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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	[tCw_to_G+tCw_to_T]_per_mut	tCw_to_G+tCw_to_T	BH_Fisher_p-value_tCw	APOBEC_enrich	tCw_to_G_enrich	tCw_to_T_enrich	p-value_GvT_skew	BH_p-value_GvT_skew	APOBEC_MutLoad_MinEstimate	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
CAMTA1	23261	genome.wustl.edu	37	chr1	7724942	7724942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agttctccgacctgatcaacGacttcatctccgtggagggg	11	12	4	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:7724942G>A	ENST00000303635.7	+	9	2542	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D779N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D779N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTGATCAACGACTTCATCTC	0.647			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	cervix(1)											164	186	178					1																	7724942		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2335G>A	1.37:g.7724942G>A	ENSP00000306522:p.Asp779Asn		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.D779N	ENST00000303635.7	37	c.2335	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.248917	0.80024	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.45276	0.91;0.9	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.56595	-0.7953	10	0.34782	T	0.22	-24.3293	18.7931	0.91982	0.0:0.0:1.0:0.0	.	779	Q9Y6Y1	CMTA1_HUMAN	N	779	ENSP00000306522:D779N;ENSP00000402561:D779N	ENSP00000306522:D779N	D	+	1	0	CAMTA1	7647529	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.733000	0.98818	2.453000	0.82957	0.549000	0.68633	GAC	CAMTA1	-	NULL		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724942	1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7724942	G	A	7724942	3	1	1	1	0	0	0	0	1	0	0	0	2618	1058	37	1	2369	1	CAMTA1	1	7724942	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		7724942	241525679	1	1										
CSMD2	114784	genome.wustl.edu	37	chr1	34180259	34180259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cgtgatgcgggcggtgccctCcagacggtacccggggaagc	17	13	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:34180259C>G	ENST00000373381.4	-	21	3510	c.3334G>C	c.(3334-3336)Gag>Cag	p.E1112Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1072	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1072Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGGTGCCCTCCAGACGGTAC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											94	105	101					1																	34180259		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3334G>C	1.37:g.34180259C>G	ENSP00000362479:p.Glu1112Gln		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E1112Q	ENST00000373381.4	37	c.3334		1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882662	0.91740	.	.	ENSG00000121904	ENST00000373381	T	0.63255	-0.03	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	N	0.21282	0.65	0.80722	D	1	D;P	0.59767	0.986;0.854	D;D	0.75020	0.935;0.985	T	0.66945	-0.5795	10	0.35671	T	0.21	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1072;1112	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	1112	ENSP00000362479:E1112Q	ENSP00000241312:E1072Q	E	-	1	0	CSMD2	33952846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		C	NM_052896		34180259	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34180259	C	G	34180259	3	3	1	1	0	0	0	0	1	0	0	0	3950	864	30	1	7445	1	CSMD2	1	34180259	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	26455317	34180259	215070362	2	2										
BSND	7809	genome.wustl.edu	37	chr1	55464880	55464880	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	atggctgacgagaagaccttCcggatcggcttcattgtgct	12	10	1	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:55464880C>T	ENST00000371265.4	+	1	275	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	7					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.F7F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGAAGACCTTCCGGATCGGCT	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)												1	Substitution - coding silent(1)	cervix(1)											100	97	98					1																	55464880		2203	4300	6503	SO:0001819	synonymous_variant	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.21C>T	1.37:g.55464880C>T			Q6NT28	Silent	SNP	NULL	p.F7	ENST00000371265.4	37	c.21	CCDS602.1	1																																																																																			BSND	-	NULL		0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	C	NM_057176		55464880	1	no_errors	ENST00000371265	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55464880	C	T	55464880	2	4	1	1	0	0	0	0	0	0	0	1	1534	854	30	1		1	BSND	1	55464880	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	21284621	55464880	193785741	3	3										
TUFT1	7286	genome.wustl.edu	37	chr1	151534633	151534633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gagatgaacttgaacacataGcccagaaggtactgcggaat	11	8	0	4	rs139065608	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:151534633G>A	ENST00000368849.3	+	2	189	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000538902.1_Missense_Mutation_p.A62T|TUFT1_ENST00000392712.3_Intron|TUFT1_ENST00000368848.2_Intron|RP11-74C1.4_ENST00000434112.1_RNA	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	43					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)	p.A43T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAACACATAGCCCAGAAGGT	0.547																																																	1	Substitution - Missense(1)	cervix(1)											166	141	149					1																	151534633		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.127G>A	1.37:g.151534633G>A	ENSP00000357842:p.Ala43Thr		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.A62T	ENST00000368849.3	37	c.184	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297038	0.60086	.	.	ENSG00000143367	ENST00000368849;ENST00000538902	T;T	0.18016	2.28;2.24	4.58	3.6	0.41247	.	0.784752	0.11492	N	0.558669	T	0.14399	0.0348	M	0.68317	2.08	0.25661	N	0.986006	D;P	0.56521	0.976;0.867	P;P	0.54140	0.743;0.542	T	0.10268	-1.0637	10	0.15066	T	0.55	-13.2888	9.4446	0.38690	0.0:0.0:0.7887:0.2113	.	62;43	F5H607;Q9NNX1	.;TUFT1_HUMAN	T	43;62	ENSP00000357842:A43T;ENSP00000437997:A62T	ENSP00000357842:A43T	A	+	1	0	TUFT1	149801257	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.919000	0.48836	2.549000	0.85964	0.563000	0.77884	GCC	TUFT1	-	NULL		0.547	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151534633	1	no_errors	ENST00000538902	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151534633	G	A	151534633	3	1	1	1	0	0	0	0	1	0	0	0	16803	971	34	4	133	4	TUFT1	1	151534633	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	96069753	151534633	97715988	4	4										
ADORA1	134	genome.wustl.edu	37	chr1	203134455	203134455	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggctgctggatcctctccttCgtggtgggactgacccctat	12	13	1	1	rs372315504		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:203134455C>T	ENST00000367236.4	+	3	1329	c.408C>T	c.(406-408)ttC>ttT	p.F136F	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.F136F|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.F136F	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	136					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.F136F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TCCTCTCCTTCGTGGTGGGAC	0.652																																																	1	Substitution - coding silent(1)	cervix(1)						C	,	0,4406		0,0,2203	67	70	69		408,408	-3.4	0.4	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADORA1	NM_000674.2,NM_001048230.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	136/327,136/327	203134455	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	134			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.408C>T	1.37:g.203134455C>T			A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.F136	ENST00000367236.4	37	c.408	CCDS1434.1	1																																																																																			ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.652	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	C	NM_000674		203134455	1	no_errors	ENST00000309502	ensembl	human	known	70_37	silent	SNP	0.966	T	T	203134455	C	T	203134455	2	4	1	1	0	0	0	0	0	0	0	1	326	883	31	1		1	ADORA1	1	203134455	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	51599822	203134455	46116166	5	5										
MTR	4548	genome.wustl.edu	37	chr1	236973894	236973894	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aggccggattataggaacatCagtgagtatttaccacatat	9	7	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr1:236973894C>T	ENST00000366577.5	+	5	895	c.501C>T	c.(499-501)atC>atT	p.I167I	MTR_ENST00000418145.2_Splice_Site_p.I223I|MTR_ENST00000535889.1_Splice_Site_p.I167I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	167	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				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.I167I(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)	ATAGGAACATCAGTGAGTAtt	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											109	112	111					1																	236973894		2203	4300	6503	SO:0001630	splice_region_variant	4548			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.502+1C>T	1.37:g.236973894C>T			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	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.I167	ENST00000366577.5	37	c.501	CCDS1614.1	1																																																																																			MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH		0.428	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	C	NM_000254	Silent	236973894	1	no_errors	ENST00000366577	ensembl	human	known	70_37	silent	SNP	1.000	T	T	236973894	C	T	236973894	5	4	1	1	0	0	0	0	0	0	1	0	9981	840	29	1	519	1	MTR	1	236973894	Splice_Site	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	33839439	236973894	12276727	6	6										
SNTG2	54221	genome.wustl.edu	37	chr2	1271197	1271197	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	atctgggtcttcaagattttGactttgaggaccagaggccc	11	9	3	4			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:1271197G>C	ENST00000308624.5	+	14	1267	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	SNTG2_ENST00000407292.1_Missense_Mutation_p.D253H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	380	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.D380H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCAAGATTTTGACTTTGAGGA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											65	61	63					2																	1271197		1925	4133	6058	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1138G>C	2.37:g.1271197G>C	ENSP00000311837:p.Asp380His		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D380H	ENST00000308624.5	37	c.1138	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901245	0.33535	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.70282	1.33;-0.47	4.46	3.57	0.40892	Pleckstrin homology domain (1);	0.173210	0.49916	D	0.000124	T	0.74816	0.3766	L	0.46157	1.445	0.09310	N	1	D;D	0.57571	0.98;0.966	P;P	0.58873	0.847;0.62	T	0.66622	-0.5877	10	0.48119	T	0.1	.	12.3903	0.55355	0.085:0.0:0.915:0.0	.	253;380	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	H	380;253	ENSP00000311837:D380H;ENSP00000385020:D253H	ENSP00000311837:D380H	D	+	1	0	SNTG2	1253778	0.997000	0.39634	0.005000	0.12908	0.502000	0.33828	3.803000	0.55560	0.821000	0.34540	0.655000	0.94253	GAC	SNTG2	-	NULL		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1271197	1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.029	C	C	1271197	G	C	1271197	3	2	1	1	0	0	0	0	1	0	0	0	14905	1290	45	1	1192	1	SNTG2	2	1271197	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		1271197	241928176	7	7										
MFSD2B	388931	genome.wustl.edu	37	chr2	24247079	24247079	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cttgctgggctctgcatcctCatggtcggctccactccaaa	9	15	2	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:24247079C>A	ENST00000406420.3	+	13	1444	c.1428C>A	c.(1426-1428)ctC>ctA	p.L476L	MFSD2B_ENST00000338315.4_Silent_p.L476L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	476					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L476L(2)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGCATCCTCATGGTCGGCT	0.652																																																	2	Substitution - coding silent(2)	cervix(2)											50	57	55					2																	24247079		2092	4217	6309	SO:0001819	synonymous_variant	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1428C>A	2.37:g.24247079C>A			B5MC32	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.L476	ENST00000406420.3	37	c.1428	CCDS46228.1	2																																																																																			MFSD2B	-	superfamily_MFS_dom_general_subst_transpt		0.652	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	C	NM_001080473		24247079	1	no_errors	ENST00000338315	ensembl	human	known	70_37	silent	SNP	0.053	A	A	24247079	C	A	24247079	2	1	1	1	0	0	0	0	0	0	0	1	9554	813	29	3		3	MFSD2B	2	24247079	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	22975882	24247079	218952294	8	8										
XIRP2	129446	genome.wustl.edu	37	chr2	168107674	168107674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ccttcagagaatctgtggacGctcaagaggaaatcaggaaa	11	8	4	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:168107674G>A	ENST00000409195.1	+	9	9861	c.9772G>A	c.(9772-9774)Gct>Act	p.A3258T	XIRP2_ENST00000409273.1_Missense_Mutation_p.A3036T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3258T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3083					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A3258T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTGTGGACGCTCAAGAGGA	0.408																																																	1	Substitution - Missense(1)	cervix(1)											63	59	61					2																	168107674		1893	4123	6016	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9772G>A	2.37:g.168107674G>A	ENSP00000386840:p.Ala3258Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.A3258T	ENST00000409195.1	37	c.9772	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	6.434	0.448138	0.12223	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02763	4.17;4.17;4.17	5.61	3.81	0.43845	.	0.187106	0.49305	N	0.000157	T	0.05090	0.0136	M	0.71581	2.175	0.34451	D	0.700649	P;P;P	0.51351	0.907;0.944;0.933	B;B;B	0.42087	0.161;0.305;0.375	T	0.44267	-0.9339	10	0.29301	T	0.29	-8.4436	11.5346	0.50631	0.1486:0.0:0.8514:0.0	.	3083;3083;3036	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3258;3258;3036;672	ENSP00000386840:A3258T;ENSP00000295237:A3258T;ENSP00000387255:A3036T	ENSP00000295237:A3258T	A	+	1	0	XIRP2	167815920	0.982000	0.34865	0.985000	0.45067	0.109000	0.19521	1.852000	0.39348	0.840000	0.34995	0.460000	0.39030	GCT	XIRP2	-	NULL		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168107674	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.999	A	A	168107674	G	A	168107674	3	1	1	1	0	0	0	0	1	0	0	0	17461	1087	38	2	9802	2	XIRP2	2	168107674	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	143860595	168107674	75091699	9	9										
TTN	7273	genome.wustl.edu	37	chr2	179462709	179462709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cagcaatgttgactgctctaActctaaatttgtagaatgct	7	8	2	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:179462709A>G	ENST00000591111.1	-	243	52489	c.52265T>C	c.(52264-52266)gTt>gCt	p.V17422A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10190A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19063A|TTN_ENST00000342992.6_Missense_Mutation_p.V16495A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10123A|TTN_ENST00000460472.2_Missense_Mutation_p.V9998A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17422	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V10123A(1)|p.V9998A(1)|p.V16495A(1)|p.V10190A(1)|p.V16493A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGCTCTAACTCTAAATTT	0.398																																																	5	Substitution - Missense(5)	cervix(5)											202	202	202					2																	179462709		1876	4120	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52265T>C	2.37:g.179462709A>G	ENSP00000465570:p.Val17422Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V16495A	ENST00000591111.1	37	c.49484		2	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317370	0.60524	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88786	0.6531	M	0.90019	3.08	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	D	0.90902	0.4769	9	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	9998;10123;10190;17422	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	16495;9998;10190;10123;9996	ENSP00000343764:V16495A;ENSP00000434586:V9998A;ENSP00000340554:V10190A;ENSP00000352154:V10123A	ENSP00000340554:V10190A	V	-	2	0	TTN	179170954	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.216000	0.95154	2.371000	0.80710	0.533000	0.62120	GTT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179462709	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179462709	A	G	179462709	3	3	1	1	0	0	0	0	1	0	0	0	16766	43	2	5	50785	5	TTN	2	179462709	Missense_Mutation	SNP	A	TCGA-BI-A0VR-01A-11D-A10S-08	11355035	179462709	63736664	10	10										
COL3A1	1281	genome.wustl.edu	37	chr2	189873889	189873890	+	Frame_Shift_Ins	INS	-	-	A													0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ttagtcctgatggttctcgtINSaaaaaccccgctagaaactg							TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:189873889_189873890insA	ENST00000304636.3	+	48	3935_3936	c.3765_3766insA	c.(3766-3768)aaafs	p.K1256fs	COL3A1_ENST00000317840.5_Frame_Shift_Ins_p.K953fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1256	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATGGTTCTCGTAAAAACCCCGC	0.401																																																	0																																										SO:0001589	frameshift_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3770dupA	2.37:g.189873894_189873894dupA	ENSP00000304408:p.Lys1256fs		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.N1256fs	ENST00000304636.3	37	c.3765_3766	CCDS2297.1	2																																																																																			COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.401	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	NM_000090		189873890	1	no_errors	ENST00000304636	ensembl	human	known	70_37	frame_shift_ins	INS	0.991:1.000	A	A	189873890	-	A	189873889	7	5	1	1	0	1	1	0	0	0	0	0	3693	1625	57	0	3955	0	COL3A1	2	189873889	Frame_Shift_Ins	INS	-	TCGA-BI-A0VR-01A-11D-A10S-08	10411180	189873889	53325484	11	11										
SLC39A10	57181	genome.wustl.edu	37	chr2	196573389	196573389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cttattaatagtctcagggtGgacatgatcacagtcaccaa	8	9	3	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:196573389G>A	ENST00000409086.3	+	5	1671	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G466R|SLC39A10_ENST00000541054.1_Missense_Mutation_p.G16R	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	466	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G466R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTCTCAGGGTGGACATGATCA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											90	84	86					2																	196573389		2203	4300	6503	SO:0001583	missense	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1396G>A	2.37:g.196573389G>A	ENSP00000386766:p.Gly466Arg		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	pfam_ZIP	p.G466R	ENST00000409086.3	37	c.1396	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376696	0.61735	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.49720	0.77;0.77;0.77	5.17	5.17	0.71159	.	0.361543	0.32301	N	0.006298	T	0.58495	0.2126	M	0.69523	2.12	0.37757	D	0.926193	P	0.45634	0.863	P	0.49637	0.617	T	0.58042	-0.7706	10	0.22109	T	0.4	.	18.8496	0.92222	0.0:0.0:1.0:0.0	.	466	Q9ULF5	S39AA_HUMAN	R	466;466;16	ENSP00000386766:G466R;ENSP00000352655:G466R;ENSP00000437787:G16R	ENSP00000352655:G466R	G	+	1	0	SLC39A10	196281634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.823000	0.62694	2.687000	0.91594	0.650000	0.86243	GGA	SLC39A10	-	pfam_ZIP		0.303	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	G	XM_047707		196573389	1	no_errors	ENST00000359634	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196573389	G	A	196573389	3	1	1	1	0	0	0	0	1	0	0	0	14643	1349	47	4	1410	4	SLC39A10	2	196573389	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	6699500	196573389	46625984	12	12										
HECW2	57520	genome.wustl.edu	37	chr2	197085612	197085612	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tcgatgtactccttcttgttCttctctgtaactgggatatt	7	9	3	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr2:197085612C>T	ENST00000260983.3	-	25	4382	c.4200G>A	c.(4198-4200)aaG>aaA	p.K1400K	HECW2_ENST00000409111.1_Silent_p.K1044K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1400	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K1400K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTTCTTGTTCTTCTCTGTAA	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											263	223	237					2																	197085612		2203	4300	6503	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4200G>A	2.37:g.197085612C>T			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.K1400	ENST00000260983.3	37	c.4200	CCDS33354.1	2																																																																																			HECW2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	C	NM_020760		197085612	-1	no_errors	ENST00000260983	ensembl	human	known	70_37	silent	SNP	1.000	T	T	197085612	C	T	197085612	2	4	1	1	0	0	0	0	0	0	0	1	7063	912	32	1		1	HECW2	2	197085612	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	512223	197085612	46113761	13	13										
TDGF1	6997	genome.wustl.edu	37	chr3	46621265	46621265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aacctgctgcctgaatggggGaacctgcatgctggggtcct	14	11	0	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:46621265G>A	ENST00000296145.5	+	4	993	c.260G>A	c.(259-261)gGa>gAa	p.G87E	TDGF1_ENST00000542931.1_Missense_Mutation_p.G71E|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	87	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.G87E(1)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGAATGGGGGAACCTGCATG	0.532																																																	1	Substitution - Missense(1)	cervix(1)											109	112	111					3																	46621265		2203	4300	6503	SO:0001583	missense	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.260G>A	3.37:g.46621265G>A	ENSP00000296145:p.Gly87Glu		Q8TCC1	Missense_Mutation	SNP	pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom	p.G87E	ENST00000296145.5	37	c.260	CCDS2742.1	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852513	0.91355	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	D;D	0.84370	-1.84;-1.8	4.62	4.62	0.57501	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	H	0.97315	3.98	0.58432	D	0.999999	D	0.76494	0.999	D	0.71870	0.975	D	0.95756	0.8796	10	0.87932	D	0	.	13.1751	0.59621	0.0:0.0:1.0:0.0	.	87	P13385	TDGF1_HUMAN	E	71;87	ENSP00000446375:G71E;ENSP00000296145:G87E	ENSP00000296145:G87E	G	+	2	0	AC104304.1	46596269	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	7.396000	0.79891	2.579000	0.87056	0.655000	0.94253	GGA	TDGF1	-	pirsf_Cripto_growth_factor,pfscan_EG-like_dom		0.532	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDGF1	HGNC	protein_coding	OTTHUMT00000257378.2	G	NM_003212		46621265	1	no_errors	ENST00000296145	ensembl	human	known	70_37	missense	SNP	0.997	A	A	46621265	G	A	46621265	3	1	1	1	0	0	0	0	1	0	0	0	15756	1174	41	1	274	1	TDGF1	3	46621265	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		46621265	151401165	14	14										
CACNA2D2	9254	genome.wustl.edu	37	chr3	50404872	50404872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aaccgtggttatccaggctgCggcggtagaagctggcattg	15	9	0	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:50404872C>T	ENST00000479441.1	-	28	2374	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R716H|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R785H|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R792H|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R785H|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R785H|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R785H|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R792H|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	792					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R785H(2)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCCAGGCTGCGGCGGTAGAA	0.612																																																	2	Substitution - Missense(2)	cervix(1)|prostate(1)											72	66	68					3																	50404872		2203	4300	6503	SO:0001583	missense	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2375G>A	3.37:g.50404872C>T	ENSP00000418081:p.Arg792His		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R792H	ENST00000479441.1	37	c.2375	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.080622	0.94050	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.88024	0.6326	M	0.74881	2.28	0.52099	D	0.999941	D;D	0.89917	0.995;1.0	P;D	0.85130	0.774;0.997	D	0.88958	0.3391	10	0.87932	D	0	-15.5905	17.3234	0.87241	0.0:1.0:0.0:0.0	.	792;785	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	H	792;785;785;716;792;785;785;792	ENSP00000407393:R792H;ENSP00000404631:R785H;ENSP00000266039:R785H;ENSP00000354228:R716H;ENSP00000390526:R792H;ENSP00000378519:R785H;ENSP00000390329:R785H;ENSP00000418081:R792H	ENSP00000266039:R785H	R	-	2	0	CACNA2D2	50379876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	2.640000	0.89533	0.655000	0.94253	CGC	CACNA2D2	-	NULL		0.612	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	C	NM_006030		50404872	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50404872	C	T	50404872	3	4	1	1	0	0	0	0	1	0	0	0	2554	768	27	2	1131	2	CACNA2D2	3	50404872	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	3783607	50404872	147617558	15	15										
C3orf63	23272	genome.wustl.edu	37	chr3	56667588	56667588	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ttctcatgcaaaccatctacAaactcctgcacaccagcttt	3	15	2	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:56667588A>G	ENST00000493960.2	-	18	3241	c.3231T>C	c.(3229-3231)ttT>ttC	p.F1077F	FAM208A_ENST00000355628.5_Silent_p.F1016F|FAM208A_ENST00000431842.2_Silent_p.F640F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1077							poly(A) RNA binding (GO:0044822)	p.F1016F(1)|p.F640F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AACCATCTACAAACTCCTGCA	0.408																																																	2	Substitution - coding silent(2)	cervix(2)											88	95	93					3																	56667588		2203	4300	6503	SO:0001819	synonymous_variant	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3231T>C	3.37:g.56667588A>G			A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	pfam_DUF3715	p.F1016	ENST00000493960.2	37	c.3048	CCDS46853.1	3																																																																																			FAM208A	-	NULL		0.408	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	A	NM_015224		56667588	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56667588	A	G	56667588	2	3	1	1	0	0	0	0	0	0	0	1	2244	127	5	5		5	C3orf63	3	56667588	Silent	SNP	A	TCGA-BI-A0VR-01A-11D-A10S-08	6262716	56667588	141354842	16	16										
LRIG1	26018	genome.wustl.edu	37	chr3	66455646	66455646	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tgctgaggctgtcgagccctGagaaggcgccgctcgtgtcc	15	13	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:66455646G>A	ENST00000273261.3	-	9	1660	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	LRIG1_ENST00000383703.3_Missense_Mutation_p.S379L|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	379					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.S379L(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTCGAGCCCTGAGAAGGCGCC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											94	81	85					3																	66455646		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1136C>T	3.37:g.66455646G>A	ENSP00000273261:p.Ser379Leu		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S379L	ENST00000273261.3	37	c.1136	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	8.308	0.821504	0.16678	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.25085	1.82;1.82	5.46	1.5	0.22942	.	0.789779	0.12379	N	0.474084	T	0.18383	0.0441	L	0.35793	1.09	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.15870	0.008;0.014;0.002	T	0.30504	-0.9976	10	0.22706	T	0.39	.	8.5529	0.33462	0.3809:0.0:0.6191:0.0	.	379;403;379	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	L	379;379;306	ENSP00000273261:S379L;ENSP00000373208:S379L	ENSP00000273261:S379L	S	-	2	0	LRIG1	66538336	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	0.882000	0.28186	-0.010000	0.14271	0.655000	0.94253	TCA	LRIG1	-	smart_Leu-rich_rpt_typical-subtyp		0.627	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	G	NM_015541		66455646	-1	no_errors	ENST00000273261	ensembl	human	known	70_37	missense	SNP	0.057	A	A	66455646	G	A	66455646	3	1	1	1	0	0	0	0	1	0	0	0	8967	1294	45	1	2189	1	LRIG1	3	66455646	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	9788058	66455646	131566784	17	17										
DZIP1L	199221	genome.wustl.edu	37	chr3	137800604	137800604	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ttcctgagagacaaggactgGatctgcaaagaggtggaata	13	6	1	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr3:137800604G>A	ENST00000327532.2	-	9	1568	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.I402I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	402					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.I402I(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACAAGGACTGGATCTGCAAAG	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											156	118	131					3																	137800604		2203	4300	6503	SO:0001819	synonymous_variant	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1206C>T	3.37:g.137800604G>A			C9JUG5|Q96M38	Silent	SNP	pfscan_Znf_C2H2	p.I402	ENST00000327532.2	37	c.1206	CCDS3096.1	3																																																																																			DZIP1L	-	NULL		0.502	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	G	NM_173543		137800604	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	silent	SNP	0.952	A	A	137800604	G	A	137800604	2	1	1	1	0	0	0	0	0	0	0	1	4874	1164	41	1		1	DZIP1L	3	137800604	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	71344958	137800604	60221826	18	18										
GABRA2	2555	genome.wustl.edu	37	chr4	46252457	46252457	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ctaacactgttgaaagttttCtttgcttcagctggcttgtt	8	8	2	1	rs145736784		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr4:46252457C>A	ENST00000510861.1	-	10	1397	c.1224G>T	c.(1222-1224)aaG>aaT	p.K408N	GABRA2_ENST00000507069.1_Missense_Mutation_p.K468N|GABRA2_ENST00000381620.4_Missense_Mutation_p.K408N|GABRA2_ENST00000356504.1_Missense_Mutation_p.K408N|GABRA2_ENST00000514090.1_Missense_Mutation_p.K408N|GABRA2_ENST00000540012.1_Missense_Mutation_p.K413N			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	408					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K408N(2)|p.K408K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAAAGTTTTCTTTGCTTCAG	0.398																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	cervix(1)|breast(1)|skin(1)											202	205	204					4																	46252457		2203	4299	6502	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1224G>T	4.37:g.46252457C>A	ENSP00000421828:p.Lys408Asn		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K413N	ENST00000510861.1	37	c.1239	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675519	0.67928	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.96	5.12	0.69794	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	L	0.35288	1.05	0.58432	D	0.99999	D;D	0.69078	0.985;0.997	P;D	0.63793	0.836;0.918	D	0.90000	0.4114	10	0.66056	D	0.02	.	14.3785	0.66895	0.0:0.9294:0.0:0.0706	.	413;408	B7Z1H8;P47869	.;GBRA2_HUMAN	N	408;408;408;408;413;468	ENSP00000421828:K408N;ENSP00000421300:K408N;ENSP00000371033:K408N;ENSP00000348897:K408N;ENSP00000444409:K413N;ENSP00000427603:K468N	ENSP00000348897:K408N	K	-	3	2	GABRA2	45947214	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.088000	0.71371	1.526000	0.49068	0.655000	0.94253	AAG	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel		0.398	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	C			46252457	-1	no_errors	ENST00000540012	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46252457	C	A	46252457	3	1	1	1	0	0	0	0	1	0	0	0	6179	912	32	3	135	3	GABRA2	4	46252457	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		46252457	144901819	19	19										
GPM6A	2823	genome.wustl.edu	37	chr4	176561306	176561306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aatgactgctgccccagctcCagcaagtgccacaataaaca	7	14	0	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr4:176561306C>T	ENST00000280187.7	-	7	703	c.658G>A	c.(658-660)Gga>Aga	p.G220R	GPM6A_ENST00000506894.1_Missense_Mutation_p.G209R|GPM6A_ENST00000515090.1_Missense_Mutation_p.G213R|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Missense_Mutation_p.G220R	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	220					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.G220R(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCCCCAGCTCCAGCAAGTGCC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											116	114	114					4																	176561306		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.658G>A	4.37:g.176561306C>T	ENSP00000280187:p.Gly220Arg		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.G220R	ENST00000280187.7	37	c.658	CCDS3824.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336616	0.81801	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397	D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53	5.82	5.82	0.92795	Myelin proteolipid protein PLP, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.79805	2.47	0.80722	D	1	D;D;P	0.54964	0.969;0.969;0.946	P;P;P	0.60609	0.877;0.877;0.877	D	0.98225	1.0480	10	0.87932	D	0	-8.4826	20.097	0.97855	0.0:1.0:0.0:0.0	.	213;209;220	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	R	220;220;209;213;212	ENSP00000280187:G220R;ENSP00000377268:G220R;ENSP00000421578:G209R;ENSP00000423984:G213R;ENSP00000422959:G212R	ENSP00000280187:G220R	G	-	1	0	GPM6A	176798300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.247000	0.78257	2.754000	0.94517	0.650000	0.86243	GGA	GPM6A	-	pfam_Myelin_PLP		0.433	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1	C			176561306	-1	no_errors	ENST00000280187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176561306	C	T	176561306	3	4	1	1	0	0	0	0	1	0	0	0	6634	603	21	4	186	4	GPM6A	4	176561306	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	130308849	176561306	14592970	20	20										
SDHA	6389	genome.wustl.edu	37	chr5	236602	236602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggcctgtacgcctgtggggaGgccgcctgtgcctcggtaca	16	13	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:236602G>A	ENST00000264932.6	+	10	1435	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	SDHA_ENST00000510361.1_Silent_p.E392E|SDHA_ENST00000504309.1_Silent_p.E440E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	440					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E440E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGGGGAGGCCGCCTGTG	0.592									Familial Paragangliomas																																								1	Substitution - coding silent(1)	cervix(1)											60	56	58					5																	236602		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1320G>A	5.37:g.236602G>A			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.E440	ENST00000264932.6	37	c.1320	CCDS3853.1	5																																																																																			SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		236602	1	no_errors	ENST00000264932	ensembl	human	known	70_37	silent	SNP	1.000	A	A	236602	G	A	236602	2	1	1	1	0	0	0	0	0	0	0	1	13993	991	35	4		4	SDHA	5	236602	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		236602	180678658	21	21										
MARCH6	10299	genome.wustl.edu	37	chr5	10377945	10377945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gtcggtcagaaggaacacctGagaaaccgctttatcatcct	9	11	2	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:10377945G>A	ENST00000274140.5	+	2	187	c.55G>A	c.(55-57)Gag>Aag	p.E19K	MARCH6_ENST00000503788.1_Intron|MARCH6_ENST00000449913.2_Missense_Mutation_p.E19K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	19					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E19K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGGAACACCTGAGAAACCGCT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											166	144	151					5																	10377945		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.55G>A	5.37:g.10377945G>A	ENSP00000274140:p.Glu19Lys		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E19K	ENST00000274140.5	37	c.55	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131202	0.77549	.	.	ENSG00000145495	ENST00000449913;ENST00000274140	T;T	0.30981	1.51;1.51	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.053345	0.64402	D	0.000001	T	0.33411	0.0862	L	0.46741	1.465	0.80722	D	1	B;B	0.20459	0.045;0.025	B;B	0.24269	0.014;0.052	T	0.07927	-1.0747	10	0.52906	T	0.07	-22.6137	19.0512	0.93046	0.0:0.0:1.0:0.0	.	19;19	B4DT33;O60337	.;MARH6_HUMAN	K	19	ENSP00000414643:E19K;ENSP00000274140:E19K	ENSP00000274140:E19K	E	+	1	0	MARCH6	10430945	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.450000	0.97607	2.649000	0.89929	0.591000	0.81541	GAG	MARCH6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10377945	1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10377945	G	A	10377945	3	1	1	1	0	0	0	0	1	0	0	0	9328	1291	45	1	61	1	MARCH6	5	10377945	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	10141343	10377945	170537315	22	22										
GPBP1	65056	genome.wustl.edu	37	chr5	56557074	56557074	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	catgtgctcccttaactgagGatgaaatgagagaattccaa	9	8	0	4			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:56557074G>C	ENST00000506184.2	+	11	2333	c.1228G>C	c.(1228-1230)Gat>Cat	p.D410H	GPBP1_ENST00000424459.3_Missense_Mutation_p.D430H|GPBP1_ENST00000454432.2_Missense_Mutation_p.D430H|GPBP1_ENST00000538707.1_Missense_Mutation_p.D417H|GPBP1_ENST00000264779.6_Missense_Mutation_p.D417H|GPBP1_ENST00000511209.1_Missense_Mutation_p.D402H|GPBP1_ENST00000514387.2_Missense_Mutation_p.D239H			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	410					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D410H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTTAACTGAGGATGAAATGAG	0.328																																																	1	Substitution - Missense(1)	cervix(1)											145	149	148					5																	56557074		2203	4300	6503	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1228G>C	5.37:g.56557074G>C	ENSP00000421202:p.Asp410His		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.D430H	ENST00000506184.2	37	c.1288	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519962	0.85495	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.65975	2.015	0.54753	D	0.999986	D;D;D;D	0.71674	0.998;0.995;0.995;0.996	D;P;D;D	0.69479	0.919;0.884;0.947;0.964	T	0.76846	-0.2808	10	0.72032	D	0.01	-23.3588	19.5872	0.95495	0.0:0.0:1.0:0.0	.	430;417;402;410	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	H	430;239;410;430;402;417;417	ENSP00000401596:D430H;ENSP00000421709:D239H;ENSP00000421202:D410H;ENSP00000403522:D430H;ENSP00000422337:D402H;ENSP00000264779:D417H;ENSP00000440090:D417H	ENSP00000264779:D417H	D	+	1	0	GPBP1	56592831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.539000	0.82063	2.628000	0.89032	0.655000	0.94253	GAT	GPBP1	-	NULL		0.328	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	G	NM_022913		56557074	1	no_errors	ENST00000424459	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56557074	G	C	56557074	3	2	1	1	0	0	0	0	1	0	0	0	6614	1174	41	1	1287	1	GPBP1	5	56557074	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	46179129	56557074	124358186	23	23										
PCDHA12	56137	genome.wustl.edu	37	chr5	140257039	140257039	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cggtgagcccgcgctgacgtCcacggccacggtgctggtgt	16	14	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:140257039C>A	ENST00000398631.2	+	1	1982	c.1982C>A	c.(1981-1983)tCc>tAc	p.S661Y	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S661Y(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGACGTCCACGGCCACG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - Missense(1)	cervix(1)											69	72	71					5																	140257039		2203	4299	6502	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1982C>A	5.37:g.140257039C>A	ENSP00000381628:p.Ser661Tyr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S661Y	ENST00000398631.2	37	c.1982	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136662	0.37728	.	.	ENSG00000251664	ENST00000398631	T	0.55588	0.51	4.81	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69468	0.3114	M	0.92169	3.28	0.28254	N	0.925139	P;P	0.47484	0.46;0.896	B;P	0.47891	0.269;0.56	T	0.69558	-0.5113	9	0.87932	D	0	.	14.06	0.64793	0.152:0.8479:0.0:0.0	.	661;661	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	Y	661	ENSP00000381628:S661Y	ENSP00000381628:S661Y	S	+	2	0	PCDHA12	140237223	0.093000	0.21703	0.179000	0.23059	0.043000	0.13939	3.372000	0.52387	0.998000	0.38996	0.561000	0.74099	TCC	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	C	NM_018903		140257039	1	no_errors	ENST00000398631	ensembl	human	known	70_37	missense	SNP	0.909	A	A	140257039	C	A	140257039	3	1	1	1	0	0	0	0	1	0	0	0	11546	855	30	3	1984	3	PCDHA12	5	140257039	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	83699965	140257039	40658221	24	24										
PCDHB6	56130	genome.wustl.edu	37	chr5	140531540	140531540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	acccgctgcagaacggctccGcgccctgcaccgagctggtg	13	17	0	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:140531540G>A	ENST00000231136.1	+	1	1702	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A432T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	568	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACGGCTCCGCGCCCTGCAC	0.716																																																	0													15	20	18					5																	140531540		2140	4250	6390	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1702G>A	5.37:g.140531540G>A	ENSP00000231136:p.Ala568Thr		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A568T	ENST00000231136.1	37	c.1702	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466307	0.43839	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.60797	0.16;0.16	4.19	3.23	0.37069	Cadherin-like (1);	.	.	.	.	T	0.52008	0.1708	N	0.16708	0.43	0.21740	N	0.99957	D	0.67145	0.996	P	0.53035	0.716	T	0.45279	-0.9272	9	0.87932	D	0	.	11.5683	0.50818	0.0:0.0:0.7314:0.2686	.	568	Q9Y5E3	PCDB6_HUMAN	T	432;568	ENSP00000438466:A432T;ENSP00000231136:A568T	ENSP00000231136:A568T	A	+	1	0	PCDHB6	140511724	0.000000	0.05858	0.992000	0.48379	0.951000	0.60555	-0.877000	0.04197	2.047000	0.60756	0.556000	0.70494	GCG	PCDHB6	-	superfamily_Cadherin-like		0.716	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	G	NM_018939		140531540	1	no_errors	ENST00000231136	ensembl	human	known	70_37	missense	SNP	0.456	A	A	140531540	G	A	140531540	3	1	1	1	0	0	0	0	1	0	0	0	11570	1087	38	2	1704	2	PCDHB6	5	140531540	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	274501	140531540	40383720	25	25										
LARS	51520	genome.wustl.edu	37	chr5	145531511	145531511	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gctctgaattttcaactcatCacaaatggttacagcagaaa	6	9	4	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:145531511C>T	ENST00000394434.2	-	14	1505	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	LARS_ENST00000274562.9_Missense_Mutation_p.D420N|LARS_ENST00000510191.1_Missense_Mutation_p.D393N|LARS_ENST00000545646.1_Missense_Mutation_p.D401N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	447	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.D447N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCAACTCATCACAAATGGTT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											165	178	174					5																	145531511		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1339G>A	5.37:g.145531511C>T	ENSP00000377954:p.Asp447Asn		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.D447N	ENST00000394434.2	37	c.1339	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309303	0.60414	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.63417	-0.03;-0.04;-0.04;-0.04	4.96	4.96	0.65561	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	N	0.25992	0.78	0.80722	D	1	B;D;B	0.62365	0.018;0.991;0.01	B;D;B	0.70227	0.016;0.968;0.005	T	0.69150	-0.5221	10	0.39692	T	0.17	-8.985	18.6028	0.91255	0.0:1.0:0.0:0.0	.	420;401;447	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	447;401;393;420	ENSP00000377954:D447N;ENSP00000437791:D401N;ENSP00000426005:D393N;ENSP00000274562:D420N	ENSP00000274562:D420N	D	-	1	0	LARS	145511704	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.917000	0.69989	2.467000	0.83353	0.563000	0.77884	GAT	LARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk		0.398	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	C	NM_020117		145531511	-1	no_errors	ENST00000394434	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145531511	C	T	145531511	3	4	1	1	0	0	0	0	1	0	0	0	8654	826	29	1	2267	1	LARS	5	145531511	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	4999971	145531511	35383749	26	26										
SPINK5	11005	genome.wustl.edu	37	chr5	147503405	147503405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	actgttggtaggatctgtgtCgtgaatttcgaagcatgcag	13	6	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:147503405C>T	ENST00000256084.7	+	27	2590	c.2548C>T	c.(2548-2550)Cgt>Tgt	p.R850C	SPINK5_ENST00000398454.1_Missense_Mutation_p.R850C|SPINK5_ENST00000359874.3_Missense_Mutation_p.R850C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	850	Kazal-like 13. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R850C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCTGTGTCGTGAATTTCG	0.388																																																	2	Substitution - Missense(2)	cervix(2)											88	85	86					5																	147503405		1871	4121	5992	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2548C>T	5.37:g.147503405C>T	ENSP00000256084:p.Arg850Cys		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.R850C	ENST00000256084.7	37	c.2548	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924049	0.34002	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.27	0.518	0.17030	Proteinase inhibitor I1, Kazal (1);	0.947601	0.08737	N	0.901191	T	0.12518	0.0304	L	0.29908	0.895	0.24969	N	0.991671	D;D;D;D	0.76494	0.994;0.999;0.997;0.996	P;P;P;P	0.58520	0.696;0.84;0.696;0.84	T	0.32052	-0.9921	10	0.51188	T	0.08	-1.6901	6.4683	0.21993	0.0:0.5918:0.0:0.4082	.	831;850;850;850	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	850;850;831;850	ENSP00000381472:R850C;ENSP00000352936:R850C;ENSP00000421519:R831C;ENSP00000256084:R850C	ENSP00000256084:R850C	R	+	1	0	SPINK5	147483598	0.000000	0.05858	0.702000	0.30337	0.177000	0.22998	-0.574000	0.05868	0.075000	0.16796	0.591000	0.81541	CGT	SPINK5	-	smart_Prot_inh_Kazal		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	C	NM_001127698		147503405	1	no_errors	ENST00000359874	ensembl	human	known	70_37	missense	SNP	0.772	T	T	147503405	C	T	147503405	3	4	1	1	0	0	0	0	1	0	0	0	15092	884	31	1	2654	1	SPINK5	5	147503405	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	1971894	147503405	33411855	27	27										
GABRP	2568	genome.wustl.edu	37	chr5	170236741	170236741	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cactacagttccttacagcaGatggcagccaaagatagggt	10	10	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr5:170236741G>C	ENST00000518525.1	+	10	1466	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	GABRP_ENST00000519385.1_Intron|GABRP_ENST00000519598.1_Missense_Mutation_p.Q334H|GABRP_ENST00000265294.4_Missense_Mutation_p.Q334H			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	334					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q334H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTTACAGCAGATGGCAGCCA	0.507											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											188	157	168					5																	170236741		2203	4300	6503	SO:0001583	missense	2568			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1002G>C	5.37:g.170236741G>C	ENSP00000430100:p.Gln334His	1883	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Q334H	ENST00000518525.1	37	c.1002	CCDS4375.1	5	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521964	0.27211	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.86097	-2.07;-2.07;-2.07	5.29	5.29	0.74685	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.219328	0.48767	D	0.000168	T	0.68577	0.3016	N	0.12920	0.275	0.29037	N	0.885336	B	0.02656	0.0	B	0.06405	0.002	T	0.55173	-0.8182	10	0.12103	T	0.63	.	7.0801	0.25227	0.0862:0.0:0.7412:0.1726	.	334	O00591	GBRP_HUMAN	H	334	ENSP00000430100:Q334H;ENSP00000265294:Q334H;ENSP00000430772:Q334H	ENSP00000265294:Q334H	Q	+	3	2	GABRP	170169319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.002000	0.49496	2.489000	0.83994	0.655000	0.94253	CAG	GABRP	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.507	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	HGNC	protein_coding	OTTHUMT00000252834.3	G	NM_014211		170236741	1	no_errors	ENST00000265294	ensembl	human	known	70_37	missense	SNP	0.998	C	C	170236741	G	C	170236741	3	2	1	1	0	0	0	0	1	0	0	0	6192	933	33	1	1032	1	GABRP	5	170236741	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	22733336	170236741	10678519	28	28										
EGFL8	80864	genome.wustl.edu	37	chr6	32135384	32135384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tggggccggggtgaccggatCgaatctctcagcgaccaggt	16	11	2	1	rs537573019		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:32135384C>T	ENST00000395512.1	+	8	891	c.786C>T	c.(784-786)atC>atT	p.I262I	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000489721.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.I262I|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	262						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I262I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGACCGGATCGAATCTCTCA	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											61	64	63					6																	32135384		1510	2709	4219	SO:0001819	synonymous_variant	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.786C>T	6.37:g.32135384C>T			B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain	p.I262	ENST00000395512.1	37	c.786	CCDS4743.1	6																																																																																			EGFL8	-	NULL		0.647	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	HGNC	protein_coding	OTTHUMT00000076463.3	C	NM_030652		32135384	1	no_errors	ENST00000333845	ensembl	human	known	70_37	silent	SNP	0.998	T	T	32135384	C	T	32135384	2	4	1	1	0	0	0	0	0	0	0	1	4975	874	31	1		1	EGFL8	6	32135384	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		32135384	138979683	29	29										
PKHD1	5314	genome.wustl.edu	37	chr6	51483976	51483976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tctcttgggaaagccccaagCtgccactttgcttactcagc	8	14	2	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:51483976C>T	ENST00000371117.3	-	67	12403	c.12128G>A	c.(12127-12129)aGc>aAc	p.S4043N	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4043					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S4043N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCCCCAAGCTGCCACTTTG	0.547																																																	1	Substitution - Missense(1)	cervix(1)											45	46	46					6																	51483976		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.12128G>A	6.37:g.51483976C>T	ENSP00000360158:p.Ser4043Asn		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S4043N	ENST00000371117.3	37	c.12128	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	2.498	-0.315847	0.05422	.	.	ENSG00000170927	ENST00000371117	D	0.86030	-2.06	5.27	0.912	0.19349	.	0.877880	0.09933	N	0.737024	T	0.36220	0.0959	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45585	-0.9251	10	0.02654	T	1	.	6.4198	0.21738	0.0:0.5384:0.0:0.4616	.	4043	P08F94	PKHD1_HUMAN	N	4043	ENSP00000360158:S4043N	ENSP00000360158:S4043N	S	-	2	0	PKHD1	51591935	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.202000	0.09451	0.325000	0.23359	-0.137000	0.14449	AGC	PKHD1	-	NULL		0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51483976	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.000	T	T	51483976	C	T	51483976	3	4	1	1	0	0	0	0	1	0	0	0	11995	797	28	4	100	4	PKHD1	6	51483976	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	19348592	51483976	119631091	30	30										
TINAG	27283	genome.wustl.edu	37	chr6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tagaagatggttttaaatttCgccttggcactttgccacct	8	9	0	2	rs115438249	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																																	1	Substitution - Missense(1)	cervix(1)						C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139	126	131		571	5.8	1	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.R191C	ENST00000259782.4	37	c.571	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC	TINAG	-	NULL		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	C	NM_014464		54191661	1	no_errors	ENST00000259782	ensembl	human	known	70_37	missense	SNP	0.987	T	T	54191661	C	T	54191661	3	4	1	1	0	0	0	0	1	0	0	0	15951	884	31	1	585	1	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	2707685	54191661	116923406	31	31										
UBE2CBP	90025	genome.wustl.edu	37	chr6	83732175	83732175	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ataaaataatttcttaccaaGatatacactttgtcatcctg	3	8	2	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:83732175G>C	ENST00000369747.3	-	7	965	c.843C>G	c.(841-843)atC>atG	p.I281M		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	281					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.I281M(1)									TTCTTACCAAGATATACACTT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											51	52	52					6																	83732175		2203	4300	6503	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.843C>G	6.37:g.83732175G>C	ENSP00000358762:p.Ile281Met		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.I281M	ENST00000369747.3	37	c.843	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955744	0.18507	.	.	ENSG00000118420	ENST00000369747	T	0.32753	1.44	5.35	2.53	0.30540	.	0.183883	0.47455	N	0.000238	T	0.12646	0.0307	M	0.70595	2.14	0.80722	D	1	B;P	0.35192	0.19;0.489	B;B	0.36134	0.218;0.167	T	0.09357	-1.0678	10	0.21540	T	0.41	-23.0032	3.4199	0.07389	0.1518:0.1356:0.5726:0.14	.	260;281	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	M	281	ENSP00000358762:I281M	ENSP00000358762:I281M	I	-	3	3	UBE2CBP	83788894	1.000000	0.71417	0.972000	0.41901	0.409000	0.31022	1.604000	0.36804	0.225000	0.20959	0.462000	0.41574	ATC	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot		0.413	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	G	NM_198920		83732175	-1	no_errors	ENST00000369747	ensembl	human	known	70_37	missense	SNP	1.000	C	C	83732175	G	C	83732175	3	2	1	1	0	0	0	0	1	0	0	0	16878	932	33	1	342	1	UBE2CBP	6	83732175	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	29540514	83732175	87382892	32	32										
AIM1	202	genome.wustl.edu	37	chr6	106967523	106967523	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tcaaggatcataagctcttaGagaaggaggactcagaggct	12	7	4	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:106967523G>C	ENST00000369066.3	+	2	1703	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.E406Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAAGCTCTTAGAGAAGGAGGA	0.458																																																	1	Substitution - Missense(1)	cervix(1)											79	84	82					6																	106967523		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1216G>C	6.37:g.106967523G>C	ENSP00000358062:p.Glu406Gln		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E406Q	ENST00000369066.3	37	c.1216	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572910	0.28092	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72051	-0.62	5.93	0.893	0.19236	.	1.253730	0.05815	N	0.614624	T	0.30696	0.0773	N	0.22421	0.69	0.09310	N	0.999995	B	0.25521	0.128	B	0.16722	0.016	T	0.14117	-1.0484	10	0.17369	T	0.5	.	8.983	0.35977	0.3898:0.0:0.6102:0.0	.	406	Q9Y4K1	AIM1_HUMAN	Q	814;406	ENSP00000358062:E406Q	ENSP00000285105:E814Q	E	+	1	0	AIM1	107074216	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	0.566000	0.23593	-0.123000	0.11745	-0.345000	0.07892	GAG	AIM1	-	NULL		0.458	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106967523	1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.000	C	C	106967523	G	C	106967523	3	2	1	1	0	0	0	0	1	0	0	0	430	943	33	1	1222	1	AIM1	6	106967523	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	23235348	106967523	64147544	33	33										
UTRN	7402	genome.wustl.edu	37	chr6	144875962	144875962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agaactgatgagaaaatatgAggctcgactctatattcttc	8	7	2	4			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr6:144875962A>G	ENST00000367545.3	+	48	7067	c.7067A>G	c.(7066-7068)gAg>gGg	p.E2356G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2356					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.E2356G(1)		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)		AGAAAATATGAGGCTCGACTC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											88	88	88					6																	144875962		2203	4300	6503	SO:0001583	missense	7402			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.7067A>G	6.37:g.144875962A>G	ENSP00000356515:p.Glu2356Gly		Q5SYY1|Q5SZ57|Q9UJ40	Missense_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.E2356G	ENST00000367545.3	37	c.7067	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	A	36	5.748907	0.96882	.	.	ENSG00000152818	ENST00000367545	T	0.49139	0.79	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000090	T	0.37210	0.0995	M	0.61703	1.905	0.80722	D	1	B	0.25743	0.133	B	0.30716	0.119	T	0.44772	-0.9306	10	0.72032	D	0.01	.	15.2988	0.73931	1.0:0.0:0.0:0.0	.	2356	P46939	UTRO_HUMAN	G	2356	ENSP00000356515:E2356G	ENSP00000356515:E2356G	E	+	2	0	UTRN	144917655	1.000000	0.71417	0.926000	0.36857	0.945000	0.59286	8.962000	0.93254	2.063000	0.61619	0.460000	0.39030	GAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.438	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	A			144875962	1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144875962	A	G	144875962	3	3	1	1	0	0	0	0	1	0	0	0	17134	304	11	5	7257	5	UTRN	6	144875962	Missense_Mutation	SNP	A	TCGA-BI-A0VR-01A-11D-A10S-08	37908439	144875962	26239105	34	34										
INTS1	26173	genome.wustl.edu	37	chr7	1525079	1525079	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tcctccccgtcccgcaggctGccctccgaaagcaccagcga	9	20	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:1525079G>T	ENST00000404767.3	-	23	3088	c.3003C>A	c.(3001-3003)ggC>ggA	p.G1001G	INTS1_ENST00000389470.4_Silent_p.G1163G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1001					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.G1163G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCCGCAGGCTGCCCTCCGAAA	0.667																																																	1	Substitution - coding silent(1)	cervix(1)											28	37	34					7																	1525079		2069	4202	6271	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3003C>A	7.37:g.1525079G>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.G1163	ENST00000404767.3	37	c.3489	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1525079	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.800	T	T	1525079	G	T	1525079	2	4	1	1	0	0	0	0	0	0	0	1	7795	1306	46	4		4	INTS1	7	1525079	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		1525079	157613584	35	35										
SDK1	221935	genome.wustl.edu	37	chr7	3998591	3998591	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tattttactgctgagcccgaGagtcggatttcagctgaagt	11	8	1	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:3998591G>C	ENST00000404826.2	+	8	1318	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D	SDK1_ENST00000389531.3_Missense_Mutation_p.E393D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	393	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E393D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGAGCCCGAGAGTCGGATTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											131	135	134					7																	3998591		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1179G>C	7.37:g.3998591G>C	ENSP00000385899:p.Glu393Asp		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E393D	ENST00000404826.2	37	c.1179	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573200	0.28092	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.36699	1.24;1.24	5.35	0.0852	0.14440	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251925	0.32175	N	0.006475	T	0.22975	0.0555	L	0.48218	1.51	0.09310	N	1	P	0.35872	0.525	B	0.34590	0.186	T	0.18713	-1.0328	10	0.16896	T	0.51	.	5.247	0.15502	0.2927:0.2494:0.4579:0.0	.	393	Q7Z5N4	SDK1_HUMAN	D	393	ENSP00000385899:E393D;ENSP00000374182:E393D	ENSP00000374182:E393D	E	+	3	2	SDK1	3965117	0.990000	0.36364	0.098000	0.21074	0.851000	0.48451	0.863000	0.27913	-0.195000	0.10382	-0.140000	0.14226	GAG	SDK1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.458	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	G	NM_152744		3998591	1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.041	C	C	3998591	G	C	3998591	3	2	1	1	0	0	0	0	1	0	0	0	13998	933	33	1	1209	1	SDK1	7	3998591	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	2473512	3998591	155140072	36	36										
NRCAM	4897	genome.wustl.edu	37	chr7	107848053	107848053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gcagatcaaggtcccatcctCtcctggggacagcacaagat	10	13	2	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:107848053C>T	ENST00000425651.2	-	10	1125	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	NRCAM_ENST00000351718.4_Missense_Mutation_p.E370K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E357K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E376K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E357K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E376K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	376	Ig-like 4.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.E370K(1)|p.E376K(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTCCCATCCTCTCCTGGGGAC	0.443																																																	2	Substitution - Missense(2)	cervix(2)											90	84	86					7																	107848053		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1126G>A	7.37:g.107848053C>T	ENSP00000401244:p.Glu376Lys		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E376K	ENST00000425651.2	37	c.1126	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.043315	0.97231	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;1.16	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	L	0.58354	1.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.998;0.992;0.986;0.994	D	0.88708	0.3220	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	376;357;357;370;376	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	K	376;376;357;376;370;357;376;376;370;370	ENSP00000368314:E376K;ENSP00000407858:E357K;ENSP00000325269:E370K;ENSP00000368310:E357K;ENSP00000401244:E376K;ENSP00000368308:E376K;ENSP00000390421:E370K	ENSP00000325269:E370K	E	-	1	0	NRCAM	107635289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.687000	0.84139	2.894000	0.99253	0.655000	0.94253	GAG	NRCAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107848053	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107848053	C	T	107848053	3	4	1	1	0	0	0	0	1	0	0	0	10668	922	32	1	2902	1	NRCAM	7	107848053	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	103849462	107848053	51290610	37	37										
KCND2	3751	genome.wustl.edu	37	chr7	120373014	120373014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	atttttggttctatctgttcGctgagtggggtcttggtcat	12	6	4	1	rs367909110		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:120373014G>A	ENST00000331113.4	+	2	2138	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	391					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.S391S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTATCTGTTCGCTGAGTGGGG	0.423													g|||	1	0.000199681	8e-04	0	5008	,	,		16394	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)						A		0,4406		0,0,2203	175	158	164		1173	-11.3	0.1	7		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCND2	NM_012281.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		391/631	120373014	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1173G>A	7.37:g.120373014G>A			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S391	ENST00000331113.4	37	c.1173	CCDS5776.1	7																																																																																			KCND2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.423	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	G	NM_012281		120373014	1	no_errors	ENST00000331113	ensembl	human	known	70_37	silent	SNP	0.003	A	A	120373014	G	A	120373014	2	1	1	1	0	0	0	0	0	0	0	1	8039	1074	38	2		2	KCND2	7	120373014	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	12524961	120373014	38765649	38	38										
REPIN1	29803	genome.wustl.edu	37	chr7	150069696	150069696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	atcggcgcgaccacgcccccGatcggcccttcgtgtgtccc	11	19	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:150069696G>A	ENST00000425389.2	+	1	1444	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	REPIN1_ENST00000489432.2_Missense_Mutation_p.D513N|REPIN1_ENST00000540729.1_Missense_Mutation_p.D456N|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.D456N|REPIN1_ENST00000444957.1_Missense_Mutation_p.D456N	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	456					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D456N(2)|p.D513N(2)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACGCCCCCGATCGGCCCTT	0.731																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											16	21	20					7																	150069696		2154	4246	6400	SO:0001583	missense	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1366G>A	7.37:g.150069696G>A	ENSP00000388287:p.Asp456Asn		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D513N	ENST00000425389.2	37	c.1537	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339800	0.41398	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.13415	0.0325	L	0.31420	0.93	0.80722	D	1	P;P	0.37038	0.579;0.486	B;B	0.33196	0.159;0.079	T	0.09143	-1.0688	9	0.87932	D	0	-10.6122	13.8973	0.63781	0.0:0.0:1.0:0.0	.	513;456	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	456;456;456;513;456	ENSP00000445016:D456N;ENSP00000380451:D456N;ENSP00000407714:D456N;ENSP00000417291:D513N;ENSP00000388287:D456N	ENSP00000380451:D456N	D	+	1	0	REPIN1	149700629	0.522000	0.26266	0.966000	0.40874	0.495000	0.33615	2.295000	0.43576	2.142000	0.66516	0.462000	0.41574	GAT	REPIN1	-	pfscan_Znf_C2H2		0.731	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	G	NM_014374		150069696	1	no_errors	ENST00000489432	ensembl	human	known	70_37	missense	SNP	0.994	A	A	150069696	G	A	150069696	3	1	1	1	0	0	0	0	1	0	0	0	13257	1058	37	1	1543	1	REPIN1	7	150069696	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	29696682	150069696	9068967	39	39										
ATG9B	285973	genome.wustl.edu	37	chr7	150720969	150720969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ccacacacatacctcggagcCcttcagggacatgaagcagg	10	14	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:150720969C>T	ENST00000377974.2	-	1	617	c.542G>A	c.(541-543)gGg>gAg	p.G181E	ATG9B_ENST00000605952.1_Missense_Mutation_p.G181E|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.G181E			Q674R7	ATG9B_HUMAN	autophagy related 9B	181					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.G181E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTCGGAGCCCTTCAGGGAC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											12	14	14					7																	150720969		1980	4154	6134	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.542G>A	7.37:g.150720969C>T	ENSP00000475005:p.Gly181Glu		A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000377974.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	C	6.340	0.430868	0.12045	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	4.55	3.66	0.41972	.	0.118365	0.56097	D	0.000030	T	0.44850	0.1313	.	.	.	.	.	.	D	0.62365	0.991	P	0.57620	0.824	T	0.51631	-0.8681	7	0.09843	T	0.71	-19.1654	6.2783	0.20993	0.0:0.7112:0.1887:0.1001	.	181	Q674R7	ATG9B_HUMAN	E	181	.	ENSP00000444232:G181E	G	-	2	0	AC010973.1	150351902	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	2.629000	0.46485	1.259000	0.44117	0.655000	0.94253	GGG	ATG9B	-	-		0.612	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		C	NM_173681		150720969	-1	no_errors	ENST00000377974	ensembl	human	known	70_37	rna	SNP	1.000	T	T	150720969	C	T	150720969	3	4	1	1	0	0	0	0	1	0	0	0	1104	623	22	4	2283	4	ATG9B	7	150720969	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	651273	150720969	8417694	40	40										
PTPRN2	5799	genome.wustl.edu	37	chr7	157926524	157926524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tggagctccccaaacgcagcGgccccgggctccgaatgcgg	14	16	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr7:157926524G>A	ENST00000389418.4	-	9	1410	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	PTPRN2_ENST00000389413.3_Silent_p.A467A|PTPRN2_ENST00000409483.1_Silent_p.A429A|PTPRN2_ENST00000404321.2_Silent_p.A490A|PTPRN2_ENST00000389416.4_Silent_p.A450A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	467					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A467A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAAACGCAGCGGCCCCGGGCT	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											44	50	48					7																	157926524		2203	4300	6503	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1401C>T	7.37:g.157926524G>A			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A490	ENST00000389418.4	37	c.1470	CCDS5947.1	7																																																																																			PTPRN2	-	NULL		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			157926524	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	silent	SNP	0.000	A	A	157926524	G	A	157926524	2	1	1	1	0	0	0	0	0	0	0	1	12838	1103	39	2		2	PTPRN2	7	157926524	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	7205555	157926524	1212139	41	41										
FUT10	84750	genome.wustl.edu	37	chr8	33247035	33247035	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gtctgatggtgggtcacagtCtgactgtacatacaccagcg	12	10	3	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:33247035C>T	ENST00000327671.5	-	4	1289	c.658G>A	c.(658-660)Gac>Aac	p.D220N	FUT10_ENST00000518672.1_Missense_Mutation_p.D192N|FUT10_ENST00000335589.3_Missense_Mutation_p.D158N|FUT10_ENST00000524021.1_Missense_Mutation_p.D192N|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	220					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.D220N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GGGTCACAGTCTGACTGTACA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											124	114	118					8																	33247035		2203	4300	6503	SO:0001583	missense	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.658G>A	8.37:g.33247035C>T	ENSP00000332757:p.Asp220Asn		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.D220N	ENST00000327671.5	37	c.658	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	c	16.02	3.004912	0.54254	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.19394	2.3;2.3;2.3;2.15	5.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.13235	0.315	0.58432	D	0.99999	D;B;D;B;D;B	0.89917	1.0;0.189;1.0;0.189;0.994;0.368	D;B;D;B;D;B	0.77557	0.99;0.237;0.987;0.396;0.938;0.193	T	0.05818	-1.0862	10	0.02654	T	1	-2.335	11.4967	0.50413	0.0:0.912:0.0:0.088	.	270;220;192;158;220;262	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	N	220;262;192;192;158	ENSP00000332757:D220N;ENSP00000430428:D192N;ENSP00000429870:D192N;ENSP00000334997:D158N	ENSP00000332757:D220N	D	-	1	0	FUT10	33366577	1.000000	0.71417	0.944000	0.38274	0.627000	0.37826	4.175000	0.58263	1.306000	0.44926	0.552000	0.68991	GAC	FUT10	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met		0.473	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1	C	NM_032664		33247035	-1	no_errors	ENST00000327671	ensembl	human	known	70_37	missense	SNP	0.992	T	T	33247035	C	T	33247035	3	4	1	1	0	0	0	0	1	0	0	0	6120	913	32	1	789	1	FUT10	8	33247035	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		33247035	113116987	42	42										
TSPYL5	85453	genome.wustl.edu	37	chr8	98289031	98289031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aaaccacccaaagaaactacGgttgttttctgggtttccct	7	11	1	1	rs144247525	byFrequency	TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:98289031G>A	ENST00000322128.3	-	1	1145	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	348					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.R348C(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AAGAAACTACGGTTGTTTTCT	0.498																																																	1	Substitution - Missense(1)	cervix(1)						G	CYS/ARG	0,4406		0,0,2203	114	115	115		1042	2.3	0.2	8	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TSPYL5	NM_033512.2	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	348/418	98289031	4,13002	2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1042C>T	8.37:g.98289031G>A	ENSP00000322802:p.Arg348Cys		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.R348C	ENST00000322128.3	37	c.1042	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157953	0.21454	0.0	4.65E-4	ENSG00000180543	ENST00000322128	T	0.26373	1.74	4.3	2.28	0.28536	.	0.265497	0.20106	N	0.099132	T	0.13457	0.0326	N	0.12920	0.275	0.20074	N	0.999933	B	0.23806	0.091	B	0.28232	0.087	T	0.17471	-1.0368	10	0.52906	T	0.07	-0.1916	4.1776	0.10360	0.1536:0.2483:0.5981:0.0	.	348	Q86VY4	TSYL5_HUMAN	C	348	ENSP00000322802:R348C	ENSP00000322802:R348C	R	-	1	0	TSPYL5	98358207	0.001000	0.12720	0.190000	0.23270	0.997000	0.91878	0.813000	0.27225	0.611000	0.30052	0.563000	0.77884	CGT	TSPYL5	-	pfam_NAP_family		0.498	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	G	NM_033512		98289031	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.243	A	A	98289031	G	A	98289031	3	1	1	1	0	0	0	0	1	0	0	0	16693	1116	39	2	215	2	TSPYL5	8	98289031	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	65041996	98289031	48074991	43	43										
EIF3E	3646	genome.wustl.edu	37	chr8	109252288	109252288	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agttgtgcaaccactgtggtTcttttctctctcaaagctaa	7	10	3	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:109252288T>A	ENST00000220849.5	-	3	284	c.222A>T	c.(220-222)agA>agT	p.R74S	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.R74S(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CCACTGTGGTTCTTTTCTCTC	0.373																																					GBM(15;360 410 8460 34179 52246)												1	Substitution - Missense(1)	cervix(1)											159	146	151					8																	109252288		2203	4300	6503	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.222A>T	8.37:g.109252288T>A	ENSP00000220849:p.Arg74Ser			Missense_Mutation	SNP	pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk	p.R74S	ENST00000220849.5	37	c.222	CCDS6308.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.084694|4.084694	0.76642|0.76642	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000521440|ENST00000220849;ENST00000518345	.|T	.|0.53423	.|0.62	5.54|5.54	4.38|4.38	0.52667|0.52667	.|Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;0.998;1.0	.|D;P;D	.|0.79108	.|0.966;0.891;0.992	T|T	0.74985|0.74985	-0.3477|-0.3477	5|10	.|0.87932	.|D	.|0	-14.6976|-14.6976	8.6652|8.6652	0.34116|0.34116	0.0:0.1471:0.0:0.8529|0.0:0.1471:0.0:0.8529	.|.	.|74;74;74	.|Q6IAX5;B2R806;P60228	.|.;.;EIF3E_HUMAN	V|S	73|74;25	.|ENSP00000220849:R74S	.|ENSP00000220849:R74S	E|R	-|-	2|3	0|2	EIF3E|EIF3E	109321464|109321464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.097000|2.097000	0.41748|0.41748	1.044000|1.044000	0.40200|0.40200	0.397000|0.397000	0.26171|0.26171	GAA|AGA	EIF3E	-	pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk		0.373	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380612.2	T	NM_001568		109252288	-1	no_errors	ENST00000220849	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109252288	T	A	109252288	3	1	1	1	0	0	0	0	1	0	0	0	5027	1780	62	5	1159	5	EIF3E	8	109252288	Missense_Mutation	SNP	T	TCGA-BI-A0VR-01A-11D-A10S-08	10963257	109252288	37111734	44	44										
CPSF1	29894	genome.wustl.edu	37	chr8	145620684	145620684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggtaagccacatagtgggccGtgcagcgcagcgggatcttc	15	11	1	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr8:145620684G>A	ENST00000349769.3	-	27	3156	c.3062C>T	c.(3061-3063)aCg>aTg	p.T1021M	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1021					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.T1021M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATAGTGGGCCGTGCAGCGCAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)												1	Substitution - Missense(1)	cervix(1)											50	45	47					8																	145620684		2203	4299	6502	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3062C>T	8.37:g.145620684G>A	ENSP00000339353:p.Thr1021Met		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.T1021M	ENST00000349769.3	37	c.3062	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328381	0.81690	.	.	ENSG00000071894	ENST00000349769	T	0.76968	-1.06	5.0	5.0	0.66597	.	0.174931	0.49916	D	0.000128	D	0.86785	0.6016	M	0.87758	2.905	0.80722	D	1	D	0.57899	0.981	P	0.55087	0.768	D	0.89314	0.3635	10	0.66056	D	0.02	-7.4844	15.8343	0.78787	0.0:0.0:1.0:0.0	.	1021	Q10570	CPSF1_HUMAN	M	1021	ENSP00000339353:T1021M	ENSP00000339353:T1021M	T	-	2	0	CPSF1	145591492	1.000000	0.71417	0.935000	0.37517	0.951000	0.60555	8.793000	0.91862	2.340000	0.79590	0.536000	0.68110	ACG	CPSF1	-	NULL		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145620684	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145620684	G	A	145620684	3	1	1	1	0	0	0	0	1	0	0	0	3829	1145	40	2	1317	2	CPSF1	8	145620684	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	36368396	145620684	743338	45	45										
PRUNE2	158471	genome.wustl.edu	37	chr9	79328481	79328481	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gtcagaggaggggctcacctGactgcacagctccatgtttt	12	11	2	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr9:79328481G>A	ENST00000376718.3	-	7	1036	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	305					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.Q305*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTCACCTGACTGCACAGC	0.532																																																	1	Substitution - Nonsense(1)	cervix(1)											77	76	76					9																	79328481		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.913C>T	9.37:g.79328481G>A	ENSP00000365908:p.Gln305*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.Q305*	ENST00000376718.3	37	c.913	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.331926	0.98217	.	.	ENSG00000106772	ENST00000376718;ENST00000422033	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	305;304	.	ENSP00000365908:Q305X	Q	-	1	0	PRUNE2	78518301	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.045000	0.76585	2.885000	0.99019	0.655000	0.94253	CAG	PRUNE2	-	pfam_DHHA2		0.532	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79328481	-1	no_errors	ENST00000376718	ensembl	human	novel	70_37	nonsense	SNP	1.000	A	A	79328481	G	A	79328481	4	1	1	1	0	0	0	0	0	1	0	0	12668	1299	45	1	8405	1	PRUNE2	9	79328481	Nonsense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		79328481	61884950	46	46										
KIAA0368	23392	genome.wustl.edu	37	chr9	114135509	114135509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gtttttcagtgctgctatccCgtgaggtctgaaaaagaaac	10	8	2	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr9:114135509C>T	ENST00000338205.5	-	40	4496	c.4277G>A	c.(4276-4278)cGg>cAg	p.R1426Q	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1604Q|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1432					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R1604Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCTGCTATCCCGTGAGGTCTG	0.338																																																	1	Substitution - Missense(1)	cervix(1)											162	158	159					9																	114135509		1812	4078	5890	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4277G>A	9.37:g.114135509C>T	ENSP00000339889:p.Arg1426Gln		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1604Q	ENST00000338205.5	37	c.4811		9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967213	0.74131	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.64991	-0.13	6.17	6.17	0.99709	.	0.064065	0.64402	D	0.000006	T	0.52058	0.1711	N	0.22421	0.69	0.80722	D	1	B	0.31174	0.311	B	0.26416	0.069	T	0.47509	-0.9112	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	901	B3KXF2	.	Q	1426;1604;901	ENSP00000259335:R1604Q	ENSP00000259335:R1604Q	R	-	2	0	KIAA0368	113175330	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.280000	0.65603	2.941000	0.99782	0.655000	0.94253	CGG	KIAA0368	-	superfamily_ARM-type_fold		0.338	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	C	NM_014686		114135509	-1	no_errors	ENST00000259335	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114135509	C	T	114135509	3	4	1	1	0	0	0	0	1	0	0	0	8191	652	23	2	1282	2	KIAA0368	9	114135509	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	34807028	114135509	27077922	47	47										
PBX3	5090	genome.wustl.edu	37	chr9	128728131	128728131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ctaatggaggctggcaggacGcaacaactccatcttctgtg	11	11	2	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr9:128728131G>A	ENST00000373489.5	+	9	1250	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.A433T|PBX3_ENST00000373483.2_Missense_Mutation_p.A231T|PBX3_ENST00000447726.2_Missense_Mutation_p.A337T	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	412					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A412T(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGCAGGACGCAACAACTCC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											231	208	216					9																	128728131		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1234G>A	9.37:g.128728131G>A	ENSP00000362588:p.Ala412Thr		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A412T	ENST00000373489.5	37	c.1234	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464255	0.43736	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88741	-2.22;1.86;-2.34;-2.42	6.03	5.08	0.68730	.	0.059154	0.64402	D	0.000002	D	0.87095	0.6092	M	0.70275	2.135	0.58432	D	0.999996	P;P	0.44429	0.506;0.835	B;B	0.35073	0.085;0.195	D	0.88296	0.2946	10	0.48119	T	0.1	.	16.8074	0.85709	0.0:0.1284:0.8716:0.0	.	433;412	Q5JS98;P40426	.;PBX3_HUMAN	T	412;433;231;337	ENSP00000362588:A412T;ENSP00000362586:A433T;ENSP00000362582:A231T;ENSP00000387456:A337T	ENSP00000362582:A231T	A	+	1	0	PBX3	127767952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.861000	0.98227	0.655000	0.94253	GCA	PBX3	-	NULL		0.478	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128728131	1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128728131	G	A	128728131	3	1	1	1	0	0	0	0	1	0	0	0	11518	1087	38	2	1268	2	PBX3	9	128728131	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	14592622	128728131	12485300	48	48										
FRMPD2	143162	genome.wustl.edu	37	chr10	49414917	49414917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gccatctcctcttctggcctCctcttctctgagaatacttg	6	15	5	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:49414917C>G	ENST00000374201.3	-	14	1973	c.1671G>C	c.(1669-1671)agG>agC	p.R557S	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R532S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R525S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	557	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R557S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTTCTGGCCTCCTCTTCTCTG	0.488																																																	1	Substitution - Missense(1)	cervix(1)											110	98	102					10																	49414917		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1671G>C	10.37:g.49414917C>G	ENSP00000363317:p.Arg557Ser		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.R557S	ENST00000374201.3	37	c.1671	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	9.705	1.155498	0.21454	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.81579	-1.51;-1.51;-1.51	5.03	-4.33	0.03677	FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	T	0.60996	0.2312	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.41466	-0.9507	9	0.31617	T	0.26	.	13.4526	0.61180	0.0:0.5739:0.0:0.4261	.	532;557;525	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	S	557;532;525	ENSP00000363317:R557S;ENSP00000307079:R532S;ENSP00000384339:R525S	ENSP00000307079:R532S	R	-	3	2	FRMPD2	49084923	0.195000	0.23338	0.001000	0.08648	0.455000	0.32408	0.074000	0.14662	-0.884000	0.03976	0.563000	0.77884	AGG	FRMPD2	-	pfscan_FERM_domain		0.488	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49414917	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.000	G	G	49414917	C	G	49414917	3	3	1	1	0	0	0	0	1	0	0	0	6076	854	30	1	2322	1	FRMPD2	10	49414917	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		49414917	86119830	49	49										
CTNNA3	29119	genome.wustl.edu	37	chr10	68979522	68979522	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ctttgagggaagcaacatcaGaatgctccaaacaagctgaa	9	9	1	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:68979522G>A	ENST00000433211.2	-	6	860	c.686C>T	c.(685-687)tCt>tTt	p.S229F	CTNNA3_ENST00000545309.1_Missense_Mutation_p.S229F|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S229F	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.S229F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCAACATCAGAATGCTCCAA	0.418																																																	2	Substitution - Missense(2)	cervix(2)											117	115	115					10																	68979522		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.686C>T	10.37:g.68979522G>A	ENSP00000389714:p.Ser229Phe			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S229F	ENST00000433211.2	37	c.686	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880689	0.51801	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.44881	0.91;0.91;0.91	5.4	4.41	0.53225	.	0.000000	0.50627	D	0.000111	T	0.48390	0.1497	L	0.29908	0.895	0.29249	N	0.872123	D;D;P;P	0.55385	0.971;0.971;0.878;0.911	P;P;P;P	0.58331	0.837;0.837;0.785;0.478	T	0.48514	-0.9029	10	0.87932	D	0	-7.9827	15.8121	0.78573	0.0:0.0:0.8547:0.1453	.	229;229;229;229	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	F	229	ENSP00000389714:S229F;ENSP00000362849:S229F;ENSP00000441444:S229F	ENSP00000362849:S229F	S	-	2	0	CTNNA3	68649528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.706000	0.68362	2.538000	0.85594	0.591000	0.81541	TCT	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.418	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68979522	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68979522	G	A	68979522	3	1	1	1	0	0	0	0	1	0	0	0	4019	942	33	1	2053	1	CTNNA3	10	68979522	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	19564605	68979522	66555225	50	50										
OIT3	170392	genome.wustl.edu	37	chr10	74684331	74684331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gtgagcggcttggaaagcttGgtggagagctgctttgccac	16	8	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:74684331G>T	ENST00000334011.5	+	7	1514	c.1296G>T	c.(1294-1296)ttG>ttT	p.L432F		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	432	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L432L(1)|p.L432F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGGAAAGCTTGGTGGAGAGCT	0.557																																					Colon(7;19 345 13446 17537)												2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|lung(1)											83	72	76					10																	74684331		2203	4300	6503	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1296G>T	10.37:g.74684331G>T	ENSP00000333900:p.Leu432Phe		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.L432F	ENST00000334011.5	37	c.1296	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573549	0.45902	.	.	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.5	4.6	0.57074	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.45126	D	0.000389	T	0.65091	0.2658	N	0.10809	0.05	0.47819	D	0.999529	P	0.34757	0.467	B	0.36719	0.231	T	0.59963	-0.7355	10	0.12766	T	0.61	-14.4024	8.048	0.30562	0.1436:0.1308:0.7256:0.0	.	432	Q8WWZ8	OIT3_HUMAN	F	432	ENSP00000333900:L432F	ENSP00000333900:L432F	L	+	3	2	OIT3	74354337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.979000	0.40608	1.322000	0.45245	0.563000	0.77884	TTG	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.557	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	G	NM_152635		74684331	1	no_errors	ENST00000334011	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74684331	G	T	74684331	3	4	1	1	0	0	0	0	1	0	0	0	10873	1339	47	4	1322	4	OIT3	10	74684331	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	5704809	74684331	60850416	51	51										
KCNMA1	3778	genome.wustl.edu	37	chr10	78709021	78709021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gaaagttgctggcacggagcGgcatcaccaggttccggagg	16	10	1	0	rs150678882		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:78709021G>A	ENST00000286628.8	-	22	2587	c.2588C>T	c.(2587-2589)cCg>cTg	p.P863L	KCNMA1_ENST00000404771.3_Missense_Mutation_p.P863L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P867L|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P805L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P866L|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P846L|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P805L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P805L|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000598613.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	863					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.P805L(1)|p.P867L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGCACGGAGCGGCATCACCAG	0.552																																																	2	Substitution - Missense(2)	cervix(2)						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	89	82	84		2426,2588,2537,2414	4.7	1	10	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	98,98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	809/1183,863/1237,846/1220,805/1179	78709021	1,13005	2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2588C>T	10.37:g.78709021G>A	ENSP00000286628:p.Pro863Leu		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.P867L	ENST00000286628.8	37	c.2600		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.874560|4.874560	0.91664|0.91664	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|.	0.52295|.	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67|.	5.63|5.63	4.73|4.73	0.59995|0.59995	NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75997|0.75997	0.3926|0.3926	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	T|T	0.77910|0.77910	-0.2411|-0.2411	10|5	0.87932|.	D|.	0|.	-8.6821|-8.6821	14.7831|14.7831	0.69781|0.69781	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	834;808;846;863;805;616;866;805|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|C	805;742;798;837;800;805;805;837;867;866;846;616|756	ENSP00000361517:P805L;ENSP00000361485:P742L;ENSP00000361514:P798L;ENSP00000396608:P837L;ENSP00000361520:P805L;ENSP00000286627:P805L;ENSP00000385552:P867L;ENSP00000346321:P866L;ENSP00000385806:P846L|.	ENSP00000286627:P805L|.	P|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78379027|78379027	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.992000|0.992000	0.81027|0.81027	9.813000|9.813000	0.99286|0.99286	1.524000|1.524000	0.49035|0.49035	0.655000|0.655000	0.94253|0.94253	CCG|CGC	KCNMA1	-	NULL		0.552	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	G	NM_002247		78709021	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78709021	G	A	78709021	3	1	1	1	0	0	0	0	1	0	0	0	8093	1116	39	2	1179	2	KCNMA1	10	78709021	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	4024690	78709021	56825726	52	52										
PTEN	5728	genome.wustl.edu	37	chr10	89717615	89717615	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tatttaaccatgcagatcctCagtttgtggtctgccagcta	8	10	2	1	rs121909227		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:89717615C>T	ENST00000371953.3	+	7	1997	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	214	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q214*(10)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGATCCTCAGTTTGTGGT	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	60	Whole gene deletion(37)|Substitution - Nonsense(10)|Deletion - Frameshift(10)|Deletion - In frame(1)|Complex - frameshift(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|endometrium(8)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|cervix(1)|soft_tissue(1)	GRCh37	CM981672	PTEN	M	rs121909227						112	99	103					10																	89717615		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.640C>T	10.37:g.89717615C>T	ENSP00000361021:p.Gln214*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q214*	ENST00000371953.3	37	c.640	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.574246	0.99838	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	0.164422	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2072	19.7712	0.96366	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	.	Q	+	1	0	PTEN	89707595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.677000	0.91161	0.585000	0.79938	CAG	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89717615	1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	89717615	C	T	89717615	4	4	1	1	0	0	0	0	0	1	0	0	12765	827	29	1	666	1	PTEN	10	89717615	Nonsense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	11008594	89717615	45817132	53	53										
PDCD11	22984	genome.wustl.edu	37	chr10	105201705	105201705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gcagagagctcagacagcgaGgaggatgagaagccacacca	14	10	1	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr10:105201705G>A	ENST00000369797.3	+	31	4774	c.4680G>A	c.(4678-4680)gaG>gaA	p.E1560E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1560					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.E1560E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGACAGCGAGGAGGATGAGA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											59	70	66					10																	105201705		2203	4300	6503	SO:0001819	synonymous_variant	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4680G>A	10.37:g.105201705G>A			Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.E1560	ENST00000369797.3	37	c.4680	CCDS31276.1	10																																																																																			PDCD11	-	NULL		0.572	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	G			105201705	1	no_errors	ENST00000369797	ensembl	human	known	70_37	silent	SNP	0.943	A	A	105201705	G	A	105201705	2	1	1	1	0	0	0	0	0	0	0	1	11641	991	35	4		4	PDCD11	10	105201705	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	15484090	105201705	30333042	54	54										
ANO9	338440	genome.wustl.edu	37	chr11	433372	433372	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggcgtggggggcaggcccctCaggctccaggaggaaagtgc	19	11	1	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:433372C>T	ENST00000332826.6	-	4	376	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	98					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.E98K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCAGGCCCCTCAGGCTCCAGG	0.652																																																	1	Substitution - Missense(1)	cervix(1)											89	94	93					11																	433372		2203	4299	6502	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.292G>A	11.37:g.433372C>T	ENSP00000332788:p.Glu98Lys		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	pfam_Anoctamin	p.E98K	ENST00000332826.6	37	c.292	CCDS31326.1	11	.	.	.	.	.	.	.	.	.	.	c	9.466	1.094344	0.20471	.	.	ENSG00000185101	ENST00000332826	T	0.66460	-0.21	4.21	2.24	0.28232	.	.	.	.	.	T	0.41581	0.1165	L	0.27053	0.805	0.09310	N	1	P	0.44734	0.842	B	0.31442	0.13	T	0.32188	-0.9916	9	0.05620	T	0.96	.	10.9675	0.47421	0.0:0.6326:0.3673:0.0	.	98	A1A5B4	ANO9_HUMAN	K	98	ENSP00000332788:E98K	ENSP00000332788:E98K	E	-	1	0	ANO9	423372	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.816000	0.27267	0.479000	0.27511	-0.312000	0.09012	GAG	ANO9	-	NULL		0.652	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	C	NM_001012302		433372	-1	no_errors	ENST00000332826	ensembl	human	known	70_37	missense	SNP	0.015	T	T	433372	C	T	433372	3	4	1	1	0	0	0	0	1	0	0	0	704	835	29	1	2136	1	ANO9	11	433372	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		433372	134573144	55	55										
CYB5R2	51700	genome.wustl.edu	37	chr11	7687688	7687688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aatggatgtcgtaccaatggGaggcctgtccagggtgtacc	14	9	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:7687688G>A	ENST00000533558.1	-	8	1208	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	CYB5R2_ENST00000299497.9_Missense_Mutation_p.P218S|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.P218S|CYB5R2_ENST00000524790.1_Missense_Mutation_p.P218S			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	218					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.P218S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCAATGGGAGGCCTGTCC	0.483											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											160	133	142					11																	7687688		2201	4296	6497	SO:0001583	missense	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.652C>T	11.37:g.7687688G>A	ENSP00000437041:p.Pro218Ser	643	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.P218S	ENST00000533558.1	37	c.652	CCDS7780.1	11	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912408	0.33721	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.8	5.8	0.92144	Oxidoreductase FAD/NAD(P)-binding (1);	0.052778	0.85682	D	0.000000	D	0.93562	0.7945	L	0.53671	1.685	0.58432	D	0.999996	B	0.29341	0.242	B	0.35182	0.197	D	0.91501	0.5219	10	0.44086	T	0.13	-12.4231	17.5569	0.87894	0.0:0.0:1.0:0.0	.	218	Q6BCY4	NB5R2_HUMAN	S	218	ENSP00000435916:P218S;ENSP00000299498:P218S;ENSP00000437041:P218S;ENSP00000299497:P218S	ENSP00000299497:P218S	P	-	1	0	CYB5R2	7644264	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	4.197000	0.58413	2.735000	0.93741	0.655000	0.94253	CCC	CYB5R2	-	pfam_OxRdtase_FAD/NAD-bd		0.483	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	G	NM_016229		7687688	-1	no_errors	ENST00000299498	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7687688	G	A	7687688	3	1	1	1	0	0	0	0	1	0	0	0	4132	1174	41	1	186	1	CYB5R2	11	7687688	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	7254316	7687688	127318828	56	56										
OR5D16	390144	genome.wustl.edu	37	chr11	55606854	55606854	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	actgttgccacttttaatgaGataagcacactactcatcat	5	10	2	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:55606854G>C	ENST00000378396.1	+	1	627	c.627G>C	c.(625-627)gaG>gaC	p.E209D		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E209D(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTTTAATGAGATAAGCACAC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											205	171	183					11																	55606854		2201	4296	6497	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.627G>C	11.37:g.55606854G>C	ENSP00000367649:p.Glu209Asp		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E209D	ENST00000378396.1	37	c.627	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	15.32	2.799422	0.50208	.	.	ENSG00000205029	ENST00000378396	T	0.36699	1.24	4.47	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42200	0.1192	M	0.68317	2.08	0.09310	N	1	B	0.33494	0.414	P	0.46049	0.502	T	0.40646	-0.9552	9	0.12766	T	0.61	0.2984	8.7953	0.34876	0.2627:0.0:0.7373:0.0	.	209	Q8NGK9	OR5DG_HUMAN	D	209	ENSP00000367649:E209D	ENSP00000367649:E209D	E	+	3	2	OR5D16	55363430	0.000000	0.05858	0.006000	0.13384	0.938000	0.57974	-0.885000	0.04161	0.454000	0.26884	0.530000	0.56133	GAG	OR5D16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	G	NM_001005496		55606854	1	no_errors	ENST00000378396	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55606854	G	C	55606854	3	2	1	1	0	0	0	0	1	0	0	0	11180	933	33	1	629	1	OR5D16	11	55606854	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	47919166	55606854	79399662	57	57										
OR5W2	390148	genome.wustl.edu	37	chr11	55681565	55681565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tagacccacagaagcataggCggaaggccagtgtcatatgt	12	9	1	2	rs148084259		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:55681565C>T	ENST00000344514.1	-	1	493	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165H(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAGCATAGGCGGAAGGCCAG	0.428																																					Melanoma(48;171 1190 15239 43886 49348)												4	Substitution - Missense(4)	cervix(1)|large_intestine(1)|stomach(1)|kidney(1)						C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	87	77	80		494	1.5	0	11	dbSNP_134	80	0,8592		0,0,4296	yes	missense	OR5W2	NM_001001960.1	29	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	benign	165/311	55681565	2,12992	2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.494G>A	11.37:g.55681565C>T	ENSP00000342448:p.Arg165His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165H	ENST00000344514.1	37	c.494	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	C	3.073	-0.190656	0.06299	4.54E-4	0.0	ENSG00000187612	ENST00000344514	T	0.00169	8.63	4.77	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.602095	0.13398	N	0.390838	T	0.00144	0.0004	L	0.35341	1.055	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.18085	-1.0348	10	0.41790	T	0.15	.	5.688	0.17813	0.0:0.5609:0.1582:0.2809	.	165	Q8NH69	OR5W2_HUMAN	H	165	ENSP00000342448:R165H	ENSP00000342448:R165H	R	-	2	0	OR5W2	55438141	0.000000	0.05858	0.019000	0.16419	0.048000	0.14542	-3.276000	0.00530	0.435000	0.26365	0.549000	0.68633	CGC	OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	C	NM_001001960		55681565	-1	no_errors	ENST00000344514	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55681565	C	T	55681565	3	4	1	1	0	0	0	0	1	0	0	0	11209	768	27	2	440	2	OR5W2	11	55681565	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	74711	55681565	79324951	58	58										
MS4A14	84689	genome.wustl.edu	37	chr11	60183756	60183756	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	acctacttcagcagcccccaGatcttcaaccagaaaacact	4	16	3	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:60183756G>T	ENST00000300187.6	+	5	1592	c.1315G>T	c.(1315-1317)Gat>Tat	p.D439Y	MS4A14_ENST00000395005.2_Missense_Mutation_p.D422Y|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.D472Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.D327Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	439	Gln-rich.					integral component of membrane (GO:0016021)		p.D439Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCAGCCCCCAGATCTTCAACC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											76	76	76					11																	60183756		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1315G>T	11.37:g.60183756G>T	ENSP00000300187:p.Asp439Tyr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.D439Y	ENST00000300187.6	37	c.1315	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185358	0.38609	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.41400	1.0;2.21;1.01;2.58	3.55	2.62	0.31277	.	.	.	.	.	T	0.52869	0.1761	L	0.50333	1.59	0.09310	N	0.999992	D;D	0.76494	0.999;0.998	D;P	0.64237	0.923;0.84	T	0.36237	-0.9756	9	0.66056	D	0.02	0.0069	9.2303	0.37432	0.115:0.0:0.885:0.0	.	422;439	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	327;439;422;472	ENSP00000437222:D327Y;ENSP00000300187:D439Y;ENSP00000378453:D422Y;ENSP00000433761:D472Y	ENSP00000300187:D439Y	D	+	1	0	MS4A14	59940332	0.009000	0.17119	0.001000	0.08648	0.008000	0.06430	0.710000	0.25748	0.785000	0.33685	0.650000	0.86243	GAT	MS4A14	-	NULL		0.413	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	G			60183756	1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	0.005	T	T	60183756	G	T	60183756	3	4	1	1	0	0	0	0	1	0	0	0	9881	942	33	3	1333	3	MS4A14	11	60183756	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	4502191	60183756	74822760	59	59										
MARK2	2011	genome.wustl.edu	37	chr11	63671484	63671484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	catgccagggtcccgggcctCcacggcttctgcttctgccg	12	17	2	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:63671484C>A	ENST00000509502.2	+	15	1902	c.1439C>A	c.(1438-1440)tCc>tAc	p.S480Y	MARK2_ENST00000513765.2_Missense_Mutation_p.S481Y|MARK2_ENST00000377809.4_Missense_Mutation_p.S514Y|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000402010.2_Missense_Mutation_p.S514Y|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.S514Y|MARK2_ENST00000502399.3_Missense_Mutation_p.S513Y	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.S480Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCCGGGCCTCCACGGCTTCT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											33	36	35					11																	63671484		1815	4070	5885	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1439C>A	11.37:g.63671484C>A	ENSP00000423974:p.Ser480Tyr			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S514Y	ENST00000509502.2	37	c.1541	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	c	9.783	1.175939	0.21704	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000502399;ENST00000509502;ENST00000513765	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.31	2.43	0.29744	.	0.076050	0.52532	D	0.000065	T	0.16085	0.0387	N	0.22421	0.69	0.80722	D	1	B;P	0.49253	0.004;0.921	B;B	0.40940	0.012;0.344	T	0.02477	-1.1153	10	0.52906	T	0.07	.	9.5082	0.39060	0.0:0.8226:0.0:0.1774	.	480;514	Q7KZI7-14;Q7KZI7	.;MARK2_HUMAN	Y	514;514;514;513;480;481	ENSP00000385751:S514Y;ENSP00000326632:S514Y;ENSP00000367040:S514Y;ENSP00000423974:S480Y;ENSP00000421075:S481Y	ENSP00000326632:S514Y	S	+	2	0	MARK2	63428060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.957000	0.49137	0.564000	0.29238	0.550000	0.68814	TCC	MARK2	-	NULL		0.657	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	C	NM_017490		63671484	1	no_errors	ENST00000402010	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63671484	C	A	63671484	3	1	1	1	0	0	0	0	1	0	0	0	9336	855	30	3	1599	3	MARK2	11	63671484	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	3487728	63671484	71335032	60	60										
UVRAG	7405	genome.wustl.edu	37	chr11	75727987	75727987	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggtctagatcaacaatcaaaGacaatatcaatgacaaactg	6	8	4	3	rs376775696		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:75727987G>C	ENST00000356136.3	+	12	1430	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H	UVRAG_ENST00000531818.1_Missense_Mutation_p.D25H|UVRAG_ENST00000539288.1_Missense_Mutation_p.D25H|UVRAG_ENST00000528420.1_Missense_Mutation_p.D296H|UVRAG_ENST00000532130.1_Missense_Mutation_p.D25H|UVRAG_ENST00000533454.1_Missense_Mutation_p.D25H	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	397					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.D397H(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACAATCAAAGACAATATCAA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											109	101	104					11																	75727987		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1189G>C	11.37:g.75727987G>C	ENSP00000348455:p.Asp397His		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.D397H	ENST00000356136.3	37	c.1189	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313284	0.81358	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.28255	1.62;1.62	4.49	4.49	0.54785	.	0.044747	0.85682	D	0.000000	T	0.58104	0.2099	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65121	-0.6245	10	0.72032	D	0.01	-17.6402	16.3388	0.83075	0.0:0.0:1.0:0.0	.	397	Q9P2Y5	UVRAG_HUMAN	H	397;296;25;25;25;25	ENSP00000348455:D397H;ENSP00000436039:D296H	ENSP00000348455:D397H	D	+	1	0	UVRAG	75405635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.652000	0.98499	2.320000	0.78422	0.585000	0.79938	GAC	UVRAG	-	NULL		0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75727987	1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75727987	G	C	75727987	3	2	1	1	0	0	0	0	1	0	0	0	17139	942	33	1	1235	1	UVRAG	11	75727987	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	12056503	75727987	59278529	61	61										
RNF214	257160	genome.wustl.edu	37	chr11	117109497	117109497	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggagaaaacttgatagccacAgccctttgtctttctggcag	10	10	2	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:117109497A>C	ENST00000531452.1	+	3	334	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF214_ENST00000300650.4_Silent_p.T96T|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	96							zinc ion binding (GO:0008270)	p.T96T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGATAGCCACAGCCCTTTGTC	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											124	135	131					11																	117109497		1988	4154	6142	SO:0001819	synonymous_variant	257160			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.288A>C	11.37:g.117109497A>C			B2RUW0|B4DTD1	Silent	SNP	pfscan_Znf_RING	p.T96	ENST00000531452.1	37	c.288	CCDS41720.1	11																																																																																			RNF214	-	NULL		0.537	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	A	NM_001077239		117109497	1	no_errors	ENST00000300650	ensembl	human	known	70_37	silent	SNP	1.000	C	C	117109497	A	C	117109497	2	2	1	1	0	0	0	0	0	0	0	1	13508	175	7	5		5	RNF214	11	117109497	Silent	SNP	A	TCGA-BI-A0VR-01A-11D-A10S-08	41381510	117109497	17897019	62	62										
B3GAT1	27087	genome.wustl.edu	37	chr11	134253724	134253724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gggatgcgtgggtcgcgggcGtctccgcgcagcttgtagtt	18	10	1	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr11:134253724G>A	ENST00000524765.1	-	3	5015	c.471C>T	c.(469-471)gaC>gaT	p.D157D	B3GAT1_ENST00000537389.1_Silent_p.D170D|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Silent_p.D157D|B3GAT1_ENST00000392580.1_Silent_p.D157D			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.D157D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGTCGCGGGCGTCTCCGCGCA	0.736																																																	1	Substitution - coding silent(1)	cervix(1)											29	27	28					11																	134253724		2178	4234	6412	SO:0001819	synonymous_variant	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.471C>T	11.37:g.134253724G>A			Q96FS7	Silent	SNP	pfam_Glyco_trans_43	p.D170	ENST00000524765.1	37	c.510	CCDS8500.1	11																																																																																			B3GAT1	-	pfam_Glyco_trans_43		0.736	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	G	NM_018644		134253724	-1	no_errors	ENST00000537389	ensembl	human	known	70_37	silent	SNP	1.000	A	A	134253724	G	A	134253724	2	1	1	1	0	0	0	0	0	0	0	1	1254	1136	40	2		2	B3GAT1	11	134253724	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	17144227	134253724	752792	63	63										
OR6C70	390327	genome.wustl.edu	37	chr12	55863491	55863491	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	aatccagttacccaagaactGaatacaagctggtagcaaac	7	10	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:55863491G>A	ENST00000327335.4	-	1	431	c.432C>T	c.(430-432)ttC>ttT	p.F144F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F144F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CCCAAGAACTGAATACAAGCT	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											72	74	73					12																	55863491		2203	4300	6503	SO:0001819	synonymous_variant	390327				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.432C>T	12.37:g.55863491G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F144	ENST00000327335.4	37	c.432	CCDS31825.1	12																																																																																			OR6C70	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.388	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1	G			55863491	-1	no_errors	ENST00000327335	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55863491	G	A	55863491	2	1	1	1	0	0	0	0	0	0	0	1	11221	1281	45	1		1	OR6C70	12	55863491	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		55863491	77988404	64	64										
UTP20	27340	genome.wustl.edu	37	chr12	101748657	101748657	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agcctgaggccatggaattaGagcgtgtggatgaggaagag	17	5	0	4			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:101748657G>A	ENST00000261637.4	+	41	5329	c.5155G>A	c.(5155-5157)Gag>Aag	p.E1719K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1719					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E1719K(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATGGAATTAGAGCGTGTGGA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											96	85	89					12																	101748657		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5155G>A	12.37:g.101748657G>A	ENSP00000261637:p.Glu1719Lys		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E1719K	ENST00000261637.4	37	c.5155	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500221	0.26861	.	.	ENSG00000120800	ENST00000261637	T	0.20463	2.07	5.79	5.79	0.91817	Armadillo-type fold (1);	0.269787	0.41605	D	0.000853	T	0.15739	0.0379	L	0.50333	1.59	0.09310	N	0.999997	P	0.40578	0.722	B	0.33454	0.164	T	0.29058	-1.0024	10	0.06757	T	0.87	-11.4472	13.1611	0.59544	0.0:0.1601:0.8398:0.0	.	1719	O75691	UTP20_HUMAN	K	1719	ENSP00000261637:E1719K	ENSP00000261637:E1719K	E	+	1	0	UTP20	100272788	1.000000	0.71417	0.031000	0.17742	0.009000	0.06853	6.108000	0.71522	2.733000	0.93635	0.655000	0.94253	GAG	UTP20	-	superfamily_ARM-type_fold		0.438	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101748657	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.092	A	A	101748657	G	A	101748657	3	1	1	1	0	0	0	0	1	0	0	0	17130	943	33	1	5317	1	UTP20	12	101748657	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	45885166	101748657	32103238	65	65										
RPH3A	22895	genome.wustl.edu	37	chr12	113266130	113266130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	actagacatctactatgactGacaccgtgttcagcaacagt	7	11	2	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:113266130G>C	ENST00000389385.4	+	3	504	c.7G>C	c.(7-9)Gac>Cac	p.D3H	RPH3A_ENST00000543106.2_Missense_Mutation_p.D3H|RPH3A_ENST00000548866.1_Missense_Mutation_p.D3H|RPH3A_ENST00000420983.2_Missense_Mutation_p.D3H|RPH3A_ENST00000551052.1_Missense_Mutation_p.D3H|RPH3A_ENST00000447659.2_Missense_Mutation_p.D3H|RPH3A_ENST00000415485.3_Missense_Mutation_p.D3H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	3					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.D3H(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TACTATGACTGACACCGTGTT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											191	163	173					12																	113266130		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.7G>C	12.37:g.113266130G>C	ENSP00000374036:p.Asp3His		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.D3H	ENST00000389385.4	37	c.7	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965853	0.74131	.	.	ENSG00000089169	ENST00000549736;ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000546426;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.79247	-0.71;-0.71;-1.19;-0.71;-0.71;-1.25;-0.71	5.7	5.7	0.88788	Rabphilin-3A effector, zinc-binding (1);	0.292675	0.29028	N	0.013380	D	0.86372	0.5917	M	0.62723	1.935	0.44515	D	0.997463	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.87097	0.2176	10	0.87932	D	0	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	3;3;3;3	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	3	ENSP00000440384:D3H;ENSP00000374036:D3H;ENSP00000413254:D3H;ENSP00000448297:D3H;ENSP00000405357:D3H;ENSP00000450347:D3H;ENSP00000408889:D3H	ENSP00000374036:D3H	D	+	1	0	RPH3A	111750513	0.999000	0.42202	0.965000	0.40720	0.794000	0.44872	4.419000	0.59835	2.696000	0.92011	0.655000	0.94253	GAC	RPH3A	-	pfam_Rabphilin3A_effector_Zn-bd		0.483	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	G	NM_014954		113266130	1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113266130	G	C	113266130	3	2	1	1	0	0	0	0	1	0	0	0	13581	1290	45	1	9	1	RPH3A	12	113266130	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	11517473	113266130	20585765	66	66										
OAS1	4938	genome.wustl.edu	37	chr12	113354509	113354509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	actttaaaaaccccattattGaaaagtacctgagaaggcag	7	8	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr12:113354509G>A	ENST00000202917.5	+	4	1113	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	OAS1_ENST00000452357.2_Missense_Mutation_p.E284K|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.E284K|OAS1_ENST00000445409.2_Missense_Mutation_p.E284K	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	284					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.E284K(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CCCCATTATTGAAAAGTACCT	0.453																																																	3	Substitution - Missense(3)	cervix(3)											90	88	89					12																	113354509		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.850G>A	12.37:g.113354509G>A	ENSP00000202917:p.Glu284Lys		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E284K	ENST00000202917.5	37	c.850	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	5.163	0.215597	0.09810	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689;ENST00000553152	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.82	-5.64	0.02466	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	4.141010	0.00589	N	0.000344	T	0.18299	0.0439	N	0.05012	-0.13	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.002;0.002	T	0.24835	-1.0149	10	0.08381	T	0.77	1.1971	6.9572	0.24578	0.614:0.0:0.2274:0.1586	.	284;284;284;284;284	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	K	284;284;284;284;284;280;30	ENSP00000202917:E284K;ENSP00000388001:E284K;ENSP00000415721:E284K;ENSP00000448790:E284K;ENSP00000448348:E280K;ENSP00000449053:E30K	ENSP00000202917:E284K	E	+	1	0	OAS1	111838892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.852000	0.04308	-1.639000	0.01527	-1.987000	0.00451	GAA	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.453	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	G			113354509	1	no_errors	ENST00000445409	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113354509	G	A	113354509	3	1	1	1	0	0	0	0	1	0	0	0	10823	1291	45	1	864	1	OAS1	12	113354509	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	88379	113354509	20497386	67	67										
NUPL1	9818	genome.wustl.edu	37	chr13	25894700	25894700	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tctgaaggatgaaaatctacCtcctgtcatctgccaggatg	9	10	4	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:25894700C>G	ENST00000381736.3	+	8	993	c.743C>G	c.(742-744)cCt>cGt	p.P248R	NUPL1_ENST00000463407.1_Missense_Mutation_p.P248R|NUPL1_ENST00000466694.1_Intron|NUPL1_ENST00000381718.3_Missense_Mutation_p.P236R	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	248	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.P248R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GAAAATCTACCTCCTGTCATC	0.323																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												1	Substitution - Missense(1)	cervix(1)											64	68	67					13																	25894700		2203	4299	6502	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.743C>G	13.37:g.25894700C>G	ENSP00000371155:p.Pro248Arg		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.P248R	ENST00000381736.3	37	c.743	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752798	0.89753	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.67345	0.4;0.49;0.48;0.55;-0.26	5.73	5.73	0.89815	.	0.094648	0.85682	D	0.000000	T	0.82263	0.4999	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.989;0.992;0.974	T	0.83082	-0.0137	10	0.87932	D	0	-9.2072	20.0726	0.97729	0.0:1.0:0.0:0.0	.	236;248;248	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	R	248;236;225;248;236;248;195	ENSP00000371155:P248R;ENSP00000418555:P248R;ENSP00000371137:P236R;ENSP00000371166:P248R;ENSP00000408147:P195R	ENSP00000318459:P225R	P	+	2	0	NUPL1	24792700	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.105000	0.77031	2.753000	0.94483	0.579000	0.79373	CCT	NUPL1	-	NULL		0.323	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	C			25894700	1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25894700	C	G	25894700	3	3	1	1	0	0	0	0	1	0	0	0	10798	681	24	4	773	4	NUPL1	13	25894700	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		25894700	89275178	68	68										
HSPH1	10808	genome.wustl.edu	37	chr13	31724198	31724198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cacagctggaattcgtgtagCgcctccaacaatctcaactg	8	13	1	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:31724198C>T	ENST00000320027.5	-	8	1374	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	HSPH1_ENST00000380405.4_Missense_Mutation_p.A344T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A346T|HSPH1_ENST00000429785.2_Missense_Mutation_p.A163T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A303T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	344					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A344T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ATTCGTGTAGCGCCTCCAACA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											137	135	135					13																	31724198		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1030G>A	13.37:g.31724198C>T	ENSP00000318687:p.Ala344Thr		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A346T	ENST00000320027.5	37	c.1036	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	C	8.353	0.831257	0.16820	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.68	-2.3	0.06785	Heat shock protein 70, conserved site (1);	0.272209	0.34750	N	0.003708	T	0.18800	0.0451	N	0.20845	0.615	0.46028	D	0.998827	B;B;B;B;B	0.24963	0.049;0.005;0.115;0.011;0.049	B;B;B;B;B	0.24006	0.05;0.007;0.05;0.01;0.03	T	0.03193	-1.1062	10	0.44086	T	0.13	-6.0088	15.1262	0.72483	0.0:0.6883:0.0:0.3117	.	163;303;346;344;344	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	T	344;344;303;346;163;395	ENSP00000318687:A344T;ENSP00000369768:A344T;ENSP00000369769:A303T;ENSP00000396090:A346T;ENSP00000388778:A163T	ENSP00000318687:A344T	A	-	1	0	HSPH1	30622198	0.875000	0.30112	0.400000	0.26346	0.050000	0.14768	1.451000	0.35145	-0.627000	0.05589	-0.229000	0.12294	GCT	HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam		0.418	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	C			31724198	-1	no_errors	ENST00000445273	ensembl	human	known	70_37	missense	SNP	0.815	T	T	31724198	C	T	31724198	3	4	1	1	0	0	0	0	1	0	0	0	7451	768	27	2	1590	2	HSPH1	13	31724198	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	5829498	31724198	83445680	69	69										
THSD1	55901	genome.wustl.edu	37	chr13	52972113	52972113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agtcaccagcctccttgaaaTagaagcactcaaactttagt	6	11	2	2	rs373901957		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:52972113T>C	ENST00000258613.4	-	3	453	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.Y92C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	92					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.Y92C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCCTTGAAATAGAAGCACTC	0.493																																																	1	Substitution - Missense(1)	cervix(1)						T	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	141	122	128		275,275	3	1	13		128	0,8600		0,0,4300	no	missense,missense	THSD1	NM_018676.3,NM_199263.2	194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	92/853,92/800	52972113	1,13005	2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.275A>G	13.37:g.52972113T>C	ENSP00000258613:p.Tyr92Cys		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Y92C	ENST00000258613.4	37	c.275	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395971	0.42512	2.27E-4	0.0	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.16457	2.34;2.51	5.5	2.98	0.34508	.	0.413631	0.27327	N	0.019870	T	0.29223	0.0727	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.931	T	0.01956	-1.1240	10	0.31617	T	0.26	-6.2533	6.6629	0.23024	0.1367:0.0746:0.0:0.7887	.	92;92	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	92	ENSP00000340650:Y92C;ENSP00000258613:Y92C	ENSP00000258613:Y92C	Y	-	2	0	THSD1	51870114	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	1.631000	0.37092	0.351000	0.24027	0.459000	0.35465	TAT	THSD1	-	NULL		0.493	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	T			52972113	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52972113	T	C	52972113	3	2	1	1	0	0	0	0	1	0	0	0	15907	1406	49	5	2295	5	THSD1	13	52972113	Missense_Mutation	SNP	T	TCGA-BI-A0VR-01A-11D-A10S-08	21247915	52972113	62197765	70	70										
SCEL	8796	genome.wustl.edu	37	chr13	78176203	78176203	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cccccaatgttgtaaagaatCcaaagccttggaagtccgat	8	11	0	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr13:78176203C>T	ENST00000349847.3	+	16	1005	c.921C>T	c.(919-921)atC>atT	p.I307I	SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000535157.1_Silent_p.I285I|SCEL_ENST00000469982.1_3'UTR|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Silent_p.I287I	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	307	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.I307I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGTAAAGAATCCAAAGCCTTG	0.393																																																	1	Substitution - coding silent(1)	cervix(1)											63	65	64					13																	78176203		2203	4300	6503	SO:0001819	synonymous_variant	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.921C>T	13.37:g.78176203C>T			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.I307	ENST00000349847.3	37	c.921	CCDS9459.1	13																																																																																			SCEL	-	NULL		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	C	NM_144777		78176203	1	no_errors	ENST00000349847	ensembl	human	known	70_37	silent	SNP	0.828	T	T	78176203	C	T	78176203	2	4	1	1	0	0	0	0	0	0	0	1	13918	845	30	1		1	SCEL	13	78176203	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	25204090	78176203	36993675	71	71										
ARID4A	5926	genome.wustl.edu	37	chr14	58817911	58817911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	atgtagatgatgactatgaaActgcagagaaaaaagaaaat	9	3	0	6			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:58817911A>G	ENST00000355431.3	+	16	1898	c.1525A>G	c.(1525-1527)Act>Gct	p.T509A	ARID4A_ENST00000431317.2_Missense_Mutation_p.T509A|ARID4A_ENST00000395168.3_Missense_Mutation_p.T509A|ARID4A_ENST00000348476.3_Missense_Mutation_p.T509A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	509					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T509A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGACTATGAAACTGCAGAGAA	0.299																																																	2	Substitution - Missense(2)	cervix(2)											72	80	77					14																	58817911		2200	4298	6498	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1525A>G	14.37:g.58817911A>G	ENSP00000347602:p.Thr509Ala		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.T509A	ENST00000355431.3	37	c.1525	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	A	1.221	-0.626934	0.03610	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.42900	0.96;2.49;2.5;2.49;2.47	5.3	1.54	0.23209	.	0.738549	0.13598	N	0.376073	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B;B	0.19706	0.038;0.0;0.038	B;B;B	0.15484	0.013;0.0;0.013	T	0.28776	-1.0033	10	0.08381	T	0.77	-3.2399	7.9366	0.29933	0.6754:0.2563:0.0683:0.0	.	509;509;509	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	A	509;509;509;509;187	ENSP00000347602:T509A;ENSP00000344556:T509A;ENSP00000378597:T509A;ENSP00000397368:T509A;ENSP00000416053:T187A	ENSP00000344556:T509A	T	+	1	0	ARID4A	57887664	0.921000	0.31238	0.412000	0.26496	0.923000	0.55619	3.048000	0.49862	0.092000	0.17331	-0.274000	0.10170	ACT	ARID4A	-	NULL		0.299	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	A	NM_023001		58817911	1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	0.171	G	G	58817911	A	G	58817911	3	3	1	1	0	0	0	0	1	0	0	0	919	43	2	5	1583	5	ARID4A	14	58817911	Missense_Mutation	SNP	A	TCGA-BI-A0VR-01A-11D-A10S-08		58817911	48531629	72	72										
ALDH6A1	4329	genome.wustl.edu	37	chr14	74534264	74534264	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggcatgactaccccatggttCttggctccctaaaaaaaaat	7	11	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:74534264C>T	ENST00000553458.1	-	8	959	c.861G>A	c.(859-861)aaG>aaA	p.K287K	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Silent_p.K4K|ALDH6A1_ENST00000350259.4_Silent_p.K274K|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	287					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.K287K(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CCCCATGGTTCTTGGCTCCCT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											64	65	65					14																	74534264		2203	4300	6503	SO:0001819	synonymous_variant	4329			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.861G>A	14.37:g.74534264C>T			B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	p.K287	ENST00000553458.1	37	c.861	CCDS9826.1	14																																																																																			ALDH6A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH		0.478	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH6A1	HGNC	protein_coding	OTTHUMT00000412309.1	C			74534264	-1	no_errors	ENST00000553458	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74534264	C	T	74534264	2	4	1	1	0	0	0	0	0	0	0	1	503	912	32	1		1	ALDH6A1	14	74534264	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	15716353	74534264	32815276	73	73										
AK7	122481	genome.wustl.edu	37	chr14	96858567	96858567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gggtgtttataaacctgttgGattcctacagcagcggaaac	11	8	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:96858567G>T	ENST00000267584.4	+	1	120	c.76G>T	c.(76-78)Gat>Tat	p.D26Y	AK7_ENST00000555570.1_Missense_Mutation_p.D26Y	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	26					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D26Y(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AAACCTGTTGGATTCCTACAG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											57	64	62					14																	96858567		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.76G>T	14.37:g.96858567G>T	ENSP00000267584:p.Asp26Tyr		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.D26Y	ENST00000267584.4	37	c.76	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854761	0.71719	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.63096	-0.02	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.81341	2.54	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.83231	-0.0063	10	0.87932	D	0	-40.8257	15.9171	0.79527	0.0:0.0:1.0:0.0	.	26;26	Q96M32;G3V365	KAD7_HUMAN;.	Y	26	ENSP00000267584:D26Y	ENSP00000267584:D26Y	D	+	1	0	AK7	95928320	1.000000	0.71417	0.990000	0.47175	0.547000	0.35210	5.346000	0.65992	2.407000	0.81776	0.462000	0.41574	GAT	AK7	-	NULL		0.617	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G			96858567	1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96858567	G	T	96858567	3	4	1	1	0	0	0	0	1	0	0	0	444	1174	41	3	78	3	AK7	14	96858567	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	22324303	96858567	10490973	74	74										
ADSSL1	122622	genome.wustl.edu	37	chr14	105196350	105196350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cagccctcccctggctgcctCcaaggagtctccagttactg	9	17	1	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr14:105196350C>T	ENST00000332972.5	+	1	280	c.121C>T	c.(121-123)Cca>Tca	p.P41S	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1									p.P41S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CTGGCTGCCTCCAAGGAGTCT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											37	33	35					14																	105196350		2189	4292	6481	SO:0001583	missense	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.121C>T	14.37:g.105196350C>T	ENSP00000333019:p.Pro41Ser			Missense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.P41S	ENST00000332972.5	37	c.121	CCDS9991.1	14	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031164	0.35797	.	.	ENSG00000185100	ENST00000332972	T	0.47528	0.84	0.759	0.759	0.18438	.	25.424700	0.00597	U	0.000375	T	0.27866	0.0686	N	0.08118	0	0.19945	N	0.999942	B	0.31655	0.334	B	0.22386	0.039	T	0.33675	-0.9859	9	0.87932	D	0	.	.	.	.	.	41	Q8N142-2	.	S	41	ENSP00000333019:P41S	ENSP00000333019:P41S	P	+	1	0	ADSSL1	104267395	0.002000	0.14202	0.016000	0.15963	0.017000	0.09413	0.857000	0.27831	0.691000	0.31592	0.205000	0.17691	CCA	ADSSL1	-	NULL		0.662	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	ADSSL1	HGNC	protein_coding	OTTHUMT00000410531.1	C			105196350	1	no_errors	ENST00000332972	ensembl	human	known	70_37	missense	SNP	0.048	T	T	105196350	C	T	105196350	3	4	1	1	0	0	0	0	1	0	0	0	348	855	30	1	319	1	ADSSL1	14	105196350	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	8337783	105196350	2153190	75	75										
TSC2	7249	genome.wustl.edu	37	chr16	2106737	2106737	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gttaccctctgtcgcaccatCaacgtcaaggagctctgcga	9	14	4	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:2106737C>T	ENST00000219476.3	+	8	1371	c.741C>T	c.(739-741)atC>atT	p.I247I	TSC2_ENST00000382538.6_Silent_p.I198I|TSC2_ENST00000568454.1_Silent_p.I258I|TSC2_ENST00000353929.4_Silent_p.I247I|TSC2_ENST00000350773.4_Silent_p.I247I|TSC2_ENST00000401874.2_Silent_p.I247I|TSC2_ENST00000439673.2_Silent_p.I210I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	247	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.I247I(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTCGCACCATCAACGTCAAGG	0.597			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	2	Substitution - coding silent(2)	cervix(2)											116	105	109					16																	2106737		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.741C>T	16.37:g.2106737C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.I247	ENST00000219476.3	37	c.741	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.597	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2106737	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2106737	C	T	2106737	2	4	1	1	0	0	0	0	0	0	0	1	16637	816	29	1		1	TSC2	16	2106737	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		2106737	88248016	76	76										
PARN	5073	genome.wustl.edu	37	chr16	14540804	14540804	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tggcctttttccttccctctGagaggggctctgcacaggaa	11	12	2	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:14540804G>A	ENST00000437198.2	-	23	1946	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L	PARN_ENST00000341484.7_Missense_Mutation_p.S541L|PARN_ENST00000539279.1_Missense_Mutation_p.S427L|PARN_ENST00000420015.2_Missense_Mutation_p.S556L	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	602					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.S602L(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCTTCCCTCTGAGAGGGGCTC	0.512																																																	2	Substitution - Missense(2)	cervix(2)											116	113	114					16																	14540804		1854	4094	5948	SO:0001583	missense	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1805C>T	16.37:g.14540804G>A	ENSP00000387911:p.Ser602Leu		B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.S602L	ENST00000437198.2	37	c.1805	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249472	0.59212	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.65	4.69	0.59074	.	0.728951	0.13283	N	0.399634	T	0.23766	0.0575	N	0.08118	0	0.28128	N	0.930337	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.04752	-1.0929	9	0.30078	T	0.28	-0.988	11.3443	0.49552	0.0843:0.0:0.9157:0.0	.	427;556;602	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	L	602;541;556;427	.	ENSP00000345456:S541L	S	-	2	0	PARN	14448305	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.138000	0.58017	2.827000	0.97445	0.650000	0.86243	TCA	PARN	-	NULL		0.512	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	HGNC	protein_coding	OTTHUMT00000422383.1	G	NM_002582		14540804	-1	no_errors	ENST00000437198	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14540804	G	A	14540804	3	1	1	1	0	0	0	0	1	0	0	0	11477	1294	45	1	122	1	PARN	16	14540804	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	12434067	14540804	75813949	77	77										
CMTM4	146223	genome.wustl.edu	37	chr16	66670350	66670350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gggatcctcatgtgcaggttGagactgaacataatcagcaa	11	8	2	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:66670350G>A	ENST00000330687.4	-	2	502	c.321C>T	c.(319-321)ctC>ctT	p.L107L	CMTM4_ENST00000394106.2_Silent_p.L107L|CMTM4_ENST00000563952.1_Silent_p.L78L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	107	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L107L(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		TGTGCAGGTTGAGACTGAACA	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											91	74	80					16																	66670350		2201	4300	6501	SO:0001819	synonymous_variant	146223			AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"chemokine-like factor super family 4", "chemokine-like factor superfamily 4"	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.321C>T	16.37:g.66670350G>A			Q52M40|Q8IZR4|Q8IZV1	Silent	SNP	pfam_MARVEL-like_dom	p.L107	ENST00000330687.4	37	c.321	CCDS10817.1	16																																																																																			CMTM4	-	pfam_MARVEL-like_dom		0.522	CMTM4-001	KNOWN	basic|CCDS	protein_coding	CMTM4	HGNC	protein_coding	OTTHUMT00000268807.1	G			66670350	-1	no_errors	ENST00000330687	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66670350	G	A	66670350	2	1	1	1	0	0	0	0	0	0	0	1	3590	1277	45	1		1	CMTM4	16	66670350	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	52129546	66670350	23684403	78	78										
CNTNAP4	85445	genome.wustl.edu	37	chr16	76528926	76528926	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agggaaactgcattgattctCagtattactgcaattgtgat	9	6	1	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr16:76528926C>A	ENST00000476707.1	+	13	2348	c.2209C>A	c.(2209-2211)Cag>Aag	p.Q737K	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q685K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q661K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q733K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	734	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.Q709K(1)|p.Q661K(1)|p.Q733K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CATTGATTCTCAGTATTACTG	0.373																																																	3	Substitution - Missense(3)	cervix(3)											170	166	167					16																	76528926		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2209C>A	16.37:g.76528926C>A	ENSP00000417628:p.Gln737Lys		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q733K	ENST00000476707.1	37	c.2197		16	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631837	0.46944	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.18	5.18	0.71444	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.39083	N	0.001469	T	0.11793	0.0287	.	.	.	0.42943	D	0.994351	B;B;B;P	0.44260	0.209;0.129;0.024;0.83	B;B;B;B	0.43478	0.097;0.068;0.041;0.421	T	0.17745	-1.0359	9	0.14252	T	0.57	.	18.8634	0.92281	0.0:1.0:0.0:0.0	.	661;737;709;734	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	K	733;685;661;737	ENSP00000306893:Q733K;ENSP00000439733:Q685K;ENSP00000418741:Q661K;ENSP00000417628:Q737K	ENSP00000306893:Q733K	Q	+	1	0	CNTNAP4	75086427	0.964000	0.33143	0.762000	0.31397	0.861000	0.49209	2.716000	0.47219	2.861000	0.98227	0.650000	0.86243	CAG	CNTNAP4	-	NULL		0.373	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	C	NM_033401		76528926	1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	0.848	A	A	76528926	C	A	76528926	3	1	1	1	0	0	0	0	1	0	0	0	3654	827	29	3	2267	3	CNTNAP4	16	76528926	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	9858576	76528926	13825827	79	79										
DHX33	56919	genome.wustl.edu	37	chr17	5359354	5359354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	agactcggagctgctgtgcaTagggcagggaggcgtacaga	17	8	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:5359354T>C	ENST00000225296.3	-	5	1198	c.998A>G	c.(997-999)tAt>tGt	p.Y333C	DHX33_ENST00000433302.3_Silent_p.L146L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	333	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.Y333C(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCTGTGCATAGGGCAGGGA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											122	94	103					17																	5359354		2203	4300	6503	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.998A>G	17.37:g.5359354T>C	ENSP00000225296:p.Tyr333Cys		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y333C	ENST00000225296.3	37	c.998	CCDS11072.1	17	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457420	0.63401	.	.	ENSG00000005100	ENST00000225296	T	0.75154	-0.91	5.78	2.21	0.28008	Helicase, C-terminal (3);	0.234074	0.45126	D	0.000385	T	0.79387	0.4437	M	0.70595	2.14	0.24457	N	0.994451	P	0.45011	0.848	P	0.56343	0.796	T	0.69390	-0.5158	10	0.87932	D	0	.	7.0538	0.25087	0.0:0.1395:0.1263:0.7342	.	333	Q9H6R0	DHX33_HUMAN	C	333	ENSP00000225296:Y333C	ENSP00000225296:Y333C	Y	-	2	0	DHX33	5300078	0.999000	0.42202	0.873000	0.34254	0.978000	0.69477	2.972000	0.49256	1.012000	0.39366	0.533000	0.62120	TAT	DHX33	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.612	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	HGNC	protein_coding	OTTHUMT00000219826.2	T	NM_020162		5359354	-1	no_errors	ENST00000225296	ensembl	human	known	70_37	missense	SNP	0.305	C	C	5359354	T	C	5359354	3	2	1	1	0	0	0	0	1	0	0	0	4516	1406	49	5	1157	5	DHX33	17	5359354	Missense_Mutation	SNP	T	TCGA-BI-A0VR-01A-11D-A10S-08		5359354	75835856	80	80										
MED31	51003	genome.wustl.edu	37	chr17	6553727	6553727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cacaaattccaactccaactGaaaccgaagtcgatttccag	5	13	0	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:6553727G>A	ENST00000225728.3	-	2	160	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	MED31_ENST00000574128.1_5'UTR|C17orf100_ENST00000391428.2_5'Flank|MED31_ENST00000575197.1_Nonsense_Mutation_p.Q19*	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	19					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q19*(1)		cervix(1)|endometrium(1)|large_intestine(1)	3						AACTCCAACTGAAACCGAAGT	0.348																																																	1	Substitution - Nonsense(1)	cervix(1)											118	113	115					17																	6553727		2203	4300	6503	SO:0001587	stop_gained	51003			AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.55C>T	17.37:g.6553727G>A	ENSP00000225728:p.Gln19*		B2R4L9	Nonsense_Mutation	SNP	pfam_Mediator_Med31	p.Q19*	ENST00000225728.3	37	c.55	CCDS11078.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.886231	0.97068	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.8509	17.7323	0.88382	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000225728:Q19X	Q	-	1	0	MED31	6494451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.652000	0.91083	2.868000	0.98415	0.557000	0.71058	CAG	MED31	-	pfam_Mediator_Med31		0.348	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED31	HGNC	protein_coding	OTTHUMT00000219852.1	G	NM_016060		6553727	-1	no_errors	ENST00000225728	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	6553727	G	A	6553727	4	1	1	1	0	0	0	0	0	1	0	0	9472	1299	45	1	352	1	MED31	17	6553727	Nonsense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	1194373	6553727	74641483	81	81										
KDM6B	23135	genome.wustl.edu	37	chr17	7752018	7752018	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cccagcccggccagcctgctCaaatccttggcctccgtgct	9	19	1	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:7752018C>G	ENST00000448097.2	+	11	2743	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	KDM6B_ENST00000254846.5_Silent_p.L804L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	804	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L804L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAGCCTGCTCAAATCCTTGG	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											33	36	35					17																	7752018		2201	4299	6500	SO:0001819	synonymous_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2412C>G	17.37:g.7752018C>G			C9IZ40|Q96G33	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L804	ENST00000448097.2	37	c.2412		17																																																																																			KDM6B	-	NULL		0.642	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	C	XM_043272		7752018	1	no_errors	ENST00000254846	ensembl	human	known	70_37	silent	SNP	1.000	G	G	7752018	C	G	7752018	2	3	1	1	0	0	0	0	0	0	0	1	8158	813	29	1		1	KDM6B	17	7752018	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	1198291	7752018	73443192	82	82										
TOP2A	7153	genome.wustl.edu	37	chr17	38556817	38556817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	acgggaagctctgagatttcAatggttgtagaattaagaat	11	4	2	3			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:38556817A>G	ENST00000423485.1	-	22	2921	c.2763T>C	c.(2761-2763)atT>atC	p.I921I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	921					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.I921I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTGAGATTTCAATGGTTGTAG	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											92	78	82					17																	38556817		1822	4085	5907	SO:0001819	synonymous_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2763T>C	17.37:g.38556817A>G			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.I921	ENST00000423485.1	37	c.2763	CCDS45672.1	17																																																																																			TOP2A	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	A			38556817	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	silent	SNP	1.000	G	G	38556817	A	G	38556817	2	3	1	1	0	0	0	0	0	0	0	1	16396	126	5	5		5	TOP2A	17	38556817	Silent	SNP	A	TCGA-BI-A0VR-01A-11D-A10S-08	30804799	38556817	42638393	83	83										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40837369	40837369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	acggtcttctgctgcacgccGagggcgcccagggcgactac	14	15	2	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:40837369G>A	ENST00000264638.4	+	5	863	c.646G>A	c.(646-648)Gag>Aag	p.E216K	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	216	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.E216K(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCTGCACGCCGAGGGCGCCCA	0.662																																																	1	Substitution - Missense(1)	cervix(1)											81	69	73					17																	40837369		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.646G>A	17.37:g.40837369G>A	ENSP00000264638:p.Glu216Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E216K	ENST00000264638.4	37	c.646	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.320588	0.95682	.	.	ENSG00000108797	ENST00000264638	T	0.80033	-1.33	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.77811	0.4186	L	0.61036	1.89	0.54753	D	0.999983	P	0.45827	0.867	B	0.38106	0.265	T	0.79909	-0.1604	10	0.41790	T	0.15	.	16.7162	0.85398	0.0:0.0:1.0:0.0	.	216	P78357	CNTP1_HUMAN	K	216	ENSP00000264638:E216K	ENSP00000264638:E216K	E	+	1	0	CNTNAP1	38090895	1.000000	0.71417	0.935000	0.37517	0.754000	0.42855	9.115000	0.94336	2.344000	0.79699	0.561000	0.74099	GAG	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.662	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40837369	1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40837369	G	A	40837369	3	1	1	1	0	0	0	0	1	0	0	0	3651	1059	37	1	664	1	CNTNAP1	17	40837369	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	2280552	40837369	40357841	84	84										
MPP2	4355	genome.wustl.edu	37	chr17	41956724	41956724	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tcgaagtctggggcctcgatGaacaccacgtaagggacaaa	12	10	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:41956724G>A	ENST00000461854.1	-	13	1558	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	MPP2_ENST00000520305.1_Silent_p.F328F|MPP2_ENST00000523501.1_Silent_p.F456F|MPP2_ENST00000377184.3_Silent_p.F484F|MPP2_ENST00000536246.1_Silent_p.F456F|MPP2_ENST00000518766.1_Silent_p.F512F|MPP2_ENST00000269095.4_Silent_p.F467F			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	491	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.F467F(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGGCCTCGATGAACACCACGT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											112	100	104					17																	41956724		2203	4300	6503	SO:0001819	synonymous_variant	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1473C>T	17.37:g.41956724G>A			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.F491	ENST00000461854.1	37	c.1473		17																																																																																			MPP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	G	NM_005374		41956724	-1	no_errors	ENST00000461854	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41956724	G	A	41956724	2	1	1	1	0	0	0	0	0	0	0	1	9757	1281	45	1		1	MPP2	17	41956724	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	1119355	41956724	39238486	85	85										
ABCA10	10349	genome.wustl.edu	37	chr17	67171601	67171601	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggagaaacgcagtttgtgatCaacaacaaaaatatggaccc	9	8	1	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr17:67171601C>G	ENST00000269081.4	-	24	3732	c.2823G>C	c.(2821-2823)ttG>ttC	p.L941F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	941					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L941F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTTTGTGATCAACAACAAAA	0.358																																																	1	Substitution - Missense(1)	cervix(1)											116	105	109					17																	67171601		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2823G>C	17.37:g.67171601C>G	ENSP00000269081:p.Leu941Phe		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L941F	ENST00000269081.4	37	c.2823	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271468	0.05716	.	.	ENSG00000154263	ENST00000269081	D	0.86865	-2.18	3.31	-6.62	0.01813	.	1.022090	0.07895	N	0.971823	T	0.73297	0.3569	L	0.43152	1.355	0.09310	N	0.999996	B	0.17038	0.02	B	0.20384	0.029	T	0.60816	-0.7188	10	0.09590	T	0.72	.	1.0527	0.01583	0.3219:0.3294:0.205:0.1437	.	941	Q8WWZ4	ABCAA_HUMAN	F	941	ENSP00000269081:L941F	ENSP00000269081:L941F	L	-	3	2	ABCA10	64683196	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.874000	0.00718	-1.132000	0.02907	0.400000	0.26472	TTG	ABCA10	-	NULL		0.358	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67171601	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	0.000	G	G	67171601	C	G	67171601	3	3	1	1	0	0	0	0	1	0	0	0	29	825	29	1	1876	1	ABCA10	17	67171601	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	25214877	67171601	14023609	86	86										
CETN1	1068	genome.wustl.edu	37	chr18	580567	580567	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	accatcgacgcgaaggagctGaaggtggccatgagagcgct	15	10	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr18:580567G>A	ENST00000327228.3	+	1	201	c.159G>A	c.(157-159)ctG>ctA	p.L53L		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.L53L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGAAGGAGCTGAAGGTGGCCA	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											84	63	70					18																	580567		2203	4300	6503	SO:0001819	synonymous_variant	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.159G>A	18.37:g.580567G>A			B2R536	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L53	ENST00000327228.3	37	c.159	CCDS11820.1	18																																																																																			CETN1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN1	HGNC	protein_coding	OTTHUMT00000254314.2	G	NM_004066		580567	1	no_errors	ENST00000327228	ensembl	human	known	70_37	silent	SNP	0.991	A	A	580567	G	A	580567	2	1	1	1	0	0	0	0	0	0	0	1	3279	1277	45	1		1	CETN1	18	580567	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		580567	77496681	87	87										
CPLX4	339302	genome.wustl.edu	37	chr18	56964111	56964111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tccggagatcttcaggtaaaTccacatcatctccagccatc	6	14	4	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr18:56964111T>G	ENST00000299721.3	-	3	488	c.302A>C	c.(301-303)gAt>gCt	p.D101A	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	101					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D101A(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTCAGGTAAATCCACATCATC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											90	82	84					18																	56964111		2203	4300	6503	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.302A>C	18.37:g.56964111T>G	ENSP00000299721:p.Asp101Ala		F1T0L6	Missense_Mutation	SNP	pfam_Synaphin	p.D101A	ENST00000299721.3	37	c.302	CCDS11973.1	18	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651849	0.47362	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.044822	0.85682	D	0.000000	T	0.55465	0.1922	L	0.56769	1.78	0.80722	D	1	B	0.31705	0.336	B	0.35770	0.21	T	0.57447	-0.7810	9	0.48119	T	0.1	-6.7827	11.0027	0.47616	0.0:0.0743:0.0:0.9257	.	101	Q7Z7G2	CPLX4_HUMAN	A	101	.	ENSP00000299721:D101A	D	-	2	0	CPLX4	55115091	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	4.544000	0.60691	2.144000	0.66660	0.459000	0.35465	GAT	CPLX4	-	pfam_Synaphin		0.358	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX4	HGNC	protein_coding	OTTHUMT00000256127.1	T	NM_181654		56964111	-1	no_errors	ENST00000299721	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56964111	T	G	56964111	3	3	1	1	0	0	0	0	1	0	0	0	3812	1435	50	5	184	5	CPLX4	18	56964111	Missense_Mutation	SNP	T	TCGA-BI-A0VR-01A-11D-A10S-08	56383544	56964111	21113137	88	88										
TNFRSF11A	8792	genome.wustl.edu	37	chr18	60017106	60017106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gtatgtctgccctgtggcccGgatgaatacttggatagctg	13	9	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr18:60017106G>A	ENST00000586569.1	+	3	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_ENST00000269485.7_Silent_p.P73P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	73					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.P73P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											192	182	185					18																	60017106		2203	4300	6503	SO:0001819	synonymous_variant	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.219G>A	18.37:g.60017106G>A			I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11	p.P73	ENST00000586569.1	37	c.219	CCDS11980.1	18																																																																																			TNFRSF11A	-	smart_TNFR/NGFR_Cys_rich_reg		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11A	HGNC	protein_coding	OTTHUMT00000256186.2	G			60017106	1	no_errors	ENST00000586569	ensembl	human	known	70_37	silent	SNP	0.483	A	A	60017106	G	A	60017106	2	1	1	1	0	0	0	0	0	0	0	1	16314	1103	39	2		2	TNFRSF11A	18	60017106	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	3052995	60017106	18060142	89	89										
PCSK4	54760	genome.wustl.edu	37	chr19	1487169	1487169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	accacgccggaaggcctcgcGggtgaggatgccggggccgt	18	13	0	1	rs527983571		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:1487169G>A	ENST00000300954.5	-	7	887	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'Flank	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4									p.R276C(1)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCTCGCGGGTGAGGATG	0.721													G|||	1	0.000199681	8e-04	0	5008	,	,		13729	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											18	21	20					19																	1487169		2196	4293	6489	SO:0001583	missense	54760			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.826C>T	19.37:g.1487169G>A	ENSP00000300954:p.Arg276Cys			Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.R276C	ENST00000300954.5	37	c.826	CCDS12069.2	19	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012939	0.54468	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.88046	-2.33	3.63	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.265160	0.05858	U	0.622503	D	0.91965	0.7455	M	0.86028	2.79	0.09310	N	1	D;D	0.61080	0.989;0.981	P;P	0.56788	0.671;0.806	T	0.78628	-0.2130	10	0.87932	D	0	.	6.4075	0.21672	0.0:0.3266:0.4932:0.1802	.	276;88	Q6UW60;B3KQ28	PCSK4_HUMAN;.	C	276;88	ENSP00000300954:R276C	ENSP00000300954:R276C	R	-	1	0	PCSK4	1438169	0.002000	0.14202	0.604000	0.28916	0.793000	0.44817	1.337000	0.33862	1.742000	0.51746	0.491000	0.48974	CGC	PCSK4	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.721	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	G	NM_017573		1487169	-1	no_errors	ENST00000300954	ensembl	human	known	70_37	missense	SNP	0.043	A	A	1487169	G	A	1487169	3	1	1	1	0	0	0	0	1	0	0	0	11626	1116	39	2	1477	2	PCSK4	19	1487169	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		1487169	57641814	90	90										
FBXW9	84261	genome.wustl.edu	37	chr19	12800192	12800192	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gggcaggaccttaccctattGagcccattgtcatgccttcg	10	13	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:12800192G>C	ENST00000380339.3	-	9	1422	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000393261.3_Silent_p.L432L|FBXW9_ENST00000544494.1_Silent_p.L170L|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Silent_p.L452L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	462					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.L432L(1)|p.S117*(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTACCCTATTGAGCCCATTGT	0.622																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	cervix(2)											92	80	84					19																	12800192		2203	4300	6503	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1386C>G	19.37:g.12800192G>C			B3KVP7|Q9BT89	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L462	ENST00000380339.3	37	c.1386		19																																																																																			FBXW9	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		G	NM_032301		12800192	-1	no_errors	ENST00000380339	ensembl	human	known	70_37	silent	SNP	0.182	C	C	12800192	G	C	12800192	2	2	1	1	0	0	0	0	0	0	0	1	5789	1277	45	1		1	FBXW9	19	12800192	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	11313023	12800192	46328791	91	91										
F2RL3	9002	genome.wustl.edu	37	chr19	17001392	17001392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	caaggcctctgcggaaggggGcagccggggcatgggcaccc	18	13	1	0	rs372809419		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:17001392G>A	ENST00000248076.3	+	2	1448	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	373					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.G373D(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCGGAAGGGGGCAGCCGGGGC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											12	12	12					19																	17001392		2194	4290	6484	SO:0001583	missense	9002			AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1118G>A	19.37:g.17001392G>A	ENSP00000248076:p.Gly373Asp		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.G373D	ENST00000248076.3	37	c.1118	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382798	0.25031	.	.	ENSG00000127533	ENST00000248076	T	0.56941	0.43	3.99	-1.82	0.07857	.	1.471100	0.04920	U	0.454737	T	0.33731	0.0873	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.18147	-1.0346	10	0.34782	T	0.22	.	1.6615	0.02792	0.1124:0.2974:0.2469:0.3433	.	373	Q96RI0	PAR4_HUMAN	D	373	ENSP00000248076:G373D	ENSP00000248076:G373D	G	+	2	0	F2RL3	16862392	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.640000	0.05440	0.159000	0.19401	0.313000	0.20887	GGC	F2RL3	-	prints_Prot_act_rcpt_4		0.642	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1	G			17001392	1	no_errors	ENST00000248076	ensembl	human	known	70_37	missense	SNP	0.000	A	A	17001392	G	A	17001392	3	1	1	1	0	0	0	0	1	0	0	0	5358	1203	42	4	1124	4	F2RL3	19	17001392	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	4201200	17001392	42127591	92	92										
NFKBID	84807	genome.wustl.edu	37	chr19	36381329	36381329	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gggcagctccagcagcagctGaaccagagtggggttggcag	17	10	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:36381329G>A	ENST00000396901.1	-	10	1243	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	NFKBID_ENST00000352614.2_Nonsense_Mutation_p.Q376*|NFKBID_ENST00000340950.2_Nonsense_Mutation_p.Q61*|NFKBID_ENST00000606253.1_Nonsense_Mutation_p.Q224*	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	224					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)		p.Q224*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						AGCAGCAGCTGAACCAGAGTG	0.612																																																	1	Substitution - Nonsense(1)	cervix(1)											71	76	74					19																	36381329		2021	4174	6195	SO:0001587	stop_gained	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.670C>T	19.37:g.36381329G>A	ENSP00000380109:p.Gln224*		Q8NI39|Q9BRG9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q376*	ENST00000396901.1	37	c.1126	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.526305	0.96431	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	.	.	.	4.77	3.72	0.42706	.	0.416407	0.25756	N	0.028510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	10.1565	0.42825	0.0:0.0:0.6377:0.3623	.	.	.	.	X	376;224;61	.	ENSP00000343093:Q61X	Q	-	1	0	NFKBID	41073169	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	2.816000	0.48026	0.967000	0.38186	0.462000	0.41574	CAG	NFKBID	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.612	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	G	NM_032721		36381329	-1	no_errors	ENST00000352614	ensembl	human	known	70_37	nonsense	SNP	0.982	A	A	36381329	G	A	36381329	4	1	1	1	0	0	0	0	0	1	0	0	10403	1299	45	1	283	1	NFKBID	19	36381329	Nonsense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	19379937	36381329	22747654	93	93										
SUPT5H	6829	genome.wustl.edu	37	chr19	39965349	39965349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggacagacaggtgtcatccgCagtgtcacggtacgtggggc	16	10	2	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:39965349C>T	ENST00000599117.1	+	29	3382	c.3015C>T	c.(3013-3015)cgC>cgT	p.R1005R	SUPT5H_ENST00000402194.2_Silent_p.R1001R|SUPT5H_ENST00000598725.1_Silent_p.R1005R|SUPT5H_ENST00000432763.2_Silent_p.R1005R|SUPT5H_ENST00000359191.6_Silent_p.R1001R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1005					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R1005R(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTGTCATCCGCAGTGTCACGG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											51	37	42					19																	39965349		2203	4300	6503	SO:0001819	synonymous_variant	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.3015C>T	19.37:g.39965349C>T			O43279|Q59G52|Q99639	Silent	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.R1005	ENST00000599117.1	37	c.3015	CCDS12536.1	19																																																																																			SUPT5H	-	pirsf_TF_Spt5		0.597	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	C	NM_003169		39965349	1	no_errors	ENST00000432763	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39965349	C	T	39965349	2	4	1	1	0	0	0	0	0	0	0	1	15429	697	25	4		4	SUPT5H	19	39965349	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	3584020	39965349	19163634	94	94										
KIR2DL3	3804	genome.wustl.edu	37	chr19	55263156	55263156	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	tcagtggtcatcatcctcttCatcctcctcctcttctttct	3	16	8	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr19:55263156C>T	ENST00000342376.3	+	6	802	c.771C>T	c.(769-771)ttC>ttT	p.F257F	KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	257					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.F257F(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tcatcctcttcatcctcctcc	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											161	134	144					19																	55263156		1417	2565	3982	SO:0001819	synonymous_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.771C>T	19.37:g.55263156C>T			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.F257	ENST00000342376.3	37	c.771	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL		0.498	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	C			55263156	1	no_errors	ENST00000342376	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55263156	C	T	55263156	2	4	1	1	0	0	0	0	0	0	0	1	8337	825	29	1		1	KIR2DL3	19	55263156	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	15297807	55263156	3865827	95	95										
CDH4	1002	genome.wustl.edu	37	chr20	60511902	60511902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggctccgtcagctccctgaaCtcatccagttccggggacca	10	16	2	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr20:60511902C>T	ENST00000360469.5	+	16	2740	c.2652C>T	c.(2650-2652)aaC>aaT	p.N884N	CDH4_ENST00000543233.1_Silent_p.N810N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	884	Ser-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N884N(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCCTGAACTCATCCAGTT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											65	55	59					20																	60511902		2203	4300	6503	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2652C>T	20.37:g.60511902C>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.N884	ENST00000360469.5	37	c.2652	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin_cytoplasmic-dom		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	C	NM_001794		60511902	1	no_errors	ENST00000360469	ensembl	human	known	70_37	silent	SNP	1.000	T	T	60511902	C	T	60511902	2	4	1	1	0	0	0	0	0	0	0	1	3117	564	20	4		4	CDH4	20	60511902	Silent	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08		60511902	2513618	96	96										
IFNAR1	3454	genome.wustl.edu	37	chr21	34721581	34721581	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ggtctgaagagataaagtttGatactgaaatacaaggtaag	11	3	1	4			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr21:34721581G>C	ENST00000270139.3	+	7	1125	c.973G>C	c.(973-975)Gat>Cat	p.D325H	IFNAR1_ENST00000416947.2_Missense_Mutation_p.D256H|IFNAR1_ENST00000442357.2_Missense_Mutation_p.D325H	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	325	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.D325H(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	GATAAAGTTTGATACTGAAAT	0.323																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												1	Substitution - Missense(1)	cervix(1)											82	82	82					21																	34721581		2203	4300	6503	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.973G>C	21.37:g.34721581G>C	ENSP00000270139:p.Asp325His		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.D325H	ENST00000270139.3	37	c.973	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468774	0.43839	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.31769	1.48;1.48;1.48	5.56	-1.28	0.09318	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.008760	0.07956	N	0.981622	T	0.43964	0.1271	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.33420	-0.9869	10	0.35671	T	0.21	-1.2277	1.0703	0.01619	0.3818:0.1492:0.317:0.152	.	325	P17181	INAR1_HUMAN	H	256;325;325	ENSP00000395606:D256H;ENSP00000270139:D325H;ENSP00000407406:D325H	ENSP00000270139:D325H	D	+	1	0	IFNAR1	33643451	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.228000	0.09114	-0.192000	0.10432	0.655000	0.94253	GAT	IFNAR1	-	superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1		0.323	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	HGNC	protein_coding	OTTHUMT00000139823.4	G			34721581	1	no_errors	ENST00000270139	ensembl	human	known	70_37	missense	SNP	0.000	C	C	34721581	G	C	34721581	3	2	1	1	0	0	0	0	1	0	0	0	7564	1290	45	1	999	1	IFNAR1	21	34721581	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		34721581	13408314	97	97										
ARVCF	421	genome.wustl.edu	37	chr22	19965082	19965082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cacgtggtaggacaggttccGcatgatgcacacgcagttct	12	11	1	1			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr22:19965082G>A	ENST00000263207.3	-	9	2017	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ARVCF_ENST00000401994.1_Missense_Mutation_p.R513W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R513W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R576W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R513W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	576					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R576W(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GACAGGTTCCGCATGATGCAC	0.682																																																	1	Substitution - Missense(1)	cervix(1)											50	54	52					22																	19965082		2203	4300	6503	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1726C>T	22.37:g.19965082G>A	ENSP00000263207:p.Arg576Trp		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R576W	ENST00000263207.3	37	c.1726	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014142	0.75161	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93780	0.7083	9	.	.	.	-6.0243	11.9785	0.53107	0.0:0.0:0.7881:0.2119	.	576;98	O00192;E7EV58	ARVC_HUMAN;.	W	576;513;513;513;576	ENSP00000263207:R576W;ENSP00000342042:R513W;ENSP00000384341:R513W;ENSP00000384732:R513W;ENSP00000385444:R576W	.	R	-	1	2	ARVCF	18345082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.588000	0.23924	2.549000	0.85964	0.563000	0.77884	CGG	ARVCF	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	G	NM_001670		19965082	-1	no_errors	ENST00000263207	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19965082	G	A	19965082	3	1	1	1	0	0	0	0	1	0	0	0	1004	1086	38	2	1206	2	ARVCF	22	19965082	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		19965082	31339484	98	98										
TBC1D10A	83874	genome.wustl.edu	37	chr22	30688746	30688746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	catgcagcctgggcggggagCggcactgcagctcaccccgg	16	15	1	0	rs201955996		TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chr22:30688746C>T	ENST00000215790.7	-	9	1309	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R389H|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R294H	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	382					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.R382H(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGCGGGGAGCGGCACTGCAG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											28	32	30					22																	30688746		2203	4300	6503	SO:0001583	missense	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1145G>A	22.37:g.30688746C>T	ENSP00000215790:p.Arg382His		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R382H	ENST00000215790.7	37	c.1145	CCDS13874.1	22	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208377	0.39003	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.05580	3.43;3.43;3.42	5.51	-1.97	0.07503	.	0.616289	0.17450	N	0.173817	T	0.03305	0.0096	L	0.28115	0.83	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.36962	-0.9726	10	0.46703	T	0.11	.	0.8741	0.01220	0.1489:0.2239:0.292:0.3352	.	382;389;382	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	H	382;389;294	ENSP00000215790:R382H;ENSP00000384996:R389H;ENSP00000385050:R294H	ENSP00000215790:R382H	R	-	2	0	TBC1D10A	29018746	0.000000	0.05858	0.025000	0.17156	0.780000	0.44128	0.049000	0.14099	0.087000	0.17167	0.561000	0.74099	CGC	TBC1D10A	-	NULL		0.647	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	C	NM_031937		30688746	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	missense	SNP	0.034	T	T	30688746	C	T	30688746	3	4	1	1	0	0	0	0	1	0	0	0	15628	768	27	2	385	2	TBC1D10A	22	30688746	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	10723664	30688746	20615820	99	99										
DDX3X	1654	genome.wustl.edu	37	chrX	41202541	41202541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gttatactcgcccaactccaGtgcaaaagcatgctattcct	6	13	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:41202541G>T	ENST00000399959.2	+	7	1471	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.V250L|DDX3X_ENST00000457138.2_Missense_Mutation_p.V190L|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	206	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.V206L(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCCAACTCCAGTGCAAAAGCA	0.383										HNSCC(61;0.18)																																							1	Substitution - Missense(1)	cervix(1)											79	72	74					X																	41202541		2182	4293	6475	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.616G>T	X.37:g.41202541G>T	ENSP00000382840:p.Val206Leu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V206L	ENST00000399959.2	37	c.616	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.369906	0.95900	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.45276	2.39;2.39;0.9	5.89	5.89	0.94794	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.971;0.971;1.0;1.0	D;D;D;D;D	0.79784	0.992;0.931;0.931;0.993;0.993	T	0.78605	-0.2139	10	0.87932	D	0	-0.2404	19.1867	0.93647	0.0:0.0:1.0:0.0	.	206;190;206;218;206	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	L	206;190;250	ENSP00000382840:V206L;ENSP00000392494:V190L;ENSP00000439799:V250L	ENSP00000382840:V206L	V	+	1	0	DDX3X	41087485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.483000	0.83821	0.600000	0.82982	GTG	DDX3X	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.383	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	G	NM_024005		41202541	1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41202541	G	T	41202541	3	4	1	1	0	0	0	0	1	0	0	0	4363	1029	36	4	642	4	DDX3X	23	41202541	Missense_Mutation	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08		41202541	114068019	100	100										
PORCN	64840	genome.wustl.edu	37	chrX	48374529	48374529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	cagactgttcgcaccagcatCgcttggtgagggttcagcct	12	12	1	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:48374529C>T	ENST00000326194.6	+	12	1211	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	PORCN_ENST00000361988.3_Missense_Mutation_p.R379C|PORCN_ENST00000537758.1_Missense_Mutation_p.R390C|PORCN_ENST00000359882.4_Missense_Mutation_p.R384C|PORCN_ENST00000355961.4_Missense_Mutation_p.R385C|PORCN_ENST00000355092.3_Missense_Mutation_p.R384C|PORCN_ENST00000367574.4_Missense_Mutation_p.R308C	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	390					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.R390C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCACCAGCATCGCTTGGTGAG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											58	50	53					X																	48374529		2203	4300	6503	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1168C>T	X.37:g.48374529C>T	ENSP00000322304:p.Arg390Cys		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R390C	ENST00000326194.6	37	c.1168	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097944	0.76870	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.31	5.31	0.75309	.	0.058005	0.64402	D	0.000002	T	0.75049	0.3797	L	0.48642	1.525	0.48632	D	0.999685	D;D;D;D;D	0.76494	0.999;0.998;0.991;0.999;0.999	P;P;P;P;P	0.61658	0.854;0.892;0.892;0.806;0.854	T	0.74259	-0.3723	10	0.39692	T	0.17	-10.5884	10.543	0.45043	0.1928:0.8072:0.0:0.0	.	384;390;308;379;385	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	C	384;390;308;385;379;390;384	ENSP00000352946:R384C;ENSP00000446401:R390C;ENSP00000356546:R308C;ENSP00000348233:R385C;ENSP00000354978:R379C;ENSP00000322304:R390C;ENSP00000347207:R384C	ENSP00000322304:R390C	R	+	1	0	PORCN	48259473	.	.	1.000000	0.80357	0.995000	0.86356	.	.	2.200000	0.70718	0.529000	0.55759	CGC	PORCN	-	pfam_MBOAT_fam		0.572	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	C	NM_022825		48374529	1	no_errors	ENST00000326194	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48374529	C	T	48374529	3	4	1	1	0	0	0	0	1	0	0	0	12282	884	31	1	1214	1	PORCN	23	48374529	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	7171988	48374529	106896031	101	101										
GPKOW	27238	genome.wustl.edu	37	chrX	48976099	48976099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	ccctcgccaggtttccagccCatgccccgcagcatggccag	10	19	0	0			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:48976099C>T	ENST00000156109.5	-	4	603	c.525G>A	c.(523-525)atG>atA	p.M175I		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	175	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.M175I(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTTTCCAGCCCATGCCCCGCA	0.602																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											57	46	50					X																	48976099		2203	4300	6503	SO:0001583	missense	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.525G>A	X.37:g.48976099C>T	ENSP00000156109:p.Met175Ile		Q59EK5|Q9BQA8	Missense_Mutation	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.M175I	ENST00000156109.5	37	c.525	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720582	0.89205	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.16	5.16	0.70880	D111/G-patch (2);	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	M	0.92367	3.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	D	0.89439	0.3722	9	0.87932	D	0	.	16.6769	0.85281	0.0:1.0:0.0:0.0	.	175	Q92917	GPKOW_HUMAN	I	175	.	ENSP00000156109:M175I	M	-	3	0	GPKOW	48863043	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.902000	0.69869	2.283000	0.76528	0.509000	0.49947	ATG	GPKOW	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.602	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698		48976099	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48976099	C	T	48976099	3	4	1	1	0	0	0	0	1	0	0	0	6632	594	21	4	937	4	GPKOW	23	48976099	Missense_Mutation	SNP	C	TCGA-BI-A0VR-01A-11D-A10S-08	601570	48976099	106294461	102	102										
GAB3	139716	genome.wustl.edu	37	chrX	153941667	153941667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.339805825242718	35	3.28052527883057e-10	3.2430223786774	5.69845360824742	2.64776632302405	0.0221831397501416	0.0770502029320387	24	gcagaggatggctgcagggaGgagggcgtgtaagagaggct	21	5	0	2			TCGA-BI-A0VR-01A-11D-A10S-08	TCGA-BI-A0VR-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc62866c-0dc0-4ef5-bc63-fee1e943a99f	e717369f-73df-46ca-a7f2-749b84b96616	g.chrX:153941667G>A	ENST00000369575.3	-	3	439	c.408C>T	c.(406-408)tcC>tcT	p.S136S	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.S137S	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	136					macrophage differentiation (GO:0030225)			p.S136S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGCAGGGAGGAGGGCGTGT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											86	75	79					X																	153941667		2203	4300	6503	SO:0001819	synonymous_variant	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.408C>T	X.37:g.153941667G>A			A6NHF8|E9PB44	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S137	ENST00000369575.3	37	c.411	CCDS14760.1	X																																																																																			GAB3	-	NULL		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	G	NM_001081573		153941667	-1	no_errors	ENST00000424127	ensembl	human	known	70_37	silent	SNP	0.989	A	A	153941667	G	A	153941667	2	1	1	1	0	0	0	0	0	0	0	1	6168	987	35	4		4	GAB3	23	153941667	Silent	SNP	G	TCGA-BI-A0VR-01A-11D-A10S-08	104965568	153941667	1328893	103	103										
SLC9A1	6548	genome.wustl.edu	37	chr1	27426904	27426904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agctggggctgtcactgggcGcgggggtgaagacatcgtcg	19	9	1	2	rs556347900		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:27426904G>A	ENST00000263980.3	-	12	2917	c.2342C>T	c.(2341-2343)gCg>gTg	p.A781V	SLC9A1_ENST00000545949.1_Missense_Mutation_p.A442V|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	781					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.A781V(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GTCACTGGGCGCGGGGGTGAA	0.647													g|||	1	0.000199681	8e-04	0	5008	,	,		14169	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											82	84	83					1																	27426904		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2342C>T	1.37:g.27426904G>A	ENSP00000263980:p.Ala781Val		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A781V	ENST00000263980.3	37	c.2342	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.761969	0.15914	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.46819	0.86;1.44	4.06	-0.609	0.11608	.	0.788243	0.11751	N	0.533006	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	P	0.35944	0.529	B	0.20577	0.03	T	0.09357	-1.0678	10	0.30078	T	0.28	.	8.9778	0.35946	0.0:0.4652:0.4393:0.0954	.	781	P19634	SL9A1_HUMAN	V	781;285;442;202	ENSP00000263980:A781V;ENSP00000445520:A442V	ENSP00000263980:A781V	A	-	2	0	SLC9A1	27299491	0.000000	0.05858	0.038000	0.18304	0.245000	0.25701	-0.100000	0.10990	0.039000	0.15632	-0.241000	0.12123	GCG	SLC9A1	-	NULL		0.647	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27426904	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	missense	SNP	0.002	A	A	27426904	G	A	27426904	3	1	2	1	0	0	0	0	1	0	0	0	14739	1087	38	2	109	2	SLC9A1	1	27426904	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08		27426904	221823717	1	104										
CELSR2	1952	genome.wustl.edu	37	chr1	109801411	109801411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gacggccatctcggcacagcGcgtgctgcccttcgacgaca	12	16	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:109801411G>A	ENST00000271332.3	+	2	3729	c.3668G>A	c.(3667-3669)cGc>cAc	p.R1223H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1223					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1223H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGGCACAGCGCGTGCTGCCC	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - Missense(1)	cervix(1)											30	26	27					1																	109801411		2203	4299	6502	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3668G>A	1.37:g.109801411G>A	ENSP00000271332:p.Arg1223His		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1223H	ENST00000271332.3	37	c.3668	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883305	0.51908	.	.	ENSG00000143126	ENST00000271332	T	0.68479	-0.33	4.43	4.43	0.53597	.	.	.	.	.	T	0.44540	0.1298	N	0.11560	0.145	0.37837	D	0.92891	D	0.63046	0.992	P	0.51135	0.66	T	0.53034	-0.8495	9	0.48119	T	0.1	.	12.1261	0.53917	0.087:0.0:0.913:0.0	.	1223	Q9HCU4	CELR2_HUMAN	H	1223	ENSP00000271332:R1223H	ENSP00000271332:R1223H	R	+	2	0	CELSR2	109602934	0.958000	0.32768	1.000000	0.80357	0.982000	0.71751	2.112000	0.41892	2.450000	0.82876	0.462000	0.41574	CGC	CELSR2	-	NULL		0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109801411	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109801411	G	A	109801411	3	1	2	1	0	0	0	0	1	0	0	0	3227	1087	38	2	3674	2	CELSR2	1	109801411	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	82374507	109801411	139449210	2	105										
KCNC4	3749	genome.wustl.edu	37	chr1	110766382	110766382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gcagaagctgcccaagaaacGgaagaagcacgtgccacggc	13	12	0	3	rs140378578		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:110766382G>A	ENST00000369787.3	+	2	1502	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	KCNC4_ENST00000413138.3_Missense_Mutation_p.R492Q|KCNC4_ENST00000438661.2_Missense_Mutation_p.R492Q|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	492					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R492Q(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCAAGAAACGGAAGAAGCAC	0.617																																																	2	Substitution - Missense(2)	cervix(2)						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	94	94	94		1475,1475	4.9	0.2	1	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNC4	NM_001039574.2,NM_004978.4	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	492/627,492/636	110766382	1,13005	2203	4300	6503	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1475G>A	1.37:g.110766382G>A	ENSP00000358802:p.Arg492Gln		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.R492Q	ENST00000369787.3	37	c.1475	CCDS821.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947415	0.53186	0.0	1.16E-4	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97731	-4.51;-4.51;-4.5	4.89	4.89	0.63831	.	0.050155	0.85682	D	0.000000	D	0.95207	0.8446	L	0.55990	1.75	0.46631	D	0.999131	B;B;P	0.50272	0.146;0.136;0.933	B;B;P	0.48334	0.03;0.04;0.574	D	0.94680	0.7864	10	0.56958	D	0.05	.	6.6964	0.23201	0.2275:0.0:0.7725:0.0	.	492;492;492	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	Q	492	ENSP00000358802:R492Q;ENSP00000388029:R492Q;ENSP00000393655:R492Q	ENSP00000358802:R492Q	R	+	2	0	KCNC4	110567905	1.000000	0.71417	0.212000	0.23672	0.948000	0.59901	7.329000	0.79170	2.422000	0.82143	0.462000	0.41574	CGG	KCNC4	-	prints_K_chnl_volt-dep_Kv3		0.617	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	HGNC	protein_coding	OTTHUMT00000052146.2	G	NM_001039574		110766382	1	no_errors	ENST00000369787	ensembl	human	known	70_37	missense	SNP	0.993	A	A	110766382	G	A	110766382	3	1	2	1	0	0	0	0	1	0	0	0	8037	1116	39	2	1481	2	KCNC4	1	110766382	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	964971	110766382	138484239	3	106										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144864276	144864276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccagctcttgaaggtgggatCgagaggacagcagagcctcc	14	11	1	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:144864276C>T	ENST00000369354.3	-	36	6008	c.5819G>A	c.(5818-5820)cGa>cAa	p.R1940Q	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R2076Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R2025Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1834Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1940Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1940					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R1940Q(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGTGGGATCGAGAGGACAG	0.527			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	2	Substitution - Missense(2)	cervix(2)											122	131	128					1																	144864276		2203	4298	6501	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5819G>A	1.37:g.144864276C>T	ENSP00000358360:p.Arg1940Gln		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R1940Q	ENST00000369354.3	37	c.5819	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.985|7.985	0.752107|0.752107	0.15778|0.15778	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01725	.|4.67;4.74;4.74;4.75;4.75	4.52|4.52	-5.6|-5.6	0.02497|0.02497	.|.	.|.	.|.	.|.	.|.	T|T	0.00784|0.00784	0.0026|0.0026	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17465	.|0.012;0.022	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.33854|0.33854	-0.9852|-0.9852	5|9	.|0.26408	.|T	.|0.33	.|.	12.3919|12.3919	0.55362|0.55362	0.0:0.4016:0.0:0.5984|0.0:0.4016:0.0:0.5984	.|.	.|1834;1940	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	N|Q	97|1834;1940;1940;2025;2076	.|ENSP00000327209:R1834Q;ENSP00000358360:R1940Q;ENSP00000358363:R1940Q;ENSP00000435654:R2025Q;ENSP00000358366:R2076Q	.|ENSP00000327209:R1834Q	D|R	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143575633|143575633	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.320000|0.320000	0.28249|0.28249	-0.343000|-0.343000	0.07791|0.07791	-1.184000|-1.184000	0.02720|0.02720	-0.142000|-0.142000	0.14014|0.14014	GAT|CGA	PDE4DIP	-	NULL		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144864276	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.000	T	T	144864276	C	T	144864276	3	4	2	1	0	0	0	0	1	0	0	0	11667	884	31	1	1257	1	PDE4DIP	1	144864276	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	34097894	144864276	104386345	4	107										
ACP6	51205	genome.wustl.edu	37	chr1	147120085	147120085	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gctgcacaaaccactccttaGattccaggtgctggtaaagt	9	11	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:147120085G>A	ENST00000369238.6	-	9	1553	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	369					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.S369F(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CCACTCCTTAGATTCCAGGTG	0.527																																																	1	Substitution - Missense(1)	cervix(1)											132	117	122					1																	147120085		2203	4300	6503	SO:0001583	missense	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1106C>T	1.37:g.147120085G>A	ENSP00000358241:p.Ser369Phe		Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S369F	ENST00000369238.6	37	c.1106	CCDS928.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279999	0.80692	.	.	ENSG00000162836	ENST00000369238	T	0.46451	0.87	4.84	4.84	0.62591	.	0.107471	0.64402	D	0.000004	T	0.57888	0.2084	M	0.78637	2.42	0.80722	D	1	D	0.58970	0.984	P	0.62649	0.905	T	0.65030	-0.6267	10	0.72032	D	0.01	.	17.938	0.89018	0.0:0.0:1.0:0.0	.	369	Q9NPH0	PPA6_HUMAN	F	369	ENSP00000358241:S369F	ENSP00000358241:S369F	S	-	2	0	ACP6	145586709	1.000000	0.71417	0.371000	0.25978	0.978000	0.69477	8.326000	0.90010	2.226000	0.72624	0.514000	0.50259	TCT	ACP6	-	pfam_His_Pase_superF_clade-2		0.527	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP6	HGNC	protein_coding	OTTHUMT00000039420.2	G	NM_016361		147120085	-1	no_errors	ENST00000369238	ensembl	human	known	70_37	missense	SNP	0.997	A	A	147120085	G	A	147120085	3	1	2	1	0	0	0	0	1	0	0	0	165	942	33	1	188	1	ACP6	1	147120085	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	2255809	147120085	102130536	5	108										
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150525407	150525407	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	actctcttcagacacctacaGaggagggccagggccccgaa	11	14	2	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:150525407G>A	ENST00000369038.2	+	3	313	c.112G>A	c.(112-114)Gag>Aag	p.E38K	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.E38K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E38K|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E38K			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	38					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.E38K(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GACACCTACAGAGGAGGGCCA	0.587																																																	1	Substitution - Missense(1)	cervix(1)											37	46	43					1																	150525407		2180	4263	6443	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.112G>A	1.37:g.150525407G>A	ENSP00000358034:p.Glu38Lys		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.E38K	ENST00000369038.2	37	c.112	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720958	0.68959	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.63417	0.06;-0.04;0.24;-0.04	4.63	4.63	0.57726	.	.	.	.	.	T	0.55000	0.1893	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.997	P;D;P;D	0.64042	0.836;0.915;0.824;0.921	T	0.53401	-0.8444	9	0.72032	D	0.01	.	12.9585	0.58444	0.0:0.0:1.0:0.0	.	38;38;38;38	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	K	38	ENSP00000358037:E38K;ENSP00000271643:E38K;ENSP00000358035:E38K;ENSP00000358034:E38K	ENSP00000271643:E38K	E	+	1	0	ADAMTSL4	148792031	1.000000	0.71417	0.655000	0.29622	0.400000	0.30750	4.741000	0.62095	2.115000	0.64714	0.561000	0.74099	GAG	ADAMTSL4	-	NULL		0.587	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	G	NM_019032		150525407	1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.107	A	A	150525407	G	A	150525407	3	1	2	1	0	0	0	0	1	0	0	0	277	943	33	1	122	1	ADAMTSL4	1	150525407	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	3405322	150525407	98725214	6	109										
OR6K3	391114	genome.wustl.edu	37	chr1	158687406	158687406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tttggttgggcccacagaaaGgcagtgtggaaatcatcaca	12	8	2	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:158687406G>A	ENST00000368146.1	-	1	547	c.548C>T	c.(547-549)cCt>cTt	p.P183L	OR6K3_ENST00000368145.1_Missense_Mutation_p.P167L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCCACAGAAAGGCAGTGTGGA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											130	126	127					1																	158687406		2203	4300	6503	SO:0001583	missense	391114			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.548C>T	1.37:g.158687406G>A	ENSP00000357128:p.Pro183Leu		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P183L	ENST00000368146.1	37	c.548		1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266473	0.59540	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00158	8.65;8.65	4.04	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.78049	2.395	0.09310	N	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.20840	-1.0263	9	0.66056	D	0.02	.	11.1112	0.48235	0.0947:0.0:0.9053:0.0	.	183	Q8NGY3	OR6K3_HUMAN	L	167;183	ENSP00000357127:P167L;ENSP00000357128:P183L	ENSP00000357127:P167L	P	-	2	0	OR6K3	156954030	0.015000	0.18098	0.007000	0.13788	0.937000	0.57800	1.136000	0.31467	1.022000	0.39626	0.411000	0.27672	CCT	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		G			158687406	-1	no_errors	ENST00000368146	ensembl	human	known	70_37	missense	SNP	0.043	A	A	158687406	G	A	158687406	3	1	2	1	0	0	0	0	1	0	0	0	11227	1000	35	4	449	4	OR6K3	1	158687406	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	8161999	158687406	90563215	7	110										
ASPM	259266	genome.wustl.edu	37	chr1	197059457	197059457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	taacaacttgaagacttagtCgtatagctttaatttttgta	6	5	0	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:197059457C>T	ENST00000367409.4	-	24	9954	c.9698G>A	c.(9697-9699)cGa>cAa	p.R3233Q	ASPM_ENST00000294732.7_Missense_Mutation_p.R1648Q|ASPM_ENST00000367408.1_Missense_Mutation_p.R898Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3233	IQ 39. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R3233Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGACTTAGTCGTATAGCTTT	0.328																																																	1	Substitution - Missense(1)	cervix(1)											86	82	83					1																	197059457		2202	4300	6502	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9698G>A	1.37:g.197059457C>T	ENSP00000356379:p.Arg3233Gln		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R3233Q	ENST00000367409.4	37	c.9698	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.277075	0.95459	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.66099	-0.19;1.19;0.88	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000006	T	0.76335	0.3973	M	0.68593	2.085	0.29594	N	0.848187	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.972;0.921;0.975	T	0.69950	-0.5006	10	0.15499	T	0.54	.	19.4428	0.94827	0.0:1.0:0.0:0.0	.	1219;1648;3233	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	Q	3233;1648;898;1219	ENSP00000356379:R3233Q;ENSP00000294732:R1648Q;ENSP00000356378:R898Q	ENSP00000294732:R1648Q	R	-	2	0	ASPM	195326080	1.000000	0.71417	0.110000	0.21437	0.985000	0.73830	5.613000	0.67688	2.588000	0.87417	0.655000	0.94253	CGA	ASPM	-	superfamily_ARM-type_fold		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197059457	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.912	T	T	197059457	C	T	197059457	3	4	2	1	0	0	0	0	1	0	0	0	1057	884	31	1	755	1	ASPM	1	197059457	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	38372051	197059457	52191164	8	111										
ATP2B4	493	genome.wustl.edu	37	chr1	203672793	203672793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	actccagcaaagacccaagaCggagtggccctggaaatcca	10	13	0	2	rs145839216		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:203672793C>T	ENST00000357681.5	+	8	2074	c.951C>T	c.(949-951)gaC>gaT	p.D317D	ATP2B4_ENST00000341360.2_Silent_p.D317D|ATP2B4_ENST00000391954.2_Silent_p.D317D|ATP2B4_ENST00000367218.3_Silent_p.D317D|ATP2B4_ENST00000367219.3_Silent_p.D305D	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	317					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.D317D(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGACCCAAGACGGAGTGGCCC	0.522													C|||	1	0.000199681	0	0.0014	5008	,	,		19400	0		0	False		,,,				2504	0																2	Substitution - coding silent(2)	cervix(2)						C	,	3,4403	6.2+/-15.9	0,3,2200	105	102	103		951,951	-0.5	1	1	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ATP2B4	NM_001001396.2,NM_001684.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	317/1171,317/1206	203672793	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.951C>T	1.37:g.203672793C>T			B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D317	ENST00000357681.5	37	c.951	CCDS1440.1	1																																																																																			ATP2B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	C	NM_001001396		203672793	1	no_errors	ENST00000357681	ensembl	human	known	70_37	silent	SNP	0.997	T	T	203672793	C	T	203672793	2	4	2	1	0	0	0	0	0	0	0	1	1143	535	19	2		2	ATP2B4	1	203672793	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	6613336	203672793	45577828	9	112										
PIK3C2B	5287	genome.wustl.edu	37	chr1	204403616	204403616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gcccaggaagcggccaaaatCaatgtggaacatgtgaccag	12	10	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:204403616C>G	ENST00000367187.3	-	25	4193	c.3637G>C	c.(3637-3639)Gat>Cat	p.D1213H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D1185H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1213	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.D1213H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGGCCAAAATCAATGTGGAAC	0.537																																																	1	Substitution - Missense(1)	cervix(1)											85	65	72					1																	204403616		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3637G>C	1.37:g.204403616C>G	ENSP00000356155:p.Asp1213His		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.D1213H	ENST00000367187.3	37	c.3637	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674865	0.88445	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.95238	-3.65;-3.65	5.69	4.78	0.61160	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.048741	0.85682	D	0.000000	D	0.98451	0.9484	H	0.98833	4.345	0.58432	D	0.99999	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.934	D	0.99236	1.0883	10	0.87932	D	0	.	14.3184	0.66468	0.0:0.9278:0.0:0.0722	.	1185;1213	F5GWN5;O00750	.;P3C2B_HUMAN	H	1213;1185	ENSP00000356155:D1213H;ENSP00000400561:D1185H	ENSP00000356155:D1213H	D	-	1	0	PIK3C2B	202670239	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.718000	0.84743	1.414000	0.47017	0.563000	0.77884	GAT	PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.537	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204403616	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204403616	C	G	204403616	3	3	2	1	0	0	0	0	1	0	0	0	11934	826	29	1	1307	1	PIK3C2B	1	204403616	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	730823	204403616	44847005	10	113										
SCCPDH	51097	genome.wustl.edu	37	chr1	246927547	246927547	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cctttgccttctccttcacaGattgatgctgcctcattcac	5	15	4	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr1:246927547G>A	ENST00000366510.3	+	10	1366		c.e10-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)							lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTCCTTCACAGATTGATGCTG	0.403																																																	1	Unknown(1)	cervix(1)											121	109	113					1																	246927547		2203	4300	6503	SO:0001630	splice_region_variant	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.991-1G>A	1.37:g.246927547G>A			Q8TAR0|Q9Y363	Splice_Site	SNP	-	e10-1	ENST00000366510.3	37	c.991-1	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088001	0.36855	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6515	0.95815	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCCPDH	244994170	1.000000	0.71417	0.944000	0.38274	0.006000	0.05464	8.052000	0.89448	2.739000	0.93911	0.655000	0.94253	.	SCCPDH	-	-		0.403	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	G	NM_016002	Intron	246927547	1	no_errors	ENST00000366510	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	246927547	G	A	246927547	5	1	2	1	0	0	0	0	0	0	1	0	13915	956	33	1	1028	1	SCCPDH	1	246927547	Splice_Site	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	42523931	246927547	2323074	11	114										
EIF2B4	8890	genome.wustl.edu	37	chr2	27592363	27592363	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cgtttcttcttctgctgtttCttttccttccgaagctgcag	7	12	4	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:27592363C>G	ENST00000347454.4	-	3	300	c.129G>C	c.(127-129)aaG>aaC	p.K43N	AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000233575.2_5'Flank|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K43N|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K64N|EIF2B4_ENST00000493344.2_Missense_Mutation_p.K64N|SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000543024.1_5'Flank|SNX17_ENST00000537606.1_5'Flank	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	43					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.K64N(1)|p.K43N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCTGTTTCTTTTCCTTCC	0.498																																																	2	Substitution - Missense(2)	cervix(2)											232	194	207					2																	27592363		2203	4300	6503	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.129G>C	2.37:g.27592363C>G	ENSP00000233552:p.Lys43Asn		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	pfam_IF-2B-related	p.K43N	ENST00000347454.4	37	c.129	CCDS33164.1	2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233644	0.58886	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.87	1.88	0.25563	.	0.136806	0.64402	D	0.000004	D	0.84933	0.5582	M	0.61703	1.905	0.58432	D	0.999994	D;P;P;P;P	0.89917	1.0;0.857;0.857;0.777;0.915	D;B;B;B;P	0.87578	0.998;0.421;0.329;0.176;0.544	T	0.81835	-0.0750	10	0.40728	T	0.16	-2.7613	8.0727	0.30699	0.0:0.7029:0.0:0.2971	.	37;41;43;43;64	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	N	43;41;43;64;64	ENSP00000233552:K43N;ENSP00000394397:K43N;ENSP00000394869:K64N;ENSP00000429323:K64N	ENSP00000233552:K43N	K	-	3	2	EIF2B4	27445867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.228000	0.32588	0.659000	0.30945	0.561000	0.74099	AAG	EIF2B4	-	NULL		0.498	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2B4	HGNC	protein_coding	OTTHUMT00000324448.1	C			27592363	-1	no_errors	ENST00000347454	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27592363	C	G	27592363	3	3	2	1	0	0	0	0	1	0	0	0	5013	912	32	1	1486	1	EIF2B4	2	27592363	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		27592363	215607010	12	115										
FOSL2	2355	genome.wustl.edu	37	chr2	28635065	28635065	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gctggacaaggcccagcgctCtgtcatcaagcccatcagca	10	15	4	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:28635065C>G	ENST00000264716.4	+	4	1594	c.731C>G	c.(730-732)tCt>tGt	p.S244C	FOSL2_ENST00000545753.1_Missense_Mutation_p.S205C|FOSL2_ENST00000379619.1_Missense_Mutation_p.S236C	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	244					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S244C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCCCAGCGCTCTGTCATCAAG	0.662																																																	1	Substitution - Missense(1)	cervix(1)											36	34	35					2																	28635065		2203	4300	6503	SO:0001583	missense	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.731C>G	2.37:g.28635065C>G	ENSP00000264716:p.Ser244Cys		B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.S244C	ENST00000264716.4	37	c.731	CCDS1766.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958819	0.74016	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000545753	T;T;T	0.78707	-1.2;-0.21;-1.2	5.05	5.05	0.67936	.	0.053149	0.85682	D	0.000000	D	0.86564	0.5963	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	P	0.58577	0.841	D	0.87970	0.2736	10	0.62326	D	0.03	-18.6372	18.5671	0.91120	0.0:1.0:0.0:0.0	.	244	P15408	FOSL2_HUMAN	C	236;244;205	ENSP00000368939:S236C;ENSP00000264716:S244C;ENSP00000439303:S205C	ENSP00000264716:S244C	S	+	2	0	FOSL2	28488569	0.998000	0.40836	0.987000	0.45799	0.995000	0.86356	3.680000	0.54641	2.611000	0.88343	0.561000	0.74099	TCT	FOSL2	-	NULL		0.662	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL2	HGNC	protein_coding	OTTHUMT00000215116.2	C	NM_005253		28635065	1	no_errors	ENST00000264716	ensembl	human	known	70_37	missense	SNP	0.999	G	G	28635065	C	G	28635065	3	3	2	1	0	0	0	0	1	0	0	0	6006	913	32	1	745	1	FOSL2	2	28635065	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	1042702	28635065	214564308	13	116			1	1		2	2	17	C		6.460426e-05
FOSL2	2355	genome.wustl.edu	37	chr2	28635081	28635081	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cgctctgtcatcaagcccatCagcattgctgggggcttcta	10	13	5	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:28635081C>T	ENST00000264716.4	+	4	1610	c.747C>T	c.(745-747)atC>atT	p.I249I	FOSL2_ENST00000545753.1_Silent_p.I210I|FOSL2_ENST00000379619.1_Silent_p.I241I	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	249					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I249I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCAAGCCCATCAGCATTGCTG	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											41	38	39					2																	28635081		2203	4300	6503	SO:0001819	synonymous_variant	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.747C>T	2.37:g.28635081C>T			B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.I249	ENST00000264716.4	37	c.747	CCDS1766.1	2																																																																																			FOSL2	-	NULL		0.642	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL2	HGNC	protein_coding	OTTHUMT00000215116.2	C	NM_005253		28635081	1	no_errors	ENST00000264716	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28635081	C	T	28635081	2	4	2	1	0	0	0	0	0	0	0	1	6006	816	29	1		1	FOSL2	2	28635081	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	16	28635081	214564292	14	117			1	1		2	2	17	C		6.460426e-05
EPAS1	2034	genome.wustl.edu	37	chr2	46597010	46597010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccctgaggagctgcttggccGctcagcctatgaattctacc	10	14	2	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:46597010G>A	ENST00000263734.3	+	7	1334	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	275	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R275H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGCTTGGCCGCTCAGCCTAT	0.478																																																	1	Substitution - Missense(1)	cervix(1)											59	52	54					2																	46597010		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.824G>A	2.37:g.46597010G>A	ENSP00000263734:p.Arg275His		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.R275H	ENST00000263734.3	37	c.824	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946965	0.92593	.	.	ENSG00000116016	ENST00000263734	T	0.30714	1.52	5.65	5.65	0.86999	PAS fold-3 (1);PAS (3);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53056	-0.8492	10	0.59425	D	0.04	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	275	Q99814	EPAS1_HUMAN	H	275	ENSP00000263734:R275H	ENSP00000263734:R275H	R	+	2	0	EPAS1	46450514	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.736000	0.68597	2.659000	0.90383	0.655000	0.94253	CGC	EPAS1	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.478	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	G	NM_001430		46597010	1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46597010	G	A	46597010	3	1	2	1	0	0	0	0	1	0	0	0	5162	1087	38	2	850	2	EPAS1	2	46597010	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	17961929	46597010	196602363	15	118										
AAK1	22848	genome.wustl.edu	37	chr2	69754432	69754432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atatccggccttttgtcaggGtctggttccaacatataccc	8	12	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:69754432G>A	ENST00000409085.4	-	9	1267	c.891C>T	c.(889-891)gaC>gaT	p.D297D	AAK1_ENST00000409068.1_Silent_p.D297D|AAK1_ENST00000406297.3_Silent_p.D297D	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	297	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TTTTGTCAGGGTCTGGTTCCA	0.398																																																	0													70	64	66					2																	69754432		1845	4091	5936	SO:0001819	synonymous_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.891C>T	2.37:g.69754432G>A			Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D297	ENST00000409085.4	37	c.891	CCDS1893.2	2																																																																																			AAK1	-	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		0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69754432	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69754432	G	A	69754432	2	1	2	1	0	0	0	0	0	0	0	1	16	1252	44	4		4	AAK1	2	69754432	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	23157422	69754432	173444941	16	119										
TET3	200424	genome.wustl.edu	37	chr2	74320665	74320665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgtctacacaggtgaccaacGaggaaatagcgattgactgc	11	9	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:74320665G>A	ENST00000409262.3	+	7	2734	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	912					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.E189K(1)|p.E912K(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTGACCAACGAGGAAATAGC	0.617																																																	2	Substitution - Missense(2)	cervix(2)											56	61	59					2																	74320665		2067	4196	6263	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2734G>A	2.37:g.74320665G>A	ENSP00000386869:p.Glu912Lys		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.E912K	ENST00000409262.3	37	c.2734	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807878	0.90623	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14022	2.54	5.21	4.33	0.51752	.	0.051366	0.85682	D	0.000000	T	0.39809	0.1092	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41610	-0.9499	10	0.87932	D	0	.	13.0025	0.58683	0.0792:0.0:0.9208:0.0	.	912	O43151	TET3_HUMAN	K	912	ENSP00000386869:E912K	ENSP00000233310:E912K	E	+	1	0	TET3	74174173	1.000000	0.71417	0.957000	0.39632	0.783000	0.44284	7.536000	0.82023	1.420000	0.47138	0.655000	0.94253	GAG	TET3	-	NULL		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	G			74320665	1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74320665	G	A	74320665	3	1	2	1	0	0	0	0	1	0	0	0	15801	1059	37	1	2760	1	TET3	2	74320665	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	4566233	74320665	168878708	17	120										
TMEM131	23505	genome.wustl.edu	37	chr2	98409038	98409038	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gggggcgggagacagcctttCaggctgcggctcctggggct	19	11	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:98409038C>G	ENST00000186436.5	-	31	4183	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1319	Pro-rich.					integral component of membrane (GO:0016021)		p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACAGCCTTTCAGGCTGCGGC	0.677																																																	3	Substitution - Missense(2)|Substitution - Nonsense(1)	cervix(2)|breast(1)											21	25	23					2																	98409038		2093	4223	6316	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3955G>C	2.37:g.98409038C>G	ENSP00000186436:p.Glu1319Gln			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.E1319Q	ENST00000186436.5	37	c.3955	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288090	0.40494	.	.	ENSG00000075568	ENST00000186436	T	0.24151	1.87	5.91	5.91	0.95273	.	0.562624	0.18838	N	0.129774	T	0.24812	0.0602	L	0.36672	1.1	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.05131	-1.0904	10	0.21014	T	0.42	-2.0572	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1319	Q92545	TM131_HUMAN	Q	1319	ENSP00000186436:E1319Q	ENSP00000186436:E1319Q	E	-	1	0	TMEM131	97775470	0.161000	0.22892	0.008000	0.14137	0.651000	0.38670	3.599000	0.54045	2.793000	0.96121	0.655000	0.94253	GAA	TMEM131	-	NULL		0.677	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98409038	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	0.036	G	G	98409038	C	G	98409038	3	3	2	1	0	0	0	0	1	0	0	0	16074	835	29	1	1740	1	TMEM131	2	98409038	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	24088373	98409038	144790335	18	121										
TSGA10	80705	genome.wustl.edu	37	chr2	99688285	99688285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atttgtctcatccaattgccGacgcattctggaaacgtctt	7	11	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:99688285G>A	ENST00000393483.3	-	14	1835	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.R331W|TSGA10_ENST00000539964.1_Missense_Mutation_p.R331W|TSGA10_ENST00000542655.1_3'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.R331W	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	331					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.R331W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCCAATTGCCGACGCATTCTG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											162	148	153					2																	99688285		2203	4300	6503	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.991C>T	2.37:g.99688285G>A	ENSP00000377123:p.Arg331Trp		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.R331W	ENST00000393483.3	37	c.991	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798635	0.70567	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	D;D;D;D;T;T	0.83163	-1.69;-1.69;-1.69;-1.69;-1.26;-1.26	5.35	0.964	0.19655	.	0.125212	0.35615	N	0.003082	D	0.86826	0.6026	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	D	0.86836	0.2014	10	0.87932	D	0	-7.901	13.391	0.60825	0.0:0.0:0.4817:0.5183	.	331	Q9BZW7	TSG10_HUMAN	W	331	ENSP00000377123:R331W;ENSP00000386956:R331W;ENSP00000347161:R331W;ENSP00000444419:R331W;ENSP00000386508:R331W;ENSP00000377122:R331W	ENSP00000347161:R331W	R	-	1	2	TSGA10	99054717	0.244000	0.23889	0.833000	0.33012	0.999000	0.98932	0.585000	0.23879	0.342000	0.23796	0.650000	0.86243	CGG	TSGA10	-	NULL		0.433	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	G	NM_182911		99688285	-1	no_errors	ENST00000355053	ensembl	human	known	70_37	missense	SNP	0.669	A	A	99688285	G	A	99688285	3	1	2	1	0	0	0	0	1	0	0	0	16648	1057	37	1	1137	1	TSGA10	2	99688285	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	1279247	99688285	143511088	19	122										
RNF149	284996	genome.wustl.edu	37	chr2	101905451	101905453	+	In_Frame_Del	DEL	TAA	TAA	-													0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atacttgcatggcagaattcTaataatatcctttactttga							TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	TAA	TAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:101905451_101905453delTAA	ENST00000295317.3	-	4	952_954	c.845_847delTTA	c.(844-849)attaga>aga	p.I282del		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	282					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GGCAGAATTCTAATAATATCCTT	0.281																																					Colon(25;331 612 6521 7355 31028)												0																																										SO:0001651	inframe_deletion	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.845_847delTTA	2.37:g.101905454_101905456delTAA	ENSP00000295317:p.Ile282del		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	In_Frame_Del	DEL	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I282in_frame_del	ENST00000295317.3	37	c.847_845	CCDS2051.1	2																																																																																			RNF149	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.281	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	TAA	NM_173647		101905453	-1	no_errors	ENST00000295317	ensembl	human	known	70_37	in_frame_del	DEL	0.999:0.991:1.000	-	-	101905453	TAA	-	101905451	7	5	2	1	0	1	0	1	0	0	0	0	13480	1530	53	0	371	0	RNF149	2	101905451	In_Frame_Del	DEL	TAA	TCGA-BI-A0VS-01A-11D-A10S-08	2217166	101905451	141293922	20	123										
NEB	4703	genome.wustl.edu	37	chr2	152476025	152476025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tcattctggtcgggcaggcaGatccattcatgcagaggatg	13	9	3	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:152476025G>A	ENST00000172853.10	-	69	10230	c.10083C>T	c.(10081-10083)atC>atT	p.I3361I	NEB_ENST00000397345.3_Silent_p.I3604I|NEB_ENST00000427231.2_Silent_p.I3604I|NEB_ENST00000604864.1_Silent_p.I3604I|NEB_ENST00000409198.1_Silent_p.I3361I|NEB_ENST00000603639.1_Silent_p.I3604I			P20929	NEBU_HUMAN	nebulin	3361					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.I3604I(1)|p.I3361I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGGCAGGCAGATCCATTCAT	0.488																																																	2	Substitution - coding silent(2)	cervix(2)											158	151	153					2																	152476025		2029	4202	6231	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10083C>T	2.37:g.152476025G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I3604	ENST00000172853.10	37	c.10812		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.488	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152476025	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	0.839	A	A	152476025	G	A	152476025	2	1	2	1	0	0	0	0	0	0	0	1	10326	932	33	1		1	NEB	2	152476025	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	50570574	152476025	90723348	21	124										
ACVR1C	130399	genome.wustl.edu	37	chr2	158412762	158412762	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	catgcccatactgtcagcatCgcagctatggacaggaggca	11	12	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:158412762C>G	ENST00000243349.8	-	3	747	c.387G>C	c.(385-387)gcG>gcC	p.A129A	ACVR1C_ENST00000409680.3_Silent_p.A79A|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.A129A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTGTCAGCATCGCAGCTATGG	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											104	84	91					2																	158412762		2203	4300	6503	SO:0001819	synonymous_variant	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.387G>C	2.37:g.158412762C>G				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A129	ENST00000243349.8	37	c.387	CCDS2205.1	2																																																																																			ACVR1C	-	NULL		0.483	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	C	NM_145259		158412762	-1	no_errors	ENST00000243349	ensembl	human	known	70_37	silent	SNP	0.519	G	G	158412762	C	G	158412762	2	3	2	1	0	0	0	0	0	0	0	1	222	871	31	1		1	ACVR1C	2	158412762	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	5936737	158412762	84786611	22	125										
MFSD6	54842	genome.wustl.edu	37	chr2	191301315	191301315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aacaaattcttcctttacctCtttcctcaccatatcaccaa	0	15	4	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:191301315C>G	ENST00000392328.1	+	3	884	c.560C>G	c.(559-561)tCt>tGt	p.S187C	MFSD6_ENST00000281416.7_Missense_Mutation_p.S187C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	187					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S187C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCCTTTACCTCTTTCCTCACC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											83	92	89					2																	191301315		2203	4300	6503	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.560C>G	2.37:g.191301315C>G	ENSP00000376141:p.Ser187Cys		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S187C	ENST00000392328.1	37	c.560	CCDS2306.1	2	.	.	.	.	.	.	.	.	.	.	C	5.079	0.200204	0.09652	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.33216	1.42;1.42	5.06	4.18	0.49190	Major facilitator superfamily domain, general substrate transporter (1);	1.116950	0.06563	N	0.746983	T	0.30916	0.0780	L	0.40543	1.245	0.32349	N	0.558693	B	0.33448	0.412	B	0.33295	0.161	T	0.30851	-0.9964	10	0.44086	T	0.13	-0.9926	13.0859	0.59140	0.0:0.9223:0.0:0.0777	.	187	Q6ZSS7	MFSD6_HUMAN	C	187	ENSP00000376141:S187C;ENSP00000281416:S187C	ENSP00000281416:S187C	S	+	2	0	MFSD6	191009560	0.848000	0.29623	0.023000	0.16930	0.234000	0.25298	2.791000	0.47829	1.360000	0.45960	0.650000	0.86243	TCT	MFSD6	-	superfamily_MFS_dom_general_subst_transpt		0.443	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1	C			191301315	1	no_errors	ENST00000281416	ensembl	human	known	70_37	missense	SNP	0.107	G	G	191301315	C	G	191301315	3	3	2	1	0	0	0	0	1	0	0	0	9558	913	32	1	562	1	MFSD6	2	191301315	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	32888553	191301315	51898058	23	126										
SUMO1	7341	genome.wustl.edu	37	chr2	203079157	203079157	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gaagtgaatctcactgctatCctaaggagataaaaaagaaa	8	6	1	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:203079157C>G	ENST00000392246.2	-	3	244	c.88G>C	c.(88-90)Gat>Cat	p.D30H	SUMO1_ENST00000392244.3_Splice_Site_p.D5H|SUMO1_ENST00000409368.1_Splice_Site_p.D30H|SUMO1_ENST00000392245.1_Splice_Site_p.D30H|SUMO1_ENST00000409712.1_Splice_Site_p.D30H|SUMO1_ENST00000409205.1_Intron|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409498.2_5'UTR|SUMO1_ENST00000409181.1_Splice_Site_p.D30H	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	30	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)	p.D30H(1)									TCACTGCTATCCTAAGGAGAT	0.303																																																	1	Substitution - Missense(1)	cervix(1)											77	66	70					2																	203079157		2202	4297	6499	SO:0001630	splice_region_variant	7341			U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"ubiquitin-like 1 (sentrin)", "SMT3 suppressor of mif two 3 homolog 1 (yeast)", "SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.88-1G>C	2.37:g.203079157C>G			A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Missense_Mutation	SNP	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.D30H	ENST00000392246.2	37	c.88	CCDS2352.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102169	0.76983	.	.	ENSG00000116030	ENST00000392246;ENST00000392245;ENST00000409368;ENST00000392244;ENST00000409712;ENST00000409181	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.51	4.64	0.57946	Ubiquitin supergroup (1);Ubiquitin (2);	0.044333	0.85682	D	0.000000	T	0.67069	0.2854	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.982	T	0.75886	-0.3159	10	0.87932	D	0	-17.6409	14.1648	0.65469	0.0:0.9281:0.0:0.0719	.	5;30	A8MUS8;P63165	.;SUMO1_HUMAN	H	30;30;30;5;30;30	ENSP00000376077:D30H;ENSP00000376076:D30H;ENSP00000387204:D30H;ENSP00000376075:D5H;ENSP00000386296:D30H;ENSP00000386753:D30H	ENSP00000376075:D5H	D	-	1	0	SUMO1	202787402	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.433000	0.80362	1.336000	0.45506	0.467000	0.42956	GAT	SUMO1	-	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.303	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO1	HGNC	protein_coding	OTTHUMT00000256312.2	C	NM_003352	Missense_Mutation	203079157	-1	no_errors	ENST00000392245	ensembl	human	known	70_37	missense	SNP	1.000	G	G	203079157	C	G	203079157	5	3	2	1	0	0	0	0	0	0	1	0	15417	869	30	1	229	1	SUMO1	2	203079157	Splice_Site	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	11777842	203079157	40120216	24	127										
WDR12	55759	genome.wustl.edu	37	chr2	203748344	203748344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gaatttaccttcttgtatccCacagcttaacaatgttatct	4	10	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr2:203748344C>A	ENST00000261015.4	-	11	1858	c.1109G>T	c.(1108-1110)tGg>tTg	p.W370L		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCTTGTATCCCACAGCTTAAC	0.348																																																	0													71	64	66					2																	203748344		2203	4300	6503	SO:0001583	missense	55759			AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"WD repeat domain containing"	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1109G>T	2.37:g.203748344C>A	ENSP00000261015:p.Trp370Leu			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W370L	ENST00000261015.4	37	c.1109	CCDS2356.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.134293	0.94517	.	.	ENSG00000138442	ENST00000261015	D	0.83506	-1.73	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95212	0.8326	10	0.87932	D	0	-4.7959	19.6054	0.95580	0.0:1.0:0.0:0.0	.	370;370	Q53T99;Q9GZL7	.;WDR12_HUMAN	L	370	ENSP00000261015:W370L	ENSP00000261015:W370L	W	-	2	0	WDR12	203456589	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.729000	0.84864	2.619000	0.88677	0.549000	0.68633	TGG	WDR12	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.348	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR12	HGNC	protein_coding	OTTHUMT00000256329.4	C	NM_018256		203748344	-1	no_errors	ENST00000261015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	203748344	C	A	203748344	3	1	2	1	0	0	0	0	1	0	0	0	17305	595	21	4	174	4	WDR12	2	203748344	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	669187	203748344	39451029	25	128										
ATG7	10533	genome.wustl.edu	37	chr3	11372813	11372813	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gaaagtcttttttgttcacaGataacaattggtgtatatga	8	4	2	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr3:11372813G>A	ENST00000354449.3	+	8	703		c.e8-1		ATG7_ENST00000446450.2_Splice_Site|ATG7_ENST00000354956.5_Splice_Site	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTTGTTCACAGATAACAATTG	0.398																																																	1	Unknown(1)	cervix(1)											256	251	253					3																	11372813		2203	4300	6503	SO:0001630	splice_region_variant	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.679-1G>A	3.37:g.11372813G>A			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Splice_Site	SNP	-	e7-1	ENST00000354449.3	37	c.679-1	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900724	0.72754	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5143	0.90930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG7	11347813	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	8.179000	0.89692	2.475000	0.83589	0.591000	0.81541	.	ATG7	-	-		0.398	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	G	NM_006395	Intron	11372813	1	no_errors	ENST00000354449	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	11372813	G	A	11372813	5	1	2	1	0	0	0	0	0	0	1	0	1102	956	33	1	704	1	ATG7	3	11372813	Splice_Site	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08		11372813	186649617	26	129										
MST1R	4486	genome.wustl.edu	37	chr3	49933981	49933981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gcactcactcaccctgctttCcactgccctaagcccgtcat	5	19	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr3:49933981C>T	ENST00000296474.3	-	9	2458	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	MST1R_ENST00000344206.4_Missense_Mutation_p.E811K|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	811	IPT/TIG 3.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.E811K(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACCCTGCTTTCCACTGCCCTA	0.577																																																	2	Substitution - Missense(2)	cervix(2)											116	100	106					3																	49933981		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2431G>A	3.37:g.49933981C>T	ENSP00000296474:p.Glu811Lys		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E811K	ENST00000296474.3	37	c.2431	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	5.522	0.281168	0.10458	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.59083	0.29;0.29	5.69	3.57	0.40892	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.340491	0.38778	N	0.001572	T	0.43322	0.1242	L	0.45137	1.4	0.09310	N	0.99999	B;B	0.09022	0.002;0.002	B;B	0.13407	0.009;0.003	T	0.24905	-1.0147	10	0.06757	T	0.87	-17.726	10.8729	0.46894	0.0:0.8244:0.0:0.1756	.	811;811	Q04912-5;Q04912	.;RON_HUMAN	K	811	ENSP00000296474:E811K;ENSP00000341325:E811K	ENSP00000296474:E811K	E	-	1	0	MST1R	49908985	0.002000	0.14202	0.989000	0.46669	0.357000	0.29423	0.061000	0.14366	1.409000	0.46915	0.462000	0.41574	GAA	MST1R	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pirsf_Tyr_kinase_HGF/MSP_rcpt		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49933981	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.350	T	T	49933981	C	T	49933981	3	4	2	1	0	0	0	0	1	0	0	0	9914	864	30	1	1819	1	MST1R	3	49933981	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	38561168	49933981	148088449	27	130										
ROBO1	6091	genome.wustl.edu	37	chr3	78734954	78734954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccagcaacatttaaagtctgGcagatgtaataaccaacatc	6	10	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr3:78734954G>A	ENST00000464233.1	-	10	1397	c.1284C>T	c.(1282-1284)tgC>tgT	p.C428C	ROBO1_ENST00000467549.1_Silent_p.C392C|ROBO1_ENST00000436010.2_Silent_p.C389C|ROBO1_ENST00000495273.1_Silent_p.C392C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	428	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.C428C(2)|p.C405C(1)|p.C392C(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTAAAGTCTGGCAGATGTAAT	0.398																																																	4	Substitution - coding silent(4)	cervix(4)											65	64	64					3																	78734954		1907	4110	6017	SO:0001819	synonymous_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1284C>T	3.37:g.78734954G>A			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.C428	ENST00000464233.1	37	c.1284	CCDS54611.1	3																																																																																			ROBO1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78734954	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	silent	SNP	1.000	A	A	78734954	G	A	78734954	2	1	2	1	0	0	0	0	0	0	0	1	13543	1195	42	4		4	ROBO1	3	78734954	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	28800973	78734954	119287476	28	131										
MYH15	22989	genome.wustl.edu	37	chr3	108195277	108195277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgacctctggtaacatattcGttaccaactttgattctagg	7	9	2	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr3:108195277G>A	ENST00000273353.3	-	13	1316	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	420	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.N420N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TAACATATTCGTTACCAACTT	0.358																																																	1	Substitution - coding silent(1)	cervix(1)											82	77	79					3																	108195277		1863	4110	5973	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1260C>T	3.37:g.108195277G>A				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.N420	ENST00000273353.3	37	c.1260	CCDS43127.1	3																																																																																			MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.358	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108195277	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	silent	SNP	1.000	A	A	108195277	G	A	108195277	2	1	2	1	0	0	0	0	0	0	0	1	10057	1136	40	2		2	MYH15	3	108195277	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	29460323	108195277	89827153	29	132										
ZNF148	7707	genome.wustl.edu	37	chr3	124951901	124951901	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgcaacactgaaggatatctCatgctgtccattagctttgt	8	9	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr3:124951901C>T	ENST00000360647.4	-	9	2154	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.E557K|ZNF148_ENST00000492394.1_Missense_Mutation_p.E557K|ZNF148_ENST00000484491.1_Missense_Mutation_p.E557K|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	557					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E557K(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AAGGATATCTCATGCTGTCCA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											97	91	93					3																	124951901		2203	4300	6503	SO:0001583	missense	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1669G>A	3.37:g.124951901C>T	ENSP00000353863:p.Glu557Lys		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E557K	ENST00000360647.4	37	c.1669	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569509	0.86439	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.03	5.03	0.67393	.	0.050813	0.85682	D	0.000000	T	0.50000	0.1590	L	0.48642	1.525	0.80722	D	1	D	0.55172	0.97	P	0.46172	0.506	T	0.56547	-0.7961	10	0.87932	D	0	-12.4883	18.554	0.91077	0.0:1.0:0.0:0.0	.	557	Q9UQR1	ZN148_HUMAN	K	557	ENSP00000353863:E557K;ENSP00000420335:E557K;ENSP00000419322:E557K;ENSP00000420448:E557K	ENSP00000353863:E557K	E	-	1	0	ZNF148	126434591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.611000	0.88343	0.655000	0.94253	GAG	ZNF148	-	NULL		0.398	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	C	NM_021964		124951901	-1	no_errors	ENST00000360647	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124951901	C	T	124951901	3	4	2	1	0	0	0	0	1	0	0	0	17764	835	29	1	719	1	ZNF148	3	124951901	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	16756624	124951901	73070529	30	133										
WDR19	57728	genome.wustl.edu	37	chr4	39246134	39246134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tatgaaaaaggtctctactaCgataaagcagcatctgttta	7	7	2	1	rs371645967		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:39246134C>T	ENST00000399820.3	+	23	2761	c.2607C>T	c.(2605-2607)taC>taT	p.Y869Y	WDR19_ENST00000288634.7_Silent_p.Y709Y	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	869					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.Y869Y(1)		large_intestine(1)	1						GTCTCTACTACGATAAAGCAG	0.388																																																	1	Substitution - coding silent(1)	cervix(1)						C		1,3733		0,1,1866	119	114	115		2607	-1.5	1	4		115	0,8192		0,0,4096	no	coding-synonymous	WDR19	NM_025132.3		0,1,5962	TT,TC,CC		0.0,0.0268,0.0084		869/1343	39246134	1,11925	1867	4096	5963	SO:0001819	synonymous_variant	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2607C>T	4.37:g.39246134C>T			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.Y869	ENST00000399820.3	37	c.2607	CCDS47042.1	4																																																																																			WDR19	-	NULL		0.388	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	C			39246134	1	no_errors	ENST00000399820	ensembl	human	known	70_37	silent	SNP	0.998	T	T	39246134	C	T	39246134	2	4	2	1	0	0	0	0	0	0	0	1	17310	547	19	2		2	WDR19	4	39246134	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		39246134	151908142	31	134										
NSUN7	79730	genome.wustl.edu	37	chr4	40752791	40752791	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	caactcacttccctgcctctGtccggtgggaaaagctcagc	9	15	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:40752791G>C	ENST00000381782.2	+	2	576	c.81G>C	c.(79-81)ctG>ctC	p.L27L	NSUN7_ENST00000316607.5_Silent_p.L27L	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	27							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.L27L(2)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCCTGCCTCTGTCCGGTGGGA	0.527																																																	2	Substitution - coding silent(2)	cervix(2)											81	77	79					4																	40752791		2203	4300	6503	SO:0001819	synonymous_variant	79730			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.81G>C	4.37:g.40752791G>C			C9JI19|Q8N9K8|Q9H815	Silent	SNP	pfam_Fmu/NOL1/Nop2p	p.L27	ENST00000381782.2	37	c.81	CCDS3461.2	4																																																																																			NSUN7	-	NULL		0.527	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2	G	NM_024677		40752791	1	no_errors	ENST00000381782	ensembl	human	known	70_37	silent	SNP	0.010	C	C	40752791	G	C	40752791	2	2	2	1	0	0	0	0	0	0	0	1	10707	1364	48	4		4	NSUN7	4	40752791	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	1506657	40752791	150401485	32	135										
CWH43	80157	genome.wustl.edu	37	chr4	49040097	49040097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ggctattgctgtttcaaaacTactgaaaagtagctctaatc	7	8	2	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:49040097T>G	ENST00000226432.4	+	13	1886	c.1703T>G	c.(1702-1704)cTa>cGa	p.L568R	CWH43_ENST00000513409.1_Missense_Mutation_p.L541R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	568					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.L568R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTTCAAAACTACTGAAAAGT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											141	148	146					4																	49040097		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1703T>G	4.37:g.49040097T>G	ENSP00000226432:p.Leu568Arg		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.L568R	ENST00000226432.4	37	c.1703	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044856	0.55110	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29655	1.56;1.56	3.72	3.72	0.42706	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.43919	D	0.000506	T	0.46927	0.1418	L	0.53561	1.675	0.45035	D	0.998054	D	0.89917	1.0	D	0.76575	0.988	T	0.36986	-0.9725	9	.	.	.	.	11.6604	0.51343	0.0:0.0:0.0:1.0	.	568	Q9H720	PG2IP_HUMAN	R	568;541	ENSP00000226432:L568R;ENSP00000422802:L541R	.	L	+	2	0	CWH43	48734854	0.786000	0.28738	0.998000	0.56505	0.956000	0.61745	4.714000	0.61902	1.926000	0.55796	0.454000	0.30748	CTA	CWH43	-	superfamily_Endo/exonuclease/phosphatase		0.358	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	T	NM_025087		49040097	1	no_errors	ENST00000226432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49040097	T	G	49040097	3	3	2	1	0	0	0	0	1	0	0	0	4078	1522	53	5	1753	5	CWH43	4	49040097	Missense_Mutation	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08	8287306	49040097	142114179	33	136										
HERC6	55008	genome.wustl.edu	37	chr4	89326036	89326036	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccttccctgaaggatactagTtccacacgtgctcccgggaa	9	14	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:89326036T>C	ENST00000264346.7	+	9	1160	c.1101T>C	c.(1099-1101)agT>agC	p.S367S	HERC6_ENST00000380265.5_Silent_p.S367S	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	367					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S367S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGGATACTAGTTCCACACGTG	0.433																																																	1	Substitution - coding silent(1)	cervix(1)											119	108	111					4																	89326036		1886	4115	6001	SO:0001819	synonymous_variant	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1101T>C	4.37:g.89326036T>C			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S367	ENST00000264346.7	37	c.1101	CCDS47098.1	4																																																																																			HERC6	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.433	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	T			89326036	1	no_errors	ENST00000264346	ensembl	human	known	70_37	silent	SNP	0.000	C	C	89326036	T	C	89326036	2	2	2	1	0	0	0	0	0	0	0	1	7082	1722	60	5		5	HERC6	4	89326036	Silent	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08	40285939	89326036	101828240	34	137										
RRH	10692	genome.wustl.edu	37	chr4	110765315	110765315	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgacaagtattttacccatgGatgtatctcaaaacccattg	6	9	1	1	rs144856430	byFrequency	TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:110765315G>C	ENST00000317735.4	+	7	1010	c.976G>C	c.(976-978)Gat>Cat	p.D326H		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	326					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TTTACCCATGGATGTATCTCA	0.358																																																	0													147	141	143					4																	110765315		2203	4300	6503	SO:0001583	missense	10692			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"GPCR / Class A : Opsin receptors"	10450	protein-coding gene	gene with protein product	"peropsin"	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.976G>C	4.37:g.110765315G>C	ENSP00000314992:p.Asp326His		A1A4V2|Q7RTS4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.D326H	ENST00000317735.4	37	c.976	CCDS3687.1	4	.	.	.	.	.	.	.	.	.	.	G	9.800	1.180382	0.21787	.	.	ENSG00000180245	ENST00000317735	T	0.37915	1.17	5.9	3.96	0.45880	.	2.486670	0.01820	N	0.033981	T	0.39708	0.1088	L	0.51422	1.61	0.36845	D	0.887583	B	0.29805	0.257	B	0.35353	0.201	T	0.37267	-0.9713	10	0.72032	D	0.01	.	4.6823	0.12741	0.6596:0.0:0.3404:0.0	.	326	O14718	OPSX_HUMAN	H	326	ENSP00000314992:D326H	ENSP00000314992:D326H	D	+	1	0	RRH	110984764	1.000000	0.71417	0.997000	0.53966	0.091000	0.18340	5.019000	0.64060	0.759000	0.33084	-0.136000	0.14681	GAT	RRH	-	prints_Peropsin		0.358	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1	G	NM_006583		110765315	1	no_errors	ENST00000317735	ensembl	human	known	70_37	missense	SNP	0.970	C	C	110765315	G	C	110765315	3	2	2	1	0	0	0	0	1	0	0	0	13710	1174	41	1	1002	1	RRH	4	110765315	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	21439279	110765315	80388961	35	138										
LRIT3	345193	genome.wustl.edu	37	chr4	110791137	110791137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tccctctactgcttccttctCtttatctcctttctcctcct	1	18	4	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:110791137C>T	ENST00000594814.1	+	4	1232	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	LRIT3_ENST00000409621.2_Missense_Mutation_p.S228F|LRIT3_ENST00000327908.3_Missense_Mutation_p.S228F|LRIT3_ENST00000379920.3_Missense_Mutation_p.S366F	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	411	Ser-rich.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S228F(1)|p.S366F(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		gcttccttctctttatctcct	0.468																																																	2	Substitution - Missense(2)	cervix(2)											165	142	150					4																	110791137		2203	4300	6503	SO:0001583	missense	345193			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1232C>T	4.37:g.110791137C>T	ENSP00000469759:p.Ser411Phe		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S411F	ENST00000594814.1	37	c.1232	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869859	0.51588	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.59906	0.23;0.46;0.23	4.54	4.54	0.55810	.	1.064100	0.07227	N	0.861784	T	0.64294	0.2585	L	0.36672	1.1	0.19945	N	0.999947	P;D	0.54207	0.94;0.965	P;P	0.54312	0.564;0.748	T	0.57602	-0.7783	10	0.59425	D	0.04	.	14.2005	0.65699	0.0:1.0:0.0:0.0	.	366;228	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	F	228;366;228	ENSP00000328222:S228F;ENSP00000369252:S366F;ENSP00000386734:S228F	ENSP00000328222:S228F	S	+	2	0	LRIT3	111010586	0.006000	0.16342	0.153000	0.22517	0.927000	0.56198	1.964000	0.40462	2.067000	0.61834	0.655000	0.94253	TCT	LRIT3	-	NULL		0.468	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	C	NM_198506		110791137	1	no_errors	ENST00000594814	ensembl	human	known	70_37	missense	SNP	0.324	T	T	110791137	C	T	110791137	3	4	2	1	0	0	0	0	1	0	0	0	8972	913	32	1	1107	1	LRIT3	4	110791137	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	25822	110791137	80363139	36	139										
INTU	27152	genome.wustl.edu	37	chr4	128626914	128626914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gacctttggcagactcaagcActgaagtctttccggaacct	9	12	2	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:128626914A>G	ENST00000335251.6	+	11	1838	c.1735A>G	c.(1735-1737)Act>Gct	p.T579A	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	579					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.T579A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGACTCAAGCACTGAAGTCTT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											136	129	131					4																	128626914		2203	4300	6503	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1735A>G	4.37:g.128626914A>G	ENSP00000334003:p.Thr579Ala		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T579A	ENST00000335251.6	37	c.1735	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	A	1.236	-0.622724	0.03636	.	.	ENSG00000164066	ENST00000335251;ENST00000506283	T;T	0.29655	1.56;1.56	5.36	-6.15	0.02105	.	0.610574	0.16145	N	0.227534	T	0.09730	0.0239	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34378	-0.9831	10	0.07644	T	0.81	-0.0935	1.8132	0.03095	0.3658:0.0802:0.2953:0.2586	.	579	Q9ULD6	PDZD6_HUMAN	A	579;93	ENSP00000334003:T579A;ENSP00000426171:T93A	ENSP00000334003:T579A	T	+	1	0	INTU	128846364	0.000000	0.05858	0.014000	0.15608	0.045000	0.14185	-0.261000	0.08694	-1.082000	0.03101	-1.773000	0.00660	ACT	INTU	-	NULL		0.413	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	A	XM_371707		128626914	1	no_errors	ENST00000335251	ensembl	human	known	70_37	missense	SNP	0.000	G	G	128626914	A	G	128626914	3	3	2	1	0	0	0	0	1	0	0	0	7806	159	6	5	1777	5	INTU	4	128626914	Missense_Mutation	SNP	A	TCGA-BI-A0VS-01A-11D-A10S-08	17835777	128626914	62527362	37	140										
PDGFC	56034	genome.wustl.edu	37	chr4	157688963	157688963	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aactttgcttgggacacattGacattcattgcaattgtgga	9	7	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:157688963G>A	ENST00000502773.1	-	5	1373	c.883C>T	c.(883-885)Caa>Taa	p.Q295*	PDGFC_ENST00000541126.1_Nonsense_Mutation_p.Q132*|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Nonsense_Mutation_p.Q140*	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	295					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.Q295*(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGGACACATTGACATTCATTG	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											135	125	128					4																	157688963		2203	4300	6503	SO:0001587	stop_gained	56034			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.883C>T	4.37:g.157688963G>A	ENSP00000422464:p.Gln295*		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Nonsense_Mutation	SNP	pfam_CUB,pfam_PD_growth_factor,superfamily_CUB,smart_CUB,smart_PD_growth_factor,pfscan_CUB,pfscan_PD_growth_factor	p.Q295*	ENST00000502773.1	37	c.883	CCDS3795.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.660505	0.98419	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	.	.	.	5.56	5.56	0.83823	.	0.115412	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.7334	19.5347	0.95244	0.0:0.0:1.0:0.0	.	.	.	.	X	295;132;140	.	ENSP00000422464:Q295X	Q	-	1	0	PDGFC	157908413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.854000	0.86942	2.617000	0.88574	0.650000	0.86243	CAA	PDGFC	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.403	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFC	HGNC	protein_coding	OTTHUMT00000366123.1	G			157688963	-1	no_errors	ENST00000502773	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	157688963	G	A	157688963	4	1	2	1	0	0	0	0	0	1	0	0	11683	1299	45	1	162	1	PDGFC	4	157688963	Nonsense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	29062049	157688963	33465313	38	141										
ADAM29	11086	genome.wustl.edu	37	chr4	175896932	175896932	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctgtgttcacctacacagacCagggtgctatccttgaggac	10	12	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr4:175896932C>T	ENST00000359240.3	+	5	926	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q86*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q86*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q86*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	86					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q86*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACACAGACCAGGGTGCTAT	0.478																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Nonsense(1)	cervix(1)											47	48	48					4																	175896932		2203	4300	6503	SO:0001587	stop_gained	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.256C>T	4.37:g.175896932C>T	ENSP00000352177:p.Gln86*		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q86*	ENST00000359240.3	37	c.256	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916188	0.92249	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	.	.	.	3.77	2.9	0.33743	.	0.606157	0.12714	U	0.445253	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5573	0.33489	0.2303:0.7697:0.0:0.0	.	.	.	.	X	86	.	.	Q	+	1	0	ADAM29	176133507	0.000000	0.05858	0.968000	0.41197	0.640000	0.38277	-0.598000	0.05706	1.128000	0.42052	0.637000	0.83480	CAG	ADAM29	-	pfam_Peptidase_M12B_N		0.478	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		C			175896932	1	no_errors	ENST00000359240	ensembl	human	known	70_37	nonsense	SNP	0.975	T	T	175896932	C	T	175896932	4	4	2	1	0	0	0	0	0	1	0	0	247	595	21	4	258	4	ADAM29	4	175896932	Nonsense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	18207969	175896932	15257344	39	142										
CDH12	1010	genome.wustl.edu	37	chr5	21975288	21975288	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atatcctgcactttgatgatGaattctgattcaggctccag	8	9	2	4			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:21975288G>C	ENST00000382254.1	-	6	1524	c.438C>G	c.(436-438)ttC>ttG	p.F146L	CDH12_ENST00000504376.2_Missense_Mutation_p.F146L|CDH12_ENST00000522262.1_Missense_Mutation_p.F146L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	146	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F146L(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTTGATGATGAATTCTGATT	0.433										HNSCC(59;0.17)																																							1	Substitution - Missense(1)	cervix(1)											44	47	46					5																	21975288		2033	3869	5902	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.438C>G	5.37:g.21975288G>C	ENSP00000371689:p.Phe146Leu		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F146L	ENST00000382254.1	37	c.438	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907257	0.72868	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55930	0.49;0.49;0.49	5.16	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	L	0.33753	1.03	0.46631	D	0.999132	D;D	0.61080	0.975;0.989	P;D	0.73708	0.836;0.981	T	0.61277	-0.7095	10	0.87932	D	0	.	9.7417	0.40422	0.1578:0.0:0.8422:0.0	.	146;146	B7Z2U6;P55289	.;CAD12_HUMAN	L	146	ENSP00000423577:F146L;ENSP00000371689:F146L;ENSP00000428786:F146L	ENSP00000371689:F146L	F	-	3	2	CDH12	22011045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.201000	0.42734	1.183000	0.42943	0.484000	0.47621	TTC	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	G	NM_004061		21975288	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21975288	G	C	21975288	3	2	2	1	0	0	0	0	1	0	0	0	3103	1281	45	1	1986	1	CDH12	5	21975288	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08		21975288	158939972	40	143										
CKMT2	1160	genome.wustl.edu	37	chr5	80554979	80554979	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	acgaggctgggagttcatgtGgaatgagcgcctaggataca	15	7	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:80554979G>A	ENST00000424301.2	+	9	1158	c.920G>A	c.(919-921)tGg>tAg	p.W307*	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Nonsense_Mutation_p.W307*|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Nonsense_Mutation_p.W307*|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	307	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.W307*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GAGTTCATGTGGAATGAGCGC	0.473																																																	1	Substitution - Nonsense(1)	cervix(1)											251	224	233					5																	80554979		2203	4300	6503	SO:0001587	stop_gained	1160				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.920G>A	5.37:g.80554979G>A	ENSP00000404203:p.Trp307*		Q6ICS8|Q8N1E1	Nonsense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.W307*	ENST00000424301.2	37	c.920	CCDS4053.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.475787	0.97598	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0718	18.9113	0.92487	0.0:0.0:1.0:0.0	.	.	.	.	X	307	.	ENSP00000254035:W307X	W	+	2	0	CKMT2	80590735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.483000	0.83821	0.591000	0.81541	TGG	CKMT2	-	pfam_ATP-guanido_PTrfase_cat		0.473	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT2	HGNC	protein_coding	OTTHUMT00000369600.1	G	NM_001825		80554979	1	no_errors	ENST00000254035	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	80554979	G	A	80554979	4	1	2	1	0	0	0	0	0	1	0	0	3456	1357	47	4	946	4	CKMT2	5	80554979	Nonsense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	58579691	80554979	100360281	41	144										
SSBP2	23635	genome.wustl.edu	37	chr5	80736439	80736439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cacccatgggaccatctgacCcaggacccattggaaactat	8	14	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:80736439C>A	ENST00000320672.4	-	14	1076	c.866G>T	c.(865-867)gGg>gTg	p.G289V	SSBP2_ENST00000515395.1_Missense_Mutation_p.G267V|SSBP2_ENST00000509053.1_Missense_Mutation_p.G259V|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000505980.1_Missense_Mutation_p.G269V|SSBP2_ENST00000514493.1_Missense_Mutation_p.G259V	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	289	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.G289V(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ACCATCTGACCCAGGACCCAT	0.333																																																	1	Substitution - Missense(1)	cervix(1)											70	74	73					5																	80736439		2203	4300	6503	SO:0001583	missense	23635			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.866G>T	5.37:g.80736439C>A	ENSP00000322977:p.Gly289Val		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.G289V	ENST00000320672.4	37	c.866	CCDS4056.1	5	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767115	0.69878	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	5.49	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.74881	2.28	0.80722	D	1	D;D;D;D;P;P	0.76494	0.999;0.996;0.999;0.999;0.78;0.78	D;D;D;D;B;P	0.77557	0.99;0.979;0.99;0.987;0.386;0.509	T	0.80703	-0.1264	9	0.72032	D	0.01	-5.315	13.9924	0.64374	0.0:0.926:0.0:0.074	.	259;267;269;242;267;289	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	V	289;259;259;242;203;195;269;267	.	ENSP00000322977:G289V	G	-	2	0	SSBP2	80772195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.804000	0.62554	1.317000	0.45149	0.585000	0.79938	GGG	SSBP2	-	pfam_SSDP_ss-bd		0.333	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	C	NM_012446		80736439	-1	no_errors	ENST00000320672	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80736439	C	A	80736439	3	1	2	1	0	0	0	0	1	0	0	0	15210	623	22	4	235	4	SSBP2	5	80736439	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	181460	80736439	100178821	42	145										
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741175	140741175	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ggccaagtttcctactccatCgtagcgagcgacctgaagcc	10	14	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:140741175C>G	ENST00000522605.1	+	1	1473	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	491	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I491M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTCCATCGTAGCGAGCG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											43	45	44					5																	140741175		1940	4123	6063	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1473C>G	5.37:g.140741175C>G	ENSP00000429018:p.Ile491Met		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I491M	ENST00000522605.1	37	c.1473	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313802	0.23908	.	.	ENSG00000253910	ENST00000522605	T	0.02682	4.2	5.18	2.16	0.27623	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11110	0.0271	M	0.79123	2.44	0.24625	N	0.993658	D;D	0.89917	0.999;1.0	D;D	0.78314	0.968;0.991	T	0.16482	-1.0401	9	0.87932	D	0	.	3.0908	0.06293	0.1283:0.491:0.2276:0.1531	.	491;491	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	491	ENSP00000429018:I491M	ENSP00000429018:I491M	I	+	3	3	PCDHGB2	140721359	0.000000	0.05858	0.999000	0.59377	0.136000	0.21042	-2.165000	0.01274	0.647000	0.30713	-0.444000	0.05651	ATC	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.602	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	C	NM_018923		140741175	1	no_errors	ENST00000522605	ensembl	human	known	70_37	missense	SNP	0.998	G	G	140741175	C	G	140741175	3	3	2	1	0	0	0	0	1	0	0	0	11587	874	31	1	1475	1	PCDHGB2	5	140741175	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	60004736	140741175	40174085	43	146			2	2		4	4	710	C		3.885815e-09
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741440	140741440	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccctcttcgatatggtgccaCgcgccgcagagcccggctac	11	17	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:140741440C>G	ENST00000522605.1	+	1	1738	c.1738C>G	c.(1738-1740)Cgc>Ggc	p.R580G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	580	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGTGCCACGCGCCGCAGA	0.662																																																	0													15	19	18					5																	140741440		1870	4018	5888	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1738C>G	5.37:g.140741440C>G	ENSP00000429018:p.Arg580Gly		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R580G	ENST00000522605.1	37	c.1738	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	16.37	3.104398	0.56291	.	.	ENSG00000253910	ENST00000522605	T	0.59224	0.28	4.95	4.95	0.65309	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.77184	0.4093	M	0.84948	2.725	0.27851	N	0.940761	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.971	T	0.71104	-0.4689	9	0.87932	D	0	.	11.7265	0.51712	0.0:0.9172:0.0:0.0828	.	580;580	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	G	580	ENSP00000429018:R580G	ENSP00000429018:R580G	R	+	1	0	PCDHGB2	140721624	0.000000	0.05858	1.000000	0.80357	0.852000	0.48524	0.751000	0.26348	2.452000	0.82932	0.454000	0.30748	CGC	PCDHGB2	-	superfamily_Cadherin-like,pfscan_Cadherin		0.662	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	C	NM_018923		140741440	1	no_errors	ENST00000522605	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140741440	C	G	140741440	3	3	2	1	0	0	0	0	1	0	0	0	11587	536	19	2	1740	2	PCDHGB2	5	140741440	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	265	140741440	40173820	44	147			2	2		4	4	710	C		3.885815e-09
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741819	140741819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctcagtgctcttcttcctcgCggtgattctggcaatctccc	8	15	5	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:140741819C>T	ENST00000522605.1	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A706V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCCTCGCGGTGATTCTG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											93	97	96					5																	140741819		2040	4192	6232	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2117C>T	5.37:g.140741819C>T	ENSP00000429018:p.Ala706Val		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A706V	ENST00000522605.1	37	c.2117	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	0.234	-1.018856	0.02078	.	.	ENSG00000253910	ENST00000522605	T	0.16457	2.34	4.96	4.96	0.65561	.	.	.	.	.	T	0.15435	0.0372	L	0.58428	1.81	0.09310	N	1	P;P	0.39424	0.673;0.527	B;B	0.30105	0.111;0.048	T	0.22836	-1.0205	9	0.10377	T	0.69	.	14.986	0.71348	0.0:0.8567:0.1433:0.0	.	706;706	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	706	ENSP00000429018:A706V	ENSP00000429018:A706V	A	+	2	0	PCDHGB2	140722003	0.000000	0.05858	0.027000	0.17364	0.390000	0.30446	0.162000	0.16501	2.467000	0.83353	0.461000	0.40582	GCG	PCDHGB2	-	NULL		0.592	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	C	NM_018923		140741819	1	no_errors	ENST00000522605	ensembl	human	known	70_37	missense	SNP	0.034	T	T	140741819	C	T	140741819	3	4	2	1	0	0	0	0	1	0	0	0	11587	768	27	2	2119	2	PCDHGB2	5	140741819	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	379	140741819	40173441	45	148			2	2		4	4	710	C		3.885815e-09
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741884	140741884	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cagatgcttgggactgttttCagcctggtctcagctccaag	11	11	2	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:140741884C>T	ENST00000522605.1	+	1	2182	c.2182C>T	c.(2182-2184)Cag>Tag	p.Q728*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q728*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGTTTTCAGCCTGGTCT	0.552																																																	1	Substitution - Nonsense(1)	cervix(1)											106	111	110					5																	140741884		1989	4166	6155	SO:0001587	stop_gained	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2182C>T	5.37:g.140741884C>T	ENSP00000429018:p.Gln728*		Q3MIJ3|Q9UN65	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q728*	ENST00000522605.1	37	c.2182	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	18.92	3.726681	0.69074	.	.	ENSG00000253910	ENST00000522605	.	.	.	5.18	-0.183	0.13284	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	4.3499	0.11150	0.3824:0.3478:0.1999:0.0699	.	.	.	.	X	728	.	ENSP00000429018:Q728X	Q	+	1	0	PCDHGB2	140722068	0.015000	0.18098	0.801000	0.32222	0.070000	0.16714	0.053000	0.14184	0.261000	0.21753	0.461000	0.40582	CAG	PCDHGB2	-	NULL		0.552	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	C	NM_018923		140741884	1	no_errors	ENST00000522605	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	140741884	C	T	140741884	4	4	2	1	0	0	0	0	0	1	0	0	11587	827	29	1	2184	1	PCDHGB2	5	140741884	Nonsense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	65	140741884	40173376	46	149			2	2		4	4	710	C		3.885815e-09
FAM71B	153745	genome.wustl.edu	37	chr5	156590578	156590578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	catgttggattccctctcccCcagcataagcagaagaggtg	10	12	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr5:156590578C>G	ENST00000302938.4	-	2	793	c.698G>C	c.(697-699)gGg>gCg	p.G233A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	233	Ala-rich.					nucleus (GO:0005634)		p.G233A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTCTCCCCCAGCATAAGC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											106	102	104					5																	156590578		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.698G>C	5.37:g.156590578C>G	ENSP00000305596:p.Gly233Ala		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.G233A	ENST00000302938.4	37	c.698	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771071	0.90108	.	.	ENSG00000170613	ENST00000302938	T	0.05139	3.49	3.96	3.96	0.45880	.	0.000000	0.43416	D	0.000576	T	0.14570	0.0352	L	0.60455	1.87	0.32457	N	0.544564	D	0.69078	0.997	P	0.55965	0.788	T	0.02144	-1.1206	10	0.51188	T	0.08	-26.0202	11.8315	0.52299	0.0:1.0:0.0:0.0	.	233	Q8TC56	FA71B_HUMAN	A	233	ENSP00000305596:G233A	ENSP00000305596:G233A	G	-	2	0	FAM71B	156523156	0.847000	0.29606	0.942000	0.38095	0.813000	0.45954	2.859000	0.48364	2.488000	0.83962	0.655000	0.94253	GGG	FAM71B	-	NULL		0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	C	NM_130899		156590578	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	missense	SNP	0.955	G	G	156590578	C	G	156590578	3	3	2	1	0	0	0	0	1	0	0	0	5626	623	22	4	1123	4	FAM71B	5	156590578	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	15848694	156590578	24324682	47	150										
OR11A1	26531	genome.wustl.edu	37	chr6	29395167	29395167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gcttcttgcaggaagccctcCagcatttttggcatcactgc	9	13	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr6:29395167C>T	ENST00000377149.1	-	5	724	c.252G>A	c.(250-252)ctG>ctA	p.L84L	OR11A1_ENST00000377148.1_Silent_p.L84L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.L84L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84L(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GGAAGCCCTCCAGCATTTTTG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											66	60	62					6																	29395167		1511	2709	4220	SO:0001819	synonymous_variant	26531				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.252G>A	6.37:g.29395167C>T			A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.L84	ENST00000377149.1	37	c.252	CCDS34363.1	6																																																																																			OR11A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.498	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	HGNC	protein_coding	OTTHUMT00000193778.1	C			29395167	-1	no_errors	ENST00000377147	ensembl	human	known	70_37	silent	SNP	0.023	T	T	29395167	C	T	29395167	2	4	2	1	0	0	0	0	0	0	0	1	10948	581	21	4		4	OR11A1	6	29395167	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		29395167	141719900	48	151										
PHF3	23469	genome.wustl.edu	37	chr6	64422276	64422276	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aaacattaaaaagacagcttCaggaagatcaagagaataat	7	5	2	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr6:64422276C>T	ENST00000262043.3	+	16	5132	c.4792C>T	c.(4792-4794)Cag>Tag	p.Q1598*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q1598*			Q92576	PHF3_HUMAN	PHD finger protein 3	1598					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q1598*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGACAGCTTCAGGAAGATCA	0.338																																					GBM(135;136 1820 29512 34071 46235)												1	Substitution - Nonsense(1)	cervix(1)											59	56	57					6																	64422276		2203	4300	6503	SO:0001587	stop_gained	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4792C>T	6.37:g.64422276C>T	ENSP00000262043:p.Gln1598*		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.Q1598*	ENST00000262043.3	37	c.4792	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.389272	0.97529	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.25	3.28	0.37604	.	0.542942	0.13868	N	0.357214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3127	13.3619	0.60661	0.0:0.6987:0.3013:0.0	.	.	.	.	X	1598	.	.	Q	+	1	0	PHF3	64480235	0.000000	0.05858	0.067000	0.19924	0.386000	0.30323	-0.048000	0.11944	1.497000	0.48584	0.591000	0.81541	CAG	PHF3	-	NULL		0.338	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	C			64422276	1	no_errors	ENST00000262043	ensembl	human	known	70_37	nonsense	SNP	0.054	T	T	64422276	C	T	64422276	4	4	2	1	0	0	0	0	0	1	0	0	11860	827	29	1	4850	1	PHF3	6	64422276	Nonsense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	35027109	64422276	106692791	49	152										
COQ3	51805	genome.wustl.edu	37	chr6	99817559	99817559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttctccctttaaaacaaactCagcagaggctgggtgttcct	8	11	2	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr6:99817559C>T	ENST00000254759.3	-	7	1051	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	COQ3_ENST00000369242.1_Missense_Mutation_p.E115K|COQ3_ENST00000369240.1_Missense_Mutation_p.E115K	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	343					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)	p.E343K(1)		cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAAACAAACTCAGCAGAGGCT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											153	156	155					6																	99817559		2203	4300	6503	SO:0001583	missense	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1027G>A	6.37:g.99817559C>T	ENSP00000254759:p.Glu343Lys		B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.E343K	ENST00000254759.3	37	c.1027	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983682	0.74474	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.38887	1.63;1.11;1.11	4.66	3.76	0.43208	.	0.339996	0.29579	N	0.011749	T	0.24044	0.0582	L	0.57536	1.79	0.22656	N	0.998889	P	0.44429	0.835	B	0.38500	0.275	T	0.05852	-1.0860	10	0.72032	D	0.01	-20.9302	13.696	0.62580	0.0:0.845:0.155:0.0	.	343	Q9NZJ6	COQ3_HUMAN	K	343;115;115	ENSP00000254759:E343K;ENSP00000358245:E115K;ENSP00000358243:E115K	ENSP00000254759:E343K	E	-	1	0	COQ3	99924280	0.434000	0.25570	0.159000	0.22649	0.041000	0.13682	2.605000	0.46283	1.227000	0.43598	0.650000	0.86243	GAG	COQ3	-	NULL		0.448	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	C	NM_017421		99817559	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	missense	SNP	0.407	T	T	99817559	C	T	99817559	3	4	2	1	0	0	0	0	1	0	0	0	3751	835	29	1	86	1	COQ3	6	99817559	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	35395283	99817559	71297508	50	153										
NPVF	64111	genome.wustl.edu	37	chr7	25266507	25266507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttcttcttgaacgttcctccCaaatctcaatggcaagttgg	7	11	3	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr7:25266507C>A	ENST00000222674.2	-	2	323	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	93					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.G93W(2)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ACGTTCCTCCCAAATCTCAAT	0.443																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											183	179	181					7																	25266507		2203	4300	6503	SO:0001583	missense	64111			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.277G>T	7.37:g.25266507C>A	ENSP00000222674:p.Gly93Trp		A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.G93W	ENST00000222674.2	37	c.277	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781267	0.70222	.	.	ENSG00000105954	ENST00000222674	T	0.49139	0.79	5.67	5.67	0.87782	.	0.089878	0.48767	D	0.000163	T	0.71945	0.3400	M	0.81942	2.565	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.74553	-0.3627	10	0.87932	D	0	-10.2727	18.3222	0.90242	0.0:1.0:0.0:0.0	.	93	Q9HCQ7	RFRP_HUMAN	W	93	ENSP00000222674:G93W	ENSP00000222674:G93W	G	-	1	0	NPVF	25233032	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.013000	0.64023	2.836000	0.97738	0.655000	0.94253	GGG	NPVF	-	NULL		0.443	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	C	NM_022150		25266507	-1	no_errors	ENST00000222674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25266507	C	A	25266507	3	1	2	1	0	0	0	0	1	0	0	0	10629	594	21	4	321	4	NPVF	7	25266507	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		25266507	133872156	51	154										
C7orf63	79846	genome.wustl.edu	37	chr7	89917563	89917563	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aacaggaaattttcggaactGaaggagtagatatcgttctt	10	5	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr7:89917563G>A	ENST00000389297.4	+	15	1923	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	C7orf63_ENST00000316089.8_Missense_Mutation_p.E558K|C7orf63_ENST00000497910.1_Missense_Mutation_p.E540K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		558								p.E558K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTCGGAACTGAAGGAGTAGA	0.338																																																	2	Substitution - Missense(2)	cervix(2)											101	93	95					7																	89917563		1816	4079	5895	SO:0001583	missense	79846																														ENST00000389297.4:c.1672G>A	7.37:g.89917563G>A	ENSP00000373948:p.Glu558Lys		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E558K	ENST00000389297.4	37	c.1672	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546598	0.86022	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.62	5.62	0.85841	Armadillo-type fold (1);	0.210244	0.48767	D	0.000180	T	0.41719	0.1171	M	0.64404	1.975	0.51482	D	0.999923	B;P;P	0.49559	0.415;0.925;0.925	B;P;P	0.47162	0.219;0.54;0.54	T	0.12400	-1.0549	10	0.32370	T	0.25	-16.9972	19.6473	0.95784	0.0:0.0:1.0:0.0	.	540;558;558	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	K	558;558;540;441;141	ENSP00000373948:E558K;ENSP00000321753:E558K;ENSP00000419549:E540K;ENSP00000392365:E441K;ENSP00000391571:E141K	ENSP00000321753:E558K	E	+	1	0	C7orf63	89755499	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.515000	0.81761	2.650000	0.89964	0.591000	0.81541	GAA	C7orf63	-	superfamily_ARM-type_fold		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89917563	1	no_errors	ENST00000389297	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89917563	G	A	89917563	3	1	2	1	0	0	0	0	1	0	0	0	2414	1291	45	1	1730	1	C7orf63	7	89917563	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	64651056	89917563	69221100	52	155										
CUX1	1523	genome.wustl.edu	37	chr7	101844947	101844947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctcaaaaaggaggcccaggaCgcccccgggctggaccccca	12	17	1	0	rs145408393		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr7:101844947C>T	ENST00000292535.7	+	18	2408	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D	CUX1_ENST00000550008.2_Silent_p.D734D|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Silent_p.D688D|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.D801D|CUX1_ENST00000549414.2_Silent_p.D768D|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.D632D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	790					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.D790D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGCCCAGGACGCCCCCGGGC	0.667																																																	1	Substitution - coding silent(1)	cervix(1)						C	,,,,,,	1,4401	2.1+/-5.4	0,1,2200	28	35	32		2403,,,,,,2370	-10.9	0	7	dbSNP_134	32	0,8596		0,0,4298	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	801/1517,,,,,,790/1506	101844947	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2370C>T	7.37:g.101844947C>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D801	ENST00000292535.7	37	c.2403	CCDS5721.1	7																																																																																			CUX1	-	NULL		0.667	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101844947	1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	0.000	T	T	101844947	C	T	101844947	2	4	2	1	0	0	0	0	0	0	0	1	4069	535	19	2		2	CUX1	7	101844947	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	11927384	101844947	57293716	53	156										
REPIN1	29803	genome.wustl.edu	37	chr7	150069177	150069177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agccctatctgacttcgcacCggcgcatccacaccggcgag	10	17	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr7:150069177C>T	ENST00000425389.2	+	1	925	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R283W|REPIN1_ENST00000540729.1_Missense_Mutation_p.R283W|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.R283W|REPIN1_ENST00000489432.2_Missense_Mutation_p.R340W|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	283					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R283W(1)|p.R340W(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GACTTCGCACCGGCGCATCCA	0.637																																																	2	Substitution - Missense(2)	cervix(2)											18	23	21					7																	150069177		2166	4279	6445	SO:0001583	missense	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.847C>T	7.37:g.150069177C>T	ENSP00000388287:p.Arg283Trp		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R340W	ENST00000425389.2	37	c.1018	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216783	0.58452	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45013	0.1321	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.42310	-0.9459	9	0.72032	D	0.01	-14.2937	15.1881	0.73020	0.0:1.0:0.0:0.0	.	340;283	C9J3L7;Q9BWE0	.;REPI1_HUMAN	W	283;283;283;340;342;343;283	ENSP00000445016:R283W;ENSP00000380451:R283W;ENSP00000407714:R283W;ENSP00000417291:R340W;ENSP00000419789:R342W;ENSP00000419872:R343W;ENSP00000388287:R283W	ENSP00000380451:R283W	R	+	1	2	REPIN1	149700110	0.114000	0.22134	1.000000	0.80357	0.915000	0.54546	0.490000	0.22403	2.440000	0.82611	0.462000	0.41574	CGG	REPIN1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	C	NM_014374		150069177	1	no_errors	ENST00000489432	ensembl	human	known	70_37	missense	SNP	0.994	T	T	150069177	C	T	150069177	3	4	2	1	0	0	0	0	1	0	0	0	13257	643	23	2	1024	2	REPIN1	7	150069177	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	48224230	150069177	9069486	54	157										
MLL3	58508	genome.wustl.edu	37	chr7	151970952	151970952	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gtgcttacaaaatgcacatcGctgaaaggggtaaaggagag	13	6	0	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr7:151970952G>A	ENST00000262189.6	-	7	1068	c.850C>T	c.(850-852)Cga>Tga	p.R284*	KMT2C_ENST00000355193.2_Splice_Site_p.R284*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	284					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R284*(2)									AATGCACATCGCTGAAAGGGG	0.393																																																	2	Substitution - Nonsense(2)	cervix(2)											52	50	51					7																	151970952		2202	4298	6500	SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.850-1C>T	7.37:g.151970952G>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R284*	ENST00000262189.6	37	c.850	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.161137	0.98103	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.87	3.99	0.46301	.	0.258206	0.20689	N	0.087494	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.728	0.34480	0.0767:0.0:0.7747:0.1486	.	.	.	.	X	284	.	ENSP00000262189:R284X	R	-	1	2	MLL3	151601885	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.406000	0.59748	1.203000	0.43233	-0.127000	0.14921	CGA	MLL3	-	smart_Znf_PHD		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G		Nonsense_Mutation	151970952	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151970952	G	A	151970952	5	1	2	1	0	0	0	0	0	0	1	0	9645	1101	38	2	14097	2	MLL3	7	151970952	Splice_Site	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	1901775	151970952	7167711	55	158										
RP1L1	94137	genome.wustl.edu	37	chr8	10480214	10480214	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctgtgactgagaaccactgtCtgctggaggcgagggtccat	14	10	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr8:10480214C>T	ENST00000382483.3	-	2	721	c.498G>A	c.(496-498)caG>caA	p.Q166Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	166	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.Q166Q(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAACCACTGTCTGCTGGAGGC	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											106	102	103					8																	10480214		1962	4149	6111	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.498G>A	8.37:g.10480214C>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q166	ENST00000382483.3	37	c.498	CCDS43708.1	8																																																																																			RP1L1	-	superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.562	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	C			10480214	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	silent	SNP	0.180	T	T	10480214	C	T	10480214	2	4	2	1	0	0	0	0	0	0	0	1	13563	912	32	1		1	RP1L1	8	10480214	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		10480214	135883808	56	159										
VPS13B	157680	genome.wustl.edu	37	chr8	100155380	100155380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	catgaatatgaaccatatagCaggctaaaatcaggtttgtt	8	6	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr8:100155380C>T	ENST00000358544.2	+	13	1941	c.1830C>T	c.(1828-1830)agC>agT	p.S610S	VPS13B_ENST00000357162.2_Silent_p.S610S|VPS13B_ENST00000395996.1_Silent_p.S610S|VPS13B_ENST00000355155.1_Silent_p.S610S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	610					protein transport (GO:0015031)			p.S610S(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACCATATAGCAGGCTAAAAT	0.333																																					Colon(161;2205 2542 7338 31318)												2	Substitution - coding silent(2)	cervix(2)											146	148	147					8																	100155380		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1830C>T	8.37:g.100155380C>T			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.S610	ENST00000358544.2	37	c.1830	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100155380	1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.126	T	T	100155380	C	T	100155380	2	4	2	1	0	0	0	0	0	0	0	1	17221	709	25	4		4	VPS13B	8	100155380	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	89675166	100155380	46208642	57	160										
FREM1	158326	genome.wustl.edu	37	chr9	14750127	14750127	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgaggatcaaaagaatacctCcttttgagtccaaaattttc	6	8	1	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr9:14750127C>G	ENST00000380880.3	-	30	6338	c.5555G>C	c.(5554-5556)gGa>gCa	p.G1852A	FREM1_ENST00000380894.1_Missense_Mutation_p.G388A|FREM1_ENST00000380881.4_Missense_Mutation_p.G1853A|FREM1_ENST00000422223.2_Missense_Mutation_p.G1852A|FREM1_ENST00000486223.1_5'Flank			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1852					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.G1853A(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGAATACCTCCTTTTGAGTC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											134	127	129					9																	14750127		1869	4102	5971	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5555G>C	9.37:g.14750127C>G	ENSP00000370262:p.Gly1852Ala		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.G1853A	ENST00000380880.3	37	c.5558	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780632	0.49891	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.51	5.51	0.81932	.	0.342533	0.32736	N	0.005716	T	0.25975	0.0633	L	0.38175	1.15	0.54753	D	0.999984	P;P	0.48503	0.741;0.911	B;B	0.42112	0.178;0.376	T	0.01162	-1.1432	10	0.36615	T	0.2	-8.4473	19.4167	0.94704	0.0:1.0:0.0:0.0	.	1852;388	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	A	1853;1852;388;1852	ENSP00000370263:G1853A;ENSP00000412940:G1852A;ENSP00000370278:G388A;ENSP00000370262:G1852A	ENSP00000370262:G1852A	G	-	2	0	FREM1	14740127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.552000	0.53705	2.588000	0.87417	0.563000	0.77884	GGA	FREM1	-	NULL		0.433	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	C	NM_144966		14750127	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	1.000	G	G	14750127	C	G	14750127	3	3	2	1	0	0	0	0	1	0	0	0	6062	855	30	1	1016	1	FREM1	9	14750127	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		14750127	126463304	58	161										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18777507	18777507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agcagcccgaggagctgcgcGacctctacagcaagcacctg	12	15	1	0	rs3004643		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr9:18777507G>A	ENST00000380548.4	+	19	3619	c.3280G>A	c.(3280-3282)Gac>Aac	p.D1094N		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1094						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGCTGCGCGACCTCTACAG	0.667																																																	0													15	19	18					9																	18777507		2073	4184	6257	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3280G>A	9.37:g.18777507G>A	ENSP00000369921:p.Asp1094Asn		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.D1094N	ENST00000380548.4	37	c.3280	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.511842	0.96402	.	.	ENSG00000178031	ENST00000380548	T	0.64260	-0.09	5.88	5.88	0.94601	.	0.063246	0.08080	U	1.000000	T	0.51652	0.1687	N	0.19112	0.55	0.80722	D	1	P	0.46020	0.871	B	0.33521	0.165	T	0.61811	-0.6986	10	0.72032	D	0.01	.	20.2366	0.98359	0.0:0.0:1.0:0.0	rs3004643;rs3004643	1094	Q8N6G6	ATL1_HUMAN	N	1094	ENSP00000369921:D1094N	ENSP00000369921:D1094N	D	+	1	0	ADAMTSL1	18767507	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.183000	0.77697	2.792000	0.96026	0.557000	0.71058	GAC	ADAMTSL1	-	NULL		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18777507	1	no_errors	ENST00000380548	ensembl	human	novel	70_37	missense	SNP	0.989	A	A	18777507	G	A	18777507	3	1	2	1	0	0	0	0	1	0	0	0	274	1058	37	1	3358	1	ADAMTSL1	9	18777507	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	4027380	18777507	122435924	59	162										
ZNF462	58499	genome.wustl.edu	37	chr9	109690314	109690314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aacctacagatgcagggactGtgttttcgaagctgtttcca	10	9	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr9:109690314G>T	ENST00000277225.5	+	3	4410	c.4121G>T	c.(4120-4122)tGt>tTt	p.C1374F	ZNF462_ENST00000457913.1_Missense_Mutation_p.C1374F|ZNF462_ENST00000441147.2_Missense_Mutation_p.C219F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1374					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C1374F(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCAGGGACTGTGTTTTCGAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											141	113	122					9																	109690314		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4121G>T	9.37:g.109690314G>T	ENSP00000277225:p.Cys1374Phe		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C1374F	ENST00000277225.5	37	c.4121	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967546	0.53507	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.20332	2.08;2.48;2.58;2.56	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	T	0.21449	-1.0245	10	0.87932	D	0	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	1374;1374	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	1374;1374;257;219	ENSP00000277225:C1374F;ENSP00000414570:C1374F;ENSP00000363818:C257F;ENSP00000397306:C219F	ENSP00000277225:C1374F	C	+	2	0	ZNF462	108730135	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.397000	0.97276	2.509000	0.84616	0.561000	0.74099	TGT	ZNF462	-	smart_Znf_C2H2-like		0.517	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	G	NM_021224		109690314	1	no_errors	ENST00000457913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109690314	G	T	109690314	3	4	2	1	0	0	0	0	1	0	0	0	17956	1377	48	4	4127	4	ZNF462	9	109690314	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	90912807	109690314	31523117	60	163										
BAT2L1	84726	genome.wustl.edu	37	chr9	134362661	134362661	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tcccagtcccaggagatcttCagctccttgcagcccttcag	8	16	3	1	rs368857240		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr9:134362661C>T	ENST00000357304.4	+	26	6019	c.5964C>T	c.(5962-5964)ttC>ttT	p.F1988F	PRRC2B_ENST00000458550.1_Silent_p.F1294F|PRRC2B_ENST00000405995.1_Silent_p.F1294F|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000372249.1_Silent_p.F85F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1988							poly(A) RNA binding (GO:0044822)	p.F1988F(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGAGATCTTCAGCTCCTTGC	0.612																																																	2	Substitution - coding silent(2)	cervix(2)						C		0,4054		0,0,2027	44	49	47		5964	4.3	1	9		47	2,8374		0,2,4186	no	coding-synonymous	PRRC2B	NM_013318.3		0,2,6213	TT,TC,CC		0.0239,0.0,0.0161		1988/2230	134362661	2,12428	2027	4188	6215	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5964C>T	9.37:g.134362661C>T			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	pfam_BAT2_N	p.F1988	ENST00000357304.4	37	c.5964	CCDS48044.1	9																																																																																			PRRC2B	-	NULL		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		C			134362661	1	no_errors	ENST00000357304	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134362661	C	T	134362661	2	4	2	1	0	0	0	0	0	0	0	1	1321	825	29	1		1	BAT2L1	9	134362661	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	24672347	134362661	6850770	61	164										
TUBB8	347688	genome.wustl.edu	37	chr10	93876	93876	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tactcctcccggatcttactGagcagaagggtacccatccc	8	15	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr10:93876G>A	ENST00000309812.4	-	4	518	c.456C>T	c.(454-456)ctC>ctT	p.L152L	TUBB8_ENST00000447903.2_Silent_p.L80L|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	152					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L152L(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATCTTACTGAGCAGAAGGG	0.592																																					Pancreas(192;2041 3010 9013 18103)												1	Substitution - coding silent(1)	cervix(1)											106	94	98					10																	93876		2203	4300	6503	SO:0001819	synonymous_variant	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.456C>T	10.37:g.93876G>A			Q5SQX9|Q8WZ78	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.L152	ENST00000309812.4	37	c.456	CCDS7051.1	10																																																																																			TUBB8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Alpha_tubulin		0.592	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	HGNC	protein_coding	OTTHUMT00000467795.1	G	NM_177987		93876	-1	no_errors	ENST00000328974	ensembl	human	known	70_37	silent	SNP	1.000	A	A	93876	G	A	93876	2	1	2	1	0	0	0	0	0	0	0	1	16792	1277	45	1		1	TUBB8	10	93876	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08		93876	135440871	62	165										
GPR158	57512	genome.wustl.edu	37	chr10	25464455	25464455	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aaggacggccggattcccctCgagagaggaccccgaagggg	16	12	0	1	rs368107656		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr10:25464455C>T	ENST00000376351.3	+	1	465	c.106C>T	c.(106-108)Cga>Tga	p.R36*	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	36					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R36*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGATTCCCCTCGAGAGAGGAC	0.682																																																	1	Substitution - Nonsense(1)	cervix(1)											23	29	27					10																	25464455		2191	4278	6469	SO:0001587	stop_gained	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.106C>T	10.37:g.25464455C>T	ENSP00000365529:p.Arg36*		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R36*	ENST00000376351.3	37	c.106	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.027365	0.98013	.	.	ENSG00000151025	ENST00000376351	.	.	.	4.72	0.0352	0.14187	.	0.628351	0.13060	N	0.416937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	8.589	0.33674	0.4222:0.4509:0.1269:0.0	.	.	.	.	X	36	.	ENSP00000365529:R36X	R	+	1	2	GPR158	25504461	0.011000	0.17503	0.889000	0.34880	0.928000	0.56348	0.185000	0.16958	0.166000	0.19597	0.467000	0.42956	CGA	GPR158	-	NULL		0.682	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	C	XM_166110		25464455	1	no_errors	ENST00000376351	ensembl	human	known	70_37	nonsense	SNP	0.042	T	T	25464455	C	T	25464455	4	4	2	1	0	0	0	0	0	1	0	0	6682	876	31	1	108	1	GPR158	10	25464455	Nonsense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	25370579	25464455	110070292	63	166										
PCDH15	65217	genome.wustl.edu	37	chr10	56138561	56138561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	catctctatccagaactcttCcggtgctgttcaggaaaagc	8	12	3	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr10:56138561C>T	ENST00000320301.6	-	4	693	c.299G>A	c.(298-300)gGa>gAa	p.G100E	PCDH15_ENST00000395433.1_Missense_Mutation_p.G78E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G100E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G100E|PCDH15_ENST00000373965.2_Missense_Mutation_p.G100E|PCDH15_ENST00000395445.1_Missense_Mutation_p.G100E|PCDH15_ENST00000373955.1_Missense_Mutation_p.G100E|PCDH15_ENST00000414778.1_Missense_Mutation_p.G105E|PCDH15_ENST00000395440.1_Missense_Mutation_p.G100E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G100E|PCDH15_ENST00000395446.1_Missense_Mutation_p.G100E|PCDH15_ENST00000395430.1_Missense_Mutation_p.G100E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G100E|PCDH15_ENST00000373957.3_Missense_Mutation_p.G78E|PCDH15_ENST00000395442.1_Missense_Mutation_p.G100E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G100E(2)|p.G105E(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGAACTCTTCCGGTGCTGTT	0.358										HNSCC(58;0.16)																																							4	Substitution - Missense(4)	cervix(4)											101	108	105					10																	56138561		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.299G>A	10.37:g.56138561C>T	ENSP00000322604:p.Gly100Glu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G100E	ENST00000320301.6	37	c.299	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691863	0.88735	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.56;0.61;0.54;0.53;0.57;0.76;0.64;0.32;0.43;0.51;0.45;0.44;0.44;0.51;0.64	5.5	5.5	0.81552	Cadherin (1);	.	.	.	.	T	0.69735	0.3144	L	0.36672	1.1	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.99;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;0.925;1.0;1.0;1.0;0.998	T	0.71862	-0.4464	9	0.72032	D	0.01	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	78;100;100;105;100;100;100;100;100;100;100;105;100;78;100	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	100;105;100;100;100;100;100;100;100;100;78;78;100;100;105;100;100	ENSP00000363076:G100E;ENSP00000410304:G105E;ENSP00000378826:G100E;ENSP00000378832:G100E;ENSP00000378833:G100E;ENSP00000378829:G100E;ENSP00000378827:G100E;ENSP00000378820:G100E;ENSP00000354950:G100E;ENSP00000378821:G78E;ENSP00000363068:G78E;ENSP00000322604:G100E;ENSP00000378818:G100E;ENSP00000412628:G100E;ENSP00000363066:G100E	ENSP00000322604:G100E	G	-	2	0	PCDH15	55808567	1.000000	0.71417	0.949000	0.38748	0.867000	0.49689	7.805000	0.86005	2.611000	0.88343	0.643000	0.83706	GGA	PCDH15	-	smart_Cadherin		0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		56138561	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56138561	C	T	56138561	3	4	2	1	0	0	0	0	1	0	0	0	11535	855	30	1	7332	1	PCDH15	10	56138561	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	30674106	56138561	79396186	64	167										
CWF19L1	55280	genome.wustl.edu	37	chr10	101996654	101996654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttccaacagctctatctgctGctcctgtgcctgggtaatga	9	12	2	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr10:101996654G>T	ENST00000354105.4	-	12	1413	c.1327C>A	c.(1327-1329)Cag>Aag	p.Q443K	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Intron|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	443							catalytic activity (GO:0003824)	p.Q443K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCTATCTGCTGCTCCTGTGCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											205	191	196					10																	101996654		2203	4300	6503	SO:0001583	missense	55280			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1327C>A	10.37:g.101996654G>T	ENSP00000326411:p.Gln443Lys		B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q443K	ENST00000354105.4	37	c.1327	CCDS7489.1	10	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010875	0.35511	.	.	ENSG00000095485	ENST00000354105	T	0.17691	2.26	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.38838	1.175	0.58432	D	0.999999	B;B	0.24882	0.094;0.113	B;B	0.26517	0.07;0.051	T	0.04140	-1.0974	10	0.29301	T	0.29	-9.8246	16.4131	0.83725	0.0:0.0:1.0:0.0	.	147;443	Q69YN2-2;Q69YN2	.;C19L1_HUMAN	K	443	ENSP00000326411:Q443K	ENSP00000326411:Q443K	Q	-	1	0	CWF19L1	101986644	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	9.471000	0.97696	2.471000	0.83476	0.655000	0.94253	CAG	CWF19L1	-	NULL		0.463	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding		G	NM_018294		101996654	-1	no_errors	ENST00000354105	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101996654	G	T	101996654	3	4	2	1	0	0	0	0	1	0	0	0	4076	1328	46	4	301	4	CWF19L1	10	101996654	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	45858093	101996654	33538093	65	168										
LRDD	79751	genome.wustl.edu	37	chr11	800182	800182	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agggcgtctgcgcccttcctCtgccgggcagcctcagcctc	12	18	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr11:800182C>T	ENST00000531214.1	-	0	0				PIDD_ENST00000411829.2_Silent_p.Q724Q|PIDD_ENST00000347755.5_Silent_p.Q741Q	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Q741Q(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCCCTTCCTCTGCCGGGCAG	0.697																																					Colon(93;848 1468 3270 23355 49636)												1	Substitution - coding silent(1)	cervix(1)											15	17	16					11																	800182		2190	4290	6480	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800182C>T	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.Q741	ENST00000531214.1	37	c.2223	CCDS7715.1	11																																																																																			PIDD	-	NULL		0.697	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000384124.1	C			800182	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	silent	SNP	1.000	T	T	800182	C	T	800182	1	4	2	0	1	0	0	0	0	0	0	0	8959	912	32	1		1	LRDD	11	800182	5'Flank	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		800182	134206334	66	169										
CCDC73	493860	genome.wustl.edu	37	chr11	32636423	32636423	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gcttaaggagatttcactttGattttcatcctgagaaacaa	7	7	2	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr11:32636423G>C	ENST00000335185.5	-	16	1484	c.1441C>G	c.(1441-1443)Caa>Gaa	p.Q481E	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	481								p.Q481E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATTTCACTTTGATTTTCATCC	0.323																																																	1	Substitution - Missense(1)	cervix(1)											82	78	79					11																	32636423		1817	4068	5885	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1441C>G	11.37:g.32636423G>C	ENSP00000335325:p.Gln481Glu		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.Q481E	ENST00000335185.5	37	c.1441	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890602	0.33348	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.55	5.55	0.83447	.	0.345611	0.24727	N	0.036099	T	0.46983	0.1421	L	0.43152	1.355	0.80722	D	1	B	0.32753	0.383	B	0.31442	0.13	T	0.38628	-0.9652	9	0.08381	T	0.77	.	14.9028	0.70692	0.0:0.1422:0.8577:0.0	.	481	Q6ZRK6	CCD73_HUMAN	E	481	.	ENSP00000335325:Q481E	Q	-	1	0	CCDC73	32592999	0.966000	0.33281	0.996000	0.52242	0.934000	0.57294	3.364000	0.52328	2.602000	0.87976	0.591000	0.81541	CAA	CCDC73	-	NULL		0.323	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	G	NM_001008391		32636423	-1	no_errors	ENST00000335185	ensembl	human	known	70_37	missense	SNP	0.822	C	C	32636423	G	C	32636423	3	2	2	1	0	0	0	0	1	0	0	0	2851	1299	45	1	1810	1	CCDC73	11	32636423	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	31836241	32636423	102370093	67	170										
CPSF7	79869	genome.wustl.edu	37	chr11	61178432	61178432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttctcagtggtgccggtcccGttctctatcccggtgtctct	10	14	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr11:61178432G>A	ENST00000394888.4	-	9	1571	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	CPSF7_ENST00000340437.4_Missense_Mutation_p.R510W|CPSF7_ENST00000439958.3_Missense_Mutation_p.R458W|CPSF7_ENST00000448745.1_Missense_Mutation_p.R458W	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	467	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R467W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TGCCGGTCCCGTTCTCTATCC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											110	118	115					11																	61178432		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1399C>T	11.37:g.61178432G>A	ENSP00000378352:p.Arg467Trp		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R510W	ENST00000394888.4	37	c.1528	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677259	0.68042	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.42	4.45	0.53987	.	0.069700	0.53938	D	0.000046	T	0.33000	0.0848	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.994	T	0.00939	-1.1507	10	0.40728	T	0.16	-3.4289	13.3185	0.60421	0.0:0.0:0.7671:0.2329	.	467;510;458	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	W	510;467;458;458;233	ENSP00000345412:R510W;ENSP00000378352:R467W;ENSP00000397203:R458W;ENSP00000407394:R458W	ENSP00000345412:R510W	R	-	1	2	CPSF7	60935008	0.996000	0.38824	0.998000	0.56505	0.999000	0.98932	2.316000	0.43761	2.542000	0.85734	0.655000	0.94253	CGG	CPSF7	-	NULL		0.483	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	G	NM_024811		61178432	-1	no_errors	ENST00000340437	ensembl	human	known	70_37	missense	SNP	0.968	A	A	61178432	G	A	61178432	3	1	2	1	0	0	0	0	1	0	0	0	3835	1144	40	2	20	2	CPSF7	11	61178432	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	28542009	61178432	73828084	68	171										
CARNS1	57571	genome.wustl.edu	37	chr11	67186395	67186395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgccacctactttttggcagGcctgggcctggggcctggcc	14	14	0	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr11:67186395G>T	ENST00000307823.3	+	4	616	c.164G>T	c.(163-165)gGc>gTc	p.G55V	CARNS1_ENST00000531040.1_Missense_Mutation_p.G178V|CARNS1_ENST00000445895.2_Missense_Mutation_p.G178V|CARNS1_ENST00000423745.2_Missense_Mutation_p.G55V	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	55					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TTTTTGGCAGGCCTGGGCCTG	0.682																																																	0																																										SO:0001583	missense	57571				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.164G>T	11.37:g.67186395G>T	ENSP00000308268:p.Gly55Val		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp	p.G178V	ENST00000307823.3	37	c.533	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	G	7.762	0.705543	0.15172	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.33865	1.39;1.51;1.51;1.4	4.06	2.91	0.33838	.	.	.	.	.	T	0.15912	0.0383	N	0.14661	0.345	0.49483	D	0.999799	P;B;P	0.36535	0.557;0.421;0.557	B;B;B	0.31101	0.124;0.086;0.124	T	0.05435	-1.0885	9	0.32370	T	0.25	.	3.9752	0.09472	0.3853:0.0:0.6147:0.0	.	178;55;194	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	V	178;55;178;194;55;178	ENSP00000431670:G178V;ENSP00000308268:G55V;ENSP00000401519:G55V;ENSP00000389009:G178V	ENSP00000308268:G55V	G	+	2	0	CARNS1	66942971	0.999000	0.42202	0.992000	0.48379	0.133000	0.20885	2.232000	0.43018	0.878000	0.35920	0.561000	0.74099	GGC	CARNS1	-	NULL		0.682	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	G	NM_020811		67186395	1	no_errors	ENST00000445895	ensembl	human	known	70_37	missense	SNP	0.904	T	T	67186395	G	T	67186395	3	4	2	1	0	0	0	0	1	0	0	0	2661	1203	42	4	547	4	CARNS1	11	67186395	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	6007963	67186395	67820121	69	172										
TYR	7299	genome.wustl.edu	37	chr11	88911391	88911391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttttataataggacctgccaGtgctctggcaacttcatggg	10	9	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr11:88911391G>A	ENST00000263321.5	+	1	772	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	90					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q90Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GGACCTGCCAGTGCTCTGGCA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											47	48	48					11																	88911391		2201	4299	6500	SO:0001819	synonymous_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.270G>A	11.37:g.88911391G>A			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.Q90	ENST00000263321.5	37	c.270	CCDS8284.1	11																																																																																			TYR	-	superfamily_Unchr_di-copper_centre		0.498	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	G	NM_000372		88911391	1	no_errors	ENST00000263321	ensembl	human	known	70_37	silent	SNP	0.968	A	A	88911391	G	A	88911391	2	1	2	1	0	0	0	0	0	0	0	1	16844	1020	36	4		4	TYR	11	88911391	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	21724996	88911391	46095125	70	173										
HTR3A	3359	genome.wustl.edu	37	chr11	113848497	113848497	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctgttctccttcccagccagGaggagccgaaacaccaccag	9	16	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr11:113848497G>A	ENST00000504030.2	+	2	517	c.72G>A	c.(70-72)agG>agA	p.R24R	HTR3A_ENST00000355556.2_Silent_p.R30R|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.R30R|HTR3A_ENST00000299961.5_Silent_p.R9R|HTR3A_ENST00000506841.2_Silent_p.R24R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	24					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R24R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCCCAGCCAGGAGGAGCCGAA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											52	44	47					11																	113848497		2201	4296	6497	SO:0001819	synonymous_variant	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.72G>A	11.37:g.113848497G>A			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R30	ENST00000504030.2	37	c.90		11																																																																																			HTR3A	-	tigrfam_Neur_channel		0.567	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	G	NM_000869		113848497	1	no_errors	ENST00000355556	ensembl	human	known	70_37	silent	SNP	0.001	A	A	113848497	G	A	113848497	2	1	2	1	0	0	0	0	0	0	0	1	7464	1165	41	1		1	HTR3A	11	113848497	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	24937106	113848497	21158019	71	174										
ERP27	121506	genome.wustl.edu	37	chr12	15090933	15090933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agtggcagcaatgaattccaTggcagctgggacatctgtga	13	8	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr12:15090933T>C	ENST00000266397.2	-	2	721	c.148A>G	c.(148-150)Atg>Gtg	p.M50V		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	50	Thioredoxin.					endoplasmic reticulum (GO:0005783)		p.M50V(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATGAATTCCATGGCAGCTGGG	0.522																																																	1	Substitution - Missense(1)	cervix(1)											101	104	103					12																	15090933		2203	4300	6503	SO:0001583	missense	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.148A>G	12.37:g.15090933T>C	ENSP00000266397:p.Met50Val			Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.M50V	ENST00000266397.2	37	c.148	CCDS8670.1	12	.	.	.	.	.	.	.	.	.	.	T	9.481	1.098270	0.20552	.	.	ENSG00000139055	ENST00000266397	T	0.21191	2.02	4.87	0.555	0.17247	Thioredoxin-like fold (2);	0.485095	0.22680	N	0.056946	T	0.09202	0.0227	N	0.08118	0	0.43803	D	0.996354	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.40728	T	0.16	-2.2427	7.4795	0.27395	0.0:0.3663:0.0:0.6337	.	50	Q96DN0	ERP27_HUMAN	V	50	ENSP00000266397:M50V	ENSP00000266397:M50V	M	-	1	0	ERP27	14982200	0.000000	0.05858	0.968000	0.41197	0.689000	0.40095	-0.322000	0.08007	0.056000	0.16144	-0.441000	0.05720	ATG	ERP27	-	superfamily_Thioredoxin-like_fold		0.522	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	T	NM_152321		15090933	-1	no_errors	ENST00000266397	ensembl	human	known	70_37	missense	SNP	0.701	C	C	15090933	T	C	15090933	3	2	2	1	0	0	0	0	1	0	0	0	5253	1464	51	5	697	5	ERP27	12	15090933	Missense_Mutation	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08		15090933	118760962	72	175										
CNTN1	1272	genome.wustl.edu	37	chr12	41337930	41337930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tccttcaatggctatgtgatCgattttaacaaagagaatat	7	6	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr12:41337930C>T	ENST00000551295.2	+	14	1758	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	CNTN1_ENST00000347616.1_Silent_p.I547I|CNTN1_ENST00000348761.2_Silent_p.I536I|CNTN1_ENST00000547702.1_Silent_p.I547I|CNTN1_ENST00000360099.3_Silent_p.I547I|CNTN1_ENST00000547849.1_Silent_p.I547I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	547	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.I547I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCTATGTGATCGATTTTAACA	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											127	105	112					12																	41337930		2203	4299	6502	SO:0001819	synonymous_variant	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1641C>T	12.37:g.41337930C>T			A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I547	ENST00000551295.2	37	c.1641	CCDS8737.1	12																																																																																			CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	C	NM_001843		41337930	1	no_errors	ENST00000347616	ensembl	human	known	70_37	silent	SNP	0.296	T	T	41337930	C	T	41337930	2	4	2	1	0	0	0	0	0	0	0	1	3645	874	31	1		1	CNTN1	12	41337930	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	26246997	41337930	92513965	73	176										
LLPH	84298	genome.wustl.edu	37	chr12	66517664	66517664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tttcactgcttttgctttgcTtttcccctttcttttctctc	3	13	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr12:66517664T>G	ENST00000266604.2	-	3	416	c.346A>C	c.(346-348)Agc>Cgc	p.S116R	LLPH_ENST00000446587.2_Missense_Mutation_p.S116R	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	116	Lys-rich.						poly(A) RNA binding (GO:0044822)	p.S116G(1)|p.S116R(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTGCTTTGCTTTTCCCCTTT	0.428																																																	2	Substitution - Missense(2)	cervix(1)|kidney(1)											271	237	248					12																	66517664		2203	4300	6503	SO:0001583	missense	84298			AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"human LAPS18-like protein"		"chromosome 12 open reading frame 31"	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.346A>C	12.37:g.66517664T>G	ENSP00000266604:p.Ser116Arg		Q3B766	Missense_Mutation	SNP	pfam_LAPS18-like	p.S116R	ENST00000266604.2	37	c.346	CCDS8974.1	12	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509475	0.27036	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.56	3.39	0.38822	.	0.558072	0.20800	N	0.085444	T	0.42494	0.1205	M	0.63428	1.95	0.29387	N	0.862887	B	0.19935	0.04	B	0.22601	0.04	T	0.36841	-0.9731	8	.	.	.	-19.2668	8.8298	0.35076	0.0:0.0966:0.0:0.9034	.	116	Q9BRT6	LLPH_HUMAN	R	116	.	.	S	-	1	0	LLPH	64803931	1.000000	0.71417	0.991000	0.47740	0.438000	0.31896	1.824000	0.39072	0.859000	0.35456	0.528000	0.53228	AGC	LLPH	-	pfam_LAPS18-like		0.428	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLPH	HGNC	protein_coding	OTTHUMT00000401752.1	T	NM_032338		66517664	-1	no_errors	ENST00000266604	ensembl	human	known	70_37	missense	SNP	0.785	G	G	66517664	T	G	66517664	3	3	2	1	0	0	0	0	1	0	0	0	8856	1609	56	5	47	5	LLPH	12	66517664	Missense_Mutation	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08	25179734	66517664	67334231	74	177										
MYF5	4617	genome.wustl.edu	37	chr12	81112734	81112734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gagcaacctgggttgcctctCcaggatctggcttctctctc	10	14	4	0	rs533956404	byFrequency	TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr12:81112734C>T	ENST00000228644.3	+	3	824	c.672C>T	c.(670-672)ctC>ctT	p.L224L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	224					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.L224L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTTGCCTCTCCAGGATCTGG	0.493																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											105	100	102					12																	81112734		2203	4300	6503	SO:0001819	synonymous_variant	4617				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.672C>T	12.37:g.81112734C>T			Q6ISR9	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.L224	ENST00000228644.3	37	c.672	CCDS9020.1	12																																																																																			MYF5	-	NULL		0.493	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	C	NM_005593		81112734	1	no_errors	ENST00000228644	ensembl	human	known	70_37	silent	SNP	0.989	T	T	81112734	C	T	81112734	2	4	2	1	0	0	0	0	0	0	0	1	10050	842	30	1		1	MYF5	12	81112734	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	14595070	81112734	52739161	75	178										
ELK3	2004	genome.wustl.edu	37	chr12	96641178	96641178	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gtccgtctcggccaagatctCctctttaatgttgccaaacg	8	13	3	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr12:96641178C>G	ENST00000228741.3	+	3	994	c.668C>G	c.(667-669)tCc>tGc	p.S223C	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	223					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S223C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCCAAGATCTCCTCTTTAATG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											67	75	73					12																	96641178		2203	4300	6503	SO:0001583	missense	2004			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.668C>G	12.37:g.96641178C>G	ENSP00000228741:p.Ser223Cys		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.S223C	ENST00000228741.3	37	c.668	CCDS9060.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405325	0.83230	.	.	ENSG00000111145	ENST00000228741	T	0.32753	1.44	5.55	5.55	0.83447	.	0.052693	0.85682	D	0.000000	T	0.53514	0.1801	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.51505	-0.8697	10	0.59425	D	0.04	.	19.5045	0.95110	0.0:1.0:0.0:0.0	.	223	P41970	ELK3_HUMAN	C	223	ENSP00000228741:S223C	ENSP00000228741:S223C	S	+	2	0	ELK3	95165309	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.197000	0.65141	2.623000	0.88846	0.462000	0.41574	TCC	ELK3	-	NULL		0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK3	HGNC	protein_coding	OTTHUMT00000408694.1	C	NM_005230		96641178	1	no_errors	ENST00000228741	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96641178	C	G	96641178	3	3	2	1	0	0	0	0	1	0	0	0	5072	855	30	1	674	1	ELK3	12	96641178	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	15528444	96641178	37210717	76	179										
HSPB8	26353	genome.wustl.edu	37	chr12	119617367	119617367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccaggtttggggtgcctgccGagggcaggacccccccaccc	14	17	0	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr12:119617367G>A	ENST00000281938.2	+	1	921	c.250G>A	c.(250-252)Gag>Aag	p.E84K	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	84					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.E84K(2)|p.E84*(2)|p.E84Q(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCCTGCCGAGGGCAGGAC	0.657																																																	6	Substitution - Missense(4)|Substitution - Nonsense(2)	lung(4)|cervix(2)											28	33	31					12																	119617367		2203	4300	6503	SO:0001583	missense	26353			AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.250G>A	12.37:g.119617367G>A	ENSP00000281938:p.Glu84Lys		B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom	p.E84K	ENST00000281938.2	37	c.250	CCDS9189.1	12	.	.	.	.	.	.	.	.	.	.	G	4.458	0.084805	0.08583	.	.	ENSG00000152137	ENST00000281938	D	0.86497	-2.13	4.42	3.52	0.40303	Heat shock protein Hsp20 (1);HSP20-like chaperone (1);	0.883630	0.10103	N	0.715698	D	0.83723	0.5316	L	0.47716	1.5	0.35476	D	0.797745	B	0.20261	0.043	B	0.17098	0.017	T	0.77943	-0.2398	9	.	.	.	.	14.4682	0.67497	0.0:0.1479:0.8521:0.0	.	84	Q9UJY1	HSPB8_HUMAN	K	84	ENSP00000281938:E84K	.	E	+	1	0	HSPB8	118101750	1.000000	0.71417	0.575000	0.28536	0.126000	0.20510	4.967000	0.63722	1.066000	0.40716	0.563000	0.77884	GAG	HSPB8	-	superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom		0.657	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB8	HGNC	protein_coding	OTTHUMT00000401647.1	G	NM_014365		119617367	1	no_errors	ENST00000281938	ensembl	human	known	70_37	missense	SNP	0.944	A	A	119617367	G	A	119617367	3	1	2	1	0	0	0	0	1	0	0	0	7443	1059	37	1	252	1	HSPB8	12	119617367	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	22976189	119617367	14234528	77	180										
BRCA2	675	genome.wustl.edu	37	chr13	32912060	32912060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aaggtacagttgaaattaaaCggaagtttgctggcctgttg	12	5	0	1	rs80359390|rs80358604		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr13:32912060C>T	ENST00000380152.3	+	11	3801	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W	BRCA2_ENST00000544455.1_Missense_Mutation_p.R1190W			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1190					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R1190W(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGAAATTAAACGGAAGTTTGC	0.403			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(2)	cervix(2)											86	89	88					13																	32912060		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3568C>T	13.37:g.32912060C>T	ENSP00000369497:p.Arg1190Trp		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.R1190W	ENST00000380152.3	37	c.3568	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442413	0.25987	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00730	5.77;5.77	5.99	5.99	0.97316	.	0.282561	0.30830	N	0.008790	T	0.00496	0.0016	N	0.08118	0	0.09310	N	0.999995	P	0.46327	0.876	B	0.32805	0.153	T	0.60757	-0.7200	10	0.87932	D	0	.	9.4215	0.38555	0.0:0.7354:0.1877:0.0768	.	1190	P51587	BRCA2_HUMAN	W	1190	ENSP00000369497:R1190W;ENSP00000439902:R1190W	ENSP00000369497:R1190W	R	+	1	2	BRCA2	31810060	1.000000	0.71417	0.029000	0.17559	0.027000	0.11550	2.284000	0.43478	2.840000	0.97914	0.655000	0.94253	CGG	BRCA2	-	pirsf_BRCA2		0.403	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	C	NM_000059		32912060	1	no_errors	ENST00000380152	ensembl	human	known	70_37	missense	SNP	0.293	T	T	32912060	C	T	32912060	3	4	2	1	0	0	0	0	1	0	0	0	1502	527	19	2	3606	2	BRCA2	13	32912060	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		32912060	82257818	78	181										
TMTC4	84899	genome.wustl.edu	37	chr13	101257341	101257341	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gtggggtcaagctgcaaggaGatttcatagtgtttcttggc	14	6	3	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr13:101257341G>A	ENST00000376234.3	-	18	2322	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	TMTC4_ENST00000342624.5_Silent_p.I730I|TMTC4_ENST00000328767.5_Silent_p.I600I	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	711						integral component of membrane (GO:0016021)		p.I730I(2)|p.I730M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCAAGGAGATTTCATAGT	0.433																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	cervix(1)|large_intestine(1)|lung(1)											273	241	252					13																	101257341		2203	4300	6503	SO:0001819	synonymous_variant	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2133C>T	13.37:g.101257341G>A			A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I730	ENST00000376234.3	37	c.2190	CCDS41904.1	13																																																																																			TMTC4	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	G	NM_032813		101257341	-1	no_errors	ENST00000342624	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101257341	G	A	101257341	2	1	2	1	0	0	0	0	0	0	0	1	16293	932	33	1		1	TMTC4	13	101257341	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	68345281	101257341	13912537	79	182										
ZNF770	54989	genome.wustl.edu	37	chr15	35274379	35274379	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tctgtcgtaaggatgcctttCaaattttttcccatattttg	6	8	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr15:35274379C>T	ENST00000356321.4	-	3	1601	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	419					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L419L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GGATGCCTTTCAAATTTTTTC	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											63	67	66					15																	35274379		2201	4297	6498	SO:0001819	synonymous_variant	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1257G>A	15.37:g.35274379C>T			Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L419	ENST00000356321.4	37	c.1257	CCDS10042.1	15																																																																																			ZNF770	-	NULL		0.328	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	C	NM_014106		35274379	-1	no_errors	ENST00000356321	ensembl	human	known	70_37	silent	SNP	0.743	T	T	35274379	C	T	35274379	2	4	2	1	0	0	0	0	0	0	0	1	18173	825	29	1		1	ZNF770	15	35274379	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		35274379	67257013	80	183										
FBN1	2200	genome.wustl.edu	37	chr15	48736764	48736764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	acttctcattttgaagactgTatccaggtgggcaaatgcat	9	8	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr15:48736764T>C	ENST00000316623.5	-	49	6466	c.6011A>G	c.(6010-6012)tAc>tGc	p.Y2004C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2004	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Y2004C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGAAGACTGTATCCAGGTGG	0.428																																																	1	Substitution - Missense(1)	cervix(1)											155	142	147					15																	48736764		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6011A>G	15.37:g.48736764T>C	ENSP00000325527:p.Tyr2004Cys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.Y2004C	ENST00000316623.5	37	c.6011	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735630	0.89482	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.95656	-3.77	6.07	6.07	0.98685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	H	0.97186	3.955	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	D	0.99541	1.0963	10	0.87932	D	0	.	16.3021	0.82825	0.0:0.0:0.0:1.0	.	2004	P35555	FBN1_HUMAN	C	2004;572;894	ENSP00000325527:Y2004C	ENSP00000325527:Y2004C	Y	-	2	0	FBN1	46524056	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.555000	0.82223	2.326000	0.78906	0.533000	0.62120	TAC	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	T			48736764	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48736764	T	C	48736764	3	2	2	1	0	0	0	0	1	0	0	0	5720	1638	57	5	2676	5	FBN1	15	48736764	Missense_Mutation	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08	13462385	48736764	53794628	81	184										
FBN1	2200	genome.wustl.edu	37	chr15	48826336	48826336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cagggcatttgcactcaaaaGacccaacagtattaatgcaa	7	10	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr15:48826336G>A	ENST00000316623.5	-	8	1258	c.803C>T	c.(802-804)tCt>tTt	p.S268F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	268	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S268F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCACTCAAAAGACCCAACAGT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											243	252	249					15																	48826336		2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.803C>T	15.37:g.48826336G>A	ENSP00000325527:p.Ser268Phe		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.S268F	ENST00000316623.5	37	c.803	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941440	0.92526	.	.	ENSG00000166147	ENST00000316623	D	0.95412	-3.7	5.4	5.4	0.78164	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99110	1.0846	10	0.87932	D	0	.	19.5281	0.95214	0.0:0.0:1.0:0.0	.	268	P35555	FBN1_HUMAN	F	268	ENSP00000325527:S268F	ENSP00000325527:S268F	S	-	2	0	FBN1	46613628	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.696000	0.92011	0.655000	0.94253	TCT	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	G			48826336	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48826336	G	A	48826336	3	1	2	1	0	0	0	0	1	0	0	0	5720	942	33	1	8048	1	FBN1	15	48826336	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	89572	48826336	53705056	82	185										
CACNA1H	8912	genome.wustl.edu	37	chr16	1254308	1254309	+	Frame_Shift_Ins	INS	-	-	G													0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ggcgggcacagcagagggcaINSgccccgggcgagccaggctg							TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr16:1254308_1254309insG	ENST00000348261.5	+	10	2549_2550	c.2301_2302insG	c.(2302-2304)gccfs	p.A768fs	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Frame_Shift_Ins_p.A768fs|CACNA1H_ENST00000565831.1_Frame_Shift_Ins_p.A768fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	768					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCAGAGGGCAGCCCCGGGCGA	0.708																																																	0																																										SO:0001589	frameshift_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2302dupG	16.37:g.1254309_1254309dupG	ENSP00000334198:p.Ala768fs		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.A767fs	ENST00000348261.5	37	c.2301_2302	CCDS45375.1	16																																																																																			CACNA1H	-	NULL		0.708	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	NM_001005407		1254309	1	no_errors	ENST00000348261	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.004	G	G	1254309	-	G	1254308	7	5	2	1	0	1	1	0	0	0	0	0	2550	175	7	0	2335	0	CACNA1H	16	1254308	Frame_Shift_Ins	INS	-	TCGA-BI-A0VS-01A-11D-A10S-08		1254308	89100445	83	186										
ZSCAN10	84891	genome.wustl.edu	37	chr16	3140073	3140073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ggcggcttctggtcctgggcGtgcgccagcaggtgctgcac	17	13	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr16:3140073G>A	ENST00000252463.2	-	5	1284	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	ZSCAN10_ENST00000575108.1_Silent_p.H60H|ZSCAN10_ENST00000538082.2_Silent_p.H317H|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	399					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H399H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGTCCTGGGCGTGCGCCAGCA	0.701																																																	1	Substitution - coding silent(1)	cervix(1)											10	13	12					16																	3140073		2129	4143	6272	SO:0001819	synonymous_variant	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1197C>T	16.37:g.3140073G>A			B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H399	ENST00000252463.2	37	c.1197	CCDS10493.1	16																																																																																			ZSCAN10	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.701	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	G	NM_032805		3140073	-1	no_errors	ENST00000252463	ensembl	human	known	70_37	silent	SNP	0.181	A	A	3140073	G	A	3140073	2	1	2	1	0	0	0	0	0	0	0	1	18257	1136	40	2		2	ZSCAN10	16	3140073	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	1885765	3140073	87214680	84	187										
GLIS2	84662	genome.wustl.edu	37	chr16	4385082	4385082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gtaaccagctctttgagctcCtgcaagacctggtggaccat	10	12	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr16:4385082C>T	ENST00000262366.3	+	6	1365	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Silent_p.L182L|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	182					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.L182L(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTTTGAGCTCCTGCAAGACCT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											69	75	73					16																	4385082		2197	4299	6496	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.544C>T	16.37:g.4385082C>T			B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L182	ENST00000262366.3	37	c.544	CCDS10511.1	16																																																																																			GLIS2	-	smart_Znf_C2H2-like		0.617	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4385082	1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4385082	C	T	4385082	2	4	2	1	0	0	0	0	0	0	0	1	6465	680	24	4		4	GLIS2	16	4385082	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	1245009	4385082	85969671	85	188										
PMM2	5373	genome.wustl.edu	37	chr16	8906893	8906893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tcctgatggatgggacaagaGatactgtctgcgacatgtgg	14	7	1	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr16:8906893G>A	ENST00000268261.4	+	7	635	c.569G>A	c.(568-570)aGa>aAa	p.R190K	PMM2_ENST00000537352.1_Missense_Mutation_p.R65K|PMM2_ENST00000569958.1_Missense_Mutation_p.R99K|PMM2_ENST00000539622.1_Missense_Mutation_p.R107K|PMM2_ENST00000566983.1_Missense_Mutation_p.R163K	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	190					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)	p.R190K(1)		breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						TGGGACAAGAGATACTGTCTG	0.458																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)												1	Substitution - Missense(1)	cervix(1)											149	130	136					16																	8906893		2197	4300	6497	SO:0001583	missense	5373			BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.569G>A	16.37:g.8906893G>A	ENSP00000268261:p.Arg190Lys		A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	p.R190K	ENST00000268261.4	37	c.569	CCDS10536.1	16	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750921	0.69533	.	.	ENSG00000140650	ENST00000268261;ENST00000539622;ENST00000537352	D;D;D	0.98400	-4.91;-4.91;-4.91	4.8	4.8	0.61643	HAD-like domain (2);	0.047044	0.85682	D	0.000000	D	0.98460	0.9487	M	0.79258	2.445	0.49213	D	0.999766	P;P;D	0.55605	0.89;0.845;0.972	P;P;P	0.60286	0.649;0.636;0.872	D	0.98905	1.0778	10	0.72032	D	0.01	.	12.3599	0.55197	0.0:0.17:0.83:0.0	.	43;107;190	B7Z922;F5H0W0;O15305	.;.;PMM2_HUMAN	K	190;107;65	ENSP00000268261:R190K;ENSP00000445879:R107K;ENSP00000438359:R65K	ENSP00000268261:R190K	R	+	2	0	PMM2	8814394	1.000000	0.71417	0.892000	0.35008	0.355000	0.29361	5.756000	0.68757	2.216000	0.71823	0.591000	0.81541	AGA	PMM2	-	pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB		0.458	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM2	HGNC	protein_coding	OTTHUMT00000251904.1	G	NM_000303		8906893	1	no_errors	ENST00000268261	ensembl	human	known	70_37	missense	SNP	0.992	A	A	8906893	G	A	8906893	3	1	2	1	0	0	0	0	1	0	0	0	12161	942	33	1	595	1	PMM2	16	8906893	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	4521811	8906893	81447860	86	189										
CDK10	8558	genome.wustl.edu	37	chr16	89757024	89757026	+	In_Frame_Del	DEL	AGA	AGA	-													0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gaaggtgcggatggacaaggAgaaggatggtgagcaggaaa							TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr16:89757024_89757026delAGA	ENST00000353379.7	+	3	267_269	c.224_226delAGA	c.(223-228)gagaag>gag	p.K76del	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_In_Frame_Del_p.K29del|CDK10_ENST00000505473.1_In_Frame_Del_p.K5del	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		ATGGACAAGGAGAAGGATGGTGA	0.542																																																	0																																										SO:0001651	inframe_deletion	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.224_226delAGA	16.37:g.89757024_89757026delAGA	ENSP00000338673:p.Lys76del		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	In_Frame_Del	DEL	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.K76in_frame_del	ENST00000353379.7	37	c.224_226	CCDS10984.2	16																																																																																			CDK10	-	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		0.542	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	AGA			89757026	1	no_errors	ENST00000353379	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	89757026	AGA	-	89757024	7	5	2	1	0	1	0	1	0	0	0	0	3130	304	11	0	234	0	CDK10	16	89757024	In_Frame_Del	DEL	AGA	TCGA-BI-A0VS-01A-11D-A10S-08	80850131	89757024	597729	87	190										
ABR	29	genome.wustl.edu	37	chr17	953339	953339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ccacgatctcattgttgtccTtgttgaccttggtcttgtca	8	11	3	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:953339T>G	ENST00000302538.5	-	16	1888	c.1742A>C	c.(1741-1743)aAg>aCg	p.K581T	ABR_ENST00000291107.2_Missense_Mutation_p.K544T|ABR_ENST00000574437.1_Missense_Mutation_p.K535T|ABR_ENST00000544583.2_Missense_Mutation_p.K535T|ABR_ENST00000536794.2_Missense_Mutation_p.K363T	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	581	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K581T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ATTGTTGTCCTTGTTGACCTT	0.572																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												1	Substitution - Missense(1)	cervix(1)											362	296	319					17																	953339		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1742A>C	17.37:g.953339T>G	ENSP00000303909:p.Lys581Thr		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.K581T	ENST00000302538.5	37	c.1742	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406429	0.83230	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.22539	1.98;1.99;1.95;3.21	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.57536	1.79	0.43808	D	0.996365	P;P;P	0.48294	0.775;0.9;0.908	P;P;P	0.54590	0.756;0.506;0.719	T	0.04029	-1.0983	10	0.48119	T	0.1	.	14.9742	0.71257	0.0:0.0:0.0:1.0	.	363;544;581	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	T	581;535;544;363	ENSP00000303909:K581T;ENSP00000442048:K535T;ENSP00000291107:K544T;ENSP00000437429:K363T	ENSP00000291107:K544T	K	-	2	0	ABR	900089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.219000	0.72231	2.224000	0.72417	0.533000	0.62120	AAG	ABR	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.572	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	T			953339	-1	no_errors	ENST00000302538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	953339	T	G	953339	3	3	2	1	0	0	0	0	1	0	0	0	99	1609	56	5	869	5	ABR	17	953339	Missense_Mutation	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08		953339	80241871	88	191										
TADA2A	6871	genome.wustl.edu	37	chr17	35830526	35830526	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gccagaacctacgatcacctCaagaagacacgggaggaaga	11	11	2	4			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:35830526C>G	ENST00000394395.2	+	13	1091	c.918C>G	c.(916-918)ctC>ctG	p.L306L	TADA2A_ENST00000225396.6_Silent_p.L306L|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	306					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.L306L(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ACGATCACCTCAAGAAGACAC	0.522																																																	2	Substitution - coding silent(2)	cervix(2)											126	120	122					17																	35830526		2203	4300	6503	SO:0001819	synonymous_variant	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.918C>G	17.37:g.35830526C>G			A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.L306	ENST00000394395.2	37	c.918	CCDS11319.1	17																																																																																			TADA2A	-	pirsf_Transcriptional_adaptor_2		0.522	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	C	NM_001488		35830526	1	no_errors	ENST00000225396	ensembl	human	known	70_37	silent	SNP	0.811	G	G	35830526	C	G	35830526	2	3	2	1	0	0	0	0	0	0	0	1	15540	813	29	1		1	TADA2A	17	35830526	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	34877187	35830526	45364684	89	192										
KRT35	3886	genome.wustl.edu	37	chr17	39633831	39633831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctcacactccagccgggcccGgacgtccagcagcacctggt	11	18	1	0	rs371011501		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:39633831G>A	ENST00000393989.1	-	6	1201	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	KRT35_ENST00000246639.2_Missense_Mutation_p.R357W	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	387	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R387W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGCCGGGCCCGGACGTCCAGC	0.607																																																	1	Substitution - Missense(1)	cervix(1)						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	68	68	68		1159	0.2	0.2	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT35	NM_002280.4	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	387/456	39633831	2,13004	2203	4300	6503	SO:0001583	missense	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1159C>T	17.37:g.39633831G>A	ENSP00000377558:p.Arg387Trp		O76012|Q92651	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R387W	ENST00000393989.1	37	c.1159	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108106	0.56291	2.27E-4	1.16E-4	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.89746	-2.56;-2.56	4.95	0.153	0.14897	Filament (1);	0.302795	0.24381	N	0.039007	D	0.92525	0.7626	M	0.71581	2.175	0.35581	D	0.806298	D	0.69078	0.997	D	0.69654	0.965	D	0.93976	0.7254	10	0.87932	D	0	.	13.8089	0.63250	0.0:0.0:0.2661:0.7338	.	387	Q92764	KRT35_HUMAN	W	357;387	ENSP00000246639:R357W;ENSP00000377558:R387W	ENSP00000246639:R357W	R	-	1	2	KRT35	36887357	1.000000	0.71417	0.182000	0.23118	0.426000	0.31534	4.267000	0.58877	0.243000	0.21327	0.563000	0.77884	CGG	KRT35	-	pfam_F		0.607	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		G	NM_002280		39633831	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	missense	SNP	0.880	A	A	39633831	G	A	39633831	3	1	2	1	0	0	0	0	1	0	0	0	8492	1115	39	2	216	2	KRT35	17	39633831	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	3803305	39633831	41561379	90	193										
C17orf53	78995	genome.wustl.edu	37	chr17	42222620	42222620	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ggaagaggagtttgaagatgAggtagggaagtgttgatgat	18	0	0	6			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:42222620A>C	ENST00000319977.4	+	2	290	c.53A>C	c.(52-54)gAg>gCg	p.E18A	C17orf53_ENST00000245382.6_Splice_Site_p.E18A|C17orf53_ENST00000585683.1_Splice_Site_p.E18A	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	18								p.E18A(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTTGAAGATGAGGTAGGGAAG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											224	206	212					17																	42222620		2203	4300	6503	SO:0001630	splice_region_variant	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.54+1A>C	17.37:g.42222620A>C			A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	NULL	p.E18A	ENST00000319977.4	37	c.53	CCDS11477.1	17	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432186	0.83776	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.62364	0.03;0.03	5.02	5.02	0.67125	.	0.119962	0.38111	N	0.001805	T	0.74635	0.3742	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.77327	-0.2629	10	0.87932	D	0	-22.8116	14.1559	0.65417	1.0:0.0:0.0:0.0	.	18;18;18	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	A	18	ENSP00000313500:E18A;ENSP00000245382:E18A	ENSP00000245382:E18A	E	+	2	0	C17orf53	39578146	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.340000	0.72973	2.244000	0.73946	0.533000	0.62120	GAG	C17orf53	-	NULL		0.433	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	A	NM_024032	Missense_Mutation	42222620	1	no_errors	ENST00000319977	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42222620	A	C	42222620	5	2	2	1	0	0	0	0	0	0	1	0	1866	318	11	5	59	5	C17orf53	17	42222620	Splice_Site	SNP	A	TCGA-BI-A0VS-01A-11D-A10S-08	2588789	42222620	38972590	91	194										
GRN	2896	genome.wustl.edu	37	chr17	42429607	42429607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gggagctgggcctgctgccaGttgccccatgtgagtgcctc	15	13	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:42429607G>C	ENST00000053867.3	+	11	1466	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	GRN_ENST00000589265.1_Missense_Mutation_p.Q311H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	468					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGCTGCCAGTTGCCCCATG	0.652																																																	0													31	33	32					17																	42429607		2202	4300	6502	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1404G>C	17.37:g.42429607G>C	ENSP00000053867:p.Gln468His		D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.Q468H	ENST00000053867.3	37	c.1404	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	G	17.60	3.431058	0.62844	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	D	0.82619	-1.63	5.3	5.3	0.74995	Granulin (2);	0.314038	0.27856	N	0.017568	D	0.85164	0.5634	L	0.38175	1.15	0.27403	N	0.954796	D;D	0.56968	0.971;0.978	D;D	0.64410	0.925;0.909	T	0.79188	-0.1906	10	0.66056	D	0.02	-7.4414	11.5336	0.50624	0.0:0.0:0.8211:0.1789	.	405;468	B4DJI2;P28799	.;GRN_HUMAN	H	468;288	ENSP00000053867:Q468H	ENSP00000053867:Q468H	Q	+	3	2	GRN	39785133	0.773000	0.28580	0.998000	0.56505	0.976000	0.68499	0.951000	0.29135	2.477000	0.83638	0.561000	0.74099	CAG	GRN	-	pfam_Granulin,smart_Granulin		0.652	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	G	NM_002087		42429607	1	no_errors	ENST00000053867	ensembl	human	known	70_37	missense	SNP	0.977	C	C	42429607	G	C	42429607	3	2	2	1	0	0	0	0	1	0	0	0	6824	1020	36	4	1442	4	GRN	17	42429607	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	206987	42429607	38765603	92	195										
SFRS1	6426	genome.wustl.edu	37	chr17	56084341	56084341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	caacgaaggcgaagggcggtCccccgcggcgattcttgagg	16	12	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:56084341C>T	ENST00000258962.4	-	1	366	c.158G>A	c.(157-159)gGa>gAa	p.G53E	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.G53E|SRSF1_ENST00000584773.1_Missense_Mutation_p.G53E|SRSF1_ENST00000585096.1_Missense_Mutation_p.G53E|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G53E(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGGGCGGTCCCCCGCGGCG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											119	108	112					17																	56084341		2203	4300	6503	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.158G>A	17.37:g.56084341C>T	ENSP00000258962:p.Gly53Glu		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G53E	ENST00000258962.4	37	c.158	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841505	0.51057	.	.	ENSG00000136450	ENST00000258962	T	0.06068	3.35	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	L	0.45352	1.415	0.80722	D	1	P;D	0.65815	0.567;0.995	P;P	0.61722	0.516;0.893	T	0.00007	-1.2502	10	0.56958	D	0.05	.	19.5057	0.95114	0.0:1.0:0.0:0.0	.	85;53	Q59FA2;Q07955	.;SRSF1_HUMAN	E	53	ENSP00000258962:G53E	ENSP00000258962:G53E	G	-	2	0	SRSF1	53439340	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.941000	0.75922	2.906000	0.99361	0.655000	0.94253	GGA	SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.587	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1	C	NM_006924		56084341	-1	no_errors	ENST00000258962	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56084341	C	T	56084341	3	4	2	1	0	0	0	0	1	0	0	0	14195	855	30	1	658	1	SFRS1	17	56084341	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	13654734	56084341	25110869	93	196										
DDX42	11325	genome.wustl.edu	37	chr17	61888467	61888467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agtgcaacttttcggaagaaGattgaaaagttggccagaga	12	5	0	4			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:61888467G>C	ENST00000578681.1	+	14	1933	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	DDX42_ENST00000583590.1_Missense_Mutation_p.K444N|DDX42_ENST00000359353.5_Missense_Mutation_p.K325N|DDX42_ENST00000457800.2_Missense_Mutation_p.K444N|DDX42_ENST00000389924.2_Missense_Mutation_p.K444N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	444	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K444N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCGGAAGAAGATTGAAAAGT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											81	75	77					17																	61888467		2203	4300	6503	SO:0001583	missense	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1332G>C	17.37:g.61888467G>C	ENSP00000464050:p.Lys444Asn		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K444N	ENST00000578681.1	37	c.1332	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427332	0.62733	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.14391	2.51;2.51	5.09	1.99	0.26369	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.105388	0.64402	D	0.000001	T	0.20861	0.0502	L	0.35487	1.065	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.01416	-1.1360	10	0.29301	T	0.29	-16.8781	9.6908	0.40127	0.2291:0.0:0.7709:0.0	.	444	Q86XP3	DDX42_HUMAN	N	444;444;180	ENSP00000374574:K444N;ENSP00000390121:K444N	ENSP00000352308:K180N	K	+	3	2	DDX42	59242199	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.797000	0.47877	0.744000	0.32741	-0.140000	0.14226	AAG	DDX42	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.403	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	G	NM_007372		61888467	1	no_errors	ENST00000389924	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61888467	G	C	61888467	3	2	2	1	0	0	0	0	1	0	0	0	4367	933	33	1	1378	1	DDX42	17	61888467	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	5804126	61888467	19306743	94	197										
TEX2	55852	genome.wustl.edu	37	chr17	62291274	62291274	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gggcaaaatggcaggggcctGggacacggacagtccatctg	16	10	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:62291274G>C	ENST00000583097.1	-	2	476	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	TEX2_ENST00000258991.3_Missense_Mutation_p.Q102E|TEX2_ENST00000584379.1_Missense_Mutation_p.Q102E			Q8IWB9	TEX2_HUMAN	testis expressed 2	102					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.Q102E(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCAGGGGCCTGGGACACGGAC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											105	110	108					17																	62291274		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.304C>G	17.37:g.62291274G>C	ENSP00000462665:p.Gln102Glu		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.Q102E	ENST00000583097.1	37	c.304		17	.	.	.	.	.	.	.	.	.	.	G	8.192	0.796177	0.16327	.	.	ENSG00000136478	ENST00000258991	T	0.41065	1.01	3.95	1.48	0.22813	.	0.581986	0.16532	N	0.210311	T	0.12817	0.0311	N	0.03608	-0.345	0.20873	N	0.999837	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29397	-1.0013	10	0.02654	T	1	-1.0279	2.3967	0.04392	0.4063:0.3293:0.2644:0.0	.	102;102	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	E	102	ENSP00000258991:Q102E	ENSP00000258991:Q102E	Q	-	1	0	TEX2	59645006	0.838000	0.29461	0.953000	0.39169	0.933000	0.57130	0.514000	0.22786	0.579000	0.29504	0.313000	0.20887	CAG	TEX2	-	NULL		0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	G	NM_018469		62291274	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	0.908	C	C	62291274	G	C	62291274	3	2	2	1	0	0	0	0	1	0	0	0	15811	1357	47	4	3144	4	TEX2	17	62291274	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	402807	62291274	18903936	95	198										
KPNA2	3838	genome.wustl.edu	37	chr17	66039427	66039427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tggcatggtggtgaaaacagGagttgtgccccaacttgtga	14	7	0	2			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:66039427G>T	ENST00000537025.2	+	7	1498	c.878G>T	c.(877-879)gGa>gTa	p.G293V	KPNA2_ENST00000330459.3_Missense_Mutation_p.G293V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	293					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.G293V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGAAAACAGGAGTTGTGCCC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											211	224	220					17																	66039427		2203	4300	6503	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.878G>T	17.37:g.66039427G>T	ENSP00000438483:p.Gly293Val		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.G293V	ENST00000537025.2	37	c.878	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856084	0.91355	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	D;D	0.83914	-1.78;-1.78	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	D	0.92580	0.7643	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93388	0.6749	10	0.87932	D	0	.	19.5266	0.95209	0.0:0.0:1.0:0.0	.	293	P52292	IMA2_HUMAN	V	293	ENSP00000332455:G293V;ENSP00000438483:G293V	ENSP00000332455:G293V	G	+	2	0	KPNA2	63469889	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.715000	0.98748	2.604000	0.88044	0.557000	0.71058	GGA	KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.413	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66039427	1	no_errors	ENST00000330459	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66039427	G	T	66039427	3	4	2	1	0	0	0	0	1	0	0	0	8450	1174	41	3	900	3	KPNA2	17	66039427	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	3748153	66039427	15155783	96	199										
CDC42EP4	23580	genome.wustl.edu	37	chr17	71282208	71282208	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tccccgtcattggccttcttCacggggctggatgacaggct	12	13	3	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:71282208C>T	ENST00000335793.3	-	2	826	c.432G>A	c.(430-432)gtG>gtA	p.V144V	CDC42EP4_ENST00000439510.2_Silent_p.V74V|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	144					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)	p.V144V(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGGCCTTCTTCACGGGGCTGG	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											48	48	48					17																	71282208		2203	4300	6503	SO:0001819	synonymous_variant	23580			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.432G>A	17.37:g.71282208C>T			B3KUS7|O95828|Q96FT3	Silent	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.V144	ENST00000335793.3	37	c.432	CCDS11695.1	17																																																																																			CDC42EP4	-	NULL		0.652	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	C	NM_012121		71282208	-1	no_errors	ENST00000335793	ensembl	human	known	70_37	silent	SNP	0.883	T	T	71282208	C	T	71282208	2	4	2	1	0	0	0	0	0	0	0	1	3083	813	29	1		1	CDC42EP4	17	71282208	Silent	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	5242781	71282208	9913002	97	200										
CDC42EP4	23580	genome.wustl.edu	37	chr17	71282253	71282253	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ggcagcttactggtgcccttCtccgcggcctccttctcatt	9	16	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:71282253C>G	ENST00000335793.3	-	2	781	c.387G>C	c.(385-387)gaG>gaC	p.E129D	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.E59D|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	129					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)	p.E129D(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGGTGCCCTTCTCCGCGGCCT	0.652																																																	1	Substitution - Missense(1)	cervix(1)											50	50	50					17																	71282253		2203	4300	6503	SO:0001583	missense	23580			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.387G>C	17.37:g.71282253C>G	ENSP00000338258:p.Glu129Asp		B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.E129D	ENST00000335793.3	37	c.387	CCDS11695.1	17	.	.	.	.	.	.	.	.	.	.	C	3.995	-0.003743	0.07773	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;D	0.85955	1.52;-2.05	4.88	2.5	0.30297	.	0.481200	0.20455	N	0.092013	T	0.75722	0.3888	L	0.51422	1.61	0.58432	D	0.999999	B;B	0.15141	0.012;0.003	B;B	0.18871	0.023;0.003	T	0.63382	-0.6650	10	0.16896	T	0.51	-28.9253	4.0492	0.09786	0.1308:0.5676:0.1282:0.1734	.	59;129	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	D	129;59	ENSP00000338258:E129D;ENSP00000404270:E59D	ENSP00000338258:E129D	E	-	3	2	CDC42EP4	68793848	0.995000	0.38212	0.994000	0.49952	0.113000	0.19764	0.587000	0.23909	1.065000	0.40693	0.484000	0.47621	GAG	CDC42EP4	-	NULL		0.652	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	C	NM_012121		71282253	-1	no_errors	ENST00000335793	ensembl	human	known	70_37	missense	SNP	0.724	G	G	71282253	C	G	71282253	3	3	2	1	0	0	0	0	1	0	0	0	3083	912	32	1	687	1	CDC42EP4	17	71282253	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	45	71282253	9912957	98	201										
SLC16A5	9121	genome.wustl.edu	37	chr17	73096514	73096514	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atgtggtccgtcctgggcttCccactgccacaagtcttcct	9	15	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:73096514C>G	ENST00000450736.2	+	4	1171	c.756C>G	c.(754-756)ttC>ttG	p.F252L	SLC16A5_ENST00000329783.4_Missense_Mutation_p.F252L|SLC16A5_ENST00000538213.2_Missense_Mutation_p.F292L|SLC16A5_ENST00000580123.1_Missense_Mutation_p.F252L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	252					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F252L(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607																																																	2	Substitution - Missense(2)	cervix(2)											304	246	266					17																	73096514		2203	4300	6503	SO:0001583	missense	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.756C>G	17.37:g.73096514C>G	ENSP00000390564:p.Phe252Leu		B4E288	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.F252L	ENST00000450736.2	37	c.756	CCDS11713.1	17	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.520739	0.00967	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.57907	0.37;0.37;0.37	4.64	0.32	0.15878	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047591	0.85682	N	0.000000	T	0.33556	0.0867	L	0.27975	0.815	0.26072	N	0.981201	B;P	0.34800	0.288;0.469	B;B	0.38954	0.221;0.286	T	0.35176	-0.9799	10	0.06757	T	0.87	.	8.9905	0.36022	0.0:0.5126:0.0:0.4874	.	292;252	B4E288;O15375	.;MOT6_HUMAN	L	252;252;292	ENSP00000330141:F252L;ENSP00000390564:F252L;ENSP00000440212:F292L	ENSP00000330141:F252L	F	+	3	2	SLC16A5	70608109	0.007000	0.16637	0.002000	0.10522	0.084000	0.17831	0.105000	0.15333	-0.075000	0.12798	-0.993000	0.02533	TTC	SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73096514	1	no_errors	ENST00000329783	ensembl	human	known	70_37	missense	SNP	0.333	G	G	73096514	C	G	73096514	3	3	2	1	0	0	0	0	1	0	0	0	14441	854	30	1	766	1	SLC16A5	17	73096514	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	1814261	73096514	8098696	99	202										
SLC16A5	9121	genome.wustl.edu	37	chr17	73096595	73096595	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gcagccctcctcatctccatCatcggcttcagcaacatctt	5	17	5	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr17:73096595C>G	ENST00000450736.2	+	4	1252	c.837C>G	c.(835-837)atC>atG	p.I279M	SLC16A5_ENST00000329783.4_Missense_Mutation_p.I279M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.I319M|SLC16A5_ENST00000580123.1_Missense_Mutation_p.I279M			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	279					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.I279M(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCATCTCCATCATCGGCTTCA	0.622																																																	2	Substitution - Missense(2)	cervix(2)											487	419	442					17																	73096595		2203	4300	6503	SO:0001583	missense	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.837C>G	17.37:g.73096595C>G	ENSP00000390564:p.Ile279Met		B4E288	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.I279M	ENST00000450736.2	37	c.837	CCDS11713.1	17	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490161	0.44249	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.61040	0.14;0.14;0.14	4.64	0.828	0.18841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.154096	0.56097	D	0.000023	T	0.57125	0.2032	M	0.79258	2.445	0.36733	D	0.881812	P;P	0.44309	0.693;0.832	B;B	0.42495	0.311;0.389	T	0.65837	-0.6071	10	0.62326	D	0.03	.	10.0912	0.42447	0.0:0.6423:0.0:0.3577	.	319;279	B4E288;O15375	.;MOT6_HUMAN	M	279;279;319	ENSP00000330141:I279M;ENSP00000390564:I279M;ENSP00000440212:I319M	ENSP00000330141:I279M	I	+	3	3	SLC16A5	70608190	0.968000	0.33430	0.820000	0.32676	0.947000	0.59692	0.794000	0.26958	0.274000	0.22072	0.561000	0.74099	ATC	SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.622	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73096595	1	no_errors	ENST00000329783	ensembl	human	known	70_37	missense	SNP	0.999	G	G	73096595	C	G	73096595	3	3	2	1	0	0	0	0	1	0	0	0	14441	816	29	1	847	1	SLC16A5	17	73096595	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	81	73096595	8098615	100	203										
PPP4R1	9989	genome.wustl.edu	37	chr18	9570273	9570273	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gggccctcagattcttcctcTggtccctctgggctgggttt	12	13	4	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr18:9570273T>C	ENST00000400556.3	-	11	1528	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	PPP4R1_ENST00000400555.3_Silent_p.P468P	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	485					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.P485P(1)		large_intestine(1)|skin(2)	3						ATTCTTCCTCTGGTCCCTCTG	0.483																																					Melanoma(188;1232 2082 5061 11948 35994)												1	Substitution - coding silent(1)	cervix(1)											85	79	81					18																	9570273		1829	4092	5921	SO:0001819	synonymous_variant	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1455A>G	18.37:g.9570273T>C			Q99774|Q9UNQ7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P485	ENST00000400556.3	37	c.1455	CCDS42412.1	18																																																																																			PPP4R1	-	superfamily_ARM-type_fold		0.483	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	T	NM_005134		9570273	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	silent	SNP	0.143	C	C	9570273	T	C	9570273	2	2	2	1	0	0	0	0	0	0	0	1	12430	1567	55	5		5	PPP4R1	18	9570273	Silent	SNP	T	TCGA-BI-A0VS-01A-11D-A10S-08		9570273	68506975	101	204										
PSMA8	143471	genome.wustl.edu	37	chr18	23758844	23758844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gttcgagaatttctagaaaaGaattacacagaagatgccat	8	6	1	5			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr18:23758844G>C	ENST00000308268.6	+	5	635	c.546G>C	c.(544-546)aaG>aaC	p.K182N	PSMA8_ENST00000415576.2_Missense_Mutation_p.K176N|PSMA8_ENST00000343848.6_Missense_Mutation_p.K138N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	182					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.K182N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TTCTAGAAAAGAATTACACAG	0.318																																																	1	Substitution - Missense(1)	cervix(1)											43	45	44					18																	23758844		2203	4297	6500	SO:0001583	missense	143471			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.546G>C	18.37:g.23758844G>C	ENSP00000311121:p.Lys182Asn		B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.K182N	ENST00000308268.6	37	c.546	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932287	0.52866	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	T;T;T	0.49139	0.79;0.79;0.79	5.67	0.111	0.14619	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	M	0.80982	2.52	0.53688	D	0.999976	P;D;P;B	0.61697	0.589;0.99;0.799;0.14	B;D;B;B	0.64776	0.221;0.929;0.411;0.23	T	0.64939	-0.6289	10	0.72032	D	0.01	-17.6661	10.1191	0.42609	0.4298:0.0:0.5702:0.0	.	150;182;176;138	F5GY34;Q8TAA3;Q8TAA3-5;Q8TAA3-2	.;PSA7L_HUMAN;.;.	N	182;176;138;150;138	ENSP00000311121:K182N;ENSP00000409284:K176N;ENSP00000345584:K138N	ENSP00000311121:K182N	K	+	3	2	PSMA8	22012842	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.920000	0.40025	0.062000	0.16340	0.650000	0.86243	AAG	PSMA8	-	pfam_Proteasome_sua/b		0.318	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	HGNC	protein_coding	OTTHUMT00000446255.1	G	NM_144662		23758844	1	no_errors	ENST00000308268	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23758844	G	C	23758844	3	2	2	1	0	0	0	0	1	0	0	0	12700	933	33	1	564	1	PSMA8	18	23758844	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	14188571	23758844	54318404	102	205										
PIK3C3	5289	genome.wustl.edu	37	chr18	39550410	39550410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ctcagaagatcagatgagccGtcttgccaaggtaaaaaaag	10	8	3	4	rs376188539		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr18:39550410G>A	ENST00000262039.4	+	4	607	c.521G>A	c.(520-522)cGt>cAt	p.R174H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R111H|PIK3C3_ENST00000586545.1_Missense_Mutation_p.R174H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	174	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R174H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGATGAGCCGTCTTGCCAAG	0.408										TSP Lung(28;0.18)			G|||	1	0.000199681	8e-04	0	5008	,	,		15988	0		0	False		,,,				2504	0				NSCLC(37;552 1060 2683 16430 37914)												1	Substitution - Missense(1)	cervix(1)						G	HIS/ARG	0,4406		0,0,2203	77	70	72		521	4.6	1	18		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C3	NM_002647.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	174/888	39550410	1,13005	2203	4300	6503	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.521G>A	18.37:g.39550410G>A	ENSP00000262039:p.Arg174His		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.R174H	ENST00000262039.4	37	c.521	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834693	0.91036	0.0	1.16E-4	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.79352	-1.26;-1.26	4.61	4.61	0.57282	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.969	D	0.92663	0.6143	9	.	.	.	.	17.8031	0.88593	0.0:0.0:1.0:0.0	.	111;174	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	174;111	ENSP00000262039:R174H;ENSP00000381845:R111H	.	R	+	2	0	PIK3C3	37804408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.775000	0.98995	2.257000	0.74773	0.557000	0.71058	CGT	PIK3C3	-	pfam_PI3K_C2_dom,pirsf_PI3K_Vps34		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	G	NM_002647		39550410	1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39550410	G	A	39550410	3	1	2	1	0	0	0	0	1	0	0	0	11936	1145	40	2	535	2	PIK3C3	18	39550410	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	15791566	39550410	38526838	103	206										
TMX3	54495	genome.wustl.edu	37	chr18	66344338	66344338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atataacctccatctgtgtcGgctgtgtagattccatagca	8	10	1	1	rs151168037		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr18:66344338G>A	ENST00000299608.2	-	16	1513	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	399					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.A399A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CATCTGTGTCGGCTGTGTAGA	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		17500	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)						G		4,4402	8.1+/-20.4	0,4,2199	160	148	152		1197	-11	0	18	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous	TMX3	NM_019022.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		399/455	66344338	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1197C>T	18.37:g.66344338G>A			B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.A399	ENST00000299608.2	37	c.1197	CCDS32840.1	18																																																																																			TMX3	-	NULL		0.438	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1	G	NM_019022		66344338	-1	no_errors	ENST00000299608	ensembl	human	known	70_37	silent	SNP	0.132	A	A	66344338	G	A	66344338	2	1	2	1	0	0	0	0	0	0	0	1	16298	1103	39	2		2	TMX3	18	66344338	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	26793928	66344338	11732910	104	207										
PNPLA6	10908	genome.wustl.edu	37	chr19	7619550	7619550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cctggaccgtgcgctgcctgCgacaggccgactgcatcctc	12	17	0	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:7619550C>T	ENST00000221249.6	+	24	2892	c.2461C>T	c.(2461-2463)Cga>Tga	p.R821*	PNPLA6_ENST00000600737.1_Nonsense_Mutation_p.R859*|PNPLA6_ENST00000450331.3_Nonsense_Mutation_p.R821*|PNPLA6_ENST00000545201.2_Nonsense_Mutation_p.R794*|PNPLA6_ENST00000414982.3_Nonsense_Mutation_p.R869*	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	860					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.R821*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGCTGCCTGCGACAGGCCGA	0.682																																																	1	Substitution - Nonsense(1)	cervix(1)											69	64	66					19																	7619550		2203	4298	6501	SO:0001587	stop_gained	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2461C>T	19.37:g.7619550C>T	ENSP00000221249:p.Arg821*		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Nonsense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R869*	ENST00000221249.6	37	c.2605	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	c	40	8.515295	0.98845	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	.	.	.	4.98	4.98	0.66077	.	0.058685	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8384	0.78818	0.0:1.0:0.0:0.0	.	.	.	.	X	821;794;869;821	.	ENSP00000221249:R821X	R	+	1	2	PNPLA6	7525550	1.000000	0.71417	0.988000	0.46212	0.024000	0.10985	7.508000	0.81686	2.591000	0.87537	0.555000	0.69702	CGA	PNPLA6	-	NULL		0.682	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	C	NM_006702		7619550	1	no_errors	ENST00000414982	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7619550	C	T	7619550	4	4	2	1	0	0	0	0	0	1	0	0	12193	760	27	2	2691	2	PNPLA6	19	7619550	Nonsense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		7619550	51509433	105	208										
NXNL1	115861	genome.wustl.edu	37	chr19	17566593	17566593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tggctcctggtcctccaggtCctctggcagctggaagttgc	13	13	1	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:17566593C>T	ENST00000301944.2	-	2	586	c.502G>A	c.(502-504)Gac>Aac	p.D168N	CTD-2521M24.11_ENST00000598950.1_lincRNA|CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.D75N|AC010319.1_ENST00000410873.1_RNA	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	168					photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D168N(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TCCTCCAGGTCCTCTGGCAGC	0.726																																																	1	Substitution - Missense(1)	cervix(1)											14	9	11					19																	17566593		2141	4221	6362	SO:0001583	missense	115861			BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"thioredoxin-like 6"	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.502G>A	19.37:g.17566593C>T	ENSP00000305631:p.Asp168Asn		Q0QD37	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.D168N	ENST00000301944.2	37	c.502	CCDS12360.1	19	.	.	.	.	.	.	.	.	.	.	c	19.20	3.781851	0.70222	.	.	ENSG00000171773	ENST00000301944	D	0.84944	-1.92	3.49	3.49	0.39957	.	0.446753	0.24039	U	0.042105	T	0.81460	0.4827	N	0.24115	0.695	0.41707	D	0.989434	D	0.59357	0.985	P	0.55055	0.767	T	0.81614	-0.0853	10	0.56958	D	0.05	-27.7191	8.0893	0.30790	0.2414:0.7586:0.0:0.0	.	168	Q96CM4	NXNL1_HUMAN	N	168	ENSP00000305631:D168N	ENSP00000305631:D168N	D	-	1	0	NXNL1	17427593	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.089000	0.57685	1.807000	0.52817	0.282000	0.19409	GAC	NXNL1	-	NULL		0.726	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXNL1	HGNC	protein_coding	OTTHUMT00000463803.1	C	NM_138454		17566593	-1	no_errors	ENST00000301944	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17566593	C	T	17566593	3	4	2	1	0	0	0	0	1	0	0	0	10812	855	30	1	140	1	NXNL1	19	17566593	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	9947043	17566593	41562390	106	209										
ZNF573	126231	genome.wustl.edu	37	chr19	38229812	38229812	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttttctacataccttacattCatagggtttcataccagtat	4	9	3	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:38229812C>T	ENST00000590414.2	-	4	1600	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ZNF573_ENST00000339503.4_Missense_Mutation_p.E469K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E439K|ZNF573_ENST00000392138.1_Missense_Mutation_p.E440K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E439K			Q86YE8	ZN573_HUMAN	zinc finger protein 573	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E469K(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ACCTTACATTCATAGGGTTTC	0.333																																																	1	Substitution - Missense(1)	cervix(1)											49	51	50					19																	38229812		2203	4299	6502	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1579G>A	19.37:g.38229812C>T	ENSP00000465020:p.Glu527Lys		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E527K	ENST00000590414.2	37	c.1579	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	-	12.52	1.961397	0.34565	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	N	0.02296	-0.605	0.09310	N	1	P;P;P;P	0.47841	0.879;0.879;0.901;0.879	B;B;B;B	0.40477	0.222;0.222;0.33;0.222	T	0.07616	-1.0763	9	0.13853	T	0.58	.	4.7259	0.12941	0.2451:0.5143:0.2405:0.0	.	440;469;507;439	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	K	440;439;439;469;439	ENSP00000375983:E440K;ENSP00000440464:E439K;ENSP00000349861:E439K;ENSP00000340171:E469K	ENSP00000340171:E469K	E	-	1	0	ZNF573	42921652	0.000000	0.05858	0.917000	0.36280	0.923000	0.55619	-1.461000	0.02366	1.168000	0.42723	0.585000	0.79938	GAA	ZNF573	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.333	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	C	NM_152360		38229812	-1	no_errors	ENST00000590414	ensembl	human	known	70_37	missense	SNP	0.339	T	T	38229812	C	T	38229812	3	4	2	1	0	0	0	0	1	0	0	0	18035	835	29	1	422	1	ZNF573	19	38229812	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	20663219	38229812	20899171	107	210										
CCDC114	93233	genome.wustl.edu	37	chr19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cagtgttggggtcaccgtgcGtgatgtggctgggcaaatgc	17	8	1	1	rs372889077		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	577					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.T577M(1)|p.T370M(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCACCGTGCGTGATGTGGCT	0.622																																																	2	Substitution - Missense(2)	cervix(2)											55	51	53					19																	48800516		2203	4300	6503	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1730C>T	19.37:g.48800516G>A	ENSP00000318429:p.Thr577Met		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.T577M	ENST00000315396.7	37	c.1730	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889042	0.17540	.	.	ENSG00000105479	ENST00000315396	T	0.32988	1.43	2.2	1.01	0.19927	.	.	.	.	.	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.17433	0.018	T	0.12760	-1.0535	9	0.87932	D	0	-4.7199	6.1144	0.20117	0.0:0.0:0.6969:0.303	.	577	Q96M63	CC114_HUMAN	M	577	ENSP00000318429:T577M	ENSP00000318429:T577M	T	-	2	0	CCDC114	53492328	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.881000	0.28173	0.152000	0.19188	0.561000	0.74099	ACG	CCDC114	-	NULL		0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	G	NM_144577		48800516	-1	no_errors	ENST00000315396	ensembl	human	known	70_37	missense	SNP	0.004	A	A	48800516	G	A	48800516	3	1	2	1	0	0	0	0	1	0	0	0	2756	1145	40	2	286	2	CCDC114	19	48800516	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	10570704	48800516	10328467	108	211										
LAIR1	3903	genome.wustl.edu	37	chr19	54872754	54872754	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gccccggcacacgaaagtcaCatggctccccagggggatca	12	15	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:54872754C>G	ENST00000391742.2	-	3	285	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L	LAIR1_ENST00000391743.3_Missense_Mutation_p.V27L|LAIR1_ENST00000313038.6_Missense_Mutation_p.V38L|LAIR1_ENST00000474878.1_Missense_Mutation_p.V44L|LAIR1_ENST00000348231.4_Missense_Mutation_p.V45L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.V44L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	45	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V45L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACGAAAGTCACATGGCTCCCC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											103	109	107					19																	54872754		2203	4300	6503	SO:0001583	missense	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.133G>C	19.37:g.54872754C>G	ENSP00000375622:p.Val45Leu			Missense_Mutation	SNP	smart_Ig_sub	p.V45L	ENST00000391742.2	37	c.133	CCDS12891.1	19	.	.	.	.	.	.	.	.	.	.	.	15.43	2.832210	0.50845	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;5.34	3.16	0.932	0.19466	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.388726	0.18806	N	0.130641	T	0.34571	0.0902	M	0.75884	2.315	0.09310	N	1	D;D;D;D;P;D	0.89917	0.997;0.972;0.994;1.0;0.94;0.999	D;P;D;D;P;D	0.97110	0.966;0.9;0.957;1.0;0.638;0.974	T	0.05533	-1.0879	10	0.72032	D	0.01	.	5.4762	0.16697	0.0:0.7312:0.0:0.2688	.	45;27;44;44;45;45	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	L	27;45;44;45;38;44;39	ENSP00000375623:V27L;ENSP00000375622:V45L;ENSP00000391003:V44L;ENSP00000301193:V45L;ENSP00000319204:V38L;ENSP00000418998:V44L;ENSP00000392058:V39L	ENSP00000319204:V38L	V	-	1	0	LAIR1	59564566	0.736000	0.28164	0.041000	0.18516	0.014000	0.08584	1.078000	0.30754	0.340000	0.23745	0.580000	0.79431	GTG	LAIR1	-	smart_Ig_sub		0.572	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR1	HGNC	protein_coding	OTTHUMT00000140506.1	C			54872754	-1	no_errors	ENST00000391742	ensembl	human	known	70_37	missense	SNP	0.053	G	G	54872754	C	G	54872754	3	3	2	1	0	0	0	0	1	0	0	0	8622	478	17	4	762	4	LAIR1	19	54872754	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	6072238	54872754	4256229	109	212										
LENG9	94059	genome.wustl.edu	37	chr19	54974291	54974291	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	caaagacgaggtcggtgcgcGaggcgcggtcccacacaagg	16	12	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:54974291G>C	ENST00000333834.4	-	1	603	c.485C>G	c.(484-486)tCg>tGg	p.S162W		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	162							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.S140W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GTCGGTGCGCGAGGCGCGGTC	0.751																																																	1	Substitution - Missense(1)	cervix(1)											8	10	9					19																	54974291		2071	4140	6211	SO:0001583	missense	94059			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.485C>G	19.37:g.54974291G>C	ENSP00000331647:p.Ser162Trp		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.S162W	ENST00000333834.4	37	c.485	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347711	0.41599	.	.	ENSG00000182909	ENST00000333834	T	0.35973	1.28	3.59	3.59	0.41128	.	0.594650	0.16160	U	0.226804	T	0.56992	0.2023	M	0.67700	2.07	0.58432	D	0.999998	D	0.76494	0.999	D	0.77557	0.99	T	0.61128	-0.7125	10	0.87932	D	0	-21.2461	13.0983	0.59206	0.0:0.0:1.0:0.0	.	162	Q96B70	LENG9_HUMAN	W	162	ENSP00000331647:S162W	ENSP00000331647:S162W	S	-	2	0	LENG9	59666103	1.000000	0.71417	0.976000	0.42696	0.103000	0.19146	3.568000	0.53820	1.743000	0.51761	0.305000	0.20034	TCG	LENG9	-	NULL		0.751	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	G	NM_198988		54974291	-1	no_errors	ENST00000333834	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54974291	G	C	54974291	3	2	2	1	0	0	0	0	1	0	0	0	8745	1059	37	1	1024	1	LENG9	19	54974291	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	101537	54974291	4154692	110	213										
NLRP5	126206	genome.wustl.edu	37	chr19	56538828	56538828	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cttcctgatcgtcaccgtcaGagacgtgggcacagagaagc	12	12	2	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:56538828G>C	ENST00000390649.3	+	7	1229	c.1229G>C	c.(1228-1230)aGa>aCa	p.R410T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R410T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCACCGTCAGAGACGTGGGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											45	47	46					19																	56538828		2099	4215	6314	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1229G>C	19.37:g.56538828G>C	ENSP00000375063:p.Arg410Thr		A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R410T	ENST00000390649.3	37	c.1229	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243645	0.22796	.	.	ENSG00000171487	ENST00000390649	D	0.86627	-2.15	3.35	-3.47	0.04753	NACHT nucleoside triphosphatase (1);	0.844986	0.09643	N	0.774681	D	0.88288	0.6396	L	0.60455	1.87	0.09310	N	1	P	0.44776	0.843	P	0.58391	0.838	T	0.80200	-0.1481	10	0.87932	D	0	.	5.6162	0.17432	0.2104:0.4545:0.3351:0.0	.	410	P59047	NALP5_HUMAN	T	410	ENSP00000375063:R410T	ENSP00000375063:R410T	R	+	2	0	NLRP5	61230640	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.694000	0.25512	-0.515000	0.06479	-0.136000	0.14681	AGA	NLRP5	-	pfscan_NACHT_NTPase		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	G	NM_153447		56538828	1	no_errors	ENST00000390649	ensembl	human	known	70_37	missense	SNP	0.000	C	C	56538828	G	C	56538828	3	2	2	1	0	0	0	0	1	0	0	0	10504	942	33	1	1255	1	NLRP5	19	56538828	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	1564537	56538828	2590155	111	214										
A1BG	1	genome.wustl.edu	37	chr19	58864353	58864353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atcctgtggacaagcccgagCggcagcggtagcggccctgg	16	13	0	0	rs533605370		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr19:58864353C>T	ENST00000263100.3	-	3	342	c.281G>A	c.(280-282)cGc>cAc	p.R94H	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	94	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R94H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAAGCCCGAGCGGCAGCGGTA	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		15020	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											46	53	51					19																	58864353		2203	4300	6503	SO:0001583	missense	1				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.281G>A	19.37:g.58864353C>T	ENSP00000263100:p.Arg94His		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.R94H	ENST00000263100.3	37	c.281	CCDS12976.1	19	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989526	0.35131	.	.	ENSG00000121410	ENST00000263100	T	0.14766	2.48	3.52	1.34	0.21922	Immunoglobulin-like fold (1);	0.547744	0.15170	N	0.276722	T	0.17450	0.0419	L	0.47716	1.5	0.23972	N	0.996302	D	0.62365	0.991	P	0.56163	0.793	T	0.14783	-1.0460	10	0.17832	T	0.49	.	6.0556	0.19809	0.0:0.7583:0.0:0.2417	.	94	P04217	A1BG_HUMAN	H	94	ENSP00000263100:R94H	ENSP00000263100:R94H	R	-	2	0	A1BG	63556165	0.025000	0.19082	0.314000	0.25224	0.022000	0.10575	-0.148000	0.10219	0.473000	0.27368	0.563000	0.77884	CGC	A1BG	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A1BG	HGNC	protein_coding	OTTHUMT00000466930.1	C	NM_130786		58864353	-1	no_errors	ENST00000263100	ensembl	human	known	70_37	missense	SNP	0.503	T	T	58864353	C	T	58864353	3	4	2	1	0	0	0	0	1	0	0	0	1	768	27	2	1230	2	A1BG	19	58864353	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	2325525	58864353	264630	112	215										
LPIN3	64900	genome.wustl.edu	37	chr20	39987182	39987182	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	cataaagaaccacaaatccaCgtgaggctaaaccctgccat	6	13	0	2	rs201841413		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr20:39987182C>T	ENST00000373257.3	+	19	2502	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	804					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.T804M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CACAAATCCACGTGAGGCTAA	0.597																																																	1	Substitution - Missense(1)	cervix(1)						C	MET/THR	0,4406		0,0,2203	69	78	75		2411	5.4	1	20		75	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	LPIN3	NM_022896.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	804/852	39987182	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2411+1C>T	20.37:g.39987182C>T			B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.T804M	ENST00000373257.3	37	c.2411	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.188157	0.94923	0.0	1.16E-4	ENSG00000132793	ENST00000373257	D	0.81821	-1.54	5.38	5.38	0.77491	.	0.078901	0.53938	D	0.000055	D	0.89753	0.6806	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.974	D	0.89605	0.3837	9	.	.	.	-10.8892	18.7482	0.91802	0.0:1.0:0.0:0.0	.	805;804	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	M	804	ENSP00000362354:T804M	.	T	+	2	0	LPIN3	39420596	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.682000	0.68182	2.521000	0.84997	0.650000	0.86243	ACG	LPIN3	-	NULL		0.597	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	C	NM_022896	Missense_Mutation	39987182	1	no_errors	ENST00000373257	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39987182	C	T	39987182	5	4	2	1	0	0	0	0	0	0	1	0	8943	550	19	2	2481	2	LPIN3	20	39987182	Splice_Site	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		39987182	23038338	113	216										
DNAJC5	80331	genome.wustl.edu	37	chr20	62559804	62559804	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atgacattaaaaagtcctatCggtaagtggacaagtgtggc	11	6	0	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr20:62559804C>T	ENST00000360864.4	+	2	259	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	DNAJC5_ENST00000369911.2_Splice_Site_p.R36W	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)		p.R36W(1)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAAGTCCTATCGGTAAGTGGA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											103	96	98					20																	62559804		2203	4300	6503	SO:0001630	splice_region_variant	80331				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"Heat shock proteins / DNAJ (HSP40)"	16235	protein-coding gene	gene with protein product		611203	"ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.107+1C>T	20.37:g.62559804C>T			A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R36W	ENST00000360864.4	37	c.106	CCDS13546.1	20	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422940	0.83559	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.42900	0.96;0.96	5.58	3.46	0.39613	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.94063	3.49	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.78362	-0.2233	10	0.87932	D	0	.	11.9316	0.52849	0.593:0.407:0.0:0.0	.	36;36	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	W	36	ENSP00000358927:R36W;ENSP00000354111:R36W	ENSP00000354111:R36W	R	+	1	2	DNAJC5	62030248	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.900000	0.56295	1.323000	0.45263	0.655000	0.94253	CGG	DNAJC5	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.498	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5	HGNC	protein_coding	OTTHUMT00000080244.1	C	NM_025219	Missense_Mutation	62559804	1	no_errors	ENST00000360864	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62559804	C	T	62559804	5	4	2	1	0	0	0	0	0	0	1	0	4660	898	31	1	108	1	DNAJC5	20	62559804	Splice_Site	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	22572622	62559804	465716	114	217										
NRIP1	8204	genome.wustl.edu	37	chr21	16338529	16338529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	atctatcaatcatacctatcGgtttatctgtgtttccagtt	5	9	4	0	rs543344464		TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr21:16338529G>A	ENST00000400202.1	-	3	2697	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L	NRIP1_ENST00000318948.4_Missense_Mutation_p.P662L|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.P662L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	662	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P662L(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CATACCTATCGGTTTATCTGT	0.378													G|||	1	0.000199681	0	0	5008	,	,		21031	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											122	125	124					21																	16338529		2203	4299	6502	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1985C>T	21.37:g.16338529G>A	ENSP00000383063:p.Pro662Leu		Q8IWE8	Missense_Mutation	SNP	NULL	p.P662L	ENST00000400202.1	37	c.1985	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198541	0.58126	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.28069	1.63;1.63;1.63	5.69	2.86	0.33363	.	0.214760	0.39274	N	0.001402	T	0.29945	0.0749	L	0.50333	1.59	0.47905	D	0.999541	D	0.55800	0.973	P	0.44623	0.455	T	0.04178	-1.0971	10	0.62326	D	0.03	-20.7392	10.1933	0.43039	0.0634:0.0:0.6925:0.2441	.	662	P48552	NRIP1_HUMAN	L	662	ENSP00000383060:P662L;ENSP00000383063:P662L;ENSP00000327213:P662L	ENSP00000327213:P662L	P	-	2	0	NRIP1	15260400	1.000000	0.71417	0.002000	0.10522	0.759000	0.43091	5.754000	0.68743	0.423000	0.26033	-0.122000	0.15005	CCG	NRIP1	-	NULL		0.378	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16338529	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	missense	SNP	0.963	A	A	16338529	G	A	16338529	3	1	2	1	0	0	0	0	1	0	0	0	10676	1116	39	2	1495	2	NRIP1	21	16338529	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08		16338529	31791366	115	218										
IFNGR2	3460	genome.wustl.edu	37	chr21	34804527	34804528	+	Frame_Shift_Ins	INS	-	-	AA													0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tccatttcattggataacttINSaaaaccctccagagtgtact							TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr21:34804527_34804528insAA	ENST00000290219.6	+	5	1253_1254	c.605_606insAA	c.(604-609)ttaaaafs	p.LK202fs	IFNGR2_ENST00000381995.1_Frame_Shift_Ins_p.LK221fs|IFNGR2_ENST00000405436.1_Frame_Shift_Ins_p.LK123fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	202	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTGGATAACTTAAAACCCTCCA	0.406																																																	0																																										SO:0001589	frameshift_variant	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.608_609dupAA	21.37:g.34804530_34804531dupAA	ENSP00000290219:p.Leu202fs		Q9BTL5	Frame_Shift_Ins	INS	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P204fs	ENST00000290219.6	37	c.605_606	CCDS33544.1	21																																																																																			IFNGR2	-	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.406	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR2	HGNC	protein_coding	OTTHUMT00000139916.1	-			34804528	1	no_errors	ENST00000290219	ensembl	human	known	70_37	frame_shift_ins	INS	0.004:0.000	AA	AA	34804528	-	AA	34804527	7	5	2	1	0	1	1	0	0	0	0	0	7570	1764	61	0	623	0	IFNGR2	21	34804527	Frame_Shift_Ins	INS	-	TCGA-BI-A0VS-01A-11D-A10S-08	18465998	34804527	13325368	116	219										
EIF3D	8664	genome.wustl.edu	37	chr22	36915583	36915583	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	ttctagggccccacaacactCactgtgggaagagcaggcaa	11	12	2	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chr22:36915583C>G	ENST00000216190.8	-	8	950	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	EIF3D_ENST00000541106.1_Splice_Site_p.E145Q|EIF3D_ENST00000405442.1_Splice_Site_p.E194Q	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.E194Q(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CCACAACACTCACTGTGGGAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											163	144	151					22																	36915583		2203	4300	6503	SO:0001630	splice_region_variant	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.579-1G>C	22.37:g.36915583C>G				Missense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.E194Q	ENST00000216190.8	37	c.580	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536278	0.27475	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	6.04	6.04	0.98038	.	0.092954	0.64402	D	0.000001	T	0.52853	0.1760	N	0.25890	0.77	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.23150	0.033;0.044	T	0.45279	-0.9272	9	0.15499	T	0.54	-0.9641	20.5792	0.99380	0.0:1.0:0.0:0.0	.	145;194	B4DVY1;O15371	.;EIF3D_HUMAN	Q	194;179;145;194;194	.	ENSP00000216190:E194Q	E	-	1	0	EIF3D	35245529	1.000000	0.71417	0.975000	0.42487	0.002000	0.02628	7.419000	0.80179	2.873000	0.98535	0.561000	0.74099	GAG	EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta		0.468	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	C		Missense_Mutation	36915583	-1	no_errors	ENST00000216190	ensembl	human	known	70_37	missense	SNP	0.366	G	G	36915583	C	G	36915583	5	3	2	1	0	0	0	0	0	0	1	0	5026	840	29	1	1098	1	EIF3D	22	36915583	Splice_Site	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		36915583	14388983	117	220										
GLRA2	2742	genome.wustl.edu	37	chrX	14748344	14748344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	gtcaggaagaagacgttactCgtgaaagtcgttttaatttt	10	5	1	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:14748344C>T	ENST00000218075.4	+	9	1626	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	GLRA2_ENST00000443437.2_Missense_Mutation_p.R277C|GLRA2_ENST00000355020.4_Missense_Mutation_p.R366C	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	366					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R366S(2)|p.R366C(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AGACGTTACTCGTGAAAGTCG	0.443																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											256	259	258					X																	14748344		2203	4300	6503	SO:0001583	missense	2742				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1096C>T	X.37:g.14748344C>T	ENSP00000218075:p.Arg366Cys		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel	p.R366C	ENST00000218075.4	37	c.1096	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023209	0.75275	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.82167	-1.58;-1.58;-1.58	5.2	4.33	0.51752	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.351880	0.29884	N	0.010944	D	0.86698	0.5995	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;P;P	0.65140	0.932;0.684;0.764	D	0.87281	0.2292	10	0.62326	D	0.03	.	14.6167	0.68556	0.1467:0.8533:0.0:0.0	.	350;366;366	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	C	277;366;366	ENSP00000387756:R277C;ENSP00000218075:R366C;ENSP00000347123:R366C	ENSP00000218075:R366C	R	+	1	0	GLRA2	14658265	1.000000	0.71417	0.816000	0.32577	0.976000	0.68499	5.630000	0.67805	1.075000	0.40932	0.544000	0.68410	CGT	GLRA2	-	superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A2,tigrfam_Neur_channel		0.443	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1	C			14748344	1	no_errors	ENST00000218075	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14748344	C	T	14748344	3	4	2	1	0	0	0	0	1	0	0	0	6474	884	31	1	1202	1	GLRA2	23	14748344	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08		14748344	140522216	118	221										
MAP3K15	389840	genome.wustl.edu	37	chrX	19482436	19482436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgggctgcatgtactcggagGctcgtctctgggcatcactc	13	12	2	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:19482436G>T	ENST00000338883.4	-	4	613	c.614C>A	c.(613-615)gCc>gAc	p.A205D	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A37D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	205							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A252D(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTACTCGGAGGCTCGTCTCTG	0.512																																																	1	Substitution - Missense(1)	cervix(1)											114	89	96					X																	19482436		1568	3582	5150	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.614C>A	X.37:g.19482436G>T	ENSP00000345629:p.Ala205Asp		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A205D	ENST00000338883.4	37	c.614		X	.	.	.	.	.	.	.	.	.	.	g	21.7	4.194312	0.78902	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.09538	2.97;2.97	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.40543	1.245	0.80722	D	1	.	.	.	.	.	.	T	0.06391	-1.0829	8	0.12103	T	0.63	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	D	205;37	ENSP00000345629:A205D;ENSP00000428356:A37D	ENSP00000345629:A205D	A	-	2	0	MAP3K15	19392357	1.000000	0.71417	0.092000	0.20876	0.720000	0.41350	5.307000	0.65762	2.406000	0.81754	0.594000	0.82650	GCC	MAP3K15	-	NULL		0.512	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19482436	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19482436	G	T	19482436	3	4	2	1	0	0	0	0	1	0	0	0	9272	1203	42	4	3431	4	MAP3K15	23	19482436	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	4734092	19482436	135788124	119	222										
PHKA1	5255	genome.wustl.edu	37	chrX	71825423	71825423	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tgaaatgctcatatccccttCactggcttcatctatcagct	5	13	5	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:71825423C>T	ENST00000373542.4	-	24	2812	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K	PHKA1_ENST00000373539.3_Missense_Mutation_p.E885K|PHKA1_ENST00000373545.3_Missense_Mutation_p.E826K|PHKA1_ENST00000541944.1_Missense_Mutation_p.E826K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E885K	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	885					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.E885K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATATCCCCTTCACTGGCTTCA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											77	68	71					X																	71825423		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2653G>A	X.37:g.71825423C>T	ENSP00000362643:p.Glu885Lys		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.E885K	ENST00000373542.4	37	c.2653	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774364	0.70107	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	6.01	6.01	0.97437	Glycoside hydrolase 15-related (1);	0.046842	0.85682	D	0.000000	D	0.86723	0.6001	M	0.63428	1.95	0.53005	D	0.999963	P;B;B	0.35050	0.482;0.009;0.1	B;B;B	0.31686	0.134;0.022;0.06	D	0.84507	0.0620	10	0.24483	T	0.36	-24.3668	16.6646	0.85249	0.0:1.0:0.0:0.0	.	826;885;885	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	K	826;885;826;885;885	ENSP00000362646:E826K;ENSP00000362643:E885K;ENSP00000441251:E826K;ENSP00000342469:E885K;ENSP00000362640:E885K	ENSP00000342469:E885K	E	-	1	0	PHKA1	71742148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.655000	0.67981	2.544000	0.85801	0.594000	0.82650	GAA	PHKA1	-	pfam_Glyco_hydro_15		0.378	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	C			71825423	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71825423	C	T	71825423	3	4	2	1	0	0	0	0	1	0	0	0	11867	835	29	1	1054	1	PHKA1	23	71825423	Missense_Mutation	SNP	C	TCGA-BI-A0VS-01A-11D-A10S-08	52342987	71825423	83445137	120	223										
KLHL4	56062	genome.wustl.edu	37	chrX	86868950	86868950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	agttccatgttataaaccacGcagagcaaactcttcgtaaa	6	10	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:86868950G>A	ENST00000373119.4	+	2	638	c.493G>A	c.(493-495)Gca>Aca	p.A165T	KLHL4_ENST00000373114.4_Missense_Mutation_p.A165T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	165						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A165T(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATAAACCACGCAGAGCAAAC	0.423																																																	2	Substitution - Missense(2)	cervix(2)											107	90	96					X																	86868950		2203	4299	6502	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.493G>A	X.37:g.86868950G>A	ENSP00000362211:p.Ala165Thr		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A165T	ENST00000373119.4	37	c.493	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878347	0.72294	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.71103	-0.54;-0.54	5.16	5.16	0.70880	BTB/POZ fold (2);	0.242984	0.41500	D	0.000879	T	0.82070	0.4957	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.93;0.983	T	0.80226	-0.1470	10	0.27082	T	0.32	.	16.1544	0.81646	0.0:0.0:1.0:0.0	.	165;165	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	165	ENSP00000362211:A165T;ENSP00000362206:A165T	ENSP00000362206:A165T	A	+	1	0	KLHL4	86755606	1.000000	0.71417	0.925000	0.36789	0.347000	0.29111	9.239000	0.95389	2.122000	0.65172	0.506000	0.49869	GCA	KLHL4	-	superfamily_BTB/POZ_fold		0.423	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	G			86868950	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86868950	G	A	86868950	3	1	2	1	0	0	0	0	1	0	0	0	8411	1087	38	2	499	2	KLHL4	23	86868950	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	15043527	86868950	68401610	121	224										
CPXCR1	53336	genome.wustl.edu	37	chrX	88008861	88008861	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tattaacagtcatgagataaGaagtatgattctccatctgc	7	7	3	3			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:88008861G>A	ENST00000276127.4	+	3	705	c.446G>A	c.(445-447)aGa>aAa	p.R149K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R149K	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	149							metal ion binding (GO:0046872)	p.R149K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CATGAGATAAGAAGTATGATT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											55	48	51					X																	88008861		2203	4300	6503	SO:0001583	missense	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.446G>A	X.37:g.88008861G>A	ENSP00000276127:p.Arg149Lys		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R149K	ENST00000276127.4	37	c.446	CCDS14458.1	X	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540434	0.27563	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.42513	0.97;0.97	2.97	2.1	0.27182	.	0.390779	0.18882	N	0.128555	T	0.20373	0.0490	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.33339	0.162	T	0.10428	-1.0630	9	.	.	.	-8.603	5.2008	0.15262	0.1679:0.0:0.8321:0.0	.	149	Q8N123	CPXCR_HUMAN	K	149	ENSP00000276127:R149K;ENSP00000362203:R149K	.	R	+	2	0	CPXCR1	87895517	0.008000	0.16893	0.068000	0.19968	0.340000	0.28889	0.018000	0.13422	0.663000	0.31027	0.594000	0.82650	AGA	CPXCR1	-	NULL		0.368	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	G	NM_033048		88008861	1	no_errors	ENST00000276127	ensembl	human	known	70_37	missense	SNP	0.072	A	A	88008861	G	A	88008861	3	1	2	1	0	0	0	0	1	0	0	0	3841	942	33	1	448	1	CPXCR1	23	88008861	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	1139911	88008861	67261699	122	225										
PAK3	5063	genome.wustl.edu	37	chrX	110406215	110406215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	aagatgaagaggaagaagaaGaagaagatgaaaatgagcca	13	2	0	10			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:110406215G>C	ENST00000372010.1	+	10	1028	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	PAK3_ENST00000417227.1_Missense_Mutation_p.E202Q|PAK3_ENST00000360648.4_Missense_Mutation_p.E217Q|PAK3_ENST00000519681.1_Missense_Mutation_p.E202Q|PAK3_ENST00000518291.1_Missense_Mutation_p.E217Q|PAK3_ENST00000262836.4_Missense_Mutation_p.E196Q|PAK3_ENST00000446737.1_Missense_Mutation_p.E181Q|PAK3_ENST00000372007.5_Missense_Mutation_p.E181Q|PAK3_ENST00000425146.1_Missense_Mutation_p.E181Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	196	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E181Q(1)|p.E217Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ggaagaagaagaagaagatga	0.403										TSP Lung(19;0.15)																																							2	Substitution - Missense(2)	cervix(2)											151	132	139					X																	110406215		2203	4300	6503	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.586G>C	X.37:g.110406215G>C	ENSP00000361080:p.Glu196Gln		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.E217Q	ENST00000372010.1	37	c.649	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121410	0.37436	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.52;-0.53;-0.53;-0.53;-0.53;-0.53;-0.52	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	N	0.14661	0.345	0.45883	D	0.998731	P;P;B;B	0.35821	0.523;0.523;0.389;0.371	B;B;B;B	0.41466	0.283;0.358;0.266;0.211	T	0.57556	-0.7791	10	0.17369	T	0.5	.	17.909	0.88928	0.0:0.0:1.0:0.0	.	202;217;196;181	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	Q	181;181;196;202;181;217;217;202;196	ENSP00000410853:E181Q;ENSP00000401982:E181Q;ENSP00000361080:E196Q;ENSP00000429113:E202Q;ENSP00000361077:E181Q;ENSP00000428921:E217Q;ENSP00000353864:E217Q;ENSP00000389172:E202Q;ENSP00000262836:E196Q	ENSP00000262836:E196Q	E	+	1	0	PAK3	110292871	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	8.414000	0.90238	2.504000	0.84457	0.600000	0.82982	GAA	PAK3	-	NULL		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	G	NM_002578		110406215	1	no_errors	ENST00000360648	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110406215	G	C	110406215	3	2	2	1	0	0	0	0	1	0	0	0	11426	943	33	1	675	1	PAK3	23	110406215	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	22397354	110406215	44864345	123	226										
MAP7D3	79649	genome.wustl.edu	37	chrX	135326895	135326895	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	tctctgtctttcctccatctGtttttcatattggagcttgg	7	10	4	0			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:135326895G>C	ENST00000316077.9	-	4	533	c.313C>G	c.(313-315)Cag>Gag	p.Q105E	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q87E|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q105E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	105					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.Q402E(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCCTCCATCTGTTTTTCATAT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											175	152	159					X																	135326895		1832	4078	5910	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.313C>G	X.37:g.135326895G>C	ENSP00000318086:p.Gln105Glu		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.Q87E	ENST00000316077.9	37	c.259	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021540	0.35701	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.02	4.15	0.48705	.	.	.	.	.	T	0.18341	0.0440	L	0.52364	1.645	0.30363	N	0.783635	D;D;D;D	0.76494	0.996;0.999;0.996;0.998	P;D;P;D	0.68483	0.831;0.958;0.831;0.919	T	0.01988	-1.1234	9	0.72032	D	0.01	-8.0266	12.5243	0.56077	0.0842:0.0:0.9158:0.0	.	87;105;105;105	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	105;105;87;105	ENSP00000359695:Q105E;ENSP00000318086:Q105E;ENSP00000359697:Q87E;ENSP00000359694:Q105E	ENSP00000318086:Q105E	Q	-	1	0	MAP7D3	135154561	0.999000	0.42202	0.003000	0.11579	0.017000	0.09413	3.454000	0.52986	1.024000	0.39682	0.506000	0.49869	CAG	MAP7D3	-	NULL		0.378	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	G			135326895	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.821	C	C	135326895	G	C	135326895	3	2	2	1	0	0	0	0	1	0	0	0	9292	1386	48	4	2377	4	MAP7D3	23	135326895	Missense_Mutation	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	24920680	135326895	19943665	124	227										
IL9R	3581	genome.wustl.edu	37	chrX	155239720	155239720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.32	40	4.18256056651341e-09	2.74078862314156	3.56302521008403	2.407449466273	0.0435095541944205	0.133981801805041	25	acggagtggagggtacagacGcttgcctatctgccacagga	14	10	1	1			TCGA-BI-A0VS-01A-11D-A10S-08	TCGA-BI-A0VS-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190	cc7fbc59-ea41-4bf9-931a-a84da881e22c	g.chrX:155239720G>A	ENST00000244174.5	+	9	1391	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Silent_p.T383T|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	404					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.T404T(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGTACAGACGCTTGCCTATC	0.667																																																	1	Substitution - coding silent(1)	cervix(1)											11	21	18					X																	155239720		2060	4212	6272	SO:0001819	synonymous_variant	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1212G>A	X.37:g.155239720G>A			B9ZVT0|Q14634|Q8WWU1|Q96TF0	Silent	SNP	superfamily_Fibronectin_type3	p.T404	ENST00000244174.5	37	c.1212	CCDS14771.4	X																																																																																			IL9R	-	NULL		0.667	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	G	NM_002186		155239720	1	no_errors	ENST00000244174	ensembl	human	known	70_37	silent	SNP	0.000	A	A	155239720	G	A	155239720	2	1	2	1	0	0	0	0	0	0	0	1	7728	1074	38	2		2	IL9R	23	155239720	Silent	SNP	G	TCGA-BI-A0VS-01A-11D-A10S-08	19912825	155239720	30840	125	228										
UBR4	23352	genome.wustl.edu	37	chr1	19419826	19419826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cttcttggcgctagggatgtGctttttcatgtagtcaagtg	12	7	3	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:19419826G>A	ENST00000375254.3	-	96	14119	c.14092C>T	c.(14092-14094)Cac>Tac	p.H4698Y	UBR4_ENST00000375267.2_Missense_Mutation_p.H4698Y|UBR4_ENST00000375217.2_Missense_Mutation_p.H4691Y|UBR4_ENST00000375224.1_Missense_Mutation_p.H405Y|UBR4_ENST00000375226.2_Missense_Mutation_p.H4674Y|UBR4_ENST00000429347.2_Missense_Mutation_p.H221Y|UBR4_ENST00000467272.2_5'Flank|UBR4_ENST00000543981.1_Missense_Mutation_p.H362Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4698					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTAGGGATGTGCTTTTTCATG	0.507																																																	0													136	123	127					1																	19419826		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14092C>T	1.37:g.19419826G>A	ENSP00000364403:p.His4698Tyr		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.H4698Y	ENST00000375254.3	37	c.14092	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151309	0.57151	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.07	6.07	0.98685	.	0.046880	0.85682	D	0.000000	T	0.33469	0.0864	L	0.37561	1.115	0.80722	D	1	B;B;P;B	0.35208	0.274;0.274;0.49;0.232	B;B;B;B	0.39706	0.152;0.152;0.307;0.058	T	0.02829	-1.1105	10	0.48119	T	0.1	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	362;221;4698;4674	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	Y	4698;4698;4691;4674;405;221;362	ENSP00000364403:H4698Y;ENSP00000364416:H4698Y;ENSP00000364365:H4691Y;ENSP00000364374:H4674Y;ENSP00000364372:H405Y;ENSP00000394173:H221Y;ENSP00000444070:H362Y	ENSP00000364365:H4691Y	H	-	1	0	UBR4	19292413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	CAC	UBR4	-	NULL		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19419826	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19419826	G	A	19419826	3	1	3	1	0	0	0	0	1	0	0	0	16935	1319	46	4	1503	4	UBR4	1	19419826	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		19419826	229830795	1	229										
GBP6	163351	genome.wustl.edu	37	chr1	89846126	89846126	+	Frame_Shift_Del	DEL	T	T	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gaacaaacaaacattttctgTtcttacatcttcactcatgc							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:89846126delT	ENST00000370456.4	+	6	900	c.807delT	c.(805-807)tgtfs	p.C269fs	GBP6_ENST00000535065.1_Frame_Shift_Del_p.C139fs	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	269	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACATTTTCTGTTCTTACATCT	0.443																																																	0													74	69	71					1																	89846126		2203	4300	6503	SO:0001589	frameshift_variant	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.807delT	1.37:g.89846126delT	ENSP00000359485:p.Cys269fs		A2RRM3|Q6ZN86|Q7Z3F0	Frame_Shift_Del	DEL	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.S270fs	ENST00000370456.4	37	c.807	CCDS723.1	1																																																																																			GBP6	-	pfam_Guanylate-bd_N		0.443	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	T	NM_198460		89846126	1	no_errors	ENST00000370456	ensembl	human	known	70_37	frame_shift_del	DEL	0.964	-	-	89846126	T	-	89846126	7	5	3	1	0	1	0	1	0	0	0	0	6297	1731	60	0	825	0	GBP6	1	89846126	Frame_Shift_Del	DEL	T	TCGA-BI-A20A-01A-11D-A14W-08	70426300	89846126	159404495	2	230										
USH2A	7399	genome.wustl.edu	37	chr1	215901538	215901538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gagcccaaggagctggaaaaTcttgaggtggagcttccaga	14	8	1	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:215901538T>C	ENST00000307340.3	-	61	12286	c.11900A>G	c.(11899-11901)gAt>gGt	p.D3967G	USH2A_ENST00000366943.2_Missense_Mutation_p.D3967G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3967	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTGGAAAATCTTGAGGTGG	0.483										HNSCC(13;0.011)																																							0													85	83	84					1																	215901538		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11900A>G	1.37:g.215901538T>C	ENSP00000305941:p.Asp3967Gly		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D3967G	ENST00000307340.3	37	c.11900	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467916	0.12402	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52295	0.67;0.67	5.53	-4.05	0.03998	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341617	0.20796	N	0.085531	T	0.12092	0.0294	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26538	-1.0100	10	0.02654	T	1	.	1.5291	0.02532	0.1274:0.3149:0.2571:0.3006	.	3967	O75445	USH2A_HUMAN	G	3967	ENSP00000305941:D3967G;ENSP00000355910:D3967G	ENSP00000305941:D3967G	D	-	2	0	USH2A	213968161	0.002000	0.14202	0.005000	0.12908	0.974000	0.67602	0.569000	0.23638	-0.630000	0.05567	0.482000	0.46254	GAT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		215901538	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.000	C	C	215901538	T	C	215901538	3	2	3	1	0	0	0	0	1	0	0	0	17067	1435	50	5	3756	5	USH2A	1	215901538	Missense_Mutation	SNP	T	TCGA-BI-A20A-01A-11D-A14W-08	126055412	215901538	33349083	3	231										
OR2M5	127059	genome.wustl.edu	37	chr1	248309230	248309230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	caggtttgttcatgtacataCggcccacatctgatcgctcc	8	13	2	1	rs540211211	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr1:248309230C>T	ENST00000366476.1	+	1	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGTACATACGGCCCACATC	0.517													c|||	2	0.000399361	0	0	5008	,	,		18141	0		0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	lung(1)											202	183	189					1																	248309230		2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.781C>T	1.37:g.248309230C>T	ENSP00000355432:p.Arg261Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R261W	ENST00000366476.1	37	c.781	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	9.354	1.066334	0.20067	.	.	ENSG00000162727	ENST00000366476	T	0.37915	1.17	3.28	-0.8	0.10897	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.34250	0.0891	M	0.80847	2.515	0.09310	N	1	B	0.16603	0.018	B	0.22601	0.04	T	0.42068	-0.9473	10	0.41790	T	0.15	.	1.6407	0.02752	0.4252:0.3024:0.1236:0.1488	.	261	A3KFT3	OR2M5_HUMAN	W	261	ENSP00000355432:R261W	ENSP00000355432:R261W	R	+	1	2	OR2M5	246375853	0.000000	0.05858	0.011000	0.14972	0.028000	0.11728	-0.616000	0.05591	-0.423000	0.07394	0.492000	0.49549	CGG	OR2M5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	C	NM_001004690		248309230	1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.006	T	T	248309230	C	T	248309230	3	4	3	1	0	0	0	0	1	0	0	0	11037	527	19	2	783	2	OR2M5	1	248309230	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	32407692	248309230	941391	4	232										
TPO	7173	genome.wustl.edu	37	chr2	1500418	1500418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gaatggggactttgtgcactGtgaggagtctgggaggcgcg	19	6	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:1500418G>A	ENST00000345913.4	+	13	2358	c.2267G>A	c.(2266-2268)tGt>tAt	p.C756Y	TPO_ENST00000382198.1_Missense_Mutation_p.C583Y|TPO_ENST00000382201.3_Missense_Mutation_p.C699Y|TPO_ENST00000337415.3_Missense_Mutation_p.C756Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.C583Y|TPO_ENST00000346956.3_Missense_Mutation_p.C756Y|TPO_ENST00000329066.4_Missense_Mutation_p.C756Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	756	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTTGTGCACTGTGAGGAGTCT	0.542																																																	0													159	151	154					2																	1500418		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2267G>A	2.37:g.1500418G>A	ENSP00000318820:p.Cys756Tyr		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.C756Y	ENST00000345913.4	37	c.2267	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.874962|1.874962	0.33162|0.33162	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.75938|.	-0.98;-0.98;1.91;1.91;-0.98;1.91;1.91;1.91;-0.05|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Complement control module (2);Sushi/SCR/CCP (2);|.	0.524277|.	0.21193|.	N|.	0.078606|.	T|T	0.72145|0.72145	0.3424|0.3424	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0|.	D;D;D;D|.	0.78314|.	0.991;0.968;0.991;0.979|.	T|T	0.71189|0.71189	-0.4666|-0.4666	10|5	0.87932|.	D|.	0|.	-23.277|-23.277	17.0292|17.0292	0.86456|0.86456	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	756;583;699;756|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	Y|M	756;756;756;583;756;699;583;685;230|231	ENSP00000337263:C756Y;ENSP00000318820:C756Y;ENSP00000263886:C756Y;ENSP00000332044:C583Y;ENSP00000329869:C756Y;ENSP00000371636:C699Y;ENSP00000371633:C583Y;ENSP00000405788:C685Y;ENSP00000419461:C230Y|.	ENSP00000329869:C756Y|.	C|V	+|+	2|1	0|0	TPO|TPO	1479425|1479425	1.000000|1.000000	0.71417|0.71417	0.071000|0.071000	0.20095|0.20095	0.081000|0.081000	0.17604|0.17604	4.462000|4.462000	0.60121|0.60121	2.439000|2.439000	0.82584|0.82584	0.591000|0.591000	0.81541|0.81541	TGT|GTG	TPO	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.542	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1500418	1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.653	A	A	1500418	G	A	1500418	3	1	3	1	0	0	0	0	1	0	0	0	16441	1377	48	4	2313	4	TPO	2	1500418	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		1500418	241698955	5	233										
LRPPRC	10128	genome.wustl.edu	37	chr2	44161369	44161372	+	Frame_Shift_Del	DEL	AGGA	AGGA	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ctttgtaatttcctgtttgtAggaaggcaaagaagagatca					rs61730682	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	AGGA	AGGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:44161369_44161372delAGGA	ENST00000260665.7	-	25	2750_2753	c.2693_2696delTCCT	c.(2692-2697)ttcctafs	p.FL898fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	898					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCTGTTTGTAGGAAGGCAAAGAA	0.348																																																	0																																										SO:0001589	frameshift_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2693_2696delTCCT	2.37:g.44161369_44161372delAGGA	ENSP00000260665:p.Phe898fs		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.F898fs	ENST00000260665.7	37	c.2696_2693	CCDS33189.1	2																																																																																			LRPPRC	-	NULL		0.348	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	AGGA	NM_133259		44161372	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	44161372	AGGA	-	44161369	7	5	3	1	0	1	0	1	0	0	0	0	8988	420	15	0	1544	0	LRPPRC	2	44161369	Frame_Shift_Del	DEL	AGGA	TCGA-BI-A20A-01A-11D-A14W-08	42660951	44161369	199038004	6	234										
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135891462	135891462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcagttcaagtctgcaccatCtgacagtttaacatacaaac	5	11	4	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:135891462C>T	ENST00000264158.8	+	15	1401	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S453F|SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S409F	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	453					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCTGCACCATCTGACAGTTTA	0.348																																																	0													127	123	125					2																	135891462		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1358C>T	2.37:g.135891462C>T	ENSP00000264158:p.Ser453Phe		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.S453F	ENST00000264158.8	37	c.1358	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530951	0.64972	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46451	0.88;0.87;0.88	5.16	5.16	0.70880	.	0.385097	0.29451	N	0.012118	T	0.57533	0.2060	L	0.46157	1.445	0.46678	D	0.999157	D;D	0.71674	0.998;0.998	D;D	0.63488	0.915;0.915	T	0.56074	-0.8039	10	0.48119	T	0.1	-14.5053	19.0076	0.92857	0.0:1.0:0.0:0.0	.	453;453	C9J837;Q15042	.;RB3GP_HUMAN	F	453;409;453	ENSP00000264158:S453F;ENSP00000444306:S409F;ENSP00000411418:S453F	ENSP00000264158:S453F	S	+	2	0	RAB3GAP1	135607932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.863000	0.62983	2.571000	0.86741	0.591000	0.81541	TCT	RAB3GAP1	-	NULL		0.348	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	C	NM_012233		135891462	1	no_errors	ENST00000264158	ensembl	human	known	70_37	missense	SNP	0.998	T	T	135891462	C	T	135891462	3	4	3	1	0	0	0	0	1	0	0	0	12965	913	32	1	1416	1	RAB3GAP1	2	135891462	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	91730093	135891462	107307911	7	235										
TTN	7273	genome.wustl.edu	37	chr2	179417593	179417593	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gggttccccaattccaatttCattttctgcaagaactctga	6	11	3	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:179417593C>T	ENST00000591111.1	-	285	85335	c.85111G>A	c.(85111-85113)Gaa>Aaa	p.E28371K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20947K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E30012K|TTN_ENST00000359218.5_Missense_Mutation_p.E21072K|TTN_ENST00000342992.6_Missense_Mutation_p.E27444K|TTN_ENST00000342175.6_Missense_Mutation_p.E21139K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28371	Fibronectin type-III 106. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCAATTTCATTTTCTGCA	0.428																																																	0													49	48	48					2																	179417593		1867	4100	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85111G>A	2.37:g.179417593C>T	ENSP00000465570:p.Glu28371Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E27444K	ENST00000591111.1	37	c.82330		2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396774	0.83120	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.69	5.69	0.88448	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65091	0.2658	L	0.31664	0.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.66878	-0.5812	9	0.87932	D	0	.	20.179	0.98193	0.0:1.0:0.0:0.0	.	20947;21072;21139;28371	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27444;20947;21139;21072;20944	ENSP00000343764:E27444K;ENSP00000434586:E20947K;ENSP00000340554:E21139K;ENSP00000352154:E21072K	ENSP00000340554:E21139K	E	-	1	0	TTN	179125839	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.847000	0.97988	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179417593	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179417593	C	T	179417593	3	4	3	1	0	0	0	0	1	0	0	0	16766	835	29	1	18057	1	TTN	2	179417593	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	43526131	179417593	63781780	8	236										
RHBDD1	84236	genome.wustl.edu	37	chr2	227773550	227773550	+	Frame_Shift_Del	DEL	C	C	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	acgtttaggcggtttttcctCcagtgttggttacccaggac							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:227773550delC	ENST00000341329.3	+	5	910	c.668delC	c.(667-669)tccfs	p.S224fs	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000392062.2_Frame_Shift_Del_p.S224fs|RHBDD1_ENST00000409053.1_Frame_Shift_Del_p.S58fs	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	224					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GGTTTTTCCTCCAGTGTTGGT	0.313																																																	0													143	134	137					2																	227773550		2203	4300	6503	SO:0001589	frameshift_variant	84236			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.668delC	2.37:g.227773550delC	ENSP00000344779:p.Ser224fs		Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Frame_Shift_Del	DEL	pfam_Peptidase_S54_rhomboid_dom	p.S224fs	ENST00000341329.3	37	c.668	CCDS2464.1	2																																																																																			RHBDD1	-	NULL		0.313	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD1	HGNC	protein_coding	OTTHUMT00000256885.2	C			227773550	1	no_errors	ENST00000341329	ensembl	human	known	70_37	frame_shift_del	DEL	0.190	-	-	227773550	C	-	227773550	7	5	3	1	0	1	0	1	0	0	0	0	13346	855	30	0	682	0	RHBDD1	2	227773550	Frame_Shift_Del	DEL	C	TCGA-BI-A20A-01A-11D-A14W-08	48355957	227773550	15425823	9	237										
COL6A3	1293	genome.wustl.edu	37	chr2	238249105	238249105	+	Frame_Shift_Del	DEL	G	G	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	caggacttactgctgacgaaGgatggcaacagcctcccgaa							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:238249105delG	ENST00000295550.4	-	38	8906	c.8454delC	c.(8452-8454)tccfs	p.S2818fs	COL6A3_ENST00000346358.4_Frame_Shift_Del_p.S2618fs|COL6A3_ENST00000472056.1_Frame_Shift_Del_p.S2211fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.S2612fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.S2617fs|COL6A3_ENST00000353578.4_Frame_Shift_Del_p.S2612fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2818	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGACGAAGGATGGCAACA	0.552																																																	0													65	59	61					2																	238249105		2203	4300	6503	SO:0001589	frameshift_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8454delC	2.37:g.238249105delG	ENSP00000295550:p.Ser2818fs		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Frame_Shift_Del	DEL	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.F2819fs	ENST00000295550.4	37	c.8454	CCDS33412.1	2																																																																																			COL6A3	-	NULL		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238249105	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	frame_shift_del	DEL	0.898	-	-	238249105	G	-	238249105	7	5	3	1	0	1	0	1	0	0	0	0	3706	987	35	0	1107	0	COL6A3	2	238249105	Frame_Shift_Del	DEL	G	TCGA-BI-A20A-01A-11D-A14W-08	10475555	238249105	4950268	10	238										
C2orf54	79919	genome.wustl.edu	37	chr2	241831156	241831156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	acaggtggagctgctcctccCtcaggctggccgcgttcagc	13	15	2	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr2:241831156C>G	ENST00000388934.4	-	2	697	c.539G>C	c.(538-540)aGg>aCg	p.R180T	C2orf54_ENST00000402775.2_Missense_Mutation_p.R12T|C2orf54_ENST00000307486.8_Missense_Mutation_p.R31T	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	180										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTGCTCCTCCCTCAGGCTGGC	0.652																																																	0													46	54	52					2																	241831156		2172	4259	6431	SO:0001583	missense	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.539G>C	2.37:g.241831156C>G	ENSP00000373586:p.Arg180Thr		B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	NULL	p.R180T	ENST00000388934.4	37	c.539	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069660	0.36470	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.11495	2.77;2.77;2.77	4.24	-3.11	0.05299	.	1.319440	0.05057	N	0.479264	T	0.13500	0.0327	L	0.60455	1.87	0.09310	N	1	B;B;B	0.25441	0.126;0.126;0.103	B;B;B	0.26094	0.042;0.066;0.025	T	0.45991	-0.9223	10	0.87932	D	0	-4.0295	10.2761	0.43510	0.0:0.1845:0.0:0.8155	.	180;31;12	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	T	12;31;180	ENSP00000385338:R12T;ENSP00000302779:R31T;ENSP00000373586:R180T	ENSP00000302779:R31T	R	-	2	0	C2orf54	241479829	0.000000	0.05858	0.004000	0.12327	0.968000	0.65278	-0.924000	0.03996	-0.548000	0.06199	0.591000	0.81541	AGG	C2orf54	-	NULL		0.652	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	HGNC	protein_coding	OTTHUMT00000324353.1	C	NM_024861, NM_001085437		241831156	-1	no_errors	ENST00000388934	ensembl	human	known	70_37	missense	SNP	0.023	G	G	241831156	C	G	241831156	3	3	3	1	0	0	0	0	1	0	0	0	2180	681	24	4	820	4	C2orf54	2	241831156	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	3582051	241831156	1368217	11	239										
ITPR1	3708	genome.wustl.edu	37	chr3	4732969	4732970	+	Frame_Shift_Ins	INS	-	-	T													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gtatataaagttcttacagaINScaattgtcaaggcagaaggg							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:4732969_4732970insT	ENST00000443694.2	+	29	3925_3926	c.3925_3926insT	c.(3925-3927)acafs	p.T1309fs	ITPR1_ENST00000354582.6_Frame_Shift_Ins_p.T1324fs|ITPR1_ENST00000302640.8_Frame_Shift_Ins_p.T1309fs|ITPR1_ENST00000357086.4_Frame_Shift_Ins_p.T1315fs|ITPR1_ENST00000456211.2_Frame_Shift_Ins_p.T1300fs|ITPR1_ENST00000423119.2_Frame_Shift_Ins_p.T1315fs|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1324					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GTTCTTACAGACAATTGTCAAG	0.406																																																	0																																										SO:0001589	frameshift_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		Exception_encountered	3.37:g.4732969_4732970insT	ENSP00000401671:p.Thr1309fs		E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Ins	INS	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1309fs	ENST00000443694.2	37	c.3925_3926	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ca-rel_channel		0.406	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	NM_002222		4732970	1	no_errors	ENST00000302640	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	4732970	-	T	4732969	7	5	3	1	0	1	1	0	0	0	0	0	7940	275	10	0	4088	0	ITPR1	3	4732969	Frame_Shift_Ins	INS	-	TCGA-BI-A20A-01A-11D-A14W-08		4732969	193289461	12	240										
SCN10A	6336	genome.wustl.edu	37	chr3	38793865	38793865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	acccagcagcagagagccccGatggctttcgtggtctccag	12	14	1	1	rs542554745		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:38793865G>A	ENST00000449082.2	-	11	1599	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	534					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAGAGCCCCGATGGCTTTCG	0.597													G|||	1	0.000199681	0	0	5008	,	,		18004	0.001		0	False		,,,				2504	0																0													59	64	63					3																	38793865		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1600C>T	3.37:g.38793865G>A	ENSP00000390600:p.Arg534Trp		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.R534W	ENST00000449082.2	37	c.1600	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465953	0.26335	.	.	ENSG00000185313	ENST00000449082	D	0.96745	-4.11	4.87	4.0	0.46444	.	0.455677	0.21429	N	0.074697	D	0.95130	0.8422	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	P	0.49999	0.628	D	0.90180	0.4242	10	0.72032	D	0.01	.	6.9079	0.24319	0.1597:0.1451:0.6952:0.0	.	534	Q9Y5Y9	SCNAA_HUMAN	W	534	ENSP00000390600:R534W	ENSP00000390600:R534W	R	-	1	2	SCN10A	38768869	0.000000	0.05858	0.037000	0.18230	0.092000	0.18411	0.097000	0.15168	1.423000	0.47198	-0.369000	0.07265	CGG	SCN10A	-	NULL		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	G	NM_006514		38793865	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	0.002	A	A	38793865	G	A	38793865	3	1	3	1	0	0	0	0	1	0	0	0	13942	1057	37	1	4338	1	SCN10A	3	38793865	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	34060896	38793865	159228565	13	241										
IMPG2	50939	genome.wustl.edu	37	chr3	100962778	100962778	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcagcactctgtggtgtactTgccaatatgtctctggacaa	9	10	3	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:100962778T>A	ENST00000193391.7	-	13	2584	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	799					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTGGTGTACTTGCCAATATGT	0.433																																																	0													91	92	92					3																	100962778		2203	4300	6503	SO:0001819	synonymous_variant	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2397A>T	3.37:g.100962778T>A			A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.A799	ENST00000193391.7	37	c.2397	CCDS2940.1	3																																																																																			IMPG2	-	NULL		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	T			100962778	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	silent	SNP	0.940	A	A	100962778	T	A	100962778	2	1	3	1	0	0	0	0	0	0	0	1	7749	1799	63	5		5	IMPG2	3	100962778	Silent	SNP	T	TCGA-BI-A20A-01A-11D-A14W-08	62168913	100962778	97059652	14	242										
HSPBAP1	79663	genome.wustl.edu	37	chr3	122459641	122459641	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tgcttggatttctactacctCagatgttctgcagcgatcaa	8	10	4	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:122459641C>G	ENST00000306103.2	-	8	1161	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	340						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCTACTACCTCAGATGTTCTG	0.443																																																	0													152	144	147					3																	122459641		2203	4300	6503	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1018G>C	3.37:g.122459641C>G	ENSP00000302562:p.Glu340Gln		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.E340Q	ENST00000306103.2	37	c.1018	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	9.495	1.101771	0.20632	.	.	ENSG00000169087	ENST00000306103	T	0.30981	1.51	5.38	-1.15	0.09709	.	1.461020	0.03465	N	0.212772	T	0.16981	0.0408	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16394	-1.0404	10	0.22109	T	0.4	.	5.188	0.15195	0.0:0.4413:0.1836:0.3751	.	340	Q96EW2	HBAP1_HUMAN	Q	340	ENSP00000302562:E340Q	ENSP00000302562:E340Q	E	-	1	0	HSPBAP1	123942331	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.137000	0.15995	-0.068000	0.12953	-0.238000	0.12139	GAG	HSPBAP1	-	NULL		0.443	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	C	NM_024610		122459641	-1	no_errors	ENST00000306103	ensembl	human	known	70_37	missense	SNP	0.000	G	G	122459641	C	G	122459641	3	3	3	1	0	0	0	0	1	0	0	0	7445	835	29	1	452	1	HSPBAP1	3	122459641	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	21496863	122459641	75562789	15	243										
ADCY5	111	genome.wustl.edu	37	chr3	123044256	123044256	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cagtgtggtgggttgtgcccGatggagttggttctctggcg	18	7	1	0	rs373154919		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:123044256G>A	ENST00000462833.1	-	8	3213	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ADCY5_ENST00000309879.5_Silent_p.I317I|ADCY5_ENST00000491190.1_Silent_p.I300I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	667					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGTTGTGCCCGATGGAGTTGG	0.582																																																	0								G	,	0,4406		0,0,2203	168	171	170		951,2001	-5.7	0.8	3		170	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	317/912,667/1262	123044256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2001C>T	3.37:g.123044256G>A			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I667	ENST00000462833.1	37	c.2001	CCDS3022.1	3																																																																																			ADCY5	-	NULL		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123044256	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	silent	SNP	0.457	A	A	123044256	G	A	123044256	2	1	3	1	0	0	0	0	0	0	0	1	297	1048	37	1		1	ADCY5	3	123044256	Silent	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	584615	123044256	74978174	16	244										
COL6A6	131873	genome.wustl.edu	37	chr3	130360553	130360553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gggaaccaggacctcctggaCgtaaggtaagtagaaaaact	12	8	0	1	rs376592854		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:130360553C>T	ENST00000358511.6	+	28	5180	c.5149C>T	c.(5149-5151)Cgt>Tgt	p.R1717C	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1717C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1717	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCTCCTGGACGTAAGGTAAG	0.383																																																	0								C	CYS/ARG	0,3596		0,0,1798	28	29	29		5149	4.9	1	3		29	1,8133		0,1,4066	no	missense	COL6A6	NM_001102608.1	180	0,1,5864	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	1717/2264	130360553	1,11729	1798	4067	5865	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5149C>T	3.37:g.130360553C>T	ENSP00000351310:p.Arg1717Cys		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1717C	ENST00000358511.6	37	c.5149	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395804	0.83011	0.0	1.23E-4	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.93366	-3.21;-3.21	5.77	4.89	0.63831	.	.	.	.	.	D	0.94634	0.8270	M	0.78285	2.405	0.40519	D	0.980812	D	0.76494	0.999	P	0.50490	0.642	D	0.95024	0.8163	9	0.56958	D	0.05	.	15.4329	0.75116	0.1397:0.8603:0.0:0.0	.	1717	A6NMZ7	CO6A6_HUMAN	C	1717	ENSP00000351310:R1717C;ENSP00000399236:R1717C	ENSP00000351310:R1717C	R	+	1	0	COL6A6	131843243	0.926000	0.31397	0.998000	0.56505	0.932000	0.56968	2.578000	0.46051	1.551000	0.49450	0.655000	0.94253	CGT	COL6A6	-	NULL		0.383	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	C	NM_001102608		130360553	1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	0.996	T	T	130360553	C	T	130360553	3	4	3	1	0	0	0	0	1	0	0	0	3708	536	19	2	5259	2	COL6A6	3	130360553	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	7316297	130360553	67661877	17	245										
ABCC5	10057	genome.wustl.edu	37	chr3	183689641	183689641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	caaggtggcatttttcatctCtatcttgatgtgaggactgg	11	7	3	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:183689641C>T	ENST00000334444.6	-	11	1711	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E491K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	491					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTTTTCATCTCTATCTTGATG	0.463																																																	0													104	100	101					3																	183689641		1941	4144	6085	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1471G>A	3.37:g.183689641C>T	ENSP00000333926:p.Glu491Lys		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E491K	ENST00000334444.6	37	c.1471	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891603	0.72524	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91945	-2.73;-2.94	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	L	0.44542	1.39	0.58432	D	0.999998	P;B	0.37824	0.609;0.024	B;B	0.33690	0.168;0.05	D	0.85603	0.1253	10	0.06236	T	0.91	-23.0356	19.1879	0.93651	0.0:1.0:0.0:0.0	.	491;491	Q86UX3;O15440	.;MRP5_HUMAN	K	491;427;491	ENSP00000333926:E491K;ENSP00000265586:E491K	ENSP00000265586:E491K	E	-	1	0	ABCC5	185172335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.471000	0.73562	2.525000	0.85131	0.655000	0.94253	GAG	ABCC5	-	NULL		0.463	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	C	NM_005688		183689641	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183689641	C	T	183689641	3	4	3	1	0	0	0	0	1	0	0	0	56	922	32	1	2922	1	ABCC5	3	183689641	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	53329088	183689641	14332789	18	246										
WDR53	348793	genome.wustl.edu	37	chr3	196287874	196287874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gcaaaagcatcacctgcataTccagtccacatgacaccagg	7	14	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:196287874T>C	ENST00000332629.5	-	3	1040	c.473A>G	c.(472-474)gAt>gGt	p.D158G	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	158										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACCTGCATATCCAGTCCACA	0.428																																																	0													73	76	75					3																	196287874		2203	4300	6503	SO:0001583	missense	348793			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"WD repeat domain containing"	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.473A>G	3.37:g.196287874T>C	ENSP00000328079:p.Asp158Gly		A0MNP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D158G	ENST00000332629.5	37	c.473	CCDS3318.1	3	.	.	.	.	.	.	.	.	.	.	T	24.4	4.521973	0.85600	.	.	ENSG00000185798	ENST00000332629;ENST00000456677	D;T	0.89270	-2.49;-0.06	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96356	0.9262	10	0.59425	D	0.04	-6.4201	15.5629	0.76262	0.0:0.0:0.0:1.0	.	158	Q7Z5U6	WDR53_HUMAN	G	158	ENSP00000328079:D158G;ENSP00000408087:D158G	ENSP00000328079:D158G	D	-	2	0	WDR53	197772271	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.148000	0.77389	2.261000	0.74972	0.533000	0.62120	GAT	WDR53	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.428	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR53	HGNC	protein_coding	OTTHUMT00000340689.1	T	NM_182627		196287874	-1	no_errors	ENST00000332629	ensembl	human	known	70_37	missense	SNP	1.000	C	C	196287874	T	C	196287874	3	2	3	1	0	0	0	0	1	0	0	0	17336	1435	50	5	611	5	WDR53	3	196287874	Missense_Mutation	SNP	T	TCGA-BI-A20A-01A-11D-A14W-08	12598233	196287874	1734556	19	247										
IQCG	84223	genome.wustl.edu	37	chr3	197639609	197639609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cgggcctcttcttcggttttCatcctgagtttctgtaagaa	9	10	4	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr3:197639609C>T	ENST00000265239.6	-	9	1324	c.900G>A	c.(898-900)atG>atA	p.M300I	IQCG_ENST00000455191.1_Missense_Mutation_p.M300I	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	300						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTTCGGTTTTCATCCTGAGTT	0.483																																																	0													168	177	174					3																	197639609		2203	4300	6503	SO:0001583	missense	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.900G>A	3.37:g.197639609C>T	ENSP00000265239:p.Met300Ile		Q9BST2|Q9HAG8	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.M300I	ENST00000265239.6	37	c.900	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118342	0.20877	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.42131	0.98;0.98	5.61	3.68	0.42216	.	0.867211	0.10250	N	0.697335	T	0.26195	0.0639	N	0.22421	0.69	0.54753	D	0.999983	B	0.18863	0.031	B	0.20767	0.031	T	0.38265	-0.9669	10	0.36615	T	0.2	-5.2814	3.4696	0.07562	0.1623:0.5023:0.2451:0.0903	.	300	Q9H095	IQCG_HUMAN	I	300	ENSP00000265239:M300I;ENSP00000407736:M300I	ENSP00000265239:M300I	M	-	3	0	IQCG	199124006	0.780000	0.28664	0.981000	0.43875	0.818000	0.46254	1.027000	0.30115	2.665000	0.90641	0.638000	0.83543	ATG	IQCG	-	NULL		0.483	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	C	NM_032263		197639609	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	missense	SNP	0.659	T	T	197639609	C	T	197639609	3	4	3	1	0	0	0	0	1	0	0	0	7830	826	29	1	447	1	IQCG	3	197639609	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	1351735	197639609	382821	20	248										
TACC3	10460	genome.wustl.edu	37	chr4	1732898	1732899	+	Splice_Site	INS	-	-	GAGA													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gactctgccctttcctccagINSgagagagccttgaactctgc							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:1732898_1732899insGAGA	ENST00000313288.4	+	6	1567_1568		c.e6-1			NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3						astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTTTCCTCCAGGAGAGAGCCTT	0.599																																					Ovarian(120;482 2294 11894 35824)												0																																										SO:0001630	splice_region_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1462-1->GAGA	4.37:g.1732899_1732902dupGAGA			Q2NKK4|Q3KQS5|Q9UMQ1	Frame_Shift_Ins	INS	pfam_TACC	p.A490fs	ENST00000313288.4	37	c.1463_1462	CCDS3352.1	4																																																																																			TACC3	-	NULL		0.599	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	-		Intron	1732899	1	no_errors	ENST00000313288	ensembl	human	known	70_37	frame_shift_ins	INS	0.082:0.084	GAGA	GAGA	1732899	-	GAGA	1732898	8	5	3	1	0	1	1	0	0	0	1	0	15533	1014	35	0	1479	0	TACC3	4	1732898	Splice_Site	INS	-	TCGA-BI-A20A-01A-11D-A14W-08		1732898	189421378	21	249										
WHSC1	7468	genome.wustl.edu	37	chr4	1944085	1944085	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gcttttgtgggagcccacacCagtcaagttggatttgaacc	11	10	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:1944085C>G	ENST00000382895.3	+	11	2312				WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000398261.1_Missense_Mutation_p.P634R|WHSC1_ENST00000503128.1_Missense_Mutation_p.P634R|WHSC1_ENST00000420906.2_3'UTR|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000508803.1_Intron	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1						anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCCACACCAGTCAAGTTG	0.408			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													177	182	180					4																	1944085		2203	4300	6503	SO:0001627	intron_variant	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1881+2580C>G	4.37:g.1944085C>G			A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,pfscan_PWWP,pfscan_HMG_superfamily	p.P634R	ENST00000382895.3	37	c.1901	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732857	0.48939	.	.	ENSG00000109685	ENST00000503128;ENST00000398261	T;T	0.37411	1.2;1.2	5.66	5.66	0.87406	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.80722	D	1	B	0.31859	0.343	B	0.36464	0.225	T	0.16600	-1.0397	8	0.52906	T	0.07	.	15.5877	0.76499	0.0:1.0:0.0:0.0	.	634	O96028-3	.	R	634	ENSP00000425761:P634R;ENSP00000381311:P634R	ENSP00000308780:P634R	P	+	2	0	WHSC1	1913883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.377000	0.52425	2.830000	0.97506	0.585000	0.79938	CCA	WHSC1	-	NULL		0.408	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	C	NM_133330		1944085	1	no_errors	ENST00000312087	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1944085	C	G	1944085	1	3	3	0	1	0	0	0	0	0	0	0	17393	594	21	4		4	WHSC1	4	1944085	Intron	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	211187	1944085	189210191	22	250										
UGT2A3	79799	genome.wustl.edu	37	chr4	69796884	69796884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tagacctaccaagaagatcaTtctggggtatccaatcatac	7	10	3	3			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:69796884T>G	ENST00000251566.4	-	4	1103	c.1073A>C	c.(1072-1074)aAt>aCt	p.N358T	UGT2A3_ENST00000420231.2_Missense_Mutation_p.N69T	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	358					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGAAGATCATTCTGGGGTAT	0.358																																																	0													143	124	130					4																	69796884		2203	4300	6503	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1073A>C	4.37:g.69796884T>G	ENSP00000251566:p.Asn358Thr		Q9H6S4	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N358T	ENST00000251566.4	37	c.1073	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510420	0.44660	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63744	-0.06;-0.06	1.99	1.99	0.26369	.	0.057318	0.64402	D	0.000002	T	0.76933	0.4057	M	0.87328	2.875	0.36710	D	0.880584	D	0.69078	0.997	D	0.70716	0.97	T	0.80504	-0.1353	10	0.87932	D	0	.	7.5652	0.27874	0.0:0.0:0.0:1.0	.	358	Q6UWM9	UD2A3_HUMAN	T	358;69	ENSP00000251566:N358T;ENSP00000440115:N69T	ENSP00000251566:N358T	N	-	2	0	UGT2A3	69831473	1.000000	0.71417	0.983000	0.44433	0.639000	0.38242	6.140000	0.71738	0.905000	0.36596	0.402000	0.26972	AAT	UGT2A3	-	pfam_UDP_glucos_trans		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	T	NM_024743		69796884	-1	no_errors	ENST00000251566	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69796884	T	G	69796884	3	3	3	1	0	0	0	0	1	0	0	0	16986	1493	52	5	522	5	UGT2A3	4	69796884	Missense_Mutation	SNP	T	TCGA-BI-A20A-01A-11D-A14W-08	67852799	69796884	121357392	23	251										
TRPC3	7222	genome.wustl.edu	37	chr4	122853996	122853996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	atgtagtccacgcagttgacGttcagcgtcttggactcctc	10	12	2	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:122853996G>A	ENST00000379645.3	-	2	490	c.417C>T	c.(415-417)aaC>aaT	p.N139N	TRPC3_ENST00000264811.5_Silent_p.N66N|TRPC3_ENST00000513531.1_Silent_p.N66N	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	54					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGCAGTTGACGTTCAGCGTCT	0.637																																																	0													62	58	59					4																	122853996		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.417C>T	4.37:g.122853996G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.N139	ENST00000379645.3	37	c.417	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.637	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	G	NM_003305		122853996	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122853996	G	A	122853996	2	1	3	1	0	0	0	0	0	0	0	1	16610	1136	40	2		2	TRPC3	4	122853996	Silent	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	53057112	122853996	68300280	24	252										
ADAD1	132612	genome.wustl.edu	37	chr4	123332499	123332499	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	acagaatatcaacatttgccTttacatgaaccagttgccta	5	10	1	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:123332499T>A	ENST00000296513.2	+	9	1156	c.971T>A	c.(970-972)cTt>cAt	p.L324H	ADAD1_ENST00000388725.2_Missense_Mutation_p.L306H|ADAD1_ENST00000388724.2_Missense_Mutation_p.L313H	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	324	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACATTTGCCTTTACATGAAC	0.353																																																	0													96	93	94					4																	123332499		2203	4300	6503	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.971T>A	4.37:g.123332499T>A	ENSP00000296513:p.Leu324His		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L324H	ENST00000296513.2	37	c.971	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	T	18.71	3.681774	0.68042	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.96774	-4.12;-4.12;-4.12	5.74	5.74	0.90152	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99577	1.0972	10	0.87932	D	0	-6.1238	16.0304	0.80574	0.0:0.0:0.0:1.0	.	313;324	Q96M93-2;Q96M93	.;ADAD1_HUMAN	H	324;313;306	ENSP00000296513:L324H;ENSP00000373376:L313H;ENSP00000373377:L306H	ENSP00000296513:L324H	L	+	2	0	ADAD1	123551949	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	6.886000	0.75611	2.193000	0.70182	0.482000	0.46254	CTT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.353	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	T	NM_139243		123332499	1	no_errors	ENST00000296513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123332499	T	A	123332499	3	1	3	1	0	0	0	0	1	0	0	0	231	1609	56	5	997	5	ADAD1	4	123332499	Missense_Mutation	SNP	T	TCGA-BI-A20A-01A-11D-A14W-08	478503	123332499	67821777	25	253										
ANKRD37	353322	genome.wustl.edu	37	chr4	186320755	186320755	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	agaacgggcaaacagctgaaGatctcgcttggtcatgtgga	13	8	2	3			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr4:186320755G>A	ENST00000335174.4	+	4	744	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		AACAGCTGAAGATCTCGCTTG	0.353																																																	0													80	78	79					4																	186320755		2203	4300	6503	SO:0001583	missense	353322			AY296056	CCDS3841.1	4q35.1	2013-01-11						"Ankyrin repeat domain containing"	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.304G>A	4.37:g.186320755G>A	ENSP00000335147:p.Asp102Asn			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D102N	ENST00000335174.4	37	c.304	CCDS3841.1	4	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885488	0.91814	.	.	ENSG00000186352	ENST00000335174	T	0.35421	1.31	6.0	6.0	0.97389	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.28522	-1.0041	10	0.30854	T	0.27	-16.9097	20.1699	0.98157	0.0:0.0:1.0:0.0	.	102;102	B4E066;Q7Z713	.;ANR37_HUMAN	N	102	ENSP00000335147:D102N	ENSP00000335147:D102N	D	+	1	0	ANKRD37	186557749	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.037000	0.76531	2.868000	0.98415	0.555000	0.69702	GAT	ANKRD37	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.353	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD37	HGNC	protein_coding	OTTHUMT00000360673.1	G	NM_181726		186320755	1	no_errors	ENST00000335174	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186320755	G	A	186320755	3	1	3	1	0	0	0	0	1	0	0	0	667	942	33	1	318	1	ANKRD37	4	186320755	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	62988256	186320755	4833521	26	254										
DNAH5	1767	genome.wustl.edu	37	chr5	13762907	13762907	+	Frame_Shift_Del	DEL	T	T	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	aggaacaaagaccagctacaTttccacatacgcgtttagca							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:13762907delT	ENST00000265104.4	-	60	10309	c.10205delA	c.(10204-10206)aatfs	p.N3402fs	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3402	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAGCTACATTTCCACATAC	0.418									Kartagener syndrome																																								0													100	96	97					5																	13762907		2203	4300	6503	SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10205delA	5.37:g.13762907delT	ENSP00000265104:p.Asn3402fs		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3402fs	ENST00000265104.4	37	c.10205	CCDS3882.1	5																																																																																			DNAH5	-	NULL		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	T	NM_001369		13762907	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	13762907	T	-	13762907	7	5	3	1	0	1	0	1	0	0	0	0	4614	1493	52	0	3749	0	DNAH5	5	13762907	Frame_Shift_Del	DEL	T	TCGA-BI-A20A-01A-11D-A14W-08		13762907	167152353	27	255										
ERCC8	1161	genome.wustl.edu	37	chr5	60186820	60186820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ataaacagcaatggtgctacCatatggtacaaaaacaaatt	6	7	0	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:60186820C>T	ENST00000265038.5	-	10	979	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	ERCC8_ENST00000543101.1_Missense_Mutation_p.G160S|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.G255S	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	313					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATGGTGCTACCATATGGTACA	0.353																																																	0													103	103	103					5																	60186820		2203	4300	6503	SO:0001583	missense	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.937G>A	5.37:g.60186820C>T	ENSP00000265038:p.Gly313Ser		B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G313S	ENST00000265038.5	37	c.937	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051340	0.36181	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	T;T;T	0.80824	-1.42;-1.42;-1.42	5.69	5.69	0.88448	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.276549	0.41294	D	0.000908	T	0.75997	0.3926	M	0.62723	1.935	0.48975	D	0.999733	B;B	0.33288	0.406;0.259	B;B	0.28553	0.06;0.091	T	0.74615	-0.3606	10	0.38643	T	0.18	-16.7145	12.6451	0.56729	0.0:0.8822:0.0:0.1178	.	160;313	B4DGZ9;Q13216	.;ERCC8_HUMAN	S	255;313;160;312	ENSP00000400110:G255S;ENSP00000265038:G313S;ENSP00000441732:G160S	ENSP00000265038:G313S	G	-	1	0	ERCC8	60222577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.461000	0.60115	2.691000	0.91804	0.563000	0.77884	GGT	ERCC8	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.353	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	C	NM_000082		60186820	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60186820	C	T	60186820	3	4	3	1	0	0	0	0	1	0	0	0	5231	594	21	4	265	4	ERCC8	5	60186820	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	46423913	60186820	120728440	28	256										
ADAMTS6	11174	genome.wustl.edu	37	chr5	64766877	64766877	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcttctccttgagtgtttatCatttttcacagtaaagctga	6	8	4	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:64766877C>T	ENST00000536360.1	-	3	1003	c.190G>A	c.(190-192)Gat>Aat	p.D64N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	64						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GAGTGTTTATCATTTTTCACA	0.378																																																	0													99	99	99					5																	64766877		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.190G>A	5.37:g.64766877C>T	ENSP00000440995:p.Asp64Asn		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D64N	ENST00000536360.1	37	c.190		5	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902780	0.33628	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.58797	0.34;0.46;0.31	5.55	5.55	0.83447	Peptidase M12B, propeptide (1);	0.182306	0.64402	D	0.000017	T	0.35248	0.0925	N	0.08118	0	0.36633	D	0.87639	B	0.15141	0.012	B	0.25759	0.063	T	0.36768	-0.9734	10	0.12430	T	0.62	.	11.1506	0.48455	0.0:0.7994:0.1299:0.0707	.	64	Q9UKP5	ATS6_HUMAN	N	64	ENSP00000370443:D64N;ENSP00000423551:D64N;ENSP00000440995:D64N	ENSP00000261306:D64N	D	-	1	0	ADAMTS6	64802633	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.710000	0.47169	2.779000	0.95612	0.491000	0.48974	GAT	ADAMTS6	-	pfam_Peptidase_M12B_N		0.378	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		C	NM_197941		64766877	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64766877	C	T	64766877	3	4	3	1	0	0	0	0	1	0	0	0	270	826	29	1	3255	1	ADAMTS6	5	64766877	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	4580057	64766877	116148383	29	257										
PCDHA1	56147	genome.wustl.edu	37	chr5	140167432	140167432	+	Silent	SNP	A	A	G													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gagagcggcaaggtgtacgcActgcagcccctggaccacga					rs370912994		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140167432A>G	ENST00000504120.2	+	1	1557	c.1557A>G	c.(1555-1557)gcA>gcG	p.A519A	PCDHA1_ENST00000394633.3_Silent_p.A519A|PCDHA1_ENST00000378133.3_Silent_p.A519A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	519	Cadherin 5. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTACGCACTGCAGCCCC	0.682																																																	0								A	,,	0,4406		0,0,2203	75	78	77		1557,1557,1557	0.4	1	5		77	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PCDHA1	NM_018900.2,NM_031410.1,NM_031411.1	,,	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	,,	519/951,519/808,519/687	140167432	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1557A>G	5.37:g.140167432A>G			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A519	ENST00000504120.2	37	c.1557	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	A	NM_018900		140167432	1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.949	G	G	140167432	A	G	140167432	2	3	3	1	0	0	0	0	0	0	0	1	11543	146	6	5		5	PCDHA1	5	140167432	Silent	SNP	A	TCGA-BI-A20A-01A-11D-A14W-08	75400555	140167432	40747828	30	258	1	2								
PCDHA1	56147	genome.wustl.edu	37	chr5	140167441	140167441	+	Silent	SNP	C	C	G													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	aaggtgtacgcactgcagccCctggaccacgaggagctgga							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140167441C>G	ENST00000504120.2	+	1	1566	c.1566C>G	c.(1564-1566)ccC>ccG	p.P522P	PCDHA1_ENST00000394633.3_Silent_p.P522P|PCDHA1_ENST00000378133.3_Silent_p.P522P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	522	Cadherin 5. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCAGCCCCTGGACCACG	0.677																																																	0													75	79	78					5																	140167441		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1566C>G	5.37:g.140167441C>G			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P522	ENST00000504120.2	37	c.1566	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140167441	1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.290	G	G	140167441	C	G	140167441	2	3	3	1	0	0	0	0	0	0	0	1	11543	610	22	4		4	PCDHA1	5	140167441	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	9	140167441	40747819	31	259	1	2								
PCDHA1	56147	genome.wustl.edu	37	chr5	140167459	140167459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cccctggaccacgaggagctGgagctgctgcagttccaggt	14	13	0	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140167459G>A	ENST00000504120.2	+	1	1584	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	PCDHA1_ENST00000394633.3_Silent_p.L528L|PCDHA1_ENST00000378133.3_Silent_p.L528L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	528	Cadherin 5. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGGAGCTGGAGCTGCTGC	0.677																																																	0													73	77	76					5																	140167459		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1584G>A	5.37:g.140167459G>A			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L528	ENST00000504120.2	37	c.1584	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	G	NM_018900		140167459	1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.997	A	A	140167459	G	A	140167459	2	1	3	1	0	0	0	0	0	0	0	1	11543	1335	47	4		4	PCDHA1	5	140167459	Silent	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	18	140167459	40747801	32	260										
PCDHA2	56146	genome.wustl.edu	37	chr5	140175999	140175999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tgtcagcgtgggatgcggacGcgcaggagaacgcgctggtg	19	9	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140175999G>A	ENST00000526136.1	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A484T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A484T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGGACGCGCAGGAGAA	0.657																																																	0													70	73	72					5																	140175999		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1450G>A	5.37:g.140175999G>A	ENSP00000431748:p.Ala484Thr		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A484T	ENST00000526136.1	37	c.1450	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	7.021	0.558774	0.13436	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.51325	0.71;0.71;0.71	3.94	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.000000	0.39475	U	0.001346	T	0.30262	0.0759	N	0.25201	0.72	0.09310	N	0.999999	P;B;B	0.35656	0.514;0.143;0.112	B;B;B	0.36885	0.061;0.235;0.039	T	0.16958	-1.0385	10	0.52906	T	0.07	.	4.9227	0.13878	0.1788:0.0:0.6466:0.1745	.	484;484;484	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	484	ENSP00000430584:A484T;ENSP00000367372:A484T;ENSP00000431748:A484T	ENSP00000367372:A484T	A	+	1	0	PCDHA2	140156183	0.000000	0.05858	0.998000	0.56505	0.306000	0.27790	-0.061000	0.11693	1.915000	0.55452	0.644000	0.83932	GCG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140175999	1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.280	A	A	140175999	G	A	140175999	3	1	3	1	0	0	0	0	1	0	0	0	11548	1087	38	2	1452	2	PCDHA2	5	140175999	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	8540	140175999	40739261	33	261										
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730746	140730746	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	atggcacattggattttgaaGagacaagtagatatgtgttg	12	3	0	3	rs549882944		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr5:140730746G>A	ENST00000523390.1	+	1	919	c.919G>A	c.(919-921)Gag>Aag	p.E307K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTTTGAAGAGACAAGTAG	0.418													.|||	1	0.000199681	0	0	5008	,	,		23444	0		0	False		,,,				2504	0.001																0													118	117	117					5																	140730746		1939	4155	6094	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.919G>A	5.37:g.140730746G>A	ENSP00000429273:p.Glu307Lys		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E307K	ENST00000523390.1	37	c.919	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	4.985	0.182961	0.09495	.	.	ENSG00000254221	ENST00000523390	T	0.01725	4.67	5.43	2.66	0.31614	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.27975	0.815	0.25808	N	0.984435	B;B	0.14012	0.002;0.009	B;B	0.17979	0.008;0.02	T	0.45293	-0.9271	9	0.25751	T	0.34	.	10.0212	0.42044	0.2219:0.0:0.7781:0.0	.	307;307	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	307	ENSP00000429273:E307K	ENSP00000429273:E307K	E	+	1	0	PCDHGB1	140710930	0.000000	0.05858	0.974000	0.42286	0.154000	0.21943	-0.663000	0.05299	0.782000	0.33613	0.563000	0.77884	GAG	PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140730746	1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.999	A	A	140730746	G	A	140730746	3	1	3	1	0	0	0	0	1	0	0	0	11586	943	33	1	921	1	PCDHGB1	5	140730746	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	554747	140730746	40184514	34	262										
SNRNP48	154007	genome.wustl.edu	37	chr6	7605687	7605688	+	Frame_Shift_Ins	INS	-	-	G													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcagcaatcattggcaagaaINSgagcaagagaaggcagagga							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:7605687_7605688insG	ENST00000342415.5	+	7	833_834	c.774_775insG	c.(775-777)gagfs	p.E259fs		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	259					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ATTGGCAAGAAGAGCAAGAGAA	0.386																																																	0																																										SO:0001589	frameshift_variant	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.775dupG	6.37:g.7605688_7605688dupG	ENSP00000339834:p.Glu259fs		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Frame_Shift_Ins	INS	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E258fs	ENST00000342415.5	37	c.774_775	CCDS4502.1	6																																																																																			SNRNP48	-	NULL		0.386	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	-	NM_152551		7605688	1	no_errors	ENST00000342415	ensembl	human	known	70_37	frame_shift_ins	INS	0.984:1.000	G	G	7605688	-	G	7605687	7	5	3	1	0	1	1	0	0	0	0	0	14887	69	3	0	800	0	SNRNP48	6	7605687	Frame_Shift_Ins	INS	-	TCGA-BI-A20A-01A-11D-A14W-08		7605687	163509380	35	263										
HIVEP1	3096	genome.wustl.edu	37	chr6	12121870	12121870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	atgtcccagggtggagtctcCaggttggagactaatgagaa	14	7	1	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:12121870C>T	ENST00000379388.2	+	4	2174	c.1842C>T	c.(1840-1842)tcC>tcT	p.S614S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	614					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGGAGTCTCCAGGTTGGAGA	0.502																																																	0													69	68	69					6																	12121870		1952	4165	6117	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1842C>T	6.37:g.12121870C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S614	ENST00000379388.2	37	c.1842	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.502	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	C	NM_002114		12121870	1	no_errors	ENST00000379388	ensembl	human	known	70_37	silent	SNP	0.042	T	T	12121870	C	T	12121870	2	4	3	1	0	0	0	0	0	0	0	1	7206	581	21	4		4	HIVEP1	6	12121870	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	4516183	12121870	158993197	36	264										
ZNF318	24149	genome.wustl.edu	37	chr6	43323777	43323777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ccatagtccccttgttttcaAtctctgaggcaaaagcagca	7	12	2	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:43323777A>G	ENST00000361428.2	-	4	1372	c.1295T>C	c.(1294-1296)aTt>aCt	p.I432T	ZNF318_ENST00000318149.3_Missense_Mutation_p.I432T	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	432					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGTTTTCAATCTCTGAGGC	0.522																																																	0													61	64	63					6																	43323777		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1295T>C	6.37:g.43323777A>G	ENSP00000354964:p.Ile432Thr		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.I432T	ENST00000361428.2	37	c.1295	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394886	0.62066	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03094	4.05;4.05	6.08	6.08	0.98989	.	0.225560	0.37530	N	0.002050	T	0.01387	0.0045	N	0.14661	0.345	0.38961	D	0.958558	P	0.42692	0.787	B	0.36666	0.23	T	0.60337	-0.7283	10	0.66056	D	0.02	-8.8556	15.2222	0.73320	1.0:0.0:0.0:0.0	.	432	Q5VUA4	ZN318_HUMAN	T	432	ENSP00000323032:I432T;ENSP00000354964:I432T	ENSP00000323032:I432T	I	-	2	0	ZNF318	43431755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.464000	0.60134	2.333000	0.79357	0.482000	0.46254	ATT	ZNF318	-	NULL		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	A	NM_014345		43323777	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43323777	A	G	43323777	3	3	3	1	0	0	0	0	1	0	0	0	17866	101	4	5	5572	5	ZNF318	6	43323777	Missense_Mutation	SNP	A	TCGA-BI-A20A-01A-11D-A14W-08	31201907	43323777	127791290	37	265										
CDC5L	988	genome.wustl.edu	37	chr6	44361207	44361207	+	Frame_Shift_Del	DEL	T	T	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	aaagctgcccaaagagacaaTgaagaggaaacaacagatga							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:44361207delT	ENST00000371477.3	+	4	635	c.336delT	c.(334-336)aatfs	p.N112fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	112					cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAAGAGACAATGAAGAGGAAA	0.398																																																	0													76	73	74					6																	44361207		2203	4300	6503	SO:0001589	frameshift_variant	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.336delT	6.37:g.44361207delT	ENSP00000360532:p.Asn112fs		Q76N46|Q99974	Frame_Shift_Del	DEL	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N112fs	ENST00000371477.3	37	c.336	CCDS4912.1	6																																																																																			CDC5L	-	superfamily_Homeodomain-like		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	T			44361207	1	no_errors	ENST00000371477	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	44361207	T	-	44361207	7	5	3	1	0	1	0	1	0	0	0	0	3087	1461	51	0	350	0	CDC5L	6	44361207	Frame_Shift_Del	DEL	T	TCGA-BI-A20A-01A-11D-A14W-08	1037430	44361207	126753860	38	266										
RFX6	222546	genome.wustl.edu	37	chr6	117199067	117199067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gtctcagaagaaaaccatcaCgcagattgtgaaggataaaa	9	7	2	4			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr6:117199067C>T	ENST00000332958.2	+	2	348	c.332C>T	c.(331-333)aCg>aTg	p.T111M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	111					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAAACCATCACGCAGATTGTG	0.483																																																	0													82	75	77					6																	117199067		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.332C>T	6.37:g.117199067C>T	ENSP00000332208:p.Thr111Met		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.T111M	ENST00000332958.2	37	c.332	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575678	0.86645	.	.	ENSG00000185002	ENST00000332958	T	0.57436	0.4	5.36	5.36	0.76844	.	0.107942	0.41097	D	0.000946	T	0.51329	0.1668	L	0.51422	1.61	0.49389	D	0.999784	D	0.63046	0.992	P	0.50791	0.65	T	0.52510	-0.8566	10	0.54805	T	0.06	-5.6506	19.2662	0.93985	0.0:1.0:0.0:0.0	.	111	Q8HWS3	RFX6_HUMAN	M	111	ENSP00000332208:T111M	ENSP00000332208:T111M	T	+	2	0	RFX6	117305760	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.328000	0.65887	2.789000	0.95967	0.591000	0.81541	ACG	RFX6	-	NULL		0.483	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117199067	1	no_errors	ENST00000332958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117199067	C	T	117199067	3	4	3	1	0	0	0	0	1	0	0	0	13297	536	19	2	338	2	RFX6	6	117199067	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	72837860	117199067	53916000	39	267										
C7orf57	136288	genome.wustl.edu	37	chr7	48092508	48092508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cagaggcttctgaaggtcctGaggacaccccaggtgaggca	14	11	1	4			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr7:48092508G>A	ENST00000348904.3	+	7	1029	c.817G>A	c.(817-819)Gag>Aag	p.E273K	C7orf57_ENST00000435376.1_Missense_Mutation_p.E135K|C7orf57_ENST00000430738.1_Missense_Mutation_p.E318K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E273K|C7orf57_ENST00000420324.1_Missense_Mutation_p.E302K	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	273										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGAAGGTCCTGAGGACACCCC	0.547																																																	0													29	33	32					7																	48092508		2007	4180	6187	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.817G>A	7.37:g.48092508G>A	ENSP00000335500:p.Glu273Lys		C9JBJ8	Missense_Mutation	SNP	NULL	p.E273K	ENST00000348904.3	37	c.817	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133977	0.37630	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.50277	0.75;0.77;0.84;0.8	5.35	2.4	0.29515	.	0.766051	0.11781	N	0.530158	T	0.42539	0.1207	M	0.63428	1.95	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.15484	0.013;0.012	T	0.41963	-0.9479	10	0.66056	D	0.02	-6.3697	5.448	0.16546	0.1978:0.1819:0.6203:0.0	.	135;273	C9JBJ8;Q8NEG2	.;CG057_HUMAN	K	302;135;318;273;273	ENSP00000394648:E302K;ENSP00000410944:E318K;ENSP00000335500:E273K;ENSP00000442474:E273K	ENSP00000335500:E273K	E	+	1	0	C7orf57	48059033	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.773000	0.26661	0.168000	0.19655	0.561000	0.74099	GAG	C7orf57	-	NULL		0.547	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	G	NM_001100159		48092508	1	no_errors	ENST00000348904	ensembl	human	known	70_37	missense	SNP	0.010	A	A	48092508	G	A	48092508	3	1	3	1	0	0	0	0	1	0	0	0	2409	1291	45	1	839	1	C7orf57	7	48092508	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		48092508	111046155	40	268										
MUC17	140453	genome.wustl.edu	37	chr7	100685735	100685735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gttcatctcctgtgactcctGaaggtaccaccatgccaatc	7	14	2	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr7:100685735G>A	ENST00000306151.4	+	3	11102	c.11038G>A	c.(11038-11040)Gaa>Aaa	p.E3680K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3680	59 X approximate tandem repeats.|Ser-rich.				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)			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)					TGTGACTCCTGAAGGTACCAC	0.522																																																	0													203	189	194					7																	100685735		2203	4300	6503	SO:0001583	missense	140453			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.11038G>A	7.37:g.100685735G>A	ENSP00000302716:p.Glu3680Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E3680K	ENST00000306151.4	37	c.11038	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	10.31	1.314294	0.23908	.	.	ENSG00000169876	ENST00000306151	T	0.03094	4.05	1.71	0.754	0.18410	.	.	.	.	.	T	0.04407	0.0121	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	P	0.60415	0.874	T	0.25363	-1.0134	9	0.06625	T	0.88	.	5.7681	0.18237	0.207:0.0:0.793:0.0	.	3680	Q685J3	MUC17_HUMAN	K	3680	ENSP00000302716:E3680K	ENSP00000302716:E3680K	E	+	1	0	MUC17	100472455	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.170000	0.09897	0.932000	0.37266	0.186000	0.17326	GAA	MUC17	-	NULL		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100685735	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.002	A	A	100685735	G	A	100685735	3	1	3	1	0	0	0	0	1	0	0	0	9997	1291	45	1	11048	1	MUC17	7	100685735	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	52593227	100685735	58452928	41	269										
ADAM28	10863	genome.wustl.edu	37	chr8	24181361	24181361	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ggacagctttataaaaagctCaatactcatgtggccttagt	8	8	2	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr8:24181361C>T	ENST00000265769.4	+	9	845	c.735C>T	c.(733-735)ctC>ctT	p.L245L	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Silent_p.L12L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Silent_p.L245L|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAAAAGCTCAATACTCATG	0.294																																					NSCLC(193;488 2149 22258 34798 40734)												0													66	67	67					8																	24181361		2203	4299	6502	SO:0001819	synonymous_variant	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.735C>T	8.37:g.24181361C>T			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L245	ENST00000265769.4	37	c.735	CCDS34865.1	8																																																																																			ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.294	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	C	NM_021778		24181361	1	no_errors	ENST00000265769	ensembl	human	known	70_37	silent	SNP	0.925	T	T	24181361	C	T	24181361	2	4	3	1	0	0	0	0	0	0	0	1	246	813	29	1		1	ADAM28	8	24181361	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08		24181361	122182661	42	270										
DMRT3	58524	genome.wustl.edu	37	chr9	990870	990870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcgcccgtccttcctgcccgCgccacggaagaccctcggat	10	19	0	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:990870C>T	ENST00000190165.2	+	2	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTCCTGCCCGCGCCACGGAAG	0.552																																																	0													82	71	75					9																	990870		2203	4300	6503	SO:0001819	synonymous_variant	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1284C>T	9.37:g.990870C>T			Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.R428	ENST00000190165.2	37	c.1284	CCDS6443.1	9																																																																																			DMRT3	-	NULL		0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	HGNC	protein_coding	OTTHUMT00000051490.1	C	NM_021240		990870	1	no_errors	ENST00000190165	ensembl	human	known	70_37	silent	SNP	0.004	T	T	990870	C	T	990870	2	4	3	1	0	0	0	0	0	0	0	1	4597	755	27	2		2	DMRT3	9	990870	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08		990870	140222561	43	271										
BAAT	570	genome.wustl.edu	37	chr9	104130403	104130404	+	Splice_Site	DEL	TT	TT	-													0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ctgaaaagacaaaaattaccTttggatgtctcaggagaaag							TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:104130403_104130404delTT	ENST00000395051.3	-	2	737_738	c.667_668delAA	c.(667-669)aag>g	p.K223fs	BAAT_ENST00000259407.2_Splice_Site_p.K223fs			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	223					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.V224fs*35(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AAAAATTACCTTTGGATGTCTC	0.436																																																	1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001630	splice_region_variant	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.669+1AA>-	9.37:g.104130403_104130404delTT			Q3B7W9|Q96L31	Frame_Shift_Del	DEL	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.K223fs	ENST00000395051.3	37	c.668_667	CCDS6752.1	9																																																																																			BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain		0.436	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	TT		Frame_Shift_Del	104130404	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.930	-	-	104130404	TT	-	104130403	8	5	3	1	0	1	0	1	0	0	1	0	1281	1623	56	0	596	0	BAAT	9	104130403	Splice_Site	DEL	TT	TCGA-BI-A20A-01A-11D-A14W-08	103139533	104130403	37083028	44	272										
DBC1	1620	genome.wustl.edu	37	chr9	122011249	122011249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ctgacctacctcccaatgtgGctgagatgagcaggtgggtg	14	10	0	3			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:122011249G>A	ENST00000265922.3	-	3	859	c.398C>T	c.(397-399)gCc>gTc	p.A133V	BRINP1_ENST00000373964.2_Missense_Mutation_p.A133V	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	133	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TCCCAATGTGGCTGAGATGAG	0.532																																																	0													100	69	79					9																	122011249		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.398C>T	9.37:g.122011249G>A	ENSP00000265922:p.Ala133Val		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.A133V	ENST00000265922.3	37	c.398	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926710	0.73327	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.82619	-1.63;-1.63	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.046986	0.85682	D	0.000000	D	0.89104	0.6620	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.994;0.992	D;P	0.62955	0.909;0.892	D	0.89277	0.3609	10	0.87932	D	0	-19.0854	20.1076	0.97898	0.0:0.0:1.0:0.0	.	133;133	O60477-2;O60477	.;DBC1_HUMAN	V	133	ENSP00000265922:A133V;ENSP00000363075:A133V	ENSP00000265922:A133V	A	-	2	0	DBC1	121051070	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.823000	0.86660	2.823000	0.97156	0.650000	0.86243	GCC	DBC1	-	pfam_MACPF,smart_MACPF		0.532	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		122011249	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122011249	G	A	122011249	3	1	3	1	0	0	0	0	1	0	0	0	4252	1203	42	4	1911	4	DBC1	9	122011249	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	17880846	122011249	19202182	45	273										
C9orf163	158055	genome.wustl.edu	37	chr9	139379423	139379423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gggctcgccttttgccgctcGcgagttcaaagaacccaaga	11	13	1	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr9:139379423G>A	ENST00000354376.1	+	1	1477	c.523G>A	c.(523-525)Gcg>Acg	p.A175T		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	175										kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TTTGCCGCTCGCGAGTTCAAA	0.622											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43	45	44					9																	139379423		2202	4299	6501	SO:0001583	missense	158055			AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.523G>A	9.37:g.139379423G>A	ENSP00000346345:p.Ala175Thr	1648		Missense_Mutation	SNP	NULL	p.A175T	ENST00000354376.1	37	c.523	CCDS7001.1	9	.	.	.	.	.	.	.	.	.	.	G	2.414	-0.334746	0.05278	.	.	ENSG00000196366	ENST00000354376	T	0.54479	0.57	1.45	-2.89	0.05665	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	9	0.87932	D	0	.	4.6225	0.12461	0.1933:0.0:0.568:0.2386	.	175	Q8N9P6	CI163_HUMAN	T	175	ENSP00000346345:A175T	ENSP00000346345:A175T	A	+	1	0	C9orf163	138499244	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.392000	0.02523	-2.151000	0.00795	-1.756000	0.00673	GCG	C9orf163	-	NULL		0.622	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf163	HGNC	protein_coding	OTTHUMT00000254644.1	G	NM_152571		139379423	1	no_errors	ENST00000354376	ensembl	human	known	70_37	missense	SNP	0.000	A	A	139379423	G	A	139379423	3	1	3	1	0	0	0	0	1	0	0	0	2472	1087	38	2	525	2	C9orf163	9	139379423	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	17368174	139379423	1834008	46	274										
KIF20B	9585	genome.wustl.edu	37	chr10	91469150	91469150	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ctgttgtgctgaaagagcctCaatgcatccttggtcggtta	11	9	1	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr10:91469150C>T	ENST00000371728.3	+	4	348	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	KIF20B_ENST00000260753.4_Nonsense_Mutation_p.Q95*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.Q95*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.Q95*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	95	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAGAGCCTCAATGCATCCT	0.368																																																	0													113	112	112					10																	91469150		2203	4300	6503	SO:0001587	stop_gained	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.283C>T	10.37:g.91469150C>T	ENSP00000360793:p.Gln95*		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q95*	ENST00000371728.3	37	c.283		10	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872283	0.33069	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	.	.	.	5.26	4.3	0.51218	.	0.000000	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-15.3905	15.0347	0.71734	0.2161:0.7839:0.0:0.0	.	.	.	.	X	95	.	ENSP00000260753:Q95X	Q	+	1	0	KIF20B	91459130	0.486000	0.25980	0.994000	0.49952	0.065000	0.16274	1.482000	0.35486	2.604000	0.88044	0.655000	0.94253	CAA	KIF20B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.368	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91469150	1	no_errors	ENST00000416354	ensembl	human	known	70_37	nonsense	SNP	0.852	T	T	91469150	C	T	91469150	4	4	3	1	0	0	0	0	0	1	0	0	8307	827	29	1	293	1	KIF20B	10	91469150	Nonsense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08		91469150	44065597	47	275										
OR4D10	390197	genome.wustl.edu	37	chr11	59245562	59245562	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ctcctggtgtcctacatagtCatattatcattacccaagtc	5	12	2	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr11:59245562C>A	ENST00000530162.1	+	1	717	c.660C>A	c.(658-660)gtC>gtA	p.V220V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTACATAGTCATATTATCAT	0.488																																																	0													81	79	80					11																	59245562		2201	4295	6496	SO:0001819	synonymous_variant	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.660C>A	11.37:g.59245562C>A			B2RNH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V220	ENST00000530162.1	37	c.660	CCDS53636.1	11																																																																																			OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	C	NM_001004705		59245562	1	no_errors	ENST00000530162	ensembl	human	known	70_37	silent	SNP	0.986	A	A	59245562	C	A	59245562	2	1	3	1	0	0	0	0	0	0	0	1	11078	813	29	3		3	OR4D10	11	59245562	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08		59245562	75760954	48	276										
MS4A6A	64231	genome.wustl.edu	37	chr11	59949162	59949162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ttgatgacatttgatgggagCactatgatggtctcattggg	13	5	1	4			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr11:59949162C>T	ENST00000530839.1	-	3	531	c.39G>A	c.(37-39)gtG>gtA	p.V13V	MS4A6A_ENST00000529054.1_Silent_p.V41V|MS4A6A_ENST00000426738.2_Silent_p.V13V|MS4A6A_ENST00000420732.2_Silent_p.V13V|MS4A6A_ENST00000412309.2_Silent_p.V41V|MS4A6A_ENST00000323961.3_Silent_p.V13V|MS4A6A_ENST00000528851.1_Silent_p.V13V|MS4A6A_ENST00000533023.1_Silent_p.V13V|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000532169.1_Silent_p.V13V	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	13						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGATGGGAGCACTATGATGG	0.438																																																	0													227	202	210					11																	59949162		2201	4295	6496	SO:0001819	synonymous_variant	64231			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.39G>A	11.37:g.59949162C>T			A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.V13	ENST00000530839.1	37	c.39	CCDS7981.1	11																																																																																			MS4A6A	-	superfamily_MFS_dom_general_subst_transpt		0.438	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	C			59949162	-1	no_errors	ENST00000323961	ensembl	human	known	70_37	silent	SNP	0.000	T	T	59949162	C	T	59949162	2	4	3	1	0	0	0	0	0	0	0	1	9887	697	25	4		4	MS4A6A	11	59949162	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	703600	59949162	75057354	49	277										
TIMELESS	8914	genome.wustl.edu	37	chr12	56811921	56811921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ggctgtcgcactattaccctCtggggatgccaggcccgctt	12	14	1	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr12:56811921C>T	ENST00000553532.1	-	27	3601	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K	TIMELESS_ENST00000554616.1_Missense_Mutation_p.E648K|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E1150K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTATTACCCTCTGGGGATGCC	0.537																																																	0													162	169	167					12																	56811921		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3451G>A	12.37:g.56811921C>T	ENSP00000450607:p.Glu1151Lys			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E1151K	ENST00000553532.1	37	c.3451	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460065	0.26248	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12465	2.68;2.68;2.68	5.05	-0.0295	0.13917	Timeless C-terminal (1);	2.956580	0.01122	N	0.005818	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31138	-0.9954	10	0.06757	T	0.87	.	8.2342	0.31616	0.0:0.5744:0.0:0.4256	.	1151	Q9UNS1	TIM_HUMAN	K	1150;1151;648	ENSP00000229201:E1150K;ENSP00000450607:E1151K;ENSP00000450848:E648K	ENSP00000229201:E1151K	E	-	1	0	TIMELESS	55098188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.413000	0.21148	-0.213000	0.10094	-0.140000	0.14226	GAG	TIMELESS	-	pfam_TIMELESS_C		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56811921	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	0.000	T	T	56811921	C	T	56811921	3	4	3	1	0	0	0	0	1	0	0	0	15934	922	32	1	187	1	TIMELESS	12	56811921	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08		56811921	77039974	50	278										
C12orf43	64897	genome.wustl.edu	37	chr12	121444193	121444193	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tgctgcttctgagatggtaaTgaagctacagggagacgaga	14	6	1	4			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr12:121444193T>A	ENST00000288757.3	-	4	314	c.292A>T	c.(292-294)Att>Ttt	p.I98F	C12orf43_ENST00000445832.3_Missense_Mutation_p.I68F|C12orf43_ENST00000539736.1_Missense_Mutation_p.I98F|C12orf43_ENST00000536407.2_Missense_Mutation_p.I98F|C12orf43_ENST00000366211.2_Missense_Mutation_p.I56F|C12orf43_ENST00000537817.1_Missense_Mutation_p.I99F	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	98										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGATGGTAATGAAGCTACAG	0.408																																																	0													159	135	143					12																	121444193		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.292A>T	12.37:g.121444193T>A	ENSP00000288757:p.Ile98Phe		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.I98F	ENST00000288757.3	37	c.292	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.057439|4.057439	0.76074|0.76074	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000536407|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.61274	.|0.17;0.15;0.17;0.12;0.36	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.047788	.|0.85682	.|D	.|0.000000	T|T	0.76449|0.76449	0.3989|0.3989	M|M	0.80847|0.80847	2.515|2.515	0.48571|0.48571	D|D	0.999677|0.999677	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.996;1.0;0.996	.|D;D;D;D;P	.|0.91635	.|0.999;0.999;0.931;0.999;0.907	T|T	0.79957|0.79957	-0.1584|-0.1584	5|10	.|0.87932	.|D	.|0	-1.1781|-1.1781	13.7513|13.7513	0.62910|0.62910	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|98;56;99;98;98	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	L|F	102|68;98;99;56;98;35;52	.|ENSP00000409788:I68F;ENSP00000288757:I98F;ENSP00000442224:I99F;ENSP00000437803:I98F;ENSP00000442041:I35F	.|ENSP00000288757:I98F	H|I	-|-	2|1	0|0	C12orf43|C12orf43	119928576|119928576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.610000|0.610000	0.37248|0.37248	4.664000|4.664000	0.61540|0.61540	2.326000|2.326000	0.78906|0.78906	0.529000|0.529000	0.55759|0.55759	CAT|ATT	C12orf43	-	NULL		0.408	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		T	NM_022895		121444193	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121444193	T	A	121444193	3	1	3	1	0	0	0	0	1	0	0	0	1693	1464	51	5	508	5	C12orf43	12	121444193	Missense_Mutation	SNP	T	TCGA-BI-A20A-01A-11D-A14W-08	64632272	121444193	12407702	51	279										
SBNO1	55206	genome.wustl.edu	37	chr12	123799990	123799990	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tatcaccatgtgtaagtgccCcctgttaaaaacaaaaattt	5	9	1	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr12:123799990C>T	ENST00000602398.1	-	23	3177	c.3050G>A	c.(3049-3051)gGg>gAg	p.G1017E	SBNO1_ENST00000602750.1_Splice_Site_p.G1016E|SBNO1_ENST00000267176.4_Splice_Site_p.G1016E|SBNO1_ENST00000420886.2_Splice_Site_p.G1017E			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1017					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTAAGTGCCCCCTGTTAAAA	0.368																																																	0													136	129	131					12																	123799990		2203	4300	6503	SO:0001630	splice_region_variant	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3049-1G>A	12.37:g.123799990C>T			Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.G1017E	ENST00000602398.1	37	c.3050	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417125	0.83449	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.74315	-0.83;-0.83	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93094	0.6502	10	0.87932	D	0	-19.7788	16.242	0.82418	0.1332:0.8668:0.0:0.0	.	1017;1016	A3KN83;A3KN83-2	SBNO1_HUMAN;.	E	1017;1016	ENSP00000387361:G1017E;ENSP00000267176:G1016E	ENSP00000267176:G1016E	G	-	2	0	SBNO1	122365943	1.000000	0.71417	0.993000	0.49108	0.693000	0.40251	6.067000	0.71193	2.715000	0.92844	0.563000	0.77884	GGG	SBNO1	-	NULL		0.368	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183	Missense_Mutation	123799990	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123799990	C	T	123799990	5	4	3	1	0	0	0	0	0	0	1	0	13892	637	22	4	1171	4	SBNO1	12	123799990	Splice_Site	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	2355797	123799990	10051905	52	280										
TP53	7157	genome.wustl.edu	37	chr17	7572982	7572982	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gttttttatggcgggaggtaGactgaccctttttggacttc	12	7	0	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:7572982G>C	ENST00000269305.4	-	11	1316	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.S376C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	376	Basic (repression of DNA-binding).|Interaction with CARM1.		S -> A (in a sporadic cancer; somatic mutation).|S -> T (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.0?(8)|p.?(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)	GCGGGAGGTAGACTGACCCTT	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	9	Whole gene deletion(8)|Unknown(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											203	182	189					17																	7572982		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1127C>G	17.37:g.7572982G>C	ENSP00000269305:p.Ser376Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.S376C	ENST00000269305.4	37	c.1127	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897178	0.33535	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	D;D	0.99282	-5.68;-5.68	5.31	4.34	0.51931	.	0.200176	0.43416	D	0.000573	D	0.98254	0.9422	M	0.75447	2.3	0.34679	D	0.72451	B	0.10296	0.003	B	0.15484	0.013	D	0.99981	1.2568	10	0.59425	D	0.04	-19.5662	11.9826	0.53129	0.0:0.1736:0.8264:0.0	.	376	P04637	P53_HUMAN	C	376;376;365;27	ENSP00000269305:S376C;ENSP00000391478:S376C	ENSP00000269305:S376C	S	-	2	0	TP53	7513707	1.000000	0.71417	0.951000	0.38953	0.657000	0.38888	2.761000	0.47589	1.475000	0.48197	-0.264000	0.10439	TCT	TP53	-	NULL		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7572982	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.956	C	C	7572982	G	C	7572982	3	2	3	1	0	0	0	0	1	0	0	0	16412	942	33	1	58	1	TP53	17	7572982	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		7572982	73622228	53	281										
GAS2L2	246176	genome.wustl.edu	37	chr17	34073404	34073404	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cagctgtcggctgcctccaaGatgggatgagagacctctcc	12	13	1	3			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:34073404G>C	ENST00000254466.6	-	6	1139	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S355C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	371					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCCTCCAAGATGGGATGAG	0.597																																																	0													55	63	61					17																	34073404		2203	4299	6502	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1112C>G	17.37:g.34073404G>C	ENSP00000254466:p.Ser371Cys		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S371C	ENST00000254466.6	37	c.1112	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930545	0.73327	.	.	ENSG00000132139	ENST00000254466	T	0.21031	2.03	4.6	1.48	0.22813	.	1.866310	0.02531	N	0.093612	T	0.25494	0.0620	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.31280	-0.9949	10	0.66056	D	0.02	-0.253	7.591	0.28021	0.0877:0.3158:0.5965:0.0	.	371	Q8NHY3	GA2L2_HUMAN	C	371	ENSP00000254466:S371C	ENSP00000254466:S371C	S	-	2	0	GAS2L2	31097517	0.334000	0.24739	0.000000	0.03702	0.610000	0.37248	2.291000	0.43540	0.189000	0.20188	0.561000	0.74099	TCT	GAS2L2	-	NULL		0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34073404	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	missense	SNP	0.000	C	C	34073404	G	C	34073404	3	2	3	1	0	0	0	0	1	0	0	0	6266	942	33	1	1534	1	GAS2L2	17	34073404	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	26500422	34073404	47121806	54	282										
TACO1	51204	genome.wustl.edu	37	chr17	61685348	61685348	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	aggatgtgattcacgtctatGataacattgaataaccaggc	9	7	2	3			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr17:61685348G>A	ENST00000258975.6	+	5	1092	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	294					regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						TCACGTCTATGATAACATTGA	0.537																																																	0													82	75	77					17																	61685348		2203	4300	6503	SO:0001583	missense	51204			BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"coiled-coil domain containing 44"	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.880G>A	17.37:g.61685348G>A	ENSP00000258975:p.Asp294Asn		B2RD21|Q8N3N6|Q9UI60	Missense_Mutation	SNP	pfam_Transcrip_reg_TACO1-like	p.D294N	ENST00000258975.6	37	c.880	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601704	0.87055	.	.	ENSG00000136463	ENST00000258975	T	0.42900	0.96	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.53344	-0.8452	10	0.05959	T	0.93	-32.5236	16.3252	0.82977	0.0:0.0:1.0:0.0	.	294	Q9BSH4	TACO1_HUMAN	N	294	ENSP00000258975:D294N	ENSP00000258975:D294N	D	+	1	0	TACO1	59039080	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.054000	0.76649	2.714000	0.92807	0.561000	0.74099	GAT	TACO1	-	pfam_Transcrip_reg_TACO1-like		0.537	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	HGNC	protein_coding	OTTHUMT00000443862.1	G	NM_016360		61685348	1	no_errors	ENST00000258975	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61685348	G	A	61685348	3	1	3	1	0	0	0	0	1	0	0	0	15534	1290	45	1	898	1	TACO1	17	61685348	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	27611944	61685348	19509862	55	283										
KIAA1632	57724	genome.wustl.edu	37	chr18	43532369	43532369	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cttcattacttacatacctcGgccttgctggtgaattgctg	8	11	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr18:43532369G>A	ENST00000282041.5	-	3	1283	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	417					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TACATACCTCGGCCTTGCTGG	0.388																																																	0													109	100	103					18																	43532369		1887	4122	6009	SO:0001587	stop_gained	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1249C>T	18.37:g.43532369G>A	ENSP00000282041:p.Arg417*		A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	NULL	p.R417*	ENST00000282041.5	37	c.1249	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430929	0.83776	.	.	ENSG00000152223	ENST00000282041	.	.	.	5.59	3.74	0.42951	.	1.567430	0.03116	N	0.163155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	5.9926	0.19476	0.0725:0.1363:0.6498:0.1415	.	.	.	.	X	417	.	ENSP00000282041:R417X	R	-	1	2	EPG5	41786367	0.079000	0.21365	0.589000	0.28718	0.034000	0.12701	1.646000	0.37249	0.783000	0.33636	0.563000	0.77884	CGA	EPG5	-	NULL		0.388	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43532369	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	nonsense	SNP	0.293	A	A	43532369	G	A	43532369	4	1	3	1	0	0	0	0	0	1	0	0	8269	1124	39	2	6658	2	KIAA1632	18	43532369	Nonsense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		43532369	34544879	56	284										
CCBE1	147372	genome.wustl.edu	37	chr18	57106986	57106986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcccattgagccccgtgggcCgggctgcccaggagggcctg	16	15	0	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr18:57106986C>T	ENST00000439986.4	-	8	875	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	280	Collagen-like 1.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCCCGTGGGCCGGGCTGCCCA	0.587																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												0													44	50	48					18																	57106986		2203	4300	6503	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.838G>A	18.37:g.57106986C>T	ENSP00000404464:p.Gly280Ser		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	pfam_Collagen,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.G280S	ENST00000439986.4	37	c.838	CCDS32838.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.204056	0.95033	.	.	ENSG00000183287	ENST00000439986	D	0.99329	-5.75	4.22	4.22	0.49857	.	0.100113	0.64402	D	0.000002	D	0.99600	0.9855	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97606	1.0126	10	0.87932	D	0	-10.6729	15.7832	0.78281	0.0:1.0:0.0:0.0	.	280;89	Q6UXH8;Q6UXH8-3	CCBE1_HUMAN;.	S	280	ENSP00000404464:G280S	ENSP00000404464:G280S	G	-	1	0	CCBE1	55257966	1.000000	0.71417	0.981000	0.43875	0.967000	0.64934	7.090000	0.76916	2.049000	0.60858	0.650000	0.86243	GGC	CCBE1	-	pfam_Collagen		0.587	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBE1	HGNC	protein_coding	OTTHUMT00000449685.2	C	NM_133459		57106986	-1	no_errors	ENST00000439986	ensembl	human	known	70_37	missense	SNP	0.999	T	T	57106986	C	T	57106986	3	4	3	1	0	0	0	0	1	0	0	0	2736	652	23	2	398	2	CCBE1	18	57106986	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	13574617	57106986	20970262	57	285										
C19orf36	113177	genome.wustl.edu	37	chr19	2097444	2097444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gtatttccccaacgagctgcGaaacatcttccgggagcagg	11	12	1	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr19:2097444G>C	ENST00000395301.3	+	3	384	c.320G>C	c.(319-321)cGa>cCa	p.R107P	IZUMO4_ENST00000395307.2_Missense_Mutation_p.R107P|IZUMO4_ENST00000395296.1_Missense_Mutation_p.R107P|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	107						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						AACGAGCTGCGAAACATCTTC	0.627											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	62	64					19																	2097444		2203	4300	6503	SO:0001583	missense	113177			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"-"	26950	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 36"	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.320G>C	19.37:g.2097444G>C	ENSP00000378712:p.Arg107Pro	9	A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	NULL	p.R154P	ENST00000395301.3	37	c.461	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250918	0.39797	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395296;ENST00000395301	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	3.56	2.52	0.30459	.	0.258733	0.20627	N	0.088665	T	0.24236	0.0587	L	0.27053	0.805	0.32371	N	0.555888	D;D	0.59767	0.986;0.986	P;P	0.52758	0.708;0.708	T	0.26467	-1.0102	10	0.87932	D	0	-17.6471	6.978	0.24688	0.1261:0.0:0.8739:0.0	.	107;107	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	P	154;107;107;107	ENSP00000378718:R154P;ENSP00000300960:R107P;ENSP00000378709:R107P;ENSP00000378712:R107P	ENSP00000300960:R107P	R	+	2	0	IZUMO4	2048444	0.904000	0.30761	0.750000	0.31169	0.285000	0.27093	3.120000	0.50430	1.088000	0.41272	0.561000	0.74099	CGA	IZUMO4	-	NULL		0.627	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	G	NM_052878		2097444	1	no_errors	ENST00000395307	ensembl	human	known	70_37	missense	SNP	0.739	C	C	2097444	G	C	2097444	3	2	3	1	0	0	0	0	1	0	0	0	1926	1058	37	1	330	1	C19orf36	19	2097444	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		2097444	57031539	58	286			1	3		2	2	15	G		3.075212e-05
C19orf36	113177	genome.wustl.edu	37	chr19	2097458	2097458	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	agctgcgaaacatcttccggGagcaggtgcacctcatccag	11	13	2	0			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr19:2097458G>T	ENST00000395301.3	+	3	398	c.334G>T	c.(334-336)Gag>Tag	p.E112*	IZUMO4_ENST00000395307.2_Nonsense_Mutation_p.E112*|IZUMO4_ENST00000395296.1_Nonsense_Mutation_p.E112*|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	112						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						CATCTTCCGGGAGCAGGTGCA	0.627											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69	63	65					19																	2097458		2203	4300	6503	SO:0001587	stop_gained	113177			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"-"	26950	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 36"	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.334G>T	19.37:g.2097458G>T	ENSP00000378712:p.Glu112*	9	A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Nonsense_Mutation	SNP	NULL	p.E159*	ENST00000395301.3	37	c.475	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814570	0.90790	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395296;ENST00000395301	.	.	.	3.56	2.51	0.30379	.	0.000000	0.38605	N	0.001634	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4439	7.0021	0.24815	0.1263:0.0:0.8737:0.0	.	.	.	.	X	159;112;112;112	.	ENSP00000300960:E112X	E	+	1	0	IZUMO4	2048458	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.395000	0.59678	1.086000	0.41228	0.561000	0.74099	GAG	IZUMO4	-	NULL		0.627	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	G	NM_052878		2097458	1	no_errors	ENST00000395307	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2097458	G	T	2097458	4	4	3	1	0	0	0	0	0	1	0	0	1926	1175	41	3	344	3	C19orf36	19	2097458	Nonsense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	14	2097458	57031525	59	287			1	3		2	2	15	G		3.075212e-05
PAK7	57144	genome.wustl.edu	37	chr20	9546627	9546627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cctgtgtgtttctcggtggcGatgcatacgatgccggttga	14	9	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:9546627G>A	ENST00000378429.3	-	6	1941	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	PAK7_ENST00000353224.5_Silent_p.I465I|PAK7_ENST00000378423.1_Silent_p.I465I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTCGGTGGCGATGCATACGA	0.527																																																	0													264	241	249					20																	9546627		2203	4300	6503	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1395C>T	20.37:g.9546627G>A			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I465	ENST00000378429.3	37	c.1395	CCDS13107.1	20																																																																																			PAK7	-	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		0.527	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	G			9546627	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	silent	SNP	0.994	A	A	9546627	G	A	9546627	2	1	3	1	0	0	0	0	0	0	0	1	11429	1048	37	1		1	PAK7	20	9546627	Silent	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08		9546627	53478893	60	288										
NINL	22981	genome.wustl.edu	37	chr20	25491352	25491352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ctgagcttctttagtgctctCggcctcttcatctgacttgg	9	12	5	2			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:25491352C>T	ENST00000278886.6	-	5	548	c.475G>A	c.(475-477)Gag>Aag	p.E159K	NINL_ENST00000422516.1_Missense_Mutation_p.E159K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	159					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTAGTGCTCTCGGCCTCTTCA	0.512																																																	0													147	129	135					20																	25491352		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.475G>A	20.37:g.25491352C>T	ENSP00000278886:p.Glu159Lys		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E159K	ENST00000278886.6	37	c.475	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027516	0.19512	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34472	1.63;1.36	5.25	3.34	0.38264	.	0.607055	0.16848	N	0.197078	T	0.23688	0.0573	L	0.45051	1.395	0.09310	N	1	B;P	0.42456	0.054;0.78	B;B	0.27500	0.017;0.08	T	0.06356	-1.0831	10	0.33940	T	0.23	-11.0719	10.7761	0.46350	0.0:0.844:0.0:0.156	.	159;159	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	159	ENSP00000278886:E159K;ENSP00000410431:E159K	ENSP00000278886:E159K	E	-	1	0	NINL	25439352	0.967000	0.33354	0.003000	0.11579	0.021000	0.10359	2.321000	0.43805	0.807000	0.34208	0.655000	0.94253	GAG	NINL	-	NULL		0.512	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25491352	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	0.082	T	T	25491352	C	T	25491352	3	4	3	1	0	0	0	0	1	0	0	0	10444	893	31	1	3753	1	NINL	20	25491352	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	15944725	25491352	37534168	61	289										
PABPC1L	80336	genome.wustl.edu	37	chr20	43564065	43564065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tcagaccacaggacccagtgGggtaggatgctgtacaccag	13	11	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:43564065G>T	ENST00000217073.2	+	11	1478	c.1478G>T	c.(1477-1479)gGg>gTg	p.G493V	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372819.1_Missense_Mutation_p.G47V|PABPC1L_ENST00000217075.2_Missense_Mutation_p.G47V|PABPC1L_ENST00000372824.1_Missense_Mutation_p.G47V|PABPC1L_ENST00000255136.3_Missense_Mutation_p.G493V			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	493					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGACCCAGTGGGGTAGGATGC	0.498																																																	0													52	51	51					20																	43564065		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1478G>T	20.37:g.43564065G>T	ENSP00000217073:p.Gly493Val		Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G493V	ENST00000217073.2	37	c.1478	CCDS42878.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.619146|1.619146	0.28801|0.28801	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372826	T;T;T;T;T|T	0.41758|0.46063	0.99;0.99;0.99;0.99;0.99|0.88	4.73|4.73	1.63|1.63	0.23807|0.23807	Polyadenylate-binding protein/Hyperplastic disc protein (1);|.	0.761815|0.761815	0.12892|0.12892	N|N	0.430532|0.430532	T|T	0.21387|0.21387	0.0515|0.0515	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.001;0.046|.	B;B|.	0.22152|.	0.001;0.038|.	T|T	0.17745|0.17745	-1.0359|-1.0359	10|8	0.32370|0.38643	T|T	0.25|0.18	.|.	5.5136|5.5136	0.16894|0.16894	0.0948:0.0:0.5343:0.3709|0.0948:0.0:0.5343:0.3709	.|.	493;47|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	V|W	493;47;47;493;47;47;47|29	ENSP00000255136:G493V;ENSP00000217073:G493V;ENSP00000361911:G47V;ENSP00000361906:G47V;ENSP00000217075:G47V|ENSP00000361913:G29W	ENSP00000217073:G493V|ENSP00000361913:G29W	G|G	+|+	2|1	0|0	PABPC1L|PABPC1L	42997479|42997479	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.425000|0.425000	0.31504|0.31504	0.086000|0.086000	0.14935|0.14935	0.278000|0.278000	0.22164|0.22164	0.655000|0.655000	0.94253|0.94253	GGG|GGG	PABPC1L	-	superfamily_PABP_HYD,tigrfam_PABP_1234		0.498	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43564065	1	no_errors	ENST00000217073	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43564065	G	T	43564065	3	4	3	1	0	0	0	0	1	0	0	0	11388	1232	43	4	1520	4	PABPC1L	20	43564065	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	18072713	43564065	19461455	62	290										
PRIC285	85441	genome.wustl.edu	37	chr20	62192594	62192594	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	acctcatgccggtccagctcGaacttccgagcctcccacaa	7	18	1	0	rs561435122		TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr20:62192594G>A	ENST00000467148.1	-	14	7056	c.6987C>T	c.(6985-6987)ttC>ttT	p.F2329F	HELZ2_ENST00000427522.2_Silent_p.F1760F	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2329	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGTCCAGCTCGAACTTCCGAG	0.632																																																	0													90	92	91					20																	62192594		2202	4300	6502	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6987C>T	20.37:g.62192594G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.F2329	ENST00000467148.1	37	c.6987	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62192594	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.079	A	A	62192594	G	A	62192594	2	1	3	1	0	0	0	0	0	0	0	1	12512	1049	37	1		1	PRIC285	20	62192594	Silent	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	18628529	62192594	832926	63	291										
HSPA13	6782	genome.wustl.edu	37	chr21	15746528	15746528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tttcctagagggcacgaagcCatatgtttgatagatctgtt	10	7	1	3			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chr21:15746528C>A	ENST00000285667.3	-	5	893	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	HSPA13_ENST00000544452.1_Missense_Mutation_p.G68C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	276						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGCACGAAGCCATATGTTTGA	0.368																																																	0													79	77	77					21																	15746528		2203	4300	6503	SO:0001583	missense	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.826G>T	21.37:g.15746528C>A	ENSP00000285667:p.Gly276Cys		B2R616|Q8NE40	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G276C	ENST00000285667.3	37	c.826	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582824	0.46006	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.12147	2.71;2.71	5.66	3.83	0.44106	.	0.239940	0.49916	D	0.000127	T	0.46852	0.1414	H	0.95043	3.615	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61797	-0.6989	10	0.66056	D	0.02	-7.4169	12.1347	0.53964	0.0:0.8609:0.0:0.1391	.	276	P48723	HSP13_HUMAN	C	276;68	ENSP00000285667:G276C;ENSP00000441986:G68C	ENSP00000285667:G276C	G	-	1	0	HSPA13	14668399	1.000000	0.71417	0.900000	0.35374	0.083000	0.17756	6.038000	0.70964	1.525000	0.49052	0.585000	0.79938	GGC	HSPA13	-	pfam_Hsp_70_fam		0.368	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	HGNC	protein_coding	OTTHUMT00000157815.1	C			15746528	-1	no_errors	ENST00000285667	ensembl	human	known	70_37	missense	SNP	0.998	A	A	15746528	C	A	15746528	3	1	3	1	0	0	0	0	1	0	0	0	7426	594	21	4	593	4	HSPA13	21	15746528	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08		15746528	32383367	64	292										
CYBB	1536	genome.wustl.edu	37	chrX	37663318	37663318	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cgcatcgttggggactggacAgaggggctgttcaatgcttg	16	8	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:37663318A>T	ENST00000378588.4	+	9	1153	c.1086A>T	c.(1084-1086)acA>acT	p.T362T	CYBB_ENST00000545017.1_Silent_p.T330T|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_Silent_p.T95T	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	362	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGGACTGGACAGAGGGGCTGT	0.478																																																	0													78	74	75					X																	37663318		2202	4300	6502	SO:0001819	synonymous_variant	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1086A>T	X.37:g.37663318A>T			A8K138|Q2PP16	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.T362	ENST00000378588.4	37	c.1086	CCDS14242.1	X																																																																																			CYBB	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.478	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	A			37663318	1	no_errors	ENST00000378588	ensembl	human	known	70_37	silent	SNP	0.824	T	T	37663318	A	T	37663318	2	4	3	1	0	0	0	0	0	0	0	1	4138	175	7	5		5	CYBB	23	37663318	Silent	SNP	A	TCGA-BI-A20A-01A-11D-A14W-08		37663318	117607242	65	293										
MED12	9968	genome.wustl.edu	37	chrX	70342153	70342153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	ccacttgcctattgccccgtCcaacctgcccatgccagagg	8	18	0	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:70342153C>A	ENST00000374080.3	+	8	1237	c.1205C>A	c.(1204-1206)tCc>tAc	p.S402Y	MED12_ENST00000333646.6_Missense_Mutation_p.S402Y|MED12_ENST00000374102.1_Missense_Mutation_p.S402Y			Q93074	MED12_HUMAN	mediator complex subunit 12	402					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATTGCCCCGTCCAACCTGCCC	0.517			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													145	129	135					X																	70342153		2048	4171	6219	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1205C>A	X.37:g.70342153C>A	ENSP00000363193:p.Ser402Tyr		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.S402Y	ENST00000374080.3	37	c.1205	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	19.70	3.876202	0.72180	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.25	5.25	0.73442	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.73194	0.3556	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.76494	0.971;0.999;0.999;0.976	P;D;D;D	0.91635	0.901;0.981;0.999;0.94	T	0.78306	-0.2255	10	0.87932	D	0	-13.6866	18.0011	0.89198	0.0:1.0:0.0:0.0	.	402;249;402;402	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	402;402;402;402;370	ENSP00000333125:S402Y;ENSP00000363215:S402Y;ENSP00000363193:S402Y;ENSP00000414203:S370Y	ENSP00000333125:S402Y	S	+	2	0	MED12	70258878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.419000	0.66435	2.441000	0.82636	0.591000	0.81541	TCC	MED12	-	pfam_Mediator_Med12_LCEWAV		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70342153	1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70342153	C	A	70342153	3	1	3	1	0	0	0	0	1	0	0	0	9451	855	30	3	1235	3	MED12	23	70342153	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	32678835	70342153	84928407	66	294										
BRWD3	254065	genome.wustl.edu	37	chrX	79932387	79932387	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	gaagcacctcttcctcctctCcctcttcccctccccctagt	3	22	3	0	rs146425236	byFrequency	TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:79932387C>G	ENST00000373275.4	-	41	5346	c.5130G>C	c.(5128-5130)ggG>ggC	p.G1710G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1710	Gly-rich.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ttcctcctctccctcttcccc	0.542																																																	0													144	110	122					X																	79932387		2203	4300	6503	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5130G>C	X.37:g.79932387C>G			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.G1710	ENST00000373275.4	37	c.5130	CCDS14447.1	X																																																																																			BRWD3	-	NULL		0.542	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252		79932387	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	0.988	G	G	79932387	C	G	79932387	2	3	3	1	0	0	0	0	0	0	0	1	1529	842	30	1		1	BRWD3	23	79932387	Silent	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	9590234	79932387	75338173	67	295										
IRS4	8471	genome.wustl.edu	37	chrX	107979294	107979294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	cgagtttgagcacgaagtagCgcctgtgcccatgcttctgt	12	11	1	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:107979294C>T	ENST00000372129.2	-	1	357	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACGAAGTAGCGCCTGTGCCC	0.632																																																	0													70	57	61					X																	107979294		2198	4296	6494	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.281G>A	X.37:g.107979294C>T	ENSP00000361202:p.Arg94His			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.R94H	ENST00000372129.2	37	c.281	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293780	0.80914	.	.	ENSG00000133124	ENST00000372129	T	0.77750	-1.12	3.8	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.072926	0.56097	D	0.000039	D	0.89083	0.6614	M	0.89785	3.06	0.47949	D	0.999551	D	0.89917	1.0	D	0.65987	0.94	D	0.91983	0.5596	10	0.87932	D	0	-8.7687	15.5517	0.76158	0.0:1.0:0.0:0.0	.	94	O14654	IRS4_HUMAN	H	94	ENSP00000361202:R94H	ENSP00000361202:R94H	R	-	2	0	IRS4	107865950	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.326000	0.79133	1.913000	0.55393	0.529000	0.55759	CGC	IRS4	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	C	NM_003604		107979294	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107979294	C	T	107979294	3	4	3	1	0	0	0	0	1	0	0	0	7862	768	27	2	3496	2	IRS4	23	107979294	Missense_Mutation	SNP	C	TCGA-BI-A20A-01A-11D-A14W-08	28046907	107979294	47291266	68	296										
MAGEC2	51438	genome.wustl.edu	37	chrX	141290713	141290713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000505534190289772	2.55396065922382	3.01002506265664	2.46767820452031	0.0015546633227606	0.0100534894871852	10	tttcactggccatgacagtgGcatcatctgcggtatcaatt	9	10	4	1			TCGA-BI-A20A-01A-11D-A14W-08	TCGA-BI-A20A-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26397cf7-5149-4147-8d13-1083d5ccf9f0	76996ad8-2d20-4af4-88c2-67aad56b06a3	g.chrX:141290713G>A	ENST00000247452.3	-	3	1408	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	354	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACAGTGGCATCATCTGC	0.478										HNSCC(46;0.14)																																							0													164	137	146					X																	141290713		2203	4300	6503	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1061C>T	X.37:g.141290713G>A	ENSP00000354660:p.Ala354Val		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A354V	ENST00000247452.3	37	c.1061	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	8.558	0.877061	0.17395	.	.	ENSG00000046774	ENST00000247452	T	0.02395	4.31	1.04	1.04	0.20106	.	.	.	.	.	T	0.03434	0.0099	L	0.55481	1.735	0.09310	N	1	B	0.28880	0.226	B	0.29524	0.103	T	0.39099	-0.9630	9	0.41790	T	0.15	.	5.056	0.14533	0.0:0.0:1.0:0.0	.	354	Q9UBF1	MAGC2_HUMAN	V	354	ENSP00000354660:A354V	ENSP00000354660:A354V	A	-	2	0	MAGEC2	141118379	0.003000	0.15002	0.002000	0.10522	0.045000	0.14185	1.792000	0.38754	0.790000	0.33803	0.284000	0.19432	GCC	MAGEC2	-	NULL		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	G	NM_016249		141290713	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	missense	SNP	0.002	A	A	141290713	G	A	141290713	3	1	3	1	0	0	0	0	1	0	0	0	9204	1203	42	4	64	4	MAGEC2	23	141290713	Missense_Mutation	SNP	G	TCGA-BI-A20A-01A-11D-A14W-08	33311419	141290713	13979847	69	297										
MAP3K6	9064	genome.wustl.edu	37	chr1	27684232	27684232	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	ttctgctcctggtgcagattCtccgccagcgctggcagctc	11	15	2	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:27684232C>G	ENST00000493901.1	-	23	3290	c.3051G>C	c.(3049-3051)gaG>gaC	p.E1017D	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1017D|MAP3K6_ENST00000374040.3_Missense_Mutation_p.E1009D	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1017					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGCAGATTCTCCGCCAGCG	0.667											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27	27	27					1																	27684232		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3051G>C	1.37:g.27684232C>G	ENSP00000419591:p.Glu1017Asp	796	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1017D	ENST00000493901.1	37	c.3051	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.440|2.440	-0.328823|-0.328823	0.05314|0.05314	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582|ENST00000472410	T;T;T|.	0.67345|.	-0.26;-0.26;-0.26|.	5.18|5.18	-0.159|-0.159	0.13379|0.13379	.|.	.|.	.|.	.|.	.|.	T|T	0.29914|0.29914	0.0748|0.0748	L|L	0.28192|0.28192	0.835|0.835	0.09310|0.09310	N|N	0.999994|0.999994	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.28681|0.28681	-1.0036|-1.0036	9|5	0.05833|.	T|.	0.94|.	.|.	8.8516|8.8516	0.35203|0.35203	0.0:0.2814:0.562:0.1565|0.0:0.2814:0.562:0.1565	.|.	1009;1017|.	O95382-3;O95382|.	.;M3K6_HUMAN|.	D|T	1009;1017;740;1017|741	ENSP00000363152:E1009D;ENSP00000419591:E1017D;ENSP00000350195:E1017D|.	ENSP00000350195:E1017D|.	E|R	-|-	3|2	2|0	MAP3K6|MAP3K6	27556819|27556819	0.000000|0.000000	0.05858|0.05858	0.157000|0.157000	0.22605|0.22605	0.163000|0.163000	0.22366|0.22366	0.184000|0.184000	0.16939|0.16939	-0.172000|-0.172000	0.10779|0.10779	-0.136000|-0.136000	0.14681|0.14681	GAG|AGA	MAP3K6	-	NULL		0.667	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	C	NM_004672		27684232	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	0.091	G	G	27684232	C	G	27684232	3	3	4	1	0	0	0	0	1	0	0	0	9277	912	32	1	847	1	MAP3K6	1	27684232	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		27684232	221566389	1	298										
CTBS	1486	genome.wustl.edu	37	chr1	85040024	85040024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gccagcagcgccagcagcgcCagcagcgctagacccgggac	14	17	0	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																																	0													3	4	4					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	1486			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T			Q5VX50	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L25	ENST00000370630.5	37	c.75	CCDS698.1	1																																																																																			CTBS	-	NULL		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2	C	NM_004388		85040024	-1	no_errors	ENST00000370630	ensembl	human	known	70_37	silent	SNP	0.006	T	T	85040024	C	T	85040024	2	4	4	1	0	0	0	0	0	0	0	1	4004	581	21	4		4	CTBS	1	85040024	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	57355792	85040024	164210597	2	299										
CGN	57530	genome.wustl.edu	37	chr1	151508792	151508792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	ccatccagattgaagacgagCggcagcatgtcaatgaccag	11	11	1	4			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:151508792C>T	ENST00000271636.7	+	19	3410	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1087					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGACGAGCGGCAGCATGT	0.473																																																	0													63	64	64					1																	151508792		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3277C>T	1.37:g.151508792C>T	ENSP00000271636:p.Arg1093Trp		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.R1093W	ENST00000271636.7	37	c.3277	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041869	0.75732	.	.	ENSG00000143375	ENST00000271636	T	0.81247	-1.47	5.65	2.34	0.29019	Myosin tail (1);	0.048549	0.85682	D	0.000000	D	0.85915	0.5808	M	0.86028	2.79	0.45867	D	0.998729	D	0.89917	1.0	D	0.97110	1.0	D	0.86677	0.1914	10	0.87932	D	0	-32.4372	9.5657	0.39396	0.33:0.5959:0.0:0.074	.	1087	Q9P2M7	CING_HUMAN	W	1093	ENSP00000271636:R1093W	ENSP00000271636:R1093W	R	+	1	2	CGN	149775416	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	0.825000	0.27393	0.717000	0.32145	0.655000	0.94253	CGG	CGN	-	pfam_Myosin_tail		0.473	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	C	NM_020770		151508792	1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.966	T	T	151508792	C	T	151508792	3	4	4	1	0	0	0	0	1	0	0	0	3308	759	27	2	3347	2	CGN	1	151508792	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	66468768	151508792	97741829	3	300										
SNTG2	54221	genome.wustl.edu	37	chr2	1271203	1271203	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtcttcaagattttgactttGaggaccagaggccctattgc	10	9	2	4			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:1271203G>A	ENST00000308624.5	+	14	1273	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SNTG2_ENST00000407292.1_Missense_Mutation_p.E255K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	382	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTTGACTTTGAGGACCAGAG	0.522																																																	0													61	58	59					2																	1271203		1924	4135	6059	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1144G>A	2.37:g.1271203G>A	ENSP00000311837:p.Glu382Lys		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E382K	ENST00000308624.5	37	c.1144	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	3.634	-0.074865	0.07184	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68903	1.17;-0.36	4.61	4.61	0.57282	Pleckstrin homology domain (1);	0.260617	0.38720	N	0.001594	T	0.56031	0.1958	L	0.50919	1.6	0.38094	D	0.937054	P;B	0.39022	0.655;0.278	B;B	0.35039	0.194;0.112	T	0.60475	-0.7256	10	0.05833	T	0.94	.	17.0422	0.86492	0.0:0.0:1.0:0.0	.	255;382	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	K	382;255	ENSP00000311837:E382K;ENSP00000385020:E255K	ENSP00000311837:E382K	E	+	1	0	SNTG2	1253784	1.000000	0.71417	0.030000	0.17652	0.799000	0.45148	3.880000	0.56145	2.076000	0.62316	0.655000	0.94253	GAG	SNTG2	-	NULL		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1271203	1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.926	A	A	1271203	G	A	1271203	3	1	4	1	0	0	0	0	1	0	0	0	14905	1291	45	1	1198	1	SNTG2	2	1271203	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08		1271203	241928170	4	301										
HPCAL1	3241	genome.wustl.edu	37	chr2	10566867	10566867	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	caggcaaactgtccttggaaGaattcatcagaggtgccaag	11	9	2	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:10566867G>C	ENST00000381765.3	+	6	1028	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E168Q	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GTCCTTGGAAGAATTCATCAG	0.582																																					Pancreas(70;1384 1800 31595 46836)												0													135	136	136					2																	10566867		2203	4300	6503	SO:0001583	missense	3241				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"EF-hand domain containing"	5145	protein-coding gene	gene with protein product	"visinin-like protein 3", "calcium-binding protein BDR-1"	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.502G>C	2.37:g.10566867G>C	ENSP00000371184:p.Glu168Gln		Q969S5	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E168Q	ENST00000381765.3	37	c.502	CCDS1671.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029157	0.93518	.	.	ENSG00000115756	ENST00000307845;ENST00000381765	D;D	0.86694	-2.16;-2.16	5.05	5.05	0.67936	EF-hand-like domain (1);	0.054652	0.64402	D	0.000001	D	0.95971	0.8688	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97578	1.0109	10	0.87932	D	0	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	168	P37235	HPCL1_HUMAN	Q	168	ENSP00000310749:E168Q;ENSP00000371184:E168Q	ENSP00000310749:E168Q	E	+	1	0	HPCAL1	10484318	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.338000	0.79540	0.650000	0.86243	GAA	HPCAL1	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.582	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	G	NM_002149		10566867	1	no_errors	ENST00000307845	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10566867	G	C	10566867	3	2	4	1	0	0	0	0	1	0	0	0	7350	943	33	1	512	1	HPCAL1	2	10566867	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	9295664	10566867	232632506	5	302										
GLI2	2736	genome.wustl.edu	37	chr2	121744182	121744182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	caccaagctgcctcccctccCgggaagtggtgagtaaaggc	12	14	0	1	rs369835105		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:121744182C>T	ENST00000452319.1	+	13	2345	c.2285C>T	c.(2284-2286)cCg>cTg	p.P762L	GLI2_ENST00000361492.4_Missense_Mutation_p.P762L|GLI2_ENST00000314490.11_Missense_Mutation_p.P434L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCCCTCCCGGGAAGTGGT	0.597																																																	0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52	57	55		2285	4.1	1	2		55	0,8600		0,0,4300	no	missense	GLI2	NM_005270.4	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	762/1587	121744182	1,13005	2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2285C>T	2.37:g.121744182C>T	ENSP00000390436:p.Pro762Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P762L	ENST00000452319.1	37	c.2285	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993594	0.54041	2.27E-4	0.0	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.88664	-2.41;-2.41;-2.41	4.98	4.11	0.48088	.	0.227351	0.46145	D	0.000312	D	0.84620	0.5512	M	0.62016	1.91	0.80722	D	1	B;P;B;P	0.52170	0.225;0.588;0.147;0.951	B;B;B;B	0.40134	0.028;0.103;0.035;0.32	T	0.82051	-0.0649	10	0.31617	T	0.26	.	9.1125	0.36737	0.0:0.7759:0.1468:0.0774	.	762;417;417;434	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	L	762;762;434	ENSP00000390436:P762L;ENSP00000354586:P762L;ENSP00000312694:P434L	ENSP00000312694:P434L	P	+	2	0	GLI2	121460652	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	2.826000	0.48104	1.327000	0.45338	0.655000	0.94253	CCG	GLI2	-	NULL		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121744182	1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121744182	C	T	121744182	3	4	4	1	0	0	0	0	1	0	0	0	6457	652	23	2	2331	2	GLI2	2	121744182	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	111177315	121744182	121455191	6	303										
POTEE	445582	genome.wustl.edu	37	chr2	132022031	132022031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	accaacacagtgctgtctggCggcaccaccatgtaccctgg	10	15	1	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:132022031C>T	ENST00000356920.5	+	15	3097	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	1001	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTGTCTGGCGGCACCACCA	0.537																																																	0													1	1	1					2																	132022031		335	417	752	SO:0001819	synonymous_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.3003C>T	2.37:g.132022031C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G1001	ENST00000356920.5	37	c.3003	CCDS46414.1	2																																																																																			POTEE	-	pfam_Actin-like,smart_Actin-like		0.537	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		C	NM_001083538		132022031	1	no_errors	ENST00000356920	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132022031	C	T	132022031	2	4	4	1	0	0	0	0	0	0	0	1	12288	755	27	2		2	POTEE	2	132022031	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	10277849	132022031	111177342	7	304										
ROBO1	6091	genome.wustl.edu	37	chr3	78987932	78987932	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tctttgtctgtctccactctCtctccccctttgtaccattc	3	17	5	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:78987932C>G	ENST00000464233.1	-	4	431	c.318G>C	c.(316-318)gaG>gaC	p.E106D	ROBO1_ENST00000436010.2_Missense_Mutation_p.E67D|ROBO1_ENST00000495273.1_Missense_Mutation_p.E67D|ROBO1_ENST00000467549.1_Missense_Mutation_p.E67D|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	106	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTCCACTCTCTCTCCCCCTT	0.478																																																	0													147	137	140					3																	78987932		1932	4132	6064	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.318G>C	3.37:g.78987932C>G	ENSP00000420321:p.Glu106Asp		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E106D	ENST00000464233.1	37	c.318	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295562	0.40594	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.53	2.33	0.28932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053446	0.64402	D	0.000001	T	0.47469	0.1447	L	0.31526	0.94	0.38943	D	0.958189	B;B;B;B	0.12630	0.006;0.001;0.001;0.001	B;B;B;B	0.26202	0.067;0.006;0.067;0.024	T	0.32693	-0.9897	9	.	.	.	.	3.7488	0.08558	0.0:0.3154:0.4047:0.28	.	106;67;67;67	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	D	67;67;106;67;67;106	ENSP00000406043:E67D;ENSP00000420321:E106D;ENSP00000420637:E67D;ENSP00000417992:E67D	.	E	-	3	2	ROBO1	79070622	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.226000	0.32563	1.316000	0.45131	0.462000	0.41574	GAG	ROBO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.478	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78987932	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78987932	C	G	78987932	3	3	4	1	0	0	0	0	1	0	0	0	13543	912	32	1	4762	1	ROBO1	3	78987932	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		78987932	119034498	8	305										
COL8A1	1295	genome.wustl.edu	37	chr3	99514229	99514229	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	aggggatcagggtttacaggGccccccaggtatcccaggga	15	11	1	0	rs34878103		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:99514229G>C	ENST00000261037.3	+	5	1864	c.1484G>C	c.(1483-1485)gGc>gCc	p.G495A	COL8A1_ENST00000273342.4_Missense_Mutation_p.G495A	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	495	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTTTACAGGGCCCCCCAGGT	0.657																																																	0													9	10	10					3																	99514229		2191	4277	6468	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1484G>C	3.37:g.99514229G>C	ENSP00000261037:p.Gly495Ala		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G495A	ENST00000261037.3	37	c.1484	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121837	0.56613	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.97850	-4.57;-4.57	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99457	1.0942	10	0.87932	D	0	.	17.849	0.88739	0.0:0.0:1.0:0.0	.	496;495	E7EPK9;P27658	.;CO8A1_HUMAN	A	495	ENSP00000261037:G495A;ENSP00000273342:G495A	ENSP00000261037:G495A	G	+	2	0	COL8A1	100996919	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.824000	0.99380	2.812000	0.96745	0.557000	0.71058	GGC	COL8A1	-	pfam_Collagen		0.657	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99514229	1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99514229	G	C	99514229	3	2	4	1	0	0	0	0	1	0	0	0	3710	1203	42	4	1490	4	COL8A1	3	99514229	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	20526297	99514229	98508201	9	306										
MRPL3	11222	genome.wustl.edu	37	chr3	131220486	131220486	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	cttaatgaatgggacattttCttcagaaagatgctcatccc	7	9	3	3			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:131220486C>G	ENST00000264995.3	-	2	313	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	MRPL3_ENST00000506946.1_5'Flank|MRPL3_ENST00000425847.2_Missense_Mutation_p.E83Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	56					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GGGACATTTTCTTCAGAAAGA	0.378																																																	0													205	209	208					3																	131220486		2203	4300	6503	SO:0001583	missense	11222			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.166G>C	3.37:g.131220486C>G	ENSP00000264995:p.Glu56Gln		Q6IBT2	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	p.E56Q	ENST00000264995.3	37	c.166	CCDS3071.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.684135|4.684135	0.88639|0.88639	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000512877|ENST00000511168	T;T|.	0.70869|.	-0.52;-0.48|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.095625|.	0.64402|.	D|.	0.000001|.	T|T	0.72020|0.72020	0.3409|0.3409	L|L	0.55990|0.55990	1.75|1.75	0.53005|0.53005	D|D	0.999965|0.999965	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.77557|.	0.99;0.986|.	T|T	0.67530|0.67530	-0.5647|-0.5647	10|5	0.72032|.	D|.	0.01|.	-7.4537|-7.4537	18.9061|18.9061	0.92462|0.92462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83;56|.	E7ETU7;P09001|.	.;RM03_HUMAN|.	Q|T	56;83;56|70	ENSP00000264995:E56Q;ENSP00000398536:E83Q|.	ENSP00000264995:E56Q|.	E|R	-|-	1|2	0|0	MRPL3|MRPL3	132703176|132703176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.781000|5.781000	0.68964|0.68964	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GAA|AGA	MRPL3	-	superfamily_Transl_elong_init/rib_B-barrel		0.378	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	C	NM_007208		131220486	-1	no_errors	ENST00000264995	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131220486	C	G	131220486	3	3	4	1	0	0	0	0	1	0	0	0	9816	922	32	1	916	1	MRPL3	3	131220486	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	31706257	131220486	66801944	10	307										
WDR49	151790	genome.wustl.edu	37	chr3	167196719	167196719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	ttcttggcataattgcttggCttttcgttcatgatgcagaa	9	7	2	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:167196719C>A	ENST00000308378.3	-	15	2346	c.2041G>T	c.(2041-2043)Gcc>Tcc	p.A681S	WDR49_ENST00000453925.2_Missense_Mutation_p.A646S|WDR49_ENST00000479765.1_3'UTR|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000476376.1_Missense_Mutation_p.A506S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	681										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATTGCTTGGCTTTTCGTTCA	0.313																																																	0													89	85	87					3																	167196719		2202	4296	6498	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.2041G>T	3.37:g.167196719C>A	ENSP00000311343:p.Ala681Ser		Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A681S	ENST00000308378.3	37	c.2041	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.312807|1.312807	0.23908|0.23908	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|T	0.54866|0.52526	0.55;1.83;0.85|0.66	5.59|5.59	2.86|2.86	0.33363|0.33363	.|.	0.343110|.	0.27270|.	N|.	0.020128|.	T|T	0.47322|0.47322	0.1439|0.1439	L|L	0.53249|0.53249	1.67|1.67	0.21147|0.21147	N|N	0.999779|0.999779	P;P|.	0.35745|.	0.518;0.518|.	B;B|.	0.30401|.	0.115;0.115|.	T|T	0.41448|0.41448	-0.9508|-0.9508	10|7	0.56958|0.62326	D|D	0.05|0.03	.|.	6.3893|6.3893	0.21577|0.21577	0.0:0.6411:0.133:0.2259|0.0:0.6411:0.133:0.2259	.|.	646;681|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	S|N	681;506;646|657	ENSP00000311343:A681S;ENSP00000420508:A506S;ENSP00000410863:A646S|ENSP00000419130:K657N	ENSP00000311343:A681S|ENSP00000419130:K657N	A|K	-|-	1|3	0|2	WDR49|WDR49	168679413|168679413	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.322000|0.322000	0.28314|0.28314	0.213000|0.213000	0.17521|0.17521	0.329000|0.329000	0.23460|0.23460	0.561000|0.561000	0.74099|0.74099	GCC|AAG	WDR49	-	NULL		0.313	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	C	NM_178824		167196719	-1	no_errors	ENST00000308378	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167196719	C	A	167196719	3	1	4	1	0	0	0	0	1	0	0	0	17333	797	28	4	56	4	WDR49	3	167196719	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	35976233	167196719	30825711	11	308										
LIN54	132660	genome.wustl.edu	37	chr4	83905636	83905636	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtttaagatcagatgtctgtGatactttgtttaaaataatc	7	4	2	3	rs376345923		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:83905636G>T	ENST00000340417.3	-	2	739	c.362C>A	c.(361-363)tCa>tAa	p.S121*	LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395282.2_Nonsense_Mutation_p.S121*|LIN54_ENST00000506560.1_Nonsense_Mutation_p.S121*|LIN54_ENST00000505397.1_Nonsense_Mutation_p.S121*|LIN54_ENST00000395283.2_Nonsense_Mutation_p.S121*|LIN54_ENST00000446851.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	121					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGATGTCTGTGATACTTTGTT	0.378																																																	0													142	143	143					4																	83905636		2203	4300	6503	SO:0001587	stop_gained	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.362C>A	4.37:g.83905636G>T	ENSP00000341947:p.Ser121*		Q32M68|Q32M69|Q6N071|Q76B60	Nonsense_Mutation	SNP	pfam_CRC	p.S121*	ENST00000340417.3	37	c.362	CCDS3599.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999662	0.74818	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.5	4.65	0.58169	.	0.211523	0.40908	D	0.000996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7221	14.0452	0.64702	0.0:0.1525:0.8475:0.0	.	.	.	.	X	121	.	ENSP00000341947:S121X	S	-	2	0	LIN54	84124660	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.201000	0.65163	1.300000	0.44818	0.655000	0.94253	TCA	LIN54	-	NULL		0.378	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2	G	NM_194282		83905636	-1	no_errors	ENST00000340417	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	83905636	G	T	83905636	4	4	4	1	0	0	0	0	0	1	0	0	8830	1294	45	3	1935	3	LIN54	4	83905636	Nonsense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08		83905636	107248640	12	309										
WDR17	116966	genome.wustl.edu	37	chr4	177046324	177046324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	agatgaagaggatccagttaCggccttggaatgggacccac	13	9	0	3			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:177046324C>T	ENST00000280190.4	+	6	836	c.680C>T	c.(679-681)aCg>aTg	p.T227M	WDR17_ENST00000508596.1_Missense_Mutation_p.T203M|WDR17_ENST00000507824.2_Missense_Mutation_p.T210M|WDR17_ENST00000393643.2_Missense_Mutation_p.T203M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GATCCAGTTACGGCCTTGGAA	0.363																																																	0													159	158	158					4																	177046324		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.680C>T	4.37:g.177046324C>T	ENSP00000280190:p.Thr227Met		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T227M	ENST00000280190.4	37	c.680	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300833	0.40694	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.66815	-0.23;-0.23;-0.23	5.61	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.240325	0.41823	D	0.000819	T	0.71239	0.3316	M	0.63428	1.95	0.48571	D	0.999672	D;D	0.71674	0.998;0.998	P;P	0.51355	0.667;0.667	T	0.71159	-0.4674	10	0.34782	T	0.22	-16.7059	14.6259	0.68621	0.0:0.9301:0.0:0.0699	.	203;227	E7EQX0;Q8IZU2	.;WDR17_HUMAN	M	203;203;227;210	ENSP00000422763:T203M;ENSP00000377258:T203M;ENSP00000280190:T227M	ENSP00000280190:T227M	T	+	2	0	WDR17	177283318	1.000000	0.71417	0.782000	0.31804	0.140000	0.21249	4.623000	0.61247	1.369000	0.46134	0.650000	0.86243	ACG	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046324	1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	0.999	T	T	177046324	C	T	177046324	3	4	4	1	0	0	0	0	1	0	0	0	17308	536	19	2	698	2	WDR17	4	177046324	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	93140688	177046324	14107952	13	310										
RHOBTB3	22836	genome.wustl.edu	37	chr5	95067706	95067706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gttgctgaacgcggccagcaCggtcgcgcgtccggtgttca	15	13	1	1	rs61749615		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:95067706C>T	ENST00000379982.3	+	2	654	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.T49M	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	49	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCGGCCAGCACGGTCGCGCGT	0.632																																																	0													70	60	63					5																	95067706		2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.146C>T	5.37:g.95067706C>T	ENSP00000369318:p.Thr49Met		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T49M	ENST00000379982.3	37	c.146	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621935	0.66787	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.64803	1.47;1.43;-0.12	4.86	4.86	0.63082	.	0.419325	0.24289	N	0.039839	T	0.43743	0.1261	N	0.08118	0	0.80722	D	1	P;P	0.45348	0.66;0.856	B;B	0.44044	0.213;0.439	T	0.40739	-0.9547	10	0.33940	T	0.23	-4.2856	11.0432	0.47844	0.1856:0.8144:0.0:0.0	rs61749615	49;49	O94955;D6RG10	RHBT3_HUMAN;.	M	55;49;49	ENSP00000423688:T55M;ENSP00000426479:T49M;ENSP00000369318:T49M	ENSP00000369318:T49M	T	+	2	0	RHOBTB3	95093462	0.039000	0.19947	1.000000	0.80357	0.989000	0.77384	3.236000	0.51336	2.394000	0.81467	0.557000	0.71058	ACG	RHOBTB3	-	NULL		0.632	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95067706	1	no_errors	ENST00000379982	ensembl	human	known	70_37	missense	SNP	0.999	T	T	95067706	C	T	95067706	3	4	4	1	0	0	0	0	1	0	0	0	13365	536	19	2	152	2	RHOBTB3	5	95067706	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		95067706	85847554	14	311			1	4		2	2	46	N	G_C	6.395815e-05
RHOBTB3	22836	genome.wustl.edu	37	chr5	95067751	95067751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtatcaggccagtgcgtttgGgaatgtcaagctggtggtcc	15	8	2	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:95067751G>T	ENST00000379982.3	+	2	699	c.191G>T	c.(190-192)gGg>gTg	p.G64V	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.G64V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	64	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AGTGCGTTTGGGAATGTCAAG	0.592																																																	0													81	67	72					5																	95067751		2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.191G>T	5.37:g.95067751G>T	ENSP00000369318:p.Gly64Val		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.G64V	ENST00000379982.3	37	c.191	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468749	0.63625	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.65364	0.4;0.18;-0.15	4.86	4.86	0.63082	.	0.070871	0.56097	D	0.000028	T	0.70378	0.3217	L	0.40543	1.245	0.80722	D	1	P;D	0.89917	0.713;1.0	P;D	0.97110	0.662;1.0	T	0.66316	-0.5954	10	0.26408	T	0.33	-9.5872	15.2512	0.73549	0.0:0.0:1.0:0.0	.	64;64	O94955;D6RG10	RHBT3_HUMAN;.	V	70;64;64	ENSP00000423688:G70V;ENSP00000426479:G64V;ENSP00000369318:G64V	ENSP00000369318:G64V	G	+	2	0	RHOBTB3	95093507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.394000	0.81467	0.557000	0.71058	GGG	RHOBTB3	-	NULL		0.592	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	G	NM_014899		95067751	1	no_errors	ENST00000379982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95067751	G	T	95067751	3	4	4	1	0	0	0	0	1	0	0	0	13365	1232	43	4	197	4	RHOBTB3	5	95067751	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	45	95067751	85847509	15	312			1	4		2	2	46	N	G_C	6.395815e-05
PCDHA11	56138	genome.wustl.edu	37	chr5	140249108	140249108	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tcgctcagagaacaaaagctGctgattgcggaatctaagca	10	9	2	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:140249108G>T	ENST00000398640.2	+	1	420	c.420G>T	c.(418-420)ctG>ctT	p.L140L	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	140					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAAAGCTGCTGATTGCGG	0.502																																																	0													100	115	110					5																	140249108		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.420G>T	5.37:g.140249108G>T			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L140	ENST00000398640.2	37	c.420	CCDS47284.1	5																																																																																			PCDHA11	-	superfamily_Cadherin-like		0.502	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249108	1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	0.336	T	T	140249108	G	T	140249108	2	4	4	1	0	0	0	0	0	0	0	1	11545	1306	46	4		4	PCDHA11	5	140249108	Silent	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	45181357	140249108	40666152	16	313										
PCDHB12	56124	genome.wustl.edu	37	chr5	140589682	140589682	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tcttcggtaaataattactaCactttggaaacagagagacc	7	8	1	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:140589682C>A	ENST00000239450.2	+	1	1392	c.1203C>A	c.(1201-1203)taC>taA	p.Y401*	PCDHB12_ENST00000541609.1_Nonsense_Mutation_p.Y64*	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATTACTACACTTTGGAAA	0.502																																																	0													67	69	68					5																	140589682		2203	4300	6503	SO:0001587	stop_gained	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1203C>A	5.37:g.140589682C>A	ENSP00000239450:p.Tyr401*		B4DDU1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y401*	ENST00000239450.2	37	c.1203	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888228	0.72524	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	.	.	.	3.87	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0514	0.42219	0.0:0.8443:0.0:0.1557	.	.	.	.	X	64;401;21	.	ENSP00000239450:Y401X	Y	+	3	2	PCDHB12	140569866	0.000000	0.05858	0.859000	0.33776	0.429000	0.31625	-0.357000	0.07651	1.864000	0.54056	0.491000	0.48974	TAC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140589682	1	no_errors	ENST00000239450	ensembl	human	known	70_37	nonsense	SNP	0.650	A	A	140589682	C	A	140589682	4	1	4	1	0	0	0	0	0	1	0	0	11561	489	17	4	1205	4	PCDHB12	5	140589682	Nonsense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	340574	140589682	40325578	17	314										
NSD1	64324	genome.wustl.edu	37	chr5	176636673	176636673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tgagtaaatgggaagccagtGttggacttgcagaacagtat	13	5	0	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:176636673G>T	ENST00000439151.2	+	5	1318	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	NSD1_ENST00000354179.4_Missense_Mutation_p.V156F|NSD1_ENST00000347982.4_Missense_Mutation_p.V156F|NSD1_ENST00000361032.4_Missense_Mutation_p.V322F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	425					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAAGCCAGTGTTGGACTTGC	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													65	63	64					5																	176636673		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1273G>T	5.37:g.176636673G>T	ENSP00000395929:p.Val425Phe		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.V425F	ENST00000439151.2	37	c.1273	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653155	0.67472	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96554	-3.92;-3.96;-3.92;-4.05	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000047	D	0.96620	0.8897	L	0.29908	0.895	0.39576	D	0.969354	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.996	D	0.98134	1.0432	10	0.87932	D	0	.	16.7769	0.85553	0.0:0.0:1.0:0.0	.	156;322;425	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	156;156;425;156;322	ENSP00000346111:V156F;ENSP00000395929:V425F;ENSP00000343209:V156F;ENSP00000354310:V322F	ENSP00000343209:V156F	V	+	1	0	NSD1	176569279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.485000	0.83878	0.591000	0.81541	GTT	NSD1	-	NULL		0.383	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176636673	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176636673	G	T	176636673	3	4	4	1	0	0	0	0	1	0	0	0	10693	1377	48	4	1287	4	NSD1	5	176636673	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	36046991	176636673	4278587	18	315										
DGKB	1607	genome.wustl.edu	37	chr7	14661096	14661096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tgctgggaaccactcttttcCtttttcactgttgattgtct	7	10	3	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:14661096C>A	ENST00000403951.2	-	15	1613	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N	DGKB_ENST00000407950.1_Missense_Mutation_p.K390N|DGKB_ENST00000444700.2_Missense_Mutation_p.K379N|DGKB_ENST00000402815.1_Missense_Mutation_p.K397N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.K398N|DGKB_ENST00000399322.3_Missense_Mutation_p.K398N|DGKB_ENST00000258767.5_Missense_Mutation_p.K398N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	398					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CACTCTTTTCCTTTTTCACTG	0.308																																																	0													142	118	126					7																	14661096		1816	4072	5888	SO:0001583	missense	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1194G>T	7.37:g.14661096C>A	ENSP00000385780:p.Lys398Asn		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K398N	ENST00000403951.2	37	c.1194	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638237	0.29157	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.80566	-1.3;-1.3;-1.3;-1.29;-1.29;-1.27;-1.39	4.86	3.02	0.34903	.	0.547104	0.19044	N	0.124212	T	0.66327	0.2778	L	0.40543	1.245	0.43745	D	0.996246	B;B;B;B	0.29341	0.142;0.0;0.001;0.242	B;B;B;B	0.23574	0.028;0.005;0.002;0.047	T	0.57808	-0.7747	10	0.21540	T	0.41	.	5.1912	0.15210	0.0:0.5825:0.0:0.4175	.	397;379;398;398	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	N	398;398;398;397;390;379;398	ENSP00000385780:K398N;ENSP00000382260:K398N;ENSP00000258767:K398N;ENSP00000384909:K397N;ENSP00000385031:K390N;ENSP00000388451:K379N;ENSP00000386066:K398N	ENSP00000258767:K398N	K	-	3	2	DGKB	14627621	0.998000	0.40836	1.000000	0.80357	0.937000	0.57800	0.434000	0.21494	1.176000	0.42840	0.313000	0.20887	AAG	DGKB	-	NULL		0.308	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	C	NM_004080		14661096	-1	no_errors	ENST00000258767	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14661096	C	A	14661096	3	1	4	1	0	0	0	0	1	0	0	0	4476	680	24	4	1283	4	DGKB	7	14661096	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		14661096	144477567	19	316										
TRA2A	29896	genome.wustl.edu	37	chr7	23552514	23552514	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	atataaaagacaaatttaccTcctttgagtcatctattctc	3	9	3	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:23552514T>C	ENST00000297071.4	-	4	740	c.524A>G	c.(523-525)gAg>gGg	p.E175G	TRA2A_ENST00000392502.4_Splice_Site_p.E74G|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Splice_Site_p.E74G	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	175	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CAAATTTACCTCCTTTGAGTC	0.348																																					Pancreas(121;2137 2973 46590)												0													72	69	70					7																	23552514		2203	4300	6503	SO:0001630	splice_region_variant	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.525+1A>G	7.37:g.23552514T>C			B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E175G	ENST00000297071.4	37	c.524	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213156	0.58452	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.17213	2.29;2.29;2.29	5.27	5.27	0.74061	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.52011	1.625	0.80722	D	1	B	0.15141	0.012	B	0.26094	0.066	T	0.03051	-1.1078	10	0.27785	T	0.31	-5.0144	15.228	0.73364	0.0:0.0:0.0:1.0	.	175	Q13595	TRA2A_HUMAN	G	175;74;74	ENSP00000297071:E175G;ENSP00000376290:E74G;ENSP00000441116:E74G	ENSP00000297071:E175G	E	-	2	0	TRA2A	23519039	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.994000	0.88315	1.999000	0.58509	0.254000	0.18369	GAG	TRA2A	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.348	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	T	NM_013293	Missense_Mutation	23552514	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23552514	T	C	23552514	5	2	4	1	0	0	0	0	0	0	1	0	16464	1565	54	5	344	5	TRA2A	7	23552514	Splice_Site	SNP	T	TCGA-C5-A0TN-01A-21D-A14W-08	8891418	23552514	135586149	20	317										
SRRT	51593	genome.wustl.edu	37	chr7	100482420	100482420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tcggagggtgatggggacaaGgaagagaagaaagaagactc	17	4	0	5			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:100482420G>A	ENST00000347433.4	+	8	1160	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SRRT_ENST00000432932.1_Silent_p.K334K|SRRT_ENST00000388793.4_Silent_p.K334K|SRRT_ENST00000457580.2_Silent_p.K334K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	334	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGGGGACAAGGAAGAGAAGA	0.512																																																	0													79	85	83					7																	100482420		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1002G>A	7.37:g.100482420G>A			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.K334	ENST00000347433.4	37	c.1002	CCDS34709.1	7																																																																																			SRRT	-	NULL		0.512	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482420	1	no_errors	ENST00000388793	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100482420	G	A	100482420	2	1	4	1	0	0	0	0	0	0	0	1	15202	991	35	4		4	SRRT	7	100482420	Silent	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	76929906	100482420	58656243	21	318										
HBP1	26959	genome.wustl.edu	37	chr7	106826854	106826854	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tctgcatgtcctccctgtcaGatgatgatgatttgggatgg	12	8	2	4			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:106826854G>T	ENST00000222574.4	+	5	775	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	HBP1_ENST00000485846.1_Missense_Mutation_p.D197Y|HBP1_ENST00000468410.1_Missense_Mutation_p.D197Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	197	Poly-Asp.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTCCCTGTCAGATGATGATGA	0.343																																																	0													197	186	190					7																	106826854		2203	4300	6503	SO:0001583	missense	26959			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.589G>T	7.37:g.106826854G>T	ENSP00000222574:p.Asp197Tyr		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily	p.D197Y	ENST00000222574.4	37	c.589	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036207	0.93630	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99394	-5.82;-5.82;-5.82	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.98;0.956	D	0.99936	1.1359	10	0.87932	D	0	-14.2922	20.206	0.98277	0.0:0.0:1.0:0.0	.	207;197;197	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	Y	197;197;197;189	ENSP00000420500:D197Y;ENSP00000222574:D197Y;ENSP00000418738:D197Y	ENSP00000222574:D197Y	D	+	1	0	HBP1	106614090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.785000	0.95823	0.655000	0.94253	GAT	HBP1	-	NULL		0.343	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	G	NM_012257		106826854	1	no_errors	ENST00000222574	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106826854	G	T	106826854	3	4	4	1	0	0	0	0	1	0	0	0	7005	942	33	3	603	3	HBP1	7	106826854	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	6344434	106826854	52311809	22	319										
ZFHX4	79776	genome.wustl.edu	37	chr8	77766275	77766275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtctggccaaacggatgcagCtaaaaacgctgctgcccctg	11	13	1	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:77766275C>T	ENST00000521891.2	+	10	7566	c.7118C>T	c.(7117-7119)gCt>gTt	p.A2373V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2347V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2328V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2328V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2328	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGATGCAGCTAAAAACGCT	0.512										HNSCC(33;0.089)																																							0													122	119	120					8																	77766275		2012	4175	6187	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7118C>T	8.37:g.77766275C>T	ENSP00000430497:p.Ala2373Val		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2373V	ENST00000521891.2	37	c.7118	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974211	0.53720	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.73;0.69;0.69	5.02	5.02	0.67125	.	0.168778	0.27996	U	0.017001	T	0.45478	0.1344	L	0.50333	1.59	0.47214	D	0.999356	B;B;B	0.30361	0.079;0.277;0.13	B;B;B	0.29942	0.035;0.109;0.076	T	0.35724	-0.9777	10	0.31617	T	0.26	.	18.5414	0.91029	0.0:1.0:0.0:0.0	.	2328;2328;2373	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2373;2357;2328;2328;2347	ENSP00000430497:A2373V;ENSP00000399605:A2328V;ENSP00000050961:A2328V;ENSP00000430848:A2347V	ENSP00000050961:A2328V	A	+	2	0	ZFHX4	77928830	1.000000	0.71417	0.768000	0.31515	0.698000	0.40448	5.619000	0.67729	2.611000	0.88343	0.650000	0.86243	GCT	ZFHX4	-	NULL		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77766275	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	0.999	T	T	77766275	C	T	77766275	3	4	4	1	0	0	0	0	1	0	0	0	17665	797	28	4	7152	4	ZFHX4	8	77766275	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		77766275	68597747	23	320										
BAI1	575	genome.wustl.edu	37	chr8	143545680	143545680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	cagacgcggggcccgggcccGagccgtgcgccacgctggtg	18	16	0	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:143545680G>A	ENST00000517894.1	+	2	1015	c.121G>A	c.(121-123)Gag>Aag	p.E41K	BAI1_ENST00000323289.5_Missense_Mutation_p.E41K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	41					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					gcccgggcccgAGCCGTGCGC	0.751																																																	0													2	3	2					8																	143545680		1138	2499	3637	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.121G>A	8.37:g.143545680G>A	ENSP00000430945:p.Glu41Lys			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.E41K	ENST00000517894.1	37	c.121		8	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559298	0.27827	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.26373	1.74;1.74	3.96	3.07	0.35406	.	1.526790	0.04792	U	0.431931	T	0.19248	0.0462	L	0.40543	1.245	0.31125	N	0.708368	P	0.47545	0.897	B	0.30316	0.114	T	0.31861	-0.9928	10	0.49607	T	0.09	.	9.3568	0.38171	0.0:0.2192:0.7807:0.0	.	41	E9PBK0	.	K	41	ENSP00000430945:E41K;ENSP00000313046:E41K	ENSP00000313046:E41K	E	+	1	0	BAI1	143542682	0.726000	0.28059	0.049000	0.19019	0.167000	0.22549	3.458000	0.53014	0.850000	0.35239	-0.502000	0.04539	GAG	BAI1	-	NULL		0.751	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143545680	1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	0.879	A	A	143545680	G	A	143545680	3	1	4	1	0	0	0	0	1	0	0	0	1299	1059	37	1	123	1	BAI1	8	143545680	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	65779405	143545680	2818342	24	321										
OBP2A	29991	genome.wustl.edu	37	chr9	138439087	138439087	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	acggaggagcctggcaaattCagcgcctgtgagcccctccc	12	15	1	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr9:138439087C>A	ENST00000539850.1	+	3	296	c.270C>A	c.(268-270)ttC>ttA	p.F90L	OBP2A_ENST00000342114.4_Missense_Mutation_p.Q46K|OBP2A_ENST00000340780.3_Missense_Mutation_p.F90L|OBP2A_ENST00000371776.1_Missense_Mutation_p.F90L			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	90				F -> Y (in Ref. 1; CAB71326). {ECO:0000305}.	response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGGCAAATTCAGCGCCTGTG	0.642																																																	0													80	73	75					9																	138439087		2203	4300	6503	SO:0001583	missense	29991			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.270C>A	9.37:g.138439087C>A	ENSP00000441028:p.Phe90Leu		Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.F90L	ENST00000539850.1	37	c.270	CCDS6992.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.79|13.79	2.341460|2.341460	0.41498|0.41498	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850|ENST00000342114	T;T;T|T	0.14391|0.08193	2.51;3.2;3.2|3.12	2.55|2.55	2.55|2.55	0.30701|0.30701	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.182885|.	0.26677|.	N|.	0.023079|.	T|T	0.11495|0.11495	0.0280|0.0280	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;B|D	0.42757|0.55172	0.789;0.064|0.97	P;B|P	0.49451|0.53146	0.611;0.122|0.719	T|T	0.20371|0.20371	-1.0277|-1.0277	10|9	0.72032|0.29301	D|T	0.01|0.29	-47.8449|-47.8449	8.7873|8.7873	0.34830|0.34830	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	90;90|46	Q5T8A5;Q9NY56|Q5T8A4	.;OBP2A_HUMAN|.	L|K	90|46	ENSP00000342097:F90L;ENSP00000360841:F90L;ENSP00000441028:F90L|ENSP00000340950:Q46K	ENSP00000342097:F90L|ENSP00000340950:Q46K	F|Q	+|+	3|1	2|0	OBP2A|OBP2A	137578908|137578908	0.003000|0.003000	0.15002|0.15002	0.005000|0.005000	0.12908|0.12908	0.006000|0.006000	0.05464|0.05464	0.712000|0.712000	0.25779|0.25779	1.732000|1.732000	0.51606|0.51606	0.451000|0.451000	0.29950|0.29950	TTC|CAG	OBP2A	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland		0.642	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	C	NM_014582		138439087	1	no_errors	ENST00000340780	ensembl	human	known	70_37	missense	SNP	0.006	A	A	138439087	C	A	138439087	3	1	4	1	0	0	0	0	1	0	0	0	10834	825	29	3	280	3	OBP2A	9	138439087	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		138439087	2774344	25	322										
C10orf113	387638	genome.wustl.edu	37	chr10	21435341	21435344	+	Frame_Shift_Del	DEL	CACT	CACT	-													0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gttgattagtaaagcacaaaCactctctctcatataagcta					rs200339723|rs45546236|rs72102767	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	CACT	CACT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:21435341_21435344delCACT	ENST00000534331.1	-	1	144_147	c.94_97delAGTG	c.(94-99)agtgttfs	p.SV32fs	C10orf113_ENST00000377118.4_Frame_Shift_Del_p.SV22fs|C10orf113_ENST00000529198.1_Frame_Shift_Del_p.SV32fs|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	32										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAAGCACAAACACTCTCTCTCATA	0.397														1260	0.251597	0.2315	0.1671	5008	,	,		20280	0.3571		0.1948	False		,,,				2504	0.2883																0									,,,	902,3362		95,712,1325					,,,	-1.1	0		dbSNP_130	149	1513,6741		144,1225,2758	no	intron,frameshift,intron,frameshift	NEBL,C10orf113	NM_213569.2,NM_001177483.1,NM_001173484.1,NM_001010896.2	,,,	239,1937,4083	A1A1,A1R,RR		18.3305,21.1538,19.2922	,,,	,,,		2415,10103				SO:0001589	frameshift_variant	387638				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.94_97delAGTG	10.37:g.21435341_21435344delCACT	ENSP00000433646:p.Ser32fs		B9EIM9|E9PRX7	Frame_Shift_Del	DEL	NULL	p.S32fs	ENST00000534331.1	37	c.97_94	CCDS31162.2	10																																																																																			C10orf113	-	NULL		0.397	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf113	HGNC	protein_coding	OTTHUMT00000047108.3	CACT	NM_001010896		21435344	-1	no_errors	ENST00000534331	ensembl	human	known	70_37	frame_shift_del	DEL	0.006:0.007:0.007:0.008	-	-	21435344	CACT	-	21435341	7	5	4	1	0	1	0	1	0	0	0	0	1588	478	17	0	413	0	C10orf113	10	21435341	Frame_Shift_Del	DEL	CACT	TCGA-C5-A0TN-01A-21D-A14W-08		21435341	114099406	26	323										
MSRB2	22921	genome.wustl.edu	37	chr10	23384552	23384552	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	ggcgtcatggcgcggctcctCtggttgctccggggcctgac	16	14	2	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:23384552C>G	ENST00000376510.3	+	1	118	c.15C>G	c.(13-15)ctC>ctG	p.L5L		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	5					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CGCGGCTCCTCTGGTTGCTCC	0.786																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)												0													2	5	4					10																	23384552		1411	3191	4602	SO:0001819	synonymous_variant	22921			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.15C>G	10.37:g.23384552C>G			Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB	p.L5	ENST00000376510.3	37	c.15	CCDS41495.1	10																																																																																			MSRB2	-	NULL		0.786	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB2	HGNC	protein_coding	OTTHUMT00000047205.1	C	NM_012228		23384552	1	no_errors	ENST00000376510	ensembl	human	known	70_37	silent	SNP	0.012	G	G	23384552	C	G	23384552	2	3	4	1	0	0	0	0	0	0	0	1	9911	900	32	1		1	MSRB2	10	23384552	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	1949211	23384552	112150195	27	324										
TDRD1	56165	genome.wustl.edu	37	chr10	115985841	115985841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtatcgtgcagttgttctggGgacatcagacactgatgtgg	14	7	2	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:115985841G>A	ENST00000369280.1	+	22	3501	c.3041G>A	c.(3040-3042)gGg>gAg	p.G1014E	TDRD1_ENST00000422662.1_Missense_Mutation_p.G618E|TDRD1_ENST00000369281.2_Missense_Mutation_p.G900E|TDRD1_ENST00000251864.2_Missense_Mutation_p.G1014E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G1014E			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1014	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTTGTTCTGGGGACATCAGAC	0.448																																																	0													168	142	151					10																	115985841		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3041G>A	10.37:g.115985841G>A	ENSP00000358286:p.Gly1014Glu		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.G1014E	ENST00000369280.1	37	c.3041		10	.	.	.	.	.	.	.	.	.	.	G	0.239	-1.014910	0.02078	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	6.01	-2.71	0.05986	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.704477	0.14697	N	0.303777	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.19073	0.001;0.026;0.033;0.021;0.005	B;B;B;B;B	0.20577	0.008;0.022;0.03;0.013;0.014	T	0.44937	-0.9295	10	0.02654	T	1	-0.2265	7.5523	0.27804	0.5839:0.1211:0.295:0.0	.	618;1014;900;1014;900	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	E	1014;1014;900;618;1014	ENSP00000358288:G1014E;ENSP00000251864:G1014E;ENSP00000358287:G900E;ENSP00000402794:G618E;ENSP00000358286:G1014E	ENSP00000251864:G1014E	G	+	2	0	TDRD1	115975831	0.728000	0.28080	0.067000	0.19924	0.662000	0.39071	0.555000	0.23422	-0.309000	0.08779	-0.355000	0.07637	GGG	TDRD1	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.448	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115985841	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.015	A	A	115985841	G	A	115985841	3	1	4	1	0	0	0	0	1	0	0	0	15760	1232	43	4	3123	4	TDRD1	10	115985841	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	92601289	115985841	19548906	28	325										
UBE4A	9354	genome.wustl.edu	37	chr11	118267042	118267042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtcccagtgaccaaacagatCcctttaaccgtagtcccctc	6	16	0	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:118267042C>A	ENST00000431736.2	+	20	3181	c.3109C>A	c.(3109-3111)Ccc>Acc	p.P1037T	RP11-770J1.5_ENST00000531742.1_5'Flank|UBE4A_ENST00000252108.3_Missense_Mutation_p.P1030T|UBE4A_ENST00000545354.1_Missense_Mutation_p.P502T					ubiquitination factor E4A									p.P1037T(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	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;3.28e-05)		CCAAACAGATCCCTTTAACCG	0.448																																																	2	Substitution - Missense(2)	liver(2)											100	96	97					11																	118267042		2200	4296	6496	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3109C>A	11.37:g.118267042C>A	ENSP00000387362:p.Pro1037Thr			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.P1037T	ENST00000431736.2	37	c.3109	CCDS8396.1	11	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845766	0.91197	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	D;D	0.97791	-4.5;-4.54	5.29	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97900	1.0302	10	0.87932	D	0	-9.8587	18.9755	0.92735	0.0:1.0:0.0:0.0	.	1030;1037	Q14139;Q14139-2	UBE4A_HUMAN;.	T	1030;1037;502	ENSP00000252108:P1030T;ENSP00000387362:P1037T	ENSP00000252108:P1030T	P	+	1	0	UBE4A	117772252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.624000	0.83124	2.458000	0.83093	0.650000	0.86243	CCC	UBE4A	-	pfam_Ubox_domain,smart_Ubox_domain		0.448	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBE4A	HGNC	protein_coding	OTTHUMT00000398143.1	C	NM_004788		118267042	1	no_errors	ENST00000431736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118267042	C	A	118267042	3	1	4	1	0	0	0	0	1	0	0	0	16913	855	30	3	3183	3	UBE4A	11	118267042	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		118267042	16739474	29	326										
C11orf63	79864	genome.wustl.edu	37	chr11	122774915	122774915	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	ggtgcccgtcgcagcaagccGttttcagagctgagcgacag	14	12	1	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:122774915G>T	ENST00000531316.1	+	2	719	c.627G>T	c.(625-627)ccG>ccT	p.P209P	C11orf63_ENST00000307257.6_Silent_p.P209P|C11orf63_ENST00000227349.2_Silent_p.P209P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	209					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAGCAAGCCGTTTTCAGAGC	0.507																																																	0													99	87	91					11																	122774915		2202	4299	6501	SO:0001819	synonymous_variant	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.627G>T	11.37:g.122774915G>T			A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	NULL	p.P209	ENST00000531316.1	37	c.627	CCDS8438.1	11																																																																																			C11orf63	-	NULL		0.507	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	G	NM_024806		122774915	1	no_errors	ENST00000227349	ensembl	human	known	70_37	silent	SNP	0.000	T	T	122774915	G	T	122774915	2	4	4	1	0	0	0	0	0	0	0	1	1658	1132	40	2		2	C11orf63	11	122774915	Silent	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	4507873	122774915	12231601	30	327										
PDZRN4	29951	genome.wustl.edu	37	chr12	41582515	41582515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	cagtgcgactaccgcgcccgCggctgcggccactcggtcag	14	17	1	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:41582515C>T	ENST00000402685.2	+	1	266	c.258C>T	c.(256-258)cgC>cgT	p.R86R		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	86							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCGCGCCCGCGGCTGCGGCC	0.741																																																	0													5	5	5					12																	41582515		1127	2923	4050	SO:0001819	synonymous_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.258C>T	12.37:g.41582515C>T			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R86	ENST00000402685.2	37	c.258	CCDS53777.1	12																																																																																			PDZRN4	-	superfamily_TRAF-like		0.741	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	C	NM_013377		41582515	1	no_errors	ENST00000402685	ensembl	human	known	70_37	silent	SNP	1.000	T	T	41582515	C	T	41582515	2	4	4	1	0	0	0	0	0	0	0	1	11734	755	27	2		2	PDZRN4	12	41582515	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		41582515	92269380	31	328										
GRASP	160622	genome.wustl.edu	37	chr12	52408605	52408605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gccgtgcccgggcgtccccgCggaggcgcccgacgggccag	18	18	0	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:52408605C>T	ENST00000293662.4	+	8	890	c.810C>T	c.(808-810)cgC>cgT	p.R270R	GRASP_ENST00000552049.1_Silent_p.R127R|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Silent_p.R127R	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	270					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCGTCCCCGCGGAGGCGCCC	0.786																																																	0													2	2	2					12																	52408605		1064	2449	3513	SO:0001819	synonymous_variant	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.810C>T	12.37:g.52408605C>T			Q6PIF8|Q7Z741	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R270	ENST00000293662.4	37	c.810	CCDS8817.1	12																																																																																			GRASP	-	NULL		0.786	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	C			52408605	1	no_errors	ENST00000293662	ensembl	human	known	70_37	silent	SNP	0.797	T	T	52408605	C	T	52408605	2	4	4	1	0	0	0	0	0	0	0	1	6775	755	27	2		2	GRASP	12	52408605	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	10826090	52408605	81443290	32	329										
UNG	7374	genome.wustl.edu	37	chr12	109537062	109537062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	cccccacaccaagtcttcacCtggacccagatgtgtgacat	7	16	2	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:109537062C>T	ENST00000242576.2	+	3	514	c.408C>T	c.(406-408)acC>acT	p.T136T	UNG_ENST00000336865.2_Silent_p.T127T	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAGTCTTCACCTGGACCCAGA	0.358								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													83	81	82					12																	109537062		2203	4300	6503	SO:0001819	synonymous_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.408C>T	12.37:g.109537062C>T				Silent	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.T136	ENST00000242576.2	37	c.408	CCDS9124.1	12																																																																																			UNG	-	superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.358	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109537062	1	no_errors	ENST00000242576	ensembl	human	known	70_37	silent	SNP	0.304	T	T	109537062	C	T	109537062	2	4	4	1	0	0	0	0	0	0	0	1	17030	668	24	4		4	UNG	12	109537062	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	57128457	109537062	24314833	33	330										
GLT25D1	79709	genome.wustl.edu	37	chr19	17666677	17666677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	ggagtcgcccctgcaggcgcCgcgcgtgctcatcgcgctgt	15	16	1	0			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:17666677C>T	ENST00000252599.4	+	1	275	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	52					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTGCAGGCGCCGCGCGTGCTC	0.781																																																	0													1	1	1					19																	17666677		629	1153	1782	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.155C>T	19.37:g.17666677C>T	ENSP00000252599:p.Pro52Leu		Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.P52L	ENST00000252599.4	37	c.155	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.569636	0.96540	.	.	ENSG00000130309	ENST00000252599	D	0.94613	-3.47	3.62	3.62	0.41486	.	0.063541	0.64402	D	0.000005	D	0.95564	0.8558	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95769	0.8807	10	0.87932	D	0	-17.2492	13.23	0.59938	0.0:1.0:0.0:0.0	.	52	Q8NBJ5	GT251_HUMAN	L	52	ENSP00000252599:P52L	ENSP00000252599:P52L	P	+	2	0	GLT25D1	17527677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.004000	0.70709	2.045000	0.60652	0.555000	0.69702	CCG	GLT25D1	-	NULL		0.781	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17666677	1	no_errors	ENST00000252599	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17666677	C	T	17666677	3	4	4	1	0	0	0	0	1	0	0	0	6485	652	23	2	157	2	GLT25D1	19	17666677	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		17666677	41462306	34	331										
LRFN1	57622	genome.wustl.edu	37	chr19	39805231	39805231	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	agtgcagggggttgccgccgAagctgacggtcagcggggtg	20	9	1	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:39805231A>C	ENST00000248668.4	-	1	745	c.746T>G	c.(745-747)tTc>tGc	p.F249C	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	249						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGCCGCCGAAGCTGACGGT	0.692																																																	0													19	23	21					19																	39805231		2165	4281	6446	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.746T>G	19.37:g.39805231A>C	ENSP00000248668:p.Phe249Cys		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F249C	ENST00000248668.4	37	c.746	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529462	0.64860	.	.	ENSG00000128011	ENST00000248668	T	0.54071	0.59	4.3	4.3	0.51218	.	0.000000	0.43110	D	0.000611	T	0.76593	0.4009	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82037	-0.0656	10	0.87932	D	0	.	11.4299	0.50034	1.0:0.0:0.0:0.0	.	249	Q9P244	LRFN1_HUMAN	C	249	ENSP00000248668:F249C	ENSP00000248668:F249C	F	-	2	0	LRFN1	44497071	1.000000	0.71417	0.993000	0.49108	0.877000	0.50540	7.284000	0.78650	1.811000	0.52892	0.402000	0.26972	TTC	LRFN1	-	NULL		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	A	NM_020862		39805231	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39805231	A	C	39805231	3	2	4	1	0	0	0	0	1	0	0	0	8960	246	9	5	1577	5	LRFN1	19	39805231	Missense_Mutation	SNP	A	TCGA-C5-A0TN-01A-21D-A14W-08	22138554	39805231	19323752	35	332										
ZNF404	342908	genome.wustl.edu	37	chr19	44378036	44378036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gatttatgttttttgaatatCatttgactaaaacatcccac	4	7	1	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:44378036C>T	ENST00000587539.1	-	3	329	c.330G>A	c.(328-330)atG>atA	p.M110I	ZNF404_ENST00000324394.6_Missense_Mutation_p.M108I	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTTTGAATATCATTTGACTAA	0.328																																																	0													136	146	143					19																	44378036		1828	4090	5918	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.330G>A	19.37:g.44378036C>T	ENSP00000466051:p.Met110Ile		A4FU30|K7ELF2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M110I	ENST00000587539.1	37	c.330	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832547	0.02713	.	.	ENSG00000176222	ENST00000324394	T	0.06218	3.33	2.99	0.738	0.18319	.	.	.	.	.	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.38693	-0.9649	9	0.72032	D	0.01	.	4.848	0.13523	0.3688:0.5146:0.0:0.1166	.	110	Q494X3	ZN404_HUMAN	I	108	ENSP00000319479:M108I	ENSP00000319479:M108I	M	-	3	0	ZNF404	49069876	0.160000	0.22878	0.039000	0.18376	0.210000	0.24377	1.132000	0.31418	0.545000	0.28902	0.404000	0.27445	ATG	ZNF404	-	NULL		0.328	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	C	NM_001033719		44378036	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44378036	C	T	44378036	3	4	4	1	0	0	0	0	1	0	0	0	17916	826	29	1	1332	1	ZNF404	19	44378036	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	4572805	44378036	14750947	36	333										
CEP250	11190	genome.wustl.edu	37	chr20	34054842	34054842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gtcgccttctcagtctatggCgggaggttgtgacattccga	13	10	2	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr20:34054842C>T	ENST00000397527.1	+	8	1264	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	CEP250_ENST00000397524.1_Missense_Mutation_p.R182W|CEP250_ENST00000342580.4_Missense_Mutation_p.R182W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	182					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGTCTATGGCGGGAGGTTGT	0.532																																																	0													87	79	82					20																	34054842		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.544C>T	20.37:g.34054842C>T	ENSP00000380661:p.Arg182Trp		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.R182W	ENST00000397527.1	37	c.544	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831735	0.71258	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.65178	1.59;1.6;-0.14;0.64	6.07	4.01	0.46588	.	0.997716	0.08115	N	0.995594	T	0.81178	0.4768	M	0.79926	2.475	0.45477	D	0.998448	D	0.89917	1.0	D	0.91635	0.999	T	0.72557	-0.4257	10	0.87932	D	0	.	13.0594	0.58997	0.384:0.616:0.0:0.0	.	182	Q9BV73	CP250_HUMAN	W	182	ENSP00000380661:R182W;ENSP00000341541:R182W;ENSP00000380658:R182W;ENSP00000413827:R182W	ENSP00000341541:R182W	R	+	1	2	CEP250	33518256	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.337000	0.33862	0.702000	0.31825	0.650000	0.86243	CGG	CEP250	-	NULL		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	C	NM_007186		34054842	1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34054842	C	T	34054842	3	4	4	1	0	0	0	0	1	0	0	0	3257	759	27	2	562	2	CEP250	20	34054842	Missense_Mutation	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		34054842	28970678	37	334										
ZNF334	55713	genome.wustl.edu	37	chr20	45130587	45130587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	agaaaaatttcccacattcaTtacattcataagacttcttt	2	9	3	2			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr20:45130587T>C	ENST00000347606.4	-	5	1573	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	ZNF334_ENST00000457685.2_Missense_Mutation_p.N426S|ZNF334_ENST00000593880.1_Missense_Mutation_p.N487S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CCCACATTCATTACATTCATA	0.363																																																	0													99	97	98					20																	45130587		2203	4299	6502	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1391A>G	20.37:g.45130587T>C	ENSP00000255129:p.Asn464Ser		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N464S	ENST00000347606.4	37	c.1391	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	T	7.167	0.586914	0.13749	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.50277	0.75;0.75	3.45	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23492	0.0568	N	0.16098	0.37	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.12837	0.006;0.006;0.008	T	0.19679	-1.0298	9	0.20046	T	0.44	.	4.7442	0.13029	0.0:0.3488:0.3191:0.3321	.	426;464;487	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	S	426;464	ENSP00000402582:N426S;ENSP00000255129:N464S	ENSP00000255129:N464S	N	-	2	0	ZNF334	44563994	0.000000	0.05858	0.000000	0.03702	0.986000	0.74619	-4.884000	0.00174	-0.696000	0.05098	0.482000	0.46254	AAT	ZNF334	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	T			45130587	-1	no_errors	ENST00000347606	ensembl	human	known	70_37	missense	SNP	0.000	C	C	45130587	T	C	45130587	3	2	4	1	0	0	0	0	1	0	0	0	17881	1493	52	5	655	5	ZNF334	20	45130587	Missense_Mutation	SNP	T	TCGA-C5-A0TN-01A-21D-A14W-08	11075745	45130587	17894933	38	335										
RNF160	26046	genome.wustl.edu	37	chr21	30339080	30339080	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gaggagacaaaaggcctgaaGaattatgagtgagagaaggt	15	3	0	6			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr21:30339080G>T	ENST00000361371.5	-	10	1812	c.1733C>A	c.(1732-1734)tCt>tAt	p.S578Y	LTN1_ENST00000389194.2_Missense_Mutation_p.S624Y|LTN1_ENST00000389195.2_Missense_Mutation_p.S624Y			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	578					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAGGCCTGAAGAATTATGAGT	0.353																																																	0													59	56	57					21																	30339080		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1733C>A	21.37:g.30339080G>T	ENSP00000354977:p.Ser578Tyr		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.S578Y	ENST00000361371.5	37	c.1733		21	.	.	.	.	.	.	.	.	.	.	G	2.990	-0.208360	0.06180	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.24723	2.18;2.19;1.84	5.02	0.129	0.14739	.	1.261650	0.04804	N	0.434037	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.19418	-1.0306	10	0.02654	T	1	.	1.7599	0.02990	0.1696:0.3795:0.2:0.2509	.	578	O94822	LTN1_HUMAN	Y	624;578;624	ENSP00000373846:S624Y;ENSP00000354977:S578Y;ENSP00000373847:S624Y	ENSP00000354977:S578Y	S	-	2	0	LTN1	29260951	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.484000	0.06528	0.112000	0.17975	-0.127000	0.14921	TCT	LTN1	-	NULL		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	G	NM_015565		30339080	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30339080	G	T	30339080	3	4	4	1	0	0	0	0	1	0	0	0	13485	942	33	3	3651	3	RNF160	21	30339080	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08		30339080	17790815	39	336										
SGSM1	129049	genome.wustl.edu	37	chr22	25320198	25320198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gcaagtcctgaagctggcgcGggacctcgtgtacaaggtgc	15	11	0	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:25320198G>A	ENST00000400359.4	+	26	3411	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	SGSM1_ENST00000400358.4_Missense_Mutation_p.R1080Q	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1135						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGCTGGCGCGGGACCTCGTG	0.562																																																	0													50	57	55					22																	25320198		2042	4200	6242	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3404G>A	22.37:g.25320198G>A	ENSP00000383212:p.Arg1135Gln		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R1135Q	ENST00000400359.4	37	c.3404	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	25.2	4.615319	0.87359	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.23552	1.9;1.9	4.74	4.74	0.60224	Rab-GAP/TBC domain (1);	0.056221	0.64402	D	0.000001	T	0.24624	0.0597	M	0.77820	2.39	0.53005	D	0.999963	B;P;P;P	0.42827	0.034;0.791;0.76;0.775	B;B;B;B	0.27380	0.021;0.079;0.074;0.067	T	0.21552	-1.0242	10	0.87932	D	0	-44.0832	10.8223	0.46612	0.0859:0.0:0.9141:0.0	.	1080;1135;1152;1135	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	Q	1135;1080;1135	ENSP00000383211:R1080Q;ENSP00000383212:R1135Q	ENSP00000383211:R1080Q	R	+	2	0	SGSM1	23650198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.773000	0.85462	2.622000	0.88805	0.563000	0.77884	CGG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25320198	1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25320198	G	A	25320198	3	1	4	1	0	0	0	0	1	0	0	0	14252	1116	39	2	3506	2	SGSM1	22	25320198	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08		25320198	25984368	40	337										
MYH9	4627	genome.wustl.edu	37	chr22	36689418	36689419	+	In_Frame_Ins	INS	-	-	CCT													0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	cttctccaggttgtgcttggINScctcctcctcctcctccagc							TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:36689418_36689419insCCT	ENST00000216181.5	-	30	4281_4282	c.4051_4052insAGG	c.(4051-4053)gcc>gAGGcc	p.1350_1351insE		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTTGTGCTTGGCCTCCTCCTCC	0.653			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0																																										SO:0001652	inframe_insertion	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051dupAGG	22.37:g.36689425_36689427dupCCT	ENSP00000216181:p.Glu1350_Glu1350dup		A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.1351in_frame_insE	ENST00000216181.5	37	c.4052_4051	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.653	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	NM_002473		36689419	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	CCT	CCT	36689419	-	CCT	36689418	7	5	4	1	0	1	1	0	0	0	0	0	10065	1203	42	0	1878	0	MYH9	22	36689418	In_Frame_Ins	INS	-	TCGA-C5-A0TN-01A-21D-A14W-08	11369220	36689418	14615148	41	338										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766524	27766524	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	gagaaatcatcctgccaaatCatccagttcctaaaggggag	9	10	2	1			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:27766524C>A	ENST00000451261.2	+	5	1911	c.1512C>A	c.(1510-1512)atC>atA	p.I504I		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	504										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGCCAAATCATCCAGTTCC	0.483																																																	0													110	85	93					X																	27766524		692	1591	2283	SO:0001819	synonymous_variant	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1512C>A	X.37:g.27766524C>A			B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I504	ENST00000451261.2	37	c.1512	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.483	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27766524	1	no_errors	ENST00000451261	ensembl	human	known	70_37	silent	SNP	0.014	A	A	27766524	C	A	27766524	2	1	4	1	0	0	0	0	0	0	0	1	4283	816	29	3		3	DCAF8L2	23	27766524	Silent	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08		27766524	127504036	42	339										
ATRX	546	genome.wustl.edu	37	chrX	76814318	76814318	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	aaatgataaataatcgtcctCtgaaaatgaaaatatagaat	5	4	1	4			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:76814318C>T	ENST00000373344.5	-	29	6541		c.e29-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAATCGTCCTCTGAAAATGAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											36	35	35					X																	76814318		2188	4286	6474	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6327-1G>A	X.37:g.76814318C>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	-	e29-1	ENST00000373344.5	37	c.6327-1	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176798	0.57692	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8291	0.88676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76700974	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.487000	0.81328	2.141000	0.66446	0.600000	0.82982	.	ATRX	-	-		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489	Intron	76814318	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	76814318	C	T	76814318	5	4	4	1	0	0	0	0	0	0	1	0	1209	927	32	1	1180	1	ATRX	23	76814318	Splice_Site	SNP	C	TCGA-C5-A0TN-01A-21D-A14W-08	49047794	76814318	78456242	43	340										
TAF7L	54457	genome.wustl.edu	37	chrX	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	8	0.036267869443106	2.15384615384615	5.83333333333333	1.05	0.672768878718535	0.845855293358322	4	tacttcaacaactgcatggcGcccatcagctgaagagaagt	9	11	2	2	rs145455495		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C|TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398																																					Ovarian(104;431 1530 3210 15406 18594)												0								G	CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	148	146	147		154,412	3.8	0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging	52/377,138/463	100538563	1,10562	2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.412C>T	X.37:g.100538563G>A	ENSP00000361998:p.Arg138Cys		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.R138C	ENST00000372907.3	37	c.412	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916048	0.33815	2.61E-4	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38560	3.65;1.13;1.13;3.65	5.66	3.85	0.44370	TAFII55 protein, conserved region (1);	0.780170	0.11273	N	0.581216	T	0.68384	0.2995	M	0.90595	3.13	0.53005	D	0.999963	D;P	0.89917	1.0;0.647	D;B	0.79784	0.993;0.111	T	0.63373	-0.6652	10	0.62326	D	0.03	-1.6297	8.3642	0.32376	0.08:0.0:0.7662:0.1538	.	138;52	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	138;52;52;52	ENSP00000361998:R138C;ENSP00000361996:R52C;ENSP00000320283:R52C;ENSP00000349235:R52C	ENSP00000320283:R52C	R	-	1	0	TAF7L	100425219	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.850000	0.62889	0.519000	0.28406	0.594000	0.82650	CGC	TAF7L	-	pfam_TAFII55_prot_cons_reg		0.398	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	G			100538563	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.910	A	A	100538563	G	A	100538563	3	1	4	1	0	0	0	0	1	0	0	0	15563	1087	38	2	1016	2	TAF7L	23	100538563	Missense_Mutation	SNP	G	TCGA-C5-A0TN-01A-21D-A14W-08	23724245	100538563	54731997	44	341										
PANK4	55229	genome.wustl.edu	37	chr1	2447098	2447100	+	In_Frame_Del	DEL	AGG	AGG	-													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gcacgtaggagggcgggtccAggaggagcggcaggtcaacc							TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:2447098_2447100delAGG	ENST00000378466.3	-	10	1287_1289	c.1275_1277delCCT	c.(1273-1278)ctcctg>ctg	p.425_426LL>L	PANK4_ENST00000435556.3_In_Frame_Del_p.386_387LL>L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	425					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGCGGGTCCAGGAGGAGCGGCA	0.621																																																	0																																										SO:0001651	inframe_deletion	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1275_1277delCCT	1.37:g.2447101_2447103delAGG	ENSP00000367727:p.Leu426del		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	In_Frame_Del	DEL	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.L426in_frame_del	ENST00000378466.3	37	c.1277_1275	CCDS42.1	1																																																																																			PANK4	-	superfamily_DUF89,pirsf_PanK_long		0.621	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	AGG			2447100	-1	no_errors	ENST00000378466	ensembl	human	known	70_37	in_frame_del	DEL	0.995:1.000:1.000	-	-	2447100	AGG	-	2447098	7	5	5	1	0	1	0	1	0	0	0	0	11443	188	7	0	1084	0	PANK4	1	2447098	In_Frame_Del	DEL	AGG	TCGA-C5-A1BE-01B-11D-A13W-08		2447098	246803523	1	342										
PADI2	11240	genome.wustl.edu	37	chr1	17396669	17396669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gatgtcctgctctgtcagtcCcagctccttcttgaggatgt	10	12	3	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:17396669C>T	ENST00000375486.4	-	15	1741	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R	PADI2_ENST00000444885.2_Missense_Mutation_p.G444R|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	560					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCTGTCAGTCCCAGCTCCTTC	0.592																																																	0													174	156	162					1																	17396669		2203	4300	6503	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1678G>A	1.37:g.17396669C>T	ENSP00000364635:p.Gly560Arg		Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.G560R	ENST00000375486.4	37	c.1678	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020978	0.75275	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.58506	0.33;0.33	4.74	3.82	0.43975	Protein-arginine deiminase, C-terminal (1);	0.217966	0.47852	D	0.000205	T	0.80031	0.4549	M	0.91510	3.215	0.53688	D	0.99997	D;D	0.89917	1.0;0.991	D;D	0.91635	0.999;0.948	D	0.85111	0.0963	10	0.87932	D	0	-24.2824	14.0905	0.64987	0.0:0.8481:0.1519:0.0	.	444;560	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	R	560;444	ENSP00000364635:G560R;ENSP00000405894:G444R	ENSP00000364635:G560R	G	-	1	0	PADI2	17269256	1.000000	0.71417	0.924000	0.36721	0.671000	0.39405	7.124000	0.77185	1.333000	0.45449	0.563000	0.77884	GGA	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17396669	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17396669	C	T	17396669	3	4	5	1	0	0	0	0	1	0	0	0	11402	632	22	4	327	4	PADI2	1	17396669	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	14949571	17396669	231853952	2	343										
OTUD3	23252	genome.wustl.edu	37	chr1	20234066	20234069	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	atggccttctctctcaggtcAcaaacaaacagaggcgagaa							TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:20234066_20234069delACAA	ENST00000375120.3	+	8	1025_1028	c.1024_1027delACAA	c.(1024-1029)acaaacfs	p.TN342fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	342					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCAGGTCACAAACAAACAGAG	0.564																																																	0																																										SO:0001589	frameshift_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.1024_1027delACAA	1.37:g.20234070_20234073delACAA	ENSP00000364261:p.Thr342fs		O75047	Frame_Shift_Del	DEL	pfam_OTU,pfscan_OTU	p.K344fs	ENST00000375120.3	37	c.1024_1027	CCDS41279.1	1																																																																																			OTUD3	-	NULL		0.564	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	ACAA			20234069	1	no_errors	ENST00000375120	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:0.976:1.000	-	-	20234069	ACAA	-	20234066	7	5	5	1	0	1	0	1	0	0	0	0	11337	159	6	0	1054	0	OTUD3	1	20234066	Frame_Shift_Del	DEL	ACAA	TCGA-C5-A1BE-01B-11D-A13W-08	2837397	20234066	229016555	3	344										
PTPRF	5792	genome.wustl.edu	37	chr1	44054441	44054441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tttctccatccctcccagcaGccaggaggtgatgccaggcg	11	15	1	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:44054441G>A	ENST00000359947.4	+	8	1059	c.719G>A	c.(718-720)aGc>aAc	p.S240N	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Missense_Mutation_p.S240N|PTPRF_ENST00000372413.3_Missense_Mutation_p.S240N|PTPRF_ENST00000438120.1_Missense_Mutation_p.S240N	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	240	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCCAGCAGCCAGGAGGTG	0.657																																																	0													59	51	54					1																	44054441		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.719G>A	1.37:g.44054441G>A	ENSP00000353030:p.Ser240Asn		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.S240N	ENST00000359947.4	37	c.719	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	G	7.968	0.748380	0.15710	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.33	1.34	0.21922	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182194	0.26915	N	0.021850	T	0.10852	0.0265	N	0.05534	-0.03	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28713	-1.0035	10	0.02654	T	1	.	6.7794	0.23638	0.5514:0.0:0.4486:0.0	.	240;240	P10586-2;P10586	.;PTPRF_HUMAN	N	240	ENSP00000353030:S240N;ENSP00000398822:S240N;ENSP00000361491:S240N;ENSP00000361490:S240N	ENSP00000353030:S240N	S	+	2	0	PTPRF	43827028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.435000	0.26365	0.655000	0.94253	AGC	PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.657	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44054441	1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44054441	G	A	44054441	3	1	5	1	0	0	0	0	1	0	0	0	12831	971	34	4	741	4	PTPRF	1	44054441	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	23820375	44054441	205196180	4	345										
KIF2C	11004	genome.wustl.edu	37	chr1	45228219	45228219	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tctttttggccctctcagttAtccaaggaagaggaggaact	10	9	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:45228219A>T	ENST00000372224.4	+	19	1973	c.1860A>T	c.(1858-1860)ttA>ttT	p.L620F	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.L507F|KIF2C_ENST00000372217.1_Missense_Mutation_p.L566F|KIF2C_ENST00000372218.4_Missense_Mutation_p.L579F|RP11-269F19.2_ENST00000440985.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	620					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CCTCTCAGTTATCCAAGGAAG	0.522																																																	0													95	87	90					1																	45228219		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1860A>T	1.37:g.45228219A>T	ENSP00000361298:p.Leu620Phe		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L620F	ENST00000372224.4	37	c.1860	CCDS512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.390|8.390	0.839519|0.839519	0.16891|0.16891	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217|ENST00000423289	T;T;T;T|.	0.76448|.	-1.01;-0.82;-1.0;-1.02|.	6.17|6.17	-2.42|-2.42	0.06542|0.06542	.|.	0.630411|.	0.15739|.	N|.	0.247006|.	T|T	0.13030|0.13030	0.0316|0.0316	N|N	0.08118|0.08118	0|0	0.29139|0.29139	N|N	0.879102|0.879102	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.003;0.003;0.001|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.08381|.	T|.	0.77|.	.|.	1.6815|1.6815	0.02832|0.02832	0.2722:0.3805:0.166:0.1813|0.2722:0.3805:0.166:0.1813	.|.	579;566;620|.	B7Z6Q6;Q99661-2;Q99661|.	.;.;KIF2C_HUMAN|.	F|F	620;579;507;566|85	ENSP00000361298:L620F;ENSP00000361292:L579F;ENSP00000361296:L507F;ENSP00000361291:L566F|.	ENSP00000361291:L566F|.	L|Y	+|+	3|2	2|0	KIF2C|KIF2C	45000806|45000806	0.916000|0.916000	0.31088|0.31088	0.987000|0.987000	0.45799|0.45799	0.701000|0.701000	0.40568|0.40568	-0.064000|-0.064000	0.11636|0.11636	-0.105000|-0.105000	0.12132|0.12132	-0.213000|-0.213000	0.12676|0.12676	TTA|TAT	KIF2C	-	NULL		0.522	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	A	NM_006845		45228219	1	no_errors	ENST00000372224	ensembl	human	known	70_37	missense	SNP	0.896	T	T	45228219	A	T	45228219	3	4	5	1	0	0	0	0	1	0	0	0	8319	446	16	5	1934	5	KIF2C	1	45228219	Missense_Mutation	SNP	A	TCGA-C5-A1BE-01B-11D-A13W-08	1173778	45228219	204022402	5	346										
SGIP1	84251	genome.wustl.edu	37	chr1	67139031	67139031	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	caccactagaatcagcttttGatgaacagaagacagaaggt	9	8	1	6			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:67139031G>C	ENST00000371037.4	+	12	705	c.628G>C	c.(628-630)Gat>Cat	p.D210H	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.D178H|SGIP1_ENST00000237247.6_Missense_Mutation_p.D214H|SGIP1_ENST00000371035.3_Missense_Mutation_p.D167H|SGIP1_ENST00000371036.3_Missense_Mutation_p.D177H|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	210	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCAGCTTTTGATGAACAGAA	0.358																																																	0													152	157	156					1																	67139031		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.628G>C	1.37:g.67139031G>C	ENSP00000360076:p.Asp210His		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.D214H	ENST00000371037.4	37	c.640	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.579011	0.65878	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04;4.04	5.73	5.73	0.89815	.	0.145674	0.64402	D	0.000009	T	0.01592	0.0051	N	0.19112	0.55	0.25188	N	0.990159	B	0.32693	0.38	B	0.38106	0.265	T	0.47898	-0.9081	10	0.41790	T	0.15	-18.9854	12.8121	0.57645	0.0788:0.0:0.9211:0.0	.	210	Q9BQI5	SGIP1_HUMAN	H	214;178;202;167;213;213;177;210	ENSP00000237247:D214H;ENSP00000360078:D178H;ENSP00000410439:D202H;ENSP00000360074:D167H;ENSP00000360075:D177H;ENSP00000360076:D210H	ENSP00000237247:D214H	D	+	1	0	SGIP1	66911619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.505000	0.60421	2.718000	0.92993	0.650000	0.86243	GAT	SGIP1	-	NULL		0.358	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67139031	1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67139031	G	C	67139031	3	2	5	1	0	0	0	0	1	0	0	0	14236	1290	45	1	674	1	SGIP1	1	67139031	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	21910812	67139031	182111590	6	347										
DEPDC1	55635	genome.wustl.edu	37	chr1	68954150	68954152	+	In_Frame_Del	DEL	CTT	CTT	-													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tacttgttttggatttatgaCttcttctagggatggcacac							TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:68954150_68954152delCTT	ENST00000456315.2	-	5	740_742	c.626_628delAAG	c.(625-630)gaagtc>gtc	p.E209del	DEPDC1_ENST00000370966.5_In_Frame_Del_p.E209del	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	209					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GGATTTATGACTTCTTCTAGGGA	0.305																																																	0																																										SO:0001651	inframe_deletion	55635			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.626_628delAAG	1.37:g.68954153_68954155delCTT	ENSP00000412292:p.Glu209del		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	In_Frame_Del	DEL	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.E209in_frame_del	ENST00000456315.2	37	c.628_626	CCDS44159.1	1																																																																																			DEPDC1	-	NULL		0.305	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	CTT	NM_017779		68954152	-1	no_errors	ENST00000456315	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	68954152	CTT	-	68954150	7	5	5	1	0	1	0	1	0	0	0	0	4449	565	20	0	1839	0	DEPDC1	1	68954150	In_Frame_Del	DEL	CTT	TCGA-C5-A1BE-01B-11D-A13W-08	1815119	68954150	180296471	7	348										
NEGR1	257194	genome.wustl.edu	37	chr1	72400957	72400957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aataatacttgaccggttcaGccaggcaccctttgaagctc	8	12	1	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:72400957G>A	ENST00000357731.5	-	2	453	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	NEGR1_ENST00000434200.1_Silent_p.L70L|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	72	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GACCGGTTCAGCCAGGCACCC	0.378																																																	0													84	84	84					1																	72400957		2203	4300	6503	SO:0001819	synonymous_variant	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.214C>T	1.37:g.72400957G>A			Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L72	ENST00000357731.5	37	c.214	CCDS661.1	1																																																																																			NEGR1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	G	NM_173808		72400957	-1	no_errors	ENST00000357731	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72400957	G	A	72400957	2	1	5	1	0	0	0	0	0	0	0	1	10341	962	34	4		4	NEGR1	1	72400957	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	3446807	72400957	176849664	8	349										
LRRC8B	23507	genome.wustl.edu	37	chr1	90048796	90048796	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gctttcgtcctcagggtgttCagctgacatagattccggca	11	11	2	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:90048796C>T	ENST00000330947.2	+	5	947	c.587C>T	c.(586-588)tCa>tTa	p.S196L	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S196L|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S196L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	196					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCAGGGTGTTCAGCTGACATA	0.532																																																	0													53	58	56					1																	90048796		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.587C>T	1.37:g.90048796C>T	ENSP00000332674:p.Ser196Leu		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S196L	ENST00000330947.2	37	c.587	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130276	0.37630	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.0	5.0	0.66597	.	0.213907	0.33534	N	0.004819	T	0.18257	0.0438	L	0.50333	1.59	0.42441	D	0.992711	B	0.02656	0.0	B	0.04013	0.001	T	0.03695	-1.1012	9	.	.	.	.	13.0329	0.58854	0.0:0.9217:0.0:0.0783	.	196	Q6P9F7	LRC8B_HUMAN	L	196	ENSP00000332674:S196L;ENSP00000350933:S196L;ENSP00000400704:S196L	.	S	+	2	0	LRRC8B	89821384	0.064000	0.20934	0.940000	0.37924	0.932000	0.56968	1.389000	0.34453	2.465000	0.83290	0.655000	0.94253	TCA	LRRC8B	-	NULL		0.532	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	C	NM_015350		90048796	1	no_errors	ENST00000330947	ensembl	human	known	70_37	missense	SNP	0.977	T	T	90048796	C	T	90048796	3	4	5	1	0	0	0	0	1	0	0	0	9045	838	29	1	589	1	LRRC8B	1	90048796	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	17647839	90048796	159201825	9	350										
LRRC8B	23507	genome.wustl.edu	37	chr1	90049129	90049129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gcgctaccagtgtgtctattCcttggcagaaatctttaagg	10	9	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:90049129C>G	ENST00000330947.2	+	5	1280	c.920C>G	c.(919-921)tCc>tGc	p.S307C	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S307C|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S307C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	307					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGTGTCTATTCCTTGGCAGAA	0.408																																																	0													155	158	157					1																	90049129		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.920C>G	1.37:g.90049129C>G	ENSP00000332674:p.Ser307Cys		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S307C	ENST00000330947.2	37	c.920	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541634	0.65085	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.44881	0.91;0.91;0.91	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.44973	0.1319	L	0.44542	1.39	0.58432	D	0.999992	D	0.69078	0.997	P	0.56042	0.79	T	0.42882	-0.9425	10	0.66056	D	0.02	.	19.3136	0.94202	0.0:1.0:0.0:0.0	.	307	Q6P9F7	LRC8B_HUMAN	C	307	ENSP00000332674:S307C;ENSP00000350933:S307C;ENSP00000400704:S307C	ENSP00000332674:S307C	S	+	2	0	LRRC8B	89821717	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.722000	0.84778	2.629000	0.89072	0.655000	0.94253	TCC	LRRC8B	-	NULL		0.408	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	C	NM_015350		90049129	1	no_errors	ENST00000330947	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90049129	C	G	90049129	3	3	5	1	0	0	0	0	1	0	0	0	9045	855	30	1	922	1	LRRC8B	1	90049129	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	333	90049129	159201492	10	351										
AMY2A	279	genome.wustl.edu	37	chr1	104160109	104160109	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	cattgggttctgctgggctcAgtattccccaaatacacaac	8	12	2	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:104160109A>T	ENST00000414303.2	+	1	111	c.47A>T	c.(46-48)cAg>cTg	p.Q16L		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	16					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TGCTGGGCTCAGTATTCCCCA	0.403																																																	0													97	82	87					1																	104160109		2200	4257	6457	SO:0001583	missense	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.47A>T	1.37:g.104160109A>T	ENSP00000397582:p.Gln16Leu		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.Q16L	ENST00000414303.2	37	c.47	CCDS783.1	1	.	.	.	.	.	.	.	.	.	.	a	14.70	2.612356	0.46631	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.91717	3.235	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.54965	0.765;0.703	T	0.78984	-0.1988	9	0.87932	D	0	.	11.6147	0.51083	1.0:0.0:0.0:0.0	.	16;16	B9EJG1;P04746	.;AMYP_HUMAN	L	16	.	ENSP00000377509:Q16L	Q	+	2	0	AMY2A	103961632	1.000000	0.71417	0.990000	0.47175	0.192000	0.23643	8.443000	0.90320	1.455000	0.47813	0.374000	0.22700	CAG	AMY2A	-	superfamily_Glycoside_hydrolase_SF		0.403	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	A	NM_000699		104160109	1	no_errors	ENST00000414303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104160109	A	T	104160109	3	4	5	1	0	0	0	0	1	0	0	0	594	188	7	5	49	5	AMY2A	1	104160109	Missense_Mutation	SNP	A	TCGA-C5-A1BE-01B-11D-A13W-08	14110980	104160109	145090512	11	352										
SETDB1	9869	genome.wustl.edu	37	chr1	150935585	150935585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tatcctctggctctgaagggGatgactttgaggacaagaag	13	7	2	4			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:150935585G>T	ENST00000271640.5	+	19	3617	c.3427G>T	c.(3427-3429)Gat>Tat	p.D1143Y	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'Flank|SETDB1_ENST00000368969.4_Missense_Mutation_p.D1143Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1143	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTGAAGGGGATGACTTTGA	0.478																																																	0													81	71	75					1																	150935585		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3427G>T	1.37:g.150935585G>T	ENSP00000271640:p.Asp1143Tyr		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.D1143Y	ENST00000271640.5	37	c.3427	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293345	0.80914	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.88201	-2.35;-2.35;0.84	5.55	5.55	0.83447	SET domain (3);	0.151410	0.64402	D	0.000013	D	0.85256	0.5655	N	0.14661	0.345	0.80722	D	1	D;P;P	0.53885	0.963;0.785;0.911	P;B;P	0.55222	0.771;0.26;0.58	D	0.87775	0.2608	10	0.56958	D	0.05	.	19.4962	0.95073	0.0:0.0:1.0:0.0	.	1143;1143;1143	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Y	1143	ENSP00000271640:D1143Y;ENSP00000357965:D1143Y;ENSP00000432348:D1143Y	ENSP00000271640:D1143Y	D	+	1	0	SETDB1	149202209	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.530000	0.73816	2.634000	0.89283	0.561000	0.74099	GAT	SETDB1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.478	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150935585	1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150935585	G	T	150935585	3	4	5	1	0	0	0	0	1	0	0	0	14168	1174	41	3	3497	3	SETDB1	1	150935585	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	46775476	150935585	98315036	12	353										
ATP1A4	480	genome.wustl.edu	37	chr1	160156142	160156142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aaatcagaaaactcctcatcCgtcagcacccggatggtgag	9	12	3	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:160156142C>T	ENST00000368081.4	+	21	3517	c.3046C>T	c.(3046-3048)Cgt>Tgt	p.R1016C	ATP1A4_ENST00000470705.1_Missense_Mutation_p.R152C	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1016				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.R1016S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTCCTCATCCGTCAGCACCC	0.567																																																	1	Substitution - Missense(1)	lung(1)											174	178	177					1																	160156142		2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3046C>T	1.37:g.160156142C>T	ENSP00000357060:p.Arg1016Cys		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R1016C	ENST00000368081.4	37	c.3046	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.802513	0.50315	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.91180	-2.8;-2.8	4.95	4.03	0.46877	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	H	0.96365	3.81	0.58432	D	0.999998	P	0.37141	0.584	B	0.32289	0.143	D	0.91191	0.4984	10	0.72032	D	0.01	.	11.522	0.50558	0.0:0.9124:0.0:0.0876	.	1016	Q13733	AT1A4_HUMAN	C	1016;152	ENSP00000357060:R1016C;ENSP00000433094:R152C	ENSP00000357060:R1016C	R	+	1	0	ATP1A4	158422766	0.997000	0.39634	0.041000	0.18516	0.262000	0.26303	2.943000	0.49026	1.315000	0.45114	0.444000	0.29173	CGT	ATP1A4	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.567	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	C	NM_144699		160156142	1	no_errors	ENST00000368081	ensembl	human	known	70_37	missense	SNP	0.989	T	T	160156142	C	T	160156142	3	4	5	1	0	0	0	0	1	0	0	0	1132	652	23	2	3128	2	ATP1A4	1	160156142	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	9220557	160156142	89094479	13	354										
C1orf112	55732	genome.wustl.edu	37	chr1	169798416	169798416	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ccctgcaggatatctctactCaaagccgttttctacagttt	6	12	3	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:169798416C>T	ENST00000286031.6	+	13	1840	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.L380L|C1orf112_ENST00000413811.2_Missense_Mutation_p.S308L	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	380								p.L380L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATCTCTACTCAAAGCCGTTT	0.368																																																	1	Substitution - coding silent(1)	lung(1)											121	118	119					1																	169798416		2203	4300	6503	SO:0001819	synonymous_variant	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1140C>T	1.37:g.169798416C>T			A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.S308L	ENST00000286031.6	37	c.923	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885867	0.51908	.	.	ENSG00000000460	ENST00000413811	T	0.44881	0.91	5.78	1.21	0.21127	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	7	.	.	.	-6.3509	5.8291	0.18570	0.0:0.4973:0.2791:0.2236	.	308	B4E0A9	.	L	308	ENSP00000389257:S308L	.	S	+	2	0	C1orf112	168065040	0.984000	0.35163	0.998000	0.56505	0.984000	0.73092	0.351000	0.20096	0.346000	0.23899	0.563000	0.77884	TCA	C1orf112	-	NULL		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169798416	1	no_errors	ENST00000413811	ensembl	human	known	70_37	missense	SNP	0.950	T	T	169798416	C	T	169798416	2	4	5	1	0	0	0	0	0	0	0	1	1990	813	29	1		1	C1orf112	1	169798416	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	9642274	169798416	79452205	14	355										
HMCN1	83872	genome.wustl.edu	37	chr1	185878636	185878636	+	Frame_Shift_Del	DEL	T	T	-													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	atgattgaaattcgcaatccTttaggtgagatatatcaaac							TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:185878636delT	ENST00000271588.4	+	5	1018	c.789delT	c.(787-789)cctfs	p.P263fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.P263fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	263					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCGCAATCCTTTAGGTGAGA	0.358																																																	0													92	86	88					1																	185878636		2203	4300	6503	SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.789delT	1.37:g.185878636delT	ENSP00000271588:p.Pro263fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L264fs	ENST00000271588.4	37	c.789	CCDS30956.1	1																																																																																			HMCN1	-	NULL		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	T	NM_031935		185878636	1	no_errors	ENST00000271588	ensembl	human	known	70_37	frame_shift_del	DEL	0.968	-	-	185878636	T	-	185878636	7	5	5	1	0	1	0	1	0	0	0	0	7240	1596	56	0	807	0	HMCN1	1	185878636	Frame_Shift_Del	DEL	T	TCGA-C5-A1BE-01B-11D-A13W-08	16080220	185878636	63371985	15	356										
USH2A	7399	genome.wustl.edu	37	chr1	215802256	215802256	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ggctgacgctgcggtgaagaGaaccctgggagtaggttagg	18	7	0	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr1:215802256G>A	ENST00000307340.3	-	71	15805	c.15419C>T	c.(15418-15420)tCt>tTt	p.S5140F	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S5164F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5140					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGGTGAAGAGAACCCTGGGA	0.557										HNSCC(13;0.011)																																							0													121	119	120					1																	215802256		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15419C>T	1.37:g.215802256G>A	ENSP00000305941:p.Ser5140Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S5164F	ENST00000307340.3	37	c.15491	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150293	0.37923	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.69175	-0.38;-0.38	5.67	3.75	0.43078	.	0.000000	0.38492	U	0.001666	T	0.73401	0.3582	M	0.71581	2.175	0.19300	N	0.999977	P	0.50710	0.938	P	0.49708	0.62	T	0.69339	-0.5171	10	0.87932	D	0	.	16.1084	0.81241	0.0:0.2532:0.7467:0.0	.	5140	O75445	USH2A_HUMAN	F	5140;5164	ENSP00000305941:S5140F;ENSP00000355910:S5164F	ENSP00000305941:S5140F	S	-	2	0	USH2A	213868879	1.000000	0.71417	0.012000	0.15200	0.088000	0.18126	5.121000	0.64691	0.704000	0.31869	0.591000	0.81541	TCT	USH2A	-	NULL		0.557	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215802256	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.105	A	A	215802256	G	A	215802256	3	1	5	1	0	0	0	0	1	0	0	0	17067	942	33	1	197	1	USH2A	1	215802256	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	29923620	215802256	33448365	16	357										
GCG	2641	genome.wustl.edu	37	chr2	163002166	163002166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gcatgtctctcaaattcatcGtgacgtttggcaatgttatt	8	8	3	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr2:163002166G>A	ENST00000418842.2	-	4	530	c.276C>T	c.(274-276)caC>caT	p.H92H	GCG_ENST00000375497.3_Silent_p.H92H	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	92		Cleavage; by PCSK1.			adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CAAATTCATCGTGACGTTTGG	0.408																																																	0													220	216	218					2																	163002166		1893	4119	6012	SO:0001819	synonymous_variant	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.276C>T	2.37:g.163002166G>A			A6NN65|Q53TP6	Silent	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.H92	ENST00000418842.2	37	c.276	CCDS46439.1	2																																																																																			GCG	-	NULL		0.408	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	G	NM_002054		163002166	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	silent	SNP	0.995	A	A	163002166	G	A	163002166	2	1	5	1	0	0	0	0	0	0	0	1	6309	1136	40	2		2	GCG	2	163002166	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08		163002166	80197207	17	358										
DYNC1LI1	51143	genome.wustl.edu	37	chr3	32587353	32587353	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	acactcaccatccctgtcttCatcatgcacatttaagtaca	3	14	4	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:32587353C>T	ENST00000273130.4	-	3	428	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	109					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TCCCTGTCTTCATCATGCACA	0.338																																																	0													191	188	189					3																	32587353		2203	4300	6503	SO:0001583	missense	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.325G>A	3.37:g.32587353C>T	ENSP00000273130:p.Glu109Lys		A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.E109K	ENST00000273130.4	37	c.325	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.326060	0.95708	.	.	ENSG00000144635	ENST00000273130;ENST00000413350;ENST00000424991	T;T;T	0.27557	1.66;1.66;2.1	5.47	5.47	0.80525	.	0.043072	0.85682	D	0.000000	T	0.42359	0.1199	M	0.67517	2.055	0.80722	D	1	B	0.29212	0.237	B	0.36092	0.217	T	0.39742	-0.9599	10	0.87932	D	0	-24.1345	19.6979	0.96034	0.0:1.0:0.0:0.0	.	109	Q9Y6G9	DC1L1_HUMAN	K	109;58;150	ENSP00000273130:E109K;ENSP00000390507:E58K;ENSP00000409019:E150K	ENSP00000273130:E109K	E	-	1	0	DYNC1LI1	32562357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.728000	0.93425	0.591000	0.81541	GAA	DYNC1LI1	-	pfam_Dynein_light_int_chain		0.338	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	C	NM_016141		32587353	-1	no_errors	ENST00000273130	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32587353	C	T	32587353	3	4	5	1	0	0	0	0	1	0	0	0	4854	835	29	1	1290	1	DYNC1LI1	3	32587353	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		32587353	165435077	18	359										
MAGI1	9223	genome.wustl.edu	37	chr3	66023959	66023960	+	Frame_Shift_Del	DEL	TC	TC	-													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aaccctgctagtccagtggtTcttcttctggatcactttgg							TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:66023959_66023960delTC	ENST00000497477.2	-	1	23_24	c.24_25delGA	c.(22-27)aagaacfs	p.N9fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.N9fs|MAGI1_ENST00000402939.2_Frame_Shift_Del_p.N9fs|MAGI1_ENST00000330909.8_Frame_Shift_Del_p.N9fs			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	9					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCCAGTGGTTCTTCTTCTGGA	0.604																																																	0																																										SO:0001589	frameshift_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.24_25delGA	3.37:g.66023959_66023960delTC	ENSP00000424369:p.Asn9fs		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.N9fs	ENST00000497477.2	37	c.25_24		3																																																																																			MAGI1	-	superfamily_PDZ		0.604	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	TC	NM_004742		66023960	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	66023960	TC	-	66023959	7	5	5	1	0	1	0	1	0	0	0	0	9213	1783	62	0	4689	0	MAGI1	3	66023959	Frame_Shift_Del	DEL	TC	TCGA-C5-A1BE-01B-11D-A13W-08	33436606	66023959	131998471	19	360										
PIK3CA	5290	genome.wustl.edu	37	chr3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tcaaacaggagaagaaggatGaaacacaaaaggtgtgtgac	12	5	1	4			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89	78	82					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178938934	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178938934	G	A	178938934	3	1	5	1	0	0	0	0	1	0	0	0	11937	1291	45	1	2226	1	PIK3CA	3	178938934	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	112914975	178938934	19083496	20	361										
MAP3K13	9175	genome.wustl.edu	37	chr3	185191432	185191432	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	cctctcttggaaaacgcccaGagttctgagaaaacggaaga	10	10	2	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr3:185191432G>C	ENST00000265026.3	+	11	2647	c.2313G>C	c.(2311-2313)caG>caC	p.Q771H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.Q627H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.Q627H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.Q564H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.Q771H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACGCCCAGAGTTCTGAGA	0.527																																																	0													98	106	103					3																	185191432		2203	4300	6503	SO:0001583	missense	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2313G>C	3.37:g.185191432G>C	ENSP00000265026:p.Gln771His			Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,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	p.Q771H	ENST00000265026.3	37	c.2313	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380554	0.24944	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.8	-4.85	0.03142	.	0.788260	0.12061	N	0.503191	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.30707	-0.9969	10	0.44086	T	0.13	.	4.8828	0.13688	0.1455:0.2885:0.4694:0.0966	.	627;564;771	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	564;771;627;627;771	ENSP00000411483:Q564H;ENSP00000399910:Q771H;ENSP00000409325:Q627H;ENSP00000439257:Q627H;ENSP00000265026:Q771H	ENSP00000265026:Q771H	Q	+	3	2	MAP3K13	186674126	0.000000	0.05858	0.001000	0.08648	0.589000	0.36550	-0.320000	0.08028	-0.788000	0.04504	0.655000	0.94253	CAG	MAP3K13	-	pirsf_MAP3K12_MAP3K13		0.527	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	G	NM_004721		185191432	1	no_errors	ENST00000265026	ensembl	human	known	70_37	missense	SNP	0.000	C	C	185191432	G	C	185191432	3	2	5	1	0	0	0	0	1	0	0	0	9270	933	33	1	2351	1	MAP3K13	3	185191432	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	6252498	185191432	12830998	21	362										
NR3C2	4306	genome.wustl.edu	37	chr4	149356645	149356645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tcatccataaaggaaaaataCgagccatccataaatggaaa	6	8	1	0	rs72645627		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr4:149356645C>T	ENST00000358102.3	-	2	1730	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	NR3C2_ENST00000512865.1_Silent_p.S456S|NR3C2_ENST00000355292.3_Silent_p.S456S|NR3C2_ENST00000511528.1_Silent_p.S456S|NR3C2_ENST00000344721.4_Silent_p.S456S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	456	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGAAAAATACGAGCCATCCA	0.418													C|||	1	0.000199681	0	0	5008	,	,		20388	0		0	False		,,,				2504	0.001				Melanoma(27;428 957 40335 51025 51111)												0													65	63	64					4																	149356645		2203	4300	6503	SO:0001819	synonymous_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1368G>A	4.37:g.149356645C>T			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S456	ENST00000358102.3	37	c.1368	CCDS3772.1	4																																																																																			NR3C2	-	NULL		0.418	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	C			149356645	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	silent	SNP	0.004	T	T	149356645	C	T	149356645	2	4	5	1	0	0	0	0	0	0	0	1	10655	523	19	2		2	NR3C2	4	149356645	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		149356645	41797631	22	363										
CDKN2AIP	55602	genome.wustl.edu	37	chr4	184367413	184367413	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gagagtgggaactcagctcgGagctctggcatctccagtca	13	11	4	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr4:184367413G>C	ENST00000504169.1	+	3	783	c.576G>C	c.(574-576)cgG>cgC	p.R192R	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACTCAGCTCGGAGCTCTGGCA	0.507																																																	0													92	90	91					4																	184367413		2203	4300	6503	SO:0001819	synonymous_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.576G>C	4.37:g.184367413G>C			Q8TBM5|Q9NYH0	Silent	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.R192	ENST00000504169.1	37	c.576	CCDS34110.1	4																																																																																			CDKN2AIP	-	NULL		0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	G	NM_017632		184367413	1	no_errors	ENST00000504169	ensembl	human	known	70_37	silent	SNP	0.316	C	C	184367413	G	C	184367413	2	2	5	1	0	0	0	0	0	0	0	1	3167	1161	41	1		1	CDKN2AIP	4	184367413	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	35010768	184367413	6786863	23	364										
AQPEP	206338	genome.wustl.edu	37	chr5	115351368	115351368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	catctccattcacttctaatGaaacaaatataattgaggtt	4	8	3	2	rs199760968		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr5:115351368G>A	ENST00000357872.4	+	18	2786	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		888						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CACTTCTAATGAAACAAATAT	0.353																																																	0													80	81	81					5																	115351368		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.2662G>A	5.37:g.115351368G>A	ENSP00000350541:p.Glu888Lys		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E888K	ENST00000357872.4	37	c.2662	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265971	0.59540	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06849	3.25	5.85	4.95	0.65309	.	0.153195	0.29178	N	0.012905	T	0.17534	0.0421	M	0.63428	1.95	0.54753	D	0.999986	D	0.53312	0.959	P	0.52343	0.696	T	0.00051	-1.2195	10	0.51188	T	0.08	.	12.4621	0.55736	0.0:0.0:0.8341:0.1659	.	888	Q6Q4G3	AMPQ_HUMAN	K	888;877	ENSP00000350541:E888K	ENSP00000350541:E888K	E	+	1	0	AC010282.1	115379267	0.996000	0.38824	0.895000	0.35142	0.163000	0.22366	1.643000	0.37217	2.767000	0.95098	0.563000	0.77884	GAA	AQPEP	-	NULL		0.353	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	G			115351368	1	no_errors	ENST00000357872	ensembl	human	known	70_37	missense	SNP	0.632	A	A	115351368	G	A	115351368	3	1	5	1	0	0	0	0	1	0	0	0	834	1291	45	1	2732	1	AQPEP	5	115351368	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08		115351368	65563892	24	365			1	5		2	2	12	N	G_A	2.949234e-05
AQPEP	206338	genome.wustl.edu	37	chr5	115351379	115351379	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	acttctaatgaaacaaatatAattgaggttgtggcttcatc	7	6	2	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr5:115351379A>C	ENST00000357872.4	+	18	2797	c.2673A>C	c.(2671-2673)atA>atC	p.I891I	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		891						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAACAAATATAATTGAGGTTG	0.368																																																	0													77	78	77					5																	115351379		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2673A>C	5.37:g.115351379A>C			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.I891	ENST00000357872.4	37	c.2673	CCDS4124.1	5																																																																																			AQPEP	-	NULL		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	A			115351379	1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	0.005	C	C	115351379	A	C	115351379	2	2	5	1	0	0	0	0	0	0	0	1	834	352	13	5		5	AQPEP	5	115351379	Silent	SNP	A	TCGA-C5-A1BE-01B-11D-A13W-08	11	115351379	65563881	25	366			1	5		2	2	12	N	G_A	2.949234e-05
SLC17A1	6568	genome.wustl.edu	37	chr6	25826752	25826752	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ccatgtggatctgtgctattCaccatgactaccattgtgag	9	10	2	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:25826752C>T	ENST00000244527.4	-	3	259	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SLC17A1_ENST00000468082.1_Silent_p.V48V|SLC17A1_ENST00000427328.1_Silent_p.V48V|SLC17A1_ENST00000476801.1_Silent_p.V48V	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	48					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTGTGCTATTCACCATGACTA	0.413																																																	0													206	181	190					6																	25826752		2203	4300	6503	SO:0001819	synonymous_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.144G>A	6.37:g.25826752C>T			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt	p.V48	ENST00000244527.4	37	c.144	CCDS4565.1	6																																																																																			SLC17A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt		0.413	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A1	HGNC	protein_coding	OTTHUMT00000043647.2	C			25826752	-1	no_errors	ENST00000244527	ensembl	human	known	70_37	silent	SNP	1.000	T	T	25826752	C	T	25826752	2	4	5	1	0	0	0	0	0	0	0	1	14446	813	29	1		1	SLC17A1	6	25826752	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		25826752	145288315	26	367										
HLA-DPB1	3115	genome.wustl.edu	37	chr6	33048688	33048689	+	Frame_Shift_Ins	INS	-	-	A													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	acacaactacgagctgggcgINSggcccatgaccctgcagcgc					rs141530233|rs534577141	byFrequency	TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:33048688_33048689insA	ENST00000418931.2	+	2	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPB1_ENST00000535465.1_Frame_Shift_Ins_p.G114fs|HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708																																																	0										2094,2108		551,992,558						-3.9	0		dbSNP_134	20	2192,6010		354,1484,2263	no	frameshift	HLA-DPB1	NM_002121.5		905,2476,2821	A1A1,A1R,RR		26.7252,49.8334,34.5534				4286,8118				SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	Exception_encountered	6.37:g.33048688_33048689insA	ENSP00000408146:p.Gly114fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Ins	INS	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.G114fs	ENST00000418931.2	37	c.340_341	CCDS4765.1	6																																																																																			HLA-DPB1	-	superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.708	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	NM_002121		33048689	1	no_errors	ENST00000418931	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A	A	33048689	-	A	33048688	7	5	5	1	0	1	1	0	0	0	0	0	7223	1116	39	0	346	0	HLA-DPB1	6	33048688	Frame_Shift_Ins	INS	-	TCGA-C5-A1BE-01B-11D-A13W-08	7221936	33048688	138066379	27	368										
FGD2	221472	genome.wustl.edu	37	chr6	36979601	36979601	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ttccattctcagttcttcctCccagagctgcagcggcgcct	8	16	2	1	rs181839126		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:36979601C>T	ENST00000274963.8	+	4	669	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	166	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGTTCTTCCTCCCAGAGCTGC	0.617																																																	0													117	87	97					6																	36979601		2203	4300	6503	SO:0001819	synonymous_variant	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.498C>T	6.37:g.36979601C>T			Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L166	ENST00000274963.8	37	c.498	CCDS4829.1	6																																																																																			FGD2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	C	NM_173558		36979601	1	no_errors	ENST00000274963	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36979601	C	T	36979601	2	4	5	1	0	0	0	0	0	0	0	1	5851	842	30	1		1	FGD2	6	36979601	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	3930913	36979601	134135466	28	369										
CLIC5	53405	genome.wustl.edu	37	chr6	45909283	45909283	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tggtggaagggagtcactcaCcagcattgttctgctgcttg	13	9	3	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:45909283C>T	ENST00000185206.6	-	4	1036		c.e4+1		CLIC5_ENST00000544153.1_Splice_Site|CLIC5_ENST00000339561.6_Splice_Site	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5						auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GAGTCACTCACCAGCATTGTT	0.488																																																	0													196	185	189					6																	45909283		2203	4300	6503	SO:0001630	splice_region_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.883+1G>A	6.37:g.45909283C>T			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Splice_Site	SNP	-	e4+1	ENST00000185206.6	37	c.883+1	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762227	0.89932	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7617	0.88466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIC5	46017261	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.544000	0.82117	2.489000	0.83994	0.563000	0.77884	.	CLIC5	-	-		0.488	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	C		Intron	45909283	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	45909283	C	T	45909283	5	4	5	1	0	0	0	0	0	0	1	0	3534	521	18	4	360	4	CLIC5	6	45909283	Splice_Site	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	8929682	45909283	125205784	29	370										
NR2E1	7101	genome.wustl.edu	37	chr6	108497844	108497844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ctgcgccggccttcttcaccGcggtcacgcagctggagccg	13	17	3	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr6:108497844G>A	ENST00000368986.4	+	4	1105	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.A170T	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	133					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CTTCTTCACCGCGGTCACGCA	0.706																																																	0													14	15	15					6																	108497844		2199	4292	6491	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.397G>A	6.37:g.108497844G>A	ENSP00000357982:p.Ala133Thr		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A133T	ENST00000368986.4	37	c.397	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242733	0.39598	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.49720	0.77;0.77	5.76	4.9	0.64082	Nuclear hormone receptor, ligand-binding (1);	0.209027	0.50627	N	0.000114	T	0.12092	0.0294	N	0.12746	0.255	0.44330	D	0.997216	B	0.06786	0.001	B	0.01281	0.0	T	0.11665	-1.0578	10	0.17832	T	0.49	.	9.2007	0.37256	0.2172:0.0:0.7828:0.0	.	133	Q9Y466	NR2E1_HUMAN	T	133;170	ENSP00000357982:A133T;ENSP00000357979:A170T	ENSP00000357979:A170T	A	+	1	0	NR2E1	108604537	0.997000	0.39634	0.722000	0.30670	0.444000	0.32077	2.930000	0.48924	1.442000	0.47568	0.655000	0.94253	GCG	NR2E1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.706	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	G			108497844	1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	0.949	A	A	108497844	G	A	108497844	3	1	5	1	0	0	0	0	1	0	0	0	10649	1087	38	2	411	2	NR2E1	6	108497844	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	62588561	108497844	62617223	30	371										
STK31	56164	genome.wustl.edu	37	chr7	23768836	23768836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aactttggggactacacattCcttctgatcaagaagttacc	7	10	2	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:23768836C>T	ENST00000355870.3	+	6	570	c.451C>T	c.(451-453)Cct>Tct	p.P151S	STK31_ENST00000428484.1_Missense_Mutation_p.P128S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.P128S|STK31_ENST00000433467.2_Missense_Mutation_p.P151S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	151						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTACACATTCCTTCTGATCA	0.328																																																	0													82	85	84					7																	23768836		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.451C>T	7.37:g.23768836C>T	ENSP00000348132:p.Pro151Ser		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.P151S	ENST00000355870.3	37	c.451	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	c	17.76	3.468331	0.63625	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T;T;T	0.62639	0.01;1.45;1.83;0.01;0.01;0.01	5.97	5.97	0.96955	.	0.132416	0.52532	D	0.000065	T	0.48277	0.1491	N	0.19112	0.55	0.38969	D	0.9587	P;P	0.42692	0.787;0.787	B;B	0.37091	0.241;0.241	T	0.53422	-0.8441	10	0.40728	T	0.16	-13.6089	17.3377	0.87286	0.0:1.0:0.0:0.0	.	151;151	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	151;107;128;151;128;128	ENSP00000348132:P151S;ENSP00000414087:P107S;ENSP00000389340:P128S;ENSP00000411852:P151S;ENSP00000346660:P128S;ENSP00000406146:P128S	ENSP00000346660:P128S	P	+	1	0	STK31	23735361	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.833000	0.55790	2.823000	0.97156	0.591000	0.81541	CCT	STK31	-	NULL		0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	C	NM_031414		23768836	1	no_errors	ENST00000355870	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23768836	C	T	23768836	3	4	5	1	0	0	0	0	1	0	0	0	15326	855	30	1	473	1	STK31	7	23768836	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		23768836	135369827	31	372										
ZNF138	7697	genome.wustl.edu	37	chr7	64292514	64292514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ccaacccttactaaacatcaGataatttatactggagagga	6	9	1	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:64292514G>C	ENST00000359735.3	+	4	1070	c.723G>C	c.(721-723)caG>caC	p.Q241H	ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.Q241H|ZNF138_ENST00000437743.1_Missense_Mutation_p.Q266H|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.Q298H|ZNF138_ENST00000440155.2_Missense_Mutation_p.Q272H	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTAAACATCAGATAATTTATA	0.353																																																	0													38	41	40					7																	64292514		2189	4294	6483	SO:0001583	missense	7697			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"Zinc fingers, C2H2-type", "-"	12922	protein-coding gene	gene with protein product		604080	"zinc finger protein 138 (clone pHZ-32)"				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.723G>C	7.37:g.64292514G>C	ENSP00000352770:p.Gln241His		B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q241H	ENST00000359735.3	37	c.723		7	.	.	.	.	.	.	.	.	.	.	.	6.237	0.411815	0.11812	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29556	0.0737	M	0.88704	2.975	0.09310	N	1	B;B;B	0.27140	0.169;0.169;0.169	B;B;B	0.37601	0.254;0.254;0.254	T	0.35450	-0.9788	9	0.54805	T	0.06	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	272;266;241	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	H	298;241;272;266;241	ENSP00000303533:Q298H;ENSP00000352770:Q241H;ENSP00000407262:Q272H;ENSP00000399528:Q266H;ENSP00000380325:Q241H	ENSP00000303533:Q298H	Q	+	3	2	ZNF138	63929949	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.574000	0.23714	0.192000	0.20272	0.195000	0.17529	CAG	ZNF138	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF138-201	KNOWN	basic	protein_coding	ZNF138	HGNC	protein_coding		G	NM_006524		64292514	1	no_errors	ENST00000359735	ensembl	human	known	70_37	missense	SNP	0.266	C	C	64292514	G	C	64292514	3	2	5	1	0	0	0	0	1	0	0	0	17757	933	33	1	1049	1	ZNF138	7	64292514	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	40523678	64292514	94846149	32	373										
CADPS2	93664	genome.wustl.edu	37	chr7	122255280	122255280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ctgtctgaagtttttctcctTccacttccattgtacagtaa	5	11	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:122255280T>C	ENST00000449022.2	-	6	1197	c.1178A>G	c.(1177-1179)gAa>gGa	p.E393G	CADPS2_ENST00000412584.2_Missense_Mutation_p.E393G|CADPS2_ENST00000313070.7_Missense_Mutation_p.E393G|CADPS2_ENST00000334010.7_Missense_Mutation_p.E393G	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	393	C2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTTTCTCCTTCCACTTCCAT	0.373																																																	0													74	68	70					7																	122255280		1869	4100	5969	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1178A>G	7.37:g.122255280T>C	ENSP00000398481:p.Glu393Gly		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E393G	ENST00000449022.2	37	c.1178	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943758	0.92593	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.68952	2.095	0.58432	D	0.999993	D;D;D	0.76494	0.969;0.999;0.999	P;D;D	0.78314	0.709;0.986;0.991	T	0.80238	-0.1465	10	0.87932	D	0	-21.1829	15.7642	0.78114	0.0:0.0:0.0:1.0	.	393;393;393	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	G	393;393;393;360;393;393	ENSP00000325581:E393G;ENSP00000333940:E393G;ENSP00000400401:E393G;ENSP00000398481:E393G	ENSP00000325581:E393G	E	-	2	0	CADPS2	122042516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.136000	0.66102	0.533000	0.62120	GAA	CADPS2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	T	NM_017954		122255280	-1	no_errors	ENST00000449022	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122255280	T	C	122255280	3	2	5	1	0	0	0	0	1	0	0	0	2576	1783	62	5	2856	5	CADPS2	7	122255280	Missense_Mutation	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08	57962766	122255280	36883383	33	374										
MGAM	8972	genome.wustl.edu	37	chr7	141708495	141708496	+	Frame_Shift_Ins	INS	-	-	TG													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aattgcatccctgaccagccINSgccaacaaaggtttgagtta					rs377148306		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr7:141708495_141708496insTG	ENST00000549489.2	+	3	412_413	c.317_318insTG	c.(316-321)ccgccafs	p.P107fs	MGAM_ENST00000475668.2_Frame_Shift_Ins_p.P107fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	107	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGACCAGCCGCCAACAAAGG	0.371																																																	0																																										SO:0001589	frameshift_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	Exception_encountered	7.37:g.141708495_141708496insTG	ENSP00000447378:p.Pro107fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Ins	INS	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.P107fs	ENST00000549489.2	37	c.317_318	CCDS47727.1	7																																																																																			MGAM	-	pfam_P_trefoil,smart_P_trefoil		0.371	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-			141708496	1	no_errors	ENST00000549489	ensembl	human	known	70_37	frame_shift_ins	INS	0.076:0.114	TG	TG	141708496	-	TG	141708495	7	5	5	1	0	1	1	0	0	0	0	0	9564	652	23	0	323	0	MGAM	7	141708495	Frame_Shift_Ins	INS	-	TCGA-C5-A1BE-01B-11D-A13W-08	19453215	141708495	17430168	34	375										
ANK1	286	genome.wustl.edu	37	chr8	41563760	41563760	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tggaggggagtgagtccgctCtgcaaagaaaaagacgttca	14	7	2	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr8:41563760C>A	ENST00000347528.4	-	18	2082		c.e18-1		ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000289734.7_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGTCCGCTCTGCAAAGAAA	0.522																																																	0													65	50	55					8																	41563760		2203	4300	6503	SO:0001630	splice_region_variant	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1999-1G>T	8.37:g.41563760C>A			A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	-	e18-1	ENST00000347528.4	37	c.1999-1	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769103	0.69992	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.594	0.91224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41682917	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.742000	0.85008	2.392000	0.81423	0.561000	0.74099	.	ANK1	-	-		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	C	NM_020475	Intron	41563760	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	41563760	C	A	41563760	5	1	5	1	0	0	0	0	0	0	1	0	620	927	32	3	4101	3	ANK1	8	41563760	Splice_Site	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		41563760	104800262	35	376										
XKR4	114786	genome.wustl.edu	37	chr8	56436429	56436429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tgtgcttgtgaggacccagcCgctgccttcactttgccccc	10	16	1	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr8:56436429C>T	ENST00000327381.6	+	3	1696	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	532						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGGACCCAGCCGCTGCCTTCA	0.527																																																	0													69	65	66					8																	56436429		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1596C>T	8.37:g.56436429C>T			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.A532	ENST00000327381.6	37	c.1596	CCDS34893.1	8																																																																																			XKR4	-	NULL		0.527	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56436429	1	no_errors	ENST00000327381	ensembl	human	known	70_37	silent	SNP	0.000	T	T	56436429	C	T	56436429	2	4	5	1	0	0	0	0	0	0	0	1	17464	639	23	2		2	XKR4	8	56436429	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	14872669	56436429	89927593	36	377										
COL22A1	169044	genome.wustl.edu	37	chr8	139790622	139790622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tccgacacgtccaggaggtcCggggagtccaggtggtcctt	15	12	0	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr8:139790622C>T	ENST00000303045.6	-	15	2178	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G578R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	578	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGAGGTCCGGGGAGTCCA	0.547										HNSCC(7;0.00092)																																							0													44	47	46					8																	139790622		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1732G>A	8.37:g.139790622C>T	ENSP00000303153:p.Gly578Arg		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G578R	ENST00000303045.6	37	c.1732	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	7.101	0.574139	0.13623	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.99637	-5.77;-5.53;-6.29	4.97	4.97	0.65823	.	0.273316	0.25439	N	0.030669	D	0.99782	0.9909	H	0.98559	4.265	0.24783	N	0.992804	D	0.76494	0.999	D	0.71656	0.974	D	0.97357	0.9967	10	0.87932	D	0	.	13.9394	0.64046	0.0:1.0:0.0:0.0	.	578	Q8NFW1	COMA1_HUMAN	R	578;578;28	ENSP00000303153:G578R;ENSP00000387655:G578R;ENSP00000428244:G28R	ENSP00000303153:G578R	G	-	1	0	COL22A1	139859804	0.961000	0.32948	0.197000	0.23402	0.125000	0.20455	3.260000	0.51523	2.756000	0.94617	0.655000	0.94253	GGA	COL22A1	-	NULL		0.547	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139790622	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.218	T	T	139790622	C	T	139790622	3	4	5	1	0	0	0	0	1	0	0	0	3686	661	23	2	3352	2	COL22A1	8	139790622	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	83354193	139790622	6573400	37	378										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18776905	18776905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	cgcctacctgctccccaagaCggcggtggtgctgcgctgcc	13	17	0	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr9:18776905C>T	ENST00000380548.4	+	19	3017	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	893	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCCCAAGACGGCGGTGGTG	0.677																																																	0													19	24	22					9																	18776905		2038	4169	6207	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2678C>T	9.37:g.18776905C>T	ENSP00000369921:p.Thr893Met		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.T893M	ENST00000380548.4	37	c.2678	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428690	0.43122	.	.	ENSG00000178031	ENST00000380548	T	0.13196	2.61	5.48	4.58	0.56647	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	100.034000	0.05563	U	0.569659	T	0.37945	0.1022	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.00069	-1.2137	10	0.66056	D	0.02	.	14.2286	0.65875	0.0:0.9283:0.0:0.0717	.	893	Q8N6G6	ATL1_HUMAN	M	893	ENSP00000369921:T893M	ENSP00000369921:T893M	T	+	2	0	ADAMTSL1	18766905	1.000000	0.71417	0.919000	0.36401	0.035000	0.12851	5.764000	0.68826	1.313000	0.45069	-0.251000	0.11542	ACG	ADAMTSL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18776905	1	no_errors	ENST00000380548	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	18776905	C	T	18776905	3	4	5	1	0	0	0	0	1	0	0	0	274	536	19	2	2756	2	ADAMTSL1	9	18776905	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		18776905	122436526	38	379										
APBA1	320	genome.wustl.edu	37	chr9	72071269	72071269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	agttggagcgaggcatccgcCggcgggccatcagcacaacg	15	13	1	0	rs370688256		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr9:72071269C>T	ENST00000265381.4	-	8	1904	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	561	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AGGCATCCGCCGGCGGGCCAT	0.577																																																	0								C	GLN/ARG	0,4406		0,0,2203	241	229	233		1682	6.1	1	9		233	1,8599	1.2+/-3.3	0,1,4299	no	missense	APBA1	NM_001163.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	561/838	72071269	1,13005	2203	4300	6503	SO:0001583	missense	320			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1682G>A	9.37:g.72071269C>T	ENSP00000265381:p.Arg561Gln		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.R561Q	ENST00000265381.4	37	c.1682	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.210077	0.97380	0.0	1.16E-4	ENSG00000107282	ENST00000265381	T	0.21361	2.01	6.06	6.06	0.98353	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.048860	0.85682	D	0.000000	T	0.53514	0.1801	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.54853	-0.8231	10	0.87932	D	0	-15.0519	20.613	0.99472	0.0:1.0:0.0:0.0	.	561	Q02410	APBA1_HUMAN	Q	561	ENSP00000265381:R561Q	ENSP00000265381:R561Q	R	-	2	0	APBA1	71261089	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.686000	0.84128	2.876000	0.98609	0.655000	0.94253	CGG	APBA1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.577	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	C	NM_001163		72071269	-1	no_errors	ENST00000265381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72071269	C	T	72071269	3	4	5	1	0	0	0	0	1	0	0	0	756	652	23	2	855	2	APBA1	9	72071269	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	53294364	72071269	69142162	39	380										
OR1J1	347168	genome.wustl.edu	37	chr9	125239426	125239427	+	Frame_Shift_Ins	INS	-	-	AAAT													0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tgttgctggatgggggaagaINSaaatagagaccaataattgt							TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr9:125239426_125239427insAAAT	ENST00000259357.2	-	1	808_809	c.779_780insATTT	c.(778-780)tttfs	p.-259fs	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ATGGGGGAAGAAAATAGAGACC	0.436																																																	0																																										SO:0001589	frameshift_variant	347168			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.776_779dupATTT	9.37:g.125239427_125239430dupAAAT	ENSP00000259357:p.Tyr259fs		A3KFL8|Q6IF10|Q96R88	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F260fs	ENST00000259357.2	37	c.780_779	CCDS35120.1	9																																																																																			OR1J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.436	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	-			125239427	-1	no_errors	ENST00000259357	ensembl	human	known	70_37	frame_shift_ins	INS	0.007:0.015	AAAT	AAAT	125239427	-	AAAT	125239426	7	5	5	1	0	1	1	0	0	0	0	0	10983	243	9	0	191	0	OR1J1	9	125239426	Frame_Shift_Ins	INS	-	TCGA-C5-A1BE-01B-11D-A13W-08	53168157	125239426	15974005	40	381										
ANK3	288	genome.wustl.edu	37	chr10	61868601	61868601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aacttaccctaaaaattgtgCccctgcaggacccatttcta	5	13	1	0	rs368218301		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr10:61868601C>T	ENST00000280772.2	-	27	3351	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T|ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1054	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAAATTGTGCCCCTGCAGGA	0.453													C|||	1	0.000199681	0	0	5008	,	,		18456	0		0	False		,,,				2504	0.001																0													61	65	64					10																	61868601		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3160G>A	10.37:g.61868601C>T	ENSP00000280772:p.Ala1054Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.A1054T	ENST00000280772.2	37	c.3160	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768023	0.90020	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	6.04	6.04	0.98038	ZU5 (3);	0.000000	0.41938	D	0.000798	T	0.58192	0.2105	L	0.39020	1.185	0.80722	D	1	P;D;D;D;D;B;D	0.89917	0.712;0.999;1.0;1.0;1.0;0.286;0.997	P;D;D;D;D;B;D	0.91635	0.592;0.999;0.999;0.996;0.983;0.194;0.957	T	0.51631	-0.8681	10	0.42905	T	0.14	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1055;188;587;1048;1054;289;188	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	T	1054;1048;188;188;1055;1034;289;689;689;187;587;179	ENSP00000280772:A1054T;ENSP00000362933:A1048T;ENSP00000347436:A188T;ENSP00000425236:A1055T;ENSP00000362921:A179T	ENSP00000280772:A1054T	A	-	1	0	ANK3	61538607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCA	ANK3	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61868601	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61868601	C	T	61868601	3	4	5	1	0	0	0	0	1	0	0	0	622	739	26	4	10354	4	ANK3	10	61868601	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		61868601	73666146	41	382										
C10orf79	80217	genome.wustl.edu	37	chr10	105956648	105956648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tcttgcttacacaagcacaaTcctccagccaccaaacacaa	3	16	1	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr10:105956648T>C	ENST00000278064.2	-	10	1374	c.1049A>G	c.(1048-1050)gAt>gGt	p.D350G	WDR96_ENST00000369720.1_Missense_Mutation_p.D350G|WDR96_ENST00000428666.1_Missense_Mutation_p.D420G|WDR96_ENST00000357060.3_Missense_Mutation_p.D419G																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAAGCACAATCCTCCAGCCA	0.313																																																	0													63	62	63					10																	105956648		2203	4299	6502	SO:0001583	missense	80217																														ENST00000278064.2:c.1049A>G	10.37:g.105956648T>C	ENSP00000278064:p.Asp350Gly			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.D419G	ENST00000278064.2	37	c.1256		10	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165677	0.38217	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.29655	1.56;1.56;1.56;1.57	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.173971	0.27686	N	0.018279	T	0.46308	0.1386	M	0.76002	2.32	0.37048	D	0.897447	D;B	0.63046	0.992;0.207	P;B	0.56563	0.801;0.156	T	0.52320	-0.8591	10	0.25106	T	0.35	.	11.6888	0.51503	0.0:0.0:0.0:1.0	.	420;419	B4DHB6;Q8NDM7	.;WDR96_HUMAN	G	419;420;350;350	ENSP00000349568:D419G;ENSP00000400289:D420G;ENSP00000278064:D350G;ENSP00000358734:D350G	ENSP00000278064:D350G	D	-	2	0	WDR96	105946638	0.729000	0.28090	0.383000	0.26132	0.400000	0.30750	3.705000	0.54823	2.068000	0.61886	0.528000	0.53228	GAT	WDR96	-	superfamily_WD40_repeat_dom		0.313	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1	T			105956648	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	0.873	C	C	105956648	T	C	105956648	3	2	5	1	0	0	0	0	1	0	0	0	1622	1435	50	5	3857	5	C10orf79	10	105956648	Missense_Mutation	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08	44088047	105956648	29578099	42	383										
PPP2R2D	55844	genome.wustl.edu	37	chr10	133769261	133769261	+	3'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	cgcggagggatgtgaccctgGaggcctcgagagagagcagc	18	10	0	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr10:133769261G>A	ENST00000470416.1	+	0	646				PPP2R2D_ENST00000422256.2_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TGTGACCCTGGAGGCCTCGAG	0.562																																																	0													50	58	55					10																	133769261		2132	4255	6387	SO:0001624	3_prime_UTR_variant	55844			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*643G>A	10.37:g.133769261G>A			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.E355K	ENST00000470416.1	37	c.1063		10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978142	0.74360	.	.	ENSG00000175470	ENST00000455566	T	0.32988	1.43	3.9	3.9	0.45041	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	T	0.62086	-0.6928	9	0.72032	D	0.01	3.0E-4	16.493	0.84207	0.0:0.0:1.0:0.0	.	386	Q66LE6	2ABD_HUMAN	K	355	ENSP00000399970:E355K	ENSP00000399970:E355K	E	+	1	0	PPP2R2D	133619251	1.000000	0.71417	0.967000	0.41034	0.020000	0.10135	8.321000	0.89997	2.189000	0.69895	0.655000	0.94253	GAG	PPP2R2D	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.562	PPP2R2D-005	KNOWN	basic	processed_transcript	PPP2R2D	HGNC	protein_coding	OTTHUMT00000051038.1	G	NM_018461		133769261	1	no_errors	ENST00000455566	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133769261	G	A	133769261	1	1	5	0	1	0	0	0	0	0	0	0	12414	1175	41	1		1	PPP2R2D	10	133769261	3'UTR	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	27812613	133769261	1765486	43	384										
TAS2R43	259289	genome.wustl.edu	37	chr12	11244372	11244372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ttcaaattcttttgtccgcaCaatctcattcatgtttatca	3	10	5	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:11244372C>G	ENST00000531678.1	-	1	540	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	153					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTCCGCACAATCTCATTC	0.363																																																	0													72	61	65					12																	11244372		1895	3703	5598	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.457G>C	12.37:g.11244372C>G	ENSP00000431719:p.Val153Leu		P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V153L	ENST00000531678.1	37	c.457	CCDS53749.1	12	.	.	.	.	.	.	.	.	.	.	-	2.832	-0.242453	0.05906	.	.	ENSG00000255374	ENST00000531678	T	0.37235	1.21	2.01	-4.03	0.04021	.	.	.	.	.	T	0.23572	0.0570	L	0.42632	1.34	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.26538	-1.0100	9	0.41790	T	0.15	.	2.6712	0.05067	0.3807:0.1601:0.0:0.4592	.	153	P59537	T2R43_HUMAN	L	153	ENSP00000431719:V153L	ENSP00000431719:V153L	V	-	1	0	TAS2R43	11135639	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.608000	0.00887	-1.086000	0.03084	-1.098000	0.02139	GTG	TAS2R43	-	pfam_TAS2_rcpt		0.363	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	C	NM_176884		11244372	-1	no_errors	ENST00000531678	ensembl	human	known	70_37	missense	SNP	0.000	G	G	11244372	C	G	11244372	3	3	5	1	0	0	0	0	1	0	0	0	15611	478	17	4	476	4	TAS2R43	12	11244372	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		11244372	122607523	44	385										
LRP1	4035	genome.wustl.edu	37	chr12	57578215	57578215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tcagcatcagctggcccaacGgcatctcagtggactaccag	10	14	3	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:57578215G>A	ENST00000243077.3	+	38	6632	c.6166G>A	c.(6166-6168)Ggc>Agc	p.G2056S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2056					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGCCCAACGGCATCTCAGT	0.597																																																	0													127	101	110					12																	57578215		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6166G>A	12.37:g.57578215G>A	ENSP00000243077:p.Gly2056Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2056S	ENST00000243077.3	37	c.6166	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.279191	0.95489	.	.	ENSG00000123384	ENST00000243077	D	0.97529	-4.42	5.3	5.3	0.74995	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.98232	0.9415	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98501	1.0614	10	0.46703	T	0.11	.	17.7312	0.88378	0.0:0.0:1.0:0.0	.	2056	Q07954	LRP1_HUMAN	S	2056	ENSP00000243077:G2056S	ENSP00000243077:G2056S	G	+	1	0	LRP1	55864482	1.000000	0.71417	0.975000	0.42487	0.756000	0.42949	8.003000	0.88520	2.480000	0.83734	0.561000	0.74099	GGC	LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57578215	1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57578215	G	A	57578215	3	1	5	1	0	0	0	0	1	0	0	0	8974	1116	39	2	6316	2	LRP1	12	57578215	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	46333843	57578215	76273680	45	386										
TSPAN8	7103	genome.wustl.edu	37	chr12	71537959	71537959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	agtcattgcttactcgtaccCatattgctaatgctaggatc	7	10	1	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:71537959C>A	ENST00000393330.2	-	6	647	c.95G>T	c.(94-96)tGg>tTg	p.W32L	TSPAN8_ENST00000247829.3_Missense_Mutation_p.W32L|TSPAN8_ENST00000546561.1_Missense_Mutation_p.W32L|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	32					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TACTCGTACCCATATTGCTAA	0.328																																																	0													135	122	126					12																	71537959		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.95G>T	12.37:g.71537959C>A	ENSP00000377003:p.Trp32Leu		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.W32L	ENST00000393330.2	37	c.95	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622765	0.46840	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.81078	-1.45;-1.45;-1.45	5.37	3.49	0.39957	.	0.327837	0.34986	N	0.003523	D	0.85331	0.5672	M	0.76938	2.355	0.80722	D	1	D	0.54601	0.967	P	0.56127	0.792	D	0.86178	0.1604	10	0.66056	D	0.02	.	9.8082	0.40805	0.0:0.7731:0.1452:0.0817	.	32	P19075	TSN8_HUMAN	L	32	ENSP00000377003:W32L;ENSP00000247829:W32L;ENSP00000447160:W32L	ENSP00000247829:W32L	W	-	2	0	TSPAN8	69824226	0.993000	0.37304	0.894000	0.35097	0.135000	0.20990	1.465000	0.35299	1.388000	0.46506	0.655000	0.94253	TGG	TSPAN8	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.328	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	C	NM_004616		71537959	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.972	A	A	71537959	C	A	71537959	3	1	5	1	0	0	0	0	1	0	0	0	16684	595	21	4	646	4	TSPAN8	12	71537959	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	13959744	71537959	62313936	46	387										
ACACB	32	genome.wustl.edu	37	chr12	109623483	109623483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tttcttttgaaaccccctcaAaccctcccctcgcccgaggc	5	19	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:109623483A>G	ENST00000338432.7	+	12	2037	c.1918A>G	c.(1918-1920)Aac>Gac	p.N640D	ACACB_ENST00000377854.5_Missense_Mutation_p.N640D|ACACB_ENST00000377848.3_Missense_Mutation_p.N640D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	640	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AACCCCCTCAAACCCTCCCCT	0.582																																																	0													60	55	57					12																	109623483		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1918A>G	12.37:g.109623483A>G	ENSP00000341044:p.Asn640Asp		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.N640D	ENST00000338432.7	37	c.1918	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	3.957	-0.011029	0.07727	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.95412	-3.7;-3.7;-3.69	5.33	1.51	0.23008	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.392655	0.32952	N	0.005444	D	0.85974	0.5822	N	0.04320	-0.23	0.09310	N	1	B	0.26120	0.142	B	0.23150	0.044	T	0.78440	-0.2203	10	0.66056	D	0.02	.	7.5219	0.27633	0.66:0.2692:0.0709:0.0	.	640	O00763	ACACB_HUMAN	D	640	ENSP00000341044:N640D;ENSP00000367079:N640D;ENSP00000367085:N640D	ENSP00000341044:N640D	N	+	1	0	ACACB	108107866	0.151000	0.22747	0.000000	0.03702	0.035000	0.12851	2.964000	0.49192	0.070000	0.16634	0.459000	0.35465	AAC	ACACB	-	pfscan_Biotin_carboxylation_dom		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	A	NM_001093		109623483	1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	0.000	G	G	109623483	A	G	109623483	3	3	5	1	0	0	0	0	1	0	0	0	107	14	1	5	1960	5	ACACB	12	109623483	Missense_Mutation	SNP	A	TCGA-C5-A1BE-01B-11D-A13W-08	38085524	109623483	24228412	47	388										
NOC4L	79050	genome.wustl.edu	37	chr12	132636945	132636945	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ccagcacttcacgctcagctGaccctggcccacctgtgaat	8	17	2	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr12:132636945G>A	ENST00000330579.1	+	15	1591	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	NOC4L_ENST00000538784.1_Silent_p.*132*	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	0					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ACGCTCAGCTGACCCTGGCCC	0.602																																																	0													20	19	19					12																	132636945		2178	4280	6458	SO:0001819	synonymous_variant	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1550G>A	12.37:g.132636945G>A			Q8N2S5|Q96I14	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.*517	ENST00000330579.1	37	c.1550	CCDS9277.1	12																																																																																			NOC4L	-	NULL		0.602	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	G	NM_024078		132636945	1	no_errors	ENST00000330579	ensembl	human	known	70_37	silent	SNP	0.998	A	A	132636945	G	A	132636945	2	1	5	1	0	0	0	0	0	0	0	1	10539	1285	45	1		1	NOC4L	12	132636945	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	23013462	132636945	1214950	48	389										
MLNR	2862	genome.wustl.edu	37	chr13	49796301	49796301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ttaacatcgtcgctctgcaaCttttctatctgagcgcatct	6	12	4	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr13:49796301C>A	ENST00000218721.1	+	2	1027	c.1027C>A	c.(1027-1029)Ctt>Att	p.L343I	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	343					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGCTCTGCAACTTTTCTATCT	0.463																																																	0													199	186	191					13																	49796301		2203	4300	6503	SO:0001583	missense	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1027C>A	13.37:g.49796301C>A	ENSP00000218721:p.Leu343Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L343I	ENST00000218721.1	37	c.1027	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315164	0.81358	.	.	ENSG00000102539	ENST00000218721	T	0.49139	0.79	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.71178	0.3309	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74705	-0.3575	10	0.51188	T	0.08	.	11.5374	0.50645	0.0:0.9173:0.0:0.0827	.	343	O43193	MTLR_HUMAN	I	343	ENSP00000218721:L343I	ENSP00000218721:L343I	L	+	1	0	MLNR	48694302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.954000	0.70298	2.565000	0.86533	0.650000	0.86243	CTT	MLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	C	NM_001507		49796301	1	no_errors	ENST00000218721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49796301	C	A	49796301	3	1	5	1	0	0	0	0	1	0	0	0	9655	565	20	4	1033	4	MLNR	13	49796301	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		49796301	65373577	49	390										
IPO5	3843	genome.wustl.edu	37	chr13	98622062	98622062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aggatcaagttggaaaactaGaagcaacagaaaacacaata	8	6	1	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr13:98622062G>A	ENST00000261574.5	+	3	208	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	967					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGAAAACTAGAAGCAACAGA	0.403																																																	0													105	101	102					13																	98622062		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000261574.5:c.28G>A	13.37:g.98622062G>A	ENSP00000261574:p.Glu10Lys		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.E10K	ENST00000261574.5	37	c.28	CCDS31999.1	13	.	.	.	.	.	.	.	.	.	.	g	15.45	2.836224	0.50951	.	.	ENSG00000065150	ENST00000477600;ENST00000460070;ENST00000481455;ENST00000261574;ENST00000463157;ENST00000493281;ENST00000489058;ENST00000481689;ENST00000480611;ENST00000485433;ENST00000496368;ENST00000421861	T	0.09817	2.94	5.47	5.47	0.80525	.	1.437790	0.04332	N	0.352557	T	0.17619	0.0423	N	0.08118	0	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.25187	-1.0139	10	0.15066	T	0.55	0.0015	14.7359	0.69414	0.0:0.0:1.0:0.0	.	10	O00410-3	.	K	10;10;10;10;10;10;10;40;10;10;10;10	ENSP00000261574:E10K	ENSP00000261574:E10K	E	+	1	0	IPO5	97420063	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	2.669000	0.46825	2.853000	0.98044	0.645000	0.84053	GAA	IPO5	-	NULL		0.403	IPO5-001	KNOWN	basic|CCDS	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000045533.2	G	NM_002271		98622062	1	no_errors	ENST00000261574	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98622062	G	A	98622062	3	1	5	1	0	0	0	0	1	0	0	0	7816	943	33	1	30	1	IPO5	13	98622062	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	48825761	98622062	16547816	50	391										
LIG4	3981	genome.wustl.edu	37	chr13	108861175	108861175	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tccaaataaacggtgtggcgTcgaaacatactgagaggaga	12	7	0	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr13:108861175T>A	ENST00000356922.4	-	2	2714	c.2442A>T	c.(2440-2442)cgA>cgT	p.R814R	LIG4_ENST00000442234.1_Silent_p.R814R|LIG4_ENST00000405925.1_Silent_p.R814R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	814	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CGGTGTGGCGTCGAAACATAC	0.418								Non-homologous end-joining																																									0													87	82	84					13																	108861175		2203	4300	6503	SO:0001819	synonymous_variant	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2442A>T	13.37:g.108861175T>A			Q8IY66|Q8TEU5	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.R814	ENST00000356922.4	37	c.2442	CCDS9508.1	13																																																																																			LIG4	-	smart_BRCT_dom,pfscan_BRCT_dom		0.418	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	T	NM_002312		108861175	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	silent	SNP	0.888	A	A	108861175	T	A	108861175	2	1	5	1	0	0	0	0	0	0	0	1	8803	1654	58	5		5	LIG4	13	108861175	Silent	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08	10239113	108861175	6308703	51	392										
RNF31	55072	genome.wustl.edu	37	chr14	24619469	24619469	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aggggttggggttgggaactGagggtccccaaggaactgga	19	6	0	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:24619469G>A	ENST00000324103.6	+	7	1329	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RNF31_ENST00000382687.3_Missense_Mutation_p.E186K|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.E186K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	337	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E337Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTTGGGAACTGAGGGTCCCCA	0.602																																																	1	Substitution - Missense(1)	lung(1)											65	72	69					14																	24619469		1995	4180	6175	SO:0001583	missense	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1009G>A	14.37:g.24619469G>A	ENSP00000315112:p.Glu337Lys		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.E337K	ENST00000324103.6	37	c.1009	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	G	6.392	0.440528	0.12104	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44083	0.93;0.93	4.99	4.09	0.47781	.	0.249907	0.37095	N	0.002254	T	0.36936	0.0985	L	0.44542	1.39	0.09310	N	0.999994	B;B;B	0.32717	0.381;0.247;0.361	B;B;B	0.34652	0.069;0.057;0.187	T	0.30001	-0.9993	10	0.46703	T	0.11	1.6785	12.6595	0.56806	0.0:0.1667:0.8333:0.0	.	152;337;186	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	K	337;186	ENSP00000315112:E337K;ENSP00000372134:E186K	ENSP00000315112:E337K	E	+	1	0	RNF31	23689309	0.771000	0.28555	0.044000	0.18714	0.003000	0.03518	2.984000	0.49353	1.306000	0.44926	-0.175000	0.13238	GAG	RNF31	-	NULL		0.602	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	G	NM_017999		24619469	1	no_errors	ENST00000324103	ensembl	human	known	70_37	missense	SNP	0.187	A	A	24619469	G	A	24619469	3	1	5	1	0	0	0	0	1	0	0	0	13517	1291	45	1	1035	1	RNF31	14	24619469	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08		24619469	82730071	52	393										
C14orf104	55172	genome.wustl.edu	37	chr14	50100351	50100351	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gaccacccatggcgcaggctGagcgctggccgcccgtgccc	14	18	0	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:50100351G>T	ENST00000298292.8	-	1	1597	c.1517C>A	c.(1516-1518)tCa>tAa	p.S506*	DNAAF2_ENST00000406043.3_Nonsense_Mutation_p.S506*	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	506					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						GGCGCAGGCTGAGCGCTGGCC	0.622																																																	0													26	25	25					14																	50100351		2203	4300	6503	SO:0001587	stop_gained	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1517C>A	14.37:g.50100351G>T	ENSP00000298292:p.Ser506*		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Nonsense_Mutation	SNP	pfam_PIH	p.S506*	ENST00000298292.8	37	c.1517	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	34	5.328503	0.95733	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	.	.	.	4.64	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3309	0.11062	0.2386:0.349:0.4123:0.0	.	.	.	.	X	506	.	ENSP00000298292:S506X	S	-	2	0	DNAAF2	49170101	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.341000	0.19909	0.129000	0.18514	0.555000	0.69702	TCA	DNAAF2	-	NULL		0.622	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50100351	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	50100351	G	T	50100351	4	4	5	1	0	0	0	0	0	1	0	0	1740	1294	45	3	1008	3	C14orf104	14	50100351	Nonsense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	25480882	50100351	57249189	53	394										
DACT1	51339	genome.wustl.edu	37	chr14	59112964	59112964	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aggcctgccttggatttcaaGagcgagggctcttcccaaag	12	11	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:59112964G>A	ENST00000335867.4	+	4	1647	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K	DACT1_ENST00000395153.3_Silent_p.K504K|DACT1_ENST00000541264.2_Silent_p.K260K|DACT1_ENST00000556859.1_Silent_p.K260K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	541					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGATTTCAAGAGCGAGGGCT	0.627																																																	0													46	54	51					14																	59112964		2203	4300	6503	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1623G>A	14.37:g.59112964G>A			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.K541	ENST00000335867.4	37	c.1623	CCDS9736.1	14																																																																																			DACT1	-	NULL		0.627	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	G	NM_016651		59112964	1	no_errors	ENST00000335867	ensembl	human	known	70_37	silent	SNP	0.992	A	A	59112964	G	A	59112964	2	1	5	1	0	0	0	0	0	0	0	1	4227	933	33	1		1	DACT1	14	59112964	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	9012613	59112964	48236576	54	395										
EIF2S1	1965	genome.wustl.edu	37	chr14	67850056	67850056	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aagtggtcacagatacagatGagactgaacttgcgaggcag	13	7	1	4			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr14:67850056G>A	ENST00000256383.4	+	8	1308	c.847G>A	c.(847-849)Gag>Aag	p.E283K	EIF2S1_ENST00000466499.2_Missense_Mutation_p.E283K	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	283					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AGATACAGATGAGACTGAACT	0.393																																																	0													89	79	82					14																	67850056		2203	4300	6503	SO:0001583	missense	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.847G>A	14.37:g.67850056G>A	ENSP00000256383:p.Glu283Lys			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E283K	ENST00000256383.4	37	c.847	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.025978	0.97216	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.17	6.17	0.99709	Translation initiation factor 2, alpha subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.79926	2.475	0.80722	D	1	P	0.52692	0.955	P	0.59424	0.857	T	0.82845	-0.0256	9	0.87932	D	0	-14.8316	20.8794	0.99867	0.0:0.0:1.0:0.0	.	283	P05198	IF2A_HUMAN	K	283	.	ENSP00000256383:E283K	E	+	1	0	EIF2S1	66919809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	EIF2S1	-	superfamily_TIF2_asu_C		0.393	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	G	NM_004094		67850056	1	no_errors	ENST00000256383	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67850056	G	A	67850056	3	1	5	1	0	0	0	0	1	0	0	0	5019	1291	45	1	873	1	EIF2S1	14	67850056	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	8737092	67850056	39499484	55	396										
CYFIP1	23191	genome.wustl.edu	37	chr15	22990123	22990123	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tcgtgggacctccacactttCaagtcatctgccggcttctc	8	15	4	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:22990123C>T	ENST00000313077.7	+	24	2868	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	CYFIP1_ENST00000435939.2_Nonsense_Mutation_p.Q484*|CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.Q915*	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCCACACTTTCAAGTCATCTG	0.562																																																	0													100	93	96					15																	22990123		2203	4300	6503	SO:0001587	stop_gained	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2743C>T	15.37:g.22990123C>T	ENSP00000324549:p.Gln915*			Nonsense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.Q915*	ENST00000313077.7	37	c.2743	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.719164	0.98450	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	.	.	.	4.8	3.82	0.43975	.	0.346161	0.25628	N	0.029375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7872	10.5438	0.45047	0.5664:0.4336:0.0:0.0	.	.	.	.	X	915;943;484	.	ENSP00000324549:Q915X	Q	+	1	0	CYFIP1	20541564	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	4.586000	0.60984	1.083000	0.41159	0.563000	0.77884	CAA	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.562	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	C	NM_014608		22990123	1	no_errors	ENST00000313077	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	22990123	C	T	22990123	4	4	5	1	0	0	0	0	0	1	0	0	4142	827	29	1	3214	1	CYFIP1	15	22990123	Nonsense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		22990123	79541269	56	397										
COMMD4	54939	genome.wustl.edu	37	chr15	75632155	75632155	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ctggaggtggcagctgccccAgggaccccagcccagcctgt	14	16	0	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:75632155A>C	ENST00000267935.8	+	7	694	c.495A>C	c.(493-495)ccA>ccC	p.P165P	COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Silent_p.P143P|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	165	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCTGCCCCAGGGACCCCAG	0.652																																																	0													38	41	40					15																	75632155		2197	4294	6491	SO:0001819	synonymous_variant	54939			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.495A>C	15.37:g.75632155A>C			B2RBN4|H3BUL2|Q7L637|Q9NX43	Silent	SNP	pfam_HCaRG	p.P165	ENST00000267935.8	37	c.495	CCDS10277.1	15																																																																																			COMMD4	-	pfam_HCaRG		0.652	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD4	HGNC	protein_coding	OTTHUMT00000286414.1	A	NM_017828		75632155	1	no_errors	ENST00000267935	ensembl	human	known	70_37	silent	SNP	0.102	C	C	75632155	A	C	75632155	2	2	5	1	0	0	0	0	0	0	0	1	3723	175	7	5		5	COMMD4	15	75632155	Silent	SNP	A	TCGA-C5-A1BE-01B-11D-A13W-08	52642032	75632155	26899237	57	398										
SEMA4B	10509	genome.wustl.edu	37	chr15	90767093	90767093	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	caggggaactacagaaggctCtgccgtctgtgtcttcacaa	11	11	4	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr15:90767093C>G	ENST00000411539.2	+	9	1327	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	SEMA4B_ENST00000379122.3_Missense_Mutation_p.S351C|SEMA4B_ENST00000332496.6_Missense_Mutation_p.S356C	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	351	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACAGAAGGCTCTGCCGTCTGT	0.572																																																	0													48	51	50					15																	90767093		1933	4115	6048	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1067C>G	15.37:g.90767093C>G	ENSP00000394720:p.Ser356Cys		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S356C	ENST00000411539.2	37	c.1067	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969466	0.74246	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.24723	1.84;1.84;1.84	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79269	-0.1873	10	0.87932	D	0	.	17.5304	0.87813	0.0:1.0:0.0:0.0	.	356;351	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	C	356;351;356	ENSP00000332204:S356C;ENSP00000368417:S351C;ENSP00000394720:S356C	ENSP00000332204:S356C	S	+	2	0	SEMA4B	88568097	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	7.620000	0.83070	2.551000	0.86045	0.591000	0.81541	TCT	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.572	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90767093	1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90767093	C	G	90767093	3	3	5	1	0	0	0	0	1	0	0	0	14062	913	32	1	1101	1	SEMA4B	15	90767093	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	15134938	90767093	11764299	58	399										
DNAH3	55567	genome.wustl.edu	37	chr16	21147833	21147833	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tggtcagatagtaatagtatCtcttccataaacaaaccacc	5	10	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr16:21147833C>T	ENST00000261383.3	-	6	697	c.698G>A	c.(697-699)aGa>aAa	p.R233K	DNAH3_ENST00000415178.1_Splice_Site_p.R233K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	233	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTAATAGTATCTCTTCCATAA	0.458																																																	0													136	130	132					16																	21147833		2201	4300	6501	SO:0001630	splice_region_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.697-1G>A	16.37:g.21147833C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.R233K	ENST00000261383.3	37	c.698	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088426	0.55968	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.30981	1.55;1.51	5.63	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.71206	2.165	0.47341	D	0.99939	D;D	0.89917	0.999;1.0	P;D	0.91635	0.901;0.999	T	0.56577	-0.7956	10	0.45353	T	0.12	.	15.4864	0.75571	0.0:0.8606:0.1394:0.0	.	233;204	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	K	233;233;204	ENSP00000261383:R233K;ENSP00000394245:R233K	ENSP00000261383:R233K	R	-	2	0	DNAH3	21055334	1.000000	0.71417	0.997000	0.53966	0.312000	0.27988	3.811000	0.55620	1.371000	0.46172	-0.176000	0.13171	AGA	DNAH3	-	NULL		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539	Missense_Mutation	21147833	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21147833	C	T	21147833	5	4	5	1	0	0	0	0	0	0	1	0	4613	927	32	1	11879	1	DNAH3	16	21147833	Splice_Site	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		21147833	69206920	59	400										
VWA3A	146177	genome.wustl.edu	37	chr16	22126785	22126785	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gattccctggtggccatcatGagaagctggtaggtcttctt	12	9	3	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr16:22126785G>A	ENST00000389398.5	+	9	903	c.807G>A	c.(805-807)atG>atA	p.M269I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	269						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGGCCATCATGAGAAGCTGGT	0.473																																																	0													34	35	34					16																	22126785		1930	4134	6064	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.807G>A	16.37:g.22126785G>A	ENSP00000374049:p.Met269Ile		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.M269I	ENST00000389398.5	37	c.807	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	2.991	-0.208168	0.06180	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.08102	3.13	5.51	4.36	0.52297	.	0.322831	0.30401	N	0.009712	T	0.06962	0.0177	L	0.38838	1.175	0.49213	D	0.999764	B	0.02656	0.0	B	0.10450	0.005	T	0.27673	-1.0067	10	0.17369	T	0.5	.	10.392	0.44179	0.1677:0.0:0.8323:0.0	.	269	A6NCI4	VWA3A_HUMAN	I	169;269	ENSP00000374049:M269I	ENSP00000308827:M169I	M	+	3	0	VWA3A	22034286	1.000000	0.71417	0.694000	0.30210	0.238000	0.25445	1.375000	0.34295	2.592000	0.87571	0.596000	0.82720	ATG	VWA3A	-	NULL		0.473	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	G			22126785	1	no_errors	ENST00000389398	ensembl	human	known	70_37	missense	SNP	0.414	A	A	22126785	G	A	22126785	3	1	5	1	0	0	0	0	1	0	0	0	17271	1290	45	1	841	1	VWA3A	16	22126785	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	978952	22126785	68227968	60	401										
GPT2	84706	genome.wustl.edu	37	chr16	46943727	46943727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	caggtgaattactacctggaCgaggagaactgctgggcgct	14	9	0	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr16:46943727C>T	ENST00000340124.4	+	6	820	c.708C>T	c.(706-708)gaC>gaT	p.D236D	GPT2_ENST00000440783.2_Silent_p.D136D	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	236					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	ACTACCTGGACGAGGAGAACT	0.552																																																	0													93	86	89					16																	46943727		2203	4300	6503	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.708C>T	16.37:g.46943727C>T			Q8N9E2	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.D236	ENST00000340124.4	37	c.708	CCDS10725.1	16																																																																																			GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.552	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46943727	1	no_errors	ENST00000340124	ensembl	human	known	70_37	silent	SNP	0.999	T	T	46943727	C	T	46943727	2	4	5	1	0	0	0	0	0	0	0	1	6758	535	19	2		2	GPT2	16	46943727	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	24816942	46943727	43411026	61	402										
EFTUD2	9343	genome.wustl.edu	37	chr17	42930947	42930947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gatctggcccccgccccggtGcaggggctcctgggcaacca	14	17	1	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:42930947G>A	ENST00000426333.2	-	24	2701	c.2404C>T	c.(2404-2406)Cac>Tac	p.H802Y	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H767Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H792Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H802Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	802					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCGCCCCGGTGCAGGGGCTCC	0.592																																					Ovarian(10;65 485 10258 29980 30707)												0													41	41	41					17																	42930947		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2404C>T	17.37:g.42930947G>A	ENSP00000392094:p.His802Tyr		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.H802Y	ENST00000426333.2	37	c.2404	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693720	0.30052	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.34859	1.34;1.34	4.68	4.68	0.58851	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.56340	1.77	0.80722	D	1	B;B	0.17038	0.02;0.009	B;B	0.23852	0.049;0.029	T	0.17961	-1.0352	10	0.33940	T	0.23	-20.8358	17.7902	0.88550	0.0:0.0:1.0:0.0	.	792;802	B4DMC0;Q15029	.;U5S1_HUMAN	Y	802;792;767	ENSP00000392094:H802Y;ENSP00000385873:H767Y	ENSP00000262414:H792Y	H	-	1	0	EFTUD2	40286473	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.263000	0.95617	2.426000	0.82243	0.563000	0.77884	CAC	EFTUD2	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV		0.592	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	G	NM_004247		42930947	-1	no_errors	ENST00000426333	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42930947	G	A	42930947	3	1	5	1	0	0	0	0	1	0	0	0	4971	1319	46	4	534	4	EFTUD2	17	42930947	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08		42930947	38264263	62	403										
RSAD1	55316	genome.wustl.edu	37	chr17	48559580	48559580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gacttgatgctggggctgccGgcacagcaggtggggccgtg	19	10	0	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:48559580G>A	ENST00000258955.2	+	4	688	c.603G>A	c.(601-603)ccG>ccA	p.P201P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	201					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGCTGCCGGCACAGCAGG	0.687											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	39	38					17																	48559580		2203	4299	6502	SO:0001819	synonymous_variant	55316			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.603G>A	17.37:g.48559580G>A		955	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.P201	ENST00000258955.2	37	c.603	CCDS11569.1	17																																																																																			RSAD1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel		0.687	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	G	NM_018346		48559580	1	no_errors	ENST00000258955	ensembl	human	known	70_37	silent	SNP	0.005	A	A	48559580	G	A	48559580	2	1	5	1	0	0	0	0	0	0	0	1	13724	1103	39	2		2	RSAD1	17	48559580	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	5628633	48559580	32635630	63	404										
BCAS3	54828	genome.wustl.edu	37	chr17	59155836	59155836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gtctcatggtccgagtgacaCgccacagcctcttttggatt	10	12	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:59155836C>T	ENST00000390652.5	+	22	2349	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M	BCAS3_ENST00000407086.3_Missense_Mutation_p.T758M|BCAS3_ENST00000588874.1_Missense_Mutation_p.T529M|BCAS3_ENST00000589222.1_Missense_Mutation_p.T758M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T773M|BCAS3_ENST00000585744.1_Missense_Mutation_p.T544M|BCAS3_ENST00000408905.3_Missense_Mutation_p.T758M	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCGAGTGACACGCCACAGCCT	0.433																																																	0													125	115	118					17																	59155836		1996	4169	6165	SO:0001583	missense	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2318C>T	17.37:g.59155836C>T	ENSP00000375067:p.Thr773Met			Missense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.T773M	ENST00000390652.5	37	c.2318	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362933	0.61403	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.34072	1.41;1.39;1.38	5.31	5.31	0.75309	.	0.231642	0.43747	D	0.000522	T	0.39358	0.1075	L	0.36672	1.1	0.46849	D	0.999223	D;D;D;P;P	0.57571	0.969;0.969;0.98;0.938;0.923	P;B;P;P;B	0.47251	0.503;0.401;0.503;0.542;0.407	T	0.25606	-1.0127	10	0.59425	D	0.04	.	19.3441	0.94356	0.0:1.0:0.0:0.0	.	758;773;758;773;758	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	M	773;758;758	ENSP00000375067:T773M;ENSP00000385323:T758M;ENSP00000386173:T758M	ENSP00000375067:T773M	T	+	2	0	BCAS3	56510618	0.998000	0.40836	1.000000	0.80357	0.805000	0.45488	3.669000	0.54561	2.658000	0.90341	0.585000	0.79938	ACG	BCAS3	-	NULL		0.433	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	C	NM_017679		59155836	1	no_errors	ENST00000390652	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59155836	C	T	59155836	3	4	5	1	0	0	0	0	1	0	0	0	1353	536	19	2	2400	2	BCAS3	17	59155836	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	10596256	59155836	22039374	64	405										
INTS2	57508	genome.wustl.edu	37	chr17	59945364	59945364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aagcataccgcttagcctgtGttaaaactgttggaaaaaaa	8	7	0	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:59945364G>A	ENST00000444766.3	-	24	3350	c.3275C>T	c.(3274-3276)aCa>aTa	p.T1092I	INTS2_ENST00000251334.6_Missense_Mutation_p.T1084I	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1092					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTAGCCTGTGTTAAAACTGT	0.358																																																	0													29	25	26					17																	59945364		1822	4078	5900	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3275C>T	17.37:g.59945364G>A	ENSP00000414237:p.Thr1092Ile		Q9ULD3	Missense_Mutation	SNP	NULL	p.T1092I	ENST00000444766.3	37	c.3275	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040979	0.75732	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46819	0.86	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.61481	-0.7054	9	.	.	.	-12.1204	18.4557	0.90720	0.0:0.0:1.0:0.0	.	1092	Q9H0H0	INT2_HUMAN	I	1092;1091	ENSP00000414237:T1092I	.	T	-	2	0	INTS2	57300146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.100000	0.76989	2.671000	0.90904	0.585000	0.79938	ACA	INTS2	-	NULL		0.358	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	G	NM_020748		59945364	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59945364	G	A	59945364	3	1	5	1	0	0	0	0	1	0	0	0	7798	1377	48	4	347	4	INTS2	17	59945364	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	789528	59945364	21249846	65	406										
CSH2	1443	genome.wustl.edu	37	chr17	61950693	61950693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aagccaggagcagggacgtcCgggagcctggggagaaaccg	18	10	0	1	rs569109978		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:61950693C>T	ENST00000392886.2	-	2	168	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	CSH2_ENST00000345366.7_Missense_Mutation_p.R6Q|CSH2_ENST00000560142.1_Missense_Mutation_p.R6Q|CSH2_ENST00000336844.5_Missense_Mutation_p.R6Q	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	6						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CAGGGACGTCCGGGAGCCTGG	0.607													C|||	1	0.000199681	0	0	5008	,	,		19602	0		0	False		,,,				2504	0.001																0													12	13	13					17																	61950693		2185	4252	6437	SO:0001583	missense	1443			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.17G>A	17.37:g.61950693C>T	ENSP00000376623:p.Arg6Gln		P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R6Q	ENST00000392886.2	37	c.17	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	c	9.480	1.097920	0.20552	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;D;D	0.91068	-2.78;-2.1;-2.28	4.1	-5.18	0.02840	.	0.628574	0.16367	N	0.217506	T	0.79633	0.4479	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.22080	0.0;0.064;0.0;0.014	B;B;B;B	0.14023	0.0;0.006;0.0;0.01	T	0.63065	-0.6720	10	0.26408	T	0.33	.	10.3773	0.44090	0.0:0.429:0.0:0.571	.	6;6;6;6	P01243;A6NIT4;A8K6C2;B1A4H9	CSH_HUMAN;.;.;.	Q	6	ENSP00000308396:R6Q;ENSP00000338816:R6Q;ENSP00000376623:R6Q	ENSP00000338816:R6Q	R	-	2	0	CSH2	59304425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.696000	0.05104	-1.029000	0.03317	-2.873000	0.00099	CGG	CSH2	-	NULL		0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	HGNC	protein_coding	OTTHUMT00000417657.1	C	NM_020991		61950693	-1	no_errors	ENST00000392886	ensembl	human	known	70_37	missense	SNP	0.000	T	T	61950693	C	T	61950693	3	4	5	1	0	0	0	0	1	0	0	0	3946	652	23	2	700	2	CSH2	17	61950693	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	2005329	61950693	19244517	66	407										
ITGB4	3691	genome.wustl.edu	37	chr17	73738775	73738775	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	cagctgctggtggaggccatCgacgtgcccgcaggcactgc	15	14	0	0	rs373517123		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr17:73738775C>T	ENST00000200181.3	+	25	3082	c.2895C>T	c.(2893-2895)atC>atT	p.I965I	ITGB4_ENST00000450894.3_Silent_p.I965I|ITGB4_ENST00000339591.3_Silent_p.I965I|ITGB4_ENST00000449880.2_Silent_p.I965I|ITGB4_ENST00000579662.1_Silent_p.I965I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	965					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGAGGCCATCGACGTGCCCG	0.642																																																	0								C	,,	2,4404	4.2+/-10.8	0,2,2201	71	54	60		2895,2895,2895	-3.5	0.7	17		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	965/1823,965/1806,965/1753	73738775	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2895C>T	17.37:g.73738775C>T			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.I965	ENST00000200181.3	37	c.2895	CCDS11727.1	17																																																																																			ITGB4	-	pirsf_Integrin_bsu-4		0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	C			73738775	1	no_errors	ENST00000200181	ensembl	human	known	70_37	silent	SNP	0.606	T	T	73738775	C	T	73738775	2	4	5	1	0	0	0	0	0	0	0	1	7917	874	31	1		1	ITGB4	17	73738775	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	11788082	73738775	7456435	67	408										
PTPRM	5797	genome.wustl.edu	37	chr18	8380408	8380408	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	catccgtagttatgctaaatGatgtggatcctgcccaggtg	11	9	0	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr18:8380408G>A	ENST00000332175.8	+	27	4899	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	PTPRM_ENST00000400060.4_Missense_Mutation_p.D1302N|PTPRM_ENST00000400053.4_Missense_Mutation_p.D1226N|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1075N|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1301N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1288	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATGCTAAATGATGTGGATCC	0.463																																																	0													110	99	103					18																	8380408		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3862G>A	18.37:g.8380408G>A	ENSP00000331418:p.Asp1288Asn		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D1302N	ENST00000332175.8	37	c.3904	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.351940	0.95830	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.49	5.49	0.81192	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.11789	0.175	0.80722	D	1	P;P;D	0.76494	0.898;0.951;0.999	P;P;D	0.81914	0.777;0.637;0.995	T	0.16364	-1.0405	10	0.49607	T	0.09	.	19.3775	0.94517	0.0:0.0:1.0:0.0	.	1075;1301;1288	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	1288;1302;1226;1075	ENSP00000331418:D1288N;ENSP00000382933:D1302N;ENSP00000382927:D1226N;ENSP00000387608:D1075N	ENSP00000331418:D1288N	D	+	1	0	PTPRM	8370408	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	9.869000	0.99810	2.588000	0.87417	0.467000	0.42956	GAT	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8380408	1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8380408	G	A	8380408	3	1	5	1	0	0	0	0	1	0	0	0	12836	1290	45	1	4015	1	PTPRM	18	8380408	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08		8380408	69696840	68	409										
SIGLEC11	114132	genome.wustl.edu	37	chr19	50464184	50464184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	actgtaactgggatccttgtTcagggaccctggggagatgc	14	9	1	1	rs200296439		TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr19:50464184T>C	ENST00000447370.2	-	2	175	c.85A>G	c.(85-87)Aac>Gac	p.N29D	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.N29D|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	29					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGATCCTTGTTCAGGGACCCT	0.672																																																	0								T	ASP/ASN,ASP/ASN	2,3974		0,2,1986	4	4	4		85,85	-4.8	0	19		4	1,7693		0,1,3846	no	missense,missense	SIGLEC11	NM_001135163.1,NM_052884.2	23,23	0,3,5832	CC,CT,TT		0.013,0.0503,0.0257	benign,benign	29/603,29/699	50464184	3,11667	1988	3847	5835	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.85A>G	19.37:g.50464184T>C	ENSP00000412361:p.Asn29Asp			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N29D	ENST00000447370.2	37	c.85	CCDS12790.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.733|0.733	-0.779252|-0.779252	0.02929|0.02929	5.03E-4|5.03E-4	1.3E-4|1.3E-4	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.52983|.	0.64|.	2.39|2.39	-4.77|-4.77	0.03219|0.03219	.|.	1.936730|.	0.02547|.	N|.	0.095258|.	T|.	0.13970|.	0.0338|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B|.	0.43662|.	0.814;0.331|.	B;B|.	0.41988|.	0.372;0.059|.	T|.	0.21314|.	-1.0249|.	10|.	0.54805|.	T|.	0.06|.	.|.	6.0612|6.0612	0.19839|0.19839	0.0:0.3888:0.2039:0.4074|0.0:0.3888:0.2039:0.4074	.|.	29;29|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	D|W	29|18	ENSP00000412361:N29D|.	ENSP00000412361:N29D|.	N|X	-|-	1|3	0|0	SIGLEC11|SIGLEC11	55155996|55155996	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.746000|-0.746000	0.04829|0.04829	-2.129000|-2.129000	0.00817|0.00817	-0.488000|-0.488000	0.04728|0.04728	AAC|TGA	SIGLEC11	-	NULL		0.672	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	T	NM_052884		50464184	-1	no_errors	ENST00000447370	ensembl	human	known	70_37	missense	SNP	0.000	C	C	50464184	T	C	50464184	3	2	5	1	0	0	0	0	1	0	0	0	14337	1783	62	5	2051	5	SIGLEC11	19	50464184	Missense_Mutation	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08		50464184	8664799	69	410										
KIF16B	55614	genome.wustl.edu	37	chr20	16486496	16486496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tgcagcatcctgagataaatCagctatgaaaaggaagaaac	9	7	1	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:16486496C>T	ENST00000354981.2	-	9	1028	c.871G>A	c.(871-873)Gat>Aat	p.D291N	KIF16B_ENST00000408042.1_Missense_Mutation_p.D291N|KIF16B_ENST00000355755.3_Missense_Mutation_p.D291N|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	291	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGAGATAAATCAGCTATGAAA	0.358																																																	0													47	44	45					20																	16486496		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.871G>A	20.37:g.16486496C>T	ENSP00000347076:p.Asp291Asn		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D291N	ENST00000354981.2	37	c.871	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396215	0.83011	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.75367	-0.93;-0.93;-0.93	5.74	5.74	0.90152	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.64630	1.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.992;0.999;0.999	D	0.85641	0.1276	10	0.87932	D	0	.	18.4783	0.90800	0.0:1.0:0.0:0.0	.	291;291;291;291	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	291	ENSP00000347076:D291N;ENSP00000347995:D291N;ENSP00000384164:D291N	ENSP00000347076:D291N	D	-	1	0	KIF16B	16434496	1.000000	0.71417	0.994000	0.49952	0.384000	0.30261	7.419000	0.80179	2.873000	0.98535	0.563000	0.77884	GAT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.358	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	C	NM_017683		16486496	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16486496	C	T	16486496	3	4	5	1	0	0	0	0	1	0	0	0	8298	826	29	1	3154	1	KIF16B	20	16486496	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08		16486496	46539024	70	411										
SNTA1	6640	genome.wustl.edu	37	chr20	32000556	32000556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tggccctcaggaagagggtgTcttgaccatctgccgagcag	14	11	3	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:32000556T>C	ENST00000217381.2	-	4	1005	c.734A>G	c.(733-735)gAc>gGc	p.D245G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	245	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GAAGAGGGTGTCTTGACCATC	0.597																																																	0													43	31	35					20																	32000556		2203	4300	6503	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.734A>G	20.37:g.32000556T>C	ENSP00000217381:p.Asp245Gly		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.D245G	ENST00000217381.2	37	c.734	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	t	11.99	1.803104	0.31869	.	.	ENSG00000101400	ENST00000217381	T	0.55588	0.51	4.98	3.88	0.44766	Pleckstrin homology domain (2);	0.053036	0.64402	D	0.000001	T	0.42899	0.1223	L	0.39898	1.24	0.37255	D	0.906719	B;B	0.22909	0.077;0.001	B;B	0.35655	0.207;0.008	T	0.33033	-0.9884	10	0.21014	T	0.42	-8.2896	5.4651	0.16637	0.1946:0.0851:0.0:0.7203	.	245;245	B4DX40;Q13424	.;SNTA1_HUMAN	G	245	ENSP00000217381:D245G	ENSP00000217381:D245G	D	-	2	0	SNTA1	31464217	0.024000	0.19004	0.996000	0.52242	0.838000	0.47535	2.206000	0.42779	0.757000	0.33036	0.454000	0.30748	GAC	SNTA1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	T	NM_003098		32000556	-1	no_errors	ENST00000217381	ensembl	human	known	70_37	missense	SNP	0.962	C	C	32000556	T	C	32000556	3	2	5	1	0	0	0	0	1	0	0	0	14901	1667	58	5	803	5	SNTA1	20	32000556	Missense_Mutation	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08	15514060	32000556	31024964	71	412										
CTNNBL1	56259	genome.wustl.edu	37	chr20	36470756	36470756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ttcaggttgacagactaatgGagttgcattttaaatatctg	9	5	2	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:36470756G>C	ENST00000361383.6	+	13	1444	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E191Q|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E256Q|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.E416Q	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	443					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACTAATGGAGTTGCATTT	0.448																																					Ovarian(184;582 2038 3273 4106 42608)												0													153	123	133					20																	36470756		2203	4300	6503	SO:0001583	missense	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1327G>C	20.37:g.36470756G>C	ENSP00000355050:p.Glu443Gln		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.E416Q	ENST00000361383.6	37	c.1246	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464936	0.84425	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.53206	0.73;0.73;0.63;0.63	5.12	5.12	0.69794	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.72211	-0.4359	10	0.66056	D	0.02	-19.6517	17.5716	0.87935	0.0:0.0:1.0:0.0	.	443;256	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	Q	443;416;256;191	ENSP00000355050:E443Q;ENSP00000384355:E416Q;ENSP00000362572:E256Q;ENSP00000362568:E191Q	ENSP00000355050:E443Q	E	+	1	0	CTNNBL1	35904170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.090000	0.94144	2.391000	0.81399	0.650000	0.86243	GAG	CTNNBL1	-	superfamily_ARM-type_fold		0.448	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	G	NM_030877		36470756	1	no_errors	ENST00000405275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36470756	G	C	36470756	3	2	5	1	0	0	0	0	1	0	0	0	4023	1175	41	1	1377	1	CTNNBL1	20	36470756	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	4470200	36470756	26554764	72	413										
JPH2	57158	genome.wustl.edu	37	chr20	42815230	42815230	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	agccaaagttccaggagccaGagtattcgccctggcccttg	11	13	0	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:42815230G>A	ENST00000372980.3	-	1	988	c.116C>T	c.(115-117)tCt>tTt	p.S39F	JPH2_ENST00000342272.3_Missense_Mutation_p.S39F	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	39	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGGAGCCAGAGTATTCGCC	0.617																																																	0													55	50	52					20																	42815230		2203	4300	6503	SO:0001583	missense	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.116C>T	20.37:g.42815230G>A	ENSP00000362071:p.Ser39Phe		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.S39F	ENST00000372980.3	37	c.116	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	g	17.92	3.506207	0.64410	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55760	0.96;0.5	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	L	0.55213	1.73	0.80722	D	1	B;P	0.45240	0.022;0.854	B;P	0.51895	0.047;0.683	T	0.66440	-0.5923	10	0.62326	D	0.03	.	17.4267	0.87528	0.0:0.0:1.0:0.0	.	39;39	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	F	39	ENSP00000362071:S39F;ENSP00000344590:S39F	ENSP00000344590:S39F	S	-	2	0	JPH2	42248644	1.000000	0.71417	0.963000	0.40424	0.992000	0.81027	9.372000	0.97165	2.100000	0.63781	0.556000	0.70494	TCT	JPH2	-	pfam_MORN,pirsf_Junctophilin		0.617	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1	G			42815230	-1	no_errors	ENST00000372980	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42815230	G	A	42815230	3	1	5	1	0	0	0	0	1	0	0	0	7981	942	33	1	2009	1	JPH2	20	42815230	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	6344474	42815230	20210290	73	414										
TUBB1	81027	genome.wustl.edu	37	chr20	57598816	57598816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	actacacggagggagccgagCtgatcgagaatgtcctagag	14	9	0	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chr20:57598816C>T	ENST00000217133.1	+	4	603	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	112					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGGAGCCGAGCTGATCGAGAA	0.592																																																	0													86	94	91					20																	57598816		2203	4300	6503	SO:0001819	synonymous_variant	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.334C>T	20.37:g.57598816C>T				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.L112	ENST00000217133.1	37	c.334	CCDS13475.1	20																																																																																			TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin		0.592	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	C	NM_030773		57598816	1	no_errors	ENST00000217133	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57598816	C	T	57598816	2	4	5	1	0	0	0	0	0	0	0	1	16784	796	28	4		4	TUBB1	20	57598816	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	14783586	57598816	5426704	74	415										
SSX7	280658	genome.wustl.edu	37	chrX	52681347	52681347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	atcaaaatcattcccctggaGgtctgtggcccctgtattat	8	11	3	0			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:52681347G>T	ENST00000298181.5	-	4	393	c.235C>A	c.(235-237)Ctc>Atc	p.L79I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	79	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTCCCCTGGAGGTCTGTGGCC	0.493																																																	0													168	151	156					X																	52681347		2203	4300	6503	SO:0001583	missense	280658			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.235C>A	X.37:g.52681347G>T	ENSP00000298181:p.Leu79Ile			Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L79I	ENST00000298181.5	37	c.235	CCDS14343.1	X	.	.	.	.	.	.	.	.	.	.	N	1.436	-0.569026	0.03910	.	.	ENSG00000187754	ENST00000298181	T	0.08458	3.09	0.725	-1.45	0.08828	Krueppel-associated box (1);Krueppel-associated box-related (1);	1.020160	0.07837	N	0.962333	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B	0.20164	0.042	B	0.23150	0.044	T	0.42832	-0.9428	9	0.30854	T	0.27	.	.	.	.	.	79	Q7RTT5	SSX7_HUMAN	I	79	ENSP00000298181:L79I	ENSP00000298181:L79I	L	-	1	0	SSX7	52698072	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.000000	0.12993	-1.882000	0.01122	-2.346000	0.00244	CTC	SSX7	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.493	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	HGNC	protein_coding	OTTHUMT00000056671.1	G	NM_173358		52681347	-1	no_errors	ENST00000298181	ensembl	human	known	70_37	missense	SNP	0.000	T	T	52681347	G	T	52681347	3	4	5	1	0	0	0	0	1	0	0	0	15239	1000	35	4	347	4	SSX7	23	52681347	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08		52681347	102589213	75	416										
FOXO4	4303	genome.wustl.edu	37	chrX	70321381	70321381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ggttcccaccctttctatgaTagcaccacctccagtcatgg	7	15	2	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:70321381T>C	ENST00000374259.3	+	2	1633	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T	FOXO4_ENST00000341558.3_Missense_Mutation_p.I379T	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	434					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTTCTATGATAGCACCACCT	0.617																																																	0													62	62	62					X																	70321381		1945	4127	6072	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1301T>C	X.37:g.70321381T>C	ENSP00000363377:p.Ile434Thr		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I434T	ENST00000374259.3	37	c.1301	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	T	3.606	-0.080622	0.07141	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95307	-3.44;-3.67	5.05	5.05	0.67936	.	1.083580	0.07181	N	0.854045	D	0.90055	0.6894	L	0.29908	0.895	0.09310	N	1	B;B	0.22211	0.066;0.039	B;B	0.15870	0.014;0.006	T	0.75051	-0.3454	10	0.09338	T	0.73	-22.6855	13.0186	0.58773	0.0:0.0:0.0:1.0	.	379;434	P98177-2;P98177	.;FOXO4_HUMAN	T	434;379	ENSP00000363377:I434T;ENSP00000342209:I379T	ENSP00000342209:I379T	I	+	2	0	FOXO4	70238106	0.006000	0.16342	0.216000	0.23742	0.901000	0.52897	0.492000	0.22435	1.867000	0.54127	0.486000	0.48141	ATA	FOXO4	-	NULL		0.617	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	T	NM_005938		70321381	1	no_errors	ENST00000374259	ensembl	human	known	70_37	missense	SNP	0.258	C	C	70321381	T	C	70321381	3	2	5	1	0	0	0	0	1	0	0	0	6043	1406	49	5	1307	5	FOXO4	23	70321381	Missense_Mutation	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08	17640034	70321381	84949179	76	417										
MAGT1	84061	genome.wustl.edu	37	chrX	77150816	77150816	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	gcgttctcacctccttctttCtttgggcagaggctgaggga	12	11	3	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:77150816C>A	ENST00000373336.3	-	1	121	c.92G>T	c.(91-93)aGa>aTa	p.R31I	MAGT1_ENST00000358075.6_Missense_Mutation_p.R63I			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	31					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTCCTTCTTTCTTTGGGCAGA	0.587																																																	0													105	78	87					X																	77150816		2203	4296	6499	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.92G>T	X.37:g.77150816C>A	ENSP00000362433:p.Arg31Ile		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.R63I	ENST00000373336.3	37	c.188		X	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306820	0.40795	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.46819	0.86;0.89	4.41	4.41	0.53225	.	0.127047	0.47093	D	0.000255	T	0.39436	0.1078	L	0.50333	1.59	0.43782	D	0.996311	B;B	0.23058	0.012;0.079	B;B	0.25987	0.027;0.065	T	0.29579	-1.0007	10	0.34782	T	0.22	-10.3754	7.4676	0.27330	0.0:0.8805:0.0:0.1195	.	31;63	Q9H0U3;B4DH58	MAGT1_HUMAN;.	I	63;31	ENSP00000354649:R63I;ENSP00000362433:R31I	ENSP00000354649:R63I	R	-	2	0	MAGT1	77037472	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.019000	0.41001	2.165000	0.68154	0.544000	0.68410	AGA	MAGT1	-	NULL		0.587	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057302.2	C	NM_032121		77150816	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	missense	SNP	0.999	A	A	77150816	C	A	77150816	3	1	5	1	0	0	0	0	1	0	0	0	9219	913	32	3	955	3	MAGT1	23	77150816	Missense_Mutation	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	6829435	77150816	78119744	77	418										
GUCY2F	2986	genome.wustl.edu	37	chrX	108673542	108673542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	aagatttctcataccatttcGaacacatcacttgctcttga	4	11	3	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:108673542G>A	ENST00000218006.2	-	8	2076	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388																																																	0													197	196	197					X																	108673542		2203	4300	6503	SO:0001819	synonymous_variant	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1785C>T	X.37:g.108673542G>A			Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.F595	ENST00000218006.2	37	c.1785	CCDS14545.1	X																																																																																			GUCY2F	-	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,pfscan_Prot_kinase_cat_dom		0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108673542	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	silent	SNP	1.000	A	A	108673542	G	A	108673542	2	1	5	1	0	0	0	0	0	0	0	1	6918	1049	37	1		1	GUCY2F	23	108673542	Silent	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	31522726	108673542	46597018	78	419										
KIAA1210	57481	genome.wustl.edu	37	chrX	118222151	118222151	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tatctggggagtagtggctcCacagaaatgactctctcaac	10	10	3	2			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:118222151C>G	ENST00000402510.2	-	11	3041	c.3042G>C	c.(3040-3042)gtG>gtC	p.V1014V		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1014										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTAGTGGCTCCACAGAAATGA	0.458																																																	0													109	106	107					X																	118222151		1964	4133	6097	SO:0001819	synonymous_variant	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3042G>C	X.37:g.118222151C>G			B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.V1014	ENST00000402510.2	37	c.3042	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	2.460	-0.324325	0.05350	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.57	2.73	0.32206	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	.	6.6815	0.23123	0.2031:0.6043:0.1926:0.0	.	.	.	.	R	421	.	.	G	-	1	0	KIAA1210	118106179	0.018000	0.18449	0.001000	0.08648	0.012000	0.07955	0.918000	0.28678	0.601000	0.29879	0.600000	0.82982	GGA	KIAA1210	-	NULL		0.458	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118222151	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	silent	SNP	0.000	G	G	118222151	C	G	118222151	2	3	5	1	0	0	0	0	0	0	0	1	8234	581	21	4		4	KIAA1210	23	118222151	Silent	SNP	C	TCGA-C5-A1BE-01B-11D-A13W-08	9548609	118222151	37048409	79	420										
ENOX2	10495	genome.wustl.edu	37	chrX	129769012	129769012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	tgtaacttgtcatctttgagTttttcaagttcagcttcttt	6	7	5	1			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:129769012T>C	ENST00000370927.1	-	10	1473	c.1452A>G	c.(1450-1452)aaA>aaG	p.K484K	ENOX2_ENST00000370935.1_Silent_p.K455K|ENOX2_ENST00000394363.1_Silent_p.K455K|ENOX2_ENST00000338144.3_Silent_p.K484K			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	484					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CATCTTTGAGTTTTTCAAGTT	0.363																																					Ovarian(101;828 1506 2951 9500 35258)												0													114	98	103					X																	129769012		2203	4299	6502	SO:0001819	synonymous_variant	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1452A>G	X.37:g.129769012T>C			A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K484	ENST00000370927.1	37	c.1452	CCDS14626.1	X																																																																																			ENOX2	-	NULL		0.363	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	T	NM_182314		129769012	-1	no_errors	ENST00000338144	ensembl	human	known	70_37	silent	SNP	0.988	C	C	129769012	T	C	129769012	2	2	5	1	0	0	0	0	0	0	0	1	5139	1722	60	5		5	ENOX2	23	129769012	Silent	SNP	T	TCGA-C5-A1BE-01B-11D-A13W-08	11546861	129769012	25501548	80	421										
HTATSF1	27336	genome.wustl.edu	37	chrX	135582899	135582899	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	attattatgagagatcctcaGacagaagaatttaaggtcaa	8	5	2	5			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:135582899G>C	ENST00000218364.4	+	4	666	c.492G>C	c.(490-492)caG>caC	p.Q164H	HTATSF1_ENST00000535601.1_Missense_Mutation_p.Q164H	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	164	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGATCCTCAGACAGAAGAAT	0.308																																																	0													94	99	97					X																	135582899		2203	4295	6498	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.492G>C	X.37:g.135582899G>C	ENSP00000218364:p.Gln164His		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q164H	ENST00000218364.4	37	c.492	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118023	0.37339	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.25579	1.79;1.79	5.9	0.1	0.14510	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.378755	0.30791	N	0.008877	T	0.15003	0.0362	N	0.16903	0.455	0.45690	D	0.998604	P	0.42078	0.77	B	0.42692	0.395	T	0.04621	-1.0938	10	0.62326	D	0.03	-7.5097	6.5027	0.22178	0.3986:0.0:0.4828:0.1186	.	164	O43719	HTSF1_HUMAN	H	164	ENSP00000442699:Q164H;ENSP00000218364:Q164H	ENSP00000218364:Q164H	Q	+	3	2	HTATSF1	135410565	0.996000	0.38824	0.996000	0.52242	0.994000	0.84299	0.455000	0.21843	-0.109000	0.12044	0.544000	0.68410	CAG	HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.308	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135582899	1	no_errors	ENST00000218364	ensembl	human	known	70_37	missense	SNP	0.920	C	C	135582899	G	C	135582899	3	2	5	1	0	0	0	0	1	0	0	0	7453	933	33	1	506	1	HTATSF1	23	135582899	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	5813887	135582899	19687661	81	422										
UBE2NL	389898	genome.wustl.edu	37	chrX	142967284	142967284	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	ctggcatcaaagcagaaccaGatgaaagcaacgcccgttat	9	11	1	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:142967284G>A	ENST00000370494.1	+	1	112	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	28						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAACCAGATGAAAGCAA	0.507																																																	0													81	78	79					X																	142967284		2203	4300	6503	SO:0001583	missense	389898					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.82G>A	X.37:g.142967284G>A	ENSP00000359525:p.Asp28Asn		E9KL27	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D28N	ENST00000370494.1	37	c.82	CCDS35420.1	X	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410988	0.11812	.	.	ENSG00000102069	ENST00000370494	T	0.72942	-0.7	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.123820	0.29059	U	0.013268	T	0.54255	0.1847	L	0.35414	1.06	0.54753	D	0.999987	B	0.13594	0.008	B	0.22880	0.042	T	0.43410	-0.9393	10	0.27785	T	0.31	0.2815	7.8005	0.29172	0.0:0.0:1.0:0.0	.	28	Q5JXB2	UE2NL_HUMAN	N	28	ENSP00000359525:D28N	ENSP00000359525:D28N	D	+	1	0	UBE2NL	142794950	1.000000	0.71417	0.367000	0.25926	0.006000	0.05464	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GAT	UBE2NL	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.507	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2NL	HGNC	protein_coding	OTTHUMT00000058624.1	G	NM_001012989		142967284	1	no_errors	ENST00000370494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142967284	G	A	142967284	3	1	5	1	0	0	0	0	1	0	0	0	16898	942	33	1	84	1	UBE2NL	23	142967284	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	7384385	142967284	12303276	82	423										
MAGEA1	4100	genome.wustl.edu	37	chrX	152482140	152482140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.289156626506024	24	1.95833978752431e-06	2.84629294755877	3.32067510548523	2.7431663914878	0.000279050211277706	0.00235372786903804	16	cagggatgggaagaaaaagcGaactcttgcactgaccttga	12	8	1	3			TCGA-C5-A1BE-01B-11D-A13W-08	TCGA-C5-A1BE-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac	7d05a76b-1885-47d5-a8b3-08b2a1b401b4	g.chrX:152482140G>A	ENST00000356661.5	-	3	1089	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	291	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAAAAGCGAACTCTTGCA	0.557																																																	0													133	126	129					X																	152482140		2203	4300	6503	SO:0001583	missense	4100				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.871C>T	X.37:g.152482140G>A	ENSP00000349085:p.Arg291Cys		B2RC81|O00346	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R291C	ENST00000356661.5	37	c.871	CCDS14720.1	X	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155447	0.21454	.	.	ENSG00000198681	ENST00000356661	T	0.01821	4.62	1.28	-2.55	0.06288	.	0.240065	0.42964	D	0.000630	T	0.02571	0.0078	M	0.68317	2.08	0.09310	N	1	D	0.69078	0.997	P	0.47645	0.553	T	0.33624	-0.9861	10	0.87932	D	0	.	2.7946	0.05397	0.3979:0.2477:0.3544:0.0	.	291	P43355	MAGA1_HUMAN	C	291	ENSP00000349085:R291C	ENSP00000349085:R291C	R	-	1	0	MAGEA1	152135334	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.227000	0.09126	-1.112000	0.02984	-1.130000	0.01982	CGC	MAGEA1	-	pfscan_MAGE		0.557	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA1	HGNC	protein_coding	OTTHUMT00000060940.1	G	NM_004988		152482140	-1	no_errors	ENST00000356661	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152482140	G	A	152482140	3	1	5	1	0	0	0	0	1	0	0	0	9186	1058	37	1	62	1	MAGEA1	23	152482140	Missense_Mutation	SNP	G	TCGA-C5-A1BE-01B-11D-A13W-08	9514856	152482140	2788420	83	424										
IL28RA	163702	genome.wustl.edu	37	chr1	24483816	24483816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cagggaccagattcggctccGgtggtaaggtgccccaggtg	16	11	0	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:24483816G>A	ENST00000327535.1	-	7	1379	c.1367C>T	c.(1366-1368)cCg>cTg	p.P456L	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P427L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	456					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											ATTCGGCTCCGGTGGTAAGGT	0.587																																																	0													67	78	74					1																	24483816		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1367C>T	1.37:g.24483816G>A	ENSP00000327824:p.Pro456Leu		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.P456L	ENST00000327535.1	37	c.1367	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319931	0.60634	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.62	4.7	0.59300	.	0.765168	0.12399	N	0.472258	T	0.53045	0.1772	L	0.59436	1.845	0.27399	N	0.954914	D;D	0.76494	0.997;0.999	P;P	0.55011	0.588;0.766	T	0.44436	-0.9328	9	0.39692	T	0.17	-1.9298	12.2595	0.54642	0.0:0.0:0.8302:0.1698	.	456;427	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	L	456;427	.	ENSP00000327824:P456L	P	-	2	0	IL28RA	24356403	0.052000	0.20516	0.003000	0.11579	0.002000	0.02628	0.874000	0.28065	1.492000	0.48499	0.655000	0.94253	CCG	IL28RA	-	NULL		0.587	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	G	NM_170743		24483816	-1	no_errors	ENST00000327535	ensembl	human	known	70_37	missense	SNP	0.009	A	A	24483816	G	A	24483816	3	1	6	1	0	0	0	0	1	0	0	0	7704	1116	39	2	199	2	IL28RA	1	24483816	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		24483816	224766805	1	425										
FOXD2	2306	genome.wustl.edu	37	chr1	47904449	47904449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gccgacatgttcgacaacggCagcttcctgcggcgtcgcaa	12	14	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:47904449C>T	ENST00000334793.5	+	1	2761	c.642C>T	c.(640-642)ggC>ggT	p.G214G		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	214					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TCGACAACGGCAGCTTCCTGC	0.706																																																	0													32	40	37					1																	47904449		2202	4299	6501	SO:0001819	synonymous_variant	2306			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.642C>T	1.37:g.47904449C>T			Q5SVZ3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G214	ENST00000334793.5	37	c.642	CCDS30708.1	1																																																																																			FOXD2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.706	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	HGNC	protein_coding	OTTHUMT00000021831.1	C	NM_004474		47904449	1	no_errors	ENST00000334793	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47904449	C	T	47904449	2	4	6	1	0	0	0	0	0	0	0	1	6015	697	25	4		4	FOXD2	1	47904449	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	23420633	47904449	201346172	2	426										
HFM1	164045	genome.wustl.edu	37	chr1	91731634	91731634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gaaggggtagcttacttcccCtggtacttgaactcaaagtg	11	9	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:91731634C>A	ENST00000370425.3	-	36	4012	c.3914G>T	c.(3913-3915)aGg>aTg	p.R1305M	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Missense_Mutation_p.R984M|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1305					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTACTTCCCCTGGTACTTGA	0.353																																																	0													164	148	153					1																	91731634		1845	4078	5923	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3914G>T	1.37:g.91731634C>A	ENSP00000359454:p.Arg1305Met		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1305M	ENST00000370425.3	37	c.3914	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.307381|1.307381	0.23821|0.23821	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000370424	.|T;T	.|0.64991	.|0.27;-0.13	5.18|5.18	-0.402|-0.402	0.12404|0.12404	.|.	.|0.605324	.|0.15860	.|N	.|0.241081	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14012	.|0.009;0.004	.|B;B	.|0.12156	.|0.007;0.002	T|T	0.12372|0.12372	-1.0550|-1.0550	5|10	.|0.42905	.|T	.|0.14	.|.	0.9759|0.9759	0.01426|0.01426	0.3145:0.3519:0.1535:0.1802|0.3145:0.3519:0.1535:0.1802	.|.	.|516;1305	.|B1B0B5;A2PYH4	.|.;HFM1_HUMAN	W|M	517|1305;984	.|ENSP00000359454:R1305M;ENSP00000359453:R984M	.|ENSP00000359453:R984M	G|R	-|-	1|2	0|0	HFM1|HFM1	91504222|91504222	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.865000|0.865000	0.49528|0.49528	-0.569000|-0.569000	0.05902|0.05902	0.259000|0.259000	0.21709|0.21709	0.655000|0.655000	0.94253|0.94253	GGG|AGG	HFM1	-	NULL		0.353	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91731634	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.000	A	A	91731634	C	A	91731634	3	1	6	1	0	0	0	0	1	0	0	0	7103	681	24	4	409	4	HFM1	1	91731634	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	43827185	91731634	157518987	3	427										
OLFM3	118427	genome.wustl.edu	37	chr1	102290786	102290786	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	caaaggcaggagctcgtccaTtttctctttcaactcctgtg	8	12	2	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:102290786T>A	ENST00000338858.5	-	4	447	c.448A>T	c.(448-450)Atg>Ttg	p.M150L	OLFM3_ENST00000359814.3_Missense_Mutation_p.M150L|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.M130L|OLFM3_ENST00000536598.1_Missense_Mutation_p.M55L			Q96PB7	NOE3_HUMAN	olfactomedin 3	150					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCTCGTCCATTTTCTCTTTC	0.403																																																	0													65	65	65					1																	102290786		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.448A>T	1.37:g.102290786T>A	ENSP00000345192:p.Met150Leu		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.M150L	ENST00000338858.5	37	c.448		1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.988113	0.53934	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.86956	-2.14;-2.19;-0.15;0.6	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.71581	2.175	0.50632	D	0.99988	B;P	0.35745	0.435;0.518	B;P	0.44647	0.155;0.456	D	0.87693	0.2555	10	0.51188	T	0.08	.	16.1368	0.81492	0.0:0.0:0.0:1.0	.	130;150	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	1;130;150;55;150	ENSP00000359121:M130L;ENSP00000345192:M150L;ENSP00000443471:M55L;ENSP00000352867:M150L	ENSP00000345192:M150L	M	-	1	0	OLFM3	102063374	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	8.020000	0.88740	2.213000	0.71641	0.533000	0.62120	ATG	OLFM3	-	superfamily_Quino_amine_DH_bsu		0.403	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	T			102290786	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102290786	T	A	102290786	3	1	6	1	0	0	0	0	1	0	0	0	10878	1493	52	5	1000	5	OLFM3	1	102290786	Missense_Mutation	SNP	T	TCGA-C5-A1BF-01B-11D-A13W-08	10559152	102290786	146959835	4	428										
PHTF1	10745	genome.wustl.edu	37	chr1	114254388	114254388	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctggctgaaggctgctgattCaaattctgattcagccagac	10	10	3	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:114254388C>A	ENST00000369604.1	-	10	1510	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*	PHTF1_ENST00000369596.2_Nonsense_Mutation_p.E290*|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Nonsense_Mutation_p.E343*|PHTF1_ENST00000393357.2_Nonsense_Mutation_p.E343*|PHTF1_ENST00000369600.1_Nonsense_Mutation_p.E290*|PHTF1_ENST00000369598.1_Nonsense_Mutation_p.E298*			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	343					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCTGATTCAAATTCTGAT	0.383																																																	0													59	59	59					1																	114254388		2203	4300	6503	SO:0001587	stop_gained	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1027G>T	1.37:g.114254388C>A	ENSP00000358617:p.Glu343*		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Nonsense_Mutation	SNP	pfam_TF_homeodomain_male	p.E343*	ENST00000369604.1	37	c.1027	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.841845|3.841845	0.71488|0.71488	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.058900|.	0.64402|.	D|.	0.000003|.	.|T	.|0.67608	.|0.2911	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64993	.|-0.6276	.|4	0.05436|.	T|.	0.98|.	-25.2297|-25.2297	17.3773|17.3773	0.87396|0.87396	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	298;343;290;298;290;343;343|98	.|.	ENSP00000350428:E343X|.	E|L	-|-	1|3	0|2	PHTF1|PHTF1	114055911|114055911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.655000|0.655000	0.38815|0.38815	4.849000|4.849000	0.62882|0.62882	2.767000|2.767000	0.95098|0.95098	0.557000|0.557000	0.71058|0.71058	GAA|TTG	PHTF1	-	NULL		0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	C	NM_006608		114254388	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	114254388	C	A	114254388	4	1	6	1	0	0	0	0	0	1	0	0	11886	835	29	3	1301	3	PHTF1	1	114254388	Nonsense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	11963602	114254388	134996233	5	429										
IQGAP3	128239	genome.wustl.edu	37	chr1	156534463	156534463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttctttttgtcatagatgtcCgtggtctctgggaagaaggt	12	6	3	2	rs138994698		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:156534463C>T	ENST00000361170.2	-	5	391	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	127	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATAGATGTCCGTGGTCTCTG	0.507																																																	0								C		0,4406		0,0,2203	125	118	120		381	-6	0.9	1	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IQGAP3	NM_178229.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		127/1632	156534463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.381G>A	1.37:g.156534463C>T			Q5T3H8	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.T127	ENST00000361170.2	37	c.381	CCDS1144.1	1																																																																																			IQGAP3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	C	NM_178229		156534463	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	silent	SNP	0.120	T	T	156534463	C	T	156534463	2	4	6	1	0	0	0	0	0	0	0	1	7836	639	23	2		2	IQGAP3	1	156534463	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	42280075	156534463	92716158	6	430										
C1orf125	126859	genome.wustl.edu	37	chr1	179363044	179363044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgtttgtcatgcagagagagGtatgtgcaaatgcttgacca	12	6	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:179363044G>C	ENST00000367618.3	+	10	1257	c.870G>C	c.(868-870)agG>agC	p.R290S	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R290S	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	290										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCAGAGAGAGGTATGTGCAAA	0.383																																																	0													110	105	107					1																	179363044		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.870G>C	1.37:g.179363044G>C	ENSP00000356590:p.Arg290Ser		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R290S	ENST00000367618.3	37	c.870	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637955	0.29157	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51325	1.98;0.71;2.0	5.51	1.64	0.23874	.	0.228496	0.45126	D	0.000388	T	0.47414	0.1444	L	0.48642	1.525	0.24765	N	0.992908	D;P;D	0.58268	0.982;0.954;0.972	P;P;P	0.55055	0.767;0.69;0.742	T	0.36625	-0.9740	10	0.59425	D	0.04	-0.6366	4.9002	0.13771	0.3202:0.1448:0.5351:0.0	.	248;290;290	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	290;248;290;224	ENSP00000356590:R290S;ENSP00000416712:R290S;ENSP00000391716:R224S	ENSP00000353471:R248S	R	+	3	2	AXDND1	177629667	0.994000	0.37717	0.980000	0.43619	0.017000	0.09413	0.086000	0.14935	0.058000	0.16222	-0.796000	0.03273	AGG	AXDND1	-	pfam_Axonemal_dynein_light_chain		0.383	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	G	NM_144696		179363044	1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.996	C	C	179363044	G	C	179363044	3	2	6	1	0	0	0	0	1	0	0	0	1998	1252	44	4	904	4	C1orf125	1	179363044	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	22828581	179363044	69887577	7	431										
PRG4	10216	genome.wustl.edu	37	chr1	186277493	186277493	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgaatcaactcctgagctttCtgcagaacccacaccaaaag	6	13	2	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:186277493C>T	ENST00000445192.2	+	7	2687	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	PRG4_ENST00000367483.4_Missense_Mutation_p.S840F|PRG4_ENST00000367486.3_Missense_Mutation_p.S838F|PRG4_ENST00000367484.3_Missense_Mutation_p.S410F|PRG4_ENST00000367485.4_Missense_Mutation_p.S788F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	881					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCTGAGCTTTCTGCAGAACCC	0.483																																																	0													147	151	150					1																	186277493		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2642C>T	1.37:g.186277493C>T	ENSP00000399679:p.Ser881Phe		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S881F	ENST00000445192.2	37	c.2642	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505953	0.26949	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05382	3.45;3.53;3.58;3.46;3.57	2.34	2.34	0.29019	.	1.199790	0.06590	U	0.751846	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	0.999995	P;P;P;P	0.46327	0.876;0.876;0.804;0.876	B;B;B;B	0.37888	0.26;0.26;0.133;0.26	T	0.49173	-0.8967	10	0.62326	D	0.03	-0.0019	13.4839	0.61353	0.0:1.0:0.0:0.0	.	747;788;881;840	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	F	838;410;747;840;788;881	ENSP00000356456:S838F;ENSP00000356454:S410F;ENSP00000356453:S840F;ENSP00000356455:S788F;ENSP00000399679:S881F	ENSP00000356452:S747F	S	+	2	0	PRG4	184544116	0.000000	0.05858	0.003000	0.11579	0.385000	0.30292	-0.177000	0.09796	1.284000	0.44531	0.413000	0.27773	TCT	PRG4	-	NULL		0.483	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186277493	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.288	T	T	186277493	C	T	186277493	3	4	6	1	0	0	0	0	1	0	0	0	12508	913	32	1	2664	1	PRG4	1	186277493	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	6914449	186277493	62973128	8	432										
PRG4	10216	genome.wustl.edu	37	chr1	186277798	186277798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttaaaacaactactcttgcaCccaaagtaactacaacaaaa	2	11	1	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:186277798C>T	ENST00000445192.2	+	7	2992	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S	PRG4_ENST00000367483.4_Missense_Mutation_p.P942S|PRG4_ENST00000367486.3_Missense_Mutation_p.P940S|PRG4_ENST00000367484.3_Missense_Mutation_p.P512S|PRG4_ENST00000367485.4_Missense_Mutation_p.P890S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	983					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TACTCTTGCACCCAAAGTAAC	0.353																																																	0													185	202	196					1																	186277798		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2947C>T	1.37:g.186277798C>T	ENSP00000399679:p.Pro983Ser		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P983S	ENST00000445192.2	37	c.2947	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404821	0.11754	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06768	3.26;3.49;3.36;3.26;3.37	3.51	2.57	0.30868	.	0.152863	0.30446	N	0.009604	T	0.08403	0.0209	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.33318	0.408;0.194;0.123;0.194	B;B;B;B	0.35727	0.209;0.107;0.062;0.131	T	0.19778	-1.0295	10	0.87932	D	0	-2.2833	7.7647	0.28972	0.2737:0.4517:0.2746:0.0	.	849;890;983;942	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	940;512;849;942;890;983	ENSP00000356456:P940S;ENSP00000356454:P512S;ENSP00000356453:P942S;ENSP00000356455:P890S;ENSP00000399679:P983S	ENSP00000356452:P849S	P	+	1	0	PRG4	184544421	0.000000	0.05858	0.349000	0.25694	0.314000	0.28054	-0.090000	0.11163	0.579000	0.29504	0.485000	0.47835	CCC	PRG4	-	NULL		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186277798	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.104	T	T	186277798	C	T	186277798	3	4	6	1	0	0	0	0	1	0	0	0	12508	507	18	4	2969	4	PRG4	1	186277798	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	305	186277798	62972823	9	433										
IGFN1	91156	genome.wustl.edu	37	chr1	201169419	201169419	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gagcagatatggcagctgctGatgacagcagacaggaagga	15	7	0	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:201169419G>A	ENST00000295591.8	+	0	643				IGFN1_ENST00000335211.4_Silent_p.L171L|IGFN1_ENST00000451870.2_Silent_p.L171L			Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGCTGCTGATGACAGCAG	0.562																																																	0													78	93	89					1																	201169419		692	1591	2283			91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728		1.37:g.201169419G>A			F8WAI1|Q9NT72	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L171	ENST00000295591.8	37	c.513		1																																																																																			IGFN1	-	NULL		0.562	IGFN1-201	KNOWN	basic	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201169419	1	no_errors	ENST00000335211	ensembl	human	known	70_37	silent	SNP	0.998	A	A	201169419	G	A	201169419	1	1	6	1	0	1	0	0	0	0	0	0	7610	1277	45	1		1	IGFN1	1	201169419	De_novo_Start_InFrame	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	14891621	201169419	48081202	10	434										
PGBD5	79605	genome.wustl.edu	37	chr1	230486821	230486821	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aatacaggatcctcatcgatCaggggttcatgtagcacctg	10	10	3	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:230486821C>T	ENST00000525115.1	-	3	593	c.570G>A	c.(568-570)ctG>ctA	p.L190L	PGBD5_ENST00000321327.2_Silent_p.L289L|PGBD5_ENST00000391860.1_Silent_p.L144L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	190						integral component of membrane (GO:0016021)		p.L289L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCTCATCGATCAGGGGTTCAT	0.522																																																	1	Substitution - coding silent(1)	lung(1)											89	74	79					1																	230486821		2203	4300	6503	SO:0001819	synonymous_variant	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.570G>A	1.37:g.230486821C>T			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.L289	ENST00000525115.1	37	c.867		1																																																																																			PGBD5	-	NULL		0.522	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230486821	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	silent	SNP	1.000	T	T	230486821	C	T	230486821	2	4	6	1	0	0	0	0	0	0	0	1	11808	813	29	1		1	PGBD5	1	230486821	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	29317402	230486821	18763800	11	435										
SLC30A6	55676	genome.wustl.edu	37	chr2	32432000	32432000	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agttggacaaactcatcagaGaggtaagatggaatagtaaa	11	4	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:32432000G>C	ENST00000282587.5	+	12	851	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	SLC30A6_ENST00000406369.1_Missense_Mutation_p.E198Q|SLC30A6_ENST00000435660.1_Missense_Mutation_p.E272Q|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E75Q|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E243Q|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E312Q	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	272					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTCATCAGAGAGGTAAGATG	0.313																																																	0													97	94	95					2																	32432000		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.814G>C	2.37:g.32432000G>C	ENSP00000282587:p.Glu272Gln		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E272Q	ENST00000282587.5	37	c.814	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733675	0.89482	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.974;0.996;0.961;0.999	D;D;D;D	0.71656	0.924;0.928;0.919;0.974	T	0.74009	-0.3802	10	0.40728	T	0.16	-20.681	18.3378	0.90294	0.0:0.0:1.0:0.0	.	243;272;312;272	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	Q	312;272;272;243;75;198	ENSP00000368648:E312Q;ENSP00000282587:E272Q;ENSP00000399005:E272Q;ENSP00000440678:E243Q;ENSP00000349563:E75Q;ENSP00000384041:E198Q	ENSP00000282587:E272Q	E	+	1	0	SLC30A6	32285504	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.361000	0.97122	2.486000	0.83907	0.655000	0.94253	GAG	SLC30A6	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.313	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	HGNC	protein_coding	OTTHUMT00000250254.2	G			32432000	1	no_errors	ENST00000282587	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32432000	G	C	32432000	3	2	6	1	0	0	0	0	1	0	0	0	14589	943	33	1	860	1	SLC30A6	2	32432000	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		32432000	210767373	12	436										
SIX3	6496	genome.wustl.edu	37	chr2	45169642	45169642	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aaacacgagtcgatcctgcgCgcgcgcgccgtggtcgcctt	13	15	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:45169642C>A	ENST00000260653.3	+	1	741	c.399C>A	c.(397-399)cgC>cgA	p.R133R	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	133					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGATCCTGCGCGCGCGCGCCG	0.662																																																	0													12	15	14					2																	45169642		2072	4114	6186	SO:0001819	synonymous_variant	6496			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.399C>A	2.37:g.45169642C>A			D6W5A5|Q53T42	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R133	ENST00000260653.3	37	c.399	CCDS1821.1	2																																																																																			SIX3	-	NULL		0.662	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	C	NM_005413		45169642	1	no_errors	ENST00000260653	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45169642	C	A	45169642	2	1	6	1	0	0	0	0	0	0	0	1	14378	755	27	2		2	SIX3	2	45169642	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	12737642	45169642	198029731	13	437										
RNF149	284996	genome.wustl.edu	37	chr2	101911471	101911471	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	caggctaacgagataatcatCatggtgatgaaggcaatggc	12	7	2	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:101911471C>A	ENST00000295317.3	-	2	740	c.633G>T	c.(631-633)atG>atT	p.M211I		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	211					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGATAATCATCATGGTGATGA	0.443																																					Colon(25;331 612 6521 7355 31028)												0													115	108	110					2																	101911471		2203	4300	6503	SO:0001583	missense	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.633G>T	2.37:g.101911471C>A	ENSP00000295317:p.Met211Ile		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M211I	ENST00000295317.3	37	c.633	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728472	0.30593	.	.	ENSG00000163162	ENST00000295317	T	0.06768	3.26	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	L	0.34521	1.04	0.52501	D	0.999955	P	0.39831	0.69	B	0.36666	0.23	T	0.38134	-0.9675	10	0.28530	T	0.3	.	13.8073	0.63240	0.0:0.9268:0.0:0.0732	.	211	Q8NC42	RN149_HUMAN	I	211	ENSP00000295317:M211I	ENSP00000295317:M211I	M	-	3	0	RNF149	101277903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.123000	0.41996	1.259000	0.44117	0.591000	0.81541	ATG	RNF149	-	NULL		0.443	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	C	NM_173647		101911471	-1	no_errors	ENST00000295317	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101911471	C	A	101911471	3	1	6	1	0	0	0	0	1	0	0	0	13480	826	29	3	593	3	RNF149	2	101911471	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	56741829	101911471	141287902	14	438										
C2orf49	79074	genome.wustl.edu	37	chr2	105954074	105954074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gatgtgggcggtcgcagctgCacggactcggaactgctgct	16	11	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:105954074C>T	ENST00000258457.2	+	1	259	c.30C>T	c.(28-30)tgC>tgT	p.C10C	RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000410049.1_Silent_p.C10C|C2orf49_ENST00000437250.2_Silent_p.C48C			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	10					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTCGCAGCTGCACGGACTCGG	0.677																																																	0													27	29	28					2																	105954074		2203	4299	6502	SO:0001819	synonymous_variant	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"ashwin"					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.30C>T	2.37:g.105954074C>T			B3KXN3|B4E2G9	Silent	SNP	NULL	p.C10	ENST00000258457.2	37	c.30	CCDS2068.1	2																																																																																			C2orf49	-	NULL		0.677	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	C	NM_024093		105954074	1	no_errors	ENST00000258457	ensembl	human	known	70_37	silent	SNP	0.106	T	T	105954074	C	T	105954074	2	4	6	1	0	0	0	0	0	0	0	1	2176	718	25	4		4	C2orf49	2	105954074	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	4042603	105954074	137245299	15	439										
RANBP2	5903	genome.wustl.edu	37	chr2	109347309	109347309	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtcttctttatgaattggaaGaaaacacagacaaagccgtt	8	7	2	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:109347309G>A	ENST00000283195.6	+	3	346	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	74					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAATTGGAAGAAAACACAGA	0.348																																																	0													99	118	111					2																	109347309		1470	2559	4029	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.220G>A	2.37:g.109347309G>A	ENSP00000283195:p.Glu74Lys		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.E74K	ENST00000283195.6	37	c.220	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315086	0.81358	.	.	ENSG00000153201	ENST00000409491;ENST00000283195;ENST00000456637	T	0.61274	0.12	4.24	4.24	0.50183	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.49864	0.1582	L	0.29908	0.895	0.35780	D	0.821587	P	0.43231	0.801	B	0.43225	0.412	T	0.57556	-0.7791	9	0.26408	T	0.33	-28.2527	17.1647	0.86812	0.0:0.0:1.0:0.0	.	74	P49792	RBP2_HUMAN	K	74;74;48	ENSP00000283195:E74K	ENSP00000283195:E74K	E	+	1	0	RANBP2	108713741	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	8.675000	0.91195	2.351000	0.79841	0.585000	0.79938	GAA	RANBP2	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109347309	1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109347309	G	A	109347309	3	1	6	1	0	0	0	0	1	0	0	0	13058	943	33	1	230	1	RANBP2	2	109347309	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	3393235	109347309	133852064	16	440										
NEB	4703	genome.wustl.edu	37	chr2	152586147	152586147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	acctctcccggcacctcttcGtaaaccacttcttctgtgta	5	16	4	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:152586147G>A	ENST00000172853.10	-	4	207	c.60C>T	c.(58-60)taC>taT	p.Y20Y	NEB_ENST00000397345.3_Silent_p.Y20Y|NEB_ENST00000604864.1_Silent_p.Y20Y|NEB_ENST00000603639.1_Silent_p.Y20Y|NEB_ENST00000409198.1_Silent_p.Y20Y|NEB_ENST00000427231.2_Silent_p.Y20Y			P20929	NEBU_HUMAN	nebulin	20					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCACCTCTTCGTAAACCACTT	0.493																																																	0													120	117	118					2																	152586147		1983	4159	6142	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.60C>T	2.37:g.152586147G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y20	ENST00000172853.10	37	c.60		2																																																																																			NEB	-	NULL		0.493	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152586147	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	0.150	A	A	152586147	G	A	152586147	2	1	6	1	0	0	0	0	0	0	0	1	10326	1140	40	2		2	NEB	2	152586147	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	43238838	152586147	90613226	17	441										
TTN	7273	genome.wustl.edu	37	chr2	179612941	179612941	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtagggcacatgattcactaTagatttcttcagaaaaggat	9	6	3	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:179612941T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Y4729C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTCACTATAGATTTCTTC	0.348																																																	0													56	58	58					2																	179612941		2201	4294	6495	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4909A>G	2.37:g.179612941T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y4729C	ENST00000591111.1	37	c.14186		2	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901741	0.52227	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57107	0.42	6.05	1.07	0.20283	.	.	.	.	.	T	0.34716	0.0907	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22382	-1.0218	9	0.51188	T	0.08	.	5.9878	0.19444	0.0:0.2892:0.1651:0.5458	.	4729	Q8WZ42-6	.	C	4729;43	ENSP00000354117:Y4729C	ENSP00000304714:Y43C	Y	-	2	0	TTN	179321186	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.253000	0.18296	-0.035000	0.13691	0.528000	0.53228	TAT	TTN	-	NULL		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179612941	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.000	C	C	179612941	T	C	179612941	1	2	6	0	1	0	0	0	0	0	0	0	16766	1406	49	5		5	TTN	2	179612941	Intron	SNP	T	TCGA-C5-A1BF-01B-11D-A13W-08	27026794	179612941	63586432	18	442										
DOCK10	55619	genome.wustl.edu	37	chr2	225637916	225637916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agtttgagctgcagtctgatCatgtccacttcttccattgt	8	10	3	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:225637916C>G	ENST00000258390.7	-	53	6229	c.6162G>C	c.(6160-6162)atG>atC	p.M2054I	DOCK10_ENST00000409592.3_Missense_Mutation_p.M2048I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2054	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCAGTCTGATCATGTCCACTT	0.458																																																	0													106	102	104					2																	225637916		2179	4277	6456	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6162G>C	2.37:g.225637916C>G	ENSP00000258390:p.Met2054Ile		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M2054I	ENST00000258390.7	37	c.6162	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886759	0.91814	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.15372	2.43;2.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	L	0.53780	1.695	0.58432	D	0.999998	B;P;P	0.46706	0.37;0.785;0.883	B;P;P	0.57548	0.437;0.823;0.771	T	0.01720	-1.1288	10	0.66056	D	0.02	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	2054;2048;716	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	I	2048;2054;561	ENSP00000386694:M2048I;ENSP00000258390:M2054I	ENSP00000258390:M2054I	M	-	3	0	DOCK10	225346160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.652000	0.90054	0.655000	0.94253	ATG	DOCK10	-	pfam_DOCK_C,superfamily_ARM-type_fold		0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225637916	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	225637916	C	G	225637916	3	3	6	1	0	0	0	0	1	0	0	0	4695	826	29	1	414	1	DOCK10	2	225637916	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	46024975	225637916	17561457	19	443										
GPC1	2817	genome.wustl.edu	37	chr2	241405038	241405038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggctgcgcagcgcctacaacGgcaacgacgtggacttccag	13	14	0	0	rs151028466		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:241405038G>T	ENST00000264039.2	+	8	1665	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	473					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGCCTACAACGGCAACGACGT	0.667																																																	0													62	55	58					2																	241405038		2202	4300	6502	SO:0001583	missense	2817			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1417G>T	2.37:g.241405038G>T	ENSP00000264039:p.Gly473Cys		B3KTD1|Q53QM4	Missense_Mutation	SNP	pfam_Glypican	p.G473C	ENST00000264039.2	37	c.1417	CCDS2534.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112604|3.112604	0.56398|0.56398	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000264039|ENST00000420138;ENST00000455111	D|.	0.81996|.	-1.56|.	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.81039|0.81039	0.4740|0.4740	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85723|0.85723	0.1326|0.1326	10|5	0.87932|.	D|.	0|.	-4.8299|-4.8299	12.9948|12.9948	0.58640|0.58640	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	473|.	P35052|.	GPC1_HUMAN|.	C|L	473|512;224	ENSP00000264039:G473C|.	ENSP00000264039:G473C|.	G|R	+|+	1|2	0|0	GPC1|GPC1	241053711|241053711	1.000000|1.000000	0.71417|0.71417	0.067000|0.067000	0.19924|0.19924	0.445000|0.445000	0.32107|0.32107	5.296000|5.296000	0.65698|0.65698	1.704000|1.704000	0.51252|0.51252	0.551000|0.551000	0.68910|0.68910	GGC|CGG	GPC1	-	pfam_Glypican		0.667	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	HGNC	protein_coding	OTTHUMT00000257179.3	G	NM_002081		241405038	1	no_errors	ENST00000264039	ensembl	human	known	70_37	missense	SNP	0.999	T	T	241405038	G	T	241405038	3	4	6	1	0	0	0	0	1	0	0	0	6616	1116	39	2	1447	2	GPC1	2	241405038	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	15767122	241405038	1794335	20	444										
GAL3ST2	64090	genome.wustl.edu	37	chr2	242743053	242743053	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtggagcggcgcttccggctGgtgctcatcgccgagcacct	15	14	1	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:242743053G>T	ENST00000192314.6	+	4	800	c.669G>T	c.(667-669)ctG>ctT	p.L223L	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	223	Arg-rich.				biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTTCCGGCTGGTGCTCATCG	0.692																																																	0													17	14	15					2																	242743053		2132	4184	6316	SO:0001819	synonymous_variant	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.669G>T	2.37:g.242743053G>T			Q17RK0|Q57Z52	Silent	SNP	pfam_Gal-3-0_sulfotransfrase	p.L223	ENST00000192314.6	37	c.669	CCDS33427.1	2																																																																																			GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase		0.692	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	G	NM_022134		242743053	1	no_errors	ENST00000192314	ensembl	human	known	70_37	silent	SNP	0.994	T	T	242743053	G	T	242743053	2	4	6	1	0	0	0	0	0	0	0	1	6217	1335	47	4		4	GAL3ST2	2	242743053	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	1338015	242743053	456320	21	445										
ARL8B	55207	genome.wustl.edu	37	chr3	5164213	5164213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctcttctggaaggaagagatGgagctgacgctcgtggggct	16	8	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:5164213G>T	ENST00000256496.3	+	1	309	c.63G>T	c.(61-63)atG>atT	p.M21I	ARL8B_ENST00000419534.2_Missense_Mutation_p.M21I	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	21					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AGGAAGAGATGGAGCTGACGC	0.667																																																	0													37	34	35					3																	5164213		2203	4300	6503	SO:0001583	missense	55207			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25564	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10C"	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.63G>T	3.37:g.5164213G>T	ENSP00000256496:p.Met21Ile		B4DI85	Nonsense_Mutation	SNP	NULL	p.G79*	ENST00000256496.3	37	c.235	CCDS2566.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.843401	0.97881	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.81163	-1.46;-1.46	3.88	3.88	0.44766	Small GTP-binding protein domain (1);	0.038726	0.85682	D	0.000000	D	0.87771	0.6261	M	0.66378	2.025	0.80722	D	1	D;B;P	0.63046	0.992;0.306;0.854	D;B;P	0.67725	0.953;0.249;0.815	D	0.89747	0.3937	10	0.87932	D	0	-17.045	16.3086	0.82859	0.0:0.0:1.0:0.0	.	21;21;21	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	I	21;73;21	ENSP00000256496:M21I;ENSP00000402996:M21I	ENSP00000256496:M21I	M	+	3	0	ARL8B	5139213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.506000	0.73712	2.108000	0.64289	0.491000	0.48974	ATG	ARL8B	-	NULL		0.667	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL8B	HGNC	protein_coding	OTTHUMT00000206910.2	G	NM_018184		5164213	1	no_errors	ENST00000455168	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	5164213	G	T	5164213	3	4	6	1	0	0	0	0	1	0	0	0	948	1348	47	4	65	4	ARL8B	3	5164213	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		5164213	192858217	22	446										
FGD5	152273	genome.wustl.edu	37	chr3	14861478	14861478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agtgaaccacctgaccacgaGaagaaaaccaaccaagaagt	8	11	0	5			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:14861478G>T	ENST00000285046.5	+	1	1010	c.900G>T	c.(898-900)gaG>gaT	p.E300D	FGD5_ENST00000543601.1_Missense_Mutation_p.E59D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	300	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTGACCACGAGAAGAAAACCA	0.567																																																	0													48	55	53					3																	14861478		2061	4210	6271	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.900G>T	3.37:g.14861478G>T	ENSP00000285046:p.Glu300Asp		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E300D	ENST00000285046.5	37	c.900	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000164	0.19121	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77358	-1.09;-0.96	4.83	-9.65	0.00537	.	2.530940	0.01202	N	0.007606	T	0.50769	0.1635	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49771	-0.8904	10	0.14252	T	0.57	6.4918	5.2789	0.15665	0.2848:0.1373:0.4821:0.0958	.	59;300	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	300;59	ENSP00000285046:E300D;ENSP00000445949:E59D	ENSP00000285046:E300D	E	+	3	2	FGD5	14836482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.600000	0.02083	-3.185000	0.00221	-0.467000	0.05162	GAG	FGD5	-	NULL		0.567	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14861478	1	no_errors	ENST00000285046	ensembl	human	known	70_37	missense	SNP	0.000	T	T	14861478	G	T	14861478	3	4	6	1	0	0	0	0	1	0	0	0	5854	933	33	3	902	3	FGD5	3	14861478	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	9697265	14861478	183160952	23	447										
TGM4	7047	genome.wustl.edu	37	chr3	44951664	44951664	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cacagacgacctgtaaaagaGaactttcttcacatgtcggt	8	10	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:44951664G>C	ENST00000296125.4	+	11	1478	c.1410G>C	c.(1408-1410)gaG>gaC	p.E470D		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	470					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTGTAAAAGAGAACTTTCTTC	0.478																																																	0													81	81	81					3																	44951664		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1410G>C	3.37:g.44951664G>C	ENSP00000296125:p.Glu470Asp		Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E470D	ENST00000296125.4	37	c.1410	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111721	0.06881	.	.	ENSG00000163810	ENST00000296125	T	0.81078	-1.45	2.34	-0.00579	0.14016	.	5.830720	0.02508	U	0.091201	T	0.74038	0.3664	L	0.49778	1.585	0.09310	N	1	B	0.26445	0.149	B	0.24269	0.052	T	0.49908	-0.8889	10	0.25751	T	0.34	.	5.5474	0.17071	0.0:0.2213:0.5521:0.2266	.	470	P49221	TGM4_HUMAN	D	470	ENSP00000296125:E470D	ENSP00000296125:E470D	E	+	3	2	TGM4	44926668	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.229000	0.17833	-0.200000	0.10300	-0.518000	0.04402	GAG	TGM4	-	NULL		0.478	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	G	NM_003241		44951664	1	no_errors	ENST00000296125	ensembl	human	known	70_37	missense	SNP	0.001	C	C	44951664	G	C	44951664	3	2	6	1	0	0	0	0	1	0	0	0	15862	933	33	1	1452	1	TGM4	3	44951664	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	30090186	44951664	153070766	24	448										
CLEC3B	7123	genome.wustl.edu	37	chr3	45067904	45067904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctgcctcttctccctcctgaCccaggtcaccaccgagccac	6	21	3	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:45067904C>G	ENST00000296130.4	+	1	230	c.50C>G	c.(49-51)aCc>aGc	p.T17S	CLEC3B_ENST00000490386.1_Intron	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	17					bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	TCCCTCCTGACCCAGGTCACC	0.637																																					GBM(139;1487 3263 30871)												0													51	46	47					3																	45067904		2203	4300	6503	SO:0001583	missense	7123				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	11891	protein-coding gene	gene with protein product		187520	"tetranectin (plasminogen binding protein)"	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.50C>G	3.37:g.45067904C>G	ENSP00000296130:p.Thr17Ser		Q6FGX6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T17S	ENST00000296130.4	37	c.50	CCDS2726.1	3	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751616	0.15778	.	.	ENSG00000163815	ENST00000296130	T	0.06068	3.35	4.38	4.38	0.52667	.	0.923786	0.09176	N	0.838193	T	0.05868	0.0153	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.09084	T	0.74	-16.63	14.1322	0.65263	0.0:1.0:0.0:0.0	.	17	P05452	TETN_HUMAN	S	17	ENSP00000296130:T17S	ENSP00000296130:T17S	T	+	2	0	CLEC3B	45042908	0.990000	0.36364	0.983000	0.44433	0.870000	0.49936	1.374000	0.34283	2.432000	0.82394	0.585000	0.79938	ACC	CLEC3B	-	NULL		0.637	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	C	NM_003278		45067904	1	no_errors	ENST00000296130	ensembl	human	known	70_37	missense	SNP	0.997	G	G	45067904	C	G	45067904	3	3	6	1	0	0	0	0	1	0	0	0	3516	507	18	4	52	4	CLEC3B	3	45067904	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	116240	45067904	152954526	25	449										
CCDC12	151903	genome.wustl.edu	37	chr3	46982549	46982549	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggtctttggctccccatcttCcttgtcctgcaaagaaaggg	10	12	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:46982549C>A	ENST00000546280.1	-	2	150	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	CCDC12_ENST00000292314.2_Nonsense_Mutation_p.E48*|CCDC12_ENST00000425441.1_Nonsense_Mutation_p.E48*|CCDC12_ENST00000605358.1_5'UTR	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	35										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		TCCCCATCTTCCTTGTCCTGC	0.537																																																	0													204	178	187					3																	46982549		2203	4300	6503	SO:0001587	stop_gained	151903			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.103G>T	3.37:g.46982549C>A	ENSP00000441327:p.Glu35*		Q8N8I4	Nonsense_Mutation	SNP	pfam_mRNA_splic_Cwf18	p.E48*	ENST00000546280.1	37	c.142		3	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893027	0.72524	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	3.8	1.87	0.25490	.	0.493494	0.24415	N	0.038729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.0836	9.7965	0.40737	0.0:0.5884:0.4116:0.0	.	.	.	.	X	48;48;35;48	.	ENSP00000292314:E48X	E	-	1	0	CCDC12	46957553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.137000	0.31479	0.512000	0.28257	0.555000	0.69702	GAA	CCDC12	-	pfam_mRNA_splic_Cwf18		0.537	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	CCDC12	HGNC	protein_coding		C	NM_144716		46982549	-1	no_errors	ENST00000292314	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46982549	C	A	46982549	4	1	6	1	0	0	0	0	0	1	0	0	2760	864	30	3	421	3	CCDC12	3	46982549	Nonsense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	1914645	46982549	151039881	26	450										
LAMB2	3913	genome.wustl.edu	37	chr3	49160390	49160390	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gccgctgccccattgcagctGaggcccccacagcgcggctg	13	18	0	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:49160390G>C	ENST00000418109.1	-	28	4484	c.4320C>G	c.(4318-4320)ctC>ctG	p.L1440L	USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Silent_p.L1440L|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1440	Domain alpha.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATTGCAGCTGAGGCCCCCAC	0.682																																																	0													26	27	27					3																	49160390		2203	4299	6502	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4320C>G	3.37:g.49160390G>C			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1440	ENST00000418109.1	37	c.4320	CCDS2789.1	3																																																																																			LAMB2	-	NULL		0.682	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49160390	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	0.998	C	C	49160390	G	C	49160390	2	2	6	1	0	0	0	0	0	0	0	1	8631	1277	45	1		1	LAMB2	3	49160390	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	2177841	49160390	148862040	27	451										
LAMB2	3913	genome.wustl.edu	37	chr3	49161416	49161416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggcaggcaggaaagattcctGagaagccacgggcacactgg	15	10	0	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:49161416G>A	ENST00000418109.1	-	25	3706	c.3542C>T	c.(3541-3543)tCa>tTa	p.S1181L	LAMB2_ENST00000305544.4_Missense_Mutation_p.S1181L|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1181	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAAGATTCCTGAGAAGCCACG	0.617																																																	0													51	47	48					3																	49161416		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3542C>T	3.37:g.49161416G>A	ENSP00000388325:p.Ser1181Leu		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S1181L	ENST00000418109.1	37	c.3542	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823052	0.90873	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.34072	1.38;1.38	5.84	5.84	0.93424	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.22521	-1.0214	10	0.11485	T	0.65	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1181	P55268	LAMB2_HUMAN	L	1181	ENSP00000388325:S1181L;ENSP00000307156:S1181L	ENSP00000307156:S1181L	S	-	2	0	LAMB2	49136420	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	4.820000	0.62671	2.768000	0.95171	0.561000	0.74099	TCA	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49161416	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49161416	G	A	49161416	3	1	6	1	0	0	0	0	1	0	0	0	8631	1294	45	1	1890	1	LAMB2	3	49161416	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	1026	49161416	148861014	28	452										
VPS8	23355	genome.wustl.edu	37	chr3	184769794	184769794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccagctgcagctcattcctcCacctgtgactgaggattgat	9	13	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:184769794C>A	ENST00000437079.3	+	48	4439	c.4268C>A	c.(4267-4269)cCa>cAa	p.P1423Q	VPS8_ENST00000287546.4_Missense_Mutation_p.P1423Q|VPS8_ENST00000446204.2_Missense_Mutation_p.P1331Q|VPS8_ENST00000436792.2_Missense_Mutation_p.P1421Q	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1423							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTCATTCCTCCACCTGTGACT	0.587																																																	0													43	45	45					3																	184769794		2002	4187	6189	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.4268C>A	3.37:g.184769794C>A	ENSP00000397879:p.Pro1423Gln		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1423Q	ENST00000437079.3	37	c.4268	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302775	0.81136	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.37411	1.21;1.2;1.2;1.21	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	L	0.34521	1.04	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.963;0.992;0.984	T	0.50118	-0.8865	10	0.87932	D	0	-16.7674	16.9217	0.86166	0.0:1.0:0.0:0.0	.	1423;1331;1421	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Q	1423;1423;1421;1331	ENSP00000287546:P1423Q;ENSP00000397879:P1423Q;ENSP00000404704:P1421Q;ENSP00000405483:P1331Q	ENSP00000287546:P1423Q	P	+	2	0	VPS8	186252488	0.979000	0.34478	0.700000	0.30305	0.947000	0.59692	4.306000	0.59117	2.803000	0.96430	0.585000	0.79938	CCA	VPS8	-	NULL		0.587	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		C	NM_015303		184769794	1	no_errors	ENST00000287546	ensembl	human	known	70_37	missense	SNP	0.959	A	A	184769794	C	A	184769794	3	1	6	1	0	0	0	0	1	0	0	0	17249	594	21	4	4450	4	VPS8	3	184769794	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	135608378	184769794	13252636	29	453										
BCL6	604	genome.wustl.edu	37	chr3	187444680	187444680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	actcattgcagaagaaggccCcgttctctgttggagggtgg	14	9	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:187444680C>T	ENST00000406870.2	-	7	1913	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	BCL6_ENST00000450123.2_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.G516E|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	516					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAAGAAGGCCCCGTTCTCTGT	0.577			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													94	83	87					3																	187444680		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1547G>A	3.37:g.187444680C>T	ENSP00000384371:p.Gly516Glu		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G516E	ENST00000406870.2	37	c.1547	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383530	0.82792	.	.	ENSG00000113916	ENST00000406870;ENST00000232014	T;T	0.10477	2.87;2.87	5.74	5.74	0.90152	.	0.092317	0.85682	D	0.000000	T	0.25344	0.0616	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00205	-1.1922	10	0.44086	T	0.13	.	19.2995	0.94138	0.0:1.0:0.0:0.0	.	516	P41182	BCL6_HUMAN	E	516	ENSP00000384371:G516E;ENSP00000232014:G516E	ENSP00000232014:G516E	G	-	2	0	BCL6	188927374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.754000	0.68743	2.884000	0.98904	0.655000	0.94253	GGG	BCL6	-	NULL		0.577	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	C	NM_138931		187444680	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	missense	SNP	1.000	T	T	187444680	C	T	187444680	3	4	6	1	0	0	0	0	1	0	0	0	1377	623	22	4	589	4	BCL6	3	187444680	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	2674886	187444680	10577750	30	454										
ZNF595	152687	genome.wustl.edu	37	chr4	85996	85997	+	3'UTR	INS	-	-	C													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgctggagagaaaccctacaINSatgtgaaaaatgtggcaaag							TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:85996_85997insC	ENST00000339368.6	+	0	805_806							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAAACCCTACAATGTGAAAAAT	0.406																																																	0										3582,324		1641,300,12						-0.1	0.1		dbSNP_129	12	7311,695		3331,649,23	no	frameshift	ZNF595	NM_182524.2		4972,949,35	A1A1,A1R,RR		8.681,8.2949,8.5544				10893,1019				SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*803->C	4.37:g.85996_85997insC				RNA	INS	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.406	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	-	NM_182524		85997	1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	INS	0.001:0.009	C	C	85997	-	C	85996	6	5	6	0	1	1	1	0	0	0	0	0	18055	130	5	0		0	ZNF595	4	85996	3'UTR	INS	-	TCGA-C5-A1BF-01B-11D-A13W-08		85996	191068280	31	455										
PDS5A	23244	genome.wustl.edu	37	chr4	39850476	39850476	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gaggaagaaaattaccttttCaggttgtgtaaaaaatttca	8	4	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:39850476C>T	ENST00000303538.8	-	28	3873	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATTACCTTTTCAGGTTGTGTA	0.363																																																	0													81	79	79					4																	39850476		1825	4089	5914	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3334G>A	4.37:g.39850476C>T	ENSP00000303427:p.Glu1112Lys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1112K	ENST00000303538.8	37	c.3334	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198626	0.79015	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.47	5.47	0.80525	.	0.047188	0.85682	D	0.000000	T	0.44350	0.1289	N	0.14661	0.345	0.80722	D	1	B	0.25719	0.132	B	0.28916	0.096	T	0.30707	-0.9969	8	.	.	.	-19.2423	19.3219	0.94245	0.0:1.0:0.0:0.0	.	1112	Q29RF7	PDS5A_HUMAN	K	1112	.	.	E	-	1	0	PDS5A	39526871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.538000	0.85594	0.655000	0.94253	GAA	PDS5A	-	NULL		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39850476	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39850476	C	T	39850476	3	4	6	1	0	0	0	0	1	0	0	0	11715	835	29	1	703	1	PDS5A	4	39850476	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	39764480	39850476	151303800	32	456										
CEP135	9662	genome.wustl.edu	37	chr4	56831889	56831889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aaccaaggaaacagtgacatCtgaagtcgttaatttaagta	8	6	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:56831889C>G	ENST00000257287.4	+	8	1032	c.908C>G	c.(907-909)tCt>tGt	p.S303C		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	303					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACAGTGACATCTGAAGTCGTT	0.353																																																	0													64	63	64					4																	56831889		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.908C>G	4.37:g.56831889C>G	ENSP00000257287:p.Ser303Cys		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.S303C	ENST00000257287.4	37	c.908	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028385	0.54790	.	.	ENSG00000174799	ENST00000257287	T	0.49432	0.78	5.67	1.18	0.20946	.	0.429582	0.27901	N	0.017382	T	0.45357	0.1338	L	0.43152	1.355	0.09310	N	0.999992	P	0.49696	0.927	P	0.49276	0.605	T	0.40646	-0.9552	10	0.66056	D	0.02	.	11.1426	0.48411	0.1776:0.238:0.5844:0.0	.	303	Q66GS9	CP135_HUMAN	C	303	ENSP00000257287:S303C	ENSP00000257287:S303C	S	+	2	0	CEP135	56526646	1.000000	0.71417	0.124000	0.21820	0.911000	0.54048	1.039000	0.30266	0.685000	0.31468	0.460000	0.39030	TCT	CEP135	-	NULL		0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56831889	1	no_errors	ENST00000257287	ensembl	human	known	70_37	missense	SNP	0.276	G	G	56831889	C	G	56831889	3	3	6	1	0	0	0	0	1	0	0	0	3252	913	32	1	934	1	CEP135	4	56831889	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	16981413	56831889	134322387	33	457										
PIGY	100996939	genome.wustl.edu	37	chr4	89443102	89443102	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	atcctagctgcctgtggtatCatattagggatcccatcaat	8	10	2	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:89443102C>T	ENST00000273968.4	-	2	394	c.282G>A	c.(280-282)atG>atA	p.M94I	HERC3_ENST00000601319.1_3'UTR|PIGY_ENST00000527353.1_5'Flank	NM_001042616.2|NM_032906.4	NP_001036081.1|NP_116295.1	Q96I23	PREY_HUMAN	PIGY upstream reading frame	94	TRM112.				GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|mitochondrion (GO:0005739)											CCTGTGGTATCATATTAGGGA	0.368																																																	0													182	143	154					4																	89443102		692	1591	2283	SO:0001583	missense	100996939					4q22.1	2012-08-14			ENSG00000145337	ENSG00000145337			44317	protein-coding gene	gene with protein product						16162815	Standard	NM_032906		Approved	PreY	uc003hru.2	Q96I23	OTTHUMG00000130949	ENST00000273968.4:c.282G>A	4.37:g.89443102C>T	ENSP00000273968:p.Met94Ile		B2R571	Missense_Mutation	SNP	pfam_UPF0434/Trm112	p.M94I	ENST00000273968.4	37	c.282	CCDS3631.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.080718	0.94050	.	.	ENSG00000145337	ENST00000273968	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86422	0.5929	M	0.93550	3.43	0.38514	D	0.948547	D	0.76494	0.999	D	0.80764	0.994	D	0.90015	0.4124	8	0.72032	D	0.01	-8.7335	17.7721	0.88495	0.0:1.0:0.0:0.0	.	94	Q96I23	PREY_HUMAN	I	94	.	ENSP00000273968:M94I	M	-	3	0	PIGY	89662125	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.870000	0.75526	2.519000	0.84933	0.655000	0.94253	ATG	PYURF	-	NULL		0.368	PYURF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYURF	HGNC	protein_coding	OTTHUMT00000253550.1	C	NM_032906.4		89443102	-1	no_errors	ENST00000273968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89443102	C	T	89443102	3	4	6	1	0	0	0	0	1	0	0	0	11928	826	29	1	286	1	PIGY	4	89443102	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	32611213	89443102	101711174	34	458										
OTUD4	54726	genome.wustl.edu	37	chr4	146059410	146059410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggattgggtccaaaagatggCtgggggaacatattcttgcc	14	7	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:146059410C>T	ENST00000447906.2	-	21	2704	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q	OTUD4_ENST00000454497.2_Silent_p.Q774Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	839					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CAAAAGATGGCTGGGGGAACA	0.458																																																	0													72	68	69					4																	146059410		2203	4300	6503	SO:0001819	synonymous_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2517G>A	4.37:g.146059410C>T			B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	pfam_OTU,pfscan_OTU	p.Q839	ENST00000447906.2	37	c.2517		4																																																																																			OTUD4	-	NULL		0.458	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	C	NM_017493		146059410	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	silent	SNP	0.112	T	T	146059410	C	T	146059410	2	4	6	1	0	0	0	0	0	0	0	1	11338	796	28	4		4	OTUD4	4	146059410	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	56616308	146059410	45094866	35	459										
GALNTL6	442117	genome.wustl.edu	37	chr4	172735776	172735776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctgcagatgactttgttgttCacggtggctttaattttcct	9	8	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:172735776C>G	ENST00000506823.1	+	2	702	c.45C>G	c.(43-45)ttC>ttG	p.F15L	GALNTL6_ENST00000511251.1_Missense_Mutation_p.F15L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	15					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTTTGTTGTTCACGGTGGCTT	0.473																																																	0													128	129	128					4																	172735776		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.45C>G	4.37:g.172735776C>G	ENSP00000423313:p.Phe15Leu		Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F15L	ENST00000506823.1	37	c.45	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232687	0.22626	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.53206	0.63	5.7	3.66	0.41972	.	0.407010	0.18987	N	0.125713	T	0.27629	0.0679	N	0.11927	0.2	0.36440	D	0.865426	B	0.02656	0.0	B	0.01281	0.0	T	0.16305	-1.0407	10	0.13108	T	0.6	.	12.8064	0.57616	0.0:0.8446:0.0:0.1554	.	15	Q49A17	GLTL6_HUMAN	L	15	ENSP00000423313:F15L	ENSP00000385382:F15L	F	+	3	2	GALNTL6	172972351	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.367000	0.52350	1.409000	0.46915	0.563000	0.77884	TTC	GALNTL6	-	NULL		0.473	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	C	NM_001034845		172735776	1	no_errors	ENST00000506823	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172735776	C	G	172735776	3	3	6	1	0	0	0	0	1	0	0	0	6244	825	29	1	47	1	GALNTL6	4	172735776	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	26676366	172735776	18418500	36	460										
GLRA3	8001	genome.wustl.edu	37	chr4	175564951	175564951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agagacttaatcttgctgctGatgaatatcctcatgcctaa	7	9	2	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:175564951G>C	ENST00000274093.3	-	10	1883	c.1381C>G	c.(1381-1383)Cag>Gag	p.Q461E	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q446E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	461					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCTTGCTGCTGATGAATATCC	0.398																																																	0													101	109	106					4																	175564951		2203	4300	6503	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1381C>G	4.37:g.175564951G>C	ENSP00000274093:p.Gln461Glu		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.Q461E	ENST00000274093.3	37	c.1381	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066242	0.55539	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.67523	-0.15;-0.27	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.098521	0.64402	D	0.000001	T	0.65291	0.2677	L	0.42245	1.32	0.46981	D	0.999273	B;B	0.16396	0.012;0.017	B;B	0.25506	0.061;0.028	T	0.60652	-0.7221	10	0.66056	D	0.02	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	446;461	O75311-2;O75311	.;GLRA3_HUMAN	E	461;446	ENSP00000274093:Q461E;ENSP00000345284:Q446E	ENSP00000274093:Q461E	Q	-	1	0	GLRA3	175801526	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.274000	0.51631	2.779000	0.95612	0.591000	0.81541	CAG	GLRA3	-	superfamily_Neurotrans-gated_channel_TM		0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	G			175564951	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	1.000	C	C	175564951	G	C	175564951	3	2	6	1	0	0	0	0	1	0	0	0	6475	1299	45	1	17	1	GLRA3	4	175564951	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	2829175	175564951	15589325	37	461										
ODZ3	55714	genome.wustl.edu	37	chr4	183720851	183720851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gccggcgccgggccggcggcGcgcagtcctggctgtggttc	19	15	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:183720851G>A	ENST00000511685.1	+	28	7570	c.7447G>A	c.(7447-7449)Gcg>Acg	p.A2483T	TENM3_ENST00000406950.2_Missense_Mutation_p.A2483T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2483					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ggccggcggcgcgcAGTCCTG	0.687																																																	0																																										SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7447G>A	4.37:g.183720851G>A	ENSP00000424226:p.Ala2483Thr		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2483T	ENST00000511685.1	37	c.7447	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147010	0.37923	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	4.79	4.79	0.61399	.	.	.	.	.	T	0.73133	0.3548	N	0.08118	0	0.28510	N	0.913607	B	0.21147	0.052	B	0.14023	0.01	T	0.57039	-0.7879	9	0.19147	T	0.46	.	18.3845	0.90462	0.0:0.0:1.0:0.0	.	2483	Q9P273	TEN3_HUMAN	T	2483	ENSP00000424226:A2483T;ENSP00000385276:A2483T	ENSP00000385276:A2483T	A	+	1	0	ODZ3	183957845	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	6.375000	0.73137	2.644000	0.89710	0.557000	0.71058	GCG	TENM3	-	NULL		0.687	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183720851	1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183720851	G	A	183720851	3	1	6	1	0	0	0	0	1	0	0	0	10860	1087	38	2	7553	2	ODZ3	4	183720851	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	8155900	183720851	7433425	38	462										
FAT1	2195	genome.wustl.edu	37	chr4	187540216	187540217	+	Frame_Shift_Ins	INS	-	-	T													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tcacctccatcaccagggtaINStgtaggggagcgttttcagc							TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:187540216_187540217insT	ENST00000441802.2	-	10	7732_7733	c.7523_7524insA	c.(7522-7524)catfs	p.H2508fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2508	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACCAGGGTATGTAGGGGAGC	0.426										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7524dupA	4.37:g.187540217_187540217dupT	ENSP00000406229:p.His2508fs			Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H2508fs	ENST00000441802.2	37	c.7524_7523	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.426	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	NM_005245		187540217	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_ins	INS	0.226:0.788	T	T	187540217	-	T	187540216	7	5	6	1	0	1	1	0	0	0	0	0	5707	446	16	0	6314	0	FAT1	4	187540216	Frame_Shift_Ins	INS	-	TCGA-C5-A1BF-01B-11D-A13W-08	3819365	187540216	3614060	39	463										
FAT1	2195	genome.wustl.edu	37	chr4	187629360	187629360	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggtacggcaagccccagtctGatgcacgaatcctcagagta	11	12	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:187629360G>C	ENST00000441802.2	-	2	1831	c.1622C>G	c.(1621-1623)tCa>tGa	p.S541*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	541	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCCAGTCTGATGCACGAAT	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													78	75	76					4																	187629360		1934	4126	6060	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1622C>G	4.37:g.187629360G>C	ENSP00000406229:p.Ser541*			Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S541*	ENST00000441802.2	37	c.1622	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.638732	0.96693	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	.	.	.	X	541	.	ENSP00000260147:S541X	S	-	2	0	FAT1	187866354	1.000000	0.71417	0.123000	0.21794	0.240000	0.25518	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	TCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187629360	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	0.999	C	C	187629360	G	C	187629360	4	2	6	1	0	0	0	0	0	1	0	0	5707	1294	45	1	12248	1	FAT1	4	187629360	Nonsense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	89144	187629360	3524916	40	464										
MARCH11	441061	genome.wustl.edu	37	chr5	16067780	16067780	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agtcctacttgtggaagactCtccccggctgctttcttcga	9	13	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:16067780C>G	ENST00000332432.8	-	4	1208	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	337					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GTGGAAGACTCTCCCCGGCTG	0.483																																																	0													93	92	92					5																	16067780		1932	4135	6067	SO:0001583	missense	441061			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1009G>C	5.37:g.16067780C>G	ENSP00000333181:p.Glu337Gln		A7E2S6	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E337Q	ENST00000332432.8	37	c.1009	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143223	0.57044	.	.	ENSG00000183654	ENST00000332432	T	0.18338	2.22	5.43	5.43	0.79202	.	0.000000	0.45126	D	0.000386	T	0.14917	0.0360	L	0.29908	0.895	0.34991	D	0.75502	B	0.26445	0.149	B	0.24394	0.053	T	0.13872	-1.0493	10	0.16896	T	0.51	-22.9922	19.6057	0.95580	0.0:1.0:0.0:0.0	.	337	A6NNE9	MARHB_HUMAN	Q	337	ENSP00000333181:E337Q	ENSP00000333181:E337Q	E	-	1	0	MARCH11	16120780	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.859000	0.55987	2.693000	0.91896	0.650000	0.86243	GAG	MARCH11	-	NULL		0.483	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	HGNC	protein_coding	OTTHUMT00000366096.2	C	NM_001102562		16067780	-1	no_errors	ENST00000332432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16067780	C	G	16067780	3	3	6	1	0	0	0	0	1	0	0	0	9323	922	32	1	203	1	MARCH11	5	16067780	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		16067780	164847480	41	465										
COL4A3BP	10087	genome.wustl.edu	37	chr5	74677813	74677813	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	acagaaaaattacaaactatCcaagtttcagggtcattttc	5	8	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:74677813C>T	ENST00000405807.4	-	15	1999	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*	COL4A3BP_ENST00000261415.7_Nonsense_Mutation_p.W500*|COL4A3BP_ENST00000380494.5_Nonsense_Mutation_p.W654*|COL4A3BP_ENST00000508692.1_5'UTR	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	526	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TACAAACTATCCAAGTTTCAG	0.383																																																	0													75	74	74					5																	74677813		2203	4300	6503	SO:0001587	stop_gained	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1578G>A	5.37:g.74677813C>T	ENSP00000383996:p.Trp526*		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.W654*	ENST00000405807.4	37	c.1962	CCDS4028.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.143815|6.143815	0.97320|0.97320	.|.	.|.	ENSG00000113163|ENSG00000113163	ENST00000508809|ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.050458	.|0.85682	.|D	.|0.000000	T|.	0.50120|.	0.1597|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.02654	.|T	.|1	-8.6675|-8.6675	20.6396|20.6396	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	28|131;526;654;500	.|.	.|ENSP00000261415:W500X	D|W	-|-	1|3	0|0	COL4A3BP|COL4A3BP	74713569|74713569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.766000|7.766000	0.85320|0.85320	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	GAT|TGG	COL4A3BP	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.383	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74677813	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74677813	C	T	74677813	4	4	6	1	0	0	0	0	0	1	0	0	3697	856	30	1	308	1	COL4A3BP	5	74677813	Nonsense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	58610033	74677813	106237447	42	466										
GPR98	84059	genome.wustl.edu	37	chr5	90074397	90074397	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gccgatttgccttttcacatGagcaacttcgagtgtcagaa	9	10	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:90074397G>C	ENST00000405460.2	+	63	12916	c.12820G>C	c.(12820-12822)Gag>Cag	p.E4274Q	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4274	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTTCACATGAGCAACTTCG	0.418																																																	0													49	48	49					5																	90074397		1974	4170	6144	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12820G>C	5.37:g.90074397G>C	ENSP00000384582:p.Glu4274Gln		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4274Q	ENST00000405460.2	37	c.12820	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766871	0.31320	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.31769	1.48	5.69	4.63	0.57726	Na-Ca exchanger/integrin-beta4 (2);	0.610381	0.18338	N	0.144264	T	0.26955	0.0660	L	0.58969	1.84	0.09310	N	0.999996	B	0.18610	0.029	B	0.15870	0.014	T	0.08330	-1.0727	10	0.21540	T	0.41	.	8.4475	0.32852	0.1435:0.1412:0.7154:0.0	.	4274	Q8WXG9	GPR98_HUMAN	Q	4274	ENSP00000384582:E4274Q	ENSP00000296619:E4274Q	E	+	1	0	GPR98	90110153	0.997000	0.39634	0.558000	0.28319	0.409000	0.31022	2.982000	0.49337	2.658000	0.90341	0.655000	0.94253	GAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90074397	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.004	C	C	90074397	G	C	90074397	3	2	6	1	0	0	0	0	1	0	0	0	6741	1291	45	1	13070	1	GPR98	5	90074397	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	15396584	90074397	90840863	43	467										
HSD17B4	3295	genome.wustl.edu	37	chr5	118866973	118866973	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gttgttagggcgggaagcttCagagtacctttgtatttgag	14	5	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:118866973C>T	ENST00000256216.6	+	22	2000	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Nonsense_Mutation_p.Q361*|HSD17B4_ENST00000510025.1_Nonsense_Mutation_p.Q599*|HSD17B4_ENST00000513628.1_Nonsense_Mutation_p.Q486*|HSD17B4_ENST00000414835.2_Nonsense_Mutation_p.Q483*|HSD17B4_ENST00000504811.1_Nonsense_Mutation_p.Q648*|HSD17B4_ENST00000515320.1_Nonsense_Mutation_p.Q605*	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	623					alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CGGGAAGCTTCAGAGTACCTT	0.363																																					Colon(35;490 801 34689 41394 43344)												0													89	89	89					5																	118866973		2202	4300	6502	SO:0001587	stop_gained	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1867C>T	5.37:g.118866973C>T	ENSP00000256216:p.Gln623*		B4DNV1|B4DVS5|E9PB82|F5HE57	Nonsense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.Q623*	ENST00000256216.6	37	c.1867	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.911123	0.99000	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-12.9224	18.1517	0.89676	0.0:1.0:0.0:0.0	.	.	.	.	X	623;605;599;648;483;486;361	.	ENSP00000256216:Q623X	Q	+	1	0	HSD17B4	118894872	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	5.074000	0.64401	2.582000	0.87167	0.650000	0.86243	CAG	HSD17B4	-	superfamily_SCP2_sterol-bd_dom		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118866973	1	no_errors	ENST00000256216	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	118866973	C	T	118866973	4	4	6	1	0	0	0	0	0	1	0	0	7406	827	29	1	1953	1	HSD17B4	5	118866973	Nonsense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	28792576	118866973	62048287	44	468										
PCDHA9	9752	genome.wustl.edu	37	chr5	140228212	140228212	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gaagccgaacacggcaccttCgtgggccgcatcgcgcagga	14	14	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:140228212C>T	ENST00000532602.1	+	1	1165	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.F44F|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.657																																					Melanoma(55;1800 1972 14909)												0													54	58	57					5																	140228212		2197	4263	6460	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.132C>T	5.37:g.140228212C>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F44	ENST00000532602.1	37	c.132	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140228212	1	no_errors	ENST00000532602	ensembl	human	known	70_37	silent	SNP	0.897	T	T	140228212	C	T	140228212	2	4	6	1	0	0	0	0	0	0	0	1	11555	883	31	1		1	PCDHA9	5	140228212	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	21361239	140228212	40687048	45	469										
SERPINB6	5269	genome.wustl.edu	37	chr6	2955781	2955781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gaggaaatcacaagacttttCcccaaagagcctgttggcca	9	11	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:2955781C>T	ENST00000380520.1	-	2	2283	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	SERPINB6_ENST00000380546.3_Missense_Mutation_p.E97K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E97K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E97K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.E97K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E97K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	97					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAAGACTTTTCCCCAAAGAGC	0.517																																																	0													85	83	83					6																	2955781		2203	4300	6503	SO:0001583	missense	5269			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.289G>A	6.37:g.2955781C>T	ENSP00000369891:p.Glu97Lys		B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E97K	ENST00000380520.1	37	c.289	CCDS4479.1	6	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813646	0.90790	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.97	4.97	0.65823	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.68593	2.085	0.51012	D	0.999909	D	0.89917	1.0	D	0.91635	0.999	D	0.89507	0.3768	10	0.87932	D	0	.	16.5227	0.84321	0.0:1.0:0.0:0.0	.	97	P35237	SPB6_HUMAN	K	97	ENSP00000369896:E97K;ENSP00000369891:E97K;ENSP00000338358:E97K;ENSP00000369901:E97K;ENSP00000369912:E97K;ENSP00000369919:E97K	ENSP00000338358:E97K	E	-	1	0	SERPINB6	2900780	0.996000	0.38824	0.360000	0.25837	0.967000	0.64934	3.314000	0.51943	2.672000	0.90937	0.561000	0.74099	GAA	SERPINB6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB6	HGNC	protein_coding	OTTHUMT00000043422.1	C			2955781	-1	no_errors	ENST00000335686	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2955781	C	T	2955781	3	4	6	1	0	0	0	0	1	0	0	0	14135	864	30	1	861	1	SERPINB6	6	2955781	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		2955781	168159286	46	470										
HLA-A	3105	genome.wustl.edu	37	chr6	29910797	29910797	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gcggctactacaaccagagcGaggccggtgagtgaccccgg	15	13	0	3	rs41559912		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:29910797G>T	ENST00000396634.1	+	4	678	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	113	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAACCAGAGCGAGGCCGGTGA	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													40	43	42					6																	29910797		2200	4292	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.337G>T	6.37:g.29910797G>T	ENSP00000379873:p.Glu113*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E113*	ENST00000396634.1	37	c.337	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.433768	0.96150	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.375	0.32438	0.0:0.2432:0.7568:0.0	.	.	.	.	X	113	.	ENSP00000348012:E113X	E	+	1	0	HLA-A	30018776	0.032000	0.19561	0.853000	0.33588	0.049000	0.14656	0.398000	0.20899	2.030000	0.59900	0.478000	0.44815	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910797	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.722	T	T	29910797	G	T	29910797	4	4	6	1	0	0	0	0	0	1	0	0	7215	1059	37	3	343	3	HLA-A	6	29910797	Nonsense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	26955016	29910797	141204270	47	471										
DST	667	genome.wustl.edu	37	chr6	56458919	56458919	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gagatactgaccctgtttctCaagcaacacttgtgcagact	8	11	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:56458919C>G	ENST00000361203.3	-	44	11642	c.11635G>C	c.(11635-11637)Gag>Cag	p.E3879Q	DST_ENST00000370788.2_Missense_Mutation_p.E1793Q|DST_ENST00000370754.5_Missense_Mutation_p.E4059Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000312431.6_Missense_Mutation_p.E3879Q|DST_ENST00000421834.2_Missense_Mutation_p.E1793Q			Q03001	DYST_HUMAN	dystonin	3879					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTGTTTCTCAAGCAACACT	0.423																																																	0													149	137	141					6																	56458919		1951	4150	6101	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11635G>C	6.37:g.56458919C>G	ENSP00000354508:p.Glu3879Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E4059Q	ENST00000361203.3	37	c.12175		6	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155825	0.57259	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.82619	1.34;1.34;1.34;1.34;1.34;-1.63;1.34;1.34	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000036	D	0.85809	0.5783	M	0.63428	1.95	0.26527	N	0.974326	P;D;P;P;P	0.53312	0.813;0.959;0.933;0.487;0.904	B;P;P;B;P	0.61003	0.398;0.756;0.882;0.193;0.733	T	0.80828	-0.1208	9	0.17832	T	0.49	.	19.8703	0.96847	0.0:1.0:0.0:0.0	.	1793;3881;4059;3879;1467	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1467;4059;3881;1793;3555;3879;1793;3879	ENSP00000244364:E1467Q;ENSP00000359790:E4059Q;ENSP00000359805:E3881Q;ENSP00000400883:E1793Q;ENSP00000393645:E3555Q;ENSP00000307959:E3879Q;ENSP00000359824:E1793Q;ENSP00000354508:E3879Q	ENSP00000244364:E1467Q	E	-	1	0	DST	56566878	1.000000	0.71417	0.968000	0.41197	0.430000	0.31655	7.416000	0.80143	2.770000	0.95276	0.650000	0.86243	GAG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56458919	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56458919	C	G	56458919	3	3	6	1	0	0	0	0	1	0	0	0	4793	835	29	1	11340	1	DST	6	56458919	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	26548122	56458919	114656148	48	472										
CGA	1081	genome.wustl.edu	37	chr6	87795485	87795485	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtaaaacatttaagatttgtGataataacaagtactgcagt	7	4	0	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:87795485G>C	ENST00000369582.2	-	4	440	c.340C>G	c.(340-342)Cac>Gac	p.H114D	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	114					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.H114N(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TAAGATTTGTGATAATAACAA	0.368																																																	1	Substitution - Missense(1)	lung(1)											81	77	78					6																	87795485		2203	4300	6503	SO:0001583	missense	1081			V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"Endogenous ligands"	1885	protein-coding gene	gene with protein product	"follicle-stimulating hormone alpha subunit", "chorionic gonadotropin, alpha polypeptide", "luteinizing hormone alpha chain", "lutropin alpha chain", "thyroid-stimulating hormone alpha chain", "glycoprotein hormones alpha chain"	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.340C>G	6.37:g.87795485G>C	ENSP00000358595:p.His114Asp			Missense_Mutation	SNP	pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone	p.H114D	ENST00000369582.2	37	c.340	CCDS5007.1	6	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558310	0.65538	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78089	-0.2340	9	0.87932	D	0	-0.9765	19.9155	0.97058	0.0:0.0:1.0:0.0	.	114	P01215	GLHA_HUMAN	D	114	.	ENSP00000358595:H114D	H	-	1	0	CGA	87852204	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.097000	0.94193	2.699000	0.92147	0.650000	0.86243	CAC	CGA	-	pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone		0.368	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGA	HGNC	protein_coding	OTTHUMT00000041425.1	G	NM_000735		87795485	-1	no_errors	ENST00000369582	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87795485	G	C	87795485	3	2	6	1	0	0	0	0	1	0	0	0	3300	1290	45	1	14	1	CGA	6	87795485	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	31336566	87795485	83319582	49	473										
CREB5	9586	genome.wustl.edu	37	chr7	28843972	28843972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agcaccagacactgccacccCatcacccttacccacaccag	4	21	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:28843972C>A	ENST00000357727.2	+	8	1249	c.859C>A	c.(859-861)Cat>Aat	p.H287N	CREB5_ENST00000396299.2_Missense_Mutation_p.H254N|CREB5_ENST00000396298.2_Missense_Mutation_p.H148N|CREB5_ENST00000396300.2_Missense_Mutation_p.H280N|CREB5_ENST00000409603.1_Missense_Mutation_p.H254N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	287					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						actgccaccccatcaccctta	0.602																																																	0													603	357	440					7																	28843972		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.859C>A	7.37:g.28843972C>A	ENSP00000350359:p.His287Asn		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.H287N	ENST00000357727.2	37	c.859	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073055	0.55646	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.64085	-0.05;-0.07;-0.05;-0.05;-0.08	5.48	5.48	0.80851	.	0.058374	0.64402	D	0.000003	T	0.47857	0.1468	N	0.19112	0.55	0.51233	D	0.999915	B;B	0.33266	0.404;0.396	B;B	0.26202	0.067;0.067	T	0.42849	-0.9427	10	0.29301	T	0.29	-13.3514	19.4108	0.94671	0.0:1.0:0.0:0.0	.	148;287	B4DU13;Q02930	.;CREB5_HUMAN	N	254;287;280;254;113;148	ENSP00000379593:H254N;ENSP00000350359:H287N;ENSP00000379594:H280N;ENSP00000387197:H254N;ENSP00000379592:H148N	ENSP00000350359:H287N	H	+	1	0	CREB5	28810497	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.458000	0.80787	2.611000	0.88343	0.478000	0.44815	CAT	CREB5	-	pirsf_TF_cAMP-dep		0.602	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28843972	1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28843972	C	A	28843972	3	1	6	1	0	0	0	0	1	0	0	0	3865	594	21	4	940	4	CREB5	7	28843972	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		28843972	130294691	50	474										
GLI3	2737	genome.wustl.edu	37	chr7	42004984	42004984	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccggggctgttgtggagcatCaagtgctctgggccaccgta	15	11	2	0	rs200382337		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:42004984C>G	ENST00000395925.3	-	15	3771	c.3687G>C	c.(3685-3687)ttG>ttC	p.L1229F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1229					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTGGAGCATCAAGTGCTCTG	0.627									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													66	74	71					7																	42004984		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3687G>C	7.37:g.42004984C>G	ENSP00000379258:p.Leu1229Phe		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1229F	ENST00000395925.3	37	c.3687	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059414	0.19987	.	.	ENSG00000106571	ENST00000395925	T	0.15017	2.46	5.7	2.83	0.33086	.	0.522456	0.19078	N	0.123322	T	0.09818	0.0241	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.16335	-1.0406	10	0.14656	T	0.56	.	8.506	0.33188	0.1273:0.7381:0.0:0.1346	.	1229	P10071	GLI3_HUMAN	F	1229	ENSP00000379258:L1229F	ENSP00000379258:L1229F	L	-	3	2	GLI3	41971509	0.002000	0.14202	0.793000	0.32043	0.278000	0.26855	0.455000	0.21843	0.710000	0.31997	0.655000	0.94253	TTG	GLI3	-	NULL		0.627	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42004984	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.923	G	G	42004984	C	G	42004984	3	3	6	1	0	0	0	0	1	0	0	0	6458	825	29	1	1059	1	GLI3	7	42004984	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	13161012	42004984	117133679	51	475										
CBLL1	79872	genome.wustl.edu	37	chr7	107393876	107393876	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aaggatttgattataatgaaGaagaacggtatgactgtaaa	10	2	0	5			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:107393876G>C	ENST00000440859.3	+	3	669	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	CBLL1_ENST00000415884.2_Missense_Mutation_p.E68Q|CBLL1_ENST00000222597.2_Missense_Mutation_p.E67Q	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	68					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTATAATGAAGAAGAACGGTA	0.333																																																	0													60	67	65					7																	107393876		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.202G>C	7.37:g.107393876G>C	ENSP00000401277:p.Glu68Gln		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	pfscan_Znf_RING	p.E68Q	ENST00000440859.3	37	c.202	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550772	0.86127	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.42900	1.03;0.96;1.09	5.67	4.79	0.61399	.	0.114760	0.64402	D	0.000019	T	0.50939	0.1645	L	0.58101	1.795	0.53005	D	0.999969	P;P	0.48162	0.906;0.728	P;B	0.51701	0.677;0.294	T	0.48352	-0.9043	10	0.35671	T	0.21	-2.3813	14.6237	0.68605	0.07:0.0:0.93:0.0	.	67;68	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	68;67;18;18;14	ENSP00000401277:E68Q;ENSP00000222597:E67Q;ENSP00000410615:E18Q	ENSP00000222597:E67Q	E	+	1	0	CBLL1	107181112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.235000	0.78143	1.403000	0.46800	0.563000	0.77884	GAA	CBLL1	-	NULL		0.333	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	G	NM_024814		107393876	1	no_errors	ENST00000440859	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107393876	G	C	107393876	3	2	6	1	0	0	0	0	1	0	0	0	2708	943	33	1	212	1	CBLL1	7	107393876	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	65388892	107393876	51744787	52	476										
CLCN1	1180	genome.wustl.edu	37	chr7	143039071	143039071	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cacacagtctccacagctgtGatttgcttcgaattaacggg	9	11	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:143039071G>T	ENST00000343257.2	+	15	1719	c.1632G>T	c.(1630-1632)gtG>gtT	p.V544V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	544					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCACAGCTGTGATTTGCTTCG	0.537																																																	0													186	136	153					7																	143039071		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1632G>T	7.37:g.143039071G>T			A4D2H5|Q2M202	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.V544	ENST00000343257.2	37	c.1632	CCDS5881.1	7																																																																																			CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.537	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	G	NM_000083		143039071	1	no_errors	ENST00000343257	ensembl	human	known	70_37	silent	SNP	1.000	T	T	143039071	G	T	143039071	2	4	6	1	0	0	0	0	0	0	0	1	3467	1277	45	3		3	CLCN1	7	143039071	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	35645195	143039071	16099592	53	477										
OR6B1	135946	genome.wustl.edu	37	chr7	143701486	143701486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tctgtcgcccactccactacCcaaccataatgagccatggg	7	16	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:143701486C>A	ENST00000408922.2	+	1	465	c.397C>A	c.(397-399)Cca>Aca	p.P133T		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACTCCACTACCCAACCATAAT	0.547																																																	0													87	91	90					7																	143701486		2155	4285	6440	SO:0001583	missense	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.397C>A	7.37:g.143701486C>A	ENSP00000386151:p.Pro133Thr		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P133T	ENST00000408922.2	37	c.397	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089565	0.20390	.	.	ENSG00000221813	ENST00000408922	T	0.02301	4.35	5.26	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.216774	0.23103	U	0.051893	T	0.01730	0.0055	N	0.24115	0.695	0.24878	N	0.992241	B	0.12013	0.005	B	0.20184	0.028	T	0.47560	-0.9108	10	0.18276	T	0.48	.	6.0236	0.19642	0.1828:0.7191:0.0:0.0981	.	133	O95007	OR6B1_HUMAN	T	133	ENSP00000386151:P133T	ENSP00000386151:P133T	P	+	1	0	OR6B1	143332419	0.000000	0.05858	0.904000	0.35570	0.659000	0.38960	-0.576000	0.05854	1.386000	0.46466	0.655000	0.94253	CCA	OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.547	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	C			143701486	1	no_errors	ENST00000408922	ensembl	human	known	70_37	missense	SNP	0.534	A	A	143701486	C	A	143701486	3	1	6	1	0	0	0	0	1	0	0	0	11211	623	22	4	399	4	OR6B1	7	143701486	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	662415	143701486	15437177	54	478										
TNKS	8658	genome.wustl.edu	37	chr8	9563734	9563734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ataatgcatgttcatatggaCattatgaagtcacagaactg	8	6	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:9563734C>T	ENST00000310430.6	+	7	1266	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000518281.1_Missense_Mutation_p.H177Y|TNKS_ENST00000520408.1_Missense_Mutation_p.H414Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	414					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTCATATGGACATTATGAAGT	0.303																																																	0													80	80	80					8																	9563734		2202	4297	6499	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1240C>T	8.37:g.9563734C>T	ENSP00000311579:p.His414Tyr		O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.H414Y	ENST00000310430.6	37	c.1240	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726867	0.89390	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.85130	0.994;0.997	T	0.77606	-0.2525	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	414;414	E7EWY6;O95271	.;TNKS1_HUMAN	Y	414;414;177	ENSP00000428299:H414Y;ENSP00000311579:H414Y;ENSP00000429890:H177Y	ENSP00000311579:H414Y	H	+	1	0	TNKS	9601144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.303	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9563734	1	no_errors	ENST00000310430	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9563734	C	T	9563734	3	4	6	1	0	0	0	0	1	0	0	0	16349	478	17	4	1266	4	TNKS	8	9563734	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		9563734	136800288	55	479										
TRPA1	8989	genome.wustl.edu	37	chr8	72936146	72936146	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aaataaaaaacagaatatatGctgtcggataaaaaatagta	6	3	0	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:72936146G>A	ENST00000262209.4	-	26	3259	c.3052C>T	c.(3052-3054)Cat>Tat	p.H1018Y	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1018			H -> R (in dbSNP:rs959976).		calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATATATGCTGTCGGATA	0.313																																																	0													57	65	62					8																	72936146		2198	4289	6487	SO:0001630	splice_region_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3052-1C>T	8.37:g.72936146G>A			A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H1018Y	ENST00000262209.4	37	c.3052	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156510	0.01686	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.42131	0.98;1.1	5.93	-5.75	0.02384	.	0.996761	0.08138	N	0.992056	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	B	0.29232	0.238	B	0.25614	0.062	T	0.29852	-0.9998	10	0.02654	T	1	0.2363	1.7636	0.02997	0.4208:0.2739:0.1173:0.188	.	1018	O75762	TRPA1_HUMAN	Y	870;1018	ENSP00000428151:H870Y;ENSP00000262209:H1018Y	ENSP00000262209:H1018Y	H	-	1	0	TRPA1	73098700	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-0.140000	0.10342	-0.842000	0.04195	-0.169000	0.13324	CAT	TRPA1	-	NULL		0.313	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	G	NM_007332	Missense_Mutation	72936146	-1	no_errors	ENST00000262209	ensembl	human	known	70_37	missense	SNP	0.000	A	A	72936146	G	A	72936146	5	1	6	1	0	0	0	0	0	0	1	0	16608	1333	46	4	315	4	TRPA1	8	72936146	Splice_Site	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	63372412	72936146	73427876	56	480										
SLURP1	57152	genome.wustl.edu	37	chr8	143823321	143823321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtcatgggctccttgcaggtGtagcacttgagggcctcacc	13	12	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:143823321G>A	ENST00000246515.1	-	2	103	c.78C>T	c.(76-78)taC>taT	p.Y26Y		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	26	UPAR/Ly6.				cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCTTGCAGGTGTAGCACTTGA	0.627																																																	0													88	84	85					8																	143823321		2202	4300	6502	SO:0001819	synonymous_variant	57152			AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"lymphocyte antigen 6-like secreted", "ARS component B"	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.78C>T	8.37:g.143823321G>A			Q53YJ6|Q6PUA6|Q92483	Silent	SNP	pfam_LY6_UPAR	p.Y26	ENST00000246515.1	37	c.78	CCDS6387.1	8																																																																																			SLURP1	-	pfam_LY6_UPAR		0.627	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLURP1	HGNC	protein_coding	OTTHUMT00000379741.1	G	NM_020427		143823321	-1	no_errors	ENST00000246515	ensembl	human	known	70_37	silent	SNP	0.724	A	A	143823321	G	A	143823321	2	1	6	1	0	0	0	0	0	0	0	1	14786	1372	48	4		4	SLURP1	8	143823321	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	70887175	143823321	2540701	57	481										
TJP2	9414	genome.wustl.edu	37	chr9	71851009	71851009	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	taagaagccactttgaatgtGagaaggaaactccacagagc	10	8	0	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:71851009G>C	ENST00000377245.4	+	13	2054	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	TJP2_ENST00000453658.2_Missense_Mutation_p.E593Q|TJP2_ENST00000265384.7_Missense_Mutation_p.E616Q|TJP2_ENST00000348208.4_Missense_Mutation_p.E616Q|TJP2_ENST00000539225.1_Missense_Mutation_p.E647Q|TJP2_ENST00000535702.1_Missense_Mutation_p.E620Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	616	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTTTGAATGTGAGAAGGAAAC	0.498																																																	0													96	91	93					9																	71851009		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1846G>C	9.37:g.71851009G>C	ENSP00000366453:p.Glu616Gln		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.E647Q	ENST00000377245.4	37	c.1939	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.137641	0.94517	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	5.43	5.43	0.79202	Src homology-3 domain (3);Variant SH3 (1);	0.053759	0.64402	D	0.000001	T	0.27866	0.0686	L	0.58354	1.805	0.80722	D	1	D;D;P;D;D	0.71674	0.961;0.995;0.928;0.998;0.996	P;D;P;D;D	0.74023	0.756;0.972;0.714;0.982;0.917	T	0.00271	-1.1859	10	0.87932	D	0	.	19.589	0.95499	0.0:0.0:1.0:0.0	.	647;620;616;616;616	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	Q	593;616;616;616;620;647	ENSP00000392178:E593Q;ENSP00000366453:E616Q;ENSP00000345893:E616Q;ENSP00000265384:E616Q;ENSP00000442090:E620Q;ENSP00000438262:E647Q	ENSP00000265384:E616Q	E	+	1	0	TJP2	71040829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.678000	0.98647	2.709000	0.92574	0.491000	0.48974	GAG	TJP2	-	pfam_SH3_2,superfamily_SH3_domain,pfscan_SH3_domain		0.498	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71851009	1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71851009	G	C	71851009	3	2	6	1	0	0	0	0	1	0	0	0	15960	1291	45	1	2053	1	TJP2	9	71851009	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		71851009	69362422	58	482										
ABCA1	19	genome.wustl.edu	37	chr9	107550317	107550317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cttcacgaggcccagtttccGaatcgcccactcaccaacct	6	18	2	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:107550317G>A	ENST00000374736.3	-	46	6482	c.6088C>T	c.(6088-6090)Cgg>Tgg	p.R2030W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2030	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCAGTTTCCGAATCGCCCAC	0.468																																																	0													158	143	148					9																	107550317		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6088C>T	9.37:g.107550317G>A	ENSP00000363868:p.Arg2030Trp		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2030W	ENST00000374736.3	37	c.6088	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527709	0.85706	.	.	ENSG00000165029	ENST00000374736	D	0.94046	-3.34	5.84	4.94	0.65067	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.106558	0.64402	N	0.000003	D	0.96027	0.8706	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.96440	0.9326	10	0.72032	D	0.01	.	15.1914	0.73047	0.0676:0.0:0.9324:0.0	.	2030	O95477	ABCA1_HUMAN	W	2030	ENSP00000363868:R2030W	ENSP00000363868:R2030W	R	-	1	2	ABCA1	106590138	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.764000	0.68826	1.612000	0.50221	0.650000	0.86243	CGG	ABCA1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107550317	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107550317	G	A	107550317	3	1	6	1	0	0	0	0	1	0	0	0	28	1057	37	1	717	1	ABCA1	9	107550317	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	35699308	107550317	33663114	59	483										
BAT2L1	84726	genome.wustl.edu	37	chr9	134353258	134353258	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aagcctccagtaaaaaggcaGagaaggaggccaagttggct	13	8	0	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:134353258G>A	ENST00000357304.4	+	16	4589	c.4534G>A	c.(4534-4536)Gag>Aag	p.E1512K	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.E818K|PRRC2B_ENST00000458550.1_Missense_Mutation_p.E818K	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1512							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TAAAAAGGCAGAGAAGGAGGC	0.562																																																	0													64	69	67					9																	134353258		2015	4154	6169	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4534G>A	9.37:g.134353258G>A	ENSP00000349856:p.Glu1512Lys		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E1512K	ENST00000357304.4	37	c.4534	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.545777|2.545777	0.45280|0.45280	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.02631|.	4.22;4.58;4.22|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.41823|.	U|.	0.000802|.	T|T	0.69540|0.69540	0.3122|0.3122	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.65874|0.65874	-0.6062|-0.6062	10|5	0.33141|.	T|.	0.24|.	-28.4207|-28.4207	18.1868|18.1868	0.89796|0.89796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245;1512|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	K|K	818;1512;818|245	ENSP00000384606:E818K;ENSP00000349856:E1512K;ENSP00000398853:E818K|.	ENSP00000349856:E1512K|.	E|R	+|+	1|2	0|0	PRRC2B|PRRC2B	133343079|133343079	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.266000|0.266000	0.26442|0.26442	6.945000|6.945000	0.75947|0.75947	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GAG|AGA	PRRC2B	-	NULL		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134353258	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	0.991	A	A	134353258	G	A	134353258	3	1	6	1	0	0	0	0	1	0	0	0	1321	943	33	1	4596	1	BAT2L1	9	134353258	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	26802941	134353258	6860173	60	484										
NOTCH1	4851	genome.wustl.edu	37	chr9	139393593	139393594	+	Frame_Shift_Ins	INS	-	-	A													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tacggcgttgacgtcggcgtINSgtgagttgatgaggtcctcc							TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:139393593_139393594insA	ENST00000277541.6	-	32	6127_6128	c.6052_6053insT	c.(6052-6054)cacfs	p.H2018fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2018	HIF1AN-binding. {ECO:0000250}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GACGTCGGCGTGTGAGTTGATG	0.678			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001589	frameshift_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6052_6053insT	9.37:g.139393593_139393594insA	ENSP00000277541:p.His2018fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.H2018fs	ENST00000277541.6	37	c.6053_6052	CCDS43905.1	9																																																																																			NOTCH1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.678	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	NM_017617		139393594	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.998	A	A	139393594	-	A	139393593	7	5	6	1	0	1	1	0	0	0	0	0	10571	1696	59	0	1626	0	NOTCH1	9	139393593	Frame_Shift_Ins	INS	-	TCGA-C5-A1BF-01B-11D-A13W-08	5040335	139393593	1819838	61	485										
ANKRD30A	91074	genome.wustl.edu	37	chr10	37508313	37508313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtcaagaacctgctttccacAttgcaggagatgcttgtttg	10	9	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:37508313A>T	ENST00000602533.1	+	34	3604	c.3505A>T	c.(3505-3507)Att>Ttt	p.I1169F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1169F|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1288F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1225					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTTCCACATTGCAGGAGA	0.398																																																	0													68	63	65					10																	37508313		1871	4106	5977	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3505A>T	10.37:g.37508313A>T	ENSP00000473551:p.Ile1169Phe		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1169F	ENST00000602533.1	37	c.3505		10	.	.	.	.	.	.	.	.	.	.	a	2.739	-0.262614	0.05754	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13538	2.58;2.58	2.91	-1.15	0.09709	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.36114	-0.9761	9	0.56958	D	0.05	.	3.8322	0.08879	0.5565:0.1921:0.2515:0.0	.	1225	Q9BXX3	AN30A_HUMAN	F	1169;1288	ENSP00000354432:I1169F;ENSP00000363792:I1288F	ENSP00000354432:I1169F	I	+	1	0	ANKRD30A	37548319	0.998000	0.40836	0.042000	0.18584	0.000000	0.00434	0.587000	0.23909	0.237000	0.21200	-0.661000	0.03856	ATT	ANKRD30A	-	NULL		0.398	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	A	NM_052997		37508313	1	no_errors	ENST00000361713	ensembl	human	known	70_37	missense	SNP	0.387	T	T	37508313	A	T	37508313	3	4	6	1	0	0	0	0	1	0	0	0	658	217	8	5	3639	5	ANKRD30A	10	37508313	Missense_Mutation	SNP	A	TCGA-C5-A1BF-01B-11D-A13W-08		37508313	98026434	62	486										
RET	5979	genome.wustl.edu	37	chr10	43609028	43609028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cagcattgttgggggacacgAgcctggggagccccggggga	19	10	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:43609028A>C	ENST00000355710.3	+	10	2016	c.1784A>C	c.(1783-1785)gAg>gCg	p.E595A	RET_ENST00000340058.5_Missense_Mutation_p.E595A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	595			E -> Q (in HSCR1). {ECO:0000269|PubMed:22174939}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGGGACACGAGCCTGGGGAG	0.642		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	1	Deletion - In frame(1)	thyroid(1)											24	26	26					10																	43609028		2202	4300	6502	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1784A>C	10.37:g.43609028A>C	ENSP00000347942:p.Glu595Ala		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E595A	ENST00000355710.3	37	c.1784	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202818	0.38905	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98437	-1.23;-4.93;-1.35	4.92	4.92	0.64577	.	0.046701	0.85682	D	0.000000	D	0.97545	0.9196	M	0.63428	1.95	0.53688	D	0.999973	P;P;D	0.60160	0.848;0.939;0.987	B;P;P	0.54100	0.437;0.556;0.742	D	0.96269	0.9197	10	0.33940	T	0.23	.	8.889	0.35420	0.9108:0.0:0.0892:0.0	.	341;595;595	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	A	595;112;595	ENSP00000347942:E595A;ENSP00000419080:E112A;ENSP00000344798:E595A	ENSP00000344798:E595A	E	+	2	0	RET	42929034	1.000000	0.71417	0.962000	0.40283	0.010000	0.07245	4.474000	0.60203	1.853000	0.53794	0.460000	0.39030	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	A	NM_020975		43609028	1	no_errors	ENST00000355710	ensembl	human	known	70_37	missense	SNP	0.998	C	C	43609028	A	C	43609028	3	2	6	1	0	0	0	0	1	0	0	0	13265	304	11	5	1822	5	RET	10	43609028	Missense_Mutation	SNP	A	TCGA-C5-A1BF-01B-11D-A13W-08	6100715	43609028	91925719	63	487										
CNNM1	26507	genome.wustl.edu	37	chr10	101090617	101090617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gccttcgtggaccccgacgaCtgcaccccgctcctcactgt	9	19	1	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:101090617C>T	ENST00000356713.4	+	1	1762	c.1473C>T	c.(1471-1473)gaC>gaT	p.D491D	CNNM1_ENST00000370534.4_Silent_p.D126D|CNNM1_ENST00000446890.1_Silent_p.D420D|CNNM1_ENST00000370528.3_Silent_p.D420D	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	491	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACCCCGACGACTGCACCCCGC	0.562																																																	0													82	73	76					10																	101090617		2203	4300	6503	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1473C>T	10.37:g.101090617C>T			Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.D491	ENST00000356713.4	37	c.1473	CCDS7478.2	10																																																																																			CNNM1	-	NULL		0.562	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101090617	1	no_errors	ENST00000356713	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101090617	C	T	101090617	2	4	6	1	0	0	0	0	0	0	0	1	3617	564	20	4		4	CNNM1	10	101090617	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	57481589	101090617	34444130	64	488										
CHST15	51363	genome.wustl.edu	37	chr10	125804148	125804148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttgatggcggagaacttgacCtcagggtgcagccgcaggcg	16	10	1	3	rs146440479	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:125804148C>A	ENST00000346248.5	-	3	1476	c.834G>T	c.(832-834)gaG>gaT	p.E278D	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Missense_Mutation_p.E278D|CHST15_ENST00000421115.1_Missense_Mutation_p.E278D	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	278					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGAACTTGACCTCAGGGTGCA	0.622																																																	0													33	36	35					10																	125804148		2203	4300	6503	SO:0001583	missense	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.834G>T	10.37:g.125804148C>A	ENSP00000333947:p.Glu278Asp		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E278D	ENST00000346248.5	37	c.834	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096789	0.20552	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.49720	0.77;0.77;0.77	5.65	-9.42	0.00610	Sulfotransferase domain (1);	0.056401	0.64402	D	0.000002	T	0.11281	0.0275	N	0.03608	-0.345	0.32349	N	0.55875	B;B	0.20261	0.043;0.001	B;B	0.22152	0.038;0.007	T	0.39165	-0.9627	10	0.02654	T	1	-26.257	2.897	0.05693	0.2593:0.4643:0.1593:0.1172	.	278;278	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	D	278	ENSP00000333947:E278D;ENSP00000402394:E278D;ENSP00000412477:E278D	ENSP00000333947:E278D	E	-	3	2	CHST15	125794138	0.057000	0.20700	0.573000	0.28510	0.967000	0.64934	-0.686000	0.05161	-1.180000	0.02734	0.655000	0.94253	GAG	CHST15	-	pfam_Sulfotransferase_dom		0.622	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	C	NM_015892		125804148	-1	no_errors	ENST00000346248	ensembl	human	known	70_37	missense	SNP	0.580	A	A	125804148	C	A	125804148	3	1	6	1	0	0	0	0	1	0	0	0	3408	680	24	4	875	4	CHST15	10	125804148	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	24713531	125804148	9730599	65	489										
PAOX	196743	genome.wustl.edu	37	chr10	135195106	135195106	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agacctttccagtgtcggtaGagtgtgaggatggagaccgg	16	7	0	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:135195106G>C	ENST00000278060.5	+	3	894	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.E271Q|PAOX_ENST00000480071.2_Missense_Mutation_p.E271Q|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	409					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGTGTCGGTAGAGTGTGAGGA	0.587																																																	0													89	78	82					10																	135195106		2203	4300	6503	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.811G>C	10.37:g.135195106G>C	ENSP00000278060:p.Glu271Gln		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.E271Q	ENST00000278060.5	37	c.811	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565800	0.45694	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92099	-2.97;-2.97;-2.97	4.91	4.91	0.64330	.	0.180484	0.48286	D	0.000200	D	0.93350	0.7880	L	0.53780	1.695	0.80722	D	1	D;P;D	0.67145	0.957;0.594;0.996	P;P;P	0.59487	0.785;0.561;0.858	D	0.91325	0.5085	10	0.23891	T	0.37	-33.0773	15.6211	0.76808	0.0:0.0:1.0:0.0	.	271;271;271	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Q	271	ENSP00000278060:E271Q;ENSP00000349847:E271Q;ENSP00000435514:E271Q	ENSP00000278060:E271Q	E	+	1	0	PAOX	135045096	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.187000	0.77730	2.545000	0.85829	0.514000	0.50259	GAG	PAOX	-	pfam_Amino_oxidase		0.587	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	G	NM_152911		135195106	1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135195106	G	C	135195106	3	2	6	1	0	0	0	0	1	0	0	0	11447	943	33	1	821	1	PAOX	10	135195106	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	9390958	135195106	339641	66	490										
NLRP6	171389	genome.wustl.edu	37	chr11	280449	280449	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccttcttcatgccctgcggcGagctgctggagaggccgggc	15	14	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:280449G>T	ENST00000312165.5	+	4	715	c.715G>T	c.(715-717)Gag>Tag	p.E239*	NLRP6_ENST00000534750.1_Nonsense_Mutation_p.E239*	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	239	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCTGCGGCGAGCTGCTGGA	0.692																																																	0													22	22	22					11																	280449		2199	4297	6496	SO:0001587	stop_gained	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.715G>T	11.37:g.280449G>T	ENSP00000309767:p.Glu239*		A8K9F3|E9PJZ8	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E239*	ENST00000312165.5	37	c.715	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.867440	0.97043	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	.	.	.	3.44	3.44	0.39384	.	0.000000	0.36665	N	0.002474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3226	0.26536	0.1299:0.0:0.8701:0.0	.	.	.	.	X	239	.	ENSP00000309767:E239X	E	+	1	0	NLRP6	270449	0.615000	0.27026	0.820000	0.32676	0.918000	0.54935	0.883000	0.28200	1.867000	0.54127	0.462000	0.41574	GAG	NLRP6	-	pfscan_NACHT_NTPase		0.692	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		280449	1	no_errors	ENST00000312165	ensembl	human	known	70_37	nonsense	SNP	0.383	T	T	280449	G	T	280449	4	4	6	1	0	0	0	0	0	1	0	0	10505	1059	37	3	729	3	NLRP6	11	280449	Nonsense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		280449	134726067	67	491										
OR51D1	390038	genome.wustl.edu	37	chr11	4661675	4661675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gactcttcatcatcctctcaGtcatgggtgtggactctctc	8	13	6	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:4661675G>T	ENST00000357605.2	+	1	731	c.655G>T	c.(655-657)Gtc>Ttc	p.V219F	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCTCTCAGTCATGGGTGT	0.483																																																	0													283	236	252					11																	4661675		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.655G>T	11.37:g.4661675G>T	ENSP00000350222:p.Val219Phe		B9EIK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V219F	ENST00000357605.2	37	c.655	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347776	0.24426	.	.	ENSG00000197428	ENST00000357605	T	0.00188	8.59	4.29	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.181163	0.26563	N	0.023675	T	0.00210	0.0006	L	0.28192	0.835	0.30809	N	0.739088	P	0.50272	0.933	P	0.59171	0.853	T	0.55939	-0.8061	10	0.56958	D	0.05	.	4.9363	0.13943	0.1802:0.0:0.6509:0.169	.	219	Q8NGF3	O51D1_HUMAN	F	219	ENSP00000350222:V219F	ENSP00000350222:V219F	V	+	1	0	OR51D1	4618251	0.000000	0.05858	0.975000	0.42487	0.000000	0.00434	-0.229000	0.09098	0.522000	0.28464	-0.311000	0.09066	GTC	OR51D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	G	NM_001004751		4661675	1	no_errors	ENST00000357605	ensembl	human	known	70_37	missense	SNP	0.880	T	T	4661675	G	T	4661675	3	4	6	1	0	0	0	0	1	0	0	0	11117	1029	36	4	657	4	OR51D1	11	4661675	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	4381226	4661675	130344841	68	492										
RBMXL2	27288	genome.wustl.edu	37	chr11	7110706	7110706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gcgggggtggcggcggcccgCggcgttccccatcccggggc	20	16	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:7110706C>T	ENST00000306904.5	+	1	542	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	119	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		cggcggcccgcggcgTTCCCC	0.776																																																	0													1	1	1					11																	7110706		394	1011	1405	SO:0001583	missense	27288			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.355C>T	11.37:g.7110706C>T	ENSP00000304139:p.Arg119Trp		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R119W	ENST00000306904.5	37	c.355	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	9.038	0.989001	0.18966	.	.	ENSG00000170748	ENST00000306904	T	0.79352	-1.26	2.17	-2.94	0.05581	.	0.000000	0.85682	U	0.000000	T	0.69913	0.3164	M	0.79693	2.465	0.33598	D	0.601947	B	0.12013	0.005	B	0.06405	0.002	T	0.56366	-0.7991	10	0.56958	D	0.05	.	3.4147	0.07372	0.5332:0.213:0.0:0.2538	.	119	O75526	HNRGT_HUMAN	W	119	ENSP00000304139:R119W	ENSP00000304139:R119W	R	+	1	2	RBMXL2	7067282	0.987000	0.35691	0.006000	0.13384	0.006000	0.05464	0.476000	0.22180	-0.832000	0.04251	-0.856000	0.03024	CGG	RBMXL2	-	NULL		0.776	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	C	NM_014469		7110706	1	no_errors	ENST00000306904	ensembl	human	known	70_37	missense	SNP	0.415	T	T	7110706	C	T	7110706	3	4	6	1	0	0	0	0	1	0	0	0	13184	759	27	2	357	2	RBMXL2	11	7110706	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	2449031	7110706	127895810	69	493										
RNF141	50862	genome.wustl.edu	37	chr11	10546848	10546848	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgctgcttgacttgtgatatCtttataaagttgaataaact	7	5	1	3	rs575306687		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:10546848C>A	ENST00000265981.2	-	4	467	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	RNF141_ENST00000528665.1_Missense_Mutation_p.D109Y	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	109					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CTTGTGATATCTTTATAAAGT	0.378																																					Ovarian(8;377 410 25844 26058 41491)												0													104	100	101					11																	10546848		2201	4294	6495	SO:0001583	missense	50862			AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"RING-type (C3HC4) zinc fingers"	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.325G>T	11.37:g.10546848C>A	ENSP00000265981:p.Asp109Tyr		A8K149|Q9NZB4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D109Y	ENST00000265981.2	37	c.325	CCDS7803.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950355	0.92660	.	.	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	T	0.72394	-0.65	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83473	0.0060	10	0.66056	D	0.02	-17.6063	19.6778	0.95943	0.0:1.0:0.0:0.0	.	109	Q8WVD5	RN141_HUMAN	Y	109	ENSP00000265981:D109Y	ENSP00000265981:D109Y	D	-	1	0	RNF141	10503424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.426000	0.80270	2.645000	0.89757	0.650000	0.86243	GAT	RNF141	-	NULL		0.378	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF141	HGNC	protein_coding	OTTHUMT00000385888.1	C	NM_016422		10546848	-1	no_errors	ENST00000265981	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10546848	C	A	10546848	3	1	6	1	0	0	0	0	1	0	0	0	13474	913	32	3	379	3	RNF141	11	10546848	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	3436142	10546848	124459668	70	494										
LUZP2	338645	genome.wustl.edu	37	chr11	25004778	25004778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aatcacatcaaatccaactcGgatgttactcccacccagga	5	14	2	0	rs139865032		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:25004778G>T	ENST00000336930.6	+	9	770	c.704G>T	c.(703-705)cGg>cTg	p.R235L	LUZP2_ENST00000533227.1_Missense_Mutation_p.R149L			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	235						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATCCAACTCGGATGTTACTC	0.453																																																	0													159	136	144					11																	25004778		2203	4300	6503	SO:0001583	missense	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.704G>T	11.37:g.25004778G>T	ENSP00000336817:p.Arg235Leu		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	NULL	p.R235L	ENST00000336930.6	37	c.704	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723474	0.30593	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.24723	1.84;1.84	5.42	0.037	0.14194	.	0.407977	0.24532	N	0.037713	T	0.09379	0.0231	N	0.08118	0	0.20196	N	0.99993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25916	-1.0118	10	0.21014	T	0.42	-0.8839	4.197	0.10448	0.6007:0.0:0.1477:0.2517	.	149;235	E9PN53;Q86TE4	.;LUZP2_HUMAN	L	235;149	ENSP00000336817:R235L;ENSP00000432952:R149L	ENSP00000336817:R235L	R	+	2	0	LUZP2	24961354	1.000000	0.71417	0.520000	0.27837	0.273000	0.26683	1.141000	0.31528	-0.179000	0.10654	-0.295000	0.09555	CGG	LUZP2	-	NULL		0.453	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	G	NM_001009909		25004778	1	no_errors	ENST00000336930	ensembl	human	known	70_37	missense	SNP	0.984	T	T	25004778	G	T	25004778	3	4	6	1	0	0	0	0	1	0	0	0	9110	1116	39	2	738	2	LUZP2	11	25004778	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	14457930	25004778	110001738	71	495										
STX3	6809	genome.wustl.edu	37	chr11	59560600	59560600	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aagacaaccgatgaggagctGgaggagatgttggagagtgg	18	4	0	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:59560600G>T	ENST00000337979.4	+	7	1042	c.495G>T	c.(493-495)ctG>ctT	p.L165L	STX3_ENST00000437946.2_Silent_p.L68L|STX3_ENST00000300150.7_Silent_p.L134L|STX3_ENST00000535361.1_Silent_p.L165L|STX3_ENST00000529177.1_Silent_p.L165L	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	165					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATGAGGAGCTGGAGGAGATGT	0.507																																																	0													102	95	97					11																	59560600		2201	4295	6496	SO:0001819	synonymous_variant	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.495G>T	11.37:g.59560600G>T			B4DME0|O43750|O43751|Q15360	Silent	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L165	ENST00000337979.4	37	c.495	CCDS7975.1	11																																																																																			STX3	-	superfamily_t-SNARE		0.507	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	G	NM_004177		59560600	1	no_errors	ENST00000337979	ensembl	human	known	70_37	silent	SNP	1.000	T	T	59560600	G	T	59560600	2	4	6	1	0	0	0	0	0	0	0	1	15376	1335	47	4		4	STX3	11	59560600	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	34555822	59560600	75445916	72	496										
SYT7	9066	genome.wustl.edu	37	chr11	61291945	61291945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggggtcgttgcggctgaagcGgtcatagtccaggacttgga	17	8	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:61291945G>A	ENST00000263846.4	-	6	1009	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	SYT7_ENST00000540677.1_Missense_Mutation_p.R303C|SYT7_ENST00000535826.1_Missense_Mutation_p.R347C|SYT7_ENST00000542836.1_Missense_Mutation_p.R272C|SYT7_ENST00000539008.1_Missense_Mutation_p.R511C|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.R436C	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGCTGAAGCGGTCATAGTCC	0.557																																																	0													93	85	88					11																	61291945		2202	4299	6501	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.682C>T	11.37:g.61291945G>A	ENSP00000263846:p.Arg228Cys		F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.R228C	ENST00000263846.4	37	c.682	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628315	0.87560	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.53180	-0.8475	10	0.87932	D	0	.	17.9665	0.89100	0.0:0.0:1.0:0.0	.	303;228	F5GZU9;O43581	.;SYT7_HUMAN	C	228;303;511;272;436;347	ENSP00000263846:R228C;ENSP00000444201:R303C;ENSP00000439694:R511C;ENSP00000444568:R272C;ENSP00000444019:R436C;ENSP00000437720:R347C	ENSP00000263846:R228C	R	-	1	0	SYT7	61048521	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.751000	0.98889	2.287000	0.76781	0.462000	0.41574	CGC	SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61291945	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61291945	G	A	61291945	3	1	6	1	0	0	0	0	1	0	0	0	15509	1116	39	2	545	2	SYT7	11	61291945	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	1731345	61291945	73714571	73	497										
FGF3	2248	genome.wustl.edu	37	chr11	69625367	69625367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gcgctgggctgccggcgggcCccaggcgtactagacaccgt	16	15	0	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:69625367C>T	ENST00000334134.2	-	3	516	c.426G>A	c.(424-426)ggG>ggA	p.G142G		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	142					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCCGGCGGGCCCCAGGCGTAC	0.652																																																	0													26	33	31					11																	69625367		2197	4287	6484	SO:0001819	synonymous_variant	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.426G>A	11.37:g.69625367C>T			Q0VG69	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.G142	ENST00000334134.2	37	c.426	CCDS8195.1	11																																																																																			FGF3	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.652	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	C	NM_005247		69625367	-1	no_errors	ENST00000334134	ensembl	human	known	70_37	silent	SNP	1.000	T	T	69625367	C	T	69625367	2	4	6	1	0	0	0	0	0	0	0	1	5871	610	22	4		4	FGF3	11	69625367	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	8333422	69625367	65381149	74	498										
ARRB1	408	genome.wustl.edu	37	chr11	74995312	74995312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gagatactcaggatccaccaGgaccacaccatctggggaaa	10	12	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:74995312G>T	ENST00000420843.2	-	4	221	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	ARRB1_ENST00000393505.4_Missense_Mutation_p.L42M|ARRB1_ENST00000360025.3_Missense_Mutation_p.L42M	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	42	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GGATCCACCAGGACCACACCA	0.607																																																	0													66	59	62					11																	74995312		2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.124C>A	11.37:g.74995312G>T	ENSP00000409581:p.Leu42Met		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.L42M	ENST00000420843.2	37	c.124	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216954	0.58452	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.2	4.28	0.50868	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.64402	D	0.000012	T	0.43809	0.1264	M	0.89163	3.01	0.48087	D	0.999585	D;D	0.76494	0.994;0.999	P;D	0.76071	0.81;0.987	T	0.44667	-0.9313	10	0.87932	D	0	-13.7587	7.7254	0.28757	0.1883:0.0:0.8117:0.0	.	42;42	P49407-2;P49407	.;ARRB1_HUMAN	M	42;42;42;37	ENSP00000409581:L42M;ENSP00000377141:L42M;ENSP00000353124:L42M;ENSP00000433171:L37M	ENSP00000353124:L42M	L	-	1	2	ARRB1	74672960	0.998000	0.40836	1.000000	0.80357	0.942000	0.58702	1.734000	0.38166	1.173000	0.42796	0.462000	0.41574	CTG	ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin		0.607	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	G	NM_004041		74995312	-1	no_errors	ENST00000393505	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74995312	G	T	74995312	3	4	6	1	0	0	0	0	1	0	0	0	981	991	35	4	1184	4	ARRB1	11	74995312	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	5369945	74995312	60011204	75	499										
ODZ4	26011	genome.wustl.edu	37	chr11	78516464	78516464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtctcgcagttggtgcctccCcatcccacagagcagtggca	11	15	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:78516464C>A	ENST00000278550.7	-	15	2514	c.2052G>T	c.(2050-2052)tgG>tgT	p.W684C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	684	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGGTGCCTCCCCATCCCACAG	0.607																																																	0													46	54	51					11																	78516464		2140	4237	6377	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2052G>T	11.37:g.78516464C>A	ENSP00000278550:p.Trp684Cys		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.W684C	ENST00000278550.7	37	c.2052	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588445	0.86851	.	.	ENSG00000149256	ENST00000278550	T	0.12672	2.66	5.1	5.1	0.69264	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67960	-0.5535	9	.	.	.	.	18.7262	0.91714	0.0:1.0:0.0:0.0	.	684	Q6N022	TEN4_HUMAN	C	684	ENSP00000278550:W684C	.	W	-	3	0	ODZ4	78194112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.644000	0.89710	0.563000	0.77884	TGG	TENM4	-	pfam_EGF_extracell,smart_EG-like_dom		0.607	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78516464	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78516464	C	A	78516464	3	1	6	1	0	0	0	0	1	0	0	0	10861	624	22	4	6337	4	ODZ4	11	78516464	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	3521152	78516464	56490052	76	500										
DLG2	1740	genome.wustl.edu	37	chr11	83252886	83252886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccactgtccttgctcttgtcGtagtcgaacatggctctgga	10	12	2	0	rs183726641		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:83252886G>T	ENST00000532653.1	-	15	1943	c.1641C>A	c.(1639-1641)taC>taA	p.Y547*	DLG2_ENST00000531015.1_Nonsense_Mutation_p.Y514*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.Y586*|DLG2_ENST00000404783.3_Nonsense_Mutation_p.Y29*|DLG2_ENST00000398309.2_Nonsense_Mutation_p.Y547*|DLG2_ENST00000530800.1_Nonsense_Mutation_p.Y56*|DLG2_ENST00000398304.1_Nonsense_Mutation_p.Y29*|DLG2_ENST00000426717.2_Nonsense_Mutation_p.Y29*|DLG2_ENST00000537455.1_Nonsense_Mutation_p.Y301*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.Y652*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.Y547*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.Y652*|DLG2_ENST00000376106.3_Nonsense_Mutation_p.Y29*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.Y486*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.Y444*			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	260	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGCTCTTGTCGTAGTCGAACA	0.438																																																	0													81	77	78					11																	83252886		1957	4183	6140	SO:0001587	stop_gained	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1641C>A	11.37:g.83252886G>T	ENSP00000435849:p.Tyr547*		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Y652*	ENST00000532653.1	37	c.1956		11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221549	0.79464	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000420775;ENST00000524601;ENST00000398304;ENST00000530800;ENST00000529399;ENST00000434967	.	.	.	5.43	-1.3	0.09259	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0837	0.48074	0.7342:0.0:0.2658:0.0	.	.	.	.	X	547;29;652;444;652;586;29;486;301;29;547;547;652;514;29;29;29;56;29;58	.	.	Y	-	3	2	DLG2	82930534	0.999000	0.42202	0.992000	0.48379	0.958000	0.62258	0.985000	0.29578	-0.382000	0.07870	-1.044000	0.02363	TAC	DLG2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain		0.438	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	G	NM_001364		83252886	-1	no_errors	ENST00000376104	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	83252886	G	T	83252886	4	4	6	1	0	0	0	0	0	1	0	0	4565	1140	40	2	1057	2	DLG2	11	83252886	Nonsense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	4736422	83252886	51753630	77	501										
MMP20	9313	genome.wustl.edu	37	chr11	102479695	102479695	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgcctggatccctttcacatCatctttggggaggtggaatc	11	10	3	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:102479695C>A	ENST00000260228.2	-	5	796	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	RP11-817J15.2_ENST00000544115.1_RNA|RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	271					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CCTTTCACATCATCTTTGGGG	0.468																																																	0													151	135	140					11																	102479695		2203	4299	6502	SO:0001583	missense	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.784G>T	11.37:g.102479695C>A	ENSP00000260228:p.Asp262Tyr		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D262Y	ENST00000260228.2	37	c.784	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320559	0.60634	.	.	ENSG00000137674	ENST00000260228	T	0.73897	-0.79	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95648	0.8704	10	0.87932	D	0	.	18.9412	0.92605	0.0:1.0:0.0:0.0	.	262	O60882	MMP20_HUMAN	Y	262	ENSP00000260228:D262Y	ENSP00000260228:D262Y	D	-	1	0	MMP20	101984905	1.000000	0.71417	0.982000	0.44146	0.089000	0.18198	7.376000	0.79658	2.793000	0.96121	0.655000	0.94253	GAT	MMP20	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.468	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	C			102479695	-1	no_errors	ENST00000260228	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102479695	C	A	102479695	3	1	6	1	0	0	0	0	1	0	0	0	9682	826	29	3	691	3	MMP20	11	102479695	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	19226809	102479695	32526821	78	502										
MMP12	4321	genome.wustl.edu	37	chr11	102738638	102738638	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	atgataaagaattcaactcaCcatacagggactgaatgcca	7	9	2	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:102738638C>A	ENST00000532855.1	-	0	883							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ATTCAACTCACCATACAGGGA	0.358																																																	0													54	53	53					11																	102738638		1896	4118	6014			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738638C>A			B2R9X8|B7ZLF6|Q2M1L9	Splice_Site	SNP	-	NULL	ENST00000532855.1	37	c.NULL		11																																																																																			MMP12	-	-		0.358	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102738638	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	102738638	C	A	102738638	1	1	6	0	1	0	0	0	0	0	0	0	9674	521	18	4		4	MMP12	11	102738638	RNA	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	258943	102738638	32267878	79	503										
PPP2R1B	5519	genome.wustl.edu	37	chr11	111635535	111635535	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttataaatactcaccagcagAcagtgggcaaagtcaggacc	9	10	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:111635535A>G	ENST00000527614.1	-	3	365	c.300T>C	c.(298-300)tgT>tgC	p.C100C	PPP2R1B_ENST00000311129.5_Silent_p.C100C|PPP2R1B_ENST00000341980.6_Silent_p.C100C|PPP2R1B_ENST00000393055.2_Silent_p.C100C|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	100					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCACCAGCAGACAGTGGGCAA	0.418																																																	0													88	81	83					11																	111635535		2201	4297	6498	SO:0001819	synonymous_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.300T>C	11.37:g.111635535A>G			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.C100	ENST00000527614.1	37	c.300	CCDS8349.1	11																																																																																			PPP2R1B	-	superfamily_ARM-type_fold		0.418	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1	A	NM_002716		111635535	-1	no_errors	ENST00000311129	ensembl	human	known	70_37	silent	SNP	1.000	G	G	111635535	A	G	111635535	2	3	6	1	0	0	0	0	0	0	0	1	12410	273	10	5		5	PPP2R1B	11	111635535	Silent	SNP	A	TCGA-C5-A1BF-01B-11D-A13W-08	8896897	111635535	23370981	80	504										
C11orf52	91894	genome.wustl.edu	37	chr11	111795061	111795061	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctattacaggagctgcccatCaactttccagaagaaaaaga	7	10	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:111795061C>G	ENST00000278601.5	+	2	140	c.44C>G	c.(43-45)tCa>tGa	p.S15*	HSPB2-C11orf52_ENST00000534100.1_3'UTR|DIXDC1_ENST00000529225.1_5'Flank|CRYAB_ENST00000527950.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	15						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGCTGCCCATCAACTTTCCAG	0.468																																																	0													133	141	138					11																	111795061		2201	4297	6498	SO:0001587	stop_gained	91894			AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.44C>G	11.37:g.111795061C>G	ENSP00000278601:p.Ser15*			Nonsense_Mutation	SNP	NULL	p.S15*	ENST00000278601.5	37	c.44	CCDS8353.1	11	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298488	0.40694	.	.	ENSG00000149300	ENST00000529342;ENST00000278601	.	.	.	5.2	5.2	0.72013	.	0.184499	0.26642	N	0.023260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.4188	14.4281	0.67230	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000278601:S15X	S	+	2	0	C11orf52	111300271	0.982000	0.34865	0.265000	0.24526	0.014000	0.08584	3.543000	0.53633	2.861000	0.98227	0.655000	0.94253	TCA	C11orf52	-	NULL		0.468	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf52	HGNC	protein_coding	OTTHUMT00000391673.1	C	NM_080659		111795061	1	no_errors	ENST00000278601	ensembl	human	known	70_37	nonsense	SNP	0.759	G	G	111795061	C	G	111795061	4	3	6	1	0	0	0	0	0	1	0	0	1651	838	29	1	50	1	C11orf52	11	111795061	Nonsense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	159526	111795061	23211455	81	505										
CD3D	915	genome.wustl.edu	37	chr11	118213300	118213300	+	Missense_Mutation	SNP	G	G	T													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gggtagccagtaccaggccaGagagaaacgtgctatgttcc							TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:118213300G>T	ENST00000300692.4	-	1	159	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CD3D_ENST00000529594.1_Missense_Mutation_p.S8Y|CD3G_ENST00000532917.1_5'Flank|CD3G_ENST00000392883.2_5'Flank|CD3D_ENST00000392884.2_Missense_Mutation_p.S8Y	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	8					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	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;3.04e-05)	Muromonab(DB00075)	TACCAGGCCAGAGAGAAACGT	0.572																																																	0													159	114	129					11																	118213300		2200	4296	6496	SO:0001583	missense	915			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.23C>A	11.37:g.118213300G>T	ENSP00000300692:p.Ser8Tyr		A8MVP6	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.S8Y	ENST00000300692.4	37	c.23	CCDS8394.1	11	.	.	.	.	.	.	.	.	.	.	G	8.259	0.810645	0.16537	.	.	ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884	T;T;T	0.70986	-0.17;-0.53;0.8	4.88	0.824	0.18818	.	0.853589	0.10690	N	0.645339	T	0.66015	0.2747	L	0.51422	1.61	0.09310	N	1	P;P	0.51653	0.947;0.947	P;B	0.47744	0.556;0.254	T	0.56141	-0.8028	10	0.66056	D	0.02	-0.2608	4.7837	0.13215	0.2576:0.1585:0.5839:0.0	.	8;8	A8MVP6;P04234	.;CD3D_HUMAN	Y	8	ENSP00000300692:S8Y;ENSP00000437335:S8Y;ENSP00000376622:S8Y	ENSP00000300692:S8Y	S	-	2	0	CD3D	117718510	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	0.222000	0.17699	0.068000	0.16574	0.655000	0.94253	TCT	CD3D	-	NULL		0.572	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3D	HGNC	protein_coding	OTTHUMT00000392128.1	G	NM_000732		118213300	-1	no_errors	ENST00000300692	ensembl	human	known	70_37	missense	SNP	0.007	T	T	118213300	G	T	118213300	3	4	6	1	0	0	0	0	1	0	0	0	3015	942	33	3	512	3	CD3D	11	118213300	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	6418239	118213300	16793216	82	506	2	2								
CD3D	915	genome.wustl.edu	37	chr11	118213309	118213309	+	Missense_Mutation	SNP	G	G	T													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtaccaggccagagagaaacGtgctatgttccatctcccag					rs200390025		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:118213309G>T	ENST00000300692.4	-	1	150	c.14C>A	c.(13-15)aCg>aAg	p.T5K	CD3D_ENST00000529594.1_Missense_Mutation_p.T5K|CD3G_ENST00000532917.1_5'Flank|CD3G_ENST00000392883.2_5'Flank|CD3D_ENST00000392884.2_Missense_Mutation_p.T5K	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	5					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	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;3.04e-05)	Muromonab(DB00075)	AGAGAGAAACGTGCTATGTTC	0.562																																																	0													159	113	129					11																	118213309		2200	4296	6496	SO:0001583	missense	915			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.14C>A	11.37:g.118213309G>T	ENSP00000300692:p.Thr5Lys		A8MVP6	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.T5K	ENST00000300692.4	37	c.14	CCDS8394.1	11	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782114	0.31502	.	.	ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884	T;T;T	0.63744	0.03;-0.06;1.01	4.88	0.678	0.17969	.	0.815377	0.11539	N	0.553986	T	0.20820	0.0501	N	0.00841	-1.15	0.09310	N	1	B;B	0.19073	0.023;0.033	B;B	0.15484	0.008;0.013	T	0.33854	-0.9852	10	0.02654	T	1	-0.0053	2.6409	0.04971	0.326:0.4159:0.1652:0.0929	.	5;5	A8MVP6;P04234	.;CD3D_HUMAN	K	5	ENSP00000300692:T5K;ENSP00000437335:T5K;ENSP00000376622:T5K	ENSP00000300692:T5K	T	-	2	0	CD3D	117718519	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.028000	0.12350	0.361000	0.24292	-0.823000	0.03104	ACG	CD3D	-	NULL		0.562	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3D	HGNC	protein_coding	OTTHUMT00000392128.1	G	NM_000732		118213309	-1	no_errors	ENST00000300692	ensembl	human	known	70_37	missense	SNP	0.000	T	T	118213309	G	T	118213309	3	4	6	1	0	0	0	0	1	0	0	0	3015	1145	40	2	521	2	CD3D	11	118213309	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	9	118213309	16793207	83	507	2	2								
TAS2R43	259289	genome.wustl.edu	37	chr12	11244687	11244687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggagaccgccagagcagtgaGaatttggtcagcaaaggaga	15	7	1	4	rs200922417|rs113197337	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:11244687G>C	ENST00000531678.1	-	1	225	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	48					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGAGCAGTGAGAATTTGGTCA	0.383																																																	0													53	48	49					12																	11244687		2019	4101	6120	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.142C>G	12.37:g.11244687G>C	ENSP00000431719:p.Leu48Val		P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L48V	ENST00000531678.1	37	c.142	CCDS53749.1	12	.	.	.	.	.	.	.	.	.	.	-	6.625	0.483814	0.12581	.	.	ENSG00000255374	ENST00000531678	T	0.01484	4.84	1.97	0.973	0.19710	.	.	.	.	.	T	0.06142	0.0159	M	0.90145	3.09	0.80722	P	0.0	B	0.34264	0.446	B	0.43867	0.434	T	0.01048	-1.1469	8	0.56958	D	0.05	.	6.121	0.20154	0.0:0.3247:0.6753:0.0	.	48	P59537	T2R43_HUMAN	V	48	ENSP00000431719:L48V	ENSP00000431719:L48V	L	-	1	0	TAS2R43	11135954	0.601000	0.26907	0.010000	0.14722	0.027000	0.11550	1.075000	0.30716	0.130000	0.18549	0.184000	0.17185	CTC	TAS2R43	-	pfam_TAS2_rcpt		0.383	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	G	NM_176884		11244687	-1	no_errors	ENST00000531678	ensembl	human	known	70_37	missense	SNP	0.022	C	C	11244687	G	C	11244687	3	2	6	1	0	0	0	0	1	0	0	0	15611	942	33	1	791	1	TAS2R43	12	11244687	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		11244687	122607208	84	508										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43945017	43945017	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agggaacacttctccaaactCattgacccgctcggggatca	9	13	3	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:43945017C>T	ENST00000389420.3	-	2	147	c.148G>A	c.(148-150)Gag>Aag	p.E50K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E50K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	50					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCCAAACTCATTGACCCGC	0.592																																																	0													81	72	75					12																	43945017		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.148G>A	12.37:g.43945017C>T	ENSP00000374071:p.Glu50Lys		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E50K	ENST00000389420.3	37	c.148	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842099	0.91197	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06068	3.35;3.35	3.23	3.23	0.37069	Peptidase M12B, propeptide (1);	0.000000	0.34652	N	0.003798	T	0.16981	0.0408	L	0.59436	1.845	0.80722	D	1	P	0.51933	0.949	P	0.58620	0.842	T	0.02167	-1.1202	10	0.44086	T	0.13	.	15.3402	0.74290	0.0:1.0:0.0:0.0	.	50	P59510	ATS20_HUMAN	K	50	ENSP00000374071:E50K;ENSP00000448341:E50K	ENSP00000374068:E50K	E	-	1	0	ADAMTS20	42231284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.122000	0.77169	2.105000	0.64084	0.655000	0.94253	GAG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.592	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43945017	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43945017	C	T	43945017	3	4	6	1	0	0	0	0	1	0	0	0	266	835	29	1	5735	1	ADAMTS20	12	43945017	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	32700330	43945017	89906878	85	509										
AQP2	359	genome.wustl.edu	37	chr12	50347951	50347951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tccccagctcagcaacagcaCgacggctggccaggcggtga	13	15	1	1	rs104894333		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:50347951C>T	ENST00000199280.3	+	2	459	c.374C>T	c.(373-375)aCg>aTg	p.T125M	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	125			T -> M (in ANDI). {ECO:0000269|PubMed:12191971, ECO:0000269|PubMed:9550615, ECO:0000269|PubMed:9745427}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGCAACAGCACGACGGCTGGC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		18558	0		0	False		,,,				2504	0																0			GRCh37	CM980100	AQP2	M	rs104894333						69	72	71					12																	50347951		2203	4300	6503	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.374C>T	12.37:g.50347951C>T	ENSP00000199280:p.Thr125Met		Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.T125M	ENST00000199280.3	37	c.374	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953782	0.34471	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85411	-1.98;-1.98	4.57	4.57	0.56435	Aquaporin-like (2);	0.446030	0.21028	N	0.081386	D	0.89093	0.6617	L	0.46567	1.45	0.26837	N	0.968468	D	0.63046	0.992	D	0.67548	0.952	T	0.83039	-0.0158	10	0.59425	D	0.04	-3.4821	15.207	0.73186	0.0:1.0:0.0:0.0	.	125	P41181	AQP2_HUMAN	M	125	ENSP00000199280:T125M;ENSP00000450022:T125M	ENSP00000199280:T125M	T	+	2	0	AQP2	48634218	0.894000	0.30519	0.096000	0.21009	0.608000	0.37181	3.692000	0.54727	2.276000	0.75962	0.491000	0.48974	ACG	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.637	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50347951	1	no_errors	ENST00000199280	ensembl	human	known	70_37	missense	SNP	0.912	T	T	50347951	C	T	50347951	3	4	6	1	0	0	0	0	1	0	0	0	826	536	19	2	380	2	AQP2	12	50347951	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	6402934	50347951	83503944	86	510										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80201041	80201042	+	Frame_Shift_Ins	INS	-	-	T													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	atccttcattaactgagctaINSttttttttaagatcatcttc							TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:80201041_80201042insT	ENST00000450142.2	-	12	1885_1886	c.1619_1620insA	c.(1618-1620)aatfs	p.N540fs	PPP1R12A_ENST00000550107.1_Frame_Shift_Ins_p.N540fs|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000261207.5_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000437004.2_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000546369.1_Frame_Shift_Ins_p.N453fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	540	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TAACTGAGCTATTTTTTTTAAG	0.302																																																	0																																										SO:0001589	frameshift_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1620dupA	12.37:g.80201049_80201049dupT	ENSP00000389168:p.Asn540fs		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Ins	INS	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N540fs	ENST00000450142.2	37	c.1620_1619	CCDS44947.1	12																																																																																			PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.302	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	-	NM_002480		80201042	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	80201042	-	T	80201041	7	5	6	1	0	1	1	0	0	0	0	0	12381	446	16	0	1528	0	PPP1R12A	12	80201041	Frame_Shift_Ins	INS	-	TCGA-C5-A1BF-01B-11D-A13W-08	29853090	80201041	53650854	87	511										
DEPDC4	120863	genome.wustl.edu	37	chr12	100649885	100649885	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gcaagtgttagtgataacaaGatcttcctctttgtttagtt	8	6	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:100649885G>C	ENST00000416321.1	-	4	822	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	Y_RNA_ENST00000384063.1_RNA	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	274					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GTGATAACAAGATCTTCCTCT	0.323																																																	0													173	154	160					12																	100649885		2203	4298	6501	SO:0001583	missense	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.820C>G	12.37:g.100649885G>C	ENSP00000396234:p.Leu274Val		Q496C8|Q96BW0	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.L274V	ENST00000416321.1	37	c.820	CCDS9075.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.034899|2.034899	0.35893|0.35893	.|.	.|.	ENSG00000166153|ENSG00000166153	ENST00000548313|ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.|T;T;T;T	.|0.44482	.|0.92;1.26;1.08;0.94	4.82|4.82	2.96|2.96	0.34315|0.34315	.|.	.|0.334869	.|0.27735	.|U	.|0.018068	T|T	0.49372|0.49372	0.1553|0.1553	M|M	0.61703|0.61703	1.905|1.905	0.25595|0.25595	N|N	0.986658|0.986658	.|D;D;B;B	.|0.67145	.|0.996;0.996;0.416;0.416	.|P;P;B;B	.|0.57283	.|0.817;0.817;0.147;0.147	T|T	0.41502|0.41502	-0.9505|-0.9505	5|10	.|0.66056	.|D	.|0.02	.|.	5.1197|5.1197	0.14854|0.14854	0.0838:0.1445:0.6229:0.1489|0.0838:0.1445:0.6229:0.1489	.|.	.|274;274;220;274	.|E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.|.;.;.;DEPD4_HUMAN	M|V	84|274;220;274;274;220;267	.|ENSP00000396234:L274V;ENSP00000448385:L274V;ENSP00000448338:L220V;ENSP00000449590:L267V	.|ENSP00000367490:L274V	I|L	-|-	3|1	3|0	DEPDC4|DEPDC4	99174016|99174016	0.602000|0.602000	0.26916|0.26916	0.008000|0.008000	0.14137|0.14137	0.496000|0.496000	0.33645|0.33645	0.357000|0.357000	0.20199|0.20199	0.411000|0.411000	0.25702|0.25702	0.514000|0.514000	0.50259|0.50259	ATC|CTT	DEPDC4	-	NULL		0.323	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	G	NM_152317		100649885	-1	no_errors	ENST00000378244	ensembl	human	known	70_37	missense	SNP	0.952	C	C	100649885	G	C	100649885	3	2	6	1	0	0	0	0	1	0	0	0	4451	942	33	1	72	1	DEPDC4	12	100649885	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	20448844	100649885	33202010	88	512										
PXN	5829	genome.wustl.edu	37	chr12	120650348	120650348	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tagggctgcccgtcgtgctcGaagaagctgccgttcacgaa	13	12	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:120650348G>A	ENST00000228307.7	-	12	1686	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PXN_ENST00000397506.3_Silent_p.F327F|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000267257.7_Silent_p.F529F|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN_ENST00000424649.2_Silent_p.F481F|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Silent_p.F348F|PXN_ENST00000536957.1_Silent_p.F513F	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	515	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCGTGCTCGAAGAAGCTGC	0.657																																																	0													46	52	50					12																	120650348		2074	4200	6274	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1545C>T	12.37:g.120650348G>A			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.F529	ENST00000228307.7	37	c.1587	CCDS44997.1	12																																																																																			PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.657	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	G	NM_002859		120650348	-1	no_errors	ENST00000267257	ensembl	human	known	70_37	silent	SNP	0.510	A	A	120650348	G	A	120650348	2	1	6	1	0	0	0	0	0	0	0	1	12882	1049	37	1		1	PXN	12	120650348	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	20000463	120650348	13201547	89	513										
LATS2	26524	genome.wustl.edu	37	chr13	21562747	21562747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gccggaaggccacgtgcgcgCgcggcggcgcctccaggccc	17	18	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:21562747C>T	ENST00000382592.4	-	4	1577	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	LATS2_ENST00000542899.1_Missense_Mutation_p.R391H|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CACGTGCGCGCGCGGCGGCGC	0.731																																																	0													9	13	11					13																	21562747		2086	4060	6146	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1172G>A	13.37:g.21562747C>T	ENSP00000372035:p.Arg391His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R391H	ENST00000382592.4	37	c.1172	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989873	0.54041	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.59638	0.25;0.25	3.35	3.35	0.38373	.	0.098700	0.42053	D	0.000763	T	0.65729	0.2719	L	0.47190	1.495	0.22185	N	0.999303	D	0.76494	0.999	P	0.61722	0.893	T	0.59490	-0.7445	10	0.45353	T	0.12	.	15.0328	0.71720	0.0:1.0:0.0:0.0	.	391	Q9NRM7	LATS2_HUMAN	H	391	ENSP00000372035:R391H;ENSP00000441817:R391H	ENSP00000372035:R391H	R	-	2	0	LATS2	20460747	0.992000	0.36948	0.005000	0.12908	0.718000	0.41266	1.674000	0.37544	1.735000	0.51646	0.297000	0.19635	CGC	LATS2	-	NULL		0.731	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	C			21562747	-1	no_errors	ENST00000382592	ensembl	human	known	70_37	missense	SNP	0.271	T	T	21562747	C	T	21562747	3	4	6	1	0	0	0	0	1	0	0	0	8667	768	27	2	2114	2	LATS2	13	21562747	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		21562747	93607131	90	514										
USPL1	10208	genome.wustl.edu	37	chr13	31232650	31232650	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cagaaggccagccacgtatcCaagaaagctcgtaagagtgc	11	11	0	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:31232650C>A	ENST00000255304.4	+	9	2778	c.2436C>A	c.(2434-2436)tcC>tcA	p.S812S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	812					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCCACGTATCCAAGAAAGCTC	0.453																																					Ovarian(60;318 1180 1554 28110 31601)												0													53	53	53					13																	31232650		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2436C>A	13.37:g.31232650C>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S812	ENST00000255304.4	37	c.2436	CCDS9336.1	13																																																																																			USPL1	-	NULL		0.453	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	C	NM_005800		31232650	1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.050	A	A	31232650	C	A	31232650	2	1	6	1	0	0	0	0	0	0	0	1	17123	581	21	4		4	USPL1	13	31232650	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	9669903	31232650	83937228	91	515										
SLITRK5	26050	genome.wustl.edu	37	chr13	88328010	88328010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttatccaggacattgagaccGgggctttccatgggctacgg	13	10	0	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:88328010G>A	ENST00000325089.6	+	2	586	c.367G>A	c.(367-369)Ggg>Agg	p.G123R	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	123					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.G123W(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATTGAGACCGGGGCTTTCCA	0.453																																																	1	Substitution - Missense(1)	lung(1)											100	104	103					13																	88328010		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.367G>A	13.37:g.88328010G>A	ENSP00000366283:p.Gly123Arg		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G123R	ENST00000325089.6	37	c.367	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183748	0.57800	.	.	ENSG00000165300	ENST00000325089	T	0.53857	0.6	5.94	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67209	-0.5728	9	.	.	.	-12.3867	12.9129	0.58190	0.0782:0.0:0.9218:0.0	.	123	O94991	SLIK5_HUMAN	R	123	ENSP00000366283:G123R	.	G	+	1	0	SLITRK5	87126011	1.000000	0.71417	0.896000	0.35187	0.946000	0.59487	9.869000	0.99810	1.533000	0.49186	0.561000	0.74099	GGG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp		0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88328010	1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	0.999	A	A	88328010	G	A	88328010	3	1	6	1	0	0	0	0	1	0	0	0	14776	1116	39	2	369	2	SLITRK5	13	88328010	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	57095360	88328010	26841868	92	516										
FNTB	2342	genome.wustl.edu	37	chr14	65494288	65494288	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aatgcattgtgcatcattggCaccgaggaggcctatgacat	11	9	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:65494288C>A	ENST00000246166.2	+	5	726	c.492C>A	c.(490-492)ggC>ggA	p.G164G	FNTB_ENST00000555742.1_3'UTR|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.G199G|FNTB_ENST00000542227.1_Silent_p.G118G|FNTB_ENST00000447296.2_Silent_p.G198G	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	164					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCATCATTGGCACCGAGGAGG	0.542																																																	0													143	118	126					14																	65494288		2203	4300	6503	SO:0001819	synonymous_variant	100529261				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.492C>A	14.37:g.65494288C>A			B2RDX6|B4E1A0	Silent	SNP	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.G198	ENST00000246166.2	37	c.594	CCDS9769.1	14																																																																																			CHURC1-FNTB	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase		0.542	FNTB-001	KNOWN	basic|CCDS	protein_coding	CHURC1-FNTB	HGNC	protein_coding	OTTHUMT00000286392.1	C	NM_002028		65494288	1	no_errors	ENST00000447296	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65494288	C	A	65494288	2	1	6	1	0	0	0	0	0	0	0	1	5996	697	25	4		4	FNTB	14	65494288	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		65494288	41855252	93	517										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68265155	68265155	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gacctcaaacctgaggggctCttcccctcaatgtcatcatc	7	15	5	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:68265155C>T	ENST00000347230.4	-	11	1962	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	ZFYVE26_ENST00000555452.1_Silent_p.K608K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	608					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGAGGGGCTCTTCCCCTCAA	0.527																																																	0													75	69	71					14																	68265155		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1824G>A	14.37:g.68265155C>T			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.K608	ENST00000347230.4	37	c.1824	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68265155	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.001	T	T	68265155	C	T	68265155	2	4	6	1	0	0	0	0	0	0	0	1	17698	912	32	1		1	ZFYVE26	14	68265155	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	2770867	68265155	39084385	94	518										
ATG2B	55102	genome.wustl.edu	37	chr14	96752136	96752136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctgtgactcgtcttgccggaCatctggcctaatttggtttc	10	11	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:96752136C>A	ENST00000359933.4	-	42	7086	c.6193G>T	c.(6193-6195)Gtc>Ttc	p.V2065F		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2065					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTTGCCGGACATCTGGCCTA	0.537																																																	0													149	113	125					14																	96752136		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6193G>T	14.37:g.96752136C>A	ENSP00000353010:p.Val2065Phe		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.V2065F	ENST00000359933.4	37	c.6193	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	34	5.403194	0.96030	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.76	5.76	0.90799	Autophagy-related, C-terminal (1);	0.058611	0.64402	D	0.000002	T	0.22437	0.0541	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.01301	-1.1391	10	0.54805	T	0.06	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	2065	Q96BY7	ATG2B_HUMAN	F	2065	ENSP00000353010:V2065F	ENSP00000353010:V2065F	V	-	1	0	ATG2B	95821889	1.000000	0.71417	0.975000	0.42487	0.922000	0.55478	7.468000	0.80943	2.713000	0.92767	0.655000	0.94253	GTC	ATG2B	-	pfam_Autophagy-rel_C		0.537	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96752136	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96752136	C	A	96752136	3	1	6	1	0	0	0	0	1	0	0	0	1095	478	17	4	47	4	ATG2B	14	96752136	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	28486981	96752136	10597404	95	519										
HDC	3067	genome.wustl.edu	37	chr15	50546436	50546436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gaaatttcatcttcacaaggGaaatcaaaccagccttttcc	5	11	4	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr15:50546436G>C	ENST00000267845.3	-	6	1013	c.611C>G	c.(610-612)tCc>tGc	p.S204C	HDC_ENST00000543581.1_Missense_Mutation_p.S204C	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTTCACAAGGGAAATCAAACC	0.517																																					GBM(95;1627 1936 6910 9570)												0													68	70	69					15																	50546436		2196	4295	6491	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.611C>G	15.37:g.50546436G>C	ENSP00000267845:p.Ser204Cys			Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.S204C	ENST00000267845.3	37	c.611	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635055	0.67130	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.37752	1.18;1.18	5.17	5.17	0.71159	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.070613	0.64402	D	0.000003	T	0.52741	0.1753	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.47471	-0.9115	10	0.44086	T	0.13	-26.8806	18.8759	0.92334	0.0:0.0:1.0:0.0	.	204;204	B7ZM01;P19113	.;DCHS_HUMAN	C	204	ENSP00000267845:S204C;ENSP00000440252:S204C	ENSP00000267845:S204C	S	-	2	0	HDC	48333728	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.411000	0.97342	2.683000	0.91414	0.655000	0.94253	TCC	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.517	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50546436	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50546436	G	C	50546436	3	2	6	1	0	0	0	0	1	0	0	0	7035	1174	41	1	1405	1	HDC	15	50546436	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		50546436	51984956	96	520										
SEMA4B	10509	genome.wustl.edu	37	chr15	90766915	90766915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gcaggatgtcttcacgctgaGccccagcccccaggactggc	12	16	2	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr15:90766915G>T	ENST00000411539.2	+	8	1246	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SEMA4B_ENST00000332496.6_Missense_Mutation_p.S329I|SEMA4B_ENST00000379122.3_Missense_Mutation_p.S324I	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	324	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TTCACGCTGAGCCCCAGCCCC	0.622																																																	0													35	39	37					15																	90766915		2108	4221	6329	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.986G>T	15.37:g.90766915G>T	ENSP00000394720:p.Ser329Ile		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S329I	ENST00000411539.2	37	c.986	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864912	0.51482	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.11169	2.8;2.8;2.8	5.12	0.876	0.19138	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.493946	0.23422	N	0.048357	T	0.09862	0.0242	L	0.38692	1.165	0.23594	N	0.99733	P;P	0.34909	0.475;0.475	B;B	0.36335	0.222;0.222	T	0.15009	-1.0452	10	0.49607	T	0.09	.	12.5787	0.56378	0.073:0.6:0.327:0.0	.	329;324	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	I	329;324;329	ENSP00000332204:S329I;ENSP00000368417:S324I;ENSP00000394720:S329I	ENSP00000332204:S329I	S	+	2	0	SEMA4B	88567919	0.868000	0.29978	0.995000	0.50966	0.934000	0.57294	0.570000	0.23653	-0.014000	0.14175	0.591000	0.81541	AGC	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.622	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	G	NM_198925		90766915	1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	0.647	T	T	90766915	G	T	90766915	3	4	6	1	0	0	0	0	1	0	0	0	14062	971	34	4	1016	4	SEMA4B	15	90766915	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	40220479	90766915	11764477	97	521										
UNKL	64718	genome.wustl.edu	37	chr16	1420157	1420157	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggctgtaggatgaggctgcaGagcccagtgtgcccggctct	16	11	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:1420157G>C	ENST00000389221.4	-	12	1549	c.1550C>G	c.(1549-1551)tCt>tGt	p.S517C	UNKL_ENST00000248104.7_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.S520C|UNKL_ENST00000402641.2_Missense_Mutation_p.S19C|UNKL_ENST00000397464.1_Missense_Mutation_p.S19C|UNKL_ENST00000403703.1_Missense_Mutation_p.S19C|UNKL_ENST00000391893.2_5'Flank	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	517	Ser-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGAGGCTGCAGAGCCCAGTGT	0.701																																																	0													18	23	21					16																	1420157		1809	3410	5219	SO:0001583	missense	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1550C>G	16.37:g.1420157G>C	ENSP00000373873:p.Ser517Cys		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING	p.S517C	ENST00000389221.4	37	c.1550	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	g	14.59	2.580107	0.46006	.	.	ENSG00000059145	ENST00000389221;ENST00000403703;ENST00000397464;ENST00000402641;ENST00000508903;ENST00000513783	T;T	0.65364	-0.15;-0.15	4.73	4.73	0.59995	.	.	.	.	.	T	0.52092	0.1713	N	0.08118	0	0.80722	D	1	D;P	0.60575	0.988;0.947	P;B	0.50231	0.635;0.436	T	0.62455	-0.6851	9	0.62326	D	0.03	.	15.611	0.76716	0.0:0.0:1.0:0.0	.	517;520	Q9H9P5;E9PDK2	UNKL_HUMAN;.	C	517;19;19;19;520;19	ENSP00000373873:S517C;ENSP00000380606:S19C	ENSP00000373873:S517C	S	-	2	0	UNKL	1360158	1.000000	0.71417	0.900000	0.35374	0.025000	0.11179	7.980000	0.88113	2.349000	0.79799	0.537000	0.68136	TCT	UNKL	-	NULL		0.701	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		G	NM_001037125		1420157	-1	no_errors	ENST00000389221	ensembl	human	known	70_37	missense	SNP	0.998	C	C	1420157	G	C	1420157	3	2	6	1	0	0	0	0	1	0	0	0	17032	942	33	1	658	1	UNKL	16	1420157	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		1420157	88934596	98	522										
PPL	5493	genome.wustl.edu	37	chr16	4936024	4936024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cctattcctttgcagggtctCatgggtcacttctacttccg	8	13	3	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:4936024C>G	ENST00000345988.2	-	22	2721	c.2632G>C	c.(2632-2634)Gag>Cag	p.E878Q	PPL_ENST00000590782.2_Missense_Mutation_p.E876Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	878					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCAGGGTCTCATGGGTCACT	0.572																																																	0													61	63	62					16																	4936024		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2632G>C	16.37:g.4936024C>G	ENSP00000340510:p.Glu878Gln		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E878Q	ENST00000345988.2	37	c.2632	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848997	0.51164	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.19	4.23	0.50019	.	0.492998	0.21462	N	0.074160	T	0.51568	0.1682	L	0.46157	1.445	0.33972	D	0.646918	D	0.63880	0.993	P	0.55713	0.782	T	0.57533	-0.7795	10	0.13853	T	0.58	.	13.61	0.62071	0.0:0.9248:0.0:0.0752	.	878	O60437	PEPL_HUMAN	Q	878	ENSP00000340510:E878Q	ENSP00000340510:E878Q	E	-	1	0	PPL	4876025	0.727000	0.28069	0.032000	0.17829	0.239000	0.25481	1.405000	0.34635	1.185000	0.42971	0.455000	0.32223	GAG	PPL	-	NULL		0.572	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4936024	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.610	G	G	4936024	C	G	4936024	3	3	6	1	0	0	0	0	1	0	0	0	12361	835	29	1	2642	1	PPL	16	4936024	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	3515867	4936024	85418729	99	523										
DNAH3	55567	genome.wustl.edu	37	chr16	20996705	20996705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	atctcaatctggtatagctcGtatgcgttcatgaatgtgga	10	7	3	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:20996705G>A	ENST00000261383.3	-	48	7358	c.7359C>T	c.(7357-7359)taC>taT	p.Y2453Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2453	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Y2453Y(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTATAGCTCGTATGCGTTCA	0.552																																																	2	Substitution - coding silent(2)	lung(2)											63	46	52					16																	20996705		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7359C>T	16.37:g.20996705G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.Y2453	ENST00000261383.3	37	c.7359	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20996705	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.000	A	A	20996705	G	A	20996705	2	1	6	1	0	0	0	0	0	0	0	1	4613	1140	40	2		2	DNAH3	16	20996705	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	16060681	20996705	69358048	100	524										
POLR3E	55718	genome.wustl.edu	37	chr16	22343428	22343428	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tccaaaaattaccgggtacgCcgaaacatgatccagtctcg	8	12	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:22343428C>G	ENST00000299853.5	+	20	2159	c.1992C>G	c.(1990-1992)cgC>cgG	p.R664R	POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000418581.2_Silent_p.R628R|POLR3E_ENST00000359210.4_Intron	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	664					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCGGGTACGCCGAAACATGA	0.393																																																	0													103	101	102					16																	22343428		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1992C>G	16.37:g.22343428C>G			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.R664	ENST00000299853.5	37	c.1992	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.393	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	C	NM_018119		22343428	1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	0.998	G	G	22343428	C	G	22343428	2	3	6	1	0	0	0	0	0	0	0	1	12256	726	26	4		4	POLR3E	16	22343428	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	1346723	22343428	68011325	101	525										
PHKG2	5261	genome.wustl.edu	37	chr16	30768370	30768370	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	atgggccctgaagaggagggAgactctgctgctataactga	14	8	1	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:30768370A>C	ENST00000563588.1	+	10	1412	c.1173A>C	c.(1171-1173)ggA>ggC	p.G391G	PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000328273.7_Silent_p.G395G	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	391					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AAGAGGAGGGAGACTCTGCTG	0.592																																																	0													71	81	78					16																	30768370		2195	4300	6495	SO:0001819	synonymous_variant	5261			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1173A>C	16.37:g.30768370A>C			A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G391	ENST00000563588.1	37	c.1173	CCDS10690.1	16																																																																																			PHKG2	-	NULL		0.592	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	A	NM_000294		30768370	1	no_errors	ENST00000563588	ensembl	human	known	70_37	silent	SNP	0.316	C	C	30768370	A	C	30768370	2	2	6	1	0	0	0	0	0	0	0	1	11871	291	11	5		5	PHKG2	16	30768370	Silent	SNP	A	TCGA-C5-A1BF-01B-11D-A13W-08	8424942	30768370	59586383	102	526										
ITGAX	3687	genome.wustl.edu	37	chr16	31382737	31382737	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctgcgtttgagtgtcgggagCaggtggtctctgagcagacc	16	9	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:31382737C>T	ENST00000268296.4	+	16	2045	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.Q642*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	642					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGTCGGGAGCAGGTGGTCTC	0.587																																																	0													82	62	68					16																	31382737		2197	4300	6497	SO:0001587	stop_gained	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1924C>T	16.37:g.31382737C>T	ENSP00000268296:p.Gln642*		Q8IVA6	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q642*	ENST00000268296.4	37	c.1924	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.604025	0.96626	.	.	ENSG00000140678	ENST00000268296	.	.	.	5.07	0.71	0.18157	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	7.9786	0.30170	0.2991:0.4108:0.2901:0.0	.	.	.	.	X	642	.	ENSP00000268296:Q642X	Q	+	1	0	ITGAX	31290238	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.382000	0.20635	-0.018000	0.14079	0.650000	0.86243	CAG	ITGAX	-	pfam_Integrin_alpha-2		0.587	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31382737	1	no_errors	ENST00000268296	ensembl	human	known	70_37	nonsense	SNP	0.003	T	T	31382737	C	T	31382737	4	4	6	1	0	0	0	0	0	1	0	0	7909	711	25	4	1986	4	ITGAX	16	31382737	Nonsense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	614367	31382737	58972016	103	527										
ITGAE	3682	genome.wustl.edu	37	chr17	3658411	3658411	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tcaggtggccccgccctcacCcaggtagctgtactgcgcag	12	16	2	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:3658411C>T	ENST00000263087.4	-	12	1482	c.1384G>A	c.(1384-1386)Ggt>Agt	p.G462S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	462					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCGCCCTCACCCAGGTAGCTG	0.736																																					NSCLC(182;635 2928 8995 38788)												0													3	4	4					17																	3658411		1890	3790	5680	SO:0001630	splice_region_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1384+1G>A	17.37:g.3658411C>T			Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.G462S	ENST00000263087.4	37	c.1384	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315205	0.81358	.	.	ENSG00000083457	ENST00000263087	T	0.53640	0.61	4.72	4.72	0.59763	.	.	.	.	.	T	0.61048	0.2316	M	0.91818	3.245	0.37385	D	0.912199	P	0.46220	0.874	B	0.43155	0.41	T	0.76130	-0.3072	8	.	.	.	.	15.967	0.79984	0.0:1.0:0.0:0.0	.	462	P38570	ITAE_HUMAN	S	462	ENSP00000263087:G462S	.	G	-	1	0	ITGAE	3605160	0.997000	0.39634	1.000000	0.80357	0.833000	0.47200	4.279000	0.58953	2.548000	0.85928	0.609000	0.83330	GGT	ITGAE	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.736	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	C	NM_002208	Missense_Mutation	3658411	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3658411	C	T	3658411	5	4	6	1	0	0	0	0	0	0	1	0	7905	637	22	4	2235	4	ITGAE	17	3658411	Splice_Site	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		3658411	77536799	104	528										
NLRP1	22861	genome.wustl.edu	37	chr17	5424312	5424312	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	attcgcacaaactggaatttCatttctagatcatctatggc	6	9	4	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:5424312C>A	ENST00000572272.1	-	14	3803	c.3804G>T	c.(3802-3804)atG>atT	p.M1268I	NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.M1272I|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.M1238I|NLRP1_ENST00000269280.4_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1268					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACTGGAATTTCATTTCTAGAT	0.498																																																	0													90	81	84					17																	5424312		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3804G>T	17.37:g.5424312C>A	ENSP00000460475:p.Met1268Ile		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.M1268I	ENST00000572272.1	37	c.3804	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	1.367	-0.587110	0.03827	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T	0.17370	2.28;2.28;2.28	4.59	-0.969	0.10310	.	1.259020	0.05922	N	0.633651	T	0.14313	0.0346	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26602	0.054;0.067;0.154	B;B;B	0.27380	0.047;0.079;0.079	T	0.36939	-0.9727	10	0.37606	T	0.19	.	3.3886	0.07281	0.1781:0.4249:0.0:0.397	.	1238;1268;1272	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	I	1272;1272;1268;1238	ENSP00000442029:M1272I;ENSP00000262467:M1272I;ENSP00000346390:M1238I	ENSP00000262467:M1272I	M	-	3	0	NLRP1	5365036	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	-0.065000	0.11617	0.009000	0.14813	-0.151000	0.13558	ATG	NLRP1	-	NULL		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5424312	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.021	A	A	5424312	C	A	5424312	3	1	6	1	0	0	0	0	1	0	0	0	10495	826	29	3	696	3	NLRP1	17	5424312	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	1765901	5424312	75770898	105	529										
NLRP1	22861	genome.wustl.edu	37	chr17	5485360	5485360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggggagcttggaagagcttgGtagaggagtgaggcagagat	20	3	0	4	rs201548084		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:5485360G>A	ENST00000572272.1	-	3	470	c.471C>T	c.(469-471)taC>taT	p.Y157Y	NLRP1_ENST00000577119.1_Silent_p.Y157Y|NLRP1_ENST00000262467.5_Silent_p.Y157Y|NLRP1_ENST00000345221.3_Silent_p.Y157Y|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.Y157Y|NLRP1_ENST00000269280.4_Silent_p.Y157Y			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAGAGCTTGGTAGAGGAGTG	0.483																																																	0													35	39	38					17																	5485360		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.471C>T	17.37:g.5485360G>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Y157	ENST00000572272.1	37	c.471	CCDS42246.1	17																																																																																			NLRP1	-	NULL		0.483	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5485360	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	silent	SNP	0.012	A	A	5485360	G	A	5485360	2	1	6	1	0	0	0	0	0	0	0	1	10495	1256	44	4		4	NLRP1	17	5485360	Silent	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	61048	5485360	75709850	106	530										
NEURL4	84461	genome.wustl.edu	37	chr17	7227237	7227237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttactgccgtgcagctgatgGaagcgcaggtcagagccccc	13	13	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:7227237G>T	ENST00000399464.2	-	12	2172	c.2157C>A	c.(2155-2157)ttC>ttA	p.F719L	NEURL4_ENST00000570460.1_Missense_Mutation_p.F697L|NEURL4_ENST00000315614.7_Missense_Mutation_p.F719L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	719	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCTGATGGAAGCGCAGGT	0.612											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	76	72					17																	7227237		2061	4192	6253	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2157C>A	17.37:g.7227237G>T	ENSP00000382390:p.Phe719Leu	640	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.F719L	ENST00000399464.2	37	c.2157	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489823	0.84962	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.53857	0.6;0.6	5.7	2.61	0.31194	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.87617	2.895	0.42369	D	0.992448	D;D	0.76494	0.999;0.992	D;D	0.80764	0.994;0.987	T	0.75903	-0.3153	10	0.87932	D	0	-20.8528	10.4171	0.44329	0.2203:0.0:0.7797:0.0	.	719;719	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	L	719	ENSP00000319826:F719L;ENSP00000382390:F719L	ENSP00000319826:F719L	F	-	3	2	NEURL4	7167961	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.698000	0.47068	0.763000	0.33175	0.655000	0.94253	TTC	NEURL4	-	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z		0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	G	NM_032442		7227237	-1	no_errors	ENST00000399464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7227237	G	T	7227237	3	4	6	1	0	0	0	0	1	0	0	0	10371	1165	41	3	2603	3	NEURL4	17	7227237	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	1741877	7227237	73967973	107	531										
USP43	124739	genome.wustl.edu	37	chr17	9590226	9590226	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	aagagtgaggcccctgtacaGgtcagtggtgtgcatgcgtg	16	8	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:9590226G>T	ENST00000285199.7	+	8	1449	c.1353G>T	c.(1351-1353)caG>caT	p.Q451H	USP43_ENST00000570475.1_Splice_Site_p.Q451H|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	451	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCCTGTACAGGTCAGTGgtg	0.557																																																	0													52	51	52					17																	9590226		2065	4200	6265	SO:0001630	splice_region_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1353+1G>T	17.37:g.9590226G>T			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q451H	ENST00000285199.7	37	c.1353	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715268	0.89112	.	.	ENSG00000154914	ENST00000285199	T	0.11169	2.8	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.353120	0.26800	N	0.022431	T	0.14960	0.0361	N	0.25890	0.77	0.58432	D	0.99999	P;P;P	0.45715	0.818;0.865;0.541	P;P;P	0.49953	0.627;0.593;0.463	T	0.01004	-1.1484	10	0.46703	T	0.11	-27.7161	16.6254	0.84969	0.0:0.0:1.0:0.0	.	451;140;451	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	H	451	ENSP00000285199:Q451H	ENSP00000285199:Q451H	Q	+	3	2	USP43	9530951	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.444000	0.66587	2.788000	0.95919	0.650000	0.86243	CAG	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.557	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	G	NM_153210	Missense_Mutation	9590226	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9590226	G	T	9590226	5	4	6	1	0	0	0	0	0	0	1	0	17105	1014	35	4	1383	4	USP43	17	9590226	Splice_Site	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	2362989	9590226	71604984	108	532										
DNAH9	1770	genome.wustl.edu	37	chr17	11593113	11593113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctgggagaccacaccctggaGgaatatcaacgtggaagcca	12	11	1	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:11593113G>T	ENST00000262442.4	+	20	4042	c.3974G>T	c.(3973-3975)aGg>aTg	p.R1325M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1325M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1325	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACACCCTGGAGGAATATCAAC	0.572																																																	0													49	43	45					17																	11593113		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3974G>T	17.37:g.11593113G>T	ENSP00000262442:p.Arg1325Met		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1325M	ENST00000262442.4	37	c.3974	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408423	0.42715	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61274	0.12;0.12	5.73	-7.61	0.01299	Dynein heavy chain, domain-2 (1);	0.692596	0.13927	N	0.353171	T	0.61974	0.2390	M	0.77406	2.37	0.26559	N	0.973776	P	0.41947	0.766	P	0.53912	0.737	T	0.61217	-0.7107	10	0.52906	T	0.07	.	7.4696	0.27340	0.5247:0.0:0.2135:0.2619	.	1325	Q9NYC9	DYH9_HUMAN	M	1325	ENSP00000262442:R1325M;ENSP00000414874:R1325M	ENSP00000262442:R1325M	R	+	2	0	DNAH9	11533838	0.102000	0.21896	0.001000	0.08648	0.570000	0.35934	-0.255000	0.08769	-1.621000	0.01562	0.655000	0.94253	AGG	DNAH9	-	pfam_Dynein_heavy_dom-2		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11593113	1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	0.005	T	T	11593113	G	T	11593113	3	4	6	1	0	0	0	0	1	0	0	0	4618	1000	35	4	4052	4	DNAH9	17	11593113	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	2002887	11593113	69602097	109	533										
MAPK7	5598	genome.wustl.edu	37	chr17	19286539	19286539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	acctgcctgacctccaggacCcctgaggcccccagcctgtg	10	19	0	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:19286539C>T	ENST00000308406.5	+	7	2832	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	MAPK7_ENST00000395602.4_Missense_Mutation_p.P816S|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.P677S|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.P816S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	816					cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCCAGGACCCCTGAGGCCC	0.602																																																	0													44	43	43					17																	19286539		2203	4300	6503	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2446C>T	17.37:g.19286539C>T	ENSP00000311005:p.Pro816Ser		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	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.P816S	ENST00000308406.5	37	c.2446	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426649	0.62733	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76968	-0.81;-1.06;-0.81;-0.81	4.91	2.92	0.33932	.	0.287525	0.35151	N	0.003416	T	0.67552	0.2905	L	0.51422	1.61	0.26354	N	0.977155	B	0.02656	0.0	B	0.01281	0.0	T	0.61187	-0.7113	10	0.87932	D	0	.	4.5348	0.12022	0.1752:0.6377:0.0:0.1871	.	816	Q13164	MK07_HUMAN	S	816;677;816;816	ENSP00000311005:P816S;ENSP00000299612:P677S;ENSP00000378968:P816S;ENSP00000378966:P816S	ENSP00000299612:P677S	P	+	1	0	MAPK7	19227132	0.842000	0.29525	0.997000	0.53966	0.989000	0.77384	0.321000	0.19558	0.487000	0.27698	0.491000	0.48974	CCC	MAPK7	-	NULL		0.602	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19286539	1	no_errors	ENST00000308406	ensembl	human	known	70_37	missense	SNP	0.998	T	T	19286539	C	T	19286539	3	4	6	1	0	0	0	0	1	0	0	0	9305	623	22	4	2468	4	MAPK7	17	19286539	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	7693426	19286539	61908671	110	534										
RFFL	117584	genome.wustl.edu	37	chr17	33348478	33348478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gtgaggtaggtggaaccatgCtggagtgaggctgggtcagg	20	5	1	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:33348478C>A	ENST00000315249.7	-	3	725	c.503G>T	c.(502-504)aGc>aTc	p.S168I	RFFL_ENST00000268850.7_Missense_Mutation_p.S168I|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.S168I|RFFL_ENST00000394597.2_Missense_Mutation_p.S168I|RFFL_ENST00000378516.2_Missense_Mutation_p.S168I|RFFL_ENST00000447669.2_Missense_Mutation_p.S168I|RFFL_ENST00000415395.2_Missense_Mutation_p.S168I|RFFL_ENST00000413582.2_Missense_Mutation_p.S168I					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGAACCATGCTGGAGTGAGG	0.602																																																	0													81	64	70					17																	33348478		2203	4300	6503	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.503G>T	17.37:g.33348478C>A	ENSP00000326170:p.Ser168Ile			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.S168I	ENST00000315249.7	37	c.503	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	C	6.636	0.485862	0.12641	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.83;0.82;0.82	5.65	4.68	0.58851	.	0.302431	0.41097	D	0.000945	T	0.47673	0.1458	L	0.34521	1.04	0.50313	D	0.999865	P;B;B;P	0.45212	0.853;0.078;0.121;0.853	P;B;B;P	0.51777	0.679;0.049;0.063;0.558	T	0.41142	-0.9525	10	0.38643	T	0.18	-17.3275	12.1322	0.53950	0.0:0.9222:0.0:0.0778	.	168;168;168;168	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	I	168	ENSP00000326170:S168I;ENSP00000378096:S168I;ENSP00000367777:S168I;ENSP00000268850:S168I;ENSP00000408513:S168I;ENSP00000412322:S168I	ENSP00000268850:S168I	S	-	2	0	RFFL	30372591	1.000000	0.71417	0.988000	0.46212	0.100000	0.18952	1.773000	0.38563	1.632000	0.50472	-0.140000	0.14226	AGC	RFFL	-	NULL		0.602	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	C	NM_057178		33348478	-1	no_errors	ENST00000315249	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33348478	C	A	33348478	3	1	6	1	0	0	0	0	1	0	0	0	13280	797	28	4	608	4	RFFL	17	33348478	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	14061939	33348478	47846732	111	535										
QRICH2	84074	genome.wustl.edu	37	chr17	74288410	74288410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgcaccaggttgcaccaaacCacgctgaactataccaggtt	8	13	0	1	rs80109605		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:74288410C>T	ENST00000262765.5	-	4	2079	c.1900G>A	c.(1900-1902)Ggt>Agt	p.G634S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	634	Gln-rich.							p.I630_G639delIVQRGLVQPG(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						tgcaccaaaccacgctgaact	0.527																																																	3	Deletion - In frame(3)	stomach(3)											68	85	79					17																	74288410		2201	4298	6499	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1900G>A	17.37:g.74288410C>T	ENSP00000262765:p.Gly634Ser		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.G634S	ENST00000262765.5	37	c.1900	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323061	0.24080	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.23950	1.88	5.11	1.94	0.25998	.	.	.	.	.	T	0.38878	0.1057	M	0.84082	2.675	0.80722	P	0.0	P;P	0.51537	0.946;0.897	P;P	0.50314	0.637;0.485	T	0.56007	-0.8050	8	0.44086	T	0.13	-8.3819	9.1736	0.37098	0.0:0.7577:0.0:0.2423	.	634;634	B5MD94;Q9H0J4	.;QRIC2_HUMAN	S	634	ENSP00000262765:G634S	ENSP00000262765:G634S	G	-	1	0	QRICH2	71800005	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	0.238000	0.18004	1.089000	0.41292	0.555000	0.69702	GGT	QRICH2	-	NULL		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	C	NM_032134		74288410	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.007	T	T	74288410	C	T	74288410	3	4	6	1	0	0	0	0	1	0	0	0	12910	594	21	4	3155	4	QRICH2	17	74288410	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	40939932	74288410	6906800	112	536										
ZCCHC2	54877	genome.wustl.edu	37	chr18	60191315	60191315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cgcggggcggcgcggaggacGagcgcggcgaggacggcgac	23	12	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr18:60191315G>A	ENST00000269499.5	+	1	1076	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	220						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						cgcggAGGACGAGCGCGGCGA	0.771																																																	0													5	7	6					18																	60191315		668	1530	2198	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.658G>A	18.37:g.60191315G>A	ENSP00000269499:p.Glu220Lys		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E220K	ENST00000269499.5	37	c.658	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843281	0.71488	.	.	ENSG00000141664	ENST00000269499	T	0.03745	3.82	3.38	0.157	0.14915	.	.	.	.	.	T	0.02848	0.0085	L	0.36672	1.1	0.80722	D	1	B	0.29612	0.251	B	0.12837	0.008	T	0.51132	-0.8744	9	0.42905	T	0.14	.	6.8019	0.23756	0.0981:0.3378:0.5641:0.0	.	220	Q9C0B9	ZCHC2_HUMAN	K	220	ENSP00000269499:E220K	ENSP00000269499:E220K	E	+	1	0	ZCCHC2	58342295	0.759000	0.28416	0.995000	0.50966	0.994000	0.84299	2.059000	0.41384	0.134000	0.18681	0.478000	0.44815	GAG	ZCCHC2	-	NULL		0.771	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	G	NM_017742		60191315	1	no_errors	ENST00000269499	ensembl	human	known	70_37	missense	SNP	0.986	A	A	60191315	G	A	60191315	3	1	6	1	0	0	0	0	1	0	0	0	17617	1059	37	1	660	1	ZCCHC2	18	60191315	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		60191315	17885933	113	537										
ODF3L2	284451	genome.wustl.edu	37	chr19	474621	474621	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cccccacggctggcacgcacCgttctccagggtggccgtcc	12	19	1	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:474621C>A	ENST00000315489.4	-	1	362	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	ODF3L2_ENST00000382696.3_Splice_Site_p.A43S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	43						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TGGCACGCACCGTTCTCCAGG	0.672																																																	0													27	28	27					19																	474621		2203	4299	6502	SO:0001630	splice_region_variant	284451			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.127+1G>T	19.37:g.474621C>A			Q3SX65|Q8N1L2	Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.G43C	ENST00000315489.4	37	c.127	CCDS12027.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.674846|3.674846	0.67928|0.67928	.|.	.|.	ENSG00000181781|ENSG00000181781	ENST00000382696|ENST00000315489	T|D	0.45668|0.93953	0.89|-3.32	3.21|3.21	3.21|3.21	0.36854|0.36854	.|.	.|0.561389	.|0.18901	.|U	.|0.128022	D|D	0.95085|0.95085	0.8408|0.8408	M|M	0.64630|0.64630	1.985|1.985	0.22171|0.22171	N|N	0.999319|0.999319	B|D	0.33694|0.89917	0.421|1.0	B|D	0.29077|0.97110	0.098|1.0	D|D	0.87852|0.87852	0.2658|0.2658	8|9	.|.	.|.	.|.	-19.2517|-19.2517	10.0571|10.0571	0.42252|0.42252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	43|43	Q3SX64-2|Q3SX64	.|OD3L2_HUMAN	S|C	43|43	ENSP00000372143:A43S|ENSP00000318029:G43C	.|.	A|G	-|-	1|1	0|0	ODF3L2|ODF3L2	425621|425621	0.845000|0.845000	0.29573|0.29573	0.312000|0.312000	0.25196|0.25196	0.506000|0.506000	0.33950|0.33950	1.769000|1.769000	0.38522|0.38522	1.793000|1.793000	0.52555|0.52555	0.561000|0.561000	0.74099|0.74099	GCA|GGC	ODF3L2	-	NULL		0.672	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2	C	NM_182577	Missense_Mutation	474621	-1	no_errors	ENST00000315489	ensembl	human	known	70_37	missense	SNP	0.398	A	A	474621	C	A	474621	5	1	6	1	0	0	0	0	0	0	1	0	10856	666	23	2	758	2	ODF3L2	19	474621	Splice_Site	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08		474621	58654362	114	538										
POLRMT	5442	genome.wustl.edu	37	chr19	617576	617576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agggagcgccttactcagagCagaaccgcttgaccaggaat	12	11	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:617576C>A	ENST00000588649.2	-	19	3659	c.3575G>T	c.(3574-3576)tGc>tTc	p.C1192F	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1192	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTCAGAGCAGAACCGCTT	0.637																																																	0													42	41	41					19																	617576		2203	4300	6503	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3575G>T	19.37:g.617576C>A	ENSP00000465759:p.Cys1192Phe		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.C1207F	ENST00000588649.2	37	c.3620	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	17.14	3.314140	0.60414	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	3.58	3.58	0.41010	.	0.053054	0.85682	D	0.000000	T	0.57110	0.2031	L	0.55990	1.75	0.53005	D	0.999961	D	0.58970	0.984	D	0.67900	0.954	T	0.61451	-0.7060	10	0.59425	D	0.04	-33.822	14.3638	0.66792	0.0:1.0:0.0:0.0	.	1192	O00411	RPOM_HUMAN	F	1192	ENSP00000215591:C1192F	ENSP00000215591:C1192F	C	-	2	0	POLRMT	568576	1.000000	0.71417	0.609000	0.28983	0.016000	0.09150	4.533000	0.60615	1.842000	0.53543	0.486000	0.48141	TGC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	C	NM_005035		617576	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	1.000	A	A	617576	C	A	617576	3	1	6	1	0	0	0	0	1	0	0	0	12262	710	25	4	129	4	POLRMT	19	617576	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	142955	617576	58511407	115	539										
GRIN3B	116444	genome.wustl.edu	37	chr19	1008188	1008188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccgctcacctccaacctgtcCgagttcatcagccgctacaa	6	18	3	0	rs571283387		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:1008188C>T	ENST00000234389.3	+	6	2383	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	788					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAACCTGTCCGAGTTCATCA	0.647													-|||	1	0.000199681	0	0.0014	5008	,	,		6873	0		0	False		,,,				2504	0																0													54	38	44					19																	1008188		2198	4297	6495	SO:0001819	synonymous_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2364C>T	19.37:g.1008188C>T			Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S788	ENST00000234389.3	37	c.2364	CCDS32861.1	19																																																																																			GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.647	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	C			1008188	1	no_errors	ENST00000234389	ensembl	human	known	70_37	silent	SNP	0.791	T	T	1008188	C	T	1008188	2	4	6	1	0	0	0	0	0	0	0	1	6804	639	23	2		2	GRIN3B	19	1008188	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	390612	1008188	58120795	116	540										
STK11	6794	genome.wustl.edu	37	chr19	1207060	1207061	+	Frame_Shift_Ins	INS	-	-	TGATGGGG													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	caagctcatcggcaagtaccINStgatgggggacctgctgggg					rs587783061		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:1207060_1207061insTGATGGGG	ENST00000326873.7	+	1	1321_1322	c.148_149insTGATGGGG	c.(148-150)ctgfs	p.-52fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.L50_D53del(1)|p.A43_L50del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAAGTACCTGATGGGGGAC	0.614		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	25	Whole gene deletion(20)|Deletion - In frame(2)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(5)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)																																								SO:0001589	frameshift_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.149_156dupTGATGGGG	19.37:g.1207061_1207068dupTGATGGGG	ENSP00000324856:p.Gly52fs		B2RBX7|E7EW76	Frame_Shift_Ins	INS	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.D53fs	ENST00000326873.7	37	c.148_149	CCDS45896.1	19																																																																																			STK11	-	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		0.614	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	NM_000455		1207061	1	no_errors	ENST00000326873	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TGATGGGG	TGATGGGG	1207061	-	TGATGGGG	1207060	7	5	6	1	0	1	1	0	0	0	0	0	15317	680	24	0	150	0	STK11	19	1207060	Frame_Shift_Ins	INS	-	TCGA-C5-A1BF-01B-11D-A13W-08	198872	1207060	57921923	117	541										
AP3D1	8943	genome.wustl.edu	37	chr19	2120979	2120979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cgcagacatctgggacacggCgaacttgcggatggccttca	13	12	2	1	rs200459002	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:2120979C>A	ENST00000345016.5	-	14	1594	c.1363G>T	c.(1363-1365)Gcc>Tcc	p.A455S	AP3D1_ENST00000356926.4_Missense_Mutation_p.A364S|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000350812.6_Missense_Mutation_p.A286S|AP3D1_ENST00000355272.6_Missense_Mutation_p.A455S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	455					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACGGCGAACTTGCGG	0.662																																																	0													55	62	60					19																	2120979		2193	4278	6471	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1363G>T	19.37:g.2120979C>A	ENSP00000344055:p.Ala455Ser		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.A455S	ENST00000345016.5	37	c.1363	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691338	0.68271	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.57	4.57	0.56435	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.37750	1.13	0.80722	D	1	P;B;P	0.39116	0.66;0.434;0.553	B;B;B	0.41764	0.327;0.325;0.366	T	0.05099	-1.0906	10	0.33141	T	0.24	-29.5283	16.3169	0.82931	0.0:1.0:0.0:0.0	.	455;455;364	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	S	364;455;455;455;286	ENSP00000349398:A364S;ENSP00000344055:A455S;ENSP00000347416:A455S;ENSP00000342321:A286S	ENSP00000341579:A455S	A	-	1	0	AP3D1	2071979	1.000000	0.71417	0.143000	0.22291	0.729000	0.41735	7.648000	0.83479	2.103000	0.63969	0.462000	0.41574	GCC	AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	C			2120979	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	missense	SNP	0.999	A	A	2120979	C	A	2120979	3	1	6	1	0	0	0	0	1	0	0	0	746	768	27	2	2324	2	AP3D1	19	2120979	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	913919	2120979	57008004	118	542										
SIRT6	51548	genome.wustl.edu	37	chr19	4174895	4174895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	caggtgcttcatgagccgggTcatgacctcgtcaacgtagc	12	12	3	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:4174895T>G	ENST00000337491.2	-	8	851	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	SIRT6_ENST00000381935.3_Missense_Mutation_p.T191P|SIRT6_ENST00000601488.1_Nonstop_Mutation_p.*188C|SIRT6_ENST00000594279.1_Nonstop_Mutation_p.*177C|SIRT6_ENST00000305232.6_Missense_Mutation_p.T236P	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	263	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGCCGGGTCATGACCTCG	0.716																																																	0													21	19	20					19																	4174895		2186	4277	6463	SO:0001583	missense	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.787A>C	19.37:g.4174895T>G	ENSP00000337332:p.Thr263Pro		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.T263P	ENST00000337491.2	37	c.787	CCDS12122.1	19	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335017	0.24253	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.15017	2.46;2.46;2.46	4.28	0.196	0.15159	.	0.562395	0.19454	N	0.113870	T	0.07413	0.0187	N	0.11255	0.115	0.30212	N	0.797636	B;B	0.28026	0.17;0.198	B;B	0.31101	0.124;0.058	T	0.25916	-1.0118	10	0.28530	T	0.3	-13.3187	4.895	0.13746	0.1485:0.2023:0.0:0.6492	.	236;263	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	P	263;236;191	ENSP00000337332:T263P;ENSP00000305310:T236P;ENSP00000371360:T191P	ENSP00000305310:T236P	T	-	1	0	SIRT6	4125895	0.529000	0.26322	0.321000	0.25320	0.545000	0.35147	0.739000	0.26173	0.059000	0.16252	0.379000	0.24179	ACC	SIRT6	-	pfscan_Ssirtuin_cat_dom		0.716	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT6	HGNC	protein_coding	OTTHUMT00000457931.2	T			4174895	-1	no_errors	ENST00000337491	ensembl	human	known	70_37	missense	SNP	0.474	G	G	4174895	T	G	4174895	3	3	6	1	0	0	0	0	1	0	0	0	14372	1667	58	5	284	5	SIRT6	19	4174895	Missense_Mutation	SNP	T	TCGA-C5-A1BF-01B-11D-A13W-08	2053916	4174895	54954088	119	543										
C3	718	genome.wustl.edu	37	chr19	6713311	6713311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccggctcagcacaacctcccCcgagccatcctcaatctgag	7	19	3	1			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:6713311C>A	ENST00000245907.6	-	9	984	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	298					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACAACCTCCCCCGAGCCATCC	0.632																																																	0													36	35	36					19																	6713311		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.892G>T	19.37:g.6713311C>A	ENSP00000245907:p.Gly298Trp		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G298W	ENST00000245907.6	37	c.892	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445952	0.63178	.	.	ENSG00000125730	ENST00000245907	T	0.38722	1.12	5.04	4.01	0.46588	.	0.173442	0.49916	D	0.000133	T	0.68860	0.3047	M	0.92604	3.325	0.40213	D	0.977642	D	0.89917	1.0	D	0.91635	0.999	T	0.75587	-0.3266	10	0.66056	D	0.02	.	10.0397	0.42151	0.0:0.9041:0.0:0.0959	.	298	P01024	CO3_HUMAN	W	298	ENSP00000245907:G298W	ENSP00000245907:G298W	G	-	1	0	C3	6664311	0.188000	0.23250	0.224000	0.23877	0.003000	0.03518	2.267000	0.43329	2.352000	0.79861	0.484000	0.47621	GGG	C3	-	NULL		0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6713311	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.906	A	A	6713311	C	A	6713311	3	1	6	1	0	0	0	0	1	0	0	0	2209	623	22	4	4231	4	C3	19	6713311	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	2538416	6713311	52415672	120	544										
EVI5L	115704	genome.wustl.edu	37	chr19	7911452	7911452	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gcgagccccactctgagcccCgactcctcatcccaggaggc	10	19	2	1	rs201270758		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:7911452C>A	ENST00000270530.4	+	2	220	c.24C>A	c.(22-24)ccC>ccA	p.P8P	EVI5L_ENST00000538904.2_Silent_p.P8P	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	8					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCTGAGCCCCGACTCCTCAT	0.662																																																	0													46	47	47					19																	7911452		2203	4299	6502	SO:0001819	synonymous_variant	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.24C>A	19.37:g.7911452C>A			B9A6I9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P8	ENST00000270530.4	37	c.24	CCDS12188.1	19																																																																																			EVI5L	-	NULL		0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	C	NM_145245		7911452	1	no_errors	ENST00000538904	ensembl	human	known	70_37	silent	SNP	0.433	A	A	7911452	C	A	7911452	2	1	6	1	0	0	0	0	0	0	0	1	5302	639	23	2		2	EVI5L	19	7911452	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	1198141	7911452	51217531	121	545										
CHERP	10523	genome.wustl.edu	37	chr19	16643447	16643447	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ttgatcaggtagatgaggtgCagccgcagctcgaagtgtgc	15	8	1	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:16643447C>A	ENST00000198939.6	-	5	672	c.636G>T	c.(634-636)ctG>ctT	p.L212L	CHERP_ENST00000546361.2_Silent_p.L212L|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGATGAGGTGCAGCCGCAGCT	0.652																																																	0													51	60	57					19																	16643447		2173	4274	6447	SO:0001819	synonymous_variant	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.636G>T	19.37:g.16643447C>A				Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.L212	ENST00000198939.6	37	c.636		19																																																																																			CHERP	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS		0.652	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	C	NM_006387		16643447	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16643447	C	A	16643447	2	1	6	1	0	0	0	0	0	0	0	1	3341	697	25	4		4	CHERP	19	16643447	Silent	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	8731995	16643447	42485536	122	546										
ZNF283	284349	genome.wustl.edu	37	chr19	44351765	44351765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gctcaagccttgctaaacatGagataattcatacaggtgag	9	8	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:44351765G>C	ENST00000324461.7	+	7	1309	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.E199Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGCTAAACATGAGATAATTCA	0.398																																																	0													52	60	57					19																	44351765		2151	4274	6425	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1012G>C	19.37:g.44351765G>C	ENSP00000327314:p.Glu338Gln		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E338Q	ENST00000324461.7	37	c.1012	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042981	0.01997	.	.	ENSG00000167637	ENST00000324461	T	0.51817	0.69	3.0	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	N	0.12611	0.24	0.80722	D	1	B	0.21905	0.062	B	0.23716	0.048	T	0.14090	-1.0485	9	0.02654	T	1	.	8.2222	0.31547	0.0:0.4077:0.5923:0.0	.	338	Q8N7M2	ZN283_HUMAN	Q	338	ENSP00000327314:E338Q	ENSP00000327314:E338Q	E	+	1	0	ZNF283	49043605	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.289000	0.08365	1.690000	0.51089	0.563000	0.77884	GAG	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44351765	1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.994	C	C	44351765	G	C	44351765	3	2	6	1	0	0	0	0	1	0	0	0	17850	1291	45	1	1026	1	ZNF283	19	44351765	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	27708318	44351765	14777218	123	547										
DOPEY2	9980	genome.wustl.edu	37	chr21	37664501	37664501	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgcaaaccccacactgtcagGattctagaacttctaaaatt	5	11	3	1	rs9978057	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr21:37664501G>C	ENST00000399151.3	+	36	6700	c.6615G>C	c.(6613-6615)agG>agC	p.R2205S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2205					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.R2205R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACACTGTCAGGATTCTAGAAC	0.428																																																	1	Substitution - coding silent(1)	stomach(1)											86	86	86					21																	37664501		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6615G>C	21.37:g.37664501G>C	ENSP00000382104:p.Arg2205Ser		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.R2205S	ENST00000399151.3	37	c.6615	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484591	0.63962	.	.	ENSG00000142197	ENST00000399151	T	0.44881	0.91	4.75	3.85	0.44370	.	0.173042	0.50627	D	0.000111	T	0.52289	0.1725	M	0.85041	2.73	0.43761	D	0.996277	P;P	0.44521	0.837;0.749	P;B	0.49999	0.628;0.424	T	0.58629	-0.7603	10	0.66056	D	0.02	.	5.0181	0.14347	0.3054:0.0:0.6946:0.0	.	2198;2205	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	S	2205	ENSP00000382104:R2205S	ENSP00000382104:R2205S	R	+	3	2	DOPEY2	36586371	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.953000	0.40352	2.356000	0.79943	0.655000	0.94253	AGG	DOPEY2	-	NULL		0.428	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37664501	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.999	C	C	37664501	G	C	37664501	3	2	6	1	0	0	0	0	1	0	0	0	4718	1165	41	1	6753	1	DOPEY2	21	37664501	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		37664501	10465394	124	548										
SUSD2	56241	genome.wustl.edu	37	chr22	24579157	24579158	+	Missense_Mutation	DNP	GA	GA	TC													0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ggagatattgccctactcagGatccatgatgggcggcaagg					rs201628954|rs200945728		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:24579157_24579158GA>TC	ENST00000358321.3	+	2	470_471	c.209_210GA>TC	c.(208-210)gGA>gTC	p.G70V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	70					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G70>?(4)|p.G70fs*28(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCTACTCAGGATCCATGATGG	0.624																																																	5	Complex(4)|Deletion - Frameshift(1)	skin(2)|ovary(1)|NS(1)|lung(1)																																								SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	Exception_encountered	22.37:g.24579157_24579158delinsTC	ENSP00000351075:p.Gly70Val		Q9H5Y6	Missense_Mutation|Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.G70V|p.G70	ENST00000358321.3	37	c.209|c.210	CCDS13824.1	22																																																																																			SUSD2	-	superfamily_Ig_E-set		0.624	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	G|A	NM_019601		24579157|24579158	1	no_errors	ENST00000358321	ensembl	human	known	70_37	missense|silent	SNP	1.000|0.995	T|C	TC	24579158	GA	TC	24579157	3	4	6	1	0	0	0	0	1	0	0	0	15438	1174	41	3	215	3	SUSD2	22	24579157	Missense_Mutation	DNP	GA	TCGA-C5-A1BF-01B-11D-A13W-08		24579157	26725409	125	549										
CYTSA	23384	genome.wustl.edu	37	chr22	24724888	24724888	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	cactccacagaagacttcggGtaggataaatcttcatgtat	8	9	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:24724888G>T	ENST00000314328.9	+	7	2505		c.e7+1		SPECC1L-ADORA2A_ENST00000358654.2_Splice_Site|SPECC1L_ENST00000541492.1_Splice_Site|SPECC1L_ENST00000437398.1_Splice_Site	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like						actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGACTTCGGGTAGGATAAAT	0.348																																																	0													95	93	94					22																	24724888		2203	4300	6503	SO:0001630	splice_region_variant	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2220+1G>T	22.37:g.24724888G>T			B7Z758|F5H1H6|O15081	Splice_Site	SNP	-	e5+1	ENST00000314328.9	37	c.2220+1	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929132	0.92389	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPECC1L	23054888	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.140000	0.94607	2.771000	0.95319	0.650000	0.86243	.	SPECC1L	-	-		0.348	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	G	NM_015330	Intron	24724888	1	no_errors	ENST00000314328	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	24724888	G	T	24724888	5	4	6	1	0	0	0	0	0	0	1	0	4214	1275	44	4	2239	4	CYTSA	22	24724888	Splice_Site	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	145731	24724888	26579678	126	550										
PATZ1	23598	genome.wustl.edu	37	chr22	31741282	31741282	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	gatagtgtgcatctccagctCccggctgcccccggccccgc	11	19	1	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31741282C>G	ENST00000266269.5	-	1	936	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.E103Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.E103Q|PATZ1_ENST00000215919.3_Missense_Mutation_p.E103Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATCTCCAGCTCCCGGCTGCCC	0.667																																																	0													34	36	35					22																	31741282		2203	4300	6503	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.307G>C	22.37:g.31741282C>G	ENSP00000266269:p.Glu103Gln		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E103Q	ENST00000266269.5	37	c.307	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749740	0.89753	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.42	4.42	0.53409	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.290763	0.33515	N	0.004827	T	0.75162	0.3812	L	0.39326	1.205	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.994;0.996;0.994	T	0.76759	-0.2841	10	0.49607	T	0.09	-21.4514	16.0241	0.80528	0.0:1.0:0.0:0.0	.	103;103;103;103	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	Q	103	ENSP00000266269:E103Q;ENSP00000384173:E103Q;ENSP00000337520:E103Q;ENSP00000215919:E103Q	ENSP00000215919:E103Q	E	-	1	0	PATZ1	30071282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	1.997000	0.58415	0.561000	0.74099	GAG	PATZ1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.667	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	C	NM_032052		31741282	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31741282	C	G	31741282	3	3	6	1	0	0	0	0	1	0	0	0	11500	864	30	1	2059	1	PATZ1	22	31741282	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	7016394	31741282	19563284	127	551										
EIF4ENIF1	56478	genome.wustl.edu	37	chr22	31859712	31859712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ctctctcggtctctgtctctCaagtcccgcaggtccttatc	7	16	4	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31859712C>G	ENST00000397525.1	-	5	763	c.540G>C	c.(538-540)ttG>ttC	p.L180F	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L180F|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L180F|RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	180	Arg-rich.					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)			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						CTCTGTCTCTCAAGTCCCGCA	0.463																																																	0													67	68	67					22																	31859712		2203	4300	6503	SO:0001583	missense	56478			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.540G>C	22.37:g.31859712C>G	ENSP00000380659:p.Leu180Phe		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.L180F	ENST00000397525.1	37	c.540	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193654	0.38707	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.33	3.03	0.35002	.	0.421858	0.20159	N	0.098000	T	0.36908	0.0984	L	0.29908	0.895	0.80722	D	1	B	0.33919	0.432	B	0.39119	0.291	T	0.06716	-1.0811	9	0.12103	T	0.63	-3.3595	6.4112	0.21692	0.0:0.6077:0.207:0.1853	.	180	Q9NRA8	4ET_HUMAN	F	180	.	ENSP00000328103:L180F	L	-	3	2	EIF4ENIF1	30189712	0.048000	0.20356	1.000000	0.80357	0.983000	0.72400	-0.310000	0.08135	1.399000	0.46721	0.557000	0.71058	TTG	EIF4ENIF1	-	pfam_eIF4E_transporter		0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	C	NM_019843		31859712	-1	no_errors	ENST00000330125	ensembl	human	known	70_37	missense	SNP	0.998	G	G	31859712	C	G	31859712	3	3	6	1	0	0	0	0	1	0	0	0	5047	825	29	1	2480	1	EIF4ENIF1	22	31859712	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	118430	31859712	19444854	128	552										
APOL1	8542	genome.wustl.edu	37	chr22	36657728	36657728	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tactcctgctgactgataatGaggcctggaacggattcgtg	12	9	0	3			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:36657728G>T	ENST00000397278.3	+	5	503	c.274G>T	c.(274-276)Gag>Tag	p.E92*	APOL1_ENST00000426053.1_Nonsense_Mutation_p.E74*|APOL1_ENST00000422706.1_Nonsense_Mutation_p.E92*|APOL1_ENST00000397279.4_Nonsense_Mutation_p.E92*|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000319136.4_Nonsense_Mutation_p.E108*	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	92					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GACTGATAATGAGGCCTGGAA	0.507																																																	0													109	100	103					22																	36657728		2203	4300	6503	SO:0001587	stop_gained	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.274G>T	22.37:g.36657728G>T	ENSP00000380448:p.Glu92*		A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Nonsense_Mutation	SNP	pfam_ApoL	p.E108*	ENST00000397278.3	37	c.322	CCDS13926.1	22	.	.	.	.	.	.	.	.	.	.	g	12.47	1.947487	0.34377	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	.	.	.	2.48	-1.5	0.08691	.	1.759820	0.02771	N	0.119685	.	.	.	.	.	.	0.20563	N	0.999884	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.2632	0.20912	0.1252:0.3428:0.532:0.0	.	.	.	.	X	92;92;74;108;92;92	.	ENSP00000317674:E108X	E	+	1	0	APOL1	34987674	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.356000	0.02609	-0.570000	0.06022	-1.579000	0.00862	GAG	APOL1	-	pfam_ApoL		0.507	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	G	NM_145343		36657728	1	no_errors	ENST00000319136	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	36657728	G	T	36657728	4	4	6	1	0	0	0	0	0	1	0	0	805	1291	45	3	340	3	APOL1	22	36657728	Nonsense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	4798016	36657728	14646838	129	553										
C1QTNF6	114904	genome.wustl.edu	37	chr22	37578265	37578265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	tgatgaggtggccgctgaagGtgatgtaggtgtcgaagtcg	18	5	0	4			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:37578265G>T	ENST00000337843.2	-	3	875	c.800C>A	c.(799-801)aCc>aAc	p.T267N	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.T267N|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.T143N	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	248					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCGCTGAAGGTGATGTAGGT	0.662																																																	0													71	65	67					22																	37578265		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.800C>A	22.37:g.37578265G>T	ENSP00000338812:p.Thr267Asn		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.T267N	ENST00000337843.2	37	c.800	CCDS13943.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018155	0.75275	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.78481	-1.18;-1.18;-1.18	4.84	4.84	0.62591	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	M	0.93763	3.455	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.91877	0.5512	10	0.87932	D	0	.	11.4743	0.50288	0.0828:0.0:0.9172:0.0	.	267;248	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	N	267;267;143	ENSP00000380299:T267N;ENSP00000338812:T267N;ENSP00000255836:T143N	ENSP00000255836:T143N	T	-	2	0	C1QTNF6	35908211	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.048000	0.89442	2.238000	0.73509	0.491000	0.48974	ACC	C1QTNF6	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.662	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	G	NM_182486		37578265	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37578265	G	T	37578265	3	4	6	1	0	0	0	0	1	0	0	0	1972	1261	44	4	40	4	C1QTNF6	22	37578265	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	920537	37578265	13726301	130	554										
PPPDE2	27351	genome.wustl.edu	37	chr22	41999299	41999299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agggcaggtctgtgatgtaaGaaggaatcttccgcccagtc	13	9	2	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:41999299G>T	ENST00000263256.6	-	5	633	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	126	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										TGTGATGTAAGAAGGAATCTT	0.512																																																	0													201	161	175					22																	41999299		2203	4300	6503	SO:0001583	missense	27351			AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"family with sequence similarity 152, member B", "PPPDE peptidase domain containing 2"	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.377C>A	22.37:g.41999299G>T	ENSP00000263256:p.Ser126Tyr			Missense_Mutation	SNP	pfam_DUF862_euk	p.S126Y	ENST00000263256.6	37	c.377	CCDS33652.1	22	.	.	.	.	.	.	.	.	.	.	G	33	5.261842	0.95368	.	.	ENSG00000100418	ENST00000263256	.	.	.	5.8	5.8	0.92144	Domain of unknown function DUF862, eukaryotic (1);	0.048483	0.85682	D	0.000000	D	0.84142	0.5407	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	D	0.85591	0.1246	9	0.72032	D	0.01	-23.8376	20.0467	0.97609	0.0:0.0:1.0:0.0	.	126	Q6ICB0	PPDE2_HUMAN	Y	126	.	ENSP00000263256:S126Y	S	-	2	0	PPPDE2	40329245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.903000	0.87398	2.749000	0.94314	0.655000	0.94253	TCT	DESI1	-	pfam_DUF862_euk		0.512	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DESI1	HGNC	protein_coding	OTTHUMT00000104124.3	G	NM_015704		41999299	-1	no_errors	ENST00000263256	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	41999299	G	T	41999299	3	4	6	1	0	0	0	0	1	0	0	0	12436	942	33	3	137	3	PPPDE2	22	41999299	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	4421034	41999299	9305267	131	555										
WNT7B	7477	genome.wustl.edu	37	chr22	46372605	46372605	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccaaagcagagaaacacgtaGaaaatccacttgcgaaagtt	8	9	0	2			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:46372605G>T	ENST00000339464.4	-	1	404	c.30C>A	c.(28-30)ttC>ttA	p.F10L	WNT7B_ENST00000410089.1_5'Flank|WNT7B_ENST00000410058.1_Missense_Mutation_p.F10L|CR536603.1_ENST00000578136.1_RNA	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	10					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GAAACACGTAGAAAATCCACT	0.662																																																	0													46	40	42					22																	46372605		2202	4299	6501	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.30C>A	22.37:g.46372605G>T	ENSP00000341032:p.Phe10Leu		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.F10L	ENST00000339464.4	37	c.30	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	g	0.945	-0.708414	0.03230	.	.	ENSG00000188064	ENST00000339464;ENST00000410058	T;D	0.84370	-0.91;-1.84	3.21	0.788	0.18601	.	0.766735	0.10909	N	0.620764	T	0.66557	0.2801	N	0.14661	0.345	0.22745	N	0.99878	B	0.02656	0.0	B	0.01281	0.0	T	0.50338	-0.8840	10	0.08599	T	0.76	.	4.7828	0.13210	0.1308:0.2232:0.6459:0.0	.	10	P56706	WNT7B_HUMAN	L	10	ENSP00000341032:F10L;ENSP00000387217:F10L	ENSP00000341032:F10L	F	-	3	2	WNT7B	44751269	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	1.861000	0.39438	0.323000	0.23307	0.479000	0.44913	TTC	WNT7B	-	NULL		0.662	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	G	NM_058238		46372605	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46372605	G	T	46372605	3	4	6	1	0	0	0	0	1	0	0	0	17426	933	33	3	1035	3	WNT7B	22	46372605	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08	4373306	46372605	4931961	132	556										
CT47B1	643311	genome.wustl.edu	37	chrX	120009217	120009217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	ccgccaagtcgaagttggccGcctcgttcccctcttcctcc	8	19	1	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chrX:120009217G>A	ENST00000371311.3	-	1	562	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	103										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GAAGTTGGCCGcctcgttccc	0.687																																																	0													63	70	68					X																	120009217		692	1590	2282	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.308C>T	X.37:g.120009217G>A	ENSP00000360360:p.Ala103Val		A6NM97	Missense_Mutation	SNP	NULL	p.A103V	ENST00000371311.3	37	c.308	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987553	0.35036	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.17	-1.7	0.08159	.	.	.	.	.	T	0.31451	0.0797	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.56612	0.802	T	0.16217	-1.0410	8	0.72032	D	0.01	.	1.8115	0.03091	0.2573:0.0:0.3762:0.3664	.	103	P0C2W7	CT47B_HUMAN	V	103	.	ENSP00000360360:A103V	A	-	2	0	CT47B1	119893245	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.774000	0.04684	-0.613000	0.05694	0.171000	0.16805	GCG	CT47B1	-	NULL		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	G	NM_001145718		120009217	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.000	A	A	120009217	G	A	120009217	3	1	6	1	0	0	0	0	1	0	0	0	3994	1087	38	2	599	2	CT47B1	23	120009217	Missense_Mutation	SNP	G	TCGA-C5-A1BF-01B-11D-A13W-08		120009217	35261343	133	557										
ABCD1	215	genome.wustl.edu	37	chrX	152991452	152991452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.255639097744361	34	4.64739390120535e-11	3.4752069142313	5.9987851602654	1.84890093345378	0.0154438155434444	0.0611449023556778	24	agccggcacagcctggccctCggccatcgccggcctcgtgg	14	18	0	0			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chrX:152991452C>T	ENST00000218104.3	+	1	1130	c.731C>T	c.(730-732)tCg>tTg	p.S244L	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.S59L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	244	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCCCTCGGCCATCGCC	0.697																																																	0													25	26	26					X																	152991452		2200	4295	6495	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.731C>T	X.37:g.152991452C>T	ENSP00000218104:p.Ser244Leu		Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.S244L	ENST00000218104.3	37	c.731	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	C	1.236	-0.622720	0.03636	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.94184	-3.37;-3.37	5.37	4.51	0.55191	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.070450	0.64402	D	0.000018	D	0.83755	0.5323	N	0.05414	-0.055	0.51233	D	0.999911	B	0.25441	0.126	B	0.29176	0.099	T	0.76796	-0.2827	10	0.07990	T	0.79	-15.2968	11.9928	0.53184	0.0:0.9128:0.0:0.0872	.	244	P33897	ABCD1_HUMAN	L	244;59	ENSP00000218104:S244L;ENSP00000359147:S59L	ENSP00000218104:S244L	S	+	2	0	ABCD1	152644646	0.930000	0.31532	0.990000	0.47175	0.103000	0.19146	4.680000	0.61656	1.046000	0.40249	0.529000	0.55759	TCG	ABCD1	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter		0.697	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	C	NM_000033		152991452	1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	0.952	T	T	152991452	C	T	152991452	3	4	6	1	0	0	0	0	1	0	0	0	60	893	31	1	733	1	ABCD1	23	152991452	Missense_Mutation	SNP	C	TCGA-C5-A1BF-01B-11D-A13W-08	32982235	152991452	2279108	134	558										
MYCBP	26292	genome.wustl.edu	37	chr1	39333265	39333265	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gttaggtttctctggttcttCatataaggctaccaacactg	8	9	3	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:39333265C>T	ENST00000397572.2	-	3	905	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_3'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	36					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				TCTGGTTCTTCATATAAGGCT	0.308																																					Esophageal Squamous(155;912 1855 21572 25911 44247)												0													51	51	51					1																	39333265		2203	4300	6503	SO:0001583	missense	26292			AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"associate of myc-1"	606535	"c-myc binding protein"			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.106G>A	1.37:g.39333265C>T	ENSP00000380702:p.Glu36Lys		B2R4N0|Q5TA64|Q96HE2	Missense_Mutation	SNP	NULL	p.E36K	ENST00000397572.2	37	c.106	CCDS431.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831284	0.71258	.	.	ENSG00000214114	ENST00000397572	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	T	0.74160	0.3680	M	0.87038	2.855	0.80722	D	1	B	0.27416	0.178	B	0.31547	0.132	T	0.75425	-0.3322	9	0.48119	T	0.1	-5.4384	18.0757	0.89426	0.0:1.0:0.0:0.0	.	36	Q99417	MYCBP_HUMAN	K	36	.	ENSP00000380702:E36K	E	-	1	0	MYCBP	39105852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.215000	0.72206	2.339000	0.79563	0.655000	0.94253	GAA	MYCBP	-	NULL		0.308	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCBP	HGNC	protein_coding	OTTHUMT00000001209.1	C	NM_012333		39333265	-1	no_errors	ENST00000397572	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39333265	C	T	39333265	3	4	7	1	0	0	0	0	1	0	0	0	10040	835	29	1	217	1	MYCBP	1	39333265	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		39333265	209917356	1	559										
TGFBR3	7049	genome.wustl.edu	37	chr1	92184977	92184977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ccattcatcttggccttgcaGgtaggatccaacagggtgac	11	11	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:92184977G>A	ENST00000525962.1	-	9	1519	c.1458C>T	c.(1456-1458)acC>acT	p.T486T	TGFBR3_ENST00000212355.4_Silent_p.T486T|TGFBR3_ENST00000370399.2_Silent_p.T485T			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	486	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGGCCTTGCAGGTAGGATCCA	0.542																																																	0													154	132	139					1																	92184977		2203	4300	6503	SO:0001819	synonymous_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1458C>T	1.37:g.92184977G>A			A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.T486	ENST00000525962.1	37	c.1458	CCDS30770.1	1																																																																																			TGFBR3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.542	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	G	NM_003243		92184977	-1	no_errors	ENST00000212355	ensembl	human	known	70_37	silent	SNP	0.003	A	A	92184977	G	A	92184977	2	1	7	1	0	0	0	0	0	0	0	1	15853	987	35	4		4	TGFBR3	1	92184977	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	52851712	92184977	157065644	2	560										
DR1	1810	genome.wustl.edu	37	chr1	93812311	93812311	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gggtggccaacgatgctcgaGagctggtggtgaactgctgc	17	9	0	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:93812311G>C	ENST00000370272.4	+	1	867	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	RP4-717I23.3_ENST00000451302.2_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.E37Q|RP4-717I23.3_ENST00000413606.1_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	37					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		CGATGCTCGAGAGCTGGTGGT	0.453																																																	0													101	94	96					1																	93812311		2203	4300	6503	SO:0001583	missense	1810			M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.109G>C	1.37:g.93812311G>C	ENSP00000359295:p.Glu37Gln			Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	p.E37Q	ENST00000370272.4	37	c.109	CCDS744.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.210380	0.95069	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.48836	0.8;0.8	5.76	5.76	0.90799	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.80982	2.52	0.80722	D	1	P	0.51351	0.944	P	0.55749	0.783	T	0.64257	-0.6450	10	0.56958	D	0.05	-13.7791	19.9759	0.97304	0.0:0.0:1.0:0.0	.	37	Q01658	NC2B_HUMAN	Q	37	ENSP00000359295:E37Q;ENSP00000359290:E37Q	ENSP00000359290:E37Q	E	+	1	0	DR1	93584899	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.564000	0.98151	2.713000	0.92767	0.655000	0.94253	GAG	DR1	-	pfam_CBFA_NFYB_domain,superfamily_Histone-fold		0.453	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DR1	HGNC	protein_coding	OTTHUMT00000029976.2	G	NM_001938		93812311	1	no_errors	ENST00000370267	ensembl	human	known	70_37	missense	SNP	1.000	C	C	93812311	G	C	93812311	3	2	7	1	0	0	0	0	1	0	0	0	4762	943	33	1	111	1	DR1	1	93812311	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	1627334	93812311	155438310	3	561										
NTNG1	22854	genome.wustl.edu	37	chr1	107867489	107867489	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttggggaaatatttgtagatGagctacacttggcacgctac	11	7	0	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:107867489G>A	ENST00000370068.1	+	3	1678	c.832G>A	c.(832-834)Gag>Aag	p.E278K	NTNG1_ENST00000542803.1_Missense_Mutation_p.E278K|NTNG1_ENST00000370072.3_Missense_Mutation_p.E278K|NTNG1_ENST00000370074.4_Missense_Mutation_p.E278K|NTNG1_ENST00000370071.2_Missense_Mutation_p.E278K|NTNG1_ENST00000370067.1_Missense_Mutation_p.E278K|NTNG1_ENST00000370073.2_Missense_Mutation_p.E278K|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370065.1_Missense_Mutation_p.E278K|NTNG1_ENST00000370066.1_Missense_Mutation_p.E278K|NTNG1_ENST00000370070.2_Missense_Mutation_p.E278K|NTNG1_ENST00000370061.3_Missense_Mutation_p.E278K			Q9Y2I2	NTNG1_HUMAN	netrin G1	278	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTTGTAGATGAGCTACACTT	0.463																																																	0													60	62	61					1																	107867489		2203	4298	6501	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.832G>A	1.37:g.107867489G>A	ENSP00000359085:p.Glu278Lys		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.E278K	ENST00000370068.1	37	c.832	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537507	0.65085	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	6.05	6.05	0.98169	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000008	T	0.65281	0.2676	N	0.25245	0.725	0.58432	D	0.999999	P;D;P;P;B	0.54964	0.945;0.969;0.863;0.637;0.041	P;P;B;B;B	0.52554	0.702;0.702;0.444;0.239;0.036	T	0.66850	-0.5819	10	0.42905	T	0.14	.	16.8106	0.85717	0.0:0.1284:0.8716:0.0	.	278;278;278;278;278	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	K	278;278;278;278;278;278;278;278;39;39;278;278;278;278;278;278	ENSP00000359090:E278K;ENSP00000359088:E278K;ENSP00000440561:E278K;ENSP00000359078:E278K;ENSP00000359089:E278K;ENSP00000359087:E278K;ENSP00000359091:E278K;ENSP00000359085:E278K;ENSP00000359084:E278K;ENSP00000359083:E278K;ENSP00000359082:E278K	ENSP00000294649:E278K	E	+	1	0	NTNG1	107669012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.741000	0.74837	2.880000	0.98712	0.655000	0.94253	GAG	NTNG1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.463	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	G	NM_014917		107867489	1	no_errors	ENST00000370068	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107867489	G	A	107867489	3	1	7	1	0	0	0	0	1	0	0	0	10728	1291	45	1	838	1	NTNG1	1	107867489	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	14055178	107867489	141383132	4	562										
ITGA10	8515	genome.wustl.edu	37	chr1	145532812	145532812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaaatgtctcagattggtttCtccactcatcggctaaaggt	9	9	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:145532812C>T	ENST00000369304.3	+	10	1306	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	ITGA10_ENST00000539363.1_Silent_p.F234F|ITGA10_ENST00000538811.1_Silent_p.F246F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	377					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATTGGTTTCTCCACTCATC	0.468																																																	0													122	120	121					1																	145532812		2203	4300	6503	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1131C>T	1.37:g.145532812C>T			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F377	ENST00000369304.3	37	c.1131	CCDS918.1	1																																																																																			ITGA10	-	NULL		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	C	NM_003637		145532812	1	no_errors	ENST00000369304	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145532812	C	T	145532812	2	4	7	1	0	0	0	0	0	0	0	1	7893	912	32	1		1	ITGA10	1	145532812	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	37665323	145532812	103717809	5	563										
TARS2	80222	genome.wustl.edu	37	chr1	150463973	150463973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aggcttcacgggatcagcttCgccagttgttcaaggtgggg	15	9	3	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:150463973C>T	ENST00000369064.3	+	5	650	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	TARS2_ENST00000369054.2_Missense_Mutation_p.R206C|TARS2_ENST00000438568.2_Missense_Mutation_p.S164L|TARS2_ENST00000606933.1_Missense_Mutation_p.R206C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	206					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGATCAGCTTCGCCAGTTGTT	0.532																																																	0													97	99	98					1																	150463973		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.616C>T	1.37:g.150463973C>T	ENSP00000358060:p.Arg206Cys		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R206C	ENST00000369064.3	37	c.616	CCDS952.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.02|11.02	1.517385|1.517385	0.27123|0.27123	.|.	.|.	ENSG00000143374|ENSG00000143374	ENST00000369054;ENST00000369064|ENST00000438568	T;T|.	0.67523|.	-0.27;3.26|.	5.18|5.18	2.33|2.33	0.28932|0.28932	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.418988|.	0.23784|.	N|.	0.044599|.	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.52266|0.52266	1.64|1.64	0.20975|0.20975	N|N	0.999819|0.999819	B;B|.	0.15473|.	0.0;0.013|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.34153|0.34153	-0.9840|-0.9840	10|6	0.49607|0.06891	T|T	0.09|0.86	-14.5658|-14.5658	6.5472|6.5472	0.22412|0.22412	0.0:0.7145:0.0:0.2855|0.0:0.7145:0.0:0.2855	.|.	206;206|.	Q9H9V2;Q9BW92|.	.;SYTM_HUMAN|.	C|L	206|164	ENSP00000358050:R206C;ENSP00000358060:R206C|.	ENSP00000358050:R206C|ENSP00000415002:S164L	R|S	+|+	1|2	0|0	TARS2|TARS2	148730597|148730597	0.001000|0.001000	0.12720|0.12720	0.635000|0.635000	0.29338|0.29338	0.708000|0.708000	0.40852|0.40852	0.377000|0.377000	0.20552|0.20552	0.901000|0.901000	0.36495|0.36495	0.558000|0.558000	0.71614|0.71614	CGC|TCG	TARS2	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa		0.532	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	C	NM_025150		150463973	1	no_errors	ENST00000369064	ensembl	human	known	70_37	missense	SNP	0.845	T	T	150463973	C	T	150463973	3	4	7	1	0	0	0	0	1	0	0	0	15590	884	31	1	634	1	TARS2	1	150463973	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	4931161	150463973	98786648	6	564										
MAEL	84944	genome.wustl.edu	37	chr1	166973503	166973503	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aaaacctttatagatttattCatcccaacccagggaactgg	6	10	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:166973503C>G	ENST00000367872.4	+	6	854	c.610C>G	c.(610-612)Cat>Gat	p.H204D	MAEL_ENST00000491055.1_3'UTR|RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000367870.2_Missense_Mutation_p.H173D	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	204					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TAGATTTATTCATCCCAACCC	0.353																																																	0													83	85	84					1																	166973503		2203	4300	6503	SO:0001583	missense	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.610C>G	1.37:g.166973503C>G	ENSP00000356846:p.His204Asp		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.H204D	ENST00000367872.4	37	c.610	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258005	0.22965	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.41400	1.01;1.0;1.01	5.7	3.44	0.39384	.	0.509302	0.19302	N	0.117609	T	0.09247	0.0228	N	0.14661	0.345	0.26746	N	0.970296	B;B	0.21821	0.049;0.061	B;B	0.20955	0.023;0.032	T	0.24693	-1.0153	10	0.19590	T	0.45	.	8.8712	0.35316	0.1534:0.7571:0.0:0.0895	.	173;204	E9JVC3;Q96JY0	.;MAEL_HUMAN	D	204;173;173	ENSP00000356846:H204D;ENSP00000356844:H173D;ENSP00000402143:H173D	ENSP00000356844:H173D	H	+	1	0	MAEL	165240127	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	1.931000	0.40134	1.365000	0.46057	0.591000	0.81541	CAT	MAEL	-	superfamily_CH-domain		0.353	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	C	NM_032858		166973503	1	no_errors	ENST00000367872	ensembl	human	known	70_37	missense	SNP	0.996	G	G	166973503	C	G	166973503	3	3	7	1	0	0	0	0	1	0	0	0	9177	826	29	1	632	1	MAEL	1	166973503	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	16509530	166973503	82277118	7	565										
CEP350	9857	genome.wustl.edu	37	chr1	179989083	179989083	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tattgtgactttcatttccaGaaaagacttgatggaatcta	7	6	2	4			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:179989083G>A	ENST00000367607.3	+	12	2592		c.e12-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa						microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCATTTCCAGAAAAGACTTG	0.358																																																	0													99	102	101					1																	179989083		2203	4300	6503	SO:0001630	splice_region_variant	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2175-1G>A	1.37:g.179989083G>A			O75068|Q8TDK3|Q8WY20	Splice_Site	SNP	-	e11-1	ENST00000367607.3	37	c.2175-1	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029130	0.54790	.	.	ENSG00000135837	ENST00000367607	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7854	0.88536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP350	178255706	1.000000	0.71417	0.934000	0.37439	0.800000	0.45204	6.780000	0.75063	2.749000	0.94314	0.655000	0.94253	.	CEP350	-	-		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810	Intron	179989083	1	no_errors	ENST00000367607	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	179989083	G	A	179989083	5	1	7	1	0	0	0	0	0	0	1	0	3259	956	33	1	2216	1	CEP350	1	179989083	Splice_Site	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	13015580	179989083	69261538	8	566										
LAMC1	3915	genome.wustl.edu	37	chr1	183111854	183111854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aggagatcatgaaggacattCgcaatctggaggacatcagg	13	7	3	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:183111854C>T	ENST00000258341.4	+	28	5016	c.4759C>T	c.(4759-4761)Cgc>Tgc	p.R1587C	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1587	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAAGGACATTCGCAATCTGGA	0.498																																																	0													124	108	113					1																	183111854		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4759C>T	1.37:g.183111854C>T	ENSP00000258341:p.Arg1587Cys		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R1587C	ENST00000258341.4	37	c.4759	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356551	0.41700	.	.	ENSG00000135862	ENST00000258341	T	0.31247	1.5	5.57	5.57	0.84162	.	0.437819	0.26079	N	0.026465	T	0.25382	0.0617	L	0.46157	1.445	0.35275	D	0.780854	B	0.32893	0.389	B	0.27796	0.083	T	0.35895	-0.9770	10	0.56958	D	0.05	.	9.7344	0.40379	0.1488:0.609:0.2422:0.0	.	1587	P11047	LAMC1_HUMAN	C	1587	ENSP00000258341:R1587C	ENSP00000258341:R1587C	R	+	1	0	LAMC1	181378477	0.946000	0.32159	0.678000	0.29963	0.996000	0.88848	2.377000	0.44300	2.611000	0.88343	0.655000	0.94253	CGC	LAMC1	-	NULL		0.498	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	C	NM_002293		183111854	1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	0.941	T	T	183111854	C	T	183111854	3	4	7	1	0	0	0	0	1	0	0	0	8634	884	31	1	4869	1	LAMC1	1	183111854	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	3122771	183111854	66138767	9	567										
RYR2	6262	genome.wustl.edu	37	chr1	237890472	237890472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ggctgttgtagcctgcttccGgatggcccccttatataatc	10	12	0	0	rs56228594		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:237890472G>A	ENST00000366574.2	+	76	11128	c.10811G>A	c.(10810-10812)cGg>cAg	p.R3604Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R3588Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R3602Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3604	Interaction with CALM.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3602Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGCTTCCGGATGGCCCCC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											86	82	83					1																	237890472		1837	4072	5909	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10811G>A	1.37:g.237890472G>A	ENSP00000355533:p.Arg3604Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R3602Q	ENST00000366574.2	37	c.10805	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.348927	0.95807	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98028	-4.66;-4.67;-4.65	4.98	4.98	0.66077	.	0.000000	0.52532	U	0.000065	D	0.98585	0.9527	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99755	1.1019	10	0.66056	D	0.02	-11.231	18.6478	0.91418	0.0:0.0:1.0:0.0	.	3604	Q92736	RYR2_HUMAN	Q	3604;3602;3588;559	ENSP00000355533:R3604Q;ENSP00000353174:R3602Q;ENSP00000443798:R3588Q	ENSP00000353174:R3602Q	R	+	2	0	RYR2	235957095	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	9.813000	0.99286	2.475000	0.83589	0.650000	0.86243	CGG	RYR2	-	NULL		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237890472	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237890472	G	A	237890472	3	1	7	1	0	0	0	0	1	0	0	0	13799	1116	39	2	11113	2	RYR2	1	237890472	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	54778618	237890472	11360149	10	568										
PUM2	23369	genome.wustl.edu	37	chr2	20478361	20478361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tacctaaatgcaaactggatGaggatccatgtgatgaaagt	10	6	0	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:20478361G>A	ENST00000361078.2	-	12	1962	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	PUM2_ENST00000403432.1_Missense_Mutation_p.S647L|PUM2_ENST00000319801.5_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.S591L|PUM2_ENST00000338086.5_Missense_Mutation_p.S647L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	647	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTGGATGAGGATCCATG	0.383																																																	0													116	114	114					2																	20478361		2203	4299	6502	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1940C>T	2.37:g.20478361G>A	ENSP00000354370:p.Ser647Leu		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.S647L	ENST00000361078.2	37	c.1940		2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321541	0.81580	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000403432;ENST00000536417	T;T;T;T	0.20200	2.09;2.36;2.09;2.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.981	P;D;D	0.69824	0.908;0.958;0.966	T	0.06499	-1.0823	10	0.19590	T	0.45	-11.338	19.72	0.96137	0.0:0.0:1.0:0.0	.	591;647;647	B4E2B6;Q8TB72-3;Q8TB72	.;.;PUM2_HUMAN	L	647;647;647;591	ENSP00000338173:S647L;ENSP00000354370:S647L;ENSP00000385992:S647L;ENSP00000440093:S591L	ENSP00000338173:S647L	S	-	2	0	PUM2	20341842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.620000	0.98373	2.665000	0.90641	0.650000	0.86243	TCA	PUM2	-	NULL		0.383	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		G	NM_015317		20478361	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20478361	G	A	20478361	3	1	7	1	0	0	0	0	1	0	0	0	12856	1294	45	1	1290	1	PUM2	2	20478361	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		20478361	222721012	11	569										
MAP4K3	8491	genome.wustl.edu	37	chr2	39499440	39499440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttaccttggcagtattctgtCagggagtttgtgtgctggaa	13	6	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:39499440C>T	ENST00000263881.3	-	26	2281	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206N|MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569N|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632N	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	653	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGTATTCTGTCAGGGAGTTTG	0.363																																																	0													99	101	100					2																	39499440		2203	4300	6503	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1957G>A	2.37:g.39499440C>T	ENSP00000263881:p.Asp653Asn		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.D653N	ENST00000263881.3	37	c.1957	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.340783	0.95783	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.72394	-0.65;-0.49;-0.64;2.27	5.48	5.48	0.80851	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.969;0.992	T	0.82504	-0.0424	10	0.62326	D	0.03	.	19.7249	0.96160	0.0:1.0:0.0:0.0	.	632;653	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	N	653;569;632;206	ENSP00000263881:D653N;ENSP00000416958:D569N;ENSP00000345434:D632N;ENSP00000440580:D206N	ENSP00000263881:D653N	D	-	1	0	MAP4K3	39352944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.096000	0.76960	2.735000	0.93741	0.650000	0.86243	GAC	MAP4K3	-	pfam_Citron,smart_Citron		0.363	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	C	NM_003618		39499440	-1	no_errors	ENST00000263881	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39499440	C	T	39499440	3	4	7	1	0	0	0	0	1	0	0	0	9284	826	29	1	763	1	MAP4K3	2	39499440	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	19021079	39499440	203699933	12	570										
ABCG8	64241	genome.wustl.edu	37	chr2	44079964	44079964	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtccagtatttcacagccatCggctacccctgtcctcgcta	7	16	1	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:44079964C>T	ENST00000272286.2	+	6	1011	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	307	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCACAGCCATCGGCTACCCCT	0.592																																																	0													87	85	86					2																	44079964		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.921C>T	2.37:g.44079964C>T			Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.I307	ENST00000272286.2	37	c.921	CCDS1815.1	2																																																																																			ABCG8	-	pfscan_ABC_transporter-like		0.592	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44079964	1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	0.000	T	T	44079964	C	T	44079964	2	4	7	1	0	0	0	0	0	0	0	1	72	874	31	1		1	ABCG8	2	44079964	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	4580524	44079964	199119409	13	571										
CTNNA2	1496	genome.wustl.edu	37	chr2	80101289	80101289	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	caatgctgtacacggcctctCaagcatttctccgccaccca	6	17	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:80101289C>G	ENST00000402739.4	+	5	678	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q259E	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	225					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CACGGCCTCTCAAGCATTTCT	0.567																																																	0													53	57	56					2																	80101289		2075	4209	6284	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.673C>G	2.37:g.80101289C>G	ENSP00000384638:p.Gln225Glu		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q259E	ENST00000402739.4	37	c.775		2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433005	0.62844	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.44542	1.39	0.80722	D	1	B;B;B	0.29270	0.24;0.13;0.13	B;B;B	0.22880	0.042;0.011;0.011	T	0.08806	-1.0704	10	0.51188	T	0.08	.	19.8448	0.96704	0.0:1.0:0.0:0.0	.	225;225;225	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	E	225;225;259;225;225;225	ENSP00000418191:Q225E;ENSP00000419295:Q225E;ENSP00000355398:Q259E;ENSP00000384638:Q225E;ENSP00000444675:Q225E;ENSP00000441705:Q225E	ENSP00000355398:Q259E	Q	+	1	0	CTNNA2	79954797	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CAA	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.567	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	C	NM_004389		80101289	1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80101289	C	G	80101289	3	3	7	1	0	0	0	0	1	0	0	0	4018	827	29	1	691	1	CTNNA2	2	80101289	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	36021325	80101289	163098084	14	572										
ST6GAL2	84620	genome.wustl.edu	37	chr2	107460106	107460106	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cacctgggatgaaaaaaactCtttatgttcaaacccatctt	5	10	3	1	rs200701778		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:107460106C>G	ENST00000409382.3	-	2	938	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E110Q|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E110Q|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	110					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAAAACTCTTTATGTTCA	0.567																																																	0													55	66	62					2																	107460106		2191	4294	6485	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.328G>C	2.37:g.107460106C>G	ENSP00000386942:p.Glu110Gln		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.E110Q	ENST00000409382.3	37	c.328	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713802	0.30413	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.42900	2.02;2.02;0.96	5.54	3.71	0.42584	.	0.421340	0.28403	N	0.015479	T	0.51449	0.1675	L	0.47190	1.495	0.35264	D	0.779853	D;D	0.76494	0.999;0.997	D;P	0.69479	0.964;0.879	T	0.58429	-0.7638	10	0.38643	T	0.18	-23.6281	8.8133	0.34981	0.0:0.6374:0.2863:0.0763	.	110;110	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	Q	110	ENSP00000355273:E110Q;ENSP00000386942:E110Q;ENSP00000387332:E110Q	ENSP00000355273:E110Q	E	-	1	0	ST6GAL2	106826538	0.950000	0.32346	0.006000	0.13384	0.105000	0.19272	4.324000	0.59228	0.670000	0.31165	0.655000	0.94253	GAG	ST6GAL2	-	NULL		0.567	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	C	NM_032528		107460106	-1	no_errors	ENST00000361686	ensembl	human	known	70_37	missense	SNP	0.834	G	G	107460106	C	G	107460106	3	3	7	1	0	0	0	0	1	0	0	0	15252	922	32	1	1368	1	ST6GAL2	2	107460106	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	27358817	107460106	135739267	15	573										
ST6GAL2	84620	genome.wustl.edu	37	chr2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ggagcccccaagcgaatattCcgaaaagcattcgttgtctc	9	12	1	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517																																																	0													52	59	57					2																	107460390		2203	4300	6503	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.44G>A	2.37:g.107460390C>T	ENSP00000386942:p.Gly15Glu		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.G15E	ENST00000409382.3	37	c.44	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495269	0.26774	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.40756	2.07;2.07;1.02	5.74	4.86	0.63082	.	0.152835	0.64402	D	0.000020	T	0.61502	0.2352	L	0.60455	1.87	0.53688	D	0.999974	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.967	T	0.65705	-0.6103	10	0.87932	D	0	-23.2595	16.0748	0.80962	0.0:0.8661:0.1339:0.0	.	15;15	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	E	15	ENSP00000355273:G15E;ENSP00000386942:G15E;ENSP00000387332:G15E	ENSP00000355273:G15E	G	-	2	0	ST6GAL2	106826822	0.984000	0.35163	0.165000	0.22776	0.274000	0.26718	2.651000	0.46674	1.395000	0.46643	0.655000	0.94253	GGA	ST6GAL2	-	NULL		0.517	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	C	NM_032528		107460390	-1	no_errors	ENST00000361686	ensembl	human	known	70_37	missense	SNP	0.865	T	T	107460390	C	T	107460390	3	4	7	1	0	0	0	0	1	0	0	0	15252	855	30	1	1652	1	ST6GAL2	2	107460390	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	284	107460390	135738983	16	574										
TUBA3E	112714	genome.wustl.edu	37	chr2	130953801	130953801	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtctcactgaagaacgtgttGaaggagtcgtccccgccacc	11	13	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:130953801G>A	ENST00000312988.7	-	2	247	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	49					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F49F(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					AGAACGTGTTGAAGGAGTCGT	0.557																																																	1	Substitution - coding silent(1)	endometrium(1)											73	66	68					2																	130953801		2203	4298	6501	SO:0001819	synonymous_variant	112714			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.147C>T	2.37:g.130953801G>A				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.F49	ENST00000312988.7	37	c.147	CCDS2158.1	2																																																																																			TUBA3E	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.557	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	G	NM_207312		130953801	-1	no_errors	ENST00000312988	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130953801	G	A	130953801	2	1	7	1	0	0	0	0	0	0	0	1	16779	1281	45	1		1	TUBA3E	2	130953801	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	23493411	130953801	112245572	17	575										
NEB	4703	genome.wustl.edu	37	chr2	152472532	152472532	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttacatcactagcaatatctCttgaagccttggctgcttgg	8	10	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:152472532C>G	ENST00000172853.10	-	72	10691	c.10544G>C	c.(10543-10545)aGa>aCa	p.R3515T	NEB_ENST00000603639.1_Missense_Mutation_p.R3758T|NEB_ENST00000409198.1_Missense_Mutation_p.R3515T|NEB_ENST00000397345.3_Missense_Mutation_p.R3758T|NEB_ENST00000427231.2_Missense_Mutation_p.R3758T|NEB_ENST00000604864.1_Missense_Mutation_p.R3758T			P20929	NEBU_HUMAN	nebulin	3515					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCAATATCTCTTGAAGCCTT	0.373																																																	0													69	69	69					2																	152472532		1844	4094	5938	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10544G>C	2.37:g.152472532C>G	ENSP00000172853:p.Arg3515Thr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R3758T	ENST00000172853.10	37	c.11273		2	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846519	0.71603	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.64567	1.98	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.62015	-0.6943	10	0.48119	T	0.1	.	17.9894	0.89164	0.0:1.0:0.0:0.0	.	3515	P20929	NEBU_HUMAN	T	3515;3758;3758;3515	ENSP00000386259:R3515T;ENSP00000380505:R3758T;ENSP00000416578:R3758T;ENSP00000172853:R3515T	ENSP00000172853:R3515T	R	-	2	0	NEB	152180778	0.258000	0.24033	0.979000	0.43373	0.813000	0.45954	2.454000	0.44979	2.602000	0.87976	0.650000	0.86243	AGA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.373	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152472532	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152472532	C	G	152472532	3	3	7	1	0	0	0	0	1	0	0	0	10326	913	32	1	14841	1	NEB	2	152472532	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	21518731	152472532	90726841	18	576										
NEB	4703	genome.wustl.edu	37	chr2	152518812	152518812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gggagcccagagggagccatCcaatgcccttcatgaagtca	12	12	2	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:152518812C>T	ENST00000172853.10	-	46	5954	c.5807G>A	c.(5806-5808)gGa>gAa	p.G1936E	NEB_ENST00000603639.1_Missense_Mutation_p.G1936E|NEB_ENST00000409198.1_Missense_Mutation_p.G1936E|NEB_ENST00000397345.3_Missense_Mutation_p.G1936E|NEB_ENST00000427231.2_Missense_Mutation_p.G1936E|NEB_ENST00000604864.1_Missense_Mutation_p.G1936E			P20929	NEBU_HUMAN	nebulin	1936					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGAGCCATCCAATGCCCTT	0.428																																																	0													109	104	105					2																	152518812		1862	4102	5964	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5807G>A	2.37:g.152518812C>T	ENSP00000172853:p.Gly1936Glu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.G1936E	ENST00000172853.10	37	c.5807		2	.	.	.	.	.	.	.	.	.	.	C	33	5.243787	0.95272	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.08008	3.14;3.16;3.16;3.14	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20874	-1.0262	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1936	P20929	NEBU_HUMAN	E	1936	ENSP00000386259:G1936E;ENSP00000380505:G1936E;ENSP00000416578:G1936E;ENSP00000172853:G1936E	ENSP00000172853:G1936E	G	-	2	0	NEB	152227058	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.762000	0.85270	2.866000	0.98385	0.650000	0.86243	GGA	NEB	-	smart_Nebulin_35r-motif		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152518812	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152518812	C	T	152518812	3	4	7	1	0	0	0	0	1	0	0	0	10326	855	30	1	20427	1	NEB	2	152518812	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	46280	152518812	90680561	19	577										
TTN	7273	genome.wustl.edu	37	chr2	179612885	179612885	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aggacaacttttctcagaaaGatcagtttcttctatatctg	6	8	5	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:179612885G>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L4748V|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCAGAAAGATCAGTTTCT	0.368																																																	0													67	68	67					2																	179612885		2202	4296	6498	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4965C>G	2.37:g.179612885G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L4748V	ENST00000591111.1	37	c.14242		2	.	.	.	.	.	.	.	.	.	.	G	2.664	-0.279111	0.05642	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.51325	0.71	5.32	-7.53	0.01336	.	.	.	.	.	T	0.17238	0.0414	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28427	-1.0044	9	0.25751	T	0.34	.	8.8149	0.34989	0.0:0.3587:0.3828:0.2586	.	4748	Q8WZ42-6	.	V	4748;62	ENSP00000354117:L4748V	ENSP00000304714:L62V	L	-	1	0	TTN	179321130	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.261000	0.02855	-1.025000	0.03334	-0.271000	0.10264	CTT	TTN	-	NULL		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179612885	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.000	C	C	179612885	G	C	179612885	1	2	7	0	1	0	0	0	0	0	0	0	16766	942	33	1		1	TTN	2	179612885	Intron	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	27094073	179612885	63586488	20	578										
TTN	7273	genome.wustl.edu	37	chr2	179614188	179614188	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tggtctatttgctcaatagtCtcaaggctttgaaaatagtc	8	7	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:179614188C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.E4313E|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCAATAGTCTCAAGGCTTT	0.383																																																	0													72	75	74					2																	179614188		2203	4298	6501	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3662G>A	2.37:g.179614188C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E4313	ENST00000591111.1	37	c.12939		2																																																																																			TTN	-	NULL		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179614188	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	silent	SNP	0.956	T	T	179614188	C	T	179614188	1	4	7	0	1	0	0	0	0	0	0	0	16766	912	32	1		1	TTN	2	179614188	Intron	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	1303	179614188	63585185	21	579										
STAT1	6772	genome.wustl.edu	37	chr2	191855956	191855956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ccatctttcccttgttacctCaacttcacagtgaactggac	5	14	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:191855956C>G	ENST00000361099.3	-	11	1422	c.1035G>C	c.(1033-1035)ttG>ttC	p.L345F	STAT1_ENST00000392323.2_Missense_Mutation_p.L347F|STAT1_ENST00000392322.3_Missense_Mutation_p.L345F|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L345F	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	345					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTTGTTACCTCAACTTCACAG	0.478																																																	0													122	114	117					2																	191855956		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1035G>C	2.37:g.191855956C>G	ENSP00000354394:p.Leu345Phe		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L345F	ENST00000361099.3	37	c.1035	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563209	0.65538	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.55	2.44	0.29823	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.148230	0.44688	D	0.000429	T	0.81475	0.4830	M	0.78049	2.395	0.80722	D	1	D;P	0.52996	0.957;0.842	P;P	0.54238	0.746;0.629	T	0.81913	-0.0715	10	0.87932	D	0	-21.0065	6.9319	0.24445	0.1299:0.675:0.1255:0.0695	.	345;345	P42224-2;P42224	.;STAT1_HUMAN	F	345;345;345;347	ENSP00000354394:L345F;ENSP00000386244:L345F;ENSP00000376136:L345F;ENSP00000376137:L347F	ENSP00000354394:L345F	L	-	3	2	STAT1	191564201	0.996000	0.38824	0.998000	0.56505	0.813000	0.45954	0.411000	0.21115	1.344000	0.45657	0.561000	0.74099	TTG	STAT1	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.478	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	C	NM_007315		191855956	-1	no_errors	ENST00000361099	ensembl	human	known	70_37	missense	SNP	1.000	G	G	191855956	C	G	191855956	3	3	7	1	0	0	0	0	1	0	0	0	15294	825	29	1	1281	1	STAT1	2	191855956	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	12241768	191855956	51343417	22	580										
UGT1A4	54657	genome.wustl.edu	37	chr2	234628184	234628184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtcttgcctctgagctttttCagagagaggtgtcagtggtg	14	7	4	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:234628184C>G	ENST00000373409.3	+	1	761	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	240					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TGAGCTTTTTCAGAGAGAGGT	0.512																																					Melanoma(99;1011 1962 13201 26492)												0													238	231	233					2																	234628184		2203	4300	6503	SO:0001583	missense	54657			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.718C>G	2.37:g.234628184C>G	ENSP00000362508:p.Gln240Glu		B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Q240E	ENST00000373409.3	37	c.718	CCDS33405.1	2	.	.	.	.	.	.	.	.	.	.	C	1.281	-0.610389	0.03690	.	.	ENSG00000244474	ENST00000373409	T	0.59772	0.24	4.35	2.43	0.29744	.	.	.	.	.	T	0.51856	0.1699	L	0.56340	1.77	0.24399	N	0.994715	B;B	0.09022	0.002;0.001	B;B	0.17722	0.013;0.019	T	0.51028	-0.8757	9	0.66056	D	0.02	.	9.5344	0.39213	0.1511:0.5568:0.2922:0.0	.	240;240	B8K288;P22310	.;UD14_HUMAN	E	240	ENSP00000362508:Q240E	ENSP00000362508:Q240E	Q	+	1	0	UGT1A4	234292923	0.010000	0.17322	0.234000	0.24042	0.145000	0.21501	0.515000	0.22801	0.809000	0.34255	-0.325000	0.08501	CAG	UGT1A4	-	pfam_UDP_glucos_trans		0.512	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130984.1	C	NM_007120		234628184	1	no_errors	ENST00000373409	ensembl	human	known	70_37	missense	SNP	0.695	G	G	234628184	C	G	234628184	3	3	7	1	0	0	0	0	1	0	0	0	16978	827	29	1	720	1	UGT1A4	2	234628184	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	42772228	234628184	8571189	23	581										
CHL1	10752	genome.wustl.edu	37	chr3	432680	432680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtctgttggatggaagaacaCatcccaaagaagtgaacatt	10	7	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:432680C>T	ENST00000256509.2	+	22	3271	c.2629C>T	c.(2629-2631)Cat>Tat	p.H877Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H861Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGAAGAACACATCCCAAAGA	0.358																																																	0													80	83	82					3																	432680		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2629C>T	3.37:g.432680C>T	ENSP00000256509:p.His877Tyr		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H877Y	ENST00000256509.2	37	c.2629	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	3.819	-0.038201	0.07497	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56941	0.43;0.43	5.75	1.29	0.21616	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.612526	0.18261	N	0.146624	T	0.51534	0.1680	L	0.46157	1.445	0.09310	N	1	P;P;B	0.35714	0.517;0.517;0.38	P;P;B	0.52159	0.691;0.456;0.283	T	0.46091	-0.9216	10	0.02654	T	1	.	8.9584	0.35832	0.0:0.6802:0.1112:0.2086	.	861;861;877	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	Y	877;861	ENSP00000256509:H877Y;ENSP00000380628:H861Y	ENSP00000256509:H877Y	H	+	1	0	CHL1	407680	0.752000	0.28338	0.007000	0.13788	0.970000	0.65996	2.133000	0.42093	0.323000	0.23307	0.655000	0.94253	CAT	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.358	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	C	NM_006614		432680	1	no_errors	ENST00000256509	ensembl	human	known	70_37	missense	SNP	0.000	T	T	432680	C	T	432680	3	4	7	1	0	0	0	0	1	0	0	0	3354	478	17	4	2707	4	CHL1	3	432680	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		432680	197589750	24	582										
ZNF445	353274	genome.wustl.edu	37	chr3	44490124	44490124	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttctctgagcccaattccctCagaaacacttgtcgcaggac	7	14	2	2	rs370406740		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:44490124C>T	ENST00000396077.2	-	8	1386	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	ZNF445_ENST00000425708.2_Missense_Mutation_p.E347K	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	347					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCAATTCCCTCAGAAACACTT	0.403																																																	0													82	83	83					3																	44490124		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1039G>A	3.37:g.44490124C>T	ENSP00000379387:p.Glu347Lys		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E347K	ENST00000396077.2	37	c.1039	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.120622	0.94385	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674	T;T	0.05925	3.37;3.37	4.21	3.32	0.38043	.	0.389262	0.22144	N	0.064011	T	0.03011	0.0089	N	0.14661	0.345	0.35816	D	0.824223	P;P	0.37015	0.578;0.578	B;B	0.28709	0.093;0.093	T	0.53711	-0.8400	10	0.21540	T	0.41	.	8.4726	0.32995	0.0:0.8928:0.0:0.1072	.	335;347	B7ZKX2;P59923	.;ZN445_HUMAN	K	347;347;340	ENSP00000413073:E347K;ENSP00000379387:E347K	ENSP00000342436:E340K	E	-	1	0	ZNF445	44465128	0.000000	0.05858	0.981000	0.43875	0.831000	0.47069	0.304000	0.19228	1.336000	0.45506	0.591000	0.81541	GAG	ZNF445	-	NULL		0.403	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	C	NM_181489		44490124	-1	no_errors	ENST00000396077	ensembl	human	known	70_37	missense	SNP	0.995	T	T	44490124	C	T	44490124	3	4	7	1	0	0	0	0	1	0	0	0	17948	835	29	1	2060	1	ZNF445	3	44490124	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	44057444	44490124	153532306	25	583										
FSTL1	11167	genome.wustl.edu	37	chr3	120122095	120122095	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	taggttaggcatactcttctCaggagggttgaaagatgggt	14	5	2	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:120122095C>G	ENST00000295633.3	-	8	1044	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	FSTL1_ENST00000424703.2_Missense_Mutation_p.E195Q	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	230					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ATACTCTTCTCAGGAGGGTTG	0.448																																																	0													92	92	92					3																	120122095		2203	4300	6503	SO:0001583	missense	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.688G>C	3.37:g.120122095C>G	ENSP00000295633:p.Glu230Gln		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2	p.E230Q	ENST00000295633.3	37	c.688	CCDS2998.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.036038|3.036038	0.54896|0.54896	.|.	.|.	ENSG00000163430|ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703|ENST00000480823	T;T|.	0.64803|.	-0.12;-0.12|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.318910|.	0.38381|.	N|.	0.001709|.	T|.	0.73745|.	0.3626|.	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.45569|.	0.861;0.75|.	B;B|.	0.38500|.	0.275;0.167|.	T|.	0.69676|.	-0.5081|.	10|.	0.51188|.	T|.	0.08|.	-19.7611|-19.7611	18.0158|18.0158	0.89239|0.89239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195;230|.	B4DTT5;Q12841|.	.;FSTL1_HUMAN|.	Q|S	230;173;195|17	ENSP00000295633:E230Q;ENSP00000394355:E195Q|.	ENSP00000295633:E230Q|.	E|X	-|-	1|2	0|2	FSTL1|FSTL1	121604785|121604785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.657000|5.657000	0.67996|0.67996	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|TGA	FSTL1	-	NULL		0.448	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	C	NM_007085		120122095	-1	no_errors	ENST00000295633	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120122095	C	G	120122095	3	3	7	1	0	0	0	0	1	0	0	0	6095	835	29	1	254	1	FSTL1	3	120122095	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	75631971	120122095	77900335	26	584										
RCHY1	25898	genome.wustl.edu	37	chr4	76439453	76439453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gctcgcagccccgctgacctCgctcttgaccgctggcgcca	11	19	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr4:76439453C>T	ENST00000324439.5	-	1	442	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	RCHY1_ENST00000380840.2_Missense_Mutation_p.R15Q|THAP6_ENST00000507557.1_5'Flank|RCHY1_ENST00000451788.1_Missense_Mutation_p.R15Q|THAP6_ENST00000380837.3_5'Flank|THAP6_ENST00000514480.1_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.R15Q|RCHY1_ENST00000512706.1_Missense_Mutation_p.E8K|RCHY1_ENST00000514021.1_Intron|THAP6_ENST00000502620.1_5'Flank|THAP6_ENST00000504190.1_5'Flank|THAP6_ENST00000508105.1_5'Flank|THAP6_ENST00000311638.3_5'Flank|THAP6_ENST00000507556.1_5'Flank|THAP6_ENST00000507885.1_5'Flank	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	15					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCGCTGACCTCGCTCTTGACC	0.617																																																	0													89	78	82					4																	76439453		2203	4300	6503	SO:0001583	missense	25898			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.44G>A	4.37:g.76439453C>T	ENSP00000321239:p.Arg15Gln		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R15Q	ENST00000324439.5	37	c.44	CCDS3567.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.194|0.194	-1.050502|-1.050502	0.01981|0.01981	.|.	.|.	ENSG00000163743|ENSG00000163743	ENST00000512706|ENST00000324439;ENST00000451788;ENST00000380840;ENST00000513257;ENST00000507014	T|T;T	0.28069|0.30182	1.63|1.56;1.54	4.28|4.28	-0.427|-0.427	0.12310|0.12310	.|Zinc finger, CHY-type (1);	.|0.762404	.|0.11702	.|N	.|0.537851	T|T	0.11410|0.11410	0.0278|0.0278	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999972|0.999972	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	T|T	0.33420|0.33420	-0.9869|-0.9869	7|10	0.21540|0.13108	T|T	0.41|0.6	-7.768|-7.768	3.5838|3.5838	0.07963|0.07963	0.0:0.3707:0.21:0.4192|0.0:0.3707:0.21:0.4192	.|.	.|15;15;15;15;15	.|E7EMC8;Q2KN33;Q96PM5-2;Q96PM5;G3FDP4	.|.;.;.;ZN363_HUMAN;.	K|Q	8|15	ENSP00000423976:E8K|ENSP00000321239:R15Q;ENSP00000370220:R15Q	ENSP00000423976:E8K|ENSP00000321239:R15Q	E|R	-|-	1|2	0|0	RCHY1|RCHY1	76658477|76658477	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.366000|0.366000	0.29705|0.29705	-0.406000|-0.406000	0.07187|0.07187	-0.007000|-0.007000	0.14345|0.14345	0.555000|0.555000	0.69702|0.69702	GAG|CGA	RCHY1	-	NULL		0.617	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2	C	NM_015436		76439453	-1	no_errors	ENST00000324439	ensembl	human	known	70_37	missense	SNP	0.005	T	T	76439453	C	T	76439453	3	4	7	1	0	0	0	0	1	0	0	0	13207	884	31	1	777	1	RCHY1	4	76439453	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		76439453	114714823	27	585										
GPRIN3	285513	genome.wustl.edu	37	chr4	90169399	90169399	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	acggagcgagatggggtcttCttgccagaacctgggctgga	16	9	2	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr4:90169399C>T	ENST00000609438.1	-	2	2381	c.1863G>A	c.(1861-1863)aaG>aaA	p.K621K	GPRIN3_ENST00000333209.4_Silent_p.K621K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	621										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATGGGGTCTTCTTGCCAGAAC	0.577																																																	0													82	85	84					4																	90169399		2203	4300	6503	SO:0001819	synonymous_variant	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1863G>A	4.37:g.90169399C>T			Q8IVE4	Silent	SNP	NULL	p.K621	ENST00000609438.1	37	c.1863	CCDS34030.1	4																																																																																			GPRIN3	-	NULL		0.577	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90169399	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	silent	SNP	0.011	T	T	90169399	C	T	90169399	2	4	7	1	0	0	0	0	0	0	0	1	6751	912	32	1		1	GPRIN3	4	90169399	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	13729946	90169399	100984877	28	586										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5232548	5232548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gcccacccatggccactggtCggactggtcttcttggtccc	11	16	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:5232548C>T	ENST00000274181.7	+	12	1907	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	590	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCCACTGGTCGGACTGGTCT	0.532																																																	0													95	111	105					5																	5232548		2105	4228	6333	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1769C>T	5.37:g.5232548C>T	ENSP00000274181:p.Ser590Leu		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S590L	ENST00000274181.7	37	c.1769	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937384	0.92458	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.60920	0.15	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	D	0.83353	0.5236	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.963;0.964	D	0.89056	0.3459	10	0.87932	D	0	.	17.4795	0.87669	0.0:1.0:0.0:0.0	.	590;590	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	590	ENSP00000274181:S590L	ENSP00000274181:S590L	S	+	2	0	ADAMTS16	5285548	1.000000	0.71417	0.971000	0.41717	0.786000	0.44442	7.442000	0.80503	2.418000	0.82041	0.491000	0.48974	TCG	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5232548	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5232548	C	T	5232548	3	4	7	1	0	0	0	0	1	0	0	0	261	893	31	1	1815	1	ADAMTS16	5	5232548	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		5232548	175682712	29	587										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5306632	5306632	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tttagtgctctgtgacatgtGaaagaggaacacagaaaaga	11	5	1	5			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:5306632G>A	ENST00000274181.7	+	21	3340	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1068	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGTGACATGTGAAAGAGGAAC	0.368																																																	0													94	92	93					5																	5306632		1848	4089	5937	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3202G>A	5.37:g.5306632G>A	ENSP00000274181:p.Glu1068Lys		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1068K	ENST00000274181.7	37	c.3202	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902829	0.52227	.	.	ENSG00000145536	ENST00000274181	T	0.60548	0.18	5.21	4.32	0.51571	.	0.229866	0.37053	N	0.002269	T	0.50309	0.1608	L	0.44542	1.39	0.22500	N	0.999043	B	0.27013	0.166	B	0.28916	0.096	T	0.52079	-0.8623	10	0.87932	D	0	.	11.7066	0.51601	0.0:0.1868:0.8132:0.0	.	1068	Q8TE57	ATS16_HUMAN	K	1068	ENSP00000274181:E1068K	ENSP00000274181:E1068K	E	+	1	0	ADAMTS16	5359632	1.000000	0.71417	0.023000	0.16930	0.958000	0.62258	3.311000	0.51919	1.290000	0.44636	0.561000	0.74099	GAA	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.368	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5306632	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.714	A	A	5306632	G	A	5306632	3	1	7	1	0	0	0	0	1	0	0	0	261	1291	45	1	3284	1	ADAMTS16	5	5306632	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	74084	5306632	175608628	30	588										
C5orf35	133383	genome.wustl.edu	37	chr5	56209780	56209780	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cgtcagaaattcataaccctCtggctgtgggacagtatgtc	10	10	3	1	rs539773583	byFrequency	TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:56209780C>T	ENST00000285947.2	+	4	1056	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	SETD9_ENST00000541720.1_Silent_p.L224L|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	224	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										TCATAACCCTCTGGCTGTGGG	0.418													C|||	2	0.000399361	0	0.0029	5008	,	,		15749	0		0	False		,,,				2504	0																0													107	99	102					5																	56209780		2203	4300	6503	SO:0001819	synonymous_variant	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.670C>T	5.37:g.56209780C>T			F5H713	Silent	SNP	NULL	p.L224	ENST00000285947.2	37	c.670	CCDS3972.1	5																																																																																			SETD9	-	NULL		0.418	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56209780	1	no_errors	ENST00000285947	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56209780	C	T	56209780	2	4	7	1	0	0	0	0	0	0	0	1	2299	912	32	1		1	C5orf35	5	56209780	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	50903148	56209780	124705480	31	589										
F2R	2149	genome.wustl.edu	37	chr5	76028349	76028349	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cggatatttgaccagctcctGgctgacactctttgtcccat	8	13	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:76028349G>C	ENST00000319211.4	+	2	564	c.299G>C	c.(298-300)tGg>tCg	p.W100S		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	100					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ACCAGCTCCTGGCTGACACTC	0.448																																																	0													144	144	144					5																	76028349		2203	4300	6503	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.299G>C	5.37:g.76028349G>C	ENSP00000321326:p.Trp100Ser		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.W100S	ENST00000319211.4	37	c.299	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097644	0.56075	.	.	ENSG00000181104	ENST00000319211	T	0.36520	1.25	4.89	4.89	0.63831	.	0.144057	0.49916	D	0.000138	T	0.61324	0.2338	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64175	-0.6469	10	0.66056	D	0.02	-20.5777	18.5995	0.91242	0.0:0.0:1.0:0.0	.	100	P25116	PAR1_HUMAN	S	100	ENSP00000321326:W100S	ENSP00000321326:W100S	W	+	2	0	F2R	76064105	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	6.627000	0.74258	2.684000	0.91462	0.561000	0.74099	TGG	F2R	-	prints_Thrmbn_rcpt,prints_Protea_act_rcpt		0.448	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	G			76028349	1	no_errors	ENST00000319211	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76028349	G	C	76028349	3	2	7	1	0	0	0	0	1	0	0	0	5355	1357	47	4	305	4	F2R	5	76028349	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	19818569	76028349	104886911	32	590										
PAM	5066	genome.wustl.edu	37	chr5	102262314	102262314	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ggattcagagttggaggagaGactggaagtaaatactttgt	14	3	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:102262314G>A	ENST00000438793.3	+	6	938	c.468G>A	c.(466-468)gaG>gaA	p.E156E	PAM_ENST00000304400.7_Silent_p.E156E|PAM_ENST00000274392.9_Silent_p.E59E|PAM_ENST00000346918.2_Silent_p.E156E|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.E156E|PAM_ENST00000348126.2_Silent_p.E156E	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	156	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTGGAGGAGAGACTGGAAGTA	0.328																																																	0													154	160	158					5																	102262314		2203	4300	6503	SO:0001819	synonymous_variant	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.468G>A	5.37:g.102262314G>A			A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	NULL	p.R137K	ENST00000438793.3	37	c.410	CCDS54885.1	5																																																																																			PAM	-	NULL		0.328	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	G	NM_000919		102262314	1	no_errors	ENST00000345721	ensembl	human	known	70_37	missense	SNP	0.996	A	A	102262314	G	A	102262314	2	1	7	1	0	0	0	0	0	0	0	1	11436	933	33	1		1	PAM	5	102262314	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	26233965	102262314	78652946	33	591										
AQPEP	206338	genome.wustl.edu	37	chr5	115298713	115298713	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttcactggccgcgtgaacatCacggtgcgctgcacggtggc	14	13	2	1	rs571373626		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:115298713C>T	ENST00000357872.4	+	1	523	c.399C>T	c.(397-399)atC>atT	p.I133I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		133						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GCGTGAACATCACGGTGCGCT	0.687																																																	0													52	56	55					5																	115298713		2202	4299	6501	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.399C>T	5.37:g.115298713C>T			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.I133	ENST00000357872.4	37	c.399	CCDS4124.1	5																																																																																			AQPEP	-	pfam_Peptidase_M1_N		0.687	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115298713	1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	1.000	T	T	115298713	C	T	115298713	2	4	7	1	0	0	0	0	0	0	0	1	834	816	29	1		1	AQPEP	5	115298713	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	13036399	115298713	65616547	34	592										
PCDHB6	56130	genome.wustl.edu	37	chr5	140532130	140532130	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaaacaaatgagttcaagttCctgaagccgattatgcccaa	8	9	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:140532130C>T	ENST00000231136.1	+	1	2292	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	PCDHB6_ENST00000543635.1_Silent_p.F628F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	764					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCAAGTTCCTGAAGCCGA	0.542																																																	0													131	140	137					5																	140532130		2202	4300	6502	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2292C>T	5.37:g.140532130C>T			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F764	ENST00000231136.1	37	c.2292	CCDS4248.1	5																																																																																			PCDHB6	-	NULL		0.542	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140532130	1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.934	T	T	140532130	C	T	140532130	2	4	7	1	0	0	0	0	0	0	0	1	11570	854	30	1		1	PCDHB6	5	140532130	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	25233417	140532130	40383130	35	593										
GFPT2	9945	genome.wustl.edu	37	chr5	179731829	179731829	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttggcgaagcaaggatccttCataatgaccatgatgacggg	12	8	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:179731829C>T	ENST00000253778.8	-	17	1954	c.1785G>A	c.(1783-1785)atG>atA	p.M595I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	595	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAGGATCCTTCATAATGACCA	0.577																																																	0													142	153	150					5																	179731829		2050	4190	6240	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1785G>A	5.37:g.179731829C>T	ENSP00000253778:p.Met595Ile		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.M595I	ENST00000253778.8	37	c.1785	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488518	0.84854	.	.	ENSG00000131459	ENST00000253778	T	0.62639	0.01	5.75	5.75	0.90469	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.68593	2.085	0.80722	D	1	P	0.36535	0.557	B	0.35688	0.208	T	0.62599	-0.6820	9	.	.	.	-47.9146	19.9421	0.97168	0.0:1.0:0.0:0.0	.	595	O94808	GFPT2_HUMAN	I	595	ENSP00000253778:M595I	.	M	-	3	0	GFPT2	179664435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.714000	0.92807	0.561000	0.74099	ATG	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans		0.577	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179731829	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179731829	C	T	179731829	3	4	7	1	0	0	0	0	1	0	0	0	6365	826	29	1	275	1	GFPT2	5	179731829	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	39199699	179731829	1183431	36	594										
HIST1H4K	8362	genome.wustl.edu	37	chr6	27798995	27798995	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tgttgatagaaagggacgctCaaccaccgaaaccgtagagg	12	9	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:27798995C>G	ENST00000357549.2	-	1	310	c.311G>C	c.(310-312)tGa>tCa	p.*104S		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGGACGCTCAACCACCGAA	0.552																																																	0													37	40	39					6																	27798995		2203	4300	6503	SO:0001578	stop_lost	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.311G>C	6.37:g.27798995C>G			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104S	ENST00000357549.2	37	c.311	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	1.798	-0.477920	0.04414	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.26	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7158	0.77667	0.0:0.3071:0.0:0.6929	.	.	.	.	S	104	.	.	X	-	2	2	HIST1H4K	27906974	0.850000	0.29656	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-2.164000	0.00782	-1.851000	0.00568	TGA	HIST1H4K	-	NULL		0.552	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	C	NM_003541		27798995	-1	no_errors	ENST00000357549	ensembl	human	known	70_37	nonstop	SNP	0.004	G	G	27798995	C	G	27798995	4	3	7	1	0	0	0	0	0	0	0	0	7195	837	29	1	4	1	HIST1H4K	6	27798995	Nonstop_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		27798995	143316072	37	595										
ZBTB12	221527	genome.wustl.edu	37	chr6	31868750	31868750	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttctccaccacgtgctccatCtgcaggtaggaggcggctgt	12	13	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:31868750C>T	ENST00000375527.2	-	2	508	c.333G>A	c.(331-333)caG>caA	p.Q111Q	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CGTGCTCCATCTGCAGGTAGG	0.567																																																	0													79	74	76					6																	31868750		2203	4300	6503	SO:0001819	synonymous_variant	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.333G>A	6.37:g.31868750C>T			B0UY00|Q5JQ98	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q111	ENST00000375527.2	37	c.333	CCDS4727.1	6																																																																																			ZBTB12	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.567	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2	C	NM_181842		31868750	-1	no_errors	ENST00000375527	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31868750	C	T	31868750	2	4	7	1	0	0	0	0	0	0	0	1	17555	912	32	1		1	ZBTB12	6	31868750	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	4069755	31868750	139246317	38	596										
TMEM30A	55754	genome.wustl.edu	37	chr6	75975015	75975015	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cacgtaacgacgatggttttGatagaaattagacagtccat	9	7	0	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:75975015G>A	ENST00000230461.6	-	3	714	c.385C>T	c.(385-387)Caa>Taa	p.Q129*	TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.Q93*|TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.Q10*	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	129					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGATGGTTTTGATAGAAATTA	0.299																																																	0													75	73	74					6																	75975015		2203	4298	6501	SO:0001587	stop_gained	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.385C>T	6.37:g.75975015G>A	ENSP00000230461:p.Gln129*		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Nonsense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.Q129*	ENST00000230461.6	37	c.385	CCDS4983.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.362547	0.99148	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2885	0.98538	0.0:0.0:1.0:0.0	.	.	.	.	X	129;113;10;93;10	.	ENSP00000230461:Q129X	Q	-	1	0	TMEM30A	76031735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.739000	0.98837	2.791000	0.96007	0.650000	0.86243	CAA	TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.299	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	G	NM_018247		75975015	-1	no_errors	ENST00000230461	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	75975015	G	A	75975015	4	1	7	1	0	0	0	0	0	1	0	0	16183	1299	45	1	720	1	TMEM30A	6	75975015	Nonsense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	44106265	75975015	95140052	39	597										
KIAA1009	22832	genome.wustl.edu	37	chr6	84913788	84913788	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	caacggtgcaccaacatactCatcttcaaaatcatcactgt	4	13	5	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:84913788C>T	ENST00000403245.3	-	7	712	c.598G>A	c.(598-600)Gag>Aag	p.E200K	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E124K	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CCAACATACTCATCTTCAAAA	0.328																																																	0													96	98	98					6																	84913788		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.598G>A	6.37:g.84913788C>T	ENSP00000385215:p.Glu200Lys			Missense_Mutation	SNP	NULL	p.E200K	ENST00000403245.3	37	c.598	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953238	0.53293	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.16073	2.37;2.37	5.61	5.61	0.85477	.	0.291939	0.28125	N	0.016508	T	0.22975	0.0555	M	0.67953	2.075	0.32100	N	0.590714	P;D	0.63880	0.763;0.993	B;P	0.58520	0.382;0.84	T	0.04281	-1.0963	10	0.56958	D	0.05	-17.3484	11.8443	0.52374	0.0:0.9187:0.0:0.0813	.	200;200	Q5TB80;C9JFM9	QN1_HUMAN;.	K	124;200	ENSP00000257766:E124K;ENSP00000385215:E200K	ENSP00000257766:E124K	E	-	1	0	KIAA1009	84970507	0.994000	0.37717	0.987000	0.45799	0.288000	0.27193	2.738000	0.47401	2.635000	0.89317	0.563000	0.77884	GAG	KIAA1009	-	NULL		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84913788	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	0.853	T	T	84913788	C	T	84913788	3	4	7	1	0	0	0	0	1	0	0	0	8223	835	29	1	3697	1	KIAA1009	6	84913788	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	8938773	84913788	86201279	40	598										
CLVS2	134829	genome.wustl.edu	37	chr6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tttcctgaaggagaaaactcGgaaaagggtattcttttctt	9	6	2	2	rs376660185		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:123369870G>A	ENST00000275162.5	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110	116	114		668	4.8	1	6		114	0,8600		0,0,4300	no	missense	CLVS2	NM_001010852.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	223/328	123369870	1,13005	2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.668G>A	6.37:g.123369870G>A	ENSP00000275162:p.Arg223Gln		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R223Q	ENST00000275162.5	37	c.668	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033250	0.93575	2.27E-4	0.0	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.77620	-1.11;-1.11	5.72	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055607	0.64402	D	0.000001	T	0.61837	0.2379	L	0.49256	1.55	0.80722	D	1	P	0.47841	0.901	B	0.37692	0.256	T	0.64740	-0.6336	10	0.33141	T	0.24	-16.4352	15.8674	0.79074	0.0:0.0:0.8639:0.1361	.	223	Q5SYC1	CLVS2_HUMAN	Q	223;77	ENSP00000275162:R223Q;ENSP00000357423:R77Q	ENSP00000275162:R223Q	R	+	2	0	CLVS2	123411569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.850000	0.98022	0.650000	0.86243	CGG	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran		0.378	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	G	NM_001010852		123369870	1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123369870	G	A	123369870	3	1	7	1	0	0	0	0	1	0	0	0	3577	1116	39	2	678	2	CLVS2	6	123369870	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	38456082	123369870	47745197	41	599										
SHPRH	257218	genome.wustl.edu	37	chr6	146256116	146256116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctgtctgagcctcagcaatgGatacaggatagaggtgacag	13	8	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:146256116G>A	ENST00000367505.2	-	13	3181	c.2917C>T	c.(2917-2919)Cca>Tca	p.P973S	SHPRH_ENST00000438092.2_Missense_Mutation_p.P973S|SHPRH_ENST00000367503.3_Missense_Mutation_p.P973S|SHPRH_ENST00000275233.7_Missense_Mutation_p.P973S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	973					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCAGCAATGGATACAGGATA	0.478																																																	0													70	72	71					6																	146256116		1911	4143	6054	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2917C>T	6.37:g.146256116G>A	ENSP00000356475:p.Pro973Ser		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.P973S	ENST00000367505.2	37	c.2917	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762465	0.89932	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.91	5.91	0.95273	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.72626	-0.4236	10	0.24483	T	0.36	-16.8977	20.2983	0.98569	0.0:0.0:1.0:0.0	.	862;973;973	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	S	973	ENSP00000356475:P973S;ENSP00000356473:P973S;ENSP00000412797:P973S;ENSP00000275233:P973S	ENSP00000275233:P973S	P	-	1	0	SHPRH	146297809	1.000000	0.71417	0.637000	0.29366	0.906000	0.53458	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	CCA	SHPRH	-	pfam_SNF2_N		0.478	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	G	NM_173082		146256116	-1	no_errors	ENST00000367503	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146256116	G	A	146256116	3	1	7	1	0	0	0	0	1	0	0	0	14321	1174	41	1	2250	1	SHPRH	6	146256116	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	22886246	146256116	24858951	42	600										
TAGAP	117289	genome.wustl.edu	37	chr6	159457435	159457435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctttcctttctgacacccctCgggacgtggtccctggtaaa	9	14	1	1	rs200549687		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:159457435C>T	ENST00000367066.3	-	10	1951	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P362P|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	540					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGACACCCCTCGGGACGTGGT	0.562																																																	0													51	56	54					6																	159457435		2203	4300	6503	SO:0001819	synonymous_variant	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1620G>A	6.37:g.159457435C>T			Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P540	ENST00000367066.3	37	c.1620	CCDS5261.1	6																																																																																			TAGAP	-	NULL		0.562	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	C	NM_054114		159457435	-1	no_errors	ENST00000367066	ensembl	human	known	70_37	silent	SNP	0.017	T	T	159457435	C	T	159457435	2	4	7	1	0	0	0	0	0	0	0	1	15567	871	31	1		1	TAGAP	6	159457435	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	13201319	159457435	11657632	43	601										
AEBP1	165	genome.wustl.edu	37	chr7	44152195	44152195	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gccatcattgcctggatggaGaagaaccccttcgtgctggg	13	11	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:44152195G>C	ENST00000223357.3	+	18	2561	c.2256G>C	c.(2254-2256)gaG>gaC	p.E752D	AEBP1_ENST00000450684.2_Missense_Mutation_p.E327D|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	752	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCTGGATGGAGAAGAACCCCT	0.637																																																	0													47	50	49					7																	44152195		2203	4298	6501	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2256G>C	7.37:g.44152195G>C	ENSP00000223357:p.Glu752Asp		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E752D	ENST00000223357.3	37	c.2256	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278077	0.23307	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10763	2.84;2.84	5.08	3.12	0.35913	Peptidase M14, carboxypeptidase A (2);	0.112587	0.64402	D	0.000016	T	0.06872	0.0175	N	0.12887	0.27	0.41420	D	0.987798	B;B	0.21688	0.035;0.059	B;B	0.31495	0.022;0.131	T	0.31364	-0.9946	10	0.42905	T	0.14	-40.3445	7.748	0.28879	0.0759:0.1178:0.6861:0.1203	.	327;752	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	D	752;327	ENSP00000223357:E752D;ENSP00000398878:E327D	ENSP00000223357:E752D	E	+	3	2	AEBP1	44118720	0.975000	0.34042	1.000000	0.80357	0.536000	0.34869	0.093000	0.15086	0.664000	0.31047	-1.579000	0.00862	GAG	AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.637	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	G	NM_001129		44152195	1	no_errors	ENST00000223357	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44152195	G	C	44152195	3	2	7	1	0	0	0	0	1	0	0	0	349	933	33	1	2326	1	AEBP1	7	44152195	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		44152195	114986468	44	602										
ZNF92	168374	genome.wustl.edu	37	chr7	64864655	64864655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctacaaatatgaagaatgtgAcaaagcctttaacaagttct	6	7	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:64864655A>G	ENST00000328747.7	+	4	1827	c.1628A>G	c.(1627-1629)gAc>gGc	p.D543G	ZNF92_ENST00000431504.1_Missense_Mutation_p.D467G|ZNF92_ENST00000357512.2_Missense_Mutation_p.D511G|ZNF92_ENST00000450302.2_Missense_Mutation_p.D474G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	543					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D543G(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAGAATGTGACAAAGCCTTT	0.363																																																	1	Substitution - Missense(1)	stomach(1)																																								SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1628A>G	7.37:g.64864655A>G	ENSP00000332595:p.Asp543Gly		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D543G	ENST00000328747.7	37	c.1628	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.761267	0.00657	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	0.418	0.418	0.16429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.01048	-1.04	0.25099	N	0.990796	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.004	T	0.45249	-0.9274	9	0.02654	T	1	.	2.6244	0.04925	0.6066:0.0:0.3934:0.0	.	511;543	Q03936-3;Q03936	.;ZNF92_HUMAN	G	543;467;511;474	ENSP00000332595:D543G;ENSP00000400495:D467G;ENSP00000350113:D511G;ENSP00000396126:D474G	ENSP00000332595:D543G	D	+	2	0	ZNF92	64502090	0.993000	0.37304	0.170000	0.22879	0.169000	0.22640	0.348000	0.20031	0.383000	0.24910	0.377000	0.23210	GAC	ZNF92	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	A	NM_152626		64864655	1	no_errors	ENST00000328747	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64864655	A	G	64864655	3	3	7	1	0	0	0	0	1	0	0	0	18231	275	10	5	1642	5	ZNF92	7	64864655	Missense_Mutation	SNP	A	TCGA-C5-A1BI-01B-11D-A13W-08	20712460	64864655	94274008	45	603										
DOCK4	9732	genome.wustl.edu	37	chr7	111508135	111508135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aatgcagcagcggaactcctCttcgttttgcccaccagtgg	10	13	1	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:111508135C>T	ENST00000437633.1	-	22	2441	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	DOCK4_ENST00000428084.1_Missense_Mutation_p.E729K|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	729					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGGAACTCCTCTTCGTTTTGC	0.408																																																	0													60	62	62					7																	111508135		1865	4109	5974	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2185G>A	7.37:g.111508135C>T	ENSP00000404179:p.Glu729Lys		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.E729K	ENST00000437633.1	37	c.2185	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.531491	0.96446	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03152	4.03;4.04	5.65	5.65	0.86999	.	0.049954	0.85682	D	0.000000	T	0.14227	0.0344	L	0.50919	1.6	0.80722	D	1	D;D;P;D	0.71674	0.998;0.993;0.768;0.992	D;P;B;D	0.65684	0.937;0.901;0.418;0.933	T	0.00408	-1.1758	10	0.39692	T	0.17	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	729;729;729;729	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	K	717;729;729;717;728	ENSP00000410746:E729K;ENSP00000404179:E729K	ENSP00000345432:E717K	E	-	1	0	DOCK4	111295371	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.445000	0.80570	2.826000	0.97356	0.563000	0.77884	GAG	DOCK4	-	NULL		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	C	NM_014705		111508135	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111508135	C	T	111508135	3	4	7	1	0	0	0	0	1	0	0	0	4699	922	32	1	3839	1	DOCK4	7	111508135	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	46643480	111508135	47630528	46	604										
CUL1	8454	genome.wustl.edu	37	chr7	148487457	148487457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cgccagccgccacagtggccGaaaattgacgtggttatatc	11	12	0	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:148487457G>A	ENST00000325222.4	+	16	2009	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	CUL1_ENST00000409469.1_Missense_Mutation_p.R577Q|CUL1_ENST00000602748.1_Missense_Mutation_p.R577Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	577					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CACAGTGGCCGAAAATTGACG	0.383																																																	0													89	87	87					7																	148487457		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1730G>A	7.37:g.148487457G>A	ENSP00000326804:p.Arg577Gln		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R577Q	ENST00000325222.4	37	c.1730	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944634	0.92593	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.87729	-2.29;-2.29	5.07	5.07	0.68467	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98091	1.0409	10	0.87932	D	0	-19.8332	18.4658	0.90753	0.0:0.0:1.0:0.0	.	504;577	E7EWR0;Q13616	.;CUL1_HUMAN	Q	577;577;535;504	ENSP00000387160:R577Q;ENSP00000326804:R577Q	ENSP00000326804:R577Q	R	+	2	0	CUL1	148118390	1.000000	0.71417	0.076000	0.20297	0.615000	0.37417	9.538000	0.98072	2.359000	0.80004	0.655000	0.94253	CGA	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.383	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148487457	1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	0.995	A	A	148487457	G	A	148487457	3	1	7	1	0	0	0	0	1	0	0	0	4059	1058	37	1	1788	1	CUL1	7	148487457	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	36979322	148487457	10651206	47	605										
VPS13A	23230	genome.wustl.edu	37	chr9	79840896	79840896	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctatagctagacagacggcaGaagttgaggtaattcttggc	12	7	1	4			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:79840896G>T	ENST00000360280.3	+	14	1476	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E406*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E406*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E406*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	406					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGACGGCAGAAGTTGAGGT	0.264																																																	0													83	91	89					9																	79840896		2203	4286	6489	SO:0001587	stop_gained	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1216G>T	9.37:g.79840896G>T	ENSP00000353422:p.Glu406*		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E406*	ENST00000360280.3	37	c.1216	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.018290	0.98613	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.51	5.51	0.81932	.	0.055266	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.0076	0.92857	0.0:0.0:1.0:0.0	.	.	.	.	X	406	.	ENSP00000349985:E406X	E	+	1	0	VPS13A	79030716	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.644000	0.74338	2.588000	0.87417	0.585000	0.79938	GAA	VPS13A	-	NULL		0.264	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79840896	1	no_errors	ENST00000360280	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	79840896	G	T	79840896	4	4	7	1	0	0	0	0	0	1	0	0	17220	943	33	3	1270	3	VPS13A	9	79840896	Nonsense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		79840896	61372535	48	606										
CTSL2	1515	genome.wustl.edu	37	chr9	99795320	99795320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	atagccattcgagccccattCtggaccccagctgaaagagg	10	13	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:99795320C>G	ENST00000259470.5	-	8	1165	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	CTSV_ENST00000538255.1_Missense_Mutation_p.E306Q	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	306					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GAGCCCCATTCTGGACCCCAG	0.433																																																	0													99	89	92					9																	99795320		2203	4300	6503	SO:0001583	missense	1515			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.916G>C	9.37:g.99795320C>G	ENSP00000259470:p.Glu306Gln		O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E306Q	ENST00000259470.5	37	c.916	CCDS6723.1	9	.	.	.	.	.	.	.	.	.	.	C	4.777	0.144570	0.09134	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.22539	1.95;1.95	3.81	-1.67	0.08238	Peptidase C1A, papain C-terminal (2);	0.344964	0.32218	N	0.006407	T	0.08447	0.0210	N	0.13043	0.29	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.28459	-1.0043	9	.	.	.	.	5.0284	0.14396	0.0:0.312:0.1637:0.5243	.	306	O60911	CATL2_HUMAN	Q	306	ENSP00000259470:E306Q;ENSP00000445052:E306Q	.	E	-	1	0	CTSL2	98835141	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.257000	0.18369	-0.313000	0.08728	0.563000	0.77884	GAA	CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.433	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	C	NM_001333		99795320	-1	no_errors	ENST00000259470	ensembl	human	known	70_37	missense	SNP	0.000	G	G	99795320	C	G	99795320	3	3	7	1	0	0	0	0	1	0	0	0	4044	922	32	1	92	1	CTSL2	9	99795320	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	19954424	99795320	41418111	49	607										
SPTAN1	6709	genome.wustl.edu	37	chr9	131331147	131331147	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctggaaacctgatgatctcaGaagggcattttgcatctgaa	10	8	2	4			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:131331147G>A	ENST00000372731.4	+	3	444	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E112K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E112K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	112					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GATGATCTCAGAAGGGCATTT	0.468																																					NSCLC(120;833 1744 2558 35612 37579)												0													115	105	109					9																	131331147		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.334G>A	9.37:g.131331147G>A	ENSP00000361816:p.Glu112Lys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E112K	ENST00000372731.4	37	c.334	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.315517	0.95655	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52754	0.65;0.65;0.65	5.87	5.87	0.94306	.	0.047883	0.85682	D	0.000000	T	0.62974	0.2472	L	0.45285	1.41	0.80722	D	1	P;D;P;P;P	0.65815	0.708;0.995;0.651;0.624;0.471	P;D;B;B;B	0.70935	0.585;0.971;0.269;0.291;0.3	T	0.57458	-0.7808	10	0.44086	T	0.13	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	112;112;112;112;112	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	112	ENSP00000350882:E112K;ENSP00000361816:E112K;ENSP00000361824:E112K	ENSP00000350882:E112K	E	+	1	0	SPTAN1	130370968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GAA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131331147	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131331147	G	A	131331147	3	1	7	1	0	0	0	0	1	0	0	0	15147	943	33	1	340	1	SPTAN1	9	131331147	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	31535827	131331147	9882284	50	608										
TOR1A	1861	genome.wustl.edu	37	chr9	132576379	132576379	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tacaatgtcttcatcaatttCatagcctcgggactgcattt	6	10	4	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:132576379C>G	ENST00000351698.4	-	5	919	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	291	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TCATCAATTTCATAGCCTCGG	0.433																																																	0													211	200	204					9																	132576379		2203	4300	6503	SO:0001583	missense	1861			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.871G>C	9.37:g.132576379C>G	ENSP00000345719:p.Glu291Gln		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,pirsf_Torsin_subgr	p.E291Q	ENST00000351698.4	37	c.871	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457644	0.12342	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.63913	-0.07	5.27	5.27	0.74061	.	0.592730	0.18353	N	0.143809	T	0.52338	0.1728	L	0.34521	1.04	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.27839	-1.0062	10	0.15952	T	0.53	-13.0814	17.8532	0.88754	0.0:1.0:0.0:0.0	.	291	O14656	TOR1A_HUMAN	Q	260;291	ENSP00000345719:E291Q	ENSP00000345719:E291Q	E	-	1	0	TOR1A	131616200	0.000000	0.05858	0.014000	0.15608	0.458000	0.32498	-0.117000	0.10708	2.439000	0.82584	0.561000	0.74099	GAA	TOR1A	-	pirsf_Torsin_subgr		0.433	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	C	NM_000113		132576379	-1	no_errors	ENST00000351698	ensembl	human	known	70_37	missense	SNP	0.018	G	G	132576379	C	G	132576379	3	3	7	1	0	0	0	0	1	0	0	0	16402	835	29	1	131	1	TOR1A	9	132576379	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	1245232	132576379	8637052	51	609										
SETX	23064	genome.wustl.edu	37	chr9	135202135	135202135	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gagacggtgaaagtgctgaaGaagtttccaaagatttagaa	12	4	0	6	rs572037695		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:135202135G>A	ENST00000224140.5	-	10	5032	c.4850C>T	c.(4849-4851)tCt>tTt	p.S1617F	SETX_ENST00000372169.2_Missense_Mutation_p.S1617F|SETX_ENST00000393220.1_Missense_Mutation_p.S1617F	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1617					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGTGCTGAAGAAGTTTCCAA	0.418													G|||	1	0.000199681	8e-04	0	5008	,	,		19658	0		0	False		,,,				2504	0																0													103	99	101					9																	135202135		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4850C>T	9.37:g.135202135G>A	ENSP00000224140:p.Ser1617Phe		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.S1617F	ENST00000224140.5	37	c.4850	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544179	0.04024	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86865	-2.1;-2.18;-1.79	4.72	2.72	0.32119	.	1.434360	0.04093	N	0.311622	T	0.76205	0.3955	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18610	0.029;0.002;0.007	B;B;B	0.18561	0.022;0.002;0.01	T	0.62369	-0.6869	10	0.09338	T	0.73	.	4.9206	0.13867	0.2891:0.1842:0.5267:0.0	.	1617;1617;1617	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	F	1617	ENSP00000224140:S1617F;ENSP00000361242:S1617F;ENSP00000376913:S1617F	ENSP00000224140:S1617F	S	-	2	0	SETX	134191956	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.193000	0.17116	0.991000	0.38814	0.655000	0.94253	TCT	SETX	-	NULL		0.418	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135202135	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	missense	SNP	0.000	A	A	135202135	G	A	135202135	3	1	7	1	0	0	0	0	1	0	0	0	14171	942	33	1	3251	1	SETX	9	135202135	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	2625756	135202135	6011296	52	610										
C9orf171	389799	genome.wustl.edu	37	chr9	135285786	135285786	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaccgtggcggacatccgttCcggcatggagaacgagcggc	16	12	0	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:135285786C>G	ENST00000343036.2	+	1	176	c.128C>G	c.(127-129)tCc>tGc	p.S43C	C9orf171_ENST00000393215.3_Missense_Mutation_p.S43C|C9orf171_ENST00000393216.2_Missense_Mutation_p.S43C	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	43										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACATCCGTTCCGGCATGGAG	0.687																																																	0													17	15	16					9																	135285786		2117	4193	6310	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.128C>G	9.37:g.135285786C>G	ENSP00000343290:p.Ser43Cys		Q147X1	Missense_Mutation	SNP	NULL	p.S43C	ENST00000343036.2	37	c.128	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748082	0.49257	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.35236	1.32;1.86;1.74	4.91	4.91	0.64330	.	0.423390	0.22027	N	0.065656	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B	0.31351	0.32;0.188	B;B	0.33392	0.117;0.163	T	0.30179	-0.9987	10	0.66056	D	0.02	.	14.8661	0.70416	0.0:1.0:0.0:0.0	.	43;43	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	C	43	ENSP00000376908:S43C;ENSP00000343290:S43C;ENSP00000376909:S43C	ENSP00000343290:S43C	S	+	2	0	C9orf171	134275607	0.011000	0.17503	0.881000	0.34555	0.885000	0.51271	1.865000	0.39479	2.272000	0.75746	0.306000	0.20318	TCC	C9orf171	-	NULL		0.687	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	C	NM_207417		135285786	1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	0.216	G	G	135285786	C	G	135285786	3	3	7	1	0	0	0	0	1	0	0	0	2475	855	30	1	130	1	C9orf171	9	135285786	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	83651	135285786	5927645	53	611										
PLCE1	51196	genome.wustl.edu	37	chr10	95848926	95848926	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aggcagctccacgtgagattCtgcaaagggattaagatttg	12	7	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr10:95848926C>T	ENST00000371380.3	+	2	1441				PLCE1_ENST00000371385.3_Silent_p.F25F|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371375.1_Silent_p.F25F|RP11-429H9.4_ENST00000438899.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGTGAGATTCTGCAAAGGGA	0.522																																																	0													115	108	110					10																	95848926		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-43005C>T	10.37:g.95848926C>T			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.F25	ENST00000371380.3	37	c.75	CCDS41552.1	10																																																																																			PLCE1	-	NULL		0.522	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95848926	1	no_errors	ENST00000371375	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95848926	C	T	95848926	1	4	7	0	1	0	0	0	0	0	0	0	12058	912	32	1		1	PLCE1	10	95848926	Intron	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		95848926	39685821	54	612										
MICALCL	84953	genome.wustl.edu	37	chr11	12316100	12316100	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaagatgtccccacactcctCgagaaagtgagtttgcaaga	10	10	0	4			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:12316100C>T	ENST00000256186.2	+	3	1413	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCACACTCCTCGAGAAAGTGA	0.493																																																	0													115	122	120					11																	12316100		1933	4138	6071	SO:0001819	synonymous_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1122C>T	11.37:g.12316100C>T			Q7RTP7|Q96JU6	Silent	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.L374	ENST00000256186.2	37	c.1122	CCDS41620.1	11																																																																																			MICALCL	-	smart_Fertility_inhib_FinO/ProQ		0.493	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	C	NM_032867		12316100	1	no_errors	ENST00000256186	ensembl	human	known	70_37	silent	SNP	0.158	T	T	12316100	C	T	12316100	2	4	7	1	0	0	0	0	0	0	0	1	9595	871	31	1		1	MICALCL	11	12316100	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		12316100	122690416	55	613										
SYT7	9066	genome.wustl.edu	37	chr11	61300491	61300491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tcgctggtgagggagttgacGaggtctgagacggaggaacg	19	6	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:61300491G>A	ENST00000263846.4	-	4	648	c.321C>T	c.(319-321)ctC>ctT	p.L107L	SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Silent_p.L151L|SYT7_ENST00000540677.1_Silent_p.L182L|SYT7_ENST00000535826.1_Silent_p.L226L|SYT7_ENST00000539008.1_Silent_p.L390L|SYT7_ENST00000542670.1_Silent_p.L315L	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	107					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGAGTTGACGAGGTCTGAGA	0.647																																																	0													111	99	103					11																	61300491		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.321C>T	11.37:g.61300491G>A			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L107	ENST00000263846.4	37	c.321	CCDS31577.1	11																																																																																			SYT7	-	NULL		0.647	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61300491	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	0.998	A	A	61300491	G	A	61300491	2	1	7	1	0	0	0	0	0	0	0	1	15509	1045	37	1		1	SYT7	11	61300491	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	48984391	61300491	73706025	56	614										
CLPB	81570	genome.wustl.edu	37	chr11	72005439	72005439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agtggcagaaggggaggaagTagacgatctcattgatccgt	15	6	1	3	rs150857620		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:72005439T>C	ENST00000294053.3	-	15	1873	c.1700A>G	c.(1699-1701)tAc>tGc	p.Y567C	CLPB_ENST00000538021.1_Missense_Mutation_p.Y175C|CLPB_ENST00000340729.5_Missense_Mutation_p.Y508C|CLPB_ENST00000543042.1_Missense_Mutation_p.Y366C|CLPB_ENST00000538039.1_Missense_Mutation_p.Y537C|CLPB_ENST00000437826.2_Missense_Mutation_p.Y522C	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	567					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGGGAGGAAGTAGACGATCTC	0.567																																																	0								T	CYS/TYR	0,4400		0,0,2200	86	81	83		1700	5.9	1	11	dbSNP_134	83	1,8585	1.2+/-3.3	0,1,4292	no	missense	CLPB	NM_030813.3	194	0,1,6492	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	567/708	72005439	1,12985	2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1700A>G	11.37:g.72005439T>C	ENSP00000294053:p.Tyr567Cys		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B	p.Y567C	ENST00000294053.3	37	c.1700	CCDS8215.1	11	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324844	0.81580	0.0	1.16E-4	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.88	5.88	0.94601	.	0.059057	0.64402	D	0.000001	T	0.61726	0.2370	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.984;0.998;0.984;0.982;0.999;0.98	T	0.68750	-0.5326	10	0.87932	D	0	-17.2561	15.1142	0.72388	0.0:0.0:0.0:1.0	.	366;508;522;537;567;175	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777	.;.;.;.;CLPB_HUMAN;.	C	567;537;572;508;522;366;175	ENSP00000294053:Y567C;ENSP00000441518:Y537C;ENSP00000443822:Y572C;ENSP00000340385:Y508C;ENSP00000407296:Y522C;ENSP00000439746:Y366C;ENSP00000445180:Y175C	ENSP00000294053:Y567C	Y	-	2	0	CLPB	71683087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.898000	0.87363	2.243000	0.73865	0.533000	0.62120	TAC	CLPB	-	NULL		0.567	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1	T	NM_030813		72005439	-1	no_errors	ENST00000294053	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72005439	T	C	72005439	3	2	7	1	0	0	0	0	1	0	0	0	3556	1638	57	5	435	5	CLPB	11	72005439	Missense_Mutation	SNP	T	TCGA-C5-A1BI-01B-11D-A13W-08	10704948	72005439	63001077	57	615										
PIWIL4	143689	genome.wustl.edu	37	chr11	94326762	94326762	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agaagagaaatgacaacagtGaggctcagctcgcccacctg	11	11	1	4			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:94326762G>A	ENST00000299001.6	+	9	1316	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	369	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGACAACAGTGAGGCTCAGCT	0.428																																																	0													147	146	146					11																	94326762		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1105G>A	11.37:g.94326762G>A	ENSP00000299001:p.Glu369Lys		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.E369K	ENST00000299001.6	37	c.1105	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	G	2.965	-0.213778	0.06140	.	.	ENSG00000134627	ENST00000299001	T	0.03889	3.77	4.77	4.77	0.60923	Argonaute/Dicer protein, PAZ (4);	0.091946	0.45361	D	0.000366	T	0.05914	0.0154	L	0.41710	1.295	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.38286	-0.9668	10	0.25106	T	0.35	-19.2946	15.656	0.77136	0.0:0.0:1.0:0.0	.	369	Q7Z3Z4	PIWL4_HUMAN	K	369	ENSP00000299001:E369K	ENSP00000299001:E369K	E	+	1	0	PIWIL4	93966410	0.998000	0.40836	0.015000	0.15790	0.011000	0.07611	4.936000	0.63506	2.356000	0.79943	0.462000	0.41574	GAG	PIWIL4	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ		0.428	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	G	NM_152431		94326762	1	no_errors	ENST00000299001	ensembl	human	known	70_37	missense	SNP	0.441	A	A	94326762	G	A	94326762	3	1	7	1	0	0	0	0	1	0	0	0	11984	1291	45	1	1139	1	PIWIL4	11	94326762	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	22321323	94326762	40679754	58	616										
DDI1	414301	genome.wustl.edu	37	chr11	103908368	103908368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cattatgagccaggcttgtgCcgagcgatgtaacatcatga	11	9	1	2	rs140727572		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:103908368C>T	ENST00000302259.3	+	1	1061	c.818C>T	c.(817-819)gCc>gTc	p.A273V	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	273							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAGGCTTGTGCCGAGCGATGT	0.522																																																	0													95	94	94					11																	103908368		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.818C>T	11.37:g.103908368C>T	ENSP00000302805:p.Ala273Val		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.A273V	ENST00000302259.3	37	c.818	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894314	0.72639	.	.	ENSG00000170967	ENST00000302259	T	0.59772	0.24	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.82167	0.4978	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86226	0.1634	10	0.87932	D	0	-13.2865	16.6709	0.85266	0.0:1.0:0.0:0.0	.	273	Q8WTU0	DDI1_HUMAN	V	273	ENSP00000302805:A273V	ENSP00000302805:A273V	A	+	2	0	DDI1	103413578	1.000000	0.71417	0.946000	0.38457	0.183000	0.23260	6.981000	0.76166	2.884000	0.98904	0.655000	0.94253	GCC	DDI1	-	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic		0.522	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	C	NM_001001711		103908368	1	no_errors	ENST00000302259	ensembl	human	known	70_37	missense	SNP	0.999	T	T	103908368	C	T	103908368	3	4	7	1	0	0	0	0	1	0	0	0	4333	739	26	4	820	4	DDI1	11	103908368	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	9581606	103908368	31098148	59	617										
SIK2	23235	genome.wustl.edu	37	chr11	111572232	111572232	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gctctgccctttgatggaccGactcttccaattttgaggca	9	12	2	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:111572232G>A	ENST00000304987.3	+	6	833	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGATGGACCGACTCTTCCAA	0.418																																																	0													242	215	224					11																	111572232		2201	4297	6498	SO:0001819	synonymous_variant	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.660G>A	11.37:g.111572232G>A			A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P220	ENST00000304987.3	37	c.660	CCDS8347.1	11																																																																																			SIK2	-	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.418	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	G	NM_015191		111572232	1	no_errors	ENST00000304987	ensembl	human	known	70_37	silent	SNP	0.000	A	A	111572232	G	A	111572232	2	1	7	1	0	0	0	0	0	0	0	1	14348	1045	37	1		1	SIK2	11	111572232	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	7663864	111572232	23434284	60	618										
BACE1	23621	genome.wustl.edu	37	chr11	117163829	117163829	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cacccgcacaatgatcacctCataataccactcccgccgga	5	18	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:117163829C>T	ENST00000313005.6	-	5	1241	c.781G>A	c.(781-783)Gag>Aag	p.E261K	BACE1_ENST00000392937.6_Missense_Mutation_p.E161K|BACE1_ENST00000513780.1_Missense_Mutation_p.E236K|BACE1_ENST00000510630.1_Missense_Mutation_p.E136K|BACE1_ENST00000445823.2_Missense_Mutation_p.E217K|BACE1_ENST00000428381.2_Missense_Mutation_p.E192K|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_Missense_Mutation_p.E261K	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	261					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGATCACCTCATAATACCAC	0.507																																																	0													234	223	227					11																	117163829		2201	4296	6497	SO:0001583	missense	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.781G>A	11.37:g.117163829C>T	ENSP00000318585:p.Glu261Lys		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Peptidase_A1	p.E261K	ENST00000313005.6	37	c.781	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.177058	0.97352	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823;ENST00000292095	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	6.07	6.07	0.98685	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.70595	2.14	0.80722	D	1	D;P;D;P;D;D	0.89917	0.965;0.866;0.992;0.533;1.0;0.959	P;P;P;B;D;P	0.70716	0.624;0.507;0.874;0.233;0.97;0.662	T	0.73135	-0.4078	10	0.66056	D	0.02	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	161;136;261;217;192;236	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.;.;BACE1_HUMAN;.;.;.	K	261;161;261;136;192;236;217;27	ENSP00000318585:E261K;ENSP00000431848:E261K;ENSP00000422461:E136K;ENSP00000402228:E192K;ENSP00000424536:E236K;ENSP00000403685:E217K	ENSP00000292095:E27K	E	-	1	0	BACE1	116669039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.396000	0.59684	2.884000	0.98904	0.655000	0.94253	GAG	BACE1	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.507	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	HGNC	protein_coding	OTTHUMT00000361505.1	C			117163829	-1	no_errors	ENST00000313005	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117163829	C	T	117163829	3	4	7	1	0	0	0	0	1	0	0	0	1282	835	29	1	744	1	BACE1	11	117163829	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	5591597	117163829	17842687	61	619										
ROBO3	64221	genome.wustl.edu	37	chr11	124743605	124743605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cactgcagaagactggggagTatcaccagacccccctacag	10	14	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:124743605T>C	ENST00000397801.1	+	11	1823	c.1631T>C	c.(1630-1632)gTa>gCa	p.V544A	ROBO3_ENST00000538940.1_Missense_Mutation_p.V522A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	544					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GACTGGGGAGTATCACCAGAC	0.522																																																	0													32	36	35					11																	124743605		1856	4091	5947	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1631T>C	11.37:g.124743605T>C	ENSP00000380903:p.Val544Ala			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V544A	ENST00000397801.1	37	c.1631	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.288870	0.01387	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.63255	-0.03;-0.03	4.92	-2.69	0.06022	.	0.692570	0.11807	N	0.527593	T	0.18087	0.0434	N	0.00778	-1.195	0.19300	N	0.999975	B	0.06786	0.001	B	0.04013	0.001	T	0.32268	-0.9913	10	0.02654	T	1	.	0.8709	0.01213	0.1756:0.2483:0.3349:0.2413	.	544	Q96MS0	ROBO3_HUMAN	A	544;522	ENSP00000380903:V544A;ENSP00000441797:V522A	ENSP00000380903:V544A	V	+	2	0	ROBO3	124248815	0.000000	0.05858	0.077000	0.20336	0.831000	0.47069	-0.592000	0.05747	-0.234000	0.09782	0.460000	0.39030	GTA	ROBO3	-	NULL		0.522	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	T	XM_370663		124743605	1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	0.012	C	C	124743605	T	C	124743605	3	2	7	1	0	0	0	0	1	0	0	0	13545	1638	57	5	1673	5	ROBO3	11	124743605	Missense_Mutation	SNP	T	TCGA-C5-A1BI-01B-11D-A13W-08	7579776	124743605	10262911	62	620										
IQSEC3	440073	genome.wustl.edu	37	chr12	274981	274981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tctgtgccctgggctcggacGagatgcagaagttcgtggag	16	9	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:274981G>A	ENST00000538872.1	+	11	3014	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	IQSEC3_ENST00000382841.2_Missense_Mutation_p.E663K|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.E966K|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	966	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGGCTCGGACGAGATGCAGAA	0.582																																																	0													77	73	74					12																	274981		2203	4300	6503	SO:0001583	missense	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2896G>A	12.37:g.274981G>A	ENSP00000437554:p.Glu966Lys		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.E966K	ENST00000538872.1	37	c.2896	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609791	0.87258	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.40476	1.03;1.03;1.03	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.150473	0.64402	D	0.000018	T	0.64349	0.2590	M	0.75264	2.295	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.61533	0.89;0.847	T	0.67791	-0.5579	10	0.87932	D	0	.	19.5308	0.95228	0.0:0.0:1.0:0.0	.	966;663	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	K	966;966;663	ENSP00000437554:E966K;ENSP00000315662:E966K;ENSP00000372292:E663K	ENSP00000315662:E966K	E	+	1	0	IQSEC3	145242	1.000000	0.71417	0.962000	0.40283	0.216000	0.24613	9.805000	0.99149	2.684000	0.91462	0.650000	0.86243	GAG	IQSEC3	-	NULL		0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	G	XM_495902		274981	1	no_errors	ENST00000326261	ensembl	human	known	70_37	missense	SNP	1.000	A	A	274981	G	A	274981	3	1	7	1	0	0	0	0	1	0	0	0	7839	1059	37	1	2938	1	IQSEC3	12	274981	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		274981	133576914	63	621										
CHD4	1108	genome.wustl.edu	37	chr12	6710828	6710828	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttttacctgacaaactggctGaaggccttgtagttggtgag	12	7	0	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:6710828G>A	ENST00000357008.2	-	5	706	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CHD4_ENST00000544484.1_Silent_p.F178F|CHD4_ENST00000544040.1_Silent_p.F174F|CHD4_ENST00000309577.6_Silent_p.F181F	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	181					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAAACTGGCTGAAGGCCTTGT	0.453																																					Colon(32;586 792 4568 16848 45314)												0													264	273	270					12																	6710828		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.543C>T	12.37:g.6710828G>A			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.F181	ENST00000357008.2	37	c.543	CCDS8552.1	12																																																																																			CHD4	-	pfam_CHD_N,superfamily_HMG_superfamily		0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		G	NM_001273		6710828	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6710828	G	A	6710828	2	1	7	1	0	0	0	0	0	0	0	1	3332	1281	45	1		1	CHD4	12	6710828	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	6435847	6710828	127141067	64	622										
NANOG	79923	genome.wustl.edu	37	chr12	7945646	7945646	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	acttctgcagagaagagtgtCgcaaaaaaggaagacaaggt	12	6	1	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:7945646C>T	ENST00000229307.4	+	2	471	c.252C>T	c.(250-252)gtC>gtT	p.V84V	NANOG_ENST00000526286.1_Silent_p.V84V	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	84					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AGAAGAGTGTCGCAAAAAAGG	0.478																																																	0													70	63	65					12																	7945646		2202	4295	6497	SO:0001819	synonymous_variant	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.252C>T	12.37:g.7945646C>T			D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V84	ENST00000229307.4	37	c.252	CCDS31736.1	12																																																																																			NANOG	-	NULL		0.478	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOG	HGNC	protein_coding	OTTHUMT00000387480.2	C	NM_024865		7945646	1	no_errors	ENST00000229307	ensembl	human	known	70_37	silent	SNP	0.000	T	T	7945646	C	T	7945646	2	4	7	1	0	0	0	0	0	0	0	1	10173	871	31	1		1	NANOG	12	7945646	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	1234818	7945646	125906249	65	623										
LASS5	91012	genome.wustl.edu	37	chr12	50528463	50528463	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cccgattatctcccaactctCaaagagggtcgtgttcagaa	8	12	3	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:50528463C>T	ENST00000317551.6	-	9	1019	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CERS5_ENST00000422340.2_Missense_Mutation_p.E241K	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	299	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TCCCAACTCTCAAAGAGGGTC	0.512																																																	0													108	106	107					12																	50528463		2203	4300	6503	SO:0001583	missense	91012				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.895G>A	12.37:g.50528463C>T	ENSP00000325485:p.Glu299Lys		B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.E299K	ENST00000317551.6	37	c.895	CCDS8801.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.558728	0.96514	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.85088	-1.94;-1.94;-1.94	5.01	5.01	0.66863	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.78223	2.4	0.80722	D	1	D;B;P	0.76494	0.999;0.238;0.929	D;B;P	0.73708	0.981;0.159;0.614	D	0.88908	0.3357	10	0.22109	T	0.4	-16.3192	18.9053	0.92458	0.0:1.0:0.0:0.0	.	241;299;218	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	K	218;299;241	ENSP00000447556:E218K;ENSP00000325485:E299K;ENSP00000389050:E241K	ENSP00000325485:E299K	E	-	1	0	CERS5	48814730	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.493000	0.81493	2.785000	0.95823	0.655000	0.94253	GAG	CERS5	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.512	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	C	NM_147190		50528463	-1	no_errors	ENST00000317551	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50528463	C	T	50528463	3	4	7	1	0	0	0	0	1	0	0	0	8662	835	29	1	291	1	LASS5	12	50528463	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	42582817	50528463	83323432	66	624										
ITGA7	3679	genome.wustl.edu	37	chr12	56087878	56087878	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tctcgcccctcaccacaccaGagaagaagagttgctgggga	11	13	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:56087878G>A	ENST00000555728.1	-	20	2622	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ITGA7_ENST00000394229.2_Missense_Mutation_p.S821F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S821F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S815F|ITGA7_ENST00000452168.2_Missense_Mutation_p.S728F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S825F|ITGA7_ENST00000394230.2_Missense_Mutation_p.S825F|ITGA7_ENST00000257880.7_Missense_Mutation_p.S865F			Q13683	ITA7_HUMAN	integrin, alpha 7	865					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACCACACCAGAGAAGAAGAG	0.602																																																	0													144	98	114					12																	56087878		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2594C>T	12.37:g.56087878G>A	ENSP00000452387:p.Ser865Phe		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S865F	ENST00000555728.1	37	c.2594		12	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560128	0.45590	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.37	4.47	0.54385	Integrin alpha-2 (1);	0.150255	0.47455	D	0.000225	T	0.64571	0.2610	M	0.73217	2.22	0.47698	D	0.99949	D;D;D;D	0.89917	0.962;0.969;0.982;1.0	D;D;D;D	0.91635	0.95;0.921;0.934;0.999	T	0.67162	-0.5740	10	0.87932	D	0	.	9.3253	0.37988	0.0:0.1582:0.6778:0.164	.	728;865;825;884	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	F	825;821;815;728;865;825;821;694;865	ENSP00000452120:S825F;ENSP00000257879:S821F;ENSP00000343009:S815F;ENSP00000393844:S728F;ENSP00000257880:S865F;ENSP00000377777:S825F;ENSP00000377776:S821F;ENSP00000452387:S865F	ENSP00000257879:S821F	S	-	2	0	ITGA7	54374145	1.000000	0.71417	0.947000	0.38551	0.203000	0.24098	4.877000	0.63086	1.374000	0.46228	-0.282000	0.10007	TCT	ITGA7	-	pfam_Integrin_alpha-2		0.602	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56087878	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	missense	SNP	0.996	A	A	56087878	G	A	56087878	3	1	7	1	0	0	0	0	1	0	0	0	7901	942	33	1	979	1	ITGA7	12	56087878	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	5559415	56087878	77764017	67	625										
TAOK3	51347	genome.wustl.edu	37	chr12	118615108	118615108	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aagatctgttgctggaacttCttctcatctgctgcagctac	8	11	4	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:118615108C>T	ENST00000392533.3	-	16	2083	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	TAOK3_ENST00000537952.1_Silent_p.K71K|TAOK3_ENST00000419821.2_Silent_p.K531K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	531					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGAACTTCTTCTCATCTG	0.353																																																	0													143	138	139					12																	118615108		2203	4300	6503	SO:0001819	synonymous_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1593G>A	12.37:g.118615108C>T			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K531	ENST00000392533.3	37	c.1593	CCDS9188.1	12																																																																																			TAOK3	-	NULL		0.353	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	C	NM_016281		118615108	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118615108	C	T	118615108	2	4	7	1	0	0	0	0	0	0	0	1	15579	912	32	1		1	TAOK3	12	118615108	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	62527230	118615108	15236787	68	626										
FRY	10129	genome.wustl.edu	37	chr13	32836601	32836601	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tgaataatctgcagatttctGagggttcaaaggtgaagaga	12	4	3	5			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr13:32836601G>A	ENST00000380250.3	+	53	8264	c.7768G>A	c.(7768-7770)Gag>Aag	p.E2590K	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2590						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGATTTCTGAGGGTTCAAA	0.398																																																	0													85	81	82					13																	32836601		1857	4108	5965	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7768G>A	13.37:g.32836601G>A	ENSP00000369600:p.Glu2590Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2590K	ENST00000380250.3	37	c.7768	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746114	0.89663	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.23552	1.9	6.03	6.03	0.97812	.	0.099552	0.64402	D	0.000002	T	0.30448	0.0765	L	0.50333	1.59	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.02617	-1.1133	10	0.54805	T	0.06	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	371;2590	Q8NB82;Q5TBA9	.;FRY_HUMAN	K	2590;234	ENSP00000369600:E2590K	ENSP00000369567:E234K	E	+	1	0	FRY	31734601	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.666000	0.74446	2.861000	0.98227	0.655000	0.94253	GAG	FRY	-	NULL		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32836601	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32836601	G	A	32836601	3	1	7	1	0	0	0	0	1	0	0	0	6081	1291	45	1	7978	1	FRY	13	32836601	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		32836601	82333277	69	627										
ITGBL1	9358	genome.wustl.edu	37	chr13	102344970	102344970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gcaaatgcacctgctatcctCcaggagatcgccgggtgtat	11	12	0	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr13:102344970C>T	ENST00000376180.3	+	8	1270	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	ITGBL1_ENST00000376162.3_Missense_Mutation_p.P258S|ITGBL1_ENST00000545560.2_Missense_Mutation_p.P210S	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	351	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTATCCTCCAGGAGATCG	0.483																																																	0													219	181	194					13																	102344970		2203	4300	6503	SO:0001583	missense	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1051C>T	13.37:g.102344970C>T	ENSP00000365351:p.Pro351Ser		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.P351S	ENST00000376180.3	37	c.1051	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341914	0.41498	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.84589	-1.87;-1.87;-1.87	5.51	5.51	0.81932	EGF, extracellular (1);	0.050856	0.85682	D	0.000000	T	0.79885	0.4523	L	0.33710	1.025	0.80722	D	1	B;B	0.26744	0.134;0.158	B;B	0.32090	0.03;0.14	T	0.73830	-0.3859	10	0.17832	T	0.49	.	16.7006	0.85349	0.0:1.0:0.0:0.0	.	210;351	B3KTP1;O95965	.;ITGBL_HUMAN	S	351;259;210;210;258	ENSP00000365351:P351S;ENSP00000439903:P210S;ENSP00000365332:P258S	ENSP00000365332:P258S	P	+	1	0	ITGBL1	101142971	0.998000	0.40836	0.204000	0.23530	0.906000	0.53458	4.977000	0.63792	2.765000	0.95021	0.655000	0.94253	CCA	ITGBL1	-	pfam_EGF_extracell		0.483	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	C	NM_004791		102344970	1	no_errors	ENST00000376180	ensembl	human	known	70_37	missense	SNP	0.914	T	T	102344970	C	T	102344970	3	4	7	1	0	0	0	0	1	0	0	0	7922	855	30	1	1081	1	ITGBL1	13	102344970	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	69508369	102344970	12824908	70	628										
EDDM3A	10876	genome.wustl.edu	37	chr14	21216063	21216063	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtactcgagtgtcactgggaGaagtacaacaataggtacac	11	8	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:21216063G>C	ENST00000326842.2	+	2	451	c.324G>C	c.(322-324)gaG>gaC	p.E108D		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	108					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCACTGGGAGAAGTACAACA	0.448																																																	0													88	74	79					14																	21216063		2203	4300	6503	SO:0001583	missense	10876			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.324G>C	14.37:g.21216063G>C	ENSP00000315098:p.Glu108Asp		Q4KN33	Missense_Mutation	SNP	superfamily_RNaseA_domain	p.E108D	ENST00000326842.2	37	c.324	CCDS9556.1	14	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556026	0.45487	.	.	ENSG00000181562	ENST00000326842	T	0.73363	-0.74	2.46	1.39	0.22231	Ribonuclease A, domain (2);	1.486010	0.04170	N	0.324609	T	0.74450	0.3718	L	0.53249	1.67	0.09310	N	1	P	0.41569	0.755	P	0.46208	0.507	T	0.63400	-0.6646	10	0.62326	D	0.03	.	5.6559	0.17642	0.0:0.0:0.6785:0.3215	.	108	Q14507	EP3A_HUMAN	D	108	ENSP00000315098:E108D	ENSP00000315098:E108D	E	+	3	2	EDDM3A	20285903	0.000000	0.05858	0.011000	0.14972	0.173000	0.22820	-0.003000	0.12901	1.360000	0.45960	0.313000	0.20887	GAG	EDDM3A	-	superfamily_RNaseA_domain		0.448	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3A	HGNC	protein_coding	OTTHUMT00000073742.3	G			21216063	1	no_errors	ENST00000326842	ensembl	human	known	70_37	missense	SNP	0.004	C	C	21216063	G	C	21216063	3	2	7	1	0	0	0	0	1	0	0	0	4919	933	33	1	326	1	EDDM3A	14	21216063	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		21216063	86133477	71	629										
MYH7	4625	genome.wustl.edu	37	chr14	23900167	23900167	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaaaatgtgataatctctctCtgctttcagctggaaaataa	7	7	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:23900167C>T	ENST00000355349.3	-	10	1000	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	280	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TAATCTCTCTCTGCTTTCAGC	0.448																																																	0													105	114	111					14																	23900167		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.838G>A	14.37:g.23900167C>T	ENSP00000347507:p.Glu280Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E280K	ENST00000355349.3	37	c.838	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351490	0.61183	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.97959	-4.63	3.62	3.62	0.41486	Myosin head, motor domain (2);	.	.	.	.	D	0.98947	0.9642	H	0.99859	4.855	0.80722	D	1	B	0.12630	0.006	B	0.35655	0.207	D	0.99941	1.1409	9	0.87932	D	0	.	15.4652	0.75394	0.0:1.0:0.0:0.0	.	280	P12883	MYH7_HUMAN	K	280	ENSP00000347507:E280K	ENSP00000347507:E280K	E	-	1	0	MYH7	22970007	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.725000	0.68507	1.862000	0.54008	0.305000	0.20034	GAG	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.448	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23900167	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23900167	C	T	23900167	3	4	7	1	0	0	0	0	1	0	0	0	10062	922	32	1	5093	1	MYH7	14	23900167	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	2684104	23900167	83449373	72	630										
TRMT5	145389	genome.wustl.edu	37	chr14	61446334	61446334	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	actttaagcactggaatgttGactgtctttttaaaagctgt	8	6	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:61446334G>A	ENST00000267488.4	+	0	0				RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000354886.2_5'Flank|SLC38A6_ENST00000456840.2_5'Flank|TRMT5_ENST00000261249.6_Silent_p.V94V	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CTGGAATGTTGACTGTCTTTT	0.418																																																	0													207	207	207					14																	61446334		2203	4300	6503	SO:0001631	upstream_gene_variant	57570			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446334G>A	Exception_encountered		C9JWA6|Q86SY5	Silent	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.V94	ENST00000267488.4	37	c.282	CCDS9751.1	14																																																																																			TRMT5	-	NULL		0.418	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT5	HGNC	protein_coding	OTTHUMT00000276957.1	G			61446334	-1	no_errors	ENST00000261249	ensembl	human	known	70_37	silent	SNP	0.005	A	A	61446334	G	A	61446334	1	1	7	0	1	0	0	0	0	0	0	0	16598	1277	45	1		1	TRMT5	14	61446334	5'Flank	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	37546167	61446334	45903206	73	631										
KIAA1409	57578	genome.wustl.edu	37	chr14	94088400	94088400	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cctaaagaggatttagatctGatagatctatcctcagattc	7	8	3	5			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:94088400G>T	ENST00000393151.2	+	30	4821	c.4821G>T	c.(4819-4821)ctG>ctT	p.L1607L	UNC79_ENST00000555664.1_Silent_p.L1607L|UNC79_ENST00000553484.1_Silent_p.L1629L|UNC79_ENST00000256339.4_Silent_p.L1430L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1430L(1)|p.L1629L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTAGATCTGATAGATCTAT	0.473																																																	2	Substitution - coding silent(2)	urinary_tract(2)											70	74	73					14																	94088400		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4821G>T	14.37:g.94088400G>T			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.L1629	ENST00000393151.2	37	c.4887		14																																																																																			UNC79	-	superfamily_ARM-type_fold		0.473	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94088400	1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94088400	G	T	94088400	2	4	7	1	0	0	0	0	0	0	0	1	8250	1277	45	3		3	KIAA1409	14	94088400	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	32642066	94088400	13261140	74	632										
MGA	23269	genome.wustl.edu	37	chr15	41962122	41962122	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	atactgattcagcacttagtGaagttcctcaattgaagcaa	7	8	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:41962122G>A	ENST00000570161.1	+	1	1030	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.E344K|MGA_ENST00000566586.1_Missense_Mutation_p.E344K|MGA_ENST00000389936.4_Missense_Mutation_p.E344K|MGA_ENST00000219905.7_Missense_Mutation_p.E344K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCACTTAGTGAAGTTCCTCA	0.383																																																	0													46	44	45					15																	41962122		1840	4091	5931	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1030G>A	15.37:g.41962122G>A	ENSP00000457035:p.Glu344Lys		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E344K	ENST00000570161.1	37	c.1030	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817256	0.50633	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84223	-1.82;-1.82;-1.81	5.62	5.62	0.85841	.	1.740780	0.02326	N	0.073454	D	0.90013	0.6882	L	0.56769	1.78	0.33653	D	0.608708	P;P	0.47604	0.898;0.836	P;B	0.47470	0.548;0.259	T	0.81951	-0.0698	10	0.72032	D	0.01	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	344;344	F5H7K2;E7ENI0	.;.	K	344	ENSP00000219905:E344K;ENSP00000374586:E344K;ENSP00000442467:E344K	ENSP00000219905:E344K	E	+	1	0	MGA	39749414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.436000	0.66538	2.809000	0.96659	0.467000	0.42956	GAA	MGA	-	NULL		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		41962122	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.997	A	A	41962122	G	A	41962122	3	1	7	1	0	0	0	0	1	0	0	0	9563	1291	45	1	1032	1	MGA	15	41962122	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		41962122	60569270	75	633										
CTDSPL2	51496	genome.wustl.edu	37	chr15	44811464	44811464	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tttcaaaaactataataattGacaactcaccacaagccttt	2	10	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:44811464G>C	ENST00000260327.4	+	11	1773	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D404H|CTD-2329K10.1_ENST00000561324.1_RNA|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D332H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D332H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	404	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TATAATAATTGACAACTCACC	0.348																																																	0													56	63	61					15																	44811464		2197	4294	6491	SO:0001583	missense	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1210G>C	15.37:g.44811464G>C	ENSP00000260327:p.Asp404His		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.D404H	ENST00000260327.4	37	c.1210	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703039	0.88924	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.55930	0.49;0.49	5.98	5.98	0.97165	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.044518	0.85682	D	0.000000	D	0.87799	0.6268	H	0.99940	5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93253	0.6636	10	0.87932	D	0	-2.7967	20.4561	0.99145	0.0:0.0:1.0:0.0	.	332;404	Q05D32-2;Q05D32	.;CTSL2_HUMAN	H	404;332	ENSP00000260327:D404H;ENSP00000380000:D332H	ENSP00000260327:D404H	D	+	1	0	CTDSPL2	42598756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.837000	0.99465	2.843000	0.97960	0.650000	0.86243	GAC	CTDSPL2	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase		0.348	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	G	NM_016396		44811464	1	no_errors	ENST00000260327	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44811464	G	C	44811464	3	2	7	1	0	0	0	0	1	0	0	0	4011	1290	45	1	1248	1	CTDSPL2	15	44811464	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	2849342	44811464	57719928	76	634										
USP8	9101	genome.wustl.edu	37	chr15	50782647	50782647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaagcgctcctactcctcccCagatataacccaggctattc	6	16	0	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:50782647C>A	ENST00000396444.3	+	14	2497	c.2159C>A	c.(2158-2160)cCa>cAa	p.P720Q	USP8_ENST00000433963.1_Missense_Mutation_p.P720Q|USP8_ENST00000425032.3_Missense_Mutation_p.P614Q|USP8_ENST00000307179.4_Missense_Mutation_p.P720Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.P720Q(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTCCTCCCCAGATATAACC	0.478																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											114	114	114					15																	50782647		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2159C>A	15.37:g.50782647C>A	ENSP00000379721:p.Pro720Gln		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.P720Q	ENST00000396444.3	37	c.2159	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.145451	0.94603	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02323	4.34;4.34;4.34;4.34	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	T	0.03463	-1.1034	10	0.52906	T	0.07	-13.2942	19.9733	0.97292	0.0:1.0:0.0:0.0	.	614;720	B4DKA8;P40818	.;UBP8_HUMAN	Q	720;720;720;614	ENSP00000379721:P720Q;ENSP00000405537:P720Q;ENSP00000302239:P720Q;ENSP00000412682:P614Q	ENSP00000302239:P720Q	P	+	2	0	USP8	48569939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.790000	0.95986	0.650000	0.86243	CCA	USP8	-	NULL		0.478	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	C	NM_005154		50782647	1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50782647	C	A	50782647	3	1	7	1	0	0	0	0	1	0	0	0	17120	594	21	4	2209	4	USP8	15	50782647	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	5971183	50782647	51748745	77	635										
FEM1B	10116	genome.wustl.edu	37	chr15	68583140	68583140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttcaccttgatcccagaactCgtgaaggtttcaccttgctg	8	12	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:68583140C>T	ENST00000306917.4	+	2	2059	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	482					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCAGAACTCGTGAAGGTTT	0.438																																																	0													163	147	153					15																	68583140		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1444C>T	15.37:g.68583140C>T	ENSP00000307298:p.Arg482Cys		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R482C	ENST00000306917.4	37	c.1444	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969969	0.53614	.	.	ENSG00000169018	ENST00000306917	T	0.53857	0.6	5.95	5.95	0.96441	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.68116	-0.5494	10	0.62326	D	0.03	-31.1843	19.3601	0.94434	0.0:1.0:0.0:0.0	.	482	Q9UK73	FEM1B_HUMAN	C	482	ENSP00000307298:R482C	ENSP00000307298:R482C	R	+	1	0	FEM1B	66370194	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	3.688000	0.54699	2.826000	0.97356	0.491000	0.48974	CGT	FEM1B	-	superfamily_Ankyrin_rpt-contain_dom		0.438	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68583140	1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68583140	C	T	68583140	3	4	7	1	0	0	0	0	1	0	0	0	5828	884	31	1	1450	1	FEM1B	15	68583140	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	17800493	68583140	33948252	78	636										
HCN4	10021	genome.wustl.edu	37	chr15	73615839	73615839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctcagtccagcgggggcagaGaatccagccagctgttggat	14	11	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:73615839G>A	ENST00000261917.3	-	8	3588	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	865					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGGGCAGAGAATCCAGCCA	0.687																																																	0													50	52	51					15																	73615839		2197	4292	6489	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2595C>T	15.37:g.73615839G>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F865	ENST00000261917.3	37	c.2595	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.687	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73615839	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	0.993	A	A	73615839	G	A	73615839	2	1	7	1	0	0	0	0	0	0	0	1	7019	933	33	1		1	HCN4	15	73615839	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	5032699	73615839	28915553	79	637										
SLC28A1	9154	genome.wustl.edu	37	chr15	85451977	85451977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gagctacacgaaggctggctCcagcttcgtgtttggggagg	16	9	0	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:85451977C>T	ENST00000286749.3	+	8	836	c.746C>T	c.(745-747)tCc>tTc	p.S249F	SLC28A1_ENST00000537703.1_Missense_Mutation_p.S171F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000394573.1_Missense_Mutation_p.S249F			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	249					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	AAGGCTGGCTCCAGCTTCGTG	0.562																																																	0													78	76	77					15																	85451977		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.746C>T	15.37:g.85451977C>T	ENSP00000286749:p.Ser249Phe		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.S249F	ENST00000286749.3	37	c.746	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756379	0.49362	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44	4.59	4.59	0.56863	Na dependent nucleoside transporter (1);	0.121861	0.64402	D	0.000019	T	0.51856	0.1699	H	0.94771	3.58	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.998;0.946;1.0;0.962;0.996	D;D;D;P;D	0.83275	0.983;0.919;0.996;0.908;0.983	T	0.64786	-0.6325	10	0.87932	D	0	0.0337	12.7698	0.57415	0.0:1.0:0.0:0.0	.	249;249;249;171;249	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	F	249;249;249;249;249;171	ENSP00000440546:S249F;ENSP00000443752:S249F;ENSP00000444700:S249F;ENSP00000286749:S249F;ENSP00000378074:S249F;ENSP00000443764:S171F	ENSP00000286749:S249F	S	+	2	0	SLC28A1	83252981	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	5.541000	0.67212	2.381000	0.81170	0.561000	0.74099	TCC	SLC28A1	-	pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	C			85451977	1	no_errors	ENST00000286749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85451977	C	T	85451977	3	4	7	1	0	0	0	0	1	0	0	0	14561	855	30	1	843	1	SLC28A1	15	85451977	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	11836138	85451977	17079415	80	638										
AKAP13	11214	genome.wustl.edu	37	chr15	86189140	86189140	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tctgggagtgattctgacctCtttcactcacccagtgatga	9	11	5	4			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:86189140C>G	ENST00000394518.2	+	10	4424	c.4329C>G	c.(4327-4329)ctC>ctG	p.L1443L	AKAP13_ENST00000361243.2_Silent_p.L1443L|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1443					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTCTGACCTCTTTCACTCAC	0.438																																					Melanoma(94;603 1453 3280 32295 32951)												0													166	145	152					15																	86189140		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4329C>G	15.37:g.86189140C>G			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L1443	ENST00000394518.2	37	c.4329	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86189140	1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	1.000	G	G	86189140	C	G	86189140	2	3	7	1	0	0	0	0	0	0	0	1	449	900	32	1		1	AKAP13	15	86189140	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	737163	86189140	16342252	81	639										
SMG1	23049	genome.wustl.edu	37	chr16	18859259	18859259	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	catccttattgctatcctgaGatgcaggaggacttcctccc	8	13	0	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr16:18859259G>A	ENST00000446231.2	-	37	6132	c.5720C>T	c.(5719-5721)tCt>tTt	p.S1907F	SMG1_ENST00000389467.3_Missense_Mutation_p.S1907F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1907	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1903F(1)|p.S1907F(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCTATCCTGAGATGCAGGAGG	0.398																																																	2	Substitution - Missense(2)	urinary_tract(2)											141	131	134					16																	18859259		1884	4118	6002	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5720C>T	16.37:g.18859259G>A	ENSP00000402515:p.Ser1907Phe		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1907F	ENST00000446231.2	37	c.5720	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164336	0.57476	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01159	5.25;5.25	5.85	4.89	0.63831	Armadillo-type fold (1);	0.085383	0.51477	D	0.000083	T	0.01421	0.0046	L	0.34521	1.04	0.40225	D	0.977788	B;P	0.39551	0.16;0.678	B;B	0.33799	0.034;0.17	T	0.68179	-0.5477	10	0.59425	D	0.04	.	16.3236	0.82964	0.0:0.0:0.8666:0.1334	.	1767;1907	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	F	1907	ENSP00000402515:S1907F;ENSP00000374118:S1907F	ENSP00000374118:S1907F	S	-	2	0	SMG1	18766760	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.639000	0.61361	1.455000	0.47813	-0.282000	0.10007	TCT	SMG1	-	superfamily_ARM-type_fold		0.398	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18859259	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18859259	G	A	18859259	3	1	7	1	0	0	0	0	1	0	0	0	14825	942	33	1	5373	1	SMG1	16	18859259	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		18859259	71495494	82	640										
ZNF668	79759	genome.wustl.edu	37	chr16	31073360	31073360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttcatgggcgcgctggtggcGacggaagctcgaggggtcgg	20	9	1	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr16:31073360G>A	ENST00000538906.1	-	3	1673	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	ZNF668_ENST00000394983.2_Missense_Mutation_p.R297C|ZNF668_ENST00000426488.2_Missense_Mutation_p.R320C|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.R297C|ZNF668_ENST00000535577.1_Missense_Mutation_p.R297C|ZNF668_ENST00000417110.2_Missense_Mutation_p.R183Q|ZNF668_ENST00000539836.3_Missense_Mutation_p.R320C	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCTGGTGGCGACGGAAGCTC	0.682																																					Colon(181;1111 1980 5060 10512 25785)												0													35	34	34					16																	31073360		2197	4296	6493	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.889C>T	16.37:g.31073360G>A	ENSP00000440149:p.Arg297Cys		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R320C	ENST00000538906.1	37	c.958	CCDS10701.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.46|18.46	3.628461|3.628461	0.67015|0.67015	.|.	.|.	ENSG00000167394|ENSG00000232748	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849|ENST00000417110	T;T;T;T;T|.	0.26660|.	1.72;1.72;1.72;1.72;1.72|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71184|.	0.972|.	T|T	0.80804|0.80804	-0.1219|-0.1219	10|7	0.52906|0.87932	T|D	0.07|0	-37.1936|-37.1936	18.4963|18.4963	0.90866|0.90866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297|.	Q96K58|.	ZN668_HUMAN|.	C|Q	320;297;297;297;297|183	ENSP00000442573:R320C;ENSP00000441349:R297C;ENSP00000440149:R297C;ENSP00000378434:R297C;ENSP00000300849:R297C|.	ENSP00000300849:R297C|ENSP00000391989:R183Q	R|R	-|+	1|2	0|0	ZNF668|AC135050.1	30980861|30980861	0.382000|0.382000	0.25148|0.25148	1.000000|1.000000	0.80357|0.80357	0.117000|0.117000	0.20001|0.20001	2.375000|2.375000	0.44283|0.44283	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGC|CGA	ZNF668	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	G	NM_024706		31073360	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31073360	G	A	31073360	3	1	7	1	0	0	0	0	1	0	0	0	18105	1058	37	1	974	1	ZNF668	16	31073360	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	12214101	31073360	59281393	83	641										
MC1R	4157	genome.wustl.edu	37	chr16	89985855	89985855	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gcgctggtggtggccaccatCgccaagaaccggaacctgca	13	14	0	1	rs373344683		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr16:89985855C>T	ENST00000555147.1	+	1	1569	c.189C>T	c.(187-189)atC>atT	p.I63I	MC1R_ENST00000555427.1_Silent_p.I63I|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Silent_p.I63I	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	63					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGGCCACCATCGCCAAGAACC	0.642									Melanoma, Familial Clustering of																																								0								C		0,4352		0,0,2176	61	74	69		189	-6.5	0	16		69	2,8528		0,2,4263	no	coding-synonymous	MC1R	NM_002386.3		0,2,6439	TT,TC,CC		0.0234,0.0,0.0155		63/318	89985855	2,12880	2176	4265	6441	SO:0001819	synonymous_variant	4157	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.189C>T	16.37:g.89985855C>T			Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.I63	ENST00000555147.1	37	c.189	CCDS56011.1	16																																																																																			MC1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1	C	NM_002386		89985855	1	no_errors	ENST00000555147	ensembl	human	known	70_37	silent	SNP	0.009	T	T	89985855	C	T	89985855	2	4	7	1	0	0	0	0	0	0	0	1	9386	874	31	1		1	MC1R	16	89985855	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	58912495	89985855	368898	84	642										
WDR81	124997	genome.wustl.edu	37	chr17	1639342	1639342	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tctccctgcagcacgagttcCgactgggcggtgggctgaac	14	13	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:1639342C>T	ENST00000409644.1	+	9	5335	c.5335C>T	c.(5335-5337)Cga>Tga	p.R1779*	WDR81_ENST00000437219.2_Nonsense_Mutation_p.R576*|WDR81_ENST00000309182.5_Nonsense_Mutation_p.R728*|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Nonsense_Mutation_p.R418*|WDR81_ENST00000545662.1_Nonsense_Mutation_p.R410*|WDR81_ENST00000419248.1_Nonsense_Mutation_p.R552*	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1779					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCACGAGTTCCGACTGGGCGG	0.662																																																	0													50	46	48					17																	1639342		2203	4298	6501	SO:0001587	stop_gained	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5335C>T	17.37:g.1639342C>T	ENSP00000386609:p.Arg1779*		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1779*	ENST00000409644.1	37	c.5335	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.268359	0.99120	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	.	.	.	5.81	5.81	0.92471	.	0.387180	0.23045	U	0.052577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8533	0.70316	0.1437:0.8563:0.0:0.0	.	.	.	.	X	576;728;418;552;1779;530;410	.	ENSP00000312074:R728X	R	+	1	2	WDR81	1586092	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.426000	0.59882	2.745000	0.94114	0.655000	0.94253	CGA	WDR81	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.662	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1639342	1	no_errors	ENST00000409644	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	1639342	C	T	1639342	4	4	7	1	0	0	0	0	0	1	0	0	17361	644	23	2	5431	2	WDR81	17	1639342	Nonsense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		1639342	79555868	85	643										
OR3A1	4994	genome.wustl.edu	37	chr17	3195210	3195210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	caggactgcagctgccacgtGgatataggagatgacaatga	13	8	0	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:3195210G>A	ENST00000323404.1	-	1	666	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	223					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCTGCCACGTGGATATAGGAG	0.527																																					GBM(20;287 516 18743 28660 36594)												0													62	58	60					17																	3195210		2203	4300	6503	SO:0001583	missense	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.667C>T	17.37:g.3195210G>A	ENSP00000313803:p.His223Tyr		Q4VB06|Q6IFM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H223Y	ENST00000323404.1	37	c.667	CCDS11023.1	17	.	.	.	.	.	.	.	.	.	.	G	0.389	-0.924475	0.02377	.	.	ENSG00000180090	ENST00000323404	T	0.00063	8.78	5.01	-0.861	0.10676	GPCR, rhodopsin-like superfamily (1);	0.251939	0.28241	N	0.016066	T	0.00073	0.0002	N	0.13168	0.305	0.09310	N	1	B	0.14805	0.011	B	0.21151	0.033	T	0.42599	-0.9442	10	0.02654	T	1	-5.2028	3.8296	0.08868	0.297:0.0:0.4397:0.2633	.	223	P47881	OR3A1_HUMAN	Y	223	ENSP00000313803:H223Y	ENSP00000313803:H223Y	H	-	1	0	OR3A1	3141960	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.227000	0.17795	-0.146000	0.11274	-0.781000	0.03364	CAC	OR3A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	HGNC	protein_coding	OTTHUMT00000207302.2	G			3195210	-1	no_errors	ENST00000323404	ensembl	human	known	70_37	missense	SNP	0.000	A	A	3195210	G	A	3195210	3	1	7	1	0	0	0	0	1	0	0	0	11061	1348	47	4	284	4	OR3A1	17	3195210	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	1555868	3195210	78000000	86	644										
SHBG	6462	genome.wustl.edu	37	chr17	7534569	7534569	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tgctggaggtggatggggagGaggtgctgcgcctgagacag	21	6	0	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:7534569G>C	ENST00000380450.4	+	4	476	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	SHBG_ENST00000340624.5_Missense_Mutation_p.E91Q|SHBG_ENST00000416273.3_Missense_Mutation_p.E149Q|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.E91Q|SHBG_ENST00000575314.1_Missense_Mutation_p.E91Q|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575903.1_Missense_Mutation_p.E149Q|SHBG_ENST00000441599.2_Missense_Mutation_p.E149Q|SHBG_ENST00000570547.1_Missense_Mutation_p.E91Q	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	149	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GGATGGGGAGGAGGTGCTGCG	0.607																																																	2	Unknown(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)											46	39	42					17																	7534569		2202	4300	6502	SO:0001583	missense	6462				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.445G>C	17.37:g.7534569G>C	ENSP00000369816:p.Glu149Gln		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E149Q	ENST00000380450.4	37	c.445	CCDS11117.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825335	0.90955	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000380450	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.36	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.651937	0.15772	N	0.245362	D	0.84257	0.5432	M	0.63843	1.955	0.37170	D	0.902997	P;P;D;P;P;D	0.76494	0.913;0.913;0.999;0.796;0.929;0.96	P;P;D;B;P;P	0.80764	0.477;0.477;0.994;0.429;0.612;0.685	T	0.81846	-0.0745	10	0.20519	T	0.43	-14.0161	12.5671	0.56316	0.0:0.0:1.0:0.0	.	149;144;149;122;149;91	F5H5Z8;P04278-2;E9PGW1;B0FWH4;P04278;B4DYU0	.;.;.;.;SHBG_HUMAN;.	Q	91;149;149;149	ENSP00000345675:E91Q;ENSP00000393426:E149Q;ENSP00000388867:E149Q;ENSP00000369816:E149Q	ENSP00000345675:E91Q	E	+	1	0	SHBG	7475294	0.874000	0.30092	0.729000	0.30791	0.662000	0.39071	1.339000	0.33885	2.426000	0.82243	0.462000	0.41574	GAG	SHBG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.607	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	HGNC	protein_coding	OTTHUMT00000226957.2	G	NM_001040		7534569	1	no_errors	ENST00000380450	ensembl	human	known	70_37	missense	SNP	0.929	C	C	7534569	G	C	7534569	3	2	7	1	0	0	0	0	1	0	0	0	14299	1175	41	1	459	1	SHBG	17	7534569	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	4339359	7534569	73660641	87	645										
MYO15A	51168	genome.wustl.edu	37	chr17	18045516	18045516	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ttaagcggcgattccgctctCtgcgccacaagatcatcctg	9	14	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:18045516C>G	ENST00000205890.5	+	24	6111	c.5773C>G	c.(5773-5775)Ctg>Gtg	p.L1925V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1925	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTCCGCTCTCTGCGCCACAA	0.592																																																	0													40	43	42					17																	18045516		2172	4280	6452	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5773C>G	17.37:g.18045516C>G	ENSP00000205890:p.Leu1925Val		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L1925V	ENST00000205890.5	37	c.5773	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816303	0.50527	.	.	ENSG00000091536	ENST00000205890	D	0.95724	-3.79	5.69	0.203	0.15195	.	.	.	.	.	D	0.92828	0.7719	L	0.29908	0.895	0.80722	D	1	D	0.62365	0.991	P	0.52343	0.696	D	0.89107	0.3493	9	0.45353	T	0.12	.	10.0413	0.42160	0.0:0.6652:0.0:0.3348	.	1925	Q9UKN7	MYO15_HUMAN	V	1925	ENSP00000205890:L1925V	ENSP00000205890:L1925V	L	+	1	2	MYO15A	17986241	0.073000	0.21202	0.344000	0.25628	0.898000	0.52572	0.475000	0.22164	0.069000	0.16605	0.655000	0.94253	CTG	MYO15A	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.592	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18045516	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.995	G	G	18045516	C	G	18045516	3	3	7	1	0	0	0	0	1	0	0	0	10086	912	32	1	5859	1	MYO15A	17	18045516	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	10510947	18045516	63149694	88	646										
STAT3	6774	genome.wustl.edu	37	chr17	40475064	40475064	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agtgaaagtgacgcctccttCtttgctgctttcactgaatc	8	11	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:40475064C>T	ENST00000264657.5	-	20	2158	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	STAT3_ENST00000389272.3_Missense_Mutation_p.E518K|STAT3_ENST00000585517.1_Missense_Mutation_p.E616K|STAT3_ENST00000404395.3_Missense_Mutation_p.E616K|STAT3_ENST00000588969.1_Missense_Mutation_p.E616K	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	616	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E616K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACGCCTCCTTCTTTGCTGCTT	0.567									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											130	121	124					17																	40475064		2203	4300	6503	SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1846G>A	17.37:g.40475064C>T	ENSP00000264657:p.Glu616Lys	893	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E616K	ENST00000264657.5	37	c.1846	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605599	0.87157	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88431	-2.38;-2.38;-2.38	5.29	5.29	0.74685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	L	0.28400	0.85	0.80722	D	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.11329	0.003;0.006;0.006	T	0.78239	-0.2281	10	0.36615	T	0.2	-26.4272	19.12	0.93358	0.0:1.0:0.0:0.0	.	616;616;616	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	K	616;518;616	ENSP00000264657:E616K;ENSP00000373923:E518K;ENSP00000384943:E616K	ENSP00000264657:E616K	E	-	1	0	STAT3	37728590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.630000	0.83225	2.752000	0.94435	0.655000	0.94253	GAA	STAT3	-	pfam_SH2,pfscan_SH2		0.567	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	C	NM_139276, NM_003150		40475064	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40475064	C	T	40475064	3	4	7	1	0	0	0	0	1	0	0	0	15296	922	32	1	486	1	STAT3	17	40475064	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	22429548	40475064	40720146	89	647										
BRCA1	672	genome.wustl.edu	37	chr17	41215378	41215378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gcatttttctttctttaataGactgggtcacccctaaagag	7	9	3	2	rs80357104		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:41215378G>A	ENST00000357654.3	-	18	5283	c.5165C>T	c.(5164-5166)tCt>tTt	p.S1722F	BRCA1_ENST00000346315.3_Missense_Mutation_p.S1483F|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1457F|BRCA1_ENST00000468300.1_Missense_Mutation_p.S618F|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1675F|BRCA1_ENST00000351666.3_Missense_Mutation_p.S539F|BRCA1_ENST00000491747.2_Missense_Mutation_p.S618F|BRCA1_ENST00000471181.2_Missense_Mutation_p.S1743F|BRCA1_ENST00000591534.1_Missense_Mutation_p.S213F|BRCA1_ENST00000352993.3_Missense_Mutation_p.S580F|BRCA1_ENST00000309486.4_Missense_Mutation_p.S1426F|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Missense_Mutation_p.S32F	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1722	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTTAATAGACTGGGTCAC	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													132	129	130					17																	41215378		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5165C>T	17.37:g.41215378G>A	ENSP00000350283:p.Ser1722Phe		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.S1743F	ENST00000357654.3	37	c.5228	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197448	0.79015	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;T;D;T;D;D;D;D;D;D;D;D	0.90676	-2.71;-0.02;-2.71;0.39;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.46	5.46	0.80206	BRCT (4);	0.000000	0.49916	D	0.000137	D	0.95560	0.8557	M	0.85197	2.74	0.43793	D	0.996332	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D;D;P;D	0.97110	0.999;1.0;0.989;1.0;1.0;1.0;1.0;0.814;1.0	D	0.95818	0.8847	10	0.87932	D	0	.	15.1639	0.72807	0.0:0.0:1.0:0.0	.	618;571;32;617;619;618;1744;1722;1722	E7EUM2;B4DES0;C6YB45;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;.;BRCA1_HUMAN;.	F	1722;1743;1457;580;1483;539;1426;618;571;1744;1675;617;618;493;572	ENSP00000350283:S1722F;ENSP00000326002:S1457F;ENSP00000312236:S580F;ENSP00000246907:S1483F;ENSP00000338007:S539F;ENSP00000310938:S1426F;ENSP00000417148:S618F;ENSP00000377294:S571F;ENSP00000418775:S1675F;ENSP00000420412:S618F;ENSP00000419481:S493F;ENSP00000418819:S572F	ENSP00000310938:S1426F	S	-	2	0	BRCA1	38468904	1.000000	0.71417	0.985000	0.45067	0.865000	0.49528	2.861000	0.48380	2.724000	0.93272	0.491000	0.48974	TCT	BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	G	NM_007294		41215378	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41215378	G	A	41215378	3	1	7	1	0	0	0	0	1	0	0	0	1501	942	33	1	450	1	BRCA1	17	41215378	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	740314	41215378	39979832	90	648										
C17orf71	55181	genome.wustl.edu	37	chr17	57287571	57287571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	atctgcgttgtgggaatcttCggcaagacggctctacgcct	12	11	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:57287571C>A	ENST00000543872.2	+	2	423	c.159C>A	c.(157-159)ttC>ttA	p.F53L	SMG8_ENST00000578922.1_Missense_Mutation_p.F53L|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.F53L|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	53					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGGAATCTTCGGCAAGACGG	0.607																																																	0													53	48	50					17																	57287571		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.159C>A	17.37:g.57287571C>A	ENSP00000438748:p.Phe53Leu		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.F53L	ENST00000543872.2	37	c.159	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643453	0.67244	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.38722	1.12;1.12	5.47	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	L	0.29908	0.895	0.48571	D	0.99967	D	0.56521	0.976	D	0.75020	0.985	T	0.43180	-0.9407	10	0.87932	D	0	-13.9643	9.6777	0.40050	0.0:0.7639:0.0:0.2361	.	53	Q8ND04	SMG8_HUMAN	L	53	ENSP00000300917:F53L;ENSP00000438748:F53L	ENSP00000300917:F53L	F	+	3	2	SMG8	54642353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.971000	0.29396	0.318000	0.23185	-0.345000	0.07892	TTC	SMG8	-	pfam_Smg8/Smg9		0.607	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	C	NM_018149		57287571	1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57287571	C	A	57287571	3	1	7	1	0	0	0	0	1	0	0	0	1882	883	31	3	161	3	C17orf71	17	57287571	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	16072193	57287571	23907639	91	649										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892842	62892842	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaatattcattctgcaaagtCtgtttctgactctgaggtgt	9	7	5	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:62892842C>G	ENST00000584306.1	-	3	1064	c.534G>C	c.(532-534)caG>caC	p.Q178H	RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q178H|RP11-927P21.1_ENST00000577938.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	178						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTGCAAAGTCTGTTTCTGAC	0.493																																																	0													84	143	125					17																	62892842		1603	3639	5242	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.534G>C	17.37:g.62892842C>G	ENSP00000464535:p.Gln178His		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q178H	ENST00000584306.1	37	c.534	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	6.090	0.384925	0.11524	.	.	ENSG00000176809	ENST00000319651	T	0.61392	0.11	1.39	-1.92	0.07618	.	.	.	.	.	T	0.38825	0.1055	L	0.43152	1.355	0.09310	N	1	P	0.36944	0.574	B	0.31751	0.135	T	0.28681	-1.0036	9	0.59425	D	0.04	.	1.5055	0.02486	0.3066:0.2268:0.0:0.4666	.	178	O60309	L37A3_HUMAN	H	178	ENSP00000325713:Q178H	ENSP00000325713:Q178H	Q	-	3	2	LRRC37A3	60323304	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.355000	0.02612	-0.458000	0.07023	0.162000	0.16502	CAG	LRRC37A3	-	NULL		0.493	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62892842	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	G	G	62892842	C	G	62892842	3	3	7	1	0	0	0	0	1	0	0	0	9016	912	32	1	4418	1	LRRC37A3	17	62892842	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	5605271	62892842	18302368	92	650										
NAT9	26151	genome.wustl.edu	37	chr17	72767864	72767864	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tgcccacaaggcccagccatCagcagggctctgccgaccca	10	18	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:72767864C>T	ENST00000357814.3	-	7	696	c.623G>A	c.(622-624)tGa>tAa	p.*208*	NAT9_ENST00000580301.1_Silent_p.*207*|NAT9_ENST00000578822.1_Silent_p.*213*|NAT9_ENST00000582870.1_Silent_p.*212*|NAT9_ENST00000581136.1_Silent_p.*203*|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000580632.1_Silent_p.*208*	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	0						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GCCCAGCCATCAGCAGGGCTC	0.602																																																	0													40	38	39					17																	72767864		2203	4300	6503	SO:0001819	synonymous_variant	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.623G>A	17.37:g.72767864C>T			B2R7F0|Q9BTD0|Q9Y3T3	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.*208	ENST00000357814.3	37	c.623	CCDS11706.1	17																																																																																			NAT9	-	NULL		0.602	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	C	NM_015654		72767864	-1	no_errors	ENST00000357814	ensembl	human	known	70_37	silent	SNP	0.826	T	T	72767864	C	T	72767864	2	4	7	1	0	0	0	0	0	0	0	1	10205	837	29	1		1	NAT9	17	72767864	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	9875022	72767864	8427346	93	651										
RECQL5	9400	genome.wustl.edu	37	chr17	73624482	73624482	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctacgacggagggcttggctGaggggcgtggcctcttctga	17	10	2	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:73624482G>A	ENST00000317905.5	-	18	2780	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.S847L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	874					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCTTGGCTGAGGGGCGTGG	0.647								Other identified genes with known or suspected DNA repair function																																									0													55	64	61					17																	73624482		2051	4179	6230	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2621C>T	17.37:g.73624482G>A	ENSP00000317636:p.Ser874Leu		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S874L	ENST00000317905.5	37	c.2621	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826535	0.32329	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.56611	0.45	5.57	2.29	0.28610	.	0.716558	0.12092	N	0.500344	T	0.39226	0.1070	L	0.57536	1.79	0.09310	N	0.999997	P;P;B	0.44734	0.842;0.842;0.047	B;B;B	0.35114	0.138;0.196;0.032	T	0.19778	-1.0295	10	0.24483	T	0.36	-0.6848	4.6312	0.12502	0.0734:0.132:0.5228:0.2719	.	874;847;70	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	L	469;874;874	ENSP00000317636:S874L	ENSP00000317636:S874L	S	-	2	0	RECQL5	71136077	0.008000	0.16893	0.958000	0.39756	0.507000	0.33981	0.840000	0.27600	0.696000	0.31696	0.563000	0.77884	TCA	RECQL5	-	NULL		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	G	NM_004259		73624482	-1	no_errors	ENST00000317905	ensembl	human	known	70_37	missense	SNP	0.027	A	A	73624482	G	A	73624482	3	1	7	1	0	0	0	0	1	0	0	0	13233	1294	45	1	366	1	RECQL5	17	73624482	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	856618	73624482	7570728	94	652										
EMR1	2015	genome.wustl.edu	37	chr19	6901986	6901986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tgcaacccaggatttgaatcCagcagtggccacttgagttt	10	10	0	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:6901986C>T	ENST00000312053.4	+	6	652	c.615C>T	c.(613-615)tcC>tcT	p.S205S	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Silent_p.S205S|EMR1_ENST00000381404.4_Silent_p.S153S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	205	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S205S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GATTTGAATCCAGCAGTGGCC	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											194	197	196					19																	6901986		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.615C>T	19.37:g.6901986C>T			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.S205	ENST00000312053.4	37	c.615	CCDS12175.1	19																																																																																			EMR1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	C			6901986	1	no_errors	ENST00000312053	ensembl	human	known	70_37	silent	SNP	0.000	T	T	6901986	C	T	6901986	2	4	7	1	0	0	0	0	0	0	0	1	5116	581	21	4		4	EMR1	19	6901986	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		6901986	52226997	95	653										
DPY19L3	147991	genome.wustl.edu	37	chr19	32954774	32954774	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cgcctgtgtctgttcttgcaGaatgaagtacctctggacgt	11	10	3	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:32954774G>C	ENST00000342179.5	+	14	1660		c.e14-1		DPY19L3_ENST00000392250.2_Splice_Site|DPY19L3_ENST00000586987.1_Splice_Site|DPY19L3_ENST00000590651.1_Splice_Site	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTTCTTGCAGAATGAAGTAC	0.433																																																	0													218	202	208					19																	32954774		2203	4300	6503	SO:0001630	splice_region_variant	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1446-1G>C	19.37:g.32954774G>C			Q68DC7|Q6ZTB7|Q6ZTS2	Splice_Site	SNP	-	e13-1	ENST00000342179.5	37	c.1446-1	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463101	0.63513	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1687	0.89737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPY19L3	37646614	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	.	DPY19L3	-	-		0.433	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	G	NM_207325	Intron	32954774	1	no_errors	ENST00000342179	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	32954774	G	C	32954774	5	2	7	1	0	0	0	0	0	0	1	0	4752	956	33	1	1495	1	DPY19L3	19	32954774	Splice_Site	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	26052788	32954774	26174209	96	654										
RHPN2	85415	genome.wustl.edu	37	chr19	33502623	33502623	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	atctgccgtgtgggcgggaaGaatcgactctcgacaaagcc	13	11	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:33502623G>A	ENST00000254260.3	-	6	590	c.555C>T	c.(553-555)ttC>ttT	p.F185F	RHPN2_ENST00000400226.4_Silent_p.F34F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	185	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGCGGGAAGAATCGACTCT	0.577																																																	0													72	58	63					19																	33502623		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.555C>T	19.37:g.33502623G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.F185	ENST00000254260.3	37	c.555	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.577	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	G	NM_033103		33502623	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33502623	G	A	33502623	2	1	7	1	0	0	0	0	0	0	0	1	13381	933	33	1		1	RHPN2	19	33502623	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	547849	33502623	25626360	97	655										
ARHGAP33	115703	genome.wustl.edu	37	chr19	36271142	36271142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cacggccggcgactgctcctCagtgaggaggcgtcactcaa	13	14	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:36271142C>T	ENST00000007510.4	+	7	675	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ARHGAP33_ENST00000314737.5_Silent_p.L177L|ARHGAP33_ENST00000378944.5_Silent_p.L41L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	177					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GACTGCTCCTCAGTGAGGAGG	0.577																																																	0													71	65	67					19																	36271142		2203	4300	6503	SO:0001819	synonymous_variant	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.531C>T	19.37:g.36271142C>T			O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L177	ENST00000007510.4	37	c.531		19																																																																																			ARHGAP33	-	NULL		0.577	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		C	NM_052948		36271142	1	no_errors	ENST00000007510	ensembl	human	known	70_37	silent	SNP	0.986	T	T	36271142	C	T	36271142	2	4	7	1	0	0	0	0	0	0	0	1	882	813	29	1		1	ARHGAP33	19	36271142	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	2768519	36271142	22857841	98	656										
ZNF573	126231	genome.wustl.edu	37	chr19	38229932	38229932	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agtatgagttttccgatgttGaataaggtttgagccagtac	11	5	0	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:38229932G>C	ENST00000590414.2	-	4	1480	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	ZNF573_ENST00000339503.4_Missense_Mutation_p.Q429E|ZNF573_ENST00000357309.3_Missense_Mutation_p.Q399E|ZNF573_ENST00000392138.1_Missense_Mutation_p.Q400E|ZNF573_ENST00000536220.1_Missense_Mutation_p.Q399E			Q86YE8	ZN573_HUMAN	zinc finger protein 573	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCCGATGTTGAATAAGGTTT	0.368																																																	0													85	83	84					19																	38229932		2203	4300	6503	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1459C>G	19.37:g.38229932G>C	ENSP00000465020:p.Gln487Glu		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q487E	ENST00000590414.2	37	c.1459	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	-	0	-2.608216	0.00121	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	2.19	0.949	0.19566	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	L	0.28344	0.845	0.09310	N	1	B;B;B;B	0.33198	0.349;0.349;0.401;0.349	B;B;B;B	0.38562	0.138;0.138;0.276;0.181	T	0.26258	-1.0108	9	0.02654	T	1	.	8.0038	0.30313	0.0:0.0:0.6123:0.3877	.	400;429;467;399	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	E	400;399;399;429;399	ENSP00000375983:Q400E;ENSP00000440464:Q399E;ENSP00000349861:Q399E;ENSP00000340171:Q429E	ENSP00000340171:Q429E	Q	-	1	0	ZNF573	42921772	0.000000	0.05858	0.419000	0.26584	0.571000	0.35966	-0.313000	0.08103	1.045000	0.40225	0.585000	0.79938	CAA	ZNF573	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	G	NM_152360		38229932	-1	no_errors	ENST00000590414	ensembl	human	known	70_37	missense	SNP	0.001	C	C	38229932	G	C	38229932	3	2	7	1	0	0	0	0	1	0	0	0	18035	1299	45	1	542	1	ZNF573	19	38229932	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	1958790	38229932	20899051	99	657										
AXL	558	genome.wustl.edu	37	chr19	41759596	41759596	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agattcatacaccgggacctGgcggccaggaactgcatgtg	13	11	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:41759596G>C	ENST00000301178.4	+	17	2209	c.2019G>C	c.(2017-2019)ctG>ctC	p.L673L	AXL_ENST00000593513.1_Silent_p.L405L|AXL_ENST00000359092.3_Silent_p.L664L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	673	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCGGGACCTGGCGGCCAGGA	0.582																																																	0													87	73	78					19																	41759596		2203	4300	6503	SO:0001819	synonymous_variant	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2019G>C	19.37:g.41759596G>C			Q8N5L2|Q9UD27	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L673	ENST00000301178.4	37	c.2019	CCDS12575.1	19																																																																																			AXL	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.582	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	G			41759596	1	no_errors	ENST00000301178	ensembl	human	known	70_37	silent	SNP	1.000	C	C	41759596	G	C	41759596	2	2	7	1	0	0	0	0	0	0	0	1	1239	1335	47	4		4	AXL	19	41759596	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	3529664	41759596	17369387	100	658										
LENG1	79165	genome.wustl.edu	37	chr19	54659533	54659533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gaattgggagttgtaccgccGccgccggtcatccgtctcgt	13	13	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:54659533G>A	ENST00000222224.3	-	4	907	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	241										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTGTACCGCCGCCGCCGGTCA	0.682																																																	0													17	20	19					19																	54659533		2202	4295	6497	SO:0001583	missense	79165			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.721C>T	19.37:g.54659533G>A	ENSP00000222224:p.Arg241Trp		Q9HCU7	Missense_Mutation	SNP	NULL	p.R241W	ENST00000222224.3	37	c.721	CCDS12881.1	19	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809561	0.50421	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	4.54	1.01	0.19927	.	0.057177	0.64402	D	0.000003	T	0.65302	0.2678	M	0.86178	2.8	0.43080	D	0.994731	D	0.76494	0.999	D	0.67231	0.95	T	0.68062	-0.5508	10	0.72032	D	0.01	-15.8858	8.9759	0.35935	0.0:0.118:0.5573:0.3247	.	241	Q96BZ8	LENG1_HUMAN	W	241	ENSP00000222224:R241W	ENSP00000222224:R241W	R	-	1	2	LENG1	59351345	0.594000	0.26849	0.565000	0.28409	0.602000	0.36980	0.866000	0.27954	0.559000	0.29153	0.655000	0.94253	CGG	LENG1	-	NULL		0.682	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG1	HGNC	protein_coding	OTTHUMT00000142159.1	G	NM_024316		54659533	-1	no_errors	ENST00000222224	ensembl	human	known	70_37	missense	SNP	0.393	A	A	54659533	G	A	54659533	3	1	7	1	0	0	0	0	1	0	0	0	8743	1086	38	2	77	2	LENG1	19	54659533	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	12899937	54659533	4469450	101	659										
ZNF671	79891	genome.wustl.edu	37	chr19	58233778	58233778	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	tctcctcgctctagtttcatGactgcacgtgatctggaaaa	8	11	4	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:58233778G>A	ENST00000317398.6	-	3	389	c.294C>T	c.(292-294)gtC>gtT	p.V98V	ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.S56L|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	98	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTAGTTTCATGACTGCACGTG	0.522																																																	0													176	173	174					19																	58233778		2203	4300	6503	SO:0001819	synonymous_variant	79891				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.294C>T	19.37:g.58233778G>A			A6NF07|Q9H5E9	Missense_Mutation	SNP	NULL	p.S56L	ENST00000317398.6	37	c.167	CCDS12961.1	19																																																																																			ZNF671	-	NULL		0.522	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	G	NM_024833		58233778	-1	no_errors	ENST00000601584	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58233778	G	A	58233778	2	1	7	1	0	0	0	0	0	0	0	1	18108	1277	45	1		1	ZNF671	19	58233778	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	3574245	58233778	895205	102	660										
SEL1L2	80343	genome.wustl.edu	37	chr20	13899729	13899729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	atgcccatcttaaatagctgGtctccttcatctgtaaaatt	5	10	4	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:13899729G>A	ENST00000284951.5	-	4	398	c.324C>T	c.(322-324)gaC>gaT	p.D108D	SEL1L2_ENST00000378072.5_Silent_p.D108D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	108						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TAAATAGCTGGTCTCCTTCAT	0.313																																																	0													178	157	164					20																	13899729		1814	4074	5888	SO:0001819	synonymous_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.324C>T	20.37:g.13899729G>A			B4DXX5	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.D108	ENST00000284951.5	37	c.324		20																																																																																			SEL1L2	-	smart_Sel1-like		0.313	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	G	NM_025229		13899729	-1	no_errors	ENST00000284951	ensembl	human	known	70_37	silent	SNP	0.026	A	A	13899729	G	A	13899729	2	1	7	1	0	0	0	0	0	0	0	1	14041	1252	44	4		4	SEL1L2	20	13899729	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08		13899729	49125791	103	661										
KIF16B	55614	genome.wustl.edu	37	chr20	16485148	16485148	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ggctctatttgcatagcgaaGagtacttagggtttctccat	10	8	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:16485148G>C	ENST00000354981.2	-	10	1202	c.1045C>G	c.(1045-1047)Ctt>Gtt	p.L349V	KIF16B_ENST00000408042.1_Missense_Mutation_p.L349V|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.L349V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	349	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCATAGCGAAGAGTACTTAGG	0.398																																																	0													227	203	211					20																	16485148		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1045C>G	20.37:g.16485148G>C	ENSP00000347076:p.Leu349Val		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L349V	ENST00000354981.2	37	c.1045	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548312	0.86127	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.87	5.87	0.94306	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	D	0.95894	0.8909	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	349;349;349;349	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	349	ENSP00000347076:L349V;ENSP00000347995:L349V;ENSP00000384164:L349V	ENSP00000347076:L349V	L	-	1	0	KIF16B	16433148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.919000	0.87513	2.941000	0.99782	0.655000	0.94253	CTT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.398	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	G	NM_017683		16485148	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16485148	G	C	16485148	3	2	7	1	0	0	0	0	1	0	0	0	8298	942	33	1	2976	1	KIF16B	20	16485148	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	2585419	16485148	46540372	104	662										
ZFP64	55734	genome.wustl.edu	37	chr20	50776785	50776785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cttgttgaggctgctgctgtCggcagcggcgtagtcacacg	15	11	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:50776785C>T	ENST00000216923.4	-	5	989	c.640G>A	c.(640-642)Gac>Aac	p.D214N	ZFP64_ENST00000346617.4_Missense_Mutation_p.D160N|ZFP64_ENST00000371515.4_Missense_Mutation_p.D212N|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Missense_Mutation_p.D214N|ZFP64_ENST00000371518.2_Missense_Mutation_p.D214N	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGCTGTCGGCAGCGGCG	0.592																																																	0													136	131	133					20																	50776785		2203	4300	6503	SO:0001583	missense	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.640G>A	20.37:g.50776785C>T	ENSP00000216923:p.Asp214Asn		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D214N	ENST00000216923.4	37	c.640	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.437114	0.96168	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.93	5.93	0.95920	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.64402	D	0.000011	T	0.14917	0.0360	N	0.11845	0.185	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	D;P;P;P	0.67231	0.95;0.719;0.719;0.632	T	0.33343	-0.9872	10	0.25751	T	0.34	-25.9262	20.3539	0.98825	0.0:1.0:0.0:0.0	.	160;212;214;214	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	N	214;214;214;160;212;56;367	ENSP00000360573:D214N;ENSP00000355179:D214N;ENSP00000216923:D214N;ENSP00000344615:D160N;ENSP00000360570:D212N	ENSP00000216923:D214N	D	-	1	0	ZFP64	50210192	1.000000	0.71417	0.972000	0.41901	0.833000	0.47200	6.003000	0.70701	2.826000	0.97356	0.655000	0.94253	GAC	ZFP64	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	C	NM_018197		50776785	-1	no_errors	ENST00000216923	ensembl	human	known	70_37	missense	SNP	0.998	T	T	50776785	C	T	50776785	3	4	7	1	0	0	0	0	1	0	0	0	17682	884	31	1	2604	1	ZFP64	20	50776785	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	34291637	50776785	12248735	105	663										
CASS4	57091	genome.wustl.edu	37	chr20	55027331	55027331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctcaggctgggaaggagctgGagaaagccaaggaggtgtca	17	7	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:55027331G>C	ENST00000360314.3	+	6	1324	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.E367Q	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	367					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAGGAGCTGGAGAAAGCCAA	0.507																																																	0													60	50	54					20																	55027331		2203	4300	6503	SO:0001583	missense	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1099G>C	20.37:g.55027331G>C	ENSP00000353462:p.Glu367Gln		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E367Q	ENST00000360314.3	37	c.1099	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	7.406	0.633723	0.14322	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.14391	2.51;2.51	5.37	1.17	0.20885	.	1.301920	0.05053	N	0.478442	T	0.10766	0.0263	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17268	0.002;0.021;0.001	B;B;B	0.17979	0.004;0.02;0.004	T	0.39542	-0.9609	10	0.18276	T	0.48	-0.4456	5.8826	0.18864	0.2763:0.1269:0.5968:0.0	.	313;367;367	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Q	367	ENSP00000353462:E367Q;ENSP00000360387:E367Q	ENSP00000353462:E367Q	E	+	1	0	CASS4	54460738	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.774000	0.26675	0.057000	0.16193	-0.252000	0.11476	GAG	CASS4	-	NULL		0.507	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	G	NM_020356		55027331	1	no_errors	ENST00000360314	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55027331	G	C	55027331	3	2	7	1	0	0	0	0	1	0	0	0	2688	1175	41	1	1117	1	CASS4	20	55027331	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	4250546	55027331	7998189	106	664										
TIAM1	7074	genome.wustl.edu	37	chr21	32638880	32638880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agccaaatatgtagcgtcatCcccgtaaagcctgctctcct	7	14	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr21:32638880C>A	ENST00000286827.3	-	5	880	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.D137Y	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	137					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTAGCGTCATCCCCGTAAAGC	0.547																																																	0													100	86	91					21																	32638880		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.409G>T	21.37:g.32638880C>A	ENSP00000286827:p.Asp137Tyr		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.D137Y	ENST00000286827.3	37	c.409	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825632	0.50739	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.48836	0.84;0.8	5.37	4.29	0.51040	.	0.440310	0.25117	N	0.033009	T	0.32971	0.0847	N	0.08118	0	0.40165	D	0.977108	P;P;P	0.48016	0.904;0.845;0.845	B;B;B	0.44044	0.439;0.254;0.254	T	0.44892	-0.9298	10	0.87932	D	0	.	14.9461	0.71032	0.0:0.9191:0.0:0.0809	.	137;137;137	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Y	137	ENSP00000286827:D137Y;ENSP00000441570:D137Y	ENSP00000286827:D137Y	D	-	1	0	TIAM1	31560751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.201000	0.58439	2.504000	0.84457	0.591000	0.81541	GAT	TIAM1	-	NULL		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	C	NM_003253		32638880	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32638880	C	A	32638880	3	1	7	1	0	0	0	0	1	0	0	0	15920	855	30	3	4466	3	TIAM1	21	32638880	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		32638880	15491015	107	665										
BRWD1	54014	genome.wustl.edu	37	chr21	40568805	40568805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agaaaatgtcctatcagtctCactccctggaatatgacttt	6	10	2	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr21:40568805C>T	ENST00000333229.2	-	41	6517	c.6190G>A	c.(6190-6192)Gag>Aag	p.E2064K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E2064K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E2064K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2064					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTATCAGTCTCACTCCCTGGA	0.393																																					Melanoma(170;988 1986 4794 16843 39731)												0													132	134	133					21																	40568805		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6190G>A	21.37:g.40568805C>T	ENSP00000330753:p.Glu2064Lys		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E2064K	ENST00000333229.2	37	c.6190	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981854	0.18812	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56941	0.43;0.44;0.52	5.53	4.62	0.57501	.	0.487188	0.21529	N	0.073064	T	0.48624	0.1510	M	0.71581	2.175	0.19300	N	0.99998	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.41270	-0.9518	10	0.33141	T	0.24	-1.267	7.9267	0.29878	0.0:0.6181:0.2954:0.0865	.	2064;2064	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	2064	ENSP00000330753:E2064K;ENSP00000344333:E2064K;ENSP00000370178:E2064K	ENSP00000330753:E2064K	E	-	1	0	BRWD1	39490675	0.001000	0.12720	0.021000	0.16686	0.911000	0.54048	1.313000	0.33585	1.245000	0.43885	0.655000	0.94253	GAG	BRWD1	-	NULL		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40568805	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.009	T	T	40568805	C	T	40568805	3	4	7	1	0	0	0	0	1	0	0	0	1528	835	29	1	1019	1	BRWD1	21	40568805	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	7929925	40568805	7561090	108	666										
MX1	4599	genome.wustl.edu	37	chr21	42812922	42812922	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aggctctcagcatggcccagGaggtggaccccgagggagac	16	12	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr21:42812922G>C	ENST00000398600.2	+	11	1725	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	MX1_ENST00000398598.3_Missense_Mutation_p.E234Q|MX1_ENST00000455164.2_Missense_Mutation_p.E234Q|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000288383.6_Missense_Mutation_p.E211Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	234	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGGCCCAGGAGGTGGACCC	0.612																																																	0													76	74	74					21																	42812922		2203	4300	6503	SO:0001583	missense	4599				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.700G>C	21.37:g.42812922G>C	ENSP00000381601:p.Glu234Gln		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.E234Q	ENST00000398600.2	37	c.700	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946201	0.53079	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	4.65	3.76	0.43208	Dynamin, GTPase domain (2);	0.157184	0.53938	D	0.000041	D	0.96144	0.8743	L	0.55834	1.745	0.54753	D	0.99998	P	0.46656	0.882	P	0.53102	0.718	D	0.95892	0.8908	10	0.66056	D	0.02	-43.3841	12.6406	0.56707	0.0837:0.0:0.9162:0.0	.	234	P20591	MX1_HUMAN	Q	234;234;234;211	ENSP00000381601:E234Q;ENSP00000381599:E234Q;ENSP00000410523:E234Q;ENSP00000288383:E211Q	ENSP00000288383:E211Q	E	+	1	0	MX1	41734792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	1.252000	0.44001	0.650000	0.86243	GAG	MX1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin		0.612	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	G			42812922	1	no_errors	ENST00000398598	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42812922	G	C	42812922	3	2	7	1	0	0	0	0	1	0	0	0	10020	1175	41	1	718	1	MX1	21	42812922	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	2244117	42812922	5316973	109	667										
C22orf29	79680	genome.wustl.edu	37	chr22	19839483	19839483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	caaaggtgcctgggtctgagCctggtacccagcagaagtcc	13	12	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:19839483C>T	ENST00000405640.1	-	2	970	c.302G>A	c.(301-303)gGc>gAc	p.G101D	C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G101D|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G101D|GNB1L_ENST00000403325.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	101					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGGGTCTGAGCCTGGTACCCA	0.607																																																	0													52	60	58					22																	19839483		2203	4300	6503	SO:0001583	missense	79680			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.302G>A	22.37:g.19839483C>T	ENSP00000384924:p.Gly101Asp		A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	NULL	p.G101D	ENST00000405640.1	37	c.302	CCDS13769.1	22	.	.	.	.	.	.	.	.	.	.	C	7.275	0.607841	0.14002	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.29397	1.57;1.57;1.57	3.68	0.162	0.14981	.	.	.	.	.	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	P	0.40731	0.728	B	0.30179	0.112	T	0.17228	-1.0376	9	0.21540	T	0.41	-7.3955	4.5589	0.12151	0.3836:0.5076:0.0:0.1088	.	101	Q7L3V2	CV029_HUMAN	D	101	ENSP00000386111:G101D;ENSP00000330596:G101D;ENSP00000384924:G101D	ENSP00000330596:G101D	G	-	2	0	C22orf29	18219483	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	-0.232000	0.09055	0.124000	0.18369	0.655000	0.94253	GGC	C22orf29	-	NULL		0.607	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C22orf29	HGNC	protein_coding	OTTHUMT00000317290.2	C	NM_024627		19839483	-1	no_errors	ENST00000328554	ensembl	human	known	70_37	missense	SNP	0.004	T	T	19839483	C	T	19839483	3	4	7	1	0	0	0	0	1	0	0	0	2146	739	26	4	796	4	C22orf29	22	19839483	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		19839483	31465083	110	668										
PI4KA	5297	genome.wustl.edu	37	chr22	21119489	21119489	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gggggacttagtggctatttCacagaccccctcgtaccatt	10	12	1	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:21119489C>G	ENST00000572273.1	-	21	2529	c.2299G>C	c.(2299-2301)Gaa>Caa	p.E767Q	PI4KA_ENST00000255882.6_Missense_Mutation_p.E825Q|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	767					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTGGCTATTTCACAGACCCCC	0.517																																					GBM(136;1332 1831 3115 23601 50806)												0													118	122	121					22																	21119489		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2299G>C	22.37:g.21119489C>G	ENSP00000458238:p.Glu767Gln		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E825Q	ENST00000572273.1	37	c.2473		22	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584642	0.86748	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.40543	1.245	0.80722	D	1	P	0.34462	0.454	B	0.36885	0.235	T	0.43637	-0.9379	9	0.18276	T	0.48	-26.3198	19.2017	0.93713	0.0:1.0:0.0:0.0	.	767	P42356	PI4KA_HUMAN	Q	767	.	ENSP00000255882:E767Q	E	-	1	0	PI4KA	19449489	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.539000	0.82063	2.770000	0.95276	0.650000	0.86243	GAA	PI4KA	-	superfamily_ARM-type_fold		0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21119489	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21119489	C	G	21119489	3	3	7	1	0	0	0	0	1	0	0	0	11897	835	29	1	3975	1	PI4KA	22	21119489	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	1280006	21119489	30185077	111	669										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	7	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	1007675	22127164	29177402	112	670										
TMPRSS6	164656	genome.wustl.edu	37	chr22	37485664	37485664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	cccggccacgtcatacatggCcagtcggtcccggcactctg	11	17	2	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:37485664C>T	ENST00000346753.3	-	7	933	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A264T|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A273T|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A264T|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A264T	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	273	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCATACATGGCCAGTCGGTCC	0.652																																																	0													24	24	24					22																	37485664		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.817G>A	22.37:g.37485664C>T	ENSP00000334962:p.Ala273Thr		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.A264T	ENST00000346753.3	37	c.790	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530390	0.27387	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	4.37	4.37	0.52481	CUB (1);	0.308236	0.31721	N	0.007172	T	0.40473	0.1118	L	0.32530	0.975	0.44816	D	0.997821	P;B;B	0.42518	0.782;0.264;0.172	B;B;B	0.38712	0.28;0.05;0.023	T	0.27571	-1.0070	10	0.10111	T	0.7	.	17.2674	0.87090	0.0:1.0:0.0:0.0	.	273;264;273	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	T	264;273;264;264;273	ENSP00000371211:A264T;ENSP00000334962:A273T;ENSP00000385453:A264T;ENSP00000384964:A264T;ENSP00000397691:A273T	ENSP00000334962:A273T	A	-	1	0	TMPRSS6	35815610	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.434000	0.44802	2.126000	0.65437	0.462000	0.41574	GCC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB		0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	C	NM_153609		37485664	-1	no_errors	ENST00000381792	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37485664	C	T	37485664	3	4	7	1	0	0	0	0	1	0	0	0	16281	739	26	4	1666	4	TMPRSS6	22	37485664	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	15358500	37485664	13818902	113	671										
NDUFA6	4700	genome.wustl.edu	37	chr22	42483075	42483075	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtcagttaccttaatgaccaGaagatcaaccaccctggggt	9	11	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:42483075G>A	ENST00000498737.2	-	2	454	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	RP1-257I20.14_ENST00000602718.1_RNA|NDUFA6_ENST00000470753.1_Silent_p.L25L|NDUFA6_ENST00000602404.1_Silent_p.L82L	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	108					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TTAATGACCAGAAGATCAACC	0.433																																																	0													171	168	169					22																	42483075		2203	4300	6503	SO:0001819	synonymous_variant	4700			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.322C>T	22.37:g.42483075G>A			B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Silent	SNP	pfam_Complex1_LYR	p.L108	ENST00000498737.2	37	c.322	CCDS33656.1	22																																																																																			NDUFA6	-	pfam_Complex1_LYR		0.433	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	NDUFA6	HGNC	protein_coding	OTTHUMT00000322089.4	G	NM_002490		42483075	-1	no_errors	ENST00000498737	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42483075	G	A	42483075	2	1	7	1	0	0	0	0	0	0	0	1	10293	933	33	1		1	NDUFA6	22	42483075	Silent	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	4997411	42483075	8821491	114	672										
NLGN4X	57502	genome.wustl.edu	37	chrX	5811015	5811015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ggatgtcatctggcgaccggCgcagcgtgagggtgtagtct	17	9	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:5811015C>T	ENST00000381095.3	-	6	2921	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	NLGN4X_ENST00000381093.2_Missense_Mutation_p.R785H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R765H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R765H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R765H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	765					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGACCGGCGCAGCGTGAG	0.562																																																	0													242	196	211					X																	5811015		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2294G>A	X.37:g.5811015C>T	ENSP00000370485:p.Arg765His		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R785H	ENST00000381095.3	37	c.2354	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360647	0.61403	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	3.82	3.82	0.43975	.	0.000000	0.35291	N	0.003307	T	0.46814	0.1412	M	0.79123	2.44	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.985;0.985;0.993	T	0.54364	-0.8305	10	0.87932	D	0	.	14.222	0.65833	0.0:1.0:0.0:0.0	.	822;765;785	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	765;785;765;765;765	ENSP00000370485:R765H;ENSP00000370483:R785H;ENSP00000275857:R765H;ENSP00000370482:R765H;ENSP00000439203:R765H	ENSP00000275857:R765H	R	-	2	0	NLGN4X	5821015	1.000000	0.71417	0.069000	0.20011	0.548000	0.35241	6.717000	0.74707	1.508000	0.48769	0.513000	0.50165	CGC	NLGN4X	-	NULL		0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	C	NM_020742		5811015	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5811015	C	T	5811015	3	4	7	1	0	0	0	0	1	0	0	0	10488	768	27	2	160	2	NLGN4X	23	5811015	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08		5811015	149459545	115	673										
PPEF1	5475	genome.wustl.edu	37	chrX	18748335	18748335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gatcatccagaactggtaccGaggttacaaagctcgactga	10	10	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:18748335G>A	ENST00000361511.4	+	5	577	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	PPEF1_ENST00000349874.5_Missense_Mutation_p.R28Q|PPEF1_ENST00000543630.1_Missense_Mutation_p.R28Q|PPEF1_ENST00000359763.6_Missense_Mutation_p.R28Q|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	28	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AACTGGTACCGAGGTTACAAA	0.458																																																	0													214	151	172					X																	18748335		2203	4300	6503	SO:0001583	missense	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.83G>A	X.37:g.18748335G>A	ENSP00000354871:p.Arg28Gln		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.R28Q	ENST00000361511.4	37	c.83	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870623	0.91587	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.85	4.99	0.66335	.	0.254138	0.28284	N	0.015919	D	0.88198	0.6372	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.997	D	0.89327	0.3644	10	0.87932	D	0	-11.7722	12.9705	0.58510	0.0808:0.0:0.9192:0.0	.	28;28;28	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	Q	28	ENSP00000354871:R28Q;ENSP00000352806:R28Q;ENSP00000341892:R28Q;ENSP00000437785:R28Q	ENSP00000341892:R28Q	R	+	2	0	PPEF1	18658256	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	8.533000	0.90617	1.230000	0.43646	0.594000	0.82650	CGA	PPEF1	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_IQ_motif_EF-hand-BS		0.458	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	G	NM_006240		18748335	1	no_errors	ENST00000361511	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18748335	G	A	18748335	3	1	7	1	0	0	0	0	1	0	0	0	12331	1058	37	1	89	1	PPEF1	23	18748335	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	12937320	18748335	136522225	116	674										
PRRG1	5638	genome.wustl.edu	37	chrX	37312800	37312800	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	ctcatttagacccacccccaGagtatgaggacatagtcaac	7	13	2	3			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:37312800G>A	ENST00000542554.1	+	5	855	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.E195K|PRRG1_ENST00000449135.2_Missense_Mutation_p.E195K|PRRG1_ENST00000543642.1_Missense_Mutation_p.E195K|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	195						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CCCACCCCCAGAGTATGAGGA	0.498																																																	0													85	67	73					X																	37312800		2202	4300	6502	SO:0001583	missense	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.583G>A	X.37:g.37312800G>A	ENSP00000444278:p.Glu195Lys		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E195K	ENST00000542554.1	37	c.583	CCDS14239.1	X	.	.	.	.	.	.	.	.	.	.	G	4.407	0.075272	0.08485	.	.	ENSG00000130962	ENST00000378628;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.96	5.09	0.68999	.	0.160103	0.56097	D	0.000029	D	0.92087	0.7492	N	0.04508	-0.205	0.35832	D	0.825358	B	0.20052	0.041	B	0.18263	0.021	D	0.89123	0.3504	10	0.02654	T	1	-7.826	13.4268	0.61030	0.0:0.2297:0.7703:0.0	.	195	O14668	TMG1_HUMAN	K	195	ENSP00000367894:E195K;ENSP00000444278:E195K;ENSP00000443271:E195K;ENSP00000390332:E195K	ENSP00000367894:E195K	E	+	1	0	PRRG1	37197721	0.981000	0.34729	0.939000	0.37840	0.992000	0.81027	2.131000	0.42074	2.524000	0.85096	0.600000	0.82982	GAG	PRRG1	-	NULL		0.498	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	G	NM_000950		37312800	1	no_errors	ENST00000378628	ensembl	human	known	70_37	missense	SNP	0.892	A	A	37312800	G	A	37312800	3	1	7	1	0	0	0	0	1	0	0	0	12632	943	33	1	675	1	PRRG1	23	37312800	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	18564465	37312800	117957760	117	675										
PRICKLE3	4007	genome.wustl.edu	37	chrX	49032207	49032207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gccatcatcctctgatgattCggaactggaactggagggcg	13	10	2	2	rs144390456	byFrequency	TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:49032207C>T	ENST00000376317.3	-	9	1757	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.E474K|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.E487K|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.E379K	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	555	Poly-Ser.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCTGATGATTCGGAACTGGAA	0.577																																																	0									LYS/GLU	0,3835		0,0,0,1632,571	155	123	134		1663	3.2	0.6	X	dbSNP_134	134	1,6727		0,0,1,2428,1871	no	missense	PRICKLE3	NM_006150.3	56	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	555/616	49032207	1,10562	2203	4300	6503	SO:0001583	missense	4007			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1663G>A	X.37:g.49032207C>T	ENSP00000365494:p.Glu555Lys		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E555K	ENST00000376317.3	37	c.1663	CCDS14320.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.91|14.91	2.676970|2.676970	0.47886|0.47886	0.0|0.0	1.49E-4|1.49E-4	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382	T;T;T;T|.	0.71579|.	-0.48;-0.5;-0.49;-0.58|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	0.000000|.	0.39020|.	N|.	0.001490|.	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.24115|0.24115	0.695|0.695	0.33080|0.33080	D|D	0.536481|0.536481	D;D;D|.	0.71674|.	0.998;0.998;0.995|.	P;P;P|.	0.52793|.	0.709;0.709;0.522|.	T|T	0.45396|0.45396	-0.9264|-0.9264	10|5	0.72032|.	D|.	0.01|.	-23.0887|-23.0887	9.1165|9.1165	0.36762|0.36762	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	517;474;555|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	K|Q	555;474;487;379|567	ENSP00000365494:E555K;ENSP00000441385:E474K;ENSP00000446051:E487K;ENSP00000441743:E379K|.	ENSP00000365494:E555K|.	E|R	-|-	1|2	0|0	PRICKLE3|PRICKLE3	48919151|48919151	0.994000|0.994000	0.37717|0.37717	0.631000|0.631000	0.29282|0.29282	0.431000|0.431000	0.31685|0.31685	3.601000|3.601000	0.54059|0.54059	1.888000|1.888000	0.54679|0.54679	0.455000|0.455000	0.32223|0.32223	GAA|CGA	PRICKLE3	-	NULL		0.577	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	C	NM_006150		49032207	-1	no_errors	ENST00000376317	ensembl	human	known	70_37	missense	SNP	0.869	T	T	49032207	C	T	49032207	3	4	7	1	0	0	0	0	1	0	0	0	12515	893	31	1	188	1	PRICKLE3	23	49032207	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	11719407	49032207	106238353	118	676										
ZC3H12B	340554	genome.wustl.edu	37	chrX	64722635	64722635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	catgcctcccaatatccatcCtggggcaaccccccagccag	7	19	0	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:64722635C>T	ENST00000338957.4	+	5	2124	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P675L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	686							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATATCCATCCTGGGGCAACC	0.587																																																	0													39	41	40					X																	64722635		1970	4137	6107	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2057C>T	X.37:g.64722635C>T	ENSP00000340839:p.Pro686Leu		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.P686L	ENST00000338957.4	37	c.2057	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128580	0.37533	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.23950	1.88;1.88	5.79	3.93	0.45458	.	0.212807	0.50627	D	0.000119	T	0.25044	0.0608	L	0.51422	1.61	0.45762	D	0.998652	D	0.53619	0.961	P	0.44597	0.454	T	0.02126	-1.1209	10	0.45353	T	0.12	-38.2324	9.1794	0.37131	0.0:0.7743:0.1432:0.0825	.	675	Q5HYM0	ZC12B_HUMAN	L	686;675;622	ENSP00000340839:P686L;ENSP00000408077:P675L	ENSP00000218172:P622L	P	+	2	0	ZC3H12B	64639360	1.000000	0.71417	0.927000	0.36925	0.949000	0.60115	4.544000	0.60691	1.197000	0.43143	0.506000	0.49869	CCT	ZC3H12B	-	NULL		0.587	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	C	XM_293334		64722635	1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	0.569	T	T	64722635	C	T	64722635	3	4	7	1	0	0	0	0	1	0	0	0	17592	681	24	4	2075	4	ZC3H12B	23	64722635	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	15690428	64722635	90547925	119	677										
PJA1	64219	genome.wustl.edu	37	chrX	68383010	68383010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	taagcatgccttcttccataCctcctacctgtattggactg	6	13	1	0			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:68383010C>T	ENST00000361478.1	-	2	449	c.72G>A	c.(70-72)agG>agA	p.R24R	PJA1_ENST00000374583.1_Silent_p.R24R|PJA1_ENST00000374584.3_Silent_p.R24R|PJA1_ENST00000477231.1_Intron|PJA1_ENST00000374571.4_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	24					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTCCATACCTCCTACCTG	0.512																																																	0													167	145	152					X																	68383010		2203	4300	6503	SO:0001819	synonymous_variant	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.72G>A	X.37:g.68383010C>T			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R24	ENST00000361478.1	37	c.72	CCDS14393.1	X																																																																																			PJA1	-	NULL		0.512	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	C	NM_145119		68383010	-1	no_errors	ENST00000361478	ensembl	human	known	70_37	silent	SNP	0.998	T	T	68383010	C	T	68383010	2	4	7	1	0	0	0	0	0	0	0	1	11985	506	18	4		4	PJA1	23	68383010	Silent	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	3660375	68383010	86887550	120	678										
BTK	695	genome.wustl.edu	37	chrX	100604945	100604945	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	gtgggacgctcatctgctttCtaaaaccaaagaaaaagtaa	8	8	3	1			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:100604945C>G	ENST00000308731.7	-	19	2072		c.e19-1		BTK_ENST00000372880.1_Splice_Site|TIMM8A_ENST00000372902.3_5'Flank|TIMM8A_ENST00000480575.1_5'Flank	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATCTGCTTTCTAAAACCAAA	0.363									Agammaglobulinemia, X-linked																																								0													93	94	94					X																	100604945		2203	4300	6503	SO:0001630	splice_region_variant	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1909-1G>C	X.37:g.100604945C>G			B2RAW1|Q32ML5	Splice_Site	SNP	-	e18-1	ENST00000308731.7	37	c.1909-1	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470571	0.63625	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000308731	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2898	0.73857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTK	100491601	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.399000	0.66314	2.288000	0.76882	0.523000	0.50628	.	BTK	-	-		0.363	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	C	NM_000061	Intron	100604945	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	100604945	C	G	100604945	5	3	7	1	0	0	0	0	0	0	1	0	1560	927	32	1	75	1	BTK	23	100604945	Splice_Site	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	32221935	100604945	54665615	121	679										
COL4A5	1287	genome.wustl.edu	37	chrX	107834847	107834847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	caggatctccaggtgataaaGgactccaaggagaacaagga	12	8	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:107834847G>A	ENST00000361603.2	+	21	1640	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	COL4A5_ENST00000328300.6_Missense_Mutation_p.G466R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	466	Triple-helical region.		G -> E (in APSX).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G466*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTGATAAAGGACTCCAAGG	0.418									Alport syndrome with Diffuse Leiomyomatosis																																								1	Substitution - Nonsense(1)	large_intestine(1)											98	101	100					X																	107834847		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1396G>A	X.37:g.107834847G>A	ENSP00000354505:p.Gly466Arg		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G466R	ENST00000361603.2	37	c.1396	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	g	13.35	2.212062	0.39102	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99186	-5.53;-5.53	5.22	5.22	0.72569	.	0.059497	0.64402	D	0.000003	D	0.99363	0.9776	H	0.94698	3.57	0.80722	D	1	D;D;D	0.63880	0.964;0.993;0.964	P;P;P	0.57371	0.554;0.819;0.554	D	0.98681	1.0692	10	0.87932	D	0	.	16.8192	0.85741	0.0:0.0:1.0:0.0	.	466;74;466	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	R	466	ENSP00000331902:G466R;ENSP00000354505:G466R	ENSP00000331902:G466R	G	+	1	0	COL4A5	107721503	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	8.504000	0.90512	2.178000	0.69098	0.464000	0.42555	GGA	COL4A5	-	NULL		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107834847	1	no_errors	ENST00000328300	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107834847	G	A	107834847	3	1	7	1	0	0	0	0	1	0	0	0	3699	1001	35	4	1478	4	COL4A5	23	107834847	Missense_Mutation	SNP	G	TCGA-C5-A1BI-01B-11D-A13W-08	7229902	107834847	47435713	122	680										
IGSF1	3547	genome.wustl.edu	37	chrX	130410033	130410033	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.544715447154472	67	2.4823077818203e-22	3.56239493618346	4.68782816229117	3.16518320932191	0.00060594119041332	0.0046398906172677	48	agttcccagagtcctctgctCcaacagtgtggagaaggaag	12	10	1	2			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:130410033C>G	ENST00000361420.3	-	15	2877	c.2798G>C	c.(2797-2799)gGa>gCa	p.G933A	IGSF1_ENST00000370904.1_Missense_Mutation_p.G924A|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.G938A|IGSF1_ENST00000370910.1_Missense_Mutation_p.G924A			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	933	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCCTCTGCTCCAACAGTGTG	0.517																																																	0													98	75	83					X																	130410033		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2798G>C	X.37:g.130410033C>G	ENSP00000355010:p.Gly933Ala		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G938A	ENST00000361420.3	37	c.2813	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	C	4.174	0.030908	0.08101	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.2	2.14	0.27477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.532230	0.03451	N	0.210758	T	0.13927	0.0337	L	0.39566	1.225	0.09310	N	1	B;B;B	0.30824	0.073;0.043;0.296	B;B;B	0.33846	0.074;0.077;0.171	T	0.29971	-0.9994	10	0.49607	T	0.09	.	3.9271	0.09269	0.0:0.569:0.1933:0.2377	.	924;377;933	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	A	924;933;924;938	ENSP00000359947:G924A;ENSP00000355010:G933A;ENSP00000359941:G924A;ENSP00000359940:G938A	ENSP00000355010:G933A	G	-	2	0	IGSF1	130237714	0.002000	0.14202	0.024000	0.17045	0.818000	0.46254	1.018000	0.30002	0.474000	0.27392	0.600000	0.82982	GGA	IGSF1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	C			130410033	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	missense	SNP	0.011	G	G	130410033	C	G	130410033	3	3	7	1	0	0	0	0	1	0	0	0	7616	855	30	1	1236	1	IGSF1	23	130410033	Missense_Mutation	SNP	C	TCGA-C5-A1BI-01B-11D-A13W-08	22575186	130410033	24860527	123	681										
HNRNPCL1	343069	genome.wustl.edu	37	chr1	12907428	12907428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttctgcacccccctcagactCcatcttcacatgagtctcat	4	17	5	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:12907428C>T	ENST00000317869.6	-	2	940	c.715G>A	c.(715-717)Gag>Aag	p.E239K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	239						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CCCTCAGACTCCATCTTCACA	0.488																																																	0													118	118	118					1																	12907428		2203	4298	6501	SO:0001583	missense	343069			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.715G>A	1.37:g.12907428C>T	ENSP00000365370:p.Glu239Lys		B2RP44	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.E239K	ENST00000317869.6	37	c.715	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259927	0.23051	.	.	ENSG00000179172	ENST00000317869	T	0.10382	2.88	1.09	1.09	0.20402	.	0.799415	0.11251	U	0.583620	T	0.22003	0.0530	M	0.61703	1.905	0.27240	N	0.959174	D	0.64830	0.994	D	0.72338	0.977	T	0.14868	-1.0457	10	0.32370	T	0.25	.	3.4306	0.07426	0.0:0.7251:0.0:0.2749	.	239	O60812	HNRCL_HUMAN	K	239	ENSP00000365370:E239K	ENSP00000365370:E239K	E	-	1	0	HNRNPCL1	12830015	1.000000	0.71417	0.649000	0.29536	0.047000	0.14425	1.720000	0.38022	0.916000	0.36871	0.416000	0.27883	GAG	HNRNPCL1	-	pirsf_hnRNP_C_Raly		0.488	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	HGNC	protein_coding	OTTHUMT00000005462.1	C	NM_001013631		12907428	-1	no_errors	ENST00000317869	ensembl	human	known	70_37	missense	SNP	0.998	T	T	12907428	C	T	12907428	3	4	8	1	0	0	0	0	1	0	0	0	7283	864	30	1	168	1	HNRNPCL1	1	12907428	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		12907428	236343193	1	682										
RAP1GAP	5909	genome.wustl.edu	37	chr1	21934836	21934836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tctccaggagggcggcccgcGtccgctcctgtgggccaggc	16	16	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:21934836G>A	ENST00000374765.4	-	17	1366	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T453M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T389M|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T420M|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.T389M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	389	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGCGGCCCGCGTCCGCTCCTG	0.647																																																	0													41	40	40					1																	21934836		2203	4300	6503	SO:0001583	missense	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1166C>T	1.37:g.21934836G>A	ENSP00000363897:p.Thr389Met		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP	p.T453M	ENST00000374765.4	37	c.1358	CCDS218.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294882	0.81025	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	4.9	4.9	0.64082	Rap/ran-GAP (2);	0.053522	0.85682	N	0.000000	D	0.98385	0.9463	H	0.95611	3.695	0.80722	D	1	P;D;D;D	0.89917	0.907;1.0;1.0;1.0	B;D;D;D	0.83275	0.401;0.98;0.996;0.982	D	0.99671	1.0996	10	0.87932	D	0	-22.3892	15.5443	0.76081	0.0:0.0:1.0:0.0	.	389;389;419;389	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	M	453;420;389;389;419;389	ENSP00000290101:T453M;ENSP00000363893:T420M;ENSP00000441661:T389M;ENSP00000363897:T389M	ENSP00000290101:T453M	T	-	2	0	RAP1GAP	21807423	1.000000	0.71417	0.946000	0.38457	0.739000	0.42172	9.445000	0.97587	2.267000	0.75376	0.407000	0.27541	ACG	RAP1GAP	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.647	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2	G	NM_002885		21934836	-1	no_errors	ENST00000290101	ensembl	human	known	70_37	missense	SNP	0.999	A	A	21934836	G	A	21934836	3	1	8	1	0	0	0	0	1	0	0	0	13067	1145	40	2	939	2	RAP1GAP	1	21934836	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	9027408	21934836	227315785	2	683										
GPN2	63906	genome.wustl.edu	37	chr1	27216479	27216479	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	caccaccgccacgcgccggcCcagcgcgcgcaggaactcac	11	21	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:27216479C>G	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Missense_Mutation_p.G37R|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ACGCGCCGGCCCAGCGCGCGC	0.726																																																	0													15	17	16					1																	27216479		2188	4282	6470	SO:0001628	intergenic_variant	54707			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216479C>G			Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd	p.G37R	ENST00000361720.5	37	c.109	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.785279	0.96937	.	.	ENSG00000142751	ENST00000374135;ENST00000374131;ENST00000431781	T	0.31247	1.5	4.8	4.8	0.61643	.	0.113317	0.64402	D	0.000013	T	0.49270	0.1547	M	0.73962	2.25	0.80722	D	1	P	0.36587	0.559	P	0.49047	0.599	T	0.45175	-0.9279	10	0.37606	T	0.19	-36.014	17.6553	0.88176	0.0:1.0:0.0:0.0	.	37	Q9H9Y4	GPN2_HUMAN	R	37	ENSP00000363250:G37R	ENSP00000363246:G37R	G	-	1	0	GPN2	27089066	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.563000	0.82314	2.495000	0.84180	0.655000	0.94253	GGC	GPN2	-	pfam_Uncharacterised_ATP-bd		0.726	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN2	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27216479	-1	no_errors	ENST00000374135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27216479	C	G	27216479	1	3	8	0	1	0	0	0	0	0	0	0	6637	623	22	4		4	GPN2	1	27216479	IGR	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	5281643	27216479	222034142	3	684										
STIL	6491	genome.wustl.edu	37	chr1	47748081	47748081	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aatcttcatcttcaacaccaGagtcgtgatcatgtattggc	7	10	5	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:47748081G>C	ENST00000360380.3	-	12	1547	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	STIL_ENST00000371877.3_Missense_Mutation_p.S395C|STIL_ENST00000396221.2_Missense_Mutation_p.S395C|STIL_ENST00000337817.5_Missense_Mutation_p.S395C|STIL_ENST00000243182.6_Missense_Mutation_p.S395C	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	395					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCAACACCAGAGTCGTGATC	0.398																																																	0													132	134	134					1																	47748081		2203	4300	6503	SO:0001583	missense	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1184C>G	1.37:g.47748081G>C	ENSP00000353544:p.Ser395Cys		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.S395C	ENST00000360380.3	37	c.1184	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722299	0.68959	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	5.74	5.74	0.90152	.	0.048497	0.85682	D	0.000000	T	0.76601	0.4010	M	0.75447	2.3	0.58432	D	0.999991	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;P;P;P	0.65443	0.867;0.935;0.867;0.877;0.877	T	0.78283	-0.2264	10	0.87932	D	0	-14.9145	19.9277	0.97108	0.0:0.0:1.0:0.0	.	395;348;395;395;395	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	C	395;395;395;395;395;348	ENSP00000353544:S395C;ENSP00000337367:S395C;ENSP00000360944:S395C;ENSP00000379523:S395C;ENSP00000243182:S395C;ENSP00000411664:S348C	ENSP00000243182:S395C	S	-	2	0	STIL	47520668	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.477000	0.81069	2.710000	0.92621	0.561000	0.74099	TCT	STIL	-	NULL		0.398	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	G	NM_003035		47748081	-1	no_errors	ENST00000371877	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47748081	G	C	47748081	3	2	8	1	0	0	0	0	1	0	0	0	15312	942	33	1	2710	1	STIL	1	47748081	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	20531602	47748081	201502540	4	685										
EPS15	2060	genome.wustl.edu	37	chr1	51912653	51912653	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atatatgggctagtaaggtaGaaggtaaacctgttttcaag	11	4	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:51912653G>C	ENST00000371733.3	-	10	872	c.776C>G	c.(775-777)tCt>tGt	p.S259C	EPS15_ENST00000371730.2_Missense_Mutation_p.S259C	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	259	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TAGTAAGGTAGAAGGTAAACC	0.313			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											112	115	114					1																	51912653		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.776C>G	1.37:g.51912653G>C	ENSP00000360798:p.Ser259Cys		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.S259C	ENST00000371733.3	37	c.776	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220565	0.58560	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.32753	1.44;1.44	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32041	N	0.006669	T	0.63343	0.2503	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	T	0.67608	-0.5627	10	0.87932	D	0	.	19.9312	0.97120	0.0:0.0:1.0:0.0	.	259;259	B1AUU8;P42566	.;EPS15_HUMAN	C	259	ENSP00000360795:S259C;ENSP00000360798:S259C	ENSP00000360795:S259C	S	-	2	0	EPS15	51685241	1.000000	0.71417	0.999000	0.59377	0.505000	0.33919	4.450000	0.60041	2.720000	0.93068	0.491000	0.48974	TCT	EPS15	-	smart_EPS15_homology,pfscan_EPS15_homology		0.313	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	G	NM_001981		51912653	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	0.963	C	C	51912653	G	C	51912653	3	2	8	1	0	0	0	0	1	0	0	0	5204	942	33	1	2076	1	EPS15	1	51912653	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	4164572	51912653	197337968	5	686										
NTNG1	22854	genome.wustl.edu	37	chr1	107973459	107973459	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gagctgtaaacacaacactaGagggcagcactgtgagttat	11	8	0	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:107973459G>C	ENST00000370068.1	+	6	2021	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	NTNG1_ENST00000370073.2_Missense_Mutation_p.R392T|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.R392T|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.R392T|NTNG1_ENST00000370065.1_Missense_Mutation_p.R392T			Q9Y2I2	NTNG1_HUMAN	netrin G1	392	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CACAACACTAGAGGGCAGCAC	0.448																																																	0													121	105	110					1																	107973459		1568	3582	5150	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1175G>C	1.37:g.107973459G>C	ENSP00000359085:p.Arg392Thr		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R392T	ENST00000370068.1	37	c.1175	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243552	0.58995	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370072;ENST00000370064;ENST00000370068;ENST00000370065	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.58	5.58	0.84498	EGF-like, laminin (4);	0.000000	0.64402	D	0.000004	T	0.30070	0.0753	N	0.11870	0.19	0.80722	D	1	P	0.49185	0.92	P	0.47603	0.551	T	0.28933	-1.0028	10	0.05620	T	0.96	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	392	Q9Y2I2	NTNG1_HUMAN	T	392;392;392;195;392;392	ENSP00000359090:R392T;ENSP00000440561:R392T;ENSP00000359089:R392T;ENSP00000359085:R392T;ENSP00000359082:R392T	ENSP00000359081:R195T	R	+	2	0	NTNG1	107774982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.860000	0.99555	2.630000	0.89119	0.655000	0.94253	AGA	NTNG1	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom		0.448	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	G	NM_014917		107973459	1	no_errors	ENST00000370068	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107973459	G	C	107973459	3	2	8	1	0	0	0	0	1	0	0	0	10728	942	33	1	1327	1	NTNG1	1	107973459	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	56060806	107973459	141277162	6	687										
C1orf14	81626	genome.wustl.edu	37	chr1	182908672	182908672	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atcatcccagtctctccaaaGaaagtcataaaaaaacctac	3	12	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:182908672G>C	ENST00000367547.3	-	4	1023	c.787C>G	c.(787-789)Ctt>Gtt	p.L263V	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.L144V|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	335										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCTCTCCAAAGAAAGTCATAA	0.308																																																	0													25	23	24					1																	182908672		2187	4279	6466	SO:0001583	missense	81626			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.787C>G	1.37:g.182908672G>C	ENSP00000356518:p.Leu263Val		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.L263V	ENST00000367547.3	37	c.787	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010467	0.54361	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.55234	0.53;0.57	4.87	4.87	0.63330	.	0.000000	0.49305	D	0.000152	T	0.68247	0.2980	L	0.59436	1.845	0.36527	D	0.870516	D;D	0.71674	0.998;0.996	D;D	0.83275	0.996;0.986	T	0.74487	-0.3649	10	0.49607	T	0.09	-14.3604	14.9335	0.70935	0.0:0.0:1.0:0.0	.	144;263	Q9BZQ2-2;Q9BZQ2-3	.;.	V	263;332;144	ENSP00000356518:L263V;ENSP00000397308:L144V	ENSP00000287709:L332V	L	-	1	0	SHCBP1L	181175295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.360000	0.66086	2.253000	0.74438	0.563000	0.77884	CTT	SHCBP1L	-	NULL		0.308	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	G	NM_030933		182908672	-1	no_errors	ENST00000367547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	182908672	G	C	182908672	3	2	8	1	0	0	0	0	1	0	0	0	2005	942	33	1	1202	1	C1orf14	1	182908672	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	74935213	182908672	66341949	7	688										
ELK4	2005	genome.wustl.edu	37	chr1	205589548	205589548	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gagaaatacttgggccaattGaaatggtggcagcaacaggt	13	6	0	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:205589548G>C	ENST00000357992.4	-	3	965	c.626C>G	c.(625-627)tCa>tGa	p.S209*	ELK4_ENST00000289703.4_Nonsense_Mutation_p.S209*|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	209					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGGGCCAATTGAAATGGTGGC	0.483			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	0													79	82	81					1																	205589548		2203	4300	6503	SO:0001587	stop_gained	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.626C>G	1.37:g.205589548G>C	ENSP00000350681:p.Ser209*		P28323|Q6GSJ2	Nonsense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S209*	ENST00000357992.4	37	c.626	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704966	0.68615	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	.	.	.	5.81	4.9	0.64082	.	0.369547	0.31188	N	0.008092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	13.2875	0.60251	0.076:0.0:0.924:0.0	.	.	.	.	X	299;209;209	.	ENSP00000289703:S209X	S	-	2	0	ELK4	203856171	.	.	0.003000	0.11579	0.033000	0.12548	.	.	1.462000	0.47948	0.655000	0.94253	TCA	ELK4	-	NULL		0.483	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	G	NM_021795		205589548	-1	no_errors	ENST00000357992	ensembl	human	known	70_37	nonsense	SNP	0.014	C	C	205589548	G	C	205589548	4	2	8	1	0	0	0	0	0	1	0	0	5073	1294	45	1	819	1	ELK4	1	205589548	Nonsense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	22680876	205589548	43661073	8	689										
MARK1	4139	genome.wustl.edu	37	chr1	220809274	220809274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gtgggacaaagatgtggctcGaaaacttggcagcacaacag	13	8	0	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr1:220809274G>A	ENST00000366917.4	+	13	1642	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	MARK1_ENST00000402574.1_Missense_Mutation_p.R324Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R437Q					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GATGTGGCTCGAAAACTTGGC	0.463																																																	0													104	101	102					1																	220809274		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1376G>A	1.37:g.220809274G>A	ENSP00000355884:p.Arg459Gln			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R459Q	ENST00000366917.4	37	c.1376	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230843	0.58777	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.32753	1.44;1.44;1.44	6.03	4.94	0.65067	.	0.062452	0.64402	D	0.000005	T	0.30696	0.0773	L	0.60957	1.885	0.41585	D	0.988766	P;B;P;B	0.39094	0.659;0.121;0.48;0.047	B;B;B;B	0.34385	0.181;0.024;0.181;0.056	T	0.11591	-1.0581	10	0.42905	T	0.14	.	16.1889	0.81972	0.0733:0.0:0.9267:0.0	.	459;324;459;437	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	Q	324;437;459	ENSP00000386017:R324Q;ENSP00000355885:R437Q;ENSP00000355884:R459Q	ENSP00000355884:R459Q	R	+	2	0	MARK1	218875897	1.000000	0.71417	0.201000	0.23476	0.996000	0.88848	6.138000	0.71717	2.861000	0.98227	0.655000	0.94253	CGA	MARK1	-	NULL		0.463	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	G			220809274	1	no_errors	ENST00000366917	ensembl	human	known	70_37	missense	SNP	0.985	A	A	220809274	G	A	220809274	3	1	8	1	0	0	0	0	1	0	0	0	9335	1058	37	1	1426	1	MARK1	1	220809274	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	15219726	220809274	28441347	9	690										
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27892132	27892132	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aagattacctgtggacgattCaactggaaaacaactggtgg	11	7	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:27892132C>G	ENST00000326019.6	+	5	1505	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	408						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GTGGACGATTCAACTGGAAAA	0.398																																																	0													188	187	188					2																	27892132		2203	4300	6503	SO:0001587	stop_gained	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1223C>G	2.37:g.27892132C>G	ENSP00000323837:p.Ser408*		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S408*	ENST00000326019.6	37	c.1223	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.441291	0.98813	.	.	ENSG00000163798	ENST00000326019	.	.	.	5.65	5.65	0.86999	.	0.052606	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-12.8024	19.7408	0.96230	0.0:1.0:0.0:0.0	.	.	.	.	X	408	.	ENSP00000323837:S408X	S	+	2	0	SLC4A1AP	27745636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.671000	0.90904	0.650000	0.86243	TCA	SLC4A1AP	-	pfam_Ds-RNA-bd		0.398	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	C	NM_018158		27892132	1	no_errors	ENST00000326019	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	27892132	C	G	27892132	4	3	8	1	0	0	0	0	0	1	0	0	14683	838	29	1	1241	1	SLC4A1AP	2	27892132	Nonsense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		27892132	215307241	10	691										
PLEKHH2	130271	genome.wustl.edu	37	chr2	43919764	43919764	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cgctaatacaggaaaaagatGacgtcattcaaaacttggaa	8	7	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:43919764G>A	ENST00000282406.4	+	4	408	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	100					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGAAAAAGATGACGTCATTCA	0.343																																																	0													91	95	93					2																	43919764		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.298G>A	2.37:g.43919764G>A	ENSP00000282406:p.Asp100Asn		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.D100N	ENST00000282406.4	37	c.298	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765443	0.69878	.	.	ENSG00000152527	ENST00000282406	T	0.28895	1.59	5.24	5.24	0.73138	.	0.116972	0.56097	D	0.000037	T	0.48132	0.1483	L	0.50333	1.59	0.42369	D	0.992446	B;P	0.52316	0.321;0.952	B;P	0.58454	0.136;0.839	T	0.46735	-0.9170	10	0.62326	D	0.03	-21.3664	18.8153	0.92075	0.0:0.0:1.0:0.0	.	100;100	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	N	100	ENSP00000282406:D100N	ENSP00000282406:D100N	D	+	1	0	PLEKHH2	43773268	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.147000	0.77382	2.453000	0.82957	0.563000	0.77884	GAC	PLEKHH2	-	NULL		0.343	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	G	NM_172069		43919764	1	no_errors	ENST00000282406	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43919764	G	A	43919764	3	1	8	1	0	0	0	0	1	0	0	0	12101	1290	45	1	308	1	PLEKHH2	2	43919764	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	16027632	43919764	199279609	11	692										
CCDC88A	55704	genome.wustl.edu	37	chr2	55561412	55561412	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	attttcttctaatgtggtatCtttaatttctgcttgttgtc	6	6	4	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:55561412C>G	ENST00000436346.1	-	15	3386	c.2545G>C	c.(2545-2547)Gat>Cat	p.D849H	CCDC88A_ENST00000263630.8_Missense_Mutation_p.D849H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D849H|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D849H|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	849					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATGTGGTATCTTTAATTTCT	0.313																																																	0													126	123	124					2																	55561412		2203	4297	6500	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2545G>C	2.37:g.55561412C>G	ENSP00000410608:p.Asp849His		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.D849H	ENST00000436346.1	37	c.2545		2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546300	0.65198	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.38887	2.24;2.48;2.46;2.26;1.11	5.43	5.43	0.79202	.	0.000000	0.49305	U	0.000147	T	0.66317	0.2777	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.999;0.99;0.995;0.999	T	0.67309	-0.5703	10	0.62326	D	0.03	-21.8341	19.678	0.95945	0.0:1.0:0.0:0.0	.	849;849;849;849;849	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	H	849;849;849;849;24	ENSP00000338728:D849H;ENSP00000263630:D849H;ENSP00000410608:D849H;ENSP00000404431:D849H;ENSP00000405080:D24H	ENSP00000263630:D849H	D	-	1	0	CCDC88A	55414916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.543000	0.82106	2.725000	0.93324	0.552000	0.68991	GAT	CCDC88A	-	superfamily_Prefoldin		0.313	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55561412	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55561412	C	G	55561412	3	3	8	1	0	0	0	0	1	0	0	0	2868	913	32	1	3142	1	CCDC88A	2	55561412	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	11641648	55561412	187637961	12	693										
CCDC88A	55704	genome.wustl.edu	37	chr2	55561454	55561454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gagtctcttattttccttctCcaattgtttcttatcctttt	3	10	3	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:55561454C>T	ENST00000436346.1	-	15	3344	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E835K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E835K|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E835K|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	835					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCCTTCTCCAATTGTTTC	0.308																																																	0													135	130	132					2																	55561454		2203	4297	6500	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2503G>A	2.37:g.55561454C>T	ENSP00000410608:p.Glu835Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E835K	ENST00000436346.1	37	c.2503		2	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450382	0.63290	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.39229	2.12;2.32;2.35;2.14;1.09	5.43	5.43	0.79202	.	0.000000	0.48286	U	0.000196	T	0.56630	0.1998	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.995;0.999;0.998	D;D;P;D;D	0.85130	0.945;0.991;0.883;0.997;0.994	T	0.55927	-0.8063	10	0.52906	T	0.07	-13.5231	19.678	0.95945	0.0:1.0:0.0:0.0	.	835;835;835;835;835	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	K	835;835;835;835;10	ENSP00000338728:E835K;ENSP00000263630:E835K;ENSP00000410608:E835K;ENSP00000404431:E835K;ENSP00000405080:E10K	ENSP00000263630:E835K	E	-	1	0	CCDC88A	55414958	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.931000	0.70113	2.725000	0.93324	0.552000	0.68991	GAG	CCDC88A	-	superfamily_Prefoldin		0.308	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55561454	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55561454	C	T	55561454	3	4	8	1	0	0	0	0	1	0	0	0	2868	864	30	1	3184	1	CCDC88A	2	55561454	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	42	55561454	187637919	13	694										
C2orf86	51057	genome.wustl.edu	37	chr2	63401965	63401965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tctgtccaagggtcccaggaGttctgttgaaaatgattaat	10	7	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:63401965G>A	ENST00000272321.7	-	15	2445	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	WDPCP_ENST00000409120.1_Missense_Mutation_p.L448F|WDPCP_ENST00000398544.3_Missense_Mutation_p.L481F|WDPCP_ENST00000409199.1_Missense_Mutation_p.L448F	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	640					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GGTCCCAGGAGTTCTGTTGAA	0.398																																																	0													104	95	97					2																	63401965		1849	4095	5944	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1918C>T	2.37:g.63401965G>A	ENSP00000272321:p.Leu640Phe		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.L640F	ENST00000272321.7	37	c.1918	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	G	6.151	0.396080	0.11638	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.74315	-0.83;-0.25;-0.25;-0.25	5.58	3.77	0.43336	.	0.156839	0.27773	N	0.017907	T	0.64360	0.2591	L	0.34521	1.04	0.80722	D	1	B;B	0.28552	0.137;0.215	B;B	0.29663	0.049;0.105	T	0.57934	-0.7725	10	0.49607	T	0.09	-4.6198	12.1915	0.54275	0.1527:0.0:0.8473:0.0	.	640;481	O95876;O95876-3	FRITZ_HUMAN;.	F	640;448;448;481	ENSP00000272321:L640F;ENSP00000386592:L448F;ENSP00000386769:L448F;ENSP00000381552:L481F	ENSP00000272321:L640F	L	-	1	0	WDPCP	63255469	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	1.678000	0.37586	0.328000	0.23435	-1.151000	0.01829	CTC	WDPCP	-	NULL		0.398	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	G	NM_015910		63401965	-1	no_errors	ENST00000272321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63401965	G	A	63401965	3	1	8	1	0	0	0	0	1	0	0	0	2206	1029	36	4	338	4	C2orf86	2	63401965	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	7840511	63401965	179797408	14	695										
C2orf40	84417	genome.wustl.edu	37	chr2	106694362	106694362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gctttaggcatggagccagcGtcaactacgatgactactaa	10	10	1	1	rs376920426		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:106694362G>A	ENST00000238044.3	+	4	536	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	C2orf40_ENST00000409944.1_Missense_Mutation_p.V107I	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	143					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						TGGAGCCAGCGTCAACTACGA	0.458													G|||	1	0.000199681	0	0	5008	,	,		19116	0.001		0	False		,,,				2504	0																0													93	72	79					2																	106694362		2203	4300	6503	SO:0001583	missense	84417			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.427G>A	2.37:g.106694362G>A	ENSP00000238044:p.Val143Ile		D3DVK2	Missense_Mutation	SNP	NULL	p.V143I	ENST00000238044.3	37	c.427	CCDS2072.1	2	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767937	0.69878	.	.	ENSG00000119147	ENST00000409944;ENST00000238044	T;T	0.52295	0.67;0.67	5.31	5.31	0.75309	.	0.140114	0.46442	D	0.000297	T	0.70325	0.3211	M	0.75264	2.295	0.53688	D	0.999975	D	0.71674	0.998	D	0.75484	0.986	T	0.74012	-0.3801	10	0.87932	D	0	-35.9597	18.9754	0.92733	0.0:0.0:1.0:0.0	.	143	Q9H1Z8	AUGN_HUMAN	I	107;143	ENSP00000386421:V107I;ENSP00000238044:V143I	ENSP00000238044:V143I	V	+	1	0	C2orf40	106060794	1.000000	0.71417	0.997000	0.53966	0.106000	0.19336	7.984000	0.88150	2.469000	0.83416	0.591000	0.81541	GTC	C2orf40	-	NULL		0.458	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	G	NM_032411		106694362	1	no_errors	ENST00000238044	ensembl	human	known	70_37	missense	SNP	0.999	A	A	106694362	G	A	106694362	3	1	8	1	0	0	0	0	1	0	0	0	2170	1145	40	2	441	2	C2orf40	2	106694362	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	43292397	106694362	136505011	15	696										
MERTK	10461	genome.wustl.edu	37	chr2	112766024	112766024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcagcgtgcatgaaagacttCagccacccaaatgtcattcg	9	12	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:112766024C>G	ENST00000295408.4	+	14	2189	c.1932C>G	c.(1930-1932)ttC>ttG	p.F644L	MERTK_ENST00000409780.1_Missense_Mutation_p.F468L|MERTK_ENST00000421804.2_Missense_Mutation_p.F644L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAAAGACTTCAGCCACCCAA	0.473																																																	0													112	100	104					2																	112766024		2203	4300	6503	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1932C>G	2.37:g.112766024C>G	ENSP00000295408:p.Phe644Leu		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F644L	ENST00000295408.4	37	c.1932	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041165	0.75732	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.55234	0.53;0.53;0.53	5.96	2.82	0.32997	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33005	U	0.005391	T	0.51415	0.1673	N	0.04959	-0.14	0.48901	D	0.999727	D	0.89917	1.0	D	0.97110	1.0	T	0.60910	-0.7169	10	0.87932	D	0	-34.6704	14.282	0.66219	0.0:0.7858:0.0:0.2142	.	644	Q12866	MERTK_HUMAN	L	644;644;286;468	ENSP00000295408:F644L;ENSP00000389152:F644L;ENSP00000387277:F468L	ENSP00000295408:F644L	F	+	3	2	MERTK	112482495	0.955000	0.32602	0.951000	0.38953	0.829000	0.46940	0.997000	0.29731	0.454000	0.26884	-0.895000	0.02911	TTC	MERTK	-	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,pfscan_Prot_kinase_cat_dom		0.473	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	C			112766024	1	no_errors	ENST00000295408	ensembl	human	known	70_37	missense	SNP	0.968	G	G	112766024	C	G	112766024	3	3	8	1	0	0	0	0	1	0	0	0	9502	825	29	1	1986	1	MERTK	2	112766024	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	6071662	112766024	130433349	16	697										
INHBB	3625	genome.wustl.edu	37	chr2	121107168	121107168	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttcttcattgacttccgcctCatcggctggaacgactggat	9	12	3	1	rs531791724	byFrequency	TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:121107168C>G	ENST00000295228.3	+	2	988	c.942C>G	c.(940-942)ctC>ctG	p.L314L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	314					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACTTCCGCCTCATCGGCTGGA	0.632																																																	0													89	85	87					2																	121107168		2203	4300	6503	SO:0001819	synonymous_variant	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.942C>G	2.37:g.121107168C>G			Q53T31|Q8N1D3	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.L314	ENST00000295228.3	37	c.942	CCDS2132.1	2																																																																																			INHBB	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu		0.632	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	C			121107168	1	no_errors	ENST00000295228	ensembl	human	known	70_37	silent	SNP	1.000	G	G	121107168	C	G	121107168	2	3	8	1	0	0	0	0	0	0	0	1	7762	813	29	1		1	INHBB	2	121107168	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	8341144	121107168	122092205	17	698										
MYO7B	4648	genome.wustl.edu	37	chr2	128380923	128380923	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctcagcgaccacctgggcttCtccctccaggtcgccgtgta	10	17	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:128380923C>T	ENST00000409816.2	+	27	3746	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	MYO7B_ENST00000409090.1_Silent_p.F91F|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Silent_p.F1238F|MYO7B_ENST00000428314.1_Silent_p.F1238F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1238	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCTGGGCTTCTCCCTCCAGG	0.642																																																	0													47	56	53					2																	128380923		2147	4235	6382	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3714C>T	2.37:g.128380923C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.F1238	ENST00000409816.2	37	c.3714	CCDS46405.1	2																																																																																			MYO7B	-	smart_Band_41_domain,pfscan_FERM_domain		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128380923	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.996	T	T	128380923	C	T	128380923	2	4	8	1	0	0	0	0	0	0	0	1	10106	912	32	1		1	MYO7B	2	128380923	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	7273755	128380923	114818450	18	699										
PRPF40A	55660	genome.wustl.edu	37	chr2	153515691	153515691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgaatggctatcatcatcatCtgaatctgacccctaaaaaa	5	10	5	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:153515691C>T	ENST00000410080.1	-	23	2963	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	835					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCATCATCATCTGAATCTGAC	0.353																																																	0													94	86	89					2																	153515691		1846	4094	5940	SO:0001583	missense	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2422G>A	2.37:g.153515691C>T	ENSP00000386458:p.Asp808Asn		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP	p.D808N	ENST00000410080.1	37	c.2422	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540493	0.85917	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.33865	1.39	5.38	5.38	0.77491	.	0.044496	0.85682	D	0.000000	T	0.31544	0.0800	L	0.34521	1.04	0.58432	D	0.999998	P;P	0.37781	0.608;0.608	B;B	0.35413	0.202;0.202	T	0.05225	-1.0898	10	0.38643	T	0.18	-26.7113	19.5019	0.95098	0.0:1.0:0.0:0.0	.	835;808	O75400;E9PFS0	PR40A_HUMAN;.	N	808;817;704;759	ENSP00000386458:D808N	ENSP00000348770:D817N	D	-	1	0	PRPF40A	153223937	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.697000	0.92050	0.563000	0.77884	GAT	PRPF40A	-	NULL		0.353	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	C	XM_371575		153515691	-1	no_errors	ENST00000410080	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153515691	C	T	153515691	3	4	8	1	0	0	0	0	1	0	0	0	12598	913	32	1	386	1	PRPF40A	2	153515691	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	25134768	153515691	89683682	19	700										
GALNT5	11227	genome.wustl.edu	37	chr2	158167780	158167780	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcttggaaggaaatttttctCaaaagatcctgaaagtagct	9	6	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:158167780C>G	ENST00000259056.4	+	10	3228	c.2743C>G	c.(2743-2745)Caa>Gaa	p.Q915E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	915	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAATTTTTCTCAAAAGATCCT	0.368																																																	0													65	73	70					2																	158167780		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2743C>G	2.37:g.158167780C>G	ENSP00000259056:p.Gln915Glu		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q915E	ENST00000259056.4	37	c.2743	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943841	0.18281	.	.	ENSG00000136542	ENST00000259056	T	0.26223	1.75	5.93	2.94	0.34122	Ricin B-related lectin (1);Ricin B lectin (3);	0.546112	0.17985	N	0.155386	T	0.23492	0.0568	L	0.41236	1.265	0.25540	N	0.987187	B	0.10296	0.003	B	0.10450	0.005	T	0.13629	-1.0502	10	0.29301	T	0.29	.	16.7264	0.85423	0.0:0.6225:0.3775:0.0	.	915	Q7Z7M9	GALT5_HUMAN	E	915	ENSP00000259056:Q915E	ENSP00000259056:Q915E	Q	+	1	0	GALNT5	157876026	0.996000	0.38824	1.000000	0.80357	0.567000	0.35839	0.466000	0.22019	0.833000	0.34828	-0.176000	0.13171	CAA	GALNT5	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.368	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	C	NM_014568		158167780	1	no_errors	ENST00000259056	ensembl	human	known	70_37	missense	SNP	0.988	G	G	158167780	C	G	158167780	3	3	8	1	0	0	0	0	1	0	0	0	6235	827	29	1	2781	1	GALNT5	2	158167780	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	4652089	158167780	85031593	20	701										
PDK1	5163	genome.wustl.edu	37	chr2	173429744	173429744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aaggcaaaggaagtccatctCatcgaaaacacattggaagc	9	9	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:173429744C>G	ENST00000282077.3	+	5	816	c.634C>G	c.(634-636)Cat>Gat	p.H212D	PDK1_ENST00000392571.2_Missense_Mutation_p.H232D|PDK1_ENST00000410055.1_Missense_Mutation_p.H212D|PDK1_ENST00000543905.1_Missense_Mutation_p.H136D|PDK1_ENST00000544863.1_Missense_Mutation_p.H57D			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	212	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AAGTCCATCTCATCGAAAACA	0.328									Autosomal Dominant Polycystic Kidney Disease																																								0													169	151	158					2																	173429744		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.634C>G	2.37:g.173429744C>G	ENSP00000282077:p.His212Asp		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Nonsense_Mutation	SNP	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N	p.S150*	ENST00000282077.3	37	c.449	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730186	0.89390	.	.	ENSG00000152256	ENST00000443353;ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991;ENST00000439519	T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	6.07	6.07	0.98685	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.083830	0.85682	D	0.000000	T	0.52158	0.1717	M	0.64567	1.98	0.80722	D	1	B;P	0.39157	0.095;0.662	P;P	0.53035	0.451;0.716	T	0.36261	-0.9755	10	0.54805	T	0.06	-15.5893	20.6439	0.99570	0.0:1.0:0.0:0.0	.	212;232	Q15118;E9PD65	PDK1_HUMAN;.	D	136;136;57;212;232;212;130;136	ENSP00000399558:H136D;ENSP00000438567:H136D;ENSP00000437502:H57D;ENSP00000282077:H212D;ENSP00000376352:H232D;ENSP00000386985:H212D;ENSP00000399160:H130D;ENSP00000388366:H136D	ENSP00000282077:H212D	H	+	1	0	PDK1	173137990	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.050000	0.71063	2.890000	0.99128	0.650000	0.86243	CAT	PDK1	-	NULL		0.328	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	HGNC	protein_coding	OTTHUMT00000255380.3	C	NM_002610		173429744	1	no_errors	ENST00000431718	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	173429744	C	G	173429744	3	3	8	1	0	0	0	0	1	0	0	0	11699	826	29	1	652	1	PDK1	2	173429744	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	15261964	173429744	69769629	21	702										
TTN	7273	genome.wustl.edu	37	chr2	179638218	179638218	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	agagattacagttggtttcaActctgccaactatcagcttg	8	9	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:179638218A>T	ENST00000591111.1	-	32	7789	c.7565T>A	c.(7564-7566)gTt>gAt	p.V2522D	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V2476D|TTN_ENST00000360870.5_Missense_Mutation_p.V2522D|TTN_ENST00000359218.5_Missense_Mutation_p.V2476D|TTN_ENST00000342992.6_Missense_Mutation_p.V2522D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V2522D|TTN_ENST00000460472.2_Missense_Mutation_p.V2476D|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12843	Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGGTTTCAACTCTGCCAAC	0.393																																																	0													131	124	127					2																	179638218		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7565T>A	2.37:g.179638218A>T	ENSP00000465570:p.Val2522Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V2522D	ENST00000591111.1	37	c.7565		2	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911790	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.82	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46229	0.1382	L	0.37800	1.135	0.48087	D	0.999585	P;P;P;P;D	0.59357	0.942;0.942;0.942;0.942;0.985	P;P;P;P;P	0.54664	0.599;0.599;0.599;0.599;0.758	T	0.45571	-0.9252	9	0.87932	D	0	.	11.7442	0.51811	0.9315:0.0:0.0685:0.0	.	2476;2476;2476;2522;2522	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2522;2476;2476;2476;2476;2522	ENSP00000343764:V2522D;ENSP00000434586:V2476D;ENSP00000340554:V2476D;ENSP00000352154:V2476D;ENSP00000354117:V2522D	ENSP00000340554:V2476D	V	-	2	0	TTN	179346463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.529000	0.60588	1.048000	0.40298	0.528000	0.53228	GTT	TTN	-	superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179638218	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179638218	A	T	179638218	3	4	8	1	0	0	0	0	1	0	0	0	16766	43	2	5	103747	5	TTN	2	179638218	Missense_Mutation	SNP	A	TCGA-C5-A1BJ-01A-11D-A13W-08	6208474	179638218	63561155	22	703										
PIKFYVE	200576	genome.wustl.edu	37	chr2	209192951	209192951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cagagactttgtgtgctcttCagcagctcttctgcccagtc	9	13	4	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:209192951C>T	ENST00000264380.4	+	21	3824	c.3666C>T	c.(3664-3666)ttC>ttT	p.F1222F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1222					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTGTGCTCTTCAGCAGCTCTT	0.473																																																	0													235	196	209					2																	209192951		2203	4300	6503	SO:0001819	synonymous_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3666C>T	2.37:g.209192951C>T			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.F1222	ENST00000264380.4	37	c.3666	CCDS2382.1	2																																																																																			PIKFYVE	-	NULL		0.473	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209192951	1	no_errors	ENST00000264380	ensembl	human	known	70_37	silent	SNP	1.000	T	T	209192951	C	T	209192951	2	4	8	1	0	0	0	0	0	0	0	1	11948	825	29	1		1	PIKFYVE	2	209192951	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	29554733	209192951	34006422	23	704										
ABCA12	26154	genome.wustl.edu	37	chr2	215876718	215876718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgttaatggaacacttctggGcagatgcatttgcttcaggg	12	7	2	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:215876718G>A	ENST00000272895.7	-	16	2317	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P382S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	700					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACACTTCTGGGCAGATGCATT	0.408																																					Ovarian(66;664 1488 5121 34295)												0													244	234	238					2																	215876718		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2098C>T	2.37:g.215876718G>A	ENSP00000272895:p.Pro700Ser		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P700S	ENST00000272895.7	37	c.2098	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580698	0.28180	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.22;-2.23	5.73	0.291	0.15732	.	0.239374	0.30011	N	0.010625	T	0.62282	0.2415	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.53528	-0.8426	10	0.05721	T	0.95	.	4.0818	0.09929	0.3873:0.1705:0.4422:0.0	.	700;382	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	700;382	ENSP00000272895:P700S;ENSP00000374312:P382S	ENSP00000272895:P700S	P	-	1	0	ABCA12	215584963	0.998000	0.40836	0.974000	0.42286	0.978000	0.69477	0.408000	0.21065	0.372000	0.24591	0.655000	0.94253	CCC	ABCA12	-	NULL		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215876718	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.952	A	A	215876718	G	A	215876718	3	1	8	1	0	0	0	0	1	0	0	0	30	1203	42	4	5841	4	ABCA12	2	215876718	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	6683767	215876718	27322655	24	705										
COL4A4	1286	genome.wustl.edu	37	chr2	227919323	227919323	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tatttacctttggcccctctCagtccccggtctccaggaag	8	15	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:227919323C>A	ENST00000396625.3	-	31	3054	c.2847G>T	c.(2845-2847)ctG>ctT	p.L949L	COL4A4_ENST00000329662.7_Silent_p.L949L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	949	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCCCCTCTCAGTCCCCGGT	0.478																																																	0													104	110	109					2																	227919323		1905	4121	6026	SO:0001819	synonymous_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2847G>T	2.37:g.227919323C>A			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L949	ENST00000396625.3	37	c.2847	CCDS42828.1	2																																																																																			COL4A4	-	pfam_Collagen		0.478	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	C	NM_000092		227919323	-1	no_errors	ENST00000396625	ensembl	human	known	70_37	silent	SNP	0.000	A	A	227919323	C	A	227919323	2	1	8	1	0	0	0	0	0	0	0	1	3698	813	29	3		3	COL4A4	2	227919323	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	12042605	227919323	15280050	25	706										
DIS3L2	129563	genome.wustl.edu	37	chr2	232952241	232952241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aaagaaacagaagctgcgtaTgaatcagatatccccgagga	10	8	1	4			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr2:232952241T>C	ENST00000409307.1	+	5	411	c.411T>C	c.(409-411)taT>taC	p.Y137Y	DIS3L2_ENST00000360410.4_Silent_p.Y137Y|DIS3L2_ENST00000325385.7_Silent_p.Y137Y|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Silent_p.Y137Y|DIS3L2_ENST00000273009.6_Silent_p.Y137Y					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAGCTGCGTATGAATCAGATA	0.413																																																	0													64	66	66					2																	232952241		1906	4134	6040	SO:0001819	synonymous_variant	129563			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.411T>C	2.37:g.232952241T>C				Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.Y137	ENST00000409307.1	37	c.411	CCDS42834.1	2																																																																																			DIS3L2	-	NULL		0.413	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	T	NM_152383		232952241	1	no_errors	ENST00000325385	ensembl	human	known	70_37	silent	SNP	0.552	C	C	232952241	T	C	232952241	2	2	8	1	0	0	0	0	0	0	0	1	4547	1471	51	5		5	DIS3L2	2	232952241	Silent	SNP	T	TCGA-C5-A1BJ-01A-11D-A13W-08	5032918	232952241	10247132	26	707										
CHCHD4	131474	genome.wustl.edu	37	chr3	14154462	14154462	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tctgcttgttctgctggcttCttctctctttcctcttcctc	5	15	6	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:14154462C>T	ENST00000396914.3	-	3	535	c.354G>A	c.(352-354)aaG>aaA	p.K118K	CHCHD4_ENST00000295767.5_Silent_p.K131K	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	118					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						ctgctggcttcttctctcttt	0.517																																																	0													106	94	98					3																	14154462		2203	4300	6503	SO:0001819	synonymous_variant	131474			BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.354G>A	3.37:g.14154462C>T			A8K3Z9|Q96AI2|Q96MY6	Silent	SNP	pfam_CHCH	p.K131	ENST00000396914.3	37	c.393	CCDS43054.1	3																																																																																			CHCHD4	-	NULL		0.517	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD4	HGNC	protein_coding	OTTHUMT00000340423.1	C	NM_144636		14154462	-1	no_errors	ENST00000295767	ensembl	human	known	70_37	silent	SNP	0.001	T	T	14154462	C	T	14154462	2	4	8	1	0	0	0	0	0	0	0	1	3323	912	32	1		1	CHCHD4	3	14154462	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		14154462	183867968	27	708										
MYRIP	25924	genome.wustl.edu	37	chr3	40192620	40192620	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tttggcagtgccaaggttctGaagaacctgtacaggaagca	12	8	1	2	rs376295541		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:40192620G>A	ENST00000302541.6	+	4	756	c.414G>A	c.(412-414)ctG>ctA	p.L138L	MYRIP_ENST00000444716.1_Silent_p.L138L|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.L138L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	138					intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCAAGGTTCTGAAGAACCTGT	0.532																																																	0													35	36	36					3																	40192620		2203	4300	6503	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.414G>A	3.37:g.40192620G>A			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.L138	ENST00000302541.6	37	c.414	CCDS2689.1	3																																																																																			MYRIP	-	NULL		0.532	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	G	NM_015460		40192620	1	no_errors	ENST00000302541	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40192620	G	A	40192620	2	1	8	1	0	0	0	0	0	0	0	1	10123	1277	45	1		1	MYRIP	3	40192620	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	26038158	40192620	157829810	28	709										
ABHD14B	84836	genome.wustl.edu	37	chr3	52003448	52003448	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	agcagtgctgggcttcactgGagcccctgcaggaagtccag	14	12	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:52003448G>A	ENST00000483233.1	-	5	1133	c.627C>T	c.(625-627)ctC>ctT	p.L209L	PCBP4_ENST00000355852.2_5'Flank|ABHD14B_ENST00000315877.10_Silent_p.L207L|PCBP4_ENST00000484633.1_5'Flank|ABHD14B_ENST00000487005.1_5'UTR|PCBP4_ENST00000428823.2_5'Flank|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000361143.5_Silent_p.L209L|ABHD14B_ENST00000525795.1_Silent_p.L209L|RP11-155D18.14_ENST00000489595.2_Intron|ABHD14B_ENST00000395008.2_Silent_p.L209L|ABHD14B_ENST00000461108.1_3'UTR|PCBP4_ENST00000461554.1_5'Flank|PCBP4_ENST00000395013.3_5'Flank			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	209					metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GGCTTCACTGGAGCCCCTGCA	0.627																																																	0													56	58	57					3																	52003448		2203	4299	6502	SO:0001819	synonymous_variant	84836			AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"Abhydrolase domain containing"	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.627C>T	3.37:g.52003448G>A			Q86VK8|Q8N8W5	Silent	SNP	NULL	p.L209	ENST00000483233.1	37	c.627	CCDS2842.1	3																																																																																			ABHD14B	-	NULL		0.627	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABHD14B	HGNC	protein_coding	OTTHUMT00000349673.1	G	NM_032750		52003448	-1	no_errors	ENST00000361143	ensembl	human	known	70_37	silent	SNP	0.071	A	A	52003448	G	A	52003448	2	1	8	1	0	0	0	0	0	0	0	1	80	1161	41	1		1	ABHD14B	3	52003448	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	11810828	52003448	146018982	29	710										
MAGI1	9223	genome.wustl.edu	37	chr3	65342183	65342183	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggtggctggctctgtcctctCtgttccttttgtccagggac	12	12	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:65342183C>G	ENST00000402939.2	-	23	4258	c.4259G>C	c.(4258-4260)aGa>aCa	p.R1420T	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1449					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGTCCTCTCTGTTCCTTTT	0.647																																																	0													123	119	120					3																	65342183		2203	4300	6503	SO:0001583	missense	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4259G>C	3.37:g.65342183C>G	ENSP00000385450:p.Arg1420Thr		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1420T	ENST00000402939.2	37	c.4259	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	C	0.348	-0.946317	0.02304	.	.	ENSG00000151276	ENST00000402939	T	0.12039	2.72	5.55	3.72	0.42706	.	0.369405	0.26711	N	0.022882	T	0.08268	0.0206	N	0.24115	0.695	0.09310	N	0.999996	B	0.19200	0.034	B	0.21708	0.036	T	0.36986	-0.9725	10	0.12766	T	0.61	-5.9254	8.4887	0.33086	0.0:0.7622:0.0:0.2378	.	1420	Q96QZ7-2	.	T	1420	ENSP00000385450:R1420T	ENSP00000385450:R1420T	R	-	2	0	MAGI1	65317223	0.166000	0.22962	0.006000	0.13384	0.090000	0.18270	0.728000	0.26013	1.304000	0.44892	0.655000	0.94253	AGA	MAGI1	-	NULL		0.647	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	C	NM_004742		65342183	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	missense	SNP	0.002	G	G	65342183	C	G	65342183	3	3	8	1	0	0	0	0	1	0	0	0	9213	913	32	1	133	1	MAGI1	3	65342183	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	13338735	65342183	132680247	30	711										
ADCY5	111	genome.wustl.edu	37	chr3	123046604	123046604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tagccttggtgatgtggatgCgtctacaggggggcagggat	18	6	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:123046604C>T	ENST00000462833.1	-	7	3020	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R253H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R236H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	603					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GATGTGGATGCGTCTACAGGG	0.557																																																	0													70	58	62					3																	123046604		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1808G>A	3.37:g.123046604C>T	ENSP00000419361:p.Arg603His		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R603H	ENST00000462833.1	37	c.1808	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.327237	0.95708	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000001	D	0.90800	0.7111	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.749;0.997	D	0.91134	0.4940	10	0.56958	D	0.05	.	19.4472	0.94852	0.0:1.0:0.0:0.0	.	603;236	O95622;B3KWA8	ADCY5_HUMAN;.	H	603;236;253;162	ENSP00000419361:R603H;ENSP00000418537:R236H;ENSP00000308685:R253H;ENSP00000420082:R162H	ENSP00000308685:R253H	R	-	2	0	ADCY5	124529294	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.747000	0.85070	2.578000	0.87016	0.655000	0.94253	CGC	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase		0.557	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	C	XM_171048		123046604	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123046604	C	T	123046604	3	4	8	1	0	0	0	0	1	0	0	0	297	768	27	2	2037	2	ADCY5	3	123046604	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	57704421	123046604	74975826	31	712										
PLXNA1	5361	genome.wustl.edu	37	chr3	126707774	126707774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cggcctgggcagtactgacaAcgtcaacaagctgctgctgc	12	13	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:126707774A>G	ENST00000393409.2	+	1	338	c.338A>G	c.(337-339)aAc>aGc	p.N113S	PLXNA1_ENST00000251772.4_Missense_Mutation_p.N90S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	113	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGTACTGACAACGTCAACAAG	0.667																																																	0													51	48	49					3																	126707774		2203	4300	6503	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.338A>G	3.37:g.126707774A>G	ENSP00000377061:p.Asn113Ser			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.N113S	ENST00000393409.2	37	c.338	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936430	0.34189	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.23552	1.9;1.9	3.56	2.34	0.29019	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.062774	0.64402	D	0.000020	T	0.53384	0.1793	M	0.90145	3.09	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.56312	-0.8000	10	0.87932	D	0	.	8.9266	0.35643	0.8334:0.0:0.0:0.1666	.	113	Q9UIW2	PLXA1_HUMAN	S	113;90	ENSP00000377061:N113S;ENSP00000251772:N90S	ENSP00000251772:N90S	N	+	2	0	PLXNA1	128190464	1.000000	0.71417	0.985000	0.45067	0.076000	0.17211	9.023000	0.93683	0.419000	0.25927	0.260000	0.18958	AAC	PLXNA1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	A	NM_032242		126707774	1	no_errors	ENST00000393409	ensembl	human	known	70_37	missense	SNP	0.999	G	G	126707774	A	G	126707774	3	3	8	1	0	0	0	0	1	0	0	0	12143	43	2	5	340	5	PLXNA1	3	126707774	Missense_Mutation	SNP	A	TCGA-C5-A1BJ-01A-11D-A13W-08	3661170	126707774	71314656	32	713										
COPG	22820	genome.wustl.edu	37	chr3	128971139	128971139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cttaggcccgtgtatttaatGaaactcccatcaaccctcgg	7	13	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:128971139G>A	ENST00000314797.6	+	3	210	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	36					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TGTATTTAATGAAACTCCCAT	0.433																																																	0													104	105	105					3																	128971139		2203	4300	6503	SO:0001583	missense	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.106G>A	3.37:g.128971139G>A	ENSP00000325002:p.Glu36Lys		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.E36K	ENST00000314797.6	37	c.106	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.254719	0.95336	.	.	ENSG00000181789	ENST00000314797	T	0.24723	1.84	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.48114	0.1482	M	0.65498	2.005	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.34925	-0.9809	10	0.33940	T	0.23	-5.3276	15.8781	0.79182	0.0:0.0:1.0:0.0	.	36	Q9Y678	COPG_HUMAN	K	36	ENSP00000325002:E36K	ENSP00000325002:E36K	E	+	1	0	COPG	130453829	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	9.481000	0.97933	2.351000	0.79841	0.460000	0.39030	GAA	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu		0.433	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	G	NM_016128		128971139	1	no_errors	ENST00000314797	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128971139	G	A	128971139	3	1	8	1	0	0	0	0	1	0	0	0	3736	1291	45	1	116	1	COPG	3	128971139	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	2263365	128971139	69051291	33	714										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:178936091G>C	ENST00000263967.3	+	10	1790	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>C	3.37:g.178936091G>C	ENSP00000263967:p.Glu545Gln		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545Q	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784998	0.90282	.	.	ENSG00000121879	ENST00000263967	T	0.63913	-0.07	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.55990	1.75	0.80722	D	1	D	0.53312	0.959	P	0.53760	0.734	T	0.69709	-0.5072	10	0.45353	T	0.12	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	Q	545	ENSP00000263967:E545Q	ENSP00000263967:E545Q	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178936091	G	C	178936091	3	2	8	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	49964952	178936091	19086339	34	715										
PIK3CA	5290	genome.wustl.edu	37	chr3	178937410	178937410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tcaaacctgaacaggctatgGaacttctggactgtaattac	8	9	2	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:178937410G>A	ENST00000263967.3	+	12	1955	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	600	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACAGGCTATGGAACTTCTGGA	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													53	50	51					3																	178937410		1812	4065	5877	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1798G>A	3.37:g.178937410G>A	ENSP00000263967:p.Glu600Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E600K	ENST00000263967.3	37	c.1798	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.595217	0.96602	.	.	ENSG00000121879	ENST00000263967	T	0.70399	-0.48	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.84773	2.715	0.80722	D	1	P	0.48834	0.916	P	0.46825	0.528	D	0.83422	0.0033	10	0.72032	D	0.01	6.8752	20.4324	0.99085	0.0:0.0:1.0:0.0	.	600	P42336	PK3CA_HUMAN	K	600	ENSP00000263967:E600K	ENSP00000263967:E600K	E	+	1	0	PIK3CA	180420104	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178937410	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178937410	G	A	178937410	3	1	8	1	0	0	0	0	1	0	0	0	11937	1175	41	1	1840	1	PIK3CA	3	178937410	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	1319	178937410	19085020	35	716										
DNAJB11	51726	genome.wustl.edu	37	chr3	186300510	186300510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atctgctctgactaggtgagCctcacgtggatggggagcct	14	10	3	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:186300510C>T	ENST00000439351.1	+	8	1617	c.688C>T	c.(688-690)Cct>Tct	p.P230S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.P230S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	230					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		ACTAGGTGAGCCTCACGTGGA	0.368																																																	0													114	103	106					3																	186300510		2202	4300	6502	SO:0001583	missense	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.688C>T	3.37:g.186300510C>T	ENSP00000414398:p.Pro230Ser		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.P230S	ENST00000439351.1	37	c.688	CCDS3277.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.102328|5.102328	0.94245|0.94245	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000418776|ENST00000439351;ENST00000265028	.|T;T	.|0.51071	.|0.72;0.72	5.93|5.93	5.93|5.93	0.95920|0.95920	.|HSP40/DnaJ peptide-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72906|0.72906	0.3519|0.3519	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	T|T	0.76000|0.76000	-0.3119|-0.3119	5|10	.|0.72032	.|D	.|0.01	-7.6718|-7.6718	17.8375|17.8375	0.88704|0.88704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|230	.|Q9UBS4	.|DJB11_HUMAN	V|S	30|230	.|ENSP00000414398:P230S;ENSP00000265028:P230S	.|ENSP00000265028:P230S	A|P	+|+	2|1	0|0	DNAJB11|DNAJB11	187783204|187783204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.800000|7.800000	0.85949|0.85949	2.821000|2.821000	0.97095|0.97095	0.555000|0.555000	0.69702|0.69702	GCC|CCT	DNAJB11	-	superfamily_HSP40/DnaJ_pept-bd		0.368	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB11	HGNC	protein_coding	OTTHUMT00000344779.1	C			186300510	1	no_errors	ENST00000265028	ensembl	human	known	70_37	missense	SNP	1.000	T	T	186300510	C	T	186300510	3	4	8	1	0	0	0	0	1	0	0	0	4626	739	26	4	714	4	DNAJB11	3	186300510	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	7363100	186300510	11721920	36	717										
LRRC15	131578	genome.wustl.edu	37	chr3	194080433	194080433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aacacacaggtacagtgtccGtccctaacctaggctggttg	10	12	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr3:194080433G>A	ENST00000347624.3	-	2	1425	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	LRRC15_ENST00000439944.2_Missense_Mutation_p.T453M|LRRC15_ENST00000428839.1_Missense_Mutation_p.T453M	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	447	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TACAGTGTCCGTCCCTAACCT	0.552																																																	0													90	77	82					3																	194080433		2203	4300	6503	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1340C>T	3.37:g.194080433G>A	ENSP00000306276:p.Thr447Met		Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T453M	ENST00000347624.3	37	c.1358	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	G	2.903	-0.227160	0.06022	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.24723	1.84;1.84;1.84	5.13	4.26	0.50523	Cysteine-rich flanking region, C-terminal (1);	0.495944	0.18443	N	0.141065	T	0.39784	0.1091	L	0.55481	1.735	0.24143	N	0.995722	D;D	0.89917	0.979;1.0	B;D	0.67231	0.431;0.95	T	0.13495	-1.0507	10	0.45353	T	0.12	.	7.165	0.25685	0.0875:0.0:0.7447:0.1678	.	447;453	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	M	447;453;453	ENSP00000306276:T447M;ENSP00000389128:T453M;ENSP00000413707:T453M	ENSP00000306276:T447M	T	-	2	0	LRRC15	195561728	0.549000	0.26481	0.466000	0.27168	0.012000	0.07955	1.933000	0.40153	1.317000	0.45149	-0.126000	0.14955	ACG	LRRC15	-	smart_Cys-rich_flank_reg_C		0.552	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	G			194080433	-1	no_errors	ENST00000439944	ensembl	human	known	70_37	missense	SNP	0.418	A	A	194080433	G	A	194080433	3	1	8	1	0	0	0	0	1	0	0	0	8993	1145	40	2	409	2	LRRC15	3	194080433	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	7779923	194080433	3941997	37	718										
EVC	2121	genome.wustl.edu	37	chr4	5800331	5800331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aggaggcgcgtgtgctggagGaggccagccggctagaggag	21	8	0	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:5800331G>C	ENST00000264956.6	+	15	2300	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Missense_Mutation_p.E706Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	706					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGTGCTGGAGGAGGCCAGCCG	0.672																																																	0													8	9	9					4																	5800331		2182	4282	6464	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2116G>C	4.37:g.5800331G>C	ENSP00000264956:p.Glu706Gln			Missense_Mutation	SNP	NULL	p.E706Q	ENST00000264956.6	37	c.2116	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442832	0.43326	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.58797	0.31;0.31	4.93	4.93	0.64822	.	0.159515	0.40222	N	0.001155	T	0.70211	0.3198	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	T	0.68334	-0.5436	10	0.29301	T	0.29	.	15.6427	0.77020	0.0:0.0:1.0:0.0	.	706	P57679	EVC_HUMAN	Q	706	ENSP00000264956:E706Q;ENSP00000372120:E706Q	ENSP00000264956:E706Q	E	+	1	0	EVC	5851232	1.000000	0.71417	0.972000	0.41901	0.090000	0.18270	3.557000	0.53741	2.274000	0.75844	0.561000	0.74099	GAG	EVC	-	NULL		0.672	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	G			5800331	1	no_errors	ENST00000264956	ensembl	human	known	70_37	missense	SNP	0.998	C	C	5800331	G	C	5800331	3	2	8	1	0	0	0	0	1	0	0	0	5297	1175	41	1	2174	1	EVC	4	5800331	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		5800331	185353945	38	719										
TADA2B	93624	genome.wustl.edu	37	chr4	7056573	7056573	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tccaggcttcgagctcctgtCagatcgcgagaaggtgctct	12	12	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:7056573C>G	ENST00000310074.7	+	2	1244	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	TADA2B_ENST00000515646.1_Nonsense_Mutation_p.S260*|TADA2B_ENST00000512388.1_Nonsense_Mutation_p.S277*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	352					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGCTCCTGTCAGATCGCGAG	0.522																																																	0													67	73	71					4																	7056573		1961	4145	6106	SO:0001587	stop_gained	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1055C>G	4.37:g.7056573C>G	ENSP00000308022:p.Ser352*		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Nonsense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S352*	ENST00000310074.7	37	c.1055	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.863921	0.99702	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.0973	18.2471	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	352;277;260	.	ENSP00000308022:S352X	S	+	2	0	TADA2B	7107474	1.000000	0.71417	0.727000	0.30756	0.335000	0.28730	7.305000	0.78891	2.307000	0.77673	0.561000	0.74099	TCA	TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2		0.522	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	C	NM_152293		7056573	1	no_errors	ENST00000310074	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	7056573	C	G	7056573	4	3	8	1	0	0	0	0	0	1	0	0	15541	838	29	1	1061	1	TADA2B	4	7056573	Nonsense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	1256242	7056573	184097703	39	720										
KIAA1211	57482	genome.wustl.edu	37	chr4	57180239	57180239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	agcaaggcggccttgagagtCggccctgcctggaccagaac	14	13	0	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:57180239C>T	ENST00000504228.1	+	6	676	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R191W|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R184W			Q6ZU35	K1211_HUMAN	KIAA1211	191										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTTGAGAGTCGGCCCTGCCT	0.537																																																	0													53	64	60					4																	57180239		2041	4193	6234	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.571C>T	4.37:g.57180239C>T	ENSP00000423366:p.Arg191Trp		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.R191W	ENST00000504228.1	37	c.571	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159480	0.21454	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12465	2.68;2.68;2.68	4.85	3.98	0.46160	.	.	.	.	.	T	0.10423	0.0255	N	0.08118	0	0.19575	N	0.999963	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.46975	0.533;0.533;0.533	T	0.15694	-1.0428	9	0.72032	D	0.01	-17.786	11.8335	0.52309	0.0:0.6599:0.3401:0.0	.	184;184;191	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	W	191;191;184;101	ENSP00000264229:R191W;ENSP00000423366:R191W;ENSP00000444006:R184W	ENSP00000264229:R191W	R	+	1	2	KIAA1211	56874996	0.004000	0.15560	0.013000	0.15412	0.016000	0.09150	0.900000	0.28431	1.130000	0.42092	0.561000	0.74099	CGG	KIAA1211	-	NULL		0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	C	NM_020722		57180239	1	no_errors	ENST00000504228	ensembl	human	known	70_37	missense	SNP	0.490	T	T	57180239	C	T	57180239	3	4	8	1	0	0	0	0	1	0	0	0	8235	875	31	1	589	1	KIAA1211	4	57180239	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	50123666	57180239	133974037	40	721										
KIAA1211	57482	genome.wustl.edu	37	chr4	57182677	57182677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gacccagagccaagtgagccGtccaaggaggaccaggagag	15	11	0	3	rs369933689		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:57182677G>A	ENST00000504228.1	+	6	3114	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P	KIAA1211_ENST00000264229.6_Silent_p.P1003P|KIAA1211_ENST00000541073.1_Silent_p.P996P			Q6ZU35	K1211_HUMAN	KIAA1211	1003	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGTGAGCCGTCCAAGGAGG	0.657																																																	0								G		0,4048		0,0,2024	30	38	35		3009	-4.3	0	4		35	1,8335		0,1,4167	no	coding-synonymous	KIAA1211	NM_020722.1		0,1,6191	AA,AG,GG		0.012,0.0,0.0081		1003/1234	57182677	1,12383	2024	4168	6192	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3009G>A	4.37:g.57182677G>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.P1003	ENST00000504228.1	37	c.3009	CCDS43230.1	4																																																																																			KIAA1211	-	NULL		0.657	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	G	NM_020722		57182677	1	no_errors	ENST00000504228	ensembl	human	known	70_37	silent	SNP	0.000	A	A	57182677	G	A	57182677	2	1	8	1	0	0	0	0	0	0	0	1	8235	1132	40	2		2	KIAA1211	4	57182677	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	2438	57182677	133971599	41	722										
UGT2A3	79799	genome.wustl.edu	37	chr4	69817035	69817035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ccacagggaatcacagggtcTataagcattacatcgtagtt	9	9	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:69817035T>C	ENST00000251566.4	-	1	474	c.444A>G	c.(442-444)atA>atG	p.I148M	UGT2A3_ENST00000420231.2_De_novo_Start_OutOfFrame	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	148					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACAGGGTCTATAAGCATTA	0.418																																																	0													74	74	74					4																	69817035		2203	4300	6503	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.444A>G	4.37:g.69817035T>C	ENSP00000251566:p.Ile148Met		Q9H6S4	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.I148M	ENST00000251566.4	37	c.444	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333217	0.41297	.	.	ENSG00000135220	ENST00000251566	T	0.62232	0.04	4.74	-0.899	0.10547	.	0.540943	0.17787	N	0.162033	T	0.58380	0.2118	L	0.33339	1.005	0.44595	D	0.99756	P	0.44776	0.843	P	0.53062	0.717	T	0.57441	-0.7811	10	0.87932	D	0	.	8.8303	0.35080	0.1363:0.0:0.5616:0.3022	.	148	Q6UWM9	UD2A3_HUMAN	M	148	ENSP00000251566:I148M	ENSP00000251566:I148M	I	-	3	3	UGT2A3	69851624	0.002000	0.14202	0.000000	0.03702	0.030000	0.12068	-0.411000	0.07142	-0.257000	0.09459	-1.423000	0.01107	ATA	UGT2A3	-	pfam_UDP_glucos_trans		0.418	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	T	NM_024743		69817035	-1	no_errors	ENST00000251566	ensembl	human	known	70_37	missense	SNP	0.022	C	C	69817035	T	C	69817035	3	2	8	1	0	0	0	0	1	0	0	0	16986	1512	53	5	1163	5	UGT2A3	4	69817035	Missense_Mutation	SNP	T	TCGA-C5-A1BJ-01A-11D-A13W-08	12634358	69817035	121337241	42	723										
SLC4A4	8671	genome.wustl.edu	37	chr4	72432749	72432749	+	Frame_Shift_Del	DEL	C	C	-													0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tcaccaacattccttgaacgCcacacatcatgctgataaaa							TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:72432749delC	ENST00000264485.5	+	25	3342	c.3225delC	c.(3223-3225)cgcfs	p.R1075fs	SLC4A4_ENST00000425175.1_Frame_Shift_Del_p.A1043fs|SLC4A4_ENST00000340595.3_Frame_Shift_Del_p.R1031fs|SLC4A4_ENST00000351898.6_Frame_Shift_Del_p.R991fs	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1075					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TCCTTGAACGCCACACATCAT	0.353																																																	0													143	131	135					4																	72432749		2203	4300	6503	SO:0001589	frameshift_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3225delC	4.37:g.72432749delC	ENSP00000264485:p.Arg1075fs		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Del	DEL	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T1044fs	ENST00000264485.5	37	c.3128	CCDS43236.1	4																																																																																			SLC4A4	-	NULL		0.353	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	C	NM_003759		72432749	1	no_errors	ENST00000425175	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	72432749	C	-	72432749	7	5	8	1	0	1	0	1	0	0	0	0	14686	739	26	0	3440	0	SLC4A4	4	72432749	Frame_Shift_Del	DEL	C	TCGA-C5-A1BJ-01A-11D-A13W-08	2615714	72432749	118721527	43	724										
PDE5A	8654	genome.wustl.edu	37	chr4	120446713	120446713	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgcattcctacctcatgtttCatctggaagttctgcacaag	7	11	4	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:120446713C>G	ENST00000354960.3	-	12	2089	c.1770G>C	c.(1768-1770)atG>atC	p.M590I	PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.M548I|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.M538I	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	590	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CCTCATGTTTCATCTGGAAGT	0.403																																																	0													101	95	97					4																	120446713		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1770G>C	4.37:g.120446713C>G	ENSP00000347046:p.Met590Ile		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.M590I	ENST00000354960.3	37	c.1770	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	4.261	0.047554	0.08243	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.40225	1.04;1.04;1.04	5.06	5.06	0.68205	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.075391	0.85682	D	0.000000	T	0.16769	0.0403	N	0.01202	-0.96	0.54753	D	0.999987	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.26883	-1.0090	10	0.02654	T	1	.	18.4311	0.90625	0.0:1.0:0.0:0.0	.	590;548	O76074;O76074-2	PDE5A_HUMAN;.	I	590;538;548	ENSP00000347046:M590I;ENSP00000377957:M538I;ENSP00000264805:M548I	ENSP00000264805:M548I	M	-	3	0	PDE5A	120666161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.943000	0.63554	2.352000	0.79861	0.655000	0.94253	ATG	PDE5A	-	NULL		0.403	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	C	NM_001083		120446713	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120446713	C	G	120446713	3	3	8	1	0	0	0	0	1	0	0	0	11668	826	29	1	897	1	PDE5A	4	120446713	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	48013964	120446713	70707563	44	725										
FBXW7	55294	genome.wustl.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr4:153247366C>G	ENST00000281708.4	-	10	2665	c.1436G>C	c.(1435-1437)cGa>cCa	p.R479P	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	47	Substitution - Missense(46)|Unknown(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)											85	80	82					4																	153247366		2203	4299	6502	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>C	4.37:g.153247366C>G	ENSP00000281708:p.Arg479Pro		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R479P	ENST00000281708.4	37	c.1436	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787466	0.90367	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.38692	1.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.58819	-0.7569	10	0.87932	D	0	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	479;361;399;303	ENSP00000281708:R479P;ENSP00000296555:R361P;ENSP00000263981:R399P;ENSP00000377528:R303P	ENSP00000263981:R399P	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153247366	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153247366	C	G	153247366	3	3	8	1	0	0	0	0	1	0	0	0	5787	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	32800653	153247366	37906910	45	726										
IRX2	153572	genome.wustl.edu	37	chr5	2749029	2749029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctcgtcgtcgtcctcgtcgtCctccaggtcgtcatacttgt	9	15	1	0	rs531740600		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr5:2749029C>T	ENST00000382611.6	-	3	1041	c.793G>A	c.(793-795)Gac>Aac	p.D265N	IRX2_ENST00000302057.5_Missense_Mutation_p.D265N|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	265					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCCTCGTCGTCCTCCAGGTCG	0.716													C|||	1	0.000199681	0	0	5008	,	,		8960	0		0.001	False		,,,				2504	0																0													18	18	18					5																	2749029		2193	4281	6474	SO:0001583	missense	153572			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.793G>A	5.37:g.2749029C>T	ENSP00000372056:p.Asp265Asn		Q68A19|Q7Z2I7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.D265N	ENST00000382611.6	37	c.793	CCDS3868.1	5	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077092	0.36662	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.66638	-0.22;-0.22;-0.13	4.81	4.81	0.61882	.	0.837151	0.11073	N	0.602676	T	0.57858	0.2082	L	0.40543	1.245	0.43559	D	0.995874	P	0.34462	0.454	B	0.29663	0.105	T	0.53380	-0.8447	10	0.15499	T	0.54	-18.1295	17.511	0.87760	0.0:1.0:0.0:0.0	.	265	Q9BZI1	IRX2_HUMAN	N	265;265;172	ENSP00000372056:D265N;ENSP00000307006:D265N;ENSP00000426151:D172N	ENSP00000307006:D265N	D	-	1	0	IRX2	2802029	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	3.897000	0.56273	2.218000	0.71995	0.563000	0.77884	GAC	IRX2	-	NULL		0.716	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX2	HGNC	protein_coding	OTTHUMT00000206749.2	C			2749029	-1	no_errors	ENST00000302057	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2749029	C	T	2749029	3	4	8	1	0	0	0	0	1	0	0	0	7864	855	30	1	630	1	IRX2	5	2749029	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		2749029	178166231	46	727										
PCDHA8	56140	genome.wustl.edu	37	chr5	140221089	140221089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gagctggcggagctggtgccGcgcctgttccgggtggcgtc	19	12	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr5:140221089G>A	ENST00000531613.1	+	1	183	c.183G>A	c.(181-183)ccG>ccA	p.P61P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P61P|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGCCTGTTCC	0.642																																																	0													38	51	47					5																	140221089		2203	4296	6499	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.183G>A	5.37:g.140221089G>A			B9EGT7|O75281	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P61	ENST00000531613.1	37	c.183	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.642	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	G	NM_018911		140221089	1	no_errors	ENST00000531613	ensembl	human	known	70_37	silent	SNP	0.088	A	A	140221089	G	A	140221089	2	1	8	1	0	0	0	0	0	0	0	1	11554	1074	38	2		2	PCDHA8	5	140221089	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	137472060	140221089	40694171	47	728										
N4BP3	23138	genome.wustl.edu	37	chr5	177547344	177547344	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gccccgggccccgggccagcCaggcccgggcacagctgctg	16	19	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr5:177547344C>G	ENST00000274605.5	+	3	855	c.496C>G	c.(496-498)Cag>Gag	p.Q166E		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	166						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGCCAGCCAGGCCCGGGC	0.706																																																	0													15	19	18					5																	177547344		2192	4278	6470	SO:0001583	missense	23138			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.496C>G	5.37:g.177547344C>G	ENSP00000274605:p.Gln166Glu		B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	pfam_Fez1	p.Q166E	ENST00000274605.5	37	c.496	CCDS34307.1	5	.	.	.	.	.	.	.	.	.	.	C	6.020	0.372111	0.11409	.	.	ENSG00000145911	ENST00000274605	T	0.00572	6.49	5.13	5.13	0.70059	.	0.779066	0.12764	N	0.441091	T	0.00468	0.0015	N	0.08118	0	0.36063	D	0.841596	B	0.02656	0.0	B	0.04013	0.001	T	0.64462	-0.6402	10	0.12766	T	0.61	-46.7787	16.1073	0.81234	0.0:1.0:0.0:0.0	.	166	O15049	N4BP3_HUMAN	E	166	ENSP00000274605:Q166E	ENSP00000274605:Q166E	Q	+	1	0	N4BP3	177479950	0.993000	0.37304	1.000000	0.80357	0.798000	0.45092	2.799000	0.47892	2.668000	0.90789	0.655000	0.94253	CAG	N4BP3	-	NULL		0.706	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP3	HGNC	protein_coding	OTTHUMT00000373552.2	C	NM_015111		177547344	1	no_errors	ENST00000274605	ensembl	human	known	70_37	missense	SNP	1.000	G	G	177547344	C	G	177547344	3	3	8	1	0	0	0	0	1	0	0	0	10136	595	21	4	502	4	N4BP3	5	177547344	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	37326255	177547344	3367916	48	729										
AGXT2L2	85007	genome.wustl.edu	37	chr5	177641849	177641849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tggtgtccttgtggcctcatCtttgatcagatccacaccaa	8	12	3	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr5:177641849C>G	ENST00000308158.5	-	10	1354	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	374						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GTGGCCTCATCTTTGATCAGA	0.537																																																	0													97	88	91					5																	177641849		2203	4300	6503	SO:0001583	missense	85007			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1120G>C	5.37:g.177641849C>G	ENSP00000310978:p.Asp374His		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.D374H	ENST00000308158.5	37	c.1120	CCDS4434.1	5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769477	0.90020	.	.	ENSG00000175309	ENST00000308158	T	0.22743	1.94	5.45	5.45	0.79879	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	M	0.85099	2.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.953	T	0.58103	-0.7695	10	0.87932	D	0	-15.1341	16.778	0.85556	0.0:1.0:0.0:0.0	.	374;374	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	H	374	ENSP00000310978:D374H	ENSP00000310978:D374H	D	-	1	0	AGXT2L2	177574455	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.577000	0.60922	2.550000	0.86006	0.561000	0.74099	GAT	AGXT2L2	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.537	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2L2	HGNC	protein_coding	OTTHUMT00000253477.1	C	NM_032921		177641849	-1	no_errors	ENST00000308158	ensembl	human	known	70_37	missense	SNP	1.000	G	G	177641849	C	G	177641849	3	3	8	1	0	0	0	0	1	0	0	0	407	913	32	1	244	1	AGXT2L2	5	177641849	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	94505	177641849	3273411	49	730										
PGBD1	84547	genome.wustl.edu	37	chr6	28269414	28269414	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aagaatcaactatgaaggtaGatgaggatcctgatcttggg	12	5	2	5			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:28269414G>C	ENST00000405948.2	+	7	2203	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	PGBD1_ENST00000259883.3_Missense_Mutation_p.D595H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	595						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TATGAAGGTAGATGAGGATCC	0.398																																																	0													128	126	127					6																	28269414		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1783G>C	6.37:g.28269414G>C	ENSP00000385213:p.Asp595His		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.D595H	ENST00000405948.2	37	c.1783	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791465	0.16258	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	2.78	0.32641	.	1.188200	0.06432	N	0.724309	T	0.04907	0.0132	N	0.21448	0.665	0.09310	N	1	B	0.26318	0.146	B	0.32762	0.152	T	0.46735	-0.9170	10	0.40728	T	0.16	-7.4637	7.4177	0.27055	0.0:0.1748:0.6147:0.2106	.	595	Q96JS3	PGBD1_HUMAN	H	595	ENSP00000385213:D595H;ENSP00000259883:D595H	ENSP00000259883:D595H	D	+	1	0	PGBD1	28377393	0.008000	0.16893	0.239000	0.24122	0.141000	0.21300	0.794000	0.26958	0.619000	0.30197	-0.274000	0.10170	GAT	PGBD1	-	NULL		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	G			28269414	1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	0.177	C	C	28269414	G	C	28269414	3	2	8	1	0	0	0	0	1	0	0	0	11804	942	33	1	1805	1	PGBD1	6	28269414	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		28269414	142845653	50	731										
C6orf136	221545	genome.wustl.edu	37	chr6	30615247	30615247	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	caggctaggggtcgcgggagCgggagggaggcgctgccggg	24	9	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:30615247C>A	ENST00000376473.5	+	1	231				C6orf136_ENST00000376471.4_Intron|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.A80E|C6orf136_ENST00000493705.1_Intron|C6orf136_ENST00000528347.2_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GTCGCGGGAGCGGGAGGGAGG	0.761																																																	0													2	3	3					6																	30615247		468	1215	1683	SO:0001627	intron_variant	221545			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.72+167C>A	6.37:g.30615247C>A			A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	pfam_DUF2358	p.A80E	ENST00000376473.5	37	c.239	CCDS43443.1	6	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590586	0.46214	.	.	ENSG00000204564	ENST00000293604;ENST00000446773	.	.	.	3.87	1.01	0.19927	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.18873	N	0.999986	P	0.41748	0.761	B	0.35240	0.198	T	0.18493	-1.0335	8	0.72032	D	0.01	.	5.6539	0.17633	0.0:0.6377:0.0:0.3623	.	80	F8VX15	.	E	80;17	.	ENSP00000293604:A80E	A	+	2	0	C6orf136	30723226	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.640000	0.02009	0.377000	0.24735	0.655000	0.94253	GCG	C6orf136	-	NULL		0.761	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf136	HGNC	protein_coding	OTTHUMT00000076457.4	C	NM_145029		30615247	1	no_errors	ENST00000293604	ensembl	human	known	70_37	missense	SNP	0.000	A	A	30615247	C	A	30615247	1	1	8	0	1	0	0	0	0	0	0	0	2336	768	27	2		2	C6orf136	6	30615247	Intron	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	2345833	30615247	140499820	51	732										
HLA-B	3106	genome.wustl.edu	37	chr6	31324496	31324496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tggttgtagtagccgcgcagGttccgcaggctctctcggtc	14	12	1	0	rs2308559|rs540530530|rs66473235	byFrequency	TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:31324496G>T	ENST00000412585.2	-	2	340	c.312C>A	c.(310-312)aaC>aaA	p.N104K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	104	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.N104K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCCGCGCAGGTTCCGCAGGC	0.692									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Substitution - Missense(1)	prostate(1)						G	LYS/ASN	14,4158		0,14,2072	44	46	46	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	312	1.4	0	6	dbSNP_123	46	57,8235		0,57,4089	no	missense	HLA-B	NM_005514.6	94	0,71,6161	TT,TG,GG		0.6874,0.3356,0.5696		104/363	31324496	71,12393	2086	4146	6232	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.312C>A	6.37:g.31324496G>T	ENSP00000399168:p.Asn104Lys		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.N104K	ENST00000412585.2	37	c.312	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.01	1.513634	0.27123	0.003356	0.006874	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00686	5.85;5.85	3.2	1.36	0.22044	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.720518	0.10376	U	0.682146	T	0.00695	0.0023	M	0.73430	2.235	0.09310	N	1	P;P;P	0.44816	0.662;0.525;0.844	B;P;P	0.49332	0.222;0.474;0.607	T	0.47535	-0.9110	10	0.46703	T	0.11	.	4.6229	0.12463	0.1304:0.226:0.6436:0.0	rs2308559;rs3180129;rs3206801;rs9264667;rs11547354	104;104;79	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	K	104;115	ENSP00000399168:N104K;ENSP00000405931:N115K	ENSP00000399168:N104K	N	-	3	2	HLA-B	31432475	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.387000	0.07361	0.201000	0.20466	0.448000	0.29417	AAC	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.692	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31324496	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31324496	G	T	31324496	3	4	8	1	0	0	0	0	1	0	0	0	7216	1252	44	4	800	4	HLA-B	6	31324496	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	709249	31324496	139790571	52	733										
COL11A2	1302	genome.wustl.edu	37	chr6	33141825	33141825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cccgaggccctgacttccccGacaggccctggtgggaatga	13	15	0	2	rs121912949		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:33141825G>A	ENST00000374708.4	-	31	2492	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L	COL11A2_ENST00000357486.1_Missense_Mutation_p.S810L|COL11A2_ENST00000374712.1_Missense_Mutation_p.S750L|COL11A2_ENST00000395197.1_Missense_Mutation_p.S771L|COL11A2_ENST00000374714.1_Missense_Mutation_p.S805L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.S724L|COL11A2_ENST00000341947.2_Missense_Mutation_p.S831L|COL11A2_ENST00000374713.1_Missense_Mutation_p.S784L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	831	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGACTTCCCCGACAGGCCCTG	0.622																																					Melanoma(1;90 116 3946 5341 17093)												0			GRCh37	CM000672	COL11A2	M	rs121912949	G	LEU/SER,LEU/SER,LEU/SER	0,3022		0,0,1511	49	51	50	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2171,2492,2234	3.7	0.8	6	dbSNP_133	50	1,5417		0,1,2708	yes	missense,missense,missense	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	145,145,145	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	possibly-damaging,possibly-damaging,possibly-damaging	724/1630,831/1737,745/1651	33141825	1,8439	1511	2709	4220	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2234C>T	6.37:g.33141825G>A	ENSP00000363840:p.Ser745Leu		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S831L	ENST00000374708.4	37	c.2492	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837328	0.50951	0.0	1.85E-4	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.55	3.68	0.42216	.	0.475051	0.20093	N	0.099382	T	0.28665	0.0710	N	0.24115	0.695	0.30483	N	0.772147	P;P;D	0.55800	0.946;0.946;0.973	P;P;B	0.49012	0.598;0.519;0.394	T	0.06006	-1.0851	10	0.31617	T	0.26	.	12.4632	0.55743	0.0:0.1698:0.8302:0.0	.	724;745;831	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	L	745;831;810;805;784;771;750;724	ENSP00000363840:S745L;ENSP00000339915:S831L;ENSP00000350079:S810L;ENSP00000363846:S805L;ENSP00000363845:S784L;ENSP00000378623:S771L;ENSP00000363844:S750L;ENSP00000355123:S724L	ENSP00000339915:S831L	S	-	2	0	COL11A2	33249803	0.639000	0.27234	0.810000	0.32431	0.826000	0.46750	3.933000	0.56545	1.135000	0.42183	0.448000	0.29417	TCG	COL11A2	-	NULL		0.622	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	G			33141825	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	0.663	A	A	33141825	G	A	33141825	3	1	8	1	0	0	0	0	1	0	0	0	3673	1059	37	1	2854	1	COL11A2	6	33141825	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	1817329	33141825	137973242	53	734										
CUL9	23113	genome.wustl.edu	37	chr6	43163948	43163948	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cagccacacgcccgggctctGagagcctgctcctcactgtc	10	18	2	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:43163948G>C	ENST00000252050.4	+	10	2614	c.2530G>C	c.(2530-2532)Gag>Cag	p.E844Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E844Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E734Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	844					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGGCTCTGAGAGCCTGCT	0.547																																																	0													69	63	65					6																	43163948		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2530G>C	6.37:g.43163948G>C	ENSP00000252050:p.Glu844Gln		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.E844Q	ENST00000252050.4	37	c.2530	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305341	0.60305	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73575	-0.76;-0.76;-0.66	4.97	4.97	0.65823	Armadillo-type fold (1);	0.718594	0.13696	N	0.369206	T	0.52629	0.1746	L	0.29908	0.895	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.43413	0.419;0.419	T	0.52230	-0.8603	10	0.62326	D	0.03	-8.406	11.3907	0.49813	0.0847:0.0:0.9153:0.0	.	844;844	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	Q	844;734;844	ENSP00000252050:E844Q;ENSP00000346490:E734Q;ENSP00000361730:E844Q	ENSP00000252050:E844Q	E	+	1	0	CUL9	43271926	0.971000	0.33674	0.971000	0.41717	0.991000	0.79684	3.977000	0.56874	2.308000	0.77769	0.563000	0.77884	GAG	CUL9	-	superfamily_ARM-type_fold		0.547	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43163948	1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	0.019	C	C	43163948	G	C	43163948	3	2	8	1	0	0	0	0	1	0	0	0	4066	1291	45	1	2564	1	CUL9	6	43163948	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	10022123	43163948	127951119	54	735										
KIAA1586	57691	genome.wustl.edu	37	chr6	56918108	56918108	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctgatattgagggggcaagaGaattacaggaaaaaaatgga	13	3	0	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:56918108G>A	ENST00000370733.4	+	4	1018	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	KIAA1586_ENST00000545356.1_Missense_Mutation_p.E244K	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	271							nucleic acid binding (GO:0003676)	p.E271*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGGCAAGAGAATTACAGGA	0.289																																																	1	Substitution - Nonsense(1)	large_intestine(1)											29	32	31					6																	56918108		2190	4286	6476	SO:0001583	missense	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.811G>A	6.37:g.56918108G>A	ENSP00000359768:p.Glu271Lys		A8K4M3|Q8IW25	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.E271K	ENST00000370733.4	37	c.811	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	g	11.45	1.643208	0.29246	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.29397	1.57;1.57	4.25	4.25	0.50352	.	.	.	.	.	T	0.13670	0.0331	N	0.08118	0	0.25614	N	0.986464	D;D	0.61697	0.99;0.99	P;P	0.54889	0.763;0.763	T	0.09314	-1.0680	9	0.27082	T	0.32	-9.8264	12.3552	0.55171	0.0:0.0:1.0:0.0	.	244;271	F5H2N6;Q9HCI6	.;K1586_HUMAN	K	271;244	ENSP00000359768:E271K;ENSP00000445507:E244K	ENSP00000359768:E271K	E	+	1	0	KIAA1586	57026067	1.000000	0.71417	0.905000	0.35620	0.497000	0.33675	2.908000	0.48750	2.359000	0.80004	0.467000	0.42956	GAA	KIAA1586	-	NULL		0.289	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	G	NM_020931		56918108	1	no_errors	ENST00000370733	ensembl	human	known	70_37	missense	SNP	0.974	A	A	56918108	G	A	56918108	3	1	8	1	0	0	0	0	1	0	0	0	8265	943	33	1	825	1	KIAA1586	6	56918108	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	13754160	56918108	114196959	55	736										
TMEM30A	55754	genome.wustl.edu	37	chr6	75974970	75974970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	caaagcactagaatctccatTtagttgactatcatctcgag	6	10	3	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:75974970T>A	ENST00000230461.6	-	3	759	c.430A>T	c.(430-432)Aat>Tat	p.N144Y	TMEM30A_ENST00000475111.2_Missense_Mutation_p.N108Y|TMEM30A_ENST00000370050.5_Missense_Mutation_p.N25Y	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	144					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCTCCATTTAGTTGACTA	0.313																																																	0													75	71	73					6																	75974970		2203	4300	6503	SO:0001583	missense	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.430A>T	6.37:g.75974970T>A	ENSP00000230461:p.Asn144Tyr		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.N144Y	ENST00000230461.6	37	c.430	CCDS4983.1	6	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481747	0.26598	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.71581	2.175	0.80722	D	1	B;B	0.30793	0.295;0.044	B;B	0.32762	0.152;0.057	T	0.53330	-0.8454	9	0.27082	T	0.32	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	108;144	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	Y	144;128;25;108;25	.	ENSP00000230461:N144Y	N	-	1	0	TMEM30A	76031690	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	6.043000	0.71004	2.299000	0.77371	0.528000	0.53228	AAT	TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.313	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	T	NM_018247		75974970	-1	no_errors	ENST00000230461	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75974970	T	A	75974970	3	1	8	1	0	0	0	0	1	0	0	0	16183	1841	64	5	675	5	TMEM30A	6	75974970	Missense_Mutation	SNP	T	TCGA-C5-A1BJ-01A-11D-A13W-08	19056862	75974970	95140097	56	737										
TTK	7272	genome.wustl.edu	37	chr6	80749569	80749569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttcccgatattccagagaaaGatcttcaagatgtgttaaag	8	7	2	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:80749569G>C	ENST00000369798.2	+	19	2398	c.2287G>C	c.(2287-2289)Gat>Cat	p.D763H	TTK_ENST00000509894.1_Missense_Mutation_p.D762H|TTK_ENST00000230510.3_Missense_Mutation_p.D762H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCAGAGAAAGATCTTCAAGA	0.274																																																	0													49	50	49					6																	80749569		2200	4285	6485	SO:0001583	missense	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2287G>C	6.37:g.80749569G>C	ENSP00000358813:p.Asp763His		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	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.D763H	ENST00000369798.2	37	c.2287	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480150	0.26598	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.66638	-0.22;-0.22;-0.22	5.66	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042947	0.85682	D	0.000000	T	0.69314	0.3097	L	0.52011	1.625	0.80722	D	1	D;D	0.69078	0.966;0.997	P;D	0.67382	0.726;0.951	T	0.72090	-0.4395	10	0.48119	T	0.1	.	15.1139	0.72384	0.0:0.0:0.8574:0.1426	.	763;762	P33981;A8K8U5	TTK_HUMAN;.	H	762;762;763	ENSP00000422936:D762H;ENSP00000230510:D762H;ENSP00000358813:D763H	ENSP00000230510:D762H	D	+	1	0	TTK	80806288	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	9.467000	0.97671	1.366000	0.46076	0.585000	0.79938	GAT	TTK	-	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		0.274	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	G			80749569	1	no_errors	ENST00000369798	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80749569	G	C	80749569	3	2	8	1	0	0	0	0	1	0	0	0	16751	942	33	1	2357	1	TTK	6	80749569	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	4774599	80749569	90365498	57	738										
MAP3K4	4216	genome.wustl.edu	37	chr6	161512528	161512528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aatctgtcaccttgcaacagTactaccgagaagcaatgatt	7	10	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr6:161512528T>C	ENST00000392142.4	+	12	3239	c.3091T>C	c.(3091-3093)Tac>Cac	p.Y1031H	MAP3K4_ENST00000348824.7_Missense_Mutation_p.Y1031H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Y1031H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Y1031H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1031					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTTGCAACAGTACTACCGAGA	0.403																																																	0													224	207	213					6																	161512528		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3091T>C	6.37:g.161512528T>C	ENSP00000375986:p.Tyr1031His		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.Y1031H	ENST00000392142.4	37	c.3091	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243992	0.79912	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71341	-0.56;-0.55;-0.54;-0.56	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.75932	0.3917	L	0.57536	1.79	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;0.993;1.0;1.0	D;P;D;D	0.91635	0.996;0.791;0.999;0.998	T	0.73839	-0.3856	10	0.29301	T	0.29	-24.3539	15.8087	0.78538	0.0:0.0:0.0:1.0	.	1031;21;1031;1031	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	H	1031	ENSP00000355886:Y1031H;ENSP00000375986:Y1031H;ENSP00000355887:Y1031H;ENSP00000297332:Y1031H	ENSP00000297332:Y1031H	Y	+	1	0	MAP3K4	161432518	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.578000	0.82498	2.191000	0.70037	0.528000	0.53228	TAC	MAP3K4	-	NULL		0.403	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	T			161512528	1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	C	C	161512528	T	C	161512528	3	2	8	1	0	0	0	0	1	0	0	0	9275	1638	57	5	3137	5	MAP3K4	6	161512528	Missense_Mutation	SNP	T	TCGA-C5-A1BJ-01A-11D-A13W-08	80762959	161512528	9602539	58	739										
CYP2W1	54905	genome.wustl.edu	37	chr7	1022953	1022953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cccggtggcccccggggcctCgcccgctgccgctcgtcggg	16	20	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:1022953C>T	ENST00000308919.7	+	1	119	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	CYP2W1_ENST00000340150.6_5'Flank	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	36					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCCGGGGCCTCGCCCGCTGCC	0.716																																																	0													9	9	9					7																	1022953		1956	3832	5788	SO:0001583	missense	54905			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.106C>T	7.37:g.1022953C>T	ENSP00000310149:p.Arg36Cys			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R36C	ENST00000308919.7	37	c.106	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	C	6.155	0.396849	0.11638	.	.	ENSG00000073067	ENST00000308919	T	0.80033	-1.33	4.52	-3.17	0.05202	.	0.702565	0.13949	N	0.351671	T	0.71230	0.3315	M	0.68728	2.09	0.09310	N	0.999995	B	0.25390	0.125	B	0.27608	0.081	T	0.62501	-0.6841	10	0.59425	D	0.04	.	1.7784	0.03026	0.2868:0.3859:0.0909:0.2364	.	36	Q8TAV3	CP2W1_HUMAN	C	36	ENSP00000310149:R36C	ENSP00000310149:R36C	R	+	1	0	CYP2W1	989479	0.000000	0.05858	0.154000	0.22540	0.269000	0.26545	-0.567000	0.05916	-0.328000	0.08539	-0.813000	0.03139	CGC	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.716	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	C	NM_017781		1022953	1	no_errors	ENST00000308919	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1022953	C	T	1022953	3	4	8	1	0	0	0	0	1	0	0	0	4181	884	31	1	108	1	CYP2W1	7	1022953	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		1022953	158115710	59	740										
RSPH10B	728194	genome.wustl.edu	37	chr7	6825630	6825630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcagctacatttatggaggtCatagcagaggataatcgttt	11	6	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:6825630C>T	ENST00000403107.1	+	15	2196	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	RSPH10B2_ENST00000359718.3_3'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V603V|RSPH10B2_ENST00000404077.1_Silent_p.V603V|RSPH10B2_ENST00000463354.2_3'UTR|RSPH10B2_ENST00000297186.3_Silent_p.V603V			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	603										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TTATGGAGGTCATAGCAGAGG	0.338																																																	0													23	25	25					7																	6825630		2138	4222	6360	SO:0001819	synonymous_variant	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.1809C>T	7.37:g.6825630C>T			A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	pfam_MORN,smart_MORN	p.V603	ENST00000403107.1	37	c.1809	CCDS43552.1	7																																																																																			RSPH10B2	-	NULL		0.338	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	C	NM_001099697		6825630	1	no_errors	ENST00000297186	ensembl	human	known	70_37	silent	SNP	0.950	T	T	6825630	C	T	6825630	2	4	8	1	0	0	0	0	0	0	0	1	13733	813	29	1		1	RSPH10B	7	6825630	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	5802677	6825630	152313033	60	741										
THAP5	168451	genome.wustl.edu	37	chr7	108205264	108205264	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aaaaccacctctacctgtatCttggttaactgatgtttcca	5	11	2	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:108205264C>T	ENST00000415914.3	-	3	712	c.559G>A	c.(559-561)Gat>Aat	p.D187N	THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.D145N	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	187					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						CTACCTGTATCTTGGTTAACT	0.323																																																	0													58	56	56					7																	108205264		2202	4300	6502	SO:0001583	missense	168451			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.559G>A	7.37:g.108205264C>T	ENSP00000400500:p.Asp187Asn			Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.D187N	ENST00000415914.3	37	c.559	CCDS47687.1	7	.	.	.	.	.	.	.	.	.	.	C	2.767	-0.256569	0.05829	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96716	-4.1;-2.61	4.5	3.6	0.41247	.	1.016640	0.07920	N	0.975812	D	0.92001	0.7466	N	0.20986	0.625	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.81951	-0.0698	9	.	.	.	.	10.5353	0.45000	0.0:0.831:0.0:0.169	.	187	Q7Z6K1	THAP5_HUMAN	N	187;145	ENSP00000400500:D187N;ENSP00000322440:D145N	.	D	-	1	0	THAP5	107992500	0.007000	0.16637	0.919000	0.36401	0.316000	0.28119	-0.024000	0.12435	0.996000	0.38943	0.650000	0.86243	GAT	THAP5	-	NULL		0.323	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	HGNC	protein_coding	OTTHUMT00000337777.2	C	NM_182529		108205264	-1	no_errors	ENST00000415914	ensembl	human	known	70_37	missense	SNP	0.986	T	T	108205264	C	T	108205264	3	4	8	1	0	0	0	0	1	0	0	0	15877	913	32	1	632	1	THAP5	7	108205264	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	101379634	108205264	50933399	61	742										
OPN1SW	611	genome.wustl.edu	37	chr7	128414648	128414648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aggaaccacgtataggactcGctgcggtatttggtgcccac	12	11	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:128414648G>A	ENST00000249389.2	-	3	590	c.591C>T	c.(589-591)agC>agT	p.S197S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	197					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TATAGGACTCGCTGCGGTATT	0.552																																																	0													141	115	124					7																	128414648		2203	4300	6503	SO:0001819	synonymous_variant	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.591C>T	7.37:g.128414648G>A			Q13877	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.S197	ENST00000249389.2	37	c.591	CCDS5806.1	7																																																																																			OPN1SW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	G	NM_001708		128414648	-1	no_errors	ENST00000249389	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128414648	G	A	128414648	2	1	8	1	0	0	0	0	0	0	0	1	10904	1078	38	2		2	OPN1SW	7	128414648	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	20209384	128414648	30724015	62	743										
ARHGEF5	7984	genome.wustl.edu	37	chr7	144060156	144060156	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gggcctgccccattcagagtGagcatctagacatggcccca	11	14	2	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:144060156G>C	ENST00000056217.5	+	2	568	c.394G>C	c.(394-396)Gag>Cag	p.E132Q		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	132					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CATTCAGAGTGAGCATCTAGA	0.557																																																	0													5	5	5					7																	144060156		1026	2268	3294	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.394G>C	7.37:g.144060156G>C	ENSP00000056217:p.Glu132Gln		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E132Q	ENST00000056217.5	37	c.394	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388715	0.25118	.	.	ENSG00000050327	ENST00000056217	T	0.78816	-1.21	3.99	0.985	0.19779	.	0.878260	0.09189	U	0.836395	T	0.62853	0.2462	L	0.29908	0.895	0.09310	N	1	B	0.26512	0.151	B	0.28139	0.086	T	0.49153	-0.8969	9	.	.	.	.	4.3261	0.11041	0.2233:0.1897:0.5871:0.0	.	132	Q12774	ARHG5_HUMAN	Q	132	ENSP00000056217:E132Q	.	E	+	1	0	ARHGEF5	143691089	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.106000	0.10890	0.338000	0.23692	0.650000	0.86243	GAG	ARHGEF5	-	NULL		0.557	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	G	NM_005435		144060156	1	no_errors	ENST00000056217	ensembl	human	known	70_37	missense	SNP	0.001	C	C	144060156	G	C	144060156	3	2	8	1	0	0	0	0	1	0	0	0	909	1291	45	1	396	1	ARHGEF5	7	144060156	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	15645508	144060156	15078507	63	744										
ATP6V0E2	155066	genome.wustl.edu	37	chr7	149571220	149571220	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttctggggcctcgtcggcatCgccgggccctggttcgtgcc	15	15	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:149571220C>T	ENST00000425642.2	+	1	89	c.66C>T	c.(64-66)atC>atT	p.I22I	ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000456496.2_Silent_p.I71I|ATP6V0E2_ENST00000606024.1_Silent_p.I22I|ATP6V0E2_ENST00000421974.2_Silent_p.I71I|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000464662.1_Silent_p.I22I|ATP6V0E2_ENST00000479613.1_Silent_p.I22I			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	22					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCGTCGGCATCGCCGGGCCCT	0.716																																																	0													5	8	7					7																	149571220		1543	3134	4677	SO:0001819	synonymous_variant	155066			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.66C>T	7.37:g.149571220C>T			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	pfam_ATPase_V0-cplx_esu	p.I71	ENST00000425642.2	37	c.213		7																																																																																			ATP6V0E2	-	pfam_ATPase_V0-cplx_esu		0.716	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	C	NM_145230		149571220	1	no_errors	ENST00000421974	ensembl	human	known	70_37	silent	SNP	1.000	T	T	149571220	C	T	149571220	2	4	8	1	0	0	0	0	0	0	0	1	1177	874	31	1		1	ATP6V0E2	7	149571220	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	5511064	149571220	9567443	64	745										
MLL3	58508	genome.wustl.edu	37	chr7	151856085	151856085	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcttcgctgtttcttggtttCacttcctccatctgtttttg	7	11	3	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr7:151856085C>T	ENST00000262189.6	-	44	11751	c.11533G>A	c.(11533-11535)Gaa>Aaa	p.E3845K	KMT2C_ENST00000355193.2_Missense_Mutation_p.E3845K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3845					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCTTGGTTTCACTTCCTCCA	0.443																																																	0													216	193	201					7																	151856085		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11533G>A	7.37:g.151856085C>T	ENSP00000262189:p.Glu3845Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E3845K	ENST00000262189.6	37	c.11533	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252293	0.80135	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89196	-1.75;-1.76;-2.48	5.56	5.56	0.83823	.	0.000000	0.44483	U	0.000450	D	0.92548	0.7633	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.80764	0.985;0.994;0.994	D	0.90256	0.4297	10	0.30078	T	0.28	.	19.8892	0.96923	0.0:1.0:0.0:0.0	.	3845;2906;3845	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	K	3845;3845;431	ENSP00000262189:E3845K;ENSP00000347325:E3845K;ENSP00000410411:E431K	ENSP00000262189:E3845K	E	-	1	0	MLL3	151487018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.072000	0.64389	2.777000	0.95525	0.591000	0.81541	GAA	MLL3	-	NULL		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151856085	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151856085	C	T	151856085	3	4	8	1	0	0	0	0	1	0	0	0	9645	835	29	1	3266	1	MLL3	7	151856085	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	2284865	151856085	7282578	65	746										
CDCA2	157313	genome.wustl.edu	37	chr8	25325882	25325882	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gtctccagatattcaatattGatacagacagagcatgtgca	8	8	2	4			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr8:25325882G>C	ENST00000330560.3	+	6	1165	c.688G>C	c.(688-690)Gat>Cat	p.D230H	CDCA2_ENST00000380665.3_Missense_Mutation_p.D215H	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	230					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATTCAATATTGATACAGACAG	0.388																																																	0													119	122	121					8																	25325882		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.688G>C	8.37:g.25325882G>C	ENSP00000328228:p.Asp230His		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.D230H	ENST00000330560.3	37	c.688	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689545	0.29962	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.35048	1.34;1.33	5.33	1.5	0.22942	.	1.524520	0.03560	N	0.226873	T	0.29190	0.0726	N	0.12182	0.205	0.09310	N	1	P;D;D	0.55385	0.799;0.971;0.971	P;P;P	0.50378	0.639;0.639;0.639	T	0.11179	-1.0598	10	0.46703	T	0.11	-0.0449	3.6197	0.08090	0.2739:0.0:0.5516:0.1745	.	230;215;230	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	H	230;215	ENSP00000328228:D230H;ENSP00000370040:D215H	ENSP00000328228:D230H	D	+	1	0	CDCA2	25381799	0.001000	0.12720	0.001000	0.08648	0.092000	0.18411	0.967000	0.29344	0.098000	0.17522	0.650000	0.86243	GAT	CDCA2	-	NULL		0.388	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	G	NM_152562		25325882	1	no_errors	ENST00000330560	ensembl	human	known	70_37	missense	SNP	0.001	C	C	25325882	G	C	25325882	3	2	8	1	0	0	0	0	1	0	0	0	3091	1290	45	1	706	1	CDCA2	8	25325882	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		25325882	121038140	66	747										
PPAPDC1B	84513	genome.wustl.edu	37	chr8	38124784	38124784	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gagtccatatgatattcataCaggaagaatgtccactgggg	11	7	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr8:38124784C>T	ENST00000424479.2	-	5	484		c.e5+1		PPAPDC1B_ENST00000531823.1_Splice_Site|PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000529359.1_Splice_Site|PPAPDC1B_ENST00000422581.2_Splice_Site|PPAPDC1B_ENST00000419686.2_Missense_Mutation_p.C155Y	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B						phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GATATTCATACAGGAAGAATG	0.443																																																	0													99	94	96					8																	38124784		1914	4118	6032	SO:0001630	splice_region_variant	84513			AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.463+1G>A	8.37:g.38124784C>T			C9JKF5|Q3KQX6|Q9BY45	Splice_Site	SNP	-	e5+1	ENST00000424479.2	37	c.463+1	CCDS47841.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589351|3.589351	0.66105|0.66105	.|.	.|.	ENSG00000147535|ENSG00000147535	ENST00000529359;ENST00000424479;ENST00000524616;ENST00000531823;ENST00000534339;ENST00000422581|ENST00000419686	.|T	.|0.74315	.|-0.83	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72120	.|0.3421	N|N	0.04260|0.04260	-0.245|-0.245	0.43321|0.43321	D|D	0.995341|0.995341	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.75814	.|-0.3185	.|9	.|0.32370	.|T	.|0.25	.|.	17.2215|17.2215	0.86958|0.86958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|155	.|C9JKF5	.|.	.|Y	-1|155	.|ENSP00000414522:C155Y	.|ENSP00000414522:C155Y	.|C	-|-	.|2	.|0	PPAPDC1B|PPAPDC1B	38243941|38243941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.728000|0.728000	0.41692|0.41692	7.597000|7.597000	0.82733|0.82733	2.475000|2.475000	0.83589|0.83589	0.557000|0.557000	0.71058|0.71058	.|TGT	PPAPDC1B	-	-		0.443	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC1B	HGNC	protein_coding	OTTHUMT00000381832.2	C	NM_032483	Intron	38124784	-1	no_errors	ENST00000424479	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	38124784	C	T	38124784	5	4	8	1	0	0	0	0	0	0	1	0	12318	492	17	4	431	4	PPAPDC1B	8	38124784	Splice_Site	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	12798902	38124784	108239238	67	748										
ZMAT4	79698	genome.wustl.edu	37	chr8	40532227	40532227	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gaagagctgcccttacctctCagttcccccatatccagggt	8	15	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr8:40532227C>T	ENST00000297737.6	-	5	719	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	191						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCTTACCTCTCAGTTCCCCCA	0.448																																																	0													116	109	111					8																	40532227		2203	4300	6503	SO:0001819	synonymous_variant	79698			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.573G>A	8.37:g.40532227C>T			Q8WUT8	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.L191	ENST00000297737.6	37	c.573	CCDS34885.1	8																																																																																			ZMAT4	-	NULL		0.448	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	C	NM_024645		40532227	-1	no_errors	ENST00000297737	ensembl	human	known	70_37	silent	SNP	0.885	T	T	40532227	C	T	40532227	2	4	8	1	0	0	0	0	0	0	0	1	17724	813	29	1		1	ZMAT4	8	40532227	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	2407443	40532227	105831795	68	749										
RUNX1T1	862	genome.wustl.edu	37	chr8	93004062	93004062	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgggctaatagtgcatggtcGcttgcttggatgttctgagt	14	6	1	1	rs200629809		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr8:93004062G>A	ENST00000523629.1	-	7	1250	c.796C>T	c.(796-798)Cga>Tga	p.R266*	RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R239*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R239*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R229*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R266*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R229*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R229*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R277*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	266					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGCATGGTCGCTTGCTTGGA	0.488																																																	0													168	140	150					8																	93004062		2203	4300	6503	SO:0001587	stop_gained	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.796C>T	8.37:g.93004062G>A	ENSP00000428543:p.Arg266*		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.R277*	ENST00000523629.1	37	c.829	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.505842	0.96371	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7919	20.2159	0.98296	0.0:0.0:1.0:0.0	.	.	.	.	X	266;239;266;229;229;229;277;239	.	ENSP00000265814:R266X	R	-	1	2	RUNX1T1	93073238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.256000	0.58810	2.882000	0.98803	0.655000	0.94253	CGA	RUNX1T1	-	NULL		0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93004062	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	93004062	G	A	93004062	4	1	8	1	0	0	0	0	0	1	0	0	13777	1095	38	2	1042	2	RUNX1T1	8	93004062	Nonsense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	52471835	93004062	53359960	69	750										
POU5F1B	5462	genome.wustl.edu	37	chr8	128429025	128429025	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggctgctgggtctcctttctCagggggaccagtgtcctttc	13	12	2	0	rs533552619	byFrequency	TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr8:128429025C>T	ENST00000465342.2	+	2	2071	c.914C>T	c.(913-915)tCa>tTa	p.S305L	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.S305L|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TCTCCTTTCTCAGGGGGACCA	0.587																																																	0													10	10	10					8																	128429025		692	1589	2281	SO:0001583	missense	5462			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.914C>T	8.37:g.128429025C>T	ENSP00000419298:p.Ser305Leu		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S305L	ENST00000465342.2	37	c.914	CCDS55274.1	8	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535102	0.27475	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.79454	-1.27;-1.27	0.935	0.935	0.19483	.	1.072340	0.07295	N	0.873150	T	0.68091	0.2963	L	0.36672	1.1	0.30720	N	0.748306	B	0.20671	0.047	B	0.19148	0.024	T	0.64550	-0.6381	10	0.66056	D	0.02	.	7.8741	0.29584	0.0:1.0:0.0:0.0	.	305	Q06416	P5F1B_HUMAN	L	305	ENSP00000419298:S305L;ENSP00000375557:S305L	ENSP00000375557:S305L	S	+	2	0	POU5F1B	128498207	0.981000	0.34729	0.513000	0.27749	0.360000	0.29518	0.690000	0.25451	0.852000	0.35287	0.121000	0.15741	TCA	POU5F1B	-	NULL		0.587	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	C	NM_001159542		128429025	1	no_errors	ENST00000391675	ensembl	human	known	70_37	missense	SNP	0.966	T	T	128429025	C	T	128429025	3	4	8	1	0	0	0	0	1	0	0	0	12306	838	29	1	916	1	POU5F1B	8	128429025	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	35424963	128429025	17934997	70	751										
TG	7038	genome.wustl.edu	37	chr8	134030178	134030178	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atgctgccccgcccctggcaGagaggcgcttccaggcacca	12	17	0	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr8:134030178G>C	ENST00000220616.4	+	38	6758	c.6718G>C	c.(6718-6720)Gag>Cag	p.E2240Q	TG_ENST00000519543.1_Missense_Mutation_p.E373Q|TG_ENST00000542445.1_Missense_Mutation_p.E610Q|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.E2183Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2240					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCCCTGGCAGAGAGGCGCTT	0.607																																																	0													47	45	46					8																	134030178		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6718G>C	8.37:g.134030178G>C	ENSP00000220616:p.Glu2240Gln		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E2240Q	ENST00000220616.4	37	c.6718	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.105562|2.105562	0.37145|0.37145	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.69561|.	-0.41;-0.41;-0.41;-0.41|.	5.38|5.38	4.48|4.48	0.54585|0.54585	Carboxylesterase, type B (1);|.	0.359217|.	0.28042|.	N|.	0.016828|.	T|T	0.45377|0.45377	0.1339|0.1339	L|L	0.49350|0.49350	1.555|1.555	0.09310|0.09310	N|N	1|1	B;B;B|.	0.26935|.	0.134;0.164;0.164|.	B;B;B|.	0.30029|.	0.11;0.067;0.11|.	T|T	0.28650|0.28650	-1.0037|-1.0037	10|5	0.45353|.	T|.	0.12|.	.|.	11.1629|11.1629	0.48526|0.48526	0.0:0.2:0.8:0.0|0.0:0.2:0.8:0.0	.|.	373;610;2240|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	Q|T	2183;1046;2240;610;373|695	ENSP00000367100:E2183Q;ENSP00000220616:E2240Q;ENSP00000441693:E610Q;ENSP00000430430:E373Q|.	ENSP00000220616:E2240Q|.	E|R	+|+	1|2	0|0	TG|TG	134099360|134099360	1.000000|1.000000	0.71417|0.71417	0.151000|0.151000	0.22473|0.22473	0.948000|0.948000	0.59901|0.59901	2.474000|2.474000	0.45154|0.45154	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	GAG|AGA	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin		0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		134030178	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.214	C	C	134030178	G	C	134030178	3	2	8	1	0	0	0	0	1	0	0	0	15843	943	33	1	6868	1	TG	8	134030178	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	5601153	134030178	12333844	71	752										
ACO1	48	genome.wustl.edu	37	chr9	32419137	32419137	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgatggggaagccccaccctCtggtaacatccactgacatc	9	14	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr9:32419137C>G	ENST00000309951.6	+	7	898	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	ACO1_ENST00000541043.1_Missense_Mutation_p.L155V|ACO1_ENST00000379923.1_Missense_Mutation_p.L254V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	254					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCCCCACCCTCTGGTAACATC	0.507																																																	0													174	132	146					9																	32419137		2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.760C>G	9.37:g.32419137C>G	ENSP00000309477:p.Leu254Val		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.L254V	ENST00000309951.6	37	c.760	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	C	10.95	1.497080	0.26861	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.41758	0.99;0.99;0.99	5.64	5.64	0.86602	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.181581	0.49305	D	0.000145	T	0.47544	0.1451	M	0.64997	1.995	0.54753	D	0.999985	B;B	0.29627	0.252;0.021	B;B	0.33454	0.164;0.055	T	0.47394	-0.9121	10	0.62326	D	0.03	-4.5375	18.4726	0.90779	0.0:1.0:0.0:0.0	.	290;254	Q59FI0;P21399	.;ACOC_HUMAN	V	290;254;254;254;155	ENSP00000309477:L254V;ENSP00000369255:L254V;ENSP00000438733:L155V	ENSP00000309477:L254V	L	+	1	2	ACO1	32409137	0.938000	0.31826	1.000000	0.80357	0.977000	0.68977	1.847000	0.39299	2.637000	0.89404	0.563000	0.77884	CTG	ACO1	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2		0.507	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	C	NM_002197		32419137	1	no_errors	ENST00000309951	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32419137	C	G	32419137	3	3	8	1	0	0	0	0	1	0	0	0	146	912	32	1	782	1	ACO1	9	32419137	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		32419137	108794294	72	753										
ZNF79	7633	genome.wustl.edu	37	chr9	130207191	130207191	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttcagccagagtaccaatctCataatccaccaaaagaccca	4	14	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr9:130207191C>T	ENST00000342483.5	+	5	1618	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	RPL12_ENST00000497322.1_5'Flank|ZNF79_ENST00000543471.1_Silent_p.L380L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GTACCAATCTCATAATCCACC	0.488																																																	0													65	65	65					9																	130207191		2203	4300	6503	SO:0001819	synonymous_variant	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1212C>T	9.37:g.130207191C>T			Q5VVW1|Q96NV1	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L404	ENST00000342483.5	37	c.1212	CCDS6871.1	9																																																																																			ZNF79	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	C	NM_007135		130207191	1	no_errors	ENST00000342483	ensembl	human	known	70_37	silent	SNP	0.288	T	T	130207191	C	T	130207191	2	4	8	1	0	0	0	0	0	0	0	1	18191	813	29	1		1	ZNF79	9	130207191	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	97788054	130207191	11006240	73	754										
GLE1	2733	genome.wustl.edu	37	chr9	131271285	131271285	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gccatcctctacgtcagcttCagccctagatcaaccctcat	5	17	5	1	rs201042972		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr9:131271285C>G	ENST00000309971.4	+	2	336	c.230C>G	c.(229-231)tCa>tGa	p.S77*	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Nonsense_Mutation_p.S77*	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	77					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						ACGTCAGCTTCAGCCCTAGAT	0.512																																																	0													211	172	185					9																	131271285		2203	4300	6503	SO:0001587	stop_gained	2733			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.230C>G	9.37:g.131271285C>G	ENSP00000308622:p.Ser77*		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Nonsense_Mutation	SNP	pfam_GLE1	p.S77*	ENST00000309971.4	37	c.230	CCDS35154.1	9	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108848	0.77096	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	.	.	.	5.48	3.65	0.41850	.	0.593113	0.17664	N	0.166213	.	.	.	.	.	.	0.24698	N	0.993272	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-4.2368	9.4857	0.38928	0.0:0.8348:0.0:0.1652	.	.	.	.	X	77	.	ENSP00000308622:S77X	S	+	2	0	GLE1	130311106	0.021000	0.18746	0.009000	0.14445	0.152000	0.21847	2.131000	0.42074	0.696000	0.31696	0.462000	0.41574	TCA	GLE1	-	NULL		0.512	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1	C	NM_001003722		131271285	1	no_errors	ENST00000309971	ensembl	human	known	70_37	nonsense	SNP	0.021	G	G	131271285	C	G	131271285	4	3	8	1	0	0	0	0	0	1	0	0	6454	838	29	1	236	1	GLE1	9	131271285	Nonsense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	1064094	131271285	9942146	74	755										
DBH	1621	genome.wustl.edu	37	chr9	136523568	136523568	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cattggtgggggcaaaggctGaggggggacctactcctccc	16	11	0	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr9:136523568G>A	ENST00000393056.2	+	12	1865	c.1853G>A	c.(1852-1854)tGa>tAa	p.*618*	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	0					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGCAAAGGCTGAGGGGGGACC	0.652																																																	0													26	27	27					9																	136523568		2203	4299	6502	SO:0001819	synonymous_variant	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1853G>A	9.37:g.136523568G>A			Q5T381|Q96AG2	Silent	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.*618	ENST00000393056.2	37	c.1853	CCDS6977.2	9																																																																																			DBH	-	NULL		0.652	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	G	NM_000787		136523568	1	no_errors	ENST00000393056	ensembl	human	known	70_37	silent	SNP	0.000	A	A	136523568	G	A	136523568	2	1	8	1	0	0	0	0	0	0	0	1	4255	1285	45	1		1	DBH	9	136523568	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	5252283	136523568	4689863	75	756										
CUBN	8029	genome.wustl.edu	37	chr10	16967746	16967746	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgggggacgtgatgatccctCtgtctgcatgcaaatatcca	11	10	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr10:16967746C>G	ENST00000377833.4	-	42	6364	c.6299G>C	c.(6298-6300)aGa>aCa	p.R2100T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2100	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATGATCCCTCTGTCTGCATG	0.463																																																	0													85	71	76					10																	16967746		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6299G>C	10.37:g.16967746C>G	ENSP00000367064:p.Arg2100Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.R2100T	ENST00000377833.4	37	c.6299	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004897	0.54254	.	.	ENSG00000107611	ENST00000377833	T	0.16743	2.32	5.65	4.75	0.60458	CUB (5);	0.000000	0.44688	D	0.000423	T	0.18002	0.0432	N	0.25957	0.775	0.80722	D	1	P	0.49635	0.926	P	0.51895	0.683	T	0.02728	-1.1118	10	0.08837	T	0.75	.	14.4857	0.67616	0.0:0.9296:0.0:0.0704	.	2100	O60494	CUBN_HUMAN	T	2100	ENSP00000367064:R2100T	ENSP00000367064:R2100T	R	-	2	0	CUBN	17007752	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	5.748000	0.68697	1.400000	0.46741	0.655000	0.94253	AGA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16967746	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16967746	C	G	16967746	3	3	8	1	0	0	0	0	1	0	0	0	4056	913	32	1	4676	1	CUBN	10	16967746	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		16967746	118567001	76	757										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24909044	24909044	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctgaaaatttctgtttgactGcaatgtttttagatctggtg	9	5	2	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr10:24909044G>A	ENST00000396432.2	-	9	2266	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.Q381*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	593					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTTTGACTGCAATGTTTTT	0.423																																																	0													80	78	79					10																	24909044		2203	4300	6503	SO:0001587	stop_gained	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1780C>T	10.37:g.24909044G>A	ENSP00000379709:p.Gln594*		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.Q594*	ENST00000396432.2	37	c.1780	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	37	5.990646	0.97179	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.5	5.5	0.81552	.	0.361215	0.26951	N	0.021679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.7622	0.96325	0.0:0.0:1.0:0.0	.	.	.	.	X	594;381;584;594;429	.	ENSP00000365604:Q381X	Q	-	1	0	ARHGAP21	24949050	0.971000	0.33674	0.009000	0.14445	0.008000	0.06430	5.054000	0.64275	2.732000	0.93576	0.650000	0.86243	CAG	ARHGAP21	-	NULL		0.423	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	G	NM_020824		24909044	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	nonsense	SNP	0.051	A	A	24909044	G	A	24909044	4	1	8	1	0	0	0	0	0	1	0	0	871	1328	46	4	4168	4	ARHGAP21	10	24909044	Nonsense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	7941298	24909044	110625703	77	758										
C10orf57	80195	genome.wustl.edu	37	chr10	81850650	81850650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ccatcttgattgcttacaaaCggaagcgccaaaaacaaact	6	11	1	1	rs144946848		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr10:81850650C>T	ENST00000372281.3	+	4	379	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372275.1_3'UTR|TMEM254_ENST00000372274.1_3'UTR	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	117						integral component of membrane (GO:0016021)											TGCTTACAAACGGAAGCGCCA	0.443																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	144	132	136		349	1.1	0.1	10	dbSNP_134	136	0,8600		0,0,4300	no	missense	C10orf57	NM_025125.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	117/124	81850650	1,13005	2203	4300	6503	SO:0001583	missense	80195			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.349C>T	10.37:g.81850650C>T	ENSP00000361355:p.Arg117Trp		D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Missense_Mutation	SNP	NULL	p.R117W	ENST00000372281.3	37	c.349	CCDS7363.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.680|4.680	0.126374|0.126374	0.08931|0.08931	2.27E-4|2.27E-4	0.0|0.0	ENSG00000133678|ENSG00000133678	ENST00000372281|ENST00000450179	.|.	.|.	.|.	4.07|4.07	1.07|1.07	0.20283|0.20283	.|.	0.246618|.	0.48767|.	D|.	0.000162|.	T|T	0.30479|0.30479	0.0766|0.0766	L|L	0.34521|0.34521	1.04|1.04	0.23689|0.23689	N|N	0.997106|0.997106	D;D|.	0.62365|.	0.979;0.991|.	P;B|.	0.49226|.	0.603;0.409|.	T|T	0.23868|0.23868	-1.0176|-1.0176	9|5	0.87932|.	D|.	0|.	-24.1416|-24.1416	5.1222|5.1222	0.14865|0.14865	0.0:0.6262:0.1709:0.2029|0.0:0.6262:0.1709:0.2029	.|.	141;117|.	E7ERB9;Q8TBM7|.	.;CJ057_HUMAN|.	W|M	117|94	.|.	ENSP00000361355:R117W|.	R|T	+|+	1|2	2|0	C10orf57|C10orf57	81840630|81840630	0.023000|0.023000	0.18921|0.18921	0.086000|0.086000	0.20670|0.20670	0.012000|0.012000	0.07955|0.07955	0.636000|0.636000	0.24644|0.24644	0.107000|0.107000	0.17824|0.17824	-1.019000|-1.019000	0.02448|0.02448	CGG|ACG	TMEM254	-	NULL		0.443	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1	C	NM_025125		81850650	1	no_errors	ENST00000372281	ensembl	human	known	70_37	missense	SNP	0.354	T	T	81850650	C	T	81850650	3	4	8	1	0	0	0	0	1	0	0	0	1613	527	19	2	363	2	C10orf57	10	81850650	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	56941606	81850650	53684097	78	759										
PGAM1	5223	genome.wustl.edu	37	chr10	99190814	99190814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tctggaatgaagaaatagttCcccagatcaaggaggggaaa	12	6	2	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr10:99190814C>T	ENST00000334828.5	+	3	665	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	173					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		AGAAATAGTTCCCCAGATCAA	0.507																																																	0													56	57	56					10																	99190814		2202	4281	6483	SO:0001583	missense	5223			BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"Phosphoglycerate mutase A, nonmuscle form"	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.517C>T	10.37:g.99190814C>T	ENSP00000359991:p.Pro173Ser		Q9BWC0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.P173S	ENST00000334828.5	37	c.517	CCDS7458.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.234333	0.95207	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80304	-1.36	4.92	4.92	0.64577	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.91543	0.7329	M	0.91090	3.175	0.80722	D	1	D;D	0.60160	0.987;0.987	P;D	0.66196	0.888;0.942	D	0.93493	0.6837	10	0.87932	D	0	-28.0927	18.4685	0.90765	0.0:1.0:0.0:0.0	.	158;173	B4DKL5;P18669	.;PGAM1_HUMAN	S	173;63	ENSP00000359991:P173S	ENSP00000359991:P173S	P	+	1	0	PGAM1	99180804	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.713000	0.84693	2.438000	0.82558	0.561000	0.74099	CCC	PGAM1	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1		0.507	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM1	HGNC	protein_coding	OTTHUMT00000049652.1	C	NM_002629		99190814	1	no_errors	ENST00000334828	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99190814	C	T	99190814	3	4	8	1	0	0	0	0	1	0	0	0	11797	855	30	1	527	1	PGAM1	10	99190814	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	17340164	99190814	36343933	79	760										
DMBT1	1755	genome.wustl.edu	37	chr10	124377810	124377810	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgcccccacaatggctggctCtcccacaactgtggccatca	8	17	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr10:124377810C>G	ENST00000338354.3	+	38	4888	c.4782C>G	c.(4780-4782)ctC>ctG	p.L1594L	DMBT1_ENST00000368909.3_Silent_p.L1594L|DMBT1_ENST00000344338.3_Silent_p.L1584L|DMBT1_ENST00000368956.2_Silent_p.L966L|DMBT1_ENST00000330163.4_Silent_p.L966L|DMBT1_ENST00000359586.6_Silent_p.L445L|DMBT1_ENST00000368955.3_Silent_p.L1584L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1594	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.L1723L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGGCTGGCTCTCCCACAACT	0.557																																					Ovarian(182;93 2026 18125 22222 38972)												1	Substitution - coding silent(1)	ovary(1)											82	81	81					10																	124377810		1922	4144	6066	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4782C>G	10.37:g.124377810C>G			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.L1723	ENST00000338354.3	37	c.5169		10																																																																																			DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124377810	1	no_errors	ENST00000368915	ensembl	human	known	70_37	silent	SNP	0.002	G	G	124377810	C	G	124377810	2	3	8	1	0	0	0	0	0	0	0	1	4587	900	32	1		1	DMBT1	10	124377810	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	25186996	124377810	11156937	80	761										
SLC1A2	6506	genome.wustl.edu	37	chr11	35308464	35308464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atcaatccccagattttcttCcaggcaacgaaaggtgacag	8	11	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr11:35308464C>G	ENST00000278379.3	-	8	1408	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	SLC1A2_ENST00000606205.1_Missense_Mutation_p.E376Q|SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000395753.1_Missense_Mutation_p.E367Q|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395750.1_Missense_Mutation_p.E367Q	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	376					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			AGATTTTCTTCCAGGCAACGA	0.463																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0													155	149	151					11																	35308464		2202	4298	6500	SO:0001583	missense	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1126G>C	11.37:g.35308464C>G	ENSP00000278379:p.Glu376Gln		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.E376Q	ENST00000278379.3	37	c.1126	CCDS31459.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.889942|4.889942	0.91889|0.91889	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.61980|.	0.06;0.06;0.06|.	5.62|5.62	4.71|4.71	0.59529|0.59529	.|.	0.086454|.	0.85682|.	D|.	0.000000|.	T|T	0.72669|0.72669	0.3489|0.3489	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.995;0.999|.	T|T	0.73269|0.73269	-0.4036|-0.4036	10|5	0.72032|.	D|.	0.01|.	-18.6683|-18.6683	14.8568|14.8568	0.70344|0.70344	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	376;376|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	Q|C	376;367;367|93	ENSP00000278379:E376Q;ENSP00000379099:E367Q;ENSP00000379102:E367Q|.	ENSP00000278379:E376Q|.	E|W	-|-	1|3	0|0	SLC1A2|SLC1A2	35265040|35265040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.776000|7.776000	0.85560|0.85560	1.517000|1.517000	0.48917|0.48917	0.561000|0.561000	0.74099|0.74099	GAA|TGG	SLC1A2	-	pfam_Na-dicarboxylate_symporter		0.463	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	C	NM_004171		35308464	-1	no_errors	ENST00000278379	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35308464	C	G	35308464	3	3	8	1	0	0	0	0	1	0	0	0	14462	864	30	1	614	1	SLC1A2	11	35308464	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		35308464	99698052	81	762										
OR5L2	26338	genome.wustl.edu	37	chr11	55595315	55595315	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctggtggccactttgaatgaGagtgttaccatcatgatcat	10	8	2	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr11:55595315G>C	ENST00000378397.1	+	1	621	c.621G>C	c.(619-621)gaG>gaC	p.E207D		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E207D(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTGAATGAGAGTGTTACCA	0.473										HNSCC(27;0.073)																																							1	Substitution - Missense(1)	lung(1)											241	200	214					11																	55595315		2200	4294	6494	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.621G>C	11.37:g.55595315G>C	ENSP00000367650:p.Glu207Asp		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E207D	ENST00000378397.1	37	c.621	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	4.273	0.049739	0.08243	.	.	ENSG00000205030	ENST00000378397	T	0.36699	1.24	5.24	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.30572	0.0769	L	0.58583	1.82	0.09310	N	1	B	0.12630	0.006	B	0.26416	0.069	T	0.28364	-1.0046	10	0.13108	T	0.6	-23.005	7.3218	0.26531	0.1582:0.1398:0.7021:0.0	.	207	Q8NGL0	OR5L2_HUMAN	D	207	ENSP00000367650:E207D	ENSP00000367650:E207D	E	+	3	2	OR5L2	55351891	0.000000	0.05858	0.606000	0.28943	0.019000	0.09904	-0.413000	0.07123	0.718000	0.32166	0.632000	0.83419	GAG	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	G	NM_001004739		55595315	1	no_errors	ENST00000378397	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55595315	G	C	55595315	3	2	8	1	0	0	0	0	1	0	0	0	11195	933	33	1	623	1	OR5L2	11	55595315	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	20286851	55595315	79411201	82	763										
DNAJC4	3338	genome.wustl.edu	37	chr11	64000216	64000216	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cacagtactggtcccagtttCacagcgtgaggccacagggg	13	12	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr11:64000216C>T	ENST00000321685.3	+	5	871	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	DNAJC4_ENST00000321460.5_Missense_Mutation_p.H137Y|DNAJC4_ENST00000355040.4_Intron|VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	136					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTCCCAGTTTCACAGCGTGAG	0.592																																																	0													46	50	49					11																	64000216		2039	4200	6239	SO:0001583	missense	3338			AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.406C>T	11.37:g.64000216C>T	ENSP00000396896:p.His136Tyr		O14716	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.H136Y	ENST00000321685.3	37	c.406	CCDS41666.1	11	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070530	0.55539	.	.	ENSG00000110011	ENST00000321685;ENST00000321460	T;T	0.23552	1.91;1.9	5.09	5.09	0.68999	.	0.283269	0.33040	N	0.005348	T	0.32793	0.0841	L	0.46157	1.445	0.38107	D	0.937455	D;D	0.61697	0.99;0.985	P;P	0.55508	0.731;0.777	T	0.05886	-1.0858	10	0.08179	T	0.78	-4.9934	14.3632	0.66787	0.0:1.0:0.0:0.0	.	137;136	Q6PIN0;Q9NNZ3	.;DNJC4_HUMAN	Y	136;137	ENSP00000396896:H136Y;ENSP00000320548:H137Y	ENSP00000320548:H137Y	H	+	1	0	DNAJC4	63756792	0.980000	0.34600	0.891000	0.34965	0.060000	0.15804	2.885000	0.48570	2.515000	0.84797	0.563000	0.77884	CAC	DNAJC4	-	NULL		0.592	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC4	HGNC	protein_coding	OTTHUMT00000396305.1	C			64000216	1	no_errors	ENST00000321685	ensembl	human	known	70_37	missense	SNP	0.984	T	T	64000216	C	T	64000216	3	4	8	1	0	0	0	0	1	0	0	0	4659	826	29	1	420	1	DNAJC4	11	64000216	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	8404901	64000216	71006300	83	764										
MMP27	64066	genome.wustl.edu	37	chr11	102563730	102563730	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggaaagtgttttaccactctCtgcgggaaccctttgtccat	9	11	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr11:102563730C>T	ENST00000260229.4	-	9	1327	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	412					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TTACCACTCTCTGCGGGAACC	0.433																																																	0													206	193	197					11																	102563730		2203	4299	6502	SO:0001819	synonymous_variant	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1236G>A	11.37:g.102563730C>T			Q6UWK6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.Q412	ENST00000260229.4	37	c.1236	CCDS8319.1	11																																																																																			MMP27	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.433	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	HGNC	protein_coding	OTTHUMT00000398128.1	C	NM_022122		102563730	-1	no_errors	ENST00000260229	ensembl	human	known	70_37	silent	SNP	0.003	T	T	102563730	C	T	102563730	2	4	8	1	0	0	0	0	0	0	0	1	9687	912	32	1		1	MMP27	11	102563730	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	38563514	102563730	32442786	84	765										
OR8D1	283159	genome.wustl.edu	37	chr11	124180213	124180213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aaggcagagagaaagcccaaGaagaaggcagccagcactag	13	9	0	4			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr11:124180213G>C	ENST00000357821.2	-	1	520	c.450C>G	c.(448-450)ttC>ttG	p.F150L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAAAGCCCAAGAAGAAGGCAG	0.468																																																	0													73	64	67					11																	124180213		2201	4299	6500	SO:0001583	missense	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.450C>G	11.37:g.124180213G>C	ENSP00000350474:p.Phe150Leu		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F150L	ENST00000357821.2	37	c.450	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	g	4.551	0.102251	0.08731	.	.	ENSG00000196341	ENST00000357821	T	0.32023	1.47	4.29	-4.97	0.03029	GPCR, rhodopsin-like superfamily (1);	2.930740	0.03520	U	0.220828	T	0.07683	0.0193	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	10	0.08179	T	0.78	.	8.0261	0.30438	0.2154:0.4226:0.362:0.0	.	150	Q8WZ84	OR8D1_HUMAN	L	150	ENSP00000350474:F150L	ENSP00000350474:F150L	F	-	3	2	OR8D1	123685423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.599000	0.02085	-0.502000	0.06596	-0.429000	0.05907	TTC	OR8D1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.468	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	G	NM_001002917		124180213	-1	no_errors	ENST00000357821	ensembl	human	known	70_37	missense	SNP	0.000	C	C	124180213	G	C	124180213	3	2	8	1	0	0	0	0	1	0	0	0	11255	933	33	1	479	1	OR8D1	11	124180213	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	21616483	124180213	10826303	85	766										
CLSTN3	9746	genome.wustl.edu	37	chr12	7301578	7301578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tcttacataggtgcttcagcGaagagtcctgcgtctccatc	9	12	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr12:7301578G>A	ENST00000266546.6	+	13	2308	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E632K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	620					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTGCTTCAGCGAAGAGTCCTG	0.577																																																	0													78	60	66					12																	7301578		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1858G>A	12.37:g.7301578G>A	ENSP00000266546:p.Glu620Lys		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E620K	ENST00000266546.6	37	c.1858	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324301	0.60634	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.33654	1.4;1.4	5.56	5.56	0.83823	.	0.107864	0.64402	D	0.000009	T	0.42854	0.1221	M	0.72353	2.195	0.80722	D	1	P;P	0.40476	0.569;0.718	B;B	0.37480	0.054;0.251	T	0.46911	-0.9157	10	0.54805	T	0.06	-16.4427	19.5349	0.95247	0.0:0.0:1.0:0.0	.	632;620	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	620;632	ENSP00000266546:E620K;ENSP00000440679:E632K	ENSP00000266546:E620K	E	+	1	0	CLSTN3	7192845	1.000000	0.71417	0.940000	0.37924	0.216000	0.24613	9.869000	0.99810	2.618000	0.88619	0.561000	0.74099	GAA	CLSTN3	-	NULL		0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	G	NM_014718		7301578	1	no_errors	ENST00000266546	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7301578	G	A	7301578	3	1	8	1	0	0	0	0	1	0	0	0	3568	1059	37	1	1908	1	CLSTN3	12	7301578	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		7301578	126550317	86	767										
PKP2	5318	genome.wustl.edu	37	chr12	32975436	32975436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcttcgactgccaaaacatcCaatacttttgttgttgtcag	7	10	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr12:32975436C>G	ENST00000070846.6	-	9	1960	c.1936G>C	c.(1936-1938)Gga>Cga	p.G646R	PKP2_ENST00000340811.4_Missense_Mutation_p.G602R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	646					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAAAACATCCAATACTTTTG	0.403																																																	0													130	122	125					12																	32975436		2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1936G>C	12.37:g.32975436C>G	ENSP00000070846:p.Gly646Arg		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G646R	ENST00000070846.6	37	c.1936	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107215	0.77096	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.47177	0.85;0.85	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.85777	2.775	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.78086	-0.2341	10	0.87932	D	0	-0.1402	16.6153	0.84909	0.0:1.0:0.0:0.0	.	602;602;646	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	R	602;646;646	ENSP00000342800:G602R;ENSP00000070846:G646R	ENSP00000070846:G646R	G	-	1	0	PKP2	32866703	0.998000	0.40836	0.996000	0.52242	0.835000	0.47333	4.233000	0.58651	2.328000	0.79073	0.563000	0.77884	GGA	PKP2	-	superfamily_ARM-type_fold		0.403	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	C	NM_004572		32975436	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32975436	C	G	32975436	3	3	8	1	0	0	0	0	1	0	0	0	12009	603	21	4	733	4	PKP2	12	32975436	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	25673858	32975436	100876459	87	768										
SCN8A	6334	genome.wustl.edu	37	chr12	52180553	52180553	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aatacagagatcagatggaaGaacgtgaagatcaactttga	10	5	2	6			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr12:52180553G>A	ENST00000354534.6	+	22	4348	c.4170G>A	c.(4168-4170)aaG>aaA	p.K1390K	SCN8A_ENST00000545061.1_Silent_p.K1349K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1390					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.K1390N(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCAGATGGAAGAACGTGAAGA	0.358																																																	2	Substitution - Missense(2)	lung(2)											80	81	81					12																	52180553		1888	4107	5995	SO:0001819	synonymous_variant	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4170G>A	12.37:g.52180553G>A			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K1390	ENST00000354534.6	37	c.4170	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Ion_trans_dom		0.358	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52180553	1	no_errors	ENST00000354534	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52180553	G	A	52180553	2	1	8	1	0	0	0	0	0	0	0	1	13954	933	33	1		1	SCN8A	12	52180553	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	19205117	52180553	81671342	88	769										
MON2	23041	genome.wustl.edu	37	chr12	62974171	62974171	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gacaatgcttaacaagggctCaatacattctcagtcatctt	6	10	4	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr12:62974171C>T	ENST00000393632.2	+	32	5061	c.4670C>T	c.(4669-4671)tCa>tTa	p.S1557L	MON2_ENST00000552738.1_Missense_Mutation_p.S1528L|MON2_ENST00000393629.2_Missense_Mutation_p.S1551L|MON2_ENST00000546600.1_Missense_Mutation_p.S1557L|MON2_ENST00000280379.6_Missense_Mutation_p.S1558L|MON2_ENST00000393630.3_Missense_Mutation_p.S1558L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1557					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACAAGGGCTCAATACATTCT	0.289																																																	0													90	89	89					12																	62974171		2203	4297	6500	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4670C>T	12.37:g.62974171C>T	ENSP00000377252:p.Ser1557Leu		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.S1558L	ENST00000393632.2	37	c.4673	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.476837	0.96291	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.69806	0.37;0.37;-0.42;-0.43;0.37;0.37	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.998;0.998;0.989;0.999	T	0.79045	-0.1964	9	.	.	.	-14.0522	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1551;1528;1557;426;1557	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	L	1557;1558;1558;1557;1528;1551	ENSP00000377252:S1557L;ENSP00000377250:S1558L;ENSP00000280379:S1558L;ENSP00000447407:S1557L;ENSP00000449215:S1528L;ENSP00000377249:S1551L	.	S	+	2	0	MON2	61260438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	TCA	MON2	-	NULL		0.289	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	C	NM_015026		62974171	1	no_errors	ENST00000393630	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62974171	C	T	62974171	3	4	8	1	0	0	0	0	1	0	0	0	9723	838	29	1	4796	1	MON2	12	62974171	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	10793618	62974171	70877724	89	770										
DAO	1610	genome.wustl.edu	37	chr12	109293228	109293228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggctagaaagagaacagcttCgcactggaccttcaaacaca	9	11	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr12:109293228C>T	ENST00000228476.3	+	10	1093	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	DAO_ENST00000551281.1_Missense_Mutation_p.R231C	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	297					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AGAACAGCTTCGCACTGGACC	0.498																																																	0													52	43	46					12																	109293228		2203	4300	6503	SO:0001583	missense	1610			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.889C>T	12.37:g.109293228C>T	ENSP00000228476:p.Arg297Cys		B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.R297C	ENST00000228476.3	37	c.889	CCDS9122.1	12	.	.	.	.	.	.	.	.	.	.	c	11.20	1.569733	0.28003	.	.	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.44482	0.92;0.92	5.03	-0.582	0.11709	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	1.153850	0.05914	N	0.632335	T	0.37865	0.1019	M	0.71581	2.175	0.09310	N	1	B;B	0.18310	0.004;0.027	B;B	0.10450	0.003;0.005	T	0.42548	-0.9445	10	0.56958	D	0.05	-18.4822	1.1976	0.01878	0.1362:0.3563:0.2451:0.2624	.	297;280	P14920;Q7Z312	OXDA_HUMAN;.	C	231;297	ENSP00000446853:R231C;ENSP00000228476:R297C	ENSP00000228476:R297C	R	+	1	0	DAO	107817357	0.000000	0.05858	0.024000	0.17045	0.047000	0.14425	-0.339000	0.07832	0.149000	0.19098	-0.321000	0.08615	CGC	DAO	-	pfam_FAD-dep_OxRdtase		0.498	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAO	HGNC	protein_coding	OTTHUMT00000403682.1	C			109293228	1	no_errors	ENST00000228476	ensembl	human	known	70_37	missense	SNP	0.001	T	T	109293228	C	T	109293228	3	4	8	1	0	0	0	0	1	0	0	0	4236	884	31	1	923	1	DAO	12	109293228	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	46319057	109293228	24558667	90	771										
DZIP1	22873	genome.wustl.edu	37	chr13	96274674	96274674	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttctttaaactcgtgtgcatCttttaatgtgcctatgttgg	8	7	2	0	rs200658829		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr13:96274674C>G	ENST00000376829.2	-	9	1884	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H	DZIP1_ENST00000361156.3_Missense_Mutation_p.D345H|DZIP1_ENST00000361396.2_Missense_Mutation_p.D345H|DZIP1_ENST00000347108.3_Missense_Mutation_p.D345H	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	345					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCGTGTGCATCTTTTAATGTG	0.408																																																	0													297	260	272					13																	96274674		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1033G>C	13.37:g.96274674C>G	ENSP00000366025:p.Asp345His		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D345H	ENST00000376829.2	37	c.1033	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832231	0.71258	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.01	5.01	0.66863	.	0.297364	0.34750	N	0.003707	T	0.69993	0.3173	M	0.77103	2.36	0.42806	D	0.99394	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74097	-0.3775	10	0.62326	D	0.03	-24.4374	16.9002	0.86110	0.0:1.0:0.0:0.0	.	345;345	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	H	345	ENSP00000257312:D345H;ENSP00000355018:D345H;ENSP00000355175:D345H;ENSP00000366025:D345H	ENSP00000257312:D345H	D	-	1	0	DZIP1	95072675	1.000000	0.71417	0.238000	0.24106	0.956000	0.61745	5.270000	0.65547	2.484000	0.83849	0.655000	0.94253	GAT	DZIP1	-	NULL		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	C	NM_014934		96274674	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	missense	SNP	0.981	G	G	96274674	C	G	96274674	3	3	8	1	0	0	0	0	1	0	0	0	4873	913	32	1	1630	1	DZIP1	13	96274674	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		96274674	18895204	91	772										
MYH6	4624	genome.wustl.edu	37	chr14	23871733	23871733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctgcttgaacttcatgttccCgtagtgcatgatggctcccg	10	12	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr14:23871733C>T	ENST00000356287.3	-	11	1110	c.1081G>A	c.(1081-1083)Ggg>Agg	p.G361R	MYH6_ENST00000405093.3_Missense_Mutation_p.G361R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	361	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCATGTTCCCGTAGTGCATG	0.607																																																	0													119	110	113					14																	23871733		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1081G>A	14.37:g.23871733C>T	ENSP00000348634:p.Gly361Arg		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G361R	ENST00000356287.3	37	c.1081	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	25.1	4.602208	0.87055	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.98701	-5.08;-5.08	3.82	3.82	0.43975	Myosin head, motor domain (2);	.	.	.	.	D	0.99612	0.9859	H	0.99980	5.19	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.65443	0.935;0.935	D	0.96931	0.9681	9	0.87932	D	0	.	15.063	0.71970	0.0:1.0:0.0:0.0	.	361;361	D9YZU2;P13533	.;MYH6_HUMAN	R	361	ENSP00000386041:G361R;ENSP00000348634:G361R	ENSP00000348634:G361R	G	-	1	0	MYH6	22941573	1.000000	0.71417	0.562000	0.28370	0.955000	0.61496	7.490000	0.81461	1.864000	0.54056	0.305000	0.20034	GGG	MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23871733	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	0.998	T	T	23871733	C	T	23871733	3	4	8	1	0	0	0	0	1	0	0	0	10061	652	23	2	4850	2	MYH6	14	23871733	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		23871733	83477807	92	773										
ARHGAP5	394	genome.wustl.edu	37	chr14	32615493	32615493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atgtaccgaaggactctaccGtgtcagcgggaataaaactg	11	9	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr14:32615493G>T	ENST00000345122.3	+	4	4205	c.3890G>T	c.(3889-3891)cGt>cTt	p.R1297L	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R1296L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R1296L|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.R32L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R1297L|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.R36L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1297	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			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)		GGACTCTACCGTGTCAGCGGG	0.353																																					NSCLC(9;77 350 3443 29227 41353)												0													104	103	104					14																	32615493		2203	4300	6503	SO:0001583	missense	394			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.3890G>T	14.37:g.32615493G>T	ENSP00000371897:p.Arg1297Leu		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.R1297L	ENST00000345122.3	37	c.3890	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.167049	0.94768	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.28	5.28	0.74379	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.90420	0.4416	10	0.87932	D	0	.	19.2809	0.94052	0.0:0.0:1.0:0.0	.	32;1296;1297	Q13017-3;Q13017-2;Q13017	.;.;RHG05_HUMAN	L	1296;1297;32;1297;1296;36;36	ENSP00000452222:R1296L;ENSP00000441692:R1297L;ENSP00000379827:R32L;ENSP00000371897:R1297L;ENSP00000393307:R1296L;ENSP00000407395:R36L;ENSP00000451061:R36L	ENSP00000371897:R1297L	R	+	2	0	ARHGAP5	31685244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.230000	0.95299	2.624000	0.88883	0.585000	0.79938	CGT	ARHGAP5	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.353	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	G	NM_001030055		32615493	1	no_errors	ENST00000345122	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32615493	G	T	32615493	3	4	8	1	0	0	0	0	1	0	0	0	886	1145	40	2	3900	2	ARHGAP5	14	32615493	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	8743760	32615493	74734047	93	774										
AKAP6	9472	genome.wustl.edu	37	chr14	33290861	33290861	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctcaaatattactgccccctCtagtccacacatttaccagg	4	15	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr14:33290861C>G	ENST00000280979.4	+	13	4012	c.3842C>G	c.(3841-3843)tCt>tGt	p.S1281C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1281					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACTGCCCCCTCTAGTCCACAC	0.468																																					Melanoma(49;821 1200 7288 13647 42351)												0													77	64	68					14																	33290861		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3842C>G	14.37:g.33290861C>G	ENSP00000280979:p.Ser1281Cys		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1281C	ENST00000280979.4	37	c.3842	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328898	0.24167	.	.	ENSG00000151320	ENST00000280979	T	0.05996	3.36	6.03	5.12	0.69794	.	0.150830	0.45606	D	0.000344	T	0.10380	0.0254	L	0.57536	1.79	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.02484	-1.1152	10	0.87932	D	0	-3.2379	15.5203	0.75859	0.0:0.8625:0.1375:0.0	.	1281	Q13023	AKAP6_HUMAN	C	1281	ENSP00000280979:S1281C	ENSP00000280979:S1281C	S	+	2	0	AKAP6	32360612	0.941000	0.31946	0.998000	0.56505	0.631000	0.37964	5.350000	0.66016	1.518000	0.48934	0.655000	0.94253	TCT	AKAP6	-	NULL		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33290861	1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	0.993	G	G	33290861	C	G	33290861	3	3	8	1	0	0	0	0	1	0	0	0	455	913	32	1	3888	1	AKAP6	14	33290861	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	675368	33290861	74058679	94	775										
ZFP36L1	677	genome.wustl.edu	37	chr14	69256314	69256314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ttgagttgtccaaggtcgggGagtctgagccactgtggctg	16	8	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr14:69256314G>A	ENST00000439696.2	-	2	1254	c.953C>T	c.(952-954)tCc>tTc	p.S318F	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.S318F|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	318					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAAGGTCGGGGAGTCTGAGCC	0.597											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	95	94					14																	69256314		2203	4300	6503	SO:0001583	missense	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.953C>T	14.37:g.69256314G>A	ENSP00000388402:p.Ser318Phe	1113	Q13851	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.S318F	ENST00000439696.2	37	c.953	CCDS9791.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563932	0.86335	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.49720	0.77;0.77	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74444	-0.3663	10	0.87932	D	0	-1.3851	17.7433	0.88413	0.0:0.0:1.0:0.0	.	318	Q07352	TISB_HUMAN	F	318;318;301	ENSP00000388402:S318F;ENSP00000337386:S318F	ENSP00000337386:S318F	S	-	2	0	ZFP36L1	68326067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.525000	0.98039	2.413000	0.81919	0.591000	0.81541	TCC	ZFP36L1	-	NULL		0.597	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	G			69256314	-1	no_errors	ENST00000336440	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69256314	G	A	69256314	3	1	8	1	0	0	0	0	1	0	0	0	17676	1174	41	1	67	1	ZFP36L1	14	69256314	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	35965453	69256314	38093226	95	776										
ZFP36L1	677	genome.wustl.edu	37	chr14	69256775	69256775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggcccgtaggggcaaaagccGatggtgtggaaggtgcggca	19	8	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr14:69256775G>A	ENST00000439696.2	-	2	793	c.492C>T	c.(490-492)atC>atT	p.I164I	ZFP36L1_ENST00000336440.3_Silent_p.I164I|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	164					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGCAAAAGCCGATGGTGTGGA	0.687											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	55	54					14																	69256775		2203	4300	6503	SO:0001819	synonymous_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.492C>T	14.37:g.69256775G>A		1113	Q13851	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.I164	ENST00000439696.2	37	c.492	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Znf_CCCH,smart_Znf_CCCH		0.687	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	G			69256775	-1	no_errors	ENST00000336440	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69256775	G	A	69256775	2	1	8	1	0	0	0	0	0	0	0	1	17676	1048	37	1		1	ZFP36L1	14	69256775	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	461	69256775	38092765	96	777										
SNURF	8926	genome.wustl.edu	37	chr15	25213164	25213164	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tgaggcaggcattcttagctGagacaccaagaggtggttaa	13	7	1	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr15:25213164G>A	ENST00000577949.1	+	3	259	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.E66K|SNURF_ENST00000338094.6_Missense_Mutation_p.E66K|SNRPN_ENST00000577565.1_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.E66K|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000346403.6_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	66						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		ATTCTTAGCTGAGACACCAAG	0.473																																																	0													114	102	106					15																	25213164		2203	4300	6503	SO:0001583	missense	8926				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.196G>A	15.37:g.25213164G>A	ENSP00000463201:p.Glu66Lys		A6NCW2	Missense_Mutation	SNP	pfam_SNURF	p.E66K	ENST00000577949.1	37	c.196	CCDS10016.1	15	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899828	0.52227	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.52	2.59	0.31030	.	.	.	.	.	T	0.60392	0.2265	.	.	.	0.27524	N	0.951314	P	0.51057	0.941	P	0.60415	0.874	T	0.51426	-0.8707	7	0.87932	D	0	-10.0321	8.9311	0.35670	0.0:0.2281:0.7719:0.0	.	66	Q9Y675	SNURF_HUMAN	K	66	.	ENSP00000336543:E66K	E	+	1	0	SNURF	22764257	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.955000	0.49121	1.028000	0.39785	-0.176000	0.13171	GAG	SNURF	-	pfam_SNURF		0.473	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SNURF	HGNC	protein_coding	OTTHUMT00000446300.1	G	NM_005678		25213164	1	no_errors	ENST00000338094	ensembl	human	known	70_37	missense	SNP	0.999	A	A	25213164	G	A	25213164	3	1	8	1	0	0	0	0	1	0	0	0	14908	1291	45	1	206	1	SNURF	15	25213164	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		25213164	77318228	97	778										
EFTUD1	79631	genome.wustl.edu	37	chr15	82512459	82512459	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggacatgtttcaatggcactCccatcttgggtgggctccaa	11	11	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr15:82512459C>T	ENST00000268206.7	-	13	1572	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G	EFTUD1_ENST00000359445.3_Silent_p.G417G	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	468					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAATGGCACTCCCATCTTGGG	0.493																																																	0													155	150	152					15																	82512459		1942	4139	6081	SO:0001819	synonymous_variant	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1404G>A	15.37:g.82512459C>T			A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.G468	ENST00000268206.7	37	c.1404	CCDS42071.1	15																																																																																			EFTUD1	-	superfamily_Transl_elong_init/rib_B-barrel		0.493	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	C	NM_024580		82512459	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	silent	SNP	0.000	T	T	82512459	C	T	82512459	2	4	8	1	0	0	0	0	0	0	0	1	4970	842	30	1		1	EFTUD1	15	82512459	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	57299295	82512459	20018933	98	779										
AKAP13	11214	genome.wustl.edu	37	chr15	86076934	86076934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atgaagcgtatgatgcagctCaattcctagcaaccagtgct	9	10	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr15:86076934C>G	ENST00000394518.2	+	4	396	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	AKAP13_ENST00000560302.1_Missense_Mutation_p.Q101E|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q101E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	101					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATGCAGCTCAATTCCTAGC	0.493																																					Melanoma(94;603 1453 3280 32295 32951)												0													147	136	139					15																	86076934		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.301C>G	15.37:g.86076934C>G	ENSP00000378026:p.Gln101Glu		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q101E	ENST00000394518.2	37	c.301	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905370	0.72868	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.62498	0.02;0.02	5.67	5.67	0.87782	.	.	.	.	.	T	0.72407	0.3456	L	0.34521	1.04	0.80722	D	1	P;D;D	0.67145	0.952;0.971;0.996	B;P;D	0.77557	0.265;0.453;0.99	T	0.74169	-0.3752	9	0.87932	D	0	.	19.115	0.93334	0.0:1.0:0.0:0.0	.	101;101;101	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	E	101;101;100;100	ENSP00000354718:Q101E;ENSP00000378026:Q101E	ENSP00000354718:Q101E	Q	+	1	0	AKAP13	83877938	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.317000	0.65822	2.828000	0.97474	0.655000	0.94253	CAA	AKAP13	-	NULL		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86076934	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86076934	C	G	86076934	3	3	8	1	0	0	0	0	1	0	0	0	449	827	29	1	311	1	AKAP13	15	86076934	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	3564475	86076934	16454458	99	780										
ZNF200	7752	genome.wustl.edu	37	chr16	3274470	3274470	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tggaatggatgtatttagtcGttccttttcctggttatcgg	11	6	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:3274470G>A	ENST00000431561.3	-	5	1222	c.610C>T	c.(610-612)Cga>Tga	p.R204*	ZNF200_ENST00000396871.4_Nonsense_Mutation_p.R203*|ZNF200_ENST00000396870.4_Nonsense_Mutation_p.R203*|ZNF200_ENST00000396868.3_Nonsense_Mutation_p.R203*|ZNF200_ENST00000575948.1_Nonsense_Mutation_p.R203*|ZNF200_ENST00000414144.2_Nonsense_Mutation_p.R204*|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R204*(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GTATTTAGTCGTTCCTTTTCC	0.368																																																	1	Substitution - Nonsense(1)	lung(1)											120	117	118					16																	3274470		2197	4300	6497	SO:0001587	stop_gained	7752			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.610C>T	16.37:g.3274470G>A	ENSP00000395723:p.Arg204*		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R204*	ENST00000431561.3	37	c.610	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797900	0.90538	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	.	.	.	5.17	1.68	0.24146	.	1.039550	0.07632	N	0.928701	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.5933	4.3929	0.11350	0.0:0.178:0.1708:0.6512	.	.	.	.	X	204;203;203;203;204	.	ENSP00000380077:R203X	R	-	1	2	ZNF200	3214471	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.101000	0.15251	0.101000	0.17610	-0.545000	0.04230	CGA	ZNF200	-	NULL		0.368	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	G			3274470	-1	no_errors	ENST00000414144	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	3274470	G	A	3274470	4	1	8	1	0	0	0	0	0	1	0	0	17792	1153	40	2	581	2	ZNF200	16	3274470	Nonsense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		3274470	87080283	100	781										
CREBBP	1387	genome.wustl.edu	37	chr16	3900422	3900422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcatggctggagtagggtacGgcattccagctccccttcct	12	13	0	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:3900422G>A	ENST00000262367.5	-	2	1483	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CREBBP_ENST00000382070.3_Missense_Mutation_p.P225L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	225					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGTAGGGTACGGCATTCCAGC	0.582			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													94	85	88					16																	3900422		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.674C>T	16.37:g.3900422G>A	ENSP00000262367:p.Pro225Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P225L	ENST00000262367.5	37	c.674	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784196	0.49997	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83419	-1.72;-1.63	6.01	5.01	0.66863	.	0.072010	0.64402	D	0.000018	T	0.66655	0.2811	N	0.24115	0.695	0.51767	D	0.999931	B;P	0.42584	0.216;0.784	B;B	0.28991	0.015;0.097	T	0.68565	-0.5375	10	0.33940	T	0.23	-14.7972	11.7987	0.52114	0.0:0.0:0.6272:0.3728	.	293;225	Q4LE28;Q92793	.;CBP_HUMAN	L	225;293;225	ENSP00000262367:P225L;ENSP00000371502:P225L	ENSP00000262367:P225L	P	-	2	0	CREBBP	3840423	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	6.020000	0.70826	2.861000	0.98227	0.650000	0.86243	CCG	CREBBP	-	NULL		0.582	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900422	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	0.999	A	A	3900422	G	A	3900422	3	1	8	1	0	0	0	0	1	0	0	0	3866	1116	39	2	6774	2	CREBBP	16	3900422	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	625952	3900422	86454331	101	782										
SMG1	23049	genome.wustl.edu	37	chr16	18840660	18840660	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcaggcttgtcttacaagaaGaaatactggtttctagcctt	9	8	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:18840660G>T	ENST00000446231.2	-	54	9963	c.9551C>A	c.(9550-9552)tCt>tAt	p.S3184Y	SMG1_ENST00000389467.3_Missense_Mutation_p.S3184Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3184					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTACAAGAAGAAATACTGGT	0.433																																																	0													55	52	53					16																	18840660		1902	4121	6023	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9551C>A	16.37:g.18840660G>T	ENSP00000402515:p.Ser3184Tyr		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S3184Y	ENST00000446231.2	37	c.9551	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782329	0.49891	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01092	5.35;5.35	5.85	4.9	0.64082	.	0.374831	0.26321	N	0.025054	T	0.01029	0.0034	N	0.08118	0	0.33373	D	0.57386	B	0.20671	0.047	B	0.17098	0.017	T	0.48340	-0.9044	10	0.72032	D	0.01	.	15.0276	0.71682	0.068:0.0:0.932:0.0	.	3184	Q96Q15	SMG1_HUMAN	Y	3184	ENSP00000402515:S3184Y;ENSP00000374118:S3184Y	ENSP00000374118:S3184Y	S	-	2	0	SMG1	18748161	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.043000	0.76572	1.492000	0.48499	0.579000	0.79373	TCT	SMG1	-	NULL		0.433	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18840660	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18840660	G	T	18840660	3	4	8	1	0	0	0	0	1	0	0	0	14825	942	33	3	1474	3	SMG1	16	18840660	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	14940238	18840660	71514093	102	783										
ITGAM	3684	genome.wustl.edu	37	chr16	31282368	31282368	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcggatgaaggagtttgtctCaactgtgatggagcaattaa	13	5	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:31282368C>G	ENST00000287497.8	+	6	596	c.521C>G	c.(520-522)tCa>tGa	p.S174*	ITGAM_ENST00000544665.3_Nonsense_Mutation_p.S174*			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	174	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGTTTGTCTCAACTGTGATG	0.517																																																	0													155	143	147					16																	31282368		1941	4135	6076	SO:0001587	stop_gained	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.521C>G	16.37:g.31282368C>G	ENSP00000287497:p.Ser174*		Q4VAK0|Q4VAK1|Q4VAK2	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S174*	ENST00000287497.8	37	c.521	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	12.52	1.964035	0.34659	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	.	.	.	5.5	-0.362	0.12560	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.9143	0.24352	0.1168:0.472:0.3419:0.0692	.	.	.	.	X	174	.	ENSP00000287497:S174X	S	+	2	0	ITGAM	31189869	0.036000	0.19791	0.168000	0.22838	0.018000	0.09664	0.267000	0.18552	0.336000	0.23639	0.561000	0.74099	TCA	ITGAM	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	C	NM_000632		31282368	1	no_errors	ENST00000544665	ensembl	human	known	70_37	nonsense	SNP	0.003	G	G	31282368	C	G	31282368	4	3	8	1	0	0	0	0	0	1	0	0	7907	838	29	1	543	1	ITGAM	16	31282368	Nonsense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	12441708	31282368	59072385	103	784										
TOX3	27324	genome.wustl.edu	37	chr16	52473494	52473494	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tggagttgctgctgctgcatCtgttgcatctgttgttgttg	13	7	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:52473494C>A	ENST00000219746.9	-	7	1658	c.1374G>T	c.(1372-1374)caG>caT	p.Q458H	TOX3_ENST00000407228.3_Missense_Mutation_p.Q453H	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	458	Gln-rich.				apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						gctgctgcatctgttgcatct	0.557																																																	0													53	49	50					16																	52473494		2196	4296	6492	SO:0001583	missense	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1374G>T	16.37:g.52473494C>A	ENSP00000219746:p.Gln458His		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q458H	ENST00000219746.9	37	c.1374	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540660	0.27563	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.09630	2.96;2.96	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.04508	-0.205	0.44227	D	0.997061	D;D	0.71674	0.998;0.996	D;D	0.79784	0.993;0.986	T	0.40117	-0.9580	10	0.31617	T	0.26	.	13.1296	0.59373	0.0:0.9265:0.0:0.0735	.	453;458	B4DRD0;O15405	.;TOX3_HUMAN	H	458;453	ENSP00000219746:Q458H;ENSP00000385705:Q453H	ENSP00000219746:Q458H	Q	-	3	2	TOX3	51030995	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.673000	0.61604	2.783000	0.95769	0.655000	0.94253	CAG	TOX3	-	NULL		0.557	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	C	XM_049037		52473494	-1	no_errors	ENST00000219746	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52473494	C	A	52473494	3	1	8	1	0	0	0	0	1	0	0	0	16410	912	32	3	360	3	TOX3	16	52473494	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	21191126	52473494	37881259	104	785										
PLCG2	5336	genome.wustl.edu	37	chr16	81892744	81892744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gctgagaaagcagatatattCtgtggatcaaaccagaagaa	10	6	2	4			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:81892744C>G	ENST00000359376.3	+	5	669	c.455C>G	c.(454-456)tCt>tGt	p.S152C	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	152					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAGATATATTCTGTGGATCAA	0.373																																																	0													98	102	100					16																	81892744		1825	4087	5912	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.455C>G	16.37:g.81892744C>G	ENSP00000352336:p.Ser152Cys		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.S152C	ENST00000359376.3	37	c.455	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935215	0.92458	.	.	ENSG00000197943	ENST00000359376	T	0.68025	-0.3	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.66939	2.045	0.80722	D	1	D;D	0.64830	0.97;0.994	P;P	0.57371	0.664;0.819	T	0.80256	-0.1458	10	0.72032	D	0.01	.	18.1102	0.89533	0.0:1.0:0.0:0.0	.	19;152	B4E3H3;P16885	.;PLCG2_HUMAN	C	152	ENSP00000352336:S152C	ENSP00000352336:S152C	S	+	2	0	PLCG2	80450245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.752000	0.74898	2.559000	0.86315	0.650000	0.86243	TCT	PLCG2	-	pirsf_PLC-gamma		0.373	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	C			81892744	1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81892744	C	G	81892744	3	3	8	1	0	0	0	0	1	0	0	0	12060	913	32	1	469	1	PLCG2	16	81892744	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	29419250	81892744	8462009	105	786										
FAM92B	339145	genome.wustl.edu	37	chr16	85143960	85143960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cagctggtccgccttgtcccGcagccgggccgtcttgcgcg	14	17	1	0	rs202030185		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr16:85143960G>A	ENST00000539556.1	-	2	282	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	43										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GCCTTGTCCCGCAGCCGGGCC	0.642																																																	0													50	53	52					16																	85143960		2198	4300	6498	SO:0001583	missense	339145				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.127C>T	16.37:g.85143960G>A	ENSP00000443411:p.Arg43Trp			Missense_Mutation	SNP	pfam_FAM92	p.R43W	ENST00000539556.1	37	c.127	CCDS32500.1	16	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788491	0.49997	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.60171	0.21	5.38	0.845	0.18950	.	0.000000	0.64402	D	0.000016	T	0.76793	0.4037	M	0.86740	2.835	0.40094	D	0.97628	D	0.89917	1.0	D	0.97110	1.0	T	0.81272	-0.1008	10	0.87932	D	0	-32.6762	13.9565	0.64152	0.0:0.0:0.3457:0.6543	.	43	Q6ZTR7	FA92B_HUMAN	W	43	ENSP00000443411:R43W	ENSP00000376937:R43W	R	-	1	2	FAM92B	83701461	0.987000	0.35691	0.947000	0.38551	0.194000	0.23727	1.631000	0.37092	0.223000	0.20920	-0.314000	0.08810	CGG	FAM92B	-	pfam_FAM92		0.642	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	HGNC	protein_coding		G	NM_198491		85143960	-1	no_errors	ENST00000539556	ensembl	human	known	70_37	missense	SNP	0.996	A	A	85143960	G	A	85143960	3	1	8	1	0	0	0	0	1	0	0	0	5671	1086	38	2	815	2	FAM92B	16	85143960	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	3251216	85143960	5210793	106	787										
NLGN2	57555	genome.wustl.edu	37	chr17	7318956	7318956	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gtcaaccagggagagggcctCaagttcgtggaggactctgc	15	10	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr17:7318956C>G	ENST00000302926.2	+	6	1237	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	NLGN2_ENST00000575301.1_Silent_p.L388L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	388					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GAGAGGGCCTCAAGTTCGTGG	0.577																																																	0													212	167	182					17																	7318956		2203	4300	6503	SO:0001819	synonymous_variant	57555			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1164C>G	17.37:g.7318956C>G			Q9P2I1	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L388	ENST00000302926.2	37	c.1164	CCDS11103.1	17																																																																																			NLGN2	-	pfam_CarbesteraseB		0.577	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	C	NM_020795		7318956	1	no_errors	ENST00000302926	ensembl	human	known	70_37	silent	SNP	1.000	G	G	7318956	C	G	7318956	2	3	8	1	0	0	0	0	0	0	0	1	10486	813	29	1		1	NLGN2	17	7318956	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		7318956	73876254	107	788										
AURKB	9212	genome.wustl.edu	37	chr17	8109913	8109913	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atgtctctgtgaatcaccttCttcccatggcagtacattag	7	11	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr17:8109913C>T	ENST00000585124.1	-	7	675	c.582G>A	c.(580-582)aaG>aaA	p.K194K	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Silent_p.K195K|AURKB_ENST00000534871.1_Silent_p.K153K|AURKB_ENST00000578549.1_Silent_p.K162K	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						GAATCACCTTCTTCCCATGGC	0.532																																					NSCLC(134;1161 2470 43664 51568)												0													141	115	124					17																	8109913		2203	4300	6503	SO:0001819	synonymous_variant	9212			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.582G>A	17.37:g.8109913C>T			B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	NULL	p.E101K	ENST00000585124.1	37	c.301	CCDS11134.1	17																																																																																			AURKB	-	NULL		0.532	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2	C	NM_004217		8109913	-1	no_errors	ENST00000580998	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8109913	C	T	8109913	2	4	8	1	0	0	0	0	0	0	0	1	1224	912	32	1		1	AURKB	17	8109913	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	790957	8109913	73085297	108	789										
MED1	5469	genome.wustl.edu	37	chr17	37566919	37566919	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cagtgctggggtgtcggcttGaatggtttcagctttcctcc	13	10	1	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr17:37566919G>A	ENST00000394287.3	-	17	1760	c.1555C>T	c.(1555-1557)Caa>Taa	p.Q519*	MED1_ENST00000300651.6_Nonsense_Mutation_p.Q519*			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTGTCGGCTTGAATGGTTTCA	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													92	85	87					17																	37566919		2203	4300	6503	SO:0001587	stop_gained	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1555C>T	17.37:g.37566919G>A	ENSP00000377828:p.Gln519*		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.Q519*	ENST00000394287.3	37	c.1555		17	.	.	.	.	.	.	.	.	.	.	G	37	6.049823	0.97236	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.0264	20.0505	0.97625	0.0:0.0:1.0:0.0	.	.	.	.	X	519	.	ENSP00000300651:Q519X	Q	-	1	0	MED1	34820445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.739000	0.93911	0.561000	0.74099	CAA	MED1	-	NULL		0.488	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	G	NM_004774		37566919	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	37566919	G	A	37566919	4	1	8	1	0	0	0	0	0	1	0	0	9448	1299	45	1	3194	1	MED1	17	37566919	Nonsense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	29457006	37566919	43628291	109	790										
KRTAP4-12	83755	genome.wustl.edu	37	chr17	39280341	39280341	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctccaggccacagccctggtCagagcacacagagccacaac	9	17	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr17:39280341C>G	ENST00000394014.1	-	1	78	c.34G>C	c.(34-36)Gac>Cac	p.D12H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	12	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCCCTGGTCAGAGCACACA	0.612																																																	0													56	63	61					17																	39280341		2203	4297	6500	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.34G>C	17.37:g.39280341C>G	ENSP00000377582:p.Asp12His		A3KMC5|Q495I0	Missense_Mutation	SNP	pfam_Keratin-assoc	p.D12H	ENST00000394014.1	37	c.34	CCDS32649.1	17	.	.	.	.	.	.	.	.	.	.	.	10.96	1.499585	0.26861	.	.	ENSG00000213416	ENST00000394014;ENST00000455597	T	0.00585	6.39	4.49	4.49	0.54785	.	1.446790	0.05191	U	0.503197	T	0.02119	0.0066	M	0.73753	2.245	0.28764	N	0.900762	P	0.48998	0.918	P	0.55455	0.776	T	0.45308	-0.9270	10	0.46703	T	0.11	.	8.5984	0.33729	0.0:0.8966:0.0:0.1033	.	12	Q9BQ66	KR412_HUMAN	H	12	ENSP00000377582:D12H	ENSP00000377582:D12H	D	-	1	0	KRTAP4-12	36533867	0.002000	0.14202	0.987000	0.45799	0.352000	0.29268	1.024000	0.30077	2.491000	0.84063	0.455000	0.32223	GAC	KRTAP4-12	-	NULL		0.612	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-12	HGNC	protein_coding	OTTHUMT00000257777.1	C			39280341	-1	no_errors	ENST00000394014	ensembl	human	known	70_37	missense	SNP	0.970	G	G	39280341	C	G	39280341	3	3	8	1	0	0	0	0	1	0	0	0	8570	826	29	1	575	1	KRTAP4-12	17	39280341	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	1713422	39280341	41914869	110	791										
LRRC37A	9884	genome.wustl.edu	37	chr17	44409004	44409004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	caacaacgtgggcactgaccTgtcccccgagcccaaaagct	9	16	0	1	rs62073248	byFrequency	TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr17:44409004T>C	ENST00000320254.5	+	9	4364	c.4361T>C	c.(4360-4362)cTg>cCg	p.L1454P	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.L1454P|LRRC37A_ENST00000496930.1_Missense_Mutation_p.L492P	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1454						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGCACTGACCTGTCCCCCGAG	0.502																																																	0																																										SO:0001583	missense	9884			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.4361T>C	17.37:g.44409004T>C	ENSP00000326324:p.Leu1454Pro		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1454P	ENST00000320254.5	37	c.4361	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	t	6.227	0.410104	0.11812	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.59638	1.45;0.25;0.26	2.49	1.29	0.21616	.	.	.	.	.	T	0.65238	0.2672	L	0.59436	1.845	0.09310	N	1	D;D;D	0.76494	0.999;0.969;0.995	D;P;D	0.75484	0.931;0.651;0.986	T	0.50890	-0.8774	9	0.45353	T	0.12	.	3.2767	0.06901	0.0:0.503:0.0:0.497	.	492;574;1454	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	P	492;1454;1454;1454	ENSP00000437021:L492P;ENSP00000377108:L1454P;ENSP00000326324:L1454P	ENSP00000326324:L1454P	L	+	2	0	LRRC37A	41764765	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.093000	0.15086	0.349000	0.23975	0.347000	0.21830	CTG	LRRC37A	-	NULL		0.502	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	T	NM_014834		44409004	1	no_errors	ENST00000320254	ensembl	human	known	70_37	missense	SNP	0.000	C	C	44409004	T	C	44409004	3	2	8	1	0	0	0	0	1	0	0	0	9014	1580	55	5	4395	5	LRRC37A	17	44409004	Missense_Mutation	SNP	T	TCGA-C5-A1BJ-01A-11D-A13W-08	5128663	44409004	36786206	111	792										
SKAP1	8631	genome.wustl.edu	37	chr17	46239875	46239875	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	accccgttggaaggacagttCatctggctggtcaccatggc	12	12	3	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr17:46239875C>T	ENST00000336915.6	-	11	1003	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	SKAP1_ENST00000584924.1_Missense_Mutation_p.E312K	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGGACAGTTCATCTGGCTGG	0.423																																																	0													110	92	98					17																	46239875		2203	4300	6503	SO:0001583	missense	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.934G>A	17.37:g.46239875C>T	ENSP00000338171:p.Glu312Lys		D3DTV1|O15268	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.E312K	ENST00000336915.6	37	c.934	CCDS32674.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.071620	0.93950	.	.	ENSG00000141293	ENST00000336915	T	0.63255	-0.03	5.84	5.84	0.93424	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86358	0.1715	10	0.87932	D	0	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	311;312	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	K	312	ENSP00000338171:E312K	ENSP00000338171:E312K	E	-	1	0	SKAP1	43594874	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.317000	0.79018	2.765000	0.95021	0.655000	0.94253	GAA	SKAP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.423	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	HGNC	protein_coding	OTTHUMT00000443432.1	C	NM_003726		46239875	-1	no_errors	ENST00000336915	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46239875	C	T	46239875	3	4	8	1	0	0	0	0	1	0	0	0	14385	835	29	1	153	1	SKAP1	17	46239875	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	1830871	46239875	34955335	112	793										
CEP192	55125	genome.wustl.edu	37	chr18	13114219	13114219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tagttaagccccgaagacaaGctgtgtcagaggcttctgct	11	10	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr18:13114219G>C	ENST00000325971.8	+	40	7063	c.5470G>C	c.(5470-5472)Gct>Cct	p.A1824P	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.A2420P|CEP192_ENST00000430049.2_Missense_Mutation_p.A1945P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1824					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCGAAGACAAGCTGTGTCAGA	0.398																																																	0													158	155	156					18																	13114219		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5470G>C	18.37:g.13114219G>C	ENSP00000317156:p.Ala1824Pro		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.A2420P	ENST00000325971.8	37	c.7258		18	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288905	0.59976	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06528	3.29;3.29;3.29	5.38	2.11	0.27256	.	0.403279	0.25909	N	0.027507	T	0.13200	0.0320	L	0.53249	1.67	0.09310	N	1	D;P;D;B	0.71674	0.998;0.681;0.963;0.003	P;B;P;B	0.60541	0.876;0.274;0.735;0.005	T	0.03933	-1.0991	10	0.66056	D	0.02	-6.999	5.7575	0.18180	0.0803:0.2488:0.5438:0.1271	.	1945;2420;424;1022	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	P	2420;1824;1824;1945;424	ENSP00000427550:A2420P;ENSP00000317156:A1824P;ENSP00000389190:A1945P	ENSP00000317156:A1824P	A	+	1	0	CEP192	13104219	0.023000	0.18921	0.001000	0.08648	0.754000	0.42855	1.028000	0.30128	0.644000	0.30656	0.455000	0.32223	GCT	CEP192	-	NULL		0.398	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		G	NM_032142		13114219	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	0.000	C	C	13114219	G	C	13114219	3	2	8	1	0	0	0	0	1	0	0	0	3256	971	34	4	7420	4	CEP192	18	13114219	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		13114219	64963029	113	794										
MC2R	4158	genome.wustl.edu	37	chr18	13884966	13884966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cacaggatgaagaccagcatCagcgggaacagcgacgtgaa	13	10	1	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr18:13884966C>T	ENST00000327606.3	-	2	732	c.552G>A	c.(550-552)ctG>ctA	p.L184L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	184					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGACCAGCATCAGCGGGAACA	0.562																																					Colon(141;1584 1782 35999 48227 48692)												0													154	126	136					18																	13884966		2203	4300	6503	SO:0001819	synonymous_variant	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.552G>A	18.37:g.13884966C>T			A8K016|Q3MI45|Q504X6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.L184	ENST00000327606.3	37	c.552	CCDS11869.1	18																																																																																			MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.562	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	C			13884966	-1	no_errors	ENST00000327606	ensembl	human	known	70_37	silent	SNP	0.257	T	T	13884966	C	T	13884966	2	4	8	1	0	0	0	0	0	0	0	1	9387	813	29	1		1	MC2R	18	13884966	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	770747	13884966	64192282	114	795										
KLHL14	57565	genome.wustl.edu	37	chr18	30350010	30350010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cctgcttgtagttctgcaccGagatctggtcgttgaggaac	12	10	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr18:30350010G>A	ENST00000359358.4	-	2	983	c.545C>T	c.(544-546)tCg>tTg	p.S182L	KLHL14_ENST00000358095.4_Missense_Mutation_p.S182L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	182						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTTCTGCACCGAGATCTGGTC	0.602																																																	0													133	113	120					18																	30350010		2203	4300	6503	SO:0001583	missense	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.545C>T	18.37:g.30350010G>A	ENSP00000352314:p.Ser182Leu		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S182L	ENST00000359358.4	37	c.545	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535603	0.27475	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.77877	-0.87;-1.13	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	L	0.27053	0.805	0.58432	D	0.999992	B	0.30439	0.279	B	0.23852	0.049	T	0.69540	-0.5118	10	0.59425	D	0.04	.	16.2279	0.82311	0.0:0.0:1.0:0.0	.	182	Q9P2G3	KLH14_HUMAN	L	182	ENSP00000352314:S182L;ENSP00000350808:S182L	ENSP00000350808:S182L	S	-	2	0	KLHL14	28604008	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.682000	0.74528	2.160000	0.67779	0.305000	0.20034	TCG	KLHL14	-	pirsf_Kelch-like_gigaxonin		0.602	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	G			30350010	-1	no_errors	ENST00000359358	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30350010	G	A	30350010	3	1	8	1	0	0	0	0	1	0	0	0	8390	1059	37	1	1373	1	KLHL14	18	30350010	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	16465044	30350010	47727238	115	796										
CHAF1A	10036	genome.wustl.edu	37	chr19	4430573	4430573	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	atgacgacatgggagaggatGaagatgaggacgatggtttc	16	4	0	5			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:4430573G>A	ENST00000301280.5	+	11	1983	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	628					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGAGGATGAAGATGAGGA	0.473								Chromatin Structure																																									0													155	123	134					19																	4430573		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1882G>A	19.37:g.4430573G>A	ENSP00000301280:p.Glu628Lys		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.E628K	ENST00000301280.5	37	c.1882	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769820	0.69992	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.08984	3.03	4.25	4.25	0.50352	.	.	.	.	.	T	0.24431	0.0592	M	0.84326	2.69	0.80722	D	1	D	0.59357	0.985	P	0.53102	0.718	T	0.10706	-1.0618	9	0.87932	D	0	-18.4349	15.7998	0.78443	0.0:0.0:1.0:0.0	.	628	Q13111	CAF1A_HUMAN	K	628	ENSP00000301280:E628K	ENSP00000301280:E628K	E	+	1	0	CHAF1A	4381573	1.000000	0.71417	0.993000	0.49108	0.157000	0.22087	8.655000	0.91098	2.200000	0.70718	0.313000	0.20887	GAA	CHAF1A	-	pfam_CAF1A		0.473	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	G	NM_005483		4430573	1	no_errors	ENST00000301280	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4430573	G	A	4430573	3	1	8	1	0	0	0	0	1	0	0	0	3316	1291	45	1	1924	1	CHAF1A	19	4430573	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		4430573	54698410	116	797										
MCOLN1	57192	genome.wustl.edu	37	chr19	7593569	7593569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tctgcgcccgctcactccttCgaggcttcctgctgcagaac	9	17	2	1	rs121908371		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:7593569C>T	ENST00000264079.6	+	8	1089	c.964C>T	c.(964-966)Cga>Tga	p.R322*		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	322					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCACTCCTTCGAGGCTTCCT	0.632																																																	0			GRCh37	CM002428	MCOLN1	M	rs121908371						135	85	102					19																	7593569		2203	4300	6503	SO:0001587	stop_gained	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.964C>T	19.37:g.7593569C>T	ENSP00000264079:p.Arg322*		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.R322*	ENST00000264079.6	37	c.964	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.732158	0.96856	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	.	.	.	5.32	5.32	0.75619	.	0.056050	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4854	0.84183	0.0:1.0:0.0:0.0	.	.	.	.	X	322;287	.	ENSP00000264079:R322X	R	+	1	2	MCOLN1	7499569	0.156000	0.22821	0.916000	0.36221	0.394000	0.30568	0.831000	0.27476	2.492000	0.84095	0.563000	0.77884	CGA	MCOLN1	-	NULL		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7593569	1	no_errors	ENST00000264079	ensembl	human	known	70_37	nonsense	SNP	0.882	T	T	7593569	C	T	7593569	4	4	8	1	0	0	0	0	0	1	0	0	9418	876	31	1	994	1	MCOLN1	19	7593569	Nonsense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	3162996	7593569	51535414	117	798										
PCP2	126006	genome.wustl.edu	37	chr19	7696640	7696640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gccgagagcggtcgggtcctGaggggtgagcaggggttggg	23	7	0	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:7696640G>C	ENST00000311069.5	-	4	636	c.346C>G	c.(346-348)Cag>Gag	p.Q116E	CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Missense_Mutation_p.Q100E|PET100_ENST00000594797.1_3'UTR|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.6_ENST00000601797.1_RNA|XAB2_ENST00000534844.1_5'Flank	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	116					rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						GTCGGGTCCTGAGGGGTGAGC	0.682																																																	0													50	49	49					19																	7696640		2202	4295	6497	SO:0001583	missense	126006			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.346C>G	19.37:g.7696640G>C	ENSP00000310585:p.Gln116Glu		M0R2R7|Q3KRG7	Missense_Mutation	SNP	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.Q116E	ENST00000311069.5	37	c.346	CCDS32893.1	19	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480167	0.63849	.	.	ENSG00000174788	ENST00000311069	.	.	.	4.63	3.51	0.40186	.	0.555420	0.15193	N	0.275462	T	0.21267	0.0512	N	0.24115	0.695	0.27690	N	0.946159	P	0.42409	0.779	B	0.34873	0.191	T	0.08391	-1.0724	9	0.51188	T	0.08	-5.5542	9.1759	0.37112	0.0:0.0:0.7833:0.2167	.	116	Q8IVA1	PCP2_HUMAN	E	116	.	ENSP00000310585:Q116E	Q	-	1	0	PCP2	7602640	0.996000	0.38824	0.992000	0.48379	0.902000	0.53008	3.621000	0.54210	2.127000	0.65507	0.561000	0.74099	CAG	PCP2	-	NULL		0.682	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	HGNC	protein_coding	OTTHUMT00000461026.2	G	XM_058956		7696640	-1	no_errors	ENST00000311069	ensembl	human	known	70_37	missense	SNP	0.959	C	C	7696640	G	C	7696640	3	2	8	1	0	0	0	0	1	0	0	0	11621	1299	45	1	68	1	PCP2	19	7696640	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	103071	7696640	51432343	118	799										
TYK2	7297	genome.wustl.edu	37	chr19	10478851	10478851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	acagccggttcccgaggattCatgccatgccagttccggaa	11	13	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:10478851C>T	ENST00000525621.1	-	5	826	c.345G>A	c.(343-345)atG>atA	p.M115I	TYK2_ENST00000529370.1_Missense_Mutation_p.M115I|TYK2_ENST00000264818.6_Missense_Mutation_p.M115I|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	115	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCGAGGATTCATGCCATGCC	0.592																																																	0													92	76	82					19																	10478851		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.345G>A	19.37:g.10478851C>T	ENSP00000431885:p.Met115Ile		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.M115I	ENST00000525621.1	37	c.345	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324103	0.41096	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.27	3.02	0.34903	Band 4.1 domain (1);FERM domain (1);	0.505869	0.16412	N	0.215543	T	0.57636	0.2067	L	0.44542	1.39	0.09310	N	1	P;B	0.35745	0.518;0.046	B;B	0.30316	0.114;0.045	T	0.44375	-0.9332	10	0.39692	T	0.17	-21.1204	9.2891	0.37775	0.0:0.8191:0.0:0.1809	.	115;115	E9PPF2;P29597	.;TYK2_HUMAN	I	115	ENSP00000431885:M115I;ENSP00000264818:M115I;ENSP00000432728:M115I;ENSP00000436175:M115I	ENSP00000264818:M115I	M	-	3	0	TYK2	10339851	0.001000	0.12720	0.196000	0.23383	0.925000	0.55904	-0.160000	0.10041	0.511000	0.28236	0.544000	0.68410	ATG	TYK2	-	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.592	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10478851	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.011	T	T	10478851	C	T	10478851	3	4	8	1	0	0	0	0	1	0	0	0	16841	826	29	1	3302	1	TYK2	19	10478851	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	2782211	10478851	48650132	119	800										
CCDC105	126402	genome.wustl.edu	37	chr19	15132520	15132520	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tacaccacccacggtctcatCaaggtacggttcggggtgag	12	12	2	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:15132520C>G	ENST00000292574.3	+	5	1216	c.1134C>G	c.(1132-1134)atC>atG	p.I378M		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	378						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACGGTCTCATCAAGGTACGGT	0.572																																																	0													70	69	69					19																	15132520		2203	4300	6503	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1134C>G	19.37:g.15132520C>G	ENSP00000292574:p.Ile378Met		Q8N7T5|Q8NDL5	Missense_Mutation	SNP	pfam_Tektin	p.I378M	ENST00000292574.3	37	c.1134	CCDS12322.1	19	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357827	0.24598	.	.	ENSG00000160994	ENST00000292574	T	0.02345	4.33	3.67	1.46	0.22682	.	0.344395	0.23396	N	0.048633	T	0.04497	0.0123	L	0.57536	1.79	0.24611	N	0.993728	P	0.47191	0.891	P	0.46144	0.505	T	0.29671	-1.0004	10	0.45353	T	0.12	-16.9275	6.2614	0.20901	0.0:0.7563:0.0:0.2437	.	378	Q8IYK2	CC105_HUMAN	M	378	ENSP00000292574:I378M	ENSP00000292574:I378M	I	+	3	3	CCDC105	14993520	0.999000	0.42202	1.000000	0.80357	0.327000	0.28475	1.107000	0.31110	0.783000	0.33636	-0.242000	0.12053	ATC	CCDC105	-	pfam_Tektin		0.572	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	HGNC	protein_coding	OTTHUMT00000466293.1	C	NM_173482		15132520	1	no_errors	ENST00000292574	ensembl	human	known	70_37	missense	SNP	0.996	G	G	15132520	C	G	15132520	3	3	8	1	0	0	0	0	1	0	0	0	2745	816	29	1	1152	1	CCDC105	19	15132520	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	4653669	15132520	43996463	120	801										
SYDE1	85360	genome.wustl.edu	37	chr19	15220632	15220632	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcggcgccgcctgagcctgcGaggcccccgggctggcaggg	19	16	0	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:15220632G>C	ENST00000342784.2	+	3	579	c.548G>C	c.(547-549)cGa>cCa	p.R183P	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Missense_Mutation_p.R116P	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	183					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGAGCCTGCGAGGCCCCCGG	0.736																																																	0													1	2	2					19																	15220632		1409	2873	4282	SO:0001583	missense	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.548G>C	19.37:g.15220632G>C	ENSP00000341489:p.Arg183Pro		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R183P	ENST00000342784.2	37	c.548	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736150	0.69189	.	.	ENSG00000105137	ENST00000342784	T	0.16457	2.34	3.7	3.7	0.42460	.	0.000000	0.64402	D	0.000010	T	0.31888	0.0811	L	0.53249	1.67	0.29577	N	0.849483	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.05937	-1.0855	10	0.66056	D	0.02	.	7.4911	0.27462	0.1232:0.0:0.8767:0.0	.	116;183	Q6ZW31-2;Q6ZW31	.;SYDE1_HUMAN	P	183	ENSP00000341489:R183P	ENSP00000341489:R183P	R	+	2	0	SYDE1	15081632	0.990000	0.36364	0.337000	0.25536	0.983000	0.72400	5.692000	0.68256	1.812000	0.52913	0.573000	0.79308	CGA	SYDE1	-	NULL		0.736	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	G	NM_033025		15220632	1	no_errors	ENST00000342784	ensembl	human	known	70_37	missense	SNP	0.458	C	C	15220632	G	C	15220632	3	2	8	1	0	0	0	0	1	0	0	0	15465	1058	37	1	558	1	SYDE1	19	15220632	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	88112	15220632	43908351	121	802										
SLC7A9	11136	genome.wustl.edu	37	chr19	33355545	33355545	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gtctctttacccagcgtcgcGaggaccccgcaagccgccca	10	18	1	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:33355545G>C	ENST00000023064.4	-	3	416	c.225C>G	c.(223-225)ctC>ctG	p.L75L	SLC7A9_ENST00000587772.1_Silent_p.L75L|SLC7A9_ENST00000590341.1_Silent_p.L75L|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	75					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCAGCGTCGCGAGGACCCCGC	0.632																																					GBM(181;1335 2108 9644 44178 46689)												0													71	70	71					19																	33355545		2203	4300	6503	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.225C>G	19.37:g.33355545G>C			B2R9A6	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.L75	ENST00000023064.4	37	c.225	CCDS12425.1	19																																																																																			SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.632	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	G			33355545	-1	no_errors	ENST00000023064	ensembl	human	known	70_37	silent	SNP	0.023	C	C	33355545	G	C	33355545	2	2	8	1	0	0	0	0	0	0	0	1	14735	1045	37	1		1	SLC7A9	19	33355545	Silent	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	18134913	33355545	25773438	122	803										
C19orf54	284325	genome.wustl.edu	37	chr19	41248441	41248441	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cccggccgtcagtggcccgtGagggcgagaagtccgtcagc	16	14	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:41248441G>A	ENST00000378313.2	-	6	1072	c.953C>T	c.(952-954)tCa>tTa	p.S318L	C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Missense_Mutation_p.S146L|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598485.2_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	318										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTGGCCCGTGAGGGCGAGAA	0.652																																																	0													37	33	35					19																	41248441		2202	4300	6502	SO:0001583	missense	284325			AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.953C>T	19.37:g.41248441G>A	ENSP00000367564:p.Ser318Leu		A8MSZ5|B4DNU7	Missense_Mutation	SNP	NULL	p.S318L	ENST00000378313.2	37	c.953	CCDS12564.2	19	.	.	.	.	.	.	.	.	.	.	G	6.271	0.418175	0.11870	.	.	ENSG00000188493	ENST00000378313	.	.	.	5.48	2.15	0.27550	.	0.942748	0.09025	N	0.859625	T	0.25158	0.0611	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.003	T	0.20338	-1.0278	9	0.31617	T	0.26	-2.9401	4.5718	0.12214	0.24:0.0:0.5247:0.2352	.	146;318	Q5BKX5-3;Q5BKX5	.;CS054_HUMAN	L	318	.	ENSP00000367564:S318L	S	-	2	0	C19orf54	45940281	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	0.699000	0.25586	0.797000	0.33971	-0.251000	0.11542	TCA	C19orf54	-	NULL		0.652	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf54	HGNC	protein_coding	OTTHUMT00000316701.1	G	NM_198476		41248441	-1	no_errors	ENST00000378313	ensembl	human	known	70_37	missense	SNP	0.000	A	A	41248441	G	A	41248441	3	1	8	1	0	0	0	0	1	0	0	0	1941	1294	45	1	106	1	C19orf54	19	41248441	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	7892896	41248441	17880542	123	804										
RPL13A	23521	genome.wustl.edu	37	chr19	49993803	49993803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcccctaccacttccgggccCccagccgcatcttctggcgg	10	20	2	0	rs11539139		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:49993803C>T	ENST00000391857.4	+	4	302	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	CTD-3148I10.15_ENST00000595815.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD32A_ENST00000364805.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD35A_ENST00000363389.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	76					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTTCCGGGCCCCCAGCCGCAT	0.647																																																	0													29	34	32					19																	49993803		2202	4299	6501	SO:0001583	missense	23521			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.226C>T	19.37:g.49993803C>T	ENSP00000375730:p.Pro76Ser		A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.P76S	ENST00000391857.4	37	c.226	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.084149	0.94100	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.46	4.41	0.53225	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	D	0.85031	0.5604	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.88413	0.3023	9	0.87932	D	0	.	13.508	0.61495	0.1569:0.8431:0.0:0.0	rs11539139	76;76	Q5QTS3;P40429	.;RL13A_HUMAN	S	76	.	ENSP00000375730:P76S	P	+	1	0	RPL13A	54685615	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.562000	0.67346	1.272000	0.44329	0.655000	0.94253	CCC	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc		0.647	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	C			49993803	1	no_errors	ENST00000391857	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49993803	C	T	49993803	3	4	8	1	0	0	0	0	1	0	0	0	13590	623	22	4	240	4	RPL13A	19	49993803	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	8745362	49993803	9135180	124	805										
PRRG2	5639	genome.wustl.edu	37	chr19	50093638	50093638	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cctcttgcagcctcaggaggCctcactgaagagctgctttc	10	14	3	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:50093638C>G	ENST00000246794.5	+	7	770	c.601C>G	c.(601-603)Cct>Gct	p.P201A	PRRG2_ENST00000596700.1_3'UTR|PRR12_ENST00000418929.2_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	201						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CCTCAGGAGGCCTCACTGAAG	0.592																																																	0													156	149	151					19																	50093638		2203	4300	6503	SO:0001583	missense	5639				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.601C>G	19.37:g.50093638C>G	ENSP00000246794:p.Pro201Ala		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.P201A	ENST00000246794.5	37	c.601	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770939	0.49680	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.96913	-4.17	3.47	-0.398	0.12418	.	0.396100	0.19374	U	0.115821	D	0.88097	0.6345	N	0.08118	0	0.09310	N	1	B;B	0.22683	0.073;0.043	B;B	0.22601	0.04;0.018	T	0.80995	-0.1133	10	0.87932	D	0	-2.6829	5.6054	0.17377	0.0:0.529:0.0:0.471	.	178;201	F5GZ13;O14669	.;TMG2_HUMAN	A	201;178	ENSP00000246794:P201A	ENSP00000246794:P201A	P	+	1	0	PRRG2	54785450	0.007000	0.16637	0.010000	0.14722	0.841000	0.47740	0.087000	0.14958	0.013000	0.14918	0.313000	0.20887	CCT	PRRG2	-	NULL		0.592	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	C	NM_000951		50093638	1	no_errors	ENST00000246794	ensembl	human	known	70_37	missense	SNP	0.010	G	G	50093638	C	G	50093638	3	3	8	1	0	0	0	0	1	0	0	0	12633	739	26	4	623	4	PRRG2	19	50093638	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	99835	50093638	9035345	125	806										
ZNF808	388558	genome.wustl.edu	37	chr19	53057628	53057628	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	agaaaacttacaagtgtaatGagtgtcgcaagaccttcagc	9	8	1	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:53057628G>C	ENST00000359798.4	+	5	1639	c.1459G>C	c.(1459-1461)Gag>Cag	p.E487Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGTGTAATGAGTGTCGCAA	0.423																																																	0													80	85	84					19																	53057628		2203	4300	6503	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1459G>C	19.37:g.53057628G>C	ENSP00000352846:p.Glu487Gln		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E487Q	ENST00000359798.4	37	c.1459	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	8.601	0.886963	0.17540	.	.	ENSG00000198482	ENST00000359798	T	0.07444	3.19	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	N	0.20401	0.57	0.09310	N	1	D	0.56968	0.978	P	0.58780	0.845	T	0.33085	-0.9882	9	0.34782	T	0.22	.	9.9166	0.41439	0.0:0.0:1.0:0.0	.	487	Q8N4W9	ZN808_HUMAN	Q	487	ENSP00000352846:E487Q	ENSP00000352846:E487Q	E	+	1	0	ZNF808	57749440	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	-0.026000	0.12392	0.798000	0.33994	0.195000	0.17529	GAG	ZNF808	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	G	NM_001039886		53057628	1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.003	C	C	53057628	G	C	53057628	3	2	8	1	0	0	0	0	1	0	0	0	18203	1291	45	1	1469	1	ZNF808	19	53057628	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	2963990	53057628	6071355	126	807										
ZNF415	55786	genome.wustl.edu	37	chr19	53612640	53612640	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	attcaaggctttgtcgcactCaatatatctgtaaggttttt	7	7	3	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:53612640C>G	ENST00000500065.4	-	4	991	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	ZNF415_ENST00000440291.1_Missense_Mutation_p.E207Q|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.E268Q|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.E232Q|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.E220Q|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.E268Q|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTGTCGCACTCAATATATCTG	0.383																																																	0													154	123	133					19																	53612640		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.658G>C	19.37:g.53612640C>G	ENSP00000439435:p.Glu220Gln		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.E268Q	ENST00000500065.4	37	c.802	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	8.299	0.819519	0.16607	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	2.61	0.239	0.15484	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24774	0.0601	L	0.38953	1.18	0.09310	N	1	B;B;B;D;P;D	0.61080	0.352;0.007;0.36;0.981;0.537;0.989	B;B;B;D;B;P	0.69479	0.133;0.023;0.063;0.964;0.175;0.89	T	0.13602	-1.0503	9	0.39692	T	0.17	.	6.6806	0.23117	0.0:0.7081:0.1797:0.1122	.	220;268;268;220;207;232	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	Q	220;220;268;232;268;207	ENSP00000243643:E220Q;ENSP00000439435:E220Q;ENSP00000396492:E268Q;ENSP00000395055:E232Q;ENSP00000388787:E268Q;ENSP00000414601:E207Q	ENSP00000243643:E220Q	E	-	1	0	ZNF415	58304452	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.261000	0.18442	0.021000	0.15133	-0.676000	0.03789	GAG	ZNF415	-	NULL		0.383	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	C	NM_018355		53612640	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	missense	SNP	0.000	G	G	53612640	C	G	53612640	3	3	8	1	0	0	0	0	1	0	0	0	17922	835	29	1	1013	1	ZNF415	19	53612640	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	555012	53612640	5516343	127	808										
LILRB3	11025	genome.wustl.edu	37	chr19	54725798	54725798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	acctccacctgtggctggggGtcacggggcccacagggaac	15	14	1	0	rs75069054	byFrequency	TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr19:54725798G>T	ENST00000391750.1	-	5	696	c.560C>A	c.(559-561)aCc>aAc	p.T187N	LILRB3_ENST00000407860.2_Missense_Mutation_p.T187N|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.T187N|LILRB3_ENST00000346401.6_Missense_Mutation_p.T187N|LILRB3_ENST00000424807.1_Missense_Mutation_p.T187N|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	187	Ig-like C2-type 2.			T -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGCTGGGGGTCACGGGGCC	0.607													.|||	2652	0.529553	0.4879	0.6513	5008	,	,		6917	0.6359		0.5537	False		,,,				2504	0.365																0													7	13	11					19																	54725798		1486	3166	4652	SO:0001583	missense	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.560C>A	19.37:g.54725798G>T	ENSP00000375630:p.Thr187Asn		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T187N	ENST00000391750.1	37	c.560	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433732	0.25813	.	.	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	2.87	-2.62	0.06152	Immunoglobulin-like fold (1);	0.947785	0.08786	N	0.894018	T	0.26231	0.0640	M	0.89785	3.06	0.58432	P	1.0000000000287557E-6	B;P;P;B;B	0.50443	0.017;0.484;0.935;0.188;0.427	B;B;P;B;B	0.52856	0.04;0.264;0.711;0.161;0.223	T	0.24835	-1.0149	9	0.36615	T	0.2	.	1.3588	0.02187	0.1229:0.1852:0.3149:0.3769	.	187;187;187;187;187	B5MCX0;F8WD89;O75022-2;O75022;O75022-3	.;.;.;LIRB3_HUMAN;.	N	187	ENSP00000375630:T187N;ENSP00000412771:T187N;ENSP00000345184:T187N;ENSP00000245620:T187N;ENSP00000384274:T187N	ENSP00000245620:T187N	T	-	2	0	LILRB3	59417610	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	-1.324000	0.02690	-0.367000	0.08052	0.573000	0.79308	ACC	LILRB3	-	NULL		0.607	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	G	NM_006864		54725798	-1	no_errors	ENST00000407860	ensembl	human	known	70_37	missense	SNP	0.001	T	T	54725798	G	T	54725798	3	4	8	1	0	0	0	0	1	0	0	0	8812	1261	44	4	1378	4	LILRB3	19	54725798	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	1113158	54725798	4403185	128	809										
TGM6	343641	genome.wustl.edu	37	chr20	2411091	2411091	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cacttctgctttcccttccaGagaagagaatcccaattaca	5	13	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr20:2411091G>A	ENST00000202625.2	+	11	1739		c.e11-1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCCCTTCCAGAGAAGAGAAT	0.453																																																	0													86	83	84					20																	2411091		2203	4300	6503	SO:0001630	splice_region_variant	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1679-1G>A	20.37:g.2411091G>A			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Splice_Site	SNP	-	e11-1	ENST00000202625.2	37	c.1679-1	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044445	0.75732	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.508	0.75757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM6	2359091	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.552000	0.67281	2.722000	0.93159	0.655000	0.94253	.	TGM6	-	-		0.453	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	G	NM_198994	Intron	2411091	1	no_errors	ENST00000202625	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	2411091	G	A	2411091	5	1	8	1	0	0	0	0	0	0	1	0	15864	956	33	1	1720	1	TGM6	20	2411091	Splice_Site	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		2411091	60614429	129	810										
HNF4A	3172	genome.wustl.edu	37	chr20	43034754	43034754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ccaacagcctgggtgtcagcGccctgtgtgccatctgcggg	14	14	2	0	rs376906221		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr20:43034754G>A	ENST00000316099.4	+	2	261	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	HNF4A_ENST00000457232.1_Missense_Mutation_p.A36T|HNF4A_ENST00000609795.1_Missense_Mutation_p.A36T|HNF4A_ENST00000316673.4_Missense_Mutation_p.A36T|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.A58T|HNF4A_ENST00000415691.2_Missense_Mutation_p.A58T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	58					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGTGTCAGCGCCCTGTGTGC	0.627																																					Colon(79;2 1269 8820 14841 52347)												0									THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	109	109	109		172,106,106,106,172,172	4.2	1	20		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	HNF4A	NM_000457.3,NM_001030003.1,NM_001030004.1,NM_175914.3,NM_178849.1,NM_178850.1	58,58,58,58,58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	58/475,36/443,36/396,36/453,58/465,58/418	43034754	2,13004	2203	4300	6503	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.172G>A	20.37:g.43034754G>A	ENSP00000312987:p.Ala58Thr		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.A58T	ENST00000316099.4	37	c.172	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	g	11.32	1.603231	0.28534	2.27E-4	1.16E-4	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.17	4.16	0.48862	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.284775	0.39210	N	0.001423	D	0.89774	0.6812	N	0.13098	0.295	0.33681	D	0.612156	B;B;B;B;B;B;B	0.14438	0.006;0.001;0.0;0.005;0.003;0.002;0.01	B;B;B;B;B;B;B	0.19391	0.025;0.003;0.003;0.004;0.009;0.005;0.013	D	0.86719	0.1941	10	0.18276	T	0.48	.	9.1934	0.37213	0.1461:0.1378:0.716:0.0	.	51;58;58;58;36;36;36	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	T	36;36;58;58;88;58	ENSP00000315180:A36T;ENSP00000396216:A36T;ENSP00000312987:A58T;ENSP00000410911:A58T;ENSP00000412111:A58T	ENSP00000312987:A58T	A	+	1	0	HNF4A	42468168	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	4.220000	0.58567	2.414000	0.81942	0.645000	0.84053	GCC	HNF4A	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.627	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	G			43034754	1	no_errors	ENST00000316099	ensembl	human	known	70_37	missense	SNP	0.922	A	A	43034754	G	A	43034754	3	1	8	1	0	0	0	0	1	0	0	0	7273	1087	38	2	231	2	HNF4A	20	43034754	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	40623663	43034754	19990766	130	811										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47592587	47592587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	acggatcaggaaataggggaTgggaaaggccttgacatggc	16	6	1	1	rs142912624		TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr20:47592587T>C	ENST00000371917.4	+	14	1809	c.1809T>C	c.(1807-1809)gaT>gaC	p.D603D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	603					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAATAGGGGATGGGAAAGGCC	0.532																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0								T		3,4403	6.2+/-15.9	0,3,2200	100	79	86		1809	-7.6	0.9	20	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	ARFGEF2	NM_006420.2		0,3,6500	CC,CT,TT		0.0,0.0681,0.0231		603/1786	47592587	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1809T>C	20.37:g.47592587T>C			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.D603	ENST00000371917.4	37	c.1809	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold		0.532	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	T	NM_006420		47592587	1	no_errors	ENST00000371917	ensembl	human	known	70_37	silent	SNP	0.002	C	C	47592587	T	C	47592587	2	2	8	1	0	0	0	0	0	0	0	1	853	1461	51	5		5	ARFGEF2	20	47592587	Silent	SNP	T	TCGA-C5-A1BJ-01A-11D-A13W-08	4557833	47592587	15432933	131	812										
B4GALT5	9334	genome.wustl.edu	37	chr20	48252850	48252850	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aaacgtacattctctcctctCagtactcgttcacctgagcc	5	15	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr20:48252850C>G	ENST00000371711.4	-	9	1353	c.1166G>C	c.(1165-1167)tGa>tCa	p.*389S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	0					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TCTCTCCTCTCAGTACTCGTT	0.473																																																	0													206	175	186					20																	48252850		2203	4300	6503	SO:0001578	stop_lost	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1166G>C	20.37:g.48252850C>G			E1P625|Q2M394|Q9UJQ8	Nonstop_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.*389S	ENST00000371711.4	37	c.1166	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295205	0.40594	.	.	ENSG00000158470	ENST00000371711	.	.	.	5.51	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6877	0.12765	0.0:0.4902:0.0:0.5098	.	.	.	.	S	389	.	.	X	-	2	2	B4GALT5	47686257	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	1.829000	0.39121	1.160000	0.42584	0.557000	0.71058	TGA	B4GALT5	-	NULL		0.473	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	C	NM_004776		48252850	-1	no_errors	ENST00000371711	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	48252850	C	G	48252850	4	3	8	1	0	0	0	0	0	0	0	0	1275	837	29	1	4	1	B4GALT5	20	48252850	Nonstop_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	660263	48252850	14772670	132	813										
NCAM2	4685	genome.wustl.edu	37	chr21	22710717	22710717	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tattctttacagtacagcctCacataatacagcttaaaaat	3	9	2	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr21:22710717C>T	ENST00000400546.1	+	8	1156	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	NCAM2_ENST00000535285.1_Missense_Mutation_p.H328Y|NCAM2_ENST00000284894.7_Missense_Mutation_p.H161Y	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	303	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTACAGCCTCACATAATACA	0.363																																																	0													53	52	53					21																	22710717		1840	4081	5921	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.907C>T	21.37:g.22710717C>T	ENSP00000383392:p.His303Tyr		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	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,prints_Neural_cell_adh	p.H303Y	ENST00000400546.1	37	c.907	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106725	0.77096	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.60040	0.22;0.32;1.34	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042474	0.85682	D	0.000000	T	0.66317	0.2777	L	0.38692	1.165	0.54753	D	0.999987	D;P;P	0.59767	0.986;0.796;0.647	P;P;B	0.59357	0.856;0.674;0.322	T	0.67738	-0.5593	10	0.72032	D	0.01	-16.9086	18.6141	0.91296	0.0:1.0:0.0:0.0	.	328;161;303	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	Y	303;161;328	ENSP00000383392:H303Y;ENSP00000284894:H161Y;ENSP00000441887:H328Y	ENSP00000284894:H161Y	H	+	1	0	NCAM2	21632588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.141000	0.58038	2.736000	0.93811	0.591000	0.81541	CAC	NCAM2	-	pfscan_Ig-like,prints_Neural_cell_adh		0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22710717	1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22710717	C	T	22710717	3	4	8	1	0	0	0	0	1	0	0	0	10227	826	29	1	937	1	NCAM2	21	22710717	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		22710717	25419178	133	814										
GGT1	2678	genome.wustl.edu	37	chr22	25007114	25007114	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gtgctggtcattgtcggcctCtgtctctggctgccctcagc	12	14	4	0			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr22:25007114C>T	ENST00000400382.1	+	5	821	c.66C>T	c.(64-66)ctC>ctT	p.L22L	GGT1_ENST00000406383.2_Silent_p.L22L|GGT1_ENST00000400380.1_Silent_p.L22L|GGT1_ENST00000248923.4_Silent_p.L22L|GGT1_ENST00000400383.1_Silent_p.L22L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	22					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTGTCGGCCTCTGTCTCTGGC	0.612																																																	0													13	13	13					22																	25007114		1976	4135	6111	SO:0001819	synonymous_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.66C>T	22.37:g.25007114C>T			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.L22	ENST00000400382.1	37	c.66	CCDS42992.1	22																																																																																			GGT1	-	NULL		0.612	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	C	NM_013430		25007114	1	no_errors	ENST00000248923	ensembl	human	known	70_37	silent	SNP	0.171	T	T	25007114	C	T	25007114	2	4	8	1	0	0	0	0	0	0	0	1	6380	900	32	1		1	GGT1	22	25007114	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08		25007114	26297452	134	815										
SGSM1	129049	genome.wustl.edu	37	chr22	25294203	25294203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tggatgacaggcagagcagcGaggccaccacatctcaggat	13	11	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr22:25294203G>A	ENST00000400359.4	+	20	2459	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.E763K	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	818	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGCAGCGAGGCCACCAC	0.637																																																	0													33	41	38					22																	25294203		2188	4289	6477	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2452G>A	22.37:g.25294203G>A	ENSP00000383212:p.Glu818Lys		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.E818K	ENST00000400359.4	37	c.2452	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806429	0.31961	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06849	3.26;3.25	5.24	1.93	0.25924	Rab-GAP/TBC domain (2);	0.855129	0.10273	U	0.694579	T	0.02571	0.0078	N	0.04636	-0.2	0.29536	N	0.85245	P;P;B;P	0.44429	0.693;0.835;0.236;0.802	B;B;B;B	0.31016	0.057;0.123;0.017;0.084	T	0.29212	-1.0019	10	0.13853	T	0.58	-21.048	6.601	0.22701	0.1663:0.3015:0.5322:0.0	.	763;818;835;818	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	K	818;763;818	ENSP00000383211:E763K;ENSP00000383212:E818K	ENSP00000383211:E763K	E	+	1	0	SGSM1	23624203	0.000000	0.05858	0.989000	0.46669	0.928000	0.56348	0.064000	0.14437	0.706000	0.31912	-0.274000	0.10170	GAG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.637	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25294203	1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	0.823	A	A	25294203	G	A	25294203	3	1	8	1	0	0	0	0	1	0	0	0	14252	1059	37	1	2530	1	SGSM1	22	25294203	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	287089	25294203	26010363	135	816										
GAS2L1	10634	genome.wustl.edu	37	chr22	29704119	29704119	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gcagacccagtggcgggcatCgcgggctcggcggccaagag	18	13	0	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr22:29704119C>T	ENST00000406549.3	+	2	174	c.24C>T	c.(22-24)atC>atT	p.I8I	GAS2L1_ENST00000360113.2_Silent_p.I8I|GAS2L1_ENST00000407854.1_Silent_p.I8I|GAS2L1_ENST00000471961.1_Silent_p.I8I|GAS2L1_ENST00000407647.2_Silent_p.I8I|GAS2L1_ENST00000403764.1_Silent_p.I8I|GAS2L1_ENST00000341313.6_Silent_p.I8I	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	8					cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						TGGCGGGCATCGCGGGCTCGG	0.647																																																	0													14	15	15					22																	29704119		2185	4283	6468	SO:0001819	synonymous_variant	10634			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.24C>T	22.37:g.29704119C>T			B5MCR7|Q53EN7|Q92640|Q9BUY9	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.I8	ENST00000406549.3	37	c.24		22																																																																																			GAS2L1	-	NULL		0.647	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	GAS2L1	HGNC	protein_coding	OTTHUMT00000321365.1	C	NM_006478		29704119	1	no_errors	ENST00000403764	ensembl	human	known	70_37	silent	SNP	0.990	T	T	29704119	C	T	29704119	2	4	8	1	0	0	0	0	0	0	0	1	6265	874	31	1		1	GAS2L1	22	29704119	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	4409916	29704119	21600447	136	817										
C22orf30	253143	genome.wustl.edu	37	chr22	32109761	32109761	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ctctggtaaccaactcctcaGattgctccccaacagttaag	6	14	2	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr22:32109761G>C	ENST00000327423.6	-	4	4253	c.4064C>G	c.(4063-4065)tCt>tGt	p.S1355C	PRR14L_ENST00000397493.2_Missense_Mutation_p.S1355C|PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.S1355C	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1355										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAACTCCTCAGATTGCTCCCC	0.453																																																	0													110	94	99					22																	32109761		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.4064C>G	22.37:g.32109761G>C	ENSP00000331845:p.Ser1355Cys		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.S1355C	ENST00000327423.6	37	c.4064	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519271	0.64634	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.08193	3.12;3.14;3.12	5.36	5.36	0.76844	.	1.196100	0.06216	N	0.685918	T	0.24470	0.0593	L	0.53249	1.67	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66847	0.947;0.935;0.947	T	0.16719	-1.0393	9	.	.	.	-2.2412	9.5148	0.39098	0.1001:0.0:0.8999:0.0	.	1355;1355;1355	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	C	1355	ENSP00000380630:S1355C;ENSP00000331845:S1355C;ENSP00000388314:S1355C	.	S	-	2	0	PRR14L	30439761	0.036000	0.19791	0.008000	0.14137	0.358000	0.29455	2.715000	0.47210	2.511000	0.84671	0.650000	0.86243	TCT	PRR14L	-	NULL		0.453	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32109761	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.011	C	C	32109761	G	C	32109761	3	2	8	1	0	0	0	0	1	0	0	0	2147	942	33	1	2415	1	C22orf30	22	32109761	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	2405642	32109761	19194805	137	818										
CYB5R3	1727	genome.wustl.edu	37	chr22	43027454	43027454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	cgccgggtgtcatggctgatGatctggagagaggcccaaag	16	9	2	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr22:43027454G>C	ENST00000352397.5	-	3	408	c.156C>G	c.(154-156)atC>atG	p.I52M	CYB5R3_ENST00000407332.1_Missense_Mutation_p.I29M|CYB5R3_ENST00000396303.3_Missense_Mutation_p.I29M|CYB5R3_ENST00000402438.1_Missense_Mutation_p.I29M|CYB5R3_ENST00000361740.4_Missense_Mutation_p.I85M|CYB5R3_ENST00000407623.3_Missense_Mutation_p.I29M	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	52	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	CATGGCTGATGATCTGGAGAG	0.672																																																	0													79	87	85					22																	43027454		1807	3377	5184	SO:0001583	missense	1727			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.156C>G	22.37:g.43027454G>C	ENSP00000338461:p.Ile52Met		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.I85M	ENST00000352397.5	37	c.255	CCDS33658.1	22	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223381	0.39300	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	3.23	-0.48	0.12085	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.960400	0.08572	N	0.925963	D	0.85414	0.5691	M	0.71296	2.17	0.27111	N	0.962372	P;B	0.42375	0.778;0.017	P;B	0.50791	0.65;0.267	T	0.74331	-0.3700	10	0.52906	T	0.07	-5.2231	1.2597	0.01999	0.2298:0.3389:0.2809:0.1504	.	85;52	B7Z7L3;P00387	.;NB5R3_HUMAN	M	85;29;52;29;29;29;29	ENSP00000354468:I85M;ENSP00000379597:I29M;ENSP00000338461:I52M;ENSP00000384834:I29M;ENSP00000384457:I29M;ENSP00000385679:I29M;ENSP00000403439:I29M	ENSP00000338461:I52M	I	-	3	3	CYB5R3	41357398	0.042000	0.20092	0.671000	0.29857	0.880000	0.50808	-0.067000	0.11579	-0.006000	0.14370	0.455000	0.32223	ATC	CYB5R3	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.672	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R3	HGNC	protein_coding	OTTHUMT00000320439.1	G			43027454	-1	no_errors	ENST00000361740	ensembl	human	known	70_37	missense	SNP	0.772	C	C	43027454	G	C	43027454	3	2	8	1	0	0	0	0	1	0	0	0	4133	1280	45	1	777	1	CYB5R3	22	43027454	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	10917693	43027454	8277112	138	819										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50657188	50657188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ggcgttgggggcaaacacctCgggcaggtacttgagagcga	17	9	0	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chr22:50657188C>T	ENST00000248846.5	-	21	4869	c.4765G>A	c.(4765-4767)Gag>Aag	p.E1589K	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1589					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCAAACACCTCGGGCAGGTAC	0.672																																																	0													67	60	62					22																	50657188		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4765G>A	22.37:g.50657188C>T	ENSP00000248846:p.Glu1589Lys		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.E1589K	ENST00000248846.5	37	c.4765	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997818	0.93227	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.07908	3.15;3.15	4.63	4.63	0.57726	.	0.154950	0.56097	D	0.000028	T	0.26011	0.0634	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.963;0.977;0.961	T	0.00697	-1.1605	10	0.38643	T	0.18	.	17.2705	0.87101	0.0:1.0:0.0:0.0	.	1581;1589;1589	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	K	1589;275	ENSP00000248846:E1589K;ENSP00000405979:E275K	ENSP00000248846:E1589K	E	-	1	0	TUBGCP6	48999315	1.000000	0.71417	0.976000	0.42696	0.900000	0.52787	7.430000	0.80321	2.403000	0.81681	0.591000	0.81541	GAG	TUBGCP6	-	pfam_Spc97_Spc98		0.672	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	C	NM_020461		50657188	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50657188	C	T	50657188	3	4	8	1	0	0	0	0	1	0	0	0	16801	893	31	1	714	1	TUBGCP6	22	50657188	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	7629734	50657188	647378	139	820										
SFRS17A	8227	genome.wustl.edu	37	chrX	1719891	1719891	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ccccggccggtgcccccaagGagagcccggcccacccagag	13	20	0	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:1719891G>C	ENST00000313871.3	+	5	1688	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	498					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGCCCCCAAGGAGAGCCCGGC	0.716																																																	0									,GLN/GLU	0,4378		0,0,2189	13	15	14		,1492	0.6	0	X		14	2,8528		0,2,4263	no	intron,missense	ASMT,AKAP17A	NM_004043.2,NM_005088.2	,29	0,2,6452	CC,CG,GG		0.0234,0.0,0.0155	,probably-damaging	,498/696	1719891	2,12906	2189	4265	6454	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1492G>C	X.37:g.1719891G>C	ENSP00000324827:p.Glu498Gln		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	NULL	p.E498Q	ENST00000313871.3	37	c.1492	CCDS14116.1	X	.	.	.	.	.	.	.	.	.	.	g	12.06	1.825807	0.32237	0.0	2.34E-4	ENSG00000197976	ENST00000313871	T	0.52754	0.65	1.56	0.551	0.17225	.	0.000000	0.36234	U	0.002705	T	0.53206	0.1782	.	.	.	0.09310	N	0.999998	D	0.65815	0.995	D	0.71184	0.972	T	0.38308	-0.9667	9	0.26408	T	0.33	.	6.1515	0.20314	0.2962:0.0:0.7038:0.0	.	498	Q02040	AK17A_HUMAN	Q	498	ENSP00000324827:E498Q	ENSP00000324827:E498Q	E	+	1	0	AKAP17A	1679891	0.082000	0.21442	0.043000	0.18650	0.200000	0.23975	2.775000	0.47702	0.533000	0.28675	0.367000	0.22151	GAG	AKAP17A	-	NULL		0.716	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	G	NM_005088		1719891	1	no_errors	ENST00000313871	ensembl	human	known	70_37	missense	SNP	0.001	C	C	1719891	G	C	1719891	3	2	8	1	0	0	0	0	1	0	0	0	14203	1175	41	1	1506	1	SFRS17A	23	1719891	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08		1719891	153550669	140	821										
USP11	8237	genome.wustl.edu	37	chrX	47101546	47101546	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tctgtgatcgtggacactttCcacggcctcttcaagtccac	8	14	3	1			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:47101546C>T	ENST00000218348.3	+	10	1374	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	USP11_ENST00000377107.2_Silent_p.F415F	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	458	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGGACACTTTCCACGGCCTCT	0.562																																																	0													114	82	93					X																	47101546		2203	4300	6503	SO:0001819	synonymous_variant	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1374C>T	X.37:g.47101546C>T			B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.F458	ENST00000218348.3	37	c.1374	CCDS14277.1	X																																																																																			USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		C	NM_004651		47101546	1	no_errors	ENST00000218348	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47101546	C	T	47101546	2	4	8	1	0	0	0	0	0	0	0	1	17073	854	30	1		1	USP11	23	47101546	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	45381655	47101546	108169014	141	822										
ZNF182	7569	genome.wustl.edu	37	chrX	47837064	47837064	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tactcagatgaagtatgtttCcaaactcatgacagtcacga	7	9	3	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:47837064C>G	ENST00000396965.1	-	7	772	c.422G>C	c.(421-423)gGa>gCa	p.G141A	ZNF182_ENST00000305127.6_Missense_Mutation_p.G141A|ZNF182_ENST00000376943.3_Missense_Mutation_p.G122A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AAGTATGTTTCCAAACTCATG	0.353																																																	0													105	91	96					X																	47837064		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.422G>C	X.37:g.47837064C>G	ENSP00000380165:p.Gly141Ala		A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G141A	ENST00000396965.1	37	c.422	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	C	0.697	-0.792121	0.02884	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07216	3.21;3.22;3.22	3.84	0.998	0.19857	.	.	.	.	.	T	0.10594	0.0259	M	0.64997	1.995	0.09310	N	1	P;P;B	0.42248	0.461;0.774;0.0	B;B;B	0.43155	0.311;0.41;0.001	T	0.18116	-1.0347	9	0.48119	T	0.1	.	4.7396	0.13007	0.0:0.5958:0.1795:0.2247	.	121;122;141	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	A	122;141;141	ENSP00000366142:G122A;ENSP00000380165:G141A;ENSP00000306351:G141A	ENSP00000306351:G141A	G	-	2	0	ZNF182	47722008	0.206000	0.23470	0.017000	0.16124	0.556000	0.35491	1.062000	0.30555	0.077000	0.16863	0.523000	0.50628	GGA	ZNF182	-	NULL		0.353	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	C	NM_006962		47837064	-1	no_errors	ENST00000305127	ensembl	human	known	70_37	missense	SNP	0.000	G	G	47837064	C	G	47837064	3	3	8	1	0	0	0	0	1	0	0	0	17780	855	30	1	1501	1	ZNF182	23	47837064	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	735518	47837064	107433496	142	823										
SHROOM4	57477	genome.wustl.edu	37	chrX	50341494	50341494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	agccctcgctgggcctcccgCaagacagaaagttttctgct	10	14	1	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:50341494C>T	ENST00000289292.7	-	8	4267	c.3984G>A	c.(3982-3984)ttG>ttA	p.L1328L	SHROOM4_ENST00000483955.1_5'Flank|SHROOM4_ENST00000460112.3_Silent_p.L1212L|SHROOM4_ENST00000376020.2_Silent_p.L1328L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1328	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGCCTCCCGCAAGACAGAAA	0.478																																																	0													29	23	25					X																	50341494		2203	4300	6503	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3984G>A	X.37:g.50341494C>T			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1328	ENST00000289292.7	37	c.3984	CCDS35277.1	X																																																																																			SHROOM4	-	pfam_ASD2		0.478	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50341494	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50341494	C	T	50341494	2	4	8	1	0	0	0	0	0	0	0	1	14326	709	25	4		4	SHROOM4	23	50341494	Silent	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	2504430	50341494	104929066	143	824										
CYLC1	1538	genome.wustl.edu	37	chrX	83127936	83127936	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	aagaaggccagaaaccagctCataaatggataaggcattct	9	8	2	2			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:83127936C>A	ENST00000329312.4	+	4	257	c.220C>A	c.(220-222)Cat>Aat	p.H74N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	74					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAACCAGCTCATAAATGGAT	0.358																																																	0													27	26	26					X																	83127936		2193	4293	6486	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.220C>A	X.37:g.83127936C>A	ENSP00000331556:p.His74Asn		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.H74N	ENST00000329312.4	37	c.220	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	0.693	-0.793852	0.02862	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.50277	0.75	4.58	-0.231	0.13086	.	.	.	.	.	T	0.34366	0.0895	L	0.34521	1.04	0.09310	N	1	P;P	0.40476	0.718;0.718	P;P	0.44359	0.447;0.447	T	0.20638	-1.0269	9	0.18710	T	0.47	-0.0291	4.4042	0.11400	0.0:0.4559:0.1589:0.3852	.	74;74	P35663;F5H4V5	CYLC1_HUMAN;.	N	74	ENSP00000331556:H74N	ENSP00000331556:H74N	H	+	1	0	CYLC1	83014592	0.000000	0.05858	0.035000	0.18076	0.012000	0.07955	-0.741000	0.04855	-0.334000	0.08463	-1.817000	0.00601	CAT	CYLC1	-	NULL		0.358	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	C	NM_021118		83127936	1	no_errors	ENST00000329312	ensembl	human	known	70_37	missense	SNP	0.018	A	A	83127936	C	A	83127936	3	1	8	1	0	0	0	0	1	0	0	0	4146	826	29	3	234	3	CYLC1	23	83127936	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	32786442	83127936	72142624	144	825										
RHOXF1	158800	genome.wustl.edu	37	chrX	119249758	119249759	+	Missense_Mutation	DNP	GA	GA	TG													0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	tagaacacggtgtcgtggacGagcgaacgcgccatggctgg							TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:119249758_119249759GA>TG	ENST00000217999.2	-	1	88_89	c.14_15TC>CA	c.(13-15)cTC>cCA	p.L5P	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	5					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TGTCGTGGACGAGCGAACGCGC	0.599																																																	0																																										SO:0001583	missense	158800				CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.14_15delinsTG	X.37:g.119249758_119249759delinsTG	ENSP00000217999:p.Leu5Pro		O95030|Q3SYE0	Silent|Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.L5|p.L5P	ENST00000217999.2	37	c.15|c.14	CCDS14593.1	X																																																																																			RHOXF1	-	NULL		0.599	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF1	HGNC	protein_coding	OTTHUMT00000058083.2	G|A	NM_139282		119249758|119249759	-1	no_errors	ENST00000217999	ensembl	human	known	70_37	silent|missense	SNP	0.000	T|G	TG	119249759	GA	TG	119249758	3	4	8	1	0	0	0	0	1	0	0	0	13377	1045	37	3	551	3	RHOXF1	23	119249758	Missense_Mutation	DNP	GA	TCGA-C5-A1BJ-01A-11D-A13W-08	36121822	119249758	36020802	145	826										
FATE1	89885	genome.wustl.edu	37	chrX	150884628	150884628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	ccaacaccaaggcggagatgGaaatgtccctggcagaagaa	12	10	0	3			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:150884628G>A	ENST00000370350.3	+	1	122	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	13						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGAGATGGAAATGTCCCT	0.537																																																	0													85	64	72					X																	150884628		2030	3766	5796	SO:0001583	missense	89885			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.37G>A	X.37:g.150884628G>A	ENSP00000359375:p.Glu13Lys			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.E13K	ENST00000370350.3	37	c.37	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996801	0.54147	.	.	ENSG00000147378	ENST00000370350;ENST00000417321	T;T	0.64260	0.31;-0.09	4.18	2.39	0.29439	.	0.777035	0.11327	N	0.575438	T	0.60637	0.2284	L	0.27053	0.805	0.09310	N	1	D	0.61697	0.99	P	0.60609	0.877	T	0.48080	-0.9066	10	0.66056	D	0.02	.	4.8205	0.13389	0.1215:0.2161:0.6624:0.0	.	13	Q969F0	FATE1_HUMAN	K	13;5	ENSP00000359375:E13K;ENSP00000400493:E5K	ENSP00000359375:E13K	E	+	1	0	FATE1	150635284	0.012000	0.17670	0.001000	0.08648	0.012000	0.07955	0.949000	0.29109	0.521000	0.28445	0.600000	0.82982	GAA	FATE1	-	NULL		0.537	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	G	NM_033085		150884628	1	no_errors	ENST00000370350	ensembl	human	known	70_37	missense	SNP	0.001	A	A	150884628	G	A	150884628	3	1	8	1	0	0	0	0	1	0	0	0	5711	1175	41	1	39	1	FATE1	23	150884628	Missense_Mutation	SNP	G	TCGA-C5-A1BJ-01A-11D-A13W-08	31634870	150884628	4385932	146	827										
DKC1	1736	genome.wustl.edu	37	chrX	154004501	154004501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.489795918367347	72	8.07666104253861e-27	4.05453087409783	5.65006385696041	2.90574712643678	0.073605952231994	0.206950068594302	54	gtgaaagtgacgagactcctCcagcagctcctcagttgatc	10	12	1	4			TCGA-C5-A1BJ-01A-11D-A13W-08	TCGA-C5-A1BJ-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fbd78148-6bfc-4713-b46d-3a4785e01590	029ff7f2-694b-410e-a81d-f5a32151b495	g.chrX:154004501C>T	ENST00000369550.5	+	14	1588	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	460	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGAGACTCCTCCAGCAGCTCC	0.493									Congenital Dyskeratosis																																								0													69	62	64					X																	154004501		2203	4300	6503	SO:0001583	missense	1736	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1378C>T	X.37:g.154004501C>T	ENSP00000358563:p.Pro460Ser		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.P460S	ENST00000369550.5	37	c.1378	CCDS14761.1	X	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248980	0.22880	.	.	ENSG00000130826	ENST00000369550	D	0.96967	-4.19	4.63	2.78	0.32641	.	2.268440	0.01842	N	0.035412	D	0.90930	0.7149	N	0.11560	0.145	0.22851	N	0.998653	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.001	T	0.82368	-0.0492	10	0.23891	T	0.37	-0.9114	7.2962	0.26395	0.0:0.7349:0.1661:0.099	.	460;460	A8MUT5;O60832	.;DKC1_HUMAN	S	460	ENSP00000358563:P460S	ENSP00000358563:P460S	P	+	1	0	DKC1	153657695	0.073000	0.21202	0.006000	0.13384	0.121000	0.20230	1.134000	0.31442	0.432000	0.26286	0.600000	0.82982	CCA	DKC1	-	NULL		0.493	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	C	NM_001363		154004501	1	no_errors	ENST00000369550	ensembl	human	known	70_37	missense	SNP	0.169	T	T	154004501	C	T	154004501	3	4	8	1	0	0	0	0	1	0	0	0	4552	855	30	1	1432	1	DKC1	23	154004501	Missense_Mutation	SNP	C	TCGA-C5-A1BJ-01A-11D-A13W-08	3119873	154004501	1266059	147	828										
CASZ1	54897	genome.wustl.edu	37	chr1	10720517	10720517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gccagctcgtcccgcgtgttCtggtcatcatagccaaacat	9	14	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:10720517C>T	ENST00000377022.3	-	6	899	c.582G>A	c.(580-582)caG>caA	p.Q194Q	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.Q194Q	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	194					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCGCGTGTTCTGGTCATCAT	0.652																																																	0													36	39	38					1																	10720517		2203	4300	6503	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.582G>A	1.37:g.10720517C>T			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q194	ENST00000377022.3	37	c.582	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	C	NM_017766		10720517	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10720517	C	T	10720517	2	4	9	1	0	0	0	0	0	0	0	1	2690	912	32	1		1	CASZ1	1	10720517	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		10720517	238530104	1	829										
DNAJC8	22826	genome.wustl.edu	37	chr1	28555487	28555487	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggacgggtcagtctttcaatCtgatttttcgaagttagaac	10	7	4	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:28555487C>G	ENST00000263697.4	-	2	152	c.126G>C	c.(124-126)caG>caC	p.Q42H	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTTCAATCTGATTTTTCG	0.378																																																	0													122	107	112					1																	28555487		1832	4097	5929	SO:0001583	missense	22826			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"Heat shock proteins / DNAJ (HSP40)"	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.126G>C	1.37:g.28555487C>G	ENSP00000263697:p.Gln42His		B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q42H	ENST00000263697.4	37	c.126	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755026	0.49362	.	.	ENSG00000126698	ENST00000263697	T	0.23348	1.91	5.16	2.06	0.26882	Heat shock protein DnaJ, N-terminal (2);	0.057555	0.64402	N	0.000001	T	0.27349	0.0671	M	0.73430	2.235	0.80722	D	1	P	0.35468	0.503	B	0.34452	0.183	T	0.08493	-1.0719	10	0.66056	D	0.02	-18.4717	9.1007	0.36667	0.0:0.7347:0.0:0.2653	.	42	O75937	DNJC8_HUMAN	H	42	ENSP00000263697:Q42H	ENSP00000263697:Q42H	Q	-	3	2	DNAJC8	28428074	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.331000	0.33793	0.476000	0.27440	-0.367000	0.07326	CAG	DNAJC8	-	superfamily_DnaJ_N		0.378	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1	C	NM_014280		28555487	-1	no_errors	ENST00000263697	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28555487	C	G	28555487	3	3	9	1	0	0	0	0	1	0	0	0	4665	912	32	1	667	1	DNAJC8	1	28555487	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	17834970	28555487	220695134	2	830										
CSMD2	114784	genome.wustl.edu	37	chr1	34076831	34076831	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttgggctcggtggagaagttCaggaactggatgtgagctcc	16	7	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:34076831C>T	ENST00000373380.1	-	20	2992	c.2772G>A	c.(2770-2772)ctG>ctA	p.L924L	CSMD2_ENST00000373381.4_Silent_p.L2051L|CSMD2_ENST00000373377.1_Silent_p.L150L|CSMD2_ENST00000373388.2_Silent_p.L150L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2011	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGAGAAGTTCAGGAACTGGA	0.547																																																	0													85	89	88					1																	34076831		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2772G>A	1.37:g.34076831C>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2051	ENST00000373380.1	37	c.6153		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.547	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34076831	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34076831	C	T	34076831	2	4	9	1	0	0	0	0	0	0	0	1	3950	813	29	1		1	CSMD2	1	34076831	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	5521344	34076831	215173790	3	831										
TIE1	7075	genome.wustl.edu	37	chr1	43783303	43783303	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttctgtgcaaattggggcatCaccccaacatcatcaacctc	6	14	4	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:43783303C>A	ENST00000372476.3	+	16	2768	c.2689C>A	c.(2689-2691)Cac>Aac	p.H897N	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.H542N	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGGGGCATCACCCCAACAT	0.507																																																	0													139	153	148					1																	43783303		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2689C>A	1.37:g.43783303C>A	ENSP00000361554:p.His897Asn		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H897N	ENST00000372476.3	37	c.2689	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222807	0.79464	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77877	-1.13;-1.13	5.66	4.74	0.60224	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42172	D	0.000742	D	0.87018	0.6073	M	0.81341	2.54	0.80722	D	1	D;D;D	0.60575	0.988;0.984;0.988	D;P;D	0.63033	0.91;0.88;0.91	D	0.88891	0.3346	10	0.87932	D	0	.	14.4637	0.67470	0.0:0.9292:0.0:0.0708	.	852;542;897	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	N	897;300;180;542	ENSP00000361554:H897N;ENSP00000411728:H542N	ENSP00000361553:H300N	H	+	1	0	TIE1	43555890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.388000	0.46506	0.655000	0.94253	CAC	TIE1	-	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,pfscan_Prot_kinase_cat_dom		0.507	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783303	1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43783303	C	A	43783303	3	1	9	1	0	0	0	0	1	0	0	0	15923	826	29	3	2751	3	TIE1	1	43783303	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	9706472	43783303	205467318	4	832										
TMEM59	9528	genome.wustl.edu	37	chr1	54497885	54497885	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccctgcttcttcatgatcttCagttttagatctaacaacca	4	12	5	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:54497885C>T	ENST00000234831.5	-	8	1159	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	TMEM59_ENST00000371344.1_Missense_Mutation_p.E173K|TMEM59_ENST00000470395.1_5'UTR|TMEM59_ENST00000371341.1_Missense_Mutation_p.E173K|TMEM59_ENST00000371348.1_Missense_Mutation_p.E173K	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	304					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCATGATCTTCAGTTTTAGAT	0.348																																																	0													89	89	89					1																	54497885		2202	4300	6502	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.910G>A	1.37:g.54497885C>T	ENSP00000234831:p.Glu304Lys		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.E304K	ENST00000234831.5	37	c.910	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104696	0.56291	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341	T	0.45276	0.9	5.16	5.16	0.70880	.	0.191408	0.44902	D	0.000401	T	0.38214	0.1032	L	0.51422	1.61	0.80722	D	1	B;B	0.33694	0.421;0.063	B;B	0.29785	0.107;0.026	T	0.15896	-1.0421	10	0.19147	T	0.46	.	18.8415	0.92186	0.0:1.0:0.0:0.0	.	305;304	D3DQ48;Q9BXS4	.;TMM59_HUMAN	K	173;173;304;173	ENSP00000234831:E304K	ENSP00000234831:E304K	E	-	1	0	TMEM59	54270473	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.263000	0.65507	2.672000	0.90937	0.650000	0.86243	GAA	TMEM59	-	NULL		0.348	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	C	NM_004872		54497885	-1	no_errors	ENST00000234831	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54497885	C	T	54497885	3	4	9	1	0	0	0	0	1	0	0	0	16215	835	29	1	65	1	TMEM59	1	54497885	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	10714582	54497885	194752736	5	833										
MYSM1	114803	genome.wustl.edu	37	chr1	59147737	59147737	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aactattattccccttccatCatgcttgttgcagtttttaa	4	10	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:59147737C>G	ENST00000472487.1	-	8	1018	c.979G>C	c.(979-981)Gat>Cat	p.D327H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	327					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CCCCTTCCATCATGCTTGTTG	0.338																																																	0													120	110	113					1																	59147737		1833	4094	5927	SO:0001583	missense	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.979G>C	1.37:g.59147737C>G	ENSP00000418734:p.Asp327His		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom	p.D327H	ENST00000472487.1	37	c.979	CCDS41343.1	1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619619	0.03663	.	.	ENSG00000162601	ENST00000472487	T	0.22945	1.93	4.64	-2.32	0.06745	.	1.544640	0.02962	N	0.143286	T	0.15132	0.0365	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	10	0.37606	T	0.19	3.6115	1.6909	0.02852	0.1412:0.4331:0.1166:0.3091	.	327	Q5VVJ2	MYSM1_HUMAN	H	327	ENSP00000418734:D327H	ENSP00000418734:D327H	D	-	1	0	MYSM1	58920325	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	0.382000	0.20635	-0.692000	0.05128	0.585000	0.79938	GAT	MYSM1	-	NULL		0.338	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	C	XM_055481		59147737	-1	no_errors	ENST00000472487	ensembl	human	known	70_37	missense	SNP	0.000	G	G	59147737	C	G	59147737	3	3	9	1	0	0	0	0	1	0	0	0	10124	826	29	1	1559	1	MYSM1	1	59147737	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	4649852	59147737	190102884	6	834										
EVI5	7813	genome.wustl.edu	37	chr1	93159886	93159886	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccttccatgtcaagttgcatCagttctgcctgattcatctg	7	12	5	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:93159886C>G	ENST00000370331.1	-	8	1110	c.1101G>C	c.(1099-1101)ctG>ctC	p.L367L	EVI5_ENST00000540033.1_Silent_p.L367L|EVI5_ENST00000543509.1_Silent_p.L367L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	367	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CAAGTTGCATCAGTTCTGCCT	0.348																																																	0													100	98	99					1																	93159886		2203	4300	6503	SO:0001819	synonymous_variant	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1101G>C	1.37:g.93159886C>G			A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L367	ENST00000370331.1	37	c.1101	CCDS30774.1	1																																																																																			EVI5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom		0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	C	NM_005665		93159886	-1	no_errors	ENST00000543509	ensembl	human	known	70_37	silent	SNP	0.999	G	G	93159886	C	G	93159886	2	3	9	1	0	0	0	0	0	0	0	1	5301	813	29	1		1	EVI5	1	93159886	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	34012149	93159886	156090735	7	835										
RNF115	27246	genome.wustl.edu	37	chr1	145650536	145650536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	taccacaacaacacattttgCagaggtaagttttcctttag	6	9	0	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:145650536C>T	ENST00000369291.5	+	3	419	c.215C>T	c.(214-216)gCa>gTa	p.A72V		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						ACACATTTTGCAGAGGTAAGT	0.403																																																	0													130	128	128					1																	145650536		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.215C>T	1.37:g.145650536C>T	ENSP00000358297:p.Ala72Val			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A72V	ENST00000369291.5	37	c.215	CCDS922.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684741	0.47991	.	.	ENSG00000121848	ENST00000369291	T	0.11821	2.74	5.1	4.16	0.48862	.	0.260360	0.37136	N	0.002238	T	0.04407	0.0121	L	0.38175	1.15	0.40957	D	0.984599	B	0.26935	0.164	B	0.27608	0.081	T	0.26258	-1.0108	10	0.22109	T	0.4	-3.3977	10.6439	0.45608	0.1909:0.8091:0.0:0.0	.	72	Q9Y4L5	RN115_HUMAN	V	72	ENSP00000358297:A72V	ENSP00000358297:A72V	A	+	2	0	RNF115	144361893	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.763000	0.38461	1.319000	0.45190	0.655000	0.94253	GCA	RNF115	-	NULL		0.403	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF115	HGNC	protein_coding	OTTHUMT00000038554.2	C	NM_014455		145650536	1	no_errors	ENST00000369291	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145650536	C	T	145650536	3	4	9	1	0	0	0	0	1	0	0	0	13460	710	25	4	225	4	RNF115	1	145650536	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	52490650	145650536	103600085	8	836										
APH1A	51107	genome.wustl.edu	37	chr1	150241157	150241157	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acagtgatcaagaaaagcgcGaaggccgggccgaacgcgac	14	11	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:150241157G>A	ENST00000369109.3	-	1	242	c.54C>T	c.(52-54)ttC>ttT	p.F18F	APH1A_ENST00000360244.4_Silent_p.F18F|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000414276.2_Silent_p.F18F	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	18					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAAAGCGCGAAGGCCGGGC	0.652																																																	0													24	32	29					1																	150241157		1888	4088	5976	SO:0001819	synonymous_variant	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.54C>T	1.37:g.150241157G>A			B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	pfam_Aph-1	p.F18	ENST00000369109.3	37	c.54	CCDS41390.1	1																																																																																			APH1A	-	pfam_Aph-1		0.652	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150241157	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	silent	SNP	0.997	A	A	150241157	G	A	150241157	2	1	9	1	0	0	0	0	0	0	0	1	771	1049	37	1		1	APH1A	1	150241157	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	4590621	150241157	99009464	9	837										
ZNF687	57592	genome.wustl.edu	37	chr1	151259572	151259572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tcttcaagcagtctccagggCaccagagccctcttgcctcc	8	17	4	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:151259572C>T	ENST00000368879.2	+	2	903	c.805C>T	c.(805-807)Cac>Tac	p.H269Y		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	269	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTCCAGGGCACCAGAGCCC	0.617																																																	0													56	60	58					1																	151259572		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.805C>T	1.37:g.151259572C>T	ENSP00000357874:p.His269Tyr		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H269Y	ENST00000368879.2	37	c.805		1	.	.	.	.	.	.	.	.	.	.	C	2.117	-0.402286	0.04865	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00816	5.66;5.66;6.0	4.57	4.57	0.56435	.	0.503571	0.14882	N	0.292904	T	0.00496	0.0016	L	0.27053	0.805	0.31967	N	0.607666	P;P;P	0.46912	0.886;0.666;0.886	B;B;P	0.47251	0.359;0.139;0.542	T	0.60606	-0.7230	9	.	.	.	-12.6878	5.7318	0.18045	0.195:0.7075:0.0:0.0974	.	269;269;269	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	Y	269	ENSP00000336620:H269Y;ENSP00000319829:H269Y;ENSP00000357874:H269Y	.	H	+	1	0	ZNF687	149526196	0.193000	0.23313	0.995000	0.50966	0.224000	0.24922	1.909000	0.39917	2.385000	0.81259	0.462000	0.41574	CAC	ZNF687	-	NULL		0.617	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		C	NM_020832		151259572	1	no_errors	ENST00000324048	ensembl	human	known	70_37	missense	SNP	0.993	T	T	151259572	C	T	151259572	3	4	9	1	0	0	0	0	1	0	0	0	18122	710	25	4	807	4	ZNF687	1	151259572	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	1018415	151259572	97991049	10	838										
UBE2Q1	55585	genome.wustl.edu	37	chr1	154527964	154527964	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggatgctgagggaggttataGagtttacacaggtcggagat	16	4	0	3	rs371981564		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:154527964G>A	ENST00000292211.4	-	3	556	c.477C>T	c.(475-477)ctC>ctT	p.L159L	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	159					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTTATAGAGTTTACACA	0.532																																																	0													155	148	150					1																	154527964		2203	4300	6503	SO:0001819	synonymous_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.477C>T	1.37:g.154527964G>A			B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L159	ENST00000292211.4	37	c.477	CCDS1069.1	1																																																																																			UBE2Q1	-	NULL		0.532	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	G	NM_017582		154527964	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154527964	G	A	154527964	2	1	9	1	0	0	0	0	0	0	0	1	16900	929	33	1		1	UBE2Q1	1	154527964	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	3268392	154527964	94722657	11	839										
NAV1	89796	genome.wustl.edu	37	chr1	201757712	201757712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggagcaccctgtccctggccGagagacccaagggaatgatt	13	12	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:201757712G>A	ENST00000367296.4	+	10	3532	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	NAV1_ENST00000367297.4_Missense_Mutation_p.E1038K|NAV1_ENST00000295624.6_Missense_Mutation_p.E1038K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.E647K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1038					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTCCCTGGCCGAGAGACCCAA	0.617																																																	0													123	106	112					1																	201757712		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3112G>A	1.37:g.201757712G>A	ENSP00000356265:p.Glu1038Lys		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.E1038K	ENST00000367296.4	37	c.3112	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.582064|5.582064	0.96578|0.96578	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T|.	0.14391|.	2.65;2.66;2.51;2.65|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.110960|.	0.64402|.	D|.	0.000011|.	T|T	0.75867|0.75867	0.3908|0.3908	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;P;D;D;P|.	0.67145|.	0.986;0.921;0.996;0.975;0.954|.	P;B;P;B;B|.	0.62184|.	0.555;0.242;0.899;0.304;0.311|.	T|T	0.74917|0.74917	-0.3501|-0.3501	10|5	0.87932|.	D|.	0|.	-27.7916|-27.7916	18.7921|18.7921	0.91978|0.91978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1038;647;1038;546;1038|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	K|Q	1038;1038;1038;546;647|595	ENSP00000356265:E1038K;ENSP00000295624:E1038K;ENSP00000356266:E1038K;ENSP00000356264:E647K|.	ENSP00000295624:E1038K|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200024335|200024335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.777000|9.777000	0.99008|0.99008	2.526000|2.526000	0.85167|0.85167	0.561000|0.561000	0.74099|0.74099	GAG|CGA	NAV1	-	NULL		0.617	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201757712	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201757712	G	A	201757712	3	1	9	1	0	0	0	0	1	0	0	0	10206	1059	37	1	3207	1	NAV1	1	201757712	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	47229748	201757712	47492909	12	840										
LPGAT1	9926	genome.wustl.edu	37	chr1	211952327	211952327	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggtttgaatatctataggttCagctttgggataagctatcg	11	5	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:211952327C>T	ENST00000366997.4	-	6	1013	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	LPGAT1_ENST00000366996.1_Missense_Mutation_p.E263K	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	263					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TCTATAGGTTCAGCTTTGGGA	0.338																																																	0													174	178	177					1																	211952327		2203	4300	6503	SO:0001583	missense	9926			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"family with sequence similarity 34, member A"	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.787G>A	1.37:g.211952327C>T	ENSP00000355964:p.Glu263Lys		Q53YL2	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E263K	ENST00000366997.4	37	c.787	CCDS31018.1	1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118537	0.20877	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	T;T	0.29397	1.57;1.57	5.89	5.89	0.94794	.	0.209892	0.56097	D	0.000024	T	0.20292	0.0488	L	0.28115	0.83	0.43408	D	0.995548	B	0.22346	0.068	B	0.13407	0.009	T	0.04915	-1.0918	10	0.05959	T	0.93	-28.1621	15.763	0.78101	0.0:0.8644:0.1356:0.0	.	263	Q92604	LGAT1_HUMAN	K	263	ENSP00000355964:E263K;ENSP00000355963:E263K	ENSP00000355963:E263K	E	-	1	0	LPGAT1	210018950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.562000	0.45914	2.808000	0.96608	0.549000	0.68633	GAA	LPGAT1	-	NULL		0.338	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPGAT1	HGNC	protein_coding	OTTHUMT00000090150.1	C	NM_014873		211952327	-1	no_errors	ENST00000366996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	211952327	C	T	211952327	3	4	9	1	0	0	0	0	1	0	0	0	8937	835	29	1	337	1	LPGAT1	1	211952327	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	10194615	211952327	37298294	13	841										
RHOU	58480	genome.wustl.edu	37	chr1	228871718	228871718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccaccaacggctaccccaccGagtacatccctactgccttc	5	20	0	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:228871718G>A	ENST00000366691.3	+	1	895	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CTACCCCACCGAGTACATCCC	0.721																																																	0													21	25	23					1																	228871718		2201	4296	6497	SO:0001583	missense	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.229G>A	1.37:g.228871718G>A	ENSP00000355652:p.Glu77Lys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E77K	ENST00000366691.3	37	c.229	CCDS1575.1	1	.	.	.	.	.	.	.	.	.	.	.	10.55	1.382120	0.24944	.	.	ENSG00000116574	ENST00000366691	T	0.70399	-0.48	3.68	1.76	0.24704	Small GTP-binding protein domain (1);	0.293332	0.32015	N	0.006720	T	0.57946	0.2088	L	0.50847	1.595	0.44181	D	0.996993	B	0.21606	0.058	B	0.19148	0.024	T	0.51568	-0.8689	10	0.56958	D	0.05	.	3.8924	0.09125	0.2337:0.2002:0.5661:0.0	.	77	Q7L0Q8	RHOU_HUMAN	K	77	ENSP00000355652:E77K	ENSP00000355652:E77K	E	+	1	0	RHOU	226938341	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	3.600000	0.54052	0.229000	0.21039	-0.401000	0.06369	GAG	RHOU	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.721	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1	G	NM_021205		228871718	1	no_errors	ENST00000366691	ensembl	human	known	70_37	missense	SNP	0.999	A	A	228871718	G	A	228871718	3	1	9	1	0	0	0	0	1	0	0	0	13375	1059	37	1	231	1	RHOU	1	228871718	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	16919391	228871718	20378903	14	842										
EXOC8	149371	genome.wustl.edu	37	chr1	231472604	231472604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggggtggccctcgaggggcCgctgcctcctcctgctccct	14	17	0	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr1:231472604C>T	ENST00000360394.2	-	1	974	c.888G>A	c.(886-888)gcG>gcA	p.A296A	EXOC8_ENST00000366645.1_Silent_p.A292A|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	296					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCGAGGGGCCGCTGCCTCCT	0.557																																																	0													82	76	78					1																	231472604		2203	4300	6503	SO:0001819	synonymous_variant	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.888G>A	1.37:g.231472604C>T			B3KU33|Q5TE82	Silent	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A296	ENST00000360394.2	37	c.888	CCDS1593.1	1																																																																																			EXOC8	-	NULL		0.557	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		C	NM_175876		231472604	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	silent	SNP	0.002	T	T	231472604	C	T	231472604	2	4	9	1	0	0	0	0	0	0	0	1	5323	639	23	2		2	EXOC8	1	231472604	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	2600886	231472604	17778017	15	843										
PXDN	7837	genome.wustl.edu	37	chr2	1680739	1680739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctcaggcttggggttgccttCggctctgcaggtgaagtaca	14	10	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:1680739C>T	ENST00000252804.4	-	8	858	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	270	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGTTGCCTTCGGCTCTGCAG	0.572																																																	0													65	74	71					2																	1680739		2020	4182	6202	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.808G>A	2.37:g.1680739C>T	ENSP00000252804:p.Glu270Lys		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.E270K	ENST00000252804.4	37	c.808	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.136608|4.136608	0.77662|0.77662	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000447941	T|.	0.67698|.	-0.28|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.125530|.	0.52532|.	D|.	0.000072|.	T|T	0.51261|0.51261	0.1664|0.1664	N|N	0.16743|0.16743	0.435|0.435	0.58432|0.58432	D|D	0.999994|0.999994	P;D|.	0.60160|.	0.943;0.987|.	P;P|.	0.59487|.	0.572;0.858|.	T|T	0.48375|0.48375	-0.9041|-0.9041	10|5	0.38643|.	T|.	0.18|.	-27.004|-27.004	17.8285|17.8285	0.88673|0.88673	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	270;270|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	K|Q	270|193	ENSP00000252804:E270K|.	ENSP00000252804:E270K|.	E|R	-|-	1|2	0|0	PXDN|PXDN	1659746|1659746	1.000000|1.000000	0.71417|0.71417	0.560000|0.560000	0.28344|0.28344	0.731000|0.731000	0.41821|0.41821	7.716000|7.716000	0.84723|0.84723	2.207000|2.207000	0.71202|0.71202	0.449000|0.449000	0.29647|0.29647	GAA|CGA	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.572	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1680739	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1680739	C	T	1680739	3	4	9	1	0	0	0	0	1	0	0	0	12877	893	31	1	3695	1	PXDN	2	1680739	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		1680739	241518634	16	844										
C2orf16	84226	genome.wustl.edu	37	chr2	27802554	27802554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cttccctcagcatattttacGatagagaagatcttgttcca	6	10	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:27802554G>A	ENST00000408964.2	+	1	3166	c.3115G>A	c.(3115-3117)Gat>Aat	p.D1039N	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1039						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATATTTTACGATAGAGAAGA	0.453																																																	0													102	105	104					2																	27802554		2056	4226	6282	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3115G>A	2.37:g.27802554G>A	ENSP00000386190:p.Asp1039Asn		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.D1039N	ENST00000408964.2	37	c.3115	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	4.342	0.062832	0.08388	.	.	ENSG00000221843	ENST00000408964	T	0.05319	3.46	4.73	-1.54	0.08584	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41998	-0.9477	9	0.59425	D	0.04	.	4.4817	0.11771	0.4237:0.1841:0.3922:0.0	.	1039	Q68DN1	CB016_HUMAN	N	1039	ENSP00000386190:D1039N	ENSP00000386190:D1039N	D	+	1	0	C2orf16	27656058	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.246000	0.18160	-0.353000	0.08224	-0.670000	0.03821	GAT	C2orf16	-	NULL		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	G	NM_032266		27802554	1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.000	A	A	27802554	G	A	27802554	3	1	9	1	0	0	0	0	1	0	0	0	2162	1058	37	1	3117	1	C2orf16	2	27802554	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	26121815	27802554	215396819	17	845										
BRE	9577	genome.wustl.edu	37	chr2	28521339	28521339	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gccccagatgggatggaaatGaaatggccaaaagagcaaag	13	7	0	3	rs376668252		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:28521339G>C	ENST00000342045.2	+	12	1210	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	BRE_ENST00000379632.2_Missense_Mutation_p.E357Q|BRE_ENST00000344773.2_Missense_Mutation_p.E357Q|BRE_ENST00000379624.1_Missense_Mutation_p.E357Q|BRE_ENST00000361704.2_Missense_Mutation_p.E357Q	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGATGGAAATGAAATGGCCAA	0.433																																																	0													104	104	104					2																	28521339		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1069G>C	2.37:g.28521339G>C	ENSP00000339371:p.Glu357Gln			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.E357Q	ENST00000342045.2	37	c.1069	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403476	0.83230	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.67145	0.996;0.981;0.989;0.989	D;D;D;D	0.75484	0.986;0.932;0.969;0.969	T	0.73668	-0.3910	9	0.38643	T	0.18	-24.6372	19.3028	0.94150	0.0:0.0:1.0:0.0	.	357;357;357;357	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	Q	357;357;357;357;357;259	.	ENSP00000339371:E357Q	E	+	1	0	BRE	28374843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.582000	0.87167	0.655000	0.94253	GAA	BRE	-	NULL		0.433	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	G			28521339	1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28521339	G	C	28521339	3	2	9	1	0	0	0	0	1	0	0	0	1512	1291	45	1	1107	1	BRE	2	28521339	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	718785	28521339	214678034	18	846										
DHX57	90957	genome.wustl.edu	37	chr2	39088417	39088417	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acaagccagaggtaggttctCattggtggaataaaatgcca	11	7	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:39088417C>T	ENST00000295373.6	-	5	1261	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	379							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGTAGGTTCTCATTGGTGGAA	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)												0													58	56	57					2																	39088417		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1135G>A	2.37:g.39088417C>T	ENSP00000295373:p.Glu379Lys		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E379K	ENST00000295373.6	37	c.1135	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.378648	0.95945	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.22743	1.94	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.56097	D	0.000030	T	0.40595	0.1123	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05007	-1.0912	10	0.12430	T	0.62	.	19.5145	0.95157	0.0:1.0:0.0:0.0	.	379;379	Q6P158-2;Q6P158	.;DHX57_HUMAN	K	379;277	ENSP00000295373:E379K	ENSP00000295373:E379K	E	-	1	0	DHX57	38941921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.812000	0.69194	2.618000	0.88619	0.655000	0.94253	GAG	DHX57	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	C	NM_145646		39088417	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39088417	C	T	39088417	3	4	9	1	0	0	0	0	1	0	0	0	4523	835	29	1	3105	1	DHX57	2	39088417	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	10567078	39088417	204110956	19	847										
DHX57	90957	genome.wustl.edu	37	chr2	39088645	39088645	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gaggtaaaatttacagatttCaagtgaattctcttgtacat	7	5	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:39088645C>T	ENST00000295373.6	-	5	1033	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	303							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTACAGATTTCAAGTGAATTC	0.358																																					Melanoma(191;1090 2095 4375 23729 47341)												0													76	77	77					2																	39088645		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.907G>A	2.37:g.39088645C>T	ENSP00000295373:p.Glu303Lys		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E303K	ENST00000295373.6	37	c.907	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041881	0.35989	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.51325	0.71	5.78	5.78	0.91487	Zinc finger, CCCH-type (3);RWD domain (1);	0.108387	0.40908	D	0.000990	T	0.31979	0.0814	N	0.14661	0.345	0.34277	D	0.681676	B;B	0.25955	0.138;0.004	B;B	0.23716	0.048;0.01	T	0.42565	-0.9444	10	0.44086	T	0.13	.	13.2363	0.59971	0.0:0.9278:0.0:0.0722	.	303;303	Q6P158-2;Q6P158	.;DHX57_HUMAN	K	303;201	ENSP00000295373:E303K	ENSP00000295373:E303K	E	-	1	0	DHX57	38942149	0.898000	0.30612	0.960000	0.40013	0.660000	0.38997	1.879000	0.39618	2.724000	0.93272	0.563000	0.77884	GAA	DHX57	-	pfam_RWD-domain,pfam_Znf_CCCH,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH		0.358	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	C	NM_145646		39088645	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	0.974	T	T	39088645	C	T	39088645	3	4	9	1	0	0	0	0	1	0	0	0	4523	835	29	1	3333	1	DHX57	2	39088645	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	228	39088645	204110728	20	848										
IL1R1	3554	genome.wustl.edu	37	chr2	102793102	102793102	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tctgcaaagacaaggttctgGaagaatgtcaggtaccacat	10	8	3	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:102793102G>A	ENST00000410023.1	+	12	1911	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Nonsense_Mutation_p.W500*|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Nonsense_Mutation_p.W531*			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	531	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAGGTTCTGGAAGAATGTCA	0.483																																																	0													69	66	67					2																	102793102		2203	4300	6503	SO:0001587	stop_gained	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1593G>A	2.37:g.102793102G>A	ENSP00000386380:p.Trp531*		Q587I7	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.W531*	ENST00000410023.1	37	c.1593	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.271412	0.98179	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	.	.	.	5.82	4.93	0.64822	.	0.058685	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1621	0.81727	0.0:0.0:0.8657:0.1343	.	.	.	.	X	500;531;531	.	ENSP00000233946:W531X	W	+	3	0	IL1R1	102159534	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.124000	0.77185	1.419000	0.47118	0.557000	0.71058	TGG	IL1R1	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.483	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	G			102793102	1	no_errors	ENST00000233946	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	102793102	G	A	102793102	4	1	9	1	0	0	0	0	0	1	0	0	7678	1183	41	1	1631	1	IL1R1	2	102793102	Nonsense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	63704457	102793102	140406271	21	849										
ZAK	51776	genome.wustl.edu	37	chr2	174123523	174123523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acactaacctacctgatgcgGagattttaaagatgacaaag	8	8	0	4			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:174123523G>A	ENST00000375213.3	+	17	1534	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.E486K	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		486					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ACCTGATGCGGAGATTTTAAA	0.368																																																	0													99	96	97					2																	174123523		1854	4095	5949	SO:0001583	missense	51776																														ENST00000375213.3:c.1456G>A	2.37:g.174123523G>A	ENSP00000364361:p.Glu486Lys		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E486K	ENST00000375213.3	37	c.1456	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.093992	0.94149	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.77358	-1.09;-1.09	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	T	0.82335	-0.0508	10	0.59425	D	0.04	.	19.1938	0.93679	0.0:0.0:1.0:0.0	.	486	Q9NYL2	MLTK_HUMAN	K	486	ENSP00000387259:E486K;ENSP00000364361:E486K	ENSP00000364361:E486K	E	+	1	0	AC013461.1	173831769	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.388000	0.97237	2.601000	0.87937	0.585000	0.79938	GAG	MLTK	-	NULL		0.368	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174123523	1	no_errors	ENST00000375213	ensembl	human	known	70_37	missense	SNP	1.000	A	A	174123523	G	A	174123523	3	1	9	1	0	0	0	0	1	0	0	0	17543	1175	41	1	1903	1	ZAK	2	174123523	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	71330421	174123523	69075850	22	850										
RUFY4	285180	genome.wustl.edu	37	chr2	218940282	218940282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccccagaggggctgtagaggGagcagtatcagggagcaggc	18	9	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:218940282G>A	ENST00000344321.7	+	9	1585	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.G376E|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	356							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTGTAGAGGGAGCAGTATCA	0.612																																																	0													30	34	33					2																	218940282		1947	4156	6103	SO:0001583	missense	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1067G>A	2.37:g.218940282G>A	ENSP00000345900:p.Gly356Glu		Q6ZR96	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.G376E	ENST00000344321.7	37	c.1127		2	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.124206	0.01770	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.43688	1.63;0.94	4.76	-0.413	0.12363	.	1.321200	0.05241	N	0.512257	T	0.21674	0.0522	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16247	-1.0409	10	0.02654	T	1	-1.4283	4.0796	0.09921	0.5178:0.1794:0.3028:0.0	.	356	Q6ZNE9	RUFY4_HUMAN	E	356;376	ENSP00000345900:G356E;ENSP00000363270:G376E	ENSP00000345900:G356E	G	+	2	0	RUFY4	218648527	0.037000	0.19845	0.000000	0.03702	0.001000	0.01503	1.363000	0.34159	-0.220000	0.09988	-0.499000	0.04595	GGA	RUFY4	-	NULL		0.612	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		G	NM_198483		218940282	1	no_errors	ENST00000374155	ensembl	human	known	70_37	missense	SNP	0.000	A	A	218940282	G	A	218940282	3	1	9	1	0	0	0	0	1	0	0	0	13771	1174	41	1	1093	1	RUFY4	2	218940282	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	44816759	218940282	24259091	23	851										
EPHA4	2043	genome.wustl.edu	37	chr2	222307723	222307723	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gagacgcccactgcatacctCaccaaattcacctttgagag	7	14	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr2:222307723C>T	ENST00000281821.2	-	11	1941	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	EPHA4_ENST00000409938.1_Missense_Mutation_p.E634K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E583K|EPHA4_ENST00000409854.1_Missense_Mutation_p.E634K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTGCATACCTCACCAAATTCA	0.428																																																	0													106	105	105					2																	222307723		2203	4300	6503	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1900G>A	2.37:g.222307723C>T	ENSP00000281821:p.Glu634Lys		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E634K	ENST00000281821.2	37	c.1900	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.173107	0.94807	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	N	0.16016	0.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87576	0.2481	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	634	P54764	EPHA4_HUMAN	K	634;634;634;583	ENSP00000281821:E634K;ENSP00000386276:E634K;ENSP00000386829:E634K;ENSP00000375923:E583K	ENSP00000281821:E634K	E	-	1	0	EPHA4	222015967	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAG	EPHA4	-	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.428	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222307723	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	222307723	C	T	222307723	3	4	9	1	0	0	0	0	1	0	0	0	5181	835	29	1	1088	1	EPHA4	2	222307723	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	3367441	222307723	20891650	24	852										
TIMP4	7079	genome.wustl.edu	37	chr3	12198411	12198411	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tagatatactgaacatccttGactttctcaaaccctttgaa	4	10	1	4	rs370491983		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:12198411G>C	ENST00000287814.4	-	3	771	c.261C>G	c.(259-261)gtC>gtG	p.V87V	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	87	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GAACATCCTTGACTTTCTCAA	0.393																																					Melanoma(199;1446 2144 30617 38794 51714)												0								G	,,	0,4406		0,0,2203	111	99	103		,261,	2.9	1	3		103	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	SYN2,TIMP4	NM_003178.4,NM_003256.3,NM_133625.3	,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,	,87/225,	12198411	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7079			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.261C>G	3.37:g.12198411G>C			B2R7K6	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.V87	ENST00000287814.4	37	c.261	CCDS2608.1	3																																																																																			TIMP4	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.393	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP4	HGNC	protein_coding	OTTHUMT00000251978.1	G	NM_003256		12198411	-1	no_errors	ENST00000287814	ensembl	human	known	70_37	silent	SNP	1.000	C	C	12198411	G	C	12198411	2	2	9	1	0	0	0	0	0	0	0	1	15950	1277	45	1		1	TIMP4	3	12198411	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		12198411	185824019	25	853										
RARB	5915	genome.wustl.edu	37	chr3	25637933	25637933	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gcagagcgtgtaattaccttGaaaatggaaattcctggatc	10	7	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:25637933G>C	ENST00000404969.1	+	8	1194	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	RARB_ENST00000330688.4_Missense_Mutation_p.L391F|RARB_ENST00000437042.2_Missense_Mutation_p.L279F|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.L279F			P10826	RARB_HUMAN	retinoic acid receptor, beta	398	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TAATTACCTTGAAAATGGAAA	0.398																																																	0													105	105	105					3																	25637933		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1194G>C	3.37:g.25637933G>C	ENSP00000385865:p.Leu398Phe		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L398F	ENST00000404969.1	37	c.1194		3	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705108	0.68615	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.8	5.8	0.92144	Nuclear hormone receptor, ligand-binding (2);	0.135528	0.47852	D	0.000203	T	0.48390	0.1497	L	0.33189	0.99	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.16100	-1.0414	10	0.10377	T	0.69	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	398;391	P10826;F1D8S6	RARB_HUMAN;.	F	398;398;398;279;391;279	ENSP00000373282:L398F;ENSP00000385865:L398F;ENSP00000398840:L279F;ENSP00000332296:L391F;ENSP00000391391:L279F	ENSP00000332296:L391F	L	+	3	2	RARB	25612937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.645000	0.74343	2.748000	0.94277	0.655000	0.94253	TTG	RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt		0.398	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		G	NM_000965, NM_016152		25637933	1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25637933	G	C	25637933	3	2	9	1	0	0	0	0	1	0	0	0	13083	1281	45	1	1203	1	RARB	3	25637933	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	13439522	25637933	172384497	26	854										
LAMB2	3913	genome.wustl.edu	37	chr3	49160436	49160436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cctcatctcgacagccggcaCccccacaagggcttgtagca	9	17	2	0	rs141317511		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:49160436C>G	ENST00000418109.1	-	28	4438	c.4274G>C	c.(4273-4275)gGt>gCt	p.G1425A	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.G1425A|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1425	Domain alpha.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGCCGGCACCCCCACAAGG	0.662																																																	0								C	ALA/GLY	1,4405	2.1+/-5.4	0,1,2202	25	27	26		4274	4.7	1	3	dbSNP_134	26	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LAMB2	NM_002292.3	60	0,3,6500	GG,GC,CC		0.0233,0.0227,0.0231	probably-damaging	1425/1799	49160436	3,13003	2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4274G>C	3.37:g.49160436C>G	ENSP00000388325:p.Gly1425Ala		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1425A	ENST00000418109.1	37	c.4274	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797977	0.70567	2.27E-4	2.33E-4	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.54479	0.57;0.57	5.6	4.71	0.59529	.	0.053986	0.64402	D	0.000001	T	0.74496	0.3724	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78355	-0.2236	10	0.54805	T	0.06	.	15.7421	0.77905	0.1375:0.8625:0.0:0.0	.	1425	P55268	LAMB2_HUMAN	A	1425;1425;192	ENSP00000388325:G1425A;ENSP00000307156:G1425A	ENSP00000307156:G1425A	G	-	2	0	LAMB2	49135440	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.376000	0.79658	1.305000	0.44909	0.655000	0.94253	GGT	LAMB2	-	NULL		0.662	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	C	NM_002292		49160436	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49160436	C	G	49160436	3	3	9	1	0	0	0	0	1	0	0	0	8631	507	18	4	1146	4	LAMB2	3	49160436	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	23522503	49160436	148861994	27	855										
CRYBG3	131544	genome.wustl.edu	37	chr3	97655689	97655689	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atcctactcaggcctaatgaGatcccaaactggacagcatt	7	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:97655689G>A	ENST00000182096.4	+	16	2662	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.E73E	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2814							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGCCTAATGAGATCCCAAACT	0.398																																																	0													101	92	95					3																	97655689		1860	4106	5966	SO:0001819	synonymous_variant	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2598G>A	3.37:g.97655689G>A			B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E866	ENST00000182096.4	37	c.2598		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.398	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97655689	1	no_errors	ENST00000182096	ensembl	human	known	70_37	silent	SNP	1.000	A	A	97655689	G	A	97655689	2	1	9	1	0	0	0	0	0	0	0	1	3918	933	33	1		1	CRYBG3	3	97655689	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	48495253	97655689	100366741	28	856										
PARP9	83666	genome.wustl.edu	37	chr3	122259323	122259323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atagaaagttactcacctaaCgagcgccaaaggcctcgctc	8	13	1	1	rs376768463		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:122259323C>T	ENST00000360356.2	-	8	2093	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	PARP9_ENST00000477522.2_Silent_p.S587S|PARP9_ENST00000462315.1_Silent_p.S587S|PARP9_ENST00000471785.1_Silent_p.S587S|PARP9_ENST00000492382.1_Silent_p.S167S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	622					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCACCTAACGAGCGCCAAA	0.433																																																	0								C	,,,,,	0,4406		0,0,2203	56	54	55		1866,1761,1761,1761,1761,1866	-5.8	0	3		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	622/855,587/820,587/820,587/820,587/711,622/855	122259323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1866G>A	3.37:g.122259323C>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S622	ENST00000360356.2	37	c.1866	CCDS3014.1	3																																																																																			PARP9	-	NULL		0.433	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	C	NM_031458		122259323	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	silent	SNP	0.000	T	T	122259323	C	T	122259323	2	4	9	1	0	0	0	0	0	0	0	1	11490	523	19	2		2	PARP9	3	122259323	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	24603634	122259323	75763107	29	857										
PARP14	54625	genome.wustl.edu	37	chr3	122399840	122399840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cttccagagcccgaagaggtCgggaggcggcgagtgtgagg	19	9	0	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:122399840C>T	ENST00000474629.2	+	1	376	c.110C>T	c.(109-111)tCg>tTg	p.S37L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCGAAGAGGTCGGGAGGCGGC	0.672																																																	0													30	34	33					3																	122399840		1869	4090	5959	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.110C>T	3.37:g.122399840C>T	ENSP00000418194:p.Ser37Leu		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S37L	ENST00000474629.2	37	c.110	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002438	0.54254	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.25085	1.82	4.23	4.23	0.50019	.	.	.	.	.	T	0.49677	0.1571	M	0.81497	2.545	0.34163	D	0.668873	D	0.89917	1.0	D	0.66602	0.945	T	0.66056	-0.6018	9	0.72032	D	0.01	.	11.9743	0.53083	0.0:1.0:0.0:0.0	.	37	Q460N5	PAR14_HUMAN	L	37	ENSP00000418194:S37L	ENSP00000381228:S37L	S	+	2	0	PARP14	123882530	0.982000	0.34865	0.097000	0.21041	0.138000	0.21146	4.493000	0.60341	2.183000	0.69458	0.655000	0.94253	TCG	PARP14	-	NULL		0.672	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122399840	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.529	T	T	122399840	C	T	122399840	3	4	9	1	0	0	0	0	1	0	0	0	11482	893	31	1	112	1	PARP14	3	122399840	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	140517	122399840	75622590	30	858										
DIRC2	84925	genome.wustl.edu	37	chr3	122598136	122598136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cttggttcaactggtgccttCccgggtcgtgtttgctcagt	12	11	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:122598136C>T	ENST00000261038.5	+	9	1746	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	450					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTGGTGCCTTCCCGGGTCGTG	0.458																																																	0													329	336	334					3																	122598136		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1348C>T	3.37:g.122598136C>T	ENSP00000261038:p.Pro450Ser		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.P450S	ENST00000261038.5	37	c.1348	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661622	0.29515	.	.	ENSG00000138463	ENST00000261038	T	0.57107	0.42	5.31	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);	0.108147	0.64402	N	0.000006	T	0.38374	0.1038	L	0.36672	1.1	0.45594	D	0.998534	B	0.20261	0.043	B	0.23419	0.046	T	0.13872	-1.0493	10	0.15499	T	0.54	.	7.7894	0.29112	0.1613:0.7573:0.0:0.0814	.	450	Q96SL1	DIRC2_HUMAN	S	450	ENSP00000261038:P450S	ENSP00000261038:P450S	P	+	1	0	DIRC2	124080826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.442000	0.59988	1.214000	0.43395	0.650000	0.86243	CCC	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.458	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122598136	1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122598136	C	T	122598136	3	4	9	1	0	0	0	0	1	0	0	0	4544	855	30	1	1382	1	DIRC2	3	122598136	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	198296	122598136	75424294	31	859										
TMCC1	23023	genome.wustl.edu	37	chr3	129370446	129370446	+	Frame_Shift_Del	DEL	G	G	-													0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cctgttgcgagtcttcatgaGggggaccacacagttggcta							TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:129370446delG	ENST00000393238.3	-	6	2180	c.1840delC	c.(1840-1842)ctcfs	p.L614fs	TMCC1_ENST00000329333.5_Frame_Shift_Del_p.L435fs|TMCC1_ENST00000432054.2_Frame_Shift_Del_p.L290fs|TMCC1_ENST00000426664.2_Frame_Shift_Del_p.L500fs	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	614						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GTCTTCATGAGGGGGACCACA	0.517																																																	0													159	142	148					3																	129370446		2203	4300	6503	SO:0001589	frameshift_variant	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1840delC	3.37:g.129370446delG	ENSP00000376930:p.Leu614fs		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Frame_Shift_Del	DEL	pfam_Predicted_TM_coiled-coil_2	p.L614fs	ENST00000393238.3	37	c.1840	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2		0.517	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	G	NM_015008		129370446	-1	no_errors	ENST00000393238	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	129370446	G	-	129370446	7	5	9	1	0	1	0	1	0	0	0	0	16022	1000	35	0	125	0	TMCC1	3	129370446	Frame_Shift_Del	DEL	G	TCGA-C5-A1BK-01B-11D-A13W-08	6772310	129370446	68651984	32	860										
CAMK2N2	94032	genome.wustl.edu	37	chr3	183978917	183978917	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccgcgtacctcgcttggctcGgccgatctggcccagcttgg	13	16	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr3:183978917G>A	ENST00000296238.3	-	1	334	c.157C>T	c.(157-159)Cga>Tga	p.R53*	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	53	Inhibitory domain. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			CGCTTGGCTCGGCCGATCTGG	0.736																																																	0													14	18	17					3																	183978917		2200	4291	6491	SO:0001587	stop_gained	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.157C>T	3.37:g.183978917G>A	ENSP00000296238:p.Arg53*			Nonsense_Mutation	SNP	NULL	p.R53*	ENST00000296238.3	37	c.157	CCDS3257.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.789842	0.96945	.	.	ENSG00000163888	ENST00000296238	.	.	.	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7497	9.1468	0.36937	0.0:0.0:0.7821:0.2179	.	.	.	.	X	53	.	ENSP00000296238:R53X	R	-	1	2	CAMK2N2	185461611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.054000	0.30455	1.783000	0.52377	0.563000	0.77884	CGA	CAMK2N2	-	NULL		0.736	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2N2	HGNC	protein_coding	OTTHUMT00000346010.1	G	NM_033259		183978917	-1	no_errors	ENST00000296238	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	183978917	G	A	183978917	4	1	9	1	0	0	0	0	0	1	0	0	2609	1124	39	2	90	2	CAMK2N2	3	183978917	Nonsense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	54608471	183978917	14043513	33	861										
WDR1	9948	genome.wustl.edu	37	chr4	10083053	10083053	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tttggctgaacgtccagtttCacaactccttgtccgctgtt	8	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:10083053C>A	ENST00000499869.2	-	11	1405	c.1212G>T	c.(1210-1212)gtG>gtT	p.V404V	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.V264V|WDR1_ENST00000382452.2_Silent_p.V404V|WDR1_ENST00000502702.1_Silent_p.V264V|MIR3138_ENST00000585238.1_RNA			O75083	WDR1_HUMAN	WD repeat domain 1	404					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGTCCAGTTTCACAACTCCTT	0.522																																																	0													82	87	85					4																	10083053		2027	4187	6214	SO:0001819	synonymous_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1212G>T	4.37:g.10083053C>A			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V404	ENST00000499869.2	37	c.1212	CCDS54740.1	4																																																																																			WDR1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.522	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	HGNC	protein_coding	OTTHUMT00000359877.1	C			10083053	-1	no_errors	ENST00000382452	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10083053	C	A	10083053	2	1	9	1	0	0	0	0	0	0	0	1	17303	813	29	3		3	WDR1	4	10083053	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		10083053	181071223	34	862										
ADAMTS3	9508	genome.wustl.edu	37	chr4	73205317	73205317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cgatattgtaatcgttttctCccgcgtgtctgcggcgtctc	10	12	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:73205317C>G	ENST00000286657.4	-	5	791	c.755G>C	c.(754-756)gGa>gCa	p.G252A		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	252					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G252E(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCGTTTTCTCCCGCGTGTCT	0.493																																					NSCLC(168;1941 2048 2918 13048 43078)												1	Substitution - Missense(1)	breast(1)											271	259	263					4																	73205317		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.755G>C	4.37:g.73205317C>G	ENSP00000286657:p.Gly252Ala		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G252A	ENST00000286657.4	37	c.755	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	1.562	-0.536429	0.04082	.	.	ENSG00000156140	ENST00000286657	T	0.60548	0.18	5.31	5.31	0.75309	.	0.065738	0.64402	D	0.000010	T	0.46092	0.1375	L	0.33485	1.01	0.47819	D	0.999529	B	0.17268	0.021	B	0.15484	0.013	T	0.42189	-0.9466	10	0.06625	T	0.88	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	252	O15072	ATS3_HUMAN	A	252	ENSP00000286657:G252A	ENSP00000286657:G252A	G	-	2	0	ADAMTS3	73424181	0.044000	0.20184	0.978000	0.43139	0.027000	0.11550	1.532000	0.36029	2.763000	0.94921	0.563000	0.77884	GGA	ADAMTS3	-	NULL		0.493	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	C			73205317	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	0.994	G	G	73205317	C	G	73205317	3	3	9	1	0	0	0	0	1	0	0	0	267	855	30	1	2934	1	ADAMTS3	4	73205317	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	63122264	73205317	117948959	35	863										
PDLIM5	10611	genome.wustl.edu	37	chr4	95444929	95444929	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	taagaataggcgatgtggttCtcagcattgatggaataaat	11	4	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:95444929C>G	ENST00000317968.4	+	3	287	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V	PDLIM5_ENST00000514743.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L51V|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L51V|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L51V|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L51V	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	51	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGATGTGGTTCTCAGCATTGA	0.393																																																	0													125	116	119					4																	95444929		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.151C>G	4.37:g.95444929C>G	ENSP00000321746:p.Leu51Val		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.L51V	ENST00000317968.4	37	c.151	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.386|9.386	1.074169|1.074169	0.20227|0.20227	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.34275	.|1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.96|5.96	3.17|3.17	0.36434|0.36434	.|PDZ/DHR/GLGF (4);	.|0.073324	.|0.56097	.|D	.|0.000028	T|T	0.40645|0.40645	0.1125|0.1125	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	.|P;B;B;P;B;B	.|0.47604	.|0.898;0.014;0.019;0.569;0.002;0.039	.|P;B;B;B;B;B	.|0.59357	.|0.856;0.017;0.078;0.279;0.007;0.413	T|T	0.10474|0.10474	-1.0628|-1.0628	5|10	.|0.10111	.|T	.|0.7	.|.	12.1149|12.1149	0.53860|0.53860	0.1264:0.6302:0.2435:0.0|0.1264:0.6302:0.2435:0.0	.|.	.|51;51;51;51;51;51	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	L|V	18|51	.|ENSP00000398469:L51V;ENSP00000369527:L51V;ENSP00000322021:L51V;ENSP00000401579:L51V;ENSP00000439795:L51V;ENSP00000321746:L51V;ENSP00000424297:L51V;ENSP00000426804:L51V;ENSP00000424360:L51V	.|ENSP00000321746:L51V	F|L	+|+	3|1	2|0	PDLIM5|PDLIM5	95663952|95663952	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	2.743000|2.743000	0.47442|0.47442	0.858000|0.858000	0.35431|0.35431	0.650000|0.650000	0.86243|0.86243	TTC|CTC	PDLIM5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.393	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	C			95444929	1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95444929	C	G	95444929	3	3	9	1	0	0	0	0	1	0	0	0	11707	913	32	1	157	1	PDLIM5	4	95444929	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	22239612	95444929	95709347	36	864										
USP53	54532	genome.wustl.edu	37	chr4	120169975	120169975	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acataaggcatgctcttgcaGaaagtttcaaagatgagcag	10	7	2	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:120169975G>A	ENST00000274030.6	+	7	1489	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	USP53_ENST00000450251.1_Missense_Mutation_p.E104K	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGCTCTTGCAGAAAGTTTCAA	0.413																																																	0													209	184	192					4																	120169975		1917	4130	6047	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.310G>A	4.37:g.120169975G>A	ENSP00000274030:p.Glu104Lys			Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E104K	ENST00000274030.6	37	c.310	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534765	0.27475	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.27402	1.67;1.67	6.16	6.16	0.99307	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.097167	0.64402	D	0.000002	T	0.26085	0.0636	N	0.12637	0.245	0.46113	D	0.998875	P	0.50710	0.938	P	0.54706	0.759	T	0.03315	-1.1049	10	0.05721	T	0.95	-33.2582	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	104	Q70EK8	UBP53_HUMAN	K	104	ENSP00000274030:E104K;ENSP00000409906:E104K	ENSP00000274030:E104K	E	+	1	0	USP53	120389423	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.745000	0.98856	2.937000	0.99478	0.650000	0.86243	GAA	USP53	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	G	XM_052597		120169975	1	no_errors	ENST00000274030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120169975	G	A	120169975	3	1	9	1	0	0	0	0	1	0	0	0	17115	943	33	1	320	1	USP53	4	120169975	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	24725046	120169975	70984301	37	865										
TBC1D9	23158	genome.wustl.edu	37	chr4	141555331	141555331	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccgccccagtagcagctggtGagatgttctgcctgaaaaag	12	11	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:141555331G>C	ENST00000442267.2	-	16	2591	c.2517C>G	c.(2515-2517)ctC>ctG	p.L839L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	839							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGCAGCTGGTGAGATGTTCTG	0.537																																																	0													65	68	67					4																	141555331		2081	4223	6304	SO:0001819	synonymous_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2517C>G	4.37:g.141555331G>C			A6H8U8|D3DNZ1|O94958	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.L839	ENST00000442267.2	37	c.2517	CCDS47136.1	4																																																																																			TBC1D9	-	NULL		0.537	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	G	NM_015130		141555331	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	silent	SNP	0.487	C	C	141555331	G	C	141555331	2	2	9	1	0	0	0	0	0	0	0	1	15657	1277	45	1		1	TBC1D9	4	141555331	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	21385356	141555331	49598945	38	866										
TIGD4	201798	genome.wustl.edu	37	chr4	153690664	153690664	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aattttcaaggtctgctaaaGaattttgaagtccgtcattc	7	7	3	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:153690664G>A	ENST00000304337.2	-	2	2313	c.1493C>T	c.(1492-1494)tCt>tTt	p.S498F		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	498						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GTCTGCTAAAGAATTTTGAAG	0.299																																																	0													36	41	40					4																	153690664		2202	4300	6502	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1493C>T	4.37:g.153690664G>A	ENSP00000355162:p.Ser498Phe		Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S498F	ENST00000304337.2	37	c.1493	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869288	0.32977	.	.	ENSG00000169989	ENST00000304337	T	0.15017	2.46	6.08	6.08	0.98989	Centromere protein Cenp-B, dimerisation domain (1);	0.133659	0.34828	N	0.003648	T	0.20414	0.0491	L	0.27053	0.805	0.39204	D	0.963192	P	0.40050	0.7	P	0.45506	0.483	T	0.01071	-1.1461	10	0.62326	D	0.03	-19.9271	17.405	0.87471	0.0:0.0:1.0:0.0	.	498	Q8IY51	TIGD4_HUMAN	F	498	ENSP00000355162:S498F	ENSP00000355162:S498F	S	-	2	0	TIGD4	153910114	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	5.944000	0.70219	2.894000	0.99253	0.591000	0.81541	TCT	TIGD4	-	pfam_Centromere_CenpB_dimerisation		0.299	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	G	NM_145720		153690664	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153690664	G	A	153690664	3	1	9	1	0	0	0	0	1	0	0	0	15928	942	33	1	49	1	TIGD4	4	153690664	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	12135333	153690664	37463612	39	867										
KLHL2	11275	genome.wustl.edu	37	chr4	166235222	166235222	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgtatgctgtaggaggtcatGatggccctttagtacgaaaa	12	6	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr4:166235222G>C	ENST00000226725.6	+	13	1772	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	KLHL2_ENST00000421009.2_Missense_Mutation_p.D408H|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.D509H|KLHL2_ENST00000538127.1_Missense_Mutation_p.D417H|KLHL2_ENST00000506761.1_Missense_Mutation_p.D339H	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	505					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGGAGGTCATGATGGCCCTTT	0.388																																																	0													264	238	247					4																	166235222		2203	4300	6503	SO:0001583	missense	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1513G>C	4.37:g.166235222G>C	ENSP00000226725:p.Asp505His		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D505H	ENST00000226725.6	37	c.1513	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.115184	0.94339	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	6.13	6.13	0.99165	Galactose oxidase, beta-propeller (1);	0.044702	0.85682	D	0.000000	D	0.91442	0.7299	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	D	0.91353	0.5106	10	0.87932	D	0	.	20.8599	0.99761	0.0:0.0:1.0:0.0	.	509;505;505	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	H	505;509;417;408;339	ENSP00000226725:D505H;ENSP00000424198:D509H;ENSP00000437526:D417H;ENSP00000408974:D408H;ENSP00000424108:D339H	ENSP00000226725:D505H	D	+	1	0	KLHL2	166454672	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.865000	0.99609	2.937000	0.99478	0.650000	0.86243	GAT	KLHL2	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.388	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	G			166235222	1	no_errors	ENST00000226725	ensembl	human	known	70_37	missense	SNP	1.000	C	C	166235222	G	C	166235222	3	2	9	1	0	0	0	0	1	0	0	0	8394	1290	45	1	1605	1	KLHL2	4	166235222	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	12544558	166235222	24919054	40	868										
DNAH5	1767	genome.wustl.edu	37	chr5	13900383	13900383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggaagttgccagtggagagaCttccagacccatctgggcca	13	11	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:13900383C>T	ENST00000265104.4	-	15	2295	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	731	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTGGAGAGACTTCCAGACCC	0.423									Kartagener syndrome																																								0													94	100	98					5																	13900383		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2191G>A	5.37:g.13900383C>T	ENSP00000265104:p.Val731Ile		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V731I	ENST00000265104.4	37	c.2191	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422163	0.25639	.	.	ENSG00000039139	ENST00000265104	T	0.61859	0.07	5.51	4.52	0.55395	Dynein heavy chain, domain-1 (1);	0.053282	0.64402	D	0.000001	T	0.26810	0.0656	N	0.02854	-0.475	0.39667	D	0.970692	B	0.10296	0.003	B	0.24269	0.052	T	0.25676	-1.0125	10	0.17832	T	0.49	.	3.6065	0.08045	0.0:0.6444:0.0:0.3556	.	731	Q8TE73	DYH5_HUMAN	I	731	ENSP00000265104:V731I	ENSP00000265104:V731I	V	-	1	0	DNAH5	13953383	1.000000	0.71417	0.786000	0.31890	0.820000	0.46376	4.733000	0.62036	2.588000	0.87417	0.655000	0.94253	GTC	DNAH5	-	pfam_Dynein_heavy_dom-1		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369		13900383	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13900383	C	T	13900383	3	4	9	1	0	0	0	0	1	0	0	0	4614	565	20	4	11943	4	DNAH5	5	13900383	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		13900383	167014877	41	869										
SPEF2	79925	genome.wustl.edu	37	chr5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cacattggctattgatcctgCgacttccaaagaaatacctc	6	12	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:35700753C>T	ENST00000356031.3	+	16	2451	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	SPEF2_ENST00000440995.2_Missense_Mutation_p.A761V|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	766					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383																																																	0													148	130	136					5																	35700753		1840	4088	5928	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2297C>T	5.37:g.35700753C>T	ENSP00000348314:p.Ala766Val		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.A766V	ENST00000356031.3	37	c.2297	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	5.236	0.229059	0.09916	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.31510	3.38;3.23;3.37;1.49	5.67	2.93	0.34026	.	0.575006	0.18100	N	0.151701	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.18967	-1.0320	10	0.37606	T	0.19	.	7.2126	0.25941	0.0:0.5939:0.2605:0.1456	.	761;761;766	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	766;761;761;272	ENSP00000348314:A766V;ENSP00000421593:A761V;ENSP00000412125:A761V;ENSP00000421744:A272V	ENSP00000348314:A766V	A	+	2	0	SPEF2	35736510	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.085000	0.11250	0.326000	0.23384	-0.244000	0.11960	GCG	SPEF2	-	NULL		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	C	NM_144722		35700753	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.000	T	T	35700753	C	T	35700753	3	4	9	1	0	0	0	0	1	0	0	0	15065	768	27	2	2380	2	SPEF2	5	35700753	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	21800370	35700753	145214507	42	870										
ADAMTS19	171019	genome.wustl.edu	37	chr5	128887582	128887582	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atttctgtgtgcacaaagatGaaccatgtgatactgttggt	10	6	1	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:128887582G>A	ENST00000274487.4	+	7	1481	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	446	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCACAAAGATGAACCATGTGA	0.299																																																	0													60	61	60					5																	128887582		2201	4291	6492	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1336G>A	5.37:g.128887582G>A	ENSP00000274487:p.Glu446Lys			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E446K	ENST00000274487.4	37	c.1336	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413453	0.62511	.	.	ENSG00000145808	ENST00000274487	T	0.63744	-0.06	3.83	3.83	0.44106	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	T	0.64349	0.2590	N	0.16862	0.45	0.49483	D	0.999797	D	0.89917	1.0	D	0.91635	0.999	T	0.63559	-0.6610	9	.	.	.	.	15.6928	0.77469	0.0:0.0:1.0:0.0	.	446	Q8TE59	ATS19_HUMAN	K	446	ENSP00000274487:E446K	.	E	+	1	0	ADAMTS19	128915481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.259000	0.72494	2.432000	0.82394	0.591000	0.81541	GAA	ADAMTS19	-	pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B		0.299	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		128887582	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128887582	G	A	128887582	3	1	9	1	0	0	0	0	1	0	0	0	264	1291	45	1	1362	1	ADAMTS19	5	128887582	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	93186829	128887582	52027678	43	871										
PCDHA10	56139	genome.wustl.edu	37	chr5	140236854	140236854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aagaattactactcattggtGctggacagcgctctggaccg	11	10	2	1	rs375802816		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:140236854G>A	ENST00000307360.5	+	1	1221	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.V407V|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	407	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCATTGGTGCTGGACAGCG	0.627																																																	0													144	130	134					5																	140236854		2197	4275	6472	SO:0001819	synonymous_variant	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1221G>A	5.37:g.140236854G>A			A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V407	ENST00000307360.5	37	c.1221	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.627	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	G	NM_018901		140236854	1	no_errors	ENST00000307360	ensembl	human	known	70_37	silent	SNP	0.902	A	A	140236854	G	A	140236854	2	1	9	1	0	0	0	0	0	0	0	1	11544	1306	46	4		4	PCDHA10	5	140236854	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	11349272	140236854	40678406	44	872										
PCDHB2	56133	genome.wustl.edu	37	chr5	140475758	140475758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aaacctcctacaccctgttcGtccgcgagaacaacagcccc	6	18	0	1	rs368304890		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:140475758G>A	ENST00000194155.4	+	1	1532	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																																	0													85	85	85					5																	140475758		2203	4296	6499	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1384G>A	5.37:g.140475758G>A	ENSP00000194155:p.Val462Ile		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V462I	ENST00000194155.4	37	c.1384	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	6.470	0.454811	0.12283	.	.	ENSG00000112852	ENST00000194155	T	0.53857	0.6	5.11	1.79	0.24919	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27798	0.0684	N	0.20445	0.575	0.09310	N	1	P	0.49090	0.919	B	0.37480	0.251	T	0.08027	-1.0742	9	0.25106	T	0.35	.	3.0966	0.06312	0.1593:0.2428:0.4739:0.124	.	462	Q9Y5E7	PCDB2_HUMAN	I	462	ENSP00000194155:V462I	ENSP00000194155:V462I	V	+	1	0	PCDHB2	140455942	0.015000	0.18098	0.334000	0.25495	0.286000	0.27126	0.141000	0.16076	0.519000	0.28406	0.650000	0.86243	GTC	PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.637	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	G	NM_018936		140475758	1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.022	A	A	140475758	G	A	140475758	3	1	9	1	0	0	0	0	1	0	0	0	11566	1145	40	2	1386	2	PCDHB2	5	140475758	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	238904	140475758	40439502	45	873										
PCDHB14	56122	genome.wustl.edu	37	chr5	140605248	140605248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cagggcggcctcggtgggtcGctgctcggtgcccgagggtc	19	13	0	0	rs142658705		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:140605248G>A	ENST00000239449.4	+	1	2171	c.2171G>A	c.(2170-2172)cGc>cAc	p.R724H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R571H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	724					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R724H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662																																					Ovarian(141;50 1831 27899 33809 37648)												1	Substitution - Missense(1)	lung(1)						G	HIS/ARG	0,4406		0,0,2203	65	80	75		2171	1.1	0	5	dbSNP_134	75	1,8593		0,1,4296	no	missense	PCDHB14	NM_018934.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	724/799	140605248	1,12999	2203	4297	6500	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2171G>A	5.37:g.140605248G>A	ENSP00000239449:p.Arg724His		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R724H	ENST00000239449.4	37	c.2171	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	18.67	3.674687	0.67928	0.0	1.16E-4	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53206	0.63;0.64	4.36	1.1	0.20463	.	.	.	.	.	T	0.56804	0.2010	M	0.81112	2.525	0.09310	N	1	D	0.65815	0.995	P	0.51701	0.677	T	0.48948	-0.8989	9	0.52906	T	0.07	.	8.6311	0.33919	0.0:0.3138:0.5244:0.1617	.	724	Q9Y5E9	PCDBE_HUMAN	H	571;724	ENSP00000444518:R571H;ENSP00000239449:R724H	ENSP00000239449:R724H	R	+	2	0	PCDHB14	140585432	0.085000	0.21516	0.001000	0.08648	0.850000	0.48378	0.046000	0.14035	0.336000	0.23639	0.650000	0.86243	CGC	PCDHB14	-	NULL		0.662	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	G	NM_018934		140605248	1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.001	A	A	140605248	G	A	140605248	3	1	9	1	0	0	0	0	1	0	0	0	11563	1087	38	2	2173	2	PCDHB14	5	140605248	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	129490	140605248	40310012	46	874										
CSF1R	1436	genome.wustl.edu	37	chr5	149453030	149453030	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctcctggatgaggttctgctCagagctcaagttcaagtagg	12	9	4	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:149453030C>G	ENST00000286301.3	-	7	1207	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	306	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGTTCTGCTCAGAGCTCAAG	0.507																																																	0													116	106	109					5																	149453030		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.916G>C	5.37:g.149453030C>G	ENSP00000286301:p.Glu306Gln		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E306Q	ENST00000286301.3	37	c.916	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798260	0.16397	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.77098	-1.07	4.81	3.01	0.34805	Immunoglobulin-like fold (1);	0.272861	0.25813	N	0.028134	T	0.61324	0.2338	L	0.37750	1.13	0.80722	D	1	B;P	0.36465	0.107;0.554	B;B	0.33042	0.041;0.157	T	0.51116	-0.8746	10	0.12430	T	0.62	.	7.7217	0.28736	0.0:0.8001:0.0:0.1999	.	158;306	B4E2Y8;P07333	.;CSF1R_HUMAN	Q	306;158	ENSP00000286301:E306Q	ENSP00000286301:E306Q	E	-	1	0	CSF1R	149433223	0.887000	0.30362	1.000000	0.80357	0.835000	0.47333	0.826000	0.27407	0.439000	0.26476	0.655000	0.94253	GAG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.507	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	C	NM_005211		149453030	-1	no_errors	ENST00000286301	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149453030	C	G	149453030	3	3	9	1	0	0	0	0	1	0	0	0	3937	835	29	1	2066	1	CSF1R	5	149453030	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	8847782	149453030	31462230	47	875										
TCOF1	6949	genome.wustl.edu	37	chr5	149755767	149755767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccccggaaagcaggaactgcGacttctccagcaggctcatc	10	15	2	0	rs372688212		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:149755767G>A	ENST00000504761.2	+	13	2016	c.2016G>A	c.(2014-2016)gcG>gcA	p.A672A	TCOF1_ENST00000513346.1_Silent_p.A672A|TCOF1_ENST00000439160.2_Silent_p.A672A|TCOF1_ENST00000394269.3_Silent_p.A672A|TCOF1_ENST00000445265.2_Silent_p.A595A|TCOF1_ENST00000377797.3_Silent_p.A672A|TCOF1_ENST00000323668.7_Silent_p.A595A|TCOF1_ENST00000451292.1_Silent_p.A672A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	672					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGAACTGCGACTTCTCCAG	0.582																																																	0													109	127	121					5																	149755767		2201	4299	6500	SO:0001819	synonymous_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2016G>A	5.37:g.149755767G>A			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A672	ENST00000504761.2	37	c.2016	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149755767	1	no_errors	ENST00000451292	ensembl	human	known	70_37	silent	SNP	0.000	A	A	149755767	G	A	149755767	2	1	9	1	0	0	0	0	0	0	0	1	15738	1045	37	1		1	TCOF1	5	149755767	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	302737	149755767	31159493	48	876										
GEMIN5	25929	genome.wustl.edu	37	chr5	154272068	154272068	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	caggaggccatctgttggctCagcactgccagggtcaagtc	13	12	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:154272068C>T	ENST00000285873.7	-	25	3714	c.3639G>A	c.(3637-3639)ctG>ctA	p.L1213L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1213					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTTGGCTCAGCACTGCCA	0.587																																																	0													61	55	57					5																	154272068		2203	4300	6503	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3639G>A	5.37:g.154272068C>T			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L1213	ENST00000285873.7	37	c.3639	CCDS4330.1	5																																																																																			GEMIN5	-	NULL		0.587	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	C			154272068	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154272068	C	T	154272068	2	4	9	1	0	0	0	0	0	0	0	1	6350	813	29	1		1	GEMIN5	5	154272068	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	4516301	154272068	26643192	49	877										
KIF4B	285643	genome.wustl.edu	37	chr5	154393426	154393426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gctgagataggatcatgaagGaagaggtgaagggaattcct	15	4	1	4			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:154393426G>A	ENST00000435029.4	+	1	167	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCATGAAGGAAGAGGTGAA	0.577																																																	0													118	114	116					5																	154393426		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.7G>A	5.37:g.154393426G>A	ENSP00000387875:p.Glu3Lys			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E3K	ENST00000435029.4	37	c.7	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	16.72	3.200870	0.58234	.	.	ENSG00000226650	ENST00000435029	T	0.70399	-0.48	1.48	0.577	0.17385	.	.	.	.	.	T	0.68128	0.2967	L	0.31578	0.945	0.41605	D	0.98887	D	0.76494	0.999	D	0.70935	0.971	T	0.62015	-0.6943	9	0.24483	T	0.36	.	5.8511	0.18694	0.1942:0.0:0.8058:0.0	.	3	Q2VIQ3	KIF4B_HUMAN	K	3	ENSP00000387875:E3K	ENSP00000387875:E3K	E	+	1	0	KIF4B	154373619	0.997000	0.39634	0.969000	0.41365	0.661000	0.39034	1.974000	0.40559	0.196000	0.20367	-0.251000	0.11542	GAA	KIF4B	-	NULL		0.577	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	G			154393426	1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154393426	G	A	154393426	3	1	9	1	0	0	0	0	1	0	0	0	8324	1175	41	1	9	1	KIF4B	5	154393426	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	121358	154393426	26521834	50	878										
HK3	3101	genome.wustl.edu	37	chr5	176314515	176314515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aagggaggaggcctcccctcGgagccccttggccatggcct	14	15	0	0	rs573086536	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr5:176314515G>A	ENST00000292432.5	-	11	1628	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	513	Catalytic.|Hexokinase type-1 2.			LR -> SE (in Ref. 4; AAC50422). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTCCCCTCGGAGCCCCTTG	0.662													G|||	2	0.000399361	0	0	5008	,	,		16500	0.002		0	False		,,,				2504	0																0													33	32	32					5																	176314515		2203	4300	6503	SO:0001587	stop_gained	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1537C>T	5.37:g.176314515G>A	ENSP00000292432:p.Arg513*		Q8N1E7	Nonsense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R513*	ENST00000292432.5	37	c.1537	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.893470	0.97074	.	.	ENSG00000160883	ENST00000292432	.	.	.	4.3	4.3	0.51218	.	0.761307	0.11248	N	0.583896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6941	6.2866	0.21037	0.1028:0.1899:0.7073:0.0	.	.	.	.	X	513	.	ENSP00000292432:R513X	R	-	1	2	HK3	176247121	0.025000	0.19082	0.405000	0.26409	0.985000	0.73830	0.238000	0.18004	1.936000	0.56123	0.462000	0.41574	CGA	HK3	-	pfam_Hexokinase_N		0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	G			176314515	-1	no_errors	ENST00000292432	ensembl	human	known	70_37	nonsense	SNP	0.039	A	A	176314515	G	A	176314515	4	1	9	1	0	0	0	0	0	1	0	0	7212	1124	39	2	1270	2	HK3	5	176314515	Nonsense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	21921089	176314515	4600745	51	879										
PFDN6	10471	genome.wustl.edu	37	chr6	33258518	33258518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gatacgaatcccagcttcggGatcttgagcggcagtcagag	13	10	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:33258518G>A	ENST00000395131.1	+	5	692	c.286G>A	c.(286-288)Gat>Aat	p.D96N	PFDN6_ENST00000374607.1_Missense_Mutation_p.D96N|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_Missense_Mutation_p.D96N|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374610.2_Missense_Mutation_p.D96N|RGL2_ENST00000437840.2_5'Flank			O15212	PFD6_HUMAN	prefoldin subunit 6	96					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						CCAGCTTCGGGATCTTGAGCG	0.557																																																	0													46	43	44					6																	33258518		2202	4297	6499	SO:0001583	missense	10471			BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"HLA class II region expressed gene KE2", "prefoldin 6"	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.286G>A	6.37:g.33258518G>A	ENSP00000378563:p.Asp96Asn			Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.D96N	ENST00000395131.1	37	c.286	CCDS4773.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296524	0.81025	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.48	5.48	0.80851	Prefoldin beta-like (1);Prefoldin (1);	0.052946	0.64402	D	0.000001	T	0.40040	0.1101	L	0.57130	1.785	0.58432	D	0.999997	P	0.40107	0.703	P	0.47941	0.562	T	0.13818	-1.0495	10	0.42905	T	0.14	.	14.7297	0.69372	0.0:0.0:1.0:0.0	.	96	O15212	PFD6_HUMAN	N	96	ENSP00000378563:D96N;ENSP00000363734:D96N;ENSP00000363738:D96N;ENSP00000363735:D96N	ENSP00000363734:D96N	D	+	1	0	PFDN6	33366496	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	7.734000	0.84928	2.852000	0.98041	0.643000	0.83706	GAT	PFDN6	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.557	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PFDN6	HGNC	protein_coding	OTTHUMT00000276361.1	G	NM_014260		33258518	1	no_errors	ENST00000374606	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33258518	G	A	33258518	3	1	9	1	0	0	0	0	1	0	0	0	11783	1174	41	1	300	1	PFDN6	6	33258518	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		33258518	137856549	52	880										
C6orf130	221443	genome.wustl.edu	37	chr6	41036673	41036673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tttcataagttggcttgtgcGaagcccttttctttgtaatc	8	8	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:41036673G>A	ENST00000479950.1	-	5	576	c.263C>T	c.(262-264)tCg>tTg	p.S88L	OARD1_ENST00000482515.1_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.S88L|OARD1_ENST00000468811.1_Missense_Mutation_p.S88L|OARD1_ENST00000463088.1_Missense_Mutation_p.S88L|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000467234.1_5'Flank|OARD1_ENST00000486443.1_Missense_Mutation_p.S49L|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000480585.1_Intron			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	88	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)										TGGCTTGTGCGAAGCCCTTTT	0.413																																																	0													86	86	86					6																	41036673		2203	4300	6503	SO:0001583	missense	221443			AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"terminal ADP-ribose protein glycohydrolase 1"	614393	"chromosome 6 open reading frame 130"	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.263C>T	6.37:g.41036673G>A	ENSP00000420484:p.Ser88Leu		A6NEK4|A8K4H4|Q96F23	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.S88L	ENST00000479950.1	37	c.263	CCDS34445.1	6	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655501	0.29425	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	6.08	6.08	0.98989	Appr-1-p processing (2);	0.315884	0.34986	N	0.003524	T	0.26048	0.0635	L	0.57536	1.79	0.80722	D	1	P	0.41546	0.754	B	0.37989	0.262	T	0.07195	-1.0785	10	0.11182	T	0.66	-17.8447	17.8194	0.88645	0.0:0.0:1.0:0.0	.	88	Q9Y530	CF130_HUMAN	L	88;88;88;88;49;88	ENSP00000420484:S88L;ENSP00000420193:S88L;ENSP00000416829:S88L;ENSP00000420601:S88L;ENSP00000419175:S49L;ENSP00000420414:S88L	ENSP00000416829:S88L	S	-	2	0	C6orf130	41144651	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	2.902000	0.48703	2.894000	0.99253	0.655000	0.94253	TCG	OARD1	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.413	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OARD1	HGNC	protein_coding	OTTHUMT00000040494.2	G	NM_145063		41036673	-1	no_errors	ENST00000424266	ensembl	human	known	70_37	missense	SNP	0.974	A	A	41036673	G	A	41036673	3	1	9	1	0	0	0	0	1	0	0	0	2334	1059	37	1	203	1	C6orf130	6	41036673	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	7778155	41036673	130078394	53	881										
YIPF3	25844	genome.wustl.edu	37	chr6	43483678	43483678	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttaaagcccttcatgcccagGaactctccatcctcctcttc	4	17	3	0	rs150101467		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:43483678G>C	ENST00000372422.2	-	2	419	c.237C>G	c.(235-237)ttC>ttG	p.F79L	POLR1C_ENST00000304004.3_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.F85L|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	79					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCATGCCCAGGAACTCTCCAT	0.542																																																	0													106	95	99					6																	43483678		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.237C>G	6.37:g.43483678G>C	ENSP00000361499:p.Phe79Leu		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	NULL	p.F79L	ENST00000372422.2	37	c.237	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833915	0.91036	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T	0.44482	0.93;0.93;0.92	5.7	4.82	0.62117	.	0.099730	0.64402	D	0.000001	T	0.48390	0.1497	L	0.60455	1.87	0.80722	D	1	B;D;B	0.56035	0.0;0.974;0.0	B;D;B	0.70487	0.004;0.969;0.001	T	0.52275	-0.8597	10	0.54805	T	0.06	-23.0858	12.1095	0.53831	0.0806:0.0:0.9194:0.0	.	79;85;79	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	L	79;79;85;79;44	ENSP00000361499:F79L;ENSP00000425494:F85L;ENSP00000421461:F79L	ENSP00000259737:F79L	F	-	3	2	YIPF3	43591656	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.102000	0.57776	1.380000	0.46344	0.460000	0.39030	TTC	YIPF3	-	NULL		0.542	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	G	NM_015388		43483678	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43483678	G	C	43483678	3	2	9	1	0	0	0	0	1	0	0	0	17510	1165	41	1	847	1	YIPF3	6	43483678	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	2447005	43483678	127631389	54	882										
HSP90AB1	3326	genome.wustl.edu	37	chr6	44218333	44218333	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgggaagaccacttggcagtCaaggtgtgagaagcctttgc	14	8	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:44218333C>T	ENST00000371554.1	+	6	1168	c.954C>T	c.(952-954)gtC>gtT	p.V318V	HSP90AB1_ENST00000353801.3_Silent_p.V318V|HSP90AB1_ENST00000371646.5_Silent_p.V318V			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	318					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTTGGCAGTCAAGGTGTGAG	0.473																																																	0													59	56	57					6																	44218333		2203	4300	6503	SO:0001819	synonymous_variant	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.954C>T	6.37:g.44218333C>T			B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.V318	ENST00000371554.1	37	c.954	CCDS4909.1	6																																																																																			HSP90AB1	-	pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90		0.473	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	C	NM_007355		44218333	1	no_errors	ENST00000353801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44218333	C	T	44218333	2	4	9	1	0	0	0	0	0	0	0	1	7422	813	29	1		1	HSP90AB1	6	44218333	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	734655	44218333	126896734	55	883										
GPR116	221395	genome.wustl.edu	37	chr6	46828610	46828610	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgtagggagcatctcatcctGagaggggctcttgatcaaag	13	8	3	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:46828610G>C	ENST00000283296.7	-	16	2509	c.2221C>G	c.(2221-2223)Cag>Gag	p.Q741E	GPR116_ENST00000456426.2_Missense_Mutation_p.Q599E|GPR116_ENST00000265417.7_Missense_Mutation_p.Q741E|GPR116_ENST00000545669.1_Missense_Mutation_p.Q170E|GPR116_ENST00000362015.4_Missense_Mutation_p.Q741E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	741					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATCTCATCCTGAGAGGGGCTC	0.423																																					NSCLC(59;410 1274 8751 36715 50546)												0													75	74	74					6																	46828610		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2221C>G	6.37:g.46828610G>C	ENSP00000283296:p.Gln741Glu		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.Q741E	ENST00000283296.7	37	c.2221	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101825	0.20632	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.26373	1.77;2.15;1.78;1.77;1.74	5.68	5.68	0.88126	.	0.236188	0.30003	N	0.010642	T	0.23289	0.0563	M	0.72118	2.19	0.31086	N	0.711312	P;B;P;P;P	0.45768	0.622;0.394;0.61;0.866;0.495	B;B;B;P;B	0.48598	0.364;0.119;0.104;0.583;0.139	T	0.15464	-1.0436	10	0.18276	T	0.48	-5.4759	15.296	0.73910	0.0:0.0:1.0:0.0	.	170;296;741;599;741	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	E	741;741;741;599;112;741;170	ENSP00000283296:Q741E;ENSP00000354563:Q741E;ENSP00000412866:Q599E;ENSP00000265417:Q741E;ENSP00000441581:Q170E	ENSP00000265417:Q741E	Q	-	1	0	GPR116	46936569	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	4.113000	0.57851	2.689000	0.91719	0.655000	0.94253	CAG	GPR116	-	NULL		0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	G	NM_015234		46828610	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.990	C	C	46828610	G	C	46828610	3	2	9	1	0	0	0	0	1	0	0	0	6652	1299	45	1	1843	1	GPR116	6	46828610	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	2610277	46828610	124286457	56	884										
ELOVL5	60481	genome.wustl.edu	37	chr6	53156762	53156762	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccatccttttactctagtatCtgaaaaattaaaaaaaatta	2	7	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:53156762C>G	ENST00000542638.1	-	3	506		c.e3-1		ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					ACTCTAGTATCTGaaaaatta	0.279																																																	0													42	45	44					6																	53156762		2201	4296	6497	SO:0001630	splice_region_variant	60481			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.59-1G>C	6.37:g.53156762C>G			B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	-	e2-1	ENST00000542638.1	37	c.59-1	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354643	0.82243	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53264721	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.324000	0.79115	2.731000	0.93534	0.591000	0.81541	.	ELOVL5	-	-		0.279	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	C	NM_021814	Intron	53156762	-1	no_errors	ENST00000541407	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	53156762	C	G	53156762	5	3	9	1	0	0	0	0	0	0	1	0	5089	927	32	1	865	1	ELOVL5	6	53156762	Splice_Site	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	6328152	53156762	117958305	57	885										
KCNQ5	56479	genome.wustl.edu	37	chr6	73904187	73904187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acttctaggtacagtccataGaatccaagctggactgccta	8	11	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:73904187G>A	ENST00000370398.1	+	14	1958	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	KCNQ5_ENST00000402622.2_Missense_Mutation_p.E627K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E618K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E617K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E507K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.E636K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E608K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	617					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACAGTCCATAGAATCCAAGCT	0.408																																					GBM(142;1375 1859 14391 23261 44706)												0													65	61	62					6																	73904187		2203	4300	6503	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1849G>A	6.37:g.73904187G>A	ENSP00000359425:p.Glu617Lys		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E627K	ENST00000370398.1	37	c.1879	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655207	0.88056	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	5.58	5.58	0.84498	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.052883	0.64402	D	0.000001	D	0.99691	0.9883	M	0.78049	2.395	0.46113	D	0.998873	D;D;D;D;D	0.89917	0.993;1.0;0.966;0.958;0.996	P;D;P;P;D	0.79108	0.786;0.987;0.897;0.835;0.992	D	0.98050	1.0387	10	0.66056	D	0.02	.	19.5623	0.95376	0.0:0.0:1.0:0.0	.	507;627;636;608;617	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	K	636;636;617;617;627;618;608;507	ENSP00000345055:E636K;ENSP00000347326:E617K;ENSP00000359425:E617K;ENSP00000385501:E627K;ENSP00000347853:E618K;ENSP00000384453:E608K;ENSP00000409861:E507K	ENSP00000345055:E636K	E	+	1	0	KCNQ5	73960908	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	9.869000	0.99810	2.620000	0.88729	0.561000	0.74099	GAA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C		0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	G	NM_019842		73904187	1	no_errors	ENST00000402622	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73904187	G	A	73904187	3	1	9	1	0	0	0	0	1	0	0	0	8106	943	33	1	1964	1	KCNQ5	6	73904187	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	20747425	73904187	97210880	58	886										
MCHR2	84539	genome.wustl.edu	37	chr6	100368918	100368918	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggaaatttccactcagcagGatgtagagaaaagggttaat	11	5	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr6:100368918G>A	ENST00000281806.2	-	6	1235	c.921C>T	c.(919-921)atC>atT	p.I307I	MCHR2_ENST00000369212.2_Silent_p.I307I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACTCAGCAGGATGTAGAGAA	0.443																																																	0													142	142	142					6																	100368918		2203	4300	6503	SO:0001819	synonymous_variant	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.921C>T	6.37:g.100368918G>A			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.I307	ENST00000281806.2	37	c.921	CCDS5044.1	6																																																																																			MCHR2	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.443	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100368918	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	silent	SNP	0.998	A	A	100368918	G	A	100368918	2	1	9	1	0	0	0	0	0	0	0	1	9406	1164	41	1		1	MCHR2	6	100368918	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	26464731	100368918	70746149	59	887										
CLIP2	7461	genome.wustl.edu	37	chr7	73814818	73814818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggaggacgccctgcgggatgCgctggaccaggctcagcagg	18	12	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:73814818C>T	ENST00000395060.1	+	14	2999	c.2999C>T	c.(2998-3000)gCg>gTg	p.A1000V	CLIP2_ENST00000361545.5_Missense_Mutation_p.A965V|CLIP2_ENST00000223398.6_Missense_Mutation_p.A1000V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	1000						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CTGCGGGATGCGCTGGACCAG	0.682																																																	0													34	36	35					7																	73814818		2203	4300	6503	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2999C>T	7.37:g.73814818C>T	ENSP00000378500:p.Ala1000Val		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.A1000V	ENST00000395060.1	37	c.2999	CCDS5569.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.964255|3.964255	0.74131|0.74131	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060|ENST00000487447	T;T;T|.	0.68025|.	-0.23;-0.3;-0.23|.	4.72|4.72	2.84|2.84	0.33178|0.33178	.|.	0.059832|.	0.64402|.	D|.	0.000003|.	T|T	0.40372|0.40372	0.1114|0.1114	N|N	0.20986|0.20986	0.625|0.625	0.43360|0.43360	D|D	0.995431|0.995431	D;D|.	0.57257|.	0.979;0.964|.	P;B|.	0.49502|.	0.613;0.408|.	T|T	0.11131|0.11131	-1.0600|-1.0600	10|5	0.51188|.	T|.	0.08|.	-7.0186|-7.0186	8.2677|8.2677	0.31824|0.31824	0.0:0.7513:0.1601:0.0886|0.0:0.7513:0.1601:0.0886	.|.	965;1000|.	Q9UDT6-2;Q9UDT6|.	.;CLIP2_HUMAN|.	V|C	1000;1000;965;1000|3	ENSP00000223398:A1000V;ENSP00000355151:A965V;ENSP00000378500:A1000V|.	ENSP00000223398:A1000V|.	A|R	+|+	2|1	0|0	CLIP2|CLIP2	73452754|73452754	0.999000|0.999000	0.42202|0.42202	0.092000|0.092000	0.20876|0.20876	0.970000|0.970000	0.65996|0.65996	4.353000|4.353000	0.59411|0.59411	0.957000|0.957000	0.37930|0.37930	0.456000|0.456000	0.33151|0.33151	GCG|CGC	CLIP2	-	NULL		0.682	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	C	NM_003388		73814818	1	no_errors	ENST00000223398	ensembl	human	known	70_37	missense	SNP	0.973	T	T	73814818	C	T	73814818	3	4	9	1	0	0	0	0	1	0	0	0	3538	768	27	2	3053	2	CLIP2	7	73814818	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		73814818	85323845	60	888										
MUC17	140453	genome.wustl.edu	37	chr7	100675897	100675897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccattaacaaatatgcctgtCagcaccatattggtggccag	8	11	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:100675897C>T	ENST00000306151.4	+	3	1264	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	400	59 X approximate tandem repeats.|Ser-rich.				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)			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)					ATATGCCTGTCAGCACCATAT	0.463																																																	0													194	204	200					7																	100675897		2203	4300	6503	SO:0001819	synonymous_variant	140453			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.1200C>T	7.37:g.100675897C>T			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.V400	ENST00000306151.4	37	c.1200	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100675897	1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.001	T	T	100675897	C	T	100675897	2	4	9	1	0	0	0	0	0	0	0	1	9997	813	29	1		1	MUC17	7	100675897	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	26861079	100675897	58462766	61	889										
SLC26A5	375611	genome.wustl.edu	37	chr7	103030907	103030907	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	attcaaagaggaatccagttGctaatatgaccagcagaatc	8	8	1	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:103030907G>C	ENST00000306312.3	-	12	1541	c.1280C>G	c.(1279-1281)gCa>gGa	p.A427G	SLC26A5_ENST00000393735.2_Missense_Mutation_p.A427G|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A427G|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A427G|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A390G|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A427G|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A427G|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A427G	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	427					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAATCCAGTTGCTAATATGAC	0.398																																																	0													119	119	119					7																	103030907		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1280C>G	7.37:g.103030907G>C	ENSP00000304783:p.Ala427Gly		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A427G	ENST00000306312.3	37	c.1280	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231398	0.79688	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.92	4.92	0.64577	Sulphate transporter (1);	0.050526	0.85682	D	0.000000	D	0.95316	0.8480	M	0.62016	1.91	0.80722	D	1	P;D;D;D	0.89917	0.941;1.0;0.999;0.999	P;D;D;D	0.79108	0.9;0.992;0.952;0.974	D	0.94690	0.7873	10	0.49607	T	0.09	.	11.5993	0.50993	0.0836:0.0:0.9164:0.0	.	427;427;427;427	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	G	427;427;427;427;427;390;427;427	ENSP00000342396:A427G;ENSP00000377336:A427G;ENSP00000304783:A427G;ENSP00000377331:A427G;ENSP00000389733:A427G;ENSP00000377330:A390G;ENSP00000377328:A427G;ENSP00000377324:A427G	ENSP00000304783:A427G	A	-	2	0	SLC26A5	102818143	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.486000	0.66856	2.427000	0.82271	0.563000	0.77884	GCA	SLC26A5	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.398	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	G	NM_198999		103030907	-1	no_errors	ENST00000306312	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103030907	G	C	103030907	3	2	9	1	0	0	0	0	1	0	0	0	14550	1319	46	4	1031	4	SLC26A5	7	103030907	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	2355010	103030907	56107756	62	890										
MLL5	55904	genome.wustl.edu	37	chr7	104753145	104753145	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tacaacagccgaattcccatCagcaacactctgtagcacat	5	14	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:104753145C>T	ENST00000311117.3	+	27	5487	c.4942C>T	c.(4942-4944)Cag>Tag	p.Q1648*	KMT2E_ENST00000334877.4_Nonsense_Mutation_p.Q1606*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.Q1648*|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1648	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAATTCCCATCAGCAACACTC	0.572																																																	0													125	110	115					7																	104753145		2203	4300	6503	SO:0001587	stop_gained	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4942C>T	7.37:g.104753145C>T	ENSP00000312379:p.Gln1648*		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1648*	ENST00000311117.3	37	c.4942	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	44	10.875819	0.99482	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	.	.	.	2.95	2.95	0.34219	.	0.475989	0.15764	N	0.245789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.3313	0.66559	0.0:1.0:0.0:0.0	.	.	.	.	X	1648;1606;1568;1648	.	ENSP00000257745:Q1648X	Q	+	1	0	MLL5	104540381	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.526000	0.67116	1.620000	0.50308	0.298000	0.19748	CAG	MLL5	-	NULL		0.572	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753145	1	no_errors	ENST00000257745	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	104753145	C	T	104753145	4	4	9	1	0	0	0	0	0	1	0	0	9647	827	29	1	5040	1	MLL5	7	104753145	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	1722238	104753145	54385518	63	891										
DGKI	9162	genome.wustl.edu	37	chr7	137294339	137294339	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttctcttcttcttccgatttGaagccttcagggagttctgt	8	10	5	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:137294339G>C	ENST00000288490.5	-	9	1010	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.S337*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.S37*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.S337*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	337					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTCCGATTTGAAGCCTTCAG	0.453																																																	0													129	109	116					7																	137294339		2203	4300	6503	SO:0001587	stop_gained	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1010C>G	7.37:g.137294339G>C	ENSP00000288490:p.Ser337*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S337*	ENST00000288490.5	37	c.1010	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.869017	0.98534	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	37;285;337;337;337	.	ENSP00000288490:S337X	S	-	2	0	DGKI	136944879	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	7.354000	0.79424	2.657000	0.90304	0.655000	0.94253	TCA	DGKI	-	NULL		0.453	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	G	NM_004717		137294339	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	137294339	G	C	137294339	4	2	9	1	0	0	0	0	0	1	0	0	4481	1294	45	1	2291	1	DGKI	7	137294339	Nonsense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	32541194	137294339	21844324	64	892										
DENND2A	27147	genome.wustl.edu	37	chr7	140273623	140273623	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	attaccttgggtatctttctCttcttcctgccgttctgtgg	8	11	4	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:140273623C>T	ENST00000275884.6	-	5	1848	c.1431G>A	c.(1429-1431)aaG>aaA	p.K477K	DENND2A_ENST00000537639.1_Silent_p.K477K|DENND2A_ENST00000492720.1_Silent_p.K477K|DENND2A_ENST00000496613.1_Silent_p.K477K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	477					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTATCTTTCTCTTCTTCCTGC	0.512																																																	0													184	185	184					7																	140273623		1963	4148	6111	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1431G>A	7.37:g.140273623C>T			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K477	ENST00000275884.6	37	c.1431	CCDS43659.1	7																																																																																			DENND2A	-	NULL		0.512	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140273623	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140273623	C	T	140273623	2	4	9	1	0	0	0	0	0	0	0	1	4439	912	32	1		1	DENND2A	7	140273623	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	2979284	140273623	18865040	65	893										
CTAGE4	100128553	genome.wustl.edu	37	chr7	143881197	143881197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tctgcaagacatttaaaatgAgtgaagaacgacgggctata	10	6	1	4			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:143881197A>G	ENST00000486333.1	+	1	639	c.601A>G	c.(601-603)Agt>Ggt	p.S201G		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	201						integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						ATTTAAAATGAGTGAAGAACG	0.363																																																	0													0	1	1					7																	143881197		0	10	10	SO:0001583	missense	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.601A>G	7.37:g.143881197A>G	ENSP00000419539:p.Ser201Gly		A8K871|O95046	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.S201G	ENST00000486333.1	37	c.601	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	3.612	-0.079262	0.07141	.	.	ENSG00000225932	ENST00000486333	T	0.39406	1.08	.	.	.	.	.	.	.	.	T	0.32133	0.0819	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.25506	0.061	T	0.30765	-0.9967	7	0.38643	T	0.18	.	.	.	.	.	201	Q8IX94	CTGE4_HUMAN	G	201	ENSP00000419539:S201G	ENSP00000419539:S201G	S	+	1	0	CTAGE4	143512130	0.036000	0.19791	0.033000	0.17914	0.033000	0.12548	1.980000	0.40618	0.129000	0.18514	0.128000	0.15822	AGT	CTAGE4	-	superfamily_tRNA-bd_arm		0.363	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	HGNC	protein_coding	OTTHUMT00000349970.1	A	NM_198495		143881197	1	no_errors	ENST00000486333	ensembl	human	known	70_37	missense	SNP	0.036	G	G	143881197	A	G	143881197	3	3	9	1	0	0	0	0	1	0	0	0	3998	304	11	5	603	5	CTAGE4	7	143881197	Missense_Mutation	SNP	A	TCGA-C5-A1BK-01B-11D-A13W-08	3607574	143881197	15257466	66	894										
UBE3C	9690	genome.wustl.edu	37	chr7	156976679	156976679	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gctgtcacgactcagccagtGactctgaggaggagagtgaa	14	9	3	4			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr7:156976679G>A	ENST00000348165.5	+	9	1459	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	UBE3C_ENST00000389103.4_Missense_Mutation_p.D324N	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	367					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTCAGCCAGTGACTCTGAGGA	0.622																																																	0													97	108	104					7																	156976679		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1099G>A	7.37:g.156976679G>A	ENSP00000309198:p.Asp367Asn		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.D367N	ENST00000348165.5	37	c.1099	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698109	0.88830	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.53423	0.62	5.13	4.24	0.50183	.	0.248295	0.46145	D	0.000311	T	0.60534	0.2276	L	0.60455	1.87	0.58432	D	0.999999	B;D;D	0.71674	0.22;0.979;0.998	B;P;P	0.62740	0.102;0.789;0.906	T	0.60100	-0.7329	10	0.41790	T	0.15	-20.9765	13.9951	0.64392	0.0743:0.0:0.9257:0.0	.	367;367;324	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	N	367;324	ENSP00000309198:D367N	ENSP00000309198:D367N	D	+	1	0	UBE3C	156669440	1.000000	0.71417	0.984000	0.44739	0.823000	0.46562	6.233000	0.72320	2.388000	0.81334	0.591000	0.81541	GAC	UBE3C	-	NULL		0.622	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		156976679	1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156976679	G	A	156976679	3	1	9	1	0	0	0	0	1	0	0	0	16912	1290	45	1	1133	1	UBE3C	7	156976679	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	13095482	156976679	2161984	67	895										
MYST3	7994	genome.wustl.edu	37	chr8	41906386	41906386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gatccaagccatgggatgaaGacacagcattgcatatcctt	9	10	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:41906386G>T	ENST00000396930.3	-	3	653	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	KAT6A_ENST00000265713.2_Missense_Mutation_p.S37Y|KAT6A_ENST00000406337.1_Missense_Mutation_p.S37Y|KAT6A_ENST00000485568.1_Missense_Mutation_p.S37Y	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	37	Required for activation of RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGGGATGAAGACACAGCATT	0.388																																																	0													226	213	218					8																	41906386		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.110C>A	8.37:g.41906386G>T	ENSP00000380136:p.Ser37Tyr		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S37Y	ENST00000396930.3	37	c.110	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392128	0.42410	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84730	0.15;0.15;0.15;-1.89	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	D	0.90861	0.7129	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.76494	0.997;0.999	D;D	0.68192	0.929;0.956	D	0.91107	0.4919	10	0.72032	D	0.01	-13.1176	19.7395	0.96220	0.0:0.0:1.0:0.0	.	37;37	A5PLL3;Q92794	.;KAT6A_HUMAN	Y	37	ENSP00000265713:S37Y;ENSP00000385888:S37Y;ENSP00000380136:S37Y;ENSP00000430606:S37Y	ENSP00000265713:S37Y	S	-	2	0	KAT6A	42025543	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.365000	0.79537	2.669000	0.90835	0.655000	0.94253	TCT	KAT6A	-	NULL		0.388	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	G	NM_006766		41906386	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41906386	G	T	41906386	3	4	9	1	0	0	0	0	1	0	0	0	10127	942	33	3	5968	3	MYST3	8	41906386	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		41906386	104457636	68	896										
GGH	8836	genome.wustl.edu	37	chr8	63948246	63948246	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aactctcgcacctgcagactCcaagtactttacataggacg	7	13	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:63948246C>G	ENST00000260118.6	-	2	595	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	65	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CCTGCAGACTCCAAGTACTTT	0.353																																																	0													117	111	113					8																	63948246		2203	4300	6503	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.193G>C	8.37:g.63948246C>G	ENSP00000260118:p.Glu65Gln			Missense_Mutation	SNP	pfam_Peptidase_C26,pfam_GATASE_1	p.E65Q	ENST00000260118.6	37	c.193	CCDS6177.1	8	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595711	0.86953	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.48522	0.81	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.65138	-0.6241	10	0.32370	T	0.25	-13.5146	17.6477	0.88153	0.0:1.0:0.0:0.0	.	65	Q92820	GGH_HUMAN	Q	65;26	ENSP00000260118:E65Q	ENSP00000260118:E65Q	E	-	1	0	GGH	64110800	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.328000	0.65887	2.907000	0.99374	0.609000	0.83330	GAG	GGH	-	pfam_Peptidase_C26,pfam_GATASE_1		0.353	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	C			63948246	-1	no_errors	ENST00000260118	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63948246	C	G	63948246	3	3	9	1	0	0	0	0	1	0	0	0	6376	864	30	1	795	1	GGH	8	63948246	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	22041860	63948246	82415776	69	897										
ARMC1	55156	genome.wustl.edu	37	chr8	66525572	66525572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gctttccttcgacgtgaattCatctcattaaaactatcacc	4	12	3	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:66525572C>T	ENST00000276569.3	-	4	616	c.372G>A	c.(370-372)atG>atA	p.M124I	ARMC1_ENST00000523384.1_Intron|ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	124					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.M124I(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GACGTGAATTCATCTCATTAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											149	139	143					8																	66525572		2203	4300	6503	SO:0001583	missense	55156			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.372G>A	8.37:g.66525572C>T	ENSP00000276569:p.Met124Ile		B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.M124I	ENST00000276569.3	37	c.372	CCDS6181.1	8	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522770	0.44866	.	.	ENSG00000104442	ENST00000276569;ENST00000518908	T;T	0.39592	1.07;1.07	6.02	5.14	0.70334	.	0.238814	0.56097	N	0.000028	T	0.40719	0.1128	L	0.51422	1.61	0.80722	D	1	B	0.19817	0.039	B	0.18263	0.021	T	0.16571	-1.0398	10	0.35671	T	0.21	.	16.8946	0.86097	0.1289:0.8711:0.0:0.0	.	124	Q9NVT9	ARMC1_HUMAN	I	124	ENSP00000276569:M124I;ENSP00000429191:M124I	ENSP00000276569:M124I	M	-	3	0	ARMC1	66688126	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.060000	0.30530	1.535000	0.49220	0.655000	0.94253	ATG	ARMC1	-	pirsf_UCP013899_metal-bd		0.398	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	C	NM_018120		66525572	-1	no_errors	ENST00000276569	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66525572	C	T	66525572	3	4	9	1	0	0	0	0	1	0	0	0	950	826	29	1	492	1	ARMC1	8	66525572	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	2577326	66525572	79838450	70	898										
ZFHX4	79776	genome.wustl.edu	37	chr8	77763459	77763459	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aacctctgccagcgcagtttCcgtacattccaggctttaaa	7	13	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:77763459C>T	ENST00000521891.2	+	10	4750	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F	ZFHX4_ENST00000518282.1_Silent_p.F1408F|ZFHX4_ENST00000050961.6_Silent_p.F1389F|ZFHX4_ENST00000455469.2_Silent_p.F1389F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCAGTTTCCGTACATTCC	0.468										HNSCC(33;0.089)																																							0													44	41	42					8																	77763459		1935	4147	6082	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4302C>T	8.37:g.77763459C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F1434	ENST00000521891.2	37	c.4302	CCDS47878.2	8																																																																																			ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77763459	1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77763459	C	T	77763459	2	4	9	1	0	0	0	0	0	0	0	1	17665	854	30	1		1	ZFHX4	8	77763459	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	11237887	77763459	68600563	71	899										
OSGIN2	734	genome.wustl.edu	37	chr8	90937101	90937101	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttgtgtttcattcaatgcctGaatttggagctgctataaac	8	7	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:90937101G>C	ENST00000297438.2	+	6	1214	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	OSGIN2_ENST00000451899.2_Missense_Mutation_p.E331Q	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	287					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCAATGCCTGAATTTGGAGC	0.468																																																	0													121	115	117					8																	90937101		2203	4299	6502	SO:0001583	missense	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.859G>C	8.37:g.90937101G>C	ENSP00000297438:p.Glu287Gln			Missense_Mutation	SNP	NULL	p.E331Q	ENST00000297438.2	37	c.991	CCDS6248.1	8	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685594	0.68157	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.74315	-0.83;-0.83	5.48	5.48	0.80851	.	0.130725	0.64402	D	0.000001	T	0.77519	0.4142	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58660	0.843;0.832	T	0.76688	-0.2867	10	0.39692	T	0.17	-23.563	19.3615	0.94440	0.0:0.0:1.0:0.0	.	331;287	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	Q	287;331	ENSP00000297438:E287Q;ENSP00000396445:E331Q	ENSP00000297438:E287Q	E	+	1	0	OSGIN2	91006276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.587000	0.87381	0.650000	0.86243	GAA	OSGIN2	-	NULL		0.468	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	G	NM_004337		90937101	1	no_errors	ENST00000451899	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90937101	G	C	90937101	3	2	9	1	0	0	0	0	1	0	0	0	11314	1291	45	1	1013	1	OSGIN2	8	90937101	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	13173642	90937101	55426921	72	900										
RNF19A	25897	genome.wustl.edu	37	chr8	101273866	101273866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccgtttcactcaggttgtctCggatggctcctattcgatcc	9	13	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr8:101273866C>T	ENST00000519449.1	-	9	1902	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.R529Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	529					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAGGTTGTCTCGGATGGCTCC	0.527																																																	0													177	131	146					8																	101273866		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1586G>A	8.37:g.101273866C>T	ENSP00000428968:p.Arg529Gln		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R529Q	ENST00000519449.1	37	c.1586	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.260261	0.95368	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84298	-1.83;-1.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	L	0.44542	1.39	0.58432	D	0.999999	D	0.71674	0.998	P	0.50860	0.652	T	0.82339	-0.0506	10	0.21540	T	0.41	.	18.6531	0.91439	0.0:1.0:0.0:0.0	.	529	Q9NV58	RN19A_HUMAN	Q	529	ENSP00000428968:R529Q;ENSP00000342667:R529Q	ENSP00000342667:R529Q	R	-	2	0	RNF19A	101343042	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.085000	0.71343	2.512000	0.84698	0.591000	0.81541	CGA	RNF19A	-	NULL		0.527	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	C	NM_015435		101273866	-1	no_errors	ENST00000341084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101273866	C	T	101273866	3	4	9	1	0	0	0	0	1	0	0	0	13500	884	31	1	942	1	RNF19A	8	101273866	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	10336765	101273866	45090156	73	901										
OGN	4969	genome.wustl.edu	37	chr9	95155461	95155461	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggtaagggtggtacagcatCaatgtcaacttcttcacagt	10	8	4	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:95155461C>T	ENST00000262551.4	-	4	754	c.334G>A	c.(334-336)Gat>Aat	p.D112N	OGN_ENST00000375561.5_Missense_Mutation_p.D112N|OGN_ENST00000468743.1_5'Flank|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	112					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GGTACAGCATCAATGTCAACT	0.368																																																	0													139	122	128					9																	95155461		2203	4300	6503	SO:0001583	missense	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.334G>A	9.37:g.95155461C>T	ENSP00000262551:p.Asp112Asn		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D112N	ENST00000262551.4	37	c.334	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608118	0.46527	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	D;D;D	0.83419	-1.72;-1.72;-1.72	5.08	5.08	0.68730	Leucine-rich repeat-containing N-terminal (1);	0.547135	0.21100	N	0.080165	T	0.79759	0.4501	L	0.54323	1.7	0.33953	D	0.644733	B;B	0.32302	0.242;0.363	B;B	0.24701	0.055;0.055	T	0.82942	-0.0207	10	0.34782	T	0.22	.	18.8517	0.92235	0.0:1.0:0.0:0.0	.	170;112	B4DI63;P20774	.;MIME_HUMAN	N	112;112;170	ENSP00000262551:D112N;ENSP00000364711:D112N;ENSP00000396709:D170N	ENSP00000262551:D112N	D	-	1	0	OGN	94195282	0.864000	0.29904	0.993000	0.49108	0.507000	0.33981	2.165000	0.42396	2.547000	0.85894	0.650000	0.86243	GAT	OGN	-	NULL		0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	C	NM_024416		95155461	-1	no_errors	ENST00000262551	ensembl	human	known	70_37	missense	SNP	0.993	T	T	95155461	C	T	95155461	3	4	9	1	0	0	0	0	1	0	0	0	10870	826	29	1	578	1	OGN	9	95155461	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		95155461	46057970	74	902										
PTPN3	5774	genome.wustl.edu	37	chr9	112200443	112200443	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgttaaaaagtcctcattttGatcgggtataaagtgactat	8	5	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:112200443G>C	ENST00000374541.2	-	8	642	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	PTPN3_ENST00000262539.3_Missense_Mutation_p.Q71E|PTPN3_ENST00000446349.1_Missense_Mutation_p.Q49E|PTPN3_ENST00000412145.1_Missense_Mutation_p.Q49E	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	180	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTCATTTTGATCGGGTATA	0.438																																																	0													85	88	87					9																	112200443		2203	4300	6503	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.538C>G	9.37:g.112200443G>C	ENSP00000363667:p.Gln180Glu		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.Q180E	ENST00000374541.2	37	c.538	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044372	0.75732	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	6.03	0.97812	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.77616	2.38	0.80722	D	1	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.81914	0.995;0.975;0.983	D	0.89006	0.3425	10	0.87932	D	0	.	19.3283	0.94273	0.0:0.0:1.0:0.0	.	71;180;180	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	E	180;49;49;180;71	ENSP00000416654:Q49E;ENSP00000395384:Q49E;ENSP00000363667:Q180E;ENSP00000262539:Q71E	ENSP00000262539:Q71E	Q	-	1	0	PTPN3	111240264	1.000000	0.71417	0.996000	0.52242	0.370000	0.29829	7.717000	0.84732	2.861000	0.98227	0.655000	0.94253	CAA	PTPN3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain		0.438	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	G			112200443	-1	no_errors	ENST00000374541	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112200443	G	C	112200443	3	2	9	1	0	0	0	0	1	0	0	0	12819	1299	45	1	2279	1	PTPN3	9	112200443	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	17044982	112200443	29012988	75	903										
RAB14	51552	genome.wustl.edu	37	chr9	123952910	123952910	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cagccctaaatcgctcctgtCctgccgtatcccaaatctgc	6	17	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:123952910C>G	ENST00000373840.4	-	4	443	c.206G>C	c.(205-207)gGa>gCa	p.G69A		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	69					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCGCTCCTGTCCTGCCGTATC	0.423																																																	0													111	110	110					9																	123952910		2203	4300	6503	SO:0001583	missense	51552			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"RAB, member RAS oncogene"	16524	protein-coding gene	gene with protein product	"F protein-binding protein 1", "bA165P4.3 (member RAS oncogene family)", "small GTP binding protein RAB14"	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.206G>C	9.37:g.123952910C>G	ENSP00000362946:p.Gly69Ala		B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G69A	ENST00000373840.4	37	c.206	CCDS6827.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.111883	0.94339	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	D;D	0.93488	-3.23;-3.23	5.37	5.37	0.77165	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.96833	3.89	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99376	1.0921	10	0.87932	D	0	.	18.1072	0.89524	0.0:1.0:0.0:0.0	.	69	P61106	RAB14_HUMAN	A	69	ENSP00000362946:G69A;ENSP00000400107:G69A	ENSP00000362946:G69A	G	-	2	0	RAB14	122992731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.512000	0.84698	0.650000	0.86243	GGA	RAB14	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB14	HGNC	protein_coding	OTTHUMT00000053857.1	C	NM_016322		123952910	-1	no_errors	ENST00000373840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123952910	C	G	123952910	3	3	9	1	0	0	0	0	1	0	0	0	12930	855	30	1	461	1	RAB14	9	123952910	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	11752467	123952910	17260521	76	904										
STXBP1	6812	genome.wustl.edu	37	chr9	130428485	130428485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccagctcctgatcctggatcGaggctttgaccccagctccc	9	17	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr9:130428485G>A	ENST00000373299.1	+	9	819	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	STXBP1_ENST00000373302.3_Missense_Mutation_p.R235Q	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	235					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ATCCTGGATCGAGGCTTTGAC	0.522																																																	0													110	96	101					9																	130428485		2203	4300	6503	SO:0001583	missense	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.704G>A	9.37:g.130428485G>A	ENSP00000362396:p.Arg235Gln		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R235Q	ENST00000373299.1	37	c.704	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.820164	0.96989	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	D;D	0.99239	-5.61;-5.61	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97620	1.0135	10	0.87932	D	0	-14.7911	17.3903	0.87428	0.0:0.0:1.0:0.0	.	235;235	P61764;P61764-2	STXB1_HUMAN;.	Q	189;235;67;235	ENSP00000362399:R235Q;ENSP00000362396:R235Q	ENSP00000362396:R235Q	R	+	2	0	STXBP1	129468306	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	9.758000	0.98927	2.717000	0.92951	0.655000	0.94253	CGA	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.522	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	G	NM_003165		130428485	1	no_errors	ENST00000373299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130428485	G	A	130428485	3	1	9	1	0	0	0	0	1	0	0	0	15382	1058	37	1	738	1	STXBP1	9	130428485	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	6475575	130428485	10784946	77	905										
FAM171A1	221061	genome.wustl.edu	37	chr10	15255945	15255945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gaaggacgtaggtctctcgaGgtgatctactgatcgcgaca	13	9	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:15255945G>A	ENST00000378116.4	-	8	1648	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	548						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGTCTCTCGAGGTGATCTACT	0.537																																																	0													139	140	140					10																	15255945		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1642C>T	10.37:g.15255945G>A	ENSP00000367356:p.Leu548Phe		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.L548F	ENST00000378116.4	37	c.1642	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154063	0.57259	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.39406	1.08	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69840	-0.5036	10	0.72032	D	0.01	-23.2172	19.6296	0.95694	0.0:0.0:1.0:0.0	.	548	Q5VUB5	F1711_HUMAN	F	548;547	ENSP00000367356:L548F	ENSP00000367356:L548F	L	-	1	0	FAM171A1	15295951	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	5.624000	0.67764	2.873000	0.98535	0.563000	0.77884	CTC	FAM171A1	-	pfam_Uncharacterised_FAM171		0.537	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15255945	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15255945	G	A	15255945	3	1	9	1	0	0	0	0	1	0	0	0	5505	1000	35	4	1034	4	FAM171A1	10	15255945	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		15255945	120278802	78	906										
CUBN	8029	genome.wustl.edu	37	chr10	16957870	16957870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agtctttttcacagccagaaGaattctgaaggttaaagtct	8	7	4	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:16957870G>A	ENST00000377833.4	-	46	7225	c.7160C>T	c.(7159-7161)tCt>tTt	p.S2387F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2387	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGCCAGAAGAATTCTGAAG	0.408																																																	0													82	83	83					10																	16957870		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7160C>T	10.37:g.16957870G>A	ENSP00000367064:p.Ser2387Phe		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.S2387F	ENST00000377833.4	37	c.7160	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110227	0.77210	.	.	ENSG00000107611	ENST00000377833	T	0.19532	2.14	5.62	5.62	0.85841	CUB (5);	0.000000	0.46442	D	0.000295	T	0.55893	0.1949	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62177	-0.6909	10	0.62326	D	0.03	.	19.7315	0.96183	0.0:0.0:1.0:0.0	.	2387	O60494	CUBN_HUMAN	F	2387	ENSP00000367064:S2387F	ENSP00000367064:S2387F	S	-	2	0	CUBN	16997876	1.000000	0.71417	0.987000	0.45799	0.568000	0.35870	7.329000	0.79170	2.689000	0.91719	0.644000	0.83932	TCT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		16957870	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16957870	G	A	16957870	3	1	9	1	0	0	0	0	1	0	0	0	4056	942	33	1	3799	1	CUBN	10	16957870	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1701925	16957870	118576877	79	907										
PLXDC2	84898	genome.wustl.edu	37	chr10	20466004	20466004	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	attaccaacatttcggctgtGgagatgaccccattacccag	8	12	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:20466004G>T	ENST00000377252.4	+	8	1801	c.960G>T	c.(958-960)gtG>gtT	p.V320V	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.V271V	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	320					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTCGGCTGTGGAGATGACCC	0.328																																																	0													93	94	93					10																	20466004		2203	4300	6503	SO:0001819	synonymous_variant	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.960G>T	10.37:g.20466004G>T			Q96E59|Q96PD9|Q96SU9	Silent	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.V320	ENST00000377252.4	37	c.960	CCDS7132.1	10																																																																																			PLXDC2	-	NULL		0.328	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	G	NM_032812		20466004	1	no_errors	ENST00000377252	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20466004	G	T	20466004	2	4	9	1	0	0	0	0	0	0	0	1	12142	1335	47	4		4	PLXDC2	10	20466004	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	3508134	20466004	115068743	80	908										
RHOBTB1	9886	genome.wustl.edu	37	chr10	62632020	62632020	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgcagatgtggtgcaaacacCaggcggccaactggtgggca	15	10	0	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:62632020C>T	ENST00000337910.5	-	10	2181	c.1844G>A	c.(1843-1845)tGg>tAg	p.W615*	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Nonsense_Mutation_p.W615*	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	615					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGCAAACACCAGGCGGCCAA	0.473																																																	0													141	135	137					10																	62632020		2203	4300	6503	SO:0001587	stop_gained	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1844G>A	10.37:g.62632020C>T	ENSP00000338671:p.Trp615*			Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.W615*	ENST00000337910.5	37	c.1844	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	C	44	10.781683	0.99466	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	.	.	.	X	615	.	ENSP00000338671:W615X	W	-	2	0	RHOBTB1	62302026	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.787000	0.85759	2.640000	0.89533	0.561000	0.74099	TGG	RHOBTB1	-	NULL		0.473	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	C			62632020	-1	no_errors	ENST00000337910	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	62632020	C	T	62632020	4	4	9	1	0	0	0	0	0	1	0	0	13363	595	21	4	254	4	RHOBTB1	10	62632020	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	42166016	62632020	72902727	81	909										
MYOF	26509	genome.wustl.edu	37	chr10	95113616	95113616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gaggtttctggcttgatagaCatagcagcgcagatggtaga	14	6	1	4			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:95113616C>T	ENST00000359263.4	-	32	3432	c.3433G>A	c.(3433-3435)Gtc>Atc	p.V1145I	MYOF_ENST00000371501.4_Missense_Mutation_p.V1145I|MYOF_ENST00000371502.4_Missense_Mutation_p.V1145I|MYOF_ENST00000358334.5_Missense_Mutation_p.V1132I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1145	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTTGATAGACATAGCAGCGC	0.348																																																	0													134	128	130					10																	95113616		1855	4106	5961	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3433G>A	10.37:g.95113616C>T	ENSP00000352208:p.Val1145Ile		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.V1145I	ENST00000359263.4	37	c.3433	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	3.016	-0.202761	0.06219	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.95	3.66	0.41972	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.296983	0.37577	N	0.002022	T	0.49406	0.1555	N	0.21373	0.66	0.33806	D	0.627316	B;B	0.02656	0.0;0.0	B;B	0.15052	0.002;0.012	T	0.48592	-0.9022	10	0.02654	T	1	-11.8237	9.4418	0.38673	0.0:0.21:0.0:0.79	.	1132;1145	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	I	1132;1145;1145;1145	ENSP00000351094:V1132I;ENSP00000352208:V1145I;ENSP00000360556:V1145I;ENSP00000360557:V1145I	ENSP00000351094:V1132I	V	-	1	0	MYOF	95103606	0.015000	0.18098	0.732000	0.30844	0.887000	0.51463	0.158000	0.16422	0.523000	0.28482	-0.471000	0.05019	GTC	MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.348	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	C	NM_013451		95113616	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	0.869	T	T	95113616	C	T	95113616	3	4	9	1	0	0	0	0	1	0	0	0	10112	478	17	4	2844	4	MYOF	10	95113616	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	32481596	95113616	40421131	82	910										
TLL2	7093	genome.wustl.edu	37	chr10	98129927	98129927	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tcctcctcaacctcaaaggtCcggaatgtcagctccacgcc	7	17	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:98129927C>T	ENST00000357947.3	-	20	3033	c.2808G>A	c.(2806-2808)cgG>cgA	p.R936R		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	936	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCAAAGGTCCGGAATGTCA	0.632																																																	0													95	79	84					10																	98129927		2203	4300	6503	SO:0001819	synonymous_variant	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2808G>A	10.37:g.98129927C>T			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R936	ENST00000357947.3	37	c.2808	CCDS7449.1	10																																																																																			TLL2	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.632	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98129927	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	silent	SNP	0.806	T	T	98129927	C	T	98129927	2	4	9	1	0	0	0	0	0	0	0	1	15976	842	30	1		1	TLL2	10	98129927	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	3016311	98129927	37404820	83	911										
TDRD1	56165	genome.wustl.edu	37	chr10	115986992	115986992	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atgggactgtcgatgtagctGataagctagtgacatttggt	13	5	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:115986992G>C	ENST00000251864.2	+	23	3490	c.3337G>C	c.(3337-3339)Gat>Cat	p.D1113H	TDRD1_ENST00000369281.2_Missense_Mutation_p.D999H|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1113					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGATGTAGCTGATAAGCTAGT	0.363																																																	0													163	152	156					10																	115986992		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3337G>C	10.37:g.115986992G>C	ENSP00000251864:p.Asp1113His		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.D1113H	ENST00000251864.2	37	c.3337	CCDS7588.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380294	0.42207	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.20881	2.71;2.04	6.07	3.11	0.35812	.	0.258920	0.37530	N	0.002044	T	0.33876	0.0878	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.71674	0.99;0.995;0.994;0.998	P;P;P;P	0.61592	0.688;0.688;0.835;0.891	T	0.05022	-1.0911	10	0.72032	D	0.01	-7.5067	8.9079	0.35535	0.2438:0.0:0.7562:0.0	.	1113;999;1113;999	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	H	1113;999	ENSP00000251864:D1113H;ENSP00000358287:D999H	ENSP00000251864:D1113H	D	+	1	0	TDRD1	115976982	0.776000	0.28616	0.970000	0.41538	0.162000	0.22319	0.909000	0.28558	0.842000	0.35045	0.650000	0.86243	GAT	TDRD1	-	NULL		0.363	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD1	HGNC	protein_coding		G			115986992	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.999	C	C	115986992	G	C	115986992	3	2	9	1	0	0	0	0	1	0	0	0	15760	1290	45	1	3423	1	TDRD1	10	115986992	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	17857065	115986992	19547755	84	912										
DMBT1	1755	genome.wustl.edu	37	chr10	124348625	124348625	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gggctgtggctgggccacgtCagccccaggaaatgcccggt	16	13	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr10:124348625C>A	ENST00000338354.3	+	17	2055	c.1949C>A	c.(1948-1950)tCa>tAa	p.S650*	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S640*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S650*|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S640*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	650	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCCACGTCAGCCCCAGGA	0.607																																					Ovarian(182;93 2026 18125 22222 38972)												0													222	169	187					10																	124348625		2016	4115	6131	SO:0001587	stop_gained	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1949C>A	10.37:g.124348625C>A	ENSP00000342210:p.Ser650*		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.S650*	ENST00000338354.3	37	c.1949		10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558468	0.86231	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	.	.	.	4.19	3.26	0.37387	.	0.331896	0.21803	N	0.068884	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1085	0.06350	0.1612:0.4416:0.2982:0.099	.	.	.	.	X	650;650;650;650;650;650;640;650;640	.	ENSP00000342210:S650X	S	+	2	0	DMBT1	124338615	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	-1.385000	0.02540	2.049000	0.60858	0.485000	0.47835	TCA	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124348625	1	no_errors	ENST00000368915	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	124348625	C	A	124348625	4	1	9	1	0	0	0	0	0	1	0	0	4587	838	29	3	2015	3	DMBT1	10	124348625	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	8361633	124348625	11186122	85	913										
PKP3	11187	genome.wustl.edu	37	chr11	399985	399985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agggatcctgtggaacctttCatccagcgaccacctgaagg	11	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:399985C>T	ENST00000331563.2	+	6	1368	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	431					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAACCTTTCATCCAGCGAC	0.667																																																	0													25	24	24					11																	399985		2168	4277	6445	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1292C>T	11.37:g.399985C>T	ENSP00000331678:p.Ser431Leu		F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S431L	ENST00000331563.2	37	c.1292	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	18.90	3.721233	0.68959	.	.	ENSG00000184363	ENST00000331563	T	0.51817	0.69	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.74450	0.3718	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82188	-0.0581	10	0.87932	D	0	-14.9343	16.9419	0.86220	0.0:1.0:0.0:0.0	.	431	Q9Y446	PKP3_HUMAN	L	431	ENSP00000331678:S431L	ENSP00000331678:S431L	S	+	2	0	PKP3	389985	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	7.520000	0.81821	2.061000	0.61500	0.543000	0.68304	TCA	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo		0.667	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		399985	1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	1.000	T	T	399985	C	T	399985	3	4	9	1	0	0	0	0	1	0	0	0	12010	838	29	1	1314	1	PKP3	11	399985	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		399985	134606531	86	914										
TMEM80	283232	genome.wustl.edu	37	chr11	703087	703087	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgggccctcagcgccacgctCctggcccttcacggcctgga	12	18	2	0	rs560710224		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:703087C>T	ENST00000608174.1	+	5	581	c.444C>T	c.(442-444)ctC>ctT	p.L148L	TMEM80_ENST00000397510.3_Silent_p.L196L|TMEM80_ENST00000528024.1_3'UTR|TMEM80_ENST00000397512.3_Silent_p.L140L	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	148						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCCACGCTCCTGGCCCTTC	0.697													C|||	1	0.000199681	0	0	5008	,	,		16948	0		0	False		,,,				2504	0.001																0													21	22	22					11																	703087		2199	4286	6485	SO:0001819	synonymous_variant	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.444C>T	11.37:g.703087C>T			A8MQ01|A8MXY8|B7WNU5	Silent	SNP	pfam_Uncharacterised_TM-17	p.L148	ENST00000608174.1	37	c.444	CCDS41587.1	11																																																																																			TMEM80	-	pfam_Uncharacterised_TM-17		0.697	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	C	NM_174940		703087	1	no_errors	ENST00000397510	ensembl	human	known	70_37	silent	SNP	0.152	T	T	703087	C	T	703087	2	4	9	1	0	0	0	0	0	0	0	1	16234	842	30	1		1	TMEM80	11	703087	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	303102	703087	134303429	87	915										
APBB1	322	genome.wustl.edu	37	chr11	6417049	6417049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgcacagcctctgagaggctGgcagcattgggctcgcacca	13	13	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:6417049G>A	ENST00000609360.1	-	14	2031	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A	APBB1_ENST00000299402.6_Silent_p.A642A|APBB1_ENST00000608655.1_Silent_p.A424A|APBB1_ENST00000609331.1_Silent_p.A409A|APBB1_ENST00000389906.2_Silent_p.A644A|APBB1_ENST00000529519.1_Silent_p.A169A|APBB1_ENST00000530885.1_Silent_p.A422A|APBB1_ENST00000608394.1_Silent_p.A385A|APBB1_ENST00000608645.1_Silent_p.A385A|APBB1_ENST00000608704.1_Silent_p.A385A|APBB1_ENST00000526240.1_5'UTR|APBB1_ENST00000311051.3_Silent_p.A642A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	644	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGAGAGGCTGGCAGCATTGG	0.622																																					GBM(147;1810 2556 5672 39622)												0													64	68	67					11																	6417049		2200	4296	6496	SO:0001819	synonymous_variant	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1932C>T	11.37:g.6417049G>A			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.A644	ENST00000609360.1	37	c.1932		11																																																																																			APBB1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.622	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	G	NM_001164		6417049	-1	no_errors	ENST00000389906	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6417049	G	A	6417049	2	1	9	1	0	0	0	0	0	0	0	1	759	1335	47	4		4	APBB1	11	6417049	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	5713962	6417049	128589467	88	916										
SERPING1	710	genome.wustl.edu	37	chr11	57369616	57369616	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cacgaccaaaggtgtcacctCagtctctcagatcttccaca	6	15	5	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:57369616C>T	ENST00000278407.4	+	4	886	c.659C>T	c.(658-660)tCa>tTa	p.S220L	SERPING1_ENST00000378323.4_Missense_Mutation_p.S225L|SERPING1_ENST00000378324.2_Missense_Mutation_p.S168L|SERPING1_ENST00000340687.6_Missense_Mutation_p.S220L|SERPING1_ENST00000531605.1_3'UTR|SERPING1_ENST00000403558.1_Missense_Mutation_p.S254L	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	220					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGTGTCACCTCAGTCTCTCAG	0.582																																																	0													94	78	84					11																	57369616		2201	4296	6497	SO:0001583	missense	710			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.659C>T	11.37:g.57369616C>T	ENSP00000278407:p.Ser220Leu		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S220L	ENST00000278407.4	37	c.659	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067843	0.76301	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.58	4.66	0.58398	Serpin domain (3);	0.196582	0.43919	D	0.000516	T	0.79347	0.4430	L	0.31157	0.91	0.09310	N	1	P;D;P;P	0.55800	0.46;0.973;0.46;0.46	B;P;B;B	0.53146	0.233;0.719;0.233;0.233	T	0.69771	-0.5055	10	0.33940	T	0.23	.	9.395	0.38397	0.0:0.9053:0.0:0.0947	.	225;254;220;220	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	L	220;220;225;168;254	ENSP00000278407:S220L;ENSP00000341861:S220L;ENSP00000367574:S225L;ENSP00000367575:S168L;ENSP00000384420:S254L	ENSP00000278407:S220L	S	+	2	0	SERPING1	57126192	0.008000	0.16893	0.755000	0.31263	0.936000	0.57629	2.149000	0.42244	2.628000	0.89032	0.591000	0.81541	TCA	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.582	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	C	NM_000062		57369616	1	no_errors	ENST00000278407	ensembl	human	known	70_37	missense	SNP	0.041	T	T	57369616	C	T	57369616	3	4	9	1	0	0	0	0	1	0	0	0	14146	838	29	1	669	1	SERPING1	11	57369616	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	50952567	57369616	77636900	89	917										
RCE1	9986	genome.wustl.edu	37	chr11	66612502	66612502	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cacctgcccgctcttttttgGagttggtgagtctggccaga	12	11	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:66612502G>C	ENST00000309657.3	+	5	658	c.614G>C	c.(613-615)gGa>gCa	p.G205A	RCE1_ENST00000525356.1_Missense_Mutation_p.G82A|RCE1_ENST00000524506.1_Missense_Mutation_p.G205A	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	205					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTCTTTTTTGGAGTTGGTGAG	0.597																																																	0													58	50	52					11																	66612502		2200	4295	6495	SO:0001583	missense	9986			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.614G>C	11.37:g.66612502G>C	ENSP00000309163:p.Gly205Ala		Q52LZ9	Missense_Mutation	SNP	pfam_CAAX_protease	p.G205A	ENST00000309657.3	37	c.614	CCDS8151.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286817	0.80803	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65352	-0.6189	9	0.35671	T	0.21	-3.8857	14.9272	0.70887	0.0:0.0:1.0:0.0	.	205	Q9Y256	FACE2_HUMAN	A	205;205;82	.	ENSP00000309163:G205A	G	+	2	0	RCE1	66369078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.448000	0.90335	2.452000	0.82932	0.655000	0.94253	GGA	RCE1	-	pfam_CAAX_protease		0.597	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1	G	NM_005133		66612502	1	no_errors	ENST00000309657	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66612502	G	C	66612502	3	2	9	1	0	0	0	0	1	0	0	0	13206	1174	41	1	632	1	RCE1	11	66612502	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	9242886	66612502	68394014	90	918										
GAL	51083	genome.wustl.edu	37	chr11	68455487	68455487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctgatctgcaaacagatgccGttggcaaccacaggtcattc	9	12	2	2	rs541536020	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:68455487G>T	ENST00000265643.3	+	4	400	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	48					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)	p.V48I(1)		lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AACAGATGCCGTTGGCAACCA	0.572																																																	1	Substitution - Missense(1)	lung(1)											85	70	75					11																	68455487		2200	4294	6494	SO:0001583	missense	51083			L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"Endogenous ligands"	4114	protein-coding gene	gene with protein product	"galanin-message-associated peptide", "galanin/GMAP prepropeptide"	137035	"galanin", "galanin prepropeptide"	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.142G>T	11.37:g.68455487G>T	ENSP00000265643:p.Val48Phe		Q14413	Missense_Mutation	SNP	pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin	p.V48F	ENST00000265643.3	37	c.142	CCDS8183.1	11	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213181	0.22289	.	.	ENSG00000069482	ENST00000265643	T	0.54866	0.55	4.03	-4.7	0.03288	Galanin (3);	0.454983	0.22311	N	0.061727	T	0.40862	0.1134	L	0.38175	1.15	0.09310	N	1	D	0.54772	0.968	P	0.48921	0.595	T	0.46373	-0.9196	10	0.72032	D	0.01	-13.9433	7.2548	0.26171	0.2661:0.1582:0.5756:0.0	.	48	P22466	GALA_HUMAN	F	48	ENSP00000265643:V48F	ENSP00000265643:V48F	V	+	1	0	GAL	68212063	0.007000	0.16637	0.022000	0.16811	0.016000	0.09150	-0.378000	0.07446	-0.856000	0.04120	-0.136000	0.14681	GTT	GAL	-	pfam_Galanin,smart_Galanin_pre,prints_Galanin		0.572	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL	HGNC	protein_coding	OTTHUMT00000396843.2	G	NM_001479		68455487	1	no_errors	ENST00000265643	ensembl	human	known	70_37	missense	SNP	0.001	T	T	68455487	G	T	68455487	3	4	9	1	0	0	0	0	1	0	0	0	6215	1145	40	2	152	2	GAL	11	68455487	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1842985	68455487	66551029	91	919										
MYEOV	26579	genome.wustl.edu	37	chr11	69062904	69062904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttgcctctgcctggaacagtCtccctcctggtgtcattgtc	9	14	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr11:69062904C>T	ENST00000308946.3	+	2	533	c.83C>T	c.(82-84)tCt>tTt	p.S28F	MYEOV_ENST00000441339.2_Missense_Mutation_p.S28F|MYEOV_ENST00000535407.1_5'UTR	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	28										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ctggaacagtctccctcctgg	0.592																																																	0													241	170	194					11																	69062904		2200	4294	6494	SO:0001583	missense	26579			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.83C>T	11.37:g.69062904C>T	ENSP00000308330:p.Ser28Phe		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.S28F	ENST00000308946.3	37	c.83	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117946	0.20877	.	.	ENSG00000172927	ENST00000441339;ENST00000308946	T;T	0.24350	1.86;1.86	1.5	-0.503	0.12000	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.19300	N	0.999973	B	0.31383	0.321	B	0.23852	0.049	T	0.21109	-1.0255	9	0.87932	D	0	.	4.0896	0.09963	0.0:0.5736:0.0:0.4264	.	28	Q96EZ4	MYEOV_HUMAN	F	28	ENSP00000412482:S28F;ENSP00000308330:S28F	ENSP00000308330:S28F	S	+	2	0	MYEOV	68819480	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.478000	0.06575	-0.149000	0.11215	0.491000	0.48974	TCT	MYEOV	-	NULL		0.592	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1	C			69062904	1	no_errors	ENST00000308946	ensembl	human	known	70_37	missense	SNP	0.000	T	T	69062904	C	T	69062904	3	4	9	1	0	0	0	0	1	0	0	0	10048	913	32	1	85	1	MYEOV	11	69062904	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	607417	69062904	65943612	92	920										
KLHDC5	57542	genome.wustl.edu	37	chr12	27944650	27944650	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctctctttcaggtctaacttCaaacttgtggctgttaattc	6	10	4	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:27944650C>G	ENST00000381271.2	+	2	1193	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	294					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGTCTAACTTCAAACTTGTGG	0.443																																																	0													191	184	187					12																	27944650		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.882C>G	12.37:g.27944650C>G	ENSP00000370671:p.Phe294Leu		Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.F294L	ENST00000381271.2	37	c.882	CCDS31763.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.920|6.920	0.539487|0.539487	0.13250|0.13250	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000381271|ENST00000543254	T|.	0.67523|.	-0.27|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Kelch-type beta propeller (1);|.	0.087960|.	0.64402|.	D|.	0.000008|.	T|T	0.44008|0.44008	0.1273|0.1273	N|N	0.17764|0.17764	0.52|0.52	0.53005|0.53005	D|D	0.999963|0.999963	B|.	0.21071|.	0.051|.	B|.	0.23716|.	0.048|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.40728|.	T|.	0.16|.	.|.	12.6485|12.6485	0.56748|0.56748	0.0:0.9179:0.0:0.0821|0.0:0.9179:0.0:0.0821	.|.	294|.	Q9P2K6|.	KLDC5_HUMAN|.	L|E	294|116	ENSP00000370671:F294L|.	ENSP00000370671:F294L|.	F|Q	+|+	3|1	2|0	KLHDC5|KLHDC5	27835917|27835917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.507000|1.507000	0.35758|0.35758	2.505000|2.505000	0.84491|0.84491	0.650000|0.650000	0.86243|0.86243	TTC|CAA	KLHDC5	-	pfam_Kelch_1,smart_Kelch_1		0.443	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	C	NM_020782		27944650	1	no_errors	ENST00000381271	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27944650	C	G	27944650	3	3	9	1	0	0	0	0	1	0	0	0	8379	825	29	1	888	1	KLHDC5	12	27944650	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		27944650	105907245	93	921										
TFCP2	7024	genome.wustl.edu	37	chr12	51492613	51492613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccctgcttgtaaatctggctGatctggcaaggggaaatgct	12	9	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:51492613G>C	ENST00000257915.5	-	13	1823	c.1365C>G	c.(1363-1365)atC>atG	p.I455M	TFCP2_ENST00000549867.1_Missense_Mutation_p.I377M|TFCP2_ENST00000548115.1_Missense_Mutation_p.I404M|TFCP2_ENST00000307660.4_Missense_Mutation_p.I404M	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	455					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAATCTGGCTGATCTGGCAAG	0.393																																																	0													121	110	113					12																	51492613		2203	4300	6503	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1365C>G	12.37:g.51492613G>C	ENSP00000257915:p.Ile455Met		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.I455M	ENST00000257915.5	37	c.1365	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539285	0.65085	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.60548	1.7;0.22;1.73;0.18;1.55	5.84	4.95	0.65309	.	0.046947	0.85682	D	0.000000	T	0.75817	0.3901	M	0.85859	2.78	0.45194	D	0.998206	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.98;0.984	T	0.79140	-0.1926	10	0.87932	D	0	-15.9231	9.6371	0.39817	0.0742:0.0:0.7843:0.1414	.	404;377;455;455	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	M	455;404;377;404;357	ENSP00000257915:I455M;ENSP00000304411:I404M;ENSP00000449742:I377M;ENSP00000447991:I404M;ENSP00000449280:I357M	ENSP00000257915:I455M	I	-	3	3	TFCP2	49778880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.971000	0.40530	1.623000	0.50342	0.650000	0.86243	ATC	TFCP2	-	NULL		0.393	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	G	NM_005653		51492613	-1	no_errors	ENST00000257915	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51492613	G	C	51492613	3	2	9	1	0	0	0	0	1	0	0	0	15825	1280	45	1	155	1	TFCP2	12	51492613	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	23547963	51492613	82359282	94	922										
SYT1	6857	genome.wustl.edu	37	chr12	79747354	79747354	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gtaagctgactgttgtcattCtggaggcaaagaacctgaag	12	7	2	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:79747354C>A	ENST00000261205.4	+	9	1540	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	SYT1_ENST00000393240.3_Missense_Mutation_p.L295M|SYT1_ENST00000457153.2_Missense_Mutation_p.L292M|SYT1_ENST00000552744.1_Missense_Mutation_p.L295M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	295	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGTTGTCATTCTGGAGGCAAA	0.428																																																	0													272	250	258					12																	79747354		2203	4300	6503	SO:0001583	missense	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.883C>A	12.37:g.79747354C>A	ENSP00000261205:p.Leu295Met		Q6AI31	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L295M	ENST00000261205.4	37	c.883	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269286	0.80469	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	6.06	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.37800	1.135	0.80722	D	1	P;P	0.34892	0.474;0.474	P;P	0.47827	0.558;0.558	T	0.71185	-0.4667	10	0.46703	T	0.11	.	12.1988	0.54313	0.0:0.8641:0.0:0.1359	.	295;295	Q6AI31;P21579	.;SYT1_HUMAN	M	295;295;292;295	ENSP00000376932:L295M;ENSP00000261205:L295M;ENSP00000391056:L292M;ENSP00000447575:L295M	ENSP00000261205:L295M	L	+	1	2	SYT1	78271485	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.083000	0.71326	1.575000	0.49775	0.650000	0.86243	CTG	SYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin		0.428	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	C	NM_005639		79747354	1	no_errors	ENST00000261205	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79747354	C	A	79747354	3	1	9	1	0	0	0	0	1	0	0	0	15495	912	32	3	905	3	SYT1	12	79747354	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	28254741	79747354	54104541	95	923										
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100452656	100452656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gatgaatatctgcctctgacGaggaaggggaaaatctgaaa	12	6	3	3	rs373719344		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:100452656G>A	ENST00000279907.7	-	14	2611	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S450L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	800										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGCCTCTGACGAGGAAGGGGA	0.398																																																	0								G	LEU/SER	0,4406		0,0,2203	77	75	76		2399	6	0	12		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	UHRF1BP1L	NM_015054.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	800/1465	100452656	1,13005	2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2399C>T	12.37:g.100452656G>A	ENSP00000279907:p.Ser800Leu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.S800L	ENST00000279907.7	37	c.2399	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	G	5.214	0.225002	0.09916	0.0	1.16E-4	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.19105	2.17;2.17	6.02	6.02	0.97574	.	0.467861	0.25506	N	0.030207	T	0.21103	0.0508	M	0.62723	1.935	0.48511	D	0.999668	P	0.49090	0.919	B	0.32928	0.155	T	0.05954	-1.0854	10	0.72032	D	0.01	-5.6712	15.2754	0.73737	0.0:0.0:0.8599:0.1401	.	800	A0JNW5	UH1BL_HUMAN	L	800;450	ENSP00000279907:S800L;ENSP00000444824:S450L	ENSP00000279907:S800L	S	-	2	0	UHRF1BP1L	98976787	0.997000	0.39634	0.015000	0.15790	0.035000	0.12851	5.036000	0.64164	2.857000	0.98124	0.650000	0.86243	TCG	UHRF1BP1L	-	NULL		0.398	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	G	NM_001006947		100452656	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	0.026	A	A	100452656	G	A	100452656	3	1	9	1	0	0	0	0	1	0	0	0	17000	1059	37	1	2027	1	UHRF1BP1L	12	100452656	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	20705302	100452656	33399239	96	924										
NR1H4	9971	genome.wustl.edu	37	chr12	100904813	100904813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgcctgtaacaaagaagcccCgcatgggcgcgtcagcaggg	14	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:100904813C>T	ENST00000551379.1	+	2	395	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	NR1H4_ENST00000392986.3_Missense_Mutation_p.R113C|NR1H4_ENST00000548884.1_Missense_Mutation_p.R113C|NR1H4_ENST00000188403.7_Missense_Mutation_p.R123C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R113C			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	123					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAAGAAGCCCCGCATGGGCGC	0.527																																																	0													87	93	91					12																	100904813		2203	4300	6503	SO:0001583	missense	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.367C>T	12.37:g.100904813C>T	ENSP00000447149:p.Arg123Cys		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.R123C	ENST00000551379.1	37	c.367	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416918	0.62511	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.94417	-3.12;-3.17;-3.42;-3.18;-3.12	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.997;0.978	D	0.97261	0.9904	10	0.54805	T	0.06	.	14.1059	0.65088	0.3855:0.6145:0.0:0.0	.	113;123;123;113;113	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	C	113;113;113;123;123	ENSP00000448506:R113C;ENSP00000376712:R113C;ENSP00000448978:R113C;ENSP00000447149:R123C;ENSP00000188403:R123C	ENSP00000188403:R123C	R	+	1	0	NR1H4	99428944	0.971000	0.33674	0.934000	0.37439	0.779000	0.44077	1.041000	0.30291	1.455000	0.47813	0.650000	0.86243	CGC	NR1H4	-	NULL		0.527	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	C	NM_005123		100904813	1	no_errors	ENST00000551379	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100904813	C	T	100904813	3	4	9	1	0	0	0	0	1	0	0	0	10643	652	23	2	343	2	NR1H4	12	100904813	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	452157	100904813	32947082	97	925										
BTBD11	121551	genome.wustl.edu	37	chr12	108012145	108012145	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gtggatgtcacaattgatatCaggagcataggtcagtctgg	13	6	4	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:108012145C>G	ENST00000280758.5	+	10	2970	c.2442C>G	c.(2440-2442)atC>atG	p.I814M	BTBD11_ENST00000357167.4_Missense_Mutation_p.I351M|BTBD11_ENST00000490090.2_Missense_Mutation_p.I814M|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	814						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAATTGATATCAGGAGCATAG	0.587																																																	0													58	39	45					12																	108012145		2203	4300	6503	SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2442C>G	12.37:g.108012145C>G	ENSP00000280758:p.Ile814Met		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.I814M	ENST00000280758.5	37	c.2442	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852537	0.51270	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.45276	1.09;1.12;0.9	5.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.98;0.998;0.997	D;D;D	0.78314	0.948;0.991;0.932	T	0.55075	-0.8197	10	0.72032	D	0.01	.	6.4716	0.22011	0.2132:0.6165:0.0:0.1704	.	351;814;814	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	M	814;814;351	ENSP00000280758:I814M;ENSP00000447319:I814M;ENSP00000349690:I351M	ENSP00000280758:I814M	I	+	3	3	BTBD11	106536275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.823000	0.27366	1.317000	0.45149	0.563000	0.77884	ATC	BTBD11	-	NULL		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		108012145	1	no_errors	ENST00000280758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108012145	C	G	108012145	3	3	9	1	0	0	0	0	1	0	0	0	1542	816	29	1	2585	1	BTBD11	12	108012145	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	7107332	108012145	25839750	98	926										
UNG	7374	genome.wustl.edu	37	chr12	109539758	109539758	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atcatggacctaatcaagctCacgggctctgctttagtgtt	9	10	4	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:109539758C>T	ENST00000242576.2	+	4	593	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	UNG_ENST00000336865.2_Missense_Mutation_p.H154Y	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TAATCAAGCTCACGGGCTCTG	0.488								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													143	106	119					12																	109539758		2203	4300	6503	SO:0001583	missense	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.487C>T	12.37:g.109539758C>T	ENSP00000242576:p.His163Tyr			Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.H163Y	ENST00000242576.2	37	c.487	CCDS9124.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745078	0.89663	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518	T;T	0.55052	0.54;0.54	5.12	5.12	0.69794	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88987	0.3412	10	0.72032	D	0.01	-23.7365	17.9284	0.88990	0.0:1.0:0.0:0.0	.	154;163	E5KTA6;P13051	.;UNG_HUMAN	Y	163;154;120	ENSP00000242576:H163Y;ENSP00000337398:H154Y	ENSP00000242576:H163Y	H	+	1	0	UNG	108024141	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	7.237000	0.78164	2.557000	0.86248	0.555000	0.69702	CAC	UNG	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.488	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109539758	1	no_errors	ENST00000242576	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109539758	C	T	109539758	3	4	9	1	0	0	0	0	1	0	0	0	17030	826	29	1	606	1	UNG	12	109539758	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	1527613	109539758	24312137	99	927										
NOS1	4842	genome.wustl.edu	37	chr12	117658014	117658014	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gtatatgtggcccccttgctCcttcagggctcggtacacag	11	13	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:117658014C>A	ENST00000338101.4	-	27	4142	c.4138G>T	c.(4138-4140)Gag>Tag	p.E1380*	NOS1_ENST00000317775.6_Nonsense_Mutation_p.E1346*|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCCCTTGCTCCTTCAGGGCT	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													129	140	136					12																	117658014		2202	4299	6501	SO:0001587	stop_gained	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4138G>T	12.37:g.117658014C>A	ENSP00000337459:p.Glu1380*			Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E1346*	ENST00000338101.4	37	c.4036	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	48	14.459174	0.99796	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	.	.	.	4.29	3.4	0.38934	.	0.166092	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-32.5012	12.1056	0.53810	0.0:0.9163:0.0:0.0837	.	.	.	.	X	1241;1346;1380	.	ENSP00000320758:E1346X	E	-	1	0	NOS1	116142397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.539000	0.60657	1.037000	0.40024	0.561000	0.74099	GAG	NOS1	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	C			117658014	-1	no_errors	ENST00000317775	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	117658014	C	A	117658014	4	1	9	1	0	0	0	0	0	1	0	0	10565	864	30	3	280	3	NOS1	12	117658014	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	8118256	117658014	16193881	100	928										
PITPNM2	57605	genome.wustl.edu	37	chr12	123494554	123494554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cgctgggtcttggttgactgGaacagcttggggtcctcttc	14	10	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr12:123494554G>A	ENST00000542749.1	-	4	549	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Silent_p.F162F|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000320201.4_Silent_p.F162F|PITPNM2_ENST00000546049.1_Silent_p.F162F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	162					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGTTGACTGGAACAGCTTGG	0.542																																																	0													128	133	131					12																	123494554		2203	4300	6503	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.486C>T	12.37:g.123494554G>A			Q9P271	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.F162	ENST00000542749.1	37	c.486	CCDS9242.1	12																																																																																			PITPNM2	-	pfam_PI_transfer		0.542	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	G	NM_020845		123494554	-1	no_errors	ENST00000320201	ensembl	human	known	70_37	silent	SNP	1.000	A	A	123494554	G	A	123494554	2	1	9	1	0	0	0	0	0	0	0	1	11975	1165	41	1		1	PITPNM2	12	123494554	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	5836540	123494554	10357341	101	929										
RNF6	6049	genome.wustl.edu	37	chr13	26788558	26788558	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agttctccaaacccagtcatGatctgccttaaaattgaccg	6	12	3	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:26788558G>A	ENST00000381588.4	-	5	2213	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	RNF6_ENST00000399762.2_Silent_p.I131I|RNF6_ENST00000346166.3_Silent_p.I487I|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Silent_p.I487I	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	487					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACCCAGTCATGATCTGCCTTA	0.438																																																	0													81	78	79					13																	26788558		2203	4300	6503	SO:0001819	synonymous_variant	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1461C>T	13.37:g.26788558G>A			B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I487	ENST00000381588.4	37	c.1461	CCDS9316.1	13																																																																																			RNF6	-	NULL		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	G	NM_005977		26788558	-1	no_errors	ENST00000346166	ensembl	human	known	70_37	silent	SNP	0.999	A	A	26788558	G	A	26788558	2	1	9	1	0	0	0	0	0	0	0	1	13528	1280	45	1		1	RNF6	13	26788558	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		26788558	88381320	102	930										
TRIM13	10206	genome.wustl.edu	37	chr13	50587012	50587012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttcattagcaagattccctgGagcttttataagttattttt	6	6	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:50587012G>T	ENST00000378182.3	+	2	1674	c.936G>T	c.(934-936)tgG>tgT	p.W312C	TRIM13_ENST00000457662.2_Missense_Mutation_p.W312C|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.W312C|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.W315C|TRIM13_ENST00000298772.5_Missense_Mutation_p.W315C|KCNRG_ENST00000312942.1_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	312					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATTCCCTGGAGCTTTTATA	0.398																																																	0													200	215	210					13																	50587012		2203	4300	6503	SO:0001583	missense	10206			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.936G>T	13.37:g.50587012G>T	ENSP00000367424:p.Trp312Cys		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.W315C	ENST00000378182.3	37	c.945	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	G	8.550	0.875296	0.17395	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.24350	1.86;1.86;2.4;1.86;2.4	5.75	5.75	0.90469	.	0.666558	0.16135	N	0.228010	T	0.21509	0.0518	N	0.14661	0.345	0.48975	D	0.999739	D;D	0.58970	0.973;0.984	B;P	0.50192	0.43;0.634	T	0.01225	-1.1413	9	.	.	.	-3.6104	10.9537	0.47345	0.1132:0.0:0.8868:0.0	.	312;315	O60858;O60858-3	TRI13_HUMAN;.	C	312;312;315;312;315	ENSP00000412943:W312C;ENSP00000367424:W312C;ENSP00000348299:W315C;ENSP00000399206:W312C;ENSP00000298772:W315C	.	W	+	3	0	TRIM13	49485013	0.128000	0.22383	0.969000	0.41365	0.837000	0.47467	0.395000	0.20850	2.711000	0.92665	0.655000	0.94253	TGG	TRIM13	-	NULL		0.398	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	G	NM_001007278		50587012	1	no_errors	ENST00000298772	ensembl	human	known	70_37	missense	SNP	0.999	T	T	50587012	G	T	50587012	3	4	9	1	0	0	0	0	1	0	0	0	16519	1183	41	3	951	3	TRIM13	13	50587012	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	23798454	50587012	64582866	103	931										
SUGT1	10910	genome.wustl.edu	37	chr13	53239860	53239860	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atgtaaatgtggaattttcaGaaaaagaggtcagtagactg	11	3	2	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:53239860G>C	ENST00000343788.6	+	10	689	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	SUGT1_ENST00000535397.1_Missense_Mutation_p.E115Q|SUGT1_ENST00000310528.8_Missense_Mutation_p.E171Q	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	203	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGAATTTTCAGAAAAAGAGGT	0.279																																																	0													70	74	72					13																	53239860		2201	4293	6494	SO:0001583	missense	10910			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.607G>C	13.37:g.53239860G>C	ENSP00000367208:p.Glu203Gln		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	pfam_SGS,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E203Q	ENST00000343788.6	37	c.607	CCDS45050.1	13	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078488	0.76528	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.15372	2.43;2.43;2.43	5.77	5.77	0.91146	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.094180	0.64402	D	0.000001	T	0.39835	0.1093	M	0.74546	2.27	0.58432	D	0.999999	P;P;P;P	0.43352	0.575;0.67;0.804;0.619	B;P;P;B	0.55222	0.312;0.643;0.771;0.441	T	0.01889	-1.1253	9	.	.	.	-14.4941	18.7541	0.91826	0.0:0.0:1.0:0.0	.	115;115;203;171	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	Q	203;115;171	ENSP00000367208:E203Q;ENSP00000443521:E115Q;ENSP00000308067:E171Q	.	E	+	1	0	SUGT1	52137861	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.929000	0.87595	2.734000	0.93682	0.650000	0.86243	GAA	SUGT1	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain		0.279	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUGT1	HGNC	protein_coding	OTTHUMT00000045104.2	G			53239860	1	no_errors	ENST00000343788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53239860	G	C	53239860	3	2	9	1	0	0	0	0	1	0	0	0	15399	943	33	1	645	1	SUGT1	13	53239860	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	2652848	53239860	61930018	104	932										
NALCN	259232	genome.wustl.edu	37	chr13	102029363	102029363	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggccgtggaatccgcaacatGccccaaggtgacatctgatc	11	13	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:102029363G>T	ENST00000251127.6	-	5	501	c.420C>A	c.(418-420)ggC>ggA	p.G140G	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.G140G|NALCN_ENST00000376196.3_Silent_p.G140G	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	140					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCGCAACATGCCCCAAGGTG	0.393																																																	0													75	73	74					13																	102029363		2203	4300	6503	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.420C>A	13.37:g.102029363G>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.G140	ENST00000251127.6	37	c.420	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom		0.393	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		102029363	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	silent	SNP	0.999	T	T	102029363	G	T	102029363	2	4	9	1	0	0	0	0	0	0	0	1	10171	1306	46	4		4	NALCN	13	102029363	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	48789503	102029363	13140515	105	933										
LIG4	3981	genome.wustl.edu	37	chr13	108861152	108861152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggtcattaataacagcatacGagtccaaataaacggtgtgg	10	7	1	0	rs141441003	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr13:108861152G>A	ENST00000356922.4	-	2	2737	c.2465C>T	c.(2464-2466)tCg>tTg	p.S822L	LIG4_ENST00000405925.1_Missense_Mutation_p.S822L|LIG4_ENST00000442234.1_Missense_Mutation_p.S822L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	822	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACAGCATACGAGTCCAAATA	0.423								Non-homologous end-joining																																									0								G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	90	85	87		2465,2465,2465	4.4	1	13	dbSNP_134	87	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	LIG4	NM_001098268.1,NM_002312.3,NM_206937.1	145,145,145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	822/912,822/912,822/912	108861152	3,13003	2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2465C>T	13.37:g.108861152G>A	ENSP00000349393:p.Ser822Leu		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S822L	ENST00000356922.4	37	c.2465	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	0.342	-0.949670	0.02304	0.0	3.49E-4	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61510	0.1;0.1;0.1	5.59	4.41	0.53225	BRCT (3);	1.311970	0.05045	N	0.477027	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38950	-0.9637	10	0.07990	T	0.79	.	2.9351	0.05811	0.5416:0.2532:0.076:0.1292	.	822	P49917	DNLI4_HUMAN	L	822	ENSP00000385955:S822L;ENSP00000402030:S822L;ENSP00000349393:S822L	ENSP00000349393:S822L	S	-	2	0	LIG4	107659153	0.001000	0.12720	0.974000	0.42286	0.369000	0.29798	0.806000	0.27126	0.970000	0.38263	-0.570000	0.04155	TCG	LIG4	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108861152	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.039	A	A	108861152	G	A	108861152	3	1	9	1	0	0	0	0	1	0	0	0	8803	1059	37	1	274	1	LIG4	13	108861152	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	6831789	108861152	6308726	106	934										
TEP1	7011	genome.wustl.edu	37	chr14	20873630	20873630	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cttgaggataaactcaggctCcaggagggcaagttcacgac	12	10	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:20873630C>G	ENST00000262715.5	-	4	890	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E284Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	284	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACTCAGGCTCCAGGAGGGCA	0.517																																																	0													132	125	127					14																	20873630		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.850G>C	14.37:g.20873630C>G	ENSP00000262715:p.Glu284Gln		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E284Q	ENST00000262715.5	37	c.850	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175113	0.57692	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15952	2.38;2.38	4.84	4.84	0.62591	TROVE (2);	0.060295	0.64402	D	0.000005	T	0.42314	0.1197	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.982;0.99	T	0.26395	-1.0104	10	0.59425	D	0.04	-17.8985	17.2355	0.86997	0.0:1.0:0.0:0.0	.	284;284	G3V5X7;Q99973	.;TEP1_HUMAN	Q	284	ENSP00000262715:E284Q;ENSP00000452574:E284Q	ENSP00000262715:E284Q	E	-	1	0	TEP1	19943470	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.545000	0.60698	2.679000	0.91253	0.655000	0.94253	GAG	TEP1	-	pfam_TROVE,pfscan_TROVE		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20873630	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.999	G	G	20873630	C	G	20873630	3	3	9	1	0	0	0	0	1	0	0	0	15789	864	30	1	7241	1	TEP1	14	20873630	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		20873630	86475910	107	935										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21788328	21788328	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctgtattgcaagagaacactCagatcgaggtaagagcctct	10	9	2	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:21788328C>T	ENST00000400017.2	+	11	1459	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Q460*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Q460*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.Q487*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Q129*|RPGRIP1_ENST00000553500.1_3'UTR	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	487					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAGAACACTCAGATCGAGGT	0.448																																																	0													54	52	52					14																	21788328		1924	4140	6064	SO:0001587	stop_gained	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1459C>T	14.37:g.21788328C>T	ENSP00000382895:p.Gln487*		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q487*	ENST00000400017.2	37	c.1459	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017641	0.93404	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	.	.	.	5.11	3.11	0.35812	.	0.930029	0.09155	N	0.841053	.	.	.	.	.	.	0.20489	N	0.999892	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.9001	9.9345	0.41543	0.3699:0.6301:0.0:0.0	.	.	.	.	X	460;460;487;487;129;154	.	ENSP00000206660:Q487X	Q	+	1	0	RPGRIP1	20858168	0.002000	0.14202	0.033000	0.17914	0.007000	0.05969	0.253000	0.18296	1.470000	0.48102	0.557000	0.71058	CAG	RPGRIP1	-	NULL		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21788328	1	no_errors	ENST00000206660	ensembl	human	known	70_37	nonsense	SNP	0.015	T	T	21788328	C	T	21788328	4	4	9	1	0	0	0	0	0	1	0	0	13579	827	29	1	1501	1	RPGRIP1	14	21788328	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	914698	21788328	85561212	108	936										
C14orf166	51637	genome.wustl.edu	37	chr14	52466482	52466482	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggctaacctgcttcagattCagcgtcatgatgattacctg	9	10	3	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:52466482C>T	ENST00000261700.3	+	5	595	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	C14orf166_ENST00000556760.1_Nonsense_Mutation_p.Q144*	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	144					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					GCTTCAGATTCAGCGTCATGA	0.343																																																	0													138	121	127					14																	52466482		2203	4300	6503	SO:0001587	stop_gained	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"RLL motif containing 1"	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.430C>T	14.37:g.52466482C>T	ENSP00000261700:p.Gln144*			Nonsense_Mutation	SNP	pfam_UPF0568	p.Q144*	ENST00000261700.3	37	c.430	CCDS9705.1	14	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901019	0.92035	.	.	ENSG00000087302	ENST00000261700;ENST00000556760;ENST00000553362	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-18.6068	19.7181	0.96131	0.0:1.0:0.0:0.0	.	.	.	.	X	144;144;81	.	ENSP00000261700:Q144X	Q	+	1	0	C14orf166	51536232	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.410000	0.80065	2.664000	0.90586	0.563000	0.77884	CAG	C14orf166	-	pfam_UPF0568		0.343	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166	HGNC	protein_coding	OTTHUMT00000276887.1	C	NM_016039		52466482	1	no_errors	ENST00000261700	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	52466482	C	T	52466482	4	4	9	1	0	0	0	0	0	1	0	0	1760	827	29	1	448	1	C14orf166	14	52466482	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	30678154	52466482	54883058	109	937										
SAMD4A	23034	genome.wustl.edu	37	chr14	55203957	55203957	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggagtgaacacttagaagatCagaccactgctcgtaacaca	9	10	1	4			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:55203957C>G	ENST00000554335.1	+	4	1594	c.931C>G	c.(931-933)Cag>Gag	p.Q311E	SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Missense_Mutation_p.Q311E|SAMD4A_ENST00000357634.3_Missense_Mutation_p.Q310E			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	311					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTTAGAAGATCAGACCACTGC	0.512																																																	0													147	130	136					14																	55203957		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.931C>G	14.37:g.55203957C>G	ENSP00000452535:p.Gln311Glu		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.Q311E	ENST00000554335.1	37	c.931	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545524	0.27652	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000357634	.	.	.	5.15	5.15	0.70609	.	0.275476	0.35646	N	0.003077	T	0.52484	0.1737	L	0.34521	1.04	0.80722	D	1	B	0.22003	0.063	B	0.16722	0.016	T	0.53472	-0.8434	9	0.87932	D	0	-10.6952	14.4304	0.67246	0.0:0.853:0.147:0.0	.	311	Q9UPU9	SMAG1_HUMAN	E	311;311;310	.	ENSP00000350261:Q310E	Q	+	1	0	SAMD4A	54273707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.433000	0.52834	2.673000	0.90976	0.655000	0.94253	CAG	SAMD4A	-	NULL		0.512	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	C	NM_015589		55203957	1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55203957	C	G	55203957	3	3	9	1	0	0	0	0	1	0	0	0	13851	827	29	1	938	1	SAMD4A	14	55203957	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	2737475	55203957	52145583	110	938										
C14orf39	317761	genome.wustl.edu	37	chr14	60945022	60945022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	catataagtactatacttgtCtttttcaacagttccttgat	4	8	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:60945022C>G	ENST00000321731.3	-	5	478	c.319G>C	c.(319-321)Gac>Cac	p.D107H		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	107					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CTATACTTGTCTTTTTCAACA	0.294																																																	0													69	68	68					14																	60945022		2200	4294	6494	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.319G>C	14.37:g.60945022C>G	ENSP00000324920:p.Asp107His		Q08AQ4	Missense_Mutation	SNP	NULL	p.D107H	ENST00000321731.3	37	c.319	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158844	0.57368	.	.	ENSG00000179008	ENST00000321731;ENST00000555476	T;T	0.55930	1.35;0.49	5.56	5.56	0.83823	.	0.072985	0.64402	D	0.000019	T	0.71651	0.3365	M	0.67953	2.075	0.38387	D	0.945298	D	0.89917	1.0	D	0.91635	0.999	T	0.74581	-0.3618	10	0.62326	D	0.03	.	17.3748	0.87389	0.0:1.0:0.0:0.0	.	107	Q8N1H7	S6OS1_HUMAN	H	107;78	ENSP00000324920:D107H;ENSP00000451665:D78H	ENSP00000324920:D107H	D	-	1	0	C14orf39	60014775	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	4.769000	0.62300	2.771000	0.95319	0.650000	0.86243	GAC	C14orf39	-	NULL		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	C	NM_174978		60945022	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60945022	C	G	60945022	3	3	9	1	0	0	0	0	1	0	0	0	1776	913	32	1	1500	1	C14orf39	14	60945022	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	5741065	60945022	46404518	111	939										
TGFB3	7043	genome.wustl.edu	37	chr14	76447123	76447123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cccctaatggcttccaccctCttcttcttgatgtggccgaa	7	15	3	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:76447123C>G	ENST00000238682.3	-	1	411	c.114G>C	c.(112-114)aaG>aaC	p.K38N	TGFB3_ENST00000556285.1_Missense_Mutation_p.K38N|TGFB3_ENST00000556674.1_5'Flank	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	38					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CTTCCACCCTCTTCTTCTTGA	0.597																																																	0													142	142	142					14																	76447123		2203	4300	6503	SO:0001583	missense	7043				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"Endogenous ligands"	11769	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-3"	190230	"arrhythmogenic right ventricular dysplasia 1"	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.114G>C	14.37:g.76447123C>G	ENSP00000238682:p.Lys38Asn		Q8WV88	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.K38N	ENST00000238682.3	37	c.114	CCDS9846.1	14	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297787	0.60086	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.66280	-0.2;-0.2	4.65	4.65	0.58169	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.82193	2.58	0.50313	D	0.99986	D	0.76494	0.999	D	0.87578	0.998	T	0.80915	-0.1169	10	0.72032	D	0.01	-23.9375	10.3778	0.44092	0.0:0.9078:0.0:0.0922	.	38	P10600	TGFB3_HUMAN	N	38	ENSP00000238682:K38N;ENSP00000451110:K38N	ENSP00000238682:K38N	K	-	3	2	TGFB3	75516876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	2.302000	0.77476	0.561000	0.74099	AAG	TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta		0.597	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	C	NM_003239		76447123	-1	no_errors	ENST00000238682	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76447123	C	G	76447123	3	3	9	1	0	0	0	0	1	0	0	0	15849	912	32	1	1152	1	TGFB3	14	76447123	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	15502101	76447123	30902417	112	940										
CALM1	801	genome.wustl.edu	37	chr14	90870837	90870837	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gagaagcagatattgatggaGacggacaagtcaactatgaa	12	5	1	5			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:90870837G>A	ENST00000356978.4	+	5	648	c.400G>A	c.(400-402)Gac>Aac	p.D134N	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.D98N|CALM1_ENST00000447653.3_Missense_Mutation_p.D135N|CALM1_ENST00000553542.1_Missense_Mutation_p.D98N	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	134	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TATTGATGGAGACGGACAAGT	0.388																																																	0													136	129	131					14																	90870837		2203	4300	6503	SO:0001583	missense	801				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.400G>A	14.37:g.90870837G>A	ENSP00000349467:p.Asp134Asn		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.D134N	ENST00000356978.4	37	c.400	CCDS9892.1	14	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816247	0.50527	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.45	5.45	0.79879	EF-hand-like domain (1);	0.052039	0.64402	D	0.000001	D	0.85017	0.5601	.	.	.	0.80722	D	1	P;B	0.39748	0.686;0.376	B;P	0.50314	0.267;0.637	D	0.86154	0.1589	9	0.87932	D	0	.	19.2956	0.94120	0.0:0.0:1.0:0.0	.	135;134	E7ETZ0;P62158	.;CALM_HUMAN	N	98;134;135;98;98	ENSP00000451062:D98N;ENSP00000349467:D134N;ENSP00000403491:D135N;ENSP00000450829:D98N;ENSP00000442853:D98N	ENSP00000349467:D134N	D	+	1	0	CALM1	89940590	1.000000	0.71417	0.911000	0.35937	0.993000	0.82548	9.808000	0.99193	2.545000	0.85829	0.650000	0.86243	GAC	CALM1	-	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.388	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	G			90870837	1	no_errors	ENST00000356978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90870837	G	A	90870837	3	1	9	1	0	0	0	0	1	0	0	0	2589	942	33	1	418	1	CALM1	14	90870837	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	14423714	90870837	16478703	113	941										
YY1	7528	genome.wustl.edu	37	chr14	100728666	100728666	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	aaaaaagatattgaccatgaGacagtggttgaagaacagat	10	4	0	6			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr14:100728666G>C	ENST00000262238.4	+	2	965	c.705G>C	c.(703-705)gaG>gaC	p.E235D	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	235					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TTGACCATGAGACAGTGGTTG	0.353																																																	0													72	73	73					14																	100728666		2203	4300	6503	SO:0001583	missense	7528			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.705G>C	14.37:g.100728666G>C	ENSP00000262238:p.Glu235Asp		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.E235D	ENST00000262238.4	37	c.705	CCDS9957.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.24|13.24|13.24	2.177651|2.177651|2.177651	0.38413|0.38413|0.38413	.|.|.	.|.|.	ENSG00000100811|ENSG00000100811|ENSG00000100811	ENST00000553625|ENST00000262238|ENST00000554804	.|T|.	.|0.11169|.	.|2.8|.	5.7|5.7|5.7	3.48|3.48|3.48	0.39840|0.39840|0.39840	.|.|.	.|0.065124|.	.|0.64402|.	.|U|.	.|0.000011|.	T|T|T	0.36663|0.36663|0.36663	0.0975|0.0975|0.0975	N|N|N	0.16862|0.16862|0.16862	0.45|0.45|0.45	0.43574|0.43574|0.43574	D|D|D	0.995902|0.995902|0.995902	.|B|.	.|0.09022|.	.|0.002|.	.|B|.	.|0.11329|.	.|0.006|.	T|T|T	0.10428|0.10428|0.10428	-1.0630|-1.0630|-1.0630	5|10|5	.|0.30078|.	.|T|.	.|0.28|.	.|.|.	6.6685|6.6685|6.6685	0.23056|0.23056|0.23056	0.3601:0.0:0.6399:0.0|0.3601:0.0:0.6399:0.0|0.3601:0.0:0.6399:0.0	.|.|.	.|235|.	.|P25490|.	.|TYY1_HUMAN|.	H|D|T	66|235|64	.|ENSP00000262238:E235D|.	.|ENSP00000262238:E235D|.	D|E|R	+|+|+	1|3|2	0|2|0	YY1|YY1|YY1	99798419|99798419|99798419	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.915000|0.915000|0.915000	0.54546|0.54546|0.54546	1.649000|1.649000|1.649000	0.37281|0.37281|0.37281	1.535000|1.535000|1.535000	0.49220|0.49220|0.49220	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAC|GAG|AGA	YY1	-	pirsf_TF_Yin_yang		0.353	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	G	NM_003403		100728666	1	no_errors	ENST00000262238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100728666	G	C	100728666	3	2	9	1	0	0	0	0	1	0	0	0	17538	933	33	1	711	1	YY1	14	100728666	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	9857829	100728666	6620874	114	942										
IGDCC3	9543	genome.wustl.edu	37	chr15	65621255	65621255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gccagacactggctactgttCcgagtgagctggctgggtaa	14	10	0	2	rs372840863		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr15:65621255C>T	ENST00000327987.4	-	14	2688	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	813					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCTACTGTTCCGAGTGAGCT	0.632																																																	0													26	32	30					15																	65621255		2153	4238	6391	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2437G>A	15.37:g.65621255C>T	ENSP00000332773:p.Glu813Lys		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E813K	ENST00000327987.4	37	c.2437	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314563	0.40996	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66638	-0.22	5.26	3.38	0.38709	.	.	.	.	.	T	0.42653	0.1212	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	0.26408	T	0.33	3.6233	2.2141	0.03955	0.1577:0.5178:0.1529:0.1717	.	813	Q8IVU1	IGDC3_HUMAN	K	813;636	ENSP00000332773:E813K	ENSP00000332773:E813K	E	-	1	0	IGDCC3	63408308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.112000	0.15479	0.596000	0.29794	0.650000	0.86243	GAA	IGDCC3	-	NULL		0.632	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	C	NM_004884		65621255	-1	no_errors	ENST00000327987	ensembl	human	known	70_37	missense	SNP	0.000	T	T	65621255	C	T	65621255	3	4	9	1	0	0	0	0	1	0	0	0	7588	864	30	1	11	1	IGDCC3	15	65621255	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		65621255	36910137	115	943										
EDC3	80153	genome.wustl.edu	37	chr15	74963937	74963937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgtcctcttagggatattctGaggggcactgctggaagagg	15	7	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr15:74963937G>C	ENST00000315127.4	-	3	524	c.343C>G	c.(343-345)Cag>Gag	p.Q115E	EDC3_ENST00000426797.3_Missense_Mutation_p.Q115E|EDC3_ENST00000568176.1_Missense_Mutation_p.Q115E	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	115					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGATATTCTGAGGGGCACTG	0.532																																																	0													116	104	108					15																	74963937		2197	4296	6493	SO:0001583	missense	80153			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.343C>G	15.37:g.74963937G>C	ENSP00000320503:p.Gln115Glu		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.Q115E	ENST00000315127.4	37	c.343	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774084	0.31411	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.29	5.29	0.74685	.	0.144050	0.48286	D	0.000191	T	0.43678	0.1258	L	0.27053	0.805	0.37687	D	0.923694	B	0.29716	0.255	B	0.26614	0.071	T	0.43130	-0.9410	9	0.10636	T	0.68	-24.0484	17.9228	0.88972	0.0:0.0:1.0:0.0	.	115	Q96F86	EDC3_HUMAN	E	115	.	ENSP00000320503:Q115E	Q	-	1	0	EDC3	72750990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.516000	0.60496	2.484000	0.83849	0.655000	0.94253	CAG	EDC3	-	NULL		0.532	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	G	NM_025083		74963937	-1	no_errors	ENST00000315127	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74963937	G	C	74963937	3	2	9	1	0	0	0	0	1	0	0	0	4917	1299	45	1	1203	1	EDC3	15	74963937	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	9342682	74963937	27567455	116	944										
PKD1	5310	genome.wustl.edu	37	chr16	2158464	2158464	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tcagtggcgtgtccccaaatGacacgacaaacacaaagcag	9	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:2158464G>A	ENST00000262304.4	-	15	6912	c.6704C>T	c.(6703-6705)tCa>tTa	p.S2235L	PKD1_ENST00000423118.1_Missense_Mutation_p.S2235L|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2235	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTCCCCAAATGACACGACAAA	0.672																																																	0													43	41	42					16																	2158464		2190	4291	6481	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6704C>T	16.37:g.2158464G>A	ENSP00000262304:p.Ser2235Leu		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S2235L	ENST00000262304.4	37	c.6704	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	28.2	4.896833	0.91962	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.72615	-0.67;-0.67	5.35	5.35	0.76521	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.067299	0.64402	D	0.000008	D	0.84524	0.5491	M	0.76328	2.33	0.46609	D	0.999121	D;D	0.76494	0.995;0.999	D;D	0.77557	0.94;0.99	D	0.86112	0.1563	10	0.87932	D	0	.	19.1617	0.93535	0.0:0.0:1.0:0.0	.	2235;2235	P98161-3;P98161	.;PKD1_HUMAN	L	2235;2235;1586;514	ENSP00000262304:S2235L;ENSP00000399501:S2235L	ENSP00000262304:S2235L	S	-	2	0	PKD1	2098465	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	9.373000	0.97168	2.539000	0.85634	0.544000	0.68410	TCA	PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2158464	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2158464	G	A	2158464	3	1	9	1	0	0	0	0	1	0	0	0	11987	1294	45	1	6335	1	PKD1	16	2158464	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		2158464	88196289	117	945										
SEPT12	124404	genome.wustl.edu	37	chr16	4836063	4836063	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gacttccacactttggacttGaacagcgtgttcaccatcgt	8	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:4836063G>C	ENST00000268231.8	-	3	473	c.210C>G	c.(208-210)ttC>ttG	p.F70L	SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.F70L|SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589327.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	70	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTTGGACTTGAACAGCGTGT	0.597																																																	0													65	54	58					16																	4836063		2197	4300	6497	SO:0001583	missense	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.210C>G	16.37:g.4836063G>C	ENSP00000268231:p.Phe70Leu		Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.F70L	ENST00000268231.8	37	c.210	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153676	0.78114	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.77877	-1.13;0.54	4.64	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.43757	1.38	0.47441	D	0.999425	D;D	0.89917	1.0;0.999	D;D	0.79784	0.992;0.993	D	0.83394	0.0019	10	0.87932	D	0	.	11.6244	0.51136	0.0875:0.0:0.9125:0.0	.	70;70	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	L	70	ENSP00000379922:F70L;ENSP00000268231:F70L	ENSP00000268231:F70L	F	-	3	2	SEPT12	4776064	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.307000	0.59123	1.168000	0.42723	0.551000	0.68910	TTC	SEPT12	-	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin		0.597	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	G	NM_144605		4836063	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4836063	G	C	4836063	3	2	9	1	0	0	0	0	1	0	0	0	14092	1281	45	1	898	1	SEPT12	16	4836063	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	2677599	4836063	85518690	118	946										
NOMO2	283820	genome.wustl.edu	37	chr16	18542930	18542930	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tctgcctcaggaaccatcacCtgcggaaacgtggatggaac	11	12	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:18542930C>T	ENST00000381474.3	-	13	1461		c.e13-1		NOMO2_ENST00000543392.1_Splice_Site|NOMO2_ENST00000330537.6_Splice_Site	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2							endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GAACCATCACCTGCGGAAACG	0.542																																																	0													92	69	77					16																	18542930		2193	4277	6470	SO:0001630	splice_region_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1396-1G>A	16.37:g.18542930C>T			Q4G177	Splice_Site	SNP	-	e13-1	ENST00000381474.3	37	c.1396-1	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	c	10.77	1.443332	0.25987	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7009	0.62608	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOMO2	18450431	1.000000	0.71417	0.958000	0.39756	0.208000	0.24298	6.815000	0.75242	1.724000	0.51502	0.455000	0.32223	.	NOMO2	-	-		0.542	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	C	NM_001004060	Intron	18542930	-1	no_errors	ENST00000381474	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	18542930	C	T	18542930	5	4	9	1	0	0	0	0	0	0	1	0	10556	695	24	4	2492	4	NOMO2	16	18542930	Splice_Site	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	13706867	18542930	71811823	119	947										
LOC81691	81691	genome.wustl.edu	37	chr16	20857632	20857632	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agcttgtgcccgggcactctCtgcctcatcctgctgccagg	11	16	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:20857632C>G	ENST00000261377.6	+	19	2423	c.2214C>G	c.(2212-2214)ctC>ctG	p.L738L	AC004381.6_ENST00000564274.1_Silent_p.L738L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Silent_p.L707L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CGGGCACTCTCTGCCTCATCC	0.532																																																	0													106	104	104					16																	20857632		2201	4300	6501	SO:0001819	synonymous_variant	81691																														ENST00000261377.6:c.2214C>G	16.37:g.20857632C>G				Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom	p.L738	ENST00000261377.6	37	c.2214	CCDS10591.1	16																																																																																			AC004381.6	-	NULL		0.532	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC81691	Clone_based_vega_gene	protein_coding	OTTHUMT00000254418.2	C			20857632	1	no_errors	ENST00000261377	ensembl	human	known	70_37	silent	SNP	0.997	G	G	20857632	C	G	20857632	2	3	9	1	0	0	0	0	0	0	0	1	8913	900	32	1		1	LOC81691	16	20857632	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	2314702	20857632	69497121	120	948										
SLC5A11	115584	genome.wustl.edu	37	chr16	24902257	24902257	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttggccctggctagcaaccgGagtgagaacagcagctgcgg	15	11	0	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:24902257G>C	ENST00000347898.3	+	9	1354	c.732G>C	c.(730-732)cgG>cgC	p.R244R	SLC5A11_ENST00000568579.1_Silent_p.R174R|SLC5A11_ENST00000424767.2_Silent_p.R209R|SLC5A11_ENST00000545376.1_Silent_p.R174R|SLC5A11_ENST00000539472.1_Silent_p.R180R|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000567758.1_Silent_p.R209R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000565769.1_Silent_p.R180R	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTAGCAACCGGAGTGAGAACA	0.557																																																	0													126	130	128					16																	24902257		2197	4300	6497	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.732G>C	16.37:g.24902257G>C				Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R244	ENST00000347898.3	37	c.732	CCDS10625.1	16																																																																																			SLC5A11	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.557	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	G	NM_052944		24902257	1	no_errors	ENST00000347898	ensembl	human	known	70_37	silent	SNP	0.864	C	C	24902257	G	C	24902257	2	2	9	1	0	0	0	0	0	0	0	1	14693	1161	41	1		1	SLC5A11	16	24902257	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	4044625	24902257	65452496	121	949										
PHKG2	5261	genome.wustl.edu	37	chr16	30764777	30764777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgccaacaacattgtgcatcGagatctgaagcccgagaata	9	10	1	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:30764777G>A	ENST00000563588.1	+	6	694	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000328273.7_Missense_Mutation_p.R152Q|PHKG2_ENST00000424889.3_Missense_Mutation_p.R152Q	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ATTGTGCATCGAGATCTGAAG	0.542																																																	0													72	70	70					16																	30764777		2197	4300	6497	SO:0001583	missense	5261			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.455G>A	16.37:g.30764777G>A	ENSP00000455607:p.Arg152Gln		A8K0C7|B4DEB7|E9PEU3|P11800	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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R152Q	ENST00000563588.1	37	c.455	CCDS10690.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.794607	0.96952	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.60920	0.15;0.15	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38381	N	0.001704	D	0.84206	0.5421	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.89008	0.3426	10	0.87932	D	0	-3.6489	18.4328	0.90632	0.0:0.0:1.0:0.0	.	152;152	P15735;P15735-2	PHKG2_HUMAN;.	Q	152	ENSP00000329968:R152Q;ENSP00000388571:R152Q	ENSP00000329968:R152Q	R	+	2	0	PHKG2	30672278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.633000	0.89246	0.655000	0.94253	CGA	PHKG2	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.542	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	G	NM_000294		30764777	1	no_errors	ENST00000563588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30764777	G	A	30764777	3	1	9	1	0	0	0	0	1	0	0	0	11871	1058	37	1	473	1	PHKG2	16	30764777	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	5862520	30764777	59589976	122	950										
MYST1	84148	genome.wustl.edu	37	chr16	31141434	31141434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tcgtcttttacatcctgactGaggtggaccggcagggggcc	14	11	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:31141434G>C	ENST00000543774.2	+	8	1203	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	KAT8_ENST00000448516.2_Missense_Mutation_p.E290Q|RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000219797.4_Missense_Mutation_p.E290Q			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	290	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CATCCTGACTGAGGTGGACCG	0.562																																																	0													186	194	191					16																	31141434		2197	4300	6497	SO:0001583	missense	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.868G>C	16.37:g.31141434G>C	ENSP00000456933:p.Glu290Gln		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.E290Q	ENST00000543774.2	37	c.868	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267809	0.80469	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	5.47	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.981;0.989;0.981	T	0.80804	-0.1219	9	0.62326	D	0.03	-32.9328	14.941	0.70994	0.0:0.1443:0.8557:0.0	.	290;290;290	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	Q	290	.	ENSP00000219797:E290Q	E	+	1	0	KAT8	31048935	1.000000	0.71417	0.652000	0.29579	0.871000	0.50021	7.775000	0.85489	1.269000	0.44280	0.561000	0.74099	GAG	KAT8	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.562	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	G	NM_032188		31141434	1	no_errors	ENST00000448516	ensembl	human	known	70_37	missense	SNP	0.999	C	C	31141434	G	C	31141434	3	2	9	1	0	0	0	0	1	0	0	0	10125	1291	45	1	894	1	MYST1	16	31141434	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	376657	31141434	59213319	123	951										
MYLK3	91807	genome.wustl.edu	37	chr16	46746648	46746648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttctggggccaggaactcagGagtgccgaagttcaccttca	12	11	4	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:46746648G>A	ENST00000394809.4	-	10	2141	c.2026C>T	c.(2026-2028)Cct>Tct	p.P676S	MYLK3_ENST00000562104.1_5'Flank|MYLK3_ENST00000536476.1_Missense_Mutation_p.P335S	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGGAACTCAGGAGTGCCGAAG	0.542																																																	0													91	76	81					16																	46746648		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2026C>T	16.37:g.46746648G>A	ENSP00000378288:p.Pro676Ser		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	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.P676S	ENST00000394809.4	37	c.2026	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372472	0.82573	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.47869	0.83;0.83	5.85	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35436	N	0.003211	T	0.72827	0.3509	M	0.85710	2.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.79107	-0.1939	10	0.87932	D	0	.	17.0555	0.86532	0.0:0.127:0.873:0.0	.	676	Q32MK0	MYLK3_HUMAN	S	676;335	ENSP00000378288:P676S;ENSP00000439297:P335S	ENSP00000378288:P676S	P	-	1	0	MYLK3	45304149	1.000000	0.71417	0.669000	0.29828	0.970000	0.65996	7.935000	0.87658	1.459000	0.47892	0.655000	0.94253	CCT	MYLK3	-	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		0.542	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	G	NM_182493		46746648	-1	no_errors	ENST00000394809	ensembl	human	known	70_37	missense	SNP	0.996	A	A	46746648	G	A	46746648	3	1	9	1	0	0	0	0	1	0	0	0	10081	1174	41	1	449	1	MYLK3	16	46746648	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	15605214	46746648	43608105	124	952										
NKD1	85407	genome.wustl.edu	37	chr16	50667159	50667159	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cccgcacctccaatcccactCgatctcgctcccatgagccg	6	21	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:50667159C>T	ENST00000268459.3	+	10	1104	c.880C>T	c.(880-882)Cga>Tga	p.R294*		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	294					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R294*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAATCCCACTCGATCTCGCTC	0.587																																																	1	Substitution - Nonsense(1)	large_intestine(1)											103	101	102					16																	50667159		2198	4300	6498	SO:0001587	stop_gained	85407			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.880C>T	16.37:g.50667159C>T	ENSP00000268459:p.Arg294*		B2RC39|Q8WZ08	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.R294*	ENST00000268459.3	37	c.880	CCDS10743.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976278	0.74360	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.54	1.13	0.20643	.	0.109667	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.986	8.5192	0.33264	0.362:0.5178:0.1202:0.0	.	.	.	.	X	294	.	ENSP00000268459:R294X	R	+	1	2	NKD1	49224660	0.937000	0.31787	0.077000	0.20336	0.528000	0.34623	1.610000	0.36869	0.507000	0.28148	-0.302000	0.09304	CGA	NKD1	-	NULL		0.587	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1	C			50667159	1	no_errors	ENST00000268459	ensembl	human	known	70_37	nonsense	SNP	0.543	T	T	50667159	C	T	50667159	4	4	9	1	0	0	0	0	0	1	0	0	10465	876	31	1	918	1	NKD1	16	50667159	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	3920511	50667159	39687594	125	953										
GOT2	2806	genome.wustl.edu	37	chr16	58752559	58752559	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tccccaggttggtttgggcaGaaagacatctcggctgaact	12	10	1	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr16:58752559G>C	ENST00000245206.5	-	5	597	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	GOT2_ENST00000434819.2_Missense_Mutation_p.L114V|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	157					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGTTTGGGCAGAAAGACATCT	0.428																																																	0													89	83	85					16																	58752559		2198	4300	6498	SO:0001583	missense	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.469C>G	16.37:g.58752559G>C	ENSP00000245206:p.Leu157Val		B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.L157V	ENST00000245206.5	37	c.469	CCDS10801.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996502|2.996502	0.54147|0.54147	.|.	.|.	ENSG00000125166|ENSG00000125166	ENST00000425685|ENST00000245206;ENST00000434819	.|D;D	.|0.89415	.|-2.51;-2.51	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83533|0.83533	0.5275|0.5275	N|N	0.21508|0.21508	0.67|0.67	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16802	.|0.003;0.019	.|B;B	.|0.26864	.|0.074;0.038	T|T	0.77175|0.77175	-0.2684|-0.2684	5|9	.|.	.|.	.|.	-0.7201|-0.7201	18.8967|18.8967	0.92426|0.92426	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|114;157	.|E7ERW2;P00505	.|.;AATM_HUMAN	L|V	117|157;114	.|ENSP00000245206:L157V;ENSP00000394100:L114V	.|.	F|L	-|-	3|1	2|2	GOT2|GOT2	57310060|57310060	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.944000|0.944000	0.59088|0.59088	7.807000|7.807000	0.86032|0.86032	2.723000|2.723000	0.93209|0.93209	0.561000|0.561000	0.74099|0.74099	TTC|CTG	GOT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.428	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT2	HGNC	protein_coding	OTTHUMT00000258289.3	G			58752559	-1	no_errors	ENST00000245206	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58752559	G	C	58752559	3	2	9	1	0	0	0	0	1	0	0	0	6600	933	33	1	847	1	GOT2	16	58752559	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	8085400	58752559	31602194	126	954										
VPS53	55275	genome.wustl.edu	37	chr17	465783	465783	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gattttccaggcgtattctcGgaggtacttctggaaaatgg	12	7	2	0	rs200594402		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:465783G>A	ENST00000571805.1	-	14	1652	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	VPS53_ENST00000291074.5_Nonsense_Mutation_p.R477*|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Nonsense_Mutation_p.R506*|VPS53_ENST00000401468.3_Nonsense_Mutation_p.R229*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.R308*			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	506					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.R477*(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCGTATTCTCGGAGGTACTTC	0.488																																																	1	Substitution - Nonsense(1)	large_intestine(1)											83	78	80					17																	465783		2203	4300	6503	SO:0001587	stop_gained	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1516C>T	17.37:g.465783G>A	ENSP00000459312:p.Arg506*		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Nonsense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.R506*	ENST00000571805.1	37	c.1516		17	.	.	.	.	.	.	.	.	.	.	G	47	13.270170	0.99731	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	.	.	.	6.07	6.07	0.98685	.	0.051316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.916	19.6321	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	X	506;308;477;229;458	.	ENSP00000291074:R477X	R	-	1	2	VPS53	412533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.884000	0.98904	0.655000	0.94253	CGA	VPS53	-	NULL		0.488	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	G	NM_018289		465783	-1	no_errors	ENST00000437048	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	465783	G	A	465783	4	1	9	1	0	0	0	0	0	1	0	0	17246	1124	39	2	1033	2	VPS53	17	465783	Nonsense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		465783	80729427	127	955										
ALOX15B	247	genome.wustl.edu	37	chr17	7948588	7948588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttcttggtggatcacggcatCctctctggcatccagaccaa	9	13	3	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:7948588C>G	ENST00000380183.4	+	7	1021	c.882C>G	c.(880-882)atC>atG	p.I294M	ALOX15B_ENST00000573359.1_Missense_Mutation_p.I294M|ALOX15B_ENST00000572022.1_Missense_Mutation_p.I294M|ALOX15B_ENST00000380173.2_Missense_Mutation_p.I294M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	294	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						ATCACGGCATCCTCTCTGGCA	0.567																																																	0													89	91	91					17																	7948588		2203	4300	6503	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.882C>G	17.37:g.7948588C>G	ENSP00000369530:p.Ile294Met		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.I294M	ENST00000380183.4	37	c.882	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514000	0.44763	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.76448	-1.02;-1.02	4.09	-1.25	0.09405	Lipoxygenase, C-terminal (3);	0.458055	0.22507	N	0.059150	T	0.74397	0.3711	M	0.70275	2.135	0.23855	N	0.99665	B;B;B;P	0.37663	0.417;0.364;0.364;0.604	B;B;B;P	0.45712	0.411;0.287;0.287;0.491	T	0.66356	-0.5944	10	0.59425	D	0.04	-23.7066	2.5391	0.04722	0.1444:0.5171:0.1417:0.1968	.	294;294;294;294	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	M	294	ENSP00000369520:I294M;ENSP00000369530:I294M	ENSP00000344337:I294M	I	+	3	3	ALOX15B	7889313	0.000000	0.05858	0.144000	0.22314	0.439000	0.31926	-0.587000	0.05780	-0.035000	0.13691	0.467000	0.42956	ATC	ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C		0.567	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	C			7948588	1	no_errors	ENST00000380183	ensembl	human	known	70_37	missense	SNP	0.210	G	G	7948588	C	G	7948588	3	3	9	1	0	0	0	0	1	0	0	0	539	845	30	1	908	1	ALOX15B	17	7948588	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	7482805	7948588	73246622	128	956										
MYH10	4628	genome.wustl.edu	37	chr17	8395749	8395749	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cagtgacagggctttggtttCtttctctctggcctcggctt	11	11	3	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:8395749C>G	ENST00000269243.4	-	32	4582	c.4444G>C	c.(4444-4446)Gaa>Caa	p.E1482Q	MYH10_ENST00000396239.1_Missense_Mutation_p.E1503Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1513Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1498Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1482					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTTTGGTTTCTTTCTCTCTG	0.602																																																	0													68	76	73					17																	8395749		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4444G>C	17.37:g.8395749C>G	ENSP00000269243:p.Glu1482Gln		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1503Q	ENST00000269243.4	37	c.4507	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790848	0.90367	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;T;T	0.86297	-2.1;-2.1;-1.29;-1.29	5.5	4.53	0.55603	Myosin tail (1);	0.099399	0.64402	D	0.000002	D	0.93536	0.7937	M	0.85197	2.74	0.58432	D	0.999999	D;P;D	0.59357	0.985;0.915;0.985	D;P;D	0.69824	0.966;0.905;0.966	D	0.94474	0.7687	10	0.72032	D	0.01	.	14.6396	0.68714	0.0:0.9305:0.0:0.0695	.	1491;1513;1482	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1482;1513;1503;1498	ENSP00000269243:E1482Q;ENSP00000353590:E1513Q;ENSP00000379539:E1503Q;ENSP00000369315:E1498Q	ENSP00000269243:E1482Q	E	-	1	0	MYH10	8336474	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.609000	0.82925	1.558000	0.49541	0.655000	0.94253	GAA	MYH10	-	pfam_Myosin_tail		0.602	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8395749	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8395749	C	G	8395749	3	3	9	1	0	0	0	0	1	0	0	0	10053	922	32	1	1526	1	MYH10	17	8395749	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	447161	8395749	72799461	129	957										
KSR1	8844	genome.wustl.edu	37	chr17	25932695	25932695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gcatggcgaggtggccattcGcctgctggagatggacggcc	17	11	0	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:25932695G>A	ENST00000319524.6	+	15	1916	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	KSR1_ENST00000398988.3_Missense_Mutation_p.R502H|KSR1_ENST00000268763.6_Missense_Mutation_p.R502H|KSR1_ENST00000509603.2_Missense_Mutation_p.R617H			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTGGCCATTCGCCTGCTGGAG	0.652																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													15	18	17					17																	25932695		2008	4158	6166	SO:0001583	missense	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1916G>A	17.37:g.25932695G>A	ENSP00000323178:p.Arg639His		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R639H	ENST00000319524.6	37	c.1916		17	.	.	.	.	.	.	.	.	.	.	G	36	5.712142	0.96830	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.46451	0.87;0.87;0.87	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.97110	1.0;0.449	T	0.64457	-0.6403	10	0.87932	D	0	.	18.7549	0.91828	0.0:0.0:1.0:0.0	.	637;617	Q8IVT5;F5H0K8	KSR1_HUMAN;.	H	639;617;502;502	ENSP00000323178:R639H;ENSP00000438795:R617H;ENSP00000268763:R502H	ENSP00000268763:R502H	R	+	2	0	KSR1	22956822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.715000	0.98748	2.681000	0.91329	0.655000	0.94253	CGC	KSR1	-	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,pfscan_Prot_kinase_cat_dom		0.652	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		G	NM_014238		25932695	1	no_errors	ENST00000319524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25932695	G	A	25932695	3	1	9	1	0	0	0	0	1	0	0	0	8601	1087	38	2	1551	2	KSR1	17	25932695	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	17536946	25932695	55262515	130	958										
TNS4	84951	genome.wustl.edu	37	chr17	38645133	38645133	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccaccactgcgaagggagccGaagggcggggtgacagaggg	19	10	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:38645133G>A	ENST00000254051.6	-	3	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	176	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAAGGGAGCCGAAGGGCGGGG	0.622																																																	0													51	63	59					17																	38645133		2200	4299	6499	SO:0001819	synonymous_variant	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.528C>T	17.37:g.38645133G>A			A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.F176	ENST00000254051.6	37	c.528	CCDS11368.1	17																																																																																			TNS4	-	NULL		0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	G	NM_032865		38645133	-1	no_errors	ENST00000254051	ensembl	human	known	70_37	silent	SNP	0.238	A	A	38645133	G	A	38645133	2	1	9	1	0	0	0	0	0	0	0	1	16375	1049	37	1		1	TNS4	17	38645133	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	12712438	38645133	42550077	131	959										
KRTAP9-8	83901	genome.wustl.edu	37	chr17	39394399	39394399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acctgcagcagcacaccctgCtgccagccctcctgctgtgt	9	18	0	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:39394399C>G	ENST00000254072.6	+	1	103	c.96C>G	c.(94-96)tgC>tgG	p.C32W		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	32	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCACACCCTGCTGCCAGCCCT	0.617																																																	0													72	85	81					17																	39394399		2098	4296	6394	SO:0001583	missense	83901			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"Keratin associated proteins"	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.96C>G	17.37:g.39394399C>G	ENSP00000254072:p.Cys32Trp			Missense_Mutation	SNP	NULL	p.C32W	ENST00000254072.6	37	c.96	CCDS42334.1	17	.	.	.	.	.	.	.	.	.	.	.	15.58	2.874255	0.51695	.	.	ENSG00000187272	ENST00000254072	T	0.02552	4.25	2.95	0.841	0.18918	.	.	.	.	.	T	0.12178	0.0296	M	0.90542	3.125	0.44579	D	0.997544	D	0.64830	0.994	P	0.58520	0.84	T	0.00986	-1.1490	9	0.87932	D	0	.	7.0157	0.24887	0.0:0.7449:0.0:0.2551	.	32	Q9BYQ0	KRA98_HUMAN	W	32	ENSP00000254072:C32W	ENSP00000254072:C32W	C	+	3	2	KRTAP9-8	36647925	1.000000	0.71417	0.006000	0.13384	0.965000	0.64279	1.519000	0.35888	0.077000	0.16863	0.462000	0.41574	TGC	KRTAP9-8	-	NULL		0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-8	HGNC	protein_coding	OTTHUMT00000257712.1	C			39394399	1	no_errors	ENST00000254072	ensembl	human	known	70_37	missense	SNP	0.772	G	G	39394399	C	G	39394399	3	3	9	1	0	0	0	0	1	0	0	0	8596	805	28	4	98	4	KRTAP9-8	17	39394399	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	749266	39394399	41800811	132	960										
WNK4	65266	genome.wustl.edu	37	chr17	40947491	40947491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctttctaggcctcaccacctCctgctcggcccctcccaggg	8	20	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:40947491C>G	ENST00000246914.5	+	15	2995	c.2974C>G	c.(2974-2976)Cct>Gct	p.P992A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	992			P -> S (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCACCACCTCCTGCTCGGCC	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													112	110	111					17																	40947491		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2974C>G	17.37:g.40947491C>G	ENSP00000246914:p.Pro992Ala		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P992A	ENST00000246914.5	37	c.2974	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	2.110	-0.403937	0.04832	.	.	ENSG00000126562	ENST00000246914	T	0.73047	-0.71	5.74	2.21	0.28008	.	0.188303	0.26297	N	0.025200	T	0.49064	0.1535	N	0.24115	0.695	0.20764	N	0.999857	B;B	0.19583	0.037;0.008	B;B	0.12837	0.008;0.004	T	0.22312	-1.0220	10	0.13108	T	0.6	-1.7677	7.681	0.28513	0.0:0.5852:0.2559:0.1589	.	992;992	Q96J92-3;Q96J92	.;WNK4_HUMAN	A	992	ENSP00000246914:P992A	ENSP00000246914:P992A	P	+	1	0	WNK4	38201017	0.007000	0.16637	0.422000	0.26621	0.017000	0.09413	0.459000	0.21908	0.774000	0.33427	0.591000	0.81541	CCT	WNK4	-	NULL		0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40947491	1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.002	G	G	40947491	C	G	40947491	3	3	9	1	0	0	0	0	1	0	0	0	17411	855	30	1	3032	1	WNK4	17	40947491	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	1553092	40947491	40247719	133	961										
GPATCH8	23131	genome.wustl.edu	37	chr17	42475272	42475272	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgggggtgagggtgaatgccGatggcggcagcagctgcggc	21	8	0	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:42475272G>A	ENST00000591680.1	-	8	4203	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	GPATCH8_ENST00000434000.1_Silent_p.I1313I	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1391							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTGAATGCCGATGGCGGCAG	0.572																																																	0													79	68	72					17																	42475272		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4173C>T	17.37:g.42475272G>A			B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.I1391	ENST00000591680.1	37	c.4173	CCDS32666.1	17																																																																																			GPATCH8	-	NULL		0.572	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42475272	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	silent	SNP	0.991	A	A	42475272	G	A	42475272	2	1	9	1	0	0	0	0	0	0	0	1	6613	1048	37	1		1	GPATCH8	17	42475272	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1527781	42475272	38719938	134	962										
ACBD4	79777	genome.wustl.edu	37	chr17	43214086	43214086	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggaacagtctgggcaagatGagcagggaggaggccatgtc	17	7	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:43214086G>A	ENST00000376955.4	+	4	534	c.237G>A	c.(235-237)atG>atA	p.M79I	ACBD4_ENST00000321854.8_Missense_Mutation_p.M79I|ACBD4_ENST00000586346.1_Missense_Mutation_p.M79I|ACBD4_ENST00000398322.3_Missense_Mutation_p.M79I|ACBD4_ENST00000592162.1_Missense_Mutation_p.M79I|ACBD4_ENST00000591859.1_Missense_Mutation_p.M79I|ACBD4_ENST00000431281.1_Missense_Mutation_p.M79I|ACBD4_ENST00000591136.1_3'UTR	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	79	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						TGGGCAAGATGAGCAGGGAGG	0.612																																																	0													78	87	84					17																	43214086		2039	4178	6217	SO:0001583	missense	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.237G>A	17.37:g.43214086G>A	ENSP00000366154:p.Met79Ile		D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.M79I	ENST00000376955.4	37	c.237	CCDS45711.1	17	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664412	0.67700	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.15	5.15	0.70609	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.044928	0.85682	D	0.000000	T	0.45935	0.1367	L	0.52364	1.645	0.36151	D	0.847446	D;P;D	0.69078	0.984;0.454;0.997	D;B;D	0.75484	0.955;0.192;0.986	T	0.52990	-0.8501	10	0.66056	D	0.02	.	16.1656	0.81754	0.0:0.0:1.0:0.0	.	79;79;79	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	I	79	ENSP00000405969:M79I;ENSP00000314440:M79I;ENSP00000381367:M79I;ENSP00000366154:M79I	ENSP00000314440:M79I	M	+	3	0	ACBD4	40569612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.037000	0.76531	2.677000	0.91161	0.561000	0.74099	ATG	ACBD4	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein		0.612	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	G	NM_024722		43214086	1	no_errors	ENST00000431281	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43214086	G	A	43214086	3	1	9	1	0	0	0	0	1	0	0	0	124	1290	45	1	247	1	ACBD4	17	43214086	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	738814	43214086	37981124	135	963										
HELZ	9931	genome.wustl.edu	37	chr17	65134104	65134104	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	taatctcttttttcgaagttCagcacgtattctaaacactt	4	9	3	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:65134104C>G	ENST00000358691.5	-	22	3062	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E967Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	966						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTCGAAGTTCAGCACGTATT	0.383																																																	0													205	208	207					17																	65134104		2091	4221	6312	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2896G>C	17.37:g.65134104C>G	ENSP00000351524:p.Glu966Gln		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E966Q	ENST00000358691.5	37	c.2896	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840320	0.51057	.	.	ENSG00000198265	ENST00000358691	D	0.82344	-1.6	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.79784	0.993;0.952	D	0.89009	0.3427	10	0.72032	D	0.01	-16.334	18.8583	0.92262	0.0:1.0:0.0:0.0	.	967;966	B7ZLW2;P42694	.;HELZ_HUMAN	Q	966	ENSP00000351524:E966Q	ENSP00000351524:E966Q	E	-	1	0	HELZ	62564566	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	GAA	HELZ	-	NULL		0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	C	NM_014877		65134104	-1	no_errors	ENST00000358691	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65134104	C	G	65134104	3	3	9	1	0	0	0	0	1	0	0	0	7069	835	29	1	2980	1	HELZ	17	65134104	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	21920018	65134104	16061106	136	964										
DNAH17	8632	genome.wustl.edu	37	chr17	76497914	76497914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atcctgtcgccagcgttgagGttccccatgagcagcgtgat	12	12	0	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:76497914G>A	ENST00000585328.1	-	34	5347	c.5223C>T	c.(5221-5223)aaC>aaT	p.N1741N	DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.N1733N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1733	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			CAGCGTTGAGGTTCCCCATGA	0.592																																																	0													151	156	154					17																	76497914		2191	4285	6476	SO:0001819	synonymous_variant	8632			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.5223C>T	17.37:g.76497914G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.N1733	ENST00000585328.1	37	c.5199		17																																																																																			DNAH17	-	NULL		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76497914	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.121	A	A	76497914	G	A	76497914	2	1	9	1	0	0	0	0	0	0	0	1	4611	1252	44	4		4	DNAH17	17	76497914	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	11363810	76497914	4697296	137	965										
DNAH17	8632	genome.wustl.edu	37	chr17	76501416	76501416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctgatcaaaaaccatgtactCgtcctccttgctgtacattc	5	13	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:76501416C>T	ENST00000585328.1	-	31	5030	c.4906G>A	c.(4906-4908)Gag>Aag	p.E1636K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E1635K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1635	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			ACCATGTACTCGTCCTCCTTG	0.562																																																	0													81	82	82					17																	76501416		2107	4221	6328	SO:0001583	missense	8632			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.4906G>A	17.37:g.76501416C>T	ENSP00000465516:p.Glu1636Lys		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E1635K	ENST00000585328.1	37	c.4903		17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678187	0.88542	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.78126	-1.15	4.02	4.02	0.46733	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.93154	0.7820	H	0.99104	4.43	0.50039	D	0.999842	D	0.89917	1.0	D	0.87578	0.998	D	0.96333	0.9245	9	0.87932	D	0	.	16.3311	0.83015	0.0:1.0:0.0:0.0	.	1635	Q9UFH2	DYH17_HUMAN	K	1636;1635	ENSP00000374490:E1635K	ENSP00000300671:E1636K	E	-	1	0	DNAH17	74013011	1.000000	0.71417	0.991000	0.47740	0.639000	0.38242	7.177000	0.77650	2.054000	0.61138	0.555000	0.69702	GAG	DNAH17	-	pfam_Dynein_heavy_dom-2		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76501416	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76501416	C	T	76501416	3	4	9	1	0	0	0	0	1	0	0	0	4611	893	31	1	8677	1	DNAH17	17	76501416	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	3502	76501416	4693794	138	966										
ENGASE	64772	genome.wustl.edu	37	chr17	77077040	77077040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggaacatgcctcctttcctgCggtacctcaccacacagctg	8	16	1	0	rs200445672	byFrequency	TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr17:77077040C>T	ENST00000579016.1	+	6	757	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ENGASE_ENST00000539857.2_Missense_Mutation_p.R67W	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	253						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCCTTTCCTGCGGTACCTCAC	0.567													C|||	7	0.00139776	0	0	5008	,	,		14230	0		0	False		,,,				2504	0.0072																0													78	84	82					17																	77077040		2157	4262	6419	SO:0001583	missense	64772			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.757C>T	17.37:g.77077040C>T	ENSP00000462333:p.Arg253Trp		Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.R253W	ENST00000579016.1	37	c.757	CCDS42394.1	17	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109400	0.20714	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.0	1.7	0.24286	Glycoside hydrolase, family 85 (1);	0.369996	0.30473	N	0.009551	T	0.44138	0.1279	M	0.85197	2.74	0.29039	N	0.885215	B;B;B	0.33512	0.005;0.208;0.415	B;B;B	0.29663	0.001;0.062;0.105	T	0.43653	-0.9378	8	.	.	.	-13.2285	5.2238	0.15383	0.2613:0.5752:0.0:0.1634	.	67;253;253	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	W	253	.	.	R	+	1	2	ENGASE	74588635	0.443000	0.25641	0.602000	0.28890	0.047000	0.14425	1.973000	0.40550	0.636000	0.30508	-0.122000	0.15005	CGG	ENGASE	-	pfam_Glyco_hydro_85		0.567	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	C	NM_022759		77077040	1	no_errors	ENST00000579016	ensembl	human	known	70_37	missense	SNP	0.998	T	T	77077040	C	T	77077040	3	4	9	1	0	0	0	0	1	0	0	0	5130	759	27	2	779	2	ENGASE	17	77077040	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	575624	77077040	4118170	139	967										
NDC80	10403	genome.wustl.edu	37	chr18	2577797	2577797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttggtatattttccagttctGagaaaatcaaggacccgaga	9	7	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr18:2577797G>C	ENST00000261597.4	+	4	414	c.232G>C	c.(232-234)Gag>Cag	p.E78Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	78	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTCCAGTTCTGAGAAAATCAA	0.368																																																	0													82	82	82					18																	2577797		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.232G>C	18.37:g.2577797G>C	ENSP00000261597:p.Glu78Gln		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E78Q	ENST00000261597.4	37	c.232	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794291	0.70452	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.43294	0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.41710	1.295	0.80722	D	1	D	0.57899	0.981	D	0.63033	0.91	T	0.32771	-0.9894	10	0.13853	T	0.58	-18.3372	19.69	0.95996	0.0:0.0:1.0:0.0	.	78	O14777	NDC80_HUMAN	Q	78	ENSP00000261597:E78Q	ENSP00000261597:E78Q	E	+	1	0	NDC80	2567797	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.676000	0.91199	2.648000	0.89879	0.650000	0.86243	GAG	NDC80	-	pfam_Kinetochore_Ndc80		0.368	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2577797	1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2577797	G	C	2577797	3	2	9	1	0	0	0	0	1	0	0	0	10266	1291	45	1	242	1	NDC80	18	2577797	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		2577797	75499451	140	968										
NDC80	10403	genome.wustl.edu	37	chr18	2579017	2579017	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cagccttagtttggctaataGactgcatcaaggtatttgat	9	7	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr18:2579017G>C	ENST00000261597.4	+	6	750	c.568G>C	c.(568-570)Gac>Cac	p.D190H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	190	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGGCTAATAGACTGCATCAA	0.388																																																	0													95	83	87					18																	2579017		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.568G>C	18.37:g.2579017G>C	ENSP00000261597:p.Asp190His		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.D190H	ENST00000261597.4	37	c.568	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622559	0.87460	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.46819	0.86	5.31	5.31	0.75309	.	0.044427	0.85682	D	0.000000	T	0.66056	0.2751	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66760	-0.5842	10	0.59425	D	0.04	-16.3711	17.5208	0.87787	0.0:0.0:1.0:0.0	.	190	O14777	NDC80_HUMAN	H	190	ENSP00000261597:D190H	ENSP00000261597:D190H	D	+	1	0	NDC80	2569017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.222000	0.89777	2.648000	0.89879	0.555000	0.69702	GAC	NDC80	-	pfam_Kinetochore_Ndc80		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2579017	1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2579017	G	C	2579017	3	2	9	1	0	0	0	0	1	0	0	0	10266	942	33	1	586	1	NDC80	18	2579017	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1220	2579017	75498231	141	969										
SOCS6	9306	genome.wustl.edu	37	chr18	67993286	67993286	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agttgatctaattgagcattCaatcagggactctgaaaatg	9	6	4	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr18:67993286C>A	ENST00000397942.3	+	2	1698	c.1382C>A	c.(1381-1383)tCa>tAa	p.S461*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.S461*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	461	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATTGAGCATTCAATCAGGGAC	0.453																																					Melanoma(84;1024 1361 24382 36583 42651)												0													117	113	114					18																	67993286		2203	4300	6503	SO:0001587	stop_gained	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1382C>A	18.37:g.67993286C>A	ENSP00000381034:p.Ser461*		Q8WUM3	Nonsense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S461*	ENST00000397942.3	37	c.1382	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.302348	0.98196	.	.	ENSG00000170677	ENST00000397942	.	.	.	5.7	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8719	12.2201	0.54429	0.0:0.8633:0.0:0.1367	.	.	.	.	X	461	.	ENSP00000381034:S461X	S	+	2	0	SOCS6	66144266	1.000000	0.71417	0.963000	0.40424	0.972000	0.66771	7.666000	0.83877	0.771000	0.33359	-0.258000	0.10820	TCA	SOCS6	-	smart_SH2,pfscan_SH2		0.453	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	C			67993286	1	no_errors	ENST00000397942	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	67993286	C	A	67993286	4	1	9	1	0	0	0	0	0	1	0	0	14948	838	29	3	1384	3	SOCS6	18	67993286	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	65414269	67993286	10083962	142	970										
RNF126	55658	genome.wustl.edu	37	chr19	648229	648229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gaggccaggggggttcgtggCcgtgttctgtcccgtgaggc	19	10	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:648229C>A	ENST00000292363.5	-	9	990	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTTCGTGGCCGTGTTCTGT	0.642																																																	0													87	71	76					19																	648229		2195	4297	6492	SO:0001583	missense	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.835G>T	19.37:g.648229C>A	ENSP00000292363:p.Ala279Ser			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A279S	ENST00000292363.5	37	c.835	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	N	16.92	3.256439	0.59321	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.15256	2.44	3.75	3.75	0.43078	.	0.061314	0.64402	U	0.000005	T	0.22085	0.0532	L	0.29908	0.895	0.47994	D	0.999562	D;B	0.65815	0.995;0.12	P;B	0.59703	0.862;0.032	T	0.02391	-1.1166	10	0.09084	T	0.74	.	14.9304	0.70911	0.0:1.0:0.0:0.0	.	279;131	Q9BV68-2;Q9NPN4	.;.	S	279	ENSP00000292363:A279S	ENSP00000292363:A279S	A	-	1	0	RNF126	599229	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.632000	0.83247	1.812000	0.52913	0.442000	0.29010	GCC	RNF126	-	NULL		0.642	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	C	NM_017876		648229	-1	no_errors	ENST00000292363	ensembl	human	known	70_37	missense	SNP	1.000	A	A	648229	C	A	648229	3	1	9	1	0	0	0	0	1	0	0	0	13465	739	26	4	104	4	RNF126	19	648229	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		648229	58480754	143	971										
MUM1	84939	genome.wustl.edu	37	chr19	1360225	1360225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggacgttctgagcgagggctCgatttggagtcaagaaagct	15	7	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:1360225C>T	ENST00000415183.3	+	4	334	c.308C>T	c.(307-309)tCg>tTg	p.S103L	MUM1_ENST00000311401.5_Missense_Mutation_p.S34L|MUM1_ENST00000344663.3_Missense_Mutation_p.S103L|MUM1_ENST00000591806.1_Missense_Mutation_p.S103L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	102					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGAGGGCTCGATTTGGAGT	0.597											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97	94	95					19																	1360225		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.308C>T	19.37:g.1360225C>T	ENSP00000394925:p.Ser103Leu	595	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.S103L	ENST00000415183.3	37	c.308		19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743834	0.30865	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.34072	1.38;1.38;1.38	4.58	1.14	0.20703	.	2.327930	0.01483	N	0.016740	T	0.20577	0.0495	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.21793	-1.0235	10	0.59425	D	0.04	.	3.1057	0.06341	0.1807:0.5467:0.175:0.0976	.	103;103;34;102	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	103;34;103;32	ENSP00000345789:S103L;ENSP00000309135:S34L;ENSP00000394925:S103L	ENSP00000309135:S34L	S	+	2	0	MUM1	1311225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.156000	0.10100	0.149000	0.19098	-0.137000	0.14449	TCG	MUM1	-	NULL		0.597	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1360225	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1360225	C	T	1360225	3	4	9	1	0	0	0	0	1	0	0	0	10008	893	31	1	322	1	MUM1	19	1360225	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	711996	1360225	57768758	144	972										
MUM1	84939	genome.wustl.edu	37	chr19	1360624	1360624	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cctgaatggatcttccctttCagaggacgacacggagagag	12	10	2	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:1360624C>T	ENST00000415183.3	+	4	733	c.707C>T	c.(706-708)tCa>tTa	p.S236L	MUM1_ENST00000311401.5_Missense_Mutation_p.S167L|MUM1_ENST00000344663.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	235					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCCCTTTCAGAGGACGAC	0.577																																																	0													67	66	66					19																	1360624		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.707C>T	19.37:g.1360624C>T	ENSP00000394925:p.Ser236Leu		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.S236L	ENST00000415183.3	37	c.707		19	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470564	0.26423	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.27890	1.67;1.64;1.65	4.49	2.31	0.28768	.	2.862850	0.00984	N	0.003438	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.39551	0.51;0.678;0.642;0.51	B;B;B;B	0.38458	0.142;0.235;0.274;0.142	T	0.21999	-1.0229	10	0.62326	D	0.03	.	5.8286	0.18568	0.0:0.6966:0.1979:0.1055	.	236;236;167;235	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	236;167;236;165	ENSP00000345789:S236L;ENSP00000309135:S167L;ENSP00000394925:S236L	ENSP00000309135:S167L	S	+	2	0	MUM1	1311624	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.483000	0.22292	0.595000	0.29777	0.650000	0.86243	TCA	MUM1	-	NULL		0.577	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1360624	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.001	T	T	1360624	C	T	1360624	3	4	9	1	0	0	0	0	1	0	0	0	10008	838	29	1	721	1	MUM1	19	1360624	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	399	1360624	57768359	145	973										
SH3GL1	6455	genome.wustl.edu	37	chr19	4361723	4361723	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gtgatgacgtcgccctcatgGaagcccagctccccgtcgtt	11	15	1	2	rs201385705		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:4361723G>A	ENST00000269886.3	-	10	1159	c.981C>T	c.(979-981)ttC>ttT	p.F327F	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.F263F|SH3GL1_ENST00000417295.2_Silent_p.F279F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	327	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGCCCTCATGGAAGCCCAGCT	0.672			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													103	77	86					19																	4361723		2203	4300	6503	SO:0001819	synonymous_variant	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.981C>T	19.37:g.4361723G>A			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.F327	ENST00000269886.3	37	c.981	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.672	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	G	NM_003025		4361723	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4361723	G	A	4361723	2	1	9	1	0	0	0	0	0	0	0	1	14280	1165	41	1		1	SH3GL1	19	4361723	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	3001099	4361723	54767260	146	974										
TMEM146	257062	genome.wustl.edu	37	chr19	5729891	5729891	+	Frame_Shift_Del	DEL	T	T	-													0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgtttatttcaggaaacaagTttttttcacaatggataact							TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:5729891delT	ENST00000381624.3	+	4	273	c.212delT	c.(211-213)gttfs	p.V71fs	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	71					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AGGAAACAAGTTTTTTTCACA	0.323																																																	0													113	104	107					19																	5729891		1811	4063	5874	SO:0001589	frameshift_variant	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.212delT	19.37:g.5729891delT	ENSP00000371037:p.Val71fs		Q6ZRP1	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.F73fs	ENST00000381624.3	37	c.212	CCDS12149.2	19																																																																																			CATSPERD	-	NULL		0.323	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	T	NM_152784		5729891	1	no_errors	ENST00000381624	ensembl	human	known	70_37	frame_shift_del	DEL	0.840	-	-	5729891	T	-	5729891	7	5	9	1	0	1	0	1	0	0	0	0	16090	1725	60	0	226	0	TMEM146	19	5729891	Frame_Shift_Del	DEL	T	TCGA-C5-A1BK-01B-11D-A13W-08	1368168	5729891	53399092	147	975										
SH2D3A	10045	genome.wustl.edu	37	chr19	6755149	6755149	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agtacgtcgggggacgttcaGaggcatcaggcagttcgaag	16	8	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:6755149G>C	ENST00000245908.6	-	5	943	c.674C>G	c.(673-675)tCt>tGt	p.S225C	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.S103C	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	225					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.S225F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGACGTTCAGAGGCATCAGG	0.652																																																	1	Substitution - Missense(1)	skin(1)											122	135	131					19																	6755149		2203	4300	6503	SO:0001583	missense	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.674C>G	19.37:g.6755149G>C	ENSP00000245908:p.Ser225Cys		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.S225C	ENST00000245908.6	37	c.674	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	G	8.887	0.952949	0.18431	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.34859	2.45;1.34	4.23	4.23	0.50019	Ras guanine nucleotide exchange factor, domain (1);	0.230722	0.22354	N	0.061165	T	0.53997	0.1831	M	0.71581	2.175	0.09310	N	1	D;P	0.69078	0.997;0.876	P;B	0.58873	0.847;0.417	T	0.50338	-0.8840	10	0.62326	D	0.03	-7.915	14.457	0.67423	0.0:0.0:1.0:0.0	.	103;225	B4DRS7;Q9BRG2	.;SH23A_HUMAN	C	225;103	ENSP00000245908:S225C;ENSP00000393303:S103C	ENSP00000245908:S225C	S	-	2	0	SH2D3A	6706149	0.006000	0.16342	0.041000	0.18516	0.069000	0.16628	1.302000	0.33459	2.062000	0.61559	0.462000	0.41574	TCT	SH2D3A	-	superfamily_Ras_GEF_dom		0.652	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	G	NM_005490		6755149	-1	no_errors	ENST00000245908	ensembl	human	known	70_37	missense	SNP	0.297	C	C	6755149	G	C	6755149	3	2	9	1	0	0	0	0	1	0	0	0	14263	942	33	1	1080	1	SH2D3A	19	6755149	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1025258	6755149	52373834	148	976										
PDE4A	5141	genome.wustl.edu	37	chr19	10572231	10572231	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggcgctcatgtacaacgatGagtcggtgctcgagaatcac	12	10	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:10572231G>A	ENST00000352831.6	+	12	1605	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	PDE4A_ENST00000440014.2_Missense_Mutation_p.E438K|PDE4A_ENST00000592685.1_Missense_Mutation_p.E477K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E260K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E473K|PDE4A_ENST00000380702.2_Missense_Mutation_p.E477K	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	499	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GTACAACGATGAGTCGGTGCT	0.647																																																	0													75	67	70					19																	10572231		2203	4300	6503	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1495G>A	19.37:g.10572231G>A	ENSP00000270474:p.Glu499Lys		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.E499K	ENST00000352831.6	37	c.1495	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117092	0.77323	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.92	3.92	0.45320	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.055797	0.64402	D	0.000001	D	0.83644	0.5299	L	0.35487	1.065	0.80722	D	1	B;D;D;D;P	0.89917	0.175;1.0;0.999;0.968;0.941	B;D;D;P;P	0.85130	0.029;0.997;0.992;0.686;0.522	D	0.85522	0.1204	10	0.72032	D	0.01	.	13.4357	0.61082	0.0:0.0:1.0:0.0	.	165;260;438;473;499	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	K	477;499;473;438;260;165	ENSP00000370078:E477K;ENSP00000270474:E499K;ENSP00000293683:E473K;ENSP00000394754:E438K;ENSP00000341007:E260K	ENSP00000293683:E473K	E	+	1	0	PDE4A	10433231	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	6.369000	0.73109	2.032000	0.59987	0.585000	0.79938	GAG	PDE4A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	G			10572231	1	no_errors	ENST00000352831	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10572231	G	A	10572231	3	1	9	1	0	0	0	0	1	0	0	0	11663	1291	45	1	1998	1	PDE4A	19	10572231	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	3817082	10572231	48556752	149	977										
PRKCSH	5589	genome.wustl.edu	37	chr19	11557090	11557090	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctgccacgcccccgcagggtCtcggtgactgagctgcagac	13	16	1	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:11557090C>A	ENST00000589838.1	+	8	687	c.687C>A	c.(685-687)gtC>gtA	p.V229V	PRKCSH_ENST00000591462.1_Silent_p.V229V|PRKCSH_ENST00000252455.2_Silent_p.V229V|PRKCSH_ENST00000412601.1_Silent_p.V229V|PRKCSH_ENST00000592741.1_Silent_p.V229V|PRKCSH_ENST00000587327.1_Silent_p.V229V			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	229	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCCGCAGGGTCTCGGTGACTG	0.667																																																	0													54	50	51					19																	11557090		2203	4300	6503	SO:0001819	synonymous_variant	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.687C>A	19.37:g.11557090C>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_HAND_2	p.V229	ENST00000589838.1	37	c.687	CCDS32911.1	19																																																																																			PRKCSH	-	pfscan_EF_HAND_2		0.667	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	C			11557090	1	no_errors	ENST00000252455	ensembl	human	known	70_37	silent	SNP	0.833	A	A	11557090	C	A	11557090	2	1	9	1	0	0	0	0	0	0	0	1	12543	900	32	3		3	PRKCSH	19	11557090	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	984859	11557090	47571893	150	978										
WDR83	84292	genome.wustl.edu	37	chr19	12781580	12781580	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agccagtgcagacgctggatGaggccagagatggcgtgtcc	16	10	0	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:12781580G>A	ENST00000418543.3	+	7	800	c.451G>A	c.(451-453)Gag>Aag	p.E151K	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.E151K|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000600694.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	151					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GACGCTGGATGAGGCCAGAGA	0.602																																																	0													80	70	73					19																	12781580		2203	4300	6503	SO:0001583	missense	84292			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.451G>A	19.37:g.12781580G>A	ENSP00000402653:p.Glu151Lys		B2RAF1|Q53FT6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E151K	ENST00000418543.3	37	c.451	CCDS12275.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.884214|5.884214	0.97062|0.97062	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	T;T|.	0.81163|.	-1.46;-1.46|.	5.21|5.21	5.21|5.21	0.72293|0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84297|0.84297	0.5441|0.5441	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.60541|.	0.876|.	D|D	0.85275|0.85275	0.1058|0.1058	10|6	0.56958|0.36615	D|T	0.05|0.2	.|.	17.8801|17.8801	0.88838|0.88838	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	151|.	Q9BRX9|.	WDR83_HUMAN|.	K|I	151|53	ENSP00000402653:E151K;ENSP00000242796:E151K|.	ENSP00000242796:E151K|ENSP00000448331:M145I	E|M	+|+	1|3	0|0	WDR83|WDR83	12642580|12642580	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.940000|0.940000	0.58332|0.58332	8.843000|8.843000	0.92142|0.92142	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GAG|ATG	WDR83	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.602	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR83	HGNC	protein_coding	OTTHUMT00000403648.1	G	NM_032332		12781580	1	no_errors	ENST00000242796	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12781580	G	A	12781580	3	1	9	1	0	0	0	0	1	0	0	0	17363	1291	45	1	469	1	WDR83	19	12781580	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1224490	12781580	46347403	151	979										
CD22	933	genome.wustl.edu	37	chr19	35836524	35836524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggttagaagggcccccctctCtgaaggcccccactccctgg	11	17	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:35836524C>G	ENST00000085219.5	+	12	2294	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C	CD22_ENST00000544992.2_Intron|CD22_ENST00000270311.6_Intron|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000536635.2_Missense_Mutation_p.S655C|CD22_ENST00000341773.6_Missense_Mutation_p.S566C|CD22_ENST00000594250.1_Missense_Mutation_p.S566C|CD22_ENST00000419549.2_Missense_Mutation_p.S571C	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	743					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCCCCTCTCTGAAGGCCCC	0.587																																					Ovarian(42;1009 1133 23674 26041)												0													99	80	86					19																	35836524		2203	4300	6503	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2228C>G	19.37:g.35836524C>G	ENSP00000085219:p.Ser743Cys		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S743C	ENST00000085219.5	37	c.2228	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339069	0.41398	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000419549	T;T;T;T	0.56103	0.93;0.54;0.48;1.0	4.15	2.94	0.34122	.	1.203230	0.06125	N	0.669485	T	0.66307	0.2776	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.998;0.999;0.998;1.0	P;D;P;D	0.69479	0.747;0.951;0.747;0.964	T	0.44097	-0.9350	10	0.54805	T	0.06	.	6.1433	0.20271	0.0:0.816:0.0:0.184	.	571;655;743;566	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	C	743;655;566;571	ENSP00000085219:S743C;ENSP00000442279:S655C;ENSP00000339349:S566C;ENSP00000403822:S571C	ENSP00000085219:S743C	S	+	2	0	CD22	40528364	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.646000	0.24797	0.856000	0.35383	0.462000	0.41574	TCT	CD22	-	NULL		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	C	NM_001771		35836524	1	no_errors	ENST00000085219	ensembl	human	known	70_37	missense	SNP	0.001	G	G	35836524	C	G	35836524	3	3	9	1	0	0	0	0	1	0	0	0	2990	913	32	1	2270	1	CD22	19	35836524	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	23054944	35836524	23292459	152	980										
TYROBP	7305	genome.wustl.edu	37	chr19	36395531	36395531	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acatccgacctctgaccctgGagctcctaaaggaatggggg	12	12	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:36395531G>C	ENST00000262629.4	-	5	348	c.282C>G	c.(280-282)ctC>ctG	p.L94L	TYROBP_ENST00000424586.3_Silent_p.L82L|NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank|TYROBP_ENST00000589517.1_Silent_p.L93L|TYROBP_ENST00000544690.2_Silent_p.L83L|TYROBP_ENST00000585901.2_Silent_p.L125L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	94	ITAM.				axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTGACCCTGGAGCTCCTAAA	0.542																																																	0													76	68	71					19																	36395531		2203	4300	6503	SO:0001819	synonymous_variant	7305			AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"killer activating receptor associated protein", "DNAX-activation protein 12"	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.282C>G	19.37:g.36395531G>C			A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	NULL	p.L94	ENST00000262629.4	37	c.282	CCDS12482.1	19																																																																																			TYROBP	-	NULL		0.542	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TYROBP	HGNC	protein_coding	OTTHUMT00000457397.1	G			36395531	-1	no_errors	ENST00000262629	ensembl	human	known	70_37	silent	SNP	1.000	C	C	36395531	G	C	36395531	2	2	9	1	0	0	0	0	0	0	0	1	16846	1161	41	1		1	TYROBP	19	36395531	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	559007	36395531	22733452	153	981										
ZFP82	284406	genome.wustl.edu	37	chr19	36884445	36884445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gatgcagagtaagttgtcctCgtaccctaaaagccttccca	8	12	0	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:36884445C>T	ENST00000392161.3	-	5	1039	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	ZFP82_ENST00000392171.1_Missense_Mutation_p.R266Q	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGTTGTCCTCGTACCCTAAA	0.433																																																	0													153	153	153					19																	36884445		2203	4300	6503	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.797G>A	19.37:g.36884445C>T	ENSP00000431265:p.Arg266Gln		Q8NC63|Q8TF53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R266Q	ENST00000392161.3	37	c.797	CCDS12493.1	19	.	.	.	.	.	.	.	.	.	.	C	3.968	-0.009019	0.07727	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08008	3.14;3.14	4.47	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002235	T	0.03220	0.0094	N	0.11023	0.085	0.09310	N	1	B	0.25351	0.124	B	0.09377	0.004	T	0.36480	-0.9746	10	0.29301	T	0.29	.	2.2876	0.04130	0.1995:0.4964:0.1921:0.1121	.	266	Q8N141	ZFP82_HUMAN	Q	266	ENSP00000431265:R266Q;ENSP00000446080:R266Q	ENSP00000431265:R266Q	R	-	2	0	ZFP82	41576285	0.000000	0.05858	0.948000	0.38648	0.992000	0.81027	-0.421000	0.07053	2.319000	0.78375	0.655000	0.94253	CGA	ZFP82	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP82	HGNC	protein_coding	OTTHUMT00000109552.2	C	NM_133466		36884445	-1	no_errors	ENST00000392161	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36884445	C	T	36884445	3	4	9	1	0	0	0	0	1	0	0	0	17683	884	31	1	805	1	ZFP82	19	36884445	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	488914	36884445	22244538	154	982										
IL28B	282617	genome.wustl.edu	37	chr19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agtccttcagcagaagcgacTcttcctagacagcaaaggca	9	12	2	2	rs199677823		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	62					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGAAGCGACTCTTCCTAGAC	0.617																																																	0													24	32	29					19																	39735130		2201	4298	6499	SO:0001583	missense	282617			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val		A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	NULL	p.E62V	ENST00000413851.2	37	c.185	CCDS12530.1	19	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG	IL28B	-	NULL		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28B	HGNC	protein_coding	OTTHUMT00000463832.1	T	NM_172139		39735130	-1	no_errors	ENST00000413851	ensembl	human	known	70_37	missense	SNP	0.035	A	A	39735130	T	A	39735130	3	1	9	1	0	0	0	0	1	0	0	0	7703	1551	54	5	420	5	IL28B	19	39735130	Missense_Mutation	SNP	T	TCGA-C5-A1BK-01B-11D-A13W-08	2850685	39735130	19393853	155	983										
HIPK4	147746	genome.wustl.edu	37	chr19	40890035	40890035	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ctgaaaatgctggcggatccGaagtcaatcacctgtcgggg	13	10	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:40890035G>A	ENST00000291823.2	-	2	761	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCGGATCCGAAGTCAATCA	0.632																																																	0													49	52	51					19																	40890035		2203	4300	6503	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.477C>T	19.37:g.40890035G>A			A8K863|Q96M54	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F159	ENST00000291823.2	37	c.477	CCDS12555.1	19																																																																																			HIPK4	-	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		0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	G	NM_144685		40890035	-1	no_errors	ENST00000291823	ensembl	human	known	70_37	silent	SNP	0.818	A	A	40890035	G	A	40890035	2	1	9	1	0	0	0	0	0	0	0	1	7139	1049	37	1		1	HIPK4	19	40890035	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1154905	40890035	18238948	156	984										
CYP2B6	1555	genome.wustl.edu	37	chr19	41522627	41522627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	accaccatcctccagaacttCtccatggccagccccgtggc	7	19	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:41522627C>T	ENST00000324071.4	+	9	1378	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CYP2B6_ENST00000330446.5_Silent_p.F257F|CYP2B6_ENST00000593831.1_Silent_p.F221F	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	457					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCCAGAACTTCTCCATGGCCA	0.572																																																	0													89	66	74					19																	41522627		2203	4300	6503	SO:0001819	synonymous_variant	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1371C>T	19.37:g.41522627C>T			B4DWP3|Q2V565|Q9UK46	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.F457	ENST00000324071.4	37	c.1371	CCDS12570.1	19																																																																																			CYP2B6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	C	NM_000767		41522627	1	no_errors	ENST00000324071	ensembl	human	known	70_37	silent	SNP	0.992	T	T	41522627	C	T	41522627	2	4	9	1	0	0	0	0	0	0	0	1	4169	912	32	1		1	CYP2B6	19	41522627	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	632592	41522627	17606356	157	985										
LYPD5	284348	genome.wustl.edu	37	chr19	44302644	44302644	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ttgccctggaagcaggcggtCtggtcctggtgacactggac	15	11	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:44302644C>G	ENST00000377950.3	-	4	560	c.480G>C	c.(478-480)caG>caC	p.Q160H	LYPD5_ENST00000414615.2_Missense_Mutation_p.Q117H|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000594013.1_Missense_Mutation_p.Q117H	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	160	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				AGCAGGCGGTCTGGTCCTGGT	0.647																																																	0													109	93	99					19																	44302644		2203	4300	6503	SO:0001583	missense	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.480G>C	19.37:g.44302644C>G	ENSP00000367185:p.Gln160His		Q6PEX9|Q96DR2	Missense_Mutation	SNP	pfam_LY6_UPAR	p.Q160H	ENST00000377950.3	37	c.480	CCDS46096.1	19	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861708	0.51482	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.70631	-0.5;-0.5	4.25	0.543	0.17179	CD59 antigen, conserved site (1);CD59 antigen (1);	0.000000	0.35970	N	0.002878	T	0.69387	0.3105	L	0.32530	0.975	0.29268	N	0.870846	D	0.69078	0.997	D	0.65323	0.934	T	0.64711	-0.6343	10	0.22109	T	0.4	-10.2711	10.2199	0.43190	0.0:0.8026:0.0:0.1974	.	160	Q6UWN5	LYPD5_HUMAN	H	160;117	ENSP00000367185:Q160H;ENSP00000408433:Q117H	ENSP00000367185:Q160H	Q	-	3	2	LYPD5	48994484	0.995000	0.38212	0.945000	0.38365	0.633000	0.38033	0.552000	0.23376	-0.017000	0.14103	0.561000	0.74099	CAG	LYPD5	-	pfam_LY6_UPAR		0.647	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	C	NM_182573		44302644	-1	no_errors	ENST00000377950	ensembl	human	known	70_37	missense	SNP	0.939	G	G	44302644	C	G	44302644	3	3	9	1	0	0	0	0	1	0	0	0	9136	912	32	1	283	1	LYPD5	19	44302644	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	2780017	44302644	14826339	158	986										
LMTK3	114783	genome.wustl.edu	37	chr19	49004787	49004787	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cgatgcgcacggtcaggtcaGaggtcagcaggcagttgcgc	16	11	3	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:49004787G>C	ENST00000600059.1	-	8	1054	c.827C>G	c.(826-828)tCt>tGt	p.S276C	LMTK3_ENST00000270238.3_Missense_Mutation_p.S305C			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTCAGGTCAGAGGTCAGCAG	0.687																																																	0													40	48	45					19																	49004787		2189	4264	6453	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.827C>G	19.37:g.49004787G>C	ENSP00000472020:p.Ser276Cys		Q4G0U1	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S305C	ENST00000600059.1	37	c.914		19	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567719	0.86439	.	.	ENSG00000142235	ENST00000270238	D	0.83591	-1.74	3.44	3.44	0.39384	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000003	D	0.90170	0.6928	M	0.80183	2.485	0.48830	D	0.999711	D	0.89917	1.0	D	0.79784	0.993	D	0.91363	0.5113	10	0.72032	D	0.01	.	12.8489	0.57846	0.0:0.0:1.0:0.0	.	276	Q96Q04	LMTK3_HUMAN	C	305	ENSP00000270238:S305C	ENSP00000270238:S305C	S	-	2	0	LMTK3	53696599	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	6.799000	0.75160	1.950000	0.56595	0.444000	0.29173	TCT	LMTK3	-	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,pfscan_Prot_kinase_cat_dom		0.687	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49004787	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49004787	G	C	49004787	3	2	9	1	0	0	0	0	1	0	0	0	8881	942	33	1	3587	1	LMTK3	19	49004787	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	4702143	49004787	10124196	159	987										
CPT1C	126129	genome.wustl.edu	37	chr19	50204795	50204795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atcctctccgacgaggacttCgactggaccgcggtcctggc	12	15	1	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:50204795C>T	ENST00000392518.4	+	7	969	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CPT1C_ENST00000598293.1_Silent_p.F199F|CPT1C_ENST00000323446.5_Silent_p.F199F|CPT1C_ENST00000405931.2_Silent_p.F199F|CPT1C_ENST00000354199.5_Silent_p.F199F	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	199					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACGAGGACTTCGACTGGACCG	0.677																																																	0													39	35	37					19																	50204795		2203	4300	6503	SO:0001819	synonymous_variant	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.597C>T	19.37:g.50204795C>T			A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	pfam_Carn_acyl_trans	p.F199	ENST00000392518.4	37	c.597	CCDS12779.1	19																																																																																			CPT1C	-	pfam_Carn_acyl_trans		0.677	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	C	NM_152359		50204795	1	no_errors	ENST00000323446	ensembl	human	known	70_37	silent	SNP	0.998	T	T	50204795	C	T	50204795	2	4	9	1	0	0	0	0	0	0	0	1	3838	883	31	1		1	CPT1C	19	50204795	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	1200008	50204795	8924188	160	988										
ZIM2	23619	genome.wustl.edu	37	chr19	57293432	57293432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gaagtccacaagcacatcctCgaaggtcaccaactcctcaa	6	15	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:57293432C>T	ENST00000391708.3	-	10	1077	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ZIM2_ENST00000593711.1_Missense_Mutation_p.E179K|ZIM2_ENST00000601070.1_Missense_Mutation_p.E179K|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.E179K|ZIM2_ENST00000599935.1_Missense_Mutation_p.E179K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	179	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E179Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGCACATCCTCGAAGGTCACC	0.498																																																	1	Substitution - Missense(1)	lung(1)											174	152	159					19																	57293432		2203	4300	6503	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.535G>A	19.37:g.57293432C>T	ENSP00000375589:p.Glu179Lys		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E179K	ENST00000391708.3	37	c.535	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355648	0.01256	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.01685	4.69;4.69	5.21	-10.4	0.00318	Krueppel-associated box (4);	.	.	.	.	T	0.00967	0.0032	N	0.11673	0.155	.	.	.	B	0.15473	0.013	B	0.08055	0.003	T	0.46871	-0.9160	8	0.02654	T	1	.	16.5244	0.84327	0.0:0.5825:0.3201:0.0975	.	179	Q9NZV7	ZIM2_HUMAN	K	179	ENSP00000375589:E179K;ENSP00000221722:E179K	ENSP00000221722:E179K	E	-	1	0	ZIM2	61985244	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.888000	0.01616	-3.865000	0.00097	-0.982000	0.02568	GAG	ZIM2	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	C			57293432	-1	no_errors	ENST00000221722	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57293432	C	T	57293432	3	4	9	1	0	0	0	0	1	0	0	0	17714	893	31	1	1060	1	ZIM2	19	57293432	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	7088637	57293432	1835551	161	989										
USP29	57663	genome.wustl.edu	37	chr19	57641688	57641688	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	atgaaagcaccaaaccacctCttcccttgagcagtagtgca	7	13	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr19:57641688C>T	ENST00000254181.4	+	4	2099	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	USP29_ENST00000598197.1_Missense_Mutation_p.L549F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	549	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAACCACCTCTTCCCTTGAG	0.413																																																	0													138	148	145					19																	57641688		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1645C>T	19.37:g.57641688C>T	ENSP00000254181:p.Leu549Phe			Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L549F	ENST00000254181.4	37	c.1645	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.054505	0.01965	.	.	ENSG00000131864	ENST00000254181	T	0.76186	-1.0	2.52	0.351	0.16042	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.562652	0.14030	N	0.346212	T	0.57504	0.2058	L	0.46741	1.465	0.21499	N	0.99967	B	0.33171	0.4	B	0.30251	0.113	T	0.40001	-0.9586	10	0.12430	T	0.62	-7.2363	4.7806	0.13201	0.0:0.4941:0.0:0.5059	.	549	Q9HBJ7	UBP29_HUMAN	F	549	ENSP00000254181:L549F	ENSP00000254181:L549F	L	+	1	0	USP29	62333500	0.119000	0.22226	0.041000	0.18516	0.145000	0.21501	0.101000	0.15251	0.119000	0.18210	0.467000	0.42956	CTT	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	C			57641688	1	no_errors	ENST00000254181	ensembl	human	known	70_37	missense	SNP	0.891	T	T	57641688	C	T	57641688	3	4	9	1	0	0	0	0	1	0	0	0	17090	913	32	1	1647	1	USP29	19	57641688	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	348256	57641688	1487295	162	990										
PROKR2	128674	genome.wustl.edu	37	chr20	5294782	5294782	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cgcaacttcttatagcgggtGagggcagcgataaagacaaa	12	8	1	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:5294782G>A	ENST00000217270.3	-	1	233	c.234C>T	c.(232-234)ctC>ctT	p.L78L	PROKR2_ENST00000546004.1_Silent_p.L78L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	78					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TATAGCGGGTGAGGGCAGCGA	0.557										HNSCC(71;0.22)																																							0													179	142	155					20																	5294782		2203	4300	6503	SO:0001819	synonymous_variant	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.234C>T	20.37:g.5294782G>A			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L78	ENST00000217270.3	37	c.234	CCDS13089.1	20																																																																																			PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	G	NM_144773		5294782	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	silent	SNP	0.193	A	A	5294782	G	A	5294782	2	1	9	1	0	0	0	0	0	0	0	1	12580	1277	45	1		1	PROKR2	20	5294782	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		5294782	57730738	163	991										
NCOA3	8202	genome.wustl.edu	37	chr20	46265142	46265142	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tggaggagtatcctctacatCcaatatgcatgggtcactgt	10	9	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:46265142C>G	ENST00000371998.3	+	12	2203	c.2012C>G	c.(2011-2013)tCc>tGc	p.S671C	NCOA3_ENST00000372004.3_Missense_Mutation_p.S671C|NCOA3_ENST00000371997.3_Missense_Mutation_p.S681C|NCOA3_ENST00000341724.6_Missense_Mutation_p.S681C			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	671	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCTCTACATCCAATATGCAT	0.473																																																	0													80	78	78					20																	46265142		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2012C>G	20.37:g.46265142C>G	ENSP00000361066:p.Ser671Cys		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.S671C	ENST00000371998.3	37	c.2012	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007671	0.54361	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.6	5.6	0.85130	Steroid receptor coactivator (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.57536	1.79	0.58432	D	0.999998	B;D;B;B;P;B	0.76494	0.236;0.999;0.417;0.417;0.562;0.417	B;D;B;B;B;B	0.68353	0.261;0.957;0.444;0.444;0.316;0.444	T	0.65220	-0.6221	10	0.37606	T	0.19	-15.4548	19.9698	0.97280	0.0:1.0:0.0:0.0	.	671;681;675;671;671;671	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	C	671;681;671;671;681	ENSP00000342123:S681C;ENSP00000361073:S671C;ENSP00000361066:S671C;ENSP00000361065:S681C	ENSP00000345671:S671C	S	+	2	0	NCOA3	45698549	1.000000	0.71417	0.990000	0.47175	0.853000	0.48598	3.998000	0.57024	2.786000	0.95864	0.561000	0.74099	TCC	NCOA3	-	pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	C	NM_006534		46265142	1	no_errors	ENST00000371998	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46265142	C	G	46265142	3	3	9	1	0	0	0	0	1	0	0	0	10254	855	30	1	2080	1	NCOA3	20	46265142	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	40970360	46265142	16760378	164	992										
KCNB1	3745	genome.wustl.edu	37	chr20	47989992	47989992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccagtccagcgacagcagccGcagcactcccccggttcctg	10	19	0	0	rs144379782		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr20:47989992G>A	ENST00000371741.4	-	2	2271	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	702	Poly-Ala.				energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GACAGCAGCCGCAGCACTCCC	0.592																																																	0													34	35	34					20																	47989992		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2105C>T	20.37:g.47989992G>A	ENSP00000360806:p.Ala702Val		Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.A702V	ENST00000371741.4	37	c.2105	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	G	3.140	-0.176561	0.06380	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.22539	1.95	4.77	4.77	0.60923	.	1.437530	0.03974	N	0.292181	T	0.11537	0.0281	N	0.08118	0	0.35798	D	0.822955	P	0.40431	0.717	B	0.24269	0.052	T	0.24512	-1.0158	10	0.30078	T	0.28	.	14.0209	0.64555	0.0:0.0:1.0:0.0	.	702	Q14721	KCNB1_HUMAN	V	702;657	ENSP00000360806:A702V	ENSP00000360806:A702V	A	-	2	0	KCNB1	47423399	0.997000	0.39634	0.852000	0.33557	0.269000	0.26545	4.223000	0.58587	2.578000	0.87016	0.655000	0.94253	GCG	KCNB1	-	pfam_K_chnl_volt-dep_Kv2		0.592	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	G	NM_004975		47989992	-1	no_errors	ENST00000371741	ensembl	human	known	70_37	missense	SNP	0.910	A	A	47989992	G	A	47989992	3	1	9	1	0	0	0	0	1	0	0	0	8032	1087	38	2	475	2	KCNB1	20	47989992	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1724850	47989992	15035528	165	993										
MORC3	23515	genome.wustl.edu	37	chr21	37741397	37741397	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gatgatgatgatgaagatgtCatcatcttagaagaaaacag	10	4	3	7			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr21:37741397C>T	ENST00000400485.1	+	15	1807	c.1731C>T	c.(1729-1731)gtC>gtT	p.V577V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	577					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATGAAGATGTCATCATCTTAG	0.383																																																	0													159	148	152					21																	37741397		2023	4177	6200	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1731C>T	21.37:g.37741397C>T			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.V577	ENST00000400485.1	37	c.1731	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.383	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37741397	1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.998	T	T	37741397	C	T	37741397	2	4	9	1	0	0	0	0	0	0	0	1	9726	813	29	1		1	MORC3	21	37741397	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		37741397	10388498	166	994										
MORC3	23515	genome.wustl.edu	37	chr21	37741838	37741838	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	catatgtttactgatcaaatCaaagtgttacaacagaggat	7	6	2	2			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr21:37741838C>T	ENST00000400485.1	+	15	2248	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	724					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTGATCAAATCAAAGTGTTAC	0.358																																																	0													88	80	82					21																	37741838		1864	4103	5967	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2172C>T	21.37:g.37741838C>T			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.I724	ENST00000400485.1	37	c.2172	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.358	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37741838	1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.020	T	T	37741838	C	T	37741838	2	4	9	1	0	0	0	0	0	0	0	1	9726	816	29	1		1	MORC3	21	37741838	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	441	37741838	10388057	167	995										
PCBP3	54039	genome.wustl.edu	37	chr21	47337528	47337528	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	acaatccagggacagtatgcCatccctcacccggatgtgag	10	13	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr21:47337528C>A	ENST00000400314.1	+	11	1040	c.702C>A	c.(700-702)gcC>gcA	p.A234A	PCBP3_ENST00000400309.1_Silent_p.A234A|PCBP3_ENST00000400304.1_Silent_p.A225A|PCBP3_ENST00000400310.1_Silent_p.A234A|PCBP3_ENST00000400308.1_Silent_p.A209A|PCBP3_ENST00000449640.1_Silent_p.A234A			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	234					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GACAGTATGCCATCCCTCACC	0.542																																																	0													254	274	268					21																	47337528		2084	4210	6294	SO:0001819	synonymous_variant	54039			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.702C>A	21.37:g.47337528C>A			A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.A234	ENST00000400314.1	37	c.702	CCDS42974.2	21																																																																																			PCBP3	-	NULL		0.542	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	C			47337528	1	no_errors	ENST00000400314	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47337528	C	A	47337528	2	1	9	1	0	0	0	0	0	0	0	1	11526	581	21	4		4	PCBP3	21	47337528	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	9595690	47337528	792367	168	996										
IGLL5	100423062	genome.wustl.edu	37	chr22	23237847	23237847	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gaagggagcaccgtggagaaGacagtggcccctacagaatg	15	9	0	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr22:23237847G>T	ENST00000526893.1	+	3	892	c.618G>T	c.(616-618)aaG>aaT	p.K206N	IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000532223.2_Missense_Mutation_p.K207N|IGLJ1_ENST00000390320.2_RNA|IGLC1_ENST00000390321.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	206	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCGTGGAGAAGACAGTGGCCC	0.617																																																	0													59	63	62					22																	23237847		2202	4294	6496	SO:0001583	missense	100423062			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.618G>T	22.37:g.23237847G>T	ENSP00000431254:p.Lys206Asn			Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.K207N	ENST00000526893.1	37	c.621	CCDS54506.1	22	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050236	0.55218	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00617	6.19;6.19	4.2	4.2	0.49525	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05686	0.0149	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01356	-1.1376	9	0.87932	D	0	.	14.3687	0.66823	0.0:0.0:1.0:0.0	.	206	B9A064	IGLL5_HUMAN	N	207;206	ENSP00000436353:K207N;ENSP00000431254:K206N	ENSP00000431254:K206N	K	+	3	2	IGLL5	21567847	0.998000	0.40836	0.575000	0.28536	0.509000	0.34042	3.056000	0.49923	2.284000	0.76573	0.650000	0.86243	AAG	IGLL5	-	pfscan_Ig-like		0.617	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	IGLL5	HGNC	protein_coding	OTTHUMT00000385699.1	G	NM_001178126		23237847	1	no_errors	ENST00000532223	ensembl	human	known	70_37	missense	SNP	0.885	T	T	23237847	G	T	23237847	3	4	9	1	0	0	0	0	1	0	0	0	7614	933	33	3	628	3	IGLL5	22	23237847	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08		23237847	28066719	169	997										
ATF4	468	genome.wustl.edu	37	chr22	39917809	39917809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tccgggacagattggatgttGgagaaaatggatttgaagga	15	3	0	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chr22:39917809G>A	ENST00000337304.2	+	2	1140	c.258G>A	c.(256-258)ttG>ttA	p.L86L	ATF4_ENST00000404241.2_Silent_p.L86L|ATF4_ENST00000396680.1_Silent_p.L86L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	86					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	ATTGGATGTTGGAGAAAATGG	0.488																																																	0													121	123	122					22																	39917809		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.258G>A	22.37:g.39917809G>A			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L86	ENST00000337304.2	37	c.258	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.488	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	G	NM_001675		39917809	1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39917809	G	A	39917809	2	1	9	1	0	0	0	0	0	0	0	1	1083	1339	47	4		4	ATF4	22	39917809	Silent	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	16679962	39917809	11386757	170	998										
MXRA5	25878	genome.wustl.edu	37	chrX	3238287	3238287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gttataaaggagatagaactCtgggtggaagagaccatagg	14	4	1	3			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:3238287C>G	ENST00000217939.6	-	5	5593	c.5439G>C	c.(5437-5439)caG>caC	p.Q1813H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1813						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGATAGAACTCTGGGTGGAAG	0.507																																																	0													79	78	78					X																	3238287		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5439G>C	X.37:g.3238287C>G	ENSP00000217939:p.Gln1813His		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q1813H	ENST00000217939.6	37	c.5439	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	1.597	-0.527521	0.04141	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.53	0.239	0.15484	.	0.508110	0.14493	U	0.316214	T	0.32823	0.0842	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.11717	-1.0576	10	0.38643	T	0.18	.	1.5578	0.02588	0.1611:0.3439:0.3104:0.1846	.	1813	Q9NR99	MXRA5_HUMAN	H	1813	ENSP00000217939:Q1813H	ENSP00000217939:Q1813H	Q	-	3	2	MXRA5	3248287	0.001000	0.12720	0.036000	0.18154	0.027000	0.11550	-0.307000	0.08167	-0.028000	0.13850	0.464000	0.42555	CAG	MXRA5	-	NULL		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3238287	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.010	G	G	3238287	C	G	3238287	3	3	9	1	0	0	0	0	1	0	0	0	10026	912	32	1	3059	1	MXRA5	23	3238287	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08		3238287	152032273	171	999										
WWC3	55841	genome.wustl.edu	37	chrX	10106899	10106899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ggttggaggacgcccagctcCgtggccagactgacctccca	13	15	0	2	rs150439410		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:10106899C>T	ENST00000380861.4	+	21	3398	c.3007C>T	c.(3007-3009)Cgt>Tgt	p.R1003C	WWC3_ENST00000454666.1_Missense_Mutation_p.R1003C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1003					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCCCAGCTCCGTGGCCAGAC	0.706																																																	0													25	23	23					X																	10106899		2203	4295	6498	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3007C>T	X.37:g.10106899C>T	ENSP00000370242:p.Arg1003Cys		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R1003C	ENST00000380861.4	37	c.3007	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912622	0.52439	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.44881	0.91;0.91	4.8	4.8	0.61643	.	0.126422	0.51477	D	0.000081	T	0.59432	0.2193	M	0.70275	2.135	0.49483	D	0.999791	D	0.76494	0.999	D	0.64042	0.921	T	0.60306	-0.7289	9	.	.	.	-4.6092	13.0397	0.58891	0.2403:0.7597:0.0:0.0	.	1003	Q9ULE0	WWC3_HUMAN	C	1003;1003;498	ENSP00000370242:R1003C;ENSP00000399584:R1003C	.	R	+	1	0	WWC3	10066899	0.999000	0.42202	0.865000	0.33974	0.339000	0.28857	2.461000	0.45040	2.370000	0.80446	0.529000	0.55759	CGT	WWC3	-	NULL		0.706	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	C	NM_015691		10106899	1	no_errors	ENST00000380861	ensembl	human	known	70_37	missense	SNP	0.727	T	T	10106899	C	T	10106899	3	4	9	1	0	0	0	0	1	0	0	0	17444	652	23	2	3085	2	WWC3	23	10106899	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	6868612	10106899	145163661	172	1000										
ARHGAP6	395	genome.wustl.edu	37	chrX	11157630	11157630	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cgctcttagggagctgctttCaaaaatgtctccagaggaac	10	10	3	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:11157630C>T	ENST00000337414.4	-	13	3150	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E557K|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E557K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	760					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAGCTGCTTTCAAAAATGTCT	0.532																																																	0													10	12	11					X																	11157630		2063	4009	6072	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2278G>A	X.37:g.11157630C>T	ENSP00000338967:p.Glu760Lys		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E760K	ENST00000337414.4	37	c.2278	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621396	0.66787	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.26067	1.8;1.8;1.76	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000035	T	0.29749	0.0743	M	0.67953	2.075	0.80722	D	1	B;B	0.32071	0.355;0.214	B;B	0.24974	0.057;0.031	T	0.11227	-1.0596	10	0.49607	T	0.09	.	17.547	0.87865	0.0:1.0:0.0:0.0	.	760;760	O43182;A8KAL3	RHG06_HUMAN;.	K	557;557;760	ENSP00000370112:E557K;ENSP00000302312:E557K;ENSP00000338967:E760K	ENSP00000302312:E557K	E	-	1	0	ARHGAP6	11067551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.429000	0.73387	2.071000	0.62044	0.594000	0.82650	GAA	ARHGAP6	-	NULL		0.532	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11157630	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11157630	C	T	11157630	3	4	9	1	0	0	0	0	1	0	0	0	887	835	29	1	650	1	ARHGAP6	23	11157630	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	1050731	11157630	144112930	173	1001										
MAP7D2	256714	genome.wustl.edu	37	chrX	20033420	20033420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gcatctgttcagctacctccCgggcctttgtttctgctgct	9	14	3	0	rs202062315		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:20033420C>A	ENST00000379651.3	-	11	1565	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	MAP7D2_ENST00000379643.5_Missense_Mutation_p.R557L|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R401L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R464L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R471L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	516					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGCTACCTCCCGGGCCTTTGT	0.463																																																	0													142	113	123					X																	20033420		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1547G>T	X.37:g.20033420C>A	ENSP00000368972:p.Arg516Leu		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.R557L	ENST00000379651.3	37	c.1670	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767862	0.49680	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.73	0.695	0.18070	.	0.271361	0.31145	N	0.008170	T	0.33876	0.0878	M	0.69823	2.125	0.33801	D	0.626667	P;P;P;P;P	0.44946	0.846;0.712;0.815;0.846;0.815	B;B;B;B;B	0.39904	0.313;0.209;0.209;0.313;0.209	T	0.50329	-0.8841	10	0.48119	T	0.1	-4.8215	9.8503	0.41053	0.0:0.7278:0.0:0.2722	.	471;464;557;516;401	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	516;557;401;471;199;464	ENSP00000368972:R516L;ENSP00000368964:R557L;ENSP00000440691:R401L;ENSP00000388239:R471L;ENSP00000413301:R464L	ENSP00000368964:R557L	R	-	2	0	MAP7D2	19943341	1.000000	0.71417	0.984000	0.44739	0.073000	0.16967	1.348000	0.33987	0.017000	0.15025	-0.924000	0.02725	CGG	MAP7D2	-	pfam_E-MAP-115		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20033420	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20033420	C	A	20033420	3	1	9	1	0	0	0	0	1	0	0	0	9291	652	23	2	671	2	MAP7D2	23	20033420	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	8875790	20033420	135237140	174	1002										
PHF8	23133	genome.wustl.edu	37	chrX	54022200	54022200	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	tgtctccgggatctcatcctCatggtctggcagagcctgtc	11	13	4	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:54022200C>T	ENST00000357988.5	-	12	1715	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	PHF8_ENST00000322659.8_Missense_Mutation_p.E417K|PHF8_ENST00000338946.6_Missense_Mutation_p.E417K|PHF8_ENST00000338154.6_Missense_Mutation_p.E417K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	453					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATCTCATCCTCATGGTCTGGC	0.493																																																	0													84	61	69					X																	54022200		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1357G>A	X.37:g.54022200C>T	ENSP00000350676:p.Glu453Lys		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E453K	ENST00000357988.5	37	c.1357	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405965|2.405965	0.42715|0.42715	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282;ENST00000448003	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51193|0.51193	0.1660|0.1660	N|N	0.16266|0.16266	0.395|0.395	0.50313|0.50313	D|D	0.999862|0.999862	P;P;P;B|.	0.52316|.	0.897;0.919;0.952;0.107|.	B;B;P;B|.	0.44359|.	0.365;0.261;0.447;0.021|.	T|T	0.47560|0.47560	-0.9108|-0.9108	10|5	0.16896|.	T|.	0.51|.	-15.2321|-15.2321	17.2714|17.2714	0.87103|0.87103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	417;417;453;453|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	K|I	453;417;417;447;417|320;97	ENSP00000350676:E453K;ENSP00000338868:E417K;ENSP00000340051:E417K;ENSP00000319473:E417K|.	ENSP00000319473:E417K|.	E|M	-|-	1|3	0|0	PHF8|PHF8	54038925|54038925	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.972000|0.972000	0.66771|0.66771	5.358000|5.358000	0.66064|0.66064	2.346000|2.346000	0.79739|0.79739	0.544000|0.544000	0.68410|0.68410	GAG|ATG	PHF8	-	NULL		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	C	NM_015107		54022200	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54022200	C	T	54022200	3	4	9	1	0	0	0	0	1	0	0	0	11864	835	29	1	2039	1	PHF8	23	54022200	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	33988780	54022200	101248360	175	1003										
NLGN3	54413	genome.wustl.edu	37	chrX	70367612	70367613	+	Frame_Shift_Ins	INS	-	-	T													0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	ccggaacatgtggctgcggcINSttggcccgccctcgctgtcc							TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:70367612_70367613insT	ENST00000358741.3	+	2	316_317	c.13_14insT	c.(13-15)cttfs	p.L5fs	NLGN3_ENST00000374051.3_Frame_Shift_Ins_p.L5fs|NLGN3_ENST00000536169.1_Frame_Shift_Ins_p.L5fs	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	5					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTGGCTGCGGCTTGGCCCGCCC	0.653																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001589	frameshift_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.15dupT	X.37:g.70367614_70367614dupT	ENSP00000351591:p.Leu5fs		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G6fs	ENST00000358741.3	37	c.13_14	CCDS55441.1	X																																																																																			NLGN3	-	NULL		0.653	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	NM_018977		70367613	1	no_errors	ENST00000358741	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:0.999	T	T	70367613	-	T	70367612	7	5	9	1	0	1	1	0	0	0	0	0	10487	797	28	0	15	0	NLGN3	23	70367612	Frame_Shift_Ins	INS	-	TCGA-C5-A1BK-01B-11D-A13W-08	16345412	70367612	84902948	176	1004										
RPS4X	6191	genome.wustl.edu	37	chrX	71495568	71495568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gtggggaccggtggatggacGaggagcctgtaacgttaaaa	17	6	0	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:71495568G>A	ENST00000316084.6	-	3	192	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	RPS4X_ENST00000486733.1_5'UTR|RPS4X_ENST00000373626.3_Missense_Mutation_p.R30C	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GTGGATGGACGAGGAGCCTGT	0.463																																																	0													35	31	33					X																	71495568		2202	4300	6502	SO:0001583	missense	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"S ribosomal proteins"	10424	protein-coding gene	gene with protein product	"40S ribosomal protein S4, X isoform", "ribosomal protein S4X isoform", "single-copy abundant mRNA", "cell cycle gene 2"	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.88C>T	X.37:g.71495568G>A	ENSP00000362744:p.Arg30Cys		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.R30C	ENST00000316084.6	37	c.88	CCDS14418.1	X	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250480	0.59212	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.88	3.96	0.45880	Ribosomal protein S4e, N-terminal (1);	0.069408	0.64402	D	0.000020	T	0.55257	0.1909	M	0.84326	2.69	0.80722	D	1	P;B	0.46395	0.877;0.437	B;B	0.34931	0.192;0.138	T	0.67142	-0.5745	9	0.62326	D	0.03	.	11.8342	0.52314	0.0:0.0:0.8255:0.1745	.	30;30	B7Z1M6;P62701	.;RS4X_HUMAN	C	30	.	ENSP00000362744:R30C	R	-	1	0	RPS4X	71412293	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.614000	0.82996	2.143000	0.66587	0.594000	0.82650	CGT	RPS4X	-	pfam_Ribosomal_S4e_N,pirsf_Ribosomal_S4e		0.463	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	G	NM_001007		71495568	-1	no_errors	ENST00000316084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71495568	G	A	71495568	3	1	9	1	0	0	0	0	1	0	0	0	13675	1058	37	1	723	1	RPS4X	23	71495568	Missense_Mutation	SNP	G	TCGA-C5-A1BK-01B-11D-A13W-08	1127956	71495568	83774992	177	1005										
COL4A5	1287	genome.wustl.edu	37	chrX	107683385	107683385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cgtggagtcagcctggctgcCggcttgttcttactggccct	13	13	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:107683385C>T	ENST00000361603.2	+	1	274	c.30C>T	c.(28-30)gcC>gcT	p.A10A	COL4A6_ENST00000334504.7_5'Flank|COL4A6_ENST00000545689.1_5'Flank|COL4A6_ENST00000372216.4_5'Flank|COL4A6_ENST00000461897.1_5'Flank|COL4A6_ENST00000538570.1_5'Flank|COL4A5_ENST00000328300.6_Silent_p.A10A|COL4A5_ENST00000477429.1_3'UTR|COL4A6_ENST00000394872.2_5'Flank	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	10					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCTGGCTGCCGGCTTGTTCT	0.607									Alport syndrome with Diffuse Leiomyomatosis																																								0													53	42	46					X																	107683385		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.30C>T	X.37:g.107683385C>T			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.A10	ENST00000361603.2	37	c.30	CCDS14543.1	X																																																																																			COL4A5	-	NULL		0.607	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	C			107683385	1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107683385	C	T	107683385	2	4	9	1	0	0	0	0	0	0	0	1	3699	639	23	2		2	COL4A5	23	107683385	Silent	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	36187817	107683385	47587175	178	1006										
IL13RA2	3598	genome.wustl.edu	37	chrX	114245323	114245323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	cctccaaatagggaaatctgCatcctatattttgtccatca	5	11	2	0			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:114245323C>T	ENST00000371936.1	-	7	839	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	IL13RA2_ENST00000243213.1_Missense_Mutation_p.C197Y			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GGGAAATCTGCATCCTATATT	0.358																																																	0													107	97	101					X																	114245323		2203	4299	6502	SO:0001583	missense	3598			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.590G>A	X.37:g.114245323C>T	ENSP00000361004:p.Cys197Tyr		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.C197Y	ENST00000371936.1	37	c.590	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487428	0.63962	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.99961	-9.31;-9.31	5.29	5.29	0.74685	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99964	0.9986	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95378	0.8470	10	0.87932	D	0	-13.4836	12.9359	0.58313	0.0:1.0:0.0:0.0	.	197;197	D0EFR8;Q14627	.;I13R2_HUMAN	Y	197	ENSP00000361004:C197Y;ENSP00000243213:C197Y	ENSP00000243213:C197Y	C	-	2	0	IL13RA2	114151579	1.000000	0.71417	0.990000	0.47175	0.951000	0.60555	4.551000	0.60740	2.452000	0.82932	0.544000	0.68410	TGC	IL13RA2	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.358	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	C	NM_000640		114245323	-1	no_errors	ENST00000243213	ensembl	human	known	70_37	missense	SNP	0.991	T	T	114245323	C	T	114245323	3	4	9	1	0	0	0	0	1	0	0	0	7650	710	25	4	572	4	IL13RA2	23	114245323	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	6561938	114245323	41025237	179	1007										
MAGEC1	9947	genome.wustl.edu	37	chrX	140994898	140994898	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	actttcctcagagccctcctCagggggaggactccctgtct	10	15	3	1	rs370254815		TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:140994898C>T	ENST00000285879.4	+	4	1994	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	570										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCCTCAGGGGGAGGA	0.597										HNSCC(15;0.026)																																							0													233	253	246					X																	140994898		2203	4300	6503	SO:0001587	stop_gained	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1708C>T	X.37:g.140994898C>T	ENSP00000285879:p.Gln570*		A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q570*	ENST00000285879.4	37	c.1708	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	22.2	4.263975	0.80358	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.92	-1.84	0.07809	.	.	.	.	.	.	.	.	.	.	.	0.23607	N	0.997309	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.1643	0.25681	0.0:0.515:0.485:0.0	.	.	.	.	X	570	.	ENSP00000285879:Q570X	Q	+	1	0	MAGEC1	140822564	0.017000	0.18338	0.003000	0.11579	0.003000	0.03518	0.130000	0.15850	-1.365000	0.02158	-1.355000	0.01225	CAG	MAGEC1	-	NULL		0.597	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140994898	1	no_errors	ENST00000285879	ensembl	human	known	70_37	nonsense	SNP	0.336	T	T	140994898	C	T	140994898	4	4	9	1	0	0	0	0	0	1	0	0	9203	827	29	1	1714	1	MAGEC1	23	140994898	Nonsense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	26749575	140994898	14275662	180	1008										
IRAK1	3654	genome.wustl.edu	37	chrX	153282519	153282519	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	agaggtgggcaggcctgggtCtggggtggcaaagggggaca	22	6	1	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:153282519C>T	ENST00000369980.3	-	8	1077		c.e8-1		IRAK1_ENST00000477274.1_Splice_Site|IRAK1_ENST00000429936.2_Splice_Site|IRAK1_ENST00000393682.1_Splice_Site|IRAK1_ENST00000393687.2_Splice_Site|IRAK1_ENST00000369974.2_Splice_Site|MIR718_ENST00000390190.2_RNA	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTGGGTCTGGGGTGGCA	0.607																																																	0													62	66	65					X																	153282519		2203	4300	6503	SO:0001630	splice_region_variant	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.910-1G>A	X.37:g.153282519C>T			D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Splice_Site	SNP	-	e8-1	ENST00000369980.3	37	c.910-1	CCDS14740.1	X	.	.	.	.	.	.	.	.	.	.	.	7.477	0.647872	0.14516	.	.	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936;ENST00000443220	.	.	.	4.83	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3543	0.26711	0.3161:0.5263:0.1576:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRAK1	152935713	0.040000	0.19996	0.018000	0.16275	0.583000	0.36354	1.647000	0.37260	0.818000	0.34468	-0.353000	0.07706	.	IRAK1	-	-		0.607	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	C		Intron	153282519	-1	no_errors	ENST00000369980	ensembl	human	known	70_37	splice_site	SNP	0.004	T	T	153282519	C	T	153282519	5	4	9	1	0	0	0	0	0	0	1	0	7841	927	32	1	1257	1	IRAK1	23	153282519	Splice_Site	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	12287621	153282519	1988041	181	1009										
FLNA	2316	genome.wustl.edu	37	chrX	153580315	153580315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.456043956043956	83	3.51378746051876e-26	3.55369357429268	5.03741827792461	2.84586160558754	0.371935396722005	0.611487008170076	60	gcggtcctcaaaagagatctCagccttgctggggccctcga	12	13	2	1			TCGA-C5-A1BK-01B-11D-A13W-08	TCGA-C5-A1BK-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d43e632-5604-499e-b014-43c85681529a	b0555c04-f588-49fa-938b-7b031157e11b	g.chrX:153580315C>T	ENST00000369850.3	-	42	7080	c.6844G>A	c.(6844-6846)Gag>Aag	p.E2282K	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.E2274K|FLNA_ENST00000422373.1_Missense_Mutation_p.E2274K|FLNA_ENST00000344736.4_Missense_Mutation_p.E2242K|FLNA_ENST00000369856.3_Missense_Mutation_p.E415K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2282					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGAGATCTCAGCCTTGCTG	0.612																																																	0													53	56	55					X																	153580315		1956	4153	6109	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6844G>A	X.37:g.153580315C>T	ENSP00000358866:p.Glu2282Lys		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E2282K	ENST00000369850.3	37	c.6844	CCDS48194.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|C	17.27|17.27	3.347007|3.347007	0.61183|0.61183	.|.	.|.	ENSG00000196924|ENSG00000196924	ENST00000369852|ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	.|D;D;D;D;D;D	.|0.92199	.|-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.19|5.19	4.32|4.32	0.51571|0.51571	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94178	.|0.8132	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999996|0.999996	.|D;P;P;P	.|0.65815	.|0.995;0.545;0.615;0.615	.|D;B;P;P	.|0.71184	.|0.972;0.264;0.462;0.462	.|D	.|0.94171	.|0.7423	.|10	.|0.72032	.|D	.|0.01	.|.	13.9741|13.9741	0.64259|0.64259	0.153:0.847:0.0:0.0|0.153:0.847:0.0:0.0	.|.	.|415;2274;2282;2282	.|E9PHF0;P21333-2;P21333;E9KL45	.|.;.;FLNA_HUMAN;.	.|K	-1|2274;2274;2282;415;2242;222	.|ENSP00000353467:E2274K;ENSP00000416926:E2274K;ENSP00000358866:E2282K;ENSP00000358872:E415K;ENSP00000358863:E2242K;ENSP00000397824:E222K	.|ENSP00000358863:E2242K	.|E	-|-	.|1	.|0	FLNA|FLNA	153233509|153233509	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.905000|0.905000	0.53344|0.53344	7.759000|7.759000	0.85235|0.85235	0.960000|0.960000	0.38005|0.38005	0.529000|0.529000	0.55759|0.55759	.|GAG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153580315	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153580315	C	T	153580315	3	4	9	1	0	0	0	0	1	0	0	0	5951	835	29	1	1127	1	FLNA	23	153580315	Missense_Mutation	SNP	C	TCGA-C5-A1BK-01B-11D-A13W-08	297796	153580315	1690245	182	1010										
ARHGEF19	128272	genome.wustl.edu	37	chr1	16534513	16534513	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccgccccaggcgcagagaaGagtgcagccgggtcatcagc	14	14	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:16534513G>C	ENST00000270747.3	-	3	756	c.620C>G	c.(619-621)tCt>tGt	p.S207C	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	207					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCAGAGAAGAGTGCAGCCG	0.667																																																	0													35	39	38					1																	16534513		2203	4299	6502	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.620C>G	1.37:g.16534513G>C	ENSP00000270747:p.Ser207Cys		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S207C	ENST00000270747.3	37	c.620	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375961	0.82682	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.53640	0.61;0.61	4.96	4.03	0.46877	.	0.279728	0.28659	N	0.014572	T	0.35189	0.0923	L	0.40543	1.245	0.28058	N	0.933095	P	0.50710	0.938	B	0.40101	0.319	T	0.39251	-0.9623	10	0.54805	T	0.06	.	8.5731	0.33581	0.1048:0.0:0.8952:0.0	.	207	Q8IW93	ARHGJ_HUMAN	C	207	ENSP00000270747:S207C;ENSP00000396001:S207C	ENSP00000270747:S207C	S	-	2	0	ARHGEF19	16407100	1.000000	0.71417	0.986000	0.45419	0.913000	0.54294	3.803000	0.55560	2.443000	0.82685	0.561000	0.74099	TCT	ARHGEF19	-	NULL		0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16534513	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	missense	SNP	0.992	C	C	16534513	G	C	16534513	3	2	10	1	0	0	0	0	1	0	0	0	902	942	33	1	1844	1	ARHGEF19	1	16534513	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		16534513	232716108	1	1011										
ARHGEF19	128272	genome.wustl.edu	37	chr1	16534646	16534646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctgctcttgcactacctggcCaggctctaggaagacagcgt	11	13	2	1	rs221058	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:16534646C>A	ENST00000270747.3	-	3	623	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	163			G -> R (in dbSNP:rs221058). {ECO:0000269|PubMed:14702039}.		regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACCTGGCCAGGCTCTAGG	0.657																																																	0													56	61	59					1																	16534646		2203	4300	6503	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.487G>T	1.37:g.16534646C>A	ENSP00000270747:p.Gly163Cys		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G163C	ENST00000270747.3	37	c.487	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377929	0.42105	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.52057	0.68;0.68	5.21	2.13	0.27403	.	1.238380	0.05817	N	0.615075	T	0.43344	0.1243	L	0.32530	0.975	0.44085	P	0.003159000000000023	D	0.53151	0.958	P	0.46718	0.525	T	0.37842	-0.9688	9	0.72032	D	0.01	.	6.6718	0.23072	0.0:0.6669:0.0:0.3331	.	163	Q8IW93	ARHGJ_HUMAN	C	163	ENSP00000270747:G163C;ENSP00000396001:G163C	ENSP00000270747:G163C	G	-	1	0	ARHGEF19	16407233	0.296000	0.24398	0.967000	0.41034	0.118000	0.20060	0.673000	0.25203	0.220000	0.20860	0.561000	0.74099	GGC	ARHGEF19	-	NULL		0.657	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	C	NM_153213		16534646	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	missense	SNP	0.549	A	A	16534646	C	A	16534646	3	1	10	1	0	0	0	0	1	0	0	0	902	594	21	4	1977	4	ARHGEF19	1	16534646	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	133	16534646	232715975	2	1012										
ARHGEF10L	55160	genome.wustl.edu	37	chr1	17964493	17964493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcagcacgctgcacggcaccTaccaggtacgtggcctggcc	12	16	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:17964493T>C	ENST00000361221.3	+	19	2197	c.2038T>C	c.(2038-2040)Tac>Cac	p.Y680H	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.Y383H|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.Y675H|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.Y641H|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.Y453H|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.Y438H|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.Y641H|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	680						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCACGGCACCTACCAGGTACG	0.642																																																	0													53	37	42					1																	17964493		2200	4299	6499	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2038T>C	1.37:g.17964493T>C	ENSP00000355060:p.Tyr680His		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.Y680H	ENST00000361221.3	37	c.2038	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519620	0.85495	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;D;T;T	0.81499	-0.73;-0.52;-0.88;-0.52;-1.5;-0.95;0.4	5.35	5.35	0.76521	.	0.127554	0.53938	D	0.000042	D	0.88658	0.6496	M	0.78456	2.415	0.51233	D	0.999911	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D	0.87947	0.2721	10	0.35671	T	0.21	-23.1135	13.281	0.60214	0.0:0.0:0.0:1.0	.	453;438;675;383;441;636;641;680	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	H	680;641;675;641;438;453;453;383	ENSP00000355060:Y680H;ENSP00000399401:Y641H;ENSP00000394621:Y675H;ENSP00000364564:Y641H;ENSP00000364569:Y438H;ENSP00000364557:Y453H;ENSP00000167825:Y383H	ENSP00000167825:Y383H	Y	+	1	0	ARHGEF10L	17837080	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.884000	0.75600	2.030000	0.59900	0.460000	0.39030	TAC	ARHGEF10L	-	NULL		0.642	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	T	NM_018125		17964493	1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17964493	T	C	17964493	3	2	10	1	0	0	0	0	1	0	0	0	895	1522	53	5	2108	5	ARHGEF10L	1	17964493	Missense_Mutation	SNP	T	TCGA-C5-A1BL-01A-11D-A13W-08	1429847	17964493	231286128	3	1013										
USP48	84196	genome.wustl.edu	37	chr1	22032632	22032632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttctacctaacaaatttccGccactcttctacaaagaact	2	13	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:22032632G>A	ENST00000308271.9	-	18	2908	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	USP48_ENST00000374732.3_Missense_Mutation_p.R292W|USP48_ENST00000400301.1_Missense_Mutation_p.R754W|USP48_ENST00000529637.1_Missense_Mutation_p.R766W	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	754	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ACAAATTTCCGCCACTCTTCT	0.358																																																	0													88	87	87					1																	22032632		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2260C>T	1.37:g.22032632G>A	ENSP00000309262:p.Arg754Trp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.R754W	ENST00000308271.9	37	c.2260	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076979	0.76415	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.08984	3.08;3.03;3.11	5.94	1.23	0.21249	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.089231	0.85682	D	0.000000	T	0.25644	0.0624	M	0.71581	2.175	0.50171	D	0.999854	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;P;D;P;D	0.72338	0.92;0.855;0.95;0.857;0.977	T	0.14035	-1.0487	10	0.87932	D	0	.	14.8846	0.70557	0.0:0.0:0.3446:0.6554	.	766;754;754;754;292	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	W	754;754;292;766	ENSP00000383157:R754W;ENSP00000309262:R754W;ENSP00000431949:R766W	ENSP00000309262:R754W	R	-	1	2	USP48	21905219	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.495000	0.45337	0.689000	0.31550	0.557000	0.71058	CGG	USP48	-	NULL		0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	G	NM_032236		22032632	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22032632	G	A	22032632	3	1	10	1	0	0	0	0	1	0	0	0	17110	1086	38	2	887	2	USP48	1	22032632	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	4068139	22032632	227217989	4	1014										
C1orf128	57095	genome.wustl.edu	37	chr1	24112168	24112168	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttcctttcctttctcaggtaCaagaatattccacagatgtc	5	11	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:24112168C>G	ENST00000246151.4	+	4	435	c.324C>G	c.(322-324)taC>taG	p.Y108*	PITHD1_ENST00000374524.1_5'UTR	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	108	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TTCTCAGGTACAAGAATATTC	0.378																																																	0													73	70	71					1																	24112168		2203	4300	6503	SO:0001587	stop_gained	57095				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"TXNL1 C-terminal like"		"chromosome 1 open reading frame 128"	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.324C>G	1.37:g.24112168C>G	ENSP00000246151:p.Tyr108*		B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Nonsense_Mutation	SNP	pfam_PITH_dom,superfamily_Galactose-bd-like	p.Y108*	ENST00000246151.4	37	c.324	CCDS240.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.233960	0.95207	.	.	ENSG00000057757	ENST00000246151;ENST00000415372	.	.	.	5.81	2.84	0.33178	.	0.154295	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-1.4388	8.225	0.31564	0.0:0.5967:0.0:0.4033	.	.	.	.	X	108;15	.	ENSP00000246151:Y108X	Y	+	3	2	PITHD1	23984755	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.535000	0.45685	0.341000	0.23771	0.655000	0.94253	TAC	PITHD1	-	pfam_PITH_dom,superfamily_Galactose-bd-like		0.378	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITHD1	HGNC	protein_coding	OTTHUMT00000008243.1	C	NM_020362		24112168	1	no_errors	ENST00000246151	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	24112168	C	G	24112168	4	3	10	1	0	0	0	0	0	1	0	0	2000	489	17	4	338	4	C1orf128	1	24112168	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	2079536	24112168	225138453	5	1015										
MYOM3	127294	genome.wustl.edu	37	chr1	24413279	24413279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggggatctcacagggctttcCgagctgatggcctcccaggt	14	12	1	1	rs376623497		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:24413279C>T	ENST00000374434.3	-	15	1815	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	MYOM3_ENST00000329601.7_Silent_p.S551S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.S552S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	551	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAGGGCTTTCCGAGCTGATGG	0.552																																																	0								C		0,3998		0,0,1999	83	85	84		1653	-11.4	0	1		84	3,8319		0,3,4158	no	coding-synonymous	MYOM3	NM_152372.3		0,3,6157	TT,TC,CC		0.036,0.0,0.0244		551/1438	24413279	3,12317	1999	4161	6160	SO:0001819	synonymous_variant	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1653G>A	1.37:g.24413279C>T			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S552	ENST00000374434.3	37	c.1656	CCDS41281.1	1																																																																																			MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	C	NM_152372		24413279	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	silent	SNP	0.000	T	T	24413279	C	T	24413279	2	4	10	1	0	0	0	0	0	0	0	1	10116	639	23	2		2	MYOM3	1	24413279	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	301111	24413279	224837342	6	1016										
THRAP3	9967	genome.wustl.edu	37	chr1	36754981	36754981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgatgaacccaaatttatgtCtaaagtcataggtgcaaaca	7	7	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:36754981C>T	ENST00000354618.5	+	5	1585	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S454F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	454	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S454F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAATTTATGTCTAAAGTCATA	0.438			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	lung(1)											72	74	73					1																	36754981		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1361C>T	1.37:g.36754981C>T	ENSP00000346634:p.Ser454Phe		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.S454F	ENST00000354618.5	37	c.1361	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919849	0.73098	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15834	2.39;2.39	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	T	0.38692	0.1050	L	0.59436	1.845	0.48830	D	0.99971	D	0.71674	0.998	D	0.65443	0.935	T	0.03773	-1.1005	10	0.87932	D	0	-2.3265	17.2906	0.87154	0.0:1.0:0.0:0.0	.	454	Q9Y2W1	TR150_HUMAN	F	454	ENSP00000346634:S454F;ENSP00000433825:S454F	ENSP00000346634:S454F	S	+	2	0	THRAP3	36527568	0.998000	0.40836	0.986000	0.45419	0.991000	0.79684	3.996000	0.57009	2.765000	0.95021	0.655000	0.94253	TCT	THRAP3	-	NULL		0.438	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36754981	1	no_errors	ENST00000354618	ensembl	human	known	70_37	missense	SNP	0.999	T	T	36754981	C	T	36754981	3	4	10	1	0	0	0	0	1	0	0	0	15904	913	32	1	1371	1	THRAP3	1	36754981	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	12341702	36754981	212495640	7	1017										
DHCR24	1718	genome.wustl.edu	37	chr1	55317994	55317994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctcgcagcttgtggtacaagGagccatcaaacatctcccag	9	13	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:55317994G>A	ENST00000371269.3	-	9	1561	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	DHCR24_ENST00000537443.1_Missense_Mutation_p.S272F|DHCR24_ENST00000535035.1_Missense_Mutation_p.S447F	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	488					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GTGGTACAAGGAGCCATCAAA	0.597																																					Pancreas(39;516 1021 24601 30715 32780)												0													144	125	131					1																	55317994		2203	4300	6503	SO:0001583	missense	1718			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1463C>T	1.37:g.55317994G>A	ENSP00000360316:p.Ser488Phe		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.S488F	ENST00000371269.3	37	c.1463	CCDS600.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207072	0.79127	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000537443;ENST00000535035	T;T;T	0.71579	-0.58;-0.58;-0.58	5.45	5.45	0.79879	.	0.277164	0.40064	N	0.001199	T	0.77274	0.4106	M	0.61703	1.905	0.46901	D	0.999246	D;P;D	0.56035	0.974;0.943;0.974	P;P;P	0.50617	0.646;0.547;0.553	T	0.78658	-0.2118	10	0.52906	T	0.07	-42.9406	19.2751	0.94029	0.0:0.0:1.0:0.0	.	447;447;488	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	F	214;488;272;447	ENSP00000360316:S488F;ENSP00000439852:S272F;ENSP00000440191:S447F	ENSP00000360316:S488F	S	-	2	0	DHCR24	55090582	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.229000	0.65316	2.572000	0.86782	0.462000	0.41574	TCC	DHCR24	-	NULL		0.597	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	G	NM_014762		55317994	-1	no_errors	ENST00000371269	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55317994	G	A	55317994	3	1	10	1	0	0	0	0	1	0	0	0	4486	1174	41	1	91	1	DHCR24	1	55317994	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	18563013	55317994	193932627	8	1018										
LEPR	3953	genome.wustl.edu	37	chr1	66058453	66058453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcttgtgcctgtgccaacagCcaaactcaacgacactctcc	6	16	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:66058453C>G	ENST00000349533.6	+	6	793	c.608C>G	c.(607-609)gCc>gGc	p.A203G	LEPR_ENST00000344610.8_Missense_Mutation_p.A203G|LEPR_ENST00000371059.3_Missense_Mutation_p.A203G|LEPR_ENST00000371060.3_Missense_Mutation_p.A203G|LEPR_ENST00000371058.1_Missense_Mutation_p.A203G|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCCAACAGCCAAACTCAAC	0.428																																																	0													147	134	138					1																	66058453		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.608C>G	1.37:g.66058453C>G	ENSP00000330393:p.Ala203Gly		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A203G	ENST00000349533.6	37	c.608	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950332	0.34377	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57107	0.44;0.43;0.44;0.42;0.44	5.96	5.05	0.67936	.	0.599505	0.17850	N	0.159898	T	0.41351	0.1155	M	0.72479	2.2	0.80722	D	1	P;P;P	0.43826	0.77;0.743;0.818	B;B;B	0.42593	0.219;0.392;0.392	T	0.51284	-0.8725	10	0.72032	D	0.01	-0.0957	9.456	0.38756	0.0:0.7849:0.0:0.2151	.	203;203;203	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	G	203	ENSP00000340884:A203G;ENSP00000330393:A203G;ENSP00000360099:A203G;ENSP00000360098:A203G;ENSP00000360097:A203G	ENSP00000340884:A203G	A	+	2	0	LEPR	65831041	0.845000	0.29573	0.905000	0.35620	0.289000	0.27227	1.403000	0.34612	1.531000	0.49152	0.650000	0.86243	GCC	LEPR	-	NULL		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66058453	1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.870	G	G	66058453	C	G	66058453	3	3	10	1	0	0	0	0	1	0	0	0	8748	739	26	4	622	4	LEPR	1	66058453	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	10740459	66058453	183192168	9	1019										
BCAR3	8412	genome.wustl.edu	37	chr1	94047999	94047999	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gactcaaactcgttgggcctGaaggaggagacagtctccag	13	10	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:94047999G>A	ENST00000370244.1	-	9	1833	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	BCAR3_ENST00000260502.6_Silent_p.F515F|BCAR3_ENST00000539242.1_Silent_p.F191F|BCAR3_ENST00000370247.3_Silent_p.F424F|BCAR3_ENST00000370243.1_Silent_p.F515F|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	515					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CGTTGGGCCTGAAGGAGGAGA	0.542																																																	0													122	115	117					1																	94047999		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1545C>T	1.37:g.94047999G>A			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.F515	ENST00000370244.1	37	c.1545	CCDS745.1	1																																																																																			BCAR3	-	superfamily_Ras_GEF_dom		0.542	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	G			94047999	-1	no_errors	ENST00000260502	ensembl	human	known	70_37	silent	SNP	0.999	A	A	94047999	G	A	94047999	2	1	10	1	0	0	0	0	0	0	0	1	1350	1281	45	1		1	BCAR3	1	94047999	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	27989546	94047999	155202622	10	1020										
LRIG2	9860	genome.wustl.edu	37	chr1	113658995	113658995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aggaaggctacagcaactctGaggcaggcagtcatcagcaa	12	10	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:113658995G>A	ENST00000361127.5	+	16	2815	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	873					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAGCAACTCTGAGGCAGGCAG	0.478																																																	0													91	84	86					1																	113658995		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2617G>A	1.37:g.113658995G>A	ENSP00000355396:p.Glu873Lys		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E873K	ENST00000361127.5	37	c.2617	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.925013	0.97110	.	.	ENSG00000198799	ENST00000361127	T	0.63417	-0.04	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.80183	2.485	0.58432	D	0.999999	D	0.55172	0.97	P	0.57620	0.824	T	0.76041	-0.3104	10	0.59425	D	0.04	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	873	O94898	LRIG2_HUMAN	K	873	ENSP00000355396:E873K	ENSP00000355396:E873K	E	+	1	0	LRIG2	113460518	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.813000	0.96785	0.561000	0.74099	GAG	LRIG2	-	NULL		0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	G	NM_014813		113658995	1	no_errors	ENST00000361127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113658995	G	A	113658995	3	1	10	1	0	0	0	0	1	0	0	0	8968	1291	45	1	2679	1	LRIG2	1	113658995	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	19610996	113658995	135591626	11	1021										
APH1A	51107	genome.wustl.edu	37	chr1	150240405	150240405	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	acacctcctgtagaaggacaGagacagcagcaccaaaaatc	8	12	0	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:150240405G>A	ENST00000369109.3	-	2	424	c.236C>T	c.(235-237)tCt>tTt	p.S79F	APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.S79F|APH1A_ENST00000461320.1_Intron	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	79					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.S79C(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGAAGGACAGAGACAGCAGC	0.557																																																	1	Substitution - Missense(1)	ovary(1)											92	99	96					1																	150240405		1980	4156	6136	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.236C>T	1.37:g.150240405G>A	ENSP00000358105:p.Ser79Phe		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	pfam_Aph-1	p.S79F	ENST00000369109.3	37	c.236	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350289	0.82132	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.57752	0.38;0.38	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.86573	2.825	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.81914	0.984;0.991;0.995	T	0.76027	-0.3109	10	0.62326	D	0.03	-7.0833	15.8372	0.78808	0.0:0.0:1.0:0.0	.	79;79;79	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	F	79	ENSP00000358105:S79F;ENSP00000353380:S79F	ENSP00000353380:S79F	S	-	2	0	APH1A	148507029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.540000	0.98080	2.586000	0.87340	0.591000	0.81541	TCT	APH1A	-	pfam_Aph-1		0.557	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150240405	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150240405	G	A	150240405	3	1	10	1	0	0	0	0	1	0	0	0	771	942	33	1	596	1	APH1A	1	150240405	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	36581410	150240405	99010216	12	1022										
FCRL1	115350	genome.wustl.edu	37	chr1	157773666	157773666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atctgggatctcctgctcctCaagactttggacgccattgt	9	12	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:157773666C>G	ENST00000368176.3	-	3	355	c.288G>C	c.(286-288)ttG>ttC	p.L96F	FCRL1_ENST00000358292.3_Missense_Mutation_p.L96F|FCRL1_ENST00000491942.1_Missense_Mutation_p.L96F|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	96	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTGCTCCTCAAGACTTTGG	0.557																																					GBM(54;482 1003 11223 30131 35730)												0													119	101	107					1																	157773666		2203	4300	6503	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.288G>C	1.37:g.157773666C>G	ENSP00000357158:p.Leu96Phe		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L96F	ENST00000368176.3	37	c.288	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188438	0.38609	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11930	2.73;2.73;2.73	4.29	-8.57	0.00900	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.515910	0.00892	N	0.002242	T	0.03053	0.0090	L	0.47716	1.5	0.09310	N	1	P;P;P	0.39404	0.642;0.672;0.666	P;P;B	0.44518	0.452;0.452;0.213	T	0.46331	-0.9199	10	0.10636	T	0.68	.	1.1519	0.01787	0.3379:0.1133:0.3182:0.2307	.	96;96;96	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	F	96	ENSP00000351039:L96F;ENSP00000357158:L96F;ENSP00000418130:L96F	ENSP00000351039:L96F	L	-	3	2	FCRL1	156040290	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.084000	0.03393	-1.885000	0.01118	-0.140000	0.14226	TTG	FCRL1	-	smart_Ig_sub,pfscan_Ig-like		0.557	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	C	NM_052938		157773666	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	missense	SNP	0.000	G	G	157773666	C	G	157773666	3	3	10	1	0	0	0	0	1	0	0	0	5812	825	29	1	1103	1	FCRL1	1	157773666	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	7533261	157773666	91476955	13	1023										
FCRL1	115350	genome.wustl.edu	37	chr1	157789795	157789795	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgctctgagttgcccaactcAccacagatcaacagcaacag	7	14	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:157789795A>G	ENST00000368176.3	-	1	99		c.e1+1		FCRL1_ENST00000358292.3_Splice_Site|FCRL1_ENST00000491942.1_Splice_Site	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGCCCAACTCACCACAGATCA	0.517																																					GBM(54;482 1003 11223 30131 35730)												0													127	104	112					1																	157789795		2203	4300	6503	SO:0001630	splice_region_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.31+1T>C	1.37:g.157789795A>G			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Splice_Site	SNP	-	e1+2	ENST00000368176.3	37	c.31+2	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662835	0.47572	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0854	0.36579	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL1	156056419	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.282000	0.51693	1.921000	0.55644	0.533000	0.62120	.	FCRL1	-	-		0.517	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	A	NM_052938	Intron	157789795	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	157789795	A	G	157789795	5	3	10	1	0	0	0	0	0	0	1	0	5812	173	6	5	1366	5	FCRL1	1	157789795	Splice_Site	SNP	A	TCGA-C5-A1BL-01A-11D-A13W-08	16129	157789795	91460826	14	1024										
SPTA1	6708	genome.wustl.edu	37	chr1	158639538	158639538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgttctctgaatcataatgGtcatcaccaatcaatttggt	6	8	5	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:158639538G>A	ENST00000368147.4	-	13	1818	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	546					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCATAATGGTCATCACCAA	0.408																																																	0													232	214	220					1																	158639538		1903	4116	6019	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1638C>T	1.37:g.158639538G>A			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D546	ENST00000368147.4	37	c.1638	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158639538	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	silent	SNP	0.002	A	A	158639538	G	A	158639538	2	1	10	1	0	0	0	0	0	0	0	1	15146	1252	44	4		4	SPTA1	1	158639538	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	849743	158639538	90611083	15	1025										
MPZL1	9019	genome.wustl.edu	37	chr1	167757061	167757061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgcttcccttttccagggccCagtcatatatgcacagttag	8	12	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:167757061C>T	ENST00000359523.2	+	6	915	c.713C>T	c.(712-714)cCa>cTa	p.P238L	MPZL1_ENST00000474859.1_Nonsense_Mutation_p.Q204*|MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.P88L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	238					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TTCCAGGGCCCAGTCATATAT	0.473																																																	0													105	96	99					1																	167757061		2203	4300	6503	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.713C>T	1.37:g.167757061C>T	ENSP00000352513:p.Pro238Leu		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.Q204*	ENST00000359523.2	37	c.610	CCDS1264.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.330415|4.330415	0.81690|0.81690	.|.	.|.	ENSG00000197965|ENSG00000197965	ENST00000359523;ENST00000392121|ENST00000474859;ENST00000367853	D;D|.	0.99089|.	-5.41;-3.28|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.516425	.|0.20172	.|N	.|0.097705	T|.	0.48370|.	0.1496|.	L|L	0.32530|0.32530	0.975|0.975	.|.	.|.	.|.	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	T|.	0.52041|.	-0.8628|.	8|.	0.87932|0.44086	D|T	0|0.13	.|.	16.5301|16.5301	0.84355|0.84355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88;238|.	B2REC0;O95297|.	.;MPZL1_HUMAN|.	L|X	238;88|204;178	ENSP00000352513:P238L;ENSP00000375968:P88L|.	ENSP00000352513:P238L|ENSP00000356827:Q178X	P|Q	+|+	2|1	0|0	MPZL1|MPZL1	166023685|166023685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.525000|3.525000	0.53502|0.53502	2.505000|2.505000	0.84491|0.84491	0.650000|0.650000	0.86243|0.86243	CCA|CAG	MPZL1	-	NULL		0.473	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	C	NM_024569		167757061	1	no_errors	ENST00000474859	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	167757061	C	T	167757061	3	4	10	1	0	0	0	0	1	0	0	0	9772	595	21	4	735	4	MPZL1	1	167757061	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	9117523	167757061	81493560	16	1026										
C1orf129	80133	genome.wustl.edu	37	chr1	170967418	170967418	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttaatattcctcactgaagtGagttttgtagactgtgaaca	8	6	1	4	rs201571110		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:170967418G>A	ENST00000367758.3	+	15	1698	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	533																	TCACTGAAGTGAGTTTTGTAG	0.398																																																	0													185	165	171					1																	170967418		1845	4084	5929	SO:0001819	synonymous_variant	80133			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1599G>A	1.37:g.170967418G>A			A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	superfamily_ARM-type_fold	p.V533	ENST00000367758.3	37	c.1599	CCDS41436.1	1																																																																																			C1orf129	-	NULL		0.398	MROH9-001	KNOWN	basic|CCDS	protein_coding	C1orf129	HGNC	protein_coding	OTTHUMT00000099327.1	G	NM_025063		170967418	1	no_errors	ENST00000367758	ensembl	human	known	70_37	silent	SNP	0.996	A	A	170967418	G	A	170967418	2	1	10	1	0	0	0	0	0	0	0	1	2001	1277	45	1		1	C1orf129	1	170967418	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3210357	170967418	78283203	17	1027										
TDRD5	163589	genome.wustl.edu	37	chr1	179561978	179561978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gcaggtggtactgtaatactGaaaggtaggtttaagatttt	12	3	0	2	rs144528038		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:179561978G>A	ENST00000367614.1	+	2	587	c.228G>A	c.(226-228)ctG>ctA	p.L76L	RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Silent_p.L76L|TDRD5_ENST00000444136.1_Silent_p.L76L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	76	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTGTAATACTGAAAGGTAGGT	0.403																																																	0								G	,,,	0,4406		0,0,2203	102	92	95		228,228,228,228	0.3	1	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_173533.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	76/1036,76/1036,76/982,76/982	179561978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.228G>A	1.37:g.179561978G>A			A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L76	ENST00000367614.1	37	c.228	CCDS1332.1	1																																																																																			TDRD5	-	NULL		0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	G	NM_173533		179561978	1	no_errors	ENST00000444136	ensembl	human	known	70_37	silent	SNP	0.634	A	A	179561978	G	A	179561978	2	1	10	1	0	0	0	0	0	0	0	1	15763	1277	45	1		1	TDRD5	1	179561978	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	8594560	179561978	69688643	18	1028										
CRB1	23418	genome.wustl.edu	37	chr1	197237592	197237592	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	catcttctacctcagtttctCactgcttatctacataaaaa	2	12	5	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:197237592C>T	ENST00000367400.3	+	1	185	c.50C>T	c.(49-51)tCa>tTa	p.S17L	CRB1_ENST00000367399.2_Missense_Mutation_p.S17L|CRB1_ENST00000538660.1_Missense_Mutation_p.S17L|CRB1_ENST00000535699.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	17					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCAGTTTCTCACTGCTTATC	0.383																																																	0													204	192	196					1																	197237592		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.50C>T	1.37:g.197237592C>T	ENSP00000356370:p.Ser17Leu		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S17L	ENST00000367400.3	37	c.50	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053395	0.19907	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.86956	-2.06;-1.73;-2.19	5.67	-0.0128	0.13987	.	.	.	.	.	T	0.79347	0.4430	L	0.44542	1.39	0.18873	N	0.999989	B;B;B;B	0.14012	0.002;0.009;0.002;0.001	B;B;B;B	0.15484	0.004;0.013;0.001;0.001	T	0.61969	-0.6953	9	0.23302	T	0.38	.	7.6434	0.28307	0.0:0.3498:0.0:0.6502	.	17;17;17;42	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	L	17	ENSP00000438091:S17L;ENSP00000356370:S17L;ENSP00000356369:S17L	ENSP00000356369:S17L	S	+	2	0	CRB1	195504215	1.000000	0.71417	0.159000	0.22649	0.095000	0.18619	1.667000	0.37471	0.083000	0.17047	0.650000	0.86243	TCA	CRB1	-	NULL		0.383	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	C	NM_201253		197237592	1	no_errors	ENST00000367400	ensembl	human	known	70_37	missense	SNP	0.175	T	T	197237592	C	T	197237592	3	4	10	1	0	0	0	0	1	0	0	0	3853	838	29	1	52	1	CRB1	1	197237592	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	17675614	197237592	52013029	19	1029										
CR1	1378	genome.wustl.edu	37	chr1	207785320	207785320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cttcctgggccaactccctcAtggccgtgtgctacttccac	8	17	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:207785320A>G	ENST00000367049.4	+	39	6509	c.6509A>G	c.(6508-6510)cAt>cGt	p.H2170R	CR1_ENST00000367052.1_Missense_Mutation_p.H1720R|CR1_ENST00000367053.1_Missense_Mutation_p.H1720R|CR1_ENST00000367051.1_Missense_Mutation_p.H1720R|CR1_ENST00000400960.2_Missense_Mutation_p.H1720R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1720					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAACTCCCTCATGGCCGTGTG	0.483																																																	0													283	271	274					1																	207785320		1941	4134	6075	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6509A>G	1.37:g.207785320A>G	ENSP00000356016:p.His2170Arg		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H2170R	ENST00000367049.4	37	c.6509	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	A	9.497	1.102326	0.20632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	3.21	3.21	0.36854	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56790	0.2009	L	0.38953	1.18	0.21256	N	0.999746	B;P	0.49559	0.411;0.925	B;B	0.44224	0.151;0.444	T	0.48670	-0.9015	9	0.49607	T	0.09	.	8.1798	0.31305	1.0:0.0:0.0:0.0	.	1720;2170	P17927;E9PDY4	CR1_HUMAN;.	R	1720;1720;1720;1720;2170	ENSP00000356019:H1720R;ENSP00000356018:H1720R;ENSP00000356020:H1720R;ENSP00000383744:H1720R;ENSP00000356016:H2170R	ENSP00000356016:H2170R	H	+	2	0	CR1	205851943	0.991000	0.36638	0.657000	0.29651	0.503000	0.33858	3.721000	0.54941	1.689000	0.51079	0.418000	0.28097	CAT	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	A	NM_000573		207785320	1	no_errors	ENST00000367049	ensembl	human	known	70_37	missense	SNP	0.728	G	G	207785320	A	G	207785320	3	3	10	1	0	0	0	0	1	0	0	0	3845	217	8	5	6663	5	CR1	1	207785320	Missense_Mutation	SNP	A	TCGA-C5-A1BL-01A-11D-A13W-08	10547728	207785320	41465301	20	1030										
MIA3	375056	genome.wustl.edu	37	chr1	222801802	222801802	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gttcagaggaagaaaaagaaGatgatgatgatgcattagtc	12	3	1	7			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:222801802G>A	ENST00000344922.5	+	4	1265	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D414N|MIA3_ENST00000344507.1_Missense_Mutation_p.D414N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	414					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAAAGAAGATGATGATGA	0.413																																																	0													112	106	108					1																	222801802		1936	4137	6073	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1240G>A	1.37:g.222801802G>A	ENSP00000340900:p.Asp414Asn		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.D414N	ENST00000344922.5	37	c.1240	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291228	0.40494	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.41758	0.99;0.99;1.35	4.99	4.99	0.66335	.	.	.	.	.	T	0.34366	0.0895	N	0.08118	0	0.38365	D	0.944726	P;P	0.37781	0.557;0.608	P;B	0.44359	0.447;0.261	T	0.44590	-0.9318	9	0.48119	T	0.1	.	18.6081	0.91273	0.0:0.0:1.0:0.0	.	414;414	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	N	414	ENSP00000340900:D414N;ENSP00000340587:D414N;ENSP00000341348:D414N	ENSP00000325973:D414N	D	+	1	0	MIA3	220868425	0.977000	0.34250	0.237000	0.24090	0.366000	0.29705	2.318000	0.43779	2.464000	0.83262	0.195000	0.17529	GAT	MIA3	-	NULL		0.413	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222801802	1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.998	A	A	222801802	G	A	222801802	3	1	10	1	0	0	0	0	1	0	0	0	9588	942	33	1	1254	1	MIA3	1	222801802	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	15016482	222801802	26448819	21	1031										
LEFTY2	7044	genome.wustl.edu	37	chr1	226127637	226127637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctcgctgttgggcggcagccGctgctccatgccgaacacca	12	16	0	0	rs375598455		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:226127637G>A	ENST00000366820.5	-	2	664	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Intron|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	106					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGCGGCAGCCGCTGCTCCATG	0.726																																					Colon(172;116 2643 9098 43333)												0								G	,TRP/ARG	0,4010		0,0,2005	8	9	9		,316	4.2	1	1		9	1,7813		0,1,3906	no	intron,missense	LEFTY2	NM_001172425.1,NM_003240.3	,101	0,1,5911	AA,AG,GG		0.0128,0.0,0.0085	,probably-damaging	,106/367	226127637	1,11823	2005	3907	5912	SO:0001583	missense	7044			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.316C>T	1.37:g.226127637G>A	ENSP00000355785:p.Arg106Trp		B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.R106W	ENST00000366820.5	37	c.316	CCDS1549.1	1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.146041	0.77888	0.0	1.28E-4	ENSG00000143768	ENST00000366820	T	0.65178	-0.14	4.25	4.25	0.50352	Transforming growth factor-beta, N-terminal (1);	0.060273	0.64402	D	0.000005	T	0.77512	0.4141	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80169	-0.1494	10	0.87932	D	0	.	10.1552	0.42818	0.0:0.0:0.7432:0.2568	.	106	O00292	LFTY2_HUMAN	W	106	ENSP00000355785:R106W	ENSP00000355785:R106W	R	-	1	2	LEFTY2	224194260	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.750000	0.26334	2.082000	0.62665	0.561000	0.74099	CGG	LEFTY2	-	pfam_TGF-b_N,pirsf_LRDF,prints_LRDF		0.726	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY2	HGNC	protein_coding	OTTHUMT00000091152.1	G	NM_003240		226127637	-1	no_errors	ENST00000366820	ensembl	human	known	70_37	missense	SNP	0.988	A	A	226127637	G	A	226127637	3	1	10	1	0	0	0	0	1	0	0	0	8736	1086	38	2	796	2	LEFTY2	1	226127637	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3325835	226127637	23122984	22	1032										
PARP1	142	genome.wustl.edu	37	chr1	226578157	226578157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cttcttcagggcttctttatCctctgtagcaaggaggctga	10	10	4	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:226578157C>G	ENST00000366794.5	-	4	714	c.571G>C	c.(571-573)Gat>Cat	p.D191H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	191					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTTCTTTATCCTCTGTAGCA	0.587								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													58	62	60					1																	226578157		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.571G>C	1.37:g.226578157C>G	ENSP00000355759:p.Asp191His		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.D191H	ENST00000366794.5	37	c.571	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911717	0.92178	.	.	ENSG00000143799	ENST00000432338;ENST00000366794	T	0.39229	1.09	5.13	5.13	0.70059	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84199	0.0449	10	0.87932	D	0	.	18.9648	0.92692	0.0:1.0:0.0:0.0	.	191	P09874	PARP1_HUMAN	H	191	ENSP00000355759:D191H	ENSP00000355759:D191H	D	-	1	0	PARP1	224644780	1.000000	0.71417	0.887000	0.34795	0.929000	0.56500	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAT	PARP1	-	pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP		0.587	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	C	NM_001618		226578157	-1	no_errors	ENST00000366794	ensembl	human	known	70_37	missense	SNP	1.000	G	G	226578157	C	G	226578157	3	3	10	1	0	0	0	0	1	0	0	0	11478	855	30	1	2553	1	PARP1	1	226578157	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	450520	226578157	22672464	23	1033										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232650310	232650310	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgtccacataatctaatcctGagatgcggacaaattctccc	6	12	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:232650310G>A	ENST00000366630.1	-	2	1134	c.776C>T	c.(775-777)tCa>tTa	p.S259L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S259L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	259					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATCTAATCCTGAGATGCGGAC	0.502																																																	0													66	66	66					1																	232650310		1884	4120	6004	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.776C>T	1.37:g.232650310G>A	ENSP00000355589:p.Ser259Leu		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.S259L	ENST00000366630.1	37	c.776	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178119	0.57692	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79454	-1.27;-1.27	5.44	5.44	0.79542	.	0.070422	0.64402	D	0.000013	T	0.73753	0.3627	L	0.46157	1.445	0.80722	D	1	P	0.48764	0.915	B	0.39465	0.3	T	0.78229	-0.2285	10	0.66056	D	0.02	-17.6922	19.4586	0.94906	0.0:0.0:1.0:0.0	.	259	Q9P2F8	SI1L2_HUMAN	L	259	ENSP00000355589:S259L;ENSP00000262861:S259L	ENSP00000262861:S259L	S	-	2	0	SIPA1L2	230716933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.298000	0.78815	2.834000	0.97654	0.650000	0.86243	TCA	SIPA1L2	-	NULL		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	G	XM_045839		232650310	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	232650310	G	A	232650310	3	1	10	1	0	0	0	0	1	0	0	0	14360	1294	45	1	4476	1	SIPA1L2	1	232650310	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	6072153	232650310	16600311	24	1034										
GPR137B	7107	genome.wustl.edu	37	chr1	236341882	236341882	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgtgccgtctctctctccatCtgtctctacaaaatctctaa	4	14	5	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:236341882C>G	ENST00000366592.3	+	3	724	c.633C>G	c.(631-633)atC>atG	p.I211M	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	211						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTCTCTCCATCTGTCTCTACA	0.473																																																	0													231	204	213					1																	236341882		2203	4300	6503	SO:0001583	missense	7107			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.633C>G	1.37:g.236341882C>G	ENSP00000355551:p.Ile211Met		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.I211M	ENST00000366592.3	37	c.633	CCDS1609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.243137|2.243137	0.39697|0.39697	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000366592;ENST00000391852|ENST00000454895	T|.	0.47528|.	0.84|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.376671|.	0.30658|.	N|.	0.009154|.	T|T	0.57489|0.57489	0.2057|0.2057	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.36909|.	0.573|.	B|.	0.39339|.	0.297|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.37606|.	T|.	0.19|.	-21.2276|-21.2276	9.0351|9.0351	0.36282|0.36282	0.1479:0.7786:0.0:0.0735|0.1479:0.7786:0.0:0.0735	.|.	211|.	O60478|.	G137B_HUMAN|.	M|C	211;210|75	ENSP00000355551:I211M|.	ENSP00000355551:I211M|.	I|S	+|+	3|2	3|0	GPR137B|GPR137B	234408505|234408505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.408000|2.408000	0.44574|0.44574	2.685000|2.685000	0.91497|0.91497	0.561000|0.561000	0.74099|0.74099	ATC|TCT	GPR137B	-	NULL		0.473	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	HGNC	protein_coding	OTTHUMT00000092761.1	C	NM_003272		236341882	1	no_errors	ENST00000366592	ensembl	human	known	70_37	missense	SNP	1.000	G	G	236341882	C	G	236341882	3	3	10	1	0	0	0	0	1	0	0	0	6665	903	32	1	643	1	GPR137B	1	236341882	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	3691572	236341882	12908739	25	1035										
RYR2	6262	genome.wustl.edu	37	chr1	237774171	237774171	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtcacacgtcctgtggagcaGaatgcccaaccagtttttga	10	11	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:237774171G>A	ENST00000366574.2	+	36	5110	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	RYR2_ENST00000360064.6_Missense_Mutation_p.R1596K|RYR2_ENST00000542537.1_Missense_Mutation_p.R1582K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1598	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTGGAGCAGAATGCCCAAC	0.547																																																	0													65	64	64					1																	237774171		1973	4149	6122	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4793G>A	1.37:g.237774171G>A	ENSP00000355533:p.Arg1598Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R1596K	ENST00000366574.2	37	c.4787	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.716725	0.96830	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97959	-4.63;-4.61;-4.62	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000023	D	0.98482	0.9494	M	0.87682	2.9	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	D	0.99537	1.0962	10	0.87932	D	0	.	19.0203	0.92912	0.0:0.0:1.0:0.0	.	1598	Q92736	RYR2_HUMAN	K	1598;1596;1582	ENSP00000355533:R1598K;ENSP00000353174:R1596K;ENSP00000443798:R1582K	ENSP00000353174:R1596K	R	+	2	0	RYR2	235840794	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.595000	0.98260	2.715000	0.92844	0.655000	0.94253	AGA	RYR2	-	NULL		0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237774171	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.999	A	A	237774171	G	A	237774171	3	1	10	1	0	0	0	0	1	0	0	0	13799	942	33	1	4935	1	RYR2	1	237774171	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1432289	237774171	11476450	26	1036										
KIF26B	55083	genome.wustl.edu	37	chr1	245850144	245850144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cctggctgagcgagatgagcGcgggcagtgagggtgagcag	20	8	0	5			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:245850144G>A	ENST00000407071.2	+	12	4299	c.3859G>A	c.(3859-3861)Gcg>Acg	p.A1287T	KIF26B_ENST00000366518.4_Missense_Mutation_p.A906T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1287					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGAGATGAGCGCGGGCAGTGA	0.607																																																	0													35	42	40					1																	245850144		2128	4225	6353	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3859G>A	1.37:g.245850144G>A	ENSP00000385545:p.Ala1287Thr		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1287T	ENST00000407071.2	37	c.3859	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	1.403	-0.577653	0.03854	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.01	5.92	-1.74	0.08056	.	.	.	.	.	T	0.54143	0.1840	N	0.05230	-0.09	0.20403	N	0.999907	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.0	T	0.34850	-0.9812	9	0.21540	T	0.41	.	11.0949	0.48139	0.5299:0.0:0.4701:0.0	.	906;1287	B7WPD9;Q2KJY2	.;KI26B_HUMAN	T	1287;906;903	ENSP00000385545:A1287T;ENSP00000355475:A906T	ENSP00000355475:A906T	A	+	1	0	KIF26B	243916767	0.359000	0.24955	0.108000	0.21378	0.098000	0.18820	0.551000	0.23361	-0.262000	0.09392	0.561000	0.74099	GCG	KIF26B	-	NULL		0.607	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245850144	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	0.612	A	A	245850144	G	A	245850144	3	1	10	1	0	0	0	0	1	0	0	0	8315	1087	38	2	3905	2	KIF26B	1	245850144	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	8075973	245850144	3400477	27	1037										
GTF3C2	2976	genome.wustl.edu	37	chr2	27565900	27565900	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gaccaggaaccagtggggctGatggaggattaggctgttgg	18	6	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:27565900G>T	ENST00000359541.2	-	3	791	c.362C>A	c.(361-363)tCa>tAa	p.S121*	AC109828.1_ENST00000588707.1_RNA|GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.S121*|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	121					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGGGGCTGATGGAGGATT	0.557																																																	0													100	95	96					2																	27565900		2203	4300	6503	SO:0001587	stop_gained	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.362C>A	2.37:g.27565900G>T	ENSP00000352536:p.Ser121*		D6W557|Q16632|Q9BWI7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S121*	ENST00000359541.2	37	c.362	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.147701	0.94603	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748	.	.	.	5.31	5.31	0.75309	.	0.800879	0.11146	N	0.594675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	0.0874	14.351	0.66702	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000264720:S121X	S	-	2	0	GTF3C2	27419404	0.933000	0.31639	0.915000	0.36163	0.998000	0.95712	3.101000	0.50283	2.763000	0.94921	0.563000	0.77884	TCA	GTF3C2	-	NULL		0.557	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	G			27565900	-1	no_errors	ENST00000264720	ensembl	human	known	70_37	nonsense	SNP	0.958	T	T	27565900	G	T	27565900	4	4	10	1	0	0	0	0	0	1	0	0	6893	1294	45	3	2441	3	GTF3C2	2	27565900	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		27565900	215633473	28	1038										
TTC27	55622	genome.wustl.edu	37	chr2	32889467	32889467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtgtttttatattattatgaGtacagaaaagcaaaagatca	7	3	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:32889467G>A	ENST00000317907.4	+	6	969	c.738G>A	c.(736-738)gaG>gaA	p.E246E		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	246										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTATTATGAGTACAGAAAAG	0.313																																																	0													104	106	105					2																	32889467		2202	4297	6499	SO:0001819	synonymous_variant	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.738G>A	2.37:g.32889467G>A			A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E246	ENST00000317907.4	37	c.738	CCDS33176.1	2																																																																																			TTC27	-	NULL		0.313	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	G	NM_017735		32889467	1	no_errors	ENST00000317907	ensembl	human	known	70_37	silent	SNP	0.998	A	A	32889467	G	A	32889467	2	1	10	1	0	0	0	0	0	0	0	1	16726	1020	36	4		4	TTC27	2	32889467	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	5323567	32889467	210309906	29	1039										
FANCL	55120	genome.wustl.edu	37	chr2	58388716	58388716	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agaattatcacacacttgatCaggaatggtaccgtcaagtt	8	8	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:58388716C>T	ENST00000233741.4	-	12	997	c.961G>A	c.(961-963)Gat>Aat	p.D321N	FANCL_ENST00000403676.1_Missense_Mutation_p.D204N|FANCL_ENST00000402135.3_Missense_Mutation_p.D326N|FANCL_ENST00000403295.3_Missense_Mutation_p.D293N	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	321					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CACACTTGATCAGGAATGGTA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													98	101	100					2																	58388716		2202	4300	6502	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.961G>A	2.37:g.58388716C>T	ENSP00000233741:p.Asp321Asn		Q6GU60	Missense_Mutation	SNP	pfam_FancL_WD-rpt_cont_dom	p.D321N	ENST00000233741.4	37	c.961	CCDS1860.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.373910	0.95923	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070	T;T;T;T;T	0.69306	-0.39;-0.33;-0.33;-0.39;-0.39	5.91	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.134986	0.64402	N	0.000003	T	0.78052	0.4223	L	0.53617	1.68	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;1.0	D;D;D;D	0.80764	0.961;0.936;0.993;0.994	T	0.80042	-0.1548	10	0.66056	D	0.02	-6.3707	14.8499	0.70289	0.0:0.9314:0.0:0.0686	.	262;293;326;321	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	N	293;321;326;204;262	ENSP00000386097:D293N;ENSP00000233741:D321N;ENSP00000385021:D326N;ENSP00000384046:D204N;ENSP00000401280:D262N	ENSP00000233741:D321N	D	-	1	0	FANCL	58242220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.692000	0.68256	1.510000	0.48803	0.650000	0.86243	GAT	FANCL	-	NULL		0.313	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FANCL	HGNC	protein_coding	OTTHUMT00000251497.1	C	NM_018062		58388716	-1	no_errors	ENST00000233741	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58388716	C	T	58388716	3	4	10	1	0	0	0	0	1	0	0	0	5688	826	29	1	178	1	FANCL	2	58388716	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	25499249	58388716	184810657	30	1040										
AMMECR1L	83607	genome.wustl.edu	37	chr2	128628868	128628868	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctgaatgaagattcatggctGagaaggtcccaatgcagcca	11	9	1	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:128628868G>C	ENST00000272647.5	-	4	733	c.473C>G	c.(472-474)tCa>tGa	p.S158*	AMMECR1L_ENST00000393001.1_Nonsense_Mutation_p.S158*	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	158	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		ATTCATGGCTGAGAAGGTCCC	0.458																																																	0													66	66	66					2																	128628868		2203	4300	6503	SO:0001587	stop_gained	83607				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.473C>G	2.37:g.128628868G>C	ENSP00000272647:p.Ser158*		B4E276	Nonsense_Mutation	SNP	pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	p.S158*	ENST00000272647.5	37	c.473	CCDS2152.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.450642	0.98292	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.3052	19.5431	0.95282	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000272647:S158X	S	-	2	0	AMMECR1L	128345338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.695000	0.91970	0.643000	0.83706	TCA	AMMECR1L	-	pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1		0.458	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMMECR1L	HGNC	protein_coding	OTTHUMT00000254392.1	G	NM_031445		128628868	-1	no_errors	ENST00000272647	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	128628868	G	C	128628868	4	2	10	1	0	0	0	0	0	1	0	0	579	1294	45	1	479	1	AMMECR1L	2	128628868	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	70240152	128628868	114570505	31	1041										
CACNB4	785	genome.wustl.edu	37	chr2	152695761	152695761	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtaatgatctcggctatgctGagaactggaagacaagcggt	13	7	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:152695761G>A	ENST00000539935.1	-	14	1502	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.Q445*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.Q432*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.Q446*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.Q461*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.Q417*	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	479					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCTATGCTGAGAACTGGAA	0.458																																																	0													117	116	116					2																	152695761		1969	4168	6137	SO:0001587	stop_gained	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1435C>T	2.37:g.152695761G>A	ENSP00000438949:p.Gln479*		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.Q480*	ENST00000539935.1	37	c.1438	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.384049	0.95967	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.3563	18.8721	0.92319	0.0:0.0:1.0:0.0	.	.	.	.	X	479;446;374;474;445;432;461;417;480	.	ENSP00000201943:Q417X	Q	-	1	0	CACNB4	152404007	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.382000	0.97209	2.457000	0.83068	0.460000	0.39030	CAG	CACNB4	-	NULL		0.458	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152695761	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152695761	G	A	152695761	4	1	10	1	0	0	0	0	0	1	0	0	2560	1299	45	1	131	1	CACNB4	2	152695761	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	24066893	152695761	90503612	32	1042										
SLC4A10	57282	genome.wustl.edu	37	chr2	162757477	162757477	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gcagctcatggggaagcagaGccccacggaggacatagtgg	16	10	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:162757477G>C	ENST00000446997.1	+	12	1491	c.1398G>C	c.(1396-1398)gaG>gaC	p.E466D	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E436D|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E436D|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E466D|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.E447D	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	466					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GGGAAGCAGAGCCCCACGGAG	0.438																																																	0													47	53	51					2																	162757477		1953	4132	6085	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1398G>C	2.37:g.162757477G>C	ENSP00000393066:p.Glu466Asp		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E466D	ENST00000446997.1	37	c.1398	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461009	0.26248	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80304	-1.36;-1.36;-1.35;-1.35;-1.35	5.27	2.45	0.29901	.	0.088458	0.85682	D	0.000000	T	0.78648	0.4316	M	0.66297	2.02	0.58432	D	0.99999	B;B;B;B	0.32051	0.354;0.002;0.354;0.212	B;B;B;B	0.38755	0.281;0.006;0.209;0.065	T	0.72707	-0.4212	10	0.44086	T	0.13	.	8.8788	0.35363	0.3897:0.0:0.6103:0.0	.	447;466;436;466	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	D	447;436;436;435;466;466;465	ENSP00000364664:E447D;ENSP00000395797:E436D;ENSP00000272716:E436D;ENSP00000393066:E466D;ENSP00000404486:E466D	ENSP00000272716:E436D	E	+	3	2	SLC4A10	162465723	0.997000	0.39634	0.994000	0.49952	0.986000	0.74619	0.400000	0.20932	0.299000	0.22661	0.655000	0.94253	GAG	SLC4A10	-	tigrfam_HCO3_transpt_euk		0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162757477	1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	0.999	C	C	162757477	G	C	162757477	3	2	10	1	0	0	0	0	1	0	0	0	14681	962	34	4	1529	4	SLC4A10	2	162757477	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	10061716	162757477	80441896	33	1043										
NFE2L2	4780	genome.wustl.edu	37	chr2	178096193	178096193	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccaggggcactatctagctCttccacttcagaatcactga	7	13	4	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:178096193C>G	ENST00000397062.3	-	5	1692	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E364Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E357Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E364Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	380					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E380*(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTATCTAGCTCTTCCACTTCA	0.478			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Substitution - Nonsense(1)	large_intestine(1)											152	152	152					2																	178096193		2181	4296	6477	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1138G>C	2.37:g.178096193C>G	ENSP00000380252:p.Glu380Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E380Q	ENST00000397062.3	37	c.1138	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932168	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.33216	2.16;2.16;2.16;1.42	5.83	5.83	0.93111	.	0.135056	0.64402	D	0.000003	T	0.44393	0.1291	M	0.72894	2.215	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.46629	0.522;0.522	T	0.45948	-0.9226	10	0.66056	D	0.02	-16.5333	20.1374	0.98035	0.0:1.0:0.0:0.0	.	357;380	E9PGJ7;Q16236	.;NF2L2_HUMAN	Q	364;380;357;108	ENSP00000380253:E364Q;ENSP00000380252:E380Q;ENSP00000411575:E357Q;ENSP00000391590:E108Q	ENSP00000380252:E380Q	E	-	1	0	NFE2L2	177804439	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.274000	0.78538	2.763000	0.94921	0.563000	0.77884	GAG	NFE2L2	-	superfamily_Serpin_dom		0.478	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178096193	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178096193	C	G	178096193	3	3	10	1	0	0	0	0	1	0	0	0	10392	922	32	1	683	1	NFE2L2	2	178096193	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	15338716	178096193	65103180	34	1044										
NFE2L2	4780	genome.wustl.edu	37	chr2	178097218	178097218	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tacctgagcaacagaagtttCaggtgactgagcctgattag	11	8	1	5			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:178097218C>A	ENST00000397062.3	-	4	1050	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.E150*|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.E143*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.E150*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	166					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACAGAAGTTTCAGGTGACTGA	0.458			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													69	66	67					2																	178097218		1907	4119	6026	SO:0001587	stop_gained	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.496G>T	2.37:g.178097218C>A	ENSP00000380252:p.Glu166*		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Nonsense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E166*	ENST00000397062.3	37	c.496	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.903047	0.97924	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929	.	.	.	5.94	3.13	0.36017	.	1.617100	0.03055	N	0.155102	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6464	0.39870	0.0:0.6489:0.2272:0.1238	.	.	.	.	X	150;166;143;150;150	.	ENSP00000380252:E166X	E	-	1	0	NFE2L2	177805464	0.059000	0.20769	0.092000	0.20876	0.098000	0.18820	1.106000	0.31098	0.387000	0.25024	0.561000	0.74099	GAA	NFE2L2	-	NULL		0.458	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178097218	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	nonsense	SNP	0.027	A	A	178097218	C	A	178097218	4	1	10	1	0	0	0	0	0	1	0	0	10392	835	29	3	1329	3	NFE2L2	2	178097218	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	1025	178097218	65102155	35	1045										
TTN	7273	genome.wustl.edu	37	chr2	179433734	179433734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gacactgtttctggtgacatCatccacagttatttttccag	7	10	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179433734C>T	ENST00000591111.1	-	276	72426	c.72202G>A	c.(72202-72204)Gat>Aat	p.D24068N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644N|TTN_ENST00000342992.6_Missense_Mutation_p.D23141N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D25709N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16836N			Q8WZ42	TITIN_HUMAN	titin	24068	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGACATCATCCACAGTT	0.438																																																	0													198	186	190					2																	179433734		1996	4184	6180	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72202G>A	2.37:g.179433734C>T	ENSP00000465570:p.Asp24068Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D23141N	ENST00000591111.1	37	c.69421		2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858359	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.83	5.83	0.93111	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72518	0.3470	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.73266	-0.4037	9	0.87932	D	0	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	16644;16769;16836;24068	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	23141;16644;16836;16769;16642	ENSP00000343764:D23141N;ENSP00000434586:D16644N;ENSP00000340554:D16836N;ENSP00000352154:D16769N	ENSP00000340554:D16836N	D	-	1	0	TTN	179141980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179433734	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179433734	C	T	179433734	3	4	10	1	0	0	0	0	1	0	0	0	16766	826	29	1	31002	1	TTN	2	179433734	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	1336516	179433734	63765639	36	1046										
TTN	7273	genome.wustl.edu	37	chr2	179585223	179585223	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aaggatatgaagacttgtatCaaaatgttttgaagtgattt	9	2	1	4	rs534249494		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179585223C>T	ENST00000591111.1	-	78	22539	c.22315G>A	c.(22315-22317)Gat>Aat	p.D7439N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6512N|TTN_ENST00000589042.1_Missense_Mutation_p.D7756N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12998	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTTGTATCAAAATGTTTT	0.393																																																	0													102	93	96					2																	179585223		1828	4077	5905	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22315G>A	2.37:g.179585223C>T	ENSP00000465570:p.Asp7439Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D6512N	ENST00000591111.1	37	c.19534		2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014155	0.35511	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45276	0.1334	N	0.10945	0.07	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45190	-0.9278	9	0.87932	D	0	.	6.7369	0.23415	0.0:0.7107:0.1774:0.1119	.	7439	Q8WZ42	TITIN_HUMAN	N	6512	ENSP00000343764:D6512N	ENSP00000343764:D6512N	D	-	1	0	TTN	179293468	0.039000	0.19947	1.000000	0.80357	0.987000	0.75469	0.285000	0.18883	2.711000	0.92665	0.650000	0.86243	GAT	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179585223	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179585223	C	T	179585223	3	4	10	1	0	0	0	0	1	0	0	0	16766	826	29	1	81395	1	TTN	2	179585223	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	151489	179585223	63614150	37	1047										
TTN	7273	genome.wustl.edu	37	chr2	179616503	179616503	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aagacctgttgggatgggccGattgttatgaaaccaagtca	12	7	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179616503G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R3542W|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3542W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATGGGCCGATTGTTATGA	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											80	81	81					2																	179616503		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1347C>T	2.37:g.179616503G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R3542W	ENST00000591111.1	37	c.10624		2	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369432	0.42003	.	.	ENSG00000155657	ENST00000360870	T	0.68181	-0.31	5.86	1.35	0.21983	.	.	.	.	.	T	0.77525	0.4143	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.78723	-0.2093	9	0.66056	D	0.02	.	16.1147	0.81301	0.0:0.0:0.3089:0.6911	.	3542	Q8WZ42-6	.	W	3542	ENSP00000354117:R3542W	ENSP00000354117:R3542W	R	-	1	2	TTN	179324748	0.998000	0.40836	0.084000	0.20598	0.588000	0.36517	2.618000	0.46393	0.006000	0.14734	-0.182000	0.12963	CGG	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179616503	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.969	A	A	179616503	G	A	179616503	1	1	10	0	1	0	0	0	0	0	0	0	16766	1057	37	1		1	TTN	2	179616503	Intron	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	31280	179616503	63582870	38	1048										
TTN	7273	genome.wustl.edu	37	chr2	179641067	179641067	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctctgggtacaagacaatgtCtggcttttgcttttctttct	8	9	4	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179641067C>T	ENST00000591111.1	-	28	5748	c.5524G>A	c.(5524-5526)Gac>Aac	p.D1842N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D1796N|TTN_ENST00000342992.6_Missense_Mutation_p.D1842N|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D1842N|TTN_ENST00000359218.5_Missense_Mutation_p.D1796N|TTN_ENST00000360870.5_Missense_Mutation_p.D1842N|TTN_ENST00000342175.6_Missense_Mutation_p.D1796N			Q8WZ42	TITIN_HUMAN	titin	12670	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGACAATGTCTGGCTTTTGC	0.473																																																	0													173	174	174					2																	179641067		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5524G>A	2.37:g.179641067C>T	ENSP00000465570:p.Asp1842Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D1842N	ENST00000591111.1	37	c.5524		2	.	.	.	.	.	.	.	.	.	.	c	13.97	2.396199	0.42512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70254	0.3203	N	0.22421	0.69	0.40472	D	0.980351	P;P;P;P;D	0.67145	0.939;0.939;0.939;0.939;0.996	P;P;P;P;P	0.59948	0.739;0.739;0.739;0.795;0.866	T	0.75929	-0.3144	9	0.87932	D	0	.	18.6477	0.91416	0.0:1.0:0.0:0.0	.	1796;1796;1796;1842;1842	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1842;1796;1796;1796;1796;1842	ENSP00000343764:D1842N;ENSP00000434586:D1796N;ENSP00000340554:D1796N;ENSP00000352154:D1796N;ENSP00000354117:D1842N	ENSP00000340554:D1796N	D	-	1	0	TTN	179349312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.417000	0.82017	0.651000	0.88453	GAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641067	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179641067	C	T	179641067	3	4	10	1	0	0	0	0	1	0	0	0	16766	913	32	1	105804	1	TTN	2	179641067	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	24564	179641067	63558306	39	1049										
ABCA12	26154	genome.wustl.edu	37	chr2	215855600	215855600	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gagaagctgtagtccgaaaaAtacaggaacaaaatgaaccc	9	8	0	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:215855600A>C	ENST00000272895.7	-	24	3669	c.3450T>G	c.(3448-3450)taT>taG	p.Y1150*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Y832*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1150					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTCCGAAAAATACAGGAACA	0.393																																					Ovarian(66;664 1488 5121 34295)												0													108	105	106					2																	215855600		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3450T>G	2.37:g.215855600A>C	ENSP00000272895:p.Tyr1150*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y1150*	ENST00000272895.7	37	c.3450	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	41	8.582422	0.98872	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.91	-0.474	0.12108	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	12.1762	0.54186	0.4286:0.0:0.5714:0.0	.	.	.	.	X	1150;832	.	ENSP00000272895:Y1150X	Y	-	3	2	ABCA12	215563845	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.115000	0.50391	-0.294000	0.08973	-1.080000	0.02220	TAT	ABCA12	-	NULL		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	A	NM_173076		215855600	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	215855600	A	C	215855600	4	2	10	1	0	0	0	0	0	1	0	0	30	108	4	5	4457	5	ABCA12	2	215855600	Nonsense_Mutation	SNP	A	TCGA-C5-A1BL-01A-11D-A13W-08	36214533	215855600	27343773	40	1050										
DOCK10	55619	genome.wustl.edu	37	chr2	225662651	225662651	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtatcaaagacccttttcatCaatgaattttgacagtcaca	5	9	4	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:225662651C>G	ENST00000258390.7	-	42	4609	c.4542G>C	c.(4540-4542)ttG>ttC	p.L1514F	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1508F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1514					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCCTTTTCATCAATGAATTTT	0.368																																																	0													91	90	90					2																	225662651		1890	4120	6010	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4542G>C	2.37:g.225662651C>G	ENSP00000258390:p.Leu1514Phe		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1514F	ENST00000258390.7	37	c.4542	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785096	0.49997	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.61158	3.53;0.13	5.95	1.06	0.20224	.	0.412070	0.25958	N	0.027202	T	0.58949	0.2158	M	0.76838	2.35	0.34225	D	0.675859	P;B;P;P	0.43938	0.549;0.177;0.586;0.822	B;B;B;P	0.48901	0.145;0.06;0.261;0.594	T	0.64002	-0.6509	10	0.87932	D	0	.	2.1673	0.03840	0.1218:0.4892:0.1243:0.2646	.	1514;368;1508;176	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	F	1508;1514;52	ENSP00000386694:L1508F;ENSP00000258390:L1514F	ENSP00000258390:L1514F	L	-	3	2	DOCK10	225370895	1.000000	0.71417	0.549000	0.28204	0.993000	0.82548	1.950000	0.40323	-0.082000	0.12640	0.655000	0.94253	TTG	DOCK10	-	superfamily_ARM-type_fold		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225662651	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	0.986	G	G	225662651	C	G	225662651	3	3	10	1	0	0	0	0	1	0	0	0	4695	825	29	1	2078	1	DOCK10	2	225662651	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	9807051	225662651	17536722	41	1051										
SUMF1	285362	genome.wustl.edu	37	chr3	4458918	4458918	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gctgcagtttgttgccccagGggaaaagtctgtcagaagag	14	8	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:4458918G>C	ENST00000272902.5	-	6	769	c.734C>G	c.(733-735)cCc>cGc	p.P245R	SUMF1_ENST00000383843.5_Missense_Mutation_p.P220R|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.P245R|SUMF1_ENST00000534863.1_Missense_Mutation_p.P245R	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	245					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		GTTGCCCCAGGGGAAAAGTCT	0.498																																																	0													99	91	94					3																	4458918		2203	4300	6503	SO:0001583	missense	285362			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.734C>G	3.37:g.4458918G>C	ENSP00000272902:p.Pro245Arg		B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.P245R	ENST00000272902.5	37	c.734	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.266372	0.95399	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000405420	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	5.81	5.81	0.92471	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.091794	0.85682	D	0.000000	D	0.99111	0.9694	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99379	1.0922	10	0.72032	D	0.01	-16.319	18.854	0.92244	0.0:0.0:1.0:0.0	.	220;245;245	G5E9B0;E9PGL0;Q8NBK3	.;.;SUMF1_HUMAN	R	245;245;245;220;245	ENSP00000440421:P245R;ENSP00000272902:P245R;ENSP00000373355:P220R;ENSP00000384977:P245R	ENSP00000272902:P245R	P	-	2	0	SUMF1	4433918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.746000	0.94184	0.655000	0.94253	CCC	SUMF1	-	pfam_FGE_dom,superfamily_C-type_lectin_fold		0.498	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	HGNC	protein_coding	OTTHUMT00000206591.2	G	NM_182760		4458918	-1	no_errors	ENST00000448413	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4458918	G	C	4458918	3	2	10	1	0	0	0	0	1	0	0	0	15415	1232	43	4	406	4	SUMF1	3	4458918	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		4458918	193563512	42	1052										
OXTR	5021	genome.wustl.edu	37	chr3	8809033	8809033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gcacacgatgaaggccagcaCgatgatgaaagtcatcttga	11	9	2	4	rs144814761		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:8809033C>T	ENST00000316793.3	-	3	1465	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	281					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	AAGGCCAGCACGATGATGAAA	0.627													C|||	1	0.000199681	0	0	5008	,	,		17422	0		0.001	False		,,,				2504	0																0								C	MET/VAL	0,4406		0,0,2203	44	38	40		841	5	1	3	dbSNP_134	40	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OXTR	NM_000916.3	21	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	281/390	8809033	4,13002	2203	4300	6503	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.841G>A	3.37:g.8809033C>T	ENSP00000324270:p.Val281Met		Q15071	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.V281M	ENST00000316793.3	37	c.841	CCDS2570.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591425	0.86851	0.0	4.65E-4	ENSG00000180914	ENST00000316793	T	0.74315	-0.83	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88730	0.3236	10	0.87932	D	0	-38.5784	17.1817	0.86857	0.0:1.0:0.0:0.0	.	281	P30559	OXYR_HUMAN	M	281	ENSP00000324270:V281M	ENSP00000324270:V281M	V	-	1	0	OXTR	8784033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.990000	0.70595	2.466000	0.83321	0.561000	0.74099	GTG	OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	C			8809033	-1	no_errors	ENST00000316793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8809033	C	T	8809033	3	4	10	1	0	0	0	0	1	0	0	0	11362	536	19	2	336	2	OXTR	3	8809033	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	4350115	8809033	189213397	43	1053										
MYRIP	25924	genome.wustl.edu	37	chr3	40223858	40223858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agagtgtggacaggctggatGaaacaagtaactgttttaag	13	4	0	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:40223858G>A	ENST00000302541.6	+	9	1363	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	MYRIP_ENST00000425621.1_Missense_Mutation_p.E341K|MYRIP_ENST00000539167.1_Missense_Mutation_p.E154K|MYRIP_ENST00000396217.3_Missense_Mutation_p.E252K|MYRIP_ENST00000444716.1_Missense_Mutation_p.E341K|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	341	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGCTGGATGAAACAAGTAA	0.527																																																	0													89	72	78					3																	40223858		2203	4300	6503	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1021G>A	3.37:g.40223858G>A	ENSP00000301972:p.Glu341Lys		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.E341K	ENST00000302541.6	37	c.1021	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709043	0.68615	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.27	1.42	0.22433	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.671752	0.14946	N	0.289229	T	0.18676	0.0448	L	0.39898	1.24	0.09310	N	1	P;P;B	0.45044	0.849;0.465;0.101	B;B;B	0.40702	0.338;0.085;0.096	T	0.09818	-1.0657	9	.	.	.	.	6.5821	0.22600	0.1581:0.279:0.5629:0.0	.	252;341;341	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	K	341;341;341;252;154	ENSP00000398665:E341K;ENSP00000301972:E341K;ENSP00000389323:E341K;ENSP00000379519:E252K;ENSP00000438297:E154K	.	E	+	1	0	MYRIP	40198862	0.117000	0.22190	0.001000	0.08648	0.979000	0.70002	0.819000	0.27308	-0.018000	0.14079	0.655000	0.94253	GAA	MYRIP	-	pfam_Myrip/Melanophilin		0.527	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	G	NM_015460		40223858	1	no_errors	ENST00000302541	ensembl	human	known	70_37	missense	SNP	0.064	A	A	40223858	G	A	40223858	3	1	10	1	0	0	0	0	1	0	0	0	10123	1291	45	1	1051	1	MYRIP	3	40223858	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	31414825	40223858	157798572	44	1054										
FBXW12	285231	genome.wustl.edu	37	chr3	48423302	48423302	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggaccatacttgttactcttCagcatcactggcttcctgct	7	13	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:48423302C>T	ENST00000296438.5	+	9	1284	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FBXW12_ENST00000445170.1_Silent_p.F347F|FBXW12_ENST00000415155.1_Silent_p.F296F|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000436231.1_Silent_p.F209F	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	366										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTTACTCTTCAGCATCACTG	0.473																																																	0													160	136	144					3																	48423302		2203	4300	6503	SO:0001819	synonymous_variant	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1098C>T	3.37:g.48423302C>T			E9PG36|Q494Y9|Q494Z0	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F366	ENST00000296438.5	37	c.1098	CCDS2764.1	3																																																																																			FBXW12	-	superfamily_Quino_amine_DH_bsu		0.473	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	C	NM_207102		48423302	1	no_errors	ENST00000296438	ensembl	human	known	70_37	silent	SNP	0.335	T	T	48423302	C	T	48423302	2	4	10	1	0	0	0	0	0	0	0	1	5783	825	29	1		1	FBXW12	3	48423302	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	8199444	48423302	149599128	45	1055										
RRP9	9136	genome.wustl.edu	37	chr3	51969651	51969651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgccacattccacaccttcaCggagcgatcgtgggatgtgc	11	13	1	0	rs147742914		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:51969651C>T	ENST00000232888.6	-	9	866	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	265					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CACACCTTCACGGAGCGATCG	0.592																																																	0								C	MET/VAL	0,4406		0,0,2203	283	186	219		793	4.7	1	3	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	missense	RRP9	NM_004704.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	265/476	51969651	1,13005	2203	4300	6503	SO:0001583	missense	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.793G>A	3.37:g.51969651C>T	ENSP00000232888:p.Val265Met		B2R996|Q8IZ30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V265M	ENST00000232888.6	37	c.793	CCDS2837.1	3	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097016	0.56075	0.0	1.16E-4	ENSG00000114767	ENST00000232888	T	0.67345	-0.26	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.128930	0.53938	D	0.000058	D	0.83055	0.5171	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86450	0.1772	10	0.87932	D	0	-20.5506	17.2181	0.86950	0.0:1.0:0.0:0.0	.	265	O43818	U3IP2_HUMAN	M	265	ENSP00000232888:V265M	ENSP00000232888:V265M	V	-	1	0	RRP9	51944691	0.998000	0.40836	0.995000	0.50966	0.339000	0.28857	3.767000	0.55288	2.166000	0.68216	0.561000	0.74099	GTG	RRP9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.592	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	C	NM_004704		51969651	-1	no_errors	ENST00000232888	ensembl	human	known	70_37	missense	SNP	0.999	T	T	51969651	C	T	51969651	3	4	10	1	0	0	0	0	1	0	0	0	13721	536	19	2	662	2	RRP9	3	51969651	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	3546349	51969651	146052779	46	1056										
PTPRG	5793	genome.wustl.edu	37	chr3	62263226	62263226	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttttgtcttcccaactgaagGgctattataggagcaatgaa	9	7	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:62263226G>A	ENST00000474889.1	+	26	4014	c.3637G>A	c.(3637-3639)Ggc>Agc	p.G1213S	PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Splice_Site_p.G1184S|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1213	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAACTGAAGGGCTATTATAG	0.338																																																	0													70	71	71					3																	62263226		2203	4300	6503	SO:0001630	splice_region_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3637-1G>A	3.37:g.62263226G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.G1213S	ENST00000474889.1	37	c.3637	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.105160	0.94245	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.14766	2.48;2.48	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.098157	0.64402	D	0.000001	T	0.41143	0.1146	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.992	T	0.04752	-1.0929	9	.	.	.	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	459;1184;1213	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1213;1184	ENSP00000418112:G1213S;ENSP00000295874:G1184S	.	G	+	1	0	PTPRG	62238266	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.823000	0.99369	2.740000	0.93945	0.650000	0.86243	GGC	PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.338	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841	Missense_Mutation	62263226	1	no_errors	ENST00000474889	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62263226	G	A	62263226	5	1	10	1	0	0	0	0	0	0	1	0	12832	1246	43	4	3739	4	PTPRG	3	62263226	Splice_Site	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	10293575	62263226	135759204	47	1057										
HTR1F	3355	genome.wustl.edu	37	chr3	88040735	88040735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	caagcatgagaaatcttggaGaaggcaaaagatctcaggta	11	6	2	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:88040735G>A	ENST00000319595.4	+	1	890	c.836G>A	c.(835-837)aGa>aAa	p.R279K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	279					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAATCTTGGAGAAGGCAAAAG	0.388																																																	0													68	74	72					3																	88040735		2203	4300	6503	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.836G>A	3.37:g.88040735G>A	ENSP00000322924:p.Arg279Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R279K	ENST00000319595.4	37	c.836	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284451	0.40394	.	.	ENSG00000179097	ENST00000319595	T	0.35605	1.3	5.46	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.337940	0.30771	N	0.008907	T	0.18425	0.0442	N	0.12637	0.245	0.32463	N	0.543866	B	0.06786	0.001	B	0.11329	0.006	T	0.18524	-1.0334	10	0.16420	T	0.52	.	9.359	0.38184	0.1728:0.0:0.8272:0.0	.	279	P30939	5HT1F_HUMAN	K	279	ENSP00000322924:R279K	ENSP00000322924:R279K	R	+	2	0	HTR1F	88123425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.763000	0.62257	1.316000	0.45131	0.557000	0.71058	AGA	HTR1F	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt		0.388	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	G	NM_000866		88040735	1	no_errors	ENST00000319595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88040735	G	A	88040735	3	1	10	1	0	0	0	0	1	0	0	0	7460	942	33	1	838	1	HTR1F	3	88040735	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	25777509	88040735	109981695	48	1058										
OR5H6	79295	genome.wustl.edu	37	chr3	97983880	97983880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gaagtctatcaaagggatacGaaaagctgtctccacctgtg	10	9	3	0	rs145676438	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:97983880G>A	ENST00000383696.2	+	1	793	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R251Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGGGATACGAAAAGCTGTC	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)						G	GLN/ARG	1,4405		0,1,2202	51	51	51		752	-3.8	0	3	dbSNP_134	51	2,8596		0,2,4297	no	missense	OR5H6	NM_001005479.1	43	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign	251/326	97983880	3,13001	2203	4299	6502	SO:0001583	missense	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.752G>A	3.37:g.97983880G>A	ENSP00000373196:p.Arg251Gln		Q6IF88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R251Q	ENST00000383696.2	37	c.752	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	6.714	0.500465	0.12822	2.27E-4	2.33E-4	ENSG00000230301	ENST00000383696	T	0.00130	8.69	2.19	-3.85	0.04243	GPCR, rhodopsin-like superfamily (1);	1.311320	0.05197	N	0.504292	T	0.00109	0.0003	L	0.37507	1.11	0.09310	N	1	P	0.41366	0.747	B	0.37387	0.248	T	0.30297	-0.9983	10	0.17369	T	0.5	.	8.073	0.30699	0.5394:0.0:0.4606:0.0	.	251	Q8NGV6	OR5H6_HUMAN	Q	251	ENSP00000373196:R251Q	ENSP00000373196:R251Q	R	+	2	0	OR5H6	99466570	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-1.703000	0.01900	-1.284000	0.02390	-1.441000	0.01070	CGA	OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	G			97983880	1	no_errors	ENST00000383696	ensembl	human	known	70_37	missense	SNP	0.001	A	A	97983880	G	A	97983880	3	1	10	1	0	0	0	0	1	0	0	0	11187	1058	37	1	754	1	OR5H6	3	97983880	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	9943145	97983880	100038550	49	1059										
GPR156	165829	genome.wustl.edu	37	chr3	119886955	119886955	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggagtccttcccaggcccctCaaggctttgtgcatatgagg	12	12	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:119886955C>G	ENST00000464295.1	-	10	1814	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	GPR156_ENST00000315843.3_Missense_Mutation_p.E457Q|GPR156_ENST00000461057.1_Missense_Mutation_p.E453Q			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	457						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGCCCCTCAAGGCTTTGT	0.537																																																	0													40	42	41					3																	119886955		2203	4300	6503	SO:0001583	missense	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1369G>C	3.37:g.119886955C>G	ENSP00000417261:p.Glu457Gln		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.E457Q	ENST00000464295.1	37	c.1369	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100885	0.20552	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.21543	2.0;2.0;2.0	5.65	-3.95	0.04118	.	1.265410	0.04986	N	0.466526	T	0.14743	0.0356	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.32107	-0.9919	9	.	.	.	0.481	7.1605	0.25661	0.0:0.2551:0.3215:0.4234	.	453;457	E9PFZ4;Q8NFN8	.;GP156_HUMAN	Q	457;457;453	ENSP00000417261:E457Q;ENSP00000324553:E457Q;ENSP00000418758:E453Q	.	E	-	1	0	GPR156	121369645	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.651000	0.00857	-0.613000	0.05694	-0.136000	0.14681	GAG	GPR156	-	NULL		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	C	NM_153002		119886955	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	missense	SNP	0.000	G	G	119886955	C	G	119886955	3	3	10	1	0	0	0	0	1	0	0	0	6680	835	29	1	1079	1	GPR156	3	119886955	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	21903075	119886955	78135475	50	1060										
CCDC14	64770	genome.wustl.edu	37	chr3	123634465	123634465	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgttgaagttgtttatcatGaatgttcaagagtgatttgg	11	2	2	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:123634465G>A	ENST00000488653.2	-	13	2113	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y	CCDC14_ENST00000489746.1_Missense_Mutation_p.H475Y|CCDC14_ENST00000310351.4_Missense_Mutation_p.H515Y|CCDC14_ENST00000433542.2_Missense_Mutation_p.H634Y|CCDC14_ENST00000485727.1_Missense_Mutation_p.H475Y|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	675					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGTTTATCATGAATGTTCAAG	0.408																																																	0													108	114	112					3																	123634465		2203	4300	6503	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2023C>T	3.37:g.123634465G>A	ENSP00000420180:p.His675Tyr		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.H675Y	ENST00000488653.2	37	c.2023		3	.	.	.	.	.	.	.	.	.	.	G	5.289	0.238808	0.10023	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.32	1.69	0.24217	.	0.585592	0.17372	N	0.176654	T	0.11537	0.0281	N	0.03016	-0.435	0.25095	N	0.990828	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.34725	-0.9817	10	0.02654	T	1	.	7.025	0.24934	0.6453:0.0:0.3547:0.0	.	675;634;516	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	Y	675;515;475;475;634;656	ENSP00000420180:H675Y;ENSP00000312031:H515Y;ENSP00000418002:H475Y;ENSP00000418403:H475Y;ENSP00000395706:H634Y;ENSP00000386866:H656Y	ENSP00000312031:H515Y	H	-	1	0	CCDC14	125117155	0.988000	0.35896	0.985000	0.45067	0.832000	0.47134	0.331000	0.19733	0.478000	0.27488	-0.140000	0.14226	CAT	CCDC14	-	NULL		0.408	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		G	NM_022757		123634465	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.934	A	A	123634465	G	A	123634465	3	1	10	1	0	0	0	0	1	0	0	0	2778	1290	45	1	842	1	CCDC14	3	123634465	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3747510	123634465	74387965	51	1061										
PLXNA1	5361	genome.wustl.edu	37	chr3	126737155	126737155	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aggtgcgggcaggtggcttcGagttctcgccagggacactg	17	10	1	0	rs375219341		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:126737155G>T	ENST00000393409.2	+	19	3679	c.3679G>T	c.(3679-3681)Gag>Tag	p.E1227*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.E1204*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1227	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGTGGCTTCGAGTTCTCGCC	0.647																																																	0													36	37	37					3																	126737155		2197	4299	6496	SO:0001587	stop_gained	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3679G>T	3.37:g.126737155G>T	ENSP00000377061:p.Glu1227*			Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1227*	ENST00000393409.2	37	c.3679	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	41	9.113046	0.99069	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	4.18	3.29	0.37713	.	0.381624	0.22553	N	0.058580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.9937	0.58634	0.0:0.1637:0.8363:0.0	.	.	.	.	X	1227;1204	.	ENSP00000251772:E1204X	E	+	1	0	PLXNA1	128219845	1.000000	0.71417	0.954000	0.39281	0.688000	0.40055	5.367000	0.66127	0.938000	0.37419	0.467000	0.42956	GAG	PLXNA1	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.647	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126737155	1	no_errors	ENST00000393409	ensembl	human	known	70_37	nonsense	SNP	0.995	T	T	126737155	G	T	126737155	4	4	10	1	0	0	0	0	0	1	0	0	12143	1059	37	3	3753	3	PLXNA1	3	126737155	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3102690	126737155	71285275	52	1062										
MED12L	116931	genome.wustl.edu	37	chr3	150873999	150873999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agagcagttggccaagatttCtgacttttaccacatggcct	9	10	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:150873999C>G	ENST00000474524.1	+	5	646	c.608C>G	c.(607-609)tCt>tGt	p.S203C	MED12L_ENST00000422248.2_Missense_Mutation_p.S203C|MED12L_ENST00000273432.4_Missense_Mutation_p.S203C|MED12L_ENST00000309237.4_Missense_Mutation_p.S203C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	203						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAAGATTTCTGACTTTTAC	0.458																																																	0													103	99	101					3																	150873999		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.608C>G	3.37:g.150873999C>G	ENSP00000417235:p.Ser203Cys		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.S203C	ENST00000474524.1	37	c.608	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708531	0.68615	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.61040	0.45;0.45;0.34;0.14	4.78	4.78	0.61160	.	0.137564	0.48286	D	0.000199	T	0.56485	0.1988	N	0.19112	0.55	0.36140	D	0.846706	B;B;B;P	0.40875	0.32;0.38;0.32;0.731	B;B;B;P	0.49752	0.176;0.243;0.351;0.621	T	0.69087	-0.5238	10	0.87932	D	0	-7.1014	17.78	0.88520	0.0:1.0:0.0:0.0	.	203;203;203;203	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	C	203	ENSP00000403308:S203C;ENSP00000310760:S203C;ENSP00000417235:S203C;ENSP00000273432:S203C	ENSP00000273432:S203C	S	+	2	0	MED12L	152356689	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	7.366000	0.79548	2.350000	0.79820	0.557000	0.71058	TCT	MED12L	-	NULL		0.458	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		150873999	1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150873999	C	G	150873999	3	3	10	1	0	0	0	0	1	0	0	0	9452	913	32	1	626	1	MED12L	3	150873999	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	24136844	150873999	47148431	53	1063										
C3orf79	152118	genome.wustl.edu	37	chr3	153202446	153202446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tctgcctactcctgagctttCatccaagagaaatcagtgtt	7	11	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:153202446C>T	ENST00000446603.2	+	1	163	c.101C>T	c.(100-102)tCa>tTa	p.S34L	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	34										endometrium(1)|large_intestine(3)	4						CCTGAGCTTTCATCCAAGAGA	0.418																																																	0													284	269	274					3																	153202446		1918	4139	6057	SO:0001583	missense	152118			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.101C>T	3.37:g.153202446C>T	ENSP00000389475:p.Ser34Leu			Missense_Mutation	SNP	NULL	p.S34L	ENST00000446603.2	37	c.101	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846535	0.32606	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.66	2.78	0.32641	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.23396	N	0.997763	P	0.40107	0.703	B	0.40864	0.342	T	0.08576	-1.0715	8	0.87932	D	0	.	6.9513	0.24546	0.0:0.8762:0.0:0.1238	.	34	P0CE67	CC079_HUMAN	L	34	.	ENSP00000389475:S34L	S	+	2	0	C3orf79	154685136	0.070000	0.21116	0.943000	0.38184	0.777000	0.43975	0.205000	0.17356	1.117000	0.41842	0.655000	0.94253	TCA	C3orf79	-	NULL		0.418	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	HGNC	protein_coding	OTTHUMT00000356570.1	C	NM_001101337		153202446	1	no_errors	ENST00000446603	ensembl	human	known	70_37	missense	SNP	0.960	T	T	153202446	C	T	153202446	3	4	10	1	0	0	0	0	1	0	0	0	2251	838	29	1	103	1	C3orf79	3	153202446	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	2328447	153202446	44819984	54	1064										
KCNAB1	7881	genome.wustl.edu	37	chr3	156192551	156192551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggctccctccagaggctgcaGctcgagtatgtggatgtggt	15	10	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:156192551G>A	ENST00000490337.1	+	8	664	c.600G>A	c.(598-600)caG>caA	p.Q200Q	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000302490.8_Silent_p.Q182Q|KCNAB1_ENST00000471742.1_Silent_p.Q189Q|KCNAB1_ENST00000497291.1_3'UTR	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	200					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGAGGCTGCAGCTCGAGTATG	0.428																																																	0													116	119	118					3																	156192551		2203	4300	6503	SO:0001819	synonymous_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.600G>A	3.37:g.156192551G>A			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.Q200	ENST00000490337.1	37	c.600	CCDS3174.1	3																																																																																			KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.428	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	G	NM_003471		156192551	1	no_errors	ENST00000490337	ensembl	human	known	70_37	silent	SNP	1.000	A	A	156192551	G	A	156192551	2	1	10	1	0	0	0	0	0	0	0	1	8029	962	34	4		4	KCNAB1	3	156192551	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	2990105	156192551	41829879	55	1065										
SERPINI1	5274	genome.wustl.edu	37	chr3	167508190	167508190	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttctttcttgaaggagttttCaaacatggtaactgctaaag	8	6	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:167508190C>G	ENST00000295777.5	+	3	712	c.281C>G	c.(280-282)tCa>tGa	p.S94*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.S94*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	94					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AAGGAGTTTTCAAACATGGTA	0.363																																																	0													74	76	75					3																	167508190		2203	4300	6503	SO:0001587	stop_gained	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.281C>G	3.37:g.167508190C>G	ENSP00000295777:p.Ser94*		A8K217|D3DNP1|Q6AHZ4	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S94*	ENST00000295777.5	37	c.281	CCDS3203.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506980	0.85282	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	.	.	.	5.45	5.45	0.79879	.	0.169215	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2973	0.94128	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000295777:S94X	S	+	2	0	SERPINI1	168990884	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	4.589000	0.61006	2.552000	0.86080	0.650000	0.86243	TCA	SERPINI1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	HGNC	protein_coding	OTTHUMT00000351056.1	C			167508190	1	no_errors	ENST00000295777	ensembl	human	known	70_37	nonsense	SNP	0.995	G	G	167508190	C	G	167508190	4	3	10	1	0	0	0	0	0	1	0	0	14148	838	29	1	287	1	SERPINI1	3	167508190	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	11315639	167508190	30514240	56	1066										
ACTL6A	86	genome.wustl.edu	37	chr3	179294463	179294463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	actatgcagtgcagagaactCttccaagaaatgaatattga	8	7	1	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:179294463C>T	ENST00000429709.2	+	7	840	c.627C>T	c.(625-627)ctC>ctT	p.L209L	ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000450518.2_Silent_p.L167L|ACTL6A_ENST00000392662.1_Silent_p.L167L	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	209					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCAGAGAACTCTTCCAAGAAA	0.373																																																	0													147	155	152					3																	179294463		2203	4300	6503	SO:0001819	synonymous_variant	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.627C>T	3.37:g.179294463C>T			B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L209	ENST00000429709.2	37	c.627	CCDS3231.1	3																																																																																			ACTL6A	-	pfam_Actin-like,smart_Actin-like		0.373	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	C	NM_004301		179294463	1	no_errors	ENST00000429709	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179294463	C	T	179294463	2	4	10	1	0	0	0	0	0	0	0	1	198	900	32	1		1	ACTL6A	3	179294463	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	11786273	179294463	18727967	57	1067										
HTT	3064	genome.wustl.edu	37	chr4	3136143	3136143	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccagaactgtgtcatgagtCtctgcagcagcagctacagt	10	11	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:3136143C>G	ENST00000355072.5	+	19	2654	c.2509C>G	c.(2509-2511)Ctc>Gtc	p.L837V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	837					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTCATGAGTCTCTGCAGCAG	0.522																																																	0													165	155	158					4																	3136143		2097	4255	6352	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2509C>G	4.37:g.3136143C>G	ENSP00000347184:p.Leu837Val		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L837V	ENST00000355072.5	37	c.2509	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004527	0.35320	.	.	ENSG00000197386	ENST00000355072	T	0.64260	-0.09	5.0	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.079119	0.49305	D	0.000151	T	0.53514	0.1801	L	0.61387	1.9	0.48975	D	0.999731	B	0.28378	0.209	B	0.22152	0.038	T	0.59947	-0.7358	10	0.72032	D	0.01	.	6.5728	0.22549	0.0:0.7777:0.0:0.2223	.	837	P42858	HD_HUMAN	V	837	ENSP00000347184:L837V	ENSP00000347184:L837V	L	+	1	0	HTT	3105941	0.990000	0.36364	0.233000	0.24025	0.965000	0.64279	1.440000	0.35024	2.463000	0.83235	0.585000	0.79938	CTC	HTT	-	superfamily_ARM-type_fold		0.522	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	C	NM_002111		3136143	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	0.969	G	G	3136143	C	G	3136143	3	3	10	1	0	0	0	0	1	0	0	0	7477	913	32	1	2583	1	HTT	4	3136143	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		3136143	188018133	58	1068										
ENAM	10117	genome.wustl.edu	37	chr4	71509510	71509510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aacagaaatatctgggatcaGgcaacacatttacaaaaagc	7	8	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:71509510G>C	ENST00000396073.3	+	9	2648	c.2367G>C	c.(2365-2367)caG>caC	p.Q789H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	789					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCTGGGATCAGGCAACACATT	0.463																																																	0													85	88	87					4																	71509510		2203	4300	6503	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2367G>C	4.37:g.71509510G>C	ENSP00000379383:p.Gln789His		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.Q789H	ENST00000396073.3	37	c.2367	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	G	7.601	0.672762	0.14776	.	.	ENSG00000132464	ENST00000396073	T	0.35048	1.33	5.98	2.11	0.27256	.	0.494819	0.18881	N	0.128568	T	0.52677	0.1749	M	0.77406	2.37	0.22171	N	0.999311	D	0.89917	1.0	D	0.73708	0.981	T	0.32402	-0.9908	10	0.48119	T	0.1	-0.0469	4.9782	0.14151	0.2531:0.1542:0.5926:0.0	.	789	Q9NRM1	ENAM_HUMAN	H	789	ENSP00000379383:Q789H	ENSP00000379383:Q789H	Q	+	3	2	ENAM	71728374	0.051000	0.20477	0.513000	0.27749	0.021000	0.10359	0.586000	0.23894	0.871000	0.35750	-0.136000	0.14681	CAG	ENAM	-	NULL		0.463	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	G	NM_031889		71509510	1	no_errors	ENST00000396073	ensembl	human	known	70_37	missense	SNP	0.488	C	C	71509510	G	C	71509510	3	2	10	1	0	0	0	0	1	0	0	0	5124	991	35	4	2397	4	ENAM	4	71509510	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	68373367	71509510	119644766	59	1069										
FRAS1	80144	genome.wustl.edu	37	chr4	79368028	79368028	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttgtattgacaaaaaagcctGaccacggtagggcacgaact	10	9	0	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:79368028G>A	ENST00000264895.6	+	43	6444	c.6004G>A	c.(6004-6006)Gac>Aac	p.D2002N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2002					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAAAAAGCCTGACCACGGTAG	0.428																																																	0													43	44	44					4																	79368028		1908	4112	6020	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6004G>A	4.37:g.79368028G>A	ENSP00000264895:p.Asp2002Asn		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.D2002N	ENST00000264895.6	37	c.6004	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	6.055	0.378482	0.11466	.	.	ENSG00000138759	ENST00000264895	T	0.29142	1.58	5.57	2.88	0.33553	.	0.571931	0.19685	N	0.108402	T	0.16811	0.0404	L	0.38531	1.155	0.80722	D	1	P	0.40000	0.698	B	0.35550	0.205	T	0.10451	-1.0629	10	0.22109	T	0.4	.	2.1876	0.03891	0.2131:0.1347:0.513:0.1392	.	2002	E9PHH6	.	N	2002	ENSP00000264895:D2002N	ENSP00000264895:D2002N	D	+	1	0	FRAS1	79587052	0.016000	0.18221	0.985000	0.45067	0.078000	0.17371	0.893000	0.28336	0.294000	0.22547	0.650000	0.86243	GAC	FRAS1	-	NULL		0.428	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79368028	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.971	A	A	79368028	G	A	79368028	3	1	10	1	0	0	0	0	1	0	0	0	6060	1290	45	1	6249	1	FRAS1	4	79368028	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	7858518	79368028	111786248	60	1070										
WDFY3	23001	genome.wustl.edu	37	chr4	85731460	85731460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	caactttcctaaaaactgttCttgaacgatggctttctcga	6	10	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:85731460C>G	ENST00000295888.4	-	14	2332	c.1925G>C	c.(1924-1926)aGa>aCa	p.R642T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R642T|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	642					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAAAACTGTTCTTGAACGATG	0.393																																																	0													48	43	45					4																	85731460		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1925G>C	4.37:g.85731460C>G	ENSP00000295888:p.Arg642Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R642T	ENST00000295888.4	37	c.1925	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.174976	0.94807	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.54479	0.57;0.57	5.73	5.73	0.89815	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.973;0.998	T	0.75434	-0.3319	10	0.87932	D	0	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	642;642	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	642	ENSP00000318466:R642T;ENSP00000295888:R642T	ENSP00000295888:R642T	R	-	2	0	WDFY3	85950484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.380000	0.79704	2.692000	0.91855	0.591000	0.81541	AGA	WDFY3	-	superfamily_ARM-type_fold		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85731460	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85731460	C	G	85731460	3	3	10	1	0	0	0	0	1	0	0	0	17301	913	32	1	8918	1	WDFY3	4	85731460	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	6363432	85731460	105422816	61	1071										
ADH1B	125	genome.wustl.edu	37	chr4	100237128	100237128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggcagactttctccaggggcGaggctgcatcaattttggcc	13	11	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:100237128G>T	ENST00000305046.8	-	5	561	c.494C>A	c.(493-495)tCg>tAg	p.S165*	ADH1B_ENST00000394887.3_Nonsense_Mutation_p.S125*|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	165					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCCAGGGGCGAGGCTGCATC	0.527																																																	0													145	134	138					4																	100237128		2203	4300	6503	SO:0001587	stop_gained	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.494C>A	4.37:g.100237128G>T	ENSP00000306606:p.Ser165*		A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Nonsense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.S165*	ENST00000305046.8	37	c.494	CCDS34033.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496483	0.85069	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	.	.	.	3.96	3.96	0.45880	.	0.301664	0.35407	N	0.003237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.5549	16.0245	0.80532	0.0:0.0:1.0:0.0	.	.	.	.	X	165;125;152	.	ENSP00000306606:S165X	S	-	2	0	ADH1B	100456151	0.998000	0.40836	0.363000	0.25875	0.102000	0.19082	8.876000	0.92379	1.722000	0.51474	0.561000	0.74099	TCG	ADH1B	-	superfamily_GroES-like,smart_PKS_ER		0.527	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1B	HGNC	protein_coding	OTTHUMT00000364853.1	G	NM_000668		100237128	-1	no_errors	ENST00000305046	ensembl	human	known	70_37	nonsense	SNP	0.989	T	T	100237128	G	T	100237128	4	4	10	1	0	0	0	0	0	1	0	0	308	1059	37	3	653	3	ADH1B	4	100237128	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	14505668	100237128	90917148	62	1072										
PITX2	5308	genome.wustl.edu	37	chr4	111542526	111542526	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctgctggcttttatctttctCtgaaaacgaaacacacacac	5	12	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:111542526C>T	ENST00000354925.2	-	6	1890		c.e6-1		PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Splice_Site|PITX2_ENST00000306732.3_Splice_Site|PITX2_ENST00000394598.2_Splice_Site|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Splice_Site	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTATCTTTCTCTGAAAACGAA	0.597																																																	0			GRCh37	CS004085|CS044764	PITX2	S							53	51	52					4																	111542526		2203	4300	6503	SO:0001630	splice_region_variant	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.185-1G>A	4.37:g.111542526C>T			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Splice_Site	SNP	-	e2-1	ENST00000354925.2	37	c.206-1	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689764	0.88735	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4788	0.95000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITX2	111761975	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.374000	0.79633	2.676000	0.91093	0.655000	0.94253	.	PITX2	-	-		0.597	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	C		Intron	111542526	-1	no_errors	ENST00000306732	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	111542526	C	T	111542526	5	4	10	1	0	0	0	0	0	0	1	0	11979	927	32	1	777	1	PITX2	4	111542526	Splice_Site	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	11305398	111542526	79611750	63	1073										
FAT4	79633	genome.wustl.edu	37	chr4	126411397	126411397	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cctgtcttggcgtcctctgtCctcaggggaaggtgtgcaaa	13	11	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:126411397C>G	ENST00000394329.3	+	17	13433	c.13420C>G	c.(13420-13422)Cct>Gct	p.P4474A	FAT4_ENST00000335110.5_Missense_Mutation_p.P2715A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4474					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGTCCTCTGTCCTCAGGGGAA	0.612																																																	0													86	81	83					4																	126411397		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13420C>G	4.37:g.126411397C>G	ENSP00000377862:p.Pro4474Ala		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4474A	ENST00000394329.3	37	c.13420	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371749	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76839	-0.83;-1.05	5.17	5.17	0.71159	.	0.615519	0.12441	U	0.468720	T	0.63757	0.2538	N	0.17564	0.495	0.46458	D	0.999051	B;B;B	0.13594	0.008;0.005;0.008	B;B;B	0.14578	0.011;0.005;0.011	T	0.55309	-0.8161	10	0.14252	T	0.57	.	14.1198	0.65180	0.0:0.8377:0.1623:0.0	.	2715;4474;4473	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	4474;2715	ENSP00000377862:P4474A;ENSP00000335169:P2715A	ENSP00000335169:P2715A	P	+	1	0	FAT4	126630847	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.850000	0.62889	2.395000	0.81488	0.561000	0.74099	CCT	FAT4	-	NULL		0.612	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126411397	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	G	G	126411397	C	G	126411397	3	3	10	1	0	0	0	0	1	0	0	0	5710	855	30	1	13486	1	FAT4	4	126411397	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	14868871	126411397	64742879	64	1074										
PCDH18	54510	genome.wustl.edu	37	chr4	138453180	138453180	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttgcccagtacatcgtggttGaaagatactatcagaagtgc	10	8	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:138453180G>A	ENST00000344876.4	-	1	449	c.63C>T	c.(61-63)ttC>ttT	p.F21F	PCDH18_ENST00000412923.2_Silent_p.F21F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	21					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATCGTGGTTGAAAGATACTA	0.383																																																	0													130	130	130					4																	138453180		2203	4300	6503	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.63C>T	4.37:g.138453180G>A			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F21	ENST00000344876.4	37	c.63	CCDS34064.1	4																																																																																			PCDH18	-	NULL		0.383	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	G	NM_019035		138453180	-1	no_errors	ENST00000344876	ensembl	human	known	70_37	silent	SNP	0.100	A	A	138453180	G	A	138453180	2	1	10	1	0	0	0	0	0	0	0	1	11537	1281	45	1		1	PCDH18	4	138453180	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	12041783	138453180	52701096	65	1075										
RAPGEF2	9693	genome.wustl.edu	37	chr4	160253725	160253725	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cagatcttgctgtagatgtaGaacaggtgataggacttgaa	12	5	1	5			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:160253725G>C	ENST00000264431.4	+	11	1947	c.1528G>C	c.(1528-1530)Gaa>Caa	p.E510Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	510					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGTAGATGTAGAACAGGTGAT	0.423																																																	0													95	88	91					4																	160253725		1892	4121	6013	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1528G>C	4.37:g.160253725G>C	ENSP00000264431:p.Glu510Gln		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E510Q	ENST00000264431.4	37	c.1528	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.166002|5.166002	0.94768|0.94768	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000512056	T|.	0.39229|.	1.09|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73024|0.73024	0.3534|0.3534	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.64144|.	0.922|.	T|T	0.69932|0.69932	-0.5011|-0.5011	10|5	0.39692|.	T|.	0.17|.	.|.	19.4675|19.4675	0.94948|0.94948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	510|.	Q9Y4G8|.	RPGF2_HUMAN|.	Q|T	510|147	ENSP00000264431:E510Q|.	ENSP00000264431:E510Q|.	E|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160473175|160473175	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	9.510000|9.510000	0.98004|0.98004	2.602000|2.602000	0.87976|0.87976	0.655000|0.655000	0.94253|0.94253	GAA|AGA	RAPGEF2	-	superfamily_Ras_GEF_dom		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	G	NM_014247		160253725	1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160253725	G	C	160253725	3	2	10	1	0	0	0	0	1	0	0	0	13074	943	33	1	1570	1	RAPGEF2	4	160253725	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	21800545	160253725	30900551	66	1076										
PALLD	23022	genome.wustl.edu	37	chr4	169433387	169433387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggggccaggcattgctaccaGgacaaccaggacttggcagt	14	11	0	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:169433387G>A	ENST00000505667.1	+	2	905	c.732G>A	c.(730-732)caG>caA	p.Q244Q	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Silent_p.Q121Q|PALLD_ENST00000261509.6_Silent_p.Q244Q			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	244					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATTGCTACCAGGACAACCAGG	0.602									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													85	82	83					4																	169433387		2203	4300	6503	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.732G>A	4.37:g.169433387G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q244	ENST00000505667.1	37	c.732	CCDS54818.1	4																																																																																			PALLD	-	NULL		0.602	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	G	NM_016081		169433387	1	no_errors	ENST00000261509	ensembl	human	known	70_37	silent	SNP	0.000	A	A	169433387	G	A	169433387	2	1	10	1	0	0	0	0	0	0	0	1	11431	991	35	4		4	PALLD	4	169433387	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	9179662	169433387	21720889	67	1077										
FAT1	2195	genome.wustl.edu	37	chr4	187540003	187540003	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aggatgacattcacggtgcaGaaagcaacttttcctccagc	9	11	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:187540003G>A	ENST00000441802.2	-	10	7946	c.7737C>T	c.(7735-7737)ttC>ttT	p.F2579F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2579	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACGGTGCAGAAAGCAACTT	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													53	51	52					4																	187540003		1947	4144	6091	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7737C>T	4.37:g.187540003G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F2579	ENST00000441802.2	37	c.7737	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187540003	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	silent	SNP	1.000	A	A	187540003	G	A	187540003	2	1	10	1	0	0	0	0	0	0	0	1	5707	933	33	1		1	FAT1	4	187540003	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	18106616	187540003	3614273	68	1078										
TRIML1	339976	genome.wustl.edu	37	chr4	189061706	189061706	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aactccaggaaatcctgaatCttttgcgtgtaaggagaaag	10	7	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:189061706C>G	ENST00000332517.3	+	2	573	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	145					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AATCCTGAATCTTTTGCGTGT	0.478																																					Melanoma(31;213 1036 16579 23968 32372)												0													151	143	146					4																	189061706		2203	4300	6503	SO:0001583	missense	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.433C>G	4.37:g.189061706C>G	ENSP00000327738:p.Leu145Val		Q96BE5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L145V	ENST00000332517.3	37	c.433	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	C	0	-2.847323	0.00067	.	.	ENSG00000184108	ENST00000332517	T	0.61980	0.06	4.74	-1.41	0.08941	.	1.522490	0.03999	N	0.296240	T	0.49779	0.1577	L	0.37561	1.115	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.22417	-1.0217	10	0.17369	T	0.5	-1.3635	8.2063	0.31456	0.6079:0.3061:0.0:0.086	.	145	Q8N9V2	TRIML_HUMAN	V	145	ENSP00000327738:L145V	ENSP00000327738:L145V	L	+	1	0	TRIML1	189298700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.117000	0.10708	-0.279000	0.09167	-0.745000	0.03516	CTT	TRIML1	-	NULL		0.478	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	C	NM_178556		189061706	1	no_errors	ENST00000332517	ensembl	human	known	70_37	missense	SNP	0.000	G	G	189061706	C	G	189061706	3	3	10	1	0	0	0	0	1	0	0	0	16581	913	32	1	439	1	TRIML1	4	189061706	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	1521703	189061706	2092570	69	1079										
TRIML1	339976	genome.wustl.edu	37	chr4	189068346	189068346	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cctgtgtgtaaggttggtgtCttcctggactatgaatctgg	13	7	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:189068346C>T	ENST00000332517.3	+	6	1367	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	409	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGTTGGTGTCTTCCTGGACT	0.488																																					Melanoma(31;213 1036 16579 23968 32372)												0													155	139	144					4																	189068346		2203	4300	6503	SO:0001819	synonymous_variant	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1227C>T	4.37:g.189068346C>T			Q96BE5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.V409	ENST00000332517.3	37	c.1227	CCDS3851.1	4																																																																																			TRIML1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	C	NM_178556		189068346	1	no_errors	ENST00000332517	ensembl	human	known	70_37	silent	SNP	0.436	T	T	189068346	C	T	189068346	2	4	10	1	0	0	0	0	0	0	0	1	16581	900	32	1		1	TRIML1	4	189068346	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	6640	189068346	2085930	70	1080										
PCDHA13	56136	genome.wustl.edu	37	chr5	140263677	140263677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggctacaatgcgtggctttcGtatgaattgcagctggcggc	14	9	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr5:140263677G>A	ENST00000289272.2	+	1	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S608S|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)												0													68	72	71					5																	140263677		2202	4298	6500	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1824G>A	5.37:g.140263677G>A			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S608	ENST00000289272.2	37	c.1824	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140263677	1	no_errors	ENST00000289272	ensembl	human	known	70_37	silent	SNP	0.009	A	A	140263677	G	A	140263677	2	1	10	1	0	0	0	0	0	0	0	1	11547	1132	40	2		2	PCDHA13	5	140263677	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		140263677	40651583	71	1081										
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744563	140744563	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gatggcggagacccggtactCtccggcaccacgcacatccg	12	16	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr5:140744563C>G	ENST00000518069.1	+	1	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGGTACTCTCCGGCACCA	0.567																																																	0													71	72	71					5																	140744563		2064	4206	6270	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.666C>G	5.37:g.140744563C>G			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L222	ENST00000518069.1	37	c.666	CCDS54925.1	5																																																																																			PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	C	NM_018918		140744563	1	no_errors	ENST00000518069	ensembl	human	known	70_37	silent	SNP	0.243	G	G	140744563	C	G	140744563	2	3	10	1	0	0	0	0	0	0	0	1	11581	900	32	1		1	PCDHGA5	5	140744563	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	480886	140744563	40170697	72	1082										
DSP	1832	genome.wustl.edu	37	chr6	7581095	7581095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgaaggaccaggatatcacgCggttccagaactctctgaaa	10	10	2	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:7581095C>T	ENST00000379802.3	+	23	5013	c.4672C>T	c.(4672-4674)Cgg>Tgg	p.R1558W	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1558	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGATATCACGCGGTTCCAGAA	0.517																																																	0													80	85	83					6																	7581095		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4672C>T	6.37:g.7581095C>T	ENSP00000369129:p.Arg1558Trp		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1558W	ENST00000379802.3	37	c.4672	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216342	0.39201	.	.	ENSG00000096696	ENST00000379802	T	0.75050	-0.9	5.58	-4.43	0.03568	.	0.136641	0.34777	N	0.003697	T	0.64450	0.2599	L	0.39898	1.24	0.26997	N	0.965007	D	0.65815	0.995	P	0.55345	0.774	T	0.73046	-0.4106	10	0.72032	D	0.01	.	19.0115	0.92875	0.3738:0.6262:0.0:0.0	.	1558	P15924	DESP_HUMAN	W	1558	ENSP00000369129:R1558W	ENSP00000369129:R1558W	R	+	1	2	DSP	7526094	0.894000	0.30519	0.005000	0.12908	0.519000	0.34347	2.191000	0.42640	-0.511000	0.06514	0.655000	0.94253	CGG	DSP	-	NULL		0.517	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7581095	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	0.036	T	T	7581095	C	T	7581095	3	4	10	1	0	0	0	0	1	0	0	0	4791	759	27	2	4762	2	DSP	6	7581095	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		7581095	163533972	73	1083										
ZNF184	7738	genome.wustl.edu	37	chr6	27419369	27419369	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aattcgttgatgctgagttaGatgggagctctggctaaagg	14	5	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:27419369G>A	ENST00000211936.6	-	6	2253	c.1969C>T	c.(1969-1971)Cta>Tta	p.L657L	ZNF184_ENST00000377419.1_Silent_p.L657L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGCTGAGTTAGATGGGAGCTC	0.423																																																	0													100	105	104					6																	27419369		2203	4300	6503	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1969C>T	6.37:g.27419369G>A			B2R715|O60792|Q8TBA9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L657	ENST00000211936.6	37	c.1969	CCDS4624.1	6																																																																																			ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	G	NM_007149		27419369	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	silent	SNP	0.125	A	A	27419369	G	A	27419369	2	1	10	1	0	0	0	0	0	0	0	1	17781	933	33	1		1	ZNF184	6	27419369	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	19838274	27419369	143695698	74	1084										
TUBB	203068	genome.wustl.edu	37	chr6	30691826	30691826	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgaaggaggtcgatgagcaGatgcttaacgtgcagaacaa	13	6	0	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:30691826G>A	ENST00000327892.8	+	4	1293	c.987G>A	c.(985-987)caG>caA	p.Q329Q	TUBB_ENST00000435534.1_Silent_p.Q128Q|TUBB_ENST00000330914.3_Silent_p.Q257Q|TUBB_ENST00000396389.1_Silent_p.Q311Q|TUBB_ENST00000396384.1_Silent_p.Q257Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	329					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCGATGAGCAGATGCTTAACG	0.557																																																	0													101	91	94					6																	30691826		2203	4300	6503	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.987G>A	6.37:g.30691826G>A			P05218|Q8WUC1|Q9CY33	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.Q329	ENST00000327892.8	37	c.987	CCDS4687.1	6																																																																																			TUBB	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin		0.557	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	G	NM_178014		30691826	1	no_errors	ENST00000327892	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30691826	G	A	30691826	2	1	10	1	0	0	0	0	0	0	0	1	16783	933	33	1		1	TUBB	6	30691826	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3272457	30691826	140423241	75	1085										
ZBTB12	221527	genome.wustl.edu	37	chr6	31868109	31868109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tctttaaggggtttccacctGagaagcccccaggcaggggt	13	11	1	1	rs555290175		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:31868109G>A	ENST00000375527.2	-	2	1149	c.974C>T	c.(973-975)tCa>tTa	p.S325L	C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375537.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	325	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GTTTCCACCTGAGAAGCCCCC	0.682													G|||	1	0.000199681	8e-04	0	5008	,	,		8101	0		0	False		,,,				2504	0																0													16	18	17					6																	31868109		2190	4283	6473	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.974C>T	6.37:g.31868109G>A	ENSP00000364677:p.Ser325Leu		B0UY00|Q5JQ98	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S325L	ENST00000375527.2	37	c.974	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	G	2.573	-0.299099	0.05532	.	.	ENSG00000204366	ENST00000375527	T	0.13538	2.58	3.26	0.438	0.16560	.	0.649495	0.12164	U	0.493662	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.52906	T	0.07	.	3.473	0.07574	0.3193:0.0:0.5039:0.1768	.	325	Q9Y330	ZBT12_HUMAN	L	325	ENSP00000364677:S325L	ENSP00000364677:S325L	S	-	2	0	ZBTB12	31976088	0.000000	0.05858	0.001000	0.08648	0.369000	0.29798	0.156000	0.16382	-0.140000	0.11394	0.313000	0.20887	TCA	ZBTB12	-	NULL		0.682	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2	G	NM_181842		31868109	-1	no_errors	ENST00000375527	ensembl	human	known	70_37	missense	SNP	0.000	A	A	31868109	G	A	31868109	3	1	10	1	0	0	0	0	1	0	0	0	17555	1294	45	1	409	1	ZBTB12	6	31868109	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1176283	31868109	139246958	76	1086										
AGPAT1	10554	genome.wustl.edu	37	chr6	32137054	32137054	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gagagctcagagccagggttCacccaccgcccccaggcttc	11	17	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:32137054C>T	ENST00000395499.1	-	7	1430	c.851G>A	c.(850-852)tGa>tAa	p.*284*	AGPAT1_ENST00000336984.6_Silent_p.*284*|AGPAT1_ENST00000412465.2_Silent_p.*172*|AGPAT1_ENST00000395496.1_Silent_p.*284*|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Silent_p.*284*|AGPAT1_ENST00000375104.2_Silent_p.*284*|AGPAT1_ENST00000375107.3_Silent_p.*284*			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	0					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGCCAGGGTTCACCCACCGCC	0.607																																																	0													58	59	59					6																	32137054		1510	2708	4218	SO:0001819	synonymous_variant	10554			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.851G>A	6.37:g.32137054C>T			A2BFI5|Q5BL03	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.*284	ENST00000395499.1	37	c.851	CCDS4744.1	6																																																																																			AGPAT1	-	NULL		0.607	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT1	HGNC	protein_coding	OTTHUMT00000268941.1	C	NM_006411		32137054	-1	no_errors	ENST00000336984	ensembl	human	known	70_37	silent	SNP	0.462	T	T	32137054	C	T	32137054	2	4	10	1	0	0	0	0	0	0	0	1	386	837	29	1		1	AGPAT1	6	32137054	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	268945	32137054	138978013	77	1087										
DST	667	genome.wustl.edu	37	chr6	56504768	56504768	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gagactagattcaaattcttCaatagctctatgaacatttt	5	7	4	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:56504768C>G	ENST00000361203.3	-	15	1952	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	DST_ENST00000421834.2_Missense_Mutation_p.E649Q|DST_ENST00000370769.4_Missense_Mutation_p.E649Q|DST_ENST00000446842.2_Missense_Mutation_p.E323Q|DST_ENST00000370754.5_Missense_Mutation_p.E827Q|DST_ENST00000244364.6_Missense_Mutation_p.E323Q|DST_ENST00000518935.1_Missense_Mutation_p.E323Q|DST_ENST00000312431.6_Missense_Mutation_p.E649Q|DST_ENST00000370788.2_Missense_Mutation_p.E649Q|DST_ENST00000370765.6_Missense_Mutation_p.E323Q			Q03001	DYST_HUMAN	dystonin	649					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAATTCTTCAATAGCTCTA	0.323																																																	0													55	60	58					6																	56504768		2202	4299	6501	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1945G>C	6.37:g.56504768C>G	ENSP00000354508:p.Glu649Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E827Q	ENST00000361203.3	37	c.2479		6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585252	0.86748	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000106	D	0.95834	0.8644	M	0.65498	2.005	0.30692	N	0.751219	D;D;D;D;D;P;D;D;D;P	0.89917	0.996;1.0;0.996;0.999;1.0;0.948;0.996;0.964;1.0;0.755	D;D;D;D;D;P;D;P;D;P	0.85130	0.973;0.993;0.973;0.988;0.997;0.623;0.978;0.884;0.993;0.698	D	0.94127	0.7385	9	0.38643	T	0.18	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	678;649;649;827;765;323;323;323;649;323	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	Q	323;827;649;649;323;649;649;649;323;689;323;323	ENSP00000244364:E323Q;ENSP00000359790:E827Q;ENSP00000359805:E649Q;ENSP00000400883:E649Q;ENSP00000393645:E323Q;ENSP00000307959:E649Q;ENSP00000359824:E649Q;ENSP00000354508:E649Q;ENSP00000404924:E323Q;ENSP00000431030:E689Q;ENSP00000359801:E323Q;ENSP00000431003:E323Q	ENSP00000244364:E323Q	E	-	1	0	DST	56612727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.869000	0.69613	2.836000	0.97738	0.655000	0.94253	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56504768	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56504768	C	G	56504768	3	3	10	1	0	0	0	0	1	0	0	0	4793	835	29	1	19508	1	DST	6	56504768	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	24367714	56504768	114610299	78	1088										
PTPRK	5796	genome.wustl.edu	37	chr6	128403634	128403634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gctggaccaaagcctttgacCgtgctggctcttatgaaaaa	10	10	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:128403634C>T	ENST00000368215.3	-	10	1724	c.1725G>A	c.(1723-1725)acG>acA	p.T575T	PTPRK_ENST00000532331.1_Silent_p.T575T|PTPRK_ENST00000368227.3_Silent_p.T575T|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Silent_p.T575T|PTPRK_ENST00000368226.4_Silent_p.T575T|PTPRK_ENST00000368210.3_Silent_p.T575T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.T575T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	575	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGCCTTTGACCGTGCTGGCTC	0.428																																																	0													147	145	146					6																	128403634		2203	4300	6503	SO:0001819	synonymous_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1725G>A	6.37:g.128403634C>T			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T575	ENST00000368215.3	37	c.1725		6																																																																																			PTPRK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128403634	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	silent	SNP	0.008	T	T	128403634	C	T	128403634	2	4	10	1	0	0	0	0	0	0	0	1	12835	639	23	2		2	PTPRK	6	128403634	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	71898866	128403634	42711433	79	1089										
IFNGR1	3459	genome.wustl.edu	37	chr6	137519721	137519721	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gctggtatgacgtgatgagtGatacatattttgattcaggt	12	4	1	5			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:137519721G>C	ENST00000367739.4	-	7	1038	c.917C>G	c.(916-918)tCa>tGa	p.S306*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.S278*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	306					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CGTGATGAGTGATACATATTT	0.388																																																	0													66	61	63					6																	137519721		2203	4300	6503	SO:0001587	stop_gained	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.917C>G	6.37:g.137519721G>C	ENSP00000356713:p.Ser306*		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S306*	ENST00000367739.4	37	c.917	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670636	0.88348	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	6.06	5.19	0.71726	.	2.485370	0.01475	N	0.016456	.	.	.	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.0281	11.0557	0.47915	0.0844:0.0:0.9156:0.0	.	.	.	.	X	306;278	.	ENSP00000356713:S306X	S	-	2	0	IFNGR1	137561414	0.433000	0.25562	0.050000	0.19076	0.241000	0.25554	2.466000	0.45084	1.569000	0.49696	0.655000	0.94253	TCA	IFNGR1	-	pfam_Interferon_gamma_pox/mammal		0.388	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137519721	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	nonsense	SNP	0.199	C	C	137519721	G	C	137519721	4	2	10	1	0	0	0	0	0	1	0	0	7569	1294	45	1	556	1	IFNGR1	6	137519721	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	9116087	137519721	33595346	80	1090										
STX11	8676	genome.wustl.edu	37	chr6	144508376	144508376	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aagggcgcgcgggccgccctCaacgagatcgagagccgcca	15	15	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:144508376C>T	ENST00000367568.4	+	2	795	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	204	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.		L -> H (in dbSNP:rs1133248).	ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGGCCGCCCTCAACGAGATCG	0.637									Familial Hemophagocytic Lymphohistiocytosis																																								0													36	42	40					6																	144508376		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.612C>T	6.37:g.144508376C>T			E1P598|O75378|O95148|Q5TCL6	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L204	ENST00000367568.4	37	c.612	CCDS5205.1	6																																																																																			STX11	-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	C			144508376	1	no_errors	ENST00000367568	ensembl	human	known	70_37	silent	SNP	1.000	T	T	144508376	C	T	144508376	2	4	10	1	0	0	0	0	0	0	0	1	15367	813	29	1		1	STX11	6	144508376	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	6988655	144508376	26606691	81	1091										
UNCX	340260	genome.wustl.edu	37	chr7	1273287	1273287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atcccgacgtgttcatgcgcGaggcgctggcgctgcgccta	14	14	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:1273287G>C	ENST00000316333.8	+	2	517	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	136					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTCATGCGCGAGGCGCTGGC	0.677																																																	0													48	51	50					7																	1273287		2203	4299	6502	SO:0001583	missense	340260				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.406G>C	7.37:g.1273287G>C	ENSP00000314480:p.Glu136Gln		A4D221	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E136Q	ENST00000316333.8	37	c.406	CCDS34583.1	7	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434892	0.62955	.	.	ENSG00000164853	ENST00000316333	D	0.96427	-4.01	4.0	4.0	0.46444	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.301457	0.28914	U	0.013723	D	0.98009	0.9344	M	0.82433	2.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99075	1.0835	10	0.87932	D	0	-28.0093	15.5305	0.75956	0.0:0.0:1.0:0.0	.	136	A6NJT0	UNC4_HUMAN	Q	136	ENSP00000314480:E136Q	ENSP00000314480:E136Q	E	+	1	0	UNCX	1239813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	1.989000	0.58080	0.485000	0.47835	GAG	UNCX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.677	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	G	NM_001080461		1273287	1	no_errors	ENST00000316333	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1273287	G	C	1273287	3	2	10	1	0	0	0	0	1	0	0	0	17029	1059	37	1	412	1	UNCX	7	1273287	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		1273287	157865376	82	1092										
ELMO1	9844	genome.wustl.edu	37	chr7	37298896	37298896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gccaagtccttcagggcttcCagcttggcatccatactcga	9	14	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:37298896C>T	ENST00000310758.4	-	6	950	c.303G>A	c.(301-303)ctG>ctA	p.L101L	ELMO1_ENST00000442504.1_Silent_p.L101L|ELMO1_ENST00000448602.1_Silent_p.L101L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	101					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCAGGGCTTCCAGCTTGGCAT	0.537																																																	0													68	61	64					7																	37298896		2203	4300	6503	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.303G>A	7.37:g.37298896C>T			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L101	ENST00000310758.4	37	c.303	CCDS5449.1	7																																																																																			ELMO1	-	superfamily_ARM-type_fold		0.537	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		37298896	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37298896	C	T	37298896	2	4	10	1	0	0	0	0	0	0	0	1	5077	581	21	4		4	ELMO1	7	37298896	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	36025609	37298896	121839767	83	1093										
EGFR	1956	genome.wustl.edu	37	chr7	55214393	55214393	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atagtcagcagtgactttctCagcaacatgtcgatggactt	9	9	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:55214393C>G	ENST00000275493.2	+	4	696	c.519C>G	c.(517-519)ctC>ctG	p.L173L	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000344576.2_Silent_p.L173L|EGFR_ENST00000342916.3_Silent_p.L173L|EGFR_ENST00000442591.1_Silent_p.L173L|EGFR_ENST00000420316.2_Silent_p.L173L|EGFR_ENST00000454757.2_Silent_p.L120L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	173			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGACTTTCTCAGCAACATGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													127	102	110					7																	55214393		2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.519C>G	7.37:g.55214393C>G			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L173	ENST00000275493.2	37	c.519	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55214393	1	no_errors	ENST00000275493	ensembl	human	known	70_37	silent	SNP	0.009	G	G	55214393	C	G	55214393	2	3	10	1	0	0	0	0	0	0	0	1	4977	813	29	1		1	EGFR	7	55214393	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	17915497	55214393	103924270	84	1094										
PCLO	27445	genome.wustl.edu	37	chr7	82595426	82595426	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttttttcttcagaacgtatCttttcttcttcagggattag	6	7	6	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:82595426C>G	ENST00000333891.9	-	4	4015	c.3678G>C	c.(3676-3678)aaG>aaC	p.K1226N	PCLO_ENST00000423517.2_Missense_Mutation_p.K1226N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACGTATCTTTTCTTCTT	0.388																																																	0													198	191	193					7																	82595426		1801	4068	5869	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3678G>C	7.37:g.82595426C>G	ENSP00000334319:p.Lys1226Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.K1226N	ENST00000333891.9	37	c.3678	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.911	0.352214	0.11182	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.28	4.21	-0.674	0.11369	.	.	.	.	.	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.20955	0.032;0.032	T	0.30387	-0.9980	9	0.87932	D	0	.	9.8893	0.41281	0.0:0.459:0.0:0.541	.	1226;1226	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1165;1226;1226	ENSP00000334319:K1226N;ENSP00000388393:K1226N	ENSP00000334319:K1226N	K	-	3	2	PCLO	82433362	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.412000	0.21131	-0.138000	0.11434	-0.793000	0.03317	AAG	PCLO	-	NULL		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82595426	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	G	G	82595426	C	G	82595426	3	3	10	1	0	0	0	0	1	0	0	0	11607	912	32	1	11855	1	PCLO	7	82595426	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	27381033	82595426	76543237	85	1095										
TAF6	6878	genome.wustl.edu	37	chr7	99709583	99709583	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	actgaaccgtggcagcatctGatacagtccagggtccgtgg	13	11	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:99709583G>C	ENST00000344095.4	-	8	1285	c.760C>G	c.(760-762)Cag>Gag	p.Q254E	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.Q254E|TAF6_ENST00000418432.2_Missense_Mutation_p.Q178E|TAF6_ENST00000437822.2_Missense_Mutation_p.Q291E|TAF6_ENST00000472509.1_Missense_Mutation_p.Q311E|TAF6_ENST00000453269.2_Missense_Mutation_p.Q254E	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	254					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGCATCTGATACAGTCCA	0.602																																																	0													81	68	73					7																	99709583		2203	4300	6503	SO:0001583	missense	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.760C>G	7.37:g.99709583G>C	ENSP00000344537:p.Gln254Glu		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.Q254E	ENST00000344095.4	37	c.760	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922539	0.33908	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822;ENST00000493322	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;0.63	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.63169	1.94	0.58432	D	0.999999	P;P;P;B;P;P	0.40144	0.512;0.644;0.512;0.131;0.704;0.512	B;B;B;B;B;B	0.37943	0.113;0.227;0.113;0.085;0.261;0.113	T	0.60885	-0.7174	10	0.12103	T	0.63	-20.6091	17.2336	0.86991	0.0:0.0:1.0:0.0	.	291;254;244;254;254;178	B4DT11;P49848-2;A4D299;P49848;C9JTY6;B3KUR4	.;.;.;TAF6_HUMAN;.;.	E	254;311;254;254;178;291;254	ENSP00000389575:Q254E;ENSP00000419760:Q311E;ENSP00000416396:Q254E;ENSP00000344537:Q254E;ENSP00000407980:Q178E;ENSP00000399982:Q291E;ENSP00000419555:Q254E	ENSP00000344537:Q254E	Q	-	1	0	TAF6	99547519	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	9.027000	0.93706	2.665000	0.90641	0.561000	0.74099	CAG	TAF6	-	superfamily_ARM-type_fold		0.602	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	G	NM_005641		99709583	-1	no_errors	ENST00000344095	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99709583	G	C	99709583	3	2	10	1	0	0	0	0	1	0	0	0	15560	1299	45	1	1305	1	TAF6	7	99709583	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	17114157	99709583	59429080	86	1096										
MUC17	140453	genome.wustl.edu	37	chr7	100677044	100677044	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cacatatcaccacttctactGaagccagttgctctcctaca	4	15	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:100677044G>A	ENST00000306151.4	+	3	2411	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	783	59 X approximate tandem repeats.|Ser-rich.				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)			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)					CACTTCTACTGAAGCCAGTTG	0.458																																																	0													272	278	276					7																	100677044		2203	4300	6503	SO:0001583	missense	140453			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.2347G>A	7.37:g.100677044G>A	ENSP00000302716:p.Glu783Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E783K	ENST00000306151.4	37	c.2347	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	3.598	-0.082193	0.07141	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.932	-0.129	0.13502	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.48222	-0.9054	9	0.06236	T	0.91	.	6.6395	0.22901	0.0:0.5936:0.4064:0.0	.	783	Q685J3	MUC17_HUMAN	K	783	ENSP00000302716:E783K	ENSP00000302716:E783K	E	+	1	0	MUC17	100463764	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.978000	0.01494	-0.016000	0.14127	0.134000	0.15878	GAA	MUC17	-	NULL		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100677044	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.004	A	A	100677044	G	A	100677044	3	1	10	1	0	0	0	0	1	0	0	0	9997	1291	45	1	2357	1	MUC17	7	100677044	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	967461	100677044	58461619	87	1097										
TRIM56	81844	genome.wustl.edu	37	chr7	100730990	100730990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	acttgtgccaggcctgtgccGacgggcaccgctgcacccgc	13	17	0	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:100730990G>T	ENST00000306085.6	+	3	694	c.397G>T	c.(397-399)Gac>Tac	p.D133Y		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	133					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCTGTGCCGACGGGCACCG	0.726																																					Ovarian(89;1092 1379 22756 38989 39611)												0													10	13	12					7																	100730990		1994	4111	6105	SO:0001583	missense	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.397G>T	7.37:g.100730990G>T	ENSP00000305161:p.Asp133Tyr		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.D133Y	ENST00000306085.6	37	c.397	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776723	0.49786	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42513	0.97;1.3	3.9	3.9	0.45041	.	0.000000	0.46758	D	0.000270	T	0.47985	0.1475	N	0.25890	0.77	0.27414	N	0.954472	D;D	0.76494	0.996;0.999	D;D	0.74674	0.921;0.984	T	0.31943	-0.9925	10	0.54805	T	0.06	.	11.673	0.51413	0.0:0.0:1.0:0.0	.	133;133	C9JI91;Q9BRZ2	.;TRI56_HUMAN	Y	133	ENSP00000305161:D133Y;ENSP00000404186:D133Y	ENSP00000305161:D133Y	D	+	1	0	TRIM56	100517710	0.001000	0.12720	0.718000	0.30602	0.957000	0.61999	0.491000	0.22419	2.444000	0.82710	0.655000	0.94253	GAC	TRIM56	-	NULL		0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	G	NM_030961		100730990	1	no_errors	ENST00000306085	ensembl	human	known	70_37	missense	SNP	0.821	T	T	100730990	G	T	100730990	3	4	10	1	0	0	0	0	1	0	0	0	16561	1058	37	3	399	3	TRIM56	7	100730990	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	53946	100730990	58407673	88	1098										
RELN	5649	genome.wustl.edu	37	chr7	103141295	103141295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ccctgcagttgtccaagcatCcagggcccaggtagaaatta	10	12	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:103141295C>T	ENST00000428762.1	-	53	8723	c.8564G>A	c.(8563-8565)gGa>gAa	p.G2855E	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.G2855E|RELN_ENST00000343529.5_Missense_Mutation_p.G2855E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2855	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCAAGCATCCAGGGCCCAG	0.493																																					NSCLC(146;835 1944 15585 22231 52158)												0													182	169	174					7																	103141295		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8564G>A	7.37:g.103141295C>T	ENSP00000392423:p.Gly2855Glu		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G2855E	ENST00000428762.1	37	c.8564	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355488	0.24598	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21031	2.03;2.03;2.03	5.17	4.28	0.50868	Neuraminidase (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.121289	0.56097	D	0.000032	T	0.09949	0.0244	N	0.02916	-0.46	0.46376	D	0.999012	B;B	0.14805	0.004;0.011	B;B	0.14578	0.008;0.011	T	0.10200	-1.0640	10	0.44086	T	0.13	.	12.4436	0.55639	0.0:0.9167:0.0:0.0833	.	2855;2855	P78509-2;P78509	.;RELN_HUMAN	E	2855;2855;2855;372;2855	ENSP00000392423:G2855E;ENSP00000345694:G2855E;ENSP00000388446:G2855E	ENSP00000345694:G2855E	G	-	2	0	RELN	102928531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	1.116000	0.41820	0.655000	0.94253	GGA	RELN	-	superfamily_Neuraminidase,smart_EG-like_dom		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103141295	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103141295	C	T	103141295	3	4	10	1	0	0	0	0	1	0	0	0	13250	855	30	1	1870	1	RELN	7	103141295	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	2410305	103141295	55997368	89	1099										
IMMP2L	83943	genome.wustl.edu	37	chr7	110526718	110526718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	acccagatgtgaccacggggGactttgacataccggttttt	11	10	0	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:110526718G>A	ENST00000405709.2	-	5	781	c.339C>T	c.(337-339)gtC>gtT	p.V113V	IMMP2L_ENST00000415362.1_Silent_p.V113V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Silent_p.V113V|IMMP2L_ENST00000450877.1_Silent_p.V95V|IMMP2L_ENST00000452895.1_Silent_p.V113V	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	113					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GACCACGGGGGACTTTGACAT	0.413																																																	0													131	121	125					7																	110526718		2203	4300	6503	SO:0001819	synonymous_variant	83943			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.339C>T	7.37:g.110526718G>A			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.V113	ENST00000405709.2	37	c.339	CCDS5753.1	7																																																																																			IMMP2L	-	superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1		0.413	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	G	NM_032549		110526718	-1	no_errors	ENST00000331762	ensembl	human	known	70_37	silent	SNP	0.921	A	A	110526718	G	A	110526718	2	1	10	1	0	0	0	0	0	0	0	1	7737	1161	41	1		1	IMMP2L	7	110526718	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	7385423	110526718	48611945	90	1100										
TMEM168	64418	genome.wustl.edu	37	chr7	112424409	112424409	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccaacaagctccagaaattCaactgtggttagtaaagtgg	9	8	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:112424409C>T	ENST00000312814.6	-	2	1032	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E158K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	158						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TCCAGAAATTCAACTGTGGTT	0.428																																																	0													71	70	70					7																	112424409		2203	4300	6503	SO:0001583	missense	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.472G>A	7.37:g.112424409C>T	ENSP00000323068:p.Glu158Lys		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.E158K	ENST00000312814.6	37	c.472	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.066265	0.93898	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78851	-0.2041	9	0.87932	D	0	-15.4916	20.6397	0.99537	0.0:1.0:0.0:0.0	.	158	Q9H0V1	TM168_HUMAN	K	158	.	ENSP00000323068:E158K	E	-	1	0	TMEM168	112211645	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAA	TMEM168	-	NULL		0.428	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	C	NM_022484		112424409	-1	no_errors	ENST00000312814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112424409	C	T	112424409	3	4	10	1	0	0	0	0	1	0	0	0	16113	835	29	1	1637	1	TMEM168	7	112424409	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	1897691	112424409	46714254	91	1101										
MKLN1	4289	genome.wustl.edu	37	chr7	131082109	131082109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttgatgatcctgatatagtaCaaccttgtctcaactggtat	7	8	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:131082109C>T	ENST00000352689.6	+	5	524	c.484C>T	c.(484-486)Caa>Taa	p.Q162*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.Q70*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.Q70*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	162					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGATATAGTACAACCTTGTCT	0.378																																																	0													168	151	157					7																	131082109		2203	4300	6503	SO:0001587	stop_gained	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.484C>T	7.37:g.131082109C>T	ENSP00000323527:p.Gln162*		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Q162*	ENST00000352689.6	37	c.484	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741078	0.89573	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7103	19.2508	0.93925	0.0:1.0:0.0:0.0	.	.	.	.	X	70;70;70;70;162	.	ENSP00000323527:Q162X	Q	+	1	0	MKLN1	130732649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.868000	0.98415	0.555000	0.69702	CAA	MKLN1	-	pfam_Muskelin_N		0.378	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	C	NM_013255		131082109	1	no_errors	ENST00000352689	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131082109	C	T	131082109	4	4	10	1	0	0	0	0	0	1	0	0	9626	479	17	4	535	4	MKLN1	7	131082109	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	18657700	131082109	28056554	92	1102										
MGAM	8972	genome.wustl.edu	37	chr7	141794572	141794572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agcagatatctgtgggttctTtcaagatgctgaatatgaga	11	5	3	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:141794572T>C	ENST00000549489.2	+	40	4774	c.4679T>C	c.(4678-4680)tTt>tCt	p.F1560S	MGAM_ENST00000475668.2_Missense_Mutation_p.F2456S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1560	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGGGTTCTTTCAAGATGCT	0.488																																																	0													67	65	66					7																	141794572		1868	4104	5972	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4679T>C	7.37:g.141794572T>C	ENSP00000447378:p.Phe1560Ser		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.F1560S	ENST00000549489.2	37	c.4679	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882629	0.33255	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.91295	-2.82	5.37	5.37	0.77165	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.90356	0.6982	M	0.74647	2.275	0.29281	N	0.870045	P	0.41748	0.761	B	0.39738	0.308	D	0.87490	0.2426	9	0.42905	T	0.14	.	14.6414	0.68729	0.0:0.0:0.0:1.0	.	1560	O43451	MGA_HUMAN	S	1560;2457	ENSP00000447378:F1560S	ENSP00000373973:F1560S	F	+	2	0	MGAM	141441041	1.000000	0.71417	0.982000	0.44146	0.881000	0.50899	3.994000	0.56994	2.154000	0.67381	0.533000	0.62120	TTT	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	T			141794572	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.990	C	C	141794572	T	C	141794572	3	2	10	1	0	0	0	0	1	0	0	0	9564	1841	64	5	4833	5	MGAM	7	141794572	Missense_Mutation	SNP	T	TCGA-C5-A1BL-01A-11D-A13W-08	10712463	141794572	17344091	93	1103										
OR2A12	346525	genome.wustl.edu	37	chr7	143792716	143792716	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cctttttgtggcccacaaaaGatcaaccactttttctgtca	5	12	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:143792716G>T	ENST00000408949.2	+	1	576	c.516G>T	c.(514-516)aaG>aaT	p.K172N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCCCACAAAAGATCAACCACT	0.463																																																	0													165	153	157					7																	143792716		1957	4153	6110	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.516G>T	7.37:g.143792716G>T	ENSP00000386174:p.Lys172Asn		Q6IF43	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K172N	ENST00000408949.2	37	c.516	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	G	6.245	0.413243	0.11812	.	.	ENSG00000221858	ENST00000408949	T	0.00107	8.72	4.23	-5.56	0.02529	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.50919	1.6	0.09310	N	1	B	0.27229	0.172	P	0.45794	0.493	T	0.23261	-1.0193	9	0.41790	T	0.15	-1.1427	1.4156	0.02301	0.3525:0.25:0.2745:0.1229	.	172	Q8NGT7	O2A12_HUMAN	N	172	ENSP00000386174:K172N	ENSP00000386174:K172N	K	+	3	2	OR2A12	143423649	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.877000	0.00717	-1.333000	0.02247	-1.353000	0.01230	AAG	OR2A12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	G			143792716	1	no_errors	ENST00000408949	ensembl	human	known	70_37	missense	SNP	0.000	T	T	143792716	G	T	143792716	3	4	10	1	0	0	0	0	1	0	0	0	10999	933	33	3	518	3	OR2A12	7	143792716	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1998144	143792716	15345947	94	1104										
MLL3	58508	genome.wustl.edu	37	chr7	151845151	151845151	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtcacttagaaccaggtcttCatggccttgttccacaatcc	7	13	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:151845151C>A	ENST00000262189.6	-	52	14079	c.13861G>T	c.(13861-13863)Gaa>Taa	p.E4621*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E4678*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4621	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCAGGTCTTCATGGCCTTGT	0.498																																																	0													94	84	87					7																	151845151		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13861G>T	7.37:g.151845151C>A	ENSP00000262189:p.Glu4621*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4678*	ENST00000262189.6	37	c.14032	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	55|55	24.304048|24.304048	0.99960|0.99960	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.153716|.	0.29260|.	U|.	0.012673|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.51188|.	T|.	0.08|.	.|.	16.7614|16.7614	0.85513|0.85513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	4621;4678;1238|2181	.|.	ENSP00000262189:E4621X|.	E|X	-|-	1|2	0|2	MLL3|MLL3	151476084|151476084	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.873000|0.873000	0.50193|0.50193	4.996000|4.996000	0.63914|0.63914	1.949000|1.949000	0.56562|0.56562	0.557000|0.557000	0.71058|0.71058	GAA|TGA	MLL3	-	pfam_FYrich_C,smart_FYrich_C		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151845151	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151845151	C	A	151845151	4	1	10	1	0	0	0	0	0	1	0	0	9645	835	29	3	906	3	MLL3	7	151845151	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	8052435	151845151	7293512	95	1105										
TEX15	56154	genome.wustl.edu	37	chr8	30695564	30695564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttgttttcgcttttgggatGagatcctgtagtcctattag	10	6	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:30695564G>C	ENST00000256246.2	-	3	7161	c.7087C>G	c.(7087-7089)Cat>Gat	p.H2363D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2363					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTGGGATGAGATCCTGTA	0.299																																																	0													89	88	88					8																	30695564		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7087C>G	8.37:g.30695564G>C	ENSP00000256246:p.His2363Asp			Missense_Mutation	SNP	NULL	p.H2363D	ENST00000256246.2	37	c.7087	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499143	0.26861	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	4.81	2.86	0.33363	.	0.149718	0.31415	N	0.007692	T	0.17023	0.0409	L	0.51422	1.61	0.09310	N	0.999997	D	0.62365	0.991	P	0.57101	0.813	T	0.03068	-1.1076	10	0.87932	D	0	.	5.3513	0.16038	0.1024:0.0:0.6986:0.1991	.	2363	Q9BXT5	TEX15_HUMAN	D	2363	ENSP00000256246:H2363D	ENSP00000256246:H2363D	H	-	1	0	TEX15	30815106	1.000000	0.71417	0.497000	0.27552	0.324000	0.28378	1.995000	0.40767	1.350000	0.45770	0.462000	0.41574	CAT	TEX15	-	NULL		0.299	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30695564	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.303	C	C	30695564	G	C	30695564	3	2	10	1	0	0	0	0	1	0	0	0	15809	1290	45	1	1290	1	TEX15	8	30695564	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		30695564	115668458	96	1106										
PURG	29942	genome.wustl.edu	37	chr8	30889906	30889906	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgctcttgccggtggcctttCaggcccaggtgggcatagtg	15	11	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:30889906C>G	ENST00000475541.1	-	1	1325	c.393G>C	c.(391-393)ctG>ctC	p.L131L	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.L131L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	131						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGTGGCCTTTCAGGCCCAGGT	0.592																																																	0													84	86	85					8																	30889906		2203	4300	6503	SO:0001819	synonymous_variant	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.393G>C	8.37:g.30889906C>G			Q8TE64	Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.L131	ENST00000475541.1	37	c.393	CCDS6081.1	8																																																																																			PURG	-	pfam_PUR_DNA_RNA-bd		0.592	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	C	NM_013357		30889906	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	silent	SNP	1.000	G	G	30889906	C	G	30889906	2	3	10	1	0	0	0	0	0	0	0	1	12859	813	29	1		1	PURG	8	30889906	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	194342	30889906	115474116	97	1107										
PROSC	11212	genome.wustl.edu	37	chr8	37630362	37630362	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggcagagaaaaggttctcctGaaaggttaaaggttatggtc	13	5	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:37630362G>A	ENST00000328195.3	+	5	476	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	137					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AGGTTCTCCTGAAAGGTTAAA	0.428																																																	0													118	114	115					8																	37630362		2203	4300	6503	SO:0001583	missense	11212			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.409G>A	8.37:g.37630362G>A	ENSP00000333551:p.Glu137Lys		Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.E137K	ENST00000328195.3	37	c.409	CCDS6096.1	8	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791590	0.50102	.	.	ENSG00000147471	ENST00000328195;ENST00000523358;ENST00000523187;ENST00000523521	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.87	4.99	0.66335	Alanine racemase, N-terminal (1);	0.105878	0.64402	D	0.000003	T	0.25195	0.0612	N	0.13140	0.3	0.80722	D	1	B	0.12013	0.005	B	0.22152	0.038	T	0.06661	-1.0814	10	0.09590	T	0.72	-8.3544	12.6064	0.56525	0.0:0.1266:0.7419:0.1315	.	137	O94903	PROSC_HUMAN	K	137;137;85;56	ENSP00000333551:E137K;ENSP00000427778:E137K;ENSP00000427886:E85K;ENSP00000429425:E56K	ENSP00000333551:E137K	E	+	1	0	PROSC	37749520	1.000000	0.71417	0.581000	0.28614	0.969000	0.65631	5.347000	0.65998	1.479000	0.48272	0.655000	0.94253	GAA	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001		0.428	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	G	NM_007198		37630362	1	no_errors	ENST00000328195	ensembl	human	known	70_37	missense	SNP	0.978	A	A	37630362	G	A	37630362	3	1	10	1	0	0	0	0	1	0	0	0	12586	1291	45	1	427	1	PROSC	8	37630362	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	6740456	37630362	108733660	98	1108										
PRKDC	5591	genome.wustl.edu	37	chr8	48701765	48701765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	taaggcattaataaaatcttGaatcactcctccttgatcca	4	10	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:48701765G>C	ENST00000314191.2	-	76	10758	c.10702C>G	c.(10702-10704)Caa>Gaa	p.Q3568E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q3568E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3569					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAAATCTTGAATCACTCCT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													66	61	63					8																	48701765		1797	4063	5860	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10702C>G	8.37:g.48701765G>C	ENSP00000313420:p.Gln3568Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3568E	ENST00000314191.2	37	c.10702		8	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499300	0.12762	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02050	4.54;4.48	5.72	4.84	0.62591	.	0.114208	0.64402	D	0.000011	T	0.03178	0.0093	L	0.49640	1.575	0.45791	D	0.998678	B;B	0.14805	0.011;0.011	B;B	0.12837	0.008;0.007	T	0.38672	-0.9650	10	0.09590	T	0.72	.	15.8254	0.78703	0.0:0.136:0.864:0.0	.	3568;3569	E7EUY0;P78527	.;PRKDC_HUMAN	E	3568	ENSP00000313420:Q3568E;ENSP00000345182:Q3568E	ENSP00000313420:Q3568E	Q	-	1	0	PRKDC	48864318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.631000	0.54280	1.411000	0.46957	0.655000	0.94253	CAA	PRKDC	-	NULL		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48701765	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48701765	G	C	48701765	3	2	10	1	0	0	0	0	1	0	0	0	12548	1299	45	1	1729	1	PRKDC	8	48701765	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	11071403	48701765	97662257	99	1109										
PRKDC	5591	genome.wustl.edu	37	chr8	48794602	48794602	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agtttcagtccttggtgtttCtggtttgctcgctccctgaa	10	10	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:48794602C>G	ENST00000314191.2	-	38	4886	c.4830G>C	c.(4828-4830)caG>caC	p.Q1610H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1610H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1611					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTTGGTGTTTCTGGTTTGCTC	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													149	141	144					8																	48794602		1911	4128	6039	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4830G>C	8.37:g.48794602C>G	ENSP00000313420:p.Gln1610His		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1610H	ENST00000314191.2	37	c.4830		8	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176917	0.38413	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02682	4.27;4.2	5.28	2.42	0.29668	Armadillo-like helical (1);Armadillo-type fold (1);	0.304279	0.29676	N	0.011494	T	0.03915	0.0110	L	0.44542	1.39	0.28541	N	0.912127	P;P	0.41041	0.736;0.736	P;P	0.44447	0.45;0.45	T	0.19321	-1.0309	10	0.72032	D	0.01	.	6.3109	0.21164	0.0:0.5198:0.2638:0.2164	.	1610;1611	E7EUY0;P78527	.;PRKDC_HUMAN	H	1610	ENSP00000313420:Q1610H;ENSP00000345182:Q1610H	ENSP00000313420:Q1610H	Q	-	3	2	PRKDC	48957155	0.999000	0.42202	0.012000	0.15200	0.416000	0.31233	0.647000	0.24812	0.606000	0.29965	0.460000	0.39030	CAG	PRKDC	-	superfamily_ARM-type_fold		0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48794602	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.990	G	G	48794602	C	G	48794602	3	3	10	1	0	0	0	0	1	0	0	0	12548	912	32	1	7753	1	PRKDC	8	48794602	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	92837	48794602	97569420	100	1110										
GGH	8836	genome.wustl.edu	37	chr8	63939811	63939811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tctgaggtcaacacttcctcCagggaaaaggattctgaaac	9	10	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:63939811C>T	ENST00000260118.6	-	4	691	c.289G>A	c.(289-291)Gga>Aga	p.G97R	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	97	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ACACTTCCTCCAGGGAAAAGG	0.353																																																	0													111	112	112					8																	63939811		2203	4300	6503	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.289G>A	8.37:g.63939811C>T	ENSP00000260118:p.Gly97Arg			Missense_Mutation	SNP	pfam_Peptidase_C26,pfam_GATASE_1	p.G97R	ENST00000260118.6	37	c.289	CCDS6177.1	8	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033836	0.93575	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	D	0.87256	-2.23	6.01	6.01	0.97437	.	0.045450	0.85682	D	0.000000	D	0.95881	0.8659	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96420	0.9311	10	0.87932	D	0	-28.8326	19.2926	0.94108	0.0:1.0:0.0:0.0	.	97	Q92820	GGH_HUMAN	R	97;58	ENSP00000260118:G97R	ENSP00000260118:G97R	G	-	1	0	GGH	64102365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.163000	0.71880	2.861000	0.98227	0.650000	0.86243	GGA	GGH	-	pfam_Peptidase_C26,pfam_GATASE_1		0.353	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	C			63939811	-1	no_errors	ENST00000260118	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63939811	C	T	63939811	3	4	10	1	0	0	0	0	1	0	0	0	6376	603	21	4	691	4	GGH	8	63939811	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	15145209	63939811	82424211	101	1111										
NCOA2	10499	genome.wustl.edu	37	chr8	71128948	71128948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttcttgtctctgccctggaGgggtcagaggtattttctcc	11	10	4	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:71128948G>A	ENST00000452400.2	-	3	214	c.33C>T	c.(31-33)ccC>ccT	p.P11P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	11					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCCCTGGAGGGGTCAGAGG	0.433			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													175	166	169					8																	71128948		1862	4116	5978	SO:0001819	synonymous_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.33C>T	8.37:g.71128948G>A			Q14CD2	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.P11	ENST00000452400.2	37	c.33	CCDS47872.1	8																																																																																			NCOA2	-	pirsf_Nuclear_rcpt_coactivator		0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	G			71128948	-1	no_errors	ENST00000452400	ensembl	human	known	70_37	silent	SNP	0.738	A	A	71128948	G	A	71128948	2	1	10	1	0	0	0	0	0	0	0	1	10253	987	35	4		4	NCOA2	8	71128948	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	7189137	71128948	75235074	102	1112										
CSMD3	114788	genome.wustl.edu	37	chr8	113256737	113256737	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ataaatcagtgtatacccatGagatggaaggtccatcccta	8	9	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:113256737G>C	ENST00000297405.5	-	65	10532	c.10288C>G	c.(10288-10290)Cat>Gat	p.H3430D	CSMD3_ENST00000455883.2_Missense_Mutation_p.H3261D|CSMD3_ENST00000343508.3_Missense_Mutation_p.H3390D|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3360D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3430	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTATACCCATGAGATGGAAGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													131	115	120					8																	113256737		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10288C>G	8.37:g.113256737G>C	ENSP00000297405:p.His3430Asp		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H3430D	ENST00000297405.5	37	c.10288	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871550	0.33069	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.382887	0.25055	N	0.033489	T	0.58047	0.2095	L	0.38175	1.15	0.32516	N	0.536936	B;B;B	0.32101	0.356;0.213;0.159	B;B;B	0.35655	0.207;0.169;0.207	T	0.64050	-0.6498	10	0.38643	T	0.18	.	19.3052	0.94158	0.0:0.0:1.0:0.0	.	3261;3430;3390	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	3390;3430;2700;3261;3360	ENSP00000345799:H3390D;ENSP00000297405:H3430D;ENSP00000341558:H2700D;ENSP00000412263:H3261D;ENSP00000343124:H3360D	ENSP00000297405:H3430D	H	-	1	0	CSMD3	113325913	1.000000	0.71417	0.996000	0.52242	0.143000	0.21401	5.874000	0.69652	2.793000	0.96121	0.591000	0.81541	CAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113256737	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	0.997	C	C	113256737	G	C	113256737	3	2	10	1	0	0	0	0	1	0	0	0	3951	1290	45	1	863	1	CSMD3	8	113256737	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	42127789	113256737	33107285	103	1113										
GPR20	2843	genome.wustl.edu	37	chr8	142367298	142367298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgatgagcaccgtgagcagGagctgcatggcccgcacgcg	15	12	0	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:142367298G>A	ENST00000377741.3	-	2	816	c.726C>T	c.(724-726)ctC>ctT	p.L242L	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	242					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCGTGAGCAGGAGCTGCATGG	0.667																																																	0													20	17	18					8																	142367298		2191	4291	6482	SO:0001819	synonymous_variant	2843			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.726C>T	8.37:g.142367298G>A			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L242	ENST00000377741.3	37	c.726	CCDS34949.1	8																																																																																			GPR20	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	G	NM_005293		142367298	-1	no_errors	ENST00000377741	ensembl	human	known	70_37	silent	SNP	0.970	A	A	142367298	G	A	142367298	2	1	10	1	0	0	0	0	0	0	0	1	6699	1161	41	1		1	GPR20	8	142367298	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	29110561	142367298	3996724	104	1114										
EXOSC4	54512	genome.wustl.edu	37	chr8	145135043	145135043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ccacgctcccagattgatatCtatgtgcaggtgagccagct	10	12	1	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:145135043C>G	ENST00000316052.5	+	2	472	c.369C>G	c.(367-369)atC>atG	p.I123M	GPAA1_ENST00000355091.4_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA|EXOSC4_ENST00000525936.1_Intron|GPAA1_ENST00000361036.6_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	123					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGATTGATATCTATGTGCAGG	0.592																																																	0													43	35	37					8																	145135043		2203	4300	6503	SO:0001583	missense	54512			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.369C>G	8.37:g.145135043C>G	ENSP00000315476:p.Ile123Met			Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.I123M	ENST00000316052.5	37	c.369	CCDS6414.1	8	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644124	0.67244	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.70986	-0.53;-0.53	5.05	2.2	0.27929	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84188	0.0443	10	0.87932	D	0	-15.8819	6.2481	0.20830	0.1486:0.6847:0.0:0.1667	.	123	Q9NPD3	EXOS4_HUMAN	M	123;146	ENSP00000315476:I123M;ENSP00000436539:I146M	ENSP00000315476:I123M	I	+	3	3	EXOSC4	145207031	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	1.843000	0.39259	0.144000	0.18951	0.561000	0.74099	ATC	EXOSC4	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.592	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC4	HGNC	protein_coding	OTTHUMT00000384065.1	C	NM_019037		145135043	1	no_errors	ENST00000316052	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145135043	C	G	145135043	3	3	10	1	0	0	0	0	1	0	0	0	5329	903	32	1	375	1	EXOSC4	8	145135043	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	2767745	145135043	1228979	105	1115										
KIFC2	90990	genome.wustl.edu	37	chr8	145698053	145698053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ccctggtcacgctgacgctgCgcgcggcgtctccaccgcgc	13	19	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:145698053C>T	ENST00000301332.2	+	16	2202	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	KIFC2_ENST00000301331.5_Intron|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	609	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGACGCTGCGCGCGGCGTC	0.721																																																	0													11	14	13					8																	145698053		2170	4233	6403	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1825C>T	8.37:g.145698053C>T	ENSP00000301332:p.Arg609Cys		E9PHB2|Q96NN6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R609C	ENST00000301332.2	37	c.1825	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280087	0.59758	.	.	ENSG00000167702	ENST00000301332	T	0.75704	-0.96	5.02	-0.912	0.10504	Kinesin, motor domain (4);	0.236201	0.22093	N	0.064725	T	0.72479	0.3465	L	0.42245	1.32	0.09310	N	0.999993	D	0.71674	0.998	D	0.65773	0.938	T	0.61559	-0.7038	10	0.72032	D	0.01	-0.9193	1.6185	0.02708	0.1964:0.4385:0.1111:0.254	.	609	Q96AC6	KIFC2_HUMAN	C	609	ENSP00000301332:R609C	ENSP00000301332:R609C	R	+	1	0	KIFC2	145668861	0.025000	0.19082	0.007000	0.13788	0.714000	0.41099	0.485000	0.22324	-0.066000	0.12998	0.591000	0.81541	CGC	KIFC2	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.721	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	C	NM_145754		145698053	1	no_errors	ENST00000301332	ensembl	human	known	70_37	missense	SNP	0.000	T	T	145698053	C	T	145698053	3	4	10	1	0	0	0	0	1	0	0	0	8333	768	27	2	1887	2	KIFC2	8	145698053	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	563010	145698053	665969	106	1116										
DOCK8	81704	genome.wustl.edu	37	chr9	368025	368025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcttcttttccagaaaccttCtctatgtctacccacagagg	5	13	4	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:368025C>G	ENST00000453981.1	+	15	1799	c.1687C>G	c.(1687-1689)Ctc>Gtc	p.L563V	DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.L495V|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.L495V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	563	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGAAACCTTCTCTATGTCTA	0.378																																																	0													86	81	82					9																	368025		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1687C>G	9.37:g.368025C>G	ENSP00000408464:p.Leu563Val		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L563V	ENST00000453981.1	37	c.1687	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065853	0.76187	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.26518	1.73;1.73;1.73	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.91354	3.2	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.67382	0.951;0.951	T	0.70357	-0.4894	10	0.72032	D	0.01	.	18.9969	0.92817	0.0:1.0:0.0:0.0	.	495;563	E9PH09;Q8NF50	.;DOCK8_HUMAN	V	563;563;495;495	ENSP00000408464:L563V;ENSP00000394888:L495V;ENSP00000419438:L495V	ENSP00000287364:L563V	L	+	1	0	DOCK8	358025	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.901000	0.69861	2.583000	0.87209	0.650000	0.86243	CTC	DOCK8	-	NULL		0.378	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	C	XM_036307		368025	1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	G	G	368025	C	G	368025	3	3	10	1	0	0	0	0	1	0	0	0	4703	913	32	1	1745	1	DOCK8	9	368025	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		368025	140845406	107	1117										
FAM75A6	389730	genome.wustl.edu	37	chr9	43625223	43625223	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttctccaaagtggcttactGaaggaggctgtttctttgat	10	7	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:43625223G>A	ENST00000332857.6	-	4	3492	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1155					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTGGCTTACTGAAGGAGGCTG	0.443																																																	0													176	178	178					9																	43625223		644	1569	2213	SO:0001583	missense	389730				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3464C>T	9.37:g.43625223G>A	ENSP00000329825:p.Ser1155Leu			Missense_Mutation	SNP	NULL	p.S1155L	ENST00000332857.6	37	c.3464	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	7.179	0.589134	0.13812	.	.	ENSG00000185775	ENST00000332857	T	0.04119	3.7	2.42	-0.733	0.11144	.	1.733100	0.03558	N	0.226540	T	0.05181	0.0138	L	0.39020	1.185	0.09310	N	1	B	0.19706	0.038	B	0.28553	0.091	T	0.43734	-0.9373	10	0.42905	T	0.14	0.5959	2.3283	0.04228	0.2974:0.0:0.4632:0.2393	.	1155	Q5VVP1	F75A6_HUMAN	L	1155	ENSP00000329825:S1155L	ENSP00000329825:S1155L	S	-	2	0	FAM75A6	43565219	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.209000	0.09358	-0.149000	0.11215	0.368000	0.22195	TCA	SPATA31A6	-	NULL		0.443	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	G	NM_001145196		43625223	-1	no_errors	ENST00000332857	ensembl	human	known	70_37	missense	SNP	0.000	A	A	43625223	G	A	43625223	3	1	10	1	0	0	0	0	1	0	0	0	5640	1294	45	1	571	1	FAM75A6	9	43625223	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	43257198	43625223	97588208	108	1118										
FLJ46321	389763	genome.wustl.edu	37	chr9	84607959	84607959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agttcatggcactcagtcaaGcagacaatgtctcttcctga	8	11	4	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:84607959G>T	ENST00000344803.2	+	4	2621	c.2574G>T	c.(2572-2574)aaG>aaT	p.K858N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	858					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTCAGTCAAGCAGACAATGT	0.443																																																	0													89	80	83					9																	84607959		1897	4128	6025	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2574G>T	9.37:g.84607959G>T	ENSP00000341988:p.Lys858Asn			Missense_Mutation	SNP	NULL	p.K858N	ENST00000344803.2	37	c.2574	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338007	0.24253	.	.	ENSG00000214929	ENST00000344803	T	0.47528	0.84	2.7	-1.79	0.07932	.	1.867510	0.02420	N	0.082493	T	0.31040	0.0784	L	0.31157	0.91	0.09310	N	1	B	0.22276	0.067	B	0.27262	0.078	T	0.04090	-1.0978	10	0.15952	T	0.53	0.0	0.3805	0.00394	0.2672:0.2002:0.3291:0.2036	.	858	Q6ZQQ2	F75D1_HUMAN	N	858	ENSP00000341988:K858N	ENSP00000341988:K858N	K	+	3	2	FAM75D1	83797779	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.813000	0.04491	-0.403000	0.07622	0.558000	0.71614	AAG	SPATA31D1	-	NULL		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84607959	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	T	T	84607959	G	T	84607959	3	4	10	1	0	0	0	0	1	0	0	0	5950	962	34	4	2588	4	FLJ46321	9	84607959	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	40982736	84607959	56605472	109	1119										
SYK	6850	genome.wustl.edu	37	chr9	93636954	93636954	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtttcttgactgcattgcagGcccccagagagaagccctac	10	13	1	3	rs139388374	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:93636954G>A	ENST00000375754.4	+	9	1152	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	SYK_ENST00000375751.4_Splice_Site_p.G312D|SYK_ENST00000375747.1_Splice_Site_p.G312D|SYK_ENST00000375746.1_Splice_Site_p.G335D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	335	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCATTGCAGGCCCCCAGAGA	0.552			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	3,4403	4.2+/-10.8	0,3,2200	135	147	143		935,1004,935,1004	3.3	0.7	9	dbSNP_134	143	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	94,94,94,94	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign	312/613,335/636,312/613,335/636	93636954	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1004-1G>A	9.37:g.93636954G>A				Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G335D	ENST00000375754.4	37	c.1004	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	3.435	-0.115284	0.06881	6.81E-4	0.0	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.72942	-0.7;-0.68;-0.68;-0.7	4.25	3.27	0.37495	.	0.799195	0.11338	N	0.574327	T	0.50684	0.1630	N	0.17082	0.46	0.37068	D	0.898384	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.44050	-0.9353	9	.	.	.	.	6.979	0.24692	0.2658:0.0:0.7342:0.0	.	312;335	P43405-2;P43405	.;KSYK_HUMAN	D	335;312;312;335	ENSP00000364907:G335D;ENSP00000364904:G312D;ENSP00000364899:G312D;ENSP00000364898:G335D	.	G	+	2	0	SYK	92676775	0.941000	0.31946	0.729000	0.30791	0.467000	0.32768	1.571000	0.36450	0.936000	0.37367	0.561000	0.74099	GGC	SYK	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.552	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	G		Missense_Mutation	93636954	1	no_errors	ENST00000375746	ensembl	human	known	70_37	missense	SNP	0.947	A	A	93636954	G	A	93636954	5	1	10	1	0	0	0	0	0	0	1	0	15468	1217	42	4	1034	4	SYK	9	93636954	Splice_Site	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	9028995	93636954	47576477	110	1120										
PHF2	5253	genome.wustl.edu	37	chr9	96339125	96339125	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cccgcttcatgatcgagtgcGacgcctgcaaggactggttc	12	13	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:96339125G>C	ENST00000359246.4	+	1	437	c.70G>C	c.(70-72)Gac>Cac	p.D24H	PHF2_ENST00000375376.4_Missense_Mutation_p.D24H	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	24				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GATCGAGTGCGACGCCTGCAA	0.761																																																	0													22	19	20					9																	96339125		2197	4291	6488	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.70G>C	9.37:g.96339125G>C	ENSP00000352185:p.Asp24His		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.D24H	ENST00000359246.4	37	c.70	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226674	0.58668	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.12984	2.63;2.63	2.19	2.19	0.27852	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.51477	U	0.000082	T	0.47097	0.1427	H	0.95611	3.695	0.42183	D	0.991691	D	0.89917	1.0	D	0.83275	0.996	T	0.64002	-0.6509	10	0.87932	D	0	.	12.5599	0.56275	0.0:0.0:1.0:0.0	.	24	O75151	PHF2_HUMAN	H	24	ENSP00000352185:D24H;ENSP00000364525:D24H	ENSP00000352185:D24H	D	+	1	0	PHF2	95378946	1.000000	0.71417	0.997000	0.53966	0.658000	0.38924	6.998000	0.76277	0.939000	0.37446	0.163000	0.16589	GAC	PHF2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.761	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	G	NM_005392		96339125	1	no_errors	ENST00000359246	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96339125	G	C	96339125	3	2	10	1	0	0	0	0	1	0	0	0	11854	1058	37	1	72	1	PHF2	9	96339125	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	2702171	96339125	44874306	111	1121										
RAD23B	5887	genome.wustl.edu	37	chr9	110068879	110068879	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctaaacaagagaagcctgcaGaaaagccagcagagacacca	9	11	0	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:110068879G>A	ENST00000358015.3	+	4	799	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	RAD23B_ENST00000416373.2_Missense_Mutation_p.E78K	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	150					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGCCTGCAGAAAAGCCAGC	0.507								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													50	53	52					9																	110068879		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.448G>A	9.37:g.110068879G>A	ENSP00000350708:p.Glu150Lys		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.E150K	ENST00000358015.3	37	c.448	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104111	0.76983	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373	T;T	0.18338	2.25;2.22	5.61	5.61	0.85477	.	0.225389	0.46442	D	0.000293	T	0.40119	0.1104	M	0.63843	1.955	0.58432	D	0.999996	D;D;D	0.69078	0.993;0.997;0.993	D;D;D	0.73380	0.971;0.98;0.971	T	0.02345	-1.1173	10	0.23891	T	0.37	-4.9787	19.6415	0.95760	0.0:0.0:1.0:0.0	.	129;150;150	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	K	150;78;78	ENSP00000350708:E150K;ENSP00000405623:E78K	ENSP00000350708:E150K	E	+	1	0	RAD23B	109108700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.349000	0.66010	2.638000	0.89438	0.563000	0.77884	GAA	RAD23B	-	tigrfam_Rad23		0.507	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	G	NM_002874		110068879	1	no_errors	ENST00000358015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110068879	G	A	110068879	3	1	10	1	0	0	0	0	1	0	0	0	13013	943	33	1	462	1	RAD23B	9	110068879	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	13729754	110068879	31144552	112	1122										
CTNNAL1	8727	genome.wustl.edu	37	chr9	111745505	111745505	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttacagtcagtcacaatttCaatgaccttatccaatgcca	4	11	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:111745505C>G	ENST00000325551.4	-	6	906	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.E274Q|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.E274Q	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	274					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCACAATTTCAATGACCTTA	0.363																																																	0													152	137	142					9																	111745505		2203	4300	6503	SO:0001583	missense	8727			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.820G>C	9.37:g.111745505C>G	ENSP00000320434:p.Glu274Gln		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.E274Q	ENST00000325551.4	37	c.820	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337956	0.60963	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.37058	1.22;1.22;1.22	6.01	6.01	0.97437	.	0.089490	0.85682	D	0.000000	T	0.52484	0.1737	L	0.50919	1.6	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.877;0.999	D;D;P;D	0.71870	0.961;0.975;0.721;0.961	T	0.26018	-1.0115	10	0.13853	T	0.58	-12.6141	18.015	0.89236	0.0:1.0:0.0:0.0	.	274;274;274;274	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	Q	274	ENSP00000363723:E274Q;ENSP00000320434:E274Q;ENSP00000323351:E274Q	ENSP00000320434:E274Q	E	-	1	0	CTNNAL1	110785326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.756000	0.85195	2.861000	0.98227	0.650000	0.86243	GAA	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.363	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	C	NM_003798		111745505	-1	no_errors	ENST00000325551	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111745505	C	G	111745505	3	3	10	1	0	0	0	0	1	0	0	0	4020	835	29	1	1440	1	CTNNAL1	9	111745505	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	1676626	111745505	29467926	113	1123										
KIF12	113220	genome.wustl.edu	37	chr9	116854235	116854235	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gggagctgccaatctggtctCtgagggcctccagtctctgg	14	12	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:116854235C>T	ENST00000374118.3	-	16	1685	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	616	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AATCTGGTCTCTGAGGGCCTC	0.677																																																	0													33	35	34					9																	116854235		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1448G>A	9.37:g.116854235C>T	ENSP00000363232:p.Arg483Lys		Q5TBE0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R616K	ENST00000374118.3	37	c.1847	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780371	0.49891	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.73789	-0.78	3.86	1.93	0.25924	.	0.302757	0.28700	N	0.014434	T	0.54615	0.1869	L	0.29908	0.895	0.22280	N	0.999236	B	0.29766	0.256	B	0.24269	0.052	T	0.37798	-0.9690	10	0.30854	T	0.27	.	5.4732	0.16682	0.0:0.6718:0.2134:0.1148	.	616	Q96FN5	KIF12_HUMAN	K	483;616	ENSP00000363232:R483K	ENSP00000259410:R616K	R	-	2	0	KIF12	115894056	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	0.468000	0.22051	0.565000	0.29255	0.442000	0.29010	AGA	KIF12	-	NULL		0.677	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	C	NM_138424		116854235	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116854235	C	T	116854235	3	4	10	1	0	0	0	0	1	0	0	0	8293	913	32	1	97	1	KIF12	9	116854235	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	5108730	116854235	24359196	114	1124										
TNC	3371	genome.wustl.edu	37	chr9	117810761	117810761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	catccaggaaactgtgaaccCgtagggattaatgtcggaaa	11	8	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:117810761C>T	ENST00000350763.4	-	16	5041	c.4630G>A	c.(4630-4632)Ggg>Agg	p.G1544R	TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1180R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1544	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGTGAACCCGTAGGGATTA	0.502																																																	0													57	60	59					9																	117810761		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4630G>A	9.37:g.117810761C>T	ENSP00000265131:p.Gly1544Arg		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G1544R	ENST00000350763.4	37	c.4630	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364959	0.82463	.	.	ENSG00000041982	ENST00000340094;ENST00000350763	T;T	0.56444	0.46;0.46	5.73	5.73	0.89815	Fibronectin, type III (4);	0.000000	0.64402	D	0.000004	T	0.64811	0.2632	L	0.49126	1.545	0.80722	D	1	D	0.61697	0.99	P	0.58172	0.834	T	0.66135	-0.5999	10	0.72032	D	0.01	.	18.0735	0.89419	0.0:1.0:0.0:0.0	.	1544	P24821	TENA_HUMAN	R	1180;1544	ENSP00000344400:G1180R;ENSP00000265131:G1544R	ENSP00000344400:G1180R	G	-	1	0	TNC	116850582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.114000	0.77103	2.693000	0.91896	0.655000	0.94253	GGG	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117810761	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117810761	C	T	117810761	3	4	10	1	0	0	0	0	1	0	0	0	16300	652	23	2	2027	2	TNC	9	117810761	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	956526	117810761	23402670	115	1125										
TNC	3371	genome.wustl.edu	37	chr9	117838840	117838840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggaaacacgtcgaagattccTgggagcatcgaggcctgttt	13	9	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:117838840T>C	ENST00000350763.4	-	8	3100	c.2689A>G	c.(2689-2691)Agg>Ggg	p.R897G	TNC_ENST00000535648.1_Missense_Mutation_p.R897G|TNC_ENST00000346706.3_Missense_Mutation_p.R897G|TNC_ENST00000542877.1_Missense_Mutation_p.R897G|TNC_ENST00000537320.1_Missense_Mutation_p.R897G|TNC_ENST00000423613.2_Missense_Mutation_p.R897G|TNC_ENST00000345230.3_Missense_Mutation_p.R897G|TNC_ENST00000341037.4_Missense_Mutation_p.R897G|TNC_ENST00000340094.3_Missense_Mutation_p.R897G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	897	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGAAGATTCCTGGGAGCATCG	0.458																																																	0													257	236	243					9																	117838840		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2689A>G	9.37:g.117838840T>C	ENSP00000265131:p.Arg897Gly		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R897G	ENST00000350763.4	37	c.2689	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815488	0.70912	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.82	1.68	0.24146	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.228496	0.43260	D	0.000584	T	0.50000	0.1590	L	0.41906	1.305	0.34156	D	0.6681	P;B	0.41947	0.766;0.27	P;B	0.48873	0.593;0.314	T	0.55958	-0.8058	10	0.13108	T	0.6	.	15.6513	0.77095	0.0:0.0:0.4205:0.5795	.	897;897	E9PC84;P24821	.;TENA_HUMAN	G	897	ENSP00000344400:R897G;ENSP00000438152:R897G;ENSP00000344555:R897G;ENSP00000345861:R897G;ENSP00000265131:R897G;ENSP00000339553:R897G;ENSP00000411406:R897G;ENSP00000443478:R897G;ENSP00000442242:R897G	ENSP00000344400:R897G	R	-	1	2	TNC	116878661	0.045000	0.20229	0.999000	0.59377	0.996000	0.88848	1.562000	0.36353	0.410000	0.25675	0.528000	0.53228	AGG	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160		117838840	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.982	C	C	117838840	T	C	117838840	3	2	10	1	0	0	0	0	1	0	0	0	16300	1579	55	5	4000	5	TNC	9	117838840	Missense_Mutation	SNP	T	TCGA-C5-A1BL-01A-11D-A13W-08	28079	117838840	23374591	116	1126										
CUBN	8029	genome.wustl.edu	37	chr10	17110148	17110148	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aaactccagatgaaatgtttCgaacattaaatgaatcaggt	7	6	1	3	rs199835213		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:17110148C>G	ENST00000377833.4	-	21	2988	c.2923G>C	c.(2923-2925)Gaa>Caa	p.E975Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	975	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAATGTTTCGAACATTAAA	0.408																																																	0													141	134	136					10																	17110148		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2923G>C	10.37:g.17110148C>G	ENSP00000367064:p.Glu975Gln		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E975Q	ENST00000377833.4	37	c.2923	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	0.328	-0.957740	0.02267	.	.	ENSG00000107611	ENST00000377833	T	0.18338	2.22	5.55	-6.39	0.01951	CUB (5);	1.573020	0.03911	N	0.281847	T	0.07279	0.0184	N	0.11255	0.115	0.20563	N	0.999889	B	0.17038	0.02	B	0.22386	0.039	T	0.34625	-0.9821	10	0.14656	T	0.56	.	5.3483	0.16022	0.0976:0.4621:0.0997:0.3406	.	975	O60494	CUBN_HUMAN	Q	975	ENSP00000367064:E975Q	ENSP00000367064:E975Q	E	-	1	0	CUBN	17150154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-0.401000	0.07644	-0.880000	0.02959	GAA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		17110148	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.000	G	G	17110148	C	G	17110148	3	3	10	1	0	0	0	0	1	0	0	0	4056	893	31	1	8136	1	CUBN	10	17110148	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		17110148	118424599	117	1127										
ZNF25	219749	genome.wustl.edu	37	chr10	38242111	38242111	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgagttttctgatgttttgtGagttctccattcctagacag	9	7	2	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:38242111G>C	ENST00000302609.7	-	6	527	c.315C>G	c.(313-315)ctC>ctG	p.L105L	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GATGTTTTGTGAGTTCTCCAT	0.423																																																	0													82	82	82					10																	38242111		2203	4300	6503	SO:0001819	synonymous_variant	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.315C>G	10.37:g.38242111G>C			A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L105	ENST00000302609.7	37	c.315	CCDS7195.1	10																																																																																			ZNF25	-	NULL		0.423	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1	G	NM_145011, NM_006966		38242111	-1	no_errors	ENST00000302609	ensembl	human	known	70_37	silent	SNP	0.000	C	C	38242111	G	C	38242111	2	2	10	1	0	0	0	0	0	0	0	1	17824	1277	45	1		1	ZNF25	10	38242111	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	21131963	38242111	97292636	118	1128										
CDH23	64072	genome.wustl.edu	37	chr10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgacaaccctccagtcatcGagagcccctttggatacaat	7	13	1	2	rs201533282	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587													G|||	2	0.000399361	0	0	5008	,	,		18011	0		0.002	False		,,,				2504	0																0								G	LYS/GLU	0,4074		0,0,2037	83	88	86		4582	4.9	1	10	dbSNP_134	86	2,8376		0,2,4187	yes	missense	CDH23	NM_022124.5	56	0,2,6224	AA,AG,GG		0.0239,0.0,0.0161	possibly-damaging	1528/3355	73500672	2,12450	2037	4189	6226	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4597G>A	10.37:g.73500672G>A	ENSP00000224721:p.Glu1533Lys		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1531K	ENST00000224721.6	37	c.4591		10	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	CDH23	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG	CDH23	-	superfamily_Cadherin-like		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73500672	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73500672	G	A	73500672	3	1	10	1	0	0	0	0	1	0	0	0	3113	1059	37	1	5069	1	CDH23	10	73500672	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	35258561	73500672	62034075	119	1129										
CHST3	9469	genome.wustl.edu	37	chr10	73767018	73767018	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcttagctgagaacgcatctCtcttgtccctgagcgagctc	9	13	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:73767018C>T	ENST00000373115.4	+	3	666	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	77					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GAACGCATCTCTCTTGTCCCT	0.592																																																	0													90	82	85					10																	73767018		2203	4300	6503	SO:0001583	missense	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.229C>T	10.37:g.73767018C>T	ENSP00000362207:p.Leu77Phe		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.L77F	ENST00000373115.4	37	c.229	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831417	0.50845	.	.	ENSG00000122863	ENST00000373115	D	0.97430	-4.38	5.58	5.58	0.84498	.	0.183014	0.38548	N	0.001653	D	0.95674	0.8593	L	0.55481	1.735	0.46185	D	0.998915	B	0.26147	0.143	B	0.23275	0.045	D	0.93578	0.6910	10	0.66056	D	0.02	-41.5735	18.5479	0.91054	0.0:1.0:0.0:0.0	.	77	Q7LGC8	CHST3_HUMAN	F	77	ENSP00000362207:L77F	ENSP00000362207:L77F	L	+	1	0	CHST3	73437024	0.996000	0.38824	0.949000	0.38748	0.451000	0.32288	3.710000	0.54860	2.641000	0.89580	0.561000	0.74099	CTC	CHST3	-	pirsf_Carbohydrate_sulfotransferase		0.592	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	C	NM_004273		73767018	1	no_errors	ENST00000373115	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73767018	C	T	73767018	3	4	10	1	0	0	0	0	1	0	0	0	3410	913	32	1	235	1	CHST3	10	73767018	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	266346	73767018	61767729	120	1130										
SORBS1	10580	genome.wustl.edu	37	chr10	97135792	97135792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttcattctttaaatctatctCttctgggcttatatcccgac	4	11	5	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:97135792C>G	ENST00000361941.3	-	17	1701	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	SORBS1_ENST00000371227.4_Missense_Mutation_p.E513Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E358Q|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.E444Q|SORBS1_ENST00000371245.3_Missense_Mutation_p.E444Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E529Q|SORBS1_ENST00000277982.5_Missense_Mutation_p.E581Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.E529Q|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000607232.1_Missense_Mutation_p.E348Q|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.E581Q|SORBS1_ENST00000371247.2_Missense_Mutation_p.E559Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.E427Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAATCTATCTCTTCTGGGCTT	0.368																																																	0													76	78	78					10																	97135792		2203	4300	6503	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1675G>C	10.37:g.97135792C>G	ENSP00000355136:p.Glu559Gln			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.E559Q	ENST00000361941.3	37	c.1675	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861497	0.91433	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.77	5.77	0.91146	.	0.000000	0.36740	N	0.002429	T	0.60650	0.2285	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.992;1.0;0.995;0.997;0.999	D;D;D;D;D;D	0.85130	0.992;0.921;0.997;0.971;0.945;0.98	T	0.61073	-0.7136	10	0.56958	D	0.05	-17.2285	19.9981	0.97395	0.0:1.0:0.0:0.0	.	513;444;559;581;427;529	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	Q	444;559;513;581;529;444;427;559;581;529;358	ENSP00000360291:E444Q;ENSP00000360293:E559Q;ENSP00000360271:E513Q;ENSP00000360292:E581Q;ENSP00000377521:E529Q;ENSP00000343998:E444Q;ENSP00000277985:E427Q;ENSP00000355136:E559Q;ENSP00000277982:E581Q;ENSP00000277984:E529Q;ENSP00000360283:E358Q	ENSP00000277982:E581Q	E	-	1	0	SORBS1	97125782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.729000	0.93468	0.655000	0.94253	GAG	SORBS1	-	NULL		0.368	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97135792	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97135792	C	G	97135792	3	3	10	1	0	0	0	0	1	0	0	0	14957	922	32	1	2327	1	SORBS1	10	97135792	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	23368774	97135792	38398955	121	1131										
SUFU	51684	genome.wustl.edu	37	chr10	104375151	104375151	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccggagccctcattcctctCtgcctaaggtgagcgagaca	10	14	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:104375151C>G	ENST00000369902.3	+	9	1315	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	SUFU_ENST00000423559.2_Silent_p.L383L|SUFU_ENST00000369899.2_Silent_p.L383L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	383					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCATTCCTCTCTGCCTAAGGT	0.612			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													93	83	86					10																	104375151		2203	4300	6503	SO:0001819	synonymous_variant	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1149C>G	10.37:g.104375151C>G			Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.L383	ENST00000369902.3	37	c.1149	CCDS7537.1	10																																																																																			SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_protein		0.612	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	C	NM_016169		104375151	1	no_errors	ENST00000369902	ensembl	human	known	70_37	silent	SNP	0.999	G	G	104375151	C	G	104375151	2	3	10	1	0	0	0	0	0	0	0	1	15398	900	32	1		1	SUFU	10	104375151	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	7239359	104375151	31159596	122	1132										
PHRF1	57661	genome.wustl.edu	37	chr11	610993	610993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgcaggagcgtgctgtggagGaggtgaagctggccatcaag	18	7	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:610993G>A	ENST00000264555.5	+	17	4845	c.4717G>A	c.(4717-4719)Gag>Aag	p.E1573K	PHRF1_ENST00000413872.2_Missense_Mutation_p.E1571K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E1572K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E1569K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1573					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCTGTGGAGGAGGTGAAGCT	0.597																																																	0													91	93	92					11																	610993		2202	4300	6502	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4717G>A	11.37:g.610993G>A	ENSP00000264555:p.Glu1573Lys		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1573K	ENST00000264555.5	37	c.4717		11	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661261	0.67700	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.34	4.34	0.51931	.	0.000000	0.36338	N	0.002643	D	0.83198	0.5202	M	0.82823	2.61	0.58432	D	0.999997	D;D;D;D	0.89917	0.982;0.999;1.0;1.0	D;D;D;D	0.87578	0.952;0.997;0.998;0.996	D	0.86561	0.1841	10	0.87932	D	0	-37.3089	17.7367	0.88395	0.0:0.0:1.0:0.0	.	1569;1571;1572;1573	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	1573;1571;1572;1569	ENSP00000264555:E1573K;ENSP00000388589:E1571K;ENSP00000410626:E1572K;ENSP00000431870:E1569K	ENSP00000264555:E1573K	E	+	1	0	PHRF1	600993	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.781000	0.99029	2.370000	0.80446	0.561000	0.74099	GAG	PHRF1	-	NULL		0.597	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	G	NM_020901		610993	1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	1.000	A	A	610993	G	A	610993	3	1	10	1	0	0	0	0	1	0	0	0	11885	1175	41	1	4776	1	PHRF1	11	610993	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		610993	134395523	123	1133										
APBB1	322	genome.wustl.edu	37	chr11	6423916	6423916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccaggggccagctcctcctCggtcatctctacccagccta	8	18	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:6423916C>T	ENST00000609360.1	-	7	1243	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	APBB1_ENST00000299402.6_Missense_Mutation_p.E382K|APBB1_ENST00000608394.1_Missense_Mutation_p.E123K|APBB1_ENST00000389906.2_Missense_Mutation_p.E382K|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000609331.1_Missense_Mutation_p.E147K|APBB1_ENST00000608645.1_Missense_Mutation_p.E123K|APBB1_ENST00000530885.1_Missense_Mutation_p.E162K|APBB1_ENST00000311051.3_Missense_Mutation_p.E382K|APBB1_ENST00000608655.1_Missense_Mutation_p.E162K|APBB1_ENST00000608704.1_Missense_Mutation_p.E123K	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	382	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E382K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCTCCTCCTCGGTCATCTCT	0.572																																					GBM(147;1810 2556 5672 39622)												1	Substitution - Missense(1)	breast(1)											84	81	82					11																	6423916		2201	4296	6497	SO:0001583	missense	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1144G>A	11.37:g.6423916C>T	ENSP00000477213:p.Glu382Lys		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.E382K	ENST00000609360.1	37	c.1144		11	.	.	.	.	.	.	.	.	.	.	C	35	5.592168	0.96590	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.39911	0.1096	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.80764	0.987;0.978;0.982;0.994	T	0.18999	-1.0319	10	0.45353	T	0.12	-14.0781	16.1907	0.81987	0.0:1.0:0.0:0.0	.	231;147;162;382	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	K	382;382;382;231;123;147;162;123	ENSP00000299402:E382K;ENSP00000311912:E382K;ENSP00000374556:E382K;ENSP00000433338:E162K;ENSP00000437114:E123K	ENSP00000299402:E382K	E	-	1	0	APBB1	6380492	1.000000	0.71417	0.922000	0.36590	0.966000	0.64601	7.688000	0.84153	2.497000	0.84241	0.591000	0.81541	GAG	APBB1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	C	NM_001164		6423916	-1	no_errors	ENST00000389906	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6423916	C	T	6423916	3	4	10	1	0	0	0	0	1	0	0	0	759	893	31	1	1020	1	APBB1	11	6423916	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	5812923	6423916	128582600	124	1134										
TUB	7275	genome.wustl.edu	37	chr11	8120384	8120384	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cctcatcctccactttggaaAgtggaaccttacgtcaggag	9	12	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:8120384A>T	ENST00000299506.2	+	9	1227	c.1078A>T	c.(1078-1080)Agt>Tgt	p.S360C	TUB_ENST00000305253.4_Missense_Mutation_p.S415C|TUB_ENST00000534099.1_Missense_Mutation_p.S366C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	360					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CACTTTGGAAAGTGGAACCTT	0.488											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138	127	131					11																	8120384		2201	4296	6497	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1078A>T	11.37:g.8120384A>T	ENSP00000299506:p.Ser360Cys	646	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.S415C	ENST00000299506.2	37	c.1243	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671034	0.47781	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96459	-4.02;-4.02;-4.02	5.27	2.91	0.33838	Tubby, C-terminal (3);	0.178859	0.64402	D	0.000014	D	0.90769	0.7102	L	0.28192	0.835	0.42558	D	0.993138	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.0;0.003	D	0.85460	0.1166	10	0.48119	T	0.1	-5.4599	6.1853	0.20493	0.6348:0.0:0.3652:0.0	.	366;360;415	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	366;415;360	ENSP00000434400:S366C;ENSP00000305426:S415C;ENSP00000299506:S360C	ENSP00000299506:S360C	S	+	1	0	TUB	8076960	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.767000	0.62286	0.939000	0.37446	0.454000	0.30748	AGT	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.488	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	A	NM_003320		8120384	1	no_errors	ENST00000305253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8120384	A	T	8120384	3	4	10	1	0	0	0	0	1	0	0	0	16773	72	3	5	1323	5	TUB	11	8120384	Missense_Mutation	SNP	A	TCGA-C5-A1BL-01A-11D-A13W-08	1696468	8120384	126886132	125	1135										
TEAD1	7003	genome.wustl.edu	37	chr11	12886424	12886424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttcttgccagaaggaaatctCgtgattttcattccaagcta	7	9	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:12886424C>T	ENST00000527575.1	+	4	420	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	TEAD1_ENST00000361985.2_Missense_Mutation_p.R103C|TEAD1_ENST00000527636.1_Missense_Mutation_p.R103C|TEAD1_ENST00000334310.6_Missense_Mutation_p.R88C|TEAD1_ENST00000361905.4_Missense_Mutation_p.R88C			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	103					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAGGAAATCTCGTGATTTTCA	0.458																																																	0													286	244	258					11																	12886424		2200	4294	6494	SO:0001583	missense	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.307C>T	11.37:g.12886424C>T	ENSP00000435977:p.Arg103Cys		A4FUP2|E7EV65	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS	p.R88C	ENST00000527575.1	37	c.262		11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215096	0.79352	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.80551	-0.1332	10	0.87932	D	0	-3.7182	19.9446	0.97177	0.0:1.0:0.0:0.0	.	103	P28347	TEAD1_HUMAN	C	88;103;103;88;103	ENSP00000355332:R88C;ENSP00000435233:R103C;ENSP00000435977:R103C;ENSP00000334754:R88C;ENSP00000354588:R103C	ENSP00000334754:R88C	R	+	1	0	TEAD1	12843000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.814000	0.96858	0.591000	0.81541	CGT	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF		0.458	TEAD1-002	NOVEL	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000386888.1	C	NM_021961		12886424	1	no_errors	ENST00000361905	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12886424	C	T	12886424	3	4	10	1	0	0	0	0	1	0	0	0	15768	884	31	1	317	1	TEAD1	11	12886424	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	4766040	12886424	122120092	126	1136										
ANO3	63982	genome.wustl.edu	37	chr11	26681913	26681913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aagtacttagttcaagaaatGatgtatgaggctgaactgga	11	4	1	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:26681913G>A	ENST00000256737.3	+	27	3720	c.2868G>A	c.(2866-2868)atG>atA	p.M956I	ANO3_ENST00000531568.1_Missense_Mutation_p.M810I|ANO3_ENST00000537978.1_Missense_Mutation_p.M940I|ANO3_ENST00000525139.1_Missense_Mutation_p.M940I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	956					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCAAGAAATGATGTATGAGG	0.428																																																	0													146	136	139					11																	26681913		2203	4299	6502	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2868G>A	11.37:g.26681913G>A	ENSP00000256737:p.Met956Ile		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.M956I	ENST00000256737.3	37	c.2868	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564308	0.45694	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70399	-0.47;-0.47;-0.48;-0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.29908	0.895	0.80722	D	1	D;D	0.62365	0.983;0.991	P;P	0.58130	0.833;0.833	T	0.67971	-0.5532	10	0.21540	T	0.41	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	858;956	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	940;940;956;858;810	ENSP00000440737:M940I;ENSP00000432576:M940I;ENSP00000256737:M956I;ENSP00000432394:M810I	ENSP00000256737:M956I	M	+	3	0	ANO3	26638489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.667000	0.90743	0.650000	0.86243	ATG	ANO3	-	NULL		0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26681913	1	no_errors	ENST00000256737	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26681913	G	A	26681913	3	1	10	1	0	0	0	0	1	0	0	0	698	1290	45	1	2974	1	ANO3	11	26681913	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	13795489	26681913	108324603	127	1137										
TRAF6	7189	genome.wustl.edu	37	chr11	36511976	36511977	+	Frame_Shift_Ins	INS	-	-	A													0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tggttcgtttgagctcacttINSacatacatactctgagtttc							TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:36511976_36511977insA	ENST00000526995.1	-	7	1226_1227	c.980_981insT	c.(979-981)gtafs	p.V327fs	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Frame_Shift_Ins_p.V327fs	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	327	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGAGCTCACTTACATACATACT	0.421																																																	0																																										SO:0001589	frameshift_variant	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.981dupT	11.37:g.36511977_36511977dupA	ENSP00000433623:p.Val327fs		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Frame_Shift_Ins	INS	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S328fs	ENST00000526995.1	37	c.981_980	CCDS7901.1	11																																																																																			TRAF6	-	pirsf_TNF_rcpt--assoc_TRAF		0.421	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	-	NM_145803		36511977	-1	no_errors	ENST00000348124	ensembl	human	known	70_37	frame_shift_ins	INS	0.444:0.899	A	A	36511977	-	A	36511976	7	5	10	1	0	1	1	0	0	0	0	0	16476	1741	61	0	591	0	TRAF6	11	36511976	Frame_Shift_Ins	INS	-	TCGA-C5-A1BL-01A-11D-A13W-08	9830063	36511976	98494540	128	1138										
OR4C12	283093	genome.wustl.edu	37	chr11	50003766	50003766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gagccatacacccattaaagGagatgattttcttctcttga	7	9	2	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:50003766G>A	ENST00000335238.4	-	1	305	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCATTAAAGGAGATGATTTT	0.428																																																	0													108	108	108					11																	50003766		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.272C>T	11.37:g.50003766G>A	ENSP00000334418:p.Ser91Phe		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S91F	ENST00000335238.4	37	c.272	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418751	0.25552	.	.	ENSG00000221954	ENST00000335238	T	0.00745	5.75	3.31	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	U	0.000805	T	0.02767	0.0083	H	0.97340	3.985	0.23747	N	0.996951	B	0.17667	0.023	B	0.20577	0.03	T	0.18524	-1.0334	10	0.72032	D	0.01	.	8.8912	0.35434	0.1198:0.0:0.8802:0.0	.	91	Q96R67	OR4CC_HUMAN	F	91	ENSP00000334418:S91F	ENSP00000334418:S91F	S	-	2	0	OR4C12	49960342	1.000000	0.71417	0.527000	0.27925	0.946000	0.59487	3.973000	0.56845	0.716000	0.32124	0.398000	0.26397	TCC	OR4C12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.428	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	G	NM_001005270		50003766	-1	no_errors	ENST00000335238	ensembl	human	known	70_37	missense	SNP	0.635	A	A	50003766	G	A	50003766	3	1	10	1	0	0	0	0	1	0	0	0	11070	1174	41	1	661	1	OR4C12	11	50003766	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	13491790	50003766	85002750	129	1139										
NPAS4	266743	genome.wustl.edu	37	chr11	66188674	66188674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	taccgctccaccaagggcgcCtccaaggcgcgccgggacca	12	18	0	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:66188674C>T	ENST00000311034.2	+	1	200	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	8	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAAGGGCGCCTCCAAGGCGC	0.701																																																	0													26	24	25					11																	66188674		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.24C>T	11.37:g.66188674C>T			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.A8	ENST00000311034.2	37	c.24	CCDS8138.1	11																																																																																			NPAS4	-	NULL		0.701	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	C	NM_178864		66188674	1	no_errors	ENST00000311034	ensembl	human	known	70_37	silent	SNP	0.995	T	T	66188674	C	T	66188674	2	4	10	1	0	0	0	0	0	0	0	1	10589	668	24	4		4	NPAS4	11	66188674	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	16184908	66188674	68817842	130	1140										
PELI3	246330	genome.wustl.edu	37	chr11	66240739	66240739	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gctccacagagaacatgattGacttcgtggtaacagacacg	10	10	0	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:66240739G>A	ENST00000320740.7	+	6	644	c.484G>A	c.(484-486)Gac>Aac	p.D162N	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.D138N|PELI3_ENST00000524466.1_Missense_Mutation_p.D162N|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	162					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GAACATGATTGACTTCGTGGT	0.597																																																	0													68	68	68					11																	66240739		2200	4295	6495	SO:0001583	missense	246330			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.484G>A	11.37:g.66240739G>A	ENSP00000322532:p.Asp162Asn		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino	p.D162N	ENST00000320740.7	37	c.484	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.526340	0.96431	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.83628	0.0143	10	0.87932	D	0	-40.0078	16.2303	0.82332	0.0:0.0:1.0:0.0	.	138;162;162	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	N	138;162;162;55	ENSP00000309848:D138N;ENSP00000322532:D162N;ENSP00000434677:D162N;ENSP00000436722:D55N	ENSP00000322532:D162N	D	+	1	0	PELI3	65997315	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	9.657000	0.98554	2.688000	0.91661	0.655000	0.94253	GAC	PELI3	-	pfam_Pellino		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	G	NM_145065		66240739	1	no_errors	ENST00000320740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66240739	G	A	66240739	3	1	10	1	0	0	0	0	1	0	0	0	11747	1290	45	1	502	1	PELI3	11	66240739	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	52065	66240739	68765777	131	1141										
SERPINH1	871	genome.wustl.edu	37	chr11	75277832	75277832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtgagcttcgctgatgacttCgtgcgcagcagcaagcagca	13	11	0	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:75277832C>T	ENST00000524558.1	+	2	1873	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SERPINH1_ENST00000533603.1_Silent_p.F146F|SERPINH1_ENST00000530284.1_Silent_p.F146F|SERPINH1_ENST00000358171.3_Silent_p.F146F|SERPINH1_ENST00000525876.1_5'Flank			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	146					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CTGATGACTTCGTGCGCAGCA	0.622																																																	0													44	43	43					11																	75277832		2200	4293	6493	SO:0001819	synonymous_variant	871			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.438C>T	11.37:g.75277832C>T			B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F146	ENST00000524558.1	37	c.438	CCDS8239.1	11																																																																																			SERPINH1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.622	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINH1	HGNC	protein_coding	OTTHUMT00000383610.1	C	NM_004353		75277832	1	no_errors	ENST00000358171	ensembl	human	known	70_37	silent	SNP	0.997	T	T	75277832	C	T	75277832	2	4	10	1	0	0	0	0	0	0	0	1	14147	883	31	1		1	SERPINH1	11	75277832	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	9037093	75277832	59728684	132	1142										
FZD4	8322	genome.wustl.edu	37	chr11	86665891	86665891	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgagcggtgtgaaagttgtCagctgcagctcggcgtccgt	15	9	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:86665891C>G	ENST00000531380.1	-	1	542	c.237G>C	c.(235-237)ctG>ctC	p.L79L	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	79	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAAAGTTGTCAGCTGCAGCT	0.662																																																	0													34	32	33					11																	86665891		2201	4299	6500	SO:0001819	synonymous_variant	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.237G>C	11.37:g.86665891C>G			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L79	ENST00000531380.1	37	c.237	CCDS8279.1	11																																																																																			FZD4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.662	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	C	NM_012193		86665891	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	silent	SNP	1.000	G	G	86665891	C	G	86665891	2	3	10	1	0	0	0	0	0	0	0	1	6150	813	29	1		1	FZD4	11	86665891	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	11388059	86665891	48340625	133	1143										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103187327	103187327	+	Frame_Shift_Del	DEL	C	C	-													0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gatcttcgggctgggtacaaCattattgacagactttttga					rs144624858	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:103187327delC	ENST00000375735.2	+	80	11847	c.11703delC	c.(11701-11703)aacfs	p.N3901fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.N3908fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3901	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGTACAACATTATTGACA	0.274																																																	0													43	40	41					11																	103187327		1773	4035	5808	SO:0001589	frameshift_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11703delC	11.37:g.103187327delC	ENSP00000364887:p.Asn3901fs		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3908fs	ENST00000375735.2	37	c.11724	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom		0.274	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103187327	1	no_errors	ENST00000398093	ensembl	human	known	70_37	frame_shift_del	DEL	0.996	-	-	103187327	C	-	103187327	7	5	10	1	0	1	0	1	0	0	0	0	4856	477	17	0	12046	0	DYNC2H1	11	103187327	Frame_Shift_Del	DEL	C	TCGA-C5-A1BL-01A-11D-A13W-08	16521436	103187327	31819189	134	1144										
ACRBP	84519	genome.wustl.edu	37	chr12	6752714	6752714	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggctggcataccgacttcccGaaaccaaggatctcctcctc	8	16	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:6752714G>A	ENST00000229243.2	-	6	1161	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Silent_p.F323F	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCGACTTCCCGAAACCAAGGA	0.552																																																	0													129	102	111					12																	6752714		2203	4300	6503	SO:0001819	synonymous_variant	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1068C>T	12.37:g.6752714G>A				Silent	SNP	pfam_Proacrosin-bd	p.F356	ENST00000229243.2	37	c.1068	CCDS8554.1	12																																																																																			ACRBP	-	NULL		0.552	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	G	NM_032489		6752714	-1	no_errors	ENST00000229243	ensembl	human	known	70_37	silent	SNP	0.838	A	A	6752714	G	A	6752714	2	1	10	1	0	0	0	0	0	0	0	1	170	1049	37	1		1	ACRBP	12	6752714	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		6752714	127099181	135	1145										
MCRS1	10445	genome.wustl.edu	37	chr12	49958304	49958304	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gagcagggcgtaccaacgctCctggacctcccgaagggtga	14	13	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:49958304C>G	ENST00000550165.1	-	7	783	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	MCRS1_ENST00000357123.4_Missense_Mutation_p.E186Q|MCRS1_ENST00000343810.4_Missense_Mutation_p.E173Q|MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	173					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TACCAACGCTCCTGGACCTCC	0.602																																																	0													46	40	42					12																	49958304		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.517G>C	12.37:g.49958304C>G	ENSP00000448056:p.Glu173Gln		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E186Q	ENST00000550165.1	37	c.556	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216858	0.58452	.	.	ENSG00000187778	ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334;ENST00000548596	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.20986	0.625	0.80722	D	1	P;B;B	0.44429	0.835;0.014;0.012	B;B;B	0.43728	0.429;0.026;0.008	T	0.21381	-1.0247	9	0.07175	T	0.84	-40.664	17.4356	0.87550	0.0:1.0:0.0:0.0	.	160;173;186	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	Q	173;173;186;160;173;173	.	ENSP00000345358:E173Q	E	-	1	0	MCRS1	48244571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.613000	0.82986	2.720000	0.93068	0.655000	0.94253	GAG	MCRS1	-	NULL		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	C	NM_006337		49958304	-1	no_errors	ENST00000357123	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49958304	C	G	49958304	3	3	10	1	0	0	0	0	1	0	0	0	9422	864	30	1	911	1	MCRS1	12	49958304	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	43205590	49958304	83893591	136	1146										
MCRS1	10445	genome.wustl.edu	37	chr12	49958552	49958552	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atttatgagcaggaggtcatCtgcaggcttccagcggccca	12	11	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:49958552C>T	ENST00000550165.1	-	6	681	c.415G>A	c.(415-417)Gat>Aat	p.D139N	MCRS1_ENST00000357123.4_Missense_Mutation_p.D152N|MCRS1_ENST00000343810.4_Missense_Mutation_p.D139N|MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	139					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						AGGAGGTCATCTGCAGGCTTC	0.587																																																	0													93	86	88					12																	49958552		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.415G>A	12.37:g.49958552C>T	ENSP00000448056:p.Asp139Asn		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D152N	ENST00000550165.1	37	c.454	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.488399	0.96323	.	.	ENSG00000187778	ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334;ENST00000548596;ENST00000549528	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.97110	0.846;1.0;1.0	D	0.85906	0.1437	9	0.87932	D	0	-19.7284	16.3249	0.82975	0.0:1.0:0.0:0.0	.	126;139;152	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	N	139;139;152;126;139;139;143	.	ENSP00000345358:D139N	D	-	1	0	MCRS1	48244819	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.441000	0.80485	2.720000	0.93068	0.655000	0.94253	GAT	MCRS1	-	NULL		0.587	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	C	NM_006337		49958552	-1	no_errors	ENST00000357123	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49958552	C	T	49958552	3	4	10	1	0	0	0	0	1	0	0	0	9422	913	32	1	1017	1	MCRS1	12	49958552	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	248	49958552	83893343	137	1147										
LIMA1	51474	genome.wustl.edu	37	chr12	50625463	50625463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cttacacttctcttcttctcCatgtttgtttcttcagctgc	4	13	5	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:50625463C>T	ENST00000341247.4	-	3	299	c.150G>A	c.(148-150)atG>atA	p.M50I	LIMA1_ENST00000394943.3_Missense_Mutation_p.M50I|RP3-405J10.4_ENST00000551284.1_RNA|MIR1293_ENST00000408677.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	50					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTTCTTCTCCATGTTTGTTT	0.408																																																	0													181	160	167					12																	50625463		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.150G>A	12.37:g.50625463C>T	ENSP00000340184:p.Met50Ile		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.M50I	ENST00000341247.4	37	c.150	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151715	0.21371	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.83673	-1.75;-1.01	5.08	3.22	0.36961	.	0.483083	0.23500	N	0.047508	T	0.75997	0.3926	M	0.63428	1.95	0.58432	D	0.999997	B;B	0.24092	0.097;0.057	B;B	0.18871	0.023;0.023	T	0.70487	-0.4858	10	0.34782	T	0.22	.	5.4863	0.16751	0.1628:0.6578:0.0:0.1794	.	59;50	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	I	50	ENSP00000378400:M50I;ENSP00000340184:M50I	ENSP00000340184:M50I	M	-	3	0	LIMA1	48911730	0.978000	0.34361	0.987000	0.45799	0.924000	0.55760	0.219000	0.17641	1.276000	0.44395	0.591000	0.81541	ATG	LIMA1	-	NULL		0.408	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	C	NM_016357		50625463	-1	no_errors	ENST00000394943	ensembl	human	known	70_37	missense	SNP	0.610	T	T	50625463	C	T	50625463	3	4	10	1	0	0	0	0	1	0	0	0	8816	594	21	4	2168	4	LIMA1	12	50625463	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	666911	50625463	83226432	138	1148										
CALCOCO1	57658	genome.wustl.edu	37	chr12	54109651	54109651	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cttcaagtgcaaaccgagctCagccagcctgccgttaactt	8	14	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:54109651C>T	ENST00000550804.1	-	9	1246	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E396K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E396K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E311K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	396					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AAACCGAGCTCAGCCAGCCTG	0.607																																																	0													50	46	48					12																	54109651		2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1186G>A	12.37:g.54109651C>T	ENSP00000449960:p.Glu396Lys		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.E396K	ENST00000550804.1	37	c.1186	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.295993	0.95574	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	4.91	4.91	0.64330	.	0.000000	0.43579	D	0.000557	T	0.27697	0.0681	L	0.57536	1.79	0.49483	D	0.999799	D;P;D;D;P;D	0.64830	0.994;0.945;0.972;0.982;0.945;0.978	P;P;P;P;P;P	0.62298	0.9;0.767;0.737;0.78;0.767;0.829	T	0.00237	-1.1890	10	0.48119	T	0.1	-24.6973	17.4107	0.87485	0.0:1.0:0.0:0.0	.	389;311;396;396;311;396	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	K	73;311;396;334;396;396;389	ENSP00000397189:E311K;ENSP00000262059:E396K;ENSP00000447647:E396K;ENSP00000449960:E396K	ENSP00000262059:E396K	E	-	1	0	CALCOCO1	52395918	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.583000	0.67484	2.713000	0.92767	0.655000	0.94253	GAG	CALCOCO1	-	pfam_CoCoA		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54109651	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54109651	C	T	54109651	3	4	10	1	0	0	0	0	1	0	0	0	2582	835	29	1	917	1	CALCOCO1	12	54109651	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	3484188	54109651	79742244	139	1149										
ITGA7	3679	genome.wustl.edu	37	chr12	56094855	56094855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cggatggccaggtcctggctGagcacaaagcagcgaccaat	13	12	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:56094855G>A	ENST00000555728.1	-	4	526	c.498C>T	c.(496-498)ctC>ctT	p.L166L	ITGA7_ENST00000553804.1_Silent_p.L166L|ITGA7_ENST00000394230.2_Silent_p.L166L|ITGA7_ENST00000347027.6_Silent_p.L166L|ITGA7_ENST00000257880.7_Silent_p.L166L|ITGA7_ENST00000452168.2_Silent_p.L69L|ITGA7_ENST00000394229.2_Silent_p.L166L|ITGA7_ENST00000257879.6_Silent_p.L166L			Q13683	ITA7_HUMAN	integrin, alpha 7	166					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTCCTGGCTGAGCACAAAGC	0.587																																																	0													121	106	111					12																	56094855		2203	4300	6503	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.498C>T	12.37:g.56094855G>A			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L166	ENST00000555728.1	37	c.498		12																																																																																			ITGA7	-	NULL		0.587	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56094855	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	silent	SNP	0.627	A	A	56094855	G	A	56094855	2	1	10	1	0	0	0	0	0	0	0	1	7901	1277	45	1		1	ITGA7	12	56094855	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1985204	56094855	77757040	140	1150										
PLXNC1	10154	genome.wustl.edu	37	chr12	94676114	94676114	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cagaaagaacttctggacatCgacagttcctccgtgattct	8	11	2	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:94676114C>T	ENST00000258526.4	+	23	4065	c.3816C>T	c.(3814-3816)atC>atT	p.I1272I	PLXNC1_ENST00000547057.1_Silent_p.I319I|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Silent_p.I11I|RP11-1105G2.3_ENST00000551941.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1272					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCTGGACATCGACAGTTCCT	0.428																																																	0													137	130	132					12																	94676114		2203	4300	6503	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3816C>T	12.37:g.94676114C>T			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I1272	ENST00000258526.4	37	c.3816	CCDS9049.1	12																																																																																			PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.428	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94676114	1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	0.959	T	T	94676114	C	T	94676114	2	4	10	1	0	0	0	0	0	0	0	1	12150	874	31	1		1	PLXNC1	12	94676114	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	38581259	94676114	39175781	141	1151										
C12orf63	144535	genome.wustl.edu	37	chr12	97087524	97087524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgcctctccttgcattgtatCaatattttgtttctggaatt	6	8	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:97087524C>G	ENST00000524981.4	+	45	6312	c.6289C>G	c.(6289-6291)Caa>Gaa	p.Q2097E				Q96N23	CL055_HUMAN		0																	TGCATTGTATCAATATTTTGT	0.294																																																	0													127	127	127					12																	97087524		2202	4295	6497	SO:0001583	missense	144535																														ENST00000524981.4:c.6289C>G	12.37:g.97087524C>G	ENSP00000431759:p.Gln2097Glu			Missense_Mutation	SNP	NULL	p.Q522E	ENST00000524981.4	37	c.1564		12	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898311	0.33535	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	6.08	6.08	0.98989	.	0.156689	0.46442	D	0.000281	T	0.79656	0.4483	.	.	.	0.41124	D	0.985832	D	0.69078	0.997	P	0.61800	0.894	T	0.80647	-0.1289	8	0.87932	D	0	-18.5554	20.6634	0.99662	0.0:1.0:0.0:0.0	.	522	Q6ZTY8	CL063_HUMAN	E	2097;522	.	ENSP00000345466:Q522E	Q	+	1	0	C12orf63	95611655	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.552000	0.53705	2.894000	0.99253	0.655000	0.94253	CAA	C12orf55	-	NULL		0.294	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97087524	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97087524	C	G	97087524	3	3	10	1	0	0	0	0	1	0	0	0	1710	827	29	1	1606	1	C12orf63	12	97087524	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	2411410	97087524	36764371	142	1152										
SLC17A8	246213	genome.wustl.edu	37	chr12	100787219	100787219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tctgcagccagagtgcattaCggatgcgtcatgtgtgtcag	13	9	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:100787219C>T	ENST00000323346.5	+	4	859	c.546C>T	c.(544-546)taC>taT	p.Y182Y	SLC17A8_ENST00000392989.3_Silent_p.Y182Y	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	182					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GAGTGCATTACGGATGCGTCA	0.453																																																	0													220	186	197					12																	100787219		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.546C>T	12.37:g.100787219C>T			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y182	ENST00000323346.5	37	c.546	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100787219	1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	0.978	T	T	100787219	C	T	100787219	2	4	10	1	0	0	0	0	0	0	0	1	14453	547	19	2		2	SLC17A8	12	100787219	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	3699695	100787219	33064676	143	1153										
STAB2	55576	genome.wustl.edu	37	chr12	104092950	104092950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cctgcacaatggcatgcatcGtgagaccatgctgggtttct	11	11	1	1	rs151309446	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:104092950G>A	ENST00000388887.2	+	34	3863	c.3659G>A	c.(3658-3660)cGt>cAt	p.R1220H		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCATGCATCGTGAGACCATG	0.478													.|||	2	0.000399361	8e-04	0	5008	,	,		21527	0		0	False		,,,				2504	0.001																0								G	HIS/ARG	0,4406		0,0,2203	195	158	171		3659	5.3	1	12	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB2	NM_017564.9	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1220/2552	104092950	1,13005	2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3659G>A	12.37:g.104092950G>A	ENSP00000373539:p.Arg1220His			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1220H	ENST00000388887.2	37	c.3659	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540096	0.65085	0.0	1.16E-4	ENSG00000136011	ENST00000388887	D	0.90324	-2.65	5.35	5.35	0.76521	FAS1 domain (5);Growth factor, receptor (1);	0.062767	0.64402	D	0.000010	D	0.94896	0.8350	M	0.68952	2.095	0.38711	D	0.953226	D	0.89917	1.0	D	0.91635	0.999	D	0.95620	0.8680	10	0.62326	D	0.03	.	19.0708	0.93136	0.0:0.0:1.0:0.0	.	1220	Q8WWQ8	STAB2_HUMAN	H	1220	ENSP00000373539:R1220H	ENSP00000373539:R1220H	R	+	2	0	STAB2	102617080	1.000000	0.71417	0.998000	0.56505	0.314000	0.28054	5.620000	0.67736	2.517000	0.84864	0.561000	0.74099	CGT	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_FAS1_domain,pfscan_FAS1_domain		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	G			104092950	1	no_errors	ENST00000388887	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104092950	G	A	104092950	3	1	10	1	0	0	0	0	1	0	0	0	15268	1145	40	2	3793	2	STAB2	12	104092950	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3305731	104092950	29758945	144	1154										
KIAA1033	23325	genome.wustl.edu	37	chr12	105558478	105558478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	attttcttcagagcagacaaGactgcggctgaagaaaacca	9	9	2	5			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:105558478G>A	ENST00000332180.5	+	32	3501	c.3414G>A	c.(3412-3414)aaG>aaA	p.K1138K	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGCAGACAAGACTGCGGCTG	0.323																																																	0													25	25	25					12																	105558478		1804	4066	5870	SO:0001819	synonymous_variant	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3414G>A	12.37:g.105558478G>A				Silent	SNP	NULL	p.K1138	ENST00000332180.5	37	c.3414	CCDS41826.1	12																																																																																			KIAA1033	-	NULL		0.323	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	G	NM_015275		105558478	1	no_errors	ENST00000332180	ensembl	human	known	70_37	silent	SNP	1.000	A	A	105558478	G	A	105558478	2	1	10	1	0	0	0	0	0	0	0	1	8226	933	33	1		1	KIAA1033	12	105558478	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1465528	105558478	28293417	145	1155										
MYO1H	283446	genome.wustl.edu	37	chr12	109834304	109834304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aggcctccaagaaaattctcGagtattttgcagtgacctgc	9	10	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:109834304G>A	ENST00000431443.2	+	3	358	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYO1H_ENST00000310903.5_Missense_Mutation_p.E120K	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	120	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GAAAATTCTCGAGTATTTTGC	0.493																																																	0													70	70	70					12																	109834304		1885	4114	5999	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.358G>A	12.37:g.109834304G>A	ENSP00000444076:p.Glu120Lys		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E120K	ENST00000431443.2	37	c.358		12	.	.	.	.	.	.	.	.	.	.	g	18.33	3.600281	0.66332	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.70749	-0.51;-0.51	4.8	3.91	0.45181	.	.	.	.	.	T	0.42108	0.1188	N	0.00859	-1.14	0.35962	D	0.834698	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.37606	T	0.19	.	15.1443	0.72637	0.0:0.8575:0.1425:0.0	.	120	F5H3C6	.	K	120	ENSP00000439182:E120K;ENSP00000444076:E120K	ENSP00000439182:E120K	E	+	1	0	MYO1H	108318687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.006000	0.70724	1.358000	0.45922	-0.140000	0.14226	GAG	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.493	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		G	NM_173597		109834304	1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109834304	G	A	109834304	3	1	10	1	0	0	0	0	1	0	0	0	10098	1059	37	1	368	1	MYO1H	12	109834304	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	4275826	109834304	24017591	146	1156										
NCOR2	9612	genome.wustl.edu	37	chr12	124914165	124914165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gggcctggactcacctcctgCtctgagaggccatcgatgat	12	13	2	2	rs199934660		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:124914165C>A	ENST00000405201.1	-	10	1143	c.1143G>T	c.(1141-1143)gaG>gaT	p.E381D	NCOR2_ENST00000397355.1_Missense_Mutation_p.E381D|NCOR2_ENST00000404621.1_Missense_Mutation_p.E380D|NCOR2_ENST00000356219.3_Missense_Mutation_p.E381D|NCOR2_ENST00000429285.2_Missense_Mutation_p.E380D|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	381					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCACCTCCTGCTCTGAGAGGC	0.672																																																	0								C	ASP/GLU,ASP/GLU,ASP/GLU	0,4178		0,0,2089	26	32	30		1140,1140,1143	3.6	1	12		30	1,8431		0,1,4215	no	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	45,45,45	0,1,6304	AA,AC,CC		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	380/2459,380/2505,381/2515	124914165	1,12609	2089	4216	6305	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1143G>T	12.37:g.124914165C>A	ENSP00000384018:p.Glu381Asp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E381D	ENST00000405201.1	37	c.1143	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793798	0.31777	0.0	1.19E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	3.57	3.57	0.40892	.	0.221522	0.37178	N	0.002201	T	0.63522	0.2518	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.993;0.993;0.996	D;D;D	0.75484	0.967;0.967;0.986	T	0.66744	-0.5846	10	0.87932	D	0	-27.8194	9.4939	0.38976	0.0:0.8375:0.0:0.1625	.	380;381;381	C9J0Q5;C9J239;C9JFD3	.;.;.	D	381;380;381;381;381;380;381;381	ENSP00000384018:E381D;ENSP00000384202:E380D;ENSP00000348551:E381D;ENSP00000380513:E381D;ENSP00000400281:E380D;ENSP00000402808:E381D;ENSP00000405367:E381D	ENSP00000348551:E381D	E	-	3	2	NCOR2	123480118	0.997000	0.39634	1.000000	0.80357	0.702000	0.40608	0.537000	0.23144	1.976000	0.57569	0.313000	0.20887	GAG	NCOR2	-	NULL		0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124914165	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124914165	C	A	124914165	3	1	10	1	0	0	0	0	1	0	0	0	10260	796	28	4	6577	4	NCOR2	12	124914165	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	15079861	124914165	8937730	147	1157										
PIWIL1	9271	genome.wustl.edu	37	chr12	130856118	130856118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cagagagccaaatctgtcacTgtcaaaccgcctttactacc	6	14	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:130856118T>C	ENST00000245255.3	+	21	2833	c.2561T>C	c.(2560-2562)cTg>cCg	p.L854P		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	854					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AATCTGTCACTGTCAAACCGC	0.433																																																	0													136	129	131					12																	130856118		2203	4300	6503	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2561T>C	12.37:g.130856118T>C	ENSP00000245255:p.Leu854Pro		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L854P	ENST00000245255.3	37	c.2561	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552345	0.86127	.	.	ENSG00000125207	ENST00000245255	T	0.16743	2.32	5.31	5.31	0.75309	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.57666	0.2069	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74112	-0.3770	10	0.87932	D	0	-13.1469	14.4539	0.67404	0.0:0.0:0.0:1.0	.	854	Q96J94	PIWL1_HUMAN	P	854	ENSP00000245255:L854P	ENSP00000245255:L854P	L	+	2	0	PIWIL1	129422071	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	8.012000	0.88631	1.992000	0.58205	0.533000	0.62120	CTG	PIWIL1	-	superfamily_RNaseH-like_dom		0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	T			130856118	1	no_errors	ENST00000245255	ensembl	human	known	70_37	missense	SNP	1.000	C	C	130856118	T	C	130856118	3	2	10	1	0	0	0	0	1	0	0	0	11981	1580	55	5	2639	5	PIWIL1	12	130856118	Missense_Mutation	SNP	T	TCGA-C5-A1BL-01A-11D-A13W-08	5941953	130856118	2995777	148	1158										
PAN3	255967	genome.wustl.edu	37	chr13	28866556	28866556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agaaaaaataagcctgatttCcagagatgagaagagtgtac	10	5	0	5			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:28866556C>T	ENST00000380958.3	+	19	2713	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	PAN3_ENST00000282391.5_Missense_Mutation_p.S542F|PAN3_ENST00000399613.1_Missense_Mutation_p.S654F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCCTGATTTCCAGAGATGAG	0.363																																																	0													144	136	139					13																	28866556		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2561C>T	13.37:g.28866556C>T	ENSP00000370345:p.Ser854Phe			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.S854F	ENST00000380958.3	37	c.2561	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567035	0.86439	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.62232	0.04;0.05;0.07	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.91663	3.23	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.76071	0.987;0.971;0.987	D	0.87491	0.2427	10	0.87932	D	0	-7.106	19.3517	0.94389	0.0:1.0:0.0:0.0	.	854;542;800	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	F	854;654;542	ENSP00000370345:S854F;ENSP00000382522:S654F;ENSP00000282391:S542F	ENSP00000282391:S542F	S	+	2	0	PAN3	27764556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.587000	0.87381	0.655000	0.94253	TCC	PAN3	-	NULL		0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	C	NM_175854		28866556	1	no_errors	ENST00000380958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28866556	C	T	28866556	3	4	10	1	0	0	0	0	1	0	0	0	11439	855	30	1	2635	1	PAN3	13	28866556	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		28866556	86303322	149	1159										
NAA16	79612	genome.wustl.edu	37	chr13	41936244	41936244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gaatgcatttcagcttatcaGcgtctggggagatacgggga	14	7	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:41936244G>T	ENST00000379406.3	+	13	1812	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	NAA16_ENST00000379367.3_Missense_Mutation_p.Q496H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	496					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CAGCTTATCAGCGTCTGGGGA	0.383																																																	0													127	124	125					13																	41936244		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1488G>T	13.37:g.41936244G>T	ENSP00000368716:p.Gln496His		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q496H	ENST00000379406.3	37	c.1488	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933483	0.34096	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.45668	0.89;0.89	5.56	3.78	0.43462	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.49047	0.1534	L	0.45352	1.415	0.52099	D	0.999949	P	0.52463	0.953	D	0.64687	0.928	T	0.32798	-0.9893	10	0.16420	T	0.52	-9.1137	10.2707	0.43481	0.2224:0.0:0.7776:0.0	.	496	Q6N069	NAA16_HUMAN	H	496	ENSP00000368674:Q496H;ENSP00000368716:Q496H	ENSP00000368674:Q496H	Q	+	3	2	NAA16	40834244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.459000	0.35234	0.680000	0.31366	0.655000	0.94253	CAG	NAA16	-	pirsf_NatA_aux_su		0.383	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	G	NM_018527		41936244	1	no_errors	ENST00000379406	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41936244	G	T	41936244	3	4	10	1	0	0	0	0	1	0	0	0	10142	962	34	4	1571	4	NAA16	13	41936244	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	13069688	41936244	73233634	150	1160										
SLITRK1	114798	genome.wustl.edu	37	chr13	84455071	84455071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agacctcctcatagggcagcGttttcagcctgttaccccgg	10	14	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:84455071G>T	ENST00000377084.2	-	1	1457	c.572C>A	c.(571-573)aCg>aAg	p.T191K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	191					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATAGGGCAGCGTTTTCAGCCT	0.527																																																	0													86	84	84					13																	84455071		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.572C>A	13.37:g.84455071G>T	ENSP00000366288:p.Thr191Lys		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T191K	ENST00000377084.2	37	c.572	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034779	0.35893	.	.	ENSG00000178235	ENST00000377084	T	0.53206	0.63	4.72	3.87	0.44632	.	0.053292	0.85682	D	0.000000	T	0.31451	0.0797	L	0.27053	0.805	0.58432	D	0.999996	P	0.38473	0.633	B	0.35278	0.199	T	0.05616	-1.0874	10	0.21540	T	0.41	-2.8918	11.7977	0.52110	0.086:0.0:0.9139:0.0	.	191	Q96PX8	SLIK1_HUMAN	K	191	ENSP00000366288:T191K	ENSP00000366288:T191K	T	-	2	0	SLITRK1	83353072	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.521000	0.67086	1.222000	0.43521	0.561000	0.74099	ACG	SLITRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.527	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84455071	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84455071	G	T	84455071	3	4	10	1	0	0	0	0	1	0	0	0	14772	1145	40	2	1522	2	SLITRK1	13	84455071	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	42518827	84455071	30714807	151	1161										
COL4A1	1282	genome.wustl.edu	37	chr13	110839653	110839653	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttggctcctggctggcctatCagccctggtgtaccttgagg	13	12	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:110839653C>T	ENST00000375820.4	-	25	1681	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	520	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTGGCCTATCAGCCCTGGTG	0.547																																																	0													47	47	47					13																	110839653		2203	4300	6503	SO:0001819	synonymous_variant	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1560G>A	13.37:g.110839653C>T			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L520	ENST00000375820.4	37	c.1560	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen		0.547	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	C			110839653	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	silent	SNP	0.910	T	T	110839653	C	T	110839653	2	4	10	1	0	0	0	0	0	0	0	1	3694	813	29	1		1	COL4A1	13	110839653	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	26384582	110839653	4330225	152	1162										
OR4M1	441670	genome.wustl.edu	37	chr14	20249054	20249054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtccggattgcctgtgccaaCaccttcccagaggagttagt	11	12	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:20249054C>A	ENST00000315957.4	+	1	654	c.573C>A	c.(571-573)aaC>aaA	p.N191K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGTGCCAACACCTTCCCAG	0.483																																																	0													322	279	294					14																	20249054		2203	4297	6500	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.573C>A	14.37:g.20249054C>A	ENSP00000319654:p.Asn191Lys		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N191K	ENST00000315957.4	37	c.573	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	15.52	2.856586	0.51376	.	.	ENSG00000176299	ENST00000315957	T	0.00107	8.72	4.43	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.116572	0.38663	N	0.001620	T	0.00144	0.0004	L	0.55017	1.72	0.33541	D	0.594887	B	0.21905	0.062	B	0.27262	0.078	T	0.42999	-0.9418	10	0.87932	D	0	-7.2801	7.2573	0.26183	0.0:0.6101:0.0:0.3899	.	191	Q8NGD0	OR4M1_HUMAN	K	191	ENSP00000319654:N191K	ENSP00000319654:N191K	N	+	3	2	OR4M1	19318894	0.000000	0.05858	0.999000	0.59377	0.984000	0.73092	-0.577000	0.05847	0.393000	0.25203	0.506000	0.49869	AAC	OR4M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.483	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	C			20249054	1	no_errors	ENST00000315957	ensembl	human	known	70_37	missense	SNP	0.996	A	A	20249054	C	A	20249054	3	1	10	1	0	0	0	0	1	0	0	0	11099	477	17	4	575	4	OR4M1	14	20249054	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		20249054	87100486	153	1163										
NFKBIA	4792	genome.wustl.edu	37	chr14	35872941	35872941	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aggaaggccaggtctcccttCacctggcggatcacttccat	10	14	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:35872941C>T	ENST00000216797.5	-	2	392	c.291G>A	c.(289-291)gtG>gtA	p.V97V	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Silent_p.V97V|NFKBIA_ENST00000557389.1_Silent_p.V7V	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	97					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GGTCTCCCTTCACCTGGCGGA	0.582																																																	0													82	68	73					14																	35872941		2203	4300	6503	SO:0001819	synonymous_variant	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.291G>A	14.37:g.35872941C>T			B2R8L6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V97	ENST00000216797.5	37	c.291	CCDS9656.1	14																																																																																			NFKBIA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	C	NM_020529		35872941	-1	no_errors	ENST00000216797	ensembl	human	known	70_37	silent	SNP	0.260	T	T	35872941	C	T	35872941	2	4	10	1	0	0	0	0	0	0	0	1	10401	813	29	1		1	NFKBIA	14	35872941	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	15623887	35872941	71476599	154	1164										
SLC25A21	89874	genome.wustl.edu	37	chr14	37283178	37283178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	caagcttttataactgtttgGatcggttgcacatctctgaa	8	8	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:37283178G>A	ENST00000331299.5	-	3	663	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RP11-81F13.2_ENST00000557642.1_RNA|SLC25A21_ENST00000555449.1_Missense_Mutation_p.P50S	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	50					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TAACTGTTTGGATCGGTTGCA	0.313																																																	0													75	75	75					14																	37283178		2203	4297	6500	SO:0001583	missense	89874			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.148C>T	14.37:g.37283178G>A	ENSP00000329452:p.Pro50Ser		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P50S	ENST00000331299.5	37	c.148	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387226	0.42308	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.78246	-1.16;-1.16	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.104285	0.64402	D	0.000002	T	0.67933	0.2946	N	0.20328	0.56	0.80722	D	1	P	0.34815	0.47	B	0.39465	0.3	T	0.63479	-0.6628	10	0.14656	T	0.56	-2.2475	17.1787	0.86849	0.0:0.0:1.0:0.0	.	50	Q9BQT8	ODC_HUMAN	S	50	ENSP00000451873:P50S;ENSP00000329452:P50S	ENSP00000329452:P50S	P	-	1	0	SLC25A21	36352929	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.534000	0.60622	2.813000	0.96785	0.561000	0.74099	CCA	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.313	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	G	NM_030631		37283178	-1	no_errors	ENST00000331299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37283178	G	A	37283178	3	1	10	1	0	0	0	0	1	0	0	0	14514	1174	41	1	788	1	SLC25A21	14	37283178	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1410237	37283178	70066362	155	1165										
CLMN	79789	genome.wustl.edu	37	chr14	95688036	95688036	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcaaacacttacattgctatCttccaaaaacttaagtgctt	3	10	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:95688036C>G	ENST00000298912.4	-	4	429	c.316G>C	c.(316-318)Gat>Cat	p.D106H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	106	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACATTGCTATCTTCCAAAAAC	0.408																																																	0													119	108	112					14																	95688036		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.316G>C	14.37:g.95688036C>G	ENSP00000298912:p.Asp106His		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D106H	ENST00000298912.4	37	c.316	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724110	0.89298	.	.	ENSG00000165959	ENST00000298912;ENST00000555336;ENST00000555615	D;D;D	0.95238	-3.65;-3.65;-3.65	5.19	5.19	0.71726	Calponin homology domain (5);	0.000000	0.42964	D	0.000630	D	0.95623	0.8577	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96364	0.9268	10	0.87932	D	0	.	19.1127	0.93323	0.0:1.0:0.0:0.0	.	106	Q96JQ2	CLMN_HUMAN	H	106;38;38	ENSP00000298912:D106H;ENSP00000451705:D38H;ENSP00000452525:D38H	ENSP00000298912:D106H	D	-	1	0	CLMN	94757789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.051000	0.76627	2.583000	0.87209	0.561000	0.74099	GAT	CLMN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	C			95688036	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95688036	C	G	95688036	3	3	10	1	0	0	0	0	1	0	0	0	3547	913	32	1	2732	1	CLMN	14	95688036	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	58404858	95688036	11661504	156	1166										
C15orf41	84529	genome.wustl.edu	37	chr15	37002110	37002110	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gcaaagcctcatttggtgatGaatgtagccaccacgcctac	9	12	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:37002110G>A	ENST00000566621.1	+	10	914	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	C15orf41_ENST00000567389.1_Missense_Mutation_p.E124K|C15orf41_ENST00000437989.2_Missense_Mutation_p.E222K|C15orf41_ENST00000562489.1_Missense_Mutation_p.E46K|C15orf41_ENST00000569302.1_Missense_Mutation_p.E228K|C15orf41_ENST00000338183.4_Missense_Mutation_p.E124K|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Missense_Mutation_p.E124K	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	222										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATTTGGTGATGAATGTAGCCA	0.418																																																	0													137	130	132					15																	37002110		1892	4108	6000	SO:0001583	missense	84529			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.664G>A	15.37:g.37002110G>A	ENSP00000455397:p.Glu222Lys		B2RD87	Missense_Mutation	SNP	NULL	p.E222K	ENST00000566621.1	37	c.664	CCDS45215.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452631	0.84209	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.45668	0.89	6.0	6.0	0.97389	.	0.045400	0.85682	D	0.000000	T	0.50633	0.1627	M	0.62723	1.935	0.80722	D	1	P	0.46142	0.873	P	0.49047	0.599	T	0.36529	-0.9744	10	0.08381	T	0.77	-16.7997	20.4987	0.99207	0.0:0.0:1.0:0.0	.	222	Q9Y2V0	CO041_HUMAN	K	222;124	ENSP00000401362:E222K	ENSP00000342433:E124K	E	+	1	0	C15orf41	34789402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.894000	0.87336	2.855000	0.98099	0.650000	0.86243	GAA	C15orf41	-	NULL		0.418	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf41	HGNC	protein_coding	OTTHUMT00000419741.1	G	NM_032499		37002110	1	no_errors	ENST00000437989	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37002110	G	A	37002110	3	1	10	1	0	0	0	0	1	0	0	0	1799	1291	45	1	702	1	C15orf41	15	37002110	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		37002110	65529282	157	1167										
GPR176	11245	genome.wustl.edu	37	chr15	40093815	40093815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gctgggttccaggctggcctCagccatgccactccctgtac	11	16	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:40093815C>T	ENST00000561100.1	-	3	1931	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.E311K|GPR176_ENST00000299092.3_Missense_Mutation_p.E355K	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	356					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGCTGGCCTCAGCCATGCCA	0.557																																																	0													102	92	95					15																	40093815		2203	4300	6503	SO:0001583	missense	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1066G>A	15.37:g.40093815C>T	ENSP00000453076:p.Glu356Lys		Q6NXF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E356K	ENST00000561100.1	37	c.1066	CCDS10051.1	15	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083991	0.55861	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.79352	-1.26	6.17	6.17	0.99709	.	0.211787	0.49305	D	0.000154	T	0.70439	0.3224	L	0.29908	0.895	0.58432	D	0.999999	B	0.15719	0.014	B	0.15484	0.013	T	0.61922	-0.6963	10	0.21540	T	0.41	-1.4119	20.8794	0.99867	0.0:1.0:0.0:0.0	.	356	Q14439	GP176_HUMAN	K	356;311	ENSP00000439361:E311K	ENSP00000299092:E356K	E	-	1	0	GPR176	37881107	0.994000	0.37717	0.460000	0.27093	0.384000	0.30261	3.473000	0.53122	2.941000	0.99782	0.655000	0.94253	GAG	GPR176	-	NULL		0.557	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	C	NM_007223		40093815	-1	no_errors	ENST00000561100	ensembl	human	known	70_37	missense	SNP	0.983	T	T	40093815	C	T	40093815	3	4	10	1	0	0	0	0	1	0	0	0	6692	835	29	1	485	1	GPR176	15	40093815	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	3091705	40093815	62437577	158	1168										
UACA	55075	genome.wustl.edu	37	chr15	70959889	70959889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	caatgagaactgtcttatctCtcaaatctttctgaagggta	7	8	5	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:70959889C>G	ENST00000322954.6	-	16	3319	c.3134G>C	c.(3133-3135)aGa>aCa	p.R1045T	UACA_ENST00000379983.2_Missense_Mutation_p.R1032T|UACA_ENST00000560441.1_Missense_Mutation_p.R1030T|UACA_ENST00000539319.1_Missense_Mutation_p.R936T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1045					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTCTTATCTCTCAAATCTTT	0.348																																																	0													105	97	100					15																	70959889		2198	4298	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3134G>C	15.37:g.70959889C>G	ENSP00000314556:p.Arg1045Thr		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.R1045T	ENST00000322954.6	37	c.3134	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088816	0.20390	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.33865	1.39;1.4;1.88	5.82	-0.27	0.12926	.	0.867685	0.10175	N	0.706654	T	0.19765	0.0475	N	0.08118	0	0.09310	N	1	B;B;B;B	0.28636	0.218;0.06;0.102;0.163	B;B;B;B	0.29440	0.102;0.047;0.047;0.066	T	0.22626	-1.0211	10	0.46703	T	0.11	-3.5219	10.7832	0.46390	0.0:0.4135:0.0:0.5865	.	936;1045;1045;1032	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	T	1045;1032;936	ENSP00000314556:R1045T;ENSP00000369319:R1032T;ENSP00000438667:R936T	ENSP00000314556:R1045T	R	-	2	0	UACA	68746943	0.019000	0.18553	0.002000	0.10522	0.782000	0.44232	2.094000	0.41719	-0.291000	0.09012	-0.367000	0.07326	AGA	UACA	-	NULL		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70959889	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	0.000	G	G	70959889	C	G	70959889	3	3	10	1	0	0	0	0	1	0	0	0	16855	913	32	1	1132	1	UACA	15	70959889	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	30866074	70959889	31571503	159	1169										
IQGAP1	8826	genome.wustl.edu	37	chr15	90992855	90992855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agtggatgctgcaaacagtgCtgcccagcaatatcagagaa	11	9	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:90992855C>T	ENST00000268182.5	+	11	1266	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	381					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAGTGCTGCCCAGCAA	0.458																																																	0													84	82	83					15																	90992855		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1142C>T	15.37:g.90992855C>T	ENSP00000268182:p.Ala381Val		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.A381V	ENST00000268182.5	37	c.1142	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783087	0.31593	.	.	ENSG00000140575	ENST00000268182	T	0.05717	3.4	4.94	3.99	0.46301	.	0.355002	0.29861	N	0.011016	T	0.07234	0.0183	L	0.40543	1.245	0.42859	D	0.994105	B	0.06786	0.001	B	0.06405	0.002	T	0.18178	-1.0345	10	0.37606	T	0.19	-2.9433	14.2273	0.65868	0.0:0.8497:0.1503:0.0	.	381	P46940	IQGA1_HUMAN	V	381	ENSP00000268182:A381V	ENSP00000268182:A381V	A	+	2	0	IQGAP1	88793859	0.666000	0.27475	0.117000	0.21633	0.898000	0.52572	2.610000	0.46325	1.248000	0.43934	0.557000	0.71058	GCT	IQGAP1	-	NULL		0.458	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	C	NM_003870		90992855	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	0.369	T	T	90992855	C	T	90992855	3	4	10	1	0	0	0	0	1	0	0	0	7834	797	28	4	1184	4	IQGAP1	15	90992855	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	20032966	90992855	11538537	160	1170										
TM2D3	80213	genome.wustl.edu	37	chr15	102187096	102187096	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gttcttttgggatttgaagtCttgatcctatgtagcaaatg	10	5	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:102187096C>G	ENST00000333202.3	-	4	339	c.334G>C	c.(334-336)Gac>Cac	p.D112H	TM2D3_ENST00000347970.3_Missense_Mutation_p.D86H|TM2D3_ENST00000559107.1_Missense_Mutation_p.D112H|TM2D3_ENST00000428002.2_Missense_Mutation_p.D86H|RNU6-807P_ENST00000516805.1_RNA|TM2D3_ENST00000561373.1_Missense_Mutation_p.D47H	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	112						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATTTGAAGTCTTGATCCTAT	0.403																																																	0													123	105	111					15																	102187096		2203	4300	6503	SO:0001583	missense	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.334G>C	15.37:g.102187096C>G	ENSP00000330433:p.Asp112His		B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	pfam_TM2	p.D112H	ENST00000333202.3	37	c.334	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800133	0.70567	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	T;T;T	0.74632	-0.86;-0.86;-0.86	5.72	4.62	0.57501	.	0.358932	0.32459	N	0.006073	T	0.77343	0.4116	L	0.51422	1.61	0.37479	D	0.915914	D;D;B;P	0.65815	0.995;0.966;0.399;0.833	P;P;B;B	0.58873	0.847;0.735;0.424;0.372	T	0.79593	-0.1739	10	0.54805	T	0.06	-30.44	8.7326	0.34507	0.0:0.8252:0.0:0.1748	.	112;86;86;112	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	H	86;86;112	ENSP00000402179:D86H;ENSP00000327584:D86H;ENSP00000330433:D112H	ENSP00000330433:D112H	D	-	1	0	TM2D3	100004619	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.185000	0.42584	2.704000	0.92352	0.585000	0.79938	GAC	TM2D3	-	NULL		0.403	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1	C	NM_078474		102187096	-1	no_errors	ENST00000333202	ensembl	human	known	70_37	missense	SNP	0.951	G	G	102187096	C	G	102187096	3	3	10	1	0	0	0	0	1	0	0	0	15995	913	32	1	421	1	TM2D3	15	102187096	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	11194241	102187096	344296	161	1171										
VASN	114990	genome.wustl.edu	37	chr16	4432189	4432189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttgtgccccgaaggcttcacGggcctgtactgtgagagcca	13	12	1	1	rs369159357		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:4432189G>A	ENST00000304735.3	+	2	1466	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	437	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						AAGGCTTCACGGGCCTGTACT	0.697																																																	0								G	,,,,	1,4335		0,1,2167	19	17	17		,,,,1311	-11	0	16		17	0,8558		0,0,4279	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	0,1,6446	AA,AG,GG		0.0,0.0231,0.0078	,,,,	,,,,437/674	4432189	1,12893	2168	4279	6447	SO:0001819	synonymous_variant	114990			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1311G>A	16.37:g.4432189G>A			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.T437	ENST00000304735.3	37	c.1311	CCDS10514.1	16																																																																																			VASN	-	smart_EG-like_dom,pfscan_EG-like_dom		0.697	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	HGNC	protein_coding	OTTHUMT00000251632.1	G	NM_138440		4432189	1	no_errors	ENST00000304735	ensembl	human	known	70_37	silent	SNP	0.000	A	A	4432189	G	A	4432189	2	1	10	1	0	0	0	0	0	0	0	1	17158	1103	39	2		2	VASN	16	4432189	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		4432189	85922564	162	1172										
RRN3	54700	genome.wustl.edu	37	chr16	15155747	15155747	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttcagaaagtcatcatcttCatcttccactatgtcctgca	4	12	6	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:15155747C>A	ENST00000198767.6	-	18	1893	c.1810G>T	c.(1810-1812)Gaa>Taa	p.E604*	RRN3_ENST00000563559.1_Nonsense_Mutation_p.E604*|RRN3_ENST00000327307.7_Nonsense_Mutation_p.E571*|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Nonsense_Mutation_p.E574*|RRN3_ENST00000540462.1_Nonsense_Mutation_p.E422*	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	604	Interaction with EIF3L.|Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TCATCATCTTCATCTTCCACT	0.443																																																	0													160	125	137					16																	15155747		2197	4300	6497	SO:0001587	stop_gained	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1810G>T	16.37:g.15155747C>A	ENSP00000198767:p.Glu604*		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Nonsense_Mutation	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.E604*	ENST00000198767.6	37	c.1810	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.209467	0.95069	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	.	.	.	6.08	6.08	0.98989	.	0.129606	0.50627	U	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	.	.	.	X	604;574;571;422	.	ENSP00000198767:E604X	E	-	1	0	RRN3	15063248	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	6.187000	0.72039	2.894000	0.99253	0.655000	0.94253	GAA	RRN3	-	NULL		0.443	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	C	NM_018427		15155747	-1	no_errors	ENST00000198767	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	15155747	C	A	15155747	4	1	10	1	0	0	0	0	0	1	0	0	13714	835	29	3	149	3	RRN3	16	15155747	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	10723558	15155747	75199006	163	1173										
VWA3A	146177	genome.wustl.edu	37	chr16	22132909	22132909	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aggaatttgtacctattctcCagaaaacagtatcatcgacc	6	10	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:22132909C>T	ENST00000389398.5	+	14	1423	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	443						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACCTATTCTCCAGAAAACAGT	0.433																																																	0													173	172	172					16																	22132909		1869	4100	5969	SO:0001587	stop_gained	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1327C>T	16.37:g.22132909C>T	ENSP00000374049:p.Gln443*		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q443*	ENST00000389398.5	37	c.1327	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.100020	0.98063	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	.	.	.	5.77	3.75	0.43078	.	0.549901	0.19705	N	0.107958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	11.7458	0.51819	0.1392:0.727:0.1338:0.0	.	.	.	.	X	443;66	.	ENSP00000299840:Q66X	Q	+	1	0	VWA3A	22040410	0.977000	0.34250	0.999000	0.59377	0.965000	0.64279	1.412000	0.34714	0.738000	0.32606	0.644000	0.83932	CAG	VWA3A	-	NULL		0.433	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	C			22132909	1	no_errors	ENST00000389398	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	22132909	C	T	22132909	4	4	10	1	0	0	0	0	0	1	0	0	17271	595	21	4	1381	4	VWA3A	16	22132909	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	6977162	22132909	68221844	164	1174										
SH2B1	25970	genome.wustl.edu	37	chr16	28884849	28884849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	acagcctggggcagaagaggCgtcgagggcgccagaagtgg	19	9	0	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:28884849C>A	ENST00000322610.8	+	11	2418	c.1979C>A	c.(1978-1980)gCg>gAg	p.A660E	SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	660					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GCAGAAGAGGCGTCGAGGGCG	0.637																																																	0													42	65	58					16																	28884849		692	1591	2283	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1979C>A	16.37:g.28884849C>A	ENSP00000321221:p.Ala660Glu		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.A660E	ENST00000322610.8	37	c.1979	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483419	0.63962	.	.	ENSG00000178188	ENST00000322610	T	0.47869	0.83	5.02	1.8	0.24995	.	0.701264	0.12593	N	0.455411	T	0.21590	0.0520	N	0.14661	0.345	0.80722	D	1	B	0.15473	0.013	B	0.12156	0.007	T	0.19910	-1.0291	10	0.09338	T	0.73	0.0054	1.4183	0.02306	0.174:0.4656:0.1681:0.1922	.	660	Q9NRF2	SH2B1_HUMAN	E	660	ENSP00000321221:A660E	ENSP00000321221:A660E	A	+	2	0	SH2B1	28792350	0.948000	0.32251	1.000000	0.80357	0.997000	0.91878	0.083000	0.14871	1.238000	0.43771	0.591000	0.81541	GCG	SH2B1	-	NULL		0.637	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	C	NM_015503		28884849	1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	0.994	A	A	28884849	C	A	28884849	3	1	10	1	0	0	0	0	1	0	0	0	14257	768	27	2	2166	2	SH2B1	16	28884849	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	6751940	28884849	61469904	165	1175										
ABCC12	94160	genome.wustl.edu	37	chr16	48125046	48125046	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cttaccgaaatgtattccctGagcagctccacggaggtgaa	10	11	0	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:48125046G>C	ENST00000311303.3	-	23	3615	c.3270C>G	c.(3268-3270)ctC>ctG	p.L1090L	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1090						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTATTCCCTGAGCAGCTCCA	0.498																																																	0													159	154	156					16																	48125046		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3270C>G	16.37:g.48125046G>C			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1090	ENST00000311303.3	37	c.3270	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC_transptrTM_dom_typ1		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	G	NM_033226		48125046	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	0.005	C	C	48125046	G	C	48125046	2	2	10	1	0	0	0	0	0	0	0	1	52	1277	45	1		1	ABCC12	16	48125046	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	19240197	48125046	42229707	166	1176										
ABCC12	94160	genome.wustl.edu	37	chr16	48130714	48130714	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gtactgatggaggagaaactCagggtcaccaacaaggccac	12	10	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:48130714C>T	ENST00000311303.3	-	22	3483	c.3138G>A	c.(3136-3138)ctG>ctA	p.L1046L	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1046	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGAGAAACTCAGGGTCACCA	0.502																																																	0													210	182	192					16																	48130714		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3138G>A	16.37:g.48130714C>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1046	ENST00000311303.3	37	c.3138	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	C	NM_033226		48130714	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	0.998	T	T	48130714	C	T	48130714	2	4	10	1	0	0	0	0	0	0	0	1	52	813	29	1		1	ABCC12	16	48130714	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	5668	48130714	42224039	167	1177										
CDH11	1009	genome.wustl.edu	37	chr16	64984722	64984722	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atcagggcgcctgtgctcagGccggcgttcagaatgtaggc	15	11	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:64984722G>T	ENST00000268603.4	-	12	2457	c.1842C>A	c.(1840-1842)ggC>ggA	p.G614G	CDH11_ENST00000394156.3_Silent_p.G614G|CDH11_ENST00000566827.1_Silent_p.G488G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	614					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTCAGGCCGGCGTTCA	0.627			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													84	64	71					16																	64984722		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1842C>A	16.37:g.64984722G>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G614	ENST00000268603.4	37	c.1842	CCDS10803.1	16																																																																																			CDH11	-	NULL		0.627	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		64984722	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	0.705	T	T	64984722	G	T	64984722	2	4	10	1	0	0	0	0	0	0	0	1	3102	1190	42	4		4	CDH11	16	64984722	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	16854008	64984722	25370031	168	1178										
WWP2	11060	genome.wustl.edu	37	chr16	69874115	69874115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agctgacaattttcctggacGggccaactgttgatctggga	12	9	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:69874115G>A	ENST00000359154.2	+	5	528	c.427G>A	c.(427-429)Ggg>Agg	p.G143R	WWP2_ENST00000448661.1_Missense_Mutation_p.G143R|WWP2_ENST00000356003.2_Missense_Mutation_p.G143R|WWP2_ENST00000569174.1_Missense_Mutation_p.G143R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.G27R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G143R(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCCTGGACGGGCCAACTGT	0.582																																																	1	Substitution - Missense(1)	breast(1)											112	93	99					16																	69874115		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.427G>A	16.37:g.69874115G>A	ENSP00000352069:p.Gly143Arg		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.G143R	ENST00000359154.2	37	c.427	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702234	0.88924	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.48836	0.8;0.8;0.8;1.09	5.37	5.37	0.77165	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.77313	2.365	0.80722	D	1	D	0.61080	0.989	B	0.42995	0.404	T	0.56673	-0.7940	9	.	.	.	.	11.7041	0.51587	0.0843:0.0:0.9157:0.0	.	143	O00308	WWP2_HUMAN	R	143;143;143;30;27	ENSP00000352069:G143R;ENSP00000396871:G143R;ENSP00000348283:G143R;ENSP00000445616:G27R	.	G	+	1	0	WWP2	68431616	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.825000	0.75293	2.512000	0.84698	0.655000	0.94253	GGG	WWP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.582	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	G	NM_007014		69874115	1	no_errors	ENST00000356003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69874115	G	A	69874115	3	1	10	1	0	0	0	0	1	0	0	0	17447	1116	39	2	441	2	WWP2	16	69874115	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	4889393	69874115	20480638	169	1179										
FANCA	2175	genome.wustl.edu	37	chr16	89805325	89805325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gaagctctttttcgggcaccGaggtattaactgcagcagaa	11	9	1	1	rs139478274		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:89805325G>A	ENST00000389301.3	-	42	4255	c.4225C>T	c.(4225-4227)Cgg>Tgg	p.R1409W	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.S1410L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1409					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCGGGCACCGAGGTATTAAC	0.507			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	1	0.000199681	0	0	5008	,	,		22217	0.001		0	False		,,,				2504	0						yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0								G	TRP/ARG,,	0,4396		0,0,2198	91	93	92		4225,,	4.4	0.4	16	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	yes	missense,utr-3,utr-3	FANCA,ZNF276	NM_000135.2,NM_001113525.1,NM_152287.3	101,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,	1409/1456,,	89805325	1,12995	2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.4225C>T	16.37:g.89805325G>A	ENSP00000373952:p.Arg1409Trp		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.R1409W	ENST00000389301.3	37	c.4225	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524821	0.64747	0.0	1.16E-4	ENSG00000187741	ENST00000389301	D	0.85258	-1.96	5.39	4.42	0.53409	.	0.613193	0.15370	N	0.265899	D	0.85660	0.5748	L	0.53249	1.67	0.32280	N	0.56773	D	0.76494	0.999	P	0.50490	0.642	D	0.87148	0.2207	10	0.72032	D	0.01	-11.2417	11.2682	0.49122	0.0:0.0:0.805:0.195	.	1409	O15360	FANCA_HUMAN	W	1409	ENSP00000373952:R1409W	ENSP00000373952:R1409W	R	-	1	2	FANCA	88332826	0.025000	0.19082	0.436000	0.26797	0.879000	0.50718	2.155000	0.42301	1.237000	0.43756	0.650000	0.86243	CGG	FANCA	-	NULL		0.507	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	G			89805325	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	missense	SNP	0.243	A	A	89805325	G	A	89805325	3	1	10	1	0	0	0	0	1	0	0	0	5680	1057	37	1	150	1	FANCA	16	89805325	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	19931210	89805325	549428	170	1180										
RILP	8578	genome.wustl.edu	37	chr17	1551691	1551691	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agcaggaacactttggctttGagttcattccgctcctgaag	10	10	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:1551691G>C	ENST00000263071.4	-	0	0				RILP_ENST00000301336.6_Silent_p.L258L|SCARF1_ENST00000348987.3_5'Flank|SCARF1_ENST00000571272.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTTGGCTTTGAGTTCATTCC	0.642																																																	0													59	54	55					17																	1551691		2203	4300	6503	SO:0001631	upstream_gene_variant	83547			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551691G>C	Exception_encountered		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	pfam_RILP,pfam_JNK/Rab-associated_protein-1_N	p.L258	ENST00000263071.4	37	c.774	CCDS11007.1	17																																																																																			RILP	-	pfam_RILP		0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RILP	HGNC	protein_coding	OTTHUMT00000207081.4	G	NM_003693		1551691	-1	no_errors	ENST00000301336	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1551691	G	C	1551691	1	2	10	0	1	0	0	0	0	0	0	0	13390	1277	45	1		1	RILP	17	1551691	5'Flank	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		1551691	79643519	171	1181										
DNAH2	146754	genome.wustl.edu	37	chr17	7695328	7695328	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgtgtgcctctgtggatgagGagggccggaagaggatcgac	18	7	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:7695328G>T	ENST00000572933.1	+	45	8454	c.6994G>T	c.(6994-6996)Gag>Tag	p.E2332*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.E2332*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2332					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGATGAGGAGGGCCGGAA	0.542																																																	0													176	153	161					17																	7695328		2203	4300	6503	SO:0001587	stop_gained	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6994G>T	17.37:g.7695328G>T	ENSP00000458355:p.Glu2332*		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E2332*	ENST00000572933.1	37	c.6994	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	48	14.154140	0.99782	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.98	4.98	0.66077	.	0.361909	0.27130	N	0.020787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.1946	0.86890	0.0:0.0:1.0:0.0	.	.	.	.	X	2332	.	ENSP00000353818:E2332X	E	+	1	0	DNAH2	7636053	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	5.564000	0.67359	2.581000	0.87130	0.643000	0.83706	GAG	DNAH2	-	NULL		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7695328	1	no_errors	ENST00000389173	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7695328	G	T	7695328	4	4	10	1	0	0	0	0	0	1	0	0	4612	1175	41	3	7168	3	DNAH2	17	7695328	Nonsense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	6143637	7695328	73499882	172	1182										
NEK8	284086	genome.wustl.edu	37	chr17	27061104	27061104	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	agcggcaggcagcccagaatGagtgccaggtcctcaagctg	14	12	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:27061104G>A	ENST00000268766.6	+	2	185	c.151G>A	c.(151-153)Gag>Aag	p.E51K	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGCCCAGAATGAGTGCCAGGT	0.527																																					NSCLC(6;19 293 14866 25253 49845)												0													114	101	105					17																	27061104		2203	4300	6503	SO:0001583	missense	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.151G>A	17.37:g.27061104G>A	ENSP00000268766:p.Glu51Lys		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E51K	ENST00000268766.6	37	c.151	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.577772	0.96565	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.64803	-0.12;-0.12	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93875	0.7166	10	0.87932	D	0	.	17.124	0.86710	0.0:0.0:1.0:0.0	.	51	Q86SG6	NEK8_HUMAN	K	51	ENSP00000465859:E51K;ENSP00000268766:E51K	ENSP00000268766:E51K	E	+	1	0	NEK8	24085231	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.530000	0.98051	2.267000	0.75376	0.313000	0.20887	GAG	NEK8	-	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		0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	G			27061104	1	no_errors	ENST00000268766	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27061104	G	A	27061104	3	1	10	1	0	0	0	0	1	0	0	0	10354	1291	45	1	157	1	NEK8	17	27061104	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	19365776	27061104	54134106	173	1183										
KRT17	3872	genome.wustl.edu	37	chr17	39777876	39777876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	accaatcctcggcatccttgCggttcttctctgccatcttc	6	16	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:39777876C>T	ENST00000311208.8	-	4	870	c.803G>A	c.(802-804)cGc>cAc	p.R268H	JUP_ENST00000540235.1_Missense_Mutation_p.R427H	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	268	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGCATCCTTGCGGTTCTTCTC	0.592																																					Pancreas(92;1242 2086 39193 50508)												0													111	99	103					17																	39777876		2203	4298	6501	SO:0001583	missense	3728			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.803G>A	17.37:g.39777876C>T	ENSP00000308452:p.Arg268His		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.R427H	ENST00000311208.8	37	c.1280	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786003	0.70337	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.90004	-2.6;-2.6	3.82	2.85	0.33270	Prefoldin (1);Filament (1);	0.000000	0.47852	D	0.000202	D	0.91164	0.7217	M	0.89968	3.075	0.27673	N	0.946698	P	0.35821	0.523	B	0.40940	0.344	D	0.86801	0.1992	10	0.72032	D	0.01	.	11.6609	0.51345	0.0:0.9126:0.0:0.0874	.	268	Q04695	K1C17_HUMAN	H	268;427	ENSP00000308452:R268H;ENSP00000441751:R427H	ENSP00000441751:R427H	R	-	2	0	JUP;KRT17	37031402	0.749000	0.28305	1.000000	0.80357	0.997000	0.91878	1.421000	0.34815	0.960000	0.38005	0.655000	0.94253	CGC	JUP	-	pfam_F,superfamily_Prefoldin		0.592	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	C	NM_000422		39777876	-1	no_errors	ENST00000540235	ensembl	human	known	70_37	missense	SNP	0.998	T	T	39777876	C	T	39777876	3	4	10	1	0	0	0	0	1	0	0	0	8474	768	27	2	515	2	KRT17	17	39777876	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	12716772	39777876	41417334	174	1184										
COASY	80347	genome.wustl.edu	37	chr17	40714701	40714701	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cgctggcctccctagcccctCgcctggcctccatcctgacc	8	22	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:40714701C>G	ENST00000393818.2	+	1	517	c.61C>G	c.(61-63)Cgc>Ggc	p.R21G	COASY_ENST00000449624.1_Intron|COASY_ENST00000590958.1_Missense_Mutation_p.R50G|COASY_ENST00000420359.1_Missense_Mutation_p.R21G|COASY_ENST00000421097.2_Missense_Mutation_p.R21G|RP11-400F19.8_ENST00000585572.1_RNA	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	21					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCTAGCCCCTCGCCTGGCCTC	0.692																																																	0													32	36	35					17																	40714701		2203	4294	6497	SO:0001583	missense	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.61C>G	17.37:g.40714701C>G	ENSP00000377406:p.Arg21Gly		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.R50G	ENST00000393818.2	37	c.148	CCDS11429.1	17	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835113	0.71373	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33654	1.4;1.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.703	D;B	0.70487	0.969;0.302	T	0.44802	-0.9304	10	0.87932	D	0	-20.1808	12.3205	0.54981	0.169:0.831:0.0:0.0	.	50;21	Q13057-2;Q13057	.;COASY_HUMAN	G	50;21;21;21	ENSP00000413338:R21G;ENSP00000377406:R21G	ENSP00000377406:R21G	R	+	1	0	COASY	37968227	0.999000	0.42202	0.998000	0.56505	0.846000	0.48090	4.179000	0.58290	2.701000	0.92244	0.462000	0.41574	CGC	COASY	-	NULL		0.692	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40714701	1	no_errors	ENST00000590958	ensembl	human	known	70_37	missense	SNP	0.999	G	G	40714701	C	G	40714701	3	3	10	1	0	0	0	0	1	0	0	0	3657	884	31	1	154	1	COASY	17	40714701	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	936825	40714701	40480509	175	1185										
BZRAP1	9256	genome.wustl.edu	37	chr17	56382430	56382430	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctcctcactgacctgactctCagcctggggtgtcctgggtt	11	14	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:56382430C>T	ENST00000343736.4	-	30	5699	c.5536G>A	c.(5536-5538)Gag>Aag	p.E1846K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1786K|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1846K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1846						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCTGACTCTCAGCCTGGGGT	0.647																																																	0													41	46	44					17																	56382430		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5536G>A	17.37:g.56382430C>T	ENSP00000345824:p.Glu1846Lys		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1846K	ENST00000343736.4	37	c.5536	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219963	0.58560	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04654	3.66;3.58;3.59	5.42	4.45	0.53987	.	0.645746	0.16081	N	0.230483	T	0.11836	0.0288	L	0.34521	1.04	0.20074	N	0.999936	B;D;D;D	0.76494	0.281;0.999;0.997;0.999	B;D;D;D	0.80764	0.083;0.994;0.98;0.985	T	0.09930	-1.0652	10	0.49607	T	0.09	.	10.6242	0.45497	0.0:0.9108:0.0:0.0892	.	1837;1786;1846;1786	B7ZVZ7;O95153-2;O95153;A7E2C5	.;.;RIMB1_HUMAN;.	K	1846;1846;1786	ENSP00000347929:E1846K;ENSP00000345824:E1846K;ENSP00000268893:E1786K	ENSP00000268893:E1786K	E	-	1	0	BZRAP1	53737429	0.988000	0.35896	0.628000	0.29241	0.579000	0.36224	2.914000	0.48797	2.575000	0.86900	0.449000	0.29647	GAG	BZRAP1	-	NULL		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	C	NM_004758		56382430	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	0.533	T	T	56382430	C	T	56382430	3	4	10	1	0	0	0	0	1	0	0	0	1580	835	29	1	45	1	BZRAP1	17	56382430	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	15667729	56382430	24812780	176	1186										
ACE	1636	genome.wustl.edu	37	chr17	61559097	61559097	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttctacaacaggaaagacttCaggttcagacatgggaagag	11	7	3	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:61559097C>T	ENST00000290866.4	+	7	1140	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.F372F|ACE_ENST00000428043.1_Silent_p.F372F	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	372	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGAAAGACTTCAGGTTCAGAC	0.647																																																	0													47	54	52					17																	61559097		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1116C>T	17.37:g.61559097C>T			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.F372	ENST00000290866.4	37	c.1116	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2		0.647	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	C			61559097	1	no_errors	ENST00000290866	ensembl	human	known	70_37	silent	SNP	1.000	T	T	61559097	C	T	61559097	2	4	10	1	0	0	0	0	0	0	0	1	136	825	29	1		1	ACE	17	61559097	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	5176667	61559097	19636113	177	1187										
TMEM200C	645369	genome.wustl.edu	37	chr18	5891558	5891558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gatgcccatgatgaggggccCgaagaccttgagcttgtcag	14	10	1	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:5891558C>T	ENST00000581347.2	-	3	1150	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.G169R			A6NKL6	T200C_HUMAN	transmembrane protein 200C	169						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						ATGAGGGGCCCGAAGACCTTG	0.592																																																	0													52	62	59					18																	5891558		2137	4248	6385	SO:0001583	missense	645369				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.505G>A	18.37:g.5891558C>T	ENSP00000463375:p.Gly169Arg			Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.G169R	ENST00000581347.2	37	c.505	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613182	0.87359	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83604	0.0130	9	0.87932	D	0	-18.4894	16.9016	0.86115	0.0:1.0:0.0:0.0	.	169	A6NKL6	T200C_HUMAN	R	169	.	ENSP00000372982:G169R	G	-	1	0	TMEM200C	5881558	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.685000	0.84117	2.028000	0.59812	0.305000	0.20034	GGG	TMEM200C	-	pfam_DUF2371_TMEM200		0.592	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	C	NM_001080209		5891558	-1	no_errors	ENST00000383490	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5891558	C	T	5891558	3	4	10	1	0	0	0	0	1	0	0	0	16155	652	23	2	1364	2	TMEM200C	18	5891558	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		5891558	72185690	178	1188										
CELF4	56853	genome.wustl.edu	37	chr18	34855193	34855193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttgttgagcatgcccacgaaGagttttctatcttctagaac	8	9	3	3			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:34855193G>A	ENST00000591282.1	-	4	461	c.462C>T	c.(460-462)ctC>ctT	p.L154L	CELF4_ENST00000361795.5_Silent_p.L153L|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Silent_p.L144L|CELF4_ENST00000601019.1_Silent_p.L153L|CELF4_ENST00000588597.1_Silent_p.L143L|CELF4_ENST00000603232.1_Silent_p.L154L|CELF4_ENST00000412753.1_Silent_p.L154L|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000420428.2_Silent_p.L154L|CELF4_ENST00000591287.1_Silent_p.L153L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCCCACGAAGAGTTTTCTAT	0.622																																																	0													53	56	55					18																	34855193		2203	4300	6503	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.462C>T	18.37:g.34855193G>A			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L154	ENST00000591282.1	37	c.462	CCDS32818.1	18																																																																																			CELF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	G	NM_020180		34855193	-1	no_errors	ENST00000591282	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34855193	G	A	34855193	2	1	10	1	0	0	0	0	0	0	0	1	3223	929	33	1		1	CELF4	18	34855193	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	28963635	34855193	43222055	179	1189										
SOCS6	9306	genome.wustl.edu	37	chr18	67992741	67992741	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctagttgtcgccccagagatCttcgtggatcagtccgtgaa	11	11	2	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:67992741C>T	ENST00000397942.3	+	2	1153	c.837C>T	c.(835-837)atC>atT	p.I279I	SOCS6_ENST00000582322.1_Silent_p.I279I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	279					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCCCAGAGATCTTCGTGGATC	0.582																																					Melanoma(84;1024 1361 24382 36583 42651)												0													167	148	154					18																	67992741		2203	4300	6503	SO:0001819	synonymous_variant	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.837C>T	18.37:g.67992741C>T			Q8WUM3	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.I279	ENST00000397942.3	37	c.837	CCDS11998.1	18																																																																																			SOCS6	-	NULL		0.582	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	C			67992741	1	no_errors	ENST00000397942	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67992741	C	T	67992741	2	4	10	1	0	0	0	0	0	0	0	1	14948	903	32	1		1	SOCS6	18	67992741	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	33137548	67992741	10084507	180	1190										
ZNF236	7776	genome.wustl.edu	37	chr18	74620481	74620481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atgtggtgggcacggaggaaGcagggctgggccagcagttg	20	7	0	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:74620481G>A	ENST00000253159.8	+	14	2695	c.2497G>A	c.(2497-2499)Gca>Aca	p.A833T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A835T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	833					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACGGAGGAAGCAGGGCTGGG	0.587																																																	0													56	66	63					18																	74620481		2083	4218	6301	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2497G>A	18.37:g.74620481G>A	ENSP00000253159:p.Ala833Thr		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A833T	ENST00000253159.8	37	c.2497	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	8.086	0.773472	0.16051	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10668	2.85;3.03	4.94	-2.12	0.07165	.	0.497073	0.21219	N	0.078179	T	0.03959	0.0111	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	10	0.11794	T	0.64	.	2.3752	0.04340	0.4426:0.2073:0.2451:0.105	.	833	Q9UL36	ZN236_HUMAN	T	833	ENSP00000253159:A833T;ENSP00000444524:A833T	ENSP00000253159:A833T	A	+	1	0	ZNF236	72749469	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-0.452000	0.06787	-0.382000	0.07870	0.467000	0.42956	GCA	ZNF236	-	NULL		0.587	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74620481	1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	0.003	A	A	74620481	G	A	74620481	3	1	10	1	0	0	0	0	1	0	0	0	17819	971	34	4	2551	4	ZNF236	18	74620481	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	6627740	74620481	3456767	181	1191										
MUC16	94025	genome.wustl.edu	37	chr19	9059312	9059312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tccaaggtaaaggtaccctgCgaggtagccccagaaggacc	12	12	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:9059312C>T	ENST00000397910.4	-	3	28337	c.28134G>A	c.(28132-28134)tcG>tcA	p.S9378S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9380	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTACCCTGCGAGGTAGCCC	0.512																																																	0													138	137	137					19																	9059312		1971	4146	6117	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28134G>A	19.37:g.9059312C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S9378	ENST00000397910.4	37	c.28134	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9059312	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	T	T	9059312	C	T	9059312	2	4	10	1	0	0	0	0	0	0	0	1	9996	755	27	2		2	MUC16	19	9059312	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		9059312	50069671	182	1192										
MUC16	94025	genome.wustl.edu	37	chr19	9073717	9073717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tattgatatagaagcaagagCgtcccccatgctggaggcag	12	9	0	3	rs372775227		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:9073717C>T	ENST00000397910.4	-	3	13932	c.13729G>A	c.(13729-13731)Gct>Act	p.A4577T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4579	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGCAAGAGCGTCCCCCATG	0.527																																																	0								C	THR/ALA	1,4167		0,1,2083	98	95	96		13729	-3.5	0	19		96	0,8408		0,0,4204	no	missense	MUC16	NM_024690.2	58	0,1,6287	TT,TC,CC		0.0,0.024,0.0080	benign	4577/14508	9073717	1,12575	2084	4204	6288	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13729G>A	19.37:g.9073717C>T	ENSP00000381008:p.Ala4577Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A4577T	ENST00000397910.4	37	c.13729	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	0.481	-0.880030	0.02530	2.4E-4	0.0	ENSG00000181143	ENST00000397910	T	0.15372	2.43	1.75	-3.49	0.04724	.	.	.	.	.	T	0.05823	0.0152	N	0.03608	-0.345	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29701	-1.0003	8	0.87932	D	0	.	1.4677	0.02409	0.1407:0.3061:0.141:0.4122	.	4577	B5ME49	.	T	4577	ENSP00000381008:A4577T	ENSP00000381008:A4577T	A	-	1	0	MUC16	8934717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.974000	0.03794	-3.278000	0.00198	-1.800000	0.00619	GCT	MUC16	-	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9073717	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9073717	C	T	9073717	3	4	10	1	0	0	0	0	1	0	0	0	9996	768	27	2	30122	2	MUC16	19	9073717	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	14405	9073717	50055266	183	1193										
ZNF559	84527	genome.wustl.edu	37	chr19	9453513	9453513	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aaaagaatacatacaggggaGaggccatataaatgtcaaaa	9	5	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:9453513G>C	ENST00000393883.2	+	6	2034	c.1386G>C	c.(1384-1386)gaG>gaC	p.E462D	ZNF559_ENST00000538743.1_Missense_Mutation_p.E382D|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.E526D|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.E462D|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATACAGGGGAGAGGCCATATA	0.448																																																	0													70	63	66					19																	9453513		2203	4300	6503	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1386G>C	19.37:g.9453513G>C	ENSP00000377461:p.Glu462Asp		K7EMG6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E462D	ENST00000393883.2	37	c.1386	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725490	0.48833	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.26810	1.71;1.71	2.22	1.17	0.20885	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35422	0.0931	L	0.49256	1.55	0.24034	N	0.996103	B;P;P	0.43431	0.352;0.807;0.609	B;P;B	0.55999	0.278;0.789;0.207	T	0.14587	-1.0467	9	0.62326	D	0.03	.	6.813	0.23814	0.1545:0.0:0.8455:0.0	.	462;462;382	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	D	462;382;462	ENSP00000442832:E382D;ENSP00000377461:E462D	ENSP00000325393:E462D	E	+	3	2	ZNF559	9314513	0.509000	0.26163	0.024000	0.17045	0.263000	0.26337	0.251000	0.18257	0.494000	0.27859	0.313000	0.20887	GAG	ZNF559	-	pfscan_Znf_C2H2		0.448	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	G	NM_032497		9453513	1	no_errors	ENST00000393883	ensembl	human	known	70_37	missense	SNP	0.998	C	C	9453513	G	C	9453513	3	2	10	1	0	0	0	0	1	0	0	0	18020	933	33	1	1400	1	ZNF559	19	9453513	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	379796	9453513	49675470	184	1194										
CD97	976	genome.wustl.edu	37	chr19	14516740	14516740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcctggccggcatcgagaacGaaggcggccaggtgaggtcc	16	12	0	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:14516740G>A	ENST00000242786.5	+	14	1890	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E511K|CD97_ENST00000357355.3_Missense_Mutation_p.E555K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	604					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCGAGAACGAAGGCGGCCA	0.697																																																	0													45	37	40					19																	14516740		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1810G>A	19.37:g.14516740G>A	ENSP00000242786:p.Glu604Lys		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.E604K	ENST00000242786.5	37	c.1810	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	G	6.453	0.451647	0.12223	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.43688	0.94;0.94;0.94	4.73	-8.31	0.01001	GPCR, family 2-like (1);	1.814060	0.03570	N	0.228518	T	0.27027	0.0662	N	0.25144	0.715	0.09310	N	1	B;B;B	0.30937	0.103;0.17;0.301	B;B;B	0.24006	0.025;0.025;0.05	T	0.32295	-0.9912	10	0.49607	T	0.09	.	14.0764	0.64893	0.149:0.7033:0.1476:0.0	.	511;555;604	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	K	604;555;511;554	ENSP00000242786:E604K;ENSP00000349918:E555K;ENSP00000351413:E511K	ENSP00000242786:E604K	E	+	1	0	CD97	14377740	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.618000	0.24373	-0.771000	0.04608	-0.314000	0.08810	GAA	CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CD97		0.697	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	G	NM_078481		14516740	1	no_errors	ENST00000242786	ensembl	human	known	70_37	missense	SNP	0.000	A	A	14516740	G	A	14516740	3	1	10	1	0	0	0	0	1	0	0	0	3054	1059	37	1	1864	1	CD97	19	14516740	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	5063227	14516740	44612243	185	1195										
MYO9B	4650	genome.wustl.edu	37	chr19	17263479	17263479	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcgtcgagaaatatctgcttGaaaagtctcgcctggtgtct	10	9	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:17263479G>C	ENST00000594824.1	+	4	1108	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.E321Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.E321Q|CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	321	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATATCTGCTTGAAAAGTCTCG	0.383																																																	0													103	98	100					19																	17263479		1889	4118	6007	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.961G>C	19.37:g.17263479G>C	ENSP00000471367:p.Glu321Gln		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E321Q	ENST00000594824.1	37	c.961		19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887948	0.91814	.	.	ENSG00000099331	ENST00000397274	D	0.82984	-1.67	5.04	5.04	0.67666	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000051	D	0.94407	0.8201	H	0.97465	4.01	0.52501	D	0.999956	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.99	D	0.96443	0.9328	10	0.87932	D	0	.	16.9399	0.86215	0.0:0.0:1.0:0.0	.	321;321;327	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	321	ENSP00000380444:E321Q	ENSP00000380444:E321Q	E	+	1	0	MYO9B	17124479	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	9.148000	0.94652	2.338000	0.79540	0.561000	0.74099	GAA	MYO9B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.383	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17263479	1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17263479	G	C	17263479	3	2	10	1	0	0	0	0	1	0	0	0	10108	1291	45	1	971	1	MYO9B	19	17263479	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	2746739	17263479	41865504	186	1196										
FKBP8	23770	genome.wustl.edu	37	chr19	18643524	18643524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cagccggctggggttgcccaGcattttccggtacaaggcgg	15	12	0	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:18643524G>T	ENST00000596558.2	-	8	1211	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	FKBP8_ENST00000222308.4_Missense_Mutation_p.L368M|FKBP8_ENST00000608443.1_Missense_Mutation_p.L369M|FKBP8_ENST00000597960.3_Missense_Mutation_p.L369M|AC005387.3_ENST00000597837.2_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.L397M|FKBP8_ENST00000610101.1_Missense_Mutation_p.L209M|AC005387.2_ENST00000596596.1_RNA			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	368					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGTTGCCCAGCATTTTCCGG	0.647																																																	0													41	38	39					19																	18643524		2203	4300	6503	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.1102C>A	19.37:g.18643524G>T	ENSP00000472302:p.Leu368Met		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L397M	ENST00000596558.2	37	c.1189		19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358910	0.82353	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.42131	0.98;1.7;1.24	5.24	4.21	0.49690	.	0.000000	0.64402	D	0.000005	T	0.45935	0.1367	N	0.14661	0.345	0.58432	D	0.999999	D;D;P;P	0.71674	0.998;0.989;0.907;0.936	D;P;P;P	0.83275	0.996;0.849;0.622;0.725	T	0.49133	-0.8971	10	0.51188	T	0.08	-14.0994	12.6322	0.56663	0.0814:0.0:0.9186:0.0	.	397;312;368;369	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	M	369;209;397	ENSP00000222308:L369M;ENSP00000441267:L209M;ENSP00000388891:L397M	ENSP00000222308:L369M	L	-	1	2	FKBP8	18504524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.841000	0.69409	1.215000	0.43411	0.655000	0.94253	CTG	FKBP8	-	NULL		0.647	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	G	NM_012181		18643524	-1	no_errors	ENST00000453489	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18643524	G	T	18643524	3	4	10	1	0	0	0	0	1	0	0	0	5932	962	34	4	144	4	FKBP8	19	18643524	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1380045	18643524	40485459	187	1197										
ZNF676	163223	genome.wustl.edu	37	chr19	22362882	22362882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcttgtgtctagtaaggcttGaggatctgctgaaggctttg	13	6	3	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:22362882G>A	ENST00000397121.2	-	3	1954	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTAAGGCTTGAGGATCTGCT	0.408																																																	0													63	66	65					19																	22362882		2127	4254	6381	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1637C>T	19.37:g.22362882G>A	ENSP00000380310:p.Ser546Leu		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S546L	ENST00000397121.2	37	c.1637	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	12.14	1.847787	0.32606	.	.	ENSG00000196109	ENST00000397121	T	0.01705	4.68	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	M	0.74647	2.275	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28267	-1.0049	9	0.66056	D	0.02	.	8.4124	0.32651	0.0:0.0:1.0:0.0	.	546	Q8N7Q3	ZN676_HUMAN	L	546	ENSP00000380310:S546L	ENSP00000380310:S546L	S	-	2	0	ZNF676	22154722	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.500000	0.06405	0.191000	0.20236	0.194000	0.17425	TCA	ZNF676	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	G	NM_001001411		22362882	-1	no_errors	ENST00000397121	ensembl	human	known	70_37	missense	SNP	0.004	A	A	22362882	G	A	22362882	3	1	10	1	0	0	0	0	1	0	0	0	18113	1294	45	1	133	1	ZNF676	19	22362882	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	3719358	22362882	36766101	188	1198										
ZNF227	7770	genome.wustl.edu	37	chr19	44740265	44740265	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	taaggacttcagttatagttCaaatcttaaactacaccaag	5	8	3	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:44740265C>G	ENST00000313040.7	+	6	1887	c.1682C>G	c.(1681-1683)tCa>tGa	p.S561*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S510*|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S510*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTTATAGTTCAAATCTTAAA	0.413																																																	0													72	78	76					19																	44740265		2203	4300	6503	SO:0001587	stop_gained	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1682C>G	19.37:g.44740265C>G	ENSP00000321049:p.Ser561*		B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S561*	ENST00000313040.7	37	c.1682	CCDS12636.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378186	0.82682	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	4.4	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.0326	0.30474	0.1629:0.7436:0.0:0.0935	.	.	.	.	X	561;518;510;540	.	ENSP00000321049:S561X	S	+	2	0	ZNF227	49432105	0.000000	0.05858	0.073000	0.20177	0.498000	0.33706	-0.337000	0.07852	2.143000	0.66587	0.655000	0.94253	TCA	ZNF227	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	C	NM_182490		44740265	1	no_errors	ENST00000313040	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	44740265	C	G	44740265	4	3	10	1	0	0	0	0	0	1	0	0	17811	838	29	1	1696	1	ZNF227	19	44740265	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	22377383	44740265	14388718	189	1199										
ZNF615	284370	genome.wustl.edu	37	chr19	52496664	52496664	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tgagtgcgccgatgtacattGagatgactcttctcagtgaa	11	8	2	4			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:52496664G>C	ENST00000602063.1	-	6	2014	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	ZNF615_ENST00000594083.1_Silent_p.L566L|ZNF615_ENST00000391795.3_Silent_p.L560L|ZNF615_ENST00000376716.5_Silent_p.L555L|ZNF615_ENST00000598071.1_Silent_p.L566L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATGTACATTGAGATGACTCT	0.448																																																	0													118	103	108					19																	52496664		2203	4300	6503	SO:0001819	synonymous_variant	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1665C>G	19.37:g.52496664G>C			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L566	ENST00000602063.1	37	c.1698	CCDS12846.1	19																																																																																			ZNF615	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	G	NM_198480		52496664	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	silent	SNP	0.004	C	C	52496664	G	C	52496664	2	2	10	1	0	0	0	0	0	0	0	1	18070	1277	45	1		1	ZNF615	19	52496664	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	7756399	52496664	6632319	190	1200										
NLRP12	91662	genome.wustl.edu	37	chr19	54327207	54327207	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tttatccgctcaaaggtgctGagagccaacctccaggcctc	9	14	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:54327207G>C	ENST00000324134.6	-	1	390	c.222C>G	c.(220-222)ctC>ctG	p.L74L	NLRP12_ENST00000535162.1_Silent_p.L74L|NLRP12_ENST00000391775.3_Silent_p.L74L|NLRP12_ENST00000354278.3_Silent_p.L74L|NLRP12_ENST00000391772.1_Silent_p.L74L|NLRP12_ENST00000345770.5_Silent_p.L74L|NLRP12_ENST00000351894.4_Silent_p.L74L|NLRP12_ENST00000391773.1_Silent_p.L74L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	74	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAAGGTGCTGAGAGCCAACC	0.607																																																	0													101	99	99					19																	54327207		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.222C>G	19.37:g.54327207G>C			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L74	ENST00000324134.6	37	c.222	CCDS12864.1	19																																																																																			NLRP12	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN		0.607	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54327207	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	silent	SNP	0.004	C	C	54327207	G	C	54327207	2	2	10	1	0	0	0	0	0	0	0	1	10498	1277	45	1		1	NLRP12	19	54327207	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	1830543	54327207	4801776	191	1201										
C20orf186	149954	genome.wustl.edu	37	chr20	31673928	31673928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcggctggtcattgagcgatGtgacaccctcctagggggca	14	11	1	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr20:31673928G>C	ENST00000375483.3	+	5	884	c.884G>C	c.(883-885)tGt>tCt	p.C295S		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	295						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATTGAGCGATGTGACACCCTC	0.577																																																	0													94	78	83					20																	31673928		2203	4300	6503	SO:0001583	missense	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.884G>C	20.37:g.31673928G>C	ENSP00000364632:p.Cys295Ser		Q5TDX6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.C295S	ENST00000375483.3	37	c.884	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594879	0.66219	.	.	ENSG00000186191	ENST00000375483	T	0.56776	0.44	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.72894	2.215	0.45272	D	0.998273	D	0.89917	1.0	D	0.87578	0.998	T	0.72520	-0.4268	10	0.87932	D	0	-9.2527	11.3408	0.49531	0.0:0.0:1.0:0.0	.	295	P59827	BPIB4_HUMAN	S	295	ENSP00000364632:C295S	ENSP00000364632:C295S	C	+	2	0	BPIFB4	31137589	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.349000	0.66010	2.028000	0.59812	0.491000	0.48974	TGT	BPIFB4	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.577	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	G	NM_182519		31673928	1	no_errors	ENST00000375483	ensembl	human	known	70_37	missense	SNP	0.998	C	C	31673928	G	C	31673928	3	2	10	1	0	0	0	0	1	0	0	0	2103	1377	48	4	902	4	C20orf186	20	31673928	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08		31673928	31351592	192	1202										
CDH22	64405	genome.wustl.edu	37	chr20	44879767	44879767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cgcgtttgacgcggccggctCccagcgcgccgtcctgccga	14	18	0	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr20:44879767C>T	ENST00000372262.3	-	1	567	c.167G>A	c.(166-168)gGa>gAa	p.G56E	CDH22_ENST00000537909.1_Missense_Mutation_p.G56E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	56					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGCCGGCTCCCAGCGCGCC	0.721																																																	0													15	18	17					20																	44879767		2169	4234	6403	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.167G>A	20.37:g.44879767C>T	ENSP00000361336:p.Gly56Glu		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G56E	ENST00000372262.3	37	c.167	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	c	10.27	1.304992	0.23736	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.58210	0.35;0.35	3.29	2.25	0.28309	.	0.427455	0.20971	U	0.082381	T	0.25865	0.0630	N	0.08118	0	0.09310	N	1	P	0.44877	0.845	B	0.37346	0.247	T	0.09250	-1.0683	10	0.30078	T	0.28	.	8.335	0.32208	0.0:0.6206:0.3794:0.0	.	56	Q9UJ99	CAD22_HUMAN	E	56	ENSP00000361336:G56E;ENSP00000437790:G56E	ENSP00000361336:G56E	G	-	2	0	CDH22	44313174	0.032000	0.19561	0.035000	0.18076	0.797000	0.45037	0.701000	0.25616	1.679000	0.50963	0.187000	0.17357	GGA	CDH22	-	NULL		0.721	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	C	NM_021248		44879767	-1	no_errors	ENST00000372262	ensembl	human	known	70_37	missense	SNP	0.001	T	T	44879767	C	T	44879767	3	4	10	1	0	0	0	0	1	0	0	0	3112	855	30	1	2363	1	CDH22	20	44879767	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	13205839	44879767	18145753	193	1203										
TCF20	6942	genome.wustl.edu	37	chr22	42608264	42608264	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ctccgcccaggagacattttCaatttttctgcaaagtcatg	7	11	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr22:42608264C>G	ENST00000359486.3	-	1	3184	c.3048G>C	c.(3046-3048)ttG>ttC	p.L1016F	TCF20_ENST00000335626.4_Missense_Mutation_p.L1016F|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GAGACATTTTCAATTTTTCTG	0.557																																																	0													43	48	46					22																	42608264		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3048G>C	22.37:g.42608264C>G	ENSP00000352463:p.Leu1016Phe		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.L1016F	ENST00000359486.3	37	c.3048	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505242	0.44558	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.67865	-0.29;-0.29	5.92	3.85	0.44370	.	0.355112	0.23614	N	0.046307	T	0.67192	0.2867	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.64237	0.923;0.84	T	0.69018	-0.5256	10	0.56958	D	0.05	-7.2586	12.6396	0.56702	0.0:0.8665:0.0:0.1335	.	1016;1016	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	1016	ENSP00000352463:L1016F;ENSP00000335561:L1016F	ENSP00000335561:L1016F	L	-	3	2	TCF20	40938208	1.000000	0.71417	0.948000	0.38648	0.718000	0.41266	2.094000	0.41719	0.848000	0.35191	0.655000	0.94253	TTG	TCF20	-	NULL		0.557	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42608264	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42608264	C	G	42608264	3	3	10	1	0	0	0	0	1	0	0	0	15720	825	29	1	2872	1	TCF20	22	42608264	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		42608264	8696302	194	1204										
MXRA5	25878	genome.wustl.edu	37	chrX	3228968	3228968	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ccacaccgtcttcctatcctCtcccgcgctgttcctgacca	5	20	2	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:3228968C>T	ENST00000217939.6	-	7	7430	c.7276G>A	c.(7276-7278)Gag>Aag	p.E2426K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2426	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCTATCCTCTCCCGCGCTG	0.552													C|||	1	0.000264901	0	0	3775	,	,		14656	0.001		0	False		,,,				2504	0																0													106	64	78					X																	3228968		2202	4300	6502	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7276G>A	X.37:g.3228968C>T	ENSP00000217939:p.Glu2426Lys		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E2426K	ENST00000217939.6	37	c.7276	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582612	0.46006	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66280	-0.2	3.78	3.78	0.43462	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38436	U	0.001684	T	0.71005	0.3289	L	0.42581	1.335	0.36053	D	0.840914	D	0.67145	0.996	D	0.72075	0.976	T	0.76130	-0.3072	10	0.36615	T	0.2	.	15.4341	0.75129	0.0:1.0:0.0:0.0	.	2426	Q9NR99	MXRA5_HUMAN	K	2426	ENSP00000217939:E2426K	ENSP00000217939:E2426K	E	-	1	0	MXRA5	3238968	0.994000	0.37717	0.221000	0.23827	0.033000	0.12548	2.806000	0.47947	1.526000	0.49068	0.597000	0.82753	GAG	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.552	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3228968	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3228968	C	T	3228968	3	4	10	1	0	0	0	0	1	0	0	0	10026	922	32	1	1214	1	MXRA5	23	3228968	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08		3228968	152041592	195	1205										
ARHGAP6	395	genome.wustl.edu	37	chrX	11207064	11207064	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	taggccctgtcattcgcaatGacttgggataagggcattcc	11	10	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:11207064G>A	ENST00000337414.4	-	4	1733	c.861C>T	c.(859-861)gtC>gtT	p.V287V	ARHGAP6_ENST00000413512.3_Silent_p.V96V|ARHGAP6_ENST00000380732.3_Silent_p.V319V|ARHGAP6_ENST00000380736.1_Silent_p.V84V|ARHGAP6_ENST00000380718.1_Silent_p.V287V|ARHGAP6_ENST00000303025.6_Silent_p.V84V|ARHGAP6_ENST00000534860.1_Silent_p.V112V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	287					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CATTCGCAATGACTTGGGATA	0.458																																																	0													89	73	78					X																	11207064		2203	4300	6503	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.861C>T	X.37:g.11207064G>A			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V287	ENST00000337414.4	37	c.861	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.458	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11207064	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	silent	SNP	0.988	A	A	11207064	G	A	11207064	2	1	10	1	0	0	0	0	0	0	0	1	887	1277	45	1		1	ARHGAP6	23	11207064	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	7978096	11207064	144063496	196	1206										
ARHGAP6	395	genome.wustl.edu	37	chrX	11207091	11207091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	gataagggcattccaaatgcCtgtgggatgaattctggaat	12	6	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:11207091C>A	ENST00000337414.4	-	4	1706	c.834G>T	c.(832-834)caG>caT	p.Q278H	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q87H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q310H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q75H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q278H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q75H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q103H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	278					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCCAAATGCCTGTGGGATGA	0.438																																																	0													70	59	63					X																	11207091		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.834G>T	X.37:g.11207091C>A	ENSP00000338967:p.Gln278His		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q278H	ENST00000337414.4	37	c.834	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657435	0.47467	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24350	1.88;1.86;1.86;1.86;1.87;1.88;1.93;1.94	5.51	1.82	0.25136	Rho GTPase-activating protein domain (1);	0.000000	0.51477	D	0.000097	T	0.15739	0.0379	N	0.19112	0.55	0.58432	D	0.999999	B;B;P;P;P	0.42357	0.069;0.32;0.488;0.608;0.777	B;B;B;B;B	0.39339	0.021;0.081;0.295;0.297;0.297	T	0.02893	-1.1097	10	0.59425	D	0.04	.	9.7521	0.40481	0.0:0.712:0.0:0.288	.	87;75;278;278;278	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	103;75;75;278;114;278;87;310	ENSP00000438135:Q103H;ENSP00000370112:Q75H;ENSP00000302312:Q75H;ENSP00000338967:Q278H;ENSP00000370093:Q114H;ENSP00000370094:Q278H;ENSP00000389394:Q87H;ENSP00000370108:Q310H	ENSP00000302312:Q75H	Q	-	3	2	ARHGAP6	11117012	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.912000	0.39946	-0.053000	0.13289	0.600000	0.82982	CAG	ARHGAP6	-	NULL		0.438	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11207091	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11207091	C	A	11207091	3	1	10	1	0	0	0	0	1	0	0	0	887	680	24	4	2252	4	ARHGAP6	23	11207091	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	27	11207091	144063469	197	1207										
KLHL15	80311	genome.wustl.edu	37	chrX	24024244	24024244	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tctatctctgggaacctgctCagatgatcattatccaagta	7	10	4	2			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:24024244C>T	ENST00000328046.8	-	3	822	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	189	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GGAACCTGCTCAGATGATCAT	0.473																																																	0													153	135	141					X																	24024244		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.567G>A	X.37:g.24024244C>T			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L189	ENST00000328046.8	37	c.567	CCDS35217.1	X																																																																																			KLHL15	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.473	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	C	XM_040383		24024244	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24024244	C	T	24024244	2	4	10	1	0	0	0	0	0	0	0	1	8391	813	29	1		1	KLHL15	23	24024244	Silent	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	12817153	24024244	131246316	198	1208										
CCDC120	90060	genome.wustl.edu	37	chrX	48925127	48925127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ggggcctgccccgcagtggcGgtggaacaggctggggggag	22	10	0	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:48925127G>A	ENST00000376396.3	+	10	1591	c.1372G>A	c.(1372-1374)Ggt>Agt	p.G458S	CCDC120_ENST00000603986.1_Missense_Mutation_p.G493S|CCDC120_ENST00000597275.1_Missense_Mutation_p.G458S|CCDC120_ENST00000422185.2_Missense_Mutation_p.G458S|CCDC120_ENST00000496529.2_Missense_Mutation_p.G458S|CCDC120_ENST00000536628.2_Missense_Mutation_p.G446S	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	458	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCGCAGTGGCGGTGGAACAGG	0.706																																																	0													17	20	19					X																	48925127		2198	4287	6485	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1372G>A	X.37:g.48925127G>A	ENSP00000365577:p.Gly458Ser		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	pfam_DUF3338	p.G458S	ENST00000376396.3	37	c.1372	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934019	0.18206	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.28	1.53	0.23141	.	0.576480	0.17861	N	0.159538	T	0.34803	0.0910	N	0.22421	0.69	0.09310	N	1	D;P;B;P	0.89917	1.0;0.663;0.418;0.663	D;B;B;B	0.76071	0.987;0.082;0.01;0.082	T	0.23119	-1.0197	9	0.09843	T	0.71	-20.0537	5.903	0.18978	0.3581:0.0:0.6419:0.0	.	446;493;446;458	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	S	458;458;446	.	ENSP00000365577:G458S	G	+	1	0	CCDC120	48812071	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.158000	0.16422	0.076000	0.16826	-0.422000	0.05995	GGT	CCDC120	-	NULL		0.706	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	G	NM_033626		48925127	1	no_errors	ENST00000422185	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48925127	G	A	48925127	3	1	10	1	0	0	0	0	1	0	0	0	2761	1116	39	2	1402	2	CCDC120	23	48925127	Missense_Mutation	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	24900883	48925127	106345433	199	1209										
NRK	203447	genome.wustl.edu	37	chrX	105152804	105152804	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	tcctgcatggggaaccctctCagccaaggtggctacctgat	11	13	1	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:105152804C>T	ENST00000243300.9	+	13	1474	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	NRK_ENST00000428173.2_Nonsense_Mutation_p.Q392*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	391					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCTCTCAGCCAAGGTG	0.552										HNSCC(51;0.14)																																							0													48	48	48					X																	105152804		2031	4175	6206	SO:0001587	stop_gained	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1171C>T	X.37:g.105152804C>T	ENSP00000434830:p.Gln391*		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.Q392*	ENST00000243300.9	37	c.1174		X	.	.	.	.	.	.	.	.	.	.	C	39	7.771723	0.98480	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	5.05	5.05	0.67936	.	0.000000	0.47455	D	0.000229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.6195	0.45472	0.0:0.8106:0.1894:0.0	.	.	.	.	X	391;392	.	ENSP00000434830:Q391X	Q	+	1	0	NRK	105039460	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.233000	0.51311	2.481000	0.83766	0.600000	0.82982	CAG	NRK	-	NULL		0.552	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	C	NM_198465		105152804	1	no_errors	ENST00000428173	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	105152804	C	T	105152804	4	4	10	1	0	0	0	0	0	1	0	0	10679	827	29	1	1221	1	NRK	23	105152804	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	56227677	105152804	50117756	200	1210										
NRK	203447	genome.wustl.edu	37	chrX	105153049	105153049	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	aaggcacctccacgactacgGagggcagccagggtgctcat	13	13	1	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:105153049G>C	ENST00000243300.9	+	13	1719	c.1416G>C	c.(1414-1416)cgG>cgC	p.R472R	NRK_ENST00000428173.2_Silent_p.R473R	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	472	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACGACTACGGAGGGCAGCCA	0.562										HNSCC(51;0.14)																																							0													40	41	40					X																	105153049		2036	4171	6207	SO:0001819	synonymous_variant	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1416G>C	X.37:g.105153049G>C			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R473	ENST00000243300.9	37	c.1419		X																																																																																			NRK	-	NULL		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	G	NM_198465		105153049	1	no_errors	ENST00000428173	ensembl	human	known	70_37	silent	SNP	0.000	C	C	105153049	G	C	105153049	2	2	10	1	0	0	0	0	0	0	0	1	10679	1161	41	1		1	NRK	23	105153049	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	245	105153049	50117511	201	1211										
UTP14A	10813	genome.wustl.edu	37	chrX	129041400	129041400	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	ttgccaaaagactacctcttGagtgagagtgaagatgaggt	12	6	1	6			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:129041400G>A	ENST00000394422.3	+	2	112	c.84G>A	c.(82-84)ttG>ttA	p.L28L	UTP14A_ENST00000371051.5_5'UTR|UTP14A_ENST00000425117.2_Silent_p.L28L|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	28					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						actacctcttgagtgagagtg	0.438																																																	0													101	84	90					X																	129041400		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.84G>A	X.37:g.129041400G>A			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	pfam_SSU_processome_Utp14	p.L28	ENST00000394422.3	37	c.84	CCDS14615.1	X																																																																																			UTP14A	-	NULL		0.438	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129041400	1	no_errors	ENST00000394422	ensembl	human	known	70_37	silent	SNP	0.001	A	A	129041400	G	A	129041400	2	1	10	1	0	0	0	0	0	0	0	1	17126	1281	45	1		1	UTP14A	23	129041400	Silent	SNP	G	TCGA-C5-A1BL-01A-11D-A13W-08	23888351	129041400	26229160	202	1212										
CDR1	1038	genome.wustl.edu	37	chrX	139866366	139866366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	atccgtgtcttccagcaaatCcacgtcttccaacaaagcca	5	15	2	0			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:139866366C>A	ENST00000370532.2	-	1	357	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	56	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGCAAATCCACGTCTTCC	0.443																																																	0													119	111	114					X																	139866366		2203	4300	6503	SO:0001583	missense	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.166G>T	X.37:g.139866366C>A	ENSP00000359563:p.Asp56Tyr		Q5JXH6	Missense_Mutation	SNP	NULL	p.D56Y	ENST00000370532.2	37	c.166	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149797	0.37923	.	.	ENSG00000184258	ENST00000370532	T	0.34667	1.35	4.7	0.995	0.19838	.	.	.	.	.	T	0.31167	0.0788	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	P	0.52386	0.697	T	0.13335	-1.0513	8	.	.	.	.	5.8907	0.18911	0.0:0.6277:0.1464:0.2259	.	56	P51861	CDR1_HUMAN	Y	56	ENSP00000359563:D56Y	.	D	-	1	0	CDR1	139694032	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.223000	0.09177	-0.063000	0.13065	-0.337000	0.08149	GAT	CDR1	-	NULL		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	C	NM_004065		139866366	-1	no_errors	ENST00000370532	ensembl	human	known	70_37	missense	SNP	0.002	A	A	139866366	C	A	139866366	3	1	10	1	0	0	0	0	1	0	0	0	3176	855	30	3	626	3	CDR1	23	139866366	Missense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	10824966	139866366	15404194	203	1213										
MTMR1	8776	genome.wustl.edu	37	chrX	149931144	149931144	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.504901960784314	103	4.89654858072899e-35	3.65555432589578	4.6318631630623	3.17581636280534	0.0297261869608484	0.097743733396688	75	cacgcgcgccgtctcatcctCatctgagcggggctcctcgc	11	18	3	1			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:149931144C>A	ENST00000370390.3	+	15	2097	c.1940C>A	c.(1939-1941)tCa>tAa	p.S647*	MTMR1_ENST00000541925.1_Nonsense_Mutation_p.S553*|MTMR1_ENST00000445323.2_Nonsense_Mutation_p.S655*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.S647*|MTMR1_ENST00000538506.1_Intron	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	647	Poly-Ser.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCATCCTCATCTGAGCGG	0.672																																																	0													54	51	52					X																	149931144		2203	4300	6503	SO:0001587	stop_gained	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1940C>A	X.37:g.149931144C>A	ENSP00000359417:p.Ser647*		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Nonsense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.S655*	ENST00000370390.3	37	c.1964	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.590354	0.97688	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	.	.	.	5.14	5.14	0.70334	.	0.175497	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8016	0.88589	0.0:1.0:0.0:0.0	.	.	.	.	X	553;647;655;647	.	ENSP00000359417:S647X	S	+	2	0	MTMR1	149681802	0.992000	0.36948	0.008000	0.14137	0.543000	0.35085	5.462000	0.66707	2.134000	0.65973	0.529000	0.55759	TCA	MTMR1	-	NULL		0.672	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	C	NM_003828, NM_176789		149931144	1	no_errors	ENST00000445323	ensembl	human	known	70_37	nonsense	SNP	0.865	A	A	149931144	C	A	149931144	4	1	10	1	0	0	0	0	0	1	0	0	9961	838	29	3	1998	3	MTMR1	23	149931144	Nonsense_Mutation	SNP	C	TCGA-C5-A1BL-01A-11D-A13W-08	10064778	149931144	5339416	204	1214										
MTOR	2475	genome.wustl.edu	37	chr1	11184646	11184646	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acgctcatcctggcgcagatCttcatggccttttagaagga	10	11	3	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:11184646C>G	ENST00000361445.4	-	47	6647	c.6571G>C	c.(6571-6573)Gat>Cat	p.D2191H	MTOR_ENST00000376838.1_Missense_Mutation_p.D396H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2191	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGCGCAGATCTTCATGGCCT	0.507																																																	0													133	111	118					1																	11184646		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6571G>C	1.37:g.11184646C>G	ENSP00000354558:p.Asp2191His		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D2191H	ENST00000361445.4	37	c.6571	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911769	0.92178	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.91180	-2.8;-2.8	5.84	5.84	0.93424	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	H	0.99971	5.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99421	1.0933	10	0.87932	D	0	-14.0055	18.3151	0.90218	0.0:1.0:0.0:0.0	.	2191	P42345	MTOR_HUMAN	H	2191;396	ENSP00000354558:D2191H;ENSP00000366034:D396H	ENSP00000354558:D2191H	D	-	1	0	MTOR	11107233	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.386000	0.79775	2.765000	0.95021	0.655000	0.94253	GAT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11184646	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11184646	C	G	11184646	3	3	11	1	0	0	0	0	1	0	0	0	9977	913	32	1	1126	1	MTOR	1	11184646	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		11184646	238065975	1	1215										
TIE1	7075	genome.wustl.edu	37	chr1	43784988	43784988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgcagacttcggcctttctcGgggagaggaggtttatgtga	15	7	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:43784988G>A	ENST00000372476.3	+	18	3084	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1002	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572																																																	0													101	97	98					1																	43784988		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3005G>A	1.37:g.43784988G>A	ENSP00000361554:p.Arg1002Gln		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1002Q	ENST00000372476.3	37	c.3005	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.840494	0.97009	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84873	-1.91;-1.91	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35349	N	0.003272	D	0.93867	0.8038	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.93912	0.7198	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	957;647;1002	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	Q	1002;405;285;647	ENSP00000361554:R1002Q;ENSP00000411728:R647Q	ENSP00000361553:R405Q	R	+	2	0	TIE1	43557575	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	9.807000	0.99171	2.837000	0.97791	0.655000	0.94253	CGG	TIE1	-	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,pfscan_Prot_kinase_cat_dom		0.572	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43784988	1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43784988	G	A	43784988	3	1	11	1	0	0	0	0	1	0	0	0	15923	1116	39	2	3075	2	TIE1	1	43784988	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	32600342	43784988	205465633	2	1216										
PDE4B	5142	genome.wustl.edu	37	chr1	66384436	66384436	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtgaaagggcaaggactcctGagggagatggtatttccagg	16	6	0	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:66384436G>C	ENST00000329654.4	+	3	386	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	PDE4B_ENST00000371049.3_Missense_Mutation_p.E67Q	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	67					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AAGGACTCCTGAGGGAGATGG	0.502																																																	0													108	101	103					1																	66384436		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.199G>C	1.37:g.66384436G>C	ENSP00000332116:p.Glu67Gln		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.E67Q	ENST00000329654.4	37	c.199	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850407	0.51270	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.17528	2.27;2.27;2.27	5.6	5.6	0.85130	.	0.539852	0.20696	N	0.087372	T	0.04497	0.0123	N	0.12182	0.205	0.36899	D	0.890324	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	10	0.17832	T	0.49	.	16.3143	0.82909	0.0:0.0:1.0:0.0	.	67	Q07343	PDE4B_HUMAN	Q	67	ENSP00000332116:E67Q;ENSP00000342637:E67Q;ENSP00000360088:E67Q	ENSP00000332116:E67Q	E	+	1	0	PDE4B	66157024	1.000000	0.71417	0.955000	0.39395	0.765000	0.43378	8.240000	0.89813	2.626000	0.88956	0.650000	0.86243	GAG	PDE4B	-	NULL		0.502	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66384436	1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	0.998	C	C	66384436	G	C	66384436	3	2	11	1	0	0	0	0	1	0	0	0	11664	1291	45	1	205	1	PDE4B	1	66384436	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	22599448	66384436	182866185	3	1217										
PIGK	10026	genome.wustl.edu	37	chr1	77685079	77685079	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gcccggctgaggctgtcggtGacggccatgtttaccggctt	15	12	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:77685079G>A	ENST00000370812.3	-	1	32	c.9C>T	c.(7-9)gtC>gtT	p.V3V	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Silent_p.V3V|PIGK_ENST00000359130.1_Silent_p.V3V|PIGK_ENST00000445065.1_Silent_p.V3V	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	3				MAVT -> SLHEA (in Ref. 1). {ECO:0000305}.	attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GGCTGTCGGTGACGGCCATGT	0.607																																																	0													27	27	27					1																	77685079		2203	4300	6503	SO:0001819	synonymous_variant	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.9C>T	1.37:g.77685079G>A			B2R7K3|B4E2M3|O14822|Q5TG77	Silent	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.V3	ENST00000370812.3	37	c.9	CCDS674.1	1																																																																																			PIGK	-	NULL		0.607	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	G	NM_005482		77685079	-1	no_errors	ENST00000370812	ensembl	human	known	70_37	silent	SNP	0.014	A	A	77685079	G	A	77685079	2	1	11	1	0	0	0	0	0	0	0	1	11914	1277	45	1		1	PIGK	1	77685079	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	11300643	77685079	171565542	4	1218										
NTNG1	22854	genome.wustl.edu	37	chr1	107937833	107937833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gacaacagcaaattgacatgCgaatgtgagcacaacactac	8	10	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:107937833C>T	ENST00000370068.1	+	4	1791	c.945C>T	c.(943-945)tgC>tgT	p.C315C	NTNG1_ENST00000370074.4_Silent_p.C315C|NTNG1_ENST00000370071.2_Silent_p.C315C|NTNG1_ENST00000370066.1_Silent_p.C315C|NTNG1_ENST00000370067.1_Silent_p.C315C|NTNG1_ENST00000370073.2_Silent_p.C315C|NTNG1_ENST00000370065.1_Silent_p.C315C|NTNG1_ENST00000370072.3_Silent_p.C315C|NTNG1_ENST00000542803.1_Silent_p.C315C|NTNG1_ENST00000370061.3_Silent_p.C315C|NTNG1_ENST00000370070.2_Silent_p.C315C			Q9Y2I2	NTNG1_HUMAN	netrin G1	315	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AATTGACATGCGAATGTGAGC	0.483																																																	0													203	191	195					1																	107937833		2203	4300	6503	SO:0001819	synonymous_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.945C>T	1.37:g.107937833C>T			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.C315	ENST00000370068.1	37	c.945	CCDS44180.1	1																																																																																			NTNG1	-	pfam_EGF_laminin,smart_EGF_laminin		0.483	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	C	NM_014917		107937833	1	no_errors	ENST00000370068	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107937833	C	T	107937833	2	4	11	1	0	0	0	0	0	0	0	1	10728	776	27	2		2	NTNG1	1	107937833	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	30252754	107937833	141312788	5	1219										
C1orf56	54964	genome.wustl.edu	37	chr1	151021205	151021205	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cccttccccaccatccacctCagaagcagtcccagcctgcc	5	22	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:151021205C>T	ENST00000368926.5	+	1	990	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	294						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATCCACCTCAGAAGCAGTC	0.592											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)												0													103	113	110					1																	151021205		2203	4300	6503	SO:0001819	synonymous_variant	54964			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.882C>T	1.37:g.151021205C>T		1737	B2RDU8|Q9NWZ4	Silent	SNP	superfamily_Thrombospondin_1_rpt	p.L294	ENST00000368926.5	37	c.882	CCDS980.1	1																																																																																			C1orf56	-	NULL		0.592	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1	C	NM_017860		151021205	1	no_errors	ENST00000368926	ensembl	human	known	70_37	silent	SNP	0.000	T	T	151021205	C	T	151021205	2	4	11	1	0	0	0	0	0	0	0	1	2053	813	29	1		1	C1orf56	1	151021205	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	43083372	151021205	98229416	6	1220										
C1orf112	55732	genome.wustl.edu	37	chr1	169771780	169771780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	agactgtgaaattattcgatGacatgatgtatgaattaacc	8	5	0	5			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:169771780G>A	ENST00000286031.6	+	4	785	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C1orf112_ENST00000456684.1_Missense_Mutation_p.D87N|C1orf112_ENST00000413811.2_5'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.D29N	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	29										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTATTCGATGACATGATGTA	0.323																																																	0													65	69	67					1																	169771780		2203	4298	6501	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.85G>A	1.37:g.169771780G>A	ENSP00000286031:p.Asp29Asn		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.D29N	ENST00000286031.6	37	c.85	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168485	0.38315	.	.	ENSG00000000460	ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.69306	0.98;-0.39;0.98	5.91	5.0	0.66597	.	0.562433	0.21736	N	0.069889	T	0.37785	0.1016	L	0.46157	1.445	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.31280	-0.9949	10	0.19590	T	0.45	-1.0488	7.8567	0.29487	0.2353:0.0:0.7647:0.0	.	29;87	Q9NSG2;B4DRP7	CA112_HUMAN;.	N	29;87;29	ENSP00000352276:D29N;ENSP00000415583:D87N;ENSP00000286031:D29N	ENSP00000286031:D29N	D	+	1	0	C1orf112	168038404	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.677000	0.46892	1.502000	0.48669	0.655000	0.94253	GAC	C1orf112	-	NULL		0.323	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	G	NM_018186		169771780	1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	0.997	A	A	169771780	G	A	169771780	3	1	11	1	0	0	0	0	1	0	0	0	1990	1290	45	1	91	1	C1orf112	1	169771780	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	18750575	169771780	79478841	7	1221										
ANGPTL1	9068	genome.wustl.edu	37	chr1	178822038	178822038	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcttgattgctaagcatataGatattttccagtccaagcca	6	9	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:178822038G>C	ENST00000234816.2	-	5	1515	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.I356M	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	356	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TAAGCATATAGATATTTTCCA	0.338																																																	0													87	87	87					1																	178822038		2203	4299	6502	SO:0001583	missense	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1068C>G	1.37:g.178822038G>C	ENSP00000234816:p.Ile356Met		Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.I356M	ENST00000234816.2	37	c.1068	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572373	0.65765	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.84070	-1.8;-1.8	5.43	5.43	0.79202	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	M	0.79123	2.44	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	D	0.90126	0.4203	10	0.72032	D	0.01	.	10.7486	0.46196	0.1208:0.0:0.8792:0.0	.	356	O95841	ANGL1_HUMAN	M	356	ENSP00000234816:I356M;ENSP00000356601:I356M	ENSP00000234816:I356M	I	-	3	3	ANGPTL1	177088661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.742000	0.38248	2.544000	0.85801	0.650000	0.86243	ATC	ANGPTL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.338	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	G	NM_004673		178822038	-1	no_errors	ENST00000234816	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178822038	G	C	178822038	3	2	11	1	0	0	0	0	1	0	0	0	613	932	33	1	415	1	ANGPTL1	1	178822038	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	9050258	178822038	70428583	8	1222										
WDR35	57539	genome.wustl.edu	37	chr2	20189768	20189768	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctcactttcttgctcaggtaGaagaacatcgtgggatcccc	9	12	3	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:20189768G>A	ENST00000345530.3	-	1	124	c.9C>T	c.(7-9)ttC>ttT	p.F3F	WDR35_ENST00000281405.4_Silent_p.F3F|AC079145.4_ENST00000416575.1_RNA	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	3					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCAGGTAGAAGAACATCG	0.617																																																	0													83	71	75					2																	20189768		2203	4300	6503	SO:0001819	synonymous_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.9C>T	2.37:g.20189768G>A			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F3	ENST00000345530.3	37	c.9	CCDS33152.1	2																																																																																			WDR35	-	pirsf_WD_repeat_p35		0.617	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	G	NM_020779		20189768	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	silent	SNP	1.000	A	A	20189768	G	A	20189768	2	1	11	1	0	0	0	0	0	0	0	1	17320	933	33	1		1	WDR35	2	20189768	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		20189768	223009605	9	1223										
APOB	338	genome.wustl.edu	37	chr2	21234642	21234642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgtgagggcggctttcccatCcagactgaattttgcattgt	11	9	0	3	rs140783923		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:21234642C>T	ENST00000233242.1	-	26	5225	c.5098G>A	c.(5098-5100)Gat>Aat	p.D1700N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1700					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTCCCATCCAGACTGAAT	0.478																																																	0													124	116	119					2																	21234642		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5098G>A	2.37:g.21234642C>T	ENSP00000233242:p.Asp1700Asn		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D1700N	ENST00000233242.1	37	c.5098	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026043	0.75390	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00840	5.63	5.97	5.97	0.96955	.	0.094275	0.46145	D	0.000319	T	0.04952	0.0133	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.29792	-1.0000	10	0.59425	D	0.04	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	1700	P04114	APOB_HUMAN	N	1700	ENSP00000233242:D1700N	ENSP00000233242:D1700N	D	-	1	0	APOB	21088147	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	6.008000	0.70739	2.834000	0.97654	0.650000	0.86243	GAT	APOB	-	NULL		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21234642	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21234642	C	T	21234642	3	4	11	1	0	0	0	0	1	0	0	0	785	855	30	1	8609	1	APOB	2	21234642	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	1044874	21234642	221964731	10	1224										
IFT172	26160	genome.wustl.edu	37	chr2	27669207	27669207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	caagagtgaaacagaaagccTggcagccacggtttcctggg	13	10	0	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:27669207T>C	ENST00000260570.3	-	43	4778	c.4675A>G	c.(4675-4677)Agg>Ggg	p.R1559G	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1559					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACAGAAAGCCTGGCAGCCACG	0.493																																																	0													86	83	84					2																	27669207		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4675A>G	2.37:g.27669207T>C	ENSP00000260570:p.Arg1559Gly		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.R1559G	ENST00000260570.3	37	c.4675	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165170	0.38217	.	.	ENSG00000138002	ENST00000260570	T	0.48836	0.8	5.2	2.86	0.33363	.	0.155842	0.56097	D	0.000034	T	0.45836	0.1362	L	0.53249	1.67	0.80722	D	1	P	0.39862	0.692	B	0.42522	0.39	T	0.48758	-0.9007	10	0.87932	D	0	-8.7011	10.652	0.45653	0.0:0.0:0.3683:0.6317	.	1559	Q9UG01	IF172_HUMAN	G	1559	ENSP00000260570:R1559G	ENSP00000260570:R1559G	R	-	1	2	IFT172	27522711	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.820000	0.48057	0.806000	0.34183	0.459000	0.35465	AGG	IFT172	-	NULL		0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	T	NM_015662		27669207	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27669207	T	C	27669207	3	2	11	1	0	0	0	0	1	0	0	0	7577	1579	55	5	598	5	IFT172	2	27669207	Missense_Mutation	SNP	T	TCGA-C5-A1BM-01A-11D-A13W-08	6434565	27669207	215530166	11	1225										
APLF	200558	genome.wustl.edu	37	chr2	68804999	68804999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ataatgttgggcaacccaatGagtatgacctgaacgacagc	10	9	0	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:68804999G>C	ENST00000303795.4	+	10	1552	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	461					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCAACCCAATGAGTATGACCT	0.408																																																	0													182	177	179					2																	68804999		2203	4300	6503	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1381G>C	2.37:g.68804999G>C	ENSP00000307004:p.Glu461Gln		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.E461Q	ENST00000303795.4	37	c.1381	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457399	0.84317	.	.	ENSG00000169621	ENST00000303795	T	0.26518	1.73	5.59	5.59	0.84812	.	0.171732	0.49916	D	0.000128	T	0.50000	0.1590	M	0.67953	2.075	0.25357	N	0.988815	D	0.89917	1.0	D	0.68765	0.96	T	0.41413	-0.9510	10	0.46703	T	0.11	.	18.3684	0.90399	0.0:0.0:1.0:0.0	.	461	Q8IW19	APLF_HUMAN	Q	461	ENSP00000307004:E461Q	ENSP00000307004:E461Q	E	+	1	0	APLF	68658503	1.000000	0.71417	0.034000	0.17996	0.238000	0.25445	3.801000	0.55545	2.634000	0.89283	0.650000	0.86243	GAG	APLF	-	NULL		0.408	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	G	NM_173545		68804999	1	no_errors	ENST00000303795	ensembl	human	known	70_37	missense	SNP	0.519	C	C	68804999	G	C	68804999	3	2	11	1	0	0	0	0	1	0	0	0	776	1291	45	1	1419	1	APLF	2	68804999	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	41135792	68804999	174394374	12	1226										
GFPT1	2673	genome.wustl.edu	37	chr2	69554097	69554097	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gccagcaactgtaaagggatCacgctgagaatgccctgcaa	11	11	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:69554097C>T	ENST00000357308.4	-	19	2182	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	GFPT1_ENST00000361060.5_Silent_p.V650V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	668	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTAAAGGGATCACGCTGAGAA	0.458																																																	0													155	131	139					2																	69554097		2203	4300	6503	SO:0001819	synonymous_variant	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.2004G>A	2.37:g.69554097C>T			Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.V668	ENST00000357308.4	37	c.2004	CCDS58713.1	2																																																																																			GFPT1	-	pfam_SIS,tigrfam_GlmS_trans		0.458	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		C			69554097	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	silent	SNP	1.000	T	T	69554097	C	T	69554097	2	4	11	1	0	0	0	0	0	0	0	1	6364	813	29	1		1	GFPT1	2	69554097	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	749098	69554097	173645276	13	1227										
REG1A	5967	genome.wustl.edu	37	chr2	79349971	79349971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gcccttccccatctagaaccGccgctggcactggagcagtg	11	16	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:79349971G>A	ENST00000233735.1	+	5	429	c.326G>A	c.(325-327)cGc>cAc	p.R109H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCTAGAACCGCCGCTGGCAC	0.547																																																	0													101	102	102					2																	79349971		2203	4300	6503	SO:0001583	missense	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.326G>A	2.37:g.79349971G>A	ENSP00000233735:p.Arg109His		P11379|Q4ZG28	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R109H	ENST00000233735.1	37	c.326	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	g	12.52	1.964053	0.34659	.	.	ENSG00000115386	ENST00000233735	T	0.08102	3.13	2.74	1.83	0.25207	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.382988	0.19189	N	0.120467	T	0.08358	0.0208	L	0.61218	1.895	0.26829	N	0.968617	B	0.12630	0.006	B	0.04013	0.001	T	0.14200	-1.0481	10	0.38643	T	0.18	.	4.9037	0.13788	0.1788:0.0:0.8212:0.0	.	109	P05451	REG1A_HUMAN	H	109	ENSP00000233735:R109H	ENSP00000233735:R109H	R	+	2	0	REG1A	79203479	0.015000	0.18098	0.840000	0.33206	0.752000	0.42762	-0.180000	0.09754	1.534000	0.49203	0.557000	0.71058	CGC	REG1A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.547	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	G	NM_002909		79349971	1	no_errors	ENST00000233735	ensembl	human	known	70_37	missense	SNP	0.865	A	A	79349971	G	A	79349971	3	1	11	1	0	0	0	0	1	0	0	0	13240	1087	38	2	340	2	REG1A	2	79349971	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	9795874	79349971	163849402	14	1228										
SNRNP200	23020	genome.wustl.edu	37	chr2	96970571	96970571	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcccggcgggtccggtcaatGagagaacggtcagcttggag	16	10	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:96970571G>A	ENST00000323853.5	-	2	158	c.81C>T	c.(79-81)ctC>ctT	p.L27L	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Silent_p.L27L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	27					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCGGTCAATGAGAGAACGGT	0.507																																																	0													65	60	62					2																	96970571		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.81C>T	2.37:g.96970571G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L27	ENST00000323853.5	37	c.81	CCDS2020.1	2																																																																																			SNRNP200	-	NULL		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	G	NM_014014		96970571	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	silent	SNP	1.000	A	A	96970571	G	A	96970571	2	1	11	1	0	0	0	0	0	0	0	1	14882	1277	45	1		1	SNRNP200	2	96970571	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	17620600	96970571	146228802	15	1229										
SAP130	79595	genome.wustl.edu	37	chr2	128712902	128712902	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggccatagacacgtggatttCagacttgggtttggcactaa	12	8	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:128712902C>T	ENST00000259235.3	-	15	2182	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	SAP130_ENST00000357702.5_Missense_Mutation_p.E720K|SAP130_ENST00000259234.6_Missense_Mutation_p.E693K	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	685					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACGTGGATTTCAGACTTGGGT	0.438																																																	0													72	78	76					2																	128712902		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2053G>A	2.37:g.128712902C>T	ENSP00000259235:p.Glu685Lys		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.E720K	ENST00000259235.3	37	c.2158	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139980	0.77775	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.48	5.48	0.80851	.	0.231983	0.45867	D	0.000324	T	0.59555	0.2202	N	0.19112	0.55	0.53005	D	0.999968	D;D;P;D;P	0.63880	0.988;0.965;0.932;0.993;0.827	P;P;P;D;B	0.64144	0.717;0.655;0.655;0.922;0.345	T	0.51576	-0.8688	9	0.08837	T	0.75	-5.3996	19.4001	0.94625	0.0:1.0:0.0:0.0	.	720;693;685;250;322	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	K	720;685;693	.	ENSP00000259234:E693K	E	-	1	0	SAP130	128429372	1.000000	0.71417	0.914000	0.36105	0.933000	0.57130	7.016000	0.76393	2.583000	0.87209	0.632000	0.83419	GAA	SAP130	-	NULL		0.438	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	C	NM_024545		128712902	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	0.999	T	T	128712902	C	T	128712902	3	4	11	1	0	0	0	0	1	0	0	0	13861	835	29	1	1117	1	SAP130	2	128712902	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	31742331	128712902	114486471	16	1230										
HOXD9	3235	genome.wustl.edu	37	chr2	176988751	176988751	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	agacgcttgagctggagaaaGaattcctcttcaacatgtac	9	9	2	4			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:176988751G>C	ENST00000249499.6	+	2	1316	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	303					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTGGAGAAAGAATTCCTCTT	0.547																																					GBM(47;924 952 7959 9248 12176)												0													97	108	104					2																	176988751		2203	4300	6503	SO:0001583	missense	3235				CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.907G>C	2.37:g.176988751G>C	ENSP00000249499:p.Glu303Gln		Q86ST1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E303Q	ENST00000249499.6	37	c.907	CCDS2267.2	2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878850	0.72294	.	.	ENSG00000128709	ENST00000249499	D	0.96491	-4.03	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98454	0.9485	M	0.93375	3.41	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.99066	1.0832	10	0.87932	D	0	.	12.6107	0.56549	0.0803:0.0:0.9197:0.0	.	303	P28356	HXD9_HUMAN	Q	303	ENSP00000249499:E303Q	ENSP00000249499:E303Q	E	+	1	0	HOXD9	176696997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.637000	0.89404	0.650000	0.86243	GAA	HOXD9	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain		0.547	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD9	HGNC	protein_coding	OTTHUMT00000255698.4	G			176988751	1	no_errors	ENST00000249499	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176988751	G	C	176988751	3	2	11	1	0	0	0	0	1	0	0	0	7346	943	33	1	913	1	HOXD9	2	176988751	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	48275849	176988751	66210622	17	1231										
TTN	7273	genome.wustl.edu	37	chr2	179473514	179473514	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcgggttttgtcttgtctttCttttccaaagtgtagtttat	8	6	3	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:179473514C>G	ENST00000591111.1	-	224	47525	c.47301G>C	c.(47299-47301)aaG>aaC	p.K15767N	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17408N|TTN_ENST00000342175.6_Missense_Mutation_p.K8535N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8343N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8468N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14840N|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15767	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTCTTTCTTTTCCAAAG	0.373																																																	0													120	109	113					2																	179473514		1860	4105	5965	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47301G>C	2.37:g.179473514C>G	ENSP00000465570:p.Lys15767Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K14840N	ENST00000591111.1	37	c.44520		2	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759662	0.31137	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.53	5.53	0.82687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79131	0.4394	M	0.91663	3.23	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68943	0.947;0.947;0.947;0.961	D	0.83783	0.0226	9	0.87932	D	0	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	8343;8468;8535;15767	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14840;8343;8535;8468;8343	ENSP00000343764:K14840N;ENSP00000434586:K8343N;ENSP00000340554:K8535N;ENSP00000352154:K8468N	ENSP00000340554:K8535N	K	-	3	2	TTN	179181759	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.730000	0.62015	2.596000	0.87737	0.563000	0.77884	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179473514	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179473514	C	G	179473514	3	3	11	1	0	0	0	0	1	0	0	0	16766	912	32	1	55825	1	TTN	2	179473514	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	2484763	179473514	63725859	18	1232										
ZSWIM2	151112	genome.wustl.edu	37	chr2	187693277	187693277	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	caattcatcaaaattacactGaggtatgctaggtaaaattc	6	7	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:187693277G>C	ENST00000295131.2	-	9	1375	c.1336C>G	c.(1336-1338)Cag>Gag	p.Q446E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	446					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATTACACTGAGGTATGCTA	0.308																																																	0													59	65	63					2																	187693277		2201	4297	6498	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1336C>G	2.37:g.187693277G>C	ENSP00000295131:p.Gln446Glu		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.Q446E	ENST00000295131.2	37	c.1336	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	3.091	-0.186952	0.06299	.	.	ENSG00000163012	ENST00000295131	T	0.22945	1.93	5.03	2.03	0.26663	.	0.425675	0.20083	N	0.099609	T	0.17916	0.0430	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17684	-1.0361	10	0.46703	T	0.11	-0.3959	9.2883	0.37771	0.0:0.2854:0.5685:0.146	.	446	Q8NEG5	ZSWM2_HUMAN	E	446	ENSP00000295131:Q446E	ENSP00000295131:Q446E	Q	-	1	0	ZSWIM2	187401522	0.392000	0.25229	0.056000	0.19401	0.128000	0.20619	1.590000	0.36654	1.243000	0.43853	0.591000	0.81541	CAG	ZSWIM2	-	NULL		0.308	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	G	NM_182521		187693277	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	missense	SNP	0.009	C	C	187693277	G	C	187693277	3	2	11	1	0	0	0	0	1	0	0	0	18271	1299	45	1	569	1	ZSWIM2	2	187693277	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	8219763	187693277	55506096	19	1233										
CASP10	843	genome.wustl.edu	37	chr2	202074061	202074061	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gaaaaacctaaactctttttCatccaggcctgccaaggtga	7	11	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:202074061C>T	ENST00000272879.5	+	9	1375	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Silent_p.F354F|CASP10_ENST00000448480.1_Silent_p.F354F|CASP10_ENST00000286186.6_Silent_p.F397F|CASP10_ENST00000313728.7_Silent_p.F330F	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	397					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AACTCTTTTTCATCCAGGCCT	0.522																																																	0													74	69	70					2																	202074061		2203	4300	6503	SO:0001819	synonymous_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1191C>T	2.37:g.202074061C>T			Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Silent	SNP	pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.F397	ENST00000272879.5	37	c.1191	CCDS2338.1	2																																																																																			CASP10	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.522	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	HGNC	protein_coding	OTTHUMT00000256273.1	C	NM_032977		202074061	1	no_errors	ENST00000286186	ensembl	human	known	70_37	silent	SNP	0.959	T	T	202074061	C	T	202074061	2	4	11	1	0	0	0	0	0	0	0	1	2674	825	29	1		1	CASP10	2	202074061	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	14380784	202074061	41125312	20	1234										
USP37	57695	genome.wustl.edu	37	chr2	219321885	219321885	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gaatgaggcagatttcctgtCtggaaaacagaagtgggtat	13	5	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:219321885C>T	ENST00000258399.3	-	24	3056		c.e24-1		USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GATTTCCTGTCTGGAAAACAG	0.368																																																	0													81	74	76					2																	219321885		2203	4300	6503	SO:0001630	splice_region_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2644-1G>A	2.37:g.219321885C>T			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	-	e21-1	ENST00000258399.3	37	c.2644-1	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594073	0.46214	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4426	0.87569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219030129	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.540000	0.82074	2.327000	0.79052	0.655000	0.94253	.	USP37	-	-		0.368	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935	Intron	219321885	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	219321885	C	T	219321885	5	4	11	1	0	0	0	0	0	0	1	0	17099	927	32	1	308	1	USP37	2	219321885	Splice_Site	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	17247824	219321885	23877488	21	1235										
SGPP2	130367	genome.wustl.edu	37	chr2	223423365	223423365	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	attcagaacatcccaccactCaccacctacatgttagtttt	3	14	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:223423365C>G	ENST00000321276.7	+	5	1034	c.948C>G	c.(946-948)ctC>ctG	p.L316L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	316					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TCCCACCACTCACCACCTACA	0.468																																																	0													104	97	99					2																	223423365		2203	4300	6503	SO:0001819	synonymous_variant	130367			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.948C>G	2.37:g.223423365C>G			A3KPB4|Q8N8Q6	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L316	ENST00000321276.7	37	c.948	CCDS2453.1	2																																																																																			SGPP2	-	NULL		0.468	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP2	HGNC	protein_coding	OTTHUMT00000256856.2	C			223423365	1	no_errors	ENST00000321276	ensembl	human	known	70_37	silent	SNP	0.991	G	G	223423365	C	G	223423365	2	3	11	1	0	0	0	0	0	0	0	1	14250	813	29	1		1	SGPP2	2	223423365	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	4101480	223423365	19776008	22	1236										
PDCD6IP	10015	genome.wustl.edu	37	chr3	33863539	33863539	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cagaacagaacctggataatGatgaaggattgaaaatcgct	10	6	0	5			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:33863539G>A	ENST00000307296.3	+	4	804	c.427G>A	c.(427-429)Gat>Aat	p.D143N	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.D143N			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	143	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCTGGATAATGATGAAGGATT	0.363																																																	0													69	67	67					3																	33863539		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.427G>A	3.37:g.33863539G>A	ENSP00000307387:p.Asp143Asn		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.D143N	ENST00000307296.3	37	c.427	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.628673	0.96671	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	T;T;T	0.19250	2.16;2.16;2.16	5.7	5.7	0.88788	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.79108	0.992;0.955;0.969	T	0.50294	-0.8845	10	0.34782	T	0.22	-15.9988	19.8436	0.96701	0.0:0.0:1.0:0.0	.	143;143;143	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	N	143;143;93	ENSP00000307387:D143N;ENSP00000411825:D143N;ENSP00000406693:D93N	ENSP00000307387:D143N	D	+	1	0	PDCD6IP	33838543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.695000	0.91970	0.650000	0.86243	GAT	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.363	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	G			33863539	1	no_errors	ENST00000457054	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33863539	G	A	33863539	3	1	11	1	0	0	0	0	1	0	0	0	11648	1290	45	1	441	1	PDCD6IP	3	33863539	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		33863539	164158891	23	1237										
BAP1	8314	genome.wustl.edu	37	chr3	52437782	52437782	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcttgatggacagaggaattGagaggtccttctgggactct	13	7	3	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:52437782G>C	ENST00000460680.1	-	13	1850	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S442*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S460*(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGAGGAATTGAGAGGTCCTT	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Nonsense(2)	eye(1)|kidney(1)											72	74	73					3																	52437782		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1379C>G	3.37:g.52437782G>C	ENSP00000417132:p.Ser460*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.S460*	ENST00000460680.1	37	c.1379	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910675	0.92107	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	.	0.275715	0.37348	N	0.002126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0195	0.80472	0.0:0.1335:0.8665:0.0	.	.	.	.	X	460;442	.	ENSP00000296288:S442X	S	-	2	0	BAP1	52412822	1.000000	0.71417	0.890000	0.34922	0.933000	0.57130	5.347000	0.65998	2.880000	0.98712	0.655000	0.94253	TCA	BAP1	-	NULL		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52437782	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	0.982	C	C	52437782	G	C	52437782	4	2	11	1	0	0	0	0	0	1	0	0	1312	1294	45	1	830	1	BAP1	3	52437782	Nonsense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	18574243	52437782	145584648	24	1238										
PCNP	57092	genome.wustl.edu	37	chr3	101311589	101311589	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttggaaatgtccatgaccaaGacaattaaatgatgttttga	8	5	0	4			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:101311589G>C	ENST00000265260.3	+	5	650	c.529G>C	c.(529-531)Gac>Cac	p.D177H	PCNP_ENST00000469941.1_Missense_Mutation_p.D54H|PCNP_ENST00000296024.5_3'UTR|PCNP_ENST00000486406.1_3'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	177					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						CCATGACCAAGACAATTAAAT	0.378																																																	0													59	63	61					3																	101311589		2203	4300	6503	SO:0001583	missense	57092				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.529G>C	3.37:g.101311589G>C	ENSP00000265260:p.Asp177His		B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	NULL	p.D177H	ENST00000265260.3	37	c.529	CCDS2942.1	3	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421240	0.42918	.	.	ENSG00000081154	ENST00000265260	.	.	.	5.05	5.05	0.67936	.	0.072860	0.64402	D	0.000020	T	0.39489	0.1080	N	0.22421	0.69	0.80722	D	1	P	0.36249	0.545	B	0.36244	0.22	T	0.43909	-0.9362	9	0.72032	D	0.01	.	11.9116	0.52743	0.0803:0.0:0.9197:0.0	.	177	Q8WW12	PCNP_HUMAN	H	177	.	ENSP00000265260:D177H	D	+	1	0	PCNP	102794279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.077000	0.50089	2.339000	0.79563	0.586000	0.80456	GAC	PCNP	-	NULL		0.378	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2	G	NM_020357		101311589	1	no_errors	ENST00000265260	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101311589	G	C	101311589	3	2	11	1	0	0	0	0	1	0	0	0	11613	942	33	1	547	1	PCNP	3	101311589	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	48873807	101311589	96710841	25	1239										
CLDN18	51208	genome.wustl.edu	37	chr3	137729133	137729133	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctggggctggccggctgcatCgcggccaccgggatggacat	17	13	0	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:137729133C>T	ENST00000183605.5	+	1	292	c.66C>T	c.(64-66)atC>atT	p.I22I	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	22					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CCGGCTGCATCGCGGCCACCG	0.667																																																	0													42	41	41					3																	137729133		2203	4300	6503	SO:0001819	synonymous_variant	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.66C>T	3.37:g.137729133C>T			A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.I22	ENST00000183605.5	37	c.66	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18		0.667	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	C	NM_001002026		137729133	1	no_errors	ENST00000183605	ensembl	human	known	70_37	silent	SNP	0.042	T	T	137729133	C	T	137729133	2	4	11	1	0	0	0	0	0	0	0	1	3484	874	31	1		1	CLDN18	3	137729133	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	36417544	137729133	60293297	26	1240										
P2RY13	53829	genome.wustl.edu	37	chr3	151046485	151046485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tggtctcataaaatatcaccGaagaaaaacgacacacaaaa	5	9	2	1	rs575804697		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:151046485G>A	ENST00000325602.5	-	2	378	c.359C>T	c.(358-360)tCg>tTg	p.S120L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	120					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAATATCACCGAAGAAAAACG	0.443																																																	0													71	71	71					3																	151046485		2203	4300	6503	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.359C>T	3.37:g.151046485G>A	ENSP00000320376:p.Ser120Leu		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.S120L	ENST00000325602.5	37	c.359	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546608	0.65198	.	.	ENSG00000181631	ENST00000325602	T	0.35605	1.3	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.171153	0.51477	D	0.000100	T	0.53981	0.1830	M	0.68952	2.095	0.23215	N	0.998106	P	0.48998	0.918	P	0.53689	0.732	T	0.50808	-0.8784	10	0.59425	D	0.04	-9.7569	19.5537	0.95331	0.0:0.0:1.0:0.0	.	120	Q9BPV8	P2Y13_HUMAN	L	120	ENSP00000320376:S120L	ENSP00000320376:S120L	S	-	2	0	P2RY13	152529175	1.000000	0.71417	0.007000	0.13788	0.177000	0.22998	7.322000	0.79097	2.614000	0.88457	0.557000	0.71058	TCG	P2RY13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.443	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	G	NM_023914		151046485	-1	no_errors	ENST00000325602	ensembl	human	known	70_37	missense	SNP	0.321	A	A	151046485	G	A	151046485	3	1	11	1	0	0	0	0	1	0	0	0	11374	1059	37	1	709	1	P2RY13	3	151046485	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	13317352	151046485	46975945	27	1241										
SLC33A1	9197	genome.wustl.edu	37	chr3	155571018	155571018	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cttaaatacactacctgaaaGagtaacgattcctctgggtt	7	9	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:155571018G>C	ENST00000392845.3	-	1	1149	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.L257V|SLC33A1_ENST00000460729.1_5'UTR			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	257					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTACCTGAAAGAGTAACGATT	0.383																																																	0													48	52	51					3																	155571018		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.769C>G	3.37:g.155571018G>C	ENSP00000376587:p.Leu257Val		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.L257V	ENST00000392845.3	37	c.769	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086448	0.76642	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.81078	-1.45;-1.45	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);	0.181633	0.47852	D	0.000220	D	0.89068	0.6610	M	0.77406	2.37	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.90228	0.4277	10	0.72032	D	0.01	-16.6016	19.0305	0.92955	0.0:0.0:1.0:0.0	.	257	O00400	ACATN_HUMAN	V	257	ENSP00000376587:L257V;ENSP00000352456:L257V	ENSP00000352456:L257V	L	-	1	0	SLC33A1	157053712	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.170000	0.64990	2.556000	0.86216	0.555000	0.69702	CTT	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1		0.383	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	G	NM_004733		155571018	-1	no_errors	ENST00000359479	ensembl	human	known	70_37	missense	SNP	0.999	C	C	155571018	G	C	155571018	3	2	11	1	0	0	0	0	1	0	0	0	14596	942	33	1	904	1	SLC33A1	3	155571018	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	4524533	155571018	42451412	28	1242										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	11	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	23365064	178936082	19086348	29	1243										
DRD5	1816	genome.wustl.edu	37	chr4	9784379	9784379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atccccgttgccatcatgatCgtgacctacacgcgcatcta	7	15	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:9784379C>T	ENST00000304374.2	+	1	1122	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	242					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCATCATGATCGTGACCTACA	0.602																																																	0													64	55	58					4																	9784379		2203	4300	6503	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.726C>T	4.37:g.9784379C>T			B2R9S3|Q8NEQ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.I242	ENST00000304374.2	37	c.726	CCDS3405.1	4																																																																																			DRD5	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.602	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	C			9784379	1	no_errors	ENST00000304374	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9784379	C	T	9784379	2	4	11	1	0	0	0	0	0	0	0	1	4770	874	31	1		1	DRD5	4	9784379	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		9784379	181369897	30	1244										
APBB2	323	genome.wustl.edu	37	chr4	40825700	40825700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acagtggcatcagccacgttCatgttcactgacagccagtc	9	13	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:40825700C>G	ENST00000295974.8	-	16	2519	c.1890G>C	c.(1888-1890)atG>atC	p.M630I	APBB2_ENST00000508593.1_Missense_Mutation_p.M631I|APBB2_ENST00000513140.1_Missense_Mutation_p.M608I|APBB2_ENST00000543538.1_Missense_Mutation_p.M82I|APBB2_ENST00000502841.1_Missense_Mutation_p.M82I|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.M82I|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.M609I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	630	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAGCCACGTTCATGTTCACTG	0.418																																					Ovarian(3;20 75 16686 49997)												0													120	122	121					4																	40825700		1981	4159	6140	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1890G>C	4.37:g.40825700C>G	ENSP00000295974:p.Met630Ile		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.M630I	ENST00000295974.8	37	c.1890	CCDS54761.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.750|8.750	0.920953|0.920953	0.17982|0.17982	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	.|T;T;T;T;T;T;T;T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.088680	.|0.85682	.|D	.|0.000000	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.16368|0.16368	0.405|0.405	0.47094|0.47094	D|D	0.99931|0.99931	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.003;0.004	T|T	0.05386|0.05386	-1.0888|-1.0888	5|10	.|0.25106	.|T	.|0.35	-29.8198|-29.8198	14.9339|14.9339	0.70938|0.70938	0.143:0.857:0.0:0.0|0.143:0.857:0.0:0.0	.|.	.|631;608;630	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	Q|I	600|630;629;82;608;631;82;609;82;144;82;82;82	.|ENSP00000295974:M630I;ENSP00000439357:M82I;ENSP00000426018:M608I;ENSP00000427211:M631I;ENSP00000425802:M82I;ENSP00000421539:M609I;ENSP00000423765:M82I;ENSP00000426429:M144I;ENSP00000427107:M82I;ENSP00000421751:M82I;ENSP00000421301:M82I	.|ENSP00000295974:M630I	E|M	-|-	1|3	0|0	APBB2|APBB2	40520457|40520457	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.014000|0.014000	0.08584|0.08584	3.873000|3.873000	0.56093|0.56093	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAA|ATG	APBB2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.418	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	C	NM_173075		40825700	-1	no_errors	ENST00000295974	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40825700	C	G	40825700	3	3	11	1	0	0	0	0	1	0	0	0	761	826	29	1	398	1	APBB2	4	40825700	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	31041321	40825700	150328576	31	1245										
ZAR1	326340	genome.wustl.edu	37	chr4	48492817	48492817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cagcccccagaacggcgcccCgcggcccatgcgcttcccgc	11	22	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:48492817C>T	ENST00000327939.4	+	1	549	c.509C>T	c.(508-510)cCg>cTg	p.P170L		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	170					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						AACGGCGCCCCGCGGCCCATG	0.786																																																	0													5	5	5					4																	48492817		1453	3073	4526	SO:0001583	missense	326340			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 6"	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.509C>T	4.37:g.48492817C>T	ENSP00000329803:p.Pro170Leu			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.P170L	ENST00000327939.4	37	c.509	CCDS3483.1	4	.	.	.	.	.	.	.	.	.	.	C	4.731	0.135920	0.09032	.	.	ENSG00000182223	ENST00000327939	.	.	.	3.21	0.27	0.15635	.	1.237410	0.05927	N	0.634533	T	0.19208	0.0461	N	0.24115	0.695	0.09310	N	1	B	0.32071	0.355	B	0.15484	0.013	T	0.13045	-1.0524	9	0.30078	T	0.28	0.2968	3.4863	0.07620	0.1719:0.5594:0.167:0.1017	.	170	Q86SH2	ZAR1_HUMAN	L	170	.	ENSP00000329803:P170L	P	+	2	0	ZAR1	48187574	0.191000	0.23288	0.002000	0.10522	0.007000	0.05969	-0.044000	0.12023	-0.443000	0.07180	-0.448000	0.05591	CCG	ZAR1	-	NULL		0.786	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1	HGNC	protein_coding	OTTHUMT00000219927.3	C			48492817	1	no_errors	ENST00000327939	ensembl	human	known	70_37	missense	SNP	0.018	T	T	48492817	C	T	48492817	3	4	11	1	0	0	0	0	1	0	0	0	17546	652	23	2	511	2	ZAR1	4	48492817	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	7667117	48492817	142661459	32	1246										
AASDH	132949	genome.wustl.edu	37	chr4	57244534	57244534	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atttagcatcaagttcacctCagtatttttccagtgaagtc	6	9	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:57244534C>T	ENST00000205214.6	-	4	628	c.448G>A	c.(448-450)Gag>Aag	p.E150K	AASDH_ENST00000502617.1_Missense_Mutation_p.E150K|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.E150K|AASDH_ENST00000513376.1_Missense_Mutation_p.E50K|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000510762.1_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	150					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAGTTCACCTCAGTATTTTTC	0.303																																																	0													85	82	83					4																	57244534		2203	4298	6501	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.448G>A	4.37:g.57244534C>T	ENSP00000205214:p.Glu150Lys		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.E150K	ENST00000205214.6	37	c.448	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178223	0.21787	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000502617	T;T;T;T	0.61392	1.0;0.11;1.0;1.0	5.85	4.11	0.48088	AMP-dependent synthetase/ligase (1);	1.099760	0.06849	N	0.796992	T	0.51024	0.1650	L	0.36672	1.1	0.09310	N	1	B;B;P	0.34864	0.274;0.274;0.473	B;B;B	0.34931	0.072;0.112;0.192	T	0.45293	-0.9271	10	0.62326	D	0.03	0.0964	10.0415	0.42162	0.0:0.6522:0.2781:0.0697	.	150;150;150	Q4L235-4;Q4L235-3;Q4L235	.;.;ACSF4_HUMAN	K	150;50;150;150	ENSP00000205214:E150K;ENSP00000423760:E50K;ENSP00000409656:E150K;ENSP00000421171:E150K	ENSP00000205214:E150K	E	-	1	0	AASDH	56939291	0.091000	0.21658	0.001000	0.08648	0.199000	0.23934	2.310000	0.43708	0.785000	0.33685	0.655000	0.94253	GAG	AASDH	-	pfam_AMP-dep_Synth/Lig		0.303	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	C	NM_181806		57244534	-1	no_errors	ENST00000205214	ensembl	human	known	70_37	missense	SNP	0.002	T	T	57244534	C	T	57244534	3	4	11	1	0	0	0	0	1	0	0	0	22	835	29	1	2896	1	AASDH	4	57244534	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	8751717	57244534	133909742	33	1247										
ATOH1	474	genome.wustl.edu	37	chr4	94750668	94750668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aacgacaagaagctgtccaaAtatgagaccctgcagatggc	10	10	0	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:94750668A>G	ENST00000306011.3	+	1	627	c.591A>G	c.(589-591)aaA>aaG	p.K197K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	197	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGCTGTCCAAATATGAGACCC	0.597																																																	0													54	56	55					4																	94750668		2203	4300	6503	SO:0001819	synonymous_variant	474			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.591A>G	4.37:g.94750668A>G			Q14CT9	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K197	ENST00000306011.3	37	c.591	CCDS3638.1	4																																																																																			ATOH1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.597	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	HGNC	protein_coding	OTTHUMT00000253585.1	A	NM_005172		94750668	1	no_errors	ENST00000306011	ensembl	human	known	70_37	silent	SNP	1.000	G	G	94750668	A	G	94750668	2	3	11	1	0	0	0	0	0	0	0	1	1113	98	4	5		5	ATOH1	4	94750668	Silent	SNP	A	TCGA-C5-A1BM-01A-11D-A13W-08	37506134	94750668	96403608	34	1248										
HADH	3033	genome.wustl.edu	37	chr4	108911144	108911144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtcctcctcgtccaccgcctCggcctcggccaagaagataa	9	17	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:108911144C>T	ENST00000309522.3	+	1	205	c.56C>T	c.(55-57)tCg>tTg	p.S19L	HADH_ENST00000403312.1_Missense_Mutation_p.S78L|HADH_ENST00000505878.1_5'UTR|HADH_ENST00000603302.1_Missense_Mutation_p.S19L	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	0					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TCCACCGCCTCGGCCTCGGCC	0.677																																																	0													47	36	40					4																	108911144		2203	4300	6503	SO:0001583	missense	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.56C>T	4.37:g.108911144C>T	ENSP00000312288:p.Ser19Leu		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like	p.S19L	ENST00000309522.3	37	c.56	CCDS3678.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003498	0.74932	.	.	ENSG00000138796	ENST00000403312;ENST00000309522	T	0.71461	-0.57	4.73	4.73	0.59995	.	0.590445	0.18104	N	0.151567	T	0.48926	0.1527	N	0.08118	0	0.80722	D	1	P;B	0.37398	0.593;0.147	B;B	0.28465	0.09;0.015	T	0.60031	-0.7342	10	0.72032	D	0.01	-2.1483	14.5568	0.68106	0.0:1.0:0.0:0.0	.	78;19	Q16836-2;Q16836	.;HCDH_HUMAN	L	19	ENSP00000312288:S19L	ENSP00000312288:S19L	S	+	2	0	HADH	109130593	0.992000	0.36948	0.901000	0.35422	0.978000	0.69477	3.574000	0.53863	2.450000	0.82876	0.591000	0.81541	TCG	HADH	-	NULL		0.677	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADH	HGNC	protein_coding	OTTHUMT00000254750.2	C	NM_005327		108911144	1	no_errors	ENST00000403312	ensembl	human	known	70_37	missense	SNP	0.997	T	T	108911144	C	T	108911144	3	4	11	1	0	0	0	0	1	0	0	0	6962	893	31	1	58	1	HADH	4	108911144	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	14160476	108911144	82243132	35	1249										
NAA15	80155	genome.wustl.edu	37	chr4	140264026	140264026	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcgacctgcgcagagagcatCatggattggttatgctattg	12	8	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:140264026C>A	ENST00000296543.5	+	5	772	c.449C>A	c.(448-450)tCa>tAa	p.S150*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.S150*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	150					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAGAGAGCATCATGGATTGGT	0.343																																																	0													135	125	128					4																	140264026		1858	4119	5977	SO:0001587	stop_gained	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.449C>A	4.37:g.140264026C>A	ENSP00000296543:p.Ser150*		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S150*	ENST00000296543.5	37	c.449	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.861977	0.98531	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.25	5.25	0.73442	.	0.072136	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-10.1605	19.4069	0.94651	0.0:1.0:0.0:0.0	.	.	.	.	X	150;24;150	.	ENSP00000296543:S150X	S	+	2	0	NAA15	140483476	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.177000	0.77650	2.894000	0.99253	0.591000	0.81541	TCA	NAA15	-	pirsf_NatA_aux_su,pfscan_TPR-contain_dom		0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	C	NM_057175		140264026	1	no_errors	ENST00000296543	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	140264026	C	A	140264026	4	1	11	1	0	0	0	0	0	1	0	0	10141	838	29	3	467	3	NAA15	4	140264026	Nonsense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	31352882	140264026	50890250	36	1250										
SLC6A19	340024	genome.wustl.edu	37	chr5	1216712	1216712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcggtgattgtgtccatcatCaacggcttcacatcggtgta	10	10	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:1216712C>G	ENST00000304460.10	+	7	983	c.927C>G	c.(925-927)atC>atG	p.I309M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	309					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTCCATCATCAACGGCTTCA	0.587																																																	0													309	220	250					5																	1216712		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.927C>G	5.37:g.1216712C>G	ENSP00000305302:p.Ile309Met		A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.I309M	ENST00000304460.10	37	c.927	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494850	0.44352	.	.	ENSG00000174358	ENST00000304460	T	0.76839	-1.05	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	M	0.80746	2.51	0.53688	D	0.99997	D	0.57571	0.98	D	0.65573	0.936	D	0.86539	0.1827	10	0.72032	D	0.01	.	8.1123	0.30922	0.1562:0.7603:0.0:0.0835	.	309	Q695T7	S6A19_HUMAN	M	309	ENSP00000305302:I309M	ENSP00000305302:I309M	I	+	3	3	SLC6A19	1269712	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	2.296000	0.43584	2.112000	0.64535	0.491000	0.48974	ATC	SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.587	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	C	XM_291120		1216712	1	no_errors	ENST00000304460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1216712	C	G	1216712	3	3	11	1	0	0	0	0	1	0	0	0	14712	816	29	1	953	1	SLC6A19	5	1216712	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		1216712	179698548	37	1251										
ITGA1	3672	genome.wustl.edu	37	chr5	52206174	52206174	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gacatcgtgataggagctccGctggaagatgatcacggggg	16	8	1	3	rs377090654		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:52206174G>C	ENST00000282588.6	+	14	2240	c.1782G>C	c.(1780-1782)ccG>ccC	p.P594P		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	594					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAGGAGCTCCGCTGGAAGATG	0.428																																																	0													89	89	89					5																	52206174		2203	4300	6503	SO:0001819	synonymous_variant	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1782G>C	5.37:g.52206174G>C			B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P594	ENST00000282588.6	37	c.1782	CCDS3955.1	5																																																																																			ITGA1	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52206174	1	no_errors	ENST00000282588	ensembl	human	known	70_37	silent	SNP	0.000	C	C	52206174	G	C	52206174	2	2	11	1	0	0	0	0	0	0	0	1	7892	1074	38	2		2	ITGA1	5	52206174	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	50989462	52206174	128709086	38	1252										
MAST4	375449	genome.wustl.edu	37	chr5	66456416	66456416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ccaagaagaaagaaagtctcGaaaggttagtaaaatcagta	9	5	2	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:66456416G>A	ENST00000403625.2	+	27	4076	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	MAST4_ENST00000261569.7_Missense_Mutation_p.E1067K|MAST4_ENST00000404260.3_Missense_Mutation_p.E1264K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1072K|MAST4_ENST00000405643.1_Missense_Mutation_p.E1082K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1264						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAAGTCTCGAAAGGTTAGT	0.363																																																	0													84	86	86					5																	66456416		1847	4087	5934	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3781G>A	5.37:g.66456416G>A	ENSP00000385727:p.Glu1261Lys		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E1264K	ENST00000403625.2	37	c.3790	CCDS54861.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.690597|5.690597	0.96793|0.96793	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.65178|.	-0.12;-0.12;-0.14;-0.14;-0.11|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52451|0.52451	0.1735|0.1735	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.69078|.	0.981;0.997|.	P;P|.	0.59643|.	0.457;0.861|.	T|T	0.45425|0.45425	-0.9262|-0.9262	10|5	0.39692|.	T|.	0.17|.	-24.6645|-24.6645	20.0784|20.0784	0.97758|0.97758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1264;1072|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	K|Q	1264;1261;1072;1082;1082;1067|317	ENSP00000385048:E1264K;ENSP00000385727:E1261K;ENSP00000384313:E1072K;ENSP00000384099:E1082K;ENSP00000261569:E1067K|.	ENSP00000261569:E1067K|.	E|R	+|+	1|2	0|0	MAST4|MAST4	66492172|66492172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.869000|9.869000	0.99810|0.99810	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAA|CGA	MAST4	-	NULL		0.363	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66456416	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66456416	G	A	66456416	3	1	11	1	0	0	0	0	1	0	0	0	9350	1059	37	1	4017	1	MAST4	5	66456416	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	14250242	66456416	114458844	39	1253										
AQPEP	206338	genome.wustl.edu	37	chr5	115351427	115351427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggccggtatgtcgcaaaagaCttcttagtcaacaactggca	10	10	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:115351427C>T	ENST00000357872.4	+	18	2845	c.2721C>T	c.(2719-2721)gaC>gaT	p.D907D	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		907						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TCGCAAAAGACTTCTTAGTCA	0.418																																																	0													79	76	77					5																	115351427		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2721C>T	5.37:g.115351427C>T			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D907	ENST00000357872.4	37	c.2721	CCDS4124.1	5																																																																																			AQPEP	-	NULL		0.418	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115351427	1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	0.997	T	T	115351427	C	T	115351427	2	4	11	1	0	0	0	0	0	0	0	1	834	564	20	4		4	AQPEP	5	115351427	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	48895011	115351427	65563833	40	1254										
FBXW11	23291	genome.wustl.edu	37	chr5	171299926	171299926	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	accaggcgatccctgtactgGagacaggcaatgccccgctt	11	14	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:171299926G>A	ENST00000265094.5	-	9	1364	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	FBXW11_ENST00000425623.2_Silent_p.L377L|FBXW11_ENST00000393802.2_Silent_p.L375L|FBXW11_ENST00000296933.6_Silent_p.L396L	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	409					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCTGTACTGGAGACAGGCAA	0.453																																																	0													105	92	96					5																	171299926		2203	4300	6503	SO:0001819	synonymous_variant	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1227C>T	5.37:g.171299926G>A			B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L409	ENST00000265094.5	37	c.1227	CCDS34289.1	5																																																																																			FBXW11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1	G	NM_012300		171299926	-1	no_errors	ENST00000265094	ensembl	human	known	70_37	silent	SNP	0.223	A	A	171299926	G	A	171299926	2	1	11	1	0	0	0	0	0	0	0	1	5782	1161	41	1		1	FBXW11	5	171299926	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	55948499	171299926	9615334	41	1255										
HIVEP1	3096	genome.wustl.edu	37	chr6	12125377	12125377	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtgagacctttagaggctttGagttcgagagttaatgaagc	13	5	0	5			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:12125377G>C	ENST00000379388.2	+	4	5681	c.5349G>C	c.(5347-5349)ttG>ttC	p.L1783F	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1783					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TAGAGGCTTTGAGTTCGAGAG	0.443																																																	0													128	123	124					6																	12125377		1864	4103	5967	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5349G>C	6.37:g.12125377G>C	ENSP00000368698:p.Leu1783Phe		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1783F	ENST00000379388.2	37	c.5349	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035751	0.19590	.	.	ENSG00000095951	ENST00000379388	T	0.10860	2.83	5.47	2.15	0.27550	.	1.706460	0.04957	N	0.461407	T	0.09642	0.0237	M	0.68952	2.095	0.09310	N	0.999998	D	0.59357	0.985	P	0.55923	0.787	T	0.14309	-1.0477	9	.	.	.	-1.5225	1.4803	0.02435	0.2663:0.14:0.4494:0.1443	.	1783	P15822	ZEP1_HUMAN	F	1783	ENSP00000368698:L1783F	.	L	+	3	2	HIVEP1	12233363	0.099000	0.21834	0.000000	0.03702	0.002000	0.02628	0.381000	0.20619	0.087000	0.17167	-0.182000	0.12963	TTG	HIVEP1	-	NULL		0.443	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12125377	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.002	C	C	12125377	G	C	12125377	3	2	11	1	0	0	0	0	1	0	0	0	7206	1281	45	1	5359	1	HIVEP1	6	12125377	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		12125377	158989690	42	1256										
DEK	7913	genome.wustl.edu	37	chr6	18236826	18236826	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atctgaactatcctcagactCactttctaaaagtaatataa	3	9	4	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:18236826C>G	ENST00000397239.3	-	9	1351	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	DEK_ENST00000244776.7_Missense_Mutation_p.E268Q	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	302	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TCCTCAGACTCACTTTCTAAA	0.284			T	NUP214	AML																																			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													46	48	47					6																	18236826		2199	4293	6492	SO:0001583	missense	7913			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.904G>C	6.37:g.18236826C>G	ENSP00000380414:p.Glu302Gln		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd	p.E302Q	ENST00000397239.3	37	c.904	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807454	0.90623	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.48522	0.82;0.81	5.74	5.74	0.90152	.	0.275968	0.39475	N	0.001346	T	0.40886	0.1135	M	0.64997	1.995	0.58432	D	0.999996	P;B	0.38440	0.631;0.32	B;B	0.37422	0.249;0.249	T	0.42649	-0.9439	10	0.52906	T	0.07	-9.3649	20.2982	0.98569	0.0:1.0:0.0:0.0	.	268;302	B4DN37;P35659	.;DEK_HUMAN	Q	302;268;78	ENSP00000380414:E302Q;ENSP00000244776:E268Q	ENSP00000244776:E268Q	E	-	1	0	DEK	18344805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.324000	0.59228	2.873000	0.98535	0.563000	0.77884	GAG	DEK	-	NULL		0.284	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	C			18236826	-1	no_errors	ENST00000397239	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18236826	C	G	18236826	3	3	11	1	0	0	0	0	1	0	0	0	4434	835	29	1	235	1	DEK	6	18236826	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	6111449	18236826	152878241	43	1257										
GABBR1	2550	genome.wustl.edu	37	chr6	29599339	29599339	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cgagtcaggccccggtacctGatgcccccttcccagggcgg	13	17	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:29599339G>C	ENST00000377034.4	-	3	458	c.123C>G	c.(121-123)atC>atG	p.I41M	GABBR1_ENST00000376977.3_Missense_Mutation_p.I41M|GABBR1_ENST00000377016.4_Missense_Mutation_p.I41M	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	41	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCCGGTACCTGATGCCCCCTT	0.602																																																	0													72	78	76					6																	29599339		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.123C>G	6.37:g.29599339G>C	ENSP00000366233:p.Ile41Met		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.I41M	ENST00000377034.4	37	c.123	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448218	0.63178	.	.	ENSG00000204681	ENST00000376977;ENST00000377016;ENST00000377034;ENST00000462632;ENST00000476670	T;D;T;T;T	0.89485	-1.25;-2.52;-0.74;1.24;0.33	4.18	3.29	0.37713	Complement control module (1);Sushi/SCR/CCP (1);	0.138613	0.43919	U	0.000511	D	0.85057	0.5610	N	0.19112	0.55	0.39339	D	0.965541	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.83275	0.994;0.984;0.996	D	0.86989	0.2109	10	0.87932	D	0	-4.9334	9.6839	0.40087	0.0:0.0:0.626:0.374	.	41;41;41	Q9UBS5-5;Q9UBS5-3;Q9UBS5	.;.;GABR1_HUMAN	M	41;41;41;41;46	ENSP00000366176:I41M;ENSP00000366215:I41M;ENSP00000366233:I41M;ENSP00000419755:I41M;ENSP00000417332:I46M	ENSP00000366176:I41M	I	-	3	3	GABBR1	29707318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.468000	0.60162	0.859000	0.35456	0.449000	0.29647	ATC	GABBR1	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.602	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29599339	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29599339	G	C	29599339	3	2	11	1	0	0	0	0	1	0	0	0	6173	1280	45	1	2991	1	GABBR1	6	29599339	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	11362513	29599339	141515728	44	1258										
TRIM39	56658	genome.wustl.edu	37	chr6	30297275	30297275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cccgctggtgggaggacctaGagagggacttcccttgtcct	14	12	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:30297275G>C	ENST00000396547.1	+	2	341	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	TRIM39_ENST00000396548.1_Missense_Mutation_p.E61Q|HCG18_ENST00000426882.1_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61Q|TRIM39_ENST00000376659.5_Missense_Mutation_p.E61Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61Q|HCG18_ENST00000413358.2_RNA|TRIM39-RPP21_ENST00000513556.1_5'Flank			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	61					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542																																																	0													160	142	149					6																	30297275		1510	2709	4219	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.181G>C	6.37:g.30297275G>C	ENSP00000379796:p.Glu61Gln		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E61Q	ENST00000396547.1	37	c.181	CCDS34377.1	6	.	.	.	.	.	.	.	.	.	.	G	4.590	0.109669	0.08780	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.15	4.27	0.50696	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000045	T	0.02380	0.0073	N	0.04132	-0.27	0.33481	D	0.587478	P;B	0.45078	0.85;0.012	P;B	0.51742	0.678;0.037	T	0.48139	-0.9061	10	0.12103	T	0.63	.	11.5226	0.50560	0.0:0.1802:0.8198:0.0	.	61;61	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	Q	61	ENSP00000405928:E61Q;ENSP00000394768:E61Q;ENSP00000379800:E61Q;ENSP00000365844:E61Q;ENSP00000439400:E61Q;ENSP00000406019:E61Q;ENSP00000379797:E61Q;ENSP00000365847:E61Q;ENSP00000379796:E61Q	ENSP00000365844:E61Q	E	+	1	0	TRIM39	30405254	0.492000	0.26027	0.998000	0.56505	0.980000	0.70556	1.210000	0.32370	1.364000	0.46038	0.561000	0.74099	GAG	TRIM39	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	G	NM_172016		30297275	1	no_errors	ENST00000376656	ensembl	human	known	70_37	missense	SNP	0.999	C	C	30297275	G	C	30297275	3	2	11	1	0	0	0	0	1	0	0	0	16544	943	33	1	183	1	TRIM39	6	30297275	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	697936	30297275	140817792	45	1259										
PDE1C	5137	genome.wustl.edu	37	chr7	31890315	31890315	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cgtagtcatggatggcagctGagaagattatagcaaagatc	12	6	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:31890315G>C	ENST00000396191.1	-	8	1246	c.791C>G	c.(790-792)tCa>tGa	p.S264*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.S264*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.S264*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.S324*|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.S264*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	264	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GATGGCAGCTGAGAAGATTAT	0.453																																																	0													182	163	170					7																	31890315		2203	4300	6503	SO:0001587	stop_gained	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.791C>G	7.37:g.31890315G>C	ENSP00000379494:p.Ser264*		B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S264*	ENST00000396191.1	37	c.791	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	g	41	8.913370	0.99000	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.91	5.91	0.95273	.	0.053985	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9008	0.96985	0.0:0.0:1.0:0.0	.	.	.	.	X	324;264;264;264;264	.	ENSP00000318105:S264X	S	-	2	0	PDE1C	31856840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.805000	0.96524	0.651000	0.88453	TCA	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.453	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	G			31890315	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	31890315	G	C	31890315	4	2	11	1	0	0	0	0	0	1	0	0	11659	1294	45	1	1153	1	PDE1C	7	31890315	Nonsense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		31890315	127248348	46	1260										
EGFR	1956	genome.wustl.edu	37	chr7	55249069	55249069	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acctccaccgtgcagctcatCacgcagctcatgcccttcgg	8	18	3	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:55249069C>G	ENST00000275493.2	+	20	2544	c.2367C>G	c.(2365-2367)atC>atG	p.I789M	EGFR_ENST00000455089.1_Missense_Mutation_p.I744M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.I736M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCAGCTCATCACGCAGCTCA	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													106	91	96					7																	55249069		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2367C>G	7.37:g.55249069C>G	ENSP00000275493:p.Ile789Met		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I789M	ENST00000275493.2	37	c.2367	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187545	0.57909	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.86366	-2.11;-2.11;-2.11	5.92	2.79	0.32731	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.136175	0.64402	D	0.000003	D	0.91047	0.7183	M	0.69185	2.1	0.45852	D	0.998716	P;P	0.46142	0.56;0.873	P;P	0.62382	0.652;0.901	D	0.90197	0.4254	10	0.87932	D	0	.	11.3366	0.49507	0.1133:0.7464:0.0:0.1403	.	744;789	Q504U8;P00533	.;EGFR_HUMAN	M	744;659;789;736	ENSP00000415559:I744M;ENSP00000275493:I789M;ENSP00000395243:I736M	ENSP00000275493:I789M	I	+	3	3	EGFR	55216563	0.996000	0.38824	0.959000	0.39883	0.946000	0.59487	0.460000	0.21924	0.398000	0.25338	-0.797000	0.03246	ATC	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,pfscan_Prot_kinase_cat_dom		0.607	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55249069	1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55249069	C	G	55249069	3	3	11	1	0	0	0	0	1	0	0	0	4977	816	29	1	2709	1	EGFR	7	55249069	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	23358754	55249069	103889594	47	1261										
EGFR	1956	genome.wustl.edu	37	chr7	55249134	55249134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acacaaagacaatattggctCccagtacctgctcaactggt	7	12	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:55249134C>G	ENST00000275493.2	+	20	2609	c.2432C>G	c.(2431-2433)tCc>tGc	p.S811C	EGFR_ENST00000455089.1_Missense_Mutation_p.S766C|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.S758C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AATATTGGCTCCCAGTACCTG	0.572		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													89	78	82					7																	55249134		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2432C>G	7.37:g.55249134C>G	ENSP00000275493:p.Ser811Cys		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S811C	ENST00000275493.2	37	c.2432	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016002	0.93404	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62364	0.03;0.03;0.03	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.937;1.0	T	0.79472	-0.1789	10	0.72032	D	0.01	.	18.8719	0.92319	0.0:1.0:0.0:0.0	.	766;811	Q504U8;P00533	.;EGFR_HUMAN	C	766;681;811;758	ENSP00000415559:S766C;ENSP00000275493:S811C;ENSP00000395243:S758C	ENSP00000275493:S811C	S	+	2	0	EGFR	55216628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.788000	0.85771	2.795000	0.96236	0.655000	0.94253	TCC	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,pfscan_Prot_kinase_cat_dom		0.572	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55249134	1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55249134	C	G	55249134	3	3	11	1	0	0	0	0	1	0	0	0	4977	855	30	1	2774	1	EGFR	7	55249134	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	65	55249134	103889529	48	1262										
SEMA3D	223117	genome.wustl.edu	37	chr7	84751142	84751142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atggtcatgcttagcatcatCaaagcaggaaaaaggtgaaa	10	6	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:84751142C>T	ENST00000284136.6	-	1	109	c.66G>A	c.(64-66)ttG>ttA	p.L22L	SEMA3D_ENST00000444867.1_Silent_p.L22L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	22					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTAGCATCATCAAAGCAGGAA	0.343																																					Ovarian(63;442 1191 17318 29975 31528)												0													110	107	108					7																	84751142		2203	4300	6503	SO:0001819	synonymous_variant	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.66G>A	7.37:g.84751142C>T			A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L22	ENST00000284136.6	37	c.66	CCDS34676.1	7																																																																																			SEMA3D	-	NULL		0.343	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	C	NM_152754		84751142	-1	no_errors	ENST00000284136	ensembl	human	known	70_37	silent	SNP	0.021	T	T	84751142	C	T	84751142	2	4	11	1	0	0	0	0	0	0	0	1	14057	825	29	1		1	SEMA3D	7	84751142	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	29502008	84751142	74387521	49	1263										
CPSF4	10898	genome.wustl.edu	37	chr7	99051700	99051700	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcatcggggtcatgcagagtCaaaacagcagcgcgggcaac	13	11	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:99051700C>T	ENST00000292476.5	+	7	692	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Nonsense_Mutation_p.Q170*|CPSF4_ENST00000436336.2_Nonsense_Mutation_p.Q203*|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Nonsense_Mutation_p.Q150*|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	228					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATGCAGAGTCAAAACAGCAG	0.592																																																	0													101	114	110					7																	99051700		2203	4300	6503	SO:0001587	stop_gained	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.682C>T	7.37:g.99051700C>T	ENSP00000292476:p.Gln228*		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q228*	ENST00000292476.5	37	c.682	CCDS5664.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.25|19.25	3.790727|3.790727	0.70452|0.70452	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580|ENST00000440514	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.100076|.	0.64402|.	D|.	0.000001|.	.|T	.|0.81795	.|0.4898	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.82619	.|-0.0368	.|4	0.06099|0.59425	T|D	0.92|0.04	-10.583|-10.583	19.7534|19.7534	0.96277|0.96277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	203;170;228;150|109	.|.	ENSP00000292476:Q228X|ENSP00000415188:S109L	Q|S	+|+	1|2	0|0	CPSF4|CPSF4	98889636|98889636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.379000|5.379000	0.66196|0.66196	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	CAA|TCA	CPSF4	-	superfamily_Znf_CCHC		0.592	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	C			99051700	1	no_errors	ENST00000292476	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	99051700	C	T	99051700	4	4	11	1	0	0	0	0	0	1	0	0	3833	827	29	1	708	1	CPSF4	7	99051700	Nonsense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	14300558	99051700	60086963	50	1264										
CUX1	1523	genome.wustl.edu	37	chr7	101844749	101844749	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gaggcccagcaggctgccctCgaccctgccttaaagcaggc	12	16	0	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:101844749C>T	ENST00000292535.7	+	18	2210	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000360264.3_Silent_p.L735L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.L702L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.L668L|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.L622L|CUX1_ENST00000556210.1_Silent_p.L566L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	724					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGCTGCCCTCGACCCTGCCT	0.652																																																	0													107	107	107					7																	101844749		2203	4300	6503	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2172C>T	7.37:g.101844749C>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L735	ENST00000292535.7	37	c.2205	CCDS5721.1	7																																																																																			CUX1	-	NULL		0.652	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101844749	1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	0.666	T	T	101844749	C	T	101844749	2	4	11	1	0	0	0	0	0	0	0	1	4069	871	31	1		1	CUX1	7	101844749	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	2793049	101844749	57293914	51	1265										
EPHB6	2051	genome.wustl.edu	37	chr7	142563735	142563735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtcctccatcggctccccagGagctttggtttgaggtgcaa	12	12	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:142563735G>C	ENST00000392957.2	+	9	1910	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.E98Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.E375Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	375	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCTCCCCAGGAGCTTTGGTT	0.632																																																	0													22	24	23					7																	142563735		2202	4299	6501	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1123G>C	7.37:g.142563735G>C	ENSP00000376684:p.Glu375Gln		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E375Q	ENST00000392957.2	37	c.1123	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281841	0.59758	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.56941	0.43;0.43;0.43	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168274	0.28262	N	0.015987	T	0.39517	0.1081	N	0.03608	-0.345	0.33194	D	0.551235	P	0.43938	0.822	P	0.48952	0.596	T	0.58544	-0.7618	10	0.66056	D	0.02	.	13.0241	0.58804	0.0:0.1619:0.8381:0.0	.	375	O15197	EPHB6_HUMAN	Q	375;375;98	ENSP00000376684:E375Q;ENSP00000410789:E375Q;ENSP00000409061:E98Q	ENSP00000376684:E375Q	E	+	1	0	EPHB6	142273857	0.998000	0.40836	0.993000	0.49108	0.581000	0.36288	3.051000	0.49885	2.289000	0.77006	0.462000	0.41574	GAG	EPHB6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G			142563735	1	no_errors	ENST00000392957	ensembl	human	known	70_37	missense	SNP	0.996	C	C	142563735	G	C	142563735	3	2	11	1	0	0	0	0	1	0	0	0	5190	1175	41	1	1141	1	EPHB6	7	142563735	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	40718986	142563735	16574928	52	1266										
CSGALNACT1	55790	genome.wustl.edu	37	chr8	19363168	19363168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctcctcccactcctgaaggaCggcctggtacccctccttcc	7	20	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:19363168C>T	ENST00000454498.2	-	4	1191	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.V60I|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.V60I|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.V60I|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.V60I	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	60					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCCTGAAGGACGGCCTGGTAC	0.632																																																	0													77	65	69					8																	19363168		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.178G>A	8.37:g.19363168C>T	ENSP00000411816:p.Val60Ile		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.V60I	ENST00000454498.2	37	c.178	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	9.812	1.183345	0.21870	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.66	1.82	0.25136	.	0.537923	0.20740	N	0.086545	T	0.10078	0.0247	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28964	-1.0027	10	0.20519	T	0.43	-12.1913	5.735	0.18061	0.1441:0.6113:0.0:0.2446	.	60	Q8TDX6	CGAT1_HUMAN	I	60	ENSP00000411816:V60I;ENSP00000330805:V60I;ENSP00000310891:V60I;ENSP00000429809:V60I;ENSP00000442155:V60I	ENSP00000310891:V60I	V	-	1	0	CSGALNACT1	19407448	0.745000	0.28261	0.001000	0.08648	0.955000	0.61496	2.749000	0.47492	0.758000	0.33059	-0.127000	0.14921	GTC	CSGALNACT1	-	NULL		0.632	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	C	NM_018371		19363168	-1	no_errors	ENST00000311540	ensembl	human	known	70_37	missense	SNP	0.001	T	T	19363168	C	T	19363168	3	4	11	1	0	0	0	0	1	0	0	0	3943	536	19	2	1448	2	CSGALNACT1	8	19363168	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		19363168	127000854	53	1267										
HGSNAT	138050	genome.wustl.edu	37	chr8	43025773	43025773	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	accctctcgatggtgatgttCagccagcaacgtggcgtcta	11	12	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:43025773C>T	ENST00000458501.2	+	7	763	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	HGSNAT_ENST00000379644.4_Nonsense_Mutation_p.Q227*			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	255					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGTGATGTTCAGCCAGCAAC	0.562																																																	0													48	49	49					8																	43025773		2035	4177	6212	SO:0001587	stop_gained	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.763C>T	8.37:g.43025773C>T	ENSP00000389524:p.Gln255*		B4E2V0	Nonsense_Mutation	SNP	pfam_DUF1624	p.Q255*	ENST00000458501.2	37	c.763		8	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132746	0.56828	.	.	ENSG00000165102	ENST00000458501;ENST00000379644	.	.	.	5.44	5.44	0.79542	.	1.080460	0.07029	N	0.828021	.	.	.	.	.	.	0.36091	D	0.843453	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-3.0802	10.2759	0.43510	0.0:0.9105:0.0:0.0895	.	.	.	.	X	255;227	.	ENSP00000368965:Q227X	Q	+	1	0	HGSNAT	43144930	0.006000	0.16342	0.011000	0.14972	0.019000	0.09904	1.711000	0.37930	2.561000	0.86390	0.650000	0.86243	CAG	HGSNAT	-	NULL		0.562	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		C	XM_372038		43025773	1	no_errors	ENST00000458501	ensembl	human	known	70_37	nonsense	SNP	0.031	T	T	43025773	C	T	43025773	4	4	11	1	0	0	0	0	0	1	0	0	7108	827	29	1	705	1	HGSNAT	8	43025773	Nonsense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	23662605	43025773	103338249	54	1268										
KCNB2	9312	genome.wustl.edu	37	chr8	73480393	73480393	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cctgctgccaggccagatatCatcaaaaaaaagaacaaatg	7	10	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:73480393C>T	ENST00000523207.1	+	2	1012	c.424C>T	c.(424-426)Cat>Tat	p.H142Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	142					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGCCAGATATCATCAAAAAAA	0.448																																																	0													106	111	109					8																	73480393		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.424C>T	8.37:g.73480393C>T	ENSP00000430846:p.His142Tyr		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.H142Y	ENST00000523207.1	37	c.424	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425167	0.83667	.	.	ENSG00000182674	ENST00000523207	D	0.96992	-4.2	6.07	6.07	0.98685	BTB/POZ-like (1);BTB/POZ fold (2);	0.329532	0.17958	U	0.156263	D	0.96300	0.8793	L	0.48260	1.515	0.80722	D	1	P	0.34462	0.454	B	0.43916	0.436	D	0.95305	0.8407	10	0.87932	D	0	.	20.2697	0.98465	0.0:1.0:0.0:0.0	.	142	Q92953	KCNB2_HUMAN	Y	142	ENSP00000430846:H142Y	ENSP00000430846:H142Y	H	+	1	0	KCNB2	73642947	1.000000	0.71417	0.993000	0.49108	0.953000	0.61014	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CAT	KCNB2	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv2		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	C	NM_004770		73480393	1	no_errors	ENST00000523207	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73480393	C	T	73480393	3	4	11	1	0	0	0	0	1	0	0	0	8033	826	29	1	426	1	KCNB2	8	73480393	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	30454620	73480393	72883629	55	1269										
COL22A1	169044	genome.wustl.edu	37	chr8	139629165	139629165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gcgcccacttacccggggacCgggtgcaccagaatcgcctg	13	16	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:139629165C>T	ENST00000303045.6	-	54	4308	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587										HNSCC(7;0.00092)																																							0													67	69	68					8																	139629165		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3862G>A	8.37:g.139629165C>T	ENSP00000303153:p.Gly1288Ser		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1288S	ENST00000303045.6	37	c.3862	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252523	0.39797	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99329	-5.75;-5.75	4.35	4.35	0.52113	.	0.281024	0.24791	N	0.035575	D	0.99704	0.9887	H	0.99634	4.67	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97160	0.9837	10	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1268;1288	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1288;1268;981	ENSP00000303153:G1288S;ENSP00000387655:G1268S	ENSP00000303153:G1288S	G	-	1	0	COL22A1	139698347	0.997000	0.39634	0.990000	0.47175	0.154000	0.21943	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGT	COL22A1	-	pfam_Collagen		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139629165	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.992	T	T	139629165	C	T	139629165	3	4	11	1	0	0	0	0	1	0	0	0	3686	652	23	2	1066	2	COL22A1	8	139629165	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	66148772	139629165	6734857	56	1270										
NFKBIL2	4796	genome.wustl.edu	37	chr8	145659414	145659414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aagctggcgcaggccttcggGacccaggtgattggaggaga	17	9	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:145659414G>T	ENST00000409379.3	-	21	3363	c.3334C>A	c.(3334-3336)Ccc>Acc	p.P1112T	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1112					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGCCTTCGGGACCCAGGTGA	0.662																																																	0													25	27	27					8																	145659414		2202	4300	6502	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3334C>A	8.37:g.145659414G>T	ENSP00000386239:p.Pro1112Thr		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P1112T	ENST00000409379.3	37	c.3334	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	7.299	0.612596	0.14066	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.52754	0.65	5.35	1.06	0.20224	.	0.408783	0.25604	N	0.029530	T	0.24470	0.0593	N	0.05383	-0.06	0.09310	N	1	P	0.34864	0.473	B	0.34991	0.193	T	0.17715	-1.0360	10	0.31617	T	0.26	-3.8919	10.1776	0.42948	0.0782:0.3385:0.5833:0.0	.	1112	Q96HA7	TONSL_HUMAN	T	1112;1111	ENSP00000386239:P1112T	ENSP00000386239:P1112T	P	-	1	0	TONSL	145630222	0.439000	0.25610	0.599000	0.28851	0.418000	0.31294	0.545000	0.23268	0.626000	0.30322	0.462000	0.41574	CCC	TONSL	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145659414	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.087	T	T	145659414	G	T	145659414	3	4	11	1	0	0	0	0	1	0	0	0	10406	1174	41	3	826	3	NFKBIL2	8	145659414	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	6030249	145659414	704608	57	1271										
FREM1	158326	genome.wustl.edu	37	chr9	14801858	14801858	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gaagagtccagctctttcatCtgaccctcacacacctgagc	7	15	4	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr9:14801858C>G	ENST00000380880.3	-	20	4269	c.3486G>C	c.(3484-3486)caG>caC	p.Q1162H	FREM1_ENST00000380881.4_Missense_Mutation_p.Q1163H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q1162H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1162					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTCTTTCATCTGACCCTCAC	0.468																																																	0													126	122	124					9																	14801858		2028	4198	6226	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3486G>C	9.37:g.14801858C>G	ENSP00000370262:p.Gln1162His		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.Q1163H	ENST00000380880.3	37	c.3489	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	5.523	0.281515	0.10458	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.51071	0.72;0.72;0.72	5.5	4.59	0.56863	.	0.715260	0.14638	N	0.307392	T	0.35422	0.0931	L	0.29908	0.895	0.28388	N	0.919201	B	0.09022	0.002	B	0.10450	0.005	T	0.24621	-1.0155	10	0.45353	T	0.12	0.0	8.8363	0.35115	0.0:0.7628:0.1571:0.0801	.	1162	Q5H8C1	FREM1_HUMAN	H	1163;1162;1162	ENSP00000370263:Q1163H;ENSP00000412940:Q1162H;ENSP00000370262:Q1162H	ENSP00000370257:Q1165H	Q	-	3	2	FREM1	14791858	0.299000	0.24426	0.854000	0.33618	0.161000	0.22273	0.111000	0.15458	1.274000	0.44362	0.655000	0.94253	CAG	FREM1	-	superfamily_Cadherin-like		0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	C	NM_144966		14801858	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	0.944	G	G	14801858	C	G	14801858	3	3	11	1	0	0	0	0	1	0	0	0	6062	912	32	1	3175	1	FREM1	9	14801858	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		14801858	126411573	58	1272										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123298654	123298654	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gggacaagagccagacctgtCtttctcatccaggaccagag	11	12	2	3	rs201528173		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr9:123298654C>G	ENST00000349780.4	-	7	837	c.658G>C	c.(658-660)Gac>Cac	p.D220H	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D220H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D220H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D220H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	220					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCAGACCTGTCTTTCTCATCC	0.498																																																	0													139	122	128					9																	123298654		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.658G>C	9.37:g.123298654C>G	ENSP00000343818:p.Asp220His		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.D220H	ENST00000349780.4	37	c.658	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918359	0.73098	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.05580	3.55;3.42;3.51;3.42	5.39	5.39	0.77823	.	0.353602	0.24233	N	0.040326	T	0.22513	0.0543	L	0.57536	1.79	0.39754	D	0.971923	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.979;0.979;0.999;0.968	T	0.00258	-1.1871	10	0.72032	D	0.01	.	16.0686	0.80907	0.0:1.0:0.0:0.0	.	21;220;220;220	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	H	220;220;220;220;222	ENSP00000354065:D220H;ENSP00000352258:D220H;ENSP00000343818:D220H;ENSP00000353317:D220H	ENSP00000341695:D222H	D	-	1	0	CDK5RAP2	122338475	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.412000	0.59787	2.521000	0.84997	0.557000	0.71058	GAC	CDK5RAP2	-	NULL		0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123298654	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123298654	C	G	123298654	3	3	11	1	0	0	0	0	1	0	0	0	3151	913	32	1	5151	1	CDK5RAP2	9	123298654	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	108496796	123298654	17914777	59	1273										
USP54	159195	genome.wustl.edu	37	chr10	75258749	75258749	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgtggcagtgtaggttagttGaggattgcaccctggagtag	16	5	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:75258749G>A	ENST00000339859.4	-	23	4793	c.4693C>T	c.(4693-4695)Caa>Taa	p.Q1565*	USP54_ENST00000422491.2_Nonsense_Mutation_p.Q700*|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|PPP3CB_ENST00000394829.2_5'Flank|PPP3CB_ENST00000394822.2_5'Flank|RP11-137L10.6_ENST00000600206.1_RNA|PPP3CB_ENST00000394828.2_5'Flank|PPP3CB_ENST00000360663.5_5'Flank|USP54_ENST00000394811.2_Nonsense_Mutation_p.Q606*|RP11-137L10.6_ENST00000596320.1_RNA|PPP3CB_ENST00000342558.3_5'Flank|USP54_ENST00000408019.1_Nonsense_Mutation_p.Q1565*|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000428547.1_Nonsense_Mutation_p.Q1415*|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1565					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGGTTAGTTGAGGATTGCAC	0.547																																					Colon(195;880 2046 8854 25025 38456)												0													251	222	232					10																	75258749		2203	4300	6503	SO:0001587	stop_gained	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4693C>T	10.37:g.75258749G>A	ENSP00000345216:p.Gln1565*		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q1565*	ENST00000339859.4	37	c.4693	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	41	8.721230	0.98929	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.4985	14.0551	0.64764	0.0:0.0:0.8395:0.1605	.	.	.	.	X	1565;1565;1415;606;700	.	ENSP00000345216:Q1565X	Q	-	1	0	USP54	74928755	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.064000	0.41432	2.509000	0.84616	0.542000	0.68232	CAA	USP54	-	NULL		0.547	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75258749	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	75258749	G	A	75258749	4	1	11	1	0	0	0	0	0	1	0	0	17116	1299	45	1	365	1	USP54	10	75258749	Nonsense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		75258749	60275998	60	1274										
PTEN	5728	genome.wustl.edu	37	chr10	89685300	89685300	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcaaagcataaaaaccattaCaagatatacaatctgtaagt	4	7	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:89685300C>G	ENST00000371953.3	+	3	1552	c.195C>G	c.(193-195)taC>taG	p.Y65*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	65	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y65*(5)|p.Y27fs*1(2)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAACCATTACAAGATATACA	0.269		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(6)|Substitution - Nonsense(5)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(14)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)											37	39	39					10																	89685300		2182	4275	6457	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.195C>G	10.37:g.89685300C>G	ENSP00000361021:p.Tyr65*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y65*	ENST00000371953.3	37	c.195	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.354545	0.99831	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.46	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2654	11.1595	0.48507	0.0:0.8515:0.0:0.1485	.	.	.	.	X	65	.	.	Y	+	3	2	PTEN	89675280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.808000	0.38912	1.297000	0.44761	0.655000	0.94253	TAC	PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.269	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89685300	1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	89685300	C	G	89685300	4	3	11	1	0	0	0	0	0	1	0	0	12765	489	17	4	205	4	PTEN	10	89685300	Nonsense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	14426551	89685300	45849447	61	1275										
CYP2C9	1559	genome.wustl.edu	37	chr10	96741048	96741048	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgtggtgcacgaggtccagaGatacattgaccttctcccca	10	12	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:96741048G>C	ENST00000260682.6	+	7	1082	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	357					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGGTCCAGAGATACATTGAC	0.507																																					Ovarian(54;1266 1406 16072 35076)												0													202	165	178					10																	96741048		2203	4300	6503	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1070G>C	10.37:g.96741048G>C	ENSP00000260682:p.Arg357Thr		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R357T	ENST00000260682.6	37	c.1070	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	16.29	3.081806	0.55861	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	D	0.97480	-4.4	3.78	3.78	0.43462	.	0.000000	0.64402	U	0.000002	D	0.99026	0.9667	H	0.98594	4.275	0.44067	D	0.996817	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98648	1.0678	10	0.87932	D	0	.	13.4839	0.61353	0.0:0.0:1.0:0.0	.	357;357	Q5VX92;P11712	.;CP2C9_HUMAN	T	357	ENSP00000260682:R357T	ENSP00000260682:R357T	R	+	2	0	CYP2C9	96731038	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	8.432000	0.90288	2.124000	0.65301	0.305000	0.20034	AGA	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	G	NM_000771		96741048	1	no_errors	ENST00000260682	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96741048	G	C	96741048	3	2	11	1	0	0	0	0	1	0	0	0	4173	942	33	1	1096	1	CYP2C9	10	96741048	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	7055748	96741048	38793699	62	1276										
BLNK	29760	genome.wustl.edu	37	chr10	97959869	97959869	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgcctcttcagcagactttcGatcacaggctccagcatacc	7	15	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:97959869G>T	ENST00000224337.5	-	15	1198	c.1057C>A	c.(1057-1059)Cga>Aga	p.R353R	BLNK_ENST00000427367.2_Silent_p.R353R|BLNK_ENST00000413476.2_Silent_p.R353R|BLNK_ENST00000371176.2_Silent_p.R330R	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	353	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GCAGACTTTCGATCACAGGCT	0.378																																																	0													67	59	61					10																	97959869		2203	4300	6503	SO:0001819	synonymous_variant	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1057C>A	10.37:g.97959869G>T			O75498|O75499|Q2MD49	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.R353	ENST00000224337.5	37	c.1057	CCDS7446.1	10																																																																																			BLNK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.378	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	G	NM_013314		97959869	-1	no_errors	ENST00000224337	ensembl	human	known	70_37	silent	SNP	1.000	T	T	97959869	G	T	97959869	2	4	11	1	0	0	0	0	0	0	0	1	1448	1066	37	3		3	BLNK	10	97959869	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	1218821	97959869	37574878	63	1277										
LCOR	84458	genome.wustl.edu	37	chr10	98714983	98714983	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gcaaaaccacattacgagttCaacctcagccgtatgaagtt	7	11	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:98714983C>T	ENST00000371097.4	+	8	1152	c.606C>T	c.(604-606)ttC>ttT	p.F202F	LCOR_ENST00000371103.3_Silent_p.F202F|LCOR_ENST00000356016.3_Silent_p.F202F|LCOR_ENST00000540664.1_Silent_p.F202F|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	202					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATTACGAGTTCAACCTCAGCC	0.468																																																	0													68	65	66					10																	98714983		2203	4300	6503	SO:0001819	synonymous_variant	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.606C>T	10.37:g.98714983C>T			D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.F202	ENST00000371097.4	37	c.606	CCDS7451.1	10																																																																																			LCOR	-	NULL		0.468	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	HGNC	protein_coding	OTTHUMT00000049628.2	C			98714983	1	no_errors	ENST00000356016	ensembl	human	known	70_37	silent	SNP	1.000	T	T	98714983	C	T	98714983	2	4	11	1	0	0	0	0	0	0	0	1	8709	825	29	1		1	LCOR	10	98714983	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	755114	98714983	36819764	64	1278										
OR52N4	390072	genome.wustl.edu	37	chr11	5776878	5776878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggtgaaaaccaaacagatacGagactgtgtcataaggatcc	10	8	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:5776878G>T	ENST00000317254.3	+	1	956	c.908G>T	c.(907-909)cGa>cTa	p.R303L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAACAGATACGAGACTGTGTC	0.423																																																	0													87	80	82					11																	5776878		1896	4141	6037	SO:0001583	missense	390072			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.908G>T	11.37:g.5776878G>T	ENSP00000323224:p.Arg303Leu		B2RNP8|Q6IF77	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R303L	ENST00000317254.3	37	c.908	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740317	0.30865	.	.	ENSG00000181074	ENST00000317254	T	0.57595	0.39	5.69	1.78	0.24846	.	0.231783	0.21621	N	0.071660	T	0.54791	0.1880	M	0.72624	2.21	0.20074	N	0.999934	B	0.30763	0.294	B	0.39217	0.294	T	0.56171	-0.8023	10	0.87932	D	0	.	10.1572	0.42829	0.2764:0.0:0.7236:0.0	.	303	Q8NGI2	O52N4_HUMAN	L	303	ENSP00000323224:R303L	ENSP00000323224:R303L	R	+	2	0	OR52N4	5733454	0.011000	0.17503	0.638000	0.29380	0.075000	0.17131	1.670000	0.37502	0.778000	0.33520	-0.769000	0.03391	CGA	OR52N4	-	prints_GPCR_Rhodpsn		0.423	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	HGNC	protein_coding	OTTHUMT00000143350.1	G	NM_001005175		5776878	1	no_errors	ENST00000317254	ensembl	human	known	70_37	missense	SNP	0.457	T	T	5776878	G	T	5776878	3	4	11	1	0	0	0	0	1	0	0	0	11153	1058	37	3	910	3	OR52N4	11	5776878	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		5776878	129229638	65	1279										
DCHS1	8642	genome.wustl.edu	37	chr11	6649939	6649939	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggtctgggggtcctggccctCaggcacctccagagagagat	15	12	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:6649939C>G	ENST00000299441.3	-	13	5695	c.5284G>C	c.(5284-5286)Gag>Cag	p.E1762Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1762	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGCCCTCAGGCACCTCC	0.572																																																	0													97	90	93					11																	6649939		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5284G>C	11.37:g.6649939C>G	ENSP00000299441:p.Glu1762Gln		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1762Q	ENST00000299441.3	37	c.5284	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582546	0.86748	.	.	ENSG00000166341	ENST00000299441	T	0.75938	-0.98	4.64	4.64	0.57946	Cadherin (3);Cadherin-like (1);	0.000000	0.45606	D	0.000345	D	0.89252	0.6662	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92002	0.5611	10	0.87932	D	0	.	16.6813	0.85292	0.0:1.0:0.0:0.0	.	1762	Q96JQ0	PCD16_HUMAN	Q	1762	ENSP00000299441:E1762Q	ENSP00000299441:E1762Q	E	-	1	0	DCHS1	6606515	1.000000	0.71417	0.978000	0.43139	0.733000	0.41908	7.402000	0.79972	2.421000	0.82119	0.563000	0.77884	GAG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6649939	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6649939	C	G	6649939	3	3	11	1	0	0	0	0	1	0	0	0	4292	835	29	1	4648	1	DCHS1	11	6649939	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	873061	6649939	128356577	66	1280										
OR10A3	26496	genome.wustl.edu	37	chr11	7960477	7960477	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atggtgcctgtgaaggcataGatttcaaataagaaggtgtc	12	5	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:7960477G>C	ENST00000360759.3	-	1	664	c.591C>G	c.(589-591)atC>atG	p.I197M		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	197					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGGCATAGATTTCAAATA	0.413																																																	0													91	86	88					11																	7960477		2201	4296	6497	SO:0001583	missense	26496			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.591C>G	11.37:g.7960477G>C	ENSP00000353988:p.Ile197Met		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I197M	ENST00000360759.3	37	c.591	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.117554	0.01785	.	.	ENSG00000170683	ENST00000360759	T	0.00188	8.59	4.95	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.181749	0.26052	U	0.026633	T	0.00144	0.0004	N	0.26130	0.795	0.23238	N	0.998064	B	0.21452	0.056	B	0.33254	0.16	T	0.09509	-1.0671	10	0.09843	T	0.71	.	6.0006	0.19519	0.088:0.0:0.5762:0.3358	.	197	P58181	O10A3_HUMAN	M	197	ENSP00000353988:I197M	ENSP00000353988:I197M	I	-	3	3	OR10A3	7917053	0.000000	0.05858	1.000000	0.80357	0.610000	0.37248	-0.043000	0.12043	0.789000	0.33779	-0.188000	0.12872	ATC	OR10A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1	G	NM_001003745		7960477	-1	no_errors	ENST00000360759	ensembl	human	known	70_37	missense	SNP	0.990	C	C	7960477	G	C	7960477	3	2	11	1	0	0	0	0	1	0	0	0	10915	932	33	1	356	1	OR10A3	11	7960477	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	1310538	7960477	127046039	67	1281										
BTBD10	84280	genome.wustl.edu	37	chr11	13441050	13441050	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgcagtaaaaatggatgggtCtacaacaaatctagtgttat	9	5	2	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:13441050C>G	ENST00000278174.5	-	4	786	c.541G>C	c.(541-543)Gac>Cac	p.D181H	BTBD10_ENST00000528120.1_Missense_Mutation_p.D133H|BTBD10_ENST00000530907.1_Missense_Mutation_p.D189H|BTBD10_ENST00000532261.1_5'UTR	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	181	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATGGATGGGTCTACAACAAAT	0.358																																																	0													133	136	135					11																	13441050		2200	4292	6492	SO:0001583	missense	84280			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.541G>C	11.37:g.13441050C>G	ENSP00000278174:p.Asp181His		B7Z228|Q86WG1	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.D181H	ENST00000278174.5	37	c.541	CCDS7811.1	11	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827271	0.90955	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.83075	-1.68;-1.68;-1.68	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.90290	0.6963	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.991;0.991;0.991	D	0.90999	0.4841	10	0.87932	D	0	-49.3969	18.8084	0.92048	0.0:1.0:0.0:0.0	.	150;189;181;181	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	H	181;189;133	ENSP00000278174:D181H;ENSP00000431186:D189H;ENSP00000435257:D133H	ENSP00000278174:D181H	D	-	1	0	BTBD10	13397626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.699000	0.84547	2.534000	0.85438	0.650000	0.86243	GAC	BTBD10	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.358	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD10	HGNC	protein_coding	OTTHUMT00000386200.1	C	NM_032320		13441050	-1	no_errors	ENST00000278174	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13441050	C	G	13441050	3	3	11	1	0	0	0	0	1	0	0	0	1541	913	32	1	910	1	BTBD10	11	13441050	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	5480573	13441050	121565466	68	1282										
CCDC34	91057	genome.wustl.edu	37	chr11	27384593	27384593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gcggcagcggcggcgacggcGagcgcaccacctccagcccc	15	19	0	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:27384593G>A	ENST00000328697.6	-	1	822	c.149C>T	c.(148-150)tCg>tTg	p.S50L	CCDC34_ENST00000317945.6_Missense_Mutation_p.S50L	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	50										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CGGCGACGGCGAGCGCACCAC	0.662																																																	0													55	53	54					11																	27384593		2202	4299	6501	SO:0001583	missense	91057			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.149C>T	11.37:g.27384593G>A	ENSP00000330240:p.Ser50Leu		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	NULL	p.S50L	ENST00000328697.6	37	c.149	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	G	4.307	0.056170	0.08291	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.27890	3.29;1.64	4.3	2.36	0.29203	.	6.628220	0.00575	N	0.000317	T	0.20333	0.0489	N	0.19112	0.55	0.09310	N	1	B;B	0.24132	0.098;0.007	B;B	0.16722	0.016;0.003	T	0.14896	-1.0456	10	0.22109	T	0.4	17.1675	4.6381	0.12534	0.1167:0.0:0.6664:0.2169	.	50;50	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	L	50	ENSP00000330240:S50L;ENSP00000321563:S50L	ENSP00000321563:S50L	S	-	2	0	CCDC34	27341169	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.093000	0.11111	0.508000	0.28173	-0.182000	0.12963	TCG	CCDC34	-	NULL		0.662	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	G	NM_030771		27384593	-1	no_errors	ENST00000328697	ensembl	human	known	70_37	missense	SNP	0.003	A	A	27384593	G	A	27384593	3	1	11	1	0	0	0	0	1	0	0	0	2812	1059	37	1	1080	1	CCDC34	11	27384593	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	13943543	27384593	107621923	69	1283										
FBXO3	26273	genome.wustl.edu	37	chr11	33763601	33763601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcctcctcctcctcttcttcCatctcttcatattcatcagg	2	17	6	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:33763601C>A	ENST00000265651.3	-	11	1287	c.1269G>T	c.(1267-1269)atG>atT	p.M423I	FBXO3_ENST00000532057.1_Missense_Mutation_p.M110I|FBXO3_ENST00000531080.1_Missense_Mutation_p.M110I|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.M310I	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	423	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		cctcttcttccATCTCTTCAT	0.393																																																	0													96	75	82					11																	33763601		2202	4298	6500	SO:0001583	missense	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1269G>T	11.37:g.33763601C>A	ENSP00000265651:p.Met423Ile		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like	p.M423I	ENST00000265651.3	37	c.1269	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010519	0.19277	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.92	3.95	0.45737	.	0.496764	0.23997	N	0.042512	T	0.16214	0.0390	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05321	-1.0892	10	0.39692	T	0.17	-15.3381	11.7825	0.52023	0.0:0.822:0.1779:0.0	.	423	Q9UK99	FBX3_HUMAN	I	310;423;110;110	ENSP00000435680:M310I;ENSP00000265651:M423I;ENSP00000435165:M110I;ENSP00000434001:M110I	ENSP00000265651:M423I	M	-	3	0	FBXO3	33720177	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.452000	0.35156	2.420000	0.82092	0.561000	0.74099	ATG	FBXO3	-	NULL		0.393	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	C	NM_012175		33763601	-1	no_errors	ENST00000265651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33763601	C	A	33763601	3	1	11	1	0	0	0	0	1	0	0	0	5757	594	21	4	150	4	FBXO3	11	33763601	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	6379008	33763601	101242915	70	1284										
OR8J1	219477	genome.wustl.edu	37	chr11	56128642	56128642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgctctacagagattcatgaCaaatctgtgctattccttta	6	9	3	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:56128642C>A	ENST00000303039.3	+	1	952	c.920C>A	c.(919-921)aCa>aAa	p.T307K		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AGATTCATGACAAATCTGTGC	0.358																																																	0													63	58	60					11																	56128642		2201	4296	6497	SO:0001583	missense	219477			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.920C>A	11.37:g.56128642C>A	ENSP00000304060:p.Thr307Lys		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T307K	ENST00000303039.3	37	c.920	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186106	0.01620	.	.	ENSG00000172487	ENST00000303039	T	0.35605	1.3	4.02	0.702	0.18110	.	0.833623	0.10606	N	0.655068	T	0.10508	0.0257	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34725	-0.9817	10	0.05721	T	0.95	.	6.1622	0.20370	0.3809:0.4336:0.1855:0.0	.	307	Q8NGP2	OR8J1_HUMAN	K	307	ENSP00000304060:T307K	ENSP00000304060:T307K	T	+	2	0	OR8J1	55885218	0.001000	0.12720	0.008000	0.14137	0.082000	0.17680	-0.025000	0.12413	0.436000	0.26393	0.549000	0.68633	ACA	OR8J1	-	NULL		0.358	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	C	NM_001005205		56128642	1	no_errors	ENST00000303039	ensembl	human	known	70_37	missense	SNP	0.038	A	A	56128642	C	A	56128642	3	1	11	1	0	0	0	0	1	0	0	0	11265	478	17	4	922	4	OR8J1	11	56128642	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	22365041	56128642	78877874	71	1285										
CD6	923	genome.wustl.edu	37	chr11	60776277	60776277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ccggggctgccaggacagcaCtactgcggccacaaagagga	14	13	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:60776277C>A	ENST00000313421.7	+	4	927	c.741C>A	c.(739-741)caC>caA	p.H247Q	CD6_ENST00000346437.4_Missense_Mutation_p.H247Q|CD6_ENST00000344028.5_Missense_Mutation_p.H247Q|CD6_ENST00000352009.5_Missense_Mutation_p.H247Q|CD6_ENST00000452451.2_Missense_Mutation_p.H247Q|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	247	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGGACAGCACTACTGCGGCC	0.667																																					Pancreas(169;904 2017 4767 38890 42505)												0													17	18	18					11																	60776277		2200	4297	6497	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.741C>A	11.37:g.60776277C>A	ENSP00000323280:p.His247Gln		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.H247Q	ENST00000313421.7	37	c.741	CCDS7999.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.728|5.728	0.318699|0.318699	0.10845|0.10845	.|.	.|.	ENSG00000013725|ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009|ENST00000538611	T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	4.42|4.42	-3.41|-3.41	0.04839|0.04839	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);|.	0.636179|.	0.12997|.	N|.	0.421924|.	T|T	0.51261|0.51261	0.1664|0.1664	M|M	0.67517|0.67517	2.055|2.055	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.21452|.	0.035;0.028;0.016;0.056;0.002|.	B;B;B;B;B|.	0.30105|.	0.065;0.019;0.012;0.111;0.008|.	T|T	0.54912|0.54912	-0.8222|-0.8222	10|5	0.40728|.	T|.	0.16|.	.|.	12.0958|12.0958	0.53755|0.53755	0.0:0.3661:0.5305:0.1034|0.0:0.3661:0.5305:0.1034	.|.	247;247;247;247;247|.	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7|.	.;.;.;CD6_HUMAN;.|.	Q|N	247|91	ENSP00000344108:H247Q;ENSP00000345566:H247Q;ENSP00000323280:H247Q;ENSP00000440055:H247Q;ENSP00000410638:H247Q;ENSP00000390676:H247Q;ENSP00000340628:H247Q|.	ENSP00000323280:H247Q|.	H|T	+|+	3|2	2|0	CD6|CD6	60532853|60532853	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	-1.157000|-1.157000	0.03157|0.03157	-0.479000|-0.479000	0.06813|0.06813	0.655000|0.655000	0.94253|0.94253	CAC|ACT	CD6	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.667	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1	C	NM_006725		60776277	1	no_errors	ENST00000313421	ensembl	human	known	70_37	missense	SNP	0.000	A	A	60776277	C	A	60776277	3	1	11	1	0	0	0	0	1	0	0	0	3033	564	20	4	755	4	CD6	11	60776277	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	4647635	60776277	74230239	72	1286										
BRMS1	25855	genome.wustl.edu	37	chr11	66109569	66109569	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtgtgtgtaggggctcaccgGagctctcctcttctgactct	12	12	5	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:66109569G>C	ENST00000359957.3	-	2	297	c.137C>G	c.(136-138)tCc>tGc	p.S46C	BRMS1_ENST00000425825.2_Missense_Mutation_p.S46C|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	46					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GGGCTCACCGGAGCTCTCCTC	0.567																																					GBM(7;55 307 2662 20856 28942)												0													125	91	103					11																	66109569		2200	4295	6495	SO:0001583	missense	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.137C>G	11.37:g.66109569G>C	ENSP00000353042:p.Ser46Cys		Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.S46C	ENST00000359957.3	37	c.137	CCDS8135.1	11	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466111	0.63625	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	.	0.195255	0.34178	N	0.004186	T	0.73969	0.3655	L	0.54323	1.7	0.42623	D	0.993352	D;D	0.76494	0.997;0.999	P;D	0.70716	0.892;0.97	T	0.77242	-0.2660	9	0.66056	D	0.02	-26.1278	15.0486	0.71846	0.0:0.0:1.0:0.0	.	46;46	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	C	46	.	ENSP00000353042:S46C	S	-	2	0	BRMS1	65866145	1.000000	0.71417	0.996000	0.52242	0.628000	0.37860	5.928000	0.70088	2.234000	0.73211	0.591000	0.81541	TCC	BRMS1	-	NULL		0.567	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	G	NM_015399		66109569	-1	no_errors	ENST00000425825	ensembl	human	known	70_37	missense	SNP	0.980	C	C	66109569	G	C	66109569	3	2	11	1	0	0	0	0	1	0	0	0	1519	1174	41	1	783	1	BRMS1	11	66109569	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	5333292	66109569	68896947	73	1287										
SPTBN2	6712	genome.wustl.edu	37	chr11	66460084	66460084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctggatccactgttccaggtCatccagctcgcggcggagct	12	14	1	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:66460084C>T	ENST00000533211.1	-	26	5444	c.5113G>A	c.(5113-5115)Gac>Aac	p.D1705N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1705N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1705N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1705					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGTTCCAGGTCATCCAGCTCG	0.677																																																	0													49	46	47					11																	66460084		2200	4295	6495	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5113G>A	11.37:g.66460084C>T	ENSP00000432568:p.Asp1705Asn		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D1705N	ENST00000533211.1	37	c.5113	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747597	0.89663	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.55930	0.49;0.49;0.49	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	M	0.93197	3.39	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.85057	0.0932	10	0.72032	D	0.01	.	17.0374	0.86480	0.0:1.0:0.0:0.0	.	1705	O15020	SPTN2_HUMAN	N	1705	ENSP00000432568:D1705N;ENSP00000311489:D1705N;ENSP00000433593:D1705N	ENSP00000311489:D1705N	D	-	1	0	SPTBN2	66216660	1.000000	0.71417	0.999000	0.59377	0.263000	0.26337	7.604000	0.82830	2.550000	0.86006	0.462000	0.41574	GAC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.677	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66460084	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66460084	C	T	66460084	3	4	11	1	0	0	0	0	1	0	0	0	15150	826	29	1	2111	1	SPTBN2	11	66460084	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	350515	66460084	68546432	74	1288										
IGHMBP2	3508	genome.wustl.edu	37	chr11	68704244	68704244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	accaaatagccgaggagcacGggctgaggcacgacagttcc	13	12	0	1	rs201989968		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:68704244G>A	ENST00000255078.3	+	13	2407	c.2296G>A	c.(2296-2298)Ggg>Agg	p.G766R		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	766	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.|SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGAGGAGCACGGGCTGAGGCA	0.617																																																	0													57	52	54					11																	68704244		2200	4294	6494	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2296G>A	11.37:g.68704244G>A	ENSP00000255078:p.Gly766Arg		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.G766R	ENST00000255078.3	37	c.2296	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946326	0.92593	.	.	ENSG00000132740	ENST00000255078	T	0.55760	0.5	4.35	4.35	0.52113	Single-stranded nucleic acid binding R3H (3);	0.904041	0.09294	N	0.821893	T	0.80003	0.4544	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79671	-0.1706	10	0.72032	D	0.01	-11.3502	16.0177	0.80455	0.0:0.0:1.0:0.0	.	766	P38935	SMBP2_HUMAN	R	766	ENSP00000255078:G766R	ENSP00000255078:G766R	G	+	1	0	IGHMBP2	68460820	1.000000	0.71417	0.947000	0.38551	0.967000	0.64934	9.245000	0.95431	2.136000	0.66102	0.561000	0.74099	GGG	IGHMBP2	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.617	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68704244	1	no_errors	ENST00000255078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68704244	G	A	68704244	3	1	11	1	0	0	0	0	1	0	0	0	7611	1116	39	2	2346	2	IGHMBP2	11	68704244	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	2244160	68704244	66302272	75	1289										
RNF214	257160	genome.wustl.edu	37	chr11	117150913	117150913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcactagagagccggaaagaGttactggtactgaaactaga	11	7	1	4			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:117150913G>A	ENST00000531452.1	+	8	1129	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	RNF214_ENST00000300650.4_Silent_p.E361E|RNF214_ENST00000530849.1_Silent_p.E206E|RNF214_ENST00000531287.1_Silent_p.E206E	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	361							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCGGAAAGAGTTACTGGTAC	0.363																																																	0													145	134	137					11																	117150913		1828	4093	5921	SO:0001819	synonymous_variant	257160			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1083G>A	11.37:g.117150913G>A			B2RUW0|B4DTD1	Silent	SNP	pfscan_Znf_RING	p.E361	ENST00000531452.1	37	c.1083	CCDS41720.1	11																																																																																			RNF214	-	NULL		0.363	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	G	NM_001077239		117150913	1	no_errors	ENST00000300650	ensembl	human	known	70_37	silent	SNP	0.998	A	A	117150913	G	A	117150913	2	1	11	1	0	0	0	0	0	0	0	1	13508	1020	36	4		4	RNF214	11	117150913	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	48446669	117150913	17855603	76	1290										
PDE3A	5139	genome.wustl.edu	37	chr12	20782869	20782869	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cgctaaaatttcacctctttCatcgccctgctcctcacctc	3	18	4	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:20782869C>G	ENST00000359062.3	+	6	1608	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	523					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCACCTCTTTCATCGCCCTGC	0.448																																																	0													92	93	93					12																	20782869		2203	4300	6503	SO:0001587	stop_gained	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1568C>G	12.37:g.20782869C>G	ENSP00000351957:p.Ser523*		O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.S523*	ENST00000359062.3	37	c.1568	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.563289	0.97667	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.2	4.29	0.51040	.	1.836580	0.02194	N	0.061674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	8.322	0.32134	0.1568:0.7649:0.0:0.0782	.	.	.	.	X	523	.	ENSP00000351957:S523X	S	+	2	0	PDE3A	20674136	0.750000	0.28316	0.087000	0.20705	0.997000	0.91878	3.204000	0.51082	1.386000	0.46466	0.585000	0.79938	TCA	PDE3A	-	NULL		0.448	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20782869	1	no_errors	ENST00000359062	ensembl	human	known	70_37	nonsense	SNP	0.127	G	G	20782869	C	G	20782869	4	3	11	1	0	0	0	0	0	1	0	0	11661	838	29	1	1590	1	PDE3A	12	20782869	Nonsense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		20782869	113069026	77	1291										
KCNJ8	3764	genome.wustl.edu	37	chr12	21919523	21919523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aaacccaatggtaacttgaaCttcaatggagaagagaaaag	9	6	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:21919523C>A	ENST00000240662.2	-	3	754	c.409G>T	c.(409-411)Gtt>Ttt	p.V137F	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	137					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GTAACTTGAACTTCAATGGAG	0.408																																																	0													69	63	65					12																	21919523		2203	4300	6503	SO:0001583	missense	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.409G>T	12.37:g.21919523C>A	ENSP00000240662:p.Val137Phe		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.V137F	ENST00000240662.2	37	c.409	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656312	0.88056	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.96136	-3.92	5.11	5.11	0.69529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98362	1.0549	10	0.87932	D	0	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	137	Q15842	IRK8_HUMAN	F	137	ENSP00000240662:V137F	ENSP00000240662:V137F	V	-	1	0	KCNJ8	21810790	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.900000	0.69853	2.667000	0.90743	0.563000	0.77884	GTT	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.408	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	C	NM_004982		21919523	-1	no_errors	ENST00000240662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21919523	C	A	21919523	3	1	11	1	0	0	0	0	1	0	0	0	8076	565	20	4	869	4	KCNJ8	12	21919523	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	1136654	21919523	111932372	78	1292										
ABCC9	10060	genome.wustl.edu	37	chr12	21968729	21968730	+	Frame_Shift_Ins	INS	-	-	CTTAAGAA													0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttgatgtaagccttgacgtgINScttaagaacaggtttcagat							TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:21968729_21968730insCTTAAGAA	ENST00000261201.4	-	32	3989_3990	c.3990_3991insTTCTTAAG	c.(3988-3993)aagcacfs	p.H1331fs	ABCC9_ENST00000345162.2_Frame_Shift_Ins_p.H1295fs|ABCC9_ENST00000261200.4_Frame_Shift_Ins_p.H1331fs	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1331	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCCTTGACGTGCTTAAGAACAG	0.391																																																	0																																										SO:0001589	frameshift_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3983_3990dupTTCTTAAG	12.37:g.21968730_21968737dupCTTAAGAA	ENSP00000261201:p.His1331fs		O60707	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H1330fs	ENST00000261201.4	37	c.3991_3990	CCDS8694.1	12																																																																																			ABCC9	-	pfscan_ABC_transporter-like		0.391	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	NM_005691		21968730	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	CTTAAGAA	CTTAAGAA	21968730	-	CTTAAGAA	21968729	7	5	11	1	0	1	1	0	0	0	0	0	59	1319	46	0	828	0	ABCC9	12	21968729	Frame_Shift_Ins	INS	-	TCGA-C5-A1BM-01A-11D-A13W-08	49206	21968729	111883166	79	1293										
MLL2	8085	genome.wustl.edu	37	chr12	49427595	49427595	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ccagggagcagctgaccaggGagcttggtgagcagccgggg	19	10	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:49427595G>C	ENST00000301067.7	-	39	10892	c.10893C>G	c.(10891-10893)ctC>ctG	p.L3631L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3631	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTGACCAGGGAGCTTGGTGA	0.652																																																	0													10	13	12					12																	49427595		2171	4270	6441	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10893C>G	12.37:g.49427595G>C			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3631	ENST00000301067.7	37	c.10893	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49427595	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	1.000	C	C	49427595	G	C	49427595	2	2	11	1	0	0	0	0	0	0	0	1	9644	1161	41	1		1	MLL2	12	49427595	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	27458866	49427595	84424300	80	1294										
MLL2	8085	genome.wustl.edu	37	chr12	49427852	49427852	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aagtttgctttcccccacctGatccagttgtttctggatct	7	12	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:49427852G>A	ENST00000301067.7	-	38	10737	c.10738C>T	c.(10738-10740)Cag>Tag	p.Q3580*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3580	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCCCCACCTGATCCAGTTGT	0.577																																																	0													53	49	50					12																	49427852		2029	4195	6224	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10738C>T	12.37:g.49427852G>A	ENSP00000301067:p.Gln3580*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3580*	ENST00000301067.7	37	c.10738	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	51	18.530748	0.99906	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.38	5.38	0.77491	.	0.000000	0.34906	N	0.003598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2915	0.90131	0.0:0.0:1.0:0.0	.	.	.	.	X	3580	.	ENSP00000301067:Q3580X	Q	-	1	0	MLL2	47714119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.711000	0.92665	0.563000	0.77884	CAG	MLL2	-	NULL		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49427852	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49427852	G	A	49427852	4	1	11	1	0	0	0	0	0	1	0	0	9644	1299	45	1	5943	1	MLL2	12	49427852	Nonsense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	257	49427852	84424043	81	1295										
RACGAP1	29127	genome.wustl.edu	37	chr12	50384052	50384052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtaacaggcagatgtgacttCacttgagcattggagaagca	12	7	1	4			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:50384052C>T	ENST00000427314.2	-	19	2121	c.1898G>A	c.(1897-1899)tGa>tAa	p.*633*	RACGAP1_ENST00000454520.2_Silent_p.*633*|RACGAP1_ENST00000434422.1_Silent_p.*633*|RACGAP1_ENST00000312377.5_Silent_p.*633*|RACGAP1_ENST00000547905.1_Silent_p.*633*|RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000551016.1_Silent_p.*633*	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GATGTGACTTCACTTGAGCAT	0.428																																																	0													123	109	113					12																	50384052		2203	4300	6503	SO:0001819	synonymous_variant	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1898G>A	12.37:g.50384052C>T				Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.*633	ENST00000427314.2	37	c.1898	CCDS8795.1	12																																																																																			RACGAP1	-	NULL		0.428	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	C	NM_013277		50384052	-1	no_errors	ENST00000312377	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50384052	C	T	50384052	2	4	11	1	0	0	0	0	0	0	0	1	13007	837	29	1		1	RACGAP1	12	50384052	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	956200	50384052	83467843	82	1296										
SCN8A	6334	genome.wustl.edu	37	chr12	52168059	52168059	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtcttcacctatatcttcatCctggagatgttgctcaagtg	8	10	5	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:52168059C>A	ENST00000354534.6	+	20	3910	c.3732C>A	c.(3730-3732)atC>atA	p.I1244I	SCN8A_ENST00000545061.1_Silent_p.I1244I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1244					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATATCTTCATCCTGGAGATGT	0.488																																																	0													166	167	167					12																	52168059		2196	4300	6496	SO:0001819	synonymous_variant	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3732C>A	12.37:g.52168059C>A			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1244	ENST00000354534.6	37	c.3732	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Ion_trans_dom		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	C	NM_014191		52168059	1	no_errors	ENST00000354534	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52168059	C	A	52168059	2	1	11	1	0	0	0	0	0	0	0	1	13954	845	30	3		3	SCN8A	12	52168059	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	1784007	52168059	81683836	83	1297										
MBD6	114785	genome.wustl.edu	37	chr12	57921757	57921757	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gggagctcctccacccctctCagaggcttctagtcccctag	9	17	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:57921757C>G	ENST00000355673.3	+	9	2719	c.2363C>G	c.(2362-2364)tCa>tGa	p.S788*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.S788*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	788	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCACCCCTCTCAGAGGCTTCT	0.582																																																	0													25	29	28					12																	57921757		2202	4294	6496	SO:0001587	stop_gained	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2363C>G	12.37:g.57921757C>G	ENSP00000347896:p.Ser788*		Q8N3M0|Q8NA81|Q96Q00	Nonsense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S788*	ENST00000355673.3	37	c.2363	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.756111	0.98941	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	5.04	5.04	0.67666	.	0.543770	0.14870	N	0.293577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.0936	15.7907	0.78357	0.0:1.0:0.0:0.0	.	.	.	.	X	788;788;252	.	ENSP00000300263:S252X	S	+	2	0	MBD6	56208024	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.786000	0.95864	0.561000	0.74099	TCA	MBD6	-	NULL		0.582	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57921757	1	no_errors	ENST00000355673	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	57921757	C	G	57921757	4	3	11	1	0	0	0	0	0	1	0	0	9371	838	29	1	2389	1	MBD6	12	57921757	Nonsense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	5753698	57921757	75930138	84	1298										
NAV3	89795	genome.wustl.edu	37	chr12	78444560	78444560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acagcaccctggagacaacaTttgacagcactgtgacaaca	8	12	0	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:78444560T>C	ENST00000397909.2	+	11	2322	c.2149T>C	c.(2149-2151)Ttt>Ctt	p.F717L	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.F717L|NAV3_ENST00000536525.2_Missense_Mutation_p.F717L|NAV3_ENST00000266692.7_Missense_Mutation_p.F717L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	717						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAGACAACATTTGACAGCAC	0.478										HNSCC(70;0.22)																																							0													130	122	124					12																	78444560		1960	4156	6116	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2149T>C	12.37:g.78444560T>C	ENSP00000381007:p.Phe717Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.F717L	ENST00000397909.2	37	c.2149		12	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003512	0.93287	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.9	5.9	0.94986	.	0.000000	0.41500	U	0.000867	T	0.35595	0.0937	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.998	D;D;D	0.87578	0.998;0.952;0.987	T	0.03993	-1.0986	10	0.87932	D	0	-21.7939	16.3317	0.83023	0.0:0.0:0.0:1.0	.	717;717;717	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	L	717	ENSP00000446132:F717L;ENSP00000381007:F717L;ENSP00000228327:F717L;ENSP00000266692:F717L	ENSP00000228327:F717L	F	+	1	0	NAV3	76968691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.264000	0.75181	0.533000	0.62120	TTT	NAV3	-	NULL		0.478	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	T	NM_001024383		78444560	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78444560	T	C	78444560	3	2	11	1	0	0	0	0	1	0	0	0	10208	1493	52	5	2191	5	NAV3	12	78444560	Missense_Mutation	SNP	T	TCGA-C5-A1BM-01A-11D-A13W-08	20522803	78444560	55407335	85	1299										
ATP2A2	488	genome.wustl.edu	37	chr12	110778588	110778588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gatcactggggacaacaaggGcactgctgtggccatctgtc	13	11	2	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:110778588G>A	ENST00000539276.2	+	14	1995	c.1886G>A	c.(1885-1887)gGc>gAc	p.G629D	ATP2A2_ENST00000395494.2_Missense_Mutation_p.G602D|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G629D			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	629					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GACAACAAGGGCACTGCTGTG	0.597																																																	0													90	83	85					12																	110778588		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1886G>A	12.37:g.110778588G>A	ENSP00000440045:p.Gly629Asp		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.G629D	ENST00000539276.2	37	c.1886	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004286	0.74932	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.95724	-3.79;-3.79;-3.79	5.81	5.81	0.92471	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	N	0.01529	-0.815	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.003;0.003;0.004	T	0.82061	-0.0644	10	0.16896	T	0.51	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	602;629;629	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	D	629;602;629	ENSP00000311186:G629D;ENSP00000378872:G602D;ENSP00000440045:G629D	ENSP00000311186:G629D	G	+	2	0	ATP2A2	109262971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GGC	ATP2A2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp		0.597	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	G	NM_001681		110778588	1	no_errors	ENST00000539276	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110778588	G	A	110778588	3	1	11	1	0	0	0	0	1	0	0	0	1138	1203	42	4	1940	4	ATP2A2	12	110778588	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	32334028	110778588	23073307	86	1300										
OAS1	4938	genome.wustl.edu	37	chr12	113354322	113354322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcctcttctcagtgtaagaaGaagcttgggaagctgccacc	10	11	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:113354322G>C	ENST00000202917.5	+	4	926	c.663G>C	c.(661-663)aaG>aaC	p.K221N	OAS1_ENST00000445409.2_Missense_Mutation_p.K221N|OAS1_ENST00000452357.2_Missense_Mutation_p.K221N|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.K221N	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	221					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AGTGTAAGAAGAAGCTTGGGA	0.478																																																	0													55	54	54					12																	113354322		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.663G>C	12.37:g.113354322G>C	ENSP00000202917:p.Lys221Asn		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.K221N	ENST00000202917.5	37	c.663	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	7.559	0.664356	0.14710	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000550883;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T;T	0.48836	0.87;0.87;0.87;0.8;0.87;0.87	4.8	0.565	0.17309	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.817420	0.10786	N	0.634335	T	0.48095	0.1481	M	0.73598	2.24	0.09310	N	0.999997	B;B;B;B;B	0.31611	0.331;0.24;0.01;0.191;0.066	B;B;B;B;B	0.37550	0.253;0.147;0.033;0.075;0.052	T	0.50415	-0.8831	10	0.66056	D	0.02	-10.5323	5.3752	0.16162	0.1828:0.3119:0.5053:0.0	.	221;221;221;221;221	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	N	221;221;221;63;221;221;217	ENSP00000202917:K221N;ENSP00000388001:K221N;ENSP00000415721:K221N;ENSP00000450286:K63N;ENSP00000448790:K221N;ENSP00000448348:K217N	ENSP00000202917:K221N	K	+	3	2	OAS1	111838705	0.000000	0.05858	0.149000	0.22428	0.360000	0.29518	0.097000	0.15168	0.224000	0.20940	-0.244000	0.11960	AAG	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.478	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	G			113354322	1	no_errors	ENST00000445409	ensembl	human	known	70_37	missense	SNP	0.001	C	C	113354322	G	C	113354322	3	2	11	1	0	0	0	0	1	0	0	0	10823	933	33	1	677	1	OAS1	12	113354322	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	2575734	113354322	20497573	87	1301										
FBXW8	26259	genome.wustl.edu	37	chr12	117426609	117426609	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gcccgcctgtcacatgtctaGacgtctcggccaaccaagtt	9	15	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:117426609G>A	ENST00000309909.5	+	7	1256	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	RP11-231I16.1_ENST00000548738.1_RNA|FBXW8_ENST00000455858.2_Missense_Mutation_p.D326N			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	392					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACATGTCTAGACGTCTCGGC	0.512																																																	0													100	102	101					12																	117426609		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1174G>A	12.37:g.117426609G>A	ENSP00000310686:p.Asp392Asn		Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D392N	ENST00000309909.5	37	c.1174	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.353159	0.95830	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.05025	3.51;3.51	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	T	0.00112	-1.2043	10	0.59425	D	0.04	-22.5875	20.2822	0.98520	0.0:0.0:1.0:0.0	.	392;326	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	N	392;326;326	ENSP00000310686:D392N;ENSP00000389144:D326N	ENSP00000310686:D392N	D	+	1	0	FBXW8	115910992	1.000000	0.71417	0.945000	0.38365	0.831000	0.47069	6.665000	0.74442	2.806000	0.96561	0.655000	0.94253	GAC	FBXW8	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like		0.512	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	G	NM_012174		117426609	1	no_errors	ENST00000309909	ensembl	human	known	70_37	missense	SNP	0.997	A	A	117426609	G	A	117426609	3	1	11	1	0	0	0	0	1	0	0	0	5788	942	33	1	1200	1	FBXW8	12	117426609	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	4072287	117426609	16425286	88	1302										
SFRS5	6430	genome.wustl.edu	37	chr14	70234911	70234911	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	attcatcgggagactaaatcCagcggccagggagaaggacg	14	9	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:70234911C>G	ENST00000553521.1	+	3	1491	c.38C>G	c.(37-39)cCa>cGa	p.P13R	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Missense_Mutation_p.P13R|SRSF5_ENST00000553548.1_Missense_Mutation_p.P13R|SRSF5_ENST00000394366.2_Missense_Mutation_p.P13R|SRSF5_ENST00000553635.1_Missense_Mutation_p.P13R|SRSF5_ENST00000554021.1_Missense_Mutation_p.P13R|SRSF5_ENST00000451983.2_Missense_Mutation_p.P13R|SRSF5_ENST00000555349.1_Missense_Mutation_p.P13R			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AGACTAAATCCAGCGGCCAGG	0.428																																																	0													124	134	131					14																	70234911		2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.38C>G	14.37:g.70234911C>G	ENSP00000452123:p.Pro13Arg		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P13R	ENST00000553521.1	37	c.38	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917366	0.52546	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048219	0.85682	D	0.000000	T	0.25121	0.0610	L	0.35593	1.075	0.80722	D	1	B;B;D	0.56521	0.074;0.012;0.976	B;B;P	0.53988	0.039;0.115;0.739	T	0.00516	-1.1694	10	0.26408	T	0.33	.	19.212	0.93760	0.0:1.0:0.0:0.0	.	13;13;13	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	R	13	ENSP00000452123:P13R;ENSP00000377892:P13R;ENSP00000452400:P13R;ENSP00000452449:P13R;ENSP00000451088:P13R;ENSP00000402734:P13R;ENSP00000451391:P13R;ENSP00000452090:P13R;ENSP00000450918:P13R	ENSP00000377892:P13R	P	+	2	0	SRSF5	69304664	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	5.927000	0.70080	2.778000	0.95560	0.655000	0.94253	CCA	SRSF5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.428	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	C	NM_001039465		70234911	1	no_errors	ENST00000451983	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70234911	C	G	70234911	3	3	11	1	0	0	0	0	1	0	0	0	14210	594	21	4	40	4	SFRS5	14	70234911	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		70234911	37114629	89	1303										
SPTLC2	9517	genome.wustl.edu	37	chr14	77978688	77978688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgtccagtagaggtaccaacCgatgacgggaatacttcagc	11	10	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:77978688C>T	ENST00000216484.2	-	12	1821	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	543					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.R543L(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGTACCAACCGATGACGGGA	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											164	144	151					14																	77978688		2203	4300	6503	SO:0001583	missense	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1628G>A	14.37:g.77978688C>T	ENSP00000216484:p.Arg543Gln		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R543Q	ENST00000216484.2	37	c.1628	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570954	0.65765	.	.	ENSG00000100596	ENST00000216484	D	0.95069	-3.6	5.56	5.56	0.83823	.	0.268920	0.36002	N	0.002852	D	0.83064	0.5173	N	0.08118	0	0.48185	D	0.999607	P	0.42620	0.785	B	0.28139	0.086	D	0.84162	0.0429	10	0.13853	T	0.58	-13.3986	12.8661	0.57939	0.0:0.9254:0.0:0.0745	.	543	O15270	SPTC2_HUMAN	Q	543	ENSP00000216484:R543Q	ENSP00000216484:R543Q	R	-	2	0	SPTLC2	77048441	0.995000	0.38212	0.956000	0.39512	0.804000	0.45430	3.375000	0.52410	2.617000	0.88574	0.644000	0.83932	CGG	SPTLC2	-	NULL		0.483	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	C	NM_004863		77978688	-1	no_errors	ENST00000216484	ensembl	human	known	70_37	missense	SNP	0.995	T	T	77978688	C	T	77978688	3	4	11	1	0	0	0	0	1	0	0	0	15154	652	23	2	64	2	SPTLC2	14	77978688	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	7743777	77978688	29370852	90	1304										
SLC24A4	123041	genome.wustl.edu	37	chr14	92905693	92905693	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttgcaggctctgtatatgttCtatgccttggccatagtgtg	11	8	2	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:92905693C>G	ENST00000532405.1	+	4	559	c.333C>G	c.(331-333)ttC>ttG	p.F111L	SLC24A4_ENST00000298877.1_Missense_Mutation_p.F94L|SLC24A4_ENST00000393265.2_Missense_Mutation_p.F47L|SLC24A4_ENST00000531433.1_Missense_Mutation_p.F111L|SLC24A4_ENST00000351924.5_Missense_Mutation_p.F94L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	111					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGTATATGTTCTATGCCTTGG	0.552																																					NSCLC(10;315 435 10383 28450 38798)												0													281	227	245					14																	92905693		2203	4300	6503	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.333C>G	14.37:g.92905693C>G	ENSP00000431840:p.Phe111Leu		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.F111L	ENST00000532405.1	37	c.333	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017993	0.75275	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461	T;T;T;T;T;T	0.77750	-1.02;-0.7;-0.72;-1.12;-1.08;-0.97	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	M	0.86573	2.825	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90308	0.4335	10	0.62326	D	0.03	.	14.167	0.65483	0.0:0.9262:0.0:0.0738	.	111;47;111	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	L	47;111;111;94;94;2;2	ENSP00000376948:F47L;ENSP00000433302:F111L;ENSP00000431840:F111L;ENSP00000298877:F94L;ENSP00000337789:F94L;ENSP00000452099:F2L	ENSP00000298877:F94L	F	+	3	2	SLC24A4	91975446	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.848000	0.39309	2.466000	0.83321	0.561000	0.74099	TTC	SLC24A4	-	tigrfam_K/Na/Ca-exchanger		0.552	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	C	NM_153646		92905693	1	no_errors	ENST00000532405	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92905693	C	G	92905693	3	3	11	1	0	0	0	0	1	0	0	0	14498	912	32	1	296	1	SLC24A4	14	92905693	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	14927005	92905693	14443847	91	1305										
DEGS2	123099	genome.wustl.edu	37	chr14	100615443	100615443	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aacatgtagtgctcggccacGaagtggcccgagatggggtg	16	9	0	1	rs145891510		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																																	2	Substitution - coding silent(2)	lung(2)						G		0,4406		0,0,2203	61	73	69		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A				Silent	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.F229	ENST00000305631.5	37	c.687	CCDS9956.1	14																																																																																			DEGS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase		0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS2	HGNC	protein_coding	OTTHUMT00000414003.1	G	NM_206918		100615443	-1	no_errors	ENST00000305631	ensembl	human	known	70_37	silent	SNP	0.994	A	A	100615443	G	A	100615443	2	1	11	1	0	0	0	0	0	0	0	1	4433	1049	37	1		1	DEGS2	14	100615443	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	7709750	100615443	6734097	92	1306										
KIF26A	26153	genome.wustl.edu	37	chr14	104639437	104639437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gaggacgggcacccgcttctCcgtccgggtctcagccgtgg	15	15	2	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:104639437C>T	ENST00000423312.2	+	8	1544	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	KIF26A_ENST00000315264.7_Missense_Mutation_p.S376F	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	515	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCCGCTTCTCCGTCCGGGTC	0.701																																																	0													13	19	17					14																	104639437		2067	4168	6235	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1544C>T	14.37:g.104639437C>T	ENSP00000388241:p.Ser515Phe		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S515F	ENST00000423312.2	37	c.1544	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055372	0.75960	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76316	-1.01;-1.01	4.84	4.84	0.62591	Kinesin, motor domain (4);	.	.	.	.	D	0.89636	0.6772	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91777	0.5432	9	0.87932	D	0	.	17.9375	0.89017	0.0:1.0:0.0:0.0	.	515	Q9ULI4	KI26A_HUMAN	F	515;376	ENSP00000388241:S515F;ENSP00000325452:S376F	ENSP00000325452:S376F	S	+	2	0	KIF26A	103709190	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	5.851000	0.69481	2.223000	0.72356	0.462000	0.41574	TCC	KIF26A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104639437	1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104639437	C	T	104639437	3	4	11	1	0	0	0	0	1	0	0	0	8314	855	30	1	1574	1	KIF26A	14	104639437	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	4023994	104639437	2710103	93	1307										
RTF1	23168	genome.wustl.edu	37	chr15	41768712	41768712	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atgaagaagactcagctactGaaggaaaaggtaaggagttg	13	4	1	4			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:41768712G>A	ENST00000389629.4	+	12	1563	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	517					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTCAGCTACTGAAGGAAAAGG	0.448																																																	0													114	101	106					15																	41768712		2203	4300	6503	SO:0001819	synonymous_variant	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1551G>A	15.37:g.41768712G>A			Q96BX6	Silent	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.L517	ENST00000389629.4	37	c.1551	CCDS32200.2	15																																																																																			RTF1	-	NULL		0.448	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G	NM_015138		41768712	1	no_errors	ENST00000389629	ensembl	human	known	70_37	silent	SNP	0.723	A	A	41768712	G	A	41768712	2	1	11	1	0	0	0	0	0	0	0	1	13751	1277	45	1		1	RTF1	15	41768712	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		41768712	60762680	94	1308										
NEDD4	4734	genome.wustl.edu	37	chr15	56155208	56155208	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctcttcccaccctggaggtaGaggagaaggttcttgttgtt	12	9	2	2	rs571063108	byFrequency	TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:56155208G>C	ENST00000508342.1	-	5	2133	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	NEDD4_ENST00000435532.3_Missense_Mutation_p.L193V|NEDD4_ENST00000338963.2_Missense_Mutation_p.L540V|NEDD4_ENST00000506154.1_Missense_Mutation_p.L596V	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	612	Mediates interaction with TNIK. {ECO:0000250}.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTGGAGGTAGAGGAGAAGGT	0.463																																																	0													155	141	146					15																	56155208		2193	4292	6485	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1834C>G	15.37:g.56155208G>C	ENSP00000424827:p.Leu612Val		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.L612V	ENST00000508342.1	37	c.1834		15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205182	0.79127	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.56	5.56	0.83823	WW/Rsp5/WWP (5);	0.225703	0.38381	N	0.001712	D	0.96583	0.8885	H	0.99211	4.47	0.48341	D	0.99963	D;P;P;D	0.69078	0.994;0.918;0.927;0.997	D;P;P;D	0.68765	0.913;0.668;0.842;0.96	D	0.98192	1.0463	10	0.72032	D	0.01	.	18.5251	0.90969	0.0:0.0:1.0:0.0	.	596;193;612;540	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	V	612;193;540;596	ENSP00000424827:L612V;ENSP00000410613:L193V;ENSP00000345530:L540V;ENSP00000422705:L596V	ENSP00000345530:L540V	L	-	1	2	NEDD4	53942500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.852000	0.62904	2.610000	0.88304	0.557000	0.71058	CTA	NEDD4	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.463	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	G	NM_198400		56155208	-1	no_errors	ENST00000508342	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56155208	G	C	56155208	3	2	11	1	0	0	0	0	1	0	0	0	10334	933	33	1	2209	1	NEDD4	15	56155208	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	14386496	56155208	46376184	95	1309										
DAPK2	23604	genome.wustl.edu	37	chr15	64204182	64204182	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttgcacagggacacgatgctGaaggaaagctgagggaggca	16	7	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:64204182G>A	ENST00000457488.1	-	11	987	c.957C>T	c.(955-957)ttC>ttT	p.F319F	DAPK2_ENST00000261891.3_Silent_p.F319F	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	319	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACACGATGCTGAAGGAAAGCT	0.597																																																	0													63	49	54					15																	64204182		2203	4300	6503	SO:0001819	synonymous_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.957C>T	15.37:g.64204182G>A			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F319	ENST00000457488.1	37	c.957	CCDS10188.1	15																																																																																			DAPK2	-	superfamily_Kinase-like_dom		0.597	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	G	NM_014326		64204182	-1	no_errors	ENST00000261891	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64204182	G	A	64204182	2	1	11	1	0	0	0	0	0	0	0	1	4241	1281	45	1		1	DAPK2	15	64204182	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	8048974	64204182	38327210	96	1310										
KIAA1024	23251	genome.wustl.edu	37	chr15	79750330	79750330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acggaagctggaatccctgtCgggtgtccgtgatgaaatct	13	9	1	2	rs556179640	byFrequency	TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:79750330C>T	ENST00000305428.3	+	2	1916	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	614						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAATCCCTGTCGGGTGTCCGT	0.498													C|||	3	0.000599042	0	0	5008	,	,		21833	0		0	False		,,,				2504	0.0031																0													76	71	72					15																	79750330		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1841C>T	15.37:g.79750330C>T	ENSP00000307461:p.Ser614Leu		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.S614L	ENST00000305428.3	37	c.1841	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971690	0.53614	.	.	ENSG00000169330	ENST00000305428	T	0.37411	1.2	5.6	4.68	0.58851	.	0.347006	0.30840	N	0.008766	T	0.36248	0.0960	M	0.62723	1.935	0.24581	N	0.993875	B	0.19583	0.037	B	0.14023	0.01	T	0.19484	-1.0304	9	.	.	.	.	14.2179	0.65805	0.0:0.9278:0.0:0.0722	.	614	Q9UPX6	K1024_HUMAN	L	614	ENSP00000307461:S614L	.	S	+	2	0	KIAA1024	77537385	0.997000	0.39634	0.077000	0.20336	0.934000	0.57294	3.610000	0.54125	1.350000	0.45770	0.591000	0.81541	TCG	KIAA1024	-	NULL		0.498	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	C	NM_015206		79750330	1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.224	T	T	79750330	C	T	79750330	3	4	11	1	0	0	0	0	1	0	0	0	8225	893	31	1	1843	1	KIAA1024	15	79750330	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	15546148	79750330	22781062	97	1311										
ANPEP	290	genome.wustl.edu	37	chr15	90347826	90347826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cgtggcccgccgcaatggcaCtgggccgggcccagatccgg	16	16	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:90347826C>T	ENST00000300060.6	-	5	1233	c.920G>A	c.(919-921)aGt>aAt	p.S307N	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	307	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CGCAATGGCACTGGGCCGGGC	0.612																																					NSCLC(30;827 977 2459 19669 26125)												0													61	67	65					15																	90347826		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.920G>A	15.37:g.90347826C>T	ENSP00000300060:p.Ser307Asn		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S307N	ENST00000300060.6	37	c.920	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	13.21	2.167958	0.38315	.	.	ENSG00000166825	ENST00000300060	T	0.04706	3.57	4.87	-1.78	0.07957	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.983219	0.08352	N	0.959157	T	0.02688	0.0081	N	0.16166	0.38	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.47787	-0.9090	10	0.27082	T	0.32	.	4.3691	0.11239	0.0:0.2185:0.3394:0.4421	.	307	P15144	AMPN_HUMAN	N	307	ENSP00000300060:S307N	ENSP00000300060:S307N	S	-	2	0	ANPEP	88148830	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	0.692000	0.25482	-0.167000	0.10871	0.313000	0.20887	AGT	ANPEP	-	pfam_Peptidase_M1_N		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	C			90347826	-1	no_errors	ENST00000300060	ensembl	human	known	70_37	missense	SNP	0.010	T	T	90347826	C	T	90347826	3	4	11	1	0	0	0	0	1	0	0	0	710	565	20	4	2051	4	ANPEP	15	90347826	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	10597496	90347826	12183566	98	1312										
TSC2	7249	genome.wustl.edu	37	chr16	2137872	2137872	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttgtccgggcagggccagttCaactttgtccacgtgatcgt	12	11	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:2137872C>G	ENST00000219476.3	+	39	5628	c.4998C>G	c.(4996-4998)ttC>ttG	p.F1666L	TSC2_ENST00000568454.1_Missense_Mutation_p.F1610L|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000401874.2_Missense_Mutation_p.F1599L|TSC2_ENST00000382538.6_Missense_Mutation_p.F1551L|TSC2_ENST00000350773.4_Missense_Mutation_p.F1643L|TSC2_ENST00000353929.4_Missense_Mutation_p.F1623L|TSC2_ENST00000439673.2_Missense_Mutation_p.F1563L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1666	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGGCCAGTTCAACTTTGTCC	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													68	47	54					16																	2137872		2195	4297	6492	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4998C>G	16.37:g.2137872C>G	ENSP00000219476:p.Phe1666Leu		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.F1666L	ENST00000219476.3	37	c.4998	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261276	0.80246	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	4.59	4.59	0.56863	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.89904	3.07	0.80722	D	1	D;D;D;P;D;D;D	0.65815	0.983;0.988;0.988;0.877;0.979;0.979;0.995	D;D;D;P;D;D;D	0.79108	0.992;0.981;0.992;0.78;0.986;0.986;0.989	D	0.97924	1.0316	10	0.52906	T	0.07	-34.5885	11.9415	0.52903	0.0:0.9154:0.0:0.0846	.	1551;1563;1643;441;1622;1599;1666	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	L	1666;1600;1623;1563;1551;1643	ENSP00000219476:F1666L;ENSP00000248099:F1623L;ENSP00000399232:F1563L;ENSP00000371978:F1551L;ENSP00000344383:F1643L	ENSP00000219476:F1666L	F	+	3	2	TSC2	2077873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.251000	0.43187	2.099000	0.63709	0.467000	0.42956	TTC	TSC2	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2137872	1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2137872	C	G	2137872	3	3	11	1	0	0	0	0	1	0	0	0	16637	825	29	1	5148	1	TSC2	16	2137872	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		2137872	88216881	99	1313										
E4F1	1877	genome.wustl.edu	37	chr16	2283533	2283533	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctccggcatcgtccttgagcGcgctgctggggaggagggtg	18	11	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:2283533G>C	ENST00000301727.4	+	8	1199	c.1151G>C	c.(1150-1152)cGc>cCc	p.R384P	E4F1_ENST00000564139.1_Missense_Mutation_p.R384P|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	384	Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GTCCTTGAGCGCGCTGCTGGG	0.706																																																	0													11	13	12					16																	2283533		2178	4280	6458	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1151G>C	16.37:g.2283533G>C	ENSP00000301727:p.Arg384Pro		A8K2R4|O00146	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R384P	ENST00000301727.4	37	c.1151	CCDS32370.1	16	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311491	0.23821	.	.	ENSG00000167967	ENST00000301727	T	0.06933	3.24	5.06	5.06	0.68205	.	0.168222	0.46442	D	0.000286	T	0.24044	0.0582	L	0.56769	1.78	0.21355	N	0.999712	D	0.71674	0.998	D	0.79108	0.992	T	0.01935	-1.1244	10	0.87932	D	0	-21.4991	12.8323	0.57752	0.0:0.1645:0.8355:0.0	.	384	Q66K89	E4F1_HUMAN	P	384	ENSP00000301727:R384P	ENSP00000301727:R384P	R	+	2	0	E4F1	2223534	0.885000	0.30320	0.915000	0.36163	0.348000	0.29142	2.217000	0.42880	2.374000	0.81015	0.448000	0.29417	CGC	E4F1	-	NULL		0.706	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	G	NM_004424		2283533	1	no_errors	ENST00000301727	ensembl	human	known	70_37	missense	SNP	0.245	C	C	2283533	G	C	2283533	3	2	11	1	0	0	0	0	1	0	0	0	4884	1087	38	2	1181	2	E4F1	16	2283533	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	145661	2283533	88071220	100	1314										
USP7	7874	genome.wustl.edu	37	chr16	9024213	9024213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggccacattcccattgatcaCagggttctgagtaattcttg	9	10	3	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:9024213C>A	ENST00000344836.4	-	2	319	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	USP7_ENST00000535863.1_5'UTR|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Missense_Mutation_p.V25L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	41	Interaction with TSPYL5.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCATTGATCACAGGGTTCTGA	0.488																																																	0													175	123	140					16																	9024213		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.121G>T	16.37:g.9024213C>A	ENSP00000343535:p.Val41Leu		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.V41L	ENST00000344836.4	37	c.121	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004190	0.93287	.	.	ENSG00000187555	ENST00000344836;ENST00000381886	T	0.06687	3.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.36915	-0.9728	10	0.27785	T	0.31	.	19.5934	0.95525	0.0:1.0:0.0:0.0	.	41;25	Q93009;B7Z815	UBP7_HUMAN;.	L	41;49	ENSP00000343535:V41L	ENSP00000343535:V41L	V	-	1	0	USP7	8931714	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.980000	0.70516	2.635000	0.89317	0.467000	0.42956	GTG	USP7	-	NULL		0.488	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	C			9024213	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9024213	C	A	9024213	3	1	11	1	0	0	0	0	1	0	0	0	17119	478	17	4	3307	4	USP7	16	9024213	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	6740680	9024213	81330540	101	1315										
MYH11	4629	genome.wustl.edu	37	chr16	15814153	15814153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttcgctcgtcttccagttccGtctcatactcgtgaagctgg	9	13	2	1	rs376105806		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:15814153G>A	ENST00000300036.5	-	34	4917	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.T1610M|MYH11_ENST00000576790.2_Missense_Mutation_p.T1603M|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.T1610M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1603					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTCCAGTTCCGTCTCATACTC	0.592			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													80	65	70					16																	15814153		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4808C>T	16.37:g.15814153G>A	ENSP00000300036:p.Thr1603Met		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1610M	ENST00000300036.5	37	c.4829	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195436	0.58126	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.04	5.04	0.67666	Myosin tail (1);	0.116899	0.56097	D	0.000022	T	0.78502	0.4293	L	0.39245	1.2	0.80722	D	1	B;B;B;B;B	0.26483	0.15;0.15;0.15;0.15;0.15	B;B;B;B;B	0.22753	0.041;0.041;0.041;0.041;0.041	T	0.77651	-0.2508	10	0.87932	D	0	.	17.3843	0.87412	0.0:0.0:1.0:0.0	.	1610;1603;1610;1603;1610	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	M	1603;1603;1610;1610;1610	ENSP00000300036:T1603M;ENSP00000345136:T1603M;ENSP00000379616:T1610M;ENSP00000407821:T1610M	ENSP00000300036:T1603M	T	-	2	0	MYH11	15721654	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	5.708000	0.68377	2.346000	0.79739	0.650000	0.86243	ACG	MYH11	-	pfam_Myosin_tail		0.592	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	G	NM_001040113		15814153	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15814153	G	A	15814153	3	1	11	1	0	0	0	0	1	0	0	0	10054	1145	40	2	1177	2	MYH11	16	15814153	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	6789940	15814153	74540600	102	1316										
CDR2	1039	genome.wustl.edu	37	chr16	22359077	22359077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	caagtgctcattttcctcttCatcagggcttggctgacctt	8	12	4	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:22359077C>G	ENST00000268383.2	-	5	881	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	192						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTTTCCTCTTCATCAGGGCTT	0.453																																																	0													118	106	110					16																	22359077		2197	4300	6497	SO:0001583	missense	1039			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.574G>C	16.37:g.22359077C>G	ENSP00000268383:p.Glu192Gln		A8K8A8|Q13977	Missense_Mutation	SNP	NULL	p.E192Q	ENST00000268383.2	37	c.574	CCDS32404.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125296	0.77436	.	.	ENSG00000140743	ENST00000268383	T	0.30182	1.54	5.58	5.58	0.84498	.	0.225081	0.43919	D	0.000513	T	0.47691	0.1459	L	0.58583	1.82	0.58432	D	0.999993	D	0.61080	0.989	P	0.55923	0.787	T	0.23048	-1.0199	10	0.34782	T	0.22	-7.4963	19.5747	0.95438	0.0:1.0:0.0:0.0	.	192	Q01850	CDR2_HUMAN	Q	192	ENSP00000268383:E192Q	ENSP00000268383:E192Q	E	-	1	0	CDR2	22266578	1.000000	0.71417	0.356000	0.25785	0.650000	0.38633	5.299000	0.65716	2.618000	0.88619	0.655000	0.94253	GAA	CDR2	-	NULL		0.453	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	C			22359077	-1	no_errors	ENST00000268383	ensembl	human	known	70_37	missense	SNP	0.984	G	G	22359077	C	G	22359077	3	3	11	1	0	0	0	0	1	0	0	0	3177	835	29	1	794	1	CDR2	16	22359077	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	6544924	22359077	67995676	103	1317										
TNRC6A	27327	genome.wustl.edu	37	chr16	24788506	24788506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcctcgtgaagtacctccacGatttcgccaccaggaacaca	7	15	0	1	rs563907833		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:24788506G>A	ENST00000395799.3	+	5	545	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R139Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	139	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTACCTCCACGATTTCGCCAC	0.557													G|||	1	0.000199681	0	0	5008	,	,		16772	0		0	False		,,,				2504	0.001																0													95	106	102					16																	24788506		2184	4295	6479	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.416G>A	16.37:g.24788506G>A	ENSP00000379144:p.Arg139Gln		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.R139Q	ENST00000395799.3	37	c.416	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513715	0.64522	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.18810	2.19;2.2	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000060	T	0.17789	0.0427	L	0.43923	1.385	0.80722	D	1	B	0.34061	0.436	B	0.21917	0.037	T	0.01648	-1.1304	10	0.56958	D	0.05	-6.7832	13.5351	0.61643	0.0709:0.0:0.9291:0.0	.	139	Q8NDV7	TNR6A_HUMAN	Q	139	ENSP00000326900:R139Q;ENSP00000379144:R139Q	ENSP00000326900:R139Q	R	+	2	0	TNRC6A	24696007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.867000	0.69597	2.814000	0.96858	0.591000	0.81541	CGA	TNRC6A	-	NULL		0.557	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	G	NM_020847		24788506	1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24788506	G	A	24788506	3	1	11	1	0	0	0	0	1	0	0	0	16370	1058	37	1	434	1	TNRC6A	16	24788506	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	2429429	24788506	65566247	104	1318										
ZNF768	79724	genome.wustl.edu	37	chr16	30536174	30536174	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttgccgcactcagggcacttGaagggcttctcccgggcgtg	14	13	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:30536174G>C	ENST00000380412.5	-	2	1462	c.1287C>G	c.(1285-1287)ttC>ttG	p.F429L	ZNF768_ENST00000562803.1_Missense_Mutation_p.F398L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	429					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAGGGCACTTGAAGGGCTTCT	0.692																																																	0													24	26	25					16																	30536174		2196	4298	6494	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1287C>G	16.37:g.30536174G>C	ENSP00000369777:p.Phe429Leu		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F429L	ENST00000380412.5	37	c.1287	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508875	0.64410	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.21932	1.98	4.72	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000724	T	0.33381	0.0861	L	0.60957	1.885	0.33502	D	0.590107	D	0.56746	0.977	P	0.60012	0.867	T	0.46076	-0.9217	10	0.87932	D	0	-2.921	8.4774	0.33021	0.3344:0.0:0.6656:0.0	.	429	Q9H5H4	ZN768_HUMAN	L	429;342	ENSP00000369777:F429L	ENSP00000369777:F429L	F	-	3	2	ZNF768	30443675	0.403000	0.25319	1.000000	0.80357	0.994000	0.84299	2.103000	0.41806	0.220000	0.20860	0.436000	0.28706	TTC	ZNF768	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.692	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	G	NM_024671		30536174	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30536174	G	C	30536174	3	2	11	1	0	0	0	0	1	0	0	0	18171	1281	45	1	339	1	ZNF768	16	30536174	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	5747668	30536174	59818579	105	1319										
CNOT1	23019	genome.wustl.edu	37	chr16	58577399	58577399	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	agacatcaaacaaatatggtGattattaagaataagtggta	8	3	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:58577399G>A	ENST00000317147.5	-	31	4767				CNOT1_ENST00000441024.2_Missense_Mutation_p.H1516Y|CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		caaatatggtgattattaaga	0.308																																																	0													41	47	45					16																	58577399		1270	2282	3552	SO:0001627	intron_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+111C>T	16.37:g.58577399G>A			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H1516Y	ENST00000317147.5	37	c.4546	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018271	0.19355	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	3.11	-0.256	0.12984	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	8	0.87932	D	0	.	3.5485	0.07837	0.2593:0.2108:0.5299:0.0	.	1516	A5YKK6-4	.	Y	1516	ENSP00000413113:H1516Y	ENSP00000413113:H1516Y	H	-	1	0	CNOT1	57134900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.578000	0.00908	-0.119000	0.11830	-0.225000	0.12378	CAC	CNOT1	-	NULL		0.308	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	G	NM_016284		58577399	-1	no_errors	ENST00000441024	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58577399	G	A	58577399	1	1	11	0	1	0	0	0	0	0	0	0	3622	1290	45	1		1	CNOT1	16	58577399	Intron	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	28041225	58577399	31777354	106	1320										
PDP2	57546	genome.wustl.edu	37	chr16	66919167	66919167	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aaagagggagcaccctgagtCagaggacaggacgatcatca	13	9	3	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:66919167C>T	ENST00000311765.2	+	2	1314	c.980C>T	c.(979-981)tCa>tTa	p.S327L	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	327					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CACCCTGAGTCAGAGGACAGG	0.572																																																	0													73	69	70					16																	66919167		2200	4300	6500	SO:0001583	missense	57546			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.980C>T	16.37:g.66919167C>T	ENSP00000309548:p.Ser327Leu		A8K924	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S327L	ENST00000311765.2	37	c.980	CCDS10822.1	16	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559598	0.65538	.	.	ENSG00000172840	ENST00000311765	T	0.14766	2.48	5.92	5.92	0.95590	Protein phosphatase 2C-like (5);	0.141443	0.48767	D	0.000162	T	0.27900	0.0687	L	0.49778	1.585	0.53688	D	0.999971	P	0.35894	0.526	P	0.47705	0.555	T	0.00286	-1.1847	10	0.54805	T	0.06	-4.2472	20.3241	0.98686	0.0:1.0:0.0:0.0	.	327	Q9P2J9	PDP2_HUMAN	L	327	ENSP00000309548:S327L	ENSP00000309548:S327L	S	+	2	0	PDP2	65476668	0.872000	0.30054	0.988000	0.46212	0.699000	0.40488	3.706000	0.54830	2.812000	0.96745	0.563000	0.77884	TCA	PDP2	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.572	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDP2	HGNC	protein_coding	OTTHUMT00000268831.2	C	NM_020786		66919167	1	no_errors	ENST00000311765	ensembl	human	known	70_37	missense	SNP	0.980	T	T	66919167	C	T	66919167	3	4	11	1	0	0	0	0	1	0	0	0	11710	838	29	1	982	1	PDP2	16	66919167	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	8341768	66919167	23435586	107	1321										
EVI2B	2124	genome.wustl.edu	37	chr17	29631855	29631855	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttgtggatatttcattttctCtgatgttatccatacaaatg	6	6	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:29631855C>T	ENST00000330927.4	-	2	927	c.773G>A	c.(772-774)aGa>aAa	p.R258K	EVI2B_ENST00000577894.1_Missense_Mutation_p.R258K|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.R273K	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	258						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATTTTCTCTGATGTTATC	0.363																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											101	96	98					17																	29631855		2203	4300	6503	SO:0001583	missense	2124				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.773G>A	17.37:g.29631855C>T	ENSP00000333779:p.Arg258Lys		B7Z4A7	Missense_Mutation	SNP	NULL	p.R273K	ENST00000330927.4	37	c.818	CCDS11266.1	17	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926110	0.73327	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.61274	0.13;0.12	5.4	4.43	0.53597	.	0.000000	0.51477	D	0.000084	T	0.37758	0.1015	L	0.32530	0.975	0.51482	D	0.999927	P;B	0.36144	0.539;0.297	B;B	0.33799	0.17;0.112	T	0.25572	-1.0128	10	0.30078	T	0.28	-22.2515	2.241	0.04020	0.2516:0.4693:0.1278:0.1513	.	273;258	B7Z4A7;P34910	.;EVI2B_HUMAN	K	258;273	ENSP00000333779:R258K;ENSP00000439738:R273K	ENSP00000333779:R258K	R	-	2	0	EVI2B	26655981	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	1.298000	0.33412	1.282000	0.44496	0.591000	0.81541	AGA	EVI2B	-	NULL		0.363	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI2B	HGNC	protein_coding	OTTHUMT00000256349.2	C	NM_006495		29631855	-1	no_errors	ENST00000544462	ensembl	human	known	70_37	missense	SNP	0.732	T	T	29631855	C	T	29631855	3	4	11	1	0	0	0	0	1	0	0	0	5300	913	32	1	577	1	EVI2B	17	29631855	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		29631855	51563355	108	1322										
SCN4A	6329	genome.wustl.edu	37	chr17	62020421	62020421	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtgatgtcgaaggcctgcttCgtcacgaggtcatacaccat	11	11	2	1	rs376395544		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:62020421C>T	ENST00000435607.1	-	23	4129	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	SCN4A_ENST00000578147.1_Silent_p.T1351T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1351					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGCCTGCTTCGTCACGAGGT	0.562																																																	0								C		0,4406		0,0,2203	218	198	205		4053	-7.7	0.2	17		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN4A	NM_000334.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1351/1837	62020421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4053G>A	17.37:g.62020421C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.T1351	ENST00000435607.1	37	c.4053	CCDS45761.1	17																																																																																			SCN4A	-	NULL		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62020421	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	0.453	T	T	62020421	C	T	62020421	2	4	11	1	0	0	0	0	0	0	0	1	13950	871	31	1		1	SCN4A	17	62020421	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	32388566	62020421	19174789	109	1323										
DNAH17	8632	genome.wustl.edu	37	chr17	76501504	76501504	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	agtttacacaggctatcgaaGagtttggacaggtggcggct	14	7	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:76501504G>C	ENST00000585328.1	-	31	4942	c.4818C>G	c.(4816-4818)ctC>ctG	p.L1606L	DNAH17_ENST00000389840.5_Silent_p.L1605L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1605	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			GGCTATCGAAGAGTTTGGACA	0.547																																																	0													72	70	71					17																	76501504		2006	4168	6174	SO:0001819	synonymous_variant	8632			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.4818C>G	17.37:g.76501504G>C			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L1605	ENST00000585328.1	37	c.4815		17																																																																																			DNAH17	-	pfam_Dynein_heavy_dom-2		0.547	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76501504	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.973	C	C	76501504	G	C	76501504	2	2	11	1	0	0	0	0	0	0	0	1	4611	929	33	1		1	DNAH17	17	76501504	Silent	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	14481083	76501504	4693706	110	1324										
CEP192	55125	genome.wustl.edu	37	chr18	13099491	13099491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aaaggagtaaactacaaattCttgtgagtcctaattcctcc	6	9	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:13099491C>T	ENST00000325971.8	+	35	6379	c.4786C>T	c.(4786-4788)Ctt>Ttt	p.L1596F	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.L2192F|CEP192_ENST00000430049.2_Missense_Mutation_p.L1717F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1596					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTACAAATTCTTGTGAGTCC	0.338																																																	0													92	90	91					18																	13099491		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4786C>T	18.37:g.13099491C>T	ENSP00000317156:p.Leu1596Phe		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.L2192F	ENST00000325971.8	37	c.6574		18	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734565	0.89482	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.14022	2.56;2.54;2.57	5.66	5.66	0.87406	.	0.147861	0.45867	D	0.000328	T	0.37156	0.0993	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;P;D;D	0.79784	0.993;0.855;0.993;0.988	T	0.01228	-1.1412	10	0.45353	T	0.12	-22.4564	19.3367	0.94322	0.0:1.0:0.0:0.0	.	1717;2192;196;794	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	F	2192;1596;1596;1717;196	ENSP00000427550:L2192F;ENSP00000317156:L1596F;ENSP00000389190:L1717F	ENSP00000317156:L1596F	L	+	1	0	CEP192	13089491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	2.674000	0.91012	0.650000	0.86243	CTT	CEP192	-	NULL		0.338	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13099491	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13099491	C	T	13099491	3	4	11	1	0	0	0	0	1	0	0	0	3256	913	32	1	6716	1	CEP192	18	13099491	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		13099491	64977757	111	1325										
ROCK1	6093	genome.wustl.edu	37	chr18	18539802	18539802	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcaatcaaaggcaacttactCtatgtccaataccatagatg	5	10	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:18539802C>G	ENST00000399799.2	-	29	4451	c.3511G>C	c.(3511-3513)Gat>Cat	p.D1171H		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1171	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCAACTTACTCTATGTCCAAT	0.289																																																	0													58	53	55					18																	18539802		2202	4299	6501	SO:0001630	splice_region_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3512+1G>C	18.37:g.18539802C>G			B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D1171H	ENST00000399799.2	37	c.3511	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813450	0.90790	.	.	ENSG00000067900	ENST00000399799	T	0.76316	-1.01	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.90829	0.4715	10	0.72032	D	0.01	.	19.0133	0.92882	0.0:1.0:0.0:0.0	.	1171	Q13464	ROCK1_HUMAN	H	1171	ENSP00000382697:D1171H	ENSP00000382697:D1171H	D	-	1	0	ROCK1	16793800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.555000	0.86185	0.536000	0.68110	GAT	ROCK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology		0.289	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	C	NM_005406	Missense_Mutation	18539802	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18539802	C	G	18539802	5	3	11	1	0	0	0	0	0	0	1	0	13547	927	32	1	573	1	ROCK1	18	18539802	Splice_Site	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	5440311	18539802	59537446	112	1326										
SNRPD1	6632	genome.wustl.edu	37	chr18	19192399	19192399	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggcgccgctaggatgaagctCgtgaggtgagggagtgacca	18	8	0	4	rs139445414		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:19192399C>G	ENST00000300413.5	+	1	172	c.9C>G	c.(7-9)ctC>ctG	p.L3L	SNRPD1_ENST00000582475.1_5'UTR|SNRPD1_ENST00000579618.1_Silent_p.L3L	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	3	Sufficient for interaction with CLNS1A.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L3L(1)		lung(2)|prostate(1)	3						GGATGAAGCTCGTGAGGTGAG	0.622											OREG0024889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	prostate(1)											192	206	201					18																	19192399		2203	4300	6503	SO:0001819	synonymous_variant	6632			L36188	CCDS32801.1	18q11.2	2011-10-11	2002-08-29		ENSG00000167088	ENSG00000167088			11158	protein-coding gene	gene with protein product		601063	"small nuclear ribonucleoprotein D1 polypeptide (16kD)"	SNRPD		7527560, 1701240	Standard	NM_006938		Approved	HsT2456, Sm-D1	uc002ktj.1	P62314		ENST00000300413.5:c.9C>G	18.37:g.19192399C>G		731	B5BTZ1|P13641	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.L3	ENST00000300413.5	37	c.9	CCDS32801.1	18																																																																																			SNRPD1	-	superfamily_LSM_dom		0.622	SNRPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD1	HGNC	protein_coding	OTTHUMT00000444020.2	C	NM_006938		19192399	1	no_errors	ENST00000300413	ensembl	human	known	70_37	silent	SNP	0.998	G	G	19192399	C	G	19192399	2	3	11	1	0	0	0	0	0	0	0	1	14894	871	31	1		1	SNRPD1	18	19192399	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	652597	19192399	58884849	113	1327										
ASXL3	80816	genome.wustl.edu	37	chr18	31323474	31323474	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gaaaattgtttcatctacctCttctgaaaatagcagtgtgc	7	8	4	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:31323474C>G	ENST00000269197.5	+	12	3662	c.3662C>G	c.(3661-3663)tCt>tGt	p.S1221C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1221	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCATCTACCTCTTCTGAAAAT	0.378																																																	0													79	72	74					18																	31323474		1833	4088	5921	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3662C>G	18.37:g.31323474C>G	ENSP00000269197:p.Ser1221Cys		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S1221C	ENST00000269197.5	37	c.3662	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423940	0.62733	.	.	ENSG00000141431	ENST00000269197	T	0.59083	0.29	5.68	5.68	0.88126	.	0.813352	0.11037	N	0.606509	T	0.71247	0.3317	L	0.32530	0.975	0.44337	D	0.997223	D	0.89917	1.0	D	0.85130	0.997	T	0.70008	-0.4990	10	0.66056	D	0.02	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	1221	Q9C0F0	ASXL3_HUMAN	C	1221	ENSP00000269197:S1221C	ENSP00000269197:S1221C	S	+	2	0	ASXL3	29577472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.677000	0.68142	2.689000	0.91719	0.655000	0.94253	TCT	ASXL3	-	NULL		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	C			31323474	1	no_errors	ENST00000269197	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31323474	C	G	31323474	3	3	11	1	0	0	0	0	1	0	0	0	1069	913	32	1	3708	1	ASXL3	18	31323474	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	12131075	31323474	46753774	114	1328										
C18orf21	83608	genome.wustl.edu	37	chr18	33554887	33554887	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	agcacttttgaagaaacgtgTccatactgtttccagctgtt	8	9	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:33554887T>G	ENST00000592875.1	+	3	775	c.129T>G	c.(127-129)tgT>tgG	p.C43W	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	43										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAGAAACGTGTCCATACTGTT	0.368																																																	0													92	96	94					18																	33554887		2203	4300	6503	SO:0001583	missense	83608			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.129T>G	18.37:g.33554887T>G	ENSP00000465517:p.Cys43Trp		Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	NULL	p.C43W	ENST00000592875.1	37	c.129	CCDS11916.2	18	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262462	0.59431	.	.	ENSG00000141428	ENST00000333234	.	.	.	4.99	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73023	-0.4113	9	0.87932	D	0	-0.6806	6.727	0.23363	0.0:0.187:0.0:0.813	.	43	Q32NC0	CR021_HUMAN	W	43	.	ENSP00000329492:C43W	C	+	3	2	C18orf21	31808885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.152000	0.31663	0.855000	0.35359	0.528000	0.53228	TGT	C18orf21	-	NULL		0.368	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf21	HGNC	protein_coding	OTTHUMT00000250364.1	T	NM_031446		33554887	1	no_errors	ENST00000592875	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33554887	T	G	33554887	3	3	11	1	0	0	0	0	1	0	0	0	1902	1673	58	5	139	5	C18orf21	18	33554887	Missense_Mutation	SNP	T	TCGA-C5-A1BM-01A-11D-A13W-08	2231413	33554887	44522361	115	1329										
DIRAS1	148252	genome.wustl.edu	37	chr19	2717432	2717432	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtccacctcccgctgcgtctCatcgcacttgttgcccacga	8	18	1	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:2717432C>T	ENST00000323469.4	-	2	556	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DIRAS1_ENST00000585334.1_Missense_Mutation_p.E125K	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	125					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGCGTCTCATCGCACTTG	0.622																																																	0													76	63	67					19																	2717432		2202	4300	6502	SO:0001583	missense	148252			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.373G>A	19.37:g.2717432C>T	ENSP00000325836:p.Glu125Lys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E125K	ENST00000323469.4	37	c.373	CCDS12092.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.204214	0.95033	.	.	ENSG00000176490	ENST00000323469	T	0.68903	-0.36	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	N	0.13299	0.325	0.80722	D	1	P	0.49447	0.924	P	0.52189	0.692	T	0.64232	-0.6456	10	0.45353	T	0.12	.	14.0762	0.64891	0.0:1.0:0.0:0.0	.	125	O95057	DIRA1_HUMAN	K	125	ENSP00000325836:E125K	ENSP00000325836:E125K	E	-	1	0	DIRAS1	2668432	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.539000	0.82063	1.898000	0.54952	0.549000	0.68633	GAG	DIRAS1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS1	HGNC	protein_coding	OTTHUMT00000451350.1	C			2717432	-1	no_errors	ENST00000323469	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2717432	C	T	2717432	3	4	11	1	0	0	0	0	1	0	0	0	4540	835	29	1	227	1	DIRAS1	19	2717432	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		2717432	56411551	116	1330										
MUC16	94025	genome.wustl.edu	37	chr19	9068371	9068371	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tatcagggagaaagttgtctCagactcaatctttttcatcg	8	8	5	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:9068371C>G	ENST00000397910.4	-	3	19278	c.19075G>C	c.(19075-19077)Gag>Cag	p.E6359Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6361	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTTGTCTCAGACTCAATC	0.453																																																	0													82	75	77					19																	9068371		1902	4116	6018	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19075G>C	19.37:g.9068371C>G	ENSP00000381008:p.Glu6359Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E6359Q	ENST00000397910.4	37	c.19075	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	4.973	0.180650	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.4	-2.21	0.06973	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	B	0.12630	0.006	B	0.15870	0.014	T	0.42189	-0.9466	8	0.87932	D	0	.	6.016	0.19603	0.0:0.2553:0.5874:0.1573	.	6359	B5ME49	.	Q	6359	ENSP00000381008:E6359Q	ENSP00000381008:E6359Q	E	-	1	0	MUC16	8929371	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.204000	0.03017	-0.266000	0.09339	0.187000	0.17357	GAG	MUC16	-	NULL		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9068371	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	G	G	9068371	C	G	9068371	3	3	11	1	0	0	0	0	1	0	0	0	9996	835	29	1	24776	1	MUC16	19	9068371	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	6350939	9068371	50060612	117	1331										
ZNF791	163049	genome.wustl.edu	37	chr19	12740056	12740056	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	acatccttaaaaaaacatatGagaatgcacaatcgatagaa	5	7	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:12740056G>C	ENST00000343325.4	+	4	1875	c.1713G>C	c.(1711-1713)atG>atC	p.M571I	ZNF791_ENST00000458122.3_Missense_Mutation_p.M539I|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.M462I|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAAACATATGAGAATGCACA	0.338																																																	0													51	55	54					19																	12740056		2202	4300	6502	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1713G>C	19.37:g.12740056G>C	ENSP00000342974:p.Met571Ile		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M571I	ENST00000343325.4	37	c.1713	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	2.457	-0.325110	0.05350	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.09073	3.02;3.02;3.02	1.83	-0.854	0.10705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	L	0.33245	0.995	0.24646	N	0.993543	B	0.06786	0.001	B	0.04013	0.001	T	0.38714	-0.9648	9	0.87932	D	0	.	2.7683	0.05327	0.1714:0.0:0.3501:0.4785	.	571	Q3KP31	ZN791_HUMAN	I	571;539;462	ENSP00000342974:M571I;ENSP00000441761:M539I;ENSP00000441038:M462I	ENSP00000342974:M571I	M	+	3	0	ZNF791	12601056	0.000000	0.05858	0.137000	0.22149	0.092000	0.18411	0.166000	0.16583	-0.329000	0.08527	-0.500000	0.04577	ATG	ZNF791	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	G	NM_153358		12740056	1	no_errors	ENST00000343325	ensembl	human	known	70_37	missense	SNP	0.931	C	C	12740056	G	C	12740056	3	2	11	1	0	0	0	0	1	0	0	0	18193	1290	45	1	1727	1	ZNF791	19	12740056	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	3671685	12740056	46388927	118	1332										
CC2D1A	54862	genome.wustl.edu	37	chr19	14041055	14041055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tgaatgcccatcccccacagGatgctgcaaaggaggcgctc	11	14	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:14041055G>A	ENST00000318003.7	+	28	3029	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	CC2D1A_ENST00000589606.1_Splice_Site_p.D929N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	930					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCCCCACAGGATGCTGCAAA	0.642																																																	0													146	162	156					19																	14041055		2043	4160	6203	SO:0001630	splice_region_variant	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2788-1G>A	19.37:g.14041055G>A			Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.D930N	ENST00000318003.7	37	c.2788	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263492	0.39995	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.30714	1.52	4.36	4.36	0.52297	.	0.350785	0.25324	N	0.031495	T	0.28067	0.0692	L	0.46157	1.445	0.24311	N	0.995082	B;B;B	0.30361	0.072;0.277;0.22	B;B;B	0.32533	0.062;0.109;0.147	T	0.14504	-1.0470	9	.	.	.	-9.5822	12.3889	0.55348	0.0:0.0:1.0:0.0	.	551;929;930	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	N	930;552	ENSP00000313601:D930N	.	D	+	1	0	CC2D1A	13902055	1.000000	0.71417	0.983000	0.44433	0.165000	0.22458	7.052000	0.76634	1.980000	0.57719	0.457000	0.33378	GAT	CC2D1A	-	NULL		0.642	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721	Missense_Mutation	14041055	1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14041055	G	A	14041055	5	1	11	1	0	0	0	0	0	0	1	0	2731	1188	41	1	2898	1	CC2D1A	19	14041055	Splice_Site	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	1300999	14041055	45087928	119	1333										
CHERP	10523	genome.wustl.edu	37	chr19	16640543	16640543	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aggcgtggccttgacttcagCctccatctgcggcatctgga	12	13	3	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:16640543C>G	ENST00000198939.6	-	8	1114	c.1078G>C	c.(1078-1080)Gct>Cct	p.A360P	CHERP_ENST00000546361.2_Missense_Mutation_p.A349P|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTGACTTCAGCCTCCATCTGC	0.682																																																	0													23	30	28					19																	16640543		2197	4286	6483	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1078G>C	19.37:g.16640543C>G	ENSP00000198939:p.Ala360Pro			Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A349P	ENST00000198939.6	37	c.1045		19	.	.	.	.	.	.	.	.	.	.	C	4.952	0.176914	0.09443	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.87103	-2.21;-2.21	4.17	0.274	0.15654	.	.	.	.	.	T	0.66177	0.2763	N	0.04508	-0.205	0.09310	N	1	P	0.44578	0.838	B	0.38655	0.278	T	0.60801	-0.7191	9	0.26408	T	0.33	-4.6049	3.4715	0.07569	0.0:0.3545:0.2031:0.4424	.	349	Q8IWX8	CHERP_HUMAN	P	349;360	ENSP00000439856:A349P;ENSP00000198939:A360P	ENSP00000198939:A360P	A	-	1	0	CHERP	16501543	0.001000	0.12720	0.024000	0.17045	0.077000	0.17291	0.179000	0.16840	0.346000	0.23899	-0.224000	0.12420	GCT	CHERP	-	NULL		0.682	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	C	NM_006387		16640543	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	missense	SNP	0.000	G	G	16640543	C	G	16640543	3	3	11	1	0	0	0	0	1	0	0	0	3341	739	26	4	1745	4	CHERP	19	16640543	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	2599488	16640543	42488440	120	1334										
ZNF98	148198	genome.wustl.edu	37	chr19	22585688	22585688	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggcttagaggcagcaataccTgttttattacaaataacatg	8	7	0	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:22585688T>A	ENST00000357774.5	-	3	279		c.e3-2		ZNF98_ENST00000601553.1_Splice_Site	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGCAATACCTGTTTTATTAC	0.373																																																	0													70	73	72					19																	22585688		2169	4283	6452	SO:0001630	splice_region_variant	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.158-2A>T	19.37:g.22585688T>A				Splice_Site	SNP	-	e3-2	ENST00000357774.5	37	c.158-2	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	9.848	1.192959	0.21954	.	.	ENSG00000197360	ENST00000357774	.	.	.	0.476	0.476	0.16779	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF98	22377528	0.357000	0.24938	0.726000	0.30738	0.784000	0.44337	1.242000	0.32755	0.447000	0.26695	0.248000	0.18094	.	ZNF98	-	-		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	T	NM_001098626	Intron	22585688	-1	no_errors	ENST00000357774	ensembl	human	known	70_37	splice_site	SNP	0.741	A	A	22585688	T	A	22585688	5	1	11	1	0	0	0	0	0	0	1	0	18233	1594	55	5	1570	5	ZNF98	19	22585688	Splice_Site	SNP	T	TCGA-C5-A1BM-01A-11D-A13W-08	5945145	22585688	36543295	121	1335										
CLIP3	25999	genome.wustl.edu	37	chr19	36508769	36508769	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cctggggcaaagtctgtcttCccgtagaagcgcacgatccc	11	14	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:36508769C>T	ENST00000360535.4	-	10	1535	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G436G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	436	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTCTGTCTTCCCGTAGAAGC	0.627																																																	0													103	95	98					19																	36508769		2203	4300	6503	SO:0001819	synonymous_variant	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1308G>A	19.37:g.36508769C>T			A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.G436	ENST00000360535.4	37	c.1308	CCDS12486.1	19																																																																																			CLIP3	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain		0.627	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	C	NM_015526		36508769	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	silent	SNP	0.993	T	T	36508769	C	T	36508769	2	4	11	1	0	0	0	0	0	0	0	1	3539	842	30	1		1	CLIP3	19	36508769	Silent	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	13923081	36508769	22620214	122	1336										
MARK4	57787	genome.wustl.edu	37	chr19	45801453	45801453	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctaaccgctgtgtttcgggcGcctctctgccccagggatcc	11	16	1	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:45801453G>A	ENST00000262891.4	+	15	2208				MARK4_ENST00000300843.4_Missense_Mutation_p.A644T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4						microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTTTCGGGCGCCTCTCTGCC	0.607																																																	0													148	120	130					19																	45801453		2203	4300	6503	SO:0001627	intron_variant	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1877+241G>A	19.37:g.45801453G>A			Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A644T	ENST00000262891.4	37	c.1930	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703871	0.48412	.	.	ENSG00000007047	ENST00000300843	T	0.70986	-0.53	4.98	4.98	0.66077	.	.	.	.	.	T	0.49423	0.1556	N	0.08118	0	0.23023	N	0.99841	P	0.46327	0.876	B	0.34242	0.178	T	0.49072	-0.8977	9	0.48119	T	0.1	.	15.7546	0.78013	0.0:0.0:1.0:0.0	.	644	Q96L34-2	.	T	644	ENSP00000300843:A644T	ENSP00000300843:A644T	A	+	1	0	MARK4	50493293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.805000	0.55575	2.299000	0.77371	0.460000	0.39030	GCC	MARK4	-	NULL		0.607	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	HGNC	protein_coding	OTTHUMT00000457537.1	G	NM_031417		45801453	1	no_errors	ENST00000300843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45801453	G	A	45801453	1	1	11	0	1	0	0	0	0	0	0	0	9338	1087	38	2		2	MARK4	19	45801453	Intron	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	9292684	45801453	13327530	123	1337										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47422099	47422099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gtttcacttggaccatacctCcgtcctcagcaccagtgact	7	15	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:47422099C>T	ENST00000404338.3	+	1	167	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	56					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACCATACCTCCGTCCTCAGC	0.542																																																	0													99	103	102					19																	47422099		1991	4178	6169	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.167C>T	19.37:g.47422099C>T	ENSP00000385720:p.Ser56Phe		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S56F	ENST00000404338.3	37	c.167	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807185	0.70797	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.20332	2.08	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59994	-0.7349	10	0.87932	D	0	-23.6134	19.1078	0.93303	0.0:1.0:0.0:0.0	.	56	Q9NRY4-2	.	F	56	ENSP00000385720:S56F	ENSP00000324820:S56F	S	+	2	0	ARHGAP35	52113939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	TCC	ARHGAP35	-	NULL		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47422099	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47422099	C	T	47422099	3	4	11	1	0	0	0	0	1	0	0	0	6815	855	30	1	169	1	ARHGAP35	19	47422099	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	1620646	47422099	11706884	124	1338										
C5AR1	728	genome.wustl.edu	37	chr19	47823477	47823477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	catctggtgccagaacttccGaggggctggcttggcctgga	15	11	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:47823477G>A	ENST00000355085.3	+	2	465	c.443G>A	c.(442-444)cGa>cAa	p.R148Q		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	148					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CAGAACTTCCGAGGGGCTGGC	0.612																																																	0													74	76	75					19																	47823477		2203	4300	6503	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.443G>A	19.37:g.47823477G>A	ENSP00000347197:p.Arg148Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.R148Q	ENST00000355085.3	37	c.443	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765626	0.49574	.	.	ENSG00000197405	ENST00000355085	T	0.39229	1.09	4.67	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.63546	0.2520	M	0.89353	3.025	0.40379	D	0.979427	D	0.64830	0.994	P	0.62491	0.903	T	0.67452	-0.5667	10	0.46703	T	0.11	.	9.9838	0.41830	0.0975:0.0:0.9025:0.0	.	148	P21730	C5AR_HUMAN	Q	148	ENSP00000347197:R148Q	ENSP00000347197:R148Q	R	+	2	0	C5AR1	52515317	1.000000	0.71417	0.259000	0.24435	0.537000	0.34900	7.919000	0.87513	0.951000	0.37770	0.478000	0.44815	CGA	C5AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Frt_met_rcpt		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	G	NM_001736		47823477	1	no_errors	ENST00000355085	ensembl	human	known	70_37	missense	SNP	0.882	A	A	47823477	G	A	47823477	3	1	11	1	0	0	0	0	1	0	0	0	2286	1058	37	1	448	1	C5AR1	19	47823477	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	401378	47823477	11305506	125	1339										
SYNGR4	23546	genome.wustl.edu	37	chr19	48869139	48869139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tccaggagctggccaacagcGaagccgtgcagtttctgaga	13	11	1	1	rs201450222		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:48869139G>A	ENST00000344846.2	+	2	290	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	TMEM143_ENST00000293261.3_5'Flank|TMEM143_ENST00000377431.2_5'Flank|TMEM143_ENST00000435956.3_5'Flank|TMEM143_ENST00000541566.1_5'Flank|TMEM143_ENST00000436660.2_5'Flank|TMEM143_ENST00000598012.1_5'Flank	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	14						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GGCCAACAGCGAAGCCGTGCA	0.647																																																	0									LYS/GLU	0,4406		0,0,2203	105	103	104		40	4.9	0.3	19		104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SYNGR4	NM_012451.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	14/235	48869139	2,13004	2203	4300	6503	SO:0001583	missense	23546			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.40G>A	19.37:g.48869139G>A	ENSP00000344041:p.Glu14Lys		Q3KP58	Missense_Mutation	SNP	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	p.E14K	ENST00000344846.2	37	c.40	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	g	14.15	2.450998	0.43531	0.0	2.33E-4	ENSG00000105467	ENST00000344846	T	0.50001	0.76	4.9	4.9	0.64082	.	0.110737	0.64402	D	0.000015	T	0.40067	0.1102	N	0.22421	0.69	0.41780	D	0.989812	D	0.56746	0.977	P	0.44597	0.454	T	0.45071	-0.9286	10	0.59425	D	0.04	-20.6984	17.2344	0.86994	0.0:0.0:1.0:0.0	.	14	O95473	SNG4_HUMAN	K	14	ENSP00000344041:E14K	ENSP00000344041:E14K	E	+	1	0	SYNGR4	53560951	0.958000	0.32768	0.308000	0.25141	0.210000	0.24377	3.737000	0.55060	2.428000	0.82296	0.500000	0.49745	GAA	SYNGR4	-	pirsf_Synaptogyrin		0.647	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	HGNC	protein_coding	OTTHUMT00000465704.1	G			48869139	1	no_errors	ENST00000344846	ensembl	human	known	70_37	missense	SNP	0.879	A	A	48869139	G	A	48869139	3	1	11	1	0	0	0	0	1	0	0	0	15481	1059	37	1	42	1	SYNGR4	19	48869139	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	1045662	48869139	10259844	126	1340										
ZNF320	162967	genome.wustl.edu	37	chr19	53384853	53384853	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aattatcctatgtatttcaaGatgtgatttgcaactgaaaa	6	5	1	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:53384853G>A	ENST00000595635.1	-	8	1027	c.526C>T	c.(526-528)Ctt>Ttt	p.L176F	ZNF320_ENST00000391781.2_Missense_Mutation_p.L176F|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTATTTCAAGATGTGATTTG	0.353																																																	0													63	61	62					19																	53384853		2203	4300	6503	SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.526C>T	19.37:g.53384853G>A	ENSP00000473091:p.Leu176Phe		Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L176F	ENST00000595635.1	37	c.526	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	10.91	1.483517	0.26598	.	.	ENSG00000182986	ENST00000391781	T	0.52057	0.68	1.75	0.524	0.17066	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34658	0.0905	L	0.60067	1.865	0.09310	N	1	P	0.39157	0.662	B	0.31101	0.124	T	0.25152	-1.0140	9	0.59425	D	0.04	.	3.7298	0.08488	0.1579:0.0:0.5993:0.2427	.	176	A2RRD8	ZN320_HUMAN	F	176	ENSP00000375660:L176F	ENSP00000375660:L176F	L	-	1	0	ZNF320	58076665	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.345000	0.19979	0.043000	0.15746	0.196000	0.17591	CTT	ZNF320	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	G	NM_207333		53384853	-1	no_errors	ENST00000391781	ensembl	human	known	70_37	missense	SNP	0.001	A	A	53384853	G	A	53384853	3	1	11	1	0	0	0	0	1	0	0	0	17869	942	33	1	1007	1	ZNF320	19	53384853	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	4515714	53384853	5744130	127	1341										
C19orf18	147685	genome.wustl.edu	37	chr19	58472918	58472918	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttcctcagcctgtgccagtcGactggagaatgatataaatg	10	9	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:58472918G>A	ENST00000314391.3	-	5	474	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	125						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TGTGCCAGTCGACTGGAGAAT	0.433																																																	0													104	98	100					19																	58472918		2203	4300	6503	SO:0001630	splice_region_variant	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.372-1C>T	19.37:g.58472918G>A				Nonsense_Mutation	SNP	NULL	p.R125*	ENST00000314391.3	37	c.373	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375458	0.42105	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.14	1.92	0.25849	.	0.198054	0.25250	N	0.032023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6749	9.037	0.36293	0.0:0.0:0.5621:0.4379	.	.	.	.	X	125	.	ENSP00000321519:R125X	R	-	1	2	C19orf18	63164730	0.817000	0.29147	0.663000	0.29738	0.069000	0.16628	0.736000	0.26130	0.621000	0.30232	0.462000	0.41574	CGA	C19orf18	-	NULL		0.433	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1	G	NM_152474	Nonsense_Mutation	58472918	-1	no_errors	ENST00000314391	ensembl	human	known	70_37	nonsense	SNP	0.719	A	A	58472918	G	A	58472918	5	1	11	1	0	0	0	0	0	0	1	0	1915	1072	37	1	282	1	C19orf18	19	58472918	Splice_Site	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	5088065	58472918	656065	128	1342										
DDRGK1	65992	genome.wustl.edu	37	chr20	3175951	3175951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cttcagtttcaggtactcctCatgctcccgctgggcctgct	9	15	3	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr20:3175951C>T	ENST00000354488.3	-	5	616	c.559G>A	c.(559-561)Gag>Aag	p.E187K	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187K	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	187						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						AGGTACTCCTCATGCTCCCGC	0.622																																																	0													144	118	126					20																	3175951		2203	4300	6503	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.559G>A	20.37:g.3175951C>T	ENSP00000346483:p.Glu187Lys		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.E187K	ENST00000354488.3	37	c.559	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.077237	0.94000	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.55234	0.53	4.48	4.48	0.54585	.	0.053754	0.64402	D	0.000001	T	0.71660	0.3366	M	0.77820	2.39	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.99;0.992	T	0.74272	-0.3719	10	0.49607	T	0.09	-5.0282	14.6769	0.68986	0.0:1.0:0.0:0.0	.	187;187	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	K	187	ENSP00000346483:E187K	ENSP00000346483:E187K	E	-	1	0	DDRGK1	3123951	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.392000	0.73213	2.313000	0.78055	0.563000	0.77884	GAG	DDRGK1	-	pfam_DDRGK_dom-contain		0.622	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	C	NM_023935		3175951	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3175951	C	T	3175951	3	4	11	1	0	0	0	0	1	0	0	0	4343	835	29	1	405	1	DDRGK1	20	3175951	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		3175951	59849569	129	1343										
PTPRT	11122	genome.wustl.edu	37	chr20	41101176	41101176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ggctctgatgtctacgatttCcacgttctgtgggccatgta	11	10	3	1	rs370385649		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr20:41101176C>T	ENST00000373187.1	-	8	1179	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E394K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E394K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E394K|PTPRT_ENST00000373198.4_Missense_Mutation_p.E394K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E394K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E394K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	394	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTACGATTTCCACGTTCTGT	0.562																																																	0								C	LYS/GLU,LYS/GLU	1,4109		0,1,2054	49	56	54		1180,1180	5.7	1	20		54	0,8436		0,0,4218	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	56,56	0,1,6272	TT,TC,CC		0.0,0.0243,0.0080	benign,benign	394/1442,394/1461	41101176	1,12545	2055	4218	6273	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1180G>A	20.37:g.41101176C>T	ENSP00000362283:p.Glu394Lys		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E394K	ENST00000373187.1	37	c.1180	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514922	0.27123	2.43E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.100453	0.64402	D	0.000002	T	0.32971	0.0847	N	0.19112	0.55	0.43647	D	0.996059	B;B	0.33299	0.407;0.084	B;B	0.30782	0.12;0.025	T	0.14868	-1.0457	10	0.07644	T	0.81	.	19.8432	0.96699	0.0:1.0:0.0:0.0	.	394;394	O14522-1;O14522	.;PTPRT_HUMAN	K	394	ENSP00000362286:E394K;ENSP00000362283:E394K;ENSP00000362289:E394K;ENSP00000348408:E394K;ENSP00000362294:E394K;ENSP00000362280:E394K;ENSP00000362297:E394K	ENSP00000348408:E394K	E	-	1	0	PTPRT	40534590	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.366000	0.44204	2.700000	0.92200	0.462000	0.41574	GAA	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			41101176	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41101176	C	T	41101176	3	4	11	1	0	0	0	0	1	0	0	0	12842	864	30	1	3302	1	PTPRT	20	41101176	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	37925225	41101176	21924344	130	1344										
CSTB	1476	genome.wustl.edu	37	chr21	45194154	45194154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	taaggtcaagggcttgttttCatgagggagagattggaaca	14	4	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr21:45194154C>T	ENST00000291568.5	-	3	401	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	76					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		GGCTTGTTTTCATGAGGGAGA	0.522																																					Esophageal Squamous(58;831 1093 17019 29789 35147)												0													244	211	222					21																	45194154		2203	4300	6503	SO:0001583	missense	1476			L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.226G>A	21.37:g.45194154C>T	ENSP00000291568:p.Glu76Lys			Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Prot_inh_stefinA	p.E76K	ENST00000291568.5	37	c.226	CCDS13701.1	21	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692014	0.48097	.	.	ENSG00000160213	ENST00000291568	T	0.77750	-1.12	5.46	5.46	0.80206	Proteinase inhibitor I25, cystatin (2);	0.237197	0.42053	D	0.000767	T	0.70631	0.3246	.	.	.	0.28571	N	0.910636	B	0.23854	0.092	B	0.31547	0.132	T	0.62760	-0.6786	9	0.30078	T	0.28	-13.3196	14.8177	0.70048	0.0:1.0:0.0:0.0	.	76	P04080	CYTB_HUMAN	K	76	ENSP00000291568:E76K	ENSP00000291568:E76K	E	-	1	0	CSTB	44018582	0.941000	0.31946	0.147000	0.22382	0.530000	0.34684	4.046000	0.57376	2.565000	0.86533	0.561000	0.74099	GAA	CSTB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.522	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTB	HGNC	protein_coding	OTTHUMT00000195689.1	C	NM_000100		45194154	-1	no_errors	ENST00000291568	ensembl	human	known	70_37	missense	SNP	0.474	T	T	45194154	C	T	45194154	3	4	11	1	0	0	0	0	1	0	0	0	3987	835	29	1	74	1	CSTB	21	45194154	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08		45194154	2935741	131	1345										
PI4KA	5297	genome.wustl.edu	37	chr22	21188890	21188890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctttcttctacccaatacacTtttggaagacctttgagaag	6	10	2	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:21188890T>C	ENST00000572273.1	-	3	383	c.153A>G	c.(151-153)aaA>aaG	p.K51K	PI4KA_ENST00000255882.6_Silent_p.K109K			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	51					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCAATACACTTTTGGAAGAC	0.318																																					GBM(136;1332 1831 3115 23601 50806)												0													143	149	147					22																	21188890		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.153A>G	22.37:g.21188890T>C			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K109	ENST00000572273.1	37	c.327		22																																																																																			PI4KA	-	superfamily_ARM-type_fold		0.318	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		T	NM_058004		21188890	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	silent	SNP	1.000	C	C	21188890	T	C	21188890	2	2	11	1	0	0	0	0	0	0	0	1	11897	1606	56	5		5	PI4KA	22	21188890	Silent	SNP	T	TCGA-C5-A1BM-01A-11D-A13W-08		21188890	30115676	132	1346										
TCF20	6942	genome.wustl.edu	37	chr22	42610503	42610503	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cattgtgtccttcatactgaGatccagcattcacattgtaa	6	10	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:42610503G>C	ENST00000359486.3	-	1	945	c.809C>G	c.(808-810)tCt>tGt	p.S270C	TCF20_ENST00000335626.4_Missense_Mutation_p.S270C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCATACTGAGATCCAGCATT	0.458																																																	0													199	178	185					22																	42610503		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.809C>G	22.37:g.42610503G>C	ENSP00000352463:p.Ser270Cys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.S270C	ENST00000359486.3	37	c.809	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613950	0.66672	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35605	1.3;1.3	5.33	5.33	0.75918	.	0.083063	0.52532	D	0.000076	T	0.49150	0.1540	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.52335	-0.8589	10	0.72032	D	0.01	-10.4087	19.2001	0.93708	0.0:0.0:1.0:0.0	.	270;270	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	270	ENSP00000352463:S270C;ENSP00000335561:S270C	ENSP00000335561:S270C	S	-	2	0	TCF20	40940447	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.832000	0.92079	2.768000	0.95171	0.655000	0.94253	TCT	TCF20	-	NULL		0.458	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	G	NM_181492		42610503	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42610503	G	C	42610503	3	2	11	1	0	0	0	0	1	0	0	0	15720	942	33	1	5111	1	TCF20	22	42610503	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	21421613	42610503	8694063	133	1347										
PNPLA5	150379	genome.wustl.edu	37	chr22	44282265	44282266	+	Frame_Shift_Ins	INS	-	-	C													0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctttccagttgagagacaggINSccccccttccagcgttggtc							TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:44282265_44282266insC	ENST00000597664.1	-	6	995_996	c.866_867insG	c.(865-867)ggcfs	p.G289fs	PNPLA5_ENST00000593866.1_Frame_Shift_Ins_p.G175fs|PNPLA5_ENST00000381198.2_Frame_Shift_Ins_p.G175fs|PNPLA5_ENST00000216177.4_Frame_Shift_Ins_p.G289fs			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	289					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGAGAGACAGGCCCCCCTTCCA	0.584																																																	0																																										SO:0001589	frameshift_variant	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.867dupG	22.37:g.44282271_44282271dupC	ENSP00000471069:p.Gly289fs		B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Ins	INS	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L290fs	ENST00000597664.1	37	c.867_866		22																																																																																			PNPLA5	-	NULL		0.584	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4	-	NM_138814		44282266	-1	no_errors	ENST00000216177	ensembl	human	known	70_37	frame_shift_ins	INS	0.001:0.022	C	C	44282266	-	C	44282265	7	5	11	1	0	1	1	0	0	0	0	0	12192	1190	42	0	438	0	PNPLA5	22	44282265	Frame_Shift_Ins	INS	-	TCGA-C5-A1BM-01A-11D-A13W-08	1671762	44282265	7022301	134	1348										
GTSE1	51512	genome.wustl.edu	37	chr22	46722476	46722476	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	gatgacccccaaaacgatgcCcagggccgtgggctctcccc	11	17	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:46722476C>G	ENST00000454366.1	+	9	1861	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	531					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAACGATGCCCAGGGCCGTG	0.617																																					GBM(153;542 1915 12487 29016 50495)												0													54	51	52					22																	46722476		2203	4300	6503	SO:0001583	missense	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1649C>G	22.37:g.46722476C>G	ENSP00000415430:p.Pro550Arg		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.P550R	ENST00000454366.1	37	c.1649	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183815	0.06340	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.12147	2.71	4.5	2.35	0.29111	.	0.162613	0.56097	D	0.000033	T	0.13756	0.0333	L	0.50919	1.6	0.26811	N	0.969002	B;B	0.24533	0.105;0.105	B;B	0.28638	0.092;0.092	T	0.15636	-1.0430	10	0.56958	D	0.05	-15.8927	9.3252	0.37988	0.1636:0.6788:0.1576:0.0	.	531;510	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	R	550;510	ENSP00000415430:P550R	ENSP00000354634:P510R	P	+	2	0	GTSE1	45101140	0.969000	0.33509	0.043000	0.18650	0.013000	0.08279	1.466000	0.35310	0.585000	0.29608	-0.440000	0.05779	CCC	GTSE1	-	NULL		0.617	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	C	NM_016426		46722476	1	no_errors	ENST00000454366	ensembl	human	known	70_37	missense	SNP	0.254	G	G	46722476	C	G	46722476	3	3	11	1	0	0	0	0	1	0	0	0	6905	623	22	4	1679	4	GTSE1	22	46722476	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	2440211	46722476	4582090	135	1349										
GRAMD4	23151	genome.wustl.edu	37	chr22	47064702	47064702	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ccgtctccttccagcttgttCatgtgggtccagccggagat	11	13	2	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:47064702C>G	ENST00000406902.1	+	13	1194	c.981C>G	c.(979-981)ttC>ttG	p.F327L	GRAMD4_ENST00000361034.3_Missense_Mutation_p.F327L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	327					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCAGCTTGTTCATGTGGGTCC	0.657																																																	0													95	103	100					22																	47064702		2203	4300	6503	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.981C>G	22.37:g.47064702C>G	ENSP00000385689:p.Phe327Leu		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.F327L	ENST00000406902.1	37	c.981	CCDS33672.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.95|16.95	3.262172|3.262172	0.59431|0.59431	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.44881|.	0.91;0.91|.	4.47|4.47	3.45|3.45	0.39498|0.39498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36991|0.36991	0.0987|0.0987	N|N	0.16790|0.16790	0.44|0.44	0.53005|0.53005	D|D	0.999966|0.999966	P;P|.	0.52577|.	0.954;0.512|.	D;B|.	0.66351|.	0.943;0.287|.	T|T	0.08868|0.08868	-1.0701|-1.0701	10|5	0.18710|.	T|.	0.47|.	-30.9462|-30.9462	7.3233|7.3233	0.26540|0.26540	0.0:0.7972:0.0:0.2028|0.0:0.7972:0.0:0.2028	.|.	149;327|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	L|D	327|150	ENSP00000385689:F327L;ENSP00000354313:F327L|.	ENSP00000354313:F327L|.	F|H	+|+	3|1	2|0	GRAMD4|GRAMD4	45443366|45443366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.307000|1.307000	0.33516|0.33516	1.028000|1.028000	0.39785|0.39785	-0.266000|-0.266000	0.10368|0.10368	TTC|CAT	GRAMD4	-	NULL		0.657	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	C	NM_015124		47064702	1	no_errors	ENST00000361034	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47064702	C	G	47064702	3	3	11	1	0	0	0	0	1	0	0	0	6772	825	29	1	1027	1	GRAMD4	22	47064702	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	342226	47064702	4239864	136	1350										
MAPK11	5600	genome.wustl.edu	37	chr22	50704989	50704989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	agtcgcttcccgggaagaggGccttgccctggagcagctca	14	13	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:50704989G>A	ENST00000330651.6	-	8	762	c.662C>T	c.(661-663)gCc>gTc	p.A221V	MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_3'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.A221V(1)		breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CGGGAAGAGGGCCTTGCCCTG	0.657																																					GBM(9;634 739 50668)												1	Substitution - Missense(1)	lung(1)											68	64	65					22																	50704989		2203	4300	6503	SO:0001583	missense	5600			Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.662C>T	22.37:g.50704989G>A	ENSP00000333685:p.Ala221Val		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38,prints_MAPK_JNK	p.A221V	ENST00000330651.6	37	c.662	CCDS14090.1	22	.	.	.	.	.	.	.	.	.	.	g	9.944	1.218418	0.22373	.	.	ENSG00000185386	ENST00000330651	T	0.13196	2.61	4.27	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220191	0.37530	U	0.002050	T	0.06416	0.0165	N	0.05534	-0.03	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20207	-1.0282	10	0.07644	T	0.81	-16.4424	12.5989	0.56487	0.0:0.0:1.0:0.0	.	221	Q15759	MK11_HUMAN	V	221	ENSP00000333685:A221V	ENSP00000333685:A221V	A	-	2	0	MAPK11	49047116	0.126000	0.22350	1.000000	0.80357	0.803000	0.45373	2.638000	0.46562	2.141000	0.66446	0.479000	0.44913	GCC	MAPK11	-	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		0.657	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK11	HGNC	protein_coding	OTTHUMT00000316900.1	G			50704989	-1	no_errors	ENST00000330651	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50704989	G	A	50704989	3	1	11	1	0	0	0	0	1	0	0	0	9296	1203	42	4	452	4	MAPK11	22	50704989	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	3640287	50704989	599577	137	1351										
ARHGAP6	395	genome.wustl.edu	37	chrX	11682476	11682476	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cattggggcctcccccggatGaacagaggatgctggaagcg	15	11	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:11682476G>A	ENST00000337414.4	-	1	1345	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S158L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S158L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	158					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCCCCGGATGAACAGAGGAT	0.662																																																	0													25	27	26					X																	11682476		2202	4300	6502	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.473C>T	X.37:g.11682476G>A	ENSP00000338967:p.Ser158Leu		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S158L	ENST00000337414.4	37	c.473	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816108	0.50527	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.28069	1.97;1.88;1.63	4.44	3.56	0.40772	.	.	.	.	.	T	0.17152	0.0412	N	0.19112	0.55	0.28297	N	0.923279	B;B	0.32101	0.356;0.243	B;B	0.29598	0.104;0.048	T	0.06734	-1.0810	9	0.38643	T	0.18	.	5.6513	0.17618	0.1132:0.1971:0.6897:0.0	.	158;158	O43182-2;O43182	.;RHG06_HUMAN	L	158	ENSP00000338967:S158L;ENSP00000370094:S158L;ENSP00000370108:S158L	ENSP00000338967:S158L	S	-	2	0	ARHGAP6	11592397	0.591000	0.26824	0.947000	0.38551	0.344000	0.29017	1.612000	0.36889	2.062000	0.61559	0.600000	0.82982	TCA	ARHGAP6	-	NULL		0.662	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11682476	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	0.504	A	A	11682476	G	A	11682476	3	1	11	1	0	0	0	0	1	0	0	0	887	1294	45	1	2625	1	ARHGAP6	23	11682476	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08		11682476	143588084	138	1352										
SCML2	10389	genome.wustl.edu	37	chrX	18283732	18283732	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	cctgagtttggaccttttttCcttggtgtgatatttttaac	8	7	0	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:18283732C>G	ENST00000251900.4	-	8	1080	c.921G>C	c.(919-921)agG>agC	p.R307S	SCML2_ENST00000398048.3_Missense_Mutation_p.R43S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	307					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GACCTTTTTTCCTTGGTGTGA	0.363																																					Esophageal Squamous(100;1252 1965 19021 35517)												0													204	191	196					X																	18283732		2203	4300	6503	SO:0001583	missense	10389			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.921G>C	X.37:g.18283732C>G	ENSP00000251900:p.Arg307Ser		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.R307S	ENST00000251900.4	37	c.921	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738834	0.15642	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.49432	2.11;0.78	5.5	3.47	0.39725	.	.	.	.	.	T	0.38348	0.1037	M	0.61703	1.905	0.37491	D	0.916396	B;P;B	0.43094	0.354;0.799;0.215	B;B;B	0.38562	0.146;0.276;0.101	T	0.35325	-0.9793	9	0.10377	T	0.69	.	8.6608	0.34091	0.0:0.7531:0.0:0.2469	.	275;43;307	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	S	307;43;275	ENSP00000251900:R307S;ENSP00000381126:R43S	ENSP00000251900:R307S	R	-	3	2	SCML2	18193653	1.000000	0.71417	0.934000	0.37439	0.107000	0.19398	1.322000	0.33689	1.091000	0.41335	0.468000	0.43344	AGG	SCML2	-	NULL		0.363	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	C	NM_006089		18283732	-1	no_errors	ENST00000251900	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18283732	C	G	18283732	3	3	11	1	0	0	0	0	1	0	0	0	13940	854	30	1	1213	1	SCML2	23	18283732	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	6601256	18283732	136986828	139	1353										
FAM47A	158724	genome.wustl.edu	37	chrX	34148721	34148721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctctggagctttgggaggctCcgggtggagactggacaccc	16	11	1	1			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:34148721C>T	ENST00000346193.3	-	1	1726	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	559										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGGGTGGAGA	0.572																																																	0													62	60	61					X																	34148721		2180	4278	6458	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1675G>A	X.37:g.34148721C>T	ENSP00000345029:p.Glu559Lys		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.E559K	ENST00000346193.3	37	c.1675	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	10.59	1.391923	0.25118	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.691	0.691	0.18045	.	.	.	.	.	T	0.12135	0.0295	L	0.27053	0.805	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.33752	-0.9856	8	0.18710	T	0.47	.	.	.	.	.	559	Q5JRC9	FA47A_HUMAN	K	559	ENSP00000345029:E559K	ENSP00000345029:E559K	E	-	1	0	FAM47A	34058642	0.009000	0.17119	0.002000	0.10522	0.022000	0.10575	1.852000	0.39348	0.596000	0.29794	0.287000	0.19450	GAG	FAM47A	-	NULL		0.572	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	C	NM_203408		34148721	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	missense	SNP	0.009	T	T	34148721	C	T	34148721	3	4	11	1	0	0	0	0	1	0	0	0	5587	864	30	1	704	1	FAM47A	23	34148721	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	15864989	34148721	121121839	140	1354										
USP9X	8239	genome.wustl.edu	37	chrX	41077746	41077746	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ttctggagtgccctagtgcaGaagtgaggggtgcgtttgca	16	7	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:41077746G>A	ENST00000324545.8	+	37	6964	c.6331G>A	c.(6331-6333)Gaa>Aaa	p.E2111K	USP9X_ENST00000378308.2_Missense_Mutation_p.E2111K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2111					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCCTAGTGCAGAAGTGAGGGG	0.443																																					Ovarian(172;1807 2695 35459 49286)												0													214	187	196					X																	41077746		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6331G>A	X.37:g.41077746G>A	ENSP00000316357:p.Glu2111Lys		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E2111K	ENST00000324545.8	37	c.6331	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.621777	0.96660	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03553	3.9;3.89	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	M	0.79475	2.455	0.80722	D	1	D;D	0.65815	0.993;0.995	P;P	0.57101	0.813;0.743	T	0.01309	-1.1389	10	0.31617	T	0.26	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	2111;2111	Q93008-1;Q93008	.;USP9X_HUMAN	K	2111	ENSP00000367558:E2111K;ENSP00000316357:E2111K	ENSP00000316357:E2111K	E	+	1	0	USP9X	40962690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.442000	0.82660	0.513000	0.50165	GAA	USP9X	-	NULL		0.443	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41077746	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41077746	G	A	41077746	3	1	11	1	0	0	0	0	1	0	0	0	17121	943	33	1	6473	1	USP9X	23	41077746	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	6929025	41077746	114192814	141	1355										
ZNF673	55634	genome.wustl.edu	37	chrX	46332435	46332435	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tcaaaatggaagctatgtaaGaaagaaagatgatggatgta	11	2	1	4			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:46332435G>C	ENST00000344302.4	+	6	1135	c.504G>C	c.(502-504)aaG>aaC	p.K168N	KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000298190.6_Missense_Mutation_p.K163N|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	168					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										AGCTATGTAAGAAAGAAAGAT	0.333																																																	0													55	50	52					X																	46332435		2201	4298	6499	SO:0001583	missense	55634				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"-"	26007	protein-coding gene	gene with protein product	"hypothetical protein FLJ20344"	300585	"zinc finger protein 673", "zinc finger family member 673"	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.504G>C	X.37:g.46332435G>C	ENSP00000345797:p.Lys168Asn		A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.K168N	ENST00000344302.4	37	c.504	CCDS48097.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.993669	0.00439	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00856	5.61;5.68	1.97	0.119	0.14685	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	P;P	0.45078	0.767;0.85	B;B	0.37267	0.124;0.245	T	0.53535	-0.8425	9	0.37606	T	0.19	1.0E-4	5.759	0.18188	0.3326:0.0:0.6674:0.0	.	168;163	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	N	168;163;168	ENSP00000345797:K168N;ENSP00000298190:K163N	ENSP00000298190:K163N	K	+	3	2	ZNF673	46217379	0.470000	0.25854	0.007000	0.13788	0.019000	0.09904	2.700000	0.47085	-0.070000	0.12908	-0.296000	0.09543	AAG	ZNF673	-	NULL		0.333	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF673	HGNC	protein_coding	OTTHUMT00000056359.2	G	NM_017776		46332435	1	no_errors	ENST00000344302	ensembl	human	known	70_37	missense	SNP	0.036	C	C	46332435	G	C	46332435	3	2	11	1	0	0	0	0	1	0	0	0	18110	933	33	1	566	1	ZNF673	23	46332435	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	5254689	46332435	108938125	142	1356										
PPP1R3F	89801	genome.wustl.edu	37	chrX	49143337	49143337	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	ctcatgtgagctcccaggatGaaaaggatgcaggcccaagc	12	11	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:49143337G>A	ENST00000055335.6	+	4	2201	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E383K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E383K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E400K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E383K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	729					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTCCCAGGATGAAAAGGATGC	0.602																																																	0													63	49	54					X																	49143337		2203	4300	6503	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2185G>A	X.37:g.49143337G>A	ENSP00000055335:p.Glu729Lys		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E729K	ENST00000055335.6	37	c.2185	CCDS35254.1	X	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775902	0.16051	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59502	0.69;0.69;0.26;0.69;0.69	4.73	3.87	0.44632	.	0.360291	0.23091	N	0.052027	T	0.43523	0.1251	L	0.29908	0.895	0.25411	N	0.988356	B;B;B	0.12630	0.003;0.006;0.001	B;B;B	0.12837	0.006;0.008;0.004	T	0.41610	-0.9499	10	0.72032	D	0.01	-0.0309	8.5594	0.33501	0.1132:0.0:0.8868:0.0	.	400;414;729	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	K	383;400;729;383;383	ENSP00000420687:E383K;ENSP00000415548:E400K;ENSP00000055335:E729K;ENSP00000417535:E383K;ENSP00000365359:E383K	ENSP00000055335:E729K	E	+	1	0	PPP1R3F	49030281	0.963000	0.33076	0.788000	0.31933	0.318000	0.28184	1.599000	0.36751	1.081000	0.41110	0.513000	0.50165	GAA	PPP1R3F	-	NULL		0.602	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	G	NM_033215		49143337	1	no_errors	ENST00000055335	ensembl	human	known	70_37	missense	SNP	0.772	A	A	49143337	G	A	49143337	3	1	11	1	0	0	0	0	1	0	0	0	12402	1291	45	1	2199	1	PPP1R3F	23	49143337	Missense_Mutation	SNP	G	TCGA-C5-A1BM-01A-11D-A13W-08	2810902	49143337	106127223	143	1357										
GLA	2717	genome.wustl.edu	37	chrX	100658843	100658843	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	atgaggaaagcgctgagggtCtgcctgaagtctgccttctg	14	9	3	3			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:100658843C>G	ENST00000218516.3	-	2	346	c.325G>C	c.(325-327)Gac>Cac	p.D109H	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	109					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGAGGGTCTGCCTGAAGT	0.463																																					Colon(193;776 2816 31189 44474)												0													165	145	151					X																	100658843		2203	4300	6503	SO:0001583	missense	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.325G>C	X.37:g.100658843C>G	ENSP00000218516:p.Asp109His		Q6LER7	Missense_Mutation	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.D109H	ENST00000218516.3	37	c.325	CCDS14484.1	X	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879665	0.91740	.	.	ENSG00000102393	ENST00000218516	D	0.99948	-8.65	5.79	5.79	0.91817	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.95709	0.8756	9	0.59425	D	0.04	-21.7957	19.0369	0.92982	0.0:1.0:0.0:0.0	.	109;109	B4DLT5;P06280	.;AGAL_HUMAN	H	109	ENSP00000218516:D109H	ENSP00000218516:D109H	D	-	1	0	GLA	100545499	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.793000	0.85851	2.444000	0.82710	0.594000	0.82650	GAC	GLA	-	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF		0.463	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	C			100658843	-1	no_errors	ENST00000218516	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100658843	C	G	100658843	3	3	11	1	0	0	0	0	1	0	0	0	6445	913	32	1	988	1	GLA	23	100658843	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	51515506	100658843	54611717	144	1358										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130218322	130218322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	aaggaagatgagtctcaatcCgattgcgaaacaaatccccc	8	11	1	2			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:130218322C>T	ENST00000276211.5	+	5	1034	c.689C>T	c.(688-690)cCg>cTg	p.P230L	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P218L|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P94L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	230	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGTCTCAATCCGATTGCGAAA	0.468																																																	0													49	46	47					X																	130218322		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.689C>T	X.37:g.130218322C>T	ENSP00000276211:p.Pro230Leu		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P230L	ENST00000276211.5	37	c.689	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144131	0.57044	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T;T	0.39997	2.65;2.64;1.05;1.05;1.05	4.99	4.99	0.66335	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.50627	D	0.000113	T	0.62282	0.2415	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.61917	-0.6964	10	0.40728	T	0.16	.	12.5345	0.56135	0.0:1.0:0.0:0.0	.	199;218;230	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	L	230;218;182;199;94	ENSP00000276211:P230L;ENSP00000359960:P218L;ENSP00000409218:P182L;ENSP00000408515:P199L;ENSP00000359959:P94L	ENSP00000276211:P230L	P	+	2	0	ARHGAP36	130046003	1.000000	0.71417	0.912000	0.35992	0.132000	0.20833	6.439000	0.73430	2.451000	0.82905	0.529000	0.55759	CCG	ARHGAP36	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.468	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130218322	1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	0.995	T	T	130218322	C	T	130218322	3	4	11	1	0	0	0	0	1	0	0	0	883	652	23	2	703	2	ARHGAP36	23	130218322	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	29559479	130218322	25052238	145	1359										
MAGEA12	4111	genome.wustl.edu	37	chrX	151900161	151900161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.527397260273973	77	3.89223964445686e-29	4.02055288461538	5.1982905982906	3.16112266112266	0.336660640935227	0.569890847767481	58	tttctcctcaggggcacagtCgccctcttttgcgattatgg	10	12	3	0			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:151900161C>T	ENST00000357916.4	-	2	795	c.640G>A	c.(640-642)Gac>Aac	p.D214N	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.D214N|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D214N	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	214	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCACAGTCGCCCTCTTTT	0.582																																																	0													159	153	155					X																	151900161		2203	4298	6501	SO:0001583	missense	4111				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.640G>A	X.37:g.151900161C>T	ENSP00000350592:p.Asp214Asn		Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D214N	ENST00000357916.4	37	c.640	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.168639	0.00315	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.03663	3.85;3.85;3.85	0.809	-1.62	0.08372	.	0.499344	0.24474	N	0.038204	T	0.00936	0.0031	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38929	-0.9638	9	0.02654	T	1	.	.	.	.	.	214	P43365	MAGAC_HUMAN	N	214	ENSP00000350592:D214N;ENSP00000377447:D214N;ENSP00000377478:D214N	ENSP00000350592:D214N	D	-	1	0	MAGEA12	151650817	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	-0.107000	0.10873	-1.033000	0.03299	0.181000	0.17075	GAC	MAGEA12	-	pfam_MAGE,pfscan_MAGE		0.582	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	C	NM_005367		151900161	-1	no_errors	ENST00000357916	ensembl	human	known	70_37	missense	SNP	0.001	T	T	151900161	C	T	151900161	3	4	11	1	0	0	0	0	1	0	0	0	9189	884	31	1	308	1	MAGEA12	23	151900161	Missense_Mutation	SNP	C	TCGA-C5-A1BM-01A-11D-A13W-08	21681839	151900161	3370399	146	1360										
PRDM16	63976	genome.wustl.edu	37	chr1	3319365	3319365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tctcttgcagaggagcccacGttccgctgtgacgagtgtga	13	11	1	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:3319365G>A	ENST00000270722.5	+	6	736	c.687G>A	c.(685-687)acG>acA	p.T229T	PRDM16_ENST00000378398.3_Silent_p.T230T|PRDM16_ENST00000378391.2_Silent_p.T229T|PRDM16_ENST00000511072.1_Silent_p.T230T|PRDM16_ENST00000442529.2_Silent_p.T229T|PRDM16_ENST00000441472.2_Silent_p.T229T|PRDM16_ENST00000514189.1_Silent_p.T230T|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	229					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGAGCCCACGTTCCGCTGTG	0.622			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													47	54	51					1																	3319365		2098	4216	6314	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.687G>A	1.37:g.3319365G>A			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.T229	ENST00000270722.5	37	c.687	CCDS41236.2	1																																																																																			PRDM16	-	NULL		0.622	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3319365	1	no_errors	ENST00000270722	ensembl	human	known	70_37	silent	SNP	0.237	A	A	3319365	G	A	3319365	2	1	12	1	0	0	0	0	0	0	0	1	12484	1132	40	2		2	PRDM16	1	3319365	Silent	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		3319365	245931256	1	1361										
NPPA	4878	genome.wustl.edu	37	chr1	11907423	11907423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cagcccccgcttcttcattcGgctcactgagcacttgtggg	10	15	3	1	rs150794709		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:11907423G>A	ENST00000376480.3	-	2	295	c.197C>T	c.(196-198)cCg>cTg	p.P66L	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.P16L	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	66					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCATTCGGCTCACTGAG	0.567																																																	0								G	LEU/PRO	0,4404		0,0,2202	43	50	47		197	4.7	1	1	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NPPA	NM_006172.3	98	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	benign	66/152	11907423	3,13001	2202	4300	6502	SO:0001583	missense	4878			BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.197C>T	1.37:g.11907423G>A	ENSP00000365663:p.Pro66Leu		Q13766|Q5JZE1	Missense_Mutation	SNP	pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide	p.P66L	ENST00000376480.3	37	c.197	CCDS139.1	1	.	.	.	.	.	.	.	.	.	.	g	8.584	0.883068	0.17467	0.0	3.49E-4	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.42131	0.98	5.84	4.71	0.59529	.	0.441751	0.24321	N	0.039543	T	0.26593	0.0650	N	0.14661	0.345	0.28375	N	0.919816	B	0.13145	0.007	B	0.01281	0.0	T	0.18272	-1.0342	10	0.66056	D	0.02	-12.4016	10.2591	0.43416	0.0:0.0:0.167:0.833	.	66	P01160	ANF_HUMAN	L	66;16	ENSP00000365663:P66L	ENSP00000365659:P16L	P	-	2	0	NPPA	11830010	1.000000	0.71417	0.956000	0.39512	0.011000	0.07611	2.067000	0.41461	1.041000	0.40125	-0.367000	0.07326	CCG	NPPA	-	prints_Natriuretic_peptide_atrial		0.567	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPPA	HGNC	protein_coding	OTTHUMT00000006852.1	G	NM_006172		11907423	-1	no_errors	ENST00000376480	ensembl	human	known	70_37	missense	SNP	0.999	A	A	11907423	G	A	11907423	3	1	12	1	0	0	0	0	1	0	0	0	10615	1116	39	2	266	2	NPPA	1	11907423	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	8588058	11907423	237343198	2	1362										
KLHDC7A	127707	genome.wustl.edu	37	chr1	18809383	18809383	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	acggtgcgtgccaaggaaatCttcgtcaccggcggctcgct	13	13	2	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:18809383C>G	ENST00000400664.1	+	1	1960	c.1908C>G	c.(1906-1908)atC>atG	p.I636M		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	636						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGGAAATCTTCGTCACCG	0.711																																																	0													20	22	21					1																	18809383		2201	4296	6497	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1908C>G	1.37:g.18809383C>G	ENSP00000383505:p.Ile636Met		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.I636M	ENST00000400664.1	37	c.1908	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189999	0.38707	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.70986	-0.53	4.85	2.83	0.33086	Kelch-type beta propeller (1);	0.324238	0.28560	N	0.014908	T	0.79094	0.4388	M	0.75777	2.31	0.38136	D	0.938291	D;D	0.62365	0.991;0.991	D;D	0.63597	0.916;0.916	T	0.79764	-0.1666	10	0.48119	T	0.1	.	8.5402	0.33388	0.0:0.7583:0.1546:0.0871	.	573;636	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	M	636;573	ENSP00000383505:I636M	ENSP00000383505:I636M	I	+	3	3	KLHDC7A	18681970	0.892000	0.30473	1.000000	0.80357	0.573000	0.36030	-0.083000	0.11286	1.024000	0.39682	0.561000	0.74099	ATC	KLHDC7A	-	NULL		0.711	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18809383	1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.998	G	G	18809383	C	G	18809383	3	3	12	1	0	0	0	0	1	0	0	0	8380	903	32	1	1910	1	KLHDC7A	1	18809383	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	6901960	18809383	230441238	3	1363										
CLCA4	22802	genome.wustl.edu	37	chr1	87038329	87038329	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tttatgtttcagatgaagctCagaacaatggcctcattgat	8	7	3	4			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:87038329C>T	ENST00000370563.3	+	9	1435	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CLCA4_ENST00000263723.5_Nonsense_Mutation_p.Q178*|CLCA4_ENST00000496322.1_3'UTR|RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGATGAAGCTCAGAACAATGG	0.353																																																	0													100	104	103					1																	87038329		2183	4297	6480	SO:0001587	stop_gained	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1393C>T	1.37:g.87038329C>T	ENSP00000359594:p.Gln465*		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Q465*	ENST00000370563.3	37	c.1393	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.181114	0.97352	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	.	.	.	5.89	-2.69	0.06022	.	1.292520	0.04956	N	0.461294	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.014	20.5586	0.99321	0.0854:0.1799:0.7347:0.0	.	.	.	.	X	465;178	.	ENSP00000263723:Q178X	Q	+	1	0	CLCA4	86810917	0.000000	0.05858	0.002000	0.10522	0.204000	0.24138	-1.055000	0.03493	-0.856000	0.04120	-0.234000	0.12200	CAG	CLCA4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	C	NM_012128		87038329	1	no_errors	ENST00000370563	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	87038329	C	T	87038329	4	4	12	1	0	0	0	0	0	1	0	0	3464	827	29	1	1427	1	CLCA4	1	87038329	Nonsense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	68228946	87038329	162212292	4	1364										
ATXN7L2	127002	genome.wustl.edu	37	chr1	110031523	110031523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gccgggccaaggactttgacGtgctggtggcagagctgaag	17	9	0	3	rs199993090		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:110031523G>A	ENST00000369870.3	+	7	853	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	280	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGACTTTGACGTGCTGGTGGC	0.607																																																	0													43	47	46					1																	110031523		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.838G>A	1.37:g.110031523G>A	ENSP00000358886:p.Val280Met			Missense_Mutation	SNP	pfam_SCA7_dom	p.V280M	ENST00000369870.3	37	c.838	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136899	0.77662	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.34859	1.34	5.72	5.72	0.89469	SCA7 domain (2);	0.000000	0.53938	D	0.000043	T	0.34308	0.0893	N	0.13235	0.315	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.31696	-0.9934	10	0.51188	T	0.08	-11.2342	16.7934	0.85595	0.0:0.0:1.0:0.0	.	280	Q5T6C5	AT7L2_HUMAN	M	280	ENSP00000358886:V280M	ENSP00000358886:V280M	V	+	1	0	ATXN7L2	109833046	1.000000	0.71417	0.977000	0.42913	0.881000	0.50899	6.073000	0.71245	2.698000	0.92095	0.561000	0.74099	GTG	ATXN7L2	-	pfam_SCA7_dom		0.607	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	G	NM_153340		110031523	1	no_errors	ENST00000369870	ensembl	human	known	70_37	missense	SNP	0.997	A	A	110031523	G	A	110031523	3	1	12	1	0	0	0	0	1	0	0	0	1218	1145	40	2	864	2	ATXN7L2	1	110031523	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	22993194	110031523	139219098	5	1365										
BCL9	607	genome.wustl.edu	37	chr1	147091935	147091935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	atcaggcccagcatggagatGaacaggatgattccaggctc	12	10	1	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:147091935G>A	ENST00000234739.3	+	8	2714	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	658	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCATGGAGATGAACAGGATGA	0.562			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													48	53	51					1																	147091935		2202	4300	6502	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1974G>A	1.37:g.147091935G>A	ENSP00000234739:p.Met658Ile		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.M658I	ENST00000234739.3	37	c.1974	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.817060	0.32145	.	.	ENSG00000116128	ENST00000234739	T	0.39997	1.05	4.83	4.83	0.62350	.	0.120423	0.85682	D	0.000000	T	0.14098	0.0341	N	0.20986	0.625	0.53005	D	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05869	-1.0859	10	0.33940	T	0.23	-2.8567	8.8927	0.35444	0.0839:0.1645:0.7516:0.0	.	658;658	Q1JQ81;O00512	.;BCL9_HUMAN	I	658	ENSP00000234739:M658I	ENSP00000234739:M658I	M	+	3	0	BCL9	145558559	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.809000	0.38922	2.513000	0.84729	0.591000	0.81541	ATG	BCL9	-	NULL		0.562	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147091935	1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147091935	G	A	147091935	3	1	12	1	0	0	0	0	1	0	0	0	1382	1290	45	1	1992	1	BCL9	1	147091935	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	37060412	147091935	102158686	6	1366										
IVL	3713	genome.wustl.edu	37	chr1	152883056	152883056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ctctctgagcagcaggagggAcagctgaagcacctggagca	14	11	1	2	rs45609438	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:152883056A>G	ENST00000368764.3	+	2	847	c.783A>G	c.(781-783)ggA>ggG	p.G261G	IVL_ENST00000392667.2_Silent_p.G115G			P07476	INVO_HUMAN	involucrin	261	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcaggagggacagctgaagc	0.657																																																	0																																										SO:0001819	synonymous_variant	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.783A>G	1.37:g.152883056A>G			Q5T7P4	Silent	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.G261	ENST00000368764.3	37	c.783	CCDS1030.1	1																																																																																			IVL	-	pfam_Involucrin_rpt		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	A	NM_005547		152883056	1	no_errors	ENST00000368764	ensembl	human	known	70_37	silent	SNP	0.006	G	G	152883056	A	G	152883056	2	3	12	1	0	0	0	0	0	0	0	1	7949	262	10	5		5	IVL	1	152883056	Silent	SNP	A	TCGA-C5-A1BN-01B-11D-A14W-08	5791121	152883056	96367565	7	1367										
PRG4	10216	genome.wustl.edu	37	chr1	186275501	186275501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gaaacctacccccaaaccacCagttgtagatgaagctggaa	8	12	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:186275501C>A	ENST00000445192.2	+	7	695	c.650C>A	c.(649-651)cCa>cAa	p.P217Q	PRG4_ENST00000367485.4_Missense_Mutation_p.P124Q|PRG4_ENST00000367486.3_Missense_Mutation_p.P174Q|PRG4_ENST00000367483.4_Missense_Mutation_p.P176Q|PRG4_ENST00000367484.3_Missense_Mutation_p.P176Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	217					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCAAACCACCAGTTGTAGAT	0.373																																																	0													168	170	169					1																	186275501		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.650C>A	1.37:g.186275501C>A	ENSP00000399679:p.Pro217Gln		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P217Q	ENST00000445192.2	37	c.650	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	c	1.040	-0.679066	0.03378	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.47869	3.2;3.43;0.83;3.3;2.47;3.42	3.97	2.07	0.26955	.	0.161636	0.29034	U	0.013341	T	0.34803	0.0910	L	0.39397	1.21	0.22354	N	0.999178	P;P;P;P	0.46912	0.886;0.886;0.62;0.738	B;B;B;B	0.42245	0.381;0.381;0.142;0.276	T	0.19582	-1.0301	10	0.52906	T	0.07	-0.232	5.32	0.15876	0.1988:0.6924:0.0:0.1088	.	83;124;217;176	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	Q	174;176;126;83;176;124;217	ENSP00000356456:P174Q;ENSP00000356454:P176Q;ENSP00000431330:P126Q;ENSP00000356453:P176Q;ENSP00000356455:P124Q;ENSP00000399679:P217Q	ENSP00000356452:P83Q	P	+	2	0	PRG4	184542124	0.000000	0.05858	0.025000	0.17156	0.033000	0.12548	-0.400000	0.07241	0.287000	0.22375	-1.641000	0.00772	CCA	PRG4	-	NULL		0.373	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186275501	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.808	A	A	186275501	C	A	186275501	3	1	12	1	0	0	0	0	1	0	0	0	12508	594	21	4	672	4	PRG4	1	186275501	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	33392445	186275501	62975120	8	1368										
MYT1L	23040	genome.wustl.edu	37	chr2	1805482	1805482	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgttacctgagttctgagttTaatcatatcggcttccatct	7	9	3	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:1805482T>A	ENST00000399161.2	-	23	4009	c.3262A>T	c.(3262-3264)Aaa>Taa	p.K1088*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.K1086*|MYT1L_ENST00000407844.1_Nonsense_Mutation_p.K84*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1088					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTGAGTTTAATCATATCG	0.368																																																	0													218	217	218					2																	1805482		1822	4098	5920	SO:0001587	stop_gained	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3262A>T	2.37:g.1805482T>A	ENSP00000382114:p.Lys1088*		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K1088*	ENST00000399161.2	37	c.3262		2	.	.	.	.	.	.	.	.	.	.	T	48	14.557640	0.99800	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	.	.	.	5.03	5.03	0.67393	.	0.043661	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.1193	14.9299	0.70906	0.0:0.0:0.0:1.0	.	.	.	.	X	1088;1034;84;142;1086	.	ENSP00000295067:K1034X	K	-	1	0	MYT1L	1784489	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.953000	0.70290	2.087000	0.62958	0.533000	0.62120	AAA	MYT1L	-	NULL		0.368	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	T	NM_015025		1805482	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	1805482	T	A	1805482	4	1	12	1	0	0	0	0	0	1	0	0	10130	1763	61	5	310	5	MYT1L	2	1805482	Nonsense_Mutation	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08		1805482	241393891	9	1369										
SEMA4F	10505	genome.wustl.edu	37	chr2	74902126	74902126	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgcaacagaggactgcctgtCgtggacaatgatgtgcccca	12	11	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:74902126C>T	ENST00000357877.2	+	9	1262	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	SEMA4F_ENST00000339773.5_Silent_p.V216V|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCCTGTCGTGGACAATG	0.532											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	68	68					2																	74902126		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1113C>T	2.37:g.74902126C>T		1156	Q542Y7|Q9NS35	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V371	ENST00000357877.2	37	c.1113	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.532	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902126	1	no_errors	ENST00000357877	ensembl	human	known	70_37	silent	SNP	0.981	T	T	74902126	C	T	74902126	2	4	12	1	0	0	0	0	0	0	0	1	14065	871	31	1		1	SEMA4F	2	74902126	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	73096644	74902126	168297247	10	1370										
KCTD18	130535	genome.wustl.edu	37	chr2	201371660	201371660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgaagcggcacaaggactccCgccgggctgtgtaaatacag	13	11	0	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:201371660C>T	ENST00000359878.3	-	2	590	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R27Q|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	27	BTB.				protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAGGACTCCCGCCGGGCTGT	0.502																																																	0													74	84	81					2																	201371660		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.80G>A	2.37:g.201371660C>T	ENSP00000352941:p.Arg27Gln		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.R27Q	ENST00000359878.3	37	c.80	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.452569	0.96223	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76060	-0.99;-0.99	5.46	5.46	0.80206	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000008	D	0.86439	0.5933	M	0.74881	2.28	0.46586	D	0.999114	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.86079	0.1543	10	0.52906	T	0.07	-19.8932	19.1052	0.93291	0.0:1.0:0.0:0.0	.	27;27	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	Q	27	ENSP00000352941:R27Q;ENSP00000386751:R27Q	ENSP00000352941:R27Q	R	-	2	0	KCTD18	201079905	0.972000	0.33761	0.979000	0.43373	0.994000	0.84299	2.422000	0.44696	2.840000	0.97914	0.655000	0.94253	CGG	KCTD18	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold		0.502	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	C	NM_152387		201371660	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	0.999	T	T	201371660	C	T	201371660	3	4	12	1	0	0	0	0	1	0	0	0	8125	652	23	2	1224	2	KCTD18	2	201371660	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	126469534	201371660	41827713	11	1371										
ZDBF2	57683	genome.wustl.edu	37	chr2	207173954	207173954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gctgtataaatacagaatgtAttgatatagaagataagagc	9	3	0	5			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:207173954A>C	ENST00000374423.3	+	5	5088	c.4702A>C	c.(4702-4704)Att>Ctt	p.I1568L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1568							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACAGAATGTATTGATATAGA	0.358																																																	0													25	26	26					2																	207173954		1840	4084	5924	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4702A>C	2.37:g.207173954A>C	ENSP00000363545:p.Ile1568Leu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.I1568L	ENST00000374423.3	37	c.4702	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	A	0.367	-0.935943	0.02340	.	.	ENSG00000204186	ENST00000374423	T	0.37752	1.18	3.93	-1.57	0.08506	.	.	.	.	.	T	0.15392	0.0371	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29458	-1.0011	9	0.07813	T	0.8	.	0.4503	0.00500	0.2686:0.1844:0.1329:0.4141	.	1568	Q9HCK1	ZDBF2_HUMAN	L	1568	ENSP00000363545:I1568L	ENSP00000363545:I1568L	I	+	1	0	ZDBF2	206882199	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.145000	0.16157	-0.257000	0.09459	-0.250000	0.11733	ATT	ZDBF2	-	NULL		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	A	NM_020923		207173954	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.000	C	C	207173954	A	C	207173954	3	2	12	1	0	0	0	0	1	0	0	0	17629	449	16	5	4712	5	ZDBF2	2	207173954	Missense_Mutation	SNP	A	TCGA-C5-A1BN-01B-11D-A14W-08	5802294	207173954	36025419	12	1372										
NEU2	4759	genome.wustl.edu	37	chr2	233899464	233899464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gggagcgtcatcagcttcccCagcccccgctcggggcctgg	14	17	2	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:233899464C>T	ENST00000233840.3	+	2	840	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	280					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TCAGCTTCCCCAGCCCCCGCT	0.672																																																	0													20	24	22					2																	233899464		2201	4295	6496	SO:0001819	synonymous_variant	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.840C>T	2.37:g.233899464C>T			Q3KNW4|Q6NTB4	Silent	SNP	superfamily_Neuraminidase	p.P280	ENST00000233840.3	37	c.840	CCDS2501.1	2																																																																																			NEU2	-	superfamily_Neuraminidase		0.672	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	HGNC	protein_coding	OTTHUMT00000257053.2	C	NM_005383		233899464	1	no_errors	ENST00000233840	ensembl	human	known	70_37	silent	SNP	0.825	T	T	233899464	C	T	233899464	2	4	12	1	0	0	0	0	0	0	0	1	10366	581	21	4		4	NEU2	2	233899464	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	26725510	233899464	9299909	13	1373										
COL6A3	1293	genome.wustl.edu	37	chr2	238287552	238287552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	aagcaggagctgcggcacgtGttcacggatcctgctgccgc	14	13	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:238287552G>A	ENST00000295550.4	-	6	2676	c.2224C>T	c.(2224-2226)Cac>Tac	p.H742Y	COL6A3_ENST00000347401.3_Missense_Mutation_p.H541Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.H536Y|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.H335Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.H536Y|COL6A3_ENST00000392004.3_Missense_Mutation_p.H536Y|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	742	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCGGCACGTGTTCACGGATC	0.597																																																	0													52	48	50					2																	238287552		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2224C>T	2.37:g.238287552G>A	ENSP00000295550:p.His742Tyr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.H742Y	ENST00000295550.4	37	c.2224	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252230	0.39797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.52	3.49	0.39957	von Willebrand factor, type A (3);	0.555874	0.15957	N	0.236455	T	0.74861	0.3772	N	0.26042	0.785	0.09310	N	0.999998	B;P;D;B	0.56521	0.33;0.637;0.976;0.202	B;B;P;B	0.53689	0.317;0.428;0.732;0.14	T	0.66504	-0.5907	10	0.72032	D	0.01	.	11.6605	0.51343	0.0:0.0985:0.675:0.2264	.	335;536;536;742	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Y	742;541;536;536;536;335	ENSP00000295550:H742Y;ENSP00000315609:H541Y;ENSP00000315873:H536Y;ENSP00000386844:H536Y;ENSP00000375861:H536Y;ENSP00000375860:H335Y	ENSP00000295550:H742Y	H	-	1	0	COL6A3	237952291	0.000000	0.05858	0.082000	0.20525	0.848000	0.48234	0.897000	0.28390	1.292000	0.44672	0.655000	0.94253	CAC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238287552	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.002	A	A	238287552	G	A	238287552	3	1	12	1	0	0	0	0	1	0	0	0	3706	1377	48	4	7512	4	COL6A3	2	238287552	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	4388088	238287552	4911821	14	1374										
TBC1D5	9779	genome.wustl.edu	37	chr3	17279867	17279867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttccaaaattaatcaggctaTtagagaccttatttatattc	4	7	1	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:17279867T>C	ENST00000253692.7	-	17	3040	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	TBC1D5_ENST00000429924.2_Missense_Mutation_p.N411S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.N459S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N459S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	459						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATCAGGCTATTAGAGACCTT	0.428																																																	0													46	45	45					3																	17279867		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1376A>G	3.37:g.17279867T>C	ENSP00000253692:p.Asn459Ser		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N459S	ENST00000253692.7	37	c.1376	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550968	0.27739	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.39592	1.74;1.74;1.65;1.07	5.79	4.62	0.57501	.	0.085970	0.85682	D	0.000000	T	0.23451	0.0567	N	0.19112	0.55	0.47037	D	0.99929	B;B;B;B	0.21688	0.001;0.004;0.059;0.059	B;B;B;B	0.18263	0.001;0.003;0.021;0.021	T	0.06285	-1.0835	10	0.13108	T	0.6	-20.3739	7.2402	0.26092	0.0:0.0732:0.147:0.7798	.	411;459;459;459	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	S	459;459;459;411	ENSP00000253692:N459S;ENSP00000398127:N459S;ENSP00000402935:N459S;ENSP00000411925:N411S	ENSP00000253692:N459S	N	-	2	0	TBC1D5	17254871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.610000	0.36869	1.005000	0.39183	0.454000	0.30748	AAT	TBC1D5	-	NULL		0.428	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	T	NM_014744		17279867	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17279867	T	C	17279867	3	2	12	1	0	0	0	0	1	0	0	0	15653	1493	52	5	1105	5	TBC1D5	3	17279867	Missense_Mutation	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08		17279867	180742563	15	1375										
ULK4	54986	genome.wustl.edu	37	chr3	41291022	41291022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ccagagcccgcaggaggctgCctgcattcttgaggctctcc	12	15	2	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:41291022C>T	ENST00000301831.4	-	36	4184	c.3722G>A	c.(3721-3723)gGc>gAc	p.G1241D	CTNNB1_ENST00000471014.1_Intron|ULK4_ENST00000489118.1_5'UTR	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1241					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGGAGGCTGCCTGCATTCTT	0.602																																																	0													38	40	40					3																	41291022		1994	4178	6172	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3722G>A	3.37:g.41291022C>T	ENSP00000301831:p.Gly1241Asp		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G1241D	ENST00000301831.4	37	c.3722	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884169	0.33255	.	.	ENSG00000168038	ENST00000301831	T	0.63744	-0.06	5.18	-0.164	0.13359	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.40670	0.1126	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	9	0.18710	T	0.47	.	2.522	0.04682	0.1296:0.5293:0.1256:0.2155	.	1241	Q96C45	ULK4_HUMAN	D	1241	ENSP00000301831:G1241D	ENSP00000301831:G1241D	G	-	2	0	ULK4	41266026	0.000000	0.05858	0.001000	0.08648	0.309000	0.27889	0.731000	0.26058	-0.054000	0.13266	-0.137000	0.14449	GGC	ULK4	-	superfamily_ARM-type_fold		0.602	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	C	XM_929989		41291022	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	0.000	T	T	41291022	C	T	41291022	3	4	12	1	0	0	0	0	1	0	0	0	17009	739	26	4	113	4	ULK4	3	41291022	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	24011155	41291022	156731408	16	1376										
PTH1R	5745	genome.wustl.edu	37	chr3	46944832	46944832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tcaagcgaaaggcacgcagcGggagcagcagctatagctac	13	11	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:46944832G>A	ENST00000313049.5	+	14	1671	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	PTH1R_ENST00000449590.1_Missense_Mutation_p.G490R|PTH1R_ENST00000430002.2_Missense_Mutation_p.G490R|PTH1R_ENST00000418619.1_Missense_Mutation_p.G490R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	490					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGCACGCAGCGGGAGCAGCAG	0.617																																																	0													45	39	41					3																	46944832		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1468G>A	3.37:g.46944832G>A	ENSP00000321999:p.Gly490Arg		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.G490R	ENST00000313049.5	37	c.1468	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311536	0.81358	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.1	4.21	0.49690	.	.	.	.	.	T	0.68742	0.3034	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67189	-0.5733	9	0.40728	T	0.16	.	7.9803	0.30179	0.0796:0.0:0.7594:0.1611	.	490	Q03431	PTH1R_HUMAN	R	490;490;490;490;490;795;79	ENSP00000402723:G490R;ENSP00000411424:G490R;ENSP00000400977:G490R;ENSP00000413774:G490R;ENSP00000321999:G490R;ENSP00000396176:G79R	ENSP00000321999:G490R	G	+	1	0	PTH1R	46919836	0.239000	0.23836	0.993000	0.49108	0.980000	0.70556	1.451000	0.35145	1.480000	0.48289	0.563000	0.77884	GGG	PTH1R	-	prints_GPCR_2_parathyroid_rcpt		0.617	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	G	NM_000316		46944832	1	no_errors	ENST00000313049	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46944832	G	A	46944832	3	1	12	1	0	0	0	0	1	0	0	0	12786	1116	39	2	1522	2	PTH1R	3	46944832	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	5653810	46944832	151077598	17	1377										
SETD2	29072	genome.wustl.edu	37	chr3	47162506	47162506	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttgggacatcttcaaaatcaGaagaataaattggcagctct	8	7	4	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:47162506G>C	ENST00000409792.3	-	3	3662	c.3620C>G	c.(3619-3621)tCt>tGt	p.S1207C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1207					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAAAATCAGAAGAATAAAT	0.418			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													95	97	96					3																	47162506		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3620C>G	3.37:g.47162506G>C	ENSP00000386759:p.Ser1207Cys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1207C	ENST00000409792.3	37	c.3620	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975061	0.18736	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89050	-2.46;1.42	4.33	4.33	0.51752	.	1.360170	0.04573	N	0.393652	T	0.81019	0.4736	N	0.08118	0	0.20196	N	0.999922	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.67546	-0.5643	10	0.72032	D	0.01	.	10.6456	0.45617	0.0883:0.0:0.9117:0.0	.	1207;1207	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1207;1207;1207;1163	ENSP00000386759:S1207C;ENSP00000416401:S1163C	ENSP00000386759:S1207C	S	-	2	0	SETD2	47137510	0.982000	0.34865	1.000000	0.80357	0.973000	0.67179	3.378000	0.52432	2.230000	0.72887	0.655000	0.94253	TCT	SETD2	-	NULL		0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47162506	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.850	C	C	47162506	G	C	47162506	3	2	12	1	0	0	0	0	1	0	0	0	14161	942	33	1	4150	1	SETD2	3	47162506	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	217674	47162506	150859924	18	1378										
POLQ	10721	genome.wustl.edu	37	chr3	121186375	121186375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	agccaccttacctgggaaagGcacaaaggcatgtcgcatgc	11	12	0	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:121186375G>T	ENST00000264233.5	-	24	7086	c.6958C>A	c.(6958-6960)Cct>Act	p.P2320T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2320					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)			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)		CCTGGGAAAGGCACAAAGGCA	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													163	145	151					3																	121186375		2203	4300	6503	SO:0001583	missense	10721			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.6958C>A	3.37:g.121186375G>T	ENSP00000264233:p.Pro2320Thr		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.P2320T	ENST00000264233.5	37	c.6958	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650803	0.87958	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96651	-4.08	5.8	5.8	0.92144	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.80746	2.51	0.50813	D	0.99989	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.963	D	0.98630	1.0671	10	0.72032	D	0.01	.	20.0544	0.97645	0.0:0.0:1.0:0.0	.	2320;1492	O75417;O75417-2	DPOLQ_HUMAN;.	T	1943;2320;2456	ENSP00000264233:P2320T	ENSP00000264233:P2320T	P	-	1	0	POLQ	122669065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.732000	0.91534	2.746000	0.94184	0.591000	0.81541	CCT	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121186375	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121186375	G	T	121186375	3	4	12	1	0	0	0	0	1	0	0	0	12232	1203	42	4	842	4	POLQ	3	121186375	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	74023869	121186375	76836055	19	1379										
SSR3	6747	genome.wustl.edu	37	chr3	156271474	156271474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gaacaaatttcacattcttgTatgcaaaggctaccaaatat	5	8	2	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:156271474T>C	ENST00000265044.2	-	2	324	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	SSR3_ENST00000467789.1_Missense_Mutation_p.Y77C|SSR3_ENST00000463503.1_Missense_Mutation_p.Y25C|SSR3_ENST00000476217.1_Missense_Mutation_p.Y77C|SSR3_ENST00000478842.1_5'Flank|SSR3_ENST00000496050.1_Missense_Mutation_p.Y25C	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	77					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACATTCTTGTATGCAAAGGC	0.333																																																	0													104	96	99					3																	156271474		2203	4300	6503	SO:0001583	missense	6747			BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.230A>G	3.37:g.156271474T>C	ENSP00000265044:p.Tyr77Cys		B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	pfam_TRAP-gamma	p.Y77C	ENST00000265044.2	37	c.230	CCDS3176.1	3	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231671	0.79688	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217;ENST00000463503;ENST00000496050	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81320	-0.0986	9	0.54805	T	0.06	-5.5201	15.2471	0.73513	0.0:0.0:0.0:1.0	.	77;77	B4E2P2;Q9UNL2	.;SSRG_HUMAN	C	77;77;77;25;25	.	ENSP00000265044:Y77C	Y	-	2	0	SSR3	157754168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.054000	0.61138	0.528000	0.53228	TAC	SSR3	-	pfam_TRAP-gamma		0.333	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR3	HGNC	protein_coding	OTTHUMT00000351521.1	T	NM_007107		156271474	-1	no_errors	ENST00000265044	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156271474	T	C	156271474	3	2	12	1	0	0	0	0	1	0	0	0	15222	1638	57	5	343	5	SSR3	3	156271474	Missense_Mutation	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08	35085099	156271474	41750956	20	1380										
MYNN	55892	genome.wustl.edu	37	chr3	169496994	169496994	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ataaatgataattcagaactCgagttgacatcagttgtgga	9	5	2	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:169496994C>A	ENST00000349841.5	+	3	1368	c.705C>A	c.(703-705)ctC>ctA	p.L235L	MYNN_ENST00000356716.4_Silent_p.L235L|MYNN_ENST00000544106.1_Silent_p.L235L|MYNN_ENST00000392733.1_Silent_p.L235L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATTCAGAACTCGAGTTGACAT	0.383																																																	0													56	51	52					3																	169496994		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.705C>A	3.37:g.169496994C>A			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L235	ENST00000349841.5	37	c.705	CCDS3207.1	3																																																																																			MYNN	-	NULL		0.383	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169496994	1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	0.626	A	A	169496994	C	A	169496994	2	1	12	1	0	0	0	0	0	0	0	1	10084	871	31	3		3	MYNN	3	169496994	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	13225520	169496994	28525436	21	1381										
TNIK	23043	genome.wustl.edu	37	chr3	170819317	170819317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttcctcctcttcctcgctacTttctgactcctcactggagg	6	16	3	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:170819317T>G	ENST00000436636.2	-	22	2856	c.2512A>C	c.(2512-2514)Agt>Cgt	p.S838R	TNIK_ENST00000475336.1_Missense_Mutation_p.S746R|TNIK_ENST00000369326.5_Missense_Mutation_p.S816R|TNIK_ENST00000357327.5_Missense_Mutation_p.S809R|TNIK_ENST00000538048.1_Missense_Mutation_p.S790R|TNIK_ENST00000284483.8_Missense_Mutation_p.S830R|TNIK_ENST00000341852.6_Missense_Mutation_p.S754R|TNIK_ENST00000460047.1_Missense_Mutation_p.S775R|TNIK_ENST00000488470.1_Missense_Mutation_p.S783R|TNIK_ENST00000470834.1_Missense_Mutation_p.S801R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	838	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCGCTACTTTCTGACTCC	0.483																																																	0													280	278	278					3																	170819317		2089	4242	6331	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2512A>C	3.37:g.170819317T>G	ENSP00000399511:p.Ser838Arg		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S838R	ENST00000436636.2	37	c.2512	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754443	0.69648	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.994;0.998;0.994;0.994;0.998;0.998;0.994;0.997	D;D;D;D;D;D;D;D	0.74348	0.983;0.947;0.983;0.983;0.947;0.947;0.983;0.922	D	0.84160	0.0428	10	0.51188	T	0.08	.	16.4219	0.83766	0.0:0.0:0.0:1.0	.	746;801;775;754;830;809;783;838	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	838;816;790;754;830;746;809;775;783;801	ENSP00000399511:S838R;ENSP00000358332:S816R;ENSP00000443278:S790R;ENSP00000345352:S754R;ENSP00000284483:S830R;ENSP00000418156:S746R;ENSP00000349880:S809R;ENSP00000418916:S775R;ENSP00000418378:S783R;ENSP00000419990:S801R	ENSP00000284483:S830R	S	-	1	0	TNIK	172302011	1.000000	0.71417	0.970000	0.41538	0.626000	0.37791	7.496000	0.81526	2.277000	0.76020	0.528000	0.53228	AGT	TNIK	-	NULL		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	T	XM_039796		170819317	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170819317	T	G	170819317	3	3	12	1	0	0	0	0	1	0	0	0	16343	1609	56	5	1618	5	TNIK	3	170819317	Missense_Mutation	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08	1322323	170819317	27203113	22	1382										
SLC26A1	10861	genome.wustl.edu	37	chr4	983041	983041	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	atgcaccctgcgtccagcccCgtgaggctgtagagtgactg	13	13	0	3	rs199549367		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:983041C>A	ENST00000361661.2	-	4	2063	c.1686G>T	c.(1684-1686)acG>acT	p.T562T	IDUA_ENST00000509744.1_3'UTR|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398516.2_Silent_p.T562T	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	562	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTCCAGCCCCGTGAGGCTGT	0.692																																																	0													24	27	26					4																	983041		2196	4297	6493	SO:0001819	synonymous_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1686G>T	4.37:g.983041C>A			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T562	ENST00000361661.2	37	c.1686	CCDS33934.1	4																																																																																			SLC26A1	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.692	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	C	NM_022042, NM_134425		983041	-1	no_errors	ENST00000361661	ensembl	human	known	70_37	silent	SNP	0.007	A	A	983041	C	A	983041	2	1	12	1	0	0	0	0	0	0	0	1	14544	639	23	2		2	SLC26A1	4	983041	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		983041	190171235	23	1383										
PDS5A	23244	genome.wustl.edu	37	chr4	39868518	39868518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgtcaggtcaccctcactaaCcaacatcgctgataataacc	5	14	3	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:39868518C>A	ENST00000303538.8	-	23	3144	c.2605G>T	c.(2605-2607)Gtt>Ttt	p.V869F		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CCCTCACTAACCAACATCGCT	0.403																																																	0													74	69	71					4																	39868518		1871	4116	5987	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2605G>T	4.37:g.39868518C>A	ENSP00000303427:p.Val869Phe			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V869F	ENST00000303538.8	37	c.2605	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294066	0.81025	.	.	ENSG00000121892	ENST00000303538	T	0.65732	-0.17	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	L	0.34521	1.04	0.80722	D	1	P	0.47545	0.897	P	0.52758	0.708	T	0.61217	-0.7107	9	.	.	.	-16.0099	19.4681	0.94951	0.0:1.0:0.0:0.0	.	869	Q29RF7	PDS5A_HUMAN	F	869	ENSP00000303427:V869F	.	V	-	1	0	PDS5A	39544913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.881000	0.63114	2.581000	0.87130	0.655000	0.94253	GTT	PDS5A	-	superfamily_ARM-type_fold		0.403	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39868518	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39868518	C	A	39868518	3	1	12	1	0	0	0	0	1	0	0	0	11715	507	18	4	1452	4	PDS5A	4	39868518	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	38885477	39868518	151285758	24	1384										
SPARCL1	8404	genome.wustl.edu	37	chr4	88415045	88415045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tttgtggttgctgatagcttCtaggccagttttaccctctt	9	9	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88415045C>T	ENST00000282470.6	-	4	1377	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SPARCL1_ENST00000418378.1_Missense_Mutation_p.E303K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.E178K	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	303					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGATAGCTTCTAGGCCAGTT	0.433																																																	0													291	276	281					4																	88415045		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.907G>A	4.37:g.88415045C>T	ENSP00000282470:p.Glu303Lys		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E303K	ENST00000282470.6	37	c.907	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143766	0.21205	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26067	2.33;2.33;1.76	4.74	3.89	0.44902	.	0.630882	0.16630	N	0.206104	T	0.19886	0.0478	L	0.34521	1.04	0.18873	N	0.999987	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.17379	-1.0371	10	0.72032	D	0.01	-7.8994	9.3203	0.37959	0.0:0.8975:0.0:0.1025	.	303;303	Q8N4S1;Q14515	.;SPRL1_HUMAN	K	303;303;178;178	ENSP00000282470:E303K;ENSP00000414856:E303K;ENSP00000422903:E178K	ENSP00000282470:E303K	E	-	1	0	SPARCL1	88634069	0.073000	0.21202	0.052000	0.19188	0.002000	0.02628	1.042000	0.30303	1.294000	0.44707	0.655000	0.94253	GAA	SPARCL1	-	pirsf_SPARC-like_p1		0.433	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415045	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.133	T	T	88415045	C	T	88415045	3	4	12	1	0	0	0	0	1	0	0	0	15026	922	32	1	1119	1	SPARCL1	4	88415045	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	48546527	88415045	102739231	25	1385										
SPARCL1	8404	genome.wustl.edu	37	chr4	88415720	88415720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgactgttcatggctttcctCttttgactttagtactgatg	8	8	2	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88415720C>G	ENST00000282470.6	-	4	702	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	SPARCL1_ENST00000418378.1_Missense_Mutation_p.E78Q|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	78					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGGCTTTCCTCTTTTGACTTT	0.363																																																	0													86	80	82					4																	88415720		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.232G>C	4.37:g.88415720C>G	ENSP00000282470:p.Glu78Gln		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E78Q	ENST00000282470.6	37	c.232	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121411	0.20877	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.88	4.04	0.47022	.	0.779066	0.11882	N	0.520457	T	0.36082	0.0954	L	0.36672	1.1	0.26778	N	0.969656	B;B	0.32653	0.379;0.379	B;B	0.26517	0.07;0.07	T	0.22347	-1.0219	10	0.49607	T	0.09	-4.2815	9.8924	0.41298	0.0:0.9029:0.0:0.0971	.	78;78	Q8N4S1;Q14515	.;SPRL1_HUMAN	Q	78	ENSP00000282470:E78Q;ENSP00000414856:E78Q;ENSP00000423483:E78Q;ENSP00000416971:E78Q;ENSP00000438188:E78Q;ENSP00000423448:E78Q;ENSP00000444832:E78Q	ENSP00000282470:E78Q	E	-	1	0	SPARCL1	88634744	0.945000	0.32115	0.904000	0.35570	0.039000	0.13416	1.020000	0.30027	1.377000	0.46286	0.655000	0.94253	GAG	SPARCL1	-	pirsf_SPARC-like_p1		0.363	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415720	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.974	G	G	88415720	C	G	88415720	3	3	12	1	0	0	0	0	1	0	0	0	15026	922	32	1	1794	1	SPARCL1	4	88415720	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	675	88415720	102738556	26	1386										
DSPP	1834	genome.wustl.edu	37	chr4	88536937	88536937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gatagcagtgacagcagcgaTagcagtgacagcagcgatag	14	8	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88536937T>C	ENST00000282478.7	+	4	3156	c.3123T>C	c.(3121-3123)gaT>gaC	p.D1041D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1041D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1041	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgatagcagtgaca	0.522																																																	0													55	64	61					4																	88536937		1555	2768	4323	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3123T>C	4.37:g.88536937T>C			A8MUI0|O95815	Silent	SNP	NULL	p.D1041	ENST00000282478.7	37	c.3123	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.522	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	T	NM_014208		88536937	1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.986	C	C	88536937	T	C	88536937	2	2	12	1	0	0	0	0	0	0	0	1	4792	1403	49	5		5	DSPP	4	88536937	Silent	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08	121217	88536937	102617339	27	1387										
DNAH5	1767	genome.wustl.edu	37	chr5	13762864	13762864	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	acttctttgtttatagaaaaGaaggaagccatagctttcgt	8	6	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr5:13762864G>T	ENST00000265104.4	-	60	10352	c.10248C>A	c.(10246-10248)ttC>ttA	p.F3416L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3416	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATAGAAAAGAAGGAAGCCA	0.478									Kartagener syndrome																																								0													68	68	68					5																	13762864		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10248C>A	5.37:g.13762864G>T	ENSP00000265104:p.Phe3416Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F3416L	ENST00000265104.4	37	c.10248	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365121	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.79352	-1.26	5.31	0.843	0.18935	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	H	0.95645	3.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.77557	0.99	D	0.88507	0.3086	10	0.87932	D	0	.	9.2235	0.37390	0.4701:0.0:0.5299:0.0	.	3416	Q8TE73	DYH5_HUMAN	L	3416	ENSP00000265104:F3416L	ENSP00000265104:F3416L	F	-	3	2	DNAH5	13815864	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	1.676000	0.37565	0.229000	0.21039	0.305000	0.20034	TTC	DNAH5	-	NULL		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13762864	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.996	T	T	13762864	G	T	13762864	3	4	12	1	0	0	0	0	1	0	0	0	4614	933	33	3	3706	3	DNAH5	5	13762864	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		13762864	167152396	28	1388										
HIST1H4E	8367	genome.wustl.edu	37	chr6	26205164	26205164	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgaagagacagggacgcactCtttacggcttcggcggctaa	13	10	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:26205164C>G	ENST00000360441.4	+	1	307	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	98					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGGACGCACTCTTTACGGCTT	0.532																																																	0													119	102	108					6																	26205164		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.292C>G	6.37:g.26205164C>G	ENSP00000353624:p.Leu98Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L98V	ENST00000360441.4	37	c.292	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532825	0.27387	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000003	T	0.64091	0.2567	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	T	0.70835	-0.4764	6	0.87932	D	0	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	V	98	.	ENSP00000353624:L98V	L	+	1	0	HIST1H4E	26313143	1.000000	0.71417	0.120000	0.21714	0.003000	0.03518	5.602000	0.67612	1.521000	0.48983	0.655000	0.94253	CTT	HIST1H4E	-	superfamily_Histone-fold,prints_Histone_H4		0.532	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	C	NM_003545		26205164	1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26205164	C	G	26205164	3	3	12	1	0	0	0	0	1	0	0	0	7189	913	32	1	294	1	HIST1H4E	6	26205164	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		26205164	144909903	29	1389										
HIST1H2AI	8329	genome.wustl.edu	37	chr6	27776279	27776279	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	atgaggagctcaacaagcttCtgggcaaagtcaccatcgca	10	11	3	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:27776279C>A	ENST00000358739.3	+	1	381	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	98						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						CAACAAGCTTCTGGGCAAAGT	0.617																																																	0													56	54	55					6																	27776279		2203	4296	6499	SO:0001583	missense	8329			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"Histones / Replication-dependent"	4725	protein-coding gene	gene with protein product		602787	"H2A histone family, member C", "histone 1, H2ai"	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.292C>A	6.37:g.27776279C>A	ENSP00000351589:p.Leu98Met		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L98M	ENST00000358739.3	37	c.292	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	12.43	1.935489	0.34189	.	.	ENSG00000196747	ENST00000358739	T	0.51325	0.71	4.57	3.7	0.42460	.	0.000000	0.32041	N	0.006671	T	0.40322	0.1112	.	.	.	0.30602	N	0.760462	.	.	.	.	.	.	T	0.35674	-0.9779	7	0.59425	D	0.04	.	12.4159	0.55494	0.0:0.9163:0.0:0.0837	.	.	.	.	M	98	ENSP00000351589:L98M	ENSP00000351589:L98M	L	+	1	2	HIST1H2AI	27884258	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	3.497000	0.53295	1.226000	0.43582	0.561000	0.74099	CTG	HIST1H2AI	-	superfamily_Histone-fold,smart_Histone_H2A		0.617	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	C	NM_003509		27776279	1	no_errors	ENST00000358739	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27776279	C	A	27776279	3	1	12	1	0	0	0	0	1	0	0	0	7155	912	32	3	294	3	HIST1H2AI	6	27776279	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	1571115	27776279	143338788	30	1390										
DSE	29940	genome.wustl.edu	37	chr6	116757050	116757050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttcattactgaggctctgtaCgggccaaagtacaccttctt	8	11	3	1	rs374010235		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:116757050C>T	ENST00000331677.3	+	7	1863	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	DSE_ENST00000359564.2_Silent_p.Y473Y|DSE_ENST00000452085.3_Silent_p.Y473Y|DSE_ENST00000537543.1_Silent_p.Y492Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	473					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGCTCTGTACGGGCCAAAGT	0.448													c|||	1	0.000199681	8e-04	0	5008	,	,		20783	0		0	False		,,,				2504	0																0								T	,	0,4406		0,0,2203	67	59	62		1419,1419	-12	0	6		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSE	NM_001080976.1,NM_013352.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	473/959,473/959	116757050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1419C>T	6.37:g.116757050C>T			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.Y492	ENST00000331677.3	37	c.1476	CCDS5107.1	6																																																																																			DSE	-	NULL		0.448	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116757050	1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.009	T	T	116757050	C	T	116757050	2	4	12	1	0	0	0	0	0	0	0	1	4784	547	19	2		2	DSE	6	116757050	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	88980771	116757050	54358017	31	1391										
REPS1	85021	genome.wustl.edu	37	chr6	139241454	139241454	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gctagtgggatttgtatgatCtaatagagaattaataggta	11	2	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:139241454C>G	ENST00000450536.2	-	12	2001		c.e12-1		REPS1_ENST00000367663.4_Splice_Site|REPS1_ENST00000415951.2_Splice_Site|REPS1_ENST00000258062.5_Splice_Site|REPS1_ENST00000409812.2_Splice_Site			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1						receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTTGTATGATCTAATAGAGAA	0.313																																																	0													110	115	113					6																	139241454		2203	4300	6503	SO:0001630	splice_region_variant	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1427-1G>C	6.37:g.139241454C>G			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Splice_Site	SNP	-	e12-1	ENST00000450536.2	37	c.1427-1		6	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456849	0.63401	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REPS1	139283147	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	6.524000	0.73791	2.798000	0.96311	0.655000	0.94253	.	REPS1	-	-		0.313	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	C		Intron	139241454	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	139241454	C	G	139241454	5	3	12	1	0	0	0	0	0	0	1	0	13258	927	32	1	1000	1	REPS1	6	139241454	Splice_Site	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	22484404	139241454	31873613	32	1392										
SPAG11B	10407	genome.wustl.edu	37	chr8	7308358	7308358	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttctcaccagaatggcagaaAaaaagtctgcagatcccttg	8	10	2	3	rs556400728		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:7308358A>G	ENST00000297498.2	-	0	521				SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Silent_p.F93F|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000398462.2_Silent_p.F93F|SPAG11B_ENST00000458665.1_Silent_p.F40F	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AATGGCAGAAAAAAAGTCTGC	0.423													A|||	1	0.000199681	0	0	5008	,	,		25672	0		0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.*43T>C	8.37:g.7308358A>G			E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Silent	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.F93	ENST00000297498.2	37	c.279	CCDS5966.1	8																																																																																			SPAG11B	-	pfam_Defensin_beta-typ		0.423	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	A	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7308358	-1	no_errors	ENST00000398462	ensembl	human	known	70_37	silent	SNP	0.994	G	G	7308358	A	G	7308358	1	3	12	0	1	0	0	0	0	0	0	0	15007	11	1	5		5	SPAG11B	8	7308358	3'UTR	SNP	A	TCGA-C5-A1BN-01B-11D-A14W-08		7308358	139055664	33	1393										
ADRA1A	148	genome.wustl.edu	37	chr8	26721793	26721793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ccgatggatgcggagcgtcaCttgctccgagtccgacttgt	13	12	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:26721793C>A	ENST00000519229.1	-	1	700	c.694G>T	c.(694-696)Gtg>Ttg	p.V232L	ADRA1A_ENST00000380581.2_Missense_Mutation_p.V232L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V232L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V232L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V232L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V232L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000380573.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V232L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CGGAGCGTCACTTGCTCCGAG	0.617																																																	0													50	46	47					8																	26721793		2203	4300	6503	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.694G>T	8.37:g.26721793C>A	ENSP00000430793:p.Val232Leu		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.V232L	ENST00000519229.1	37	c.694		8	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051632	0.19827	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.61274	0.14;0.7;0.17;0.63;0.14;0.12;0.12;0.12;0.69;0.65	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	N	0.13043	0.29	0.51767	D	0.99993	B;B;B;P;P;P	0.46512	0.077;0.077;0.181;0.46;0.879;0.516	B;B;B;B;B;B	0.41571	0.075;0.075;0.163;0.174;0.36;0.267	T	0.33650	-0.9860	10	0.22706	T	0.39	.	19.053	0.93053	0.0:1.0:0.0:0.0	.	232;232;232;232;232;232	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	L	232	ENSP00000369960:V232L;ENSP00000369961:V232L;ENSP00000369956:V232L;ENSP00000369955:V232L;ENSP00000430793:V232L;ENSP00000346557:V232L;ENSP00000276393:V232L;ENSP00000369947:V232L;ENSP00000369946:V232L;ENSP00000351725:V232L	ENSP00000276393:V232L	V	-	1	0	ADRA1A	26777710	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.554000	0.53720	2.649000	0.89929	0.563000	0.77884	GTG	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	C	NM_033303		26721793	-1	no_errors	ENST00000380586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26721793	C	A	26721793	3	1	12	1	0	0	0	0	1	0	0	0	334	565	20	4	1005	4	ADRA1A	8	26721793	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	19413435	26721793	119642229	34	1394										
CPA6	57094	genome.wustl.edu	37	chr8	68658352	68658352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgcctggcccctgcgcttccCgagacacttcatagtgttaa	9	14	1	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:68658352C>T	ENST00000297770.4	-	1	228	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.G5R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	5						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGCGCTTCCCGAGACACTTC	0.542																																																	0													35	35	35					8																	68658352		2203	4300	6503	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.13G>A	8.37:g.68658352C>T	ENSP00000297770:p.Gly5Arg		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G5R	ENST00000297770.4	37	c.13	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975031	0.18736	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.47177	0.85;0.85	5.09	2.32	0.28847	.	0.474047	0.20156	N	0.098041	T	0.22898	0.0553	N	0.08118	0	0.80722	D	1	B;B	0.21452	0.056;0.003	B;B	0.17433	0.018;0.003	T	0.03619	-1.1019	10	0.35671	T	0.21	.	5.1174	0.14843	0.0:0.6451:0.1708:0.184	.	5;5	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	R	5	ENSP00000297770:G5R;ENSP00000431112:G5R	ENSP00000297770:G5R	G	-	1	0	CPA6	68820906	0.057000	0.20700	0.923000	0.36655	0.351000	0.29236	0.239000	0.18023	0.316000	0.23135	0.655000	0.94253	GGG	CPA6	-	NULL		0.542	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	C	NM_020361		68658352	-1	no_errors	ENST00000297770	ensembl	human	known	70_37	missense	SNP	0.815	T	T	68658352	C	T	68658352	3	4	12	1	0	0	0	0	1	0	0	0	3799	652	23	2	1344	2	CPA6	8	68658352	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	41936559	68658352	77705670	35	1395										
FAM164A	51101	genome.wustl.edu	37	chr8	79598747	79598747	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	attggagaaggaaacatgaaGaattcattgctaccataaga	9	5	1	4			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:79598747G>A	ENST00000263849.4	+	4	358	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	86							metal ion binding (GO:0046872)										GAAACATGAAGAATTCATTGC	0.363																																																	0													64	57	60					8																	79598747		2203	4300	6503	SO:0001583	missense	51101				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.256G>A	8.37:g.79598747G>A	ENSP00000263849:p.Glu86Lys		Q9Y372	Missense_Mutation	SNP	NULL	p.E86K	ENST00000263849.4	37	c.256	CCDS6223.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.300649	0.95601	.	.	ENSG00000104427	ENST00000263849	T	0.46451	0.87	5.35	5.35	0.76521	.	0.046777	0.85682	D	0.000000	T	0.59418	0.2192	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.54918	-0.8221	9	.	.	.	-34.0506	19.429	0.94756	0.0:0.0:1.0:0.0	.	86	Q96GY0	F164A_HUMAN	K	86	ENSP00000263849:E86K	.	E	+	1	0	FAM164A	79761302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.667000	0.90743	0.585000	0.79938	GAA	ZC2HC1A	-	NULL		0.363	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	G	NM_016010		79598747	1	no_errors	ENST00000263849	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79598747	G	A	79598747	3	1	12	1	0	0	0	0	1	0	0	0	5493	943	33	1	270	1	FAM164A	8	79598747	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	10940395	79598747	66765275	36	1396										
RIMS2	9699	genome.wustl.edu	37	chr8	104973324	104973324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ataagtgatagtgaagtctcTgactatgactgtgatgatgg	12	4	1	6			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:104973324T>C	ENST00000436393.2	+	13	2308	c.2067T>C	c.(2065-2067)tcT>tcC	p.S689S	RIMS2_ENST00000507740.1_Silent_p.S703S|RIMS2_ENST00000406091.3_Silent_p.S911S|RIMS2_ENST00000262231.10_Silent_p.S750S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	973	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGAAGTCTCTGACTATGACT	0.303										HNSCC(12;0.0054)																																							0													107	115	112					8																	104973324		1802	4059	5861	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2067T>C	8.37:g.104973324T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.S911	ENST00000436393.2	37	c.2733		8																																																																																			RIMS2	-	NULL		0.303	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	T	NM_001100117		104973324	1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	C	C	104973324	T	C	104973324	2	2	12	1	0	0	0	0	0	0	0	1	13398	1567	55	5		5	RIMS2	8	104973324	Silent	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08	25374577	104973324	41390698	37	1397										
DAPK1	1612	genome.wustl.edu	37	chr9	90220066	90220066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cgaggtctatgagaacaagaCggacgtcatcctgatcttgg	12	9	3	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:90220066C>T	ENST00000408954.3	+	3	595	c.260C>T	c.(259-261)aCg>aTg	p.T87M	DAPK1_ENST00000469640.2_Missense_Mutation_p.T87M|DAPK1_ENST00000358077.5_Missense_Mutation_p.T87M|DAPK1_ENST00000491893.1_Missense_Mutation_p.T87M|DAPK1_ENST00000472284.1_Missense_Mutation_p.T87M	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GAGAACAAGACGGACGTCATC	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													77	76	76					9																	90220066		2199	4300	6499	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.260C>T	9.37:g.90220066C>T	ENSP00000386135:p.Thr87Met		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.T87M	ENST00000408954.3	37	c.260	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055512	0.36277	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123914	0.34676	N	0.003776	T	0.50786	0.1636	L	0.46157	1.445	0.42286	D	0.992116	D;B;D	0.61080	0.967;0.315;0.989	P;B;P	0.53401	0.557;0.124;0.725	T	0.52968	-0.8504	10	0.59425	D	0.04	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	M	87	ENSP00000350785:T87M;ENSP00000417076:T87M;ENSP00000418885:T87M;ENSP00000386135:T87M;ENSP00000419026:T87M	ENSP00000350785:T87M	T	+	2	0	DAPK1	89409886	1.000000	0.71417	0.966000	0.40874	0.324000	0.28378	4.525000	0.60559	2.628000	0.89032	0.511000	0.50034	ACG	DAPK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	C	NM_004938		90220066	1	no_errors	ENST00000469640	ensembl	human	known	70_37	missense	SNP	0.998	T	T	90220066	C	T	90220066	3	4	12	1	0	0	0	0	1	0	0	0	4240	536	19	2	266	2	DAPK1	9	90220066	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		90220066	50993365	38	1398										
OLFML2A	169611	genome.wustl.edu	37	chr9	127570102	127570102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	caccctccgggctgtggaccCccctgtgaggcaccacagct	11	18	0	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:127570102C>T	ENST00000373580.3	+	7	1211	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	OLFML2A_ENST00000288815.5_Missense_Mutation_p.P190L	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	404	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCTGTGGACCCCCCTGTGAGG	0.642																																																	0													42	44	43					9																	127570102		2203	4300	6503	SO:0001583	missense	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1211C>T	9.37:g.127570102C>T	ENSP00000362682:p.Pro404Leu		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.P404L	ENST00000373580.3	37	c.1211	CCDS6857.2	9	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403883	0.42613	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.88586	-2.4;-2.4	5.44	5.44	0.79542	Olfactomedin-like (3);	0.324958	0.30329	N	0.009880	D	0.84288	0.5439	L	0.40543	1.245	0.50313	D	0.999868	B;B	0.20368	0.008;0.044	B;B	0.18263	0.012;0.021	T	0.80238	-0.1465	10	0.44086	T	0.13	.	13.2466	0.60026	0.1586:0.8414:0.0:0.0	.	190;404	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	L	96;404;190	ENSP00000362682:P404L;ENSP00000288815:P190L	ENSP00000288815:P190L	P	+	2	0	OLFML2A	126609923	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.689000	0.25437	2.547000	0.85894	0.655000	0.94253	CCC	OLFML2A	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	C	NM_182487		127570102	1	no_errors	ENST00000373580	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127570102	C	T	127570102	3	4	12	1	0	0	0	0	1	0	0	0	10881	623	22	4	1237	4	OLFML2A	9	127570102	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	37350036	127570102	13643329	39	1399										
PTRH1	138428	genome.wustl.edu	37	chr9	130476435	130476435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gatgtggtccaagatcaggtCggtggctcgatccagcaaca	13	10	1	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:130476435C>T	ENST00000419060.1	-	6	2045	c.589G>A	c.(589-591)Gac>Aac	p.D197N	PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000543175.1_Missense_Mutation_p.D197N|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_Silent_p.P181P|TTC16_ENST00000393748.4_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	197						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						AAGATCAGGTCGGTGGCTCGA	0.667																																																	0													34	35	34					9																	130476435		2203	4299	6502	SO:0001583	missense	138428			AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 115"	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.589G>A	9.37:g.130476435C>T	ENSP00000418661:p.Asp197Asn			Missense_Mutation	SNP	pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro	p.D197N	ENST00000419060.1	37	c.589	CCDS35147.1	9	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850404	0.91277	.	.	ENSG00000187024	ENST00000419060;ENST00000543175	.	.	.	4.76	4.76	0.60689	.	0.296103	0.32430	N	0.006107	T	0.73999	0.3659	L	0.55017	1.72	0.53688	D	0.999975	D	0.76494	0.999	D	0.66847	0.947	T	0.74682	-0.3583	9	0.46703	T	0.11	-19.1742	16.7193	0.85406	0.0:1.0:0.0:0.0	.	197	Q86Y79	PTH_HUMAN	N	197	.	ENSP00000418661:D197N	D	-	1	0	PTRH1	129516256	0.994000	0.37717	0.936000	0.37596	0.929000	0.56500	3.464000	0.53057	2.366000	0.80165	0.462000	0.41574	GAC	PTRH1	-	pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro		0.667	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRH1	HGNC	protein_coding	OTTHUMT00000054219.4	C	NM_001002913		130476435	-1	no_errors	ENST00000419060	ensembl	human	known	70_37	missense	SNP	0.997	T	T	130476435	C	T	130476435	3	4	12	1	0	0	0	0	1	0	0	0	12846	884	31	1	59	1	PTRH1	9	130476435	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	2906333	130476435	10736996	40	1400										
REXO4	57109	genome.wustl.edu	37	chr9	136277936	136277936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttcacgaggctgaggctgacGctgccctcgctctgacccaa	11	15	2	3	rs143883166		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:136277936G>A	ENST00000371942.3	-	3	877	c.678C>T	c.(676-678)agC>agT	p.S226S	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	226					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGAGGCTGACGCTGCCCTCGC	0.622																																																	0								A		3,4403	6.2+/-15.9	0,3,2200	95	69	78		678	1.6	0	9	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	REXO4	NM_020385.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		226/423	136277936	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57109			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.678C>T	9.37:g.136277936G>A			B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S226	ENST00000371942.3	37	c.678	CCDS6969.1	9																																																																																			REXO4	-	NULL		0.622	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	HGNC	protein_coding	OTTHUMT00000054899.1	G			136277936	-1	no_errors	ENST00000371942	ensembl	human	known	70_37	silent	SNP	0.000	A	A	136277936	G	A	136277936	2	1	12	1	0	0	0	0	0	0	0	1	13273	1078	38	2		2	REXO4	9	136277936	Silent	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	5801501	136277936	4935495	41	1401										
BICC1	80114	genome.wustl.edu	37	chr10	60566844	60566844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgggtttttctaaatccatgCcagctgaaactatcaaggag	9	8	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:60566844C>T	ENST00000373886.3	+	17	2306	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	BICC1_ENST00000263103.1_Missense_Mutation_p.P394S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	768					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAAATCCATGCCAGCTGAAAC	0.433																																																	0													118	107	111					10																	60566844		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2302C>T	10.37:g.60566844C>T	ENSP00000362993:p.Pro768Ser			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.P768S	ENST00000373886.3	37	c.2302	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952925	0.92660	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.75367	-0.16;-0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86293	0.1675	10	0.87932	D	0	-12.6119	19.5758	0.95444	0.0:1.0:0.0:0.0	.	688;768	E7EU62;Q9H694	.;BICC1_HUMAN	S	768;394	ENSP00000362993:P768S;ENSP00000263103:P394S	ENSP00000263103:P394S	P	+	1	0	BICC1	60236850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.675000	0.84002	2.632000	0.89209	0.655000	0.94253	CCA	BICC1	-	NULL		0.433	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	C	NM_025044		60566844	1	no_errors	ENST00000373886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60566844	C	T	60566844	3	4	12	1	0	0	0	0	1	0	0	0	1428	739	26	4	2368	4	BICC1	10	60566844	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		60566844	74967903	42	1402										
ANK3	288	genome.wustl.edu	37	chr10	61847994	61847994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ggtgctgctcagaattccacCttcaggaccaatctggttgc	10	12	3	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:61847994C>T	ENST00000280772.2	-	29	3642	c.3451G>A	c.(3451-3453)Ggt>Agt	p.G1151S	ANK3_ENST00000355288.2_Missense_Mutation_p.G285S|ANK3_ENST00000373827.2_Missense_Mutation_p.G1145S|ANK3_ENST00000503366.1_Missense_Mutation_p.G1152S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1151	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAATTCCACCTTCAGGACCA	0.483																																																	0													134	134	134					10																	61847994		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3451G>A	10.37:g.61847994C>T	ENSP00000280772:p.Gly1151Ser		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1151S	ENST00000280772.2	37	c.3451	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.867939	0.97043	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.17	6.17	0.99709	.	0.000000	0.42964	D	0.000624	T	0.67552	0.2905	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.999;0.999;1.0;0.998;0.997;0.998	T	0.72507	-0.4272	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1152;285;684;1145;1151;386;285	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	S	1151;1145;285;285;1152;1131;386;786;786;284;684	ENSP00000280772:G1151S;ENSP00000362933:G1145S;ENSP00000347436:G285S;ENSP00000425236:G1152S	ENSP00000280772:G1151S	G	-	1	0	ANK3	61518000	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	GGT	ANK3	-	NULL		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61847994	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61847994	C	T	61847994	3	4	12	1	0	0	0	0	1	0	0	0	622	681	24	4	10055	4	ANK3	10	61847994	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	1281150	61847994	73686753	43	1403										
ABLIM1	3983	genome.wustl.edu	37	chr10	116203811	116203811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	agttgatgggagaatcgtagCgactggctaacagagatgac	14	6	0	4	rs138272125	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:116203811C>T	ENST00000277895.5	-	17	2007	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ABLIM1_ENST00000533213.2_Missense_Mutation_p.R577H|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R314H|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R314H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R577H|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R260H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	637			R -> G (in dbSNP:rs7091419).		axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGAATCGTAGCGACTGGCTAA	0.502																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	186	184	184		1730,1814,1910,941	5.8	1	10	dbSNP_134	184	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	29,29,29,29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	577/719,605/747,637/779,314/456	116203811	4,13002	2203	4300	6503	SO:0001583	missense	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1910G>A	10.37:g.116203811C>T	ENSP00000277895:p.Arg637His		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R705H	ENST00000277895.5	37	c.2114	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.982584|4.982584	0.93044|0.93044	2.27E-4|2.27E-4	3.49E-4|3.49E-4	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58836|0.58836	0.2150|0.2150	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;B;D	.|0.89917	.|0.992;1.0;0.999;0.999;0.996;1.0;1.0;0.144;1.0	.|P;D;D;D;P;D;D;B;D	.|0.91635	.|0.66;0.929;0.946;0.932;0.731;0.984;0.972;0.017;0.999	T|T	0.57318|0.57318	-0.7832|-0.7832	5|10	.|0.46703	.|T	.|0.11	.|.	18.2155|18.2155	0.89884|0.89884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|514;239;577;605;637;314;607;561;260	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	T|H	511|637;577;314;260;605;577;705;561;314;561;514;705;389	.|ENSP00000358256:R577H;ENSP00000376679:R314H;ENSP00000433629:R577H;ENSP00000358270:R314H	.|ENSP00000277895:R705H	A|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116193801|116193801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	6.282000|6.282000	0.72639|0.72639	2.735000|2.735000	0.93741|0.93741	0.591000|0.591000	0.81541|0.81541	GCT|CGC	ABLIM1	-	NULL		0.502	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	C			116203811	-1	no_errors	ENST00000277895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116203811	C	T	116203811	3	4	12	1	0	0	0	0	1	0	0	0	94	768	27	2	450	2	ABLIM1	10	116203811	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	54355817	116203811	19330936	44	1404										
INPP5F	79892	genome.wustl.edu	37	chr10	121586539	121586539	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gctaactcattagagagtgtAgggccaatagattacgttct	10	7	2	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:121586539A>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Silent_p.V272V|INPP5F_ENST00000361976.2_Silent_p.V882V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAGAGAGTGTAGGGCCAATAG	0.453																																																	0													162	134	143					10																	121586539		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586539A>T			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.V882	ENST00000360003.3	37	c.2646	CCDS7617.1	10																																																																																			INPP5F	-	NULL		0.453	MCMBP-002	KNOWN	basic|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050684.1	A	NM_024834		121586539	1	no_errors	ENST00000361976	ensembl	human	known	70_37	silent	SNP	0.241	T	T	121586539	A	T	121586539	1	4	12	0	1	0	0	0	0	0	0	0	7778	407	15	5		5	INPP5F	10	121586539	IGR	SNP	A	TCGA-C5-A1BN-01B-11D-A14W-08	5382728	121586539	13948208	45	1405										
C11orf57	55216	genome.wustl.edu	37	chr11	111948979	111948979	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gtggaaaataagagaactggAaaaacagatggaagatgctt	12	3	0	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:111948979A>C	ENST00000280352.9	+	3	746	c.110A>C	c.(109-111)gAa>gCa	p.E37A	C11orf57_ENST00000420986.2_Missense_Mutation_p.E37A|C11orf57_ENST00000532163.1_Missense_Mutation_p.E8A|C11orf57_ENST00000530104.1_Missense_Mutation_p.E37A|C11orf57_ENST00000393047.3_Missense_Mutation_p.E37A	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	37										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAGAACTGGAAAAACAGATG	0.333																																																	0													56	59	58					11																	111948979		2201	4297	6498	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.110A>C	11.37:g.111948979A>C	ENSP00000339076:p.Glu37Ala		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.E37A	ENST00000280352.9	37	c.110	CCDS41715.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590571	0.86851	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047;ENST00000525785	.	.	.	5.54	5.54	0.83059	.	0.110880	0.64402	D	0.000008	T	0.78291	0.4260	M	0.70275	2.135	0.48236	D	0.999614	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.995	T	0.80797	-0.1222	9	0.72032	D	0.01	-3.5588	15.3327	0.74226	1.0:0.0:0.0:0.0	.	37;37;37	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	A	37;8;37;37;37;37;8	.	ENSP00000339076:E37A	E	+	2	0	C11orf57	111454189	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.393000	0.79851	2.096000	0.63516	0.482000	0.46254	GAA	C11orf57	-	NULL		0.333	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	A	NM_018195		111948979	1	no_errors	ENST00000393047	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111948979	A	C	111948979	3	2	12	1	0	0	0	0	1	0	0	0	1654	246	9	5	116	5	C11orf57	11	111948979	Missense_Mutation	SNP	A	TCGA-C5-A1BN-01B-11D-A14W-08		111948979	23057537	46	1406										
POU2F3	25833	genome.wustl.edu	37	chr11	120186099	120186099	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tcagggtctctgggccccctCtctgtccctcctgtccacag	9	18	3	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:120186099C>G	ENST00000543440.2	+	11	1248	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	POU2F3_ENST00000260264.4_Silent_p.L368L	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	366	Ser-rich.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TGGGCCCCCTCTCTGTCCCTC	0.438																																																	0													121	110	114					11																	120186099		2203	4299	6502	SO:0001819	synonymous_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1098C>G	11.37:g.120186099C>G			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.L368	ENST00000543440.2	37	c.1104	CCDS8431.1	11																																																																																			POU2F3	-	NULL		0.438	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120186099	1	no_errors	ENST00000543440	ensembl	human	known	70_37	silent	SNP	1.000	G	G	120186099	C	G	120186099	2	3	12	1	0	0	0	0	0	0	0	1	12297	900	32	1		1	POU2F3	11	120186099	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	8237120	120186099	14820417	47	1407										
SLC26A10	65012	genome.wustl.edu	37	chr12	58019065	58019065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ctagacttcagtggtgtcacCtttgcagatgctgctggggc	13	10	2	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:58019065C>T	ENST00000320442.4	+	12	1736	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	475	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTGGTGTCACCTTTGCAGATG	0.542																																																	0													219	200	206					12																	58019065		2203	4300	6503	SO:0001819	synonymous_variant	65012				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1425C>T	12.37:g.58019065C>T			A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.T475	ENST00000320442.4	37	c.1425	CCDS8949.2	12																																																																																			SLC26A10	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.542	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	HGNC	protein_coding	OTTHUMT00000250311.2	C			58019065	1	no_errors	ENST00000320442	ensembl	human	known	70_37	silent	SNP	0.806	T	T	58019065	C	T	58019065	2	4	12	1	0	0	0	0	0	0	0	1	14545	668	24	4		4	SLC26A10	12	58019065	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		58019065	75832830	48	1408										
COQ5	84274	genome.wustl.edu	37	chr12	120966892	120966892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ggcagccccgcatcgcccgcGaccacccacggccgcaatag	11	20	0	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:120966892G>A	ENST00000288532.6	-	1	93	c.53C>T	c.(52-54)tCg>tTg	p.S18L	COQ5_ENST00000445328.2_Missense_Mutation_p.S18L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	18					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCGCCCGCGACCACCCACG	0.647																																																	0													27	31	30					12																	120966892		2202	4300	6502	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.53C>T	12.37:g.120966892G>A	ENSP00000288532:p.Ser18Leu		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.S18L	ENST00000288532.6	37	c.53	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253668	0.59212	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.77098	-0.04;-1.07;-0.1	5.76	0.0377	0.14197	.	1.209060	0.05284	N	0.519938	T	0.61375	0.2342	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.04013	0.001;0.001	T	0.39840	-0.9594	10	0.18276	T	0.48	.	3.784	0.08692	0.1577:0.4518:0.2672:0.1233	.	18;18	B4DP72;Q5HYK3	.;COQ5_HUMAN	L	18	ENSP00000288532:S18L;ENSP00000401798:S18L;ENSP00000449874:S18L	ENSP00000288532:S18L	S	-	2	0	COQ5	119451275	0.002000	0.14202	0.096000	0.21009	0.276000	0.26787	-0.439000	0.06897	0.331000	0.23511	0.655000	0.94253	TCG	COQ5	-	NULL		0.647	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	G	NM_032314		120966892	-1	no_errors	ENST00000288532	ensembl	human	known	70_37	missense	SNP	0.005	A	A	120966892	G	A	120966892	3	1	12	1	0	0	0	0	1	0	0	0	3753	1059	37	1	958	1	COQ5	12	120966892	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	62947827	120966892	12885003	49	1409										
TUBA3C	7278	genome.wustl.edu	37	chr13	19751573	19751573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ggtcaggatggagttgtaggGctccaccacggccgtggaga	17	9	1	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:19751573G>T	ENST00000400113.3	-	4	654	c.550C>A	c.(550-552)Ccc>Acc	p.P184T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	184					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGTTGTAGGGCTCCACCACG	0.547																																																	0													155	155	155					13																	19751573		2203	4300	6503	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.550C>A	13.37:g.19751573G>T	ENSP00000382982:p.Pro184Thr		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.P184T	ENST00000400113.3	37	c.550	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	10.46	1.356373	0.24598	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70986	-0.53	1.19	1.19	0.21007	.	0.000000	0.47852	U	0.000215	T	0.73923	0.3649	.	.	.	0.44234	D	0.997074	.	.	.	.	.	.	T	0.74928	-0.3497	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	T	184	ENSP00000382982:P184T	ENSP00000354037:P184T	P	-	1	0	TUBA3C	18649573	1.000000	0.71417	0.998000	0.56505	0.471000	0.32888	7.867000	0.87062	0.966000	0.38159	0.162000	0.16502	CCC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	G	NM_006001		19751573	-1	no_errors	ENST00000400113	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19751573	G	T	19751573	3	4	12	1	0	0	0	0	1	0	0	0	16777	1203	42	4	810	4	TUBA3C	13	19751573	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		19751573	95418305	50	1410										
FAM48A	55578	genome.wustl.edu	37	chr13	37614596	37614596	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgtacatcacaaattaaagtCtagaagaaataaaaatttaa	4	4	2	2	rs373195984		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:37614596C>A	ENST00000350612.6	-	9	734		c.e9-1		SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000360252.4_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000542180.1_Splice_Site	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										AAATTAAAGTCTAGAAGAAAT	0.259																																																	0								C	,	0,4390		0,0,2195	32	36	35		,	5.9	1	13		35	1,8583	1.2+/-3.3	0,1,4291	no	splice-3,splice-3	FAM48A	NM_001014286.2,NM_017569.3	,	0,1,6486	AA,AC,CC		0.0116,0.0,0.0077	,	,	37614596	1,12973	2195	4292	6487	SO:0001630	splice_region_variant	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.514-1G>T	13.37:g.37614596C>A			E7ER46|Q71RF3|Q9Y6A6	Splice_Site	SNP	-	e8-1	ENST00000350612.6	37	c.514-1	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132708	0.77662	0.0	1.16E-4	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3129	0.98645	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM48A	36512596	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.028000	0.70889	2.800000	0.96347	0.650000	0.86243	.	FAM48A	-	-		0.259	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	C	NM_017569	Intron	37614596	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	37614596	C	A	37614596	5	1	12	1	0	0	0	0	0	0	1	0	5590	927	32	3	1898	3	FAM48A	13	37614596	Splice_Site	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	17863023	37614596	77555282	51	1411										
ACTN1	87	genome.wustl.edu	37	chr14	69349243	69349243	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	aaactgcttgcgtagcctctCattgtgctgctgtcgggcat	11	11	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:69349243C>A	ENST00000193403.6	-	16	2268	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	ACTN1_ENST00000394419.4_Nonsense_Mutation_p.E629*|ACTN1_ENST00000538545.2_Nonsense_Mutation_p.E629*|ACTN1_ENST00000376839.3_Nonsense_Mutation_p.E564*|ACTN1_ENST00000438964.2_Nonsense_Mutation_p.E629*	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	629	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTAGCCTCTCATTGTGCTGC	0.622																																																	0													81	54	63					14																	69349243		2203	4300	6503	SO:0001587	stop_gained	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1885G>T	14.37:g.69349243C>A	ENSP00000193403:p.Glu629*		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E629*	ENST00000193403.6	37	c.1885	CCDS9792.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.145895|6.145895|6.145895	0.97324|0.97324|0.97324	.|.|.	.|.|.	ENSG00000072110|ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075|ENST00000553290	.|.|.	.|.|.	.|.|.	5.5|5.5|5.5	4.61|4.61|4.61	0.57282|0.57282|0.57282	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.71685|.	.|0.3369|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.74942|.	.|-0.3492|.	.|3|.	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	16.5229|16.5229|16.5229	0.84322|0.84322|0.84322	0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	629;629;629;564;629|14|68	.|.|.	ENSP00000193403:E629X|.|.	E|M|X	-|-|-	1|3|2	0|0|2	ACTN1|ACTN1|ACTN1	68418996|68418996|68418996	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.924000|0.924000|0.924000	0.36721|0.36721|0.36721	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	7.651000|7.651000|7.651000	0.83577|0.83577|0.83577	1.546000|1.546000|1.546000	0.49388|0.49388|0.49388	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|ATG|TGA	ACTN1	-	NULL		0.622	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	C	NM_001102		69349243	-1	no_errors	ENST00000394419	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	69349243	C	A	69349243	4	1	12	1	0	0	0	0	0	1	0	0	204	835	29	3	887	3	ACTN1	14	69349243	Nonsense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		69349243	38000297	52	1412										
MGA	23269	genome.wustl.edu	37	chr15	41988737	41988737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	agaattggaatatttgcctaCatacattgaaaattccaatg	6	6	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr15:41988737C>T	ENST00000570161.1	+	2	1529	c.1529C>T	c.(1528-1530)aCa>aTa	p.T510I	MGA_ENST00000545763.1_Missense_Mutation_p.T510I|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000219905.7_Missense_Mutation_p.T510I|MGA_ENST00000566586.1_Missense_Mutation_p.T510I|MGA_ENST00000389936.4_Missense_Mutation_p.T510I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTTGCCTACATACATTGAA	0.378																																																	0													74	68	70					15																	41988737		1846	4097	5943	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1529C>T	15.37:g.41988737C>T	ENSP00000457035:p.Thr510Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.T510I	ENST00000570161.1	37	c.1529	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468944	0.26335	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84070	-1.8;-1.8;-1.8	5.54	3.56	0.40772	.	1.213840	0.05890	N	0.628044	T	0.73225	0.3560	N	0.19112	0.55	0.09310	N	1	B;B	0.18166	0.026;0.001	B;B	0.21360	0.034;0.003	T	0.62374	-0.6868	10	0.87932	D	0	.	6.352	0.21381	0.0:0.6732:0.1539:0.1729	.	510;510	F5H7K2;E7ENI0	.;.	I	510	ENSP00000219905:T510I;ENSP00000374586:T510I;ENSP00000442467:T510I	ENSP00000219905:T510I	T	+	2	0	MGA	39776029	0.000000	0.05858	0.216000	0.23742	0.985000	0.73830	0.281000	0.18810	1.352000	0.45808	0.462000	0.41574	ACA	MGA	-	NULL		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41988737	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.002	T	T	41988737	C	T	41988737	3	4	12	1	0	0	0	0	1	0	0	0	9563	478	17	4	1535	4	MGA	15	41988737	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		41988737	60542655	53	1413										
KIAA0430	9665	genome.wustl.edu	37	chr16	15704957	15704957	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cagtgacatcccagtcctttGagaaacacctaggttttaac	7	11	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:15704957G>C	ENST00000396368.3	-	19	3832	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*	KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.S1206*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.S811*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.S1206*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.S1209*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.S1044*|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1209	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAGTCCTTTGAGAAACACCT	0.458																																																	0													140	127	131					16																	15704957		1907	4128	6035	SO:0001587	stop_gained	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3626C>G	16.37:g.15704957G>C	ENSP00000379654:p.Ser1209*		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1209*	ENST00000396368.3	37	c.3626	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	43	10.274573	0.99373	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.2749	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	X	1209;1044;1149;811;1206;1209;989	.	ENSP00000315718:S1149X	S	-	2	0	KIAA0430	15612458	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.711000	0.91396	2.555000	0.86185	0.448000	0.29417	TCA	KIAA0430	-	NULL		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15704957	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	15704957	G	C	15704957	4	2	12	1	0	0	0	0	0	1	0	0	8197	1294	45	1	1638	1	KIAA0430	16	15704957	Nonsense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		15704957	74649796	54	1414										
LCMT1	51451	genome.wustl.edu	37	chr16	25186283	25186283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	aatcacttgaattcctggatGaaatggagctgctggagcag	12	7	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:25186283G>A	ENST00000399069.3	+	10	1065	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.E249K	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	304					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATTCCTGGATGAAATGGAGCT	0.443																																					Colon(200;565 2072 24396 47922 50898)												0													58	58	58					16																	25186283		1865	4102	5967	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.910G>A	16.37:g.25186283G>A	ENSP00000382021:p.Glu304Lys		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.E304K	ENST00000399069.3	37	c.910	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834753	0.71373	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.27890	1.64;1.64	5.04	4.08	0.47627	.	0.053076	0.64402	N	0.000001	T	0.63379	0.2506	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.71148	-0.4677	10	0.87932	D	0	-15.6304	9.9226	0.41472	0.0949:0.0:0.9051:0.0	.	249;304	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	K	304;249;321	ENSP00000382021:E304K;ENSP00000370353:E249K	ENSP00000370349:E321K	E	+	1	0	LCMT1	25093784	1.000000	0.71417	0.996000	0.52242	0.524000	0.34500	7.789000	0.85783	1.268000	0.44264	-0.150000	0.13652	GAA	LCMT1	-	pirsf_Leu_CO_MeTrfase_LCTM1		0.443	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25186283	1	no_errors	ENST00000399069	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25186283	G	A	25186283	3	1	12	1	0	0	0	0	1	0	0	0	8698	1291	45	1	948	1	LCMT1	16	25186283	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	9481326	25186283	65168470	55	1415										
ATP2A1	487	genome.wustl.edu	37	chr16	28913228	28913228	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cctgccctgaagaaggctgaGattggcattgccatgggatc	13	10	0	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:28913228G>C	ENST00000357084.3	+	16	2412	c.2145G>C	c.(2143-2145)gaG>gaC	p.E715D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.E590D|ATP2A1_ENST00000395503.4_Missense_Mutation_p.E715D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	715					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAAGGCTGAGATTGGCATTG	0.572																																																	0													80	64	70					16																	28913228		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2145G>C	16.37:g.28913228G>C	ENSP00000349595:p.Glu715Asp		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.E715D	ENST00000357084.3	37	c.2145	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98550	-4.99;-4.99;-4.99	5.27	-0.0935	0.13649	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	N	0.00778	-1.195	0.45439	D	0.99841	B;B;B	0.21821	0.061;0.0;0.001	B;B;B	0.27262	0.078;0.004;0.004	T	0.82323	-0.0514	10	0.02654	T	1	.	10.0278	0.42081	0.3613:0.0:0.6387:0.0	.	590;715;715	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	715;715;752;590	ENSP00000349595:E715D;ENSP00000378879:E715D;ENSP00000443101:E590D	ENSP00000349595:E715D	E	+	3	2	ATP2A1	28820729	1.000000	0.71417	0.929000	0.37066	0.977000	0.68977	4.072000	0.57563	0.236000	0.21180	0.561000	0.74099	GAG	ATP2A1	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.572	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	G	NM_004320		28913228	1	no_errors	ENST00000357084	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28913228	G	C	28913228	3	2	12	1	0	0	0	0	1	0	0	0	1137	933	33	1	2207	1	ATP2A1	16	28913228	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	3726945	28913228	61441525	56	1416										
MYH8	4626	genome.wustl.edu	37	chr17	10304986	10304986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ttggctgtcagctcagcattGatctcttcctcctcctcagc	7	15	4	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:10304986G>C	ENST00000403437.2	-	23	2899	c.2805C>G	c.(2803-2805)atC>atG	p.I935M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	935					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCAGCATTGATCTCTTCCT	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													376	358	364					17																	10304986		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2805C>G	17.37:g.10304986G>C	ENSP00000384330:p.Ile935Met		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I935M	ENST00000403437.2	37	c.2805	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.446547	0.01089	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91124	-2.79	5.31	3.19	0.36642	.	0.161280	0.28398	N	0.015488	T	0.78246	0.4253	N	0.11255	0.115	0.34298	D	0.684043	B	0.02656	0.0	B	0.06405	0.002	T	0.74182	-0.3748	10	0.13853	T	0.58	.	10.5862	0.45284	0.0:0.3014:0.5738:0.1247	.	935	P13535	MYH8_HUMAN	M	935	ENSP00000384330:I935M	ENSP00000252173:I935M	I	-	3	3	MYH8	10245711	0.201000	0.23410	1.000000	0.80357	0.996000	0.88848	-0.480000	0.06559	1.473000	0.48159	0.591000	0.81541	ATC	MYH8	-	NULL		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10304986	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10304986	G	C	10304986	3	2	12	1	0	0	0	0	1	0	0	0	10064	1280	45	1	3080	1	MYH8	17	10304986	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		10304986	70890224	57	1417										
TRAF4	9618	genome.wustl.edu	37	chr17	27075426	27075426	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tactgcactaaggagttcgtCtttgacaccatccaggtgag	10	10	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:27075426C>G	ENST00000262395.5	+	5	738	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TRAF4_ENST00000444415.3_Silent_p.V203V|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	203					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGGAGTTCGTCTTTGACACCA	0.597																																																	0													77	59	65					17																	27075426		2203	4300	6503	SO:0001819	synonymous_variant	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.609C>G	17.37:g.27075426C>G			O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V203	ENST00000262395.5	37	c.609	CCDS11243.1	17																																																																																			TRAF4	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.597	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	C	NM_145751		27075426	1	no_errors	ENST00000262395	ensembl	human	known	70_37	silent	SNP	1.000	G	G	27075426	C	G	27075426	2	3	12	1	0	0	0	0	0	0	0	1	16474	900	32	1		1	TRAF4	17	27075426	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	16770440	27075426	54119784	58	1418										
KIAA1267	284058	genome.wustl.edu	37	chr17	44115926	44115926	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	atgtgctggctgtaacctgtGagctagagctggcgggtgca	16	8	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:44115926G>T	ENST00000262419.6	-	10	2989	c.2519C>A	c.(2518-2520)tCa>tAa	p.S840*	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S840*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S134*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S840*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S777*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S840*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	840					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGTAACCTGTGAGCTAGAGCT	0.602																																																	0													97	85	89					17																	44115926		2203	4300	6503	SO:0001587	stop_gained	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2519C>A	17.37:g.44115926G>T	ENSP00000262419:p.Ser840*		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	NULL	p.S840*	ENST00000262419.6	37	c.2519	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	52	19.855660	0.99924	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	6.03	6.03	0.97812	.	0.550372	0.20679	N	0.087686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7421	17.2897	0.87152	0.0:0.0:1.0:0.0	.	.	.	.	X	840;840;134	.	ENSP00000262419:S840X	S	-	2	0	KIAA1267	41471773	1.000000	0.71417	0.987000	0.45799	0.271000	0.26615	5.561000	0.67339	2.861000	0.98227	0.655000	0.94253	TCA	KANSL1	-	NULL		0.602	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44115926	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	nonsense	SNP	0.989	T	T	44115926	G	T	44115926	4	4	12	1	0	0	0	0	0	1	0	0	8239	1294	45	3	822	3	KIAA1267	17	44115926	Nonsense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	17040500	44115926	37079284	59	1419										
GALK1	2584	genome.wustl.edu	37	chr17	73754155	73754155	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cctcacaagcacagcaccttGgctccatcggctgcttgaga	9	15	1	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:73754155G>T	ENST00000588479.1	-	8	1735	c.1161C>A	c.(1159-1161)gcC>gcA	p.A387A	GALK1_ENST00000225614.2_Silent_p.A387A|GALK1_ENST00000437911.1_Silent_p.A417A			P51570	GALK1_HUMAN	galactokinase 1	387					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAGCACCTTGGCTCCATCGG	0.667																																																	0													45	42	43					17																	73754155		2202	4299	6501	SO:0001819	synonymous_variant	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.1161C>A	17.37:g.73754155G>T			B2RC07|B4E1G6	Silent	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.A417	ENST00000588479.1	37	c.1251	CCDS11728.1	17																																																																																			GALK1	-	pirsf_Galactokinase		0.667	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73754155	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	silent	SNP	0.998	T	T	73754155	G	T	73754155	2	4	12	1	0	0	0	0	0	0	0	1	6222	1335	47	4		4	GALK1	17	73754155	Silent	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	29638229	73754155	7441055	60	1420										
UNK	85451	genome.wustl.edu	37	chr17	73819469	73819469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgcaggtgaagaagctccagGaggagctggagcggctacac	16	9	0	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:73819469G>A	ENST00000589666.1	+	15	2253	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	UNK_ENST00000293218.3_Missense_Mutation_p.E791K	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	715							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGCTCCAGGAGGAGCTGGA	0.711																																																	0													11	16	14					17																	73819469		1945	4145	6090	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2143G>A	17.37:g.73819469G>A	ENSP00000464893:p.Glu715Lys			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E791K	ENST00000589666.1	37	c.2371	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322444	0.81580	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.55481	1.735	0.58432	D	0.999999	P	0.51791	0.948	B	0.43783	0.431	T	0.59150	-0.7508	9	0.34782	T	0.22	-0.9043	17.6275	0.88097	0.0:0.0:1.0:0.0	.	715	Q9C0B0	UNK_HUMAN	K	791	.	ENSP00000293218:E791K	E	+	1	0	UNK	71331064	1.000000	0.71417	0.992000	0.48379	0.591000	0.36615	7.102000	0.77005	2.388000	0.81334	0.563000	0.77884	GAG	UNK	-	NULL		0.711	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73819469	1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73819469	G	A	73819469	3	1	12	1	0	0	0	0	1	0	0	0	17031	1175	41	1	2433	1	UNK	17	73819469	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	65314	73819469	7375741	61	1421										
ZBTB7C	201501	genome.wustl.edu	37	chr18	45555962	45555962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ggccgcccacctcgcccagcGcagggggcatcacgaaggcc	14	18	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr18:45555962G>A	ENST00000588982.1	-	4	2030	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.A510V|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.A510V|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.A510V|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.A510V			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	510							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCGCCCAGCGCAGGGGGCAT	0.786																																																	0													3	4	3					18																	45555962		1634	3343	4977	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1529C>T	18.37:g.45555962G>A	ENSP00000468782:p.Ala510Val		O73453	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A510V	ENST00000588982.1	37	c.1529	CCDS32830.1	18	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866608	0.32977	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.12672	2.66;2.66	4.51	4.51	0.55191	.	0.187337	0.26156	N	0.026010	T	0.09379	0.0231	N	0.14661	0.345	0.20403	N	0.999906	B;B	0.15141	0.012;0.012	B;B	0.10450	0.005;0.005	T	0.22556	-1.0213	10	0.56958	D	0.05	.	13.0174	0.58766	0.0:0.1624:0.8376:0.0	.	510;510	B2RG49;A1YPR0	.;ZBT7C_HUMAN	V	510	ENSP00000439781:A510V;ENSP00000328732:A510V	ENSP00000328732:A510V	A	-	2	0	ZBTB7C	43809960	0.875000	0.30112	0.976000	0.42696	0.449000	0.32228	3.698000	0.54771	2.059000	0.61396	0.555000	0.69702	GCG	ZBTB7C	-	NULL		0.786	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	G	NM_001039360		45555962	-1	no_errors	ENST00000332053	ensembl	human	known	70_37	missense	SNP	0.340	A	A	45555962	G	A	45555962	3	1	12	1	0	0	0	0	1	0	0	0	17585	1087	38	2	334	2	ZBTB7C	18	45555962	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		45555962	32521286	62	1422										
MEX3D	399664	genome.wustl.edu	37	chr19	1555705	1555705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cgcagccatcacctcgccctCggcgcacaccacgcactctc	7	22	2	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:1555705C>T	ENST00000402693.4	-	2	1812	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA|MEX3D_ENST00000388824.6_Missense_Mutation_p.E605K	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	605					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCGCCCTCGGCGCACACC	0.736																																																	0													8	8	8					19																	1555705		2136	4196	6332	SO:0001583	missense	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.1813G>A	19.37:g.1555705C>T	ENSP00000384398:p.Glu605Lys		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E605K	ENST00000402693.4	37	c.1813	CCDS32865.2	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363909	0.82353	.	.	ENSG00000181588	ENST00000402693;ENST00000388824	T;T	0.79554	-1.28;-1.28	3.72	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.061993	0.64402	U	0.000005	D	0.88066	0.6337	M	0.78916	2.43	0.49389	D	0.999781	D	0.89917	1.0	D	0.87578	0.998	D	0.87654	0.2530	10	0.87932	D	0	.	11.0496	0.47878	0.1872:0.8128:0.0:0.0	.	605	Q86XN8	MEX3D_HUMAN	K	605	ENSP00000384398:E605K;ENSP00000373476:E605K	ENSP00000373476:E605K	E	-	1	0	MEX3D	1506705	1.000000	0.71417	0.414000	0.26521	0.994000	0.84299	7.172000	0.77604	0.503000	0.28060	0.561000	0.74099	GAG	MEX3D	-	pfscan_Znf_RING		0.736	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	C	NM_203304		1555705	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	missense	SNP	0.995	T	T	1555705	C	T	1555705	3	4	12	1	0	0	0	0	1	0	0	0	9535	893	31	1	209	1	MEX3D	19	1555705	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		1555705	57573278	63	1423										
ACP5	54	genome.wustl.edu	37	chr19	11685947	11685947	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	aaagccacccagtgagtcttCagtcccatagtggaagcgca	10	12	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:11685947C>T	ENST00000592828.1	-	7	1258	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.E286K|ACP5_ENST00000433365.2_Missense_Mutation_p.E286K|ACP5_ENST00000590420.1_Silent_p.L43L|ACP5_ENST00000412435.2_Missense_Mutation_p.E286K	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	286					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AGTGAGTCTTCAGTCCCATAG	0.567																																																	0													99	86	91					19																	11685947		2203	4300	6503	SO:0001583	missense	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.856G>A	19.37:g.11685947C>T	ENSP00000468767:p.Glu286Lys		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.E286K	ENST00000592828.1	37	c.856	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	C	1.164	-0.643060	0.03531	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.70045	-0.45;-0.45;-0.45	4.82	2.57	0.30868	.	0.593369	0.17259	N	0.180857	T	0.48909	0.1526	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.07990	T	0.79	-5.1212	5.2619	0.15578	0.0:0.4722:0.313:0.2147	.	286	P13686	PPA5_HUMAN	K	286	ENSP00000218758:E286K;ENSP00000392374:E286K;ENSP00000413456:E286K	ENSP00000218758:E286K	E	-	1	0	ACP5	11546947	0.080000	0.21391	0.036000	0.18154	0.581000	0.36288	1.309000	0.33539	1.027000	0.39758	0.550000	0.68814	GAA	ACP5	-	NULL		0.567	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	C			11685947	-1	no_errors	ENST00000218758	ensembl	human	known	70_37	missense	SNP	0.004	T	T	11685947	C	T	11685947	3	4	12	1	0	0	0	0	1	0	0	0	164	835	29	1	125	1	ACP5	19	11685947	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	10130242	11685947	47443036	64	1424										
EMR2	30817	genome.wustl.edu	37	chr19	14863254	14863254	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ctggatggctttacacaggaGaaaagtgagggccgccagga	15	8	0	2	rs143243021	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:14863254G>C	ENST00000315576.3	-	15	2126	c.1675C>G	c.(1675-1677)Ctc>Gtc	p.L559V	EMR2_ENST00000346057.1_Missense_Mutation_p.L510V|EMR2_ENST00000353005.1_Missense_Mutation_p.L417V|EMR2_ENST00000596991.2_Missense_Mutation_p.L548V|EMR2_ENST00000601345.1_Missense_Mutation_p.L548V|EMR2_ENST00000595839.1_Missense_Mutation_p.L417V|EMR2_ENST00000392964.3_Missense_Mutation_p.S223C|EMR2_ENST00000594076.1_Missense_Mutation_p.L466V|EMR2_ENST00000392965.3_Missense_Mutation_p.L501V|EMR2_ENST00000353876.1_Missense_Mutation_p.L466V|EMR2_ENST00000392967.2_Missense_Mutation_p.L548V|EMR2_ENST00000594294.1_Missense_Mutation_p.L510V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	559					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TTACACAGGAGAAAAGTGAGG	0.587																																																	0								G	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	4,4402	6.2+/-15.9	0,4,2199	107	96	100		1675,1528,1396,1249,1642,1495,1363	4.2	1	19	dbSNP_134	100	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	32,32,32,32,32,32,32	0,4,6499	CC,CG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	559/824,510/775,466/731,417/682,548/813,499/764,455/720	14863254	4,13002	2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1675C>G	19.37:g.14863254G>C	ENSP00000319883:p.Leu559Val		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L559V	ENST00000315576.3	37	c.1675	CCDS32935.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.912|8.912	0.958842|0.958842	0.18507|0.18507	9.08E-4|9.08E-4	0.0|0.0	ENSG00000127507|ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965|ENST00000392964;ENST00000392962	T;T;T;T;T;T|T;T	0.39056|0.79653	1.1;1.1;1.1;1.1;1.1;1.1|1.1;-1.29	4.22|4.22	4.22|4.22	0.49857|0.49857	GPCR, family 2-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.86497|0.86497	0.5947|0.5947	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;P;D;D;D;D|.	0.89917|.	1.0;0.995;1.0;0.937;0.996;0.997;1.0;0.997|.	D;D;D;P;D;D;D;D|.	0.97110|.	0.999;0.962;1.0;0.743;0.983;0.987;0.996;0.945|.	D|D	0.87234|0.87234	0.2262|0.2262	9|7	0.66056|0.48119	D|T	0.02|0.1	.|.	14.4511|14.4511	0.67385|0.67385	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;466;559;417;510;559;559;548|.	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2|.	.;.;.;.;.;.;EMR2_HUMAN;.|.	V|C	559;548;510;466;417;501|223;377	ENSP00000319883:L559V;ENSP00000376694:L548V;ENSP00000263380:L510V;ENSP00000319454:L466V;ENSP00000319838:L417V;ENSP00000376692:L501V|ENSP00000376691:S223C;ENSP00000376689:S377C	ENSP00000319883:L559V|ENSP00000376689:S377C	L|S	-|-	1|2	0|0	EMR2|EMR2	14724254|14724254	0.019000|0.019000	0.18553|0.18553	0.991000|0.991000	0.47740|0.47740	0.043000|0.043000	0.13939|0.13939	-0.113000|-0.113000	0.10774|0.10774	2.064000|2.064000	0.61679|0.61679	0.508000|0.508000	0.49915|0.49915	CTC|TCT	EMR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	G			14863254	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	missense	SNP	0.998	C	C	14863254	G	C	14863254	3	2	12	1	0	0	0	0	1	0	0	0	5117	942	33	1	824	1	EMR2	19	14863254	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	3177307	14863254	44265729	65	1425										
F2RL3	9002	genome.wustl.edu	37	chr19	17001291	17001291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	agctgcgtggatcccttcatCtactactacgtgtcggccga	10	13	2	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:17001291C>G	ENST00000248076.3	+	2	1347	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	339					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATCCCTTCATCTACTACTACG	0.657																																																	0													36	34	35					19																	17001291		2202	4299	6501	SO:0001583	missense	9002			AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1017C>G	19.37:g.17001291C>G	ENSP00000248076:p.Ile339Met		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.I339M	ENST00000248076.3	37	c.1017	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208791	0.39003	.	.	ENSG00000127533	ENST00000248076	T	0.57273	0.41	4.15	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.552447	0.16885	U	0.195548	T	0.62780	0.2456	M	0.74546	2.27	0.28671	N	0.905616	P	0.42518	0.782	P	0.51101	0.659	T	0.59172	-0.7504	10	0.44086	T	0.13	.	12.6698	0.56860	0.0:0.5188:0.4812:0.0	.	339	Q96RI0	PAR4_HUMAN	M	339	ENSP00000248076:I339M	ENSP00000248076:I339M	I	+	3	3	F2RL3	16862291	0.665000	0.27466	0.838000	0.33150	0.123000	0.20343	-0.160000	0.10041	0.167000	0.19631	0.491000	0.48974	ATC	F2RL3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.657	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1	C			17001291	1	no_errors	ENST00000248076	ensembl	human	known	70_37	missense	SNP	0.998	G	G	17001291	C	G	17001291	3	3	12	1	0	0	0	0	1	0	0	0	5358	903	32	1	1023	1	F2RL3	19	17001291	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	2138037	17001291	42127692	66	1426										
ZNF566	84924	genome.wustl.edu	37	chr19	36940268	36940268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tgagccactactaaaggcctTcccgcattctttgcattcat	6	13	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:36940268T>C	ENST00000434377.2	-	5	949	c.868A>G	c.(868-870)Aag>Gag	p.K290E	ZNF566_ENST00000493391.1_Missense_Mutation_p.K186E|ZNF566_ENST00000424129.2_Missense_Mutation_p.K290E|ZNF566_ENST00000454319.1_Missense_Mutation_p.K291E|ZNF566_ENST00000392170.2_Missense_Mutation_p.K291E	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CTAAAGGCCTTCCCGCATTCT	0.418																																																	0													93	93	93					19																	36940268		2203	4300	6503	SO:0001583	missense	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.868A>G	19.37:g.36940268T>C	ENSP00000415520:p.Lys290Glu		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K291E	ENST00000434377.2	37	c.871	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953276	0.73902	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	T	0.60945	0.2308	M	0.82923	2.615	0.32283	N	0.567373	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.72408	-0.4303	10	0.72032	D	0.01	.	12.1713	0.54160	0.0:0.0:0.0:1.0	.	291;290	B7ZL95;Q969W8	.;ZN566_HUMAN	E	291;290;291;290	ENSP00000394207:K291E;ENSP00000415520:K290E;ENSP00000376010:K291E;ENSP00000401259:K290E	ENSP00000376010:K291E	K	-	1	0	ZNF566	41632108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.886000	0.56190	1.775000	0.52247	0.454000	0.30748	AAG	ZNF566	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	T	NM_032838		36940268	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36940268	T	C	36940268	3	2	12	1	0	0	0	0	1	0	0	0	18027	1792	62	5	392	5	ZNF566	19	36940268	Missense_Mutation	SNP	T	TCGA-C5-A1BN-01B-11D-A14W-08	19938977	36940268	22188715	67	1427										
ZNF569	148266	genome.wustl.edu	37	chr19	37903935	37903935	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gcttttcccctgtatgacttCtcaaatgaagggtaagggat	10	8	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:37903935C>G	ENST00000316950.6	-	6	2182	c.1625G>C	c.(1624-1626)aGa>aCa	p.R542T	ZNF569_ENST00000392150.2_Missense_Mutation_p.R383T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R542T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGACTTCTCAAATGAAG	0.378																																																	0													98	96	97					19																	37903935		2203	4299	6502	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1625G>C	19.37:g.37903935C>G	ENSP00000325018:p.Arg542Thr		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R542T	ENST00000316950.6	37	c.1625	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764579	0.49574	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.25414	1.8;4.3	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41328	0.1154	L	0.53249	1.67	0.35508	D	0.800376	D;D	0.67145	0.996;0.996	D;D	0.64144	0.922;0.922	T	0.53222	-0.8469	9	0.72032	D	0.01	.	10.9189	0.47152	0.1881:0.8119:0.0:0.0	.	383;542	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	542;198;383	ENSP00000325018:R542T;ENSP00000375993:R383T	ENSP00000325018:R542T	R	-	2	0	ZNF569	42595775	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.748000	0.26305	2.261000	0.74972	0.655000	0.94253	AGA	ZNF569	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	C	NM_152484		37903935	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.997	G	G	37903935	C	G	37903935	3	3	12	1	0	0	0	0	1	0	0	0	18030	913	32	1	439	1	ZNF569	19	37903935	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	963667	37903935	21225048	68	1428										
RYR1	6261	genome.wustl.edu	37	chr19	38976785	38976785	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cagcacgctcgcgaccccgtCgggggctccgtggagttcca	14	16	0	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:38976785C>T	ENST00000359596.3	+	34	5490	c.5490C>T	c.(5488-5490)gtC>gtT	p.V1830V	RYR1_ENST00000360985.3_Silent_p.V1830V|RYR1_ENST00000355481.4_Silent_p.V1830V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1830	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCGACCCCGTCGGGGGCTCCG	0.662																																																	0													97	97	97					19																	38976785		2185	4256	6441	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5490C>T	19.37:g.38976785C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V1830	ENST00000359596.3	37	c.5490	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38976785	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.857	T	T	38976785	C	T	38976785	2	4	12	1	0	0	0	0	0	0	0	1	13798	871	31	1		1	RYR1	19	38976785	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	1072850	38976785	20152198	69	1429										
PAF1	55095	genome.wustl.edu	37	chr19	39877206	39877206	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gttttctagctgggccttccGtgcctcctggaagcagcaag	12	12	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:39877206G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.R357W|PAF1_ENST00000221266.7_Missense_Mutation_p.R334W|PAF1_ENST00000221265.3_Missense_Mutation_p.R367W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGGGCCTTCCGTGCCTCCTGG	0.567																																																	0													95	90	91					19																	39877206		2203	4300	6503	SO:0001628	intergenic_variant	54623				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39877206G>A			A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.R367W	ENST00000314471.6	37	c.1099	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	g	20.8	4.051192	0.75960	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.67	3.41	0.39046	.	0.061993	0.64402	D	0.000003	T	0.76863	0.4047	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79247	-0.1882	9	0.56958	D	0.05	-6.4623	12.9748	0.58532	0.0:0.0:0.7083:0.2917	.	334;367	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	W	367;334	.	ENSP00000221265:R367W	R	-	1	2	PAF1	44569046	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.414000	0.52693	1.367000	0.46095	0.552000	0.68991	CGG	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.567	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000464467.1	G	NM_018028		39877206	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39877206	G	A	39877206	1	1	12	0	1	0	0	0	0	0	0	0	11407	1144	40	2		2	PAF1	19	39877206	IGR	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	900421	39877206	19251777	70	1430										
CLEC11A	6320	genome.wustl.edu	37	chr19	51228632	51228632	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	agcccaacggtggcacgctcGagaactgcgtggcgcaggcc	15	14	0	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:51228632G>C	ENST00000250340.4	+	4	1077	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	CLEC11A_ENST00000599973.1_Missense_Mutation_p.R310P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	294	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCACGCTCGAGAACTGCGT	0.711																																																	0													17	16	16					19																	51228632		2189	4276	6465	SO:0001583	missense	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.880G>C	19.37:g.51228632G>C	ENSP00000250340:p.Glu294Gln		B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E294Q	ENST00000250340.4	37	c.880	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066857	0.76301	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.20200	2.09	4.59	4.59	0.56863	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000001	T	0.41305	0.1153	L	0.51422	1.61	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.20174	-1.0283	10	0.49607	T	0.09	-19.6883	16.5155	0.84299	0.0:0.0:1.0:0.0	.	294	Q9Y240	CLC11_HUMAN	Q	294;216	ENSP00000250340:E294Q	ENSP00000250340:E294Q	E	+	1	0	CLEC11A	55920444	1.000000	0.71417	0.983000	0.44433	0.131000	0.20780	8.156000	0.89645	2.259000	0.74868	0.455000	0.32223	GAG	CLEC11A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.711	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	G	NM_002975		51228632	1	no_errors	ENST00000250340	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51228632	G	C	51228632	3	2	12	1	0	0	0	0	1	0	0	0	3501	1059	37	1	894	1	CLEC11A	19	51228632	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	11351426	51228632	7900351	71	1431										
ZNF470	388566	genome.wustl.edu	37	chr19	57088530	57088530	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gcaaaatctcaacccttactCttcaccaaagaattcataca	2	13	4	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:57088530C>T	ENST00000330619.8	+	6	1419	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L245F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACCCTTACTCTTCACCAAAG	0.378																																																	0													55	59	58					19																	57088530		2200	4300	6500	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.733C>T	19.37:g.57088530C>T	ENSP00000333223:p.Leu245Phe		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L245F	ENST00000330619.8	37	c.733	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387608	0.25031	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.18016	2.24;2.24	4.01	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.05241	-1.0897	9	0.54805	T	0.06	.	7.0421	0.25025	0.2795:0.4284:0.2921:0.0	.	245	Q6ECI4	ZN470_HUMAN	F	245	ENSP00000375590:L245F;ENSP00000333223:L245F	ENSP00000333223:L245F	L	+	1	0	ZNF470	61780342	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-1.805000	0.01737	0.874000	0.35823	0.460000	0.39030	CTT	ZNF470	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	C	NM_001001668		57088530	1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.017	T	T	57088530	C	T	57088530	3	4	12	1	0	0	0	0	1	0	0	0	17959	913	32	1	747	1	ZNF470	19	57088530	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	5859898	57088530	2040453	72	1432										
ZSCAN18	65982	genome.wustl.edu	37	chr19	58596432	58596432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gctgtcgccggagctagagaCgccctcgaggctctgcccgt	14	15	1	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:58596432C>T	ENST00000240727.6	-	7	1552	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.V441I|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.V385I|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.V249I	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	385					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGCTAGAGACGCCCTCGAGG	0.726																																																	0													16	19	18					19																	58596432		2202	4296	6498	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1153G>A	19.37:g.58596432C>T	ENSP00000240727:p.Val385Ile		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V441I	ENST00000240727.6	37	c.1321	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626388	0.14257	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02369	4.58;4.32	3.09	-0.412	0.12367	.	3.226770	0.01261	N	0.009199	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.33494	0.291;0.056;0.414;0.291	B;B;B;B	0.17979	0.015;0.005;0.02;0.009	T	0.40346	-0.9568	10	0.22706	T	0.39	0.3632	0.505	0.00586	0.1943:0.347:0.2077:0.2511	.	441;249;384;385	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	I	441;385;249	ENSP00000240727:V385I;ENSP00000392653:V249I	ENSP00000240727:V385I	V	-	1	0	ZSCAN18	63288244	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.004000	0.13106	0.004000	0.14682	0.313000	0.20887	GTC	ZSCAN18	-	NULL		0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	C	NM_023926		58596432	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58596432	C	T	58596432	3	4	12	1	0	0	0	0	1	0	0	0	18260	536	19	2	383	2	ZSCAN18	19	58596432	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	1507902	58596432	532551	73	1433										
TH1L	51497	genome.wustl.edu	37	chr20	57564055	57564055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	gaagcccatccagactgtttGatgctgaacttcaccgttaa	8	11	1	3			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:57564055G>C	ENST00000344018.3	+	5	537	c.510G>C	c.(508-510)ttG>ttC	p.L170F	NELFCD_ENST00000602795.1_Missense_Mutation_p.L179F			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	170					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CAGACTGTTTGATGCTGAACT	0.443																																																	0													99	88	92					20																	57564055		2203	4300	6503	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.510G>C	20.37:g.57564055G>C	ENSP00000342300:p.Leu170Phe		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.L170F	ENST00000344018.3	37	c.510		20	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484400	0.63962	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.92	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.72350	0.3449	M	0.85859	2.78	0.51233	D	0.999914	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.91635	0.999;0.995;0.999	T	0.72104	-0.4391	9	0.62326	D	0.03	-24.0233	4.3837	0.11305	0.1912:0.0:0.526:0.2827	.	170;179;170	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	F	170	.	ENSP00000342300:L170F	L	+	3	2	TH1L	56997450	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.501000	0.35693	1.204000	0.43247	0.561000	0.74099	TTG	TH1L	-	pfam_TH1		0.443	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	TH1L	HGNC	protein_coding		G	NM_198976		57564055	1	no_errors	ENST00000344018	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57564055	G	C	57564055	3	2	12	1	0	0	0	0	1	0	0	0	15869	1281	45	1	528	1	TH1L	20	57564055	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		57564055	5461465	74	1434										
C20orf11	54994	genome.wustl.edu	37	chr20	61574475	61574475	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	attcaggaggccatcgccttGatcaacagcctccacccaga	8	15	2	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:61574475G>C	ENST00000266069.3	+	3	402	c.255G>C	c.(253-255)ttG>ttC	p.L85F		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	85	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cell junction (GO:0030054)|nucleus (GO:0005634)											CCATCGCCTTGATCAACAGCC	0.458																																																	0													121	106	111					20																	61574475		2203	4300	6503	SO:0001583	missense	54994			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"chromosome 20 open reading frame 11", "GID complex subunit 8 homolog (S. cerevisiae)"	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.255G>C	20.37:g.61574475G>C	ENSP00000266069:p.Leu85Phe		E1P5I3|Q8N5M5	Missense_Mutation	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.L85F	ENST00000266069.3	37	c.255	CCDS13510.1	20	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810858	0.50421	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.82	0.104	0.14531	CTLH, C-terminal LisH motif (2);	0.059511	0.64402	D	0.000010	T	0.76849	0.4045	M	0.87547	2.89	0.58432	D	0.999999	D	0.63046	0.992	D	0.71414	0.973	T	0.75309	-0.3363	9	0.62326	D	0.03	-16.2099	9.1531	0.36976	0.1634:0.3982:0.4385:0.0	.	85	Q9NWU2	CT011_HUMAN	F	85	.	ENSP00000266069:L85F	L	+	3	2	C20orf11	61044920	0.997000	0.39634	0.110000	0.21437	0.555000	0.35460	0.370000	0.20433	-0.162000	0.10964	-0.291000	0.09656	TTG	GID8	-	smart_CTLH_C,pfscan_CTLH_C		0.458	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	G	NM_017896		61574475	1	no_errors	ENST00000266069	ensembl	human	known	70_37	missense	SNP	0.974	C	C	61574475	G	C	61574475	3	2	12	1	0	0	0	0	1	0	0	0	2084	1281	45	1	261	1	C20orf11	20	61574475	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	4010420	61574475	1451045	75	1435										
GRIK1	2897	genome.wustl.edu	37	chr21	30953833	30953833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tctgagtcagggttgcatggGtgggggttataccactcgta	15	7	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr21:30953833G>T	ENST00000399907.1	-	13	2235	c.1824C>A	c.(1822-1824)caC>caA	p.H608Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.H608Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.H593Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.H593Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.H608Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.H610Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.H610Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.H608Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.H593Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	608					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGTTGCATGGGTGGGGGTTAT	0.443																																																	0													90	86	87					21																	30953833		2203	4299	6502	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1824C>A	21.37:g.30953833G>T	ENSP00000382791:p.His608Gln		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.H610Q	ENST00000399907.1	37	c.1830	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803471	0.90623	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.043430	0.85682	D	0.000000	D	0.98343	0.9450	M	0.78344	2.41	0.80722	D	1	D;D;P;D;P	0.56968	0.978;0.978;0.85;0.962;0.953	D;D;P;D;D	0.69142	0.962;0.962;0.869;0.94;0.937	D	0.98900	1.0776	10	0.72032	D	0.01	.	19.1941	0.93679	0.0:0.0:1.0:0.0	.	593;608;593;608;593	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	Q	608;593;608;593;610;469;608;608;593;610	ENSP00000327687:H608Q;ENSP00000373777:H593Q;ENSP00000382797:H608Q;ENSP00000382798:H593Q;ENSP00000446326:H610Q;ENSP00000373776:H608Q;ENSP00000382791:H608Q;ENSP00000382793:H593Q;ENSP00000311646:H610Q	ENSP00000311646:H610Q	H	-	3	2	GRIK1	29875704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.854000	0.98071	0.655000	0.94253	CAC	GRIK1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.443	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	G			30953833	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30953833	G	T	30953833	3	4	12	1	0	0	0	0	1	0	0	0	6793	1252	44	4	1112	4	GRIK1	21	30953833	Missense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		30953833	17176062	76	1436										
MOV10L1	54456	genome.wustl.edu	37	chr22	50582543	50582543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	aaggtacactttgccttgccGgacagtcggattttagtctg	11	9	1	0			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:50582543G>A	ENST00000262794.5	+	18	2459	c.2376G>A	c.(2374-2376)ccG>ccA	p.P792P	MOV10L1_ENST00000540615.1_Silent_p.P772P|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.P792P|MOV10L1_ENST00000395858.3_Silent_p.P792P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	792					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCCTTGCCGGACAGTCGGA	0.552																																																	0													277	231	246					22																	50582543		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2376G>A	22.37:g.50582543G>A			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.P792	ENST00000262794.5	37	c.2376	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.552	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50582543	1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	0.162	A	A	50582543	G	A	50582543	2	1	12	1	0	0	0	0	0	0	0	1	9742	1103	39	2		2	MOV10L1	22	50582543	Silent	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08		50582543	722023	77	1437										
CXorf23	256643	genome.wustl.edu	37	chrX	19947987	19947987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	cgtaaacgctgatacttagcCtgaatgtacaagctcttctg	8	10	2	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:19947987C>G	ENST00000379682.4	-	10	2055	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379687.3_Missense_Mutation_p.Q645H			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	674						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GATACTTAGCCTGAATGTACA	0.388																																																	0													156	151	152					X																	19947987		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.2022G>C	X.37:g.19947987C>G	ENSP00000369004:p.Gln674His		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.Q645H	ENST00000379682.4	37	c.1935		X	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236927	0.58886	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.64260	-0.09;0.4	5.32	3.28	0.37604	.	.	.	.	.	T	0.65417	0.2689	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61481	-0.7054	8	.	.	.	.	8.4817	0.33047	0.0:0.6813:0.0:0.3187	.	645;674	A2AJT9-2;A2AJT9	.;CX023_HUMAN	H	645;674	ENSP00000369009:Q645H;ENSP00000369004:Q674H	.	Q	-	3	2	CXorf23	19857908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.387000	0.20718	1.025000	0.39708	0.544000	0.68410	CAG	CXorf23	-	NULL		0.388	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	C	NM_198279		19947987	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19947987	C	G	19947987	3	3	12	1	0	0	0	0	1	0	0	0	4108	680	24	4	121	4	CXorf23	23	19947987	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08		19947987	135322573	78	1438										
MAGEE1	57692	genome.wustl.edu	37	chrX	75649151	75649151	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	acctccgtgctgcccgccgcCtctgacggacaaagcatctc	9	18	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:75649151C>A	ENST00000361470.2	+	1	1106	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	276	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGCCCGCCGCCTCTGACGGAC	0.701																																																	0													29	27	28					X																	75649151		2200	4298	6498	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.828C>A	X.37:g.75649151C>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.A276	ENST00000361470.2	37	c.828	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75649151	1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.003	A	A	75649151	C	A	75649151	2	1	12	1	0	0	0	0	0	0	0	1	9208	668	24	4		4	MAGEE1	23	75649151	Silent	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	55701164	75649151	79621409	79	1439										
ATRX	546	genome.wustl.edu	37	chrX	76938875	76938875	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ctgtccaagtccacatttctCtaacttggggttcagaccac	7	13	2	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:76938875C>G	ENST00000373344.5	-	9	2087	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E587Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	625					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCACATTTCTCTAACTTGGGG	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											178	198	191					X																	76938875		2203	4294	6497	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1873G>C	X.37:g.76938875C>G	ENSP00000362441:p.Glu625Gln		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E625Q	ENST00000373344.5	37	c.1873	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	4.063	0.009389	0.07912	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.18;-3.19	5.22	5.22	0.72569	.	0.208542	0.40469	N	0.001099	D	0.94483	0.8224	L	0.55481	1.735	0.27076	N	0.96321	D;D;D;D	0.89917	0.997;1.0;0.998;0.997	D;D;D;D	0.80764	0.986;0.988;0.994;0.986	D	0.88401	0.3015	10	0.32370	T	0.25	-7.0658	8.8716	0.35320	0.0:0.8294:0.0:0.1706	.	625;557;587;625	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	625;587;552	ENSP00000362441:E625Q;ENSP00000378967:E587Q	ENSP00000362441:E625Q	E	-	1	0	ATRX	76825531	1.000000	0.71417	0.981000	0.43875	0.364000	0.29643	4.097000	0.57741	2.177000	0.69029	0.509000	0.49947	GAG	ATRX	-	NULL		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76938875	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.305	G	G	76938875	C	G	76938875	3	3	12	1	0	0	0	0	1	0	0	0	1209	922	32	1	5713	1	ATRX	23	76938875	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	1289724	76938875	78331685	80	1440										
CYLC1	1538	genome.wustl.edu	37	chrX	83129330	83129330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tttaaaacatctacaaaaatCaaaggttcagatactgaatc	4	7	3	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:83129330C>G	ENST00000329312.4	+	4	1651	c.1614C>G	c.(1612-1614)atC>atG	p.I538M		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	538	8 X approximate tandem repeats.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTACAAAAATCAAAGGTTCAG	0.363																																																	0													59	52	54					X																	83129330		2200	4299	6499	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1614C>G	X.37:g.83129330C>G	ENSP00000331556:p.Ile538Met		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.I538M	ENST00000329312.4	37	c.1614	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	3.596	-0.082549	0.07141	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.49432	0.78	3.01	2.13	0.27403	.	.	.	.	.	T	0.46405	0.1391	L	0.44542	1.39	0.09310	N	1	P;D	0.54772	0.921;0.968	P;P	0.52386	0.609;0.697	T	0.23048	-1.0199	9	0.32370	T	0.25	29.8942	7.2818	0.26316	0.0:0.7315:0.2685:0.0	.	538;538	P35663;F5H4V5	CYLC1_HUMAN;.	M	538	ENSP00000331556:I538M	ENSP00000331556:I538M	I	+	3	3	CYLC1	83015986	0.000000	0.05858	0.008000	0.14137	0.022000	0.10575	-0.690000	0.05138	0.670000	0.31165	0.600000	0.82982	ATC	CYLC1	-	NULL		0.363	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	C	NM_021118		83129330	1	no_errors	ENST00000329312	ensembl	human	known	70_37	missense	SNP	0.005	G	G	83129330	C	G	83129330	3	3	12	1	0	0	0	0	1	0	0	0	4146	816	29	1	1628	1	CYLC1	23	83129330	Missense_Mutation	SNP	C	TCGA-C5-A1BN-01B-11D-A14W-08	6190455	83129330	72141230	81	1441										
MUM1L1	139221	genome.wustl.edu	37	chrX	105451166	105451166	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	taaatggcacaaaaggatccAgatggctgaaatcatttttg	9	6	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:105451166A>C	ENST00000357175.2	+	4	2390	c.1741A>C	c.(1741-1743)Aga>Cga	p.R581R	MUM1L1_ENST00000337685.2_Silent_p.R581R|MUM1L1_ENST00000372552.1_Silent_p.R581R	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	581						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAGGATCCAGATGGCTGAA	0.418																																																	0													48	42	44					X																	105451166		1868	4091	5959	SO:0001819	synonymous_variant	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1741A>C	X.37:g.105451166A>C			D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R581	ENST00000357175.2	37	c.1741	CCDS55469.1	X																																																																																			MUM1L1	-	NULL		0.418	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	A	NM_152423		105451166	1	no_errors	ENST00000337685	ensembl	human	known	70_37	silent	SNP	1.000	C	C	105451166	A	C	105451166	2	2	12	1	0	0	0	0	0	0	0	1	10009	180	7	5		5	MUM1L1	23	105451166	Silent	SNP	A	TCGA-C5-A1BN-01B-11D-A14W-08	22321836	105451166	49819394	82	1442										
USP26	83844	genome.wustl.edu	37	chrX	132161143	132161143	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	ggaatatctctgcagctgctGaaatggcctttttaagattc	9	8	1	2			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:132161143G>T	ENST00000511190.1	-	6	1575	c.1106C>A	c.(1105-1107)tCa>tAa	p.S369*	USP26_ENST00000406273.1_Nonsense_Mutation_p.S369*|USP26_ENST00000370832.1_Nonsense_Mutation_p.S369*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	369	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGCAGCTGCTGAAATGGCCTT	0.368																																					NSCLC(104;342 1621 36940 47097 52632)												0													74	72	72					X																	132161143		2203	4299	6502	SO:0001587	stop_gained	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1106C>A	X.37:g.132161143G>T	ENSP00000423390:p.Ser369*		B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S369*	ENST00000511190.1	37	c.1106	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	g	28.8	4.951905	0.92660	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	3.78	3.78	0.43462	.	0.335082	0.19288	N	0.117994	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5724	12.7116	0.57092	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000359869:S369X	S	-	2	0	USP26	131988809	1.000000	0.71417	0.007000	0.13788	0.006000	0.05464	7.088000	0.76901	2.155000	0.67459	0.519000	0.50382	TCA	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132161143	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	nonsense	SNP	0.047	T	T	132161143	G	T	132161143	4	4	12	1	0	0	0	0	0	1	0	0	17088	1294	45	3	1638	3	USP26	23	132161143	Nonsense_Mutation	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	26709977	132161143	23109417	83	1443										
MAGEC2	51438	genome.wustl.edu	37	chrX	141291726	141291726	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	24	5.70930978714132e-07	3.03401069518717	5.91	1.39058823529412	0.0168551064100065	0.0653978128708252	16	tctaactcaactgaggtcggGgagtcgttgtcaacgttgcg	13	9	3	1			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:141291726G>C	ENST00000247452.3	-	3	395	c.48C>G	c.(46-48)tcC>tcG	p.S16S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	16					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGTCGGGGAGTCGTTGT	0.517										HNSCC(46;0.14)																																							0													125	118	120					X																	141291726		2203	4300	6503	SO:0001819	synonymous_variant	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.48C>G	X.37:g.141291726G>C			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S16	ENST00000247452.3	37	c.48	CCDS14678.1	X																																																																																			MAGEC2	-	NULL		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	G	NM_016249		141291726	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	silent	SNP	0.000	C	C	141291726	G	C	141291726	2	2	12	1	0	0	0	0	0	0	0	1	9204	1219	43	4		4	MAGEC2	23	141291726	Silent	SNP	G	TCGA-C5-A1BN-01B-11D-A14W-08	9130583	141291726	13978834	84	1444										
H6PD	9563	genome.wustl.edu	37	chr1	9324432	9324432	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgagcgctgcgtcccactctCagacccggagtccaacttcc	9	18	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:9324432C>G	ENST00000377403.2	+	5	2182	c.1880C>G	c.(1879-1881)tCa>tGa	p.S627*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.S638*	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	627	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCCACTCTCAGACCCGGAG	0.667																																																	0													23	25	24					1																	9324432		2200	4294	6494	SO:0001587	stop_gained	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1880C>G	1.37:g.9324432C>G	ENSP00000366620:p.Ser627*		Q4TT33|Q66I35|Q68DT3	Nonsense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.S627*	ENST00000377403.2	37	c.1880	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.885355	0.97068	.	.	ENSG00000049239	ENST00000377403	.	.	.	5.16	4.25	0.50352	.	0.348037	0.31697	N	0.007218	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-5.6549	13.6737	0.62440	0.0:0.8078:0.1922:0.0	.	.	.	.	X	627	.	ENSP00000366620:S627X	S	+	2	0	H6PD	9247019	0.001000	0.12720	0.072000	0.20136	0.248000	0.25809	0.852000	0.27764	1.194000	0.43101	0.561000	0.74099	TCA	H6PD	-	tigrfam_6-phosphogluconolactonase_DevB		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	C	NM_004285		9324432	1	no_errors	ENST00000377403	ensembl	human	known	70_37	nonsense	SNP	0.114	G	G	9324432	C	G	9324432	4	3	13	1	0	0	0	0	0	1	0	0	6956	838	29	1	1894	1	H6PD	1	9324432	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		9324432	239926189	1	1445										
MASP2	10747	genome.wustl.edu	37	chr1	11103437	11103437	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagggtttcagggtgtgtctCcacatcgaaggactccacaa	11	11	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:11103437C>G	ENST00000400897.3	-	5	715	c.700G>C	c.(700-702)Gag>Cag	p.E234Q		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	234	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGGTGTGTCTCCACATCGAAG	0.572																																					GBM(35;611 746 20780 22741 36496)												0													73	56	62					1																	11103437		2200	4297	6497	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.700G>C	1.37:g.11103437C>G	ENSP00000383690:p.Glu234Gln		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E234Q	ENST00000400897.3	37	c.700	CCDS123.1	1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.249035	0.59103	.	.	ENSG00000009724	ENST00000400897	T	0.27104	1.69	4.39	4.39	0.52855	CUB (5);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69529	-0.5121	10	0.66056	D	0.02	.	16.1639	0.81739	0.0:1.0:0.0:0.0	.	234	O00187	MASP2_HUMAN	Q	234	ENSP00000383690:E234Q	ENSP00000383690:E234Q	E	-	1	0	MASP2	11026024	1.000000	0.71417	0.984000	0.44739	0.127000	0.20565	7.640000	0.83355	2.166000	0.68216	0.299000	0.19835	GAG	MASP2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.572	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	C	NM_006610		11103437	-1	no_errors	ENST00000400897	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11103437	C	G	11103437	3	3	13	1	0	0	0	0	1	0	0	0	9346	864	30	1	1388	1	MASP2	1	11103437	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1779005	11103437	238147184	2	1446										
VPS13D	55187	genome.wustl.edu	37	chr1	12408985	12408985	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcattgtgaggaacagacttGagacaccaatggaactaaga	10	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12408985G>C	ENST00000358136.3	+	45	9305	c.9175G>C	c.(9175-9177)Gag>Cag	p.E3059Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3034Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.E3059K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACAGACTTGAGACACCAAT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											121	110	114					1																	12408985		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9175G>C	1.37:g.12408985G>C	ENSP00000350854:p.Glu3059Gln			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E3059Q	ENST00000358136.3	37	c.9175	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.187087|5.187087	0.94923|0.94923	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|T	0.51071|0.47528	0.73;0.72|0.84	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.048878|.	0.85682|.	D|.	0.000000|.	T|T	0.53094|0.53094	0.1775|0.1775	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;P|.	0.49862|.	0.929;0.883|.	P;P|.	0.48598|.	0.583;0.563|.	T|T	0.39583|0.39583	-0.9607|-0.9607	10|7	0.22706|0.35671	T|T	0.39|0.21	.|.	19.8836|19.8836	0.96906|0.96906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3034;3058|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	Q|F	3034;3059|1880	ENSP00000348666:E3034Q;ENSP00000350854:E3059Q|ENSP00000011700:L1880F	ENSP00000348666:E3034Q|ENSP00000011700:L1880F	E|L	+|+	1|3	0|2	VPS13D|VPS13D	12331572|12331572	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	GAG|TTG	VPS13D	-	NULL		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12408985	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12408985	G	C	12408985	3	2	13	1	0	0	0	0	1	0	0	0	17223	1291	45	1	9349	1	VPS13D	1	12408985	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1305548	12408985	236841636	3	1447										
AADACL4	343066	genome.wustl.edu	37	chr1	12726089	12726089	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacccctccagggttgtggtCtgtggagaaagcgtcggagg	17	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12726089C>T	ENST00000376221.1	+	4	567	c.567C>T	c.(565-567)gtC>gtT	p.V189V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	189						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGTTGTGGTCTGTGGAGAAA	0.587																																																	0													66	69	68					1																	12726089		2203	4300	6503	SO:0001819	synonymous_variant	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.567C>T	1.37:g.12726089C>T				Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.V189	ENST00000376221.1	37	c.567	CCDS30590.1	1																																																																																			AADACL4	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase		0.587	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1	C	NM_001013630		12726089	1	no_errors	ENST00000376221	ensembl	human	known	70_37	silent	SNP	0.037	T	T	12726089	C	T	12726089	2	4	13	1	0	0	0	0	0	0	0	1	13	900	32	1		1	AADACL4	1	12726089	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	317104	12726089	236524532	4	1448										
PRAMEF1	65121	genome.wustl.edu	37	chr1	12855773	12855773	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagaaaattgctgcctctctCaaaaccctcatcttggaggg	9	11	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12855773C>G	ENST00000332296.7	+	4	1156	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	PRAMEF1_ENST00000400814.3_Silent_p.L106L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCTCTCAAAACCCTCA	0.552																																																	0													195	194	194					1																	12855773		2203	4300	6503	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1053C>G	1.37:g.12855773C>G			Q9UQP2	Silent	SNP	NULL	p.L351	ENST00000332296.7	37	c.1053	CCDS148.1	1																																																																																			PRAMEF1	-	NULL		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	C	NM_023013		12855773	1	no_errors	ENST00000332296	ensembl	human	known	70_37	silent	SNP	0.000	G	G	12855773	C	G	12855773	2	3	13	1	0	0	0	0	0	0	0	1	12452	813	29	1		1	PRAMEF1	1	12855773	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	129684	12855773	236394848	5	1449										
PRAMEF7	441871	genome.wustl.edu	37	chr1	12979845	12979845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cacaggtctgctggagcaagTtgtggccaccctgcagaccc	12	14	1	1	rs1890765	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12979845T>C	ENST00000361079.2	+	4	1120	c.1037T>C	c.(1036-1038)gTt>gCt	p.V346A	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	346					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCAAGTTGTGGCCACC	0.602																																																	0								T	ALA/VAL	379,4021		0,379,1821	52	48	49		1037	-0.9	0	1	dbSNP_134	49	1970,6602		26,1918,2342	no	missense	PRAMEF7	NM_001012277.1	64	26,2297,4163	CC,CT,TT		22.9818,8.6136,18.1082	benign	346/475	12979845	2349,10623	2200	4286	6486	SO:0001583	missense	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1037T>C	1.37:g.12979845T>C	ENSP00000354371:p.Val346Ala		B9EIP0	Missense_Mutation	SNP	NULL	p.V346A	ENST00000361079.2	37	c.1037	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	2.115	-0.402770	0.04865	0.086136	0.229818	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.14893	2.47;2.47	1.68	-0.877	0.10621	.	0.876931	0.09824	N	0.751126	T	0.00012	0.0000	L	0.42008	1.315	0.09310	N	1	B	0.20261	0.043	B	0.21360	0.034	T	0.41645	-0.9497	10	0.44086	T	0.13	.	5.3826	0.16199	0.0:0.3266:0.0:0.6734	.	346	Q5VXH5	PRAM7_HUMAN	A	346	ENSP00000354371:V346A;ENSP00000328915:V346A	ENSP00000328915:V346A	V	+	2	0	PRAMEF7	12902432	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.068000	0.14531	-0.242000	0.09667	-0.850000	0.03035	GTT	PRAMEF7	-	NULL		0.602	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		T	NM_001012277		12979845	1	no_errors	ENST00000330881	ensembl	human	known	70_37	missense	SNP	0.001	C	C	12979845	T	C	12979845	3	2	13	1	0	0	0	0	1	0	0	0	12466	1725	60	5	1047	5	PRAMEF7	1	12979845	Missense_Mutation	SNP	T	TCGA-C5-A1BQ-01C-11D-A20U-09	124072	12979845	236270776	6	1450										
PRDM2	7799	genome.wustl.edu	37	chr1	14107618	14107618	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaattagagaatgaaggtCtgaaacccagggaagagccc	13	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:14107618C>G	ENST00000235372.7	+	8	4184	c.3328C>G	c.(3328-3330)Ctg>Gtg	p.L1110V	PRDM2_ENST00000343137.4_Missense_Mutation_p.L909V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1110V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L909V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATGAAGGTCTGAAACCCAG	0.438																																																	0													86	90	88					1																	14107618		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3328C>G	1.37:g.14107618C>G	ENSP00000235372:p.Leu1110Val		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.L1110V	ENST00000235372.7	37	c.3328	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.769044	0.00645	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.81;4.68;4.7;4.7	5.97	4.05	0.47172	.	1.049580	0.07387	N	0.888423	T	0.01061	0.0035	N	0.02802	-0.49	0.09310	N	1	P;B;B	0.34699	0.464;0.001;0.001	B;B;B	0.26770	0.073;0.001;0.003	T	0.51903	-0.8646	10	0.24483	T	0.36	.	9.9181	0.41448	0.2817:0.5824:0.136:0.0	.	968;1110;1110	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	V	1110;1110;1110;909;909	ENSP00000235372:L1110V;ENSP00000312352:L1110V;ENSP00000411103:L909V;ENSP00000341621:L909V	ENSP00000235372:L1110V	L	+	1	2	PRDM2	13980205	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	0.487000	0.22356	0.814000	0.34374	0.655000	0.94253	CTG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.438	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14107618	1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	0.002	G	G	14107618	C	G	14107618	3	3	13	1	0	0	0	0	1	0	0	0	12485	912	32	1	3354	1	PRDM2	1	14107618	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1127773	14107618	235143003	7	1451										
PADI3	51702	genome.wustl.edu	37	chr1	17596733	17596733	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccctccccttccaggtcctGaggatgtgtgtgaggcctat	11	13	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:17596733G>A	ENST00000375460.3	+	7	698	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	220					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCAGGTCCTGAGGATGTGTG	0.587																																																	0													171	156	161					1																	17596733		2203	4300	6503	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.658G>A	1.37:g.17596733G>A	ENSP00000364609:p.Glu220Lys		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E220K	ENST00000375460.3	37	c.658	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.330992	0.01298	.	.	ENSG00000142619	ENST00000375460	T	0.16597	2.33	5.69	1.51	0.23008	Protein-arginine deiminase (PAD), central domain (2);	0.585375	0.18547	N	0.138021	T	0.08223	0.0205	L	0.28274	0.84	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41305	-0.9516	10	0.02654	T	1	-21.4029	6.2043	0.20593	0.1601:0.2896:0.5503:0.0	.	220	Q9ULW8	PADI3_HUMAN	K	220	ENSP00000364609:E220K	ENSP00000364609:E220K	E	+	1	0	PADI3	17469320	0.438000	0.25602	0.599000	0.28851	0.194000	0.23727	0.587000	0.23909	0.342000	0.23796	0.591000	0.81541	GAG	PADI3	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.587	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	G			17596733	1	no_errors	ENST00000375460	ensembl	human	known	70_37	missense	SNP	0.068	A	A	17596733	G	A	17596733	3	1	13	1	0	0	0	0	1	0	0	0	11403	1291	45	1	684	1	PADI3	1	17596733	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3489115	17596733	231653888	8	1452										
HTR6	3362	genome.wustl.edu	37	chr1	19992919	19992919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggccgtgcaggtggcctccCtcaccaccggcatggccagt	13	16	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:19992919C>T	ENST00000289753.1	+	1	1140	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	225					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GGTGGCCTCCCTCACCACCGG	0.667																																					Esophageal Squamous(168;1879 2619 6848 21062)												0													20	21	21					1																	19992919		2202	4298	6500	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.673C>T	1.37:g.19992919C>T	ENSP00000289753:p.Leu225Phe		Q13640|Q5TGZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.L225F	ENST00000289753.1	37	c.673	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643996	0.47258	.	.	ENSG00000158748	ENST00000289753	T	0.72725	-0.68	4.07	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.242590	0.35677	N	0.003058	T	0.66458	0.2791	M	0.75777	2.31	0.27400	N	0.954876	B	0.27316	0.175	B	0.29524	0.103	T	0.58538	-0.7619	9	.	.	.	.	7.4257	0.27098	0.0:0.7953:0.0:0.2047	.	225	P50406	5HT6R_HUMAN	F	225	ENSP00000289753:L225F	.	L	+	1	0	HTR6	19865506	0.984000	0.35163	1.000000	0.80357	0.919000	0.55068	3.027000	0.49697	0.853000	0.35312	0.491000	0.48974	CTC	HTR6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt		0.667	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	HGNC	protein_coding	OTTHUMT00000007704.1	C	NM_000871		19992919	1	no_errors	ENST00000289753	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19992919	C	T	19992919	3	4	13	1	0	0	0	0	1	0	0	0	7471	681	24	4	675	4	HTR6	1	19992919	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2396186	19992919	229257702	9	1453										
EIF4G3	8672	genome.wustl.edu	37	chr1	21175937	21175937	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attaatgtgtagaaattcatCaatgatagatttcgacttcc	6	6	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:21175937C>A	ENST00000264211.8	-	23	3885	c.3691G>T	c.(3691-3693)Gat>Tat	p.D1231Y	EIF4G3_ENST00000400422.1_Missense_Mutation_p.D1231Y|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D721Y|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D835Y|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D951Y|EIF4G3_ENST00000602326.1_Missense_Mutation_p.D1237Y|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D1237Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1231	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGAAATTCATCAATGATAGAT	0.353																																																	0													80	75	77					1																	21175937		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3691G>T	1.37:g.21175937C>A	ENSP00000264211:p.Asp1231Tyr		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.D1237Y	ENST00000264211.8	37	c.3709	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870825	0.91587	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.87	5.87	0.94306	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.097054	0.64402	D	0.000002	T	0.55689	0.1936	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.979;0.982;0.993;0.992	T	0.53479	-0.8433	10	0.72032	D	0.01	-16.5295	20.206	0.98277	0.0:1.0:0.0:0.0	.	1426;951;835;1237;1231	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	Y	1231;1427;1231;951;721;1237;835	ENSP00000264211:D1231Y;ENSP00000383274:D1231Y;ENSP00000364071:D951Y;ENSP00000442010:D721Y;ENSP00000364073:D1237Y;ENSP00000444693:D835Y	ENSP00000264211:D1231Y	D	-	1	0	EIF4G3	21048524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.208000	0.77907	2.785000	0.95823	0.655000	0.94253	GAT	EIF4G3	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.353	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760		21175937	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21175937	C	A	21175937	3	1	13	1	0	0	0	0	1	0	0	0	5050	826	29	3	1102	3	EIF4G3	1	21175937	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1183018	21175937	228074684	10	1454										
CDC42	998	genome.wustl.edu	37	chr1	22413001	22413001	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtatttctagtctgtttttCagtggtctctccatcttcat	6	9	6	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:22413001C>T	ENST00000344548.3	+	5	499	c.248C>T	c.(247-249)tCa>tTa	p.S83L	CDC42_ENST00000400259.1_Missense_Mutation_p.S83L|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.S125L|CDC42_ENST00000315554.8_Missense_Mutation_p.S83L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	83					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GTCTGTTTTTCAGTGGTCTCT	0.373																																																	0													88	90	89					1																	22413001		2203	4300	6503	SO:0001583	missense	998			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.248C>T	1.37:g.22413001C>T	ENSP00000341072:p.Ser83Leu		P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S125L	ENST00000344548.3	37	c.374	CCDS221.1	1	.	.	.	.	.	.	.	.	.	.	c	33	5.278801	0.95489	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	H	0.99978	5.175	0.80722	D	1	D;P;D;D;D	0.69078	0.997;0.584;0.997;0.997;0.982	D;B;D;D;P	0.75020	0.985;0.364;0.985;0.985;0.867	D	0.96337	0.9248	10	0.87932	D	0	.	18.1071	0.89524	0.0:1.0:0.0:0.0	.	125;128;125;83;83	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	L	83;83;83;125;83	ENSP00000383118:S83L;ENSP00000341072:S83L;ENSP00000314458:S83L;ENSP00000398592:S125L;ENSP00000398327:S83L	ENSP00000314458:S83L	S	+	2	0	CDC42	22285588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.677000	0.91161	0.650000	0.86243	TCA	CDC42	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom		0.373	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC42	HGNC	protein_coding	OTTHUMT00000007787.1	C	NM_001791		22413001	1	no_errors	ENST00000421089	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22413001	C	T	22413001	3	4	13	1	0	0	0	0	1	0	0	0	3076	838	29	1	258	1	CDC42	1	22413001	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1237064	22413001	226837620	11	1455										
MYOM3	127294	genome.wustl.edu	37	chr1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttcccggggtccgaagggcGagggcacccggaccatgtag	17	12	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:24419481G>A	ENST00000374434.3	-	10	1208	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	MYOM3_ENST00000330966.7_Missense_Mutation_p.S350L|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.S349L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAAGGGCGAGGGCACCCG	0.642																																																	0													30	35	33					1																	24419481		1986	4138	6124	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1046C>T	1.37:g.24419481G>A	ENSP00000363557:p.Ser349Leu		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S350L	ENST00000374434.3	37	c.1049	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276578	0.40294	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.43688	0.94;0.94;0.94	5.36	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.242278	0.42053	D	0.000766	T	0.53158	0.1779	M	0.66939	2.045	0.09310	N	1	D;P;D	0.69078	0.995;0.879;0.997	P;B;P	0.58454	0.73;0.358;0.839	T	0.44772	-0.9306	10	0.66056	D	0.02	.	8.741	0.34558	0.1776:0.0:0.8224:0.0	.	6;349;349	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	L	349;350;349	ENSP00000363557:S349L;ENSP00000332670:S350L;ENSP00000328415:S349L	ENSP00000328415:S349L	S	-	2	0	MYOM3	24292068	0.895000	0.30542	0.020000	0.16555	0.014000	0.08584	3.886000	0.56190	1.271000	0.44313	0.650000	0.86243	TCG	MYOM3	-	pfam_Ig_I-set,smart_Ig_sub		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	G	NM_152372		24419481	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	missense	SNP	0.084	A	A	24419481	G	A	24419481	3	1	13	1	0	0	0	0	1	0	0	0	10116	1059	37	1	3379	1	MYOM3	1	24419481	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2006480	24419481	224831140	12	1456										
MAN1C1	57134	genome.wustl.edu	37	chr1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaacgagggccgatgagagtCaggagccccagagccaagtg	16	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637																																																	0													16	12	14					1																	25944781		1843	3823	5666	SO:0001587	stop_gained	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.493C>T	1.37:g.25944781C>T	ENSP00000363452:p.Gln165*		A6NNE2|B2RNP2|Q9Y545	Nonsense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q165*	ENST00000374332.4	37	c.493	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.537383	0.96460	.	.	ENSG00000117643	ENST00000374332	.	.	.	4.67	-9.33	0.00639	.	2.652800	0.01007	N	0.003765	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	3.4789	0.07595	0.1568:0.412:0.3136:0.1176	.	.	.	.	X	165	.	ENSP00000363452:Q165X	Q	+	1	0	MAN1C1	25817368	0.011000	0.17503	0.002000	0.10522	0.429000	0.31625	-0.297000	0.08276	-1.376000	0.02126	-0.867000	0.03001	CAG	MAN1C1	-	superfamily_Glyco_hydro_47		0.637	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	C	NM_020379		25944781	1	no_errors	ENST00000374332	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	25944781	C	T	25944781	4	4	13	1	0	0	0	0	0	1	0	0	9236	827	29	1	495	1	MAN1C1	1	25944781	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1525300	25944781	223305840	13	1457										
PIGV	55650	genome.wustl.edu	37	chr1	27117354	27117354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaggtgctgaggtttgcagtCagctgccgtatcctgactct	13	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27117354C>T	ENST00000374145.1	+	2	730	c.48C>T	c.(46-48)gtC>gtT	p.V16V	PIGV_ENST00000449950.2_5'UTR|PIGV_ENST00000078527.4_Silent_p.V16V	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	16					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGTTTGCAGTCAGCTGCCGTA	0.547																																																	0													150	110	124					1																	27117354		2203	4300	6503	SO:0001819	synonymous_variant	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	26031	protein-coding gene	gene with protein product	"GPI mannosyltransferase 2", "dol-P-Man dependent GPI mannosyltransferase"	610274	"phosphatidylinositol glycan, class V"			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.48C>T	1.37:g.27117354C>T			D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	pfam_GPI_Mannosyltransferase_2-like	p.V16	ENST00000374145.1	37	c.48	CCDS287.1	1																																																																																			PIGV	-	pfam_GPI_Mannosyltransferase_2-like		0.547	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGV	HGNC	protein_coding	OTTHUMT00000011441.1	C	NM_017837		27117354	1	no_errors	ENST00000078527	ensembl	human	known	70_37	silent	SNP	0.129	T	T	27117354	C	T	27117354	2	4	13	1	0	0	0	0	0	0	0	1	11925	813	29	1		1	PIGV	1	27117354	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1172573	27117354	222133267	14	1458										
SFN	2810	genome.wustl.edu	37	chr1	27189709	27189709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtgtccccagagccatggaGagagccagtctgatccagaa	12	11	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27189709G>A	ENST00000339276.4	+	1	77	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCCATGGAGAGAGCCAGTC	0.627																																																	0													49	55	53					1																	27189709		2203	4300	6503	SO:0001819	synonymous_variant	2810			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.6G>A	1.37:g.27189709G>A			B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E2	ENST00000339276.4	37	c.6	CCDS288.1	1																																																																																			SFN	-	superfamily_14-3-3_domain,pirsf_14-3-3		0.627	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFN	HGNC	protein_coding	OTTHUMT00000011709.1	G	NM_006142		27189709	1	no_errors	ENST00000339276	ensembl	human	known	70_37	silent	SNP	0.984	A	A	27189709	G	A	27189709	2	1	13	1	0	0	0	0	0	0	0	1	14189	933	33	1		1	SFN	1	27189709	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	72355	27189709	222060912	15	1459										
GPATCH3	63906	genome.wustl.edu	37	chr1	27223845	27223845	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccccacttcttcctcaggctCtccacaggggctggctggta	10	16	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27223845C>G	ENST00000361720.5	-	2	846	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	275	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCAGGCTCTCCACAGGGG	0.537																																																	0													180	179	179					1																	27223845		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.823G>C	1.37:g.27223845C>G	ENSP00000354645:p.Glu275Gln		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E275Q	ENST00000361720.5	37	c.823	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841022	0.16891	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.48522	0.81	4.65	1.57	0.23409	.	0.878054	0.09995	N	0.729153	T	0.31482	0.0798	L	0.35723	1.085	0.09310	N	1	B	0.24132	0.098	B	0.17433	0.018	T	0.20974	-1.0259	10	0.23302	T	0.38	-1.3208	3.7889	0.08712	0.3393:0.4771:0.0:0.1836	.	275	Q96I76	GPTC3_HUMAN	Q	275;257;86	ENSP00000354645:E275Q	ENSP00000354645:E275Q	E	-	1	0	GPATCH3	27096432	0.425000	0.25498	0.003000	0.11579	0.007000	0.05969	2.330000	0.43885	0.556000	0.29098	-0.181000	0.13052	GAG	GPATCH3	-	NULL		0.537	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27223845	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	0.100	G	G	27223845	C	G	27223845	3	3	13	1	0	0	0	0	1	0	0	0	6611	922	32	1	778	1	GPATCH3	1	27223845	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	34136	27223845	222026776	16	1460										
FAM46B	115572	genome.wustl.edu	37	chr1	27332978	27332978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgtacaggctttcgcctgtGaccgttgggtggaaggcctc	14	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27332978G>A	ENST00000289166.5	-	2	900	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	245										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TTTCGCCTGTGACCGTTGGGT	0.612																																																	0													55	59	57					1																	27332978		2203	4300	6503	SO:0001819	synonymous_variant	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.735C>T	1.37:g.27332978G>A				Silent	SNP	pfam_DUF1693	p.V245	ENST00000289166.5	37	c.735	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693		0.612	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	G	NM_052943		27332978	-1	no_errors	ENST00000289166	ensembl	human	known	70_37	silent	SNP	0.221	A	A	27332978	G	A	27332978	2	1	13	1	0	0	0	0	0	0	0	1	5584	1277	45	1		1	FAM46B	1	27332978	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	109133	27332978	221917643	17	1461										
PTAFR	5724	genome.wustl.edu	37	chr1	28476822	28476822	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagatgatgaacaccgccaaGaccgtgcacaccatccacag	8	15	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:28476822G>A	ENST00000373857.3	-	2	1345	c.711C>T	c.(709-711)gtC>gtT	p.V237V	PTAFR_ENST00000539896.1_Silent_p.V237V|PTAFR_ENST00000305392.3_Silent_p.V237V	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	237					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCGCCAAGACCGTGCACA	0.617																																																	0													70	65	67					1																	28476822		2203	4300	6503	SO:0001819	synonymous_variant	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.711C>T	1.37:g.28476822G>A			A3KMC8|A8K2H5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.V237	ENST00000373857.3	37	c.711	CCDS318.1	1																																																																																			PTAFR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTAFR	HGNC	protein_coding	OTTHUMT00000011258.1	G	NM_000952		28476822	-1	no_errors	ENST00000305392	ensembl	human	known	70_37	silent	SNP	0.439	A	A	28476822	G	A	28476822	2	1	13	1	0	0	0	0	0	0	0	1	12750	929	33	1		1	PTAFR	1	28476822	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1143844	28476822	220773799	18	1462										
DNAJC8	22826	genome.wustl.edu	37	chr1	28530314	28530314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttttcttgagcttcaatctCttcttccctttgtcgtttcc	4	12	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:28530314C>T	ENST00000263697.4	-	8	609	c.583G>A	c.(583-585)Gag>Aag	p.E195K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	195					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCAATCTCTTCTTCCCTT	0.408																																																	0													138	120	126					1																	28530314		1848	4087	5935	SO:0001583	missense	22826			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"Heat shock proteins / DNAJ (HSP40)"	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.583G>A	1.37:g.28530314C>T	ENSP00000263697:p.Glu195Lys		B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E195K	ENST00000263697.4	37	c.583	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206014	0.79127	.	.	ENSG00000126698	ENST00000263697	T	0.69306	-0.39	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.66939	2.045	0.80722	D	1	P	0.52316	0.952	P	0.49528	0.614	T	0.74420	-0.3671	10	0.40728	T	0.16	-11.0563	18.2919	0.90133	0.0:1.0:0.0:0.0	.	195	O75937	DNJC8_HUMAN	K	195	ENSP00000263697:E195K	ENSP00000263697:E195K	E	-	1	0	DNAJC8	28402901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.944000	0.75940	2.388000	0.81334	0.650000	0.86243	GAG	DNAJC8	-	NULL		0.408	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1	C	NM_014280		28530314	-1	no_errors	ENST00000263697	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28530314	C	T	28530314	3	4	13	1	0	0	0	0	1	0	0	0	4665	922	32	1	186	1	DNAJC8	1	28530314	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	53492	28530314	220720307	19	1463										
CCDC28B	79140	genome.wustl.edu	37	chr1	32667643	32667643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcctaccagccacagcggctCcttggccctaggacttcctc	9	18	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:32667643C>T	ENST00000373602.5	+	2	454	c.107C>T	c.(106-108)tCc>tTc	p.S36F	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Missense_Mutation_p.S36F|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	36					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACAGCGGCTCCTTGGCCCTA	0.622																																																	0													37	43	41					1																	32667643		2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.107C>T	1.37:g.32667643C>T	ENSP00000362704:p.Ser36Phe		A8K789|Q8TBV8	Missense_Mutation	SNP	NULL	p.S36F	ENST00000373602.5	37	c.107	CCDS354.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.274307	0.95459	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.50548	0.8;0.74	5.39	5.39	0.77823	.	0.170397	0.50627	D	0.000109	T	0.55657	0.1934	L	0.50333	1.59	0.51482	D	0.99992	D;D	0.61080	0.978;0.989	P;P	0.52267	0.694;0.642	T	0.54516	-0.8282	10	0.46703	T	0.11	-1.3595	18.2843	0.90108	0.0:1.0:0.0:0.0	.	36;36	Q9BUN5;E9PM81	CC28B_HUMAN;.	F	36	ENSP00000362704:S36F;ENSP00000413017:S36F	ENSP00000362704:S36F	S	+	2	0	CCDC28B	32440230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.782000	0.75073	2.704000	0.92352	0.655000	0.94253	TCC	CCDC28B	-	NULL		0.622	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	C	NM_024296		32667643	1	no_errors	ENST00000373602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32667643	C	T	32667643	3	4	13	1	0	0	0	0	1	0	0	0	2808	855	30	1	109	1	CCDC28B	1	32667643	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4137329	32667643	216582978	20	1464										
CCDC28B	79140	genome.wustl.edu	37	chr1	32667666	32667666	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggccctaggacttcctcatCtgccatcccccaagcagcgg	9	17	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:32667666C>T	ENST00000373602.5	+	2	477	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Silent_p.L44L|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	44					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACTTCCTCATCTGCCATCCCC	0.637																																																	0													37	40	39					1																	32667666		2203	4300	6503	SO:0001819	synonymous_variant	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.130C>T	1.37:g.32667666C>T			A8K789|Q8TBV8	Silent	SNP	NULL	p.L44	ENST00000373602.5	37	c.130	CCDS354.2	1																																																																																			CCDC28B	-	NULL		0.637	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	C	NM_024296		32667666	1	no_errors	ENST00000373602	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32667666	C	T	32667666	2	4	13	1	0	0	0	0	0	0	0	1	2808	912	32	1		1	CCDC28B	1	32667666	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	23	32667666	216582955	21	1465										
YARS	8565	genome.wustl.edu	37	chr1	33245725	33245725	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgccttgggactcgactcctCtcatcttctggggtttcagg	11	12	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:33245725C>G	ENST00000373477.4	-	11	2203	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	432	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTCGACTCCTCTCATCTTCTG	0.582																																																	0													223	173	190					1																	33245725		2203	4300	6503	SO:0001583	missense	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1295G>C	1.37:g.33245725C>G	ENSP00000362576:p.Arg432Thr		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.R432T	ENST00000373477.4	37	c.1295	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971679	0.92919	.	.	ENSG00000134684	ENST00000373477	T	0.79141	-1.24	5.09	5.09	0.68999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	H	0.99074	4.42	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.96161	0.9115	10	0.87932	D	0	-14.4729	18.9199	0.92520	0.0:1.0:0.0:0.0	.	432	P54577	SYYC_HUMAN	T	432	ENSP00000362576:R432T	ENSP00000362576:R432T	R	-	2	0	YARS	33018312	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.506000	0.81665	2.542000	0.85734	0.655000	0.94253	AGA	YARS	-	pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom		0.582	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	C	NM_003680		33245725	-1	no_errors	ENST00000373477	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33245725	C	G	33245725	3	3	13	1	0	0	0	0	1	0	0	0	17498	913	32	1	303	1	YARS	1	33245725	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	578059	33245725	216004896	22	1466										
PHC2	1912	genome.wustl.edu	37	chr1	33833011	33833011	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgctggtgtctgctgtgttcGgagggtcaagttctgtacct	14	9	3	0	rs543761364		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:33833011G>A	ENST00000257118.5	-	6	735	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PHC2_ENST00000419414.2_Nonsense_Mutation_p.R228*|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Nonsense_Mutation_p.R199*	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	228					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCTGTGTTCGGAGGGTCAAG	0.617											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	8e-04	0	5008	,	,		17222	0		0	False		,,,				2504	0																0													82	102	95					1																	33833011		2175	4270	6445	SO:0001587	stop_gained	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.682C>T	1.37:g.33833011G>A	ENSP00000257118:p.Arg228*	843	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R228*	ENST00000257118.5	37	c.682	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.540961	0.97650	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4886	15.4198	0.75003	0.0:0.0:1.0:0.0	.	.	.	.	X	199;228;228	.	ENSP00000257118:R228X	R	-	1	2	PHC2	33605598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.814000	0.55643	2.702000	0.92279	0.655000	0.94253	CGA	PHC2	-	NULL		0.617	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33833011	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	33833011	G	A	33833011	4	1	13	1	0	0	0	0	0	1	0	0	11841	1124	39	2	1930	2	PHC2	1	33833011	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	587286	33833011	215417610	23	1467										
EIF2C4	192670	genome.wustl.edu	37	chr1	36282575	36282575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagccaatcattttcaggttCagattcctaaaatagatgtg	7	7	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:36282575C>A	ENST00000373210.3	+	2	357	c.112C>A	c.(112-114)Cag>Aag	p.Q38K		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	38					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TTTTCAGGTTCAGATTCCTAA	0.443																																																	0													122	123	122					1																	36282575		2203	4300	6503	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.112C>A	1.37:g.36282575C>A	ENSP00000362306:p.Gln38Lys		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q38K	ENST00000373210.3	37	c.112	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057742	0.36277	.	.	ENSG00000134698	ENST00000373210	T	0.08458	3.09	5.35	5.35	0.76521	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.05158	-0.105	0.58432	D	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	10	0.08837	T	0.75	-10.4863	14.6463	0.68764	0.0:0.8548:0.1452:0.0	.	38	Q9HCK5	AGO4_HUMAN	K	38	ENSP00000362306:Q38K	ENSP00000362306:Q38K	Q	+	1	0	EIF2C4	36055162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.937000	0.40193	2.522000	0.85027	0.655000	0.94253	CAG	EIF2C4	-	superfamily_PAZ		0.443	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	C	NM_017629		36282575	1	no_errors	ENST00000373210	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36282575	C	A	36282575	3	1	13	1	0	0	0	0	1	0	0	0	5018	827	29	3	118	3	EIF2C4	1	36282575	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2449564	36282575	212968046	24	1468										
GRIK3	2899	genome.wustl.edu	37	chr1	37337919	37337919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggagctgacggatcttcaggCggatgttgtatcttgatggg	16	6	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:37337919C>T	ENST00000373091.3	-	4	618	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R201H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	201					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GATCTTCAGGCGGATGTTGTA	0.567																																																	0													107	89	95					1																	37337919		2203	4300	6503	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.602G>A	1.37:g.37337919C>T	ENSP00000362183:p.Arg201His		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R201H	ENST00000373091.3	37	c.602	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778993	0.70107	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22134	1.97;1.97	5.22	5.22	0.72569	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.64997	1.995	0.53005	D	0.999966	D;D	0.63880	0.993;0.993	P;P	0.51866	0.682;0.682	T	0.04593	-1.0940	10	0.37606	T	0.19	.	18.7775	0.91916	0.0:1.0:0.0:0.0	.	201;201	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	201	ENSP00000362183:R201H;ENSP00000362185:R201H	ENSP00000362183:R201H	R	-	2	0	GRIK3	37110506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.970000	0.63742	2.460000	0.83146	0.561000	0.74099	CGC	GRIK3	-	pfam_ANF_lig-bd_rcpt		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	C	NM_000831		37337919	-1	no_errors	ENST00000373091	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37337919	C	T	37337919	3	4	13	1	0	0	0	0	1	0	0	0	6795	768	27	2	2209	2	GRIK3	1	37337919	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1055344	37337919	211912702	25	1469										
MACF1	23499	genome.wustl.edu	37	chr1	39888163	39888163	+	Missense_Mutation	SNP	G	G	A													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgtacagggtttagaacatGacatggaagagatcaatgct							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:39888163G>A	ENST00000372915.3	+	58	16036	c.15949G>A	c.(15949-15951)Gac>Aac	p.D5317N	MACF1_ENST00000567887.1_Missense_Mutation_p.D5349N|MACF1_ENST00000317713.7_Missense_Mutation_p.D3250N|MACF1_ENST00000564288.1_Missense_Mutation_p.D5312N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3752N|MACF1_ENST00000545844.1_Missense_Mutation_p.D3250N|MACF1_ENST00000361689.2_Missense_Mutation_p.D3250N|MACF1_ENST00000539005.1_Missense_Mutation_p.D3229N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5317					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTAGAACATGACATGGAAGA	0.428																																																	0													116	109	112					1																	39888163		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15949G>A	1.37:g.39888163G>A	ENSP00000362006:p.Asp5317Asn		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D3250N	ENST00000372915.3	37	c.9748		1	.	.	.	.	.	.	.	.	.	.	G	36	5.656264	0.96724	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000004	T	0.74291	0.3697	M	0.85542	2.76	0.80722	D	1	D;D;P	0.76494	0.999;0.984;0.956	D;P;P	0.77004	0.989;0.828;0.868	T	0.76313	-0.3005	10	0.66056	D	0.02	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	5317;3250;3194	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	N	3250;5317;3250;3250;3229;3752;66	ENSP00000439537:D3250N;ENSP00000362006:D5317N;ENSP00000354573:D3250N;ENSP00000313438:D3250N;ENSP00000444364:D3229N;ENSP00000289893:D3752N;ENSP00000433104:D66N	ENSP00000289893:D3752N	D	+	1	0	MACF1	39660750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.821000	0.97095	0.650000	0.86243	GAC	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39888163	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39888163	G	A	39888163	3	1	13	1	0	0	0	0	1	0	0	0	9167	1290	45	1	16113	1	MACF1	1	39888163	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2550244	39888163	209362458	26	1470	3	2								
MACF1	23499	genome.wustl.edu	37	chr1	39888169	39888169	+	Missense_Mutation	SNP	G	G	A													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agggtttagaacatgacatgGaagagatcaatgctcgatgg							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:39888169G>A	ENST00000372915.3	+	58	16042	c.15955G>A	c.(15955-15957)Gaa>Aaa	p.E5319K	MACF1_ENST00000567887.1_Missense_Mutation_p.E5351K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3252K|MACF1_ENST00000564288.1_Missense_Mutation_p.E5314K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3754K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3252K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3252K|MACF1_ENST00000539005.1_Missense_Mutation_p.E3231K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5319					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATGACATGGAAGAGATCAA	0.423																																																	0													113	106	109					1																	39888169		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15955G>A	1.37:g.39888169G>A	ENSP00000362006:p.Glu5319Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3252K	ENST00000372915.3	37	c.9754		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827169|4.827169	0.90955|0.90955	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.36340|.	1.26;1.26;1.26;1.26;1.26;1.26;1.26|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.092159|.	0.47093|.	D|.	0.000260|.	T|T	0.73916|0.73916	0.3648|0.3648	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	B;B;P|.	0.42010|.	0.322;0.32;0.768|.	B;B;P|.	0.49999|.	0.158;0.389;0.628|.	T|T	0.69098|0.69098	-0.5235|-0.5235	10|5	0.87932|.	D|.	0|.	.|.	20.3812|20.3812	0.98933|0.98933	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5319;3252;3196|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	K|E	3252;5319;3252;3252;3231;3754;68|2364	ENSP00000439537:E3252K;ENSP00000362006:E5319K;ENSP00000354573:E3252K;ENSP00000313438:E3252K;ENSP00000444364:E3231K;ENSP00000289893:E3754K;ENSP00000433104:E68K|.	ENSP00000289893:E3754K|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39660756|39660756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.864000|9.864000	0.99589|0.99589	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAA|GGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39888169	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39888169	G	A	39888169	3	1	13	1	0	0	0	0	1	0	0	0	9167	1175	41	1	16119	1	MACF1	1	39888169	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6	39888169	209362452	27	1471	3	2								
MFSD2A	84879	genome.wustl.edu	37	chr1	40422823	40422823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctttgctatgcacttggggGagccccctaccaggtgacgg	14	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:40422823G>C	ENST00000372809.5	+	2	301	c.158G>C	c.(157-159)gGa>gCa	p.G53A	MFSD2A_ENST00000372811.5_Missense_Mutation_p.G53A|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	53					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCACTTGGGGGAGCCCCCTAC	0.507																																																	0													191	203	199					1																	40422823		2203	4300	6503	SO:0001583	missense	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.158G>C	1.37:g.40422823G>C	ENSP00000361895:p.Gly53Ala		A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G53A	ENST00000372809.5	37	c.158	CCDS44118.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538101	0.85917	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.87029	-2.2;-2.2;-2.2	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	L	0.56396	1.775	0.80722	D	1	D;D	0.56746	0.977;0.972	P;P	0.61722	0.893;0.828	D	0.91825	0.5470	10	0.56958	D	0.05	-13.988	16.9853	0.86338	0.0:0.0:1.0:0.0	.	53;53	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	A	53;51;53	ENSP00000361898:G53A;ENSP00000407606:G51A;ENSP00000361895:G53A	ENSP00000361895:G53A	G	+	2	0	MFSD2A	40195410	1.000000	0.71417	0.995000	0.50966	0.894000	0.52154	9.174000	0.94824	2.250000	0.74265	0.462000	0.41574	GGA	MFSD2A	-	superfamily_MFS_dom_general_subst_transpt		0.507	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	HGNC	protein_coding	OTTHUMT00000025756.1	G	NM_032793		40422823	1	no_errors	ENST00000372809	ensembl	human	known	70_37	missense	SNP	0.998	C	C	40422823	G	C	40422823	3	2	13	1	0	0	0	0	1	0	0	0	9553	1174	41	1	164	1	MFSD2A	1	40422823	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	534654	40422823	208827798	28	1472										
KIAA0467	23334	genome.wustl.edu	37	chr1	43911609	43911609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tatccttggaacagagggtcGaggctccttctcctgcccta	10	13	1	1	rs371683327		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:43911609G>A	ENST00000562955.1	+	62	8699	c.8699G>A	c.(8698-8700)cGa>cAa	p.R2900Q	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.R2058Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2957					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACAGAGGGTCGAGGCTCCTTC	0.517																																																	0													75	71	72					1																	43911609		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8699G>A	1.37:g.43911609G>A	ENSP00000457168:p.Arg2900Gln		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.R2900Q	ENST00000562955.1	37	c.8699	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279139	0.59758	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.4	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.40543	1.245	0.22961	N	0.998505	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.786	T	0.52102	-0.8620	9	0.87932	D	0	.	14.3439	0.66646	0.0:0.0:0.8502:0.1498	.	2957;2900	Q5T011;Q5T011-5	SZT2_HUMAN;.	Q	2058	.	ENSP00000361519:R2058Q	R	+	2	0	SZT2	43684196	1.000000	0.71417	0.840000	0.33206	0.531000	0.34715	7.204000	0.77872	1.239000	0.43787	-0.181000	0.13052	CGA	SZT2	-	NULL		0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	G	NM_015284		43911609	1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.987	A	A	43911609	G	A	43911609	3	1	13	1	0	0	0	0	1	0	0	0	8198	1058	37	1	6355	1	KIAA0467	1	43911609	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3488786	43911609	205339012	29	1473										
DPH2	1802	genome.wustl.edu	37	chr1	44437211	44437211	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccccagggaggcgtctagaaGagtatggtgccttctatgta	13	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:44437211G>C	ENST00000255108.3	+	4	809	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.E78Q|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	213					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGTCTAGAAGAGTATGGTGC	0.622																																																	0													70	74	72					1																	44437211		2203	4300	6503	SO:0001583	missense	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.637G>C	1.37:g.44437211G>C	ENSP00000255108:p.Glu213Gln		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.E213Q	ENST00000255108.3	37	c.637	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431169	0.25726	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	T	0.42513	0.97	4.47	4.47	0.54385	.	0.181406	0.46442	D	0.000296	T	0.33235	0.0856	L	0.34521	1.04	0.31302	N	0.688135	P;P	0.48764	0.915;0.891	B;P	0.45753	0.3;0.492	T	0.38243	-0.9670	10	0.45353	T	0.12	-15.5388	7.1679	0.25702	0.087:0.0:0.7421:0.1709	.	78;213	B4DNI8;Q9BQC3	.;DPH2_HUMAN	Q	213;78	ENSP00000255108:E213Q	ENSP00000255108:E213Q	E	+	1	0	DPH2	44209798	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.429000	0.66495	2.300000	0.77407	0.552000	0.68991	GAG	DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	G	NM_001384		44437211	1	no_errors	ENST00000255108	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44437211	G	C	44437211	3	2	13	1	0	0	0	0	1	0	0	0	4730	943	33	1	651	1	DPH2	1	44437211	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	525602	44437211	204813410	30	1474										
KIF2C	11004	genome.wustl.edu	37	chr1	45218872	45218872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggatggtcagcgaggagatgGaagagcaagtccattccatc	14	8	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:45218872G>C	ENST00000372224.4	+	6	621	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000372222.3_Missense_Mutation_p.E57Q|KIF2C_ENST00000372217.1_Missense_Mutation_p.E116Q|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	170	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGAGGAGATGGAAGAGCAAGT	0.547																																																	0													187	158	167					1																	45218872		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.508G>C	1.37:g.45218872G>C	ENSP00000361298:p.Glu170Gln		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E170Q	ENST00000372224.4	37	c.508	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.178867	0.38511	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.75050	-0.86;0.95;-0.9;-0.88	5.26	5.26	0.73747	.	0.230082	0.31257	N	0.007965	T	0.57695	0.2071	N	0.14661	0.345	0.39386	D	0.96633	B;P	0.48764	0.058;0.915	B;B	0.42062	0.049;0.374	T	0.58272	-0.7665	10	0.18276	T	0.48	.	14.2382	0.65941	0.0:0.0:1.0:0.0	.	116;170	Q99661-2;Q99661	.;KIF2C_HUMAN	Q	170;161;57;116	ENSP00000361298:E170Q;ENSP00000395050:E161Q;ENSP00000361296:E57Q;ENSP00000361291:E116Q	ENSP00000361291:E116Q	E	+	1	0	KIF2C	44991459	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.515000	0.60489	2.750000	0.94351	0.561000	0.74099	GAA	KIF2C	-	NULL		0.547	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	G	NM_006845		45218872	1	no_errors	ENST00000372224	ensembl	human	known	70_37	missense	SNP	0.997	C	C	45218872	G	C	45218872	3	2	13	1	0	0	0	0	1	0	0	0	8319	1175	41	1	530	1	KIF2C	1	45218872	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	781661	45218872	204031749	31	1475										
NASP	4678	genome.wustl.edu	37	chr1	46073553	46073553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggtagttacctctgaaaacGaggcaggaaaggcggttctt	13	7	2	1	rs201446871		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:46073553G>A	ENST00000350030.3	+	6	1057	c.970G>A	c.(970-972)Gag>Aag	p.E324K	NASP_ENST00000402363.3_Missense_Mutation_p.E326K|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E260K|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	324	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTCTGAAAACGAGGCAGGAAA	0.542																																																	0													66	64	65					1																	46073553		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.970G>A	1.37:g.46073553G>A	ENSP00000255120:p.Glu324Lys		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E326K	ENST00000350030.3	37	c.976	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	3.877	-0.026812	0.07589	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D	0.94537	-3.45;-3.45;-3.45	5.24	4.33	0.51752	.	0.422095	0.22714	N	0.056538	D	0.88511	0.6456	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.004;0.004;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.001;0.003;0.001;0.002	T	0.76116	-0.3077	9	.	.	.	-0.1991	8.8854	0.35400	0.0854:0.1919:0.7227:0.0	.	260;324;224;324;326	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	K	260;326;224;324;287	ENSP00000438871:E260K;ENSP00000384529:E326K;ENSP00000255120:E324K	.	E	+	1	0	NASP	45846140	0.335000	0.24748	0.166000	0.22797	0.014000	0.08584	1.324000	0.33712	1.539000	0.49286	0.557000	0.71058	GAG	NASP	-	NULL		0.542	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	G	NM_002482		46073553	1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	0.022	A	A	46073553	G	A	46073553	3	1	13	1	0	0	0	0	1	0	0	0	10195	1059	37	1	1069	1	NASP	1	46073553	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	854681	46073553	203177068	32	1476										
FAAH	2166	genome.wustl.edu	37	chr1	46877860	46877860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtggagggcgctggacctgGatgtggtgctgacccccatg	17	10	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:46877860G>T	ENST00000243167.8	+	13	1486	c.1402G>T	c.(1402-1404)Gat>Tat	p.D468Y		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	468					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCTGGACCTGGATGTGGTGCT	0.632																																																	0													96	92	93					1																	46877860		2188	4280	6468	SO:0001583	missense	2166			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1402G>T	1.37:g.46877860G>T	ENSP00000243167:p.Asp468Tyr		D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.D468Y	ENST00000243167.8	37	c.1402	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488639	0.84854	.	.	ENSG00000117480	ENST00000243167	T	0.77877	-1.13	4.86	4.86	0.63082	Amidase signature domain (2);	0.000000	0.85682	D	0.000000	D	0.92335	0.7568	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94850	0.8013	10	0.87932	D	0	-31.8176	18.176	0.89761	0.0:0.0:1.0:0.0	.	468	O00519	FAAH1_HUMAN	Y	468	ENSP00000243167:D468Y	ENSP00000243167:D468Y	D	+	1	0	FAAH	46650447	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	8.476000	0.90421	2.529000	0.85273	0.655000	0.94253	GAT	FAAH	-	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun		0.632	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	G	NM_001441		46877860	1	no_errors	ENST00000243167	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46877860	G	T	46877860	3	4	13	1	0	0	0	0	1	0	0	0	5368	1174	41	3	1452	3	FAAH	1	46877860	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	804307	46877860	202372761	33	1477										
ZFYVE9	9372	genome.wustl.edu	37	chr1	52798442	52798442	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttatctctttgattgcagatGatgaaagccatgaacaagtc	8	7	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:52798442G>C	ENST00000371591.1	+	13	3572	c.3441G>C	c.(3439-3441)atG>atC	p.M1147I	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.M1088I|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.M1147I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1147					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATTGCAGATGATGAAAGCCA	0.408																																																	0													82	75	78					1																	52798442		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3441G>C	1.37:g.52798442G>C	ENSP00000360647:p.Met1147Ile		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.M1147I	ENST00000371591.1	37	c.3441	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797914	0.50208	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.37235	1.31;1.21;1.21	4.83	4.83	0.62350	Domain of unknown function DUF3480 (1);	0.125321	0.52532	D	0.000075	T	0.28896	0.0717	L	0.31065	0.9	0.52501	D	0.999957	B;B	0.33171	0.4;0.001	B;B	0.26969	0.075;0.026	T	0.17198	-1.0377	10	0.66056	D	0.02	.	18.1117	0.89538	0.0:0.0:1.0:0.0	.	1088;1147	O95405-2;O95405	.;ZFYV9_HUMAN	I	1088;1147;1147	ENSP00000349737:M1088I;ENSP00000287727:M1147I;ENSP00000360647:M1147I	ENSP00000287727:M1147I	M	+	3	0	ZFYVE9	52571030	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.114000	0.71560	2.518000	0.84900	0.557000	0.71058	ATG	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.408	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	G	NM_007324		52798442	1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52798442	G	C	52798442	3	2	13	1	0	0	0	0	1	0	0	0	17701	1290	45	1	3498	1	ZFYVE9	1	52798442	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5920582	52798442	196452179	34	1478										
C1orf123	54987	genome.wustl.edu	37	chr1	53685956	53685956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggtaccaccggaagtcctCgcccacgggccggaggttgg	15	14	0	0	rs377269419		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:53685956C>T	ENST00000294360.4	-	2	108	c.67G>A	c.(67-69)Gag>Aag	p.E23K	C1orf123_ENST00000470385.1_5'UTR|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	23						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CGGAAGTCCTCGCCCACGGGC	0.672																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	49	53	51		67	4.2	1	1		51	0,8600		0,0,4300	no	missense	C1orf123	NM_017887.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	23/161	53685956	1,13005	2203	4300	6503	SO:0001583	missense	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.67G>A	1.37:g.53685956C>T	ENSP00000294360:p.Glu23Lys			Missense_Mutation	SNP	pfam_DUF866_euk	p.E23K	ENST00000294360.4	37	c.67	CCDS576.1	1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361683	0.61403	2.27E-4	0.0	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	6.07	4.2	0.49525	.	0.107337	0.64402	D	0.000009	T	0.58666	0.2138	M	0.74546	2.27	0.58432	D	0.999992	D	0.54964	0.969	B	0.43838	0.433	T	0.61671	-0.7015	9	0.48119	T	0.1	-30.6724	11.6416	0.51235	0.1249:0.8111:0.0:0.064	.	23	Q9NWV4	CA123_HUMAN	K	23	.	ENSP00000294360:E23K	E	-	1	0	C1orf123	53458544	0.995000	0.38212	1.000000	0.80357	0.003000	0.03518	3.318000	0.51975	0.888000	0.36160	-0.961000	0.02630	GAG	C1orf123	-	pfam_DUF866_euk		0.672	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	C	NM_017887		53685956	-1	no_errors	ENST00000294360	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53685956	C	T	53685956	3	4	13	1	0	0	0	0	1	0	0	0	1996	893	31	1	443	1	C1orf123	1	53685956	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	887514	53685956	195564665	35	1479										
GLIS1	148979	genome.wustl.edu	37	chr1	53995600	53995600	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcttgaggttctccagccgtGagaaggccttgctgcagcct	12	12	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:53995600G>A	ENST00000312233.2	-	4	1387	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCCAGCCGTGAGAAGGCCTT	0.632																																																	0													47	51	50					1																	53995600		2203	4300	6503	SO:0001583	missense	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.821C>T	1.37:g.53995600G>A	ENSP00000309653:p.Ser274Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S274L	ENST00000312233.2	37	c.821	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.183754	0.94885	.	.	ENSG00000174332	ENST00000312233	T	0.18810	2.19	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000712	T	0.37544	0.1007	L	0.43757	1.38	0.80722	D	1	D	0.61080	0.989	P	0.62184	0.899	T	0.23261	-1.0193	10	0.87932	D	0	.	17.7575	0.88453	0.0:0.0:1.0:0.0	.	274	Q8NBF1	GLIS1_HUMAN	L	274	ENSP00000309653:S274L	ENSP00000309653:S274L	S	-	2	0	GLIS1	53768188	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.813000	0.99286	2.271000	0.75665	0.491000	0.48974	TCA	GLIS1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	G	NM_147193		53995600	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53995600	G	A	53995600	3	1	13	1	0	0	0	0	1	0	0	0	6464	1294	45	1	1069	1	GLIS1	1	53995600	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	309644	53995600	195255021	36	1480										
C1orf177	163747	genome.wustl.edu	37	chr1	55273258	55273258	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgcttcagcaagaagaagctGatgaaggaggtggacacagg	15	6	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:55273258G>A	ENST00000371273.3	+	3	267	c.252G>A	c.(250-252)ctG>ctA	p.L84L	C1orf177_ENST00000358193.3_Silent_p.L84L	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	84										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AGAAGAAGCTGATGAAGGAGG	0.597																																																	0													28	29	29					1																	55273258		2203	4300	6503	SO:0001819	synonymous_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.252G>A	1.37:g.55273258G>A			B7WPL2|Q8N7Y9	Silent	SNP	NULL	p.L84	ENST00000371273.3	37	c.252	CCDS44153.1	1																																																																																			C1orf177	-	NULL		0.597	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	G	NM_152607		55273258	1	no_errors	ENST00000371273	ensembl	human	known	70_37	silent	SNP	0.660	A	A	55273258	G	A	55273258	2	1	13	1	0	0	0	0	0	0	0	1	2022	1277	45	1		1	C1orf177	1	55273258	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1277658	55273258	193977363	37	1481										
C8B	732	genome.wustl.edu	37	chr1	57406596	57406596	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggtccgccgtcggcagctCctggtatgccagggtggtga	16	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:57406596C>G	ENST00000371237.4	-	9	1390	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	C8B_ENST00000535057.1_Missense_Mutation_p.E380Q|C8B_ENST00000543257.1_Missense_Mutation_p.E390Q	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	442	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTCGGCAGCTCCTGGTATGCC	0.572																																																	0													149	111	124					1																	57406596		2203	4300	6503	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1324G>C	1.37:g.57406596C>G	ENSP00000360281:p.Glu442Gln		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.E442Q	ENST00000371237.4	37	c.1324	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003824	0.07773	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.27256	1.86;1.86;1.68	5.36	2.36	0.29203	Membrane attack complex component/perforin (MACPF) domain (3);	0.709272	0.14902	N	0.291743	T	0.15869	0.0382	N	0.25144	0.715	0.09310	N	1	B;B;B	0.15473	0.006;0.006;0.013	B;B;B	0.15052	0.005;0.007;0.012	T	0.26608	-1.0098	10	0.15066	T	0.55	-1.2338	11.3348	0.49498	0.0:0.6941:0.2387:0.0672	.	390;380;442	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Q	442;390;380	ENSP00000360281:E442Q;ENSP00000442548:E390Q;ENSP00000440113:E380Q	ENSP00000360281:E442Q	E	-	1	0	C8B	57179184	0.325000	0.24660	0.016000	0.15963	0.139000	0.21198	1.588000	0.36633	0.712000	0.32039	0.655000	0.94253	GAG	C8B	-	pfam_MACPF,smart_MACPF		0.572	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	C			57406596	-1	no_errors	ENST00000371237	ensembl	human	known	70_37	missense	SNP	0.058	G	G	57406596	C	G	57406596	3	3	13	1	0	0	0	0	1	0	0	0	2422	864	30	1	467	1	C8B	1	57406596	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2133338	57406596	191844025	38	1482										
JUN	3725	genome.wustl.edu	37	chr1	59247748	59247748	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcccccgacggtctctcttCaaaatgtttgcaactgctgc	8	14	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:59247748C>G	ENST00000371222.2	-	1	2037	c.995G>C	c.(994-996)tGa>tCa	p.*332S		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	0					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GGTCTCTCTTCAAAATGTTTG	0.463			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													81	82	82					1																	59247748		2203	4300	6503	SO:0001578	stop_lost	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.995G>C	1.37:g.59247748C>G		1037	Q6FHM7|Q96G93	Nonstop_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.*332S	ENST00000371222.2	37	c.995	CCDS610.1	1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771384	0.31320	.	.	ENSG00000177606	ENST00000371222	.	.	.	3.24	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.748	0.77962	0.0:1.0:0.0:0.0	.	.	.	.	S	332	.	.	X	-	2	2	JUN	59020336	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.239000	0.78182	2.108000	0.64289	0.561000	0.74099	TGA	JUN	-	NULL		0.463	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1	C	NM_002228		59247748	-1	no_errors	ENST00000371222	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	59247748	C	G	59247748	4	3	13	1	0	0	0	0	0	0	0	0	7989	837	29	1	4	1	JUN	1	59247748	Nonstop_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1841152	59247748	190002873	39	1483										
INADL	10207	genome.wustl.edu	37	chr1	62579784	62579784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccatcacagccctgaggcaGaccccccagaaggtgcggct	12	16	1	3	rs201005049		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:62579784G>C	ENST00000371158.2	+	35	4635	c.4521G>C	c.(4519-4521)caG>caC	p.Q1507H	INADL_ENST00000545929.1_Missense_Mutation_p.Q152H|INADL_ENST00000316485.6_Missense_Mutation_p.Q1537H|INADL_ENST00000543708.1_Missense_Mutation_p.Q321H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1507	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCCTGAGGCAGACCCCCCAGA	0.557																																																	0													72	66	68					1																	62579784		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4521G>C	1.37:g.62579784G>C	ENSP00000360200:p.Gln1507His		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.Q1507H	ENST00000371158.2	37	c.4521	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584189	0.46110	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	T;T;T;T	0.27890	1.64;1.64;1.64;2.24	5.63	3.72	0.42706	PDZ/DHR/GLGF (4);	0.085636	0.45867	D	0.000322	T	0.35364	0.0929	M	0.68728	2.09	0.51482	D	0.999929	B;B;B;B;B;B	0.25206	0.004;0.12;0.002;0.019;0.001;0.005	B;B;B;B;B;B	0.32724	0.012;0.151;0.006;0.031;0.018;0.031	T	0.31752	-0.9932	10	0.62326	D	0.03	.	11.6348	0.51198	0.0674:0.1236:0.809:0.0	.	152;321;966;1537;1507;1479	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	H	1507;1537;1537;1479;321;152	ENSP00000360200:Q1507H;ENSP00000326199:Q1537H;ENSP00000445790:Q321H;ENSP00000440094:Q152H	ENSP00000326199:Q1537H	Q	+	3	2	INADL	62352372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.343000	0.44001	1.352000	0.45808	0.655000	0.94253	CAG	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.557	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	G	NM_170605		62579784	1	no_errors	ENST00000371158	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62579784	G	C	62579784	3	2	13	1	0	0	0	0	1	0	0	0	7751	933	33	1	4655	1	INADL	1	62579784	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3332036	62579784	186670837	40	1484										
ATG4C	84938	genome.wustl.edu	37	chr1	63282267	63282267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgaagataaaacgttacctgCagagtcgggatgtacaatag	11	6	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:63282267C>T	ENST00000317868.4	+	4	389	c.182C>T	c.(181-183)gCa>gTa	p.A61V	ATG4C_ENST00000371120.3_Missense_Mutation_p.A61V	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	61					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ACGTTACCTGCAGAGTCGGGA	0.338																																																	0													66	67	66					1																	63282267		2203	4300	6503	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.182C>T	1.37:g.63282267C>T	ENSP00000322159:p.Ala61Val		A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	pfam_Peptidase_C54	p.A61V	ENST00000317868.4	37	c.182	CCDS623.1	1	.	.	.	.	.	.	.	.	.	.	C	4.312	0.057228	0.08339	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	.	.	.	5.31	1.86	0.25419	.	0.701562	0.14820	N	0.296532	T	0.04634	0.0126	N	0.03115	-0.41	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.38929	-0.9638	9	0.29301	T	0.29	-13.0393	5.0071	0.14293	0.1639:0.6168:0.0:0.2192	.	61	Q96DT6	ATG4C_HUMAN	V	61	.	ENSP00000322159:A61V	A	+	2	0	ATG4C	63054855	0.542000	0.26426	0.941000	0.38009	0.094000	0.18550	1.005000	0.29834	0.708000	0.31955	0.655000	0.94253	GCA	ATG4C	-	NULL		0.338	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4C	HGNC	protein_coding	OTTHUMT00000025332.2	C	NM_032852		63282267	1	no_errors	ENST00000317868	ensembl	human	known	70_37	missense	SNP	0.010	T	T	63282267	C	T	63282267	3	4	13	1	0	0	0	0	1	0	0	0	1099	710	25	4	192	4	ATG4C	1	63282267	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	702483	63282267	185968354	41	1485										
PDE4B	5142	genome.wustl.edu	37	chr1	66384365	66384365	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatcgacctctggagagggaGaaggtgttgctcaggaaact	15	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:66384365G>A	ENST00000329654.4	+	3	315	c.128G>A	c.(127-129)aGa>aAa	p.R43K	PDE4B_ENST00000371049.3_Missense_Mutation_p.R43K	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	43					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGGAGAGGGAGAAGGTGTTGC	0.463																																																	0													91	87	88					1																	66384365		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.128G>A	1.37:g.66384365G>A	ENSP00000332116:p.Arg43Lys		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R43K	ENST00000329654.4	37	c.128	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429380	0.62844	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.17528	2.27;2.27;2.27	5.6	5.6	0.85130	.	0.520658	0.21625	N	0.071570	T	0.06690	0.0171	L	0.39898	1.24	0.31506	N	0.664223	B	0.02656	0.0	B	0.04013	0.001	T	0.12528	-1.0544	10	0.34782	T	0.22	.	11.6216	0.51121	0.0821:0.0:0.9179:0.0	.	43	Q07343	PDE4B_HUMAN	K	43	ENSP00000332116:R43K;ENSP00000342637:R43K;ENSP00000360088:R43K	ENSP00000332116:R43K	R	+	2	0	PDE4B	66156953	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.867000	0.75511	2.626000	0.88956	0.650000	0.86243	AGA	PDE4B	-	NULL		0.463	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66384365	1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66384365	G	A	66384365	3	1	13	1	0	0	0	0	1	0	0	0	11664	942	33	1	134	1	PDE4B	1	66384365	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3102098	66384365	182866256	42	1486										
SLC44A5	204962	genome.wustl.edu	37	chr1	75683550	75683550	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcaggacatctgaaatcttaCgtttaagacggtggtccaag	10	8	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:75683550C>T	ENST00000370855.5	-	18	1738		c.e18+1		SLC44A5_ENST00000535611.1_Splice_Site|SLC44A5_ENST00000370859.3_Splice_Site	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGAAATCTTACGTTTAAGACG	0.368																																																	0													51	53	52					1																	75683550		2202	4299	6501	SO:0001630	splice_region_variant	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1624+1G>A	1.37:g.75683550C>T			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	-	e17+1	ENST00000370855.5	37	c.1624+1	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494424	0.64186	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3261	0.98701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC44A5	75456138	1.000000	0.71417	0.967000	0.41034	0.374000	0.29953	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	.	SLC44A5	-	-		0.368	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	C	NM_152697	Intron	75683550	-1	no_errors	ENST00000370855	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	75683550	C	T	75683550	5	4	13	1	0	0	0	0	0	0	1	0	14669	550	19	2	673	2	SLC44A5	1	75683550	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9299185	75683550	173567071	43	1487										
USP33	23032	genome.wustl.edu	37	chr1	78194240	78194240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctctatcactgttgctacaaGattcacaagactgaaaatct	5	10	4	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:78194240G>A	ENST00000370793.1	-	11	1314	c.968C>T	c.(967-969)tCt>tTt	p.S323F	USP33_ENST00000370792.3_Missense_Mutation_p.S323F|USP33_ENST00000357428.1_Missense_Mutation_p.S323F|USP33_ENST00000370794.3_Missense_Mutation_p.S292F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	323	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTTGCTACAAGATTCACAAGA	0.373																																					Melanoma(152;72 1870 11110 26780 42647)												0													183	156	165					1																	78194240		2203	4300	6503	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.968C>T	1.37:g.78194240G>A	ENSP00000359829:p.Ser323Phe		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S323F	ENST00000370793.1	37	c.968	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597118	0.87055	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.11930	2.75;2.73;2.73;2.73	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.440664	0.23035	N	0.052693	T	0.28830	0.0715	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.977;0.988;0.996	T	0.02766	-1.1113	10	0.18710	T	0.47	.	18.3287	0.90261	0.0:0.0:1.0:0.0	.	323;292;323	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	F	292;323;323;323	ENSP00000359830:S292F;ENSP00000359829:S323F;ENSP00000350009:S323F;ENSP00000359828:S323F	ENSP00000350009:S323F	S	-	2	0	USP33	77966828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.091000	0.94151	2.657000	0.90304	0.591000	0.81541	TCT	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	G	NM_015017		78194240	-1	no_errors	ENST00000357428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78194240	G	A	78194240	3	1	13	1	0	0	0	0	1	0	0	0	17095	942	33	1	1932	1	USP33	1	78194240	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2510690	78194240	171056381	44	1488										
TTLL7	79739	genome.wustl.edu	37	chr1	84412895	84412895	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttcacataattttggaattGagtatattcagcaggaaaga	8	4	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:84412895G>C	ENST00000260505.8	-	6	795	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	140	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTTGGAATTGAGTATATTCA	0.358																																																	0													90	92	91					1																	84412895		2203	4300	6503	SO:0001583	missense	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.418C>G	1.37:g.84412895G>C	ENSP00000260505:p.Gln140Glu		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q140E	ENST00000260505.8	37	c.418	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935301	0.52866	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.05447	3.44	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	T	0.01835	0.0058	N	0.11427	0.14	0.80722	D	1	P	0.35872	0.525	B	0.34590	0.186	T	0.57027	-0.7881	10	0.13108	T	0.6	.	19.5413	0.95275	0.0:0.0:1.0:0.0	.	140	Q6ZT98	TTLL7_HUMAN	E	140	ENSP00000260505:Q140E	ENSP00000260505:Q140E	Q	-	1	0	TTLL7	84185483	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.394000	0.97261	2.620000	0.88729	0.650000	0.86243	CAA	TTLL7	-	pfam_Tub_tyr_ligase		0.358	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	G	NM_024686		84412895	-1	no_errors	ENST00000260505	ensembl	human	known	70_37	missense	SNP	1.000	C	C	84412895	G	C	84412895	3	2	13	1	0	0	0	0	1	0	0	0	16763	1299	45	1	2309	1	TTLL7	1	84412895	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6218655	84412895	164837726	45	1489										
SSX2IP	117178	genome.wustl.edu	37	chr1	85122058	85122058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctgttgctgagttttaatCatttctttacactgctgaat	7	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:85122058C>T	ENST00000342203.3	-	10	1451	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	SSX2IP_ENST00000605755.1_Missense_Mutation_p.M369I|SSX2IP_ENST00000437941.2_Missense_Mutation_p.M369I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.M396I|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	396					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAGTTTTAATCATTTCTTTAC	0.353																																																	0													137	130	133					1																	85122058		2202	4298	6500	SO:0001583	missense	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1188G>A	1.37:g.85122058C>T	ENSP00000340279:p.Met396Ile		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.M396I	ENST00000342203.3	37	c.1188	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119442	0.37436	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.39592	1.07;1.07	5.62	5.62	0.85841	.	0.135838	0.64402	D	0.000001	T	0.20455	0.0492	L	0.51422	1.61	0.38515	D	0.948573	B;B;B	0.19331	0.035;0.023;0.023	B;B;B	0.18871	0.023;0.018;0.018	T	0.05971	-1.0853	10	0.09084	T	0.74	-28.6811	15.1664	0.72828	0.0:0.8594:0.1406:0.0	.	392;396;369	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	396;369;392;396	ENSP00000340279:M396I;ENSP00000412781:M369I	ENSP00000340279:M396I	M	-	3	0	SSX2IP	84894646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.701000	0.54793	2.650000	0.89964	0.591000	0.81541	ATG	SSX2IP	-	NULL		0.353	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	C	NM_014021		85122058	-1	no_errors	ENST00000342203	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85122058	C	T	85122058	3	4	13	1	0	0	0	0	1	0	0	0	15234	826	29	1	676	1	SSX2IP	1	85122058	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	709163	85122058	164128563	46	1490										
OLFM3	118427	genome.wustl.edu	37	chr1	102271722	102271722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtaactgggcctgtgattttCatcagtttgccacatgctga	10	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:102271722C>T	ENST00000338858.5	-	5	668	c.669G>A	c.(667-669)atG>atA	p.M223I	OLFM3_ENST00000370103.4_Missense_Mutation_p.M203I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	223	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTGTGATTTTCATCAGTTTGC	0.433																																																	0													139	126	130					1																	102271722		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.669G>A	1.37:g.102271722C>T	ENSP00000345192:p.Met223Ile		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.M223I	ENST00000338858.5	37	c.669		1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653258	0.88056	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.88201	-2.35;-2.35	5.17	5.17	0.71159	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	L	0.37507	1.11	0.80722	D	1	B;B	0.34372	0.035;0.451	B;B	0.32624	0.03;0.149	T	0.80207	-0.1478	10	0.37606	T	0.19	.	18.667	0.91493	0.0:1.0:0.0:0.0	.	203;223	Q5T3V6;Q96PB7	.;NOE3_HUMAN	I	74;203;223	ENSP00000359121:M203I;ENSP00000345192:M223I	ENSP00000345192:M223I	M	-	3	0	OLFM3	102044310	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.747000	0.85070	2.423000	0.82170	0.591000	0.81541	ATG	OLFM3	-	pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like		0.433	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	C			102271722	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102271722	C	T	102271722	3	4	13	1	0	0	0	0	1	0	0	0	10878	826	29	1	775	1	OLFM3	1	102271722	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	17149664	102271722	146978899	47	1491										
UBL4B	164153	genome.wustl.edu	37	chr1	110655268	110655268	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaggcggctgaaggtgcctGaggagcagcagcacctgctt	15	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:110655268G>A	ENST00000334179.3	+	1	207	c.112G>A	c.(112-114)Gag>Aag	p.E38K	RP4-773N10.6_ENST00000554808.1_RNA	NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	38	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GAAGGTGCCTGAGGAGCAGCA	0.567																																																	0													91	87	88					1																	110655268		2203	4300	6503	SO:0001583	missense	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.112G>A	1.37:g.110655268G>A	ENSP00000334044:p.Glu38Lys			Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E38K	ENST00000334179.3	37	c.112	CCDS820.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106560	0.77096	.	.	ENSG00000186150	ENST00000334179	T	0.72835	-0.69	4.6	4.6	0.57074	Ubiquitin supergroup (1);Ubiquitin (2);	0.147817	0.44483	D	0.000460	T	0.66607	0.2806	L	0.29908	0.895	0.33281	D	0.562225	D	0.71674	0.998	D	0.69307	0.963	T	0.67177	-0.5736	10	0.37606	T	0.19	-20.8935	14.4158	0.67148	0.0:0.0:1.0:0.0	.	38	Q8N7F7	UBL4B_HUMAN	K	38	ENSP00000334044:E38K	ENSP00000334044:E38K	E	+	1	0	UBL4B	110456791	0.997000	0.39634	0.869000	0.34112	0.792000	0.44763	4.426000	0.59882	2.366000	0.80165	0.655000	0.94253	GAG	UBL4B	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.567	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4B	HGNC	protein_coding	OTTHUMT00000392303.1	G	NM_203412		110655268	1	no_errors	ENST00000334179	ensembl	human	known	70_37	missense	SNP	0.965	A	A	110655268	G	A	110655268	3	1	13	1	0	0	0	0	1	0	0	0	16919	1291	45	1	114	1	UBL4B	1	110655268	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8383546	110655268	138595353	48	1492										
ATP5F1	515	genome.wustl.edu	37	chr1	111998857	111998857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctttgttgcagactttgctGataaactcaatgaggtaaga	9	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:111998857G>A	ENST00000369722.3	+	4	979	c.373G>A	c.(373-375)Gat>Aat	p.D125N	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.D64N	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	125					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGACTTTGCTGATAAACTCAA	0.358																																																	0													107	109	108					1																	111998857		2203	4300	6503	SO:0001583	missense	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.373G>A	1.37:g.111998857G>A	ENSP00000358737:p.Asp125Asn		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.D125N	ENST00000369722.3	37	c.373	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959864	0.92791	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.35789	1.29;1.29	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70450	-0.4868	10	0.87932	D	0	.	19.0595	0.93081	0.0:0.0:1.0:0.0	.	125;125	Q08ET0;P24539	.;AT5F1_HUMAN	N	125;64	ENSP00000358737:D125N;ENSP00000420366:D64N	ENSP00000358737:D125N	D	+	1	0	ATP5F1	111800380	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.077000	0.94016	2.670000	0.90874	0.655000	0.94253	GAT	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt		0.358	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	G	NM_001688		111998857	1	no_errors	ENST00000369722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111998857	G	A	111998857	3	1	13	1	0	0	0	0	1	0	0	0	1153	1290	45	1	387	1	ATP5F1	1	111998857	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1343589	111998857	137251764	49	1493										
BCAS2	10286	genome.wustl.edu	37	chr1	115124155	115124155	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggggcttcataaccttgatCaaaatacggcagcgcatcca	9	11	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:115124155C>G	ENST00000369541.3	-	1	105	c.58G>C	c.(58-60)Gat>Cat	p.D20H	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	20					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAACCTTGATCAAAATACGGC	0.547																																																	0													80	73	75					1																	115124155		2203	4300	6503	SO:0001583	missense	10286			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.58G>C	1.37:g.115124155C>G	ENSP00000358554:p.Asp20His		Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.D20H	ENST00000369541.3	37	c.58	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.385211	0.95967	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84428	0.5470	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86716	0.1939	9	0.87932	D	0	-12.0007	19.9747	0.97299	0.0:1.0:0.0:0.0	.	20	O75934	SPF27_HUMAN	H	20	.	ENSP00000358554:D20H	D	-	1	0	BCAS2	114925678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.957000	0.76019	2.715000	0.92844	0.551000	0.68910	GAT	BCAS2	-	pfam_BCAS2		0.547	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	C	NM_005872		115124155	-1	no_errors	ENST00000369541	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115124155	C	G	115124155	3	3	13	1	0	0	0	0	1	0	0	0	1352	826	29	1	647	1	BCAS2	1	115124155	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3125298	115124155	134126466	50	1494										
TSPAN2	10100	genome.wustl.edu	37	chr1	115601508	115601508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagtgaagttactcactgttGagtggaaggtgatgagtgtc	14	4	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:115601508G>A	ENST00000369516.2	-	5	471	c.440C>T	c.(439-441)tCa>tTa	p.S147L	TSPAN2_ENST00000369515.2_Missense_Mutation_p.S122L|TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369514.2_Missense_Mutation_p.S147L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	147				HST -> PLQH (in Ref. 1; AAC69715). {ECO:0000305}.	astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTCACTGTTGAGTGGAAGGT	0.393																																																	0													239	217	225					1																	115601508		2203	4300	6503	SO:0001583	missense	10100			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.440C>T	1.37:g.115601508G>A	ENSP00000358529:p.Ser147Leu		D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S147L	ENST00000369516.2	37	c.440	CCDS881.1	1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222248	0.09863	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.8	5.8	0.92144	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.471649	0.23887	N	0.043594	T	0.60274	0.2256	L	0.34521	1.04	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.57201	-0.7852	10	0.32370	T	0.25	.	12.528	0.56098	0.0:0.0:0.8337:0.1663	.	147	O60636	TSN2_HUMAN	L	147;122;141;147	ENSP00000358529:S147L;ENSP00000358528:S122L;ENSP00000415256:S141L;ENSP00000358527:S147L	ENSP00000358527:S147L	S	-	2	0	TSPAN2	115403031	0.991000	0.36638	0.986000	0.45419	0.400000	0.30750	2.044000	0.41241	2.755000	0.94549	0.655000	0.94253	TCA	TSPAN2	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.393	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	HGNC	protein_coding	OTTHUMT00000032828.1	G	NM_005725		115601508	-1	no_errors	ENST00000369516	ensembl	human	known	70_37	missense	SNP	0.956	A	A	115601508	G	A	115601508	3	1	13	1	0	0	0	0	1	0	0	0	16675	1294	45	1	241	1	TSPAN2	1	115601508	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	477353	115601508	133649113	51	1495										
NOTCH2	4853	genome.wustl.edu	37	chr1	120468178	120468178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctcagacaggtggcaggagGggtgctggggggtgccgtgt	22	7	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:120468178G>A	ENST00000256646.2	-	25	4480	c.4261C>T	c.(4261-4263)Cct>Tct	p.P1421S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1421					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCAGGAGGGGTGCTGGGG	0.627			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													51	56	54					1																	120468178		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4261C>T	1.37:g.120468178G>A	ENSP00000256646:p.Pro1421Ser		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P1421S	ENST00000256646.2	37	c.4261	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528016	0.27299	.	.	ENSG00000134250	ENST00000256646	D	0.81996	-1.56	5.72	5.72	0.89469	Notch domain (2);	0.000000	0.37530	U	0.002041	T	0.48822	0.1521	N	0.08118	0	0.09310	N	0.999999	B	0.20164	0.042	B	0.26202	0.067	T	0.17715	-1.0360	10	0.09590	T	0.72	.	13.2997	0.60317	0.0:0.1705:0.8295:0.0	.	1421	Q04721	NOTC2_HUMAN	S	1421	ENSP00000256646:P1421S	ENSP00000256646:P1421S	P	-	1	0	NOTCH2	120269701	0.929000	0.31497	0.964000	0.40570	0.849000	0.48306	2.954000	0.49113	2.706000	0.92434	0.561000	0.74099	CCT	NOTCH2	-	pirsf_Notch,smart_Notch_dom		0.627	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120468178	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.165	A	A	120468178	G	A	120468178	3	1	13	1	0	0	0	0	1	0	0	0	10572	1232	43	4	3194	4	NOTCH2	1	120468178	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4866670	120468178	128782443	52	1496										
NOTCH2	4853	genome.wustl.edu	37	chr1	120468354	120468354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggcagaagcagcggggtccaGaggcggtgtgcacacactgc	17	11	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:120468354G>C	ENST00000256646.2	-	25	4304	c.4085C>G	c.(4084-4086)tCt>tGt	p.S1362C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1362					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGTCCAGAGGCGGTGTG	0.637			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													27	24	25					1																	120468354		2202	4296	6498	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4085C>G	1.37:g.120468354G>C	ENSP00000256646:p.Ser1362Cys		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S1362C	ENST00000256646.2	37	c.4085	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246526	0.39697	.	.	ENSG00000134250	ENST00000256646	D	0.82526	-1.62	5.94	4.85	0.62838	.	0.662303	0.11774	U	0.530821	T	0.79701	0.4491	M	0.84683	2.71	0.09310	N	1	B	0.26876	0.162	B	0.32980	0.156	T	0.73585	-0.3936	10	0.54805	T	0.06	.	11.4455	0.50120	0.1505:0.0:0.8495:0.0	.	1362	Q04721	NOTC2_HUMAN	C	1362	ENSP00000256646:S1362C	ENSP00000256646:S1362C	S	-	2	0	NOTCH2	120269877	0.973000	0.33851	0.794000	0.32065	0.891000	0.51852	1.917000	0.39996	2.816000	0.96949	0.561000	0.74099	TCT	NOTCH2	-	pirsf_Notch,smart_EG-like_dom		0.637	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120468354	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.005	C	C	120468354	G	C	120468354	3	2	13	1	0	0	0	0	1	0	0	0	10572	942	33	1	3370	1	NOTCH2	1	120468354	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	176	120468354	128782267	53	1497										
FCGR1A	2209	genome.wustl.edu	37	chr1	149755775	149755775	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggtgccagagaggtctctCagggcgaagtgaccccatac	13	12	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:149755775C>G	ENST00000369168.4	+	3	323	c.269C>G	c.(268-270)tCa>tGa	p.S90*	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	90	Ig-like C2-type 1.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAGGTCTCTCAGGGCGAAGT	0.532																																																	0													8	10	9					1																	149755775		1690	3512	5202	SO:0001587	stop_gained	2209			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3613	protein-coding gene	gene with protein product		146760	"Fc fragment of IgG, high affinity Ia, receptor for (CD64)"			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.269C>G	1.37:g.149755775C>G	ENSP00000358165:p.Ser90*		P12315|Q5QNW7|Q92495|Q92663	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S90*	ENST00000369168.4	37	c.269	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110311	0.20714	.	.	ENSG00000150337	ENST00000369168	.	.	.	3.13	3.13	0.36017	.	0.000000	0.43110	D	0.000614	.	.	.	.	.	.	0.43300	D	0.99529	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.4383	0.44450	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000358165:S90X	S	+	2	0	FCGR1A	148022399	0.019000	0.18553	0.187000	0.23214	0.016000	0.09150	2.139000	0.42149	1.700000	0.51204	0.411000	0.27672	TCA	FCGR1A	-	smart_Ig_sub,smart_Ig_sub2		0.532	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	C	NM_000566		149755775	1	no_errors	ENST00000369168	ensembl	human	known	70_37	nonsense	SNP	0.186	G	G	149755775	C	G	149755775	4	3	13	1	0	0	0	0	0	1	0	0	5797	838	29	1	279	1	FCGR1A	1	149755775	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	29287421	149755775	99494846	54	1498										
RAB13	5872	genome.wustl.edu	37	chr1	153957217	153957217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagacttgtagtttgatcttCttcccctctatatccacagt	5	12	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:153957217C>G	ENST00000368575.3	-	2	280	c.165G>C	c.(163-165)aaG>aaC	p.K55N	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	55					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTTGATCTTCTTCCCCTCTA	0.443																																					Ovarian(138;395 2427 24306 43415)												0													153	130	138					1																	153957217		2203	4300	6503	SO:0001583	missense	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"RAB, member RAS oncogene"	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.165G>C	1.37:g.153957217C>G	ENSP00000357564:p.Lys55Asn		A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K55N	ENST00000368575.3	37	c.165	CCDS1058.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326090	0.81580	.	.	ENSG00000143545	ENST00000368575	T	0.78595	-1.19	5.16	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.52126	1.63	0.58432	D	0.999995	D;D	0.76494	0.977;0.999	P;D	0.77557	0.854;0.99	T	0.76984	-0.2756	10	0.87932	D	0	.	8.5094	0.33208	0.0:0.7295:0.0:0.2705	.	55;55	D3DV69;P51153	.;RAB13_HUMAN	N	55	ENSP00000357564:K55N	ENSP00000357564:K55N	K	-	3	2	RAB13	152223841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.897000	0.48664	0.289000	0.22422	-0.150000	0.13652	AAG	RAB13	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.443	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	C	NM_002870		153957217	-1	no_errors	ENST00000368575	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153957217	C	G	153957217	3	3	13	1	0	0	0	0	1	0	0	0	12929	912	32	1	474	1	RAB13	1	153957217	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4201442	153957217	95293404	55	1499										
AQP10	89872	genome.wustl.edu	37	chr1	154296280	154296280	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggctggggtcctgaagtcttCaggtgggagacagactctcc	15	10	3	3	rs144627448		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:154296280C>T	ENST00000324978.3	+	5	745	c.705C>T	c.(703-705)ttC>ttT	p.F235F	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Silent_p.F235F|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	235					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGAAGTCTTCAGGTGGGAGA	0.597																																																	0													33	33	33					1																	154296280		2203	4300	6503	SO:0001819	synonymous_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.705C>T	1.37:g.154296280C>T			Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.F235	ENST00000324978.3	37	c.705	CCDS1065.1	1																																																																																			AQP10	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.597	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	C	NM_080429		154296280	1	no_errors	ENST00000324978	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154296280	C	T	154296280	2	4	13	1	0	0	0	0	0	0	0	1	822	825	29	1		1	AQP10	1	154296280	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	339063	154296280	94954341	56	1500										
ADAR	103	genome.wustl.edu	37	chr1	154561847	154561847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctctgacctcgctcacctGatgaagcctctccgggagat	10	14	3	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:154561847G>A	ENST00000368474.4	-	9	2959	c.2760C>T	c.(2758-2760)atC>atT	p.I920I	ADAR_ENST00000368471.3_Silent_p.I625I|ADAR_ENST00000292205.5_Silent_p.I963I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	920	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCGCTCACCTGATGAAGCCTC	0.567																																																	0													83	73	76					1																	154561847		2203	4300	6503	SO:0001819	synonymous_variant	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2760C>T	1.37:g.154561847G>A			B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.I963	ENST00000368474.4	37	c.2889	CCDS1071.1	1																																																																																			ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.567	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	G	NM_001111		154561847	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154561847	G	A	154561847	2	1	13	1	0	0	0	0	0	0	0	1	281	1280	45	1		1	ADAR	1	154561847	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	265567	154561847	94688774	57	1501										
ADAM15	8751	genome.wustl.edu	37	chr1	155030771	155030771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agacaggtaggacccagcctCtgctgggctccatccgggat	13	13	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:155030771C>G	ENST00000356955.2	+	15	1872	c.1771C>G	c.(1771-1773)Ctg>Gtg	p.L591V	ADAM15_ENST00000368413.1_Missense_Mutation_p.L297V|ADAM15_ENST00000531455.1_Missense_Mutation_p.L601V|ADAM15_ENST00000359280.4_Missense_Mutation_p.L591V|ADAM15_ENST00000449910.2_Missense_Mutation_p.L591V|ADAM15_ENST00000360674.4_Missense_Mutation_p.L591V|ADAM15_ENST00000447332.3_Missense_Mutation_p.L575V|ADAM15_ENST00000271836.6_Missense_Mutation_p.L591V|ADAM15_ENST00000368410.2_Missense_Mutation_p.L297V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.L591V|ADAM15_ENST00000355956.2_Missense_Mutation_p.L591V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	591	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCCAGCCTCTGCTGGGCTC	0.597																																																	0													40	41	40					1																	155030771		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1771C>G	1.37:g.155030771C>G	ENSP00000349436:p.Leu591Val		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L591V	ENST00000356955.2	37	c.1771	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	3.143	-0.175861	0.06421	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.37	3.52	0.40303	ADAM, cysteine-rich (2);	0.000000	0.35235	N	0.003342	T	0.13970	0.0338	L	0.39245	1.2	0.40467	D	0.980301	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.998;0.997;1.0;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.955;0.999;0.957;0.999;0.999;0.999;0.967;0.999;0.999	T	0.22977	-1.0201	10	0.09338	T	0.73	.	4.6714	0.12691	0.1736:0.6507:0.0:0.1756	.	601;608;575;591;591;591;591;591;591;591;588	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	591;591;591;591;591;591;297;591;297;601	ENSP00000349436:L591V;ENSP00000403843:L591V;ENSP00000352226:L591V;ENSP00000353892:L591V;ENSP00000357397:L591V;ENSP00000348227:L591V;ENSP00000357395:L297V;ENSP00000271836:L591V;ENSP00000357398:L297V;ENSP00000432927:L601V	ENSP00000271836:L591V	L	+	1	2	ADAM15	153297395	1.000000	0.71417	0.995000	0.50966	0.164000	0.22412	2.709000	0.47160	0.855000	0.35359	0.650000	0.86243	CTG	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155030771	1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.997	G	G	155030771	C	G	155030771	3	3	13	1	0	0	0	0	1	0	0	0	237	912	32	1	1829	1	ADAM15	1	155030771	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	468924	155030771	94219850	58	1502										
ASH1L	55870	genome.wustl.edu	37	chr1	155451652	155451652	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcctagcttctttcctgaatCtttgcttagcagtcctactg	6	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:155451652C>G	ENST00000368346.3	-	3	1648	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Missense_Mutation_p.D337H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	337					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAATCTTTGCTTAGC	0.408																																																	0													191	192	192					1																	155451652		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1009G>C	1.37:g.155451652C>G	ENSP00000357330:p.Asp337His		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.D337H	ENST00000368346.3	37	c.1009		1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679247	0.29783	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90133	-2.62;-2.62	4.88	4.88	0.63580	.	0.271361	0.32134	N	0.006521	T	0.75451	0.3851	N	0.14661	0.345	0.80722	D	1	P;P	0.39883	0.567;0.693	B;B	0.37304	0.125;0.246	T	0.81883	-0.0728	10	0.87932	D	0	.	10.8616	0.46829	0.0:0.9119:0.0:0.0881	.	337;337	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	337	ENSP00000357330:D337H;ENSP00000376204:D337H	ENSP00000357330:D337H	D	-	1	0	ASH1L	153718276	0.987000	0.35691	1.000000	0.80357	0.824000	0.46624	3.059000	0.49947	2.697000	0.92050	0.563000	0.77884	GAT	ASH1L	-	NULL		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155451652	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155451652	C	G	155451652	3	3	13	1	0	0	0	0	1	0	0	0	1042	913	32	1	7989	1	ASH1L	1	155451652	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	420881	155451652	93798969	59	1503										
IQGAP3	128239	genome.wustl.edu	37	chr1	156539199	156539199	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctccagccggcacaggtactGataggcaacattctgccgcc	10	15	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:156539199G>A	ENST00000361170.2	-	2	104	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	32					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGGTACTGATAGGCAACA	0.552																																																	0													50	41	44					1																	156539199		2203	4300	6503	SO:0001587	stop_gained	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.94C>T	1.37:g.156539199G>A	ENSP00000354451:p.Gln32*		Q5T3H8	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.Q32*	ENST00000361170.2	37	c.94	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.360808	0.95877	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.97	4.05	0.47172	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1929	14.3289	0.66541	0.0:0.1492:0.8508:0.0	.	.	.	.	X	32	.	ENSP00000354451:Q32X	Q	-	1	0	IQGAP3	154805823	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.036000	0.41165	1.326000	0.45319	0.467000	0.42956	CAG	IQGAP3	-	superfamily_CH-domain		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	G	NM_178229		156539199	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	156539199	G	A	156539199	4	1	13	1	0	0	0	0	0	1	0	0	7836	1299	45	1	4949	1	IQGAP3	1	156539199	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1087547	156539199	92711422	60	1504										
BCAN	63827	genome.wustl.edu	37	chr1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggggtcgtctttctctaccGagagggctctgcccgctatg	13	12	3	1	rs372404921		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:156617318G>A	ENST00000329117.5	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTCTACCGAGAGGGCTCT	0.652																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	46	48	48		485,485	4.3	1	1		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAN	NM_021948.4,NM_198427.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/912,162/672	156617318	1,13005	2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.485G>A	1.37:g.156617318G>A	ENSP00000331210:p.Arg162Gln		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.R162Q	ENST00000329117.5	37	c.485	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.186459	0.94885	0.0	1.16E-4	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.26	4.26	0.50523	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000060	T	0.16727	0.0402	L	0.39898	1.24	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.01648	-1.1304	10	0.87932	D	0	-13.6486	15.4026	0.74852	0.0:0.0:1.0:0.0	.	162;162	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	162;162;60;162	ENSP00000331210:R162Q;ENSP00000389898:R162Q;ENSP00000401709:R60Q;ENSP00000354925:R162Q	ENSP00000331210:R162Q	R	+	2	0	BCAN	154883942	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.555000	0.98123	2.187000	0.69744	0.442000	0.29010	CGA	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	G	NM_021948		156617318	1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156617318	G	A	156617318	3	1	13	1	0	0	0	0	1	0	0	0	1346	1058	37	1	495	1	BCAN	1	156617318	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	78119	156617318	92633303	61	1505										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156909391	156909391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctctgtgcttgaagcatcttCagccagattcctgtccagtt	8	12	3	2	rs568941052		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:156909391C>T	ENST00000361409.2	-	36	4667	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E1349K|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E725K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1309					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGCATCTTCAGCCAGATTC	0.498													C|||	1	0.000199681	0	0	5008	,	,		22000	0		0	False		,,,				2504	0.001																0													79	84	83					1																	156909391		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3925G>A	1.37:g.156909391C>T	ENSP00000354644:p.Glu1309Lys		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E1349K	ENST00000361409.2	37	c.4045	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966528	0.34659	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69561	-0.4;-0.41;-0.33	4.55	3.63	0.41609	.	0.682311	0.12832	N	0.435560	T	0.45776	0.1359	L	0.32530	0.975	0.09310	N	1	P;P;P	0.47350	0.894;0.732;0.825	P;B;P	0.46718	0.525;0.254;0.461	T	0.29579	-1.0007	10	0.51188	T	0.08	-0.6458	11.1517	0.48462	0.0:0.6386:0.3614:0.0	.	725;1309;1349	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	K	1349;1309;725	ENSP00000357177:E1349K;ENSP00000354644:E1309K;ENSP00000313470:E725K	ENSP00000313470:E725K	E	-	1	0	ARHGEF11	155176015	0.885000	0.30320	0.067000	0.19924	0.650000	0.38633	3.753000	0.55180	1.095000	0.41419	-0.304000	0.09214	GAA	ARHGEF11	-	NULL		0.498	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156909391	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	0.121	T	T	156909391	C	T	156909391	3	4	13	1	0	0	0	0	1	0	0	0	896	835	29	1	663	1	ARHGEF11	1	156909391	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	292073	156909391	92341230	62	1506										
OR10X1	128367	genome.wustl.edu	37	chr1	158549459	158549459	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaggagagtgcactaaggaaGagatacataggggtgtggag	17	3	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:158549459G>C	ENST00000368150.1	-	1	230	c.231C>G	c.(229-231)ctC>ctG	p.L77L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CACTAAGGAAGAGATACATAG	0.493																																																	0													124	116	119					1																	158549459		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.231C>G	1.37:g.158549459G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L77	ENST00000368150.1	37	c.231	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549459	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.832	C	C	158549459	G	C	158549459	2	2	13	1	0	0	0	0	0	0	0	1	10946	929	33	1		1	OR10X1	1	158549459	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1640068	158549459	90701162	63	1507			1	6		3	3	201	G		1.583937e-05
OR10X1	128367	genome.wustl.edu	37	chr1	158549540	158549540	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctgcaagggtgagaaggtaGagacaaaagaagaccacaaa	12	7	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:158549540G>C	ENST00000368150.1	-	1	149	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAGAAGGTAGAGACAAAAGA	0.448																																																	0													127	126	126					1																	158549540		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.150C>G	1.37:g.158549540G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L50	ENST00000368150.1	37	c.150	CCDS30900.1	1																																																																																			OR10X1	-	prints_GPCR_Rhodpsn		0.448	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549540	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.995	C	C	158549540	G	C	158549540	2	2	13	1	0	0	0	0	0	0	0	1	10946	929	33	1		1	OR10X1	1	158549540	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	81	158549540	90701081	64	1508			1	6		3	3	201	G		1.583937e-05
OR10X1	128367	genome.wustl.edu	37	chr1	158549659	158549659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtttgaatgtctgaaatttGaaagaaacaacaataaacat	6	5	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:158549659G>C	ENST00000368150.1	-	1	30	c.31C>G	c.(31-33)Caa>Gaa	p.Q11E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTGAAATTTGAAAGAAACAA	0.323																																																	0													93	93	93					1																	158549659		2203	4300	6503	SO:0001583	missense	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.31C>G	1.37:g.158549659G>C	ENSP00000357132:p.Gln11Glu		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q11E	ENST00000368150.1	37	c.31	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	G	7.336	0.619970	0.14193	.	.	ENSG00000186400	ENST00000368150	T	0.00001	9.88	4.72	-0.0264	0.13930	.	3.942700	0.01037	N	0.004250	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.28530	T	0.3	.	5.4533	0.16576	0.3815:0.1399:0.4786:0.0	.	11	Q8NGY0	O10X1_HUMAN	E	11	ENSP00000357132:Q11E	ENSP00000357132:Q11E	Q	-	1	0	OR10X1	156816283	0.000000	0.05858	0.009000	0.14445	0.121000	0.20230	-1.010000	0.03656	0.071000	0.16664	-0.355000	0.07637	CAA	OR10X1	-	NULL		0.323	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549659	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	missense	SNP	0.002	C	C	158549659	G	C	158549659	3	2	13	1	0	0	0	0	1	0	0	0	10946	1299	45	1	944	1	OR10X1	1	158549659	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	119	158549659	90700962	65	1509			1	6		3	3	201	G		1.583937e-05
TAGLN2	8407	genome.wustl.edu	37	chr1	159889069	159889069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccagcaatacttacttaggGaaccagttgggatccccaga	9	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:159889069G>A	ENST00000368097.4	-	4	763	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Silent_p.F151F|TAGLN2_ENST00000368096.1_Silent_p.F172F	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	151					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTACTTAGGGAACCAGTTGG	0.552																																																	0													68	68	68					1																	159889069		2203	4300	6503	SO:0001819	synonymous_variant	8407			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"SM22-alpha homolog"	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.453C>T	1.37:g.159889069G>A			E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Silent	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.F172	ENST00000368097.4	37	c.516	CCDS1189.1	1																																																																																			TAGLN2	-	superfamily_CH-domain		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	HGNC	protein_coding	OTTHUMT00000059105.1	G	NM_003564		159889069	-1	no_errors	ENST00000368096	ensembl	human	known	70_37	silent	SNP	1.000	A	A	159889069	G	A	159889069	2	1	13	1	0	0	0	0	0	0	0	1	15569	1165	41	1		1	TAGLN2	1	159889069	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1339410	159889069	89361552	66	1510										
ADAMTS4	9507	genome.wustl.edu	37	chr1	161165346	161165346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgagccatcacaggggccatGacatggcgagaggtgctcaa	14	10	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:161165346G>A	ENST00000367996.5	-	4	1598	c.1170C>T	c.(1168-1170)gtC>gtT	p.V390V	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	390	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGGGGCCATGACATGGCGAG	0.552																																																	0													184	156	165					1																	161165346		2203	4300	6503	SO:0001819	synonymous_variant	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1170C>T	1.37:g.161165346G>A			Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V390	ENST00000367996.5	37	c.1170	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.552	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	G	NM_005099		161165346	-1	no_errors	ENST00000367996	ensembl	human	known	70_37	silent	SNP	1.000	A	A	161165346	G	A	161165346	2	1	13	1	0	0	0	0	0	0	0	1	268	1277	45	1		1	ADAMTS4	1	161165346	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1276277	161165346	88085275	67	1511										
FCGR2A	2212	genome.wustl.edu	37	chr1	161479734	161479734	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttccagaatggaaaatcccaGaaattctcccatttggatcc	6	11	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:161479734G>C	ENST00000271450.6	+	4	527	c.489G>C	c.(487-489)caG>caC	p.Q163H	FCGR2A_ENST00000367972.4_Missense_Mutation_p.Q162H	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	163	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAAATCCCAGAAATTCTCCC	0.502																																																	0													126	116	119					1																	161479734		2203	4300	6503	SO:0001583	missense	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.489G>C	1.37:g.161479734G>C	ENSP00000271450:p.Gln163His		Q8WUN1|Q8WW64	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q163H	ENST00000271450.6	37	c.489	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	.	8.876	0.950561	0.18431	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12879	2.64;2.64	2.65	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.117680	0.02196	N	0.061857	T	0.04182	0.0116	N	0.24115	0.695	0.21878	N	0.999496	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21930	-1.0231	9	0.48119	T	0.1	.	8.953	0.35801	0.0:0.0:1.0:0.0	.	163;162	P12318;P12318-2	FCG2A_HUMAN;.	H	162;163	ENSP00000356949:Q162H;ENSP00000271450:Q163H	ENSP00000271450:Q163H	Q	+	3	2	FCGR2A	159746358	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	-0.021000	0.12504	1.777000	0.52277	0.555000	0.69702	CAG	FCGR2A	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	G	NM_021642		161479734	1	no_errors	ENST00000271450	ensembl	human	known	70_37	missense	SNP	0.005	C	C	161479734	G	C	161479734	3	2	13	1	0	0	0	0	1	0	0	0	5799	933	33	1	503	1	FCGR2A	1	161479734	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	314388	161479734	87770887	68	1512										
DDR2	4921	genome.wustl.edu	37	chr1	162725511	162725511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtttgtactccctggaggttCcatcatttatctgaatgatt	8	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:162725511C>A	ENST00000367922.3	+	8	1061	c.623C>A	c.(622-624)tCc>tAc	p.S208Y	DDR2_ENST00000367921.3_Missense_Mutation_p.S208Y	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	208					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CCTGGAGGTTCCATCATTTAT	0.453																																					NSCLC(161;314 2006 8283 19651 23192)												0													172	165	168					1																	162725511		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.623C>A	1.37:g.162725511C>A	ENSP00000356899:p.Ser208Tyr		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S208Y	ENST00000367922.3	37	c.623	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522867	0.44866	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.26957	1.7;1.7	5.81	5.81	0.92471	.	0.305702	0.37669	N	0.001997	T	0.10852	0.0265	L	0.29908	0.895	0.30020	N	0.814432	B	0.02656	0.0	B	0.04013	0.001	T	0.04723	-1.0931	9	0.59425	D	0.04	.	13.6017	0.62024	0.1552:0.8448:0.0:0.0	.	208	Q16832	DDR2_HUMAN	Y	208	ENSP00000356899:S208Y;ENSP00000356898:S208Y	ENSP00000356898:S208Y	S	+	2	0	DDR2	160992135	0.015000	0.18098	0.999000	0.59377	0.988000	0.76386	1.502000	0.35704	2.741000	0.93983	0.650000	0.86243	TCC	DDR2	-	NULL		0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162725511	1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	0.964	A	A	162725511	C	A	162725511	3	1	13	1	0	0	0	0	1	0	0	0	4342	855	30	3	641	3	DDR2	1	162725511	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1245777	162725511	86525110	69	1513										
BAT2L2	23215	genome.wustl.edu	37	chr1	171526764	171526764	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttcttcagctccagcctCagccccagctccaaccccca	4	22	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:171526764C>G	ENST00000338920.4	+	19	5744	c.5507C>G	c.(5506-5508)tCa>tGa	p.S1836*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.S1836*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.S1838*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.S1838*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1836	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										gctccagcctcagccccagct	0.547																																																	0													108	107	108					1																	171526764		1721	3146	4867	SO:0001587	stop_gained	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.5507C>G	1.37:g.171526764C>G	ENSP00000343629:p.Ser1836*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.S1838*	ENST00000338920.4	37	c.5513	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.760201|12.760201	0.99694|0.99694	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|.	.|.	.|.	3.02|3.02	2.1|2.1	0.27182|0.27182	.|.	.|.	.|.	.|.	.|.	T|.	0.32941|.	0.0846|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23655|.	-1.0182|.	3|.	.|0.72032	.|D	.|0.01	.|.	6.284|6.284	0.21023|0.21023	0.0:0.8599:0.0:0.1401|0.0:0.8599:0.0:0.1401	.|.	.|.	.|.	.|.	E|X	384|1838;1790;1836;1838;1836;1593	.|.	.|ENSP00000343629:S1836X	Q|S	+|+	1|2	0|0	PRRC2C|PRRC2C	169793388|169793388	0.003000|0.003000	0.15002|0.15002	0.025000|0.025000	0.17156|0.17156	0.834000|0.834000	0.47266|0.47266	1.958000|1.958000	0.40402|0.40402	0.828000|0.828000	0.34709|0.34709	-0.310000|-0.310000	0.09108|0.09108	CAG|TCA	PRRC2C	-	NULL		0.547	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	C	NM_015172		171526764	1	no_errors	ENST00000392078	ensembl	human	known	70_37	nonsense	SNP	0.032	G	G	171526764	C	G	171526764	4	3	13	1	0	0	0	0	0	1	0	0	1322	838	29	1	5577	1	BAT2L2	1	171526764	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8801253	171526764	77723857	70	1514										
SLC9A11	284525	genome.wustl.edu	37	chr1	173517641	173517641	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tactatctcctgtatgtgctGagtggcattttgcaagatca	9	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:173517641G>A	ENST00000367714.3	-	12	1770	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.Q348*	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	450					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TGTATGTGCTGAGTGGCATTT	0.363																																																	0													129	121	123					1																	173517641		2203	4300	6503	SO:0001587	stop_gained	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1348C>T	1.37:g.173517641G>A	ENSP00000356687:p.Gln450*		Q86UF3	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q450*	ENST00000367714.3	37	c.1348	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.114353	0.97296	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	4.53	-0.162	0.13367	.	1.092550	0.07056	N	0.832859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.9626	7.0212	0.24914	0.0:0.4347:0.3425:0.2228	.	.	.	.	X	450;348	.	ENSP00000356687:Q450X	Q	-	1	0	SLC9A11	171784264	0.772000	0.28567	0.863000	0.33907	0.349000	0.29174	0.086000	0.14935	-0.255000	0.09486	0.404000	0.27445	CAG	SLC9C2	-	NULL		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	G	NM_178527		173517641	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	nonsense	SNP	0.844	A	A	173517641	G	A	173517641	4	1	13	1	0	0	0	0	0	1	0	0	14741	1299	45	1	2094	1	SLC9A11	1	173517641	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1990877	173517641	75732980	71	1515										
TEDDM1	127670	genome.wustl.edu	37	chr1	182369123	182369123	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgcatcagccaggagcccatCatcagaatcagaaaggtctc	9	12	5	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:182369123C>T	ENST00000367565.1	-	1	628	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	166						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGGAGCCCATCATCAGAATCA	0.517																																																	0													73	75	74					1																	182369123		2203	4300	6503	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.498G>A	1.37:g.182369123C>T	ENSP00000356536:p.Met166Ile		Q8IVJ0	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.M166I	ENST00000367565.1	37	c.498	CCDS30953.1	1	.	.	.	.	.	.	.	.	.	.	c	6.544	0.468551	0.12461	.	.	ENSG00000203730	ENST00000367565	T	0.40756	1.02	4.92	-4.14	0.03892	.	1.343820	0.04646	N	0.406104	T	0.32645	0.0836	L	0.39898	1.24	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.24870	-1.0148	10	0.28530	T	0.3	-10.9514	9.9629	0.41708	0.1082:0.1774:0.639:0.0754	.	166	Q5T9Z0	TEDM1_HUMAN	I	166	ENSP00000356536:M166I	ENSP00000356536:M166I	M	-	3	0	TEDDM1	180635746	0.209000	0.23505	0.004000	0.12327	0.519000	0.34347	-0.565000	0.05929	-1.080000	0.03109	-0.215000	0.12644	ATG	TEDDM1	-	pfam_DUF716_TMEM45		0.517	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEDDM1	HGNC	protein_coding	OTTHUMT00000091029.1	C	NM_172000		182369123	-1	no_errors	ENST00000367565	ensembl	human	known	70_37	missense	SNP	0.002	T	T	182369123	C	T	182369123	3	4	13	1	0	0	0	0	1	0	0	0	15779	826	29	1	327	1	TEDDM1	1	182369123	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8851482	182369123	66881498	72	1516										
HMCN1	83872	genome.wustl.edu	37	chr1	186141187	186141187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agaccagatcagcactgtaaGaacacccgtggtggctataa	10	10	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:186141187G>A	ENST00000271588.4	+	102	15967	c.15738G>A	c.(15736-15738)aaG>aaA	p.K5246K	HMCN1_ENST00000367492.2_Silent_p.K5246K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5246	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACTGTAAGAACACCCGTG	0.388																																																	0													146	134	138					1																	186141187		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15738G>A	1.37:g.186141187G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K5246	ENST00000271588.4	37	c.15738	CCDS30956.1	1																																																																																			HMCN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186141187	1	no_errors	ENST00000271588	ensembl	human	known	70_37	silent	SNP	1.000	A	A	186141187	G	A	186141187	2	1	13	1	0	0	0	0	0	0	0	1	7240	933	33	1		1	HMCN1	1	186141187	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3772064	186141187	63109434	73	1517										
TPR	7175	genome.wustl.edu	37	chr1	186296657	186296657	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actgtcaattacaatgacatCatctcctttgccttgaccat	4	12	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:186296657C>A	ENST00000367478.4	-	40	6120	c.5824G>T	c.(5824-5826)Gat>Tat	p.D1942Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1942					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACAATGACATCATCTCCTTTG	0.388			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													139	140	140					1																	186296657		2050	4198	6248	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5824G>T	1.37:g.186296657C>A	ENSP00000356448:p.Asp1942Tyr		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.D1942Y	ENST00000367478.4	37	c.5824	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015173	0.75161	.	.	ENSG00000047410	ENST00000367478	T	0.27890	1.64	5.26	5.26	0.73747	.	0.099666	0.64402	D	0.000002	T	0.53965	0.1829	M	0.61703	1.905	0.54753	D	0.999986	D	0.76494	0.999	D	0.77557	0.99	T	0.55698	-0.8100	10	0.66056	D	0.02	.	17.0596	0.86543	0.0:1.0:0.0:0.0	.	1942	P12270	TPR_HUMAN	Y	1942	ENSP00000356448:D1942Y	ENSP00000356448:D1942Y	D	-	1	0	TPR	184563280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.929000	0.63455	2.451000	0.82905	0.650000	0.86243	GAT	TPR	-	NULL		0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186296657	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186296657	C	A	186296657	3	1	13	1	0	0	0	0	1	0	0	0	16447	826	29	3	1315	3	TPR	1	186296657	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	155470	186296657	62953964	74	1518										
TROVE2	6738	genome.wustl.edu	37	chr1	193053855	193053855	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgaaatttcacattagatatGatttaaccataagcagcagc	6	8	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:193053855G>C	ENST00000367446.3	+	9	1821	c.1611G>C	c.(1609-1611)atG>atC	p.M537I	TROVE2_ENST00000432079.1_Missense_Mutation_p.M262I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000416058.2_Missense_Mutation_p.M262I|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.M537I|TROVE2_ENST00000400968.2_Missense_Mutation_p.M537I|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367445.3_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	537	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CATTAGATATGATTTAACCAT	0.418																																																	0													147	135	139					1																	193053855		1908	4135	6043	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1611G>C	1.37:g.193053855G>C	ENSP00000356416:p.Met537Ile		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	pfam_TROVE,pfscan_TROVE	p.M537I	ENST00000367446.3	37	c.1611	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	G	0.610	-0.825534	0.02734	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367441	.	.	.	5.22	3.31	0.37934	.	0.399466	0.24657	N	0.036674	T	0.13841	0.0335	N	0.02011	-0.69	0.24560	N	0.993975	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	9	0.30854	T	0.27	-1.2947	8.9964	0.36055	0.0764:0.2922:0.6314:0.0	.	537	P10155	RO60_HUMAN	I	537;262;537;537	.	ENSP00000356411:M537I	M	+	3	0	TROVE2	191320478	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.141000	0.31528	0.542000	0.28846	0.460000	0.39030	ATG	TROVE2	-	NULL		0.418	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	G	NM_004600		193053855	1	no_errors	ENST00000367441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	193053855	G	C	193053855	3	2	13	1	0	0	0	0	1	0	0	0	16607	1290	45	1	1641	1	TROVE2	1	193053855	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6757198	193053855	56196766	75	1519										
CFH	3075	genome.wustl.edu	37	chr1	196695683	196695683	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagaagaatatggacacagtGaagtggtggaatattattgc	12	3	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:196695683G>A	ENST00000367429.4	+	13	2197	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	653	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGACACAGTGAAGTGGTGGA	0.373																																																	0													105	110	108					1																	196695683		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1957G>A	1.37:g.196695683G>A	ENSP00000356399:p.Glu653Lys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E653K	ENST00000367429.4	37	c.1957	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408597	0.83340	.	.	ENSG00000000971	ENST00000367429	T	0.67345	-0.26	5.32	5.32	0.75619	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76219	0.3957	M	0.79258	2.445	0.31977	N	0.606339	D	0.56521	0.976	P	0.59357	0.856	T	0.76342	-0.2994	9	0.22109	T	0.4	.	10.1382	0.42719	0.0918:0.0:0.9082:0.0	.	653	P08603	CFAH_HUMAN	K	653	ENSP00000356399:E653K	ENSP00000356399:E653K	E	+	1	0	CFH	194962306	0.016000	0.18221	0.019000	0.16419	0.584000	0.36387	0.705000	0.25675	2.495000	0.84180	0.460000	0.39030	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196695683	1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.045	A	A	196695683	G	A	196695683	3	1	13	1	0	0	0	0	1	0	0	0	3288	1291	45	1	2025	1	CFH	1	196695683	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3641828	196695683	52554938	76	1520										
DENND1B	163486	genome.wustl.edu	37	chr1	197552366	197552366	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttacaaaactctcctcacaGaaagtgatgggctcacccta	6	12	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:197552366G>C	ENST00000367396.3	-	15	1234	c.1065C>G	c.(1063-1065)ttC>ttG	p.F355L	DENND1B_ENST00000235453.4_Missense_Mutation_p.F325L|DENND1B_ENST00000400967.2_Missense_Mutation_p.F325L	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	355	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TCTCCTCACAGAAAGTGATGG	0.413																																																	0													75	72	73					1																	197552366		1852	4112	5964	SO:0001583	missense	163486			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1065C>G	1.37:g.197552366G>C	ENSP00000356366:p.Phe355Leu		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.F355L	ENST00000367396.3	37	c.1065	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498307	0.85069	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.76186	-1.0;-1.0;-1.0	6.02	3.15	0.36227	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85630	2.765	0.54753	D	0.99998	D;P;D	0.76494	0.999;0.913;0.98	D;P;P	0.75020	0.985;0.818;0.815	D	0.85761	0.1349	9	.	.	.	-23.2777	10.9674	0.47421	0.2089:0.0:0.7911:0.0	.	355;355;325	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	L	355;335;325;355;325	ENSP00000235453:F325L;ENSP00000356366:F355L;ENSP00000383751:F325L	.	F	-	3	2	DENND1B	195818989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.607000	0.46300	0.900000	0.36469	0.655000	0.94253	TTC	DENND1B	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.413	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	G	NM_144977		197552366	-1	no_errors	ENST00000367396	ensembl	human	known	70_37	missense	SNP	1.000	C	C	197552366	G	C	197552366	3	2	13	1	0	0	0	0	1	0	0	0	4437	933	33	1	1339	1	DENND1B	1	197552366	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	856683	197552366	51698255	77	1521										
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200784767	200784767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagttgaagctccaggaggtCaaaaggtatttatttcaaaa	9	6	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:200784767C>G	ENST00000236925.4	+	4	689	c.640C>G	c.(640-642)Caa>Gaa	p.Q214E	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.Q214E|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Q214E			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	214	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCCAGGAGGTCAAAAGGTATT	0.274																																																	0													41	45	44					1																	200784767		2202	4290	6492	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.640C>G	1.37:g.200784767C>G	ENSP00000236925:p.Gln214Glu		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.Q214E	ENST00000236925.4	37	c.640		1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112186	0.56398	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.15718	2.46;2.47;2.4	5.39	5.39	0.77823	Calponin homology domain (2);	0.224065	0.41605	D	0.000853	T	0.20536	0.0494	L	0.35854	1.095	0.50171	D	0.999859	P;B;B	0.41450	0.75;0.425;0.372	B;B;B	0.42827	0.399;0.136;0.083	T	0.00726	-1.1592	10	0.41790	T	0.15	-25.9341	19.5078	0.95127	0.0:1.0:0.0:0.0	.	214;214;214	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	E	214	ENSP00000351684:Q214E;ENSP00000416800:Q214E;ENSP00000236925:Q214E	ENSP00000236925:Q214E	Q	+	1	0	CAMSAP1L1	199051390	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.381000	0.73163	2.676000	0.91093	0.655000	0.94253	CAA	CAMSAP2	-	pfam_CH-domain,superfamily_CH-domain		0.274	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200784767	1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	G	G	200784767	C	G	200784767	3	3	13	1	0	0	0	0	1	0	0	0	2617	827	29	1	654	1	CAMSAP1L1	1	200784767	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3232401	200784767	48465854	78	1522										
IGFN1	91156	genome.wustl.edu	37	chr1	201195081	201195081	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgcggtgttcacacgctcctCagcgcacggtccctggcacg	12	17	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201195081C>T	ENST00000335211.4	+	22	10746	c.10616C>T	c.(10615-10617)tCa>tTa	p.S3539L	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1082						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACACGCTCCTCAGCGCACGGT	0.667																																																	0													78	62	68					1																	201195081		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10616C>T	1.37:g.201195081C>T	ENSP00000334714:p.Ser3539Leu		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S3539L	ENST00000335211.4	37	c.10616	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817146	0.32145	.	.	ENSG00000163395	ENST00000335211	T	0.56941	0.43	5.0	4.1	0.47936	.	0.291488	0.34178	N	0.004190	T	0.51652	0.1687	L	0.39898	1.24	0.80722	D	1	P	0.41546	0.754	P	0.47673	0.554	T	0.55347	-0.8155	10	0.66056	D	0.02	.	11.8407	0.52353	0.0:0.9191:0.0:0.0809	.	3539	F8WAI1	.	L	3539	ENSP00000334714:S3539L	ENSP00000334714:S3539L	S	+	2	0	IGFN1	199461704	0.999000	0.42202	0.506000	0.27664	0.031000	0.12232	4.195000	0.58400	1.350000	0.45770	0.561000	0.74099	TCA	IGFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201195081	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.998	T	T	201195081	C	T	201195081	3	4	13	1	0	0	0	0	1	0	0	0	7610	838	29	1	10698	1	IGFN1	1	201195081	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	410314	201195081	48055540	79	1523										
PHLDA3	23612	genome.wustl.edu	37	chr1	201437540	201437540	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgcccggtggtttaggacacGagggtcccggtcccgaggct	16	13	0	0	rs201117567		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201437540G>C	ENST00000367311.3	-	1	772	c.375C>G	c.(373-375)ctC>ctG	p.L125L	PHLDA3_ENST00000367309.1_Silent_p.L125L|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	125	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TTTAGGACACGAGGGTCCCGG	0.647																																																	0													54	62	59					1																	201437540		2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"pleckstrin homology-like domain, family A, member 2"	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.375C>G	1.37:g.201437540G>C			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.L125	ENST00000367311.3	37	c.375	CCDS1412.1	1																																																																																			PHLDA3	-	NULL		0.647	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437540	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	0.805	C	C	201437540	G	C	201437540	2	2	13	1	0	0	0	0	0	0	0	1	11874	1045	37	1		1	PHLDA3	1	201437540	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	242459	201437540	47813081	80	1524										
ELF3	1999	genome.wustl.edu	37	chr1	201984418	201984418	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggcaaaaactcaagcggctgGaaggaggaagaggttctcca	14	8	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201984418G>A	ENST00000359651.3	+	8	4275	c.1083G>A	c.(1081-1083)tgG>tgA	p.W361*	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W361*|ELF3_ENST00000367283.3_Nonsense_Mutation_p.W361*					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAAGCGGCTGGAAGGAGGAAG	0.557																																																	0													73	73	73					1																	201984418		2203	4300	6503	SO:0001587	stop_gained	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1083G>A	1.37:g.201984418G>A	ENSP00000352673:p.Trp361*			Nonsense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.W361*	ENST00000359651.3	37	c.1083	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.940774	0.97952	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	.	.	.	4.61	4.61	0.57282	.	0.255230	0.34291	N	0.004082	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4352	0.83873	0.0:0.0:1.0:0.0	.	.	.	.	X	361;361;361;338	.	ENSP00000311348:W338X	W	+	3	0	ELF3	200251041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.726000	0.84824	2.421000	0.82119	0.555000	0.69702	TGG	ELF3	-	NULL		0.557	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201984418	1	no_errors	ENST00000359651	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	201984418	G	A	201984418	4	1	13	1	0	0	0	0	0	1	0	0	5067	1183	41	1	1113	1	ELF3	1	201984418	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	546878	201984418	47266203	81	1525										
MYBPH	4608	genome.wustl.edu	37	chr1	203144510	203144510	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggcccagcctccccagcctCtctgggggctcccagctcac	10	20	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:203144510C>G	ENST00000255416.4	-	2	342	c.285G>C	c.(283-285)gaG>gaC	p.E95D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	95	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E95E(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCCCCAGCCTCTCTGGGGGCT	0.612																																					NSCLC(32;174 1025 14462 23899 42933)												1	Substitution - coding silent(1)	skin(1)											64	79	74					1																	203144510		2203	4300	6503	SO:0001583	missense	4608			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.285G>C	1.37:g.203144510C>G	ENSP00000255416:p.Glu95Asp		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E95D	ENST00000255416.4	37	c.285	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947484	0.53186	.	.	ENSG00000133055	ENST00000255416	T	0.57907	0.37	5.51	2.11	0.27256	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.125201	0.35870	N	0.002936	T	0.49098	0.1537	L	0.50993	1.605	0.25927	N	0.983047	P	0.38863	0.65	P	0.47015	0.534	T	0.32428	-0.9907	10	0.23302	T	0.38	.	7.6046	0.28095	0.0:0.6771:0.1444:0.1785	.	95	Q13203	MYBPH_HUMAN	D	95	ENSP00000255416:E95D	ENSP00000255416:E95D	E	-	3	2	MYBPH	201411133	0.163000	0.22920	0.673000	0.29887	0.968000	0.65278	0.248000	0.18198	0.675000	0.31264	0.655000	0.94253	GAG	MYBPH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.612	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	C	NM_004997		203144510	-1	no_errors	ENST00000255416	ensembl	human	known	70_37	missense	SNP	0.450	G	G	203144510	C	G	203144510	3	3	13	1	0	0	0	0	1	0	0	0	10037	912	32	1	1184	1	MYBPH	1	203144510	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1160092	203144510	46106111	82	1526										
CHI3L1	1116	genome.wustl.edu	37	chr1	203150299	203150299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggaactcacagtgttgctGaatctgtcaggacttgcatc	11	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:203150299G>C	ENST00000255409.3	-	7	827	c.702C>G	c.(700-702)ttC>ttG	p.F234L		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	234					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAGTGTTGCTGAATCTGTCAG	0.572																																																	0													133	115	121					1																	203150299		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.702C>G	1.37:g.203150299G>C	ENSP00000255409:p.Phe234Leu		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.F234L	ENST00000255409.3	37	c.702	CCDS1435.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.45|13.45	2.242047|2.242047	0.39598|0.39598	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.05199|.	3.48|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.545498|.	0.18143|.	N|.	0.150321|.	T|T	0.43700|0.43700	0.1259|0.1259	N|N	0.13043|0.13043	0.29|0.29	0.35261|0.35261	D|D	0.77961|0.77961	P;P|.	0.52316|.	0.952;0.659|.	B;B|.	0.43916|.	0.436;0.209|.	T|T	0.51834|0.51834	-0.8655|-0.8655	10|5	0.38643|.	T|.	0.18|.	-16.1691|-16.1691	16.1019|16.1019	0.81178|0.81178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	31;234|.	B3KTE6;P36222|.	.;CH3L1_HUMAN|.	L|E	234|64	ENSP00000255409:F234L|.	ENSP00000255409:F234L|.	F|Q	-|-	3|1	2|0	CHI3L1|CHI3L1	201416922|201416922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.490000|0.490000	0.33462|0.33462	4.598000|4.598000	0.61069|0.61069	2.471000|2.471000	0.83476|0.83476	0.655000|0.655000	0.94253|0.94253	TTC|CAG	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.572	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	G	NM_001276		203150299	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	1.000	C	C	203150299	G	C	203150299	3	2	13	1	0	0	0	0	1	0	0	0	3345	1281	45	1	465	1	CHI3L1	1	203150299	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5789	203150299	46100322	83	1527										
C1orf74	148304	genome.wustl.edu	37	chr1	209956597	209956597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtcctgaagctggtccaggGagcagacagaagggtgacgc	16	9	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:209956597G>A	ENST00000294811.1	-	2	639	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	128										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CTGGTCCAGGGAGCAGACAGA	0.552																																																	0													58	54	55					1																	209956597		2203	4300	6503	SO:0001583	missense	148304			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.383C>T	1.37:g.209956597G>A	ENSP00000294811:p.Ser128Phe			Missense_Mutation	SNP	NULL	p.S128F	ENST00000294811.1	37	c.383	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	G	7.183	0.589937	0.13812	.	.	ENSG00000162757	ENST00000294811	T	0.49432	0.78	5.61	4.7	0.59300	.	0.561994	0.18299	N	0.145473	T	0.41073	0.1143	L	0.60455	1.87	0.09310	N	0.999994	B	0.12630	0.006	B	0.14023	0.01	T	0.31668	-0.9935	10	0.37606	T	0.19	-3.1143	6.5344	0.22344	0.0731:0.1284:0.6661:0.1324	.	128	Q96LT6	CA074_HUMAN	F	128	ENSP00000294811:S128F	ENSP00000294811:S128F	S	-	2	0	C1orf74	208023220	0.001000	0.12720	0.746000	0.31095	0.406000	0.30931	0.183000	0.16919	1.390000	0.46547	0.655000	0.94253	TCC	C1orf74	-	NULL		0.552	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	HGNC	protein_coding	OTTHUMT00000088745.1	G	NM_152485		209956597	-1	no_errors	ENST00000294811	ensembl	human	known	70_37	missense	SNP	0.106	A	A	209956597	G	A	209956597	3	1	13	1	0	0	0	0	1	0	0	0	2063	1174	41	1	430	1	C1orf74	1	209956597	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6806298	209956597	39294024	84	1528										
ESRRG	2104	genome.wustl.edu	37	chr1	216896629	216896629	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agattcaggaaggcaaagttCtaccgaatccatgtgcgacc	10	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:216896629C>G	ENST00000408911.3	-	1	166	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000366937.1_5'UTR|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000391890.3_5'UTR|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000359162.2_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	5					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGGCAAAGTTCTACCGAATCC	0.473																																																	0													110	109	109					1																	216896629		1893	4116	6009	SO:0001583	missense	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.13G>C	1.37:g.216896629C>G	ENSP00000386171:p.Glu5Gln		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E5Q	ENST00000408911.3	37	c.13	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451079	0.63290	.	.	ENSG00000196482	ENST00000408911	D	0.93189	-3.18	5.56	5.56	0.83823	.	1.097060	0.07119	U	0.843582	D	0.91209	0.7230	L	0.27053	0.805	0.80722	D	1	B	0.21452	0.056	B	0.23018	0.043	T	0.76369	-0.2984	10	0.62326	D	0.03	.	19.1202	0.93360	0.0:1.0:0.0:0.0	.	5	P62508	ERR3_HUMAN	Q	5	ENSP00000386171:E5Q	ENSP00000386171:E5Q	E	-	1	0	ESRRG	214963252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.080000	0.76837	2.615000	0.88500	0.591000	0.81541	GAA	ESRRG	-	NULL		0.473	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	C	NM_206595		216896629	-1	no_errors	ENST00000408911	ensembl	human	known	70_37	missense	SNP	1.000	G	G	216896629	C	G	216896629	3	3	13	1	0	0	0	0	1	0	0	0	5274	922	32	1	1391	1	ESRRG	1	216896629	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6940032	216896629	32353992	85	1529										
SPATA17	128153	genome.wustl.edu	37	chr1	217824495	217824495	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtggagaagtttcttaggcaGaaagcaatatcaactaactg	10	6	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:217824495G>A	ENST00000366933.4	+	3	270	c.215G>A	c.(214-216)aGa>aAa	p.R72K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	72	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTAGGCAGAAAGCAATAT	0.289																																																	0													83	93	89					1																	217824495		2203	4290	6493	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.215G>A	1.37:g.217824495G>A	ENSP00000355900:p.Arg72Lys		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R72K	ENST00000366933.4	37	c.215	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973325	0.74246	.	.	ENSG00000162814	ENST00000366933	T	0.63913	-0.07	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.75447	2.3	0.39035	D	0.960018	D	0.89917	1.0	D	0.91635	0.999	T	0.81457	-0.0924	10	0.56958	D	0.05	-14.4651	15.1735	0.72894	0.0:0.0:1.0:0.0	.	72	Q96L03	SPT17_HUMAN	K	72	ENSP00000355900:R72K	ENSP00000355900:R72K	R	+	2	0	SPATA17	215891118	1.000000	0.71417	0.997000	0.53966	0.614000	0.37383	3.702000	0.54800	2.427000	0.82271	0.650000	0.86243	AGA	SPATA17	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	G	NM_138796		217824495	1	no_errors	ENST00000366933	ensembl	human	known	70_37	missense	SNP	1.000	A	A	217824495	G	A	217824495	3	1	13	1	0	0	0	0	1	0	0	0	15032	942	33	1	225	1	SPATA17	1	217824495	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	927866	217824495	31426126	86	1530										
IARS2	55699	genome.wustl.edu	37	chr1	220320875	220320875	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcttcctataaagtaattgtCatgccgactacgaaagaaaa	6	8	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:220320875C>A	ENST00000302637.5	+	23	3041	c.2937C>A	c.(2935-2937)gtC>gtA	p.V979V	IARS2_ENST00000366922.1_Silent_p.V907V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAGTAATTGTCATGCCGACTA	0.388																																																	0													109	114	112					1																	220320875		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2937C>A	1.37:g.220320875C>A			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.V979	ENST00000302637.5	37	c.2937	CCDS1523.1	1																																																																																			IARS2	-	superfamily_tRNAsynth_1a_anticodon-bd		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220320875	1	no_errors	ENST00000302637	ensembl	human	known	70_37	silent	SNP	0.925	A	A	220320875	C	A	220320875	2	1	13	1	0	0	0	0	0	0	0	1	7494	813	29	3		3	IARS2	1	220320875	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2496380	220320875	28929746	87	1531										
SUSD4	55061	genome.wustl.edu	37	chr1	223402655	223402655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtaaaactccaccacagttCcgtggttgtagcgctcacaa	8	12	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:223402655C>T	ENST00000343846.3	-	5	1433	c.800G>A	c.(799-801)gGa>gAa	p.G267E	SUSD4_ENST00000454695.2_Missense_Mutation_p.G107E|SUSD4_ENST00000494793.2_Missense_Mutation_p.G267E|SUSD4_ENST00000484758.2_Missense_Mutation_p.G198E|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.G267E			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	267	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CACCACAGTTCCGTGGTTGTA	0.527																																																	0													94	102	100					1																	223402655		2120	4250	6370	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.800G>A	1.37:g.223402655C>T	ENSP00000344219:p.Gly267Glu		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G267E	ENST00000343846.3	37	c.800	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750563	0.89753	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.72394	-0.65;-0.65;-0.65	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47093	D	0.000251	D	0.85080	0.5615	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85641	0.1276	10	0.87932	D	0	-19.1852	20.1257	0.97981	0.0:1.0:0.0:0.0	.	267	Q5VX71	SUSD4_HUMAN	E	267;267;198;107	ENSP00000344219:G267E;ENSP00000355843:G267E;ENSP00000399288:G107E	ENSP00000344219:G267E	G	-	2	0	SUSD4	221469278	1.000000	0.71417	0.905000	0.35620	0.894000	0.52154	5.408000	0.66368	2.767000	0.95098	0.655000	0.94253	GGA	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.527	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223402655	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	missense	SNP	0.997	T	T	223402655	C	T	223402655	3	4	13	1	0	0	0	0	1	0	0	0	15440	855	30	1	688	1	SUSD4	1	223402655	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3081780	223402655	25847966	88	1532										
PCNXL2	80003	genome.wustl.edu	37	chr1	233431150	233431150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttggtgaacttgctctgctcCgggtcgtggtaccagccccc	12	14	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:233431150C>T	ENST00000258229.9	-	1	309	c.75G>A	c.(73-75)ccG>ccA	p.P25P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	25						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTCTGCTCCGGGTCGTGGT	0.706																																																	0													16	21	19					1																	233431150		2147	4205	6352	SO:0001819	synonymous_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.75G>A	1.37:g.233431150C>T			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.P25	ENST00000258229.9	37	c.75	CCDS44335.1	1																																																																																			PCNXL2	-	NULL		0.706	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233431150	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	silent	SNP	0.084	T	T	233431150	C	T	233431150	2	4	13	1	0	0	0	0	0	0	0	1	11616	639	23	2		2	PCNXL2	1	233431150	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	10028495	233431150	15819471	89	1533										
TARBP1	6894	genome.wustl.edu	37	chr1	234529131	234529131	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cactagaggaagccactgttCtgcagagacactgaggtgct	12	10	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:234529131C>T	ENST00000040877.1	-	28	4536	c.4537G>A	c.(4537-4539)Gaa>Aaa	p.E1513K	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1513					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGCCACTGTTCTGCAGAGACA	0.453																																																	0													87	78	81					1																	234529131		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4537G>A	1.37:g.234529131C>T	ENSP00000040877:p.Glu1513Lys		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.E1513K	ENST00000040877.1	37	c.4537	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316395	0.81469	.	.	ENSG00000059588	ENST00000040877	T	0.29655	1.56	5.83	5.83	0.93111	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74509	-0.3642	10	0.66056	D	0.02	-12.4683	20.1067	0.97897	0.0:1.0:0.0:0.0	.	1513	Q13395	TARB1_HUMAN	K	1513	ENSP00000040877:E1513K	ENSP00000040877:E1513K	E	-	1	0	TARBP1	232595754	1.000000	0.71417	0.975000	0.42487	0.201000	0.24016	7.487000	0.81328	2.753000	0.94483	0.655000	0.94253	GAA	TARBP1	-	pfam_SpoU_MeTrfase		0.453	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646		234529131	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	1.000	T	T	234529131	C	T	234529131	3	4	13	1	0	0	0	0	1	0	0	0	15585	922	32	1	340	1	TARBP1	1	234529131	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1097981	234529131	14721490	90	1534										
HEATR1	55127	genome.wustl.edu	37	chr1	236748383	236748383	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctgcaacaaactgaagactCttatcgcaaatggaaagtgg	9	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:236748383C>G	ENST00000366582.3	-	17	2297	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T	HEATR1_ENST00000366581.2_Missense_Mutation_p.R728T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	728					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R728K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGAAGACTCTTATCGCAAA	0.378																																																	1	Substitution - Missense(1)	breast(1)											107	108	107					1																	236748383		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2183G>C	1.37:g.236748383C>G	ENSP00000355541:p.Arg728Thr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.R728T	ENST00000366582.3	37	c.2183	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441933	0.63067	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.08;-0.19	6.08	4.18	0.49190	Armadillo-type fold (1);	0.178052	0.64402	D	0.000011	T	0.55162	0.1903	L	0.56769	1.78	0.80722	D	1	B	0.21225	0.053	B	0.17722	0.019	T	0.49184	-0.8966	10	0.30078	T	0.28	.	10.0229	0.42055	0.0:0.737:0.0:0.263	.	728	Q9H583	HEAT1_HUMAN	T	728	ENSP00000355541:R728T;ENSP00000355540:R728T	ENSP00000355540:R728T	R	-	2	0	HEATR1	234815006	0.999000	0.42202	0.975000	0.42487	0.642000	0.38348	1.196000	0.32198	0.865000	0.35603	0.591000	0.81541	AGA	HEATR1	-	superfamily_ARM-type_fold		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236748383	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.989	G	G	236748383	C	G	236748383	3	3	13	1	0	0	0	0	1	0	0	0	7047	913	32	1	4367	1	HEATR1	1	236748383	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2219252	236748383	12502238	91	1535										
ACTN2	88	genome.wustl.edu	37	chr1	236883473	236883473	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcatccttcgctttgctattCaggatatttcggttgaaggt	9	8	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:236883473C>T	ENST00000366578.4	+	4	596	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q144*|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	144	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTTGCTATTCAGGATATTTC	0.333																																																	0													119	112	115					1																	236883473		2203	4300	6503	SO:0001587	stop_gained	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.430C>T	1.37:g.236883473C>T	ENSP00000355537:p.Gln144*		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q144*	ENST00000366578.4	37	c.430	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.870639	0.98534	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000355537:Q144X	Q	+	1	0	ACTN2	234950096	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.444000	0.80532	2.752000	0.94435	0.655000	0.94253	CAG	ACTN2	-	superfamily_CH-domain		0.333	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	C	NM_001103		236883473	1	no_errors	ENST00000366578	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	236883473	C	T	236883473	4	4	13	1	0	0	0	0	0	1	0	0	205	827	29	1	444	1	ACTN2	1	236883473	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	135090	236883473	12367148	92	1536										
CEP170	9859	genome.wustl.edu	37	chr1	243319566	243319566	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtccaatctcggatgtagtCttcctgctctttaatccggt	8	11	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:243319566C>G	ENST00000366542.1	-	14	3919	c.3868G>C	c.(3868-3870)Gac>Cac	p.D1290H	CEP170_ENST00000366543.1_Missense_Mutation_p.D1156H|CEP170_ENST00000366544.1_Missense_Mutation_p.D1192H|CEP170_ENST00000481987.1_Missense_Mutation_p.D16H|CEP170_ENST00000490813.1_Missense_Mutation_p.D16H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1290	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CGGATGTAGTCTTCCTGCTCT	0.428																																																	0													25	24	24					1																	243319566		1811	4049	5860	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3868G>C	1.37:g.243319566C>G	ENSP00000355500:p.Asp1290His		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.D1290H	ENST00000366542.1	37	c.3868	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185700|3.185700	0.57909|0.57909	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936;ENST00000492145|ENST00000336415	T;T;T;T|.	0.51817|.	0.69;0.69;0.79;1.89|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.046808|.	0.85682|.	D|.	0.000000|.	T|T	0.58047|0.58047	0.2095|0.2095	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.971;0.998;0.998;0.998|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.72032|.	D|.	0.01|.	-12.0544|-12.0544	17.0102|17.0102	0.86404|0.86404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1253;1192;1156;1290|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|N	1290;1192;1156;16;215;16;99;16;16|1253	ENSP00000355500:D1290H;ENSP00000355502:D1192H;ENSP00000355501:D1156H;ENSP00000394002:D99H|.	ENSP00000355500:D1290H|.	D|K	-|-	1|3	0|2	CEP170|CEP170	241386189|241386189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.436000|7.436000	0.80404|0.80404	2.244000|2.244000	0.73946|0.73946	0.555000|0.555000	0.69702|0.69702	GAC|AAG	CEP170	-	NULL		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	C	NM_014812		243319566	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	G	G	243319566	C	G	243319566	3	3	13	1	0	0	0	0	1	0	0	0	3255	913	32	1	944	1	CEP170	1	243319566	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6436093	243319566	5931055	93	1537										
HNRNPU	3192	genome.wustl.edu	37	chr1	245020903	245020903	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctaaacattttacttaccatCatcttatccataatagtatt	1	9	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:245020903C>T	ENST00000283179.9	-	8	1774	c.1611G>A	c.(1609-1611)atG>atA	p.M537I	HNRNPU_ENST00000444376.2_Missense_Mutation_p.M518I|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	537					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TACTTACCATCATCTTATCCA	0.423																																					NSCLC(33;911 1010 3329 23631 49995)												0													195	199	197					1																	245020903		2203	4300	6503	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1611G>A	1.37:g.245020903C>T	ENSP00000283179:p.Met537Ile		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.M537I	ENST00000283179.9	37	c.1611	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.245804	0.95272	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.42131	0.98;0.98	5.85	5.85	0.93711	.	0.071197	0.85682	N	0.000000	T	0.64193	0.2576	M	0.77313	2.365	0.80722	D	1	B;D;D;P	0.55172	0.267;0.97;0.97;0.483	B;P;P;B	0.57548	0.086;0.729;0.823;0.174	T	0.66052	-0.6019	10	0.66056	D	0.02	-11.545	20.1707	0.98158	0.0:1.0:0.0:0.0	.	462;518;537;261	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	I	518;537;462	ENSP00000393151:M518I;ENSP00000283179:M537I	ENSP00000283179:M537I	M	-	3	0	HNRNPU	243087526	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.378000	0.79679	2.770000	0.95276	0.557000	0.71058	ATG	HNRNPU	-	pfam_Zeta_toxin_domain		0.423	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	C	NM_031844		245020903	-1	no_errors	ENST00000283179	ensembl	human	known	70_37	missense	SNP	1.000	T	T	245020903	C	T	245020903	3	4	13	1	0	0	0	0	1	0	0	0	7293	826	29	1	894	1	HNRNPU	1	245020903	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1701337	245020903	4229718	94	1538										
KIDINS220	57498	genome.wustl.edu	37	chr2	8934073	8934073	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaaagcagttctgccagtttCcggctccttccacgaatagc	8	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:8934073C>A	ENST00000256707.3	-	12	1324	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	KIDINS220_ENST00000473731.1_Silent_p.R381R|KIDINS220_ENST00000418530.1_Silent_p.R339R|KIDINS220_ENST00000319688.5_Silent_p.R382R|KIDINS220_ENST00000427284.1_Silent_p.R381R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	381					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGCCAGTTTCCGGCTCCTTC	0.388																																																	0													90	83	85					2																	8934073		1826	4079	5905	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1143G>T	2.37:g.8934073C>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R381	ENST00000256707.3	37	c.1143	CCDS42650.1	2																																																																																			KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.388	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8934073	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	0.988	A	A	8934073	C	A	8934073	2	1	13	1	0	0	0	0	0	0	0	1	8291	842	30	3		3	KIDINS220	2	8934073	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		8934073	234265300	95	1539										
NOL10	79954	genome.wustl.edu	37	chr2	10729233	10729233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttctcctgctttgatctCataaaactggggctttagga	8	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:10729233C>G	ENST00000381685.5	-	19	1885	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	NOL10_ENST00000542668.1_Missense_Mutation_p.E544Q|NOL10_ENST00000538384.1_Missense_Mutation_p.E568Q|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000345985.3_Missense_Mutation_p.E544Q	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	594						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GCTTTGATCTCATAAAACTGG	0.488																																																	0													159	167	164					2																	10729233		2203	4300	6503	SO:0001583	missense	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1780G>C	2.37:g.10729233C>G	ENSP00000371101:p.Glu594Gln		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E594Q	ENST00000381685.5	37	c.1780	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391448	0.42410	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.46451	0.87;2.19;1.48;2.19	5.35	5.35	0.76521	.	0.190285	0.56097	N	0.000028	T	0.33527	0.0866	L	0.27053	0.805	0.47737	D	0.9995	B;B;B	0.29766	0.256;0.256;0.06	B;B;B	0.24155	0.051;0.051;0.028	T	0.08534	-1.0717	10	0.41790	T	0.15	-27.0834	19.4318	0.94772	0.0:1.0:0.0:0.0	.	568;594;544	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	Q	544;594;544;568	ENSP00000263837:E544Q;ENSP00000371101:E594Q;ENSP00000437625:E544Q;ENSP00000439663:E568Q	ENSP00000263837:E544Q	E	-	1	0	NOL10	10646684	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.505000	0.60421	2.668000	0.90789	0.591000	0.81541	GAG	NOL10	-	NULL		0.488	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	C	NM_024894		10729233	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10729233	C	G	10729233	3	3	13	1	0	0	0	0	1	0	0	0	10544	835	29	1	298	1	NOL10	2	10729233	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1795160	10729233	232470140	96	1540										
SDC1	6382	genome.wustl.edu	37	chr2	20403710	20403710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggtcctgcaggggttgagGtctcatggtggccaggctgc	18	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:20403710G>C	ENST00000254351.4	-	3	735	c.491C>G	c.(490-492)aCc>aGc	p.T164S	SDC1_ENST00000381150.1_Missense_Mutation_p.T164S|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	164					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGGGGTTGAGGTCTCATGGTG	0.657																																																	0													109	104	106					2																	20403710		2203	4300	6503	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.491C>G	2.37:g.20403710G>C	ENSP00000254351:p.Thr164Ser		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	pfam_Syndecan,smart_Neurexin-like	p.T164S	ENST00000254351.4	37	c.491	CCDS1697.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758553	0.31137	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000429035	T;T;T	0.35236	2.18;2.18;1.32	3.87	2.99	0.34606	.	0.226640	0.30732	N	0.008987	T	0.44912	0.1316	M	0.65975	2.015	0.29456	N	0.858107	P	0.51653	0.947	P	0.53360	0.724	T	0.45145	-0.9281	10	0.87932	D	0	-20.3807	7.645	0.28315	0.1153:0.0:0.8847:0.0	.	164	P18827	SDC1_HUMAN	S	164;164;172	ENSP00000254351:T164S;ENSP00000370542:T164S;ENSP00000400773:T172S	ENSP00000254351:T164S	T	-	2	0	SDC1	20267191	0.452000	0.25713	0.925000	0.36789	0.205000	0.24178	1.189000	0.32114	1.215000	0.43411	0.561000	0.74099	ACC	SDC1	-	pfam_Syndecan		0.657	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1	G	NM_001006946		20403710	-1	no_errors	ENST00000254351	ensembl	human	known	70_37	missense	SNP	0.938	C	C	20403710	G	C	20403710	3	2	13	1	0	0	0	0	1	0	0	0	13981	1261	44	4	453	4	SDC1	2	20403710	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9674477	20403710	222795663	97	1541										
PUM2	23369	genome.wustl.edu	37	chr2	20512059	20512059	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agaagaacttaatacatattCtaccatgctcacaccaaggc	5	11	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:20512059C>G	ENST00000361078.2	-	3	308	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	PUM2_ENST00000319801.5_Missense_Mutation_p.E96Q|PUM2_ENST00000536417.1_Missense_Mutation_p.E40Q|PUM2_ENST00000338086.5_Missense_Mutation_p.E96Q|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000403432.1_Missense_Mutation_p.E96Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	96	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATACATATTCTACCATGCTC	0.363																																																	0													99	93	95					2																	20512059		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.286G>C	2.37:g.20512059C>G	ENSP00000354370:p.Glu96Gln		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E96Q	ENST00000361078.2	37	c.286		2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436652	0.83885	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T	0.61158	0.13;0.33;0.44;0.13;0.35	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.73598	2.24	0.80722	D	1	D;B;D	0.89917	0.998;0.011;1.0	D;B;D	0.91635	0.993;0.009;0.999	T	0.80313	-0.1435	10	0.87932	D	0	-15.3817	16.9508	0.86245	0.0:0.8722:0.1278:0.0	.	40;96;96	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	Q	96;96;96;96;40;96	ENSP00000338173:E96Q;ENSP00000354370:E96Q;ENSP00000326746:E96Q;ENSP00000385992:E96Q;ENSP00000440093:E40Q	ENSP00000326746:E96Q	E	-	1	0	PUM2	20375540	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.818000	0.86416	1.436000	0.47453	0.591000	0.81541	GAA	PUM2	-	NULL		0.363	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		C	NM_015317		20512059	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20512059	C	G	20512059	3	3	13	1	0	0	0	0	1	0	0	0	12856	922	32	1	2980	1	PUM2	2	20512059	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	108349	20512059	222687314	98	1542										
APOB	338	genome.wustl.edu	37	chr2	21230143	21230143	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgtcaaaggatttgatgctCtgactgataaactcacaaag	8	8	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:21230143C>G	ENST00000233242.1	-	26	9724	c.9597G>C	c.(9595-9597)caG>caC	p.Q3199H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3199	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTGATGCTCTGACTGATAA	0.318																																																	0													56	56	56					2																	21230143		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9597G>C	2.37:g.21230143C>G	ENSP00000233242:p.Gln3199His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q3199H	ENST00000233242.1	37	c.9597	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	4.615	0.114286	0.08831	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37915	1.17	5.07	-0.551	0.11822	.	1.249790	0.05545	N	0.566543	T	0.24812	0.0602	L	0.29908	0.895	0.09310	N	0.999992	B	0.14805	0.011	B	0.19148	0.024	T	0.31251	-0.9950	10	0.54805	T	0.06	.	2.8914	0.05677	0.1697:0.3289:0.3734:0.128	.	3199	P04114	APOB_HUMAN	H	3199	ENSP00000233242:Q3199H	ENSP00000233242:Q3199H	Q	-	3	2	APOB	21083648	0.001000	0.12720	0.008000	0.14137	0.045000	0.14185	-0.268000	0.08607	-0.010000	0.14271	0.563000	0.77884	CAG	APOB	-	NULL		0.318	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21230143	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.002	G	G	21230143	C	G	21230143	3	3	13	1	0	0	0	0	1	0	0	0	785	912	32	1	4110	1	APOB	2	21230143	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	718084	21230143	221969230	99	1543										
APOB	338	genome.wustl.edu	37	chr2	21252549	21252549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttccgcagagcctggatggCagctttctggatcatcagtg	12	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:21252549C>T	ENST00000233242.1	-	12	1706	c.1579G>A	c.(1579-1581)Gcc>Acc	p.A527T	APOB_ENST00000399256.4_Missense_Mutation_p.A527T	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	527	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGATGGCAGCTTTCTGG	0.423																																																	0													203	186	191					2																	21252549		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1579G>A	2.37:g.21252549C>T	ENSP00000233242:p.Ala527Thr		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A527T	ENST00000233242.1	37	c.1579	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.585445	0.96578	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	D;D	0.81499	-1.5;-1.5	5.18	5.18	0.71444	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.64402	D	0.000012	D	0.90133	0.6917	M	0.78637	2.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91124	0.4932	10	0.87932	D	0	.	19.0735	0.93150	0.0:1.0:0.0:0.0	.	527	P04114	APOB_HUMAN	T	527	ENSP00000233242:A527T;ENSP00000382200:A527T	ENSP00000233242:A527T	A	-	1	0	APOB	21106054	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.398000	0.66308	2.581000	0.87130	0.561000	0.74099	GCC	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21252549	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21252549	C	T	21252549	3	4	13	1	0	0	0	0	1	0	0	0	785	710	25	4	12184	4	APOB	2	21252549	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	22406	21252549	221946824	100	1544										
APOB	338	genome.wustl.edu	37	chr2	21256185	21256185	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatacctggacacctcaatCagctgtggcaagagagatgt	11	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:21256185C>T	ENST00000233242.1	-	9	1237	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	APOB_ENST00000399256.4_Silent_p.L370L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	370	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACCTCAATCAGCTGTGGCA	0.428																																																	0													90	84	86					2																	21256185		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1110G>A	2.37:g.21256185C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L370	ENST00000233242.1	37	c.1110	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21256185	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21256185	C	T	21256185	2	4	13	1	0	0	0	0	0	0	0	1	785	813	29	1		1	APOB	2	21256185	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3636	21256185	221943188	101	1545										
UBXN2A	165324	genome.wustl.edu	37	chr2	24194275	24194275	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtgtgtctcccgctgaacaGaagaaacaggtaaataaatg	10	7	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24194275G>A	ENST00000309033.4	+	3	415	c.171G>A	c.(169-171)caG>caA	p.Q57Q	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Silent_p.Q57Q|UBXN2A_ENST00000535786.1_Silent_p.Q57Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	57					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CCGCTGAACAGAAGAAACAGG	0.343																																																	0													105	111	109					2																	24194275		2203	4300	6503	SO:0001819	synonymous_variant	165324			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"UBX domain containing"	27265	protein-coding gene	gene with protein product			"UBX domain containing 4"	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.171G>A	2.37:g.24194275G>A			A8K577|B7ZKP8|Q569G8	Silent	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.Q57	ENST00000309033.4	37	c.171	CCDS1704.1	2																																																																																			UBXN2A	-	superfamily_SEP_domain,smart_SEP_domain		0.343	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2A	HGNC	protein_coding	OTTHUMT00000246824.2	G	NM_181713		24194275	1	no_errors	ENST00000309033	ensembl	human	known	70_37	silent	SNP	0.886	A	A	24194275	G	A	24194275	2	1	13	1	0	0	0	0	0	0	0	1	16945	933	33	1		1	UBXN2A	2	24194275	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2938090	24194275	219005098	102	1546										
C2orf44	80304	genome.wustl.edu	37	chr2	24261115	24261115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggcatactgatcagactttGaagaaggaagaaatgttgta	11	4	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24261115G>A	ENST00000295148.4	-	2	1307	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	C2orf44_ENST00000406895.3_Missense_Mutation_p.S417L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	417									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGACTTTGAAGAAGGAAG	0.353			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													118	123	121					2																	24261115		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1250C>T	2.37:g.24261115G>A	ENSP00000295148:p.Ser417Leu		D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	NULL	p.S417L	ENST00000295148.4	37	c.1250	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608946	0.66558	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.60797	0.16;0.16	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78580	-0.2149	10	0.87932	D	0	-12.0453	19.5062	0.95116	0.0:0.0:1.0:0.0	.	417;417	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	L	417	ENSP00000295148:S417L;ENSP00000385816:S417L	ENSP00000295148:S417L	S	-	2	0	C2orf44	24114619	1.000000	0.71417	0.988000	0.46212	0.206000	0.24218	9.476000	0.97823	2.701000	0.92244	0.655000	0.94253	TCA	C2orf44	-	NULL		0.353	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	G	NM_025203		24261115	-1	no_errors	ENST00000295148	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24261115	G	A	24261115	3	1	13	1	0	0	0	0	1	0	0	0	2173	1294	45	1	927	1	C2orf44	2	24261115	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	66840	24261115	218938258	103	1547										
C2orf44	80304	genome.wustl.edu	37	chr2	24261742	24261742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtccacagttgctgtgatgGagcagacgtggctgtccaca	13	10	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24261742G>C	ENST00000295148.4	-	2	680	c.623C>G	c.(622-624)tCc>tGc	p.S208C	C2orf44_ENST00000406895.3_Missense_Mutation_p.S208C	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	208									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGATGGAGCAGACGTG	0.488			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													55	52	53					2																	24261742		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.623C>G	2.37:g.24261742G>C	ENSP00000295148:p.Ser208Cys		D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	NULL	p.S208C	ENST00000295148.4	37	c.623	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359775	0.41801	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.53857	0.6;0.6	5.51	3.63	0.41609	WD40/YVTN repeat-like-containing domain (1);	0.207418	0.49305	N	0.000145	T	0.50718	0.1632	L	0.54323	1.7	0.35395	D	0.791078	B;B	0.20671	0.047;0.047	B;B	0.22386	0.039;0.039	T	0.59830	-0.7380	10	0.87932	D	0	-2.8768	15.8206	0.78638	0.0:0.2779:0.7221:0.0	.	208;208	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	C	208	ENSP00000295148:S208C;ENSP00000385816:S208C	ENSP00000295148:S208C	S	-	2	0	C2orf44	24115246	1.000000	0.71417	0.484000	0.27391	0.789000	0.44602	5.345000	0.65987	0.740000	0.32651	0.655000	0.94253	TCC	C2orf44	-	NULL		0.488	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	G	NM_025203		24261742	-1	no_errors	ENST00000295148	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24261742	G	C	24261742	3	2	13	1	0	0	0	0	1	0	0	0	2173	1174	41	1	1554	1	C2orf44	2	24261742	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	627	24261742	218937631	104	1548										
NCOA1	8648	genome.wustl.edu	37	chr2	24930525	24930525	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggacaggtacaaggaaactCcagtataaaactagaactgg	10	7	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24930525C>G	ENST00000406961.1	+	13	2838	c.2186C>G	c.(2185-2187)tCc>tGc	p.S729C	NCOA1_ENST00000407230.1_Missense_Mutation_p.S578C|NCOA1_ENST00000395856.3_Missense_Mutation_p.S729C|NCOA1_ENST00000405141.1_Missense_Mutation_p.S729C|NCOA1_ENST00000348332.3_Missense_Mutation_p.S729C|NCOA1_ENST00000288599.5_Missense_Mutation_p.S729C|NCOA1_ENST00000538539.1_Missense_Mutation_p.S729C			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	729					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGAAACTCCAGTATAAAA	0.403			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													92	88	89					2																	24930525		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2186C>G	2.37:g.24930525C>G	ENSP00000385216:p.Ser729Cys		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.S729C	ENST00000406961.1	37	c.2186	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536638	0.27475	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02085	4.58;4.58;4.46;4.58;4.58;4.58;4.58	6.04	6.04	0.98038	.	0.266709	0.43260	D	0.000581	T	0.02156	0.0067	N	0.08118	0	0.23341	N	0.997879	B;B;B;B	0.31351	0.32;0.214;0.25;0.07	B;B;B;B	0.35039	0.181;0.054;0.194;0.111	T	0.53173	-0.8476	10	0.52906	T	0.07	.	16.0332	0.80597	0.1349:0.8651:0.0:0.0	.	729;729;729;578	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	C	729;729;578;729;729;729;729	ENSP00000385216:S729C;ENSP00000385097:S729C;ENSP00000385195:S578C;ENSP00000444039:S729C;ENSP00000320940:S729C;ENSP00000288599:S729C;ENSP00000379197:S729C	ENSP00000288599:S729C	S	+	2	0	NCOA1	24784029	0.410000	0.25376	0.054000	0.19295	0.842000	0.47809	3.840000	0.55843	2.873000	0.98535	0.563000	0.77884	TCC	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.403	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	C	NM_147223		24930525	1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	0.410	G	G	24930525	C	G	24930525	3	3	13	1	0	0	0	0	1	0	0	0	10252	855	30	1	2220	1	NCOA1	2	24930525	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	668783	24930525	218268848	105	1549										
ADCY3	109	genome.wustl.edu	37	chr2	25065203	25065203	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcgtctttcttcatgtctttCagcatctcgtcagccacgtg	7	13	7	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:25065203C>A	ENST00000260600.5	-	3	1727	c.876G>T	c.(874-876)ctG>ctT	p.L292L	ADCY3_ENST00000405392.1_5'Flank	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	292					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATGTCTTTCAGCATCTCGT	0.587																																																	0													212	168	183					2																	25065203		2203	4300	6503	SO:0001819	synonymous_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.876G>T	2.37:g.25065203C>A			B3KT86|Q53T54|Q9UDB1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L292	ENST00000260600.5	37	c.876	CCDS1715.1	2																																																																																			ADCY3	-	smart_A/G_cyclase		0.587	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	C			25065203	-1	no_errors	ENST00000260600	ensembl	human	known	70_37	silent	SNP	0.997	A	A	25065203	C	A	25065203	2	1	13	1	0	0	0	0	0	0	0	1	295	813	29	3		3	ADCY3	2	25065203	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	134678	25065203	218134170	106	1550										
EIF2AK2	5610	genome.wustl.edu	37	chr2	37334416	37334416	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatactttttcagaagggctCtaacatgtgtgtcgttcatt	9	7	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:37334416C>G	ENST00000233057.4	-	17	1978	c.1656G>C	c.(1654-1656)taG>taC	p.*552Y	EIF2AK2_ENST00000405334.1_Nonstop_Mutation_p.*511Y|EIF2AK2_ENST00000395127.2_Nonstop_Mutation_p.*552Y	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	0					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CAGAAGGGCTCTAACATGTGT	0.353																																																	0													149	137	141					2																	37334416		2203	4300	6503	SO:0001578	stop_lost	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1656G>C	2.37:g.37334416C>G			A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Nonstop_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.*552Y	ENST00000233057.4	37	c.1656	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351506	0.41700	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	.	.	.	5.06	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1478	0.25593	0.0:0.7985:0.0:0.2015	.	.	.	.	Y	552;552;511	.	.	X	-	3	2	EIF2AK2	37187920	0.929000	0.31497	0.342000	0.25602	0.008000	0.06430	1.834000	0.39171	1.262000	0.44165	-0.251000	0.11542	TAG	EIF2AK2	-	NULL		0.353	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	C	NM_002759		37334416	-1	no_errors	ENST00000233057	ensembl	human	known	70_37	nonstop	SNP	0.634	G	G	37334416	C	G	37334416	4	3	13	1	0	0	0	0	0	0	0	0	5007	924	32	1	3	1	EIF2AK2	2	37334416	Nonstop_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	12269213	37334416	205864957	107	1551										
SULT6B1	391365	genome.wustl.edu	37	chr2	37410613	37410613	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaggtaatttgtcatagtgGaggtgagttgccaaaatcct	11	7	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:37410613G>A	ENST00000535679.1	-	3	356	c.357C>T	c.(355-357)ctC>ctT	p.L119L	SULT6B1_ENST00000260637.3_Silent_p.L81L|SULT6B1_ENST00000407963.1_Silent_p.L81L|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	119						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTCATAGTGGAGGTGAGTTG	0.373																																																	0													139	136	137					2																	37410613		2203	4300	6503	SO:0001819	synonymous_variant	391365			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.357C>T	2.37:g.37410613G>A			B2RTS7	Silent	SNP	pfam_Sulfotransferase_dom	p.L119	ENST00000535679.1	37	c.357		2																																																																																			SULT6B1	-	pfam_Sulfotransferase_dom		0.373	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		G	NM_001032377		37410613	-1	no_errors	ENST00000535679	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37410613	G	A	37410613	2	1	13	1	0	0	0	0	0	0	0	1	15414	1161	41	1		1	SULT6B1	2	37410613	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	76197	37410613	205788760	108	1552										
PLEKHH2	130271	genome.wustl.edu	37	chr2	43958683	43958683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagtaaagaaggaatcatttCccctctgacaactctacctt	5	12	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:43958683C>A	ENST00000282406.4	+	19	2995	c.2885C>A	c.(2884-2886)tCc>tAc	p.S962Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	962	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGAATCATTTCCCCTCTGACA	0.338																																																	0													103	104	104					2																	43958683		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2885C>A	2.37:g.43958683C>A	ENSP00000282406:p.Ser962Tyr		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S962Y	ENST00000282406.4	37	c.2885	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722225	0.30503	.	.	ENSG00000152527	ENST00000282406	T	0.74632	-0.86	5.61	4.72	0.59763	MyTH4 domain (2);	0.163706	0.56097	D	0.000034	T	0.70902	0.3277	L	0.48362	1.52	0.44454	D	0.997387	B;P	0.45474	0.003;0.859	B;B	0.43701	0.017;0.428	T	0.68580	-0.5371	10	0.23891	T	0.37	-7.7161	16.7266	0.85423	0.0:0.7581:0.2419:0.0	.	962;399	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Y	962	ENSP00000282406:S962Y	ENSP00000282406:S962Y	S	+	2	0	PLEKHH2	43812187	0.827000	0.29292	0.676000	0.29932	0.947000	0.59692	1.779000	0.38624	1.475000	0.48197	0.655000	0.94253	TCC	PLEKHH2	-	smart_MyTH4_dom,pfscan_MyTH4_dom		0.338	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	C	NM_172069		43958683	1	no_errors	ENST00000282406	ensembl	human	known	70_37	missense	SNP	0.950	A	A	43958683	C	A	43958683	3	1	13	1	0	0	0	0	1	0	0	0	12101	855	30	3	2955	3	PLEKHH2	2	43958683	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6548070	43958683	199240690	109	1553										
PNPT1	87178	genome.wustl.edu	37	chr2	55883471	55883471	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctcttctatttaaaccagtGactttgccaatttcattagt	4	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:55883471G>A	ENST00000447944.2	-	16	1406	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	440					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTAAACCAGTGACTTTGCCAA	0.294																																																	0													95	99	97					2																	55883471		2203	4299	6502	SO:0001819	synonymous_variant	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1320C>T	2.37:g.55883471G>A			Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.V440	ENST00000447944.2	37	c.1320	CCDS1856.1	2																																																																																			PNPT1	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase		0.294	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	G	NM_033109		55883471	-1	no_errors	ENST00000415374	ensembl	human	known	70_37	silent	SNP	0.951	A	A	55883471	G	A	55883471	2	1	13	1	0	0	0	0	0	0	0	1	12197	1277	45	1		1	PNPT1	2	55883471	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	11924788	55883471	187315902	110	1554										
CLEC4F	165530	genome.wustl.edu	37	chr2	71043160	71043160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctgttcctgtgaagtaatGaccacatggagggtcttcag	12	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:71043160G>A	ENST00000272367.2	-	4	1429	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	CLEC4F_ENST00000426626.1_Silent_p.V451V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	451					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTGAAGTAATGACCACATGGA	0.522																																					Colon(107;10 2157 6841 26035)												0													138	129	132					2																	71043160		2203	4300	6503	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1353C>T	2.37:g.71043160G>A			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V451	ENST00000272367.2	37	c.1353	CCDS1910.1	2																																																																																			CLEC4F	-	NULL		0.522	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	G	NM_173535		71043160	-1	no_errors	ENST00000272367	ensembl	human	known	70_37	silent	SNP	0.000	A	A	71043160	G	A	71043160	2	1	13	1	0	0	0	0	0	0	0	1	3521	1277	45	1		1	CLEC4F	2	71043160	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	15159689	71043160	172156213	111	1555										
EXOC6B	23233	genome.wustl.edu	37	chr2	72719498	72719498	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acattctgcagagagttgctCagagtcctggttagcaacag	11	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:72719498C>G	ENST00000272427.6	-	16	1744	c.1614G>C	c.(1612-1614)ctG>ctC	p.L538L	EXOC6B_ENST00000410104.1_Silent_p.L538L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	538					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GAGAGTTGCTCAGAGTCCTGG	0.423																																																	0													149	145	146					2																	72719498		1873	4110	5983	SO:0001819	synonymous_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1614G>C	2.37:g.72719498C>G			B8ZZY3	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.L538	ENST00000272427.6	37	c.1614	CCDS46333.1	2																																																																																			EXOC6B	-	pfam_Sec15,pirsf_Sec15		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	C	XM_039570		72719498	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	silent	SNP	0.992	G	G	72719498	C	G	72719498	2	3	13	1	0	0	0	0	0	0	0	1	5321	813	29	1		1	EXOC6B	2	72719498	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1676338	72719498	170479875	112	1556										
DCTN1	1639	genome.wustl.edu	37	chr2	74604805	74604805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacttttgaagcagaagaatCaggtgtctctggggaagtag	14	5	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:74604805C>T	ENST00000361874.3	-	3	645	c.328G>A	c.(328-330)Gat>Aat	p.D110N	DCTN1_ENST00000409567.3_Missense_Mutation_p.D110N|DCTN1_ENST00000409438.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.D110N|DCTN1_ENST00000407639.2_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.D93N|DCTN1_ENST00000409240.1_Missense_Mutation_p.D93N	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	110					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCAGAAGAATCAGGTGTCTCT	0.448																																																	0													161	162	162					2																	74604805		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.328G>A	2.37:g.74604805C>T	ENSP00000354791:p.Asp110Asn		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.D110N	ENST00000361874.3	37	c.328	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277742	0.80692	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090	T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.17	5.17	0.71159	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.44688	D	0.000436	T	0.57932	0.2087	N	0.14661	0.345	0.80722	D	1	B;B;P;B	0.34522	0.309;0.007;0.455;0.156	B;B;B;B	0.27608	0.081;0.009;0.077;0.037	T	0.60063	-0.7336	10	0.36615	T	0.2	-9.2242	17.5724	0.87939	0.0:1.0:0.0:0.0	.	110;93;110;110	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	N	110;110;93;93;93;110;117;93;114	ENSP00000354791:D110N;ENSP00000377571:D110N;ENSP00000386406:D93N;ENSP00000387327:D93N;ENSP00000386843:D110N;ENSP00000414315:D117N;ENSP00000404038:D93N;ENSP00000402509:D114N	ENSP00000354791:D110N	D	-	1	0	DCTN1	74458313	1.000000	0.71417	0.965000	0.40720	0.926000	0.56050	7.251000	0.78297	2.680000	0.91292	0.655000	0.94253	GAT	DCTN1	-	superfamily_CAP-Gly_domain		0.448	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	C	NM_004082		74604805	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74604805	C	T	74604805	3	4	13	1	0	0	0	0	1	0	0	0	4311	826	29	1	3640	1	DCTN1	2	74604805	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1885307	74604805	168594568	113	1557										
HK2	3099	genome.wustl.edu	37	chr2	75107555	75107555	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccagaagacattagagcatCtgcagctgagccatgaccag	11	11	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:75107555C>G	ENST00000290573.2	+	10	2029	c.1429C>G	c.(1429-1431)Ctg>Gtg	p.L477V	HK2_ENST00000409174.1_Missense_Mutation_p.L449V	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	477	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATTAGAGCATCTGCAGCTGAG	0.592																																																	0													77	74	75					2																	75107555		2203	4300	6503	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1429C>G	2.37:g.75107555C>G	ENSP00000290573:p.Leu477Val		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L477V	ENST00000290573.2	37	c.1429	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492631	0.12702	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98792	-5.14;-5.14	5.08	2.29	0.28610	Hexokinase, N-terminal (1);	0.132550	0.52532	D	0.000062	D	0.96756	0.8941	M	0.79475	2.455	0.48696	D	0.99969	P	0.38280	0.625	B	0.34931	0.192	D	0.93630	0.6955	10	0.72032	D	0.01	-14.4903	3.9375	0.09311	0.1672:0.5743:0.0:0.2585	.	477	P52789	HXK2_HUMAN	V	477;477;449	ENSP00000290573:L477V;ENSP00000387140:L449V	ENSP00000290573:L477V	L	+	1	2	HK2	74961063	0.537000	0.26386	0.393000	0.26258	0.004000	0.04260	1.134000	0.31442	0.403000	0.25479	-0.126000	0.14955	CTG	HK2	-	pfam_Hexokinase_N		0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75107555	1	no_errors	ENST00000290573	ensembl	human	known	70_37	missense	SNP	0.733	G	G	75107555	C	G	75107555	3	3	13	1	0	0	0	0	1	0	0	0	7211	912	32	1	1467	1	HK2	2	75107555	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	502750	75107555	168091818	114	1558										
SUCLG1	8802	genome.wustl.edu	37	chr2	84668473	84668473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgctggggaattccttcagtGatacacacaaccaagggaat	10	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:84668473G>A	ENST00000393868.2	-	4	639	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	143					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TTCCTTCAGTGATACACACAA	0.498																																					Ovarian(48;203 1101 37206 40305 50790)												0													113	104	107					2																	84668473		2203	4300	6503	SO:0001819	synonymous_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.429C>T	2.37:g.84668473G>A			Q9BWB0|Q9UNP6	Silent	SNP	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.I143	ENST00000393868.2	37	c.429	CCDS1967.2	2																																																																																			SUCLG1	-	pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha		0.498	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2	G	NM_003849		84668473	-1	no_errors	ENST00000393868	ensembl	human	known	70_37	silent	SNP	0.557	A	A	84668473	G	A	84668473	2	1	13	1	0	0	0	0	0	0	0	1	15394	1280	45	1		1	SUCLG1	2	84668473	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9560918	84668473	158530900	115	1559										
TCF7L1	83439	genome.wustl.edu	37	chr2	85360955	85360955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acgaggggggcgaggagcagGagccgagcagcgatagcgcc	20	10	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:85360955G>C	ENST00000282111.3	+	1	423	c.148G>C	c.(148-150)Gag>Cag	p.E50Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	50	CTNNB1-binding. {ECO:0000250}.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGAGGAGCAGGAGCCGAGCAG	0.716																																																	0													17	17	17					2																	85360955		2102	4123	6225	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.148G>C	2.37:g.85360955G>C	ENSP00000282111:p.Glu50Gln		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E50Q	ENST00000282111.3	37	c.148	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759886	0.89932	.	.	ENSG00000152284	ENST00000282111	D	0.99042	-5.36	3.91	3.91	0.45181	CTNNB1 binding, N-teminal (1);	0.078447	0.49305	U	0.000143	D	0.98554	0.9517	M	0.83774	2.66	0.41898	D	0.990404	P	0.47484	0.896	P	0.46419	0.516	D	0.99466	1.0944	10	0.87932	D	0	.	13.7387	0.62833	0.0:0.0:1.0:0.0	.	50	Q9HCS4	TF7L1_HUMAN	Q	50	ENSP00000282111:E50Q	ENSP00000282111:E50Q	E	+	1	0	TCF7L1	85214466	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.442000	0.90317	1.876000	0.54355	0.557000	0.71058	GAG	TCF7L1	-	pfam_CTNNB1-bd_N		0.716	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	G	NM_031283		85360955	1	no_errors	ENST00000282111	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85360955	G	C	85360955	3	2	13	1	0	0	0	0	1	0	0	0	15727	1175	41	1	150	1	TCF7L1	2	85360955	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	692482	85360955	157838418	116	1560										
GGCX	2677	genome.wustl.edu	37	chr2	85781368	85781368	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggaaaccagctgagaggtCaagcagcagcccaccccagt	11	14	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:85781368C>G	ENST00000233838.4	-	7	867	c.787G>C	c.(787-789)Gac>Cac	p.D263H	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.D206H	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	263					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCTGAGAGGTCAAGCAGCAGC	0.507																																																	0													183	180	181					2																	85781368		2203	4300	6503	SO:0001583	missense	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.787G>C	2.37:g.85781368C>G	ENSP00000233838:p.Asp263His		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.D263H	ENST00000233838.4	37	c.787	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896173	0.91962	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.96967	-4.19;-4.19	5.91	5.91	0.95273	HTTM (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99116	1.0848	10	0.87932	D	0	-23.68	17.7884	0.88545	0.0:1.0:0.0:0.0	.	206;102;263	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	H	263;206	ENSP00000233838:D263H;ENSP00000408045:D206H	ENSP00000233838:D263H	D	-	1	0	GGCX	85634879	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.387000	0.79785	2.804000	0.96469	0.462000	0.41574	GAC	GGCX	-	pfam_VKG_COase,smart_HTTM		0.507	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	C	NM_000821		85781368	-1	no_errors	ENST00000233838	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85781368	C	G	85781368	3	3	13	1	0	0	0	0	1	0	0	0	6375	826	29	1	1525	1	GGCX	2	85781368	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	420413	85781368	157418005	117	1561										
MAL	4118	genome.wustl.edu	37	chr2	95713817	95713817	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcgtggccaccaccaccttGatcatcctgtacataattgg	7	13	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:95713817G>A	ENST00000309988.4	+	2	316	c.207G>A	c.(205-207)ttG>ttA	p.L69L	MAL_ENST00000353004.3_Silent_p.L69L|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	69	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACCACCTTGATCATCCTGT	0.617																																																	0													110	97	101					2																	95713817		2203	4300	6503	SO:0001819	synonymous_variant	4118				CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.207G>A	2.37:g.95713817G>A			Q6FH77	Silent	SNP	pfam_MARVEL-like_dom,prints_MAL	p.L69	ENST00000309988.4	37	c.207	CCDS2006.1	2																																																																																			MAL	-	pfam_MARVEL-like_dom		0.617	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAL	HGNC	protein_coding	OTTHUMT00000254982.3	G	NM_002371		95713817	1	no_errors	ENST00000309988	ensembl	human	known	70_37	silent	SNP	0.345	A	A	95713817	G	A	95713817	2	1	13	1	0	0	0	0	0	0	0	1	9222	1281	45	1		1	MAL	2	95713817	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9932449	95713817	147485556	118	1562										
TRIM43	129868	genome.wustl.edu	37	chr2	96265243	96265243	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agttttttgaatgtcaccaaGagttccctcatatggagtta	8	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:96265243G>A	ENST00000272395.2	+	7	1399	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	421	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGTCACCAAGAGTTCCCTCA	0.448																																																	0													1	1	1					2																	96265243		531	1255	1786	SO:0001819	synonymous_variant	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.1263G>A	2.37:g.96265243G>A			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K421	ENST00000272395.2	37	c.1263	CCDS2015.1	2																																																																																			TRIM43	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.448	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	G	NM_138800		96265243	1	no_errors	ENST00000272395	ensembl	human	known	70_37	silent	SNP	0.000	A	A	96265243	G	A	96265243	2	1	13	1	0	0	0	0	0	0	0	1	16549	933	33	1		1	TRIM43	2	96265243	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	551426	96265243	146934130	119	1563										
SNRNP200	23020	genome.wustl.edu	37	chr2	96957551	96957551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgagccctccctcagaaacaGacccagagtgtccttttcta	7	14	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:96957551G>A	ENST00000323853.5	-	17	2325	c.2248C>T	c.(2248-2250)Ctg>Ttg	p.L750L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	750	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCAGAAACAGACCCAGAGTG	0.577																																																	0													64	60	62					2																	96957551		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2248C>T	2.37:g.96957551G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L750	ENST00000323853.5	37	c.2248	CCDS2020.1	2																																																																																			SNRNP200	-	pfscan_Helicase_C		0.577	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	G	NM_014014		96957551	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	silent	SNP	0.977	A	A	96957551	G	A	96957551	2	1	13	1	0	0	0	0	0	0	0	1	14882	933	33	1		1	SNRNP200	2	96957551	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	692308	96957551	146241822	120	1564										
ARID5A	10865	genome.wustl.edu	37	chr2	97217455	97217455	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cggagacgctaaccgcccttCtgcgttccataaaggtggct	11	13	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:97217455C>T	ENST00000357485.3	+	7	1268	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F	ARID5A_ENST00000454558.2_Missense_Mutation_p.S329F	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	397					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AACCGCCCTTCTGCGTTCCAT	0.612																																																	0													39	35	36					2																	97217455		2203	4300	6503	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1190C>T	2.37:g.97217455C>T	ENSP00000350078:p.Ser397Phe		Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S397F	ENST00000357485.3	37	c.1190	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856635	0.51376	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.70164	-0.46	5.22	5.22	0.72569	.	0.000000	0.48286	D	0.000182	T	0.79713	0.4493	M	0.67953	2.075	0.33989	D	0.648927	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.96;0.996	D	0.85076	0.0943	10	0.54805	T	0.06	-17.7332	14.6192	0.68572	0.0:1.0:0.0:0.0	.	397;329;397	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	F	397;397;329	ENSP00000350078:S397F	ENSP00000350078:S397F	S	+	2	0	ARID5A	96581182	0.912000	0.30974	0.996000	0.52242	0.536000	0.34869	3.108000	0.50337	2.588000	0.87417	0.655000	0.94253	TCT	ARID5A	-	NULL		0.612	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	C	NM_212481		97217455	1	no_errors	ENST00000357485	ensembl	human	known	70_37	missense	SNP	0.951	T	T	97217455	C	T	97217455	3	4	13	1	0	0	0	0	1	0	0	0	921	913	32	1	1216	1	ARID5A	2	97217455	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	259904	97217455	145981918	121	1565										
AFF3	3899	genome.wustl.edu	37	chr2	100210165	100210165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggacgatcctgcttagccccCgcgtgcggcgcttctcgcag	13	16	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:100210165C>T	ENST00000409236.2	-	13	2070	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	AFF3_ENST00000356421.2_Missense_Mutation_p.R678Q|AFF3_ENST00000317233.4_Missense_Mutation_p.R653Q|AFF3_ENST00000409579.1_Missense_Mutation_p.R678Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	653					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTTAGCCCCCGCGTGCGGCG	0.632																																																	0													61	66	64					2																	100210165		2203	4299	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1958G>A	2.37:g.100210165C>T	ENSP00000387207:p.Arg653Gln		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R678Q	ENST00000409236.2	37	c.2033	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074938	0.76415	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.17	5.17	0.71159	.	0.086860	0.45867	D	0.000326	T	0.81192	0.4771	M	0.72353	2.195	0.35907	D	0.830827	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.934	D	0.83467	0.0057	10	0.35671	T	0.21	.	18.6597	0.91468	0.0:1.0:0.0:0.0	.	806;653;678	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Q	653;678;678;653;653;806;678	ENSP00000317421:R653Q;ENSP00000348793:R678Q;ENSP00000386834:R678Q;ENSP00000387207:R653Q	ENSP00000317421:R653Q	R	-	2	0	AFF3	99576597	0.286000	0.24305	0.977000	0.42913	0.753000	0.42808	3.017000	0.49615	2.426000	0.82243	0.561000	0.74099	CGG	AFF3	-	pfam_TF_AF4/FMR2		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100210165	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.990	T	T	100210165	C	T	100210165	3	4	13	1	0	0	0	0	1	0	0	0	358	652	23	2	1766	2	AFF3	2	100210165	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2992710	100210165	142989208	122	1566										
RGPD4	285190	genome.wustl.edu	37	chr2	108443522	108443522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtcgcctccgtgcagggctCcgccccgtcgcctcgaaagg	13	18	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:108443522C>A	ENST00000408999.3	+	1	130	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Missense_Mutation_p.S18Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	18					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGCAGGGCTCCGCCCCGTCG	0.711																																																	0													40	61	54					2																	108443522		692	1590	2282	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.53C>A	2.37:g.108443522C>A	ENSP00000386810:p.Ser18Tyr		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S18Y	ENST00000408999.3	37	c.53	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	3.221	-0.159604	0.06544	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.41065	1.01;1.02	2.33	1.42	0.22433	.	.	.	.	.	T	0.26666	0.0652	L	0.34521	1.04	0.19775	N	0.999957	P	0.44734	0.842	B	0.34779	0.189	T	0.07121	-1.0789	9	0.52906	T	0.07	-0.707	8.1253	0.30995	0.0:0.7483:0.2517:0.0	.	18	Q7Z3J3	RGPD4_HUMAN	Y	18	ENSP00000347081:S18Y;ENSP00000386810:S18Y	ENSP00000347081:S18Y	S	+	2	0	RGPD4	107809954	0.453000	0.25721	0.115000	0.21578	0.007000	0.05969	2.248000	0.43160	0.098000	0.17522	-1.174000	0.01732	TCC	RGPD4	-	NULL		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108443522	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.587	A	A	108443522	C	A	108443522	3	1	13	1	0	0	0	0	1	0	0	0	13318	855	30	3	55	3	RGPD4	2	108443522	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8233357	108443522	134755851	123	1567										
MERTK	10461	genome.wustl.edu	37	chr2	112785945	112785945	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggtatgaaataatgtactCttgctggagaaccgatccct	9	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:112785945C>G	ENST00000295408.4	+	19	2761	c.2504C>G	c.(2503-2505)tCt>tGt	p.S835C	MERTK_ENST00000421804.2_Missense_Mutation_p.S835C|MERTK_ENST00000409780.1_Missense_Mutation_p.S659C			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATAATGTACTCTTGCTGGAGA	0.438																																																	0													48	53	51					2																	112785945		2203	4300	6503	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2504C>G	2.37:g.112785945C>G	ENSP00000295408:p.Ser835Cys		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S835C	ENST00000295408.4	37	c.2504	CCDS2094.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908446|2.908446	0.52333|0.52333	.|.	.|.	ENSG00000153208|ENSG00000153208	ENST00000393237|ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	.|D;D;D;D	.|0.83591	.|-1.74;-1.74;-1.74;-1.74	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.33075	.|U	.|0.005309	D|D	0.87928|0.87928	0.6301|0.6301	L|L	0.45470|0.45470	1.425|1.425	0.09310|0.09310	N|N	0.999993|0.999993	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.81385|0.81385	-0.0957|-0.0957	6|10	0.29301|0.66056	T|D	0.29|0.02	-17.4451|-17.4451	13.955|13.955	0.64142|0.64142	0.2672:0.7328:0.0:0.0|0.2672:0.7328:0.0:0.0	.|.	.|835	.|Q12866	.|MERTK_HUMAN	V|C	495|835;835;659;159	.|ENSP00000295408:S835C;ENSP00000389152:S835C;ENSP00000387277:S659C;ENSP00000412660:S159C	ENSP00000376929:L495V|ENSP00000295408:S835C	L|S	+|+	1|2	0|0	MERTK|MERTK	112502416|112502416	0.060000|0.060000	0.20803|0.20803	0.963000|0.963000	0.40424|0.40424	0.925000|0.925000	0.55904|0.55904	2.826000|2.826000	0.48104|0.48104	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	CTT|TCT	MERTK	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.438	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	C			112785945	1	no_errors	ENST00000295408	ensembl	human	known	70_37	missense	SNP	0.013	G	G	112785945	C	G	112785945	3	3	13	1	0	0	0	0	1	0	0	0	9502	913	32	1	2578	1	MERTK	2	112785945	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4342423	112785945	130413428	124	1568										
RGPD5	727851	genome.wustl.edu	37	chr2	113157331	113157331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgtgcgtcttcttcatattCaacaatttctgatgcctaaa	6	9	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:113157331C>G	ENST00000302558.3	-	14	2124	c.1933G>C	c.(1933-1935)Gaa>Caa	p.E645Q	RGPD8_ENST00000330575.5_Missense_Mutation_p.E645Q|RGPD8_ENST00000409750.1_Missense_Mutation_p.E505Q	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	645					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTTCATATTCAACAATTTCT	0.289																																																	0																																										SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.1933G>C	2.37:g.113157331C>G	ENSP00000306637:p.Glu645Gln		Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E645Q	ENST00000302558.3	37	c.1933	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445510	0.25987	.	.	ENSG00000169629	ENST00000302558;ENST00000409750;ENST00000330575	T;T;T	0.57273	1.01;1.0;0.41	2.35	2.35	0.29111	.	.	.	.	.	T	0.53254	0.1785	L	0.54323	1.7	0.25622	N	0.986382	P;B	0.36162	0.54;0.032	B;B	0.43728	0.429;0.032	T	0.48456	-0.9034	9	0.46703	T	0.11	-8.075	10.4068	0.44266	0.0:1.0:0.0:0.0	.	645;645	F8W705;O14715	.;RGPD8_HUMAN	Q	645;505;645	ENSP00000306637:E645Q;ENSP00000386511:E505Q;ENSP00000327486:E645Q	ENSP00000306637:E645Q	E	-	1	0	RGPD8	112873802	0.998000	0.40836	0.820000	0.32676	0.158000	0.22134	4.854000	0.62918	1.313000	0.45069	0.184000	0.17185	GAA	RGPD8	-	NULL		0.289	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113157331	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	missense	SNP	0.891	G	G	113157331	C	G	113157331	3	3	13	1	0	0	0	0	1	0	0	0	13319	835	29	1	14418	1	RGPD5	2	113157331	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	371386	113157331	130042042	125	1569										
CKAP2L	150468	genome.wustl.edu	37	chr2	113514048	113514048	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctattaacctttatatctttGatgttcttgactactggttt	5	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:113514048G>C	ENST00000302450.6	-	4	978	c.900C>G	c.(898-900)atC>atG	p.I300M	CKAP2L_ENST00000541405.1_Missense_Mutation_p.I135M|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	300						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTATATCTTTGATGTTCTTGA	0.403																																																	0													98	101	100					2																	113514048		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.900C>G	2.37:g.113514048G>C	ENSP00000305204:p.Ile300Met		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.I300M	ENST00000302450.6	37	c.900	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	G	4.534	0.099220	0.08681	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.13196	2.61;3.26	2.84	-1.46	0.08800	.	0.968737	0.08533	N	0.931696	T	0.12603	0.0306	L	0.51422	1.61	0.09310	N	1	P	0.39157	0.662	B	0.40009	0.316	T	0.25984	-1.0116	10	0.48119	T	0.1	.	4.0475	0.09779	0.0:0.1671:0.4645:0.3684	.	300	Q8IYA6	CKP2L_HUMAN	M	135;300	ENSP00000438763:I135M;ENSP00000305204:I300M	ENSP00000305204:I300M	I	-	3	3	CKAP2L	113230519	0.075000	0.21258	0.000000	0.03702	0.007000	0.05969	-0.793000	0.04589	-0.261000	0.09405	-0.535000	0.04281	ATC	CKAP2L	-	NULL		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	G	NM_152515		113514048	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	missense	SNP	0.000	C	C	113514048	G	C	113514048	3	2	13	1	0	0	0	0	1	0	0	0	3448	1280	45	1	1361	1	CKAP2L	2	113514048	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	356717	113514048	129685325	126	1570										
CKAP2L	150468	genome.wustl.edu	37	chr2	113514124	113514124	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtgagagggaaccgtccttGagggttttactcctggtctt	13	8	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:113514124G>A	ENST00000302450.6	-	4	902	c.824C>T	c.(823-825)tCa>tTa	p.S275L	CKAP2L_ENST00000541405.1_Missense_Mutation_p.S110L|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	275						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AACCGTCCTTGAGGGTTTTAC	0.398																																																	0													111	113	112					2																	113514124		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.824C>T	2.37:g.113514124G>A	ENSP00000305204:p.Ser275Leu		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.S275L	ENST00000302450.6	37	c.824	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578896	0.13686	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.15139	2.45;3.1	5.35	-1.0	0.10196	.	1.741800	0.02687	N	0.110246	T	0.13415	0.0325	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21518	-1.0243	10	0.31617	T	0.26	5.8616	0.8848	0.01242	0.2314:0.1293:0.3736:0.2657	.	275	Q8IYA6	CKP2L_HUMAN	L	110;275	ENSP00000438763:S110L;ENSP00000305204:S275L	ENSP00000305204:S275L	S	-	2	0	CKAP2L	113230595	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.428000	0.06991	-0.291000	0.09012	0.585000	0.79938	TCA	CKAP2L	-	NULL		0.398	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	G	NM_152515		113514124	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113514124	G	A	113514124	3	1	13	1	0	0	0	0	1	0	0	0	3448	1294	45	1	1437	1	CKAP2L	2	113514124	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	76	113514124	129685249	127	1571										
TUBA3E	112714	genome.wustl.edu	37	chr2	130949475	130949475	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttcacaatccttctctaGagctgccaggtcctcgcggg	9	15	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:130949475G>A	ENST00000312988.7	-	5	1382	c.1282C>T	c.(1282-1284)Cta>Tta	p.L428L		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	428					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCCTTCTCTAGAGCTGCCAGG	0.587																																																	0													129	132	131					2																	130949475		2203	4300	6503	SO:0001819	synonymous_variant	112714			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1282C>T	2.37:g.130949475G>A				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.L428	ENST00000312988.7	37	c.1282	CCDS2158.1	2																																																																																			TUBA3E	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin		0.587	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	G	NM_207312		130949475	-1	no_errors	ENST00000312988	ensembl	human	known	70_37	silent	SNP	0.998	A	A	130949475	G	A	130949475	2	1	13	1	0	0	0	0	0	0	0	1	16779	933	33	1		1	TUBA3E	2	130949475	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	17435351	130949475	112249898	128	1572										
ACMSD	130013	genome.wustl.edu	37	chr2	135628535	135628535	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgactatttcctctttcagGaatgccagcagagaccacca	8	12	2	2	rs267598886		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:135628535G>A	ENST00000356140.5	+	7	717	c.581G>A	c.(580-582)gGa>gAa	p.G194E	AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000392928.1_Splice_Site_p.G136E|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000283054.4_Splice_Site_p.G136E|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	194					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCTCTTTCAGGAATGCCAGCA	0.453																																																	0													132	111	118					2																	135628535		2203	4300	6503	SO:0001630	splice_region_variant	130013			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.581-1G>A	2.37:g.135628535G>A			Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	pfam_Amidohydro_2	p.G194E	ENST00000356140.5	37	c.581	CCDS2173.2	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895995	0.91962	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.89880	0.6843	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92706	0.6179	8	.	.	.	.	19.529	0.95219	0.0:0.0:1.0:0.0	.	136;194	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	E	194;136;136	.	.	G	+	2	0	ACMSD	135345005	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.777000	0.99008	2.604000	0.88044	0.585000	0.79938	GGA	ACMSD	-	pfam_Amidohydro_2		0.453	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACMSD	HGNC	protein_coding	OTTHUMT00000254627.1	G		Missense_Mutation	135628535	1	no_errors	ENST00000356140	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135628535	G	A	135628535	5	1	13	1	0	0	0	0	0	0	1	0	144	1188	41	1	607	1	ACMSD	2	135628535	Splice_Site	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4679060	135628535	107570838	129	1573										
UBXN4	23190	genome.wustl.edu	37	chr2	136528140	136528140	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaaactttttctttaattcaGagagaaattaagaaggaaat	6	3	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:136528140G>C	ENST00000272638.9	+	8	968		c.e8-1		UBXN4_ENST00000490163.1_Splice_Site	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4						response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTTAATTCAGAGAGAAATTA	0.289																																																	0													29	27	28					2																	136528140		1783	4051	5834	SO:0001630	splice_region_variant	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.658-1G>C	2.37:g.136528140G>C			A8K9W4|Q4ZG56|Q8IYM5	Splice_Site	SNP	-	e8-1	ENST00000272638.9	37	c.658-1	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123261	0.77436	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4715	0.94965	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBXN4	136244610	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.858000	0.86971	2.606000	0.88127	0.585000	0.79938	.	UBXN4	-	-		0.289	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	G	NM_014607	Intron	136528140	1	no_errors	ENST00000272638	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	136528140	G	C	136528140	5	2	13	1	0	0	0	0	0	0	1	0	16947	956	33	1	687	1	UBXN4	2	136528140	Splice_Site	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	899605	136528140	106671233	130	1574										
LCT	3938	genome.wustl.edu	37	chr2	136575357	136575357	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctccagcgtcgcttggccctCagtggtgttcaggggcctgc	14	14	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:136575357C>T	ENST00000264162.2	-	6	1271	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	421	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E421K(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCTTGGCCCTCAGTGGTGTTC	0.642																																																	1	Substitution - Missense(1)	lung(1)											68	65	66					2																	136575357		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1261G>A	2.37:g.136575357C>T	ENSP00000264162:p.Glu421Lys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E421K	ENST00000264162.2	37	c.1261	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	6.062	0.379846	0.11466	.	.	ENSG00000115850	ENST00000264162	T	0.31769	1.48	5.77	-3.96	0.04106	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.117000	0.01277	N	0.009628	T	0.12902	0.0313	N	0.04260	-0.245	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.32929	-0.9888	10	0.06625	T	0.88	-0.8159	8.82	0.35020	0.0:0.4248:0.2921:0.2831	.	421	P09848	LPH_HUMAN	K	421	ENSP00000264162:E421K	ENSP00000264162:E421K	E	-	1	0	LCT	136291827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.741000	0.04855	-0.278000	0.09180	-0.302000	0.09304	GAG	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.642	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136575357	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	missense	SNP	0.000	T	T	136575357	C	T	136575357	3	4	13	1	0	0	0	0	1	0	0	0	8713	835	29	1	4570	1	LCT	2	136575357	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	47217	136575357	106624016	131	1575										
ZEB2	9839	genome.wustl.edu	37	chr2	145147383	145147383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgccctttctcgcgcgcctCgcgctccgccgcttcccgct	10	21	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:145147383C>T	ENST00000558170.2	-	10	4464	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	cervix(1)											48	49	48					2																	145147383		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3280G>A	2.37:g.145147383C>T	ENSP00000454157:p.Glu1094Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1094K	ENST00000558170.2	37	c.3280	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.783312	0.96937	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14144	2.53;2.53;2.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;B;B	0.83275	0.996;0.444;0.444	T	0.08743	-1.0707	10	0.87932	D	0	-12.297	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1070;1093;1094	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1070;1094;1094	ENSP00000443792:E1070K;ENSP00000302501:E1094K;ENSP00000386854:E1094K	ENSP00000302501:E1094K	E	-	1	0	ZEB2	144863853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL		0.617	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147383	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145147383	C	T	145147383	3	4	13	1	0	0	0	0	1	0	0	0	17654	893	31	1	368	1	ZEB2	2	145147383	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8572026	145147383	98051990	132	1576										
PRPF40A	55660	genome.wustl.edu	37	chr2	153533990	153533990	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttcagctttgatcattgCtattaaagagagaaaaaaag	7	5	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:153533990C>T	ENST00000410080.1	-	9	1173		c.e9-1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTGATCATTGCTATTAAAGAG	0.264																																																	0													35	33	34					2																	153533990		1776	4041	5817	SO:0001630	splice_region_variant	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.632-1G>A	2.37:g.153533990C>T			O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	SNP	-	e9-1	ENST00000410080.1	37	c.632-1	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229088	0.79688	.	.	ENSG00000196504	ENST00000410080;ENST00000545856;ENST00000493468	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6829	0.88249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRPF40A	153242236	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.343000	0.72986	2.602000	0.87976	0.591000	0.81541	.	PRPF40A	-	-		0.264	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	C	XM_371575	Intron	153533990	-1	no_errors	ENST00000410080	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	153533990	C	T	153533990	5	4	13	1	0	0	0	0	0	0	1	0	12598	811	28	4	2233	4	PRPF40A	2	153533990	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8386607	153533990	89665383	133	1577										
LY75	4065	genome.wustl.edu	37	chr2	160741792	160741792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggagccacctatagtaggtGcactgggcctgtcttaaaag	12	9	1	0	rs370167372		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:160741792G>A	ENST00000263636.4	-	6	953	c.926C>T	c.(925-927)gCa>gTa	p.A309V	LY75_ENST00000554112.1_Missense_Mutation_p.A309V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.A309V|LY75_ENST00000553424.1_Missense_Mutation_p.A309V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.A309V	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	309	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A309E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TATAGTAGGTGCACTGGGCCT	0.438																																																	1	Substitution - Missense(1)	NS(1)						G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	100	103	102		926,926,926	4.9	0	2		102	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	64,64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	309/1874,309/1818,309/1723	160741792	2,13004	2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.926C>T	2.37:g.160741792G>A	ENSP00000263636:p.Ala309Val		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.A309V	ENST00000263636.4	37	c.926	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045242	0.55110	0.0	2.33E-4	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.77	4.88	0.63580	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.252121	0.20877	N	0.084076	T	0.38799	0.1054	N	0.24115	0.695	0.09310	N	1	P;P;P	0.43662	0.666;0.555;0.814	B;B;B	0.42214	0.228;0.257;0.38	T	0.19353	-1.0308	10	0.38643	T	0.18	-0.8604	8.7891	0.34839	0.0768:0.0:0.7719:0.1513	.	309;309;309	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	V	309	ENSP00000451511:A309V;ENSP00000451446:A309V;ENSP00000263636:A309V;ENSP00000423463:A309V;ENSP00000421035:A309V	ENSP00000423463:A309V	A	-	2	0	LY75;LY75-CD302	160450038	0.452000	0.25713	0.006000	0.13384	0.395000	0.30598	2.235000	0.43044	1.416000	0.47057	0.650000	0.86243	GCA	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.438	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	G			160741792	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	missense	SNP	0.018	A	A	160741792	G	A	160741792	3	1	13	1	0	0	0	0	1	0	0	0	9122	1319	46	4	4362	4	LY75	2	160741792	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7207802	160741792	82457581	134	1578										
FAP	2191	genome.wustl.edu	37	chr2	163031423	163031423	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccactgctataccacatttGaaaagaccagttccagatgc	7	12	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:163031423G>A	ENST00000188790.4	-	22	2130	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	FAP_ENST00000443424.1_Silent_p.F616F|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACCACATTTGAAAAGACCAG	0.403																																																	0													121	107	111					2																	163031423		2203	4300	6503	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1923C>T	2.37:g.163031423G>A				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.F641	ENST00000188790.4	37	c.1923	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9		0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163031423	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	silent	SNP	1.000	A	A	163031423	G	A	163031423	2	1	13	1	0	0	0	0	0	0	0	1	5691	1281	45	1		1	FAP	2	163031423	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2289631	163031423	80167950	135	1579										
FAP	2191	genome.wustl.edu	37	chr2	163045640	163045640	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttagcaagggatacttctttGatctgtcaaattgaggagga	11	5	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:163045640G>A	ENST00000188790.4	-	19	1799	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	FAP_ENST00000443424.1_Missense_Mutation_p.S506L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATACTTCTTTGATCTGTCAAA	0.294																																																	0													73	76	75					2																	163045640		2203	4292	6495	SO:0001583	missense	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1592C>T	2.37:g.163045640G>A	ENSP00000188790:p.Ser531Leu			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S531L	ENST00000188790.4	37	c.1592	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087995	0.76642	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.47528	0.84;0.84	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.90082	3.085	0.58432	D	0.999997	P;P;D	0.60575	0.935;0.795;0.988	P;B;P	0.56088	0.598;0.277;0.791	T	0.77600	-0.2527	10	0.66056	D	0.02	-6.9702	17.3855	0.87414	0.0:0.0:1.0:0.0	.	506;10;531	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	L	531;506	ENSP00000188790:S531L;ENSP00000411391:S506L	ENSP00000188790:S531L	S	-	2	0	FAP	162753886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.164000	0.89661	2.537000	0.85549	0.650000	0.86243	TCA	FAP	-	NULL		0.294	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163045640	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	missense	SNP	1.000	A	A	163045640	G	A	163045640	3	1	13	1	0	0	0	0	1	0	0	0	5691	1294	45	1	722	1	FAP	2	163045640	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	14217	163045640	80153733	136	1580										
ABCB11	8647	genome.wustl.edu	37	chr2	169825872	169825872	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcacttgccctttatgtcctCttcattaagagcttgatttc	6	11	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:169825872C>G	ENST00000263817.6	-	16	2123	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	667	Interaction with HAX1. {ECO:0000250}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTATGTCCTCTTCATTAAGA	0.368																																																	0													127	116	120					2																	169825872		1867	4091	5958	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1999G>C	2.37:g.169825872C>G	ENSP00000263817:p.Glu667Gln		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E667Q	ENST00000263817.6	37	c.1999	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713121	0.30413	.	.	ENSG00000073734	ENST00000263817	D	0.87256	-2.23	5.32	-2.04	0.07343	.	3.931360	0.00757	N	0.001116	T	0.81711	0.4880	L	0.29908	0.895	0.09310	N	1	B;B	0.20261	0.043;0.018	B;B	0.20955	0.032;0.021	T	0.66662	-0.5867	10	0.37606	T	0.19	.	12.0664	0.53590	0.0:0.2898:0.0:0.7102	.	109;667	B4DZQ8;O95342	.;ABCBB_HUMAN	Q	667	ENSP00000263817:E667Q	ENSP00000263817:E667Q	E	-	1	0	ABCB11	169534118	0.003000	0.15002	0.001000	0.08648	0.185000	0.23345	1.206000	0.32321	-0.255000	0.09486	0.585000	0.79938	GAG	ABCB11	-	NULL		0.368	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	C	NM_003742		169825872	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	missense	SNP	0.000	G	G	169825872	C	G	169825872	3	3	13	1	0	0	0	0	1	0	0	0	42	922	32	1	2018	1	ABCB11	2	169825872	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6780232	169825872	73373501	137	1581										
LRP2	4036	genome.wustl.edu	37	chr2	170135983	170135983	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttaccatatctatgcggttGaccttggtttccactagata	7	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:170135983G>A	ENST00000263816.3	-	12	1749	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	LRP2_ENST00000443831.1_Silent_p.V488V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	488					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CTATGCGGTTGACCTTGGTTT	0.423																																																	0													121	126	124					2																	170135983		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1464C>T	2.37:g.170135983G>A			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V488	ENST00000263816.3	37	c.1464	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170135983	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	1.000	A	A	170135983	G	A	170135983	2	1	13	1	0	0	0	0	0	0	0	1	8979	1277	45	1		1	LRP2	2	170135983	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	310111	170135983	73063390	138	1582										
HAT1	8520	genome.wustl.edu	37	chr2	172823389	172823389	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgctgattttgactccatttCaaggtcaaggccatggtgct	10	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:172823389C>T	ENST00000264108.4	+	8	778	c.742C>T	c.(742-744)Caa>Taa	p.Q248*	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Nonsense_Mutation_p.Q163*	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	248	Acetyl-CoA binding. {ECO:0000269|PubMed:22615379}.				chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GACTCCATTTCAAGGTCAAGG	0.313																																																	0													95	92	93					2																	172823389		2203	4298	6501	SO:0001587	stop_gained	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.742C>T	2.37:g.172823389C>T	ENSP00000264108:p.Gln248*		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Nonsense_Mutation	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.Q248*	ENST00000264108.4	37	c.742	CCDS2245.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.589130	0.96590	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1621	20.0755	0.97742	0.0:1.0:0.0:0.0	.	.	.	.	X	163;248	.	ENSP00000264108:Q248X	Q	+	1	0	HAT1	172531635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.601000	0.82783	2.749000	0.94314	0.460000	0.39030	CAA	HAT1	-	superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su		0.313	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	C	NM_003642		172823389	1	no_errors	ENST00000264108	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	172823389	C	T	172823389	4	4	13	1	0	0	0	0	0	1	0	0	6984	827	29	1	772	1	HAT1	2	172823389	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2687406	172823389	70375984	139	1583										
WIPF1	7456	genome.wustl.edu	37	chr2	175431874	175431874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggctctggaggtggcaaatcGgaaatcggatggaagtagaa	16	5	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:175431874G>A	ENST00000392547.2	-	7	1479	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Silent_p.S460S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.S460S|WIPF1_ENST00000409891.1_Silent_p.S460S|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Silent_p.S460S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	460					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GTGGCAAATCGGAAATCGGAT	0.443																																																	0													134	133	133					2																	175431874		2203	4300	6503	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1380C>T	2.37:g.175431874G>A			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.S460	ENST00000392547.2	37	c.1380	CCDS2260.1	2																																																																																			WIPF1	-	NULL		0.443	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175431874	-1	no_errors	ENST00000272746	ensembl	human	known	70_37	silent	SNP	0.997	A	A	175431874	G	A	175431874	2	1	13	1	0	0	0	0	0	0	0	1	17398	1103	39	2		2	WIPF1	2	175431874	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2608485	175431874	67767499	140	1584										
TTN	7273	genome.wustl.edu	37	chr2	179395364	179395364	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggaaatgcccattttccttCagtttcttgccatctttata	5	10	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179395364C>G	ENST00000591111.1	-	308	101279	c.101055G>C	c.(101053-101055)ctG>ctC	p.L33685L	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000589042.1_Silent_p.L35326L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.L32758L|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L26453L|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Silent_p.L26386L|TTN_ENST00000460472.2_Silent_p.L26261L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33685	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTCCTTCAGTTTCTTGC	0.393																																																	0													111	100	104					2																	179395364		1867	4110	5977	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101055G>C	2.37:g.179395364C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L32758	ENST00000591111.1	37	c.98274		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179395364	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	G	G	179395364	C	G	179395364	2	3	13	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179395364	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3963490	179395364	63804009	141	1585										
TTN	7273	genome.wustl.edu	37	chr2	179463947	179463947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atttattctgggccatgattCggaatacatattcatggcct	8	8	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179463947C>A	ENST00000591111.1	-	240	51874	c.51650G>T	c.(51649-51651)cGa>cTa	p.R17217L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18858L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16290L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9985L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9918L|TTN_ENST00000460472.2_Missense_Mutation_p.R9793L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17217	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R9793L(1)|p.R9985L(1)|p.R16288L(1)|p.R16290L(1)|p.R9918L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCATGATTCGGAATACATA	0.433																																																	5	Substitution - Missense(5)	lung(5)											225	217	219					2																	179463947		1891	4106	5997	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51650G>T	2.37:g.179463947C>A	ENSP00000465570:p.Arg17217Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R16290L	ENST00000591111.1	37	c.48869		2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814627	0.50527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.98	5.11	0.69529	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78007	0.4216	M	0.91510	3.215	0.46654	D	0.999142	D;D;D;D	0.56521	0.976;0.976;0.976;0.976	P;P;P;P	0.57960	0.83;0.83;0.83;0.83	D	0.84034	0.0361	9	0.87932	D	0	.	15.367	0.74531	0.0:0.9331:0.0:0.0669	.	9793;9918;9985;17217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16290;9793;9985;9918;9791	ENSP00000343764:R16290L;ENSP00000434586:R9793L;ENSP00000340554:R9985L;ENSP00000352154:R9918L	ENSP00000340554:R9985L	R	-	2	0	TTN	179172192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	1.543000	0.49345	0.650000	0.86243	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179463947	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179463947	C	A	179463947	3	1	13	1	0	0	0	0	1	0	0	0	16766	884	31	3	51412	3	TTN	2	179463947	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	68583	179463947	63735426	142	1586										
TTN	7273	genome.wustl.edu	37	chr2	179472971	179472971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccaggtccagctgcattttCagcacatactctgaagacat	7	12	2	2	rs375589580		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179472971C>T	ENST00000591111.1	-	225	47940	c.47716G>A	c.(47716-47718)Gaa>Aaa	p.E15906K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17547K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14979K|TTN_ENST00000342175.6_Missense_Mutation_p.E8674K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8607K|TTN_ENST00000460472.2_Missense_Mutation_p.E8482K|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15906	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGCATTTTCAGCACATACT	0.428																																																	0													68	63	65					2																	179472971		1923	4134	6057	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47716G>A	2.37:g.179472971C>T	ENSP00000465570:p.Glu15906Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E14979K	ENST00000591111.1	37	c.44935		2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933144	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69967	0.3170	L	0.52759	1.655	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70912	-0.4743	9	0.87932	D	0	.	19.8731	0.96858	0.0:1.0:0.0:0.0	.	8482;8607;8674;15906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14979;8482;8674;8607;8482	ENSP00000343764:E14979K;ENSP00000434586:E8482K;ENSP00000340554:E8674K;ENSP00000352154:E8607K	ENSP00000340554:E8674K	E	-	1	0	TTN	179181216	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	7.818000	0.86416	2.699000	0.92147	0.563000	0.77884	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179472971	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179472971	C	T	179472971	3	4	13	1	0	0	0	0	1	0	0	0	16766	835	29	1	55406	1	TTN	2	179472971	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9024	179472971	63726402	143	1587										
TTN	7273	genome.wustl.edu	37	chr2	179476178	179476178	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcattgactgctctcactctCaggacatattctttgtcagg	8	11	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179476178C>G	ENST00000591111.1	-	219	46079	c.45855G>C	c.(45853-45855)ctG>ctC	p.L15285L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.L16926L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L14358L|TTN_ENST00000342175.6_Silent_p.L8053L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.L7986L|TTN_ENST00000460472.2_Silent_p.L7861L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15285	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L14358L(1)|p.L7861L(1)|p.L8053L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCACTCTCAGGACATATT	0.428																																																	3	Substitution - coding silent(3)	breast(3)											97	95	96					2																	179476178		2022	4188	6210	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45855G>C	2.37:g.179476178C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L14358	ENST00000591111.1	37	c.43074		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179476178	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	G	G	179476178	C	G	179476178	2	3	13	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179476178	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3207	179476178	63723195	144	1588										
TTN	7273	genome.wustl.edu	37	chr2	179587434	179587434	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcagttcctatactattttCtgctttgcatgtgtactctc	6	10	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179587434C>T	ENST00000591111.1	-	74	21465	c.21241G>A	c.(21241-21243)Gaa>Aaa	p.E7081K	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E7398K|TTN_ENST00000342992.6_Missense_Mutation_p.E6154K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12662	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTATTTTCTGCTTTGCAT	0.338																																																	0													43	44	44					2																	179587434		1855	4108	5963	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21241G>A	2.37:g.179587434C>T	ENSP00000465570:p.Glu7081Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E6154K	ENST00000591111.1	37	c.18460		2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837699	0.32513	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62962	0.2471	L	0.39020	1.185	0.80722	D	1	P	0.44281	0.831	B	0.40982	0.345	T	0.67098	-0.5756	9	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	7081	Q8WZ42	TITIN_HUMAN	K	6154	ENSP00000343764:E6154K	ENSP00000343764:E6154K	E	-	1	0	TTN	179295679	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.942000	0.56614	2.821000	0.97095	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179587434	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179587434	C	T	179587434	3	4	13	1	0	0	0	0	1	0	0	0	16766	922	32	1	82485	1	TTN	2	179587434	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	111256	179587434	63611939	145	1589										
ITGA4	3676	genome.wustl.edu	37	chr2	182363438	182363438	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctaatggaacttctgacgtGattacaggaagcatacaggt	10	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:182363438G>A	ENST00000397033.2	+	15	2059	c.1629G>A	c.(1627-1629)gtG>gtA	p.V543V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	543					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CTTCTGACGTGATTACAGGAA	0.358																																																	0													98	95	96					2																	182363438		2009	4179	6188	SO:0001819	synonymous_variant	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1629G>A	2.37:g.182363438G>A			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V543	ENST00000397033.2	37	c.1629	CCDS42788.1	2																																																																																			ITGA4	-	pfam_Integrin_alpha-2		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182363438	1	no_errors	ENST00000397033	ensembl	human	known	70_37	silent	SNP	0.367	A	A	182363438	G	A	182363438	2	1	13	1	0	0	0	0	0	0	0	1	7898	1277	45	1		1	ITGA4	2	182363438	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2776004	182363438	60835935	146	1590										
FSIP2	401024	genome.wustl.edu	37	chr2	186657507	186657507	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagcaaatgtttcttctcatGaacacacctataaaggaaag	6	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:186657507G>T	ENST00000424728.1	+	16	5644	c.5644G>T	c.(5644-5646)Gaa>Taa	p.E1882*	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E1971*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1882										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCTTCTCATGAACACACCTA	0.368																																																	0																																										SO:0001587	stop_gained	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5644G>T	2.37:g.186657507G>T	ENSP00000401306:p.Glu1882*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.E1971*	ENST00000424728.1	37	c.5911		2	.	.	.	.	.	.	.	.	.	.	G	41	8.591754	0.98877	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	.	.	.	5.2	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.7072	0.28657	0.1867:0.0:0.8133:0.0	.	.	.	.	X	1971;1882;1882	.	ENSP00000321903:E1882X	E	+	1	0	FSIP2	186365752	0.090000	0.21635	0.003000	0.11579	0.143000	0.21401	1.893000	0.39758	0.792000	0.33850	0.650000	0.86243	GAA	FSIP2	-	NULL		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186657507	1	no_errors	ENST00000343098	ensembl	human	known	70_37	nonsense	SNP	0.003	T	T	186657507	G	T	186657507	4	4	13	1	0	0	0	0	0	1	0	0	6093	1291	45	3	5973	3	FSIP2	2	186657507	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4294069	186657507	56541866	147	1591										
STAT1	6772	genome.wustl.edu	37	chr2	191841680	191841680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agccatgactttgtaattgcGaatgatgtcagggaaagtaa	11	5	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:191841680G>A	ENST00000361099.3	-	22	2332	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	STAT1_ENST00000392322.3_Missense_Mutation_p.R649C|STAT1_ENST00000409465.1_Missense_Mutation_p.R649C|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.R651C	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	649	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTGTAATTGCGAATGATGTCA	0.403																																																	0													118	111	114					2																	191841680		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1945C>T	2.37:g.191841680G>A	ENSP00000354394:p.Arg649Cys		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R649C	ENST00000361099.3	37	c.1945	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545441	0.86022	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.47	5.47	0.80525	SH2 motif (3);	0.046236	0.85682	D	0.000000	D	0.98197	0.9404	M	0.69358	2.11	0.80722	D	1	D;P	0.89917	1.0;0.892	D;P	0.83275	0.996;0.48	D	0.98519	1.0622	10	0.59425	D	0.04	-20.2056	19.5104	0.95139	0.0:0.0:1.0:0.0	.	649;649	P42224-2;P42224	.;STAT1_HUMAN	C	649;649;649;651	ENSP00000354394:R649C;ENSP00000386244:R649C;ENSP00000376136:R649C;ENSP00000376137:R651C	ENSP00000354394:R649C	R	-	1	0	STAT1	191549925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.412000	0.73303	2.847000	0.97988	0.655000	0.94253	CGC	STAT1	-	pfscan_SH2		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	G	NM_007315		191841680	-1	no_errors	ENST00000361099	ensembl	human	known	70_37	missense	SNP	1.000	A	A	191841680	G	A	191841680	3	1	13	1	0	0	0	0	1	0	0	0	15294	1058	37	1	327	1	STAT1	2	191841680	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5184173	191841680	51357693	148	1592										
DNAH7	56171	genome.wustl.edu	37	chr2	196849388	196849388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagttctgctgtatttggagGagtgctaagagctttttcag	12	5	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:196849388G>A	ENST00000312428.6	-	15	1901	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	601	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTATTTGGAGGAGTGCTAAGA	0.323																																																	0													139	128	131					2																	196849388		1835	4085	5920	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1801C>T	2.37:g.196849388G>A	ENSP00000311273:p.Pro601Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.P601S	ENST00000312428.6	37	c.1801	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638997	0.87760	.	.	ENSG00000118997	ENST00000312428	T	0.26810	1.71	5.35	5.35	0.76521	.	0.128949	0.52532	D	0.000077	T	0.58921	0.2156	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65804	-0.6079	10	0.66056	D	0.02	.	18.6408	0.91394	0.0:0.0:1.0:0.0	.	601	Q8WXX0	DYH7_HUMAN	S	601	ENSP00000311273:P601S	ENSP00000311273:P601S	P	-	1	0	DNAH7	196557633	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.505000	0.81655	2.503000	0.84419	0.655000	0.94253	CCT	DNAH7	-	NULL		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196849388	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.997	A	A	196849388	G	A	196849388	3	1	13	1	0	0	0	0	1	0	0	0	4616	1174	41	1	10477	1	DNAH7	2	196849388	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5007708	196849388	46349985	149	1593										
PGAP1	80055	genome.wustl.edu	37	chr2	197777621	197777621	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcacctgtaatgaaacgatCtaatggcatcacaggagcaa	8	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:197777621C>T	ENST00000354764.4	-	4	748	c.634G>A	c.(634-636)Gat>Aat	p.D212N	PGAP1_ENST00000409188.1_Missense_Mutation_p.D170N|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.D212N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	212					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATGAAACGATCTAATGGCATC	0.363																																																	0													110	106	107					2																	197777621		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.634G>A	2.37:g.197777621C>T	ENSP00000346809:p.Asp212Asn		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.D212N	ENST00000354764.4	37	c.634	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841128	0.91197	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	D;D;D	0.90444	-2.67;-2.67;-2.67	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.971;0.999	D	0.96687	0.9508	10	0.72032	D	0.01	-16.7316	19.0781	0.93171	0.0:1.0:0.0:0.0	.	170;212;212	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	N	212;212;170	ENSP00000346809:D212N;ENSP00000387028:D212N;ENSP00000386802:D170N	ENSP00000346809:D212N	D	-	1	0	PGAP1	197485866	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	6.886000	0.75611	2.741000	0.93983	0.650000	0.86243	GAT	PGAP1	-	pfam_PGAP1-like		0.363	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	C	NM_024989		197777621	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197777621	C	T	197777621	3	4	13	1	0	0	0	0	1	0	0	0	11801	913	32	1	2230	1	PGAP1	2	197777621	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	928233	197777621	45421752	150	1594										
C2orf60	129450	genome.wustl.edu	37	chr2	200808492	200808492	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgttaaaagcaattacctctGaaacaaagaattctttatgt	5	6	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:200808492G>C	ENST00000354611.4	-	3	564	c.299C>G	c.(298-300)tCa>tGa	p.S100*	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	100					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						AATTACCTCTGAAACAAAGAA	0.323																																																	0													47	45	46					2																	200808492		1798	4063	5861	SO:0001587	stop_gained	129450			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 60"	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.299C>G	2.37:g.200808492G>C	ENSP00000346627:p.Ser100*		B2RNE3|Q8N1R2	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S100*	ENST00000354611.4	37	c.299	CCDS42795.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.401619	0.97537	.	.	ENSG00000162971	ENST00000354611	.	.	.	5.57	5.57	0.84162	.	0.234941	0.27881	U	0.017477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.5403	0.95271	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000346627:S100X	S	-	2	0	TYW5	200516737	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.245000	0.72398	2.619000	0.88677	0.655000	0.94253	TCA	TYW5	-	NULL		0.323	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW5	HGNC	protein_coding	OTTHUMT00000256144.3	G	NM_001039693		200808492	-1	no_errors	ENST00000354611	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	200808492	G	C	200808492	4	2	13	1	0	0	0	0	0	1	0	0	2184	1294	45	1	672	1	C2orf60	2	200808492	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3030871	200808492	42390881	151	1595										
CASP8	841	genome.wustl.edu	37	chr2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccatctatgagctgacatctCagttcactggtttgaagtgc	9	10	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:202149751C>T	ENST00000432109.2	+	9	1204	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q398*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												1	Substitution - Nonsense(1)	breast(1)											137	122	127					2																	202149751		2203	4300	6503	SO:0001587	stop_gained	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1015C>T	2.37:g.202149751C>T	ENSP00000412523:p.Gln339*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q398*	ENST00000432109.2	37	c.1192	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854178	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.68	4.54	0.55810	.	0.380203	0.30556	N	0.009380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.8752	0.46906	0.0:0.075:0.0:0.925	.	.	.	.	X	324;255;339;356;398;324;118	.	ENSP00000264274:Q255X	Q	+	1	0	CASP8	201857996	0.217000	0.23597	1.000000	0.80357	0.645000	0.38454	3.232000	0.51302	1.004000	0.39156	-0.367000	0.07326	CAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202149751	1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.935	T	T	202149751	C	T	202149751	4	4	13	1	0	0	0	0	0	1	0	0	2682	827	29	1	1322	1	CASP8	2	202149751	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1341259	202149751	41049622	152	1596										
NBEAL1	65065	genome.wustl.edu	37	chr2	203948174	203948174	+	Missense_Mutation	SNP	A	A	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	taaattgctaaattcagatcAttcagctttacctaatcaaa							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:203948174A>T	ENST00000449802.1	+	9	1250	c.917A>T	c.(916-918)cAt>cTt	p.H306L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	306										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AATTCAGATCATTCAGCTTTA	0.368																																																	0													116	103	107					2																	203948174		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.917A>T	2.37:g.203948174A>T	ENSP00000399903:p.His306Leu		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H306L	ENST00000449802.1	37	c.917	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819358	0.32145	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.67698	-0.28	5.59	3.16	0.36331	Armadillo-type fold (1);	0.786246	0.11704	N	0.537695	T	0.52092	0.1713	N	0.25647	0.755	0.37957	D	0.932853	B	0.06786	0.001	B	0.10450	0.005	T	0.35624	-0.9781	10	0.13470	T	0.59	.	12.6011	0.56497	0.7378:0.2622:0.0:0.0	.	306	Q6ZS30	NBEL1_HUMAN	L	306	ENSP00000399903:H306L	ENSP00000344985:H306L	H	+	2	0	NBEAL1	203656419	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.437000	0.44828	0.378000	0.24764	-0.418000	0.06021	CAT	NBEAL1	-	superfamily_ARM-type_fold		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	A			203948174	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.999	T	T	203948174	A	T	203948174	3	4	13	1	0	0	0	0	1	0	0	0	10211	217	8	5	947	5	NBEAL1	2	203948174	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	1798423	203948174	39251199	153	1597	4	2								
NBEAL1	65065	genome.wustl.edu	37	chr2	203948177	203948177	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attgctaaattcagatcattCagctttacctaatcaaagga							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:203948177C>T	ENST00000449802.1	+	9	1253	c.920C>T	c.(919-921)tCa>tTa	p.S307L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	307										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGATCATTCAGCTTTACCT	0.368																																																	0													113	99	103					2																	203948177		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.920C>T	2.37:g.203948177C>T	ENSP00000399903:p.Ser307Leu		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S307L	ENST00000449802.1	37	c.920	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567113	0.65651	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.68181	-0.31	5.59	5.59	0.84812	Armadillo-type fold (1);	1.499520	0.03952	N	0.288605	T	0.66665	0.2812	L	0.47716	1.5	0.45194	D	0.998204	P	0.40578	0.722	B	0.33454	0.164	T	0.61481	-0.7054	10	0.48119	T	0.1	.	19.5944	0.95530	0.0:1.0:0.0:0.0	.	307	Q6ZS30	NBEL1_HUMAN	L	307	ENSP00000399903:S307L	ENSP00000344985:S307L	S	+	2	0	NBEAL1	203656422	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.805000	0.69143	2.627000	0.88993	0.563000	0.77884	TCA	NBEAL1	-	superfamily_ARM-type_fold		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			203948177	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	T	T	203948177	C	T	203948177	3	4	13	1	0	0	0	0	1	0	0	0	10211	838	29	1	950	1	NBEAL1	2	203948177	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3	203948177	39251196	154	1598	4	2								
NBEAL1	65065	genome.wustl.edu	37	chr2	203948191	203948191	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcattcagctttacctaatCaaaggaggtccagacagtgg	9	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:203948191C>T	ENST00000449802.1	+	9	1267	c.934C>T	c.(934-936)Caa>Taa	p.Q312*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	312										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTACCTAATCAAAGGAGGTC	0.363																																																	0													97	84	88					2																	203948191		692	1591	2283	SO:0001587	stop_gained	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.934C>T	2.37:g.203948191C>T	ENSP00000399903:p.Gln312*		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q312*	ENST00000449802.1	37	c.934	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	40	7.955792	0.98580	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.59	5.59	0.84812	.	0.248098	0.28442	N	0.015325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.8372	0.63417	0.0:0.9269:0.0:0.0731	.	.	.	.	X	312	.	ENSP00000344985:Q312X	Q	+	1	0	NBEAL1	203656436	0.118000	0.22208	0.993000	0.49108	0.842000	0.47809	0.763000	0.26517	2.627000	0.88993	0.563000	0.77884	CAA	NBEAL1	-	superfamily_ARM-type_fold		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			203948191	1	no_errors	ENST00000449802	ensembl	human	known	70_37	nonsense	SNP	0.991	T	T	203948191	C	T	203948191	4	4	13	1	0	0	0	0	0	1	0	0	10211	827	29	1	964	1	NBEAL1	2	203948191	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	14	203948191	39251182	155	1599										
DYTN	391475	genome.wustl.edu	37	chr2	207575289	207575289	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attgtaatttgaaggctgttCtataaatggaattctcaata	7	4	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:207575289C>T	ENST00000452335.2	-	2	169	c.53G>A	c.(52-54)aGa>aAa	p.R18K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	18						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAAGGCTGTTCTATAAATGGA	0.323																																																	0													74	69	71					2																	207575289		1822	4083	5905	SO:0001583	missense	391475			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.53G>A	2.37:g.207575289C>T	ENSP00000396593:p.Arg18Lys			Missense_Mutation	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.R18K	ENST00000452335.2	37	c.53	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686148	0.68157	.	.	ENSG00000232125	ENST00000452335	D	0.82433	-1.61	4.49	2.72	0.32119	EF-hand domain, type 1 (1);	.	.	.	.	T	0.73908	0.3647	L	0.29908	0.895	0.30815	N	0.738377	P	0.42785	0.79	B	0.40228	0.323	T	0.73078	-0.4096	9	0.87932	D	0	-6.6034	9.9277	0.41503	0.0:0.8359:0.0:0.1641	.	18	A2CJ06	DYTN_HUMAN	K	18	ENSP00000396593:R18K	ENSP00000396593:R18K	R	-	2	0	DYTN	207283534	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.929000	0.48916	0.841000	0.35020	-0.119000	0.15052	AGA	DYTN	-	pfam_EF-hand_dom_typ1		0.323	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	C			207575289	-1	no_errors	ENST00000452335	ensembl	human	known	70_37	missense	SNP	1.000	T	T	207575289	C	T	207575289	3	4	13	1	0	0	0	0	1	0	0	0	4871	913	32	1	1727	1	DYTN	2	207575289	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3627098	207575289	35624084	156	1600										
BARD1	580	genome.wustl.edu	37	chr2	215645790	215645790	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agttaaacttccaaaacattCagattctgtcaaggagccac							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:215645790C>T	ENST00000260947.4	-	4	942	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	BARD1_ENST00000449967.2_Missense_Mutation_p.E126K|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	270					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAACATTCAGATTCTGTC	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													62	65	64					2																	215645790		2203	4298	6501	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.808G>A	2.37:g.215645790C>T	ENSP00000260947:p.Glu270Lys		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.E270K	ENST00000260947.4	37	c.808	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186179	0.38609	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72942	-0.7;-0.06	5.61	2.72	0.32119	.	0.585027	0.18629	N	0.135625	T	0.62171	0.2406	L	0.54323	1.7	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.026	T	0.48127	-0.9062	10	0.27082	T	0.32	-17.2735	10.7027	0.45937	0.0:0.5547:0.3789:0.0664	.	126;270	E7EUI3;Q99728	.;BARD1_HUMAN	K	270;126	ENSP00000260947:E270K;ENSP00000406752:E126K	ENSP00000260947:E270K	E	-	1	0	BARD1	215354035	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.507000	0.22675	0.349000	0.23975	-0.172000	0.13284	GAA	BARD1	-	NULL		0.423	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	C	NM_000465		215645790	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	missense	SNP	0.002	T	T	215645790	C	T	215645790	3	4	13	1	0	0	0	0	1	0	0	0	1313	835	29	1	1557	1	BARD1	2	215645790	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8070501	215645790	27553583	157	1601	5	2								
BARD1	580	genome.wustl.edu	37	chr2	215645796	215645796	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acttccaaaacattcagattCtgtcaaggagccacttgcta							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:215645796C>T	ENST00000260947.4	-	4	936	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	BARD1_ENST00000449967.2_Missense_Mutation_p.E124K|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	268					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTCAGATTCTGTCAAGGAG	0.413									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													62	65	64					2																	215645796		2203	4298	6501	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.802G>A	2.37:g.215645796C>T	ENSP00000260947:p.Glu268Lys		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.E268K	ENST00000260947.4	37	c.802	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062784	0.76187	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.75260	-0.92;-0.46	5.61	4.73	0.59995	.	0.312414	0.34435	N	0.003974	D	0.84120	0.5402	M	0.71581	2.175	0.26556	N	0.973811	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77292	-0.2642	10	0.27082	T	0.32	-12.0695	15.102	0.72288	0.0:0.9315:0.0:0.0685	.	124;268	E7EUI3;Q99728	.;BARD1_HUMAN	K	268;124	ENSP00000260947:E268K;ENSP00000406752:E124K	ENSP00000260947:E268K	E	-	1	0	BARD1	215354041	0.832000	0.29368	0.027000	0.17364	0.022000	0.10575	2.575000	0.46025	1.501000	0.48654	0.650000	0.86243	GAA	BARD1	-	NULL		0.413	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	C	NM_000465		215645796	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	missense	SNP	0.408	T	T	215645796	C	T	215645796	3	4	13	1	0	0	0	0	1	0	0	0	1313	922	32	1	1563	1	BARD1	2	215645796	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6	215645796	27553577	158	1602	5	2								
ABCA12	26154	genome.wustl.edu	37	chr2	215876202	215876202	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atattttgaagcaatttgctCtttagttaatttataagtca	5	4	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:215876202C>G	ENST00000272895.7	-	17	2512	c.2293G>C	c.(2293-2295)Gag>Cag	p.E765Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E447Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	765					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCAATTTGCTCTTTAGTTAAT	0.353																																					Ovarian(66;664 1488 5121 34295)												0													60	67	64					2																	215876202		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2293G>C	2.37:g.215876202C>G	ENSP00000272895:p.Glu765Gln		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E765Q	ENST00000272895.7	37	c.2293	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093662	0.20471	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85339	-1.97;-1.97	5.25	0.264	0.15607	.	0.585786	0.17202	N	0.183091	T	0.70544	0.3236	N	0.24115	0.695	0.80722	D	1	B;B	0.17667	0.023;0.019	B;B	0.17098	0.01;0.017	T	0.55335	-0.8157	10	0.33940	T	0.23	.	5.1873	0.15191	0.0:0.4208:0.2613:0.3178	.	765;447	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	765;447	ENSP00000272895:E765Q;ENSP00000374312:E447Q	ENSP00000272895:E765Q	E	-	1	0	ABCA12	215584447	0.998000	0.40836	0.997000	0.53966	0.590000	0.36582	0.245000	0.18142	0.048000	0.15891	-0.878000	0.02970	GAG	ABCA12	-	NULL		0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215876202	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.979	G	G	215876202	C	G	215876202	3	3	13	1	0	0	0	0	1	0	0	0	30	922	32	1	5642	1	ABCA12	2	215876202	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	230406	215876202	27323171	159	1603										
SMARCAL1	50485	genome.wustl.edu	37	chr2	217347478	217347478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaggacccaaagcagcagaaGatctacgacctattccagaa	8	11	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:217347478G>A	ENST00000357276.4	+	18	2973	c.2643G>A	c.(2641-2643)aaG>aaA	p.K881K	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.K881K|AC098820.4_ENST00000414135.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	881					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCAGCAGAAGATCTACGACC	0.473									Schimke Immuno-Osseous Dysplasia																																								0													163	174	170					2																	217347478		2203	4300	6503	SO:0001819	synonymous_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2643G>A	2.37:g.217347478G>A			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K881	ENST00000357276.4	37	c.2643	CCDS2403.1	2																																																																																			SMARCAL1	-	NULL		0.473	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	G			217347478	1	no_errors	ENST00000357276	ensembl	human	known	70_37	silent	SNP	0.773	A	A	217347478	G	A	217347478	2	1	13	1	0	0	0	0	0	0	0	1	14803	933	33	1		1	SMARCAL1	2	217347478	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1471276	217347478	25851895	160	1604										
PLCD4	84812	genome.wustl.edu	37	chr2	219494347	219494347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgacctcccgcatcctgttCaaagatgtcgtggccacagt	9	14	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:219494347C>G	ENST00000450993.2	+	8	1419	c.1080C>G	c.(1078-1080)ttC>ttG	p.F360L	PLCD4_ENST00000417849.1_Missense_Mutation_p.F360L|PLCD4_ENST00000432688.1_Missense_Mutation_p.F360L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	360	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATCCTGTTCAAAGATGTCG	0.597																																																	0													62	65	64					2																	219494347		2090	4212	6302	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1080C>G	2.37:g.219494347C>G	ENSP00000388631:p.Phe360Leu		Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F360L	ENST00000450993.2	37	c.1080	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293674	0.80914	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.66995	-0.24;-0.24;-0.24	5.09	5.09	0.68999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	L	0.59967	1.855	0.43347	D	0.995406	P	0.47841	0.901	P	0.51453	0.67	T	0.73190	-0.4061	10	0.59425	D	0.04	.	12.7087	0.57078	0.0:0.9201:0.0:0.0799	.	360	Q9BRC7	PLCD4_HUMAN	L	360	ENSP00000388631:F360L;ENSP00000396942:F360L;ENSP00000396185:F360L	ENSP00000251959:F360L	F	+	3	2	PLCD4	219202591	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.241000	0.32743	2.657000	0.90304	0.491000	0.48974	TTC	PLCD4	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.597	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	C			219494347	1	no_errors	ENST00000417849	ensembl	human	known	70_37	missense	SNP	1.000	G	G	219494347	C	G	219494347	3	3	13	1	0	0	0	0	1	0	0	0	12057	825	29	1	1106	1	PLCD4	2	219494347	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2146869	219494347	23705026	161	1605										
DNAJB2	3300	genome.wustl.edu	37	chr2	220147867	220147867	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatgccagatttctcctcctCatctttctccttcagtcctg	5	15	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:220147867C>A	ENST00000336576.5	+	7	746	c.458C>A	c.(457-459)tCa>tAa	p.S153*	DNAJB2_ENST00000392086.4_Nonsense_Mutation_p.S153*|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	153					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCCTCCTCATCTTTCTCC	0.577																																																	0													113	79	91					2																	220147867		2203	4300	6503	SO:0001587	stop_gained	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.458C>A	2.37:g.220147867C>A	ENSP00000338019:p.Ser153*		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Nonsense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S153*	ENST00000336576.5	37	c.458	CCDS2439.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.164050	0.98107	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000392087	.	.	.	5.46	5.46	0.80206	.	0.286232	0.28209	N	0.016190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.9102	0.92481	0.0:1.0:0.0:0.0	.	.	.	.	X	153;153;153;122	.	ENSP00000338019:S153X	S	+	2	0	DNAJB2	219856111	0.998000	0.40836	0.960000	0.40013	0.998000	0.95712	3.747000	0.55134	2.550000	0.86006	0.563000	0.77884	TCA	DNAJB2	-	NULL		0.577	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	C			220147867	1	no_errors	ENST00000336576	ensembl	human	known	70_37	nonsense	SNP	0.987	A	A	220147867	C	A	220147867	4	1	13	1	0	0	0	0	0	1	0	0	4630	838	29	3	480	3	DNAJB2	2	220147867	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	653520	220147867	23051506	162	1606										
USP40	55230	genome.wustl.edu	37	chr2	234398105	234398105	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggggacgggacaccgaactCcaggaaaggaggcaaggtca	16	9	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:234398105C>G	ENST00000427112.2	-	26	3069	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Missense_Mutation_p.E1012Q|USP40_ENST00000450966.1_Missense_Mutation_p.E1024Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1012					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACACCGAACTCCAGGAAAGGA	0.498																																																	0													29	33	31					2																	234398105		1927	4127	6054	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3034G>C	2.37:g.234398105C>G	ENSP00000387898:p.Glu1012Gln		Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E1024Q	ENST00000427112.2	37	c.3070	CCDS46547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.281|9.281	1.048073|1.048073	0.19827|0.19827	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112|ENST00000454354;ENST00000430158	T;T;T|.	0.04970|.	3.52;3.52;3.52|.	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	0.562324|.	0.14566|.	N|.	0.311734|.	T|T	0.50939|0.50939	0.1645|0.1645	L|L	0.50333|0.50333	1.59|1.59	0.23994|0.23994	N|N	0.996235|0.996235	B;P|.	0.37864|.	0.303;0.61|.	B;B|.	0.38616|.	0.158;0.277|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.13470|.	T|.	0.59|.	.|.	13.4046|13.4046	0.60903|0.60903	0.0:0.9232:0.0:0.0768|0.0:0.9232:0.0:0.0768	.|.	1024;672|.	Q9NVE5-3;B4DN96|.	.;.|.	Q|C	1024;1012;1012|1;187	ENSP00000415434:E1024Q;ENSP00000251722:E1012Q;ENSP00000387898:E1012Q|.	ENSP00000251722:E1012Q|.	E|W	-|-	1|3	0|0	USP40|USP40	234062844|234062844	0.013000|0.013000	0.17824|0.17824	0.008000|0.008000	0.14137|0.14137	0.016000|0.016000	0.09150|0.09150	0.519000|0.519000	0.22862|0.22862	1.283000|1.283000	0.44513|0.44513	0.650000|0.650000	0.86243|0.86243	GAG|TGG	USP40	-	NULL		0.498	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	C	XM_114294		234398105	-1	no_errors	ENST00000450966	ensembl	human	known	70_37	missense	SNP	0.515	G	G	234398105	C	G	234398105	3	3	13	1	0	0	0	0	1	0	0	0	17103	864	30	1	697	1	USP40	2	234398105	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	14250238	234398105	8801268	163	1607										
PASK	23178	genome.wustl.edu	37	chr2	242047684	242047684	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtgtacagagtgactcccaGagaccacatctccagctccg	9	15	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:242047684G>A	ENST00000405260.1	-	16	4263	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	PASK_ENST00000358649.4_Silent_p.L1196L|PASK_ENST00000539818.1_Silent_p.L973L|PASK_ENST00000234040.4_Silent_p.L1189L|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000544142.1_Silent_p.L1003L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTGACTCCCAGAGACCACATC	0.617																																																	0													106	92	97					2																	242047684		2203	4300	6503	SO:0001819	synonymous_variant	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3565C>T	2.37:g.242047684G>A			G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.L1196	ENST00000405260.1	37	c.3586	CCDS2545.1	2																																																																																			PASK	-	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		0.617	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	G	NM_015148		242047684	-1	no_errors	ENST00000358649	ensembl	human	known	70_37	silent	SNP	0.999	A	A	242047684	G	A	242047684	2	1	13	1	0	0	0	0	0	0	0	1	11496	933	33	1		1	PASK	2	242047684	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7649579	242047684	1151689	164	1608										
ING5	84289	genome.wustl.edu	37	chr2	242644096	242644096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaccttccctgcgaacttcaGaggaacttccagctgatgcg	9	13	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:242644096G>C	ENST00000313552.6	+	2	92	c.66G>C	c.(64-66)caG>caC	p.Q22H	ING5_ENST00000406941.1_Missense_Mutation_p.Q22H|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	22					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCGAACTTCAGAGGAACTTCC	0.507																																																	0													127	124	125					2																	242644096		2203	4296	6499	SO:0001583	missense	84289			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.66G>C	2.37:g.242644096G>C	ENSP00000322142:p.Gln22His		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q22H	ENST00000313552.6	37	c.66	CCDS33425.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017484	0.75161	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	4.55	3.65	0.41850	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.76730	0.4028	M	0.77820	2.39	0.53688	D	0.999978	D;P	0.89917	1.0;0.774	D;P	0.77557	0.99;0.463	T	0.78066	-0.2349	9	0.48119	T	0.1	-11.7565	12.2713	0.54708	0.0835:0.0:0.9165:0.0	.	22;22	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	22	.	ENSP00000322142:Q22H	Q	+	3	2	ING5	242292769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.397000	0.34543	2.235000	0.73313	0.591000	0.81541	CAG	ING5	-	NULL		0.507	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	HGNC	protein_coding	OTTHUMT00000322901.3	G	NM_032329		242644096	1	no_errors	ENST00000313552	ensembl	human	known	70_37	missense	SNP	1.000	C	C	242644096	G	C	242644096	3	2	13	1	0	0	0	0	1	0	0	0	7759	933	33	1	72	1	ING5	2	242644096	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	596412	242644096	555277	165	1609										
CRELD1	78987	genome.wustl.edu	37	chr3	9984502	9984502	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcacctctctgcagacattGatgagtgtggcacagaggga	12	10	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:9984502G>C	ENST00000383811.3	+	7	1338	c.739G>C	c.(739-741)Gat>Cat	p.D247H	CRELD1_ENST00000326434.5_Missense_Mutation_p.D247H|CRELD1_ENST00000452070.1_Missense_Mutation_p.D247H|CRELD1_ENST00000397170.3_Missense_Mutation_p.D247H|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	247					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGCAGACATTGATGAGTGTGG	0.517																																																	0													97	87	90					3																	9984502		2203	4300	6503	SO:0001583	missense	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.739G>C	3.37:g.9984502G>C	ENSP00000373322:p.Asp247His		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D247H	ENST00000383811.3	37	c.739	CCDS2593.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.407388|4.407388	0.83230|0.83230	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434|ENST00000435417	D;D;D;D|.	0.95622|.	-3.76;-3.76;-3.76;-3.76|.	4.74|4.74	4.74|4.74	0.60224|0.60224	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);|.	0.147573|.	0.48767|.	D|.	0.000161|.	D|.	0.87577|.	0.6212|.	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|.	0.91838|.	0.5481|.	9|.	.|.	.|.	.|.	.|.	15.2185|15.2185	0.73288|0.73288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	247;247|.	Q96HD1;Q96HD1-2|.	CREL1_HUMAN;.|.	H|S	247|9	ENSP00000380355:D247H;ENSP00000373322:D247H;ENSP00000393643:D247H;ENSP00000321856:D247H|.	.|.	D|X	+|+	1|2	0|2	CRELD1|CRELD1	9959502|9959502	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.881000|0.881000	0.50899|0.50899	9.627000|9.627000	0.98412|0.98412	2.172000|2.172000	0.68678|0.68678	0.491000|0.491000	0.48974|0.48974	GAT|TGA	CRELD1	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EGF-like_Ca-bd		0.517	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRELD1	HGNC	protein_coding	OTTHUMT00000250533.1	G	NM_015513		9984502	1	no_errors	ENST00000326434	ensembl	human	known	70_37	missense	SNP	0.998	C	C	9984502	G	C	9984502	3	2	13	1	0	0	0	0	1	0	0	0	3871	1290	45	1	765	1	CRELD1	3	9984502	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		9984502	188037928	166	1610										
ATG7	10533	genome.wustl.edu	37	chr3	11596302	11596302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagatctgggacatgagcgaTgatgagaccatctgagatgg	14	7	2	5	rs8154	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:11596302T>C	ENST00000354449.3	+	19	2122	c.2097T>C	c.(2095-2097)gaT>gaC	p.D699D	ATG7_ENST00000354956.5_Silent_p.D672D|ATG7_ENST00000446450.2_Silent_p.D619D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	699					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.D699D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ACATGAGCGATGATGAGACCA	0.637													C|||	1275	0.254593	0.3419	0.2277	5008	,	,		17980	0.1389		0.3201	False		,,,				2504	0.2076																1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						C	,,	1417,2989	685.6+/-404.6	218,981,1004	89	79	82		2016,1857,2097	1.4	0.9	3	dbSNP_100	82	2776,5824	678.6+/-403.5	459,1858,1983	no	coding-synonymous,coding-synonymous,coding-synonymous	ATG7	NM_001136031.2,NM_001144912.1,NM_006395.2	,,	677,2839,2987	CC,CT,TT		32.2791,32.1607,32.239	,,	672/677,619/624,699/704	11596302	4193,8813	2203	4300	6503	SO:0001819	synonymous_variant	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2097T>C	3.37:g.11596302T>C			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7	p.D699	ENST00000354449.3	37	c.2097	CCDS2605.1	3																																																																																			ATG7	-	tigrfam_E1-like_Apg7		0.637	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	T	NM_006395		11596302	1	no_errors	ENST00000354449	ensembl	human	known	70_37	silent	SNP	1.000	C	C	11596302	T	C	11596302	2	2	13	1	0	0	0	0	0	0	0	1	1102	1461	51	5		5	ATG7	3	11596302	Silent	SNP	T	TCGA-C5-A1BQ-01C-11D-A20U-09	1611800	11596302	186426128	167	1611										
ANKRD28	23243	genome.wustl.edu	37	chr3	15712019	15712019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caaaatgagagccaggcaatCagccacatccttattgggag	10	10	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:15712019C>T	ENST00000399451.2	-	28	3287	c.2920G>A	c.(2920-2922)Gat>Aat	p.D974N	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D1007N	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	974						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCCAGGCAATCAGCCACATCC	0.408																																																	0													109	106	107					3																	15712019		1957	4153	6110	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2920G>A	3.37:g.15712019C>T	ENSP00000382379:p.Asp974Asn		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1007N	ENST00000399451.2	37	c.3019	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736341	0.89482	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.28895	2.36;1.59;2.36	5.65	5.65	0.86999	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.31526	0.94	0.80722	D	1	B;B	0.32324	0.141;0.364	B;B	0.39465	0.046;0.3	T	0.10683	-1.0619	10	0.56958	D	0.05	.	19.7241	0.96154	0.0:1.0:0.0:0.0	.	54;974	B4DS25;O15084	.;ANR28_HUMAN	N	974;1007;974	ENSP00000382379:D974N;ENSP00000373287:D1007N;ENSP00000397341:D974N	ENSP00000373287:D1007N	D	-	1	0	ANKRD28	15687023	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.818000	0.86416	2.668000	0.90789	0.655000	0.94253	GAT	ANKRD28	-	pfscan_Ankyrin_rpt-contain_dom		0.408	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	C	NM_015199		15712019	-1	no_errors	ENST00000383777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15712019	C	T	15712019	3	4	13	1	0	0	0	0	1	0	0	0	656	826	29	1	245	1	ANKRD28	3	15712019	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4115717	15712019	182310411	168	1612										
PLCL2	23228	genome.wustl.edu	37	chr3	17052159	17052159	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attactttataaactcatctCataatacatacttaatagag	2	7	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:17052159C>T	ENST00000418129.2	+	2	1408	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.H315Y|PLCL2_ENST00000396755.2_Missense_Mutation_p.H315Y	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	441					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAACTCATCTCATAATACATA	0.388																																																	0													110	122	118					3																	17052159		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.943C>T	3.37:g.17052159C>T	ENSP00000409637:p.His315Tyr		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.H315Y	ENST00000418129.2	37	c.943	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844224	0.32606	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.65916	-0.18;-0.18;-0.18	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.089379	0.85682	D	0.000000	T	0.70037	0.3178	.	.	.	0.80722	D	1	P	0.43701	0.815	P	0.47015	0.534	T	0.70722	-0.4794	9	0.59425	D	0.04	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	441	Q9UPR0	PLCL2_HUMAN	Y	315;442;315;315	ENSP00000409637:H315Y;ENSP00000379979:H315Y;ENSP00000412836:H315Y	ENSP00000285094:H442Y	H	+	1	0	PLCL2	17027163	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CAT	PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.388	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	C			17052159	1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17052159	C	T	17052159	3	4	13	1	0	0	0	0	1	0	0	0	12064	826	29	1	1321	1	PLCL2	3	17052159	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1340140	17052159	180970271	169	1613										
TBC1D5	9779	genome.wustl.edu	37	chr3	17202618	17202618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggcttttcccagaggtgcttCtgagggtgcgaagaggctgg	17	8	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:17202618C>T	ENST00000253692.7	-	22	3889	c.2225G>A	c.(2224-2226)aGa>aAa	p.R742K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.R764K|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.R742K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	742						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGAGGTGCTTCTGAGGGTGCG	0.597																																																	0													49	54	52					3																	17202618		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2225G>A	3.37:g.17202618C>T	ENSP00000253692:p.Arg742Lys		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R742K	ENST00000253692.7	37	c.2225	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083740	0.20309	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.29142	1.58;1.58;1.6	5.63	3.61	0.41365	.	0.475577	0.24458	N	0.038341	T	0.11707	0.0285	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10823	-1.0613	10	0.10636	T	0.68	-7.1497	4.1954	0.10441	0.0:0.5361:0.0:0.4639	.	764;742;742	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	K	742;742;764	ENSP00000253692:R742K;ENSP00000398127:R742K;ENSP00000402935:R764K	ENSP00000253692:R742K	R	-	2	0	TBC1D5	17177622	0.998000	0.40836	0.925000	0.36789	0.709000	0.40893	1.383000	0.34385	1.389000	0.46526	0.561000	0.74099	AGA	TBC1D5	-	NULL		0.597	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	C	NM_014744		17202618	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	0.903	T	T	17202618	C	T	17202618	3	4	13	1	0	0	0	0	1	0	0	0	15653	913	32	1	166	1	TBC1D5	3	17202618	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	150459	17202618	180819812	170	1614										
TBC1D5	9779	genome.wustl.edu	37	chr3	17550029	17550029	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttgttcttctggctgcaGaggatgtctagtttcagata	10	7	5	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:17550029G>C	ENST00000253692.7	-	3	1698	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L12V|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L12V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	12						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCTGGCTGCAGAGGATGTCTA	0.408																																																	0													165	142	149					3																	17550029		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.34C>G	3.37:g.17550029G>C	ENSP00000253692:p.Leu12Val		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L12V	ENST00000253692.7	37	c.34	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653972	0.47362	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863;ENST00000434420;ENST00000444471;ENST00000433533	T;T;T;T;T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.88	3.09	0.35607	.	0.000000	0.64402	D	0.000001	T	0.37598	0.1009	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.991	T	0.15694	-1.0428	10	0.87932	D	0	-10.739	8.6074	0.33782	0.2934:0.0:0.7066:0.0	.	12;12	C9JP52;Q92609	.;TBCD5_HUMAN	V	12	ENSP00000253692:L12V;ENSP00000398127:L12V;ENSP00000402935:L12V;ENSP00000396239:L12V;ENSP00000387395:L12V;ENSP00000399967:L12V;ENSP00000410596:L12V;ENSP00000393882:L12V;ENSP00000424998:L12V;ENSP00000415379:L12V;ENSP00000414159:L12V;ENSP00000396850:L12V;ENSP00000408603:L12V	ENSP00000253692:L12V	L	-	1	2	TBC1D5	17525033	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	1.624000	0.37018	1.483000	0.48342	0.561000	0.74099	CTG	TBC1D5	-	NULL		0.408	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	G	NM_014744		17550029	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17550029	G	C	17550029	3	2	13	1	0	0	0	0	1	0	0	0	15653	933	33	1	2503	1	TBC1D5	3	17550029	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	347411	17550029	180472401	171	1615										
CLASP2	23122	genome.wustl.edu	37	chr3	33614827	33614827	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcattccatatgattcatatCttcttcgagctggttttttc	6	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:33614827C>G	ENST00000468888.2	-	26	2547	c.2501G>C	c.(2500-2502)aGa>aCa	p.R834T	CLASP2_ENST00000539981.1_Missense_Mutation_p.R603T|CLASP2_ENST00000480013.1_Missense_Mutation_p.R613T|CLASP2_ENST00000359576.5_Missense_Mutation_p.R825T|CLASP2_ENST00000399362.4_Missense_Mutation_p.R833T|CLASP2_ENST00000307312.7_Missense_Mutation_p.R314T|CLASP2_ENST00000461133.3_Missense_Mutation_p.R592T			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	613					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGATTCATATCTTCTTCGAGC	0.368																																																	0													156	139	145					3																	33614827		1899	4098	5997	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2501G>C	3.37:g.33614827C>G	ENSP00000419974:p.Arg834Thr		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R833T	ENST00000468888.2	37	c.2498		3	.	.	.	.	.	.	.	.	.	.	C	35	5.443438	0.96187	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T	0.19806	2.13;2.12;2.12	5.74	5.74	0.90152	Armadillo-type fold (1);	0.214602	0.47852	D	0.000211	T	0.44540	0.1298	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.76494	0.997;0.996;0.999	D;D;D	0.77557	0.989;0.99;0.978	T	0.02358	-1.1171	10	0.25751	T	0.34	-20.8047	20.3075	0.98634	0.0:1.0:0.0:0.0	.	613;825;833	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	T	834;833;825;314;603;613;592;124	ENSP00000419974:R834T;ENSP00000382297:R833T;ENSP00000352581:R825T	ENSP00000304743:R314T	R	-	2	0	CLASP2	33589831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.880000	0.98712	0.650000	0.86243	AGA	CLASP2	-	superfamily_ARM-type_fold		0.368	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	C	NM_001207044		33614827	-1	no_errors	ENST00000399362	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33614827	C	G	33614827	3	3	13	1	0	0	0	0	1	0	0	0	3460	913	32	1	2102	1	CLASP2	3	33614827	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	16064798	33614827	164407603	172	1616										
ITGA9	3680	genome.wustl.edu	37	chr3	37544680	37544680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttttggtaggagctggtggtGatgggtgctccagggtcatt	17	5	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:37544680G>A	ENST00000264741.5	+	6	880	c.624G>A	c.(622-624)gtG>gtA	p.V208V	ITGA9_ENST00000422441.1_Silent_p.V208V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	208					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCTGGTGGTGATGGGTGCTC	0.473																																																	0													157	148	151					3																	37544680		2203	4300	6503	SO:0001819	synonymous_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.624G>A	3.37:g.37544680G>A			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V208	ENST00000264741.5	37	c.624	CCDS2669.1	3																																																																																			ITGA9	-	NULL		0.473	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	G	NM_002207		37544680	1	no_errors	ENST00000264741	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37544680	G	A	37544680	2	1	13	1	0	0	0	0	0	0	0	1	7903	1277	45	1		1	ITGA9	3	37544680	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3929853	37544680	160477750	173	1617										
SCN10A	6336	genome.wustl.edu	37	chr3	38739815	38739815	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcgatgccagcctcccacctCacatggggaaagctggacat	10	14	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:38739815C>T	ENST00000449082.2	-	27	4895	c.4896G>A	c.(4894-4896)gtG>gtA	p.V1632V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1632					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCTCCCACCTCACATGGGGAA	0.552																																																	0													174	161	165					3																	38739815		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4896G>A	3.37:g.38739815C>T			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.V1632	ENST00000449082.2	37	c.4896	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	C	NM_006514		38739815	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	silent	SNP	0.019	T	T	38739815	C	T	38739815	2	4	13	1	0	0	0	0	0	0	0	1	13942	813	29	1		1	SCN10A	3	38739815	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1195135	38739815	159282615	174	1618										
TTC21A	199223	genome.wustl.edu	37	chr3	39170291	39170291	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagaggccataaagacgctGaaaatggtcatcaaattgcc	9	10	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:39170291G>A	ENST00000431162.2	+	14	1919	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	TTC21A_ENST00000301819.6_Silent_p.L596L|TTC21A_ENST00000440121.1_Silent_p.L547L			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	595										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAAGACGCTGAAAATGGTCA	0.542																																																	0													115	115	115					3																	39170291		1940	4142	6082	SO:0001819	synonymous_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1785G>A	3.37:g.39170291G>A			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L596	ENST00000431162.2	37	c.1788	CCDS46800.1	3																																																																																			TTC21A	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.542	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755		39170291	1	no_errors	ENST00000301819	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39170291	G	A	39170291	2	1	13	1	0	0	0	0	0	0	0	1	16718	1277	45	1		1	TTC21A	3	39170291	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	430476	39170291	158852139	175	1619										
NKTR	4820	genome.wustl.edu	37	chr3	42674112	42674112	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtttttgagaaaaaaaggaaGaaaccaactcattcagaagg	9	5	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:42674112G>C	ENST00000232978.8	+	9	758	c.570G>C	c.(568-570)aaG>aaC	p.K190N	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	190					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAAAAAGGAAGAAACCAACTC	0.338																																																	0													43	46	45					3																	42674112		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.570G>C	3.37:g.42674112G>C	ENSP00000232978:p.Lys190Asn			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K190N	ENST00000232978.8	37	c.570	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132924	0.56828	.	.	ENSG00000114857	ENST00000232978	T	0.15139	2.45	5.83	5.83	0.93111	.	0.105674	0.64402	D	0.000004	T	0.36524	0.0970	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.64144	0.617;0.922	T	0.08046	-1.0741	10	0.72032	D	0.01	-19.3364	10.1948	0.43047	0.1519:0.0:0.8481:0.0	.	70;190	Q59EC3;P30414	.;NKTR_HUMAN	N	190	ENSP00000232978:K190N	ENSP00000232978:K190N	K	+	3	2	NKTR	42649116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.043000	0.57354	2.754000	0.94517	0.655000	0.94253	AAG	NKTR	-	NULL		0.338	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42674112	1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42674112	G	C	42674112	3	2	13	1	0	0	0	0	1	0	0	0	10472	933	33	1	600	1	NKTR	3	42674112	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3503821	42674112	155348318	176	1620										
ZBTB47	92999	genome.wustl.edu	37	chr3	42700652	42700652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaccgtggttctgggccggGaggacgggctgcagagacac	17	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:42700652G>A	ENST00000232974.6	+	2	1086	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ZBTB47_ENST00000505904.1_5'UTR|ZBTB47_ENST00000457842.3_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	269	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TCTGGGCCGGGAGGACGGGCT	0.657																																																	0													20	29	27					3																	42700652		692	1591	2283	SO:0001583	missense	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.805G>A	3.37:g.42700652G>A	ENSP00000232974:p.Glu269Lys		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E269K	ENST00000232974.6	37	c.805	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173013	0.38413	.	.	ENSG00000114853	ENST00000232974;ENST00000542870	T	0.72394	-0.65	4.08	4.08	0.47627	.	0.709223	0.12254	N	0.485383	T	0.59307	0.2184	L	0.29908	0.895	0.80722	D	1	B	0.19200	0.034	B	0.15870	0.014	T	0.55554	-0.8123	10	0.41790	T	0.15	-12.836	12.0049	0.53252	0.0:0.0:0.827:0.173	.	269	F5H6L2	.	K	269	ENSP00000232974:E269K	ENSP00000232974:E269K	E	+	1	0	ZBTB47	42675656	0.953000	0.32496	0.999000	0.59377	0.029000	0.11900	1.204000	0.32296	2.259000	0.74868	0.542000	0.68232	GAG	ZBTB47	-	NULL		0.657	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700652	1	no_errors	ENST00000232974	ensembl	human	known	70_37	missense	SNP	0.973	A	A	42700652	G	A	42700652	3	1	13	1	0	0	0	0	1	0	0	0	17578	1175	41	1	807	1	ZBTB47	3	42700652	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	26540	42700652	155321778	177	1621										
CCR9	10803	genome.wustl.edu	37	chr3	45942323	45942323	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccctattcctaacatggctGatgactatggctctgaatcc	8	12	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:45942323G>A	ENST00000357632.2	+	3	223	c.43G>A	c.(43-45)Gat>Aat	p.D15N	CCR9_ENST00000355983.2_Missense_Mutation_p.D3N|CCR9_ENST00000395963.2_Missense_Mutation_p.D3N|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000422395.1_Silent_p.L43L|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	15					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TAACATGGCTGATGACTATGG	0.453																																																	0													112	102	106					3																	45942323		2203	4300	6503	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.43G>A	3.37:g.45942323G>A	ENSP00000350256:p.Asp15Asn		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4	p.D15N	ENST00000357632.2	37	c.43	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966057	0.74131	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.69306	-0.35;-0.39;-0.39	4.42	4.42	0.53409	.	2.649290	0.01717	N	0.028096	T	0.63105	0.2483	N	0.26042	0.785	0.37401	D	0.912856	B	0.23735	0.09	B	0.21360	0.034	T	0.34601	-0.9822	10	0.62326	D	0.03	.	16.4911	0.84201	0.0:0.0:1.0:0.0	.	15	P51686	CCR9_HUMAN	N	15;3;3	ENSP00000350256:D15N;ENSP00000379292:D3N;ENSP00000348260:D3N	ENSP00000348260:D3N	D	+	1	0	CCR9	45917327	0.125000	0.22332	0.284000	0.24805	0.442000	0.32017	1.520000	0.35899	2.392000	0.81423	0.563000	0.77884	GAT	CCR9	-	NULL		0.453	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	G			45942323	1	no_errors	ENST00000357632	ensembl	human	known	70_37	missense	SNP	0.805	A	A	45942323	G	A	45942323	3	1	13	1	0	0	0	0	1	0	0	0	2953	1290	45	1	49	1	CCR9	3	45942323	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3241671	45942323	152080107	178	1622										
ALS2CL	259173	genome.wustl.edu	37	chr3	46713023	46713023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacaggcctcctgtgtggttGgggtccatcatgtcacggat	13	10	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:46713023G>A	ENST00000318962.4	-	25	2819	c.2736C>T	c.(2734-2736)ccC>ccT	p.P912P	ALS2CL_ENST00000415953.1_Silent_p.P912P|ALS2CL_ENST00000383742.3_Silent_p.P259P	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	912	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGTGGTTGGGGTCCATCA	0.612																																																	0													99	88	92					3																	46713023		2203	4300	6503	SO:0001819	synonymous_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2736C>T	3.37:g.46713023G>A			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.P912	ENST00000318962.4	37	c.2736	CCDS2743.1	3																																																																																			ALS2CL	-	pfam_VPS9,pfscan_VPS9		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46713023	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	silent	SNP	0.003	A	A	46713023	G	A	46713023	2	1	13	1	0	0	0	0	0	0	0	1	551	1335	47	4		4	ALS2CL	3	46713023	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	770700	46713023	151309407	179	1623										
MYL3	4634	genome.wustl.edu	37	chr3	46904775	46904775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatcttggaagcatcaaactCgacctccttagggcgctcag	10	12	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:46904775C>T	ENST00000395869.1	-	1	157	c.106G>A	c.(106-108)Gag>Aag	p.E36K	MYL3_ENST00000292327.4_Missense_Mutation_p.E36K			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	36					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCATCAAACTCGACCTCCTTA	0.597																																					Melanoma(166;130 1949 2249 18977 46142)												0													137	139	138					3																	46904775		2203	4300	6503	SO:0001583	missense	4634				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.106G>A	3.37:g.46904775C>T	ENSP00000379210:p.Glu36Lys		B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E36K	ENST00000395869.1	37	c.106	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	c	11.01	1.514118	0.27123	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84873	-1.91;-1.91	4.67	3.63	0.41609	.	0.315116	0.29660	N	0.011538	T	0.68504	0.3008	L	0.32530	0.975	0.09310	N	0.999996	B	0.33379	0.41	B	0.14578	0.011	T	0.53718	-0.8399	10	0.13853	T	0.58	-32.9329	5.0026	0.14271	0.0:0.6554:0.2002:0.1444	.	36	P08590	MYL3_HUMAN	K	36	ENSP00000379210:E36K;ENSP00000292327:E36K	ENSP00000292327:E36K	E	-	1	0	MYL3	46879779	0.009000	0.17119	0.487000	0.27428	0.509000	0.34042	2.402000	0.44521	1.068000	0.40764	0.556000	0.70494	GAG	MYL3	-	NULL		0.597	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	C	NM_000258		46904775	-1	no_errors	ENST00000292327	ensembl	human	known	70_37	missense	SNP	0.218	T	T	46904775	C	T	46904775	3	4	13	1	0	0	0	0	1	0	0	0	10071	893	31	1	505	1	MYL3	3	46904775	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	191752	46904775	151117655	180	1624										
CSPG5	10675	genome.wustl.edu	37	chr3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctggaagggcctgggcatCgccgctgcccgcctctgcgg	16	15	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:47619161C>T	ENST00000383738.2	-	2	2453	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N|CSPG5_ENST00000456150.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	119					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692																																																	0													31	37	35					3																	47619161		2193	4287	6480	SO:0001583	missense	10675			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.355G>A	3.37:g.47619161C>T	ENSP00000373244:p.Asp119Asn		Q71M39|Q71M40	Missense_Mutation	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.D119N	ENST00000383738.2	37	c.355	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775440	0.90108	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.50548	0.74;0.74	3.92	3.92	0.45320	Chondroitin sulphate attachment (1);	0.086056	0.45126	D	0.000391	T	0.53286	0.1787	L	0.27053	0.805	0.33250	D	0.558451	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.64719	-0.6341	10	0.66056	D	0.02	-27.6038	11.6049	0.51026	0.0:1.0:0.0:0.0	.	119;119	O95196;O95196-2	CSPG5_HUMAN;.	N	119	ENSP00000373244:D119N;ENSP00000264723:D119N	ENSP00000264723:D119N	D	-	1	0	CSPG5	47594165	0.419000	0.25449	0.998000	0.56505	0.913000	0.54294	2.246000	0.43142	2.189000	0.69895	0.579000	0.79373	GAT	CSPG5	-	pfam_Chon_Sulph_att		0.692	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	C	NM_006574		47619161	-1	no_errors	ENST00000383738	ensembl	human	known	70_37	missense	SNP	0.997	T	T	47619161	C	T	47619161	3	4	13	1	0	0	0	0	1	0	0	0	3966	884	31	1	1280	1	CSPG5	3	47619161	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	714386	47619161	150403269	181	1625										
CELSR3	1951	genome.wustl.edu	37	chr3	48679399	48679399	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatggaatggagagactcctCtcctcctccaaggacaggtc	11	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:48679399C>T	ENST00000164024.4	-	32	8989	c.8709G>A	c.(8707-8709)gaG>gaA	p.E2903E	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.E2908E	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2903					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGACTCCTCTCCTCCTCCA	0.577																																																	0													25	26	25					3																	48679399		2199	4289	6488	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8709G>A	3.37:g.48679399C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2908	ENST00000164024.4	37	c.8724	CCDS2775.1	3																																																																																			CELSR3	-	NULL		0.577	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48679399	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	silent	SNP	0.948	T	T	48679399	C	T	48679399	2	4	13	1	0	0	0	0	0	0	0	1	3228	912	32	1		1	CELSR3	3	48679399	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1060238	48679399	149343031	182	1626										
CELSR3	1951	genome.wustl.edu	37	chr3	48689423	48689423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agccaggctccgcattcactCggtggctggggggtagcagg	17	11	1	0	rs369174347		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:48689423C>T	ENST00000164024.4	-	12	6090	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1937Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1937	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1937P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCATTCACTCGGTGGCTGGG	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		14865	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	29	32	31		5810	2.6	1	3		31	0,8600		0,0,4300	no	missense	CELSR3	NM_001407.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1937/3313	48689423	1,13005	2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5810G>A	3.37:g.48689423C>T	ENSP00000164024:p.Arg1937Gln		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1937Q	ENST00000164024.4	37	c.5810	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191561	0.21954	2.27E-4	0.0	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.79554	-1.28;-1.28	5.72	2.57	0.30868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.55970	0.1954	N	0.08118	0	0.09310	N	1	B;B	0.32128	0.091;0.357	B;B	0.17433	0.018;0.01	T	0.39742	-0.9599	9	0.17832	T	0.49	.	8.1423	0.31091	0.0:0.5774:0.249:0.1736	.	1937;2007	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Q	1937	ENSP00000164024:R1937Q;ENSP00000445694:R1937Q	ENSP00000164024:R1937Q	R	-	2	0	CELSR3	48664427	0.400000	0.25295	0.997000	0.53966	0.776000	0.43924	0.758000	0.26447	0.790000	0.33803	-0.797000	0.03246	CGA	CELSR3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48689423	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	0.001	T	T	48689423	C	T	48689423	3	4	13	1	0	0	0	0	1	0	0	0	3228	884	31	1	4224	1	CELSR3	3	48689423	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	10024	48689423	149333007	183	1627										
BSN	8927	genome.wustl.edu	37	chr3	49695363	49695363	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccagcctcccaagtcccctCaggtcctctactcaccagtc	6	20	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:49695363C>T	ENST00000296452.4	+	5	8488	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2792					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.Q2792E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAAGTCCCCTCAGGTCCTCTA	0.592																																																	1	Substitution - Missense(1)	endometrium(1)											103	107	105					3																	49695363		2203	4300	6503	SO:0001587	stop_gained	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8374C>T	3.37:g.49695363C>T	ENSP00000296452:p.Gln2792*		O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q2792*	ENST00000296452.4	37	c.8374	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	49	15.631026	0.99840	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.9753	19.7891	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	X	2792	.	ENSP00000296452:Q2792X	Q	+	1	0	BSN	49670367	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.692000	0.91855	0.561000	0.74099	CAG	BSN	-	NULL		0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49695363	1	no_errors	ENST00000296452	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49695363	C	T	49695363	4	4	13	1	0	0	0	0	0	1	0	0	1533	827	29	1	8392	1	BSN	3	49695363	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1005940	49695363	148327067	184	1628										
RBM6	10180	genome.wustl.edu	37	chr3	50098409	50098409	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatgattctggggaccattCtgaccacatgcattactatc	7	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:50098409C>G	ENST00000266022.4	+	12	2508	c.2249C>G	c.(2248-2250)tCt>tGt	p.S750C	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.S228C|RBM6_ENST00000443081.1_Missense_Mutation_p.S618C|RBM6_ENST00000539992.1_Missense_Mutation_p.S92C|RBM6_ENST00000442092.1_Missense_Mutation_p.S228C	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	750					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGGACCATTCTGACCACATG	0.418																																																	0													195	172	180					3																	50098409		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2249C>G	3.37:g.50098409C>G	ENSP00000266022:p.Ser750Cys		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.S750C	ENST00000266022.4	37	c.2249	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924719	0.73213	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.48201	0.82;1.45;1.41;0.88;0.82	6.14	6.14	0.99180	.	0.329422	0.29791	N	0.011187	T	0.48169	0.1485	L	0.36672	1.1	0.26784	N	0.969549	P;D	0.59357	0.931;0.985	P;P	0.49999	0.49;0.628	T	0.45160	-0.9280	9	.	.	.	-7.43	15.3046	0.73982	0.0:0.8607:0.1393:0.0	.	618;750	E9PGM9;P78332	.;RBM6_HUMAN	C	228;750;618;92;228	ENSP00000393530:S228C;ENSP00000266022:S750C;ENSP00000396466:S618C;ENSP00000443165:S92C;ENSP00000392939:S228C	.	S	+	2	0	RBM6	50073413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.769000	0.47654	2.937000	0.99478	0.650000	0.86243	TCT	RBM6	-	NULL		0.418	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	C	NM_005777		50098409	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50098409	C	G	50098409	3	3	13	1	0	0	0	0	1	0	0	0	13174	913	32	1	2291	1	RBM6	3	50098409	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	403046	50098409	147924021	185	1629										
RBM6	10180	genome.wustl.edu	37	chr3	50114561	50114561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgctcgatataaagaactcGattaagaaaggagacaagtt	9	5	0	3	rs368502555		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:50114561G>A	ENST00000266022.4	+	21	3626	c.3367G>A	c.(3367-3369)Gat>Aat	p.D1123N	RBM6_ENST00000422955.1_Missense_Mutation_p.D601N|RBM6_ENST00000443081.1_Missense_Mutation_p.D991N|RBM6_ENST00000539992.1_Missense_Mutation_p.D465N|RBM6_ENST00000421682.1_Missense_Mutation_p.D119N|RBM6_ENST00000442092.1_Missense_Mutation_p.D601N	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1123					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TAAAGAACTCGATTAAGAAAG	0.423																																																	0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	86	79	81		1801,3367	5.7	1	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RBM6	NM_001167582.1,NM_005777.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	601/602,1123/1124	50114561	1,13005	2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3367G>A	3.37:g.50114561G>A	ENSP00000266022:p.Asp1123Asn		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D1123N	ENST00000266022.4	37	c.3367	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273043	0.80580	0.0	1.16E-4	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000421682	T;T;T;T;T	0.55930	0.49;0.99;1.01;0.57;0.49	5.72	5.72	0.89469	.	0.172710	0.50627	D	0.000108	T	0.40119	0.1104	L	0.29908	0.895	0.46131	D	0.99888	P	0.46020	0.871	B	0.36030	0.216	T	0.25710	-1.0124	9	.	.	.	.	17.65	0.88161	0.0:0.0:1.0:0.0	.	1123	P78332	RBM6_HUMAN	N	601;1123;991;465;601;119	ENSP00000393530:D601N;ENSP00000266022:D1123N;ENSP00000396466:D991N;ENSP00000443165:D465N;ENSP00000392939:D601N	.	D	+	1	0	RBM6	50089565	1.000000	0.71417	0.973000	0.42090	0.928000	0.56348	5.885000	0.69736	2.709000	0.92574	0.561000	0.74099	GAT	RBM6	-	NULL		0.423	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50114561	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	0.997	A	A	50114561	G	A	50114561	3	1	13	1	0	0	0	0	1	0	0	0	13174	1058	37	1	3445	1	RBM6	3	50114561	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	16152	50114561	147907869	186	1630										
POC1A	25886	genome.wustl.edu	37	chr3	52159161	52159161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcctccagaagcaaaatactCccccgttcttgaaaaggcaa	7	13	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:52159161C>T	ENST00000296484.2	-	8	889	c.850G>A	c.(850-852)Gag>Aag	p.E284K	POC1A_ENST00000394970.2_Missense_Mutation_p.E284K|POC1A_ENST00000474012.1_Missense_Mutation_p.E246K	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	284					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCAAAATACTCCCCCGTTCTT	0.433																																																	0													134	125	128					3																	52159161		2203	4300	6503	SO:0001583	missense	25886			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.850G>A	3.37:g.52159161C>T	ENSP00000296484:p.Glu284Lys		A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E284K	ENST00000296484.2	37	c.850	CCDS2846.1	3	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044518	0.55110	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.59224	0.28;0.28;0.28	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.268987	0.42053	D	0.000763	T	0.35038	0.0918	N	0.04686	-0.185	0.40981	D	0.984775	B;B	0.30763	0.029;0.294	B;B	0.31101	0.01;0.124	T	0.29058	-1.0024	10	0.23891	T	0.37	.	13.1014	0.59222	0.0:1.0:0.0:0.0	.	284;284	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	K	284;284;246	ENSP00000296484:E284K;ENSP00000378421:E284K;ENSP00000418968:E246K	ENSP00000296484:E284K	E	-	1	0	POC1A	52134201	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.090000	0.50191	2.463000	0.83235	0.561000	0.74099	GAG	POC1A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.433	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1A	HGNC	protein_coding	OTTHUMT00000349685.1	C	NM_015426		52159161	-1	no_errors	ENST00000296484	ensembl	human	known	70_37	missense	SNP	0.997	T	T	52159161	C	T	52159161	3	4	13	1	0	0	0	0	1	0	0	0	12199	864	30	1	389	1	POC1A	3	52159161	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2044600	52159161	145863269	187	1631										
IL17RB	55540	genome.wustl.edu	37	chr3	53899116	53899116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccccttgcctttaaccttttCtgcagtgatctaagaagcca	6	13	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:53899116C>G	ENST00000288167.3	+	11	1299	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	430	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.			Missing (in Ref. 2; AA sequence). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TTAACCTTTTCTGCAGTGATC	0.478																																																	0													96	87	90					3																	53899116		2203	4300	6503	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1290C>G	3.37:g.53899116C>G	ENSP00000288167:p.Phe430Leu		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	pfam_SEFIR	p.F430L	ENST00000288167.3	37	c.1290	CCDS2874.1	3	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822473	0.32237	.	.	ENSG00000056736	ENST00000288167	T	0.28666	1.6	5.65	2.4	0.29515	SEFIR (1);	0.195054	0.35870	N	0.002938	T	0.29556	0.0737	M	0.68317	2.08	0.37600	D	0.920509	B	0.24618	0.107	B	0.26693	0.072	T	0.10543	-1.0625	10	0.40728	T	0.16	-13.054	7.8802	0.29618	0.0:0.6905:0.0:0.3095	.	430	Q9NRM6	I17RB_HUMAN	L	430	ENSP00000288167:F430L	ENSP00000288167:F430L	F	+	3	2	IL17RB	53874156	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.882000	0.28186	0.160000	0.19432	-0.145000	0.13849	TTC	IL17RB	-	pfam_SEFIR		0.478	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RB	HGNC	protein_coding	OTTHUMT00000350563.1	C	NM_172234		53899116	1	no_errors	ENST00000288167	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53899116	C	G	53899116	3	3	13	1	0	0	0	0	1	0	0	0	7660	912	32	1	1332	1	IL17RB	3	53899116	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1739955	53899116	144123314	188	1632										
IL17RD	54756	genome.wustl.edu	37	chr3	57148770	57148770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgccacttggtcatggcaaGcatactggctgatggtgata	12	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:57148770G>A	ENST00000296318.7	-	3	348	c.260C>T	c.(259-261)gCt>gTt	p.A87V	IL17RD_ENST00000479825.1_5'UTR|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000427856.2_Missense_Mutation_p.A63V|IL17RD_ENST00000463523.1_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	87					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTCATGGCAAGCATACTGGCT	0.517																																																	0													76	76	76					3																	57148770		1956	4152	6108	SO:0001583	missense	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.260C>T	3.37:g.57148770G>A	ENSP00000296318:p.Ala87Val		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.A87V	ENST00000296318.7	37	c.260	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.491298	0.96339	.	.	ENSG00000144730	ENST00000296318;ENST00000427856	T;T	0.17054	2.3;2.31	5.8	5.8	0.92144	.	0.149355	0.64402	D	0.000013	T	0.20292	0.0488	L	0.27053	0.805	0.53688	D	0.999978	P;P	0.41393	0.748;0.649	B;B	0.44044	0.355;0.439	T	0.00857	-1.1538	10	0.72032	D	0.01	-17.041	20.063	0.97692	0.0:0.0:1.0:0.0	.	87;63	Q8NFM7;Q8NFM7-3	I17RD_HUMAN;.	V	87;63	ENSP00000296318:A87V;ENSP00000399209:A63V	ENSP00000296318:A87V	A	-	2	0	IL17RD	57123810	0.999000	0.42202	0.603000	0.28903	0.996000	0.88848	8.125000	0.89590	2.735000	0.93741	0.655000	0.94253	GCT	IL17RD	-	NULL		0.517	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	G	NM_017563		57148770	-1	no_errors	ENST00000296318	ensembl	human	known	70_37	missense	SNP	0.981	A	A	57148770	G	A	57148770	3	1	13	1	0	0	0	0	1	0	0	0	7662	971	34	4	2003	4	IL17RD	3	57148770	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3249654	57148770	140873660	189	1633										
ACOX2	8309	genome.wustl.edu	37	chr3	58517055	58517055	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaagccattgtctgtttgatCaaagtccatcttgggtccga	10	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:58517055C>T	ENST00000302819.5	-	7	1033	c.742G>A	c.(742-744)Gat>Aat	p.D248N	ACOX2_ENST00000459701.2_Missense_Mutation_p.D248N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	248					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTGTTTGATCAAAGTCCATC	0.527																																																	0													156	129	138					3																	58517055		2203	4300	6503	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.742G>A	3.37:g.58517055C>T	ENSP00000307697:p.Asp248Asn		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.D248N	ENST00000302819.5	37	c.742	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641196	0.29157	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.62364	0.03;0.03	5.06	2.22	0.28083	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.692994	0.14032	N	0.346073	T	0.33933	0.0880	N	0.04768	-0.165	0.27922	N	0.938212	B	0.11235	0.004	B	0.14578	0.011	T	0.23976	-1.0173	10	0.02654	T	1	-17.5576	10.0107	0.41984	0.0:0.6451:0.2815:0.0734	.	248	Q99424	ACOX2_HUMAN	N	248	ENSP00000418562:D248N;ENSP00000307697:D248N	ENSP00000307697:D248N	D	-	1	0	ACOX2	58492095	0.809000	0.29036	0.017000	0.16124	0.576000	0.36127	1.582000	0.36568	0.226000	0.20979	0.655000	0.94253	GAT	ACOX2	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58517055	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	missense	SNP	0.965	T	T	58517055	C	T	58517055	3	4	13	1	0	0	0	0	1	0	0	0	159	826	29	1	1339	1	ACOX2	3	58517055	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1368285	58517055	139505375	190	1634										
PTPRG	5793	genome.wustl.edu	37	chr3	62180801	62180801	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgagtccaggccgtgtgtcgGaacgacatgcgcagcgactt	14	12	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:62180801G>A	ENST00000474889.1	+	10	1661	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PTPRG_ENST00000295874.10_Silent_p.R428R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	428	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTGTCGGAACGACATGC	0.547																																																	0													148	129	136					3																	62180801		2203	4300	6503	SO:0001819	synonymous_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1284G>A	3.37:g.62180801G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.R428	ENST00000474889.1	37	c.1284	CCDS2895.1	3																																																																																			PTPRG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841		62180801	1	no_errors	ENST00000474889	ensembl	human	known	70_37	silent	SNP	0.694	A	A	62180801	G	A	62180801	2	1	13	1	0	0	0	0	0	0	0	1	12832	1161	41	1		1	PTPRG	3	62180801	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3663746	62180801	135841629	191	1635										
FEZF2	55079	genome.wustl.edu	37	chr3	62358300	62358300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagtgtctttgacggcacctCgtagcctaggggctggaggg	16	10	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:62358300C>T	ENST00000283268.3	-	2	538	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FEZF2_ENST00000475839.1_Missense_Mutation_p.E82K|FEZF2_ENST00000486811.1_Missense_Mutation_p.E82K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	82					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GACGGCACCTCGTAGCCTAGG	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0													30	34	33					3																	62358300		2203	4300	6503	SO:0001583	missense	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.244G>A	3.37:g.62358300C>T	ENSP00000283268:p.Glu82Lys		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E82K	ENST00000283268.3	37	c.244	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395231	0.62066	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08984	3.03;3.03;3.03	5.1	5.1	0.69264	.	0.099870	0.64402	D	0.000001	T	0.08223	0.0205	L	0.50333	1.59	0.58432	D	0.999995	P	0.47545	0.897	B	0.24701	0.055	T	0.15954	-1.0419	10	0.72032	D	0.01	-15.3945	18.119	0.89565	0.0:1.0:0.0:0.0	.	82	Q8TBJ5	FEZF2_HUMAN	K	82	ENSP00000418589:E82K;ENSP00000283268:E82K;ENSP00000418804:E82K	ENSP00000283268:E82K	E	-	1	0	FEZF2	62333340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.399000	0.81585	0.555000	0.69702	GAG	FEZF2	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	C	NM_018008		62358300	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62358300	C	T	62358300	3	4	13	1	0	0	0	0	1	0	0	0	5844	893	31	1	1151	1	FEZF2	3	62358300	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	177499	62358300	135664130	192	1636										
PROS1	5627	genome.wustl.edu	37	chr3	93595938	93595938	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcgacaactccagattgtttCtgttgactctaaattccaga	6	10	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:93595938C>T	ENST00000394236.3	-	14	2058	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	PROS1_ENST00000407433.1_Missense_Mutation_p.R450K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	581	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAGATTGTTTCTGTTGACTCT	0.383																																																	0													126	118	120					3																	93595938		2203	4300	6503	SO:0001583	missense	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1742G>A	3.37:g.93595938C>T	ENSP00000377783:p.Arg581Lys		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.R581K	ENST00000394236.3	37	c.1742	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	2.308	-0.358599	0.05138	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77358	-1.09;-1.09	4.64	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.378734	0.30201	N	0.010164	T	0.66237	0.2769	L	0.39397	1.21	0.28795	N	0.899119	P	0.39044	0.656	B	0.42738	0.396	T	0.59311	-0.7478	10	0.05436	T	0.98	.	8.2366	0.31629	0.0:0.8153:0.0:0.1847	.	581	P07225	PROS_HUMAN	K	581;450	ENSP00000377783:R581K;ENSP00000385794:R450K	ENSP00000377783:R581K	R	-	2	0	PROS1	95078628	0.056000	0.20664	0.782000	0.31804	0.044000	0.14063	0.085000	0.14912	1.174000	0.42811	0.555000	0.69702	AGA	PROS1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	C	NM_000313		93595938	-1	no_errors	ENST00000394236	ensembl	human	known	70_37	missense	SNP	0.976	T	T	93595938	C	T	93595938	3	4	13	1	0	0	0	0	1	0	0	0	12585	913	32	1	296	1	PROS1	3	93595938	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	31237638	93595938	104426492	193	1637										
OR5H15	403274	genome.wustl.edu	37	chr3	97888151	97888151	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctaatggtttttattttctCaggttcaattcaggtattca	6	6	5	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:97888151C>G	ENST00000356526.2	+	1	608	c.608C>G	c.(607-609)tCa>tGa	p.S203*		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTTATTTTCTCAGGTTCAATT	0.313																																																	0													35	40	38					3																	97888151		2203	4296	6499	SO:0001587	stop_gained	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.608C>G	3.37:g.97888151C>G	ENSP00000373195:p.Ser203*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S203*	ENST00000356526.2	37	c.608	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	10.43	1.348808	0.24426	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	.	.	.	2.48	2.48	0.30137	.	0.310256	0.23491	N	0.047606	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.6024	0.22707	0.2847:0.7153:0.0:0.0	.	.	.	.	X	203	.	ENSP00000373195:S203X	S	+	2	0	OR5H15	99370841	0.000000	0.05858	0.012000	0.15200	0.007000	0.05969	-0.138000	0.10374	1.386000	0.46466	0.184000	0.17185	TCA	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.313	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	C			97888151	1	no_errors	ENST00000356526	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	97888151	C	G	97888151	4	3	13	1	0	0	0	0	0	1	0	0	11185	838	29	1	610	1	OR5H15	3	97888151	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4292213	97888151	100134279	194	1638										
FILIP1L	11259	genome.wustl.edu	37	chr3	99567922	99567922	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatggccctccttggatttCatccagggaatccatagctt	9	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:99567922C>T	ENST00000354552.3	-	5	3068	c.2598G>A	c.(2596-2598)atG>atA	p.M866I	FILIP1L_ENST00000471562.1_Missense_Mutation_p.M626I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.M442I|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.M866I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.M626I	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	866						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CCTTGGATTTCATCCAGGGAA	0.473																																																	0													146	135	138					3																	99567922		1909	4133	6042	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2598G>A	3.37:g.99567922C>T	ENSP00000346560:p.Met866Ile		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.M866I	ENST00000354552.3	37	c.2598	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954910	0.18431	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.25579	2.1;1.8;1.79;2.1;1.8;1.83	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000004	T	0.18467	0.0443	N	0.21097	0.63	0.33484	D	0.587828	B;B	0.17667	0.023;0.013	B;B	0.12156	0.007;0.005	T	0.13845	-1.0494	10	0.28530	T	0.3	-10.0488	13.6422	0.62257	0.0:0.9298:0.0:0.0702	.	866;866	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	866;442;626;866;626;612;626	ENSP00000346560:M866I;ENSP00000417774:M442I;ENSP00000419642:M626I;ENSP00000327880:M866I;ENSP00000373192:M626I;ENSP00000419874:M626I	ENSP00000327880:M866I	M	-	3	0	FILIP1L	101050612	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.311000	0.33562	2.840000	0.97914	0.655000	0.94253	ATG	FILIP1L	-	NULL		0.473	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	C	NM_014890		99567922	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99567922	C	T	99567922	3	4	13	1	0	0	0	0	1	0	0	0	5913	826	29	1	838	1	FILIP1L	3	99567922	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1679771	99567922	98454508	195	1639										
IMPG2	50939	genome.wustl.edu	37	chr3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcctcggtaccaccagttctCacccacccggcacctgcaac	7	20	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACCAGTTCTCACCCACCCGG	0.507																																																	2	Substitution - Missense(2)	lung(2)											196	167	177					3																	100949976		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3247G>A	3.37:g.100949976C>T	ENSP00000193391:p.Glu1083Lys		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1083K	ENST00000193391.7	37	c.3247	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724715	0.68959	.	.	ENSG00000081148	ENST00000193391	T	0.26067	1.76	5.91	4.06	0.47325	Epidermal growth factor-like, type 3 (1);	0.430497	0.23362	N	0.049011	T	0.26412	0.0645	L	0.54323	1.7	0.42318	D	0.992244	B;B	0.30937	0.301;0.301	B;B	0.30646	0.118;0.118	T	0.03394	-1.1041	10	0.48119	T	0.1	-2.9048	12.9447	0.58365	0.1326:0.7468:0.1206:0.0	.	1083;1083	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1083	ENSP00000193391:E1083K	ENSP00000193391:E1083K	E	-	1	0	IMPG2	102432666	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	3.726000	0.54977	0.768000	0.33290	0.650000	0.86243	GAG	IMPG2	-	NULL		0.507	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			100949976	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100949976	C	T	100949976	3	4	13	1	0	0	0	0	1	0	0	0	7749	835	29	1	494	1	IMPG2	3	100949976	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1382054	100949976	97072454	196	1640										
ZBTB11	27107	genome.wustl.edu	37	chr3	101384145	101384145	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagaaactgtgttattttctCtgttgtttgaagtttctagt	8	4	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:101384145C>G	ENST00000312938.4	-	4	1866	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTTATTTTCTCTGTTGTTTGA	0.353																																																	0													80	84	83					3																	101384145		2203	4299	6502	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1286G>C	3.37:g.101384145C>G	ENSP00000326200:p.Arg429Thr		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R429T	ENST00000312938.4	37	c.1286	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	1.449	-0.565509	0.03939	.	.	ENSG00000066422	ENST00000312938	T	0.10668	2.85	5.6	-1.79	0.07932	.	0.827409	0.11737	N	0.534348	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36212	-0.9757	10	0.33940	T	0.23	-0.8551	6.6603	0.23011	0.0:0.5038:0.1096:0.3866	.	429	O95625	ZBT11_HUMAN	T	429	ENSP00000326200:R429T	ENSP00000326200:R429T	R	-	2	0	ZBTB11	102866835	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.026000	0.12392	-0.409000	0.07553	-0.165000	0.13383	AGA	ZBTB11	-	NULL		0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	C	NM_014415		101384145	-1	no_errors	ENST00000312938	ensembl	human	known	70_37	missense	SNP	0.001	G	G	101384145	C	G	101384145	3	3	13	1	0	0	0	0	1	0	0	0	17554	913	32	1	1907	1	ZBTB11	3	101384145	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	434169	101384145	96638285	197	1641										
CEP97	79598	genome.wustl.edu	37	chr3	101475947	101475947	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgaaccaaagccaaaatgaaGagttgtctcctcttgttcct	7	10	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:101475947G>C	ENST00000341893.3	+	8	1686	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CEP97_ENST00000494050.1_Missense_Mutation_p.E312Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E312Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	312	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAAAATGAAGAGTTGTCTCC	0.393																																																	0													128	124	125					3																	101475947		2203	4300	6503	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.934G>C	3.37:g.101475947G>C	ENSP00000342510:p.Glu312Gln		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E312Q	ENST00000341893.3	37	c.934	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463758	0.63513	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53423	0.65;0.62;0.68	4.89	4.89	0.63831	.	0.116551	0.56097	D	0.000027	T	0.62245	0.2412	L	0.59436	1.845	0.28864	N	0.895338	D;D;D	0.71674	0.99;0.998;0.991	P;P;P	0.62813	0.743;0.907;0.764	T	0.58239	-0.7671	10	0.25106	T	0.35	-14.6129	18.0427	0.89323	0.0:0.0:1.0:0.0	.	312;312;312	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	Q	312	ENSP00000342510:E312Q;ENSP00000325881:E312Q;ENSP00000418185:E312Q	ENSP00000325881:E312Q	E	+	1	0	CEP97	102958637	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.343000	0.65976	2.234000	0.73211	0.313000	0.20887	GAG	CEP97	-	NULL		0.393	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	G	NM_024548		101475947	1	no_errors	ENST00000327230	ensembl	human	known	70_37	missense	SNP	0.994	C	C	101475947	G	C	101475947	3	2	13	1	0	0	0	0	1	0	0	0	3268	943	33	1	964	1	CEP97	3	101475947	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	91802	101475947	96546483	198	1642										
ZPLD1	131368	genome.wustl.edu	37	chr3	102157389	102157389	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagtgcttccggggtctgctCagttcaacggctacaactgt	12	11	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:102157389C>G	ENST00000491959.1	+	9	940	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	ZPLD1_ENST00000306176.1_Missense_Mutation_p.Q36E|ZPLD1_ENST00000466937.1_Missense_Mutation_p.Q20E			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	20						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GGGGTCTGCTCAGTTCAACGG	0.423																																																	0													137	123	128					3																	102157389		2203	4300	6503	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.58C>G	3.37:g.102157389C>G	ENSP00000420265:p.Gln20Glu		Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	p.Q36E	ENST00000491959.1	37	c.106		3	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158615	0.57368	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.80653	-1.38;-1.4;-1.38	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	L	0.36672	1.1	0.80722	D	1	P;P	0.37370	0.592;0.502	B;B	0.38500	0.275;0.187	T	0.72214	-0.4358	10	0.21540	T	0.41	-8.5124	18.2873	0.90118	0.0:1.0:0.0:0.0	.	36;20	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	E	20;36;20	ENSP00000420265:Q20E;ENSP00000307801:Q36E;ENSP00000418253:Q20E	ENSP00000307801:Q36E	Q	+	1	0	ZPLD1	103640079	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.472000	0.73567	2.316000	0.78162	0.591000	0.81541	CAG	ZPLD1	-	NULL		0.423	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	C	NM_175056		102157389	1	no_errors	ENST00000306176	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102157389	C	G	102157389	3	3	13	1	0	0	0	0	1	0	0	0	18251	827	29	1	112	1	ZPLD1	3	102157389	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	681442	102157389	95865041	199	1643										
KIAA1524	57650	genome.wustl.edu	37	chr3	108276072	108276072	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttactttatttacctctgaaGaagttccatgtaggattttg	7	6	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:108276072G>A	ENST00000295746.8	-	17	2279	c.2203C>T	c.(2203-2205)Ctt>Ttt	p.L735F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L576F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	735					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACCTCTGAAGAAGTTCCATG	0.363																																																	0													102	102	102					3																	108276072		2202	4300	6502	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2203C>T	3.37:g.108276072G>A	ENSP00000295746:p.Leu735Phe		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L735F	ENST00000295746.8	37	c.2203	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825618	0.50739	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.68479	-0.33;1.49	6.03	-1.13	0.09775	.	0.423848	0.28119	N	0.016538	T	0.47801	0.1465	L	0.27053	0.805	0.33697	D	0.614117	P	0.42757	0.789	B	0.41894	0.369	T	0.54403	-0.8299	10	0.51188	T	0.08	-0.6041	6.0044	0.19539	0.0611:0.1786:0.4369:0.3234	.	735	Q8TCG1	CIP2A_HUMAN	F	576;735	ENSP00000419487:L576F;ENSP00000295746:L735F	ENSP00000295746:L735F	L	-	1	0	KIAA1524	109758762	1.000000	0.71417	0.982000	0.44146	0.931000	0.56810	0.677000	0.25262	-0.099000	0.12263	-0.225000	0.12378	CTT	KIAA1524	-	NULL		0.363	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	G	NM_020890		108276072	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	missense	SNP	0.954	A	A	108276072	G	A	108276072	3	1	13	1	0	0	0	0	1	0	0	0	8259	942	33	1	534	1	KIAA1524	3	108276072	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6118683	108276072	89746358	200	1644										
ZNF80	7634	genome.wustl.edu	37	chr3	113955471	113955471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccagtgtgggtcacacgatGctggatgaagacagagtgat	14	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:113955471G>A	ENST00000482457.2	-	1	954	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	151					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.H151N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTCACACGATGCTGGATGAAG	0.488																																					GBM(23;986 1114 21716)												1	Substitution - Missense(1)	lung(1)											87	90	89					3																	113955471		2203	4300	6503	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.451C>T	3.37:g.113955471G>A	ENSP00000417192:p.His151Tyr		Q6NSW4|Q6NT14	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H151Y	ENST00000482457.2	37	c.451	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337220	0.60963	.	.	ENSG00000174255	ENST00000482457	D	0.86769	-2.17	3.23	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93083	0.7798	M	0.87971	2.92	0.19945	N	0.999947	D	0.89917	1.0	D	0.97110	1.0	D	0.83658	0.0159	9	0.87932	D	0	.	8.7984	0.34894	0.1176:0.0:0.8824:0.0	.	151	P51504	ZNF80_HUMAN	Y	151	ENSP00000417192:H151Y	ENSP00000309812:H151Y	H	-	1	0	ZNF80	115438161	1.000000	0.71417	0.009000	0.14445	0.156000	0.22039	6.439000	0.73430	0.919000	0.36945	0.655000	0.94253	CAT	ZNF80	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	HGNC	protein_coding	OTTHUMT00000354696.2	G	NM_007136		113955471	-1	no_errors	ENST00000308095	ensembl	human	known	70_37	missense	SNP	0.580	A	A	113955471	G	A	113955471	3	1	13	1	0	0	0	0	1	0	0	0	18198	1319	46	4	374	4	ZNF80	3	113955471	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5679399	113955471	84066959	201	1645										
POLQ	10721	genome.wustl.edu	37	chr3	121263718	121263718	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtttgccaatagtagcttgtCtctttcgtagtcaggaactg	10	8	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:121263718C>G	ENST00000264233.5	-	2	327	c.199G>C	c.(199-201)Gac>Cac	p.D67H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	67					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)			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)		AGTAGCTTGTCTCTTTCGTAG	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													97	94	95					3																	121263718		2203	4300	6503	SO:0001583	missense	10721			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.199G>C	3.37:g.121263718C>G	ENSP00000264233:p.Asp67His		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.D67H	ENST00000264233.5	37	c.199	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904150	0.72754	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.56103	0.48	5.68	5.68	0.88126	.	0.043480	0.85682	D	0.000000	T	0.53932	0.1827	L	0.58101	1.795	0.58432	D	0.999998	B	0.29936	0.262	B	0.29524	0.103	T	0.53194	-0.8473	10	0.51188	T	0.08	.	19.7786	0.96409	0.0:1.0:0.0:0.0	.	67	O75417	DPOLQ_HUMAN	H	67;202	ENSP00000264233:D67H	ENSP00000264233:D67H	D	-	1	0	POLQ	122746408	1.000000	0.71417	0.984000	0.44739	0.450000	0.32258	7.433000	0.80362	2.670000	0.90874	0.557000	0.71058	GAC	POLQ	-	NULL		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121263718	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121263718	C	G	121263718	3	3	13	1	0	0	0	0	1	0	0	0	12232	913	32	1	7689	1	POLQ	3	121263718	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7308247	121263718	76758712	202	1646										
FBXO40	51725	genome.wustl.edu	37	chr3	121340763	121340763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaaccaactatgaatggtGaaaccagtgtggaggaaatg	13	5	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:121340763G>A	ENST00000338040.4	+	3	901	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	163					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TATGAATGGTGAAACCAGTGT	0.502																																																	0													105	113	110					3																	121340763		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.487G>A	3.37:g.121340763G>A	ENSP00000337510:p.Glu163Lys		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.E163K	ENST00000338040.4	37	c.487	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.094869	0.00364	.	.	ENSG00000163833	ENST00000338040	T	0.42131	0.98	5.46	4.59	0.56863	.	0.506225	0.20763	N	0.086136	T	0.22859	0.0552	L	0.29908	0.895	0.09310	N	1	P	0.35272	0.493	B	0.27380	0.079	T	0.14364	-1.0475	10	0.07482	T	0.82	-5.9437	8.3707	0.32412	0.1765:0.0:0.8235:0.0	.	163	Q9UH90	FBX40_HUMAN	K	163	ENSP00000337510:E163K	ENSP00000337510:E163K	E	+	1	0	FBXO40	122823453	0.114000	0.22134	0.018000	0.16275	0.001000	0.01503	2.158000	0.42329	1.327000	0.45338	-0.142000	0.14014	GAA	FBXO40	-	NULL		0.502	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	G	NM_016298		121340763	1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	0.022	A	A	121340763	G	A	121340763	3	1	13	1	0	0	0	0	1	0	0	0	5767	1291	45	1	493	1	FBXO40	3	121340763	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	77045	121340763	76681667	203	1647										
PARP14	54625	genome.wustl.edu	37	chr3	122432725	122432725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attttctcatgtaggggtctCcaaagcaattttagaatgtg	9	6	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:122432725C>G	ENST00000474629.2	+	11	4042	c.3776C>G	c.(3775-3777)tCc>tGc	p.S1259C		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1259	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTAGGGGTCTCCAAAGCAATT	0.348																																																	0													194	171	178					3																	122432725		1833	4085	5918	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3776C>G	3.37:g.122432725C>G	ENSP00000418194:p.Ser1259Cys		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1259C	ENST00000474629.2	37	c.3776	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178107	0.78564	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.22743	1.94	5.51	5.51	0.81932	Appr-1-p processing (3);	0.000000	0.64402	D	0.000002	T	0.48572	0.1507	M	0.75884	2.315	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32481	-0.9905	10	0.45353	T	0.12	.	18.1516	0.89676	0.0:1.0:0.0:0.0	.	1259;1259	Q460N5-4;Q460N5	.;PAR14_HUMAN	C	1259;1178;255	ENSP00000418194:S1259C	ENSP00000381224:S255C	S	+	2	0	PARP14	123915415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.977000	0.29475	2.868000	0.98415	0.557000	0.71058	TCC	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.348	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122432725	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122432725	C	G	122432725	3	3	13	1	0	0	0	0	1	0	0	0	11482	855	30	1	3818	1	PARP14	3	122432725	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1091962	122432725	75589705	204	1648										
MYLK	4638	genome.wustl.edu	37	chr3	123385156	123385156	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gactctcctgcgcgtaccttCtggtcctcagggaactggat	11	13	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:123385156C>T	ENST00000475616.1	-	19	3740	c.3741G>A	c.(3739-3741)caG>caA	p.Q1247Q	MYLK_ENST00000359169.1_Silent_p.Q1247Q|MYLK_ENST00000346322.5_Silent_p.Q1178Q|MYLK_ENST00000360304.3_Silent_p.Q1247Q|MYLK_ENST00000354792.5_Silent_p.Q47Q|MYLK_ENST00000360772.3_Silent_p.Q1247Q|MYLK_ENST00000510775.1_5'UTR			Q15746	MYLK_HUMAN	myosin light chain kinase	1247	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGCGTACCTTCTGGTCCTCAG	0.557																																																	0													102	76	84					3																	123385156		2203	4300	6503	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3741G>A	3.37:g.123385156C>T			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q1247	ENST00000475616.1	37	c.3741	CCDS46896.1	3																																																																																			MYLK	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	C	NM_053025		123385156	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	silent	SNP	0.988	T	T	123385156	C	T	123385156	2	4	13	1	0	0	0	0	0	0	0	1	10079	912	32	1		1	MYLK	3	123385156	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	952431	123385156	74637274	205	1649										
SLC41A3	54946	genome.wustl.edu	37	chr3	125727581	125727581	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcagccaggcttacctggatCaggcctgccagcaggtagag	14	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:125727581C>T	ENST00000315891.6	-	10	1486	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	SLC41A3_ENST00000346785.5_Silent_p.L380L|SLC41A3_ENST00000383598.2_Silent_p.L390L|SLC41A3_ENST00000360370.4_Silent_p.L416L|SLC41A3_ENST00000508835.1_Silent_p.L299L	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TTACCTGGATCAGGCCTGCCA	0.552																																																	0													74	66	68					3																	125727581		2203	4300	6503	SO:0001819	synonymous_variant	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1248G>A	3.37:g.125727581C>T			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase	p.L416	ENST00000315891.6	37	c.1248	CCDS33843.1	3																																																																																			SLC41A3	-	pfam_MgtE_Mg_transptr_membr		0.552	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	C	NM_017836		125727581	-1	no_errors	ENST00000315891	ensembl	human	known	70_37	silent	SNP	0.977	T	T	125727581	C	T	125727581	2	4	13	1	0	0	0	0	0	0	0	1	14661	813	29	1		1	SLC41A3	3	125727581	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2342425	125727581	72294849	206	1650										
TMEM108	66000	genome.wustl.edu	37	chr3	133109176	133109176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccagtcccttgaaacctctGaggtaatgagcttgaaagtg	10	9	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:133109176G>C	ENST00000321871.6	+	5	1813	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	TMEM108_ENST00000393130.3_Missense_Mutation_p.E535Q|TMEM108_ENST00000508711.1_Missense_Mutation_p.E65Q	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532																																																	0													206	200	202					3																	133109176		2203	4300	6503	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1603G>C	3.37:g.133109176G>C	ENSP00000324651:p.Glu535Gln		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.E535Q	ENST00000321871.6	37	c.1603	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451652	0.43531	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.67698	-0.28;-0.28	5.14	4.25	0.50352	.	0.302594	0.25283	N	0.031790	T	0.78984	0.4370	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.67548	0.634;0.952	T	0.80799	-0.1221	10	0.62326	D	0.03	-14.7874	14.8464	0.70264	0.0:0.0:0.8549:0.1451	.	65;535	B3KT64;Q6UXF1	.;TM108_HUMAN	Q	535;535;65	ENSP00000324651:E535Q;ENSP00000376838:E535Q	ENSP00000324651:E535Q	E	+	1	0	TMEM108	134591866	1.000000	0.71417	0.923000	0.36655	0.699000	0.40488	9.025000	0.93694	1.125000	0.41998	0.655000	0.94253	GAG	TMEM108	-	NULL		0.532	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	G	NM_023943		133109176	1	no_errors	ENST00000321871	ensembl	human	known	70_37	missense	SNP	0.998	C	C	133109176	G	C	133109176	3	2	13	1	0	0	0	0	1	0	0	0	16054	1291	45	1	1613	1	TMEM108	3	133109176	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7381595	133109176	64913254	207	1651										
STAG1	10274	genome.wustl.edu	37	chr3	136141690	136141690	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtttgctaccttctctgcatCtgcagaatactagaaggaga	9	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:136141690C>T	ENST00000383202.2	-	18	2009	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	STAG1_ENST00000434713.2_Missense_Mutation_p.D359N|STAG1_ENST00000236698.5_Missense_Mutation_p.D585N|STAG1_ENST00000536929.1_Missense_Mutation_p.D169N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	585					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCTCTGCATCTGCAGAATAC	0.333																																																	0													70	68	68					3																	136141690		2202	4298	6500	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1753G>A	3.37:g.136141690C>T	ENSP00000372689:p.Asp585Asn		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.D585N	ENST00000383202.2	37	c.1753	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.265397	0.95399	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.86	5.86	0.93980	Armadillo-type fold (1);	0.093907	0.64402	D	0.000001	T	0.40372	0.1114	M	0.72479	2.2	0.80722	D	1	P;D;P	0.62365	0.939;0.991;0.939	P;P;P	0.58721	0.601;0.844;0.601	T	0.05699	-1.0869	10	0.54805	T	0.06	.	20.2359	0.98356	0.0:1.0:0.0:0.0	.	602;585;585	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	N	585;585;359;169	ENSP00000372689:D585N;ENSP00000236698:D585N;ENSP00000404396:D359N;ENSP00000445787:D169N	ENSP00000236698:D585N	D	-	1	0	STAG1	137624380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.551000	0.82182	2.787000	0.95880	0.650000	0.86243	GAT	STAG1	-	superfamily_ARM-type_fold		0.333	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	C	NM_005862		136141690	-1	no_errors	ENST00000383202	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136141690	C	T	136141690	3	4	13	1	0	0	0	0	1	0	0	0	15272	913	32	1	2091	1	STAG1	3	136141690	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3032514	136141690	61880740	208	1652										
GYG1	2992	genome.wustl.edu	37	chr3	148711992	148711992	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggtgccctggtcctgggatCatctctgaaacagcacagga	12	11	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:148711992C>T	ENST00000345003.4	+	2	371	c.71C>T	c.(70-72)tCa>tTa	p.S24L	GYG1_ENST00000483267.1_Missense_Mutation_p.S24L|GYG1_ENST00000484197.1_Missense_Mutation_p.S24L|GYG1_ENST00000296048.6_Missense_Mutation_p.S24L	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	24					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCCTGGGATCATCTCTGAAA	0.522																																																	0													72	69	70					3																	148711992		2203	4300	6503	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.71C>T	3.37:g.148711992C>T	ENSP00000340736:p.Ser24Leu		D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.S24L	ENST00000345003.4	37	c.71	CCDS3139.1	3	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195002	0.58017	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000461191	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.31	4.43	0.53597	.	0.200537	0.43919	N	0.000516	T	0.35682	0.0940	L	0.36672	1.1	0.47009	D	0.999281	B;B;B;B	0.17268	0.009;0.021;0.001;0.021	B;B;B;B	0.21546	0.024;0.035;0.005;0.023	T	0.12760	-1.0535	10	0.46703	T	0.11	-0.0049	13.9553	0.64144	0.0:0.9271:0.0:0.0729	.	24;24;24;24	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	L	24	ENSP00000340736:S24L;ENSP00000296048:S24L;ENSP00000419499:S24L;ENSP00000420683:S24L;ENSP00000420247:S24L	ENSP00000296048:S24L	S	+	2	0	GYG1	150194682	0.998000	0.40836	0.983000	0.44433	0.991000	0.79684	3.888000	0.56204	1.239000	0.43787	0.650000	0.86243	TCA	GYG1	-	pfam_Glyco_trans_8		0.522	GYG1-001	KNOWN	basic|CCDS	protein_coding	GYG1	HGNC	protein_coding	OTTHUMT00000356046.1	C	NM_004130		148711992	1	no_errors	ENST00000345003	ensembl	human	known	70_37	missense	SNP	0.989	T	T	148711992	C	T	148711992	3	4	13	1	0	0	0	0	1	0	0	0	6925	838	29	1	77	1	GYG1	3	148711992	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	12570302	148711992	49310438	209	1653										
MED12L	116931	genome.wustl.edu	37	chr3	151131027	151131027	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttccctccgtgcccctgcctCaggatcccatgagacccaga	8	18	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:151131027C>T	ENST00000474524.1	+	40	6174	c.6136C>T	c.(6136-6138)Cag>Tag	p.Q2046*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2046	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCCCTGCCTCAGGATCCCAT	0.592																																																	0													73	68	69					3																	151131027		2203	4300	6503	SO:0001587	stop_gained	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6136C>T	3.37:g.151131027C>T	ENSP00000417235:p.Gln2046*		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.Q2046*	ENST00000474524.1	37	c.6136	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	47	13.326269	0.99735	.	.	ENSG00000144893	ENST00000474524	.	.	.	5.33	5.33	0.75918	.	0.202601	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-15.0679	16.8214	0.85747	0.0:1.0:0.0:0.0	.	.	.	.	X	2046	.	ENSP00000417235:Q2046X	Q	+	1	0	MED12L	152613717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.219000	0.65262	2.495000	0.84180	0.655000	0.94253	CAG	MED12L	-	NULL		0.592	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151131027	1	no_errors	ENST00000474524	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	151131027	C	T	151131027	4	4	13	1	0	0	0	0	0	1	0	0	9452	827	29	1	6294	1	MED12L	3	151131027	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2419035	151131027	46891403	210	1654										
B3GALNT1	8706	genome.wustl.edu	37	chr3	160803991	160803991	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actaaattgccagtattgatGaaaacatcagtgtctgtctt	7	7	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:160803991G>T	ENST00000392781.2	-	8	1299	c.552C>A	c.(550-552)ttC>ttA	p.F184L	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.F184L|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.F184L|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.F184L|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.F184L|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.F184L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	184					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CAGTATTGATGAAAACATCAG	0.358																																																	0													48	47	47					3																	160803991		2203	4300	6503	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.552C>A	3.37:g.160803991G>T	ENSP00000376532:p.Phe184Leu		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.F184L	ENST00000392781.2	37	c.552	CCDS3193.1	3	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095837	0.36952	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.94	0.587	0.17439	.	0.077728	0.56097	D	0.000034	T	0.41604	0.1166	M	0.71206	2.165	0.42698	D	0.993604	B	0.29716	0.255	B	0.33042	0.157	T	0.42396	-0.9454	10	0.62326	D	0.03	.	10.5733	0.45212	0.4289:0.0:0.5711:0.0	.	184	O75752	B3GL1_HUMAN	L	184	ENSP00000323479:F184L;ENSP00000376530:F184L;ENSP00000376531:F184L;ENSP00000376532:F184L;ENSP00000418226:F184L;ENSP00000420163:F184L	ENSP00000323479:F184L	F	-	3	2	B3GALNT1	162286685	0.238000	0.23825	0.990000	0.47175	0.578000	0.36192	0.341000	0.19909	0.144000	0.18951	0.561000	0.74099	TTC	B3GALNT1	-	pfam_Glyco_trans_31,pfam_Fringe-like		0.358	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	HGNC	protein_coding	OTTHUMT00000353125.1	G	NM_033167		160803991	-1	no_errors	ENST00000320474	ensembl	human	known	70_37	missense	SNP	0.980	T	T	160803991	G	T	160803991	3	4	13	1	0	0	0	0	1	0	0	0	1246	1281	45	3	447	3	B3GALNT1	3	160803991	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9672964	160803991	37218439	211	1655										
BCHE	590	genome.wustl.edu	37	chr3	165548329	165548329	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgacactacaataactctttCaacccgagccagaaacttgc	5	13	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:165548329C>T	ENST00000264381.3	-	2	659	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	165					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ATAACTCTTTCAACCCGAGCC	0.413																																																	0													54	56	55					3																	165548329		2203	4300	6503	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.493G>A	3.37:g.165548329C>T	ENSP00000264381:p.Glu165Lys		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E165K	ENST00000264381.3	37	c.493	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187141	0.78789	.	.	ENSG00000114200	ENST00000264381	T	0.66995	-0.24	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82070	-0.0639	10	0.87932	D	0	.	18.6512	0.91431	0.0:1.0:0.0:0.0	.	165	P06276	CHLE_HUMAN	K	165	ENSP00000264381:E165K	ENSP00000264381:E165K	E	-	1	0	BCHE	167031023	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.699000	0.84547	2.648000	0.89879	0.655000	0.94253	GAA	BCHE	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase		0.413	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	C			165548329	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	165548329	C	T	165548329	3	4	13	1	0	0	0	0	1	0	0	0	1359	835	29	1	1327	1	BCHE	3	165548329	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4744338	165548329	32474101	212	1656										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	13	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	13387762	178936091	19086339	213	1657										
YEATS2	55689	genome.wustl.edu	37	chr3	183495367	183495367	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagccatcaccccagacttCtggaaaacaactcaccactg	5	17	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:183495367C>G	ENST00000305135.5	+	19	2810	c.2615C>G	c.(2614-2616)tCt>tGt	p.S872C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	872					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGACTTCTGGAAAACAA	0.433																																																	0													93	87	89					3																	183495367		2002	4190	6192	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2615C>G	3.37:g.183495367C>G	ENSP00000306983:p.Ser872Cys		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S872C	ENST00000305135.5	37	c.2615	CCDS43175.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.987807|4.987807	0.93106|0.93106	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000432781|ENST00000421660;ENST00000305135	.|D	.|0.86097	.|-2.07	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.145357	.|0.47852	.|D	.|0.000203	D|D	0.83008|0.83008	0.5161|0.5161	N|N	0.24115|0.24115	0.695|0.695	0.51012|0.51012	D|D	0.999907|0.999907	.|D	.|0.61697	.|0.99	.|P	.|0.48901	.|0.594	D|D	0.85431|0.85431	0.1149|0.1149	5|10	.|0.72032	.|D	.|0.01	-8.3363|-8.3363	19.7885|19.7885	0.96447|0.96447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|872	.|Q9ULM3	.|YETS2_HUMAN	L|C	57|872	.|ENSP00000306983:S872C	.|ENSP00000306983:S872C	F|S	+|+	3|2	2|0	YEATS2|YEATS2	184978061|184978061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.710000|6.710000	0.74670|0.74670	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	TTC|TCT	YEATS2	-	NULL		0.433	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183495367	1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183495367	C	G	183495367	3	3	13	1	0	0	0	0	1	0	0	0	17503	913	32	1	2685	1	YEATS2	3	183495367	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4559276	183495367	14527063	214	1658										
HTR3D	200909	genome.wustl.edu	37	chr3	183754187	183754187	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatcagacacctgcaggtctCatggctagtatgtcaatagt	10	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:183754187C>T	ENST00000382489.3	+	4	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Silent_p.L74L|HTR3D_ENST00000334128.2_5'UTR	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	135					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CTGCAGGTCTCATGGCTAGTA	0.507																																																	0													121	95	103					3																	183754187		2203	4300	6503	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.405C>T	3.37:g.183754187C>T			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L135	ENST00000382489.3	37	c.405	CCDS54685.1	3																																																																																			HTR3D	-	superfamily_Neur_chan_lig-bd		0.507	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183754187	1	no_errors	ENST00000382489	ensembl	human	known	70_37	silent	SNP	0.901	T	T	183754187	C	T	183754187	2	4	13	1	0	0	0	0	0	0	0	1	7467	813	29	1		1	HTR3D	3	183754187	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	258820	183754187	14268243	215	1659										
C3orf70	285382	genome.wustl.edu	37	chr3	184800813	184800813	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctcacacagtcgtttctatCgtttcaatcacttccaggtc	5	13	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:184800813C>T	ENST00000335012.2	-	2	925	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	245										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TCGTTTCTATCGTTTCAATCA	0.522																																																	0													123	126	125					3																	184800813		2203	4300	6503	SO:0001819	synonymous_variant	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.735G>A	3.37:g.184800813C>T			B2RNY2|B9EH83	Silent	SNP	NULL	p.T245	ENST00000335012.2	37	c.735	CCDS33900.1	3																																																																																			C3orf70	-	NULL		0.522	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	C	NM_001025266		184800813	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	silent	SNP	0.000	T	T	184800813	C	T	184800813	2	4	13	1	0	0	0	0	0	0	0	1	2247	871	31	1		1	C3orf70	3	184800813	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1046626	184800813	13221617	216	1660										
IL1RAP	3556	genome.wustl.edu	37	chr3	190363541	190363541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caaggaatgcggaagaagaaGaatttgtattactgaccctc	10	7	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:190363541G>C	ENST00000412504.2	+	10	1507	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	IL1RAP_ENST00000072516.3_Missense_Mutation_p.E419Q|IL1RAP_ENST00000439062.1_Missense_Mutation_p.E419Q|IL1RAP_ENST00000443369.2_Missense_Mutation_p.E419Q|IL1RAP_ENST00000317757.3_Missense_Mutation_p.E419Q|IL1RAP_ENST00000447382.1_Missense_Mutation_p.E419Q			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	419	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GGAAGAAGAAGAATTTGTATT	0.388																																																	0													110	108	109					3																	190363541		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1255G>C	3.37:g.190363541G>C	ENSP00000412053:p.Glu419Gln		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.E419Q	ENST00000412504.2	37	c.1255	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062878	0.36373	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.219343	0.47455	D	0.000229	T	0.07007	0.0178	N	0.16833	0.445	0.49798	D	0.999826	P;B	0.43578	0.811;0.437	B;B	0.43623	0.425;0.349	T	0.12604	-1.0541	10	0.02654	T	1	.	18.678	0.91535	0.0:0.0:1.0:0.0	.	419;419	Q9NPH3-5;Q9NPH3	.;IL1AP_HUMAN	Q	419	ENSP00000072516:E419Q;ENSP00000408893:E419Q;ENSP00000412053:E419Q;ENSP00000401132:E419Q;ENSP00000390541:E419Q;ENSP00000314807:E419Q	ENSP00000072516:E419Q	E	+	1	0	IL1RAP	191846235	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.745000	0.62125	2.669000	0.90835	0.655000	0.94253	GAA	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.388	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	G			190363541	1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	1.000	C	C	190363541	G	C	190363541	3	2	13	1	0	0	0	0	1	0	0	0	7680	943	33	1	1309	1	IL1RAP	3	190363541	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5562728	190363541	7658889	217	1661										
IL1RAP	3556	genome.wustl.edu	37	chr3	190373990	190373990	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagaagtctgagtgccagttCtggctggaatgagagctgct	15	7	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:190373990C>G	ENST00000317757.3	+	12	1864	c.1658C>G	c.(1657-1659)tCt>tGt	p.S553C	IL1RAP_ENST00000443369.2_Missense_Mutation_p.S553C	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	555					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGTGCCAGTTCTGGCTGGAAT	0.493																																																	0													36	36	36					3																	190373990		692	1591	2283	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1658C>G	3.37:g.190373990C>G	ENSP00000314807:p.Ser553Cys		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.S553C	ENST00000317757.3	37	c.1658	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053774	0.55218	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01613	4.73;4.73	5.51	5.51	0.81932	.	.	.	.	.	T	0.08492	0.0211	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.02632	-1.1131	9	0.62326	D	0.03	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	553	Q9NPH3-5	.	C	553	ENSP00000408893:S553C;ENSP00000314807:S553C	ENSP00000314807:S553C	S	+	2	0	IL1RAP	191856684	0.025000	0.19082	0.983000	0.44433	0.927000	0.56198	2.673000	0.46858	2.577000	0.86979	0.561000	0.74099	TCT	IL1RAP	-	NULL		0.493	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190373990	1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	0.988	G	G	190373990	C	G	190373990	3	3	13	1	0	0	0	0	1	0	0	0	7680	913	32	1	2088	1	IL1RAP	3	190373990	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	10449	190373990	7648440	218	1662										
MUC4	4585	genome.wustl.edu	37	chr3	195475853	195475853	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgcacggggacacgcaggtGaagccgctctgggggctgta	17	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:195475853G>A	ENST00000346145.4	-	23	3285	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F	MUC4_ENST00000475231.1_Silent_p.F5266F|MUC4_ENST00000349607.4_Silent_p.F1031F|MUC4_ENST00000463781.3_Silent_p.F5318F	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2075					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACGCAGGTGAAGCCGCTCT	0.632																																																	0													74	65	68					3																	195475853		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3246C>T	3.37:g.195475853G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.F5318	ENST00000346145.4	37	c.15954	CCDS3310.1	3																																																																																			MUC4	-	NULL		0.632	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195475853	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.993	A	A	195475853	G	A	195475853	2	1	13	1	0	0	0	0	0	0	0	1	10001	1281	45	1		1	MUC4	3	195475853	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5101863	195475853	2546577	219	1663										
ZNF732	654254	genome.wustl.edu	37	chr4	266185	266185	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcctacgttggtttgaatttGaaaatgtactaaatactttg	7	5	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:266185G>C	ENST00000419098.1	-	4	471	c.461C>G	c.(460-462)tCa>tGa	p.S154*		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						GTTTGAATTTGAAAATGTACT	0.338																																																	0													180	147	157					4																	266185		692	1591	2283	SO:0001587	stop_gained	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.461C>G	4.37:g.266185G>C	ENSP00000415774:p.Ser154*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S154*	ENST00000419098.1	37	c.461	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	7.431	0.638709	0.14386	.	.	ENSG00000186777	ENST00000419098	.	.	.	0.946	-0.719	0.11201	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.735	0.08507	0.3365:0.0:0.6635:0.0	.	.	.	.	X	154	.	ENSP00000415774:S154X	S	-	2	0	ZNF732	256185	0.009000	0.17119	0.003000	0.11579	0.003000	0.03518	1.224000	0.32539	-0.503000	0.06586	-0.498000	0.04607	TCA	ZNF732	-	NULL		0.338	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	G	NM_001137608		266185	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	266185	G	C	266185	4	2	13	1	0	0	0	0	0	1	0	0	18153	1294	45	1	1300	1	ZNF732	4	266185	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		266185	190888091	220	1664										
WHSC1	7468	genome.wustl.edu	37	chr4	1918753	1918753	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcaggcacccacgaaagctGagaaaattaaggtgatagat	11	7	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:1918753G>A	ENST00000382895.3	+	6	1347	c.916G>A	c.(916-918)Gag>Aag	p.E306K	WHSC1_ENST00000382892.2_Missense_Mutation_p.E306K|WHSC1_ENST00000382891.5_Missense_Mutation_p.E306K|WHSC1_ENST00000508803.1_Missense_Mutation_p.E306K|WHSC1_ENST00000398261.1_Missense_Mutation_p.E306K|WHSC1_ENST00000420906.2_Missense_Mutation_p.E306K|WHSC1_ENST00000503128.1_Missense_Mutation_p.E306K|WHSC1_ENST00000514045.1_Missense_Mutation_p.E306K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	306					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CACGAAAGCTGAGAAAATTAA	0.353			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													55	58	57					4																	1918753		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.916G>A	4.37:g.1918753G>A	ENSP00000372351:p.Glu306Lys		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.E306K	ENST00000382895.3	37	c.916	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387880	0.82902	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000015	T	0.81870	0.4914	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.999;0.999	D;P;D;D	0.81914	0.995;0.784;0.995;0.995	T	0.76435	-0.2960	10	0.23302	T	0.38	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	306;306;306;306	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	K	306	ENSP00000423972:E306K;ENSP00000421681:E306K;ENSP00000372347:E306K;ENSP00000372348:E306K;ENSP00000399251:E306K;ENSP00000372351:E306K;ENSP00000425761:E306K;ENSP00000422878:E306K;ENSP00000381311:E306K	ENSP00000308780:E306K	E	+	1	0	WHSC1	1888551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.328000	0.65887	2.717000	0.92951	0.655000	0.94253	GAG	WHSC1	-	NULL		0.353	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1918753	1	no_errors	ENST00000382891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1918753	G	A	1918753	3	1	13	1	0	0	0	0	1	0	0	0	17393	1291	45	1	926	1	WHSC1	4	1918753	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1652568	1918753	189235523	221	1665										
WHSC1	7468	genome.wustl.edu	37	chr4	1919928	1919928	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatgggcattgttcaagcaGaagaagctgcaagcatgtca	11	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:1919928G>T	ENST00000382895.3	+	7	1419	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	WHSC1_ENST00000382892.2_Nonsense_Mutation_p.E330*|WHSC1_ENST00000382891.5_Nonsense_Mutation_p.E330*|WHSC1_ENST00000508803.1_Nonsense_Mutation_p.E330*|WHSC1_ENST00000398261.1_Nonsense_Mutation_p.E330*|WHSC1_ENST00000420906.2_Nonsense_Mutation_p.E330*|WHSC1_ENST00000503128.1_Nonsense_Mutation_p.E330*|WHSC1_ENST00000514045.1_Nonsense_Mutation_p.E330*	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	330					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTTCAAGCAGAAGAAGCTGC	0.473			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													68	68	68					4																	1919928		2203	4300	6503	SO:0001587	stop_gained	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.988G>T	4.37:g.1919928G>T	ENSP00000372351:p.Glu330*		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Nonsense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.E330*	ENST00000382895.3	37	c.988	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.342544	0.95783	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	.	.	.	5.39	3.39	0.38822	.	0.725622	0.12448	N	0.468056	.	.	.	.	.	.	0.32694	N	0.513827	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	2.4153	0.04435	0.4611:0.283:0.2559:0.0	.	.	.	.	X	330	.	ENSP00000308780:E330X	E	+	1	0	WHSC1	1889726	0.787000	0.28750	0.001000	0.08648	0.994000	0.84299	3.934000	0.56553	0.508000	0.28173	0.561000	0.74099	GAA	WHSC1	-	NULL		0.473	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1919928	1	no_errors	ENST00000382891	ensembl	human	known	70_37	nonsense	SNP	0.233	T	T	1919928	G	T	1919928	4	4	13	1	0	0	0	0	0	1	0	0	17393	943	33	3	1002	3	WHSC1	4	1919928	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1175	1919928	189234348	222	1666										
AFAP1	60312	genome.wustl.edu	37	chr4	7873716	7873716	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttagcagaatgttggttatCactgcctttttctccctgac	7	11	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:7873716C>T	ENST00000360265.4	-	1	324	c.90G>A	c.(88-90)gtG>gtA	p.V30V	AFAP1_ENST00000420658.1_Silent_p.V30V|AFAP1_ENST00000382543.3_Silent_p.V30V|AFAP1_ENST00000358461.2_Silent_p.V30V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGTTGGTTATCACTGCCTTTT	0.408																																																	0													282	248	259					4																	7873716		2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.90G>A	4.37:g.7873716C>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V30	ENST00000360265.4	37	c.90	CCDS3397.1	4																																																																																			AFAP1	-	NULL		0.408	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	C	NM_021638		7873716	-1	no_errors	ENST00000420658	ensembl	human	known	70_37	silent	SNP	0.001	T	T	7873716	C	T	7873716	2	4	13	1	0	0	0	0	0	0	0	1	353	813	29	1		1	AFAP1	4	7873716	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5953788	7873716	183280560	223	1667										
CPEB2	132864	genome.wustl.edu	37	chr4	15004565	15004565	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctccccgttcctggcgcatCagcagaccatgcaggatgag	11	15	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:15004565C>T	ENST00000507071.1	+	0	0				RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_5'Flank|CPEB2_ENST00000259997.5_5'Flank|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q90*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q90*|CPEB2_ENST00000382401.3_5'Flank|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q90*|CPEB2_ENST00000345451.3_5'Flank			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CCTGGCGCATCAGCAGACCAT	0.731																																																	0																																										SO:0001631	upstream_gene_variant	132864			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669		4.37:g.15004565C>T	Exception_encountered		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q90*	ENST00000507071.1	37	c.268		4	.	.	.	.	.	.	.	.	.	.	c	34	5.302318	0.95601	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003	.	.	.	2.71	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.432	0.32764	0.2318:0.7682:0.0:0.0	.	.	.	.	X	90	.	ENSP00000414270:Q90X	Q	+	1	0	CPEB2	14613663	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	2.708000	0.47152	1.521000	0.48983	0.424000	0.28305	CAG	CPEB2	-	NULL		0.731	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	C	XM_059607		15004565	1	no_errors	ENST00000538197	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	15004565	C	T	15004565	1	4	13	0	1	0	0	0	0	0	0	0	3806	827	29	1		1	CPEB2	4	15004565	5'Flank	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7130849	15004565	176149711	224	1668										
CC2D2A	57545	genome.wustl.edu	37	chr4	15575827	15575827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttctgggctacagtaagGagcgaaatatgattcttgag	11	6	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:15575827G>C	ENST00000503292.1	+	30	3829	c.3649G>C	c.(3649-3651)Gag>Cag	p.E1217Q	CC2D2A_ENST00000389652.5_Intron|CC2D2A_ENST00000424120.1_Missense_Mutation_p.E1217Q|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E1217Q	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1217					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTACAGTAAGGAGCGAAATAT	0.413																																																	0													166	142	149					4																	15575827		692	1591	2283	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3649G>C	4.37:g.15575827G>C	ENSP00000421809:p.Glu1217Gln		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.E1217Q	ENST00000503292.1	37	c.3649	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238412	0.39598	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000503292	D;D;D	0.96619	-4.07;-4.07;-4.07	4.91	4.91	0.64330	.	.	.	.	.	D	0.93268	0.7855	L	0.38175	1.15	0.80722	D	1	P	0.35656	0.514	B	0.36186	0.219	D	0.92571	0.6066	9	0.39692	T	0.17	.	14.129	0.65240	0.0:0.1502:0.8498:0.0	.	1217	Q9P2K1	C2D2A_HUMAN	Q	1217	ENSP00000403465:E1217Q;ENSP00000398391:E1217Q;ENSP00000421809:E1217Q	ENSP00000398391:E1217Q	E	+	1	0	CC2D2A	15184925	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	7.584000	0.82572	2.430000	0.82344	0.563000	0.77884	GAG	CC2D2A	-	NULL		0.413	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15575827	1	no_errors	ENST00000413206	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15575827	G	C	15575827	3	2	13	1	0	0	0	0	1	0	0	0	2733	1175	41	1	3962	1	CC2D2A	4	15575827	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	571262	15575827	175578449	225	1669										
STIM2	57620	genome.wustl.edu	37	chr4	27019575	27019575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcgaaatgaagaggaggaaGaggccatttacttctctgct	11	7	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:27019575G>C	ENST00000467011.1	+	11	2157	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	STIM2_ENST00000465503.1_Missense_Mutation_p.E586Q|STIM2_ENST00000237364.5_Missense_Mutation_p.E665Q|STIM2_ENST00000467087.1_Missense_Mutation_p.E578Q|STIM2_ENST00000382009.3_Missense_Mutation_p.E673Q|STIM2_ENST00000412829.2_Missense_Mutation_p.E665Q	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	578					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGAGGAGGAAGAGGCCATTTA	0.527																																																	0													254	249	251					4																	27019575		2203	4300	6503	SO:0001583	missense	57620			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1732G>C	4.37:g.27019575G>C	ENSP00000419383:p.Glu578Gln		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.E673Q	ENST00000467011.1	37	c.2017	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299552	0.81136	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.36672	1.1	0.54753	D	0.999989	P;D;D;D	0.63880	0.941;0.988;0.988;0.993	P;P;P;D	0.63033	0.616;0.815;0.815;0.91	T	0.60596	-0.7232	10	0.56958	D	0.05	.	18.9976	0.92819	0.0:0.0:1.0:0.0	.	578;665;673;665	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	Q	578;673;665;578;665;586;286;180	ENSP00000419073:E578Q;ENSP00000371439:E673Q;ENSP00000237364:E665Q;ENSP00000419383:E578Q;ENSP00000404812:E665Q;ENSP00000417569:E586Q;ENSP00000420113:E286Q;ENSP00000419536:E180Q	ENSP00000237364:E665Q	E	+	1	0	STIM2	26628673	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.900000	0.87376	2.483000	0.83821	0.460000	0.39030	GAG	STIM2	-	NULL		0.527	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	G	NM_020860		27019575	1	no_errors	ENST00000382009	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27019575	G	C	27019575	3	2	13	1	0	0	0	0	1	0	0	0	15314	943	33	1	1802	1	STIM2	4	27019575	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	11443748	27019575	164134701	226	1670										
WDR19	57728	genome.wustl.edu	37	chr4	39271645	39271645	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcagtatgtatgcagaactGaaatcccagaagatcaaaat	7	7	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:39271645G>C	ENST00000399820.3	+	31	3562	c.3408G>C	c.(3406-3408)ctG>ctC	p.L1136L	WDR19_ENST00000288634.7_Silent_p.L976L	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1136					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ATGCAGAACTGAAATCCCAGA	0.453																																																	0													145	134	137					4																	39271645		1926	4142	6068	SO:0001819	synonymous_variant	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3408G>C	4.37:g.39271645G>C			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L1136	ENST00000399820.3	37	c.3408	CCDS47042.1	4																																																																																			WDR19	-	NULL		0.453	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	G			39271645	1	no_errors	ENST00000399820	ensembl	human	known	70_37	silent	SNP	0.917	C	C	39271645	G	C	39271645	2	2	13	1	0	0	0	0	0	0	0	1	17310	1277	45	1		1	WDR19	4	39271645	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12252070	39271645	151882631	227	1671										
ATP8A1	10396	genome.wustl.edu	37	chr4	42457436	42457436	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaggcattgctgtaaacaTctaaagcgcacaaactggtc	10	9	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:42457436T>A	ENST00000381668.5	-	29	2926	c.2695A>T	c.(2695-2697)Atg>Ttg	p.M899L	ATP8A1_ENST00000264449.10_Splice_Site_p.M884L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	899					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTGTAAACATCTAAAGCGCA	0.368																																																	0													147	140	142					4																	42457436		2203	4299	6502	SO:0001630	splice_region_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2695-1A>T	4.37:g.42457436T>A			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.M899L	ENST00000381668.5	37	c.2695	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665380	0.29604	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.69806	-0.43;-0.43	5.22	5.22	0.72569	.	0.057415	0.64402	D	0.000001	T	0.31827	0.0809	N	0.00422	-1.515	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.39482	-0.9612	10	0.10636	T	0.68	.	15.3999	0.74830	0.0:0.0:0.0:1.0	.	884;899;891	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	L	899;884	ENSP00000371084:M899L;ENSP00000264449:M884L	ENSP00000264449:M884L	M	-	1	0	ATP8A1	42152193	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.091000	0.57700	2.085000	0.62840	0.528000	0.53228	ATG	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transl		0.368	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	T	NM_006095	Missense_Mutation	42457436	-1	no_errors	ENST00000381668	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42457436	T	A	42457436	5	1	13	1	0	0	0	0	0	0	1	0	1193	1449	50	5	835	5	ATP8A1	4	42457436	Splice_Site	SNP	T	TCGA-C5-A1BQ-01C-11D-A20U-09	3185791	42457436	148696840	228	1672										
OCIAD1	54940	genome.wustl.edu	37	chr4	48859304	48859304	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aattaaggaataagaacagaGagtcatatgaagtatcttta	8	3	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:48859304G>C	ENST00000381473.3	+	8	1040	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	OCIAD1_ENST00000508293.1_Missense_Mutation_p.E208Q|OCIAD1_ENST00000509122.1_Missense_Mutation_p.E181Q|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000513391.2_Missense_Mutation_p.E208Q|OCIAD1_ENST00000264312.7_Missense_Mutation_p.E208Q|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000444354.2_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	208						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TAAGAACAGAGAGTCATATGA	0.343																																																	0													62	66	65					4																	48859304		2203	4297	6500	SO:0001583	missense	54940			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.622G>C	4.37:g.48859304G>C	ENSP00000370882:p.Glu208Gln		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	pfam_OCIA	p.E208Q	ENST00000381473.3	37	c.622	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017855	0.54576	.	.	ENSG00000109180	ENST00000509122;ENST00000264312;ENST00000381473;ENST00000503016;ENST00000508293;ENST00000513391	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.96	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.56769	1.78	0.80722	D	1	B;P	0.35507	0.379;0.506	B;B	0.26864	0.07;0.074	T	0.41538	-0.9503	9	.	.	.	-8.24	14.4251	0.67210	0.0:0.1475:0.8525:0.0	.	181;208	D6RBN5;Q9NX40	.;OCAD1_HUMAN	Q	181;208;208;154;208;208	ENSP00000264312:E208Q;ENSP00000370882:E208Q;ENSP00000423002:E208Q;ENSP00000423909:E208Q	.	E	+	1	0	OCIAD1	48554061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.081000	0.64444	1.511000	0.48818	0.655000	0.94253	GAG	OCIAD1	-	NULL		0.343	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	G	NM_017830		48859304	1	no_errors	ENST00000264312	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48859304	G	C	48859304	3	2	13	1	0	0	0	0	1	0	0	0	10841	943	33	1	684	1	OCIAD1	4	48859304	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6401868	48859304	142294972	229	1673										
UGT2B15	7366	genome.wustl.edu	37	chr4	69535736	69535736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatcatttgatcacttaattCtgacataacaacaggtacat	4	8	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:69535736C>G	ENST00000338206.5	-	1	610	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	201					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TCACTTAATTCTGACATAACA	0.353																																																	0													128	131	130					4																	69535736		2203	4294	6497	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.601G>C	4.37:g.69535736C>G	ENSP00000341045:p.Glu201Gln		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E201Q	ENST00000338206.5	37	c.601	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	5.181	0.218912	0.09810	.	.	ENSG00000196620	ENST00000338206	T	0.62364	0.03	2.79	2.79	0.32731	.	0.165190	0.38436	U	0.001691	T	0.57359	0.2048	L	0.50847	1.595	0.21933	N	0.999461	B	0.32245	0.361	B	0.39771	0.309	T	0.49163	-0.8968	10	0.25106	T	0.35	.	11.3195	0.49412	0.0:1.0:0.0:0.0	.	201	P54855	UDB15_HUMAN	Q	201	ENSP00000341045:E201Q	ENSP00000341045:E201Q	E	-	1	0	UGT2B15	69218331	0.000000	0.05858	0.813000	0.32504	0.583000	0.36354	0.345000	0.19979	1.536000	0.49237	0.442000	0.29010	GAA	UGT2B15	-	pfam_UDP_glucos_trans		0.353	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69535736	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69535736	C	G	69535736	3	3	13	1	0	0	0	0	1	0	0	0	16989	922	32	1	2632	1	UGT2B15	4	69535736	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	20676432	69535736	121618540	230	1674										
DCK	1633	genome.wustl.edu	37	chr4	71888099	71888099	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aataggaacttacaatgtctCagaaaaatggtgggaatgtt	10	4	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:71888099C>T	ENST00000286648.5	+	3	620	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504952.1_Nonsense_Mutation_p.Q75*|DCK_ENST00000504730.1_Nonsense_Mutation_p.Q75*	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	75					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TACAATGTCTCAGAAAAATGG	0.323																																																	0													89	88	88					4																	71888099		2203	4300	6503	SO:0001587	stop_gained	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.223C>T	4.37:g.71888099C>T	ENSP00000286648:p.Gln75*		B2R8V6|Q5TZY7|Q6FI11	Nonsense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.Q75*	ENST00000286648.5	37	c.223	CCDS3548.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.668641	0.97747	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	.	.	.	5.96	5.11	0.69529	.	0.050844	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.2448	0.87025	0.0:0.8741:0.1258:0.0	.	.	.	.	X	75	.	ENSP00000286648:Q75X	Q	+	1	0	DCK	72106963	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.813000	0.62620	1.516000	0.48900	0.655000	0.94253	CAG	DCK	-	NULL		0.323	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	C			71888099	1	no_errors	ENST00000286648	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	71888099	C	T	71888099	4	4	13	1	0	0	0	0	0	1	0	0	4295	827	29	1	233	1	DCK	4	71888099	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2352363	71888099	119266177	231	1675										
PPBP	5473	genome.wustl.edu	37	chr4	74853301	74853301	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actttggatgtttttgggatGaattccagaggttgtcttta	11	4	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:74853301G>A	ENST00000296028.3	-	2	310	c.217C>T	c.(217-219)Cat>Tat	p.H73Y		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	73					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTTTTGGGATGAATTCCAGAG	0.428																																																	0													123	115	118					4																	74853301		2203	4300	6503	SO:0001583	missense	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.217C>T	4.37:g.74853301G>A	ENSP00000296028:p.His73Tyr		B2R5F3|Q6IBJ8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.H73Y	ENST00000296028.3	37	c.217	CCDS3563.1	4	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059191	0.55325	.	.	ENSG00000163736	ENST00000296028	T	0.05081	3.5	2.8	2.8	0.32819	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.274556	0.29286	N	0.012599	T	0.21881	0.0527	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	D	0.67231	0.95	T	0.01330	-1.1383	10	0.62326	D	0.03	-0.0547	9.1346	0.36866	0.0:0.0:1.0:0.0	.	73	P02775	CXCL7_HUMAN	Y	73	ENSP00000296028:H73Y	ENSP00000296028:H73Y	H	-	1	0	PPBP	75072165	0.016000	0.18221	0.004000	0.12327	0.604000	0.37047	1.146000	0.31589	1.560000	0.49568	0.305000	0.20034	CAT	PPBP	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8		0.428	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPBP	HGNC	protein_coding	OTTHUMT00000252281.2	G	NM_002704		74853301	-1	no_errors	ENST00000296028	ensembl	human	known	70_37	missense	SNP	0.007	A	A	74853301	G	A	74853301	3	1	13	1	0	0	0	0	1	0	0	0	12327	1290	45	1	177	1	PPBP	4	74853301	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2965202	74853301	116300975	232	1676										
SEPT11	55752	genome.wustl.edu	37	chr4	77917577	77917577	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctttctcccctgaaattgcaGaatgaagagcttcgaaactt	7	10	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:77917577G>C	ENST00000264893.6	+	2	228		c.e2-1		SEPT11_ENST00000541121.1_Splice_Site|SEPT11_ENST00000505788.1_Splice_Site|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Splice_Site|SEPT11_ENST00000510515.1_Splice_Site	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11						cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGAAATTGCAGAATGAAGAGC	0.428																																																	1	Unknown(1)	lung(1)											143	123	130					4																	77917577		2203	4300	6503	SO:0001630	splice_region_variant	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.28-1G>C	4.37:g.77917577G>C			B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Splice_Site	SNP	-	e2-1	ENST00000264893.6	37	c.58-1	CCDS34018.1	4	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480309	0.44044	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000504637;ENST00000512778;ENST00000541121	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2266	0.73357	0.0:0.1401:0.8599:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT11	78136601	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.513000	0.81739	2.668000	0.90789	0.585000	0.79938	.	SEPT11	-	-		0.428	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	HGNC	protein_coding	OTTHUMT00000362676.1	G	NM_018243	Intron	77917577	1	no_errors	ENST00000541121	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	77917577	G	C	77917577	5	2	13	1	0	0	0	0	0	0	1	0	14091	956	33	1	33	1	SEPT11	4	77917577	Splice_Site	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3064276	77917577	113236699	233	1677										
SEC31A	22872	genome.wustl.edu	37	chr4	83745823	83745823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttttgttggcaaagactgcAcatgctggaagaaacacacc	9	9	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:83745823A>G	ENST00000395310.2	-	25	3478	c.3296T>C	c.(3295-3297)gTg>gCg	p.V1099A	SEC31A_ENST00000509142.1_Missense_Mutation_p.V985A|SEC31A_ENST00000311785.7_Missense_Mutation_p.V985A|SEC31A_ENST00000326950.5_Missense_Mutation_p.V1060A|SEC31A_ENST00000505472.1_Missense_Mutation_p.V1130A|SEC31A_ENST00000448323.1_Missense_Mutation_p.V1099A|SEC31A_ENST00000355196.2_Missense_Mutation_p.V1099A|SEC31A_ENST00000432794.1_Missense_Mutation_p.V1112A|SEC31A_ENST00000443462.2_Missense_Mutation_p.V1079A|SEC31A_ENST00000500777.2_Missense_Mutation_p.V946A|SEC31A_ENST00000348405.4_Missense_Mutation_p.V1060A|SEC31A_ENST00000505984.1_Missense_Mutation_p.V1045A|SEC31A_ENST00000513858.1_Missense_Mutation_p.V946A|SEC31A_ENST00000508502.1_Missense_Mutation_p.V1084A|SEC31A_ENST00000264405.5_Missense_Mutation_p.V848A	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1099	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CAAAGACTGCACATGCTGGAA	0.383																																																	0													129	128	128					4																	83745823		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3296T>C	4.37:g.83745823A>G	ENSP00000378721:p.Val1099Ala		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1112A	ENST00000395310.2	37	c.3335	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.775184|4.775184	0.90108|0.90108	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.42;1.17;2.49;2.38;1.23;2.46;2.49;1.42;1.23;1.29;1.17;2.37;2.49;3.3;2.34	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.072661	.|0.56097	.|D	.|0.000024	T|T	0.39226|0.39226	0.1070|0.1070	L|L	0.27053|0.27053	0.805|0.805	0.29406|0.29406	N|N	0.861598|0.861598	.|P;P;P;P;P;P;P;P;P	.|0.46952	.|0.72;0.745;0.739;0.887;0.739;0.816;0.72;0.874;0.708	.|B;B;B;P;B;P;B;P;P	.|0.53912	.|0.278;0.251;0.291;0.469;0.291;0.469;0.278;0.737;0.469	T|T	0.23511|0.23511	-1.0186|-1.0186	5|10	.|0.19590	.|T	.|0.45	-14.5458|-14.5458	15.9009|15.9009	0.79377|0.79377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1079;1045;946;1060;985;1084;1099;848;1112	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	R|A	262|1060;946;1099;1079;985;1112;1099;1060;985;1130;946;1084;1099;848;1045	.|ENSP00000337602:V1060A;ENSP00000426886:V946A;ENSP00000378721:V1099A;ENSP00000408027:V1079A;ENSP00000426569:V985A;ENSP00000407944:V1112A;ENSP00000400926:V1099A;ENSP00000325087:V1060A;ENSP00000309070:V985A;ENSP00000421633:V1130A;ENSP00000421464:V946A;ENSP00000424635:V1084A;ENSP00000347329:V1099A;ENSP00000264405:V848A;ENSP00000424451:V1045A	.|ENSP00000264405:V848A	C|V	-|-	1|2	0|0	SEC31A|SEC31A	83964847|83964847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.095000|9.095000	0.94175|0.94175	2.173000|2.173000	0.68751|0.68751	0.533000|0.533000	0.62120|0.62120	TGC|GTG	SEC31A	-	NULL		0.383	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	A	NM_016211		83745823	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83745823	A	G	83745823	3	3	13	1	0	0	0	0	1	0	0	0	14028	159	6	5	378	5	SEC31A	4	83745823	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	5828246	83745823	107408453	234	1678										
WDFY3	23001	genome.wustl.edu	37	chr4	85731124	85731124	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggtgacactgattctattGagattacatcttcctctaaa	7	8	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:85731124G>C	ENST00000295888.4	-	14	2668	c.2261C>G	c.(2260-2262)tCa>tGa	p.S754*	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Nonsense_Mutation_p.S754*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	754					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGATTCTATTGAGATTACATC	0.398																																																	0													147	140	142					4																	85731124		2203	4300	6503	SO:0001587	stop_gained	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2261C>G	4.37:g.85731124G>C	ENSP00000295888:p.Ser754*		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S754*	ENST00000295888.4	37	c.2261	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.939342	0.97948	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	6.07	2.24	0.28232	.	0.905217	0.09719	N	0.764731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	3.8333	0.08883	0.1334:0.2587:0.4881:0.1198	.	.	.	.	X	754	.	ENSP00000295888:S754X	S	-	2	0	WDFY3	85950148	0.196000	0.23350	0.000000	0.03702	0.010000	0.07245	2.973000	0.49264	0.434000	0.26340	0.655000	0.94253	TCA	WDFY3	-	superfamily_ARM-type_fold		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85731124	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	nonsense	SNP	0.002	C	C	85731124	G	C	85731124	4	2	13	1	0	0	0	0	0	1	0	0	17301	1294	45	1	8582	1	WDFY3	4	85731124	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1985301	85731124	105423152	235	1679										
C4orf36	132989	genome.wustl.edu	37	chr4	87809429	87809429	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caatatcccaaggttcctgtCtggggcaaaaattcattaat	7	9	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:87809429C>G	ENST00000473559.1	-	6	729		c.e6-1		C4orf36_ENST00000503001.1_Intron|C4orf36_ENST00000295898.3_Splice_Site			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36											breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGGTTCCTGTCTGGGGCAAAA	0.378																																																	0													67	65	66					4																	87809429		2203	4300	6503	SO:0001630	splice_region_variant	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.66-1G>C	4.37:g.87809429C>G				Splice_Site	SNP	-	e2-1	ENST00000473559.1	37	c.66-1	CCDS3615.1	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434482	0.43224	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	4.96	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5594	0.45135	0.1927:0.8073:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf36	88028453	1.000000	0.71417	0.999000	0.59377	0.765000	0.43378	3.343000	0.52167	1.302000	0.44855	0.591000	0.81541	.	C4orf36	-	-		0.378	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	C	NM_144645	Intron	87809429	-1	no_errors	ENST00000295898	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	87809429	C	G	87809429	5	3	13	1	0	0	0	0	0	0	1	0	2271	927	32	1	296	1	C4orf36	4	87809429	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2078305	87809429	103344847	236	1680										
MEPE	56955	genome.wustl.edu	37	chr4	88759818	88759818	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gactgagaaaactaagcaaaGctgtgtggaagagcagaggg	15	5	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:88759818G>C	ENST00000424957.3	+	3	162	c.89G>C	c.(88-90)aGc>aCc	p.S30T	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S30T|MEPE_ENST00000511670.1_Missense_Mutation_p.S30T|MEPE_ENST00000361056.3_Missense_Mutation_p.S30T|MEPE_ENST00000560249.1_5'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	30					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTAAGCAAAGCTGTGTGGAA	0.338																																																	0													132	134	133					4																	88759818		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.89G>C	4.37:g.88759818G>C	ENSP00000416984:p.Ser30Thr		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.S30T	ENST00000424957.3	37	c.89	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406283	0.25378	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000511670;ENST00000361056	T;T;T	0.21361	4.33;2.01;4.33	4.79	1.81	0.25067	.	0.701948	0.11823	N	0.525976	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	B	0.28233	0.204	B	0.23419	0.046	T	0.13388	-1.0511	10	0.62326	D	0.03	-5.6712	5.2195	0.15362	0.4729:0.0:0.5271:0.0	.	30	Q9NQ76	MEPE_HUMAN	T	30	ENSP00000416984:S30T;ENSP00000378534:S30T;ENSP00000354341:S30T	ENSP00000354341:S30T	S	+	2	0	MEPE	88978842	0.953000	0.32496	0.953000	0.39169	0.706000	0.40770	0.879000	0.28146	0.363000	0.24346	0.655000	0.94253	AGC	MEPE	-	NULL		0.338	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	G			88759818	1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.968	C	C	88759818	G	C	88759818	3	2	13	1	0	0	0	0	1	0	0	0	9501	971	34	4	95	4	MEPE	4	88759818	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	950389	88759818	102394458	237	1681										
ADH5	128	genome.wustl.edu	37	chr4	99993741	99993741	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacctctttccagaatgcatCagttcaaaggctttgttgat	7	9	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:99993741C>T	ENST00000296412.8	-	8	1133	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L		NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CAGAATGCATCAGTTCAAAGG	0.338																																																	0													70	68	68					4																	99993741		1843	4073	5916	SO:0001819	synonymous_variant	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"Alcohol dehydrogenases"	253	protein-coding gene	gene with protein product		103710	"formaldehyde dehydrogenase"	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.1083G>A	4.37:g.99993741C>T				Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3	p.L361	ENST00000296412.8	37	c.1083	CCDS47111.1	4																																																																																			ADH5	-	superfamily_GroES-like,tigrfam_ADH_3		0.338	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	C	NM_000671		99993741	-1	no_errors	ENST00000296412	ensembl	human	known	70_37	silent	SNP	0.955	T	T	99993741	C	T	99993741	2	4	13	1	0	0	0	0	0	0	0	1	311	813	29	1		1	ADH5	4	99993741	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	11233923	99993741	91160535	238	1682										
BANK1	55024	genome.wustl.edu	37	chr4	102994888	102994888	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaatttggtttctgttgcaaGaaagatcattaaagaaggta	10	3	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:102994888G>T	ENST00000322953.4	+	16	2620	c.2346G>T	c.(2344-2346)aaG>aaT	p.K782N	BANK1_ENST00000504592.1_Missense_Mutation_p.K767N|BANK1_ENST00000508653.1_Missense_Mutation_p.K649N|BANK1_ENST00000444316.2_Missense_Mutation_p.K752N|BANK1_ENST00000428908.1_Missense_Mutation_p.K649N	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	782					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCTGTTGCAAGAAAGATCATT	0.318																																																	0													71	74	73					4																	102994888		2203	4300	6503	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2346G>T	4.37:g.102994888G>T	ENSP00000320509:p.Lys782Asn		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.K782N	ENST00000322953.4	37	c.2346	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734510	0.30774	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.20738	2.75;2.73;2.05;2.05;2.75	4.59	-2.37	0.06643	.	0.541918	0.17356	N	0.177235	T	0.09905	0.0243	N	0.14661	0.345	0.26920	N	0.966692	B;B;B	0.25609	0.13;0.13;0.13	B;B;B	0.27076	0.076;0.076;0.076	T	0.17258	-1.0375	10	0.72032	D	0.01	.	5.1243	0.14876	0.5983:0.0:0.24:0.1617	.	649;782;767	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	N	767;782;649;649;752	ENSP00000421443:K767N;ENSP00000320509:K782N;ENSP00000412748:K649N;ENSP00000422314:K649N;ENSP00000388817:K752N	ENSP00000320509:K782N	K	+	3	2	BANK1	103213911	0.885000	0.30320	0.871000	0.34182	0.803000	0.45373	0.046000	0.14035	-0.377000	0.07930	0.563000	0.77884	AAG	BANK1	-	NULL		0.318	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	G	NM_017935		102994888	1	no_errors	ENST00000322953	ensembl	human	known	70_37	missense	SNP	0.832	T	T	102994888	G	T	102994888	3	4	13	1	0	0	0	0	1	0	0	0	1310	933	33	3	2408	3	BANK1	4	102994888	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3001147	102994888	88159388	239	1683										
CENPE	1062	genome.wustl.edu	37	chr4	104070090	104070090	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacgcttcttcttagttcatCaatagtttcttggtgttctt	6	8	6	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:104070090C>G	ENST00000265148.3	-	28	3843	c.3754G>C	c.(3754-3756)Gat>Cat	p.D1252H	CENPE_ENST00000380026.3_Missense_Mutation_p.D1227H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1252					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTAGTTCATCAATAGTTTCT	0.323																																																	0													138	140	139					4																	104070090		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3754G>C	4.37:g.104070090C>G	ENSP00000265148:p.Asp1252His		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1252H	ENST00000265148.3	37	c.3754	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753456	0.49362	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72282	-0.64;-0.64	4.06	3.2	0.36748	.	.	.	.	.	T	0.70596	0.3242	L	0.52126	1.63	0.26586	N	0.973287	D;D	0.59767	0.986;0.985	P;P	0.53062	0.717;0.621	T	0.61342	-0.7082	9	0.66056	D	0.02	.	5.949	0.19235	0.0:0.7585:0.0:0.2415	.	1227;1252	Q02224-3;Q02224	.;CENPE_HUMAN	H	1252;1252;1227	ENSP00000265148:D1252H;ENSP00000369365:D1227H	ENSP00000265148:D1252H	D	-	1	0	CENPE	104289539	0.001000	0.12720	0.983000	0.44433	0.942000	0.58702	-0.173000	0.09854	1.003000	0.39130	0.563000	0.77884	GAT	CENPE	-	superfamily_STAT_TF_coiled-coil		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104070090	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.993	G	G	104070090	C	G	104070090	3	3	13	1	0	0	0	0	1	0	0	0	3235	826	29	1	4439	1	CENPE	4	104070090	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1075202	104070090	87084186	240	1684										
TACR3	6870	genome.wustl.edu	37	chr4	104640293	104640293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcctctcctcacctgtccacCgcaatggccgtcatggagta	8	16	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:104640293C>T	ENST00000304883.2	-	1	680	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	180					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCTGTCCACCGCAATGGCCG	0.498																																																	0													47	46	46					4																	104640293		2203	4300	6503	SO:0001819	synonymous_variant	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.540G>A	4.37:g.104640293C>T			Q0P510	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.A180	ENST00000304883.2	37	c.540	CCDS3664.1	4																																																																																			TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	C	NM_001059		104640293	-1	no_errors	ENST00000304883	ensembl	human	known	70_37	silent	SNP	0.442	T	T	104640293	C	T	104640293	2	4	13	1	0	0	0	0	0	0	0	1	15537	639	23	2		2	TACR3	4	104640293	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	570203	104640293	86513983	241	1685										
NEUROG2	63973	genome.wustl.edu	37	chr4	113436006	113436006	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aactccacgtggaggcgggcGaggggctgtctccgctgctg	17	12	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:113436006G>T	ENST00000313341.3	-	2	952	c.626C>A	c.(625-627)tCg>tAg	p.S209*	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	209	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGAGGCGGGCGAGGGGCTGTC	0.721																																																	0													22	26	25					4																	113436006		2197	4292	6489	SO:0001587	stop_gained	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.626C>A	4.37:g.113436006G>T	ENSP00000317333:p.Ser209*		Q8N416	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S209*	ENST00000313341.3	37	c.626	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.435412	0.97564	.	.	ENSG00000178403	ENST00000313341	.	.	.	4.07	4.07	0.47477	.	0.000000	0.41605	D	0.000841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3413	9.1117	0.36732	0.0:0.0:0.782:0.218	.	.	.	.	X	209	.	ENSP00000317333:S209X	S	-	2	0	NEUROG2	113655455	0.958000	0.32768	0.994000	0.49952	0.876000	0.50452	0.820000	0.27323	2.097000	0.63578	0.655000	0.94253	TCG	NEUROG2	-	NULL		0.721	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	HGNC	protein_coding	OTTHUMT00000256414.1	G	NM_024019		113436006	-1	no_errors	ENST00000313341	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	113436006	G	T	113436006	4	4	13	1	0	0	0	0	0	1	0	0	10377	1059	37	3	196	3	NEUROG2	4	113436006	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8795713	113436006	77718270	242	1686										
C4orf21	55345	genome.wustl.edu	37	chr4	113538800	113538800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttctctggcagtttcaacctCaacatggtcagggggtggac	12	10	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:113538800C>G	ENST00000505019.1	-	6	2523	c.2398G>C	c.(2398-2400)Gag>Cag	p.E800Q	C4orf21_ENST00000445203.2_Missense_Mutation_p.E769Q|C4orf21_ENST00000309071.5_Missense_Mutation_p.E800Q	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		800						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		GTTTCAACCTCAACATGGTCA	0.388																																																	0													78	71	74					4																	113538800		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.2398G>C	4.37:g.113538800C>G	ENSP00000424737:p.Glu800Gln		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.E800Q	ENST00000505019.1	37	c.2398		4	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761735	0.31228	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83250	-1.7;1.81;1.39	5.98	4.0	0.46444	.	0.471978	0.20005	N	0.101248	D	0.82300	0.5007	L	0.47716	1.5	0.09310	N	1	D;D	0.53619	0.961;0.96	P;P	0.52758	0.708;0.55	T	0.73946	-0.3822	10	0.66056	D	0.02	-7.5699	7.9738	0.30143	0.0:0.7296:0.0:0.2704	.	800;800	Q86YA3;G5EA02	CD021_HUMAN;.	Q	800;800;769	ENSP00000424737:E800Q;ENSP00000309095:E800Q;ENSP00000390505:E769Q	ENSP00000309095:E800Q	E	-	1	0	C4orf21	113758249	0.001000	0.12720	0.014000	0.15608	0.025000	0.11179	0.069000	0.14552	1.510000	0.48803	0.655000	0.94253	GAG	C4orf21	-	NULL		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113538800	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.004	G	G	113538800	C	G	113538800	3	3	13	1	0	0	0	0	1	0	0	0	2259	835	29	1	4008	1	C4orf21	4	113538800	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	102794	113538800	77615476	243	1687										
ANK2	287	genome.wustl.edu	37	chr4	114254283	114254283	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aactggtggtcctgcgcagtGagaatggggacagctggaaa	16	7	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:114254283G>C	ENST00000357077.4	+	29	3351	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	ANK2_ENST00000394537.3_Missense_Mutation_p.E1100Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E1067Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E276Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E1091Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1100	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTGCGCAGTGAGAATGGGGA	0.478																																																	0													178	165	169					4																	114254283		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3298G>C	4.37:g.114254283G>C	ENSP00000349588:p.Glu1100Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E1100Q	ENST00000357077.4	37	c.3298	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.813797|3.813797	0.70912|0.70912	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.38887|.	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11|.	5.33|5.33	5.33|5.33	0.75918|0.75918	ZU5 (3);|.	0.000000|.	0.51477|.	D|.	0.000081|.	T|.	0.60209|.	0.2251|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P;P|.	0.52577|.	0.943;0.954;0.851;0.931;0.938;0.708;0.908|.	B;P;B;P;D;B;D|.	0.64144|.	0.411;0.713;0.291;0.747;0.91;0.331;0.922|.	T|.	0.53989|.	-0.8360|.	10|.	0.87932|.	D|.	0|.	.|.	19.3667|19.3667	0.94466|0.94466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	276;1067;112;1100;1100;1091;1091|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.;.|.	Q|S	1079;1013;1091;146;1115;1100;1100;1067;1091;276|112	ENSP00000423799:E1079Q;ENSP00000421011:E1013Q;ENSP00000421067:E1091Q;ENSP00000424722:E1115Q;ENSP00000378044:E1100Q;ENSP00000349588:E1100Q;ENSP00000264366:E1067Q;ENSP00000426944:E276Q|.	ENSP00000264366:E1067Q|.	E|X	+|+	1|2	0|2	ANK2|ANK2	114473732|114473732	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	7.890000|7.890000	0.87313|0.87313	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GAG|TGA	ANK2	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114254283	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114254283	G	C	114254283	3	2	13	1	0	0	0	0	1	0	0	0	621	1291	45	1	3477	1	ANK2	4	114254283	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	715483	114254283	76899993	244	1688										
ANK2	287	genome.wustl.edu	37	chr4	114274497	114274497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtggaacctgcacaagagatGaaagcagtgtgcagagctct	13	8	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:114274497G>A	ENST00000357077.4	+	38	4776	c.4723G>A	c.(4723-4725)Gaa>Aaa	p.E1575K	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1542K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1575					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAAGAGATGAAAGCAGTGT	0.443																																																	0													77	82	80					4																	114274497		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4723G>A	4.37:g.114274497G>A	ENSP00000349588:p.Glu1575Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E1575K	ENST00000357077.4	37	c.4723	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	1.176	-0.639493	0.03557	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.66280	0.11;-0.03;-0.2;-0.19	5.35	5.35	0.76521	.	0.101878	0.42682	D	0.000663	T	0.44414	0.1292	N	0.15975	0.35	0.58432	D	0.999997	B;B	0.10296	0.001;0.003	B;B	0.15052	0.004;0.012	T	0.32929	-0.9888	10	0.23891	T	0.37	.	13.3813	0.60768	0.0752:0.0:0.9248:0.0	.	1542;1575	Q01484;Q01484-4	ANK2_HUMAN;.	K	1488;1590;1575;1542	ENSP00000421011:E1488K;ENSP00000424722:E1590K;ENSP00000349588:E1575K;ENSP00000264366:E1542K	ENSP00000264366:E1542K	E	+	1	0	ANK2	114493946	0.022000	0.18835	0.044000	0.18714	0.218000	0.24690	1.402000	0.34600	2.500000	0.84329	0.650000	0.86243	GAA	ANK2	-	NULL		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114274497	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.418	A	A	114274497	G	A	114274497	3	1	13	1	0	0	0	0	1	0	0	0	621	1291	45	1	4938	1	ANK2	4	114274497	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	20214	114274497	76879779	245	1689										
LARP1B	55132	genome.wustl.edu	37	chr4	129120696	129120696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	catccttctcatgaacttttGaaggaaaatggctttaccca	6	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:129120696G>A	ENST00000326639.6	+	16	2317	c.2106G>A	c.(2104-2106)ttG>ttA	p.L702L	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Silent_p.L121L|LARP1B_ENST00000264584.5_Silent_p.L643L|LARP1B_ENST00000441387.1_Silent_p.L702L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	702						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ATGAACTTTTGAAGGAAAATG	0.393																																																	0													95	86	89					4																	129120696		2203	4300	6503	SO:0001819	synonymous_variant	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2106G>A	4.37:g.129120696G>A			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.L702	ENST00000326639.6	37	c.2106	CCDS3738.1	4																																																																																			LARP1B	-	NULL		0.393	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	G	NM_018078		129120696	1	no_errors	ENST00000326639	ensembl	human	known	70_37	silent	SNP	1.000	A	A	129120696	G	A	129120696	2	1	13	1	0	0	0	0	0	0	0	1	8649	1281	45	1		1	LARP1B	4	129120696	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	14846199	129120696	62033580	246	1690										
PHF17	79960	genome.wustl.edu	37	chr4	129776799	129776799	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcacaggcctgttatggaatCctcaaggtaccagagggcag	12	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:129776799C>T	ENST00000226319.6	+	7	991	c.711C>T	c.(709-711)atC>atT	p.I237I	PHF17_ENST00000452328.2_Silent_p.I225I|PHF17_ENST00000511647.1_Silent_p.I237I|PHF17_ENST00000512960.1_Silent_p.I237I|PHF17_ENST00000413543.2_Silent_p.I237I	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTTATGGAATCCTCAAGGTAC	0.478																																																	0													61	59	59					4																	129776799		2203	4300	6503	SO:0001819	synonymous_variant	79960																														ENST00000226319.6:c.711C>T	4.37:g.129776799C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I237	ENST00000226319.6	37	c.711	CCDS34062.1	4																																																																																			PHF17	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.478	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	C			129776799	1	no_errors	ENST00000226319	ensembl	human	known	70_37	silent	SNP	1.000	T	T	129776799	C	T	129776799	2	4	13	1	0	0	0	0	0	0	0	1	11852	845	30	1		1	PHF17	4	129776799	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	656103	129776799	61377477	247	1691										
PCDH10	57575	genome.wustl.edu	37	chr4	134073539	134073539	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaagagaagaagctcaacatCtatacttgtctggccagcga	9	9	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:134073539C>T	ENST00000264360.5	+	1	3070	c.2244C>T	c.(2242-2244)atC>atT	p.I748I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	748					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCTCAACATCTATACTTGTC	0.597																																																	0													72	78	76					4																	134073539		2203	4300	6503	SO:0001819	synonymous_variant	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2244C>T	4.37:g.134073539C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I748	ENST00000264360.5	37	c.2244	CCDS34063.1	4																																																																																			PCDH10	-	NULL		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134073539	1	no_errors	ENST00000264360	ensembl	human	known	70_37	silent	SNP	0.988	T	T	134073539	C	T	134073539	2	4	13	1	0	0	0	0	0	0	0	1	11531	903	32	1		1	PCDH10	4	134073539	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4296740	134073539	57080737	248	1692										
IL15	3600	genome.wustl.edu	37	chr4	142643137	142643137	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgaatgtaataagtgatttGaaaaaaattgaagatcttat	8	1	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:142643137G>C	ENST00000296545.7	+	5	1015	c.171G>C	c.(169-171)ttG>ttC	p.L57F	IL15_ENST00000394159.1_Missense_Mutation_p.L30F|IL15_ENST00000529613.1_Missense_Mutation_p.L57F|IL15_ENST00000514653.1_Missense_Mutation_p.L30F|IL15_ENST00000477265.1_Missense_Mutation_p.L30F|IL15_ENST00000320650.4_Missense_Mutation_p.L57F			P40933	IL15_HUMAN	interleukin 15	57					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TAAGTGATTTGAAAAAAATTG	0.373																																					Pancreas(10;184 986 25902)												0													83	88	86					4																	142643137		2203	4300	6503	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"Interleukins and interleukin receptors"	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.171G>C	4.37:g.142643137G>C	ENSP00000296545:p.Leu57Phe		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15	p.L57F	ENST00000296545.7	37	c.171	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104778	0.37145	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.06	4.2	0.49525	.	0.000000	0.49916	D	0.000124	T	0.67683	0.2919	M	0.82923	2.615	0.29624	N	0.845935	D	0.89917	1.0	D	0.97110	1.0	T	0.66006	-0.6030	9	0.87932	D	0	.	9.9628	0.41706	0.0998:0.0:0.9002:0.0	.	57	P40933	IL15_HUMAN	F	57;57;30;57;30;30	.	ENSP00000296545:L57F	L	+	3	2	IL15	142862587	0.804000	0.28969	0.147000	0.22382	0.261000	0.26267	0.904000	0.28491	2.501000	0.84356	0.655000	0.94253	TTG	IL15	-	pfam_Interleukin_15-like		0.373	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	G	NM_172175		142643137	1	no_errors	ENST00000296545	ensembl	human	known	70_37	missense	SNP	0.612	C	C	142643137	G	C	142643137	3	2	13	1	0	0	0	0	1	0	0	0	7651	1281	45	1	181	1	IL15	4	142643137	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8569598	142643137	48511139	249	1693										
USP38	84640	genome.wustl.edu	37	chr4	144106718	144106718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggctagacgaggcgcagtgcGaggccatgtttgacctgacg	16	10	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:144106718G>C	ENST00000307017.4	+	1	621	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	USP38_ENST00000510377.1_Missense_Mutation_p.E39Q|RP11-284M14.1_ENST00000507486.1_RNA|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	39					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCGCAGTGCGAGGCCATGTT	0.652																																																	0													76	65	69					4																	144106718		2203	4300	6503	SO:0001583	missense	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.115G>C	4.37:g.144106718G>C	ENSP00000303434:p.Glu39Gln		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E39Q	ENST00000307017.4	37	c.115	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881012	0.33255	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.67698	-0.28;-0.28	5.3	3.55	0.40652	.	0.405610	0.25247	N	0.032057	T	0.43055	0.1230	N	0.08118	0	0.29446	N	0.858787	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.30563	-0.9974	10	0.25751	T	0.34	-8.2409	10.1217	0.42625	0.0771:0.5015:0.4214:0.0	.	39;39	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	Q	39	ENSP00000427647:E39Q;ENSP00000303434:E39Q	ENSP00000303434:E39Q	E	+	1	0	USP38	144326168	0.941000	0.31946	1.000000	0.80357	0.987000	0.75469	0.067000	0.14510	0.779000	0.33543	0.561000	0.74099	GAG	USP38	-	NULL		0.652	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1	G	NM_032557		144106718	1	no_errors	ENST00000307017	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144106718	G	C	144106718	3	2	13	1	0	0	0	0	1	0	0	0	17100	1059	37	1	117	1	USP38	4	144106718	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1463581	144106718	47047558	250	1694										
KIAA0922	23240	genome.wustl.edu	37	chr4	154544168	154544168	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cggggcagctgggggagctgGagcagcaccagcagctccga	18	12	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:154544168G>C	ENST00000409663.3	+	29	4027	c.3975G>C	c.(3973-3975)tgG>tgC	p.W1325C	KIAA0922_ENST00000409959.3_Missense_Mutation_p.W1326C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.W1242C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1325	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGGGGAGCTGGAGCAGCACCA	0.647																																																	0													52	56	55					4																	154544168		2203	4300	6503	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3975G>C	4.37:g.154544168G>C	ENSP00000386574:p.Trp1325Cys		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.W1326C	ENST00000409663.3	37	c.3978	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126974	0.56721	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.31510	1.8;1.49;1.8;1.51	5.69	5.69	0.88448	.	0.161196	0.48286	D	0.000193	T	0.54271	0.1848	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.43653	-0.9378	10	0.38643	T	0.18	-8.6796	19.821	0.96592	0.0:0.0:1.0:0.0	.	1242;1326;1325	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	C	1325;1242;1326;1103	ENSP00000386574:W1325C;ENSP00000409663:W1242C;ENSP00000386787:W1326C;ENSP00000240487:W1103C	ENSP00000240487:W1103C	W	+	3	0	KIAA0922	154763618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.780000	0.68956	2.683000	0.91414	0.655000	0.94253	TGG	KIAA0922	-	NULL		0.647	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	G	NM_015196		154544168	1	no_errors	ENST00000409959	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154544168	G	C	154544168	3	2	13	1	0	0	0	0	1	0	0	0	8221	1183	41	1	4092	1	KIAA0922	4	154544168	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10437450	154544168	36610108	251	1695										
FGA	2243	genome.wustl.edu	37	chr4	155505632	155505632	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacttggagggcatagccttCagcctcagagcctacccgga	12	13	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:155505632C>T	ENST00000302053.3	-	6	2323	c.2245G>A	c.(2245-2247)Gaa>Aaa	p.E749K		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	749	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.E749Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCATAGCCTTCAGCCTCAGAG	0.517																																					NSCLC(143;340 1922 20892 22370 48145)												1	Substitution - Missense(1)	cervix(1)											134	130	132					4																	155505632		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2245G>A	4.37:g.155505632C>T	ENSP00000306361:p.Glu749Lys		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E749K	ENST00000302053.3	37	c.2245	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530427	0.27387	.	.	ENSG00000171560	ENST00000302053	D	0.97328	-4.34	5.7	4.87	0.63330	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.045523	0.85682	D	0.000000	D	0.95671	0.8592	L	0.59967	1.855	0.80722	D	1	B	0.25743	0.133	B	0.27500	0.08	D	0.94054	0.7320	10	0.66056	D	0.02	.	14.9049	0.70711	0.0:0.9312:0.0:0.0688	.	749	P02671	FIBA_HUMAN	K	749	ENSP00000306361:E749K	ENSP00000306361:E749K	E	-	1	0	FGA	155725082	0.991000	0.36638	0.040000	0.18447	0.042000	0.13812	2.946000	0.49050	1.418000	0.47098	-0.143000	0.13931	GAA	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505632	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	0.993	T	T	155505632	C	T	155505632	3	4	13	1	0	0	0	0	1	0	0	0	5848	835	29	1	359	1	FGA	4	155505632	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	961464	155505632	35648644	252	1696										
GLRB	2743	genome.wustl.edu	37	chr4	158074128	158074128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	taaaaagaatactgtgaatgGaacagggactcctgttcata	9	6	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:158074128G>A	ENST00000264428.4	+	9	1433	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.G388E	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	388					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACTGTGAATGGAACAGGGACT	0.418																																																	0													87	88	88					4																	158074128		2203	4300	6503	SO:0001583	missense	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1163G>A	4.37:g.158074128G>A	ENSP00000264428:p.Gly388Glu		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G388E	ENST00000264428.4	37	c.1163	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589538	0.66105	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.84944	-1.92;-1.92	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.486666	0.23468	N	0.047848	D	0.87458	0.6182	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.53062	0.717	D	0.86555	0.1837	10	0.37606	T	0.19	.	18.5985	0.91239	0.0:0.0:1.0:0.0	.	388	P48167	GLRB_HUMAN	E	388	ENSP00000264428:G388E;ENSP00000427186:G388E	ENSP00000264428:G388E	G	+	2	0	GLRB	158293578	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	7.998000	0.88491	2.467000	0.83353	0.561000	0.74099	GGA	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.418	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	G	NM_000824		158074128	1	no_errors	ENST00000264428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	158074128	G	A	158074128	3	1	13	1	0	0	0	0	1	0	0	0	6477	1174	41	1	1193	1	GLRB	4	158074128	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2568496	158074128	33080148	253	1697										
TLL1	7092	genome.wustl.edu	37	chr4	166914025	166914025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acttatagacaggataagaaGaattggctttggtatatcaa	9	4	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:166914025G>A	ENST00000061240.2	+	3	997	c.350G>A	c.(349-351)aGa>aAa	p.R117K	TLL1_ENST00000507499.1_Missense_Mutation_p.R117K|TLL1_ENST00000513213.1_Missense_Mutation_p.R117K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	117					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGATAAGAAGAATTGGCTTT	0.368																																																	0													103	102	102					4																	166914025		2203	4299	6502	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.350G>A	4.37:g.166914025G>A	ENSP00000061240:p.Arg117Lys		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R117K	ENST00000061240.2	37	c.350	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972970	0.53614	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.79454	0.54;0.48;0.4;-1.27	5.52	5.52	0.82312	.	0.057900	0.64402	U	0.000005	T	0.62575	0.2439	L	0.28274	0.84	0.47659	D	0.999483	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.57004	-0.7885	10	0.05833	T	0.94	.	13.698	0.62591	0.0738:0.0:0.9262:0.0	.	117;117	E9PD25;O43897	.;TLL1_HUMAN	K	117;117;117;17	ENSP00000061240:R117K;ENSP00000426082:R117K;ENSP00000422937:R117K;ENSP00000423748:R17K	ENSP00000061240:R117K	R	+	2	0	TLL1	167133475	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.679000	0.74513	2.599000	0.87857	0.563000	0.77884	AGA	TLL1	-	pirsf_BMP_1/tolloid-like		0.368	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	G			166914025	1	no_errors	ENST00000061240	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166914025	G	A	166914025	3	1	13	1	0	0	0	0	1	0	0	0	15975	942	33	1	360	1	TLL1	4	166914025	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8839897	166914025	24240251	254	1698										
WDR17	116966	genome.wustl.edu	37	chr4	177046476	177046476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacagtgcttagcctgggttCccagtgctcctgggatgttt	12	10	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:177046476C>T	ENST00000280190.4	+	6	988	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	WDR17_ENST00000508596.1_Missense_Mutation_p.P254S|WDR17_ENST00000393643.2_Missense_Mutation_p.P254S|WDR17_ENST00000507824.2_Missense_Mutation_p.P261S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	278										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCCTGGGTTCCCAGTGCTCC	0.403																																																	0													120	125	124					4																	177046476		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.832C>T	4.37:g.177046476C>T	ENSP00000280190:p.Pro278Ser		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P278S	ENST00000280190.4	37	c.832	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316493	0.60524	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60672	0.21;0.23;0.17	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.059241	0.64402	D	0.000002	T	0.59404	0.2191	M	0.73962	2.25	0.58432	D	0.999999	B;B	0.22746	0.074;0.074	B;B	0.23018	0.043;0.043	T	0.60999	-0.7151	10	0.66056	D	0.02	-6.1363	14.2485	0.66004	0.0:0.927:0.0:0.073	.	254;278	E7EQX0;Q8IZU2	.;WDR17_HUMAN	S	254;254;278;261	ENSP00000422763:P254S;ENSP00000377258:P254S;ENSP00000280190:P278S	ENSP00000280190:P278S	P	+	1	0	WDR17	177283470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.411000	0.52672	2.722000	0.93159	0.650000	0.86243	CCC	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046476	1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	177046476	C	T	177046476	3	4	13	1	0	0	0	0	1	0	0	0	17308	855	30	1	850	1	WDR17	4	177046476	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	10132451	177046476	14107800	255	1699										
VEGFC	7424	genome.wustl.edu	37	chr4	177713352	177713352	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcgtcgggctccgcgtccgaGaggtcgagtccggactcgaa	16	13	0	1	rs368695233		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:177713352G>A	ENST00000280193.2	-	1	529	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	38					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGCGTCCGAGAGGTCGAGTC	0.701													G|||	1	0.000199681	0	0	5008	,	,		9374	0		0.001	False		,,,				2504	0																0								G		0,3694		0,0,1847	15	18	17		114	0.7	0.9	4		17	6,8136		0,6,4065	no	coding-synonymous	VEGFC	NM_005429.2		0,6,5912	AA,AG,GG		0.0737,0.0,0.0507		38/421	177713352	6,11830	1847	4071	5918	SO:0001819	synonymous_variant	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.114C>T	4.37:g.177713352G>A			B2R9Q8	Silent	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.L38	ENST00000280193.2	37	c.114	CCDS43285.1	4																																																																																			VEGFC	-	NULL		0.701	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	G	NM_005429		177713352	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	silent	SNP	0.857	A	A	177713352	G	A	177713352	2	1	13	1	0	0	0	0	0	0	0	1	17183	929	33	1		1	VEGFC	4	177713352	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	666876	177713352	13440924	256	1700										
ODZ3	55714	genome.wustl.edu	37	chr4	183603092	183603092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtgtccagaccagtgctccGgccacggaacgtatcttcaa	10	13	2	1	rs371272255		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:183603092G>A	ENST00000511685.1	+	11	2083	c.1960G>A	c.(1960-1962)Ggc>Agc	p.G654S	TENM3_ENST00000406950.2_Missense_Mutation_p.G654S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	654	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCAGTGCTCCGGCCACGGAAC	0.502																																																	0								G	SER/GLY	0,4020		0,0,2010	89	87	88		1960	5.5	1	4		88	1,8325		0,1,4162	no	missense	ODZ3	NM_001080477.1	56	0,1,6172	AA,AG,GG		0.012,0.0,0.0081	benign	654/2700	183603092	1,12345	2010	4163	6173	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1960G>A	4.37:g.183603092G>A	ENSP00000424226:p.Gly654Ser		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G654S	ENST00000511685.1	37	c.1960	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027001	0.75390	0.0	1.2E-4	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.32753	1.44;1.44	5.5	5.5	0.81552	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.42944	0.1225	M	0.66939	2.045	0.58432	D	0.999999	P	0.52463	0.953	P	0.46825	0.528	T	0.32428	-0.9907	9	0.49607	T	0.09	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	654	Q9P273	TEN3_HUMAN	S	654	ENSP00000424226:G654S;ENSP00000385276:G654S	ENSP00000385276:G654S	G	+	1	0	ODZ3	183840086	1.000000	0.71417	0.997000	0.53966	0.643000	0.38383	7.583000	0.82559	2.861000	0.98227	0.655000	0.94253	GGC	TENM3	-	smart_EG-like_dom,pfscan_EG-like_dom		0.502	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183603092	1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183603092	G	A	183603092	3	1	13	1	0	0	0	0	1	0	0	0	10860	1116	39	2	1998	2	ODZ3	4	183603092	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5889740	183603092	7551184	257	1701										
STOX2	56977	genome.wustl.edu	37	chr4	184931020	184931020	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggaagaagaaaaggcccaGaggagtaaagccgggtcctc	14	9	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:184931020G>A	ENST00000308497.4	+	3	2464	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	STOX2_ENST00000438269.1_Silent_p.Q343Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	343					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAAAGGCCCAGAGGAGTAAAG	0.512																																																	0													21	21	21					4																	184931020		1894	4108	6002	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1029G>A	4.37:g.184931020G>A			A6H8U4|Q9NPS8	Silent	SNP	pfam_Storkhead-box_winged-helix	p.Q343	ENST00000308497.4	37	c.1029	CCDS47167.1	4																																																																																			STOX2	-	NULL		0.512	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	G	NM_020225		184931020	1	no_errors	ENST00000308497	ensembl	human	known	70_37	silent	SNP	0.010	A	A	184931020	G	A	184931020	2	1	13	1	0	0	0	0	0	0	0	1	15350	933	33	1		1	STOX2	4	184931020	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1327928	184931020	6223256	258	1702										
TLR3	7098	genome.wustl.edu	37	chr4	187000002	187000002	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttttcccttcagaatttaatCacattagatctgtctcataa	3	9	4	2	rs149945790		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:187000002C>T	ENST00000296795.3	+	3	554	c.450C>T	c.(448-450)atC>atT	p.I150I	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	150					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGAATTTAATCACATTAGATC	0.313																																																	0								C		0,4400		0,0,2200	33	36	35		450	2.7	1	4	dbSNP_134	35	3,8591	2.2+/-6.3	0,3,4294	no	coding-synonymous	TLR3	NM_003265.2		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		150/905	187000002	3,12991	2200	4297	6497	SO:0001819	synonymous_variant	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.450C>T	4.37:g.187000002C>T			B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I150	ENST00000296795.3	37	c.450	CCDS3846.1	4																																																																																			TLR3	-	NULL		0.313	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	C			187000002	1	no_errors	ENST00000296795	ensembl	human	known	70_37	silent	SNP	0.029	T	T	187000002	C	T	187000002	2	4	13	1	0	0	0	0	0	0	0	1	15982	816	29	1		1	TLR3	4	187000002	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2068982	187000002	4154274	259	1703										
TLR3	7098	genome.wustl.edu	37	chr4	187004149	187004149	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggccacctagaagtacttGacctgggccttaatgaaatt	10	9	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:187004149G>A	ENST00000296795.3	+	4	1413	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	TLR3_ENST00000504367.1_Missense_Mutation_p.D160N	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	437					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGAAGTACTTGACCTGGGCCT	0.408																																																	0													63	59	60					4																	187004149		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1309G>A	4.37:g.187004149G>A	ENSP00000296795:p.Asp437Asn		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D437N	ENST00000296795.3	37	c.1309	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268886	0.23221	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.57907	0.37;0.37	5.78	5.78	0.91487	.	0.196855	0.53938	D	0.000052	T	0.51092	0.1654	M	0.66939	2.045	0.44946	D	0.997968	P	0.42871	0.792	B	0.35688	0.208	T	0.50931	-0.8769	10	0.19147	T	0.46	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	437	O15455	TLR3_HUMAN	N	437;437;160	ENSP00000296795:D437N;ENSP00000423684:D160N	ENSP00000296795:D437N	D	+	1	0	TLR3	187241143	0.988000	0.35896	1.000000	0.80357	0.151000	0.21798	1.889000	0.39718	2.736000	0.93811	0.557000	0.71058	GAC	TLR3	-	smart_Leu-rich_rpt_typical-subtyp		0.408	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	G			187004149	1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	1.000	A	A	187004149	G	A	187004149	3	1	13	1	0	0	0	0	1	0	0	0	15982	1290	45	1	1319	1	TLR3	4	187004149	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4147	187004149	4150127	260	1704										
FAM149A	25854	genome.wustl.edu	37	chr4	187073141	187073141	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgaagggaaagtgaaccctCagacccagagtctgctggcc	12	11	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:187073141C>G	ENST00000356371.5	+	4	901	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	FAM149A_ENST00000502970.1_Missense_Mutation_p.Q10E|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.Q10E|FAM149A_ENST00000514153.1_Missense_Mutation_p.Q10E|FAM149A_ENST00000389354.5_Missense_Mutation_p.Q10E|FAM149A_ENST00000503432.1_Missense_Mutation_p.Q10E			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	301										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGTGAACCCTCAGACCCAGAG	0.517																																																	0													132	115	121					4																	187073141		2203	4300	6503	SO:0001583	missense	25854			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.901C>G	4.37:g.187073141C>G	ENSP00000348732:p.Gln301Glu		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.Q301E	ENST00000356371.5	37	c.901		4	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303489	0.60195	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000509574;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.54431	0.1858	M	0.74881	2.28	0.38666	D	0.952185	B;P;P	0.42296	0.141;0.536;0.775	B;B;B	0.43658	0.067;0.145;0.426	T	0.57154	-0.7860	10	0.33940	T	0.23	-12.4561	16.1747	0.81844	0.0:0.8667:0.1333:0.0	.	301;301;10	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	E	10;301;10;10;10;10;10;10;10	ENSP00000426835:Q10E;ENSP00000348732:Q301E;ENSP00000422330:Q10E;ENSP00000421713:Q10E;ENSP00000421136:Q10E;ENSP00000227065:Q10E;ENSP00000427155:Q10E;ENSP00000424380:Q10E;ENSP00000374005:Q10E	ENSP00000227065:Q10E	Q	+	1	0	FAM149A	187310135	0.964000	0.33143	0.992000	0.48379	0.537000	0.34900	2.070000	0.41491	2.802000	0.96397	0.650000	0.86243	CAG	FAM149A	-	pfam_DUF3719		0.517	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		C	NM_001006655		187073141	1	no_errors	ENST00000356371	ensembl	human	known	70_37	missense	SNP	0.993	G	G	187073141	C	G	187073141	3	3	13	1	0	0	0	0	1	0	0	0	5470	827	29	1	30	1	FAM149A	4	187073141	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	68992	187073141	4081135	261	1705										
NSUN2	54888	genome.wustl.edu	37	chr5	6632788	6632788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaactggccccactcgccctCgggcacgatcttgagctcct	10	17	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:6632788C>T	ENST00000264670.6	-	2	489	c.178G>A	c.(178-180)Gag>Aag	p.E60K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E60K|SRD5A1_ENST00000538824.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR|SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	60					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTCGCCCTCGGGCACGATC	0.562																																																	0													83	89	87					5																	6632788		2203	4300	6503	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.178G>A	5.37:g.6632788C>T	ENSP00000264670:p.Glu60Lys		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1	p.E60K	ENST00000264670.6	37	c.178	CCDS3869.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120375	0.77323	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.39056	1.1;1.11	4.81	3.94	0.45596	.	0.117980	0.56097	D	0.000034	T	0.34978	0.0916	M	0.67397	2.05	0.80722	D	1	P;B	0.36010	0.532;0.448	B;B	0.28553	0.053;0.091	T	0.14643	-1.0465	10	0.36615	T	0.2	-38.3956	8.3807	0.32470	0.0:0.7554:0.1569:0.0877	.	60;60	B4DQW2;Q08J23	.;NSUN2_HUMAN	K	60	ENSP00000264670:E60K;ENSP00000420957:E60K	ENSP00000264670:E60K	E	-	1	0	NSUN2	6685788	0.998000	0.40836	0.968000	0.41197	0.980000	0.70556	4.194000	0.58393	1.026000	0.39733	0.655000	0.94253	GAG	NSUN2	-	NULL		0.562	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSUN2	HGNC	protein_coding	OTTHUMT00000206902.1	C	NM_017755		6632788	-1	no_errors	ENST00000264670	ensembl	human	known	70_37	missense	SNP	0.974	T	T	6632788	C	T	6632788	3	4	13	1	0	0	0	0	1	0	0	0	10702	893	31	1	2197	1	NSUN2	5	6632788	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		6632788	174282472	262	1706										
ZNF622	90441	genome.wustl.edu	37	chr5	16465642	16465642	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cactcgctcctggaagccctCggcggtcactggggccatgc	13	16	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:16465642C>A	ENST00000308683.2	-	1	259	c.133G>T	c.(133-135)Gag>Tag	p.E45*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	45					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGGAAGCCCTCGGCGGTCACT	0.677																																																	0													38	39	39					5																	16465642		2202	4299	6501	SO:0001587	stop_gained	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.133G>T	5.37:g.16465642C>A	ENSP00000310042:p.Glu45*			Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.E45*	ENST00000308683.2	37	c.133	CCDS3886.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.651571	0.98412	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.4199	18.2346	0.89946	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000310042:E45X	E	-	1	0	ZNF622	16518642	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.516000	0.81772	2.520000	0.84964	0.650000	0.86243	GAG	ZNF622	-	NULL		0.677	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	HGNC	protein_coding	OTTHUMT00000207105.1	C	NM_033414		16465642	-1	no_errors	ENST00000308683	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	16465642	C	A	16465642	4	1	13	1	0	0	0	0	0	1	0	0	18076	893	31	3	1324	3	ZNF622	5	16465642	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9832854	16465642	164449618	263	1707										
CDH12	1010	genome.wustl.edu	37	chr5	21751850	21751850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcctccacgactcccttaaGtgactttatcagggttataa	7	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:21751850G>A	ENST00000382254.1	-	15	3467	c.2381C>T	c.(2380-2382)aCt>aTt	p.T794I	CDH12_ENST00000504376.2_Missense_Mutation_p.T794I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.T754I|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	794					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCCCTTAAGTGACTTTATC	0.418										HNSCC(59;0.17)																																							0													75	77	76					5																	21751850		2202	4300	6502	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2381C>T	5.37:g.21751850G>A	ENSP00000371689:p.Thr794Ile		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T794I	ENST00000382254.1	37	c.2381	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522693	0.44866	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55930	0.52;0.52;0.49	5.1	5.1	0.69264	.	0.203730	0.43110	D	0.000606	T	0.39759	0.1090	N	0.22421	0.69	0.39811	D	0.972702	P;P	0.44578	0.838;0.838	B;B	0.35413	0.202;0.202	T	0.52238	-0.8602	10	0.87932	D	0	.	18.5176	0.90941	0.0:0.0:1.0:0.0	.	754;794	B7Z2U6;P55289	.;CAD12_HUMAN	I	794;794;754	ENSP00000423577:T794I;ENSP00000371689:T794I;ENSP00000428786:T754I	ENSP00000371689:T794I	T	-	2	0	CDH12	21787607	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	8.012000	0.88631	2.379000	0.81126	0.467000	0.42956	ACT	CDH12	-	NULL		0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	G	NM_004061		21751850	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21751850	G	A	21751850	3	1	13	1	0	0	0	0	1	0	0	0	3103	1029	36	4	7	4	CDH12	5	21751850	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5286208	21751850	159163410	264	1708										
RNASEN	29102	genome.wustl.edu	37	chr5	31466361	31466361	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctaggaggtggcgaagtttCacataactcttccacagttt	10	9	2	0	rs143623944		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:31466361C>T	ENST00000511367.2	-	18	2638	c.2394G>A	c.(2392-2394)gtG>gtA	p.V798V	DROSHA_ENST00000344624.3_Silent_p.V798V|DROSHA_ENST00000513349.1_Silent_p.V761V|DROSHA_ENST00000442743.1_Silent_p.V761V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	798	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCGAAGTTTCACATAACTCT	0.418																																																	0													186	168	174					5																	31466361		1901	4117	6018	SO:0001819	synonymous_variant	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2394G>A	5.37:g.31466361C>T			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V798	ENST00000511367.2	37	c.2394	CCDS47195.1	5																																																																																			DROSHA	-	NULL		0.418	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	C	NM_013235		31466361	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31466361	C	T	31466361	2	4	13	1	0	0	0	0	0	0	0	1	13447	813	29	1		1	RNASEN	5	31466361	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9714511	31466361	149448899	265	1709										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33576974	33576974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttctttggaggctgtggtagGactagggctgctgattgctg	16	6	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:33576974G>C	ENST00000504830.1	-	19	3492	c.3157C>G	c.(3157-3159)Cct>Gct	p.P1053A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P968A|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1053	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGTGGTAGGACTAGGGCTG	0.557										HNSCC(64;0.19)																																							0													126	123	124					5																	33576974		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3157C>G	5.37:g.33576974G>C	ENSP00000422554:p.Pro1053Ala		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1053A	ENST00000504830.1	37	c.3157	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	4.828	0.153906	0.09185	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.21;0.18	5.08	2.87	0.33458	.	0.724118	0.13961	N	0.350835	T	0.45736	0.1357	L	0.32530	0.975	0.09310	N	1	B;B	0.26147	0.143;0.043	B;B	0.30572	0.117;0.04	T	0.39643	-0.9604	10	0.48119	T	0.1	.	7.4406	0.27181	0.3489:0.0:0.6511:0.0	.	968;1053	P58397-3;P58397	.;ATS12_HUMAN	A	1053;968	ENSP00000422554:P1053A;ENSP00000344847:P968A	ENSP00000344847:P968A	P	-	1	0	ADAMTS12	33612731	0.308000	0.24509	0.020000	0.16555	0.118000	0.20060	0.741000	0.26202	0.478000	0.27488	-0.136000	0.14681	CCT	ADAMTS12	-	NULL		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33576974	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.001	C	C	33576974	G	C	33576974	3	2	13	1	0	0	0	0	1	0	0	0	257	1174	41	1	1651	1	ADAMTS12	5	33576974	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2110613	33576974	147338286	266	1710										
ZNF131	7690	genome.wustl.edu	37	chr5	43161601	43161601	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agagcacaggttcctctgatGattctgctctagcactgttg	10	10	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:43161601G>A	ENST00000399534.1	+	5	666	c.622G>A	c.(622-624)Gat>Aat	p.D208N	ZNF131_ENST00000509634.1_Missense_Mutation_p.D208N|ZNF131_ENST00000509156.1_Missense_Mutation_p.D208N|ZNF131_ENST00000306938.4_Missense_Mutation_p.D208N|ZNF131_ENST00000505606.2_Missense_Mutation_p.D208N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	208					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTCCTCTGATGATTCTGCTCT	0.478																																																	0													69	64	65					5																	43161601		1919	4136	6055	SO:0001583	missense	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.622G>A	5.37:g.43161601G>A	ENSP00000382450:p.Asp208Asn		B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D208N	ENST00000399534.1	37	c.622		5	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023906	0.93462	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.42	5.42	0.78866	.	0.051433	0.85682	D	0.000000	T	0.78233	0.4251	N	0.24115	0.695	0.58432	D	0.999998	P;D	0.57257	0.651;0.979	B;P	0.56563	0.212;0.801	T	0.78051	-0.2355	10	0.38643	T	0.18	-18.3385	18.8273	0.92123	0.0:0.0:1.0:0.0	.	208;208	P52739;P52739-2	ZN131_HUMAN;.	N	208	ENSP00000422079:D208N;ENSP00000426504:D208N;ENSP00000305804:D208N;ENSP00000382450:D208N;ENSP00000423945:D208N;ENSP00000421246:D208N	ENSP00000305804:D208N	D	+	1	0	ZNF131	43197358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.232000	0.95325	2.545000	0.85829	0.650000	0.86243	GAT	ZNF131	-	NULL		0.478	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	G	NM_003432		43161601	1	no_errors	ENST00000399534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43161601	G	A	43161601	3	1	13	1	0	0	0	0	1	0	0	0	17751	1290	45	1	636	1	ZNF131	5	43161601	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9584627	43161601	137753659	267	1711										
MRPS30	10884	genome.wustl.edu	37	chr5	44809106	44809106	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggcctttgctacgcggtccGaggctttcattgcacaccgc	11	14	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:44809106G>A	ENST00000507110.1	+	1	80	c.42G>A	c.(40-42)ccG>ccA	p.P14P	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	14					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TACGCGGTCCGAGGCTTTCAT	0.637																																																	0													12	12	12					5																	44809106		2169	4253	6422	SO:0001819	synonymous_variant	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.42G>A	5.37:g.44809106G>A			Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	pfam_Ribosomal_L37/S30	p.P14	ENST00000507110.1	37	c.42	CCDS3951.1	5																																																																																			MRPS30	-	pfam_Ribosomal_L37/S30		0.637	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	HGNC	protein_coding	OTTHUMT00000214033.2	G	NM_016640		44809106	1	no_errors	ENST00000507110	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44809106	G	A	44809106	2	1	13	1	0	0	0	0	0	0	0	1	9863	1045	37	1		1	MRPS30	5	44809106	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1647505	44809106	136106154	268	1712										
ADAMTS6	11174	genome.wustl.edu	37	chr5	64766649	64766649	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cactttagttgtactacgttGatcttgcaaatatcctgtgt	7	8	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:64766649G>C	ENST00000536360.1	-	3	1231	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	140						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTACTACGTTGATCTTGCAAA	0.353																																																	0													88	85	86					5																	64766649		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.418C>G	5.37:g.64766649G>C	ENSP00000440995:p.Gln140Glu		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q140E	ENST00000536360.1	37	c.418		5	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960779	0.34565	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.04809	3.55;3.55;3.55	5.78	5.78	0.91487	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	L	0.46670	1.46	0.80722	D	1	P	0.38223	0.623	B	0.42882	0.401	T	0.40905	-0.9538	10	0.11794	T	0.64	.	16.6056	0.84827	0.0:0.1299:0.8701:0.0	.	140	Q9UKP5	ATS6_HUMAN	E	140	ENSP00000370443:Q140E;ENSP00000423551:Q140E;ENSP00000440995:Q140E	ENSP00000261306:Q140E	Q	-	1	0	ADAMTS6	64802405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.084000	0.76866	2.894000	0.99253	0.591000	0.81541	CAA	ADAMTS6	-	pfam_Peptidase_M12B_N		0.353	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		G	NM_197941		64766649	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64766649	G	C	64766649	3	2	13	1	0	0	0	0	1	0	0	0	270	1299	45	1	3027	1	ADAMTS6	5	64766649	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	19957543	64766649	116148611	269	1713										
TRIM23	373	genome.wustl.edu	37	chr5	64890377	64890377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcaaaaatcaggagcagagCatctcggagttctttttccg	10	9	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:64890377C>A	ENST00000231524.9	-	10	1887	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	TRIM23_ENST00000274327.7_Missense_Mutation_p.A506S|TRIM23_ENST00000381018.3_Missense_Mutation_p.A506S	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	506	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AGGAGCAGAGCATCTCGGAGT	0.358																																																	0													132	131	131					5																	64890377		2202	4300	6502	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1516G>T	5.37:g.64890377C>A	ENSP00000231524:p.Ala506Ser		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom	p.A506S	ENST00000231524.9	37	c.1516	CCDS3987.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.202753	0.94997	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.67523	-0.27;-0.27;-0.27	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	L	0.49455	1.56	0.80722	D	1	D;D;B	0.69078	0.981;0.997;0.001	D;D;B	0.80764	0.994;0.967;0.044	T	0.80091	-0.1527	10	0.72032	D	0.01	.	19.6986	0.96043	0.0:1.0:0.0:0.0	.	506;506;506	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	S	506	ENSP00000231524:A506S;ENSP00000370406:A506S;ENSP00000274327:A506S	ENSP00000231524:A506S	A	-	1	0	TRIM23	64926133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.645000	0.89757	0.591000	0.81541	GCT	TRIM23	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.358	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2	C	NM_001656		64890377	-1	no_errors	ENST00000231524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64890377	C	A	64890377	3	1	13	1	0	0	0	0	1	0	0	0	16528	710	25	4	283	4	TRIM23	5	64890377	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	123728	64890377	116024883	270	1714										
ERBB2IP	55914	genome.wustl.edu	37	chr5	65342187	65342187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttcttttacttagacctcaGaaagtactactacagtaaaa	4	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:65342187G>A	ENST00000284037.5	+	18	1998	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E537K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E533K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E537K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E537K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	537					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTAGACCTCAGAAAGTACTAC	0.299																																																	0													86	97	93					5																	65342187		2200	4299	6499	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1609G>A	5.37:g.65342187G>A	ENSP00000284037:p.Glu537Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E537K	ENST00000284037.5	37	c.1609	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079937	0.36662	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41	5.68	5.68	0.88126	.	0.175935	0.50627	D	0.000111	T	0.04318	0.0119	N	0.08118	0	0.54753	D	0.999982	B;B;B;B;P;B;B	0.34562	0.007;0.004;0.004;0.004;0.457;0.005;0.003	B;B;B;B;B;B;B	0.31390	0.014;0.011;0.011;0.003;0.129;0.014;0.005	T	0.57613	-0.7781	10	0.25106	T	0.35	.	17.9686	0.89106	0.0:0.0:1.0:0.0	.	537;537;537;533;537;537;537	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	537;537;537;537;537;537;533;537;537	ENSP00000284037:E537K;ENSP00000370330:E537K;ENSP00000370326:E537K;ENSP00000370323:E537K;ENSP00000370322:E537K;ENSP00000370325:E537K;ENSP00000422766:E533K;ENSP00000426632:E537K;ENSP00000422015:E537K	ENSP00000284037:E537K	E	+	1	0	ERBB2IP	65377943	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.683000	0.91414	0.655000	0.94253	GAA	ERBB2IP	-	NULL		0.299	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65342187	1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65342187	G	A	65342187	3	1	13	1	0	0	0	0	1	0	0	0	5219	943	33	1	1671	1	ERBB2IP	5	65342187	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	451810	65342187	115573073	271	1715										
CMYA5	202333	genome.wustl.edu	37	chr5	79030491	79030491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtatctgctcttgatacttCcagtggtaatacagagacct	8	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:79030491C>T	ENST00000446378.2	+	2	5934	c.5903C>T	c.(5902-5904)tCc>tTc	p.S1968F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1968					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTGATACTTCCAGTGGTAAT	0.413																																																	0													75	73	74					5																	79030491		1888	4104	5992	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5903C>T	5.37:g.79030491C>T	ENSP00000394770:p.Ser1968Phe		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1968F	ENST00000446378.2	37	c.5903	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714693	0.30413	.	.	ENSG00000164309	ENST00000446378	T	0.43294	0.95	5.26	4.4	0.53042	.	1.024180	0.07844	N	0.963438	T	0.30103	0.0754	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.25433	-1.0132	10	0.72032	D	0.01	.	10.0014	0.41931	0.0:0.9059:0.0:0.0941	.	1968	Q8N3K9	CMYA5_HUMAN	F	1968	ENSP00000394770:S1968F	ENSP00000394770:S1968F	S	+	2	0	CMYA5	79066247	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	1.362000	0.34148	1.212000	0.43366	0.555000	0.69702	TCC	CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79030491	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.003	T	T	79030491	C	T	79030491	3	4	13	1	0	0	0	0	1	0	0	0	3595	855	30	1	5909	1	CMYA5	5	79030491	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	13688304	79030491	101884769	272	1716										
CMYA5	202333	genome.wustl.edu	37	chr5	79032785	79032785	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggttctttcttgtcatgatGaaatagagaaccactctttg	8	7	4	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:79032785G>A	ENST00000446378.2	+	2	8228	c.8197G>A	c.(8197-8199)Gaa>Aaa	p.E2733K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2733					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGTCATGATGAAATAGAGAA	0.393																																																	0													50	49	49					5																	79032785		1834	4074	5908	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8197G>A	5.37:g.79032785G>A	ENSP00000394770:p.Glu2733Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2733K	ENST00000446378.2	37	c.8197	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444841	0.43429	.	.	ENSG00000164309	ENST00000446378	T	0.17691	2.26	4.09	3.2	0.36748	.	0.112589	0.40144	N	0.001170	T	0.17323	0.0416	L	0.46157	1.445	0.09310	N	1	P	0.37015	0.578	B	0.40199	0.322	T	0.08973	-1.0696	10	0.62326	D	0.03	.	9.1679	0.37063	0.1074:0.0:0.8926:0.0	.	2733	Q8N3K9	CMYA5_HUMAN	K	2733	ENSP00000394770:E2733K	ENSP00000394770:E2733K	E	+	1	0	CMYA5	79068541	0.017000	0.18338	0.019000	0.16419	0.199000	0.23934	0.938000	0.28965	0.861000	0.35504	0.478000	0.44815	GAA	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79032785	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.150	A	A	79032785	G	A	79032785	3	1	13	1	0	0	0	0	1	0	0	0	3595	1291	45	1	8203	1	CMYA5	5	79032785	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2294	79032785	101882475	273	1717										
ATG10	83734	genome.wustl.edu	37	chr5	81549226	81549226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccaaagcaacgtctcaggaTgaacgaaatgtcccttaaca	8	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:81549226T>C	ENST00000282185.3	+	7	939	c.645T>C	c.(643-645)gaT>gaC	p.D215D	ATG10_ENST00000458350.3_Silent_p.D215D|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	215					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CGTCTCAGGATGAACGAAATG	0.418																																																	0													146	128	134					5																	81549226		2203	4300	6503	SO:0001819	synonymous_variant	83734			AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"APG10 autophagy 10-like (S. cerevisiae)", "ATG10 autophagy related 10 homolog (S. cerevisiae)"	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.645T>C	5.37:g.81549226T>C			B2RE09|Q6PIX1|Q9H842	Silent	SNP	pfam_Autophagy-rel_prot_3	p.D215	ENST00000282185.3	37	c.645	CCDS4057.1	5																																																																																			ATG10	-	NULL		0.418	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG10	HGNC	protein_coding	OTTHUMT00000239252.2	T	NM_001131028		81549226	1	no_errors	ENST00000282185	ensembl	human	known	70_37	silent	SNP	0.000	C	C	81549226	T	C	81549226	2	2	13	1	0	0	0	0	0	0	0	1	1090	1461	51	5		5	ATG10	5	81549226	Silent	SNP	T	TCGA-C5-A1BQ-01C-11D-A20U-09	2516441	81549226	99366034	274	1718										
GPR98	84059	genome.wustl.edu	37	chr5	90059175	90059175	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctgattcatatgtgacattGacggttgtccggtccccagg	11	11	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:90059175G>T	ENST00000405460.2	+	59	12270	c.12174G>T	c.(12172-12174)ttG>ttT	p.L4058F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4058	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTGACATTGACGGTTGTCC	0.418																																																	0													66	62	63					5																	90059175		1858	4106	5964	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12174G>T	5.37:g.90059175G>T	ENSP00000384582:p.Leu4058Phe		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L4058F	ENST00000405460.2	37	c.12174	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168259	0.57476	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27720	1.65	5.21	0.813	0.18749	Na-Ca exchanger/integrin-beta4 (2);	0.068388	0.56097	D	0.000024	T	0.40473	0.1118	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.31110	-0.9955	10	0.48119	T	0.1	.	1.6233	0.02718	0.3168:0.23:0.3368:0.1164	.	4058	Q8WXG9	GPR98_HUMAN	F	4058	ENSP00000384582:L4058F	ENSP00000296619:L4058F	L	+	3	2	GPR98	90094931	0.976000	0.34144	0.991000	0.47740	0.990000	0.78478	0.038000	0.13862	0.198000	0.20407	0.563000	0.77884	TTG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90059175	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.970	T	T	90059175	G	T	90059175	3	4	13	1	0	0	0	0	1	0	0	0	6741	1281	45	3	12408	3	GPR98	5	90059175	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8509949	90059175	90856085	275	1719										
FAM174A	345757	genome.wustl.edu	37	chr5	99871472	99871472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgcggggccgcggggctccGagggaggcaatggcagcaac	19	12	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:99871472G>A	ENST00000312637.4	+	1	464	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	80						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGGGGCTCCGAGGGAGGCAA	0.716																																																	0													10	14	12					5																	99871472		2186	4279	6465	SO:0001583	missense	345757			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"transmembrane protein 157"	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.238G>A	5.37:g.99871472G>A	ENSP00000307954:p.Glu80Lys		A8K0H4	Missense_Mutation	SNP	pfam_DUF1180	p.E80K	ENST00000312637.4	37	c.238	CCDS4090.1	5	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211359	0.58343	.	.	ENSG00000174132	ENST00000312637	T	0.46451	0.87	4.4	4.4	0.53042	.	0.984595	0.08270	N	0.971669	T	0.44477	0.1295	L	0.51422	1.61	0.09310	N	1	P	0.51791	0.948	P	0.45195	0.473	T	0.32981	-0.9886	9	.	.	.	-6.9415	12.6504	0.56757	0.0:0.0:1.0:0.0	.	80	Q8TBP5	F174A_HUMAN	K	80	ENSP00000307954:E80K	.	E	+	1	0	FAM174A	99899371	0.010000	0.17322	0.006000	0.13384	0.146000	0.21551	1.311000	0.33562	2.433000	0.82419	0.557000	0.71058	GAG	FAM174A	-	pfam_DUF1180		0.716	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	G	NM_198507		99871472	1	no_errors	ENST00000312637	ensembl	human	known	70_37	missense	SNP	0.009	A	A	99871472	G	A	99871472	3	1	13	1	0	0	0	0	1	0	0	0	5510	1059	37	1	240	1	FAM174A	5	99871472	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9812297	99871472	81043788	276	1720										
APC	324	genome.wustl.edu	37	chr5	112178870	112178870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaagaccagcaaagcgccatGatattgcacggtctcattct	9	11	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:112178870G>A	ENST00000457016.1	+	16	7959	c.7579G>A	c.(7579-7581)Gat>Aat	p.D2527N	APC_ENST00000508376.2_Missense_Mutation_p.D2527N|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D2527N			P25054	APC_HUMAN	adenomatous polyposis coli	2527	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGCGCCATGATATTGCACG	0.468		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											96	86	90					5																	112178870		2202	4299	6501	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7579G>A	5.37:g.112178870G>A	ENSP00000413133:p.Asp2527Asn		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D2527N	ENST00000457016.1	37	c.7579	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335513	0.81801	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83250	-1.7;-1.7;-1.7	6.07	6.07	0.98685	Adenomatous polyposis coli protein basic domain (1);	0.090542	0.85682	D	0.000000	D	0.89483	0.6728	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.86957	0.2089	9	.	.	.	-22.7673	20.6439	0.99570	0.0:0.0:1.0:0.0	.	2529;2527	Q4LE70;P25054	.;APC_HUMAN	N	2527	ENSP00000413133:D2527N;ENSP00000257430:D2527N;ENSP00000427089:D2527N	.	D	+	1	0	APC	112206769	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.116000	0.77119	2.884000	0.98904	0.655000	0.94253	GAT	APC	-	pfam_APC_basic_dom		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112178870	1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112178870	G	A	112178870	3	1	13	1	0	0	0	0	1	0	0	0	763	1290	45	1	7637	1	APC	5	112178870	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12307398	112178870	68736390	277	1721										
RAPGEF6	51735	genome.wustl.edu	37	chr5	130846163	130846163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagacgtgtcaaatctacatCtcctacctcactctccgtag	5	14	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:130846163C>T	ENST00000509018.1	-	8	854	c.649G>A	c.(649-651)Gat>Aat	p.D217N	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D217N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D217N|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.D217N|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D217N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D217N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D267N|RAPGEF6_ENST00000512052.1_5'Flank	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	217					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAATCTACATCTCCTACCTCA	0.398																																					Melanoma(168;435 1955 13113 13877 23213)												0													120	112	115					5																	130846163		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.649G>A	5.37:g.130846163C>T	ENSP00000421684:p.Asp217Asn		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D217N	ENST00000509018.1	37	c.649	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.560176	0.96527	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000504575;ENST00000504039;ENST00000514667	T;T;T;T;T;T;T;T	0.55052	1.39;1.31;1.31;1.39;1.26;1.85;0.54;1.5	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.999;0.994;0.999;0.999;0.987	T	0.71052	-0.4704	10	0.45353	T	0.12	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	217;217;217;267;217;217	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	N	217;217;217;217;217;217;217;45;70;70;267	ENSP00000421684:D217N;ENSP00000309298:D217N;ENSP00000426081:D217N;ENSP00000296859:D217N;ENSP00000311419:D217N;ENSP00000425389:D217N;ENSP00000424574:D45N;ENSP00000426948:D267N	ENSP00000426948:D267N	D	-	1	0	RAPGEF6;FNIP1	130874062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.657000	0.90304	0.563000	0.77884	GAT	RAPGEF6	-	NULL		0.398	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	C	NM_016340		130846163	-1	no_errors	ENST00000509018	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130846163	C	T	130846163	3	4	13	1	0	0	0	0	1	0	0	0	13078	913	32	1	4726	1	RAPGEF6	5	130846163	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	18667293	130846163	50069097	278	1722										
IRF1	3659	genome.wustl.edu	37	chr5	131820129	131820129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtgggctggactccaggttCattgagtaggtaccccttcc	13	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:131820129C>G	ENST00000245414.4	-	9	1036	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Missense_Mutation_p.E260Q	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	260					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ACTCCAGGTTCATTGAGTAGG	0.547																																																	0													149	143	145					5																	131820129		2203	4300	6503	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.778G>C	5.37:g.131820129C>G	ENSP00000245414:p.Glu260Gln		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.E260Q	ENST00000245414.4	37	c.778	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585789	0.86748	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81996	-1.56;-1.56	5.67	5.67	0.87782	.	1.223500	0.05298	N	0.522540	D	0.91620	0.7352	M	0.64997	1.995	0.58432	D	0.999999	D	0.69078	0.997	D	0.75484	0.986	T	0.82776	-0.0290	10	0.72032	D	0.01	-23.0179	17.2762	0.87116	0.0:1.0:0.0:0.0	.	260	P10914	IRF1_HUMAN	Q	260	ENSP00000245414:E260Q;ENSP00000384406:E260Q	ENSP00000245414:E260Q	E	-	1	0	IRF1	131848028	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.741000	0.62095	2.677000	0.91161	0.561000	0.74099	GAA	IRF1	-	pirsf_Interferon_reg_fac-1/2		0.547	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	C	NM_002198		131820129	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131820129	C	G	131820129	3	3	13	1	0	0	0	0	1	0	0	0	7847	835	29	1	207	1	IRF1	5	131820129	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	973966	131820129	49095131	279	1723										
PSD2	84249	genome.wustl.edu	37	chr5	139201535	139201535	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caagagcgtgagcgggtcctCacacacttctcccgccggta	11	15	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:139201535C>T	ENST00000274710.3	+	6	1360	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	385	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGTCCTCACACACTTCT	0.592																																																	0													153	118	130					5																	139201535		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1155C>T	5.37:g.139201535C>T			D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L385	ENST00000274710.3	37	c.1155	CCDS4216.1	5																																																																																			PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	C	NM_032289		139201535	1	no_errors	ENST00000274710	ensembl	human	known	70_37	silent	SNP	0.000	T	T	139201535	C	T	139201535	2	4	13	1	0	0	0	0	0	0	0	1	12674	813	29	1		1	PSD2	5	139201535	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7381406	139201535	41713725	280	1724										
PCDHB1	29930	genome.wustl.edu	37	chr5	140433012	140433012	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggatcacggccaaccagctCtttccactactgtctcactc	6	16	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:140433012C>T	ENST00000306549.3	+	1	2034	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACCAGCTCTTTCCACTAC	0.448																																																	0													142	138	139					5																	140433012		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1957C>T	5.37:g.140433012C>T	ENSP00000307234:p.Leu653Phe		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L653F	ENST00000306549.3	37	c.1957	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030889	0.54790	.	.	ENSG00000171815	ENST00000306549	T	0.55760	0.5	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000647	T	0.78142	0.4237	M	0.87328	2.875	0.49915	D	0.999835	D	0.89917	1.0	D	0.79784	0.993	T	0.79227	-0.1890	10	0.59425	D	0.04	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	653	Q9Y5F3	PCDB1_HUMAN	F	653	ENSP00000307234:L653F	ENSP00000307234:L653F	L	+	1	0	PCDHB1	140413196	0.960000	0.32886	1.000000	0.80357	0.521000	0.34408	6.026000	0.70873	2.894000	0.99253	0.655000	0.94253	CTT	PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	C	NM_013340		140433012	1	no_errors	ENST00000306549	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140433012	C	T	140433012	3	4	13	1	0	0	0	0	1	0	0	0	11558	913	32	1	1959	1	PCDHB1	5	140433012	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1231477	140433012	40482248	281	1725										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140719441	140719441	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagtcaacatctggagaactGacaatcataaaagatctaga	7	7	4	4	rs141252229		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:140719441G>C	ENST00000394576.2	+	1	903	c.903G>C	c.(901-903)ctG>ctC	p.L301L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGAACTGACAATCATAA	0.428																																																	0													144	155	151					5																	140719441		2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.903G>C	5.37:g.140719441G>C			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L301	ENST00000394576.2	37	c.903	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140719441	1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.019	C	C	140719441	G	C	140719441	2	2	13	1	0	0	0	0	0	0	0	1	11578	1277	45	1		1	PCDHGA2	5	140719441	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	286429	140719441	40195819	282	1726										
ARAP3	64411	genome.wustl.edu	37	chr5	141059987	141059987	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccatgccgtcggaacgtgtCtgcatactgctccaggtgca	12	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:141059987C>T	ENST00000239440.4	-	2	132	c.67G>A	c.(67-69)Gac>Aac	p.D23N	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	23	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGAACGTGTCTGCATACTGC	0.677																																																	0													43	41	42					5																	141059987		2203	4299	6502	SO:0001583	missense	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.67G>A	5.37:g.141059987C>T	ENSP00000239440:p.Asp23Asn		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.D23N	ENST00000239440.4	37	c.67	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614759	0.87359	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;D	0.86769	-2.17;-2.17	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.92364	0.7577	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90995	0.4838	10	0.29301	T	0.29	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	23	Q8WWN8	ARAP3_HUMAN	N	23	ENSP00000239440:D23N;ENSP00000421148:D23N	ENSP00000239440:D23N	D	-	1	0	ARAP3	141040171	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.318000	0.59190	2.272000	0.75746	0.462000	0.41574	GAC	ARAP3	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.677	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	C	NM_022481		141059987	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141059987	C	T	141059987	3	4	13	1	0	0	0	0	1	0	0	0	840	913	32	1	4695	1	ARAP3	5	141059987	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	340546	141059987	39855273	283	1727										
SPRY4	81848	genome.wustl.edu	37	chr5	141694457	141694457	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggcgggcgtcggggccagctCtggggccccgccccgggtcc	19	17	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:141694457C>T	ENST00000434127.2	-	2	460	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SPRY4_ENST00000344120.4_Missense_Mutation_p.E96K|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	73					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCAGCTCTGGGGCCCCG	0.652									Testicular Cancer, Familial Clustering of																																								0													22	28	26					5																	141694457		2201	4295	6496	SO:0001583	missense	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.217G>A	5.37:g.141694457C>T	ENSP00000399468:p.Glu73Lys		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	pfam_Sprouty	p.E96K	ENST00000434127.2	37	c.286	CCDS47296.1	5	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392702	0.42410	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661	T;T	0.63744	-0.06;-0.04	5.77	4.9	0.64082	.	0.260862	0.23933	N	0.043135	T	0.44829	0.1312	N	0.22421	0.69	0.41921	D	0.99051	B;B	0.29988	0.264;0.075	B;B	0.27715	0.082;0.026	T	0.36383	-0.9750	10	0.07644	T	0.81	-24.082	14.5431	0.68011	0.0:0.9299:0.0:0.0701	.	73;73	Q9C004-2;Q9C004	.;SPY4_HUMAN	K	96;73;73	ENSP00000344967:E96K;ENSP00000399468:E73K	ENSP00000344967:E96K	E	-	1	0	SPRY4	141674641	0.998000	0.40836	0.429000	0.26710	0.762000	0.43233	3.526000	0.53509	1.445000	0.47624	0.561000	0.74099	GAG	SPRY4	-	NULL		0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY4	HGNC	protein_coding	OTTHUMT00000370652.1	C			141694457	-1	no_errors	ENST00000344120	ensembl	human	known	70_37	missense	SNP	0.999	T	T	141694457	C	T	141694457	3	4	13	1	0	0	0	0	1	0	0	0	15138	922	32	1	686	1	SPRY4	5	141694457	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	634470	141694457	39220803	284	1728										
PPP2R2B	5521	genome.wustl.edu	37	chr5	146070736	146070736	+	Missense_Mutation	SNP	A	A	C													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcccggagccggccctcctcAtctttcagattgtagccttc							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:146070736A>C	ENST00000394413.3	-	4	972	c.402T>G	c.(400-402)gaT>gaG	p.D134E	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D134E|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D200E|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D192E|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D140E|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D123E|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D134E|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D134E|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D137E|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D123E			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	134					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCCTCCTCATCTTTCAGAT	0.537																																																	0													100	107	105					5																	146070736		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.402T>G	5.37:g.146070736A>C	ENSP00000377935:p.Asp134Glu		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.D200E	ENST00000394413.3	37	c.600	CCDS4284.1	5	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868620	0.51588	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.73469	-0.74;-0.74;1.56;-0.74;-0.74;-0.74;-0.74;-0.75;-0.74;1.56	5.85	5.85	0.93711	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	N	0.20881	0.62	0.80722	D	1	B;B;B;B;B;B	0.13145	0.003;0.005;0.005;0.007;0.006;0.002	B;B;B;B;B;B	0.15052	0.011;0.012;0.007;0.011;0.008;0.012	T	0.57294	-0.7836	10	0.17369	T	0.5	-6.9284	16.2303	0.82332	1.0:0.0:0.0:0.0	.	192;140;123;200;137;134	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	E	134;123;200;134;134;134;123;137;140;192	ENSP00000377935:D134E;ENSP00000431320:D123E;ENSP00000377936:D200E;ENSP00000377933:D134E;ENSP00000349283:D134E;ENSP00000398779:D134E;ENSP00000377932:D123E;ENSP00000336591:D137E;ENSP00000421396:D140E;ENSP00000377931:D192E	ENSP00000336591:D137E	D	-	3	2	AC011357.1	146050929	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.313000	0.33585	2.233000	0.73108	0.533000	0.62120	GAT	PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.537	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	A	NM_181678		146070736	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	missense	SNP	1.000	C	C	146070736	A	C	146070736	3	2	13	1	0	0	0	0	1	0	0	0	12412	214	8	5	953	5	PPP2R2B	5	146070736	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	4376279	146070736	34844524	285	1729	6	2								
PPP2R2B	5521	genome.wustl.edu	37	chr5	146070742	146070742	+	Silent	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agccggccctcctcatctttCagattgtagccttctggcct							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:146070742C>T	ENST00000394413.3	-	4	966	c.396G>A	c.(394-396)ctG>ctA	p.L132L	PPP2R2B_ENST00000453001.1_Silent_p.L132L|PPP2R2B_ENST00000394414.1_Silent_p.L198L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.L190L|PPP2R2B_ENST00000504198.1_Silent_p.L138L|PPP2R2B_ENST00000508545.2_Silent_p.L121L|PPP2R2B_ENST00000394411.4_Silent_p.L132L|PPP2R2B_ENST00000356826.3_Silent_p.L132L|PPP2R2B_ENST00000336640.6_Silent_p.L135L|PPP2R2B_ENST00000394410.2_Silent_p.L121L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	132					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCATCTTTCAGATTGTAGC	0.537																																																	0													102	109	107					5																	146070742		2203	4300	6503	SO:0001819	synonymous_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.396G>A	5.37:g.146070742C>T			A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L198	ENST00000394413.3	37	c.594	CCDS4284.1	5																																																																																			PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.537	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	C	NM_181678		146070742	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	silent	SNP	1.000	T	T	146070742	C	T	146070742	2	4	13	1	0	0	0	0	0	0	0	1	12412	813	29	1		1	PPP2R2B	5	146070742	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6	146070742	34844518	286	1730	6	2								
SOX30	11063	genome.wustl.edu	37	chr5	157078629	157078629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaccggtttcgacggcccctCgaggccccactgactgatcc	11	17	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:157078629C>G	ENST00000265007.6	-	1	799	c.458G>C	c.(457-459)cGa>cCa	p.R153P	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.R153P	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	153					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACGGCCCCTCGAGGCCCCAC	0.677																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													16	19	18					5																	157078629		2183	4259	6442	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.458G>C	5.37:g.157078629C>G	ENSP00000265007:p.Arg153Pro		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R153P	ENST00000265007.6	37	c.458	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689553	0.14973	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.99089	-5.41;-4.86	4.62	2.79	0.32731	.	0.194074	0.24700	N	0.036311	D	0.95586	0.8565	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.16289	0.015;0.001	D	0.90551	0.4509	10	0.72032	D	0.01	.	2.7539	0.05288	0.1482:0.5429:0.1437:0.1652	.	153;153	O94993-2;O94993	.;SOX30_HUMAN	P	153	ENSP00000309343:R153P;ENSP00000265007:R153P	ENSP00000265007:R153P	R	-	2	0	SOX30	157011207	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.574000	0.23714	0.347000	0.23924	-0.680000	0.03767	CGA	SOX30	-	NULL		0.677	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	C	NM_007017		157078629	-1	no_errors	ENST00000265007	ensembl	human	known	70_37	missense	SNP	0.001	G	G	157078629	C	G	157078629	3	3	13	1	0	0	0	0	1	0	0	0	14982	884	31	1	1823	1	SOX30	5	157078629	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	11007887	157078629	23836631	287	1731										
SOX30	11063	genome.wustl.edu	37	chr5	157078993	157078993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cggagggggctccatggctgCtgcccaaaaggaggtgccct	16	12	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:157078993C>T	ENST00000265007.6	-	1	435	c.94G>A	c.(94-96)Gca>Aca	p.A32T	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.A32T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	32	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATGGCTGCTGCCCAAAAG	0.731																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													3	4	4					5																	157078993		1898	3951	5849	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.94G>A	5.37:g.157078993C>T	ENSP00000265007:p.Ala32Thr		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A32T	ENST00000265007.6	37	c.94	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141579	0.37825	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98362	-4.89;-4.46	4.05	2.18	0.27775	.	0.000000	0.33515	U	0.004823	D	0.94430	0.8208	L	0.29908	0.895	0.21652	N	0.999601	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.004	D	0.88993	0.3416	10	0.72032	D	0.01	.	6.5706	0.22537	0.1773:0.7291:0.0:0.0936	.	32;32	O94993-2;O94993	.;SOX30_HUMAN	T	32	ENSP00000309343:A32T;ENSP00000265007:A32T	ENSP00000265007:A32T	A	-	1	0	SOX30	157011571	0.167000	0.22975	0.026000	0.17262	0.166000	0.22503	3.992000	0.56980	0.318000	0.23185	0.305000	0.20034	GCA	SOX30	-	NULL		0.731	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	C	NM_007017		157078993	-1	no_errors	ENST00000265007	ensembl	human	known	70_37	missense	SNP	0.090	T	T	157078993	C	T	157078993	3	4	13	1	0	0	0	0	1	0	0	0	14982	797	28	4	2187	4	SOX30	5	157078993	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	364	157078993	23836267	288	1732										
SLU7	10569	genome.wustl.edu	37	chr5	159842247	159842247	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggttcttccaaactcatttCtttggaccccgataggggtg	10	10	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:159842247C>T	ENST00000297151.4	-	2	442	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	19					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			AAACTCATTTCTTTGGACCCC	0.448																																																	0													137	135	136					5																	159842247		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.55G>A	5.37:g.159842247C>T	ENSP00000297151:p.Glu19Lys		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.E19K	ENST00000297151.4	37	c.55	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496196	0.26861	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.45668	1.51;0.9;0.89	5.68	3.91	0.45181	.	0.416829	0.30510	N	0.009476	T	0.23249	0.0562	N	0.17474	0.49	0.30985	N	0.722041	B	0.15141	0.012	B	0.11329	0.006	T	0.18903	-1.0322	10	0.18276	T	0.48	.	7.7472	0.28875	0.0:0.7245:0.1338:0.1417	.	19	O95391	SLU7_HUMAN	K	19	ENSP00000297151:E19K;ENSP00000428943:E19K;ENSP00000429990:E19K	ENSP00000297151:E19K	E	-	1	0	SLU7	159774825	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.754000	0.68743	0.758000	0.33059	0.650000	0.86243	GAA	SLU7	-	NULL		0.448	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	C	NM_006425		159842247	-1	no_errors	ENST00000297151	ensembl	human	known	70_37	missense	SNP	0.995	T	T	159842247	C	T	159842247	3	4	13	1	0	0	0	0	1	0	0	0	14785	922	32	1	1765	1	SLU7	5	159842247	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2763254	159842247	21073013	289	1733										
FOXI1	2299	genome.wustl.edu	37	chr5	169533307	169533307	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggctgcccatcccctcgcagGaggagctgatgaagctggtg	15	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:169533307G>T	ENST00000306268.6	+	1	407	c.346G>T	c.(346-348)Gag>Tag	p.E116*	FOXI1_ENST00000449804.2_Nonsense_Mutation_p.E116*			Q12951	FOXI1_HUMAN	forkhead box I1	116					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTCGCAGGAGGAGCTGAT	0.677									Pendred syndrome																																								0													21	19	20					5																	169533307		2201	4296	6497	SO:0001587	stop_gained	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.346G>T	5.37:g.169533307G>T	ENSP00000304286:p.Glu116*		Q14518|Q66SR7|Q8N6L8	Nonsense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E116*	ENST00000306268.6	37	c.346	CCDS4372.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.061169	0.97246	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.6553	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	116	.	ENSP00000304286:E116X	E	+	1	0	FOXI1	169465885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.114000	0.64648	2.401000	0.81631	0.655000	0.94253	GAG	FOXI1	-	NULL		0.677	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	HGNC	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188		169533307	1	no_errors	ENST00000306268	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	169533307	G	T	169533307	4	4	13	1	0	0	0	0	0	1	0	0	6027	1175	41	3	348	3	FOXI1	5	169533307	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9691060	169533307	11381953	290	1734										
TBC1D9B	23061	genome.wustl.edu	37	chr5	179303026	179303026	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcaggagcaccgaggtcacGatgttcattgcctgccgggc	14	12	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:179303026G>A	ENST00000356834.3	-	11	1831	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	TBC1D9B_ENST00000355235.3_Silent_p.I598I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	598	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGTCACGATGTTCATTG	0.632																																																	0													57	47	50					5																	179303026		2202	4300	6502	SO:0001819	synonymous_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1794C>T	5.37:g.179303026G>A			D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.I598	ENST00000356834.3	37	c.1794	CCDS43408.1	5																																																																																			TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	G	NM_015043		179303026	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	silent	SNP	0.983	A	A	179303026	G	A	179303026	2	1	13	1	0	0	0	0	0	0	0	1	15658	1048	37	1		1	TBC1D9B	5	179303026	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9769719	179303026	1612234	291	1735										
DSP	1832	genome.wustl.edu	37	chr6	7566688	7566688	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgaccaacttgtcctcaatCagcatccagcttcagacaaa	6	13	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:7566688C>G	ENST00000379802.3	+	8	1359	c.1018C>G	c.(1018-1020)Cag>Gag	p.Q340E	DSP_ENST00000418664.2_Missense_Mutation_p.Q340E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	340	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGTCCTCAATCAGCATCCAGC	0.328																																																	0													124	120	121					6																	7566688		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1018C>G	6.37:g.7566688C>G	ENSP00000369129:p.Gln340Glu		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q340E	ENST00000379802.3	37	c.1018	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081525	0.76528	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92299	-3.01;-3.01	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000015	D	0.84946	0.5585	L	0.39020	1.185	0.43662	D	0.996084	P;P	0.37122	0.583;0.583	B;B	0.36030	0.216;0.216	D	0.84377	0.0547	10	0.29301	T	0.29	.	19.5444	0.95285	0.0:1.0:0.0:0.0	.	387;340	Q4LE79;P15924	.;DESP_HUMAN	E	340;340;145	ENSP00000369129:Q340E;ENSP00000396591:Q340E	ENSP00000369129:Q340E	Q	+	1	0	DSP	7511687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.721000	0.47260	2.683000	0.91414	0.655000	0.94253	CAG	DSP	-	smart_Spectrin/alpha-actinin		0.328	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7566688	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7566688	C	G	7566688	3	3	13	1	0	0	0	0	1	0	0	0	4791	827	29	1	1048	1	DSP	6	7566688	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		7566688	163548379	292	1736										
SYCP2L	221711	genome.wustl.edu	37	chr6	10942745	10942745	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttccttgaagcactcagaaGatgaagaaaaacctaaggta	8	8	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:10942745G>T	ENST00000283141.6	+	22	2163	c.1867G>T	c.(1867-1869)Gat>Tat	p.D623Y		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	623						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCACTCAGAAGATGAAGAAAA	0.368																																																	0													46	43	44					6																	10942745		1822	4078	5900	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1867G>T	6.37:g.10942745G>T	ENSP00000283141:p.Asp623Tyr		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.D623Y	ENST00000283141.6	37	c.1867	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	4.541	0.100525	0.08731	.	.	ENSG00000153157	ENST00000283141	T	0.18657	2.2	4.13	3.25	0.37280	.	0.631105	0.14198	N	0.334877	T	0.06234	0.0161	N	0.22421	0.69	0.33368	D	0.573266	P	0.49447	0.924	B	0.41036	0.346	T	0.17501	-1.0367	10	0.51188	T	0.08	-6.6541	8.2446	0.31680	0.1091:0.0:0.8909:0.0	.	623	Q5T4T6	SYC2L_HUMAN	Y	623	ENSP00000283141:D623Y	ENSP00000283141:D623Y	D	+	1	0	SYCP2L	11050731	0.985000	0.35326	0.340000	0.25575	0.076000	0.17211	0.348000	0.20031	1.288000	0.44600	0.655000	0.94253	GAT	SYCP2L	-	NULL		0.368	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	G	NM_194299		10942745	1	no_errors	ENST00000283141	ensembl	human	known	70_37	missense	SNP	0.562	T	T	10942745	G	T	10942745	3	4	13	1	0	0	0	0	1	0	0	0	15463	942	33	3	1953	3	SYCP2L	6	10942745	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3376057	10942745	160172322	293	1737										
HIVEP1	3096	genome.wustl.edu	37	chr6	12121938	12121938	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actggaaggaaagcaagactCtcacgtaggaacggtacacg	12	9	1	1	rs369522683		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:12121938C>G	ENST00000379388.2	+	4	2242	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	637					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGCAAGACTCTCACGTAGGA	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		22053	0		0	False		,,,				2504	0																0								C	CYS/SER	6,3988		0,6,1991	66	64	65		1910	-0.6	0	6		65	0,8354		0,0,4177	no	missense	HIVEP1	NM_002114.2	112	0,6,6168	GG,GC,CC		0.0,0.1502,0.0486	probably-damaging	637/2719	12121938	6,12342	1997	4177	6174	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1910C>G	6.37:g.12121938C>G	ENSP00000368698:p.Ser637Cys		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S637C	ENST00000379388.2	37	c.1910	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111779	0.37242	0.001502	0.0	ENSG00000095951	ENST00000379388	T	0.44482	0.92	5.92	-0.606	0.11619	.	0.735517	0.11228	N	0.585980	T	0.21186	0.0510	M	0.62723	1.935	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.41270	-0.9518	9	.	.	.	-0.6128	15.7775	0.78236	0.0:0.3149:0.6253:0.0598	.	637	P15822	ZEP1_HUMAN	C	637	ENSP00000368698:S637C	.	S	+	2	0	HIVEP1	12229924	0.004000	0.15560	0.000000	0.03702	0.185000	0.23345	1.707000	0.37888	-0.142000	0.11354	-0.176000	0.13171	TCT	HIVEP1	-	NULL		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	C	NM_002114		12121938	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.000	G	G	12121938	C	G	12121938	3	3	13	1	0	0	0	0	1	0	0	0	7206	913	32	1	1920	1	HIVEP1	6	12121938	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1179193	12121938	158993129	294	1738										
HIST1H3B	8358	genome.wustl.edu	37	chr6	26032045	26032045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agagctctggaagcgaagatCggtcttgaagtcttgggcga	15	7	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:26032045C>T	ENST00000244661.2	-	1	243	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGCGAAGATCGGTCTTGAAG	0.582																																																	0													74	77	76					6																	26032045		2203	4300	6503	SO:0001583	missense	8358			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.244G>A	6.37:g.26032045C>T	ENSP00000244661:p.Asp82Asn		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.D82N	ENST00000244661.2	37	c.244	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	17.72	3.460060	0.63401	.	.	ENSG00000124693	ENST00000244661	T	0.47869	0.83	5.24	5.24	0.73138	.	.	.	.	.	T	0.61135	0.2323	.	.	.	0.46981	D	0.999276	.	.	.	.	.	.	T	0.65598	-0.6129	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000244661:D82N	ENSP00000244661:D82N	D	-	1	0	HIST1H3B	26140024	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAT	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.582	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	C	NM_003537		26032045	-1	no_errors	ENST00000244661	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26032045	C	T	26032045	3	4	13	1	0	0	0	0	1	0	0	0	7176	884	31	1	170	1	HIST1H3B	6	26032045	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	13910107	26032045	145083022	295	1739										
ZSCAN12	9753	genome.wustl.edu	37	chr6	28359508	28359508	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccatactcatttccagtctCaacatctaaaactaagaagg	4	12	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:28359508C>G	ENST00000361028.1	-	4	704	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E187Q			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						TTTCCAGTCTCAACATCTAAA	0.308																																																	0													10	7	8					6																	28359508		686	1554	2240	SO:0001583	missense	9753			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.559G>C	6.37:g.28359508C>G	ENSP00000354305:p.Glu187Gln		O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E187Q	ENST00000361028.1	37	c.559		6	.	.	.	.	.	.	.	.	.	.	C	1.051	-0.675914	0.03378	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07114	3.22;3.22	3.44	2.56	0.30785	.	0.238222	0.21860	N	0.068058	T	0.00784	0.0026	N	0.03608	-0.345	0.25768	N	0.984869	B;B	0.33694	0.421;0.421	B;B	0.25291	0.041;0.059	T	0.44937	-0.9295	10	0.15952	T	0.53	.	5.7095	0.17927	0.0:0.7496:0.0:0.2504	.	187;187	A8K187;O43309	.;ZSC12_HUMAN	Q	187	ENSP00000354305:E187Q;ENSP00000380039:E187Q	ENSP00000354305:E187Q	E	-	1	0	ZSCAN12	28467487	0.014000	0.17966	0.952000	0.39060	0.351000	0.29236	-0.112000	0.10791	0.769000	0.33313	0.650000	0.86243	GAG	ZSCAN12	-	NULL		0.308	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	C	NM_014724		28359508	-1	no_errors	ENST00000361028	ensembl	human	known	70_37	missense	SNP	0.858	G	G	28359508	C	G	28359508	3	3	13	1	0	0	0	0	1	0	0	0	18258	835	29	1	1280	1	ZSCAN12	6	28359508	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2327463	28359508	142755559	296	1740										
GABBR1	2550	genome.wustl.edu	37	chr6	29591239	29591239	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgacagggctggtgagctgGagccataggaaagctgtggg	18	6	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:29591239G>C	ENST00000377034.4	-	8	1141	c.806C>G	c.(805-807)tCc>tGc	p.S269C	GABBR1_ENST00000377012.4_Missense_Mutation_p.S152C|GABBR1_ENST00000377016.4_Missense_Mutation_p.S207C|GABBR1_ENST00000376977.3_Missense_Mutation_p.S269C|GABBR1_ENST00000355973.3_Missense_Mutation_p.S152C	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	269					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGGTGAGCTGGAGCCATAGGA	0.562																																																	0													95	69	78					6																	29591239		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.806C>G	6.37:g.29591239G>C	ENSP00000366233:p.Ser269Cys		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.S269C	ENST00000377034.4	37	c.806	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	-	22.1	4.246484	0.80024	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	4.89	4.89	0.63831	Extracellular ligand-binding receptor (1);	0.122077	0.53938	D	0.000050	D	0.88847	0.6548	M	0.65498	2.005	0.58432	D	0.999995	D;D;D;D	0.76494	0.998;0.997;0.999;0.999	D;P;D;D	0.68621	0.959;0.9;0.951;0.934	D	0.90109	0.4190	10	0.72032	D	0.01	-25.9804	13.593	0.61971	0.0:0.0:1.0:0.0	.	269;207;269;152	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	C	152;269;207;152;269	ENSP00000348248:S152C;ENSP00000366176:S269C;ENSP00000366215:S207C;ENSP00000366211:S152C;ENSP00000366233:S269C	ENSP00000348248:S152C	S	-	2	0	GABBR1	29699218	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.154000	0.94694	2.288000	0.76882	0.466000	0.42574	TCC	GABBR1	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B		0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29591239	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29591239	G	C	29591239	3	2	13	1	0	0	0	0	1	0	0	0	6173	1174	41	1	2143	1	GABBR1	6	29591239	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1231731	29591239	141523828	297	1741										
HLA-A	3105	genome.wustl.edu	37	chr6	29910797	29910797	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcggctactacaaccagagcGaggccggtgagtgaccccgg	15	13	0	3	rs41559912		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:29910797G>T	ENST00000396634.1	+	4	678	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	113	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAACCAGAGCGAGGCCGGTGA	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													40	43	42					6																	29910797		2200	4292	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.337G>T	6.37:g.29910797G>T	ENSP00000379873:p.Glu113*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E113*	ENST00000396634.1	37	c.337	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.433768	0.96150	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.375	0.32438	0.0:0.2432:0.7568:0.0	.	.	.	.	X	113	.	ENSP00000348012:E113X	E	+	1	0	HLA-A	30018776	0.032000	0.19561	0.853000	0.33588	0.049000	0.14656	0.398000	0.20899	2.030000	0.59900	0.478000	0.44815	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910797	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.722	T	T	29910797	G	T	29910797	4	4	13	1	0	0	0	0	0	1	0	0	7215	1059	37	3	343	3	HLA-A	6	29910797	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	319558	29910797	141204270	298	1742										
MRPS18B	28973	genome.wustl.edu	37	chr6	30587278	30587278	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctcctttgtaggttcccctCcagactctttgcaccaaagc	6	15	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:30587278C>G	ENST00000259873.4	+	2	244	c.87C>G	c.(85-87)ctC>ctG	p.L29L	PPP1R10_ENST00000376511.2_5'Flank|MRPS18B_ENST00000506373.2_Silent_p.L29L|PPP1R10_ENST00000484449.1_5'Flank|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	29					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						AGGTTCCCCTCCAGACTCTTT	0.403																																																	0													73	89	84					6																	30587278		1507	2707	4214	SO:0001819	synonymous_variant	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.87C>G	6.37:g.30587278C>G			A6NDQ0|Q659G4|Q9BS27	Silent	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.L29	ENST00000259873.4	37	c.87	CCDS4682.1	6																																																																																			MRPS18B	-	NULL		0.403	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	C			30587278	1	no_errors	ENST00000259873	ensembl	human	known	70_37	silent	SNP	0.989	G	G	30587278	C	G	30587278	2	3	13	1	0	0	0	0	0	0	0	1	9852	842	30	1		1	MRPS18B	6	30587278	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	676481	30587278	140527789	299	1743										
C6orf27	80737	genome.wustl.edu	37	chr6	31734272	31734272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agggactacagtgctaggctGaggggcagccctgtgcaggc	17	10	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:31734272G>A	ENST00000375688.4	-	14	2352	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	VWA7_ENST00000375686.3_Nonsense_Mutation_p.Q718*|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	718						extracellular region (GO:0005576)											GTGCTAGGCTGAGGGGCAGCC	0.667																																																	0													18	15	16					6																	31734272		1505	2708	4213	SO:0001587	stop_gained	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2152C>T	6.37:g.31734272G>A	ENSP00000364840:p.Gln718*		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	NULL	p.Q718*	ENST00000375688.4	37	c.2152	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	41	8.801474	0.98958	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	.	.	.	5.11	5.11	0.69529	.	0.224065	0.37857	N	0.001909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-20.1342	13.9127	0.63878	0.0:0.0:1.0:0.0	.	.	.	.	X	718	.	ENSP00000364838:Q718X	Q	-	1	0	C6orf27	31842251	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.139000	0.50577	2.654000	0.90174	0.563000	0.77884	CAG	VWA7	-	NULL		0.667	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	G	NM_025258		31734272	-1	no_errors	ENST00000375686	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31734272	G	A	31734272	4	1	13	1	0	0	0	0	0	1	0	0	2367	1299	45	1	538	1	C6orf27	6	31734272	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1146994	31734272	139380795	300	1744										
MAPK14	1432	genome.wustl.edu	37	chr6	36041852	36041852	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaacctagtaatctagctgtGaatgaagactgtgagctgaa	10	6	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:36041852G>A	ENST00000229794.4	+	6	862	c.474G>A	c.(472-474)gtG>gtA	p.V158V	MAPK14_ENST00000468133.1_Silent_p.V81V|MAPK14_ENST00000229795.3_Silent_p.V158V|MAPK14_ENST00000310795.4_Silent_p.V158V	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ATCTAGCTGTGAATGAAGACT	0.383																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)												0													138	125	130					6																	36041852		2203	4300	6503	SO:0001819	synonymous_variant	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.474G>A	6.37:g.36041852G>A			A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38	p.V158	ENST00000229794.4	37	c.474	CCDS4816.1	6																																																																																			MAPK14	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.383	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK14	HGNC	protein_coding	OTTHUMT00000357450.1	G	NM_001315		36041852	1	no_errors	ENST00000229794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36041852	G	A	36041852	2	1	13	1	0	0	0	0	0	0	0	1	9299	1277	45	1		1	MAPK14	6	36041852	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4307580	36041852	135073215	301	1745										
KCNK5	8645	genome.wustl.edu	37	chr6	39158927	39158927	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgctggcgtcctggaagatGagtgggtggtagtcctgggc	18	7	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:39158927G>A	ENST00000359534.3	-	5	1577	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	413					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCTGGAAGATGAGTGGGTGGT	0.622																																																	0													82	75	78					6																	39158927		2203	4300	6503	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1239C>T	6.37:g.39158927G>A			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.L413	ENST00000359534.3	37	c.1239	CCDS4841.1	6																																																																																			KCNK5	-	NULL		0.622	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	G	NM_003740		39158927	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	silent	SNP	0.993	A	A	39158927	G	A	39158927	2	1	13	1	0	0	0	0	0	0	0	1	8089	1277	45	1		1	KCNK5	6	39158927	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3117075	39158927	131956140	302	1746										
DAAM2	23500	genome.wustl.edu	37	chr6	39835482	39835482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtaccatagcccagagcctaCgcacagagaacagcaagacc	9	14	0	3	rs375083979	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:39835482C>T	ENST00000398904.2	+	6	807	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R209C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R209C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	209	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R209S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGAGCCTACGCACAGAGAA	0.582																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											54	58	57					6																	39835482		2182	4279	6461	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.625C>T	6.37:g.39835482C>T	ENSP00000381876:p.Arg209Cys		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R209C	ENST00000398904.2	37	c.625	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871146	0.72065	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86865	-2.18;-2.18;-2.18	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.059530	0.64402	D	0.000003	D	0.86707	0.5997	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60886	0.809;0.88	D	0.87809	0.2630	10	0.59425	D	0.04	.	10.8501	0.46765	0.1444:0.7159:0.1397:0.0	.	209;209	G5EA45;Q86T65	.;DAAM2_HUMAN	C	209	ENSP00000274867:R209C;ENSP00000381876:R209C;ENSP00000437808:R209C	ENSP00000274867:R209C	R	+	1	0	DAAM2	39943460	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.093000	0.30939	2.587000	0.87381	0.561000	0.74099	CGC	DAAM2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	C			39835482	1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39835482	C	T	39835482	3	4	13	1	0	0	0	0	1	0	0	0	4221	536	19	2	643	2	DAAM2	6	39835482	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	676555	39835482	131279585	303	1747										
NCR2	9436	genome.wustl.edu	37	chr6	41318523	41318523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccctggacctcagtttcctCacctgtagagagagaaatat	8	11	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:41318523C>T	ENST00000373089.5	+	5	840	c.752C>T	c.(751-753)tCa>tTa	p.S251L	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	251					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					tcagtttcctcacctgtagag	0.428																																																	0													86	77	80					6																	41318523		2203	4300	6503	SO:0001583	missense	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.752C>T	6.37:g.41318523C>T	ENSP00000362181:p.Ser251Leu		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S251L	ENST00000373089.5	37	c.752	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	C	9.540	1.113003	0.20795	.	.	ENSG00000096264	ENST00000373089	T	0.15952	2.38	2.47	0.583	0.17417	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.14023	0.01	T	0.43523	-0.9386	9	0.51188	T	0.08	.	3.6219	0.08099	0.0:0.5806:0.2632:0.1561	.	251	O95944	NCTR2_HUMAN	L	251	ENSP00000362181:S251L	ENSP00000362181:S251L	S	+	2	0	NCR2	41426501	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.259000	0.18405	0.131000	0.18576	-0.140000	0.14226	TCA	NCR2	-	NULL		0.428	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	C			41318523	1	no_errors	ENST00000373089	ensembl	human	known	70_37	missense	SNP	0.001	T	T	41318523	C	T	41318523	3	4	13	1	0	0	0	0	1	0	0	0	10262	838	29	1	770	1	NCR2	6	41318523	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1483041	41318523	129796544	304	1748										
GTPBP2	54676	genome.wustl.edu	37	chr6	43596854	43596854	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcccacggccgggccccctcCgggccggcagcagccgccga	15	21	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:43596854C>A	ENST00000307126.5	-	1	45	c.46G>T	c.(46-48)Gga>Tga	p.G16*	GTPBP2_ENST00000476510.1_5'Flank|MAD2L1BP_ENST00000451025.2_5'Flank|GTPBP2_ENST00000307114.7_5'Flank	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGGCCCCCTCCGGGCCGGCAG	0.761																																					GBM(116;405 1620 28302 32150 44768)												0													6	8	8					6																	43596854		1980	3892	5872	SO:0001587	stop_gained	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.46G>T	6.37:g.43596854C>A	ENSP00000303997:p.Gly16*			Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.G16*	ENST00000307126.5	37	c.46	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990936	0.93106	.	.	ENSG00000172432	ENST00000307126;ENST00000452781	.	.	.	3.93	3.93	0.45458	.	0.528179	0.18125	N	0.150922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-1.6723	16.5119	0.84288	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000303997:G16X	G	-	1	0	GTPBP2	43704832	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.334000	0.43920	2.201000	0.70794	0.455000	0.32223	GGA	GTPBP2	-	NULL		0.761	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	C			43596854	-1	no_errors	ENST00000307126	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	43596854	C	A	43596854	4	1	13	1	0	0	0	0	0	1	0	0	6900	661	23	2	1810	2	GTPBP2	6	43596854	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2278331	43596854	127518213	305	1749										
TMEM63B	55362	genome.wustl.edu	37	chr6	44107469	44107469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caatgcctacagctttgggaGaaccaccattgccaacttga	8	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:44107469G>C	ENST00000259746.9	+	8	758	c.575G>C	c.(574-576)aGa>aCa	p.R192T	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.R192T			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	192					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGCTTTGGGAGAACCACCATT	0.582																																																	0													154	127	136					6																	44107469		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.575G>C	6.37:g.44107469G>C	ENSP00000259746:p.Arg192Thr		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.R192T	ENST00000259746.9	37	c.575	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.551835|3.551835	0.65311|0.65311	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000532634;ENST00000323267	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.86864|0.86864	2.845|2.845	0.54753|0.54753	D|D	0.999985|0.999985	.|B;P;P	.|0.48503	.|0.108;0.911;0.493	.|B;P;B	.|0.54965	.|0.172;0.765;0.234	T|T	0.66444|0.66444	-0.5922|-0.5922	5|10	.|0.87932	.|D	.|0	.|.	15.3698|15.3698	0.74554|0.74554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192;192;192	.|Q5T3F8-3;Q5T3F8;Q5T3F8-2	.|.;TM63B_HUMAN;.	Q|T	121|192	.|ENSP00000259746:R192T;ENSP00000437163:R192T;ENSP00000327154:R192T	.|ENSP00000259746:R192T	E|R	+|+	1|2	0|0	TMEM63B|TMEM63B	44215447|44215447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.229000|9.229000	0.95273|0.95273	2.207000|2.207000	0.71202|0.71202	0.462000|0.462000	0.41574|0.41574	GAA|AGA	TMEM63B	-	NULL		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	G	XM_166410		44107469	1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44107469	G	C	44107469	3	2	13	1	0	0	0	0	1	0	0	0	16221	942	33	1	601	1	TMEM63B	6	44107469	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	510615	44107469	127007598	306	1750										
SLC35B2	347734	genome.wustl.edu	37	chr6	44222490	44222490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggcacagccttctttccccGttgctttagacggccccgcg	10	16	1	1	rs138499828		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:44222490G>A	ENST00000393812.3	-	4	1395	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.R285W|SLC35B2_ENST00000538577.1_Missense_Mutation_p.R325W|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	418					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTTTCCCCGTTGCTTTAGA	0.597													g|||	1	0.000199681	0	0	5008	,	,		18213	0		0.001	False		,,,				2504	0																0								G	TRP/ARG	0,4406		0,0,2203	101	104	103		1252	1.5	0.5	6	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC35B2	NM_178148.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	418/433	44222490	2,13004	2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1252C>T	6.37:g.44222490G>A	ENSP00000377401:p.Arg418Trp		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.R418W	ENST00000393812.3	37	c.1252	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	g	11.17	1.560877	0.27827	0.0	2.33E-4	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.33654	1.42;1.41;1.4	4.58	1.55	0.23275	.	0.391107	0.24710	N	0.036232	T	0.26666	0.0652	L	0.36672	1.1	0.19575	N	0.999961	D;D	0.69078	0.996;0.997	P;P	0.56648	0.802;0.803	T	0.21999	-1.0229	10	0.72032	D	0.01	-32.1771	13.7384	0.62833	0.0:0.0:0.3331:0.6669	.	325;418	F5H7Y9;Q8TB61	.;S35B2_HUMAN	W	418;285;325;378	ENSP00000377401:R418W;ENSP00000440340:R285W;ENSP00000443845:R325W	ENSP00000342455:R378W	R	-	1	2	SLC35B2	44330468	0.001000	0.12720	0.519000	0.27824	0.105000	0.19272	0.253000	0.18296	0.100000	0.17581	0.546000	0.68486	CGG	SLC35B2	-	NULL		0.597	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	G			44222490	-1	no_errors	ENST00000393812	ensembl	human	known	70_37	missense	SNP	0.135	A	A	44222490	G	A	44222490	3	1	13	1	0	0	0	0	1	0	0	0	14606	1144	40	2	50	2	SLC35B2	6	44222490	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	115021	44222490	126892577	307	1751										
CLIC5	53405	genome.wustl.edu	37	chr6	46047623	46047623	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcctggagttctgctgcgcaGagttgctggtcctgggttga	15	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:46047623G>A	ENST00000185206.6	-	1	509	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	119					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTGCTGCGCAGAGTTGCTGGT	0.517																																																	0													62	58	59					6																	46047623		692	1591	2283	SO:0001819	synonymous_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.357C>T	6.37:g.46047623G>A			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.L119	ENST00000185206.6	37	c.357	CCDS47438.1	6																																																																																			CLIC5	-	NULL		0.517	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	G			46047623	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46047623	G	A	46047623	2	1	13	1	0	0	0	0	0	0	0	1	3534	929	33	1		1	CLIC5	6	46047623	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1825133	46047623	125067444	308	1752										
TDRD6	221400	genome.wustl.edu	37	chr6	46660917	46660917	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctttagcaattgttgacttGaaaagcaaaggtaaaagtat	8	5	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:46660917G>A	ENST00000316081.6	+	1	5052	c.5052G>A	c.(5050-5052)ttG>ttA	p.L1684L	TDRD6_ENST00000544460.1_Silent_p.L1684L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1684					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGTTGACTTGAAAAGCAAAG	0.303																																																	0													37	40	39					6																	46660917		2203	4295	6498	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5052G>A	6.37:g.46660917G>A			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L1684	ENST00000316081.6	37	c.5052	CCDS34470.1	6																																																																																			TDRD6	-	NULL		0.303	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46660917	1	no_errors	ENST00000316081	ensembl	human	known	70_37	silent	SNP	0.716	A	A	46660917	G	A	46660917	2	1	13	1	0	0	0	0	0	0	0	1	15764	1281	45	1		1	TDRD6	6	46660917	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	613294	46660917	124454150	309	1753										
PGK2	5232	genome.wustl.edu	37	chr6	49754286	49754286	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtatagccagaaagggtctCactgggttttccaaggcttt	11	8	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:49754286C>T	ENST00000304801.3	-	1	767	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	205					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GAAAGGGTCTCACTGGGTTTT	0.433																																																	0													109	108	108					6																	49754286		2203	4300	6503	SO:0001819	synonymous_variant	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.615G>A	6.37:g.49754286C>T			B2R6Y8|Q9H107	Silent	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.V205	ENST00000304801.3	37	c.615	CCDS4930.1	6																																																																																			PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase		0.433	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	C			49754286	-1	no_errors	ENST00000304801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49754286	C	T	49754286	2	4	13	1	0	0	0	0	0	0	0	1	11815	813	29	1		1	PGK2	6	49754286	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3093369	49754286	121360781	310	1754										
PKHD1	5314	genome.wustl.edu	37	chr6	51712645	51712645	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttctgacctggtgatggaaGaaatggaaaagacagaccca	12	7	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51712645G>C	ENST00000371117.3	-	50	8310	c.8035C>G	c.(8035-8037)Ctt>Gtt	p.L2679V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2679V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2679					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L2679I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTGATGGAAGAAATGGAAAA	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											149	135	140					6																	51712645		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8035C>G	6.37:g.51712645G>C	ENSP00000360158:p.Leu2679Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2679V	ENST00000371117.3	37	c.8035	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	4.323	0.059255	0.08339	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.47	4.58	0.56647	.	0.567197	0.16951	N	0.192881	T	0.69949	0.3168	L	0.50333	1.59	0.09310	N	1	B;B;B	0.26195	0.11;0.023;0.144	B;B;B	0.22601	0.03;0.04;0.022	T	0.55451	-0.8139	10	0.12103	T	0.63	.	11.3979	0.49854	0.0738:0.1292:0.797:0.0	.	2679;2679;2679	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2679	ENSP00000360158:L2679V;ENSP00000341097:L2679V	ENSP00000341097:L2679V	L	-	1	0	PKHD1	51820604	0.397000	0.25270	0.361000	0.25849	0.121000	0.20230	2.197000	0.42696	2.720000	0.93068	0.650000	0.86243	CTT	PKHD1	-	NULL		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51712645	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.042	C	C	51712645	G	C	51712645	3	2	13	1	0	0	0	0	1	0	0	0	11995	942	33	1	4300	1	PKHD1	6	51712645	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1958359	51712645	119402422	311	1755										
PKHD1	5314	genome.wustl.edu	37	chr6	51735351	51735351	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctaatggccacacagttgatGagatcaaaattaacaaaggt	8	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51735351G>A	ENST00000371117.3	-	47	7712	c.7437C>T	c.(7435-7437)ctC>ctT	p.L2479L	PKHD1_ENST00000340994.4_Silent_p.L2479L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2479					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAGTTGATGAGATCAAAAT	0.373																																																	0													148	139	142					6																	51735351		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7437C>T	6.37:g.51735351G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2479	ENST00000371117.3	37	c.7437	CCDS4935.1	6																																																																																			PKHD1	-	smart_PbH1		0.373	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51735351	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.000	A	A	51735351	G	A	51735351	2	1	13	1	0	0	0	0	0	0	0	1	11995	1277	45	1		1	PKHD1	6	51735351	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	22706	51735351	119379716	312	1756										
PKHD1	5314	genome.wustl.edu	37	chr6	51751999	51751999	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtgatgtttggttggtcatGagatggaaaaagtagccata	13	3	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51751999G>C	ENST00000371117.3	-	44	7316	c.7041C>G	c.(7039-7041)ctC>ctG	p.L2347L	PKHD1_ENST00000340994.4_Silent_p.L2347L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2347					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTTGGTCATGAGATGGAAAA	0.413																																																	0													127	113	118					6																	51751999		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7041C>G	6.37:g.51751999G>C			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2347	ENST00000371117.3	37	c.7041	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51751999	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.989	C	C	51751999	G	C	51751999	2	2	13	1	0	0	0	0	0	0	0	1	11995	1277	45	1		1	PKHD1	6	51751999	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	16648	51751999	119363068	313	1757										
PKHD1	5314	genome.wustl.edu	37	chr6	51907736	51907736	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggtcttctccagtggcactGatggcaagaccagagggtct	13	10	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51907736G>T	ENST00000371117.3	-	27	3293	c.3018C>A	c.(3016-3018)atC>atA	p.I1006I	PKHD1_ENST00000340994.4_Silent_p.I1006I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1006	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGTGGCACTGATGGCAAGAC	0.478																																																	0													111	107	108					6																	51907736		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3018C>A	6.37:g.51907736G>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.I1006	ENST00000371117.3	37	c.3018	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Ig_E-set		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51907736	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.027	T	T	51907736	G	T	51907736	2	4	13	1	0	0	0	0	0	0	0	1	11995	1280	45	3		3	PKHD1	6	51907736	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	155737	51907736	119207331	314	1758										
DST	667	genome.wustl.edu	37	chr6	56443711	56443711	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttctctacagcaacctgctGacttgatatctgtccttgca	6	12	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:56443711G>A	ENST00000361203.3	-	46	12302	c.12295C>T	c.(12295-12297)Cag>Tag	p.Q4099*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q1687*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q3775*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2013*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q4099*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2013*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4101*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q4279*			Q03001	DYST_HUMAN	dystonin	4099					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAACCTGCTGACTTGATATC	0.383																																																	0													68	68	68					6																	56443711		1827	4082	5909	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12295C>T	6.37:g.56443711G>A	ENSP00000354508:p.Gln4099*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q4279*	ENST00000361203.3	37	c.12835		6	.	.	.	.	.	.	.	.	.	.	G	53	20.680448	0.99933	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.46	4.59	0.56863	.	0.150369	0.30492	N	0.009510	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.6237	0.68605	0.0714:0.0:0.9286:0.0	.	.	.	.	X	1687;4279;4101;2013;3775;4099;2013;4099	.	ENSP00000244364:Q1687X	Q	-	1	0	DST	56551670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.083000	0.71326	2.559000	0.86315	0.655000	0.94253	CAG	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56443711	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	56443711	G	A	56443711	4	1	13	1	0	0	0	0	0	1	0	0	4793	1299	45	1	10672	1	DST	6	56443711	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4535975	56443711	114671356	315	1759										
FILIP1	27145	genome.wustl.edu	37	chr6	76023430	76023430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccaaccgaaatctgtgtctCagttcagcttcctggctcac	7	14	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:76023430C>T	ENST00000237172.7	-	5	2448	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	FILIP1_ENST00000393004.2_Silent_p.L706L|FILIP1_ENST00000370020.1_Silent_p.L607L|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	706										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ATCTGTGTCTCAGTTCAGCTT	0.413																																																	0													184	188	187					6																	76023430		2203	4300	6503	SO:0001819	synonymous_variant	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2118G>A	6.37:g.76023430C>T			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.L706	ENST00000237172.7	37	c.2118	CCDS4984.1	6																																																																																			FILIP1	-	NULL		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	C	XM_029179		76023430	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76023430	C	T	76023430	2	4	13	1	0	0	0	0	0	0	0	1	5912	813	29	1		1	FILIP1	6	76023430	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	19579719	76023430	95091637	316	1760										
SNAP91	9892	genome.wustl.edu	37	chr6	84269883	84269883	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcatgggctgtgcaaacatGaccggctgctgaggcatcat	12	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:84269883G>A	ENST00000439399.2	-	28	2887	c.2571C>T	c.(2569-2571)gtC>gtT	p.V857V	SNAP91_ENST00000520302.1_Silent_p.V827V|SNAP91_ENST00000521485.1_Silent_p.V852V|SNAP91_ENST00000521743.1_Silent_p.V857V|SNAP91_ENST00000369694.2_Silent_p.V857V|SNAP91_ENST00000428679.2_Silent_p.V857V|SNAP91_ENST00000520213.1_Silent_p.V550V|SNAP91_ENST00000437520.1_Silent_p.V550V|SNAP91_ENST00000195649.6_Silent_p.V852V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	857	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTGCAAACATGACCGGCTGCT	0.547																																																	0													70	72	71					6																	84269883		1979	4161	6140	SO:0001819	synonymous_variant	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2571C>T	6.37:g.84269883G>A			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.V857	ENST00000439399.2	37	c.2571	CCDS47455.1	6																																																																																			SNAP91	-	NULL		0.547	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	G			84269883	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	silent	SNP	0.996	A	A	84269883	G	A	84269883	2	1	13	1	0	0	0	0	0	0	0	1	14863	1277	45	1		1	SNAP91	6	84269883	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8246453	84269883	86845184	317	1761										
TBX18	9096	genome.wustl.edu	37	chr6	85446793	85446793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagctggtctgtgggcagctGaaggtgtccccatcagtgcc	14	11	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:85446793G>A	ENST00000369663.5	-	8	1771	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	478					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGGGCAGCTGAAGGTGTCCC	0.587																																																	0													130	128	129					6																	85446793		2203	4300	6503	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1434C>T	6.37:g.85446793G>A			A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F478	ENST00000369663.5	37	c.1434	CCDS34495.1	6																																																																																			TBX18	-	NULL		0.587	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85446793	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	silent	SNP	1.000	A	A	85446793	G	A	85446793	2	1	13	1	0	0	0	0	0	0	0	1	15683	1281	45	1		1	TBX18	6	85446793	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1176910	85446793	85668274	318	1762										
TBX18	9096	genome.wustl.edu	37	chr6	85447111	85447111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagtaccttggagcaaggtGgaggaacttgcattgcctac	12	10	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:85447111G>A	ENST00000369663.5	-	8	1453	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	372					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGCAAGGTGGAGGAACTTG	0.478																																																	0													59	62	61					6																	85447111		2203	4300	6503	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1116C>T	6.37:g.85447111G>A			A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S372	ENST00000369663.5	37	c.1116	CCDS34495.1	6																																																																																			TBX18	-	NULL		0.478	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85447111	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	silent	SNP	0.160	A	A	85447111	G	A	85447111	2	1	13	1	0	0	0	0	0	0	0	1	15683	1335	47	4		4	TBX18	6	85447111	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	318	85447111	85667956	319	1763										
ORC3L	23595	genome.wustl.edu	37	chr6	88367713	88367713	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtactcagagaaaatgttgtGaacttcattgactgtctagt	9	6	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:88367713G>C	ENST00000392844.3	+	16	1716	c.1668G>C	c.(1666-1668)gtG>gtC	p.V556V	ORC3_ENST00000546266.1_Silent_p.V413V|ORC3_ENST00000257789.4_Silent_p.V557V|ORC3_ENST00000417380.2_3'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	556					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AAAATGTTGTGAACTTCATTG	0.328																																																	0													78	78	78					6																	88367713		2203	4300	6503	SO:0001819	synonymous_variant	23595			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1668G>C	6.37:g.88367713G>C			A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	pfam_ORC3	p.V557	ENST00000392844.3	37	c.1671	CCDS43486.1	6																																																																																			ORC3	-	NULL		0.328	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	G			88367713	1	no_errors	ENST00000257789	ensembl	human	known	70_37	silent	SNP	0.999	C	C	88367713	G	C	88367713	2	2	13	1	0	0	0	0	0	0	0	1	11287	1277	45	1		1	ORC3L	6	88367713	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2920602	88367713	82747354	320	1764										
SFRS13B	135295	genome.wustl.edu	37	chr6	89808634	89808634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgatttggaacgagatttaGactggctataagaaaatcgc	10	5	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:89808634G>C	ENST00000452027.2	-	5	642	c.449C>G	c.(448-450)tCt>tGt	p.S150C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	150	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACGAGATTTAGACTGGCTATA	0.418																																																	0													159	152	154					6																	89808634		1861	4094	5955	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.449C>G	6.37:g.89808634G>C	ENSP00000414302:p.Ser150Cys		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S150C	ENST00000452027.2	37	c.449	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526537	0.64860	.	.	ENSG00000154548	ENST00000452027	T	0.10668	2.85	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	T	0.18593	0.0446	L	0.44542	1.39	0.42452	D	0.992755	D	0.76494	0.999	D	0.74674	0.984	T	0.00589	-1.1656	10	0.62326	D	0.03	.	17.3944	0.87441	0.0:0.0:1.0:0.0	.	150	Q8WXF0	SRS12_HUMAN	C	150	ENSP00000414302:S150C	ENSP00000414302:S150C	S	-	2	0	SRSF12	89865353	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.836000	0.55813	2.719000	0.93026	0.585000	0.79938	TCT	SRSF12	-	NULL		0.418	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	G	NM_080743		89808634	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89808634	G	C	89808634	3	2	13	1	0	0	0	0	1	0	0	0	14199	942	33	1	340	1	SFRS13B	6	89808634	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1440921	89808634	81306433	321	1765										
MDN1	23195	genome.wustl.edu	37	chr6	90422942	90422942	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaaaaggctctgtctaaactCagccctcgctgcaggtactg	10	12	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:90422942C>T	ENST00000369393.3	-	47	7258	c.7143G>A	c.(7141-7143)ctG>ctA	p.L2381L	MDN1_ENST00000428876.1_Silent_p.L2381L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2381					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCTAAACTCAGCCCTCGCT	0.413																																																	0													132	139	136					6																	90422942		2203	4300	6503	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7143G>A	6.37:g.90422942C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L2381	ENST00000369393.3	37	c.7143	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90422942	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	silent	SNP	0.990	T	T	90422942	C	T	90422942	2	4	13	1	0	0	0	0	0	0	0	1	9438	813	29	1		1	MDN1	6	90422942	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	614308	90422942	80692125	322	1766										
AKD1	221264	genome.wustl.edu	37	chr6	109940391	109940391	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtattttctactaatgtttCacgggctttatcaaaacgtg	8	7	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:109940391C>A	ENST00000424296.2	-	13	1379	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	AK9_ENST00000368948.2_Nonsense_Mutation_p.E435*|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	435					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ACTAATGTTTCACGGGCTTTA	0.403																																																	0													209	157	173					6																	109940391		692	1591	2283	SO:0001587	stop_gained	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1303G>T	6.37:g.109940391C>A	ENSP00000410186:p.Glu435*		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E435*	ENST00000424296.2	37	c.1303	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.251495	0.97412	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	.	.	.	4.93	3.13	0.36017	.	0.371785	0.27917	N	0.017326	.	.	.	.	.	.	0.48452	D	0.999659	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2232	6.2893	0.21051	0.0:0.7127:0.1889:0.0985	.	.	.	.	X	435	.	.	E	-	1	0	AKD1	110047084	0.819000	0.29175	0.847000	0.33407	0.439000	0.31926	1.292000	0.33342	1.421000	0.47157	0.650000	0.86243	GAA	AKD1	-	NULL		0.403	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109940391	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	nonsense	SNP	0.558	A	A	109940391	C	A	109940391	4	1	13	1	0	0	0	0	0	1	0	0	460	835	29	3	4548	3	AKD1	6	109940391	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	19517449	109940391	61174676	323	1767										
WASF1	8936	genome.wustl.edu	37	chr6	110424697	110424697	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctagtcagaagctcactcatCtgactaaatggcaaggcaga	9	10	4	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:110424697C>G	ENST00000392589.1	-	9	1613	c.777G>C	c.(775-777)caG>caC	p.Q259H	WASF1_ENST00000392588.1_Missense_Mutation_p.Q259H|WASF1_ENST00000359451.2_Missense_Mutation_p.Q259H|WASF1_ENST00000392586.1_Missense_Mutation_p.Q259H|WASF1_ENST00000392587.2_Missense_Mutation_p.Q259H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	259					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.Q259H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCTCACTCATCTGACTAAATG	0.428																																																	1	Substitution - Missense(1)	lung(1)											171	147	155					6																	110424697		2203	4300	6503	SO:0001583	missense	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.777G>C	6.37:g.110424697C>G	ENSP00000376368:p.Gln259His		E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.Q259H	ENST00000392589.1	37	c.777	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352044	0.41700	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.51	3.74	0.42951	.	0.105434	0.64402	D	0.000003	T	0.40862	0.1134	L	0.27053	0.805	0.49687	D	0.999819	D	0.61697	0.99	D	0.70487	0.969	T	0.38090	-0.9677	10	0.45353	T	0.12	.	12.0399	0.53446	0.0:0.8608:0.0:0.1392	.	259	Q92558	WASF1_HUMAN	H	259	ENSP00000376365:Q259H;ENSP00000376366:Q259H;ENSP00000376368:Q259H;ENSP00000376367:Q259H;ENSP00000352425:Q259H	ENSP00000352425:Q259H	Q	-	3	2	WASF1	110531390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.607000	0.54102	0.826000	0.34661	0.650000	0.86243	CAG	WASF1	-	NULL		0.428	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	C	NM_003931		110424697	-1	no_errors	ENST00000359451	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110424697	C	G	110424697	3	3	13	1	0	0	0	0	1	0	0	0	17283	912	32	1	914	1	WASF1	6	110424697	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	484306	110424697	60690370	324	1768										
TMEM200A	114801	genome.wustl.edu	37	chr6	130762478	130762478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgtgttattgatgagcccaGtatagataacatcactgaag	9	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:130762478G>A	ENST00000296978.3	+	3	1782	c.911G>A	c.(910-912)aGt>aAt	p.S304N	TMEM200A_ENST00000392429.1_Missense_Mutation_p.S304N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S304N	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	304						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GATGAGCCCAGTATAGATAAC	0.408																																																	0													126	122	123					6																	130762478		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.911G>A	6.37:g.130762478G>A	ENSP00000296978:p.Ser304Asn		Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.S304N	ENST00000296978.3	37	c.911	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	G	9.299	1.052581	0.19907	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.165132	0.64402	D	0.000017	T	0.19208	0.0461	N	0.08118	0	0.36429	D	0.864829	B	0.20671	0.047	B	0.19148	0.024	T	0.06373	-1.0830	9	0.37606	T	0.19	-14.83	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	304	Q86VY9	T200A_HUMAN	N	304	.	ENSP00000296978:S304N	S	+	2	0	TMEM200A	130804171	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.295000	0.72744	2.805000	0.96524	0.655000	0.94253	AGT	TMEM200A	-	NULL		0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	G	NM_052913		130762478	1	no_errors	ENST00000296978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130762478	G	A	130762478	3	1	13	1	0	0	0	0	1	0	0	0	16153	1029	36	4	913	4	TMEM200A	6	130762478	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	20337781	130762478	40352589	325	1769										
TBPL1	9519	genome.wustl.edu	37	chr6	134305765	134305765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctatcggataaaatctctaaGagctacattacagatttttt	5	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:134305765G>C	ENST00000237264.4	+	6	712	c.437G>C	c.(436-438)aGa>aCa	p.R146T	TBPL1_ENST00000367871.1_Missense_Mutation_p.R146T|TBPL1_ENST00000477527.1_Intron	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	146					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AAATCTCTAAGAGCTACATTA	0.323																																																	0													50	50	50					6																	134305765		2203	4298	6501	SO:0001583	missense	9519			AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.437G>C	6.37:g.134305765G>C	ENSP00000237264:p.Arg146Thr		A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.R146T	ENST00000237264.4	37	c.437	CCDS5168.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048956	0.75846	.	.	ENSG00000028839	ENST00000367871;ENST00000237264	.	.	.	5.83	5.83	0.93111	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.124522	0.64402	D	0.000001	T	0.63885	0.2549	M	0.70903	2.155	0.52099	D	0.999943	P	0.45634	0.863	P	0.46685	0.524	T	0.69273	-0.5188	9	0.87932	D	0	-20.4563	19.1704	0.93575	0.0:0.0:1.0:0.0	.	146	P62380	TBPL1_HUMAN	T	146	.	ENSP00000237264:R146T	R	+	2	0	TBPL1	134347458	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.065000	0.71176	2.771000	0.95319	0.650000	0.86243	AGA	TBPL1	-	pfam_TBP,prints_TBP		0.323	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL1	HGNC	protein_coding	OTTHUMT00000042294.2	G			134305765	1	no_errors	ENST00000237264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134305765	G	C	134305765	3	2	13	1	0	0	0	0	1	0	0	0	15675	942	33	1	455	1	TBPL1	6	134305765	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3543287	134305765	36809302	326	1770										
SLC2A12	154091	genome.wustl.edu	37	chr6	134349710	134349710	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	catttctcaggggcatgagtGagcttctgctatgggaagaa	13	7	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:134349710G>C	ENST00000275230.5	-	2	1408	c.1253C>G	c.(1252-1254)tCa>tGa	p.S418*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	418					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGGCATGAGTGAGCTTCTGCT	0.458																																					Melanoma(122;1663 1672 14489 35294 41228)												0													164	151	155					6																	134349710		2203	4300	6503	SO:0001587	stop_gained	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1253C>G	6.37:g.134349710G>C	ENSP00000275230:p.Ser418*		B3KV17|Q7Z6U3|Q96MR8	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.S418*	ENST00000275230.5	37	c.1253	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854813	0.91355	.	.	ENSG00000146411	ENST00000275230	.	.	.	5.03	3.21	0.36854	.	2.786790	0.00961	N	0.003104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0103	7.8634	0.29522	0.3227:0.0:0.6773:0.0	.	.	.	.	X	418	.	ENSP00000275230:S418X	S	-	2	0	SLC2A12	134391403	0.000000	0.05858	0.003000	0.11579	0.638000	0.38207	0.303000	0.19210	1.092000	0.41356	0.467000	0.42956	TCA	SLC2A12	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.458	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	G			134349710	-1	no_errors	ENST00000275230	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	134349710	G	C	134349710	4	2	13	1	0	0	0	0	0	1	0	0	14571	1294	45	1	616	1	SLC2A12	6	134349710	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	43945	134349710	36765357	327	1771										
SHPRH	257218	genome.wustl.edu	37	chr6	146264850	146264850	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaggatcatcatcatcatcaGaggtgtctgatggcaagtat	10	7	6	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:146264850G>A	ENST00000367505.2	-	9	1931	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	SHPRH_ENST00000275233.7_Missense_Mutation_p.S556F|SHPRH_ENST00000438092.2_Missense_Mutation_p.S556F|SHPRH_ENST00000367503.3_Missense_Mutation_p.S556F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	556					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCATCAGAGGTGTCTGA	0.358																																																	0													126	116	119					6																	146264850		1832	4094	5926	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1667C>T	6.37:g.146264850G>A	ENSP00000356475:p.Ser556Phe		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.S556F	ENST00000367505.2	37	c.1667	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071844	0.55646	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74947	-0.89;-0.89;-0.88;-0.89	5.53	4.65	0.58169	DEAD-like helicase (1);	1.640880	0.03206	N	0.175544	T	0.59838	0.2223	L	0.40543	1.245	0.32213	N	0.576258	B;B;P;P	0.41784	0.012;0.427;0.547;0.762	B;B;B;B	0.44224	0.007;0.305;0.444;0.223	T	0.44143	-0.9347	10	0.59425	D	0.04	-6.3774	8.5441	0.33410	0.083:0.0:0.7638:0.1532	.	445;556;556;445	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	F	556;556;556;556;445	ENSP00000356475:S556F;ENSP00000356473:S556F;ENSP00000412797:S556F;ENSP00000275233:S556F	ENSP00000275233:S556F	S	-	2	0	SHPRH	146306543	0.982000	0.34865	1.000000	0.80357	0.888000	0.51559	2.424000	0.44714	1.458000	0.47871	0.650000	0.86243	TCT	SHPRH	-	smart_Helicase_ATP-bd		0.358	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	G	NM_173082		146264850	-1	no_errors	ENST00000367503	ensembl	human	known	70_37	missense	SNP	0.997	A	A	146264850	G	A	146264850	3	1	13	1	0	0	0	0	1	0	0	0	14321	942	33	1	3516	1	SHPRH	6	146264850	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	11915140	146264850	24850217	328	1772										
STXBP5	134957	genome.wustl.edu	37	chr6	147525730	147525730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgccggctcgtcctcggcgtCgcagcagcaacagcagcagc	13	17	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:147525730C>T	ENST00000321680.6	+	1	62	c.62C>T	c.(61-63)tCg>tTg	p.S21L	STXBP5_ENST00000546097.1_Missense_Mutation_p.S21L|STXBP5_ENST00000367481.3_Missense_Mutation_p.S21L|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.S21L|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000179882.6_5'Flank	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	21					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCTCGGCGTCGCAGCAGCAA	0.662																																																	0													22	28	26					6																	147525730		2202	4294	6496	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.62C>T	6.37:g.147525730C>T	ENSP00000321826:p.Ser21Leu		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S21L	ENST00000321680.6	37	c.62	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666425	0.67814	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;D;T;T	0.86164	2.54;-2.08;2.53;2.65	3.89	3.89	0.44902	.	1.475540	0.04344	N	0.354507	T	0.75406	0.3845	L	0.47716	1.5	0.80722	D	1	P;P	0.44659	0.593;0.84	B;B	0.28385	0.043;0.089	T	0.71784	-0.4488	10	0.48119	T	0.1	.	15.8724	0.79132	0.0:1.0:0.0:0.0	.	21;21	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	L	21	ENSP00000356451:S21L;ENSP00000441479:S21L;ENSP00000321826:S21L;ENSP00000356450:S21L	ENSP00000321826:S21L	S	+	2	0	STXBP5	147567423	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.127000	0.50484	1.721000	0.51461	0.460000	0.39030	TCG	STXBP5	-	NULL		0.662	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	C			147525730	1	no_errors	ENST00000321680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	147525730	C	T	147525730	3	4	13	1	0	0	0	0	1	0	0	0	15386	893	31	1	64	1	STXBP5	6	147525730	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1260880	147525730	23589337	329	1773										
C6orf211	79624	genome.wustl.edu	37	chr6	151789521	151789521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgatctgtctctctcaggtgGagaaagtagttctcagaata	10	7	4	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:151789521G>A	ENST00000367294.3	+	5	861	c.602G>A	c.(601-603)gGa>gAa	p.G201E	C6orf211_ENST00000545879.1_Missense_Mutation_p.G82E	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	201										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CTCTCAGGTGGAGAAAGTAGT	0.353																																																	0													84	89	87					6																	151789521		2203	4299	6502	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.602G>A	6.37:g.151789521G>A	ENSP00000356263:p.Gly201Glu		Q96FC6|Q9UFY5	Missense_Mutation	SNP	pfam_DUF89,superfamily_DUF89	p.G201E	ENST00000367294.3	37	c.602	CCDS5233.1	6	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941726	0.53079	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.05996	3.36;3.36	5.69	4.81	0.61882	Domain of unknown function DUF89 (2);	0.097740	0.64402	D	0.000001	T	0.10121	0.0248	M	0.78049	2.395	0.80722	D	1	P	0.40834	0.73	P	0.49477	0.612	T	0.04128	-1.0975	10	0.27785	T	0.31	.	15.0557	0.71912	0.0693:0.0:0.9307:0.0	.	201	Q9H993	CF211_HUMAN	E	201;82	ENSP00000356263:G201E;ENSP00000444121:G82E	ENSP00000356263:G201E	G	+	2	0	C6orf211	151831214	1.000000	0.71417	0.225000	0.23894	0.052000	0.14988	7.614000	0.82996	2.676000	0.91093	0.561000	0.74099	GGA	C6orf211	-	pfam_DUF89,superfamily_DUF89		0.353	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf211	HGNC	protein_coding	OTTHUMT00000042724.1	G	NM_024573		151789521	1	no_errors	ENST00000367294	ensembl	human	known	70_37	missense	SNP	0.999	A	A	151789521	G	A	151789521	3	1	13	1	0	0	0	0	1	0	0	0	2359	1174	41	1	620	1	C6orf211	6	151789521	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4263791	151789521	19325546	330	1774										
SYNE1	23345	genome.wustl.edu	37	chr6	152470759	152470759	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgttctccttgggcaattatCtgctcaatcttattgtggtt	8	8	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:152470759C>T	ENST00000367255.5	-	136	25096	c.24495G>A	c.(24493-24495)caG>caA	p.Q8165Q	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.Q8094Q|SYNE1_ENST00000354674.4_Silent_p.Q320Q|SYNE1_ENST00000265368.4_Silent_p.Q8165Q|SYNE1_ENST00000341594.5_Silent_p.Q7777Q|SYNE1_ENST00000539504.1_Silent_p.Q320Q|SYNE1_ENST00000423061.1_Silent_p.Q8094Q|SYNE1_ENST00000356820.4_Silent_p.Q2689Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGCAATTATCTGCTCAATCT	0.448										HNSCC(10;0.0054)																																							0													108	106	106					6																	152470759		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24495G>A	6.37:g.152470759C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q8165	ENST00000367255.5	37	c.24495	CCDS5236.2	6																																																																																			SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152470759	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152470759	C	T	152470759	2	4	13	1	0	0	0	0	0	0	0	1	15475	912	32	1		1	SYNE1	6	152470759	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	681238	152470759	18644308	331	1775										
SYNE1	23345	genome.wustl.edu	37	chr6	152806072	152806072	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatgttcaatctgtttcctCttcatttcatattgaactct	3	9	6	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:152806072C>T	ENST00000367255.5	-	13	1684	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	SYNE1_ENST00000466159.2_Silent_p.K361K|SYNE1_ENST00000448038.1_Silent_p.K368K|SYNE1_ENST00000265368.4_Silent_p.K361K|SYNE1_ENST00000367248.3_Silent_p.K351K|SYNE1_ENST00000341594.5_Silent_p.K361K|SYNE1_ENST00000367253.4_Silent_p.K361K|SYNE1_ENST00000423061.1_Silent_p.K368K|SYNE1_ENST00000413186.2_Silent_p.K361K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	361					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTTTCCTCTTCATTTCAT	0.363										HNSCC(10;0.0054)																																							0													140	125	130					6																	152806072		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1083G>A	6.37:g.152806072C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K361	ENST00000367255.5	37	c.1083	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_ABC_transptrTM_dom_typ1		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152806072	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152806072	C	T	152806072	2	4	13	1	0	0	0	0	0	0	0	1	15475	912	32	1		1	SYNE1	6	152806072	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	335313	152806072	18308995	332	1776										
FNDC1	84624	genome.wustl.edu	37	chr6	159653912	159653912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttctgatggtgaaagccacGgtgacggcgatagggaagac	15	8	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:159653912G>A	ENST00000297267.9	+	11	2568	c.2368G>A	c.(2368-2370)Ggt>Agt	p.G790S	FNDC1_ENST00000340366.6_Missense_Mutation_p.G727S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	790					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAAAGCCACGGTGACGGCGA	0.637																																																	0													27	30	29					6																	159653912		2068	4187	6255	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2368G>A	6.37:g.159653912G>A	ENSP00000297267:p.Gly790Ser		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G790S	ENST00000297267.9	37	c.2368	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.754|6.754	0.507905|0.507905	0.12883|0.12883	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06687|.	3.27;4.1|.	2.13|2.13	-4.26|-4.26	0.03755|0.03755	.|.	1.033160|.	0.07638|.	N|.	0.929882|.	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.003|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|5	0.06494|.	T|.	0.89|.	0.0021|0.0021	8.0936|8.0936	0.30816|0.30816	0.597:0.0:0.403:0.0|0.597:0.0:0.403:0.0	.|.	727;790|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	S|Q	790;727|685	ENSP00000297267:G790S;ENSP00000342460:G727S|.	ENSP00000297267:G790S|.	G|R	+|+	1|2	0|0	FNDC1|FNDC1	159573902|159573902	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.121000|0.121000	0.15667|0.15667	-1.694000|-1.694000	0.01425|0.01425	-1.578000|-1.578000	0.00866|0.00866	GGT|CGG	FNDC1	-	NULL		0.637	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	G	NM_032532		159653912	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.000	A	A	159653912	G	A	159653912	3	1	13	1	0	0	0	0	1	0	0	0	5986	1116	39	2	2410	2	FNDC1	6	159653912	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6847840	159653912	11461155	333	1777										
INTS1	26173	genome.wustl.edu	37	chr7	1519192	1519192	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcctgcaggacacgcaccgtGatgcccggcacctcggggct	14	16	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:1519192G>A	ENST00000404767.3	-	31	4288	c.4203C>T	c.(4201-4203)atC>atT	p.I1401I	INTS1_ENST00000389470.4_Silent_p.I1600I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1401					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACGCACCGTGATGCCCGGCA	0.741																																																	0													7	11	10					7																	1519192		2010	4116	6126	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4203C>T	7.37:g.1519192G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.I1600	ENST00000404767.3	37	c.4800	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.741	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1519192	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1519192	G	A	1519192	2	1	13	1	0	0	0	0	0	0	0	1	7795	1280	45	1		1	INTS1	7	1519192	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		1519192	157619471	334	1778										
AIMP2	7965	genome.wustl.edu	37	chr7	6054795	6054795	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaagagtctaacctgtctCtgcaagctcttgagtcccgc	10	12	3	2	rs368275022		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:6054795C>G	ENST00000223029.3	+	2	273	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_5'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	52					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAACCTGTCTCTGCAAGCTCT	0.418																																																	0													181	180	180					7																	6054795		2203	4300	6503	SO:0001583	missense	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.154C>G	7.37:g.6054795C>G	ENSP00000223029:p.Leu52Val		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.L52V	ENST00000223029.3	37	c.154	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765024	0.15914	.	.	ENSG00000106305	ENST00000223029	T	0.32272	1.46	5.26	3.44	0.39384	.	0.125660	0.53938	D	0.000046	T	0.22627	0.0546	L	0.48362	1.52	0.80722	D	1	B	0.23185	0.081	B	0.24848	0.056	T	0.05550	-1.0878	10	0.16896	T	0.51	-15.8531	6.0119	0.19580	0.1519:0.6903:0.0:0.1578	.	52	Q13155	AIMP2_HUMAN	V	52	ENSP00000223029:L52V	ENSP00000223029:L52V	L	+	1	2	AIMP2	6021321	0.996000	0.38824	0.789000	0.31954	0.909000	0.53808	3.182000	0.50910	0.593000	0.29745	-0.142000	0.14014	CTG	AIMP2	-	NULL		0.418	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	C	NM_006303		6054795	1	no_errors	ENST00000223029	ensembl	human	known	70_37	missense	SNP	0.976	G	G	6054795	C	G	6054795	3	3	13	1	0	0	0	0	1	0	0	0	434	912	32	1	160	1	AIMP2	7	6054795	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4535603	6054795	153083868	335	1779										
TWIST1	7291	genome.wustl.edu	37	chr7	19156432	19156432	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acatagctgcagcttgccatCttggagtccagctcgtcgct	10	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:19156432C>G	ENST00000242261.5	-	1	863	c.513G>C	c.(511-513)aaG>aaC	p.K171N	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	171	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						AGCTTGCCATCTTGGAGTCCA	0.617																																																	0													84	70	75					7																	19156432		2203	4300	6503	SO:0001583	missense	7291			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"Basic helix-loop-helix proteins"	12428	protein-coding gene	gene with protein product	"Saethre-Chotzen syndrome"	601622	"blepharophimosis, epicanthus inversus and ptosis 3", "acrocephalosyndactyly 3", "twist homolog 1 (Drosophila)", "twist basic helix-loop-helix transcription factor 1", "craniosynostosis"	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.513G>C	7.37:g.19156432C>G	ENSP00000242261:p.Lys171Asn		A4D128|Q92487|Q99804	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K171N	ENST00000242261.5	37	c.513	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	c	10.69	1.420095	0.25552	.	.	ENSG00000122691	ENST00000242261	D	0.98362	-4.89	4.77	4.77	0.60923	Helix-loop-helix DNA-binding (1);	0.000000	0.50627	D	0.000108	D	0.96923	0.8995	M	0.76328	2.33	0.58432	D	0.999995	P	0.42785	0.79	B	0.39660	0.306	D	0.96336	0.9247	10	0.49607	T	0.09	-14.8155	11.0229	0.47728	0.0:0.9124:0.0:0.0876	.	171	Q15672	TWST1_HUMAN	N	171	ENSP00000242261:K171N	ENSP00000242261:K171N	K	-	3	2	TWIST1	19122957	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.846000	0.39289	2.194000	0.70268	0.455000	0.32223	AAG	TWIST1	-	superfamily_HLH_dom		0.617	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	HGNC	protein_coding	OTTHUMT00000207625.1	C	NM_000474		19156432	-1	no_errors	ENST00000242261	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19156432	C	G	19156432	3	3	13	1	0	0	0	0	1	0	0	0	16814	912	32	1	99	1	TWIST1	7	19156432	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	13101637	19156432	139982231	336	1780										
DNAH11	8701	genome.wustl.edu	37	chr7	21901510	21901510	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acagagcgatcgagcaggctGacaaggtggaagacatgcag	15	8	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:21901510G>A	ENST00000409508.3	+	69	11273	c.11242G>A	c.(11242-11244)Gac>Aac	p.D3748N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D3755N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3755					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGAGCAGGCTGACAAGGTGGA	0.507									Kartagener syndrome																																								0													86	88	87					7																	21901510		2041	4201	6242	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11242G>A	7.37:g.21901510G>A	ENSP00000475939:p.Asp3748Asn		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3755N	ENST00000409508.3	37	c.11263		7	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777815	0.31502	.	.	ENSG00000105877	ENST00000328843	T	0.54279	0.58	5.65	5.65	0.86999	.	0.296450	0.40908	D	0.000997	T	0.45538	0.1347	.	.	.	0.35899	D	0.830226	B	0.16166	0.016	B	0.14023	0.01	T	0.44682	-0.9312	9	0.28530	T	0.3	.	19.3382	0.94329	0.0:0.0:1.0:0.0	.	3755	Q96DT5	DYH11_HUMAN	N	3755	ENSP00000330671:D3755N	ENSP00000330671:D3755N	D	+	1	0	DNAH11	21868035	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	4.677000	0.61634	2.656000	0.90262	0.591000	0.81541	GAC	DNAH11	-	NULL		0.507	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21901510	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	0.931	A	A	21901510	G	A	21901510	3	1	13	1	0	0	0	0	1	0	0	0	4609	1290	45	1	11538	1	DNAH11	7	21901510	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2745078	21901510	137237153	337	1781										
ZNRF2	223082	genome.wustl.edu	37	chr7	30402033	30402033	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagtaaatagatcttgccctGagcacccttcagattaagcg	8	10	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:30402033G>C	ENST00000323037.4	+	4	1763	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	238						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ATCTTGCCCTGAGCACCCTTC	0.299																																																	0													92	95	94					7																	30402033		2203	4300	6503	SO:0001583	missense	223082			AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"RING-type (C3HC4) zinc fingers"	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.712G>C	7.37:g.30402033G>C	ENSP00000323879:p.Glu238Gln			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E238Q	ENST00000323037.4	37	c.712	CCDS5426.1	7	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732371	0.48939	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	.	.	.	5.2	5.2	0.72013	Zinc finger, RING-type (2);	0.081755	0.46758	U	0.000262	T	0.53948	0.1828	N	0.04787	-0.16	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65150	-0.6238	9	0.54805	T	0.06	-12.4019	17.7134	0.88328	0.0:0.0:1.0:0.0	.	238	Q8NHG8	ZNRF2_HUMAN	Q	238;176	.	ENSP00000326497:E176Q	E	+	1	0	ZNRF2	30368558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.845000	0.99498	2.419000	0.82065	0.585000	0.79938	GAG	ZNRF2	-	smart_Znf_RING,pfscan_Znf_RING		0.299	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF2	HGNC	protein_coding	OTTHUMT00000214992.1	G	NM_147128		30402033	1	no_errors	ENST00000323037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30402033	G	C	30402033	3	2	13	1	0	0	0	0	1	0	0	0	18242	1291	45	1	726	1	ZNRF2	7	30402033	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8500523	30402033	128736630	338	1782										
URGCP	55665	genome.wustl.edu	37	chr7	43916610	43916610	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcatgaaggttctggtataCaaactggtagttgggcatgt	12	5	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:43916610C>G	ENST00000453200.1	-	6	2945	c.2452G>C	c.(2452-2454)Gta>Cta	p.V818L	URGCP_ENST00000443736.1_Missense_Mutation_p.V775L|URGCP_ENST00000402306.3_Missense_Mutation_p.V809L|URGCP_ENST00000447717.3_Missense_Mutation_p.V775L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.V775L|URGCP_ENST00000223341.7_Missense_Mutation_p.V775L|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	818	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGGTATACAAACTGGTAG	0.522																																																	0													91	88	89					7																	43916610		1934	4136	6070	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2452G>C	7.37:g.43916610C>G	ENSP00000396918:p.Val818Leu		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.V818L	ENST00000453200.1	37	c.2452	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060914	0.55432	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.16743	2.35;2.35;2.33;2.35;2.32;2.35	5.62	5.62	0.85841	.	0.285829	0.33938	N	0.004413	T	0.32041	0.0816	L	0.58810	1.83	0.38690	D	0.952748	P;P	0.46784	0.884;0.884	P;P	0.52646	0.705;0.705	T	0.02214	-1.1194	10	0.51188	T	0.08	-29.0285	17.1276	0.86718	0.0:1.0:0.0:0.0	.	809;818	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	775;775;809;775;818;775	ENSP00000223341:V775L;ENSP00000336872:V775L;ENSP00000384955:V809L;ENSP00000392136:V775L;ENSP00000396918:V818L;ENSP00000402803:V775L	ENSP00000223341:V775L	V	-	1	0	URGCP	43883135	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.862000	0.56009	2.657000	0.90304	0.591000	0.81541	GTA	URGCP	-	NULL		0.522	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	C	NM_001077664		43916610	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43916610	C	G	43916610	3	3	13	1	0	0	0	0	1	0	0	0	17057	478	17	4	347	4	URGCP	7	43916610	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	13514577	43916610	115222053	339	1783										
URGCP	55665	genome.wustl.edu	37	chr7	43916794	43916794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacgtcaaggccccacctatCaagcccccggagtctatcac	8	17	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:43916794C>G	ENST00000453200.1	-	6	2761	c.2268G>C	c.(2266-2268)ttG>ttC	p.L756F	URGCP_ENST00000443736.1_Missense_Mutation_p.L713F|URGCP_ENST00000402306.3_Missense_Mutation_p.L747F|URGCP_ENST00000447717.3_Missense_Mutation_p.L713F|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.L713F|URGCP_ENST00000223341.7_Missense_Mutation_p.L713F|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	756	VLIG-type G.		L -> F (in dbSNP:rs2232107).		cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCACCTATCAAGCCCCCGG	0.597																																																	0													42	44	43					7																	43916794		2038	4209	6247	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2268G>C	7.37:g.43916794C>G	ENSP00000396918:p.Leu756Phe		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.L756F	ENST00000453200.1	37	c.2268	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450097	0.84101	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.51	4.62	0.57501	GTP1/OBG (1);	0.320352	0.24846	N	0.035138	T	0.75155	0.3811	M	0.72118	2.19	0.09310	N	1	D;D	0.58620	0.983;0.983	D;D	0.63597	0.916;0.916	T	0.68081	-0.5503	10	0.62326	D	0.03	-17.0678	12.4804	0.55839	0.0:0.9167:0.0:0.0833	.	747;756	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	F	713;713;747;713;756;713	ENSP00000223341:L713F;ENSP00000336872:L713F;ENSP00000384955:L747F;ENSP00000392136:L713F;ENSP00000396918:L756F;ENSP00000402803:L713F	ENSP00000223341:L713F	L	-	3	2	URGCP	43883319	0.984000	0.35163	0.054000	0.19295	0.969000	0.65631	0.703000	0.25646	1.294000	0.44707	0.591000	0.81541	TTG	URGCP	-	prints_GTP_binding_domain		0.597	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	C	NM_001077664		43916794	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	missense	SNP	0.075	G	G	43916794	C	G	43916794	3	3	13	1	0	0	0	0	1	0	0	0	17057	825	29	1	531	1	URGCP	7	43916794	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	184	43916794	115221869	340	1784										
ABCA13	154664	genome.wustl.edu	37	chr7	48315169	48315169	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caactttacaaaagttacatCaggtgaaaatattcttgaca	5	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:48315169C>A	ENST00000435803.1	+	17	5930	c.5906C>A	c.(5905-5907)tCa>tAa	p.S1969*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1969					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAGTTACATCAGGTGAAAAT	0.313																																																	0													38	36	37					7																	48315169		1813	4081	5894	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5906C>A	7.37:g.48315169C>A	ENSP00000411096:p.Ser1969*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1969*	ENST00000435803.1	37	c.5906	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.833086	0.99475	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.32	0.344	0.16006	.	2.048190	0.02623	N	0.103397	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8724	0.29573	0.0:0.4405:0.0:0.5595	.	.	.	.	X	1969	.	.	S	+	2	0	ABCA13	48285715	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.463000	0.06696	0.062000	0.16340	0.585000	0.79938	TCA	ABCA13	-	NULL		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48315169	1	no_errors	ENST00000435803	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	48315169	C	A	48315169	4	1	13	1	0	0	0	0	0	1	0	0	31	838	29	3	5801	3	ABCA13	7	48315169	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4398375	48315169	110823494	341	1785										
LANCL2	55915	genome.wustl.edu	37	chr7	55492961	55492961	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcccaggtctttaaggaggaGaagtacttgaaagaggccat	13	7	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:55492961G>A	ENST00000254770.2	+	7	1601	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	341					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTAAGGAGGAGAAGTACTTGA	0.458																																																	0													117	111	113					7																	55492961		2203	4300	6503	SO:0001819	synonymous_variant	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1023G>A	7.37:g.55492961G>A			B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Silent	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.E341	ENST00000254770.2	37	c.1023	CCDS5517.1	7																																																																																			LANCL2	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk		0.458	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	G	NM_018697		55492961	1	no_errors	ENST00000254770	ensembl	human	known	70_37	silent	SNP	0.998	A	A	55492961	G	A	55492961	2	1	13	1	0	0	0	0	0	0	0	1	8641	933	33	1		1	LANCL2	7	55492961	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7177792	55492961	103645702	342	1786										
MLXIPL	51085	genome.wustl.edu	37	chr7	73013893	73013893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagagaggtgggtcatggccGaggaagccgggggcacctct	18	10	2	1	rs551026243		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:73013893G>A	ENST00000313375.3	-	8	1081	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	MLXIPL_ENST00000395189.1_Missense_Mutation_p.S252L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S345L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S345L|MLXIPL_ENST00000414749.2_Missense_Mutation_p.S345L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.S252L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	345					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCATGGCCGAGGAAGCCGG	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		14850	0		0	False		,,,				2504	0																0													42	49	47					7																	73013893		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1034C>T	7.37:g.73013893G>A	ENSP00000320886:p.Ser345Leu		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S345L	ENST00000313375.3	37	c.1034	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	g	2.487	-0.318238	0.05386	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24538	2.54;2.54;2.54;2.54;1.87;1.85	4.52	2.44	0.29823	.	1.562160	0.04227	U	0.334589	T	0.18087	0.0434	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B	0.15473	0.013;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.002;0.002	T	0.26573	-1.0099	10	0.45353	T	0.12	0.1079	7.1439	0.25573	0.2382:0.0:0.7618:0.0	.	252;252;345;345;345;345	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	L	345;345;345;345;252;252;178	ENSP00000412330:S345L;ENSP00000406296:S345L;ENSP00000320886:S345L;ENSP00000346629:S345L;ENSP00000378616:S252L;ENSP00000392636:S252L	ENSP00000320886:S345L	S	-	2	0	MLXIPL	72651829	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.601000	0.24119	0.224000	0.20940	0.550000	0.68814	TCG	MLXIPL	-	NULL		0.647	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73013893	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	missense	SNP	0.001	A	A	73013893	G	A	73013893	3	1	13	1	0	0	0	0	1	0	0	0	9660	1059	37	1	1564	1	MLXIPL	7	73013893	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	17520932	73013893	86124770	343	1787										
TMEM60	85025	genome.wustl.edu	37	chr7	77423670	77423670	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agccaggtgagtagtactctCtgagccaaggacattctcat	10	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:77423670C>G	ENST00000257663.3	-	2	397	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	7						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GTAGTACTCTCTGAGCCAAGG	0.398																																																	0													65	65	65					7																	77423670		2203	4300	6503	SO:0001583	missense	85025			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 35"	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.21G>C	7.37:g.77423670C>G	ENSP00000257663:p.Gln7His		A4D1C3|Q86UM0	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.Q7H	ENST00000257663.3	37	c.21	CCDS5593.1	7	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834675	0.16820	.	.	ENSG00000135211	ENST00000257663	T	0.22336	1.96	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	N	0.25426	0.745	0.40204	D	0.977541	B	0.32543	0.375	B	0.34418	0.182	T	0.11991	-1.0565	10	0.15952	T	0.53	-5.1812	11.9687	0.53051	0.0:0.8518:0.0:0.1482	.	7	Q9H2L4	TMM60_HUMAN	H	7	ENSP00000257663:Q7H	ENSP00000257663:Q7H	Q	-	3	2	TMEM60	77261606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.668000	0.37481	1.586000	0.49944	0.655000	0.94253	CAG	TMEM60	-	NULL		0.398	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM60	HGNC	protein_coding	OTTHUMT00000253185.2	C	NM_032936		77423670	-1	no_errors	ENST00000257663	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77423670	C	G	77423670	3	3	13	1	0	0	0	0	1	0	0	0	16217	912	32	1	384	1	TMEM60	7	77423670	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4409777	77423670	81714993	344	1788										
HGF	3082	genome.wustl.edu	37	chr7	81374376	81374376	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccagcgctgacaaatcttgCctgattctgtatgatccatg	8	12	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:81374376C>G	ENST00000222390.5	-	6	912	c.686G>C	c.(685-687)gGc>gCc	p.G229A	HGF_ENST00000457544.2_Missense_Mutation_p.G224A|HGF_ENST00000453411.1_Missense_Mutation_p.G224A|HGF_ENST00000444829.2_Missense_Mutation_p.G229A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	229	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACAAATCTTGCCTGATTCTGT	0.388																																																	0													91	86	88					7																	81374376		2203	4300	6503	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.686G>C	7.37:g.81374376C>G	ENSP00000222390:p.Gly229Ala		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G229A	ENST00000222390.5	37	c.686	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601990	0.87055	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.73	4.73	0.59995	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98965	4.385	0.80722	D	1	P;D;B;D	0.71674	0.857;0.998;0.303;0.974	B;P;B;P	0.59948	0.254;0.866;0.053;0.727	D	0.96127	0.9089	10	0.87932	D	0	.	18.2555	0.90019	0.0:1.0:0.0:0.0	.	224;229;224;229	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	A	229;224;229;224;229	ENSP00000222390:G229A;ENSP00000391238:G224A;ENSP00000389854:G229A;ENSP00000408270:G224A	ENSP00000222390:G229A	G	-	2	0	HGF	81212312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.940000	0.75917	2.609000	0.88269	0.655000	0.94253	GGC	HGF	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.388	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81374376	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81374376	C	G	81374376	3	3	13	1	0	0	0	0	1	0	0	0	7105	739	26	4	1564	4	HGF	7	81374376	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3950706	81374376	77764287	345	1789										
HGF	3082	genome.wustl.edu	37	chr7	81388032	81388032	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttttcatagaggtcaaattCatggccaaattcttttttca	6	7	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:81388032C>G	ENST00000222390.5	-	3	569	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	HGF_ENST00000457544.2_Missense_Mutation_p.E115Q|HGF_ENST00000453411.1_Missense_Mutation_p.E115Q|HGF_ENST00000423064.2_Missense_Mutation_p.E115Q|HGF_ENST00000444829.2_Missense_Mutation_p.E115Q|HGF_ENST00000354224.6_Missense_Mutation_p.E115Q|HGF_ENST00000453018.1_Missense_Mutation_p.E12Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	115	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGGTCAAATTCATGGCCAAAT	0.333																																																	0													104	103	103					7																	81388032		2203	4299	6502	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.343G>C	7.37:g.81388032C>G	ENSP00000222390:p.Glu115Gln		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E115Q	ENST00000222390.5	37	c.343	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233413	0.22626	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881;ENST00000421558	T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;0.02;-0.06;-0.06	5.16	4.26	0.50523	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.297471	0.36972	N	0.002313	T	0.48714	0.1515	L	0.36672	1.1	0.27973	N	0.936317	D;P;P;P;P	0.56521	0.976;0.716;0.811;0.933;0.889	P;B;B;B;B	0.45138	0.471;0.255;0.206;0.295;0.414	T	0.41305	-0.9516	10	0.25751	T	0.34	.	5.2569	0.15552	0.1502:0.6275:0.145:0.0773	.	150;115;115;115;115	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	Q	115;115;115;115;115;115;115;12;115;115	ENSP00000222390:E115Q;ENSP00000391238:E115Q;ENSP00000389854:E115Q;ENSP00000408270:E115Q;ENSP00000413829:E115Q;ENSP00000346164:E115Q;ENSP00000395468:E12Q;ENSP00000396307:E115Q;ENSP00000388592:E115Q	ENSP00000222390:E115Q	E	-	1	0	HGF	81225968	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.858000	0.39408	1.131000	0.42111	0.467000	0.42956	GAA	HGF	-	pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app		0.333	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81388032	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81388032	C	G	81388032	3	3	13	1	0	0	0	0	1	0	0	0	7105	835	29	1	1927	1	HGF	7	81388032	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	13656	81388032	77750631	346	1790										
PCLO	27445	genome.wustl.edu	37	chr7	82585820	82585820	+	Missense_Mutation	SNP	G	G	C													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggaaggaatatcttgttgGctatcttttttaaaagtgtc							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:82585820G>C	ENST00000333891.9	-	5	4786	c.4449C>G	c.(4447-4449)agC>agG	p.S1483R	PCLO_ENST00000423517.2_Missense_Mutation_p.S1483R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATCTTGTTGGCTATCTTTTT	0.353																																																	0													109	101	103					7																	82585820		1838	4088	5926	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4449C>G	7.37:g.82585820G>C	ENSP00000334319:p.Ser1483Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S1483R	ENST00000333891.9	37	c.4449	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	4.625	0.116167	0.08831	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15718	2.4;2.4	5.43	4.35	0.52113	.	.	.	.	.	T	0.14874	0.0359	L	0.27053	0.805	0.58432	D	0.999995	P;P	0.37636	0.603;0.603	B;B	0.39258	0.203;0.295	T	0.04678	-1.0934	9	0.87932	D	0	.	13.3937	0.60838	0.0865:0.0:0.9135:0.0	.	1483;1483	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1414;1483;1483	ENSP00000334319:S1483R;ENSP00000388393:S1483R	ENSP00000334319:S1483R	S	-	3	2	PCLO	82423756	0.003000	0.15002	0.100000	0.21137	0.233000	0.25261	0.357000	0.20199	2.564000	0.86499	0.650000	0.86243	AGC	PCLO	-	NULL		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82585820	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.082	C	C	82585820	G	C	82585820	3	2	13	1	0	0	0	0	1	0	0	0	11607	1194	42	4	11080	4	PCLO	7	82585820	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1197788	82585820	76552843	347	1791	7	2								
PCLO	27445	genome.wustl.edu	37	chr7	82585825	82585825	+	Missense_Mutation	SNP	C	C	G													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaatatcttgttggctatCttttttaaaagtgtctttcc							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:82585825C>G	ENST00000333891.9	-	5	4781	c.4444G>C	c.(4444-4446)Gat>Cat	p.D1482H	PCLO_ENST00000423517.2_Missense_Mutation_p.D1482H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGGCTATCTTTTTTAAAA	0.358																																																	0													108	100	103					7																	82585825		1837	4086	5923	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4444G>C	7.37:g.82585825C>G	ENSP00000334319:p.Asp1482His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D1482H	ENST00000333891.9	37	c.4444	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.340	0.248051	0.10130	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.43	5.43	0.79202	.	.	.	.	.	T	0.24044	0.0582	L	0.40543	1.245	0.80722	D	1	P;P	0.46220	0.755;0.874	B;P	0.46479	0.346;0.518	T	0.00804	-1.1559	9	0.87932	D	0	.	19.3027	0.94149	0.0:1.0:0.0:0.0	.	1482;1482	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1413;1482;1482	ENSP00000334319:D1482H;ENSP00000388393:D1482H	ENSP00000334319:D1482H	D	-	1	0	PCLO	82423761	0.317000	0.24589	0.213000	0.23690	0.297000	0.27493	2.972000	0.49256	2.564000	0.86499	0.650000	0.86243	GAT	PCLO	-	NULL		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82585825	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.606	G	G	82585825	C	G	82585825	3	3	13	1	0	0	0	0	1	0	0	0	11607	913	32	1	11085	1	PCLO	7	82585825	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5	82585825	76552838	348	1792	7	2								
PON2	5445	genome.wustl.edu	37	chr7	95041658	95041658	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgctgatgccatgtggattGaatgaggccaaatcaaaccc	11	9	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:95041658G>C	ENST00000222572.3	-	4	579	c.333C>G	c.(331-333)ttC>ttG	p.F111L	PON2_ENST00000536183.1_Missense_Mutation_p.F132L|PON2_ENST00000433091.2_Missense_Mutation_p.F111L|PON2_ENST00000483292.1_5'Flank			Q15165	PON2_HUMAN	paraoxonase 2	111					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGTGGATTGAATGAGGCCA	0.418																																					GBM(42;803 823 13649 23368 31463)												0													218	184	196					7																	95041658		2203	4300	6503	SO:0001583	missense	5445			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.333C>G	7.37:g.95041658G>C	ENSP00000222572:p.Phe111Leu		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.F132L	ENST00000222572.3	37	c.396	CCDS5640.1	7	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369968	0.42003	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.41065	3.65;1.01;3.65	4.78	-0.489	0.12052	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.62088	1.915	0.52501	D	0.999959	P;P	0.38078	0.617;0.617	B;B	0.34991	0.148;0.193	T	0.04216	-1.0968	10	0.26408	T	0.33	-8.9596	5.1064	0.14787	0.5461:0.0:0.3266:0.1273	.	111;111	A4D1H7;Q15165	.;PON2_HUMAN	L	132;109;111;111	ENSP00000440282:F132L;ENSP00000404622:F111L;ENSP00000222572:F111L	ENSP00000222572:F111L	F	-	3	2	PON2	94879594	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	0.895000	0.28363	-0.151000	0.11176	-0.367000	0.07326	TTC	PON2	-	NULL		0.418	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	G	NM_000305		95041658	-1	no_errors	ENST00000536183	ensembl	human	known	70_37	missense	SNP	0.998	C	C	95041658	G	C	95041658	3	2	13	1	0	0	0	0	1	0	0	0	12273	1281	45	1	755	1	PON2	7	95041658	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12455833	95041658	64097005	349	1793										
TRRAP	8295	genome.wustl.edu	37	chr7	98589764	98589764	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcttgtctctgagcaggttgGacgcgtgtatccccaagcgg	13	11	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:98589764G>C	ENST00000359863.4	+	64	9982	c.9773G>C	c.(9772-9774)gGa>gCa	p.G3258A	TRRAP_ENST00000446306.3_Missense_Mutation_p.G3229A|TRRAP_ENST00000355540.3_Missense_Mutation_p.G3229A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3258	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCAGGTTGGACGCGTGTAT	0.483																																																	0													204	194	197					7																	98589764		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9773G>C	7.37:g.98589764G>C	ENSP00000352925:p.Gly3258Ala		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G3258A	ENST00000359863.4	37	c.9773	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.835644|4.835644	0.91117|0.91117	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.01998	.|4.51;4.51	5.82|5.82	5.82|5.82	0.92795|0.92795	.|PIK-related kinase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.03348|0.03348	0.0097|0.0097	N|N	0.17872|0.17872	0.535|0.535	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.62365	.|0.886;0.982;0.991	.|P;P;P	.|0.51415	.|0.54;0.52;0.669	T|T	0.55418|0.55418	-0.8144|-0.8144	5|10	.|0.05620	.|T	.|0.96	.|.	20.1054|20.1054	0.97890|0.97890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3229;2968;3258	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	H|A	2969|3258;3229;3228	.|ENSP00000352925:G3258A;ENSP00000347733:G3229A	.|ENSP00000347733:G3229A	D|G	+|+	1|2	0|0	TRRAP|TRRAP	98427700|98427700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.869000|9.869000	0.99810|0.99810	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GAC|GGA	TRRAP	-	pfscan_PIK_FAT		0.483	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98589764	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98589764	G	C	98589764	3	2	13	1	0	0	0	0	1	0	0	0	16632	1174	41	1	9932	1	TRRAP	7	98589764	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3548106	98589764	60548899	350	1794										
ZNF394	84124	genome.wustl.edu	37	chr7	99091372	99091372	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcttctccccagtgtggattCtgtggtgtttaaagaggtca	12	8	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:99091372C>T	ENST00000337673.6	-	3	1669	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	489					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGTGTGGATTCTGTGGTGTTT	0.458																																					Ovarian(24;589 697 9939 12704 40742)												0													119	115	116					7																	99091372		2203	4300	6503	SO:0001583	missense	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1466G>A	7.37:g.99091372C>T	ENSP00000337363:p.Arg489Lys		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R489K	ENST00000337673.6	37	c.1466	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863029	0.71949	.	.	ENSG00000160908	ENST00000337673	T	0.18338	2.22	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.14184	0.0343	N	0.20610	0.595	0.80722	D	1	B	0.27656	0.184	B	0.40901	0.343	T	0.09552	-1.0669	10	0.46703	T	0.11	.	7.061	0.25125	0.0:0.8791:0.0:0.1209	.	489	Q53GI3	ZN394_HUMAN	K	489	ENSP00000337363:R489K	ENSP00000337363:R489K	R	-	2	0	ZNF394	98929308	0.000000	0.05858	0.983000	0.44433	0.865000	0.49528	0.549000	0.23329	2.292000	0.77174	0.655000	0.94253	AGA	ZNF394	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	C	NM_032164		99091372	-1	no_errors	ENST00000337673	ensembl	human	known	70_37	missense	SNP	0.992	T	T	99091372	C	T	99091372	3	4	13	1	0	0	0	0	1	0	0	0	17910	913	32	1	223	1	ZNF394	7	99091372	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	501608	99091372	60047291	351	1795										
ZKSCAN5	23660	genome.wustl.edu	37	chr7	99104013	99104013	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggtgagggaacatcaccctGaaagtggagaagaggcggtg	18	6	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:99104013G>A	ENST00000394170.2	+	2	597	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E116K|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E116K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	116	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACATCACCCTGAAAGTGGAGA	0.532																																																	0													71	73	72					7																	99104013		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.346G>A	7.37:g.99104013G>A	ENSP00000377725:p.Glu116Lys		A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E116K	ENST00000394170.2	37	c.346	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734764	0.69189	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170;ENST00000439985	T;T;T	0.04551	3.6;3.6;3.6	4.93	2.13	0.27403	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.132235	0.34338	N	0.004054	T	0.04634	0.0126	L	0.47190	1.495	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.36163	-0.9759	10	0.37606	T	0.19	.	5.2894	0.15719	0.1823:0.1671:0.6506:0.0	.	116;116	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	116;116;116;116;64	ENSP00000322872:E116K;ENSP00000392104:E116K;ENSP00000377725:E116K	ENSP00000322872:E116K	E	+	1	0	ZKSCAN5	98941949	0.995000	0.38212	0.003000	0.11579	0.862000	0.49288	2.670000	0.46833	0.368000	0.24481	0.561000	0.74099	GAA	ZKSCAN5	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.532	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	G	NM_014569		99104013	1	no_errors	ENST00000326775	ensembl	human	known	70_37	missense	SNP	0.023	A	A	99104013	G	A	99104013	3	1	13	1	0	0	0	0	1	0	0	0	17720	1291	45	1	348	1	ZKSCAN5	7	99104013	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12641	99104013	60034650	352	1796										
STAG3	10734	genome.wustl.edu	37	chr7	99786601	99786601	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctcactggcctctcagactCacaagtccgcgccttccgtc	8	18	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:99786601C>G	ENST00000426455.1	+	7	1084	c.677C>G	c.(676-678)tCa>tGa	p.S226*	STAG3_ENST00000394018.2_Nonsense_Mutation_p.S168*|STAG3_ENST00000317296.5_Nonsense_Mutation_p.S226*	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	226					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTCAGACTCACAAGTCCGC	0.517																																																	0													108	105	106					7																	99786601		2203	4300	6503	SO:0001587	stop_gained	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.677C>G	7.37:g.99786601C>G	ENSP00000400359:p.Ser226*		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.S226*	ENST00000426455.1	37	c.677	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	38	7.084273	0.98051	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296;ENST00000439782	.	.	.	5.41	5.41	0.78517	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5918	16.7269	0.85424	0.0:1.0:0.0:0.0	.	.	.	.	X	226;168;184;226;168	.	ENSP00000319318:S226X	S	+	2	0	STAG3	99624537	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.473000	0.81007	2.821000	0.97095	0.555000	0.69702	TCA	STAG3	-	pfam_STAG		0.517	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	C	NM_012447		99786601	1	no_errors	ENST00000317296	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	99786601	C	G	99786601	4	3	13	1	0	0	0	0	0	1	0	0	15274	838	29	1	699	1	STAG3	7	99786601	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	682588	99786601	59352062	353	1797										
SRRT	51593	genome.wustl.edu	37	chr7	100473329	100473329	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtcgaggggacgattggaatGacaggtgagccgtttttaac	15	6	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:100473329G>A	ENST00000347433.4	+	2	276	c.118G>A	c.(118-120)Gac>Aac	p.D40N	SRRT_ENST00000432932.1_Missense_Mutation_p.D40N|SRRT_ENST00000457580.2_Missense_Mutation_p.D40N|SRRT_ENST00000388793.4_Missense_Mutation_p.D40N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	40	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGATTGGAATGACAGGTGAGC	0.532																																																	0													129	116	121					7																	100473329		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.118G>A	7.37:g.100473329G>A	ENSP00000314491:p.Asp40Asn		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.D40N	ENST00000347433.4	37	c.118	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605786	0.66445	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	4.03	4.03	0.46877	.	0.134893	0.47093	D	0.000249	T	0.54581	0.1867	L	0.53249	1.67	0.48040	D	0.99957	P;P;P;P	0.40731	0.728;0.728;0.728;0.608	B;B;B;B	0.42916	0.402;0.402;0.402;0.227	T	0.52852	-0.8520	9	0.24483	T	0.36	.	13.7039	0.62627	0.0:0.0:1.0:0.0	.	40;40;40;40	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	40;40;40;40;47	.	ENSP00000314491:D40N	D	+	1	0	SRRT	100311265	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.775000	0.75018	2.073000	0.62155	0.561000	0.74099	GAC	SRRT	-	NULL		0.532	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100473329	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100473329	G	A	100473329	3	1	13	1	0	0	0	0	1	0	0	0	15202	1290	45	1	120	1	SRRT	7	100473329	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	686728	100473329	58665334	354	1798										
CUX1	1523	genome.wustl.edu	37	chr7	101882709	101882709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccccagccccagcaccagctGaagaaaccccgggtggtgct	11	17	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:101882709G>A	ENST00000292535.7	+	23	3770	c.3732G>A	c.(3730-3732)ctG>ctA	p.L1244L	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.L1086L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.L1188L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.L1255L|CUX1_ENST00000549414.2_Silent_p.L1222L|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.L1142L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1244					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCACCAGCTGAAGAAACCCC	0.642																																																	0													34	38	36					7																	101882709		2203	4300	6503	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3732G>A	7.37:g.101882709G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L1255	ENST00000292535.7	37	c.3765	CCDS5721.1	7																																																																																			CUX1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913		101882709	1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	0.999	A	A	101882709	G	A	101882709	2	1	13	1	0	0	0	0	0	0	0	1	4069	1277	45	1		1	CUX1	7	101882709	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1409380	101882709	57255954	355	1799										
ARMC10	83787	genome.wustl.edu	37	chr7	102716269	102716269	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggtcagttgtgcgggcgctCggcccggcctcagacgggag	19	12	2	1	rs149036313		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:102716269C>A	ENST00000323716.3	+	2	577	c.185C>A	c.(184-186)tCg>tAg	p.S62*	ARMC10_ENST00000425331.1_Intron|FBXL13_ENST00000393772.2_5'Flank|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|ARMC10_ENST00000428183.2_Nonsense_Mutation_p.S62*|ARMC10_ENST00000441711.2_Intron|FBXL13_ENST00000456695.1_5'Flank|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379308.3_5'Flank|FBXL13_ENST00000379306.3_5'Flank|ARMC10_ENST00000454559.1_Intron|FBXL13_ENST00000471074.1_5'Flank	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	62					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCGGGCGCTCGGCCCGGCCT	0.602																																																	0													61	56	58					7																	102716269		2203	4300	6503	SO:0001587	stop_gained	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.185C>A	7.37:g.102716269C>A	ENSP00000319412:p.Ser62*		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S62*	ENST00000323716.3	37	c.185	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.075768	0.97262	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	.	.	.	2.15	-0.318	0.12728	.	2.156950	0.02628	U	0.103958	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	2.3638	0.04314	0.0:0.3909:0.3134:0.2956	.	.	.	.	X	62	.	ENSP00000319412:S62X	S	+	2	0	ARMC10	102503505	0.000000	0.05858	0.001000	0.08648	0.326000	0.28443	-2.799000	0.00762	-0.076000	0.12775	0.591000	0.81541	TCG	ARMC10	-	NULL		0.602	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	C	NM_031905		102716269	1	no_errors	ENST00000323716	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	102716269	C	A	102716269	4	1	13	1	0	0	0	0	0	1	0	0	951	893	31	3	191	3	ARMC10	7	102716269	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	833560	102716269	56422394	356	1800										
LAMB1	3912	genome.wustl.edu	37	chr7	107626622	107626622	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acacagaagcaaacaaacctCtccttcagttgagggttcaa	7	11	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:107626622C>G	ENST00000222399.6	-	6	840	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	LAMB1_ENST00000393560.1_Missense_Mutation_p.E204Q|LAMB1_ENST00000393561.1_Missense_Mutation_p.E228Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	204	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAACAAACCTCTCCTTCAGTT	0.368																																																	0													111	110	111					7																	107626622		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.610G>C	7.37:g.107626622C>G	ENSP00000222399:p.Glu204Gln		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E204Q	ENST00000222399.6	37	c.610	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047654	0.93740	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.80214	-1.35;-1.35;-1.35	5.72	5.72	0.89469	Laminin, N-terminal (3);	.	.	.	.	D	0.90403	0.6996	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.90828	0.4714	9	0.87932	D	0	.	19.8874	0.96916	0.0:1.0:0.0:0.0	.	204;204;228	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	Q	228;204;204	ENSP00000377191:E228Q;ENSP00000222399:E204Q;ENSP00000377190:E204Q	ENSP00000222399:E204Q	E	-	1	0	LAMB1	107413858	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.697000	0.92050	0.557000	0.71058	GAG	LAMB1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.368	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107626622	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107626622	C	G	107626622	3	3	13	1	0	0	0	0	1	0	0	0	8630	922	32	1	4866	1	LAMB1	7	107626622	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4910353	107626622	51512041	357	1801										
PNPLA8	50640	genome.wustl.edu	37	chr7	108154978	108154978	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttcctgttcttctgactGactctttgaatcatacttta	4	11	5	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:108154978G>A	ENST00000422087.1	-	4	1364	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000426128.2_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000453144.1_Nonsense_Mutation_p.Q220*|PNPLA8_ENST00000436062.1_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000388728.5_Nonsense_Mutation_p.Q320*	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	320					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTTCTGACTGACTCTTTGAA	0.423																																																	0													111	111	111					7																	108154978		2203	4300	6503	SO:0001587	stop_gained	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.958C>T	7.37:g.108154978G>A	ENSP00000410804:p.Gln320*		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Nonsense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.Q320*	ENST00000422087.1	37	c.958	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.162111	0.97338	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	.	.	.	4.5	3.59	0.41128	.	0.859098	0.10445	N	0.673760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.5597	0.45138	0.0:0.0:0.5325:0.4675	.	.	.	.	X	320;320;320;320;220;320;220	.	ENSP00000257694:Q320X	Q	-	1	0	PNPLA8	107942214	0.846000	0.29590	0.749000	0.31150	0.673000	0.39480	1.898000	0.39809	1.206000	0.43276	0.591000	0.81541	CAG	PNPLA8	-	NULL		0.423	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	G	NM_015723		108154978	-1	no_errors	ENST00000257694	ensembl	human	known	70_37	nonsense	SNP	0.366	A	A	108154978	G	A	108154978	4	1	13	1	0	0	0	0	0	1	0	0	12195	1299	45	1	1426	1	PNPLA8	7	108154978	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	528356	108154978	50983685	358	1802										
CAV2	858	genome.wustl.edu	37	chr7	116140326	116140326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcctcagctgggcttcgagGatgtgatcgcagagccggtg	15	11	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:116140326G>T	ENST00000222693.4	+	2	555	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000393480.2_Missense_Mutation_p.D55Y|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	55					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GGGCTTCGAGGATGTGATCGC	0.582																																																	0													119	102	108					7																	116140326		2203	4300	6503	SO:0001583	missense	858			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.163G>T	7.37:g.116140326G>T	ENSP00000222693:p.Asp55Tyr		A4D0U2|Q9UGM7	Missense_Mutation	SNP	pfam_Caveolin	p.D55Y	ENST00000222693.4	37	c.163	CCDS5766.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.203264	0.95033	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.95853	-3.83;-3.83	4.6	4.6	0.57074	Caveolin, conserved site (1);	0.044027	0.85682	D	0.000000	D	0.98327	0.9445	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99782	1.1028	10	0.87932	D	0	-35.6272	17.7875	0.88542	0.0:0.0:1.0:0.0	.	55	P51636	CAV2_HUMAN	Y	55	ENSP00000222693:D55Y;ENSP00000377120:D55Y	ENSP00000222693:D55Y	D	+	1	0	CAV2	115927562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.633000	0.98432	2.254000	0.74563	0.563000	0.77884	GAT	CAV2	-	pfam_Caveolin		0.582	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	G	NM_001233		116140326	1	no_errors	ENST00000222693	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116140326	G	T	116140326	3	4	13	1	0	0	0	0	1	0	0	0	2699	1174	41	3	169	3	CAV2	7	116140326	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7985348	116140326	42998337	359	1803										
MET	4233	genome.wustl.edu	37	chr7	116371803	116371803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccacagctttgcagcgcgttGacttattcatgggtcaattc	9	11	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:116371803G>C	ENST00000318493.6	+	3	1469	c.1282G>C	c.(1282-1284)Gac>Cac	p.D428H	MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.D428H|MET_ENST00000436117.2_Missense_Mutation_p.D428H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCAGCGCGTTGACTTATTCAT	0.443			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													124	115	118					7																	116371803		1927	4114	6041	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1282G>C	7.37:g.116371803G>C	ENSP00000317272:p.Asp428His		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D428H	ENST00000318493.6	37	c.1282	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047243	0.55110	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.12465	2.68;2.68;2.68	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.090250	0.85682	D	0.000000	T	0.42449	0.1203	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;0.997;0.997;0.997;0.997;0.995;0.991;0.995;1.0	T	0.32640	-0.9899	10	0.87932	D	0	.	19.5825	0.95473	0.0:0.0:1.0:0.0	.	428;428;428;428;428;428;428;428;428;428;428	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	H	428	ENSP00000380860:D428H;ENSP00000317272:D428H;ENSP00000410980:D428H	ENSP00000317272:D428H	D	+	1	0	MET	116159039	1.000000	0.71417	0.971000	0.41717	0.238000	0.25445	7.539000	0.82063	2.624000	0.88883	0.655000	0.94253	GAC	MET	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.443	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	G			116371803	1	no_errors	ENST00000318493	ensembl	human	known	70_37	missense	SNP	0.997	C	C	116371803	G	C	116371803	3	2	13	1	0	0	0	0	1	0	0	0	9508	1290	45	1	1288	1	MET	7	116371803	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	231477	116371803	42766860	360	1804										
ASB15	142685	genome.wustl.edu	37	chr7	123276930	123276930	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttatgggtctccagaaactCtgccagccagcctcagtgga	10	13	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:123276930C>G	ENST00000451558.1	+	14	2183	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L	ASB15_ENST00000275699.3_Silent_p.L554L|ASB15_ENST00000451215.1_Silent_p.L554L|ASB15_ENST00000540573.1_Silent_p.L554L|ASB15_ENST00000434204.1_Silent_p.L554L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	554	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TCCAGAAACTCTGCCAGCCAG	0.373																																																	0													59	69	66					7																	123276930		2203	4299	6502	SO:0001819	synonymous_variant	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1662C>G	7.37:g.123276930C>G			Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L554	ENST00000451558.1	37	c.1662	CCDS34742.1	7																																																																																			ASB15	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.373	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	C			123276930	1	no_errors	ENST00000275699	ensembl	human	known	70_37	silent	SNP	0.993	G	G	123276930	C	G	123276930	2	3	13	1	0	0	0	0	0	0	0	1	1020	900	32	1		1	ASB15	7	123276930	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6905127	123276930	35861733	361	1805										
SND1	27044	genome.wustl.edu	37	chr7	127334894	127334894	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctttcagccctgggcatttCcagctcgagagttccttcga	9	13	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:127334894C>G	ENST00000354725.3	+	3	435	c.241C>G	c.(241-243)Cca>Gca	p.P81A		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	81	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGGGCATTTCCAGCTCGAGA	0.448																																																	0													111	110	110					7																	127334894		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.241C>G	7.37:g.127334894C>G	ENSP00000346762:p.Pro81Ala		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.P81A	ENST00000354725.3	37	c.241	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715040	0.68844	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.27104	1.69	5.88	5.88	0.94601	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.102141	0.64402	N	0.000002	T	0.14743	0.0356	N	0.03324	-0.35	0.52099	D	0.999943	B	0.09022	0.002	B	0.15052	0.012	T	0.10800	-1.0614	10	0.40728	T	0.16	-12.0452	17.7275	0.88369	0.0:1.0:0.0:0.0	.	81	Q7KZF4	SND1_HUMAN	A	81;71	ENSP00000346762:P81A	ENSP00000346762:P81A	P	+	1	0	SND1	127122130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.666000	0.83877	2.791000	0.96007	0.563000	0.77884	CCA	SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.448	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127334894	1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127334894	C	G	127334894	3	3	13	1	0	0	0	0	1	0	0	0	14874	855	30	1	251	1	SND1	7	127334894	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4057964	127334894	31803769	362	1806										
AKR1B1	231	genome.wustl.edu	37	chr7	134133207	134133207	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctttggactggcagtactgGattaacttctcctgagtgag	11	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:134133207G>C	ENST00000285930.4	-	6	670	c.591C>G	c.(589-591)atC>atG	p.I197M	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	197					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GGCAGTACTGGATTAACTTCT	0.552																																																	0													109	104	105					7																	134133207		2203	4300	6503	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.591C>G	7.37:g.134133207G>C	ENSP00000285930:p.Ile197Met		B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.I197M	ENST00000285930.4	37	c.591	CCDS5831.1	7	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353537	0.61293	.	.	ENSG00000085662	ENST00000285930	T	0.26067	1.76	5.03	0.749	0.18381	NADP-dependent oxidoreductase domain (3);	0.190605	0.56097	D	0.000037	T	0.36413	0.0966	M	0.64676	1.99	0.53005	D	0.999962	P	0.48640	0.913	D	0.64595	0.927	T	0.20874	-1.0262	10	0.62326	D	0.03	.	1.6476	0.02765	0.2336:0.2543:0.3823:0.1298	.	197	P15121	ALDR_HUMAN	M	197	ENSP00000285930:I197M	ENSP00000285930:I197M	I	-	3	3	AKR1B1	133783747	0.991000	0.36638	0.741000	0.31004	0.952000	0.60782	0.608000	0.24223	0.218000	0.20820	0.561000	0.74099	ATC	AKR1B1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.552	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B1	HGNC	protein_coding	OTTHUMT00000339448.2	G	NM_001628		134133207	-1	no_errors	ENST00000285930	ensembl	human	known	70_37	missense	SNP	0.987	C	C	134133207	G	C	134133207	3	2	13	1	0	0	0	0	1	0	0	0	466	1164	41	1	379	1	AKR1B1	7	134133207	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6798313	134133207	25005456	363	1807										
NUP205	23165	genome.wustl.edu	37	chr7	135300800	135300800	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttactggatgacatgccagtGaaaccatactcaggtgagta	10	8	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:135300800G>A	ENST00000285968.6	+	24	3473	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1149					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACATGCCAGTGAAACCATACT	0.433																																																	0													154	139	144					7																	135300800		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3447G>A	7.37:g.135300800G>A			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.V1149	ENST00000285968.6	37	c.3447	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414		0.433	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135300800	1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	1.000	A	A	135300800	G	A	135300800	2	1	13	1	0	0	0	0	0	0	0	1	10783	1277	45	1		1	NUP205	7	135300800	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1167593	135300800	23837863	364	1808										
CHRM2	1129	genome.wustl.edu	37	chr7	136700395	136700395	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggagcacaacaaaatccaGaatggcaaagcccccaggga	10	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:136700395G>A	ENST00000445907.2	+	3	1311	c.783G>A	c.(781-783)caG>caA	p.Q261Q	CHRM2_ENST00000397608.3_Silent_p.Q261Q|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.Q261Q|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Silent_p.Q261Q|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.Q261Q|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.Q261Q	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	261					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACAAAATCCAGAATGGCAAAG	0.507																																																	0													55	60	58					7																	136700395		2202	4300	6502	SO:0001819	synonymous_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.783G>A	7.37:g.136700395G>A			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.Q261	ENST00000445907.2	37	c.783	CCDS5843.1	7																																																																																			CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700395	1	no_errors	ENST00000320658	ensembl	human	known	70_37	silent	SNP	1.000	A	A	136700395	G	A	136700395	2	1	13	1	0	0	0	0	0	0	0	1	3382	933	33	1		1	CHRM2	7	136700395	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1399595	136700395	22438268	365	1809										
AKR1D1	6718	genome.wustl.edu	37	chr7	137790151	137790151	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcctgaacaagccaggactCaaacacaagccagtcagcaa	7	13	2	1	rs545816543		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:137790151C>G	ENST00000242375.3	+	5	597	c.555C>G	c.(553-555)ctC>ctG	p.L185L	AKR1D1_ENST00000432161.1_Silent_p.L185L|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	185					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	AGCCAGGACTCAAACACAAGC	0.537													C|||	1	0.000199681	0	0	5008	,	,		14344	0		0	False		,,,				2504	0.001																0													114	117	116					7																	137790151		2203	4300	6503	SO:0001819	synonymous_variant	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.555C>G	7.37:g.137790151C>G			A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L185	ENST00000242375.3	37	c.555	CCDS5846.1	7																																																																																			AKR1D1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.537	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	C	NM_005989		137790151	1	no_errors	ENST00000242375	ensembl	human	known	70_37	silent	SNP	0.998	G	G	137790151	C	G	137790151	2	3	13	1	0	0	0	0	0	0	0	1	473	813	29	1		1	AKR1D1	7	137790151	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1089756	137790151	21348512	366	1810										
OR2A5	393046	genome.wustl.edu	37	chr7	143748007	143748007	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggctgcccttctgtgggccCcatgaaatcaaccacttctt	8	14	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:143748007C>A	ENST00000408906.2	+	1	547	c.513C>A	c.(511-513)ccC>ccA	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552																																																	0													185	189	188					7																	143748007		2055	4223	6278	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.513C>A	7.37:g.143748007C>A			B9EGX2|O43885|O43888	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P171	ENST00000408906.2	37	c.513	CCDS43668.1	7																																																																																			OR2A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A5	HGNC	protein_coding	OTTHUMT00000349986.1	C			143748007	1	no_errors	ENST00000408906	ensembl	human	known	70_37	silent	SNP	0.815	A	A	143748007	C	A	143748007	2	1	13	1	0	0	0	0	0	0	0	1	11005	610	22	4		4	OR2A5	7	143748007	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5957856	143748007	15390656	367	1811										
OR2A25	392138	genome.wustl.edu	37	chr7	143772059	143772059	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cacctctgtgtggttggactCttttatggcacagccatcat	9	11	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:143772059C>T	ENST00000408898.2	+	1	785	c.747C>T	c.(745-747)ctC>ctT	p.L249L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGTTGGACTCTTTTATGGCA	0.483																																																	0													121	132	128					7																	143772059		2194	4299	6493	SO:0001819	synonymous_variant	392138				CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.747C>T	7.37:g.143772059C>T			B2RNC9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L249	ENST00000408898.2	37	c.747	CCDS43669.1	7																																																																																			OR2A25	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A25	HGNC	protein_coding	OTTHUMT00000350000.1	C			143772059	1	no_errors	ENST00000408898	ensembl	human	known	70_37	silent	SNP	0.992	T	T	143772059	C	T	143772059	2	4	13	1	0	0	0	0	0	0	0	1	11002	900	32	1		1	OR2A25	7	143772059	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	24052	143772059	15366604	368	1812										
CUL1	8454	genome.wustl.edu	37	chr7	148454089	148454089	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttttaggatggagaagatttGatggatgagagtgtactgaa	14	1	0	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:148454089G>A	ENST00000325222.4	+	4	609	c.330G>A	c.(328-330)ttG>ttA	p.L110L	CUL1_ENST00000602748.1_Silent_p.L110L|CUL1_ENST00000409469.1_Silent_p.L110L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGAAGATTTGATGGATGAGA	0.313																																																	0													125	129	127					7																	148454089		2203	4300	6503	SO:0001819	synonymous_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.330G>A	7.37:g.148454089G>A			D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L110	ENST00000325222.4	37	c.330	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.313	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148454089	1	no_errors	ENST00000325222	ensembl	human	known	70_37	silent	SNP	1.000	A	A	148454089	G	A	148454089	2	1	13	1	0	0	0	0	0	0	0	1	4059	1281	45	1		1	CUL1	7	148454089	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4682030	148454089	10684574	369	1813										
EZH2	2146	genome.wustl.edu	37	chr7	148513787	148513787	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagactcaccggtgtttcctCttctttttccttggaggagt	9	11	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:148513787C>T	ENST00000460911.1	-	12	1567	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	EZH2_ENST00000478654.1_Silent_p.K484K|EZH2_ENST00000483967.1_Silent_p.K484K|EZH2_ENST00000476773.1_Silent_p.K484K|EZH2_ENST00000320356.2_Silent_p.K498K|EZH2_ENST00000541220.1_Silent_p.K484K|EZH2_ENST00000350995.2_Silent_p.K454K			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	493	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GGTGTTTCCTCTTCTTTTTCC	0.473			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													103	89	94					7																	148513787		2203	4300	6503	SO:0001819	synonymous_variant	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1479G>A	7.37:g.148513787C>T			B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.K498	ENST00000460911.1	37	c.1494	CCDS56516.1	7																																																																																			EZH2	-	NULL		0.473	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	C	NM_004456		148513787	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	silent	SNP	0.945	T	T	148513787	C	T	148513787	2	4	13	1	0	0	0	0	0	0	0	1	5346	912	32	1		1	EZH2	7	148513787	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	59698	148513787	10624876	370	1814										
GIMAP7	168537	genome.wustl.edu	37	chr7	150217069	150217069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcctgacgtgagcatggctGagagtgaggaccgctccctg	14	12	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:150217069G>C	ENST00000313543.4	+	2	164	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	3					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCATGGCTGAGAGTGAGGA	0.488																																																	0													63	57	59					7																	150217069		2203	4300	6503	SO:0001583	missense	168537			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.7G>C	7.37:g.150217069G>C	ENSP00000315474:p.Glu3Gln			Missense_Mutation	SNP	pfam_AIG1	p.E3Q	ENST00000313543.4	37	c.7	CCDS5903.1	7	.	.	.	.	.	.	.	.	.	.	G	9.317	1.057133	0.19907	.	.	ENSG00000179144	ENST00000313543	T	0.06933	3.24	5.09	2.18	0.27775	.	1.279820	0.05259	N	0.515415	T	0.05731	0.0150	L	0.32530	0.975	0.09310	N	1	P	0.35363	0.497	B	0.28553	0.091	T	0.34725	-0.9817	10	0.16896	T	0.51	.	3.8751	0.09053	0.1961:0.0:0.6122:0.1917	.	3	Q8NHV1	GIMA7_HUMAN	Q	3	ENSP00000315474:E3Q	ENSP00000315474:E3Q	E	+	1	0	GIMAP7	149848002	0.000000	0.05858	0.103000	0.21229	0.043000	0.13939	0.139000	0.16036	1.386000	0.46466	0.655000	0.94253	GAG	GIMAP7	-	NULL		0.488	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP7	HGNC	protein_coding	OTTHUMT00000349277.1	G	NM_153236		150217069	1	no_errors	ENST00000313543	ensembl	human	known	70_37	missense	SNP	0.001	C	C	150217069	G	C	150217069	3	2	13	1	0	0	0	0	1	0	0	0	6403	1291	45	1	9	1	GIMAP7	7	150217069	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1703282	150217069	8921594	371	1815										
TMEM176A	55365	genome.wustl.edu	37	chr7	150499329	150499329	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagatcgtgctggggatcttGagtgcagtcctaggaggatt	15	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:150499329G>C	ENST00000484928.1	+	3	782	c.201G>C	c.(199-201)ttG>ttC	p.L67F	TMEM176A_ENST00000004103.3_Missense_Mutation_p.L67F|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L8F|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000326442.5_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000492607.1_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	67					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGATCTTGAGTGCAGTCC	0.567																																																	0													162	137	145					7																	150499329		2203	4300	6503	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.201G>C	7.37:g.150499329G>C	ENSP00000417626:p.Leu67Phe		D3DX00|Q9NYC7	Missense_Mutation	SNP	pfam_CD20-like	p.L67F	ENST00000484928.1	37	c.201	CCDS5909.1	7	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983584	0.53827	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	4.6	0.722	0.18225	.	0.550372	0.16425	N	0.214988	T	0.04003	0.0112	M	0.64997	1.995	0.09310	N	1	B	0.28760	0.221	B	0.33846	0.171	T	0.34428	-0.9829	10	0.66056	D	0.02	-14.3634	3.8081	0.08786	0.3032:0.1832:0.5135:0.0	.	67	Q96HP8	T176A_HUMAN	F	67;67;8;19;8	ENSP00000417626:L67F;ENSP00000004103:L67F;ENSP00000420818:L8F;ENSP00000417834:L19F;ENSP00000420081:L8F	ENSP00000004103:L67F	L	+	3	2	TMEM176A	150130262	0.155000	0.22806	0.004000	0.12327	0.193000	0.23685	-0.101000	0.10973	0.265000	0.21872	-0.305000	0.09177	TTG	TMEM176A	-	pfam_CD20-like		0.567	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	HGNC	protein_coding	OTTHUMT00000350222.1	G	NM_018487		150499329	1	no_errors	ENST00000004103	ensembl	human	known	70_37	missense	SNP	0.004	C	C	150499329	G	C	150499329	3	2	13	1	0	0	0	0	1	0	0	0	16122	1281	45	1	207	1	TMEM176A	7	150499329	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	282260	150499329	8639334	372	1816										
MLL3	58508	genome.wustl.edu	37	chr7	151878871	151878871	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcaacaagggtcgtgcatatGagtcaggtatcctttgtctt	10	8	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:151878871G>C	ENST00000262189.6	-	36	6292	c.6074C>G	c.(6073-6075)tCa>tGa	p.S2025*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S2025*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2025	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGTGCATATGAGTCAGGTAT	0.468																																																	0													119	115	116					7																	151878871		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6074C>G	7.37:g.151878871G>C	ENSP00000262189:p.Ser2025*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2025*	ENST00000262189.6	37	c.6074	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.000636	0.99774	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.28	5.28	0.74379	.	0.742338	0.11320	N	0.576125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.8324	0.63389	0.0:0.0:0.847:0.153	.	.	.	.	X	2025	.	ENSP00000262189:S2025X	S	-	2	0	MLL3	151509804	1.000000	0.71417	0.726000	0.30738	0.876000	0.50452	7.763000	0.85283	2.483000	0.83821	0.563000	0.77884	TCA	MLL3	-	NULL		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878871	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	151878871	G	C	151878871	4	2	13	1	0	0	0	0	0	1	0	0	9645	1294	45	1	8757	1	MLL3	7	151878871	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1379542	151878871	7259792	373	1817										
MLL3	58508	genome.wustl.edu	37	chr7	151879322	151879322	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cacttgcggtgagggtggctGagaagtctgagcctgagaaa	16	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:151879322G>A	ENST00000262189.6	-	36	5841	c.5623C>T	c.(5623-5625)Cag>Tag	p.Q1875*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1875*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1875	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGGGTGGCTGAGAAGTCTGA	0.522																																																	0													87	88	87					7																	151879322		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5623C>T	7.37:g.151879322G>A	ENSP00000262189:p.Gln1875*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1875*	ENST00000262189.6	37	c.5623	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.639293	0.99804	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.3	5.3	0.74995	.	0.000000	0.42682	D	0.000679	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.9258	0.88982	0.0:0.0:1.0:0.0	.	.	.	.	X	1875	.	ENSP00000262189:Q1875X	Q	-	1	0	MLL3	151510255	1.000000	0.71417	0.980000	0.43619	0.911000	0.54048	6.913000	0.75759	2.468000	0.83385	0.563000	0.77884	CAG	MLL3	-	NULL		0.522	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151879322	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151879322	G	A	151879322	4	1	13	1	0	0	0	0	0	1	0	0	9645	1299	45	1	9208	1	MLL3	7	151879322	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	451	151879322	7259341	374	1818										
HTR5A	3361	genome.wustl.edu	37	chr7	154863129	154863129	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cactctccgctgtcatctctCtggccccgctgctttttggc	8	17	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:154863129C>T	ENST00000287907.2	+	1	1096	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	174					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGTCATCTCTCTGGCCCCGCT	0.627																																																	0													91	69	77					7																	154863129		2203	4300	6503	SO:0001819	synonymous_variant	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.520C>T	7.37:g.154863129C>T			Q2M2D2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.L174	ENST00000287907.2	37	c.520	CCDS5936.1	7																																																																																			HTR5A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	HGNC	protein_coding	OTTHUMT00000322240.1	C	NM_024012		154863129	1	no_errors	ENST00000287907	ensembl	human	known	70_37	silent	SNP	0.978	T	T	154863129	C	T	154863129	2	4	13	1	0	0	0	0	0	0	0	1	7470	912	32	1		1	HTR5A	7	154863129	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2983807	154863129	4275534	375	1819										
PTPRN2	5799	genome.wustl.edu	37	chr7	157333463	157333463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcagccacggctgtcagcGcgaactcaaactgctcctgc	9	17	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:157333463G>A	ENST00000389418.4	-	23	3002	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A981V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A1021V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A969V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A960V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	998	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCTGTCAGCGCGAACTCAAA	0.652																																																	0													24	25	25					7																	157333463		2194	4288	6482	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2993C>T	7.37:g.157333463G>A	ENSP00000374069:p.Ala998Val		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A1021V	ENST00000389418.4	37	c.3062	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734981	0.69189	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	4.66	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.01076	-1.035	0.54753	D	0.999987	D;D;D;D;D	0.89917	0.995;0.996;0.995;1.0;0.996	P;P;P;D;P	0.91635	0.517;0.553;0.517;0.999;0.553	T	0.58853	-0.7563	10	0.30854	T	0.27	.	17.927	0.88986	0.0:0.0:1.0:0.0	.	1021;960;969;981;998	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	960;969;981;998;1021	ENSP00000387114:A960V;ENSP00000374064:A969V;ENSP00000374067:A981V;ENSP00000374069:A998V;ENSP00000385464:A1021V	ENSP00000374064:A969V	A	-	2	0	PTPRN2	157026224	1.000000	0.71417	0.965000	0.40720	0.803000	0.45373	8.910000	0.92685	2.307000	0.77673	0.561000	0.74099	GCG	PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			157333463	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	157333463	G	A	157333463	3	1	13	1	0	0	0	0	1	0	0	0	12838	1087	38	2	58	2	PTPRN2	7	157333463	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2470334	157333463	1805200	376	1820										
MYOM2	9172	genome.wustl.edu	37	chr8	2054351	2054351	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgtgtctgtaagtgatacaGacggagtgtcctccagtttt	11	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:2054351G>A	ENST00000262113.4	+	23	3103	c.2962G>A	c.(2962-2964)Gac>Aac	p.D988N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D413N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	988	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGTGATACAGACGGAGTGTC	0.418																																																	0													102	99	100					8																	2054351		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2962G>A	8.37:g.2054351G>A	ENSP00000262113:p.Asp988Asn		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D988N	ENST00000262113.4	37	c.2962	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767075	0.69878	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.40476	1.03;1.03	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110885	0.64402	D	0.000005	T	0.52484	0.1737	M	0.83223	2.63	0.58432	D	0.999998	P	0.47841	0.901	B	0.41946	0.371	T	0.64228	-0.6457	10	0.66056	D	0.02	.	18.9834	0.92763	0.0:0.0:1.0:0.0	.	988	P54296	MYOM2_HUMAN	N	988;413	ENSP00000262113:D988N;ENSP00000428396:D413N	ENSP00000262113:D988N	D	+	1	0	MYOM2	2041758	1.000000	0.71417	0.136000	0.22124	0.016000	0.09150	7.604000	0.82830	2.476000	0.83614	0.643000	0.83706	GAC	MYOM2	-	smart_Ig_sub,pfscan_Ig-like		0.418	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	G	NM_003970		2054351	1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2054351	G	A	2054351	3	1	13	1	0	0	0	0	1	0	0	0	10115	942	33	1	3048	1	MYOM2	8	2054351	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		2054351	144309671	377	1821										
MCPH1	79648	genome.wustl.edu	37	chr8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caatggaacagaaaattattCaaagacatttacaacacagc	5	8	1	2	rs121434305		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*|RP11-115C21.2_ENST00000606853.1_RNA|RP11-115C21.2_ENST00000500118.2_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358																																					Colon(95;1448 1467 8277 34473 35819)												0			GRCh37	CM021634	MCPH1	M	rs121434305	C	stop/SER,stop/SER,stop/SER	0,3754		0,0,1877	157	147	150	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	74,74,74	5.1	1	8	dbSNP_132	150	1,8221		0,1,4110	no	stop-gained,stop-gained,stop-gained	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,1,5987	GG,GC,CC		0.0122,0.0,0.0084	,,	25/611,25/563,25/836	6266851	1,11975	1877	4111	5988	SO:0001587	stop_gained	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.74C>G	8.37:g.6266851C>G	ENSP00000342924:p.Ser25*		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.S25*	ENST00000344683.5	37	c.74	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.350629	0.97498	0.0	1.22E-4	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5541	16.0918	0.81094	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000342924:S25X	S	+	2	0	MCPH1	6254259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.496000	0.73670	2.381000	0.81170	0.591000	0.81541	TCA	MCPH1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.358	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	C	NM_024596		6266851	1	no_errors	ENST00000344683	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	6266851	C	G	6266851	4	3	13	1	0	0	0	0	0	1	0	0	9421	838	29	1	80	1	MCPH1	8	6266851	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4212500	6266851	140097171	378	1822										
SPAG11B	10407	genome.wustl.edu	37	chr8	7320333	7320333	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggctctttccctgagttctCcgagagcctcagtggctgag	13	12	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:7320333C>G	ENST00000297498.2	-	2	276	c.110G>C	c.(109-111)gGa>gCa	p.G37A	SPAG11B_ENST00000359758.5_Missense_Mutation_p.G37A|SPAG11B_ENST00000317900.5_Missense_Mutation_p.G37A|SPAG11B_ENST00000361111.2_Missense_Mutation_p.G37A|SPAG11B_ENST00000398462.2_Missense_Mutation_p.G37A	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	37					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTGAGTTCTCCGAGAGCCTC	0.592																																																	0													17	21	20					8																	7320333		2066	4102	6168	SO:0001583	missense	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.110G>C	8.37:g.7320333C>G	ENSP00000297498:p.Gly37Ala		E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.G37A	ENST00000297498.2	37	c.110	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.812171	0.00600	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.44482	1.51;0.92;1.51	2.59	0.578	0.17391	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B;B;P;B;P	0.42203	0.007;0.008;0.649;0.341;0.773	B;B;B;B;P	0.45232	0.007;0.012;0.355;0.118;0.474	T	0.11792	-1.0573	9	0.02654	T	1	.	8.2084	0.31469	0.0:0.5068:0.4932:0.0	.	37;37;37;37;37	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	A	20;37;37;37;37;37	ENSP00000437154:G20A;ENSP00000354411:G37A;ENSP00000297498:G37A	ENSP00000297498:G37A	G	-	2	0	SPAG11B	7307743	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.427000	0.21379	0.130000	0.18549	0.461000	0.40582	GGA	SPAG11B	-	pfam_Sperm_Ag_HE2		0.592	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	C	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7320333	-1	no_errors	ENST00000398462	ensembl	human	known	70_37	missense	SNP	0.001	G	G	7320333	C	G	7320333	3	3	13	1	0	0	0	0	1	0	0	0	15007	855	30	1	609	1	SPAG11B	8	7320333	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1053482	7320333	139043689	379	1823										
RP1L1	94137	genome.wustl.edu	37	chr8	10469371	10469371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agactccagaaacaaaatccGagtggactgcaggggtgaca	12	9	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:10469371G>A	ENST00000382483.3	-	4	2460	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	746					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACAAAATCCGAGTGGACTGC	0.652																																																	0													47	55	52					8																	10469371		1997	4156	6153	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2237C>T	8.37:g.10469371G>A	ENSP00000371923:p.Ser746Leu		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S746L	ENST00000382483.3	37	c.2237	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299756	0.60195	.	.	ENSG00000183638	ENST00000382483	T	0.06608	3.28	4.61	4.61	0.57282	.	0.607950	0.12606	N	0.454287	T	0.14227	0.0344	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.11036	-1.0604	10	0.87932	D	0	-4.1552	12.807	0.57619	0.0:0.0:1.0:0.0	.	746	A6NKC6	.	L	746	ENSP00000371923:S746L	ENSP00000371923:S746L	S	-	2	0	RP1L1	10506781	0.046000	0.20272	0.042000	0.18584	0.012000	0.07955	2.167000	0.42415	2.393000	0.81446	0.462000	0.41574	TCG	RP1L1	-	NULL		0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	G			10469371	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.040	A	A	10469371	G	A	10469371	3	1	13	1	0	0	0	0	1	0	0	0	13563	1059	37	1	4969	1	RP1L1	8	10469371	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3149038	10469371	135894651	380	1824										
CTSB	1508	genome.wustl.edu	37	chr8	11704595	11704595	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaagtccgaatacacagaGaaagctccctccacggggcc	11	13	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:11704595G>A	ENST00000353047.6	-	8	1012	c.759C>T	c.(757-759)ttC>ttT	p.F253F	RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000534510.1_Silent_p.F253F|CTSB_ENST00000453527.2_Silent_p.F253F|CTSB_ENST00000345125.3_Silent_p.F253F|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000533455.1_Silent_p.F253F|CTSB_ENST00000530640.2_Silent_p.F253F|CTSB_ENST00000531089.1_Silent_p.F253F|CTSB_ENST00000434271.1_Silent_p.F253F|CTSB_ENST00000525076.1_5'Flank	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	253					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		AATACACAGAGAAAGCTCCCT	0.557																																																	0													94	86	89					8																	11704595		2203	4300	6503	SO:0001819	synonymous_variant	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.759C>T	8.37:g.11704595G>A			B3KQR5|B3KRR5|Q503A6|Q96D87	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.F253	ENST00000353047.6	37	c.759	CCDS5986.1	8																																																																																			CTSB	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.557	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSB	HGNC	protein_coding	OTTHUMT00000207586.3	G	NM_147780		11704595	-1	no_errors	ENST00000353047	ensembl	human	known	70_37	silent	SNP	0.518	A	A	11704595	G	A	11704595	2	1	13	1	0	0	0	0	0	0	0	1	4035	933	33	1		1	CTSB	8	11704595	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1235224	11704595	134659427	381	1825										
VPS37A	137492	genome.wustl.edu	37	chr8	17126424	17126424	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgttggatgagttttggaaGaatcctccagttttagctcc	10	8	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:17126424G>C	ENST00000324849.4	+	4	1049	c.375G>C	c.(373-375)aaG>aaC	p.K125N	VPS37A_ENST00000521829.1_Missense_Mutation_p.K100N|VPS37A_ENST00000324815.3_Missense_Mutation_p.K125N	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	125					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AGTTTTGGAAGAATCCTCCAG	0.313																																																	0													98	95	96					8																	17126424		2203	4297	6500	SO:0001583	missense	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.375G>C	8.37:g.17126424G>C	ENSP00000318629:p.Lys125Asn		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.K125N	ENST00000324849.4	37	c.375	CCDS6001.1	8	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407180	0.62399	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000521829	T;T	0.58797	0.31;0.36	4.6	4.6	0.57074	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.64997	1.995	0.51482	D	0.999926	P;D	0.76494	0.797;0.999	P;D	0.81914	0.532;0.995	T	0.69826	-0.5040	10	0.54805	T	0.06	-13.3808	8.4826	0.33052	0.0803:0.0:0.7657:0.154	.	100;125	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	N	125;125;100	ENSP00000318629:K125N;ENSP00000429680:K100N	ENSP00000318173:K125N	K	+	3	2	VPS37A	17170795	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.880000	0.39628	2.485000	0.83878	0.655000	0.94253	AAG	VPS37A	-	superfamily_UBQ-conjugating_enzyme/RWD		0.313	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	G	NM_152415		17126424	1	no_errors	ENST00000324849	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17126424	G	C	17126424	3	2	13	1	0	0	0	0	1	0	0	0	17236	933	33	1	389	1	VPS37A	8	17126424	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5421829	17126424	129237598	382	1826										
C8orf58	541565	genome.wustl.edu	37	chr8	22460053	22460053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcatcctctgctcagcggGatatctcccactgggacaag	9	15	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:22460053G>A	ENST00000289989.5	+	6	957	c.883G>A	c.(883-885)Gat>Aat	p.D295N	CCAR2_ENST00000521301.1_5'Flank|CCAR2_ENST00000389279.3_5'Flank|C8orf58_ENST00000409586.3_Intron|CCAR2_ENST00000308511.4_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	295										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCTCAGCGGGATATCTCCCA	0.647																																																	0													59	58	58					8																	22460053		2203	4300	6503	SO:0001583	missense	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.883G>A	8.37:g.22460053G>A	ENSP00000289989:p.Asp295Asn		B4DI44	Missense_Mutation	SNP	NULL	p.D295N	ENST00000289989.5	37	c.883	CCDS34862.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.100144|3.100144	0.56183|0.56183	.|.	.|.	ENSG00000241852|ENSG00000241852	ENST00000289989;ENST00000381191|ENST00000495957	.|.	.|.	.|.	5.14|5.14	4.06|4.06	0.47325|0.47325	.|.	0.288191|.	0.24967|.	N|.	0.034163|.	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.48877|0.48877	1.53|1.53	0.09310|0.09310	N|N	1|1	D|.	0.56746|.	0.977|.	P|.	0.55923|.	0.787|.	T|T	0.23691|0.23691	-1.0181|-1.0181	9|5	0.72032|.	D|.	0.01|.	-7.8729|-7.8729	9.4645|9.4645	0.38804|0.38804	0.1134:0.0:0.8866:0.0|0.1134:0.0:0.8866:0.0	.|.	295|.	Q8NAV2|.	CH058_HUMAN|.	N|E	295;223|140	.|.	ENSP00000289989:D295N|.	D|G	+|+	1|2	0|0	C8orf58|C8orf58	22515998|22515998	0.949000|0.949000	0.32298|0.32298	0.888000|0.888000	0.34837|0.34837	0.816000|0.816000	0.46133|0.46133	2.322000|2.322000	0.43814|0.43814	2.400000|2.400000	0.81607|0.81607	0.448000|0.448000	0.29417|0.29417	GAT|GGA	C8orf58	-	NULL		0.647	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	G	NM_001013842		22460053	1	no_errors	ENST00000289989	ensembl	human	known	70_37	missense	SNP	0.034	A	A	22460053	G	A	22460053	3	1	13	1	0	0	0	0	1	0	0	0	2438	1174	41	1	905	1	C8orf58	8	22460053	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5333629	22460053	123903969	383	1827										
RHOBTB2	23221	genome.wustl.edu	37	chr8	22862930	22862930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagatgatgtcagcgtctctCtgcgcctctgggacaccttt	10	12	4	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:22862930C>T	ENST00000251822.6	+	3	775	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Silent_p.L102L|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Silent_p.L87L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	80	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCGTCTCTCTGCGCCTCTG	0.602																																																	0													109	99	103					8																	22862930		2203	4300	6503	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.238C>T	8.37:g.22862930C>T			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.L80	ENST00000251822.6	37	c.238	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.602	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	C			22862930	1	no_errors	ENST00000251822	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22862930	C	T	22862930	2	4	13	1	0	0	0	0	0	0	0	1	13364	912	32	1		1	RHOBTB2	8	22862930	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	402877	22862930	123501092	384	1828										
C8orf80	389643	genome.wustl.edu	37	chr8	27918098	27918098	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgtcgctgatcacccagatCactgagcacttgtcaatggt	9	11	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:27918098C>G	ENST00000413272.2	-	8	1084	c.942G>C	c.(940-942)gtG>gtC	p.V314V	NUGGC_ENST00000341513.6_Silent_p.V314V	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	314					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCACCCAGATCACTGAGCACT	0.537											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53	54	53					8																	27918098		2048	4201	6249	SO:0001819	synonymous_variant	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.942G>C	8.37:g.27918098C>G		99	Q6ZP73	Silent	SNP	pfam_Dynamin_GTPase	p.V314	ENST00000413272.2	37	c.942	CCDS47833.1	8																																																																																			NUGGC	-	pfam_Dynamin_GTPase		0.537	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27918098	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	silent	SNP	0.736	G	G	27918098	C	G	27918098	2	3	13	1	0	0	0	0	0	0	0	1	2444	813	29	1		1	C8orf80	8	27918098	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5055168	27918098	118445924	385	1829										
FZD3	7976	genome.wustl.edu	37	chr8	28385334	28385334	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttttagcgatgaataaaattGaaggtgacaatattagtggc	10	3	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:28385334G>T	ENST00000240093.3	+	5	1535	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Nonsense_Mutation_p.E353*	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	353					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAATAAAATTGAAGGTGACAA	0.448																																																	0													142	139	140					8																	28385334		2203	4300	6503	SO:0001587	stop_gained	7976			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1057G>T	8.37:g.28385334G>T	ENSP00000240093:p.Glu353*		A8K615	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E353*	ENST00000240093.3	37	c.1057	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.333822	0.99140	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000240093:E353X	E	+	1	0	FZD3	28441253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	GAA	FZD3	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.448	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	HGNC	protein_coding	OTTHUMT00000219986.2	G	NM_145866		28385334	1	no_errors	ENST00000240093	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	28385334	G	T	28385334	4	4	13	1	0	0	0	0	0	1	0	0	6149	1291	45	3	1067	3	FZD3	8	28385334	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	467236	28385334	117978688	386	1830										
CHD7	55636	genome.wustl.edu	37	chr8	61774767	61774767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttttgcagaagaatgcagatGtgctgttttcctcatttcag	9	7	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:61774767G>C	ENST00000423902.2	+	36	8322	c.7843G>C	c.(7843-7845)Gtg>Ctg	p.V2615L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2615					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAATGCAGATGTGCTGTTTTC	0.338																																																	0													47	42	43					8																	61774767		1831	4079	5910	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7843G>C	8.37:g.61774767G>C	ENSP00000392028:p.Val2615Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V2615L	ENST00000423902.2	37	c.7843	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	7.605	0.673668	0.14841	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.80393	-1.37	5.56	4.69	0.59074	.	0.086624	0.46145	D	0.000309	T	0.50531	0.1621	N	0.01352	-0.895	0.33734	D	0.618531	B	0.02656	0.0	B	0.01281	0.0	T	0.54227	-0.8325	10	0.07030	T	0.85	-13.3467	10.6007	0.45365	0.1466:0.0:0.8534:0.0	.	2615	Q9P2D1	CHD7_HUMAN	L	2615	ENSP00000392028:V2615L	ENSP00000307304:V2615L	V	+	1	0	CHD7	61937321	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.400000	0.20932	1.370000	0.46153	0.650000	0.86243	GTG	CHD7	-	NULL		0.338	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61774767	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61774767	G	C	61774767	3	2	13	1	0	0	0	0	1	0	0	0	3335	1377	48	4	7981	4	CHD7	8	61774767	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	33389433	61774767	84589255	387	1831										
C8orf46	254778	genome.wustl.edu	37	chr8	67408707	67408707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaagaagagccaaaagctctCagcacctcttgaccaagaat	8	11	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:67408707C>G	ENST00000305454.3	+	2	547	c.106C>G	c.(106-108)Cag>Gag	p.Q36E	C8orf46_ENST00000521495.1_Missense_Mutation_p.Q36E|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q36E|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q36E	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	36										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAAAGCTCTCAGCACCTCTT	0.418																																																	0													149	135	140					8																	67408707		2203	4300	6503	SO:0001583	missense	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.106C>G	8.37:g.67408707C>G	ENSP00000302260:p.Gln36Glu		B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.Q36E	ENST00000305454.3	37	c.106	CCDS6191.2	8	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139118	0.56936	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	6.06	6.06	0.98353	.	0.174548	0.41396	D	0.000899	T	0.46054	0.1373	L	0.34521	1.04	0.32317	N	0.562877	P;P	0.44429	0.835;0.604	B;B	0.43889	0.435;0.197	T	0.57136	-0.7863	9	0.72032	D	0.01	-4.8668	18.8014	0.92018	0.0:1.0:0.0:0.0	.	36;36	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	E	36	.	ENSP00000302260:Q36E	Q	+	1	0	C8orf46	67571261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.994000	0.63901	2.882000	0.98803	0.655000	0.94253	CAG	C8orf46	-	NULL		0.418	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	C	NM_152765		67408707	1	no_errors	ENST00000305454	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67408707	C	G	67408707	3	3	13	1	0	0	0	0	1	0	0	0	2436	827	29	1	112	1	C8orf46	8	67408707	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5633940	67408707	78955315	388	1832										
SGK3	23678	genome.wustl.edu	37	chr8	67748022	67748022	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttgcaaaacggaaactgGatggaaaattttatgctgtc	9	6	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:67748022G>C	ENST00000396596.1	+	9	764	c.550G>C	c.(550-552)Gat>Cat	p.D184H	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.D184H|SGK3_ENST00000520976.1_Missense_Mutation_p.D184H|SGK3_ENST00000345714.4_Missense_Mutation_p.D184H|SGK3_ENST00000522398.1_Missense_Mutation_p.D184H|SGK3_ENST00000521198.2_Missense_Mutation_p.D184H	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACGGAAACTGGATGGAAAATT	0.289																																																	0													47	54	51					8																	67748022		2199	4294	6493	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.550G>C	8.37:g.67748022G>C	ENSP00000379842:p.Asp184His		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.D184H	ENST00000396596.1	37	c.550	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.138090	0.94560	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.67345	3.01;3.01;3.01;3.01;3.01;3.01;3.01;-0.26	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093021	0.64402	D	0.000001	T	0.78874	0.4352	M	0.66297	2.02	0.40733	D	0.982768	D;D	0.58970	0.984;0.962	P;P	0.58577	0.754;0.841	T	0.78247	-0.2278	9	0.48119	T	0.1	.	19.7305	0.96180	0.0:0.0:1.0:0.0	.	184;184	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	H	184;184;184;184;148;184;184;184;66;81	ENSP00000429022:D184H;ENSP00000430463:D184H;ENSP00000430256:D184H;ENSP00000430691:D184H;ENSP00000379842:D184H;ENSP00000331816:D184H;ENSP00000428529:D66H;ENSP00000429565:D81H	ENSP00000262211:D184H	D	+	1	0	SGK3	67910576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.662000	0.90505	0.650000	0.86243	GAT	SGK3	-	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		0.289	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	G			67748022	1	no_errors	ENST00000262211	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67748022	G	C	67748022	3	2	13	1	0	0	0	0	1	0	0	0	14242	1174	41	1	580	1	SGK3	8	67748022	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	339315	67748022	78616000	389	1833										
COPS5	10987	genome.wustl.edu	37	chr8	67968821	67968821	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggtactcagaaggtccttCatcaggaggtttgtagccct	11	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:67968821C>T	ENST00000357849.4	-	5	912	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Missense_Mutation_p.E134K|PPP1R42_ENST00000517834.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	198					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAAGGTCCTTCATCAGGAGGT	0.274																																																	0													79	79	79					8																	67968821		2203	4300	6503	SO:0001583	missense	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.592G>A	8.37:g.67968821C>T	ENSP00000350512:p.Glu198Lys		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E198K	ENST00000357849.4	37	c.592	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204899	0.58234	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.78801	2.425	0.80722	D	1	P;B;P	0.40398	0.605;0.159;0.716	B;B;B	0.41813	0.108;0.14;0.367	T	0.70256	-0.4922	9	0.36615	T	0.2	-2.4808	18.5779	0.91162	0.0:1.0:0.0:0.0	.	167;134;198	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	K	198;134;134	.	ENSP00000350512:E198K	E	-	1	0	COPS5	68131375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.779000	0.85648	2.454000	0.82982	0.650000	0.86243	GAA	COPS5	-	NULL		0.274	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	C			67968821	-1	no_errors	ENST00000357849	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67968821	C	T	67968821	3	4	13	1	0	0	0	0	1	0	0	0	3741	835	29	1	428	1	COPS5	8	67968821	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	220799	67968821	78395201	390	1834										
ARFGEF1	10565	genome.wustl.edu	37	chr8	68165807	68165807	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggaaggtctttactgtcattGatacctctattcatcttaat	6	8	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:68165807G>A	ENST00000262215.3	-	18	2966	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	ARFGEF1_ENST00000520381.1_Silent_p.I313I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	859					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TACTGTCATTGATACCTCTAT	0.289																																																	0													156	138	144					8																	68165807		2201	4298	6499	SO:0001819	synonymous_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2577C>T	8.37:g.68165807G>A			Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.I859	ENST00000262215.3	37	c.2577	CCDS6199.1	8																																																																																			ARFGEF1	-	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7		0.289	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	G	NM_006421		68165807	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68165807	G	A	68165807	2	1	13	1	0	0	0	0	0	0	0	1	852	1280	45	1		1	ARFGEF1	8	68165807	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	196986	68165807	78198215	391	1835										
ZFHX4	79776	genome.wustl.edu	37	chr8	77767390	77767390	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctaaaattgatctatcaagtGagaatgaattggcttctaca	7	6	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:77767390G>C	ENST00000521891.2	+	10	8681	c.8233G>C	c.(8233-8235)Gag>Cag	p.E2745Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2700Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2719Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2700Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2700					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTATCAAGTGAGAATGAATT	0.388										HNSCC(33;0.089)																																							0													69	68	68					8																	77767390		1859	4106	5965	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8233G>C	8.37:g.77767390G>C	ENSP00000430497:p.Glu2745Gln		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E2745Q	ENST00000521891.2	37	c.8233	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415978	0.25552	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.72;0.72	5.13	5.13	0.70059	.	0.000000	0.44902	U	0.000408	T	0.63271	0.2497	L	0.46157	1.445	0.80722	D	1	D;D;D	0.56968	0.962;0.978;0.978	P;P;D	0.70935	0.767;0.883;0.971	T	0.61763	-0.6996	10	0.48119	T	0.1	.	18.7617	0.91855	0.0:0.0:1.0:0.0	.	2700;2700;2745	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2745;2729;2700;2700;2719	ENSP00000430497:E2745Q;ENSP00000399605:E2700Q;ENSP00000050961:E2700Q;ENSP00000430848:E2719Q	ENSP00000050961:E2700Q	E	+	1	0	ZFHX4	77929945	1.000000	0.71417	0.980000	0.43619	0.044000	0.14063	9.657000	0.98554	2.675000	0.91044	0.555000	0.69702	GAG	ZFHX4	-	NULL		0.388	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77767390	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77767390	G	C	77767390	3	2	13	1	0	0	0	0	1	0	0	0	17665	1291	45	1	8267	1	ZFHX4	8	77767390	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9601583	77767390	68596632	392	1836										
RUNX1T1	862	genome.wustl.edu	37	chr8	92972690	92972690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaaatgagccacagtatcggGctgtgttacagccactgcag	11	10	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:92972690G>A	ENST00000523629.1	-	12	2049	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACAGTATCGGGCTGTGTTACA	0.517																																																	0													73	68	70					8																	92972690		2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1595C>T	8.37:g.92972690G>A	ENSP00000428543:p.Ala532Val		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A543V	ENST00000523629.1	37	c.1628	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779481	0.90195	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.35973	1.3;1.29;1.3;1.3;1.3;1.3;1.28;1.29	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	N	0.25426	0.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.98	D;D;D;D	0.97110	1.0;0.997;1.0;0.94	T	0.49093	-0.8975	10	0.54805	T	0.06	-17.7479	20.1802	0.98196	0.0:0.0:1.0:0.0	.	543;495;532;505	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	532;505;532;495;495;495;543;505	ENSP00000428543:A532V;ENSP00000379520:A505V;ENSP00000265814:A532V;ENSP00000353504:A495V;ENSP00000390137:A495V;ENSP00000428742:A495V;ENSP00000402257:A543V;ENSP00000430728:A505V	ENSP00000265814:A532V	A	-	2	0	RUNX1T1	93041866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GCC	RUNX1T1	-	pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		92972690	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92972690	G	A	92972690	3	1	13	1	0	0	0	0	1	0	0	0	13777	1203	42	4	223	4	RUNX1T1	8	92972690	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	15205300	92972690	53391332	393	1837										
RUNX1T1	862	genome.wustl.edu	37	chr8	93027008	93027008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccattgggtggtgagggggcGccattcaaggctgtaggaga	18	7	1	2	rs144377527		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:93027008G>A	ENST00000523629.1	-	4	721	c.267C>T	c.(265-267)ggC>ggT	p.G89G	RUNX1T1_ENST00000396218.1_Silent_p.G62G|RUNX1T1_ENST00000521553.1_Silent_p.G52G|RUNX1T1_ENST00000518844.1_Silent_p.G62G|RUNX1T1_ENST00000360348.2_Silent_p.G52G|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000436581.2_Silent_p.G100G|RUNX1T1_ENST00000265814.3_Silent_p.G89G|RUNX1T1_ENST00000422361.2_Silent_p.G52G|RUNX1T1_ENST00000520724.1_Silent_p.G52G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	89					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGAGGGGGCGCCATTCAAGG	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		16937	0		0	False		,,,				2504	0																0								G	,,,,,,,,,,,,,,	6,4400	11.4+/-27.6	0,6,2197	49	53	52		186,267,267,267,267,267,267,186,207,300,444,186,267,156,156	-1.9	1	8	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	,,,,,,,,,,,,,,	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	,,,,,,,,,,,,,,	62/578,89/605,89/605,89/605,89/605,89/605,89/605,62/578,69/585,100/616,148/664,62/578,89/605,52/568,52/568	93027008	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.267C>T	8.37:g.93027008G>A			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.G100	ENST00000523629.1	37	c.300	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93027008	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	silent	SNP	0.876	A	A	93027008	G	A	93027008	2	1	13	1	0	0	0	0	0	0	0	1	13777	1074	38	2		2	RUNX1T1	8	93027008	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	54318	93027008	53337014	394	1838										
RAD54B	25788	genome.wustl.edu	37	chr8	95390835	95390835	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatatgtacaggatatttctGaccatctctccatactctag	5	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:95390835G>C	ENST00000336148.5	-	13	2399	c.2275C>G	c.(2275-2277)Cag>Gag	p.Q759E		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	759	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGATATTTCTGACCATCTCTC	0.343								Direct reversal of damage;Homologous recombination																																									0													92	95	94					8																	95390835		2203	4300	6503	SO:0001583	missense	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2275C>G	8.37:g.95390835G>C	ENSP00000336606:p.Gln759Glu		F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q759E	ENST00000336148.5	37	c.2275	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.074737	0.94000	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.82081	-1.57	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.109676	0.64402	D	0.000005	D	0.95778	0.8626	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97450	1.0027	10	0.87932	D	0	-11.7494	19.9596	0.97236	0.0:0.0:1.0:0.0	.	759	Q9Y620	RA54B_HUMAN	E	759;431	ENSP00000336606:Q759E	ENSP00000336606:Q759E	Q	-	1	0	RAD54B	95460011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.355000	0.97087	2.726000	0.93360	0.655000	0.94253	CAG	RAD54B	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C		0.343	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	G	NM_012415		95390835	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95390835	G	C	95390835	3	2	13	1	0	0	0	0	1	0	0	0	13022	1299	45	1	469	1	RAD54B	8	95390835	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2363827	95390835	50973187	395	1839										
RAD54B	25788	genome.wustl.edu	37	chr8	95470638	95470638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctaagatcattttgtgacggGagaaaggtgttattaattgc	11	4	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:95470638G>A	ENST00000336148.5	-	3	286	c.162C>T	c.(160-162)ctC>ctT	p.L54L	RAD54B_ENST00000297592.5_Silent_p.L54L	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	54					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTGTGACGGGAGAAAGGTGT	0.279								Direct reversal of damage;Homologous recombination																																									0													86	82	84					8																	95470638		2203	4299	6502	SO:0001819	synonymous_variant	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.162C>T	8.37:g.95470638G>A			F6WBS8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L54	ENST00000336148.5	37	c.162	CCDS6262.1	8																																																																																			RAD54B	-	NULL		0.279	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	G	NM_012415		95470638	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	silent	SNP	0.000	A	A	95470638	G	A	95470638	2	1	13	1	0	0	0	0	0	0	0	1	13022	1161	41	1		1	RAD54B	8	95470638	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	79803	95470638	50893384	396	1840										
MTDH	92140	genome.wustl.edu	37	chr8	98718853	98718853	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attcacactgttaaattttaGatggtctgtcttctgctgat	7	7	4	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:98718853G>C	ENST00000336273.3	+	8	1475		c.e8-1		MTDH_ENST00000519934.1_Splice_Site	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin						lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTAAATTTTAGATGGTCTGTC	0.373																																																	0													89	89	89					8																	98718853		2203	4300	6503	SO:0001630	splice_region_variant	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1148-1G>C	8.37:g.98718853G>C			Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Splice_Site	SNP	-	e8-1	ENST00000336273.3	37	c.1148-1	CCDS6274.1	8	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595556	0.66219	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5505	0.84471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTDH	98788029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.711000	0.92665	0.655000	0.94253	.	MTDH	-	-		0.373	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	G		Intron	98718853	1	no_errors	ENST00000336273	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	98718853	G	C	98718853	5	2	13	1	0	0	0	0	0	0	1	0	9940	956	33	1	1177	1	MTDH	8	98718853	Splice_Site	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3248215	98718853	47645169	397	1841										
C8orf47	203111	genome.wustl.edu	37	chr8	99102059	99102059	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgtaacaccagaagtattgGacagaagtcagcttgtggaa	11	6	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:99102059G>C	ENST00000318528.3	+	2	1173	c.814G>C	c.(814-816)Gac>Cac	p.D272H	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		272	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AGAAGTATTGGACAGAAGTCA	0.438																																																	0													84	78	80					8																	99102059		2203	4300	6503	SO:0001583	missense	203111																														ENST00000318528.3:c.814G>C	8.37:g.99102059G>C	ENSP00000315614:p.Asp272His		G3V1K4|Q8N1L8	Missense_Mutation	SNP	NULL	p.D272H	ENST00000318528.3	37	c.814	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377972	0.42105	.	.	ENSG00000177459	ENST00000318528	T	0.30182	1.54	4.93	3.12	0.35913	.	0.844764	0.10320	N	0.688916	T	0.36468	0.0968	L	0.47716	1.5	0.09310	N	0.999998	D	0.55800	0.973	P	0.53593	0.73	T	0.13335	-1.0513	10	0.46703	T	0.11	0.001	5.8771	0.18834	0.0968:0.0:0.7138:0.1894	.	272	Q6P6B1	CH047_HUMAN	H	272	ENSP00000315614:D272H	ENSP00000315614:D272H	D	+	1	0	C8orf47	99171235	0.040000	0.19996	0.029000	0.17559	0.054000	0.15201	0.651000	0.24873	0.658000	0.30925	0.655000	0.94253	GAC	C8orf47	-	NULL		0.438	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	HGNC	protein_coding	OTTHUMT00000380465.1	G			99102059	1	no_errors	ENST00000318528	ensembl	human	known	70_37	missense	SNP	0.061	C	C	99102059	G	C	99102059	3	2	13	1	0	0	0	0	1	0	0	0	2437	1174	41	1	820	1	C8orf47	8	99102059	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	383206	99102059	47261963	398	1842										
YWHAZ	7534	genome.wustl.edu	37	chr8	101932975	101932975	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctccttgggtatccgatgtCcacaactggtaaaagaagga	10	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:101932975C>G	ENST00000395957.2	-	7	1025	c.684G>C	c.(682-684)tgG>tgC	p.W228C	YWHAZ_ENST00000457309.1_Missense_Mutation_p.W228C|YWHAZ_ENST00000521309.1_Missense_Mutation_p.W108C|YWHAZ_ENST00000395958.2_Missense_Mutation_p.W228C|YWHAZ_ENST00000395953.2_Missense_Mutation_p.W228C|YWHAZ_ENST00000395956.3_Missense_Mutation_p.W228C|YWHAZ_ENST00000395951.3_Missense_Mutation_p.W228C|YWHAZ_ENST00000522542.1_Missense_Mutation_p.W153C|YWHAZ_ENST00000353245.3_Missense_Mutation_p.W228C|YWHAZ_ENST00000522819.1_Missense_Mutation_p.W108C|YWHAZ_ENST00000395948.2_Missense_Mutation_p.W151C|YWHAZ_ENST00000419477.2_Missense_Mutation_p.W228C			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	228					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TATCCGATGTCCACAACTGGT	0.448																																																	0													67	74	72					8																	101932975		2203	4300	6503	SO:0001583	missense	7534			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"14-3-3 zeta", "14-3-3 delta"	601288	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.684G>C	8.37:g.101932975C>G	ENSP00000379287:p.Trp228Cys		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.W228C	ENST00000395957.2	37	c.684	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010929	0.75046	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.6	4.6	0.57074	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.64402	D	0.000007	D	0.89012	0.6594	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92685	0.6161	10	0.87932	D	0	.	17.828	0.88672	0.0:1.0:0.0:0.0	.	228	P63104	1433Z_HUMAN	C	228;228;228;228;228;153;108;151;108;228;151;228;228;236	ENSP00000379287:W228C;ENSP00000398599:W228C;ENSP00000379288:W228C;ENSP00000379286:W228C;ENSP00000309503:W228C;ENSP00000430072:W153C;ENSP00000429623:W108C;ENSP00000428775:W108C;ENSP00000379283:W228C;ENSP00000379278:W151C;ENSP00000379281:W228C;ENSP00000395114:W228C;ENSP00000430058:W236C	ENSP00000309503:W228C	W	-	3	0	YWHAZ	102002151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.278000	0.76064	0.580000	0.79431	TGG	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.448	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	C	NM_145690		101932975	-1	no_errors	ENST00000353245	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101932975	C	G	101932975	3	3	13	1	0	0	0	0	1	0	0	0	17537	856	30	1	57	1	YWHAZ	8	101932975	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2830916	101932975	44431047	399	1843										
UBR5	51366	genome.wustl.edu	37	chr8	103297358	103297358	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tatgaagaatttcataccgtCtgccttcaagtgttcgtaag	8	8	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:103297358C>T	ENST00000520539.1	-	40	6299	c.5693G>A	c.(5692-5694)aGa>aAa	p.R1898K	UBR5_ENST00000220959.4_Missense_Mutation_p.R1898K|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.R1892K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1898					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCATACCGTCTGCCTTCAAG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)												0													99	104	102					8																	103297358		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5693G>A	8.37:g.103297358C>T	ENSP00000429084:p.Arg1898Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R1898K	ENST00000520539.1	37	c.5693	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136883	0.77662	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.89;0.89;0.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	L	0.50333	1.59	0.58432	D	0.999995	P;P	0.44690	0.841;0.841	P;P	0.54210	0.745;0.745	T	0.48422	-0.9037	10	0.41790	T	0.15	.	19.5643	0.95386	0.0:1.0:0.0:0.0	.	1892;1898	E7EMW7;O95071	.;UBR5_HUMAN	K	1898;1898;1892	ENSP00000429084:R1898K;ENSP00000220959:R1898K;ENSP00000427819:R1892K	ENSP00000220959:R1898K	R	-	2	0	UBR5	103366534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.626000	0.83164	2.620000	0.88729	0.563000	0.77884	AGA	UBR5	-	NULL		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103297358	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103297358	C	T	103297358	3	4	13	1	0	0	0	0	1	0	0	0	16936	913	32	1	2786	1	UBR5	8	103297358	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1364383	103297358	43066664	400	1844										
SLC25A32	81034	genome.wustl.edu	37	chr8	104427124	104427124	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acgtggcggaataccgtgctCcacgccgacgacccggacgc	13	16	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:104427124C>T	ENST00000297578.4	-	1	208	c.42G>A	c.(40-42)tgG>tgA	p.W14*	DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|DCAF13_ENST00000297579.5_5'UTR|SLC25A32_ENST00000543107.1_5'UTR|DCAF13_ENST00000521971.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	14					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ATACCGTGCTCCACGCCGACG	0.692																																																	0													19	22	21					8																	104427124		2203	4299	6502	SO:0001587	stop_gained	81034			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.42G>A	8.37:g.104427124C>T	ENSP00000297578:p.Trp14*		Q96JZ6|Q96SU7	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.W14*	ENST00000297578.4	37	c.42	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.737722	0.97801	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	.	.	.	5.02	4.13	0.48395	.	0.731283	0.13936	N	0.352580	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.5849	13.4852	0.61361	0.1578:0.8422:0.0:0.0	.	.	.	.	X	14	.	ENSP00000297578:W14X	W	-	3	0	SLC25A32	104496300	0.011000	0.17503	0.967000	0.41034	0.919000	0.55068	1.126000	0.31344	1.290000	0.44636	0.655000	0.94253	TGG	SLC25A32	-	NULL		0.692	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	HGNC	protein_coding	OTTHUMT00000380290.2	C	NM_030780		104427124	-1	no_errors	ENST00000297578	ensembl	human	known	70_37	nonsense	SNP	0.397	T	T	104427124	C	T	104427124	4	4	13	1	0	0	0	0	0	1	0	0	14526	856	30	1	933	1	SLC25A32	8	104427124	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1129766	104427124	41936898	401	1845										
FER1L6	654463	genome.wustl.edu	37	chr8	125078704	125078704	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcccggaggtccactaagagGagaaagaggaccatagcaga	13	9	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:125078704G>A	ENST00000522917.1	+	27	3797	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R	FER1L6_ENST00000399018.1_Silent_p.R1197R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1197						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCACTAAGAGGAGAAAGAGGA	0.498																																																	0													230	228	229					8																	125078704		1904	4124	6028	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3591G>A	8.37:g.125078704G>A				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1197	ENST00000522917.1	37	c.3591	CCDS43767.1	8																																																																																			FER1L6	-	NULL		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		125078704	1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.357	A	A	125078704	G	A	125078704	2	1	13	1	0	0	0	0	0	0	0	1	5833	1165	41	1		1	FER1L6	8	125078704	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	20651580	125078704	21285318	402	1846										
PHF20L1	51105	genome.wustl.edu	37	chr8	133806714	133806714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcaagatgttggtccattttGagcgctggagtcatcgttat	12	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:133806714G>C	ENST00000395386.2	+	3	441	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E48Q|PHF20L1_ENST00000395376.1_Missense_Mutation_p.E48Q|PHF20L1_ENST00000395379.1_Missense_Mutation_p.E48Q|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E48Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	48	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTCCATTTTGAGCGCTGGAG	0.388																																																	0													117	108	111					8																	133806714		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.142G>C	8.37:g.133806714G>C	ENSP00000378784:p.Glu48Gln		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.E48Q	ENST00000395386.2	37	c.142	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698782	0.88830	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000522580;ENST00000395390	T;T;T;T;T;T;T;T	0.51071	0.72;0.74;0.76;1.34;0.72;0.77;0.75;1.36	5.91	5.91	0.95273	Tudor-like, plant (1);Tudor domain (1);	0.094893	0.64402	D	0.000001	T	0.64605	0.2613	L	0.48877	1.53	0.80722	D	1	D;P;D;D;D	0.89917	0.996;0.638;1.0;0.986;0.998	P;B;D;P;D	0.76575	0.889;0.345;0.988;0.844;0.94	T	0.62115	-0.6922	10	0.52906	T	0.07	-5.3975	19.29	0.94095	0.0:0.0:1.0:0.0	.	48;48;48;48;48	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	Q	48;48;48;48;48;48;48;6;48	ENSP00000378781:E48Q;ENSP00000378777:E48Q;ENSP00000355301:E48Q;ENSP00000378784:E48Q;ENSP00000324519:E48Q;ENSP00000338269:E48Q;ENSP00000378775:E48Q;ENSP00000378788:E48Q	ENSP00000324519:E48Q	E	+	1	0	PHF20L1	133875896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.411000	0.73298	2.799000	0.96334	0.650000	0.86243	GAG	PHF20L1	-	smart_Tudor,smart_Tudor-like_plant		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133806714	1	no_errors	ENST00000315808	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133806714	G	C	133806714	3	2	13	1	0	0	0	0	1	0	0	0	11856	1291	45	1	148	1	PHF20L1	8	133806714	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8728010	133806714	12557308	403	1847										
LY6H	4062	genome.wustl.edu	37	chr8	144240337	144240337	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtcctggcaccacaggccatGagctgggcagggcatgggga	17	11	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:144240337G>A	ENST00000430474.2	-	3	235	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	LY6H_ENST00000414417.2_Missense_Mutation_p.H45Y|LY6H_ENST00000342752.4_Missense_Mutation_p.H45Y	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	24					nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACAGGCCATGAGCTGGGCAG	0.667																																																	0													90	66	75					8																	144240337		2203	4300	6503	SO:0001583	missense	4062			AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.70C>T	8.37:g.144240337G>A	ENSP00000409899:p.His24Tyr		B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.H45Y	ENST00000430474.2	37	c.133	CCDS6396.1	8	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339688	0.41398	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.68903	-0.36;-0.36;-0.36	3.55	3.55	0.40652	.	0.613584	0.14640	N	0.307269	T	0.61763	0.2373	L	0.58101	1.795	0.41997	D	0.990873	B	0.22604	0.072	B	0.23018	0.043	T	0.63453	-0.6634	10	0.49607	T	0.09	-2.4883	10.9177	0.47146	0.0:0.0:1.0:0.0	.	24	O94772	LY6H_HUMAN	Y	24;45;45	ENSP00000409899:H24Y;ENSP00000342711:H45Y;ENSP00000399485:H45Y	ENSP00000342711:H45Y	H	-	1	0	LY6H	144311712	0.993000	0.37304	0.989000	0.46669	0.995000	0.86356	1.709000	0.37909	2.294000	0.77228	0.561000	0.74099	CAT	LY6H	-	NULL		0.667	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6H	HGNC	protein_coding	OTTHUMT00000337535.1	G			144240337	-1	no_errors	ENST00000342752	ensembl	human	known	70_37	missense	SNP	0.990	A	A	144240337	G	A	144240337	3	1	13	1	0	0	0	0	1	0	0	0	9120	1290	45	1	360	1	LY6H	8	144240337	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10433623	144240337	2123685	404	1848										
TSTA3	7264	genome.wustl.edu	37	chr8	144696865	144696865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgtggggaggcccattgtgGatctgcgggcgtgggagagg	21	6	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:144696865G>A	ENST00000425753.2	-	5	496	c.393C>T	c.(391-393)atC>atT	p.I131I	TSTA3_ENST00000529064.1_Silent_p.I131I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	131					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCATTGTGGATCTGCGGGC	0.657																																																	0													118	104	109					8																	144696865		2203	4300	6503	SO:0001819	synonymous_variant	7264			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.393C>T	8.37:g.144696865G>A			B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.I131	ENST00000425753.2	37	c.393	CCDS6408.1	8																																																																																			TSTA3	-	pfam_Epimerase_deHydtase		0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1	G	NM_003313		144696865	-1	no_errors	ENST00000425753	ensembl	human	known	70_37	silent	SNP	1.000	A	A	144696865	G	A	144696865	2	1	13	1	0	0	0	0	0	0	0	1	16705	1164	41	1		1	TSTA3	8	144696865	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	456528	144696865	1667157	405	1849										
SCRIB	23513	genome.wustl.edu	37	chr8	144874460	144874460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggcaggggacagggcacgctCgggtgccggtggctccggac	20	12	0	0	rs369876190		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:144874460C>T	ENST00000320476.3	-	32	4450	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K	SCRIB_ENST00000356994.2_Missense_Mutation_p.E1482K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E1401K|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1482					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGCACGCTCGGGTGCCGGT	0.761																																					Pancreas(51;966 1133 10533 14576 29674)												0								C	LYS/GLU,LYS/GLU	1,3915		0,1,1957	3	5	4		4444,4444	4.7	0.8	8		4	0,7850		0,0,3925	no	missense,missense	SCRIB	NM_015356.3,NM_182706.3	56,56	0,1,5882	TT,TC,CC		0.0,0.0255,0.0085	benign,benign	1482/1631,1482/1656	144874460	1,11765	1958	3925	5883	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4444G>A	8.37:g.144874460C>T	ENSP00000322938:p.Glu1482Lys		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E1482K	ENST00000320476.3	37	c.4444	CCDS6411.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.840734|3.840734	0.71488|0.71488	2.55E-4|2.55E-4	0.0|0.0	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533|ENST00000526832	T;T;T|.	0.44881|.	1.12;1.07;0.91|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|.	.|.	.|.	.|.	T|T	0.73776|0.73776	0.3630|0.3630	M|M	0.71581|0.71581	2.175|2.175	0.42183|0.42183	D|D	0.991698|0.991698	P;D;P|.	0.54047|.	0.923;0.964;0.954|.	B;P;B|.	0.44597|.	0.207;0.454;0.374|.	T|T	0.75139|0.75139	-0.3423|-0.3423	9|5	0.49607|.	T|.	0.09|.	.|.	16.17|16.17	0.81801|0.81801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1482;1482;1401|.	Q14160;Q14160-3;Q14160-2|.	SCRIB_HUMAN;.;.|.	K|Q	1482;1482;1401|501	ENSP00000349486:E1482K;ENSP00000322938:E1482K;ENSP00000366756:E1401K|.	ENSP00000322938:E1482K|.	E|R	-|-	1|2	0|0	SCRIB|SCRIB	144946448|144946448	1.000000|1.000000	0.71417|0.71417	0.802000|0.802000	0.32245|0.32245	0.463000|0.463000	0.32649|0.32649	7.064000|7.064000	0.76721|0.76721	2.165000|2.165000	0.68154|0.68154	0.556000|0.556000	0.70494|0.70494	GAG|CGA	SCRIB	-	NULL		0.761	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144874460	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144874460	C	T	144874460	3	4	13	1	0	0	0	0	1	0	0	0	13967	893	31	1	547	1	SCRIB	8	144874460	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	177595	144874460	1489562	406	1850										
GPAA1	8733	genome.wustl.edu	37	chr8	145139176	145139176	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgcccaaccttgacctgctCaatctcttccagaccttctg	5	17	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:145139176C>T	ENST00000355091.4	+	6	877	c.756C>T	c.(754-756)ctC>ctT	p.L252L	GPAA1_ENST00000361036.6_Silent_p.L192L|GPAA1_ENST00000527144.1_Intron	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	252					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGACCTGCTCAATCTCTTCC	0.632																																																	0													50	55	54					8																	145139176		2082	4204	6286	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.756C>T	8.37:g.145139176C>T			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L252	ENST00000355091.4	37	c.756	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	C	NM_003801		145139176	1	no_errors	ENST00000355091	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145139176	C	T	145139176	2	4	13	1	0	0	0	0	0	0	0	1	6606	813	29	1		1	GPAA1	8	145139176	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	264716	145139176	1224846	407	1851										
SHARPIN	81858	genome.wustl.edu	37	chr8	145154745	145154745	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggccaggctccctgccagctCttctgcagggtaaggaaagg	14	12	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:145154745C>G	ENST00000398712.2	-	4	956	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	174	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCCAGCTCTTCTGCAGGG	0.642																																																	0													38	42	41					8																	145154745		1983	4140	6123	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.520G>C	8.37:g.145154745C>G	ENSP00000381698:p.Glu174Gln		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E174Q	ENST00000398712.2	37	c.520	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876800	0.51801	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.35789	1.7;1.29	4.25	4.25	0.50352	.	0.218010	0.37669	N	0.001982	T	0.52757	0.1754	M	0.74881	2.28	0.52501	D	0.999957	D	0.63880	0.993	P	0.55508	0.777	T	0.60337	-0.7283	10	0.72032	D	0.01	.	14.19	0.65633	0.0:1.0:0.0:0.0	.	174	Q9H0F6	SHRPN_HUMAN	Q	174	ENSP00000381698:E174Q;ENSP00000352551:E174Q	ENSP00000352551:E174Q	E	-	1	0	SHARPIN	145226733	0.998000	0.40836	0.998000	0.56505	0.068000	0.16541	2.390000	0.44416	2.207000	0.71202	0.462000	0.41574	GAG	SHARPIN	-	NULL		0.642	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	C	NM_030974		145154745	-1	no_errors	ENST00000398712	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145154745	C	G	145154745	3	3	13	1	0	0	0	0	1	0	0	0	14297	922	32	1	663	1	SHARPIN	8	145154745	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	15569	145154745	1209277	408	1852										
ZNF16	7564	genome.wustl.edu	37	chr8	146157669	146157669	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggatttcctgacatgccatCaggtttgggctcagactgaa	12	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:146157669C>T	ENST00000276816.4	-	4	690	c.504G>A	c.(502-504)ctG>ctA	p.L168L	ZNF16_ENST00000394909.2_Silent_p.L168L	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	168	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GACATGCCATCAGGTTTGGGC	0.537																																																	0													161	155	157					8																	146157669		2203	4300	6503	SO:0001819	synonymous_variant	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.504G>A	8.37:g.146157669C>T			B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L168	ENST00000276816.4	37	c.504	CCDS6437.1	8																																																																																			ZNF16	-	NULL		0.537	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	C	NM_006958		146157669	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	silent	SNP	0.000	T	T	146157669	C	T	146157669	2	4	13	1	0	0	0	0	0	0	0	1	17768	813	29	1		1	ZNF16	8	146157669	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1002924	146157669	206353	409	1853										
TTC39B	158219	genome.wustl.edu	37	chr9	15307104	15307104	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtccgcttccagctccgctCggctgcctaagagcgccata	10	17	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:15307104C>G	ENST00000512701.2	-	1	254	c.218G>C	c.(217-219)cGa>cCa	p.R73P	TTC39B_ENST00000380850.4_Missense_Mutation_p.R73P|TTC39B_ENST00000541445.1_Missense_Mutation_p.R7P|TTC39B_ENST00000355694.2_Missense_Mutation_p.R7P|TTC39B_ENST00000297615.5_Missense_Mutation_p.R73P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	73										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAGCTCCGCTCGGCTGCCTAA	0.647																																																	0													29	24	26					9																	15307104		2202	4299	6501	SO:0001583	missense	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.218G>C	9.37:g.15307104C>G	ENSP00000422496:p.Arg73Pro		A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.R73P	ENST00000512701.2	37	c.218	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745716	0.49151	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000541445;ENST00000506891	T;T;T;T;T	0.51325	1.35;0.73;1.41;1.35;0.71	4.18	3.28	0.37604	.	.	.	.	.	T	0.32224	0.0822	L	0.29908	0.895	0.27661	N	0.947089	B;B;B;B;B	0.31680	0.254;0.165;0.335;0.165;0.165	B;B;B;B;B	0.29663	0.045;0.033;0.105;0.033;0.033	T	0.14811	-1.0459	9	0.30854	T	0.27	-1.4602	7.827	0.29322	0.0:0.8842:0.0:0.1158	.	73;73;73;7;7	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	P	73;73;7;73;7;35	ENSP00000370231:R73P;ENSP00000297615:R73P;ENSP00000347920:R7P;ENSP00000422496:R73P;ENSP00000442880:R7P	ENSP00000297615:R73P	R	-	2	0	TTC39B	15297104	0.997000	0.39634	0.991000	0.47740	0.861000	0.49209	1.233000	0.32648	1.106000	0.41623	0.313000	0.20887	CGA	TTC39B	-	NULL		0.647	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	C	NM_152574		15307104	-1	no_errors	ENST00000512701	ensembl	human	known	70_37	missense	SNP	0.998	G	G	15307104	C	G	15307104	3	3	13	1	0	0	0	0	1	0	0	0	16739	884	31	1	1931	1	TTC39B	9	15307104	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		15307104	125906327	410	1854										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18639370	18639370	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttccagacaaagagatactGagaatggctggaccactcac	9	10	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:18639370G>T	ENST00000380548.4	+	7	1134	c.795G>T	c.(793-795)ctG>ctT	p.L265L	ADAMTSL1_ENST00000380566.4_Silent_p.L265L|ADAMTSL1_ENST00000276935.6_Silent_p.L265L|ADAMTSL1_ENST00000327883.7_Silent_p.L265L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	265						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGATACTGAGAATGGCTG	0.423																																																	0													65	67	66					9																	18639370		2203	4299	6502	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.795G>T	9.37:g.18639370G>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L265	ENST00000380548.4	37	c.795	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_ADAM_spacer1		0.423	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18639370	1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18639370	G	T	18639370	2	4	13	1	0	0	0	0	0	0	0	1	274	1277	45	3		3	ADAMTSL1	9	18639370	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3332266	18639370	122574061	411	1855										
MLLT3	4300	genome.wustl.edu	37	chr9	20365705	20365705	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atggtgtgaagctggagctgGagctggagctggagctggca	19	6	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:20365705G>C	ENST00000380338.4	-	6	1449	c.1163C>G	c.(1162-1164)tCc>tGc	p.S388C	MLLT3_ENST00000380321.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S385C	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	388	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctggagctggagctggagct	0.438			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													143	133	136					9																	20365705		2203	4300	6503	SO:0001583	missense	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1163C>G	9.37:g.20365705G>C	ENSP00000369695:p.Ser388Cys		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S388C	ENST00000380338.4	37	c.1163	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088319	0.76756	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.7	5.7	0.88788	.	0.052059	0.85682	D	0.000000	T	0.78929	0.4361	M	0.74881	2.28	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70935	0.971;0.971	T	0.80350	-0.1419	9	0.87932	D	0	-8.2778	16.9321	0.86192	0.0:0.0:1.0:0.0	.	385;388	B7Z755;P42568	.;AF9_HUMAN	C	388;385;427	.	ENSP00000369695:S388C	S	-	2	0	MLLT3	20355705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.033000	0.64146	2.850000	0.98022	0.650000	0.86243	TCC	MLLT3	-	NULL		0.438	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	G	NM_004529		20365705	-1	no_errors	ENST00000380338	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20365705	G	C	20365705	3	2	13	1	0	0	0	0	1	0	0	0	9651	1174	41	1	567	1	MLLT3	9	20365705	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1726335	20365705	120847726	412	1856										
CHMP5	51510	genome.wustl.edu	37	chr9	33266018	33266018	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcccctaaggtggacagtaGagcagaatccattgacaaga	10	9	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:33266018G>C	ENST00000223500.8	+	2	217	c.80G>C	c.(79-81)aGa>aCa	p.R27T	BAG1_ENST00000379704.2_5'Flank|BAG1_ENST00000472232.3_5'Flank|CHMP5_ENST00000419016.2_Missense_Mutation_p.R27T	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	27					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GTGGACAGTAGAGCAGAATCC	0.433																																																	0													81	76	77					9																	33266018		2203	4300	6503	SO:0001583	missense	51510			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.80G>C	9.37:g.33266018G>C	ENSP00000223500:p.Arg27Thr		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	pfam_Snf7	p.R27T	ENST00000223500.8	37	c.80	CCDS6537.1	9	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882657	0.72410	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.73469	-0.75;-0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87374	0.2352	10	0.87932	D	0	-4.6058	17.0103	0.86404	0.0:0.0:1.0:0.0	.	27;27	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	T	27	ENSP00000223500:R27T;ENSP00000442725:R27T	ENSP00000223500:R27T	R	+	2	0	CHMP5	33256018	1.000000	0.71417	0.989000	0.46669	0.382000	0.30200	9.349000	0.97066	2.610000	0.88304	0.462000	0.41574	AGA	CHMP5	-	pfam_Snf7		0.433	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP5	HGNC	protein_coding	OTTHUMT00000052040.3	G	NM_016410		33266018	1	no_errors	ENST00000223500	ensembl	human	known	70_37	missense	SNP	0.998	C	C	33266018	G	C	33266018	3	2	13	1	0	0	0	0	1	0	0	0	3364	942	33	1	86	1	CHMP5	9	33266018	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12900313	33266018	107947413	413	1857										
GALT	2592	genome.wustl.edu	37	chr9	34649556	34649556	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcagagggacctcacccctGagcaggtcaggactcagaac	11	14	4	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:34649556G>T	ENST00000378842.3	+	10	1096	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	GALT_ENST00000450095.2_Nonsense_Mutation_p.E243*|IL11RA_ENST00000555003.1_5'Flank|IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	352					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCTCACCCCTGAGCAGGTCAG	0.557									Galactosemia																																								0													79	75	77					9																	34649556		2203	4300	6503	SO:0001587	stop_gained	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.1054G>T	9.37:g.34649556G>T	ENSP00000368119:p.Glu352*		B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Nonsense_Mutation	SNP	pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1	p.E352*	ENST00000378842.3	37	c.1054	CCDS6565.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.152928	0.98099	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3339	17.5529	0.87881	0.0:0.0:1.0:0.0	.	.	.	.	X	243;352	.	ENSP00000368119:E352X	E	+	1	0	GALT	34639556	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	9.268000	0.95675	2.492000	0.84095	0.561000	0.74099	GAG	GALT	-	pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1		0.557	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALT	HGNC	protein_coding	OTTHUMT00000052231.1	G	NM_000155		34649556	1	no_errors	ENST00000378842	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	34649556	G	T	34649556	4	4	13	1	0	0	0	0	0	1	0	0	6249	1291	45	3	1092	3	GALT	9	34649556	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1383538	34649556	106563875	414	1858										
RUSC2	9853	genome.wustl.edu	37	chr9	35546837	35546837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaaccccttcttgctgcagGagggtgtgggtgagccagga	15	10	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:35546837G>A	ENST00000455600.1	+	2	888	c.319G>A	c.(319-321)Gag>Aag	p.E107K	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	107						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTTGCTGCAGGAGGGTGTGGG	0.587																																																	0													96	81	86					9																	35546837		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.319G>A	9.37:g.35546837G>A	ENSP00000393922:p.Glu107Lys		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.E107K	ENST00000455600.1	37	c.319	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426077	0.43020	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.25912	1.77;1.77	5.3	4.41	0.53225	.	0.484707	0.23384	N	0.048770	T	0.19846	0.0477	L	0.29908	0.895	0.39728	D	0.971565	B	0.26635	0.155	B	0.24155	0.051	T	0.05818	-1.0862	10	0.66056	D	0.02	-3.9506	11.7571	0.51882	0.0865:0.0:0.9134:0.0	.	107	Q8N2Y8	RUSC2_HUMAN	K	107	ENSP00000355177:E107K;ENSP00000393922:E107K	ENSP00000355177:E107K	E	+	1	0	RUSC2	35536837	1.000000	0.71417	0.908000	0.35775	0.905000	0.53344	5.879000	0.69690	1.242000	0.43836	0.561000	0.74099	GAG	RUSC2	-	NULL		0.587	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35546837	1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35546837	G	A	35546837	3	1	13	1	0	0	0	0	1	0	0	0	13781	1175	41	1	321	1	RUSC2	9	35546837	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	897281	35546837	105666594	415	1859										
MAMDC2	256691	genome.wustl.edu	37	chr9	72840732	72840732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccattgatgatgttaaatttCaggcaggaccctgtggaggt	12	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:72840732C>G	ENST00000377182.4	+	13	2595	c.1978C>G	c.(1978-1980)Cag>Gag	p.Q660E	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	660	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGTTAAATTTCAGGCAGGACC	0.313																																																	0													71	73	72					9																	72840732		2203	4297	6500	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1978C>G	9.37:g.72840732C>G	ENSP00000366387:p.Gln660Glu		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.Q660E	ENST00000377182.4	37	c.1978	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434805	0.12045	.	.	ENSG00000165072	ENST00000377182	T	0.02085	4.46	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.201590	0.52532	D	0.000068	T	0.02418	0.0074	N	0.16602	0.42	0.42650	D	0.993441	B	0.23854	0.092	B	0.30316	0.114	T	0.53662	-0.8407	10	0.07030	T	0.85	-17.1329	20.6634	0.99662	0.0:1.0:0.0:0.0	.	660	Q7Z304	MAMC2_HUMAN	E	660	ENSP00000366387:Q660E	ENSP00000366387:Q660E	Q	+	1	0	MAMDC2	72030552	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	3.608000	0.54109	2.894000	0.99253	0.655000	0.94253	CAG	MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.313	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72840732	1	no_errors	ENST00000377182	ensembl	human	known	70_37	missense	SNP	0.998	G	G	72840732	C	G	72840732	3	3	13	1	0	0	0	0	1	0	0	0	9226	827	29	1	2028	1	MAMDC2	9	72840732	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	37293895	72840732	68372699	416	1860										
RMI1	80010	genome.wustl.edu	37	chr9	86617085	86617085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atttggttgtccatctgttaGagaccaaaacaggagtattt	9	6	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:86617085G>C	ENST00000325875.3	+	3	1516	c.1184G>C	c.(1183-1185)aGa>aCa	p.R395T		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	395					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATCTGTTAGAGACCAAAAC	0.289																																																	0													57	62	60					9																	86617085		2190	4280	6470	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1184G>C	9.37:g.86617085G>C	ENSP00000317039:p.Arg395Thr		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.R395T	ENST00000325875.3	37	c.1184	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	0.394	-0.921975	0.02396	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.52295	0.67;1.41	5.42	2.51	0.30379	.	0.520258	0.19187	N	0.120527	T	0.29223	0.0727	L	0.34521	1.04	0.23669	N	0.997151	B	0.11235	0.004	B	0.10450	0.005	T	0.15636	-1.0430	10	0.21540	T	0.41	7.2864	2.9033	0.05713	0.1951:0.1294:0.5424:0.1331	.	395	Q9H9A7	RMI1_HUMAN	T	395	ENSP00000402433:R395T;ENSP00000317039:R395T	ENSP00000317039:R395T	R	+	2	0	RMI1	85806905	0.981000	0.34729	0.292000	0.24919	0.081000	0.17604	1.580000	0.36547	0.320000	0.23234	-0.169000	0.13324	AGA	RMI1	-	NULL		0.289	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	G	NM_024945		86617085	1	no_errors	ENST00000325875	ensembl	human	known	70_37	missense	SNP	0.724	C	C	86617085	G	C	86617085	3	2	13	1	0	0	0	0	1	0	0	0	13425	942	33	1	1186	1	RMI1	9	86617085	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	13776353	86617085	54596346	417	1861										
AGTPBP1	23287	genome.wustl.edu	37	chr9	88307683	88307683	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaaggctcagcattgatcttCtccagttgagccaggagtcc	11	11	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:88307683C>T	ENST00000357081.3	-	3	222	c.78G>A	c.(76-78)gaG>gaA	p.E26E	AGTPBP1_ENST00000376080.1_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000376083.3_Silent_p.E26E|AGTPBP1_ENST00000376109.3_Silent_p.E78E|AGTPBP1_ENST00000376081.4_Silent_p.E26E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	26					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CATTGATCTTCTCCAGTTGAG	0.388																																																	0													126	110	115					9																	88307683		2203	4300	6503	SO:0001819	synonymous_variant	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.78G>A	9.37:g.88307683C>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.E78	ENST00000357081.3	37	c.234		9																																																																																			AGTPBP1	-	NULL		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	C	NM_015239		88307683	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	silent	SNP	1.000	T	T	88307683	C	T	88307683	2	4	13	1	0	0	0	0	0	0	0	1	400	912	32	1		1	AGTPBP1	9	88307683	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1690598	88307683	52905748	418	1862										
ASPN	54829	genome.wustl.edu	37	chr9	95219688	95219688	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aacttattgcactgtataaaGatttcttcatctttggcact	5	8	3	1	rs560931002		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:95219688G>C	ENST00000375544.3	-	8	1268	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	342					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTGTATAAAGATTTCTTCAT	0.373																																																	0													114	111	112					9																	95219688		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.1025C>G	9.37:g.95219688G>C	ENSP00000364694:p.Ser342Cys		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.S342C	ENST00000375544.3	37	c.1025		9	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545130	0.65198	.	.	ENSG00000106819	ENST00000375544	T	0.05139	3.49	4.99	4.99	0.66335	.	0.251714	0.41001	D	0.000963	T	0.15392	0.0371	L	0.47716	1.5	0.80722	D	1	P	0.43857	0.819	P	0.51866	0.682	T	0.00345	-1.1801	10	0.72032	D	0.01	.	18.7192	0.91687	0.0:0.0:1.0:0.0	.	342	Q9BXN1	ASPN_HUMAN	C	342	ENSP00000364694:S342C	ENSP00000364694:S342C	S	-	2	0	ASPN	94259509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.924000	0.63418	2.490000	0.84030	0.549000	0.68633	TCT	ASPN	-	pirsf_SLRP_I_decor/aspor/byglycan		0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	G	NM_017680		95219688	-1	no_errors	ENST00000375544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95219688	G	C	95219688	3	2	13	1	0	0	0	0	1	0	0	0	1058	942	33	1	121	1	ASPN	9	95219688	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6912005	95219688	45993743	419	1863										
IPPK	64768	genome.wustl.edu	37	chr9	95378213	95378213	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acagtctttgaataatagttGacgatcttgccgtccagttt	8	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:95378213G>C	ENST00000287996.3	-	13	1653	c.1377C>G	c.(1375-1377)gtC>gtG	p.V459V	IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Silent_p.V131V	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	459					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AATAATAGTTGACGATCTTGC	0.488																																																	0													208	155	173					9																	95378213		2203	4300	6503	SO:0001819	synonymous_variant	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1377C>G	9.37:g.95378213G>C			Q5T9F7|Q9H7V8	Silent	SNP	pfam_Ins_P5_2-kin	p.V459	ENST00000287996.3	37	c.1377	CCDS6699.1	9																																																																																			IPPK	-	NULL		0.488	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	G	NM_022755		95378213	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	silent	SNP	1.000	C	C	95378213	G	C	95378213	2	2	13	1	0	0	0	0	0	0	0	1	7821	1277	45	1		1	IPPK	9	95378213	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	158525	95378213	45835218	420	1864										
FAM22G	441457	genome.wustl.edu	37	chr9	99700769	99700769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggccaagaagcagcgagaGaggtccctgacccccaacaa	11	14	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:99700769G>C	ENST00000372322.3	+	7	1585	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	522																	AGCAGCGAGAGAGGTCCCTGA	0.637																																																	0													7	20	16					9																	99700769		416	1122	1538	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1564G>C	9.37:g.99700769G>C	ENSP00000361397:p.Glu522Gln		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.E522Q	ENST00000372322.3	37	c.1564	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	0.767	-0.767217	0.02974	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12255	2.7	1.01	-0.0926	0.13656	.	0.729515	0.12227	N	0.487832	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41360	-0.9513	8	0.26408	T	0.33	.	5.0068	0.14291	0.0:0.4595:0.5405:0.0	.	.	.	.	Q	522;371;403	ENSP00000361397:E522Q	ENSP00000361397:E522Q	E	+	1	0	FAM22G	98740590	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.191000	0.09601	-0.018000	0.14079	0.473000	0.43528	GAG	FAM22G	-	NULL		0.637	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	G	NM_001170741		99700769	1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.001	C	C	99700769	G	C	99700769	3	2	13	1	0	0	0	0	1	0	0	0	5561	943	33	1	1590	1	FAM22G	9	99700769	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4322556	99700769	41512662	421	1865										
FAM22G	441457	genome.wustl.edu	37	chr9	99700851	99700851	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggaccctcagggacagggcaGagtgcgcactggcatggcca	16	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:99700851G>C	ENST00000372322.3	+	7	1667	c.1646G>C	c.(1645-1647)aGa>aCa	p.R549T	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	549																	GGACAGGGCAGAGTGCGCACT	0.652																																																	0													46	60	56					9																	99700851		692	1591	2283	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1646G>C	9.37:g.99700851G>C	ENSP00000361397:p.Arg549Thr		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.R549T	ENST00000372322.3	37	c.1646	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	2.684	-0.274652	0.05679	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12984	2.63	1.01	-1.64	0.08318	.	1.489780	0.04137	N	0.318864	T	0.17152	0.0412	M	0.70275	2.135	0.09310	N	1	.	.	.	.	.	.	T	0.26815	-1.0092	8	0.23891	T	0.37	.	2.4685	0.04559	0.2493:0.3209:0.4298:0.0	.	.	.	.	T	549;398;430	ENSP00000361397:R549T	ENSP00000361397:R549T	R	+	2	0	FAM22G	98740672	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.086000	0.01361	-0.503000	0.06586	0.473000	0.43528	AGA	FAM22G	-	NULL		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	G	NM_001170741		99700851	1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.000	C	C	99700851	G	C	99700851	3	2	13	1	0	0	0	0	1	0	0	0	5561	942	33	1	1672	1	FAM22G	9	99700851	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	82	99700851	41512580	422	1866										
GRIN3A	116443	genome.wustl.edu	37	chr9	104499571	104499571	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggctcctctcacctgactctCccgtggaaactcgtggcgca	10	16	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:104499571C>G	ENST00000361820.3	-	1	1291	c.691G>C	c.(691-693)Gag>Cag	p.E231Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	231					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACCTGACTCTCCCGTGGAAAC	0.607																																																	0													48	43	44					9																	104499571		2203	4300	6503	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.691G>C	9.37:g.104499571C>G	ENSP00000355155:p.Glu231Gln		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.E231Q	ENST00000361820.3	37	c.691	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026581	0.19512	.	.	ENSG00000198785	ENST00000361820	D	0.86297	-2.1	5.39	4.39	0.52855	.	0.874199	0.10146	N	0.710268	T	0.74749	0.3757	N	0.14661	0.345	0.28691	N	0.904603	B	0.11235	0.004	B	0.10450	0.005	T	0.62282	-0.6887	10	0.33940	T	0.23	.	4.8765	0.13658	0.0:0.395:0.4409:0.1641	.	231	Q8TCU5	NMD3A_HUMAN	Q	231	ENSP00000355155:E231Q	ENSP00000355155:E231Q	E	-	1	0	GRIN3A	103539392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.954000	0.40362	2.515000	0.84797	0.655000	0.94253	GAG	GRIN3A	-	NULL		0.607	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	C			104499571	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104499571	C	G	104499571	3	3	13	1	0	0	0	0	1	0	0	0	6803	864	30	1	2692	1	GRIN3A	9	104499571	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4798720	104499571	36713860	423	1867										
ABCA1	19	genome.wustl.edu	37	chr9	107620810	107620810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caagtctactcaccaggattGgcttcaggatgtccatgttg	10	10	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:107620810G>A	ENST00000374736.3	-	7	1107	c.713C>T	c.(712-714)cCa>cTa	p.P238L	ABCA1_ENST00000423487.2_Missense_Mutation_p.P238L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	238					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CACCAGGATTGGCTTCAGGAT	0.468																																																	0													161	161	161					9																	107620810		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.713C>T	9.37:g.107620810G>A	ENSP00000363868:p.Pro238Leu		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P238L	ENST00000374736.3	37	c.713	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837646	0.32513	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.94457	-2.29;-3.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	L	0.41961	1.31	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	D	0.85034	0.0919	10	0.05525	T	0.97	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	238	O95477	ABCA1_HUMAN	L	238	ENSP00000363868:P238L;ENSP00000416623:P238L	ENSP00000363868:P238L	P	-	2	0	ABCA1	106660631	1.000000	0.71417	0.974000	0.42286	0.026000	0.11368	6.005000	0.70716	2.941000	0.99782	0.655000	0.94253	CCA	ABCA1	-	NULL		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107620810	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	0.993	A	A	107620810	G	A	107620810	3	1	13	1	0	0	0	0	1	0	0	0	28	1348	47	4	6248	4	ABCA1	9	107620810	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3121239	107620810	33592621	424	1868										
ZNF462	58499	genome.wustl.edu	37	chr9	109688129	109688129	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	taccattggaaaatgagacaGacagccacccctcttccagc	7	14	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:109688129G>T	ENST00000277225.5	+	3	2225	c.1936G>T	c.(1936-1938)Gac>Tac	p.D646Y	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.D646Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	646					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGAGACAGACAGCCACCC	0.463																																																	0													220	230	227					9																	109688129		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1936G>T	9.37:g.109688129G>T	ENSP00000277225:p.Asp646Tyr		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D646Y	ENST00000277225.5	37	c.1936	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513728	0.64522	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.09350	2.99;3.42	5.48	5.48	0.80851	.	0.239831	0.49305	D	0.000155	T	0.23171	0.0560	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.964	D;P	0.65874	0.939;0.65	T	0.00342	-1.1803	9	.	.	.	.	17.8902	0.88870	0.0:0.0:1.0:0.0	.	646;646	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Y	646	ENSP00000277225:D646Y;ENSP00000414570:D646Y	.	D	+	1	0	ZNF462	108727950	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.363000	0.79516	2.731000	0.93534	0.650000	0.86243	GAC	ZNF462	-	NULL		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	G	NM_021224		109688129	1	no_errors	ENST00000457913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109688129	G	T	109688129	3	4	13	1	0	0	0	0	1	0	0	0	17956	942	33	3	1942	3	ZNF462	9	109688129	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2067319	109688129	31525302	425	1869										
ACTL7B	10880	genome.wustl.edu	37	chr9	111617580	111617580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcccggcagcacgtcgccctCggatatgggcaccacgtgcg	14	16	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:111617580C>T	ENST00000374667.3	-	1	1659	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	211						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGTCGCCCTCGGATATGGGC	0.662																																																	0													45	38	40					9																	111617580		2203	4298	6501	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.631G>A	9.37:g.111617580C>T	ENSP00000363799:p.Glu211Lys		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E211K	ENST00000374667.3	37	c.631	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691089	0.68271	.	.	ENSG00000148156	ENST00000374667	D	0.95035	-3.59	4.63	3.71	0.42584	.	0.185423	0.25866	N	0.027786	D	0.95843	0.8647	M	0.85462	2.755	0.45979	D	0.998798	D	0.59357	0.985	P	0.52309	0.695	D	0.95720	0.8765	10	0.87932	D	0	.	12.2948	0.54840	0.0:0.8277:0.1723:0.0	.	211	Q9Y614	ACL7B_HUMAN	K	211	ENSP00000363799:E211K	ENSP00000363799:E211K	E	-	1	0	ACTL7B	110657401	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	4.864000	0.62990	1.130000	0.42092	0.655000	0.94253	GAG	ACTL7B	-	pfam_Actin-like,smart_Actin-like		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617580	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	0.998	T	T	111617580	C	T	111617580	3	4	13	1	0	0	0	0	1	0	0	0	201	893	31	1	620	1	ACTL7B	9	111617580	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1929451	111617580	29595851	426	1870										
ZNF483	158399	genome.wustl.edu	37	chr9	114304895	114304895	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcaattgtggaaaatccttCagtcatagctcatccctttc	6	11	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:114304895C>T	ENST00000309235.5	+	6	1838	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAATCCTTCAGTCATAGCT	0.408																																																	0													60	67	64					9																	114304895		2202	4300	6502	SO:0001819	synonymous_variant	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1680C>T	9.37:g.114304895C>T			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F560	ENST00000309235.5	37	c.1680	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	C	XM_088567		114304895	1	no_errors	ENST00000309235	ensembl	human	known	70_37	silent	SNP	0.998	T	T	114304895	C	T	114304895	2	4	13	1	0	0	0	0	0	0	0	1	17966	825	29	1		1	ZNF483	9	114304895	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2687315	114304895	26908536	427	1871										
ORM1	5004	genome.wustl.edu	37	chr9	117086070	117086070	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agaggacacgatctttctcaGagagtaccagacccggtgag	12	10	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:117086070G>C	ENST00000259396.8	+	2	320	c.242G>C	c.(241-243)aGa>aCa	p.R81T	ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	81					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	ATCTTTCTCAGAGAGTACCAG	0.537																																																	0													88	89	89					9																	117086070		2203	4300	6503	SO:0001583	missense	5004				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.242G>C	9.37:g.117086070G>C	ENSP00000259396:p.Arg81Thr		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop	p.R81T	ENST00000259396.8	37	c.242	CCDS6803.1	9	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843261	0.32606	.	.	ENSG00000229314	ENST00000259396	T	0.05717	3.4	4.77	2.5	0.30297	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.484707	0.22200	N	0.063247	T	0.17066	0.0410	M	0.68317	2.08	0.09310	N	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.02179	-1.1200	10	0.87932	D	0	-25.1517	5.213	0.15327	0.3003:0.0:0.6997:0.0	.	81	P02763	A1AG1_HUMAN	T	81	ENSP00000259396:R81T	ENSP00000259396:R81T	R	+	2	0	ORM1	116125891	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.195000	0.09546	1.135000	0.42183	0.467000	0.42956	AGA	ORM1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop		0.537	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORM1	HGNC	protein_coding	OTTHUMT00000055426.1	G			117086070	1	no_errors	ENST00000259396	ensembl	human	known	70_37	missense	SNP	0.002	C	C	117086070	G	C	117086070	3	2	13	1	0	0	0	0	1	0	0	0	11291	942	33	1	248	1	ORM1	9	117086070	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2781175	117086070	24127361	428	1872										
CEP110	11064	genome.wustl.edu	37	chr9	123858773	123858773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaaatgaaattgagcatattCcagtatggttagggaagaag	12	3	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:123858773C>T	ENST00000373855.1	+	6	813	c.553C>T	c.(553-555)Cca>Tca	p.P185S	CNTRL_ENST00000373865.2_Missense_Mutation_p.P185S|CNTRL_ENST00000238341.5_Missense_Mutation_p.P185S			Q7Z7A1	CNTRL_HUMAN	centriolin	185					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAGCATATTCCAGTATGGTT	0.323																																																	0													98	104	102					9																	123858773		2203	4299	6502	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.553C>T	9.37:g.123858773C>T	ENSP00000362962:p.Pro185Ser		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.P185S	ENST00000373855.1	37	c.553	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777667	0.90195	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.52983	0.64;0.64	5.87	5.87	0.94306	.	.	.	.	.	T	0.72510	0.3469	M	0.80183	2.485	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	T	0.74813	-0.3537	9	0.87932	D	0	.	19.2028	0.93717	0.0:1.0:0.0:0.0	.	185	Q7Z7A1	CNTRL_HUMAN	S	185	ENSP00000362962:P185S;ENSP00000238341:P185S	ENSP00000238341:P185S	P	+	1	0	CNTRL	122898594	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.198000	0.72106	2.785000	0.95823	0.591000	0.81541	CCA	CNTRL	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.323	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	C	NM_007018		123858773	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123858773	C	T	123858773	3	4	13	1	0	0	0	0	1	0	0	0	3250	855	30	1	567	1	CEP110	9	123858773	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6772703	123858773	17354658	429	1873										
RAB14	51552	genome.wustl.edu	37	chr9	123943695	123943695	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagcagccacagccttctctCtggggttggggttcactggt	13	11	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:123943695C>T	ENST00000373840.4	-	8	864	c.627G>A	c.(625-627)caG>caA	p.Q209Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	209					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCTTCTCTCTGGGGTTGGG	0.527																																																	0													110	106	107					9																	123943695		2203	4300	6503	SO:0001819	synonymous_variant	51552			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"RAB, member RAS oncogene"	16524	protein-coding gene	gene with protein product	"F protein-binding protein 1", "bA165P4.3 (member RAS oncogene family)", "small GTP binding protein RAB14"	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.627G>A	9.37:g.123943695C>T			B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q209	ENST00000373840.4	37	c.627	CCDS6827.1	9																																																																																			RAB14	-	smart_Ran_GTPase		0.527	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB14	HGNC	protein_coding	OTTHUMT00000053857.1	C	NM_016322		123943695	-1	no_errors	ENST00000373840	ensembl	human	known	70_37	silent	SNP	1.000	T	T	123943695	C	T	123943695	2	4	13	1	0	0	0	0	0	0	0	1	12930	912	32	1		1	RAB14	9	123943695	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	84922	123943695	17269736	430	1874										
ZBTB6	10773	genome.wustl.edu	37	chr9	125673272	125673272	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttttggcagtaaatgtcttCaagcacacagtacactgaaa	7	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:125673272C>T	ENST00000373659.3	-	2	1168	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TAAATGTCTTCAAGCACACAG	0.448																																																	0													97	90	92					9																	125673272		2203	4300	6503	SO:0001819	synonymous_variant	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1080G>A	9.37:g.125673272C>T			A8K8N6	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L360	ENST00000373659.3	37	c.1080	CCDS6846.1	9																																																																																			ZBTB6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	C	NM_006626		125673272	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	silent	SNP	0.966	T	T	125673272	C	T	125673272	2	4	13	1	0	0	0	0	0	0	0	1	17582	825	29	1		1	ZBTB6	9	125673272	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1729577	125673272	15540159	431	1875										
GAPVD1	26130	genome.wustl.edu	37	chr9	128112573	128112573	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tattttctactcatttttcaGagatgcaaaaaagaaactga	5	6	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:128112573G>C	ENST00000495955.1	+	22	3643		c.e22-1		GAPVD1_ENST00000394105.2_Splice_Site|GAPVD1_ENST00000470056.1_Splice_Site|GAPVD1_ENST00000394104.2_Splice_Site|GAPVD1_ENST00000394083.2_Splice_Site|GAPVD1_ENST00000312123.9_Splice_Site|GAPVD1_ENST00000297933.6_Splice_Site|GAPVD1_ENST00000265956.4_Splice_Site			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCATTTTTCAGAGATGCAAAA	0.358																																																	0													69	72	71					9																	128112573		2203	4300	6503	SO:0001630	splice_region_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3354-1G>C	9.37:g.128112573G>C			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	SNP	-	e20-1	ENST00000495955.1	37	c.3381-1		9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313828	0.81358	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3473	0.94370	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPVD1	127152394	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.380000	0.73158	2.816000	0.96949	0.561000	0.74099	.	GAPVD1	-	-		0.358	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	G		Intron	128112573	1	no_errors	ENST00000394105	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	128112573	G	C	128112573	5	2	13	1	0	0	0	0	0	0	1	0	6258	956	33	1	3458	1	GAPVD1	9	128112573	Splice_Site	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2439301	128112573	13100858	432	1876										
PBX3	5090	genome.wustl.edu	37	chr9	128697785	128697785	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acttcagtaaacaggccacaGaaatcttgaatgaatatttt	6	7	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:128697785G>T	ENST00000373489.5	+	5	758	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	PBX3_ENST00000373483.2_Nonsense_Mutation_p.E67*|PBX3_ENST00000373487.4_Nonsense_Mutation_p.E248*|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Nonsense_Mutation_p.E248*|PBX3_ENST00000447726.2_Nonsense_Mutation_p.E173*	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	248					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ACAGGCCACAGAAATCTTGAA	0.423																																																	0													116	105	109					9																	128697785		2203	4300	6503	SO:0001587	stop_gained	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.742G>T	9.37:g.128697785G>T	ENSP00000362588:p.Glu248*		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Nonsense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E248*	ENST00000373489.5	37	c.742	CCDS6865.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.09|18.09	3.546818|3.546818	0.65198|0.65198	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998|ENST00000428092	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76428	.|0.3986	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74839	.|-0.3528	.|3	0.48119|.	T|.	0.1|.	.|.	19.5338|19.5338	0.95240|0.95240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	67;248;248;248;67;67;173;159|168	.|.	ENSP00000341990:E248X|.	E|R	+|+	1|2	0|0	PBX3|PBX3	127737606|127737606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.692000|2.692000	0.91855|0.91855	0.557000|0.557000	0.71058|0.71058	GAA|AGA	PBX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.423	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128697785	1	no_errors	ENST00000373489	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	128697785	G	T	128697785	4	4	13	1	0	0	0	0	0	1	0	0	11518	943	33	3	760	3	PBX3	9	128697785	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	585212	128697785	12515646	433	1877										
TOR2A	27433	genome.wustl.edu	37	chr9	130496650	130496650	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggtgcacgcgggggctgcgGaggccgccctggaagaggta	20	10	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:130496650G>C	ENST00000373284.5	-	2	391	c.345C>G	c.(343-345)ctC>ctG	p.L115L	TOR2A_ENST00000336067.6_Silent_p.L115L|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373281.5_Silent_p.L115L	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	115					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						GGGGGCTGCGGAGGCCGCCCT	0.662											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	39	37					9																	130496650		2203	4299	6502	SO:0001819	synonymous_variant	27433			AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.345C>G	9.37:g.130496650G>C		1580	A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Silent	SNP	pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr,prints_Chaprnin_ClpA/B	p.L115	ENST00000373284.5	37	c.345	CCDS43879.1	9																																																																																			TOR2A	-	pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr		0.662	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR2A	HGNC	protein_coding	OTTHUMT00000054205.1	G	NM_130459		130496650	-1	no_errors	ENST00000373284	ensembl	human	known	70_37	silent	SNP	0.996	C	C	130496650	G	C	130496650	2	2	13	1	0	0	0	0	0	0	0	1	16406	1161	41	1		1	TOR2A	9	130496650	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1798865	130496650	10716781	434	1878										
GOLGA2	2801	genome.wustl.edu	37	chr9	131023839	131023839	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttgtctaaccgactccattAcctgcaagaatggccacaga	8	12	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131023839A>C	ENST00000421699.2	-	15	1157	c.1145T>G	c.(1144-1146)gTa>gGa	p.V382G	GOLGA2_ENST00000609374.1_Splice_Site_p.V370G	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	382					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGACTCCATTACCTGCAAGAA	0.507																																																	0													99	103	102					9																	131023839		2203	4300	6503	SO:0001630	splice_region_variant	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1144-1T>G	9.37:g.131023839A>C			Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.V382G	ENST00000421699.2	37	c.1145	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	a	19.85	3.904599	0.72868	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.25250	1.81;1.81	5.3	5.3	0.74995	.	0.151177	0.45867	D	0.000325	T	0.22360	0.0539	L	0.38175	1.15	0.41880	D	0.990313	B	0.31026	0.304	B	0.25140	0.058	T	0.04522	-1.0945	10	0.72032	D	0.01	.	15.2476	0.73517	1.0:0.0:0.0:0.0	.	382	Q08379	GOGA2_HUMAN	G	382;409	ENSP00000416097:V382G;ENSP00000409271:V409G	ENSP00000416097:V382G	V	-	2	0	GOLGA2	130063660	1.000000	0.71417	0.133000	0.22050	0.423000	0.31445	6.568000	0.73987	2.001000	0.58596	0.254000	0.18369	GTA	GOLGA2	-	NULL		0.507	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	A	NM_004486	Missense_Mutation	131023839	-1	no_errors	ENST00000421699	ensembl	human	known	70_37	missense	SNP	0.996	C	C	131023839	A	C	131023839	5	2	13	1	0	0	0	0	0	0	1	0	6571	405	14	5	1911	5	GOLGA2	9	131023839	Splice_Site	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	527189	131023839	10189592	435	1879										
SPTAN1	6709	genome.wustl.edu	37	chr9	131356479	131356479	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attctctgctggaactgggtGagaagcgtaaaggcatgttg	14	6	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131356479G>A	ENST00000372731.4	+	24	3351	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1081K|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1081K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1081					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAACTGGGTGAGAAGCGTAA	0.448																																					NSCLC(120;833 1744 2558 35612 37579)												0													130	119	123					9																	131356479		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3241G>A	9.37:g.131356479G>A	ENSP00000361816:p.Glu1081Lys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E1081K	ENST00000372731.4	37	c.3241	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	g	34	5.378921	0.95945	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.35421	1.31;1.31;1.31	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.39147	1.195	0.80722	D	1	P;P;B;D;P	0.56035	0.956;0.956;0.132;0.974;0.956	P;P;B;D;D	0.70487	0.899;0.899;0.039;0.969;0.931	T	0.31668	-0.9935	10	0.33141	T	0.24	.	19.2718	0.94013	0.0:0.0:1.0:0.0	.	1081;1061;1061;1081;1081	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	1081;1081;1081;1061	ENSP00000350882:E1081K;ENSP00000361816:E1081K;ENSP00000361824:E1081K	ENSP00000350882:E1081K	E	+	1	0	SPTAN1	130396300	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	9.213000	0.95133	2.789000	0.95967	0.651000	0.88453	GAG	SPTAN1	-	smart_Spectrin/alpha-actinin		0.448	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131356479	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131356479	G	A	131356479	3	1	13	1	0	0	0	0	1	0	0	0	15147	1291	45	1	3331	1	SPTAN1	9	131356479	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	332640	131356479	9856952	436	1880										
LRRC8A	56262	genome.wustl.edu	37	chr9	131671153	131671153	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatgtgggcgtgcacctgcaGaagctgtccatcaacaatga	12	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131671153G>A	ENST00000259324.5	+	3	2233	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	LRRC8A_ENST00000372600.4_Silent_p.Q570Q|LRRC8A_ENST00000372599.3_Silent_p.Q570Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	570					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCACCTGCAGAAGCTGTCCA	0.587																																																	0													84	70	75					9																	131671153		2203	4300	6503	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1710G>A	9.37:g.131671153G>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q570	ENST00000259324.5	37	c.1710	CCDS35155.1	9																																																																																			LRRC8A	-	NULL		0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	G	NM_019594		131671153	1	no_errors	ENST00000259324	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131671153	G	A	131671153	2	1	13	1	0	0	0	0	0	0	0	1	9044	933	33	1		1	LRRC8A	9	131671153	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	314674	131671153	9542278	437	1881										
ABL1	25	genome.wustl.edu	37	chr9	133730462	133730462	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agggtgtaccattacaggatCaacactgcttctgatggcaa	10	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:133730462C>T	ENST00000318560.5	+	3	909	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	176	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ATTACAGGATCAACACTGCTT	0.572			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													85	78	80					9																	133730462		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.528C>T	9.37:g.133730462C>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.I195	ENST00000318560.5	37	c.585	CCDS35166.1	9																																																																																			ABL1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.572	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133730462	1	no_errors	ENST00000372348	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133730462	C	T	133730462	2	4	13	1	0	0	0	0	0	0	0	1	92	816	29	1		1	ABL1	9	133730462	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2059309	133730462	7482969	438	1882										
CEL	1056	genome.wustl.edu	37	chr9	135946536	135946536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	accctcacctatctggcgctGcccacagtgaccgaccagga	9	17	2	1	rs373048848		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:135946536G>A	ENST00000372080.4	+	11	1672	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CEL_ENST00000351304.7_Silent_p.L483L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	549					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCTGGCGCTGCCCACAGTGA	0.672																																																	0								G		0,3886		0,0,1943	23	28	27		1656	2	0.9	9		27	11,8241		0,11,4115	no	coding-synonymous	CEL	NM_001807.3		0,11,6058	AA,AG,GG		0.1333,0.0,0.0906		552/757	135946536	11,12127	1943	4126	6069	SO:0001819	synonymous_variant	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1656G>A	9.37:g.135946536G>A			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.L552	ENST00000372080.4	37	c.1656	CCDS43896.1	9																																																																																			CEL	-	NULL		0.672	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	G			135946536	1	no_errors	ENST00000372080	ensembl	human	known	70_37	silent	SNP	0.972	A	A	135946536	G	A	135946536	2	1	13	1	0	0	0	0	0	0	0	1	3214	1306	46	4		4	CEL	9	135946536	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2216074	135946536	5266895	439	1883										
TMEM8C	389827	genome.wustl.edu	37	chr9	136385318	136385318	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcagcgagacccacatgctCagggctgtcccgtagacact	10	14	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:136385318C>G	ENST00000339996.3	-	2	329	c.228G>C	c.(226-228)ctG>ctC	p.L76L	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	76					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CCCACATGCTCAGGGCTGTCC	0.597																																																	0													117	97	103					9																	136385318		2203	4300	6503	SO:0001819	synonymous_variant	389827			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.228G>C	9.37:g.136385318C>G				Silent	SNP	pfam_DUF3522	p.L76	ENST00000339996.3	37	c.228	CCDS35170.1	9																																																																																			TMEM8C	-	pfam_DUF3522		0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	C	NM_001080483		136385318	-1	no_errors	ENST00000339996	ensembl	human	known	70_37	silent	SNP	0.998	G	G	136385318	C	G	136385318	2	3	13	1	0	0	0	0	0	0	0	1	16246	813	29	1		1	TMEM8C	9	136385318	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	438782	136385318	4828113	440	1884										
KIAA0649	9858	genome.wustl.edu	37	chr9	138379815	138379815	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggaaggcacaggcagggctGagtttgcatgacaggaggag	18	6	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:138379815G>C	ENST00000356818.2	+	4	4008	c.3459G>C	c.(3457-3459)ctG>ctC	p.L1153L	PPP1R26_ENST00000604351.1_Silent_p.L1153L|PPP1R26_ENST00000401470.3_Silent_p.L1153L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.L1153L|PPP1R26_ENST00000605286.1_Silent_p.L1153L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1153					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGGCAGGGCTGAGTTTGCATG	0.622																																																	0													36	31	33					9																	138379815		2203	4300	6503	SO:0001819	synonymous_variant	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3459G>C	9.37:g.138379815G>C			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.L1153	ENST00000356818.2	37	c.3459	CCDS6988.1	9																																																																																			PPP1R26	-	NULL		0.622	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	G	NM_014811		138379815	1	no_errors	ENST00000356818	ensembl	human	known	70_37	silent	SNP	0.000	C	C	138379815	G	C	138379815	2	2	13	1	0	0	0	0	0	0	0	1	8207	1277	45	1		1	KIAA0649	9	138379815	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1994497	138379815	2833616	441	1885										
TUBB2C	10383	genome.wustl.edu	37	chr9	140137904	140137904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatggagttcaccgaggccGagagcaacatgaatgacctg	13	9	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140137904G>A	ENST00000340384.4	+	4	1382	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	412					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	CACCGAGGCCGAGAGCAACAT	0.627																																																	0													102	98	99					9																	140137904		2203	4298	6501	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1234G>A	9.37:g.140137904G>A	ENSP00000341289:p.Glu412Lys		A2BFA2|P05217	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E412K	ENST00000340384.4	37	c.1234	CCDS7039.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094186	0.76870	.	.	ENSG00000188229	ENST00000340384	T	0.74842	-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89509	0.3770	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	412	P68371	TBB4B_HUMAN	K	412	ENSP00000341289:E412K	ENSP00000341289:E412K	E	+	1	0	TUBB2C	139257725	1.000000	0.71417	0.979000	0.43373	0.899000	0.52679	7.835000	0.86780	2.625000	0.88918	0.655000	0.94253	GAG	TUBB4B	-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin		0.627	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4B	HGNC	protein_coding	OTTHUMT00000254715.1	G	NM_006088		140137904	1	no_errors	ENST00000340384	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140137904	G	A	140137904	3	1	13	1	0	0	0	0	1	0	0	0	16787	1059	37	1	1248	1	TUBB2C	9	140137904	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1758089	140137904	1075527	442	1886										
PNPLA7	375775	genome.wustl.edu	37	chr9	140400156	140400156	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agggtctcatccgtgtgactCtctgagtgctgggagaccgt	14	10	2	3	rs147554482		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140400156C>T	ENST00000277531.4	-	13	1494	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	PNPLA7_ENST00000406427.1_Silent_p.E461E|PNPLA7_ENST00000371457.1_Silent_p.E42E	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	436				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.S435fs(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGTGTGACTCTCTGAGTGCT	0.562																																																	2	Complex(2)	central_nervous_system(2)											172	153	159					9																	140400156		2203	4300	6503	SO:0001819	synonymous_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1308G>A	9.37:g.140400156C>T			B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E461	ENST00000277531.4	37	c.1383	CCDS7045.1	9																																																																																			PNPLA7	-	NULL		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	C	NM_152286		140400156	-1	no_errors	ENST00000406427	ensembl	human	known	70_37	silent	SNP	0.002	T	T	140400156	C	T	140400156	2	4	13	1	0	0	0	0	0	0	0	1	12194	912	32	1		1	PNPLA7	9	140400156	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	262252	140400156	813275	443	1887										
C9orf37	85026	genome.wustl.edu	37	chr9	140510342	140510342	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttctgtggaacagcatttctCaaaggggcatcctgcagacg	11	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140510342C>G	ENST00000371417.3	-	3	850	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		104										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAGCATTTCTCAAAGGGGCAT	0.622																																																	0													62	64	63					9																	140510342		2203	4300	6503	SO:0001583	missense	85026																														ENST00000371417.3:c.310G>C	9.37:g.140510342C>G	ENSP00000360471:p.Glu104Gln		Q17RM5|Q5T368	Missense_Mutation	SNP	NULL	p.E104Q	ENST00000371417.3	37	c.310	CCDS35189.1	9	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046141	0.36085	.	.	ENSG00000203993	ENST00000371417	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.33288	0.406	B	0.31547	0.132	T	0.13872	-1.0493	8	0.29301	T	0.29	.	6.9832	0.24713	0.0:1.0:0.0:0.0	.	104	Q9H2J1	CI037_HUMAN	Q	104	.	ENSP00000360471:E104Q	E	-	1	0	C9orf37	139630163	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	0.022000	0.13511	1.291000	0.44653	0.456000	0.33151	GAG	C9orf37	-	NULL		0.622	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf37	HGNC	protein_coding	OTTHUMT00000055328.1	C			140510342	-1	no_errors	ENST00000371417	ensembl	human	known	70_37	missense	SNP	0.036	G	G	140510342	C	G	140510342	3	3	13	1	0	0	0	0	1	0	0	0	2484	835	29	1	224	1	C9orf37	9	140510342	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	110186	140510342	703089	444	1888										
AKR1C1	1645	genome.wustl.edu	37	chr10	5014915	5014915	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcctggccaagagctacaatGagcagcgcatcagacagaac	10	12	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:5014915G>C	ENST00000380872.4	+	7	1012	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.E274Q	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	274					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.E274K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GAGCTACAATGAGCAGCGCAT	0.582																																					Colon(130;2054 2316 13360 15380)												1	Substitution - Missense(1)	breast(1)											58	52	54					10																	5014915		2202	4298	6500	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.820G>C	10.37:g.5014915G>C	ENSP00000370254:p.Glu274Gln		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E274Q	ENST00000380872.4	37	c.820	CCDS7061.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.460|6.460	0.452941|0.452941	0.12283|0.12283	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872|ENST00000442997	T;T|.	0.51574|.	0.7;0.7|.	1.98|1.98	0.0689|0.0689	0.14371|0.14371	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);|.	0.447919|.	0.20468|.	N|.	0.091750|.	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.31065|0.31065	0.9|0.9	0.19945|0.19945	N|N	0.999944|0.999944	B|.	0.26120|.	0.142|.	B|.	0.28465|.	0.09|.	T|T	0.24584|0.24584	-1.0156|-1.0156	10|5	0.49607|.	T|.	0.09|.	.|.	3.0759|3.0759	0.06246|0.06246	0.2807:0.2377:0.4815:0.0|0.2807:0.2377:0.4815:0.0	.|.	274|.	Q04828|.	AK1C1_HUMAN|.	Q|I	274|240	ENSP00000412248:E274Q;ENSP00000370254:E274Q|.	ENSP00000370254:E274Q|.	E|M	+|+	1|3	0|0	AKR1C1|AKR1C1	5004915|5004915	0.113000|0.113000	0.22115|0.22115	0.145000|0.145000	0.22337|0.22337	0.541000|0.541000	0.35023|0.35023	1.990000|1.990000	0.40717|0.40717	0.010000|0.010000	0.14839|0.14839	0.313000|0.313000	0.20887|0.20887	GAG|ATG	AKR1C1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.582	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	G	NM_001353		5014915	1	no_errors	ENST00000380872	ensembl	human	known	70_37	missense	SNP	0.331	C	C	5014915	G	C	5014915	3	2	13	1	0	0	0	0	1	0	0	0	469	1291	45	1	846	1	AKR1C1	10	5014915	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		5014915	130519832	445	1889										
KIN	22944	genome.wustl.edu	37	chr10	7805709	7805709	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aacaatagcctttttcttatGatatttctctcccagtttct	3	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:7805709G>A	ENST00000379562.4	-	10	942	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	KIN_ENST00000535925.1_Missense_Mutation_p.H299Y|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.H193Y	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TTTTTCTTATGATATTTCTCT	0.303																																																	0													169	151	157					10																	7805709		2201	4299	6500	SO:0001583	missense	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.895C>T	10.37:g.7805709G>A	ENSP00000368881:p.His299Tyr			Missense_Mutation	SNP	pfam_DNA/RNA-bd_Kin17_cons_domain	p.H299Y	ENST00000379562.4	37	c.895	CCDS7080.1	10	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456890	0.01071	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.0	4.09	0.47781	.	0.105873	0.64402	N	0.000004	T	0.07234	0.0183	N	0.00047	-2.435	0.49389	D	0.99978	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.34527	-0.9825	9	0.02654	T	1	-19.6607	9.0502	0.36372	0.1727:0.0:0.8273:0.0	.	193;299;299	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	Y	299;299;193	.	ENSP00000368881:H299Y	H	-	1	0	KIN	7845715	1.000000	0.71417	0.995000	0.50966	0.313000	0.28021	3.799000	0.55529	1.238000	0.43771	0.655000	0.94253	CAT	KIN	-	NULL		0.303	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2	G	NM_012311		7805709	-1	no_errors	ENST00000379562	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7805709	G	A	7805709	3	1	13	1	0	0	0	0	1	0	0	0	8335	1290	45	1	302	1	KIN	10	7805709	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2790794	7805709	127729038	446	1890										
UCMA	221044	genome.wustl.edu	37	chr10	13264126	13264126	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtgtggtggcggttgtagaGataggatgggtgcaggccgt	21	4	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:13264126G>A	ENST00000378681.3	-	5	466	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	UCMA_ENST00000463405.2_Missense_Mutation_p.L110F	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	132					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CGGTTGTAGAGATAGGATGGG	0.582																																																	0													130	114	120					10																	13264126		2203	4300	6503	SO:0001583	missense	221044			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.394C>T	10.37:g.13264126G>A	ENSP00000367952:p.Leu132Phe			Missense_Mutation	SNP	NULL	p.L132F	ENST00000378681.3	37	c.394	CCDS31147.1	10	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689196	0.48097	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.224065	0.38217	N	0.001777	T	0.76018	0.3929	M	0.61703	1.905	0.37437	D	0.914275	D	0.89917	1.0	D	0.72625	0.978	T	0.80063	-0.1539	9	0.52906	T	0.07	-4.9674	15.5703	0.76330	0.0:0.0:1.0:0.0	.	132	Q8WVF2	UCMA_HUMAN	F	132	.	ENSP00000367952:L132F	L	-	1	0	UCMA	13304132	0.998000	0.40836	0.998000	0.56505	0.244000	0.25665	1.202000	0.32271	2.412000	0.81896	0.448000	0.29417	CTC	UCMA	-	NULL		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2	G	NM_145314		13264126	-1	no_errors	ENST00000378681	ensembl	human	known	70_37	missense	SNP	0.997	A	A	13264126	G	A	13264126	3	1	13	1	0	0	0	0	1	0	0	0	16957	942	33	1	26	1	UCMA	10	13264126	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5458417	13264126	122270621	447	1891										
ARMC3	219681	genome.wustl.edu	37	chr10	23270566	23270566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctaaaaagtgacaatgaagAggtacgggaagcagcagctc	13	7	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:23270566A>T	ENST00000298032.5	+	10	1196	c.1112A>T	c.(1111-1113)gAg>gTg	p.E371V	ARMC3_ENST00000409049.3_Missense_Mutation_p.E371V|ARMC3_ENST00000376528.4_Missense_Mutation_p.E108V|ARMC3_ENST00000409983.3_Missense_Mutation_p.E371V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	371						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACAATGAAGAGGTACGGGAA	0.433																																																	0													96	83	87					10																	23270566		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1112A>T	10.37:g.23270566A>T	ENSP00000298032:p.Glu371Val		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E371V	ENST00000298032.5	37	c.1112	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585504	0.66105	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.66995	-0.24;-0.24;1.23;2.19	5.25	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.302801	0.35936	N	0.002886	T	0.81202	0.4773	M	0.77486	2.375	0.53688	D	0.999979	B;D	0.76494	0.199;0.999	B;D	0.70227	0.124;0.968	T	0.82999	-0.0178	10	0.52906	T	0.07	-27.2007	15.1784	0.72934	1.0:0.0:0.0:0.0	.	371;371	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	371;371;307;371;108	ENSP00000298032:E371V;ENSP00000386943:E371V;ENSP00000387288:E371V;ENSP00000365711:E108V	ENSP00000298032:E371V	E	+	2	0	ARMC3	23310572	1.000000	0.71417	0.030000	0.17652	0.433000	0.31745	5.243000	0.65395	1.981000	0.57761	0.459000	0.35465	GAG	ARMC3	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.433	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	A	NM_173081		23270566	1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.908	T	T	23270566	A	T	23270566	3	4	13	1	0	0	0	0	1	0	0	0	953	304	11	5	1146	5	ARMC3	10	23270566	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	10006440	23270566	112264181	448	1892										
ARMC3	219681	genome.wustl.edu	37	chr10	23326324	23326324	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggggcctccccgctcctgaGatgtacgtgattgacctcat	12	13	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:23326324G>C	ENST00000298032.5	+	19	2619	c.2535G>C	c.(2533-2535)gaG>gaC	p.E845D	ARMC3_ENST00000376528.4_Missense_Mutation_p.E582D|ARMC3_ENST00000409983.3_Missense_Mutation_p.E838D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	845						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGCTCCTGAGATGTACGTGA	0.512																																																	0													105	96	99					10																	23326324		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2535G>C	10.37:g.23326324G>C	ENSP00000298032:p.Glu845Asp		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E845D	ENST00000298032.5	37	c.2535	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628909	0.28978	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.39229	1.09;1.1;2.33	5.68	-11.4	0.00090	.	1.111380	0.06865	N	0.799770	T	0.19967	0.0480	L	0.28192	0.835	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.11329	0.006;0.006	T	0.12426	-1.0548	10	0.37606	T	0.19	-17.021	3.3865	0.07273	0.413:0.3282:0.1746:0.0843	.	838;845	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	845;838;582	ENSP00000298032:E845D;ENSP00000386943:E838D;ENSP00000365711:E582D	ENSP00000298032:E845D	E	+	3	2	ARMC3	23366330	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.121000	0.03270	-2.540000	0.00486	-0.211000	0.12701	GAG	ARMC3	-	NULL		0.512	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	G	NM_173081		23326324	1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.000	C	C	23326324	G	C	23326324	3	2	13	1	0	0	0	0	1	0	0	0	953	933	33	1	2605	1	ARMC3	10	23326324	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	55758	23326324	112208423	449	1893										
ANKRD26	22852	genome.wustl.edu	37	chr10	27302020	27302020	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagaagtttggtgttgacctCtgctagcctctcattagttc	9	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:27302020C>T	ENST00000376087.4	-	32	4909	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1139K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1598K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1581					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTGTTGACCTCTGCTAGCCTC	0.408																																																	0													87	86	86					10																	27302020		1908	4121	6029	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4744G>A	10.37:g.27302020C>T	ENSP00000365255:p.Glu1582Lys		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E1598K	ENST00000376087.4	37	c.4792	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632375|4.632375	0.87660|0.87660	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	T;T;T|.	0.36340|.	1.26;1.26;1.26|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|.	.|.	.|.	.|.	T|T	0.58337|0.58337	0.2115|0.2115	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	0.999996|0.999996	D;D;D|.	0.76494|.	0.982;0.986;0.999|.	P;P;D|.	0.77004|.	0.767;0.85;0.989|.	T|T	0.52230|0.52230	-0.8603|-0.8603	9|5	0.66056|.	D|.	0.02|.	.|.	12.8801|12.8801	0.58012|0.58012	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1582;1581;1598|.	Q9UPS8-3;Q9UPS8;A1L497|.	.;ANR26_HUMAN;.|.	K|K	1139;1582;1598|69	ENSP00000365238:E1139K;ENSP00000365255:E1582K;ENSP00000405112:E1598K|.	ENSP00000365238:E1139K|.	E|R	-|-	1|2	0|0	ANKRD26|ANKRD26	27342026|27342026	1.000000|1.000000	0.71417|0.71417	0.018000|0.018000	0.16275|0.16275	0.798000|0.798000	0.45092|0.45092	3.533000|3.533000	0.53561|0.53561	2.102000|2.102000	0.63906|0.63906	0.313000|0.313000	0.20887|0.20887	GAG|AGA	ANKRD26	-	pfam_DUF3496		0.408	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27302020	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.170	T	T	27302020	C	T	27302020	3	4	13	1	0	0	0	0	1	0	0	0	654	922	32	1	400	1	ANKRD26	10	27302020	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3975696	27302020	108232727	450	1894										
ZEB1	6935	genome.wustl.edu	37	chr10	31815698	31815698	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attctggagaaaagccctatCaatgtgacaaatgtggaaag	10	6	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:31815698C>T	ENST00000320985.10	+	9	2991	c.2881C>T	c.(2881-2883)Caa>Taa	p.Q961*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.Q962*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.Q941*|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.Q945*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.Q894*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	961					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCCCTATCAATGTGACAA	0.403																																					Ovarian(40;423 959 14296 36701 49589)												0													102	90	94					10																	31815698		2203	4300	6503	SO:0001587	stop_gained	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2881C>T	10.37:g.31815698C>T	ENSP00000319248:p.Gln961*		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.Q962*	ENST00000320985.10	37	c.2884	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.266983	0.98175	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.	.	.	5.24	5.24	0.73138	.	0.483231	0.19479	N	0.113279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.3988	18.822	0.92100	0.0:1.0:0.0:0.0	.	.	.	.	X	743;961;962;956;894;961;941;852;945	.	ENSP00000319248:Q961X	Q	+	1	0	ZEB1	31855704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.470000	0.83445	0.585000	0.79938	CAA	ZEB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	C	NM_030751		31815698	1	no_errors	ENST00000361642	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	31815698	C	T	31815698	4	4	13	1	0	0	0	0	0	1	0	0	17653	827	29	1	2929	1	ZEB1	10	31815698	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4513678	31815698	103719049	451	1895										
CUL2	8453	genome.wustl.edu	37	chr10	35338621	35338621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagcactcactttttgatttCtcggagcagcattcggataa	8	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:35338621C>G	ENST00000374748.1	-	7	809	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	CUL2_ENST00000537177.1_Missense_Mutation_p.E185Q|CUL2_ENST00000602371.1_Missense_Mutation_p.E109Q|CUL2_ENST00000374749.3_Missense_Mutation_p.E166Q|CUL2_ENST00000374751.3_Missense_Mutation_p.E166Q|CUL2_ENST00000374746.1_Missense_Mutation_p.E166Q|CUL2_ENST00000374742.1_Missense_Mutation_p.E166Q			Q13617	CUL2_HUMAN	cullin 2	166					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTTTGATTTCTCGGAGCAGC	0.393																																																	0													75	72	73					10																	35338621		2203	4300	6503	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.496G>C	10.37:g.35338621C>G	ENSP00000363880:p.Glu166Gln		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E185Q	ENST00000374748.1	37	c.553	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888946	0.52014	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.16368	0.405	0.80722	D	1	P;P	0.43352	0.767;0.804	B;P	0.45913	0.363;0.497	T	0.02104	-1.1213	10	0.13470	T	0.59	-20.1815	19.967	0.97274	0.0:1.0:0.0:0.0	.	185;166	G3V1S2;Q13617	.;CUL2_HUMAN	Q	166;166;166;166;109;166;185;166	ENSP00000363883:E166Q;ENSP00000363880:E166Q;ENSP00000363878:E166Q;ENSP00000363881:E166Q;ENSP00000363874:E166Q;ENSP00000444856:E185Q;ENSP00000414095:E166Q	ENSP00000363874:E166Q	E	-	1	0	CUL2	35378627	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.777000	0.85628	2.714000	0.92807	0.655000	0.94253	GAA	CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.393	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	C	NM_003591		35338621	-1	no_errors	ENST00000537177	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35338621	C	G	35338621	3	3	13	1	0	0	0	0	1	0	0	0	4060	922	32	1	1805	1	CUL2	10	35338621	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3522923	35338621	100196126	452	1896										
PCDH15	65217	genome.wustl.edu	37	chr10	55949126	55949126	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttaacacctagtacctacagGaactccactgggtggaacct	8	12	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:55949126G>A	ENST00000320301.6	-	12	1700				PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P46S|PCDH15_ENST00000373955.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.P442S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P442S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTACCTACAGGAACTCCACTG	0.338										HNSCC(58;0.16)																																							0													93	85	87					10																	55949126		1565	3580	5145	SO:0001627	intron_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1306-4098C>T	10.37:g.55949126G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P46S	ENST00000320301.6	37	c.136	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977320	0.18812	.	.	ENSG00000150275	ENST00000373965;ENST00000409834;ENST00000395445	T;T;T	0.61510	0.1;0.31;0.1	5.47	5.47	0.80525	.	.	.	.	.	T	0.61299	0.2336	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.53585	-0.8418	9	0.10636	T	0.68	.	16.8303	0.85942	0.0:0.0:1.0:0.0	.	442;442	C6ZEF5;A2A3E2	.;.	S	442;46;442	ENSP00000363076:P442S;ENSP00000386693:P46S;ENSP00000378832:P442S	ENSP00000363076:P442S	P	-	1	0	PCDH15	55619132	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.738000	0.68613	2.579000	0.87056	0.585000	0.79938	CCT	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55949126	-1	no_errors	ENST00000409834	ensembl	human	putative	70_37	missense	SNP	1.000	A	A	55949126	G	A	55949126	1	1	13	0	1	0	0	0	0	0	0	0	11535	1174	41	1		1	PCDH15	10	55949126	Intron	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	20610505	55949126	79585621	453	1897										
ASCC1	51008	genome.wustl.edu	37	chr10	73921387	73921387	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caacatcccaatagttagatGaagctttttaggattctgga	8	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:73921387G>A	ENST00000342444.4	-	7	720	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	ASCC1_ENST00000394919.1_Missense_Mutation_p.H179Y|ASCC1_ENST00000317168.6_Missense_Mutation_p.H179Y|ASCC1_ENST00000394915.3_Missense_Mutation_p.H207Y|ASCC1_ENST00000317126.4_Missense_Mutation_p.H179Y|ASCC1_ENST00000545550.1_Missense_Mutation_p.H201Y	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						ATAGTTAGATGAAGCTTTTTA	0.403																																																	0													148	144	146					10																	73921387		2203	4300	6503	SO:0001583	missense	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.619C>T	10.37:g.73921387G>A	ENSP00000339404:p.His207Tyr		Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1	p.H207Y	ENST00000342444.4	37	c.619	CCDS55713.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.024599|5.024599	0.93518|0.93518	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530431;ENST00000531048|ENST00000486689	D;D;D;D;D;D;D|.	0.96073|.	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.09|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Protein kinase A anchor protein, nuclear localisation signal domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85822|0.85822	0.5786|0.5786	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	D|D	0.88532|0.88532	0.3103|0.3103	10|5	0.87932|.	D|.	0|.	-15.7921|-15.7921	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201;207;94|.	F5H874;Q8N9N2;B3KU20|.	.;ASCC1_HUMAN;.|.	Y|L	179;207;179;179;94;179;201;207;94;113|110	ENSP00000378377:H179Y;ENSP00000339404:H207Y;ENSP00000320810:H179Y;ENSP00000320461:H179Y;ENSP00000442121:H201Y;ENSP00000378373:H207Y;ENSP00000436098:H113Y|.	ENSP00000320461:H179Y|.	H|S	-|-	1|2	0|0	ASCC1|ASCC1	73591393|73591393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.333000|8.333000	0.90026|0.90026	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	CAT|TCA	ASCC1	-	pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT		0.403	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ASCC1	HGNC	protein_coding	OTTHUMT00000048573.2	G	NM_015947		73921387	-1	no_errors	ENST00000342444	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73921387	G	A	73921387	3	1	13	1	0	0	0	0	1	0	0	0	1032	1290	45	1	558	1	ASCC1	10	73921387	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	17972261	73921387	61613360	454	1898										
PPP3CB	5532	genome.wustl.edu	37	chr10	75198056	75198056	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtggcatgtgcggtgttcaGagaattgaaaccatcttgct	12	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:75198056G>A	ENST00000360663.5	-	14	1630	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	PPP3CB_ENST00000394829.2_Silent_p.L508L|PPP3CB_ENST00000394828.2_Silent_p.L498L|PPP3CB_ENST00000544628.1_Silent_p.L135L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	507					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GCGGTGTTCAGAGAATTGAAA	0.507																																																	0													173	146	155					10																	75198056		2203	4300	6503	SO:0001819	synonymous_variant	5532			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1519C>T	10.37:g.75198056G>A			P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L508	ENST00000360663.5	37	c.1522	CCDS7328.1	10																																																																																			PPP3CB	-	NULL		0.507	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	G	NM_021132		75198056	-1	no_errors	ENST00000394829	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75198056	G	A	75198056	2	1	13	1	0	0	0	0	0	0	0	1	12425	933	33	1		1	PPP3CB	10	75198056	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1276669	75198056	60336691	455	1899										
AP3M1	26985	genome.wustl.edu	37	chr10	75896476	75896476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attcggtagccagtggaaatCcattgtctaacatttcttct	7	9	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:75896476C>T	ENST00000355264.4	-	3	670	c.359G>A	c.(358-360)gGa>gAa	p.G120E	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.G120E	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	120					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CAGTGGAAATCCATTGTCTAA	0.358																																																	0													134	127	129					10																	75896476		2202	4300	6502	SO:0001583	missense	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.359G>A	10.37:g.75896476C>T	ENSP00000347408:p.Gly120Glu		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.G120E	ENST00000355264.4	37	c.359	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.317780	0.95682	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.92048	-2.96;-2.96	5.74	5.74	0.90152	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98683	1.0693	10	0.87932	D	0	.	19.9185	0.97074	0.0:1.0:0.0:0.0	.	120	Q9Y2T2	AP3M1_HUMAN	E	120	ENSP00000347408:G120E;ENSP00000361831:G120E	ENSP00000347408:G120E	G	-	2	0	AP3M1	75566482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.711000	0.92665	0.561000	0.74099	GGA	AP3M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	C			75896476	-1	no_errors	ENST00000355264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75896476	C	T	75896476	3	4	13	1	0	0	0	0	1	0	0	0	747	855	30	1	925	1	AP3M1	10	75896476	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	698420	75896476	59638271	456	1900										
ADK	132	genome.wustl.edu	37	chr10	76429981	76429981	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctgtcttggatcaagaccaGaaagaaattattgataccaa	8	7	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:76429981G>A	ENST00000286621.2	+	10	968	c.918G>A	c.(916-918)caG>caA	p.Q306Q	ADK_ENST00000372734.3_Silent_p.Q289Q|ADK_ENST00000541550.1_Silent_p.Q271Q|ADK_ENST00000539909.1_Silent_p.Q249Q	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	306					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	ATCAAGACCAGAAAGAAATTA	0.363																																																	0													119	111	113					10																	76429981		2203	4300	6503	SO:0001819	synonymous_variant	132			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.918G>A	10.37:g.76429981G>A			B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Silent	SNP	pfam_PfkB,prints_Adenokinase	p.Q306	ENST00000286621.2	37	c.918	CCDS7343.1	10																																																																																			ADK	-	pfam_PfkB		0.363	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADK	HGNC	protein_coding	OTTHUMT00000048763.1	G	NM_001123, NM_006721		76429981	1	no_errors	ENST00000286621	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76429981	G	A	76429981	2	1	13	1	0	0	0	0	0	0	0	1	320	933	33	1		1	ADK	10	76429981	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	533505	76429981	59104766	457	1901										
MYST4	23522	genome.wustl.edu	37	chr10	76789044	76789044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgacagcttcttgtaacagtGagcccaaggagcttgctggg	13	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:76789044G>C	ENST00000287239.4	+	18	4951	c.4462G>C	c.(4462-4464)Gag>Cag	p.E1488Q	KAT6B_ENST00000372725.1_Missense_Mutation_p.E1196Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1305Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1196Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1196Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1488					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTGTAACAGTGAGCCCAAGGA	0.532																																																	0													66	69	68					10																	76789044		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4462G>C	10.37:g.76789044G>C	ENSP00000287239:p.Glu1488Gln		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1488Q	ENST00000287239.4	37	c.4462	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	8.213	0.800828	0.16397	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79141	-1.23;-1.23;-1.24;-1.23;-1.23	4.78	4.78	0.61160	.	0.128463	0.34777	N	0.003694	T	0.71375	0.3332	L	0.29908	0.895	0.39365	D	0.965986	P;B;B	0.39480	0.675;0.144;0.443	B;B;B	0.41813	0.367;0.157;0.146	T	0.75196	-0.3403	10	0.46703	T	0.11	-10.9103	15.9958	0.80243	0.0:0.0:1.0:0.0	.	1305;1196;1488	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	1196;1196;1488;1196;1305	ENSP00000361810:E1196Q;ENSP00000361809:E1196Q;ENSP00000287239:E1488Q;ENSP00000361799:E1196Q;ENSP00000361796:E1305Q	ENSP00000287239:E1488Q	E	+	1	0	KAT6B	76459050	0.999000	0.42202	1.000000	0.80357	0.802000	0.45316	2.995000	0.49441	2.202000	0.70862	0.462000	0.41574	GAG	KAT6B	-	NULL		0.532	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76789044	1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76789044	G	C	76789044	3	2	13	1	0	0	0	0	1	0	0	0	10128	1291	45	1	4524	1	MYST4	10	76789044	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	359063	76789044	58745703	458	1902										
EIF5AL1	143244	genome.wustl.edu	37	chr10	81272814	81272814	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagaagagatcctgatcacgGtgctgtctgccatgacagag	13	9	2	5	rs200388618		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:81272814G>C	ENST00000520547.2	+	1	458	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	137					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCTGATCACGGTGCTGTCTGC	0.567																																																	0								G	LEU/VAL	489,3911	214.8+/-234.0	38,413,1749	86	94	92		409	0.9	0.7	10	dbSNP_134	92	709,7885	166.4+/-218.3	23,663,3611	no	missense	EIF5AL1	NM_001099692.1	32	61,1076,5360	CC,CG,GG		8.2499,11.1136,9.2196	probably-damaging	137/155	81272814	1198,11796	2200	4297	6497	SO:0001583	missense	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.409G>C	10.37:g.81272814G>C	ENSP00000430706:p.Val137Leu			Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.V137L	ENST00000520547.2	37	c.409	CCDS53546.1	10	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804487	0.50315	0.111136	0.082499	ENSG00000253626	ENST00000520547	T	0.61040	0.14	0.882	0.882	0.19172	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01661	0.0053	M	0.83384	2.64	0.29897	P	0.824741	P	0.36483	0.555	B	0.34991	0.193	T	0.29971	-0.9994	8	0.72032	D	0.01	.	5.1346	0.14928	0.0:0.0:1.0:0.0	.	137	Q6IS14	IF5AL_HUMAN	L	137	ENSP00000430706:V137L	ENSP00000430706:V137L	V	+	1	0	EIF5AL1	80942820	0.999000	0.42202	0.651000	0.29564	0.479000	0.33129	3.439000	0.52878	0.435000	0.26365	0.064000	0.15345	GTG	EIF5AL1	-	pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A		0.567	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5AL1	HGNC	protein_coding	OTTHUMT00000048954.4	G	NM_001099692		81272814	1	no_errors	ENST00000520547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81272814	G	C	81272814	3	2	13	1	0	0	0	0	1	0	0	0	5055	1261	44	4	411	4	EIF5AL1	10	81272814	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4483770	81272814	54261933	459	1903										
ANXA11	311	genome.wustl.edu	37	chr10	81923864	81923864	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcattgctgcgggaagcgagGatctcaatcaggcaggcttc	13	10	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:81923864G>C	ENST00000438331.1	-	10	1376	c.894C>G	c.(892-894)atC>atG	p.I298M	ANXA11_ENST00000372231.3_Missense_Mutation_p.I298M|ANXA11_ENST00000537102.1_Missense_Mutation_p.I265M|ANXA11_ENST00000265447.4_Missense_Mutation_p.I298M|ANXA11_ENST00000535999.1_Missense_Mutation_p.I298M|ANXA11_ENST00000422982.3_Missense_Mutation_p.I298M|ANXA11_ENST00000360615.4_Missense_Mutation_p.I298M	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	298					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGGAAGCGAGGATCTCAATCA	0.577																																																	0													157	132	140					10																	81923864		2203	4300	6503	SO:0001583	missense	311			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.894C>G	10.37:g.81923864G>C	ENSP00000398610:p.Ile298Met		B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.I298M	ENST00000438331.1	37	c.894	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	18.22	3.576868	0.65878	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.47	5.47	0.80525	Annexin repeat, conserved site (1);	0.048394	0.85682	D	0.000000	T	0.45756	0.1358	M	0.93283	3.4	0.53005	D	0.999968	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.54682	-0.8257	10	0.87932	D	0	.	10.6211	0.45481	0.0876:0.0:0.9124:0.0	.	398;298;298	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	M	298;298;298;298;298;298;298;205;265	ENSP00000361305:I298M;ENSP00000404412:I298M;ENSP00000398610:I298M;ENSP00000353827:I298M;ENSP00000265447:I298M;ENSP00000441748:I298M;ENSP00000441400:I265M	ENSP00000265447:I298M	I	-	3	3	ANXA11	81913844	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.366000	0.44204	2.746000	0.94184	0.561000	0.74099	ATC	ANXA11	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	G	NM_145869		81923864	-1	no_errors	ENST00000265447	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81923864	G	C	81923864	3	2	13	1	0	0	0	0	1	0	0	0	716	1164	41	1	655	1	ANXA11	10	81923864	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	651050	81923864	53610883	460	1904										
LDB3	11155	genome.wustl.edu	37	chr10	88441498	88441498	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcggcagagaccctgagggaGatggctcagatgtaccagat	14	9	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:88441498G>C	ENST00000361373.4	+	4	648	c.627G>C	c.(625-627)gaG>gaC	p.E209D	LDB3_ENST00000372056.4_Missense_Mutation_p.E209D|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.E209D|LDB3_ENST00000542786.1_Missense_Mutation_p.E209D|LDB3_ENST00000429277.2_Missense_Mutation_p.E209D|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372066.3_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCTGAGGGAGATGGCTCAGA	0.632																																																	0													64	72	69					10																	88441498		2203	4300	6503	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.627G>C	10.37:g.88441498G>C	ENSP00000355296:p.Glu209Asp			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E209D	ENST00000361373.4	37	c.627	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481359	0.44147	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.56776	0.67;0.79;0.99;0.44;0.49	5.67	5.67	0.87782	ZASP (1);	0.000000	0.32918	N	0.005497	T	0.64193	0.2576	M	0.62723	1.935	0.51012	D	0.999906	D;B;D;D;B	0.69078	0.997;0.004;0.995;0.997;0.145	D;B;D;D;B	0.72625	0.978;0.024;0.948;0.978;0.101	T	0.59215	-0.7496	10	0.16896	T	0.51	.	9.9345	0.41543	0.1554:0.0:0.8446:0.0	.	209;209;209;209;209	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	D	209	ENSP00000401437:E209D;ENSP00000361126:E209D;ENSP00000311913:E209D;ENSP00000355296:E209D;ENSP00000438866:E209D	ENSP00000311913:E209D	E	+	3	2	LDB3	88431478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.132000	0.57977	2.676000	0.91093	0.655000	0.94253	GAG	LDB3	-	smart_ZASP		0.632	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	G			88441498	1	no_errors	ENST00000429277	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88441498	G	C	88441498	3	2	13	1	0	0	0	0	1	0	0	0	8717	933	33	1	641	1	LDB3	10	88441498	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6517634	88441498	47093249	461	1905										
PTEN	5728	genome.wustl.edu	37	chr10	89711893	89711893	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agggagtaactattcccagtCagaggcgctatgtgtattat	11	7	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:89711893C>T	ENST00000371953.3	+	6	1868	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTCCCAGTCAGAGGCGCTA	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	70	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Nonsense(9)|Complex - frameshift(4)|Unknown(4)|Substitution - Missense(3)|Deletion - In frame(2)	central_nervous_system(23)|prostate(16)|skin(8)|endometrium(6)|lung(5)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	HM971504	PTEN	M							120	124	123					10																	89711893		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.511C>T	10.37:g.89711893C>T	ENSP00000361021:p.Gln171*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q171*	ENST00000371953.3	37	c.511	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	50	16.540715	0.99866	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	0.114128	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.5947	19.9308	0.97118	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	.	Q	+	1	0	PTEN	89701873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CAG	PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89711893	1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	89711893	C	T	89711893	4	4	13	1	0	0	0	0	0	1	0	0	12765	827	29	1	533	1	PTEN	10	89711893	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1270395	89711893	45822854	462	1906										
KIF11	3832	genome.wustl.edu	37	chr10	94397061	94397061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agacttcattgacagtggccGataaggtaacaaatgctatg	10	7	1	2	rs201047452		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:94397061G>A	ENST00000260731.3	+	15	2086	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	666					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACAGTGGCCGATAAGGTAAC	0.313																																					Colon(47;212 1003 2764 4062 8431)												0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	96	98	97		1996	2.6	1	10		97	0,8596		0,0,4298	no	missense	KIF11	NM_004523.3	23	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	666/1057	94397061	1,13001	2203	4298	6501	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1996G>A	10.37:g.94397061G>A	ENSP00000260731:p.Asp666Asn		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D666N	ENST00000260731.3	37	c.1996	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527545	0.27299	2.27E-4	0.0	ENSG00000138160	ENST00000260731	T	0.64438	-0.1	4.82	2.59	0.31030	.	0.598474	0.16618	N	0.206638	T	0.35307	0.0927	N	0.04880	-0.145	0.31131	N	0.70777	B	0.14805	0.011	B	0.11329	0.006	T	0.28996	-1.0026	10	0.22706	T	0.39	.	7.3061	0.26449	0.1094:0.1729:0.7177:0.0	.	666	P52732	KIF11_HUMAN	N	666	ENSP00000260731:D666N	ENSP00000260731:D666N	D	+	1	0	KIF11	94387041	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	2.472000	0.45136	0.957000	0.37930	0.655000	0.94253	GAT	KIF11	-	NULL		0.313	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523		94397061	1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94397061	G	A	94397061	3	1	13	1	0	0	0	0	1	0	0	0	8292	1058	37	1	2054	1	KIF11	10	94397061	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4685168	94397061	41137686	463	1907										
PLCE1	51196	genome.wustl.edu	37	chr10	95931118	95931118	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagtcgactacctttgcttCttaacacgggacttgggcac	9	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:95931118C>G	ENST00000371380.3	+	3	1909	c.1674C>G	c.(1672-1674)ttC>ttG	p.F558L	PLCE1_ENST00000371375.1_Missense_Mutation_p.F250L|PLCE1_ENST00000371385.3_Missense_Mutation_p.F250L|PLCE1_ENST00000260766.3_Missense_Mutation_p.F558L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	558	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCTTTGCTTCTTAACACGGG	0.537																																																	0													145	146	146					10																	95931118		2041	4190	6231	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1674C>G	10.37:g.95931118C>G	ENSP00000360431:p.Phe558Leu		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.F558L	ENST00000371380.3	37	c.1674	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323399	0.81580	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.84	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.125962	0.53938	D	0.000051	T	0.49184	0.1542	L	0.54323	1.7	0.40040	D	0.975631	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.99;0.992	T	0.50972	-0.8764	10	0.56958	D	0.05	.	12.5222	0.56067	0.0:0.8632:0.0:0.1368	.	558;250;558	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	558;558;250;250	ENSP00000260766:F558L;ENSP00000360431:F558L;ENSP00000360438:F250L;ENSP00000360426:F250L	ENSP00000260766:F558L	F	+	3	2	PLCE1	95921108	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.199000	0.32235	1.472000	0.48140	0.655000	0.94253	TTC	PLCE1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95931118	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95931118	C	G	95931118	3	3	13	1	0	0	0	0	1	0	0	0	12058	912	32	1	1970	1	PLCE1	10	95931118	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1534057	95931118	39603629	464	1908										
PDZD7	79955	genome.wustl.edu	37	chr10	102778941	102778941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgctggagctgctctcagagGccggggacagctgctgcagc	16	13	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:102778941G>T	ENST00000370215.3	-	8	1187	c.962C>A	c.(961-963)gCc>gAc	p.A321D		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	321	Ser-rich.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCTCTCAGAGGCCGGGGACAG	0.677											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													5	4	4					10																	102778941		1936	3891	5827	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.962C>A	10.37:g.102778941G>T	ENSP00000359234:p.Ala321Asp	1369	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A321D	ENST00000370215.3	37	c.962	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595186	0.46318	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11604	2.76	5.21	5.21	0.72293	.	0.357659	0.29522	N	0.011904	T	0.12561	0.0305	L	0.38531	1.155	0.33223	D	0.554923	P;P	0.50272	0.933;0.573	P;B	0.44860	0.462;0.3	T	0.12372	-1.0550	10	0.16420	T	0.52	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	321;321	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	321	ENSP00000359234:A321D	ENSP00000359234:A321D	A	-	2	0	PDZD7	102768931	0.999000	0.42202	0.989000	0.46669	0.966000	0.64601	2.982000	0.49337	2.433000	0.82419	0.561000	0.74099	GCC	PDZD7	-	NULL		0.677	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	G	NM_024895		102778941	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	missense	SNP	0.988	T	T	102778941	G	T	102778941	3	4	13	1	0	0	0	0	1	0	0	0	11728	1203	42	4	603	4	PDZD7	10	102778941	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6847823	102778941	32755806	465	1909										
NRAP	4892	genome.wustl.edu	37	chr10	115364418	115364418	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaggccatcttcaggtcctCgggcagtgctgtgaacttgt	12	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:115364418C>A	ENST00000359988.3	-	35	4421	c.4177G>T	c.(4177-4179)Gag>Tag	p.E1393*	NRAP_ENST00000360478.3_Nonsense_Mutation_p.E1358*|NRAP_ENST00000369358.4_Nonsense_Mutation_p.E1401*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.E1366*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCAGGTCCTCGGGCAGTGCT	0.592																																																	0													111	103	106					10																	115364418		2203	4300	6503	SO:0001587	stop_gained	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4177G>T	10.37:g.115364418C>A	ENSP00000353078:p.Glu1393*			Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.E1401*	ENST00000359988.3	37	c.4201	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	40	8.493536	0.98836	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.54	4.64	0.57946	.	0.101966	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.0234	0.42057	0.0:0.7901:0.1374:0.0724	.	.	.	.	X	1401;1366;1393;1358;551	.	ENSP00000353078:E1393X	E	-	1	0	NRAP	115354408	1.000000	0.71417	0.866000	0.34008	0.083000	0.17756	4.891000	0.63185	1.359000	0.45940	-0.266000	0.10368	GAG	NRAP	-	smart_Nebulin_35r-motif		0.592	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	C	NM_006175		115364418	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	115364418	C	A	115364418	4	1	13	1	0	0	0	0	0	1	0	0	10662	893	31	3	1047	3	NRAP	10	115364418	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	12585477	115364418	20170329	466	1910										
NRAP	4892	genome.wustl.edu	37	chr10	115401164	115401164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctttcatagcatgcagagtgCgtctgtccataccaactcct	7	13	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:115401164C>T	ENST00000359988.3	-	13	1527	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	NRAP_ENST00000360478.3_Missense_Mutation_p.R393H|NRAP_ENST00000369358.4_Missense_Mutation_p.R428H|NRAP_ENST00000369360.3_Missense_Mutation_p.R393H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGCAGAGTGCGTCTGTCCAT	0.468																																																	0													180	155	164					10																	115401164		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1283G>A	10.37:g.115401164C>T	ENSP00000353078:p.Arg428His			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.R428H	ENST00000359988.3	37	c.1283	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605596	0.87157	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.35048	1.33;2.51;1.33;2.33	5.34	5.34	0.76211	.	0.105848	0.64402	D	0.000006	T	0.52092	0.1713	L	0.46157	1.445	0.43069	D	0.994703	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68621	0.959;0.959;0.933	T	0.36138	-0.9760	10	0.18710	T	0.47	.	19.0347	0.92972	0.0:1.0:0.0:0.0	.	428;393;428	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	428;393;428;393;157;157	ENSP00000358365:R428H;ENSP00000358367:R393H;ENSP00000353078:R428H;ENSP00000353666:R393H	ENSP00000353078:R428H	R	-	2	0	NRAP	115391154	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	3.050000	0.49877	2.514000	0.84764	0.561000	0.74099	CGC	NRAP	-	smart_Nebulin_35r-motif		0.468	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	C	NM_006175		115401164	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115401164	C	T	115401164	3	4	13	1	0	0	0	0	1	0	0	0	10662	768	27	2	4029	2	NRAP	10	115401164	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	36746	115401164	20133583	467	1911										
DCLRE1A	9937	genome.wustl.edu	37	chr10	115610113	115610113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgttgggatgtttggatatGagtagaaatcttttcactgg	12	3	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:115610113G>A	ENST00000361384.2	-	2	1668	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.H251Y	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	251					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTTGGATATGAGTAGAAATC	0.378								Other identified genes with known or suspected DNA repair function																																									0													78	80	80					10																	115610113		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.751C>T	10.37:g.115610113G>A	ENSP00000355185:p.His251Tyr		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.H251Y	ENST00000361384.2	37	c.751	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.522715	0.00967	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.63744	-0.06;-0.06	0.378	-0.755	0.11061	.	0.841800	0.11046	N	0.605570	T	0.35307	0.0927	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14755	-1.0461	9	0.52906	T	0.07	-11.3017	.	.	.	.	251	Q6PJP8	DCR1A_HUMAN	Y	251	ENSP00000355185:H251Y;ENSP00000358311:H251Y	ENSP00000355185:H251Y	H	-	1	0	DCLRE1A	115600103	0.000000	0.05858	0.004000	0.12327	0.075000	0.17131	-0.016000	0.12613	-0.556000	0.06134	-0.577000	0.04142	CAT	DCLRE1A	-	NULL		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	G	NM_014881		115610113	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	missense	SNP	0.049	A	A	115610113	G	A	115610113	3	1	13	1	0	0	0	0	1	0	0	0	4299	1290	45	1	2403	1	DCLRE1A	10	115610113	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	208949	115610113	19924634	468	1912										
INPP5F	79892	genome.wustl.edu	37	chr10	121587053	121587053	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgaacttgagacagggcttCatgtaactccttctccttca	7	11	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:121587053C>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.H444Y|INPP5F_ENST00000361976.2_Missense_Mutation_p.H1054Y	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACAGGGCTTCATGTAACTCC	0.502																																																	0													107	105	106					10																	121587053		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587053C>T			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.H1054Y	ENST00000360003.3	37	c.3160	CCDS7617.1	10	.	.	.	.	.	.	.	.	.	.	C	7.392	0.630929	0.14322	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.44083	1.18;0.93	5.92	1.41	0.22369	.	1.351530	0.04643	N	0.405729	T	0.28234	0.0697	L	0.29908	0.895	0.18873	N	0.999985	B;B	0.24533	0.105;0.0	B;B	0.22601	0.04;0.0	T	0.15896	-1.0421	10	0.02654	T	1	-0.0867	8.2385	0.31640	0.2356:0.6298:0.0:0.1345	.	444;1054	Q5W135;Q9Y2H2	.;SAC2_HUMAN	Y	1054;444	ENSP00000354519:H1054Y;ENSP00000358076:H444Y	ENSP00000354519:H1054Y	H	+	1	0	INPP5F	121577043	0.023000	0.18921	0.018000	0.16275	0.975000	0.68041	2.079000	0.41577	0.376000	0.24707	0.655000	0.94253	CAT	INPP5F	-	NULL		0.502	MCMBP-002	KNOWN	basic|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050684.1	C	NM_024834		121587053	1	no_errors	ENST00000361976	ensembl	human	known	70_37	missense	SNP	0.031	T	T	121587053	C	T	121587053	1	4	13	0	1	0	0	0	0	0	0	0	7778	826	29	1		1	INPP5F	10	121587053	IGR	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5976940	121587053	13947694	469	1913										
MKI67	4288	genome.wustl.edu	37	chr10	129903272	129903272	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcccataaatgctttcatgtCtttctcatcacctcctgctg	4	14	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:129903272C>G	ENST00000368654.3	-	13	7207	c.6832G>C	c.(6832-6834)Gac>Cac	p.D2278H	MKI67_ENST00000368653.3_Missense_Mutation_p.D1918H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2278	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTTTCATGTCTTTCTCATCA	0.473																																																	0													266	243	251					10																	129903272		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6832G>C	10.37:g.129903272C>G	ENSP00000357643:p.Asp2278His		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D2278H	ENST00000368654.3	37	c.6832	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814434	0.16607	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02446	4.29;4.29	3.21	-2.68	0.06041	.	2.836530	0.01441	N	0.015088	T	0.06690	0.0171	L	0.52573	1.65	0.09310	N	1	B;B;P	0.42735	0.06;0.123;0.788	B;B;P	0.51777	0.093;0.426;0.679	T	0.29822	-0.9999	10	0.48119	T	0.1	.	4.2338	0.10616	0.1553:0.4239:0.0:0.4207	.	2277;1918;2278	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	H	2278;1918;2277	ENSP00000357643:D2278H;ENSP00000357642:D1918H	ENSP00000357642:D1918H	D	-	1	0	MKI67	129793262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.272000	0.01165	-0.360000	0.08138	-0.751000	0.03497	GAC	MKI67	-	pfam_K167R		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129903272	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	G	G	129903272	C	G	129903272	3	3	13	1	0	0	0	0	1	0	0	0	9621	913	32	1	2950	1	MKI67	10	129903272	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8316219	129903272	5631475	470	1914										
TCERG1L	256536	genome.wustl.edu	37	chr10	133058588	133058588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggaagtggcgcggctgcaCgctggagggggacgggcccc	20	12	0	0	rs144481929		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:133058588C>T	ENST00000368642.4	-	4	875	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	264										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CGCGGCTGCACGCTGGAGGGG	0.697																																																	0								C	MET/VAL	0,4406		0,0,2203	22	25	24		790	2.2	0.5	10	dbSNP_134	24	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCERG1L	NM_174937.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	264/587	133058588	1,13005	2203	4300	6503	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.790G>A	10.37:g.133058588C>T	ENSP00000357631:p.Val264Met		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.V264M	ENST00000368642.4	37	c.790	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968869	0.18659	0.0	1.16E-4	ENSG00000176769	ENST00000368642	T	0.27402	1.67	5.2	2.16	0.27623	.	0.458058	0.19371	N	0.115901	T	0.14527	0.0351	N	0.21448	0.665	0.28221	N	0.926515	P	0.35242	0.492	B	0.21546	0.035	T	0.15235	-1.0444	10	0.24483	T	0.36	-3.9029	7.4249	0.27094	0.0:0.6988:0.0:0.3012	.	264	Q5VWI1	TCRGL_HUMAN	M	264	ENSP00000357631:V264M	ENSP00000357631:V264M	V	-	1	0	TCERG1L	132948578	0.001000	0.12720	0.493000	0.27502	0.302000	0.27658	-0.572000	0.05881	0.136000	0.18733	-0.345000	0.07892	GTG	TCERG1L	-	NULL		0.697	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	C	NM_174937		133058588	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	0.830	T	T	133058588	C	T	133058588	3	4	13	1	0	0	0	0	1	0	0	0	15716	536	19	2	1006	2	TCERG1L	10	133058588	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3155316	133058588	2476159	471	1915										
MUC5B	727897	genome.wustl.edu	37	chr11	1267602	1267602	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagggaccacctggatcctCacagagcccagcactacagc	9	17	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:1267602C>G	ENST00000529681.1	+	31	9550	c.9492C>G	c.(9490-9492)ctC>ctG	p.L3164L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L3167L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3164	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGATCCTCACAGAGCCCA	0.667																																																	0													78	96	90					11																	1267602		2096	4181	6277	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9492C>G	11.37:g.1267602C>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L3167	ENST00000529681.1	37	c.9501	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.685	-0.274575	0.05679	.	.	ENSG00000117983	ENST00000538459	.	.	.	1.48	-2.96	0.05547	.	.	.	.	.	T	0.18173	0.0436	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34054	-0.9844	5	0.11794	T	0.64	.	8.8228	0.35036	0.742:0.2579:0.0:0.0	.	.	.	.	D	54	.	ENSP00000442622:H54D	H	+	1	0	MUC5B	1224178	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-2.108000	0.01336	-0.841000	0.04200	0.186000	0.17326	CAC	MUC5B	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1267602	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	G	G	1267602	C	G	1267602	2	3	13	1	0	0	0	0	0	0	0	1	10002	813	29	1		1	MUC5B	11	1267602	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		1267602	133738914	472	1916										
MUC5B	727897	genome.wustl.edu	37	chr11	1271508	1271508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acggtgcccaccggatccacGgccaccgcctcctccaccca	8	22	0	0	rs12418291	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:1271508G>A	ENST00000529681.1	+	31	13456	c.13398G>A	c.(13396-13398)acG>acA	p.T4466T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4469T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4466	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGATCCACGGCCACCGCCT	0.672													G|||	1698	0.339058	0.2133	0.3242	5008	,	,		18754	0.5992		0.2853	False		,,,				2504	0.3067																0								G		781,3161		75,631,1265	42	51	48		13398	0	0	11	dbSNP_120	48	2487,5713		417,1653,2030	no	coding-synonymous	MUC5B	NM_002458.2		492,2284,3295	AA,AG,GG		30.3293,19.8123,26.9148		4466/5763	1271508	3268,8874	1971	4100	6071	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13398G>A	11.37:g.1271508G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4469	ENST00000529681.1	37	c.13407	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1271508	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.001	A	A	1271508	G	A	1271508	2	1	13	1	0	0	0	0	0	0	0	1	10002	1103	39	2		2	MUC5B	11	1271508	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3906	1271508	133735008	473	1917										
TRIM34	53840	genome.wustl.edu	37	chr11	5655906	5655906	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggatacaaacagaatttgatCagcttagaagcatcctaaat	7	7	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:5655906C>A	ENST00000514226.1	+	4	902	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.Q189K|TRIM34_ENST00000429814.2_Missense_Mutation_p.Q189K|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.Q543K	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	189					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTTGATCAGCTTAGAAG	0.418																																																	0													67	62	64					11																	5655906		2201	4297	6498	SO:0001583	missense	445372			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.565C>A	11.37:g.5655906C>A	ENSP00000422947:p.Gln189Lys		D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q543K	ENST00000514226.1	37	c.1627	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150086	0.21371	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	3.78	1.89	0.25635	.	1.275020	0.05972	N	0.642659	T	0.02418	0.0074	L	0.31371	0.925	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.15052	0.012;0.002;0.004	T	0.49000	-0.8984	10	0.08381	T	0.77	.	4.5577	0.12145	0.2179:0.6676:0.0:0.1145	.	189;189;543	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	K	543;189;189;189;543	ENSP00000422947:Q189K;ENSP00000402595:Q189K;ENSP00000395982:Q189K;ENSP00000346916:Q543K	ENSP00000402595:Q189K	Q	+	1	0	TRIM34;TRIM6-TRIM34	5612482	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	-0.026000	0.12392	0.565000	0.29255	0.655000	0.94253	CAG	TRIM6-TRIM34	-	NULL		0.418	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	C	NM_001003827		5655906	1	no_errors	ENST00000354852	ensembl	human	known	70_37	missense	SNP	0.010	A	A	5655906	C	A	5655906	3	1	13	1	0	0	0	0	1	0	0	0	16539	827	29	3	575	3	TRIM34	11	5655906	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4384398	5655906	129350610	474	1918										
CNGA4	1262	genome.wustl.edu	37	chr11	6261369	6261369	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacgttcgcacctggagtttCttcttggacctggcttccct	9	13	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:6261369C>A	ENST00000379936.2	+	4	460	c.345C>A	c.(343-345)ttC>ttA	p.F115L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	115					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGAGTTTCTTCTTGGACC	0.627																																																	0													138	131	134					11																	6261369		2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.345C>A	11.37:g.6261369C>A	ENSP00000369268:p.Phe115Leu			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F115L	ENST00000379936.2	37	c.345	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860182	0.71834	.	.	ENSG00000132259	ENST00000379936	D	0.98419	-4.92	5.15	3.28	0.37604	Ion transport (1);	0.045838	0.85682	D	0.000000	D	0.98830	0.9605	M	0.92459	3.31	0.42028	D	0.99101	D;D	0.65815	0.995;0.984	P;P	0.61722	0.893;0.749	D	0.98934	1.0788	10	0.62326	D	0.03	.	10.4427	0.44474	0.0:0.8393:0.0:0.1607	.	115;75	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	L	115	ENSP00000369268:F115L	ENSP00000369268:F115L	F	+	3	2	CNGA4	6217945	0.100000	0.21855	0.626000	0.29213	0.848000	0.48234	0.636000	0.24644	0.672000	0.31204	0.655000	0.94253	TTC	CNGA4	-	pfam_Ion_trans_dom		0.627	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	C	NM_001037329		6261369	1	no_errors	ENST00000379936	ensembl	human	known	70_37	missense	SNP	0.975	A	A	6261369	C	A	6261369	3	1	13	1	0	0	0	0	1	0	0	0	3604	912	32	3	359	3	CNGA4	11	6261369	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	605463	6261369	128745147	475	1919										
MRGPRX1	259249	genome.wustl.edu	37	chr11	18955407	18955407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagctccaggatttcctcagGaagctgccctccaccttcat	7	16	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:18955407G>C	ENST00000302797.3	-	1	1149	c.925C>G	c.(925-927)Cct>Gct	p.P309A	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	309					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATTTCCTCAGGAAGCTGCCCT	0.582																																																	0													71	67	68					11																	18955407		2194	4285	6479	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.925C>G	11.37:g.18955407G>C	ENSP00000305766:p.Pro309Ala		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P309A	ENST00000302797.3	37	c.925	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	4.103	0.017197	0.07959	.	.	ENSG00000170255	ENST00000302797	T	0.18960	2.18	2.14	0.152	0.14893	.	0.727411	0.12381	N	0.473917	T	0.15478	0.0373	L	0.52266	1.64	0.09310	N	1	B	0.32245	0.361	B	0.27500	0.08	T	0.17930	-1.0353	10	0.52906	T	0.07	.	4.4111	0.11434	0.3624:0.0:0.6376:0.0	.	309	Q96LB2	MRGX1_HUMAN	A	309	ENSP00000305766:P309A	ENSP00000305766:P309A	P	-	1	0	MRGPRX1	18911983	0.010000	0.17322	0.009000	0.14445	0.005000	0.04900	1.102000	0.31050	0.036000	0.15547	-0.339000	0.08088	CCT	MRGPRX1	-	NULL		0.582	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	G	NM_147199		18955407	-1	no_errors	ENST00000302797	ensembl	human	known	70_37	missense	SNP	0.052	C	C	18955407	G	C	18955407	3	2	13	1	0	0	0	0	1	0	0	0	9789	1174	41	1	47	1	MRGPRX1	11	18955407	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12694038	18955407	116051109	476	1920										
ACCSL	390110	genome.wustl.edu	37	chr11	44069823	44069823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgcttaatatgccggatgatCaacctcctacagtctggggc	10	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:44069823C>T	ENST00000378832.1	+	1	293	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	79					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCCGGATGATCAACCTCCTAC	0.582																																																	0													97	105	102					11																	44069823		2042	4203	6245	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.237C>T	11.37:g.44069823C>T				Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.I79	ENST00000378832.1	37	c.237	CCDS41636.1	11																																																																																			ACCSL	-	NULL		0.582	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	C	NM_001031854		44069823	1	no_errors	ENST00000378832	ensembl	human	known	70_37	silent	SNP	0.001	T	T	44069823	C	T	44069823	2	4	13	1	0	0	0	0	0	0	0	1	134	816	29	1		1	ACCSL	11	44069823	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	25114416	44069823	90936693	477	1921										
OR4C46	119749	genome.wustl.edu	37	chr11	51515606	51515606	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aacatttcttcggaggtgcaGagggcatcctacttactgtg	11	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:51515606G>C	ENST00000328188.1	+	1	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473																																																	0													151	144	146					11																	51515606		2201	4296	6497	SO:0001583	missense	119749				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.325G>C	11.37:g.51515606G>C	ENSP00000329056:p.Glu109Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E109Q	ENST00000328188.1	37	c.325	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	7.821	0.717684	0.15372	.	.	ENSG00000185926	ENST00000328188	T	0.39997	1.05	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000273	T	0.48995	0.1531	M	0.91818	3.245	0.09310	N	0.999999	P	0.47253	0.892	B	0.39562	0.303	T	0.57516	-0.7798	10	0.87932	D	0	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	109	A6NHA9	O4C46_HUMAN	Q	109	ENSP00000329056:E109Q	ENSP00000329056:E109Q	E	+	1	0	OR4C46	51372182	0.979000	0.34478	0.131000	0.22000	0.006000	0.05464	3.490000	0.53245	1.513000	0.48852	0.134000	0.15878	GAG	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	G	NM_001004703		51515606	1	no_errors	ENST00000328188	ensembl	human	known	70_37	missense	SNP	0.239	C	C	51515606	G	C	51515606	3	2	13	1	0	0	0	0	1	0	0	0	11075	943	33	1	327	1	OR4C46	11	51515606	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7445783	51515606	83490910	478	1922										
OR5W2	390148	genome.wustl.edu	37	chr11	55681343	55681343	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ataagtgggaagtgcatgtaGagagagctttgaacctcccc	12	8	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:55681343G>C	ENST00000344514.1	-	1	715	c.716C>G	c.(715-717)tCt>tGt	p.S239C		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTGCATGTAGAGAGAGCTTT	0.403																																					Melanoma(48;171 1190 15239 43886 49348)												0													79	90	87					11																	55681343		2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.716C>G	11.37:g.55681343G>C	ENSP00000342448:p.Ser239Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239C	ENST00000344514.1	37	c.716	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733013	0.30684	.	.	ENSG00000187612	ENST00000344514	T	0.00314	8.14	5.0	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	N	0.001255	T	0.01353	0.0044	H	0.99312	4.51	0.29227	N	0.873554	D	0.89917	1.0	D	0.97110	1.0	T	0.07635	-1.0762	10	0.87932	D	0	.	11.2745	0.49159	0.0901:0.0:0.9099:0.0	.	239	Q8NH69	OR5W2_HUMAN	C	239	ENSP00000342448:S239C	ENSP00000342448:S239C	S	-	2	0	OR5W2	55437919	0.994000	0.37717	0.941000	0.38009	0.069000	0.16628	2.715000	0.47210	1.093000	0.41377	0.542000	0.68232	TCT	OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	G	NM_001001960		55681343	-1	no_errors	ENST00000344514	ensembl	human	known	70_37	missense	SNP	0.850	C	C	55681343	G	C	55681343	3	2	13	1	0	0	0	0	1	0	0	0	11209	942	33	1	218	1	OR5W2	11	55681343	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4165737	55681343	79325173	479	1923										
OR8H1	219469	genome.wustl.edu	37	chr11	56057847	56057847	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaaagctttctgctttcctGaagtggaattaattttcagg	8	7	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:56057847G>A	ENST00000313022.2	-	1	719	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CTGCTTTCCTGAAGTGGAATT	0.383																																																	0													121	114	116					11																	56057847		2201	4296	6497	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.692C>T	11.37:g.56057847G>A	ENSP00000323595:p.Ser231Leu		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S231L	ENST00000313022.2	37	c.692	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	G	6.577	0.474772	0.12521	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00152	8.66	3.9	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.343884	0.21519	N	0.073253	T	0.00144	0.0004	L	0.44542	1.39	0.09310	N	1	B	0.33299	0.407	B	0.35931	0.214	T	0.27157	-1.0082	10	0.87932	D	0	.	11.1786	0.48614	0.0:0.0:0.5321:0.4679	.	231	Q8NGG4	OR8H1_HUMAN	L	231;227	ENSP00000323595:S231L	ENSP00000323595:S231L	S	-	2	0	OR8H1	55814423	0.000000	0.05858	0.053000	0.19242	0.001000	0.01503	0.248000	0.18198	0.879000	0.35944	-0.305000	0.09177	TCA	OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.383	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	G	NM_001005199		56057847	-1	no_errors	ENST00000313022	ensembl	human	known	70_37	missense	SNP	0.002	A	A	56057847	G	A	56057847	3	1	13	1	0	0	0	0	1	0	0	0	11261	1294	45	1	245	1	OR8H1	11	56057847	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	376504	56057847	78948669	480	1924										
OR5M8	219484	genome.wustl.edu	37	chr11	56258535	56258535	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atctcaacatggaccaaggcGataaaaaggtaacactgcac	8	10	1	0	rs373410533		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:56258535G>A	ENST00000327216.2	-	1	336	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGACCAAGGCGATAAAAAGGT	0.468																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	116	100	106		312	-4	0	11		106	0,8592		0,0,4296	no	coding-synonymous	OR5M8	NM_001005282.1		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		104/312	56258535	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.312C>T	11.37:g.56258535G>A			B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I104	ENST00000327216.2	37	c.312	CCDS31533.1	11																																																																																			OR5M8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1	G	NM_001005282		56258535	-1	no_errors	ENST00000327216	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56258535	G	A	56258535	2	1	13	1	0	0	0	0	0	0	0	1	11200	1048	37	1		1	OR5M8	11	56258535	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	200688	56258535	78747981	481	1925										
SERPING1	710	genome.wustl.edu	37	chr11	57379217	57379217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctgcagctctcccacaatCtgagtttggtgatcctggta	10	11	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:57379217C>G	ENST00000278407.4	+	7	1284	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V	SERPING1_ENST00000403558.1_Missense_Mutation_p.L396V|SERPING1_ENST00000378323.4_Missense_Mutation_p.L358V|SERPING1_ENST00000378324.2_Missense_Mutation_p.L301V|SERPING1_ENST00000340687.6_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	353					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTCCCACAATCTGAGTTTGGT	0.502																																																	0													151	141	144					11																	57379217		2201	4296	6497	SO:0001583	missense	710			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1057C>G	11.37:g.57379217C>G	ENSP00000278407:p.Leu353Val		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L353V	ENST00000278407.4	37	c.1057	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136931	0.21123	.	.	ENSG00000149131	ENST00000278407;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	4.69	3.77	0.43336	Serpin domain (3);	0.577722	0.17235	N	0.181765	D	0.84311	0.5444	M	0.77712	2.385	0.31217	N	0.697959	B;B	0.27264	0.085;0.173	B;B	0.30179	0.112;0.112	T	0.81688	-0.0819	10	0.36615	T	0.2	.	10.4625	0.44587	0.3521:0.6479:0.0:0.0	.	358;353	B4E1F0;P05155	.;IC1_HUMAN	V	353;358;301;396	ENSP00000278407:L353V;ENSP00000367574:L358V;ENSP00000367575:L301V;ENSP00000384420:L396V	ENSP00000278407:L353V	L	+	1	2	SERPING1	57135793	0.998000	0.40836	1.000000	0.80357	0.496000	0.33645	0.494000	0.22467	1.098000	0.41479	-0.268000	0.10319	CTG	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.502	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	C	NM_000062		57379217	1	no_errors	ENST00000278407	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57379217	C	G	57379217	3	3	13	1	0	0	0	0	1	0	0	0	14146	912	32	1	1079	1	SERPING1	11	57379217	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1120682	57379217	77627299	482	1926										
OR5B21	219968	genome.wustl.edu	37	chr11	58275515	58275515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgccaggaggaggggtatctGaagattggggtcatctgtta	16	5	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:58275515G>A	ENST00000360374.2	-	1	63	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGGGTATCTGAAGATTGGGG	0.463																																																	0													64	61	62					11																	58275515		2201	4295	6496	SO:0001587	stop_gained	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.64C>T	11.37:g.58275515G>A	ENSP00000353537:p.Gln22*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q22*	ENST00000360374.2	37	c.64	CCDS31552.1	11	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386150	0.42308	.	.	ENSG00000198283	ENST00000360374	.	.	.	5.08	4.17	0.49024	.	0.242387	0.21316	U	0.076546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4572	12.114	0.53856	0.0834:0.0:0.9166:0.0	.	.	.	.	X	22	.	ENSP00000353537:Q22X	Q	-	1	0	OR5B21	58032091	0.405000	0.25336	0.055000	0.19348	0.499000	0.33736	2.443000	0.44881	1.361000	0.45981	0.655000	0.94253	CAG	OR5B21	-	NULL		0.463	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	G	NM_001005218		58275515	-1	no_errors	ENST00000360374	ensembl	human	known	70_37	nonsense	SNP	0.131	A	A	58275515	G	A	58275515	4	1	13	1	0	0	0	0	0	1	0	0	11175	1299	45	1	867	1	OR5B21	11	58275515	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	896298	58275515	76731001	483	1927										
FAM111A	63901	genome.wustl.edu	37	chr11	58920435	58920435	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttttgttgaaccttggtttGagatacataatgaagagctt	9	4	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:58920435G>C	ENST00000528737.1	+	5	4112	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	FAM111A_ENST00000361723.3_Missense_Mutation_p.E432Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E432Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.E432Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.E432Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	432	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACCTTGGTTTGAGATACATAA	0.373																																																	0													98	100	99					11																	58920435		2201	4295	6496	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1294G>C	11.37:g.58920435G>C	ENSP00000434435:p.Glu432Gln		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.E432Q	ENST00000528737.1	37	c.1294	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538933	0.45176	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.81	3.86	0.44501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.372648	0.28296	N	0.015871	D	0.92974	0.7764	M	0.74881	2.28	0.31383	N	0.678801	D	0.71674	0.998	D	0.69479	0.964	D	0.91311	0.5074	10	0.27785	T	0.31	-13.1528	14.0952	0.65016	0.0:0.2869:0.7131:0.0	.	432	Q96PZ2	F111A_HUMAN	Q	432	ENSP00000434435:E432Q;ENSP00000406683:E432Q;ENSP00000355264:E432Q;ENSP00000433154:E432Q;ENSP00000431631:E432Q	ENSP00000355264:E432Q	E	+	1	0	FAM111A	58677011	0.010000	0.17322	0.964000	0.40570	0.101000	0.19017	-0.093000	0.11111	0.844000	0.35094	0.655000	0.94253	GAG	FAM111A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like		0.373	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	G	NM_022074		58920435	1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.998	C	C	58920435	G	C	58920435	3	2	13	1	0	0	0	0	1	0	0	0	5414	1291	45	1	1300	1	FAM111A	11	58920435	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	644920	58920435	76086081	484	1928										
OSBP	5007	genome.wustl.edu	37	chr11	59344396	59344396	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtccattttccatcagtctCtggtcaggtcgtaaccggct	9	13	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:59344396C>A	ENST00000263847.1	-	13	2642	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	721					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCAGTCTCTGGTCAGGTC	0.498																																																	0													168	173	171					11																	59344396		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.2163G>T	11.37:g.59344396C>A	ENSP00000263847:p.Gln721His		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q721H	ENST00000263847.1	37	c.2163	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727289	0.69074	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.35421	1.31	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81104	-0.1084	10	0.87932	D	0	-21.9342	16.0592	0.80826	0.0:0.8653:0.1347:0.0	.	721	P22059	OSBP1_HUMAN	H	721;321	ENSP00000263847:Q721H	ENSP00000263847:Q721H	Q	-	3	2	OSBP	59100972	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.026000	0.70873	1.329000	0.45376	-0.175000	0.13238	CAG	OSBP	-	pfam_Oxysterol-bd		0.498	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	C			59344396	-1	no_errors	ENST00000263847	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59344396	C	A	59344396	3	1	13	1	0	0	0	0	1	0	0	0	11297	912	32	3	268	3	OSBP	11	59344396	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	423961	59344396	75662120	485	1929										
SYT7	9066	genome.wustl.edu	37	chr11	61291312	61291312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccgtacctgatgtgcccccGatgtccatggctttgaggtt	11	13	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:61291312G>A	ENST00000263846.4	-	7	1221	c.894C>T	c.(892-894)atC>atT	p.I298I	SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000540677.1_Silent_p.I373I|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000535826.1_Silent_p.I417I|SYT7_ENST00000539008.1_Silent_p.I581I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	298	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGCCCCCGATGTCCATGG	0.602																																																	0													299	283	288					11																	61291312		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.894C>T	11.37:g.61291312G>A			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.I298	ENST00000263846.4	37	c.894	CCDS31577.1	11																																																																																			SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin		0.602	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61291312	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	1.000	A	A	61291312	G	A	61291312	2	1	13	1	0	0	0	0	0	0	0	1	15509	1048	37	1		1	SYT7	11	61291312	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1946916	61291312	73715204	486	1930										
BEST1	7439	genome.wustl.edu	37	chr11	61723284	61723284	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcctggtgtcgggcttcgtCgaaggcaaggacgagcaagg	17	9	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:61723284C>T	ENST00000378043.4	+	4	985	c.342C>T	c.(340-342)gtC>gtT	p.V114V	BEST1_ENST00000449131.2_Silent_p.V54V|BEST1_ENST00000534553.1_Silent_p.V8V|BEST1_ENST00000435278.2_Silent_p.V114V|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000526988.1_Silent_p.V8V|BEST1_ENST00000378042.3_Silent_p.V54V	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	114					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGGCTTCGTCGAAGGCAAGG	0.667																																																	0													24	17	20					11																	61723284		2106	4063	6169	SO:0001819	synonymous_variant	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.342C>T	11.37:g.61723284C>T			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	pfam_Bestrophin/UPF0187	p.V54	ENST00000378043.4	37	c.162	CCDS31580.1	11																																																																																			BEST1	-	pfam_Bestrophin/UPF0187		0.667	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	C	NM_004183		61723284	1	no_errors	ENST00000449131	ensembl	human	known	70_37	silent	SNP	0.948	T	T	61723284	C	T	61723284	2	4	13	1	0	0	0	0	0	0	0	1	1405	871	31	1		1	BEST1	11	61723284	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	431972	61723284	73283232	487	1931										
AHNAK	79026	genome.wustl.edu	37	chr11	62284969	62284969	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccttgaggcccagacacactCagcccaggagcctggagtcc	11	16	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:62284969C>T	ENST00000378024.4	-	5	17194	c.16920G>A	c.(16918-16920)ctG>ctA	p.L5640L	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5640	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTCAGCCCAGGAG	0.502																																																	0													83	94	90					11																	62284969		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16920G>A	11.37:g.62284969C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L5640	ENST00000378024.4	37	c.16920	CCDS31584.1	11																																																																																			AHNAK	-	NULL		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62284969	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	silent	SNP	0.181	T	T	62284969	C	T	62284969	2	4	13	1	0	0	0	0	0	0	0	1	414	813	29	1		1	AHNAK	11	62284969	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	561685	62284969	72721547	488	1932										
AHNAK	79026	genome.wustl.edu	37	chr11	62297007	62297007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccttctggaccttcaatatCaatatcaccaacattcacat	2	14	5	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:62297007C>G	ENST00000378024.4	-	5	5156	c.4882G>C	c.(4882-4884)Gat>Cat	p.D1628H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1628					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCAATATCAATATCACCA	0.458																																																	0													101	109	106					11																	62297007		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4882G>C	11.37:g.62297007C>G	ENSP00000367263:p.Asp1628His		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1628H	ENST00000378024.4	37	c.4882	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	N	7.272	0.607327	0.14002	.	.	ENSG00000124942	ENST00000378024	T	0.01998	4.51	3.91	2.99	0.34606	.	.	.	.	.	T	0.10937	0.0267	M	0.92219	3.285	0.29182	N	0.876411	D	0.56287	0.975	P	0.53062	0.717	T	0.04053	-1.0981	9	0.72032	D	0.01	.	9.246	0.37527	0.0:0.8155:0.0:0.1845	.	1628	Q09666	AHNK_HUMAN	H	1628	ENSP00000367263:D1628H	ENSP00000367263:D1628H	D	-	1	0	AHNAK	62053583	0.819000	0.29175	0.768000	0.31515	0.008000	0.06430	1.369000	0.34227	0.776000	0.33473	-1.051000	0.02340	GAT	AHNAK	-	NULL		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62297007	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.949	G	G	62297007	C	G	62297007	3	3	13	1	0	0	0	0	1	0	0	0	414	826	29	1	12910	1	AHNAK	11	62297007	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	12038	62297007	72709509	489	1933										
SLC22A12	116085	genome.wustl.edu	37	chr11	64366018	64366018	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagtcggcacgatggctcctCaccacaggcaggctggattg	14	12	1	0	rs140154051		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64366018C>T	ENST00000377574.1	+	5	1608	c.861C>T	c.(859-861)ctC>ctT	p.L287L	SLC22A12_ENST00000377567.2_Silent_p.L179L|SLC22A12_ENST00000377572.1_Silent_p.L179L|SLC22A12_ENST00000336464.7_Silent_p.L253L|SLC22A12_ENST00000473690.1_Silent_p.L66L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	287					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GATGGCTCCTCACCACAGGCA	0.667																																																	0								C	,	0,4376		0,0,2188	22	17	18		861,198	2.1	0.2	11	dbSNP_134	18	1,8561		0,1,4280	no	coding-synonymous,coding-synonymous	SLC22A12	NM_144585.2,NM_153378.1	,	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	,	287/554,66/333	64366018	1,12937	2188	4281	6469	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.861C>T	11.37:g.64366018C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L287	ENST00000377574.1	37	c.861	CCDS8075.1	11																																																																																			SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	C	NM_144585		64366018	1	no_errors	ENST00000377574	ensembl	human	known	70_37	silent	SNP	0.321	T	T	64366018	C	T	64366018	2	4	13	1	0	0	0	0	0	0	0	1	14473	813	29	1		1	SLC22A12	11	64366018	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2069011	64366018	70640498	490	1934										
SLC22A12	116085	genome.wustl.edu	37	chr11	64366282	64366282	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccacccccgcctccacaggtCttgctttcagccatgcggga	9	18	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64366282C>G	ENST00000377574.1	+	6	1704	c.957C>G	c.(955-957)gtC>gtG	p.V319V	SLC22A12_ENST00000377567.2_Silent_p.V211V|SLC22A12_ENST00000377572.1_Silent_p.V211V|SLC22A12_ENST00000336464.7_Silent_p.V285V|SLC22A12_ENST00000473690.1_Silent_p.V98V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	319			Missing (affects urate transport). {ECO:0000269|PubMed:15327384}.		cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTCCACAGGTCTTGCTTTCAG	0.667																																																	0													28	28	28					11																	64366282		2201	4296	6497	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.957C>G	11.37:g.64366282C>G			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V319	ENST00000377574.1	37	c.957	CCDS8075.1	11																																																																																			SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	C	NM_144585		64366282	1	no_errors	ENST00000377574	ensembl	human	known	70_37	silent	SNP	0.003	G	G	64366282	C	G	64366282	2	3	13	1	0	0	0	0	0	0	0	1	14473	900	32	1		1	SLC22A12	11	64366282	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	264	64366282	70640234	491	1935										
RASGRP2	10235	genome.wustl.edu	37	chr11	64508520	64508520	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agccaactccgggttcaagtCaaactccgctgggaaggcgg	13	12	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64508520C>G	ENST00000354024.3	-	5	523	c.271G>C	c.(271-273)Gac>Cac	p.D91H	RASGRP2_ENST00000394429.1_Nonstop_Mutation_p.*67S|RASGRP2_ENST00000377487.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000394428.1_Nonstop_Mutation_p.*64S|RASGRP2_ENST00000377489.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000377486.3_Missense_Mutation_p.D91H|RASGRP2_ENST00000394430.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D91H|RASGRP2_ENST00000377497.3_Missense_Mutation_p.D91H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	91	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTTCAAGTCAAACTCCGCT	0.582											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													50	43	45					11																	64508520		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.271G>C	11.37:g.64508520C>G	ENSP00000338864:p.Asp91His	1077	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D91H	ENST00000354024.3	37	c.271	CCDS31598.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.39|14.39	2.522426|2.522426	0.44866|0.44866	.|.	.|.	ENSG00000068831|ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594;ENST00000377485|ENST00000394429;ENST00000394428	T;T;T;T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	4.32|4.32	4.32|4.32	0.51571|0.51571	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);|.	0.051705|.	0.85682|.	D|.	0.000000|.	T|.	0.54127|.	0.1839|.	L|L	0.31420|0.31420	0.93|0.93	0.46298|0.46298	D|D	0.99897|0.99897	D|.	0.58620|.	0.983|.	D|.	0.66602|.	0.945|.	T|.	0.50988|.	-0.8762|.	10|.	0.20046|.	T|.	0.44|.	-1.2658|-1.2658	14.6766|14.6766	0.68983|0.68983	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91|.	Q7LDG7|.	GRP2_HUMAN|.	H|S	91|67;64	ENSP00000366714:D91H;ENSP00000377953:D91H;ENSP00000366717:D91H;ENSP00000338864:D91H;ENSP00000399114:D91H;ENSP00000366706:D91H;ENSP00000366707:D91H;ENSP00000366709:D91H;ENSP00000377951:D91H;ENSP00000366705:D91H|.	ENSP00000338864:D91H|.	D|X	-|-	1|2	0|2	RASGRP2|RASGRP2	64265096|64265096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.689000|0.689000	0.40095|0.40095	1.651000|1.651000	0.37302|0.37302	2.117000|2.117000	0.64856|0.64856	0.313000|0.313000	0.20887|0.20887	GAC|TGA	RASGRP2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.582	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	C	NM_153819		64508520	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64508520	C	G	64508520	3	3	13	1	0	0	0	0	1	0	0	0	13105	826	29	1	1606	1	RASGRP2	11	64508520	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	142238	64508520	70497996	492	1936										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64606146	64606146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggatggttgagggtgtcgtCatccacatcaaagttggagg	15	6	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64606146C>T	ENST00000342711.5	-	8	1104	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGGGTGTCGTCATCCACATCA	0.622																																																	0													80	79	79					11																	64606146		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1105G>A	11.37:g.64606146C>T	ENSP00000345133:p.Asp369Asn			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D369N	ENST00000342711.5	37	c.1105	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739613	0.89573	.	.	ENSG00000171219	ENST00000342711	T	0.60171	0.21	4.72	4.72	0.59763	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.56097	D	0.000030	T	0.80154	0.4571	M	0.90369	3.11	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	D	0.84845	0.0810	10	0.87932	D	0	.	15.5446	0.76086	0.0:1.0:0.0:0.0	.	369	Q6DT37	MRCKG_HUMAN	N	369	ENSP00000345133:D369N	ENSP00000345133:D369N	D	-	1	0	CDC42BPG	64362722	1.000000	0.71417	0.992000	0.48379	0.736000	0.42039	6.045000	0.71020	2.355000	0.79922	0.561000	0.74099	GAC	CDC42BPG	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C		0.622	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	C	XM_290516		64606146	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64606146	C	T	64606146	3	4	13	1	0	0	0	0	1	0	0	0	3079	826	29	1	3670	1	CDC42BPG	11	64606146	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	97626	64606146	70400370	493	1937										
SLC22A20	440044	genome.wustl.edu	37	chr11	64993027	64993027	+	RNA	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcgcagttccggctctgggGagcaagggggctcctgcgaa	17	11	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64993027G>T	ENST00000525437.1	+	0	1081							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CGGCTCTGGGGAGCAAGGGGG	0.667											OREG0020652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"Solute carriers"	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64993027G>T		1080	B9EJB2|Q6ZN88	RNA	SNP	-	NULL	ENST00000525437.1	37	NULL		11																																																																																			SLC22A20	-	-		0.667	SLC22A20-003	KNOWN	basic	processed_transcript	SLC22A20	HGNC	pseudogene	OTTHUMT00000385336.1	G	NM_001004326		64993027	1	no_errors	ENST00000525264	ensembl	human	known	70_37	rna	SNP	0.001	T	T	64993027	G	T	64993027	1	4	13	0	1	0	0	0	0	0	0	0	14481	1175	41	3		3	SLC22A20	11	64993027	RNA	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	386881	64993027	70013489	494	1938										
KAT5	10524	genome.wustl.edu	37	chr11	65486388	65486388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caagaaggaggatgtcatctCcactctgcagtacctcaatc	8	12	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:65486388C>A	ENST00000377046.3	+	13	1642	c.1370C>A	c.(1369-1371)tCc>tAc	p.S457Y	KAT5_ENST00000352980.4_Missense_Mutation_p.S405Y|KAT5_ENST00000534650.1_Missense_Mutation_p.S246Y|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S438Y|KAT5_ENST00000341318.4_Missense_Mutation_p.S490Y	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	457	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GATGTCATCTCCACTCTGCAG	0.542																																																	0													137	104	115					11																	65486388		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1370C>A	11.37:g.65486388C>A	ENSP00000366245:p.Ser457Tyr		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.S490Y	ENST00000377046.3	37	c.1469	CCDS31610.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.789599|3.789599	0.70337|0.70337	.|.	.|.	ENSG00000172977|ENSG00000172977	ENST00000533596|ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	.|T;T;T;T	.|0.48836	.|0.81;0.83;0.8;0.83	4.74|4.74	3.82|3.82	0.43975|0.43975	.|Acyl-CoA N-acyltransferase (1);MOZ/SAS-like protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56217|0.56217	0.1970|0.1970	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.54772	.|0.968;0.885;0.85;0.916	.|P;P;P;P	.|0.58620	.|0.842;0.742;0.639;0.813	T|T	0.52540|0.52540	-0.8562|-0.8562	5|10	.|0.28530	.|T	.|0.3	-20.5207|-20.5207	12.7084|12.7084	0.57076|0.57076	0.0:0.8329:0.1671:0.0|0.0:0.8329:0.1671:0.0	.|.	.|438;490;405;457	.|B4E3C7;Q92993-3;Q92993-2;Q92993	.|.;.;.;KAT5_HUMAN	T|Y	39|457;405;490;438;246	.|ENSP00000366245:S457Y;ENSP00000344955:S405Y;ENSP00000340330:S490Y;ENSP00000434765:S438Y	.|ENSP00000340330:S490Y	P|S	+|+	1|2	0|0	KAT5|KAT5	65242964|65242964	1.000000|1.000000	0.71417|0.71417	0.873000|0.873000	0.34254|0.34254	0.984000|0.984000	0.73092|0.73092	7.139000|7.139000	0.77314|0.77314	1.203000|1.203000	0.43233|0.43233	0.555000|0.555000	0.69702|0.69702	CCA|TCC	KAT5	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	C	NM_006388		65486388	1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65486388	C	A	65486388	3	1	13	1	0	0	0	0	1	0	0	0	8003	855	30	3	1515	3	KAT5	11	65486388	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	493361	65486388	69520128	495	1939										
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546592	65546592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagagtggccaaggcccgggGgcccccatccagggctgccc	16	16	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:65546592G>A	ENST00000532090.2	-	2	1582	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	458					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						AAGGCCCGGGGGCCCCCATCC	0.667																																																	0													8	11	10					11																	65546592		1879	4075	5954	SO:0001583	missense	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1372C>T	11.37:g.65546592G>A	ENSP00000454303:p.Pro458Ser		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.P458S	ENST00000532090.2	37	c.1372	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546592	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	missense	SNP	0.949	A	A	65546592	G	A	65546592	3	1	13	1	0	0	0	0	1	0	0	0	4553	1232	43	4	1268	4	DKFZp761E198	11	65546592	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	60204	65546592	69459924	496	1940										
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546749	65546749	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agggccattgggtcatgcagGagactgggcaggagaccacg	17	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:65546749G>C	ENST00000532090.2	-	2	1425	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	405	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGTCATGCAGGAGACTGGGCA	0.642																																																	0													19	24	22					11																	65546749		2081	4203	6284	SO:0001819	synonymous_variant	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1215C>G	11.37:g.65546749G>C			A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L405	ENST00000532090.2	37	c.1215	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.642	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546749	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	silent	SNP	0.948	C	C	65546749	G	C	65546749	2	2	13	1	0	0	0	0	0	0	0	1	4553	1161	41	1		1	DKFZp761E198	11	65546749	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	157	65546749	69459767	497	1941										
RPS6KB2	6199	genome.wustl.edu	37	chr11	67200648	67200648	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaccgggctgtggactggtgGagcctgggggccctgatgta	18	9	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:67200648G>A	ENST00000312629.5	+	9	804	c.759G>A	c.(757-759)tgG>tgA	p.W253*	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGACTGGTGGAGCCTGGGGG	0.682																																																	0													15	18	17					11																	67200648		1955	4127	6082	SO:0001587	stop_gained	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.759G>A	11.37:g.67200648G>A	ENSP00000308413:p.Trp253*		B2RMZ9|B4DML8|O94809|Q9UEC1	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.W253*	ENST00000312629.5	37	c.759	CCDS41677.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.085085	0.94100	.	.	ENSG00000175634	ENST00000312629	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8166	0.88637	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000308413:W253X	W	+	3	0	RPS6KB2	66957224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.942000	0.92970	2.521000	0.84997	0.561000	0.74099	TGG	RPS6KB2	-	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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom		0.682	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	G	NM_003952		67200648	1	no_errors	ENST00000312629	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	67200648	G	A	67200648	4	1	13	1	0	0	0	0	0	1	0	0	13687	1183	41	1	793	1	RPS6KB2	11	67200648	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1653899	67200648	67805868	498	1942										
NADSYN1	55191	genome.wustl.edu	37	chr11	71195371	71195371	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttccagccaccacatcagtCtcaacatcgatccagccgtg	6	17	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:71195371C>G	ENST00000319023.2	+	15	1521	c.1333C>G	c.(1333-1335)Ctc>Gtc	p.L445V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.L185V|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.L74V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	445	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCACATCAGTCTCAACATCGA	0.562																																					Ovarian(79;763 1781 6490 50276)												0													109	98	102					11																	71195371		2200	4294	6494	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1333C>G	11.37:g.71195371C>G	ENSP00000326424:p.Leu445Val		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.L445V	ENST00000319023.2	37	c.1333	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	C	2.434	-0.330267	0.05314	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.63	3.69	0.42338	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.409826	0.21853	N	0.068144	T	0.23766	0.0575	N	0.21373	0.66	0.28849	N	0.896139	B;B	0.06786	0.001;0.001	B;B	0.16289	0.008;0.015	T	0.13764	-1.0497	10	0.19147	T	0.46	-15.528	12.2751	0.54730	0.0:0.827:0.173:0.0	.	185;445	B3KUU4;Q6IA69	.;NADE_HUMAN	V	445;185;74;74	ENSP00000326424:L445V;ENSP00000443718:L185V;ENSP00000437172:L74V;ENSP00000431820:L74V	ENSP00000326424:L445V	L	+	1	0	NADSYN1	70873019	0.962000	0.33011	0.082000	0.20525	0.379000	0.30106	2.232000	0.43018	0.910000	0.36722	0.456000	0.33151	CTC	NADSYN1	-	pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	C	NM_018161		71195371	1	no_errors	ENST00000319023	ensembl	human	known	70_37	missense	SNP	0.716	G	G	71195371	C	G	71195371	3	3	13	1	0	0	0	0	1	0	0	0	10161	913	32	1	1391	1	NADSYN1	11	71195371	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3994723	71195371	63811145	499	1943										
STARD10	10809	genome.wustl.edu	37	chr11	72492047	72492047	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgtgcagcgtccgatccatCtccacagcctgcacccagac	8	17	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:72492047C>T	ENST00000334805.6	-	2	1099	c.180G>A	c.(178-180)gaG>gaA	p.E60E	MIR4692_ENST00000583200.1_RNA|STARD10_ENST00000545082.1_Intron|STARD10_ENST00000538536.1_Intron|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000543304.1_Silent_p.E60E|STARD10_ENST00000538437.1_5'UTR	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	60	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCCGATCCATCTCCACAGCCT	0.597																																																	0													105	122	116					11																	72492047		2165	4257	6422	SO:0001819	synonymous_variant	10809			AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"StAR-related lipid transfer (START) domain containing"	10666	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 28", "START domain containing 10"	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.180G>A	11.37:g.72492047C>T			O60532	Silent	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E60	ENST00000334805.6	37	c.180	CCDS41688.1	11																																																																																			STARD10	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.597	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STARD10	HGNC	protein_coding	OTTHUMT00000397254.1	C			72492047	-1	no_errors	ENST00000334805	ensembl	human	known	70_37	silent	SNP	0.990	T	T	72492047	C	T	72492047	2	4	13	1	0	0	0	0	0	0	0	1	15285	912	32	1		1	STARD10	11	72492047	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1296676	72492047	62514469	500	1944										
FAT3	120114	genome.wustl.edu	37	chr11	92624271	92624271	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggagactcagcatcagactCaagtgtagacatcacatctt	8	10	5	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:92624271C>G	ENST00000298047.6	+	27	13779	c.13762C>G	c.(13762-13764)Caa>Gaa	p.Q4588E	FAT3_ENST00000525166.1_Missense_Mutation_p.Q4438E|FAT3_ENST00000409404.2_Missense_Mutation_p.Q4556E|FAT3_ENST00000533797.1_Missense_Mutation_p.Q891E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4588					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCAGACTCAAGTGTAGAC	0.507										TCGA Ovarian(4;0.039)																																							0													44	46	45					11																	92624271		2080	4204	6284	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13762C>G	11.37:g.92624271C>G	ENSP00000298047:p.Gln4588Glu		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q4588E	ENST00000298047.6	37	c.13762		11	.	.	.	.	.	.	.	.	.	.	C	1.325	-0.598265	0.03744	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.83075	-0.28;-0.47;-0.31;-1.68	5.73	5.73	0.89815	.	.	.	.	.	T	0.71685	0.3369	N	0.12746	0.255	0.80722	D	1	B;B	0.19200	0.0;0.034	B;B	0.28465	0.0;0.09	T	0.66488	-0.5911	9	0.06891	T	0.86	.	19.8991	0.96978	0.0:1.0:0.0:0.0	.	4556;4588	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	E	4588;4556;4438;891	ENSP00000298047:Q4588E;ENSP00000387040:Q4556E;ENSP00000432586:Q4438E;ENSP00000436399:Q891E	ENSP00000298047:Q4588E	Q	+	1	0	FAT3	92263919	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.684000	0.46951	2.708000	0.92522	0.655000	0.94253	CAA	FAT3	-	NULL		0.507	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92624271	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92624271	C	G	92624271	3	3	13	1	0	0	0	0	1	0	0	0	5709	827	29	1	13764	1	FAT3	11	92624271	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	20132224	92624271	42382245	501	1945										
MMP10	4319	genome.wustl.edu	37	chr11	102645984	102645984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	catccaaatatgatggaagaGagggccaaaatgcagaaatc	10	7	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:102645984G>C	ENST00000279441.4	-	7	1037	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	334					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGATGGAAGAGAGGGCCAAAA	0.353																																																	0													69	70	70					11																	102645984		2203	4299	6502	SO:0001583	missense	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1001C>G	11.37:g.102645984G>C	ENSP00000279441:p.Ser334Cys		B2R9X9|Q53HH9	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.S334C	ENST00000279441.4	37	c.1001	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030502	0.19512	.	.	ENSG00000166670	ENST00000279441	T	0.02763	4.17	4.23	3.32	0.38043	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.723751	0.12799	N	0.438173	T	0.14743	0.0356	M	0.90252	3.1	0.09310	N	0.999999	D	0.71674	0.998	D	0.65573	0.936	T	0.10132	-1.0643	10	0.72032	D	0.01	.	5.3887	0.16231	0.229:0.1623:0.6087:0.0	.	334	P09238	MMP10_HUMAN	C	334	ENSP00000279441:S334C	ENSP00000279441:S334C	S	-	2	0	MMP10	102151194	0.000000	0.05858	0.954000	0.39281	0.121000	0.20230	0.655000	0.24933	1.117000	0.41842	0.650000	0.86243	TCT	MMP10	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.353	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	G			102645984	-1	no_errors	ENST00000279441	ensembl	human	known	70_37	missense	SNP	0.099	C	C	102645984	G	C	102645984	3	2	13	1	0	0	0	0	1	0	0	0	9672	942	33	1	445	1	MMP10	11	102645984	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10021713	102645984	32360532	502	1946										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103128387	103128387	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtgccagcaagatgtacttCattatttctgatttgtccaa	7	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:103128387C>G	ENST00000375735.2	+	69	10656	c.10512C>G	c.(10510-10512)ttC>ttG	p.F3504L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F3511L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3504					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGTACTTCATTATTTCTG	0.423																																																	0													139	130	133					11																	103128387		1877	4103	5980	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10512C>G	11.37:g.103128387C>G	ENSP00000364887:p.Phe3504Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F3511L	ENST00000375735.2	37	c.10533	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207265	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.72051	-0.62;-0.62	6.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	H	0.95679	3.705	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.75020	0.945;0.985	D	0.89089	0.3481	10	0.87932	D	0	.	10.3471	0.43911	0.0:0.8389:0.0:0.1611	.	3504;3511	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	3504;3511	ENSP00000364887:F3504L;ENSP00000381167:F3511L	ENSP00000364887:F3504L	F	+	3	2	DYNC2H1	102633597	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.209000	0.32357	2.882000	0.98803	0.655000	0.94253	TTC	DYNC2H1	-	NULL		0.423	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103128387	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103128387	C	G	103128387	3	3	13	1	0	0	0	0	1	0	0	0	4856	825	29	1	10811	1	DYNC2H1	11	103128387	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	482403	103128387	31878129	503	1947										
PIH1D2	120379	genome.wustl.edu	37	chr11	111942361	111942361	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctctcaattatttgtacctGatatctcagttgtatcttct	4	9	5	1	rs374544297		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:111942361G>C	ENST00000280350.4	-	3	521	c.299C>G	c.(298-300)tCa>tGa	p.S100*	C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000530641.1_Nonsense_Mutation_p.S100*|PIH1D2_ENST00000532211.1_Nonsense_Mutation_p.S100*|PIH1D2_ENST00000431456.1_Nonsense_Mutation_p.S100*|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Nonsense_Mutation_p.S100*|C11orf57_ENST00000530104.1_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	100										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATTTGTACCTGATATCTCAGT	0.373																																																	0								G	stop/SER,stop/SER	1,4401	2.1+/-5.4	0,1,2200	115	111	113		299,299	5.1	1	11		113	0,8594		0,0,4297	no	stop-gained,stop-gained	PIH1D2	NM_001082619.1,NM_138789.3	,	0,1,6497	CC,CG,GG		0.0,0.0227,0.0077	,	100/289,100/316	111942361	1,12995	2201	4297	6498	SO:0001587	stop_gained	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.299C>G	11.37:g.111942361G>C	ENSP00000280350:p.Ser100*		B4DU48|E9PD82	Nonsense_Mutation	SNP	pfam_PIH	p.S100*	ENST00000280350.4	37	c.299	CCDS8355.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.10|13.10	2.137258|2.137258	0.37728|0.37728	2.27E-4|2.27E-4	0.0|0.0	ENSG00000150773|ENSG00000150773	ENST00000525072|ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T|.	0.17054|.	2.3|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.792485	.|0.11686	.|N	.|0.539397	T|.	0.66567|.	0.2802|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69083|.	-0.5239|.	5|.	0.48119|0.40728	T|T	0.1|0.16	-2.8543|-2.8543	15.5031|15.5031	0.75716|0.75716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	72|100;100;100;100;100;65	ENSP00000431336:I72M|.	ENSP00000431336:I72M|ENSP00000280350:S100X	I|S	-|-	3|2	3|0	PIH1D2|PIH1D2	111447571|111447571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.527000|0.527000	0.34593|0.34593	5.181000|5.181000	0.65054|0.65054	2.647000|2.647000	0.89833|0.89833	0.491000|0.491000	0.48974|0.48974	ATC|TCA	PIH1D2	-	pfam_PIH		0.373	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D2	HGNC	protein_coding	OTTHUMT00000391916.1	G	NM_138789		111942361	-1	no_errors	ENST00000280350	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	111942361	G	C	111942361	4	2	13	1	0	0	0	0	0	1	0	0	11931	1294	45	1	722	1	PIH1D2	11	111942361	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8813974	111942361	23064155	504	1948										
BCO2	83875	genome.wustl.edu	37	chr11	112071405	112071405	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctgtggaaaattgccacttCtaaaattcggggaaaggcct	10	9	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:112071405C>T	ENST00000357685.5	+	7	1070	c.935C>T	c.(934-936)tCt>tTt	p.S312F	BCO2_ENST00000532593.1_Missense_Mutation_p.S207F|BCO2_ENST00000393032.2_Missense_Mutation_p.S278F|BCO2_ENST00000526088.1_Missense_Mutation_p.S278F|BCO2_ENST00000531169.1_Missense_Mutation_p.S278F|BCO2_ENST00000438022.1_Missense_Mutation_p.S278F|BCO2_ENST00000361053.4_Missense_Mutation_p.S239F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	312					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTGCCACTTCTAAAATTCGG	0.403																																					GBM(177;1916 2099 21049 29541 39946)												0													100	103	102					11																	112071405		2201	4297	6498	SO:0001583	missense	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.935C>T	11.37:g.112071405C>T	ENSP00000350314:p.Ser312Phe		B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.S312F	ENST00000357685.5	37	c.935	CCDS8358.2	11	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580116	0.65992	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.95342	-3.68;-3.67;-3.62;-3.67;-3.66;-3.53;-3.67	5.54	4.63	0.57726	.	0.262064	0.44688	D	0.000427	D	0.96914	0.8992	M	0.85462	2.755	0.39698	D	0.97114	P;D;P;D	0.76494	0.885;0.999;0.94;0.967	P;D;P;P	0.77004	0.733;0.989;0.837;0.837	D	0.97328	0.9948	10	0.72032	D	0.01	-11.6281	9.9835	0.41828	0.0:0.7895:0.1378:0.0727	.	289;239;312;139	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	F	312;278;239;278;278;207;278	ENSP00000350314:S312F;ENSP00000376752:S278F;ENSP00000354338:S239F;ENSP00000414843:S278F;ENSP00000436615:S278F;ENSP00000431802:S207F;ENSP00000437053:S278F	ENSP00000350314:S312F	S	+	2	0	BCO2	111576615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.488000	0.45276	1.354000	0.45846	0.585000	0.79938	TCT	BCO2	-	pfam_Carotenoid_Oase		0.403	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3	C	NM_001037290		112071405	1	no_errors	ENST00000357685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112071405	C	T	112071405	3	4	13	1	0	0	0	0	1	0	0	0	1386	913	32	1	961	1	BCO2	11	112071405	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	129044	112071405	22935111	505	1949										
USP28	57646	genome.wustl.edu	37	chr11	113711322	113711322	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttaaaaatatcatacctGaataacagcactaaaccaac	2	11	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:113711322G>A	ENST00000003302.4	-	5	600	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	USP28_ENST00000545540.1_Nonsense_Mutation_p.Q53*|USP28_ENST00000537706.1_Nonsense_Mutation_p.Q178*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q178*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	178	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q178*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TATCATACCTGAATAACAGCA	0.353																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - Nonsense(1)	lung(1)											108	98	102					11																	113711322		2201	4296	6497	SO:0001587	stop_gained	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.532C>T	11.37:g.113711322G>A	ENSP00000003302:p.Gln178*		B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.Q178*	ENST00000003302.4	37	c.532	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.582212	0.96578	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6283	15.1436	0.72630	0.0:0.0:1.0:0.0	.	.	.	.	X	178;178;53;178;106	.	ENSP00000003302:Q178X	Q	-	1	0	USP28	113216532	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.067000	0.93955	2.536000	0.85505	0.591000	0.81541	CAG	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.353	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	G			113711322	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	113711322	G	A	113711322	4	1	13	1	0	0	0	0	0	1	0	0	17089	1299	45	1	2785	1	USP28	11	113711322	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1639917	113711322	21295194	506	1950										
DSCAML1	57453	genome.wustl.edu	37	chr11	117342593	117342593	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaggtgctcaccggcctcctCagtgctgatggtgagctcct	13	13	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:117342593C>T	ENST00000321322.6	-	15	3125	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E772K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	982	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCCTCCTCAGTGCTGATG	0.582																																																	0													119	108	111					11																	117342593		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3124G>A	11.37:g.117342593C>T	ENSP00000315465:p.Glu1042Lys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1042K	ENST00000321322.6	37	c.3124	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742732	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.52754	0.65;0.65	4.07	4.07	0.47477	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44664	0.1304	N	0.16602	0.42	0.58432	D	0.999997	P	0.35139	0.486	P	0.46585	0.521	T	0.50154	-0.8861	9	0.45353	T	0.12	.	16.4552	0.84009	0.0:1.0:0.0:0.0	.	982	Q8TD84	DSCL1_HUMAN	K	772;1042;749	ENSP00000434335:E772K;ENSP00000315465:E1042K	ENSP00000315465:E1042K	E	-	1	0	DSCAML1	116847803	1.000000	0.71417	0.915000	0.36163	0.650000	0.38633	5.838000	0.69388	2.075000	0.62263	0.455000	0.32223	GAG	DSCAML1	-	superfamily_Fibronectin_type3		0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117342593	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	0.997	T	T	117342593	C	T	117342593	3	4	13	1	0	0	0	0	1	0	0	0	4779	835	29	1	3293	1	DSCAML1	11	117342593	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3631271	117342593	17663923	507	1951										
VPS11	55823	genome.wustl.edu	37	chr11	118938588	118938588	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttcgacaaggagctggtGaaggagccgctgagcaatga	14	8	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:118938588G>T	ENST00000300793.6	+	1	96	c.54G>T	c.(52-54)gtG>gtT	p.V18V	RP11-110I1.13_ENST00000607709.1_RNA|RP11-110I1.14_ENST00000607857.1_lincRNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	18					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)		AGGAGCTGGTGAAGGAGCCGC	0.622																																																	0													19	22	21					11																	118938588		1913	4106	6019	SO:0001819	synonymous_variant	55823			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.54G>T	11.37:g.118938588G>T			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.622	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		G	NM_021729		118938588	1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	T	T	118938588	G	T	118938588	2	4	13	1	0	0	0	0	0	0	0	1	17219	1277	45	3		3	VPS11	11	118938588	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1595995	118938588	16067928	508	1952										
CDON	50937	genome.wustl.edu	37	chr11	125887079	125887079	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtccgccgggtcaacgctatCagtggcaagatgagaataca	12	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:125887079C>T	ENST00000392693.3	-	6	959	c.832G>A	c.(832-834)Gat>Aat	p.D278N	CDON_ENST00000263577.7_Missense_Mutation_p.D278N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	278	Ig-like C2-type 3.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCAACGCTATCAGTGGCAAGA	0.498																																																	0													101	93	96					11																	125887079		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.832G>A	11.37:g.125887079C>T	ENSP00000376458:p.Asp278Asn		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D278N	ENST00000392693.3	37	c.832	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187733	0.21954	.	.	ENSG00000064309	ENST00000392693;ENST00000263577	T;T	0.67171	-0.25;-0.25	5.06	5.06	0.68205	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110781	0.39407	N	0.001378	T	0.51736	0.1692	N	0.12443	0.215	0.19300	N	0.999974	B;B	0.29136	0.234;0.121	B;B	0.27170	0.077;0.046	T	0.50372	-0.8836	10	0.45353	T	0.12	-7.8067	18.8156	0.92076	0.0:1.0:0.0:0.0	.	278;278	Q4KMG0;Q4KMG0-2	CDON_HUMAN;.	N	278	ENSP00000376458:D278N;ENSP00000263577:D278N	ENSP00000263577:D278N	D	-	1	0	CDON	125392289	0.978000	0.34361	0.023000	0.16930	0.018000	0.09664	4.011000	0.57124	2.496000	0.84212	0.563000	0.77884	GAT	CDON	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.498	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	C	NM_016952		125887079	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	missense	SNP	0.321	T	T	125887079	C	T	125887079	3	4	13	1	0	0	0	0	1	0	0	0	3175	826	29	1	3022	1	CDON	11	125887079	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6948491	125887079	9119437	509	1953										
GLB1L2	89944	genome.wustl.edu	37	chr11	134226237	134226237	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgccgtgcaggtggagaatGaatatggttcctataataaa	11	5	0	2	rs146193618		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:134226237G>A	ENST00000535456.2	+	6	789	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GLB1L2_ENST00000389881.3_Missense_Mutation_p.E201K|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E201K	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	201					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGTGGAGAATGAATATGGTTC	0.478																																																	0													195	199	198					11																	134226237		2201	4297	6498	SO:0001583	missense	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.601G>A	11.37:g.134226237G>A	ENSP00000444628:p.Glu201Lys		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E201K	ENST00000535456.2	37	c.601	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.095433	0.94197	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.99822	-6.94;-6.94;-6.94	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.99435	4.565	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.96276	0.9202	10	0.87932	D	0	-27.4646	16.8905	0.86086	0.0:0.0:1.0:0.0	.	201	Q8IW92	GLBL2_HUMAN	K	201	ENSP00000344659:E201K;ENSP00000444628:E201K;ENSP00000374531:E201K	ENSP00000344659:E201K	E	+	1	0	GLB1L2	133731447	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.379000	0.79691	2.732000	0.93576	0.655000	0.94253	GAA	GLB1L2	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35		0.478	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	HGNC	protein_coding	OTTHUMT00000393629.2	G	NM_138342		134226237	1	no_errors	ENST00000339772	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134226237	G	A	134226237	3	1	13	1	0	0	0	0	1	0	0	0	6448	1291	45	1	623	1	GLB1L2	11	134226237	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8339158	134226237	780279	510	1954										
LRTM2	654429	genome.wustl.edu	37	chr12	1940559	1940559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctcgcttcgctccaaccgtCtgcagaatctggaccggctg	10	15	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:1940559C>G	ENST00000543818.1	+	4	1368	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.L176V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.L176V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	176						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTCCAACCGTCTGCAGAATCT	0.617																																																	0													50	55	53					12																	1940559		2203	4300	6503	SO:0001583	missense	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.526C>G	12.37:g.1940559C>G	ENSP00000446278:p.Leu176Val		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L176V	ENST00000543818.1	37	c.526	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562747	0.45694	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.65916	-0.18;-0.18;-0.18	4.86	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.81095	-0.1088	10	0.72032	D	0.01	.	12.4451	0.55647	0.0:0.7819:0.0:0.2181	.	176	Q8N967	LRTM2_HUMAN	V	176	ENSP00000446278:L176V;ENSP00000299194:L176V;ENSP00000444737:L176V	ENSP00000299194:L176V	L	+	1	2	LRTM2	1810820	1.000000	0.71417	0.995000	0.50966	0.244000	0.25665	2.726000	0.47302	0.857000	0.35407	0.561000	0.74099	CTG	LRTM2	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	C			1940559	1	no_errors	ENST00000299194	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1940559	C	G	1940559	3	3	13	1	0	0	0	0	1	0	0	0	9068	912	32	1	532	1	LRTM2	12	1940559	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		1940559	131911336	511	1955										
CACNA1C	775	genome.wustl.edu	37	chr12	2788756	2788756	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actgagtcgccatcccacgaGaagctggtggactccacctt	10	14	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:2788756G>C	ENST00000347598.4	+	44	5382	c.5382G>C	c.(5380-5382)gaG>gaC	p.E1794D	CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1771D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1766D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1763D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1774D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1765D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1754D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1752D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1754D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1765D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1765D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1787D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1794					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCCCACGAGAAGCTGGTGG	0.657																																																	0													66	80	75					12																	2788756		2170	4262	6432	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5382G>C	12.37:g.2788756G>C	ENSP00000266376:p.Glu1794Asp		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1746D	ENST00000347598.4	37	c.5238	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419897	0.25552	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96300	-3.92;-3.92;-3.91;-3.9;-3.91;-3.93;-3.83;-3.86;-3.92;-3.83;-3.84;-3.92;-3.96;-3.83;-3.74;-3.97;-3.93;-3.91;-3.94;-3.84;-3.93;-3.97	4.63	4.63	0.57726	.	7739.210000	0.00166	N	0.000000	D	0.97663	0.9234	L	0.57536	1.79	0.47123	D	0.99932	P;D;P;B;D;P;P;P;B;B;P;P;P;P;P;P;P;B;P;B;P;P;P;P;P	0.67145	0.57;0.996;0.739;0.133;0.993;0.888;0.571;0.816;0.356;0.351;0.816;0.571;0.571;0.812;0.622;0.715;0.739;0.206;0.887;0.001;0.571;0.888;0.816;0.835;0.739	B;D;B;B;D;P;B;P;B;B;P;B;B;P;B;P;B;B;B;B;B;P;B;B;B	0.77557	0.09;0.923;0.291;0.09;0.99;0.624;0.229;0.469;0.185;0.146;0.469;0.124;0.163;0.624;0.079;0.489;0.291;0.185;0.297;0.012;0.229;0.624;0.375;0.269;0.291	D	0.91094	0.4909	10	0.21014	T	0.42	.	12.166	0.54131	0.0824:0.0:0.9176:0.0	.	437;1787;1743;1794;1746;1765;1746;1763;1774;1746;1766;1746;1706;1794;1746;1746;1746;1754;1752;1754;1735;1765;1765;1746;1746	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	1771;1746;1746;1774;1746;1765;1765;1754;1746;1794;1766;1746;1787;1763;1746;1752;1765;1746;1746;1746;1746;1754;1576	ENSP00000336982:E1771D;ENSP00000382563:E1746D;ENSP00000382552:E1746D;ENSP00000382547:E1774D;ENSP00000382506:E1746D;ENSP00000382530:E1765D;ENSP00000382546:E1765D;ENSP00000382500:E1754D;ENSP00000382549:E1746D;ENSP00000266376:E1794D;ENSP00000382515:E1766D;ENSP00000382510:E1746D;ENSP00000341092:E1787D;ENSP00000382537:E1763D;ENSP00000329877:E1746D;ENSP00000382557:E1752D;ENSP00000385724:E1765D;ENSP00000382512:E1746D;ENSP00000382542:E1746D;ENSP00000382526:E1746D;ENSP00000385896:E1746D;ENSP00000382504:E1754D	ENSP00000323129:E1576D	E	+	3	2	CACNA1C	2659017	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	3.923000	0.56469	2.406000	0.81754	0.305000	0.20034	GAG	CACNA1C	-	prints_VDCC_L_a1csu		0.657	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2788756	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2788756	G	C	2788756	3	2	13	1	0	0	0	0	1	0	0	0	2545	933	33	1	5787	1	CACNA1C	12	2788756	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	848197	2788756	131063139	512	1956										
TNFRSF1A	7132	genome.wustl.edu	37	chr12	6442925	6442925	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttcggcatttggagcagctGaggcagtgtctgaggtggtt	16	6	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:6442925G>C	ENST00000162749.2	-	3	599	c.300C>G	c.(298-300)ctC>ctG	p.L100L	TNFRSF1A_ENST00000366159.4_Silent_p.L100L|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Intron	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	100					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TGGAGCAGCTGAGGCAGTGTC	0.592																																																	0													63	53	57					12																	6442925		2202	4297	6499	SO:0001819	synonymous_variant	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.300C>G	12.37:g.6442925G>C			A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Nonsense_Mutation	SNP	NULL	p.S49*	ENST00000162749.2	37	c.146	CCDS8542.1	12																																																																																			TNFRSF1A	-	NULL		0.592	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	G	NM_001065		6442925	-1	no_errors	ENST00000534885	ensembl	human	known	70_37	nonsense	SNP	0.486	C	C	6442925	G	C	6442925	2	2	13	1	0	0	0	0	0	0	0	1	16323	1277	45	1		1	TNFRSF1A	12	6442925	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3654169	6442925	127408970	513	1957										
ATN1	1822	genome.wustl.edu	37	chr12	7048166	7048166	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgggccagccctgcggcctGacatgtcctatgctgagcgg	14	14	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:7048166G>C	ENST00000356654.4	+	7	3277	c.3040G>C	c.(3040-3042)Gac>Cac	p.D1014H	ATN1_ENST00000396684.2_Missense_Mutation_p.D1014H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1014					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGCGGCCTGACATGTCCTA	0.672																																																	0													46	51	49					12																	7048166		2201	4298	6499	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3040G>C	12.37:g.7048166G>C	ENSP00000349076:p.Asp1014His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.D1014H	ENST00000356654.4	37	c.3040	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225212	0.58668	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.43688	0.94;0.94;0.94	4.82	4.82	0.62117	.	0.218305	0.22808	U	0.055397	T	0.47451	0.1446	N	0.11427	0.14	0.50632	D	0.999889	D	0.71674	0.998	D	0.73708	0.981	T	0.58233	-0.7672	10	0.66056	D	0.02	.	18.5267	0.90975	0.0:0.0:1.0:0.0	.	1014	P54259	ATN1_HUMAN	H	1014;1014;1014;599	ENSP00000349076:D1014H;ENSP00000379915:D1014H;ENSP00000441744:D1014H	ENSP00000229279:D599H	D	+	1	0	ATN1	6918427	1.000000	0.71417	0.999000	0.59377	0.196000	0.23810	9.596000	0.98267	2.684000	0.91462	0.650000	0.86243	GAC	ATN1	-	pfam_Atrophin-like,prints_Atrophin-1		0.672	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	G	NM_001940		7048166	1	no_errors	ENST00000356654	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7048166	G	C	7048166	3	2	13	1	0	0	0	0	1	0	0	0	1112	1290	45	1	3062	1	ATN1	12	7048166	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	605241	7048166	126803729	514	1958										
PEX5	5830	genome.wustl.edu	37	chr12	7356091	7356091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatggcaaaacgggatgctGaggcccacccctggctttct	12	12	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:7356091G>A	ENST00000455147.2	+	11	1490	c.910G>A	c.(910-912)Gag>Aag	p.E304K	PEX5_ENST00000266563.5_Missense_Mutation_p.E267K|PEX5_ENST00000434354.2_Missense_Mutation_p.E319K|PEX5_ENST00000420616.2_Missense_Mutation_p.E304K|PEX5_ENST00000412720.2_Missense_Mutation_p.E325K|PEX5_ENST00000266564.3_Missense_Mutation_p.E296K	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	304					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ACGGGATGCTGAGGCCCACCC	0.468																																																	0													116	103	107					12																	7356091		2203	4300	6503	SO:0001583	missense	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.910G>A	12.37:g.7356091G>A	ENSP00000400647:p.Glu304Lys		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E319K	ENST00000455147.2	37	c.955	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225521	0.79576	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	D;D;D;D;D;D;D	0.88431	-2.37;-2.26;-2.38;-2.37;-2.38;-2.24;-2.3	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.89354	0.6691	L	0.46157	1.445	0.80722	D	1	D;B;B;B;B	0.53745	0.962;0.032;0.415;0.046;0.012	P;B;B;B;B	0.50136	0.632;0.028;0.065;0.096;0.037	D	0.89820	0.3988	10	0.49607	T	0.09	.	17.9082	0.88926	0.0:0.0:1.0:0.0	.	325;319;304;296;267	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	K	304;267;319;255;304;325;274;296	ENSP00000400647:E304K;ENSP00000266563:E267K;ENSP00000407401:E319K;ENSP00000410159:E304K;ENSP00000391601:E325K;ENSP00000379877:E274K;ENSP00000266564:E296K	ENSP00000266563:E267K	E	+	1	0	PEX5	7247358	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	9.256000	0.95535	2.469000	0.83416	0.462000	0.41574	GAG	PEX5	-	NULL		0.468	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	G	NM_000319		7356091	1	no_errors	ENST00000434354	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7356091	G	A	7356091	3	1	13	1	0	0	0	0	1	0	0	0	11772	1291	45	1	989	1	PEX5	12	7356091	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	307925	7356091	126495804	515	1959										
CD163L1	283316	genome.wustl.edu	37	chr12	7550886	7550886	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggttacaatcacatcctctCtgtgtacacaattatgcttt	5	10	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:7550886C>A	ENST00000313599.3	-	7	1760	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	CD163L1_ENST00000396630.1_Missense_Mutation_p.R568I|CD163L1_ENST00000416109.2_Missense_Mutation_p.R578I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	568	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACATCCTCTCTGTGTACACA	0.408																																																	0													171	163	166					12																	7550886		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1703G>T	12.37:g.7550886C>A	ENSP00000315945:p.Arg568Ile		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R568I	ENST00000313599.3	37	c.1703	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204872	0.58234	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	2.77	-3.58	0.04597	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.528260	0.04959	U	0.461687	T	0.44329	0.1288	L	0.45422	1.42	0.09310	N	1	D;D	0.55172	0.97;0.97	P;P	0.59761	0.863;0.736	T	0.51148	-0.8742	10	0.38643	T	0.18	.	9.2504	0.37551	0.0:0.6567:0.2018:0.1416	.	578;568	E7EVK4;Q9NR16	.;C163B_HUMAN	I	568;578;568	ENSP00000315945:R568I;ENSP00000393474:R578I;ENSP00000379871:R568I	ENSP00000315945:R568I	R	-	2	0	CD163L1	7442153	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-3.472000	0.00459	-0.396000	0.07703	0.460000	0.39030	AGA	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	C	NM_174941		7550886	-1	no_errors	ENST00000313599	ensembl	human	known	70_37	missense	SNP	0.000	A	A	7550886	C	A	7550886	3	1	13	1	0	0	0	0	1	0	0	0	2973	913	32	3	2710	3	CD163L1	12	7550886	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	194795	7550886	126301009	516	1960										
PZP	5858	genome.wustl.edu	37	chr12	9355190	9355190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actttgggtgttcagtaccaGaactgtgttcctcttcctga	9	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:9355190G>T	ENST00000261336.2	-	3	386	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	120					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCAGTACCAGAACTGTGTTC	0.473																																					Melanoma(125;1402 1695 4685 34487 38571)												0													127	126	127					12																	9355190		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.358C>A	12.37:g.9355190G>T	ENSP00000261336:p.Leu120Met		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L120M	ENST00000261336.2	37	c.358	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	G	3.409	-0.120524	0.06838	.	.	ENSG00000126838	ENST00000261336	T	0.42513	0.97	2.3	-0.849	0.10723	.	0.000000	0.41194	U	0.000924	T	0.32041	0.0816	M	0.78637	2.42	0.09310	N	1	B	0.32731	0.382	B	0.28553	0.091	T	0.14755	-1.0461	10	0.25106	T	0.35	.	2.7378	0.05245	0.3312:0.2548:0.414:0.0	.	120	P20742	PZP_HUMAN	M	120	ENSP00000261336:L120M	ENSP00000261336:L120M	L	-	1	2	PZP	9246457	0.000000	0.05858	0.002000	0.10522	0.168000	0.22595	-1.269000	0.02834	-0.200000	0.10300	0.305000	0.20034	CTG	PZP	-	NULL		0.473	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	G	NM_002864		9355190	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.002	T	T	9355190	G	T	9355190	3	4	13	1	0	0	0	0	1	0	0	0	12899	933	33	3	4226	3	PZP	12	9355190	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1804304	9355190	124496705	517	1961										
CLEC12A	160364	genome.wustl.edu	37	chr12	10124202	10124202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttacatattcatcaatgtctGaagaagttacttatgcagat	6	6	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:10124202G>A	ENST00000304361.4	+	1	189	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CLEC12A_ENST00000355690.4_Missense_Mutation_p.E13K|CLEC12A_ENST00000350667.4_Missense_Mutation_p.E3K|CLEC12A_ENST00000434319.2_Missense_Mutation_p.E3K	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATCAATGTCTGAAGAAGTTAC	0.323																																					Melanoma(197;1487 2125 16611 22221 34855)												0													97	102	100					12																	10124202		2203	4298	6501	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.7G>A	12.37:g.10124202G>A	ENSP00000302804:p.Glu3Lys		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E13K	ENST00000304361.4	37	c.37	CCDS8608.1	12	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612382	0.66672	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.08458	4.46;3.09;4.48;3.93;3.81	4.12	4.12	0.48240	.	.	.	.	.	T	0.24967	0.0606	M	0.68593	2.085	0.34272	D	0.68117	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73380	0.98;0.976;0.971	T	0.16453	-1.0402	9	0.72032	D	0.01	.	12.1542	0.54066	0.0:0.0:1.0:0.0	.	3;3;13	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	K	13;3;3;3;3	ENSP00000347916:E13K;ENSP00000379764:E3K;ENSP00000302804:E3K;ENSP00000405244:E3K;ENSP00000345448:E3K	ENSP00000302804:E3K	E	+	1	0	CLEC12A	10015469	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.018000	0.49625	2.579000	0.87056	0.655000	0.94253	GAA	CLEC12A	-	NULL		0.323	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC12A	HGNC	protein_coding	OTTHUMT00000399545.1	G	NM_138337		10124202	1	no_errors	ENST00000355690	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10124202	G	A	10124202	3	1	13	1	0	0	0	0	1	0	0	0	3502	1291	45	1	9	1	CLEC12A	12	10124202	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	769012	10124202	123727693	518	1962										
KLRD1	3824	genome.wustl.edu	37	chr12	10464197	10464197	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatccagcctgcttcagcttCaaaacacagatgaactggca	7	12	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:10464197C>T	ENST00000381907.4	+	5	500	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	KLRD1_ENST00000543777.1_Nonsense_Mutation_p.Q79*|KLRD1_ENST00000381908.3_Nonsense_Mutation_p.Q100*|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.Q100*|KLRD1_ENST00000350274.5_Nonsense_Mutation_p.Q69*|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.Q100*|KLRD1_ENST00000538997.1_3'UTR	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	100	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCTTCAGCTTCAAAACACAGA	0.383																																																	0													71	65	67					12																	10464197		2203	4300	6503	SO:0001587	stop_gained	3824			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.298C>T	12.37:g.10464197C>T	ENSP00000371332:p.Gln100*		O43321|O43773|Q9UBE3|Q9UEQ0	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q100*	ENST00000381907.4	37	c.298	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536586	0.85812	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	.	.	.	5.77	-3.1	0.05315	.	0.986917	0.08258	N	0.973491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	1.3173	0.02110	0.3653:0.2457:0.2366:0.1524	.	.	.	.	X	69;100;100;100;69;100;79	.	ENSP00000338130:Q100X	Q	+	1	0	KLRD1	10355464	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-2.931000	0.00688	-0.175000	0.10725	0.655000	0.94253	CAA	KLRD1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.383	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	C	NM_002262		10464197	1	no_errors	ENST00000381908	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	10464197	C	T	10464197	4	4	13	1	0	0	0	0	0	1	0	0	8439	827	29	1	312	1	KLRD1	12	10464197	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	339995	10464197	123387698	519	1963										
TAS2R13	50838	genome.wustl.edu	37	chr12	11061381	11061381	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaccgacactgaaaatgtttCaaagtcactcatactgaaat	6	9	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11061381C>T	ENST00000390677.2	-	1	780	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	173					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAAATGTTTCAAAGTCACTC	0.348																																																	0													94	98	97					12																	11061381		2203	4300	6503	SO:0001583	missense	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.517G>A	12.37:g.11061381C>T	ENSP00000375095:p.Glu173Lys		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.E173K	ENST00000390677.2	37	c.517	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	C	1.119	-0.655971	0.03480	.	.	ENSG00000212128	ENST00000390677	T	0.00816	5.66	3.15	-3.61	0.04556	.	7.753460	0.00754	U	0.001094	T	0.00695	0.0023	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.16722	0.016	T	0.45483	-0.9258	10	0.07030	T	0.85	.	2.185	0.03884	0.2908:0.3441:0.2614:0.1037	.	173	Q9NYV9	T2R13_HUMAN	K	173	ENSP00000375095:E173K	ENSP00000375095:E173K	E	-	1	0	TAS2R13	10952648	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.217000	0.00553	-1.010000	0.03396	-2.445000	0.00210	GAA	TAS2R13	-	pfam_TAS2_rcpt		0.348	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	C			11061381	-1	no_errors	ENST00000390677	ensembl	human	known	70_37	missense	SNP	0.000	T	T	11061381	C	T	11061381	3	4	13	1	0	0	0	0	1	0	0	0	15597	835	29	1	398	1	TAS2R13	12	11061381	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	597184	11061381	122790514	520	1964										
TAS2R30	259293	genome.wustl.edu	37	chr12	11286061	11286061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ataatagcttggcagaacatGaagacaggttgcttttccag	10	7	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11286061G>A	ENST00000539585.1	-	1	1182	c.783C>T	c.(781-783)ttC>ttT	p.F261F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	261					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GGCAGAACATGAAGACAGGTT	0.393																																																	0													138	147	144					12																	11286061		2194	4297	6491	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.783C>T	12.37:g.11286061G>A			Q645X7	Silent	SNP	pfam_TAS2_rcpt	p.F261	ENST00000539585.1	37	c.783	CCDS53750.1	12																																																																																			TAS2R30	-	pfam_TAS2_rcpt		0.393	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	G	NM_001097643		11286061	-1	no_errors	ENST00000539585	ensembl	human	known	70_37	silent	SNP	0.000	A	A	11286061	G	A	11286061	2	1	13	1	0	0	0	0	0	0	0	1	15603	1281	45	1		1	TAS2R30	12	11286061	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	224680	11286061	122565834	521	1965			2	7		3	3	443	G		7.722121e-05
TAS2R30	259293	genome.wustl.edu	37	chr12	11286276	11286276	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagaaaagatatcagggtcaGagtgaggggtacaaagtttg	14	4	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11286276G>A	ENST00000539585.1	-	1	967	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	190					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATCAGGGTCAGAGTGAGGGGT	0.418																																																	0													189	200	196					12																	11286276		2203	4300	6503	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.568C>T	12.37:g.11286276G>A			Q645X7	Silent	SNP	pfam_TAS2_rcpt	p.L190	ENST00000539585.1	37	c.568	CCDS53750.1	12																																																																																			TAS2R30	-	pfam_TAS2_rcpt		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	G	NM_001097643		11286276	-1	no_errors	ENST00000539585	ensembl	human	known	70_37	silent	SNP	0.000	A	A	11286276	G	A	11286276	2	1	13	1	0	0	0	0	0	0	0	1	15603	933	33	1		1	TAS2R30	12	11286276	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	215	11286276	122565619	522	1966			2	7		3	3	443	G		7.722121e-05
TAS2R30	259293	genome.wustl.edu	37	chr12	11286503	11286503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgcgaagaaaaataaggttgGagaaattggcaatcctgagc	12	5	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11286503G>A	ENST00000539585.1	-	1	740	c.341C>T	c.(340-342)tCc>tTc	p.S114F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	114					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATAAGGTTGGAGAAATTGGC	0.398																																																	0													109	113	111					12																	11286503		2038	4219	6257	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.341C>T	12.37:g.11286503G>A	ENSP00000444736:p.Ser114Phe		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S114F	ENST00000539585.1	37	c.341	CCDS53750.1	12	.	.	.	.	.	.	.	.	.	.	-	11.98	1.800230	0.31869	.	.	ENSG00000256188	ENST00000539585	T	0.35789	1.29	2.7	0.647	0.17796	.	.	.	.	.	T	0.59307	0.2184	M	0.90019	3.08	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45991	-0.9223	9	0.56958	D	0.05	.	3.7144	0.08433	0.1587:0.259:0.5823:0.0	.	114	P59541	T2R30_HUMAN	F	114	ENSP00000444736:S114F	ENSP00000444736:S114F	S	-	2	0	TAS2R30	11177770	0.962000	0.33011	0.016000	0.15963	0.031000	0.12232	1.344000	0.33941	0.021000	0.15133	0.313000	0.20887	TCC	TAS2R30	-	pfam_TAS2_rcpt		0.398	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	G	NM_001097643		11286503	-1	no_errors	ENST00000539585	ensembl	human	known	70_37	missense	SNP	0.065	A	A	11286503	G	A	11286503	3	1	13	1	0	0	0	0	1	0	0	0	15603	1174	41	1	622	1	TAS2R30	12	11286503	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	227	11286503	122565392	523	1967			2	7		3	3	443	G		7.722121e-05
ATF7IP	55729	genome.wustl.edu	37	chr12	14578098	14578098	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttaatgaaaatgttattgaaGataacaaaagtgagaatatc	7	2	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:14578098G>C	ENST00000540793.1	+	1	1404	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	ATF7IP_ENST00000544627.1_Missense_Mutation_p.D425H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D417H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D417H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D417H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	417	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGTTATTGAAGATAACAAAAG	0.333																																																	0													55	57	56					12																	14578098		2203	4299	6502	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1249G>C	12.37:g.14578098G>C	ENSP00000444589:p.Asp417His		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D417H	ENST00000540793.1	37	c.1249	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212279	0.22289	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.29397	1.95;1.94;1.95;1.95;1.57;1.95	4.83	0.908	0.19326	.	0.844758	0.10376	N	0.682211	T	0.42063	0.1186	L	0.40543	1.245	0.09310	N	1	D;D;P;P;P;P;P	0.63880	0.993;0.971;0.899;0.899;0.899;0.828;0.828	D;P;P;P;P;P;P	0.64776	0.929;0.661;0.661;0.661;0.661;0.464;0.464	T	0.32348	-0.9910	10	0.87932	D	0	-0.4818	9.7059	0.40216	0.276:0.0:0.724:0.0	.	425;417;425;417;417;417;28	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	H	417;417;417;425;417;417	ENSP00000261168:D417H;ENSP00000443179:D417H;ENSP00000445955:D417H;ENSP00000440440:D425H;ENSP00000379575:D417H;ENSP00000444589:D417H	ENSP00000261168:D417H	D	+	1	0	ATF7IP	14469365	0.997000	0.39634	0.000000	0.03702	0.049000	0.14656	3.128000	0.50492	0.055000	0.16094	0.591000	0.81541	GAT	ATF7IP	-	NULL		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	G	NM_018179		14578098	1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	0.040	C	C	14578098	G	C	14578098	3	2	13	1	0	0	0	0	1	0	0	0	1088	942	33	1	1251	1	ATF7IP	12	14578098	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3291595	14578098	119273797	524	1968										
RERGL	79785	genome.wustl.edu	37	chr12	18238577	18238577	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agaacaagggtcatatatttCtagatttagttgtttccttt	7	5	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:18238577C>G	ENST00000229002.2	-	4	369	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	RERGL_ENST00000536890.1_Missense_Mutation_p.E54Q|RERGL_ENST00000538724.1_Missense_Mutation_p.E54Q|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	55	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCATATATTTCTAGATTTAGT	0.274																																																	0													112	114	113					12																	18238577		2202	4296	6498	SO:0001583	missense	79785			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.163G>C	12.37:g.18238577C>G	ENSP00000229002:p.Glu55Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.E55Q	ENST00000229002.2	37	c.163	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429567	0.62844	.	.	ENSG00000111404	ENST00000229002;ENST00000538724;ENST00000536890	T;T;T	0.76578	-1.03;-1.03;-1.03	4.1	4.1	0.47936	.	0.113007	0.64402	D	0.000015	T	0.81659	0.4869	L	0.28776	0.89	0.50813	D	0.999894	P;D	0.89917	0.83;1.0	P;D	0.87578	0.756;0.998	D	0.83937	0.0309	10	0.72032	D	0.01	.	15.7719	0.78176	0.0:1.0:0.0:0.0	.	54;55	F5H686;Q9H628	.;RERGL_HUMAN	Q	55;54;54	ENSP00000229002:E55Q;ENSP00000437814:E54Q;ENSP00000437490:E54Q	ENSP00000229002:E55Q	E	-	1	0	RERGL	18129844	1.000000	0.71417	0.994000	0.49952	0.487000	0.33371	5.873000	0.69644	2.561000	0.86390	0.557000	0.71058	GAA	RERGL	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.274	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	HGNC	protein_coding	OTTHUMT00000401198.1	C	NM_024730		18238577	-1	no_errors	ENST00000229002	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18238577	C	G	18238577	3	3	13	1	0	0	0	0	1	0	0	0	13263	922	32	1	466	1	RERGL	12	18238577	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3660479	18238577	115613318	525	1969										
ST8SIA1	6489	genome.wustl.edu	37	chr12	22354821	22354821	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttggcaaacagcactgtttGattggcaccaacatctgaca	9	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:22354821G>A	ENST00000396037.4	-	5	1217	c.736C>T	c.(736-738)Caa>Taa	p.Q246*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.Q103*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	246					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AGCACTGTTTGATTGGCACCA	0.438																																																	0													83	80	81					12																	22354821		2203	4300	6503	SO:0001587	stop_gained	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.736C>T	12.37:g.22354821G>A	ENSP00000379353:p.Gln246*		A8K4H6|Q17RL0|Q6PZN5|Q93064	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q246*	ENST00000396037.4	37	c.736	CCDS8697.1	12	.	.	.	.	.	.	.	.	.	.	G	40	7.912481	0.98557	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	.	.	.	5.73	5.73	0.89815	.	0.055917	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.8265	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	X	246;103	.	ENSP00000379353:Q246X	Q	-	1	0	ST8SIA1	22246088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.782000	0.99034	2.861000	0.98227	0.655000	0.94253	CAA	ST8SIA1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.438	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA1	HGNC	protein_coding	OTTHUMT00000402245.2	G	NM_003034		22354821	-1	no_errors	ENST00000396037	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	22354821	G	A	22354821	4	1	13	1	0	0	0	0	0	1	0	0	15261	1299	45	1	338	1	ST8SIA1	12	22354821	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4116244	22354821	111497074	526	1970										
C12orf77	196415	genome.wustl.edu	37	chr12	25149195	25149195	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtctagtggatccagaatttGaatattatttctggctctgc	9	7	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:25149195G>C	ENST00000549828.1	-	2	286	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	28										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TCCAGAATTTGAATATTATTT	0.443																																																	0													142	136	138					12																	25149195		1908	4134	6042	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.82C>G	12.37:g.25149195G>C	ENSP00000447146:p.Gln28Glu			Missense_Mutation	SNP	NULL	p.Q28E	ENST00000549828.1	37	c.82	CCDS44846.1	12	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312012	0.23821	.	.	ENSG00000226397	ENST00000549828	T	0.51574	0.7	4.46	3.55	0.40652	.	.	.	.	.	T	0.35158	0.0922	N	0.08118	0	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.34104	-0.9842	9	0.87932	D	0	.	10.1774	0.42946	0.0:0.0:0.7854:0.2146	.	28	C9JDV5	CL097_HUMAN	E	28	ENSP00000447146:Q28E	ENSP00000447146:Q28E	Q	-	1	0	C12orf77	25040462	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.074000	0.41529	1.137000	0.42214	0.655000	0.94253	CAA	C12orf77	-	NULL		0.443	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf77	HGNC	protein_coding	OTTHUMT00000407827.1	G	NM_001101339		25149195	-1	no_errors	ENST00000549828	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25149195	G	C	25149195	3	2	13	1	0	0	0	0	1	0	0	0	1720	1299	45	1	367	1	C12orf77	12	25149195	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2794374	25149195	108702700	527	1971										
CAPRIN2	65981	genome.wustl.edu	37	chr12	30881672	30881672	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccccaggactttggagaaatCtgtgactgtgatgttaaaga	11	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:30881672C>T	ENST00000395805.2	-	8	2239	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Silent_p.Q564Q|CAPRIN2_ENST00000417045.1_Silent_p.Q564Q|CAPRIN2_ENST00000251071.5_Silent_p.Q564Q|CAPRIN2_ENST00000308433.5_Silent_p.Q231Q	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGGAGAAATCTGTGACTGTG	0.448																																																	0													187	175	179					12																	30881672		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1692G>A	12.37:g.30881672C>T				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.Q564	ENST00000395805.2	37	c.1692	CCDS55816.1	12																																																																																			CAPRIN2	-	NULL		0.448	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	C	NM_023925		30881672	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.594	T	T	30881672	C	T	30881672	2	4	13	1	0	0	0	0	0	0	0	1	2641	912	32	1		1	CAPRIN2	12	30881672	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5732477	30881672	102970223	528	1972										
PKP2	5318	genome.wustl.edu	37	chr12	32996150	32996150	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggtctcgaactcctgacctCgtgatccgcccgccttggcc	10	17	1	2	rs140301552		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:32996150C>A	ENST00000070846.6	-	6	1500	c.1476G>T	c.(1474-1476)acG>acT	p.T492T	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	492					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctcctgacctcgtgatccgcc	0.547																																																	0													24	24	24					12																	32996150		2200	4294	6494	SO:0001819	synonymous_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1476G>T	12.37:g.32996150C>A			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T492	ENST00000070846.6	37	c.1476	CCDS8731.1	12																																																																																			PKP2	-	superfamily_ARM-type_fold		0.547	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	C	NM_004572		32996150	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	silent	SNP	0.001	A	A	32996150	C	A	32996150	2	1	13	1	0	0	0	0	0	0	0	1	12009	871	31	3		3	PKP2	12	32996150	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2114478	32996150	100855745	529	1973										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43944892	43944892	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatgcatcggcggtcaggttCagctggaagagctgcccgta	15	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:43944892C>T	ENST00000389420.3	-	2	272	c.273G>A	c.(271-273)ctG>ctA	p.L91L	ADAMTS20_ENST00000553158.1_Silent_p.L91L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	91					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGTCAGGTTCAGCTGGAAGA	0.672																																																	0													60	62	61					12																	43944892		2203	4300	6503	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.273G>A	12.37:g.43944892C>T			A6NNC9|J3QT00	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L91	ENST00000389420.3	37	c.273	CCDS31778.2	12																																																																																			ADAMTS20	-	pfam_Peptidase_M12B_N		0.672	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43944892	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43944892	C	T	43944892	2	4	13	1	0	0	0	0	0	0	0	1	266	813	29	1		1	ADAMTS20	12	43944892	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	10948742	43944892	89907003	530	1974										
H1FNT	341567	genome.wustl.edu	37	chr12	48723250	48723250	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgctcaagctccgtgctcaGagtgtcccagttggtgctcc	11	14	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:48723250G>C	ENST00000335017.1	+	1	488	c.176G>C	c.(175-177)aGa>aCa	p.R59T		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	59					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TCCGTGCTCAGAGTGTCCCAG	0.622																																																	0													48	51	50					12																	48723250		2203	4300	6503	SO:0001583	missense	341567			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.176G>C	12.37:g.48723250G>C	ENSP00000334805:p.Arg59Thr		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	NULL	p.R59T	ENST00000335017.1	37	c.176	CCDS8762.1	12	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947079	0.34377	.	.	ENSG00000187166	ENST00000335017	T	0.20332	2.08	5.39	-8.12	0.01078	.	.	.	.	.	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.18871	0.023	T	0.39981	-0.9587	9	0.72032	D	0.01	-1.5534	14.5851	0.68317	0.1673:0.1189:0.7138:0.0	.	59	Q75WM6	H1FNT_HUMAN	T	59	ENSP00000334805:R59T	ENSP00000334805:R59T	R	+	2	0	H1FNT	47009517	0.702000	0.27816	0.009000	0.14445	0.001000	0.01503	0.179000	0.16840	-1.031000	0.03308	-2.084000	0.00378	AGA	H1FNT	-	NULL		0.622	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FNT	HGNC	protein_coding	OTTHUMT00000406516.1	G	NM_181788		48723250	1	no_errors	ENST00000335017	ensembl	human	known	70_37	missense	SNP	0.039	C	C	48723250	G	C	48723250	3	2	13	1	0	0	0	0	1	0	0	0	6941	942	33	1	178	1	H1FNT	12	48723250	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4778358	48723250	85128645	531	1975										
CACNB3	784	genome.wustl.edu	37	chr12	49217216	49217216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtgcccggcgtgaagtagaGagccaggctcagcagcagct	15	11	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49217216G>C	ENST00000301050.2	+	2	334	c.135G>C	c.(133-135)gaG>gaC	p.E45D	CACNB3_ENST00000536187.2_Missense_Mutation_p.E44D|CACNB3_ENST00000547392.1_Missense_Mutation_p.E45D|CACNB3_ENST00000540990.1_Missense_Mutation_p.E32D|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000547230.1_Missense_Mutation_p.E45D	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	45					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAGTAGAGAGCCAGGCTC	0.612																																																	0													46	39	42					12																	49217216		2203	4300	6503	SO:0001583	missense	784				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.135G>C	12.37:g.49217216G>C	ENSP00000301050:p.Glu45Asp		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.E45D	ENST00000301050.2	37	c.135	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013206	0.54468	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000547230	D;D;D;D;D;T	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-0.21	4.68	4.68	0.58851	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.67145	0.99;0.996;0.993;0.992	D;D;D;D	0.77557	0.979;0.987;0.99;0.987	D	0.89767	0.3951	10	0.52906	T	0.07	-21.2795	16.5134	0.84293	0.0:0.0:1.0:0.0	.	44;32;32;45	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	D	32;44;45;45;45;45	ENSP00000445495:E32D;ENSP00000444160:E44D;ENSP00000446529:E45D;ENSP00000301050:E45D;ENSP00000449497:E45D;ENSP00000448304:E45D	ENSP00000301050:E45D	E	+	3	2	CACNB3	47503483	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.370000	0.59517	2.443000	0.82685	0.313000	0.20887	GAG	CACNB3	-	pfam_VDCC_L_bsu,superfamily_SH3_domain,prints_VDCC_L_b3su		0.612	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	G			49217216	1	no_errors	ENST00000301050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49217216	G	C	49217216	3	2	13	1	0	0	0	0	1	0	0	0	2559	933	33	1	141	1	CACNB3	12	49217216	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	493966	49217216	84634679	532	1976										
MLL2	8085	genome.wustl.edu	37	chr12	49416091	49416091	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccgccggtcaacgtagcatCaatcacatgttcattgttta	8	11	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49416091C>G	ENST00000301067.7	-	52	16383	c.16384G>C	c.(16384-16386)Gat>Cat	p.D5462H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5462	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AACGTAGCATCAATCACATGT	0.512																																																	0													70	69	69					12																	49416091		2102	4215	6317	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16384G>C	12.37:g.49416091C>G	ENSP00000301067:p.Asp5462His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D5462H	ENST00000301067.7	37	c.16384	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134753	0.56828	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	SET domain (3);	0.000000	0.37136	N	0.002236	D	0.95878	0.8658	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97730	1.0202	10	0.87932	D	0	.	17.7533	0.88441	0.0:1.0:0.0:0.0	.	5462	O14686	MLL2_HUMAN	H	5462;143	ENSP00000301067:D5462H;ENSP00000435714:D143H	ENSP00000301067:D5462H	D	-	1	0	MLL2	47702358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.565000	0.86533	0.650000	0.86243	GAT	MLL2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49416091	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49416091	C	G	49416091	3	3	13	1	0	0	0	0	1	0	0	0	9644	826	29	1	241	1	MLL2	12	49416091	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	198875	49416091	84435804	533	1977										
MLL2	8085	genome.wustl.edu	37	chr12	49426526	49426526	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgctgctgctgttgttgctGaggagacagtaaagttcgac	13	7	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49426526G>A	ENST00000301067.7	-	39	11961	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3988	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3718*(1)									TGTTGTTGCTGAGGAGACAGT	0.532																																																	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											64	70	68					12																	49426526		2196	4296	6492	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11962C>T	12.37:g.49426526G>A	ENSP00000301067:p.Gln3988*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3988*	ENST00000301067.7	37	c.11962	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	50	17.079656	0.99878	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.88	4.88	0.63580	.	0.000000	0.34652	N	0.003786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6695	0.88212	0.0:0.0:1.0:0.0	.	.	.	.	X	3988	.	ENSP00000301067:Q3988X	Q	-	1	0	MLL2	47712793	0.997000	0.39634	1.000000	0.80357	0.099000	0.18886	3.213000	0.51153	2.643000	0.89663	0.655000	0.94253	CAG	MLL2	-	NULL		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49426526	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49426526	G	A	49426526	4	1	13	1	0	0	0	0	0	1	0	0	9644	1299	45	1	4715	1	MLL2	12	49426526	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10435	49426526	84425369	534	1978										
KCNH3	23416	genome.wustl.edu	37	chr12	49948277	49948277	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccgagtttgccccgcgcttCagtcgtggcctccgagggga	14	15	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49948277C>T	ENST00000257981.6	+	11	2336	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	692					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCCGCGCTTCAGTCGTGGCC	0.647																																																	0													56	55	55					12																	49948277		2203	4300	6503	SO:0001819	synonymous_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2076C>T	12.37:g.49948277C>T			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.F692	ENST00000257981.6	37	c.2076	CCDS8786.1	12																																																																																			KCNH3	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.647	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	C	NM_012284		49948277	1	no_errors	ENST00000257981	ensembl	human	known	70_37	silent	SNP	0.991	T	T	49948277	C	T	49948277	2	4	13	1	0	0	0	0	0	0	0	1	8053	825	29	1		1	KCNH3	12	49948277	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	521751	49948277	83903618	535	1979										
BIN2	51411	genome.wustl.edu	37	chr12	51686077	51686077	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtgaggtaagaggactggaGactgtagctgttcgaactgg	17	5	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:51686077G>A	ENST00000267012.4	-	10	874	c.813C>T	c.(811-813)gtC>gtT	p.V271V	BIN2_ENST00000544402.1_Silent_p.V245V|BIN2_ENST00000452142.2_Silent_p.V239V|BIN2_ENST00000604560.1_Silent_p.V244V	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	271					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GAGGACTGGAGACTGTAGCTG	0.483																																																	0													55	58	57					12																	51686077		2203	4292	6495	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.813C>T	12.37:g.51686077G>A			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.V271	ENST00000267012.4	37	c.813	CCDS8811.1	12																																																																																			BIN2	-	NULL		0.483	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	G			51686077	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	silent	SNP	0.001	A	A	51686077	G	A	51686077	2	1	13	1	0	0	0	0	0	0	0	1	1434	929	33	1		1	BIN2	12	51686077	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1737800	51686077	82165818	536	1980										
KRT71	112802	genome.wustl.edu	37	chr12	52943902	52943902	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacagcgtctccagctgcttCcgcaggttgctgatgtagcc	12	13	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:52943902C>T	ENST00000267119.5	-	2	636	c.567G>A	c.(565-567)cgG>cgA	p.R189R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	189	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCAGCTGCTTCCGCAGGTTGC	0.592																																																	0													194	176	182					12																	52943902		2203	4300	6503	SO:0001819	synonymous_variant	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.567G>A	12.37:g.52943902C>T			B3KVC1|Q3SY85|Q96DU2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R189	ENST00000267119.5	37	c.567	CCDS8831.1	12																																																																																			KRT71	-	pfam_F		0.592	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52943902	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	silent	SNP	0.992	T	T	52943902	C	T	52943902	2	4	13	1	0	0	0	0	0	0	0	1	8504	842	30	1		1	KRT71	12	52943902	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1257825	52943902	80907993	537	1981										
KRT76	51350	genome.wustl.edu	37	chr12	53170902	53170902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgttgctgcccaggttgtaGaggctgcgactgccaaagct	13	10	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:53170902G>A	ENST00000332411.2	-	1	227	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	58	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGGTTGTAGAGGCTGCGAC	0.667																																																	0													91	114	106					12																	53170902		2203	4300	6503	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.174C>T	12.37:g.53170902G>A			B4DRR3|Q7Z795	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L58	ENST00000332411.2	37	c.174	CCDS8838.1	12																																																																																			KRT76	-	NULL		0.667	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	G	NM_015848		53170902	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53170902	G	A	53170902	2	1	13	1	0	0	0	0	0	0	0	1	8509	929	33	1		1	KRT76	12	53170902	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	227000	53170902	80680993	538	1982										
SP1	6667	genome.wustl.edu	37	chr12	53803323	53803323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acacgttcggatgagctacaGaggcacaaacgtacacacac	9	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:53803323G>C	ENST00000327443.4	+	5	2120	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	SP1_ENST00000426431.2_Missense_Mutation_p.Q667H	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	674	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATGAGCTACAGAGGCACAAAC	0.453																																																	0													89	85	86					12																	53803323		2203	4300	6503	SO:0001583	missense	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2022G>C	12.37:g.53803323G>C	ENSP00000329357:p.Gln674His		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q674H	ENST00000327443.4	37	c.2022	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204022	0.79127	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.35973	1.28;1.28	5.1	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000066	T	0.46386	0.1390	L	0.33293	1	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.43940	-0.9360	10	0.87932	D	0	.	11.0668	0.47980	0.1534:0.0:0.8466:0.0	.	674	P08047	SP1_HUMAN	H	674;667	ENSP00000329357:Q674H;ENSP00000404263:Q667H	ENSP00000329357:Q674H	Q	+	3	2	SP1	52089590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.962000	0.56766	0.861000	0.35504	0.650000	0.86243	CAG	SP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	G			53803323	1	no_errors	ENST00000327443	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53803323	G	C	53803323	3	2	13	1	0	0	0	0	1	0	0	0	14989	933	33	1	2040	1	SP1	12	53803323	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	632421	53803323	80048572	539	1983										
HOXC12	3228	genome.wustl.edu	37	chr12	54350313	54350313	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccggagaatgaaaaagaaaaGacttctgttgagggagcaag	13	5	1	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:54350313G>C	ENST00000243103.3	+	2	908	c.812G>C	c.(811-813)aGa>aCa	p.R271T	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	271					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R271T(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AAAAAGAAAAGACTTCTGTTG	0.542																																																	1	Substitution - Missense(1)	lung(1)											86	94	91					12																	54350313		2203	4300	6503	SO:0001583	missense	3228			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.812G>C	12.37:g.54350313G>C	ENSP00000243103:p.Arg271Thr		Q9BXJ6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R271T	ENST00000243103.3	37	c.812	CCDS8866.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995955	0.74703	.	.	ENSG00000123407	ENST00000243103	D	0.96522	-4.04	4.2	4.2	0.49525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000001	D	0.98520	0.9506	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99771	1.1024	10	0.87932	D	0	.	15.6972	0.77509	0.0:0.0:1.0:0.0	.	271	P31275	HXC12_HUMAN	T	271	ENSP00000243103:R271T	ENSP00000243103:R271T	R	+	2	0	HOXC12	52636580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.430000	0.97488	2.052000	0.61016	0.462000	0.41574	AGA	HOXC12	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.542	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2	G	NM_173860		54350313	1	no_errors	ENST00000243103	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54350313	G	C	54350313	3	2	13	1	0	0	0	0	1	0	0	0	7331	942	33	1	818	1	HOXC12	12	54350313	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	546990	54350313	79501582	540	1984										
OR6C68	403284	genome.wustl.edu	37	chr12	55886453	55886453	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtataatgcatgtgtcattCagctattttttgcagacctc	7	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:55886453C>T	ENST00000548615.1	+	1	292	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Nonsense_Mutation_p.Q103*|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATGTGTCATTCAGCTATTTTT	0.358																																																	0													162	154	157					12																	55886453		2203	4300	6503	SO:0001587	stop_gained	403284				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.292C>T	12.37:g.55886453C>T	ENSP00000448811:p.Gln98*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q103*	ENST00000548615.1	37	c.307	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841725	0.71488	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	.	.	.	4.77	4.77	0.60923	.	0.000000	0.48286	D	0.000190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9913	0.89170	0.0:1.0:0.0:0.0	.	.	.	.	X	103;98	.	ENSP00000368983:Q103X	Q	+	1	0	OR6C68	54172720	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	6.820000	0.75267	2.648000	0.89879	0.603000	0.83216	CAG	OR6C68	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.358	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	C			55886453	1	no_errors	ENST00000379662	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	55886453	C	T	55886453	4	4	13	1	0	0	0	0	0	1	0	0	11220	827	29	1	309	1	OR6C68	12	55886453	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1536140	55886453	77965442	541	1985										
TIMELESS	8914	genome.wustl.edu	37	chr12	56827324	56827324	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccaaaggaaatcctcacctCtttgtaggcctgcaaataag	7	11	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:56827324C>G	ENST00000553532.1	-	4	514	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E122Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E122Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCCTCACCTCTTTGTAGGCC	0.493																																																	0													105	111	109					12																	56827324		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.364G>C	12.37:g.56827324C>G	ENSP00000450607:p.Glu122Gln			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E122Q	ENST00000553532.1	37	c.364	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693510	0.68386	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.67523	-0.27;-0.27;0.78	5.42	5.42	0.78866	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.42632	1.34	0.51233	D	0.999916	D;D	0.63880	0.991;0.993	P;D	0.63381	0.861;0.914	T	0.69206	-0.5206	10	0.26408	T	0.33	-23.9945	18.3784	0.90442	0.0:1.0:0.0:0.0	.	122;122	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	122	ENSP00000229201:E122Q;ENSP00000450607:E122Q;ENSP00000450848:E122Q	ENSP00000229201:E122Q	E	-	1	0	TIMELESS	55113591	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.873000	0.56093	2.712000	0.92718	0.650000	0.86243	GAG	TIMELESS	-	pfam_Timeless		0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56827324	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56827324	C	G	56827324	3	3	13	1	0	0	0	0	1	0	0	0	15934	922	32	1	3366	1	TIMELESS	12	56827324	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	940871	56827324	77024571	542	1986										
TIMELESS	8914	genome.wustl.edu	37	chr12	56827699	56827699	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcaaatagcggatcagatCcttcacgctctcttcagaga	7	13	5	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:56827699C>G	ENST00000553532.1	-	3	259	c.109G>C	c.(109-111)Gat>Cat	p.D37H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.D37H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.D37H					timeless circadian clock									p.D37Y(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGGATCAGATCCTTCACGCTC	0.522																																																	1	Substitution - Missense(1)	lung(1)											107	106	107					12																	56827699		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.109G>C	12.37:g.56827699C>G	ENSP00000450607:p.Asp37His			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.D37H	ENST00000553532.1	37	c.109	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080027	0.76528	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.51574	0.7;0.7;0.7	5.44	5.44	0.79542	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.68443	-0.5407	10	0.87932	D	0	-19.4834	18.4236	0.90600	0.0:1.0:0.0:0.0	.	37;37	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	H	37	ENSP00000229201:D37H;ENSP00000450607:D37H;ENSP00000450848:D37H	ENSP00000229201:D37H	D	-	1	0	TIMELESS	55113966	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.598000	0.82745	2.735000	0.93741	0.555000	0.69702	GAT	TIMELESS	-	pfam_Timeless		0.522	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56827699	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56827699	C	G	56827699	3	3	13	1	0	0	0	0	1	0	0	0	15934	855	30	1	3625	1	TIMELESS	12	56827699	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	375	56827699	77024196	543	1987										
MARS	4141	genome.wustl.edu	37	chr12	57906126	57906126	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tataccttggtcagccacctCattgctacaggtaagtaccc	7	13	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:57906126C>T	ENST00000262027.5	+	14	1877	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Silent_p.L347L|RNU6-594P_ENST00000517056.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	581					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCAGCCACCTCATTGCTACAG	0.463																																																	0													130	123	125					12																	57906126		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1743C>T	12.37:g.57906126C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.L581	ENST00000262027.5	37	c.1743	CCDS8942.1	12																																																																																			MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth		0.463	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57906126	1	no_errors	ENST00000262027	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57906126	C	T	57906126	2	4	13	1	0	0	0	0	0	0	0	1	9339	813	29	1		1	MARS	12	57906126	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1078427	57906126	75945769	544	1988										
IRAK3	11213	genome.wustl.edu	37	chr12	66638416	66638416	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacatgccagaagagtacatCagacaggggaaactttccat	9	9	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:66638416C>T	ENST00000261233.4	+	9	1459	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	IRAK3_ENST00000457197.2_Silent_p.I285I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AAGAGTACATCAGACAGGGGA	0.433																																																	0													122	110	114					12																	66638416		2203	4300	6503	SO:0001819	synonymous_variant	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1038C>T	12.37:g.66638416C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.I346	ENST00000261233.4	37	c.1038	CCDS8975.1	12																																																																																			IRAK3	-	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		0.433	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	C			66638416	1	no_errors	ENST00000261233	ensembl	human	known	70_37	silent	SNP	0.997	T	T	66638416	C	T	66638416	2	4	13	1	0	0	0	0	0	0	0	1	7844	816	29	1		1	IRAK3	12	66638416	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8732290	66638416	67213479	545	1989										
TBC1D15	64786	genome.wustl.edu	37	chr12	72266761	72266761	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggatgatgcattagattcctCtagtattctctatgctagaa	8	7	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:72266761C>G	ENST00000550746.1	+	3	246	c.182C>G	c.(181-183)tCt>tGt	p.S61C	TBC1D15_ENST00000319106.8_Missense_Mutation_p.S69C|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S61C	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	61					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTAGATTCCTCTAGTATTCTC	0.299																																																	0													119	129	126					12																	72266761		2203	4299	6502	SO:0001583	missense	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.182C>G	12.37:g.72266761C>G	ENSP00000448182:p.Ser61Cys		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S61C	ENST00000550746.1	37	c.182	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338074	0.81911	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.36340	1.26;1.26;1.26	5.47	5.47	0.80525	Domain of unknown function DUF3548 (1);	0.066382	0.64402	D	0.000006	T	0.59473	0.2196	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.974;0.998	T	0.61068	-0.7137	10	0.87932	D	0	-12.8951	19.3389	0.94334	0.0:1.0:0.0:0.0	.	69;61;61	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	C	61;69;61	ENSP00000448182:S61C;ENSP00000318262:S69C;ENSP00000420678:S61C	ENSP00000318262:S69C	S	+	2	0	TBC1D15	70553028	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.498000	0.60373	2.575000	0.86900	0.655000	0.94253	TCT	TBC1D15	-	pfam_DUF3548		0.299	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	C	NM_022771		72266761	1	no_errors	ENST00000550746	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72266761	C	G	72266761	3	3	13	1	0	0	0	0	1	0	0	0	15634	913	32	1	316	1	TBC1D15	12	72266761	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5628345	72266761	61585134	546	1990										
NAV3	89795	genome.wustl.edu	37	chr12	78444742	78444742	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcatccacacagacccctcGaggttcatgtataccacgcc	6	16	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:78444742G>T	ENST00000397909.2	+	11	2504	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	NAV3_ENST00000266692.7_Silent_p.S777S|NAV3_ENST00000228327.6_Silent_p.S777S|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Silent_p.S777S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	777						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGACCCCTCGAGGTTCATGT	0.572										HNSCC(70;0.22)																																							0													66	66	66					12																	78444742		2074	4205	6279	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2331G>T	12.37:g.78444742G>T			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S777	ENST00000397909.2	37	c.2331		12																																																																																			NAV3	-	NULL		0.572	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444742	1	no_errors	ENST00000397909	ensembl	human	known	70_37	silent	SNP	0.004	T	T	78444742	G	T	78444742	2	4	13	1	0	0	0	0	0	0	0	1	10208	1045	37	3		3	NAV3	12	78444742	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6177981	78444742	55407153	547	1991										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80187678	80187678	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attggatccctcttctgtgtCtgattgttgttcttgttcat	8	8	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:80187678C>G	ENST00000450142.2	-	19	2880	c.2614G>C	c.(2614-2616)Gac>Cac	p.D872H	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D872H|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D816H|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.D785H|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D872H	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	872					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTTCTGTGTCTGATTGTTGT	0.234																																																	0													111	103	106					12																	80187678		1793	4061	5854	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2614G>C	12.37:g.80187678C>G	ENSP00000389168:p.Asp872His		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D872H	ENST00000450142.2	37	c.2614	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.298500|4.298500	0.81025|0.81025	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107|ENST00000550299	T;T;T;T;T|.	0.39997|.	1.07;1.07;1.05;1.1;1.05|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.044088|.	0.85682|.	D|.	0.000000|.	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.998;0.998;0.995|.	T|T	0.71122|0.71122	-0.4684|-0.4684	10|5	0.54805|.	T|.	0.06|.	.|.	19.8252|19.8252	0.96614|0.96614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	872;816;872|.	O14974-2;O14974-3;O14974|.	.;.;MYPT1_HUMAN|.	H|H	872;872;872;816;813;872;872;785;816|54	ENSP00000261207:D872H;ENSP00000389168:D872H;ENSP00000416769:D872H;ENSP00000449514:D785H;ENSP00000446855:D816H|.	ENSP00000261207:D872H|.	D|Q	-|-	1|3	0|2	PPP1R12A|PPP1R12A	78711809|78711809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	6.746000|6.746000	0.74866|0.74866	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAC|CAG	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.234	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80187678	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80187678	C	G	80187678	3	3	13	1	0	0	0	0	1	0	0	0	12381	913	32	1	506	1	PPP1R12A	12	80187678	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1742936	80187678	53664217	548	1992										
ACSS3	79611	genome.wustl.edu	37	chr12	81568569	81568569	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatgaatctcattgtagggGaagcctgtgggaacaccaga	12	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:81568569G>A	ENST00000548058.1	+	8	2011	c.1101G>A	c.(1099-1101)ggG>ggA	p.G367G	ACSS3_ENST00000261206.3_Silent_p.G366G|ACSS3_ENST00000548324.1_Silent_p.G49G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	367						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATTGTAGGGGAAGCCTGTGG	0.388																																																	0													80	72	75					12																	81568569		2203	4300	6503	SO:0001819	synonymous_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1101G>A	12.37:g.81568569G>A			Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.G367	ENST00000548058.1	37	c.1101	CCDS9022.1	12																																																																																			ACSS3	-	pfam_AMP-dep_Synth/Lig		0.388	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	G	NM_024560		81568569	1	no_errors	ENST00000548058	ensembl	human	known	70_37	silent	SNP	0.999	A	A	81568569	G	A	81568569	2	1	13	1	0	0	0	0	0	0	0	1	190	1161	41	1		1	ACSS3	12	81568569	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1380891	81568569	52283326	549	1993										
CEP290	80184	genome.wustl.edu	37	chr12	88523611	88523611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttctaaattttttctcatttCttgattctgaacttcaattt	2	7	5	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:88523611C>T	ENST00000552810.1	-	10	1055	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CEP290_ENST00000309041.7_Missense_Mutation_p.E238K|CEP290_ENST00000397838.3_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	238					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTCTCATTTCTTGATTCTGA	0.254																																																	0													37	31	33					12																	88523611		1727	3930	5657	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.712G>A	12.37:g.88523611C>T	ENSP00000448012:p.Glu238Lys		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.E238K	ENST00000552810.1	37	c.712	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908726	0.72868	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.57107	0.42;0.42	4.83	4.83	0.62350	.	0.125317	0.56097	D	0.000035	T	0.56396	0.1982	L	0.56769	1.78	0.80722	D	1	P	0.49635	0.926	P	0.46479	0.518	T	0.56129	-0.8030	10	0.30854	T	0.27	.	18.2799	0.90096	0.0:1.0:0.0:0.0	.	238	O15078	CE290_HUMAN	K	238;238;238;140	ENSP00000448012:E238K;ENSP00000308021:E238K	ENSP00000308021:E238K	E	-	1	0	CEP290	87047742	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.362000	0.59467	2.393000	0.81446	0.555000	0.69702	GAA	CEP290	-	NULL		0.254	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	C	NM_025114		88523611	-1	no_errors	ENST00000309041	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88523611	C	T	88523611	3	4	13	1	0	0	0	0	1	0	0	0	3258	922	32	1	6907	1	CEP290	12	88523611	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6955042	88523611	45328284	550	1994										
EEA1	8411	genome.wustl.edu	37	chr12	93213230	93213230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttctgtaataaagcttcaaGgttctggatcttttggtcct	8	8	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:93213230G>A	ENST00000322349.8	-	14	1846	c.1582C>T	c.(1582-1584)Ctt>Ttt	p.L528F		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	528	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAAGCTTCAAGGTTCTGGATC	0.328																																																	0													54	54	54					12																	93213230		2202	4298	6500	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1582C>T	12.37:g.93213230G>A	ENSP00000317955:p.Leu528Phe		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.L528F	ENST00000322349.8	37	c.1582	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637473	0.87760	.	.	ENSG00000102189	ENST00000322349	T	0.52295	0.67	5.55	5.55	0.83447	.	0.000000	0.47455	D	0.000223	T	0.61388	0.2343	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.59123	-0.7513	10	0.44086	T	0.13	.	19.5055	0.95113	0.0:0.0:1.0:0.0	.	528	Q15075	EEA1_HUMAN	F	528	ENSP00000317955:L528F	ENSP00000317955:L528F	L	-	1	0	EEA1	91737361	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.871000	0.87180	2.624000	0.88883	0.460000	0.39030	CTT	EEA1	-	NULL		0.328	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	G	NM_003566		93213230	-1	no_errors	ENST00000322349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93213230	G	A	93213230	3	1	13	1	0	0	0	0	1	0	0	0	4931	1000	35	4	2717	4	EEA1	12	93213230	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4689619	93213230	40638665	551	1995										
VEZT	55591	genome.wustl.edu	37	chr12	95694220	95694220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatgaaccacaagcagatgGaagtggtctgaccactgccc	11	11	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:95694220G>T	ENST00000436874.1	+	12	2216	c.2111G>T	c.(2110-2112)gGa>gTa	p.G704V	VEZT_ENST00000261219.6_Missense_Mutation_p.G656V|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	704					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGCAGATGGAAGTGGTCTG	0.468																																																	0													58	57	57					12																	95694220		1987	4168	6155	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2111G>T	12.37:g.95694220G>T	ENSP00000410083:p.Gly704Val		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.G704V	ENST00000436874.1	37	c.2111	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226275	0.01518	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.14640	2.49;2.49;2.49	5.73	-1.44	0.08856	.	0.634518	0.16816	N	0.198347	T	0.03915	0.0110	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35001	-0.9806	10	0.26408	T	0.33	-14.9949	2.01	0.03485	0.148:0.3073:0.1122:0.4324	.	704	Q9HBM0	VEZA_HUMAN	V	704;656;660;704	ENSP00000410083:G704V;ENSP00000261219:G656V;ENSP00000380894:G660V	ENSP00000261219:G656V	G	+	2	0	VEZT	94218351	0.006000	0.16342	0.000000	0.03702	0.012000	0.07955	0.201000	0.17276	-0.062000	0.13088	0.650000	0.86243	GGA	VEZT	-	NULL		0.468	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95694220	1	no_errors	ENST00000436874	ensembl	human	known	70_37	missense	SNP	0.000	T	T	95694220	G	T	95694220	3	4	13	1	0	0	0	0	1	0	0	0	17187	1174	41	3	2157	3	VEZT	12	95694220	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2480990	95694220	38157675	552	1996										
CDK17	5128	genome.wustl.edu	37	chr12	96688839	96688839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggttctgtggtttcaagtctCgatgcaatacctttcttcta	8	9	5	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:96688839C>T	ENST00000261211.3	-	10	1538	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.R259Q|CDK17_ENST00000543119.2_Missense_Mutation_p.R312Q	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTTCAAGTCTCGATGCAATAC	0.338																																																	0													140	131	134					12																	96688839		2203	4300	6503	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.935G>A	12.37:g.96688839C>T	ENSP00000261211:p.Arg312Gln		A8K1U6|B2RCQ2|Q8NEB8	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.R312Q	ENST00000261211.3	37	c.935	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.068136	0.93950	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64803	-0.12;-0.12;-0.12	5.09	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052553	0.85682	N	0.000000	D	0.86723	0.6001	H	0.97852	4.09	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92012	0.5619	10	0.87932	D	0	-7.2266	15.9119	0.79479	0.0:0.8643:0.1357:0.0	.	312;312	A8K1U6;Q00537	.;CDK17_HUMAN	Q	312;312;259	ENSP00000261211:R312Q;ENSP00000444459:R312Q;ENSP00000442926:R259Q	ENSP00000261211:R312Q	R	-	2	0	CDK17	95212970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.701000	0.84566	1.264000	0.44198	0.491000	0.48974	CGA	CDK17	-	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		0.338	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	C	NM_002595		96688839	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96688839	C	T	96688839	3	4	13	1	0	0	0	0	1	0	0	0	3138	884	31	1	706	1	CDK17	12	96688839	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	994619	96688839	37163056	553	1997										
SLC17A8	246213	genome.wustl.edu	37	chr12	100796201	100796201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atccaacaatatccaatgagGagaagacctatatagagaca	7	8	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:100796201G>A	ENST00000323346.5	+	7	1160	c.847G>A	c.(847-849)Gag>Aag	p.E283K	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E283K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	283					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATCCAATGAGGAGAAGACCTA	0.408																																																	0													92	89	90					12																	100796201		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.847G>A	12.37:g.100796201G>A	ENSP00000316909:p.Glu283Lys		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E283K	ENST00000323346.5	37	c.847	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502969	0.85176	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.62941	-0.01;-0.01	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.93898	3.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.981	D	0.88241	0.2910	10	0.87932	D	0	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	283;283	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	283	ENSP00000316909:E283K;ENSP00000376715:E283K	ENSP00000316909:E283K	E	+	1	0	SLC17A8	99320332	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	9.703000	0.98714	2.788000	0.95919	0.557000	0.71058	GAG	SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.408	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	G	NM_139319		100796201	1	no_errors	ENST00000323346	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100796201	G	A	100796201	3	1	13	1	0	0	0	0	1	0	0	0	14453	1175	41	1	873	1	SLC17A8	12	100796201	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4107362	100796201	33055694	554	1998										
ANO4	121601	genome.wustl.edu	37	chr12	101365090	101365090	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttttctgtttcagtcctctCtaataaatagtgacattatc	4	8	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:101365090C>G	ENST00000392977.3	+	6	673	c.463C>G	c.(463-465)Cta>Gta	p.L155V	ANO4_ENST00000538618.1_Missense_Mutation_p.L321V|ANO4_ENST00000392979.3_Missense_Mutation_p.L120V|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	155					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCAGTCCTCTCTAATAAATAG	0.378										HNSCC(74;0.22)																																							0													126	120	122					12																	101365090		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.463C>G	12.37:g.101365090C>G	ENSP00000376703:p.Leu155Val		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.L155V	ENST00000392977.3	37	c.463		12	.	.	.	.	.	.	.	.	.	.	C	8.059	0.767686	0.15983	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.66815	-0.23;-0.23;-0.23	5.41	1.01	0.19927	.	0.220594	0.28796	N	0.014109	T	0.34395	0.0896	N	0.05441	-0.05	0.80722	D	1	B;B	0.16603	0.009;0.018	B;B	0.20955	0.007;0.032	T	0.27739	-1.0065	10	0.02654	T	1	.	4.9514	0.14015	0.1087:0.3505:0.4172:0.1236	.	155;120	Q32M45;Q32M45-2	ANO4_HUMAN;.	V	321;120;155	ENSP00000443751:L321V;ENSP00000376705:L120V;ENSP00000376703:L155V	ENSP00000376703:L155V	L	+	1	2	ANO4	99889221	0.743000	0.28239	1.000000	0.80357	0.996000	0.88848	-0.023000	0.12456	0.552000	0.29026	0.563000	0.77884	CTA	ANO4	-	NULL		0.378	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	C	NM_178826		101365090	1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	0.924	G	G	101365090	C	G	101365090	3	3	13	1	0	0	0	0	1	0	0	0	699	912	32	1	372	1	ANO4	12	101365090	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	568889	101365090	32486805	555	1999										
CCDC53	51019	genome.wustl.edu	37	chr12	102439876	102439876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtttcaatttgttggatacGaagtgaaaggtctgccagtt	11	5	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:102439876G>A	ENST00000240079.6	-	3	333	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.R58C	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	58						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)		p.R58C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294																																																	1	Substitution - Missense(1)	large_intestine(1)											47	43	44					12																	102439876		1796	4062	5858	SO:0001583	missense	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.172C>T	12.37:g.102439876G>A	ENSP00000240079:p.Arg58Cys		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	pfam_WASH_CCDC53	p.R58C	ENST00000240079.6	37	c.172	CCDS44959.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323109	0.81580	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.87547	2.89	0.80722	D	1	P;D	0.54207	0.836;0.965	B;B	0.43194	0.212;0.411	T	0.76828	-0.2815	9	0.52906	T	0.07	-11.4463	16.3866	0.83507	0.0:0.0:1.0:0.0	.	58;58	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	C	58;58;8	.	ENSP00000240079:R58C	R	-	1	0	CCDC53	100964006	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.063000	0.64332	2.659000	0.90383	0.655000	0.94253	CGT	CCDC53	-	pfam_WASH_CCDC53		0.294	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC53	HGNC	protein_coding	OTTHUMT00000398685.1	G	NM_016053		102439876	-1	no_errors	ENST00000240079	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102439876	G	A	102439876	3	1	13	1	0	0	0	0	1	0	0	0	2828	1058	37	1	363	1	CCDC53	12	102439876	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1074786	102439876	31412019	556	2000										
TRPV4	59341	genome.wustl.edu	37	chr12	110226262	110226262	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggcccactgtctcgcccatGagggcaatgagcatgttgag	13	11	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:110226262G>A	ENST00000418703.2	-	12	2245	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	TRPV4_ENST00000536838.1_Silent_p.L683L|TRPV4_ENST00000541794.1_Silent_p.L670L|TRPV4_ENST00000261740.2_Silent_p.L717L|TRPV4_ENST00000544971.1_Silent_p.L610L|TRPV4_ENST00000346520.2_Silent_p.L657L|TRPV4_ENST00000392719.2_Silent_p.L670L|TRPV4_ENST00000537083.1_Silent_p.L657L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	717					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCTCGCCCATGAGGGCAATGA	0.597																																																	0													106	84	91					12																	110226262		2203	4300	6503	SO:0001819	synonymous_variant	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2151C>T	12.37:g.110226262G>A			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.L717	ENST00000418703.2	37	c.2151	CCDS9134.1	12																																																																																			TRPV4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110226262	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	silent	SNP	1.000	A	A	110226262	G	A	110226262	2	1	13	1	0	0	0	0	0	0	0	1	16629	1277	45	1		1	TRPV4	12	110226262	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7786386	110226262	23625633	557	2001										
NOS1	4842	genome.wustl.edu	37	chr12	117749369	117749369	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttctccacgccgaggggcaGaggtttgtgtgacttgccgt	15	10	1	2	rs375810209		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:117749369G>C	ENST00000338101.4	-	2	758	c.754C>G	c.(754-756)Ctg>Gtg	p.L252V	NOS1_ENST00000344089.3_Missense_Mutation_p.L252V|NOS1_ENST00000317775.6_Missense_Mutation_p.L252V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L252V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCGAGGGGCAGAGGTTTGTGT	0.552																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											75	78	77					12																	117749369		1992	4166	6158	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.754C>G	12.37:g.117749369G>C	ENSP00000337459:p.Leu252Val			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L252V	ENST00000338101.4	37	c.754	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169764	0.57584	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.06687	4.94;3.27;4.96	5.65	4.71	0.59529	.	0.380726	0.25009	N	0.033846	T	0.07728	0.0194	L	0.44542	1.39	0.22933	N	0.998543	B	0.15930	0.015	B	0.18263	0.021	T	0.32824	-0.9892	10	0.12766	T	0.61	-7.2403	11.057	0.47925	0.0:0.0:0.8151:0.1849	.	252	P29475	NOS1_HUMAN	V	252	ENSP00000320758:L252V;ENSP00000339862:L252V;ENSP00000337459:L252V	ENSP00000320758:L252V	L	-	1	2	NOS1	116233752	0.951000	0.32395	0.961000	0.40146	0.840000	0.47671	1.660000	0.37397	2.657000	0.90304	0.561000	0.74099	CTG	NOS1	-	pirsf_NOS_met		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	G			117749369	-1	no_errors	ENST00000317775	ensembl	human	known	70_37	missense	SNP	0.987	C	C	117749369	G	C	117749369	3	2	13	1	0	0	0	0	1	0	0	0	10565	933	33	1	3658	1	NOS1	12	117749369	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7523107	117749369	16102526	558	2002										
KDM2B	84678	genome.wustl.edu	37	chr12	121947753	121947753	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcctcgtccttctcctcctCctcctgaggctgctgatcac	6	19	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:121947753C>G	ENST00000377071.4	-	11	1336	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	KDM2B_ENST00000542973.1_5'Flank|KDM2B_ENST00000377069.4_Missense_Mutation_p.E391Q|KDM2B_ENST00000536437.1_Missense_Mutation_p.E305Q|KDM2B_ENST00000538046.2_Missense_Mutation_p.E332Q	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	422	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ttctcctcctcctcctGAGGC	0.647																																																	0													37	44	41					12																	121947753		2054	4172	6226	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1264G>C	12.37:g.121947753C>G	ENSP00000366271:p.Glu422Gln		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E422Q	ENST00000377071.4	37	c.1264	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703436	0.48412	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030	T;T;T;T;T	0.52057	2.46;1.87;0.89;0.89;0.68	4.96	4.96	0.65561	.	0.553031	0.17127	N	0.185990	T	0.50222	0.1603	L	0.47716	1.5	0.34701	D	0.726732	D;P;P;P	0.57257	0.979;0.675;0.816;0.675	P;B;B;B	0.50082	0.63;0.118;0.382;0.242	T	0.53927	-0.8369	10	0.14656	T	0.56	-25.2328	17.5919	0.87999	0.0:1.0:0.0:0.0	.	422;305;422;391	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	Q	422;391;422;305;422;422;385;124	ENSP00000366269:E391Q;ENSP00000366271:E422Q;ENSP00000445196:E305Q;ENSP00000398279:E385Q;ENSP00000444846:E124Q	ENSP00000261824:E422Q	E	-	1	0	KDM2B	120432136	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.422000	0.73357	2.476000	0.83614	0.655000	0.94253	GAG	KDM2B	-	NULL		0.647	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	C	NM_032590		121947753	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121947753	C	G	121947753	3	3	13	1	0	0	0	0	1	0	0	0	8145	864	30	1	2850	1	KDM2B	12	121947753	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4198384	121947753	11904142	559	2003										
WDR66	144406	genome.wustl.edu	37	chr12	122413586	122413586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttggcttttacccatctgaaGagaaggtagggagaacgaaa	12	6	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:122413586G>A	ENST00000288912.4	+	19	3855	c.3001G>A	c.(3001-3003)Gag>Aag	p.E1001K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1001							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCCATCTGAAGAGAAGGTAGG	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)												0													116	105	108					12																	122413586		1896	4138	6034	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3001G>A	12.37:g.122413586G>A	ENSP00000288912:p.Glu1001Lys		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E1001K	ENST00000288912.4	37	c.3001	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704031	0.48412	.	.	ENSG00000158023	ENST00000288912	T	0.80304	-1.36	5.05	5.05	0.67936	EF-hand-like domain (1);	0.263950	0.37669	N	0.001997	T	0.72922	0.3521	L	0.38175	1.15	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.68973	-0.5268	10	0.41790	T	0.15	.	14.0761	0.64891	0.0:0.1507:0.8493:0.0	.	1001	Q8TBY9	WDR66_HUMAN	K	1001	ENSP00000288912:E1001K	ENSP00000288912:E1001K	E	+	1	0	WDR66	120897969	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.703000	0.54808	2.341000	0.79615	0.561000	0.74099	GAG	WDR66	-	NULL		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	G	NM_144668		122413586	1	no_errors	ENST00000288912	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122413586	G	A	122413586	3	1	13	1	0	0	0	0	1	0	0	0	17348	943	33	1	3130	1	WDR66	12	122413586	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	465833	122413586	11438309	560	2004										
KNTC1	9735	genome.wustl.edu	37	chr12	123082420	123082420	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aactcctggccaaagcccttGagatggttcctttactgacg	9	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:123082420G>C	ENST00000333479.7	+	44	4675	c.4498G>C	c.(4498-4500)Gag>Cag	p.E1500Q	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1500					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAAGCCCTTGAGATGGTTCC	0.498																																																	0													85	86	86					12																	123082420		1960	4157	6117	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4498G>C	12.37:g.123082420G>C	ENSP00000328236:p.Glu1500Gln		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E1500Q	ENST00000333479.7	37	c.4498	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782531	0.31502	.	.	ENSG00000184445	ENST00000333479;ENST00000423927	T;T	0.45276	2.47;0.9	5.71	5.71	0.89125	.	0.106321	0.64402	D	0.000005	T	0.32164	0.0820	L	0.39020	1.185	0.80722	D	1	P	0.35456	0.502	B	0.31016	0.123	T	0.07271	-1.0781	10	0.30854	T	0.27	-17.969	14.0824	0.64932	0.0738:0.0:0.9262:0.0	.	1500	P50748	KNTC1_HUMAN	Q	1500;59	ENSP00000328236:E1500Q;ENSP00000397140:E59Q	ENSP00000328236:E1500Q	E	+	1	0	KNTC1	121648373	0.969000	0.33509	0.251000	0.24312	0.953000	0.61014	1.910000	0.39927	2.709000	0.92574	0.655000	0.94253	GAG	KNTC1	-	NULL		0.498	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123082420	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.646	C	C	123082420	G	C	123082420	3	2	13	1	0	0	0	0	1	0	0	0	8448	1291	45	1	4668	1	KNTC1	12	123082420	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	668834	123082420	10769475	561	2005										
SACS	26278	genome.wustl.edu	37	chr13	23907093	23907093	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttctttcagaaaatttccaGataacaaatccattcgttct	4	9	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:23907093G>C	ENST00000382292.3	-	9	11195	c.10922C>G	c.(10921-10923)tCt>tGt	p.S3641C	SACS_ENST00000402364.1_Missense_Mutation_p.S2891C|SACS_ENST00000382298.3_Missense_Mutation_p.S3641C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3641					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAATTTCCAGATAACAAATC	0.368																																																	0													39	44	42					13																	23907093		2202	4298	6500	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10922C>G	13.37:g.23907093G>C	ENSP00000371729:p.Ser3641Cys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S3641C	ENST00000382292.3	37	c.10922	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101315	0.37048	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88741	-2.26;-2.42;-2.26	6.04	5.2	0.72013	.	0.385815	0.30410	N	0.009696	D	0.82866	0.5130	N	0.19112	0.55	0.24966	N	0.991698	P	0.40660	0.726	B	0.40101	0.319	T	0.77474	-0.2574	10	0.56958	D	0.05	.	15.3763	0.74607	0.0664:0.0:0.9336:0.0	.	3641	Q9NZJ4	SACS_HUMAN	C	3641;2891;3641	ENSP00000371729:S3641C;ENSP00000385844:S2891C;ENSP00000371735:S3641C	ENSP00000371729:S3641C	S	-	2	0	SACS	22805093	1.000000	0.71417	0.944000	0.38274	0.885000	0.51271	3.340000	0.52143	1.576000	0.49790	0.563000	0.77884	TCT	SACS	-	NULL		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23907093	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	0.783	C	C	23907093	G	C	23907093	3	2	13	1	0	0	0	0	1	0	0	0	13834	942	33	1	2821	1	SACS	13	23907093	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		23907093	91262785	562	2006										
SHISA2	387914	genome.wustl.edu	37	chr13	26621171	26621171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgataaaggcgacaaacacgGagccaacaatgaggaacggc	12	9	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:26621171G>A	ENST00000319420.3	-	2	423	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	123					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GACAAACACGGAGCCAACAAT	0.547																																																	0													87	71	76					13																	26621171		2203	4300	6503	SO:0001583	missense	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.368C>T	13.37:g.26621171G>A	ENSP00000313079:p.Ser123Phe		B9EH70|Q5W0G8	Missense_Mutation	SNP	NULL	p.S123F	ENST00000319420.3	37	c.368	CCDS31951.1	13	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236644	0.79800	.	.	ENSG00000180730	ENST00000319420	T	0.51325	0.71	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.71217	-0.4658	10	0.72032	D	0.01	-28.3933	17.7042	0.88304	0.0:0.0:1.0:0.0	.	123	Q6UWI4	SHSA2_HUMAN	F	123	ENSP00000313079:S123F	ENSP00000313079:S123F	S	-	2	0	SHISA2	25519171	1.000000	0.71417	0.908000	0.35775	0.746000	0.42486	9.869000	0.99810	2.173000	0.68751	0.557000	0.71058	TCC	SHISA2	-	NULL		0.547	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA2	HGNC	protein_coding	OTTHUMT00000044239.2	G	NM_001007538		26621171	-1	no_errors	ENST00000319420	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26621171	G	A	26621171	3	1	13	1	0	0	0	0	1	0	0	0	14310	1174	41	1	523	1	SHISA2	13	26621171	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2714078	26621171	88548707	563	2007										
PDS5B	23047	genome.wustl.edu	37	chr13	33222994	33222994	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tatcagataaaatatctaaaGaggagatggtgagacgatta	10	3	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:33222994G>C	ENST00000315596.10	+	2	271	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	29					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATATCTAAAGAGGAGATGGT	0.378																																																	0													108	108	108					13																	33222994		1841	4071	5912	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.85G>C	13.37:g.33222994G>C	ENSP00000313851:p.Glu29Gln		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E29Q	ENST00000315596.10	37	c.85	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.392947	0.96009	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.36672	1.1	0.80722	D	1	D;P;P	0.54601	0.967;0.948;0.913	P;P;P	0.54889	0.763;0.466;0.614	T	0.64292	-0.6442	9	0.51188	T	0.08	-13.6884	19.2775	0.94038	0.0:0.0:1.0:0.0	.	29;29;29	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	Q	29	.	ENSP00000313851:E29Q	E	+	1	0	PDS5B	32120994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.692000	0.98682	2.548000	0.85928	0.591000	0.81541	GAG	PDS5B	-	NULL		0.378	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	G	NM_015032		33222994	1	no_errors	ENST00000315596	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33222994	G	C	33222994	3	2	13	1	0	0	0	0	1	0	0	0	11716	943	33	1	87	1	PDS5B	13	33222994	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	6601823	33222994	81946884	564	2008										
MAB21L1	4081	genome.wustl.edu	37	chr13	36049917	36049917	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgcgcgccgagaggtagccgGaggcggtaatgaattccacc	15	11	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:36049917G>C	ENST00000379919.4	-	1	915	c.359C>G	c.(358-360)tCc>tGc	p.S120C	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	120					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GAGGTAGCCGGAGGCGGTAAT	0.592																																																	0													45	46	46					13																	36049917		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.359C>G	13.37:g.36049917G>C	ENSP00000369251:p.Ser120Cys		Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.S120C	ENST00000379919.4	37	c.359	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077203	0.76415	.	.	ENSG00000180660	ENST00000379919	T	0.09073	3.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.08046	-1.0741	10	0.66056	D	0.02	-15.5188	19.7375	0.96212	0.0:0.0:1.0:0.0	.	120	Q13394	MB211_HUMAN	C	120	ENSP00000369251:S120C	ENSP00000369251:S120C	S	-	2	0	MAB21L1	34947917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	TCC	MAB21L1	-	pfam_Mab-21_dom		0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	G	NM_005584		36049917	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36049917	G	C	36049917	3	2	13	1	0	0	0	0	1	0	0	0	9164	1174	41	1	724	1	MAB21L1	13	36049917	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2826923	36049917	79119961	565	2009										
EPSTI1	94240	genome.wustl.edu	37	chr13	43462600	43462600	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaggcttttcgaggtcagttGatgaaggccagataggagtc	15	6	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:43462600G>C	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313624.7_3'UTR|EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.S340*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)											endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAGGTCAGTTGATGAAGGCCA	0.368																																																	0													75	78	77					13																	43462600		2203	4300	6503	SO:0001628	intergenic_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462600G>C			Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	NULL	p.S340*	ENST00000398762.3	37	c.1019	CCDS9387.1	13	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318413	0.23994	.	.	ENSG00000133106	ENST00000313640	.	.	.	5.53	3.77	0.43336	.	0.496482	0.15692	N	0.249387	.	.	.	.	.	.	0.42273	D	0.992063	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.1724	7.903	0.29746	0.0865:0.162:0.7516:0.0	.	.	.	.	X	340	.	ENSP00000318982:S340X	S	-	2	0	EPSTI1	42360600	0.947000	0.32204	0.157000	0.22605	0.005000	0.04900	1.624000	0.37018	0.797000	0.33971	-0.176000	0.13171	TCA	EPSTI1	-	NULL		0.368	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	G	NM_001002264		43462600	-1	no_errors	ENST00000313640	ensembl	human	known	70_37	nonsense	SNP	0.586	C	C	43462600	G	C	43462600	1	2	13	0	1	0	0	0	0	0	0	0	5210	1294	45	1		1	EPSTI1	13	43462600	IGR	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7412683	43462600	71707278	566	2010										
RB1	5925	genome.wustl.edu	37	chr13	49039158	49039158	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcaaacgtgttttgatcaaaGaagaggagtatgattctatt	9	4	3	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:49039158G>T	ENST00000267163.4	+	22	2374	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	746	Domain B.|Pocket; binds T and E1A.		E -> G (in dbSNP:rs3092905).		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.L743fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTGATCAAAGAAGAGGAGTA	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(12)|Deletion - Frameshift(1)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|pancreas(1)|liver(1)	GRCh37	CM040265	RB1	M							62	63	63					13																	49039158		2202	4300	6502	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2236G>T	13.37:g.49039158G>T	ENSP00000267163:p.Glu746*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.E746*	ENST00000267163.4	37	c.2236	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.008879	0.98607	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.118794	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.7237	19.3432	0.94352	0.0:0.0:1.0:0.0	.	.	.	.	X	725;746	.	ENSP00000267163:E746X	E	+	1	0	RB1	47937159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.593000	0.87608	0.591000	0.81541	GAA	RB1	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			49039158	1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49039158	G	T	49039158	4	4	13	1	0	0	0	0	0	1	0	0	13128	943	33	3	2322	3	RB1	13	49039158	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5576558	49039158	66130720	567	2011										
RB1	5925	genome.wustl.edu	37	chr13	49039374	49039374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caccaatacctcacattcctCgaagcccttacaagtttcct	3	16	1	0	rs137853293		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:49039374C>T	ENST00000267163.4	+	23	2497	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	787	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCACATTCCTCGAAGCCCTTA	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	30	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(4)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|oesophagus(1)|ovary(1)|prostate(1)|liver(1)	GRCh37	CM900196	RB1	M	rs137853293						155	160	158					13																	49039374		2203	4300	6503	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2359C>T	13.37:g.49039374C>T	ENSP00000267163:p.Arg787*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R787*	ENST00000267163.4	37	c.2359	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.630709	0.98399	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.072182	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6067	0.62052	0.271:0.729:0.0:0.0	.	.	.	.	X	766;787	.	ENSP00000267163:R787X	R	+	1	2	RB1	47937375	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.152000	0.42272	2.779000	0.95612	0.591000	0.81541	CGA	RB1	-	pfam_Rb_C		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			49039374	1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49039374	C	T	49039374	4	4	13	1	0	0	0	0	0	1	0	0	13128	876	31	1	2449	1	RB1	13	49039374	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	216	49039374	66130504	568	2012										
MLNR	2862	genome.wustl.edu	37	chr13	49795333	49795333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctgcgaggcccggccgcctCggggcgggagagaggccacc	19	15	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:49795333C>T	ENST00000218721.1	+	1	860	c.860C>T	c.(859-861)tCg>tTg	p.S287L	MLNR_ENST00000398307.1_Missense_Mutation_p.S287L	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	287					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCGGCCGCCTCGGGGCGGGAG	0.721																																																	0													7	9	8					13																	49795333		1956	3792	5748	SO:0001583	missense	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.860C>T	13.37:g.49795333C>T	ENSP00000218721:p.Ser287Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S287L	ENST00000218721.1	37	c.860	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	C	7.063	0.566819	0.13560	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.41400	1.0;1.0	4.43	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.644375	0.14515	N	0.314803	T	0.32376	0.0827	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24154	-1.0168	10	0.33141	T	0.24	-3.2095	5.1987	0.15252	0.1536:0.6279:0.0:0.2186	.	287	O43193	MTLR_HUMAN	L	287	ENSP00000218721:S287L;ENSP00000381352:S287L	ENSP00000218721:S287L	S	+	2	0	MLNR	48693334	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.777000	0.26718	0.094000	0.17404	0.462000	0.41574	TCG	MLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM		0.721	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	C	NM_001507		49795333	1	no_errors	ENST00000218721	ensembl	human	known	70_37	missense	SNP	0.001	T	T	49795333	C	T	49795333	3	4	13	1	0	0	0	0	1	0	0	0	9655	893	31	1	862	1	MLNR	13	49795333	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	755959	49795333	65374545	569	2013										
TBC1D4	9882	genome.wustl.edu	37	chr13	76055553	76055553	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgcgccttgtgctcgaagatGaataccgccgggttgggctg	15	10	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:76055553G>A	ENST00000377636.3	-	1	697	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TBC1D4_ENST00000431480.2_Silent_p.F117F|TBC1D4_ENST00000377625.2_Silent_p.F117F|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	117	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTCGAAGATGAATACCGCCG	0.672																																																	0													83	97	92					13																	76055553		2154	4263	6417	SO:0001819	synonymous_variant	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.351C>T	13.37:g.76055553G>A			A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.F117	ENST00000377636.3	37	c.351	CCDS41901.1	13																																																																																			TBC1D4	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom		0.672	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	G	NM_014832		76055553	-1	no_errors	ENST00000377636	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76055553	G	A	76055553	2	1	13	1	0	0	0	0	0	0	0	1	15652	1281	45	1		1	TBC1D4	13	76055553	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	26260220	76055553	39114325	570	2014										
KCTD12	115207	genome.wustl.edu	37	chr13	77459648	77459648	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgtaggagccgcggtagccGatggtgatgtagcccgagcg	18	9	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:77459648G>A	ENST00000377474.2	-	1	877	c.636C>T	c.(634-636)atC>atT	p.I212I	KCTD12_ENST00000317765.2_Silent_p.I212I|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	212					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CGCGGTAGCCGATGGTGATGT	0.726											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6	7	7					13																	77459648		1939	3934	5873	SO:0001819	synonymous_variant	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.636C>T	13.37:g.77459648G>A		1175		Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.I212	ENST00000377474.2	37	c.636	CCDS9455.1	13																																																																																			KCTD12	-	NULL		0.726	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD12	HGNC	protein_coding	OTTHUMT00000045309.2	G	NM_138444		77459648	-1	no_errors	ENST00000317765	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77459648	G	A	77459648	2	1	13	1	0	0	0	0	0	0	0	1	8119	1048	37	1		1	KCTD12	13	77459648	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1404095	77459648	37710230	571	2015										
FBXL3	26224	genome.wustl.edu	37	chr13	77581724	77581724	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcactttgggtgaatgtctGatgaaagcatcccagctact	9	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:77581724G>A	ENST00000355619.5	-	5	1167	c.843C>T	c.(841-843)atC>atT	p.I281I	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	281					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTGAATGTCTGATGAAAGCAT	0.388																																																	0													99	96	97					13																	77581724		2203	4300	6503	SO:0001819	synonymous_variant	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"F-boxes / Leucine-rich repeats"	13599	protein-coding gene	gene with protein product		605653	"F-box and leucine-rich repeat protein 3A"	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.843C>T	13.37:g.77581724G>A			B2RB04|Q9P122	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like	p.I281	ENST00000355619.5	37	c.843	CCDS9457.1	13																																																																																			FBXL3	-	NULL		0.388	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL3	HGNC	protein_coding	OTTHUMT00000045312.3	G			77581724	-1	no_errors	ENST00000355619	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77581724	G	A	77581724	2	1	13	1	0	0	0	0	0	0	0	1	5738	1280	45	1		1	FBXL3	13	77581724	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	122076	77581724	37588154	572	2016										
MYCBP2	23077	genome.wustl.edu	37	chr13	77695598	77695598	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgagaaagggcttggaggagGagtttgagaattctgatcca	15	4	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:77695598G>C	ENST00000544440.2	-	55	7953	c.7936C>G	c.(7936-7938)Cct>Gct	p.P2646A	MYCBP2_ENST00000407578.2_Missense_Mutation_p.P2684A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2646A|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.P109A					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTGGAGGAGGAGTTTGAGAA	0.398																																																	0													84	84	84					13																	77695598		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7936C>G	13.37:g.77695598G>C	ENSP00000444596:p.Pro2646Ala			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.P2684A	ENST00000544440.2	37	c.8050		13	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494895	0.64186	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.44881	1.7;1.7;1.7;0.91	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.80764	0.994;0.971	T	0.46555	-0.9183	10	0.24483	T	0.36	.	19.3377	0.94326	0.0:0.0:1.0:0.0	.	2646;2646	O75592-2;O75592	.;MYCB2_HUMAN	A	2646;2684;2646;109	ENSP00000349892:P2646A;ENSP00000384288:P2684A;ENSP00000444596:P2646A;ENSP00000353197:P109A	ENSP00000349892:P2646A	P	-	1	0	MYCBP2	76593599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.455000	0.97625	2.547000	0.85894	0.563000	0.77884	CCT	MYCBP2	-	superfamily_ARM-type_fold		0.398	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77695598	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77695598	G	C	77695598	3	2	13	1	0	0	0	0	1	0	0	0	10041	1174	41	1	6102	1	MYCBP2	13	77695598	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	113874	77695598	37474280	573	2017										
SLITRK6	84189	genome.wustl.edu	37	chr13	86370018	86370018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaactgaagatccaatattCggccaatgtgttcgagaaaa	8	9	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:86370018C>T	ENST00000400286.2	-	2	1224	c.626G>A	c.(625-627)cGa>cAa	p.R209Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	209					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCCAATATTCGGCCAATGTG	0.398																																																	0													98	87	91					13																	86370018		1875	4104	5979	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.626G>A	13.37:g.86370018C>T	ENSP00000383143:p.Arg209Gln		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R209Q	ENST00000400286.2	37	c.626	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378505	0.61735	.	.	ENSG00000184564	ENST00000400286	T	0.52295	0.67	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.31752	0.955	0.48452	D	0.999653	D	0.89917	1.0	D	0.64506	0.926	T	0.47446	-0.9117	10	0.29301	T	0.29	-11.4423	18.9858	0.92769	0.0:1.0:0.0:0.0	.	209	Q9H5Y7	SLIK6_HUMAN	Q	209	ENSP00000383143:R209Q	ENSP00000383143:R209Q	R	-	2	0	SLITRK6	85268019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	CGA	SLITRK6	-	NULL		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86370018	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86370018	C	T	86370018	3	4	13	1	0	0	0	0	1	0	0	0	14777	884	31	1	1903	1	SLITRK6	13	86370018	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8674420	86370018	28799860	574	2018										
GPR180	160897	genome.wustl.edu	37	chr13	95264620	95264620	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgccgaagggaatccatttGatcattttagtgctggagaa	11	6	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:95264620G>C	ENST00000376958.4	+	3	506	c.481G>C	c.(481-483)Gat>Cat	p.D161H		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	161					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GAATCCATTTGATCATTTTAG	0.328																																																	0													118	111	113					13																	95264620		2203	4300	6503	SO:0001583	missense	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.481G>C	13.37:g.95264620G>C	ENSP00000366157:p.Asp161His		A8K1D5	Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk	p.D161H	ENST00000376958.4	37	c.481	CCDS9472.1	13	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492723	0.64074	.	.	ENSG00000152749	ENST00000376958	T	0.44482	0.92	5.28	4.44	0.53790	Rhodopsin-like GPCR transmembrane domain (1);	0.142496	0.64402	D	0.000007	T	0.60340	0.2261	M	0.62723	1.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.60840	-0.7183	10	0.42905	T	0.14	-5.9581	14.3708	0.66838	0.072:0.0:0.928:0.0	.	161	Q86V85	GP180_HUMAN	H	161	ENSP00000366157:D161H	ENSP00000366157:D161H	D	+	1	0	GPR180	94062621	1.000000	0.71417	0.885000	0.34714	0.895000	0.52256	6.344000	0.72991	1.357000	0.45904	-0.157000	0.13467	GAT	GPR180	-	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk		0.328	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	HGNC	protein_coding	OTTHUMT00000045465.3	G	NM_180989		95264620	1	no_errors	ENST00000376958	ensembl	human	known	70_37	missense	SNP	0.997	C	C	95264620	G	C	95264620	3	2	13	1	0	0	0	0	1	0	0	0	6695	1290	45	1	491	1	GPR180	13	95264620	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8894602	95264620	19905258	575	2019										
PCCA	5095	genome.wustl.edu	37	chr13	100741455	100741455	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgccgcagcagctgatgctGagcgcggcgctgcggaccct	15	16	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:100741455G>A	ENST00000376285.1	+	1	119	c.81G>A	c.(79-81)ctG>ctA	p.L27L	PCCA_ENST00000376279.3_Silent_p.L27L|PCCA_ENST00000376286.4_Silent_p.L27L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	27					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGCTGATGCTGAGCGCGGCGC	0.741																																																	0													6	7	6					13																	100741455		2016	3952	5968	SO:0001819	synonymous_variant	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.81G>A	13.37:g.100741455G>A			B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.L27	ENST00000376285.1	37	c.81	CCDS9496.2	13																																																																																			PCCA	-	superfamily_PreATP-grasp_fold		0.741	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	G			100741455	1	no_errors	ENST00000376285	ensembl	human	known	70_37	silent	SNP	0.003	A	A	100741455	G	A	100741455	2	1	13	1	0	0	0	0	0	0	0	1	11528	1277	45	1		1	PCCA	13	100741455	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5476835	100741455	14428423	576	2020										
FGF14	2259	genome.wustl.edu	37	chr13	102568803	102568803	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgaccatgacccccacagacCttggcgccgcaacctgcgct	9	19	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:102568803C>A	ENST00000376143.4	-	1	192	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	65					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCACAGACCTTGGCGCCGC	0.657																																																	0													42	44	43					13																	102568803		2203	4300	6503	SO:0001630	splice_region_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.193+1G>T	13.37:g.102568803C>A			Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.D65Y	ENST00000376143.4	37	c.193	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672244	0.29693	.	.	ENSG00000102466	ENST00000376143	T	0.77229	-1.08	5.36	3.62	0.41486	.	.	.	.	.	T	0.67702	0.2921	N	0.22421	0.69	0.80722	D	1	P	0.43412	0.806	P	0.45753	0.492	T	0.61486	-0.7053	8	.	.	.	.	10.5191	0.44907	0.1328:0.7976:0.0:0.0696	.	65	Q92915	FGF14_HUMAN	Y	65	ENSP00000365313:D65Y	.	D	-	1	0	FGF14	101366804	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.541000	0.67212	0.620000	0.30215	-0.311000	0.09066	GAT	FGF14	-	NULL		0.657	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	C		Missense_Mutation	102568803	-1	no_errors	ENST00000376143	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102568803	C	A	102568803	5	1	13	1	0	0	0	0	0	0	1	0	5861	695	24	4	570	4	FGF14	13	102568803	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1827348	102568803	12601075	577	2021										
COL4A2	1284	genome.wustl.edu	37	chr13	110960452	110960452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acagtgaccgtggggttcctCgcccagagcgtcttggcggt	15	12	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:110960452C>T	ENST00000360467.5	+	3	387	c.81C>T	c.(79-81)ctC>ctT	p.L27L	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	27					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGGTTCCTCGCCCAGAGCG	0.647																																																	0													68	77	74					13																	110960452		2058	4183	6241	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.81C>T	13.37:g.110960452C>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L27	ENST00000360467.5	37	c.81	CCDS41907.1	13																																																																																			COL4A2	-	NULL		0.647	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		110960452	1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.152	T	T	110960452	C	T	110960452	2	4	13	1	0	0	0	0	0	0	0	1	3695	871	31	1		1	COL4A2	13	110960452	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8391649	110960452	4209426	578	2022										
TUBGCP3	10426	genome.wustl.edu	37	chr13	113158448	113158448	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggcctgctggactttgttCcaaagctcatcccaagaaca	9	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:113158448C>G	ENST00000261965.3	-	19	2391	c.2205G>C	c.(2203-2205)tgG>tgC	p.W735C	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.W735C	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	735					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GGACTTTGTTCCAAAGCTCAT	0.463																																																	0													123	109	114					13																	113158448		2203	4300	6503	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2205G>C	13.37:g.113158448C>G	ENSP00000261965:p.Trp735Cys		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.W735C	ENST00000261965.3	37	c.2205	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190106	0.38707	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07216	3.21;3.21	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.34521	1.04	0.80722	D	1	D;B;D	0.61697	0.99;0.063;0.99	D;B;D	0.67231	0.95;0.02;0.95	T	0.01516	-1.1335	10	0.39692	T	0.17	-20.4219	18.4668	0.90758	0.0:1.0:0.0:0.0	.	725;735;735	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	C	735	ENSP00000261965:W735C;ENSP00000364821:W735C	ENSP00000261965:W735C	W	-	3	0	TUBGCP3	112206449	1.000000	0.71417	0.998000	0.56505	0.022000	0.10575	7.132000	0.77251	2.351000	0.79841	0.585000	0.79938	TGG	TUBGCP3	-	pfam_Spc97_Spc98		0.463	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	C	NM_006322		113158448	-1	no_errors	ENST00000261965	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113158448	C	G	113158448	3	3	13	1	0	0	0	0	1	0	0	0	16798	856	30	1	534	1	TUBGCP3	13	113158448	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2197996	113158448	2011430	579	2023										
CUL4A	8451	genome.wustl.edu	37	chr13	113893808	113893808	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcacagatgtaccagctgttCagccgggtgaggggcgggca	17	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:113893808C>T	ENST00000375440.4	+	10	1062	c.978C>T	c.(976-978)ttC>ttT	p.F326F	CUL4A_ENST00000451881.1_Silent_p.F226F|CUL4A_ENST00000375441.3_Silent_p.F226F|CUL4A_ENST00000326335.4_Silent_p.F226F	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	326					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACCAGCTGTTCAGCCGGGTGA	0.622																																																	0													71	66	68					13																	113893808		2203	4300	6503	SO:0001819	synonymous_variant	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.978C>T	13.37:g.113893808C>T			A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.F326	ENST00000375440.4	37	c.978	CCDS41908.1	13																																																																																			CUL4A	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.622	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	C	NM_003589		113893808	1	no_errors	ENST00000375440	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113893808	C	T	113893808	2	4	13	1	0	0	0	0	0	0	0	1	4062	825	29	1		1	CUL4A	13	113893808	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	735360	113893808	1276070	580	2024										
GAS6	2621	genome.wustl.edu	37	chr13	114549541	114549541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgagtttttggtgtacggaGacccatacttgttgatgcag	12	7	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:114549541G>C	ENST00000327773.6	-	4	448	c.302C>G	c.(301-303)tCt>tGt	p.S101C	GAS6_ENST00000355761.4_Missense_Mutation_p.S47C|GAS6_ENST00000357389.3_Missense_Mutation_p.S101C|GAS6_ENST00000476291.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	101					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGTACGGAGACCCATACTT	0.547																																																	0													173	151	159					13																	114549541		2203	4300	6503	SO:0001583	missense	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.302C>G	13.37:g.114549541G>C	ENSP00000331831:p.Ser101Cys		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.S101C	ENST00000327773.6	37	c.302	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474802	0.43942	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.99806	-6.84;-2.31;-6.84	3.81	2.92	0.33932	.	.	.	.	.	D	0.99498	0.9821	M	0.85777	2.775	0.20489	N	0.999896	D	0.58268	0.982	P	0.50490	0.642	D	0.99880	1.1111	9	0.72032	D	0.01	-0.9259	9.4927	0.38969	0.0:0.2297:0.7703:0.0	.	101	Q14393-2	.	C	101;47;101	ENSP00000349962:S101C;ENSP00000348003:S47C;ENSP00000331831:S101C	ENSP00000331831:S101C	S	-	2	0	GAS6	113564402	0.493000	0.26035	0.017000	0.16124	0.017000	0.09413	1.455000	0.35190	0.843000	0.35070	0.561000	0.74099	TCT	GAS6	-	superfamily_GLA_domain		0.547	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	G	NM_000820		114549541	-1	no_errors	ENST00000357389	ensembl	human	known	70_37	missense	SNP	0.144	C	C	114549541	G	C	114549541	3	2	13	1	0	0	0	0	1	0	0	0	6268	942	33	1	1782	1	GAS6	13	114549541	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	655733	114549541	620337	581	2025										
RAB2B	84932	genome.wustl.edu	37	chr14	21936574	21936574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agagtgctgccgggcatcctCtaaccatgaggtcaggtggt	14	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:21936574C>G	ENST00000397762.1	-	5	404	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	102					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CGGGCATCCTCTAACCATGAG	0.428																																					Melanoma(131;1007 1750 28652 34486 42672)												0													74	72	73					14																	21936574		2203	4300	6503	SO:0001583	missense	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.304G>C	14.37:g.21936574C>G	ENSP00000380869:p.Glu102Gln		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E102Q	ENST00000397762.1	37	c.304	CCDS9570.1	14	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434365	0.62955	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.77358	-1.09	5.06	4.16	0.48862	Small GTP-binding protein domain (1);	0.219650	0.31335	N	0.007822	T	0.64735	0.2625	N	0.16743	0.435	0.80722	D	1	B;B	0.28378	0.006;0.209	B;B	0.28709	0.022;0.093	T	0.64411	-0.6414	10	0.49607	T	0.09	.	14.4698	0.67509	0.0:0.8515:0.1485:0.0	.	102;37	Q8WUD1;Q6NZ33	RAB2B_HUMAN;.	Q	102	ENSP00000380869:E102Q	ENSP00000302005:E102Q	E	-	1	0	RAB2B	21006414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.245000	0.78237	1.337000	0.45525	0.655000	0.94253	GAG	RAB2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	C			21936574	-1	no_errors	ENST00000397762	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21936574	C	G	21936574	3	3	13	1	0	0	0	0	1	0	0	0	12948	922	32	1	362	1	RAB2B	14	21936574	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		21936574	85412966	582	2026										
OR10G3	26533	genome.wustl.edu	37	chr14	22037976	22037976	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggcttctgagcattcttttCagggccagcttcacctcttg	10	12	5	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:22037976C>G	ENST00000303532.1	-	1	899	c.900G>C	c.(898-900)ctG>ctC	p.L300L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCATTCTTTTCAGGGCCAGCT	0.512																																																	0													50	52	52					14																	22037976		2203	4300	6503	SO:0001819	synonymous_variant	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.900G>C	14.37:g.22037976C>G			Q6IET7|Q96R77	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L300	ENST00000303532.1	37	c.900	CCDS32046.1	14																																																																																			OR10G3	-	NULL		0.512	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G3	HGNC	protein_coding	OTTHUMT00000401521.1	C			22037976	-1	no_errors	ENST00000303532	ensembl	human	known	70_37	silent	SNP	0.996	G	G	22037976	C	G	22037976	2	3	13	1	0	0	0	0	0	0	0	1	10924	813	29	1		1	OR10G3	14	22037976	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	101402	22037976	85311564	583	2027										
HOMEZ	57594	genome.wustl.edu	37	chr14	23744829	23744829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcatcatcatcatcatcttcCtcctcctcctcctcctcttc	0	20	7	0	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000431326.2_Silent_p.E538E|HOMEZ_ENST00000561013.1_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001																0													32	32	32					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E538	ENST00000357460.5	37	c.1614	CCDS45085.1	14																																																																																			RP11-124D2.6	-	NULL		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	C	NM_020834		23744829	-1	no_errors	ENST00000431326	ensembl	human	known	70_37	silent	SNP	0.005	T	T	23744829	C	T	23744829	2	4	13	1	0	0	0	0	0	0	0	1	7301	680	24	4		4	HOMEZ	14	23744829	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1706853	23744829	83604711	584	2028										
AP4S1	11154	genome.wustl.edu	37	chr14	31549837	31549837	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagtacttggcaaatgcactCtggtccttatcaggtaagta	9	9	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:31549837C>G	ENST00000542754.2	+	5	699				AP4S1_ENST00000554345.1_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Missense_Mutation_p.S118C|AP4S1_ENST00000216366.4_Missense_Mutation_p.S118C|AP4S1_ENST00000313566.6_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		CAAATGCACTCTGGTCCTTAT	0.418																																					Pancreas(128;620 2365 4508 44145)												0													118	102	108					14																	31549837		2203	4300	6503	SO:0001627	intron_variant	11154			AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+47C>G	14.37:g.31549837C>G			G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.S118C	ENST00000542754.2	37	c.353	CCDS45093.1	14	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434512	0.43224	.	.	ENSG00000100478	ENST00000216366;ENST00000334725	.	.	.	5.0	-3.64	0.04515	.	2.800460	0.01333	N	0.011307	T	0.30479	0.0766	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.40831	-0.9542	9	0.59425	D	0.04	.	9.1623	0.37030	0.3141:0.2112:0.4747:0.0	.	118;118	Q86U36;Q9Y587-2	.;.	C	118	.	ENSP00000216366:S118C	S	+	2	0	AP4S1	30619588	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.268000	0.08607	-0.325000	0.08577	-0.955000	0.02649	TCT	AP4S1	-	pirsf_AP_complex_ssu		0.418	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP4S1	HGNC	protein_coding	OTTHUMT00000409723.1	C			31549837	1	no_errors	ENST00000216366	ensembl	human	known	70_37	missense	SNP	0.000	G	G	31549837	C	G	31549837	1	3	13	0	1	0	0	0	0	0	0	0	754	913	32	1		1	AP4S1	14	31549837	Intron	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7805008	31549837	75799703	585	2029										
HEATR5A	25938	genome.wustl.edu	37	chr14	31858053	31858053	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgatttgtgattccaacctGagtaactccaactcgaacat	6	11	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:31858053G>C	ENST00000389961.3	-	6	912	c.913C>G	c.(913-915)Cag>Gag	p.Q305E	HEATR5A_ENST00000404677.3_Missense_Mutation_p.Q311E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.Q305E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.Q311E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.Q18E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	305										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATTCCAACCTGAGTAACTCCA	0.438																																																	0													193	170	178					14																	31858053		1894	4122	6016	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.913C>G	14.37:g.31858053G>C	ENSP00000374611:p.Gln305Glu		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q305E	ENST00000389961.3	37	c.913		14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562777	0.86335	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.74674	0.984	T	0.00230	-1.1897	10	0.48119	T	0.1	.	19.2773	0.94038	0.0:0.0:1.0:0.0	.	311	B5MC49	.	E	305;305;18;311;311	ENSP00000374611:Q305E;ENSP00000405407:Q305E;ENSP00000408681:Q18E;ENSP00000437968:Q311E;ENSP00000384646:Q311E	ENSP00000374611:Q305E	Q	-	1	0	HEATR5A	30927804	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.429000	0.97481	2.556000	0.86216	0.491000	0.48974	CAG	HEATR5A	-	superfamily_ARM-type_fold		0.438	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		G	NM_015473		31858053	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31858053	G	C	31858053	3	2	13	1	0	0	0	0	1	0	0	0	7051	1299	45	1	5329	1	HEATR5A	14	31858053	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	308216	31858053	75491487	586	2030										
MDGA2	161357	genome.wustl.edu	37	chr14	47530502	47530502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgatatcagatattcctcctCccttcagagatgctacacat	5	12	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:47530502C>T	ENST00000399232.2	-	7	1632	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	MDGA2_ENST00000439988.3_Missense_Mutation_p.G492E|MDGA2_ENST00000357362.3_Missense_Mutation_p.G194E|MDGA2_ENST00000426342.1_Missense_Mutation_p.G194E	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	423	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATTCCTCCTCCCTTCAGAGA	0.378																																																	0													150	138	142					14																	47530502		1908	4119	6027	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1268G>A	14.37:g.47530502C>T	ENSP00000382178:p.Gly423Glu		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.G492E	ENST00000399232.2	37	c.1475		14	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627537	0.66901	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000120	T	0.77130	0.4085	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.73011	-0.4117	10	0.30854	T	0.27	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	423	Q7Z553	MDGA2_HUMAN	E	423;194;492;194	ENSP00000400011:G423E;ENSP00000405456:G194E;ENSP00000382178:G492E;ENSP00000349925:G194E	ENSP00000349925:G194E	G	-	2	0	MDGA2	46600252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.806000	0.69150	2.658000	0.90341	0.655000	0.94253	GGA	MDGA2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	C	NM_182830		47530502	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47530502	C	T	47530502	3	4	13	1	0	0	0	0	1	0	0	0	9430	855	30	1	1646	1	MDGA2	14	47530502	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	15672449	47530502	59819038	587	2031										
FRMD6	122786	genome.wustl.edu	37	chr14	52174875	52174875	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcagtttgcactaacagcttCcgaagctcatcttaaatata	5	10	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:52174875C>G	ENST00000344768.5	+	7	834	c.638C>G	c.(637-639)tCc>tGc	p.S213C	FRMD6_ENST00000554167.1_Missense_Mutation_p.S136C|FRMD6_ENST00000356218.4_Missense_Mutation_p.S205C|FRMD6_ENST00000395718.2_Missense_Mutation_p.S205C			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	213	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTAACAGCTTCCGAAGCTCAT	0.438																																																	0													116	99	105					14																	52174875		2203	4300	6503	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.638C>G	14.37:g.52174875C>G	ENSP00000343899:p.Ser213Cys		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S213C	ENST00000344768.5	37	c.638	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870244	0.51588	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000557405	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.42	5.42	0.78866	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.43152	1.355	0.80722	D	1	B;B;B	0.33413	0.411;0.231;0.087	B;B;B	0.34301	0.112;0.179;0.112	T	0.14282	-1.0478	10	0.72032	D	0.01	.	19.2076	0.93739	0.0:1.0:0.0:0.0	.	136;213;205	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	C	205;205;213;136;103	ENSP00000348550:S205C;ENSP00000379068:S205C;ENSP00000343899:S213C;ENSP00000451977:S136C;ENSP00000450667:S103C	ENSP00000343899:S213C	S	+	2	0	FRMD6	51244625	1.000000	0.71417	0.997000	0.53966	0.537000	0.34900	4.816000	0.62642	2.552000	0.86080	0.591000	0.81541	TCC	FRMD6	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.438	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	C	NM_152330		52174875	1	no_errors	ENST00000344768	ensembl	human	known	70_37	missense	SNP	0.999	G	G	52174875	C	G	52174875	3	3	13	1	0	0	0	0	1	0	0	0	6072	855	30	1	636	1	FRMD6	14	52174875	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4644373	52174875	55174665	588	2032										
NID2	22795	genome.wustl.edu	37	chr14	52534754	52534754	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcggtacaggactcggcctCtgccgtggctcgtgtcgatg	14	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:52534754C>T	ENST00000216286.5	-	2	355	c.356G>A	c.(355-357)aGa>aAa	p.R119K	NID2_ENST00000541773.1_Missense_Mutation_p.R66K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	119	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GACTCGGCCTCTGCCGTGGCT	0.662																																																	0													27	33	31					14																	52534754		2203	4300	6503	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.356G>A	14.37:g.52534754C>T	ENSP00000216286:p.Arg119Lys		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R119K	ENST00000216286.5	37	c.356	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074571	0.36566	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.21932	1.98;1.98	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.088407	0.85682	D	0.000000	T	0.15392	0.0371	L	0.39633	1.23	0.25035	N	0.991245	B;B;B	0.26081	0.141;0.013;0.003	B;B;B	0.22753	0.041;0.007;0.003	T	0.21586	-1.0241	10	0.12103	T	0.63	.	10.0966	0.42480	0.0:0.8514:0.0:0.1486	.	66;121;119	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	K	119;119;66;121	ENSP00000216286:R119K;ENSP00000443730:R66K	ENSP00000216286:R119K	R	-	2	0	NID2	51604504	0.577000	0.26708	0.999000	0.59377	0.985000	0.73830	2.023000	0.41040	2.626000	0.88956	0.563000	0.77884	AGA	NID2	-	smart_Nidogen_extracell_dom		0.662	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	C			52534754	-1	no_errors	ENST00000216286	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52534754	C	T	52534754	3	4	13	1	0	0	0	0	1	0	0	0	10439	913	32	1	3855	1	NID2	14	52534754	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	359879	52534754	54814786	589	2033										
SAMD4A	23034	genome.wustl.edu	37	chr14	55231202	55231202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctcttggtctccagacctGatgaggaaaatataagttcc	9	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:55231202G>A	ENST00000554335.1	+	8	2203	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	SAMD4A_ENST00000392067.3_Missense_Mutation_p.D514N|SAMD4A_ENST00000555192.1_Missense_Mutation_p.D105N|SAMD4A_ENST00000251091.5_Missense_Mutation_p.D426N|SAMD4A_ENST00000357634.3_Missense_Mutation_p.D513N			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	514					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTCCAGACCTGATGAGGAAAA	0.358																																																	0													165	173	170					14																	55231202		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1540G>A	14.37:g.55231202G>A	ENSP00000452535:p.Asp514Asn		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.D514N	ENST00000554335.1	37	c.1540	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	G	32	5.139709	0.94560	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	4.78	4.78	0.61160	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.72118	2.19	0.58432	D	0.99999	P;D;P	0.71674	0.887;0.998;0.483	P;D;B	0.69142	0.811;0.962;0.146	T	0.80892	-0.1179	9	0.72032	D	0.01	-17.3663	17.9997	0.89195	0.0:0.0:1.0:0.0	.	105;426;514	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	N	514;514;426;425;513;105	.	ENSP00000251091:D143N	D	+	1	0	SAMD4A	54300952	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	9.246000	0.95438	2.492000	0.84095	0.514000	0.50259	GAT	SAMD4A	-	NULL		0.358	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	G	NM_015589		55231202	1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55231202	G	A	55231202	3	1	13	1	0	0	0	0	1	0	0	0	13851	1290	45	1	1563	1	SAMD4A	14	55231202	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2696448	55231202	52118338	590	2034										
FBXO34	55030	genome.wustl.edu	37	chr14	55818718	55818718	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atttgtactgccagcctcttCtgtggaaagtacattaccag	8	10	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:55818718C>T	ENST00000313833.4	+	2	1855	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	FBXO34_ENST00000440021.1_Missense_Mutation_p.S537F	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	537										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCAGCCTCTTCTGTGGAAAGT	0.512																																																	0													127	123	124					14																	55818718		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1610C>T	14.37:g.55818718C>T	ENSP00000313159:p.Ser537Phe		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S537F	ENST00000313833.4	37	c.1610	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	C	2.419	-0.333636	0.05278	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.18657	2.2;2.2	5.49	1.59	0.23543	.	0.927090	0.08779	N	0.894943	T	0.11239	0.0274	N	0.22421	0.69	0.09310	N	1	P	0.37636	0.603	B	0.26969	0.075	T	0.22034	-1.0228	10	0.72032	D	0.01	0.1888	5.0515	0.14511	0.1224:0.6294:0.1181:0.13	.	537	Q9NWN3	FBX34_HUMAN	F	537	ENSP00000313159:S537F;ENSP00000394117:S537F	ENSP00000313159:S537F	S	+	2	0	FBXO34	54888471	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.021000	0.12504	0.121000	0.18284	-0.136000	0.14681	TCT	FBXO34	-	NULL		0.512	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	C			55818718	1	no_errors	ENST00000313833	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55818718	C	T	55818718	3	4	13	1	0	0	0	0	1	0	0	0	5762	913	32	1	1612	1	FBXO34	14	55818718	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	587516	55818718	51530822	591	2035										
DAAM1	23002	genome.wustl.edu	37	chr14	59789712	59789712	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctcgaatacatacttctctCattggctgtataaaggcgtt	7	9	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:59789712C>G	ENST00000395125.1	+	5	566	c.543C>G	c.(541-543)ctC>ctG	p.L181L	DAAM1_ENST00000351081.1_Silent_p.L181L|DAAM1_ENST00000360909.3_Silent_p.L181L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	181	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATACTTCTCTCATTGGCTGTA	0.443																																																	0													119	112	114					14																	59789712		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.543C>G	14.37:g.59789712C>G			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.L181	ENST00000395125.1	37	c.543	CCDS9737.1	14																																																																																			DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.443	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	C	NM_014992		59789712	1	no_errors	ENST00000351081	ensembl	human	known	70_37	silent	SNP	1.000	G	G	59789712	C	G	59789712	2	3	13	1	0	0	0	0	0	0	0	1	4220	813	29	1		1	DAAM1	14	59789712	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3970994	59789712	47559828	592	2036										
PRKCH	5583	genome.wustl.edu	37	chr14	61789110	61789110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccctgggctacgaccacttCgtggccaactgcaccctgca	9	18	0	0	rs561279740		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:61789110C>G	ENST00000332981.5	+	1	676	c.291C>G	c.(289-291)ttC>ttG	p.F97L	RP11-902B17.1_ENST00000500036.2_RNA|PRKCH_ENST00000555082.1_5'Flank	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	97	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACGACCACTTCGTGGCCAACT	0.632																																					Melanoma(135;863 1779 8064 14443 26348)												0													50	46	47					14																	61789110		2203	4299	6502	SO:0001583	missense	5583			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.291C>G	14.37:g.61789110C>G	ENSP00000329127:p.Phe97Leu		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F97L	ENST00000332981.5	37	c.291	CCDS9752.1	14	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211583	0.79240	.	.	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.69435	-0.4;-0.4	4.85	-0.267	0.12938	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	T	0.79545	0.4464	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75566	-0.3273	10	0.36615	T	0.2	.	9.2913	0.37789	0.0:0.5092:0.0:0.4908	.	97	P24723	KPCL_HUMAN	L	97	ENSP00000452129:F97L;ENSP00000329127:F97L	ENSP00000329127:F97L	F	+	3	2	PRKCH	60858863	0.712000	0.27916	0.993000	0.49108	0.997000	0.91878	-0.126000	0.10563	-0.241000	0.09681	0.655000	0.94253	TTC	PRKCH	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting		0.632	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2	C	NM_006255		61789110	1	no_errors	ENST00000332981	ensembl	human	known	70_37	missense	SNP	0.996	G	G	61789110	C	G	61789110	3	3	13	1	0	0	0	0	1	0	0	0	12540	883	31	1	293	1	PRKCH	14	61789110	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1999398	61789110	45560430	593	2037										
SYNE2	23224	genome.wustl.edu	37	chr14	64473783	64473783	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaaaatcattaatcagactgGataaggttctagatgaatat	7	4	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:64473783G>C	ENST00000344113.4	+	31	4632	c.4420G>C	c.(4420-4422)Gat>Cat	p.D1474H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1474H|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1474H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1474					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCAGACTGGATAAGGTTCT	0.343																																																	0													113	106	108					14																	64473783		1830	4084	5914	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4420G>C	14.37:g.64473783G>C	ENSP00000341781:p.Asp1474His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1474H	ENST00000344113.4	37	c.4420	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171762	0.38315	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58506	0.7;0.7;0.33	5.62	4.73	0.59995	.	0.339453	0.25161	N	0.032678	T	0.63710	0.2534	L	0.47716	1.5	0.80722	D	1	D;D	0.57571	0.966;0.98	P;P	0.58873	0.707;0.847	T	0.64153	-0.6474	10	0.52906	T	0.07	.	10.1438	0.42751	0.1536:0.0:0.8464:0.0	.	1474;1474	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	1474	ENSP00000350719:D1474H;ENSP00000341781:D1474H;ENSP00000452570:D1474H	ENSP00000261678:D1474H	D	+	1	0	SYNE2	63543536	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.374000	0.52402	1.362000	0.46000	0.655000	0.94253	GAT	SYNE2	-	smart_Spectrin/alpha-actinin		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64473783	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64473783	G	C	64473783	3	2	13	1	0	0	0	0	1	0	0	0	15476	1174	41	1	4538	1	SYNE2	14	64473783	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2684673	64473783	42875757	594	2038										
SYNE2	23224	genome.wustl.edu	37	chr14	64628920	64628920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcagcaggaagcaaagtttCaacagctcgcaaacatcagc	9	11	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:64628920C>G	ENST00000344113.4	+	88	16437	c.16225C>G	c.(16225-16227)Caa>Gaa	p.Q5409E	SYNE2_ENST00000357395.3_Missense_Mutation_p.Q1794E|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1794E|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q5326E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q2043E|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5409E|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5409					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAAAGTTTCAACAGCTCGC	0.537																																																	0													115	109	111					14																	64628920		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16225C>G	14.37:g.64628920C>G	ENSP00000341781:p.Gln5409Glu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q5409E	ENST00000344113.4	37	c.16225	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873644	0.17322	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.54866	0.86;4.17;0.87;0.55;4.21;4.17	5.74	2.5	0.30297	.	0.641961	0.13881	N	0.356353	T	0.41236	0.1150	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.18013	0.004;0.002;0.0;0.004;0.025	B;B;B;B;B	0.15484	0.012;0.003;0.001;0.008;0.013	T	0.26883	-1.0090	10	0.15066	T	0.55	.	7.614	0.28148	0.4623:0.3125:0.2252:0.0	.	1794;5332;5326;5409;5409	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	E	5409;1794;5409;5326;5332;2043;1794	ENSP00000350719:Q5409E;ENSP00000349969:Q1794E;ENSP00000341781:Q5409E;ENSP00000452570:Q5326E;ENSP00000450831:Q2043E;ENSP00000378249:Q1794E	ENSP00000261678:Q5332E	Q	+	1	0	SYNE2	63698673	0.003000	0.15002	0.085000	0.20634	0.759000	0.43091	1.179000	0.31993	0.699000	0.31761	0.655000	0.94253	CAA	SYNE2	-	NULL		0.537	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64628920	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.001	G	G	64628920	C	G	64628920	3	3	13	1	0	0	0	0	1	0	0	0	15476	827	29	1	16571	1	SYNE2	14	64628920	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	155137	64628920	42720620	595	2039										
MAX	4149	genome.wustl.edu	37	chr14	65544131	65544131	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaggaacaaagaacttgatCagctctcgctttcccctgtg	8	13	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:65544131C>G	ENST00000358664.4	-	4	426				MAX_ENST00000557746.1_Nonstop_Mutation_p.*122S|MAX_ENST00000284165.6_3'UTR|MAX_ENST00000555419.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Intron|MAX_ENST00000556979.1_Nonstop_Mutation_p.*104S|MAX_ENST00000557277.1_Missense_Mutation_p.D13H|MAX_ENST00000555667.1_Nonstop_Mutation_p.*95S|MAX_ENST00000555932.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		AGAACTTGATCAGCTCTCGCT	0.488																																																	0													84	84	84					14																	65544131		1902	4129	6031	SO:0001627	intron_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.295+499G>C	14.37:g.65544131C>G			A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	NULL	p.D13H	ENST00000358664.4	37	c.37	CCDS9771.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.344119|2.344119	0.41498|0.41498	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000557277|ENST00000556979;ENST00000555667;ENST00000557746	D|.	0.85339|.	-1.97|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|.	0.69441|.	0.3111|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67146|.	-0.5744|.	5|.	.|.	.|.	.|.	.|.	14.0921|14.0921	0.64998|0.64998	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	H|S	13|104;95;122	ENSP00000450955:D13H|.	.|.	D|X	-|-	1|2	0|2	MAX|MAX	64613884|64613884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.347000|3.347000	0.52200|0.52200	2.705000|2.705000	0.92388|0.92388	0.585000|0.585000	0.79938|0.79938	GAT|TGA	MAX	-	NULL		0.488	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	C	NM_197957		65544131	-1	no_errors	ENST00000557277	ensembl	human	putative	70_37	missense	SNP	1.000	G	G	65544131	C	G	65544131	1	3	13	0	1	0	0	0	0	0	0	0	9362	837	29	1		1	MAX	14	65544131	Intron	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	915211	65544131	41805409	596	2040										
HEATR4	399671	genome.wustl.edu	37	chr14	73945450	73945450	+	Missense_Mutation	SNP	C	C	A													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccttttctcgggggaggtgCgtagatctttgacaagtgat							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:73945450C>A	ENST00000553558.1	-	18	3263	c.2942G>T	c.(2941-2943)cGc>cTc	p.R981L	HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.R934L|HEATR4_ENST00000334988.2_Missense_Mutation_p.R981L|RP1-240K6.3_ENST00000515412.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	981										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGGGGAGGTGCGTAGATCTTT	0.488																																																	0													147	131	136					14																	73945450		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2942G>T	14.37:g.73945450C>A	ENSP00000450444:p.Arg981Leu		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R981L	ENST00000553558.1	37	c.2942	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844104	0.51164	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.30182	1.54	4.37	2.45	0.29901	.	0.506627	0.17645	N	0.166868	T	0.27134	0.0665	L	0.27053	0.805	0.25848	N	0.983979	D	0.53619	0.961	P	0.51453	0.67	T	0.06232	-1.0838	10	0.72032	D	0.01	-5.3851	5.8353	0.18602	0.0:0.7476:0.0:0.2524	.	981	Q86WZ0	HEAT4_HUMAN	L	981;934	ENSP00000450444:R981L	ENSP00000335447:R934L	R	-	2	0	HEATR4	73015203	0.684000	0.27642	0.857000	0.33713	0.279000	0.26890	0.507000	0.22675	0.717000	0.32145	0.449000	0.29647	CGC	HEATR4	-	NULL		0.488	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73945450	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.882	A	A	73945450	C	A	73945450	3	1	13	1	0	0	0	0	1	0	0	0	7050	768	27	2	142	2	HEATR4	14	73945450	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8401319	73945450	33404090	597	2041	8	2								
HEATR4	399671	genome.wustl.edu	37	chr14	73945457	73945457	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcgggggaggtgcgtagatCtttgacaagtgatgaacgaa							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:73945457C>T	ENST00000553558.1	-	18	3256	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.D932N|HEATR4_ENST00000334988.2_Missense_Mutation_p.D979N|RP1-240K6.3_ENST00000515412.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	979										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTGCGTAGATCTTTGACAAGT	0.483																																																	0													154	136	142					14																	73945457		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2935G>A	14.37:g.73945457C>T	ENSP00000450444:p.Asp979Asn		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D979N	ENST00000553558.1	37	c.2935	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958031	0.34565	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.27720	1.65	4.37	2.45	0.29901	.	0.664722	0.14036	N	0.345767	T	0.18509	0.0444	L	0.27053	0.805	0.23886	N	0.996565	B	0.17667	0.023	B	0.15052	0.012	T	0.18808	-1.0325	10	0.29301	T	0.29	-7.0542	5.8353	0.18602	0.0:0.7476:0.0:0.2524	.	979	Q86WZ0	HEAT4_HUMAN	N	979;932	ENSP00000450444:D979N	ENSP00000335447:D932N	D	-	1	0	HEATR4	73015210	0.979000	0.34478	0.992000	0.48379	0.334000	0.28698	0.951000	0.29135	0.717000	0.32145	0.449000	0.29647	GAT	HEATR4	-	NULL		0.483	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73945457	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.996	T	T	73945457	C	T	73945457	3	4	13	1	0	0	0	0	1	0	0	0	7050	913	32	1	149	1	HEATR4	14	73945457	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7	73945457	33404083	598	2042	8	2								
HEATR4	399671	genome.wustl.edu	37	chr14	73974859	73974859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtcttctcactcagatagctCaggaggatataagactgttc	9	9	4	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:73974859C>T	ENST00000553558.1	-	9	2181	c.1860G>A	c.(1858-1860)ctG>ctA	p.L620L	HEATR4_ENST00000560393.1_Silent_p.L573L|HEATR4_ENST00000334988.2_Silent_p.L620L	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	620										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCAGATAGCTCAGGAGGATAT	0.448																																																	0													149	135	140					14																	73974859		2203	4300	6503	SO:0001819	synonymous_variant	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1860G>A	14.37:g.73974859C>T			B7Z7V9|E9KL41	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L620	ENST00000553558.1	37	c.1860	CCDS9815.2	14																																																																																			HEATR4	-	superfamily_ARM-type_fold		0.448	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73974859	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	silent	SNP	0.999	T	T	73974859	C	T	73974859	2	4	13	1	0	0	0	0	0	0	0	1	7050	813	29	1		1	HEATR4	14	73974859	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	29402	73974859	33374681	599	2043										
YLPM1	56252	genome.wustl.edu	37	chr14	75248736	75248736	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cacagagctcgcaagttccaGagaaacctagaccagcactg	9	13	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:75248736G>A	ENST00000552421.1	+	4	2114	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	YLPM1_ENST00000325680.7_Missense_Mutation_p.E664K|YLPM1_ENST00000238571.3_Missense_Mutation_p.E469K			P49750	YLPM1_HUMAN	YLP motif containing 1	469					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCAAGTTCCAGAGAAACCTAG	0.537																																																	0													94	95	95					14																	75248736		2009	4182	6191	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1990G>A	14.37:g.75248736G>A	ENSP00000447921:p.Glu664Lys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.E664K	ENST00000552421.1	37	c.1990		14	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706969	0.48412	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.93	5.93	0.95920	.	0.244508	0.36101	N	0.002787	T	0.31009	0.0783	N	0.24115	0.695	0.34062	D	0.657438	P	0.35272	0.493	B	0.31101	0.124	T	0.45614	-0.9249	9	0.34782	T	0.22	-5.481	10.6427	0.45602	0.0694:0.1329:0.7976:0.0	.	664	P49750-4	.	K	664;664;469;377	.	ENSP00000238571:E469K	E	+	1	0	YLPM1	74318489	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.891000	0.56227	2.818000	0.97014	0.591000	0.81541	GAG	YLPM1	-	NULL		0.537	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75248736	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75248736	G	A	75248736	3	1	13	1	0	0	0	0	1	0	0	0	17517	943	33	1	2004	1	YLPM1	14	75248736	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1273877	75248736	32100804	600	2044										
EIF2B2	8892	genome.wustl.edu	37	chr14	75469825	75469825	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	accctagggttgctgcgccaGatcatcacggaccaccgctg	11	15	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:75469825G>C	ENST00000266126.5	+	1	212	c.132G>C	c.(130-132)caG>caC	p.Q44H	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	44					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGCTGCGCCAGATCATCACGG	0.657																																																	0													27	29	28					14																	75469825		2203	4300	6503	SO:0001583	missense	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.132G>C	14.37:g.75469825G>C	ENSP00000266126:p.Gln44His		O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.Q44H	ENST00000266126.5	37	c.132	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335331	0.41398	.	.	ENSG00000119718	ENST00000266126	D	0.92545	-3.06	5.86	0.399	0.16325	.	0.156294	0.56097	N	0.000038	D	0.83390	0.5244	N	0.16098	0.37	0.24917	N	0.992007	B	0.02656	0.0	B	0.06405	0.002	T	0.68372	-0.5426	10	0.34782	T	0.22	-6.9571	14.6282	0.68638	0.0619:0.6076:0.3305:0.0	.	44	P49770	EI2BB_HUMAN	H	44	ENSP00000266126:Q44H	ENSP00000266126:Q44H	Q	+	3	2	EIF2B2	74539578	1.000000	0.71417	0.989000	0.46669	0.820000	0.46376	0.550000	0.23345	-0.122000	0.11766	-0.145000	0.13849	CAG	EIF2B2	-	pfam_IF-2B-related		0.657	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	G	NM_014239		75469825	1	no_errors	ENST00000266126	ensembl	human	known	70_37	missense	SNP	0.997	C	C	75469825	G	C	75469825	3	2	13	1	0	0	0	0	1	0	0	0	5011	933	33	1	134	1	EIF2B2	14	75469825	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	221089	75469825	31879715	601	2045										
TMEM63C	57156	genome.wustl.edu	37	chr14	77686352	77686352	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccttccctggctggcagcctGacctcgctgatctatgggga	12	14	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:77686352G>C	ENST00000298351.4	+	5	378	c.234G>C	c.(232-234)ctG>ctC	p.L78L	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	78					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTGGCAGCCTGACCTCGCTGA	0.612																																																	0													36	38	37					14																	77686352		1999	4143	6142	SO:0001819	synonymous_variant	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.234G>C	14.37:g.77686352G>C			B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	pfam_DUF221	p.L78	ENST00000298351.4	37	c.234	CCDS45141.1	14																																																																																			TMEM63C	-	NULL		0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	G			77686352	1	no_errors	ENST00000298351	ensembl	human	known	70_37	silent	SNP	1.000	C	C	77686352	G	C	77686352	2	2	13	1	0	0	0	0	0	0	0	1	16222	1277	45	1		1	TMEM63C	14	77686352	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2216527	77686352	29663188	602	2046										
PTPN21	11099	genome.wustl.edu	37	chr14	88945915	88945915	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcggcggtgaggggctcgctGacctcctgcagcgagtgcgc	18	13	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:88945915G>T	ENST00000556564.1	-	13	2144	c.1860C>A	c.(1858-1860)gtC>gtA	p.V620V	PTPN21_ENST00000328736.3_Silent_p.V620V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	620					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGGCTCGCTGACCTCCTGCA	0.701																																																	0													20	21	20					14																	88945915		2194	4284	6478	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1860C>A	14.37:g.88945915G>T				Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.V620	ENST00000556564.1	37	c.1860	CCDS9884.1	14																																																																																			PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.701	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	G			88945915	-1	no_errors	ENST00000328736	ensembl	human	known	70_37	silent	SNP	0.981	T	T	88945915	G	T	88945915	2	4	13	1	0	0	0	0	0	0	0	1	12816	1277	45	3		3	PTPN21	14	88945915	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	11259563	88945915	18403625	603	2047										
TTC8	123016	genome.wustl.edu	37	chr14	89343652	89343652	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgcagattggagatctgcaGagaagctatgttgctgcgca	13	7	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:89343652G>C	ENST00000345383.5	+	14	1500	c.1416G>C	c.(1414-1416)caG>caC	p.Q472H	TTC8_ENST00000346301.4_Missense_Mutation_p.Q442H|TTC8_ENST00000380656.2_Missense_Mutation_p.Q482H|TTC8_ENST00000338104.6_Missense_Mutation_p.Q498H|TTC8_ENST00000354441.6_Missense_Mutation_p.Q217H|TTC8_ENST00000358622.5_Missense_Mutation_p.Q284H|TTC8_ENST00000536576.1_Missense_Mutation_p.Q243H	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	508					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAGATCTGCAGAGAAGCTATG	0.358																																																	0													60	54	56					14																	89343652		2203	4300	6503	SO:0001583	missense	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1416G>C	14.37:g.89343652G>C	ENSP00000339486:p.Gln472His		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q498H	ENST00000345383.5	37	c.1494	CCDS9885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.441807|2.441807	0.43326|0.43326	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.53640|.	0.71;0.61;0.71;0.71;0.61;0.71;0.71|.	5.4|5.4	4.51|4.51	0.55191|0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61123|0.61123	0.2322|0.2322	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999996|0.999996	B;B;D;B;B|.	0.67145|.	0.074;0.021;0.996;0.036;0.016|.	B;B;D;B;B|.	0.75484|.	0.034;0.019;0.986;0.043;0.029|.	T|T	0.58696|0.58696	-0.7591|-0.7591	10|5	0.41790|.	T|.	0.15|.	-12.8935|-12.8935	14.5743|14.5743	0.68235|0.68235	0.0708:0.0:0.9292:0.0|0.0708:0.0:0.9292:0.0	.|.	217;243;508;452;482|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	H|T	472;243;442;498;217;482;284|404	ENSP00000339486:Q472H;ENSP00000445067:Q243H;ENSP00000298324:Q442H;ENSP00000337653:Q498H;ENSP00000346427:Q217H;ENSP00000370031:Q482H;ENSP00000351439:Q284H|.	ENSP00000337653:Q498H|.	Q|R	+|+	3|2	2|0	TTC8|TTC8	88413405|88413405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	5.999000|5.999000	0.70665|0.70665	1.416000|1.416000	0.47057|0.47057	0.460000|0.460000	0.39030|0.39030	CAG|AGA	TTC8	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.358	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	G	NM_144596		89343652	1	no_errors	ENST00000338104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89343652	G	C	89343652	3	2	13	1	0	0	0	0	1	0	0	0	16745	933	33	1	1504	1	TTC8	14	89343652	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	397737	89343652	18005888	604	2048										
TDP1	55775	genome.wustl.edu	37	chr14	90429835	90429835	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caatgacggcactgcccaaaGaactgaaaatcatggcgctc	9	12	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:90429835G>C	ENST00000335725.4	+	3	627	c.377G>C	c.(376-378)aGa>aCa	p.R126T	TDP1_ENST00000393452.3_Missense_Mutation_p.R126T|TDP1_ENST00000555880.1_Missense_Mutation_p.R126T|TDP1_ENST00000393454.2_Missense_Mutation_p.R126T|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	126					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACTGCCCAAAGAACTGAAAAT	0.527								Repair of DNA-protein crosslinks																																									0													51	50	51					14																	90429835		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.377G>C	14.37:g.90429835G>C	ENSP00000337353:p.Arg126Thr		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.R126T	ENST00000335725.4	37	c.377	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603879	0.28534	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;2.2;1.7;2.02;1.7;1.61;1.61;1.61;1.79;1.47	5.36	-2.38	0.06622	.	0.494159	0.24652	N	0.036720	T	0.15219	0.0367	L	0.40543	1.245	0.09310	N	0.999996	B;B;B;B	0.16802	0.001;0.001;0.019;0.0	B;B;B;B	0.15052	0.002;0.001;0.012;0.0	T	0.19582	-1.0301	10	0.14252	T	0.57	-3.7641	1.7378	0.02945	0.4381:0.1027:0.2506:0.2086	.	126;126;126;126	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	T	126;126;126;27;126;126;126;126;126;126	ENSP00000377098:R126T;ENSP00000450872:R126T;ENSP00000377099:R126T;ENSP00000450708:R27T;ENSP00000337353:R126T;ENSP00000452279:R126T;ENSP00000451358:R126T;ENSP00000452333:R126T;ENSP00000452183:R126T;ENSP00000450628:R126T	ENSP00000337353:R126T	R	+	2	0	TDP1	89499588	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.477000	0.22196	-0.435000	0.07264	0.561000	0.74099	AGA	TDP1	-	NULL		0.527	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	G	NM_018319		90429835	1	no_errors	ENST00000335725	ensembl	human	known	70_37	missense	SNP	0.000	C	C	90429835	G	C	90429835	3	2	13	1	0	0	0	0	1	0	0	0	15758	942	33	1	379	1	TDP1	14	90429835	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1086183	90429835	16919705	605	2049										
TDP1	55775	genome.wustl.edu	37	chr14	90429933	90429933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggacatttgggacatgctgGataaagggaaccccttccag	12	9	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:90429933G>C	ENST00000335725.4	+	3	725	c.475G>C	c.(475-477)Gat>Cat	p.D159H	TDP1_ENST00000393452.3_Missense_Mutation_p.D159H|TDP1_ENST00000555880.1_Missense_Mutation_p.D159H|TDP1_ENST00000393454.2_Missense_Mutation_p.D159H|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	159					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGACATGCTGGATAAAGGGAA	0.517								Repair of DNA-protein crosslinks																																									0													63	59	60					14																	90429933		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.475G>C	14.37:g.90429933G>C	ENSP00000337353:p.Asp159His		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.D159H	ENST00000335725.4	37	c.475	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392302	0.25118	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.67;1.57	5.36	1.45	0.22620	.	1.058070	0.07230	N	0.862309	T	0.30665	0.0772	L	0.51422	1.61	0.33608	D	0.603209	P;P;P;B	0.48503	0.664;0.533;0.911;0.156	B;B;P;B	0.45474	0.107;0.05;0.482;0.031	T	0.37753	-0.9692	10	0.45353	T	0.12	-14.2336	4.7173	0.12901	0.3613:0.2794:0.3593:0.0	.	159;159;159;159	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	H	159;159;159;60;159;159;159	ENSP00000377098:D159H;ENSP00000450872:D159H;ENSP00000377099:D159H;ENSP00000450708:D60H;ENSP00000337353:D159H;ENSP00000452183:D159H;ENSP00000450628:D159H	ENSP00000337353:D159H	D	+	1	0	TDP1	89499686	0.817000	0.29147	0.057000	0.19452	0.982000	0.71751	0.699000	0.25586	-0.005000	0.14395	0.561000	0.74099	GAT	TDP1	-	NULL		0.517	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	G	NM_018319		90429933	1	no_errors	ENST00000335725	ensembl	human	known	70_37	missense	SNP	0.114	C	C	90429933	G	C	90429933	3	2	13	1	0	0	0	0	1	0	0	0	15758	1174	41	1	477	1	TDP1	14	90429933	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	98	90429933	16919607	606	2050										
CALM1	801	genome.wustl.edu	37	chr14	90870268	90870268	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctagaaaaatgaaagatacaGatagtgaagaagaaatccgt	9	4	0	7			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:90870268G>A	ENST00000356978.4	+	4	489	c.241G>A	c.(241-243)Gat>Aat	p.D81N	CALM1_ENST00000544280.2_Missense_Mutation_p.D45N|CALM1_ENST00000553542.1_Missense_Mutation_p.D45N|CALM1_ENST00000447653.3_Missense_Mutation_p.D82N|RP11-471B22.2_ENST00000555853.1_RNA	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	81	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GAAAGATACAGATAGTGAAGA	0.388																																																	0													107	98	101					14																	90870268		2203	4300	6503	SO:0001583	missense	801				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.241G>A	14.37:g.90870268G>A	ENSP00000349467:p.Asp81Asn		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.D81N	ENST00000356978.4	37	c.241	CCDS9892.1	14	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489877	0.64074	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	.	.	.	0.80722	D	1	B;B	0.15719	0.009;0.014	B;B	0.16722	0.012;0.016	T	0.79722	-0.1684	9	0.87932	D	0	.	19.1394	0.93441	0.0:0.0:1.0:0.0	.	82;81	E7ETZ0;P62158	.;CALM_HUMAN	N	45;81;82;45;45	ENSP00000451062:D45N;ENSP00000349467:D81N;ENSP00000403491:D82N;ENSP00000450829:D45N;ENSP00000442853:D45N	ENSP00000349467:D81N	D	+	1	0	CALM1	89940021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.736000	0.98828	2.583000	0.87209	0.555000	0.69702	GAT	CALM1	-	pfam_EF-hand_Ca_insen,pfscan_EF_HAND_2		0.388	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	G			90870268	1	no_errors	ENST00000356978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90870268	G	A	90870268	3	1	13	1	0	0	0	0	1	0	0	0	2589	942	33	1	255	1	CALM1	14	90870268	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	440335	90870268	16479272	607	2051										
TTC7B	145567	genome.wustl.edu	37	chr14	91119233	91119233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtaggacctcctgcatccctCgcaaagaagctaagaaaagg	10	11	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:91119233C>T	ENST00000328459.6	-	13	1590	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	TTC7B_ENST00000357056.2_Missense_Mutation_p.R490Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	490										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTGCATCCCTCGCAAAGAAGC	0.443																																																	0													142	139	140					14																	91119233		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1469G>A	14.37:g.91119233C>T	ENSP00000336127:p.Arg490Gln		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R490Q	ENST00000328459.6	37	c.1469	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180664	0.78677	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.77750	-1.12;-1.12	5.22	5.22	0.72569	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.072799	0.56097	D	0.000022	D	0.84511	0.5488	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.79926	-0.1597	10	0.14656	T	0.56	-0.356	18.7957	0.91993	0.0:1.0:0.0:0.0	.	490	Q86TV6	TTC7B_HUMAN	Q	388;490;490;232	ENSP00000349564:R490Q;ENSP00000336127:R490Q	ENSP00000336127:R490Q	R	-	2	0	TTC7B	90188986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.562000	0.82300	2.435000	0.82474	0.655000	0.94253	CGA	TTC7B	-	pfscan_TPR-contain_dom		0.443	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	C			91119233	-1	no_errors	ENST00000357056	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91119233	C	T	91119233	3	4	13	1	0	0	0	0	1	0	0	0	16744	884	31	1	1094	1	TTC7B	14	91119233	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	248965	91119233	16230307	608	2052										
SERPINA3	12	genome.wustl.edu	37	chr14	95081252	95081252	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggttcacggaggatgccaaGaggctgtatggctccgaggc	16	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:95081252G>C	ENST00000467132.1	+	2	1622	c.474G>C	c.(472-474)aaG>aaC	p.K158N	SERPINA3_ENST00000393078.3_Missense_Mutation_p.K158N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K158N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	158					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGATGCCAAGAGGCTGTATG	0.517																																																	0													75	69	71					14																	95081252		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.474G>C	14.37:g.95081252G>C	ENSP00000450540:p.Lys158Asn		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K183N	ENST00000467132.1	37	c.549	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732633	0.48939	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.13	0.902	0.19290	Serpin domain (3);	2.232540	0.02321	N	0.073000	D	0.89413	0.6708	M	0.63208	1.945	0.09310	N	1	P;P	0.52061	0.95;0.489	P;B	0.62298	0.9;0.213	T	0.71427	-0.4596	10	0.87932	D	0	.	3.7649	0.08619	0.3059:0.3912:0.3029:0.0	.	158;183	P01011;G3V5I3	AACT_HUMAN;.	N	183;158;158;158;158	ENSP00000452367:K183N;ENSP00000376793:K158N;ENSP00000376795:K158N;ENSP00000450540:K158N	ENSP00000376793:K158N	K	+	3	2	SERPINA3	94151005	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.688000	0.25422	0.625000	0.30304	0.561000	0.74099	AAG	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	G	NM_001085		95081252	1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	C	C	95081252	G	C	95081252	3	2	13	1	0	0	0	0	1	0	0	0	14120	933	33	1	476	1	SERPINA3	14	95081252	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3962019	95081252	12268288	609	2053										
C14orf49	161176	genome.wustl.edu	37	chr14	95916270	95916270	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggcaggaccacggttacctCgatctggggcaggaaggtgt	16	9	1	0	rs201231576	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:95916270C>A	ENST00000334258.5	-	7	1461	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	SYNE3_ENST00000554873.1_Nonsense_Mutation_p.E240*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.E483*|SYNE3_ENST00000557275.1_Nonsense_Mutation_p.E483*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	483					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						ACGGTTACCTCGATCTGGGGC	0.662																																																	0													26	26	26					14																	95916270		2166	4235	6401	SO:0001587	stop_gained	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1447G>T	14.37:g.95916270C>A	ENSP00000334308:p.Glu483*		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E483*	ENST00000334258.5	37	c.1447	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	41	8.773721	0.98948	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	.	.	.	5.17	4.25	0.50352	.	0.000000	0.42682	D	0.000675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-28.0853	12.6477	0.56744	0.0:0.8329:0.1671:0.0	.	.	.	.	X	483;240;483;483	.	ENSP00000334308:E483X	E	-	1	0	C14orf49	94986023	0.995000	0.38212	0.998000	0.56505	0.868000	0.49771	1.651000	0.37302	1.103000	0.41568	0.591000	0.81541	GAG	SYNE3	-	NULL		0.662	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95916270	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	95916270	C	A	95916270	4	1	13	1	0	0	0	0	0	1	0	0	1780	893	31	3	1524	3	C14orf49	14	95916270	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	835018	95916270	11433270	610	2054										
ATG2B	55102	genome.wustl.edu	37	chr14	96792229	96792229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atttgcaggactatgtgaatCatctagaaacacttcagtga	8	7	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:96792229C>G	ENST00000359933.4	-	15	3087	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	732					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATGTGAATCATCTAGAAAC	0.353																																																	0													85	77	79					14																	96792229		1930	4119	6049	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2194G>C	14.37:g.96792229C>G	ENSP00000353010:p.Asp732His		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.D732H	ENST00000359933.4	37	c.2194	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619513	0.87460	.	.	ENSG00000066739	ENST00000359933	T	0.11277	2.79	5.6	5.6	0.85130	.	0.000000	0.37219	U	0.002183	T	0.33731	0.0873	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01330	-1.1383	10	0.72032	D	0.01	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	732	Q96BY7	ATG2B_HUMAN	H	732	ENSP00000353010:D732H	ENSP00000353010:D732H	D	-	1	0	ATG2B	95861982	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.270000	0.78493	2.652000	0.90054	0.563000	0.77884	GAT	ATG2B	-	NULL		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96792229	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96792229	C	G	96792229	3	3	13	1	0	0	0	0	1	0	0	0	1095	826	29	1	4154	1	ATG2B	14	96792229	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	875959	96792229	10557311	611	2055										
HSP90AA1	3320	genome.wustl.edu	37	chr14	102552357	102552357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attccagtatccacaatagtGagagttcgatcttgtttgtt	8	7	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:102552357G>A	ENST00000216281.8	-	3	472	c.267C>T	c.(265-267)ctC>ctT	p.L89L	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.L211L	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	89					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CCACAATAGTGAGAGTTCGAT	0.428																																																	0													92	91	91					14																	102552357		2203	4300	6503	SO:0001819	synonymous_variant	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.267C>T	14.37:g.102552357G>A			A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.L211	ENST00000216281.8	37	c.633	CCDS9967.1	14																																																																																			HSP90AA1	-	pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N		0.428	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	G	NM_005348		102552357	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	silent	SNP	0.984	A	A	102552357	G	A	102552357	2	1	13	1	0	0	0	0	0	0	0	1	7421	1277	45	1		1	HSP90AA1	14	102552357	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5760128	102552357	4797183	612	2056										
TECPR2	9895	genome.wustl.edu	37	chr14	102918826	102918826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccacggtgcagctgcctcccGaagccgagatgcgcgcctat	12	16	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:102918826G>A	ENST00000359520.7	+	16	3728	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E1168K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1168					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGCCTCCCGAAGCCGAGAT	0.677																																																	0													32	31	31					14																	102918826		2203	4299	6502	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3502G>A	14.37:g.102918826G>A	ENSP00000352510:p.Glu1168Lys		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.E1168K	ENST00000359520.7	37	c.3502	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983610	0.53827	.	.	ENSG00000196663	ENST00000359520	T	0.14144	2.53	5.87	5.87	0.94306	.	0.217568	0.46145	D	0.000314	T	0.12774	0.0310	N	0.19112	0.55	0.32609	N	0.524824	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.06935	-1.0799	10	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	351;1168;1168	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	K	1168	ENSP00000352510:E1168K	ENSP00000352510:E1168K	E	+	1	0	TECPR2	101988579	1.000000	0.71417	0.257000	0.24404	0.056000	0.15407	9.147000	0.94646	2.779000	0.95612	0.655000	0.94253	GAA	TECPR2	-	superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR		0.677	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	G	NM_014844		102918826	1	no_errors	ENST00000359520	ensembl	human	known	70_37	missense	SNP	0.993	A	A	102918826	G	A	102918826	3	1	13	1	0	0	0	0	1	0	0	0	15774	1059	37	1	3560	1	TECPR2	14	102918826	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	366469	102918826	4430714	613	2057										
CDC42BPB	9578	genome.wustl.edu	37	chr14	103470289	103470289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggttctcgtcctgaaaggcGtagtgcagcgcggtgatcca	14	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:103470289G>A	ENST00000361246.2	-	4	711	c.423C>T	c.(421-423)taC>taT	p.Y141Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTGAAAGGCGTAGTGCAGCG	0.572																																																	0													99	74	83					14																	103470289		2203	4300	6503	SO:0001819	synonymous_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.423C>T	14.37:g.103470289G>A				Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.Y141	ENST00000361246.2	37	c.423	CCDS9978.1	14																																																																																			CDC42BPB	-	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		0.572	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103470289	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	silent	SNP	0.972	A	A	103470289	G	A	103470289	2	1	13	1	0	0	0	0	0	0	0	1	3078	1140	40	2		2	CDC42BPB	14	103470289	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	551463	103470289	3879251	614	2058										
UBE3A	7337	genome.wustl.edu	37	chr15	25616135	25616135	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctggactcagggatgggctCttcatcatcttcttcattgt	10	10	7	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:25616135C>G	ENST00000397954.2	-	4	1194	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	UBE3A_ENST00000566215.1_Missense_Mutation_p.E376Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.E376Q|UBE3A_ENST00000232165.3_Missense_Mutation_p.E396Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.E376Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	399	Asp/Glu-rich (acidic).				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGGATGGGCTCTTCATCATCT	0.463																																																	0													73	72	72					15																	25616135		2203	4299	6502	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1195G>C	15.37:g.25616135C>G	ENSP00000381045:p.Glu399Gln		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.E399Q	ENST00000397954.2	37	c.1195	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515193	0.44763	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	L	0.40543	1.245	0.80722	D	1	D;P	0.63880	0.993;0.457	P;B	0.60886	0.88;0.135	T	0.73824	-0.3861	10	0.20046	T	0.44	.	19.5696	0.95406	0.0:1.0:0.0:0.0	.	396;399	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	396;396;399;376;376	ENSP00000232165:E396Q;ENSP00000381045:E399Q;ENSP00000411258:E376Q;ENSP00000401265:E376Q	ENSP00000232165:E396Q	E	-	1	0	UBE3A	23167228	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.638000	0.89438	0.467000	0.42956	GAG	UBE3A	-	pirsf_Ubiquitin-protein_ligase_E6-AP		0.463	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	C	NM_000462		25616135	-1	no_errors	ENST00000397954	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25616135	C	G	25616135	3	3	13	1	0	0	0	0	1	0	0	0	16910	922	32	1	1464	1	UBE3A	15	25616135	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		25616135	76915257	615	2059										
TRPM1	4308	genome.wustl.edu	37	chr15	31324907	31324907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctaaccatctttccaatcatCatcacgtatggccccagata	4	14	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:31324907C>T	ENST00000256552.6	-	22	3084	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.M957I|TRPM1_ENST00000542188.1_Missense_Mutation_p.M996I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.M957I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAATCATCATCACGTATG	0.488																																																	1	Substitution - Missense(1)	breast(1)											112	106	108					15																	31324907		1988	4181	6169	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2937G>A	15.37:g.31324907C>T	ENSP00000256552:p.Met979Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.M996I	ENST00000256552.6	37	c.2988	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776123	0.90195	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74947	-0.89;-0.89;-0.89	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	N	0.10837	0.055	0.58432	D	0.999999	P;B	0.41929	0.765;0.27	B;B	0.40825	0.341;0.18	T	0.70680	-0.4805	10	0.87932	D	0	-41.7833	19.6018	0.95566	0.0:1.0:0.0:0.0	.	951;957	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	957;996;979;957	ENSP00000380897:M957I;ENSP00000437849:M996I;ENSP00000256552:M979I	ENSP00000256552:M979I	M	-	3	0	TRPM1	29112199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.704000	0.92352	0.643000	0.83706	ATG	TRPM1	-	pfam_Ion_trans_dom		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31324907	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31324907	C	T	31324907	3	4	13	1	0	0	0	0	1	0	0	0	16616	826	29	1	1968	1	TRPM1	15	31324907	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5708772	31324907	71206485	616	2060										
FMN1	342184	genome.wustl.edu	37	chr15	33359498	33359498	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcacagagctctgcaccattCatttccccagtgacagtatt	7	13	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:33359498C>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.M196I|FMN1_ENST00000334528.9_Missense_Mutation_p.M196I			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGCACCATTCATTTCCCCAG	0.512																																																	0													49	49	49					15																	33359498		1928	4140	6068	SO:0001627	intron_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2223G>T	15.37:g.33359498C>A			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.M196I	ENST00000559047.1	37	c.588		15	.	.	.	.	.	.	.	.	.	.	C	3.163	-0.171721	0.06421	.	.	ENSG00000248905	ENST00000334528	T	0.37584	1.19	5.23	2.13	0.27403	.	.	.	.	.	T	0.23965	0.0580	.	.	.	.	.	.	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.18429	-1.0337	7	0.49607	T	0.09	.	4.1202	0.10101	0.1651:0.4957:0.0:0.3392	.	196;196	Q68DA7-3;Q68DA7-5	.;.	I	196	ENSP00000333950:M196I	ENSP00000333950:M196I	M	-	3	0	FMN1	31146790	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.415000	0.21181	0.265000	0.21872	-0.150000	0.13652	ATG	FMN1	-	NULL		0.512	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	C	NM_001103184		33359498	-1	no_errors	ENST00000334528	ensembl	human	known	70_37	missense	SNP	0.000	A	A	33359498	C	A	33359498	1	1	13	0	1	0	0	0	0	0	0	0	5967	826	29	3		3	FMN1	15	33359498	Intron	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2034591	33359498	69171894	617	2061										
CASC5	57082	genome.wustl.edu	37	chr15	40933224	40933224	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcgtcgccaaaagattgaaGagtatgaaagctttaatttt	8	6	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:40933224G>C	ENST00000346991.5	+	15	6265	c.5875G>C	c.(5875-5877)Gaa>Caa	p.E1959Q	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Splice_Site_p.E1933Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1959	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGATTGAAGAGTATGAAAG	0.383																																																	0													112	105	107					15																	40933224		1822	4076	5898	SO:0001630	splice_region_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5876+1G>C	15.37:g.40933224G>C			Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.E1959Q	ENST00000346991.5	37	c.5875	CCDS42023.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.075377|4.075377	0.76415|0.76415	.|.	.|.	ENSG00000137812|ENSG00000137812	ENST00000346991;ENST00000399668|ENST00000532406	T;T|.	0.06218|.	3.33;3.33|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.216295|.	0.39341|.	N|.	0.001398|.	T|T	0.57844|0.57844	0.2081|0.2081	M|M	0.62723|0.62723	1.935|1.935	0.28737|0.28737	N|N	0.902198|0.902198	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.54833|0.54833	-0.8234|-0.8234	10|5	0.59425|.	D|.	0.04|.	.|.	15.2983|15.2983	0.73928|0.73928	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1933;1959|.	Q8NG31-2;Q8NG31|.	.;CASC5_HUMAN|.	Q|N	1959;1933|106	ENSP00000335463:E1959Q;ENSP00000382576:E1933Q|.	ENSP00000335463:E1959Q|.	E|K	+|+	1|3	0|2	CASC5|CASC5	38720516|38720516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.733000|2.733000	0.47360|0.47360	2.449000|2.449000	0.82847|0.82847	0.454000|0.454000	0.30748|0.30748	GAA|AAG	CASC5	-	NULL		0.383	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	G	NM_144508	Missense_Mutation	40933224	1	no_errors	ENST00000346991	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40933224	G	C	40933224	5	2	13	1	0	0	0	0	0	0	1	0	2668	956	33	1	5929	1	CASC5	15	40933224	Splice_Site	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7573726	40933224	61598168	618	2062										
LTK	4058	genome.wustl.edu	37	chr15	41801322	41801322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttgtcagtctctgaagcgtCgccccctggaagtggagagt	14	10	2	2	rs145538913		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:41801322C>T	ENST00000263800.6	-	8	1099	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	LTK_ENST00000561619.1_Missense_Mutation_p.D17N|LTK_ENST00000453182.2_Missense_Mutation_p.D274N|LTK_ENST00000355166.5_Missense_Mutation_p.D274N	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	335					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCTGAAGCGTCGCCCCCTGGA	0.562										TSP Lung(18;0.14)																																							0								C	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	74	71	72		820,1003,820	3.9	0.2	15	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	23,23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	274/735,335/865,274/804	41801322	1,13005	2203	4300	6503	SO:0001583	missense	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1003G>A	15.37:g.41801322C>T	ENSP00000263800:p.Asp335Asn		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D335N	ENST00000263800.6	37	c.1003	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698338	0.15106	2.27E-4	0.0	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.81415	-1.03;-1.49;-0.96	4.81	3.87	0.44632	.	0.000000	0.34603	U	0.003830	T	0.64627	0.2615	L	0.28649	0.875	0.21147	N	0.99977	D;P;D;P	0.55800	0.973;0.897;0.966;0.542	P;B;B;B	0.46320	0.512;0.255;0.378;0.111	T	0.61148	-0.7121	10	0.02654	T	1	.	3.4915	0.07639	0.1782:0.5587:0.172:0.0911	.	274;274;274;335	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	N	335;274;335;274	ENSP00000347293:D274N;ENSP00000263800:D335N;ENSP00000392196:D274N	ENSP00000263800:D335N	D	-	1	0	LTK	39588614	0.850000	0.29656	0.159000	0.22649	0.691000	0.40173	1.452000	0.35156	1.186000	0.42985	0.491000	0.48974	GAC	LTK	-	NULL		0.562	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	C			41801322	-1	no_errors	ENST00000263800	ensembl	human	known	70_37	missense	SNP	0.968	T	T	41801322	C	T	41801322	3	4	13	1	0	0	0	0	1	0	0	0	9103	884	31	1	1643	1	LTK	15	41801322	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	868098	41801322	60730070	619	2063										
MGA	23269	genome.wustl.edu	37	chr15	41961629	41961629	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagtatctttctataaactCaaacttaccaacaatacact	1	12	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:41961629C>G	ENST00000570161.1	+	1	537	c.537C>G	c.(535-537)ctC>ctG	p.L179L	MGA_ENST00000545763.1_Silent_p.L179L|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Silent_p.L179L|MGA_ENST00000389936.4_Silent_p.L179L|MGA_ENST00000566586.1_Silent_p.L179L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTATAAACTCAAACTTACCA	0.448																																																	0													230	228	229					15																	41961629		1940	4139	6079	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.537C>G	15.37:g.41961629C>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L179	ENST00000570161.1	37	c.537	CCDS55959.1	15																																																																																			MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41961629	1	no_errors	ENST00000219905	ensembl	human	known	70_37	silent	SNP	0.990	G	G	41961629	C	G	41961629	2	3	13	1	0	0	0	0	0	0	0	1	9563	813	29	1		1	MGA	15	41961629	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	160307	41961629	60569763	620	2064										
TMEM87A	25963	genome.wustl.edu	37	chr15	42553440	42553440	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtcgatgcataaaatctccaGaaaaggtctataaaagaaac	7	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42553440G>A	ENST00000389834.4	-	5	677	c.413C>T	c.(412-414)tCt>tTt	p.S138F	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S77F|TMEM87A_ENST00000307216.6_Missense_Mutation_p.S138F|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	138						integral component of membrane (GO:0016021)		p.S138F(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AAAATCTCCAGAAAAGGTCTA	0.318																																																	2	Substitution - Missense(2)	lung(2)											35	36	35					15																	42553440		2198	4298	6496	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.413C>T	15.37:g.42553440G>A	ENSP00000374484:p.Ser138Phe		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S138F	ENST00000389834.4	37	c.413	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512510	0.64522	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	4.64	4.64	0.57946	.	0.218240	0.39687	N	0.001299	T	0.43478	0.1249	N	0.24115	0.695	0.30223	N	0.79659	B;B;D	0.76494	0.146;0.261;0.999	B;B;D	0.83275	0.023;0.046;0.996	T	0.20207	-1.0282	9	0.02654	T	1	-11.046	13.1824	0.59662	0.0:0.0:1.0:0.0	.	138;77;138	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	F	138;77;114;138	.	ENSP00000305894:S138F	S	-	2	0	TMEM87A	40340732	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.815000	0.48018	2.578000	0.87016	0.467000	0.42956	TCT	TMEM87A	-	NULL		0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	G	NM_015497		42553440	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42553440	G	A	42553440	3	1	13	1	0	0	0	0	1	0	0	0	16240	942	33	1	1364	1	TMEM87A	15	42553440	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	591811	42553440	59977952	621	2065										
TMEM87A	25963	genome.wustl.edu	37	chr15	42556300	42556300	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagattacctgtgttttaaaGagttcactgcagttctggaa	9	6	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42556300G>C	ENST00000389834.4	-	4	657	c.393C>G	c.(391-393)ctC>ctG	p.L131L	TMEM87A_ENST00000448392.1_Silent_p.L70L|TMEM87A_ENST00000307216.6_Silent_p.L131L|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	131						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GTGTTTTAAAGAGTTCACTGC	0.333																																																	0													132	131	131					15																	42556300		2202	4297	6499	SO:0001819	synonymous_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.393C>G	15.37:g.42556300G>C			Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	pfam_TM_rcpt_euk	p.L131	ENST00000389834.4	37	c.393	CCDS32205.1	15																																																																																			TMEM87A	-	NULL		0.333	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	G	NM_015497		42556300	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	silent	SNP	1.000	C	C	42556300	G	C	42556300	2	2	13	1	0	0	0	0	0	0	0	1	16240	929	33	1		1	TMEM87A	15	42556300	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2860	42556300	59975092	622	2066										
HAUS2	55142	genome.wustl.edu	37	chr15	42858847	42858847	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atatattggtgactgagacaGaagaactggcagagaatata	11	4	0	5	rs552797368		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42858847G>A	ENST00000260372.3	+	6	604	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	HAUS2_ENST00000568876.1_Missense_Mutation_p.E150K|RP11-265N6.2_ENST00000561902.1_RNA|RP11-265N6.2_ENST00000567089.1_RNA	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	181					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						GACTGAGACAGAAGAACTGGC	0.338																																																	0													83	85	84					15																	42858847		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.541G>A	15.37:g.42858847G>A	ENSP00000260372:p.Glu181Lys		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E181K	ENST00000260372.3	37	c.541	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.306624	0.95629	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.49720	0.77	5.85	5.85	0.93711	.	0.054165	0.64402	D	0.000001	T	0.70666	0.3250	M	0.77103	2.36	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.73142	-0.4076	10	0.87932	D	0	.	17.0848	0.86608	0.0:0.0:1.0:0.0	.	150;181	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	K	181;150	ENSP00000260372:E181K	ENSP00000260372:E181K	E	+	1	0	HAUS2	40646139	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.621000	0.67743	2.775000	0.95449	0.655000	0.94253	GAA	HAUS2	-	NULL		0.338	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42858847	1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42858847	G	A	42858847	3	1	13	1	0	0	0	0	1	0	0	0	6986	943	33	1	563	1	HAUS2	15	42858847	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	302547	42858847	59672545	623	2067										
HAUS2	55142	genome.wustl.edu	37	chr15	42858892	42858892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtggcgtaaacaacaaaacGaagtttcgtcttgtatcccc	8	10	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42858892G>A	ENST00000260372.3	+	6	649	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	HAUS2_ENST00000568876.1_Missense_Mutation_p.E165K|RP11-265N6.2_ENST00000561902.1_RNA|RP11-265N6.2_ENST00000567089.1_RNA	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	196					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						ACAACAAAACGAAGTTTCGTC	0.343																																																	0													87	86	86					15																	42858892		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.586G>A	15.37:g.42858892G>A	ENSP00000260372:p.Glu196Lys		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E196K	ENST00000260372.3	37	c.586	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889164	0.52014	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.47869	0.83	6.05	6.05	0.98169	.	0.335624	0.29956	N	0.010776	T	0.45296	0.1335	M	0.72118	2.19	0.40274	D	0.978324	P;B	0.45283	0.855;0.219	B;B	0.29942	0.109;0.039	T	0.57093	-0.7870	10	0.59425	D	0.04	-0.0331	17.5254	0.87799	0.0:0.0:1.0:0.0	.	165;196	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	K	196;165	ENSP00000260372:E196K	ENSP00000260372:E196K	E	+	1	0	HAUS2	40646184	1.000000	0.71417	0.854000	0.33618	0.305000	0.27757	2.950000	0.49081	2.880000	0.98712	0.655000	0.94253	GAA	HAUS2	-	NULL		0.343	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42858892	1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	0.999	A	A	42858892	G	A	42858892	3	1	13	1	0	0	0	0	1	0	0	0	6986	1059	37	1	608	1	HAUS2	15	42858892	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	45	42858892	59672500	624	2068										
STRC	161497	genome.wustl.edu	37	chr15	43892273	43892273	+	Silent	SNP	G	G	C													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccacagcctgagcactggtGagactagatagttggatggg							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:43892273G>C	ENST00000450892.2	-	28	5201	c.5124C>G	c.(5122-5124)ctC>ctG	p.L1708L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L935L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1708					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GAGCACTGGTGAGACTAGATA	0.562																																																	0													103	87	93					15																	43892273		2199	4295	6494	SO:0001819	synonymous_variant	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.5124C>G	15.37:g.43892273G>C				Silent	SNP	NULL	p.L1708	ENST00000450892.2	37	c.5124	CCDS10098.1	15																																																																																			STRC	-	NULL		0.562	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		43892273	-1	no_errors	ENST00000450892	ensembl	human	known	70_37	silent	SNP	1.000	C	C	43892273	G	C	43892273	2	2	13	1	0	0	0	0	0	0	0	1	15358	1277	45	1		1	STRC	15	43892273	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1033381	43892273	58639119	625	2069	9	2								
STRC	161497	genome.wustl.edu	37	chr15	43892280	43892280	+	Missense_Mutation	SNP	G	G	C													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctgagcactggtgagactaGatagttggatgggactaaac							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:43892280G>C	ENST00000450892.2	-	28	5194	c.5117C>G	c.(5116-5118)tCt>tGt	p.S1706C	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.S933C	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1706					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTGAGACTAGATAGTTGGAT	0.572																																																	0													93	79	83					15																	43892280		2199	4295	6494	SO:0001583	missense	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.5117C>G	15.37:g.43892280G>C	ENSP00000401513:p.Ser1706Cys			Missense_Mutation	SNP	NULL	p.S1706C	ENST00000450892.2	37	c.5117	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918229	0.52546	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.79352	-1.26;-1.22	4.81	2.88	0.33553	.	0.152228	0.44902	D	0.000403	T	0.79299	0.4422	L	0.32530	0.975	0.36016	D	0.838435	D;B	0.76494	0.999;0.047	D;B	0.79108	0.992;0.032	T	0.81529	-0.0891	10	0.66056	D	0.02	-7.9442	8.2784	0.31885	0.0882:0.1581:0.7536:0.0	.	933;1706	F5GXA4;Q7RTU9	.;STRC_HUMAN	C	1706;1706;933	ENSP00000401513:S1706C;ENSP00000440413:S933C	ENSP00000299992:S1706C	S	-	2	0	STRC	41679572	0.796000	0.28864	0.992000	0.48379	0.962000	0.63368	1.924000	0.40065	0.715000	0.32103	0.491000	0.48974	TCT	STRC	-	NULL		0.572	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		43892280	-1	no_errors	ENST00000450892	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43892280	G	C	43892280	3	2	13	1	0	0	0	0	1	0	0	0	15358	942	33	1	218	1	STRC	15	43892280	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7	43892280	58639112	626	2070	9	2								
FRMD5	84978	genome.wustl.edu	37	chr15	44202144	44202144	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagaggagtcggccatggtaGagatcccttttgatctgcag	13	9	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:44202144G>C	ENST00000417257.1	-	5	539	c.363C>G	c.(361-363)ctC>ctG	p.L121L	FRMD5_ENST00000402883.1_Silent_p.L121L|FRMD5_ENST00000484674.1_Silent_p.L32L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGCCATGGTAGAGATCCCTTT	0.373											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													57	51	53					15																	44202144		2198	4298	6496	SO:0001819	synonymous_variant	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.363C>G	15.37:g.44202144G>C		922	Q8NBG4	Silent	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.L121	ENST00000417257.1	37	c.363	CCDS10107.2	15																																																																																			FRMD5	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.373	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	G	NM_032892		44202144	-1	no_errors	ENST00000417257	ensembl	human	known	70_37	silent	SNP	1.000	C	C	44202144	G	C	44202144	2	2	13	1	0	0	0	0	0	0	0	1	6071	929	33	1		1	FRMD5	15	44202144	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	309864	44202144	58329248	627	2071										
DUOX1	53905	genome.wustl.edu	37	chr15	45444103	45444103	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccagcccttgctgttcactGaggcgcaccgagagaagttc	11	13	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:45444103G>A	ENST00000321429.4	+	25	3453	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1016K|DUOX1_ENST00000561166.1_Missense_Mutation_p.E662K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1016	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTGTTCACTGAGGCGCACCG	0.597																																																	0													82	79	80					15																	45444103		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3046G>A	15.37:g.45444103G>A	ENSP00000317997:p.Glu1016Lys		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.E1016K	ENST00000321429.4	37	c.3046	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574480	0.45902	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85339	-1.97;-1.97	4.17	4.17	0.49024	.	0.306443	0.35525	N	0.003157	D	0.85461	0.5702	M	0.62723	1.935	0.41707	D	0.98943	B;B	0.30563	0.285;0.009	B;B	0.40134	0.32;0.012	D	0.83901	0.0290	10	0.33141	T	0.24	-29.578	14.3394	0.66614	0.0:0.0:1.0:0.0	.	149;1016	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	K	1016	ENSP00000317997:E1016K;ENSP00000373689:E1016K	ENSP00000317997:E1016K	E	+	1	0	DUOX1	43231395	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.188000	0.65093	2.302000	0.77476	0.655000	0.94253	GAG	DUOX1	-	NULL		0.597	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	G	NM_017434		45444103	1	no_errors	ENST00000321429	ensembl	human	known	70_37	missense	SNP	0.998	A	A	45444103	G	A	45444103	3	1	13	1	0	0	0	0	1	0	0	0	4810	1291	45	1	3136	1	DUOX1	15	45444103	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1241959	45444103	57087289	628	2072										
SLC27A2	11001	genome.wustl.edu	37	chr15	50528249	50528249	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatgtatgtgcctatgactGaggacatctataatgccata	8	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:50528249G>A	ENST00000267842.5	+	10	2051	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	SLC27A2_ENST00000544960.1_Missense_Mutation_p.E372K|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E554K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	607					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GCCTATGACTGAGGACATCTA	0.433																																																	0													161	144	150					15																	50528249		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1819G>A	15.37:g.50528249G>A	ENSP00000267842:p.Glu607Lys		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E607K	ENST00000267842.5	37	c.1819	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487224	0.26686	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;D	0.82526	0.38;0.24;-1.62	5.87	4.95	0.65309	.	0.458661	0.24441	N	0.038518	T	0.75347	0.3837	L	0.45422	1.42	0.41243	D	0.986657	B;B	0.22909	0.0;0.077	B;B	0.20184	0.004;0.028	T	0.69420	-0.5150	10	0.08179	T	0.78	-6.3752	14.6925	0.69096	0.0:0.4219:0.5781:0.0	.	554;607	Q6PF09;O14975	.;S27A2_HUMAN	K	554;607;372	ENSP00000370289:E554K;ENSP00000267842:E607K;ENSP00000444549:E372K	ENSP00000267842:E607K	E	+	1	0	SLC27A2	48315541	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.509000	0.45459	1.594000	0.50039	0.655000	0.94253	GAG	SLC27A2	-	NULL		0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	G	NM_003645		50528249	1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50528249	G	A	50528249	3	1	13	1	0	0	0	0	1	0	0	0	14556	1291	45	1	1857	1	SLC27A2	15	50528249	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5084146	50528249	52003143	629	2073										
KIAA1370	56204	genome.wustl.edu	37	chr15	52877050	52877050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtacagaaaaagttctttgtCgtaggaatgtctgatgattg	11	4	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:52877050C>T	ENST00000261844.7	-	12	3121	c.2969G>A	c.(2968-2970)cGa>cAa	p.R990Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.R997Q|RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	990																	AGTTCTTTGTCGTAGGAATGT	0.358																																																	0													134	129	130					15																	52877050		1862	4094	5956	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2969G>A	15.37:g.52877050C>T	ENSP00000261844:p.Arg990Gln		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.R990Q	ENST00000261844.7	37	c.2969	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.378783	0.95945	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.74209	-0.81;-0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90821	0.4709	10	0.87932	D	0	.	18.8547	0.92247	0.0:1.0:0.0:0.0	.	997;990	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	990;990;997	ENSP00000261844:R990Q;ENSP00000443598:R997Q	ENSP00000261844:R990Q	R	-	2	0	KIAA1370	50664342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.445000	0.80570	2.526000	0.85167	0.467000	0.42956	CGA	FAM214A	-	NULL		0.358	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52877050	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52877050	C	T	52877050	3	4	13	1	0	0	0	0	1	0	0	0	8246	884	31	1	269	1	KIAA1370	15	52877050	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2348801	52877050	49654342	630	2074										
ALDH1A2	8854	genome.wustl.edu	37	chr15	58287282	58287282	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggaaatacactcactgggatGatctgtccacacactccaat	7	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:58287282G>T	ENST00000249750.4	-	5	1316	c.549C>A	c.(547-549)atC>atA	p.I183I	ALDH1A2_ENST00000559517.1_Silent_p.I87I|ALDH1A2_ENST00000537372.1_Silent_p.I162I|ALDH1A2_ENST00000558231.1_Silent_p.I154I|ALDH1A2_ENST00000347587.3_Silent_p.I183I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	183					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCACTGGGATGATCTGTCCAC	0.403																																																	0													162	153	156					15																	58287282		2192	4292	6484	SO:0001819	synonymous_variant	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.549C>A	15.37:g.58287282G>T			B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I183	ENST00000249750.4	37	c.549	CCDS10163.1	15																																																																																			ALDH1A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.403	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	G			58287282	-1	no_errors	ENST00000249750	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58287282	G	T	58287282	2	4	13	1	0	0	0	0	0	0	0	1	491	1280	45	3		3	ALDH1A2	15	58287282	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5410232	58287282	44244110	631	2075										
SLTM	79811	genome.wustl.edu	37	chr15	59182658	59182658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctctctctgcaatctctcttCgtctaccaaaaatcagtatt	3	13	6	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:59182658C>T	ENST00000380516.2	-	15	1988	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	SLTM_ENST00000536328.1_Missense_Mutation_p.R203Q|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	634	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATCTCTCTTCGTCTACCAAA	0.403																																																	0													74	72	73					15																	59182658		2192	4291	6483	SO:0001583	missense	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1901G>A	15.37:g.59182658C>T	ENSP00000369887:p.Arg634Gln		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.R634Q	ENST00000380516.2	37	c.1901	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539927	0.65085	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.14022	2.54	5.86	5.86	0.93980	.	0.000000	0.45606	D	0.000349	T	0.21022	0.0506	L	0.27053	0.805	0.58432	D	0.99999	D;D	0.71674	0.998;0.997	P;P	0.55391	0.689;0.775	T	0.01301	-1.1391	10	0.23891	T	0.37	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	634;203	Q9NWH9;A8K5V8	SLTM_HUMAN;.	Q	634;200;203	ENSP00000369887:R634Q	ENSP00000369887:R634Q	R	-	2	0	SLTM	56969950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.384000	0.66225	2.777000	0.95525	0.655000	0.94253	CGA	SLTM	-	NULL		0.403	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	C	NM_024755		59182658	-1	no_errors	ENST00000380516	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59182658	C	T	59182658	3	4	13	1	0	0	0	0	1	0	0	0	14784	884	31	1	1231	1	SLTM	15	59182658	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	895376	59182658	43348734	632	2076										
IQCH	64799	genome.wustl.edu	37	chr15	67649712	67649712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctatacctcgggaaccacctCcatctccagcagaagtgaag	8	14	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:67649712C>T	ENST00000335894.4	+	7	733	c.667C>T	c.(667-669)Cca>Tca	p.P223S	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Missense_Mutation_p.P50S	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	223										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAACCACCTCCATCTCCAGC	0.398																																																	0													109	99	103					15																	67649712		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.667C>T	15.37:g.67649712C>T	ENSP00000336861:p.Pro223Ser		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.P223S	ENST00000335894.4	37	c.667	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	3.807	-0.040553	0.07497	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.45276	0.9;0.9	4.65	0.581	0.17407	.	3.060280	0.00805	N	0.001450	T	0.24812	0.0602	N	0.17082	0.46	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.008	B;B;B	0.12837	0.005;0.008;0.007	T	0.08868	-1.0701	10	0.12766	T	0.61	-9.3641	3.1206	0.06389	0.2168:0.4768:0.0:0.3064	.	50;223;50	F8WAL8;Q86VS3;Q86VS3-3	.;IQCH_HUMAN;.	S	50;223	ENSP00000351617:P50S;ENSP00000336861:P223S	ENSP00000336861:P223S	P	+	1	0	IQCH	65436766	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.069000	0.11542	0.121000	0.18284	0.655000	0.94253	CCA	IQCH	-	NULL		0.398	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	C	NM_022784		67649712	1	no_errors	ENST00000335894	ensembl	human	known	70_37	missense	SNP	0.000	T	T	67649712	C	T	67649712	3	4	13	1	0	0	0	0	1	0	0	0	7831	855	30	1	821	1	IQCH	15	67649712	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8467054	67649712	34881680	633	2077										
KIF23	9493	genome.wustl.edu	37	chr15	69728997	69728997	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagcagacacttccaaggctGattgaagccttagagaaacg	11	9	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:69728997G>A	ENST00000260363.4	+	14	1608	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	KIF23_ENST00000537891.1_Silent_p.L314L|KIF23_ENST00000352331.4_Silent_p.L497L|KIF23_ENST00000558585.1_Silent_p.L314L|KIF23_ENST00000395392.2_Silent_p.L497L|KIF23_ENST00000559279.1_Silent_p.L497L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	497					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCCAAGGCTGATTGAAGCCT	0.353																																																	0													93	80	84					15																	69728997		2199	4298	6497	SO:0001819	synonymous_variant	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1491G>A	15.37:g.69728997G>A			Q8WVP0	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L497	ENST00000260363.4	37	c.1491	CCDS32278.1	15																																																																																			KIF23	-	NULL		0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69728997	1	no_errors	ENST00000260363	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69728997	G	A	69728997	2	1	13	1	0	0	0	0	0	0	0	1	8311	1277	45	1		1	KIF23	15	69728997	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2079285	69728997	32802395	634	2078										
LRRC49	54839	genome.wustl.edu	37	chr15	71305151	71305151	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgtctcttcaggtgacacaGaatgatatgataatggctga	11	6	2	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:71305151G>C	ENST00000260382.5	+	14	1862	c.1602G>C	c.(1600-1602)caG>caC	p.Q534H	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q222H|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q524H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q240H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q539H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q490H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	534						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGGTGACACAGAATGATATGA	0.388																																																	0													147	135	139					15																	71305151		2199	4297	6496	SO:0001583	missense	54839				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1602G>C	15.37:g.71305151G>C	ENSP00000260382:p.Gln534His		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q534H	ENST00000260382.5	37	c.1602	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402714	0.42613	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.35236	1.32;1.32;1.32	5.47	2.4	0.29515	.	0.187919	0.46758	D	0.000266	T	0.40145	0.1105	L	0.57536	1.79	0.39649	D	0.97044	P;D;P;P;P	0.54397	0.898;0.966;0.938;0.898;0.944	B;P;P;P;P	0.51135	0.336;0.631;0.652;0.45;0.66	T	0.26916	-1.0089	10	0.66056	D	0.02	-3.9444	6.7546	0.23505	0.4384:0.0:0.5616:0.0	.	539;506;490;534;524	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	H	524;534;490;506	ENSP00000439600:Q524H;ENSP00000260382:Q534H;ENSP00000414065:Q490H	ENSP00000260382:Q534H	Q	+	3	2	LRRC49	69092205	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	1.990000	0.40717	0.197000	0.20387	0.555000	0.69702	CAG	LRRC49	-	NULL		0.388	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	G	NM_017691		71305151	1	no_errors	ENST00000260382	ensembl	human	known	70_37	missense	SNP	0.999	C	C	71305151	G	C	71305151	3	2	13	1	0	0	0	0	1	0	0	0	9029	933	33	1	1656	1	LRRC49	15	71305151	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1576154	71305151	31226241	635	2079										
CYP11A1	1583	genome.wustl.edu	37	chr15	74630959	74630959	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcagcgatccgccgtcccaGacactgccgcacaccccagc	8	21	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:74630959G>A	ENST00000268053.6	-	8	1541	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	CYP11A1_ENST00000419019.2_Silent_p.L305L|CYP11A1_ENST00000358632.4_Silent_p.L305L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	463					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CGCCGTCCCAGACACTGCCGC	0.562																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													150	132	138					15																	74630959		2198	4297	6495	SO:0001819	synonymous_variant	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1387C>T	15.37:g.74630959G>A			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L463	ENST00000268053.6	37	c.1387	CCDS32291.1	15																																																																																			CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.562	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	G			74630959	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	silent	SNP	0.034	A	A	74630959	G	A	74630959	2	1	13	1	0	0	0	0	0	0	0	1	4149	933	33	1		1	CYP11A1	15	74630959	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3325808	74630959	27900433	636	2080										
SNUPN	10073	genome.wustl.edu	37	chr15	75897509	75897509	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaggattaagcttggttttCtctcccagtccttcttcttc	6	12	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:75897509C>G	ENST00000564644.1	-	8	1238	c.660G>C	c.(658-660)gaG>gaC	p.E220D	SNUPN_ENST00000564675.1_Missense_Mutation_p.E220D|SNUPN_ENST00000308588.5_Missense_Mutation_p.E220D|SNUPN_ENST00000567134.1_Missense_Mutation_p.E220D|SNUPN_ENST00000371091.5_Missense_Mutation_p.E262D			O95149	SPN1_HUMAN	snurportin 1	220	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GCTTGGTTTTCTCTCCCAGTC	0.403																																																	0													161	150	154					15																	75897509		2197	4294	6491	SO:0001583	missense	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.660G>C	15.37:g.75897509C>G	ENSP00000454852:p.Glu220Asp		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.E262D	ENST00000564644.1	37	c.786	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	-	13.38	2.221396	0.39300	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.13	3.97	0.46021	.	0.051347	0.85682	D	0.000000	T	0.43853	0.1266	L	0.42008	1.315	0.50813	D	0.99989	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32666	-0.9898	9	0.25751	T	0.34	-34.1295	7.1695	0.25710	0.0:0.7086:0.1674:0.124	.	262;220	C9K0X5;O95149	.;SPN1_HUMAN	D	220;262	.	ENSP00000309831:E220D	E	-	3	2	SNUPN	73684564	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	2.567000	0.86603	0.531000	0.56144	GAG	SNUPN	-	pirsf_Snurportin-1		0.403	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	C	NM_005701		75897509	-1	no_errors	ENST00000371091	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75897509	C	G	75897509	3	3	13	1	0	0	0	0	1	0	0	0	14907	912	32	1	434	1	SNUPN	15	75897509	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1266550	75897509	26633883	637	2081										
SNUPN	10073	genome.wustl.edu	37	chr15	75897569	75897569	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagtagaatcggaaatcagtCtgccacagagaagggaaaca	11	8	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:75897569C>G	ENST00000564644.1	-	8	1179		c.e8-1		SNUPN_ENST00000564675.1_Splice_Site|SNUPN_ENST00000308588.5_Splice_Site|SNUPN_ENST00000567134.1_Splice_Site|SNUPN_ENST00000371091.5_Splice_Site			O95149	SPN1_HUMAN	snurportin 1						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGAAATCAGTCTGCCACAGAG	0.363																																																	0													107	101	103					15																	75897569		2197	4294	6491	SO:0001630	splice_region_variant	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.601-1G>C	15.37:g.75897569C>G			A6NE34|A8K0B0|D3DW76	Splice_Site	SNP	-	e7-1	ENST00000564644.1	37	c.727-1	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	-	14.71	2.618104	0.46736	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5802	0.45250	0.0:0.8042:0.1958:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNUPN	73684624	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.939000	0.75911	2.425000	0.82216	0.531000	0.56144	.	SNUPN	-	-		0.363	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	C	NM_005701	Intron	75897569	-1	no_errors	ENST00000371091	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	75897569	C	G	75897569	5	3	13	1	0	0	0	0	0	0	1	0	14907	927	32	1	494	1	SNUPN	15	75897569	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	60	75897569	26633823	638	2082										
SGK269	79834	genome.wustl.edu	37	chr15	77473769	77473769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctctggagtttgtttcatttCctcttatctgaggggcagta	10	8	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:77473769C>T	ENST00000560626.2	-	4	975	c.500G>A	c.(499-501)gGa>gAa	p.G167E	PEAK1_ENST00000312493.4_Missense_Mutation_p.G167E|PEAK1_ENST00000558305.1_Missense_Mutation_p.G167E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	167					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTTTCATTTCCTCTTATCTG	0.388																																																	0													183	166	171					15																	77473769		1857	4087	5944	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.500G>A	15.37:g.77473769C>T	ENSP00000452796:p.Gly167Glu		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	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,pfscan_Prot_kinase_cat_dom	p.G167E	ENST00000560626.2	37	c.500	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	4.197	0.035233	0.08148	.	.	ENSG00000173517	ENST00000312493	T	0.69040	-0.37	5.69	0.344	0.16006	.	0.184683	0.20910	U	0.083499	T	0.39384	0.1076	N	0.12182	0.205	0.29017	N	0.886537	B	0.06786	0.001	B	0.06405	0.002	T	0.12604	-1.0541	10	0.30078	T	0.28	-7.2568	3.8597	0.08990	0.1149:0.584:0.1113:0.1898	.	167	Q9H792	PEAK1_HUMAN	E	167	ENSP00000309230:G167E	ENSP00000309230:G167E	G	-	2	0	AC087465.1	75260824	0.985000	0.35326	0.581000	0.28614	0.817000	0.46193	0.624000	0.24462	0.047000	0.15862	-0.145000	0.13849	GGA	PEAK1	-	NULL		0.388	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77473769	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	0.754	T	T	77473769	C	T	77473769	3	4	13	1	0	0	0	0	1	0	0	0	14241	855	30	1	4756	1	SGK269	15	77473769	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1576200	77473769	25057623	639	2083										
HMG20A	10363	genome.wustl.edu	37	chr15	77771569	77771569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cattgactcatatatgaacaGactgcacagtattattttag	6	7	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:77771569G>C	ENST00000381714.3	+	10	1384	c.956G>C	c.(955-957)aGa>aCa	p.R319T	HMG20A_ENST00000336216.4_Missense_Mutation_p.R319T	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	319					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TATATGAACAGACTGCACAGT	0.403																																																	0													148	149	149					15																	77771569		2196	4294	6490	SO:0001583	missense	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.956G>C	15.37:g.77771569G>C	ENSP00000371133:p.Arg319Thr		A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R319T	ENST00000381714.3	37	c.956	CCDS10295.1	15	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868293	0.72065	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.68903	-0.36;-0.36	6.04	6.04	0.98038	.	0.041567	0.85682	D	0.000000	T	0.74176	0.3682	M	0.65975	2.015	0.49915	D	0.999831	P	0.47910	0.902	P	0.47626	0.552	T	0.75733	-0.3214	10	0.66056	D	0.02	-14.0776	20.5948	0.99439	0.0:0.0:1.0:0.0	.	319	Q9NP66	HM20A_HUMAN	T	319	ENSP00000336856:R319T;ENSP00000371133:R319T	ENSP00000336856:R319T	R	+	2	0	HMG20A	75558624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.943000	0.75934	2.873000	0.98535	0.563000	0.77884	AGA	HMG20A	-	NULL		0.403	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	G	NM_018200		77771569	1	no_errors	ENST00000336216	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77771569	G	C	77771569	3	2	13	1	0	0	0	0	1	0	0	0	7241	942	33	1	986	1	HMG20A	15	77771569	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	297800	77771569	24759823	640	2084										
TMC3	342125	genome.wustl.edu	37	chr15	81625474	81625474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtccacggtgaggagggttGatttgctgaaagtcttttcg	15	6	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:81625474G>A	ENST00000359440.5	-	22	2724	c.2589C>T	c.(2587-2589)atC>atT	p.I863I	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.I864I|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGGAGGGTTGATTTGCTGAA	0.502																																																	0													142	139	140					15																	81625474		1962	4164	6126	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2589C>T	15.37:g.81625474G>A				Silent	SNP	pfam_TMC	p.I863	ENST00000359440.5	37	c.2589	CCDS45324.1	15																																																																																			TMC3	-	NULL		0.502	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	G	NM_181841		81625474	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	silent	SNP	0.000	A	A	81625474	G	A	81625474	2	1	13	1	0	0	0	0	0	0	0	1	16016	1280	45	1		1	TMC3	15	81625474	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3853905	81625474	20905918	641	2085										
SEMA4B	10509	genome.wustl.edu	37	chr15	90744874	90744874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	catggggcgcgctgccgcctCggccaccgctgctgctgctc	14	18	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:90744874C>T	ENST00000411539.2	+	1	324	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	SEMA4B_ENST00000332496.6_Missense_Mutation_p.R22W|SEMA4B_ENST00000379122.3_Missense_Mutation_p.R17W	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	17					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCTGCCGCCTCGGCCACCgct	0.746																																																	0													2	2	2					15																	90744874		1339	2935	4274	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.64C>T	15.37:g.90744874C>T	ENSP00000394720:p.Arg22Trp		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.R22W	ENST00000411539.2	37	c.64	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986400	0.35036	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.22945	1.93;2.13;1.93	2.3	-1.32	0.09201	.	7.180680	0.01130	N	0.005977	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P;P	0.45396	0.857;0.857	B;B	0.19666	0.026;0.026	T	0.37314	-0.9711	10	0.37606	T	0.19	.	10.1497	0.42784	0.0:0.3076:0.6924:0.0	.	22;17	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	W	22;17;22	ENSP00000332204:R22W;ENSP00000368417:R17W;ENSP00000394720:R22W	ENSP00000332204:R22W	R	+	1	2	SEMA4B	88545878	0.159000	0.22864	0.000000	0.03702	0.001000	0.01503	-1.391000	0.02525	-0.292000	0.08999	0.557000	0.71058	CGG	SEMA4B	-	NULL		0.746	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90744874	1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	0.000	T	T	90744874	C	T	90744874	3	4	13	1	0	0	0	0	1	0	0	0	14062	875	31	1	66	1	SEMA4B	15	90744874	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9119400	90744874	11786518	642	2086										
PRC1	9055	genome.wustl.edu	37	chr15	91522427	91522427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctccaggtttcttcccacttCtggacaccttcaaagagttc	6	14	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:91522427C>G	ENST00000361188.5	-	8	2279	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.Q315H|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.Q356H|PRC1_ENST00000394249.3_Missense_Mutation_p.Q356H					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCCCACTTCTGGACACCTT	0.418																																																	0													110	112	111					15																	91522427		2198	4298	6496	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1068G>C	15.37:g.91522427C>G	ENSP00000354679:p.Gln356His			Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.Q356H	ENST00000361188.5	37	c.1068	CCDS45352.1	15	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955145	0.34471	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.55	1.36	0.22044	.	0.434279	0.28549	N	0.014942	T	0.18923	0.0454	N	0.25890	0.77	0.40070	D	0.976005	B;B;B;B	0.19583	0.03;0.03;0.002;0.037	B;B;B;B	0.19946	0.026;0.016;0.008;0.027	T	0.05632	-1.0873	10	0.42905	T	0.14	.	7.5142	0.27592	0.1214:0.3396:0.4724:0.0666	.	315;356;356;356	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	H	356;356;356;315	ENSP00000377793:Q356H;ENSP00000354618:Q356H;ENSP00000354679:Q356H;ENSP00000409549:Q315H	ENSP00000354679:Q356H	Q	-	3	2	PRC1	89323431	0.882000	0.30256	0.993000	0.49108	0.967000	0.64934	-0.109000	0.10840	0.096000	0.17463	0.655000	0.94253	CAG	PRC1	-	pfam_MAP65_Ase1_PRC1		0.418	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	HGNC	protein_coding	OTTHUMT00000414760.1	C	NM_003981		91522427	-1	no_errors	ENST00000394249	ensembl	human	known	70_37	missense	SNP	0.998	G	G	91522427	C	G	91522427	3	3	13	1	0	0	0	0	1	0	0	0	12473	912	32	1	826	1	PRC1	15	91522427	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	777553	91522427	11008965	643	2087										
SV2B	9899	genome.wustl.edu	37	chr15	91835670	91835670	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggaaacaccatctttgcttCttttgttgggataaccaaag	9	8	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:91835670C>T	ENST00000394232.1	+	13	2410	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	SV2B_ENST00000545111.2_Missense_Mutation_p.S496F|SV2B_ENST00000330276.4_Missense_Mutation_p.S647F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	647					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCTTTGCTTCTTTTGTTGGG	0.488																																																	0													153	141	145					15																	91835670		2198	4298	6496	SO:0001583	missense	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1940C>T	15.37:g.91835670C>T	ENSP00000377779:p.Ser647Phe		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.S647F	ENST00000394232.1	37	c.1940	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	.	34	5.329667	0.95733	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.55052	0.54;0.54;0.54	6.12	6.12	0.99158	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.148807	0.64402	D	0.000007	T	0.69486	0.3116	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60424	-0.7266	10	0.10111	T	0.7	-24.8671	19.4041	0.94641	0.0:1.0:0.0:0.0	.	647	Q7L1I2	SV2B_HUMAN	F	496;647;647	ENSP00000443243:S496F;ENSP00000377779:S647F;ENSP00000332818:S647F	ENSP00000332818:S647F	S	+	2	0	SV2B	89636674	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.588000	0.82629	2.932000	0.99384	0.644000	0.83932	TCT	SV2B	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.488	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	C	NM_014848		91835670	1	no_errors	ENST00000330276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91835670	C	T	91835670	3	4	13	1	0	0	0	0	1	0	0	0	15448	913	32	1	1986	1	SV2B	15	91835670	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	313243	91835670	10695722	644	2088										
OR4F6	390648	genome.wustl.edu	37	chr15	102346624	102346624	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatcttcaggtggtatattCaaggctttctctatgctgtc	8	8	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:102346624C>G	ENST00000328882.4	+	1	723	c.702C>G	c.(700-702)ttC>ttG	p.F234L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTGGTATATTCAAGGCTTTCT	0.348																																																	0													159	155	156					15																	102346624		2202	4300	6502	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.702C>G	15.37:g.102346624C>G	ENSP00000327525:p.Phe234Leu		B9EH28|Q6IF95	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F234L	ENST00000328882.4	37	c.702	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	3.923	-0.017802	0.07681	.	.	ENSG00000184140	ENST00000328882	T	0.00054	8.8	4.78	0.806	0.18708	GPCR, rhodopsin-like superfamily (1);	0.670173	0.13733	N	0.366542	T	0.00073	0.0002	N	0.02973	-0.45	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.17561	-1.0365	10	0.62326	D	0.03	.	4.3783	0.11281	0.4832:0.3627:0.0:0.154	.	234	Q8NGB9	OR4F6_HUMAN	L	234	ENSP00000327525:F234L	ENSP00000327525:F234L	F	+	3	2	OR4F6	100164147	0.120000	0.22244	0.173000	0.22940	0.058000	0.15608	0.482000	0.22276	0.066000	0.16515	-0.282000	0.10007	TTC	OR4F6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.348	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	HGNC	protein_coding	OTTHUMT00000417593.1	C			102346624	1	no_errors	ENST00000328882	ensembl	human	known	70_37	missense	SNP	0.001	G	G	102346624	C	G	102346624	3	3	13	1	0	0	0	0	1	0	0	0	11090	825	29	1	704	1	OR4F6	15	102346624	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	10510954	102346624	184768	645	2089										
MRPL28	10573	genome.wustl.edu	37	chr16	420123	420123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgggcgtccgctcctcctcCagggagcgcaggtagtggcc	16	14	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:420123C>T	ENST00000199706.8	-	2	131	c.96G>A	c.(94-96)ctG>ctA	p.L32L	MRPL28_ENST00000389675.2_Silent_p.L32L|MRPL28_ENST00000429738.1_5'Flank	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	32					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GCTCCTCCTCCAGGGAGCGCA	0.652																																																	0													45	42	43					16																	420123		2188	4292	6480	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.96G>A	16.37:g.420123C>T			B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	NULL	p.L32	ENST00000199706.8	37	c.96	CCDS32349.1	16																																																																																			MRPL28	-	NULL		0.652	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	HGNC	protein_coding	OTTHUMT00000139285.2	C			420123	-1	no_errors	ENST00000199706	ensembl	human	known	70_37	silent	SNP	0.161	T	T	420123	C	T	420123	2	4	13	1	0	0	0	0	0	0	0	1	9815	581	21	4		4	MRPL28	16	420123	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		420123	89934630	646	2090										
MRPL28	10573	genome.wustl.edu	37	chr16	420171	420171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgggaacagatgccctcccgCagctgcagccgcttccagag	12	16	0	2	rs139612920		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:420171C>T	ENST00000199706.8	-	2	83	c.48G>A	c.(46-48)ctG>ctA	p.L16L	MRPL28_ENST00000389675.2_Silent_p.L16L|MRPL28_ENST00000429738.1_5'Flank	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	16					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TGCCCTCCCGCAGCTGCAGCC	0.687																																																	0													16	17	17					16																	420171		2169	4277	6446	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.48G>A	16.37:g.420171C>T			B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	NULL	p.L16	ENST00000199706.8	37	c.48	CCDS32349.1	16																																																																																			MRPL28	-	NULL		0.687	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	HGNC	protein_coding	OTTHUMT00000139285.2	C			420171	-1	no_errors	ENST00000199706	ensembl	human	known	70_37	silent	SNP	0.999	T	T	420171	C	T	420171	2	4	13	1	0	0	0	0	0	0	0	1	9815	697	25	4		4	MRPL28	16	420171	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	48	420171	89934582	647	2091										
WDR90	197335	genome.wustl.edu	37	chr16	705684	705684	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaggcggtccccacccacaGaagcagaccttcagctcagg	10	17	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:705684G>A	ENST00000293879.4	+	16	1830	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.Q610Q			Q96KV7	WDR90_HUMAN	WD repeat domain 90	610										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCACCCACAGAAGCAGACCT	0.687																																																	0													16	20	18					16																	705684		2151	4246	6397	SO:0001819	synonymous_variant	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1830G>A	16.37:g.705684G>A			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q610	ENST00000293879.4	37	c.1830	CCDS42092.1	16																																																																																			WDR90	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat		0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		705684	1	no_errors	ENST00000549091	ensembl	human	novel	70_37	silent	SNP	0.920	A	A	705684	G	A	705684	2	1	13	1	0	0	0	0	0	0	0	1	17368	933	33	1		1	WDR90	16	705684	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	285513	705684	89649069	648	2092										
NDUFB10	4716	genome.wustl.edu	37	chr16	2009706	2009706	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccaatcccatcgtctacatGatgaaagcgttcgacctcat	6	14	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:2009706G>A	ENST00000268668.6	+	1	198	c.81G>A	c.(79-81)atG>atA	p.M27I	NDUFB10_ENST00000543683.2_Missense_Mutation_p.M27I|NDUFB10_ENST00000569148.1_Missense_Mutation_p.M27I|RPL3L_ENST00000566484.1_5'Flank|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	27					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						TCGTCTACATGATGAAAGCGT	0.692																																																	0													68	63	65					16																	2009706		2199	4300	6499	SO:0001583	missense	4716			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.81G>A	16.37:g.2009706G>A	ENSP00000268668:p.Met27Ile		Q96II6	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_su10	p.M27I	ENST00000268668.6	37	c.81	CCDS10451.1	16	.	.	.	.	.	.	.	.	.	.	G	2.986	-0.209277	0.06140	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	4.82	-1.32	0.09201	.	0.869339	0.10033	N	0.724535	T	0.11537	0.0281	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.32481	-0.9905	9	0.17369	T	0.5	-0.0572	5.4678	0.16652	0.0701:0.386:0.3315:0.2124	.	27;27	Q96II6;O96000	.;NDUBA_HUMAN	I	27	.	ENSP00000268668:M27I	M	+	3	0	NDUFB10	1949707	0.077000	0.21312	0.004000	0.12327	0.001000	0.01503	0.592000	0.23984	-0.188000	0.10499	-1.667000	0.00748	ATG	NDUFB10	-	NULL		0.692	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB10	HGNC	protein_coding	OTTHUMT00000250614.2	G	NM_004548		2009706	1	no_errors	ENST00000268668	ensembl	human	known	70_37	missense	SNP	0.000	A	A	2009706	G	A	2009706	3	1	13	1	0	0	0	0	1	0	0	0	10303	1290	45	1	83	1	NDUFB10	16	2009706	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1304022	2009706	88345047	649	2093										
TSC2	7249	genome.wustl.edu	37	chr16	2098751	2098751	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcatcaccgcggaaatactGagagtgagtgagctacctgt	11	9	2	3	rs137854117|rs137854360		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:2098751G>A	ENST00000219476.3	+	2	765	c.135G>A	c.(133-135)ctG>ctA	p.L45L	TSC2_ENST00000401874.2_Silent_p.L45L|NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000353929.4_Silent_p.L45L|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Silent_p.L56L|TSC2_ENST00000439673.2_Silent_p.L45L|TSC2_ENST00000350773.4_Silent_p.L45L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	45	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGAAATACTGAGAGTGAGTG	0.522			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													162	133	142					16																	2098751		2198	4299	6497	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.135G>A	16.37:g.2098751G>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L45	ENST00000219476.3	37	c.135	CCDS10458.1	16																																																																																			TSC2	-	superfamily_ARM-type_fold		0.522	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2098751	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2098751	G	A	2098751	2	1	13	1	0	0	0	0	0	0	0	1	16637	1277	45	1		1	TSC2	16	2098751	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	89045	2098751	88256002	650	2094										
PDXDC1	23042	genome.wustl.edu	37	chr16	15120537	15120537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctccccagtggtggtgttcaGatttttccaggaattaccag	10	10	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:15120537G>A	ENST00000396410.4	+	14	1275	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	PDXDC1_ENST00000535621.2_Missense_Mutation_p.R393K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R365K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R302K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R370K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R411K|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R378K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R366K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	393					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGTGTTCAGATTTTTCCAG	0.393																																																	0													106	115	112					16																	15120537		2197	4300	6497	SO:0001583	missense	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1178G>A	16.37:g.15120537G>A	ENSP00000379691:p.Arg393Lys		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R393K	ENST00000396410.4	37	c.1178	CCDS32393.1	16	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136727	0.37728	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.26	3.05	0.35203	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.148415	0.64402	D	0.000010	T	0.20901	0.0503	N	0.14661	0.345	0.41025	D	0.985113	B;B;B;B;B;B	0.13594	0.004;0.008;0.008;0.004;0.008;0.001	B;B;B;B;B;B	0.16289	0.004;0.015;0.004;0.004;0.009;0.004	T	0.05632	-1.0873	10	0.15066	T	0.55	-16.7748	6.7951	0.23721	0.3028:0.0:0.6972:0.0	.	365;302;393;365;393;370	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	K	378;302;393;393;365;99;370	ENSP00000322807:R378K;ENSP00000400310:R302K;ENSP00000437835:R393K;ENSP00000379691:R393K;ENSP00000391147:R365K;ENSP00000406703:R370K	ENSP00000322807:R378K	R	+	2	0	PDXDC1	15028038	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.721000	0.38032	1.187000	0.43000	0.561000	0.74099	AGA	PDXDC1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.393	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	HGNC	protein_coding	OTTHUMT00000389065.2	G	NM_015027		15120537	1	no_errors	ENST00000396410	ensembl	human	known	70_37	missense	SNP	0.999	A	A	15120537	G	A	15120537	3	1	13	1	0	0	0	0	1	0	0	0	11720	942	33	1	1232	1	PDXDC1	16	15120537	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	13021786	15120537	75234216	651	2095										
PDILT	204474	genome.wustl.edu	37	chr16	20371898	20371898	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttgccccttacctcatcctCatcctcaatcttagttttga	4	14	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:20371898C>T	ENST00000302451.4	-	11	1746	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	500					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCTCATCCTCATCCTCAATC	0.443																																																	0													245	221	229					16																	20371898		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1498G>A	16.37:g.20371898C>T	ENSP00000305465:p.Glu500Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E500K	ENST00000302451.4	37	c.1498	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688595	0.48097	.	.	ENSG00000169340	ENST00000302451	T	0.03242	4.0	4.58	3.63	0.41609	.	0.232512	0.43416	D	0.000568	T	0.02304	0.0071	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47407	-0.9120	10	0.11182	T	0.66	.	8.8645	0.35278	0.0:0.9001:0.0:0.0999	.	500	Q8N807	PDILT_HUMAN	K	500	ENSP00000305465:E500K	ENSP00000305465:E500K	E	-	1	0	PDILT	20279399	0.012000	0.17670	0.043000	0.18650	0.654000	0.38779	0.424000	0.21330	1.530000	0.49136	0.650000	0.86243	GAG	PDILT	-	NULL		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20371898	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.052	T	T	20371898	C	T	20371898	3	4	13	1	0	0	0	0	1	0	0	0	11698	835	29	1	264	1	PDILT	16	20371898	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5251361	20371898	69982855	652	2096										
DNAH3	55567	genome.wustl.edu	37	chr16	20975107	20975107	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaagagtagcttgtccttctCaaacagagaacggcacacgt	10	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:20975107C>G	ENST00000261383.3	-	53	10098	c.10099G>C	c.(10099-10101)Gag>Cag	p.E3367Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3367					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)|microtubule motor activity (GO:0003777)	p.E3367Q(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCCTTCTCAAACAGAGAA	0.493																																																	2	Substitution - Missense(2)	cervix(2)											133	105	114					16																	20975107		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10099G>C	16.37:g.20975107C>G	ENSP00000261383:p.Glu3367Gln		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3367Q	ENST00000261383.3	37	c.10099	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305280	0.81247	.	.	ENSG00000158486	ENST00000261383	T	0.68181	-0.31	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91913	0.5541	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3367	Q8TD57	DYH3_HUMAN	Q	3367	ENSP00000261383:E3367Q	ENSP00000261383:E3367Q	E	-	1	0	DNAH3	20882608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	GAG	DNAH3	-	NULL		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20975107	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20975107	C	G	20975107	3	3	13	1	0	0	0	0	1	0	0	0	4613	835	29	1	2290	1	DNAH3	16	20975107	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	603209	20975107	69379646	653	2097										
CDR2	1039	genome.wustl.edu	37	chr16	22361024	22361024	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agattctagaaaatttacctCagaatcttttgctgtgaggc	8	7	3	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:22361024C>T	ENST00000268383.2	-	3	646	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	113						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AAATTTACCTCAGAATCTTTT	0.408																																																	0													157	149	152					16																	22361024		2197	4300	6497	SO:0001819	synonymous_variant	1039			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.339G>A	16.37:g.22361024C>T			A8K8A8|Q13977	Silent	SNP	NULL	p.L113	ENST00000268383.2	37	c.339	CCDS32404.1	16																																																																																			CDR2	-	NULL		0.408	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	C			22361024	-1	no_errors	ENST00000268383	ensembl	human	known	70_37	silent	SNP	0.995	T	T	22361024	C	T	22361024	2	4	13	1	0	0	0	0	0	0	0	1	3177	813	29	1		1	CDR2	16	22361024	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1385917	22361024	67993729	654	2098										
PALB2	79728	genome.wustl.edu	37	chr16	23647106	23647106	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctgactactaccgctatctGatagagtctgtaaaggaact	9	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:23647106G>C	ENST00000261584.4	-	4	913	c.761C>G	c.(760-762)tCa>tGa	p.S254*		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	254	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACCGCTATCTGATAGAGTCTG	0.408			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													140	144	142					16																	23647106		2197	4300	6497	SO:0001587	stop_gained	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.761C>G	16.37:g.23647106G>C	ENSP00000261584:p.Ser254*		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S254*	ENST00000261584.4	37	c.761	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556104	0.65425	.	.	ENSG00000083093	ENST00000261584	.	.	.	5.66	-1.57	0.08506	.	1.256570	0.05410	N	0.542248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	3.3439	8.7304	0.34496	0.5881:0.0:0.4119:0.0	.	.	.	.	X	254	.	ENSP00000261584:S254X	S	-	2	0	PALB2	23554607	0.004000	0.15560	0.000000	0.03702	0.038000	0.13279	0.445000	0.21677	-0.060000	0.13132	0.655000	0.94253	TCA	PALB2	-	NULL		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	G	NM_024675		23647106	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	23647106	G	C	23647106	4	2	13	1	0	0	0	0	0	1	0	0	11430	1294	45	1	2839	1	PALB2	16	23647106	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1286082	23647106	66707647	655	2099										
SLC5A11	115584	genome.wustl.edu	37	chr16	24873933	24873933	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttttttcagtccacagtgaaGaccaaaagagacacagtgaa	8	8	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:24873933G>C	ENST00000347898.3	+	3	769	c.147G>C	c.(145-147)aaG>aaC	p.K49N	SLC5A11_ENST00000424767.2_Missense_Mutation_p.K49N|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.K49N|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000539472.1_5'UTR|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000545376.1_Missense_Mutation_p.K49N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.K49N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCACAGTGAAGACCAAAAGAG	0.473																																																	0													117	108	111					16																	24873933		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.147G>C	16.37:g.24873933G>C	ENSP00000289932:p.Lys49Asn			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.K49N	ENST00000347898.3	37	c.147	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688324	0.48097	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376	D;D;D	0.89123	-2.42;-2.47;-2.33	5.05	5.05	0.67936	.	0.321276	0.34460	N	0.003953	D	0.90885	0.7136	M	0.71206	2.165	0.80722	D	1	P;D;P	0.55800	0.846;0.973;0.868	B;P;B	0.52646	0.358;0.705;0.358	D	0.91611	0.5303	10	0.72032	D	0.01	.	11.7591	0.51892	0.0:0.1778:0.8222:0.0	.	49;49;49	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	N	49	ENSP00000289932:K49N;ENSP00000416782:K49N;ENSP00000441384:K49N	ENSP00000289932:K49N	K	+	3	2	SLC5A11	24781434	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.139000	0.50577	2.332000	0.79248	0.561000	0.74099	AAG	SLC5A11	-	pfscan_Na/solute_symporter		0.473	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	G	NM_052944		24873933	1	no_errors	ENST00000347898	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24873933	G	C	24873933	3	2	13	1	0	0	0	0	1	0	0	0	14693	933	33	1	153	1	SLC5A11	16	24873933	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1226827	24873933	65480820	656	2100										
ITGAL	3683	genome.wustl.edu	37	chr16	30490497	30490497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttccgccagaatctgcaggGtcccatgctgcaggggcgcc	13	15	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:30490497G>T	ENST00000356798.6	+	5	593	c.413G>T	c.(412-414)gGt>gTt	p.G138V	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_Missense_Mutation_p.G138V|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	138					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AATCTGCAGGGTCCCATGCTG	0.542																																					NSCLC(110;1462 1641 3311 33990 49495)												0													80	76	77					16																	30490497		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.413G>T	16.37:g.30490497G>T	ENSP00000349252:p.Gly138Val		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G138V	ENST00000356798.6	37	c.413	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749625	0.30955	.	.	ENSG00000005844	ENST00000356798;ENST00000454514	T;T	0.75154	-0.91;1.68	5.86	-3.57	0.04612	.	1.296290	0.05161	N	0.497713	T	0.66877	0.2834	L	0.34521	1.04	0.09310	N	0.999991	P	0.48503	0.911	P	0.48368	0.575	T	0.60419	-0.7267	10	0.48119	T	0.1	.	6.3264	0.21246	0.4901:0.0:0.3889:0.1211	.	138	P20701	ITAL_HUMAN	V	138	ENSP00000349252:G138V;ENSP00000408615:G138V	ENSP00000349252:G138V	G	+	2	0	ITGAL	30397998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.112000	0.15479	-0.922000	0.03789	-0.351000	0.07748	GGT	ITGAL	-	NULL		0.542	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	G			30490497	1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30490497	G	T	30490497	3	4	13	1	0	0	0	0	1	0	0	0	7906	1261	44	4	431	4	ITGAL	16	30490497	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5616564	30490497	59864256	657	2101										
SRCAP	10847	genome.wustl.edu	37	chr16	30732237	30732237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcccccgcttattcctgcatCtcggcctcctggccctgtcc	8	20	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:30732237C>T	ENST00000262518.4	+	20	3576	c.3191C>T	c.(3190-3192)tCt>tTt	p.S1064F	SRCAP_ENST00000344771.4_Missense_Mutation_p.S1064F|SRCAP_ENST00000395059.2_Missense_Mutation_p.S1064F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1064	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATTCCTGCATCTCGGCCTCCT	0.632																																																	0													56	54	55					16																	30732237		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3191C>T	16.37:g.30732237C>T	ENSP00000262518:p.Ser1064Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S1064F	ENST00000262518.4	37	c.3191	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638531	0.47153	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91464	-2.85;-2.78;-2.83	5.25	5.25	0.73442	.	0.000000	0.51477	D	0.000093	D	0.90490	0.7021	N	0.14661	0.345	0.33640	D	0.607179	D;D;D	0.69078	0.997;0.997;0.995	D;D;P	0.65010	0.931;0.931;0.854	D	0.93216	0.6604	10	0.62326	D	0.03	-15.3108	17.7693	0.88487	0.0:1.0:0.0:0.0	.	1064;1064;1064	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	F	1064	ENSP00000262518:S1064F;ENSP00000378499:S1064F;ENSP00000343042:S1064F	ENSP00000262518:S1064F	S	+	2	0	SRCAP	30639738	0.334000	0.24739	0.991000	0.47740	0.577000	0.36160	4.700000	0.61803	2.729000	0.93468	0.557000	0.71058	TCT	SRCAP	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30732237	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.999	T	T	30732237	C	T	30732237	3	4	13	1	0	0	0	0	1	0	0	0	15165	913	32	1	3261	1	SRCAP	16	30732237	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	241740	30732237	59622516	658	2102										
SRCAP	10847	genome.wustl.edu	37	chr16	30732630	30732630	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agccccacctccaggctcctCtagcctgttgaagcccctga	8	18	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:30732630C>G	ENST00000262518.4	+	21	3759	c.3374C>G	c.(3373-3375)tCt>tGt	p.S1125C	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.S1125C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1125	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S1125C(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGGCTCCTCTAGCCTGTTG	0.632																																																	1	Substitution - Missense(1)	breast(1)											99	102	101					16																	30732630		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3374C>G	16.37:g.30732630C>G	ENSP00000262518:p.Ser1125Cys		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S1125C	ENST00000262518.4	37	c.3374	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377818	0.42105	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91740	-2.9;-2.83	5.36	5.36	0.76844	.	.	.	.	.	D	0.91968	0.7456	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.962	D	0.93185	0.6578	9	0.72032	D	0.01	-2.834	16.1243	0.81382	0.0:1.0:0.0:0.0	.	1125;1125	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	1125	ENSP00000262518:S1125C;ENSP00000378499:S1125C	ENSP00000262518:S1125C	S	+	2	0	SRCAP	30640131	0.537000	0.26386	0.983000	0.44433	0.974000	0.67602	2.621000	0.46418	2.788000	0.95919	0.557000	0.71058	TCT	SRCAP	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30732630	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.999	G	G	30732630	C	G	30732630	3	3	13	1	0	0	0	0	1	0	0	0	15165	913	32	1	3448	1	SRCAP	16	30732630	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	393	30732630	59622123	659	2103										
ZNF668	79759	genome.wustl.edu	37	chr16	31075397	31075397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcgtgcgaggccaggtgcacGcgcaggcacacgggctgcat	17	13	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:31075397G>A	ENST00000538906.1	-	2	1168	c.384C>T	c.(382-384)cgC>cgT	p.R128R	ZNF668_ENST00000535577.1_Silent_p.R128R|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Silent_p.R151R|ZNF668_ENST00000539836.3_Silent_p.R151R|ZNF668_ENST00000394983.2_Silent_p.R128R|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000300849.4_Silent_p.R128R	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCAGGTGCACGCGCAGGCACA	0.716																																					Colon(181;1111 1980 5060 10512 25785)												0													23	22	22					16																	31075397		2195	4296	6491	SO:0001819	synonymous_variant	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.384C>T	16.37:g.31075397G>A			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R151	ENST00000538906.1	37	c.453	CCDS10701.1	16																																																																																			ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.716	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	G	NM_024706		31075397	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	silent	SNP	0.527	A	A	31075397	G	A	31075397	2	1	13	1	0	0	0	0	0	0	0	1	18105	1074	38	2		2	ZNF668	16	31075397	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	342767	31075397	59279356	660	2104										
ITFG1	81533	genome.wustl.edu	37	chr16	47195728	47195728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggaatgattgcagtccactCttgttttcgtatagactgga	10	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:47195728C>G	ENST00000320640.6	-	16	1822	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	ITFG1_ENST00000544001.2_Missense_Mutation_p.E419Q|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	532						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GCAGTCCACTCTTGTTTTCGT	0.328																																																	0													185	171	176					16																	47195728		2202	4300	6502	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1594G>C	16.37:g.47195728C>G	ENSP00000319918:p.Glu532Gln		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.E532Q	ENST00000320640.6	37	c.1594	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583791	0.86748	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	N	0.21097	0.63	0.80722	D	1	P;D	0.67145	0.627;0.996	B;P	0.62184	0.295;0.899	T	0.58323	-0.7656	10	0.14252	T	0.57	-24.94	19.5992	0.95552	0.0:1.0:0.0:0.0	.	419;532	F5GXC5;Q8TB96	.;TIP_HUMAN	Q	532;192;277;419	ENSP00000319918:E532Q;ENSP00000441062:E419Q	ENSP00000319918:E532Q	E	-	1	0	ITFG1	45753229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.270000	0.78493	2.640000	0.89533	0.467000	0.42956	GAG	ITFG1	-	NULL		0.328	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	C	NM_030790		47195728	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47195728	C	G	47195728	3	3	13	1	0	0	0	0	1	0	0	0	7889	922	32	1	256	1	ITFG1	16	47195728	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	16120331	47195728	43159025	661	2105										
ITFG1	81533	genome.wustl.edu	37	chr16	47487999	47487999	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atttttgggaagatatgtcaGaaggacatccatttgagaat	10	4	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:47487999G>A	ENST00000320640.6	-	3	580	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	ITFG1_ENST00000544001.2_Silent_p.L5L	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATATGTCAGAAGGACATCC	0.338																																																	0													118	116	117					16																	47487999		2201	4300	6501	SO:0001819	synonymous_variant	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.352C>T	16.37:g.47487999G>A			Q96SR4|Q9BRE2|Q9H2V9	Silent	SNP	NULL	p.L118	ENST00000320640.6	37	c.352	CCDS10728.1	16																																																																																			ITFG1	-	NULL		0.338	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	G	NM_030790		47487999	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	silent	SNP	0.459	A	A	47487999	G	A	47487999	2	1	13	1	0	0	0	0	0	0	0	1	7889	933	33	1		1	ITFG1	16	47487999	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	292271	47487999	42866754	662	2106										
CNGB1	1258	genome.wustl.edu	37	chr16	57949228	57949228	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatccaagggcaggaggctGagcaggtccatctgaaatcc	12	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:57949228G>C	ENST00000251102.8	-	23	2289	c.2229C>G	c.(2227-2229)ctC>ctG	p.L743L	CNGB1_ENST00000564448.1_Silent_p.L737L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	743					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAGGAGGCTGAGCAGGTCCA	0.587																																					Colon(156;1293 1853 16336 28962 38659)												0													45	47	46					16																	57949228		1967	4138	6105	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2229C>G	16.37:g.57949228G>C			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L743	ENST00000251102.8	37	c.2229	CCDS42169.1	16																																																																																			CNGB1	-	NULL		0.587	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	G	NM_001297		57949228	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	silent	SNP	0.992	C	C	57949228	G	C	57949228	2	2	13	1	0	0	0	0	0	0	0	1	3605	1277	45	1		1	CNGB1	16	57949228	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10461229	57949228	32405525	663	2107										
CDH8	1006	genome.wustl.edu	37	chr16	62055157	62055157	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttcaaaattcgctgttcttCacccagactgtttagttcca	6	11	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:62055157C>A	ENST00000577390.1	-	2	1105	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.E51*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E51*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.E51*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	51					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CGCTGTTCTTCACCCAGACTG	0.438																																																	0													76	77	77					16																	62055157		2203	4300	6503	SO:0001587	stop_gained	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.151G>T	16.37:g.62055157C>A	ENSP00000462701:p.Glu51*		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E51*	ENST00000577390.1	37	c.151	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	46	12.653160	0.99685	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.278016	0.39146	N	0.001454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000299345:E51X	E	-	1	0	CDH8	60612658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.692000	0.68256	2.941000	0.99782	0.655000	0.94253	GAA	CDH8	-	NULL		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	C	NM_001796		62055157	-1	no_errors	ENST00000577390	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	62055157	C	A	62055157	4	1	13	1	0	0	0	0	0	1	0	0	3121	835	29	3	2292	3	CDH8	16	62055157	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4105929	62055157	28299596	664	2108										
RLTPR	146206	genome.wustl.edu	37	chr16	67685860	67685860	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcacggggaccttggcagaGagcattgtggctcaggcttt	14	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:67685860G>C	ENST00000334583.6	+	26	2953	c.2625G>C	c.(2623-2625)gaG>gaC	p.E875D	RLTPR_ENST00000545661.1_Missense_Mutation_p.E839D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	875					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTTGGCAGAGAGCATTGTGG	0.602																																																	0													133	140	137					16																	67685860		2143	4246	6389	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2625G>C	16.37:g.67685860G>C	ENSP00000334958:p.Glu875Asp		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E875D	ENST00000334583.6	37	c.2625	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	3.404	-0.121693	0.06838	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.10005	2.92;2.93	4.85	-0.85	0.10720	.	0.245701	0.28847	N	0.013944	T	0.06600	0.0169	L	0.60455	1.87	0.36308	D	0.857469	B;P	0.38020	0.274;0.615	B;B	0.32211	0.056;0.142	T	0.43877	-0.9364	10	0.02654	T	1	-10.3727	6.2684	0.20941	0.176:0.4531:0.3709:0.0	.	839;875	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	D	875;839	ENSP00000334958:E875D;ENSP00000441481:E839D	ENSP00000334958:E875D	E	+	3	2	RLTPR	66243361	0.933000	0.31639	0.992000	0.48379	0.939000	0.58152	0.049000	0.14099	-0.258000	0.09446	-0.809000	0.03173	GAG	RLTPR	-	NULL		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67685860	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.994	C	C	67685860	G	C	67685860	3	2	13	1	0	0	0	0	1	0	0	0	13424	933	33	1	2727	1	RLTPR	16	67685860	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5630703	67685860	22668893	665	2109										
NFATC3	4775	genome.wustl.edu	37	chr16	68224764	68224764	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcagacccagaggccttcctCtgattcagggtgttcacatg	10	12	4	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:68224764C>G	ENST00000346183.3	+	9	2216	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	NFATC3_ENST00000575270.1_Missense_Mutation_p.S731C|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S731C|NFATC3_ENST00000349223.5_Missense_Mutation_p.S731C|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	731					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGGCCTTCCTCTGATTCAGGG	0.458																																																	0													100	87	92					16																	68224764		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2192C>G	16.37:g.68224764C>G	ENSP00000300659:p.Ser731Cys		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S731C	ENST00000346183.3	37	c.2192	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763353	0.49574	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.09445	2.99;2.99;2.98	5.55	5.55	0.83447	.	0.551757	0.20254	N	0.096005	T	0.19644	0.0472	L	0.47716	1.5	0.45962	D	0.998782	P;P;P;P	0.51791	0.948;0.947;0.948;0.948	B;P;B;B	0.52758	0.41;0.708;0.41;0.41	T	0.00179	-1.1950	10	0.40728	T	0.16	-5.7236	15.0406	0.71788	0.0:0.8583:0.1416:0.0	.	731;731;731;731	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	C	731;731;731;252	ENSP00000264008:S731C;ENSP00000300659:S731C;ENSP00000331324:S731C	ENSP00000331324:S731C	S	+	2	0	NFATC3	66782265	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	4.274000	0.58921	2.617000	0.88574	0.557000	0.71058	TCT	NFATC3	-	NULL		0.458	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68224764	1	no_errors	ENST00000346183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68224764	C	G	68224764	3	3	13	1	0	0	0	0	1	0	0	0	10388	913	32	1	2226	1	NFATC3	16	68224764	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	538904	68224764	22129989	666	2110										
TMCO7	79613	genome.wustl.edu	37	chr16	68877531	68877531	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cactccagtcatggcggcccGacaggccgtgggcagcgggg	17	14	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:68877531G>C	ENST00000261778.1	+	1	23	c.11G>C	c.(10-12)cGa>cCa	p.R4P		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	4						integral component of membrane (GO:0016021)											ATGGCGGCCCGACAGGCCGTG	0.667																																																	0													57	69	65					16																	68877531		1896	4117	6013	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.11G>C	16.37:g.68877531G>C	ENSP00000261778:p.Arg4Pro		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.R4P	ENST00000261778.1	37	c.11	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331117	0.24167	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.09	-0.647	0.11468	.	.	.	.	.	T	0.26085	0.0636	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20438	-1.0275	8	0.30854	T	0.27	2.9534	9.2588	0.37599	0.0:0.288:0.4816:0.2304	.	4	Q9C0B7	TMCO7_HUMAN	P	4	.	ENSP00000261778:R4P	R	+	2	0	TMCO7	67435032	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.603000	0.05674	-0.139000	0.11414	-0.277000	0.10078	CGA	TMCO7	-	NULL		0.667	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2		68877531	1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	0.000	C	C	68877531	G	C	68877531	3	2	13	1	0	0	0	0	1	0	0	0	16031	1058	37	1	13	1	TMCO7	16	68877531	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	652767	68877531	21477222	667	2111										
NFAT5	10725	genome.wustl.edu	37	chr16	69681236	69681236	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggggtgtggattggaatctGagcagagctgcagtatgtgg	18	4	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:69681236G>C	ENST00000354436.2	+	3	823	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	NFAT5_ENST00000393742.2_Missense_Mutation_p.E93Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E187Q|NFAT5_ENST00000566899.1_Missense_Mutation_p.E93Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E187Q|NFAT5_ENST00000349945.1_Missense_Mutation_p.E93Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	169					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGGAATCTGAGCAGAGCTG	0.507																																																	0													123	107	112					16																	69681236		2198	4300	6498	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.505G>C	16.37:g.69681236G>C	ENSP00000346420:p.Glu169Gln		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E187Q	ENST00000354436.2	37	c.559	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732756	0.69189	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.994	T	0.34428	-0.9829	10	0.66056	D	0.02	-2.6037	19.0353	0.92974	0.0:0.0:1.0:0.0	.	187;169;187	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	Q	187;187;93;169;93	ENSP00000396538:E187Q;ENSP00000338806:E93Q;ENSP00000346420:E169Q;ENSP00000377343:E93Q	ENSP00000338806:E93Q	E	+	1	0	NFAT5	68238737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.480000	0.83734	0.650000	0.86243	GAG	NFAT5	-	NULL		0.507	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	G	NM_138714		69681236	1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69681236	G	C	69681236	3	2	13	1	0	0	0	0	1	0	0	0	10384	1291	45	1	573	1	NFAT5	16	69681236	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	803705	69681236	20673517	668	2112										
ST3GAL2	6483	genome.wustl.edu	37	chr16	70415655	70415655	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgtcgatgatgtgggcctcGaagtccgcgtcgtgcacgcc	14	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:70415655G>A	ENST00000393640.4	-	6	3097	c.990C>T	c.(988-990)ttC>ttT	p.F330F	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.F330F			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	330					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TGTGGGCCTCGAAGTCCGCGT	0.662																																																	0													72	62	65					16																	70415655		2198	4300	6498	SO:0001819	synonymous_variant	6483			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.990C>T	16.37:g.70415655G>A			O00654	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.F330	ENST00000393640.4	37	c.990	CCDS10890.1	16																																																																																			ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.662	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1	G	NM_006927		70415655	-1	no_errors	ENST00000342907	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70415655	G	A	70415655	2	1	13	1	0	0	0	0	0	0	0	1	15245	1049	37	1		1	ST3GAL2	16	70415655	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	734419	70415655	19939098	669	2113										
TAT	6898	genome.wustl.edu	37	chr16	71606214	71606214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttgtttcaggtcaatttccCaagatttctctggctggaga	10	8	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:71606214C>A	ENST00000355962.4	-	6	714	c.581G>T	c.(580-582)tGg>tTg	p.W194L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	194					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GTCAATTTCCCAAGATTTCTC	0.398																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													107	104	105					16																	71606214		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.581G>T	16.37:g.71606214C>A	ENSP00000348234:p.Trp194Leu		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.W194L	ENST00000355962.4	37	c.581	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311805	0.60414	.	.	ENSG00000198650	ENST00000355962	D	0.88509	-2.39	6.17	6.17	0.99709	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96940	0.9687	10	0.87932	D	0	-16.6102	20.8794	0.99867	0.0:1.0:0.0:0.0	.	194	P17735	ATTY_HUMAN	L	194	ENSP00000348234:W194L	ENSP00000348234:W194L	W	-	2	0	TAT	70163715	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG	TAT	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.398	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	C			71606214	-1	no_errors	ENST00000355962	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71606214	C	A	71606214	3	1	13	1	0	0	0	0	1	0	0	0	15620	595	21	4	811	4	TAT	16	71606214	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1190559	71606214	18748539	670	2114										
ZFHX3	463	genome.wustl.edu	37	chr16	72984640	72984640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagcttgcactggtatgagtCccccatcaccgccttccact	8	16	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:72984640C>T	ENST00000268489.5	-	3	3616	c.2944G>A	c.(2944-2946)Gac>Aac	p.D982N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D68N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	982					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTATGAGTCCCCCATCACC	0.587																																																	0													139	120	126					16																	72984640		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2944G>A	16.37:g.72984640C>T	ENSP00000268489:p.Asp982Asn		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D982N	ENST00000268489.5	37	c.2944	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421169	0.83559	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.61510	0.1;0.1	5.22	5.22	0.72569	Zinc finger, U1-type (1);	0.000000	0.52532	D	0.000070	T	0.70064	0.3181	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68243	-0.5460	10	0.38643	T	0.18	.	18.7869	0.91959	0.0:1.0:0.0:0.0	.	982	Q15911	ZFHX3_HUMAN	N	982;68	ENSP00000268489:D982N;ENSP00000438926:D68N	ENSP00000268489:D982N	D	-	1	0	ZFHX3	71542141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.419000	0.82065	0.655000	0.94253	GAC	ZFHX3	-	smart_Znf_U1		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72984640	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72984640	C	T	72984640	3	4	13	1	0	0	0	0	1	0	0	0	17664	855	30	1	8199	1	ZFHX3	16	72984640	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1378426	72984640	17370113	671	2115										
GLG1	2734	genome.wustl.edu	37	chr16	74503973	74503973	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaaaatccttcatctgcaccTgaaaggtaaagagaaagaaa	8	7	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:74503973T>A	ENST00000422840.2	-	16	2229		c.e16-2		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CATCTGCACCTGAAAGGTAAA	0.408																																																	0													86	82	83					16																	74503973		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2230-2A>T	16.37:g.74503973T>A			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	-	e16-2	ENST00000422840.2	37	c.2230-2	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	T	28.9	4.961501	0.92791	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2671	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73061474	1.000000	0.71417	0.948000	0.38648	0.725000	0.41563	7.900000	0.87376	2.069000	0.61940	0.456000	0.33151	.	GLG1	-	-		0.408	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	T	NM_012201	Intron	74503973	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	74503973	T	A	74503973	5	1	13	1	0	0	0	0	0	0	1	0	6455	1594	55	5	1435	5	GLG1	16	74503973	Splice_Site	SNP	T	TCGA-C5-A1BQ-01C-11D-A20U-09	1519333	74503973	15850780	672	2116										
ADAMTS18	170692	genome.wustl.edu	37	chr16	77397746	77397746	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caccacaaccacgtttatgtCacttccaatagtcccatctt	3	15	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:77397746C>G	ENST00000282849.5	-	6	1427	c.1009G>C	c.(1009-1011)Gac>Cac	p.D337H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D337H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGTTTATGTCACTTCCAATA	0.378																																																	1	Substitution - Missense(1)	lung(1)											99	88	92					16																	77397746		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1009G>C	16.37:g.77397746C>G	ENSP00000282849:p.Asp337His		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D337H	ENST00000282849.5	37	c.1009	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946340	0.73672	.	.	ENSG00000140873	ENST00000282849	D	0.87334	-2.24	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	N	0.17764	0.52	0.58432	D	0.999998	D	0.55385	0.971	D	0.64595	0.927	D	0.83805	0.0238	10	0.17369	T	0.5	.	17.968	0.89105	0.0:1.0:0.0:0.0	.	337	Q8TE60	ATS18_HUMAN	H	337	ENSP00000282849:D337H	ENSP00000282849:D337H	D	-	1	0	ADAMTS18	75955247	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.569000	0.53827	2.708000	0.92522	0.650000	0.86243	GAC	ADAMTS18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.378	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	C			77397746	-1	no_errors	ENST00000282849	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77397746	C	G	77397746	3	3	13	1	0	0	0	0	1	0	0	0	263	826	29	1	2728	1	ADAMTS18	16	77397746	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2893773	77397746	12957007	673	2117										
WWOX	51741	genome.wustl.edu	37	chr16	78466405	78466405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atttacagatattaacgactCcttgggaaaactggacttca	7	8	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:78466405C>G	ENST00000566780.1	+	8	1178	c.812C>G	c.(811-813)tCc>tGc	p.S271C	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.S271C|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	271	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTAACGACTCCTTGGGAAAA	0.403																																																	0													111	114	113					16																	78466405		1899	4105	6004	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.812C>G	16.37:g.78466405C>G	ENSP00000457230:p.Ser271Cys		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.S271C	ENST00000566780.1	37	c.812	CCDS42196.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.216057|2.216057	0.39201|0.39201	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|T	.|0.22743	.|1.94	5.93|5.93	4.98|4.98	0.66077|0.66077	.|NAD(P)-binding domain (1);	.|0.081464	.|0.50627	.|D	.|0.000102	T|T	0.14356|0.14356	0.0347|0.0347	N|N	0.14661|0.14661	0.345|0.345	0.46222|0.46222	D|D	0.998932|0.998932	.|P	.|0.36027	.|0.533	.|B	.|0.38921	.|0.285	T|T	0.11591|0.11591	-1.0581|-1.0581	6|10	0.48119|0.37606	T|T	0.1|0.19	.|.	11.48|11.48	0.50320|0.50320	0.0:0.8068:0.1256:0.0676|0.0:0.8068:0.1256:0.0676	.|.	.|271	.|Q9NZC7	.|WWOX_HUMAN	A|C	114|271	.|ENSP00000386161:S271C	ENSP00000299644:P114A|ENSP00000386161:S271C	P|S	+|+	1|2	0|0	WWOX|WWOX	77023906|77023906	0.981000|0.981000	0.34729|0.34729	0.606000|0.606000	0.28943|0.28943	0.023000|0.023000	0.10783|0.10783	1.966000|1.966000	0.40481|0.40481	1.520000|1.520000	0.48965|0.48965	0.655000|0.655000	0.94253|0.94253	CCT|TCC	WWOX	-	NULL		0.403	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	C			78466405	1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78466405	C	G	78466405	3	3	13	1	0	0	0	0	1	0	0	0	17445	855	30	1	904	1	WWOX	16	78466405	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1068659	78466405	11888348	674	2118										
ATMIN	23300	genome.wustl.edu	37	chr16	81075907	81075907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actttatgaaaatgcatgctGagaagaagcacaaatgtagt	9	5	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:81075907G>C	ENST00000299575.4	+	3	508	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ATMIN_ENST00000566488.1_Missense_Mutation_p.E6Q|ATMIN_ENST00000539819.1_Intron|ATMIN_ENST00000564241.1_Missense_Mutation_p.E6Q	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	162					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGCATGCTGAGAAGAAGCA	0.443																																																	0													164	144	151					16																	81075907		2202	4300	6502	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.484G>C	16.37:g.81075907G>C	ENSP00000299575:p.Glu162Gln		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.E162Q	ENST00000299575.4	37	c.484	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.435764	0.96168	.	.	ENSG00000166454	ENST00000299575	T	0.03272	3.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00026	-1.2311	10	0.72032	D	0.01	-19.2225	20.054	0.97641	0.0:0.0:1.0:0.0	.	162	O43313	ATMIN_HUMAN	Q	162	ENSP00000299575:E162Q	ENSP00000299575:E162Q	E	+	1	0	ATMIN	79633408	1.000000	0.71417	0.987000	0.45799	0.895000	0.52256	9.751000	0.98889	2.808000	0.96608	0.655000	0.94253	GAG	ATMIN	-	NULL		0.443	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	G	NM_015251		81075907	1	no_errors	ENST00000299575	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81075907	G	C	81075907	3	2	13	1	0	0	0	0	1	0	0	0	1111	1291	45	1	494	1	ATMIN	16	81075907	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2609502	81075907	9278846	675	2119										
OSGIN1	29948	genome.wustl.edu	37	chr16	83999202	83999202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgagtaccacaaggtgcacCagatgatgcgggagcagtcc	13	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:83999202C>T	ENST00000343939.2	+	7	1656	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	OSGIN1_ENST00000393306.1_Nonsense_Mutation_p.Q342*|OSGIN1_ENST00000361711.3_Nonsense_Mutation_p.Q342*			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CAAGGTGCACCAGATGATGCG	0.637																																																	0													72	65	68					16																	83999202		2200	4300	6500	SO:0001587	stop_gained	29948			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1273C>T	16.37:g.83999202C>T	ENSP00000343376:p.Gln425*		Q52M33|Q86UQ1|Q96S88|Q9BZ70	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Q342*	ENST00000343939.2	37	c.1024		16	.	.	.	.	.	.	.	.	.	.	C	38	6.894851	0.97916	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-32.9331	16.8409	0.85968	0.0:1.0:0.0:0.0	.	.	.	.	X	425;342;342	.	ENSP00000343376:Q425X	Q	+	1	0	OSGIN1	82556703	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	3.531000	0.53546	2.211000	0.71520	0.467000	0.42956	CAG	OSGIN1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.637	OSGIN1-001	PUTATIVE	basic	protein_coding	OSGIN1	HGNC	protein_coding	OTTHUMT00000269081.1	C	NM_013370		83999202	1	no_errors	ENST00000361711	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	83999202	C	T	83999202	4	4	13	1	0	0	0	0	0	1	0	0	11313	595	21	4	1299	4	OSGIN1	16	83999202	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2923295	83999202	6355551	676	2120										
MBTPS1	8720	genome.wustl.edu	37	chr16	84099344	84099344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acgccatcttctggaaacttCgcgatgctgcaccctgacgc	9	15	2	1	rs149572196		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:84099344C>T	ENST00000343411.3	-	18	2877	c.2382G>A	c.(2380-2382)gcG>gcA	p.A794A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	794					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGGAAACTTCGCGATGCTGC	0.448																																																	0								C		0,4400		0,0,2200	135	114	121		2382	-11.3	0	16	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MBTPS1	NM_003791.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		794/1053	84099344	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2382G>A	16.37:g.84099344C>T			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.A794	ENST00000343411.3	37	c.2382	CCDS10941.1	16																																																																																			MBTPS1	-	NULL		0.448	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84099344	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	silent	SNP	0.054	T	T	84099344	C	T	84099344	2	4	13	1	0	0	0	0	0	0	0	1	9384	871	31	1		1	MBTPS1	16	84099344	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	100142	84099344	6255409	677	2121										
KLHL36	79786	genome.wustl.edu	37	chr16	84695382	84695382	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtgacagcatctactccatCgggggcagcgatgacaacat	12	11	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:84695382C>T	ENST00000564996.1	+	5	1635	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	KLHL36_ENST00000258157.5_Silent_p.I435I	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	498					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCTACTCCATCGGGGGCAGCG	0.682																																																	0													68	61	63					16																	84695382		2199	4300	6499	SO:0001819	synonymous_variant	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1494C>T	16.37:g.84695382C>T			Q8N5G6|Q9H9U6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I498	ENST00000564996.1	37	c.1494	CCDS10948.1	16																																																																																			KLHL36	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	C			84695382	1	no_errors	ENST00000564996	ensembl	human	known	70_37	silent	SNP	0.993	T	T	84695382	C	T	84695382	2	4	13	1	0	0	0	0	0	0	0	1	8409	874	31	1		1	KLHL36	16	84695382	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	596038	84695382	5659371	678	2122										
JPH3	57338	genome.wustl.edu	37	chr16	87723265	87723265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	catacagggctggagtaccaGaggccgaagcgtcagacctc	13	12	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:87723265G>C	ENST00000284262.2	+	4	1541	c.1299G>C	c.(1297-1299)caG>caC	p.Q433H	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	433					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGGAGTACCAGAGGCCGAAGC	0.672																																																	0													36	27	30					16																	87723265		2194	4299	6493	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1299G>C	16.37:g.87723265G>C	ENSP00000284262:p.Gln433His		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.Q433H	ENST00000284262.2	37	c.1299	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373671	0.61624	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51817	0.69	4.48	4.48	0.54585	.	0.137892	0.50627	D	0.000112	T	0.57961	0.2089	L	0.57536	1.79	0.58432	D	0.999996	D	0.61697	0.99	P	0.57776	0.827	T	0.61783	-0.6992	10	0.66056	D	0.02	.	11.7767	0.51989	0.0887:0.0:0.9113:0.0	.	433	Q8WXH2	JPH3_HUMAN	H	296;433	ENSP00000284262:Q433H	ENSP00000284262:Q433H	Q	+	3	2	JPH3	86280766	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	5.235000	0.65348	2.050000	0.60909	0.655000	0.94253	CAG	JPH3	-	pirsf_Junctophilin		0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	G			87723265	1	no_errors	ENST00000284262	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87723265	G	C	87723265	3	2	13	1	0	0	0	0	1	0	0	0	7982	933	33	1	1313	1	JPH3	16	87723265	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3027883	87723265	2631488	679	2123										
ZFPM1	161882	genome.wustl.edu	37	chr16	88599036	88599036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttccaggagagcggcccttcGtgtgcctgatctgcctgtcg	13	13	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:88599036G>A	ENST00000319555.3	+	8	1283	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	321					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGCCCTTCGTGTGCCTGAT	0.677																																					Pancreas(49;850 1106 29641 32847 38344)												0													31	29	30					16																	88599036		2186	4290	6476	SO:0001583	missense	161882			AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.961G>A	16.37:g.88599036G>A	ENSP00000326630:p.Val321Met			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V321M	ENST00000319555.3	37	c.961	CCDS32502.1	16	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597528	0.87055	.	.	ENSG00000179588	ENST00000319555	T	0.18657	2.2	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.072508	0.53938	U	0.000047	T	0.41719	0.1171	L	0.55213	1.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.30504	-0.9976	10	0.52906	T	0.07	-10.5681	16.1519	0.81629	0.0:0.0:1.0:0.0	.	321	Q8IX07	FOG1_HUMAN	M	321	ENSP00000326630:V321M	ENSP00000326630:V321M	V	+	1	0	ZFPM1	87126537	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.067000	0.76741	2.121000	0.65114	0.306000	0.20318	GTG	ZFPM1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM1	HGNC	protein_coding	OTTHUMT00000422270.2	G			88599036	1	no_errors	ENST00000319555	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88599036	G	A	88599036	3	1	13	1	0	0	0	0	1	0	0	0	17687	1145	40	2	991	2	ZFPM1	16	88599036	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	875771	88599036	1755717	680	2124										
PRDM7	11105	genome.wustl.edu	37	chr16	90124847	90124847	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatggtcctgggaagttctGagaggagtgattgcgttcca	15	6	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:90124847G>C	ENST00000449207.2	-	10	1348	c.1329C>G	c.(1327-1329)ctC>ctG	p.L443L	PRDM7_ENST00000407825.1_Nonsense_Mutation_p.S143*|PRDM7_ENST00000325921.6_Nonsense_Mutation_p.S143*	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	443					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGAAGTTCTGAGAGGAGTGA	0.488																																																	0													144	138	140					16																	90124847		2198	4300	6498	SO:0001819	synonymous_variant	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1329C>G	16.37:g.90124847G>C			A4Q9G8|Q08EM4|Q9NQW4	Nonsense_Mutation	SNP	NULL	p.S143*	ENST00000449207.2	37	c.428	CCDS45557.1	16	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744903	0.49151	.	.	ENSG00000126856	ENST00000325921;ENST00000407825	.	.	.	2.69	0.21	0.15231	.	.	.	.	.	.	.	.	.	.	.	0.37549	D	0.918632	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3908	9.4947	0.38982	0.0:0.4137:0.5863:0.0	.	.	.	.	X	143	.	.	S	-	2	0	PRDM7	88652348	0.985000	0.35326	0.517000	0.27799	0.151000	0.21798	0.471000	0.22100	0.403000	0.25479	0.467000	0.42956	TCA	PRDM7	-	NULL		0.488	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	HGNC	protein_coding	OTTHUMT00000420560.1	G			90124847	-1	no_errors	ENST00000325921	ensembl	human	known	70_37	nonsense	SNP	0.066	C	C	90124847	G	C	90124847	2	2	13	1	0	0	0	0	0	0	0	1	12488	1294	45	1		1	PRDM7	16	90124847	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1525811	90124847	229906	681	2125										
SCARF1	8578	genome.wustl.edu	37	chr17	1538734	1538734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggagagctcccctgagcttCggcgactctgtggtgcaaac	13	12	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:1538734C>T	ENST00000263071.4	-	11	1860	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R518Q	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	604	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGAGCTTCGGCGACTCTG	0.677																																																	0													59	62	61					17																	1538734		2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1811G>A	17.37:g.1538734C>T	ENSP00000263071:p.Arg604Gln		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.R604Q	ENST00000263071.4	37	c.1811	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837474	0.32513	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.34859	1.34;1.34	5.21	1.64	0.23874	.	0.681392	0.12151	N	0.494919	T	0.26882	0.0658	L	0.40543	1.245	0.27555	N	0.950367	B;B	0.31968	0.341;0.349	B;B	0.20955	0.029;0.032	T	0.10567	-1.0624	10	0.45353	T	0.12	-3.5912	11.542	0.50672	0.0:0.7674:0.0:0.2326	.	518;604	Q14162-2;Q14162	.;SREC_HUMAN	Q	604;518	ENSP00000263071:R604Q;ENSP00000323964:R518Q	ENSP00000263071:R604Q	R	-	2	0	SCARF1	1485484	0.001000	0.12720	0.983000	0.44433	0.355000	0.29361	0.574000	0.23714	0.595000	0.29777	-0.266000	0.10368	CGA	SCARF1	-	NULL		0.677	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	C	NM_003693		1538734	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	0.970	T	T	1538734	C	T	1538734	3	4	13	1	0	0	0	0	1	0	0	0	13913	884	31	1	685	1	SCARF1	17	1538734	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		1538734	79656476	682	2126										
PRPF8	10594	genome.wustl.edu	37	chr17	1556852	1556852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcacttgggcccgaaggtcaGatatgcagatgaacttctta	10	9	3	3	rs387906971		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:1556852G>C	ENST00000572621.1	-	38	6618	c.6353C>G	c.(6352-6354)tCt>tGt	p.S2118C	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Missense_Mutation_p.S2118C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2118	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCGAAGGTCAGATATGCAGAT	0.463																																																	0													122	103	110					17																	1556852		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6353C>G	17.37:g.1556852G>C	ENSP00000460348:p.Ser2118Cys		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.S2118C	ENST00000572621.1	37	c.6353	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785710	0.70337	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.78	4.81	0.61882	.	0.049742	0.85682	D	0.000000	T	0.73513	0.3596	M	0.90870	3.155	0.80722	D	1	D	0.59357	0.985	P	0.58928	0.848	T	0.77760	-0.2467	10	0.38643	T	0.18	.	13.6743	0.62445	0.0733:0.0:0.9267:0.0	.	2118	Q6P2Q9	PRP8_HUMAN	C	2118	ENSP00000304350:S2118C	ENSP00000304350:S2118C	S	-	2	0	PRPF8	1503602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.631000	0.98424	1.450000	0.47717	0.655000	0.94253	TCT	PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.463	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1556852	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1556852	G	C	1556852	3	2	13	1	0	0	0	0	1	0	0	0	12602	942	33	1	674	1	PRPF8	17	1556852	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	18118	1556852	79638358	683	2127										
OR1D2	4991	genome.wustl.edu	37	chr17	2995364	2995364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aattgccctcatgtcagcctCttaaagtgtttatctaggag	8	9	4	0	rs377057127		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:2995364C>G	ENST00000331459.1	-	1	926	c.927G>C	c.(925-927)aaG>aaC	p.K309N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	309					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATGTCAGCCTCTTAAAGTGTT	0.458																																																	0													126	119	122					17																	2995364		2203	4300	6503	SO:0001583	missense	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.927G>C	17.37:g.2995364C>G	ENSP00000327585:p.Lys309Asn		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K309N	ENST00000331459.1	37	c.927	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	c	8.428	0.848049	0.17034	.	.	ENSG00000184166	ENST00000331459	T	0.37915	1.17	2.35	2.35	0.29111	.	.	.	.	.	T	0.15912	0.0383	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.17077	-1.0381	9	0.27082	T	0.32	.	8.2678	0.31824	0.0:1.0:0.0:0.0	.	309	P34982	OR1D2_HUMAN	N	309	ENSP00000327585:K309N	ENSP00000327585:K309N	K	-	3	2	OR1D2	2942114	0.000000	0.05858	0.028000	0.17463	0.246000	0.25737	-0.012000	0.12699	1.606000	0.50161	0.543000	0.68304	AAG	OR1D2	-	NULL		0.458	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	C	NM_002548		2995364	-1	no_errors	ENST00000331459	ensembl	human	known	70_37	missense	SNP	0.005	G	G	2995364	C	G	2995364	3	3	13	1	0	0	0	0	1	0	0	0	10977	912	32	1	14	1	OR1D2	17	2995364	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1438512	2995364	78199846	684	2128										
OR1D2	4991	genome.wustl.edu	37	chr17	2995386	2995386	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	taaagtgtttatctaggagtCttcccagagccccatgcatg	9	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:2995386C>G	ENST00000331459.1	-	1	904	c.905G>C	c.(904-906)aGa>aCa	p.R302T		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	302					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463																																																	0													132	127	129					17																	2995386		2203	4300	6503	SO:0001583	missense	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.905G>C	17.37:g.2995386C>G	ENSP00000327585:p.Arg302Thr		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R302T	ENST00000331459.1	37	c.905	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	c	9.561	1.118356	0.20877	.	.	ENSG00000184166	ENST00000331459	T	0.40476	1.03	3.21	-1.42	0.08913	.	.	.	.	.	T	0.43211	0.1237	M	0.86740	2.835	0.09310	N	1	P	0.35124	0.485	B	0.34991	0.193	T	0.41928	-0.9481	9	0.51188	T	0.08	.	5.1861	0.15185	0.0:0.3175:0.1581:0.5243	.	302	P34982	OR1D2_HUMAN	T	302	ENSP00000327585:R302T	ENSP00000327585:R302T	R	-	2	0	OR1D2	2942136	0.004000	0.15560	0.577000	0.28562	0.839000	0.47603	-0.029000	0.12329	-0.171000	0.10797	-0.324000	0.08512	AGA	OR1D2	-	NULL		0.463	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	C	NM_002548		2995386	-1	no_errors	ENST00000331459	ensembl	human	known	70_37	missense	SNP	0.001	G	G	2995386	C	G	2995386	3	3	13	1	0	0	0	0	1	0	0	0	10977	913	32	1	36	1	OR1D2	17	2995386	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	22	2995386	78199824	685	2129										
CTNS	1497	genome.wustl.edu	37	chr17	3552207	3552207	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgttccaaaaatattactatCcttgagctccccgatgaagt	6	11	0	2	rs113994204		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:3552207C>T	ENST00000046640.3	+	5	800	c.207C>T	c.(205-207)atC>atT	p.I69I	CTNS_ENST00000381870.3_Silent_p.I69I|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Silent_p.I69I|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000488623.1_3'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	69			Missing (in CTNSJAN). {ECO:0000269|PubMed:9792862}.		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ATATTACTATCCTTGAGCTCC	0.413																																																	0													140	121	127					17																	3552207		2203	4300	6503	SO:0001819	synonymous_variant	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.207C>T	17.37:g.3552207C>T			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	smart_CTNS,tigrfam_LC_transporter	p.I69	ENST00000046640.3	37	c.207	CCDS11031.1	17																																																																																			CTNS	-	NULL		0.413	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	C	NM_004937		3552207	1	no_errors	ENST00000381870	ensembl	human	known	70_37	silent	SNP	0.999	T	T	3552207	C	T	3552207	2	4	13	1	0	0	0	0	0	0	0	1	4026	845	30	1		1	CTNS	17	3552207	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	556821	3552207	77643003	686	2130										
ATP2A3	489	genome.wustl.edu	37	chr17	3840822	3840822	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatggaggcaaagttgtcatCtgacagcaccatctctgccg	11	11	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:3840822C>G	ENST00000352011.3	-	15	2263	c.2209G>C	c.(2209-2211)Gat>Cat	p.D737H	ATP2A3_ENST00000397043.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000309890.7_Missense_Mutation_p.D737H|ATP2A3_ENST00000397041.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000397035.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000359983.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	737					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AAGTTGTCATCTGACAGCACC	0.592																																					GBM(32;29 774 15719 37967)												0													100	75	83					17																	3840822		2203	4299	6502	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2209G>C	17.37:g.3840822C>G	ENSP00000301387:p.Asp737His		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.D737H	ENST00000352011.3	37	c.2209	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079499	0.76528	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	4.17	4.17	0.49024	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.997;0.994;0.997;0.997;0.997	D	0.97395	0.9992	10	0.87932	D	0	.	16.7406	0.85458	0.0:1.0:0.0:0.0	.	737;737;737;737;737;737	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	H	737	ENSP00000380236:D737H;ENSP00000301387:D737H;ENSP00000353072:D737H;ENSP00000380234:D737H;ENSP00000312577:D737H;ENSP00000380229:D737H	ENSP00000312577:D737H	D	-	1	0	ATP2A3	3787571	1.000000	0.71417	0.983000	0.44433	0.716000	0.41182	7.651000	0.83577	2.607000	0.88179	0.563000	0.77884	GAT	ATP2A3	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.592	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3840822	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3840822	C	G	3840822	3	3	13	1	0	0	0	0	1	0	0	0	1139	913	32	1	1029	1	ATP2A3	17	3840822	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	288615	3840822	77354388	687	2131										
TEKT1	83659	genome.wustl.edu	37	chr17	6704097	6704097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgggtgatctcttgaacctCcttcattagcctatattgtg	9	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:6704097C>T	ENST00000338694.2	-	7	1147	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	TEKT1_ENST00000535086.1_Missense_Mutation_p.E194K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	340						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTTGAACCTCCTTCATTAGC	0.562											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													216	190	199					17																	6704097		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1018G>A	17.37:g.6704097C>T	ENSP00000341346:p.Glu340Lys	636	D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E340K	ENST00000338694.2	37	c.1018	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.271297	0.95429	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.10005	2.92;2.92	5.84	5.84	0.93424	.	0.098481	0.64402	D	0.000002	T	0.47078	0.1426	H	0.94264	3.515	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.58555	-0.7616	10	0.87932	D	0	.	18.0168	0.89243	0.0:1.0:0.0:0.0	.	340	Q969V4	TEKT1_HUMAN	K	340;194	ENSP00000341346:E340K;ENSP00000444142:E194K	ENSP00000341346:E340K	E	-	1	0	TEKT1	6644821	1.000000	0.71417	0.812000	0.32479	0.878000	0.50629	5.523000	0.67099	2.937000	0.99478	0.650000	0.86243	GAG	TEKT1	-	pfam_Tektin,prints_Tektin		0.562	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704097	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.988	T	T	6704097	C	T	6704097	3	4	13	1	0	0	0	0	1	0	0	0	15782	864	30	1	246	1	TEKT1	17	6704097	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2863275	6704097	74491113	688	2132			3	8		3	3	121	C		5.691639e-06
TEKT1	83659	genome.wustl.edu	37	chr17	6704202	6704202	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttggctggcccttcttggtCaaggatggccttttcaagag	12	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:6704202C>T	ENST00000338694.2	-	7	1042	c.913G>A	c.(913-915)Gac>Aac	p.D305N	TEKT1_ENST00000535086.1_Missense_Mutation_p.D159N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	305						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTTCTTGGTCAAGGATGGCC	0.502																																																	0													161	159	160					17																	6704202		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.913G>A	17.37:g.6704202C>T	ENSP00000341346:p.Asp305Asn		D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.D305N	ENST00000338694.2	37	c.913	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930483	0.92389	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03004	4.08;4.08	5.85	4.86	0.63082	.	0.144298	0.64402	D	0.000010	T	0.15305	0.0369	M	0.84585	2.705	0.40544	D	0.981054	P	0.47545	0.897	P	0.53360	0.724	T	0.01319	-1.1386	10	0.54805	T	0.06	.	14.7447	0.69483	0.0:0.8491:0.1509:0.0	.	305	Q969V4	TEKT1_HUMAN	N	305;159	ENSP00000341346:D305N;ENSP00000444142:D159N	ENSP00000341346:D305N	D	-	1	0	TEKT1	6644926	0.997000	0.39634	0.952000	0.39060	0.997000	0.91878	3.943000	0.56621	1.585000	0.49928	0.655000	0.94253	GAC	TEKT1	-	pfam_Tektin,prints_Tektin		0.502	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704202	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.981	T	T	6704202	C	T	6704202	3	4	13	1	0	0	0	0	1	0	0	0	15782	826	29	1	351	1	TEKT1	17	6704202	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	105	6704202	74491008	689	2133			3	8		3	3	121	C		5.691639e-06
TEKT1	83659	genome.wustl.edu	37	chr17	6704217	6704217	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttggtcaaggatggccttttCaagagctgtaatatttttct	9	6	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:6704217C>T	ENST00000338694.2	-	7	1027	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	TEKT1_ENST00000535086.1_Missense_Mutation_p.E154K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	300						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATGGCCTTTTCAAGAGCTGTA	0.512																																																	0													142	143	143					17																	6704217		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.898G>A	17.37:g.6704217C>T	ENSP00000341346:p.Glu300Lys		D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E300K	ENST00000338694.2	37	c.898	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834706	0.16820	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02446	4.29;4.29	5.85	3.76	0.43208	.	0.456228	0.25408	N	0.030891	T	0.01523	0.0049	N	0.11313	0.125	0.31562	N	0.657372	B	0.10296	0.003	B	0.16289	0.015	T	0.39800	-0.9596	10	0.15499	T	0.54	.	5.2575	0.15555	0.0:0.6604:0.1823:0.1572	.	300	Q969V4	TEKT1_HUMAN	K	300;154	ENSP00000341346:E300K;ENSP00000444142:E154K	ENSP00000341346:E300K	E	-	1	0	TEKT1	6644941	0.932000	0.31603	1.000000	0.80357	0.993000	0.82548	1.573000	0.36472	2.941000	0.99782	0.655000	0.94253	GAA	TEKT1	-	pfam_Tektin		0.512	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704217	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.980	T	T	6704217	C	T	6704217	3	4	13	1	0	0	0	0	1	0	0	0	15782	835	29	1	366	1	TEKT1	17	6704217	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	15	6704217	74490993	690	2134			3	8		3	3	121	C		5.691639e-06
CHD3	1107	genome.wustl.edu	37	chr17	7803244	7803244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggtgaagttccatgttctcCtgacatcgtatgagctgatc	10	9	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:7803244C>G	ENST00000330494.7	+	16	2725	c.2575C>G	c.(2575-2577)Ctg>Gtg	p.L859V	CHD3_ENST00000380358.4_Missense_Mutation_p.L918V|CHD3_ENST00000358181.4_Missense_Mutation_p.L859V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	859	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCATGTTCTCCTGACATCGTA	0.517																																																	0													200	167	178					17																	7803244		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2575C>G	17.37:g.7803244C>G	ENSP00000332628:p.Leu859Val		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L859V	ENST00000330494.7	37	c.2575	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222547	0.58668	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.92965	-3.14;-3.14;-3.14	5.4	5.4	0.78164	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.36234	N	0.002704	D	0.94182	0.8133	L	0.37750	1.13	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.99;0.994;0.994	D	0.94596	0.7792	10	0.87932	D	0	-14.8506	19.3555	0.94410	0.0:1.0:0.0:0.0	.	859;859;918	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	918;859;859	ENSP00000369716:L918V;ENSP00000350907:L859V;ENSP00000332628:L859V	ENSP00000332628:L859V	L	+	1	2	CHD3	7743969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.706000	0.61845	2.813000	0.96785	0.561000	0.74099	CTG	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7803244	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7803244	C	G	7803244	3	3	13	1	0	0	0	0	1	0	0	0	3331	680	24	4	2918	4	CHD3	17	7803244	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1099027	7803244	73391966	691	2135										
LRRC48	83450	genome.wustl.edu	37	chr17	17891275	17891275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcaacaacattgagaccatcGaggggctggacacactggtg	12	10	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:17891275G>A	ENST00000399187.1	+	5	525	c.307G>A	c.(307-309)Gag>Aag	p.E103K	LRRC48_ENST00000313838.8_Missense_Mutation_p.E103K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E103K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E103K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E103K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	103						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGAGACCATCGAGGGGCTGGA	0.547																																																	0													76	77	77					17																	17891275		1995	4162	6157	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.307G>A	17.37:g.17891275G>A	ENSP00000382140:p.Glu103Lys		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.E103K	ENST00000399187.1	37	c.307	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856207	0.91355	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.97	3.99	0.46301	.	0.049164	0.85682	D	0.000000	T	0.64757	0.2627	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.65987	0.94;0.901	T	0.66626	-0.5876	10	0.62326	D	0.03	-23.8575	12.5471	0.56206	0.0836:0.0:0.9164:0.0	.	103;103	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	103	ENSP00000326870:E103K;ENSP00000394020:E103K;ENSP00000382140:E103K;ENSP00000382136:E103K	ENSP00000326870:E103K	E	+	1	0	LRRC48	17832000	1.000000	0.71417	0.951000	0.38953	0.922000	0.55478	6.192000	0.72069	1.058000	0.40530	0.655000	0.94253	GAG	LRRC48	-	NULL		0.547	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17891275	1	no_errors	ENST00000313838	ensembl	human	known	70_37	missense	SNP	0.986	A	A	17891275	G	A	17891275	3	1	13	1	0	0	0	0	1	0	0	0	9028	1059	37	1	317	1	LRRC48	17	17891275	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10088031	17891275	63303935	692	2136										
MYO15A	51168	genome.wustl.edu	37	chr17	18025405	18025405	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttggcgcccatcagggccccAgagcccctgcccaagggggg	15	16	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:18025405A>C	ENST00000205890.5	+	2	3629	c.3291A>C	c.(3289-3291)ccA>ccC	p.P1097P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1097					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGGGCCCCAGAGCCCCTGC	0.677																																																	0													38	44	42					17																	18025405		1920	4114	6034	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3291A>C	17.37:g.18025405A>C			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.P1097	ENST00000205890.5	37	c.3291	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	A	NM_016239		18025405	1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.001	C	C	18025405	A	C	18025405	2	2	13	1	0	0	0	0	0	0	0	1	10086	175	7	5		5	MYO15A	17	18025405	Silent	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	134130	18025405	63169805	693	2137										
NOS2	4843	genome.wustl.edu	37	chr17	26087701	26087701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagaaactgcggaagggcgcGatgcctgtgccaggcccgat	15	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:26087701G>A	ENST00000313735.6	-	24	3191	c.2958C>T	c.(2956-2958)atC>atT	p.I986I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	986					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGAAGGGCGCGATGCCTGTGC	0.662											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25	22	23					17																	26087701		2157	4196	6353	SO:0001819	synonymous_variant	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2958C>T	17.37:g.26087701G>A		784	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.I986	ENST00000313735.6	37	c.2958	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.297031	0.05532	.	.	ENSG00000007171	ENST00000302153	.	.	.	4.63	-4.65	0.03339	.	.	.	.	.	T	0.56877	0.2015	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62129	-0.6919	5	0.54805	T	0.06	.	7.9008	0.29734	0.6809:0.0:0.1936:0.1255	.	.	.	.	L	706	.	ENSP00000305638:S706L	S	-	2	0	NOS2	23111828	0.001000	0.12720	0.974000	0.42286	0.168000	0.22595	-1.351000	0.02622	-0.517000	0.06461	-0.463000	0.05309	TCG	NOS2	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.662	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26087701	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	silent	SNP	0.900	A	A	26087701	G	A	26087701	2	1	13	1	0	0	0	0	0	0	0	1	10567	1048	37	1		1	NOS2	17	26087701	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8062296	26087701	55107509	694	2138										
SGK494	9703	genome.wustl.edu	37	chr17	26938458	26938458	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacacccagggaccaccaatCagcagcatggttgtaaggtc	11	12	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:26938458C>T	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000534850.1_3'UTR|SGK494_ENST00000301037.5_Missense_Mutation_p.D285N|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000469832.3_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GACCACCAATCAGCAGCATGG	0.493																																																	0																																										SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26938458C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	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.D285N	ENST00000528896.2	37	c.853	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517422	0.85495	.	.	ENSG00000167524	ENST00000301037	T	0.55760	0.5	5.45	4.48	0.54585	.	.	.	.	.	T	0.66025	0.2748	.	.	.	0.42263	D	0.992021	.	.	.	.	.	.	T	0.70769	-0.4782	6	0.87932	D	0	.	13.4036	0.60898	0.0:0.9241:0.0:0.0759	.	.	.	.	N	285	ENSP00000301037:D285N	ENSP00000301037:D285N	D	-	1	0	AC005726.6	23962585	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.470000	0.66756	1.310000	0.45006	0.467000	0.42956	GAT	SGK494	-	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		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK494	Uniprot_genename	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26938458	-1	no_errors	ENST00000301037	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26938458	C	T	26938458	1	4	13	0	1	0	0	0	0	0	0	0	14243	826	29	1		1	SGK494	17	26938458	IGR	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	850757	26938458	54256752	695	2139										
KIAA0100	9703	genome.wustl.edu	37	chr17	26959124	26959124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgtagtgctgaccaagtttCttcttgctgggtttcaggtt	11	7	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:26959124C>T	ENST00000528896.2	-	21	4013	c.3939G>A	c.(3937-3939)aaG>aaA	p.K1313K	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.K1170K|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.K1170K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1313						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GACCAAGTTTCTTCTTGCTGG	0.493																																																	0													322	307	312					17																	26959124		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3939G>A	17.37:g.26959124C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.K1313	ENST00000528896.2	37	c.3939	CCDS32595.1	17																																																																																			KIAA0100	-	NULL		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26959124	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26959124	C	T	26959124	2	4	13	1	0	0	0	0	0	0	0	1	8174	912	32	1		1	KIAA0100	17	26959124	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	20666	26959124	54236086	696	2140										
EFCAB5	374786	genome.wustl.edu	37	chr17	28380537	28380537	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaaggaccacaaagaatttCaattgaagaacaacaacaag	6	8	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:28380537C>T	ENST00000394835.3	+	10	1757	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	EFCAB5_ENST00000378738.3_Missense_Mutation_p.S522L|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S522L|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S466L|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S522L|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S179L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	522							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAAGAATTTCAATTGAAGAA	0.418																																																	0													84	82	83					17																	28380537		1971	4160	6131	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1565C>T	17.37:g.28380537C>T	ENSP00000378312:p.Ser522Leu		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S522L	ENST00000394835.3	37	c.1565	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083032	0.36758	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.65	0.923	0.19413	.	0.838469	0.10093	N	0.716881	T	0.36608	0.0973	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B	0.18013	0.015;0.025;0.012;0.012;0.01;0.009	B;B;B;B;B;B	0.20184	0.012;0.028;0.016;0.016;0.009;0.013	T	0.28650	-1.0037	10	0.31617	T	0.26	-1.5682	6.6817	0.23123	0.0:0.5786:0.0:0.4214	.	466;466;522;522;522;522	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	L	466;265;179;522;522;522;522;466;328	ENSP00000440619:S466L;ENSP00000445575:S179L;ENSP00000378312:S522L;ENSP00000322003:S522L;ENSP00000378309:S522L;ENSP00000368012:S522L;ENSP00000417009:S328L	ENSP00000322003:S522L	S	+	2	0	EFCAB5	25404663	0.000000	0.05858	0.004000	0.12327	0.061000	0.15899	0.021000	0.13489	0.434000	0.26340	0.655000	0.94253	TCA	EFCAB5	-	NULL		0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	C	NM_198529		28380537	1	no_errors	ENST00000394835	ensembl	human	known	70_37	missense	SNP	0.001	T	T	28380537	C	T	28380537	3	4	13	1	0	0	0	0	1	0	0	0	4948	838	29	1	1603	1	EFCAB5	17	28380537	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1421413	28380537	52814673	697	2141										
ACCN1	40	genome.wustl.edu	37	chr17	31618955	31618955	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcagtttagcgcggctcagcGatggccgccccctgcgggcg	16	15	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:31618955G>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.S60L|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCGGCTCAGCGATGGCCGCCC	0.801																																																	0													6	8	8					17																	31618955		2083	4030	6113	SO:0001627	intron_variant	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179870C>T	17.37:g.31618955G>A			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S60L	ENST00000359872.6	37	c.179	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308676	0.23821	.	.	ENSG00000108684	ENST00000225823	T	0.60920	0.15	4.44	2.37	0.29283	.	0.664334	0.13289	N	0.399168	T	0.33731	0.0873	N	0.08118	0	0.21527	N	0.999654	B	0.20261	0.043	B	0.08055	0.003	T	0.22661	-1.0210	10	0.62326	D	0.03	-5.9582	6.7026	0.23232	0.0981:0.0:0.7248:0.1771	.	60	E9PBX2	.	L	60	ENSP00000225823:S60L	ENSP00000225823:S60L	S	-	2	0	ACCN1	28643068	0.767000	0.28508	0.606000	0.28943	0.836000	0.47400	1.803000	0.38863	0.523000	0.28482	0.241000	0.17934	TCG	ASIC2	-	NULL		0.801	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	G	NM_183377, NM_001094		31618955	-1	no_errors	ENST00000225823	ensembl	human	known	70_37	missense	SNP	0.194	A	A	31618955	G	A	31618955	1	1	13	0	1	0	0	0	0	0	0	0	128	1059	37	1		1	ACCN1	17	31618955	Intron	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3238418	31618955	49576255	698	2142										
RFFL	117584	genome.wustl.edu	37	chr17	33348523	33348523	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctgctgctcaggaaagtctGgggacaaggtggaggcacga	16	9	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:33348523G>C	ENST00000315249.7	-	3	680	c.458C>G	c.(457-459)cCa>cGa	p.P153R	RFFL_ENST00000394597.2_Missense_Mutation_p.P153R|RFFL_ENST00000447669.2_Missense_Mutation_p.P153R|RFFL_ENST00000584655.1_Missense_Mutation_p.P153R|RFFL_ENST00000413582.2_Missense_Mutation_p.P153R|RFFL_ENST00000378516.2_Missense_Mutation_p.P153R|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Missense_Mutation_p.P153R|RFFL_ENST00000268850.7_Missense_Mutation_p.P153R					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGAAAGTCTGGGGACAAGGT	0.587																																																	0													81	64	70					17																	33348523		2203	4300	6503	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.458C>G	17.37:g.33348523G>C	ENSP00000326170:p.Pro153Arg			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.P153R	ENST00000315249.7	37	c.458	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	G	1.021	-0.684972	0.03328	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.41758	1.0;1.0;1.0;0.99;1.0;1.0	5.65	3.64	0.41730	.	0.775582	0.12851	N	0.433932	T	0.24851	0.0603	L	0.29908	0.895	0.09310	N	1	B;B;P;B	0.35780	0.078;0.161;0.52;0.161	B;B;B;B	0.29267	0.079;0.099;0.1;0.067	T	0.09292	-1.0681	10	0.12766	T	0.61	-6.0439	8.2177	0.31521	0.0782:0.0:0.7611:0.1606	.	153;153;153;153	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	R	153	ENSP00000326170:P153R;ENSP00000378096:P153R;ENSP00000367777:P153R;ENSP00000268850:P153R;ENSP00000408513:P153R;ENSP00000412322:P153R	ENSP00000268850:P153R	P	-	2	0	RFFL	30372636	1.000000	0.71417	0.339000	0.25562	0.129000	0.20672	4.910000	0.63321	0.898000	0.36418	-0.136000	0.14681	CCA	RFFL	-	NULL		0.587	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	G	NM_057178		33348523	-1	no_errors	ENST00000315249	ensembl	human	known	70_37	missense	SNP	0.002	C	C	33348523	G	C	33348523	3	2	13	1	0	0	0	0	1	0	0	0	13280	1348	47	4	653	4	RFFL	17	33348523	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1729568	33348523	47846687	699	2143										
GAS2L2	246176	genome.wustl.edu	37	chr17	34074179	34074179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagggggtggtgggctctgtGagcggctgatggtcattgta	19	6	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:34074179G>A	ENST00000254466.6	-	5	968	c.941C>T	c.(940-942)tCa>tTa	p.S314L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S298L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	314					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGGCTCTGTGAGCGGCTGAT	0.632																																																	0													105	113	110					17																	34074179		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.941C>T	17.37:g.34074179G>A	ENSP00000254466:p.Ser314Leu		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S314L	ENST00000254466.6	37	c.941	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785739	0.49997	.	.	ENSG00000132139	ENST00000254466	T	0.20332	2.08	5.1	5.1	0.69264	.	0.174627	0.39909	N	0.001229	T	0.43986	0.1272	M	0.63843	1.955	0.45046	D	0.998064	D	0.89917	1.0	D	0.80764	0.994	T	0.29488	-1.0010	10	0.66056	D	0.02	-25.8985	15.3692	0.74548	0.0:0.0:1.0:0.0	.	314	Q8NHY3	GA2L2_HUMAN	L	314	ENSP00000254466:S314L	ENSP00000254466:S314L	S	-	2	0	GAS2L2	31098292	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.728000	0.68531	2.644000	0.89710	0.561000	0.74099	TCA	GAS2L2	-	NULL		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34074179	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34074179	G	A	34074179	3	1	13	1	0	0	0	0	1	0	0	0	6266	1294	45	1	1709	1	GAS2L2	17	34074179	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	725656	34074179	47121031	700	2144										
CACNB1	782	genome.wustl.edu	37	chr17	37331542	37331542	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcgcagtagcgggccttattCcggccccggttccggttgtc	14	14	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37331542C>T	ENST00000394303.3	-	14	1908	c.1701G>A	c.(1699-1701)cgG>cgA	p.R567R	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	567					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCCTTATTCCGGCCCCGGT	0.647											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)												0													130	145	140					17																	37331542		1899	4099	5998	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1701G>A	17.37:g.37331542C>T		869	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.R567	ENST00000394303.3	37	c.1701	CCDS42311.1	17																																																																																			CACNB1	-	NULL		0.647	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	C			37331542	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37331542	C	T	37331542	2	4	13	1	0	0	0	0	0	0	0	1	2557	842	30	1		1	CACNB1	17	37331542	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3257363	37331542	43863668	701	2145										
CDK12	51755	genome.wustl.edu	37	chr17	37627371	37627371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcacctgtatttttgcctaGaaaagagaacagttcagtag	8	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37627371G>C	ENST00000447079.4	+	2	1319	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T	CDK12_ENST00000430627.2_Missense_Mutation_p.R429T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	429					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTTTGCCTAGAAAAGAGAAC	0.438			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													64	65	65					17																	37627371		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1286G>C	17.37:g.37627371G>C	ENSP00000398880:p.Arg429Thr		A7E2B2|B4DYX4|B9EIQ6|O94978	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.R429T	ENST00000447079.4	37	c.1286	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538122	0.27475	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.40476	1.03;1.03	6.16	-4.37	0.03633	.	0.656413	0.14161	N	0.337377	T	0.23210	0.0561	N	0.08118	0	0.28767	N	0.900587	B;B;B	0.24043	0.058;0.058;0.096	B;B;B	0.26310	0.031;0.031;0.068	T	0.11891	-1.0569	10	0.59425	D	0.04	-1.3688	15.948	0.79809	0.5888:0.0:0.4112:0.0	.	428;429;429	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	429	ENSP00000407720:R429T;ENSP00000398880:R429T	ENSP00000407720:R429T	R	+	2	0	CDK12	34880897	0.945000	0.32115	0.911000	0.35937	0.994000	0.84299	0.120000	0.15647	-0.655000	0.05387	-0.355000	0.07637	AGA	CDK12	-	NULL		0.438	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37627371	1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	0.514	C	C	37627371	G	C	37627371	3	2	13	1	0	0	0	0	1	0	0	0	3133	942	33	1	1292	1	CDK12	17	37627371	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	295829	37627371	43567839	702	2146										
ERBB2	2064	genome.wustl.edu	37	chr17	37866407	37866407	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgcccactgactgctgccatGagcagtgtgctgccggctgc	13	14	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37866407G>A	ENST00000269571.5	+	6	871	c.712G>A	c.(712-714)Gag>Aag	p.E238K	ERBB2_ENST00000584450.1_Missense_Mutation_p.E238K|ERBB2_ENST00000578199.1_Missense_Mutation_p.E208K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E223K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E208K|ERBB2_ENST00000406381.2_Missense_Mutation_p.E208K|ERBB2_ENST00000540042.1_Missense_Mutation_p.E208K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E208K|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	238					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGCTGCCATGAGCAGTGTGC	0.642		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													60	62	61					17																	37866407		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.712G>A	17.37:g.37866407G>A	ENSP00000269571:p.Glu238Lys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E238K	ENST00000269571.5	37	c.712	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376036	0.61735	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.62	5.62	0.85841	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	D	0.84023	0.5381	L	0.43152	1.355	0.44771	D	0.997774	B;B;P;B	0.38020	0.305;0.178;0.615;0.328	B;B;B;B	0.42625	0.17;0.056;0.393;0.147	T	0.82178	-0.0586	9	0.33940	T	0.23	.	18.4263	0.90610	0.0:0.0:1.0:0.0	.	208;223;238;238	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	K	208;223;238;208;208	ENSP00000385185:E208K;ENSP00000446466:E223K;ENSP00000269571:E238K;ENSP00000443562:E208K;ENSP00000446382:E208K	ENSP00000269571:E238K	E	+	1	0	ERBB2	35119933	0.997000	0.39634	0.991000	0.47740	0.994000	0.84299	2.636000	0.46545	2.648000	0.89879	0.467000	0.42956	GAG	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37866407	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37866407	G	A	37866407	3	1	13	1	0	0	0	0	1	0	0	0	5218	1291	45	1	734	1	ERBB2	17	37866407	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	239036	37866407	43328803	703	2147										
STAT3	6774	genome.wustl.edu	37	chr17	40500481	40500481	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgtcactgtagagctgatgGagctgctccaggtaccgtgt	13	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40500481G>C	ENST00000264657.5	-	2	366	c.54C>G	c.(52-54)ctC>ctG	p.L18L	STAT3_ENST00000404395.3_Silent_p.L18L|STAT3_ENST00000588969.1_Silent_p.L18L|STAT3_ENST00000585517.1_Silent_p.L18L|STAT3_ENST00000389272.3_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	18					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGAGCTGATGGAGCTGCTCCA	0.502									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													103	96	98					17																	40500481		2203	4300	6503	SO:0001819	synonymous_variant	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.54C>G	17.37:g.40500481G>C			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L18	ENST00000264657.5	37	c.54	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.502	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	G	NM_139276, NM_003150		40500481	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	silent	SNP	0.010	C	C	40500481	G	C	40500481	2	2	13	1	0	0	0	0	0	0	0	1	15296	1161	41	1		1	STAT3	17	40500481	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2634074	40500481	40694729	704	2148										
RAMP2	10266	genome.wustl.edu	37	chr17	40914675	40914675	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagttgtttgacctgggcttCcccaatcccttggcagagag	12	11	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40914675C>T	ENST00000253796.5	+	4	401	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000589683.1_Silent_p.F36F|RAMP2_ENST00000587142.1_Silent_p.F116F|RAMP2_ENST00000588576.1_Missense_Mutation_p.S75F	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	111					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	ACCTGGGCTTCCCCAATCCCT	0.567																																																	0													104	91	95					17																	40914675		2203	4300	6503	SO:0001819	synonymous_variant	10266			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"Receptor (G protein-coupled) activity modifying proteins"	9844	protein-coding gene	gene with protein product		605154	"receptor activity modifying protein 2", "receptor (calcitonin) activity modifying protein 2"				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.333C>T	17.37:g.40914675C>T			A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	NULL	p.S75F	ENST00000253796.5	37	c.224	CCDS11437.1	17																																																																																			RAMP2	-	NULL		0.567	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1	C	NM_005854		40914675	1	no_errors	ENST00000588576	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	40914675	C	T	40914675	2	4	13	1	0	0	0	0	0	0	0	1	13052	854	30	1		1	RAMP2	17	40914675	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	414194	40914675	40280535	705	2149										
RAMP2	10266	genome.wustl.edu	37	chr17	40914699	40914699	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatcccttggcagagaggatCatctttgagactcaccagat	9	10	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40914699C>T	ENST00000253796.5	+	4	425	c.357C>T	c.(355-357)atC>atT	p.I119I	RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000589683.1_Silent_p.I44I|RAMP2_ENST00000587142.1_Silent_p.I124I|RAMP2_ENST00000588576.1_Missense_Mutation_p.S83L	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	119					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CAGAGAGGATCATCTTTGAGA	0.562																																																	0													108	92	97					17																	40914699		2203	4300	6503	SO:0001819	synonymous_variant	10266			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"Receptor (G protein-coupled) activity modifying proteins"	9844	protein-coding gene	gene with protein product		605154	"receptor activity modifying protein 2", "receptor (calcitonin) activity modifying protein 2"				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.357C>T	17.37:g.40914699C>T			A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	NULL	p.S83L	ENST00000253796.5	37	c.248	CCDS11437.1	17																																																																																			RAMP2	-	NULL		0.562	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1	C	NM_005854		40914699	1	no_errors	ENST00000588576	ensembl	human	putative	70_37	missense	SNP	0.996	T	T	40914699	C	T	40914699	2	4	13	1	0	0	0	0	0	0	0	1	13052	816	29	1		1	RAMP2	17	40914699	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	24	40914699	40280511	706	2150										
WNK4	65266	genome.wustl.edu	37	chr17	40947102	40947102	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagttctctccccacgacttCtccacctacgttctctccca	4	19	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40947102C>T	ENST00000246914.5	+	14	2684	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	888					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCACGACTTCTCCACCTACG	0.577																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													263	242	249					17																	40947102		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2663C>T	17.37:g.40947102C>T	ENSP00000246914:p.Ser888Phe		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S888F	ENST00000246914.5	37	c.2663	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	7.000	0.554666	0.13436	.	.	ENSG00000126562	ENST00000246914	T	0.25749	1.78	5.32	4.35	0.52113	.	0.179445	0.27076	N	0.021053	T	0.13713	0.0332	N	0.14661	0.345	0.27635	N	0.947919	P;P;P	0.41524	0.753;0.498;0.498	B;B;B	0.37304	0.246;0.125;0.08	T	0.07046	-1.0793	10	0.42905	T	0.14	-11.1283	8.3168	0.32104	0.0:0.7374:0.1516:0.1109	.	888;888;888	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	F	888	ENSP00000246914:S888F	ENSP00000246914:S888F	S	+	2	0	WNK4	38200628	0.016000	0.18221	0.605000	0.28930	0.056000	0.15407	1.809000	0.38922	1.367000	0.46095	0.591000	0.81541	TCT	WNK4	-	NULL		0.577	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40947102	1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.920	T	T	40947102	C	T	40947102	3	4	13	1	0	0	0	0	1	0	0	0	17411	913	32	1	2717	1	WNK4	17	40947102	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	32403	40947102	40248108	707	2151										
AOC3	8639	genome.wustl.edu	37	chr17	41004143	41004143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaccctgcccgctggactatCcagaaggtgttctatcaagg	11	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:41004143C>G	ENST00000308423.2	+	1	943	c.783C>G	c.(781-783)atC>atG	p.I261M	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	261					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCTGGACTATCCAGAAGGTGT	0.597																																					NSCLC(3;192 220 10664 11501 16477)												0													28	24	25					17																	41004143		2201	4295	6496	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.783C>G	17.37:g.41004143C>G	ENSP00000312326:p.Ile261Met		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.I261M	ENST00000308423.2	37	c.783	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277007	0.40294	.	.	ENSG00000131471	ENST00000308423	T	0.18338	2.22	4.82	1.29	0.21616	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.344001	0.27749	N	0.018019	T	0.27205	0.0667	M	0.63843	1.955	0.80722	D	1	D	0.56035	0.974	P	0.61658	0.892	T	0.03473	-1.1033	10	0.48119	T	0.1	.	4.1244	0.10121	0.0:0.2895:0.3477:0.3628	.	261	Q16853	AOC3_HUMAN	M	261	ENSP00000312326:I261M	ENSP00000312326:I261M	I	+	3	3	AOC3	38257669	0.010000	0.17322	0.998000	0.56505	0.890000	0.51754	-0.014000	0.12656	1.026000	0.39733	0.491000	0.48974	ATC	AOC3	-	pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg		0.597	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	C	NM_003734		41004143	1	no_errors	ENST00000308423	ensembl	human	known	70_37	missense	SNP	0.950	G	G	41004143	C	G	41004143	3	3	13	1	0	0	0	0	1	0	0	0	728	845	30	1	785	1	AOC3	17	41004143	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	57041	41004143	40191067	708	2152										
G6PC	2538	genome.wustl.edu	37	chr17	41061433	41061433	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agttgttgctggagtcctgtCaggtatgggctgatctgact	14	7	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:41061433C>T	ENST00000253801.2	+	4	639	c.560C>T	c.(559-561)tCa>tTa	p.S187L	G6PC_ENST00000592383.1_Silent_p.V161V|G6PC_ENST00000585489.1_Intron	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	187					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGAGTCCTGTCAGGTATGGGC	0.498																																																	0													292	243	260					17																	41061433		2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.560C>T	17.37:g.41061433C>T	ENSP00000253801:p.Ser187Leu		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.S187L	ENST00000253801.2	37	c.560	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	C	18.80	3.699996	0.68501	.	.	ENSG00000131482	ENST00000253801	T	0.69306	-0.39	5.62	5.62	0.85841	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.183062	0.38326	N	0.001725	T	0.60301	0.2258	N	0.16478	0.41	0.80722	D	1	D	0.56968	0.978	P	0.51324	0.666	T	0.53408	-0.8443	10	0.09084	T	0.74	.	19.8538	0.96750	0.0:1.0:0.0:0.0	.	187	P35575	G6PC_HUMAN	L	187	ENSP00000253801:S187L	ENSP00000253801:S187L	S	+	2	0	G6PC	38314959	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.236000	0.51336	2.927000	0.99377	0.637000	0.83480	TCA	G6PC	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase		0.498	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	C	NM_000151		41061433	1	no_errors	ENST00000253801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41061433	C	T	41061433	3	4	13	1	0	0	0	0	1	0	0	0	6161	838	29	1	574	1	G6PC	17	41061433	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	57290	41061433	40133777	709	2153										
RND2	8153	genome.wustl.edu	37	chr17	41178062	41178062	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctcaacatgtgggacacttCaggtagccaagtccctgggg	13	11	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:41178062C>G	ENST00000587250.2	+	2	295	c.188C>G	c.(187-189)tCa>tGa	p.S63*	RND2_ENST00000544533.1_Nonsense_Mutation_p.S63*			P52198	RND2_HUMAN	Rho family GTPase 2	63					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGACACTTCAGGTAGCCAA	0.572																																																	0													84	72	76					17																	41178062		2203	4300	6503	SO:0001587	stop_gained	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.188C>G	17.37:g.41178062C>G	ENSP00000466680:p.Ser63*		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S63*	ENST00000587250.2	37	c.188	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.873192	0.97049	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	.	.	.	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.6987	0.62595	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000225973:S63X	S	+	2	0	RND2	38431588	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.274000	0.78538	2.204000	0.70986	0.555000	0.69702	TCA	RND2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.572	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	C	NM_005440		41178062	1	no_errors	ENST00000544533	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	41178062	C	G	41178062	4	3	13	1	0	0	0	0	0	1	0	0	13450	838	29	1	194	1	RND2	17	41178062	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	116629	41178062	40017148	710	2154										
ADAM11	4185	genome.wustl.edu	37	chr17	42851877	42851877	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cagtacggcaacatgggggcGatggccgtgacccttgccca	14	13	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:42851877G>A	ENST00000200557.6	+	13	1264	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	ADAM11_ENST00000535346.1_Silent_p.A165A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACATGGGGGCGATGGCCGTGA	0.637																																																	0													45	42	43					17																	42851877		2202	4300	6502	SO:0001819	synonymous_variant	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1095G>A	17.37:g.42851877G>A			Q14808|Q14809|Q14810	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A365	ENST00000200557.6	37	c.1095	CCDS11486.1	17																																																																																			ADAM11	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.637	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	G	NM_002390		42851877	1	no_errors	ENST00000200557	ensembl	human	known	70_37	silent	SNP	0.025	A	A	42851877	G	A	42851877	2	1	13	1	0	0	0	0	0	0	0	1	235	1045	37	1		1	ADAM11	17	42851877	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1673815	42851877	38343333	711	2155										
GJC1	10052	genome.wustl.edu	37	chr17	42882496	42882496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccatacattatcagaaggaaGatggtcttttcagtgggtct	10	7	4	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:42882496G>C	ENST00000426548.1	-	3	959	c.690C>G	c.(688-690)atC>atG	p.I230M	GJC1_ENST00000592524.1_Missense_Mutation_p.I230M|GJC1_ENST00000330514.4_Missense_Mutation_p.I230M|GJC1_ENST00000590758.1_Missense_Mutation_p.I230M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	230					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCAGAAGGAAGATGGTCTTTT	0.428																																																	0													121	117	118					17																	42882496		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.690C>G	17.37:g.42882496G>C	ENSP00000411528:p.Ile230Met		B3KW68|Q4VAY0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45	p.I230M	ENST00000426548.1	37	c.690	CCDS11487.1	17	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569912	0.45798	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97430	-4.38;-4.38	4.98	4.98	0.66077	Gap junction protein, cysteine-rich domain (1);	0.052891	0.64402	D	0.000001	D	0.98488	0.9496	H	0.94698	3.57	0.58432	D	0.999998	D	0.76494	0.999	D	0.74348	0.983	D	0.98900	1.0776	10	0.87932	D	0	.	6.329	0.21259	0.0977:0.0:0.7172:0.1851	.	230	P36383	CXG1_HUMAN	M	230	ENSP00000411528:I230M;ENSP00000333193:I230M	ENSP00000333193:I230M	I	-	3	3	GJC1	40238022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.116000	0.50399	2.465000	0.83290	0.514000	0.50259	ATC	GJC1	-	pfam_Connexin_CCC,prints_Connexin		0.428	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC1	HGNC	protein_coding	OTTHUMT00000448661.1	G	NM_005497		42882496	-1	no_errors	ENST00000330514	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42882496	G	C	42882496	3	2	13	1	0	0	0	0	1	0	0	0	6433	932	33	1	504	1	GJC1	17	42882496	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	30619	42882496	38312714	712	2156										
TTLL6	284076	genome.wustl.edu	37	chr17	46863559	46863559	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggtggcggccttgtctttCtgctgttgtttctgttgcca	13	9	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:46863559C>T	ENST00000393382.3	-	12	1869	c.1728G>A	c.(1726-1728)caG>caA	p.Q576Q	TTLL6_ENST00000433608.2_Silent_p.Q269Q	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTGTCTTTCTGCTGTTGTT	0.567																																																	0													383	359	367					17																	46863559		2203	4300	6503	SO:0001819	synonymous_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1728G>A	17.37:g.46863559C>T				Silent	SNP	pfam_Tub_tyr_ligase	p.Q576	ENST00000393382.3	37	c.1728	CCDS45724.1	17																																																																																			TTLL6	-	NULL		0.567	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	C	NM_173623		46863559	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	silent	SNP	0.010	T	T	46863559	C	T	46863559	2	4	13	1	0	0	0	0	0	0	0	1	16762	912	32	1		1	TTLL6	17	46863559	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3981063	46863559	34331651	713	2157										
FAM117A	81558	genome.wustl.edu	37	chr17	47795077	47795077	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccatcagggatatcaaggatCtaacggggaaggacggtaaa	13	7	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:47795077C>T	ENST00000240364.2	-	6	788		c.e6-1		RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_Splice_Site|FAM117A_ENST00000513602.1_Splice_Site	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A											haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TATCAAGGATCTAACGGGGAA	0.577																																																	0													52	52	52					17																	47795077		2203	4300	6503	SO:0001630	splice_region_variant	81558			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.709-1G>A	17.37:g.47795077C>T			B7Z7Q3	Splice_Site	SNP	-	e6-1	ENST00000240364.2	37	c.709-1	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482146	0.26598	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8157	0.70034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM117A	45150076	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.905000	0.69893	2.473000	0.83533	0.561000	0.74099	.	FAM117A	-	-		0.577	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	C	NM_030802	Intron	47795077	-1	no_errors	ENST00000240364	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	47795077	C	T	47795077	5	4	13	1	0	0	0	0	0	0	1	0	5424	927	32	1	665	1	FAM117A	17	47795077	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	931518	47795077	33400133	714	2158										
WFIKKN2	124857	genome.wustl.edu	37	chr17	48917592	48917592	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcaggctgcagccacctcaGagagcagccccaatggcacg	11	15	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:48917592G>C	ENST00000311378.4	+	2	1471	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222Q|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	315					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCACCTCAGAGAGCAGCCC	0.657																																																	0													49	44	46					17																	48917592		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.943G>C	17.37:g.48917592G>C	ENSP00000311184:p.Glu315Gln		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E315Q	ENST00000311378.4	37	c.943	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	g	9.569	1.120507	0.20877	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.81821	-1.54;-1.54	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.70613	0.3244	L	0.47716	1.5	0.29924	N	0.822476	P	0.42735	0.788	B	0.35931	0.214	T	0.69800	-0.5047	10	0.25751	T	0.34	.	10.8268	0.46638	0.1465:0.0:0.8535:0.0	.	315	Q8TEU8	WFKN2_HUMAN	Q	222;315	ENSP00000405889:E222Q;ENSP00000311184:E315Q	ENSP00000311184:E315Q	E	+	1	0	WFIKKN2	46272591	0.776000	0.28616	0.848000	0.33437	0.263000	0.26337	1.295000	0.33377	2.533000	0.85409	0.651000	0.88453	GAG	WFIKKN2	-	NULL		0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	G	NM_175575		48917592	1	no_errors	ENST00000311378	ensembl	human	known	70_37	missense	SNP	0.741	C	C	48917592	G	C	48917592	3	2	13	1	0	0	0	0	1	0	0	0	17390	943	33	1	949	1	WFIKKN2	17	48917592	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1122515	48917592	32277618	715	2159										
RNF43	54894	genome.wustl.edu	37	chr17	56435412	56435412	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ataggaggcctggactggggGactccggtttctgggccagg	18	9	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:56435412G>A	ENST00000584437.1	-	8	3680	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V	RNF43_ENST00000581868.1_Silent_p.V448V|RNF43_ENST00000577625.1_Silent_p.V448V|RNF43_ENST00000583753.1_Silent_p.V534V|RNF43_ENST00000500597.2_Silent_p.V534V|RNF43_ENST00000407977.2_Silent_p.V575V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.V575V			Q68DV7	RNF43_HUMAN	ring finger protein 43	575	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACTGGGGGACTCCGGTTT	0.622																																																	0													64	74	71					17																	56435412		2202	4300	6502	SO:0001819	synonymous_variant	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1725C>T	17.37:g.56435412G>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V575	ENST00000584437.1	37	c.1725	CCDS11607.1	17																																																																																			RNF43	-	NULL		0.622	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	G	NM_017763		56435412	-1	no_errors	ENST00000407977	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56435412	G	A	56435412	2	1	13	1	0	0	0	0	0	0	0	1	13525	1161	41	1		1	RNF43	17	56435412	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7517820	56435412	24759798	716	2160										
C17orf47	284083	genome.wustl.edu	37	chr17	56621168	56621168	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttcgtgctgcttcctctCtgggtggactaactttccat	8	13	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:56621168C>G	ENST00000321691.3	-	1	561	c.380G>C	c.(379-381)aGa>aCa	p.R127T	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	127										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTTCCTCTCTGGGTGGACT	0.517																																																	0													134	117	123					17																	56621168		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.380G>C	17.37:g.56621168C>G	ENSP00000354874:p.Arg127Thr		Q8N821	Missense_Mutation	SNP	NULL	p.R127T	ENST00000321691.3	37	c.380	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713805	0.30413	.	.	ENSG00000181013	ENST00000321691	T	0.35789	1.29	5.92	2.64	0.31445	.	0.166429	0.42172	D	0.000742	T	0.22627	0.0546	N	0.20986	0.625	0.09310	N	1	B	0.26195	0.144	B	0.27715	0.082	T	0.17018	-1.0383	10	0.54805	T	0.06	-4.9169	7.1844	0.25791	0.0:0.6752:0.1544:0.1704	.	127	Q8NEP4	CQ047_HUMAN	T	127	ENSP00000354874:R127T	ENSP00000354874:R127T	R	-	2	0	C17orf47	53976167	0.075000	0.21258	0.098000	0.21074	0.014000	0.08584	-0.014000	0.12656	0.860000	0.35481	0.655000	0.94253	AGA	C17orf47	-	NULL		0.517	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	C	NM_001038704		56621168	-1	no_errors	ENST00000321691	ensembl	human	known	70_37	missense	SNP	0.067	G	G	56621168	C	G	56621168	3	3	13	1	0	0	0	0	1	0	0	0	1862	913	32	1	1340	1	C17orf47	17	56621168	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	185756	56621168	24574042	717	2161										
USP32	84669	genome.wustl.edu	37	chr17	58260600	58260600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcacgtcctcttccccagccGaactctgcgcatccactttc	6	19	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:58260600G>A	ENST00000300896.4	-	31	4243	c.4049C>T	c.(4048-4050)tCg>tTg	p.S1350L	USP32_ENST00000592339.1_Missense_Mutation_p.S1020L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1350	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTCCCCAGCCGAACTCTGCGC	0.592																																																	0													74	69	71					17																	58260600		2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4049C>T	17.37:g.58260600G>A	ENSP00000300896:p.Ser1350Leu		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.S1350L	ENST00000300896.4	37	c.4049	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084713	0.36758	.	.	ENSG00000170832	ENST00000300896	T	0.45276	0.9	5.79	5.79	0.91817	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.795771	0.11989	N	0.509979	T	0.31231	0.0790	N	0.17082	0.46	0.80722	D	1	B	0.23591	0.088	B	0.16722	0.016	T	0.10636	-1.0621	10	0.18710	T	0.47	.	18.2173	0.89890	0.0:0.0:1.0:0.0	.	1350	Q8NFA0	UBP32_HUMAN	L	1350	ENSP00000300896:S1350L	ENSP00000300896:S1350L	S	-	2	0	USP32	55615382	0.938000	0.31826	0.559000	0.28332	0.707000	0.40811	4.989000	0.63870	2.741000	0.93983	0.557000	0.71058	TCG	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.592	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	G	NM_032582		58260600	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	0.293	A	A	58260600	G	A	58260600	3	1	13	1	0	0	0	0	1	0	0	0	17094	1059	37	1	781	1	USP32	17	58260600	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1639432	58260600	22934610	718	2162										
MED13	9969	genome.wustl.edu	37	chr17	60038353	60038353	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaaaaagaacattatatttCtgtccagcttctccaaatgt	4	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:60038353C>G	ENST00000397786.2	-	23	5431	c.5355G>C	c.(5353-5355)caG>caC	p.Q1785H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1785					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATTATATTTCTGTCCAGCTT	0.388																																																	0													134	121	125					17																	60038353		1839	4094	5933	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5355G>C	17.37:g.60038353C>G	ENSP00000380888:p.Gln1785His		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q1785H	ENST00000397786.2	37	c.5355	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187139	0.57909	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83419	-1.72	5.31	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.81914	0.995	D	0.87715	0.2569	10	0.54805	T	0.06	-2.5042	10.1554	0.42820	0.0:0.8477:0.0:0.1523	.	1785	Q9UHV7	MED13_HUMAN	H	1785;1784	ENSP00000380888:Q1785H	ENSP00000262436:Q1784H	Q	-	3	2	MED13	57393135	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.847000	0.48270	1.245000	0.43885	-0.154000	0.13518	CAG	MED13	-	pfam_Mediator_Med13		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60038353	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60038353	C	G	60038353	3	3	13	1	0	0	0	0	1	0	0	0	9453	912	32	1	1201	1	MED13	17	60038353	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1777753	60038353	21156857	719	2163										
MARCH10	162333	genome.wustl.edu	37	chr17	60814461	60814461	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcctacagtggtgggtgtGagtggtggccccgagaactc	15	11	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:60814461G>C	ENST00000311269.5	-	6	1042	c.768C>G	c.(766-768)ctC>ctG	p.L256L	RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Silent_p.L255L|MARCH10_ENST00000456609.2_Silent_p.L256L|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.L294L	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	256					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGGTGGGTGTGAGTGGTGGCC	0.498																																																	0													115	117	116					17																	60814461		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.768C>G	17.37:g.60814461G>C			D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L256	ENST00000311269.5	37	c.768	CCDS11635.1	17																																																																																			MARCH10	-	NULL		0.498	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	G	NM_152598		60814461	-1	no_errors	ENST00000311269	ensembl	human	known	70_37	silent	SNP	0.000	C	C	60814461	G	C	60814461	2	2	13	1	0	0	0	0	0	0	0	1	9322	1277	45	1		1	MARCH10	17	60814461	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	776108	60814461	20380749	720	2164										
MAP3K3	4215	genome.wustl.edu	37	chr17	61771015	61771015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccacccagcccaccaatcctCagctgccctcccacatctct	3	23	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:61771015C>A	ENST00000361733.3	+	16	2079	c.1759C>A	c.(1759-1761)Cag>Aag	p.Q587K	MAP3K3_ENST00000579585.1_Missense_Mutation_p.Q618K|MAP3K3_ENST00000361357.3_Missense_Mutation_p.Q618K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.Q614K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.Q583K	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACCAATCCTCAGCTGCCCTC	0.582																																																	0													127	107	114					17																	61771015		2203	4300	6503	SO:0001583	missense	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1759C>A	17.37:g.61771015C>A	ENSP00000354485:p.Gln587Lys		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q618K	ENST00000361733.3	37	c.1852	CCDS32702.1	17	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080830	0.20309	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.64438	-0.1;-0.1	5.15	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248799	0.41500	D	0.000880	T	0.42854	0.1221	N	0.11131	0.1	0.54753	D	0.999982	B;B;B;B	0.14012	0.009;0.009;0.009;0.004	B;B;B;B	0.18263	0.021;0.014;0.021;0.012	T	0.39941	-0.9589	10	0.07030	T	0.85	.	18.6362	0.91379	0.0:1.0:0.0:0.0	.	583;555;587;618	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	K	618;587	ENSP00000354927:Q618K;ENSP00000354485:Q587K	ENSP00000354927:Q618K	Q	+	1	0	MAP3K3	59124747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.859000	0.55987	2.407000	0.81776	0.561000	0.74099	CAG	MAP3K3	-	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		0.582	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	MAP3K3	HGNC	protein_coding	OTTHUMT00000443867.1	C	NM_002401		61771015	1	no_errors	ENST00000361357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61771015	C	A	61771015	3	1	13	1	0	0	0	0	1	0	0	0	9274	827	29	3	1918	3	MAP3K3	17	61771015	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	956554	61771015	19424195	721	2165										
SMARCD2	6603	genome.wustl.edu	37	chr17	61910333	61910333	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcccagcacctgttccagttCctgccttcgctgctgcacct	7	18	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:61910333C>A	ENST00000448276.2	-	13	1826	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*	FTSJ3_ENST00000580295.1_5'Flank|SMARCD2_ENST00000323347.10_Nonsense_Mutation_p.E473*|SMARCD2_ENST00000225742.9_Nonsense_Mutation_p.E446*	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	521					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGTTCCAGTTCCTGCCTTCGC	0.592																																																	0													39	47	45					17																	61910333		1970	4162	6132	SO:0001587	stop_gained	6603			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1561G>T	17.37:g.61910333C>A	ENSP00000392617:p.Glu521*		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Nonsense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.E521*	ENST00000448276.2	37	c.1561	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	21.8	4.201127	0.79015	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	.	.	.	5.87	5.87	0.94306	.	0.111589	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.6478	17.6998	0.88291	0.0:1.0:0.0:0.0	.	.	.	.	X	521;463;484;473	.	ENSP00000225742:E463X	E	-	1	0	SMARCD2	59264065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.070000	0.71220	2.785000	0.95823	0.655000	0.94253	GAA	SMARCD2	-	NULL		0.592	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	C	NM_001098426		61910333	-1	no_errors	ENST00000448276	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	61910333	C	A	61910333	4	1	13	1	0	0	0	0	0	1	0	0	14808	864	30	3	38	3	SMARCD2	17	61910333	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	139318	61910333	19284877	722	2166										
CCDC45	90799	genome.wustl.edu	37	chr17	62517642	62517642	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtaggacatcctttgttgaaGacagtgagttgtaatggatg	13	4	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:62517642G>C	ENST00000556440.2	+	7	1222	c.712G>C	c.(712-714)Gac>Cac	p.D238H	CEP95_ENST00000553412.1_Missense_Mutation_p.D74H	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	238						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CTTTGTTGAAGACAGTGAGTT	0.383																																																	0													100	91	93					17																	62517642		1897	4120	6017	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.712G>C	17.37:g.62517642G>C	ENSP00000450461:p.Asp238His		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.D238H	ENST00000556440.2	37	c.712	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009905	0.54361	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.33216	1.42;1.46	4.3	4.3	0.51218	.	1.016190	0.07838	N	0.962582	T	0.33990	0.0882	L	0.44542	1.39	0.29700	N	0.840209	P	0.40107	0.703	B	0.42593	0.392	T	0.17776	-1.0358	10	0.48119	T	0.1	-5.634	12.5801	0.56386	0.0:0.0:1.0:0.0	.	238	Q96GE4	CEP95_HUMAN	H	173;238;74	ENSP00000450461:D238H;ENSP00000450906:D74H	ENSP00000438458:D173H	D	+	1	0	CEP95	59948104	0.977000	0.34250	0.699000	0.30290	0.005000	0.04900	1.437000	0.34991	2.673000	0.90976	0.650000	0.86243	GAC	CEP95	-	NULL		0.383	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62517642	1	no_errors	ENST00000556440	ensembl	human	known	70_37	missense	SNP	0.780	C	C	62517642	G	C	62517642	3	2	13	1	0	0	0	0	1	0	0	0	2821	942	33	1	738	1	CCDC45	17	62517642	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	607309	62517642	18677568	723	2167										
BPTF	2186	genome.wustl.edu	37	chr17	65888035	65888035	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggaaaaggagcatctggctCaactcgaatcatcaccagat	9	10	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:65888035C>G	ENST00000321892.4	+	7	2379	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.S634*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.S773*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.S647*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	773					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCATCTGGCTCAACTCGAATC	0.468																																																	0													72	68	69					17																	65888035		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2318C>G	17.37:g.65888035C>G	ENSP00000315454:p.Ser773*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S773*	ENST00000321892.4	37	c.2318		17	.	.	.	.	.	.	.	.	.	.	C	33	5.246646	0.95305	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.5827	19.2038	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	678;647;773;773;571	.	ENSP00000307208:S647X	S	+	2	0	BPTF	63318497	1.000000	0.71417	0.988000	0.46212	0.136000	0.21042	5.980000	0.70516	2.585000	0.87301	0.655000	0.94253	TCA	BPTF	-	NULL		0.468	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65888035	1	no_errors	ENST00000321892	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	65888035	C	G	65888035	4	3	13	1	0	0	0	0	0	1	0	0	1498	838	29	1	2344	1	BPTF	17	65888035	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3370393	65888035	15307175	724	2168										
BPTF	2186	genome.wustl.edu	37	chr17	65907505	65907505	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caaaagatcgagtgttagatGatgtctccattcggagccca	10	9	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:65907505G>A	ENST00000321892.4	+	13	3944	c.3883G>A	c.(3883-3885)Gat>Aat	p.D1295N	BPTF_ENST00000424123.3_Missense_Mutation_p.D1156N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1295N|BPTF_ENST00000306378.6_Missense_Mutation_p.D1169N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1295					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTGTTAGATGATGTCTCCAT	0.398																																																	0													57	55	56					17																	65907505		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3883G>A	17.37:g.65907505G>A	ENSP00000315454:p.Asp1295Asn		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D1295N	ENST00000321892.4	37	c.3883		17	.	.	.	.	.	.	.	.	.	.	G	8.638	0.895359	0.17613	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62941	-0.01;-0.01;-0.01	6.05	4.9	0.64082	.	.	.	.	.	T	0.50888	0.1642	N	0.24115	0.695	0.19300	N	0.999978	P;P	0.41848	0.763;0.763	B;B	0.42282	0.382;0.382	T	0.38415	-0.9662	9	0.24483	T	0.36	-17.0039	13.9158	0.63897	0.1228:0.0:0.8772:0.0	.	1169;1295	Q12830-2;Q12830-4	.;.	N	1169;1295;1295	ENSP00000307208:D1169N;ENSP00000334351:D1295N;ENSP00000315454:D1295N	ENSP00000307208:D1169N	D	+	1	0	BPTF	63337967	0.985000	0.35326	0.963000	0.40424	0.006000	0.05464	3.259000	0.51515	2.878000	0.98634	0.650000	0.86243	GAT	BPTF	-	NULL		0.398	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65907505	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.232	A	A	65907505	G	A	65907505	3	1	13	1	0	0	0	0	1	0	0	0	1498	1290	45	1	3933	1	BPTF	17	65907505	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	19470	65907505	15287705	725	2169										
SDK2	54549	genome.wustl.edu	37	chr17	71354291	71354291	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgctggaccagtgaatggcGatggcagagctgtaccgcac	14	12	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:71354291G>A	ENST00000392650.3	-	40	5520	c.5520C>T	c.(5518-5520)atC>atT	p.I1840I	SDK2_ENST00000388726.3_Silent_p.I1821I|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1840	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGTGAATGGCGATGGCAGAGC	0.657																																																	0													144	131	135					17																	71354291		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5520C>T	17.37:g.71354291G>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1840	ENST00000392650.3	37	c.5520	CCDS45769.1	17																																																																																			SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	G	NM_019064		71354291	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	silent	SNP	0.999	A	A	71354291	G	A	71354291	2	1	13	1	0	0	0	0	0	0	0	1	13999	1048	37	1		1	SDK2	17	71354291	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5446786	71354291	9840919	726	2170										
FADS6	283985	genome.wustl.edu	37	chr17	72878727	72878727	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aacatgtagacatagcggttGaggcaaggcagcctccacgt	12	10	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:72878727G>A	ENST00000310226.6	-	3	485	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	163					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CATAGCGGTTGAGGCAAGGCA	0.622																																																	0													99	109	105					17																	72878727		2192	4282	6474	SO:0001819	synonymous_variant	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.471C>T	17.37:g.72878727G>A			Q17RQ7|Q6XYE1	Silent	SNP	pfam_Fatty_acid_desaturase-1	p.L157	ENST00000310226.6	37	c.471	CCDS54163.1	17	.	.	.	.	.	.	.	.	.	.	G	4.326	0.059847	0.08339	.	.	ENSG00000172782	ENST00000413142	.	.	.	5.15	4.11	0.48088	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	P	0.48162	0.906	P	0.49999	0.628	T	0.57075	-0.7873	6	.	.	.	-51.0371	9.8104	0.40820	0.0:0.2148:0.668:0.1172	.	74	B4DEP0	.	L	74	.	.	S	-	2	0	FADS6	70390322	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.950000	0.40323	2.393000	0.81446	0.655000	0.94253	TCA	FADS6	-	pfam_Fatty_acid_desaturase-1		0.622	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	G			72878727	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72878727	G	A	72878727	2	1	13	1	0	0	0	0	0	0	0	1	5383	1277	45	1		1	FADS6	17	72878727	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1524436	72878727	8316483	727	2171										
GGA3	23163	genome.wustl.edu	37	chr17	73236104	73236104	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctgcttgaggagggggctGagggctggagcagaggagca	21	6	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:73236104G>T	ENST00000245541.6	-	13	1565	c.1349C>A	c.(1348-1350)tCa>tAa	p.S450*	GGA3_ENST00000538886.1_Nonsense_Mutation_p.S328*|GGA3_ENST00000578348.1_Nonsense_Mutation_p.S328*|GGA3_ENST00000351904.7_Nonsense_Mutation_p.S417*|GGA3_ENST00000582717.1_Nonsense_Mutation_p.S378*|GGA3_ENST00000582486.1_Nonsense_Mutation_p.S378*	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	450	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGGGGGCTGAGGGCTGGAG	0.657																																																	0													17	19	18					17																	73236104		2132	4192	6324	SO:0001587	stop_gained	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1349C>A	17.37:g.73236104G>T	ENSP00000245541:p.Ser450*		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.S450*	ENST00000245541.6	37	c.1349	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.980813	0.97168	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	.	.	.	4.74	3.76	0.43208	.	1.128510	0.06644	N	0.761577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.606	12.2789	0.54753	0.0821:0.0:0.9179:0.0	.	.	.	.	X	450;417;378;328	.	ENSP00000245541:S450X	S	-	2	0	GGA3	70747699	0.865000	0.29922	0.009000	0.14445	0.003000	0.03518	5.429000	0.66495	2.181000	0.69327	0.591000	0.81541	TCA	GGA3	-	NULL		0.657	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	G	NM_138619		73236104	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	nonsense	SNP	0.025	T	T	73236104	G	T	73236104	4	4	13	1	0	0	0	0	0	1	0	0	6373	1294	45	3	930	3	GGA3	17	73236104	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	357377	73236104	7959106	728	2172										
GGA3	23163	genome.wustl.edu	37	chr17	73237521	73237521	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaggtagccacctcgccattGatgacctgcccttcaataat	7	13	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:73237521G>C	ENST00000245541.6	-	10	1122	c.906C>G	c.(904-906)atC>atG	p.I302M	GGA3_ENST00000538886.1_Missense_Mutation_p.I180M|GGA3_ENST00000578348.1_Missense_Mutation_p.I180M|GGA3_ENST00000351904.7_Missense_Mutation_p.I269M|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000582717.1_Missense_Mutation_p.I230M|GGA3_ENST00000582486.1_Missense_Mutation_p.I230M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	302	Binds to ARF1 (in long isoform).|Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCTCGCCATTGATGACCTGCC	0.542																																																	0													157	140	146					17																	73237521		2203	4300	6503	SO:0001583	missense	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.906C>G	17.37:g.73237521G>C	ENSP00000245541:p.Ile302Met		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.I302M	ENST00000245541.6	37	c.906	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575865	0.28092	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.47177	2.21;0.85	4.88	2.9	0.33743	.	0.468250	0.24783	N	0.035626	T	0.51415	0.1673	L	0.51422	1.61	0.80722	D	1	P;B;B	0.50819	0.939;0.039;0.071	P;B;B	0.53006	0.715;0.098;0.114	T	0.52675	-0.8544	10	0.46703	T	0.11	-25.9768	11.6718	0.51406	0.1515:0.0:0.8485:0.0	.	180;269;302	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	302;269;230;180	ENSP00000245541:I302M;ENSP00000326575:I269M	ENSP00000245541:I302M	I	-	3	3	GGA3	70749116	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.309000	0.43699	1.414000	0.47017	0.655000	0.94253	ATC	GGA3	-	NULL		0.542	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	G	NM_138619		73237521	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73237521	G	C	73237521	3	2	13	1	0	0	0	0	1	0	0	0	6373	1280	45	1	1385	1	GGA3	17	73237521	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1417	73237521	7957689	729	2173										
DNAH17	8632	genome.wustl.edu	37	chr17	76501392	76501392	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cacctgccccgagaggtcgcAttcctgatcaaaaaccatgt	8	14	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:76501392A>T	ENST00000585328.1	-	31	5054	c.4930T>A	c.(4930-4932)Tgc>Agc	p.C1644S	DNAH17_ENST00000389840.5_Missense_Mutation_p.C1643S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1643	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			GAGAGGTCGCATTCCTGATCA	0.577																																																	0													76	76	76					17																	76501392		2115	4234	6349	SO:0001583	missense	8632			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.4930T>A	17.37:g.76501392A>T	ENSP00000465516:p.Cys1644Ser		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.C1643S	ENST00000585328.1	37	c.4927		17	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637933	0.47049	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.60920	0.15	4.02	4.02	0.46733	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.72637	0.3485	M	0.82433	2.59	0.44728	D	0.997726	P	0.50369	0.934	P	0.56788	0.806	T	0.78259	-0.2273	9	0.87932	D	0	.	13.1032	0.59233	1.0:0.0:0.0:0.0	.	1643	Q9UFH2	DYH17_HUMAN	S	1644;1643	ENSP00000374490:C1643S	ENSP00000300671:C1644S	C	-	1	0	DNAH17	74012987	1.000000	0.71417	0.052000	0.19188	0.051000	0.14879	6.775000	0.75018	1.669000	0.50854	0.454000	0.30748	TGC	DNAH17	-	pfam_Dynein_heavy_dom-2		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	A	NM_173628		76501392	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	0.993	T	T	76501392	A	T	76501392	3	4	13	1	0	0	0	0	1	0	0	0	4611	217	8	5	8653	5	DNAH17	17	76501392	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	3263871	76501392	4693818	730	2174										
RNF213	57674	genome.wustl.edu	37	chr17	78336962	78336962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagcggcgtcagaagcgcccGaggaagaggtttccttaccg	14	11	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:78336962G>A	ENST00000582970.1	+	40	11559	c.11416G>A	c.(11416-11418)Gag>Aag	p.E3806K	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E3855K|RNF213_ENST00000336301.6_Missense_Mutation_p.E1879K|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3806					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGCGCCCGAGGAAGAGGT	0.473																																																	0													68	71	70					17																	78336962		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11416G>A	17.37:g.78336962G>A	ENSP00000464087:p.Glu3806Lys		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E3806K	ENST00000582970.1	37	c.11416	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728936	0.48833	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22539	1.95	5.59	3.52	0.40303	.	0.597392	0.18090	N	0.152005	T	0.27559	0.0677	M	0.70595	2.14	0.09310	N	1	P;P	0.52170	0.951;0.935	B;B	0.42738	0.396;0.222	T	0.13791	-1.0496	10	0.29301	T	0.29	.	15.899	0.79359	0.0:0.2563:0.7437:0.0	.	3855;1879	C9JCP4;Q63HN8	.;RN213_HUMAN	K	3806;3855;1879	ENSP00000338218:E1879K	ENSP00000338218:E1879K	E	+	1	0	RNF213	75951557	0.989000	0.36119	0.003000	0.11579	0.025000	0.11179	2.745000	0.47459	0.660000	0.30964	0.655000	0.94253	GAG	RNF213	-	NULL		0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78336962	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.008	A	A	78336962	G	A	78336962	3	1	13	1	0	0	0	0	1	0	0	0	13507	1059	37	1	11889	1	RNF213	17	78336962	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1835570	78336962	2858248	731	2175										
ACTG1	71	genome.wustl.edu	37	chr17	79478443	79478443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagcctcgctcagtgaggatCttcatgaggtagtcggtcag	13	9	4	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79478443C>T	ENST00000575842.1	-	3	999	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ACTG1_ENST00000331925.2_Silent_p.K191K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.K191K|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Silent_p.K191K			P63261	ACTG_HUMAN	actin, gamma 1	191					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CAGTGAGGATCTTCATGAGGT	0.642																																																	0													51	53	52					17																	79478443		2203	4300	6503	SO:0001819	synonymous_variant	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.573G>A	17.37:g.79478443C>T			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.K191	ENST00000575842.1	37	c.573	CCDS11782.1	17																																																																																			ACTG1	-	pfam_Actin-like,smart_Actin-like		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79478443	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	silent	SNP	1.000	T	T	79478443	C	T	79478443	2	4	13	1	0	0	0	0	0	0	0	1	196	912	32	1		1	ACTG1	17	79478443	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1141481	79478443	1716767	732	2176										
ACTG1	71	genome.wustl.edu	37	chr17	79479369	79479369	+	Silent	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcaatgaccagcgcggcgatCtcttcttccattgcgacctg					rs201579883		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79479369C>T	ENST00000575842.1	-	1	438	c.12G>A	c.(10-12)gaG>gaA	p.E4E	ACTG1_ENST00000331925.2_Silent_p.E4E|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.E4E|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Silent_p.E4E			P63261	ACTG_HUMAN	actin, gamma 1	4					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGCGGCGATCTCTTCTTCCA	0.637																																																	0													79	86	83					17																	79479369		2203	4300	6503	SO:0001819	synonymous_variant	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.12G>A	17.37:g.79479369C>T			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E4	ENST00000575842.1	37	c.12	CCDS11782.1	17																																																																																			ACTG1	-	pfam_Actin-like		0.637	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79479369	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	silent	SNP	1.000	T	T	79479369	C	T	79479369	2	4	13	1	0	0	0	0	0	0	0	1	196	912	32	1		1	ACTG1	17	79479369	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	926	79479369	1715841	733	2177	10	2								
ACTG1	71	genome.wustl.edu	37	chr17	79479374	79479374	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaccagcgcggcgatctcttCttccattgcgacctgcccgg							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79479374C>T	ENST00000575842.1	-	1	433	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ACTG1_ENST00000331925.2_Missense_Mutation_p.E3K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.E3K|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E3K			P63261	ACTG_HUMAN	actin, gamma 1	3					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGATCTCTTCTTCCATTGCG	0.627																																																	0													76	83	81					17																	79479374		2203	4300	6503	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.7G>A	17.37:g.79479374C>T	ENSP00000458162:p.Glu3Lys		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E3K	ENST00000575842.1	37	c.7	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141801	0.37825	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94650	-3.48	3.85	2.88	0.33553	.	0.242632	0.32753	U	0.005684	D	0.94696	0.8289	M	0.91249	3.19	0.49389	D	0.999789	B	0.17268	0.021	B	0.22152	0.038	D	0.92767	0.6229	10	0.87932	D	0	.	10.1659	0.42879	0.0:0.899:0.0:0.101	.	3	P63261	ACTG_HUMAN	K	3	ENSP00000331514:E3K	ENSP00000331514:E3K	E	-	1	0	ACTG1	77093969	1.000000	0.71417	0.992000	0.48379	0.631000	0.37964	7.018000	0.76406	0.828000	0.34709	0.563000	0.77884	GAA	ACTG1	-	pfam_Actin-like		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79479374	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79479374	C	T	79479374	3	4	13	1	0	0	0	0	1	0	0	0	196	922	32	1	1140	1	ACTG1	17	79479374	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5	79479374	1715836	734	2178	10	2								
C17orf70	80233	genome.wustl.edu	37	chr17	79516320	79516320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctggctgggccaggcatctCagagtccaggtccaggctgc	14	14	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79516320C>G	ENST00000327787.8	-	4	1361	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.E288Q			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	439					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCAGGCATCTCAGAGTCCAGG	0.592																																																	0													52	48	49					17																	79516320		2203	4300	6503	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1315G>C	17.37:g.79516320C>G	ENSP00000333283:p.Glu439Gln		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.E439Q	ENST00000327787.8	37	c.1315	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931070	0.52866	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246	T;T	0.36340	1.26;1.26	5.17	0.856	0.19019	.	0.234553	0.33457	N	0.004886	T	0.31071	0.0785	M	0.64997	1.995	0.09310	N	1	P	0.36535	0.557	B	0.33521	0.165	T	0.17684	-1.0361	10	0.66056	D	0.02	.	8.9289	0.35657	0.0:0.6939:0.0:0.3061	.	439	Q0VG06	FP100_HUMAN	Q	439;288;288	ENSP00000333283:E439Q;ENSP00000440151:E288Q	ENSP00000333283:E439Q	E	-	1	0	C17orf70	77126762	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	1.058000	0.30504	-0.047000	0.13423	0.650000	0.86243	GAG	C17orf70	-	NULL		0.592	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	C	NM_025161		79516320	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.001	G	G	79516320	C	G	79516320	3	3	13	1	0	0	0	0	1	0	0	0	1881	835	29	1	1354	1	C17orf70	17	79516320	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	36946	79516320	1678890	735	2179										
CSNK1D	1453	genome.wustl.edu	37	chr17	80209270	80209270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttacaaatttgagcatgttCcagtcgaacacgtagtcata	7	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:80209270C>A	ENST00000314028.6	-	6	1219	c.870G>T	c.(868-870)tgG>tgT	p.W290C	CSNK1D_ENST00000398519.5_Missense_Mutation_p.W290C|CSNK1D_ENST00000392334.2_Missense_Mutation_p.W290C|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	290	Centrosomal localization signal (CLS).				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)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TGAGCATGTTCCAGTCGAACA	0.562																																																	0													86	73	77					17																	80209270		2203	4300	6503	SO:0001583	missense	1453				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.870G>T	17.37:g.80209270C>A	ENSP00000324464:p.Trp290Cys		A2I2P2|Q96KZ6|Q9BTN5	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.W290C	ENST00000314028.6	37	c.870	CCDS11805.1	17	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990073	0.54041	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T	0.26660	1.72;1.72	5.43	5.43	0.79202	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.996;0.991	T	0.54997	-0.8209	10	0.87932	D	0	.	18.2475	0.89991	0.0:1.0:0.0:0.0	.	179;290;290;233	B4DIJ9;P48730;P48730-2;B4E0G1	.;KC1D_HUMAN;.;.	C	290;290;233;182	ENSP00000324464:W290C;ENSP00000376146:W290C	ENSP00000269361:W182C	W	-	3	0	CSNK1D	77802559	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.557000	0.86248	0.655000	0.94253	TGG	CSNK1D	-	superfamily_Kinase-like_dom		0.562	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	HGNC	protein_coding	OTTHUMT00000442632.1	C	NM_139062		80209270	-1	no_errors	ENST00000314028	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80209270	C	A	80209270	3	1	13	1	0	0	0	0	1	0	0	0	3957	856	30	3	430	3	CSNK1D	17	80209270	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	692950	80209270	985940	736	2180										
ZNF750	79755	genome.wustl.edu	37	chr17	80790291	80790291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcctggaggcctggggatgtAatgtggcttttttggcttcc	14	8	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:80790291A>C	ENST00000269394.3	-	2	873	c.40T>G	c.(40-42)Tac>Gac	p.Y14D	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	14					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGGGATGTAATGTGGCTTT	0.473																																																	0													81	88	86					17																	80790291		2199	4297	6496	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.40T>G	17.37:g.80790291A>C	ENSP00000269394:p.Tyr14Asp		Q9H899	Missense_Mutation	SNP	NULL	p.Y14D	ENST00000269394.3	37	c.40	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486721	0.84854	.	.	ENSG00000141579	ENST00000269394	T	0.58358	0.34	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000011	T	0.72244	0.3436	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73610	-0.3928	9	.	.	.	-33.9146	15.3545	0.74418	1.0:0.0:0.0:0.0	.	14	Q32MQ0	ZN750_HUMAN	D	14	ENSP00000269394:Y14D	.	Y	-	1	0	ZNF750	78383580	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	9.160000	0.94734	2.214000	0.71695	0.533000	0.62120	TAC	ZNF750	-	NULL		0.473	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	A	NM_024702		80790291	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80790291	A	C	80790291	3	2	13	1	0	0	0	0	1	0	0	0	18162	362	13	5	2139	5	ZNF750	17	80790291	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	581021	80790291	404919	737	2181										
NDC80	10403	genome.wustl.edu	37	chr18	2608732	2608732	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aggatgaaaaatgtgccagtGagcttgagtccttggagaaa	13	5	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:2608732G>C	ENST00000261597.4	+	15	1773	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	531	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATGTGCCAGTGAGCTTGAGTC	0.428																																																	0													115	108	110					18																	2608732		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1591G>C	18.37:g.2608732G>C	ENSP00000261597:p.Glu531Gln		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E531Q	ENST00000261597.4	37	c.1591	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495519	0.85069	.	.	ENSG00000080986	ENST00000261597	T	0.42131	0.98	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.58160	-0.7685	10	0.29301	T	0.29	-15.0647	19.0474	0.93027	0.0:0.0:1.0:0.0	.	531	O14777	NDC80_HUMAN	Q	531	ENSP00000261597:E531Q	ENSP00000261597:E531Q	E	+	1	0	NDC80	2598732	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	6.297000	0.72757	2.600000	0.87896	0.491000	0.48974	GAG	NDC80	-	superfamily_t-SNARE		0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2608732	1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2608732	G	C	2608732	3	2	13	1	0	0	0	0	1	0	0	0	10266	1291	45	1	1645	1	NDC80	18	2608732	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		2608732	75468516	738	2182										
LAMA1	284217	genome.wustl.edu	37	chr18	7043261	7043261	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atatccatcaatacaggtttCacagttgattcccatggtgt	7	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:7043261C>T	ENST00000389658.3	-	8	1213	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	374	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E374K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATACAGGTTTCACAGTTGATT	0.408																																																	1	Substitution - Missense(1)	lung(1)											256	234	242					18																	7043261		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1120G>A	18.37:g.7043261C>T	ENSP00000374309:p.Glu374Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E374K	ENST00000389658.3	37	c.1120	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550062	0.86127	.	.	ENSG00000101680	ENST00000389658	T	0.65178	-0.14	5.76	4.87	0.63330	EGF-like, laminin (4);	0.055265	0.64402	D	0.000001	D	0.86781	0.6015	H	0.98027	4.13	0.58432	D	0.999993	D	0.69078	0.997	D	0.70487	0.969	D	0.92191	0.5759	10	0.72032	D	0.01	.	17.0129	0.86411	0.0:0.8726:0.1274:0.0	.	374	P25391	LAMA1_HUMAN	K	374	ENSP00000374309:E374K	ENSP00000374309:E374K	E	-	1	0	LAMA1	7033261	1.000000	0.71417	0.994000	0.49952	0.800000	0.45204	4.002000	0.57053	1.525000	0.49052	0.650000	0.86243	GAA	LAMA1	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7043261	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7043261	C	T	7043261	3	4	13	1	0	0	0	0	1	0	0	0	8625	835	29	1	8331	1	LAMA1	18	7043261	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4434529	7043261	71033987	739	2183										
ANKRD12	23253	genome.wustl.edu	37	chr18	9255252	9255252	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcataaagagagggaaaaaGaaaagcataaaaaagaaatt	9	2	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:9255252G>T	ENST00000262126.4	+	9	2227	c.1987G>T	c.(1987-1989)Gaa>Taa	p.E663*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E640*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E640*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	663						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						gagggaaaaagaaaagcataa	0.299																																																	0													42	47	45					18																	9255252		2192	4281	6473	SO:0001587	stop_gained	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1987G>T	18.37:g.9255252G>T	ENSP00000262126:p.Glu663*		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E663*	ENST00000262126.4	37	c.1987	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.724038	0.97792	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	.	.	.	5.06	5.06	0.68205	.	0.119181	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.1496	18.7884	0.91964	0.0:0.0:1.0:0.0	.	.	.	.	X	640;663;370	.	ENSP00000262126:E663X	E	+	1	0	ANKRD12	9245252	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.311000	0.96282	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255252	1	no_errors	ENST00000262126	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	9255252	G	T	9255252	4	4	13	1	0	0	0	0	0	1	0	0	640	943	33	3	2017	3	ANKRD12	18	9255252	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2211991	9255252	68821996	740	2184										
ANKRD12	23253	genome.wustl.edu	37	chr18	9255426	9255426	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aacatgaatccttaacattaGaaaaaaaatcaaaattggaa	4	5	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:9255426G>C	ENST00000262126.4	+	9	2401	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E698Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E698Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTAACATTAGAAAAAAAATC	0.289																																																	0													28	30	29					18																	9255426		2143	4226	6369	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2161G>C	18.37:g.9255426G>C	ENSP00000262126:p.Glu721Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E721Q	ENST00000262126.4	37	c.2161	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253554	0.39797	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92397	-3.03;-3.03	5.06	5.06	0.68205	.	0.331509	0.30528	N	0.009436	D	0.94640	0.8272	L	0.57536	1.79	0.36889	D	0.889782	D;D;P	0.76494	0.999;0.996;0.935	D;P;P	0.65443	0.935;0.892;0.575	D	0.94400	0.7622	10	0.29301	T	0.29	-14.4551	18.7884	0.91964	0.0:0.0:1.0:0.0	.	348;698;721	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	698;721;428;16	ENSP00000372932:E698Q;ENSP00000262126:E721Q	ENSP00000262126:E721Q	E	+	1	0	ANKRD12	9245426	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	5.303000	0.65738	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255426	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255426	G	C	9255426	3	2	13	1	0	0	0	0	1	0	0	0	640	943	33	1	2191	1	ANKRD12	18	9255426	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	174	9255426	68821822	741	2185										
ANKRD12	23253	genome.wustl.edu	37	chr18	9256059	9256059	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcaaagaaaagcacttgatgGagaaaaaaaataaacaatca	7	5	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:9256059G>C	ENST00000262126.4	+	9	3034	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E909Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E909Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	932						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCACTTGATGGAGAAAAAAAA	0.328																																																	0													33	34	33					18																	9256059		2190	4282	6472	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2794G>C	18.37:g.9256059G>C	ENSP00000262126:p.Glu932Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E932Q	ENST00000262126.4	37	c.2794	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	12.91	2.077994	0.36662	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.35605	1.3;1.3	5.18	5.18	0.71444	.	0.229913	0.43919	D	0.000505	T	0.32376	0.0827	L	0.27053	0.805	0.29137	N	0.879254	P;P	0.39216	0.664;0.534	B;B	0.41036	0.346;0.188	T	0.13469	-1.0508	10	0.31617	T	0.26	-20.3727	18.6869	0.91568	0.0:0.0:1.0:0.0	.	909;932	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Q	909;932	ENSP00000372932:E909Q;ENSP00000262126:E932Q	ENSP00000262126:E932Q	E	+	1	0	ANKRD12	9246059	1.000000	0.71417	0.980000	0.43619	0.983000	0.72400	6.334000	0.72944	2.408000	0.81797	0.557000	0.71058	GAG	ANKRD12	-	NULL		0.328	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9256059	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	0.618	C	C	9256059	G	C	9256059	3	2	13	1	0	0	0	0	1	0	0	0	640	1175	41	1	2824	1	ANKRD12	18	9256059	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	633	9256059	68821189	742	2186										
C18orf1	753	genome.wustl.edu	37	chr18	13645378	13645378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cacccaaccgaaccatatttGacagtgatttaatagacatt	5	10	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:13645378G>A	ENST00000359446.5	+	6	1111	c.643G>A	c.(643-645)Gac>Aac	p.D215N	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D197N|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.D215N|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.D178N|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.D138N|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.D160N|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.D117N|RP11-701H16.4_ENST00000588397.1_RNA	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	215					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AACCATATTTGACAGTGATTT	0.572																																																	0													78	86	83					18																	13645378		2203	4300	6503	SO:0001583	missense	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.643G>A	18.37:g.13645378G>A	ENSP00000352420:p.Asp215Asn		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.D215N	ENST00000359446.5	37	c.643	CCDS32793.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719132	0.89205	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.40225	1.06;1.04	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.998;0.997;0.998;0.999;0.998	T	0.73685	-0.3905	10	0.87932	D	0	-11.7118	15.1129	0.72372	0.0:0.0:0.8574:0.1426	.	139;157;160;178;197;215	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	N	215;197;178;160;157;139	ENSP00000354753:D215N;ENSP00000382741:D197N	ENSP00000352420:D178N	D	+	1	0	C18orf1	13635378	1.000000	0.71417	0.895000	0.35142	0.966000	0.64601	9.480000	0.97931	1.171000	0.42768	0.655000	0.94253	GAC	LDLRAD4	-	NULL		0.572	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13645378	1	no_errors	ENST00000359446	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13645378	G	A	13645378	3	1	13	1	0	0	0	0	1	0	0	0	1899	1290	45	1	742	1	C18orf1	18	13645378	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4389319	13645378	64431870	743	2187										
RIOK3	8780	genome.wustl.edu	37	chr18	21061177	21061177	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatgaagatcacgttcagaaGaatggaaggaaagctgcttc	11	6	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:21061177G>A	ENST00000339486.3	+	13	2111	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	RIOK3_ENST00000581585.1_Silent_p.K482K|RIOK3_ENST00000577501.1_Silent_p.K495K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	498	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTTCAGAAGAATGGAAGGA	0.353																																																	0													103	98	100					18																	21061177		2203	4300	6503	SO:0001819	synonymous_variant	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1494G>A	18.37:g.21061177G>A			Q8IXN9	Silent	SNP	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.K498	ENST00000339486.3	37	c.1494	CCDS11877.1	18																																																																																			RIOK3	-	pirsf_Ser/Thr_kinase_Rio3		0.353	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	HGNC	protein_coding	OTTHUMT00000254756.1	G	NM_003831		21061177	1	no_errors	ENST00000339486	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21061177	G	A	21061177	2	1	13	1	0	0	0	0	0	0	0	1	13409	933	33	1		1	RIOK3	18	21061177	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7415799	21061177	57016071	744	2188										
CABYR	26256	genome.wustl.edu	37	chr18	21735985	21735985	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acgtcccagctgacccagctCagcttgctgctcagatgtta	9	14	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:21735985C>A	ENST00000399496.3	+	4	685	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	CABYR_ENST00000581397.1_Missense_Mutation_p.Q174K|CABYR_ENST00000399499.1_Missense_Mutation_p.Q174K|CABYR_ENST00000327201.6_Missense_Mutation_p.Q76K|CABYR_ENST00000399481.2_Missense_Mutation_p.Q76K|CABYR_ENST00000415309.2_Missense_Mutation_p.Q174K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	174					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TGACCCAGCTCAGCTTGCTGC	0.478																																																	0													129	98	109					18																	21735985		2203	4300	6503	SO:0001583	missense	26256			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.520C>A	18.37:g.21735985C>A	ENSP00000382419:p.Gln174Lys		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.Q174K	ENST00000399496.3	37	c.520	CCDS42420.1	18	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518648	0.64634	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399481;ENST00000327201;ENST00000399499	T;T;T;T	0.57107	0.42;1.39;1.35;0.42	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000013	T	0.70046	0.3179	L	0.54323	1.7	0.39003	D	0.959383	D;D;D;D	0.89917	1.0;0.997;0.998;0.997	D;D;D;D	0.87578	0.998;0.966;0.991;0.989	T	0.72074	-0.4400	10	0.87932	D	0	-11.8788	18.2023	0.89842	0.0:1.0:0.0:0.0	.	156;174;174;174	O75952-2;O75952-4;O75952-3;O75952	.;.;.;CABYR_HUMAN	K	174;174;76;76;174	ENSP00000382419:Q174K;ENSP00000399973:Q174K;ENSP00000382404:Q76K;ENSP00000382421:Q174K	ENSP00000317095:Q76K	Q	+	1	0	CABYR	19989983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	2.833000	0.97629	0.655000	0.94253	CAG	CABYR	-	NULL		0.478	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABYR	HGNC	protein_coding	OTTHUMT00000090926.2	C	NM_153770		21735985	1	no_errors	ENST00000463087	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21735985	C	A	21735985	3	1	13	1	0	0	0	0	1	0	0	0	2541	827	29	3	530	3	CABYR	18	21735985	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	674808	21735985	56341263	745	2189										
C18orf34	374864	genome.wustl.edu	37	chr18	30926242	30926242	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagtcaattttcatgttaatCatattctttcttgatctctg	5	7	6	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:30926242C>G	ENST00000383096.3	-	9	773	c.591G>C	c.(589-591)atG>atC	p.M197I	CCDC178_ENST00000406524.2_Missense_Mutation_p.M197I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M197I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M197I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.M197I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M197I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M197I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	197																	TCATGTTAATCATATTCTTTC	0.368																																																	0													118	117	117					18																	30926242		2203	4300	6503	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.591G>C	18.37:g.30926242C>G	ENSP00000372576:p.Met197Ile		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.M197I	ENST00000383096.3	37	c.591	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	1.201	-0.632370	0.03584	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.42900	2.56;2.56;2.56;2.55;2.56;0.96	5.59	-1.42	0.08913	.	.	.	.	.	T	0.27765	0.0683	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27765	0.031;0.188;0.188;0.188	B;B;B;B	0.24974	0.023;0.057;0.057;0.057	T	0.25257	-1.0137	9	0.52906	T	0.07	0.9812	4.9454	0.13987	0.5694:0.2184:0.0:0.2122	.	197;197;197;197	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	197	ENSP00000385591:M197I;ENSP00000372576:M197I;ENSP00000300227:M197I;ENSP00000385867:M197I;ENSP00000385234:M197I;ENSP00000382130:M197I	ENSP00000300227:M197I	M	-	3	0	C18orf34	29180240	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.325000	0.07976	0.021000	0.15133	0.557000	0.71058	ATG	CCDC178	-	NULL		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	C	NM_198995		30926242	-1	no_errors	ENST00000406524	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30926242	C	G	30926242	3	3	13	1	0	0	0	0	1	0	0	0	1907	826	29	1	2072	1	C18orf34	18	30926242	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9190257	30926242	47151006	746	2190										
GALNT1	2589	genome.wustl.edu	37	chr18	33267010	33267010	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgtgtcccatcatcgatgtGatcagtgatgatacttttga	10	7	2	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:33267010G>A	ENST00000269195.5	+	5	823	c.720G>A	c.(718-720)gtG>gtA	p.V240V	GALNT1_ENST00000537549.1_Silent_p.V180V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	240					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCATCGATGTGATCAGTGATG	0.413																																																	0													219	184	196					18																	33267010		2203	4300	6503	SO:0001819	synonymous_variant	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.720G>A	18.37:g.33267010G>A			Q86TJ7|Q9UM86	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V240	ENST00000269195.5	37	c.720	CCDS11915.1	18																																																																																			GALNT1	-	pfam_Glyco_trans_2		0.413	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT1	HGNC	protein_coding	OTTHUMT00000255771.2	G	NM_020474		33267010	1	no_errors	ENST00000269195	ensembl	human	known	70_37	silent	SNP	0.999	A	A	33267010	G	A	33267010	2	1	13	1	0	0	0	0	0	0	0	1	6226	1277	45	1		1	GALNT1	18	33267010	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2340768	33267010	44810238	747	2191										
PSTPIP2	9050	genome.wustl.edu	37	chr18	43619965	43619965	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttcttgcggccattgttcaGatgttggataatgttgtcat	11	6	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:43619965G>C	ENST00000409746.5	-	2	153	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L28V	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	28	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.					cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCATTGTTCAGATGTTGGATA	0.493																																																	0													223	186	198					18																	43619965		2203	4300	6503	SO:0001583	missense	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.82C>G	18.37:g.43619965G>C	ENSP00000387261:p.Leu28Val			Missense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.L28V	ENST00000409746.5	37	c.82	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471139	0.43942	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.18338	2.22	5.01	4.14	0.48551	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.64402	D	0.000002	T	0.27798	0.0684	L	0.43152	1.355	0.33411	D	0.578613	D;D	0.67145	0.996;0.994	D;D	0.67725	0.928;0.953	T	0.35101	-0.9802	10	0.49607	T	0.09	-10.4872	7.3963	0.26938	0.087:0.0:0.747:0.166	.	28;28	Q9H939-2;Q9H939	.;PPIP2_HUMAN	V	28	ENSP00000387261:L28V	ENSP00000353189:L28V	L	-	1	2	PSTPIP2	41873963	1.000000	0.71417	0.998000	0.56505	0.415000	0.31203	1.509000	0.35780	1.111000	0.41721	0.460000	0.39030	CTG	PSTPIP2	-	pfam_FCH,smart_FCH,pfscan_FCH		0.493	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1	G			43619965	-1	no_errors	ENST00000409746	ensembl	human	known	70_37	missense	SNP	0.999	C	C	43619965	G	C	43619965	3	2	13	1	0	0	0	0	1	0	0	0	12749	933	33	1	974	1	PSTPIP2	18	43619965	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	10352955	43619965	34457283	748	2192										
SMAD7	4092	genome.wustl.edu	37	chr18	46448173	46448173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagatcatagaagatatccaGagagggctcctggacacagt	11	8	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:46448173G>T	ENST00000262158.2	-	4	1136	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	SMAD7_ENST00000589634.1_Missense_Mutation_p.L283M|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Missense_Mutation_p.L69M	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	284	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					AAGATATCCAGAGAGGGCTCC	0.547																																																	0													53	54	53					18																	46448173		2203	4300	6503	SO:0001583	missense	4092			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.850C>A	18.37:g.46448173G>T	ENSP00000262158:p.Leu284Met		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.L284M	ENST00000262158.2	37	c.850	CCDS11936.1	18	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202020	0.58234	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.97352	-4.35	5.84	4.96	0.65561	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.75020	0.979;0.985	D	0.97722	1.0197	10	0.72032	D	0.01	.	13.6773	0.62462	0.0728:0.0:0.9272:0.0	.	284;96	O15105;B3KYA8	SMAD7_HUMAN;.	M	69;284	ENSP00000262158:L284M	ENSP00000262158:L284M	L	-	1	2	SMAD7	44702171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.846000	0.55888	2.760000	0.94817	0.591000	0.81541	CTG	SMAD7	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.547	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMAD7	HGNC	protein_coding	OTTHUMT00000255906.1	G	NM_005904		46448173	-1	no_errors	ENST00000262158	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46448173	G	T	46448173	3	4	13	1	0	0	0	0	1	0	0	0	14793	933	33	3	434	3	SMAD7	18	46448173	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2828208	46448173	31629075	749	2193										
CDH20	28316	genome.wustl.edu	37	chr18	59195380	59195380	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tttactttgtggaggtgcctGaggatgtggcgattggaaca	15	5	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:59195380G>C	ENST00000262717.4	+	7	1596	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	CDH20_ENST00000538374.1_Missense_Mutation_p.E400Q|CDH20_ENST00000536675.2_Missense_Mutation_p.E400Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGTGCCTGAGGATGTGGC	0.488																																																	0													193	187	189					18																	59195380		2203	4300	6503	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1198G>C	18.37:g.59195380G>C	ENSP00000262717:p.Glu400Gln		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E400Q	ENST00000262717.4	37	c.1198	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958947	0.92726	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.75938	-0.98;-0.98;-0.98	5.73	5.73	0.89815	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93776	0.7079	10	0.87932	D	0	.	19.9638	0.97259	0.0:0.0:1.0:0.0	.	400	Q9HBT6	CAD20_HUMAN	Q	400	ENSP00000444767:E400Q;ENSP00000442226:E400Q;ENSP00000262717:E400Q	ENSP00000262717:E400Q	E	+	1	0	CDH20	57346360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.199000	0.95003	2.721000	0.93114	0.650000	0.86243	GAG	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.488	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	G	NM_031891		59195380	1	no_errors	ENST00000262717	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59195380	G	C	59195380	3	2	13	1	0	0	0	0	1	0	0	0	3111	1291	45	1	1220	1	CDH20	18	59195380	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	12747207	59195380	18881868	750	2194										
DSEL	92126	genome.wustl.edu	37	chr18	65178784	65178784	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaatgccctcatcgaagctCctaaaacttcctgaaaaaaa	4	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:65178784C>G	ENST00000310045.7	-	2	4565	c.3092G>C	c.(3091-3093)gGa>gCa	p.G1031A	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1021					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATCGAAGCTCCTAAAACTTC	0.403																																																	0													81	86	85					18																	65178784		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3092G>C	18.37:g.65178784C>G	ENSP00000310565:p.Gly1031Ala		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.G1031A	ENST00000310045.7	37	c.3092	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.81499	-1.5	5.17	5.17	0.71159	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.89079	0.6613	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89902	0.4045	10	0.66056	D	0.02	-15.4057	18.6816	0.91548	0.0:1.0:0.0:0.0	.	1021	Q8IZU8	DSEL_HUMAN	A	1031;1021	ENSP00000310565:G1031A	ENSP00000310565:G1031A	G	-	2	0	DSEL	63329764	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	7.717000	0.84732	2.403000	0.81681	0.563000	0.77884	GGA	DSEL	-	pfam_Sulfotransferase_dom		0.403	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65178784	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65178784	C	G	65178784	3	3	13	1	0	0	0	0	1	0	0	0	4785	855	30	1	580	1	DSEL	18	65178784	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5983404	65178784	12898464	751	2195										
DSEL	92126	genome.wustl.edu	37	chr18	65178899	65178899	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcaaagccctaatatattCagcatctctatcaaaggcgc	5	13	4	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:65178899C>T	ENST00000310045.7	-	2	4450	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	983					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTAATATATTCAGCATCTCTA	0.378																																																	0													52	57	56					18																	65178899		2203	4299	6502	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2977G>A	18.37:g.65178899C>T	ENSP00000310565:p.Glu993Lys		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.E993K	ENST00000310045.7	37	c.2977	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.112400	0.94339	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19105	2.17	5.17	5.17	0.71159	Sulfotransferase domain (1);	0.068934	0.56097	U	0.000036	T	0.44746	0.1308	M	0.64997	1.995	0.58432	D	0.999994	D	0.76494	0.999	D	0.68353	0.957	T	0.28522	-1.0041	10	0.46703	T	0.11	-18.991	18.6816	0.91548	0.0:1.0:0.0:0.0	.	983	Q8IZU8	DSEL_HUMAN	K	993;983	ENSP00000310565:E993K	ENSP00000310565:E993K	E	-	1	0	DSEL	63329879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.403000	0.81681	0.563000	0.77884	GAA	DSEL	-	pfam_Sulfotransferase_dom		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65178899	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65178899	C	T	65178899	3	4	13	1	0	0	0	0	1	0	0	0	4785	835	29	1	695	1	DSEL	18	65178899	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	115	65178899	12898349	752	2196										
ZNF236	7776	genome.wustl.edu	37	chr18	74593330	74593330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agacctctgcaccacacgctCaaaacccagatgtttccagc	6	16	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:74593330C>G	ENST00000253159.8	+	9	1471	c.1273C>G	c.(1273-1275)Caa>Gaa	p.Q425E	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q427E	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	425					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACCACACGCTCAAAACCCAGA	0.488																																																	0													92	95	94					18																	74593330		1983	4185	6168	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1273C>G	18.37:g.74593330C>G	ENSP00000253159:p.Gln425Glu		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q425E	ENST00000253159.8	37	c.1273	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	7.270	0.606969	0.14002	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11063	2.81;3.0	4.8	3.91	0.45181	.	0.564552	0.17501	N	0.171997	T	0.12347	0.0300	L	0.60455	1.87	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.22626	-1.0211	10	0.18710	T	0.47	.	13.0756	0.59085	0.0:0.6921:0.3078:0.0	.	425;425	Q9NWI2;Q9UL36	.;ZN236_HUMAN	E	425	ENSP00000253159:Q425E;ENSP00000444524:Q425E	ENSP00000253159:Q425E	Q	+	1	0	ZNF236	72722318	0.012000	0.17670	0.000000	0.03702	0.026000	0.11368	2.500000	0.45381	1.125000	0.41998	0.557000	0.71058	CAA	ZNF236	-	NULL		0.488	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74593330	1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	0.000	G	G	74593330	C	G	74593330	3	3	13	1	0	0	0	0	1	0	0	0	17819	827	29	1	1307	1	ZNF236	18	74593330	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	9414431	74593330	3483918	753	2197										
NFATC1	4772	genome.wustl.edu	37	chr18	77170535	77170535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccgccggcggatcacccctCggggtacggagcagctttgg	15	15	1	0	rs372492742		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:77170535C>T	ENST00000427363.2	+	2	260	c.260C>T	c.(259-261)tCg>tTg	p.S87L	NFATC1_ENST00000318065.5_Missense_Mutation_p.S74L|NFATC1_ENST00000253506.5_Missense_Mutation_p.S87L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S74L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.S74L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S74L|NFATC1_ENST00000587635.1_Missense_Mutation_p.S87L|NFATC1_ENST00000542384.1_Missense_Mutation_p.S87L|NFATC1_ENST00000591814.1_Missense_Mutation_p.S87L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	87					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GATCACCCCTCGGGGTACGGA	0.721																																					GBM(151;1210 2593 28719 45011)												0								C	LEU/SER,LEU/SER,,LEU/SER,LEU/SER	0,4406		0,0,2203	42	45	44		260,221,,221,260	0.6	0	18		44	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	145,145,,145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,benign,benign	87/826,74/931,,74/813,87/717	77170535	1,13003	2203	4299	6502	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.260C>T	18.37:g.77170535C>T	ENSP00000389377:p.Ser87Leu		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S87L	ENST00000427363.2	37	c.260		18	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157706	0.21454	0.0	1.16E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.42513	0.97;0.97;0.97	4.39	0.607	0.17564	.	1.330090	0.05153	N	0.496456	T	0.29684	0.0741	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.13145	0.007;0.003;0.003;0.003;0.003;0.007;0.003	B;B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.002;0.002;0.002;0.001	T	0.28396	-1.0045	10	0.46703	T	0.11	-1.0201	8.6172	0.33840	0.0:0.6834:0.0:0.3166	.	74;74;87;87;87;74;87	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	87;87;87;74;74;51	ENSP00000253506:S87L;ENSP00000442435:S87L;ENSP00000327850:S74L	ENSP00000253506:S87L	S	+	2	0	NFATC1	75271523	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.430000	0.34914	-0.080000	0.12685	-0.258000	0.10820	TCG	NFATC1	-	NULL		0.721	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	C	NM_172390		77170535	1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	0.008	T	T	77170535	C	T	77170535	3	4	13	1	0	0	0	0	1	0	0	0	10385	893	31	1	358	1	NFATC1	18	77170535	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2577205	77170535	906713	754	2198										
NFATC1	4772	genome.wustl.edu	37	chr18	77208811	77208811	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tacttggagaatgagccgctGatgctgcagcttttcattgg	12	8	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:77208811G>A	ENST00000427363.2	+	4	1416	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	NFATC1_ENST00000318065.5_Silent_p.L459L|NFATC1_ENST00000253506.5_Silent_p.L472L|NFATC1_ENST00000329101.4_Silent_p.L459L|NFATC1_ENST00000545796.1_De_novo_Start_InFrame|NFATC1_ENST00000397790.2_De_novo_Start_InFrame|NFATC1_ENST00000592223.1_Silent_p.L459L|NFATC1_ENST00000586434.1_Silent_p.L459L|NFATC1_ENST00000587635.1_Silent_p.L472L|NFATC1_ENST00000542384.1_Silent_p.L472L|NFATC1_ENST00000591814.1_Silent_p.L472L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	472	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	ATGAGCCGCTGATGCTGCAGC	0.622																																					GBM(151;1210 2593 28719 45011)												0													75	75	75					18																	77208811		2203	4300	6503	SO:0001819	synonymous_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1416G>A	18.37:g.77208811G>A			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.L472	ENST00000427363.2	37	c.1416		18																																																																																			NFATC1	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.622	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77208811	1	no_errors	ENST00000427363	ensembl	human	known	70_37	silent	SNP	0.995	A	A	77208811	G	A	77208811	2	1	13	1	0	0	0	0	0	0	0	1	10385	1277	45	1		1	NFATC1	18	77208811	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	38276	77208811	868437	755	2199										
AZU1	566	genome.wustl.edu	37	chr19	829604	829604	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgctgggtgcctatgacctGaggcggcgggagaggcagtc	19	9	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:829604G>C	ENST00000233997.2	+	3	279	c.258G>C	c.(256-258)ctG>ctC	p.L86L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTATGACCTGAGGCGGCGGG	0.632																																																	0													72	70	70					19																	829604		2203	4300	6503	SO:0001819	synonymous_variant	566			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.258G>C	19.37:g.829604G>C			P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L86	ENST00000233997.2	37	c.258	CCDS12044.1	19																																																																																			AZU1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.632	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZU1	HGNC	protein_coding	OTTHUMT00000457472.2	G	NM_001700		829604	1	no_errors	ENST00000233997	ensembl	human	known	70_37	silent	SNP	0.992	C	C	829604	G	C	829604	2	2	13	1	0	0	0	0	0	0	0	1	1244	1277	45	1		1	AZU1	19	829604	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		829604	58299379	756	2200										
REXO1	57455	genome.wustl.edu	37	chr19	1817261	1817261	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccccgggtgggtgtctcctGagagctctttctcaaaggtc	12	12	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:1817261G>C	ENST00000170168.4	-	12	3252	c.3158C>G	c.(3157-3159)tCa>tGa	p.S1053*	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1053						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTCTCCTGAGAGCTCTTT	0.627																																																	0													72	68	69					19																	1817261		2203	4300	6503	SO:0001587	stop_gained	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3158C>G	19.37:g.1817261G>C	ENSP00000170168:p.Ser1053*		Q9ULT2	Nonsense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S1053*	ENST00000170168.4	37	c.3158	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	.	36	5.750113	0.96890	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	.	.	.	3.94	2.9	0.33743	.	0.539889	0.19299	N	0.117700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.1194	10.4762	0.44665	0.0962:0.0:0.9037:0.0	.	.	.	.	X	1053;325	.	ENSP00000170168:S1053X	S	-	2	0	REXO1	1768261	0.981000	0.34729	0.001000	0.08648	0.001000	0.01503	6.210000	0.72176	0.864000	0.35578	0.561000	0.74099	TCA	REXO1	-	NULL		0.627	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	G	NM_020695		1817261	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	nonsense	SNP	0.031	C	C	1817261	G	C	1817261	4	2	13	1	0	0	0	0	0	1	0	0	13271	1294	45	1	527	1	REXO1	19	1817261	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	987657	1817261	57311722	757	2201										
DAPK3	1613	genome.wustl.edu	37	chr19	3964692	3964692	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acgccgtccaggatctgcttGaggaactgggtggcctcgtc	14	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:3964692G>C	ENST00000545797.2	-	3	603	c.360C>G	c.(358-360)ctC>ctG	p.L120L	DAPK3_ENST00000301264.3_Silent_p.L120L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTGCTTGAGGAACTGGG	0.632																																																	0													124	122	123					19																	3964692		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.360C>G	19.37:g.3964692G>C			A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.L120	ENST00000545797.2	37	c.360	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964692	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	0.954	C	C	3964692	G	C	3964692	2	2	13	1	0	0	0	0	0	0	0	1	4242	1277	45	1		1	DAPK3	19	3964692	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2147431	3964692	55164291	758	2202										
SHD	56961	genome.wustl.edu	37	chr19	4280112	4280112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgggggtcggaggccccctCcgcagccgcccaccccggac	14	19	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:4280112C>T	ENST00000543264.2	+	1	1515	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	SHD_ENST00000599689.1_Missense_Mutation_p.P18S	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	18										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCTCCGCAGCCGCC	0.667																																																	0													17	22	20					19																	4280112		2200	4299	6499	SO:0001583	missense	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.52C>T	19.37:g.4280112C>T	ENSP00000446058:p.Pro18Ser		Q96NC2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P18S	ENST00000543264.2	37	c.52	CCDS12125.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.448288	0.96205	.	.	ENSG00000105251	ENST00000543264	T	0.50548	0.74	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.74647	2.275	0.48452	D	0.999656	D	0.58970	0.984	P	0.60173	0.87	T	0.70861	-0.4757	10	0.87932	D	0	-6.8741	14.7082	0.69208	0.0:1.0:0.0:0.0	.	18	Q96IW2	SHD_HUMAN	S	18	ENSP00000446058:P18S	ENSP00000446058:P18S	P	+	1	0	SHD	4231112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.506000	0.73712	2.118000	0.64928	0.484000	0.47621	CCG	SHD	-	NULL		0.667	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SHD	HGNC	protein_coding	OTTHUMT00000458082.1	C	NM_020209		4280112	1	no_errors	ENST00000543264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4280112	C	T	4280112	3	4	13	1	0	0	0	0	1	0	0	0	14305	855	30	1	54	1	SHD	19	4280112	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	315420	4280112	54848871	759	2203										
KHSRP	8570	genome.wustl.edu	37	chr19	6417784	6417784	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atccgcacgccagcatcattCtggatcttcttgatcatctc	6	14	6	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:6417784C>G	ENST00000398148.3	-	11	1139	c.1047G>C	c.(1045-1047)caG>caC	p.Q349H	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	349	Gly-rich.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CAGCATCATTCTGGATCTTCT	0.632											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(55;593 1006 2067 9135 22980)												0													64	70	68					19																	6417784		2117	4239	6356	SO:0001583	missense	8570			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1047G>C	19.37:g.6417784C>G	ENSP00000381216:p.Gln349His	633	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.Q349H	ENST00000398148.3	37	c.1047	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946714	0.53186	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.34072	1.38	5.35	4.1	0.47936	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	H	0.96015	3.755	0.50632	D	0.99988	D	0.89917	1.0	D	0.91635	0.999	T	0.77210	-0.2671	10	0.87932	D	0	.	10.7459	0.46181	0.0:0.8545:0.0:0.1455	.	349	Q92945	FUBP2_HUMAN	H	349;349;305	ENSP00000381216:Q349H	ENSP00000201886:Q349H	Q	-	3	2	KHSRP	6368784	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.647000	0.54403	2.493000	0.84123	0.655000	0.94253	CAG	KHSRP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.632	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	C			6417784	-1	no_errors	ENST00000398148	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6417784	C	G	6417784	3	3	13	1	0	0	0	0	1	0	0	0	8171	912	32	1	1128	1	KHSRP	19	6417784	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2137672	6417784	52711199	760	2204										
SLC25A41	284427	genome.wustl.edu	37	chr19	6433680	6433680	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gatcctagagcaagtgttctGaggttccccaggctgagcgc	13	11	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:6433680G>C	ENST00000321510.6	-	1	93	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CAAGTGTTCTGAGGTTCCCCA	0.572																																																	0													35	36	36					19																	6433680		1930	4143	6073	SO:0001583	missense	284427			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"Solute carriers"	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.25C>G	19.37:g.6433680G>C	ENSP00000322649:p.Gln9Glu			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q9E	ENST00000321510.6	37	c.25	CCDS45937.1	19	.	.	.	.	.	.	.	.	.	.	G	0.337	-0.952927	0.02285	.	.	ENSG00000181240	ENST00000321510;ENST00000458275	T;T	0.80566	-1.39;1.26	3.09	-5.11	0.02901	.	0.274240	0.23704	U	0.045400	T	0.56688	0.2002	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	10	0.87932	D	0	.	6.8216	0.23861	0.0:0.4576:0.2394:0.303	.	9	Q8N5S1	S2541_HUMAN	E	9	ENSP00000322649:Q9E;ENSP00000405411:Q9E	ENSP00000322649:Q9E	Q	-	1	0	SLC25A41	6384680	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.365000	0.07573	-0.813000	0.04357	-0.802000	0.03209	CAG	SLC25A41	-	NULL		0.572	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	G	NM_173637		6433680	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	0.000	C	C	6433680	G	C	6433680	3	2	13	1	0	0	0	0	1	0	0	0	14536	1299	45	1	1115	1	SLC25A41	19	6433680	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	15896	6433680	52695303	761	2205										
RAVER1	125950	genome.wustl.edu	37	chr19	10432283	10432283	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccaggggtgagtctcccagGatgccgggcttctagggaca	15	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:10432283G>C	ENST00000293677.6	-	7	1317	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	395	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGTCTCCCAGGATGCCGGGCT	0.682																																																	0													34	41	39					19																	10432283		2007	4153	6160	SO:0001583	missense	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1236C>G	19.37:g.10432283G>C	ENSP00000293677:p.Ile412Met		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I412M	ENST00000293677.6	37	c.1236	CCDS45960.1	19	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154520	0.57259	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.12039	2.72	4.82	3.78	0.43462	.	0.134036	0.49916	D	0.000132	T	0.20981	0.0505	L	0.39898	1.24	0.34216	D	0.67483	D	0.64830	0.994	P	0.59221	0.854	T	0.21518	-1.0243	10	0.49607	T	0.09	-14.5429	8.9149	0.35576	0.1043:0.0:0.8957:0.0	.	412	E9PAU2	.	M	412;395	ENSP00000293677:I412M	ENSP00000293677:I412M	I	-	3	3	RAVER1	10293283	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	1.386000	0.34419	1.026000	0.39733	0.400000	0.26472	ATC	RAVER1	-	NULL		0.682	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	G	NM_133452		10432283	-1	no_errors	ENST00000293677	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10432283	G	C	10432283	3	2	13	1	0	0	0	0	1	0	0	0	13124	1164	41	1	1062	1	RAVER1	19	10432283	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3998603	10432283	48696700	762	2206										
DNM2	1785	genome.wustl.edu	37	chr19	10922966	10922966	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgcaggggctggctgaccatCaacaacatcagcctgatgaa	11	12	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:10922966C>G	ENST00000355667.6	+	15	1664	c.1584C>G	c.(1582-1584)atC>atG	p.I528M	DNM2_ENST00000359692.6_Missense_Mutation_p.I524M|DNM2_ENST00000585892.1_Missense_Mutation_p.I528M|DNM2_ENST00000314646.5_Missense_Mutation_p.I528M|DNM2_ENST00000389253.4_Missense_Mutation_p.I528M|DNM2_ENST00000408974.4_Missense_Mutation_p.I524M	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	528	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCTGACCATCAACAACATCA	0.622			"F, N, Splice, Mis, O"		ETP ALL																																			Rec	yes		19	19p13.2	1785	dynamin 2		L	0													86	57	67					19																	10922966		2199	4299	6498	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1584C>G	19.37:g.10922966C>G	ENSP00000347890:p.Ile528Met		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.I528M	ENST00000355667.6	37	c.1584	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186173	0.57909	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.96365	-3.99;-3.99;-3.99	5.26	4.22	0.49857	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.66939	2.045	0.49299	D	0.99977	D;B;B;P;B;P	0.55385	0.971;0.309;0.282;0.823;0.282;0.844	D;B;P;P;P;P	0.73380	0.98;0.416;0.471;0.896;0.471;0.81	D	0.96493	0.9365	10	0.62326	D	0.03	-3.9164	7.8937	0.29693	0.1595:0.7576:0.0:0.0829	.	122;257;524;524;528;528	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	M	524;524;528;528;528;135	ENSP00000386192:I524M;ENSP00000373905:I528M;ENSP00000313164:I528M	ENSP00000313164:I528M	I	+	3	3	DNM2	10783966	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.224000	0.17738	1.217000	0.43442	0.655000	0.94253	ATC	DNM2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	C	NM_004945		10922966	1	no_errors	ENST00000314646	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10922966	C	G	10922966	3	3	13	1	0	0	0	0	1	0	0	0	4682	816	29	1	1785	1	DNM2	19	10922966	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	490683	10922966	48206017	763	2207										
TNPO2	30000	genome.wustl.edu	37	chr19	12826312	12826312	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtcactgtccagaagctctGatgagtcttcacagatcttc	8	12	5	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:12826312G>C	ENST00000592287.1	-	6	581	c.473C>G	c.(472-474)tCa>tGa	p.S158*	TNPO2_ENST00000450764.2_Nonsense_Mutation_p.S158*|TNPO2_ENST00000441499.1_Nonsense_Mutation_p.S158*|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Nonsense_Mutation_p.S158*|TNPO2_ENST00000356861.5_Nonsense_Mutation_p.S158*|TNPO2_ENST00000425528.1_Nonsense_Mutation_p.S158*	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	158					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGAAGCTCTGATGAGTCTTC	0.587																																																	0													69	73	71					19																	12826312		1977	4157	6134	SO:0001587	stop_gained	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.473C>G	19.37:g.12826312G>C	ENSP00000468434:p.Ser158*		O14655|Q6IN77	Nonsense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.S158*	ENST00000592287.1	37	c.473	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.661783	0.97743	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.7864	18.7135	0.91667	0.0:0.0:1.0:0.0	.	.	.	.	X	322;158;158;158;158;158;158	.	ENSP00000349321:S158X	S	-	2	0	TNPO2	12687312	1.000000	0.71417	0.109000	0.21407	0.920000	0.55202	9.150000	0.94667	2.720000	0.93068	0.555000	0.69702	TCA	TNPO2	-	superfamily_ARM-type_fold		0.587	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	G	NM_013433		12826312	-1	no_errors	ENST00000425528	ensembl	human	known	70_37	nonsense	SNP	0.973	C	C	12826312	G	C	12826312	4	2	13	1	0	0	0	0	0	1	0	0	16366	1294	45	1	2296	1	TNPO2	19	12826312	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1903346	12826312	46302671	764	2208										
IL27RA	9466	genome.wustl.edu	37	chr19	14157028	14157028	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggttggaggtcgtgagctGagtccagaaggaattacctg	16	6	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:14157028G>A	ENST00000263379.2	+	7	956	c.831G>A	c.(829-831)ctG>ctA	p.L277L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	277					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCGTGAGCTGAGTCCAGAAG	0.582																																					Colon(164;1849 1896 4443 37792 47834)												0													160	160	160					19																	14157028		2203	4300	6503	SO:0001819	synonymous_variant	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.831G>A	19.37:g.14157028G>A			A0N0L1|O60624	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L277	ENST00000263379.2	37	c.831	CCDS12303.1	19																																																																																			IL27RA	-	superfamily_Fibronectin_type3		0.582	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	G	NM_004843		14157028	1	no_errors	ENST00000263379	ensembl	human	known	70_37	silent	SNP	0.000	A	A	14157028	G	A	14157028	2	1	13	1	0	0	0	0	0	0	0	1	7701	1277	45	1		1	IL27RA	19	14157028	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1330716	14157028	44971955	765	2209										
NOTCH3	4854	genome.wustl.edu	37	chr19	15291882	15291882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgagaggcaggggtctgcctCatgttggcagtgggctcctg	17	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:15291882C>T	ENST00000263388.2	-	18	2959	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	962	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGTCTGCCTCATGTTGGCAG	0.692																																																	0													18	21	20					19																	15291882		2201	4299	6500	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2884G>A	19.37:g.15291882C>T	ENSP00000263388:p.Glu962Lys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.E962K	ENST00000263388.2	37	c.2884	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311172	0.40895	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87334	-2.24	5.36	1.61	0.23674	Epidermal growth factor-like, type 3 (1);	0.265359	0.19996	N	0.101447	T	0.82006	0.4943	L	0.54323	1.7	0.42249	D	0.991962	B;B	0.13594	0.008;0.005	B;B	0.20577	0.006;0.03	T	0.73867	-0.3847	10	0.27785	T	0.31	.	10.0275	0.42081	0.0:0.6487:0.2754:0.0759	.	913;962	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	962;912	ENSP00000263388:E962K	ENSP00000263388:E962K	E	-	1	0	NOTCH3	15152882	0.095000	0.21747	0.018000	0.16275	0.465000	0.32709	1.157000	0.31724	0.571000	0.29365	0.491000	0.48974	GAG	NOTCH3	-	smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435		15291882	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	missense	SNP	0.613	T	T	15291882	C	T	15291882	3	4	13	1	0	0	0	0	1	0	0	0	10574	835	29	1	4145	1	NOTCH3	19	15291882	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1134854	15291882	43837101	766	2210										
RAB8A	4218	genome.wustl.edu	37	chr19	16229068	16229068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaattaggaccatagagctcGatggcaagagaattaaactg	10	6	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:16229068G>A	ENST00000300935.3	+	2	430	c.157G>A	c.(157-159)Gat>Aat	p.D53N	RAB8A_ENST00000586682.1_Missense_Mutation_p.D53N	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	53					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CATAGAGCTCGATGGCAAGAG	0.458																																																	0													148	120	129					19																	16229068		2203	4300	6503	SO:0001583	missense	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.157G>A	19.37:g.16229068G>A	ENSP00000300935:p.Asp53Asn		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D53N	ENST00000300935.3	37	c.157	CCDS12339.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139818	0.77775	.	.	ENSG00000167461	ENST00000300935	T	0.80909	-1.43	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.049331	0.85682	D	0.000000	T	0.73001	0.3531	L	0.31207	0.915	0.80722	D	1	B;B;B	0.32507	0.373;0.373;0.013	B;B;B	0.32211	0.142;0.142;0.005	T	0.75605	-0.3260	10	0.66056	D	0.02	.	16.6745	0.85275	0.0:0.0:1.0:0.0	.	53;53;48	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	N	53	ENSP00000300935:D53N	ENSP00000300935:D53N	D	+	1	0	RAB8A	16090068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.530000	0.98051	2.272000	0.75746	0.655000	0.94253	GAT	RAB8A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.458	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	HGNC	protein_coding	OTTHUMT00000460186.1	G	NM_005370		16229068	1	no_errors	ENST00000300935	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16229068	G	A	16229068	3	1	13	1	0	0	0	0	1	0	0	0	12986	1058	37	1	163	1	RAB8A	19	16229068	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	937186	16229068	42899915	767	2211										
HOMER3	9454	genome.wustl.edu	37	chr19	19040315	19040315	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcactcagctcaaacaggctGacgtccagcagctgcgctgc	10	15	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:19040315G>C	ENST00000539827.1	-	9	1675	c.1023C>G	c.(1021-1023)gtC>gtG	p.V341V	HOMER3_ENST00000433218.2_Silent_p.V338V|HOMER3_ENST00000594439.1_Silent_p.V305V|HOMER3_ENST00000594794.1_Silent_p.V132V|HOMER3_ENST00000355887.6_Silent_p.V338V|HOMER3_ENST00000392351.3_Silent_p.V341V|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000542541.2_Silent_p.V341V|HOMER3_ENST00000221222.11_Silent_p.V338V			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	341					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CAAACAGGCTGACGTCCAGCA	0.711																																																	0													9	9	9					19																	19040315		2162	4223	6385	SO:0001819	synonymous_variant	9454			Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.1023C>G	19.37:g.19040315G>C			E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Silent	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.V341	ENST00000539827.1	37	c.1023	CCDS12391.1	19																																																																																			HOMER3	-	NULL		0.711	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HOMER3	HGNC	protein_coding	OTTHUMT00000464607.1	G			19040315	-1	no_errors	ENST00000392351	ensembl	human	known	70_37	silent	SNP	0.963	C	C	19040315	G	C	19040315	2	2	13	1	0	0	0	0	0	0	0	1	7300	1277	45	1		1	HOMER3	19	19040315	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2811247	19040315	40088668	768	2212										
LOC729991-MEF2B	100271849	genome.wustl.edu	37	chr19	19257570	19257570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cggaggtgtttagtccccctCggggcccagccaggccacca	13	16	0	0	rs368120349		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:19257570C>A	ENST00000602424.2	-	8	1382	c.656G>T	c.(655-657)cGa>cTa	p.R219L	MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000162023.5_Missense_Mutation_p.R219L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R236L|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R219L|MEF2B_ENST00000410050.1_Missense_Mutation_p.R219L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R222L|MEF2B_ENST00000424583.2_Missense_Mutation_p.R219L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	219					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TAGTCCCCCTCGGGGCCCAGC	0.662																																																	0								C	LEU/ARG,LEU/ARG	0,4406		0,0,2203	51	51	51		656,656	4.6	1	19		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MEF2BNB-MEF2B,MEF2B	NM_001145785.1,NM_005919.3	102,102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	219/369,219/366	19257570	1,13005	2203	4300	6503	SO:0001583	missense	100271849			X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.656G>T	19.37:g.19257570C>A	ENSP00000473308:p.Arg219Leu		A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.R219L	ENST00000602424.2	37	c.656	CCDS12394.1	19	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733378	0.30684	0.0	1.16E-4	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000162023	D;D;D;D;D	0.88046	-2.33;-2.31;-2.31;-2.24;-2.31	4.58	4.58	0.56647	.	0.397256	0.22917	N	0.054072	D	0.83339	0.5233	L	0.32530	0.975	0.26846	N	0.968276	P;P;P;B	0.48998	0.918;0.515;0.859;0.049	B;B;P;B	0.46275	0.376;0.17;0.51;0.049	T	0.78183	-0.2303	10	0.52906	T	0.07	-1.7888	12.8877	0.58053	0.0:1.0:0.0:0.0	.	219;219;219;222	Q02080;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.	L	222;219;219;219;219	ENSP00000386480:R222L;ENSP00000402154:R219L;ENSP00000386374:R219L;ENSP00000390762:R219L;ENSP00000162023:R219L	ENSP00000162023:R219L	R	-	2	0	MEF2B	19118570	0.064000	0.20934	0.968000	0.41197	0.260000	0.26232	1.133000	0.31430	2.123000	0.65237	0.561000	0.74099	CGA	MEF2B	-	NULL		0.662	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	HGNC	protein_coding		C	NM_005919		19257570	-1	no_errors	ENST00000162023	ensembl	human	known	70_37	missense	SNP	0.631	A	A	19257570	C	A	19257570	3	1	13	1	0	0	0	0	1	0	0	0	8912	884	31	3	453	3	LOC729991-MEF2B	19	19257570	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	217255	19257570	39871413	769	2213										
ZNF14	7561	genome.wustl.edu	37	chr19	19822546	19822546	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	catgttctcgaagggaacttGaaaaactgaaggttttaccg	10	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:19822546G>C	ENST00000344099.3	-	4	1682	c.1544C>G	c.(1543-1545)tCa>tGa	p.S515*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGGAACTTGAAAAACTGAA	0.393																																																	0													99	98	98					19																	19822546		2203	4300	6503	SO:0001587	stop_gained	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1544C>G	19.37:g.19822546G>C	ENSP00000340514:p.Ser515*		B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S515*	ENST00000344099.3	37	c.1544	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.489059	0.96323	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.8	-1.69	0.08186	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	2.0099	0.03485	0.3119:0.0:0.2541:0.434	.	.	.	.	X	515	.	ENSP00000340514:S515X	S	-	2	0	ZNF14	19683546	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-2.720000	0.00812	-0.039000	0.13602	0.467000	0.42956	TCA	ZNF14	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	G	NM_021030		19822546	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	19822546	G	C	19822546	4	2	13	1	0	0	0	0	0	1	0	0	17758	1294	45	1	388	1	ZNF14	19	19822546	Nonsense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	564976	19822546	39306437	770	2214										
ZNF714	148206	genome.wustl.edu	37	chr19	21300302	21300302	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttactacacataagttcattCatgttaaagaaaaaccctac	3	9	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:21300302C>G	ENST00000596143.1	+	5	1157	c.832C>G	c.(832-834)Cat>Gat	p.H278D	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAGTTCATTCATGTTAAAGA	0.348																																																	0													25	27	26					19																	21300302		2168	4283	6451	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.832C>G	19.37:g.21300302C>G	ENSP00000472368:p.His278Asp		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H278D	ENST00000596143.1	37	c.832	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	14.50	2.554411	0.45487	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82061	0.4955	H	0.95712	3.71	0.36578	D	0.873404	D;D;D	0.76494	0.998;0.963;0.999	D;P;D	0.91635	0.999;0.802;0.998	D	0.84583	0.0662	8	0.87932	D	0	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	279;278;279	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	D	278	.	ENSP00000291770:H278D	H	+	1	0	ZNF714	21092142	0.966000	0.33281	0.005000	0.12908	0.005000	0.04900	3.320000	0.51991	0.446000	0.26666	0.449000	0.29647	CAT	ZNF714	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	C	NM_182515		21300302	1	no_errors	ENST00000596143	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21300302	C	G	21300302	3	3	13	1	0	0	0	0	1	0	0	0	18148	826	29	1	842	1	ZNF714	19	21300302	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1477756	21300302	37828681	771	2215										
ZNF100	163227	genome.wustl.edu	37	chr19	21909817	21909817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	attaaaagctttgccacattCttcacatttgtagggtttct	6	8	3	0	rs368185825		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:21909817C>G	ENST00000358296.6	-	5	1495	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	ZNF100_ENST00000305570.6_Missense_Mutation_p.E369Q	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTGCCACATTCTTCACATTTG	0.403																																																	0								C	GLN/GLU	0,4388		0,0,2194	66	73	71		1297	-1.6	0.3	19		71	1,8591		0,1,4295	no	missense	ZNF100	NM_173531.3	29	0,1,6489	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	433/543	21909817	1,12979	2194	4296	6490	SO:0001583	missense	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1297G>C	19.37:g.21909817C>G	ENSP00000351042:p.Glu433Gln		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E433Q	ENST00000358296.6	37	c.1297	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	0.567	-0.842832	0.02671	0.0	1.16E-4	ENSG00000197020	ENST00000358296	T	0.07444	3.19	0.801	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	L	0.35542	1.07	0.09310	N	1	B;P	0.35468	0.353;0.503	B;B	0.34346	0.129;0.18	T	0.36792	-0.9733	9	0.59425	D	0.04	.	7.3044	0.26438	0.0:0.7247:0.2752:0.0	.	433;487	Q8IYN0;Q4G131	ZN100_HUMAN;.	Q	433	ENSP00000351042:E433Q	ENSP00000351042:E433Q	E	-	1	0	ZNF100	21701657	0.000000	0.05858	0.271000	0.24616	0.272000	0.26649	-1.803000	0.01740	0.170000	0.19704	0.173000	0.16961	GAA	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	C	NM_173531		21909817	-1	no_errors	ENST00000358296	ensembl	human	known	70_37	missense	SNP	0.043	G	G	21909817	C	G	21909817	3	3	13	1	0	0	0	0	1	0	0	0	17743	922	32	1	335	1	ZNF100	19	21909817	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	609515	21909817	37219166	772	2216										
ZNF536	9745	genome.wustl.edu	37	chr19	30936474	30936474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgggctgcacgtgggcctgGatgagcggcgtggctcgggc	20	10	0	1	rs573832117		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:30936474G>A	ENST00000355537.3	+	2	2152	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	669					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGGGCCTGGATGAGCGGCG	0.697													G|||	1	0.000199681	8e-04	0	5008	,	,		14931	0		0	False		,,,				2504	0																0													39	44	42					19																	30936474		2203	4298	6501	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2005G>A	19.37:g.30936474G>A	ENSP00000347730:p.Asp669Asn		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D669N	ENST00000355537.3	37	c.2005	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073174	0.55646	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.42	5.42	0.78866	.	0.322034	0.35838	N	0.002960	T	0.09818	0.0241	N	0.19112	0.55	0.53005	D	0.99996	P;P	0.41366	0.747;0.747	B;B	0.40375	0.327;0.327	T	0.33085	-0.9882	10	0.22109	T	0.4	-14.3077	19.2151	0.93774	0.0:0.0:1.0:0.0	.	669;669	A7E228;O15090	.;ZN536_HUMAN	N	669	ENSP00000347730:D669N	ENSP00000347730:D669N	D	+	1	0	ZNF536	35628314	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.378000	0.97191	2.509000	0.84616	0.655000	0.94253	GAT	ZNF536	-	NULL		0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		30936474	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30936474	G	A	30936474	3	1	13	1	0	0	0	0	1	0	0	0	18004	1174	41	1	2007	1	ZNF536	19	30936474	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	9026657	30936474	28192509	773	2217										
DMKN	93099	genome.wustl.edu	37	chr19	35989789	35989789	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tactcaccgaggaagaaggtGagactcccccctgcaaaaag	10	12	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:35989789G>A	ENST00000339686.3	-	14	1546	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	DMKN_ENST00000443640.1_Missense_Mutation_p.S234L|DMKN_ENST00000429837.1_Missense_Mutation_p.S430L|DMKN_ENST00000472252.2_Missense_Mutation_p.S104L|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000419602.1_Missense_Mutation_p.S446L|DMKN_ENST00000602781.1_Missense_Mutation_p.S184L|DMKN_ENST00000467637.1_Missense_Mutation_p.S182L|DMKN_ENST00000408915.2_Missense_Mutation_p.S71L|DMKN_ENST00000402589.2_Missense_Mutation_p.S184L|DMKN_ENST00000492341.2_Missense_Mutation_p.S104L|DMKN_ENST00000436012.1_Missense_Mutation_p.S153L|DMKN_ENST00000414866.2_Missense_Mutation_p.S170L|DMKN_ENST00000480502.1_Missense_Mutation_p.S165L	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	457						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGAAGAAGGTGAGACTCCCCC	0.587																																																	0													68	60	63					19																	35989789		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1370C>T	19.37:g.35989789G>A	ENSP00000342012:p.Ser457Leu		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.S457L	ENST00000339686.3	37	c.1370	CCDS12463.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.385666|2.385666	0.42308|0.42308	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000443857|ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640	.|T;T;T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.25|4.25	2.13|2.13	0.27403|0.27403	.|.	.|0.596474	.|0.14236	.|N	.|0.332385	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;P;P;B;B;B;B	.|0.38597	.|0.137;0.0;0.0;0.001;0.628;0.639;0.001;0.0;0.0;0.002	.|B;B;B;B;B;B;B;B;B;B	.|0.34242	.|0.058;0.001;0.001;0.001;0.09;0.178;0.002;0.001;0.001;0.001	T|T	0.12604|0.12604	-1.0541|-1.0541	5|10	.|0.87932	.|D	.|0	-4.5353|-4.5353	6.0135|6.0135	0.19589|0.19589	0.2269:0.0:0.7731:0.0|0.2269:0.0:0.7731:0.0	.|.	.|127;113;133;151;446;430;457;170;234;71	.|Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15	.|.;.;.;.;.;.;DMKN_HUMAN;.;.;.	Y|L	175|71;184;457;153;170;430;446;234	.|ENSP00000386225:S71L;ENSP00000384509:S184L;ENSP00000342012:S457L;ENSP00000412075:S153L;ENSP00000392222:S170L;ENSP00000405503:S430L;ENSP00000391036:S446L;ENSP00000406864:S234L	.|ENSP00000342012:S457L	H|S	-|-	1|2	0|0	DMKN|DMKN	40681629|40681629	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.364000|0.364000	0.29643|0.29643	0.579000|0.579000	0.23788|0.23788	1.149000|1.149000	0.42402|0.42402	0.484000|0.484000	0.47621|0.47621	CAC|TCA	DMKN	-	NULL		0.587	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35989789	-1	no_errors	ENST00000339686	ensembl	human	known	70_37	missense	SNP	0.001	A	A	35989789	G	A	35989789	3	1	13	1	0	0	0	0	1	0	0	0	4592	1294	45	1	68	1	DMKN	19	35989789	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5053315	35989789	23139194	774	2218										
UPK1A	11045	genome.wustl.edu	37	chr19	36164145	36164145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctccccagtacctggtgctCatgctcatcgtctacatctt	6	15	5	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:36164145C>T	ENST00000222275.2	+	3	297	c.297C>T	c.(295-297)ctC>ctT	p.L99L	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.L99L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	99					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCTGGTGCTCATGCTCATCG	0.632																																																	0													114	91	99					19																	36164145		2203	4300	6503	SO:0001819	synonymous_variant	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.297C>T	19.37:g.36164145C>T			Q3KNU5|Q3KNU6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L99	ENST00000222275.2	37	c.297	CCDS12470.1	19																																																																																			UPK1A	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.632	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	C			36164145	1	no_errors	ENST00000379013	ensembl	human	known	70_37	silent	SNP	0.987	T	T	36164145	C	T	36164145	2	4	13	1	0	0	0	0	0	0	0	1	17038	813	29	1		1	UPK1A	19	36164145	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	174356	36164145	22964838	775	2219										
UPK1A	11045	genome.wustl.edu	37	chr19	36164186	36164186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgagtgcgcctcctgcatcaCgtcctacacccaccgtgact	8	18	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:36164186C>T	ENST00000222275.2	+	3	338	c.338C>T	c.(337-339)aCg>aTg	p.T113M	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.T113M	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	113					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTGCATCACGTCCTACACC	0.697																																																	0													105	84	91					19																	36164186		2203	4300	6503	SO:0001583	missense	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.338C>T	19.37:g.36164186C>T	ENSP00000222275:p.Thr113Met		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T113M	ENST00000222275.2	37	c.338	CCDS12470.1	19	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923941	0.92319	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.78595	-1.19;-1.19	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.65498	2.005	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85825	0.1388	10	0.42905	T	0.14	-1.4302	16.88	0.86060	0.0:1.0:0.0:0.0	.	113;113	O00322-2;O00322	.;UPK1A_HUMAN	M	113	ENSP00000222275:T113M;ENSP00000368298:T113M	ENSP00000222275:T113M	T	+	2	0	UPK1A	40856026	0.997000	0.39634	0.995000	0.50966	0.993000	0.82548	3.944000	0.56629	2.659000	0.90383	0.655000	0.94253	ACG	UPK1A	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.697	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	C			36164186	1	no_errors	ENST00000379013	ensembl	human	known	70_37	missense	SNP	0.998	T	T	36164186	C	T	36164186	3	4	13	1	0	0	0	0	1	0	0	0	17038	536	19	2	348	2	UPK1A	19	36164186	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	41	36164186	22964797	776	2220										
ZNF382	84911	genome.wustl.edu	37	chr19	37118330	37118330	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatcaaacctcattcgccatCagaaaactcacacaggcgag	6	13	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:37118330C>T	ENST00000292928.2	+	5	1644	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	ZNF382_ENST00000423582.1_Nonsense_Mutation_p.Q462*|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.Q510*|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Nonsense_Mutation_p.Q510*	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	511	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCGCCATCAGAAAACTCA	0.418																																																	0													76	78	77					19																	37118330		2203	4300	6503	SO:0001587	stop_gained	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1531C>T	19.37:g.37118330C>T	ENSP00000292928:p.Gln511*		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q511*	ENST00000292928.2	37	c.1531	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	C	48	14.906118	0.99815	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	.	.	.	4.27	4.27	0.50696	.	0.000000	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	.	.	.	X	462;511;510;510	.	ENSP00000292928:Q511X	Q	+	1	0	ZNF382	41810170	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.096000	0.15147	2.375000	0.81037	0.591000	0.81541	CAG	ZNF382	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	C	NM_032825		37118330	1	no_errors	ENST00000292928	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	37118330	C	T	37118330	4	4	13	1	0	0	0	0	0	1	0	0	17903	827	29	1	1541	1	ZNF382	19	37118330	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	954144	37118330	22010653	777	2221										
ZNF790	388536	genome.wustl.edu	37	chr19	37314690	37314690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccacatccctgaacatcatCaactgttggaaagaataatt	6	10	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:37314690C>G	ENST00000356725.4	-	3	132	c.12G>C	c.(10-12)ttG>ttC	p.L4F	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAACATCATCAACTGTTGGA	0.403																																																	0													69	68	68					19																	37314690		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.12G>C	19.37:g.37314690C>G	ENSP00000349161:p.Leu4Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L4F	ENST00000356725.4	37	c.12	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275387	0.23307	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288;ENST00000527645	T;T;T;T	0.00922	5.54;5.54;5.54;5.54	3.53	2.48	0.30137	Krueppel-associated box (1);	.	.	.	.	T	0.03011	0.0089	M	0.67625	2.065	0.09310	N	1	D	0.69078	0.997	P	0.61397	0.888	T	0.42599	-0.9442	9	0.52906	T	0.07	.	6.1366	0.20237	0.0:0.8504:0.0:0.1496	.	4	Q6PG37	ZN790_HUMAN	F	4	ENSP00000349161:L4F;ENSP00000435944:L4F;ENSP00000433389:L4F;ENSP00000434537:L4F	ENSP00000349161:L4F	L	-	3	2	ZNF790	42006530	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	-0.138000	0.10374	0.779000	0.33543	0.585000	0.79938	TTG	ZNF790	-	superfamily_Krueppel-associated_box		0.403	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	C	NM_206894		37314690	-1	no_errors	ENST00000356725	ensembl	human	known	70_37	missense	SNP	0.037	G	G	37314690	C	G	37314690	3	3	13	1	0	0	0	0	1	0	0	0	18192	825	29	1	1910	1	ZNF790	19	37314690	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	196360	37314690	21814293	778	2222										
PAK4	10298	genome.wustl.edu	37	chr19	39666057	39666057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacatcaagagcgactcgatCctgctgacccatgatggcag	11	12	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:39666057C>T	ENST00000593690.1	+	8	1765	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	PAK4_ENST00000360442.3_Silent_p.I446I|PAK4_ENST00000599386.1_Silent_p.I293I|PAK4_ENST00000599470.1_Silent_p.I293I|PAK4_ENST00000321944.4_Silent_p.I356I|PAK4_ENST00000358301.3_Silent_p.I446I|PAK4_ENST00000435673.2_Silent_p.I446I	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCGACTCGATCCTGCTGACCC	0.687																																																	0													35	34	34					19																	39666057		2202	4300	6502	SO:0001819	synonymous_variant	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1338C>T	19.37:g.39666057C>T			B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I446	ENST00000593690.1	37	c.1338	CCDS12528.1	19																																																																																			PAK4	-	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		0.687	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	C			39666057	1	no_errors	ENST00000358301	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39666057	C	T	39666057	2	4	13	1	0	0	0	0	0	0	0	1	11427	845	30	1		1	PAK4	19	39666057	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2351367	39666057	19462926	779	2223										
FCGBP	8857	genome.wustl.edu	37	chr19	40398400	40398400	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgcacgaagctgtccccgtcGaaagccagcgagagccctga	12	15	0	2	rs142244772		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:40398400G>A	ENST00000221347.6	-	14	6574	c.6567C>T	c.(6565-6567)ttC>ttT	p.F2189F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2189	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTCCCCGTCGAAAGCCAGCG	0.662																																																	0								G		0,4108		0,0,2054	67	74	71		6567	0.2	0.7	19	dbSNP_134	71	1,7763		0,1,3881	no	coding-synonymous	FCGBP	NM_003890.2		0,1,5935	AA,AG,GG		0.0129,0.0,0.0084		2189/5406	40398400	1,11871	2054	3882	5936	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6567C>T	19.37:g.40398400G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F2189	ENST00000221347.6	37	c.6567	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40398400	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.995	A	A	40398400	G	A	40398400	2	1	13	1	0	0	0	0	0	0	0	1	5796	1049	37	1		1	FCGBP	19	40398400	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	732343	40398400	18730583	780	2224										
ITPKC	80271	genome.wustl.edu	37	chr19	41243662	41243662	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggagatctcccccttcttCaagacccacgaggtgcgagc	10	15	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:41243662C>G	ENST00000263370.2	+	6	1869	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	612					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCCTTCTTCAAGACCCACG	0.537																																																	0													170	155	160					19																	41243662		2203	4300	6503	SO:0001583	missense	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1836C>G	19.37:g.41243662C>G	ENSP00000263370:p.Phe612Leu		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.F612L	ENST00000263370.2	37	c.1836	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250633	0.59212	.	.	ENSG00000086544	ENST00000263370	T	0.13089	2.62	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09400	-1.0676	10	0.87932	D	0	-20.3359	11.9524	0.52962	0.0:0.9191:0.0:0.0809	.	612	Q96DU7	IP3KC_HUMAN	L	612	ENSP00000263370:F612L	ENSP00000263370:F612L	F	+	3	2	ITPKC	45935502	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.219000	0.58561	2.740000	0.93945	0.650000	0.86243	TTC	ITPKC	-	pfam_IPK		0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	C	NM_025194		41243662	1	no_errors	ENST00000263370	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41243662	C	G	41243662	3	3	13	1	0	0	0	0	1	0	0	0	7939	825	29	1	1858	1	ITPKC	19	41243662	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	845262	41243662	17885321	781	2225										
ERF	2077	genome.wustl.edu	37	chr19	42753654	42753654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gccgggtggtcgggcgcgggGatcctctcccagcggttcct	17	14	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:42753654G>T	ENST00000222329.4	-	4	767	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.P129T	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	204					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGGGCGCGGGGATCCTCTCCC	0.697																																																	0													18	22	21					19																	42753654		2195	4292	6487	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.610C>A	19.37:g.42753654G>T	ENSP00000222329:p.Pro204Thr		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.P204T	ENST00000222329.4	37	c.610	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	G	0.309	-0.968891	0.02232	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.16897	3.31;2.31	4.63	3.6	0.41247	.	0.848600	0.09972	N	0.732108	T	0.09774	0.0240	N	0.08118	0	0.25366	N	0.988741	P	0.43477	0.808	B	0.41646	0.362	T	0.14309	-1.0477	10	0.16896	T	0.51	.	10.5731	0.45212	0.0947:0.0:0.9053:0.0	.	204	P50548	ERF_HUMAN	T	204;129	ENSP00000222329:P204T;ENSP00000388173:P129T	ENSP00000222329:P204T	P	-	1	0	ERF	47445494	1.000000	0.71417	0.991000	0.47740	0.023000	0.10783	6.450000	0.73477	1.324000	0.45282	0.655000	0.94253	CCC	ERF	-	NULL		0.697	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	G	NM_006494		42753654	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	missense	SNP	0.603	T	T	42753654	G	T	42753654	3	4	13	1	0	0	0	0	1	0	0	0	5233	1174	41	3	1040	3	ERF	19	42753654	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1509992	42753654	16375329	782	2226										
LYPD3	27076	genome.wustl.edu	37	chr19	43965504	43965504	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatttccaggtggagaagctCacagtaggacaccagcagcc	11	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:43965504C>T	ENST00000244333.3	-	5	1128	c.1040G>A	c.(1039-1041)tGa>tAa	p.*347*		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	0					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TGGAGAAGCTCACAGTAGGAC	0.592																																																	0													28	28	28					19																	43965504		2203	4300	6503	SO:0001819	synonymous_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.1040G>A	19.37:g.43965504C>T			Q9UJ74	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.*347	ENST00000244333.3	37	c.1040	CCDS12620.1	19																																																																																			LYPD3	-	NULL		0.592	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	C	NM_014400		43965504	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	silent	SNP	0.992	T	T	43965504	C	T	43965504	2	4	13	1	0	0	0	0	0	0	0	1	9134	837	29	1		1	LYPD3	19	43965504	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1211850	43965504	15163479	783	2227										
MYPOP	339344	genome.wustl.edu	37	chr19	46404855	46404855	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ataccgttgatcttggcggcGatgccgtcccacacgcgccg	12	15	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:46404855G>T	ENST00000322217.5	-	2	263	c.177C>A	c.(175-177)atC>atA	p.I59I		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	59	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						TCTTGGCGGCGATGCCGTCCC	0.677											OREG0032108	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																					0													20	19	19					19																	46404855		2198	4297	6495	SO:0001819	synonymous_variant	339344			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.177C>A	19.37:g.46404855G>T		939		Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I59	ENST00000322217.5	37	c.177	CCDS33055.1	19																																																																																			MYPOP	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.677	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYPOP	HGNC	protein_coding	OTTHUMT00000461684.1	G	NM_001012643		46404855	-1	no_errors	ENST00000322217	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46404855	G	T	46404855	2	4	13	1	0	0	0	0	0	0	0	1	10122	1048	37	3		3	MYPOP	19	46404855	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2439351	46404855	12724128	784	2228										
PRKD2	25865	genome.wustl.edu	37	chr19	47197277	47197277	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgccaggcatctcgcccacGaagtaggtggcattggcagt	13	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:47197277G>A	ENST00000291281.4	-	10	1656	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PRKD2_ENST00000601806.1_Silent_p.F320F|PRKD2_ENST00000595515.1_Silent_p.F477F|PRKD2_ENST00000600194.1_Silent_p.F320F|PRKD2_ENST00000433867.1_Silent_p.F477F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	477	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCTCGCCCACGAAGTAGGTGG	0.672																																																	0													64	53	57					19																	47197277		2203	4300	6503	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1431C>T	19.37:g.47197277G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F477	ENST00000291281.4	37	c.1431	CCDS12689.1	19																																																																																			PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.672	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	G	NM_016457		47197277	-1	no_errors	ENST00000291281	ensembl	human	known	70_37	silent	SNP	0.953	A	A	47197277	G	A	47197277	2	1	13	1	0	0	0	0	0	0	0	1	12546	1049	37	1		1	PRKD2	19	47197277	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	792422	47197277	11931706	785	2229										
EHD2	30846	genome.wustl.edu	37	chr19	48244575	48244575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgctggatgatgaggagttCgcgctggccagccacctcat	13	11	1	2	rs111452024		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:48244575C>T	ENST00000263277.3	+	6	1769	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.F370F	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	506	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ATGAGGAGTTCGCGCTGGCCA	0.667																																																	0													40	33	35					19																	48244575		2203	4300	6503	SO:0001819	synonymous_variant	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1518C>T	19.37:g.48244575C>T			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.F506	ENST00000263277.3	37	c.1518	CCDS12704.1	19																																																																																			EHD2	-	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology		0.667	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	C			48244575	1	no_errors	ENST00000263277	ensembl	human	known	70_37	silent	SNP	0.998	T	T	48244575	C	T	48244575	2	4	13	1	0	0	0	0	0	0	0	1	4988	883	31	1		1	EHD2	19	48244575	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1047298	48244575	10884408	786	2230										
PRR12	57479	genome.wustl.edu	37	chr19	50119130	50119130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctgagaagcccccagagcaGactcctgagacggccatgcc	11	15	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:50119130G>C	ENST00000418929.2	+	9	5163	c.5151G>C	c.(5149-5151)caG>caC	p.Q1717H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	896							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCAGAGCAGACTCCTGAGA	0.622																																																	0													29	36	33					19																	50119130		1914	4123	6037	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5151G>C	19.37:g.50119130G>C	ENSP00000394510:p.Gln1717His		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.Q1717H	ENST00000418929.2	37	c.5151	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	3.277	-0.147818	0.06627	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.9	0.384	0.16244	.	0.549745	0.15208	N	0.274615	T	0.15652	0.0377	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16041	-1.0416	9	0.51188	T	0.08	-14.8283	5.659	0.17658	0.2485:0.1431:0.6084:0.0	.	1717	Q9ULL5-3	.	H	1717;897;897	.	ENSP00000246798:Q897H	Q	+	3	2	PRR12	54810942	1.000000	0.71417	0.047000	0.18901	0.419000	0.31324	2.502000	0.45398	0.013000	0.14918	0.561000	0.74099	CAG	PRR12	-	NULL		0.622	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	G	NM_020719		50119130	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	0.241	C	C	50119130	G	C	50119130	3	2	13	1	0	0	0	0	1	0	0	0	12611	933	33	1	5185	1	PRR12	19	50119130	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1874555	50119130	9009853	787	2231										
KCNC3	3748	genome.wustl.edu	37	chr19	50831754	50831754	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gaaggagtcgagcgcctcctCagcgtcgcgatgctgccggt	15	13	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:50831754C>T	ENST00000477616.1	-	1	880	c.586G>A	c.(586-588)Gag>Aag	p.E196K	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.E196K|NR1H2_ENST00000542413.1_5'Flank	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	196					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	AGCGCCTCCTCAGCGTCGCGA	0.731																																					Melanoma(91;1496 2324 50908)												0													18	22	20					19																	50831754		2194	4290	6484	SO:0001583	missense	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.586G>A	19.37:g.50831754C>T	ENSP00000434241:p.Glu196Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.E196K	ENST00000477616.1	37	c.586	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	16.81	3.225211	0.58668	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98105	-4.72;-4.72	2.16	2.16	0.27623	BTB/POZ fold (1);	0.000000	0.28883	U	0.013829	D	0.97009	0.9023	L	0.35723	1.085	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95876	0.8895	10	0.87932	D	0	.	7.8828	0.29631	0.0:1.0:0.0:0.0	.	196	Q14003	KCNC3_HUMAN	K	196;196;10	ENSP00000366158:E196K;ENSP00000434241:E196K	ENSP00000366158:E196K	E	-	1	0	KCNC3	55523566	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	5.048000	0.64238	1.249000	0.43950	0.154000	0.16183	GAG	KCNC3	-	NULL		0.731	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	C	NM_004977		50831754	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50831754	C	T	50831754	3	4	13	1	0	0	0	0	1	0	0	0	8036	835	29	1	1703	1	KCNC3	19	50831754	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	712624	50831754	8297229	788	2232										
KCNC3	3748	genome.wustl.edu	37	chr19	50831779	50831779	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcgcgatgctgccggtaggtCatccagcagcaggcctccac	12	15	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:50831779C>T	ENST00000477616.1	-	1	855	c.561G>A	c.(559-561)atG>atA	p.M187I	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.M187I|NR1H2_ENST00000542413.1_5'Flank	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	187					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GCCGGTAGGTCATCCAGCAGC	0.721																																					Melanoma(91;1496 2324 50908)												0													26	30	29					19																	50831779		2203	4297	6500	SO:0001583	missense	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.561G>A	19.37:g.50831779C>T	ENSP00000434241:p.Met187Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.M187I	ENST00000477616.1	37	c.561	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	13.96	2.393354	0.42410	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.97831	-4.56;-4.56	2.28	2.28	0.28536	BTB/POZ-like (1);BTB/POZ fold (2);	0.231134	0.27778	U	0.017886	D	0.97480	0.9175	M	0.64404	1.975	0.80722	D	1	P	0.47191	0.891	P	0.57057	0.812	D	0.97122	0.9812	10	0.87932	D	0	.	10.3457	0.43906	0.0:1.0:0.0:0.0	.	187	Q14003	KCNC3_HUMAN	I	187;187;1	ENSP00000366158:M187I;ENSP00000434241:M187I	ENSP00000366158:M187I	M	-	3	0	KCNC3	55523591	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	6.618000	0.74214	1.317000	0.45149	0.154000	0.16183	ATG	KCNC3	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3		0.721	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	C	NM_004977		50831779	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50831779	C	T	50831779	3	4	13	1	0	0	0	0	1	0	0	0	8036	826	29	1	1728	1	KCNC3	19	50831779	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	25	50831779	8297204	789	2233										
LRRC4B	94030	genome.wustl.edu	37	chr19	51022613	51022613	+	Silent	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcgatcttgcgcaccaggttCttgctcagctgcagaatctc							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:51022613C>T	ENST00000599957.1	-	3	554	c.357G>A	c.(355-357)aaG>aaA	p.K119K	LRRC4B_ENST00000389201.3_Silent_p.K119K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	119					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACCAGGTTCTTGCTCAGCT	0.617																																																	0													35	37	37					19																	51022613		2129	4255	6384	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.357G>A	19.37:g.51022613C>T			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K119	ENST00000599957.1	37	c.357	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	C	NM_001080457		51022613	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51022613	C	T	51022613	2	4	13	1	0	0	0	0	0	0	0	1	9030	912	32	1		1	LRRC4B	19	51022613	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	190834	51022613	8106370	790	2234	11	2								
LRRC4B	94030	genome.wustl.edu	37	chr19	51022619	51022619	+	Silent	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgcgcaccaggttcttgctCagctgcagaatctccaggtg							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:51022619C>T	ENST00000599957.1	-	3	548	c.351G>A	c.(349-351)ctG>ctA	p.L117L	LRRC4B_ENST00000389201.3_Silent_p.L117L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	117					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTCTTGCTCAGCTGCAGAA	0.617																																																	0													34	36	35					19																	51022619		2119	4247	6366	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.351G>A	19.37:g.51022619C>T			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L117	ENST00000599957.1	37	c.351	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	C	NM_001080457		51022619	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	0.999	T	T	51022619	C	T	51022619	2	4	13	1	0	0	0	0	0	0	0	1	9030	813	29	1		1	LRRC4B	19	51022619	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6	51022619	8106364	791	2235	11	2								
KLK2	3817	genome.wustl.edu	37	chr19	51380002	51380002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcaggctggggcagcatcGaaccagaggagtgtacgcct	14	12	1	1	rs371591640		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:51380002G>A	ENST00000325321.3	+	3	706	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KLK2_ENST00000358049.4_Missense_Mutation_p.E161K|KLK2_ENST00000391810.2_Missense_Mutation_p.E59K|AC037199.1_ENST00000594218.1_5'Flank			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGCAGCATCGAACCAGAGGA	0.642			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	41	41	41		481,481	-6	0	19		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KLK2	NM_001002231.1,NM_005551.3	56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	161/224,161/262	51380002	2,13004	2203	4300	6503	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.481G>A	19.37:g.51380002G>A	ENSP00000313581:p.Glu161Lys		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E161K	ENST00000325321.3	37	c.481	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461142	0.12342	2.27E-4	1.16E-4	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	D;D;D	0.88354	-2.37;-2.37;-2.37	3.01	-6.02	0.02192	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.262420	0.02598	N	0.100780	T	0.76154	0.3948	N	0.20574	0.59	0.09310	N	1	B;B;B	0.18166	0.026;0.011;0.008	B;B;B	0.13407	0.009;0.002;0.002	T	0.70353	-0.4895	10	0.06365	T	0.9	.	7.4518	0.27242	0.1921:0.4951:0.3128:0.0	.	144;161;161	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	K	161;161;59	ENSP00000313581:E161K;ENSP00000350748:E161K;ENSP00000375686:E59K	ENSP00000313581:E161K	E	+	1	0	KLK2	56071814	.	.	0.000000	0.03702	0.105000	0.19272	.	.	-1.938000	0.01046	-0.714000	0.03626	GAA	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.642	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	G	NM_005551.3		51380002	1	no_errors	ENST00000325321	ensembl	human	known	70_37	missense	SNP	0.000	A	A	51380002	G	A	51380002	3	1	13	1	0	0	0	0	1	0	0	0	8424	1059	37	1	491	1	KLK2	19	51380002	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	357383	51380002	7748981	792	2236										
ZNF880	400713	genome.wustl.edu	37	chr19	52887111	52887111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcttttttagagagcagctCtaaattgggaagcaatgccg	10	7	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:52887111C>T	ENST00000422689.2	+	4	293	c.278C>T	c.(277-279)tCt>tTt	p.S93F	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	93					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAGAGCAGCTCTAAATTGGGA	0.408																																																	0													53	46	48					19																	52887111		692	1591	2283	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.278C>T	19.37:g.52887111C>T	ENSP00000406318:p.Ser93Phe		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S93F	ENST00000422689.2	37	c.278	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	C	1.629	-0.519379	0.04171	.	.	ENSG00000221923	ENST00000422689	T	0.06768	3.26	0.878	-1.76	0.08006	.	.	.	.	.	T	0.02455	0.0075	N	0.11818	0.18	0.09310	N	1	P	0.36647	0.563	B	0.20184	0.028	T	0.42649	-0.9439	9	0.09843	T	0.71	.	2.8955	0.05689	0.4237:0.3259:0.2505:0.0	.	93	Q6PDB4	ZN880_HUMAN	F	93	ENSP00000406318:S93F	ENSP00000406318:S93F	S	+	2	0	ZNF880	57578923	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.413000	0.07123	-1.282000	0.02396	-0.904000	0.02843	TCT	ZNF880	-	NULL		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	C	NM_001145434		52887111	1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.000	T	T	52887111	C	T	52887111	3	4	13	1	0	0	0	0	1	0	0	0	18227	913	32	1	292	1	ZNF880	19	52887111	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1507109	52887111	6241872	793	2237										
ZNF677	342926	genome.wustl.edu	37	chr19	53741588	53741588	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tattatgttgttgatcttttCtgtgagtgagatttttgtta	9	2	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:53741588C>G	ENST00000598513.1	-	5	542	c.392G>C	c.(391-393)aGa>aCa	p.R131T	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.R131T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R131K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358																																																	1	Substitution - Missense(1)	urinary_tract(1)											147	141	143					19																	53741588		2203	4299	6502	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.392G>C	19.37:g.53741588C>G	ENSP00000469391:p.Arg131Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R131T	ENST00000598513.1	37	c.392	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	C	7.207	0.594595	0.13875	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07688	3.17	2.29	2.29	0.28610	.	0.775970	0.10693	N	0.644974	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.46850	0.529	T	0.37820	-0.9689	10	0.27785	T	0.31	.	10.6967	0.45903	0.0:1.0:0.0:0.0	.	131	Q86XU0	ZN677_HUMAN	T	131	ENSP00000334394:R131T	ENSP00000334394:R131T	R	-	2	0	ZNF677	58433400	0.000000	0.05858	0.090000	0.20809	0.074000	0.17049	-0.097000	0.11042	1.592000	0.50018	0.655000	0.94253	AGA	ZNF677	-	NULL		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	C	NM_182609		53741588	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.118	G	G	53741588	C	G	53741588	3	3	13	1	0	0	0	0	1	0	0	0	18114	913	32	1	1366	1	ZNF677	19	53741588	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	854477	53741588	5387395	794	2238										
ZNF761	388561	genome.wustl.edu	37	chr19	53958418	53958418	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaatctttccaatgtaatgaGagtggcaaagcctttaatta	7	6	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:53958418G>A	ENST00000454407.1	+	0	1110							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATGTAATGAGAGTGGCAAAG	0.338																																																	0													102	105	104					19																	53958418		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958418G>A			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.338	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53958418	1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.245	A	A	53958418	G	A	53958418	1	1	13	0	1	0	0	0	0	0	0	0	18166	933	33	1		1	ZNF761	19	53958418	RNA	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	216830	53958418	5170565	795	2239										
NLRP13	126204	genome.wustl.edu	37	chr19	56424379	56424379	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	taccttattttatggcagctGagatagaaaacataggagaa	9	5	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56424379G>A	ENST00000342929.3	-	5	803	c.804C>T	c.(802-804)ctC>ctT	p.L268L	NLRP13_ENST00000588751.1_Silent_p.L268L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	268	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TATGGCAGCTGAGATAGAAAA	0.463																																																	0													61	65	64					19																	56424379		2203	4300	6503	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.804C>T	19.37:g.56424379G>A			Q7RTR5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L268	ENST00000342929.3	37	c.804	CCDS33119.1	19																																																																																			NLRP13	-	pfscan_NACHT_NTPase		0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	G	NM_176810		56424379	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	silent	SNP	0.523	A	A	56424379	G	A	56424379	2	1	13	1	0	0	0	0	0	0	0	1	10499	1277	45	1		1	NLRP13	19	56424379	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2465961	56424379	2704604	796	2240										
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56701340	56701340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcaggttccccttgtggctGaaaactttgctgcagtattt	9	9	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56701340G>A	ENST00000586855.2	-	5	1657	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ZSCAN5B_ENST00000358992.3_Silent_p.F448F			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	448					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTTGTGGCTGAAAACTTTGC	0.552																																																	0													91	91	91					19																	56701340		2074	4230	6304	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1344C>T	19.37:g.56701340G>A				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F448	ENST00000586855.2	37	c.1344	CCDS46203.1	19																																																																																			ZSCAN5B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	G	NM_001080456		56701340	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	silent	SNP	0.381	A	A	56701340	G	A	56701340	2	1	13	1	0	0	0	0	0	0	0	1	18269	1281	45	1		1	ZSCAN5B	19	56701340	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	276961	56701340	2427643	797	2241										
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56701869	56701869	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctctctccacaacgcaggcaGaaggtgtgtcagcatccaca	9	14	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56701869G>C	ENST00000586855.2	-	5	1128	c.815C>G	c.(814-816)tCt>tGt	p.S272C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S272C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	272					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGCAGGCAGAAGGTGTGTC	0.522																																																	0													133	129	130					19																	56701869		2203	4300	6503	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.815C>G	19.37:g.56701869G>C	ENSP00000466072:p.Ser272Cys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S272C	ENST00000586855.2	37	c.815	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433269	0.25813	.	.	ENSG00000197213	ENST00000358992	T	0.06371	3.31	1.86	-0.866	0.10659	.	.	.	.	.	T	0.09512	0.0234	M	0.76002	2.32	0.09310	N	1	P	0.49696	0.927	P	0.45946	0.498	T	0.17410	-1.0370	9	0.46703	T	0.11	.	3.4029	0.07330	0.18:0.2673:0.5526:0.0	.	272	A6NJL1	ZSA5B_HUMAN	C	272	ENSP00000351883:S272C	ENSP00000351883:S272C	S	-	2	0	ZSCAN5B	61393681	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.381000	0.07417	-0.092000	0.12417	0.306000	0.20318	TCT	ZSCAN5B	-	NULL		0.522	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	G	NM_001080456		56701869	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	missense	SNP	0.000	C	C	56701869	G	C	56701869	3	2	13	1	0	0	0	0	1	0	0	0	18269	942	33	1	676	1	ZSCAN5B	19	56701869	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	529	56701869	2427114	798	2242										
PEG3	5178	genome.wustl.edu	37	chr19	57333033	57333033	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcatacctgagatcgggactCataagccctggagtccctgt	11	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:57333033C>G	ENST00000326441.9	-	7	1018	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	ZIM2_ENST00000599935.1_Missense_Mutation_p.E94Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.E94Q|PEG3_ENST00000598410.1_Missense_Mutation_p.E94Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.E94Q|PEG3_ENST00000593695.1_Missense_Mutation_p.E93Q|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000601070.1_Missense_Mutation_p.E94Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.E94Q|PEG3_ENST00000423103.2_Missense_Mutation_p.E219Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	219					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GATCGGGACTCATAAGCCCTG	0.507																																																	0													187	164	172					19																	57333033		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.655G>C	19.37:g.57333033C>G	ENSP00000326581:p.Glu219Gln		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E219Q	ENST00000326441.9	37	c.655	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543706	0.45280	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.11604	2.76;2.76;3.88;3.88	3.57	2.54	0.30619	.	0.000000	0.41500	D	0.000877	T	0.13200	0.0320	N	0.24115	0.695	.	.	.	D;D;D;P	0.76494	0.997;0.994;0.999;0.614	P;P;D;B	0.64144	0.878;0.795;0.922;0.199	T	0.18650	-1.0330	9	0.22706	T	0.39	-23.2621	7.2734	0.26271	0.0:0.8792:0.0:0.1208	.	94;219;153;94	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	Q	94;94;219;219;219	ENSP00000375589:E94Q;ENSP00000221722:E94Q;ENSP00000326581:E219Q;ENSP00000403051:E219Q	ENSP00000221722:E94Q	E	-	1	0	ZIM2	62024845	0.000000	0.05858	0.013000	0.15412	0.125000	0.20455	0.228000	0.17814	1.118000	0.41863	-0.219000	0.12488	GAG	PEG3	-	NULL		0.507	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57333033	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.013	G	G	57333033	C	G	57333033	3	3	13	1	0	0	0	0	1	0	0	0	11744	835	29	1	4130	1	PEG3	19	57333033	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	631164	57333033	1795950	799	2243										
ZNF544	27300	genome.wustl.edu	37	chr19	58772988	58772988	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgctgccttccccatggcctCatctttttctgactgtaaca	6	14	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:58772988C>T	ENST00000596652.1	+	6	1250	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	ZNF544_ENST00000599953.1_Missense_Mutation_p.S197L|ZNF544_ENST00000600044.1_Missense_Mutation_p.S311L|ZNF544_ENST00000415203.2_Missense_Mutation_p.S311L|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.S311L|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.S339L|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S339L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CCCATGGCCTCATCTTTTTCT	0.473																																																	1	Substitution - Missense(1)	urinary_tract(1)											84	78	80					19																	58772988		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1016C>T	19.37:g.58772988C>T	ENSP00000469635:p.Ser339Leu		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S339L	ENST00000596652.1	37	c.1016	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583075	0.28268	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.17691	2.26;2.26	2.98	0.554	0.17241	.	.	.	.	.	T	0.14787	0.0357	L	0.59436	1.845	0.09310	N	1	P;B;B	0.43477	0.808;0.273;0.225	B;B;B	0.39590	0.304;0.067;0.067	T	0.18366	-1.0339	9	0.52906	T	0.07	.	3.5637	0.07892	0.367:0.4958:0.0:0.1372	.	311;311;339	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	L	339;311;3	ENSP00000269829:S339L;ENSP00000394341:S311L	ENSP00000269829:S339L	S	+	2	0	ZNF544	63464800	0.018000	0.18449	0.149000	0.22428	0.112000	0.19704	1.340000	0.33896	0.599000	0.29845	-0.126000	0.14955	TCA	ZNF544	-	NULL		0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	C	NM_014480		58772988	1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58772988	C	T	58772988	3	4	13	1	0	0	0	0	1	0	0	0	18007	838	29	1	1030	1	ZNF544	19	58772988	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1439955	58772988	355995	800	2244										
ANGPT4	51378	genome.wustl.edu	37	chr20	855045	855045	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctgctgagccgctgtacccGaccacagaaagcctggaggc	12	15	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:855045G>T	ENST00000381922.3	-	8	1335	c.1233C>A	c.(1231-1233)gtC>gtA	p.V411V	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	411	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CGCTGTACCCGACCACAGAAA	0.607																																					Pancreas(181;481 2077 3259 31286 49856)												0													65	59	61					20																	855045		2203	4300	6503	SO:0001819	synonymous_variant	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1233C>A	20.37:g.855045G>T			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V411	ENST00000381922.3	37	c.1233	CCDS13009.1	20																																																																																			ANGPT4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	G	NM_015985		855045	-1	no_errors	ENST00000381922	ensembl	human	known	70_37	silent	SNP	0.000	T	T	855045	G	T	855045	2	4	13	1	0	0	0	0	0	0	0	1	612	1045	37	3		3	ANGPT4	20	855045	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		855045	62170475	801	2245										
C20orf46	55321	genome.wustl.edu	37	chr20	1161999	1161999	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggcagtgaggagacacccccAgggggactgggtgagctgcc	18	11	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:1161999A>T	ENST00000381894.3	-	2	935	c.264T>A	c.(262-264)ccT>ccA	p.P88P	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	88						integral component of membrane (GO:0016021)											AGACACCCCCAGGGGGACTGG	0.632																																																	0													40	49	46					20																	1161999		2202	4300	6502	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.264T>A	20.37:g.1161999A>T			D3DVW5	Silent	SNP	NULL	p.P88	ENST00000381894.3	37	c.264	CCDS13011.1	20																																																																																			TMEM74B	-	NULL		0.632	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	A	NM_018354		1161999	-1	no_errors	ENST00000381894	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1161999	A	T	1161999	2	4	13	1	0	0	0	0	0	0	0	1	2118	175	7	5		5	C20orf46	20	1161999	Silent	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	306954	1161999	61863521	802	2246										
TMC2	117532	genome.wustl.edu	37	chr20	2539295	2539295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caggagcggggcgaggcagaGaggacctgcgagggcaggag	22	8	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:2539295G>C	ENST00000358864.1	+	3	291	c.276G>C	c.(274-276)gaG>gaC	p.E92D		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	92	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCGAGGCAGAGAGGACCTGCG	0.677																																																	0													24	25	24					20																	2539295		2190	4289	6479	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.276G>C	20.37:g.2539295G>C	ENSP00000351732:p.Glu92Asp		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.E92D	ENST00000358864.1	37	c.276	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	g	10.06	1.245736	0.22796	.	.	ENSG00000149488	ENST00000358864	T	0.50548	0.74	4.29	-0.12	0.13539	.	0.894418	0.09648	N	0.774014	T	0.38931	0.1059	L	0.59436	1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31024	-0.9958	10	0.32370	T	0.25	-3.2075	5.2672	0.15605	0.1984:0.3549:0.4467:0.0	.	92;92	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	D	92	ENSP00000351732:E92D	ENSP00000351732:E92D	E	+	3	2	TMC2	2487295	0.016000	0.18221	0.007000	0.13788	0.005000	0.04900	0.445000	0.21677	-0.073000	0.12842	-0.323000	0.08544	GAG	TMC2	-	NULL		0.677	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2539295	1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.041	C	C	2539295	G	C	2539295	3	2	13	1	0	0	0	0	1	0	0	0	16015	933	33	1	286	1	TMC2	20	2539295	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1377296	2539295	60486225	803	2247										
MCM8	84515	genome.wustl.edu	37	chr20	5974260	5974260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaaagatttatttctgctctCaacaacgttgctgaaagaac	6	8	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:5974260C>T	ENST00000378896.3	+	18	2726	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L	MCM8_ENST00000378886.2_Silent_p.L823L|MCM8_ENST00000265187.4_Silent_p.L767L|MCM8_ENST00000378883.1_Silent_p.L736L	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	783					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTCTGCTCTCAACAACGTTG	0.358																																																	0													58	63	62					20																	5974260		2203	4300	6503	SO:0001819	synonymous_variant	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2349C>T	20.37:g.5974260C>T			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.L823	ENST00000378896.3	37	c.2469	CCDS13094.1	20																																																																																			MCM8	-	NULL		0.358	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	C	NM_032485		5974260	1	no_errors	ENST00000378886	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5974260	C	T	5974260	2	4	13	1	0	0	0	0	0	0	0	1	9416	813	29	1		1	MCM8	20	5974260	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3434965	5974260	57051260	804	2248										
SPTLC3	55304	genome.wustl.edu	37	chr20	13090773	13090773	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttaaagacacacaaagcctaGagaagctcctgagagatgct	9	9	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:13090773G>C	ENST00000399002.2	+	7	1115	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E281Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	281					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ACAAAGCCTAGAGAAGCTCCT	0.398																																																	0													54	53	53					20																	13090773		1835	4095	5930	SO:0001583	missense	55304			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.841G>C	20.37:g.13090773G>C	ENSP00000381968:p.Glu281Gln		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E281Q	ENST00000399002.2	37	c.841	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	G	31	5.077385	0.94000	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.96716	-4.1;-4.1	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99198	1.0872	10	0.87932	D	0	-25.4722	20.1162	0.97934	0.0:0.0:1.0:0.0	.	281	Q9NUV7	SPTC3_HUMAN	Q	281	ENSP00000381968:E281Q;ENSP00000367436:E281Q	ENSP00000367436:E281Q	E	+	1	0	SPTLC3	13038773	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.419000	0.97397	2.757000	0.94681	0.563000	0.77884	GAG	SPTLC3	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.398	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	G	NM_018327		13090773	1	no_errors	ENST00000399002	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13090773	G	C	13090773	3	2	13	1	0	0	0	0	1	0	0	0	15155	943	33	1	867	1	SPTLC3	20	13090773	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	7116513	13090773	49934747	805	2249										
RALGAPB	57148	genome.wustl.edu	37	chr20	37195831	37195831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aacagccatccctgacacttGagcttttccccaatcataca	4	15	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:37195831G>C	ENST00000262879.6	+	26	4194	c.3910G>C	c.(3910-3912)Gag>Cag	p.E1304Q	RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1301Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E1083Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1304Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1304	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGACACTTGAGCTTTTCCC	0.388																																																	0													135	124	128					20																	37195831		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3910G>C	20.37:g.37195831G>C	ENSP00000262879:p.Glu1304Gln		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E1304Q	ENST00000262879.6	37	c.3910	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860121	0.91433	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.25	5.25	0.73442	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.64404	1.975	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.76143	-0.3067	9	0.40728	T	0.16	.	18.8563	0.92254	0.0:0.0:1.0:0.0	.	1301;1304	A2A2E9;Q86X10	.;RLGPB_HUMAN	Q	1304;1301;1083;1304;1133	.	ENSP00000262879:E1304Q	E	+	1	0	RALGAPB	36629245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.474000	0.97718	2.451000	0.82905	0.655000	0.94253	GAG	RALGAPB	-	pfscan_Rap_GAP		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	G	NM_020336		37195831	1	no_errors	ENST00000262879	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37195831	G	C	37195831	3	2	13	1	0	0	0	0	1	0	0	0	13045	1291	45	1	4008	1	RALGAPB	20	37195831	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	24105058	37195831	25829689	806	2250										
MAFB	9935	genome.wustl.edu	37	chr20	39316690	39316690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atgagctgcgtcttctcattCtccaggtggtgcttctgctg	11	11	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:39316690C>G	ENST00000373313.2	-	1	1190	c.801G>C	c.(799-801)gaG>gaC	p.E267D	MAFB_ENST00000396967.1_Missense_Mutation_p.E267D	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	267	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TCTTCTCATTCTCCAGGTGGT	0.597			T	IGH@	MM																																			Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	0													62	63	63					20																	39316690		2203	4300	6503	SO:0001583	missense	9935			AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"Kreisler (mouse) maf-related leucine zipper homolog"	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.801G>C	20.37:g.39316690C>G	ENSP00000362410:p.Glu267Asp		B3KNE1|Q9H1F1	Missense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E267D	ENST00000373313.2	37	c.801	CCDS13311.1	20	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478254	0.63849	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.92149	-2.98;-2.98	3.91	2.87	0.33458	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95944	0.8949	10	0.66056	D	0.02	-7.9356	12.0259	0.53371	0.0:0.8986:0.0:0.1014	.	267	Q9Y5Q3	MAFB_HUMAN	D	267	ENSP00000362410:E267D;ENSP00000380167:E267D	ENSP00000362410:E267D	E	-	3	2	MAFB	38750104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.888000	0.69758	2.050000	0.60909	0.456000	0.33151	GAG	MAFB	-	pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP		0.597	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFB	HGNC	protein_coding	OTTHUMT00000080375.2	C			39316690	-1	no_errors	ENST00000373313	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39316690	C	G	39316690	3	3	13	1	0	0	0	0	1	0	0	0	9181	912	32	1	174	1	MAFB	20	39316690	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2120859	39316690	23708830	807	2251										
PTPRT	11122	genome.wustl.edu	37	chr20	41400150	41400150	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtggcattctgccccacattCacctccacgttttggagtcg	9	14	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:41400150C>T	ENST00000373187.1	-	5	608	c.609G>A	c.(607-609)gtG>gtA	p.V203V	PTPRT_ENST00000356100.2_Silent_p.V203V|PTPRT_ENST00000373201.1_Silent_p.V203V|PTPRT_ENST00000373193.3_Silent_p.V203V|PTPRT_ENST00000373190.1_Silent_p.V203V|PTPRT_ENST00000373184.1_Silent_p.V203V|PTPRT_ENST00000373198.4_Silent_p.V203V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	203	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCCACATTCACCTCCACGT	0.493																																																	0													176	160	165					20																	41400150		1980	4168	6148	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.609G>A	20.37:g.41400150C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V203	ENST00000373187.1	37	c.609	CCDS42874.1	20																																																																																			PTPRT	-	pfscan_Ig-like		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			41400150	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.999	T	T	41400150	C	T	41400150	2	4	13	1	0	0	0	0	0	0	0	1	12842	813	29	1		1	PTPRT	20	41400150	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2083460	41400150	21625370	808	2252										
PTPRT	11122	genome.wustl.edu	37	chr20	41408922	41408922	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccaggatgacccttcaatgaGacggattcaaatatcacctg	8	11	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:41408922G>C	ENST00000373187.1	-	4	503	c.504C>G	c.(502-504)gtC>gtG	p.V168V	PTPRT_ENST00000356100.2_Silent_p.V168V|PTPRT_ENST00000373201.1_Silent_p.V168V|PTPRT_ENST00000373193.3_Silent_p.V168V|PTPRT_ENST00000373190.1_Silent_p.V168V|PTPRT_ENST00000373184.1_Silent_p.V168V|PTPRT_ENST00000373198.4_Silent_p.V168V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	168	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTTCAATGAGACGGATTCAA	0.537																																																	0													105	103	104					20																	41408922		2061	4193	6254	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.504C>G	20.37:g.41408922G>C			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V168	ENST00000373187.1	37	c.504	CCDS42874.1	20																																																																																			PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			41408922	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.998	C	C	41408922	G	C	41408922	2	2	13	1	0	0	0	0	0	0	0	1	12842	929	33	1		1	PTPRT	20	41408922	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8772	41408922	21616598	809	2253										
NFATC2	4773	genome.wustl.edu	37	chr20	50133469	50133469	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggacagcggccactcaagtgGagggagggatgcagtcactg	17	9	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:50133469G>C	ENST00000396009.3	-	3	1405	c.1186C>G	c.(1186-1188)Cca>Gca	p.P396A	NFATC2_ENST00000609507.1_Missense_Mutation_p.P177A|NFATC2_ENST00000610033.1_Missense_Mutation_p.P177A|NFATC2_ENST00000609943.1_Missense_Mutation_p.P376A|NFATC2_ENST00000414705.1_Missense_Mutation_p.P376A|NFATC2_ENST00000371564.3_Missense_Mutation_p.P396A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	396	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CACTCAAGTGGAGGGAGGGAT	0.502																																																	0													42	39	40					20																	50133469		2203	4300	6503	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1186C>G	20.37:g.50133469G>C	ENSP00000379330:p.Pro396Ala		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P396A	ENST00000396009.3	37	c.1186	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	6.300	0.423465	0.11928	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.18502	2.21;2.21;2.24	5.18	5.18	0.71444	Rel homology (1);	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	L	0.28344	0.845	0.58432	D	0.999992	B;D;B;B	0.76494	0.319;0.999;0.319;0.319	B;D;B;B	0.72982	0.053;0.979;0.053;0.043	T	0.04216	-1.0968	10	0.13853	T	0.58	-8.2745	18.723	0.91703	0.0:0.0:1.0:0.0	.	376;376;396;396	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	A	396;396;177;376	ENSP00000360619:P396A;ENSP00000379330:P396A;ENSP00000396471:P376A	ENSP00000360619:P396A	P	-	1	0	NFATC2	49566876	1.000000	0.71417	0.874000	0.34290	0.232000	0.25224	3.460000	0.53028	2.420000	0.82092	0.603000	0.83216	CCA	NFATC2	-	pfscan_RHD		0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	G	NM_012340		50133469	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	0.998	C	C	50133469	G	C	50133469	3	2	13	1	0	0	0	0	1	0	0	0	10386	1174	41	1	1671	1	NFATC2	20	50133469	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8724547	50133469	12892051	810	2254										
C20orf108	116151	genome.wustl.edu	37	chr20	54941154	54941154	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gacatgcctgcaatcctgctGaaactcggatttaaagagtc	9	10	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:54941154G>A	ENST00000371384.3	+	3	481	c.390G>A	c.(388-390)ctG>ctA	p.L130L		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	130	DUF1279.					integral component of membrane (GO:0016021)											CAATCCTGCTGAAACTCGGAT	0.448																																																	0													70	68	69					20																	54941154		2203	4300	6503	SO:0001819	synonymous_variant	116151			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.390G>A	20.37:g.54941154G>A			B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Silent	SNP	pfam_DUF1279	p.L130	ENST00000371384.3	37	c.390	CCDS13450.1	20																																																																																			FAM210B	-	pfam_DUF1279		0.448	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM210B	HGNC	protein_coding	OTTHUMT00000079800.2	G	NM_080821		54941154	1	no_errors	ENST00000371384	ensembl	human	known	70_37	silent	SNP	0.734	A	A	54941154	G	A	54941154	2	1	13	1	0	0	0	0	0	0	0	1	2083	1277	45	1		1	C20orf108	20	54941154	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4807685	54941154	8084366	811	2255										
COL9A3	1299	genome.wustl.edu	37	chr20	61453150	61453150	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cccccaggtgggatcggcctCcgcggccccccggtgagtgg	16	17	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:61453150C>T	ENST00000343916.3	+	8	414	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	137	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGATCGGCCTCCGCGGCCCCC	0.692																																																	0													14	17	16					20																	61453150		2191	4291	6482	SO:0001819	synonymous_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.411C>T	20.37:g.61453150C>T			Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.L137	ENST00000343916.3	37	c.411	CCDS13505.1	20																																																																																			COL9A3	-	pfam_Collagen		0.692	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61453150	1	no_errors	ENST00000343916	ensembl	human	known	70_37	silent	SNP	0.990	T	T	61453150	C	T	61453150	2	4	13	1	0	0	0	0	0	0	0	1	3714	842	30	1		1	COL9A3	20	61453150	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	6511996	61453150	1572370	812	2256										
ZBTB46	140685	genome.wustl.edu	37	chr20	62378450	62378450	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgggtcctcagggtcctccaGatagggcccgtcgcctggga	15	13	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:62378450G>C	ENST00000245663.4	-	5	1753	c.1603C>G	c.(1603-1605)Ctg>Gtg	p.L535V	ZBTB46_ENST00000302995.2_Missense_Mutation_p.L535V|RP4-583P15.10_ENST00000433905.2_RNA|ZBTB46_ENST00000395104.1_Missense_Mutation_p.L535V|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	535					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGGTCCTCCAGATAGGGCCCG	0.721																																																	0													25	26	25					20																	62378450		2200	4295	6495	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1603C>G	20.37:g.62378450G>C	ENSP00000245663:p.Leu535Val		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L535V	ENST00000245663.4	37	c.1603	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	G	7.791	0.711621	0.15306	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.10382	2.88;2.88;2.88	4.19	1.99	0.26369	.	0.332441	0.26086	N	0.026439	T	0.05410	0.0143	L	0.27053	0.805	0.30360	N	0.783897	B	0.26363	0.147	B	0.26310	0.068	T	0.36383	-0.9750	10	0.02654	T	1	.	6.2871	0.21039	0.1151:0.0:0.6246:0.2603	.	535	Q86UZ6	ZBT46_HUMAN	V	535	ENSP00000245663:L535V;ENSP00000303102:L535V;ENSP00000378536:L535V	ENSP00000245663:L535V	L	-	1	2	ZBTB46	61848894	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	1.752000	0.38349	0.734000	0.32515	0.462000	0.41574	CTG	ZBTB46	-	NULL		0.721	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	G	NM_025224		62378450	-1	no_errors	ENST00000245663	ensembl	human	known	70_37	missense	SNP	0.986	C	C	62378450	G	C	62378450	3	2	13	1	0	0	0	0	1	0	0	0	17577	933	33	1	170	1	ZBTB46	20	62378450	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	925300	62378450	647070	813	2257										
DOPEY2	9980	genome.wustl.edu	37	chr21	37591770	37591770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttaaacttagctacacccaGagtggaaattcgctgataag	8	9	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:37591770G>C	ENST00000399151.3	+	10	1315	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	410					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTACACCCAGAGTGGAAATT	0.458																																																	0													147	129	135					21																	37591770		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1230G>C	21.37:g.37591770G>C	ENSP00000382104:p.Gln410His		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.Q410H	ENST00000399151.3	37	c.1230	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352156	0.61183	.	.	ENSG00000142197	ENST00000399151	T	0.12569	2.67	5.61	2.73	0.32206	.	0.304317	0.34580	N	0.003844	T	0.27419	0.0673	M	0.68317	2.08	0.33461	D	0.584914	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.962	T	0.31668	-0.9935	10	0.51188	T	0.08	.	4.5586	0.12149	0.1923:0.2129:0.5948:0.0	.	410;410	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	410	ENSP00000382104:Q410H	ENSP00000382104:Q410H	Q	+	3	2	DOPEY2	36513640	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.139000	0.31504	1.342000	0.45619	0.558000	0.71614	CAG	DOPEY2	-	NULL		0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37591770	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37591770	G	C	37591770	3	2	13	1	0	0	0	0	1	0	0	0	4718	933	33	1	1264	1	DOPEY2	21	37591770	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		37591770	10538125	814	2258										
MORC3	23515	genome.wustl.edu	37	chr21	37741550	37741550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actggttcaacaagcacctcAtcatcccgatgcgaccaggg	9	14	3	0	rs532768592	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:37741550A>G	ENST00000400485.1	+	15	1960	c.1884A>G	c.(1882-1884)tcA>tcG	p.S628S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	628					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CAAGCACCTCATCATCCCGAT	0.453													A|||	15	0.00299521	0	0	5008	,	,		20777	0		0	False		,,,				2504	0.0153																0													211	205	207					21																	37741550		2118	4236	6354	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1884A>G	21.37:g.37741550A>G			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S628	ENST00000400485.1	37	c.1884	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	A	NM_015358		37741550	1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.000	G	G	37741550	A	G	37741550	2	3	13	1	0	0	0	0	0	0	0	1	9726	204	8	5		5	MORC3	21	37741550	Silent	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	149780	37741550	10388345	815	2259										
BRWD1	54014	genome.wustl.edu	37	chr21	40619650	40619650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcttacagagcttgaagactCatttccagaagataactcac	6	10	3	5			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:40619650C>T	ENST00000333229.2	-	21	2785	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E820K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E820K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	820					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTGAAGACTCATTTCCAGAA	0.333																																					Melanoma(170;988 1986 4794 16843 39731)												0													93	87	89					21																	40619650		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2458G>A	21.37:g.40619650C>T	ENSP00000330753:p.Glu820Lys		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E820K	ENST00000333229.2	37	c.2458	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781780	0.70222	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56776	0.44;0.47;0.54	5.44	5.44	0.79542	.	0.254929	0.32836	N	0.005592	T	0.44350	0.1289	L	0.47716	1.5	0.80722	D	1	B;P	0.40970	0.317;0.734	B;B	0.37731	0.108;0.257	T	0.41016	-0.9532	10	0.42905	T	0.14	-11.3617	10.6796	0.45807	0.0:0.9116:0.0:0.0884	.	820;820	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	820	ENSP00000330753:E820K;ENSP00000344333:E820K;ENSP00000370178:E820K	ENSP00000330753:E820K	E	-	1	0	BRWD1	39541520	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.517000	0.45529	2.711000	0.92665	0.591000	0.81541	GAG	BRWD1	-	NULL		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40619650	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40619650	C	T	40619650	3	4	13	1	0	0	0	0	1	0	0	0	1528	835	29	1	4831	1	BRWD1	21	40619650	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2878100	40619650	7510245	816	2260										
PRDM15	63977	genome.wustl.edu	37	chr21	43223066	43223066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttcggccaaatcctcctgctCcagagtcagctcaggctgca	9	15	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:43223066C>T	ENST00000269844.3	-	30	3957	c.3847G>A	c.(3847-3849)Gag>Aag	p.E1283K	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.E974K|PRDM15_ENST00000398548.1_Missense_Mutation_p.E954K|PRDM15_ENST00000538201.1_Missense_Mutation_p.E937K|PRDM15_ENST00000447207.2_Missense_Mutation_p.E917K	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCCTCCTGCTCCAGAGTCAGC	0.612																																																	0													107	118	114					21																	43223066		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3847G>A	21.37:g.43223066C>T	ENSP00000269844:p.Glu1283Lys		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1283K	ENST00000269844.3	37	c.3847	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	33	5.221532	0.95139	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08720	3.16;3.15;3.14;3.13;3.06	4.9	4.9	0.64082	.	.	.	.	.	T	0.12178	0.0296	L	0.27053	0.805	0.51767	D	0.99993	P;B;D	0.58268	0.89;0.18;0.982	B;B;P	0.51266	0.318;0.094;0.664	T	0.05500	-1.0881	9	0.46703	T	0.11	-26.6435	17.092	0.86624	0.0:1.0:0.0:0.0	.	1283;974;954	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	K	974;954;937;917;1283	ENSP00000408592:E974K;ENSP00000381556:E954K;ENSP00000444044:E937K;ENSP00000390245:E917K;ENSP00000269844:E1283K	ENSP00000269844:E1283K	E	-	1	0	PRDM15	42096135	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	5.322000	0.65852	2.266000	0.75297	0.479000	0.44913	GAG	PRDM15	-	NULL		0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		C	NM_022115		43223066	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43223066	C	T	43223066	3	4	13	1	0	0	0	0	1	0	0	0	12483	864	30	1	684	1	PRDM15	21	43223066	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2603416	43223066	4906829	817	2261										
C2CD2	25966	genome.wustl.edu	37	chr21	43334767	43334767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cctcaccagtagcttcagctCgtgagcccttggaggtttag	11	12	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:43334767C>T	ENST00000380486.3	-	6	1025	c.784G>A	c.(784-786)Gag>Aag	p.E262K	C2CD2_ENST00000329623.7_Missense_Mutation_p.E107K	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	262						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCTTCAGCTCGTGAGCCCTT	0.527																																																	0													111	94	99					21																	43334767		2203	4300	6503	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.784G>A	21.37:g.43334767C>T	ENSP00000369853:p.Glu262Lys		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E262K	ENST00000380486.3	37	c.784	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341763	0.24339	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.75704	-0.96;-0.96	5.51	3.36	0.38483	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313935	0.33631	N	0.004705	T	0.56673	0.2001	N	0.25647	0.755	0.45025	D	0.998046	B;B	0.31413	0.322;0.233	B;B	0.24394	0.036;0.053	T	0.52711	-0.8539	10	0.14252	T	0.57	-8.5805	12.9951	0.58642	0.0:0.8441:0.0:0.1559	.	107;262	Q6P6D1;Q9Y426	.;CU025_HUMAN	K	107;262	ENSP00000329302:E107K;ENSP00000369853:E262K	ENSP00000329302:E107K	E	-	1	0	C2CD2	42207836	0.998000	0.40836	0.019000	0.16419	0.009000	0.06853	3.911000	0.56378	1.329000	0.45376	0.655000	0.94253	GAG	C2CD2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.527	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	C	NM_015500		43334767	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	missense	SNP	0.865	T	T	43334767	C	T	43334767	3	4	13	1	0	0	0	0	1	0	0	0	2157	893	31	1	1342	1	C2CD2	21	43334767	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	111701	43334767	4795128	818	2262										
TRAPPC10	7109	genome.wustl.edu	37	chr21	45472274	45472274	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atagttgaaaatgatgccaaGaaaaaaaacaaaaccaacat	5	6	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:45472274G>C	ENST00000291574.4	+	4	574	c.399G>C	c.(397-399)aaG>aaC	p.K133N	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.K133N	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	133					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACA	0.358																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.399G>C	21.37:g.45472274G>C	ENSP00000291574:p.Lys133Asn		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.K133N	ENST00000291574.4	37	c.399	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833853	0.71258	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.31247	1.5;1.5	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.57536	1.79	0.80722	D	1	D;P	0.60575	0.988;0.952	D;P	0.63192	0.912;0.6	T	0.42515	-0.9447	10	0.36615	T	0.2	.	18.3812	0.90452	0.0:0.0:1.0:0.0	.	133;133	P48553;Q86SI7	TPC10_HUMAN;.	N	133	ENSP00000369570:K133N;ENSP00000291574:K133N	ENSP00000291574:K133N	K	+	3	2	TRAPPC10	44296702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.559000	0.60796	2.401000	0.81631	0.591000	0.81541	AAG	TRAPPC10	-	NULL		0.358	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	G	NM_003274		45472274	1	no_errors	ENST00000291574	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45472274	G	C	45472274	3	2	13	1	0	0	0	0	1	0	0	0	16488	933	33	1	413	1	TRAPPC10	21	45472274	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2137507	45472274	2657621	819	2263										
KRTAP10-5	386680	genome.wustl.edu	37	chr21	46000241	46000241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcaagccggctggcagcacGagggcgtgcaggagctggtg	19	10	0	0	rs587619616		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:46000241G>A	ENST00000400372.1	-	1	240	c.215C>T	c.(214-216)tCg>tTg	p.S72L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	72	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ctggcagcacgagggcgtgca	0.697													.|||	1	0.000199681	0	0	5008	,	,		17850	0		0	False		,,,				2504	0.001																0													45	48	47					21																	46000241		2201	4295	6496	SO:0001583	missense	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.215C>T	21.37:g.46000241G>A	ENSP00000383223:p.Ser72Leu		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.S72L	ENST00000400372.1	37	c.215	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	g	2.782	-0.253388	0.05829	.	.	ENSG00000241123	ENST00000400372	T	0.00922	5.54	2.06	-1.21	0.09524	.	.	.	.	.	T	0.01029	0.0034	M	0.73217	2.22	0.09310	N	1	P	0.42518	0.782	B	0.29267	0.1	T	0.44967	-0.9293	9	0.45353	T	0.12	.	4.9855	0.14187	0.5627:0.0:0.4373:0.0	.	72	P60370	KR105_HUMAN	L	72	ENSP00000383223:S72L	ENSP00000383223:S72L	S	-	2	0	KRTAP10-5	44824669	0.992000	0.36948	0.405000	0.26409	0.004000	0.04260	-0.235000	0.09016	-0.172000	0.10779	-0.403000	0.06358	TCG	KRTAP10-5	-	NULL		0.697	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	G			46000241	-1	no_errors	ENST00000400372	ensembl	human	known	70_37	missense	SNP	0.037	A	A	46000241	G	A	46000241	3	1	13	1	0	0	0	0	1	0	0	0	8532	1059	37	1	604	1	KRTAP10-5	21	46000241	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	527967	46000241	2129654	820	2264										
COL6A1	1291	genome.wustl.edu	37	chr21	47421214	47421214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgttcgtgctggacagctcaGagagcattggcctgcagaac	13	10	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:47421214G>C	ENST00000361866.3	+	30	1984	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	624	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGACAGCTCAGAGAGCATTGG	0.647																																																	0													119	116	117					21																	47421214		2203	4300	6503	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1870G>C	21.37:g.47421214G>C	ENSP00000355180:p.Glu624Gln		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E624Q	ENST00000361866.3	37	c.1870	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784370	0.90282	.	.	ENSG00000142156	ENST00000361866	D	0.83992	-1.79	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90369	0.4379	10	0.46703	T	0.11	-0.1674	18.7225	0.91700	0.0:0.0:1.0:0.0	.	624	P12109	CO6A1_HUMAN	Q	624	ENSP00000355180:E624Q	ENSP00000355180:E624Q	E	+	1	0	COL6A1	46245642	1.000000	0.71417	0.943000	0.38184	0.697000	0.40408	8.667000	0.91153	2.432000	0.82394	0.544000	0.68410	GAG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.647	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	G	NM_001848		47421214	1	no_errors	ENST00000361866	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47421214	G	C	47421214	3	2	13	1	0	0	0	0	1	0	0	0	3704	943	33	1	1988	1	COL6A1	21	47421214	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1420973	47421214	708681	821	2265										
GAB4	128954	genome.wustl.edu	37	chr22	17444720	17444720	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggaaatgcagatgccgggttCtgctgtcacaaggaggaaaa	14	7	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:17444720C>T	ENST00000400588.1	-	9	1584		c.e9-1			NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATGCCGGGTTCTGCTGTCACA	0.592																																																	0													38	44	42					22																	17444720		1993	4196	6189	SO:0001630	splice_region_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1477-1G>A	22.37:g.17444720C>T				Splice_Site	SNP	-	e9-1	ENST00000400588.1	37	c.1477-1	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	2.020	-0.424854	0.04734	.	.	ENSG00000215568	ENST00000400588	.	.	.	2.29	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4797	0.16717	0.0:0.161:0.0:0.839	.	.	.	.	.	-1	.	.	.	-	.	.	GAB4	15824720	1.000000	0.71417	0.884000	0.34674	0.010000	0.07245	4.001000	0.57046	0.308000	0.22923	-0.490000	0.04691	.	GAB4	-	-		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	C	XM_372882	Intron	17444720	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	17444720	C	T	17444720	5	4	13	1	0	0	0	0	0	0	1	0	6169	927	32	1	256	1	GAB4	22	17444720	Splice_Site	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09		17444720	33859846	822	2266										
USP18	11274	genome.wustl.edu	37	chr22	18640517	18640517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccggcagatcttgaagaaaaGaaggaagaagacagcaacat	11	7	1	6			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:18640517G>C	ENST00000215794.7	+	2	517	c.87G>C	c.(85-87)aaG>aaC	p.K29N		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	29					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TTGAAGAAAAGAAGGAAGAAG	0.547											OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													144	146	145					22																	18640517		2203	4300	6503	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.87G>C	22.37:g.18640517G>C	ENSP00000215794:p.Lys29Asn	727	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K29N	ENST00000215794.7	37	c.87	CCDS13752.1	22	.	.	.	.	.	.	.	.	.	.	.	11.26	1.587223	0.28268	.	.	ENSG00000184979	ENST00000215794	T	0.07444	3.19	4.1	0.473	0.16763	.	0.769234	0.11407	N	0.567209	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47289	-0.9129	10	0.16420	T	0.52	.	3.6355	0.08147	0.1863:0.0:0.6063:0.2074	.	29	Q9UMW8	UBP18_HUMAN	N	29	ENSP00000215794:K29N	ENSP00000215794:K29N	K	+	3	2	USP18	17020517	0.672000	0.27530	0.023000	0.16930	0.358000	0.29455	0.836000	0.27545	0.145000	0.18977	0.591000	0.81541	AAG	USP18	-	NULL		0.547	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP18	HGNC	protein_coding	OTTHUMT00000316368.1	G			18640517	1	no_errors	ENST00000215794	ensembl	human	known	70_37	missense	SNP	0.032	C	C	18640517	G	C	18640517	3	2	13	1	0	0	0	0	1	0	0	0	17080	933	33	1	89	1	USP18	22	18640517	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1195797	18640517	32664049	823	2267										
PI4KA	5297	genome.wustl.edu	37	chr22	21119958	21119958	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aaccgaggcttagcttctttGatgggtggcagtcgtcgggt	15	8	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:21119958G>A	ENST00000572273.1	-	20	2408	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	PI4KA_ENST00000255882.6_Silent_p.I784I|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	726					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TAGCTTCTTTGATGGGTGGCA	0.517																																					GBM(136;1332 1831 3115 23601 50806)												0													98	92	94					22																	21119958		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2178C>T	22.37:g.21119958G>A			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.I784	ENST00000572273.1	37	c.2352		22																																																																																			PI4KA	-	superfamily_ARM-type_fold		0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		G	NM_058004		21119958	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21119958	G	A	21119958	2	1	13	1	0	0	0	0	0	0	0	1	11897	1280	45	1		1	PI4KA	22	21119958	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2479441	21119958	30184608	824	2268										
SLC7A4	6545	genome.wustl.edu	37	chr22	21385937	21385937	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acggcacctgtgagcacgtaGagacccgagcccaccatgcc	11	16	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:21385937G>C	ENST00000382932.2	-	2	232	c.165C>G	c.(163-165)ctC>ctG	p.L55L	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.L55L|MIR649_ENST00000384843.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	55					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGCACGTAGAGACCCGAGC	0.667																																																	0													75	59	65					22																	21385937		2202	4300	6502	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.165C>G	22.37:g.21385937G>C			Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.L55	ENST00000382932.2	37	c.165	CCDS33608.1	22																																																																																			SLC7A4	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.667	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	G	NM_004173		21385937	-1	no_errors	ENST00000382932	ensembl	human	known	70_37	silent	SNP	0.945	C	C	21385937	G	C	21385937	2	2	13	1	0	0	0	0	0	0	0	1	14729	929	33	1		1	SLC7A4	22	21385937	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	265979	21385937	29918629	825	2269										
PPM1F	9647	genome.wustl.edu	37	chr22	22287817	22287817	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtgcgccggaaggcttctctGagggctccctcagggtctgt	15	12	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:22287817G>C	ENST00000263212.5	-	5	798	c.693C>G	c.(691-693)ctC>ctG	p.L231L	PPM1F_ENST00000397495.4_Silent_p.L231L|PPM1F_ENST00000407142.1_Silent_p.L63L|PPM1F_ENST00000538191.1_Silent_p.L127L	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	231					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCTTCTCTGAGGGCTCCCT	0.647																																																	0													60	55	57					22																	22287817		2203	4300	6503	SO:0001819	synonymous_variant	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.693C>G	22.37:g.22287817G>C			A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L231	ENST00000263212.5	37	c.693	CCDS13796.1	22																																																																																			PPM1F	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.647	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	G	NM_014634		22287817	-1	no_errors	ENST00000263212	ensembl	human	known	70_37	silent	SNP	0.000	C	C	22287817	G	C	22287817	2	2	13	1	0	0	0	0	0	0	0	1	12366	1277	45	1		1	PPM1F	22	22287817	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	901880	22287817	29016749	826	2270										
BCR	613	genome.wustl.edu	37	chr22	23610658	23610658	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagttgccatggaaatggctGagaagtgctgtcaggccaat	14	7	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:23610658G>C	ENST00000305877.8	+	5	2567	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	BCR_ENST00000359540.3_Missense_Mutation_p.E606Q	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	606	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GGAAATGGCTGAGAAGTGCTG	0.582			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													120	95	104					22																	23610658		2203	4300	6503	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1816G>C	22.37:g.23610658G>C	ENSP00000303507:p.Glu606Gln		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.E606Q	ENST00000305877.8	37	c.1816	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.405716	0.96051	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.64260	-0.09;-0.09	5.49	5.49	0.81192	Dbl homology (DH) domain (5);	0.095616	0.64402	D	0.000001	T	0.65974	0.2743	L	0.53671	1.685	0.80722	D	1	B;P;B	0.39903	0.149;0.694;0.368	B;P;B	0.44518	0.206;0.452;0.217	T	0.65220	-0.6221	10	0.44086	T	0.13	.	18.7448	0.91788	0.0:0.0:1.0:0.0	.	195;606;606	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	Q	606;606;271	ENSP00000303507:E606Q;ENSP00000352535:E606Q	ENSP00000303507:E606Q	E	+	1	0	BCR	21940658	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	9.565000	0.98154	2.761000	0.94854	0.655000	0.94253	GAG	BCR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.582	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	G	NM_004327		23610658	1	no_errors	ENST00000305877	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23610658	G	C	23610658	3	2	13	1	0	0	0	0	1	0	0	0	1389	1291	45	1	1834	1	BCR	22	23610658	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1322841	23610658	27693908	827	2271										
DERL3	91319	genome.wustl.edu	37	chr22	24180753	24180753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgcagggcgcaggatacacGaagagcatgttgaagaagaa	14	8	0	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:24180753G>T	ENST00000318109.7	-	3	247	c.231C>A	c.(229-231)ttC>ttA	p.F77L	DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Missense_Mutation_p.F77L|DERL3_ENST00000476077.1_Missense_Mutation_p.F77L|DERL3_ENST00000404056.1_Missense_Mutation_p.R82S			Q96Q80	DERL3_HUMAN	derlin 3	77					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CAGGATACACGAAGAGCATGT	0.682																																																	0													23	26	25					22																	24180753		2194	4291	6485	SO:0001583	missense	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.231C>A	22.37:g.24180753G>T	ENSP00000315303:p.Phe77Leu		F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	pfam_DER1	p.F77L	ENST00000318109.7	37	c.231	CCDS33615.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.119167|4.119167	0.77323|0.77323	.|.	.|.	ENSG00000099958|ENSG00000099958	ENST00000406855;ENST00000318109;ENST00000476077|ENST00000404056	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	5.23|5.23	3.13|3.13	0.36017|0.36017	.|.	0.060539|.	0.64402|.	D|.	0.000003|.	T|T	0.64527|0.64527	0.2606|0.2606	M|M	0.81239|0.81239	2.535|2.535	0.58432|0.58432	D|D	0.999996|0.999996	P;D;P|.	0.76494|.	0.919;0.999;0.934|.	P;D;P|.	0.72075|.	0.667;0.976;0.776|.	T|T	0.64774|0.64774	-0.6328|-0.6328	10|6	0.72032|0.46703	D|T	0.01|0.11	-39.5654|-39.5654	3.8391|3.8391	0.08906|0.08906	0.2443:0.0:0.5793:0.1764|0.2443:0.0:0.5793:0.1764	.|.	77;3;77|.	Q96Q80-2;Q96Q80-4;Q96Q80|.	.;.;DERL3_HUMAN|.	L|S	77|82	ENSP00000384744:F77L;ENSP00000315303:F77L;ENSP00000419399:F77L|.	ENSP00000315303:F77L|ENSP00000384473:R82S	F|R	-|-	3|1	2|0	DERL3|DERL3	22510753|22510753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.845000|1.845000	0.39279|0.39279	1.375000|1.375000	0.46248|0.46248	0.555000|0.555000	0.69702|0.69702	TTC|CGT	DERL3	-	pfam_DER1		0.682	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24180753	-1	no_errors	ENST00000318109	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24180753	G	T	24180753	3	4	13	1	0	0	0	0	1	0	0	0	4458	1049	37	3	610	3	DERL3	22	24180753	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	570095	24180753	27123813	828	2272										
SUSD2	56241	genome.wustl.edu	37	chr22	24582379	24582379	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagcagagctggatggacctGaaaggtgagcagtccagcca	15	9	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:24582379G>C	ENST00000358321.3	+	10	1899	c.1638G>C	c.(1636-1638)ctG>ctC	p.L546L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	546	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGATGGACCTGAAAGGTGAGC	0.637																																																	0													79	61	67					22																	24582379		2203	4300	6503	SO:0001819	synonymous_variant	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1638G>C	22.37:g.24582379G>C			Q9H5Y6	Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.L546	ENST00000358321.3	37	c.1638	CCDS13824.1	22																																																																																			SUSD2	-	pfam_VWF_type-D,smart_VWF_type-D		0.637	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	G	NM_019601		24582379	1	no_errors	ENST00000358321	ensembl	human	known	70_37	silent	SNP	0.993	C	C	24582379	G	C	24582379	2	2	13	1	0	0	0	0	0	0	0	1	15438	1277	45	1		1	SUSD2	22	24582379	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	401626	24582379	26722187	829	2273										
LRP5L	91355	genome.wustl.edu	37	chr22	25750774	25750774	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttcgtctcatcgacactGatcgcctgcagaatggcaaa	8	13	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:25750774G>A	ENST00000402785.2	-	3	540	c.444C>T	c.(442-444)atC>atT	p.I148I	LRP5L_ENST00000402859.2_Silent_p.I148I|LRP5L_ENST00000444995.3_Silent_p.I148I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	148					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CATCGACACTGATCGCCTGCA	0.597																																																	0													100	89	93					22																	25750774		2200	4300	6500	SO:0001819	synonymous_variant	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.444C>T	22.37:g.25750774G>A			B0QYF3|B0QYF4|B2RPI5	Silent	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.I148	ENST00000402785.2	37	c.444	CCDS33626.1	22																																																																																			LRP5L	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt		0.597	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	G	NM_182492		25750774	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	silent	SNP	0.944	A	A	25750774	G	A	25750774	2	1	13	1	0	0	0	0	0	0	0	1	8984	1280	45	1		1	LRP5L	22	25750774	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1168395	25750774	25553792	830	2274										
GATSL3	652968	genome.wustl.edu	37	chr22	30683473	30683473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	accccagcagcctgcactgcCgcaccgctgtgagacgacac	10	18	0	1	rs368151687		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:30683473C>T	ENST00000407689.3	-	3	390	c.261G>A	c.(259-261)gcG>gcA	p.A87A	GATSL3_ENST00000404953.3_Silent_p.A87A|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_5'Flank	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	87										breast(1)|endometrium(1)|lung(1)	3						CCTGCACTGCCGCACCGCTGT	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4380		0,0,2190	31	36	34		261	-9.7	0	22		34	2,8582		0,2,4290	no	coding-synonymous	GATSL3	NM_001037666.2		0,2,6480	TT,TC,CC		0.0233,0.0,0.0154		87/330	30683473	2,12962	2190	4292	6482	SO:0001819	synonymous_variant	652968				CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.261G>A	22.37:g.30683473C>T		819	O76052|Q96ND9|Q9UIE8	Silent	SNP	NULL	p.A87	ENST00000407689.3	37	c.261	CCDS43001.1	22																																																																																			GATSL3	-	NULL		0.627	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	HGNC	protein_coding	OTTHUMT00000320581.2	C	NM_001037666		30683473	-1	no_errors	ENST00000407689	ensembl	human	known	70_37	silent	SNP	0.000	T	T	30683473	C	T	30683473	2	4	13	1	0	0	0	0	0	0	0	1	6284	639	23	2		2	GATSL3	22	30683473	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4932699	30683473	20621093	831	2275										
MTP18	51537	genome.wustl.edu	37	chr22	30822800	30822800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccagctcctacgtgctggcgGatgccattgacaaaggcaag	12	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:30822800G>A	ENST00000266263.5	+	2	513	c.163G>A	c.(163-165)Gat>Aat	p.D55N	MTFP1_ENST00000355143.4_Missense_Mutation_p.D55N|MTFP1_ENST00000407550.3_Missense_Mutation_p.D55N|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.D227N	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	55					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						CGTGCTGGCGGATGCCATTGA	0.582											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	85	84					22																	30822800		2203	4300	6503	SO:0001583	missense	51537			AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.163G>A	22.37:g.30822800G>A	ENSP00000266263:p.Asp55Asn	820	A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	pfam_Mitochondrial_18_kDa_protein_	p.D55N	ENST00000266263.5	37	c.163	CCDS33635.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.924744	0.97110	.	.	ENSG00000249590;ENSG00000242114;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000355143;ENST00000407550	D	0.83837	-1.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94266	0.7506	10	0.72032	D	0.01	-13.6586	18.0235	0.89262	0.0:0.0:1.0:0.0	.	55;55	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	N	227;55;55;55	ENSP00000415178:D227N	ENSP00000266263:D55N	D	+	1	0	MTFP1;RP4-539M6.19	29152800	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	9.026000	0.93700	2.557000	0.86248	0.655000	0.94253	GAT	MTFP1	-	pfam_Mitochondrial_18_kDa_protein_		0.582	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFP1	HGNC	protein_coding	OTTHUMT00000321126.3	G	NM_016498		30822800	1	no_errors	ENST00000266263	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30822800	G	A	30822800	3	1	13	1	0	0	0	0	1	0	0	0	9978	1174	41	1	169	1	MTP18	22	30822800	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	139327	30822800	20481766	832	2276										
TCN2	6948	genome.wustl.edu	37	chr22	31008988	31008988	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	caagggggacaggctggtctCacagctcaaatggttcctgg	14	10	2	0	rs200868221		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:31008988C>G	ENST00000215838.3	+	3	880	c.386C>G	c.(385-387)tCa>tGa	p.S129*	TCN2_ENST00000407817.3_Intron|TCN2_ENST00000405742.3_Nonsense_Mutation_p.S125*			P20062	TCO2_HUMAN	transcobalamin II	129					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTGGTCTCACAGCTCAAA	0.597																																																	0													54	50	52					22																	31008988		2203	4300	6503	SO:0001587	stop_gained	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.386C>G	22.37:g.31008988C>G	ENSP00000215838:p.Ser129*		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Nonsense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.S129*	ENST00000215838.3	37	c.386	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.585751	0.97684	.	.	ENSG00000185339	ENST00000215838;ENST00000405742	.	.	.	5.41	5.41	0.78517	.	0.215079	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.6432	16.1181	0.81324	0.0:1.0:0.0:0.0	.	.	.	.	X	129;125	.	ENSP00000215838:S129X	S	+	2	0	TCN2	29338988	0.980000	0.34600	0.993000	0.49108	0.954000	0.61252	4.207000	0.58480	2.541000	0.85698	0.655000	0.94253	TCA	TCN2	-	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	C	NM_000355		31008988	1	no_errors	ENST00000215838	ensembl	human	known	70_37	nonsense	SNP	0.996	G	G	31008988	C	G	31008988	4	3	13	1	0	0	0	0	0	1	0	0	15737	838	29	1	396	1	TCN2	22	31008988	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	186188	31008988	20295578	833	2277										
SYN3	8224	genome.wustl.edu	37	chr22	32914306	32914306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctggggctgaggagactgaGcttggcgagggcctcctaag	17	9	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:32914306G>A	ENST00000358763.2	-	13	1576	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	SYN3_ENST00000332840.5_Missense_Mutation_p.A445V|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	445	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGGAGACTGAGCTTGGCGAGG	0.527																																																	0													43	52	49					22																	32914306		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1334C>T	22.37:g.32914306G>A	ENSP00000351614:p.Ala445Val		B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.A445V	ENST00000358763.2	37	c.1334	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261832	0.39995	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.31769	1.48;1.48	5.66	3.53	0.40419	.	0.705449	0.13275	N	0.400199	T	0.26738	0.0654	L	0.47716	1.5	0.42957	D	0.994399	B;B	0.18741	0.03;0.03	B;B	0.15870	0.014;0.014	T	0.05131	-1.0904	10	0.33141	T	0.24	-3.0247	10.0947	0.42469	0.0708:0.0:0.7908:0.1384	.	444;445	Q17R54;O14994	.;SYN3_HUMAN	V	445;445;79	ENSP00000351614:A445V;ENSP00000330219:A445V	ENSP00000330219:A445V	A	-	2	0	SYN3	31244306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.365000	0.59486	1.352000	0.45808	0.655000	0.94253	GCT	SYN3	-	NULL		0.527	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	G			32914306	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32914306	G	A	32914306	3	1	13	1	0	0	0	0	1	0	0	0	15472	971	34	4	416	4	SYN3	22	32914306	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1905318	32914306	18390260	834	2278										
HMOX1	3162	genome.wustl.edu	37	chr22	35789553	35789553	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gggtccttacactcagctttCtggtggcgacagttgctgta	12	10	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:35789553C>G	ENST00000216117.8	+	5	1168	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	277					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	ACTCAGCTTTCTGGTGGCGAC	0.577																																																	0													144	139	141					22																	35789553		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.829C>G	22.37:g.35789553C>G	ENSP00000216117:p.Leu277Val			Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.L277V	ENST00000216117.8	37	c.829	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	C	2.967	-0.213220	0.06140	.	.	ENSG00000100292	ENST00000216117	T	0.17854	2.25	5.57	-1.03	0.10102	.	0.500288	0.21424	N	0.074778	T	0.10680	0.0261	L	0.60455	1.87	0.19300	N	0.999975	B	0.11235	0.004	B	0.09377	0.004	T	0.41088	-0.9528	10	0.05833	T	0.94	-10.35	3.8077	0.08783	0.1508:0.5185:0.1826:0.148	.	277	P09601	HMOX1_HUMAN	V	277	ENSP00000216117:L277V	ENSP00000216117:L277V	L	+	1	2	HMOX1	34119553	0.039000	0.19947	0.819000	0.32651	0.251000	0.25915	-0.434000	0.06939	0.037000	0.15575	0.591000	0.81541	CTG	HMOX1	-	NULL		0.577	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	HGNC	protein_coding	OTTHUMT00000320657.1	C			35789553	1	no_errors	ENST00000216117	ensembl	human	known	70_37	missense	SNP	0.186	G	G	35789553	C	G	35789553	3	3	13	1	0	0	0	0	1	0	0	0	7263	912	32	1	847	1	HMOX1	22	35789553	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2875247	35789553	15515013	835	2279										
TST	7263	genome.wustl.edu	37	chr22	37407280	37407280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggaacagagcacggagctCttctgggcccttctcgaagc	12	13	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:37407280C>T	ENST00000403892.3	-	2	1416	c.682G>A	c.(682-684)Gag>Aag	p.E228K	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.E228K	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	228	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.		E -> G (in dbSNP:rs1049270).		cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACGGAGCTCTTCTGGGCCC	0.612																																																	0													51	40	44					22																	37407280		2203	4300	6503	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.682G>A	22.37:g.37407280C>T	ENSP00000385828:p.Glu228Lys		B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E228K	ENST00000403892.3	37	c.682	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259737	0.59321	.	.	ENSG00000128311	ENST00000403892;ENST00000249042	T;T	0.48836	0.8;0.8	5.08	4.0	0.46444	Rhodanese-like (5);	0.353979	0.30940	N	0.008566	T	0.47985	0.1475	M	0.70842	2.15	0.58432	D	0.999996	B	0.09022	0.002	B	0.20384	0.029	T	0.48186	-0.9057	10	0.46703	T	0.11	-23.9309	12.4419	0.55629	0.0:0.9126:0.0:0.0874	.	228	Q16762	THTR_HUMAN	K	228	ENSP00000385828:E228K;ENSP00000249042:E228K	ENSP00000249042:E228K	E	-	1	0	TST	35737226	0.990000	0.36364	1.000000	0.80357	0.664000	0.39144	1.395000	0.34520	1.233000	0.43693	0.655000	0.94253	GAG	TST	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.612	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1	C			37407280	-1	no_errors	ENST00000249042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37407280	C	T	37407280	3	4	13	1	0	0	0	0	1	0	0	0	16704	922	32	1	215	1	TST	22	37407280	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1617727	37407280	13897286	836	2280										
SUN2	25777	genome.wustl.edu	37	chr22	39132286	39132286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcagggctagtgggcgggctCcccatgcactctgaagcggt	16	12	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:39132286C>T	ENST00000405510.1	-	19	2498	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.E714K|SUN2_ENST00000405018.1_Missense_Mutation_p.E735K|SUN2_ENST00000406622.1_Missense_Mutation_p.E714K|SUN2_ENST00000411587.2_Missense_Mutation_p.E703K|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	714	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGGGCGGGCTCCCCATGCACT	0.657																																																	0													92	80	84					22																	39132286		2203	4300	6503	SO:0001583	missense	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.2140G>A	22.37:g.39132286C>T	ENSP00000385740:p.Glu714Lys		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E714K	ENST00000405510.1	37	c.2140	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534179	0.64972	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.34	5.34	0.76211	Sad1/UNC-like, C-terminal (2);	0.292022	0.33732	N	0.004602	T	0.40546	0.1121	N	0.20845	0.615	0.50313	D	0.999862	P;P;B;P	0.52577	0.954;0.919;0.036;0.864	P;P;B;B	0.50378	0.639;0.467;0.102;0.382	T	0.15093	-1.0449	10	0.30854	T	0.27	-17.3119	18.6524	0.91435	0.0:1.0:0.0:0.0	.	703;749;735;714	B4DIU6;B4E2A6;B0QY62;Q9UH99	.;.;.;SUN2_HUMAN	K	714;714;735;714;703	ENSP00000385740:E714K;ENSP00000216064:E714K;ENSP00000385616:E735K;ENSP00000383992:E714K;ENSP00000395601:E703K	ENSP00000216064:E714K	E	-	1	0	SUN2	37462232	0.997000	0.39634	1.000000	0.80357	0.665000	0.39181	1.385000	0.34408	2.498000	0.84270	0.561000	0.74099	GAG	SUN2	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.657	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	C	XM_039332		39132286	-1	no_errors	ENST00000216064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39132286	C	T	39132286	3	4	13	1	0	0	0	0	1	0	0	0	15422	864	30	1	17	1	SUN2	22	39132286	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1725006	39132286	12172280	837	2281										
ATF4	468	genome.wustl.edu	37	chr22	39917549	39917549	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gctgaagaaagcctaggtctCttagatgattacctggaggt	12	7	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:39917549C>G	ENST00000337304.2	+	1	981	c.99C>G	c.(97-99)ctC>ctG	p.L33L	ATF4_ENST00000396680.1_Silent_p.L33L|ATF4_ENST00000404241.2_Silent_p.L33L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	33					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GCCTAGGTCTCTTAGATGATT	0.567																																																	0													64	63	63					22																	39917549		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.99C>G	22.37:g.39917549C>G			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L33	ENST00000337304.2	37	c.99	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.567	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917549	1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	G	G	39917549	C	G	39917549	2	3	13	1	0	0	0	0	0	0	0	1	1083	900	32	1		1	ATF4	22	39917549	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	785263	39917549	11387017	838	2282										
MEI1	150365	genome.wustl.edu	37	chr22	42099426	42099426	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actggtgtctcaggatcagaGagtctgcatccacttcataa	9	10	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:42099426G>C	ENST00000401548.3	+	2	306	c.266G>C	c.(265-267)aGa>aCa	p.R89T	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGATCAGAGAGTCTGCATC	0.443																																																	0													77	72	73					22																	42099426		1942	4135	6077	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.266G>C	22.37:g.42099426G>C	ENSP00000384115:p.Arg89Thr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R89T	ENST00000401548.3	37	c.266	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054167	0.55218	.	.	ENSG00000167077	ENST00000401548	T	0.18657	2.2	5.22	0.477	0.16784	Armadillo-type fold (1);	0.128078	0.48767	D	0.000164	T	0.31482	0.0798	L	0.59436	1.845	0.80722	D	1	D;B	0.71674	0.998;0.017	D;B	0.66351	0.943;0.013	T	0.08868	-1.0701	10	0.72032	D	0.01	-4.3527	4.0247	0.09682	0.154:0.1257:0.5915:0.1288	.	89;89	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	T	89	ENSP00000384115:R89T	ENSP00000384115:R89T	R	+	2	0	MEI1	40429372	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	0.555000	0.23422	0.601000	0.29879	0.485000	0.47835	AGA	MEI1	-	superfamily_ARM-type_fold		0.443	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	G	NM_152513		42099426	1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	0.999	C	C	42099426	G	C	42099426	3	2	13	1	0	0	0	0	1	0	0	0	9488	942	33	1	272	1	MEI1	22	42099426	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	2181877	42099426	9205140	839	2283										
MPPED1	758	genome.wustl.edu	37	chr22	43821022	43821022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctaggtgggatgccagcgtcCtgaaggcggaggccctggcc	17	12	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:43821022C>T	ENST00000417669.2	+	2	475	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Silent_p.L44L|MPPED1_ENST00000443721.1_Silent_p.L11L|MPPED1_ENST00000542779.1_Silent_p.L11L|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	11							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TGCCAGCGTCCTGAAGGCGGA	0.741																																																	0													15	20	18					22																	43821022		2083	4204	6287	SO:0001819	synonymous_variant	758			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.31C>T	22.37:g.43821022C>T			A8K159|B7Z2S9|Q8N361	Silent	SNP	pfam_Metallo_PEstase_dom	p.L44	ENST00000417669.2	37	c.130	CCDS46723.1	22																																																																																			MPPED1	-	NULL		0.741	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	HGNC	protein_coding	OTTHUMT00000318938.2	C	NM_001044370		43821022	1	no_errors	ENST00000538182	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43821022	C	T	43821022	2	4	13	1	0	0	0	0	0	0	0	1	9764	680	24	4		4	MPPED1	22	43821022	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1721596	43821022	7483544	840	2284										
EFCAB6	64800	genome.wustl.edu	37	chr22	43950824	43950824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctggagatggtgttcgttttCatggtgtcaaaattctcaaa	10	6	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:43950824C>T	ENST00000262726.7	-	27	3826	c.3573G>A	c.(3571-3573)atG>atA	p.M1191I	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1039I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1191	EF-hand 13. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTTCGTTTTCATGGTGTCAA	0.522																																																	0													152	143	146					22																	43950824		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3573G>A	22.37:g.43950824C>T	ENSP00000262726:p.Met1191Ile		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1191I	ENST00000262726.7	37	c.3573	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	2.802	-0.248888	0.05867	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07567	3.18;3.18	4.88	-3.49	0.04724	EF-hand-like domain (1);	1.108970	0.06696	N	0.770558	T	0.06826	0.0174	L	0.51422	1.61	0.09310	N	1	B;B	0.22480	0.07;0.007	B;B	0.21151	0.033;0.022	T	0.44922	-0.9296	10	0.30854	T	0.27	-1.6096	2.0823	0.03638	0.1416:0.2115:0.4186:0.2283	.	1039;1191	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	I	1039;1191	ENSP00000379533:M1039I;ENSP00000262726:M1191I	ENSP00000262726:M1191I	M	-	3	0	EFCAB6	42282157	0.001000	0.12720	0.040000	0.18447	0.049000	0.14656	-0.226000	0.09139	-0.082000	0.12640	-0.345000	0.07892	ATG	EFCAB6	-	smart_EF_hand_Ca-bd		0.522	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		43950824	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43950824	C	T	43950824	3	4	13	1	0	0	0	0	1	0	0	0	4949	826	29	1	956	1	EFCAB6	22	43950824	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	129802	43950824	7353742	841	2285										
SAMM50	25813	genome.wustl.edu	37	chr22	44368762	44368762	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccctcctaggtacttggcctCaagcttcctaatcttcttgg	7	14	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:44368762C>T	ENST00000350028.4	+	6	598	c.441C>T	c.(439-441)ctC>ctT	p.L147L	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	147					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TACTTGGCCTCAAGCTTCCTA	0.423																																																	0													123	132	129					22																	44368762		2203	4300	6503	SO:0001819	synonymous_variant	25813			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.441C>T	22.37:g.44368762C>T			Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	pfam_Bac_surfAg_D15	p.L147	ENST00000350028.4	37	c.441	CCDS14055.1	22																																																																																			SAMM50	-	NULL		0.423	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	C	NM_015380		44368762	1	no_errors	ENST00000350028	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44368762	C	T	44368762	2	4	13	1	0	0	0	0	0	0	0	1	13859	813	29	1		1	SAMM50	22	44368762	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	417938	44368762	6935804	842	2286										
KIAA1644	85352	genome.wustl.edu	37	chr22	44681447	44681447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctgacccggccgaggggcccGagcggggttcccccaccgcc	15	19	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:44681447G>A	ENST00000381176.4	-	4	592	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	154						integral component of membrane (GO:0016021)		p.R154W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGAGGGGCCCGAGCGGGGTTC	0.687																																																	1	Substitution - Missense(1)	large_intestine(1)											43	47	46					22																	44681447		1887	4120	6007	SO:0001583	missense	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.460C>T	22.37:g.44681447G>A	ENSP00000370568:p.Arg154Trp		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R154W	ENST00000381176.4	37	c.460	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953160	0.34471	.	.	ENSG00000138944	ENST00000381176	.	.	.	4.28	3.24	0.37175	.	0.651810	0.13564	N	0.378521	T	0.29817	0.0745	N	0.08118	0	0.33797	D	0.626183	D	0.64830	0.994	P	0.47744	0.556	T	0.43893	-0.9363	8	0.87932	D	0	-14.4147	10.899	0.47040	0.0:0.0:0.7996:0.2004	.	154	Q3SXP7	K1644_HUMAN	W	154	.	ENSP00000370568:R154W	R	-	1	2	KIAA1644	43012780	1.000000	0.71417	0.947000	0.38551	0.264000	0.26372	2.294000	0.43567	0.889000	0.36185	0.561000	0.74099	CGG	KIAA1644	-	NULL		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	G	NM_001099294		44681447	-1	no_errors	ENST00000381176	ensembl	human	putative	70_37	missense	SNP	0.998	A	A	44681447	G	A	44681447	3	1	13	1	0	0	0	0	1	0	0	0	8270	1057	37	1	147	1	KIAA1644	22	44681447	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	312685	44681447	6623119	843	2287										
PPARA	5465	genome.wustl.edu	37	chr22	46631032	46631032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctcttctttcgagactagatCgtcctggccttctaaacgta	7	12	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:46631032C>T	ENST00000396000.2	+	8	1427	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	PPARA_ENST00000402126.1_Missense_Mutation_p.R388C|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Missense_Mutation_p.R388C|PPARA_ENST00000262735.5_Missense_Mutation_p.R388C			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	388	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GAGACTAGATCGTCCTGGCCT	0.448																																																	0													92	82	85					22																	46631032		2203	4300	6503	SO:0001583	missense	5465			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.1162C>T	22.37:g.46631032C>T	ENSP00000379322:p.Arg388Cys		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R388C	ENST00000396000.2	37	c.1162	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487247	0.84854	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.02	5.02	0.67125	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055100	0.85682	D	0.000000	D	0.86859	0.6034	M	0.90082	3.085	0.80722	D	1	D	0.54397	0.966	P	0.57283	0.817	D	0.89586	0.3824	10	0.72032	D	0.01	.	17.504	0.87739	0.0:1.0:0.0:0.0	.	388	Q07869	PPARA_HUMAN	C	388	ENSP00000379322:R388C;ENSP00000262735:R388C;ENSP00000385523:R388C;ENSP00000385246:R388C	ENSP00000262735:R388C	R	+	1	0	PPARA	45009696	1.000000	0.71417	0.930000	0.37139	0.436000	0.31835	7.475000	0.81041	2.623000	0.88846	0.563000	0.77884	CGT	PPARA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.448	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	C	NM_001001928		46631032	1	no_errors	ENST00000262735	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46631032	C	T	46631032	3	4	13	1	0	0	0	0	1	0	0	0	12321	884	31	1	1184	1	PPARA	22	46631032	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1949585	46631032	4673534	844	2288										
TTLL8	164714	genome.wustl.edu	37	chr22	50468941	50468941	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tccagcgggtgcgcatttagCtggtttggatcccagctttt	12	10	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:50468941C>G	ENST00000266182.6	-	12	2120	c.2121G>C	c.(2119-2121)caG>caC	p.Q707H	TTLL8_ENST00000440475.1_Missense_Mutation_p.Q687H			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	723					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCGCATTTAGCTGGTTTGGAT	0.692																																																	0													28	32	30					22																	50468941		1964	4143	6107	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.2121G>C	22.37:g.50468941C>G	ENSP00000266182:p.Gln707His		B5MDV0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q707H	ENST00000266182.6	37	c.2121		22	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169866	0.38315	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04406	3.63;3.73;3.73	4.11	-4.28	0.03732	.	11.864300	0.00166	N	0.000000	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	P	0.39060	0.657	B	0.31614	0.133	T	0.32587	-0.9901	10	0.42905	T	0.14	.	6.244	0.20807	0.1539:0.5283:0.0:0.3178	.	707	B5MDV0	.	H	707;687;723	ENSP00000266182:Q707H;ENSP00000387509:Q687H;ENSP00000392252:Q723H	ENSP00000266182:Q707H	Q	-	3	2	TTLL8	48811068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.311000	0.01128	-1.326000	0.02266	-1.115000	0.02055	CAG	TTLL8	-	NULL		0.692	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	HGNC	protein_coding		C	NM_001080447		50468941	-1	no_errors	ENST00000266182	ensembl	human	known	70_37	missense	SNP	0.000	G	G	50468941	C	G	50468941	3	3	13	1	0	0	0	0	1	0	0	0	16764	796	28	4	394	4	TTLL8	22	50468941	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	3837909	50468941	835625	845	2289										
SCO2	9997	genome.wustl.edu	37	chr22	50962744	50962744	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgacaaaagccaggacctcaGatgcagggcctggcctccca	11	14	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:50962744G>C	ENST00000543927.1	-	2	303	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	SCO2_ENST00000395693.3_Missense_Mutation_p.L33V|SCO2_ENST00000252785.3_Missense_Mutation_p.L33V|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Missense_Mutation_p.L33V	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	33					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGACCTCAGATGCAGGGCC	0.667																																																	0													20	23	22					22																	50962744		2191	4272	6463	SO:0001583	missense	9997			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.97C>G	22.37:g.50962744G>C	ENSP00000444433:p.Leu33Val		Q3T1B5|Q9UK87	Missense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.L33V	ENST00000543927.1	37	c.97	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425597	0.01126	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785;ENST00000439934;ENST00000423348	D;D;D;D;T;T	0.83591	-1.74;-1.74;-1.74;-1.74;-0.58;-0.58	3.28	-6.57	0.01842	.	1.174460	0.06747	N	0.779294	T	0.54159	0.1841	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	10	0.29301	T	0.29	-0.8505	0.7238	0.00945	0.157:0.2133:0.2697:0.3601	.	33	O43819	SCO2_HUMAN	V	33	ENSP00000379046:L33V;ENSP00000444433:L33V;ENSP00000444242:L33V;ENSP00000252785:L33V;ENSP00000415642:L33V;ENSP00000403570:L33V	ENSP00000252785:L33V	L	-	1	2	SCO2	49309610	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.631000	0.00871	-1.291000	0.02368	-0.440000	0.05779	CTG	SCO2	-	pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.667	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	HGNC	protein_coding	OTTHUMT00000317091.1	G	NM_005138		50962744	-1	no_errors	ENST00000252785	ensembl	human	known	70_37	missense	SNP	0.000	C	C	50962744	G	C	50962744	3	2	13	1	0	0	0	0	1	0	0	0	13962	933	33	1	707	1	SCO2	22	50962744	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	493803	50962744	341822	846	2290										
CHKB	1120	genome.wustl.edu	37	chr22	51020713	51020713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtacagccgcagaagcacctCccggggctcctcgccaacgc	11	18	0	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:51020713C>T	ENST00000406938.2	-	2	515	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'UTR|CHKB-CPT1B_ENST00000452668.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	100					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AGAAGCACCTCCCGGGGCTCC	0.682																																																	0													16	16	16					22																	51020713		2186	4288	6474	SO:0001583	missense	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.298G>A	22.37:g.51020713C>T	ENSP00000384400:p.Glu100Lys		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E100K	ENST00000406938.2	37	c.298	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	C	8.603	0.887372	0.17540	.	.	ENSG00000100288	ENST00000406938	T	0.51817	0.69	5.12	1.53	0.23141	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.256416	0.35805	N	0.002975	T	0.13543	0.0328	N	0.00793	-1.18	0.39734	D	0.971643	B	0.17667	0.023	B	0.18561	0.022	T	0.34502	-0.9826	10	0.02654	T	1	0.2971	8.9919	0.36028	0.1549:0.4018:0.4433:0.0	.	100	Q9Y259	CHKB_HUMAN	K	100	ENSP00000384400:E100K	ENSP00000384400:E100K	E	-	1	0	CHKB	49367579	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	2.028000	0.41088	0.503000	0.28060	-0.321000	0.08615	GAG	CHKB	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.682	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	C	NM_005198		51020713	-1	no_errors	ENST00000406938	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51020713	C	T	51020713	3	4	13	1	0	0	0	0	1	0	0	0	3353	864	30	1	929	1	CHKB	22	51020713	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	57969	51020713	283853	847	2291										
ARSA	410	genome.wustl.edu	37	chr22	51066038	51066038	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agtctgtgaaccgcagccctCccgccgccagctggtccagg	12	17	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:51066038C>G	ENST00000547307.1	-	1	569	c.164G>C	c.(163-165)gGa>gCa	p.G55A	ARSA_ENST00000453344.2_Intron|ARSA_ENST00000395619.3_Missense_Mutation_p.G57A|ARSA_ENST00000216124.5_Missense_Mutation_p.G57A|ARSA_ENST00000547805.1_Missense_Mutation_p.G55A|ARSA_ENST00000356098.5_Missense_Mutation_p.G57A|ARSA_ENST00000395621.3_Missense_Mutation_p.G57A			P15289	ARSA_HUMAN	arylsulfatase A	55					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCGCAGCCCTCCCGCCGCCAG	0.642																																																	0													15	16	15					22																	51066038		2187	4268	6455	SO:0001583	missense	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.164G>C	22.37:g.51066038C>G	ENSP00000448440:p.Gly55Ala		B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G57A	ENST00000547307.1	37	c.170		22	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622950	0.14193	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000395619	D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.3	2.03	0.26663	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.525167	0.22008	N	0.065911	D	0.87581	0.6213	N	0.16233	0.39	0.09310	N	1	B;B	0.18741	0.03;0.003	B;B	0.10450	0.005;0.003	T	0.77797	-0.2453	10	0.40728	T	0.16	.	4.5814	0.12260	0.0:0.5897:0.1837:0.2266	.	55;55	B4DVI5;P15289	.;ARSA_HUMAN	A	57;57;55;55;57;57	ENSP00000348406:G57A;ENSP00000216124:G57A;ENSP00000448440:G55A;ENSP00000448932:G55A;ENSP00000378983:G57A;ENSP00000378981:G57A	ENSP00000216124:G57A	G	-	2	0	ARSA	49412904	0.000000	0.05858	0.122000	0.21767	0.365000	0.29674	-0.038000	0.12144	1.216000	0.43427	0.511000	0.50034	GGA	ARSA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.642	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		C	NM_000487		51066038	-1	no_errors	ENST00000216124	ensembl	human	known	70_37	missense	SNP	0.001	G	G	51066038	C	G	51066038	3	3	13	1	0	0	0	0	1	0	0	0	988	855	30	1	1391	1	ARSA	22	51066038	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	45325	51066038	238528	848	2292										
MXRA5	25878	genome.wustl.edu	37	chrX	3241076	3241076	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtcatcaacaacttcctccaGaggtgtgcttgttacttcag	8	11	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:3241076G>C	ENST00000217939.6	-	5	2804	c.2650C>G	c.(2650-2652)Ctg>Gtg	p.L884V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	884						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTTCCTCCAGAGGTGTGCTT	0.483																																																	0													99	86	90					X																	3241076		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2650C>G	X.37:g.3241076G>C	ENSP00000217939:p.Leu884Val		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L884V	ENST00000217939.6	37	c.2650	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	3.141	-0.176268	0.06380	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64618	-0.11	3.63	-1.26	0.09376	.	1.472120	0.05085	N	0.484326	T	0.31888	0.0811	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13308	-1.0514	10	0.07482	T	0.82	.	0.4568	0.00510	0.2454:0.2548:0.2698:0.2301	.	884	Q9NR99	MXRA5_HUMAN	V	884	ENSP00000217939:L884V	ENSP00000217939:L884V	L	-	1	2	MXRA5	3251076	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.795000	0.04580	-0.285000	0.09089	-1.161000	0.01788	CTG	MXRA5	-	NULL		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3241076	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.000	C	C	3241076	G	C	3241076	3	2	13	1	0	0	0	0	1	0	0	0	10026	933	33	1	5848	1	MXRA5	23	3241076	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09		3241076	152029484	849	2293										
VCX3B	425054	genome.wustl.edu	37	chrX	8434329	8434329	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agatggaagaaccactgagtCaggagagccaggtggaggaa	16	6	1	4			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:8434329C>T	ENST00000381032.1	+	3	953	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	VCX3B_ENST00000381029.4_Nonsense_Mutation_p.Q184*|VCX3B_ENST00000440654.2_Nonsense_Mutation_p.Q166*|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Nonsense_Mutation_p.Q186*	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	216	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						ACCACTGAGTCAGGAGAGCCA	0.562																																																	0													80	140	120					X																	8434329		2181	4243	6424	SO:0001587	stop_gained	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.646C>T	X.37:g.8434329C>T	ENSP00000370420:p.Gln216*		C9JS46|Q4KN12	Nonsense_Mutation	SNP	NULL	p.Q186*	ENST00000381032.1	37	c.556	CCDS48077.2	X	.	.	.	.	.	.	.	.	.	.	N	13.50	2.254591	0.39896	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000440654;ENST00000381029	.	.	.	0.705	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.23406	N	0.997742	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	6.698	0.23209	0.0:0.3599:0.64:0.0	.	.	.	.	X	216;186;166;184	.	ENSP00000370417:Q184X	Q	+	1	0	VCX3B	8394329	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.114000	0.01329	-0.177000	0.10690	-0.635000	0.03985	CAG	VCX3B	-	NULL		0.562	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	C			8434329	1	no_errors	ENST00000444481	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	8434329	C	T	8434329	4	4	13	1	0	0	0	0	0	1	0	0	17176	827	29	1	566	1	VCX3B	23	8434329	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5193253	8434329	146836231	850	2294										
SHROOM2	357	genome.wustl.edu	37	chrX	9864180	9864180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tctacaagtggcgggccccaCccgccccgcatcggaggccg	13	18	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:9864180C>T	ENST00000380913.3	+	4	2322	c.2232C>T	c.(2230-2232)caC>caT	p.H744H		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	744	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCGGGCCCCACCCGCCCCGCA	0.637																																																	0													10	11	11					X																	9864180		2172	4229	6401	SO:0001819	synonymous_variant	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2232C>T	X.37:g.9864180C>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H744	ENST00000380913.3	37	c.2232	CCDS14135.1	X																																																																																			SHROOM2	-	pfam_ASD1		0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	C	NM_001649		9864180	1	no_errors	ENST00000380913	ensembl	human	known	70_37	silent	SNP	0.002	T	T	9864180	C	T	9864180	2	4	13	1	0	0	0	0	0	0	0	1	14324	506	18	4		4	SHROOM2	23	9864180	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1429851	9864180	145406380	851	2295										
ARHGAP6	395	genome.wustl.edu	37	chrX	11206923	11206923	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggtgtttctgaggttgagctGagagatgagttactgcttga	15	4	1	6			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:11206923G>C	ENST00000337414.4	-	4	1874	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	ARHGAP6_ENST00000534860.1_Silent_p.L159L|ARHGAP6_ENST00000380732.3_Silent_p.L366L|ARHGAP6_ENST00000380718.1_Silent_p.L334L|ARHGAP6_ENST00000413512.3_Silent_p.L143L|ARHGAP6_ENST00000303025.6_Silent_p.L131L|ARHGAP6_ENST00000380736.1_Silent_p.L131L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	334					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTTGAGCTGAGAGATGAGT	0.507																																																	0													164	124	138					X																	11206923		2203	4300	6503	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1002C>G	X.37:g.11206923G>C			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L334	ENST00000337414.4	37	c.1002	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.507	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11206923	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	silent	SNP	1.000	C	C	11206923	G	C	11206923	2	2	13	1	0	0	0	0	0	0	0	1	887	1277	45	1		1	ARHGAP6	23	11206923	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1342743	11206923	144063637	852	2296										
TCEANC	170082	genome.wustl.edu	37	chrX	13681559	13681559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgcaaagtcactgtaattgAcagaggaacacttttccttc	7	9	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:13681559A>G	ENST00000380600.1	+	2	1019	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TCEANC_ENST00000314720.4_Missense_Mutation_p.D341G|TCEANC_ENST00000544987.1_Missense_Mutation_p.D311G|TCEANC_ENST00000545566.1_Missense_Mutation_p.D311G|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	311					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						ACTGTAATTGACAGAGGAACA	0.413																																																	0													48	38	41					X																	13681559		1908	4099	6007	SO:0001583	missense	170082				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.932A>G	X.37:g.13681559A>G	ENSP00000369974:p.Asp311Gly		A6NI06|B2RDM3	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel	p.D341G	ENST00000380600.1	37	c.1022		X	.	.	.	.	.	.	.	.	.	.	A	10.62	1.402585	0.25291	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.42900	0.97;0.97;0.96;0.97	5.41	3.6	0.41247	.	0.502377	0.18486	N	0.139796	T	0.22666	0.0547	N	0.08118	0	0.24613	N	0.993716	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.001	T	0.14615	-1.0466	10	0.11794	T	0.64	.	13.9473	0.64094	0.2797:0.7203:0.0:0.0	.	341;311	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	G	311;311;341;311	ENSP00000438952:D311G;ENSP00000440038:D311G;ENSP00000313886:D341G;ENSP00000369974:D311G	ENSP00000313886:D341G	D	+	2	0	TCEANC	13591480	1.000000	0.71417	0.540000	0.28089	0.878000	0.50629	3.662000	0.54510	0.467000	0.27218	-0.223000	0.12442	GAC	TCEANC	-	pirsf_TF_IIS-rel		0.413	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	A	NM_152634		13681559	1	no_errors	ENST00000314720	ensembl	human	known	70_37	missense	SNP	0.996	G	G	13681559	A	G	13681559	3	3	13	1	0	0	0	0	1	0	0	0	15708	275	10	5	1028	5	TCEANC	23	13681559	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	2474636	13681559	141589001	853	2297										
OFD1	8481	genome.wustl.edu	37	chrX	13779245	13779245	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cttcccccagtccttgtcctGacagaatgcccctaccatca	5	18	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:13779245G>C	ENST00000340096.6	+	17	2629	c.2302G>C	c.(2302-2304)Gac>Cac	p.D768H	OFD1_ENST00000380550.3_Missense_Mutation_p.D728H|OFD1_ENST00000380567.1_Missense_Mutation_p.D628H|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	768	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTCCTGACAGAATGCC	0.522																																																	0													153	111	126					X																	13779245		2203	4300	6503	SO:0001583	missense	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2302G>C	X.37:g.13779245G>C	ENSP00000344314:p.Asp768His		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D768H	ENST00000340096.6	37	c.2302	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457345	0.63401	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.97256	-4.31;-4.28;-2.14	5.03	4.13	0.48395	.	1.091110	0.06942	N	0.812927	D	0.97904	0.9311	M	0.64997	1.995	0.20489	N	0.999896	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.986;1.0	D;D;D;P;D	0.69479	0.964;0.964;0.925;0.789;0.964	D	0.90750	0.4656	10	0.59425	D	0.04	-5.0167	10.5037	0.44821	0.0:0.1923:0.8077:0.0	.	768;728;436;628;768	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	H	728;768;628	ENSP00000369923:D728H;ENSP00000344314:D768H;ENSP00000369941:D628H	ENSP00000344314:D768H	D	+	1	0	OFD1	13689166	0.157000	0.22836	0.004000	0.12327	0.491000	0.33493	2.243000	0.43115	0.988000	0.38734	0.600000	0.82982	GAC	OFD1	-	NULL		0.522	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	G	NM_003611		13779245	1	no_errors	ENST00000340096	ensembl	human	known	70_37	missense	SNP	0.008	C	C	13779245	G	C	13779245	3	2	13	1	0	0	0	0	1	0	0	0	10862	1290	45	1	2368	1	OFD1	23	13779245	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	97686	13779245	141491315	854	2298										
AP1S2	8905	genome.wustl.edu	37	chrX	15870500	15870500	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aatcttcagatctcgccactCaaggaagctgcacattttag	7	11	4	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:15870500C>G	ENST00000329235.2	-	2	391	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	AP1S2_ENST00000545766.1_Missense_Mutation_p.E92Q|AP1S2_ENST00000380291.1_Missense_Mutation_p.E50Q|AP1S2_ENST00000421527.2_Missense_Mutation_p.E92Q	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	50					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					TCTCGCCACTCAAGGAAGCTG	0.358																																																	0													87	71	77					X																	15870500		2203	4300	6503	SO:0001583	missense	8905			AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 5", "Pettigrew X-linked mental retardation syndrome"	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.148G>C	X.37:g.15870500C>G	ENSP00000328789:p.Glu50Gln		B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	p.E92Q	ENST00000329235.2	37	c.274	CCDS14173.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.5|21.5|21.5	4.165009|4.165009|4.165009	0.78339|0.78339|0.78339	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000450644|ENST00000452376	.|.|.	.|.|.	.|.|.	5.93|5.93|5.93	5.07|5.07|5.07	0.68467|0.68467|0.68467	Longin-like (1);AP complex, mu/sigma subunit (1);|.|.	0.057628|.|.	0.64402|.|.	D|.|.	0.000003|.|.	T|T|.	0.78799|0.78799|.	0.4340|0.4340|.	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B;P|.|.	0.35628|.|.	0.319;0.131;0.441;0.339;0.339;0.513|.|.	B;B;B;B;B;B|.|.	0.42030|.|.	0.136;0.269;0.197;0.322;0.322;0.373|.|.	T|T|.	0.81376|0.81376|.	-0.0961|-0.0961|.	9|6|.	0.72032|0.87932|.	D|D|.	0.01|0|.	-16.5932|-16.5932|-16.5932	14.1877|14.1877|14.1877	0.65617|0.65617|0.65617	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.|.	50;92;92;50;50;47|.|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.|.	.;.;.;.;AP1S2_HUMAN;.|.|.	Q|F|S	50;50;92;92;47|42|46	.|.|.	ENSP00000328789:E50Q|ENSP00000389474:L42F|.	E|L|X	-|-|-	1|3|2	0|2|2	AP1S2|AP1S2|AP1S2	15780421|15780421|15780421	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	1.258000|1.258000|1.258000	0.44101|0.44101|0.44101	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	GAG|TTG|TGA	AP1S2	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom		0.358	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S2	HGNC	protein_coding	OTTHUMT00000055893.1	C	NM_003916		15870500	-1	no_errors	ENST00000421527	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15870500	C	G	15870500	3	3	13	1	0	0	0	0	1	0	0	0	737	835	29	1	341	1	AP1S2	23	15870500	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2091255	15870500	139400060	855	2299										
CTPS2	56474	genome.wustl.edu	37	chrX	16701275	16701275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gttccagggctttgaacacaGaggcgtagcagtctctgagc	13	10	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:16701275G>A	ENST00000443824.1	-	9	1690	c.947C>T	c.(946-948)tCt>tTt	p.S316F	CTPS2_ENST00000380241.3_Missense_Mutation_p.S316F|CTPS2_ENST00000359276.4_Missense_Mutation_p.S316F	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	316	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTTGAACACAGAGGCGTAGCA	0.468																																																	0													213	178	189					X																	16701275		2203	4300	6503	SO:0001583	missense	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.947C>T	X.37:g.16701275G>A	ENSP00000401264:p.Ser316Phe		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.S316F	ENST00000443824.1	37	c.947	CCDS14175.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512918	0.85389	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.92699	-3.09;-3.09;-3.09	5.75	5.75	0.90469	Glutamine amidotransferase type 1 (2);	0.000000	0.64402	D	0.000005	D	0.98115	0.9378	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99774	1.1025	10	0.87932	D	0	-17.4382	18.9111	0.92485	0.0:0.0:1.0:0.0	.	316	Q9NRF8	PYRG2_HUMAN	F	316	ENSP00000401264:S316F;ENSP00000369590:S316F;ENSP00000352222:S316F	ENSP00000352222:S316F	S	-	2	0	CTPS2	16611196	1.000000	0.71417	0.100000	0.21137	0.890000	0.51754	9.188000	0.94921	2.413000	0.81919	0.600000	0.82982	TCT	CTPS2	-	pfam_GATASE_1,tigrfam_CTP_synthase		0.468	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1	G	NM_019857		16701275	-1	no_errors	ENST00000359276	ensembl	human	known	70_37	missense	SNP	0.995	A	A	16701275	G	A	16701275	3	1	13	1	0	0	0	0	1	0	0	0	4028	942	33	1	853	1	CTPS2	23	16701275	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	830775	16701275	138569285	856	2300										
NHS	4810	genome.wustl.edu	37	chrX	17744529	17744529	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ctttctggaaaagtctccatCagacaaagcggacactagct	8	11	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:17744529C>T	ENST00000380060.3	+	6	2578	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	NHS_ENST00000398097.3_Missense_Mutation_p.S591L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	768					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGTCTCCATCAGACAAAGCG	0.493																																																	0													94	90	91					X																	17744529		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2240C>T	X.37:g.17744529C>T	ENSP00000369400:p.Ser747Leu		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.S747L	ENST00000380060.3	37	c.2240	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067042	0.76301	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.55234	0.53;0.62	6.03	6.03	0.97812	.	0.106561	0.64402	D	0.000003	T	0.76097	0.3940	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.986;0.986;0.986;1.0	P;P;P;D	0.83275	0.88;0.88;0.88;0.996	T	0.78181	-0.2304	10	0.72032	D	0.01	-10.8688	19.4774	0.94994	0.0:1.0:0.0:0.0	.	768;589;591;747	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	747;591;589	ENSP00000369400:S747L;ENSP00000381170:S591L	ENSP00000369397:S589L	S	+	2	0	NHS	17654450	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	7.818000	0.86416	2.554000	0.86153	0.600000	0.82982	TCA	NHS	-	NULL		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744529	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.997	T	T	17744529	C	T	17744529	3	4	13	1	0	0	0	0	1	0	0	0	10435	838	29	1	2367	1	NHS	23	17744529	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	1043254	17744529	137526031	857	2301										
RAI2	10742	genome.wustl.edu	37	chrX	17819933	17819933	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	accttcagagccatgccactCtgagactcggcaggggggtt	13	12	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:17819933C>T	ENST00000545871.1	-	3	658	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RAI2_ENST00000331511.1_Silent_p.Q66Q|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000451717.1_Silent_p.Q66Q|RAI2_ENST00000360011.1_Silent_p.Q66Q	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	66					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCATGCCACTCTGAGACTCGG	0.617																																																	0													76	77	77					X																	17819933		2203	4300	6503	SO:0001819	synonymous_variant	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.198G>A	X.37:g.17819933C>T			B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	NULL	p.Q66	ENST00000545871.1	37	c.198	CCDS14183.1	X																																																																																			RAI2	-	NULL		0.617	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	C	NM_021785		17819933	-1	no_errors	ENST00000331511	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17819933	C	T	17819933	2	4	13	1	0	0	0	0	0	0	0	1	13039	912	32	1		1	RAI2	23	17819933	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	75404	17819933	137450627	858	2302										
CDKL5	6792	genome.wustl.edu	37	chrX	18622091	18622091	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agcaaggacatccagaacctGagtgtaggcctgccccgggc	13	13	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18622091G>A	ENST00000379989.3	+	13	1332	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	CDKL5_ENST00000379996.3_Silent_p.L349L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	349					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCCAGAACCTGAGTGTAGGCC	0.468																																																	0													145	148	147					X																	18622091		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1047G>A	X.37:g.18622091G>A			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L349	ENST00000379989.3	37	c.1047	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.468	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	G	NM_003159		18622091	1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.990	A	A	18622091	G	A	18622091	2	1	13	1	0	0	0	0	0	0	0	1	3162	1277	45	1		1	CDKL5	23	18622091	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	802158	18622091	136648469	859	2303										
CDKL5	6792	genome.wustl.edu	37	chrX	18671622	18671622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gcccaggtaaaccaagctgcGctcctgacataccatgagaa	9	13	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18671622G>A	ENST00000379989.3	+	22	3336	c.3051G>A	c.(3049-3051)gcG>gcA	p.A1017A	CDKL5_ENST00000379996.3_Silent_p.A1017A|RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1017					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAAGCTGCGCTCCTGACAT	0.557																																																	0													71	52	59					X																	18671622		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3051G>A	X.37:g.18671622G>A			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1017	ENST00000379989.3	37	c.3051	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.557	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	G	NM_003159		18671622	1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.000	A	A	18671622	G	A	18671622	2	1	13	1	0	0	0	0	0	0	0	1	3162	1074	38	2		2	CDKL5	23	18671622	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	49531	18671622	136598938	860	2304										
PPEF1	5475	genome.wustl.edu	37	chrX	18845465	18845465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actacaatgttcacattgatGattcccaagtcaataagctt	5	9	2	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18845465G>C	ENST00000361511.4	+	19	2316	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.D546H|PPEF1_ENST00000359763.6_Missense_Mutation_p.D555H|PPEF1_ENST00000544635.1_Missense_Mutation_p.D543H	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	608	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACATTGATGATTCCCAAGT	0.368																																																	0													144	129	134					X																	18845465		2203	4300	6503	SO:0001583	missense	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1822G>C	X.37:g.18845465G>C	ENSP00000354871:p.Asp608His		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.D608H	ENST00000361511.4	37	c.1822	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212440	0.39102	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.52	5.52	0.82312	EF-hand-like domain (1);	0.104471	0.41294	D	0.000909	D	0.85199	0.5642	M	0.71296	2.17	0.47276	D	0.999374	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.943;0.981;0.943	D	0.85379	0.1118	10	0.46703	T	0.11	-15.3915	17.1066	0.86665	0.0:0.0:1.0:0.0	.	546;608;580	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	H	608;555;546;543;70	ENSP00000354871:D608H;ENSP00000352806:D555H;ENSP00000341892:D546H;ENSP00000441289:D543H;ENSP00000419273:D70H	ENSP00000341892:D546H	D	+	1	0	PPEF1	18755386	1.000000	0.71417	0.899000	0.35326	0.063000	0.16089	7.011000	0.76359	2.304000	0.77564	0.594000	0.82650	GAT	PPEF1	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2		0.368	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	G	NM_006240		18845465	1	no_errors	ENST00000361511	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18845465	G	C	18845465	3	2	13	1	0	0	0	0	1	0	0	0	12331	1290	45	1	1884	1	PPEF1	23	18845465	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	173843	18845465	136425095	861	2305										
PHKA2	5256	genome.wustl.edu	37	chrX	18969235	18969235	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agctcacctgaggcggtcatCtgggccaggaacaggaggaa	15	10	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18969235C>T	ENST00000379942.4	-	4	1106	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	147					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGCGGTCATCTGGGCCAGGA	0.617																																																	0													86	68	74					X																	18969235		2203	4300	6503	SO:0001819	synonymous_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.441G>A	X.37:g.18969235C>T			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q147	ENST00000379942.4	37	c.441	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.617	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18969235	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18969235	C	T	18969235	2	4	13	1	0	0	0	0	0	0	0	1	11868	912	32	1		1	PHKA2	23	18969235	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	123770	18969235	136301325	862	2306										
PHEX	5251	genome.wustl.edu	37	chrX	22239804	22239804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagaaaagtttaaggaaaaaAcaaaatgcatgattaaccag	7	4	0	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:22239804A>G	ENST00000379374.4	+	18	2408	c.1843A>G	c.(1843-1845)Aca>Gca	p.T615A	PHEX_ENST00000537599.1_Missense_Mutation_p.T615A|PHEX_ENST00000535894.1_Missense_Mutation_p.T518A|PHEX_ENST00000418858.3_Missense_Mutation_p.T318A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	615					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAAGGAAAAAACAAAATGCAT	0.368																																																	0													103	98	100					X																	22239804		2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1843A>G	X.37:g.22239804A>G	ENSP00000368682:p.Thr615Ala		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T615A	ENST00000379374.4	37	c.1843	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511387	0.44660	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.96	4.73	0.59995	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.045227	0.85682	D	0.000000	T	0.59128	0.2171	N	0.12920	0.275	0.58432	D	0.999998	P;P	0.38827	0.649;0.477	B;B	0.34590	0.117;0.186	T	0.63888	-0.6535	10	0.02654	T	1	.	11.1523	0.48466	0.8603:0.0:0.0:0.1397	.	615;615	F5GXU4;P78562	.;PHEX_HUMAN	A	615;615;518;318	ENSP00000368682:T615A;ENSP00000440362:T615A;ENSP00000439418:T518A;ENSP00000443531:T318A	ENSP00000368682:T615A	T	+	1	0	PHEX	22149725	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.480000	0.66820	2.002000	0.58637	0.486000	0.48141	ACA	PHEX	-	pfam_Peptidase_M13_C		0.368	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	A	NM_000444		22239804	1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22239804	A	G	22239804	3	3	13	1	0	0	0	0	1	0	0	0	11843	43	2	5	1913	5	PHEX	23	22239804	Missense_Mutation	SNP	A	TCGA-C5-A1BQ-01C-11D-A20U-09	3270569	22239804	133030756	863	2307										
CXorf21	80231	genome.wustl.edu	37	chrX	30577856	30577856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actcattcagaactgcattaGaaataggattctgcatttgc	7	8	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:30577856G>A	ENST00000378962.3	-	3	939	c.617C>T	c.(616-618)tCt>tTt	p.S206F		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	206								p.S206F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AACTGCATTAGAAATAGGATT	0.418																																																	1	Substitution - Missense(1)	lung(1)											144	130	135					X																	30577856		2202	4300	6502	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.617C>T	X.37:g.30577856G>A	ENSP00000368245:p.Ser206Phe			Missense_Mutation	SNP	NULL	p.S206F	ENST00000378962.3	37	c.617	CCDS14224.1	X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030636	0.75504	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82376	-0.0488	9	0.87932	D	0	-17.7037	17.6374	0.88127	0.0:0.0:1.0:0.0	.	206	Q9HAI6	CX021_HUMAN	F	206	.	ENSP00000368245:S206F	S	-	2	0	CXorf21	30487777	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.043000	0.93799	2.351000	0.79841	0.513000	0.50165	TCT	CXorf21	-	NULL		0.418	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf21	HGNC	protein_coding	OTTHUMT00000056164.1	G	NM_025159		30577856	-1	no_errors	ENST00000378962	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30577856	G	A	30577856	3	1	13	1	0	0	0	0	1	0	0	0	4106	942	33	1	292	1	CXorf21	23	30577856	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	8338052	30577856	124692704	864	2308										
DMD	1756	genome.wustl.edu	37	chrX	32380950	32380950	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atggctgcaaatcgatggttGagctctgagatttggggctc	14	7	1	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:32380950G>C	ENST00000357033.4	-	37	5486	c.5280C>G	c.(5278-5280)ctC>ctG	p.L1760L	DMD_ENST00000378677.2_Silent_p.L1756L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1760	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGATGGTTGAGCTCTGAGA	0.478																																																	0													231	172	192					X																	32380950		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5280C>G	X.37:g.32380950G>C			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,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.L1760	ENST00000357033.4	37	c.5280	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.478	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32380950	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	silent	SNP	1.000	C	C	32380950	G	C	32380950	2	2	13	1	0	0	0	0	0	0	0	1	4590	1277	45	1		1	DMD	23	32380950	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1803094	32380950	122889610	865	2309										
CYBB	1536	genome.wustl.edu	37	chrX	37663271	37663271	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttacactgacatccgcccctGaggaagacttctttagtatc	7	12	1	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:37663271G>A	ENST00000378588.4	+	9	1106	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_Missense_Mutation_p.E80K|CYBB_ENST00000545017.1_Missense_Mutation_p.E315K	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	347	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ATCCGCCCCTGAGGAAGACTT	0.493																																																	0													90	84	86					X																	37663271		2202	4300	6502	SO:0001583	missense	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1039G>A	X.37:g.37663271G>A	ENSP00000367851:p.Glu347Lys		A8K138|Q2PP16	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.E347K	ENST00000378588.4	37	c.1039	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616212	0.87359	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.92495	-3.05;-3.05;-3.05	5.77	5.77	0.91146	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95663	0.8717	10	0.48119	T	0.1	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	315;347	F5GWD2;P04839	.;CY24B_HUMAN	K	347;315;80	ENSP00000367851:E347K;ENSP00000441896:E315K;ENSP00000441958:E80K	ENSP00000367851:E347K	E	+	1	0	CYBB	37548215	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	9.476000	0.97823	2.430000	0.82344	0.544000	0.68410	GAG	CYBB	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.493	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	G			37663271	1	no_errors	ENST00000378588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37663271	G	A	37663271	3	1	13	1	0	0	0	0	1	0	0	0	4138	1291	45	1	1073	1	CYBB	23	37663271	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	5282321	37663271	117607289	866	2310										
RPGR	6103	genome.wustl.edu	37	chrX	38156567	38156567	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tggctgcatgaggtcctgttCagataagacactctcttgga	11	9	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:38156567C>T	ENST00000339363.3	-	11	1551	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	RPGR_ENST00000378505.2_Missense_Mutation_p.E462K|RPGR_ENST00000338898.3_Missense_Mutation_p.E462K|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.E462K|RPGR_ENST00000309513.3_Missense_Mutation_p.E400K|RPGR_ENST00000318842.7_Missense_Mutation_p.E462K			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	462					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGTCCTGTTCAGATAAGACA	0.433																																																	0													117	108	111					X																	38156567		2202	4300	6502	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1384G>A	X.37:g.38156567C>T	ENSP00000343671:p.Glu462Lys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E462K	ENST00000339363.3	37	c.1384		X	.	.	.	.	.	.	.	.	.	.	C	4.808	0.150294	0.09185	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.50001	1.27;0.96;0.76;1.33;1.33;1.31	3.61	-0.064	0.13774	.	1.730580	0.03267	N	0.184140	T	0.33904	0.0879	L	0.39898	1.24	0.09310	N	1	B;B	0.27656	0.184;0.021	B;B	0.22753	0.041;0.013	T	0.10042	-1.0647	10	0.06625	T	0.88	.	6.297	0.21091	0.0:0.2727:0.0:0.7273	.	462;462	E9PE28;Q92834-2	.;.	K	462;400;462;462;462;462	ENSP00000343671:E462K;ENSP00000308783:E400K;ENSP00000340208:E462K;ENSP00000322219:E462K;ENSP00000339531:E462K;ENSP00000367766:E462K	ENSP00000308783:E400K	E	-	1	0	RPGR	38041511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.037000	0.12164	-0.160000	0.11002	-0.387000	0.06579	GAA	RPGR	-	NULL		0.433	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38156567	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	missense	SNP	0.000	T	T	38156567	C	T	38156567	3	4	13	1	0	0	0	0	1	0	0	0	13578	835	29	1	2653	1	RPGR	23	38156567	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	493296	38156567	117113993	867	2311										
ZNF674	641339	genome.wustl.edu	37	chrX	46359523	46359523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	actgaaggcttttttacagtCagtgcattcatagggtctct	9	8	3	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:46359523C>T	ENST00000523374.1	-	6	1711	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Missense_Mutation_p.D495N	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TTTTTACAGTCAGTGCATTCA	0.398																																																	0													72	66	68					X																	46359523		2173	4281	6454	SO:0001583	missense	641339			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"Zinc fingers, C2H2-type", "-"	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1501G>A	X.37:g.46359523C>T	ENSP00000429148:p.Asp501Asn		B4DHE2|E9PHQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D501N	ENST00000523374.1	37	c.1501	CCDS48099.1	X	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821302	0.16678	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.07327	3.2;3.2	2.33	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	L	0.28274	0.84	0.09310	N	0.999999	B;P	0.45768	0.001;0.866	B;P	0.45794	0.002;0.493	T	0.29119	-1.0022	9	0.62326	D	0.03	.	6.7873	0.23679	0.0:0.8395:0.0:0.1605	.	495;501	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	N	501;495	ENSP00000429148:D501N;ENSP00000428248:D495N	ENSP00000428248:D495N	D	-	1	0	ZNF674	46244467	0.000000	0.05858	0.933000	0.37362	0.425000	0.31504	-0.404000	0.07205	0.434000	0.26340	0.529000	0.55759	GAC	ZNF674	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	C	NM_001039891		46359523	-1	no_errors	ENST00000523374	ensembl	human	known	70_37	missense	SNP	0.595	T	T	46359523	C	T	46359523	3	4	13	1	0	0	0	0	1	0	0	0	18111	826	29	1	248	1	ZNF674	23	46359523	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	8202956	46359523	108911037	868	2312										
ELK1	2002	genome.wustl.edu	37	chrX	47496289	47496289	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	agaggccatccacgctgataGaagggatgtgcacctgggcg	15	10	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:47496289G>A	ENST00000247161.3	-	6	1325	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	ELK1_ENST00000376983.3_Missense_Mutation_p.S409F|ELK1_ENST00000592066.1_Missense_Mutation_p.S355F	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	409					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACGCTGATAGAAGGGATGTG	0.617																																																	0													23	21	21					X																	47496289		2189	4265	6454	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1226C>T	X.37:g.47496289G>A	ENSP00000247161:p.Ser409Phe		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S409F	ENST00000247161.3	37	c.1226	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407573	0.83340	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.51071	0.72;0.72	5.19	5.19	0.71726	.	0.119337	0.64402	D	0.000020	T	0.57315	0.2045	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.59989	-0.7350	10	0.56958	D	0.05	.	15.075	0.72071	0.0:0.0:1.0:0.0	.	409	P19419	ELK1_HUMAN	F	409;102;409	ENSP00000247161:S409F;ENSP00000366182:S409F	ENSP00000247161:S409F	S	-	2	0	ELK1	47381233	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.097000	0.50251	2.146000	0.66826	0.513000	0.50165	TCT	ELK1	-	NULL		0.617	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	G	NM_005229		47496289	-1	no_errors	ENST00000247161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47496289	G	A	47496289	3	1	13	1	0	0	0	0	1	0	0	0	5071	942	33	1	64	1	ELK1	23	47496289	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1136766	47496289	107774271	869	2313										
SSX4	548313	genome.wustl.edu	37	chrX	48270279	48270279	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcttttcccactctttcttaGagaagtatttggcaatatca	5	9	4	1	rs371037826		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48270279G>C	ENST00000376884.2	-	3	155	c.98C>G	c.(97-99)tCt>tGt	p.S33C	SSX4B_ENST00000396928.1_Missense_Mutation_p.S33C	NM_001034832.3	NP_001030004.1	O60224	SSX4_HUMAN	synovial sarcoma, X breakpoint 4B	33	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			lung(1)	1						CTCTTTCTTAGAGAAGTATTT	0.403																																																	0													34	42	40					X																	48270279		2179	4261	6440	SO:0001583	missense	548313				CCDS35241.1, CCDS43935.1	Xp11.23	2008-02-05			ENSG00000198946	ENSG00000269791			16880	protein-coding gene	gene with protein product							Standard	NM_001034832		Approved	OTTHUMT00000056510	uc004djf.2	O60224	OTTHUMG00000021497	ENST00000376884.2:c.98C>G	X.37:g.48270279G>C	ENSP00000366081:p.Ser33Cys		A8MYD4|B2RPE3|Q3SYD4|Q5JQZ0|Q9UJU9	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S33C	ENST00000376884.2	37	c.98	CCDS35241.1	X	.	.	.	.	.	.	.	.	.	.	N	9.819	1.185165	0.21870	.	.	ENSG00000198946	ENST00000376884;ENST00000396928	T;T	0.01234	5.13;5.13	1.64	0.707	0.18139	.	0.449458	0.19254	N	0.118855	T	0.06416	0.0165	M	0.93328	3.405	0.09310	N	1	.	.	.	.	.	.	T	0.05386	-1.0888	8	0.62326	D	0.03	.	5.4265	0.16429	0.0:0.3536:0.6464:0.0	.	.	.	.	C	33	ENSP00000366081:S33C;ENSP00000380134:S33C	ENSP00000366081:S33C	S	-	2	0	SSX4B	48155223	0.949000	0.32298	0.089000	0.20774	0.056000	0.15407	2.222000	0.42926	0.176000	0.19873	0.110000	0.15639	TCT	SSX4B	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.403	SSX4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX4B	HGNC	protein_coding	OTTHUMT00000056510.2	G			48270279	-1	no_errors	ENST00000376884	ensembl	human	known	70_37	missense	SNP	0.093	C	C	48270279	G	C	48270279	3	2	13	1	0	0	0	0	1	0	0	0	15236	942	33	1	1149	1	SSX4	23	48270279	Missense_Mutation	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	773990	48270279	107000281	870	2314										
TBC1D25	4943	genome.wustl.edu	37	chrX	48418773	48418773	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	accacctggccacagccagtCaggggcctggtggtgggggg	18	12	1	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48418773C>T	ENST00000376771.4	+	6	1818	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Nonsense_Mutation_p.Q239*	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	493					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACAGCCAGTCAGGGGCCTGG	0.637																																																	0													30	34	32					X																	48418773		2203	4295	6498	SO:0001587	stop_gained	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1477C>T	X.37:g.48418773C>T	ENSP00000365962:p.Gln493*		Q08AN9|Q3MII4|Q8TAR9	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q493*	ENST00000376771.4	37	c.1477	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002965	0.74932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	.	.	.	4.91	3.06	0.35304	.	0.612418	0.15462	N	0.261069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-2.1338	8.5797	0.33621	0.1664:0.6732:0.1605:0.0	.	.	.	.	X	493;239	.	ENSP00000365962:Q493X	Q	+	1	0	TBC1D25	48303717	0.571000	0.26659	0.829000	0.32907	0.194000	0.23727	1.569000	0.36428	2.275000	0.75901	0.436000	0.28706	CAG	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom		0.637	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	C	NM_002536		48418773	1	no_errors	ENST00000376771	ensembl	human	known	70_37	nonsense	SNP	0.072	T	T	48418773	C	T	48418773	4	4	13	1	0	0	0	0	0	1	0	0	15645	827	29	1	1499	1	TBC1D25	23	48418773	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	148494	48418773	106851787	871	2315										
CCDC120	90060	genome.wustl.edu	37	chrX	48922114	48922114	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tcccagtgctcccgctgcccCagccactgccactgtccacg	8	21	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48922114C>T	ENST00000376396.3	+	6	757	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	CCDC120_ENST00000536628.2_Nonsense_Mutation_p.Q168*|CCDC120_ENST00000597275.1_Nonsense_Mutation_p.Q180*|CCDC120_ENST00000422185.2_Nonsense_Mutation_p.Q180*|CCDC120_ENST00000603986.1_Nonsense_Mutation_p.Q215*|CCDC120_ENST00000496529.2_Nonsense_Mutation_p.Q180*	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	180										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCGCTGCCCCAGCCACTGCC	0.662																																																	0													18	15	16					X																	48922114		2183	4282	6465	SO:0001587	stop_gained	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.538C>T	X.37:g.48922114C>T	ENSP00000365577:p.Gln180*		B4DFC1|B4DTU2|F5GZU4	Nonsense_Mutation	SNP	pfam_DUF3338	p.Q180*	ENST00000376396.3	37	c.538	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568345	0.86439	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.37	3.46	0.39613	.	0.168227	0.28952	N	0.013614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-3.8043	8.9525	0.35799	0.2192:0.7807:0.0:0.0	.	.	.	.	X	180;180;168	.	ENSP00000365577:Q180X	Q	+	1	0	CCDC120	48809058	0.959000	0.32827	0.874000	0.34290	0.375000	0.29983	2.407000	0.44565	1.771000	0.52183	0.292000	0.19580	CAG	CCDC120	-	NULL		0.662	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	C	NM_033626		48922114	1	no_errors	ENST00000422185	ensembl	human	known	70_37	nonsense	SNP	0.807	T	T	48922114	C	T	48922114	4	4	13	1	0	0	0	0	0	1	0	0	2761	595	21	4	552	4	CCDC120	23	48922114	Nonsense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	503341	48922114	106348446	872	2316										
ITIH5L	347365	genome.wustl.edu	37	chrX	54784259	54784259	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggagttcgtgggtaatatatCaggattctggtgtgatagag	15	3	2	2	rs368811375		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:54784259C>T	ENST00000218436.6	-	8	2277	c.2248G>A	c.(2248-2250)Gat>Aat	p.D750N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	750	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTAATATATCAGGATTCTGG	0.517																																																	0								C	ASN/ASP	0,3835		0,0,0,1632,571	124	118	120		2248	0.9	0	X		120	1,6727		0,0,1,2428,1871	no	missense	ITIH5L	NM_198510.2	23	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	750/1314	54784259	1,10562	2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2248G>A	X.37:g.54784259C>T	ENSP00000218436:p.Asp750Asn		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D750N	ENST00000218436.6	37	c.2248	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.121041	0.00346	0.0	1.49E-4	ENSG00000102313	ENST00000218436	T	0.02050	4.48	4.03	0.92	0.19397	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49597	-0.8923	9	0.16896	T	0.51	.	3.07	0.06227	0.3323:0.3905:0.0:0.2772	.	750	Q6UXX5	ITH5L_HUMAN	N	750	ENSP00000218436:D750N	ENSP00000218436:D750N	D	-	1	0	ITIH5L	54800984	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.504000	0.06375	0.035000	0.15519	0.553000	0.69018	GAT	ITIH6	-	NULL		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	C	NM_198510		54784259	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54784259	C	T	54784259	3	4	13	1	0	0	0	0	1	0	0	0	7928	826	29	1	1717	1	ITIH5L	23	54784259	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	5862145	54784259	100486301	873	2317										
NLGN3	54413	genome.wustl.edu	37	chrX	70387001	70387001	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ccgtggatatggtggactgtCttcggcaaaagagtgccaag	14	8	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:70387001C>G	ENST00000358741.3	+	7	1357	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.L312V|NLGN3_ENST00000374051.3_Missense_Mutation_p.L332V	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	352					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGTGGACTGTCTTCGGCAAAA	0.557																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													138	100	113					X																	70387001		2203	4300	6503	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1054C>G	X.37:g.70387001C>G	ENSP00000351591:p.Leu352Val		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L352V	ENST00000358741.3	37	c.1054	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843059	0.71488	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	H	0.95328	3.655	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.993	D;D;P	0.71414	0.928;0.973;0.888	D	0.94103	0.7364	10	0.87932	D	0	.	17.8251	0.88662	0.0:1.0:0.0:0.0	.	312;352;332	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	V	312;215;332;312;352	ENSP00000445298:L312V;ENSP00000363163:L332V;ENSP00000379196:L312V;ENSP00000351591:L352V	ENSP00000351591:L352V	L	+	1	0	NLGN3	70303726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.796000	0.69080	2.398000	0.81561	0.431000	0.28591	CTT	NLGN3	-	pfam_CarbesteraseB		0.557	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	C	NM_018977		70387001	1	no_errors	ENST00000358741	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70387001	C	G	70387001	3	3	13	1	0	0	0	0	1	0	0	0	10487	913	32	1	1076	1	NLGN3	23	70387001	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	15602742	70387001	84883559	874	2318										
RPA4	29935	genome.wustl.edu	37	chrX	96139472	96139472	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cgtgtaatgtgaaccagcttCtcagctctactgtgtttgac							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139472C>T	ENST00000373040.3	+	1	566	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	55					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GAACCAGCTTCTCAGCTCTAC	0.483								Other identified genes with known or suspected DNA repair function																																									0													156	130	139					X																	96139472		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.163C>T	X.37:g.96139472C>T	ENSP00000362131:p.Leu55Phe		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.L55F	ENST00000373040.3	37	c.163	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228696	0.39399	.	.	ENSG00000204086	ENST00000373040	T	0.50277	0.75	3.42	2.56	0.30785	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.33059	0.0850	L	0.52905	1.665	0.09310	N	1	P	0.47545	0.897	B	0.30251	0.113	T	0.34378	-0.9831	9	0.87932	D	0	-23.626	5.7188	0.17974	0.0:0.8505:0.0:0.1495	.	55	Q13156	RFA4_HUMAN	F	55	ENSP00000362131:L55F	ENSP00000362131:L55F	L	+	1	0	RPA4	96026128	0.946000	0.32159	0.099000	0.21106	0.042000	0.13812	0.340000	0.19892	0.817000	0.34445	0.600000	0.82982	CTC	RPA4	-	superfamily_NA-bd_OB-fold-like,pirsf_RPA32		0.483	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139472	1	no_errors	ENST00000373040	ensembl	human	known	70_37	missense	SNP	0.081	T	T	96139472	C	T	96139472	3	4	13	1	0	0	0	0	1	0	0	0	13569	913	32	1	165	1	RPA4	23	96139472	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	25752471	96139472	59131088	875	2319	12	2	4	9		5	4	478	N	C	4.018484e-07
RPA4	29935	genome.wustl.edu	37	chrX	96139479	96139479	+	Missense_Mutation	SNP	C	C	T													0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tgtgaaccagcttctcagctCtactgtgtttgaccctgtgt							TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139479C>T	ENST00000373040.3	+	1	573	c.170C>T	c.(169-171)tCt>tTt	p.S57F	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	57					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CTTCTCAGCTCTACTGTGTTT	0.473								Other identified genes with known or suspected DNA repair function																																									0													153	129	137					X																	96139479		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.170C>T	X.37:g.96139479C>T	ENSP00000362131:p.Ser57Phe		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.S57F	ENST00000373040.3	37	c.170	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866000	0.32977	.	.	ENSG00000204086	ENST00000373040	T	0.47869	0.83	3.42	1.55	0.23275	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.46737	0.1408	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.55545	0.778	T	0.33701	-0.9858	9	0.87932	D	0	-15.4211	8.6292	0.33908	0.0:0.5431:0.4569:0.0	.	57	Q13156	RFA4_HUMAN	F	57	ENSP00000362131:S57F	ENSP00000362131:S57F	S	+	2	0	RPA4	96026135	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.725000	0.25970	0.271000	0.22005	0.600000	0.82982	TCT	RPA4	-	superfamily_NA-bd_OB-fold-like,pirsf_RPA32		0.473	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139479	1	no_errors	ENST00000373040	ensembl	human	known	70_37	missense	SNP	0.000	T	T	96139479	C	T	96139479	3	4	13	1	0	0	0	0	1	0	0	0	13569	913	32	1	172	1	RPA4	23	96139479	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7	96139479	59131081	876	2320	12	2	4	9		5	4	478	N	C	4.018484e-07
RPA4	29935	genome.wustl.edu	37	chrX	96139684	96139684	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ttgtcagtcggagtatatgtCaaagtgtttggtatcctcaa	10	6	3	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139684C>T	ENST00000373040.3	+	1	778	c.375C>T	c.(373-375)gtC>gtT	p.V125V	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	125					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GAGTATATGTCAAAGTGTTTG	0.448								Other identified genes with known or suspected DNA repair function																																									0													117	101	106					X																	96139684		2203	4300	6503	SO:0001819	synonymous_variant	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.375C>T	X.37:g.96139684C>T			Q3SY03	Silent	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.V125	ENST00000373040.3	37	c.375	CCDS35345.1	X																																																																																			RPA4	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32		0.448	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139684	1	no_errors	ENST00000373040	ensembl	human	known	70_37	silent	SNP	0.056	T	T	96139684	C	T	96139684	2	4	13	1	0	0	0	0	0	0	0	1	13569	813	29	1		1	RPA4	23	96139684	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	205	96139684	59130876	877	2321			4	9		5	4	478	N	C	4.018484e-07
RPA4	29935	genome.wustl.edu	37	chrX	96139912	96139912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gagagtcaccgcaatttcatCcaggacgaagtgctgcgttt	11	10	2	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139912C>T	ENST00000373040.3	+	1	1006	c.603C>T	c.(601-603)atC>atT	p.I201I	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	201					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GCAATTTCATCCAGGACGAAG	0.517								Other identified genes with known or suspected DNA repair function																																									0													160	121	134					X																	96139912		2203	4300	6503	SO:0001819	synonymous_variant	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.603C>T	X.37:g.96139912C>T			Q3SY03	Silent	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.I201	ENST00000373040.3	37	c.603	CCDS35345.1	X																																																																																			RPA4	-	pfam_RPA_C,pirsf_RPA32		0.517	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139912	1	no_errors	ENST00000373040	ensembl	human	known	70_37	silent	SNP	0.000	T	T	96139912	C	T	96139912	2	4	13	1	0	0	0	0	0	0	0	1	13569	845	30	1		1	RPA4	23	96139912	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	228	96139912	59130648	878	2322			4	9		5	4	478	N	C	4.018484e-07
RPA4	29935	genome.wustl.edu	37	chrX	96139949	96139949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	gtttgattcatgagtgtcctCatcaggaagggaagagcatc	12	7	3	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139949C>T	ENST00000373040.3	+	1	1043	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	214					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGAGTGTCCTCATCAGGAAGG	0.522								Other identified genes with known or suspected DNA repair function																																									0													145	115	125					X																	96139949		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.640C>T	X.37:g.96139949C>T	ENSP00000362131:p.His214Tyr		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.H214Y	ENST00000373040.3	37	c.640	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926839	0.18056	.	.	ENSG00000204086	ENST00000373040	T	0.43688	0.94	3.39	1.57	0.23409	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.22880	0.042	T	0.20706	-1.0267	9	0.59425	D	0.04	-9.3099	4.0077	0.09608	0.0:0.6158:0.2426:0.1416	.	214	Q13156	RFA4_HUMAN	Y	214	ENSP00000362131:H214Y	ENSP00000362131:H214Y	H	+	1	0	RPA4	96026605	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.320000	0.19540	0.286000	0.22352	0.513000	0.50165	CAT	RPA4	-	pfam_RPA_C,pirsf_RPA32		0.522	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139949	1	no_errors	ENST00000373040	ensembl	human	known	70_37	missense	SNP	0.001	T	T	96139949	C	T	96139949	3	4	13	1	0	0	0	0	1	0	0	0	13569	826	29	1	642	1	RPA4	23	96139949	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	37	96139949	59130611	879	2323			4	9		5	4	478	N	C	4.018484e-07
CENPI	2491	genome.wustl.edu	37	chrX	100382213	100382213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	ggaccttctccagaacctctGaagttgatgttaggtccagc	10	11	2	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:100382213G>A	ENST00000372927.1	+	9	1141	c.864G>A	c.(862-864)ctG>ctA	p.L288L	CENPI_ENST00000372926.1_Silent_p.L288L|CENPI_ENST00000218507.5_Silent_p.L288L|CENPI_ENST00000423383.1_Silent_p.L288L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	288					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CAGAACCTCTGAAGTTGATGT	0.368																																																	0													65	62	63					X																	100382213		2203	4300	6503	SO:0001819	synonymous_variant	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.864G>A	X.37:g.100382213G>A			Q5JWZ9|Q96ED0	Silent	SNP	pfam_Centromere_CenpI	p.L288	ENST00000372927.1	37	c.864	CCDS14479.1	X																																																																																			CENPI	-	pfam_Centromere_CenpI		0.368	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	G	NM_006733		100382213	1	no_errors	ENST00000372927	ensembl	human	known	70_37	silent	SNP	0.000	A	A	100382213	G	A	100382213	2	1	13	1	0	0	0	0	0	0	0	1	3238	1277	45	1		1	CENPI	23	100382213	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	4242264	100382213	54888347	880	2324										
NRK	203447	genome.wustl.edu	37	chrX	105168739	105168739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	aagatggttatgatggaagtCgtggaaaagaggaagcctac	14	4	0	3			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:105168739C>T	ENST00000243300.9	+	19	3331	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	NRK_ENST00000428173.2_Missense_Mutation_p.R1011C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1010					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGATGGAAGTCGTGGAAAAGA	0.468										HNSCC(51;0.14)			C|||	1	0.000264901	8e-04	0	3775	,	,		14598	0		0	False		,,,				2504	0																0													55	53	54					X																	105168739		2036	4176	6212	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3028C>T	X.37:g.105168739C>T	ENSP00000434830:p.Arg1010Cys		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R1011C	ENST00000243300.9	37	c.3031		X	.	.	.	.	.	.	.	.	.	.	C	7.367	0.626078	0.14257	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.08;-1.09	2.86	0.0374	0.14196	.	0.865966	0.09578	N	0.783278	T	0.51753	0.1693	N	0.08118	0	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.12156	0.007;0.003	T	0.39210	-0.9625	10	0.49607	T	0.09	.	3.0662	0.06215	0.2989:0.2369:0.4643:0.0	.	678;1010	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	1010;1011	ENSP00000434830:R1010C;ENSP00000438378:R1011C	ENSP00000434830:R1010C	R	+	1	0	NRK	105055395	0.109000	0.22037	0.001000	0.08648	0.025000	0.11179	-0.007000	0.12810	-0.097000	0.12307	-0.884000	0.02946	CGT	NRK	-	NULL		0.468	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	C	NM_198465		105168739	1	no_errors	ENST00000428173	ensembl	human	known	70_37	missense	SNP	0.001	T	T	105168739	C	T	105168739	3	4	13	1	0	0	0	0	1	0	0	0	10679	884	31	1	3102	1	NRK	23	105168739	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	4786526	105168739	50101821	881	2325										
VSIG1	340547	genome.wustl.edu	37	chrX	107319386	107319386	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	atcatctctgttgtgtgcttCgcaaggaataaggcaaaagc	10	8	2	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:107319386C>T	ENST00000217957.5	+	6	885	c.768C>T	c.(766-768)ttC>ttT	p.F256F	VSIG1_ENST00000415430.3_Silent_p.F292F	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	256						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGTGTGCTTCGCAAGGAATA	0.438																																																	0													187	161	170					X																	107319386		2203	4300	6503	SO:0001819	synonymous_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.768C>T	X.37:g.107319386C>T			C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F292	ENST00000217957.5	37	c.876	CCDS14535.1	X																																																																																			VSIG1	-	NULL		0.438	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	C	NM_182607		107319386	1	no_errors	ENST00000415430	ensembl	human	known	70_37	silent	SNP	0.008	T	T	107319386	C	T	107319386	2	4	13	1	0	0	0	0	0	0	0	1	17253	883	31	1		1	VSIG1	23	107319386	Silent	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	2150647	107319386	47951174	882	2326										
CAPN6	827	genome.wustl.edu	37	chrX	110491187	110491187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	tagccacgagccaggttccaGcaggacattttgggcatgtc	12	11	0	0			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:110491187G>A	ENST00000324068.1	-	11	1685	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C	CAPN6_ENST00000541758.1_Silent_p.C251C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	506					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGGTTCCAGCAGGACATTT	0.423																																																	0													201	187	192					X																	110491187		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1518C>T	X.37:g.110491187G>A			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.C506	ENST00000324068.1	37	c.1518	CCDS14555.1	X																																																																																			CAPN6	-	NULL		0.423	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	G			110491187	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	silent	SNP	1.000	A	A	110491187	G	A	110491187	2	1	13	1	0	0	0	0	0	0	0	1	2635	963	34	4		4	CAPN6	23	110491187	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	3171801	110491187	44779373	883	2327										
LHFPL1	340596	genome.wustl.edu	37	chrX	111914586	111914586	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	acaagggacaggaaggcccaGagggttcccaccatggtcag	14	11	1	1			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:111914586G>A	ENST00000371968.3	-	2	272	c.33C>T	c.(31-33)ctC>ctT	p.L11L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L11L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	11						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGAAGGCCCAGAGGGTTCCCA	0.522																																																	0													175	165	168					X																	111914586		2203	4300	6503	SO:0001819	synonymous_variant	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.33C>T	X.37:g.111914586G>A			A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.L11	ENST00000371968.3	37	c.33	CCDS14562.1	X																																																																																			LHFPL1	-	pfam_Lipome_HGMIC_fus_partner-like		0.522	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL1	HGNC	protein_coding	OTTHUMT00000057947.1	G	NM_178175		111914586	-1	no_errors	ENST00000371968	ensembl	human	known	70_37	silent	SNP	1.000	A	A	111914586	G	A	111914586	2	1	13	1	0	0	0	0	0	0	0	1	8784	929	33	1		1	LHFPL1	23	111914586	Silent	SNP	G	TCGA-C5-A1BQ-01C-11D-A20U-09	1423399	111914586	43355974	884	2328										
NKAP	79576	genome.wustl.edu	37	chrX	119064010	119064010	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.64	560	6.90178225277364e-245	4.47074325920217	5.13922582272097	3.98160967613963	0.384026774725622	0.626060456275384	435	cattacataacctgagcattCaaatgatgcaatttcttcac	4	10	3	2			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:119064010C>G	ENST00000371410.3	-	8	1208	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	348	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CCTGAGCATTCAAATGATGCA	0.383																																																	0													177	155	163					X																	119064010		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1042G>C	X.37:g.119064010C>G	ENSP00000360464:p.Glu348Gln		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.E348Q	ENST00000371410.3	37	c.1042	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400795	0.83120	.	.	ENSG00000101882	ENST00000371410	T	0.56275	0.47	5.29	4.43	0.53597	.	0.045709	0.85682	D	0.000000	T	0.77398	0.4124	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82398	-0.0477	10	0.87932	D	0	-21.9479	12.2289	0.54476	0.0:0.9171:0.0:0.0829	.	348	Q8N5F7	NKAP_HUMAN	Q	348	ENSP00000360464:E348Q	ENSP00000360464:E348Q	E	-	1	0	NKAP	118948038	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.599000	0.82757	1.237000	0.43756	0.529000	0.55759	GAA	NKAP	-	pfam_DUF926		0.383	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	C	NM_024528		119064010	-1	no_errors	ENST00000371410	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119064010	C	G	119064010	3	3	13	1	0	0	0	0	1	0	0	0	10463	835	29	1	213	1	NKAP	23	119064010	Missense_Mutation	SNP	C	TCGA-C5-A1BQ-01C-11D-A20U-09	7149424	119064010	36206550	885	2329										
EIF2C1	26523	genome.wustl.edu	37	chr1	36372633	36372633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	atgcacagggggcagacagcGtggagcctatgttccggcat	15	10	0	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:36372633G>A	ENST00000373204.4	+	12	1708	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	AGO1_ENST00000373206.1_Missense_Mutation_p.V424M	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	499					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGCAGACAGCGTGGAGCCTAT	0.532																																																	0													132	107	115					1																	36372633		2203	4300	6503	SO:0001583	missense	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1495G>A	1.37:g.36372633G>A	ENSP00000362300:p.Val499Met		Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.V499M	ENST00000373204.4	37	c.1495	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.184166	0.94885	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.12465	2.68;2.68	5.58	5.58	0.84498	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	H	0.95004	3.61	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.65553	-0.6140	10	0.87932	D	0	-21.5125	19.5797	0.95461	0.0:0.0:1.0:0.0	.	499	Q9UL18	AGO1_HUMAN	M	424;499	ENSP00000362302:V424M;ENSP00000362300:V499M	ENSP00000362300:V499M	V	+	1	0	EIF2C1	36145220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.623000	0.88846	0.650000	0.86243	GTG	EIF2C1	-	superfamily_RNaseH-like_dom		0.532	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	G			36372633	1	no_errors	ENST00000373204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36372633	G	A	36372633	3	1	14	1	0	0	0	0	1	0	0	0	5015	1145	40	2	1541	2	EIF2C1	1	36372633	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		36372633	212877988	1	2330										
LEPRE1	64175	genome.wustl.edu	37	chr1	43223463	43223464	+	Frame_Shift_Ins	INS	-	-	C													0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	agtctctcacctcacgggggINSccgatggatctggtgtgttc					rs202234531	byFrequency	TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:43223463_43223464insC	ENST00000296388.5	-	5	1121_1122	c.1070_1071insG	c.(1069-1071)ggcfs	p.G357fs	LEPRE1_ENST00000236040.4_Frame_Shift_Ins_p.G357fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.G357fs			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	357					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTCACGGGGGCCGATGGATCT	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1071dupG	1.37:g.43223465_43223465dupC	ENSP00000296388:p.Gly357fs	914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Ins	INS	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R359fs	ENST00000296388.5	37	c.1071_1070	CCDS472.2	1																																																																																			LEPRE1	-	NULL		0.535	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	NM_022356		43223464	-1	no_errors	ENST00000236040	ensembl	human	known	70_37	frame_shift_ins	INS	0.023:0.020	C	C	43223464	-	C	43223463	7	5	14	1	0	1	1	0	0	0	0	0	8749	1190	42	0	1202	0	LEPRE1	1	43223463	Frame_Shift_Ins	INS	-	TCGA-C5-A1M5-01A-11D-A13W-08	6850830	43223463	206027158	2	2331										
NGF	4803	genome.wustl.edu	37	chr1	115829246	115829246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gccacgcgtgcagctatcgcCgctgccggggcgctgcgggc	17	16	0	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:115829246C>T	ENST00000369512.2	-	3	339	c.171G>A	c.(169-171)gcG>gcA	p.A57A	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	57					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CAGCTATCGCCGCTGCCGGGG	0.617																																																	0													53	51	52					1																	115829246		2203	4300	6503	SO:0001819	synonymous_variant	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.171G>A	1.37:g.115829246C>T			A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.A57	ENST00000369512.2	37	c.171	CCDS882.1	1																																																																																			NGF	-	pirsf_Nerve_growth_factor-like		0.617	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	C	NM_002506		115829246	-1	no_errors	ENST00000369512	ensembl	human	known	70_37	silent	SNP	0.000	T	T	115829246	C	T	115829246	2	4	14	1	0	0	0	0	0	0	0	1	10419	639	23	2		2	NGF	1	115829246	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	72605783	115829246	133421375	3	2332										
BCAN	63827	genome.wustl.edu	37	chr1	156617459	156617459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	atgtgatgctggctggctgtCggatcagaccgtgaggtggg	18	7	1	3	rs377328649		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:156617459C>T	ENST00000329117.5	+	4	962	c.626C>T	c.(625-627)tCg>tTg	p.S209L	BCAN_ENST00000361588.5_Missense_Mutation_p.S209L|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	209	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTGGCTGTCGGATCAGACC	0.647																																																	0													77	81	80					1																	156617459		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.626C>T	1.37:g.156617459C>T	ENSP00000331210:p.Ser209Leu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.S209L	ENST00000329117.5	37	c.626	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404420	0.83230	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.28	4.28	0.50868	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.229124	0.28187	N	0.016270	T	0.13670	0.0331	L	0.58510	1.815	0.50313	D	0.999863	P;D	0.57257	0.947;0.979	P;P	0.52598	0.453;0.703	T	0.01238	-1.1409	10	0.87932	D	0	-4.6703	15.4434	0.75208	0.0:1.0:0.0:0.0	.	209;209	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	209;209;107;209	ENSP00000331210:S209L;ENSP00000389898:S209L;ENSP00000401709:S107L;ENSP00000354925:S209L	ENSP00000331210:S209L	S	+	2	0	BCAN	154884083	0.366000	0.25014	0.981000	0.43875	0.976000	0.68499	4.729000	0.62008	2.196000	0.70406	0.455000	0.32223	TCG	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	C	NM_021948		156617459	1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	0.963	T	T	156617459	C	T	156617459	3	4	14	1	0	0	0	0	1	0	0	0	1346	893	31	1	636	1	BCAN	1	156617459	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	40788213	156617459	92633162	4	2333										
STX6	10228	genome.wustl.edu	37	chr1	180974431	180974431	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	acaccacagaaaaggatattGatggtttcatcaaggtcctc	8	9	2	2			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:180974431G>C	ENST00000258301.5	-	2	441	c.204C>G	c.(202-204)atC>atG	p.I68M	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	68					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						AAAGGATATTGATGGTTTCAT	0.423																																																	0													175	171	173					1																	180974431		2203	4300	6503	SO:0001630	splice_region_variant	10228			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.205+1C>G	1.37:g.180974431G>C			B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.I68M	ENST00000258301.5	37	c.204	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851236	0.71719	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.57	5.57	0.84162	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.049450	0.85682	D	0.000000	T	0.77837	0.4190	M	0.91249	3.19	0.44635	D	0.997617	D	0.76494	0.999	D	0.79108	0.992	D	0.85581	0.1240	8	0.87932	D	0	-3.97	7.6697	0.28451	0.1997:0.0:0.8003:0.0	.	68	O43752	STX6_HUMAN	M	68	.	ENSP00000258301:I68M	I	-	3	3	STX6	179241054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.659000	0.46741	2.613000	0.88420	0.650000	0.86243	ATC	STX6	-	pfam_Syntaxin-6_N,superfamily_t-SNARE		0.423	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	G	NM_005819	Missense_Mutation	180974431	-1	no_errors	ENST00000258301	ensembl	human	known	70_37	missense	SNP	1.000	C	C	180974431	G	C	180974431	5	2	14	1	0	0	0	0	0	0	1	0	15379	1304	45	1	591	1	STX6	1	180974431	Splice_Site	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	24356972	180974431	68276190	5	2334										
CACNA1E	777	genome.wustl.edu	37	chr1	181745324	181745324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tggggcctcaccacttggacGagtttgtccgcgtctgggca	14	12	2	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:181745324G>A	ENST00000367573.2	+	38	5227	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1743K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1350K|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E1724K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1724K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1675K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1694K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1743	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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						CCACTTGGACGAGTTTGTCCG	0.607																																																	0													134	137	136					1																	181745324		1986	4168	6154	SO:0001583	missense	777			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.5227G>A	1.37:g.181745324G>A	ENSP00000356545:p.Glu1743Lys		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.E1743K	ENST00000367573.2	37	c.5227	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.255682	0.97417	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96716	-3.99;-3.99;-4.1;-3.99;-4.07;-4.09;-4.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.89715	3.055	0.80722	D	1	P;D;D	0.89917	0.937;0.989;1.0	P;D;D	0.79108	0.723;0.941;0.992	D	0.99129	1.0852	10	0.87932	D	0	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1724;1743;1743	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	K	1743;1724;1694;1675;1350;1724;1743	ENSP00000356542:E1743K;ENSP00000434814:E1724K;ENSP00000350183:E1694K;ENSP00000351101:E1675K;ENSP00000356539:E1350K;ENSP00000353222:E1724K;ENSP00000356545:E1743K	ENSP00000350183:E1694K	E	+	1	0	CACNA1E	180011947	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	9.731000	0.98807	2.769000	0.95229	0.655000	0.94253	GAG	CACNA1E	-	pfscan_EF_HAND_2		0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181745324	1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	A	A	181745324	G	A	181745324	3	1	14	1	0	0	0	0	1	0	0	0	2547	1059	37	1	5377	1	CACNA1E	1	181745324	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	770893	181745324	67505297	6	2335										
SUSD4	55061	genome.wustl.edu	37	chr1	223396682	223396682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tccgaagcagggtgggtgctCtcttggcacctgggaggtga	17	9	1	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:223396682C>T	ENST00000343846.3	-	7	1986	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	SUSD4_ENST00000484758.2_Silent_p.E382E|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.E451E|SUSD4_ENST00000454695.2_Silent_p.E291E|SUSD4_ENST00000366878.4_Silent_p.E451E			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	451						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTGGGTGCTCTCTTGGCACC	0.582																																																	0													62	69	67					1																	223396682		2090	4220	6310	SO:0001819	synonymous_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1353G>A	1.37:g.223396682C>T			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E451	ENST00000343846.3	37	c.1353	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330810	0.01298	.	.	ENSG00000143502	ENST00000271787	.	.	.	5.16	0.342	0.15996	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28586	-1.0039	5	0.14252	T	0.57	-11.0703	4.0822	0.09931	0.1751:0.4513:0.0:0.3735	.	.	.	.	K	226	.	ENSP00000271787:R226K	R	-	2	0	SUSD4	221463305	0.000000	0.05858	0.179000	0.23059	0.014000	0.08584	-0.092000	0.11129	0.153000	0.19213	-0.136000	0.14681	AGA	SUSD4	-	NULL		0.582	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223396682	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	silent	SNP	0.037	T	T	223396682	C	T	223396682	2	4	14	1	0	0	0	0	0	0	0	1	15440	912	32	1		1	SUSD4	1	223396682	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	41651358	223396682	25853939	7	2336										
LRRTM1	347730	genome.wustl.edu	37	chr2	80529638	80529638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ccacgatgaggaaggagaagAtgagggccatggtgcccgtg	17	8	0	4			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:80529638A>G	ENST00000295057.3	-	2	1963	c.1307T>C	c.(1306-1308)aTc>aCc	p.I436T	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.I436T|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	436					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAAGGAGAAGATGAGGGCCAT	0.627										HNSCC(69;0.2)																																							0													100	88	92					2																	80529638		2203	4300	6503	SO:0001583	missense	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1307T>C	2.37:g.80529638A>G	ENSP00000295057:p.Ile436Thr		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I436T	ENST00000295057.3	37	c.1307	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461730	0.63513	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.44482	0.92;0.92	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	T	0.47395	0.1443	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	T	0.36720	-0.9736	9	.	.	.	.	15.031	0.71708	1.0:0.0:0.0:0.0	.	436	Q86UE6	LRRT1_HUMAN	T	436	ENSP00000295057:I436T;ENSP00000386646:I436T	.	I	-	2	0	LRRTM1	80383149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.930000	0.55929	0.459000	0.35465	ATC	LRRTM1	-	NULL		0.627	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	A	NM_178839		80529638	-1	no_errors	ENST00000295057	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80529638	A	G	80529638	3	3	14	1	0	0	0	0	1	0	0	0	9062	333	12	5	265	5	LRRTM1	2	80529638	Missense_Mutation	SNP	A	TCGA-C5-A1M5-01A-11D-A13W-08		80529638	162669735	8	2337										
TGOLN2	10618	genome.wustl.edu	37	chr2	85554084	85554084	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ttggaatggtctttccgggaAggctgctctggaaccacctt	12	10	2	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:85554084A>C	ENST00000409232.3	-	2	832	c.771T>G	c.(769-771)ccT>ccG	p.P257P	TGOLN2_ENST00000444342.2_Silent_p.P257P|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000409015.1_Silent_p.P257P|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Silent_p.P257P			O43493	TGON2_HUMAN	trans-golgi network protein 2	257						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTTCCGGGAAGGCTGCTCTG	0.572																																																	0													85	84	85					2																	85554084		1949	4140	6089	SO:0001819	synonymous_variant	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.771T>G	2.37:g.85554084A>C			B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	NULL	p.P257	ENST00000409232.3	37	c.771	CCDS56126.1	2																																																																																			TGOLN2	-	NULL		0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	A	NM_006464		85554084	-1	no_errors	ENST00000377386	ensembl	human	known	70_37	silent	SNP	0.001	C	C	85554084	A	C	85554084	2	2	14	1	0	0	0	0	0	0	0	1	15866	59	3	5		5	TGOLN2	2	85554084	Silent	SNP	A	TCGA-C5-A1M5-01A-11D-A13W-08	5024446	85554084	157645289	9	2338										
IL1A	3552	genome.wustl.edu	37	chr2	113539283	113539283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cttcccgttggttgctactaCcaccatgctctccttgaagg	8	14	1	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:113539283C>T	ENST00000263339.3	-	4	372	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	73					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GTTGCTACTACCACCATGCTC	0.483																																																	0													198	178	185					2																	113539283		2203	4300	6503	SO:0001583	missense	3552			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.217G>A	2.37:g.113539283C>T	ENSP00000263339:p.Val73Ile		Q53QF9|Q7RU02	Missense_Mutation	SNP	pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1	p.V73I	ENST00000263339.3	37	c.217	CCDS2101.1	2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795003	0.31777	.	.	ENSG00000115008	ENST00000263339	T	0.51071	0.72	5.78	-11.6	0.00059	Interleukin-1 propeptide (1);	1.805730	0.02836	N	0.127340	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.07635	-1.0762	10	0.08179	T	0.78	-24.7429	9.4992	0.39006	0.0:0.1638:0.4341:0.4021	.	73	P01583	IL1A_HUMAN	I	73	ENSP00000263339:V73I	ENSP00000263339:V73I	V	-	1	0	IL1A	113255754	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.223000	0.01214	-2.941000	0.00297	-1.799000	0.00621	GTA	IL1A	-	pfam_IL1_propep,prints_InterleukinIL1AB		0.483	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	C	NM_000575		113539283	-1	no_errors	ENST00000263339	ensembl	human	known	70_37	missense	SNP	0.000	T	T	113539283	C	T	113539283	3	4	14	1	0	0	0	0	1	0	0	0	7670	507	18	4	614	4	IL1A	2	113539283	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	27985199	113539283	129660090	10	2339										
MYO7B	4648	genome.wustl.edu	37	chr2	128324316	128324316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tactacagccgccatatgggCgagctgcccccgcatgtctt	10	15	1	0	rs370063306		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:128324316C>T	ENST00000409816.2	+	4	416	c.384C>T	c.(382-384)ggC>ggT	p.G128G	MYO7B_ENST00000389524.4_Silent_p.G128G|MYO7B_ENST00000428314.1_Silent_p.G128G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	128	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G128G(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCATATGGGCGAGCTGCCCC	0.587																																																	2	Substitution - coding silent(2)	lung(2)						C		0,4104		0,0,2052	39	44	42		384	-9	0.5	2		42	1,8401		0,1,4200	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6252	TT,TC,CC		0.0119,0.0,0.0080		128/2117	128324316	1,12505	2052	4201	6253	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.384C>T	2.37:g.128324316C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G128	ENST00000409816.2	37	c.384	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128324316	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.039	T	T	128324316	C	T	128324316	2	4	14	1	0	0	0	0	0	0	0	1	10106	755	27	2		2	MYO7B	2	128324316	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	14785033	128324316	114875057	11	2340										
FKBP7	65977	genome.wustl.edu	37	chr2	179343117	179343117	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctggacgatgcaaaacttctAttttcacttcttcggtgctc	7	11	3	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:179343117A>G	ENST00000234453.5	+	0	0				FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.I37T|FKBP7_ENST00000424785.2_Missense_Mutation_p.I37T	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAAAACTTCTATTTTCACTTC	0.418																																																	0													117	123	121					2																	179343117		2203	4300	6503	SO:0001631	upstream_gene_variant	51661			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343117A>G	Exception_encountered		Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.I37T	ENST00000234453.5	37	c.110	CCDS33336.1	2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409615	0.83340	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.55588	0.51;0.51	5.83	5.83	0.93111	.	0.084247	0.85682	D	0.000000	T	0.61850	0.2380	M	0.64630	1.985	0.80722	D	1	D;B;P	0.59767	0.986;0.383;0.511	P;B;B	0.50970	0.655;0.081;0.187	T	0.65772	-0.6087	10	0.62326	D	0.03	-43.1444	16.1879	0.81964	1.0:0.0:0.0:0.0	.	37;37;37	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	T	37	ENSP00000413152:I37T;ENSP00000415486:I37T	ENSP00000233092:I37T	I	-	2	0	FKBP7	179051363	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.506000	0.90518	2.216000	0.71823	0.459000	0.35465	ATA	FKBP7	-	NULL		0.418	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP7	HGNC	protein_coding	OTTHUMT00000335241.2	A	NM_019091		179343117	-1	no_errors	ENST00000424785	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179343117	A	G	179343117	1	3	14	0	1	0	0	0	0	0	0	0	5931	449	16	5		5	FKBP7	2	179343117	5'Flank	SNP	A	TCGA-C5-A1M5-01A-11D-A13W-08	51018801	179343117	63856256	12	2341										
TTN	7273	genome.wustl.edu	37	chr2	179483051	179483051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gacagtaaactcacaactctCtgcacggtctgtggccagaa	9	12	3	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:179483051C>T	ENST00000591111.1	-	202	42435	c.42211G>A	c.(42211-42213)Gag>Aag	p.E14071K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6839K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13144K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15712K|TTN_ENST00000359218.5_Missense_Mutation_p.E6772K|TTN_ENST00000460472.2_Missense_Mutation_p.E6647K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14071	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACAACTCTCTGCACGGTCT	0.463																																																	0													101	98	99					2																	179483051		1927	4132	6059	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42211G>A	2.37:g.179483051C>T	ENSP00000465570:p.Glu14071Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13144K	ENST00000591111.1	37	c.39430		2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231685	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39911	0.1096	N	0.05306	-0.075	0.46749	D	0.99918	B;B;B;B	0.28713	0.117;0.117;0.117;0.22	B;B;B;B	0.33121	0.044;0.044;0.082;0.158	T	0.44390	-0.9331	9	0.87932	D	0	.	19.982	0.97329	0.0:1.0:0.0:0.0	.	6647;6772;6839;14071	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13144;6647;6839;6772;6647	ENSP00000343764:E13144K;ENSP00000434586:E6647K;ENSP00000340554:E6839K;ENSP00000352154:E6772K	ENSP00000340554:E6839K	E	-	1	0	TTN	179191296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.798000	0.96311	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179483051	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179483051	C	T	179483051	3	4	14	1	0	0	0	0	1	0	0	0	16766	922	32	1	61003	1	TTN	2	179483051	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	139934	179483051	63716322	13	2342										
ITPR1	3708	genome.wustl.edu	37	chr3	4712441	4712441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tttctcgttttgaatttgaaGgtgtctcttccactggagag	10	7	2	3	rs545433196		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:4712441G>T	ENST00000443694.2	+	17	1990	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C	ITPR1_ENST00000456211.2_Missense_Mutation_p.G664C|ITPR1_ENST00000357086.4_Missense_Mutation_p.G679C|ITPR1_ENST00000354582.6_Missense_Mutation_p.G679C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.G664C|ITPR1_ENST00000423119.2_Missense_Mutation_p.G679C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	679					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAATTTGAAGGTGTCTCTTC	0.428																																																	0													75	65	68					3																	4712441		1872	4119	5991	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1990G>T	3.37:g.4712441G>T	ENSP00000401671:p.Gly664Cys		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G664C	ENST00000443694.2	37	c.1990	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435877	0.43224	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91686	-2.88;-2.89;-2.89;-2.89;-2.89;-2.88	5.1	5.1	0.69264	.	0.282242	0.39759	N	0.001263	D	0.88987	0.6587	N	0.08118	0	0.80722	D	1	P;P;D	0.54397	0.523;0.533;0.966	B;B;P	0.52424	0.401;0.285;0.698	D	0.91371	0.5119	10	0.56958	D	0.05	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	664;679;679	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	C	679;664;679;679;679;664;664	ENSP00000306253:G664C;ENSP00000346595:G679C;ENSP00000405934:G679C;ENSP00000349597:G679C;ENSP00000397885:G664C;ENSP00000401671:G664C	ENSP00000306253:G664C	G	+	1	0	ITPR1	4687441	1.000000	0.71417	0.994000	0.49952	0.157000	0.22087	3.849000	0.55910	2.368000	0.80403	0.655000	0.94253	GGT	ITPR1	-	NULL		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4712441	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	0.989	T	T	4712441	G	T	4712441	3	4	14	1	0	0	0	0	1	0	0	0	7940	1000	35	4	2105	4	ITPR1	3	4712441	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		4712441	193309989	14	2343										
RNF123	63891	genome.wustl.edu	37	chr3	49758728	49758728	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	caatacgagtactacctcctCagctgcctagccctcacagc	6	17	2	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:49758728C>A	ENST00000327697.6	+	39	4079	c.3935C>A	c.(3934-3936)tCa>tAa	p.S1312*	RNF123_ENST00000433785.1_Nonsense_Mutation_p.S424*|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1312					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACTACCTCCTCAGCTGCCTAG	0.547																																																	0													215	218	217					3																	49758728		2203	4300	6503	SO:0001587	stop_gained	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3935C>A	3.37:g.49758728C>A	ENSP00000328287:p.Ser1312*		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S1312*	ENST00000327697.6	37	c.3935	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	42	9.545425	0.99201	.	.	ENSG00000164068	ENST00000327697;ENST00000433785	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.33388	D	0.575756	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	16.3865	0.83505	0.0:1.0:0.0:0.0	.	.	.	.	X	1312;424	.	ENSP00000328287:S1312X	S	+	2	0	RNF123	49733732	0.877000	0.30153	0.996000	0.52242	0.531000	0.34715	1.564000	0.36375	2.489000	0.83994	0.655000	0.94253	TCA	RNF123	-	NULL		0.547	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	C	NM_022064		49758728	1	no_errors	ENST00000327697	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	49758728	C	A	49758728	4	1	14	1	0	0	0	0	0	1	0	0	13463	838	29	3	4085	3	RNF123	3	49758728	Nonsense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	45046287	49758728	148263702	15	2344										
CADPS	8618	genome.wustl.edu	37	chr3	62556598	62556598	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctcttccagacattcttaccGatggcccataaatacctaag	5	13	2	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:62556598G>A	ENST00000383710.4	-	9	1942	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	CADPS_ENST00000283269.9_Silent_p.I531I|CADPS_ENST00000357948.3_Silent_p.I531I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	531	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATTCTTACCGATGGCCCATA	0.393																																																	0													143	145	145					3																	62556598		2203	4300	6503	SO:0001819	synonymous_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1593C>T	3.37:g.62556598G>A			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I531	ENST00000383710.4	37	c.1593	CCDS46858.1	3																																																																																			CADPS	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.393	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394		62556598	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62556598	G	A	62556598	2	1	14	1	0	0	0	0	0	0	0	1	2575	1048	37	1		1	CADPS	3	62556598	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	12797870	62556598	135465832	16	2345										
KIAA2018	205717	genome.wustl.edu	37	chr3	113379802	113379802	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	aagcacatttgattcgctttCagaggtgggaagctcgagaa	12	7	1	3			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:113379802C>T	ENST00000478658.1	-	5	744	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	KIAA2018_ENST00000316407.4_Missense_Mutation_p.E243K|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	243						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATTCGCTTTCAGAGGTGGGA	0.478																																																	0													56	55	55					3																	113379802		1928	4138	6066	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.727G>A	3.37:g.113379802C>T	ENSP00000420721:p.Glu243Lys		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E243K	ENST00000478658.1	37	c.727	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001182	0.54254	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17054	2.3;2.3	5.75	5.75	0.90469	.	0.159876	0.44902	D	0.000418	T	0.32376	0.0827	L	0.27053	0.805	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.02917	-1.1094	10	0.54805	T	0.06	-13.3464	19.9235	0.97095	0.0:1.0:0.0:0.0	.	243	Q68DE3	K2018_HUMAN	K	243	ENSP00000320794:E243K;ENSP00000420721:E243K	ENSP00000320794:E243K	E	-	1	0	KIAA2018	114862492	0.971000	0.33674	0.964000	0.40570	0.896000	0.52359	2.340000	0.43974	2.702000	0.92279	0.655000	0.94253	GAA	KIAA2018	-	NULL		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113379802	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	0.998	T	T	113379802	C	T	113379802	3	4	14	1	0	0	0	0	1	0	0	0	8288	835	29	1	6014	1	KIAA2018	3	113379802	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	50823204	113379802	84642628	17	2346										
FXR1	8087	genome.wustl.edu	37	chr3	180666162	180666162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tcattgaatatgctgcttgtGacgctacttacaatgaaata	7	7	1	3			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:180666162G>C	ENST00000357559.4	+	5	682	c.298G>C	c.(298-300)Gac>Cac	p.D100H	FXR1_ENST00000468861.1_Missense_Mutation_p.D15H|FXR1_ENST00000491062.1_Missense_Mutation_p.D51H|FXR1_ENST00000480918.1_Missense_Mutation_p.D87H|FXR1_ENST00000305586.7_Missense_Mutation_p.D15H|FXR1_ENST00000445140.2_Missense_Mutation_p.D100H	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	100	Agenet-like 2.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGCTGCTTGTGACGCTACTTA	0.299																																																	0													45	46	46					3																	180666162		2202	4300	6502	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.298G>C	3.37:g.180666162G>C	ENSP00000350170:p.Asp100His		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.D100H	ENST00000357559.4	37	c.298	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492897	0.84962	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	T;T;T;T;T;T;T;T;T;T;T	0.57107	0.46;0.42;0.46;1.33;1.1;0.7;0.62;0.64;0.45;1.1;0.46	5.83	5.83	0.93111	Agenet (1);	0.043727	0.85682	D	0.000000	T	0.74107	0.3673	M	0.75264	2.295	0.80722	D	1	P;D;D;D;D;P	0.69078	0.942;0.997;0.994;0.987;0.981;0.934	D;D;P;P;D;P	0.71414	0.937;0.973;0.875;0.794;0.945;0.85	T	0.75605	-0.3260	10	0.87932	D	0	-15.9108	20.1195	0.97955	0.0:0.0:1.0:0.0	.	87;51;15;15;100;100	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	H	15;15;15;100;15;51;15;100;15;87;104	ENSP00000419793:D15H;ENSP00000417125:D15H;ENSP00000418724:D15H;ENSP00000350170:D100H;ENSP00000307633:D15H;ENSP00000420643:D51H;ENSP00000420515:D15H;ENSP00000388828:D100H;ENSP00000419933:D15H;ENSP00000418097:D87H;ENSP00000417513:D104H	ENSP00000307633:D15H	D	+	1	0	FXR1	182148856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.971000	0.88012	2.759000	0.94783	0.650000	0.86243	GAC	FXR1	-	pfam_Agenet-like_dom		0.299	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	G			180666162	1	no_errors	ENST00000357559	ensembl	human	known	70_37	missense	SNP	1.000	C	C	180666162	G	C	180666162	3	2	14	1	0	0	0	0	1	0	0	0	6133	1290	45	1	316	1	FXR1	3	180666162	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	67286360	180666162	17356268	18	2347										
SMARCAD1	56916	genome.wustl.edu	37	chr4	95155109	95155109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctaaaaatatttttagttctGagccatctgaagatgaagag	8	5	2	5			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr4:95155109G>A	ENST00000354268.4	+	4	446	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E125K			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	125					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTAGTTCTGAGCCATCTGA	0.343																																																	0													53	54	54					4																	95155109		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.373G>A	4.37:g.95155109G>A	ENSP00000346217:p.Glu125Lys		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E125K	ENST00000354268.4	37	c.373	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688040	0.68271	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15256	2.44;2.44;2.44	5.81	5.81	0.92471	.	0.000000	0.39210	N	0.001438	T	0.28267	0.0698	N	0.24115	0.695	0.80722	D	1	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	T	0.01464	-1.1348	10	0.62326	D	0.03	-17.9725	15.5785	0.76414	0.0:0.0:1.0:0.0	.	125;125	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	K	125	ENSP00000351947:E125K;ENSP00000415576:E125K;ENSP00000346217:E125K	ENSP00000346217:E125K	E	+	1	0	SMARCAD1	95374132	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.715000	0.61909	2.736000	0.93811	0.655000	0.94253	GAG	SMARCAD1	-	NULL		0.343	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	G	NM_020159		95155109	1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95155109	G	A	95155109	3	1	14	1	0	0	0	0	1	0	0	0	14802	1291	45	1	383	1	SMARCAD1	4	95155109	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		95155109	95999167	19	2348										
SLC10A7	84068	genome.wustl.edu	37	chr4	147247123	147247123	+	Frame_Shift_Del	DEL	A	A	-													0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	aaatactcacaaaaagcagcAggagcaggggtgttataacg							TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr4:147247123delA	ENST00000507030.1	-	6	460	c.461delT	c.(460-462)ctgfs	p.L156fs	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Frame_Shift_Del_p.L156fs|SLC10A7_ENST00000432059.2_Frame_Shift_Del_p.L143fs|SLC10A7_ENST00000335472.7_Frame_Shift_Del_p.L156fs			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	156					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAAGCAGCAGGAGCAGGGG	0.333																																																	0													48	49	49					4																	147247123		2203	4300	6503	SO:0001589	frameshift_variant	84068			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.461delT	4.37:g.147247123delA	ENSP00000421275:p.Leu156fs		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Frame_Shift_Del	DEL	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.L154fs	ENST00000507030.1	37	c.461	CCDS34073.1	4																																																																																			SLC10A7	-	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr		0.333	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	A	NM_032128		147247123	-1	no_errors	ENST00000394062	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	147247123	A	-	147247123	7	5	14	1	0	1	0	1	0	0	0	0	14409	188	7	0	589	0	SLC10A7	4	147247123	Frame_Shift_Del	DEL	A	TCGA-C5-A1M5-01A-11D-A13W-08	52092014	147247123	43907153	20	2349										
DNAH5	1767	genome.wustl.edu	37	chr5	13786454	13786454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cagcatcagcctcttcagatGtttcacctttggtgggaaat	9	10	4	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:13786454G>A	ENST00000265104.4	-	52	8758	c.8654C>T	c.(8653-8655)aCa>aTa	p.T2885I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2885					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTTCAGATGTTTCACCTTT	0.353									Kartagener syndrome																																								0													68	69	69					5																	13786454		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8654C>T	5.37:g.13786454G>A	ENSP00000265104:p.Thr2885Ile		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T2885I	ENST00000265104.4	37	c.8654	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714432	0.30413	.	.	ENSG00000039139	ENST00000265104	T	0.23552	1.9	4.72	3.78	0.43462	.	0.369343	0.29451	N	0.012112	T	0.24774	0.0601	L	0.46157	1.445	0.37139	D	0.901633	B	0.17465	0.022	B	0.23275	0.045	T	0.22277	-1.0221	10	0.66056	D	0.02	.	12.8763	0.57991	0.0:0.0:0.7209:0.2791	.	2885	Q8TE73	DYH5_HUMAN	I	2885	ENSP00000265104:T2885I	ENSP00000265104:T2885I	T	-	2	0	DNAH5	13839454	1.000000	0.71417	0.996000	0.52242	0.499000	0.33736	5.464000	0.66719	2.590000	0.87494	0.655000	0.94253	ACA	DNAH5	-	NULL		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13786454	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.995	A	A	13786454	G	A	13786454	3	1	14	1	0	0	0	0	1	0	0	0	4614	1377	48	4	5332	4	DNAH5	5	13786454	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		13786454	167128806	21	2350										
SEMA6A	57556	genome.wustl.edu	37	chr5	115783191	115783192	+	Frame_Shift_Ins	INS	-	-	T													0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	taatgagcatcttggccgtgINSttgccgggagtggcgagctt							TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:115783191_115783192insT	ENST00000343348.6	-	19	2997_2998	c.2210_2211insA	c.(2209-2211)aacfs	p.N737fs	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.N164fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.N754fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.N214fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.N116fs|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.N737fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	737					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTTGGCCGTGTTGCCGGGAGT	0.614																																																	0																																										SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2211dupA	5.37:g.115783193_115783193dupT	ENSP00000345512:p.Asn737fs		Q9P2H9	Frame_Shift_Ins	INS	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.N754fs	ENST00000343348.6	37	c.2262_2261	CCDS47256.1	5																																																																																			SEMA6A	-	NULL		0.614	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	-	NM_020796		115783192	-1	no_errors	ENST00000257414	ensembl	human	known	70_37	frame_shift_ins	INS	0.997:0.990	T	T	115783192	-	T	115783191	7	5	14	1	0	1	1	0	0	0	0	0	14069	1368	48	0	885	0	SEMA6A	5	115783191	Frame_Shift_Ins	INS	-	TCGA-C5-A1M5-01A-11D-A13W-08	101996737	115783191	65132069	22	2351										
PCDHB12	56124	genome.wustl.edu	37	chr5	140590433	140590433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	aggacaatggcgagcctccgCgctcggccaccgccacgctg	13	17	0	0	rs200444693	byFrequency	TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:140590433C>T	ENST00000239450.2	+	1	2143	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R315C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCCTCCGCGCTCGGCCAC	0.731																																																	0													13	16	15					5																	140590433		1999	3896	5895	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1954C>T	5.37:g.140590433C>T	ENSP00000239450:p.Arg652Cys		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R652C	ENST00000239450.2	37	c.1954	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205581	0.39003	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.55234	0.53;0.53	3.77	1.83	0.25207	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68054	0.2959	M	0.82630	2.6	0.39140	D	0.962019	D	0.76494	0.999	D	0.65140	0.932	T	0.70454	-0.4867	9	0.62326	D	0.03	.	8.3125	0.32080	0.1557:0.7529:0.0:0.0914	.	652	Q9Y5F1	PCDBC_HUMAN	C	315;652;272	ENSP00000440199:R315C;ENSP00000239450:R652C	ENSP00000239450:R652C	R	+	1	0	PCDHB12	140570617	0.001000	0.12720	0.775000	0.31657	0.820000	0.46376	1.384000	0.34396	0.677000	0.31305	0.479000	0.44913	CGC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.731	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140590433	1	no_errors	ENST00000239450	ensembl	human	known	70_37	missense	SNP	0.879	T	T	140590433	C	T	140590433	3	4	14	1	0	0	0	0	1	0	0	0	11561	768	27	2	1956	2	PCDHB12	5	140590433	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	24807242	140590433	40324827	23	2352										
ODZ2	57451	genome.wustl.edu	37	chr5	167645602	167645602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tggaaatattcggatcagggCggtcagcaagaacaagcctg	13	8	2	1	rs534289475		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:167645602C>T	ENST00000518659.1	+	23	4745	c.4706C>T	c.(4705-4707)gCg>gTg	p.A1569V	TENM2_ENST00000403607.2_Missense_Mutation_p.A1393V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1330V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1568V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1448V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1569					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGGATCAGGGCGGTCAGCAAG	0.493													.|||	1	0.000199681	0	0	5008	,	,		21728	0		0.001	False		,,,				2504	0																0													162	157	159					5																	167645602		1969	4146	6115	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4706C>T	5.37:g.167645602C>T	ENSP00000429430:p.Ala1569Val		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A1569V	ENST00000518659.1	37	c.4706		5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769971	0.90020	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;T;D;D;D	0.89196	-2.48;0.37;-2.48;-2.48;-2.48	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	M	0.77103	2.36	0.80722	D	1	D;D;D	0.62365	0.991;0.985;0.986	P;P;P	0.55545	0.778;0.604;0.63	D	0.92650	0.6132	10	0.49607	T	0.09	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1568;1569;1330	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1569;1568;1448;1330;1393	ENSP00000429430:A1569V;ENSP00000438635:A1568V;ENSP00000428964:A1448V;ENSP00000427874:A1330V;ENSP00000384905:A1393V	ENSP00000384905:A1393V	A	+	2	0	ODZ2	167578180	1.000000	0.71417	0.977000	0.42913	0.930000	0.56654	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCG	TENM2	-	superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf		0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167645602	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167645602	C	T	167645602	3	4	14	1	0	0	0	0	1	0	0	0	10859	768	27	2	4769	2	ODZ2	5	167645602	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	27055169	167645602	13269658	24	2353										
HMP19	51617	genome.wustl.edu	37	chr5	173491307	173491307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	agttccgggtgccgaaaatcGctgaatttacggtcagtttc	11	9	1	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:173491307G>A	ENST00000303177.3	+	3	464	c.202G>A	c.(202-204)Gct>Act	p.A68T	NSG2_ENST00000521585.1_Missense_Mutation_p.A68T|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		68					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GCCGAAAATCGCTGAATTTAC	0.478																																																	0													74	71	72					5																	173491307		2203	4300	6503	SO:0001583	missense	51617																														ENST00000303177.3:c.202G>A	5.37:g.173491307G>A	ENSP00000307722:p.Ala68Thr		B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.A68T	ENST00000303177.3	37	c.202	CCDS4391.1	5	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806303	0.90623	.	.	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521585;ENST00000521278;ENST00000519717	.	.	.	5.69	5.69	0.88448	.	0.058522	0.64402	D	0.000001	T	0.77903	0.4200	L	0.59436	1.845	0.53005	D	0.999965	D	0.76494	0.999	D	0.77004	0.989	T	0.77493	-0.2567	9	0.62326	D	0.03	-14.1312	20.181	0.98201	0.0:0.0:1.0:0.0	.	68	Q9Y328	NSG2_HUMAN	T	68	.	ENSP00000307722:A68T	A	+	1	0	AC011333.1	173423913	1.000000	0.71417	0.958000	0.39756	0.899000	0.52679	7.105000	0.77031	2.840000	0.97914	0.655000	0.94253	GCT	NSG2	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact		0.478	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMP19	Uniprot_genename	protein_coding	OTTHUMT00000252966.2	G			173491307	1	no_errors	ENST00000303177	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173491307	G	A	173491307	3	1	14	1	0	0	0	0	1	0	0	0	7265	1087	38	2	208	2	HMP19	5	173491307	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	5845705	173491307	7423953	25	2354										
GRM6	2916	genome.wustl.edu	37	chr5	178418890	178418890	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gcctctcgggagatctgaacGaaggcctcaaccccactttc	9	15	3	2	rs367700792		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:178418890G>A	ENST00000517717.1	-	3	737	c.699C>T	c.(697-699)ttC>ttT	p.F233F	GRM6_ENST00000231188.5_Silent_p.F233F|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	233					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGATCTGAACGAAGGCCTCAA	0.622																																																	0								G		0,4406		0,0,2203	67	58	61		699	0.2	1	5		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRM6	NM_000843.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		233/878	178418890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.699C>T	5.37:g.178418890G>A				Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.F233	ENST00000517717.1	37	c.699	CCDS4442.1	5																																																																																			GRM6	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.622	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	G			178418890	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	silent	SNP	1.000	A	A	178418890	G	A	178418890	2	1	14	1	0	0	0	0	0	0	0	1	6821	1049	37	1		1	GRM6	5	178418890	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	4927583	178418890	2496370	26	2355										
DLL1	28514	genome.wustl.edu	37	chr6	170594675	170594675	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	accctggttgcagaaaaggcCcccccagccttcctggcagt	10	16	0	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr6:170594675C>G	ENST00000366756.3	-	6	1177	c.844G>C	c.(844-846)Ggc>Cgc	p.G282R		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	282	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGAAAAGGCCCCCCCAGCCT	0.602																																																	0													45	53	50					6																	170594675		2203	4300	6503	SO:0001583	missense	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.844G>C	6.37:g.170594675C>G	ENSP00000355718:p.Gly282Arg		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.G282R	ENST00000366756.3	37	c.844	CCDS5313.1	6	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762139	0.89932	.	.	ENSG00000198719	ENST00000366756	T	0.14516	2.5	5.08	5.08	0.68730	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71968	-0.4432	10	0.87932	D	0	.	18.4705	0.90773	0.0:1.0:0.0:0.0	.	282	O00548	DLL1_HUMAN	R	282	ENSP00000355718:G282R	ENSP00000355718:G282R	G	-	1	0	DLL1	170436600	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.755000	0.85180	2.376000	0.81061	0.563000	0.77884	GGC	DLL1	-	smart_EG-like_dom		0.602	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	C			170594675	-1	no_errors	ENST00000366756	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170594675	C	G	170594675	3	3	14	1	0	0	0	0	1	0	0	0	4576	623	22	4	1351	4	DLL1	6	170594675	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		170594675	520392	27	2356										
DGKB	1607	genome.wustl.edu	37	chr7	14758207	14758207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cttcctctttcaagcagagaCaggtaacagacaatgtcctt	7	11	2	2			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:14758207C>T	ENST00000403951.2	-	6	845	c.426G>A	c.(424-426)ctG>ctA	p.L142L	DGKB_ENST00000407950.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L142L|DGKB_ENST00000444700.2_Silent_p.L135L|DGKB_ENST00000402815.1_Silent_p.L142L|DGKB_ENST00000258767.5_Silent_p.L142L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.L142L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	142					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CAAGCAGAGACAGGTAACAGA	0.448																																																	0													100	95	96					7																	14758207		1895	4122	6017	SO:0001819	synonymous_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.426G>A	7.37:g.14758207C>T			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L142	ENST00000403951.2	37	c.426	CCDS47547.1	7																																																																																			DGKB	-	NULL		0.448	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	C	NM_004080		14758207	-1	no_errors	ENST00000258767	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14758207	C	T	14758207	2	4	14	1	0	0	0	0	0	0	0	1	4476	465	17	4		4	DGKB	7	14758207	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		14758207	144380456	28	2357										
MUC17	140453	genome.wustl.edu	37	chr7	100675495	100675495	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gctgaaggtcccagcctgtcAaactcagctcctagtggagg	12	12	2	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:100675495A>G	ENST00000306151.4	+	3	862	c.798A>G	c.(796-798)tcA>tcG	p.S266S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	266	59 X approximate tandem repeats.|Ser-rich.				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)			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)					CCAGCCTGTCAAACTCAGCTC	0.498																																																	0													143	143	143					7																	100675495		2203	4300	6503	SO:0001819	synonymous_variant	140453			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.798A>G	7.37:g.100675495A>G			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S266	ENST00000306151.4	37	c.798	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	A	NM_001040105		100675495	1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.003	G	G	100675495	A	G	100675495	2	3	14	1	0	0	0	0	0	0	0	1	9997	117	5	5		5	MUC17	7	100675495	Silent	SNP	A	TCGA-C5-A1M5-01A-11D-A13W-08	85917288	100675495	58463168	29	2358										
TRPV6	55503	genome.wustl.edu	37	chr7	142569581	142569581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cactgctgcgggaggtacttCgagacactgagggcatagga	15	9	0	2	rs150837047		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:142569581C>T	ENST00000359396.3	-	15	2302	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	686					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGAGGTACTTCGAGACACTGA	0.587																																																	0													69	70	69					7																	142569581		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2057G>A	7.37:g.142569581C>T	ENSP00000352358:p.Arg686Gln		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.R686Q	ENST00000359396.3	37	c.2057	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567566	0.86439	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.49720	0.77	5.41	5.41	0.78517	.	0.800711	0.11053	N	0.604861	T	0.68869	0.3048	M	0.71206	2.165	0.36609	D	0.875124	D	0.89917	1.0	D	0.68943	0.961	T	0.69022	-0.5255	10	0.48119	T	0.1	-6.1798	16.3396	0.83078	0.0:1.0:0.0:0.0	.	686	Q9H1D0	TRPV6_HUMAN	Q	686;518	ENSP00000352358:R686Q	ENSP00000310825:R518Q	R	-	2	0	TRPV6	142279703	0.976000	0.34144	0.992000	0.48379	0.855000	0.48748	2.493000	0.45320	2.542000	0.85734	0.561000	0.74099	CGA	TRPV6	-	tigrfam_TRP_channel		0.587	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	C	NM_014274		142569581	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	missense	SNP	0.995	T	T	142569581	C	T	142569581	3	4	14	1	0	0	0	0	1	0	0	0	16631	884	31	1	124	1	TRPV6	7	142569581	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	41894086	142569581	16569082	30	2359										
TTPA	7274	genome.wustl.edu	37	chr8	63976819	63976819	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	atcatggaaaagacagcatgGaaaattactggttcatttat	8	5	2	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr8:63976819G>A	ENST00000260116.4	-	4	640	c.609C>T	c.(607-609)ttC>ttT	p.F203F	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	203	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AGACAGCATGGAAAATTACTG	0.308																																																	0													79	79	79					8																	63976819		2203	4300	6503	SO:0001819	synonymous_variant	7274			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.609C>T	8.37:g.63976819G>A			Q71V64	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.F203	ENST00000260116.4	37	c.609	CCDS6178.1	8																																																																																			TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.308	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	G	NM_000370		63976819	-1	no_errors	ENST00000260116	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63976819	G	A	63976819	2	1	14	1	0	0	0	0	0	0	0	1	16767	1165	41	1		1	TTPA	8	63976819	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		63976819	82387203	31	2360										
TG	7038	genome.wustl.edu	37	chr8	134108511	134108511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gatcgatggccacttcctccGtgagcctccagccagagcac	10	16	0	2	rs143135039		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr8:134108511G>A	ENST00000220616.4	+	43	7506	c.7466G>A	c.(7465-7467)cGt>cAt	p.R2489H	SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.R622H|TG_ENST00000377869.1_Missense_Mutation_p.R2432H|SLA_ENST00000338087.5_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.R859H|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2489					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACTTCCTCCGTGAGCCTCCA	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		19663	0		0	False		,,,				2504	0																0								G	,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	161	154	156		,,7466	-4.4	0	8	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,probably-damaging	,,2489/2769	134108511	2,13004	2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7466G>A	8.37:g.134108511G>A	ENSP00000220616:p.Arg2489His		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R2489H	ENST00000220616.4	37	c.7466	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900869	0.33535	2.27E-4	1.16E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.46	-4.36	0.03645	Carboxylesterase, type B (1);	0.467714	0.20117	N	0.098900	T	0.63827	0.2544	M	0.64567	1.98	0.28088	N	0.931916	D;P;D	0.61080	0.989;0.571;0.989	P;B;P	0.56398	0.704;0.101;0.797	T	0.58651	-0.7599	10	0.72032	D	0.01	.	1.5317	0.02537	0.3788:0.2327:0.27:0.1185	.	622;859;2489	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2432;1295;2489;859;622	ENSP00000367100:R2432H;ENSP00000220616:R2489H;ENSP00000441693:R859H;ENSP00000430430:R622H	ENSP00000220616:R2489H	R	+	2	0	TG	134177693	0.000000	0.05858	0.004000	0.12327	0.056000	0.15407	-0.924000	0.03996	-0.538000	0.06281	-0.768000	0.03414	CGT	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		134108511	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.001	A	A	134108511	G	A	134108511	3	1	14	1	0	0	0	0	1	0	0	0	15843	1145	40	2	7636	2	TG	8	134108511	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	70131692	134108511	12255511	32	2361										
RUSC2	9853	genome.wustl.edu	37	chr9	35560823	35560823	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tctttggctcccgaaaagccCagcgggaggcccggcccaca	12	16	1	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr9:35560823C>T	ENST00000455600.1	+	10	4755	c.4186C>T	c.(4186-4188)Cag>Tag	p.Q1396*	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1396						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGAAAAGCCCAGCGGGAGGC	0.642																																																	0													15	15	15					9																	35560823		2201	4292	6493	SO:0001587	stop_gained	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4186C>T	9.37:g.35560823C>T	ENSP00000393922:p.Gln1396*		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Nonsense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.Q1396*	ENST00000455600.1	37	c.4186	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.546544	0.98352	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	.	.	.	5.24	4.33	0.51752	.	0.330721	0.32970	N	0.005432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-5.0403	14.1906	0.65635	0.1508:0.8492:0.0:0.0	.	.	.	.	X	1396	.	ENSP00000355177:Q1396X	Q	+	1	0	RUSC2	35550823	0.977000	0.34250	0.973000	0.42090	0.631000	0.37964	3.116000	0.50399	1.182000	0.42928	0.655000	0.94253	CAG	RUSC2	-	NULL		0.642	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	C	XM_048462		35560823	1	no_errors	ENST00000361226	ensembl	human	known	70_37	nonsense	SNP	0.068	T	T	35560823	C	T	35560823	4	4	14	1	0	0	0	0	0	1	0	0	13781	595	21	4	4220	4	RUSC2	9	35560823	Nonsense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		35560823	105652608	33	2362										
KIAA1958	158405	genome.wustl.edu	37	chr9	115336810	115336810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctgtttgacatggtttgtgaGtcttctgttacagatgagga	12	5	2	4			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr9:115336810G>T	ENST00000337530.6	+	2	746	c.450G>T	c.(448-450)gaG>gaT	p.E150D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E150D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E150D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	150										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGGTTTGTGAGTCTTCTGTTA	0.458																																																	0													165	162	163					9																	115336810		2203	4300	6503	SO:0001583	missense	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.450G>T	9.37:g.115336810G>T	ENSP00000336940:p.Glu150Asp		B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.E150D	ENST00000337530.6	37	c.450	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156501	0.57259	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.44083	0.93;0.93;0.93	6.07	1.15	0.20763	.	0.000000	0.64402	D	0.000001	T	0.44891	0.1315	N	0.24115	0.695	0.43448	D	0.995632	D;D	0.69078	0.997;0.984	D;D	0.72625	0.978;0.956	T	0.28870	-1.0030	10	0.51188	T	0.08	-13.2038	10.2293	0.43245	0.3197:0.0:0.6803:0.0	.	150;150	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	150	ENSP00000336940:E150D;ENSP00000363362:E150D;ENSP00000440504:E150D	ENSP00000336940:E150D	E	+	3	2	KIAA1958	114376631	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.371000	0.34250	0.157000	0.19338	0.655000	0.94253	GAG	KIAA1958	-	NULL		0.458	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	G	NM_133465		115336810	1	no_errors	ENST00000536272	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115336810	G	T	115336810	3	4	14	1	0	0	0	0	1	0	0	0	8284	1020	36	4	452	4	KIAA1958	9	115336810	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	79775987	115336810	25876621	34	2363										
RASGEF1A	221002	genome.wustl.edu	37	chr10	43692548	43692548	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctggagatctcccagaatttCtgaagggagcaaaaccaact	9	10	2	3			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr10:43692548C>T	ENST00000395809.1	-	11	3731		c.e11-1		RASGEF1A_ENST00000374459.1_Splice_Site|RASGEF1A_ENST00000395810.1_Splice_Site			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A						cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCCAGAATTTCTGAAGGGAGC	0.498																																																	0													137	126	130					10																	43692548		2203	4300	6503	SO:0001630	splice_region_variant	221002			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1225-1G>A	10.37:g.43692548C>T			Q8TBF1	Splice_Site	SNP	-	e10-1	ENST00000395809.1	37	c.1225-1	CCDS7202.2	10	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201728	0.79015	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2083	0.89861	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGEF1A	43012554	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.312000	0.78968	2.358000	0.79984	0.655000	0.94253	.	RASGEF1A	-	-		0.498	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	C	NM_145313	Intron	43692548	-1	no_errors	ENST00000395809	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	43692548	C	T	43692548	5	4	14	1	0	0	0	0	0	0	1	0	13099	927	32	1	233	1	RASGEF1A	10	43692548	Splice_Site	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		43692548	91842199	35	2364										
DCHS1	8642	genome.wustl.edu	37	chr11	6651131	6651131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gcggtccaacggccgcaccaCggacagcgctcctaggtgag	14	15	0	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr11:6651131C>T	ENST00000299441.3	-	11	5218	c.4807G>A	c.(4807-4809)Gtg>Atg	p.V1603M	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1603	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCGCACCACGGACAGCGCT	0.652																																																	0													39	39	39					11																	6651131		2200	4295	6495	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4807G>A	11.37:g.6651131C>T	ENSP00000299441:p.Val1603Met		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V1603M	ENST00000299441.3	37	c.4807	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165197	0.38217	.	.	ENSG00000166341	ENST00000299441	T	0.01787	4.64	4.95	3.01	0.34805	Cadherin (4);Cadherin-like (1);	0.161261	0.28983	N	0.013508	T	0.05914	0.0154	M	0.83384	2.64	0.37530	D	0.91786	D	0.60575	0.988	P	0.54100	0.742	T	0.10917	-1.0609	10	0.59425	D	0.04	.	6.1746	0.20437	0.0:0.6398:0.1495:0.2107	.	1603	Q96JQ0	PCD16_HUMAN	M	1603	ENSP00000299441:V1603M	ENSP00000299441:V1603M	V	-	1	0	DCHS1	6607707	0.211000	0.23529	0.996000	0.52242	0.031000	0.12232	0.721000	0.25911	1.295000	0.44724	0.563000	0.77884	GTG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.652	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6651131	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	0.658	T	T	6651131	C	T	6651131	3	4	14	1	0	0	0	0	1	0	0	0	4292	536	19	2	5133	2	DCHS1	11	6651131	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		6651131	128355385	36	2365										
MARK2	2011	genome.wustl.edu	37	chr11	63670179	63670179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cgggagtcagggcggaaagcCagcagcacagccaaggtgcc	16	12	1	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr11:63670179C>T	ENST00000509502.2	+	13	1702	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	MARK2_ENST00000361128.5_Silent_p.A447A|MARK2_ENST00000513765.2_Silent_p.A414A|MARK2_ENST00000315032.8_Silent_p.A447A|MARK2_ENST00000402010.2_Silent_p.A447A|MARK2_ENST00000425897.2_Silent_p.A413A|MARK2_ENST00000377809.4_Silent_p.A447A|MARK2_ENST00000408948.3_Silent_p.A413A|MARK2_ENST00000502399.3_Silent_p.A446A|MARK2_ENST00000350490.7_Silent_p.A446A|MARK2_ENST00000377810.3_Silent_p.A413A|MARK2_ENST00000508192.1_Silent_p.A446A|MARK2_ENST00000413835.2_Silent_p.A447A	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCGGAAAGCCAGCAGCACAG	0.612																																																	0													46	48	47					11																	63670179		2201	4297	6498	SO:0001819	synonymous_variant	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1239C>T	11.37:g.63670179C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A447	ENST00000509502.2	37	c.1341	CCDS41665.1	11																																																																																			MARK2	-	NULL		0.612	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	C	NM_017490		63670179	1	no_errors	ENST00000402010	ensembl	human	known	70_37	silent	SNP	1.000	T	T	63670179	C	T	63670179	2	4	14	1	0	0	0	0	0	0	0	1	9336	581	21	4		4	MARK2	11	63670179	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	57019048	63670179	71336337	37	2366										
FAM186B	84070	genome.wustl.edu	37	chr12	49994424	49994424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cctggggagtcaacagaaacCtcagccaggtcttctgcctg	11	13	4	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr12:49994424C>T	ENST00000257894.2	-	4	1160	c.999G>A	c.(997-999)gaG>gaA	p.E333E	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Silent_p.E243E|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	333						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAACAGAAACCTCAGCCAGGT	0.537																																																	0													144	137	139					12																	49994424		2203	4300	6503	SO:0001819	synonymous_variant	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.999G>A	12.37:g.49994424C>T			B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	NULL	p.E333	ENST00000257894.2	37	c.999	CCDS8788.1	12																																																																																			FAM186B	-	NULL		0.537	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	HGNC	protein_coding	OTTHUMT00000394583.2	C	NM_032130		49994424	-1	no_errors	ENST00000257894	ensembl	human	known	70_37	silent	SNP	0.027	T	T	49994424	C	T	49994424	2	4	14	1	0	0	0	0	0	0	0	1	5527	680	24	4		4	FAM186B	12	49994424	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		49994424	83857471	38	2367										
SMARCC2	6601	genome.wustl.edu	37	chr12	56575341	56575341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gcttcctcttcttatagtttCcccccttcttgtcccgtcga	5	16	3	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr12:56575341C>A	ENST00000267064.4	-	10	967	c.881G>T	c.(880-882)gGa>gTa	p.G294V	SMARCC2_ENST00000347471.4_Missense_Mutation_p.G294V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G294V|SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000394023.3_Missense_Mutation_p.G294V|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	294					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTTATAGTTTCCCCCCTTCTT	0.512																																																	0													102	98	100					12																	56575341		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.881G>T	12.37:g.56575341C>A	ENSP00000267064:p.Gly294Val		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.G294V	ENST00000267064.4	37	c.881	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343317	0.41498	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.44881	0.91;0.92;0.91	4.19	4.19	0.49359	.	0.295374	0.31279	N	0.007939	T	0.29817	0.0745	N	0.12569	0.235	0.58432	D	0.999997	P;P;P;P;P	0.52061	0.845;0.95;0.917;0.917;0.904	B;P;B;B;P	0.46718	0.326;0.525;0.326;0.326;0.525	T	0.03840	-1.0999	10	0.38643	T	0.18	-16.6451	12.3096	0.54922	0.0:0.828:0.1719:0.0	.	183;294;299;294;294	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	294	ENSP00000449396:G294V;ENSP00000302919:G294V;ENSP00000267064:G294V	ENSP00000267064:G294V	G	-	2	0	SMARCC2	54861608	0.518000	0.26234	0.998000	0.56505	0.982000	0.71751	2.814000	0.48010	2.620000	0.88729	0.561000	0.74099	GGA	SMARCC2	-	superfamily_Chromodomain-like		0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56575341	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56575341	C	A	56575341	3	1	14	1	0	0	0	0	1	0	0	0	14806	855	30	3	2936	3	SMARCC2	12	56575341	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	6580917	56575341	77276554	39	2368										
OSBPL8	114882	genome.wustl.edu	37	chr12	76778126	76778126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cagatattggtggatgatggGacacctattaaacataagaa	10	5	0	3	rs549365342		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr12:76778126G>A	ENST00000261183.3	-	15	2017	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S471F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S471F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	513					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGGATGATGGGACACCTATTA	0.289																																																	0													80	70	74					12																	76778126		2203	4300	6503	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1538C>T	12.37:g.76778126G>A	ENSP00000261183:p.Ser513Phe		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S513F	ENST00000261183.3	37	c.1538	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	30	5.052452	0.93793	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.81	5.81	0.92471	Oxysterol-binding protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90088	0.4175	10	0.87932	D	0	-7.8749	20.0833	0.97789	0.0:0.0:1.0:0.0	.	488;513	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	F	471;513;498;471;513;513;488	ENSP00000376939:S471F;ENSP00000261183:S513F;ENSP00000376940:S471F;ENSP00000450238:S513F;ENSP00000447893:S488F	ENSP00000261183:S513F	S	-	2	0	OSBPL8	75302257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	TCC	OSBPL8	-	pfam_Oxysterol-bd		0.289	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	G	NM_020841		76778126	-1	no_errors	ENST00000261183	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76778126	G	A	76778126	3	1	14	1	0	0	0	0	1	0	0	0	11307	1174	41	1	1171	1	OSBPL8	12	76778126	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	20202785	76778126	57073769	40	2369										
GSX1	219409	genome.wustl.edu	37	chr13	28367727	28367727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cagctctaaccagctgcccaGcagcaagaggatgcgcacgg	12	14	1	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr13:28367727G>A	ENST00000302945.2	+	2	485	c.437G>A	c.(436-438)aGc>aAc	p.S146N		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	146					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAGCTGCCCAGCAGCAAGAGG	0.597																																																	0													64	61	62					13																	28367727		2203	4300	6503	SO:0001583	missense	219409			AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.437G>A	13.37:g.28367727G>A	ENSP00000304331:p.Ser146Asn		Q9UD62	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S146N	ENST00000302945.2	37	c.437	CCDS9326.1	13	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011838	0.35511	.	.	ENSG00000169840	ENST00000302945	D	0.95756	-3.8	4.86	4.86	0.63082	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94202	0.8139	L	0.37897	1.145	0.80722	D	1	D	0.58268	0.982	P	0.51657	0.676	D	0.92546	0.6046	10	0.18710	T	0.47	.	17.5873	0.87986	0.0:0.0:1.0:0.0	.	146	Q9H4S2	GSX1_HUMAN	N	146	ENSP00000304331:S146N	ENSP00000304331:S146N	S	+	2	0	GSX1	27265727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.818000	0.62657	2.250000	0.74265	0.561000	0.74099	AGC	GSX1	-	superfamily_Homeodomain-like,pfscan_Homeodomain		0.597	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX1	HGNC	protein_coding	OTTHUMT00000044309.2	G	NM_145657		28367727	1	no_errors	ENST00000302945	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28367727	G	A	28367727	3	1	14	1	0	0	0	0	1	0	0	0	6869	971	34	4	443	4	GSX1	13	28367727	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		28367727	86802151	41	2370										
DCLK1	9201	genome.wustl.edu	37	chr13	36396959	36396959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ttgtacagcatcccactggcGtctctctcggtgtatttgtt	9	11	2	0	rs201558028		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr13:36396959G>A	ENST00000360631.3	-	11	1672	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	DCLK1_ENST00000379893.1_Silent_p.D180D|DCLK1_ENST00000255448.4_Silent_p.D487D			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCACTGGCGTCTCTCTCGG	0.507													G|||	1	0.000199681	0	0	5008	,	,		16405	0		0.001	False		,,,				2504	0																0								G	,,	0,4406		0,0,2203	211	181	191		540,540,1461	-4.9	0.9	13		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	180/423,180/434,487/730	36396959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1461C>T	13.37:g.36396959G>A			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.D487	ENST00000360631.3	37	c.1461		13																																																																																			DCLK1	-	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		0.507	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	G	NM_004734		36396959	-1	no_errors	ENST00000360631	ensembl	human	known	70_37	silent	SNP	0.961	A	A	36396959	G	A	36396959	2	1	14	1	0	0	0	0	0	0	0	1	4296	1136	40	2		2	DCLK1	13	36396959	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	8029232	36396959	78772919	42	2371										
PML	5371	genome.wustl.edu	37	chr15	74315539	74315539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gcctggatgctgtgctgcagCgcatccgcacgggcagcgcg	16	14	0	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr15:74315539C>T	ENST00000268058.3	+	3	1069	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	PML_ENST00000569477.1_Missense_Mutation_p.R325C|PML_ENST00000435786.2_Missense_Mutation_p.R325C|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.R325C|PML_ENST00000567543.1_Missense_Mutation_p.R325C|PML_ENST00000395132.2_Missense_Mutation_p.R325C|PML_ENST00000354026.6_Missense_Mutation_p.R325C|PML_ENST00000268059.6_Missense_Mutation_p.R325C|PML_ENST00000563500.1_Missense_Mutation_p.R325C|PML_ENST00000359928.4_Missense_Mutation_p.R325C|PML_ENST00000564428.1_Missense_Mutation_p.R325C|PML_ENST00000565898.1_Missense_Mutation_p.R325C|PML_ENST00000436891.3_Missense_Mutation_p.R325C|PML_ENST00000569965.1_Missense_Mutation_p.R325C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	325					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGTGCTGCAGCGCATCCGCAC	0.692			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													19	23	22					15																	74315539		2191	4283	6474	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.973C>T	15.37:g.74315539C>T	ENSP00000268058:p.Arg325Cys		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R325C	ENST00000268058.3	37	c.973	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993699	0.74703	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.50001	0.76	5.06	4.08	0.47627	.	0.096407	0.41294	D	0.000919	T	0.63200	0.2491	M	0.68593	2.085	0.48395	D	0.999643	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.999;1.0;0.831;1.0;1.0;0.998;1.0;1.0;0.999;0.999	T	0.64812	-0.6319	10	0.59425	D	0.04	-43.4978	10.0394	0.42148	0.2873:0.7127:0.0:0.0	.	325;275;325;325;325;325;325;325;325;325;325;325;328	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	C	325	ENSP00000268058:R325C	ENSP00000268058:R325C	R	+	1	0	PML	72102592	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.044000	0.30329	2.350000	0.79820	0.462000	0.41574	CGC	PML	-	pfam_DUF3583		0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	C	NM_002675		74315539	1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74315539	C	T	74315539	3	4	14	1	0	0	0	0	1	0	0	0	12159	768	27	2	983	2	PML	15	74315539	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		74315539	28215853	43	2372										
C15orf42	90381	genome.wustl.edu	37	chr15	90162963	90162963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	aagtctgagacgaagtcctcGaatcaagcagttgtcattta	9	8	3	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr15:90162963G>A	ENST00000268138.7	+	18	3149	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	TICRR_ENST00000560985.1_Missense_Mutation_p.R1014Q|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1015					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R1015Q(1)									CGAAGTCCTCGAATCAAGCAG	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											138	131	133					15																	90162963		1925	4140	6065	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3044G>A	15.37:g.90162963G>A	ENSP00000268138:p.Arg1015Gln		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.R1015Q	ENST00000268138.7	37	c.3044	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	34	5.371476	0.95923	.	.	ENSG00000140534	ENST00000268138	T	0.24538	1.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51631	-0.8681	10	0.56958	D	0.05	-11.8653	19.1612	0.93533	0.0:0.0:1.0:0.0	.	1015	Q7Z2Z1	TICRR_HUMAN	Q	1015	ENSP00000268138:R1015Q	ENSP00000268138:R1015Q	R	+	2	0	C15orf42	87963967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.881000	0.75584	2.748000	0.94277	0.655000	0.94253	CGA	TICRR	-	NULL		0.433	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	G	NM_152259		90162963	1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90162963	G	A	90162963	3	1	14	1	0	0	0	0	1	0	0	0	1800	1058	37	1	3114	1	C15orf42	15	90162963	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	15847424	90162963	12368429	44	2373										
CACNG3	10368	genome.wustl.edu	37	chr16	24358139	24358139	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cacagccgaatatctcctgcGtaagttccccggcttctcgg	9	15	2	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr16:24358139G>A	ENST00000005284.3	+	2	1497		c.e2+1			NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3						calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TATCTCCTGCGTAAGTTCCCC	0.552																																																	0													68	62	64					16																	24358139		2197	4300	6497	SO:0001630	splice_region_variant	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.295+1G>A	16.37:g.24358139G>A				Splice_Site	SNP	-	e2+1	ENST00000005284.3	37	c.295+1	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896411	0.91962	.	.	ENSG00000006116	ENST00000005284	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNG3	24265640	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.355000	0.97087	2.808000	0.96608	0.655000	0.94253	.	CACNG3	-	-		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	G	NM_006539	Intron	24358139	1	no_errors	ENST00000005284	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	24358139	G	A	24358139	5	1	14	1	0	0	0	0	0	0	1	0	2563	1159	40	2	302	2	CACNG3	16	24358139	Splice_Site	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		24358139	65996614	45	2374										
SRCAP	10847	genome.wustl.edu	37	chr16	30748554	30748554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ggggactcgtgtcagtgagcGtcttcgtggagcccgggctg	18	10	2	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr16:30748554G>A	ENST00000262518.4	+	34	7578	c.7193G>A	c.(7192-7194)cGt>cAt	p.R2398H	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2336H|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2240H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2398					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCAGTGAGCGTCTTCGTGGA	0.632																																																	0													63	64	63					16																	30748554		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7193G>A	16.37:g.30748554G>A	ENSP00000262518:p.Arg2398His		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R2398H	ENST00000262518.4	37	c.7193	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736318	0.49045	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94046	-3.19;-3.27;-3.34	4.54	4.54	0.55810	.	0.378703	0.18347	N	0.143987	D	0.92506	0.7620	N	0.08118	0	0.26732	N	0.970573	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.87674	0.2543	10	0.66056	D	0.02	-0.2577	16.2841	0.82710	0.0:0.0:1.0:0.0	.	2336;2398	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	H	2398;2336;2240	ENSP00000262518:R2398H;ENSP00000378499:R2336H;ENSP00000343042:R2240H	ENSP00000262518:R2398H	R	+	2	0	SRCAP	30656055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	2.363000	0.80096	0.558000	0.71614	CGT	SRCAP	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30748554	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30748554	G	A	30748554	3	1	14	1	0	0	0	0	1	0	0	0	15165	1145	40	2	7319	2	SRCAP	16	30748554	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	6390415	30748554	59606199	46	2375										
ABCA8	10351	genome.wustl.edu	37	chr17	66887638	66887638	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	actcattattaccttataatCatcgatgctgctcatggcaa	5	10	3	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr17:66887638C>A	ENST00000269080.2	-	22	3153	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1046Y|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1046Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1006					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTTATAATCATCGATGCTG	0.353																																																	0													106	94	98					17																	66887638		2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3016G>T	17.37:g.66887638C>A	ENSP00000269080:p.Asp1006Tyr		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1046Y	ENST00000269080.2	37	c.3136	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859565	0.71834	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87729	-2.29;-2.29	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000057	D	0.94122	0.8115	M	0.86651	2.83	0.49798	D	0.999826	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.999	D	0.94819	0.7985	10	0.87932	D	0	.	16.0763	0.80971	0.0:1.0:0.0:0.0	.	985;1046;1046;1006	F5H6Z4;A1L3U3;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	Y	1006;1046;985	ENSP00000269080:D1006Y;ENSP00000402814:D1046Y	ENSP00000269080:D1006Y	D	-	1	0	ABCA8	64399233	0.977000	0.34250	0.787000	0.31911	0.978000	0.69477	4.366000	0.59492	2.648000	0.89879	0.650000	0.86243	GAT	ABCA8	-	NULL		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	C	NM_007168		66887638	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	missense	SNP	0.898	A	A	66887638	C	A	66887638	3	1	14	1	0	0	0	0	1	0	0	0	38	826	29	3	1797	3	ABCA8	17	66887638	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		66887638	14307572	47	2376										
PLIN4	729359	genome.wustl.edu	37	chr19	4511413	4511413	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cctgttgcgatattttgggtCgttttcagcccagtttgcac	10	10	1	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:4511413C>T	ENST00000301286.3	-	3	2516	c.2517G>A	c.(2515-2517)acG>acA	p.T839T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	839	27 X 33 AA approximate tandem repeat.			GLKTTQNIA -> SVDTTKTVL (in Ref. 2; BAB67774). {ECO:0000305}.		cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TATTTTGGGTCGTTTTCAGCC	0.607																																																	0													74	88	83					19																	4511413		1925	4174	6099	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2517G>A	19.37:g.4511413C>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.T839	ENST00000301286.3	37	c.2517	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4511413	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.005	T	T	4511413	C	T	4511413	2	4	14	1	0	0	0	0	0	0	0	1	12116	871	31	1		1	PLIN4	19	4511413	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08		4511413	54617570	48	2377										
MUC16	94025	genome.wustl.edu	37	chr19	9076980	9076980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	caagccctattgaaggagatGtgacagatgacgcagagctt	12	8	0	6			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:9076980G>A	ENST00000397910.4	-	3	10669	c.10466C>T	c.(10465-10467)aCa>aTa	p.T3489I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3490	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGAGATGTGACAGATGA	0.502																																																	0													119	114	116					19																	9076980		2092	4212	6304	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10466C>T	19.37:g.9076980G>A	ENSP00000381008:p.Thr3489Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T3489I	ENST00000397910.4	37	c.10466	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.978	-0.007021	0.07773	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.13	-0.248	0.13015	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.17979	0.02	T	0.42766	-0.9432	8	0.87932	D	0	.	4.2896	0.10872	0.4112:0.0:0.5888:0.0	.	3489	B5ME49	.	I	3489	ENSP00000381008:T3489I	ENSP00000381008:T3489I	T	-	2	0	MUC16	8937980	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	0.254000	0.18314	-0.007000	0.14345	0.313000	0.20887	ACA	MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9076980	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9076980	G	A	9076980	3	1	14	1	0	0	0	0	1	0	0	0	9996	1377	48	4	33385	4	MUC16	19	9076980	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	4565567	9076980	50052003	49	2378										
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56701805	56701805	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ttgcttcttttgggactgctCagattcagagcatctcctct	8	11	5	2			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:56701805C>G	ENST00000586855.2	-	5	1192	c.879G>C	c.(877-879)ctG>ctC	p.L293L	ZSCAN5B_ENST00000358992.3_Silent_p.L293L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGGACTGCTCAGATTCAGAG	0.527																																																	0													171	166	168					19																	56701805		2203	4300	6503	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.879G>C	19.37:g.56701805C>G				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L293	ENST00000586855.2	37	c.879	CCDS46203.1	19																																																																																			ZSCAN5B	-	NULL		0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56701805	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	silent	SNP	0.003	G	G	56701805	C	G	56701805	2	3	14	1	0	0	0	0	0	0	0	1	18269	813	29	1		1	ZSCAN5B	19	56701805	Silent	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	47624825	56701805	2427178	50	2379										
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56703294	56703294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tggcctgtccccggatgcatCtggttcacagaggaggccca	13	13	2	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:56703294C>G	ENST00000586855.2	-	3	826	c.513G>C	c.(511-513)caG>caC	p.Q171H	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q171H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	171					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCGGATGCATCTGGTTCACAG	0.612																																																	0													34	36	35					19																	56703294		2203	4300	6503	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.513G>C	19.37:g.56703294C>G	ENSP00000466072:p.Gln171His			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q171H	ENST00000586855.2	37	c.513	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	c	3.523	-0.097303	0.07010	.	.	ENSG00000197213	ENST00000358992	T	0.06068	3.35	1.9	-2.29	0.06805	.	.	.	.	.	T	0.06872	0.0175	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	9	0.49607	T	0.09	.	9.6653	0.39981	0.0:0.3451:0.6549:0.0	.	171	A6NJL1	ZSA5B_HUMAN	H	171	ENSP00000351883:Q171H	ENSP00000351883:Q171H	Q	-	3	2	ZSCAN5B	61395106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.558000	0.02164	-0.393000	0.07739	-2.279000	0.00272	CAG	ZSCAN5B	-	NULL		0.612	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56703294	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56703294	C	G	56703294	3	3	14	1	0	0	0	0	1	0	0	0	18269	912	32	1	986	1	ZSCAN5B	19	56703294	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	1489	56703294	2425689	51	2380										
RRBP1	6238	genome.wustl.edu	37	chr20	17596583	17596583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ggcctgacctcctcaaactcGgccgtgagcttctgccgctg	11	16	2	2	rs146359410		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr20:17596583G>A	ENST00000377813.1	-	22	4242	c.3939C>T	c.(3937-3939)gcC>gcT	p.A1313A	RRBP1_ENST00000246043.4_Silent_p.A1313A|RRBP1_ENST00000455029.2_Silent_p.A654A|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Silent_p.A880A|RRBP1_ENST00000360807.4_Silent_p.A880A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1313					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCTCAAACTCGGCCGTGAGCT	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		17742	0		0	False		,,,				2504	0																0								G	,	2,4404	4.2+/-10.8	0,2,2201	72	57	62		2640,2640	-10.3	0	20	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RRBP1	NM_001042576.1,NM_004587.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	880/978,880/978	17596583	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3939C>T	20.37:g.17596583G>A			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.A1313	ENST00000377813.1	37	c.3939		20																																																																																			RRBP1	-	NULL		0.637	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17596583	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	silent	SNP	0.000	A	A	17596583	G	A	17596583	2	1	14	1	0	0	0	0	0	0	0	1	13708	1103	39	2		2	RRBP1	20	17596583	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		17596583	45428937	52	2381										
NFS1	9054	genome.wustl.edu	37	chr20	34263075	34263075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tgcccccctccactctgcagGgcctccacacgcacacgggg	10	20	1	0			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr20:34263075G>A	ENST00000374092.4	-	8	910	c.840C>T	c.(838-840)gcC>gcT	p.A280A	NFS1_ENST00000397425.1_Silent_p.A220A|NFS1_ENST00000540053.1_Silent_p.A78A|NFS1_ENST00000541387.1_Silent_p.A229A|NFS1_ENST00000374085.1_Silent_p.A220A|NFS1_ENST00000498084.1_5'Flank|RP1-309K20.6_ENST00000541176.2_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	280					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CACTCTGCAGGGCCTCCACAC	0.582																																																	0													25	26	26					20																	34263075		2203	4298	6501	SO:0001819	synonymous_variant	9054			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.840C>T	20.37:g.34263075G>A			B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase	p.A280	ENST00000374092.4	37	c.840	CCDS13262.1	20																																																																																			NFS1	-	pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase		0.582	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFS1	HGNC	protein_coding	OTTHUMT00000078936.4	G	NM_021100		34263075	-1	no_errors	ENST00000374092	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34263075	G	A	34263075	2	1	14	1	0	0	0	0	0	0	0	1	10409	1219	43	4		4	NFS1	20	34263075	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	16666492	34263075	28762445	53	2382										
CBS	875	genome.wustl.edu	37	chr21	44488638	44488638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	cagagctcacacttcaggccGaacttcttcccaatcttgtt	6	14	4	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr21:44488638G>A	ENST00000398165.3	-	4	556	c.297C>T	c.(295-297)ttC>ttT	p.F99F	CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Silent_p.F99F|CBS_ENST00000359624.3_Silent_p.F99F|CBS_ENST00000398158.1_Silent_p.F99F|CBS_ENST00000544202.1_Silent_p.F11F|CBS_ENST00000352178.5_Silent_p.F99F	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	99					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACTTCAGGCCGAACTTCTTCC	0.547																																																	0													102	98	100					21																	44488638		2203	4300	6503	SO:0001819	synonymous_variant	875			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.297C>T	21.37:g.44488638G>A			B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.F99	ENST00000398165.3	37	c.297	CCDS13693.1	21																																																																																			CBS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth		0.547	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	G	NM_000071		44488638	-1	no_errors	ENST00000398168	ensembl	human	known	70_37	silent	SNP	0.047	A	A	44488638	G	A	44488638	2	1	14	1	0	0	0	0	0	0	0	1	2716	1049	37	1		1	CBS	21	44488638	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		44488638	3641257	54	2383										
SULT4A1	25830	genome.wustl.edu	37	chr22	44234843	44234843	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctgataataagacaccaccaGatccttggggttgcgagcca	10	11	0	3			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr22:44234843G>A	ENST00000330884.4	-	4	532	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SULT4A1_ENST00000249130.5_Silent_p.L138L|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	138					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GACACCACCAGATCCTTGGGG	0.557																																																	0													126	93	104					22																	44234843		2203	4300	6503	SO:0001819	synonymous_variant	25830			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.412C>T	22.37:g.44234843G>A			B2R7N3|O43728	Silent	SNP	pfam_Sulfotransferase_dom	p.L138	ENST00000330884.4	37	c.412	CCDS14051.1	22																																																																																			SULT4A1	-	pfam_Sulfotransferase_dom		0.557	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	G	NM_014351		44234843	-1	no_errors	ENST00000330884	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44234843	G	A	44234843	2	1	14	1	0	0	0	0	0	0	0	1	15413	933	33	1		1	SULT4A1	22	44234843	Silent	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		44234843	7069723	55	2384										
FAM116B	414918	genome.wustl.edu	37	chr22	50757410	50757410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	tcacctccttgtctgtgagcCggaagtcgttcggatacacc	10	13	2	1			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr22:50757410C>T	ENST00000413817.3	-	2	271	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	67					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GTCTGTGAGCCGGAAGTCGTT	0.582																																																	0													28	32	30					22																	50757410		2129	4236	6365	SO:0001583	missense	414918			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.200G>A	22.37:g.50757410C>T	ENSP00000391524:p.Arg67Gln		A6X8I5	Missense_Mutation	SNP	pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9	p.R67Q	ENST00000413817.3	37	c.200	CCDS46732.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.448272|1.448272	0.26074|0.26074	.|.	.|.	ENSG00000205593|ENSG00000205593	ENST00000433760|ENST00000413817	.|T	.|0.39997	.|1.05	5.02|5.02	-1.05|-1.05	0.10036|0.10036	.|Afi1, N-terminal (1);	.|0.234784	.|0.40818	.|N	.|0.001004	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.24115|0.24115	0.695|0.695	0.31079|0.31079	N|N	0.712184|0.712184	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.27502|0.27502	-1.0072|-1.0072	5|10	.|0.15066	.|T	.|0.55	-15.1259|-15.1259	8.8861|8.8861	0.35404|0.35404	0.0:0.4731:0.0:0.5269|0.0:0.4731:0.0:0.5269	.|.	.|67;67	.|Q8NEG7;C9JIV6	.|F116B_HUMAN;.	S|Q	39|67	.|ENSP00000391524:R67Q	.|ENSP00000391524:R67Q	G|R	-|-	1|2	0|0	FAM116B|FAM116B	49099982|49099982	0.983000|0.983000	0.35010|0.35010	0.981000|0.981000	0.43875|0.43875	0.570000|0.570000	0.35934|0.35934	0.500000|0.500000	0.22562|0.22562	-0.367000|-0.367000	0.08052|0.08052	-0.339000|-0.339000	0.08088|0.08088	GGC|CGG	DENND6B	-	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9		0.582	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3	C	NM_001001794		50757410	-1	no_errors	ENST00000413817	ensembl	human	known	70_37	missense	SNP	0.980	T	T	50757410	C	T	50757410	3	4	14	1	0	0	0	0	1	0	0	0	5423	652	23	2	1633	2	FAM116B	22	50757410	Missense_Mutation	SNP	C	TCGA-C5-A1M5-01A-11D-A13W-08	6522567	50757410	547156	56	2385										
ATP1B4	23439	genome.wustl.edu	37	chrX	119509335	119509335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	gaaggcctgccaatttaagcGctccttcctaaagaactgct	8	12	0	1	rs376908557		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chrX:119509335G>A	ENST00000218008.3	+	5	728	c.671G>A	c.(670-672)cGc>cAc	p.R224H	ATP1B4_ENST00000361319.3_Missense_Mutation_p.R220H|ATP1B4_ENST00000539306.1_Missense_Mutation_p.R181H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAATTTAAGCGCTCCTTCCTA	0.483																																																	0								G	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	163	143	150		671,659	5.2	1	X		150	1,6727		0,1,2427,1872	no	missense,missense	ATP1B4	NM_001142447.2,NM_012069.4	29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	224/358,220/354	119509335	1,10562	2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.671G>A	X.37:g.119509335G>A	ENSP00000218008:p.Arg224His		Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.R224H	ENST00000218008.3	37	c.671	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844665	0.71488	0.0	1.49E-4	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.33216	1.42;1.42;1.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.999;0.999	T	0.64478	-0.6398	10	0.14656	T	0.56	-12.0358	16.8493	0.85989	0.0:0.0:1.0:0.0	.	181;189;224;220	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	H	224;220;181	ENSP00000218008:R224H;ENSP00000355346:R220H;ENSP00000443334:R181H	ENSP00000218008:R224H	R	+	2	0	ATP1B4	119393363	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	9.394000	0.97261	2.183000	0.69458	0.600000	0.82982	CGC	ATP1B4	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1	G	NM_001142447		119509335	1	no_errors	ENST00000218008	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119509335	G	A	119509335	3	1	14	1	0	0	0	0	1	0	0	0	1136	1087	38	2	689	2	ATP1B4	23	119509335	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08		119509335	35761225	57	2386										
ZIC3	7547	genome.wustl.edu	37	chrX	136649872	136649872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172413793103448	10	0.112864152220376	1.61133069828722	5.92969696969697	1.08470066518847	0.680172297752053	0.845855293358322	0	ctgcgggaagatctttgcccGttctgagaacctcaagatcc	10	12	3	3			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chrX:136649872G>A	ENST00000287538.5	+	1	1572	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	ZIC3_ENST00000370606.3_Missense_Mutation_p.R341H	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	341	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTGCCCGTTCTGAGAAC	0.582																																																	0													59	63	62					X																	136649872		2200	4296	6496	SO:0001583	missense	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1022G>A	X.37:g.136649872G>A	ENSP00000287538:p.Arg341His		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R341H	ENST00000287538.5	37	c.1022	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592411	0.86953	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.42131	0.98;0.98	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.31926	0.97	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.57619	-0.7780	10	0.72032	D	0.01	.	16.2665	0.82581	0.0:0.0:1.0:0.0	.	341	O60481	ZIC3_HUMAN	H	341	ENSP00000287538:R341H;ENSP00000359638:R341H	ENSP00000287538:R341H	R	+	2	0	ZIC3	136477538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.809000	0.86057	2.299000	0.77371	0.596000	0.82720	CGT	ZIC3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	G			136649872	1	no_errors	ENST00000287538	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136649872	G	A	136649872	3	1	14	1	0	0	0	0	1	0	0	0	17710	1145	40	2	1024	2	ZIC3	23	136649872	Missense_Mutation	SNP	G	TCGA-C5-A1M5-01A-11D-A13W-08	17140537	136649872	18620688	58	2387										
VPS13D	55187	genome.wustl.edu	37	chr1	12321050	12321050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctccaggagcctgtccgggaGccccagaacccggtggaggc	15	15	0	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:12321050G>A	ENST00000358136.3	+	12	1388	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A420T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGTCCGGGAGCCCCAGAACC	0.562																																																	0													80	94	89					1																	12321050		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1258G>A	1.37:g.12321050G>A	ENSP00000350854:p.Ala420Thr			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A420T	ENST00000358136.3	37	c.1258	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	4.902	0.167637	0.09339	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41758	0.99;0.99	5.95	5.04	0.67666	.	0.728701	0.13145	N	0.410320	T	0.24812	0.0602	N	0.14661	0.345	0.21967	N	0.999443	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.19418	-1.0306	10	0.15066	T	0.55	.	9.6202	0.39716	0.0736:0.1525:0.7739:0.0	.	420;420	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	T	420	ENSP00000348666:A420T;ENSP00000350854:A420T	ENSP00000348666:A420T	A	+	1	0	VPS13D	12243637	0.640000	0.27243	0.090000	0.20809	0.038000	0.13279	2.512000	0.45485	1.512000	0.48834	0.655000	0.94253	GCC	VPS13D	-	NULL		0.562	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12321050	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.125	A	A	12321050	G	A	12321050	3	1	15	1	0	0	0	0	1	0	0	0	17223	971	34	4	1300	4	VPS13D	1	12321050	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		12321050	236929571	1	2388										
NBPF1	55672	genome.wustl.edu	37	chr1	16890647	16890647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagtgagtcctgcaagacttCaggctcttccacttccatca	7	14	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:16890647C>T	ENST00000430580.2	-	29	4098	c.3211G>A	c.(3211-3213)Gaa>Aaa	p.E1071K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1051	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCAAGACTTCAGGCTCTTCC	0.463																																																	0													447	360	390					1																	16890647		2203	4299	6502	SO:0001583	missense	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3211G>A	1.37:g.16890647C>T	ENSP00000474456:p.Glu1071Lys		Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	C	NM_017940		16890647	-1	no_errors	ENST00000401007	ensembl	human	known	70_37	rna	SNP	0.007	T	T	16890647	C	T	16890647	3	4	15	1	0	0	0	0	1	0	0	0	10215	835	29	1	212	1	NBPF1	1	16890647	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	4569597	16890647	232359974	2	2389										
RCC1	1104	genome.wustl.edu	37	chr1	28861792	28861792	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aacgaccacttggtgatgctGacagctgatggtgacctcta	11	10	1	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:28861792G>A	ENST00000373833.6	+	9	846	c.561G>A	c.(559-561)ctG>ctA	p.L187L	RCC1_ENST00000373831.3_Silent_p.L218L|RCC1_ENST00000373832.1_Silent_p.L187L|RCC1_ENST00000398958.2_Silent_p.L187L|RCC1_ENST00000429051.1_3'UTR			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	187					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGATGCTGACAGCTGATG	0.587																																																	0													111	100	104					1																	28861792		2203	4300	6503	SO:0001819	synonymous_variant	1104			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.561G>A	1.37:g.28861792G>A			Q16269|Q6NT97	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L218	ENST00000373833.6	37	c.654	CCDS323.1	1																																																																																			RCC1	-	superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.587	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	HGNC	protein_coding	OTTHUMT00000010323.3	G	NM_001269		28861792	1	no_errors	ENST00000373831	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28861792	G	A	28861792	2	1	15	1	0	0	0	0	0	0	0	1	13203	1277	45	1		1	RCC1	1	28861792	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	11971145	28861792	220388829	3	2390										
KPNA6	23633	genome.wustl.edu	37	chr1	32620238	32620238	+	Frame_Shift_Del	DEL	G	G	-													0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tatcgaatgaagagctataaGaacaatgctctaaaccctga							TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:32620238delG	ENST00000373625.3	+	2	147	c.54delG	c.(52-54)aagfs	p.K18fs	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Frame_Shift_Del_p.K15fs|KPNA6_ENST00000545542.1_Frame_Shift_Del_p.K23fs	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	18	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGAGCTATAAGAACAATGCTC	0.453																																																	0													84	81	82					1																	32620238		2203	4300	6503	SO:0001589	frameshift_variant	23633			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.54delG	1.37:g.32620238delG	ENSP00000362728:p.Lys18fs		B2RDC7|D3DPP5|Q5VVU3	Frame_Shift_Del	DEL	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N24fs	ENST00000373625.3	37	c.69	CCDS352.1	1																																																																																			KPNA6	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB		0.453	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	HGNC	protein_coding	OTTHUMT00000012527.4	G	NM_012316		32620238	1	no_errors	ENST00000545542	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	32620238	G	-	32620238	7	5	15	1	0	1	0	1	0	0	0	0	8454	933	33	0	60	0	KPNA6	1	32620238	Frame_Shift_Del	DEL	G	TCGA-C5-A1M6-01A-11D-A13W-08	3758446	32620238	216630383	4	2391	13	2								
KPNA6	23633	genome.wustl.edu	37	chr1	32620244	32620245	+	Missense_Mutation	DNP	TG	TG	AT													0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	atgaagagctataagaacaaTgctctaaaccctgaagaaat							TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:32620244_32620245TG>AT	ENST00000373625.3	+	2	153_154	c.60_61TG>AT	c.(58-63)aaTGct>aaATct	p.20_21NA>KS	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.17_18NA>KS|KPNA6_ENST00000545542.1_Missense_Mutation_p.25_26NA>KS	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	20	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATAAGAACAATGCTCTAAACCC	0.45																																																	0																																										SO:0001583	missense	23633			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	Exception_encountered	1.37:g.32620244_32620245delinsAT	ENSP00000362728:p.N20_A21delinsKS		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N25K|p.A26S	ENST00000373625.3	37	c.75|c.76	CCDS352.1	1																																																																																			KPNA6	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB		0.45	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	HGNC	protein_coding	OTTHUMT00000012527.4	T|G	NM_012316		32620244|32620245	1	no_errors	ENST00000545542	ensembl	human	known	70_37	missense	SNP	1.000	A|T	AT	32620245	TG	AT	32620244	3	1	15	1	0	0	0	0	1	0	0	0	8454	1461	51	5	66	5	KPNA6	1	32620244	Missense_Mutation	DNP	TG	TCGA-C5-A1M6-01A-11D-A13W-08	6	32620244	216630377	5	2392	13	2								
ZMPSTE24	10269	genome.wustl.edu	37	chr1	40726594	40726594	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	acatttgagaaatctcgactCtatcaactggataaaagcac	6	9	3	1	rs281875363		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:40726594C>G	ENST00000372759.3	+	2	372	c.207C>G	c.(205-207)ctC>ctG	p.L69L	ZMPSTE24_ENST00000479131.1_3'UTR|RP1-39G22.7_ENST00000567508.1_RNA	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	69					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AATCTCGACTCTATCAACTGG	0.388																																																	0													136	136	136					1																	40726594		2203	4300	6503	SO:0001819	synonymous_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.207C>G	1.37:g.40726594C>G			B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	pfam_Peptidase_M48	p.L69	ENST00000372759.3	37	c.207	CCDS449.1	1																																																																																			ZMPSTE24	-	NULL		0.388	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	C			40726594	1	no_errors	ENST00000372759	ensembl	human	known	70_37	silent	SNP	0.939	G	G	40726594	C	G	40726594	2	3	15	1	0	0	0	0	0	0	0	1	17728	900	32	1		1	ZMPSTE24	1	40726594	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	8106350	40726594	208524027	6	2393										
WDR65	149465	genome.wustl.edu	37	chr1	43650992	43650992	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tgctgtttgagaagatggaaGaaaaggatttttaccgtgag	13	3	0	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:43650992G>A	ENST00000372492.4	+	5	1258	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	WDR65_ENST00000528956.1_Missense_Mutation_p.E312K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		312										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAAGATGGAAGAAAAGGATTT	0.483																																																	0													79	76	77					1																	43650992		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.934G>A	1.37:g.43650992G>A	ENSP00000361570:p.Glu312Lys		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E312K	ENST00000372492.4	37	c.934		1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649858	0.47362	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.07021	3.23;3.23	5.07	5.07	0.68467	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.786550	0.12546	N	0.459486	T	0.12774	0.0310	M	0.64170	1.965	0.35934	D	0.832754	B;B	0.20368	0.005;0.044	B;B	0.28385	0.011;0.089	T	0.12811	-1.0533	10	0.16896	T	0.51	.	14.148	0.65362	0.0751:0.0:0.9249:0.0	.	312;312	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	K	312	ENSP00000361570:E312K;ENSP00000435310:E312K	ENSP00000361570:E312K	E	+	1	0	WDR65	43423579	1.000000	0.71417	0.954000	0.39281	0.958000	0.62258	4.552000	0.60747	2.506000	0.84524	0.591000	0.81541	GAA	WDR65	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom		0.483	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43650992	1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	0.989	A	A	43650992	G	A	43650992	3	1	15	1	0	0	0	0	1	0	0	0	17347	943	33	1	948	1	WDR65	1	43650992	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	2924398	43650992	205599629	7	2394										
WDR65	149465	genome.wustl.edu	37	chr1	43651019	43651019	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	atttttaccgtgagagcagaGaaatcagggtaaggcgggaa	14	5	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:43651019G>C	ENST00000372492.4	+	5	1285	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	WDR65_ENST00000528956.1_Missense_Mutation_p.E321Q	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		321										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGAGCAGAGAAATCAGGGT	0.473																																																	0													54	53	54					1																	43651019		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.961G>C	1.37:g.43651019G>C	ENSP00000361570:p.Glu321Gln		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E321Q	ENST00000372492.4	37	c.961		1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628354	0.46944	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.07216	4.98;3.21	5.53	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.331776	0.31233	N	0.008002	T	0.15565	0.0375	M	0.75264	2.295	0.34141	D	0.666445	B;P	0.38129	0.255;0.619	B;B	0.43052	0.075;0.406	T	0.19910	-1.0291	10	0.18276	T	0.48	.	14.5929	0.68383	0.0707:0.0:0.9293:0.0	.	321;321	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	Q	321	ENSP00000361570:E321Q;ENSP00000435310:E321Q	ENSP00000361570:E321Q	E	+	1	0	WDR65	43423606	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	8.597000	0.90847	1.466000	0.48025	0.591000	0.81541	GAA	WDR65	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom		0.473	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43651019	1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43651019	G	C	43651019	3	2	15	1	0	0	0	0	1	0	0	0	17347	943	33	1	975	1	WDR65	1	43651019	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	27	43651019	205599602	8	2395										
EIF2B3	8891	genome.wustl.edu	37	chr1	45363062	45363062	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aaatccacgatgtattttttCaaacagtagaggtgggcatc	9	7	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:45363062C>T	ENST00000360403.2	-	6	747	c.621G>A	c.(619-621)ttG>ttA	p.L207L	EIF2B3_ENST00000372183.3_Silent_p.L207L	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	207					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTATTTTTTCAAACAGTAGA	0.368																																					Colon(26;357 658 2581 11857 12657)												0													70	67	68					1																	45363062		2203	4300	6503	SO:0001819	synonymous_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.621G>A	1.37:g.45363062C>T			B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	pfam_NTP_transferase	p.L207	ENST00000360403.2	37	c.621	CCDS517.1	1																																																																																			EIF2B3	-	NULL		0.368	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	C	NM_020365		45363062	-1	no_errors	ENST00000360403	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45363062	C	T	45363062	2	4	15	1	0	0	0	0	0	0	0	1	5012	825	29	1		1	EIF2B3	1	45363062	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	1712043	45363062	203887559	9	2396										
JAK1	3716	genome.wustl.edu	37	chr1	65305416	65305416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttcagagatttaacagccacCtgctcccctgtattgtcccc	6	15	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:65305416C>T	ENST00000342505.4	-	20	2960	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	904	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAACAGCCACCTGCTCCCCTG	0.493			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													128	117	121					1																	65305416		1917	4144	6061	SO:0001819	synonymous_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2712G>A	1.37:g.65305416C>T			Q59GQ2|Q9UD26	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.Q904	ENST00000342505.4	37	c.2712	CCDS41346.1	1																																																																																			JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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,pfscan_Prot_kinase_cat_dom		0.493	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	C	NM_002227		65305416	-1	no_errors	ENST00000342505	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65305416	C	T	65305416	2	4	15	1	0	0	0	0	0	0	0	1	7957	680	24	4		4	JAK1	1	65305416	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	19942354	65305416	183945205	10	2397										
S1PR1	1901	genome.wustl.edu	37	chr1	101704600	101704600	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	agctcggtctctgactacgtCaactatgatatcatcgtccg	8	12	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:101704600C>T	ENST00000305352.6	+	2	435	c.60C>T	c.(58-60)gtC>gtT	p.V20V	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	20					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CTGACTACGTCAACTATGATA	0.577											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	59	60					1																	101704600		2203	4300	6503	SO:0001819	synonymous_variant	1901			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.60C>T	1.37:g.101704600C>T		1360	D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.V20	ENST00000305352.6	37	c.60	CCDS777.1	1																																																																																			S1PR1	-	prints_S1P_rcpt		0.577	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	C	NM_001400		101704600	1	no_errors	ENST00000305352	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101704600	C	T	101704600	2	4	15	1	0	0	0	0	0	0	0	1	13823	813	29	1		1	S1PR1	1	101704600	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	36399184	101704600	147546021	11	2398										
F5	2153	genome.wustl.edu	37	chr1	169525907	169525907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcaaatgttttggggtgagaGaagatatgatccactttccc	11	7	0	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:169525907G>C	ENST00000367797.3	-	6	1130	c.929C>G	c.(928-930)tCt>tGt	p.S310C	F5_ENST00000367796.3_Missense_Mutation_p.S310C|F5_ENST00000546081.1_Missense_Mutation_p.S173C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	310	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGGGTGAGAGAAGATATGAT	0.478																																																	0													152	137	142					1																	169525907		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.929C>G	1.37:g.169525907G>C	ENSP00000356771:p.Ser310Cys		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S310C	ENST00000367797.3	37	c.929	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010274	0.75046	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99688	-6.41;-6.41;-6.41	6.07	6.07	0.98685	Cupredoxin (2);	0.049670	0.85682	D	0.000000	D	0.98729	0.9573	N	0.11154	0.105	0.42351	D	0.992376	D	0.89917	1.0	D	0.87578	0.998	D	0.96055	0.9034	9	0.02654	T	1	-22.1418	20.6439	0.99570	0.0:0.0:1.0:0.0	.	310	P12259	FA5_HUMAN	C	310;310;173	ENSP00000356771:S310C;ENSP00000356770:S310C;ENSP00000439664:S173C	ENSP00000356770:S310C	S	-	2	0	F5	167792531	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.434000	0.97515	2.890000	0.99128	0.650000	0.86243	TCT	F5	-	superfamily_Cupredoxin		0.478	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169525907	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	1.000	C	C	169525907	G	C	169525907	3	2	15	1	0	0	0	0	1	0	0	0	5360	942	33	1	5825	1	F5	1	169525907	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	67821307	169525907	79724714	12	2399										
PRRX1	5396	genome.wustl.edu	37	chr1	170705270	170705270	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gccaacagcattgccaacctGagactgaaggccaaggaata	10	11	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:170705270G>C	ENST00000239461.6	+	4	994	c.681G>C	c.(679-681)ctG>ctC	p.L227L	PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	227					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCCAACCTGAGACTGAAGG	0.458																																																	0													136	136	136					1																	170705270		2203	4300	6503	SO:0001819	synonymous_variant	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.681G>C	1.37:g.170705270G>C			B5BUM7|O60807	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.L227	ENST00000239461.6	37	c.681	CCDS1290.1	1																																																																																			PRRX1	-	pfam_OAR_dom,pfscan_OAR_dom		0.458	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	G	NM_006902		170705270	1	no_errors	ENST00000239461	ensembl	human	known	70_37	silent	SNP	1.000	C	C	170705270	G	C	170705270	2	2	15	1	0	0	0	0	0	0	0	1	12639	1277	45	1		1	PRRX1	1	170705270	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	1179363	170705270	78545351	13	2400										
ZBTB37	84614	genome.wustl.edu	37	chr1	173840150	173840150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctgagaatcagccttctggaGaagatgggagtagtgcagag	15	6	2	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:173840150G>C	ENST00000367701.5	+	2	978	c.787G>C	c.(787-789)Gaa>Caa	p.E263Q	ZBTB37_ENST00000367702.1_Missense_Mutation_p.E263Q|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E263Q|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E263Q|ZBTB37_ENST00000367704.1_Missense_Mutation_p.E263Q			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCCTTCTGGAGAAGATGGGAG	0.478																																																	0													79	78	79					1																	173840150		2203	4300	6503	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.787G>C	1.37:g.173840150G>C	ENSP00000356674:p.Glu263Gln		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E263Q	ENST00000367701.5	37	c.787	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797597	0.70567	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	D;T;D;D;T	0.82711	-1.6;2.55;-1.64;-1.64;2.55	6.03	6.03	0.97812	.	0.092787	0.64402	D	0.000001	T	0.80065	0.4555	L	0.27053	0.805	0.53688	D	0.999977	D;D	0.62365	0.98;0.991	P;P	0.59115	0.611;0.852	T	0.74937	-0.3494	10	0.18276	T	0.48	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	263;263	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	Q	263;263;263;263;171;263	ENSP00000356677:E263Q;ENSP00000415293:E263Q;ENSP00000409408:E263Q;ENSP00000356675:E263Q;ENSP00000356674:E263Q	ENSP00000356674:E263Q	E	+	1	0	ZBTB37	172106773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.861000	0.98227	0.655000	0.94253	GAA	ZBTB37	-	NULL		0.478	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	G	NM_032522		173840150	1	no_errors	ENST00000367701	ensembl	human	known	70_37	missense	SNP	1.000	C	C	173840150	G	C	173840150	3	2	15	1	0	0	0	0	1	0	0	0	17568	943	33	1	789	1	ZBTB37	1	173840150	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	3134880	173840150	75410471	14	2401										
ZBTB37	84614	genome.wustl.edu	37	chr1	173840188	173840188	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gaggaagtaacagccatggtGattgataccacaggccatgg	13	8	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:173840188G>T	ENST00000367701.5	+	2	1016	c.825G>T	c.(823-825)gtG>gtT	p.V275V	ZBTB37_ENST00000367702.1_Silent_p.V275V|ZBTB37_ENST00000432989.1_Silent_p.V275V|ZBTB37_ENST00000427304.1_Silent_p.V275V|ZBTB37_ENST00000367704.1_Silent_p.V275V			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CAGCCATGGTGATTGATACCA	0.488																																																	0													82	78	79					1																	173840188		2203	4300	6503	SO:0001819	synonymous_variant	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.825G>T	1.37:g.173840188G>T			Q5TC80|Q96M87|Q9BQ88	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V275	ENST00000367701.5	37	c.825	CCDS44278.1	1																																																																																			ZBTB37	-	NULL		0.488	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	G	NM_032522		173840188	1	no_errors	ENST00000367701	ensembl	human	known	70_37	silent	SNP	0.998	T	T	173840188	G	T	173840188	2	4	15	1	0	0	0	0	0	0	0	1	17568	1277	45	3		3	ZBTB37	1	173840188	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	38	173840188	75410433	15	2402										
FAM5B	57795	genome.wustl.edu	37	chr1	177250575	177250575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggcttaagctggccaacaatGaggtgggcaggatccagtcc	14	10	0	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:177250575G>C	ENST00000361539.4	+	8	2575	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	755					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GGCCAACAATGAGGTGGGCAG	0.557																																																	0													75	73	74					1																	177250575		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2263G>C	1.37:g.177250575G>C	ENSP00000354481:p.Glu755Gln		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.E755Q	ENST00000361539.4	37	c.2263	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029083	0.75504	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.21191	2.02	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.70487	0.969;0.709	T	0.47459	-0.9116	10	0.87932	D	0	-18.058	17.9969	0.89187	0.0:0.0:1.0:0.0	.	650;755	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	Q	508;755	ENSP00000354481:E755Q	ENSP00000354481:E755Q	E	+	1	0	FAM5B	175517198	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	9.731000	0.98807	2.346000	0.79739	0.313000	0.20887	GAG	FAM5B	-	NULL		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	G	NM_021165		177250575	1	no_errors	ENST00000361539	ensembl	human	known	70_37	missense	SNP	1.000	C	C	177250575	G	C	177250575	3	2	15	1	0	0	0	0	1	0	0	0	5611	1291	45	1	2289	1	FAM5B	1	177250575	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	3410387	177250575	72000046	16	2403										
MARK1	4139	genome.wustl.edu	37	chr1	220804416	220804416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggatgaatgttggtcatgaaGaggaagaactaaagccatat	12	4	1	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:220804416G>C	ENST00000366917.4	+	10	1215	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	MARK1_ENST00000402574.1_Missense_Mutation_p.E182Q|MARK1_ENST00000366918.4_Missense_Mutation_p.E295Q					MAP/microtubule affinity-regulating kinase 1									p.E317K(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGGTCATGAAGAGGAAGAACT	0.368																																																	1	Substitution - Missense(1)	skin(1)											126	121	122					1																	220804416		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.949G>C	1.37:g.220804416G>C	ENSP00000355884:p.Glu317Gln			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E317Q	ENST00000366917.4	37	c.949	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703207	0.88924	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.73681	-0.65;-0.44;-0.77	5.78	4.87	0.63330	.	0.053696	0.64402	D	0.000001	T	0.74351	0.3705	M	0.73372	2.23	0.80722	D	1	B;B;P;P	0.47253	0.109;0.158;0.492;0.892	B;B;B;B	0.42030	0.036;0.073;0.036;0.373	T	0.76929	-0.2777	10	0.45353	T	0.12	.	15.2203	0.73306	0.0675:0.0:0.9325:0.0	.	317;182;317;295	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	Q	182;295;317	ENSP00000386017:E182Q;ENSP00000355885:E295Q;ENSP00000355884:E317Q	ENSP00000355884:E317Q	E	+	1	0	MARK1	218871039	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.571000	0.98176	1.595000	0.50050	0.655000	0.94253	GAG	MARK1	-	NULL		0.368	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	G			220804416	1	no_errors	ENST00000366917	ensembl	human	known	70_37	missense	SNP	1.000	C	C	220804416	G	C	220804416	3	2	15	1	0	0	0	0	1	0	0	0	9335	943	33	1	987	1	MARK1	1	220804416	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	43553841	220804416	28446205	17	2404										
H3F3A	3020	genome.wustl.edu	37	chr1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gaggtctctgtaccatggctCgtacaaagcagactgcccgc	11	13	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:226252059C>T	ENST00000366813.1	+	1	382	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C|RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Missense_Mutation_p.R3C			P84243	H33_HUMAN	H3 histone, family 3A	3					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.R3C(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		TACCATGGCTCGTACAAAGCA	0.498			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q42.12	3020	"H3 histone, family 3A"		O	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											31	33	32					1																	226252059		2202	4300	6502	SO:0001583	missense	3020			BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.7C>T	1.37:g.226252059C>T	ENSP00000355778:p.Arg3Cys	2311	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R3C	ENST00000366813.1	37	c.7	CCDS1550.1	1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335723	0.24253	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.001	D;B	0.79784	0.993;0.001	T	0.75382	-0.3337	9	0.72032	D	0.01	.	16.7598	0.85509	0.0:1.0:0.0:0.0	.	3;3	B4DEB1;P84243	.;H33_HUMAN	C	3	ENSP00000355781:R3C;ENSP00000355780:R3C;ENSP00000355779:R3C;ENSP00000355778:R3C	ENSP00000355778:R3C	R	+	1	0	H3F3A	224318682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.535000	0.60629	2.106000	0.64143	0.655000	0.94253	CGT	H3F3A	-	superfamily_Histone-fold,prints_Histone_H3		0.498	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3A	HGNC	protein_coding	OTTHUMT00000091324.1	C	NM_002107		226252059	1	no_errors	ENST00000366813	ensembl	human	known	70_37	missense	SNP	1.000	T	T	226252059	C	T	226252059	3	4	15	1	0	0	0	0	1	0	0	0	6953	884	31	1	9	1	H3F3A	1	226252059	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	5447643	226252059	22998562	18	2405										
NLRP3	114548	genome.wustl.edu	37	chr1	247588394	247588394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gacgaacgttccagggagtcGtttgaagcttcccagccgag	13	11	0	1	rs200258061		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr1:247588394G>A	ENST00000336119.3	+	3	2395	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	NLRP3_ENST00000366496.2_Missense_Mutation_p.R550H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R550H|NLRP3_ENST00000366497.2_Missense_Mutation_p.R550H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R550H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R550H|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	550					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCAGGGAGTCGTTTGAAGCTT	0.473																																																	0													52	47	49					1																	247588394		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1649G>A	1.37:g.247588394G>A	ENSP00000337383:p.Arg550His		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R550H	ENST00000336119.3	37	c.1649	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	0.500	-0.871299	0.02570	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	3.93	1.03	0.20045	.	1.562030	0.03275	N	0.185366	T	0.77329	0.4114	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.0;0.002;0.003;0.003;0.001	T	0.58188	-0.7680	10	0.12766	T	0.61	.	2.651	0.04999	0.1034:0.186:0.5181:0.1925	.	550;550;550;550;550	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	550	ENSP00000375704:R550H;ENSP00000355453:R550H;ENSP00000337383:R550H;ENSP00000294752:R550H;ENSP00000355452:R550H;ENSP00000375703:R550H	ENSP00000337383:R550H	R	+	2	0	NLRP3	245655017	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	0.247000	0.21414	-0.127000	0.14921	CGT	NLRP3	-	NULL		0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	G	NM_004895		247588394	1	no_errors	ENST00000336119	ensembl	human	known	70_37	missense	SNP	0.000	A	A	247588394	G	A	247588394	3	1	15	1	0	0	0	0	1	0	0	0	10502	1145	40	2	1659	2	NLRP3	1	247588394	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	21336335	247588394	1662227	19	2406										
LRPPRC	10128	genome.wustl.edu	37	chr2	44123818	44123818	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aggaggaacaacaacaaaatCggggtttgttcagcaattgc	11	7	1	0	rs571550652		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:44123818C>T	ENST00000260665.7	-	35	3912	c.3855G>A	c.(3853-3855)ccG>ccA	p.P1285P		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1285	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAACAAAATCGGGGTTTGTT	0.363																																																	0													112	109	110					2																	44123818		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3855G>A	2.37:g.44123818C>T			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.P1285	ENST00000260665.7	37	c.3855	CCDS33189.1	2																																																																																			LRPPRC	-	NULL		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44123818	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	silent	SNP	0.000	T	T	44123818	C	T	44123818	2	4	15	1	0	0	0	0	0	0	0	1	8988	871	31	1		1	LRPPRC	2	44123818	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		44123818	199075555	20	2407										
LRPPRC	10128	genome.wustl.edu	37	chr2	44190816	44190816	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	atcaggatgtactcccaattCttgcattcctttgaggattt	7	9	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:44190816C>A	ENST00000260665.7	-	12	1456	c.1399G>T	c.(1399-1401)Gaa>Taa	p.E467*	LRPPRC_ENST00000409946.1_Nonsense_Mutation_p.E467*|LRPPRC_ENST00000409659.1_Nonsense_Mutation_p.E467*	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	467					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTCCCAATTCTTGCATTCCT	0.363																																																	0													136	132	134					2																	44190816		2203	4300	6503	SO:0001587	stop_gained	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1399G>T	2.37:g.44190816C>A	ENSP00000260665:p.Glu467*		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E467*	ENST00000260665.7	37	c.1399	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711281	0.68730	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659	.	.	.	5.47	4.58	0.56647	.	0.158211	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-7.8431	12.6498	0.56755	0.0:0.8596:0.0:0.1404	.	.	.	.	X	367;467;467;467	.	ENSP00000260665:E467X	E	-	1	0	LRPPRC	44044320	0.736000	0.28164	0.033000	0.17914	0.021000	0.10359	1.967000	0.40491	1.270000	0.44297	0.563000	0.77884	GAA	LRPPRC	-	NULL		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44190816	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	nonsense	SNP	0.275	A	A	44190816	C	A	44190816	4	1	15	1	0	0	0	0	0	1	0	0	8988	922	32	3	2893	3	LRPPRC	2	44190816	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	66998	44190816	199008557	21	2408										
DNAH6	1768	genome.wustl.edu	37	chr2	84806723	84806723	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tctttgaggcacaagatgcaGagtataaacttgagtttgtt	10	5	1	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:84806723G>A	ENST00000237449.6	+	13	2157	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E717K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E717K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	717	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACAAGATGCAGAGTATAAACT	0.353																																																	0													129	124	126					2																	84806723		2203	4300	6503	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2149G>A	2.37:g.84806723G>A	ENSP00000237449:p.Glu717Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E717K	ENST00000237449.6	37	c.2149	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291354	0.40494	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.23950	1.88;2.01;1.88	5.6	3.69	0.42338	.	0.000000	0.41194	D	0.000925	T	0.17916	0.0430	L	0.47716	1.5	0.30782	N	0.741898	B;B	0.21147	0.001;0.052	B;B	0.15052	0.003;0.012	T	0.09530	-1.0670	10	0.24483	T	0.36	.	4.2686	0.10775	0.0808:0.2807:0.4874:0.1511	.	717;296	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	K	717	ENSP00000374045:E717K;ENSP00000381326:E717K;ENSP00000237449:E717K	ENSP00000237449:E717K	E	+	1	0	DNAH6	84660234	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.352000	0.52239	1.374000	0.46228	0.655000	0.94253	GAG	DNAH6	-	NULL		0.353	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84806723	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84806723	G	A	84806723	3	1	15	1	0	0	0	0	1	0	0	0	4615	943	33	1	2199	1	DNAH6	2	84806723	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	40615907	84806723	158392650	22	2409			1	10		2	2	13	G		5.581834e-05
DNAH6	1768	genome.wustl.edu	37	chr2	84806735	84806735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aagatgcagagtataaacttGagtttgttccaactactacc	7	8	0	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:84806735G>A	ENST00000237449.6	+	13	2169	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E721K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E721K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	721	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTATAAACTTGAGTTTGTTCC	0.348																																																	0													130	123	125					2																	84806735		2203	4300	6503	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2161G>A	2.37:g.84806735G>A	ENSP00000237449:p.Glu721Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E721K	ENST00000237449.6	37	c.2161	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908628	0.33721	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24151	1.87;2.0;1.87	5.6	4.7	0.59300	.	0.000000	0.41194	D	0.000939	T	0.33556	0.0867	L	0.49350	1.555	0.32872	D	0.509406	B;D	0.56521	0.016;0.976	B;P	0.56398	0.01;0.797	T	0.24941	-1.0146	10	0.06365	T	0.9	.	13.8345	0.63402	0.0:0.2924:0.7076:0.0	.	721;300	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	K	721	ENSP00000374045:E721K;ENSP00000381326:E721K;ENSP00000237449:E721K	ENSP00000237449:E721K	E	+	1	0	DNAH6	84660246	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.291000	0.65667	1.338000	0.45544	0.655000	0.94253	GAG	DNAH6	-	NULL		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84806735	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84806735	G	A	84806735	3	1	15	1	0	0	0	0	1	0	0	0	4615	1291	45	1	2211	1	DNAH6	2	84806735	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	12	84806735	158392638	23	2410			1	10		2	2	13	G		5.581834e-05
TEKT4	150483	genome.wustl.edu	37	chr2	95542476	95542476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	agtgcatggcccatcgtactCgctaccccaccatcctgcag	8	17	0	0	rs1052809		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:95542476C>T	ENST00000295201.4	+	6	1407	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	424					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCATCGTACTCGCTACCCCAC	0.592													C|||	1	0.000199681	0	0	5008	,	,		19845	0		0	False		,,,				2504	0.001																0													77	53	61					2																	95542476		2203	4300	6503	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1270C>T	2.37:g.95542476C>T	ENSP00000295201:p.Arg424Cys			Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.R424C	ENST00000295201.4	37	c.1270	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	12.76	2.033512	0.35893	.	.	ENSG00000163060	ENST00000295201	T	0.02916	4.11	2.43	2.43	0.29744	.	0.261531	0.37623	N	0.002019	T	0.03651	0.0104	L	0.60455	1.87	0.80722	D	1	P	0.36874	0.572	B	0.32583	0.148	T	0.50792	-0.8786	10	0.44086	T	0.13	-7.0137	10.5484	0.45072	0.0:1.0:0.0:0.0	rs1052809;rs3193279	424	Q8WW24	TEKT4_HUMAN	C	424	ENSP00000295201:R424C	ENSP00000295201:R424C	R	+	1	0	TEKT4	94906203	0.031000	0.19500	0.725000	0.30721	0.755000	0.42902	0.890000	0.28295	1.049000	0.40321	0.281000	0.19383	CGC	TEKT4	-	pfam_Tektin		0.592	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	HGNC	protein_coding	OTTHUMT00000252777.1	C	NM_144705		95542476	1	no_errors	ENST00000295201	ensembl	human	known	70_37	missense	SNP	0.689	T	T	95542476	C	T	95542476	3	4	15	1	0	0	0	0	1	0	0	0	15785	884	31	1	1292	1	TEKT4	2	95542476	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	10735741	95542476	147656897	24	2411										
C2orf55	343990	genome.wustl.edu	37	chr2	99439361	99439361	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctccgcttctctctcgggctCaggcgccggccctgggggcc	14	18	3	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:99439361C>G	ENST00000397899.2	-	7	1706	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	459	Pro-rich.																CTCTCGGGCTCAGGCGCCGGC	0.741																																																	0													12	15	14					2																	99439361		1794	4029	5823	SO:0001583	missense	343990			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1375G>C	2.37:g.99439361C>G	ENSP00000380996:p.Glu459Gln			Missense_Mutation	SNP	NULL	p.E459Q	ENST00000397899.2	37	c.1375	CCDS42720.1	2	.	.	.	.	.	.	.	.	.	.	C	6.867	0.529237	0.13127	.	.	ENSG00000196872	ENST00000397899	T	0.45668	0.89	0.235	0.235	0.15431	.	.	.	.	.	T	0.38081	0.1027	L	0.40543	1.245	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.27872	-1.0061	8	0.19147	T	0.46	.	.	.	.	.	459	Q6NV74	CB055_HUMAN	Q	459	ENSP00000380996:E459Q	ENSP00000380996:E459Q	E	-	1	0	C2orf55	98805793	0.001000	0.12720	0.161000	0.22692	0.150000	0.21749	0.011000	0.13264	0.308000	0.22923	0.313000	0.20887	GAG	KIAA1211L	-	NULL		0.741	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	C	NM_207362		99439361	-1	no_errors	ENST00000397899	ensembl	human	known	70_37	missense	SNP	0.489	G	G	99439361	C	G	99439361	3	3	15	1	0	0	0	0	1	0	0	0	2181	835	29	1	1529	1	C2orf55	2	99439361	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	3896885	99439361	143760012	25	2412										
SULT1C3	442038	genome.wustl.edu	37	chr2	108881768	108881768	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gacaaggactaccagaagaaGatggcaggaagcaccctaac	11	10	0	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:108881768G>A	ENST00000329106.2	+	7	876	c.876G>A	c.(874-876)aaG>aaA	p.K292K		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	292					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACCAGAAGAAGATGGCAGGAA	0.448																																																	0													116	109	112					2																	108881768		2203	4300	6503	SO:0001819	synonymous_variant	442038			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.876G>A	2.37:g.108881768G>A			Q6IMI5	Silent	SNP	pfam_Sulfotransferase_dom	p.K292	ENST00000329106.2	37	c.876	CCDS33267.1	2																																																																																			SULT1C3	-	pfam_Sulfotransferase_dom		0.448	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	HGNC	protein_coding	OTTHUMT00000330255.1	G	NM_001008743		108881768	1	no_errors	ENST00000329106	ensembl	human	known	70_37	silent	SNP	0.999	A	A	108881768	G	A	108881768	2	1	15	1	0	0	0	0	0	0	0	1	15408	933	33	1		1	SULT1C3	2	108881768	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	9442407	108881768	134317605	26	2413										
GCG	2641	genome.wustl.edu	37	chr2	163002156	163002156	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggtcccttcagcatgtctctCaaattcatcgtgacgtttgg	9	11	4	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr2:163002156C>G	ENST00000418842.2	-	4	540	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	GCG_ENST00000375497.3_Missense_Mutation_p.E96Q	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	96					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						GCATGTCTCTCAAATTCATCG	0.418																																																	0													220	216	217					2																	163002156		1891	4116	6007	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.286G>C	2.37:g.163002156C>G	ENSP00000387662:p.Glu96Gln		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.E96Q	ENST00000418842.2	37	c.286	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359019	0.82353	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.47177	0.85;0.85	4.79	4.79	0.61399	Glucagon/GIP/secretin/VIP (1);	0.426382	0.27759	N	0.017975	T	0.65460	0.2693	M	0.72894	2.215	0.47214	D	0.999355	D	0.63046	0.992	P	0.58970	0.849	T	0.70890	-0.4749	10	0.87932	D	0	-19.819	18.1809	0.89777	0.0:1.0:0.0:0.0	.	96	P01275	GLUC_HUMAN	Q	96	ENSP00000387662:E96Q;ENSP00000364647:E96Q	ENSP00000364647:E96Q	E	-	1	0	GCG	162710402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.849000	0.62882	2.361000	0.80049	0.591000	0.81541	GAG	GCG	-	NULL		0.418	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	C	NM_002054		163002156	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	G	G	163002156	C	G	163002156	3	3	15	1	0	0	0	0	1	0	0	0	6309	835	29	1	268	1	GCG	2	163002156	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	54120388	163002156	80197217	27	2414										
EDEM1	9695	genome.wustl.edu	37	chr3	5251877	5251877	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	taggcaaccaagaatcccttCtacctccatgtaggaatgga	8	11	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:5251877C>G	ENST00000256497.4	+	9	1660	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	EDEM1_ENST00000445686.1_Missense_Mutation_p.F314L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	509					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.F509L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGAATCCCTTCTACCTCCATG	0.448																																																	1	Substitution - Missense(1)	urinary_tract(1)											136	122	127					3																	5251877		2203	4300	6503	SO:0001583	missense	9695			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1527C>G	3.37:g.5251877C>G	ENSP00000256497:p.Phe509Leu		A8K9C8|B4DXP3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.F509L	ENST00000256497.4	37	c.1527	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899981	0.72754	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.71461	-0.57;-0.57	5.36	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.66297	2.02	0.80722	D	1	D	0.56287	0.975	P	0.60541	0.876	T	0.71497	-0.4575	10	0.22109	T	0.4	-31.4728	6.3808	0.21533	0.0:0.7845:0.0:0.2155	.	509	Q92611	EDEM1_HUMAN	L	509;314	ENSP00000256497:F509L;ENSP00000394099:F314L	ENSP00000256497:F509L	F	+	3	2	EDEM1	5226877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.868000	0.39509	2.516000	0.84829	0.655000	0.94253	TTC	EDEM1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.448	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	C	NM_014674		5251877	1	no_errors	ENST00000256497	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5251877	C	G	5251877	3	3	15	1	0	0	0	0	1	0	0	0	4921	912	32	1	1561	1	EDEM1	3	5251877	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		5251877	192770553	28	2415										
IQSEC1	9922	genome.wustl.edu	37	chr3	12983327	12983327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aggctgaggggctgtccaggGatgtgccagtctcactgctg	16	10	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:12983327G>A	ENST00000273221.4	-	2	320	c.104C>T	c.(103-105)tCc>tTc	p.S35F	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	35					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGTCCAGGGATGTGCCAGT	0.647																																																	0													17	18	17					3																	12983327		2202	4299	6501	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.104C>T	3.37:g.12983327G>A	ENSP00000273221:p.Ser35Phe		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.S35F	ENST00000273221.4	37	c.104	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666286	0.47677	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	D;D	0.82711	-1.64;-1.64	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000001	D	0.88100	0.6346	.	.	.	0.45139	D	0.998159	D;D	0.71674	0.996;0.998	P;D	0.63488	0.862;0.915	D	0.87793	0.2620	9	0.48119	T	0.1	.	10.924	0.47182	0.086:0.0:0.914:0.0	.	21;35	E9PG60;Q6DN90	.;IQEC1_HUMAN	F	35;21;21	ENSP00000273221:S35F;ENSP00000402299:S21F	ENSP00000273221:S35F	S	-	2	0	IQSEC1	12958327	1.000000	0.71417	0.402000	0.26371	0.341000	0.28922	5.339000	0.65953	2.312000	0.78011	0.655000	0.94253	TCC	IQSEC1	-	NULL		0.647	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	G	NM_014869		12983327	-1	no_errors	ENST00000273221	ensembl	human	known	70_37	missense	SNP	0.766	A	A	12983327	G	A	12983327	3	1	15	1	0	0	0	0	1	0	0	0	7837	1174	41	1	3384	1	IQSEC1	3	12983327	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	7731450	12983327	185039103	29	2416										
OXNAD1	92106	genome.wustl.edu	37	chr3	16345057	16345057	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aaagaacacatttgctttgaGaagtggtggtaggaggcaga	14	4	0	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:16345057G>T	ENST00000285083.5	+	9	1392	c.927G>T	c.(925-927)gaG>gaT	p.E309D	OXNAD1_ENST00000435829.2_Missense_Mutation_p.E327D|OXNAD1_ENST00000544043.1_Missense_Mutation_p.E327D|OXNAD1_ENST00000605932.1_Missense_Mutation_p.E309D|OXNAD1_ENST00000606098.1_Missense_Mutation_p.E308D	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	309						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TTTGCTTTGAGAAGTGGTGGT	0.408																																																	0													59	55	57					3																	16345057		2203	4300	6503	SO:0001583	missense	92106			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.927G>T	3.37:g.16345057G>T	ENSP00000285083:p.Glu309Asp		Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.E327D	ENST00000285083.5	37	c.981	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713700	0.68730	.	.	ENSG00000154814	ENST00000285083;ENST00000544043	T;T	0.35973	1.39;1.28	5.03	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.53561	1.675	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	T	0.44483	-0.9325	10	0.44086	T	0.13	-17.8528	8.8515	0.35203	0.2269:0.0:0.7731:0.0	.	327;309	F5H620;Q96HP4	.;OXND1_HUMAN	D	309;327	ENSP00000285083:E309D;ENSP00000437967:E327D	ENSP00000285083:E309D	E	+	3	2	OXNAD1	16320061	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	3.622000	0.54217	2.340000	0.79590	0.455000	0.32223	GAG	OXNAD1	-	NULL		0.408	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1	G	NM_138381		16345057	1	no_errors	ENST00000544043	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16345057	G	T	16345057	3	4	15	1	0	0	0	0	1	0	0	0	11357	933	33	3	953	3	OXNAD1	3	16345057	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	3361730	16345057	181677373	30	2417										
TRAK1	22906	genome.wustl.edu	37	chr3	42132994	42132994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tttcaattcgggcagcccgtCagggctcagcctctgccagg	12	14	4	0	rs201790561	byFrequency	TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:42132994C>T	ENST00000327628.5	+	1	433	c.33C>T	c.(31-33)gtC>gtT	p.V11V	TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	11					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCAGCCCGTCAGGGCTCAGC	0.537																																					GBM(44;195 884 22595 31865 41850)												0													82	78	79					3																	42132994		1898	4117	6015	SO:0001819	synonymous_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.33C>T	3.37:g.42132994C>T			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.V11	ENST00000327628.5	37	c.33	CCDS43072.1	3																																																																																			TRAK1	-	NULL		0.537	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	C	NM_014965		42132994	1	no_errors	ENST00000327628	ensembl	human	putative	70_37	silent	SNP	0.000	T	T	42132994	C	T	42132994	2	4	15	1	0	0	0	0	0	0	0	1	16480	813	29	1		1	TRAK1	3	42132994	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	25787937	42132994	155889436	31	2418										
FYCO1	79443	genome.wustl.edu	37	chr3	46008968	46008968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctgtagctccttctccagctCcctgttggcctgccggagct	10	16	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:46008968C>T	ENST00000296137.2	-	8	2063	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E620K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	620					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCTCCAGCTCCCTGTTGGCC	0.622																																																	0													68	76	73					3																	46008968		2203	4299	6502	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1858G>A	3.37:g.46008968C>T	ENSP00000296137:p.Glu620Lys		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E620K	ENST00000296137.2	37	c.1858	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321320	0.23994	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.20881	2.04;2.04	5.7	4.82	0.62117	.	0.338259	0.34802	N	0.003665	T	0.20414	0.0491	M	0.64997	1.995	0.20563	N	0.999888	B;B	0.13594	0.008;0.002	B;B	0.13407	0.009;0.003	T	0.20207	-1.0282	10	0.19590	T	0.45	-17.4857	9.1495	0.36953	0.0:0.7307:0.1877:0.0816	.	620;620	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	620	ENSP00000296137:E620K;ENSP00000441178:E620K	ENSP00000296137:E620K	E	-	1	0	FYCO1	45983972	0.567000	0.26626	0.895000	0.35142	0.878000	0.50629	1.240000	0.32731	1.390000	0.46547	0.655000	0.94253	GAG	FYCO1	-	NULL		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46008968	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.714	T	T	46008968	C	T	46008968	3	4	15	1	0	0	0	0	1	0	0	0	6143	864	30	1	2622	1	FYCO1	3	46008968	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	3875974	46008968	152013462	32	2419										
GNAT1	2779	genome.wustl.edu	37	chr3	50231257	50231257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcaggacgtgctgcgctcgcGagtcaagaccactggcatca	13	13	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:50231257G>A	ENST00000433068.1	+	5	577	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	GNAT1_ENST00000232461.3_Missense_Mutation_p.R174Q|GNAT1_ENST00000481246.1_3'UTR	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	174					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGCGCTCGCGAGTCAAGACC	0.652																																																	0													67	60	62					3																	50231257		2203	4300	6503	SO:0001583	missense	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.521G>A	3.37:g.50231257G>A	ENSP00000387555:p.Arg174Gln		Q4VBN2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.R174Q	ENST00000433068.1	37	c.521	CCDS2812.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.055851	0.97241	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	T;T;T	0.65364	-0.15;-0.15;-0.15	5.7	5.7	0.88788	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.89445	0.3726	10	0.87932	D	0	.	18.6092	0.91277	0.0:0.0:1.0:0.0	.	174	P11488	GNAT1_HUMAN	Q	174;174;126	ENSP00000232461:R174Q;ENSP00000387555:R174Q;ENSP00000403537:R126Q	ENSP00000232461:R174Q	R	+	2	0	GNAT1	50206261	1.000000	0.71417	0.960000	0.40013	0.929000	0.56500	9.668000	0.98619	2.711000	0.92665	0.561000	0.74099	CGA	GNAT1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.652	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	HGNC	protein_coding	OTTHUMT00000345957.1	G	NM_000172		50231257	1	no_errors	ENST00000232461	ensembl	human	known	70_37	missense	SNP	0.973	A	A	50231257	G	A	50231257	3	1	15	1	0	0	0	0	1	0	0	0	6530	1058	37	1	539	1	GNAT1	3	50231257	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	4222289	50231257	147791173	33	2420										
PBRM1	55193	genome.wustl.edu	37	chr3	52651372	52651372	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagcatatttgtcattgcggAtgttatgctcaattattttc	7	7	2	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:52651372A>T	ENST00000296302.7	-	14	1725	c.1724T>A	c.(1723-1725)aTc>aAc	p.I575N	PBRM1_ENST00000409767.1_Missense_Mutation_p.I590N|PBRM1_ENST00000409057.1_Missense_Mutation_p.I575N|PBRM1_ENST00000410007.1_Missense_Mutation_p.I575N|PBRM1_ENST00000337303.4_Missense_Mutation_p.I575N|PBRM1_ENST00000394830.3_Missense_Mutation_p.I575N|PBRM1_ENST00000356770.4_Missense_Mutation_p.I543N|PBRM1_ENST00000409114.3_Missense_Mutation_p.I590N			Q86U86	PB1_HUMAN	polybromo 1	575	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCATTGCGGATGTTATGCTC	0.403			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													123	117	119					3																	52651372		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1724T>A	3.37:g.52651372A>T	ENSP00000296302:p.Ile575Asn		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I575N	ENST00000296302.7	37	c.1724		3	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714965	0.89112	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.992;0.995;0.999;0.997;1.0;1.0;0.998;0.998	T	0.74325	-0.3702	10	0.87932	D	0	-21.6054	16.2167	0.82231	1.0:0.0:0.0:0.0	.	575;575;575;575;590;590;575;543;575	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	N	543;575;575;575;575;575;590;590;575;534	ENSP00000349213:I543N;ENSP00000378307:I575N;ENSP00000296302:I575N;ENSP00000338302:I575N;ENSP00000386593:I575N;ENSP00000386529:I575N;ENSP00000386643:I590N;ENSP00000386601:I590N;ENSP00000387775:I575N;ENSP00000397662:I534N	ENSP00000296302:I575N	I	-	2	0	PBRM1	52626412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATC	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	A	NM_018165		52651372	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52651372	A	T	52651372	3	4	15	1	0	0	0	0	1	0	0	0	11515	333	12	5	3244	5	PBRM1	3	52651372	Missense_Mutation	SNP	A	TCGA-C5-A1M6-01A-11D-A13W-08	2420115	52651372	145371058	34	2421										
SPATA12	353324	genome.wustl.edu	37	chr3	57108134	57108134	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gtatggaagatggggataatGagaggaccacaggatggttg	17	3	0	2	rs201843696		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:57108134G>A	ENST00000334325.1	+	2	1087	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	138										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		tggggataatgagaggaccac	0.488																																																	0								G	,LYS/GLU	0,4406		0,0,2203	72	72	72		,412	-2.2	0	3		72	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	ARHGEF3,SPATA12	NM_001128615.1,NM_181727.1	,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,138/191	57108134	1,13005	2203	4300	6503	SO:0001583	missense	353324			AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.412G>A	3.37:g.57108134G>A	ENSP00000335392:p.Glu138Lys		A0AVA8|B2RMW1	Missense_Mutation	SNP	NULL	p.E138K	ENST00000334325.1	37	c.412	CCDS2879.1	3	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102998	0.20632	0.0	1.16E-4	ENSG00000186451	ENST00000334325	.	.	.	1.98	-2.21	0.06973	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20042	-1.0287	8	0.87932	D	0	.	6.3729	0.21491	0.3915:0.0:0.6085:0.0	.	138	Q7Z6I5	SPT12_HUMAN	K	138	.	ENSP00000335392:E138K	E	+	1	0	SPATA12	57083174	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.243000	0.02905	-0.619000	0.05648	-0.253000	0.11424	GAG	SPATA12	-	NULL		0.488	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA12	HGNC	protein_coding	OTTHUMT00000352457.2	G	NM_181727		57108134	1	no_errors	ENST00000334325	ensembl	human	known	70_37	missense	SNP	0.000	A	A	57108134	G	A	57108134	3	1	15	1	0	0	0	0	1	0	0	0	15029	1291	45	1	414	1	SPATA12	3	57108134	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	4456762	57108134	140914296	35	2422										
CRYBG3	131544	genome.wustl.edu	37	chr3	97596165	97596165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttctggcatgtgaaaggtctGagagtagaactgaccttgtc	12	7	2	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:97596165G>C	ENST00000182096.4	+	1	347	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2043							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAAAGGTCTGAGAGTAGAAC	0.433																																																	0													58	57	57					3																	97596165		1929	4138	6067	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.283G>C	3.37:g.97596165G>C	ENSP00000182096:p.Glu95Gln		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E95Q	ENST00000182096.4	37	c.283		3	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327351	0.41197	.	.	ENSG00000080200	ENST00000182096	T	0.75050	-0.9	5.84	4.96	0.65561	.	0.120682	0.40818	N	0.001014	T	0.60843	0.2300	L	0.32530	0.975	0.80722	D	1	P	0.44734	0.842	B	0.37731	0.257	T	0.65492	-0.6155	10	0.62326	D	0.03	.	9.6349	0.39802	0.1451:0.0:0.8549:0.0	.	95	Q68DQ2	CRBG3_HUMAN	Q	95	ENSP00000182096:E95Q	ENSP00000182096:E95Q	E	+	1	0	CRYBG3	99078855	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	2.924000	0.48876	2.777000	0.95525	0.650000	0.86243	GAG	CRYBG3	-	NULL		0.433	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97596165	1	no_errors	ENST00000182096	ensembl	human	known	70_37	missense	SNP	0.997	C	C	97596165	G	C	97596165	3	2	15	1	0	0	0	0	1	0	0	0	3918	1291	45	1	285	1	CRYBG3	3	97596165	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	40488031	97596165	100426265	36	2423										
PLA1A	51365	genome.wustl.edu	37	chr3	119344010	119344010	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gtttcacttgaaggaactgaGaaacaaggacaccaacatcg	9	9	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:119344010G>C	ENST00000273371.4	+	9	1124	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	PLA1A_ENST00000488919.1_Missense_Mutation_p.R178T|PLA1A_ENST00000495992.1_Missense_Mutation_p.R335T|PLA1A_ENST00000494440.1_Missense_Mutation_p.R335T	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	351					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGGAACTGAGAAACAAGGAC	0.488																																																	0													197	152	167					3																	119344010		2203	4300	6503	SO:0001583	missense	51365			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1052G>C	3.37:g.119344010G>C	ENSP00000273371:p.Arg351Thr		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.R351T	ENST00000273371.4	37	c.1052	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025099	0.19433	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.93366	-2.62;-3.21;-2.61;-2.71	4.56	4.56	0.56223	.	1.071890	0.07345	N	0.881493	D	0.88258	0.6388	L	0.36672	1.1	0.35098	D	0.764943	B;P	0.38535	0.319;0.635	B;B	0.30855	0.121;0.091	T	0.82428	-0.0462	10	0.16896	T	0.51	-20.1336	12.4337	0.55588	0.0:0.1691:0.8309:0.0	.	335;351	Q53H76-3;Q53H76	.;PLA1A_HUMAN	T	351;178;335;335	ENSP00000273371:R351T;ENSP00000420625:R178T;ENSP00000417326:R335T;ENSP00000418793:R335T	ENSP00000273371:R351T	R	+	2	0	PLA1A	120826700	0.999000	0.42202	0.979000	0.43373	0.005000	0.04900	2.852000	0.48310	2.545000	0.85829	0.655000	0.94253	AGA	PLA1A	-	pirsf_Lipoprotein_lipase_LIPH		0.488	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	G			119344010	1	no_errors	ENST00000273371	ensembl	human	known	70_37	missense	SNP	0.995	C	C	119344010	G	C	119344010	3	2	15	1	0	0	0	0	1	0	0	0	12012	942	33	1	1086	1	PLA1A	3	119344010	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	21747845	119344010	78678420	37	2424										
GOLGB1	2804	genome.wustl.edu	37	chr3	121414503	121414503	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	attctcataggactgcagaaGaatttcatactctttttgta	6	7	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:121414503G>C	ENST00000340645.5	-	13	4977	c.4852C>G	c.(4852-4854)Ctt>Gtt	p.L1618V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L1623V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1618					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L1618I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GACTGCAGAAGAATTTCATAC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											111	114	113					3																	121414503		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4852C>G	3.37:g.121414503G>C	ENSP00000341848:p.Leu1618Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L1618V	ENST00000340645.5	37	c.4852	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341556	0.41498	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.72942	0.96;0.94;-0.7	5.68	5.68	0.88126	.	0.000000	0.53938	D	0.000044	D	0.83571	0.5283	M	0.75264	2.295	0.53005	D	0.999969	D;D;D;D;D	0.89917	0.998;1.0;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.997;0.996;0.997;0.999	T	0.81760	-0.0785	10	0.34782	T	0.22	.	17.2816	0.87130	0.0:0.0:1.0:0.0	.	1543;1582;1623;1623;1618	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	1618;1623;1582	ENSP00000341848:L1618V;ENSP00000377275:L1623V;ENSP00000418231:L1582V	ENSP00000341848:L1618V	L	-	1	0	GOLGB1	122897193	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.628000	0.83189	2.670000	0.90874	0.561000	0.74099	CTT	GOLGB1	-	NULL		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	G	NM_004487		121414503	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121414503	G	C	121414503	3	2	15	1	0	0	0	0	1	0	0	0	6584	942	33	1	4967	1	GOLGB1	3	121414503	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	2070493	121414503	76607927	38	2425										
ZNF148	7707	genome.wustl.edu	37	chr3	124951197	124951197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttttttttttagccaaaagtCtggccagttgtggcatcagg	10	7	2	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:124951197C>G	ENST00000360647.4	-	9	2858	c.2373G>C	c.(2371-2373)caG>caC	p.Q791H	ZNF148_ENST00000485866.1_Missense_Mutation_p.Q791H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.Q791H|ZNF148_ENST00000468369.1_Missense_Mutation_p.Q141H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q791H|ZNF148_ENST00000544464.1_Missense_Mutation_p.Q128H|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	791					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AGCCAAAAGTCTGGCCAGTTG	0.398																																																	0													30	31	31					3																	124951197		2185	4289	6474	SO:0001583	missense	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2373G>C	3.37:g.124951197C>G	ENSP00000353863:p.Gln791His		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q791H	ENST00000360647.4	37	c.2373	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183331	0.38511	.	.	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.88	5.0	0.66597	.	0.060682	0.64402	D	0.000003	T	0.43986	0.1272	N	0.24115	0.695	0.47037	D	0.999299	D;D	0.61080	0.987;0.989	P;P	0.55391	0.775;0.737	T	0.42447	-0.9451	10	0.87932	D	0	-8.7785	14.434	0.67268	0.0:0.9298:0.0:0.0702	.	141;791	G5E9X2;Q9UQR1	.;ZN148_HUMAN	H	791;141;791;128;791;791	ENSP00000353863:Q791H;ENSP00000420102:Q141H;ENSP00000420335:Q791H;ENSP00000437916:Q128H;ENSP00000419322:Q791H;ENSP00000420448:Q791H	ENSP00000353863:Q791H	Q	-	3	2	ZNF148	126433887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.363000	0.44178	2.780000	0.95670	0.655000	0.94253	CAG	ZNF148	-	NULL		0.398	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	C	NM_021964		124951197	-1	no_errors	ENST00000360647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124951197	C	G	124951197	3	3	15	1	0	0	0	0	1	0	0	0	17764	912	32	1	15	1	ZNF148	3	124951197	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	3536694	124951197	73071233	39	2426										
WDR49	151790	genome.wustl.edu	37	chr3	167293737	167293737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tagaattgtaaagaacacaaGtgactgctttctcatggctt	8	7	1	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:167293737G>A	ENST00000308378.3	-	4	760	c.455C>T	c.(454-456)aCt>aTt	p.T152I	WDR49_ENST00000453925.2_Missense_Mutation_p.T205I|WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000479765.1_Missense_Mutation_p.T493I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	152										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGAACACAAGTGACTGCTTT	0.403																																																	0													157	157	157					3																	167293737		2203	4300	6503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.455C>T	3.37:g.167293737G>A	ENSP00000311343:p.Thr152Ile		Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T152I	ENST00000308378.3	37	c.455	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.089|6.089	0.384717|0.384717	0.11524|0.11524	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000479765;ENST00000453925	.|T;T;T	.|0.34072	.|1.38;1.88;2.09	5.76|5.76	4.87|4.87	0.63330|0.63330	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.366176	.|0.29699	.|N	.|0.011438	T|T	0.27205|0.27205	0.0667|0.0667	L|L	0.40543|0.40543	1.245|1.245	0.26454|0.26454	N|N	0.975566|0.975566	.|B;B;B	.|0.34372	.|0.264;0.451;0.361	.|B;B;B	.|0.26693	.|0.072;0.07;0.066	T|T	0.09596|0.09596	-1.0667|-1.0667	5|10	.|0.22109	.|T	.|0.4	.|.	14.1796|14.1796	0.65564|0.65564	0.0:0.2944:0.7056:0.0|0.0:0.2944:0.7056:0.0	.|.	.|205;493;152	.|E7EQK3;E9PDB0;Q8IV35	.|.;.;WDR49_HUMAN	F|I	217|152;493;205	.|ENSP00000311343:T152I;ENSP00000419749:T493I;ENSP00000410863:T205I	.|ENSP00000311343:T152I	L|T	-|-	1|2	0|0	WDR49|WDR49	168776431|168776431	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.049000|0.049000	0.14656|0.14656	2.532000|2.532000	0.45659|0.45659	1.419000|1.419000	0.47118|0.47118	0.650000|0.650000	0.86243|0.86243	CTT|ACT	WDR49	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	G	NM_178824		167293737	-1	no_errors	ENST00000308378	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167293737	G	A	167293737	3	1	15	1	0	0	0	0	1	0	0	0	17333	1029	36	4	1686	4	WDR49	3	167293737	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	42342540	167293737	30728693	40	2427										
CCDC50	152137	genome.wustl.edu	37	chr3	191047505	191047505	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagtccaagctgcctggagtCaaggaaggtaagggccccgg	15	11	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:191047505C>G	ENST00000392455.3	+	1	640	c.42C>G	c.(40-42)gtC>gtG	p.V14V	CCDC50_ENST00000392456.3_Silent_p.V14V|UTS2B_ENST00000340524.5_Intron|UTS2B_ENST00000490825.1_5'Flank	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	14						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TGCCTGGAGTCAAGGAAGGTA	0.692																																																	0													25	27	27					3																	191047505		2201	4296	6497	SO:0001819	synonymous_variant	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.42C>G	3.37:g.191047505C>G			Q86VH7	Silent	SNP	NULL	p.V14	ENST00000392455.3	37	c.42	CCDS33913.1	3																																																																																			CCDC50	-	NULL		0.692	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	C	NM_174908		191047505	1	no_errors	ENST00000392456	ensembl	human	known	70_37	silent	SNP	0.991	G	G	191047505	C	G	191047505	2	3	15	1	0	0	0	0	0	0	0	1	2825	813	29	1		1	CCDC50	3	191047505	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	23753768	191047505	6974925	41	2428										
OPA1	4976	genome.wustl.edu	37	chr3	193380646	193380646	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	accaagaatgaattggagaaGatgttgaaatgtaatgagga	12	2	0	6			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:193380646G>A	ENST00000392438.3	+	24	2625	c.2391G>A	c.(2389-2391)aaG>aaA	p.K797K	OPA1_ENST00000361715.2_Silent_p.K816K|OPA1_ENST00000361908.3_Silent_p.K834K|OPA1_ENST00000361510.2_Silent_p.K852K|OPA1_ENST00000361828.2_Silent_p.K815K|OPA1_ENST00000361150.2_Silent_p.K798K	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	797					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATTGGAGAAGATGTTGAAAT	0.373																																																	0													84	78	80					3																	193380646		2203	4300	6503	SO:0001819	synonymous_variant	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2391G>A	3.37:g.193380646G>A			D3DNW4	Silent	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.K852	ENST00000392438.3	37	c.2556	CCDS43186.1	3																																																																																			OPA1	-	NULL		0.373	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	G	NM_130837		193380646	1	no_errors	ENST00000361510	ensembl	human	known	70_37	silent	SNP	0.999	A	A	193380646	G	A	193380646	2	1	15	1	0	0	0	0	0	0	0	1	10895	933	33	1		1	OPA1	3	193380646	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	2333141	193380646	4641784	42	2429										
ACAP2	23527	genome.wustl.edu	37	chr3	195022341	195022341	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cccaggtgtctaaagttaaaGatcgtacttttgaaaaatga	8	6	1	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr3:195022341G>C	ENST00000326793.6	-	15	1588	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	453	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TAAAGTTAAAGATCGTACTTT	0.323																																																	0													48	52	51					3																	195022341		2200	4299	6499	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1358C>G	3.37:g.195022341G>C	ENSP00000324287:p.Ser453Cys		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S453C	ENST00000326793.6	37	c.1358	CCDS33924.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899625|4.899625	0.91962|0.91962	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000450200|ENST00000326793	.|T	.|0.62941	.|-0.01	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87849|0.87849	0.6281|0.6281	H|H	0.98068|0.98068	4.14|4.14	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91702|0.91702	0.5374|0.5374	5|10	.|0.87932	.|D	.|0	.|.	19.2458|19.2458	0.93902|0.93902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|453	.|Q15057	.|ACAP2_HUMAN	M|C	11|453	.|ENSP00000324287:S453C	.|ENSP00000324287:S453C	I|S	-|-	3|2	3|0	ACAP2|ACAP2	196503630|196503630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.813000|9.813000	0.99286|0.99286	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	ATC|TCT	ACAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.323	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	G	NM_012287		195022341	-1	no_errors	ENST00000326793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	195022341	G	C	195022341	3	2	15	1	0	0	0	0	1	0	0	0	119	942	33	1	1014	1	ACAP2	3	195022341	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	1641695	195022341	3000089	43	2430										
ATP10D	57205	genome.wustl.edu	37	chr4	47565612	47565612	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttttaggtgctactggcattGaagaccgtctgcaggaggga	14	7	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr4:47565612G>A	ENST00000273859.3	+	15	2952	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	895					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TACTGGCATTGAAGACCGTCT	0.463																																																	0													95	85	88					4																	47565612		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2683G>A	4.37:g.47565612G>A	ENSP00000273859:p.Glu895Lys		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E895K	ENST00000273859.3	37	c.2683	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726719	0.89298	.	.	ENSG00000145246	ENST00000273859	T	0.68479	-0.33	5.22	5.22	0.72569	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.113958	0.64402	D	0.000018	D	0.85716	0.5761	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88629	0.3168	10	0.87932	D	0	-22.3901	17.9434	0.89032	0.0:0.0:1.0:0.0	.	895	Q9P241	AT10D_HUMAN	K	895	ENSP00000273859:E895K	ENSP00000273859:E895K	E	+	1	0	ATP10D	47260369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.123000	0.77176	2.716000	0.92895	0.591000	0.81541	GAA	ATP10D	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.463	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	G	NM_020453		47565612	1	no_errors	ENST00000273859	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47565612	G	A	47565612	3	1	15	1	0	0	0	0	1	0	0	0	1119	1291	45	1	2737	1	ATP10D	4	47565612	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		47565612	143588664	44	2431										
SRD5A3	79644	genome.wustl.edu	37	chr4	56212638	56212638	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctgctcccgggctgcgcgatCttccaggacctgatccgcta	11	16	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr4:56212638C>G	ENST00000264228.4	+	1	363	c.135C>G	c.(133-135)atC>atG	p.I45M		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	45					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GCTGCGCGATCTTCCAGGACC	0.697																																																	0													11	14	13					4																	56212638		2180	4258	6438	SO:0001583	missense	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.135C>G	4.37:g.56212638C>G	ENSP00000264228:p.Ile45Met		Q4W5Q6	Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.I45M	ENST00000264228.4	37	c.135	CCDS3498.1	4	.	.	.	.	.	.	.	.	.	.	C	9.799	1.179931	0.21787	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.37411	1.2;2.1	3.95	0.939	0.19506	.	0.690923	0.14503	N	0.315594	T	0.16514	0.0397	N	0.08118	0	0.25118	N	0.990666	B	0.26400	0.148	B	0.24541	0.054	T	0.16897	-1.0387	10	0.40728	T	0.16	.	6.4304	0.21794	0.0:0.4853:0.0:0.5147	.	45	Q9H8P0	PORED_HUMAN	M	45;20	ENSP00000264228:I45M;ENSP00000424714:I20M	ENSP00000264228:I45M	I	+	3	3	SRD5A3	55907395	0.983000	0.35010	0.997000	0.53966	0.338000	0.28826	0.172000	0.16704	0.261000	0.21753	0.313000	0.20887	ATC	SRD5A3	-	NULL		0.697	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3	HGNC	protein_coding	OTTHUMT00000250644.2	C	NM_024592		56212638	1	no_errors	ENST00000264228	ensembl	human	known	70_37	missense	SNP	0.973	G	G	56212638	C	G	56212638	3	3	15	1	0	0	0	0	1	0	0	0	15170	903	32	1	137	1	SRD5A3	4	56212638	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	8647026	56212638	134941638	45	2432										
UGT2B15	7366	genome.wustl.edu	37	chr4	69513036	69513036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	actcaatccagaagactgctCgatccaggggcttcattggt	10	11	2	2	rs148054959		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr4:69513036C>T	ENST00000338206.5	-	6	1388	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	460					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GAAGACTGCTCGATCCAGGGG	0.423													c|||	1	0.000199681	0	0	5008	,	,		18174	0		0	False		,,,				2504	0.001																0								C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	129	131	131		1379	2.1	0.1	4	dbSNP_134	131	2,8590	2.2+/-6.3	0,2,4294	no	missense	UGT2B15	NM_001076.2	43	0,4,6495	TT,TC,CC		0.0233,0.0454,0.0308	possibly-damaging	460/531	69513036	4,12994	2203	4296	6499	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1379G>A	4.37:g.69513036C>T	ENSP00000341045:p.Arg460Gln		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R460Q	ENST00000338206.5	37	c.1379	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	13.58	2.279810	0.40294	4.54E-4	2.33E-4	ENSG00000196620	ENST00000338206	T	0.62788	0.0	2.96	2.11	0.27256	.	0.333144	0.25250	U	0.032028	T	0.57681	0.2070	M	0.81179	2.53	0.21184	N	0.999768	P	0.35872	0.525	B	0.34180	0.177	T	0.48328	-0.9045	10	0.30078	T	0.28	.	7.6968	0.28600	0.0:0.8673:0.0:0.1327	.	460	P54855	UDB15_HUMAN	Q	460	ENSP00000341045:R460Q	ENSP00000341045:R460Q	R	-	2	0	UGT2B15	69195631	0.000000	0.05858	0.079000	0.20413	0.645000	0.38454	-0.539000	0.06113	0.448000	0.26722	0.552000	0.68991	CGA	UGT2B15	-	pfam_UDP_glucos_trans		0.423	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69513036	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	0.831	T	T	69513036	C	T	69513036	3	4	15	1	0	0	0	0	1	0	0	0	16989	884	31	1	1834	1	UGT2B15	4	69513036	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	13300398	69513036	121641240	46	2433										
PRKG2	5593	genome.wustl.edu	37	chr4	82088333	82088333	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	accacttccaagcagtcaatGatcttggttaatttatcttc	5	10	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr4:82088333G>A	ENST00000395578.1	-	6	1010	c.894C>T	c.(892-894)atC>atT	p.I298I	PRKG2_ENST00000264399.1_Silent_p.I298I|PRKG2_ENST00000418486.2_Silent_p.I298I|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	298					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGCAGTCAATGATCTTGGTTA	0.239																																																	0													27	29	29					4																	82088333		2187	4276	6463	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.894C>T	4.37:g.82088333G>A			B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.I298	ENST00000395578.1	37	c.894	CCDS3589.1	4																																																																																			PRKG2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase		0.239	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	G	NM_006259		82088333	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	silent	SNP	1.000	A	A	82088333	G	A	82088333	2	1	15	1	0	0	0	0	0	0	0	1	12550	1280	45	1		1	PRKG2	4	82088333	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	12575297	82088333	109065943	47	2434										
EXOSC9	5393	genome.wustl.edu	37	chr4	122724120	122724120	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	actcatggaaagatgtctaaGaaattcgaagtgtatagaca	9	5	2	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr4:122724120G>C	ENST00000243498.5	+	4	440	c.332G>C	c.(331-333)aGa>aCa	p.R111T	EXOSC9_ENST00000512454.1_Missense_Mutation_p.R95T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.R111T|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	111	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AGATGTCTAAGAAATTCGAAG	0.388																																																	0													129	122	124					4																	122724120		2203	4300	6503	SO:0001583	missense	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.332G>C	4.37:g.122724120G>C	ENSP00000243498:p.Arg111Thr		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.R111T	ENST00000243498.5	37	c.332	CCDS3722.2	4	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901333	0.92035	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.95	5.11	0.69529	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.041341	0.85682	D	0.000000	T	0.82098	0.4963	M	0.83774	2.66	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.993	D;P;D	0.67231	0.95;0.893;0.913	D	0.85146	0.0983	10	0.72032	D	0.01	-19.6281	15.1454	0.72647	0.0676:0.0:0.9324:0.0	.	95;111;111	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	T	111;111;111;95	ENSP00000243498:R111T;ENSP00000368984:R111T;ENSP00000422205:R111T;ENSP00000425782:R95T	ENSP00000243498:R111T	R	+	2	0	EXOSC9	122943570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	1.519000	0.48950	0.650000	0.86243	AGA	EXOSC9	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.388	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	G	NM_005033		122724120	1	no_errors	ENST00000379663	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122724120	G	C	122724120	3	2	15	1	0	0	0	0	1	0	0	0	5333	942	33	1	346	1	EXOSC9	4	122724120	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	40635787	122724120	68430156	48	2435										
CDKN2AIP	55602	genome.wustl.edu	37	chr4	184367811	184367811	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gttaacttccaaaactagttCagaggcaagtgtttcatcat	7	8	3	1	rs368122042		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr4:184367811C>T	ENST00000504169.1	+	3	1181	c.974C>T	c.(973-975)tCa>tTa	p.S325L	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	325	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAACTAGTTCAGAGGCAAGT	0.443																																																	0								C	LEU/SER	0,4406		0,0,2203	89	89	89		974	4.6	1	4		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDKN2AIP	NM_017632.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	325/581	184367811	1,13005	2203	4300	6503	SO:0001583	missense	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.974C>T	4.37:g.184367811C>T	ENSP00000427108:p.Ser325Leu		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.S325L	ENST00000504169.1	37	c.974	CCDS34110.1	4	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324781	0.41197	0.0	1.16E-4	ENSG00000168564	ENST00000504169	.	.	.	5.49	4.63	0.57726	.	0.000000	0.47852	D	0.000212	T	0.59115	0.2170	M	0.64404	1.975	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.59815	-0.7383	9	0.62326	D	0.03	-8.3655	13.1994	0.59758	0.0:0.9252:0.0:0.0748	.	325	Q9NXV6	CARF_HUMAN	L	325	.	ENSP00000427108:S325L	S	+	2	0	CDKN2AIP	184604805	0.949000	0.32298	1.000000	0.80357	0.996000	0.88848	2.419000	0.44671	2.865000	0.98341	0.655000	0.94253	TCA	CDKN2AIP	-	NULL		0.443	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	C	NM_017632		184367811	1	no_errors	ENST00000504169	ensembl	human	known	70_37	missense	SNP	1.000	T	T	184367811	C	T	184367811	3	4	15	1	0	0	0	0	1	0	0	0	3167	838	29	1	984	1	CDKN2AIP	4	184367811	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	61643691	184367811	6786465	49	2436										
MARCH6	10299	genome.wustl.edu	37	chr5	10417496	10417496	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gggttcccttggatcagactCctcttttttatccatggcag	9	11	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr5:10417496C>G	ENST00000274140.5	+	22	2395	c.2263C>G	c.(2263-2265)Cct>Gct	p.P755A	MARCH6_ENST00000503788.1_Missense_Mutation_p.P650A|MARCH6_ENST00000510792.1_Missense_Mutation_p.P453A|MARCH6_ENST00000449913.2_Missense_Mutation_p.P707A	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	755					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGATCAGACTCCTCTTTTTTA	0.473																																																	0													185	180	182					5																	10417496		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2263C>G	5.37:g.10417496C>G	ENSP00000274140:p.Pro755Ala		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.P755A	ENST00000274140.5	37	c.2263	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413046	0.62511	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.51325	1.73;0.71;1.74;0.71	5.48	5.48	0.80851	.	0.107842	0.64402	D	0.000004	T	0.60261	0.2255	M	0.62723	1.935	0.80722	D	1	B;D;P;P	0.59357	0.332;0.985;0.837;0.908	B;P;P;P	0.54965	0.298;0.765;0.475;0.527	T	0.57335	-0.7829	10	0.35671	T	0.21	-20.917	17.5484	0.87869	0.0:1.0:0.0:0.0	.	650;707;335;755	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	A	707;650;755;453	ENSP00000414643:P707A;ENSP00000425930:P650A;ENSP00000274140:P755A;ENSP00000424512:P453A	ENSP00000274140:P755A	P	+	1	0	MARCH6	10470496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.584000	0.87258	0.650000	0.86243	CCT	MARCH6	-	NULL		0.473	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	C	NM_005885		10417496	1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10417496	C	G	10417496	3	3	15	1	0	0	0	0	1	0	0	0	9328	855	30	1	2349	1	MARCH6	5	10417496	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		10417496	170497764	50	2437										
MAST4	375449	genome.wustl.edu	37	chr5	66427716	66427716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagaatgtactttgctgagaCggtcttggccttggaatatt	11	7	1	2	rs375581688		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr5:66427716C>T	ENST00000403625.2	+	16	2325	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M	MAST4_ENST00000405643.1_Missense_Mutation_p.T498M|MAST4_ENST00000404260.3_Missense_Mutation_p.T680M|MAST4_ENST00000261569.7_Missense_Mutation_p.T483M|MAST4_ENST00000403666.1_Missense_Mutation_p.T488M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	680	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			FAETV -> YIVKL (in Ref. 4; BAB71532). {ECO:0000305}.		cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGCTGAGACGGTCTTGGCC	0.393																																																	0								C	MET/THR,MET/THR	0,3742		0,0,1871	150	149	149		2030,1463	6.1	1	5		149	1,8211		0,1,4105	no	missense,missense	MAST4	NM_001164664.1,NM_015183.2	81,81	0,1,5976	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging	677/2624,488/2435	66427716	1,11953	1871	4106	5977	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2030C>T	5.37:g.66427716C>T	ENSP00000385727:p.Thr677Met		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.T680M	ENST00000403625.2	37	c.2039	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909860	0.92107	0.0	1.22E-4	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	N	0.01048	-1.04	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;0.998	D;D;D;D	0.97110	0.965;0.999;1.0;0.974	T	0.61806	-0.6987	10	0.72032	D	0.01	-17.868	20.6593	0.99626	0.0:1.0:0.0:0.0	.	498;680;483;488	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	M	680;677;488;498;498;483;483	ENSP00000385048:T680M;ENSP00000385727:T677M;ENSP00000384313:T488M;ENSP00000384099:T498M;ENSP00000261569:T483M	ENSP00000261569:T483M	T	+	2	0	MAST4	66463472	1.000000	0.71417	0.971000	0.41717	0.849000	0.48306	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	ACG	MAST4	-	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		0.393	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66427716	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66427716	C	T	66427716	3	4	15	1	0	0	0	0	1	0	0	0	9350	536	19	2	2222	2	MAST4	5	66427716	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	56010220	66427716	114487544	51	2438										
SMAD5	4090	genome.wustl.edu	37	chr5	135513103	135513103	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	attatcttcatgggcctcttCagtggctggataaagtcctt	9	9	4	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr5:135513103C>T	ENST00000545279.1	+	9	1690	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	SMAD5_ENST00000545620.1_Nonsense_Mutation_p.Q444*|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	445	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGGCCTCTTCAGTGGCTGGA	0.428																																																	0													69	79	76					5																	135513103		2153	4287	6440	SO:0001587	stop_gained	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"SMADs"	6771	protein-coding gene	gene with protein product		603110	"MAD, mothers against decapentaplegic homolog 5 (Drosophila)", "SMAD, mothers against DPP homolog 5 (Drosophila)"	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.1330C>T	5.37:g.135513103C>T	ENSP00000441954:p.Gln444*		O14688|Q15798|Q9UQA1	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q444*	ENST00000545279.1	37	c.1330		5	.	.	.	.	.	.	.	.	.	.	C	37	6.152107	0.97329	.	.	ENSG00000113658	ENST00000545279;ENST00000545620	.	.	.	5.83	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.1045	0.72310	0.0:0.9322:0.0:0.0678	.	.	.	.	X	444	.	ENSP00000441954:Q444X	Q	+	1	0	SMAD5	135541002	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.818000	0.86416	1.482000	0.48325	-0.150000	0.13652	CAG	SMAD5	-	superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type		0.428	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		C	NM_005903		135513103	1	no_errors	ENST00000545279	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	135513103	C	T	135513103	4	4	15	1	0	0	0	0	0	1	0	0	14791	825	29	1	1354	1	SMAD5	5	135513103	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	69085387	135513103	45402157	52	2439										
PCDHB2	56133	genome.wustl.edu	37	chr5	140476487	140476487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cggtgtcttcgctcttcctcTtctcggtgctcctgttcgtg	10	14	4	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr5:140476487T>C	ENST00000194155.4	+	1	2261	c.2113T>C	c.(2113-2115)Ttc>Ctc	p.F705L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	705					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTTCCTCTTCTCGGTGCT	0.697																																																	0													40	43	42					5																	140476487		2159	4193	6352	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2113T>C	5.37:g.140476487T>C	ENSP00000194155:p.Phe705Leu		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F705L	ENST00000194155.4	37	c.2113	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	T	0.007	-2.007075	0.00426	.	.	ENSG00000112852	ENST00000194155	T	0.07444	3.19	4.12	-5.25	0.02781	.	.	.	.	.	T	0.02848	0.0085	N	0.11756	0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45469	-0.9259	9	0.02654	T	1	.	5.2106	0.15314	0.0977:0.4913:0.152:0.2591	.	705	Q9Y5E7	PCDB2_HUMAN	L	705	ENSP00000194155:F705L	ENSP00000194155:F705L	F	+	1	0	PCDHB2	140456671	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.341000	0.00250	-0.809000	0.04381	-0.379000	0.06801	TTC	PCDHB2	-	NULL		0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	T	NM_018936		140476487	1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.000	C	C	140476487	T	C	140476487	3	2	15	1	0	0	0	0	1	0	0	0	11566	1609	56	5	2115	5	PCDHB2	5	140476487	Missense_Mutation	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08	4963384	140476487	40438773	53	2440										
ANXA6	309	genome.wustl.edu	37	chr5	150497334	150497334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctcaccgtggccagagaaatGaggatcctcctgaagtggcc	12	12	1	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr5:150497334G>A	ENST00000354546.5	-	19	1730	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	ANXA6_ENST00000377751.5_Silent_p.L158L|ANXA6_ENST00000356496.5_Silent_p.L501L|ANXA6_ENST00000521512.1_Silent_p.L294L|ANXA6_ENST00000523714.1_Silent_p.L469L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	501					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGAAATGAGGATCCTCC	0.592																																																	0													48	53	51					5																	150497334		1928	4135	6063	SO:0001819	synonymous_variant	309			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1503C>T	5.37:g.150497334G>A			B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV	p.L501	ENST00000354546.5	37	c.1503	CCDS47315.1	5																																																																																			ANXA6	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.592	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	HGNC	protein_coding	OTTHUMT00000377668.2	G	NM_001155		150497334	-1	no_errors	ENST00000354546	ensembl	human	known	70_37	silent	SNP	0.566	A	A	150497334	G	A	150497334	2	1	15	1	0	0	0	0	0	0	0	1	722	1277	45	1		1	ANXA6	5	150497334	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	10020847	150497334	30417926	54	2441										
ADAMTS2	9509	genome.wustl.edu	37	chr5	178579207	178579207	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tggtcttgcaaaagtaggggTtgtcaggatggctgcaccac	14	8	2	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr5:178579207T>A	ENST00000251582.7	-	10	1666	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.N522I	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	522	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AAAGTAGGGGTTGTCAGGATG	0.607																																																	0													79	71	73					5																	178579207		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1565A>T	5.37:g.178579207T>A	ENSP00000251582:p.Asn522Ile			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.N522I	ENST00000251582.7	37	c.1565	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660237	0.88154	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.66280	-0.2;-0.2	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000008	T	0.77246	0.4102	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80020	-0.1557	10	0.87932	D	0	.	14.5676	0.68188	0.0:0.0:0.0:1.0	.	522;522	O95450-2;O95450	.;ATS2_HUMAN	I	522	ENSP00000251582:N522I;ENSP00000274609:N522I	ENSP00000251582:N522I	N	-	2	0	ADAMTS2	178511813	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.832000	0.86757	2.033000	0.60031	0.454000	0.30748	AAC	ADAMTS2	-	NULL		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	T	NM_014244		178579207	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178579207	T	A	178579207	3	1	15	1	0	0	0	0	1	0	0	0	265	1725	60	5	2197	5	ADAMTS2	5	178579207	Missense_Mutation	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08	28081873	178579207	2336053	55	2442										
DSP	1832	genome.wustl.edu	37	chr6	7580551	7580552	+	Frame_Shift_Ins	INS	-	-	AG													0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tcaacatcaccaagaccaccINSatccaccagctcaccatgca							TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr6:7580551_7580552insAG	ENST00000379802.3	+	23	4469_4470	c.4128_4129insAG	c.(4129-4131)atcfs	p.I1377fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1377	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAAGACCACCATCCACCAGCT	0.411																																																	0																																										SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	Exception_encountered	6.37:g.7580551_7580552insAG	ENSP00000369129:p.Ile1377fs		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Ins	INS	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I1376fs	ENST00000379802.3	37	c.4128_4129	CCDS4501.1	6																																																																																			DSP	-	NULL		0.411	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	NM_004415		7580552	1	no_errors	ENST00000379802	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	AG	AG	7580552	-	AG	7580551	7	5	15	1	0	1	1	0	0	0	0	0	4791	581	21	0	4218	0	DSP	6	7580551	Frame_Shift_Ins	INS	-	TCGA-C5-A1M6-01A-11D-A13W-08		7580551	163534516	56	2443										
RNF39	80352	genome.wustl.edu	37	chr6	30043424	30043424	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tgaccgccttcgagcgcgcaGatggcgggccgcccctgctg	15	16	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr6:30043424G>C	ENST00000244360.6	-	1	240	c.143C>G	c.(142-144)tCt>tGt	p.S48C	RNF39_ENST00000376751.3_Missense_Mutation_p.S48C	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	48						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CGAGCGCGCAGATGGCGGGCC	0.667																																					NSCLC(8;188 360 1520 20207 31481)												0													25	28	27					6																	30043424		2200	4298	6498	SO:0001583	missense	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.143C>G	6.37:g.30043424G>C	ENSP00000244360:p.Ser48Cys		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.S48C	ENST00000244360.6	37	c.143	CCDS4673.1	6	.	.	.	.	.	.	.	.	.	.	g	19.42	3.825027	0.71143	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.72615	-0.19;-0.67	3.79	0.574	0.17368	.	.	.	.	.	T	0.25717	0.0626	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.79;0.924	B;B	0.40285	0.173;0.325	T	0.08953	-1.0697	9	0.49607	T	0.09	.	4.8647	0.13602	0.2375:0.2897:0.4728:0.0	.	48;48	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	C	48	ENSP00000365942:S48C;ENSP00000244360:S48C	ENSP00000244360:S48C	S	-	2	0	RNF39	30151403	0.000000	0.05858	0.010000	0.14722	0.864000	0.49448	0.259000	0.18405	0.200000	0.20447	0.436000	0.28706	TCT	RNF39	-	NULL		0.667	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF39	HGNC	protein_coding	OTTHUMT00000076625.3	G	NM_170769		30043424	-1	no_errors	ENST00000244360	ensembl	human	known	70_37	missense	SNP	0.002	C	C	30043424	G	C	30043424	3	2	15	1	0	0	0	0	1	0	0	0	13521	942	33	1	1135	1	RNF39	6	30043424	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	22462873	30043424	141071643	57	2444										
AKIRIN2	55122	genome.wustl.edu	37	chr6	88391343	88391343	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aagaaatgttattacctggtGaagctggtccactgaggaga	12	6	0	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr6:88391343G>A	ENST00000257787.5	-	2	898	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	125					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						ATTACCTGGTGAAGCTGGTCC	0.383																																																	0													136	113	121					6																	88391343		2203	4300	6503	SO:0001583	missense	55122			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.374C>T	6.37:g.88391343G>A	ENSP00000257787:p.Ser125Leu		Q9BQB1	Missense_Mutation	SNP	NULL	p.S125L	ENST00000257787.5	37	c.374	CCDS5013.1	6	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432713	0.43224	.	.	ENSG00000135334	ENST00000257787	T	0.37752	1.18	5.93	5.93	0.95920	.	0.400304	0.25783	N	0.028321	T	0.12390	0.0301	N	0.25957	0.775	0.47994	D	0.999562	B	0.02656	0.0	B	0.01281	0.0	T	0.08086	-1.0739	10	0.37606	T	0.19	-11.9373	7.7864	0.29095	0.189:0.0:0.811:0.0	.	125	Q53H80	AKIR2_HUMAN	L	125	ENSP00000257787:S125L	ENSP00000257787:S125L	S	-	2	0	AKIRIN2	88448062	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.615000	0.67702	2.805000	0.96524	0.655000	0.94253	TCA	AKIRIN2	-	NULL		0.383	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKIRIN2	HGNC	protein_coding	OTTHUMT00000041455.1	G	NM_018064		88391343	-1	no_errors	ENST00000257787	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88391343	G	A	88391343	3	1	15	1	0	0	0	0	1	0	0	0	462	1294	45	1	253	1	AKIRIN2	6	88391343	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	58347919	88391343	82723724	58	2445										
POU3F2	5454	genome.wustl.edu	37	chr6	99283888	99283888	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cctcaaatgccccaagccctCggcccaggagatcacctccc	7	20	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr6:99283888C>A	ENST00000328345.5	+	1	1309	c.1139C>A	c.(1138-1140)tCg>tAg	p.S380*		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	380					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CCCAAGCCCTCGGCCCAGGAG	0.567																																																	0													56	63	61					6																	99283888		2203	4300	6503	SO:0001587	stop_gained	5454			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1139C>A	6.37:g.99283888C>A	ENSP00000329170:p.Ser380*		Q14960|Q86V54|Q9UJL0	Nonsense_Mutation	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.S380*	ENST00000328345.5	37	c.1139	CCDS5040.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.498192	0.97616	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	.	.	.	4.66	4.66	0.58398	.	0.471174	0.17569	U	0.169522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4792	0.84153	0.0:1.0:0.0:0.0	.	.	.	.	X	380;313	.	ENSP00000329170:S380X	S	+	2	0	POU3F2	99390609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.407000	0.81776	0.555000	0.69702	TCG	POU3F2	-	pirsf_Transcription_factor_POU,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.567	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2	C			99283888	1	no_errors	ENST00000328345	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	99283888	C	A	99283888	4	1	15	1	0	0	0	0	0	1	0	0	12299	893	31	3	1141	3	POU3F2	6	99283888	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	10892545	99283888	71831179	59	2446										
KIAA1244	57221	genome.wustl.edu	37	chr6	138583935	138583935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccttgctgggtgccctggatGagctcagccaggggaagggc	17	11	1	1	rs138456342	byFrequency	TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr6:138583935G>A	ENST00000251691.4	+	12	1481	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCCCTGGATGAGCTCAGCCA	0.582																																																	0								G	LYS/GLU	0,4406		0,0,2203	99	89	93		1315	5.6	1	6	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIAA1244	NM_020340.4	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	439/2178	138583935	2,13004	2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1315G>A	6.37:g.138583935G>A	ENSP00000251691:p.Glu439Lys			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.E439K	ENST00000251691.4	37	c.1315	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986048	0.74589	0.0	2.33E-4	ENSG00000112379	ENST00000251691	T	0.04194	3.68	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	M	0.62723	1.935	0.52099	D	0.999949	D	0.69078	0.997	D	0.73380	0.98	T	0.00441	-1.1737	10	0.62326	D	0.03	-34.2594	17.8491	0.88739	0.0:0.0:1.0:0.0	.	439	Q5TH69	BIG3_HUMAN	K	439	ENSP00000251691:E439K	ENSP00000251691:E439K	E	+	1	0	KIAA1244	138625628	1.000000	0.71417	0.959000	0.39883	0.702000	0.40608	4.882000	0.63121	2.639000	0.89480	0.655000	0.94253	GAG	KIAA1244	-	superfamily_ARM-type_fold		0.582	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	G	NM_020340		138583935	1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	0.997	A	A	138583935	G	A	138583935	3	1	15	1	0	0	0	0	1	0	0	0	8237	1291	45	1	1361	1	KIAA1244	6	138583935	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	39300047	138583935	32531132	60	2447										
NUDT1	4521	genome.wustl.edu	37	chr7	2284330	2284330	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gctttgggggcaaagtgcaaGaaggagagaccatcgaggat	16	6	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:2284330G>C	ENST00000397046.1	+	3	218	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q	NUDT1_ENST00000397048.1_Missense_Mutation_p.E64Q|NUDT1_ENST00000339737.2_Missense_Mutation_p.E41Q|NUDT1_ENST00000343985.4_Missense_Mutation_p.E64Q|FTSJ2_ENST00000486040.1_5'Flank|NUDT1_ENST00000397049.1_Missense_Mutation_p.E64Q|FTSJ2_ENST00000242257.8_5'Flank|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000356714.1_Missense_Mutation_p.E41Q	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	82					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		CAAAGTGCAAGAAGGAGAGAC	0.617								Modulation of nucleotide pools																																									0													43	43	43					7																	2284330		2203	4300	6503	SO:0001583	missense	4521			D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"Nudix motif containing"	8048	protein-coding gene	gene with protein product	"mutT human homolog 1", "nudix motif 1", "8-oxo-7,8-dihydrodeoxyguanosine triphosphatase", "8-oxo-dGTPase", "7,8-dihydro-8-oxoguanine triphosphatase", "8-oxo-7,8-dihydroguanosine triphosphatase", "nucleoside diphosphate-linked moiety X-type motif 1"	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.121G>C	7.37:g.2284330G>C	ENSP00000380239:p.Glu41Gln		A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase	p.E64Q	ENST00000397046.1	37	c.190	CCDS5330.1	7	.	.	.	.	.	.	.	.	.	.	G	6.437	0.448849	0.12223	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04;3.04	3.8	3.8	0.43715	NUDIX hydrolase (1);NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.792616	0.11873	N	0.521203	T	0.06462	0.0166	N	0.21545	0.675	0.26010	N	0.982002	P	0.37573	0.6	B	0.39771	0.309	T	0.31668	-0.9935	10	0.25106	T	0.35	-4.6872	6.5607	0.22485	0.1075:0.2567:0.6358:0.0	.	82	P36639	8ODP_HUMAN	Q	41;64;41;64;64;41	ENSP00000349148:E41Q;ENSP00000380242:E64Q;ENSP00000380239:E41Q;ENSP00000380241:E64Q;ENSP00000339503:E64Q;ENSP00000343439:E41Q	ENSP00000343439:E41Q	E	+	1	0	NUDT1	2250856	0.867000	0.29959	0.926000	0.36857	0.600000	0.36913	0.747000	0.26290	1.816000	0.52996	0.462000	0.41574	GAA	NUDT1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase		0.617	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT1	HGNC	protein_coding	OTTHUMT00000206922.1	G	NM_002452		2284330	1	no_errors	ENST00000343985	ensembl	human	known	70_37	missense	SNP	0.968	C	C	2284330	G	C	2284330	3	2	15	1	0	0	0	0	1	0	0	0	10749	943	33	1	196	1	NUDT1	7	2284330	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		2284330	156854333	61	2448										
NFE2L3	9603	genome.wustl.edu	37	chr7	26224536	26224536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gaagacaactttgatccaatCgatgtttctcagctttttga	7	8	1	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:26224536C>G	ENST00000056233.3	+	4	1477	c.1218C>G	c.(1216-1218)atC>atG	p.I406M		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	406					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTGATCCAATCGATGTTTCTC	0.363																																																	0													96	102	100					7																	26224536		2203	4299	6502	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1218C>G	7.37:g.26224536C>G	ENSP00000056233:p.Ile406Met		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.I406M	ENST00000056233.3	37	c.1218	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504473	0.00992	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.31247	1.5	5.23	3.34	0.38264	.	0.635019	0.17304	N	0.179156	T	0.10637	0.0260	N	0.02736	-0.51	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.21793	-1.0235	10	0.24483	T	0.36	0.087	3.2009	0.06649	0.1619:0.1408:0.5629:0.1344	.	406	Q9Y4A8	NF2L3_HUMAN	M	406;112	ENSP00000056233:I406M	ENSP00000056233:I406M	I	+	3	3	NFE2L3	26191061	0.852000	0.29690	0.005000	0.12908	0.040000	0.13550	0.306000	0.19279	0.642000	0.30620	-0.340000	0.08031	ATC	NFE2L3	-	NULL		0.363	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	C			26224536	1	no_errors	ENST00000056233	ensembl	human	known	70_37	missense	SNP	0.153	G	G	26224536	C	G	26224536	3	3	15	1	0	0	0	0	1	0	0	0	10393	874	31	1	1232	1	NFE2L3	7	26224536	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	23940206	26224536	132914127	62	2449										
ZAN	7455	genome.wustl.edu	37	chr7	100355923	100355923	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tctcagtgtgggacacacacCgtgtgccagcttaagaatgg	12	10	1	1	rs370689057		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:100355923C>T	ENST00000348028.3	+	0	3573				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGACACACACCGTGTGCCAGC	0.622																																																	0								C	,	0,4230		0,0,2115	42	46	44		3408,3408	-8.4	0	7		44	1,8447		0,1,4223	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,1,6338	TT,TC,CC		0.0118,0.0,0.0079	,	1136/2813,1136/2722	100355923	1,12677	2115	4224	6339			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100355923C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.T1136	ENST00000348028.3	37	c.3408		7																																																																																			ZAN	-	smart_VWC_out		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100355923	1	no_errors	ENST00000546292	ensembl	human	known	70_37	silent	SNP	0.000	T	T	100355923	C	T	100355923	1	4	15	0	1	0	0	0	0	0	0	0	17544	639	23	2		2	ZAN	7	100355923	RNA	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	74131387	100355923	58782740	63	2450										
SRRT	51593	genome.wustl.edu	37	chr7	100485384	100485384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagagaaaattgaggaagtgAaaaaggaagtcgcgtttttt	12	3	0	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:100485384A>G	ENST00000347433.4	+	17	2388	c.2230A>G	c.(2230-2232)Aaa>Gaa	p.K744E	SRRT_ENST00000388793.4_Missense_Mutation_p.K743E|SRRT_ENST00000432932.1_Missense_Mutation_p.K743E|SRRT_ENST00000457580.2_Missense_Mutation_p.K744E			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	744				K -> R (in Ref. 3; CAB46374). {ECO:0000305}.	cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGAGGAAGTGAAAAAGGAAGT	0.522																																																	0													114	121	119					7																	100485384		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2230A>G	7.37:g.100485384A>G	ENSP00000314491:p.Lys744Glu		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.K743E	ENST00000347433.4	37	c.2227	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247219	0.59103	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764;ENST00000445337	.	.	.	4.85	4.85	0.62838	Arsenite-resistance protein 2 (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.61387	1.9	0.53688	D	0.999976	B;P;P;D	0.56287	0.356;0.928;0.928;0.975	B;P;P;P	0.59012	0.115;0.632;0.632;0.85	T	0.65340	-0.6192	9	0.30854	T	0.27	.	12.388	0.55343	1.0:0.0:0.0:0.0	.	743;743;744;744	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	E	744;743;109;743;744;374;21	.	ENSP00000344670:K109E	K	+	1	0	SRRT	100323320	1.000000	0.71417	0.989000	0.46669	0.456000	0.32438	5.048000	0.64238	2.028000	0.59812	0.260000	0.18958	AAA	SRRT	-	pfam_Arsenite-R_2		0.522	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	A	NM_015908		100485384	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100485384	A	G	100485384	3	3	15	1	0	0	0	0	1	0	0	0	15202	247	9	5	2292	5	SRRT	7	100485384	Missense_Mutation	SNP	A	TCGA-C5-A1M6-01A-11D-A13W-08	129461	100485384	58653279	64	2451										
PRSS37	136242	genome.wustl.edu	37	chr7	141539208	141539208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcccacacaggggttgaagtGagacttgaggtacaccaaat	12	9	0	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:141539208G>A	ENST00000350549.3	-	2	477	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	PRSS37_ENST00000438520.1_Missense_Mutation_p.H36Y	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GGGTTGAAGTGAGACTTGAGG	0.473																																																	0													68	66	66					7																	141539208		2203	4300	6503	SO:0001583	missense	136242				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.106C>T	7.37:g.141539208G>A	ENSP00000297767:p.His36Tyr		B2RPB5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H36Y	ENST00000350549.3	37	c.106	CCDS34764.1	7	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912760	0.52439	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.42131	0.98;0.98	5.48	3.61	0.41365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.189145	0.38381	N	0.001702	T	0.32912	0.0845	N	0.17312	0.475	0.28508	N	0.913707	B;B	0.31227	0.184;0.314	B;B	0.41412	0.356;0.356	T	0.34477	-0.9827	10	0.87932	D	0	.	8.7057	0.34354	0.0:0.3029:0.529:0.168	.	36;36	B7ZMK3;A4D1T9	.;PRS37_HUMAN	Y	36	ENSP00000297767:H36Y;ENSP00000414461:H36Y	ENSP00000297767:H36Y	H	-	1	0	PRSS37	141185677	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.455000	0.35190	0.810000	0.34279	0.585000	0.79938	CAC	PRSS37	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.473	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS37	HGNC	protein_coding	OTTHUMT00000347763.1	G	NM_001008270		141539208	-1	no_errors	ENST00000350549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141539208	G	A	141539208	3	1	15	1	0	0	0	0	1	0	0	0	12653	1290	45	1	617	1	PRSS37	7	141539208	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	41053824	141539208	17599455	65	2452										
SSPO	23145	genome.wustl.edu	37	chr7	149494368	149494368	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttttctccccagattccattCcacagccaagaccctggccc	5	18	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:149494368C>G	ENST00000378016.2	+	0	6839							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGATTCCATTCCACAGCCAAG	0.647																																																	0													71	79	76					7																	149494368		1952	4147	6099			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149494368C>G			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.647	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149494368	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.228	G	G	149494368	C	G	149494368	1	3	15	0	1	0	0	0	0	0	0	0	15219	855	30	1		1	SSPO	7	149494368	RNA	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	7955160	149494368	9644295	66	2453										
PTPRN2	5799	genome.wustl.edu	37	chr7	158109594	158109594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	agcggtaaaagtccattgccGgaaccttctggcaccttcca	9	13	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr7:158109594G>A	ENST00000389418.4	-	3	203	c.194C>T	c.(193-195)cCg>cTg	p.P65L	PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P48L|PTPRN2_ENST00000404321.2_Missense_Mutation_p.P88L|PTPRN2_ENST00000389413.3_Missense_Mutation_p.P65L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	65					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCATTGCCGGAACCTTCTG	0.582																																																	0													73	62	66					7																	158109594		2202	4300	6502	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.194C>T	7.37:g.158109594G>A	ENSP00000374069:p.Pro65Leu		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P88L	ENST00000389418.4	37	c.263	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403532	0.62288	.	.	ENSG00000155093	ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.03094	4.1;4.05;4.11;4.11	4.82	4.82	0.62117	.	.	.	.	.	T	0.12347	0.0300	L	0.39898	1.24	0.50467	D	0.999872	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.997	T	0.07654	-1.0761	9	0.40728	T	0.16	.	17.0825	0.86602	0.0:0.0:1.0:0.0	.	88;65;48;65	Q92932-3;Q92932-2;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	L	65;48;65;88	ENSP00000374064:P65L;ENSP00000374067:P48L;ENSP00000374069:P65L;ENSP00000385464:P88L	ENSP00000374064:P65L	P	-	2	0	PTPRN2	157802355	1.000000	0.71417	0.382000	0.26119	0.293000	0.27360	6.655000	0.74392	2.260000	0.74910	0.644000	0.83932	CCG	PTPRN2	-	NULL		0.582	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			158109594	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.801	A	A	158109594	G	A	158109594	3	1	15	1	0	0	0	0	1	0	0	0	12838	1116	39	2	2937	2	PTPRN2	7	158109594	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	8615226	158109594	1029069	67	2454										
SGK223	157285	genome.wustl.edu	37	chr8	8235381	8235381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cttctcctccgggaagctcaCcgggtggaaggcaatgttcc	12	13	2	0	rs376262756		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr8:8235381C>T	ENST00000520004.1	-	3	802	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SGK223_ENST00000330777.4_Missense_Mutation_p.V180M			Q86YV5	SG223_HUMAN		180							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGAAGCTCACCGGGTGGAAG	0.597																																					GBM(34;731 755 10259 33573 33867)												0								C	MET/VAL	2,3984		0,2,1991	88	96	93		538	-0.2	0	8		93	0,8288		0,0,4144	no	missense	SGK223	NM_001080826.1	21	0,2,6135	TT,TC,CC		0.0,0.0502,0.0163	probably-damaging	180/1403	8235381	2,12272	1993	4144	6137	SO:0001583	missense	157285																														ENST00000520004.1:c.538G>A	8.37:g.8235381C>T	ENSP00000428054:p.Val180Met		Q8N3N5	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,pfscan_Prot_kinase_cat_dom	p.V180M	ENST00000520004.1	37	c.538	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624914	0.14193	5.02E-4	0.0	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.60040	0.22;0.22	4.98	-0.22	0.13130	.	1.655790	0.03709	N	0.249855	T	0.41236	0.1150	L	0.29908	0.895	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.27191	-1.0081	10	0.62326	D	0.03	.	0.7665	0.01016	0.2529:0.3666:0.1385:0.242	.	180	Q86YV5	SG223_HUMAN	M	180	ENSP00000330930:V180M;ENSP00000428054:V180M	ENSP00000330930:V180M	V	-	1	0	AC068353.1	8272791	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.480000	0.02325	-0.159000	0.11021	0.655000	0.94253	GTG	SGK223	-	NULL		0.597	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	C			8235381	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	missense	SNP	0.000	T	T	8235381	C	T	8235381	3	4	15	1	0	0	0	0	1	0	0	0	14240	507	18	4	3686	4	SGK223	8	8235381	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		8235381	138128641	68	2455										
MTMR9	66036	genome.wustl.edu	37	chr8	11180146	11180146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttcaataggtattttcctacGttggaatagatcctctaagt	7	7	2	1	rs375789918		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr8:11180146G>A	ENST00000221086.3	+	10	1972	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.R415H	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	500						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATTTTCCTACGTTGGAATAGA	0.294																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	55	60	59		1499	5.5	1	8		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTMR9	NM_015458.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	500/550	11180146	2,13004	2203	4300	6503	SO:0001583	missense	66036			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1499G>A	8.37:g.11180146G>A	ENSP00000221086:p.Arg500His		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotub-related	p.R500H	ENST00000221086.3	37	c.1499	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478961	0.63849	2.27E-4	1.16E-4	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.91843	-2.92;-2.92	5.46	5.46	0.80206	.	0.050859	0.85682	D	0.000000	D	0.93242	0.7847	M	0.81942	2.565	0.80722	D	1	D	0.60575	0.988	P	0.45232	0.474	D	0.94240	0.7484	10	0.72032	D	0.01	.	18.2845	0.90110	0.0:0.0:1.0:0.0	.	500	Q96QG7	MTMR9_HUMAN	H	500;415	ENSP00000221086:R500H;ENSP00000433239:R415H	ENSP00000221086:R500H	R	+	2	0	MTMR9	11217556	1.000000	0.71417	0.983000	0.44433	0.602000	0.36980	9.247000	0.95444	2.562000	0.86427	0.655000	0.94253	CGT	MTMR9	-	NULL		0.294	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	G	NM_015458		11180146	1	no_errors	ENST00000221086	ensembl	human	known	70_37	missense	SNP	0.999	A	A	11180146	G	A	11180146	3	1	15	1	0	0	0	0	1	0	0	0	9973	1145	40	2	1537	2	MTMR9	8	11180146	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	2944765	11180146	135183876	69	2456										
ENPP2	5168	genome.wustl.edu	37	chr8	120650743	120650743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	taagcagatattgactccaaCggcaaaagtgaacagggata	10	7	0	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr8:120650743C>T	ENST00000075322.6	-	2	116	c.58G>A	c.(58-60)Gtt>Att	p.V20I	ENPP2_ENST00000427067.2_Missense_Mutation_p.V16I|ENPP2_ENST00000259486.6_Missense_Mutation_p.V20I|ENPP2_ENST00000522826.1_Missense_Mutation_p.V20I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	20					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGACTCCAACGGCAAAAGTG	0.388																																					Melanoma(20;305 879 2501 4818 31020)												0													138	139	138					8																	120650743		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.58G>A	8.37:g.120650743C>T	ENSP00000075322:p.Val20Ile		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.V20I	ENST00000075322.6	37	c.58	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209991	0.01555	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.59;-0.58	6.17	-7.21	0.01490	.	1.210850	0.05534	N	0.564446	T	0.35856	0.0946	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.42531	-0.9446	10	0.02654	T	1	.	6.2403	0.20787	0.099:0.4946:0.1021:0.3043	.	20;20;20	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	I	20;16;20;20;20	ENSP00000259486:V20I;ENSP00000403315:V16I;ENSP00000428291:V20I;ENSP00000075322:V20I;ENSP00000428304:V20I	ENSP00000075322:V20I	V	-	1	0	ENPP2	120719924	0.327000	0.24678	0.000000	0.03702	0.203000	0.24098	-0.378000	0.07446	-1.469000	0.01890	-0.940000	0.02684	GTT	ENPP2	-	NULL		0.388	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120650743	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	0.010	T	T	120650743	C	T	120650743	3	4	15	1	0	0	0	0	1	0	0	0	5142	536	19	2	2868	2	ENPP2	8	120650743	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	109470597	120650743	25713279	70	2457										
ATAD2	29028	genome.wustl.edu	37	chr8	124359381	124359381	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tctgcatgtggaaatactctCtgcagggcttctaaaatctt	8	9	4	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr8:124359381C>T	ENST00000287394.5	-	16	2270	c.2163G>A	c.(2161-2163)caG>caA	p.Q721Q	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Silent_p.Q39Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	721					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAATACTCTCTGCAGGGCTT	0.403																																																	0													109	110	109					8																	124359381		2203	4300	6503	SO:0001819	synonymous_variant	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2163G>A	8.37:g.124359381C>T			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q721	ENST00000287394.5	37	c.2163	CCDS6343.1	8																																																																																			ATAD2	-	NULL		0.403	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124359381	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	silent	SNP	0.992	T	T	124359381	C	T	124359381	2	4	15	1	0	0	0	0	0	0	0	1	1072	912	32	1		1	ATAD2	8	124359381	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	3708638	124359381	22004641	71	2458										
FOXD4	2298	genome.wustl.edu	37	chr9	117888	117888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggtgccaaactctgaggggtCgctcgggccgccgccgccct	15	16	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr9:117888C>T	ENST00000382500.2	-	1	529	c.232G>A	c.(232-234)Gac>Aac	p.D78N		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	78					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTGAGGGGTCGCTCGGGCCG	0.711																																																	0													37	63	54					9																	117888		2193	4290	6483	SO:0001583	missense	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.232G>A	9.37:g.117888C>T	ENSP00000371940:p.Asp78Asn		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D78N	ENST00000382500.2	37	c.232	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	8.141	0.785271	0.16189	.	.	ENSG00000170122	ENST00000382500	D	0.94687	-3.49	2.31	-1.23	0.09465	.	1.225120	0.06524	N	0.740258	D	0.84070	0.5391	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.71672	-0.4522	10	0.22109	T	0.4	.	3.6133	0.08069	0.1915:0.5523:0.0:0.2562	.	78	Q12950	FOXD4_HUMAN	N	78	ENSP00000371940:D78N	ENSP00000371940:D78N	D	-	1	0	FOXD4	107888	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.575000	0.02131	-0.503000	0.06586	0.291000	0.19559	GAC	FOXD4	-	NULL		0.711	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	C	NM_207305		117888	-1	no_errors	ENST00000382500	ensembl	human	known	70_37	missense	SNP	0.001	T	T	117888	C	T	117888	3	4	15	1	0	0	0	0	1	0	0	0	6017	884	31	1	1091	1	FOXD4	9	117888	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		117888	141095543	72	2459										
ZFAND5	7763	genome.wustl.edu	37	chr9	74971875	74971875	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccaactttctttctgcacatGaaacatctgtttttctttgg	5	10	4	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr9:74971875G>T	ENST00000237937.3	-	5	1022	c.465C>A	c.(463-465)ttC>ttA	p.F155L	ZFAND5_ENST00000343431.2_Missense_Mutation_p.F155L|ZFAND5_ENST00000376960.4_Missense_Mutation_p.F155L|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.F155L	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	155					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTCTGCACATGAAACATCTGT	0.408																																																	0													139	121	127					9																	74971875		2203	4299	6502	SO:0001583	missense	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.465C>A	9.37:g.74971875G>T	ENSP00000237937:p.Phe155Leu		A8K484	Missense_Mutation	SNP	pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.F155L	ENST00000237937.3	37	c.465	CCDS6642.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639992	0.87760	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.17	3.27	0.37495	Zinc finger, AN1-type (4);	.	.	.	.	T	0.52821	0.1758	L	0.49126	1.545	0.53688	D	0.999977	D	0.76494	0.999	D	0.74023	0.982	T	0.44711	-0.9310	9	0.42905	T	0.14	-3.671	8.5736	0.33585	0.3699:0.0:0.6301:0.0	.	155	O76080	ZFAN5_HUMAN	L	155;155;155;155;207	ENSP00000237937:F155L;ENSP00000366159:F155L;ENSP00000366161:F155L;ENSP00000350586:F155L	ENSP00000237937:F155L	F	-	3	2	ZFAND5	74161695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.770000	0.26618	0.428000	0.26173	0.655000	0.94253	TTC	ZFAND5	-	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1		0.408	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND5	HGNC	protein_coding	OTTHUMT00000052644.1	G			74971875	-1	no_errors	ENST00000237937	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74971875	G	T	74971875	3	4	15	1	0	0	0	0	1	0	0	0	17660	1281	45	3	184	3	ZFAND5	9	74971875	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	74853987	74971875	66241556	73	2460										
FLJ46321	389763	genome.wustl.edu	37	chr9	84608577	84608577	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	caagaaaagcaggggaccctGagaagagaattctctgatac	11	8	1	4	rs142745921	byFrequency	TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr9:84608577G>C	ENST00000344803.2	+	4	3239	c.3192G>C	c.(3190-3192)ctG>ctC	p.L1064L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1064					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGGGACCCTGAGAAGAGAAT	0.458																																																	0													87	90	89					9																	84608577		1851	4096	5947	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3192G>C	9.37:g.84608577G>C				Silent	SNP	NULL	p.L1064	ENST00000344803.2	37	c.3192	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84608577	1	no_errors	ENST00000344803	ensembl	human	known	70_37	silent	SNP	0.000	C	C	84608577	G	C	84608577	2	2	15	1	0	0	0	0	0	0	0	1	5950	1277	45	1		1	FLJ46321	9	84608577	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	9636702	84608577	56604854	74	2461										
OR1N1	138883	genome.wustl.edu	37	chr9	125288641	125288641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gttgctgtcaccacatctaaGaggaaacaatactcctgtga	8	10	2	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr9:125288641G>A	ENST00000304880.2	-	1	931	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCACATCTAAGAGGAAACAAT	0.443																																																	0													60	65	63					9																	125288641		2203	4300	6503	SO:0001583	missense	138883			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.932C>T	9.37:g.125288641G>A	ENSP00000306974:p.Ser311Phe		A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S311F	ENST00000304880.2	37	c.932	CCDS6844.1	9	.	.	.	.	.	.	.	.	.	.	G	8.517	0.867874	0.17250	.	.	ENSG00000171505	ENST00000304880	T	0.11495	2.77	2.13	1.23	0.21249	.	.	.	.	.	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36016	-0.9765	9	0.87932	D	0	.	4.7796	0.13195	0.1835:0.0:0.8165:0.0	.	311	Q8NGS0	OR1N1_HUMAN	F	311	ENSP00000306974:S311F	ENSP00000306974:S311F	S	-	2	0	OR1N1	124328462	0.046000	0.20272	0.195000	0.23364	0.059000	0.15707	-0.193000	0.09573	0.506000	0.28125	0.447000	0.29281	TCT	OR1N1	-	NULL		0.443	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1	G			125288641	-1	no_errors	ENST00000304880	ensembl	human	known	70_37	missense	SNP	0.053	A	A	125288641	G	A	125288641	3	1	15	1	0	0	0	0	1	0	0	0	10993	942	33	1	7	1	OR1N1	9	125288641	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	40680064	125288641	15924790	75	2462										
ITGA8	8516	genome.wustl.edu	37	chr10	15649714	15649714	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	atcctggcactggtgggattTctgcctttttatcacaagag	10	9	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr10:15649714T>A	ENST00000378076.3	-	17	2079	c.1726A>T	c.(1726-1728)Aaa>Taa	p.K576*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	576					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGTGGGATTTCTGCCTTTTT	0.433																																																	0													199	205	203					10																	15649714		2203	4300	6503	SO:0001587	stop_gained	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1726A>T	10.37:g.15649714T>A	ENSP00000367316:p.Lys576*		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.K576*	ENST00000378076.3	37	c.1726	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	T	37	6.542247	0.97650	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.84	1.86	0.25419	.	0.614382	0.19581	N	0.110845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5977	0.39584	0.0:0.0649:0.2326:0.7024	.	.	.	.	X	576;561	.	ENSP00000367316:K576X	K	-	1	0	ITGA8	15689720	0.999000	0.42202	0.043000	0.18650	0.023000	0.10783	2.775000	0.47702	0.452000	0.26830	0.482000	0.46254	AAA	ITGA8	-	pfam_Integrin_alpha-2		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	T	NM_003638		15649714	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	nonsense	SNP	0.007	A	A	15649714	T	A	15649714	4	1	15	1	0	0	0	0	0	1	0	0	7902	1792	62	5	1521	5	ITGA8	10	15649714	Nonsense_Mutation	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08		15649714	119885033	76	2463										
ANKRD26	22852	genome.wustl.edu	37	chr10	27382726	27382726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cacaggccaaatgtagagccGtcctatgagagtgacaggac	12	10	0	3	rs373943537		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr10:27382726G>A	ENST00000376087.4	-	2	410	c.245C>T	c.(244-246)aCg>aTg	p.T82M	ANKRD26_ENST00000436985.2_Missense_Mutation_p.T82M	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	82					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGTAGAGCCGTCCTATGAGA	0.398																																																	0								G	MET/THR	0,3948		0,0,1974	82	77	78		245	3.2	0.1	10		78	1,8431		0,1,4215	no	missense	ANKRD26	NM_014915.2	81	0,1,6189	AA,AG,GG		0.0119,0.0,0.0081	probably-damaging	82/1711	27382726	1,12379	1974	4216	6190	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.245C>T	10.37:g.27382726G>A	ENSP00000365255:p.Thr82Met		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T82M	ENST00000376087.4	37	c.245	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423769	0.62733	0.0	1.19E-4	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.63417	-0.04;-0.04	4.16	3.24	0.37175	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.82628	0.5078	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	D	0.85663	0.1290	9	0.87932	D	0	.	11.137	0.48381	0.0:0.0:0.8151:0.1849	.	82;82	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	M	82	ENSP00000365255:T82M;ENSP00000405112:T82M	ENSP00000365255:T82M	T	-	2	0	ANKRD26	27422732	1.000000	0.71417	0.140000	0.22221	0.156000	0.22039	5.711000	0.68400	0.940000	0.37473	0.491000	0.48974	ACG	ANKRD26	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.398	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	G			27382726	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.996	A	A	27382726	G	A	27382726	3	1	15	1	0	0	0	0	1	0	0	0	654	1145	40	2	5019	2	ANKRD26	10	27382726	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	11733012	27382726	108152021	77	2464										
FRMPD2	143162	genome.wustl.edu	37	chr10	49459669	49459669	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	caggagggaccagatttcctCctcagacagagcttcacccc	9	15	2	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr10:49459669C>A	ENST00000374201.3	-	2	393	c.91G>T	c.(91-93)Gag>Tag	p.E31*	FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.E22*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.E29*	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	31	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGATTTCCTCCTCAGACAGA	0.577																																																	0													84	73	77					10																	49459669		2203	4300	6503	SO:0001587	stop_gained	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.91G>T	10.37:g.49459669C>A	ENSP00000363317:p.Glu31*		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Nonsense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.E31*	ENST00000374201.3	37	c.91	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.577814	0.98870	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.644	0.68745	0.0:1.0:0.0:0.0	.	.	.	.	X	31;29;22	.	ENSP00000307079:E29X	E	-	1	0	FRMPD2	49129675	0.983000	0.35010	0.941000	0.38009	0.941000	0.58515	2.389000	0.44407	2.551000	0.86045	0.563000	0.77884	GAG	FRMPD2	-	smart_KIND		0.577	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49459669	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	49459669	C	A	49459669	4	1	15	1	0	0	0	0	0	1	0	0	6076	864	30	3	3950	3	FRMPD2	10	49459669	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	22076943	49459669	86075078	78	2465										
CPN1	1369	genome.wustl.edu	37	chr10	101835718	101835718	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gttcatggatggcaggatgtGaatgcgcgtgtcctggatga	16	6	1	2	rs374761550		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr10:101835718G>C	ENST00000370418.3	-	2	621	c.370C>G	c.(370-372)Cac>Gac	p.H124D		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	124	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GGCAGGATGTGAATGCGCGTG	0.607																																																	0													132	108	116					10																	101835718		2203	4300	6503	SO:0001583	missense	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.370C>G	10.37:g.101835718G>C	ENSP00000359446:p.His124Asp		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.H124D	ENST00000370418.3	37	c.370	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298637	0.81025	.	.	ENSG00000120054	ENST00000370418	T	0.11821	2.74	5.74	5.74	0.90152	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.54050	-0.8351	10	0.87932	D	0	-31.9828	19.9352	0.97137	0.0:0.0:1.0:0.0	.	124	P15169	CBPN_HUMAN	D	124	ENSP00000359446:H124D	ENSP00000359446:H124D	H	-	1	0	CPN1	101825708	1.000000	0.71417	0.997000	0.53966	0.324000	0.28378	9.866000	0.99616	2.724000	0.93272	0.655000	0.94253	CAC	CPN1	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.607	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	G	NM_001308		101835718	-1	no_errors	ENST00000370418	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101835718	G	C	101835718	3	2	15	1	0	0	0	0	1	0	0	0	3814	1290	45	1	1038	1	CPN1	10	101835718	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	52376049	101835718	33699029	79	2466										
PRAP1	118471	genome.wustl.edu	37	chr10	135165615	135165615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gaccaccgaggagaagccacGaggtcagggcaggggcccca	16	13	1	1	rs140360205		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr10:135165615G>A	ENST00000433452.2	+	4	505	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	PRAP1_ENST00000423766.1_Missense_Mutation_p.R79Q|ZNF511_ENST00000368554.4_Missense_Mutation_p.R237Q|PRAP1_ENST00000458230.1_Missense_Mutation_p.R78Q|PRAP1_ENST00000463201.1_3'UTR|RP11-122K13.7_ENST00000452591.1_RNA			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	78						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GAGAAGCCACGAGGTCAGGGC	0.637																																																	0									GLN/ARG,GLN/ARG	1,4405		0,1,2202	68	69	69		233,233	1.3	0	10	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	PRAP1	NM_001145201.1,NM_145202.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	78/143,78/152	135165615	1,13005	2203	4300	6503	SO:0001583	missense	118472			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.233G>A	10.37:g.135165615G>A	ENSP00000416126:p.Arg78Gln		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.R237Q	ENST00000433452.2	37	c.710	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	c	6.488	0.458171	0.12342	2.27E-4	0.0	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230;ENST00000415747	T;T;T;T	0.31510	1.51;1.5;1.49;1.62	3.24	1.29	0.21616	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.30880	-0.9963	9	0.18276	T	0.48	-1.1804	1.4778	0.02430	0.2546:0.44:0.1751:0.1303	.	78;79;78	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	Q	237;78;79;78;78	ENSP00000357542:R237Q;ENSP00000416126:R78Q;ENSP00000409495:R79Q;ENSP00000402700:R78Q	ENSP00000403014:R78Q	R	+	2	0	ZNF511;PRAP1	135015605	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	-0.120000	0.10660	0.039000	0.15632	-0.753000	0.03488	CGA	ZNF511	-	NULL		0.637	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	G	NM_145202		135165615	1	no_errors	ENST00000368554	ensembl	human	known	70_37	missense	SNP	0.003	A	A	135165615	G	A	135165615	3	1	15	1	0	0	0	0	1	0	0	0	12468	1058	37	1	247	1	PRAP1	10	135165615	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	33329897	135165615	369132	80	2467										
CTNND1	1500	genome.wustl.edu	37	chr11	57569478	57569478	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gtgcggaagctcaagggcatCccagtactggtgggattgtt	15	8	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr11:57569478C>T	ENST00000399050.4	+	7	1766	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	CTNND1_ENST00000529873.1_Silent_p.I356I|CTNND1_ENST00000525902.1_Silent_p.I87I|CTNND1_ENST00000530748.1_Silent_p.I356I|CTNND1_ENST00000532463.1_Silent_p.I309I|CTNND1_ENST00000529986.1_Silent_p.I309I|CTNND1_ENST00000361796.4_Silent_p.I410I|CTNND1_ENST00000361391.6_Silent_p.I410I|CTNND1_ENST00000531014.1_Silent_p.I87I|CTNND1_ENST00000527467.1_Silent_p.I87I|CTNND1_ENST00000528232.1_Silent_p.I309I|CTNND1_ENST00000358694.6_Silent_p.I410I|CTNND1_ENST00000399039.4_Silent_p.I410I|CTNND1_ENST00000524630.1_Silent_p.I410I|CTNND1_ENST00000532649.1_Silent_p.I356I|CTNND1_ENST00000526772.1_Silent_p.I87I|CTNND1_ENST00000426142.2_Silent_p.I309I|CTNND1_ENST00000533667.1_Silent_p.I87I|CTNND1_ENST00000415361.2_Silent_p.I309I|CTNND1_ENST00000360682.6_Silent_p.I410I|CTNND1_ENST00000526938.1_Silent_p.I410I|CTNND1_ENST00000528621.1_Silent_p.I356I|CTNND1_ENST00000428599.2_Silent_p.I410I|CTNND1_ENST00000529919.1_Silent_p.I410I|CTNND1_ENST00000532245.1_Silent_p.I309I|CTNND1_ENST00000361332.4_Silent_p.I410I|CTNND1_ENST00000530094.1_Silent_p.I309I|CTNND1_ENST00000534579.1_Silent_p.I356I|CTNND1_ENST00000529526.1_Silent_p.I356I|CTNND1_ENST00000526357.1_Silent_p.I356I|CTNND1_ENST00000532787.1_Silent_p.I309I|CTNND1_ENST00000532844.1_Silent_p.I356I	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	410					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCAAGGGCATCCCAGTACTGG	0.502																																																	0													141	142	142					11																	57569478		1995	4178	6173	SO:0001819	synonymous_variant	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1230C>T	11.37:g.57569478C>T			A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I410	ENST00000399050.4	37	c.1230	CCDS44604.1	11																																																																																			CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.502	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	C	NM_001331		57569478	1	no_errors	ENST00000399050	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57569478	C	T	57569478	2	4	15	1	0	0	0	0	0	0	0	1	4024	845	30	1		1	CTNND1	11	57569478	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		57569478	77437038	81	2468										
WDR74	54663	genome.wustl.edu	37	chr11	62601346	62601346	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aggaggctagtagaggctttGaagggtggcactgcaaccca	15	8	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr11:62601346G>C	ENST00000525239.1	-	10	1376	c.839C>G	c.(838-840)tCa>tGa	p.S280*	WDR74_ENST00000525752.1_Nonsense_Mutation_p.S223*|WDR74_ENST00000529106.1_Nonsense_Mutation_p.S280*|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000541317.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000278856.4_Nonsense_Mutation_p.S280*|WDR74_ENST00000311713.7_Nonsense_Mutation_p.S280*|STX5_ENST00000294179.3_5'Flank|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000394690.1_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	280					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TAGAGGCTTTGAAGGGTGGCA	0.572																																																	0													83	88	86					11																	62601346		2008	4174	6182	SO:0001587	stop_gained	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.839C>G	11.37:g.62601346G>C	ENSP00000432119:p.Ser280*		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S280*	ENST00000525239.1	37	c.839	CCDS44630.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.171662	0.98688	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	.	.	.	5.35	5.35	0.76521	.	0.209896	0.41500	D	0.000870	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-8.1724	14.6026	0.68450	0.0:0.0:1.0:0.0	.	.	.	.	X	280;280;280;280;223	.	ENSP00000278856:S280X	S	-	2	0	WDR74	62357922	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.713000	0.84693	2.503000	0.84419	0.563000	0.77884	TCA	WDR74	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.572	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR74	HGNC	protein_coding	OTTHUMT00000395678.1	G	NM_018093		62601346	-1	no_errors	ENST00000278856	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	62601346	G	C	62601346	4	2	15	1	0	0	0	0	0	1	0	0	17355	1294	45	1	330	1	WDR74	11	62601346	Nonsense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	5031868	62601346	72405170	82	2469										
C2CD3	26005	genome.wustl.edu	37	chr11	73785628	73785628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gaggttggaagcatttcgtcCaaacagaggatacacaccta	10	9	0	1	rs111402521		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr11:73785628C>T	ENST00000334126.7	-	24	4847	c.4621G>A	c.(4621-4623)Gga>Aga	p.G1541R	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1541R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1541					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCATTTCGTCCAAACAGAGGA	0.488																																																	0													39	37	38					11																	73785628		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4621G>A	11.37:g.73785628C>T	ENSP00000334379:p.Gly1541Arg		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G1541R	ENST00000334126.7	37	c.4621		11	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965814	0.18583	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.89270	-2.49;-2.49;-2.49	5.51	4.59	0.56863	.	0.173879	0.50627	D	0.000114	T	0.73860	0.3641	N	0.20401	0.57	0.35676	D	0.813714	P	0.37914	0.611	B	0.35550	0.205	T	0.73107	-0.4087	10	0.07482	T	0.82	-14.1874	4.6015	0.12356	0.0:0.6101:0.1885:0.2014	.	1541	Q4AC94-1	.	R	1541;1541;1522;349	ENSP00000334379:G1541R;ENSP00000323339:G1541R;ENSP00000388750:G349R	ENSP00000323339:G1541R	G	-	1	0	C2CD3	73463276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.473000	0.45145	2.756000	0.94617	0.655000	0.94253	GGA	C2CD3	-	NULL		0.488	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73785628	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73785628	C	T	73785628	3	4	15	1	0	0	0	0	1	0	0	0	2159	603	21	4	1302	4	C2CD3	11	73785628	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	11184282	73785628	61220888	83	2470										
CUL5	8065	genome.wustl.edu	37	chr11	107943062	107943062	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gtgttctctccttccagaatTacatttaatgttttcattga	5	8	2	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr11:107943062T>G	ENST00000393094.2	+	9	1494	c.878T>G	c.(877-879)tTa>tGa	p.L293*		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	293					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTCCAGAATTACATTTAATG	0.333																																																	0													93	90	91					11																	107943062		2201	4298	6499	SO:0001587	stop_gained	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.878T>G	11.37:g.107943062T>G	ENSP00000376808:p.Leu293*		A8K960|O14766|Q9BZC6	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L293*	ENST00000393094.2	37	c.878	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	T	36	5.739049	0.96873	.	.	ENSG00000166266	ENST00000393094	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6417	15.1134	0.72380	0.0:0.0:0.0:1.0	.	.	.	.	X	293	.	ENSP00000376808:L293X	L	+	2	0	CUL5	107448272	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	8.008000	0.88588	1.980000	0.57719	0.533000	0.62120	TTA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.333	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	T			107943062	1	no_errors	ENST00000393094	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	107943062	T	G	107943062	4	3	15	1	0	0	0	0	0	1	0	0	4064	1764	61	5	912	5	CUL5	11	107943062	Nonsense_Mutation	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08	34157434	107943062	27063454	84	2471										
ZNF384	171017	genome.wustl.edu	37	chr12	6776900	6776900	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctaagagctggccaggtgctCcacctggatggtgctggtgg	16	10	0	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:6776900C>A	ENST00000396801.3	-	11	1921	c.1714G>T	c.(1714-1716)Gag>Tag	p.E572*	RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Nonsense_Mutation_p.E456*|ZNF384_ENST00000319770.3_Nonsense_Mutation_p.E495*|ZNF384_ENST00000396795.1_Nonsense_Mutation_p.E511*|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Nonsense_Mutation_p.E572*|ZNF384_ENST00000396799.2_Nonsense_Mutation_p.E511*	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	572					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCCAGGTGCTCCACCTGGATG	0.557			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													157	157	157					12																	6776900		2203	4300	6503	SO:0001587	stop_gained	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1714G>T	12.37:g.6776900C>A	ENSP00000380019:p.Glu572*		O15407|Q7Z722|Q8N938	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E572*	ENST00000396801.3	37	c.1714	CCDS44817.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.414134	0.98269	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	.	.	.	5.83	5.83	0.93111	.	0.111469	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.9262	20.1141	0.97919	0.0:1.0:0.0:0.0	.	.	.	.	X	495;511;572;572;456;511	.	ENSP00000321650:E495X	E	-	1	0	ZNF384	6647161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.390000	0.79816	2.757000	0.94681	0.591000	0.81541	GAG	ZNF384	-	NULL		0.557	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	C			6776900	-1	no_errors	ENST00000361959	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	6776900	C	A	6776900	4	1	15	1	0	0	0	0	0	1	0	0	17905	864	30	3	23	3	ZNF384	12	6776900	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		6776900	127074995	85	2472										
FOXJ2	55810	genome.wustl.edu	37	chr12	8195264	8195264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcctctccagaattcaatacGgcacaacctttctctcaaca	4	15	4	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:8195264G>A	ENST00000162391.3	+	3	1489	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R115Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	115					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AATTCAATACGGCACAACCTT	0.458																																																	0													108	85	93					12																	8195264		2203	4300	6503	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.344G>A	12.37:g.8195264G>A	ENSP00000162391:p.Arg115Gln		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R115Q	ENST00000162391.3	37	c.344	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.403003	0.96030	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.98060	-4.69;-4.69	5.28	5.28	0.74379	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.191486	0.36482	N	0.002570	D	0.99149	0.9706	H	0.96208	3.785	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.99	D	0.99191	1.0870	10	0.87932	D	0	.	16.4458	0.83932	0.0:0.0:1.0:0.0	.	115;115	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	Q	115	ENSP00000162391:R115Q;ENSP00000403411:R115Q	ENSP00000162391:R115Q	R	+	2	0	FOXJ2	8086531	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.384000	0.97219	2.473000	0.83533	0.561000	0.74099	CGG	FOXJ2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.458	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	G	NM_018416		8195264	1	no_errors	ENST00000162391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8195264	G	A	8195264	3	1	15	1	0	0	0	0	1	0	0	0	6030	1116	39	2	350	2	FOXJ2	12	8195264	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	1418364	8195264	125656631	86	2473										
AQP2	359	genome.wustl.edu	37	chr12	50348450	50348450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctctatgaatcctgcccgctCcctggctccagctgtcgtca	8	17	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:50348450C>T	ENST00000199280.3	+	3	648	c.563C>T	c.(562-564)tCc>tTc	p.S188F	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	188					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCTGCCCGCTCCCTGGCTCCA	0.552																																																	0													143	124	131					12																	50348450		2203	4300	6503	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.563C>T	12.37:g.50348450C>T	ENSP00000199280:p.Ser188Phe		Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.S188F	ENST00000199280.3	37	c.563	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	c	29.2	4.982958	0.93044	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.94417	-3.42;0.69	5.3	5.3	0.74995	Aquaporin-like (2);	0.000000	0.64402	D	0.000004	D	0.98717	0.9569	H	0.99770	4.765	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.99320	1.0906	10	0.87932	D	0	-30.9018	16.8254	0.85929	0.0:1.0:0.0:0.0	.	188	P41181	AQP2_HUMAN	F	188;230	ENSP00000199280:S188F;ENSP00000450022:S230F	ENSP00000199280:S188F	S	+	2	0	AQP2	48634717	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.450000	0.80656	2.653000	0.90120	0.556000	0.70494	TCC	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.552	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50348450	1	no_errors	ENST00000199280	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50348450	C	T	50348450	3	4	15	1	0	0	0	0	1	0	0	0	826	855	30	1	573	1	AQP2	12	50348450	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	42153186	50348450	83503445	87	2474										
LETMD1	25875	genome.wustl.edu	37	chr12	51442848	51442848	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttcacctttctccaaaggcaGatgtgaagaacttgatgtct	8	9	3	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:51442848G>A	ENST00000262055.4	+	2	193	c.154G>A	c.(154-156)Gat>Aat	p.D52N	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_Missense_Mutation_p.D52N|LETMD1_ENST00000547008.1_Missense_Mutation_p.D52N|LETMD1_ENST00000550929.1_De_novo_Start_OutOfFrame|LETMD1_ENST00000418425.2_Missense_Mutation_p.D52N|LETMD1_ENST00000552739.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	52	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TCCAAAGGCAGATGTGAAGAA	0.448																																																	0													117	106	109					12																	51442848		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.154G>A	12.37:g.51442848G>A	ENSP00000262055:p.Asp52Asn		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.D52N	ENST00000262055.4	37	c.154	CCDS8806.1	12	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732113	0.48939	.	.	ENSG00000050426	ENST00000551477;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	T;T;T;T;T;T;T;T;T;T	0.48201	0.85;0.86;0.88;0.82;0.84;0.83;0.85;0.88;0.87;0.84	4.86	3.97	0.46021	.	0.332477	0.31566	N	0.007440	T	0.29126	0.0724	N	0.24115	0.695	0.30388	N	0.781291	B;B;B;B;B;B	0.21753	0.033;0.006;0.06;0.006;0.001;0.06	B;B;B;B;B;B	0.22601	0.04;0.012;0.027;0.008;0.004;0.027	T	0.18587	-1.0332	10	0.18276	T	0.48	-4.4582	7.4592	0.27285	0.1906:0.0:0.8094:0.0	.	52;52;52;52;52;52	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.;.;.;.;.;LTMD1_HUMAN	N	19;52;52;52;52;52;52;59;52;52;52	ENSP00000446862:D19N;ENSP00000262055:D52N;ENSP00000448110:D52N;ENSP00000449896:D52N;ENSP00000450275:D52N;ENSP00000447166:D52N;ENSP00000369466:D52N;ENSP00000450082:D59N;ENSP00000389903:D52N;ENSP00000447419:D52N	ENSP00000262055:D52N	D	+	1	0	LETMD1	49729115	1.000000	0.71417	0.913000	0.36048	0.965000	0.64279	2.998000	0.49465	1.406000	0.46857	0.655000	0.94253	GAT	LETMD1	-	NULL		0.448	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	G	NM_015416		51442848	1	no_errors	ENST00000262055	ensembl	human	known	70_37	missense	SNP	0.907	A	A	51442848	G	A	51442848	3	1	15	1	0	0	0	0	1	0	0	0	8756	942	33	1	160	1	LETMD1	12	51442848	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	1094398	51442848	82409047	88	2475										
KRT6B	3854	genome.wustl.edu	37	chr12	52843273	52843273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctttgtctggtaccaggactCagcctcagccctgctcctct	8	16	4	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:52843273C>G	ENST00000252252.3	-	5	1104	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	353	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TACCAGGACTCAGCCTCAGCC	0.562																																																	0													213	189	197					12																	52843273		2203	4300	6503	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1057G>C	12.37:g.52843273C>G	ENSP00000252252:p.Glu353Gln		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E353Q	ENST00000252252.3	37	c.1057	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867659	0.51588	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.93906	-3.31	3.05	1.11	0.20524	Filament (1);	0.000000	0.64402	D	0.000011	D	0.96116	0.8734	M	0.92691	3.335	0.40057	D	0.975851	D	0.60575	0.988	P	0.61722	0.893	D	0.94735	0.7913	10	0.87932	D	0	.	7.6473	0.28327	0.162:0.7469:0.0:0.0911	.	353	P04259	K2C6B_HUMAN	Q	353;313	ENSP00000252252:E353Q	ENSP00000252252:E353Q	E	-	1	0	KRT6B	51129540	0.984000	0.35163	0.945000	0.38365	0.575000	0.36095	2.872000	0.48467	0.313000	0.23062	0.298000	0.19748	GAG	KRT6B	-	pfam_F,superfamily_Prefoldin		0.562	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	C	NM_005555		52843273	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	0.996	G	G	52843273	C	G	52843273	3	3	15	1	0	0	0	0	1	0	0	0	8501	835	29	1	657	1	KRT6B	12	52843273	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	1400425	52843273	81008622	89	2476										
C12orf26	84190	genome.wustl.edu	37	chr12	82793053	82793053	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	atacccaacagagaaacatcTgaagccaataaagagagaag	8	8	1	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:82793053T>A	ENST00000248306.3	+	4	1080	c.1011T>A	c.(1009-1011)tcT>tcA	p.S337S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	337							methyltransferase activity (GO:0008168)										GAGAAACATCTGAAGCCAATA	0.328																																																	0													49	51	51					12																	82793053		2203	4296	6499	SO:0001819	synonymous_variant	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1011T>A	12.37:g.82793053T>A			Q9H5Y3	Silent	SNP	NULL	p.S337	ENST00000248306.3	37	c.1011	CCDS9024.1	12																																																																																			METTL25	-	NULL		0.328	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	T	NM_032230		82793053	1	no_errors	ENST00000248306	ensembl	human	known	70_37	silent	SNP	0.939	A	A	82793053	T	A	82793053	2	1	15	1	0	0	0	0	0	0	0	1	1683	1567	55	5		5	C12orf26	12	82793053	Silent	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08	29949780	82793053	51058842	90	2477										
CHST11	50515	genome.wustl.edu	37	chr12	105151050	105151050	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccagaaatcaaccaccgcttGaaaagctacatgaagttcct	6	12	1	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:105151050G>C	ENST00000303694.5	+	3	967	c.528G>C	c.(526-528)ttG>ttC	p.L176F	CHST11_ENST00000549260.1_Missense_Mutation_p.L171F	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	176					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ACCACCGCTTGAAAAGCTACA	0.547																																																	0													75	68	70					12																	105151050		2203	4300	6503	SO:0001583	missense	50515			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.528G>C	12.37:g.105151050G>C	ENSP00000305725:p.Leu176Phe		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L176F	ENST00000303694.5	37	c.528	CCDS9099.1	12	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292155	0.59976	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.77489	-1.1;-1.1;-1.1	5.42	3.52	0.40303	.	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91362	0.5112	10	0.59425	D	0.04	-15.1687	15.5233	0.75881	0.0:0.2626:0.7374:0.0	.	171;176	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	F	171;176;136	ENSP00000450004:L171F;ENSP00000305725:L176F;ENSP00000449095:L136F	ENSP00000305725:L176F	L	+	3	2	CHST11	103675180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.888000	0.39708	0.613000	0.30089	0.655000	0.94253	TTG	CHST11	-	pfam_Sulfotransferase		0.547	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	HGNC	protein_coding	OTTHUMT00000405960.2	G	NM_018413		105151050	1	no_errors	ENST00000303694	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105151050	G	C	105151050	3	2	15	1	0	0	0	0	1	0	0	0	3404	1281	45	1	538	1	CHST11	12	105151050	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	22357997	105151050	28700845	91	2478										
KIAA1033	23325	genome.wustl.edu	37	chr12	105538628	105538628	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggttatgacagaggcacatcTtcccagtcagactttggaac	10	10	2	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr12:105538628T>A	ENST00000332180.5	+	22	2399	c.2312T>A	c.(2311-2313)cTt>cAt	p.L771H		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGGCACATCTTCCCAGTCAG	0.383																																																	0													153	145	148					12																	105538628		1913	4130	6043	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2312T>A	12.37:g.105538628T>A	ENSP00000328062:p.Leu771His			Missense_Mutation	SNP	NULL	p.L771H	ENST00000332180.5	37	c.2312	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788791	0.90367	.	.	ENSG00000136051	ENST00000332180	T	0.64438	-0.1	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86111	0.1562	10	0.87932	D	0	.	15.9674	0.79985	0.0:0.0:0.0:1.0	.	772;771	B7ZKT9;Q2M389	.;WASH7_HUMAN	H	771	ENSP00000328062:L771H	ENSP00000328062:L771H	L	+	2	0	KIAA1033	104062758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.170000	0.68504	0.477000	0.44152	CTT	KIAA1033	-	NULL		0.383	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	T	NM_015275		105538628	1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105538628	T	A	105538628	3	1	15	1	0	0	0	0	1	0	0	0	8226	1609	56	5	2398	5	KIAA1033	12	105538628	Missense_Mutation	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08	387578	105538628	28313267	92	2479										
FGF9	2254	genome.wustl.edu	37	chr13	22246199	22246199	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gggggctccccaggggacccGcagtcacggacttggatcat	15	13	2	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr13:22246199G>C	ENST00000382353.5	+	1	678	c.148G>C	c.(148-150)Gca>Cca	p.A50P		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	50					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CAGGGGACCCGCAGTCACGGA	0.557																																					Melanoma(195;1939 2127 12623 13963 52730)												0													62	69	67					13																	22246199		2203	4300	6503	SO:0001583	missense	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.148G>C	13.37:g.22246199G>C	ENSP00000371790:p.Ala50Pro		A8K427|Q3SY32	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.A50P	ENST00000382353.5	37	c.148	CCDS9298.1	13	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297539	0.40694	.	.	ENSG00000102678	ENST00000382353	T	0.76060	-0.99	5.28	4.41	0.53225	.	0.070988	0.64402	N	0.000018	T	0.58250	0.2109	N	0.14661	0.345	0.49130	D	0.999758	P	0.51933	0.949	B	0.40477	0.33	T	0.60495	-0.7252	10	0.36615	T	0.2	.	14.9825	0.71321	0.0:0.0:0.8563:0.1437	.	50	P31371	FGF9_HUMAN	P	50	ENSP00000371790:A50P	ENSP00000371790:A50P	A	+	1	0	FGF9	21144199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.579000	0.60936	1.172000	0.42781	0.561000	0.74099	GCA	FGF9	-	NULL		0.557	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	G			22246199	1	no_errors	ENST00000382353	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22246199	G	C	22246199	3	2	15	1	0	0	0	0	1	0	0	0	5877	1087	38	2	150	2	FGF9	13	22246199	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		22246199	92923679	93	2480										
LAMP1	3916	genome.wustl.edu	37	chr13	113975993	113975993	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcgttttcagtcaatatattCaaagtgtgggtccaggcttt	10	7	3	0	rs372370740		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr13:113975993C>G	ENST00000332556.4	+	8	1259	c.1065C>G	c.(1063-1065)ttC>ttG	p.F355L	LAMP1_ENST00000397181.3_Missense_Mutation_p.F302L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	355	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TCAATATATTCAAAGTGTGGG	0.587																																																	0													98	108	105					13																	113975993		2126	4216	6342	SO:0001583	missense	3916			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1065C>G	13.37:g.113975993C>G	ENSP00000333298:p.Phe355Leu		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.F355L	ENST00000332556.4	37	c.1065	CCDS41909.1	13	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291269	0.59976	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.34275	1.37;1.37	5.27	5.27	0.74061	.	0.094831	0.85682	D	0.000000	T	0.57975	0.2090	M	0.85197	2.74	0.54753	D	0.999988	P;P	0.45531	0.798;0.86	P;P	0.56127	0.552;0.792	T	0.61734	-0.7002	10	0.51188	T	0.08	-34.5392	12.699	0.57020	0.0:0.9142:0.0:0.0858	.	302;355	B4DWL3;P11279	.;LAMP1_HUMAN	L	355;302	ENSP00000333298:F355L;ENSP00000415354:F302L	ENSP00000333298:F355L	F	+	3	2	LAMP1	113023994	0.376000	0.25098	0.149000	0.22428	0.166000	0.22503	0.915000	0.28638	2.471000	0.83476	0.549000	0.68633	TTC	LAMP1	-	pfam_Lysosome-assoc_membr_glycop		0.587	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP1	HGNC	protein_coding	OTTHUMT00000045876.2	C			113975993	1	no_errors	ENST00000332556	ensembl	human	known	70_37	missense	SNP	0.983	G	G	113975993	C	G	113975993	3	3	15	1	0	0	0	0	1	0	0	0	8637	825	29	1	1095	1	LAMP1	13	113975993	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	91729794	113975993	1193885	94	2481										
CPNE6	9362	genome.wustl.edu	37	chr14	24545480	24545480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcagtgggaggcatctgccaGgactatgacaggtaggagag	17	7	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr14:24545480G>A	ENST00000397016.2	+	12	1358	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	CPNE6_ENST00000216775.2_Silent_p.Q349Q|CPNE6_ENST00000537691.1_Silent_p.Q404Q	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	349	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCATCTGCCAGGACTATGACA	0.622																																																	0													76	76	76					14																	24545480		2203	4300	6503	SO:0001819	synonymous_variant	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1047G>A	14.37:g.24545480G>A			B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.Q404	ENST00000397016.2	37	c.1212	CCDS9607.1	14																																																																																			CPNE6	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A		0.622	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5	G			24545480	1	no_errors	ENST00000537691	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24545480	G	A	24545480	2	1	15	1	0	0	0	0	0	0	0	1	3821	991	35	4		4	CPNE6	14	24545480	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		24545480	82804060	95	2482										
FAM158A	51016	genome.wustl.edu	37	chr14	24608392	24608392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctgccgtgactcttcccagtCcctccacatcactctgaaat	5	17	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr14:24608392C>T	ENST00000419198.2	-	5	734	c.454G>A	c.(454-456)Gac>Aac	p.D152N	EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_Missense_Mutation_p.D78N|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.D152N			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	152						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											TCTTCCCAGTCCCTCCACATC	0.532																																																	0													92	92	92					14																	24608392		2203	4300	6503	SO:0001583	missense	51016			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 122", "family with sequence similarity 158, member A"	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.454G>A	14.37:g.24608392C>T	ENSP00000403210:p.Asp152Asn		D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.D152N	ENST00000419198.2	37	c.454	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	c	18.75	3.691558	0.68271	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.43688	0.94;0.94	5.18	4.29	0.51040	.	0.234160	0.43579	N	0.000551	T	0.30386	0.0763	L	0.41573	1.285	0.38632	D	0.951397	B	0.02656	0.0	B	0.08055	0.003	T	0.15178	-1.0446	10	0.30078	T	0.28	-15.9075	7.1778	0.25755	0.0:0.7376:0.1721:0.0903	.	152	Q9Y3B6	F158A_HUMAN	N	152	ENSP00000403210:D152N;ENSP00000216799:D152N	ENSP00000216799:D152N	D	-	1	0	FAM158A	23678232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.129000	0.42055	1.397000	0.46682	0.655000	0.94253	GAC	EMC9	-	pfam_UPF0172		0.532	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	C	NM_016049		24608392	-1	no_errors	ENST00000216799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24608392	C	T	24608392	3	4	15	1	0	0	0	0	1	0	0	0	5482	855	30	1	176	1	FAM158A	14	24608392	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	62912	24608392	82741148	96	2483										
KIAA0317	9870	genome.wustl.edu	37	chr14	75151318	75151318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctggaggaagctgactacacGtgcggcaagctcaaagagga	14	9	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr14:75151318G>T	ENST00000356357.4	-	4	597	c.82C>A	c.(82-84)Cgt>Agt	p.R28S	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	28					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGACTACACGTGCGGCAAGC	0.517																																																	0													52	51	51					14																	75151318		1981	4172	6153	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.82C>A	14.37:g.75151318G>T	ENSP00000348714:p.Arg28Ser		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.R28S	ENST00000356357.4	37	c.82	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046571	0.55110	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.51817	0.69;0.69	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.996;0.987	D;D	0.76575	0.988;0.931	T	0.44937	-0.9295	10	0.12103	T	0.63	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	28;28	O15033-2;O15033	.;K0317_HUMAN	S	28	ENSP00000348714:R28S;ENSP00000450458:R28S	ENSP00000348714:R28S	R	-	1	0	KIAA0317	74221071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.281000	0.78621	2.730000	0.93505	0.655000	0.94253	CGT	KIAA0317	-	NULL		0.517	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	G	NM_014821		75151318	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75151318	G	T	75151318	3	4	15	1	0	0	0	0	1	0	0	0	8187	1145	40	2	2457	2	KIAA0317	14	75151318	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	50542926	75151318	32198222	97	2484										
C14orf145	145508	genome.wustl.edu	37	chr14	80997191	80997191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttctagtaggctcagtttctCaggcacagactccagatggt	10	10	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr14:80997191C>G	ENST00000555265.1	-	22	3295	c.2920G>C	c.(2920-2922)Gag>Cag	p.E974Q	CEP128_ENST00000281129.3_Missense_Mutation_p.E974Q|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	974						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTCAGTTTCTCAGGCACAGAC	0.378																																																	0													90	85	86					14																	80997191		2203	4300	6503	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2920G>C	14.37:g.80997191C>G	ENSP00000451162:p.Glu974Gln		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.E974Q	ENST00000555265.1	37	c.2920	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.464024|4.464024	0.84425|0.84425	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619|ENST00000556061	T;T|.	0.42131|.	0.98;0.98|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.068672|.	0.56097|.	D|.	0.000031|.	T|.	0.73659|.	0.3615|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74023|.	0.982|.	T|.	0.69518|.	-0.5124|.	10|.	0.42905|.	T|.	0.14|.	.|.	20.0303|20.0303	0.97534|0.97534	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	974|.	Q6ZU80|.	CE128_HUMAN|.	Q|S	974|39	ENSP00000281129:E974Q;ENSP00000451162:E974Q|.	ENSP00000281129:E974Q|.	E|X	-|-	1|2	0|2	CEP128|CEP128	80066944|80066944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.368000|4.368000	0.59505|0.59505	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	GAG|TGA	CEP128	-	NULL		0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	C	NM_152446		80997191	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80997191	C	G	80997191	3	3	15	1	0	0	0	0	1	0	0	0	1753	835	29	1	380	1	C14orf145	14	80997191	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	5845873	80997191	26352349	98	2485										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102466695	102466695	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aggtttgggagcaaatcgatCagatgaaggagcaaccctgg	14	7	1	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr14:102466695C>T	ENST00000360184.4	+	18	4197	c.4033C>T	c.(4033-4035)Cag>Tag	p.Q1345*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1345	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAAATCGATCAGATGAAGGA	0.413																																																	0													126	127	127					14																	102466695		2203	4300	6503	SO:0001587	stop_gained	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4033C>T	14.37:g.102466695C>T	ENSP00000348965:p.Gln1345*		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q1345*	ENST00000360184.4	37	c.4033	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	46	12.119425	0.99638	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	X	1345	.	ENSP00000348965:Q1345X	Q	+	1	0	DYNC1H1	101536448	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CAG	DYNC1H1	-	pfam_Dynein_heavy_dom-2		0.413	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102466695	1	no_errors	ENST00000360184	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	102466695	C	T	102466695	4	4	15	1	0	0	0	0	0	1	0	0	4851	827	29	1	4103	1	DYNC1H1	14	102466695	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	21469504	102466695	4882845	99	2486										
PPIP5K1	9677	genome.wustl.edu	37	chr15	43873496	43873496	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	catgactggatatcgaatctCtttcccctcactgtctcgtt	6	13	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr15:43873496C>G	ENST00000396923.3	-	8	989	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E290Q|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E290Q|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E290Q|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E290Q|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E290Q|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.E290Q|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E290Q			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	290					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TATCGAATCTCTTTCCCCTCA	0.512																																																	0													181	156	164					15																	43873496		2198	4296	6494	SO:0001583	missense	9677			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.868G>C	15.37:g.43873496C>G	ENSP00000380129:p.Glu290Gln		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2,superfamily_MTCP1	p.E290Q	ENST00000396923.3	37	c.868	CCDS45252.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326862	0.81690	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.56103	0.48;0.56;1.17;0.56;0.48;0.48;0.53;1.17	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.996	D	0.86812	0.1999	10	0.87932	D	0	-16.6048	17.9907	0.89168	0.0:1.0:0.0:0.0	.	290;290;290;290	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	Q	290;290;290;290;290;290;290;290;290;290;291	ENSP00000371309:E290Q;ENSP00000353446:E290Q;ENSP00000353253:E290Q;ENSP00000334779:E290Q;ENSP00000380129:E290Q;ENSP00000400887:E290Q;ENSP00000371303:E290Q;ENSP00000308773:E290Q	ENSP00000304750:E290Q	E	-	1	0	PPIP5K1	41660788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.636000	0.83301	2.444000	0.82710	0.644000	0.83932	GAG	PPIP5K1	-	NULL		0.512	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PPIP5K1	HGNC	protein_coding	OTTHUMT00000132907.1	C	NM_014659		43873496	-1	no_errors	ENST00000420765	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43873496	C	G	43873496	3	3	15	1	0	0	0	0	1	0	0	0	12359	922	32	1	3649	1	PPIP5K1	15	43873496	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		43873496	58657896	100	2487										
TLN2	83660	genome.wustl.edu	37	chr15	62942299	62942299	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tcagcttctgactatggactCtttctttcggatgaagaccc	8	11	4	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr15:62942299C>T	ENST00000561311.1	+	4	383	c.153C>T	c.(151-153)ctC>ctT	p.L51L	TLN2_ENST00000306829.6_Silent_p.L51L			Q9Y4G6	TLN2_HUMAN	talin 2	51					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACTATGGACTCTTTCTTTCGG	0.488																																																	0													135	130	132					15																	62942299		2203	4300	6503	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.153C>T	15.37:g.62942299C>T			A6NLB8	Silent	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.L51	ENST00000561311.1	37	c.153	CCDS32261.1	15																																																																																			TLN2	-	NULL		0.488	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	C			62942299	1	no_errors	ENST00000306829	ensembl	human	known	70_37	silent	SNP	0.996	T	T	62942299	C	T	62942299	2	4	15	1	0	0	0	0	0	0	0	1	15978	900	32	1		1	TLN2	15	62942299	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	19068803	62942299	39589093	101	2488										
CTSH	1512	genome.wustl.edu	37	chr15	79217722	79217722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	catgaagtcctgagtcacctCaaaggcaaagctcacagggt	10	11	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr15:79217722C>G	ENST00000220166.5	-	10	869	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	254					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TGAGTCACCTCAAAGGCAAAG	0.572																																																	0													106	81	90					15																	79217722		2196	4293	6489	SO:0001583	missense	1512			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.760G>C	15.37:g.79217722C>G	ENSP00000220166:p.Glu254Gln		B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E254Q	ENST00000220166.5	37	c.760	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869752	0.51588	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	T	0.22743	1.94	5.25	5.25	0.73442	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	N	0.21324	0.655	0.53005	D	0.999964	D;D	0.63046	0.992;0.977	P;P	0.54965	0.765;0.765	T	0.02009	-1.1230	10	0.72032	D	0.01	.	14.3354	0.66586	0.0:1.0:0.0:0.0	.	254;242	P09668;E9PBP2	CATH_HUMAN;.	Q	254;242	ENSP00000220166:E254Q	ENSP00000220166:E254Q	E	-	1	0	CTSH	77004777	0.993000	0.37304	0.999000	0.59377	0.541000	0.35023	2.885000	0.48570	2.465000	0.83290	0.467000	0.42956	GAG	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.572	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	C	NM_004390		79217722	-1	no_errors	ENST00000220166	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79217722	C	G	79217722	3	3	15	1	0	0	0	0	1	0	0	0	4041	835	29	1	259	1	CTSH	15	79217722	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	16275423	79217722	23313670	102	2489										
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1793357	1793357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aaggagcgccccacctccctGaacgtgttccccctggctga	10	17	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr16:1793357G>A	ENST00000250894.4	+	5	781	c.624G>A	c.(622-624)ctG>ctA	p.L208L	MAPK8IP3_ENST00000356010.5_Silent_p.L208L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	208					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCACCTCCCTGAACGTGTTCC	0.657																																																	0													41	45	44					16																	1793357		2039	4166	6205	SO:0001819	synonymous_variant	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.624G>A	16.37:g.1793357G>A			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.L208	ENST00000250894.4	37	c.624	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL		0.657	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	G	NM_001040439		1793357	1	no_errors	ENST00000250894	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1793357	G	A	1793357	2	1	15	1	0	0	0	0	0	0	0	1	9309	1277	45	1		1	MAPK8IP3	16	1793357	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		1793357	88561396	103	2490										
UBFD1	56061	genome.wustl.edu	37	chr16	23573950	23573950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tctctcgtgccttcaggagcGcctgccaacggtaccgctgt	11	15	2	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr16:23573950G>A	ENST00000395878.3	+	5	1016	c.635G>A	c.(634-636)cGc>cAc	p.R212H	UBFD1_ENST00000219638.4_Missense_Mutation_p.R436H|UBFD1_ENST00000567212.1_Missense_Mutation_p.R203H|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	212							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CTTCAGGAGCGCCTGCCAACG	0.517																																					Melanoma(22;290 1069 22358 48158)												0													44	47	46					16																	23573950		2121	4236	6357	SO:0001583	missense	56061			AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.635G>A	16.37:g.23573950G>A	ENSP00000379217:p.Arg212His		A8MW58|D3DWF2	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.R436H	ENST00000395878.3	37	c.1307	CCDS10613.2	16	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934207	0.52866	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.78	5.78	0.91487	.	0.055871	0.64402	D	0.000001	T	0.43100	0.1232	N	0.16478	0.41	0.58432	D	0.999994	B	0.10296	0.003	B	0.04013	0.001	T	0.28459	-1.0043	9	0.49607	T	0.09	-7.9567	14.2726	0.66159	0.073:0.0:0.927:0.0	.	212	O14562	UBFD1_HUMAN	H	436;212;89	.	ENSP00000219638:R436H	R	+	2	0	UBFD1	23481451	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	6.363000	0.73082	2.732000	0.93576	0.655000	0.94253	CGC	UBFD1	-	NULL		0.517	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000250795.2	G	NM_019116		23573950	1	no_errors	ENST00000219638	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23573950	G	A	23573950	3	1	15	1	0	0	0	0	1	0	0	0	16915	1087	38	2	653	2	UBFD1	16	23573950	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	21780593	23573950	66780803	104	2491										
SRCAP	10847	genome.wustl.edu	37	chr16	30721367	30721367	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggaagggccttccagcccctCtcaaaccccctcatctcatg	7	18	3	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr16:30721367C>G	ENST00000262518.4	+	8	1437	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	SRCAP_ENST00000344771.4_Missense_Mutation_p.S351C|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.S351C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	351	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCAGCCCCTCTCAAACCCCC	0.577																																																	0													57	52	54					16																	30721367		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1052C>G	16.37:g.30721367C>G	ENSP00000262518:p.Ser351Cys		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S351C	ENST00000262518.4	37	c.1052	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446383	0.25987	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91577	-2.87;-2.84;-2.84	5.39	4.44	0.53790	.	0.394954	0.22132	N	0.064174	D	0.89863	0.6838	L	0.40543	1.245	0.35300	D	0.782963	D;P	0.54964	0.969;0.947	P;P	0.53146	0.719;0.527	D	0.92408	0.5935	10	0.56958	D	0.05	-4.3316	11.3601	0.49638	0.0:0.9157:0.0:0.0843	.	351;351	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	351	ENSP00000262518:S351C;ENSP00000378499:S351C;ENSP00000343042:S351C	ENSP00000262518:S351C	S	+	2	0	SRCAP	30628868	0.178000	0.23122	0.882000	0.34594	0.977000	0.68977	0.633000	0.24598	1.520000	0.48965	0.655000	0.94253	TCT	SRCAP	-	NULL		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30721367	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.971	G	G	30721367	C	G	30721367	3	3	15	1	0	0	0	0	1	0	0	0	15165	913	32	1	1074	1	SRCAP	16	30721367	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	7147417	30721367	59633386	105	2492										
C16orf70	80262	genome.wustl.edu	37	chr16	67179511	67179511	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctcctgggccaccctgtggaGaagcctgttgtcctgcacag	12	14	0	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr16:67179511G>A	ENST00000219139.3	+	14	1277	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	C16orf70_ENST00000569600.1_Silent_p.E363E	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	363										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTGGAGAAGCCTGTTG	0.597																																																	0													74	63	67					16																	67179511		2199	4300	6499	SO:0001819	synonymous_variant	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1089G>A	16.37:g.67179511G>A			Q9HA86	Silent	SNP	pfam_UPF0183	p.E363	ENST00000219139.3	37	c.1089	CCDS10828.1	16																																																																																			C16orf70	-	pfam_UPF0183		0.597	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2	G	NM_025187		67179511	1	no_errors	ENST00000219139	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67179511	G	A	67179511	2	1	15	1	0	0	0	0	0	0	0	1	1833	933	33	1		1	C16orf70	16	67179511	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	36458144	67179511	23175242	106	2493										
NUTF2	10204	genome.wustl.edu	37	chr16	67902253	67902253	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cctttttcagattgacgcgtCatgccttacgtgggaaggac	11	10	2	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr16:67902253C>T	ENST00000219169.4	+	3	393	c.110C>T	c.(109-111)tCa>tTa	p.S37L	NUTF2_ENST00000569436.2_Missense_Mutation_p.S37L|NUTF2_ENST00000568396.2_Missense_Mutation_p.S37L	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	37	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		ATTGACGCGTCATGCCTTACG	0.522																																																	0													109	108	108					16																	67902253		2198	4300	6498	SO:0001583	missense	10204			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.110C>T	16.37:g.67902253C>T	ENSP00000219169:p.Ser37Leu		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.S37L	ENST00000219169.4	37	c.110	CCDS10848.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.461289	0.96240	.	.	ENSG00000102898	ENST00000219169	.	.	.	6.17	6.17	0.99709	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.954	D	0.91539	0.5248	9	0.87932	D	0	-3.1133	19.6509	0.95805	0.0:1.0:0.0:0.0	.	37;37	B4DEQ2;P61970	.;NTF2_HUMAN	L	37	.	ENSP00000219169:S37L	S	+	2	0	NUTF2	66459754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.163000	0.77524	2.941000	0.99782	0.655000	0.94253	TCA	NUTF2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.522	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTF2	HGNC	protein_coding	OTTHUMT00000268871.1	C			67902253	1	no_errors	ENST00000219169	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67902253	C	T	67902253	3	4	15	1	0	0	0	0	1	0	0	0	10803	838	29	1	116	1	NUTF2	16	67902253	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	722742	67902253	22452500	107	2494										
NUTF2	10204	genome.wustl.edu	37	chr16	67902436	67902436	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagaaaattcagcacagcatCaccgcgcaggaccatcagcc	8	15	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr16:67902436C>T	ENST00000219169.4	+	4	487	c.204C>T	c.(202-204)atC>atT	p.I68I	NUTF2_ENST00000569436.2_Silent_p.I68I|NUTF2_ENST00000568396.2_Silent_p.I68I	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	68	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		AGCACAGCATCACCGCGCAGG	0.572																																																	0													211	210	210					16																	67902436		2198	4300	6498	SO:0001819	synonymous_variant	10204			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.204C>T	16.37:g.67902436C>T			B2R4G7|P13662|Q6IB67	Silent	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.I68	ENST00000219169.4	37	c.204	CCDS10848.1	16																																																																																			NUTF2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.572	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTF2	HGNC	protein_coding	OTTHUMT00000268871.1	C			67902436	1	no_errors	ENST00000219169	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67902436	C	T	67902436	2	4	15	1	0	0	0	0	0	0	0	1	10803	816	29	1		1	NUTF2	16	67902436	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	183	67902436	22452317	108	2495										
TP53	7157	genome.wustl.edu	37	chr17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gctgctcaccatcgctatctGagcagcgctcatggtggggg	14	12	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:7578382G>C	ENST00000269305.4	-	5	737	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*	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	183	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; 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.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(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)	ATCGCTATCTGAGCAGCGCTC	0.647		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	61	Substitution - Nonsense(33)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	lung(14)|upper_aerodigestive_tract(10)|large_intestine(9)|urinary_tract(7)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|stomach(1)|oesophagus(1)|prostate(1)|liver(1)											47	46	47					17																	7578382		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.548C>G	17.37:g.7578382G>C	ENSP00000269305:p.Ser183*		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.S183*	ENST00000269305.4	37	c.548	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279499	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	4.49	0.54785	.	0.792587	0.11610	N	0.546873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.9105	8.094	0.30818	0.084:0.1611:0.7549:0.0	.	.	.	.	X	183;183;183;183;183;183;172;90;51;90;51	.	ENSP00000269305:S183X	S	-	2	0	TP53	7519107	0.001000	0.12720	0.516000	0.27786	0.577000	0.36160	0.920000	0.28705	1.440000	0.47531	0.563000	0.77884	TCA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7578382	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	nonsense	SNP	0.011	C	C	7578382	G	C	7578382	4	2	15	1	0	0	0	0	0	1	0	0	16412	1294	45	1	750	1	TP53	17	7578382	Nonsense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		7578382	73616828	109	2496										
DNAH2	146754	genome.wustl.edu	37	chr17	7690336	7690336	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctcatcaacggcgagcgcatCgcgatgcccgagcaggtcag	13	14	3	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:7690336C>T	ENST00000572933.1	+	42	8048	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	DNAH2_ENST00000389173.2_Silent_p.I2196I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2196	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCGAGCGCATCGCGATGCCCG	0.637																																																	0													59	40	46					17																	7690336		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6588C>T	17.37:g.7690336C>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.I2196	ENST00000572933.1	37	c.6588	CCDS32551.1	17																																																																																			DNAH2	-	pfam_ATPase_dyneun-rel_AAA		0.637	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7690336	1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	0.472	T	T	7690336	C	T	7690336	2	4	15	1	0	0	0	0	0	0	0	1	4612	874	31	1		1	DNAH2	17	7690336	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	111954	7690336	73504874	110	2497										
MYH1	4619	genome.wustl.edu	37	chr17	10400712	10400712	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gagtgagcgggattccttttGagaagcttcaagttcagcat	12	7	2	2	rs139132394		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:10400712G>C	ENST00000226207.5	-	32	4517	c.4423C>G	c.(4423-4425)Caa>Gaa	p.Q1475E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1475					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATTCCTTTTGAGAAGCTTCA	0.378																																																	0													79	76	77					17																	10400712		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4423C>G	17.37:g.10400712G>C	ENSP00000226207:p.Gln1475Glu		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1475E	ENST00000226207.5	37	c.4423	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454039	0.84209	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.79653	-1.29	5.76	5.76	0.90799	Myosin tail (1);	0.000000	0.41097	U	0.000959	D	0.90092	0.6905	M	0.82056	2.57	0.80722	D	1	P	0.46512	0.879	P	0.61003	0.882	D	0.90125	0.4202	10	0.87932	D	0	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	1475	P12882	MYH1_HUMAN	E	1475;564	ENSP00000226207:Q1475E	ENSP00000226207:Q1475E	Q	-	1	0	MYH1	10341437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.871000	0.98454	0.655000	0.94253	CAA	MYH1	-	pfam_Myosin_tail,superfamily_Prefoldin		0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	G	NM_005963		10400712	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10400712	G	C	10400712	3	2	15	1	0	0	0	0	1	0	0	0	10052	1299	45	1	1432	1	MYH1	17	10400712	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	2710376	10400712	70794498	111	2498										
TOM1L2	146691	genome.wustl.edu	37	chr17	17772740	17772740	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tcattggacacgcgggagatGagctccacgatgcgctgctg	14	11	1	2	rs369013597	byFrequency	TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:17772740G>A	ENST00000379504.3	-	8	908	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TOM1L2_ENST00000540946.1_Silent_p.L177L|TOM1L2_ENST00000535933.1_Silent_p.L222L|TOM1L2_ENST00000581396.1_Silent_p.L225L|TOM1L2_ENST00000542206.1_Silent_p.L127L|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000478943.1_Silent_p.L8L|TOM1L2_ENST00000318094.10_Silent_p.L230L|TOM1L2_ENST00000395739.4_Silent_p.L230L	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	275	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CGCGGGAGATGAGCTCCACGA	0.577																																					Melanoma(192;2505 2909 14455 25269)												0													81	70	73					17																	17772740		2203	4300	6503	SO:0001819	synonymous_variant	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.825C>T	17.37:g.17772740G>A			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.L275	ENST00000379504.3	37	c.825	CCDS42270.1	17																																																																																			TOM1L2	-	pfam_GAT,pirsf_TOM1,pfscan_GAT		0.577	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	G			17772740	-1	no_errors	ENST00000379504	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17772740	G	A	17772740	2	1	15	1	0	0	0	0	0	0	0	1	16383	1277	45	1		1	TOM1L2	17	17772740	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	7372028	17772740	63422470	112	2499										
RNF135	84282	genome.wustl.edu	37	chr17	29314963	29314963	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttaaatggtttatcaataggCtttttcttctggggtggatc	10	5	3	0	rs141191751	byFrequency	TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:29314963C>G	ENST00000328381.5	+	3	1391	c.518C>G	c.(517-519)gCt>gGt	p.A173G	RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Splice_Site_p.A173G|RNF135_ENST00000324689.4_Intron	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	173					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A173G(1)|p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TATCAATAGGCTTTTTCTTCT	0.363																																																	2	Substitution - Missense(1)|Unknown(1)	breast(1)|central_nervous_system(1)						C	GLY/ALA,GLY/ALA,	2,4404	4.2+/-10.8	0,2,2201	86	86	86		518,518,	-0.4	0	17	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,intron	RNF135	NM_001184992.1,NM_032322.3,NM_197939.1	60,60,	0,3,6500	GG,GC,CC		0.0116,0.0454,0.0231	benign,benign,	173/287,173/433,	29314963	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	84282			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.517-1C>G	17.37:g.29314963C>G			A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.A173G	ENST00000328381.5	37	c.518	CCDS11262.1	17	.	.	.	.	.	.	.	.	.	.	C	3.451	-0.111925	0.06881	4.54E-4	1.16E-4	ENSG00000181481	ENST00000328381;ENST00000535306	T;T	0.57273	0.41;2.63	4.26	-0.443	0.12249	.	1.004380	0.08025	N	0.992656	T	0.35128	0.0921	N	0.25647	0.755	0.09310	N	1	B;B	0.34290	0.447;0.002	B;B	0.32583	0.148;0.001	T	0.18713	-1.0328	10	0.29301	T	0.29	-0.0367	6.9844	0.24721	0.4225:0.4887:0.0:0.0888	.	173;173	F5GX60;Q8IUD6	.;RN135_HUMAN	G	173	ENSP00000328340:A173G;ENSP00000440470:A173G	ENSP00000328340:A173G	A	+	2	0	RNF135	26339089	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	0.229000	0.17833	-0.221000	0.09973	-0.797000	0.03246	GCT	RNF135	-	NULL		0.363	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF135	HGNC	protein_coding	OTTHUMT00000256342.3	C	NM_032322	Missense_Mutation	29314963	1	no_errors	ENST00000328381	ensembl	human	known	70_37	missense	SNP	0.001	G	G	29314963	C	G	29314963	5	3	15	1	0	0	0	0	0	0	1	0	13470	811	28	4	528	4	RNF135	17	29314963	Splice_Site	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	11542223	29314963	51880247	113	2500										
TADA2A	6871	genome.wustl.edu	37	chr17	35804840	35804840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gggacttgagagacattgatTttgttgaagatgactcggac	13	5	0	6			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:35804840T>G	ENST00000394395.2	+	8	747	c.574T>G	c.(574-576)Ttt>Gtt	p.F192V	TADA2A_ENST00000586023.1_Missense_Mutation_p.F192V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.F192V|TADA2A_ENST00000417170.1_Missense_Mutation_p.F192V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	192					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AGACATTGATTTTGTTGAAGA	0.403																																																	0													238	225	230					17																	35804840		2203	4300	6503	SO:0001583	missense	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.574T>G	17.37:g.35804840T>G	ENSP00000377918:p.Phe192Val		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.F192V	ENST00000394395.2	37	c.574	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958296	0.92726	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.42513	0.97;0.97;0.97	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.78456	2.415	0.80722	D	1	D;P	0.53885	0.963;0.905	P;B	0.48921	0.595;0.38	T	0.58423	-0.7639	10	0.44086	T	0.13	-17.3615	16.3943	0.83563	0.0:0.0:0.0:1.0	.	192;192	O75478-2;O75478	.;TAD2A_HUMAN	V	192;91;192;192	ENSP00000377918:F192V;ENSP00000225396:F192V;ENSP00000406699:F192V	ENSP00000225396:F192V	F	+	1	0	TADA2A	32878953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	TTT	TADA2A	-	pirsf_Transcriptional_adaptor_2		0.403	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	T	NM_001488		35804840	1	no_errors	ENST00000225396	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35804840	T	G	35804840	3	3	15	1	0	0	0	0	1	0	0	0	15540	1841	64	5	600	5	TADA2A	17	35804840	Missense_Mutation	SNP	T	TCGA-C5-A1M6-01A-11D-A13W-08	6489877	35804840	45390370	114	2501										
GRN	2896	genome.wustl.edu	37	chr17	42427876	42427876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tctgcgacctggttcacaccCgctgcatcacacccacgggc	9	18	3	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:42427876C>T	ENST00000053867.3	+	6	591	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	177					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGTTCACACCCGCTGCATCAC	0.622											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114	110	111					17																	42427876		2203	4300	6503	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.529C>T	17.37:g.42427876C>T	ENSP00000053867:p.Arg177Cys	908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.R177C	ENST00000053867.3	37	c.529	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269788	0.40095	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72835	-0.69	4.43	4.43	0.53597	Granulin (2);	0.690305	0.12806	N	0.437562	D	0.83635	0.5297	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.80832	-0.1206	10	0.33141	T	0.24	-36.8245	12.4176	0.55502	0.0:1.0:0.0:0.0	.	177	P28799	GRN_HUMAN	C	177	ENSP00000053867:R177C	ENSP00000053867:R177C	R	+	1	0	GRN	39783402	0.007000	0.16637	0.479000	0.27329	0.022000	0.10575	0.917000	0.28665	2.289000	0.77006	0.462000	0.41574	CGC	GRN	-	pfam_Granulin,smart_Granulin		0.622	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	C	NM_002087		42427876	1	no_errors	ENST00000053867	ensembl	human	known	70_37	missense	SNP	0.901	T	T	42427876	C	T	42427876	3	4	15	1	0	0	0	0	1	0	0	0	6824	652	23	2	547	2	GRN	17	42427876	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	6623036	42427876	38767334	115	2502										
ABCC3	8714	genome.wustl.edu	37	chr17	48761448	48761448	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gcctccatgacctgcgctctCagctgaccatcatcccgcag	8	18	2	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:48761448C>T	ENST00000285238.8	+	28	4173	c.4093C>T	c.(4093-4095)Cag>Tag	p.Q1365*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1365	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		Q -> R (in dbSNP:rs11568590).		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.Q1365E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGCGCTCTCAGCTGACCAT	0.602																																																	2	Substitution - Missense(2)	lung(2)											50	41	44					17																	48761448		2203	4300	6503	SO:0001587	stop_gained	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4093C>T	17.37:g.48761448C>T	ENSP00000285238:p.Gln1365*		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.Q1365*	ENST00000285238.8	37	c.4093	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.536058	0.99198	.	.	ENSG00000108846	ENST00000285238	.	.	.	5.24	-0.787	0.10943	.	0.315286	0.32357	N	0.006217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-10.5377	10.995	0.47571	0.6819:0.2183:0.0998:0.0	.	.	.	.	X	1365	.	ENSP00000285238:Q1365X	Q	+	1	0	ABCC3	46116447	0.599000	0.26891	0.187000	0.23214	0.932000	0.56968	2.495000	0.45337	0.265000	0.21872	-0.181000	0.13052	CAG	ABCC3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48761448	1	no_errors	ENST00000285238	ensembl	human	known	70_37	nonsense	SNP	0.739	T	T	48761448	C	T	48761448	4	4	15	1	0	0	0	0	0	1	0	0	54	827	29	1	4287	1	ABCC3	17	48761448	Nonsense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	6333572	48761448	32433762	116	2503										
SPAG9	9043	genome.wustl.edu	37	chr17	49054561	49054561	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gagctgtaattctcacaaaaGagaagcccagttttccagta	8	9	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:49054561G>C	ENST00000262013.7	-	27	3639	c.3431C>G	c.(3430-3432)tCt>tGt	p.S1144C	SPAG9_ENST00000357122.4_Missense_Mutation_p.S1130C|SPAG9_ENST00000510283.1_Missense_Mutation_p.S987C|SPAG9_ENST00000505279.1_Missense_Mutation_p.S1134C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1144					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCTCACAAAAGAGAAGCCCAG	0.403																																																	0													119	109	112					17																	49054561		2203	4300	6503	SO:0001583	missense	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3431C>G	17.37:g.49054561G>C	ENSP00000262013:p.Ser1144Cys		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.S1144C	ENST00000262013.7	37	c.3431	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488123	0.84854	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.59	4.62	0.57501	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.67628	-0.5622	10	0.87932	D	0	-9.8259	14.4409	0.67318	0.0709:0.0:0.9291:0.0	.	1134;1144;1130;987	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	C	1144;901;891;987;1134;1130;742	ENSP00000262013:S1144C;ENSP00000423165:S987C;ENSP00000426900:S1134C;ENSP00000349636:S1130C	ENSP00000262013:S1144C	S	-	2	0	SPAG9	46409560	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.409000	0.97331	1.361000	0.45981	0.460000	0.39030	TCT	SPAG9	-	superfamily_WD40_repeat_dom		0.403	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	G	NM_003971		49054561	-1	no_errors	ENST00000262013	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49054561	G	C	49054561	3	2	15	1	0	0	0	0	1	0	0	0	15015	942	33	1	550	1	SPAG9	17	49054561	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	293113	49054561	32140649	117	2504										
TUBD1	51174	genome.wustl.edu	37	chr17	57958298	57958298	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	taatctgattcattttcaatGagtttgagtactgatcttct	6	6	5	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:57958298G>C	ENST00000592426.1	-	3	494	c.494C>G	c.(493-495)tCa>tGa	p.S165*	TUBD1_ENST00000340993.6_Nonsense_Mutation_p.S165*|TUBD1_ENST00000325752.3_Nonsense_Mutation_p.S165*|TUBD1_ENST00000394239.3_Nonsense_Mutation_p.S165*|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Nonsense_Mutation_p.S165*|TUBD1_ENST00000539018.1_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	165					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CATTTTCAATGAGTTTGAGTA	0.343																																																	0													204	191	195					17																	57958298		2203	4300	6503	SO:0001587	stop_gained	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.494C>G	17.37:g.57958298G>C	ENSP00000468518:p.Ser165*		B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Nonsense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.S165*	ENST00000592426.1	37	c.494	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.172545	0.94807	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	.	.	.	6.08	6.08	0.98989	.	0.101207	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4421	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	165	.	ENSP00000320797:S165X	S	-	2	0	TUBD1	55313080	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	7.319000	0.79040	2.894000	0.99253	0.591000	0.81541	TCA	TUBD1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin		0.343	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	G	NM_016261		57958298	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	57958298	G	C	57958298	4	2	15	1	0	0	0	0	0	1	0	0	16793	1294	45	1	891	1	TUBD1	17	57958298	Nonsense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	8903737	57958298	23236912	118	2505										
TBX4	9496	genome.wustl.edu	37	chr17	59557640	59557640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctcagcacctttcccacccaGagggactcaagcctcttcta	6	17	4	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:59557640G>C	ENST00000240335.1	+	7	1026	c.981G>C	c.(979-981)caG>caC	p.Q327H	TBX4_ENST00000393853.4_Missense_Mutation_p.Q327H|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	327					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q327Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTCCCACCCAGAGGGACTCAA	0.617																																																	1	Substitution - coding silent(1)	prostate(1)											48	41	43					17																	59557640		2203	4300	6503	SO:0001583	missense	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.981G>C	17.37:g.59557640G>C	ENSP00000240335:p.Gln327His		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.Q327H	ENST00000240335.1	37	c.981	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169752	0.78452	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.81499	-1.5;-1.5	5.84	5.84	0.93424	.	0.110909	0.64402	D	0.000003	D	0.87313	0.6146	L	0.51422	1.61	0.46542	D	0.999099	D;D	0.63046	0.992;0.992	D;D	0.72075	0.976;0.976	D	0.85208	0.1019	9	.	.	.	.	19.1261	0.93384	0.0:0.0:1.0:0.0	.	327;327	A5PKU7;P57082	.;TBX4_HUMAN	H	327	ENSP00000377435:Q327H;ENSP00000240335:Q327H	.	Q	+	3	2	TBX4	56912422	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.753000	0.62183	2.779000	0.95612	0.655000	0.94253	CAG	TBX4	-	NULL		0.617	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	G	NM_018488		59557640	1	no_errors	ENST00000393853	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59557640	G	C	59557640	3	2	15	1	0	0	0	0	1	0	0	0	15690	933	33	1	1007	1	TBX4	17	59557640	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	1599342	59557640	21637570	119	2506										
TRIM47	91107	genome.wustl.edu	37	chr17	73871532	73871532	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctccaagaggttcgtactctCgaggtcttggggctcagcat	12	11	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr17:73871532C>G	ENST00000254816.2	-	5	1251	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.E171Q	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	409						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E409K(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCGTACTCTCGAGGTCTTGG	0.597																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											82	76	78					17																	73871532		2203	4300	6503	SO:0001583	missense	91107			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1225G>C	17.37:g.73871532C>G	ENSP00000254816:p.Glu409Gln		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.E409Q	ENST00000254816.2	37	c.1225	CCDS32737.1	17	.	.	.	.	.	.	.	.	.	.	C	5.481	0.273756	0.10403	.	.	ENSG00000132481	ENST00000254816	T	0.42131	0.98	4.86	4.86	0.63082	.	0.203527	0.34460	N	0.003945	T	0.23766	0.0575	N	0.08118	0	0.22412	N	0.999125	B	0.28082	0.2	B	0.24155	0.051	T	0.15694	-1.0428	10	0.36615	T	0.2	.	13.8194	0.63311	0.0:1.0:0.0:0.0	.	409	Q96LD4	TRI47_HUMAN	Q	409	ENSP00000254816:E409Q	ENSP00000254816:E409Q	E	-	1	0	TRIM47	71383127	0.011000	0.17503	0.051000	0.19133	0.011000	0.07611	1.180000	0.32005	2.423000	0.82170	0.511000	0.50034	GAG	TRIM47	-	NULL		0.597	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM47	HGNC	protein_coding	OTTHUMT00000448934.1	C			73871532	-1	no_errors	ENST00000254816	ensembl	human	known	70_37	missense	SNP	0.891	G	G	73871532	C	G	73871532	3	3	15	1	0	0	0	0	1	0	0	0	16553	893	31	1	699	1	TRIM47	17	73871532	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	14313892	73871532	7323678	120	2507										
ROCK1	6093	genome.wustl.edu	37	chr18	18562727	18562727	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	aaatgattctcacttaccgaGaaatattgctcagcttcaag	6	9	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr18:18562727G>A	ENST00000399799.2	-	21	3496	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	852	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CACTTACCGAGAAATATTGCT	0.343																																																	0													129	121	124					18																	18562727		2203	4300	6503	SO:0001819	synonymous_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2556C>T	18.37:g.18562727G>A			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.F852	ENST00000399799.2	37	c.2556	CCDS11870.2	18																																																																																			ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin		0.343	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	G	NM_005406		18562727	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18562727	G	A	18562727	2	1	15	1	0	0	0	0	0	0	0	1	13547	933	33	1		1	ROCK1	18	18562727	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		18562727	59514521	121	2508										
REXO1	57455	genome.wustl.edu	37	chr19	1827430	1827430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggctcggccgccgcgctggcCggtcaggcctccctttccct	13	19	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:1827430C>T	ENST00000170168.4	-	2	1452	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	453						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCTGGCCGGTCAGGCCT	0.731																																																	0													8	9	9					19																	1827430		2087	4084	6171	SO:0001583	missense	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1358G>A	19.37:g.1827430C>T	ENSP00000170168:p.Arg453Gln		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R453Q	ENST00000170168.4	37	c.1358	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	C	5.700	0.313689	0.10789	.	.	ENSG00000079313	ENST00000170168	T	0.11495	2.77	3.39	-0.184	0.13280	.	0.788356	0.11384	N	0.569557	T	0.05364	0.0142	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46470	-0.9189	10	0.12103	T	0.63	-1.7761	8.4107	0.32642	0.0:0.6237:0.0:0.3763	.	453	Q8N1G1	REXO1_HUMAN	Q	453	ENSP00000170168:R453Q	ENSP00000170168:R453Q	R	-	2	0	REXO1	1778430	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.377000	0.07456	-0.125000	0.11703	0.555000	0.69702	CGG	REXO1	-	NULL		0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	C	NM_020695		1827430	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1827430	C	T	1827430	3	4	15	1	0	0	0	0	1	0	0	0	13271	652	23	2	2367	2	REXO1	19	1827430	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		1827430	57301553	122	2509										
EEF2	1938	genome.wustl.edu	37	chr19	3977937	3977937	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccgtcgggcccaaagcaccaGatcttgcgggcctcagccac	11	17	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:3977937G>A	ENST00000309311.6	-	12	2035	c.1947C>T	c.(1945-1947)atC>atT	p.I649I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	649					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGCACCAGATCTTGCGGG	0.632																																					Colon(165;1804 1908 4071 6587 18799)												0													75	69	71					19																	3977937		2203	4300	6503	SO:0001819	synonymous_variant	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1947C>T	19.37:g.3977937G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.I649	ENST00000309311.6	37	c.1947	CCDS12117.1	19																																																																																			EEF2	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV		0.632	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3977937	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3977937	G	A	3977937	2	1	15	1	0	0	0	0	0	0	0	1	4939	932	33	1		1	EEF2	19	3977937	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	2150507	3977937	55151046	123	2510										
ZNF433	163059	genome.wustl.edu	37	chr19	12125757	12125757	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tacatttatagggtttctctCcagtgtgagtccttccatgc	8	10	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:12125757C>G	ENST00000344980.6	-	4	2095	c.1925G>C	c.(1924-1926)gGa>gCa	p.G642A	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.G607A	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGGTTTCTCTCCAGTGTGAGT	0.448																																																	0													72	77	75					19																	12125757		2197	4299	6496	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1925G>C	19.37:g.12125757C>G	ENSP00000339767:p.Gly642Ala		Q86VX3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G642A	ENST00000344980.6	37	c.1925	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140392	0.56936	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.01505	4.82;4.82	1.42	1.42	0.22433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	M	0.73598	2.24	0.26579	N	0.973415	D	0.76494	0.999	D	0.67231	0.95	T	0.17289	-1.0374	9	0.72032	D	0.01	.	5.4375	0.16490	0.0:0.8102:0.0:0.1898	.	642	Q8N7K0	ZN433_HUMAN	A	607;642	ENSP00000393416:G607A;ENSP00000339767:G642A	ENSP00000339767:G642A	G	-	2	0	ZNF433	11986757	0.000000	0.05858	0.095000	0.20976	0.633000	0.38033	0.601000	0.24119	1.072000	0.40860	0.313000	0.20887	GGA	ZNF433	-	pfscan_Znf_C2H2		0.448	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12125757	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12125757	C	G	12125757	3	3	15	1	0	0	0	0	1	0	0	0	17937	855	30	1	100	1	ZNF433	19	12125757	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	8147820	12125757	47003226	124	2511										
CYP4F11	57834	genome.wustl.edu	37	chr19	16045204	16045204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccgaggcccagccaggacagGctcagctgcggcatcctgca	13	16	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:16045204G>A	ENST00000402119.4	-	1	441	c.15C>T	c.(13-15)agC>agT	p.S5S	CYP4F11_ENST00000326742.8_Silent_p.S5S|CYP4F11_ENST00000248041.8_Silent_p.S5S	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCCAGGACAGGCTCAGCTGCG	0.692																																																	0													22	24	23					19																	16045204		2201	4294	6495	SO:0001819	synonymous_variant	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.15C>T	19.37:g.16045204G>A				Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.S5	ENST00000402119.4	37	c.15	CCDS12337.1	19																																																																																			CYP4F11	-	NULL		0.692	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	G	NM_021187		16045204	-1	no_errors	ENST00000248041	ensembl	human	known	70_37	silent	SNP	0.511	A	A	16045204	G	A	16045204	2	1	15	1	0	0	0	0	0	0	0	1	4191	1194	42	4		4	CYP4F11	19	16045204	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	3919447	16045204	43083779	125	2512										
ARMC6	93436	genome.wustl.edu	37	chr19	19166203	19166203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cccagcatctgaccagccccCaggtacccacctcggggggc	11	19	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:19166203C>A	ENST00000535612.1	+	7	1585	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	ARMC6_ENST00000546344.1_Missense_Mutation_p.Q292K|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q360K|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q385K|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q360K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	385					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GACCAGCCCCCAGGTACCCAC	0.602																																																	0													71	58	62					19																	19166203		2203	4300	6503	SO:0001583	missense	93436			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1153C>A	19.37:g.19166203C>A	ENSP00000444156:p.Gln385Lys		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q385K	ENST00000535612.1	37	c.1153	CCDS56089.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.690681|2.690681	0.48097|0.48097	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	T;T|T;T;T;T;T	0.52754|0.46819	0.75;0.65|0.86;0.86;0.86;0.86;0.86	4.88|4.88	4.88|4.88	0.63580|0.63580	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.230563	.|0.36972	.|N	.|0.002319	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.54323|0.54323	1.7|1.7	0.47584|0.47584	D|D	0.999464|0.999464	.|D	.|0.58970	.|0.984	.|P	.|0.46110	.|0.504	T|T	0.41124|0.41124	-0.9526|-0.9526	7|10	0.35671|0.12103	T|T	0.21|0.63	-28.5352|-28.5352	17.0086|17.0086	0.86400|0.86400	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|385	.|Q6NXE6	.|ARMC6_HUMAN	Q|K	74;48|360;385;360;292;296;385	ENSP00000446234:P74Q;ENSP00000444265:P48Q|ENSP00000376147:Q360K;ENSP00000444156:Q385K;ENSP00000269932:Q360K;ENSP00000444341:Q292K;ENSP00000376148:Q385K	ENSP00000446234:P74Q|ENSP00000269932:Q360K	P|Q	+|+	2|1	0|0	ARMC6|ARMC6	19027203|19027203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.142000|0.142000	0.21351|0.21351	4.938000|4.938000	0.63519|0.63519	2.271000|2.271000	0.75665|0.75665	0.563000|0.563000	0.77884|0.77884	CCA|CAG	ARMC6	-	superfamily_ARM-type_fold,smart_Armadillo		0.602	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	C	NM_033415		19166203	1	no_errors	ENST00000392336	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19166203	C	A	19166203	3	1	15	1	0	0	0	0	1	0	0	0	956	595	21	4	1096	4	ARMC6	19	19166203	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	3120999	19166203	39962780	126	2513										
TSHZ3	57616	genome.wustl.edu	37	chr19	31770291	31770291	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gaggagggctggtgcaggttGaggttgaggttggaccagta	20	4	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:31770291G>A	ENST00000240587.4	-	2	735	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	136					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGCAGGTTGAGGTTGAGGT	0.592																																																	0													120	122	121					19																	31770291		2198	4293	6491	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.408C>T	19.37:g.31770291G>A			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L136	ENST00000240587.4	37	c.408	CCDS12421.2	19																																																																																			TSHZ3	-	NULL		0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	G	NM_020856		31770291	-1	no_errors	ENST00000240587	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31770291	G	A	31770291	2	1	15	1	0	0	0	0	0	0	0	1	16656	1277	45	1		1	TSHZ3	19	31770291	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	12604088	31770291	27358692	127	2514										
ANKRD27	84079	genome.wustl.edu	37	chr19	33096837	33096837	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttcttattgggttttgcattCgaatctaacagacacttcac	6	9	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:33096837C>T	ENST00000306065.4	-	24	2555	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	799					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GTTTTGCATTCGAATCTAACA	0.458																																																	0													149	144	146					19																	33096837		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2397G>A	19.37:g.33096837C>T			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.S799	ENST00000306065.4	37	c.2397	CCDS32986.1	19																																																																																			ANKRD27	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	C	NM_032139		33096837	-1	no_errors	ENST00000306065	ensembl	human	known	70_37	silent	SNP	0.000	T	T	33096837	C	T	33096837	2	4	15	1	0	0	0	0	0	0	0	1	655	871	31	1		1	ANKRD27	19	33096837	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	1326546	33096837	26032146	128	2515										
ZNF607	84775	genome.wustl.edu	37	chr19	38200684	38200684	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gagatattcccactcctgatGagagaagtctatggccacat	9	10	1	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:38200684G>C	ENST00000355202.4	-	3	644	c.49C>G	c.(49-51)Cat>Gat	p.H17D	ZNF607_ENST00000395835.3_Missense_Mutation_p.H17D|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.H17D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CACTCCTGATGAGAGAAGTCT	0.463																																																	0													115	98	104					19																	38200684		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.49C>G	19.37:g.38200684G>C	ENSP00000347338:p.His17Asp		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H17D	ENST00000355202.4	37	c.49	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311119	0.40895	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.01665	4.7;4.7	2.6	2.6	0.31112	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.29908	0.895	0.23524	N	0.997494	B;B	0.17852	0.024;0.007	B;B	0.12156	0.007;0.001	T	0.43702	-0.9375	9	0.59425	D	0.04	.	5.1546	0.15029	0.1673:0.0:0.8327:0.0	.	17;17	Q96SK3;F5H141	ZN607_HUMAN;.	D	17	ENSP00000347338:H17D;ENSP00000438015:H17D	ENSP00000347338:H17D	H	-	1	0	ZNF607	42892524	0.968000	0.33430	0.999000	0.59377	0.857000	0.48899	0.498000	0.22530	1.268000	0.44264	0.563000	0.77884	CAT	ZNF607	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.463	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	G	NM_032689		38200684	-1	no_errors	ENST00000355202	ensembl	human	known	70_37	missense	SNP	0.987	C	C	38200684	G	C	38200684	3	2	15	1	0	0	0	0	1	0	0	0	18063	1290	45	1	2053	1	ZNF607	19	38200684	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	5103847	38200684	20928299	129	2516										
ZNF607	84775	genome.wustl.edu	37	chr19	38200719	38200719	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccacatccccgaatgttattGatccctgaaacagcaaaccc	5	15	0	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:38200719G>C	ENST00000355202.4	-	3	609	c.14C>G	c.(13-15)tCa>tGa	p.S5*	ZNF607_ENST00000395835.3_Nonsense_Mutation_p.S5*|CTD-2528L19.4_ENST00000586606.2_Nonsense_Mutation_p.S5*	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAATGTTATTGATCCCTGAAA	0.507																																																	0													94	84	87					19																	38200719		2203	4300	6503	SO:0001587	stop_gained	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.14C>G	19.37:g.38200719G>C	ENSP00000347338:p.Ser5*		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S5*	ENST00000355202.4	37	c.14	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269983	0.59540	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	.	.	.	2.43	1.31	0.21738	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.0451	0.25040	0.1558:0.0:0.8442:0.0	.	.	.	.	X	5	.	ENSP00000347338:S5X	S	-	2	0	ZNF607	42892559	0.002000	0.14202	0.046000	0.18839	0.007000	0.05969	0.694000	0.25512	1.164000	0.42652	0.563000	0.77884	TCA	ZNF607	-	superfamily_Krueppel-associated_box		0.507	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	G	NM_032689		38200719	-1	no_errors	ENST00000355202	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	38200719	G	C	38200719	4	2	15	1	0	0	0	0	0	1	0	0	18063	1294	45	1	2088	1	ZNF607	19	38200719	Nonsense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	35	38200719	20928264	130	2517										
LYPD3	27076	genome.wustl.edu	37	chr19	43968495	43968495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	actggtctccaccgcccccaCggcctcggtgcagacgtcca	10	19	1	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:43968495C>T	ENST00000244333.3	-	2	281	c.193G>A	c.(193-195)Gtg>Atg	p.V65M		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	65	UPAR/Ly6 1.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCGCCCCCACGGCCTCGGTG	0.652																																																	0													36	30	32					19																	43968495		2202	4300	6502	SO:0001583	missense	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.193G>A	19.37:g.43968495C>T	ENSP00000244333:p.Val65Met		Q9UJ74	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.V65M	ENST00000244333.3	37	c.193	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392748	0.83011	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.39997	1.05	4.88	4.88	0.63580	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.165289	0.27289	N	0.020056	T	0.44307	0.1287	N	0.08118	0	0.36198	D	0.850545	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60167	-0.7316	10	0.72032	D	0.01	.	13.9639	0.64196	0.0:1.0:0.0:0.0	.	65;65	B2RBR3;O95274	.;LYPD3_HUMAN	M	65	ENSP00000244333:V65M	ENSP00000244333:V65M	V	-	1	0	LYPD3	48660335	0.992000	0.36948	0.994000	0.49952	0.931000	0.56810	3.834000	0.55798	2.437000	0.82529	0.456000	0.33151	GTG	LYPD3	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like		0.652	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	C	NM_014400		43968495	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	missense	SNP	0.991	T	T	43968495	C	T	43968495	3	4	15	1	0	0	0	0	1	0	0	0	9134	536	19	2	863	2	LYPD3	19	43968495	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	5767776	43968495	15160488	131	2518										
ZNF227	7770	genome.wustl.edu	37	chr19	44740134	44740134	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagaatgtccacactggggaGaaacgattcaagtgtgaaac	11	8	1	3			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:44740134G>A	ENST00000313040.7	+	6	1756	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	ZNF227_ENST00000391961.2_Silent_p.E466E|ZNF227_ENST00000589005.1_Silent_p.E466E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACACTGGGGAGAAACGATTCA	0.473																																																	0													59	58	58					19																	44740134		2203	4300	6503	SO:0001819	synonymous_variant	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1551G>A	19.37:g.44740134G>A			B3KRU7|B7Z5P9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E517	ENST00000313040.7	37	c.1551	CCDS12636.1	19																																																																																			ZNF227	-	pfscan_Znf_C2H2		0.473	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	G	NM_182490		44740134	1	no_errors	ENST00000313040	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44740134	G	A	44740134	2	1	15	1	0	0	0	0	0	0	0	1	17811	933	33	1		1	ZNF227	19	44740134	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	771639	44740134	14388849	132	2519										
IZUMO1	284359	genome.wustl.edu	37	chr19	49248480	49248480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gatgcatttaccttttacatCactgtctgtgatgcgtttca	7	9	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:49248480C>T	ENST00000332955.2	-	3	848	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	101					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCTTTTACATCACTGTCTGTG	0.502																																																	0													161	127	139					19																	49248480		2203	4300	6503	SO:0001583	missense	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.301G>A	19.37:g.49248480C>T	ENSP00000327786:p.Asp101Asn		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	NULL	p.D101N	ENST00000332955.2	37	c.301	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226689	0.58668	.	.	ENSG00000182264	ENST00000332955	T	0.22945	1.93	5.1	4.06	0.47325	.	1.277300	0.05345	N	0.530903	T	0.25419	0.0618	L	0.42245	1.32	0.09310	N	1	B	0.23891	0.093	B	0.19666	0.026	T	0.23084	-1.0198	10	0.31617	T	0.26	-4.3769	9.7434	0.40431	0.0:0.9033:0.0:0.0967	.	101	Q8IYV9	IZUM1_HUMAN	N	101	ENSP00000327786:D101N	ENSP00000327786:D101N	D	-	1	0	IZUMO1	53940292	0.000000	0.05858	0.044000	0.18714	0.921000	0.55340	0.225000	0.17757	1.292000	0.44672	0.491000	0.48974	GAT	IZUMO1	-	NULL		0.502	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	HGNC	protein_coding	OTTHUMT00000466189.1	C	NM_182575		49248480	-1	no_errors	ENST00000332955	ensembl	human	known	70_37	missense	SNP	0.026	T	T	49248480	C	T	49248480	3	4	15	1	0	0	0	0	1	0	0	0	7953	826	29	1	783	1	IZUMO1	19	49248480	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	4508346	49248480	9880503	133	2520										
CLEC11A	6320	genome.wustl.edu	37	chr19	51228562	51228562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tggcatcgctcaccccgcccCgagctcggcgcccagcccag	11	21	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:51228562C>T	ENST00000250340.4	+	4	1007	c.810C>T	c.(808-810)ccC>ccT	p.P270P	CLEC11A_ENST00000599973.1_Nonsense_Mutation_p.R287*	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	270	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACCCCGCCCCGAGCTCGGCG	0.721																																																	0													11	14	13					19																	51228562		2176	4246	6422	SO:0001819	synonymous_variant	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.810C>T	19.37:g.51228562C>T			B2RAD4	Nonsense_Mutation	SNP	NULL	p.R287*	ENST00000250340.4	37	c.859	CCDS12800.1	19																																																																																			CLEC11A	-	NULL		0.721	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	C	NM_002975		51228562	1	no_errors	ENST00000599973	ensembl	human	novel	70_37	nonsense	SNP	0.006	T	T	51228562	C	T	51228562	2	4	15	1	0	0	0	0	0	0	0	1	3501	639	23	2		2	CLEC11A	19	51228562	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	1980082	51228562	7900421	134	2521										
NLRP9	338321	genome.wustl.edu	37	chr19	56244845	56244845	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gtagaaatgctcagggacgtGaagacaggtttccttctccc	11	10	2	3	rs376663019		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr19:56244845G>A	ENST00000332836.2	-	2	379	c.352C>T	c.(352-354)Cac>Tac	p.H118Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	118						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCAGGGACGTGAAGACAGGTT	0.393																																																	0													127	126	126					19																	56244845		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.352C>T	19.37:g.56244845G>A	ENSP00000331857:p.His118Tyr		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.H118Y	ENST00000332836.2	37	c.352	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.732947	0.00687	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73047	-0.71	3.4	-4.44	0.03557	.	.	.	.	.	T	0.47838	0.1467	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45775	-0.9238	9	0.02654	T	1	.	7.1744	0.25736	0.0:0.4551:0.2371:0.3078	.	118	Q7RTR0	NALP9_HUMAN	Y	118	ENSP00000331857:H118Y	ENSP00000331857:H118Y	H	-	1	0	NLRP9	60936657	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.334000	0.07883	-0.343000	0.08351	-0.195000	0.12781	CAC	NLRP9	-	NULL		0.393	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	G	NM_176820		56244845	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56244845	G	A	56244845	3	1	15	1	0	0	0	0	1	0	0	0	10508	1290	45	1	2655	1	NLRP9	19	56244845	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	5016283	56244845	2884138	135	2522										
SALL4	57167	genome.wustl.edu	37	chr20	50407563	50407563	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	agtccccgaagaaagattctGaggtagccctacagaggtgg	13	9	1	4			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr20:50407563G>A	ENST00000217086.4	-	2	1570	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	487					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAAGATTCTGAGGTAGCCCT	0.552																																																	0													99	106	104					20																	50407563		2203	4300	6503	SO:0001587	stop_gained	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1459C>T	20.37:g.50407563G>A	ENSP00000217086:p.Gln487*		A2A2D8|Q540H3|Q6Y8G6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q487*	ENST00000217086.4	37	c.1459	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.476758	0.97598	.	.	ENSG00000101115	ENST00000217086	.	.	.	5.1	5.1	0.69264	.	0.205286	0.25299	N	0.031680	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.5433	17.0521	0.86521	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000217086:Q487X	Q	-	1	0	SALL4	49840970	1.000000	0.71417	0.972000	0.41901	0.985000	0.73830	4.692000	0.61746	2.517000	0.84864	0.650000	0.86243	CAG	SALL4	-	NULL		0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50407563	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	50407563	G	A	50407563	4	1	15	1	0	0	0	0	0	1	0	0	13843	1299	45	1	1714	1	SALL4	20	50407563	Nonsense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		50407563	12617957	136	2523										
TIAM1	7074	genome.wustl.edu	37	chr21	32598165	32598165	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tttttgatctctgatttcagGagtcggagcgtgtcttcctt	10	8	3	2			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr21:32598165G>C	ENST00000286827.3	-	8	2157	c.1686C>G	c.(1684-1686)ctC>ctG	p.L562L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.L562L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	562					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGATTTCAGGAGTCGGAGCG	0.502																																																	0													162	143	150					21																	32598165		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1686C>G	21.37:g.32598165G>C			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L562	ENST00000286827.3	37	c.1686	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32598165	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	0.998	C	C	32598165	G	C	32598165	2	2	15	1	0	0	0	0	0	0	0	1	15920	1161	41	1		1	TIAM1	21	32598165	Silent	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		32598165	15531730	137	2524										
SLC5A1	6523	genome.wustl.edu	37	chr22	32495249	32495249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cacaaagtgggcaactcttcGattacatccagtccatcacc	6	14	2	0	rs202145392		TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr22:32495249G>A	ENST00000266088.4	+	12	1610	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	SLC5A1_ENST00000543737.1_Missense_Mutation_p.D327N	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	454					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCAACTCTTCGATTACATCCA	0.493																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	243	224	230		1360	5.3	1	22		230	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC5A1	NM_000343.3	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	454/665	32495249	2,13004	2203	4300	6503	SO:0001583	missense	6523				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1360G>A	22.37:g.32495249G>A	ENSP00000266088:p.Asp454Asn		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D454N	ENST00000266088.4	37	c.1360	CCDS13902.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.140814	0.94560	2.27E-4	1.16E-4	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.88046	-2.33;-2.33	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	L	0.45137	1.4	0.80722	D	1	D	0.55800	0.973	P	0.52481	0.7	D	0.85835	0.1394	10	0.27785	T	0.31	.	17.9422	0.89028	0.0:0.0:1.0:0.0	.	454	P13866	SC5A1_HUMAN	N	454;327	ENSP00000266088:D454N;ENSP00000444898:D327N	ENSP00000266088:D454N	D	+	1	0	SLC5A1	30825249	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.808000	0.86044	2.474000	0.83562	0.557000	0.71058	GAT	SLC5A1	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	HGNC	protein_coding	OTTHUMT00000075656.3	G	NM_000343		32495249	1	no_errors	ENST00000266088	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32495249	G	A	32495249	3	1	15	1	0	0	0	0	1	0	0	0	14691	1058	37	1	1406	1	SLC5A1	22	32495249	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08		32495249	18809317	138	2525										
TTLL12	23170	genome.wustl.edu	37	chr22	43565562	43565562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ctcaaactcggggatgaactCttcacagtgcacctgcaaca	8	13	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chr22:43565562C>G	ENST00000216129.6	-	12	1651	c.1588G>C	c.(1588-1590)Gag>Cag	p.E530Q	TTLL12_ENST00000494035.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	530	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGGATGAACTCTTCACAGTGC	0.612																																																	0													63	54	57					22																	43565562		2202	4300	6502	SO:0001583	missense	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1588G>C	22.37:g.43565562C>G	ENSP00000216129:p.Glu530Gln		Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E530Q	ENST00000216129.6	37	c.1588	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668527	0.47677	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.05649	3.41	5.12	5.12	0.69794	.	0.154798	0.56097	D	0.000025	T	0.16471	0.0396	M	0.70842	2.15	0.80722	D	1	B;B	0.29627	0.252;0.252	B;B	0.41917	0.37;0.37	T	0.03807	-1.1002	10	0.30078	T	0.28	-23.9998	18.5635	0.91110	0.0:1.0:0.0:0.0	.	530;530	B1AH89;Q14166	.;TTL12_HUMAN	Q	530	ENSP00000216129:E530Q	ENSP00000216129:E530Q	E	-	1	0	TTLL12	41895506	0.997000	0.39634	0.910000	0.35882	0.115000	0.19883	3.635000	0.54309	2.381000	0.81170	0.555000	0.69702	GAG	TTLL12	-	pfam_Tub_tyr_ligase		0.612	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	C	NM_015140		43565562	-1	no_errors	ENST00000216129	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43565562	C	G	43565562	3	3	15	1	0	0	0	0	1	0	0	0	16756	922	32	1	358	1	TTLL12	22	43565562	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	11070313	43565562	7739004	139	2526										
PCYT1B	9468	genome.wustl.edu	37	chrX	24593430	24593430	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	tggttctggaaacggtacctCttctcctggtgaaagtttac	10	9	3	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chrX:24593430C>G	ENST00000379144.2	-	7	844	c.714G>C	c.(712-714)aaG>aaC	p.K238N	PCYT1B_ENST00000379145.1_Missense_Mutation_p.K220N|PCYT1B_ENST00000356768.4_Missense_Mutation_p.K238N	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	238					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	AACGGTACCTCTTCTCCTGGT	0.358																																																	0													115	96	102					X																	24593430		2203	4300	6503	SO:0001583	missense	9468			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.714G>C	X.37:g.24593430C>G	ENSP00000368439:p.Lys238Asn		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-like	p.K238N	ENST00000379144.2	37	c.714	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328197	0.41197	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	L	0.47078	1.49	0.80722	D	1	B;B;B	0.28605	0.162;0.217;0.217	B;B;B	0.31495	0.131;0.074;0.074	T	0.34502	-0.9826	9	0.13470	T	0.59	-4.9253	10.3376	0.43858	0.0:0.9077:0.0:0.0923	.	238;220;238	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	N	220;238;238	.	ENSP00000349211:K238N	K	-	3	2	PCYT1B	24503351	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.624000	0.67764	2.095000	0.63458	0.513000	0.50165	AAG	PCYT1B	-	NULL		0.358	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	C	NM_004845		24593430	-1	no_errors	ENST00000379144	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24593430	C	G	24593430	3	3	15	1	0	0	0	0	1	0	0	0	11635	912	32	1	440	1	PCYT1B	23	24593430	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08		24593430	130677130	140	2527										
GRIPAP1	56850	genome.wustl.edu	37	chrX	48840190	48840190	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ccctcatgttcccctaccttCcgagcctcctgtaattcctg	5	18	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chrX:48840190C>T	ENST00000376441.1	-	15	1303	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R	GRIPAP1_ENST00000376425.3_Silent_p.R392R|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Silent_p.R378R|GRIPAP1_ENST00000376423.4_Silent_p.R370R	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	423						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCCCTACCTTCCGAGCCTCCT	0.517																																																	0													227	164	185					X																	48840190		2203	4300	6503	SO:0001819	synonymous_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1269G>A	X.37:g.48840190C>T			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.R423	ENST00000376441.1	37	c.1269	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL		0.517	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	C	NM_207672		48840190	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48840190	C	T	48840190	2	4	15	1	0	0	0	0	0	0	0	1	6809	842	30	1		1	GRIPAP1	23	48840190	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	24246760	48840190	106430370	141	2528										
RNF113A	7737	genome.wustl.edu	37	chrX	119005291	119005291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ggatttataaaccacgccgaGactctcgggctcattttcct	8	12	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chrX:119005291G>C	ENST00000371442.2	-	1	500	c.286C>G	c.(286-288)Ctc>Gtc	p.L96V	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	96							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						ACCACGCCGAGACTCTCGGGC	0.542																																																	0													162	162	162					X																	119005291		2203	4300	6503	SO:0001583	missense	7737			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.286C>G	X.37:g.119005291G>C	ENSP00000360497:p.Leu96Val		B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.L96V	ENST00000371442.2	37	c.286	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	G	3.222	-0.159347	0.06544	.	.	ENSG00000125352	ENST00000371442	T	0.30448	1.53	5.49	1.18	0.20946	.	0.207522	0.40469	N	0.001098	T	0.14787	0.0357	N	0.12502	0.225	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29336	-1.0015	10	0.12766	T	0.61	-25.165	11.2602	0.49078	0.0:0.4643:0.421:0.1147	.	96	O15541	R113A_HUMAN	V	96	ENSP00000360497:L96V	ENSP00000360497:L96V	L	-	1	0	RNF113A	118889319	0.698000	0.27777	0.006000	0.13384	0.811000	0.45836	1.342000	0.33919	0.129000	0.18514	0.600000	0.82982	CTC	RNF113A	-	NULL		0.542	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	G	NM_006978		119005291	-1	no_errors	ENST00000371442	ensembl	human	known	70_37	missense	SNP	0.000	C	C	119005291	G	C	119005291	3	2	15	1	0	0	0	0	1	0	0	0	13457	942	33	1	749	1	RNF113A	23	119005291	Missense_Mutation	SNP	G	TCGA-C5-A1M6-01A-11D-A13W-08	70165101	119005291	36265269	142	2529										
ENOX2	10495	genome.wustl.edu	37	chrX	129799721	129799721	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	gtacacagccactatctgctCaactgcagcatcaaatcagc	6	14	4	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chrX:129799721C>G	ENST00000370927.1	-	7	1018	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ENOX2_ENST00000338144.3_Missense_Mutation_p.E333Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.E304Q|ENOX2_ENST00000394363.1_Missense_Mutation_p.E304Q			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	333					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ACTATCTGCTCAACTGCAGCA	0.488																																					Ovarian(101;828 1506 2951 9500 35258)												0													65	43	51					X																	129799721		2203	4300	6503	SO:0001583	missense	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.997G>C	X.37:g.129799721C>G	ENSP00000359965:p.Glu333Gln		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E333Q	ENST00000370927.1	37	c.997	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408529	0.83340	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.29917	1.55;1.55	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.59436	1.845	0.52501	D	0.99995	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.962	T	0.41928	-0.9481	9	.	.	.	-15.9116	15.1766	0.72916	0.0:1.0:0.0:0.0	.	333;361	Q16206;A4QPE1	ENOX2_HUMAN;.	Q	304;304;333;304;361;333;304	ENSP00000337146:E333Q;ENSP00000359965:E333Q	.	E	-	1	0	ENOX2	129627402	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.320000	0.79064	2.467000	0.83353	0.594000	0.82650	GAG	ENOX2	-	NULL		0.488	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	C	NM_182314		129799721	-1	no_errors	ENST00000338144	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129799721	C	G	129799721	3	3	15	1	0	0	0	0	1	0	0	0	5139	835	29	1	863	1	ENOX2	23	129799721	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	10794430	129799721	25470839	143	2530										
SOX3	6658	genome.wustl.edu	37	chrX	139586893	139586893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	ttcgcgccgccggctgcgttCgcactactcttgcctgcgcc	11	18	1	0			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chrX:139586893C>T	ENST00000370536.2	-	1	332	c.333G>A	c.(331-333)gcG>gcA	p.A111A		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	111					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CGGCTGCGTTCGCACTACTCT	0.706																																																	0													11	11	11					X																	139586893		2179	4223	6402	SO:0001819	synonymous_variant	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.333G>A	X.37:g.139586893C>T			P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A111	ENST00000370536.2	37	c.333	CCDS14669.1	X																																																																																			SOX3	-	NULL		0.706	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	C			139586893	-1	no_errors	ENST00000370536	ensembl	human	known	70_37	silent	SNP	0.908	T	T	139586893	C	T	139586893	2	4	15	1	0	0	0	0	0	0	0	1	14981	871	31	1		1	SOX3	23	139586893	Silent	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	9787172	139586893	15683667	144	2531										
EMD	2010	genome.wustl.edu	37	chrX	153608140	153608140	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.548611111111111	79	2.75664386134623e-31	4.11304197016996	5.42296774193548	3.22795698924731	0.534313222205402	0.756618723414949	60	cagctcgtccgccgcctcctCttatagcttctctggtgaga	9	15	2	1			TCGA-C5-A1M6-01A-11D-A13W-08	TCGA-C5-A1M6-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21b83870-9be0-44d2-9365-da0ac1eb44e6	c697db9d-0569-4f05-a3c3-b470633c5927	g.chrX:153608140C>G	ENST00000369842.4	+	2	461	c.173C>G	c.(172-174)tCt>tGt	p.S58C	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	58	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCCTCCTCTTATAGCTTC	0.667																																																	0													19	24	22					X																	153608140		2049	4061	6110	SO:0001583	missense	2010			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.173C>G	X.37:g.153608140C>G	ENSP00000358857:p.Ser58Cys		Q6FI02	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.S58C	ENST00000369842.4	37	c.173	CCDS14745.1	X	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089041	0.20390	.	.	ENSG00000102119	ENST00000369842	D	0.85702	-2.02	3.92	3.05	0.35203	.	0.371281	0.23351	N	0.049135	D	0.82683	0.5090	L	0.36672	1.1	0.21740	N	0.999561	D	0.67145	0.996	P	0.54372	0.75	T	0.73248	-0.4043	10	0.56958	D	0.05	-2.8329	7.0598	0.25119	0.0:0.8624:0.0:0.1376	.	58	P50402	EMD_HUMAN	C	58	ENSP00000358857:S58C	ENSP00000358857:S58C	S	+	2	0	EMD	153261334	0.352000	0.24895	0.024000	0.17045	0.005000	0.04900	1.923000	0.40055	0.765000	0.33221	0.436000	0.28706	TCT	EMD	-	NULL		0.667	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1	C			153608140	1	no_errors	ENST00000369842	ensembl	human	known	70_37	missense	SNP	0.046	G	G	153608140	C	G	153608140	3	3	15	1	0	0	0	0	1	0	0	0	5099	913	32	1	179	1	EMD	23	153608140	Missense_Mutation	SNP	C	TCGA-C5-A1M6-01A-11D-A13W-08	14021247	153608140	1662420	145	2532										
SLC45A1	50651	genome.wustl.edu	37	chr1	8399734	8399734	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	accttgccttactcgctgctCtgcgattactatcagagtaa	7	12	2	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:8399734C>A	ENST00000471889.1	+	8	2341	c.1956C>A	c.(1954-1956)ctC>ctA	p.L652L	SLC45A1_ENST00000289877.8_Silent_p.L652L|SLC45A1_ENST00000377479.2_Silent_p.L686L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	652					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCGCTGCTCTGCGATTACT	0.537																																																	0													171	161	165					1																	8399734		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1956C>A	1.37:g.8399734C>A			Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L686	ENST00000471889.1	37	c.2058	CCDS30577.1	1																																																																																			SLC45A1	-	superfamily_MFS_dom_general_subst_transpt		0.537	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	C			8399734	1	no_errors	ENST00000377479	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8399734	C	A	8399734	2	1	16	1	0	0	0	0	0	0	0	1	14670	900	32	3		3	SLC45A1	1	8399734	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		8399734	240850887	1	2533										
ENO1	2023	genome.wustl.edu	37	chr1	8923388	8923389	+	Frame_Shift_Ins	INS	-	-	G													0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gacgccccaaccattggcctINSgggccagcttgcacctggaa							TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:8923388_8923389insG	ENST00000234590.4	-	10	1200_1201	c.1081_1082insC	c.(1081-1083)cagfs	p.Q361fs		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	361					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ACCATTGGCCTGGGCCAGCTTG	0.569											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)												0																																										SO:0001589	frameshift_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1082dupC	1.37:g.8923391_8923391dupG	ENSP00000234590:p.Gln361fs	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Frame_Shift_Ins	INS	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.Q361fs	ENST00000234590.4	37	c.1082_1081	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.569	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	NM_001428		8923389	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	G	G	8923389	-	G	8923388	7	5	16	1	0	1	1	0	0	0	0	0	5133	1580	55	0	234	0	ENO1	1	8923388	Frame_Shift_Ins	INS	-	TCGA-C5-A1M7-01A-11D-A13W-08	523654	8923388	240327233	2	2534										
FBXO42	54455	genome.wustl.edu	37	chr1	16577862	16577862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tctgatctggtagtgatcctCgtcggggggccaaagaaagt	14	8	2	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:16577862C>T	ENST00000375592.3	-	10	1673	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	486										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TAGTGATCCTCGTCGGGGGGC	0.483																																																	0													59	61	60					1																	16577862		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1457G>A	1.37:g.16577862C>T	ENSP00000364742:p.Arg486Gln		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R486Q	ENST00000375592.3	37	c.1457	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940075	0.34283	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.51574	3.67;0.7;0.7	5.51	5.51	0.81932	.	0.322829	0.30142	N	0.010319	T	0.20170	0.0485	N	0.08118	0	0.38470	D	0.94743	P	0.38745	0.645	B	0.20184	0.028	T	0.22836	-1.0205	10	0.13108	T	0.6	-8.5261	12.1398	0.53993	0.0:0.922:0.0:0.078	.	486	Q6P3S6	FBX42_HUMAN	Q	486;204;204	ENSP00000364742:R486Q;ENSP00000415663:R204Q;ENSP00000412416:R204Q	ENSP00000364742:R486Q	R	-	2	0	FBXO42	16450449	1.000000	0.71417	0.974000	0.42286	0.883000	0.51084	2.148000	0.42235	2.763000	0.94921	0.650000	0.86243	CGA	FBXO42	-	NULL		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	C			16577862	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	0.986	T	T	16577862	C	T	16577862	3	4	16	1	0	0	0	0	1	0	0	0	5769	884	31	1	700	1	FBXO42	1	16577862	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	7654474	16577862	232672759	3	2535										
FBXO42	54455	genome.wustl.edu	37	chr1	16577905	16577905	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tattttcaggtcgtatccttCaggagcagatggagtacttg	11	7	2	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:16577905C>T	ENST00000375592.3	-	10	1630	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	472										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCGTATCCTTCAGGAGCAGAT	0.498																																																	0													44	49	47					1																	16577905		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1414G>A	1.37:g.16577905C>T	ENSP00000364742:p.Glu472Lys		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E472K	ENST00000375592.3	37	c.1414	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250797	0.59212	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.50548	3.79;0.74;0.74	5.51	5.51	0.81932	.	0.320735	0.31472	N	0.007591	T	0.32971	0.0847	N	0.22421	0.69	0.38965	D	0.958623	B	0.26635	0.155	B	0.15870	0.014	T	0.19516	-1.0303	10	0.08179	T	0.78	-8.5656	18.7669	0.91876	0.0:1.0:0.0:0.0	.	472	Q6P3S6	FBX42_HUMAN	K	472;190;190	ENSP00000364742:E472K;ENSP00000415663:E190K;ENSP00000412416:E190K	ENSP00000364742:E472K	E	-	1	0	FBXO42	16450492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.006000	0.63978	2.763000	0.94921	0.650000	0.86243	GAA	FBXO42	-	NULL		0.498	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	C			16577905	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16577905	C	T	16577905	3	4	16	1	0	0	0	0	1	0	0	0	5769	835	29	1	743	1	FBXO42	1	16577905	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	43	16577905	232672716	4	2536										
KIF17	57576	genome.wustl.edu	37	chr1	20998569	20998569	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aatcaggggctgcacctgctCcaggagctgctgcaagagca	13	12	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:20998569C>A	ENST00000247986.2	-	12	2894	c.2584G>T	c.(2584-2586)Gag>Tag	p.E862*	KIF17_ENST00000400463.3_Nonsense_Mutation_p.E862*|KIF17_ENST00000375044.1_Nonsense_Mutation_p.E762*|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	862					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCACCTGCTCCAGGAGCTGC	0.552																																																	0													83	75	78					1																	20998569		2203	4300	6503	SO:0001587	stop_gained	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2584G>T	1.37:g.20998569C>A	ENSP00000247986:p.Glu862*		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E862*	ENST00000247986.2	37	c.2584	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.813794	0.99271	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	.	.	.	5.94	5.04	0.67666	.	0.000000	0.32719	U	0.005729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.5251	0.67881	0.0:0.9301:0.0:0.0699	.	.	.	.	X	762;862;862;243	.	ENSP00000247986:E862X	E	-	1	0	KIF17	20871156	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.314000	0.59166	1.541000	0.49316	-0.224000	0.12420	GAG	KIF17	-	NULL		0.552	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	C	NM_020816		20998569	-1	no_errors	ENST00000247986	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	20998569	C	A	20998569	4	1	16	1	0	0	0	0	0	1	0	0	8299	864	30	3	521	3	KIF17	1	20998569	Nonsense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	4420664	20998569	228252052	5	2537										
GPATCH3	63906	genome.wustl.edu	37	chr1	27223812	27223812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ctcatctgagtgagactcttCttcctcttccttccccactt	4	16	5	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:27223812C>G	ENST00000361720.5	-	2	879	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	286	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGACTCTTCTTCCTCTTCC	0.507																																																	0													188	180	183					1																	27223812		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.856G>C	1.37:g.27223812C>G	ENSP00000354645:p.Glu286Gln		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E286Q	ENST00000361720.5	37	c.856	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895399	0.17613	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.53640	0.61	4.65	4.65	0.58169	.	0.239820	0.40469	N	0.001093	T	0.39759	0.1090	L	0.35723	1.085	0.37055	D	0.897772	B	0.20780	0.048	B	0.13407	0.009	T	0.40942	-0.9536	10	0.41790	T	0.15	-4.0616	15.9128	0.79485	0.0:1.0:0.0:0.0	.	286	Q96I76	GPTC3_HUMAN	Q	286;268;97	ENSP00000354645:E286Q	ENSP00000354645:E286Q	E	-	1	0	GPATCH3	27096399	0.988000	0.35896	0.773000	0.31616	0.084000	0.17831	3.461000	0.53035	2.392000	0.81423	0.655000	0.94253	GAA	GPATCH3	-	NULL		0.507	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27223812	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	0.914	G	G	27223812	C	G	27223812	3	3	16	1	0	0	0	0	1	0	0	0	6611	922	32	1	745	1	GPATCH3	1	27223812	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	6225243	27223812	222026809	6	2538										
MATN1	4146	genome.wustl.edu	37	chr1	31189126	31189126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	acactcttggatccgtcaatGaggaagaccaggtcagtggc	12	10	3	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:31189126G>A	ENST00000373765.4	-	5	872	c.837C>T	c.(835-837)ctC>ctT	p.L279L	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	279	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCGTCAATGAGGAAGACCA	0.557																																																	0													71	61	65					1																	31189126		2203	4300	6503	SO:0001819	synonymous_variant	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.837C>T	1.37:g.31189126G>A			B2R7E3|Q5TBB9	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A	p.L279	ENST00000373765.4	37	c.837	CCDS336.1	1																																																																																			MATN1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1	HGNC	protein_coding	OTTHUMT00000010458.1	G	NM_002379		31189126	-1	no_errors	ENST00000373765	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31189126	G	A	31189126	2	1	16	1	0	0	0	0	0	0	0	1	9356	1277	45	1		1	MATN1	1	31189126	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	3965314	31189126	218061495	7	2539										
PHC2	1912	genome.wustl.edu	37	chr1	33794581	33794581	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cccgcatatgcatgtcggggAgctccaggtcccgctggcct	13	15	0	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:33794581A>C	ENST00000257118.5	-	13	2365	c.2312T>G	c.(2311-2313)cTc>cGc	p.L771R	PHC2_ENST00000419414.2_Missense_Mutation_p.L772R|PHC2_ENST00000373416.1_Missense_Mutation_p.L236R|PHC2_ENST00000373422.3_Missense_Mutation_p.L377R|PHC2_ENST00000431992.1_Missense_Mutation_p.L742R|PHC2_ENST00000373418.3_Missense_Mutation_p.L236R|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000457957.2_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	771					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CATGTCGGGGAGCTCCAGGTC	0.577																																																	0													88	86	86					1																	33794581		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2312T>G	1.37:g.33794581A>C	ENSP00000257118:p.Leu771Arg		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.L772R	ENST00000257118.5	37	c.2315	CCDS378.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.01|14.01	2.407751|2.407751	0.42715|0.42715	.|.	.|.	ENSG00000134686|ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000419414;ENST00000373416|ENST00000307890	T;T;T;T|.	0.48201|.	1.83;1.4;0.82;1.82|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.381514|.	0.27976|.	N|.	0.017097|.	T|T	0.34658|0.34658	0.0905|0.0905	N|N	0.08118|0.08118	0|0	0.41378|0.41378	D|D	0.98753|0.98753	B;B;B;B|.	0.23185|.	0.02;0.02;0.02;0.081|.	B;B;B;B|.	0.23852|.	0.006;0.006;0.006;0.049|.	T|T	0.27365|0.27365	-1.0076|-1.0076	10|6	0.21014|0.08599	T|T	0.42|0.76	-13.1539|-13.1539	14.2004|14.2004	0.65699|0.65699	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	772;743;771;186|.	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3|.	.;.;PHC2_HUMAN;.|.	R|A	742;771;377;236;772;236|348	ENSP00000389436:L742R;ENSP00000257118:L771R;ENSP00000362521:L377R;ENSP00000391440:L772R|.	ENSP00000257118:L771R|ENSP00000310685:S348A	L|S	-|-	2|1	0|0	PHC2|PHC2	33567168|33567168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.272000|4.272000	0.58908|0.58908	2.237000|2.237000	0.73441|0.73441	0.459000|0.459000	0.35465|0.35465	CTC|TCC	PHC2	-	NULL		0.577	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	A	NM_198040		33794581	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33794581	A	C	33794581	3	2	16	1	0	0	0	0	1	0	0	0	11841	304	11	5	272	5	PHC2	1	33794581	Missense_Mutation	SNP	A	TCGA-C5-A1M7-01A-11D-A13W-08	2605455	33794581	215456040	8	2540										
RNF220	55182	genome.wustl.edu	37	chr1	45115398	45115398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tcgggtcagagaacttgaacGgcagctatctcgtggggacc	14	10	2	2	rs377270177		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:45115398G>A	ENST00000355387.2	+	13	1961	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	RNF220_ENST00000361799.2_Missense_Mutation_p.R504Q|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000443020.2_Missense_Mutation_p.R291Q|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Missense_Mutation_p.R504Q			Q5VTB9	RN220_HUMAN	ring finger protein 220	504					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GAACTTGAACGGCAGCTATCT	0.542																																																	0													137	129	132					1																	45115398		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1511G>A	1.37:g.45115398G>A	ENSP00000347548:p.Arg504Gln		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R504Q	ENST00000355387.2	37	c.1511	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084524	0.55861	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000440132;ENST00000335497;ENST00000372248	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.63	5.63	0.86233	.	0.060988	0.64402	D	0.000007	T	0.81322	0.4798	N	0.25647	0.755	0.80722	D	1	P;P;B;B;P	0.51240	0.943;0.661;0.013;0.154;0.682	B;B;B;B;B	0.37144	0.242;0.107;0.003;0.004;0.045	T	0.80039	-0.1549	10	0.16896	T	0.51	.	19.3296	0.94280	0.0:0.0:1.0:0.0	.	246;291;183;221;504	B4DJE2;B4DLZ9;D3DPZ1;C9JJY2;Q5VTB9	.;.;.;.;RN220_HUMAN	Q	504;504;504;504;291;220;246;247	ENSP00000347548:R504Q;ENSP00000354872:R504Q;ENSP00000361321:R504Q;ENSP00000414640:R291Q;ENSP00000388533:R220Q;ENSP00000335580:R246Q	ENSP00000335580:R246Q	R	+	2	0	RNF220	44887985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.566000	0.60843	2.672000	0.90937	0.485000	0.47835	CGG	RNF220	-	superfamily_Peptidase_M20_dimer		0.542	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	G	NM_018150		45115398	1	no_errors	ENST00000355387	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45115398	G	A	45115398	3	1	16	1	0	0	0	0	1	0	0	0	13513	1116	39	2	1557	2	RNF220	1	45115398	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	11320817	45115398	204135223	9	2541										
DOCK7	85440	genome.wustl.edu	37	chr1	63044519	63044519	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgtatatccaactggtgtttCaagaggagtattttgttttt	9	4	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:63044519C>T	ENST00000340370.5	-	17	2007	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	DOCK7_ENST00000251157.5_Missense_Mutation_p.E664K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	664	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTGGTGTTTCAAGAGGAGTA	0.308																																																	0													97	97	97					1																	63044519		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1990G>A	1.37:g.63044519C>T	ENSP00000340742:p.Glu664Lys		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E664K	ENST00000340370.5	37	c.1990	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.428570	0.96131	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.20598	2.07;2.06	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.91635	0.999;0.996;0.997;0.999	T	0.38929	-0.9638	10	0.59425	D	0.04	.	19.6873	0.95984	0.0:1.0:0.0:0.0	.	664;664;664;664	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	K	664	ENSP00000251157:E664K;ENSP00000340742:E664K	ENSP00000251157:E664K	E	-	1	0	DOCK7	62817107	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.890000	0.99128	0.585000	0.79938	GAA	DOCK7	-	NULL		0.308	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	C	NM_033407		63044519	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63044519	C	T	63044519	3	4	16	1	0	0	0	0	1	0	0	0	4702	835	29	1	4471	1	DOCK7	1	63044519	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	17929121	63044519	186206102	10	2542										
ALG6	29929	genome.wustl.edu	37	chr1	63902674	63902674	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	attccaaaagtggaagaaatCagaagaaaatcagctagctg	9	6	2	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:63902674C>G	ENST00000371108.4	+	15	1812	c.1507C>G	c.(1507-1509)Cag>Gag	p.Q503E	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_Missense_Mutation_p.Q505E	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	503					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.Q503K(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGAAGAAATCAGAAGAAAAT	0.323																																																	1	Substitution - Missense(1)	prostate(1)											70	68	69					1																	63902674		2203	4299	6502	SO:0001583	missense	29929			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1507C>G	1.37:g.63902674C>G	ENSP00000360149:p.Gln503Glu		B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.Q505E	ENST00000371108.4	37	c.1513	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291751	0.40594	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	T;T	0.70282	-0.47;-0.47	5.16	5.16	0.70880	.	0.444709	0.26532	N	0.023850	T	0.46229	0.1382	L	0.44542	1.39	0.28343	N	0.921261	B;B	0.23442	0.085;0.062	B;B	0.22386	0.039;0.024	T	0.24512	-1.0158	10	0.26408	T	0.33	-19.3598	13.5795	0.61893	0.1557:0.8443:0.0:0.0	.	250;505	B4DHV8;A2A2G4	.;.	E	503;505;250	ENSP00000360149:Q503E;ENSP00000263440:Q505E	ENSP00000263440:Q505E	Q	+	1	0	ALG6	63675262	1.000000	0.71417	0.992000	0.48379	0.894000	0.52154	2.543000	0.45752	2.583000	0.87209	0.484000	0.47621	CAG	ALG6	-	NULL		0.323	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	C	NM_013339		63902674	1	no_errors	ENST00000263440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63902674	C	G	63902674	3	3	16	1	0	0	0	0	1	0	0	0	522	827	29	1	1561	1	ALG6	1	63902674	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	858155	63902674	185347947	11	2543										
LRRC40	55631	genome.wustl.edu	37	chr1	70625092	70625092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tagtgtcatggcagtctcagTagcagactcactttggctag	11	9	3	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:70625092T>C	ENST00000370952.3	-	10	1220	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	381						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GCAGTCTCAGTAGCAGACTCA	0.303																																																	0													89	85	87					1																	70625092		2203	4300	6503	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1141A>G	1.37:g.70625092T>C	ENSP00000359990:p.Thr381Ala		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T381A	ENST00000370952.3	37	c.1141	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	T	0.498	-0.872034	0.02570	.	.	ENSG00000066557	ENST00000370952	T	0.32753	1.44	5.63	-7.19	0.01500	.	1.078540	0.07155	N	0.849792	T	0.03739	0.0106	N	0.17474	0.49	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.34725	-0.9817	10	0.08381	T	0.77	.	9.4894	0.38951	0.0:0.3046:0.3718:0.3235	.	381	Q9H9A6	LRC40_HUMAN	A	381	ENSP00000359990:T381A	ENSP00000359990:T381A	T	-	1	0	LRRC40	70397680	0.002000	0.14202	0.000000	0.03702	0.621000	0.37620	-0.413000	0.07123	-1.836000	0.01190	-1.139000	0.01908	ACT	LRRC40	-	NULL		0.303	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	T	NM_017768		70625092	-1	no_errors	ENST00000370952	ensembl	human	known	70_37	missense	SNP	0.000	C	C	70625092	T	C	70625092	3	2	16	1	0	0	0	0	1	0	0	0	9021	1638	57	5	691	5	LRRC40	1	70625092	Missense_Mutation	SNP	T	TCGA-C5-A1M7-01A-11D-A13W-08	6722418	70625092	178625529	12	2544										
AKNAD1	254268	genome.wustl.edu	37	chr1	109394361	109394361	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gttgtttttcaacacagtttGactcaggcgtggtttctaga	10	7	3	2	rs139331299	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:109394361G>C	ENST00000370001.3	-	2	1194	c.926C>G	c.(925-927)tCa>tGa	p.S309*	AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.S309*|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.S309*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	309						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AACACAGTTTGACTCAGGCGT	0.383																																																	0													227	222	224					1																	109394361		2203	4300	6503	SO:0001587	stop_gained	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.926C>G	1.37:g.109394361G>C	ENSP00000359018:p.Ser309*		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.S309*	ENST00000370001.3	37	c.926	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609549	0.87258	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	.	.	.	5.59	3.34	0.38264	.	0.979946	0.08358	N	0.958169	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-3.2947	3.104	0.06335	0.2981:0.2254:0.4765:0.0	.	.	.	.	X	309	.	ENSP00000359011:S309X	S	-	2	0	AKNAD1	109195884	0.002000	0.14202	0.011000	0.14972	0.003000	0.03518	1.139000	0.31504	1.484000	0.48361	0.655000	0.94253	TCA	AKNAD1	-	NULL		0.383	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	G	NM_152763		109394361	-1	no_errors	ENST00000370001	ensembl	human	known	70_37	nonsense	SNP	0.007	C	C	109394361	G	C	109394361	4	2	16	1	0	0	0	0	0	1	0	0	464	1294	45	1	1644	1	AKNAD1	1	109394361	Nonsense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	38769269	109394361	139856260	13	2545										
DENND2C	163259	genome.wustl.edu	37	chr1	115166155	115166155	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	atcttcatagatattgtcctCagactgtgtgtaataaagtg	8	6	3	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:115166155C>T	ENST00000393274.1	-	5	1541	c.916G>A	c.(916-918)Gag>Aag	p.E306K	DENND2C_ENST00000393277.1_Missense_Mutation_p.E306K|DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.E306K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	306					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATTGTCCTCAGACTGTGTG	0.358																																																	0													101	100	101					1																	115166155		2201	4300	6501	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.916G>A	1.37:g.115166155C>T	ENSP00000376955:p.Glu306Lys		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E306K	ENST00000393274.1	37	c.916	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976617	0.92982	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.41758	2.56;2.97;0.99	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.79805	2.47	0.53005	D	0.999969	D;D	0.89917	0.997;1.0	D;D	0.77557	0.955;0.99	T	0.69591	-0.5104	10	0.87932	D	0	.	17.4663	0.87633	0.0:0.8758:0.1242:0.0	.	306;306	Q68D51;Q68D51-3	DEN2C_HUMAN;.	K	306	ENSP00000376957:E306K;ENSP00000376955:E306K;ENSP00000376958:E306K	ENSP00000358553:E306K	E	-	1	0	DENND2C	114967678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.833000	0.48159	1.553000	0.49476	0.655000	0.94253	GAG	DENND2C	-	NULL		0.358	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115166155	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115166155	C	T	115166155	3	4	16	1	0	0	0	0	1	0	0	0	4440	835	29	1	1763	1	DENND2C	1	115166155	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	5771794	115166155	134084466	14	2546										
REG4	83998	genome.wustl.edu	37	chr1	120342438	120342438	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gtgctggcttcctttaaactCaggatagatgccaggtgggc	13	9	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:120342438C>T	ENST00000354219.1	-	5	652	c.213G>A	c.(211-213)ctG>ctA	p.L71L	REG4_ENST00000256585.5_Silent_p.L71L|REG4_ENST00000530654.1_Silent_p.L71L	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CCTTTAAACTCAGGATAGATG	0.498																																																	0													216	198	204					1																	120342438		2203	4300	6503	SO:0001819	synonymous_variant	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.213G>A	1.37:g.120342438C>T			Q8NER6|Q8NER7	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L71	ENST00000354219.1	37	c.213	CCDS906.1	1																																																																																			REG4	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.498	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	REG4	HGNC	protein_coding	OTTHUMT00000033675.1	C	NM_032044		120342438	-1	no_errors	ENST00000256585	ensembl	human	known	70_37	silent	SNP	0.002	T	T	120342438	C	T	120342438	2	4	16	1	0	0	0	0	0	0	0	1	13244	813	29	1		1	REG4	1	120342438	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	5176283	120342438	128908183	15	2547										
FLG	2312	genome.wustl.edu	37	chr1	152286055	152286055	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cctttccgtggcctgacactGattgtgtgtctgagttttct	10	10	2	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:152286055G>C	ENST00000368799.1	-	3	1342	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	436	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGACACTGATTGTGTGTC	0.592									Ichthyosis																																								0													210	207	208					1																	152286055		2203	4300	6503	SO:0001587	stop_gained	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1307C>G	1.37:g.152286055G>C	ENSP00000357789:p.Ser436*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S436*	ENST00000368799.1	37	c.1307	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	31	5.073501	0.94000	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.83	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	9.6354	0.39804	0.0:0.2123:0.7877:0.0	.	.	.	.	X	436	.	ENSP00000357789:S436X	S	-	2	0	FLG	150552679	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.099000	0.11007	0.923000	0.37045	0.505000	0.49811	TCA	FLG	-	NULL		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152286055	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	152286055	G	C	152286055	4	2	16	1	0	0	0	0	0	1	0	0	5940	1294	45	1	10882	1	FLG	1	152286055	Nonsense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	31943617	152286055	96964566	16	2548										
CRTC2	200186	genome.wustl.edu	37	chr1	153920586	153920586	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ggatggtgatgaggtgccctCattggagccggtcactgcgg	17	9	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:153920586C>T	ENST00000368633.1	-	14	2208	c.2081G>A	c.(2080-2082)tGa>tAa	p.*694*	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Silent_p.*374*	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	0					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGGTGCCCTCATTGGAGCCG	0.607																																																	0													71	59	63					1																	153920586		2203	4300	6503	SO:0001819	synonymous_variant	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.2081G>A	1.37:g.153920586C>T			Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	NULL	p.*694	ENST00000368633.1	37	c.2081	CCDS30875.1	1																																																																																			CRTC2	-	NULL		0.607	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	C	NM_181715		153920586	-1	no_errors	ENST00000368633	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153920586	C	T	153920586	2	4	16	1	0	0	0	0	0	0	0	1	3905	837	29	1		1	CRTC2	1	153920586	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	1634531	153920586	95330035	17	2549										
TRIM46	80128	genome.wustl.edu	37	chr1	155154367	155154367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tagccgctggggcgcaagccGagagcggctggctatcagca	16	12	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:155154367G>A	ENST00000334634.4	+	9	1628	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	TRIM46_ENST00000368382.1_Missense_Mutation_p.R520Q|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R417Q|TRIM46_ENST00000368383.3_Missense_Mutation_p.R543Q|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	543	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCGCAAGCCGAGAGCGGCTG	0.632																																																	0													45	47	46					1																	155154367		2172	4246	6418	SO:0001583	missense	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1628G>A	1.37:g.155154367G>A	ENSP00000334657:p.Arg543Gln		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.R543Q	ENST00000334634.4	37	c.1628	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179424	0.38511	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.64803	-0.12;0.56;0.33;0.38	4.06	4.06	0.47325	B30.2/SPRY domain (1);	0.166078	0.40640	N	0.001042	T	0.18087	0.0434	N	0.08118	0	0.28223	N	0.926443	P;P	0.40602	0.723;0.723	B;B	0.37833	0.259;0.259	T	0.04650	-1.0936	10	0.15952	T	0.53	.	7.8476	0.29435	0.1125:0.0:0.8875:0.0	.	543;543	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	Q	501;417;543;520;543	ENSP00000440254:R417Q;ENSP00000357367:R543Q;ENSP00000357366:R520Q;ENSP00000334657:R543Q	ENSP00000334657:R543Q	R	+	2	0	TRIM46	153420991	0.978000	0.34361	0.994000	0.49952	0.908000	0.53690	2.782000	0.47758	2.285000	0.76669	0.561000	0.74099	CGA	TRIM46	-	pfscan_B30.2/SPRY		0.632	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	G	NM_025058		155154367	1	no_errors	ENST00000334634	ensembl	human	known	70_37	missense	SNP	0.994	A	A	155154367	G	A	155154367	3	1	16	1	0	0	0	0	1	0	0	0	16552	1058	37	1	1662	1	TRIM46	1	155154367	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	1233781	155154367	94096254	18	2550										
SLC25A44	9673	genome.wustl.edu	37	chr1	156177684	156177684	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ccctggattccagagcagctCtcctacctgtgtcctaagga	9	14	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:156177684C>T	ENST00000359511.4	+	3	805	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SLC25A44_ENST00000423538.2_Silent_p.L188L|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	211					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CAGAGCAGCTCTCCTACCTGT	0.562																																																	0													144	121	129					1																	156177684		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.633C>T	1.37:g.156177684C>T			O75034	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L211	ENST00000359511.4	37	c.633	CCDS1133.1	1																																																																																			SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom		0.562	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	C	NM_014655		156177684	1	no_errors	ENST00000359511	ensembl	human	known	70_37	silent	SNP	0.997	T	T	156177684	C	T	156177684	2	4	16	1	0	0	0	0	0	0	0	1	14539	900	32	1		1	SLC25A44	1	156177684	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	1023317	156177684	93072937	19	2551										
AIM2	9447	genome.wustl.edu	37	chr1	159035774	159035774	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cgtgttgatcttcggggtttCaccagcttttctgataatgt	10	8	3	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:159035774C>T	ENST00000368130.4	-	4	1030	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	248	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTCGGGGTTTCACCAGCTTTT	0.413																																																	0													105	100	102					1																	159035774		2203	4300	6503	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.742G>A	1.37:g.159035774C>T	ENSP00000357112:p.Glu248Lys		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E248K	ENST00000368130.4	37	c.742	CCDS1181.1	1	.	.	.	.	.	.	.	.	.	.	C	1.314	-0.601390	0.03744	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.13778	2.56;2.56	3.34	2.31	0.28768	HIN-200/IF120x (2);	.	.	.	.	T	0.06645	0.0170	L	0.33753	1.03	0.09310	N	1	D	0.55605	0.972	P	0.56788	0.806	T	0.15407	-1.0438	9	0.09084	T	0.74	-7.4912	7.8452	0.29421	0.0:0.7421:0.2579:0.0	.	248	O14862	AIM2_HUMAN	K	248;111	ENSP00000357112:E248K;ENSP00000357111:E111K	ENSP00000357111:E111K	E	-	1	0	AIM2	157302398	0.000000	0.05858	0.016000	0.15963	0.010000	0.07245	-0.929000	0.03976	1.855000	0.53841	0.462000	0.41574	GAA	AIM2	-	pfam_HIN200/IF120x,superfamily_NA-bd_OB-fold-like,pfscan_HIN200/IF120x		0.413	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1	C	NM_004833		159035774	-1	no_errors	ENST00000368130	ensembl	human	known	70_37	missense	SNP	0.009	T	T	159035774	C	T	159035774	3	4	16	1	0	0	0	0	1	0	0	0	432	835	29	1	301	1	AIM2	1	159035774	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	2858090	159035774	90214847	20	2552										
PRELP	5549	genome.wustl.edu	37	chr1	203453017	203453017	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gcccacaacatcctgagaaaGatgccgcccagggtccccac	9	17	0	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:203453017G>T	ENST00000343110.2	+	2	832	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	235					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCTGAGAAAGATGCCGCCCA	0.552																																																	0													162	158	159					1																	203453017		2203	4300	6503	SO:0001583	missense	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.705G>T	1.37:g.203453017G>T	ENSP00000343924:p.Lys235Asn		Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.K235N	ENST00000343110.2	37	c.705	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501236	0.26861	.	.	ENSG00000188783	ENST00000343110	T	0.04406	3.63	4.77	3.86	0.44501	.	0.057230	0.64402	D	0.000002	T	0.03915	0.0110	L	0.28740	0.885	0.47949	D	0.999554	B	0.17268	0.021	B	0.13407	0.009	T	0.45760	-0.9239	10	0.20519	T	0.43	-18.9309	9.0177	0.36179	0.1812:0.0:0.8188:0.0	.	235	P51888	PRELP_HUMAN	N	235	ENSP00000343924:K235N	ENSP00000343924:K235N	K	+	3	2	PRELP	201719640	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	1.061000	0.30542	1.019000	0.39547	0.462000	0.41574	AAG	PRELP	-	smart_Leu-rich_rpt_typical-subtyp		0.552	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	G	NM_002725		203453017	1	no_errors	ENST00000343110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	203453017	G	T	203453017	3	4	16	1	0	0	0	0	1	0	0	0	12500	933	33	3	707	3	PRELP	1	203453017	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	44417243	203453017	45797604	21	2553										
HHIPL2	79802	genome.wustl.edu	37	chr1	222712018	222712018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gaagtctccaaagatatacaGgccattgagatttggggatt	11	6	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:222712018G>A	ENST00000343410.6	-	5	1607	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	517					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AAGATATACAGGCCATTGAGA	0.413																																																	0													116	100	106					1																	222712018		2203	4300	6503	SO:0001819	synonymous_variant	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1549C>T	1.37:g.222712018G>A			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.L517	ENST00000343410.6	37	c.1549	CCDS1530.2	1																																																																																			HHIPL2	-	pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH		0.413	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	G	NM_024746		222712018	-1	no_errors	ENST00000343410	ensembl	human	known	70_37	silent	SNP	1.000	A	A	222712018	G	A	222712018	2	1	16	1	0	0	0	0	0	0	0	1	7114	991	35	4		4	HHIPL2	1	222712018	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	19259001	222712018	26538603	22	2554										
ENAH	55740	genome.wustl.edu	37	chr1	225699534	225699534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aggtgtacttgttgaagaggCcttagaagttacaggctctg	13	6	1	3	rs549324711		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:225699534C>T	ENST00000366844.3	-	10	1901	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	ENAH_ENST00000284563.6_Missense_Mutation_p.A731T|ENAH_ENST00000366843.2_Missense_Mutation_p.A484T	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	484	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTGAAGAGGCCTTAGAAGTT	0.323													C|||	1	0.000199681	8e-04	0	5008	,	,		17044	0		0	False		,,,				2504	0																0													38	40	39					1																	225699534		2200	4297	6497	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1450G>A	1.37:g.225699534C>T	ENSP00000355809:p.Ala484Thr		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.A484T	ENST00000366844.3	37	c.1450	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664456	0.47572	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.42900	0.96;0.96;1.0	5.98	1.48	0.22813	.	0.455261	0.21789	N	0.069092	T	0.22666	0.0547	N	0.25426	0.745	0.33625	D	0.605328	B;B	0.32753	0.383;0.138	B;B	0.30943	0.122;0.074	T	0.22417	-1.0217	10	0.19590	T	0.45	-1.668	5.4363	0.16484	0.0:0.4559:0.2729:0.2711	.	484;484	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	T	484;484;731;446	ENSP00000355809:A484T;ENSP00000355808:A484T;ENSP00000284563:A731T	ENSP00000284563:A731T	A	-	1	0	ENAH	223766157	0.990000	0.36364	0.789000	0.31954	0.974000	0.67602	0.330000	0.19715	0.407000	0.25591	0.655000	0.94253	GCC	ENAH	-	NULL		0.323	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225699534	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	missense	SNP	0.520	T	T	225699534	C	T	225699534	3	4	16	1	0	0	0	0	1	0	0	0	5123	739	26	4	349	4	ENAH	1	225699534	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	2987516	225699534	23551087	23	2555										
OR2T6	254879	genome.wustl.edu	37	chr1	248550938	248550938	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aaacaatgaaaccttgaccaGaggctttaccctcatggggc	9	11	1	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:248550938G>A	ENST00000355728.2	+	1	29	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTGACCAGAGGCTTTACC	0.408																																																	0													112	112	112					1																	248550938		2203	4300	6503	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.29G>A	1.37:g.248550938G>A	ENSP00000347965:p.Arg10Lys		A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R10K	ENST00000355728.2	37	c.29	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000747	0.35320	.	.	ENSG00000198104	ENST00000355728	T	0.00362	7.84	4.9	1.48	0.22813	.	0.737577	0.12284	N	0.482643	T	0.00109	0.0003	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34875	-0.9811	10	0.72032	D	0.01	.	3.9511	0.09369	0.0976:0.4343:0.3319:0.1363	.	10	Q8NHC8	OR2T6_HUMAN	K	10	ENSP00000347965:R10K	ENSP00000347965:R10K	R	+	2	0	OR2T6	246617561	0.000000	0.05858	0.096000	0.21009	0.028000	0.11728	0.005000	0.13129	0.549000	0.28973	0.643000	0.83706	AGA	OR2T6	-	NULL		0.408	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	G	NM_001005471		248550938	1	no_errors	ENST00000355728	ensembl	human	known	70_37	missense	SNP	0.008	A	A	248550938	G	A	248550938	3	1	16	1	0	0	0	0	1	0	0	0	11053	942	33	1	31	1	OR2T6	1	248550938	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	22851404	248550938	699683	24	2556										
IL18RAP	8807	genome.wustl.edu	37	chr2	103040354	103040354	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tttgtgatttaccagagccaCagaaatcacatttctgccac	6	11	2	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:103040354C>T	ENST00000264260.2	+	4	743	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	52					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACCAGAGCCACAGAAATCACA	0.398																																																	0													64	63	63					2																	103040354		2203	4300	6503	SO:0001587	stop_gained	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.154C>T	2.37:g.103040354C>T	ENSP00000264260:p.Gln52*		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Nonsense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.Q52*	ENST00000264260.2	37	c.154	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.174292	0.97348	.	.	ENSG00000115607	ENST00000264260	.	.	.	3.93	2.1	0.27182	.	1.533070	0.03666	N	0.243328	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	5.7034	0.17895	0.0:0.6945:0.1975:0.108	.	.	.	.	X	52	.	ENSP00000264260:Q52X	Q	+	1	0	IL18RAP	102406786	0.000000	0.05858	0.001000	0.08648	0.345000	0.29048	-0.243000	0.08915	0.603000	0.29913	0.563000	0.77884	CAG	IL18RAP	-	NULL		0.398	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	C	NM_003853		103040354	1	no_errors	ENST00000264260	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	103040354	C	T	103040354	4	4	16	1	0	0	0	0	0	1	0	0	7668	479	17	4	160	4	IL18RAP	2	103040354	Nonsense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		103040354	140159019	25	2557										
KCNH7	90134	genome.wustl.edu	37	chr2	163694971	163694971	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	actttgcccttcaaatttccGaatgatggtccccagaaatg	7	11	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:163694971G>T	ENST00000332142.5	-	1	157	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	KCNH7_ENST00000328032.4_Silent_p.R20R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	20					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCAAATTTCCGAATGATGGTC	0.567																																					GBM(196;1492 2208 17507 24132 45496)												0													161	138	146					2																	163694971		2203	4300	6503	SO:0001819	synonymous_variant	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.58C>A	2.37:g.163694971G>T			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.R20	ENST00000332142.5	37	c.58	CCDS2219.1	2																																																																																			KCNH7	-	NULL		0.567	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	G	NM_033272		163694971	-1	no_errors	ENST00000332142	ensembl	human	known	70_37	silent	SNP	1.000	T	T	163694971	G	T	163694971	2	4	16	1	0	0	0	0	0	0	0	1	8057	1057	37	3		3	KCNH7	2	163694971	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	60654617	163694971	79504402	26	2558										
GPR155	151556	genome.wustl.edu	37	chr2	175330601	175330601	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tttttttctttaacaaaattCcatatcatcattccagcaca	1	10	3	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:175330601C>G	ENST00000392552.2	-	7	1534	c.1296G>C	c.(1294-1296)tgG>tgC	p.W432C	GPR155_ENST00000295500.4_Missense_Mutation_p.W432C|GPR155_ENST00000392551.2_Missense_Mutation_p.W432C	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	432					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TAACAAAATTCCATATCATCA	0.318																																																	0													39	42	41					2																	175330601		2202	4300	6502	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1296G>C	2.37:g.175330601C>G	ENSP00000376335:p.Trp432Cys		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.W432C	ENST00000392552.2	37	c.1296	CCDS2259.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227122	0.79576	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.51071	0.72;0.72;0.72	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68258	-0.5456	10	0.87932	D	0	-4.9426	18.7276	0.91720	0.0:1.0:0.0:0.0	.	432	Q7Z3F1	GP155_HUMAN	C	432	ENSP00000376335:W432C;ENSP00000376334:W432C;ENSP00000295500:W432C	ENSP00000295500:W432C	W	-	3	0	GPR155	175038847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.850000	0.98022	0.650000	0.86243	TGG	GPR155	-	NULL		0.318	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	C	NM_152529		175330601	-1	no_errors	ENST00000295500	ensembl	human	known	70_37	missense	SNP	1.000	G	G	175330601	C	G	175330601	3	3	16	1	0	0	0	0	1	0	0	0	6679	856	30	1	1356	1	GPR155	2	175330601	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	11635630	175330601	67868772	27	2559										
ANKRD44	91526	genome.wustl.edu	37	chr2	197990563	197990563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aatgataaaaatacccacctCcacgtggccgttcagagccg	8	13	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:197990563C>T	ENST00000328737.2	-	5	461	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ANKRD44_ENST00000409919.1_Missense_Mutation_p.E154K|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E154K|ANKRD44_ENST00000539527.1_Missense_Mutation_p.E82K|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E146K|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E129K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E129K			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	154										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATACCCACCTCCACGTGGCCG	0.507																																																	0													70	70	70					2																	197990563		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.385G>A	2.37:g.197990563C>T	ENSP00000331516:p.Glu129Lys		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E129K	ENST00000328737.2	37	c.385		2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548842	0.86127	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.27;-0.46	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	L	0.55103	1.725	0.80722	D	1	P;D	0.63046	0.723;0.992	P;D	0.71870	0.583;0.975	T	0.79843	-0.1632	10	0.66056	D	0.02	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	82;154	F5H682;Q8N8A2-3	.;.	K	146;129;129;129;154;82;154	ENSP00000282272:E146K;ENSP00000331516:E129K;ENSP00000402420:E129K;ENSP00000338794:E129K;ENSP00000387141:E154K;ENSP00000437825:E82K;ENSP00000387233:E154K	ENSP00000282272:E146K	E	-	1	0	ANKRD44	197698808	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	7.609000	0.82925	2.780000	0.95670	0.655000	0.94253	GAG	ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.507	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197990563	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197990563	C	T	197990563	3	4	16	1	0	0	0	0	1	0	0	0	672	864	30	1	2462	1	ANKRD44	2	197990563	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	22659962	197990563	45208810	28	2560										
ALS2	57679	genome.wustl.edu	37	chr2	202619275	202619275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cccttccttccctttcccccAggtccacacttctgttctca	3	20	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:202619275A>T	ENST00000264276.6	-	6	1963	c.1591T>A	c.(1591-1593)Tgg>Agg	p.W531R		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	531					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTTTCCCCCAGGTCCACACT	0.527																																																	0													102	106	104					2																	202619275		1972	4151	6123	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1591T>A	2.37:g.202619275A>T	ENSP00000264276:p.Trp531Arg		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.W531R	ENST00000264276.6	37	c.1591	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801455	0.90538	.	.	ENSG00000003393	ENST00000264276	D	0.92495	-3.05	5.78	5.78	0.91487	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.99478	1.0947	10	0.87932	D	0	.	16.1063	0.81225	1.0:0.0:0.0:0.0	.	531;531;531	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	R	531	ENSP00000264276:W531R	ENSP00000264276:W531R	W	-	1	0	ALS2	202327520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.714000	0.91412	2.197000	0.70478	0.533000	0.62120	TGG	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	A	NM_020919		202619275	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	202619275	A	T	202619275	3	4	16	1	0	0	0	0	1	0	0	0	550	188	7	5	3498	5	ALS2	2	202619275	Missense_Mutation	SNP	A	TCGA-C5-A1M7-01A-11D-A13W-08	4628712	202619275	40580098	29	2561			1	11		2	2	13	N	C_A	4.457738e-05
ALS2	57679	genome.wustl.edu	37	chr2	202619287	202619287	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tttcccccaggtccacacttCtgttctcagagaaggcagga	9	13	2	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:202619287C>A	ENST00000264276.6	-	6	1951	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	527					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.E527K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTCCACACTTCTGTTCTCAGA	0.542																																																	1	Substitution - Missense(1)	skin(1)											98	102	101					2																	202619287		1970	4156	6126	SO:0001587	stop_gained	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1579G>T	2.37:g.202619287C>A	ENSP00000264276:p.Glu527*		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.E527*	ENST00000264276.6	37	c.1579	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.105830	0.99338	.	.	ENSG00000003393	ENST00000264276	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	X	527	.	ENSP00000264276:E527X	E	-	1	0	ALS2	202327532	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.281000	0.78621	2.798000	0.96311	0.655000	0.94253	GAA	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.542	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	C	NM_020919		202619287	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	202619287	C	A	202619287	4	1	16	1	0	0	0	0	0	1	0	0	550	922	32	3	3510	3	ALS2	2	202619287	Nonsense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	12	202619287	40580086	30	2562			1	11		2	2	13	N	C_A	4.457738e-05
NRP2	8828	genome.wustl.edu	37	chr2	206630245	206630245	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ggacgttccggagagattgcCattgatgacattcggataag	13	7	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:206630245C>A	ENST00000357785.5	+	14	2386	c.2355C>A	c.(2353-2355)gcC>gcA	p.A785A	NRP2_ENST00000540178.1_Silent_p.A785A|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000360409.3_Silent_p.A785A|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000540841.1_Silent_p.A785A|NRP2_ENST00000357118.4_Silent_p.A785A|NRP2_ENST00000412873.2_Silent_p.A785A|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000272849.3_Silent_p.A785A			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGAGATTGCCATTGATGACA	0.468																																																	0													279	261	267					2																	206630245		2203	4300	6503	SO:0001819	synonymous_variant	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2355C>A	2.37:g.206630245C>A			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.A785	ENST00000357785.5	37	c.2355	CCDS46496.1	2																																																																																			NRP2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pirsf_Neuropilin,pfscan_MAM_dom,prints_MAM_dom		0.468	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	C			206630245	1	no_errors	ENST00000360409	ensembl	human	known	70_37	silent	SNP	1.000	A	A	206630245	C	A	206630245	2	1	16	1	0	0	0	0	0	0	0	1	10685	581	21	4		4	NRP2	2	206630245	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	4010958	206630245	36569128	31	2563										
BRPF1	7862	genome.wustl.edu	37	chr3	9784651	9784651	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cctgactacctagaccacatCaaaaagcccatggacttttt	5	13	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:9784651C>G	ENST00000457855.1	+	6	2018	c.2007C>G	c.(2005-2007)atC>atG	p.I669M	BRPF1_ENST00000383829.2_Missense_Mutation_p.I675M|BRPF1_ENST00000433861.2_Missense_Mutation_p.I669M|BRPF1_ENST00000424362.1_Missense_Mutation_p.I669M|BRPF1_ENST00000302054.3_Missense_Mutation_p.I669M			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	669	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TAGACCACATCAAAAAGCCCA	0.488																																																	0													58	59	59					3																	9784651		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2007C>G	3.37:g.9784651C>G	ENSP00000410210:p.Ile669Met		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.I675M	ENST00000457855.1	37	c.2025	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367314	0.41902	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.45	4.57	0.56435	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	H	0.99435	4.565	0.48135	D	0.999592	D;D;D;D	0.64830	0.994;0.989;0.989;0.991	D;D;D;D	0.77557	0.99;0.985;0.985;0.988	D	0.83611	0.0134	10	0.87932	D	0	.	9.2329	0.37448	0.0:0.7854:0.0:0.2146	.	669;669;675;669	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	M	669;669;675;669;669	ENSP00000402485:I669M;ENSP00000398863:I669M;ENSP00000373340:I675M;ENSP00000306297:I669M;ENSP00000410210:I669M	ENSP00000306297:I669M	I	+	3	3	BRPF1	9759651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.177000	0.31969	2.549000	0.85964	0.655000	0.94253	ATC	BRPF1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.488	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	C	NM_001003694		9784651	1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9784651	C	G	9784651	3	3	16	1	0	0	0	0	1	0	0	0	1523	816	29	1	2047	1	BRPF1	3	9784651	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		9784651	188237779	32	2564										
SETD2	29072	genome.wustl.edu	37	chr3	47098367	47098367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgtcacaccatagactgttgGacatgtctgtccttgataat	8	9	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:47098367G>A	ENST00000409792.3	-	15	6949	c.6907C>T	c.(6907-6909)Cca>Tca	p.P2303S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2303	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAGACTGTTGGACATGTCTGT	0.403			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													118	113	114					3																	47098367		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6907C>T	3.37:g.47098367G>A	ENSP00000386759:p.Pro2303Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.P2303S	ENST00000409792.3	37	c.6907	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452960	0.26161	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.38887	1.11	5.2	3.39	0.38822	.	0.360058	0.23779	N	0.044651	T	0.21881	0.0527	N	0.08118	0	0.23893	N	0.996547	B;B	0.13594	0.008;0.002	B;B	0.08055	0.003;0.002	T	0.14755	-1.0461	10	0.25106	T	0.35	.	11.29	0.49245	0.1495:0.0:0.8505:0.0	.	2303;2303	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	2303	ENSP00000386759:P2303S	ENSP00000386759:P2303S	P	-	1	0	SETD2	47073371	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	5.806000	0.69150	0.863000	0.35553	-0.150000	0.13652	CCA	SETD2	-	NULL		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47098367	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47098367	G	A	47098367	3	1	16	1	0	0	0	0	1	0	0	0	14161	1174	41	1	815	1	SETD2	3	47098367	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	37313716	47098367	150924063	33	2565										
RBM5	10181	genome.wustl.edu	37	chr3	50141706	50141706	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ccttaacaatttcaggaaaaGactaaaatgcttccgatgtg	7	8	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:50141706G>C	ENST00000347869.3	+	8	768	c.593G>C	c.(592-594)aGa>aCa	p.R198T		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	198					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGGAAAAGACTAAAATGC	0.403																																																	0													82	81	82					3																	50141706		2203	4300	6503	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.593G>C	3.37:g.50141706G>C	ENSP00000343054:p.Arg198Thr		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R198T	ENST00000347869.3	37	c.593	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.198935	0.94997	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	D	0.83419	-1.72	6.08	6.08	0.98989	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	M	0.90542	3.125	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.93483	0.6829	10	0.87932	D	0	-16.47	20.6721	0.99693	0.0:0.0:1.0:0.0	.	198	P52756	RBM5_HUMAN	T	198;197	ENSP00000343054:R198T	ENSP00000343054:R198T	R	+	2	0	RBM5	50116710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	AGA	RBM5	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.403	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50141706	1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50141706	G	C	50141706	3	2	16	1	0	0	0	0	1	0	0	0	13173	942	33	1	619	1	RBM5	3	50141706	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	3043339	50141706	147880724	34	2566										
DTX3L	151636	genome.wustl.edu	37	chr3	122287480	122287480	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gtggtgacttccaagacattGaaagaatacatcaatttttg	8	6	1	4			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:122287480G>C	ENST00000296161.4	+	3	733	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	182					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCAAGACATTGAAAGAATACA	0.438																																																	0													110	100	104					3																	122287480		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.544G>C	3.37:g.122287480G>C	ENSP00000296161:p.Glu182Gln		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E182Q	ENST00000296161.4	37	c.544	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075687	0.55646	.	.	ENSG00000163840	ENST00000296161	T	0.34072	1.38	5.5	4.63	0.57726	.	0.000000	0.52532	D	0.000064	T	0.28532	0.0706	L	0.36672	1.1	0.80722	D	1	P	0.49253	0.921	B	0.41271	0.352	T	0.03887	-1.0995	10	0.40728	T	0.16	-19.1227	11.2483	0.49010	0.0838:0.0:0.9162:0.0	.	182	Q8TDB6	DTX3L_HUMAN	Q	182	ENSP00000296161:E182Q	ENSP00000296161:E182Q	E	+	1	0	DTX3L	123770170	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.935000	0.48963	1.561000	0.49584	0.655000	0.94253	GAA	DTX3L	-	NULL		0.438	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	G	NM_138287		122287480	1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122287480	G	C	122287480	3	2	16	1	0	0	0	0	1	0	0	0	4806	1291	45	1	554	1	DTX3L	3	122287480	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	72145774	122287480	75734950	35	2567										
CCRL1	51554	genome.wustl.edu	37	chr3	132319907	132319907	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	atgggggtgtgctactttatCacagcaaggacactcatgaa	11	8	2	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:132319907C>T	ENST00000249887.2	+	2	762	c.666C>T	c.(664-666)atC>atT	p.I222I	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GCTACTTTATCACAGCAAGGA	0.403																																																	0													79	78	78					3																	132319907		2203	4298	6501	SO:0001819	synonymous_variant	51554			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.666C>T	3.37:g.132319907C>T			B2R9U7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR11,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.I222	ENST00000249887.2	37	c.666	CCDS3075.1	3																																																																																			CCRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.403	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL1	HGNC	protein_coding	OTTHUMT00000357238.2	C	NM_016557		132319907	1	no_errors	ENST00000249887	ensembl	human	known	70_37	silent	SNP	0.000	T	T	132319907	C	T	132319907	2	4	16	1	0	0	0	0	0	0	0	1	2954	816	29	1		1	CCRL1	3	132319907	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	10032427	132319907	65702523	36	2568										
FAIM	55179	genome.wustl.edu	37	chr3	138341033	138341033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tctgttttattatgtaggaaGagataagaaaagagtggatg	12	1	1	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:138341033G>A	ENST00000393035.2	+	3	224	c.115G>A	c.(115-117)Gag>Aag	p.E39K	FAIM_ENST00000464668.1_Missense_Mutation_p.E39K|FAIM_ENST00000338446.4_Missense_Mutation_p.E73K|FAIM_ENST00000393034.2_Missense_Mutation_p.E39K|FAIM_ENST00000360570.3_Missense_Mutation_p.E61K	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	39					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						TATGTAGGAAGAGATAAGAAA	0.318																																																	0													44	47	46					3																	138341033		2201	4299	6500	SO:0001583	missense	55179			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.115G>A	3.37:g.138341033G>A	ENSP00000376755:p.Glu39Lys		Q6IAN2	Missense_Mutation	SNP	pfam_FAIM	p.E73K	ENST00000393035.2	37	c.217	CCDS3103.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921607	0.52653	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.91	5.03	0.67393	.	0.307761	0.34906	N	0.003599	T	0.19366	0.0465	N	0.16478	0.41	0.31163	N	0.704154	B;B;B;B	0.11235	0.001;0.002;0.004;0.001	B;B;B;B	0.12156	0.007;0.002;0.006;0.007	T	0.09862	-1.0655	10	0.62326	D	0.03	-8.6307	8.9645	0.35867	0.1658:0.0:0.8342:0.0	.	39;61;73;39	Q9NVQ4;Q9NVQ4-3;Q9NVQ4-2;C9JDZ2	FAIM1_HUMAN;.;.;.	K	73;61;39;39;39;39	ENSP00000342805:E73K;ENSP00000353775:E61K;ENSP00000376755:E39K;ENSP00000376754:E39K;ENSP00000417642:E39K;ENSP00000420543:E39K	ENSP00000342805:E73K	E	+	1	0	FAIM	139823723	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.031000	0.41117	1.498000	0.48600	0.650000	0.86243	GAG	FAIM	-	pfam_FAIM		0.318	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	G	NM_001033032		138341033	1	no_errors	ENST00000338446	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138341033	G	A	138341033	3	1	16	1	0	0	0	0	1	0	0	0	5390	943	33	1	275	1	FAIM	3	138341033	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	6021126	138341033	59681397	37	2569										
TBL1XR1	79718	genome.wustl.edu	37	chr3	176769478	176769478	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tacggcatctatcagggacaGagactctattggtcgaccat	10	10	3	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:176769478G>C	ENST00000430069.1	-	5	500	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.L81V			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	81	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATCAGGGACAGAGACTCTATT	0.403																																																	0													51	45	47					3																	176769478		1877	4109	5986	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.241C>G	3.37:g.176769478G>C	ENSP00000405574:p.Leu81Val		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L81V	ENST00000430069.1	37	c.241	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577407	0.65878	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000352800;ENST00000437738;ENST00000450267;ENST00000431674;ENST00000422066;ENST00000443315	T;T	0.56275	0.47;0.47	5.52	1.2	0.21068	.	0.000000	0.64402	D	0.000001	T	0.65821	0.2728	M	0.76002	2.32	0.53688	D	0.999971	D	0.61080	0.989	D	0.63192	0.912	T	0.66658	-0.5868	10	0.56958	D	0.05	-1.7322	10.9376	0.47253	0.3048:0.0:0.6952:0.0	.	81	Q9BZK7	TBL1R_HUMAN	V	81	ENSP00000405574:L81V;ENSP00000413251:L81V	ENSP00000263964:L81V	L	-	1	2	TBL1XR1	178252172	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.126000	0.42026	0.312000	0.23038	0.557000	0.71058	CTG	TBL1XR1	-	NULL		0.403	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	G	NM_024665		176769478	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	0.997	C	C	176769478	G	C	176769478	3	2	16	1	0	0	0	0	1	0	0	0	15670	933	33	1	1351	1	TBL1XR1	3	176769478	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	38428445	176769478	21252952	38	2570										
TACC3	10460	genome.wustl.edu	37	chr4	1730122	1730122	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ggccaaatggccagctcctcGaggagcggacctgtaaaact	12	12	0	0	rs368079610		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr4:1730122G>C	ENST00000313288.4	+	4	1099	c.993G>C	c.(991-993)tcG>tcC	p.S331S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	331					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S331S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCAGCTCCTCGAGGAGCGGAC	0.597																																					Ovarian(120;482 2294 11894 35824)												1	Substitution - coding silent(1)	lung(1)											32	37	35					4																	1730122		2203	4298	6501	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.993G>C	4.37:g.1730122G>C			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	pfam_TACC	p.S331	ENST00000313288.4	37	c.993	CCDS3352.1	4																																																																																			TACC3	-	NULL		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	G			1730122	1	no_errors	ENST00000313288	ensembl	human	known	70_37	silent	SNP	0.000	C	C	1730122	G	C	1730122	2	2	16	1	0	0	0	0	0	0	0	1	15533	1045	37	1		1	TACC3	4	1730122	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		1730122	189424154	39	2571										
RUFY3	22902	genome.wustl.edu	37	chr4	71588332	71588332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	accgatatgccaacccccacCactgacaagatcacacaggc	6	17	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr4:71588332C>T	ENST00000226328.4	+	1	605	c.42C>T	c.(40-42)acC>acT	p.T14T	RUFY3_ENST00000536664.1_5'Flank|RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_Silent_p.T14T	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	14					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAACCCCCACCACTGACAAGA	0.542																																																	0													197	165	176					4																	71588332		2203	4300	6503	SO:0001819	synonymous_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.42C>T	4.37:g.71588332C>T			B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.T14	ENST00000226328.4	37	c.42	CCDS3547.1	4																																																																																			RUFY3	-	NULL		0.542	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	C	NM_014961		71588332	1	no_errors	ENST00000226328	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71588332	C	T	71588332	2	4	16	1	0	0	0	0	0	0	0	1	13770	581	21	4		4	RUFY3	4	71588332	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	69858210	71588332	119565944	40	2572										
USP53	54532	genome.wustl.edu	37	chr4	120192932	120192932	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ccaaagcaaaaaggtttaatGaccatatatgaagatgaaat	7	5	0	4			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr4:120192932G>A	ENST00000274030.6	+	16	3096	c.1917G>A	c.(1915-1917)atG>atA	p.M639I	USP53_ENST00000450251.1_Missense_Mutation_p.M639I	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AAGGTTTAATGACCATATATG	0.363																																																	0													105	95	98					4																	120192932		1837	4089	5926	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1917G>A	4.37:g.120192932G>A	ENSP00000274030:p.Met639Ile			Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.M639I	ENST00000274030.6	37	c.1917	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866762	0.72065	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.49720	0.77;0.77	5.58	5.58	0.84498	.	0.096253	0.64402	D	0.000003	T	0.50888	0.1642	M	0.74881	2.28	0.46823	D	0.999213	P	0.36599	0.56	B	0.33121	0.158	T	0.58109	-0.7694	10	0.66056	D	0.02	-13.2326	17.7465	0.88422	0.0:0.0:1.0:0.0	.	639	Q70EK8	UBP53_HUMAN	I	639	ENSP00000274030:M639I;ENSP00000409906:M639I	ENSP00000274030:M639I	M	+	3	0	USP53	120412380	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.184000	0.94893	2.619000	0.88677	0.563000	0.77884	ATG	USP53	-	NULL		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	G	XM_052597		120192932	1	no_errors	ENST00000274030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120192932	G	A	120192932	3	1	16	1	0	0	0	0	1	0	0	0	17115	1290	45	1	1963	1	USP53	4	120192932	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	48604600	120192932	70961344	41	2573										
SEMA5A	9037	genome.wustl.edu	37	chr5	9119177	9119177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	agtggggttgctgcaggagcGctgccgcacctggaagccga	17	11	0	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:9119177G>A	ENST00000382496.5	-	15	2523	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	620	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGCAGGAGCGCTGCCGCACC	0.667																																																	0													44	42	43					5																	9119177		2203	4300	6503	SO:0001583	missense	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1858C>T	5.37:g.9119177G>A	ENSP00000371936:p.Arg620Cys		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.R620C	ENST00000382496.5	37	c.1858	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348054	0.82132	.	.	ENSG00000112902	ENST00000382496	T	0.65549	-0.16	5.33	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88334	0.2970	10	0.87932	D	0	.	11.4714	0.50270	0.0:0.0:0.5257:0.4742	.	620	Q13591	SEM5A_HUMAN	C	620	ENSP00000371936:R620C	ENSP00000371936:R620C	R	-	1	0	SEMA5A	9172177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.752000	0.55172	0.594000	0.29761	0.557000	0.71058	CGC	SEMA5A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.667	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	G			9119177	-1	no_errors	ENST00000382496	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9119177	G	A	9119177	3	1	16	1	0	0	0	0	1	0	0	0	14067	1087	38	2	1402	2	SEMA5A	5	9119177	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		9119177	171796083	42	2574										
DNAH5	1767	genome.wustl.edu	37	chr5	13868031	13868031	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gcttctcccaagcatagtgcAgtgtatcaactttgtctatc	7	11	3	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:13868031A>T	ENST00000265104.4	-	25	4009	c.3905T>A	c.(3904-3906)cTg>cAg	p.L1302Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1302	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCATAGTGCAGTGTATCAAC	0.408									Kartagener syndrome																																								0			GRCh37	CD065703	DNAH5	D							122	104	110					5																	13868031		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3905T>A	5.37:g.13868031A>T	ENSP00000265104:p.Leu1302Gln		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1302Q	ENST00000265104.4	37	c.3905	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242813	0.79912	.	.	ENSG00000039139	ENST00000265104	T	0.31247	1.5	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000003	T	0.64627	0.2615	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74985	-0.3477	10	0.87932	D	0	.	14.9244	0.70866	1.0:0.0:0.0:0.0	.	1302	Q8TE73	DYH5_HUMAN	Q	1302	ENSP00000265104:L1302Q	ENSP00000265104:L1302Q	L	-	2	0	DNAH5	13921031	1.000000	0.71417	0.759000	0.31340	0.827000	0.46813	8.848000	0.92172	1.941000	0.56285	0.533000	0.62120	CTG	DNAH5	-	NULL		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	A	NM_001369		13868031	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.998	T	T	13868031	A	T	13868031	3	4	16	1	0	0	0	0	1	0	0	0	4614	188	7	5	10189	5	DNAH5	5	13868031	Missense_Mutation	SNP	A	TCGA-C5-A1M7-01A-11D-A13W-08	4748854	13868031	167047229	43	2575										
ISL1	3670	genome.wustl.edu	37	chr5	50685569	50685569	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gcgtgcggactgtgctgaacGagaagcagctgcacaccttg	14	11	0	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:50685569G>C	ENST00000230658.7	+	4	1153	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	ISL1_ENST00000511384.1_Missense_Mutation_p.E190Q|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	190					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.E190K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTGCTGAACGAGAAGCAGCT	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											60	67	64					5																	50685569		2203	4300	6503	SO:0001583	missense	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.568G>C	5.37:g.50685569G>C	ENSP00000230658:p.Glu190Gln		P20663|P47894	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.E190Q	ENST00000230658.7	37	c.568	CCDS43314.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.791033|4.791033	0.90367|0.90367	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384|ENST00000505475	D;D|.	0.96041|.	-3.89;-3.89|.	5.82|5.82	4.94|4.94	0.65067|0.65067	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55433|0.55433	0.1920|0.1920	N|N	0.20530|0.20530	0.585|0.585	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.62044|0.62044	-0.6937|-0.6937	10|6	0.66056|0.87932	D|D	0.02|0	.|.	16.2589|16.2589	0.82530|0.82530	0.0:0.0:0.8661:0.1339|0.0:0.0:0.8661:0.1339	.|.	190|.	P61371|.	ISL1_HUMAN|.	Q|P	190|136	ENSP00000230658:E190Q;ENSP00000422676:E190Q|.	ENSP00000230658:E190Q|ENSP00000421737:R136P	E|R	+|+	1|2	0|0	ISL1|ISL1	50721326|50721326	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.985000|0.985000	0.73830|0.73830	9.748000|9.748000	0.98867|0.98867	1.431000|1.431000	0.47355|0.47355	-0.188000|-0.188000	0.12872|0.12872	GAG|CGA	ISL1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.672	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	G	NM_002202		50685569	1	no_errors	ENST00000230658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50685569	G	C	50685569	3	2	16	1	0	0	0	0	1	0	0	0	7876	1059	37	1	582	1	ISL1	5	50685569	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	36817538	50685569	130229691	44	2576										
NDUFS4	4724	genome.wustl.edu	37	chr5	52979020	52979020	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ttatggtgcaaacttttcttGgaacaaaagaacaagagtat	8	5	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:52979020G>C	ENST00000296684.5	+	5	525	c.497G>C	c.(496-498)tGg>tCg	p.W166S		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	166					brain development (GO:0007420)|cAMP-mediated signaling (GO:0019933)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|positive regulation of fibroblast proliferation (GO:0048146)|reactive oxygen species metabolic process (GO:0072593)|regulation of protein phosphorylation (GO:0001932)|respiratory electron transport chain (GO:0022904)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)				AACTTTTCTTGGAACAAAAGA	0.388																																																	0													108	113	111					5																	52979020		2203	4300	6503	SO:0001583	missense	4724			AF020351	CCDS3960.1	5q11.1	2011-07-04	2002-08-29		ENSG00000164258	ENSG00000164258		"Mitochondrial respiratory chain complex / Complex I"	7711	protein-coding gene	gene with protein product	"complex I 18kDa subunit"	602694	"NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)"			9463323, 9763677	Standard	NM_002495		Approved	AQDQ, CI-18	uc003jpe.2	O43181	OTTHUMG00000096987	ENST00000296684.5:c.497G>C	5.37:g.52979020G>C	ENSP00000296684:p.Trp166Ser		Q9BS69	Missense_Mutation	SNP	pfam_NADH_UbQ_FeS_4_mit	p.W166S	ENST00000296684.5	37	c.497	CCDS3960.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373218	0.82573	.	.	ENSG00000164258	ENST00000296684	T	0.76709	-1.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86731	0.1948	10	0.48119	T	0.1	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	166	O43181	NDUS4_HUMAN	S	166	ENSP00000296684:W166S	ENSP00000296684:W166S	W	+	2	0	NDUFS4	53014777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.826000	0.97356	0.655000	0.94253	TGG	NDUFS4	-	pfam_NADH_UbQ_FeS_4_mit		0.388	NDUFS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS4	HGNC	protein_coding	OTTHUMT00000214062.2	G	NM_002495		52979020	1	no_errors	ENST00000296684	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52979020	G	C	52979020	3	2	16	1	0	0	0	0	1	0	0	0	10318	1357	47	4	515	4	NDUFS4	5	52979020	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	2293451	52979020	127936240	45	2577										
ACOT12	134526	genome.wustl.edu	37	chr5	80626633	80626633	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	agatgtttcatcaaacttacGatgcatgaattgctgtcaat	7	7	3	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:80626633G>A	ENST00000307624.3	-	14	1546	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	506	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCAAACTTACGATGCATGAAT	0.398																																																	0													81	76	77					5																	80626633		2203	4300	6503	SO:0001630	splice_region_variant	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1518+1C>T	5.37:g.80626633G>A			B3KVK9|Q5FWE9	Silent	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd	p.I506	ENST00000307624.3	37	c.1518	CCDS4055.1	5																																																																																			ACOT12	-	pfam_START_lipid-bd,pfscan_START_lipid-bd		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	G	NM_130767	Silent	80626633	-1	no_errors	ENST00000307624	ensembl	human	known	70_37	silent	SNP	0.185	A	A	80626633	G	A	80626633	5	1	16	1	0	0	0	0	0	0	1	0	150	1072	37	1	157	1	ACOT12	5	80626633	Splice_Site	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	27647613	80626633	100288627	46	2578										
FBN2	2201	genome.wustl.edu	37	chr5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	caccttggcaagctccagtgCggatgttggggatgaaaccc	13	11	0	1	rs148971572	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:127800434C>T	ENST00000508053.1	-	12	1783	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_ENST00000262464.4_Missense_Mutation_p.R270H|FBN2_ENST00000508989.1_Missense_Mutation_p.R237H			P35556	FBN2_HUMAN	fibrillin 2	270					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592													C|||	2	0.000399361	0.0015	0	5008	,	,		16211	0		0	False		,,,				2504	0																0								C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	91	85	87		809	5.1	1	5	dbSNP_134	87	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	270/2913	127800434	5,13001	2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.809G>A	5.37:g.127800434C>T	ENSP00000424571:p.Arg270His		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R270H	ENST00000508053.1	37	c.809	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919560	0.73098	0.001135	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.87334	-2.24;-2.24;-2.24;-0.66	5.07	5.07	0.68467	Matrix fibril-associated (2);	0.153856	0.43110	D	0.000619	D	0.86785	0.6016	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.972;0.987;0.987	D	0.86427	0.1758	10	0.28530	T	0.3	.	19.3313	0.94291	0.0:1.0:0.0:0.0	.	237;270;237;270	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	H	270;270;237;270	ENSP00000262464:R270H;ENSP00000424571:R270H;ENSP00000425596:R237H;ENSP00000424753:R270H	ENSP00000262464:R270H	R	-	2	0	FBN2	127828333	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.729000	0.84864	2.737000	0.93849	0.585000	0.79938	CGC	FBN2	-	superfamily_TB_dom,pirsf_FBN		0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127800434	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127800434	C	T	127800434	3	4	16	1	0	0	0	0	1	0	0	0	5721	768	27	2	8169	2	FBN2	5	127800434	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	47173801	127800434	53114826	47	2579										
PCDHB15	56121	genome.wustl.edu	37	chr5	140627400	140627400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tttcccagagctaccagtacGaggtgtgtctgacgggaggc	14	10	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:140627400G>A	ENST00000231173.3	+	1	2254	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	752					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.552																																																	0													111	124	120					5																	140627400		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2254G>A	5.37:g.140627400G>A	ENSP00000231173:p.Glu752Lys		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E752K	ENST00000231173.3	37	c.2254	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705997	0.68615	.	.	ENSG00000113248	ENST00000231173	T	0.14766	2.48	4.34	4.34	0.51931	.	.	.	.	.	T	0.19685	0.0473	M	0.75884	2.315	0.48511	D	0.999663	P	0.41345	0.746	B	0.36504	0.226	T	0.12863	-1.0531	9	0.59425	D	0.04	.	16.8736	0.86045	0.0:0.0:1.0:0.0	.	752	Q9Y5E8	PCDBF_HUMAN	K	752	ENSP00000231173:E752K	ENSP00000231173:E752K	E	+	1	0	PCDHB15	140607584	0.998000	0.40836	0.998000	0.56505	0.854000	0.48673	3.144000	0.50616	2.150000	0.67090	0.556000	0.70494	GAG	PCDHB15	-	NULL		0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	G	NM_018935		140627400	1	no_errors	ENST00000231173	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140627400	G	A	140627400	3	1	16	1	0	0	0	0	1	0	0	0	11564	1059	37	1	2256	1	PCDHB15	5	140627400	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	12826966	140627400	40287860	48	2580										
GTPBP2	54676	genome.wustl.edu	37	chr6	43591721	43591721	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tcctgctctttgctgttggtGagtggcggcagaatattcag	13	8	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:43591721G>A	ENST00000307126.5	-	8	1184	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	GTPBP2_ENST00000307114.7_Silent_p.L307L|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGCTGTTGGTGAGTGGCGGCA	0.527																																					GBM(116;405 1620 28302 32150 44768)												0													125	122	123					6																	43591721		2203	4300	6503	SO:0001819	synonymous_variant	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1185C>T	6.37:g.43591721G>A				Silent	SNP	pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.L395	ENST00000307126.5	37	c.1185	CCDS4903.1	6																																																																																			GTPBP2	-	NULL		0.527	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	G			43591721	-1	no_errors	ENST00000307126	ensembl	human	known	70_37	silent	SNP	0.961	A	A	43591721	G	A	43591721	2	1	16	1	0	0	0	0	0	0	0	1	6900	1277	45	1		1	GTPBP2	6	43591721	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		43591721	127523346	49	2581										
PHIP	55023	genome.wustl.edu	37	chr6	79650622	79650622	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ttcttcaaactcttcttcctCatctataggatcatctatct	2	12	9	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:79650622C>T	ENST00000275034.4	-	40	5421	c.5254G>A	c.(5254-5256)Gag>Aag	p.E1752K	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1752	Poly-Glu.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTTCTTCCTCATCTATAGGA	0.398																																																	0													411	407	408					6																	79650622		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5254G>A	6.37:g.79650622C>T	ENSP00000275034:p.Glu1752Lys		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1752K	ENST00000275034.4	37	c.5254	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818960	0.32145	.	.	ENSG00000146247	ENST00000275034	T	0.39997	1.05	6.07	5.2	0.72013	.	0.284081	0.31566	N	0.007430	T	0.13329	0.0323	N	0.19112	0.55	0.39258	D	0.964165	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.07829	-1.0752	9	.	.	.	-7.8428	13.1766	0.59630	0.0:0.9233:0.0:0.0767	.	1752;1752	A7J992;Q8WWQ0	.;PHIP_HUMAN	K	1752	ENSP00000275034:E1752K	.	E	-	1	0	PHIP	79707341	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.485000	0.60279	1.583000	0.49898	0.650000	0.86243	GAG	PHIP	-	NULL		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	C			79650622	-1	no_errors	ENST00000275034	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79650622	C	T	79650622	3	4	16	1	0	0	0	0	1	0	0	0	11866	835	29	1	215	1	PHIP	6	79650622	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	36058901	79650622	91464445	50	2582										
FNDC1	84624	genome.wustl.edu	37	chr6	159655334	159655334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tcccttcccgactgccgcctCgcagcgctgccaccgtgagc	10	20	0	1	rs370423767		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:159655334C>T	ENST00000297267.9	+	11	3990	c.3790C>T	c.(3790-3792)Cgc>Tgc	p.R1264C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1201C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1264					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACTGCCGCCTCGCAGCGCTGC	0.736																																																	0								C	CYS/ARG	0,3966		0,0,1983	10	13	12		3790	2.1	0	6		12	1,8217		0,1,4108	no	missense	FNDC1	NM_032532.2	180	0,1,6091	TT,TC,CC		0.0122,0.0,0.0082	probably-damaging	1264/1895	159655334	1,12183	1983	4109	6092	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3790C>T	6.37:g.159655334C>T	ENSP00000297267:p.Arg1264Cys		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1264C	ENST00000297267.9	37	c.3790	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530889|2.530889	0.45073|0.45073	0.0|0.0	1.22E-4|1.22E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09538|.	2.97;3.75|.	4.87|4.87	2.1|2.1	0.27182|0.27182	.|.	1.607750|.	0.03413|.	N|.	0.205095|.	T|T	0.10937|0.10937	0.0267|0.0267	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.67231|.	0.95;0.858|.	T|T	0.29212|0.29212	-1.0019|-1.0019	10|5	0.66056|.	D|.	0.02|.	-7.7282|-7.7282	4.582|4.582	0.12264|0.12264	0.1583:0.6057:0.1527:0.0834|0.1583:0.6057:0.1527:0.0834	.|.	1201;1264|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	C|L	1264;1201|1159	ENSP00000297267:R1264C;ENSP00000342460:R1201C|.	ENSP00000297267:R1264C|.	R|S	+|+	1|2	0|0	FNDC1|FNDC1	159575324|159575324	0.001000|0.001000	0.12720|0.12720	0.032000|0.032000	0.17829|0.17829	0.130000|0.130000	0.20726|0.20726	0.494000|0.494000	0.22467|0.22467	0.475000|0.475000	0.27415|0.27415	0.557000|0.557000	0.71058|0.71058	CGC|TCG	FNDC1	-	NULL		0.736	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159655334	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.004	T	T	159655334	C	T	159655334	3	4	16	1	0	0	0	0	1	0	0	0	5986	884	31	1	3832	1	FNDC1	6	159655334	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	80004712	159655334	11459733	51	2583										
C6orf118	168090	genome.wustl.edu	37	chr6	165715629	165715629	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgttggggttcaggtgtccaGagatgtagaggtagacgtcc	16	6	1	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:165715629G>C	ENST00000230301.8	-	2	202	c.182C>G	c.(181-183)tCt>tGt	p.S61C	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	61										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAGGTGTCCAGAGATGTAGAG	0.577																																																	0													110	121	117					6																	165715629		2203	4300	6503	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.182C>G	6.37:g.165715629G>C	ENSP00000230301:p.Ser61Cys		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.S61C	ENST00000230301.8	37	c.182	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870708	0.33069	.	.	ENSG00000112539	ENST00000230301	T	0.15372	2.43	5.31	4.39	0.52855	.	0.295570	0.28895	N	0.013782	T	0.28599	0.0708	M	0.65975	2.015	0.33460	D	0.58481	D	0.89917	1.0	D	0.76575	0.988	T	0.03957	-1.0989	10	0.87932	D	0	.	12.6969	0.57010	0.0:0.1659:0.8341:0.0	.	61	Q5T5N4	CF118_HUMAN	C	61	ENSP00000230301:S61C	ENSP00000230301:S61C	S	-	2	0	C6orf118	165635619	0.974000	0.33945	0.020000	0.16555	0.051000	0.14879	3.416000	0.52707	2.484000	0.83849	0.655000	0.94253	TCT	C6orf118	-	NULL		0.577	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	G	NM_144980		165715629	-1	no_errors	ENST00000230301	ensembl	human	known	70_37	missense	SNP	0.142	C	C	165715629	G	C	165715629	3	2	16	1	0	0	0	0	1	0	0	0	2328	942	33	1	1259	1	C6orf118	6	165715629	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	6060295	165715629	5399438	52	2584										
HOXA4	3201	genome.wustl.edu	37	chr7	27169043	27169043	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	agatcttgacctggcgctcaGacaaacagagcgtgtgggcg	14	10	2	4			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:27169043G>A	ENST00000360046.5	-	2	829	c.764C>T	c.(763-765)tCt>tTt	p.S255F	HOXA-AS2_ENST00000521687.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.S255F|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	255					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTGGCGCTCAGACAAACAGAG	0.567																																																	0													215	179	191					7																	27169043		2203	4300	6503	SO:0001583	missense	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.764C>T	7.37:g.27169043G>A	ENSP00000353151:p.Ser255Phe		A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S255F	ENST00000360046.5	37	c.764	CCDS5405.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330381	0.81690	.	.	ENSG00000197576	ENST00000360046;ENST00000428284	D;D	0.96365	-3.99;-3.99	5.29	5.29	0.74685	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.091143	0.44285	D	0.000469	D	0.98874	0.9619	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99564	1.0969	10	0.87932	D	0	.	18.9816	0.92757	0.0:0.0:1.0:0.0	.	255	Q00056	HXA4_HUMAN	F	255	ENSP00000353151:S255F;ENSP00000408845:S255F	ENSP00000353151:S255F	S	-	2	0	HOXA4	27135568	1.000000	0.71417	0.959000	0.39883	0.988000	0.76386	7.763000	0.85283	2.485000	0.83878	0.555000	0.69702	TCT	HOXA4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.567	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	G			27169043	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27169043	G	A	27169043	3	1	16	1	0	0	0	0	1	0	0	0	7314	942	33	1	202	1	HOXA4	7	27169043	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		27169043	131969620	53	2585										
HOXA4	3201	genome.wustl.edu	37	chr7	27170293	27170293	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ctgtgctgcgcgtactcctcGaagggagggaacttgggctc	15	11	0	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:27170293G>A	ENST00000360046.5	-	1	125	c.60C>T	c.(58-60)ttC>ttT	p.F20F	HOXA-AS2_ENST00000521687.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA4_ENST00000428284.2_Silent_p.F20F|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	20	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGTACTCCTCGAAGGGAGGGA	0.602																																																	0													15	15	15					7																	27170293		2202	4297	6499	SO:0001819	synonymous_variant	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.60C>T	7.37:g.27170293G>A			A4D180|O43366	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.F20	ENST00000360046.5	37	c.60	CCDS5405.1	7																																																																																			HOXA4	-	NULL		0.602	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	G			27170293	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27170293	G	A	27170293	2	1	16	1	0	0	0	0	0	0	0	1	7314	1049	37	1		1	HOXA4	7	27170293	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	1250	27170293	131968370	54	2586										
TMEM60	85025	genome.wustl.edu	37	chr7	77423294	77423294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgatgtacttagaagtcagtCtctcacaaaaaagacattat	6	7	3	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:77423294C>G	ENST00000257663.3	-	2	773	c.397G>C	c.(397-399)Gac>Cac	p.D133H		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	133						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGTCAGTCTCTCACAAAA	0.388																																																	0													53	48	50					7																	77423294		2203	4300	6503	SO:0001583	missense	85025			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 35"	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.397G>C	7.37:g.77423294C>G	ENSP00000257663:p.Asp133His		A4D1C3|Q86UM0	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.D133H	ENST00000257663.3	37	c.397	CCDS5593.1	7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290134	0.80914	.	.	ENSG00000135211	ENST00000257663	T	0.25749	1.78	6.06	6.06	0.98353	.	0.108534	0.64402	D	0.000010	T	0.23532	0.0569	N	0.22421	0.69	0.45261	D	0.998262	D	0.59767	0.986	B	0.42522	0.39	T	0.01165	-1.1431	10	0.54805	T	0.06	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	133	Q9H2L4	TMM60_HUMAN	H	133	ENSP00000257663:D133H	ENSP00000257663:D133H	D	-	1	0	TMEM60	77261230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.010000	0.76353	2.880000	0.98712	0.650000	0.86243	GAC	TMEM60	-	NULL		0.388	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM60	HGNC	protein_coding	OTTHUMT00000253185.2	C	NM_032936		77423294	-1	no_errors	ENST00000257663	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77423294	C	G	77423294	3	3	16	1	0	0	0	0	1	0	0	0	16217	913	32	1	8	1	TMEM60	7	77423294	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	50253001	77423294	81715369	55	2587										
ASB4	51666	genome.wustl.edu	37	chr7	95157138	95157138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tttataggggcgaatgtgaaCatgaagaccaacaaccaaga	10	7	0	4			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:95157138C>T	ENST00000325885.5	+	3	572	c.501C>T	c.(499-501)aaC>aaT	p.N167N	ASB4_ENST00000428113.1_Silent_p.N167N	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	167					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGAATGTGAACATGAAGACCA	0.463											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													75	67	70					7																	95157138		2203	4300	6503	SO:0001819	synonymous_variant	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.501C>T	7.37:g.95157138C>T		1310	A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.N167	ENST00000325885.5	37	c.501	CCDS5641.1	7																																																																																			ASB4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.463	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	HGNC	protein_coding	OTTHUMT00000333225.2	C	NM_016116		95157138	1	no_errors	ENST00000325885	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95157138	C	T	95157138	2	4	16	1	0	0	0	0	0	0	0	1	1026	477	17	4		4	ASB4	7	95157138	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	17733844	95157138	63981525	56	2588										
PTPRN2	5799	genome.wustl.edu	37	chr7	157985024	157985024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aagtggaagggtcacctcagCggggggtctgtcctgcgccg	17	11	3	0	rs35442624|rs372551467		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:157985024C>T	ENST00000389418.4	-	5	553	c.544G>A	c.(544-546)Gct>Act	p.A182T	PTPRN2_ENST00000409483.1_Missense_Mutation_p.A144T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A205T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A182T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A165T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	182					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCACCTCAGCGGGGGGTCTG	0.667																																																	0									THR/ALA,THR/ALA,THR/ALA	1,4401	2.1+/-5.4	0,1,2200	29	33	31		544,493,544	-8.3	0	7		31	0,8598		0,0,4299	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	58,58,58	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	182/1016,165/999,182/987	157985024	1,12999	2201	4299	6500	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.544G>A	7.37:g.157985024C>T	ENSP00000374069:p.Ala182Thr		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A205T	ENST00000389418.4	37	c.613	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806278	0.31961	2.27E-4	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03152	4.05;4.03;4.05;4.05;4.04	4.17	-8.34	0.00988	.	.	.	.	.	T	0.01800	0.0057	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.01;0.017;0.01;0.01	B;B;B;B;B	0.10450	0.005;0.002;0.005;0.002;0.002	T	0.45991	-0.9223	9	0.25751	T	0.34	.	0.8063	0.01084	0.2267:0.1259:0.2262:0.4213	.	205;144;182;165;182	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	144;182;165;182;205	ENSP00000387114:A144T;ENSP00000374064:A182T;ENSP00000374067:A165T;ENSP00000374069:A182T;ENSP00000385464:A205T	ENSP00000374064:A182T	A	-	1	0	PTPRN2	157677785	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.604000	0.05667	-1.640000	0.01525	-1.031000	0.02408	GCT	PTPRN2	-	NULL		0.667	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	C			157985024	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.000	T	T	157985024	C	T	157985024	3	4	16	1	0	0	0	0	1	0	0	0	12838	768	27	2	2579	2	PTPRN2	7	157985024	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	62827886	157985024	1153639	57	2589										
BAI1	575	genome.wustl.edu	37	chr8	143623644	143623644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gagctacgtgatcctgcccaCggccacggccacgctgcggc	13	17	0	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr8:143623644C>T	ENST00000517894.1	+	28	4943	c.4049C>T	c.(4048-4050)aCg>aTg	p.T1350M	BAI1_ENST00000323289.5_Missense_Mutation_p.T1350M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1350					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCCTGCCCACGGCCACGGCC	0.647																																																	0													37	47	43					8																	143623644		2096	4211	6307	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4049C>T	8.37:g.143623644C>T	ENSP00000430945:p.Thr1350Met			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.T1350M	ENST00000517894.1	37	c.4049		8	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780959	0.49891	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28255	1.62;1.62	4.37	2.47	0.30058	.	0.214782	0.37393	U	0.002107	T	0.32971	0.0847	L	0.36672	1.1	0.22552	N	0.999	D	0.71674	0.998	P	0.54706	0.759	T	0.10753	-1.0616	10	0.72032	D	0.01	.	7.9907	0.30239	0.3245:0.5181:0.1573:0.0	.	1350	E9PBK0	.	M	1350	ENSP00000430945:T1350M;ENSP00000313046:T1350M	ENSP00000313046:T1350M	T	+	2	0	BAI1	143620646	0.933000	0.31639	0.019000	0.16419	0.750000	0.42670	1.023000	0.30065	0.251000	0.21505	0.655000	0.94253	ACG	BAI1	-	NULL		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	C	NM_001702		143623644	1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	0.502	T	T	143623644	C	T	143623644	3	4	16	1	0	0	0	0	1	0	0	0	1299	536	19	2	4155	2	BAI1	8	143623644	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		143623644	2740378	58	2590										
CPSF1	29894	genome.wustl.edu	37	chr8	145624185	145624185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ctacctcctccttacgcaccGgggcgatgactgtccacatg	9	16	0	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr8:145624185G>A	ENST00000349769.3	-	17	1716	c.1622C>T	c.(1621-1623)cCg>cTg	p.P541L	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	541					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTTACGCACCGGGGCGATGAC	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													80	87	85					8																	145624185		2203	4300	6503	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1622C>T	8.37:g.145624185G>A	ENSP00000339353:p.Pro541Leu		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.P541L	ENST00000349769.3	37	c.1622	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	4.864	0.160555	0.09287	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	5.94	5.94	0.96194	.	0.571110	0.20237	N	0.096372	T	0.38321	0.1036	L	0.50333	1.59	0.09310	N	0.999999	B	0.19331	0.035	B	0.16289	0.015	T	0.18461	-1.0336	10	0.38643	T	0.18	-16.7	12.7534	0.57320	0.0:0.0:0.836:0.164	.	541	Q10570	CPSF1_HUMAN	L	541	ENSP00000339353:P541L	ENSP00000339353:P541L	P	-	2	0	CPSF1	145594993	0.841000	0.29509	0.165000	0.22776	0.009000	0.06853	3.380000	0.52448	2.817000	0.96982	0.655000	0.94253	CCG	CPSF1	-	NULL		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145624185	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	0.003	A	A	145624185	G	A	145624185	3	1	16	1	0	0	0	0	1	0	0	0	3829	1116	39	2	2797	2	CPSF1	8	145624185	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	2000541	145624185	739837	59	2591										
ZNF34	80778	genome.wustl.edu	37	chr8	145999029	145999029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gtgtggcttctctgatgttcCacgagtttggttttttgaat	11	6	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr8:145999029C>T	ENST00000343459.4	-	6	1370	c.1305G>A	c.(1303-1305)gtG>gtA	p.V435V	ZNF34_ENST00000429371.2_Silent_p.V414V			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TCTGATGTTCCACGAGTTTGG	0.418																																																	0													69	71	71					8																	145999029		2202	4300	6502	SO:0001819	synonymous_variant	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1305G>A	8.37:g.145999029C>T			D3DWN1|Q9BSZ0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V435	ENST00000343459.4	37	c.1305	CCDS47945.1	8																																																																																			ZNF34	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	C	NM_030580		145999029	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	silent	SNP	0.000	T	T	145999029	C	T	145999029	2	4	16	1	0	0	0	0	0	0	0	1	17886	581	21	4		4	ZNF34	8	145999029	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	374844	145999029	364993	60	2592										
COL15A1	1306	genome.wustl.edu	37	chr9	101748328	101748328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cagcggtcctcccaggctttGgcttttgagtccagcgctgg	13	13	0	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:101748328G>T	ENST00000375001.3	+	3	1005	c.582G>T	c.(580-582)ttG>ttT	p.L194F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	194	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCAGGCTTTGGCTTTTGAGT	0.567																																																	0													39	42	41					9																	101748328		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.582G>T	9.37:g.101748328G>T	ENSP00000364140:p.Leu194Phe		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L194F	ENST00000375001.3	37	c.582	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198278	0.22037	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.07908	3.15	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32010	0.0815	M	0.79805	2.47	0.42695	D	0.993596	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03077	-1.1075	10	0.56958	D	0.05	-9.1119	16.6967	0.85337	0.0:0.0:1.0:0.0	.	194;164	P39059;B3KTP7	COFA1_HUMAN;.	F	194;164	ENSP00000364140:L194F	ENSP00000364140:L194F	L	+	3	2	COL15A1	100788149	1.000000	0.71417	0.065000	0.19835	0.015000	0.08874	3.894000	0.56250	2.608000	0.88229	0.650000	0.86243	TTG	COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855		101748328	1	no_errors	ENST00000375001	ensembl	human	known	70_37	missense	SNP	0.834	T	T	101748328	G	T	101748328	3	4	16	1	0	0	0	0	1	0	0	0	3677	1339	47	4	592	4	COL15A1	9	101748328	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		101748328	39465103	61	2593										
CCBL1	883	genome.wustl.edu	37	chr9	131607662	131607662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	agtcgatcccgtctagccttCgggcctgcagctgtttggcc	12	14	1	0	rs560525574	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:131607662C>T	ENST00000302586.3	-	2	185	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CCBL1_ENST00000436267.2_Missense_Mutation_p.R102Q|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R8Q	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	8					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GTCTAGCCTTCGGGCCTGCAG	0.612													C|||	4	0.000798722	0	0	5008	,	,		21169	0		0	False		,,,				2504	0.0041																0													60	69	66					9																	131607662		2091	4205	6296	SO:0001583	missense	883			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.23G>A	9.37:g.131607662C>T	ENSP00000302227:p.Arg8Gln		Q5T275|Q8N191	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R102Q	ENST00000302586.3	37	c.305	CCDS43884.1	9	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144451	0.57044	.	.	ENSG00000171097	ENST00000302586;ENST00000372610;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084;ENST00000427720	T;T;T;T;T	0.80214	-0.87;-1.35;-0.9;-0.81;0.92	4.88	3.04	0.35103	Pyridoxal phosphate-dependent transferase, major domain (1);	0.260051	0.37809	N	0.001927	T	0.64371	0.2592	L	0.28014	0.82	0.48901	D	0.999724	P;B;P;B;B	0.38677	0.56;0.278;0.642;0.278;0.131	B;B;B;B;B	0.32211	0.028;0.012;0.142;0.012;0.012	T	0.59590	-0.7426	10	0.29301	T	0.29	-3.3328	10.3168	0.43743	0.0:0.8375:0.0:0.1625	.	102;8;8;8;8	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	Q	8;9;8;102;8;8;9	ENSP00000302227:R8Q;ENSP00000317342:R8Q;ENSP00000399415:R102Q;ENSP00000390377:R8Q;ENSP00000412402:R8Q	ENSP00000302227:R8Q	R	-	2	0	CCBL1	130647483	1.000000	0.71417	0.992000	0.48379	0.856000	0.48823	5.116000	0.64661	0.769000	0.33313	-0.150000	0.13652	CGA	CCBL1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.612	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBL1	HGNC	protein_coding	OTTHUMT00000054521.2	C			131607662	-1	no_errors	ENST00000436267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131607662	C	T	131607662	3	4	16	1	0	0	0	0	1	0	0	0	2737	884	31	1	1293	1	CCBL1	9	131607662	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	29859334	131607662	9605769	62	2594										
METTL11A	28989	genome.wustl.edu	37	chr9	132397623	132397623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gacgtggacagcagcgtgtgCcgggaccttgacgtggtccg	17	11	0	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:132397623C>T	ENST00000372486.1	+	4	901	c.552C>T	c.(550-552)tgC>tgT	p.C184C	NTMT1_ENST00000372480.1_Silent_p.C184C|NTMT1_ENST00000372483.4_Silent_p.C184C|NTMT1_ENST00000482347.1_Silent_p.C96C|NTMT1_ENST00000372481.3_3'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	184					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GCAGCGTGTGCCGGGACCTTG	0.627																																																	0													126	104	111					9																	132397623		2203	4300	6503	SO:0001819	synonymous_variant	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.552C>T	9.37:g.132397623C>T			A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik	p.C184	ENST00000372486.1	37	c.552	CCDS35160.1	9																																																																																			NTMT1	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik		0.627	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	C	NM_014064		132397623	1	no_errors	ENST00000372480	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132397623	C	T	132397623	2	4	16	1	0	0	0	0	0	0	0	1	9518	747	26	4		4	METTL11A	9	132397623	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	789961	132397623	8815808	63	2595										
TPRN	286262	genome.wustl.edu	37	chr9	140093513	140093513	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gccgccaatcacctcgatctCatgcacggtggggtagcgct	12	14	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:140093513C>G	ENST00000409012.4	-	1	1737	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.E490Q	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	551					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ACCTCGATCTCATGCACGGTG	0.647																																																	0													84	76	79					9																	140093513		2203	4300	6503	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1651G>C	9.37:g.140093513C>G	ENSP00000387100:p.Glu551Gln		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.E551Q	ENST00000409012.4	37	c.1651	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091679	0.55968	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.93	3.93	0.45458	.	0.069959	0.56097	D	0.000033	T	0.75708	0.3886	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78969	-0.1994	9	0.72032	D	0.01	-21.1453	13.4734	0.61295	0.0:1.0:0.0:0.0	.	551	Q4KMQ1	TPRN_HUMAN	Q	349;551;490	.	ENSP00000313704:E490Q	E	-	1	0	TPRN	139213334	1.000000	0.71417	0.987000	0.45799	0.109000	0.19521	7.244000	0.78228	2.013000	0.59113	0.561000	0.74099	GAG	TPRN	-	NULL		0.647	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	C	NM_173691		140093513	-1	no_errors	ENST00000409012	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140093513	C	G	140093513	3	3	16	1	0	0	0	0	1	0	0	0	16452	835	29	1	580	1	TPRN	9	140093513	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	7695890	140093513	1119918	64	2596										
ITIH5	80760	genome.wustl.edu	37	chr10	7621922	7621922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cgaccgtgggcttcccatccGtcaggaagacgatgagggac	14	12	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:7621922G>A	ENST00000256861.6	-	9	1292	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	ITIH5_ENST00000397145.2_Missense_Mutation_p.T405M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.T405M|ITIH5_ENST00000446830.2_Missense_Mutation_p.T187M|ITIH5_ENST00000298441.6_Missense_Mutation_p.T191M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	405	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T405M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCCCATCCGTCAGGAAGAC	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											98	87	91					10																	7621922		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1214C>T	10.37:g.7621922G>A	ENSP00000256861:p.Thr405Met		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T405M	ENST00000256861.6	37	c.1214		10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484034	0.84854	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.982;0.97	D	0.95223	0.8335	9	0.87932	D	0	-21.7939	18.9935	0.92803	0.0:0.0:1.0:0.0	.	405;405;191	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	405;405;191;187;405	ENSP00000256861:T405M;ENSP00000380333:T405M;ENSP00000298441:T191M;ENSP00000387969:T187M;ENSP00000380332:T405M	ENSP00000256861:T405M	T	-	2	0	ITIH5	7661928	1.000000	0.71417	0.947000	0.38551	0.676000	0.39594	9.145000	0.94634	2.491000	0.84063	0.561000	0.74099	ACG	ITIH5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7621922	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7621922	G	A	7621922	3	1	16	1	0	0	0	0	1	0	0	0	7927	1145	40	2	1761	2	ITIH5	10	7621922	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		7621922	127912825	65	2597										
SVIL	6840	genome.wustl.edu	37	chr10	29762860	29762860	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cggccttgccagaagaagtaGacgcacttctctttgccggc	11	13	1	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:29762860G>C	ENST00000355867.4	-	30	6188	c.5436C>G	c.(5434-5436)gtC>gtG	p.V1812V	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.V1812V|SVIL_ENST00000535393.1_Silent_p.V726V|SVIL_ENST00000375400.3_Silent_p.V1386V|SVIL_ENST00000460007.1_5'UTR	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1812					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGAAGAAGTAGACGCACTTCT	0.617																																																	0													69	52	58					10																	29762860		2203	4300	6503	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5436C>G	10.37:g.29762860G>C			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.V1812	ENST00000355867.4	37	c.5436	CCDS7164.1	10																																																																																			SVIL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.617	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	G			29762860	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	1.000	C	C	29762860	G	C	29762860	2	2	16	1	0	0	0	0	0	0	0	1	15451	929	33	1		1	SVIL	10	29762860	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	22140938	29762860	105771887	66	2598										
ANKRD30A	91074	genome.wustl.edu	37	chr10	37431083	37431083	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gacctaggaagatcgcatggGagaaaaaagaaacacctgta	11	7	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:37431083G>C	ENST00000602533.1	+	7	1189	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E364Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E364Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	420					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATCGCATGGGAGAAAAAAGA	0.393																																																	0													95	94	94					10																	37431083		1844	4100	5944	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1090G>C	10.37:g.37431083G>C	ENSP00000473551:p.Glu364Gln		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E364Q	ENST00000602533.1	37	c.1090		10	.	.	.	.	.	.	.	.	.	.	.	4.745	0.138459	0.09083	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.51325	0.79;0.71	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.50069	0.1594	L	0.40543	1.245	0.09310	N	1	D	0.57899	0.981	D	0.65140	0.932	T	0.41680	-0.9495	8	0.22706	T	0.39	.	.	.	.	.	420	Q9BXX3	AN30A_HUMAN	Q	364	ENSP00000354432:E364Q;ENSP00000363792:E364Q	ENSP00000354432:E364Q	E	+	1	0	ANKRD30A	37471089	0.168000	0.22989	0.010000	0.14722	0.010000	0.07245	1.450000	0.35134	0.132000	0.18615	0.134000	0.15878	GAG	ANKRD30A	-	NULL		0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	G	NM_052997		37431083	1	no_errors	ENST00000361713	ensembl	human	known	70_37	missense	SNP	0.011	C	C	37431083	G	C	37431083	3	2	16	1	0	0	0	0	1	0	0	0	658	1175	41	1	1116	1	ANKRD30A	10	37431083	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	7668223	37431083	98103664	67	2599										
ANK3	288	genome.wustl.edu	37	chr10	61835654	61835654	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gtgctgctgatgtaataattGacttaaatggcaaacttgag	10	5	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:61835654G>C	ENST00000280772.2	-	37	5176	c.4985C>G	c.(4984-4986)tCa>tGa	p.S1662*	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1662	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAATAATTGACTTAAATGG	0.398																																																	0													102	98	100					10																	61835654		2203	4300	6503	SO:0001587	stop_gained	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4985C>G	10.37:g.61835654G>C	ENSP00000280772:p.Ser1662*		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S1662*	ENST00000280772.2	37	c.4985	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.381395	0.99662	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.82	5.82	0.92795	.	0.000000	0.37483	N	0.002072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0992	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	1662	.	ENSP00000280772:S1662X	S	-	2	0	ANK3	61505660	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.476000	0.97823	2.762000	0.94881	0.467000	0.42956	TCA	ANK3	-	NULL		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61835654	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	61835654	G	C	61835654	4	2	16	1	0	0	0	0	0	1	0	0	622	1294	45	1	8489	1	ANK3	10	61835654	Nonsense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	24404571	61835654	73699093	68	2600										
CAMK2G	818	genome.wustl.edu	37	chr10	75608805	75608805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgctctccctgtacttcgatGgctaggccaaaatcagccag	9	13	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:75608805G>A	ENST00000351293.3	-	7	540	c.483C>T	c.(481-483)gcC>gcT	p.A161A	CAMK2G_ENST00000423381.1_Silent_p.A161A|CAMK2G_ENST00000372765.1_Silent_p.A161A|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.A161A|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000322635.3_Silent_p.A161A|CAMK2G_ENST00000322680.3_Silent_p.A161A|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.A161A	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GTACTTCGATGGCTAGGCCAA	0.567											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118	102	107					10																	75608805		2203	4300	6503	SO:0001819	synonymous_variant	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.483C>T	10.37:g.75608805G>A		1161	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.A161	ENST00000351293.3	37	c.483	CCDS7336.1	10																																																																																			CAMK2G	-	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		0.567	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2G	HGNC	protein_coding	OTTHUMT00000048715.1	G	NM_172169		75608805	-1	no_errors	ENST00000423381	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75608805	G	A	75608805	2	1	16	1	0	0	0	0	0	0	0	1	2607	1335	47	4		4	CAMK2G	10	75608805	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	13773151	75608805	59925942	69	2601										
ADAM8	101	genome.wustl.edu	37	chr10	135084281	135084281	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cctggtaggatgtcataggaGaagcaggactcctcggcagc	14	10	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:135084281G>A	ENST00000445355.3	-	15	1643	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	ADAM8_ENST00000485491.2_Silent_p.F492F|ADAM8_ENST00000415217.3_Silent_p.F531F|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	531					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGTCATAGGAGAAGCAGGACT	0.662																																																	0													24	23	24					10																	135084281		2190	4296	6486	SO:0001819	synonymous_variant	101			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1593C>T	10.37:g.135084281G>A			B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.F531	ENST00000445355.3	37	c.1593	CCDS31319.2	10																																																																																			ADAM8	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.662	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM8	HGNC	protein_coding	OTTHUMT00000051118.4	G	NM_001109		135084281	-1	no_errors	ENST00000445355	ensembl	human	known	70_37	silent	SNP	0.110	A	A	135084281	G	A	135084281	2	1	16	1	0	0	0	0	0	0	0	1	252	933	33	1		1	ADAM8	10	135084281	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	59475476	135084281	450466	70	2602										
CEND1	51286	genome.wustl.edu	37	chr11	788486	788486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ggtcaagggggctttcccatCggctgccgggggtaccttgg	17	11	1	0	rs149620345		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:788486C>T	ENST00000330106.4	-	2	266	c.91G>A	c.(91-93)Gat>Aat	p.D31N	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	31					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTTTCCCATCGGCTGCCGGG	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		13509	0		0	False		,,,				2504	0																0								C	ASN/ASP	1,4389		0,1,2194	62	80	74		91	3.6	0.2	11	dbSNP_134	74	0,8590		0,0,4295	no	missense	CEND1	NM_016564.3	23	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	31/150	788486	1,12979	2195	4295	6490	SO:0001583	missense	51286			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.91G>A	11.37:g.788486C>T	ENSP00000328336:p.Asp31Asn		Q9NYM6	Missense_Mutation	SNP	NULL	p.D31N	ENST00000330106.4	37	c.91	CCDS7714.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738776	0.49045	2.28E-4	0.0	ENSG00000184524	ENST00000330106	.	.	.	3.58	3.58	0.41010	.	0.090204	0.42294	D	0.000730	T	0.46092	0.1375	L	0.27053	0.805	0.28078	N	0.932308	D	0.89917	1.0	D	0.85130	0.997	T	0.23048	-1.0199	9	0.23302	T	0.38	0.0408	10.9506	0.47327	0.0:1.0:0.0:0.0	.	31	Q8N111	CEND_HUMAN	N	31	.	ENSP00000328336:D31N	D	-	1	0	CEND1	778486	0.934000	0.31675	0.180000	0.23079	0.010000	0.07245	3.538000	0.53597	2.286000	0.76751	0.462000	0.41574	GAT	CEND1	-	NULL		0.687	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1	C	NM_016564		788486	-1	no_errors	ENST00000330106	ensembl	human	known	70_37	missense	SNP	0.604	T	T	788486	C	T	788486	3	4	16	1	0	0	0	0	1	0	0	0	3230	884	31	1	362	1	CEND1	11	788486	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		788486	134218030	71	2603										
MRVI1	10335	genome.wustl.edu	37	chr11	10622540	10622540	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gagctccgcatggtccttctCatacgtcctctttagattct	7	13	3	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:10622540C>G	ENST00000436272.1	-	14	1939	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	MRVI1_ENST00000527509.2_Missense_Mutation_p.E557Q|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.E442Q|MRVI1_ENST00000545852.1_Missense_Mutation_p.E333Q|MRVI1_ENST00000424001.1_Missense_Mutation_p.E333Q|MRVI1_ENST00000531107.1_Missense_Mutation_p.E640Q|MRVI1_ENST00000547195.1_Missense_Mutation_p.E557Q|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.E557Q|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.E648Q|MRVI1_ENST00000534266.2_Missense_Mutation_p.E333Q|MRVI1_ENST00000421747.1_Missense_Mutation_p.E639Q|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.E333Q			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	621					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGTCCTTCTCATACGTCCTC	0.522																																																	0													221	217	218					11																	10622540		1967	4147	6114	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1861G>C	11.37:g.10622540C>G	ENSP00000412229:p.Glu621Gln		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.E639Q	ENST00000436272.1	37	c.1915		11	.	.	.	.	.	.	.	.	.	.	C	32	5.110514	0.94292	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.26883	-1.0090	10	0.52906	T	0.07	-16.5594	19.2679	0.93997	0.0:1.0:0.0:0.0	.	442;621;640;639	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	Q	639;622;621;557;557;333;333;648;442;640;557	ENSP00000414598:E639Q;ENSP00000412229:E621Q;ENSP00000448278:E557Q;ENSP00000446764:E557Q;ENSP00000441971:E333Q;ENSP00000401205:E333Q;ENSP00000412130:E648Q;ENSP00000437784:E442Q;ENSP00000432436:E640Q;ENSP00000432067:E557Q	ENSP00000307885:E622Q	E	-	1	0	MRVI1	10579116	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.487000	0.81328	2.557000	0.86248	0.557000	0.71058	GAG	MRVI1	-	pfam_MRVI1		0.522	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		C	NM_001098579		10622540	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10622540	C	G	10622540	3	3	16	1	0	0	0	0	1	0	0	0	9876	835	29	1	824	1	MRVI1	11	10622540	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	9834054	10622540	124383976	72	2604										
ALX4	60529	genome.wustl.edu	37	chr11	44289058	44289058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	acttacctgggcgtagttctCagctcgggtgaggaggggca	16	9	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:44289058C>T	ENST00000329255.3	-	3	995	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	298					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCGTAGTTCTCAGCTCGGGTG	0.642																																																	0													139	111	120					11																	44289058		2203	4299	6502	SO:0001583	missense	60529			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.892G>A	11.37:g.44289058C>T	ENSP00000332744:p.Glu298Lys		Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.E298K	ENST00000329255.3	37	c.892	CCDS31468.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364673	0.82463	.	.	ENSG00000052850	ENST00000329255	D	0.90955	-2.76	5.01	5.01	0.66863	.	0.054270	0.64402	D	0.000001	D	0.93357	0.7882	L	0.60455	1.87	0.80722	D	1	D	0.58620	0.983	P	0.58130	0.833	D	0.93731	0.7041	10	0.72032	D	0.01	.	18.8626	0.92278	0.0:1.0:0.0:0.0	.	298	Q9H161	ALX4_HUMAN	K	298	ENSP00000332744:E298K	ENSP00000332744:E298K	E	-	1	0	ALX4	44245634	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	7.516000	0.81772	2.768000	0.95171	0.561000	0.74099	GAG	ALX4	-	NULL		0.642	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1	C			44289058	-1	no_errors	ENST00000329255	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44289058	C	T	44289058	3	4	16	1	0	0	0	0	1	0	0	0	558	835	29	1	351	1	ALX4	11	44289058	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	33666518	44289058	90717458	73	2605										
CHST1	8534	genome.wustl.edu	37	chr11	45671568	45671568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gggttccgagccaggtcctcGtagcgcaccaacatgtactt	11	13	0	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:45671568G>A	ENST00000308064.2	-	4	1576	c.906C>T	c.(904-906)taC>taT	p.Y302Y	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	302					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCAGGTCCTCGTAGCGCACCA	0.622																																																	0													79	72	75					11																	45671568		2203	4299	6502	SO:0001819	synonymous_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.906C>T	11.37:g.45671568G>A			D3DQP2	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.Y302	ENST00000308064.2	37	c.906	CCDS7913.1	11																																																																																			CHST1	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.622	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	G	NM_003654		45671568	-1	no_errors	ENST00000308064	ensembl	human	known	70_37	silent	SNP	0.998	A	A	45671568	G	A	45671568	2	1	16	1	0	0	0	0	0	0	0	1	3402	1140	40	2		2	CHST1	11	45671568	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	1382510	45671568	89334948	74	2606										
H2AFX	3014	genome.wustl.edu	37	chr11	118965703	118965703	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgggaggcctgggtggccttCttgccgcccgagggcgcctt	17	13	1	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:118965703C>G	ENST00000530167.1	-	1	474	c.402G>C	c.(400-402)aaG>aaC	p.K134N		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	134					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGGTGGCCTTCTTGCCGCCCG	0.706								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25	28	27					11																	118965703		2197	4291	6488	SO:0001583	missense	3014			X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.402G>C	11.37:g.118965703C>G	ENSP00000434024:p.Lys134Asn	1492	Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K134N	ENST00000530167.1	37	c.402	CCDS8410.1	11	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980740	0.34942	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.90844	-2.74;-2.74	5.34	4.42	0.53409	.	0.000000	0.48767	D	0.000175	D	0.87728	0.6250	M	0.61703	1.905	0.42842	D	0.994053	B	0.29253	0.239	B	0.24006	0.05	D	0.85201	0.1015	10	0.35671	T	0.21	.	12.7327	0.57206	0.165:0.835:0.0:0.0	.	134	P16104	H2AX_HUMAN	N	134	ENSP00000434024:K134N;ENSP00000364310:K134N	ENSP00000364310:K134N	K	-	3	2	H2AFX	118470913	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.254000	0.65457	1.357000	0.45904	-0.319000	0.08680	AAG	H2AFX	-	NULL		0.706	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFX	HGNC	protein_coding	OTTHUMT00000388330.2	C	NM_002105		118965703	-1	no_errors	ENST00000375167	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118965703	C	G	118965703	3	3	16	1	0	0	0	0	1	0	0	0	6948	912	32	1	33	1	H2AFX	11	118965703	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	73294135	118965703	16040813	75	2607										
WNK1	65125	genome.wustl.edu	37	chr12	977921	977921	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	actgcctcctcaatcagttgGattacatggctacttgcagc	8	12	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:977921G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000574564.1_Missense_Mutation_p.G309E|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.G1010E|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1095E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAATCAGTTGGATTACATGGC	0.473																																					Colon(19;451 567 6672 12618 28860)												0													71	71	71					12																	977921		1950	4138	6088	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2510G>A	12.37:g.977921G>A			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G1095E	ENST00000315939.6	37	c.3284	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225073	0.58668	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.17528	2.27;2.27	5.97	5.06	0.68205	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	T	0.03684	-1.1013	8	0.46703	T	0.11	.	11.2141	0.48817	0.0:0.2584:0.6079:0.1337	.	1095	F5H2M7	.	E	1010;1095	ENSP00000444465:G1010E;ENSP00000433548:G1095E	ENSP00000433548:G1095E	G	+	2	0	WNK1	848182	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	4.898000	0.63238	1.485000	0.48380	0.557000	0.71058	GGA	WNK1	-	NULL		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979		977921	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	0.840	A	A	977921	G	A	977921	1	1	16	0	1	0	0	0	0	0	0	0	17408	1174	41	1		1	WNK1	12	977921	Intron	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		977921	132873974	76	2608										
KRT2	3849	genome.wustl.edu	37	chr12	53038879	53038879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cagagctagaacccccacctCcagagccatatcctcctcca	5	19	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:53038879C>T	ENST00000309680.3	-	9	1865	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	615	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G615V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCCCCACCTCCAGAGCCATA	0.552																																																	1	Substitution - Missense(1)	lung(1)											83	87	86					12																	53038879		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1844G>A	12.37:g.53038879C>T	ENSP00000310861:p.Gly615Glu		Q4VAQ2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G615E	ENST00000309680.3	37	c.1844	CCDS8835.1	12	.	.	.	.	.	.	.	.	.	.	C	9.622	1.133992	0.21123	.	.	ENSG00000172867	ENST00000309680	D	0.89270	-2.49	4.08	4.08	0.47627	.	.	.	.	.	D	0.86883	0.6040	N	0.08118	0	0.45791	D	0.998675	D	0.89917	1.0	D	0.87578	0.998	D	0.85504	0.1193	9	0.26408	T	0.33	.	13.3738	0.60726	0.0:1.0:0.0:0.0	.	615	P35908	K22E_HUMAN	E	615	ENSP00000310861:G615E	ENSP00000310861:G615E	G	-	2	0	KRT2	51325146	1.000000	0.71417	0.994000	0.49952	0.323000	0.28346	3.582000	0.53921	2.010000	0.58986	0.561000	0.74099	GGA	KRT2	-	NULL		0.552	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	C	NM_000423		53038879	-1	no_errors	ENST00000309680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53038879	C	T	53038879	3	4	16	1	0	0	0	0	1	0	0	0	8477	855	30	1	79	1	KRT2	12	53038879	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	52060958	53038879	80813016	77	2609										
OBFC2B	79035	genome.wustl.edu	37	chr12	56618691	56618691	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aagcctgggctcaagaatctGaaccttatcttcattgtgct	8	10	4	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:56618691G>A	ENST00000380198.2	+	1	549	c.51G>A	c.(49-51)ctG>ctA	p.L17L	NABP2_ENST00000267023.4_Silent_p.L17L|NABP2_ENST00000341463.5_Silent_p.L17L|RNF41_ENST00000394013.2_5'Flank|RNF41_ENST00000345093.4_5'Flank|RNF41_ENST00000552656.1_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	17					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCAAGAATCTGAACCTTATCT	0.577											OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134	120	125					12																	56618691		2203	4300	6503	SO:0001819	synonymous_variant	79035			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.51G>A	12.37:g.56618691G>A		1016	A6NDF8|Q6XYC8	Silent	SNP	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like	p.L17	ENST00000380198.2	37	c.51	CCDS8911.1	12																																																																																			NABP2	-	superfamily_NA-bd_OB-fold-like		0.577	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	HGNC	protein_coding	OTTHUMT00000326610.1	G	NM_024068		56618691	1	no_errors	ENST00000267023	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56618691	G	A	56618691	2	1	16	1	0	0	0	0	0	0	0	1	10833	1277	45	1		1	OBFC2B	12	56618691	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	3579812	56618691	77233204	78	2610										
R3HDM2	22864	genome.wustl.edu	37	chr12	57677635	57677635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gagatccttcccgcactgccGcctttactgctgccgatgct	9	16	0	1	rs139077619		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:57677635G>A	ENST00000347140.3	-	13	1491	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	R3HDM2_ENST00000413953.2_Silent_p.G94G|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Silent_p.G367G|R3HDM2_ENST00000402412.1_Silent_p.G381G|R3HDM2_ENST00000441731.2_Silent_p.G28G|R3HDM2_ENST00000403821.2_Silent_p.G367G			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	367	Ser-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGCACTGCCGCCTTTACTGC	0.522																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	206	187	194		1101	-4.9	1	12	dbSNP_134	194	0,8600		0,0,4300	no	coding-synonymous	R3HDM2	NM_014925.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		367/977	57677635	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1101C>T	12.37:g.57677635G>A			Q2M1T9|Q3ZCT5	Silent	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G367	ENST00000347140.3	37	c.1101	CCDS8937.2	12																																																																																			R3HDM2	-	NULL		0.522	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	G	NM_014925		57677635	-1	no_errors	ENST00000347140	ensembl	human	known	70_37	silent	SNP	0.772	A	A	57677635	G	A	57677635	2	1	16	1	0	0	0	0	0	0	0	1	12918	1074	38	2		2	R3HDM2	12	57677635	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	1058944	57677635	76174260	79	2611										
MDM1	56890	genome.wustl.edu	37	chr12	68709007	68709007	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ctttttcttctggttctgtaGaaggacatttctgcaaagtc	8	8	4	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:68709007G>A	ENST00000303145.7	-	9	1306	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	MDM1_ENST00000540418.1_Missense_Mutation_p.S127F|MDM1_ENST00000411698.2_Missense_Mutation_p.S372F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	407					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGGTTCTGTAGAAGGACATTT	0.393																																																	0													75	80	78					12																	68709007		2203	4300	6503	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1220C>T	12.37:g.68709007G>A	ENSP00000302537:p.Ser407Phe		B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.S407F	ENST00000303145.7	37	c.1220	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	12.45	1.943127	0.34283	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.26810	1.71;1.71;1.71	4.45	3.54	0.40534	.	0.991180	0.08205	N	0.981626	T	0.34483	0.0899	L	0.34521	1.04	0.22719	N	0.998816	D;B	0.56968	0.978;0.003	P;B	0.56700	0.804;0.007	T	0.25502	-1.0130	9	.	.	.	-0.7536	11.7823	0.52021	0.0:0.1781:0.8219:0.0	.	372;407	E7EPQ3;Q8TC05	.;MDM1_HUMAN	F	127;407;372	ENSP00000443815:S127F;ENSP00000302537:S407F;ENSP00000391006:S372F	.	S	-	2	0	MDM1	66995274	0.836000	0.29430	0.012000	0.15200	0.704000	0.40688	2.321000	0.43805	1.197000	0.43143	0.561000	0.74099	TCT	MDM1	-	NULL		0.393	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	G	NM_020128		68709007	-1	no_errors	ENST00000303145	ensembl	human	known	70_37	missense	SNP	0.010	A	A	68709007	G	A	68709007	3	1	16	1	0	0	0	0	1	0	0	0	9435	942	33	1	948	1	MDM1	12	68709007	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	11031372	68709007	65142888	80	2612										
BEST3	144453	genome.wustl.edu	37	chr12	70048731	70048731	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cttgttcagctctatgatatCtgtttccttggtgtccaggt	9	9	3	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:70048731C>G	ENST00000330891.5	-	10	2189	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	BEST3_ENST00000553096.1_Missense_Mutation_p.D549H|BEST3_ENST00000488961.1_Missense_Mutation_p.D442H|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	655					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTATGATATCTGTTTCCTTG	0.448																																																	0													142	133	136					12																	70048731		1917	4137	6054	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1963G>C	12.37:g.70048731C>G	ENSP00000332413:p.Asp655His		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D655H	ENST00000330891.5	37	c.1963	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485243	0.63962	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98313	-4.59;-4.86;-4.85	5.67	5.67	0.87782	.	0.161882	0.43110	D	0.000612	D	0.98131	0.9383	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.71184	0.862;0.972	D	0.99517	1.0957	10	0.66056	D	0.02	-19.6429	17.5352	0.87829	0.0:1.0:0.0:0.0	.	655;442	Q8N1M1;B5MDI8	BEST3_HUMAN;.	H	442;655;549	ENSP00000433213:D442H;ENSP00000332413:D655H;ENSP00000449548:D549H	ENSP00000332413:D655H	D	-	1	0	BEST3	68334998	0.977000	0.34250	0.624000	0.29186	0.545000	0.35147	4.748000	0.62148	2.680000	0.91292	0.563000	0.77884	GAT	BEST3	-	NULL		0.448	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70048731	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	0.968	G	G	70048731	C	G	70048731	3	3	16	1	0	0	0	0	1	0	0	0	1407	913	32	1	47	1	BEST3	12	70048731	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	1339724	70048731	63803164	81	2613										
PHF11	51131	genome.wustl.edu	37	chr13	50097352	50097352	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aatacattcataagacaagtGaaagaagagcatggcagaca	9	6	1	5			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr13:50097352G>A	ENST00000378319.3	+	7	653	c.612G>A	c.(610-612)gtG>gtA	p.V204V	PHF11_ENST00000488958.1_Silent_p.V165V|PHF11_ENST00000460489.1_3'UTR|PHF11_ENST00000357596.3_Silent_p.V165V	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		TAAGACAAGTGAAAGAAGAGC	0.348																																																	0													79	73	75					13																	50097352		2203	4300	6503	SO:0001819	synonymous_variant	51131			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"Zinc fingers, PHD-type"	17024	protein-coding gene	gene with protein product	"IgE responsiveness (atopic)"	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.612G>A	13.37:g.50097352G>A			Q5W0A4|Q5W0A6|Q9Y5A2	Silent	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.V204	ENST00000378319.3	37	c.612	CCDS31975.1	13																																																																																			PHF11	-	NULL		0.348	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF11	HGNC	protein_coding	OTTHUMT00000044915.1	G	NM_016119		50097352	1	no_errors	ENST00000378319	ensembl	human	known	70_37	silent	SNP	0.000	A	A	50097352	G	A	50097352	2	1	16	1	0	0	0	0	0	0	0	1	11846	1277	45	1		1	PHF11	13	50097352	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		50097352	65072526	82	2614										
DHRS12	79758	genome.wustl.edu	37	chr13	52346018	52346018	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	atggccgggtgcccttgggcCcaccgctccgtcagaaccac	12	17	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr13:52346018C>T	ENST00000444610.2	-	8	658	c.645G>A	c.(643-645)tgG>tgA	p.W215*	DHRS12_ENST00000218981.1_Nonsense_Mutation_p.W166*|DHRS12_ENST00000280056.2_Nonsense_Mutation_p.W166*|DHRS12_ENST00000490949.1_5'UTR	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	215							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCCTTGGGCCCACCGCTCCG	0.587																																																	0													76	81	79					13																	52346018		2203	4300	6503	SO:0001587	stop_gained	79758			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.645G>A	13.37:g.52346018C>T	ENSP00000411565:p.Trp215*		Q96GB2|Q9H8H1	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.W215*	ENST00000444610.2	37	c.645	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121982	0.56613	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	.	.	.	4.87	3.11	0.35812	.	0.338457	0.28730	U	0.014330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.3004	0.37842	0.163:0.6798:0.1572:0.0	.	.	.	.	X	215;166;166	.	ENSP00000218981:W166X	W	-	3	0	DHRS12	51244019	1.000000	0.71417	0.001000	0.08648	0.079000	0.17450	3.057000	0.49931	0.636000	0.30508	0.557000	0.71058	TGG	DHRS12	-	pfam_Epimerase_deHydtase		0.587	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	C	NM_024705		52346018	-1	no_errors	ENST00000444610	ensembl	human	known	70_37	nonsense	SNP	0.673	T	T	52346018	C	T	52346018	4	4	16	1	0	0	0	0	0	1	0	0	4498	624	22	4	499	4	DHRS12	13	52346018	Nonsense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	2248666	52346018	62823860	83	2615										
THSD1	55901	genome.wustl.edu	37	chr13	52952233	52952233	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cttgcctgtgacttgcggatCagagtctggctggggcttat	14	9	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr13:52952233C>T	ENST00000258613.4	-	5	2050	c.1872G>A	c.(1870-1872)ctG>ctA	p.L624L	THSD1_ENST00000349258.4_Silent_p.L571L|THSD1_ENST00000544466.1_Silent_p.L245L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	624					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTTGCGGATCAGAGTCTGGC	0.622																																																	0													49	48	48					13																	52952233		2203	4300	6503	SO:0001819	synonymous_variant	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1872G>A	13.37:g.52952233C>T			A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L624	ENST00000258613.4	37	c.1872	CCDS9432.1	13																																																																																			THSD1	-	NULL		0.622	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	C			52952233	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	silent	SNP	0.000	T	T	52952233	C	T	52952233	2	4	16	1	0	0	0	0	0	0	0	1	15907	813	29	1		1	THSD1	13	52952233	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	606215	52952233	62217645	84	2616										
KCNH5	27133	genome.wustl.edu	37	chr14	63473102	63473102	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	actgtttttcttgtacagaaGaacttcaaagcagtttgatt	7	6	2	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr14:63473102G>A	ENST00000322893.7	-	3	554	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	KCNH5_ENST00000420622.2_Missense_Mutation_p.L96F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L38F|KCNH5_ENST00000394964.2_Missense_Mutation_p.L38F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	96	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGTACAGAAGAACTTCAAAG	0.353																																																	0													94	92	92					14																	63473102		2202	4299	6501	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.286C>T	14.37:g.63473102G>A	ENSP00000321427:p.Leu96Phe		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L96F	ENST00000322893.7	37	c.286	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654220	0.88056	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.35	5.35	0.76521	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	0.998;0.996;0.996;1.0	D;D;D;D	0.79108	0.985;0.953;0.953;0.992	D	0.92141	0.5720	10	0.62326	D	0.03	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	38;38;96;96	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	F	96;96;38;38	ENSP00000321427:L96F;ENSP00000395439:L96F;ENSP00000378419:L38F;ENSP00000378415:L38F	ENSP00000321427:L96F	L	-	1	0	KCNH5	62542855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.655000	0.90218	0.655000	0.94253	CTT	KCNH5	-	pfam_PAS_fold,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS		0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	G	NM_139318		63473102	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63473102	G	A	63473102	3	1	16	1	0	0	0	0	1	0	0	0	8055	942	33	1	2750	1	KCNH5	14	63473102	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		63473102	43876438	85	2617										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102516087	102516087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tgggtggcctgttcgtgcctGaggcgtacatcactgccacc	13	13	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr14:102516087G>A	ENST00000360184.4	+	76	13716	c.13552G>A	c.(13552-13554)Gag>Aag	p.E4518K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4518					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTCGTGCCTGAGGCGTACAT	0.627																																																	0													49	45	46					14																	102516087		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13552G>A	14.37:g.102516087G>A	ENSP00000348965:p.Glu4518Lys		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E4518K	ENST00000360184.4	37	c.13552	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.560108	0.96514	.	.	ENSG00000197102	ENST00000360184	T	0.10382	2.88	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52895	-0.8514	10	0.72032	D	0.01	.	19.2687	0.94000	0.0:0.0:1.0:0.0	.	4518	Q14204	DYHC1_HUMAN	K	4518	ENSP00000348965:E4518K	ENSP00000348965:E4518K	E	+	1	0	DYNC1H1	101585840	1.000000	0.71417	0.965000	0.40720	0.806000	0.45545	9.824000	0.99380	2.533000	0.85409	0.655000	0.94253	GAG	DYNC1H1	-	pfam_Dynein_heavy_dom		0.627	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102516087	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102516087	G	A	102516087	3	1	16	1	0	0	0	0	1	0	0	0	4851	1291	45	1	13854	1	DYNC1H1	14	102516087	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	39042985	102516087	4833453	86	2618										
HERC2	8924	genome.wustl.edu	37	chr15	28515957	28515957	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aatggcaagctcgttgtcttGtggaagggtgaggtacctca	14	7	2	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:28515957G>C	ENST00000261609.7	-	10	1249	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCGTTGTCTTGTGGAAGGGTG	0.498																																																	0													70	53	59					15																	28515957		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1141C>G	15.37:g.28515957G>C	ENSP00000261609:p.Gln381Glu			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q381E	ENST00000261609.7	37	c.1141	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236968	0.22711	.	.	ENSG00000128731	ENST00000261609	T	0.33438	1.41	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	N	0.02802	-0.49	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.17107	-1.0380	10	0.02654	T	1	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	381	O95714	HERC2_HUMAN	E	381	ENSP00000261609:Q381E	ENSP00000261609:Q381E	Q	-	1	0	HERC2	26189552	1.000000	0.71417	0.983000	0.44433	0.931000	0.56810	9.852000	0.99516	2.706000	0.92434	0.650000	0.86243	CAA	HERC2	-	NULL		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28515957	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28515957	G	C	28515957	3	2	16	1	0	0	0	0	1	0	0	0	7078	1386	48	4	13699	4	HERC2	15	28515957	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		28515957	74015435	87	2619										
LTK	4058	genome.wustl.edu	37	chr15	41797683	41797683	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	atgaggcgaggggtggccctGaggctgagccccacacaccg	16	13	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:41797683G>A	ENST00000263800.6	-	14	1839	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	LTK_ENST00000453182.2_Silent_p.L451L|LTK_ENST00000355166.5_Silent_p.L520L|LTK_ENST00000561619.1_Silent_p.L279L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGGTGGCCCTGAGGCTGAGCC	0.572										TSP Lung(18;0.14)																																							0													43	43	43					15																	41797683		2203	4300	6503	SO:0001819	synonymous_variant	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1743C>T	15.37:g.41797683G>A			A6NNJ8|B4DL89|E9PFX4	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L581	ENST00000263800.6	37	c.1743	CCDS10077.1	15																																																																																			LTK	-	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,pfscan_Prot_kinase_cat_dom		0.572	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	G			41797683	-1	no_errors	ENST00000263800	ensembl	human	known	70_37	silent	SNP	0.097	A	A	41797683	G	A	41797683	2	1	16	1	0	0	0	0	0	0	0	1	9103	1277	45	1		1	LTK	15	41797683	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	13281726	41797683	60733709	88	2620										
SLC27A2	11001	genome.wustl.edu	37	chr15	50526076	50526076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tatttctagatcatgagggtCgcattggcatggcctccatc	10	10	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:50526076C>T	ENST00000267842.5	+	9	1799	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R470C|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R288C	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	523					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TCATGAGGGTCGCATTGGCAT	0.368																																																	0													71	67	68					15																	50526076		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1567C>T	15.37:g.50526076C>T	ENSP00000267842:p.Arg523Cys		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R523C	ENST00000267842.5	37	c.1567	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656894	0.47467	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50548	0.74;0.74;0.74	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80999	0.4732	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.87913	0.2698	10	0.87932	D	0	.	17.0275	0.86452	0.0:1.0:0.0:0.0	.	470;523	Q6PF09;O14975	.;S27A2_HUMAN	C	470;523;288	ENSP00000370289:R470C;ENSP00000267842:R523C;ENSP00000444549:R288C	ENSP00000267842:R523C	R	+	1	0	SLC27A2	48313368	0.954000	0.32549	0.997000	0.53966	0.022000	0.10575	1.458000	0.35223	2.631000	0.89168	0.462000	0.41574	CGC	SLC27A2	-	NULL		0.368	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	C	NM_003645		50526076	1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50526076	C	T	50526076	3	4	16	1	0	0	0	0	1	0	0	0	14556	884	31	1	1601	1	SLC27A2	15	50526076	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	8728393	50526076	52005316	89	2621										
LINGO1	84894	genome.wustl.edu	37	chr15	77906661	77906661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cggctggttggagatgaaagCgaaggtcttgttgggctgat	17	5	1	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:77906661C>T	ENST00000355300.6	-	2	1762	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A524T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	530					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGATGAAAGCGAAGGTCTTG	0.647																																																	0													84	90	88					15																	77906661		2138	4220	6358	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1588G>A	15.37:g.77906661C>T	ENSP00000347451:p.Ala530Thr		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A530T	ENST00000355300.6	37	c.1588	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003350	0.35320	.	.	ENSG00000169783	ENST00000355300	T	0.54279	0.58	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.51422	1.61	0.80722	D	1	P	0.44578	0.838	B	0.30401	0.115	T	0.43228	-0.9404	10	0.12430	T	0.62	.	18.7665	0.91874	0.0:1.0:0.0:0.0	.	530	Q96FE5	LIGO1_HUMAN	T	530	ENSP00000347451:A530T	ENSP00000347451:A530T	A	-	1	0	LINGO1	75693716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.428000	0.82296	0.561000	0.74099	GCT	LINGO1	-	NULL		0.647	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	C	NM_032808		77906661	-1	no_errors	ENST00000355300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77906661	C	T	77906661	3	4	16	1	0	0	0	0	1	0	0	0	8835	768	27	2	278	2	LINGO1	15	77906661	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	27380585	77906661	24624731	90	2622										
ZNF592	9640	genome.wustl.edu	37	chr15	85326241	85326241	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	caactgtgggaaatttgattCtacttttatgaatggagaca	9	5	1	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:85326241C>T	ENST00000560079.2	+	4	623	c.335C>T	c.(334-336)tCt>tTt	p.S112F	ZNF592_ENST00000299927.3_Missense_Mutation_p.S112F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	112					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAATTTGATTCTACTTTTATG	0.498																																																	0													57	61	59					15																	85326241		2203	4299	6502	SO:0001583	missense	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.335C>T	15.37:g.85326241C>T	ENSP00000452877:p.Ser112Phe		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S112F	ENST00000560079.2	37	c.335	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488614	0.44249	.	.	ENSG00000166716	ENST00000299927	T	0.00672	5.89	6.06	6.06	0.98353	.	0.355111	0.36134	N	0.002768	T	0.01695	0.0054	N	0.22421	0.69	0.09310	N	0.999995	D	0.53151	0.958	P	0.54312	0.748	T	0.55250	-0.8170	10	0.87932	D	0	-20.0549	18.1147	0.89549	0.0:1.0:0.0:0.0	.	112	Q92610	ZN592_HUMAN	F	112	ENSP00000299927:S112F	ENSP00000299927:S112F	S	+	2	0	ZNF592	83127245	0.355000	0.24921	0.237000	0.24090	0.923000	0.55619	3.474000	0.53129	2.882000	0.98803	0.655000	0.94253	TCT	ZNF592	-	NULL		0.498	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	C	NM_014630		85326241	1	no_errors	ENST00000299927	ensembl	human	known	70_37	missense	SNP	0.110	T	T	85326241	C	T	85326241	3	4	16	1	0	0	0	0	1	0	0	0	18052	913	32	1	337	1	ZNF592	15	85326241	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	7419580	85326241	17205151	91	2623										
WWP2	11060	genome.wustl.edu	37	chr16	69874086	69874086	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gaacaaaggcagcgttgtctCaggcggagagctgacaattt	13	8	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr16:69874086C>T	ENST00000359154.2	+	5	499	c.398C>T	c.(397-399)tCa>tTa	p.S133L	WWP2_ENST00000448661.1_Missense_Mutation_p.S133L|WWP2_ENST00000356003.2_Missense_Mutation_p.S133L|WWP2_ENST00000542271.1_Missense_Mutation_p.S17L|WWP2_ENST00000569174.1_Missense_Mutation_p.S133L|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	133					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCGTTGTCTCAGGCGGAGAG	0.547																																																	0													122	101	108					16																	69874086		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.398C>T	16.37:g.69874086C>T	ENSP00000352069:p.Ser133Leu		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.S133L	ENST00000359154.2	37	c.398	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564186	0.65651	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.47	5.2	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.143373	0.47852	D	0.000205	T	0.53481	0.1799	L	0.40543	1.245	0.49915	D	0.999837	B	0.22003	0.063	B	0.19666	0.026	T	0.48210	-0.9055	9	.	.	.	.	15.8883	0.79269	0.0:1.0:0.0:0.0	.	133	O00308	WWP2_HUMAN	L	133;133;133;20;17	ENSP00000352069:S133L;ENSP00000396871:S133L;ENSP00000348283:S133L;ENSP00000445616:S17L	.	S	+	2	0	WWP2	68431587	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	5.052000	0.64263	2.429000	0.82318	0.655000	0.94253	TCA	WWP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.547	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	C	NM_007014		69874086	1	no_errors	ENST00000356003	ensembl	human	known	70_37	missense	SNP	0.997	T	T	69874086	C	T	69874086	3	4	16	1	0	0	0	0	1	0	0	0	17447	838	29	1	412	1	WWP2	16	69874086	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		69874086	20480667	92	2624										
CDK12	51755	genome.wustl.edu	37	chr17	37627763	37627763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ctttgcctccaataccagctCttccacagcaaccacctctg	4	18	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:37627763C>T	ENST00000447079.4	+	2	1711	c.1678C>T	c.(1678-1680)Ctt>Ttt	p.L560F	CDK12_ENST00000430627.2_Missense_Mutation_p.L560F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	560					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AATACCAGCTCTTCCACAGCA	0.537			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													217	203	208					17																	37627763		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1678C>T	17.37:g.37627763C>T	ENSP00000398880:p.Leu560Phe		A7E2B2|B4DYX4|B9EIQ6|O94978	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.L560F	ENST00000447079.4	37	c.1678	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840121	0.32513	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69435	-0.4;-0.4	5.89	-8.7	0.00851	.	0.962125	0.08553	N	0.928750	T	0.45216	0.1331	N	0.14661	0.345	0.21220	N	0.999754	B;B;B	0.20459	0.026;0.026;0.045	B;B;B	0.18263	0.009;0.009;0.021	T	0.38457	-0.9660	10	0.56958	D	0.05	1.0734	13.9766	0.64277	0.1264:0.2093:0.6643:0.0	.	559;560;560	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	F	560	ENSP00000407720:L560F;ENSP00000398880:L560F	ENSP00000407720:L560F	L	+	1	0	CDK12	34881289	0.001000	0.12720	0.440000	0.26846	0.662000	0.39071	-0.966000	0.03825	-1.686000	0.01439	-0.165000	0.13383	CTT	CDK12	-	NULL		0.537	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	C	NM_016507		37627763	1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	0.456	T	T	37627763	C	T	37627763	3	4	16	1	0	0	0	0	1	0	0	0	3133	913	32	1	1684	1	CDK12	17	37627763	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		37627763	43567447	93	2625										
ACLY	47	genome.wustl.edu	37	chr17	40070105	40070105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gagttctttgcccgtctgctCtgaaattgccttggccgaca	10	12	3	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:40070105C>G	ENST00000352035.2	-	2	152	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	ACLY_ENST00000537919.1_Missense_Mutation_p.E8Q|ACLY_ENST00000393896.2_Missense_Mutation_p.E8Q|ACLY_ENST00000353196.1_Missense_Mutation_p.E8Q|ACLY_ENST00000590151.1_Missense_Mutation_p.E8Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	8	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGTCTGCTCTGAAATTGCC	0.547																																					Colon(64;807 1396 15971 30971)												0													180	159	166					17																	40070105		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.22G>C	17.37:g.40070105C>G	ENSP00000253792:p.Glu8Gln		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.E8Q	ENST00000352035.2	37	c.22	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806604	0.90623	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.89917	0.981;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.954;0.993;0.993;1.0;0.993	D	0.91640	0.5326	10	0.87932	D	0	.	19.7401	0.96223	0.0:1.0:0.0:0.0	.	8;62;62;8;8	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	Q	8;62;8;8;8	ENSP00000253792:E8Q;ENSP00000345398:E8Q;ENSP00000445349:E8Q;ENSP00000377474:E8Q	ENSP00000253792:E8Q	E	-	1	0	ACLY	37323631	1.000000	0.71417	0.971000	0.41717	0.639000	0.38242	7.568000	0.82369	2.735000	0.93741	0.563000	0.77884	GAG	ACLY	-	pirsf_ATP-citrate_synthase		0.547	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	C	NM_001096		40070105	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40070105	C	G	40070105	3	3	16	1	0	0	0	0	1	0	0	0	143	922	32	1	3395	1	ACLY	17	40070105	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	2442342	40070105	41125105	94	2626										
TMC6	11322	genome.wustl.edu	37	chr17	76120084	76120084	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cattacctgtacaccagggtGatgcaggtgataaagaagct	11	8	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:76120084G>A	ENST00000590602.1	-	9	1227	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Silent_p.I356I|TMC6_ENST00000589553.1_Silent_p.I129I|TMC6_ENST00000306591.7_Silent_p.I356I|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Silent_p.I356I			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	356					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACACCAGGGTGATGCAGGTGA	0.562																																																	0													84	75	78					17																	76120084		2203	4300	6503	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1068C>T	17.37:g.76120084G>A			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.I356	ENST00000590602.1	37	c.1068	CCDS32748.1	17																																																																																			TMC6	-	NULL		0.562	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76120084	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76120084	G	A	76120084	2	1	16	1	0	0	0	0	0	0	0	1	16019	1280	45	1		1	TMC6	17	76120084	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	36049979	76120084	5075126	95	2627										
TMC6	11322	genome.wustl.edu	37	chr17	76120120	76120120	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aagctcacgcccacagtggaGaggtaggccaggggcatgtt	15	10	1	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:76120120G>C	ENST00000590602.1	-	9	1191	c.1032C>G	c.(1030-1032)ctC>ctG	p.L344L	TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Silent_p.L344L|TMC6_ENST00000589553.1_Silent_p.L117L|TMC6_ENST00000306591.7_Silent_p.L344L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Silent_p.L344L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	344					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCACAGTGGAGAGGTAGGCCA	0.617																																																	0													92	82	86					17																	76120120		2203	4300	6503	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1032C>G	17.37:g.76120120G>C			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.L344	ENST00000590602.1	37	c.1032	CCDS32748.1	17																																																																																			TMC6	-	NULL		0.617	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76120120	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	1.000	C	C	76120120	G	C	76120120	2	2	16	1	0	0	0	0	0	0	0	1	16019	929	33	1		1	TMC6	17	76120120	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	36	76120120	5075090	96	2628										
BAIAP2	10458	genome.wustl.edu	37	chr17	79073865	79073865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gccgtggccaagaactccgcGgcctaccactccaaggtgag	12	15	0	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:79073865G>A	ENST00000321300.6	+	7	720	c.627G>A	c.(625-627)gcG>gcA	p.A209A	BAIAP2_ENST00000575712.1_Silent_p.A209A|BAIAP2_ENST00000392411.3_Silent_p.A131A|BAIAP2_ENST00000416299.2_Silent_p.A72A|BAIAP2_ENST00000321280.7_Silent_p.A209A|BAIAP2_ENST00000575245.1_Silent_p.A242A|BAIAP2_ENST00000428708.2_Silent_p.A209A|BAIAP2_ENST00000435091.3_Silent_p.A209A	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	209	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAACTCCGCGGCCTACCACT	0.672																																																	0													26	28	27					17																	79073865		2202	4299	6501	SO:0001819	synonymous_variant	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.627G>A	17.37:g.79073865G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A209	ENST00000321300.6	37	c.627	CCDS11775.1	17																																																																																			BAIAP2	-	pfam_IRSp53/MIM_homology_IMD		0.672	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	G			79073865	1	no_errors	ENST00000321300	ensembl	human	known	70_37	silent	SNP	0.700	A	A	79073865	G	A	79073865	2	1	16	1	0	0	0	0	0	0	0	1	1302	1103	39	2		2	BAIAP2	17	79073865	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	2953745	79073865	2121345	97	2629										
ARHGDIA	396	genome.wustl.edu	37	chr17	79827245	79827245	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cggtactccacaccctccttCagcacaaacgactgcttctt	5	17	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:79827245C>A	ENST00000269321.7	-	4	447	c.312G>T	c.(310-312)ctG>ctT	p.L104L	RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000541078.2_Silent_p.L104L|ARHGDIA_ENST00000400721.4_Silent_p.L104L|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000580685.1_Silent_p.L104L|ARHGDIA_ENST00000584461.1_Silent_p.L104L|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	104					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACCCTCCTTCAGCACAAACG	0.637																																																	0													106	125	118					17																	79827245		2203	4298	6501	SO:0001819	synonymous_variant	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.312G>T	17.37:g.79827245C>A			A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.L104	ENST00000269321.7	37	c.312	CCDS11788.1	17																																																																																			ARHGDIA	-	pfam_Rho_GDI,superfamily_Ig_E-set		0.637	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIA	HGNC	protein_coding	OTTHUMT00000441679.2	C	NM_004309		79827245	-1	no_errors	ENST00000269321	ensembl	human	known	70_37	silent	SNP	0.999	A	A	79827245	C	A	79827245	2	1	16	1	0	0	0	0	0	0	0	1	890	813	29	3		3	ARHGDIA	17	79827245	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	753380	79827245	1367965	98	2630										
B3GNTL1	146712	genome.wustl.edu	37	chr17	80963069	80963069	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gagttagggggatctctcctCactctgcaaccaatgatctg	10	11	4	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:80963069C>T	ENST00000320865.3	-	6	439	c.426G>A	c.(424-426)gtG>gtA	p.V142V	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_Silent_p.V31V	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	142							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GATCTCTCCTCACTCTGCAAC	0.532																																																	0													183	156	165					17																	80963069		2203	4300	6503	SO:0001819	synonymous_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.426G>A	17.37:g.80963069C>T			Q6GV30|Q8WUT3	Silent	SNP	pfam_Glyco_trans_2	p.V142	ENST00000320865.3	37	c.426	CCDS32778.1	17																																																																																			B3GNTL1	-	pfam_Glyco_trans_2		0.532	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	HGNC	protein_coding	OTTHUMT00000438949.1	C	NM_001009905		80963069	-1	no_errors	ENST00000320865	ensembl	human	known	70_37	silent	SNP	0.928	T	T	80963069	C	T	80963069	2	4	16	1	0	0	0	0	0	0	0	1	1266	813	29	1		1	B3GNTL1	17	80963069	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	1135824	80963069	232141	99	2631										
KIAA1632	57724	genome.wustl.edu	37	chr18	43532381	43532381	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	catacctcggccttgctggtGaattgctgaagatctcagaa	10	10	1	4			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr18:43532381G>A	ENST00000282041.5	-	3	1271	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	413					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTTGCTGGTGAATTGCTGAA	0.403																																																	0													113	104	107					18																	43532381		1901	4134	6035	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1237C>T	18.37:g.43532381G>A	ENSP00000282041:p.His413Tyr		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.H413Y	ENST00000282041.5	37	c.1237	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.324903	0.00229	.	.	ENSG00000152223	ENST00000282041	T	0.80393	-1.37	5.38	2.62	0.31277	.	0.367213	0.24698	N	0.036337	T	0.49983	0.1589	N	0.01482	-0.84	0.21719	N	0.999578	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38993	-0.9635	10	0.19590	T	0.45	-2.7417	6.0124	0.19584	0.22:0.1368:0.6432:0.0	.	413;413	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Y	413	ENSP00000282041:H413Y	ENSP00000282041:H413Y	H	-	1	0	EPG5	41786379	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	2.533000	0.45667	0.349000	0.23975	-0.215000	0.12644	CAC	EPG5	-	NULL		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43532381	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	missense	SNP	0.967	A	A	43532381	G	A	43532381	3	1	16	1	0	0	0	0	1	0	0	0	8269	1290	45	1	6670	1	KIAA1632	18	43532381	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08		43532381	34544867	100	2632										
SH3GL1	6455	genome.wustl.edu	37	chr19	4362616	4362616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	catgccccattacctgcgatCttgggggctgtggtgcaggg	15	11	1	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:4362616C>G	ENST00000269886.3	-	8	1024	c.846G>C	c.(844-846)aaG>aaC	p.K282N	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.K218N|SH3GL1_ENST00000417295.2_Missense_Mutation_p.K234N	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	282					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TACCTGCGATCTTGGGGGCTG	0.652			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													36	38	37					19																	4362616		2203	4300	6503	SO:0001583	missense	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.846G>C	19.37:g.4362616C>G	ENSP00000269886:p.Lys282Asn		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.K282N	ENST00000269886.3	37	c.846	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	8.277	0.814689	0.16607	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.34667	1.77;1.35	4.81	3.76	0.43208	.	0.000000	0.56097	D	0.000029	T	0.35307	0.0927	M	0.74647	2.275	0.25751	N	0.985055	B;B;B	0.32781	0.384;0.073;0.073	B;B;B	0.35182	0.197;0.066;0.066	T	0.20207	-1.0282	10	0.22706	T	0.39	0.2888	6.8684	0.24106	0.0:0.7232:0.1798:0.0971	.	234;282;282	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	N	282;234	ENSP00000269886:K282N;ENSP00000404568:K234N	ENSP00000269886:K282N	K	-	3	2	SH3GL1	4313616	0.099000	0.21834	0.807000	0.32361	0.308000	0.27856	0.084000	0.14891	0.985000	0.38656	0.561000	0.74099	AAG	SH3GL1	-	NULL		0.652	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	C	NM_003025		4362616	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	missense	SNP	0.447	G	G	4362616	C	G	4362616	3	3	16	1	0	0	0	0	1	0	0	0	14280	912	32	1	272	1	SH3GL1	19	4362616	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		4362616	54766367	101	2633										
FBXW9	84261	genome.wustl.edu	37	chr19	12805444	12805444	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cgcttagtgcctaaggtcttGatcagaacctggttggactc	11	10	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:12805444G>C	ENST00000380339.3	-	3	678	c.642C>G	c.(640-642)atC>atG	p.I214M	FBXW9_ENST00000587955.1_Missense_Mutation_p.I204M|FBXW9_ENST00000544494.1_De_novo_Start_OutOfFrame|FBXW9_ENST00000393261.3_Missense_Mutation_p.I214M			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	214					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.I214M(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTAAGGTCTTGATCAGAACCT	0.572																																																	1	Substitution - Missense(1)	urinary_tract(1)											67	75	72					19																	12805444		2087	4208	6295	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.642C>G	19.37:g.12805444G>C	ENSP00000369696:p.Ile214Met		B3KVP7|Q9BT89	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I214M	ENST00000380339.3	37	c.642		19	.	.	.	.	.	.	.	.	.	.	G	5.598	0.295089	0.10622	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.20738	2.05;2.05	4.29	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.407296	0.23824	N	0.044211	T	0.20047	0.0482	L	0.42686	1.345	0.80722	D	1	B;B;B	0.16802	0.001;0.0;0.019	B;B;B	0.23018	0.005;0.001;0.043	T	0.07520	-1.0768	10	0.54805	T	0.06	-29.1284	13.8502	0.63492	0.0:0.6341:0.3659:0.0	.	204;214;214	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	M	214	ENSP00000376945:I214M;ENSP00000369696:I214M	ENSP00000369696:I214M	I	-	3	3	FBXW9	12666444	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	0.734000	0.26101	0.412000	0.25729	0.462000	0.41574	ATC	FBXW9	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.572	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		G	NM_032301		12805444	-1	no_errors	ENST00000380339	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12805444	G	C	12805444	3	2	16	1	0	0	0	0	1	0	0	0	5789	1280	45	1	766	1	FBXW9	19	12805444	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	8442828	12805444	46323539	102	2634										
ZNF568	374900	genome.wustl.edu	37	chr19	37441146	37441146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tggggagaaaccttatgcatGtaatgaatgtggtagagctt	13	4	0	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:37441146G>A	ENST00000333987.7	+	7	1597	c.1091G>A	c.(1090-1092)tGt>tAt	p.C364Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.C300Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGCATGTAATGAATGT	0.383																																																	0													79	86	83					19																	37441146		2192	4295	6487	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1091G>A	19.37:g.37441146G>A	ENSP00000334685:p.Cys364Tyr		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C364Y	ENST00000333987.7	37	c.1091	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894459	0.72639	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	D;D	0.85088	-1.94;-1.94	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001201	D	0.94528	0.8238	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95943	0.8948	10	0.87932	D	0	.	14.4604	0.67445	0.0:0.0:1.0:0.0	.	364	Q3ZCX4	ZN568_HUMAN	Y	364;300	ENSP00000334685:C364Y;ENSP00000394514:C300Y	ENSP00000334685:C364Y	C	+	2	0	ZNF568	42132986	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.857000	0.69525	2.338000	0.79540	0.655000	0.94253	TGT	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	G	NM_198539		37441146	1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37441146	G	A	37441146	3	1	16	1	0	0	0	0	1	0	0	0	18029	1377	48	4	1109	4	ZNF568	19	37441146	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	24635702	37441146	21687837	103	2635										
ETHE1	23474	genome.wustl.edu	37	chr19	44030500	44030500	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tccgcgtggcagtgggtattCactgggagagagaggaggga	19	6	1	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:44030500C>A	ENST00000292147.2	-	3	294	c.228G>T	c.(226-228)gtG>gtT	p.V76V	ETHE1_ENST00000600651.1_Splice_Site_p.V76V|ZNF575_ENST00000458714.2_Intron	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	76					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				AGTGGGTATTCACTGGGAGAG	0.637																																																	0													49	49	49					19																	44030500		2203	4300	6503	SO:0001630	splice_region_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.227-1G>T	19.37:g.44030500C>A			Q96HR0|Q9H001	Silent	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.V76	ENST00000292147.2	37	c.228	CCDS12622.1	19																																																																																			ETHE1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.637	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	C	NM_014297	Silent	44030500	-1	no_errors	ENST00000292147	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44030500	C	A	44030500	5	1	16	1	0	0	0	0	0	0	1	0	5284	840	29	3	556	3	ETHE1	19	44030500	Splice_Site	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	6589354	44030500	15098483	104	2636										
SLC12A5	57468	genome.wustl.edu	37	chr20	44665958	44665958	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	tttgggggtgccgtgggcctCtgcttctacctgggcactac	14	12	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr20:44665958C>T	ENST00000454036.2	+	6	664	c.615C>T	c.(613-615)ctC>ctT	p.L205L	SLC12A5_ENST00000243964.3_Silent_p.L182L|SLC12A5_ENST00000372315.1_Silent_p.L182L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	205					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGTGGGCCTCTGCTTCTACC	0.587																																																	0													87	75	79					20																	44665958		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.615C>T	20.37:g.44665958C>T			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L205	ENST00000454036.2	37	c.615	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.587	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44665958	1	no_errors	ENST00000454036	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44665958	C	T	44665958	2	4	16	1	0	0	0	0	0	0	0	1	14416	900	32	1		1	SLC12A5	20	44665958	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		44665958	18359562	105	2637										
XKR3	150165	genome.wustl.edu	37	chr22	17288683	17288683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	aaagtaatgcagccttatttCtcctcaagtctttgttgaaa	6	8	3	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:17288683C>G	ENST00000331428.5	-	2	383	c.281G>C	c.(280-282)aGa>aCa	p.R94T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R94I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCCTTATTTCTCCTCAAGTC	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											91	87	88					22																	17288683		1842	4087	5929	SO:0001583	missense	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.281G>C	22.37:g.17288683C>G	ENSP00000331704:p.Arg94Thr		B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R94T	ENST00000331428.5	37	c.281	CCDS42975.1	22	.	.	.	.	.	.	.	.	.	.	.	12.13	1.845653	0.32606	.	.	ENSG00000172967	ENST00000331428	T	0.62788	-0.0	0.473	0.473	0.16763	.	0.153277	0.37809	U	0.001938	T	0.44456	0.1294	L	0.41492	1.28	0.09310	N	1	P	0.52061	0.95	B	0.39119	0.291	T	0.42224	-0.9464	10	0.49607	T	0.09	.	6.8307	0.23909	0.0:0.9998:0.0:2.0E-4	.	94	Q5GH77	XKR3_HUMAN	T	94	ENSP00000331704:R94T	ENSP00000331704:R94T	R	-	2	0	XKR3	15668683	0.697000	0.27767	0.023000	0.16930	0.102000	0.19082	1.225000	0.32551	0.524000	0.28502	0.134000	0.15878	AGA	XKR3	-	pfam_Transport_prot_XK		0.358	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR3	HGNC	protein_coding	OTTHUMT00000289789.1	C	NM_175878		17288683	-1	no_errors	ENST00000331428	ensembl	human	known	70_37	missense	SNP	0.031	G	G	17288683	C	G	17288683	3	3	16	1	0	0	0	0	1	0	0	0	17463	913	32	1	1110	1	XKR3	22	17288683	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08		17288683	34015883	106	2638										
DRG1	4733	genome.wustl.edu	37	chr22	31823084	31823084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ccagttaccagattacacatCcccagtggtgcttccttact	6	14	0	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:31823084C>T	ENST00000331457.4	+	8	1081	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	307					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GATTACACATCCCCAGTGGTG	0.398																																																	0													144	133	137					22																	31823084		2203	4300	6503	SO:0001583	missense	4733			AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"developmentally regulated GTP-binding protein 1"	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.920C>T	22.37:g.31823084C>T	ENSP00000329715:p.Ser307Phe		B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S307F	ENST00000331457.4	37	c.920	CCDS13897.1	22	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679601	0.88542	.	.	ENSG00000185721	ENST00000331457	T	0.18338	2.22	5.96	5.96	0.96718	TGS (1);	0.047096	0.85682	D	0.000000	T	0.36193	0.0958	M	0.79475	2.455	0.80722	D	1	P	0.37083	0.581	P	0.45660	0.489	T	0.06250	-1.0837	10	0.87932	D	0	-27.8884	19.4101	0.94667	0.0:1.0:0.0:0.0	.	307	Q9Y295	DRG1_HUMAN	F	307	ENSP00000329715:S307F	ENSP00000329715:S307F	S	+	2	0	DRG1	30153084	1.000000	0.71417	0.921000	0.36526	0.978000	0.69477	7.298000	0.78815	2.832000	0.97577	0.655000	0.94253	TCC	DRG1	-	pfam_TGS		0.398	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	HGNC	protein_coding	OTTHUMT00000075680.5	C	NM_004147		31823084	1	no_errors	ENST00000331457	ensembl	human	known	70_37	missense	SNP	0.983	T	T	31823084	C	T	31823084	3	4	16	1	0	0	0	0	1	0	0	0	4771	855	30	1	950	1	DRG1	22	31823084	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	14534401	31823084	19481482	107	2639										
NHP2L1	4809	genome.wustl.edu	37	chr22	42071172	42071172	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cagccatcacgatgaactcaGagatgcccctgttgagggtt	11	11	2	3			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:42071172G>C	ENST00000401959.1	-	4	468	c.152C>G	c.(151-153)tCt>tGt	p.S51C	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.S55C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.S51C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.S51C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	51					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GATGAACTCAGAGATGCCCCT	0.557																																																	0													65	63	64					22																	42071172		2203	4300	6503	SO:0001583	missense	4809				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.152C>G	22.37:g.42071172G>C	ENSP00000383949:p.Ser51Cys			Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok	p.S51C	ENST00000401959.1	37	c.152	CCDS14022.1	22	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420346	0.62622	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.176164	0.50627	D	0.000107	T	0.52837	0.1759	L	0.45470	1.425	0.58432	D	0.999994	B	0.24258	0.1	B	0.31245	0.126	T	0.48948	-0.8989	10	0.42905	T	0.14	.	19.4053	0.94646	0.0:0.0:1.0:0.0	.	51	P55769	NH2L1_HUMAN	C	51;51;51;55	ENSP00000347401:S51C;ENSP00000215956:S51C;ENSP00000383949:S51C;ENSP00000383989:S55C	ENSP00000215956:S51C	S	-	2	0	NHP2L1	40401118	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.666000	0.90696	0.591000	0.81541	TCT	NHP2L1	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_Ribosomal_L7Ae_prok		0.557	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NHP2L1	HGNC	protein_coding	OTTHUMT00000321682.1	G	NM_001003796		42071172	-1	no_errors	ENST00000215956	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42071172	G	C	42071172	3	2	16	1	0	0	0	0	1	0	0	0	10434	942	33	1	238	1	NHP2L1	22	42071172	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	10248088	42071172	9233394	108	2640										
ACR	49	genome.wustl.edu	37	chr22	51183146	51183146	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gcctatgtggtcgtgggaatCacaagctggggggtaggctg	18	7	1	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:51183146C>T	ENST00000216139.5	+	5	817	c.777C>T	c.(775-777)atC>atT	p.I259I	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	259	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TCGTGGGAATCACAAGCTGGG	0.592																																																	0													39	41	40					22																	51183146		2202	4300	6502	SO:0001819	synonymous_variant	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.777C>T	22.37:g.51183146C>T			Q6ICK2	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.I259	ENST00000216139.5	37	c.777	CCDS14101.1	22																																																																																			ACR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6		0.592	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	C	NM_001097		51183146	1	no_errors	ENST00000216139	ensembl	human	known	70_37	silent	SNP	0.829	T	T	51183146	C	T	51183146	2	4	16	1	0	0	0	0	0	0	0	1	169	816	29	1		1	ACR	22	51183146	Silent	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	9111974	51183146	121420	109	2641										
MED12	9968	genome.wustl.edu	37	chrX	70348264	70348264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ctaacaatggcacttgtggtTtcaacgatctcctctgcaat	7	11	3	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:70348264T>C	ENST00000374080.3	+	23	3360	c.3328T>C	c.(3328-3330)Ttc>Ctc	p.F1110L	MED12_ENST00000374102.1_Missense_Mutation_p.F1110L|MED12_ENST00000333646.6_Missense_Mutation_p.F1110L			Q93074	MED12_HUMAN	mediator complex subunit 12	1110					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CACTTGTGGTTTCAACGATCT	0.547			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													149	137	141					X																	70348264		2120	4227	6347	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3328T>C	X.37:g.70348264T>C	ENSP00000363193:p.Phe1110Leu		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.F1110L	ENST00000374080.3	37	c.3328	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	25.0	4.593752	0.86953	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.992;0.999;0.998	D;D;D;D	0.79784	0.993;0.91;0.978;0.984	T	0.68538	-0.5382	10	0.87932	D	0	-17.9803	13.4703	0.61278	0.0:0.0:0.0:1.0	.	1110;957;1110;1110	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1110;1110;1110;1110;1078	ENSP00000333125:F1110L;ENSP00000363215:F1110L;ENSP00000363193:F1110L;ENSP00000414203:F1078L	ENSP00000333125:F1110L	F	+	1	0	MED12	70264989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.302000	0.78861	1.821000	0.53095	0.486000	0.48141	TTC	MED12	-	NULL		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	T	NM_005120		70348264	1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70348264	T	C	70348264	3	2	16	1	0	0	0	0	1	0	0	0	9451	1841	64	5	3418	5	MED12	23	70348264	Missense_Mutation	SNP	T	TCGA-C5-A1M7-01A-11D-A13W-08		70348264	84922296	110	2642										
ARMCX2	9823	genome.wustl.edu	37	chrX	100911645	100911645	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gccccatctccaggacggaaGcccatccccagttcgtctac	8	18	2	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:100911645G>T	ENST00000328766.5	-	5	1383	c.930C>A	c.(928-930)ggC>ggA	p.G310G	ARMCX2_ENST00000356824.4_Silent_p.G310G|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.G310G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	310						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CAGGACGGAAGCCCATCCCCA	0.597																																																	0													104	116	112					X																	100911645		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.930C>A	X.37:g.100911645G>T			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.G310	ENST00000328766.5	37	c.930	CCDS14490.1	X																																																																																			ARMCX2	-	NULL		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100911645	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	0.998	T	T	100911645	G	T	100911645	2	4	16	1	0	0	0	0	0	0	0	1	961	958	34	4		4	ARMCX2	23	100911645	Silent	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	30563381	100911645	54358915	111	2643										
H2BFWT	158983	genome.wustl.edu	37	chrX	103268225	103268225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	gaagccggggcacttcggtaCgcagcatggctccacgtctc	13	14	1	0	rs372943452		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:103268225C>T	ENST00000217926.5	-	1	34	c.8G>A	c.(7-9)cGt>cAt	p.R3H	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	3						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R3H(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CACTTCGGTACGCAGCATGGC	0.607																																																	1	Substitution - Missense(1)	endometrium(1)						T	HIS/ARG	0,3833		0,0,1632,569	30	25	26		8	-4.7	0	X		26	1,6725		0,1,2427,1870	no	missense	H2BFWT	NM_001002916.3	29	0,1,4059,2439	TT,TC,CC,C		0.0149,0.0,0.0095	benign	3/176	103268225	1,10558	2201	4298	6499	SO:0001583	missense	158983			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.8G>A	X.37:g.103268225C>T	ENSP00000354723:p.Arg3His		B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.R3H	ENST00000217926.5	37	c.8	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	4.616	0.114424	0.08831	0.0	1.49E-4	ENSG00000123569	ENST00000217926	T	0.26518	1.73	2.33	-4.66	0.03329	.	.	.	.	.	T	0.10981	0.0268	N	0.19112	0.55	0.09310	N	1	B	0.28055	0.199	B	0.12156	0.007	T	0.11299	-1.0593	9	0.49607	T	0.09	.	2.0885	0.03651	0.1463:0.188:0.4332:0.2325	.	3	Q7Z2G1	H2BWT_HUMAN	H	3	ENSP00000354723:R3H	ENSP00000354723:R3H	R	-	2	0	H2BFWT	103154881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.835000	0.00180	-2.107000	0.00840	-0.949000	0.02662	CGT	H2BFWT	-	NULL		0.607	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	C	NM_001002916		103268225	-1	no_errors	ENST00000217926	ensembl	human	known	70_37	missense	SNP	0.000	T	T	103268225	C	T	103268225	3	4	16	1	0	0	0	0	1	0	0	0	6952	536	19	2	527	2	H2BFWT	23	103268225	Missense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	2356580	103268225	52002335	112	2644										
BRS3	680	genome.wustl.edu	37	chrX	135570306	135570306	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	cagcctcactcacctaatcaGactttaatttcaatcacaaa	2	13	5	1			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:135570306G>C	ENST00000370648.3	+	1	261	c.33G>C	c.(31-33)caG>caC	p.Q11H	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	11					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CACCTAATCAGACTTTAATTT	0.398																																																	0													81	70	74					X																	135570306		2203	4300	6503	SO:0001583	missense	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.33G>C	X.37:g.135570306G>C	ENSP00000359682:p.Gln11His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.Q11H	ENST00000370648.3	37	c.33	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168703	0.38315	.	.	ENSG00000102239	ENST00000370648	T	0.64085	-0.08	6.03	6.03	0.97812	.	1.343300	0.04420	N	0.367465	T	0.62478	0.2431	L	0.40543	1.245	0.40044	D	0.97569	B	0.33448	0.412	B	0.34722	0.188	T	0.36456	-0.9747	10	0.41790	T	0.15	0.0135	15.6426	0.77016	0.0:0.1334:0.8666:0.0	.	11	P32247	BRS3_HUMAN	H	11	ENSP00000359682:Q11H	ENSP00000359682:Q11H	Q	+	3	2	BRS3	135397972	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.974000	0.63771	2.554000	0.86153	0.600000	0.82982	CAG	BRS3	-	NULL		0.398	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	G	NM_001727		135570306	1	no_errors	ENST00000370648	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135570306	G	C	135570306	3	2	16	1	0	0	0	0	1	0	0	0	1525	933	33	1	35	1	BRS3	23	135570306	Missense_Mutation	SNP	G	TCGA-C5-A1M7-01A-11D-A13W-08	32302081	135570306	19700254	113	2645										
MCF2	4168	genome.wustl.edu	37	chrX	138728984	138728984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	ggtaagtaagtacttttgctAttacttcctctggtatacat	7	7	1	0			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:138728984A>G	ENST00000519895.1	-	3	269	c.104T>C	c.(103-105)aTa>aCa	p.I35T	MCF2_ENST00000370578.4_Missense_Mutation_p.I120T|MCF2_ENST00000520602.1_Missense_Mutation_p.I35T|MCF2_ENST00000414978.1_Missense_Mutation_p.I35T	NM_001171876.1	NP_001165347.1	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACTTTTGCTATTACTTCCTC	0.328																																																	0													57	51	53					X																	138728984		1854	4083	5937	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000519895.1:c.104T>C	X.37:g.138728984A>G	ENSP00000430276:p.Ile35Thr		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I120T	ENST00000519895.1	37	c.359	CCDS55517.1	X	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299758	0.60195	.	.	ENSG00000101977	ENST00000520602;ENST00000370578;ENST00000414978;ENST00000519895	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.7	5.7	0.88788	.	0.219853	0.40554	N	0.001076	T	0.62159	0.2405	L	0.39898	1.24	0.09310	N	0.999998	B;P;P	0.43231	0.425;0.801;0.578	P;B;P	0.48141	0.471;0.412;0.568	T	0.60885	-0.7174	10	0.87932	D	0	.	12.7125	0.57098	1.0:0.0:0.0:0.0	.	35;120;120	E9PH77;B7Z3Z2;Q5JYJ7	.;.;.	T	35;120;35;35	ENSP00000427745:I35T;ENSP00000359610:I120T;ENSP00000397055:I35T;ENSP00000430276:I35T	ENSP00000359610:I120T	I	-	2	0	MCF2	138556650	0.319000	0.24607	0.633000	0.29310	0.995000	0.86356	5.835000	0.69368	1.909000	0.55274	0.486000	0.48141	ATA	MCF2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.328	MCF2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000377602.1	A	NM_005369		138728984	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	missense	SNP	0.235	G	G	138728984	A	G	138728984	3	3	16	1	0	0	0	0	1	0	0	0	9401	449	16	5	3092	5	MCF2	23	138728984	Missense_Mutation	SNP	A	TCGA-C5-A1M7-01A-11D-A13W-08	3158678	138728984	16541576	114	2646										
MAGEC3	139081	genome.wustl.edu	37	chrX	140969327	140969327	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.478260869565217	55	5.8174938171695e-20	3.85824012149178	5.39669825144085	3.20213297783703	0.142420107701584	0.345368761176341	41	atgaatgtcatcaacacataCacgggctactttcctatgat	6	10	2	2			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:140969327C>A	ENST00000298296.1	+	4	654	c.654C>A	c.(652-654)taC>taA	p.Y218*	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	218	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACACATACACGGGCTACT	0.438																																																	0													165	148	154					X																	140969327		2203	4300	6503	SO:0001587	stop_gained	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.654C>A	X.37:g.140969327C>A	ENSP00000298296:p.Tyr218*		Q3SYA7|Q5JZ43|Q9BZ80	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Y218*	ENST00000298296.1	37	c.654	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011995	0.35511	.	.	ENSG00000165509	ENST00000298296	.	.	.	2.26	-2.12	0.07165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.7015	0.05149	0.2224:0.2945:0.0:0.4831	.	.	.	.	X	218	.	ENSP00000298296:Y218X	Y	+	3	2	MAGEC3	140796993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.068000	0.14531	-0.796000	0.04456	-0.328000	0.08392	TAC	MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140969327	1	no_errors	ENST00000298296	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	140969327	C	A	140969327	4	1	16	1	0	0	0	0	0	1	0	0	9205	489	17	4	668	4	MAGEC3	23	140969327	Nonsense_Mutation	SNP	C	TCGA-C5-A1M7-01A-11D-A13W-08	2240343	140969327	14301233	115	2647										
MYOM3	127294	genome.wustl.edu	37	chr1	24434550	24434550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gtagtccgcggcgctgaactCatgctcttcttcgctgctcc	10	15	3	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:24434550C>T	ENST00000374434.3	-	3	337	c.175G>A	c.(175-177)Gag>Aag	p.E59K	MYOM3_ENST00000329601.7_Missense_Mutation_p.E59K|MYOM3_ENST00000330966.7_Missense_Mutation_p.E60K|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	59						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCGCTGAACTCATGCTCTTCT	0.632																																																	0													44	51	49					1																	24434550		2039	4161	6200	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.175G>A	1.37:g.24434550C>T	ENSP00000363557:p.Glu59Lys		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E60K	ENST00000374434.3	37	c.178	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181591	0.01633	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.53640	0.65;0.63;0.61	5.29	1.06	0.20224	.	0.753395	0.11407	N	0.567181	T	0.28200	0.0696	N	0.14661	0.345	0.09310	N	1	B;B	0.19200	0.034;0.009	B;B	0.25291	0.059;0.004	T	0.29549	-1.0008	10	0.12430	T	0.62	.	9.7244	0.40322	0.0:0.4566:0.3986:0.1448	.	59;59	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	K	59;60;59	ENSP00000363557:E59K;ENSP00000332670:E60K;ENSP00000328415:E59K	ENSP00000328415:E59K	E	-	1	0	MYOM3	24307137	0.268000	0.24133	0.036000	0.18154	0.002000	0.02628	0.664000	0.25068	-0.055000	0.13244	-0.311000	0.09066	GAG	MYOM3	-	NULL		0.632	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	C	NM_152372		24434550	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	missense	SNP	0.126	T	T	24434550	C	T	24434550	3	4	17	1	0	0	0	0	1	0	0	0	10116	835	29	1	4278	1	MYOM3	1	24434550	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		24434550	224816071	1	2648										
RNF19B	127544	genome.wustl.edu	37	chr1	33409700	33409700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	taactccacagccgcctccaCgacaaagagaaatgggcaca	8	14	0	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:33409700C>T	ENST00000373456.7	-	6	1324	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	RNF19B_ENST00000356990.5_Missense_Mutation_p.R441H|RNF19B_ENST00000235150.4_Missense_Mutation_p.R441H	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	442					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCGCCTCCACGACAAAGAGA	0.453																																																	0													65	59	61					1																	33409700		2203	4300	6503	SO:0001583	missense	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1325G>A	1.37:g.33409700C>T	ENSP00000362555:p.Arg442His		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R442H	ENST00000373456.7	37	c.1325	CCDS372.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.321485	0.95682	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.58506	0.35;0.54;0.33	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.76083	0.3938	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	T	0.76358	-0.2988	10	0.59425	D	0.04	.	19.7769	0.96398	0.0:1.0:0.0:0.0	.	441;442;441	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	H	442;441;441;340	ENSP00000362555:R442H;ENSP00000349482:R441H;ENSP00000235150:R441H	ENSP00000235150:R441H	R	-	2	0	RNF19B	33182287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	CGT	RNF19B	-	NULL		0.453	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF19B	HGNC	protein_coding	OTTHUMT00000011465.3	C	NM_153341		33409700	-1	no_errors	ENST00000373456	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33409700	C	T	33409700	3	4	17	1	0	0	0	0	1	0	0	0	13501	536	19	2	915	2	RNF19B	1	33409700	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	8975150	33409700	215840921	2	2649										
C1orf94	84970	genome.wustl.edu	37	chr1	34662959	34662959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	aggtacccggcagctctcccGaggggaccagagagctggct	15	13	1	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:34662959G>A	ENST00000488417.1	+	2	574	c.454G>A	c.(454-456)Gag>Aag	p.E152K	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	152										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGCTCTCCCGAGGGGACCAG	0.587																																																	0													29	32	31					1																	34662959		692	1591	2283	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.454G>A	1.37:g.34662959G>A	ENSP00000435634:p.Glu152Lys		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E152K	ENST00000488417.1	37	c.454	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608441	0.14002	.	.	ENSG00000142698	ENST00000488417	T	0.22539	1.95	5.17	-1.84	0.07809	.	.	.	.	.	T	0.11281	0.0275	N	0.22421	0.69	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.27739	-1.0065	9	0.34782	T	0.22	-17.2939	5.1154	0.14831	0.4416:0.1976:0.3608:0.0	.	152	Q6P1W5	CA094_HUMAN	K	152	ENSP00000435634:E152K	ENSP00000435634:E152K	E	+	1	0	C1orf94	34435546	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	0.472000	0.22116	-0.758000	0.04690	-0.136000	0.14681	GAG	C1orf94	-	NULL		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	G	NM_032884		34662959	1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.000	A	A	34662959	G	A	34662959	3	1	17	1	0	0	0	0	1	0	0	0	2076	1059	37	1	460	1	C1orf94	1	34662959	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	1253259	34662959	214587662	3	2650										
ZNF644	84146	genome.wustl.edu	37	chr1	91403562	91403562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cttttcaagtggcctctaacAtgatttgataatccaatttt	5	8	2	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:91403562A>G	ENST00000370440.1	-	4	3385	c.3168T>C	c.(3166-3168)caT>caC	p.H1056H	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.H1056H|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1056					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGCCTCTAACATGATTTGATA	0.358																																																	0													89	88	88					1																	91403562		2203	4300	6503	SO:0001819	synonymous_variant	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3168T>C	1.37:g.91403562A>G			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1056	ENST00000370440.1	37	c.3168	CCDS731.1	1																																																																																			ZNF644	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	A	NM_032186		91403562	-1	no_errors	ENST00000337393	ensembl	human	known	70_37	silent	SNP	1.000	G	G	91403562	A	G	91403562	2	3	17	1	0	0	0	0	0	0	0	1	18090	214	8	5		5	ZNF644	1	91403562	Silent	SNP	A	TCGA-C5-A1M8-01A-21D-A13W-08	56740603	91403562	157847059	4	2651										
AMY2B	280	genome.wustl.edu	37	chr1	104122043	104122043	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cattaaaatctacgtttctgAcgatggcaaagctcattttt	6	8	3	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:104122043A>T	ENST00000361355.4	+	12	2073	c.1457A>T	c.(1456-1458)gAc>gTc	p.D486V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	486					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TACGTTTCTGACGATGGCAAA	0.328																																																	0													232	240	237					1																	104122043		2203	4300	6503	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1457A>T	1.37:g.104122043A>T	ENSP00000354610:p.Asp486Val		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.D486V	ENST00000361355.4	37	c.1457	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	A	4.118	0.020127	0.08006	.	.	ENSG00000240038	ENST00000361355	T	0.76316	-1.01	4.14	-3.22	0.05125	Alpha-amylase, C-terminal all beta (2);Glycosyl hydrolase, family 13, all-beta (1);	1.333080	0.05584	N	0.573391	T	0.53384	0.1793	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.55579	-0.8119	10	0.72032	D	0.01	.	6.1207	0.20151	0.4972:0.2384:0.2644:0.0	.	486	P19961	AMY2B_HUMAN	V	486	ENSP00000354610:D486V	ENSP00000354610:D486V	D	+	2	0	AMY2B	103923566	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	-1.612000	0.02061	-0.387000	0.07809	0.477000	0.44152	GAC	AMY2B	-	pfam_A-amylase_b_C,smart_A-amylase_b_C		0.328	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	A	NM_020978		104122043	1	no_errors	ENST00000361355	ensembl	human	known	70_37	missense	SNP	0.000	T	T	104122043	A	T	104122043	3	4	17	1	0	0	0	0	1	0	0	0	595	275	10	5	1495	5	AMY2B	1	104122043	Missense_Mutation	SNP	A	TCGA-C5-A1M8-01A-21D-A13W-08	12718481	104122043	145128578	5	2652										
RABGAP1L	9910	genome.wustl.edu	37	chr1	174274226	174274226	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cagtcactcctactagtggaGggggtccaatgtcaccccag	11	13	2	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:174274226G>C	ENST00000251507.4	+	11	1600	c.1426G>C	c.(1426-1428)Ggg>Cgg	p.G476R	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.G123R|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G439R	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TACTAGTGGAGGGGGTCCAAT	0.463																																																	0													86	73	78					1																	174274226		2203	4300	6503	SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1426G>C	1.37:g.174274226G>C	ENSP00000251507:p.Gly476Arg		B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.G476R	ENST00000251507.4	37	c.1426	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687553	0.48097	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.43688	0.94;3.53;0.96	5.33	5.33	0.75918	.	0.259162	0.37261	N	0.002175	T	0.34716	0.0907	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.32653	0.31;0.076;0.005;0.005;0.379	B;B;B;B;B	0.30105	0.07;0.052;0.008;0.008;0.111	T	0.09862	-1.0655	10	0.27082	T	0.32	.	15.7623	0.78096	0.0:0.0:1.0:0.0	.	488;123;476;476;439	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	R	439;123;476;488;488	ENSP00000350027:G439R;ENSP00000251507:G476R;ENSP00000403136:G488R	ENSP00000251507:G476R	G	+	1	0	RABGAP1L	172540849	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.759000	0.68785	2.480000	0.83734	0.655000	0.94253	GGG	RABGAP1L	-	NULL		0.463	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	G	NM_001243765		174274226	1	no_errors	ENST00000251507	ensembl	human	known	70_37	missense	SNP	1.000	C	C	174274226	G	C	174274226	3	2	17	1	0	0	0	0	1	0	0	0	12995	1000	35	4	1464	4	RABGAP1L	1	174274226	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	70152183	174274226	74976395	6	2653										
PTPN14	5784	genome.wustl.edu	37	chr1	214549657	214549657	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggggacaacttcacggattcGgctgcgctcggcgttttctg	14	11	2	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:214549657G>A	ENST00000366956.5	-	15	3006	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	938	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACGGATTCGGCTGCGCTCG	0.458																																					Colon(92;557 1424 24372 34121 40073)												0													170	165	167					1																	214549657		2203	4300	6503	SO:0001587	stop_gained	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2812C>T	1.37:g.214549657G>A	ENSP00000355923:p.Arg938*		Q5VSI0	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.R938*	ENST00000366956.5	37	c.2812	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.415788	0.99401	.	.	ENSG00000152104	ENST00000366956	.	.	.	5.12	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0834	0.72133	0.0:0.0:0.8571:0.1429	.	.	.	.	X	938	.	ENSP00000355923:R938X	R	-	1	2	PTPN14	212616280	1.000000	0.71417	0.987000	0.45799	0.739000	0.42172	6.508000	0.73721	1.153000	0.42468	-0.152000	0.13540	CGA	PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt		0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	G	NM_005401		214549657	-1	no_errors	ENST00000366956	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	214549657	G	A	214549657	4	1	17	1	0	0	0	0	0	1	0	0	12811	1124	39	2	771	2	PTPN14	1	214549657	Nonsense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	40275431	214549657	34700964	7	2654										
ABCB10	23456	genome.wustl.edu	37	chr1	229667459	229667459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cccagtcctttcatcagctcCgagtagaaagagctcagacc	8	14	3	3			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:229667459C>T	ENST00000344517.4	-	7	1401	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	453	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.S453S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCAGCTCCGAGTAGAAAG	0.547																																																	1	Substitution - coding silent(1)	lung(1)											56	62	60					1																	229667459		2203	4300	6503	SO:0001819	synonymous_variant	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1359G>A	1.37:g.229667459C>T			Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S453	ENST00000344517.4	37	c.1359	CCDS1580.1	1																																																																																			ABCB10	-	superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.547	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	C	NM_012089		229667459	-1	no_errors	ENST00000344517	ensembl	human	known	70_37	silent	SNP	0.021	T	T	229667459	C	T	229667459	2	4	17	1	0	0	0	0	0	0	0	1	41	639	23	2		2	ABCB10	1	229667459	Silent	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	15117802	229667459	19583162	8	2655										
OR2M7	391196	genome.wustl.edu	37	chr1	248487506	248487506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggtggcaaatggcagtgtagCggtcataagacataacagcc	13	8	1	1	rs543782719		TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr1:248487506C>T	ENST00000317965.2	-	1	393	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCAGTGTAGCGGTCATAAGA	0.448													c|||	1	0.000199681	0	0	5008	,	,		21517	0		0.001	False		,,,				2504	0																0													232	232	232					1																	248487506		2203	4300	6503	SO:0001583	missense	391196			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.365G>A	1.37:g.248487506C>T	ENSP00000324557:p.Arg122His		B2RNL0|Q6IEX6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122H	ENST00000317965.2	37	c.365	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403260	0.25291	.	.	ENSG00000177186	ENST00000317965	T	0.77489	-1.1	1.54	0.559	0.17272	GPCR, rhodopsin-like superfamily (1);	0.527939	0.14190	N	0.335397	T	0.79263	0.4416	M	0.91717	3.235	0.24688	N	0.993326	B	0.15473	0.013	B	0.12156	0.007	T	0.71919	-0.4447	10	0.62326	D	0.03	.	7.6446	0.28312	0.0:0.8554:0.0:0.1446	.	122	Q8NG81	OR2M7_HUMAN	H	122	ENSP00000324557:R122H	ENSP00000324557:R122H	R	-	2	0	OR2M7	246554129	0.774000	0.28592	0.064000	0.19789	0.030000	0.12068	1.439000	0.35013	0.008000	0.14787	-1.206000	0.01644	CGC	OR2M7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	C	NM_001004691		248487506	-1	no_errors	ENST00000317965	ensembl	human	known	70_37	missense	SNP	1.000	T	T	248487506	C	T	248487506	3	4	17	1	0	0	0	0	1	0	0	0	11038	768	27	2	576	2	OR2M7	1	248487506	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	18820047	248487506	763115	9	2656										
REL	5966	genome.wustl.edu	37	chr2	61144086	61144086	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgtgttttcaagtttttctcCctgatgaacatggtaatttg	8	6	2	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr2:61144086C>G	ENST00000295025.8	+	5	789	c.469C>G	c.(469-471)Cct>Gct	p.P157A	REL_ENST00000394479.3_Missense_Mutation_p.P157A	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	157	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGTTTTTCTCCCTGATGAACA	0.343			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													182	171	174					2																	61144086		2203	4300	6503	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.469C>G	2.37:g.61144086C>G	ENSP00000295025:p.Pro157Ala		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.P157A	ENST00000295025.8	37	c.469	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703752	0.48412	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.43688	0.94;0.94	5.82	4.95	0.65309	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.184057	0.49305	D	0.000150	T	0.35653	0.0939	L	0.53249	1.67	0.45662	D	0.998582	B;B	0.31625	0.106;0.332	B;B	0.27887	0.029;0.084	T	0.12116	-1.0560	10	0.22706	T	0.39	-0.0115	11.8774	0.52554	0.0:0.8602:0.0:0.1398	.	157;157	Q17RU2;Q04864	.;REL_HUMAN	A	157	ENSP00000295025:P157A;ENSP00000377989:P157A	ENSP00000295025:P157A	P	+	1	0	REL	60997590	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	4.550000	0.60733	1.468000	0.48064	0.591000	0.81541	CCT	REL	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.343	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	C	NM_002908		61144086	1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61144086	C	G	61144086	3	3	17	1	0	0	0	0	1	0	0	0	13245	623	22	4	487	4	REL	2	61144086	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		61144086	182055287	10	2657										
LRP1B	53353	genome.wustl.edu	37	chr2	141032110	141032110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ttggacagacacattcaacaCttccatcatccccaatggta	5	13	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr2:141032110C>T	ENST00000389484.3	-	85	13996	c.13025G>A	c.(13024-13026)aGt>aAt	p.S4342N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4342	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S4342N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTCAACACTTCCATCATC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	lung(1)											155	125	135					2																	141032110		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13025G>A	2.37:g.141032110C>T	ENSP00000374135:p.Ser4342Asn		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4342N	ENST00000389484.3	37	c.13025	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.712859|2.712859	0.48517|0.48517	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90732|.	-2.72|.	5.36|5.36	3.38|3.38	0.38709|0.38709	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.379661|.	0.27275|.	U|.	0.020110|.	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.14661|0.14661	0.345|0.345	0.22446|0.22446	N|N	0.999099|0.999099	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.13853|.	T|.	0.58|.	.|.	8.2943|8.2943	0.31976|0.31976	0.0:0.6191:0.3005:0.0805|0.0:0.6191:0.3005:0.0805	.|.	4342|.	Q9NZR2|.	LRP1B_HUMAN|.	N|M	4342;4280|574;74	ENSP00000374135:S4342N|.	ENSP00000374135:S4342N|.	S|V	-|-	2|1	0|0	LRP1B|LRP1B	140748580|140748580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.256000|1.256000	0.32921|0.32921	1.189000|1.189000	0.43028|0.43028	0.655000|0.655000	0.94253|0.94253	AGT|GTG	LRP1B	-	smart_EG-like_dom,pfscan_EG-like_dom		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141032110	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	0.863	T	T	141032110	C	T	141032110	3	4	17	1	0	0	0	0	1	0	0	0	8978	565	20	4	802	4	LRP1B	2	141032110	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	79888024	141032110	102167263	11	2658										
OBSL1	23363	genome.wustl.edu	37	chr2	220432984	220432984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gggtactttacattccagcaCggcaatcccgtgctcacggc	10	14	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr2:220432984C>T	ENST00000404537.1	-	2	1131	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Missense_Mutation_p.V359M|OBSL1_ENST00000289656.3_De_novo_Start_InFrame|OBSL1_ENST00000603926.1_Missense_Mutation_p.V359M|OBSL1_ENST00000373876.1_Missense_Mutation_p.V359M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V359M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	359	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CATTCCAGCACGGCAATCCCG	0.652											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													23	27	26					2																	220432984		1950	4130	6080	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1075G>A	2.37:g.220432984C>T	ENSP00000385636:p.Val359Met	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V359M	ENST00000404537.1	37	c.1075	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995401	0.74703	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20292	0.0488	L	0.56396	1.775	0.50171	D	0.999857	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.00036	-1.2258	9	0.49607	T	0.09	.	13.1804	0.59651	0.0:0.9237:0.0:0.0763	.	359;359	O75147;O75147-2	OBSL1_HUMAN;.	M	359	ENSP00000265318:V359M;ENSP00000385636:V359M;ENSP00000362983:V359M;ENSP00000362980:V359M	ENSP00000265318:V359M	V	-	1	0	OBSL1	220141228	0.998000	0.40836	0.961000	0.40146	0.991000	0.79684	3.741000	0.55090	2.694000	0.91930	0.650000	0.86243	GTG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220432984	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.996	T	T	220432984	C	T	220432984	3	4	17	1	0	0	0	0	1	0	0	0	10837	536	19	2	4847	2	OBSL1	2	220432984	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	79400874	220432984	22766389	12	2659										
PTPN13	5783	genome.wustl.edu	37	chr4	87693987	87693987	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gcagagttatcaaccccaatCagaatctgcttcctctagtt	6	12	4	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr4:87693987C>T	ENST00000411767.2	+	32	5288	c.5225C>T	c.(5224-5226)tCa>tTa	p.S1742L	PTPN13_ENST00000427191.2_Missense_Mutation_p.S1723L|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1747L|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1551L|PTPN13_ENST00000436978.1_Missense_Mutation_p.S1747L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1742	Poly-Ser.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAACCCCAATCAGAATCTGCT	0.383																																																	0													136	130	132					4																	87693987		1839	4085	5924	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5225C>T	4.37:g.87693987C>T	ENSP00000407249:p.Ser1742Leu		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1747L	ENST00000411767.2	37	c.5240	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	C	8.409	0.843757	0.16963	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.52526	0.67;0.68;0.76;0.66;0.68	5.78	1.64	0.23874	.	0.771697	0.10908	N	0.620869	T	0.31796	0.0808	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.004;0.002;0.004	T	0.21109	-1.0255	10	0.27082	T	0.32	.	8.1421	0.31089	0.0:0.5986:0.0:0.4014	.	1551;1723;1742;1747	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	1723;1747;1551;1742;1747;1691	ENSP00000408368:S1723L;ENSP00000394794:S1747L;ENSP00000322675:S1551L;ENSP00000407249:S1742L;ENSP00000426626:S1747L	ENSP00000322675:S1551L	S	+	2	0	PTPN13	87913011	0.002000	0.14202	0.052000	0.19188	0.495000	0.33615	0.151000	0.16283	0.382000	0.24878	0.563000	0.77884	TCA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	C			87693987	1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	0.011	T	T	87693987	C	T	87693987	3	4	17	1	0	0	0	0	1	0	0	0	12810	838	29	1	5362	1	PTPN13	4	87693987	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		87693987	103460289	13	2660										
SPEF2	79925	genome.wustl.edu	37	chr5	35695837	35695837	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	accacttttcctattgctagGtgctaatgctgataaaacac	6	10	0	1	rs372421308		TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr5:35695837G>T	ENST00000356031.3	+	14	2130	c.1976G>T	c.(1975-1977)aGt>aTt	p.S659I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Splice_Site_p.G654V|SPEF2_ENST00000440995.2_Splice_Site_p.G654V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	659					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTATTGCTAGGTGCTAATGCT	0.318																																																	0													126	115	118					5																	35695837		1841	4089	5930	SO:0001630	splice_region_variant	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1976-1G>T	5.37:g.35695837G>T			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.S659I	ENST00000356031.3	37	c.1976	CCDS43309.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.454|5.454	0.268921|0.268921	0.10349|0.10349	.|.	.|.	ENSG00000152582|ENSG00000152582	ENST00000509059;ENST00000440995;ENST00000504054|ENST00000356031	T;T;T|T	0.31510|0.06687	3.26;3.35;1.49|3.27	4.79|4.79	1.03|1.03	0.20045|0.20045	.|.	.|0.643829	.|0.16148	.|N	.|0.227419	T|T	0.05960|0.05960	0.0155|0.0155	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P;P|B	0.50710|0.28512	0.938;0.61|0.214	B;B|B	0.43508|0.22386	0.422;0.277|0.039	T|T	0.41142|0.41142	-0.9525|-0.9525	8|9	.|.	.|.	.|.	.|.	7.5463|7.5463	0.27768|0.27768	0.361:0.0:0.639:0.0|0.361:0.0:0.639:0.0	.|.	654;654|659	D6REZ4;Q9C093-2|Q9C093	.;.|SPEF2_HUMAN	V|I	654;654;165|659	ENSP00000421593:G654V;ENSP00000412125:G654V;ENSP00000421744:G165V|ENSP00000348314:S659I	.|.	G|S	+|+	2|2	0|0	SPEF2|SPEF2	35731594|35731594	0.373000|0.373000	0.25073|0.25073	0.621000|0.621000	0.29145|0.29145	0.018000|0.018000	0.09664|0.09664	-0.386000|-0.386000	0.07370|0.07370	0.056000|0.056000	0.16144|0.16144	-0.964000|-0.964000	0.02622|0.02622	GGT|AGT	SPEF2	-	NULL		0.318	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722	Missense_Mutation	35695837	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.862	T	T	35695837	G	T	35695837	5	4	17	1	0	0	0	0	0	0	1	0	15065	1275	44	4	2051	4	SPEF2	5	35695837	Splice_Site	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		35695837	145219423	14	2661										
GABRA1	2554	genome.wustl.edu	37	chr5	161281255	161281255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tcctagatggttatgacaatCgcctgagaccaggattggga	12	8	0	3			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr5:161281255C>T	ENST00000428797.2	+	4	521	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	GABRA1_ENST00000437025.2_Missense_Mutation_p.R56C|GABRA1_ENST00000023897.6_Missense_Mutation_p.R56C|GABRA1_ENST00000444819.1_Missense_Mutation_p.R56C|GABRA1_ENST00000393943.4_Missense_Mutation_p.R56C|GABRA1_ENST00000420560.1_Missense_Mutation_p.R56C	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	56					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTATGACAATCGCCTGAGACC	0.373																																																	0													98	101	100					5																	161281255		2203	4300	6503	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.166C>T	5.37:g.161281255C>T	ENSP00000393097:p.Arg56Cys		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R56C	ENST00000428797.2	37	c.166	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876861	0.91664	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.21;-1.38;-1.21;-1.38;-1.38	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94345	0.7574	10	0.87932	D	0	.	19.7945	0.96474	0.0:1.0:0.0:0.0	.	56	P14867	GBRA1_HUMAN	C	56;56;56;56;62;56;56;56;56	ENSP00000023897:R56C;ENSP00000393097:R56C;ENSP00000377517:R56C;ENSP00000415441:R56C;ENSP00000430895:R62C;ENSP00000408041:R56C;ENSP00000430507:R56C;ENSP00000414232:R56C;ENSP00000430435:R56C	ENSP00000023897:R56C	R	+	1	0	GABRA1	161213833	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.539000	0.67199	2.746000	0.94184	0.591000	0.81541	CGC	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel		0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	C	NM_000806.5		161281255	1	no_errors	ENST00000023897	ensembl	human	known	70_37	missense	SNP	1.000	T	T	161281255	C	T	161281255	3	4	17	1	0	0	0	0	1	0	0	0	6178	884	31	1	172	1	GABRA1	5	161281255	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	125585418	161281255	19634005	15	2662										
C6orf27	80737	genome.wustl.edu	37	chr6	31733527	31733527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	aggatcgggtcagatgagccGgtaggggtggtgtgccggtc	20	7	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr6:31733527G>A	ENST00000375688.4	-	17	2720	c.2520C>T	c.(2518-2520)acC>acT	p.T840T	VWA7_ENST00000375686.3_Missense_Mutation_p.R850W|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	840						extracellular region (GO:0005576)											CAGATGAGCCGGTAGGGGTGG	0.617																																																	0													81	42	56					6																	31733527		1510	2707	4217	SO:0001819	synonymous_variant	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2520C>T	6.37:g.31733527G>A			A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.R850W	ENST00000375688.4	37	c.2548	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950416	0.34377	.	.	ENSG00000204396	ENST00000375686	T	0.15603	2.41	4.87	2.51	0.30379	.	.	.	.	.	T	0.08358	0.0208	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26018	-1.0115	6	0.62326	D	0.03	-0.7774	6.6044	0.22718	0.2882:0.0:0.7118:0.0	.	.	.	.	W	850	ENSP00000364838:R850W	ENSP00000364838:R850W	R	-	1	2	C6orf27	31841506	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.136000	0.15974	0.443000	0.26582	0.650000	0.86243	CGG	VWA7	-	NULL		0.617	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	G	NM_025258		31733527	-1	no_errors	ENST00000375686	ensembl	human	known	70_37	missense	SNP	0.001	A	A	31733527	G	A	31733527	2	1	17	1	0	0	0	0	0	0	0	1	2367	1103	39	2		2	C6orf27	6	31733527	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		31733527	139381540	16	2663										
PSMB8	5696	genome.wustl.edu	37	chr6	32810842	32810842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gttcctttctccgtccccacCcagggactggaagaattctg	9	14	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr6:32810842C>T	ENST00000374882.3	-	2	222	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000395339.3_Missense_Mutation_p.G58S|PSMB8_ENST00000374881.2_Missense_Mutation_p.G54S	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	58					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.G54C(1)|p.G58C(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CCGTCCCCACCCAGGGACTGG	0.498																																					NSCLC(48;53 1172 10859 13624 22883)												2	Substitution - Missense(2)	large_intestine(2)											76	73	74					6																	32810842		1511	2709	4220	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.172G>A	6.37:g.32810842C>T	ENSP00000364016:p.Gly58Ser		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.G58S	ENST00000374882.3	37	c.172	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335346	0.24253	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.37235	1.21;1.86;1.85	5.91	-1.26	0.09376	.	0.797554	0.11795	N	0.528734	T	0.07548	0.0190	L	0.54323	1.7	0.09310	N	1	B;B;B	0.19583	0.037;0.001;0.0	B;B;B	0.14023	0.01;0.006;0.001	T	0.39440	-0.9614	10	0.07644	T	0.81	-2.3013	2.4636	0.04547	0.1135:0.4458:0.1104:0.3303	.	58;54;58	B7Z6U7;P28062-2;P28062	.;.;PSB8_HUMAN	S	58;58;54	ENSP00000378748:G58S;ENSP00000364016:G58S;ENSP00000364015:G54S	ENSP00000364015:G54S	G	-	1	0	PSMB8	32918820	0.001000	0.12720	0.000000	0.03702	0.113000	0.19764	0.156000	0.16382	-0.624000	0.05611	-0.917000	0.02746	GGT	PSMB8	-	NULL		0.498	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	C	NM_148919		32810842	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	0.003	T	T	32810842	C	T	32810842	3	4	17	1	0	0	0	0	1	0	0	0	12710	623	22	4	678	4	PSMB8	6	32810842	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	1077315	32810842	138304225	17	2664										
ZAN	7455	genome.wustl.edu	37	chr7	100349807	100349807	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gaaaaacccagcatccccacGgaaaaacccaccatctccat	4	17	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr7:100349807G>A	ENST00000348028.3	+	0	2244				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCATCCCCACGGAAAAACCCA	0.532																																																	0													180	203	196					7																	100349807		1874	4108	5982			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349807G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.T693	ENST00000348028.3	37	c.2079		7																																																																																			ZAN	-	NULL		0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100349807	1	no_errors	ENST00000546292	ensembl	human	known	70_37	silent	SNP	0.000	A	A	100349807	G	A	100349807	1	1	17	0	1	0	0	0	0	0	0	0	17544	1103	39	2		2	ZAN	7	100349807	RNA	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		100349807	58788856	18	2665										
FBXO25	26260	genome.wustl.edu	37	chr8	382894	382894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tttttattctaggtttttatCgtgaaaaatggatctatgtc	7	4	2	1	rs142717048	byFrequency	TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr8:382894C>T	ENST00000276326.5	+	4	366	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	FBXO25_ENST00000382824.1_Intron|FBXO25_ENST00000350302.3_Missense_Mutation_p.R83C|FBXO25_ENST00000352684.2_Intron	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	83	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AGGTTTTTATCGTGAAAAATG	0.259													C|||	3	0.000599042	0	0	5008	,	,		16996	0		0.002	False		,,,				2504	0.001																0								C	,CYS/ARG,CYS/ARG	0,4366		0,0,2183	30	30	30		,247,247	4.4	1	8	dbSNP_134	30	5,8523		0,5,4259	yes	intron,missense,missense	FBXO25	NM_012173.3,NM_183420.1,NM_183421.1	,180,180	0,5,6442	TT,TC,CC		0.0586,0.0,0.0388	,benign,benign	,83/359,83/368	382894	5,12889	2183	4264	6447	SO:0001583	missense	26260			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.247C>T	8.37:g.382894C>T	ENSP00000276326:p.Arg83Cys		Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.R83C	ENST00000276326.5	37	c.247	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	.	18.09	3.545700	0.65198	0.0	5.86E-4	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	T;T;T	0.22336	1.96;1.96;1.96	4.36	4.36	0.52297	.	0.227432	0.44097	D	0.000487	T	0.32285	0.0824	L	0.47716	1.5	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.55824	0.785;0.785	T	0.02632	-1.1131	10	0.41790	T	0.15	-19.681	14.7746	0.69713	0.0:1.0:0.0:0.0	.	83;83	Q8TCJ0-2;Q8TCJ0	.;FBX25_HUMAN	C	83	ENSP00000428872:R83C;ENSP00000342077:R83C;ENSP00000276326:R83C	ENSP00000276326:R83C	R	+	1	0	FBXO25	372894	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.084000	0.50143	2.158000	0.67659	0.449000	0.29647	CGT	FBXO25	-	NULL		0.259	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	C	NM_012173		382894	1	no_errors	ENST00000276326	ensembl	human	known	70_37	missense	SNP	1.000	T	T	382894	C	T	382894	3	4	17	1	0	0	0	0	1	0	0	0	5754	884	31	1	257	1	FBXO25	8	382894	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		382894	145981128	19	2666										
EIF3E	3646	genome.wustl.edu	37	chr8	109260902	109260902	+	De_novo_Start_OutOfFrame	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgccgatccaaaaagtgcgcGatgcgagtagtcaagtcgta	12	9	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr8:109260902G>C	ENST00000519030.1	-	0	25				EIF3E_ENST00000220849.5_Missense_Mutation_p.I10M					eukaryotic translation initiation factor 3, subunit E									p.I10I(2)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAAAGTGCGCGATGCGAGTAG	0.512																																					GBM(15;360 410 8460 34179 52246)												2	Substitution - coding silent(2)	NS(1)|breast(1)											94	85	88					8																	109260902		2203	4300	6503			3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000519030.1:c.-135C>G	8.37:g.109260902G>C				Missense_Mutation	SNP	pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk	p.I10M	ENST00000519030.1	37	c.30		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390334|3.390334	0.62066|0.62066	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519627|ENST00000521440	T;T|.	0.50277|.	0.75;0.81|.	5.28|5.28	3.5|3.5	0.40072|0.40072	Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.13043|0.13043	0.29|0.29	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32893|.	0.217;0.285;0.389|.	B;B;B|.	0.36030|.	0.12;0.06;0.216|.	T|T	0.10337|0.10337	-1.0634|-1.0634	10|5	0.18276|.	T|.	0.48|.	-12.5321|-12.5321	11.1886|11.1886	0.48671|0.48671	0.1486:0.0:0.8514:0.0|0.1486:0.0:0.8514:0.0	.|.	10;10;10|.	Q6IAX5;B2R806;P60228|.	.;.;EIF3E_HUMAN|.	M|W	10|9	ENSP00000220849:I10M;ENSP00000430839:I10M|.	ENSP00000220849:I10M|.	I|S	-|-	3|2	3|0	EIF3E|EIF3E	109330078|109330078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.784000|1.784000	0.38674|0.38674	0.809000|0.809000	0.34255|0.34255	0.655000|0.655000	0.94253|0.94253	ATC|TCG	EIF3E	-	pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk		0.512	EIF3E-002	PUTATIVE	basic	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380613.1	G	NM_001568		109260902	-1	no_errors	ENST00000220849	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109260902	G	C	109260902	1	2	17	1	0	1	0	0	0	0	0	0	5027	1048	37	1		1	EIF3E	8	109260902	De_novo_Start_OutOfFrame	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	108878008	109260902	37103120	20	2667										
COL22A1	169044	genome.wustl.edu	37	chr8	139749795	139749795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ccagcaatccagggattccaGgtggtcccatgtcacctttc	9	14	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr8:139749795G>T	ENST00000303045.6	-	23	2557	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P704H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	704	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGATTCCAGGTGGTCCCAT	0.453										HNSCC(7;0.00092)																																							0													95	93	94					8																	139749795		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2111C>A	8.37:g.139749795G>T	ENSP00000303153:p.Pro704His		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P704H	ENST00000303045.6	37	c.2111	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579890	0.46006	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97772	-4.53;-4.53	3.16	3.16	0.36331	.	0.156761	0.29551	U	0.011837	D	0.98112	0.9377	M	0.94142	3.5	0.09310	N	0.999999	P;P	0.44344	0.8;0.833	B;P	0.47891	0.424;0.56	D	0.94718	0.7898	10	0.72032	D	0.01	.	10.0758	0.42360	0.0:0.0:1.0:0.0	.	704;704	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	704;704;417	ENSP00000303153:P704H;ENSP00000387655:P704H	ENSP00000303153:P704H	P	-	2	0	COL22A1	139818977	0.967000	0.33354	0.060000	0.19600	0.889000	0.51656	3.661000	0.54503	2.074000	0.62210	0.561000	0.74099	CCT	COL22A1	-	NULL		0.453	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	G	XM_291257		139749795	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.065	T	T	139749795	G	T	139749795	3	4	17	1	0	0	0	0	1	0	0	0	3686	1000	35	4	2941	4	COL22A1	8	139749795	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	30488893	139749795	6614227	21	2668										
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69420382	69420382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	caaagaaagattgggaaaacGtatcctcagcaatttcccaa	7	9	1	2	rs367900024		TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr9:69420382G>A	ENST00000357336.3	+	13	1553	c.1272G>A	c.(1270-1272)acG>acA	p.T424T		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	424										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TTGGGAAAACGTATCCTCAGC	0.348																																																	0													97	146	128					9																	69420382		1331	2288	3619	SO:0001819	synonymous_variant	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1272G>A	9.37:g.69420382G>A				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T424	ENST00000357336.3	37	c.1272	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL		0.348	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	G	NM_001098805		69420382	1	no_errors	ENST00000357336	ensembl	human	known	70_37	silent	SNP	0.000	A	A	69420382	G	A	69420382	2	1	17	1	0	0	0	0	0	0	0	1	650	1132	40	2		2	ANKRD20A4	9	69420382	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		69420382	71793049	22	2669										
MSRB2	22921	genome.wustl.edu	37	chr10	23384576	23384576	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ttgctccggggcctgaccctCggaactgcgcctcggcgggc	15	16	0	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr10:23384576C>T	ENST00000376510.3	+	1	142	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	13					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GCCTGACCCTCGGAACTGCGC	0.791																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)												0													2	4	3					10																	23384576		1171	2786	3957	SO:0001819	synonymous_variant	22921			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.39C>T	10.37:g.23384576C>T			Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB	p.L13	ENST00000376510.3	37	c.39	CCDS41495.1	10																																																																																			MSRB2	-	NULL		0.791	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB2	HGNC	protein_coding	OTTHUMT00000047205.1	C	NM_012228		23384576	1	no_errors	ENST00000376510	ensembl	human	known	70_37	silent	SNP	0.001	T	T	23384576	C	T	23384576	2	4	17	1	0	0	0	0	0	0	0	1	9911	871	31	1		1	MSRB2	10	23384576	Silent	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		23384576	112150171	23	2670										
ERCC6	2074	genome.wustl.edu	37	chr10	50732789	50732789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	caggcagtctcctggacaggCatgagcatgctgccaagact	12	12	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr10:50732789C>T	ENST00000355832.5	-	5	765	c.687G>A	c.(685-687)atG>atA	p.M229I	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.M229I|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.M229I|PGBD3_ENST00000603152.1_Missense_Mutation_p.M229I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	229					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTGGACAGGCATGAGCATGC	0.507								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													46	48	48					10																	50732789		2200	4293	6493	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.687G>A	10.37:g.50732789C>T	ENSP00000348089:p.Met229Ile		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M229I	ENST00000355832.5	37	c.687	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.590470	0.96590	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.83591	-1.74;3.12;3.12	6.03	6.03	0.97812	.	.	.	.	.	D	0.90662	0.7071	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	D	0.89845	0.4005	9	0.51188	T	0.08	-39.3577	18.7472	0.91797	0.0:1.0:0.0:0.0	.	229;229	E7EV46;Q03468	.;ERCC6_HUMAN	I	229	ENSP00000348089:M229I;ENSP00000423550:M229I;ENSP00000387966:M229I	ENSP00000348089:M229I	M	-	3	0	ERCC6;RP11-123B3.6	50402795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	ATG	ERCC6	-	NULL		0.507	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	C	NM_000124		50732789	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50732789	C	T	50732789	3	4	17	1	0	0	0	0	1	0	0	0	5229	710	25	4	3862	4	ERCC6	10	50732789	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	27348213	50732789	84801958	24	2671										
DNMBP	23268	genome.wustl.edu	37	chr10	101715391	101715391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggataccggagtacagggacGaggtggcggtggccttaggg	20	7	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr10:101715391G>A	ENST00000324109.4	-	4	1931	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	DNMBP_ENST00000342239.3_Missense_Mutation_p.R614C|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	614	Pro-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTACAGGGACGAGGTGGCGGT	0.562																																																	0													59	54	56					10																	101715391		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1840C>T	10.37:g.101715391G>A	ENSP00000315659:p.Arg614Cys		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.R614C	ENST00000324109.4	37	c.1840	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821977	0.71028	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.20881	2.11;2.04	6.04	3.92	0.45320	.	0.000000	0.48767	D	0.000178	T	0.46386	0.1390	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52193	-0.8608	10	0.72032	D	0.01	-12.826	14.5409	0.67995	0.0:0.0:0.6749:0.3251	.	614	Q6XZF7	DNMBP_HUMAN	C	614	ENSP00000344914:R614C;ENSP00000315659:R614C	ENSP00000315659:R614C	R	-	1	0	DNMBP	101705381	1.000000	0.71417	0.990000	0.47175	0.514000	0.34195	3.916000	0.56416	1.347000	0.45714	0.561000	0.74099	CGT	DNMBP	-	NULL		0.562	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101715391	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101715391	G	A	101715391	3	1	17	1	0	0	0	0	1	0	0	0	4684	1058	37	1	2949	1	DNMBP	10	101715391	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	50982602	101715391	33819356	25	2672										
CNNM2	54805	genome.wustl.edu	37	chr10	104679252	104679252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tcctgctcgacgacatcgccGgctcgggcctcgtggccgtg	14	16	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr10:104679252G>A	ENST00000369878.4	+	1	1203	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	CNNM2_ENST00000369875.3_Missense_Mutation_p.G339S|CNNM2_ENST00000433628.2_Missense_Mutation_p.G339S	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	339	DUF21.				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)			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)		CGACATCGCCGGCTCGGGCCT	0.657																																																	0													66	59	62					10																	104679252		2203	4299	6502	SO:0001583	missense	54805			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.1015G>A	10.37:g.104679252G>A	ENSP00000358894:p.Gly339Ser		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.G339S	ENST00000369878.4	37	c.1015	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927473	0.73327	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.87809	-2.3;-2.3;-2.3	4.32	4.32	0.51571	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	L	0.49699	1.58	0.80722	D	1	P;P;D	0.89917	0.709;0.9;1.0	B;P;D	0.76575	0.159;0.678;0.988	D	0.92575	0.6069	10	0.72032	D	0.01	.	16.7981	0.85607	0.0:0.0:1.0:0.0	.	339;339;339	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	S	339	ENSP00000392875:G339S;ENSP00000358891:G339S;ENSP00000358894:G339S	ENSP00000286899:G339S	G	+	1	0	CNNM2	104669242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	1.935000	0.56089	0.561000	0.74099	GGC	CNNM2	-	pfam_DUF21		0.657	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	G	NM_017649		104679252	1	no_errors	ENST00000457502	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104679252	G	A	104679252	3	1	17	1	0	0	0	0	1	0	0	0	3618	1116	39	2	1017	2	CNNM2	10	104679252	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	2963861	104679252	30855495	26	2673										
BBOX1	8424	genome.wustl.edu	37	chr11	27136998	27136998	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgtgtttcttgcattttacaGacatacttggcaagtgcaag	9	7	1	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr11:27136998G>C	ENST00000529202.1	+	5	872		c.e5-1		RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Splice_Site|BBOX1_ENST00000527505.1_Splice_Site|BBOX1_ENST00000525090.1_Splice_Site|BBOX1_ENST00000528583.1_Splice_Site			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1						carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCATTTTACAGACATACTTGG	0.393																																																	0													110	94	99					11																	27136998		2202	4298	6500	SO:0001630	splice_region_variant	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.534-1G>C	11.37:g.27136998G>C			B2R8L7|D3DQZ1|Q6IBJ2	Splice_Site	SNP	-	e4-1	ENST00000529202.1	37	c.534-1	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230405	0.79688	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4422	0.87568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBOX1	27093574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.064000	0.93933	2.457000	0.83068	0.655000	0.94253	.	BBOX1	-	-		0.393	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	G	NM_003986	Intron	27136998	1	no_errors	ENST00000263182	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	27136998	G	C	27136998	5	2	17	1	0	0	0	0	0	0	1	0	1335	956	33	1	547	1	BBOX1	11	27136998	Splice_Site	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		27136998	107869518	27	2674			1	12		3	3	78	G		1.582623e-08
BBOX1	8424	genome.wustl.edu	37	chr11	27137027	27137027	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggcaagtgcaagacaaaatcGatgcaaacaatgtggcttac	10	8	0	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr11:27137027G>C	ENST00000529202.1	+	5	901	c.562G>C	c.(562-564)Gat>Cat	p.D188H	RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.D188H|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Missense_Mutation_p.D188H|BBOX1_ENST00000528583.1_Missense_Mutation_p.D188H			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	188					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGACAAAATCGATGCAAACAA	0.403																																																	0													139	120	127					11																	27137027		2202	4298	6500	SO:0001583	missense	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.562G>C	11.37:g.27137027G>C	ENSP00000435781:p.Asp188His		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.D188H	ENST00000529202.1	37	c.562	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336635	0.41398	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.27	3.41	0.39046	.	0.108343	0.64402	D	0.000001	T	0.79678	0.4487	L	0.59436	1.845	0.48135	D	0.999599	B	0.31435	0.323	B	0.34093	0.175	T	0.76716	-0.2857	10	0.66056	D	0.02	.	10.3078	0.43691	0.1614:0.0:0.8386:0.0	.	188	O75936	BODG_HUMAN	H	188	ENSP00000435781:D188H;ENSP00000263182:D188H;ENSP00000434918:D188H;ENSP00000433772:D188H	ENSP00000263182:D188H	D	+	1	0	BBOX1	27093603	1.000000	0.71417	0.679000	0.29978	0.982000	0.71751	4.066000	0.57520	0.614000	0.30107	0.655000	0.94253	GAT	BBOX1	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.403	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	G	NM_003986		27137027	1	no_errors	ENST00000263182	ensembl	human	known	70_37	missense	SNP	0.920	C	C	27137027	G	C	27137027	3	2	17	1	0	0	0	0	1	0	0	0	1335	1058	37	1	576	1	BBOX1	11	27137027	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	29	27137027	107869489	28	2675			1	12		3	3	78	G		1.582623e-08
BBOX1	8424	genome.wustl.edu	37	chr11	27137075	27137075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggaagctaagctttcacactGattatccagccctccatcat	6	13	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr11:27137075G>A	ENST00000529202.1	+	5	949	c.610G>A	c.(610-612)Gat>Aat	p.D204N	RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.D204N|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Missense_Mutation_p.D204N|BBOX1_ENST00000528583.1_Missense_Mutation_p.D204N			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	204					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTTTCACACTGATTATCCAGC	0.408																																																	0													133	118	123					11																	27137075		2202	4299	6501	SO:0001583	missense	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.610G>A	11.37:g.27137075G>A	ENSP00000435781:p.Asp204Asn		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.D204N	ENST00000529202.1	37	c.610	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634204	0.87660	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.37	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98442	1.0587	10	0.87932	D	0	.	14.0747	0.64882	0.0:0.0:0.848:0.152	.	204	O75936	BODG_HUMAN	N	204	ENSP00000435781:D204N;ENSP00000263182:D204N;ENSP00000434918:D204N;ENSP00000433772:D204N	ENSP00000263182:D204N	D	+	1	0	BBOX1	27093651	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.064000	0.93933	1.230000	0.43646	0.655000	0.94253	GAT	BBOX1	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.408	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	G	NM_003986		27137075	1	no_errors	ENST00000263182	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27137075	G	A	27137075	3	1	17	1	0	0	0	0	1	0	0	0	1335	1290	45	1	624	1	BBOX1	11	27137075	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	48	27137075	107869441	29	2676			1	12		3	3	78	G		1.582623e-08
BBOX1	8424	genome.wustl.edu	37	chr11	27147341	27147341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cctcatgaacagcaaagaatCcaagtttaccttcaagatga	6	10	2	4			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr11:27147341C>G	ENST00000529202.1	+	7	1316	c.977C>G	c.(976-978)tCc>tGc	p.S326C	RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.S326C|BBOX1_ENST00000525090.1_Missense_Mutation_p.S326C|BBOX1_ENST00000528583.1_Missense_Mutation_p.S326C			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	326					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGCAAAGAATCCAAGTTTACC	0.378																																																	0													102	89	94					11																	27147341		2202	4299	6501	SO:0001583	missense	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.977C>G	11.37:g.27147341C>G	ENSP00000435781:p.Ser326Cys		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.S326C	ENST00000529202.1	37	c.977	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557682	0.65425	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	6.03	-9.24	0.00669	.	0.945817	0.08903	N	0.876913	T	0.74527	0.3728	N	0.14661	0.345	0.22571	N	0.99898	D	0.64830	0.994	P	0.60682	0.878	T	0.68557	-0.5377	10	0.40728	T	0.16	.	7.8315	0.29344	0.6133:0.2308:0.0:0.1559	.	326	O75936	BODG_HUMAN	C	326	ENSP00000435781:S326C;ENSP00000263182:S326C;ENSP00000434918:S326C;ENSP00000433772:S326C	ENSP00000263182:S326C	S	+	2	0	BBOX1	27103917	0.038000	0.19896	0.861000	0.33841	0.979000	0.70002	0.072000	0.14617	-0.972000	0.03559	-0.345000	0.07892	TCC	BBOX1	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.378	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	C	NM_003986		27147341	1	no_errors	ENST00000263182	ensembl	human	known	70_37	missense	SNP	0.575	G	G	27147341	C	G	27147341	3	3	17	1	0	0	0	0	1	0	0	0	1335	855	30	1	999	1	BBOX1	11	27147341	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	10266	27147341	107859175	30	2677										
DSCAML1	57453	genome.wustl.edu	37	chr11	117351190	117351190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgtattcaatgtcgaagcccGtgatgatgctgttcccgtcg	11	10	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr11:117351190G>A	ENST00000321322.6	-	14	2934	c.2933C>T	c.(2932-2934)aCg>aTg	p.T978M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T708M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	918	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCGAAGCCCGTGATGATGCT	0.627																																																	0													75	78	77					11																	117351190		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2933C>T	11.37:g.117351190G>A	ENSP00000315465:p.Thr978Met		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T978M	ENST00000321322.6	37	c.2933	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624792	0.87560	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60171	0.21;0.21	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80644	0.4662	M	0.92459	3.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.68353	0.957	D	0.85897	0.1432	9	0.59425	D	0.04	.	16.5365	0.84373	0.0:0.0:1.0:0.0	.	918	Q8TD84	DSCL1_HUMAN	M	708;978;685	ENSP00000434335:T708M;ENSP00000315465:T978M	ENSP00000315465:T978M	T	-	2	0	DSCAML1	116856400	1.000000	0.71417	0.985000	0.45067	0.863000	0.49368	9.517000	0.98020	2.231000	0.72958	0.485000	0.47835	ACG	DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117351190	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117351190	G	A	117351190	3	1	17	1	0	0	0	0	1	0	0	0	4779	1145	40	2	3488	2	DSCAML1	11	117351190	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	90203849	117351190	17655326	31	2678										
GXYLT1	283464	genome.wustl.edu	37	chr12	42499642	42499642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgaaatacttccttctcattCgagtcatgttcatcaacata	4	10	4	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr12:42499642C>T	ENST00000398675.3	-	5	1074	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R250Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	281					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CCTTCTCATTCGAGTCATGTT	0.323																																																	0													71	66	67					12																	42499642		1834	4090	5924	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.842G>A	12.37:g.42499642C>T	ENSP00000381666:p.Arg281Gln		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R281Q	ENST00000398675.3	37	c.842	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.773694	0.96922	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.23754	1.89;1.89	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68762	-0.5323	10	0.66056	D	0.02	-16.1546	20.6397	0.99537	0.0:1.0:0.0:0.0	.	250;281	Q4G148-2;Q4G148	.;GXLT1_HUMAN	Q	281;250	ENSP00000381666:R281Q;ENSP00000280876:R250Q	ENSP00000280876:R250Q	R	-	2	0	GXYLT1	40785909	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.770000	0.85390	2.880000	0.98712	0.650000	0.86243	CGA	GXYLT1	-	pfam_Glyco_trans_8		0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	C	XM_290597		42499642	-1	no_errors	ENST00000398675	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42499642	C	T	42499642	3	4	17	1	0	0	0	0	1	0	0	0	6923	884	31	1	496	1	GXYLT1	12	42499642	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		42499642	91352253	32	2679										
PPTC7	160760	genome.wustl.edu	37	chr12	110983707	110983707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gtcgctcaagacgactccctCggcttcagggggagcgattg	14	12	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr12:110983707C>T	ENST00000354300.3	-	3	868	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	194	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						ACGACTCCCTCGGCTTCAGGG	0.557																																																	0													110	100	103					12																	110983707		2203	4300	6503	SO:0001583	missense	160760			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"T cell activation protein phosphatase 2C"	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.580G>A	12.37:g.110983707C>T	ENSP00000346255:p.Glu194Lys		B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E194K	ENST00000354300.3	37	c.580	CCDS9149.1	12	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433612	0.43224	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.98	5.98	0.97165	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	L	0.33245	0.995	0.80722	D	1	B	0.32203	0.36	B	0.26416	0.069	T	0.43180	-0.9407	9	0.06891	T	0.86	-21.1128	20.452	0.99131	0.0:1.0:0.0:0.0	.	194	Q8NI37	PPTC7_HUMAN	K	194	.	ENSP00000346255:E194K	E	-	1	0	PPTC7	109468090	1.000000	0.71417	0.929000	0.37066	0.797000	0.45037	7.810000	0.86072	2.838000	0.97847	0.591000	0.81541	GAG	PPTC7	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.557	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPTC7	HGNC	protein_coding	OTTHUMT00000404635.1	C	NM_139283		110983707	-1	no_errors	ENST00000354300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110983707	C	T	110983707	3	4	17	1	0	0	0	0	1	0	0	0	12440	893	31	1	350	1	PPTC7	12	110983707	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	68484065	110983707	22868188	33	2680										
COG3	83548	genome.wustl.edu	37	chr13	46070407	46070407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cacgggctataaaccagctcCtggagatctggcatatcccg	10	13	1	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr13:46070407C>T	ENST00000349995.5	+	13	1560	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	483					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AAACCAGCTCCTGGAGATCTG	0.478																																					Ovarian(150;1048 1859 18083 21577 42700)												0													62	57	59					13																	46070407		2203	4300	6503	SO:0001583	missense	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1448C>T	13.37:g.46070407C>T	ENSP00000258654:p.Pro483Leu		B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	pfam_COG_su3,superfamily_Cullin_repeat-like_dom	p.P483L	ENST00000349995.5	37	c.1448	CCDS9398.1	13	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362517	0.82353	.	.	ENSG00000136152	ENST00000349995	T	0.50548	0.74	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.77486	2.375	0.80722	D	1	B;D	0.89917	0.194;1.0	B;D	0.83275	0.157;0.996	T	0.71347	-0.4620	10	0.54805	T	0.06	-13.2366	19.4443	0.94840	0.0:1.0:0.0:0.0	.	320;483	B4E2F3;Q96JB2	.;COG3_HUMAN	L	483	ENSP00000258654:P483L	ENSP00000258654:P483L	P	+	2	0	COG3	44968408	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	6.096000	0.71446	2.847000	0.97988	0.591000	0.81541	CCT	COG3	-	NULL		0.478	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG3	HGNC	protein_coding	OTTHUMT00000044777.2	C			46070407	1	no_errors	ENST00000349995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46070407	C	T	46070407	3	4	17	1	0	0	0	0	1	0	0	0	3664	681	24	4	1498	4	COG3	13	46070407	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		46070407	69099471	34	2681										
MYCBP2	23077	genome.wustl.edu	37	chr13	77834572	77834572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tattaacttacttgaactatCagagtaaatggcatcttttc	5	7	2	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr13:77834572C>T	ENST00000544440.2	-	13	1911	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	MYCBP2_ENST00000407578.2_Missense_Mutation_p.D670N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D632N					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTGAACTATCAGAGTAAATG	0.303																																																	0													80	79	79					13																	77834572		2202	4295	6497	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1894G>A	13.37:g.77834572C>T	ENSP00000444596:p.Asp632Asn			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D670N	ENST00000544440.2	37	c.2008		13	.	.	.	.	.	.	.	.	.	.	C	32	5.159599	0.94686	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.80214	-1.35;-1.35;-1.35	5.7	5.7	0.88788	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.87504	0.2435	10	0.66056	D	0.02	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	632	O75592	MYCB2_HUMAN	N	632;670;632	ENSP00000349892:D632N;ENSP00000384288:D670N;ENSP00000444596:D632N	ENSP00000349892:D632N	D	-	1	0	MYCBP2	76732573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.677000	0.91161	0.650000	0.86243	GAT	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold		0.303	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77834572	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77834572	C	T	77834572	3	4	17	1	0	0	0	0	1	0	0	0	10041	826	29	1	12312	1	MYCBP2	13	77834572	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	31764165	77834572	37335306	35	2682										
RASA3	22821	genome.wustl.edu	37	chr13	114806481	114806481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cgccgagagtctcacctgcaCttccgagtcagcgtccacgt	10	16	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr13:114806481C>T	ENST00000334062.7	-	4	488	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	RASA3_ENST00000542651.1_Intron|RASA3_ENST00000389544.4_Missense_Mutation_p.V91M	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	123					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCACCTGCACTTCCGAGTCA	0.612																																																	0													206	168	181					13																	114806481		2203	4300	6503	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.367G>A	13.37:g.114806481C>T	ENSP00000335029:p.Val123Met		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.V123M	ENST00000334062.7	37	c.367	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823578	0.71143	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.72615	-0.67;-0.67	5.12	5.12	0.69794	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.84814	0.0792	9	.	.	.	.	17.347	0.87312	0.0:1.0:0.0:0.0	.	123	Q14644	RASA3_HUMAN	M	123;91	ENSP00000335029:V123M;ENSP00000374195:V91M	.	V	-	1	0	RASA3	113824583	1.000000	0.71417	0.943000	0.38184	0.302000	0.27658	6.377000	0.73145	2.388000	0.81334	0.563000	0.77884	GTG	RASA3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.612	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	C	NM_007368		114806481	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114806481	C	T	114806481	3	4	17	1	0	0	0	0	1	0	0	0	13092	565	20	4	2221	4	RASA3	13	114806481	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	36971909	114806481	363397	36	2683										
CHD8	57680	genome.wustl.edu	37	chr14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	atttttttcgcttaacttggCggtttgagcgtctcttctgt	9	8	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr14:21884050C>T	ENST00000557364.1	-	6	1996	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H|CHD8_ENST00000399982.2_Missense_Mutation_p.R578H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	578					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.R578H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											189	178	182					14																	21884050		1836	4082	5918	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1733G>A	14.37:g.21884050C>T	ENSP00000451601:p.Arg578His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R578H	ENST00000557364.1	37	c.1733	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928726	0.92389	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.67698	-0.28;-0.28;-0.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82623	-0.0366	10	0.87932	D	0	-8.1484	17.3917	0.87434	0.0:1.0:0.0:0.0	.	299	Q9HCK8-2	.	H	299;578;298;578	ENSP00000406288:R299H;ENSP00000382863:R578H;ENSP00000451601:R578H	ENSP00000262707:R298H	R	-	2	0	CHD8	20953890	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.260000	0.78391	2.636000	0.89361	0.655000	0.94253	CGC	CHD8	-	NULL		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21884050	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21884050	C	T	21884050	3	4	17	1	0	0	0	0	1	0	0	0	3336	768	27	2	6144	2	CHD8	14	21884050	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		21884050	85465490	37	2684										
C14orf166B	145497	genome.wustl.edu	37	chr14	77319573	77319573	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ctggagggtaatgtgaccctGacaaagctggatctctccat	11	10	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr14:77319573G>A	ENST00000393774.3	+	9	952	c.828G>A	c.(826-828)ctG>ctA	p.L276L	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ATGTGACCCTGACAAAGCTGG	0.552																																					Ovarian(165;1056 1958 32571 36789 48728)												0													153	139	144					14																	77319573		2203	4300	6503	SO:0001819	synonymous_variant	145497																														ENST00000393774.3:c.828G>A	14.37:g.77319573G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L276	ENST00000393774.3	37	c.828	CCDS9853.2	14																																																																																			C14orf166B	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.552	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	HGNC	protein_coding	OTTHUMT00000316592.1	G			77319573	1	no_errors	ENST00000393774	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77319573	G	A	77319573	2	1	17	1	0	0	0	0	0	0	0	1	1761	1277	45	1		1	C14orf166B	14	77319573	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	55435523	77319573	30029967	38	2685										
ATP10A	57194	genome.wustl.edu	37	chr15	25972339	25972339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	caatgccgacgactgcgtccGtgttcctaagggtgcagccc	12	14	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr15:25972339G>A	ENST00000356865.6	-	4	926	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	272					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACTGCGTCCGTGTTCCTAAG	0.582																																																	0													158	121	134					15																	25972339		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.815C>T	15.37:g.25972339G>A	ENSP00000349325:p.Thr272Met		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T272M	ENST00000356865.6	37	c.815	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054750	0.75960	.	.	ENSG00000206190	ENST00000356865	D	0.90732	-2.72	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99804	1.1037	10	0.87932	D	0	-22.8785	19.0349	0.92972	0.0:0.0:1.0:0.0	.	272	O60312	AT10A_HUMAN	M	272	ENSP00000349325:T272M	ENSP00000349325:T272M	T	-	2	0	ATP10A	23523432	1.000000	0.71417	0.954000	0.39281	0.329000	0.28539	9.091000	0.94151	2.513000	0.84729	0.563000	0.77884	ACG	ATP10A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.582	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25972339	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25972339	G	A	25972339	3	1	17	1	0	0	0	0	1	0	0	0	1117	1145	40	2	3756	2	ATP10A	15	25972339	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		25972339	76559053	39	2686										
IGDCC3	9543	genome.wustl.edu	37	chr15	65628166	65628166	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tcacctctcattgtccgtgtCaattgggactctgttcttct	7	12	6	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr15:65628166C>G	ENST00000327987.4	-	3	789	c.538G>C	c.(538-540)Gac>Cac	p.D180H	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	180	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGTCCGTGTCAATTGGGACT	0.597																																																	0													176	163	168					15																	65628166		2201	4299	6500	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.538G>C	15.37:g.65628166C>G	ENSP00000332773:p.Asp180His		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D180H	ENST00000327987.4	37	c.538	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473527	0.63737	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66995	-0.24	5.06	5.06	0.68205	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.199260	0.44097	D	0.000488	T	0.71693	0.3370	L	0.37897	1.145	0.49582	D	0.999801	D	0.59767	0.986	D	0.69307	0.963	T	0.72187	-0.4366	10	0.49607	T	0.09	-29.5445	11.4889	0.50369	0.0:0.9127:0.0:0.0873	.	180	Q8IVU1	IGDC3_HUMAN	H	180;43	ENSP00000332773:D180H	ENSP00000332773:D180H	D	-	1	0	IGDCC3	63415219	0.991000	0.36638	0.993000	0.49108	0.925000	0.55904	2.335000	0.43929	2.340000	0.79590	0.655000	0.94253	GAC	IGDCC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	C	NM_004884		65628166	-1	no_errors	ENST00000327987	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65628166	C	G	65628166	3	3	17	1	0	0	0	0	1	0	0	0	7588	826	29	1	1954	1	IGDCC3	15	65628166	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	39655827	65628166	36903226	40	2687										
SGK269	79834	genome.wustl.edu	37	chr15	77472802	77472802	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gggctgttaacagggccctcGaggtgctcactggccatggc	15	12	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr15:77472802G>A	ENST00000560626.2	-	4	1942	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	PEAK1_ENST00000312493.4_Silent_p.L489L|PEAK1_ENST00000558305.1_Silent_p.L489L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	489					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L489L(2)									CAGGGCCCTCGAGGTGCTCAC	0.488																																																	2	Substitution - coding silent(2)	large_intestine(2)											137	129	132					15																	77472802		2007	4171	6178	SO:0001819	synonymous_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1467C>T	15.37:g.77472802G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.L489	ENST00000560626.2	37	c.1467	CCDS42062.1	15																																																																																			PEAK1	-	NULL		0.488	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	G			77472802	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	silent	SNP	0.003	A	A	77472802	G	A	77472802	2	1	17	1	0	0	0	0	0	0	0	1	14241	1045	37	1		1	SGK269	15	77472802	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	11844636	77472802	25058590	41	2688										
BFAR	51283	genome.wustl.edu	37	chr16	14749014	14749014	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gagccatcctcatggagctaGaacgtgtcaaagcattaggc	11	10	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr16:14749014G>C	ENST00000261658.2	+	5	1007	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	BFAR_ENST00000563971.1_Missense_Mutation_p.E119Q|BFAR_ENST00000426842.2_Missense_Mutation_p.E116Q	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	244	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CATGGAGCTAGAACGTGTCAA	0.388																																																	0													74	82	79					16																	14749014		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.730G>C	16.37:g.14749014G>C	ENSP00000261658:p.Glu244Gln		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E244Q	ENST00000261658.2	37	c.730	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845940	0.51164	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.45276	0.9;0.9	5.31	5.31	0.75309	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.193526	0.47852	D	0.000202	T	0.57140	0.2033	L	0.52364	1.645	0.43756	D	0.996269	P;D;D	0.60160	0.761;0.987;0.984	B;P;P	0.61592	0.243;0.891;0.855	T	0.55903	-0.8067	10	0.48119	T	0.1	.	17.9483	0.89045	0.0:0.0:1.0:0.0	.	116;244;244	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	Q	244;116	ENSP00000261658:E244Q;ENSP00000400634:E116Q	ENSP00000261658:E244Q	E	+	1	0	BFAR	14656515	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	5.291000	0.65667	2.480000	0.83734	0.313000	0.20887	GAA	BFAR	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.388	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	G	NM_016561		14749014	1	no_errors	ENST00000261658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14749014	G	C	14749014	3	2	17	1	0	0	0	0	1	0	0	0	1415	943	33	1	744	1	BFAR	16	14749014	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		14749014	75605739	42	2689										
ZNF232	7775	genome.wustl.edu	37	chr17	5009279	5009279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tttgactaaaggccttcccaCactcattacactcatagggc	6	13	2	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:5009279C>A	ENST00000250076.3	-	5	1829	c.1175G>T	c.(1174-1176)tGt>tTt	p.C392F	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.C383F	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	365					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GGCCTTCCCACACTCATTACA	0.433																																																	0													86	88	87					17																	5009279		2203	4300	6503	SO:0001583	missense	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1175G>T	17.37:g.5009279C>A	ENSP00000250076:p.Cys392Phe			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C392F	ENST00000250076.3	37	c.1175	CCDS11068.1	17	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754154	0.49362	.	.	ENSG00000167840	ENST00000250076	D	0.85861	-2.04	2.84	2.84	0.33178	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35124	N	0.003435	D	0.92870	0.7732	H	0.96015	3.755	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.68192	0.956;0.926	D	0.92147	0.5725	10	0.87932	D	0	.	5.8183	0.18514	0.0:0.8555:0.0:0.1445	.	365;356	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	F	392	ENSP00000250076:C392F	ENSP00000250076:C392F	C	-	2	0	ZNF232	4950003	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	2.709000	0.47160	1.872000	0.54250	0.655000	0.94253	TGT	ZNF232	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	HGNC	protein_coding	OTTHUMT00000216915.1	C	NM_014519		5009279	-1	no_errors	ENST00000250076	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5009279	C	A	5009279	3	1	17	1	0	0	0	0	1	0	0	0	17815	478	17	4	163	4	ZNF232	17	5009279	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		5009279	76185931	43	2690										
POLR2A	5430	genome.wustl.edu	37	chr17	7406712	7406712	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cccctctctcaggtcgtcctCccctgtaacctgctgcggat	8	18	2	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:7406712C>G	ENST00000322644.6	+	18	3336	c.2937C>G	c.(2935-2937)ctC>ctG	p.L979L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	979					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGGTCGTCCTCCCCTGTAACC	0.582																																																	0													97	85	89					17																	7406712		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2937C>G	17.37:g.7406712C>G			A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.L979	ENST00000322644.6	37	c.2937	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7406712	1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.667	G	G	7406712	C	G	7406712	2	3	17	1	0	0	0	0	0	0	0	1	12238	842	30	1		1	POLR2A	17	7406712	Silent	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	2397433	7406712	73788498	44	2691										
MYH8	4626	genome.wustl.edu	37	chr17	10304411	10304411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgtcattttccatatccattGtggattcttgggccaatttg	8	8	2	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:10304411G>T	ENST00000403437.2	-	25	3300	c.3206C>A	c.(3205-3207)aCa>aAa	p.T1069K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1069					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATATCCATTGTGGATTCTTG	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													141	130	134					17																	10304411		2203	4299	6502	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3206C>A	17.37:g.10304411G>T	ENSP00000384330:p.Thr1069Lys		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1069K	ENST00000403437.2	37	c.3206	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141311	0.37825	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89196	-2.48	5.49	3.41	0.39046	.	0.380247	0.19148	U	0.121526	T	0.81064	0.4745	N	0.19112	0.55	0.27004	N	0.964852	B	0.17852	0.024	B	0.20955	0.032	T	0.73506	-0.3961	10	0.87932	D	0	.	10.9979	0.47587	0.2155:0.0:0.7845:0.0	.	1069	P13535	MYH8_HUMAN	K	1069	ENSP00000384330:T1069K	ENSP00000252173:T1069K	T	-	2	0	MYH8	10245136	0.243000	0.23878	1.000000	0.80357	0.998000	0.95712	1.271000	0.33098	0.798000	0.33994	0.655000	0.94253	ACA	MYH8	-	NULL		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10304411	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10304411	G	T	10304411	3	4	17	1	0	0	0	0	1	0	0	0	10064	1377	48	4	2671	4	MYH8	17	10304411	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	2897699	10304411	70890799	45	2692										
DNAH9	1770	genome.wustl.edu	37	chr17	11511460	11511460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ttccaggttgttctacccgtCctggccaatgagaagaatcg	10	11	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:11511460C>T	ENST00000262442.4	+	2	500	c.432C>T	c.(430-432)gtC>gtT	p.V144V	DNAH9_ENST00000454412.2_Silent_p.V144V|DNAH9_ENST00000579828.1_Silent_p.V144V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	144	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCTACCCGTCCTGGCCAATG	0.483																																																	0													140	138	139					17																	11511460		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.432C>T	17.37:g.11511460C>T			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V144	ENST00000262442.4	37	c.432	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11511460	1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	0.940	T	T	11511460	C	T	11511460	2	4	17	1	0	0	0	0	0	0	0	1	4618	842	30	1		1	DNAH9	17	11511460	Silent	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	1207049	11511460	69683750	46	2693										
SARM1	23098	genome.wustl.edu	37	chr17	26715280	26715280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cagctaccgccggaactcagGttcccagctggccaggtgag	13	14	1	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:26715280G>C	ENST00000457710.3	+	6	2087	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	573	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CGGAACTCAGGTTCCCAGCTG	0.617																																																	0													29	24	26					17																	26715280		2174	4234	6408	SO:0001583	missense	23098			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1616G>C	17.37:g.26715280G>C	ENSP00000406738:p.Gly539Ala		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.G539A	ENST00000457710.3	37	c.1616		17	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996748	0.93167	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.24	5.24	0.73138	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.81967	-0.0690	8	0.87932	D	0	-29.7548	16.7747	0.85548	0.0:0.0:1.0:0.0	.	573	Q6SZW1	SARM1_HUMAN	A	571;539	.	ENSP00000003834:G539A	G	+	2	0	SARM1	23739407	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.625000	0.98406	2.726000	0.93360	0.655000	0.94253	GGT	SARM1	-	superfamily_TIR_dom,smart_TIR_dom		0.617	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	G	NM_015077		26715280	1	no_errors	ENST00000457710	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	26715280	G	C	26715280	3	2	17	1	0	0	0	0	1	0	0	0	13872	1261	44	4	1738	4	SARM1	17	26715280	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	15203820	26715280	54479930	47	2694										
CCDC45	90799	genome.wustl.edu	37	chr17	62529078	62529078	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gcacaggttgaacagcttaaGaaagaagcatgtagagaaaa	11	5	0	4			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:62529078G>A	ENST00000556440.2	+	15	2304	c.1794G>A	c.(1792-1794)aaG>aaA	p.K598K	CEP95_ENST00000553412.1_Silent_p.K434K|AC009994.2_ENST00000579926.1_RNA	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	598						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AACAGCTTAAGAAAGAAGCAT	0.393																																																	0													83	74	76					17																	62529078		1848	4097	5945	SO:0001819	synonymous_variant	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1794G>A	17.37:g.62529078G>A			B4DMD2|Q96M81	Silent	SNP	superfamily_CH-domain	p.K598	ENST00000556440.2	37	c.1794	CCDS45763.1	17																																																																																			CEP95	-	NULL		0.393	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62529078	1	no_errors	ENST00000556440	ensembl	human	known	70_37	silent	SNP	0.004	A	A	62529078	G	A	62529078	2	1	17	1	0	0	0	0	0	0	0	1	2821	933	33	1		1	CCDC45	17	62529078	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	35813798	62529078	18666132	48	2695										
AXIN2	8313	genome.wustl.edu	37	chr17	63554353	63554353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tgtagatcgctttggctactCgtaaagttttggtatccttc	9	8	0	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:63554353C>T	ENST00000375702.5	-	1	494	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.R129Q			Q9Y2T1	AXIN2_HUMAN	axin 2	129	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.R129L(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTTGGCTACTCGTAAAGTTTT	0.463									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								1	Substitution - Missense(1)	endometrium(1)											306	266	280					17																	63554353		2203	4300	6503	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.386G>A	17.37:g.63554353C>T	ENSP00000364854:p.Arg129Gln		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R129Q	ENST00000375702.5	37	c.386		17	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486049	0.44147	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.01821	4.62;4.62;4.62	4.59	4.59	0.56863	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	N	0.17082	0.46	0.80722	D	1	D;B;D	0.71674	0.998;0.029;0.998	P;B;P	0.55713	0.782;0.018;0.782	T	0.62148	-0.6915	10	0.66056	D	0.02	-5.2596	17.4003	0.87458	0.0:1.0:0.0:0.0	.	129;129;129	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	Q	129	ENSP00000302625:R129Q;ENSP00000441151:R129Q;ENSP00000364854:R129Q	ENSP00000302625:R129Q	R	-	2	0	AXIN2	60984815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.880000	0.63107	2.084000	0.62774	0.455000	0.32223	CGA	AXIN2	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.463	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	C	NM_004655		63554353	-1	no_errors	ENST00000307078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63554353	C	T	63554353	3	4	17	1	0	0	0	0	1	0	0	0	1238	884	31	1	2185	1	AXIN2	17	63554353	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	1025275	63554353	17640857	49	2696										
BPTF	2186	genome.wustl.edu	37	chr17	65914901	65914901	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	gttactgtgggcaagtttgaGatgggatgatatggcggcca	16	5	0	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:65914901G>A	ENST00000321892.4	+	14	5814	c.5753G>A	c.(5752-5754)aGa>aAa	p.R1918K	BPTF_ENST00000306378.6_Missense_Mutation_p.R1792K|BPTF_ENST00000424123.3_Missense_Mutation_p.R1779K|BPTF_ENST00000335221.5_Missense_Mutation_p.R1918K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1918					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCAAGTTTGAGATGGGATGAT	0.438																																																	0													154	150	151					17																	65914901		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5753G>A	17.37:g.65914901G>A	ENSP00000315454:p.Arg1918Lys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R1918K	ENST00000321892.4	37	c.5753		17	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592909	0.46214	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.74632	-0.86;-0.86;-0.86	5.53	5.53	0.82687	.	.	.	.	.	T	0.71813	0.3384	L	0.48174	1.505	0.46317	D	0.998984	P;B	0.37636	0.603;0.183	B;B	0.43478	0.421;0.12	T	0.73490	-0.3966	9	0.59425	D	0.04	-9.5782	10.6186	0.45465	0.1169:0.0:0.8831:0.0	.	1792;1918	Q12830-2;Q12830-4	.;.	K	1792;1918;1918	ENSP00000307208:R1792K;ENSP00000334351:R1918K;ENSP00000315454:R1918K	ENSP00000307208:R1792K	R	+	2	0	BPTF	63345363	1.000000	0.71417	0.821000	0.32701	0.064000	0.16182	6.718000	0.74713	2.610000	0.88304	0.650000	0.86243	AGA	BPTF	-	NULL		0.438	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65914901	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65914901	G	A	65914901	3	1	17	1	0	0	0	0	1	0	0	0	1498	942	33	1	5807	1	BPTF	17	65914901	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	2360548	65914901	15280309	50	2697										
EVPL	2125	genome.wustl.edu	37	chr17	74018012	74018012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tccagtcctgctgcaggatgCggcgctgctgctcagccagg	14	14	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr17:74018012C>T	ENST00000301607.3	-	7	996	c.743G>A	c.(742-744)cGc>cAc	p.R248H	EVPL_ENST00000586740.1_Missense_Mutation_p.R248H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	248	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCAGGATGCGGCGCTGCTG	0.741																																																	0													5	6	6					17																	74018012		2059	4079	6138	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.743G>A	17.37:g.74018012C>T	ENSP00000301607:p.Arg248His		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R248H	ENST00000301607.3	37	c.743	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813473	0.70912	.	.	ENSG00000167880	ENST00000301607	T	0.37235	1.21	4.35	4.35	0.52113	.	0.291116	0.30949	N	0.008545	T	0.42653	0.1212	L	0.57536	1.79	0.30088	N	0.808576	D;D	0.76494	0.999;0.986	P;P	0.53360	0.724;0.549	T	0.45352	-0.9267	10	0.46703	T	0.11	-12.7767	8.1185	0.30957	0.0:0.7633:0.0:0.2367	.	248;248	B7ZLH8;Q92817	.;EVPL_HUMAN	H	248	ENSP00000301607:R248H	ENSP00000301607:R248H	R	-	2	0	EVPL	71529607	0.245000	0.23899	1.000000	0.80357	0.962000	0.63368	0.180000	0.16860	2.140000	0.66376	0.462000	0.41574	CGC	EVPL	-	smart_Spectrin/alpha-actinin		0.741	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	C	NM_001988		74018012	-1	no_errors	ENST00000301607	ensembl	human	known	70_37	missense	SNP	0.814	T	T	74018012	C	T	74018012	3	4	17	1	0	0	0	0	1	0	0	0	5304	768	27	2	5422	2	EVPL	17	74018012	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	8103111	74018012	7177198	51	2698										
RNF165	494470	genome.wustl.edu	37	chr18	43914264	43914264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ctggtccacgtcggctatctCgtgcttccagtgtttggctc	11	13	1	0	rs79121450	byFrequency	TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr18:43914264C>T	ENST00000269439.7	+	1	78	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RNF165_ENST00000590330.1_Silent_p.L9L|RNF165_ENST00000543885.1_5'UTR|RNF165_ENST00000587853.1_Silent_p.L9L|RNF165_ENST00000588679.1_Silent_p.L9L	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	9							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TCGGCTATCTCGTGCTTCCAG	0.716																																																	0													101	77	85					18																	43914264		2203	4300	6503	SO:0001819	synonymous_variant	494470			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.27C>T	18.37:g.43914264C>T			B3KVD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.L9	ENST00000269439.7	37	c.27	CCDS32823.1	18																																																																																			RNF165	-	NULL		0.716	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF165	HGNC	protein_coding	OTTHUMT00000445358.1	C	NM_152470		43914264	1	no_errors	ENST00000269439	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43914264	C	T	43914264	2	4	17	1	0	0	0	0	0	0	0	1	13486	871	31	1		1	RNF165	18	43914264	Silent	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		43914264	34162984	52	2699										
KIAA0427	9811	genome.wustl.edu	37	chr18	46343613	46343613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	aggacttcacggtgcgcgagGagctgcagcagcaggacgtg	17	10	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr18:46343613G>A	ENST00000256413.3	+	10	1688	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	CTIF_ENST00000382998.4_Missense_Mutation_p.E467K	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	465	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGTGCGCGAGGAGCTGCAGCA	0.667																																																	0													75	54	61					18																	46343613		2203	4300	6503	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1393G>A	18.37:g.46343613G>A	ENSP00000256413:p.Glu465Lys		B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E467K	ENST00000256413.3	37	c.1399	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	g	16.90	3.249963	0.59212	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.21031	2.03;2.03	5.1	5.1	0.69264	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.328565	0.30920	N	0.008618	T	0.22551	0.0544	L	0.45137	1.4	0.37175	D	0.903219	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.06625	-1.0816	10	0.44086	T	0.13	-12.9078	18.6154	0.91300	0.0:0.0:1.0:0.0	.	467;465	O43310-2;O43310	.;CTIF_HUMAN	K	465;467;417	ENSP00000256413:E465K;ENSP00000372459:E467K	ENSP00000256413:E465K	E	+	1	0	CTIF	44597611	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.522000	0.81844	2.400000	0.81607	0.574000	0.79327	GAG	CTIF	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.667	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	G	NM_014772		46343613	1	no_errors	ENST00000382998	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46343613	G	A	46343613	3	1	17	1	0	0	0	0	1	0	0	0	8196	1175	41	1	1433	1	KIAA0427	18	46343613	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	2429349	46343613	31733635	53	2700										
C18orf54	162681	genome.wustl.edu	37	chr18	51892104	51892104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tttagcaaatctcctgttccCgttaactctgatgatagtcc	6	11	2	2	rs374556847		TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr18:51892104C>T	ENST00000300091.5	+	5	1088	c.756C>T	c.(754-756)ccC>ccT	p.P252P	C18orf54_ENST00000578138.1_Silent_p.P31P|C18orf54_ENST00000382911.4_Silent_p.P413P|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	252						extracellular region (GO:0005576)		p.P252P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CTCCTGTTCCCGTTAACTCTG	0.333																																																	2	Substitution - coding silent(2)	lung(2)						C		1,4405	2.1+/-5.4	0,1,2202	145	149	148		756	0.9	1	18		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C18orf54	NM_173529.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		252/373	51892104	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	162681			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.756C>T	18.37:g.51892104C>T			I7HFJ6|Q6MZU3|Q6ZTL6	Silent	SNP	NULL	p.P252	ENST00000300091.5	37	c.756	CCDS11956.1	18																																																																																			C18orf54	-	NULL		0.333	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf54	HGNC	protein_coding	OTTHUMT00000256001.1	C	NM_173529		51892104	1	no_errors	ENST00000300091	ensembl	human	known	70_37	silent	SNP	0.996	T	T	51892104	C	T	51892104	2	4	17	1	0	0	0	0	0	0	0	1	1909	639	23	2		2	C18orf54	18	51892104	Silent	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	5548491	51892104	26185144	54	2701										
ZNF493	284443	genome.wustl.edu	37	chr19	21607218	21607218	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	caaatcctttagtgtattctCaacccttactaaacacaaga	3	11	1	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:21607218C>G	ENST00000355504.4	+	2	1639	c.1373C>G	c.(1372-1374)tCa>tGa	p.S458*	ZNF493_ENST00000392288.2_Nonsense_Mutation_p.S586*|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGTGTATTCTCAACCCTTACT	0.353																																																	0													36	34	35					19																	21607218		2203	4298	6501	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1373C>G	19.37:g.21607218C>G	ENSP00000347691:p.Ser458*		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S458*	ENST00000355504.4	37	c.1373	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	20.5	3.994150	0.74703	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.9275	0.35650	0.0:1.0:0.0:0.0	.	.	.	.	X	586;458	.	ENSP00000347691:S458X	S	+	2	0	ZNF493	21399058	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.140000	0.10342	0.458000	0.26988	0.467000	0.42956	TCA	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	C	NM_175910		21607218	1	no_errors	ENST00000355504	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	21607218	C	G	21607218	4	3	17	1	0	0	0	0	0	1	0	0	17974	838	29	1	1834	1	ZNF493	19	21607218	Nonsense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		21607218	37521765	55	2702										
FCGBP	8857	genome.wustl.edu	37	chr19	40380155	40380155	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ctctgctccagccgcagggtGaagtttgccacctggaccgt	12	14	1	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:40380155G>A	ENST00000221347.6	-	23	11167	c.11160C>T	c.(11158-11160)ttC>ttT	p.F3720F	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3720	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGCAGGGTGAAGTTTGCCA	0.652																																																	0													4	5	5					19																	40380155		489	2394	2883	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11160C>T	19.37:g.40380155G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F3720	ENST00000221347.6	37	c.11160	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40380155	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.991	A	A	40380155	G	A	40380155	2	1	17	1	0	0	0	0	0	0	0	1	5796	1281	45	1		1	FCGBP	19	40380155	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	18772937	40380155	18748828	56	2703										
DEDD2	162989	genome.wustl.edu	37	chr19	42720852	42720852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ctggccggcgccgcttgcgcGccaggtgcggcagcaggtcg	18	15	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:42720852G>A	ENST00000595337.1	-	2	395	c.308C>T	c.(307-309)gCg>gTg	p.A103V	DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000598727.1_Missense_Mutation_p.A103V|DEDD2_ENST00000336034.4_Missense_Mutation_p.A103V|DEDD2_ENST00000596251.1_Missense_Mutation_p.A103V	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	103	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCGCTTGCGCGCCAGGTGCGG	0.711																																																	0													5	6	6					19																	42720852		1748	3623	5371	SO:0001583	missense	162989			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.308C>T	19.37:g.42720852G>A	ENSP00000470082:p.Ala103Val		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.A103V	ENST00000595337.1	37	c.308	CCDS12597.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552608	0.86127	.	.	ENSG00000160570	ENST00000336034	.	.	.	4.26	4.26	0.50523	DEATH-like (2);Death effector (3);	0.063724	0.64402	D	0.000004	T	0.30070	0.0753	N	0.14661	0.345	0.37716	D	0.924753	P;P	0.48589	0.893;0.912	B;B	0.36719	0.148;0.231	T	0.47923	-0.9079	9	0.72032	D	0.01	-25.232	15.9755	0.80060	0.0:0.0:1.0:0.0	.	103;103	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	V	103	.	ENSP00000336972:A103V	A	-	2	0	DEDD2	47412692	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.046000	0.64226	2.376000	0.81061	0.655000	0.94253	GCG	DEDD2	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED		0.711	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	G	NM_133328		42720852	-1	no_errors	ENST00000595337	ensembl	human	known	70_37	missense	SNP	0.980	A	A	42720852	G	A	42720852	3	1	17	1	0	0	0	0	1	0	0	0	4390	1087	38	2	688	2	DEDD2	19	42720852	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	2340697	42720852	16408131	57	2704										
PHLDB3	653583	genome.wustl.edu	37	chr19	43979673	43979673	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cgttcgtaggttttgacgcaGaaggtcaggcgggggttggg	19	6	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:43979673G>C	ENST00000292140.5	-	16	2172	c.1812C>G	c.(1810-1812)ttC>ttG	p.F604L		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	604	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TTTTGACGCAGAAGGTCAGGC	0.567																																																	0													47	54	52					19																	43979673		1902	4121	6023	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1812C>G	19.37:g.43979673G>C	ENSP00000292140:p.Phe604Leu		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F604L	ENST00000292140.5	37	c.1812	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	G	36	5.837276	0.97009	.	.	ENSG00000176531	ENST00000292140	D	0.82081	-1.57	4.35	4.35	0.52113	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.082106	0.47455	D	0.000223	D	0.91061	0.7187	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.79108	0.987;0.992	D	0.92097	0.5685	10	0.87932	D	0	.	15.236	0.73432	0.0:0.0:1.0:0.0	.	274;604	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	L	604	ENSP00000292140:F604L	ENSP00000292140:F604L	F	-	3	2	PHLDB3	48671513	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.001000	0.93568	2.713000	0.92767	0.456000	0.33151	TTC	PHLDB3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.567	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	G			43979673	-1	no_errors	ENST00000292140	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43979673	G	C	43979673	3	2	17	1	0	0	0	0	1	0	0	0	11877	933	33	1	114	1	PHLDB3	19	43979673	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	1258821	43979673	15149310	58	2705										
ZNF350	59348	genome.wustl.edu	37	chr19	52468256	52468256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tggctgtcccacaaggactaCgttcctgtttgcgaggaggc	13	11	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:52468256C>T	ENST00000243644.4	-	5	1677	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	484					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ACAAGGACTACGTTCCTGTTT	0.512																																																	0													98	83	88					19																	52468256		2203	4300	6503	SO:0001583	missense	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1450G>A	19.37:g.52468256C>T	ENSP00000243644:p.Val484Ile		Q96G73|Q9HAQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V484I	ENST00000243644.4	37	c.1450	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	C	3.920	-0.018264	0.07681	.	.	ENSG00000256683	ENST00000243644	T	0.05649	3.41	3.41	-0.00998	0.13998	.	0.814028	0.10033	N	0.724521	T	0.05868	0.0153	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.36768	-0.9734	10	0.56958	D	0.05	.	9.2796	0.37720	0.0:0.7263:0.0:0.2737	.	484	Q9GZX5	ZN350_HUMAN	I	484	ENSP00000243644:V484I	ENSP00000243644:V484I	V	-	1	0	ZNF350	57160068	0.983000	0.35010	0.000000	0.03702	0.005000	0.04900	2.704000	0.47118	-0.258000	0.09446	-1.937000	0.00501	GTA	ZNF350	-	NULL		0.512	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	C	NM_021632		52468256	-1	no_errors	ENST00000243644	ensembl	human	known	70_37	missense	SNP	0.000	T	T	52468256	C	T	52468256	3	4	17	1	0	0	0	0	1	0	0	0	17893	536	19	2	152	2	ZNF350	19	52468256	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	8488583	52468256	6660727	59	2706										
ZNF773	374928	genome.wustl.edu	37	chr19	58018106	58018107	+	Missense_Mutation	DNP	GG	GG	TC													0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	agcaccagagactgcacactGgggaaaagccttatgaatgc							TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:58018106_58018107GG>TC	ENST00000282292.4	+	4	783_784	c.643_644GG>TC	c.(643-645)GGg>TCg	p.G215S	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.G214S|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ACTGCACACTGGGGAAAAGCCT	0.426																																																	0																																										SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		Exception_encountered	19.37:g.58018106_58018107delinsTC	ENSP00000282292:p.Gly215Ser		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G215W|p.G215A	ENST00000282292.4	37	c.643|c.644	CCDS33134.1	19																																																																																			ZNF773	-	pfscan_Znf_C2H2		0.426	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58018106|58018107	1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.960|0.961	T|C	TC	58018107	GG	TC	58018106	3	4	17	1	0	0	0	0	1	0	0	0	18176	1348	47	4	657	4	ZNF773	19	58018106	Missense_Mutation	DNP	GG	TCGA-C5-A1M8-01A-21D-A13W-08	5549850	58018106	1110877	60	2707										
ZNF814	730051	genome.wustl.edu	37	chr19	58384594	58384594	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cttgtttctaaaaaatttctGacaagcttcacaagcatatg	5	8	3	1			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:58384594G>A	ENST00000435989.2	-	3	2398	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	722					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAAAATTTCTGACAAGCTTCA	0.373																																																	0													71	59	63					19																	58384594		692	1591	2283	SO:0001587	stop_gained	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2164C>T	19.37:g.58384594G>A	ENSP00000410545:p.Gln722*		A6NF35	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q722*	ENST00000435989.2	37	c.2164	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	37	6.100909	0.97281	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	.	.	.	1.81	0.615	0.17608	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.5638	0.33527	0.0:0.5084:0.4916:0.0	.	.	.	.	X	722;472	.	ENSP00000365378:Q472X	Q	-	1	0	ZNF814	63076406	0.071000	0.21146	0.007000	0.13788	0.032000	0.12392	0.956000	0.29202	0.084000	0.17077	0.305000	0.20034	CAG	ZNF814	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384594	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	nonsense	SNP	0.963	A	A	58384594	G	A	58384594	4	1	17	1	0	0	0	0	0	1	0	0	18206	1299	45	1	407	1	ZNF814	19	58384594	Nonsense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	366488	58384594	744389	61	2708										
ZNF814	730051	genome.wustl.edu	37	chr19	58384729	58384729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	agtatggccatgctggtgtaGaatgaggttacccttgtgac	13	7	0	3			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:58384729G>C	ENST00000435989.2	-	3	2263	c.2029C>G	c.(2029-2031)Cta>Gta	p.L677V	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	677					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGCTGGTGTAGAATGAGGTTA	0.408																																																	0													68	57	61					19																	58384729		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2029C>G	19.37:g.58384729G>C	ENSP00000410545:p.Leu677Val		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L677V	ENST00000435989.2	37	c.2029	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	1.391	-0.580802	0.03854	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.17370	2.28	2.08	-4.16	0.03869	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.04746	-0.17	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.28618	-1.0038	9	0.22109	T	0.4	.	1.274	0.02027	0.139:0.3155:0.259:0.2866	.	677	B7Z6K7	ZN814_HUMAN	V	677;427	ENSP00000410545:L677V	ENSP00000365378:L427V	L	-	1	2	ZNF814	63076541	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-8.060000	0.00025	-2.622000	0.00439	0.305000	0.20034	CTA	ZNF814	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384729	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.000	C	C	58384729	G	C	58384729	3	2	17	1	0	0	0	0	1	0	0	0	18206	933	33	1	542	1	ZNF814	19	58384729	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	135	58384729	744254	62	2709										
ZSCAN1	284312	genome.wustl.edu	37	chr19	58564883	58564883	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	cctcctcagacctgcgggcaGaagggactgtgatctcgagc	13	13	2	3			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr19:58564883G>T	ENST00000282326.1	+	6	938	c.691G>T	c.(691-693)Gaa>Taa	p.E231*		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	231					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTGCGGGCAGAAGGGACTGT	0.642																																																	0													47	50	49					19																	58564883		2203	4300	6503	SO:0001587	stop_gained	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.691G>T	19.37:g.58564883G>T	ENSP00000282326:p.Glu231*		Q3B798|Q6WLH8|Q86WS8	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E231*	ENST00000282326.1	37	c.691	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744621	0.69418	.	.	ENSG00000152467	ENST00000282326	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.41018	D	0.98505	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	7.9385	0.29944	0.0:0.0:1.0:0.0	.	.	.	.	X	231	.	ENSP00000282326:E231X	E	+	1	0	ZSCAN1	63256695	0.085000	0.21516	0.054000	0.19295	0.076000	0.17211	1.625000	0.37029	0.863000	0.35553	0.491000	0.48974	GAA	ZSCAN1	-	NULL		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	G	NM_182572		58564883	1	no_errors	ENST00000282326	ensembl	human	known	70_37	nonsense	SNP	0.528	T	T	58564883	G	T	58564883	4	4	17	1	0	0	0	0	0	1	0	0	18256	943	33	3	705	3	ZSCAN1	19	58564883	Nonsense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	180154	58564883	564100	63	2710										
XRN2	22803	genome.wustl.edu	37	chr20	21367612	21367612	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tagctgggcctggtgggtatCcacccagacgagatgatcgt	14	10	0	3			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr20:21367612C>G	ENST00000377191.3	+	29	2850	c.2755C>G	c.(2755-2757)Cca>Gca	p.P919A	XRN2_ENST00000539513.1_Missense_Mutation_p.P865A|XRN2_ENST00000430571.2_Missense_Mutation_p.P843A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	919					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGTGGGTATCCACCCAGACG	0.522																																																	0													96	88	90					20																	21367612		2203	4300	6503	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2755C>G	20.37:g.21367612C>G	ENSP00000366396:p.Pro919Ala		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.P919A	ENST00000377191.3	37	c.2755	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158738	0.38119	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.28069	1.63;1.63;1.63	5.95	5.01	0.66863	.	0.270344	0.38548	N	0.001654	T	0.18593	0.0446	N	0.14661	0.345	0.37709	D	0.924496	B	0.02656	0.0	B	0.04013	0.001	T	0.07233	-1.0783	10	0.48119	T	0.1	-4.7713	10.0355	0.42127	0.0:0.7901:0.1384:0.0715	.	919	Q9H0D6	XRN2_HUMAN	A	919;843;865	ENSP00000366396:P919A;ENSP00000413548:P843A;ENSP00000441113:P865A	ENSP00000366396:P919A	P	+	1	0	XRN2	21315612	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	2.657000	0.46724	1.523000	0.49018	0.655000	0.94253	CCA	XRN2	-	pirsf_5_3_exoribonuclease_2		0.522	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21367612	1	no_errors	ENST00000377191	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21367612	C	G	21367612	3	3	17	1	0	0	0	0	1	0	0	0	17491	855	30	1	2869	1	XRN2	20	21367612	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08		21367612	41657908	64	2711										
LAMA5	3911	genome.wustl.edu	37	chr20	60901971	60901971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggggacaaagacatctccccGctgggtctctgagtgcagtt	13	11	2	2	rs375141745		TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr20:60901971G>A	ENST00000252999.3	-	39	5230	c.5164C>T	c.(5164-5166)Cgg>Tgg	p.R1722W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1722	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACATCTCCCCGCTGGGTCTCT	0.627																																																	0								G	TRP/ARG	0,4406		0,0,2203	134	116	122		5164	4.2	1	20		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA5	NM_005560.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1722/3696	60901971	1,13005	2203	4300	6503	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5164C>T	20.37:g.60901971G>A	ENSP00000252999:p.Arg1722Trp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R1722W	ENST00000252999.3	37	c.5164	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794695	0.31777	0.0	1.16E-4	ENSG00000130702	ENST00000252999	T	0.22336	1.96	5.12	4.16	0.48862	Laminin B type IV (2);Laminin B, subgroup (1);	0.054041	0.64402	D	0.000001	T	0.47985	0.1475	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51332	-0.8719	10	0.72032	D	0.01	.	8.7148	0.34405	0.0:0.1225:0.5793:0.2982	.	1722	O15230	LAMA5_HUMAN	W	1722	ENSP00000252999:R1722W	ENSP00000252999:R1722W	R	-	1	2	LAMA5	60335366	1.000000	0.71417	0.969000	0.41365	0.003000	0.03518	1.831000	0.39141	1.142000	0.42291	-0.315000	0.08773	CGG	LAMA5	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60901971	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.995	A	A	60901971	G	A	60901971	3	1	17	1	0	0	0	0	1	0	0	0	8629	1086	38	2	6091	2	LAMA5	20	60901971	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	39534359	60901971	2123549	65	2712										
PCBP3	54039	genome.wustl.edu	37	chr21	47320525	47320525	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	aaaggagaaactgtgaagaaGatgcgtgaggaggtgagtgt	17	2	0	6			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr21:47320525G>T	ENST00000400314.1	+	6	548	c.210G>T	c.(208-210)aaG>aaT	p.K70N	PCBP3_ENST00000400310.1_Missense_Mutation_p.K70N|PCBP3_ENST00000400308.1_Missense_Mutation_p.K70N|PCBP3_ENST00000449640.1_Missense_Mutation_p.K70N|PCBP3_ENST00000400309.1_Missense_Mutation_p.K70N|PCBP3_ENST00000400304.1_Missense_Mutation_p.K38N			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	70	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CTGTGAAGAAGATGCGTGAGG	0.607																																																	0													50	58	56					21																	47320525		1963	4144	6107	SO:0001583	missense	54039			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.210G>T	21.37:g.47320525G>T	ENSP00000383168:p.Lys70Asn		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.K70N	ENST00000400314.1	37	c.210	CCDS42974.2	21	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480261	0.63849	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.26	4.37	0.52481	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.135938	0.64402	D	0.000005	T	0.45094	0.1325	L	0.45470	1.425	0.53688	D	0.999973	P;B;D;D;B;D;B	0.76494	0.911;0.327;0.984;0.999;0.191;0.999;0.055	D;B;D;D;B;D;B	0.91635	0.955;0.229;0.97;0.998;0.229;0.999;0.145	T	0.31861	-0.9928	10	0.46703	T	0.11	-22.9872	9.75	0.40470	0.1587:0.0:0.8413:0.0	.	38;70;38;70;70;70;70	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	N	70;70;70;70;70;70;46;38	ENSP00000383168:K70N;ENSP00000383165:K70N;ENSP00000383164:K70N;ENSP00000383163:K70N;ENSP00000401198:K70N;ENSP00000383160:K46N;ENSP00000383159:K38N	ENSP00000330225:K70N	K	+	3	2	PCBP3	46144953	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.082000	0.50128	1.367000	0.46095	0.655000	0.94253	AAG	PCBP3	-	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1		0.607	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	G			47320525	1	no_errors	ENST00000400314	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47320525	G	T	47320525	3	4	17	1	0	0	0	0	1	0	0	0	11526	933	33	3	224	3	PCBP3	21	47320525	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		47320525	809370	66	2713										
CECR2	27443	genome.wustl.edu	37	chr22	18022027	18022027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	tccagctcagttccagccagGattcattcctccccggcatg	8	16	2	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr22:18022027G>T	ENST00000400585.2	+	16	2144	c.1706G>T	c.(1705-1707)gGa>gTa	p.G569V	CECR2_ENST00000400573.5_Missense_Mutation_p.G710V|CECR2_ENST00000262608.8_Missense_Mutation_p.G711V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	752					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTCCAGCCAGGATTCATTCCT	0.552																																																	0													22	24	23					22																	18022027		1922	4126	6048	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1706G>T	22.37:g.18022027G>T	ENSP00000383428:p.Gly569Val		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G710V	ENST00000400585.2	37	c.2129		22	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400346	0.62177	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.39229	1.21;1.22;1.09	5.43	4.39	0.52855	.	0.123056	0.36482	N	0.002565	T	0.52964	0.1767	M	0.67953	2.075	0.80722	D	1	D;D;D	0.64830	0.994;0.989;0.989	P;P;P	0.54856	0.762;0.762;0.762	T	0.57481	-0.7804	10	0.66056	D	0.02	-16.8234	11.0059	0.47633	0.0:0.2604:0.605:0.1346	.	752;569;710	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	569;710;711	ENSP00000383428:G569V;ENSP00000383417:G710V;ENSP00000262608:G711V	ENSP00000262608:G711V	G	+	2	0	CECR2	16402027	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.879000	0.48522	1.487000	0.48415	0.655000	0.94253	GGA	CECR2	-	NULL		0.552	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18022027	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	18022027	G	T	18022027	3	4	17	1	0	0	0	0	1	0	0	0	3211	1174	41	3	2189	3	CECR2	22	18022027	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		18022027	33282539	67	2714										
MIOX	55586	genome.wustl.edu	37	chr22	50928004	50928004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ctccttctacccctggcacaCgggccgcgactaccagcagc	9	19	1	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chr22:50928004C>T	ENST00000216075.6	+	9	754	c.680C>T	c.(679-681)aCg>aTg	p.T227M	MIOX_ENST00000395732.3_Missense_Mutation_p.T227M|MIOX_ENST00000395733.3_Intron	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	227					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGGCACACGGGCCGCGAC	0.672																																																	0													27	27	27					22																	50928004		2201	4298	6499	SO:0001583	missense	55586			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.680C>T	22.37:g.50928004C>T	ENSP00000216075:p.Thr227Met		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	pfam_Inositol_oxygenase	p.T227M	ENST00000216075.6	37	c.680	CCDS14092.1	22	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972160	0.53614	.	.	ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	5.22	3.03	0.35002	.	0.385387	0.28933	N	0.013667	T	0.50222	0.1603	M	0.76838	2.35	0.31793	N	0.629443	P;D	0.54772	0.935;0.968	P;P	0.45276	0.475;0.454	T	0.61992	-0.6948	9	0.51188	T	0.08	-21.3394	9.9461	0.41609	0.1567:0.6922:0.1511:0.0	.	227;227	A6PVH2;Q9UGB7	.;MIOX_HUMAN	M	227;227;207	.	ENSP00000216075:T227M	T	+	2	0	MIOX	49274870	1.000000	0.71417	0.859000	0.33776	0.423000	0.31445	4.455000	0.60075	0.527000	0.28560	0.655000	0.94253	ACG	MIOX	-	pfam_Inositol_oxygenase		0.672	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOX	HGNC	protein_coding	OTTHUMT00000316835.1	C	NM_017584		50928004	1	no_errors	ENST00000216075	ensembl	human	known	70_37	missense	SNP	0.990	T	T	50928004	C	T	50928004	3	4	17	1	0	0	0	0	1	0	0	0	9613	536	19	2	714	2	MIOX	22	50928004	Missense_Mutation	SNP	C	TCGA-C5-A1M8-01A-21D-A13W-08	32905977	50928004	376562	68	2715										
FAM47C	442444	genome.wustl.edu	37	chrX	37026576	37026576	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ccgccttccaagtacttcgcGaagcgcaagcacaggcgcct	10	16	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chrX:37026576G>A	ENST00000358047.3	+	1	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTACTTCGCGAAGCGCAAGC	0.642																																																	0													27	26	26					X																	37026576		2202	4297	6499	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.93G>A	X.37:g.37026576G>A			Q6ZU46	Silent	SNP	NULL	p.A31	ENST00000358047.3	37	c.93	CCDS35227.1	X																																																																																			FAM47C	-	NULL		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	G	NM_001013736		37026576	1	no_errors	ENST00000358047	ensembl	human	known	70_37	silent	SNP	0.009	A	A	37026576	G	A	37026576	2	1	17	1	0	0	0	0	0	0	0	1	5589	1045	37	1		1	FAM47C	23	37026576	Silent	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08		37026576	118243984	69	2716										
SPANXN5	494197	genome.wustl.edu	37	chrX	52826382	52826382	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	attggtgcttgaagtgggctTttccatgattctggttggtt	13	5	1	2			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chrX:52826382T>A	ENST00000375511.3	-	1	759	c.7A>T	c.(7-9)Aag>Tag	p.K3*		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	3										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					GAAGTGGGCTTTTCCATGATT	0.473																																																	0													275	229	244					X																	52826382		2203	4300	6503	SO:0001587	stop_gained	494197				CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 10"	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.7A>T	X.37:g.52826382T>A	ENSP00000364661:p.Lys3*			Nonsense_Mutation	SNP	pfam_SPANX_prot	p.K3*	ENST00000375511.3	37	c.7	CCDS35295.1	X	.	.	.	.	.	.	.	.	.	.	t	36	5.863909	0.97043	.	.	ENSG00000204363	ENST00000375511	.	.	.	0.137	-0.274	0.12910	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999995	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	.	.	.	.	.	.	.	X	3	.	ENSP00000364661:K3X	K	-	1	0	SPANXN5	52843107	0.290000	0.24343	0.005000	0.12908	0.005000	0.04900	0.665000	0.25083	-0.837000	0.04223	-0.828000	0.03084	AAG	SPANXN5	-	pfam_SPANX_prot		0.473	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN5	HGNC	protein_coding	OTTHUMT00000056690.2	T	NM_001009616		52826382	-1	no_errors	ENST00000375511	ensembl	human	known	70_37	nonsense	SNP	0.005	A	A	52826382	T	A	52826382	4	1	17	1	0	0	0	0	0	1	0	0	15024	1850	64	5	219	5	SPANXN5	23	52826382	Nonsense_Mutation	SNP	T	TCGA-C5-A1M8-01A-21D-A13W-08	15799806	52826382	102444178	70	2717										
PHKA1	5255	genome.wustl.edu	37	chrX	71932674	71932674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	atcccggtctgcattcttccGataggccaggcccaaacccc	8	17	2	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chrX:71932674G>A	ENST00000373542.4	-	2	343	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PHKA1_ENST00000373539.3_Missense_Mutation_p.R62W|PHKA1_ENST00000373545.3_Missense_Mutation_p.R62W|PHKA1_ENST00000339490.3_Missense_Mutation_p.R62W|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000541944.1_Missense_Mutation_p.R62W	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	62					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCATTCTTCCGATAGGCCAGG	0.478																																																	0													58	50	53					X																	71932674		2203	4297	6500	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.184C>T	X.37:g.71932674G>A	ENSP00000362643:p.Arg62Trp		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R62W	ENST00000373542.4	37	c.184	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617432	0.66787	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.52	3.64	0.41730	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.103672	0.64402	D	0.000006	D	0.96445	0.8840	M	0.92833	3.35	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96273	0.9200	10	0.87932	D	0	-17.3194	10.7051	0.45950	0.0:0.0:0.808:0.192	.	62;62;62	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	W	62	ENSP00000362646:R62W;ENSP00000362643:R62W;ENSP00000441251:R62W;ENSP00000342469:R62W;ENSP00000362640:R62W	ENSP00000342469:R62W	R	-	1	2	PHKA1	71849399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.626000	0.24492	0.990000	0.38787	0.600000	0.82982	CGG	PHKA1	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.478	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71932674	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71932674	G	A	71932674	3	1	17	1	0	0	0	0	1	0	0	0	11867	1057	37	1	3611	1	PHKA1	23	71932674	Missense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	19106292	71932674	83337886	71	2718										
DUSP9	1852	genome.wustl.edu	37	chrX	152913687	152913687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.208333333333333	15	0.0051480513265071	2.16713483146067	3.71508828250401	1.69601856375183	0.490528929083845	0.714673441245685	8	ggcgccggcgcggggaggccGaggccgaggccgaggagtgg	24	11	0	0			TCGA-C5-A1M8-01A-21D-A13W-08	TCGA-C5-A1M8-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24099828-5f1b-4004-b6ec-52eb184d7a54	358a6d54-df1e-4648-93eb-35175ae7c123	g.chrX:152913687G>T	ENST00000342782.3	+	2	545	c.280G>T	c.(280-282)Gag>Tag	p.E94*	DUSP9_ENST00000370167.4_Nonsense_Mutation_p.E94*			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	94	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					cggggAGGCCGAGGCCGAGGC	0.761																																																	0													4	2	3					X																	152913687		1219	2160	3379	SO:0001587	stop_gained	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.280G>T	X.37:g.152913687G>T	ENSP00000345853:p.Glu94*		D3DWU5	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E94*	ENST00000342782.3	37	c.280	CCDS14724.1	X	.	.	.	.	.	.	.	.	.	.	g	13.74	2.325997	0.41197	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	.	.	.	4.12	3.24	0.37175	.	1.391760	0.04986	N	0.466535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	5.1738	0.15124	0.3686:0.0:0.6314:0.0	.	.	.	.	X	94	.	ENSP00000345853:E94X	E	+	1	0	DUSP9	152566881	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	5.010000	0.64004	0.750000	0.32877	0.525000	0.51046	GAG	DUSP9	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom		0.761	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	HGNC	protein_coding	OTTHUMT00000061022.3	G	NM_001395		152913687	1	no_errors	ENST00000342782	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	152913687	G	T	152913687	4	4	17	1	0	0	0	0	0	1	0	0	4842	1059	37	3	282	3	DUSP9	23	152913687	Nonsense_Mutation	SNP	G	TCGA-C5-A1M8-01A-21D-A13W-08	80981013	152913687	2356873	72	2719										
MTHFR	4524	genome.wustl.edu	37	chr1	11854118	11854118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ggctggtctcagccgccaggGgctcatcgttccagggcagg	16	13	2	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:11854118G>A	ENST00000376592.1	-	8	1504	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	MTHFR_ENST00000376585.1_Missense_Mutation_p.P500L|MTHFR_ENST00000376583.3_Missense_Mutation_p.P500L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P459L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	459					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AGCCGCCAGGGGCTCATCGTT	0.647																																																	0													72	75	74					1																	11854118		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1376C>T	1.37:g.11854118G>A	ENSP00000365777:p.Pro459Leu		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.P500L	ENST00000376592.1	37	c.1499	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307133	0.81247	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	M	0.86502	2.82	0.80722	D	1	D;D	0.62365	0.967;0.991	P;P	0.54060	0.67;0.741	D	0.84828	0.0800	10	0.66056	D	0.02	.	16.659	0.85236	0.0:0.0:1.0:0.0	.	459;500	P42898;Q5SNW6	MTHR_HUMAN;.	L	459;500;459;500	ENSP00000365777:P459L;ENSP00000365767:P500L;ENSP00000365775:P459L;ENSP00000365770:P500L	ENSP00000365767:P500L	P	-	2	0	MTHFR	11776705	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	9.338000	0.96553	2.176000	0.68965	0.455000	0.32223	CCC	MTHFR	-	NULL		0.647	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	G	NM_005957		11854118	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11854118	G	A	11854118	3	1	18	1	0	0	0	0	1	0	0	0	9954	1232	43	4	610	4	MTHFR	1	11854118	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		11854118	237396503	1	2720										
ARID1A	8289	genome.wustl.edu	37	chr1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tttgcctgcctgtcctggacGgactcctacactgggcagtt	11	13	0	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:27106648G>A	ENST00000324856.7	+	20	6630	c.6259G>A	c.(6259-6261)Gga>Aga	p.G2087R	ARID1A_ENST00000540690.1_Missense_Mutation_p.G415R|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704R|ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2087			G -> R (found in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:22009941}.		androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G2087R(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACA	0.592			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	breast(1)											89	88	88					1																	27106648		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6259G>A	1.37:g.27106648G>A	ENSP00000320485:p.Gly2087Arg		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G2087R	ENST00000324856.7	37	c.6259	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.30|18.30	3.594610|3.594610	0.66219|0.66219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.051909|.	0.85682|.	N|.	0.000000|.	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.83271|0.83271	-0.0043|-0.0043	10|5	0.87932|.	D|.	0|.	-4.2604|-4.2604	19.0485|19.0485	0.93032|0.93032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1704;2087;1870|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	R|Q	2087;1870;1704;415|983	ENSP00000320485:G2087R;ENSP00000387636:G1870R;ENSP00000363267:G1704R;ENSP00000442437:G415R|.	ENSP00000320485:G2087R|.	G|R	+|+	1|2	0|0	ARID1A|ARID1A	26979235|26979235	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	9.413000|9.413000	0.97351|0.97351	2.814000|2.814000	0.96858|0.96858	0.585000|0.585000	0.79938|0.79938	GGA|CGG	ARID1A	-	pfam_DUF3518		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27106648	1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27106648	G	A	27106648	3	1	18	1	0	0	0	0	1	0	0	0	913	1117	39	2	6337	2	ARID1A	1	27106648	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	15252530	27106648	222143973	2	2721										
RPAP2	79871	genome.wustl.edu	37	chr1	92798963	92798963	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ttcagcatgattccacctttCcactgatagactcaagttcc	5	13	2	3			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:92798963C>G	ENST00000610020.1	+	9	1580	c.1471C>G	c.(1471-1473)Cca>Gca	p.P491A		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	491					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCCACCTTTCCACTGATAGA	0.333																																																	0													136	131	132					1																	92798963		2203	4299	6502	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1471C>G	1.37:g.92798963C>G	ENSP00000476948:p.Pro491Ala		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.P491A	ENST00000610020.1	37	c.1471	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192635	0.78902	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	M	0.82323	2.585	0.37101	D	0.899901	D	0.89917	1.0	D	0.87578	0.998	D	0.84108	0.0399	8	0.87932	D	0	-10.5531	19.3694	0.94479	0.0:1.0:0.0:0.0	.	491	Q8IXW5	RPAP2_HUMAN	A	491	.	ENSP00000359368:P491A	P	+	1	0	RPAP2	92571551	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.013000	0.70776	2.596000	0.87737	0.484000	0.47621	CCA	RPAP2	-	NULL		0.333	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	C	NM_024813		92798963	1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92798963	C	G	92798963	3	3	18	1	0	0	0	0	1	0	0	0	13572	855	30	1	1505	1	RPAP2	1	92798963	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	65692315	92798963	156451658	3	2722										
CD244	51744	genome.wustl.edu	37	chr1	160811119	160811119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgtcaacctcctcgtccaggTaggtgaggttccctgctgtc	11	13	1	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:160811119T>C	ENST00000368033.3	-	3	633	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	CD244_ENST00000368034.4_Missense_Mutation_p.Y179C|CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.Y179C|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	184	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCGTCCAGGTAGGTGAGGTT	0.522																																																	0													256	205	222					1																	160811119		2203	4300	6503	SO:0001583	missense	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.551A>G	1.37:g.160811119T>C	ENSP00000357012:p.Tyr184Cys		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like	p.Y184C	ENST00000368033.3	37	c.551	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238799	0.39598	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.38240	1.15;1.15;1.15	4.73	-4.64	0.03349	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.081450	0.00531	N	0.000213	T	0.12860	0.0312	L	0.34521	1.04	0.09310	N	1	D;P	0.52996	0.957;0.733	P;P	0.49421	0.61;0.498	T	0.09930	-1.0652	10	0.39692	T	0.17	-21.975	0.5266	0.00621	0.4067:0.1696:0.1392:0.2845	.	184;179	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	C	179;184;179	ENSP00000357013:Y179C;ENSP00000357012:Y184C;ENSP00000357011:Y179C	ENSP00000357011:Y179C	Y	-	2	0	CD244	159077743	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.188000	0.09642	-0.646000	0.05452	-0.258000	0.10820	TAC	CD244	-	pfscan_Ig-like		0.522	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	T	NM_016382		160811119	-1	no_errors	ENST00000368033	ensembl	human	known	70_37	missense	SNP	0.000	C	C	160811119	T	C	160811119	3	2	18	1	0	0	0	0	1	0	0	0	2992	1638	57	5	589	5	CD244	1	160811119	Missense_Mutation	SNP	T	TCGA-C5-A1M9-01A-11D-A13W-08	68012156	160811119	88439502	4	2723										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232626797	232626797	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tcttctaaaattgctcctctCagtgttgtaagctgcagtga	8	9	3	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr1:232626797C>T	ENST00000366630.1	-	4	1987	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Silent_p.L543L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	543					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGCTCCTCTCAGTGTTGTAA	0.428																																																	0													56	56	56					1																	232626797		1952	4141	6093	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1629G>A	1.37:g.232626797C>T			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L543	ENST00000366630.1	37	c.1629	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232626797	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	silent	SNP	0.990	T	T	232626797	C	T	232626797	2	4	18	1	0	0	0	0	0	0	0	1	14360	813	29	1		1	SIPA1L2	1	232626797	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	71815678	232626797	16623824	5	2724										
AOX1	316	genome.wustl.edu	37	chr2	201507422	201507422	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gcatgcagaaccaaccttccAtccaacacagcttttcgtgg	7	14	0	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:201507422A>C	ENST00000374700.2	+	25	2986	c.2745A>C	c.(2743-2745)ccA>ccC	p.P915P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	915					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAACCTTCCATCCAACACAG	0.498																																																	0													90	83	86					2																	201507422		2203	4300	6503	SO:0001819	synonymous_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2745A>C	2.37:g.201507422A>C			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.P915	ENST00000374700.2	37	c.2745	CCDS33360.1	2																																																																																			AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	A	NM_001159		201507422	1	no_errors	ENST00000374700	ensembl	human	known	70_37	silent	SNP	0.048	C	C	201507422	A	C	201507422	2	2	18	1	0	0	0	0	0	0	0	1	729	204	8	5		5	AOX1	2	201507422	Silent	SNP	A	TCGA-C5-A1M9-01A-11D-A13W-08		201507422	41691951	6	2725										
FN1	2335	genome.wustl.edu	37	chr2	216272840	216272840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gcttagctgacctgtgatggGagcctggggtctgctccagc	15	11	1	2			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:216272840G>A	ENST00000359671.1	-	17	2774	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	FN1_ENST00000323926.6_Missense_Mutation_p.P837S|FN1_ENST00000446046.1_Missense_Mutation_p.P837S|FN1_ENST00000354785.4_Missense_Mutation_p.P837S|FN1_ENST00000443816.1_Missense_Mutation_p.P837S|FN1_ENST00000345488.5_Missense_Mutation_p.P837S|FN1_ENST00000357867.4_Missense_Mutation_p.P837S|FN1_ENST00000336916.4_Missense_Mutation_p.P837S|FN1_ENST00000356005.4_Missense_Mutation_p.P837S|FN1_ENST00000346544.3_Missense_Mutation_p.P837S|FN1_ENST00000357009.2_Missense_Mutation_p.P837S|FN1_ENST00000421182.1_Missense_Mutation_p.P837S|FN1_ENST00000432072.2_Missense_Mutation_p.P837S			P02751	FINC_HUMAN	fibronectin 1	837	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTGTGATGGGAGCCTGGGGT	0.527																																																	0													82	88	86					2																	216272840		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2509C>T	2.37:g.216272840G>A	ENSP00000352696:p.Pro837Ser		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.P837S	ENST00000359671.1	37	c.2509		2	.	.	.	.	.	.	.	.	.	.	G	35	5.468878	0.96274	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	T	0.75932	0.3917	M	0.62154	1.92	0.80722	D	1	D;D;B;D;D;D;D;D;D;D	0.76494	0.999;0.969;0.094;0.999;0.999;0.964;0.999;0.999;0.999;0.999	D;D;B;D;D;D;D;D;D;D	0.91635	0.998;0.918;0.113;0.997;0.998;0.915;0.999;0.997;0.997;0.998	T	0.75964	-0.3132	10	0.72032	D	0.01	.	20.3212	0.98679	0.0:0.0:1.0:0.0	.	837;837;837;837;837;837;837;837;837;837	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	837	ENSP00000394423:P837S;ENSP00000323534:P837S;ENSP00000338200:P837S;ENSP00000350534:P837S;ENSP00000346839:P837S;ENSP00000352696:P837S;ENSP00000265312:P837S;ENSP00000273049:P837S;ENSP00000349509:P837S;ENSP00000410422:P837S;ENSP00000415018:P837S;ENSP00000399538:P837S;ENSP00000348285:P837S	ENSP00000265313:P837S	P	-	1	0	FN1	215981085	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	9.869000	0.99810	2.810000	0.96702	0.650000	0.86243	CCC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216272840	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	1.000	A	A	216272840	G	A	216272840	3	1	18	1	0	0	0	0	1	0	0	0	5980	1174	41	1	5044	1	FN1	2	216272840	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	14765418	216272840	26926533	7	2726			1	13		2	2	33	G		5.788555e-05
FN1	2335	genome.wustl.edu	37	chr2	216272872	216272872	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgctccagcgaacaacaattGaggtgtcatcaacttggtcc	9	11	2	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr2:216272872G>C	ENST00000359671.1	-	17	2742	c.2477C>G	c.(2476-2478)tCa>tGa	p.S826*	FN1_ENST00000323926.6_Nonsense_Mutation_p.S826*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S826*|FN1_ENST00000354785.4_Nonsense_Mutation_p.S826*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S826*|FN1_ENST00000345488.5_Nonsense_Mutation_p.S826*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S826*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S826*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S826*|FN1_ENST00000346544.3_Nonsense_Mutation_p.S826*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S826*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S826*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S826*			P02751	FINC_HUMAN	fibronectin 1	826	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AACAACAATTGAGGTGTCATC	0.522																																																	0													88	92	91					2																	216272872		2203	4300	6503	SO:0001587	stop_gained	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2477C>G	2.37:g.216272872G>C	ENSP00000352696:p.Ser826*		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.S826*	ENST00000359671.1	37	c.2477		2	.	.	.	.	.	.	.	.	.	.	G	43	10.517703	0.99420	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	826	.	ENSP00000265313:S826X	S	-	2	0	FN1	215981117	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	TCA	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.522	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216272872	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	216272872	G	C	216272872	4	2	18	1	0	0	0	0	0	1	0	0	5980	1294	45	1	5076	1	FN1	2	216272872	Nonsense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	32	216272872	26926501	8	2727			1	13		2	2	33	G		5.788555e-05
CBLB	868	genome.wustl.edu	37	chr3	105464807	105464807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tagtcgtgctttaacttcatCatatgtgagaaatgccatgt	8	7	2	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:105464807C>T	ENST00000264122.4	-	6	1120	c.799G>A	c.(799-801)Gat>Aat	p.D267N	CBLB_ENST00000405772.1_Missense_Mutation_p.D267N|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.D289N|CBLB_ENST00000403724.1_Missense_Mutation_p.D267N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	267	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTAACTTCATCATATGTGAGA	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													136	145	142					3																	105464807		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.799G>A	3.37:g.105464807C>T	ENSP00000264122:p.Asp267Asn		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.D267N	ENST00000264122.4	37	c.799	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.186129	0.94885	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	6.08	6.08	0.98989	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.92270	0.5824	10	0.87932	D	0	-22.4814	20.6634	0.99662	0.0:1.0:0.0:0.0	.	289;267;267	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	267;289;267;267	ENSP00000264122:D267N;ENSP00000377595:D289N;ENSP00000384816:D267N;ENSP00000384938:D267N	ENSP00000264122:D267N	D	-	1	0	CBLB	106947497	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	7.793000	0.85851	2.894000	0.99253	0.655000	0.94253	GAT	CBLB	-	pfam_Adaptor_Cbl_SH2-like		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105464807	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105464807	C	T	105464807	3	4	18	1	0	0	0	0	1	0	0	0	2706	826	29	1	2205	1	CBLB	3	105464807	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		105464807	92557623	9	2728										
C3orf15	89876	genome.wustl.edu	37	chr3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgctggctgagcgccagcggCgggtacgagaggctgaagag	19	9	0	4	rs139653997	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	444						mitochondrion (GO:0005739)		p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587																																																	1	Substitution - Missense(1)	lung(1)						C	TRP/ARG	0,4406		0,0,2203	75	71	72		1822	-1.9	1	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	608/768	119462963	1,13005	2203	4300	6503	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1822C>T	3.37:g.119462963C>T	ENSP00000273390:p.Arg608Trp		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.R608W	ENST00000273390.5	37	c.1822	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220628	0.79464	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.27104	1.69	5.65	-1.85	0.07784	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.51317	-0.8721	10	0.66056	D	0.02	-12.1187	17.4717	0.87647	0.5747:0.4253:0.0:0.0	.	444;546;608	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	W	608	ENSP00000273390:R608W	ENSP00000273390:R608W	R	+	1	2	C3orf15	120945653	0.989000	0.36119	0.974000	0.42286	0.852000	0.48524	1.072000	0.30678	-0.312000	0.08741	-0.516000	0.04426	CGG	MAATS1	-	NULL		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	C	NM_033364		119462963	1	no_errors	ENST00000273390	ensembl	human	known	70_37	missense	SNP	0.968	T	T	119462963	C	T	119462963	3	4	18	1	0	0	0	0	1	0	0	0	2214	759	27	2	1876	2	C3orf15	3	119462963	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	13998156	119462963	78559467	10	2729										
GK5	256356	genome.wustl.edu	37	chr3	141900366	141900366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	attgctttcagctaagcataCgacttcttgcccaatcttcc	5	13	3	0	rs377316725		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr3:141900366C>T	ENST00000392993.2	-	11	1136	c.985G>A	c.(985-987)Gta>Ata	p.V329I		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	329					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GCTAAGCATACGACTTCTTGC	0.383																																																	0								C	ILE/VAL	0,4406		0,0,2203	115	108	110		985	4.9	0.6	3		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	GK5	NM_001039547.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	329/530	141900366	1,13005	2203	4300	6503	SO:0001583	missense	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.985G>A	3.37:g.141900366C>T	ENSP00000418001:p.Val329Ile		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.V329I	ENST00000392993.2	37	c.985	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762490	0.49574	0.0	1.16E-4	ENSG00000175066	ENST00000392993	D	0.90133	-2.62	4.93	4.93	0.64822	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.45422	1.42	0.80722	D	1	B	0.27416	0.178	B	0.24394	0.053	D	0.83788	0.0229	10	0.48119	T	0.1	-19.0821	11.5746	0.50854	0.0:0.912:0.0:0.088	.	329	Q6ZS86	GLPK5_HUMAN	I	329	ENSP00000418001:V329I	ENSP00000418001:V329I	V	-	1	0	GK5	143383056	1.000000	0.71417	0.575000	0.28536	0.993000	0.82548	4.005000	0.57075	2.415000	0.81967	0.591000	0.81541	GTA	GK5	-	pfam_Carb_kinase_FGGY_C		0.383	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141900366	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141900366	C	T	141900366	3	4	18	1	0	0	0	0	1	0	0	0	6441	536	19	2	628	2	GK5	3	141900366	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	22437403	141900366	56122064	11	2730										
OTOP1	133060	genome.wustl.edu	37	chr4	4228450	4228450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgggacgctggcgcgcacacCgccccgccggggggccgggg	20	16	0	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:4228450C>T	ENST00000296358.4	-	1	166	c.142G>A	c.(142-144)Ggt>Agt	p.G48S		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	48					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGCGCACAccgccccgccgg	0.736																																																	0													5	5	5					4																	4228450		2074	4051	6125	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.142G>A	4.37:g.4228450C>T	ENSP00000296358:p.Gly48Ser		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.G48S	ENST00000296358.4	37	c.142	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008630	0.35415	.	.	ENSG00000163982	ENST00000296358	T	0.07444	3.19	3.92	-1.9	0.07665	.	0.754957	0.11525	U	0.555300	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43653	-0.9378	10	0.05959	T	0.93	.	0.3855	0.00402	0.2685:0.3197:0.1544:0.2574	.	48	Q7RTM1	OTOP1_HUMAN	S	48	ENSP00000296358:G48S	ENSP00000296358:G48S	G	-	1	0	OTOP1	4279351	0.666000	0.27475	0.002000	0.10522	0.071000	0.16799	0.311000	0.19380	-0.156000	0.11079	0.430000	0.28490	GGT	OTOP1	-	NULL		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	C	NM_177998		4228450	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4228450	C	T	4228450	3	4	18	1	0	0	0	0	1	0	0	0	11329	652	23	2	1720	2	OTOP1	4	4228450	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		4228450	186925826	12	2731										
BOD1L	259282	genome.wustl.edu	37	chr4	13600774	13600774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gtaagtagctggagggatcaTtgtgtgggaaggagcaattt	16	3	1	0	rs555601532|rs533419431		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:13600774T>C	ENST00000040738.5	-	10	7885	c.7750A>G	c.(7750-7752)Atg>Gtg	p.M2584V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2584						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGAGGGATCATTGTGTGGGAA	0.438													T|||	1	0.000199681	8e-04	0	5008	,	,		20823	0		0	False		,,,				2504	0																0													151	137	142					4																	13600774		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7750A>G	4.37:g.13600774T>C	ENSP00000040738:p.Met2584Val		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.M2584V	ENST00000040738.5	37	c.7750	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	6.223	0.409293	0.11812	.	.	ENSG00000038219	ENST00000040738	T	0.06218	3.33	5.1	-10.2	0.00374	.	2.995770	0.01246	N	0.008749	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.27785	T	0.31	.	3.882	0.09082	0.1914:0.1676:0.0871:0.5538	.	2584	Q8NFC6	BOD1L_HUMAN	V	2584	ENSP00000040738:M2584V	ENSP00000040738:M2584V	M	-	1	0	BOD1L	13209872	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.085000	0.11250	-2.402000	0.00577	-1.161000	0.01788	ATG	BOD1L1	-	NULL		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	T	NM_148894		13600774	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.000	C	C	13600774	T	C	13600774	3	2	18	1	0	0	0	0	1	0	0	0	1484	1493	52	5	1473	5	BOD1L	4	13600774	Missense_Mutation	SNP	T	TCGA-C5-A1M9-01A-11D-A13W-08	9372324	13600774	177553502	13	2732										
DSPP	1834	genome.wustl.edu	37	chr4	88537513	88537513	+	Missense_Mutation	SNP	A	A	C													0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gacagcagtgacagcaatgaAagcagcgacagcagtgacag					rs112275895		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:88537513A>C	ENST00000282478.7	+	4	3732	c.3699A>C	c.(3697-3699)gaA>gaC	p.E1233D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.E1233D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1233	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcaatgaaagcagcgaca	0.547																																																	0																																										SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3699A>C	4.37:g.88537513A>C	ENSP00000282478:p.Glu1233Asp		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.E1233D	ENST00000282478.7	37	c.3699	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.785366	0.00628	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	2.61	-5.21	0.02815	.	.	.	.	.	T	0.57213	0.2038	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57347	-0.7827	9	0.02654	T	1	.	0.7125	0.00926	0.2623:0.1881:0.1298:0.4197	.	1233	Q9NZW4	DSPP_HUMAN	D	1233	ENSP00000382213:E1233D;ENSP00000282478:E1233D	ENSP00000282478:E1233D	E	+	3	2	DSPP	88756537	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-2.769000	0.00780	-2.252000	0.00699	-3.496000	0.00033	GAA	DSPP	-	NULL		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	A	NM_014208		88537513	1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.000	C	C	88537513	A	C	88537513	3	2	18	1	0	0	0	0	1	0	0	0	4792	11	1	5	3713	5	DSPP	4	88537513	Missense_Mutation	SNP	A	TCGA-C5-A1M9-01A-11D-A13W-08	74936739	88537513	102616763	14	2733	14	2								
DSPP	1834	genome.wustl.edu	37	chr4	88537522	88537522	+	Silent	SNP	C	C	T													0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gacagcaatgaaagcagcgaCagcagtgacagcagcgatag					rs111884410		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:88537522C>T	ENST00000282478.7	+	4	3741	c.3708C>T	c.(3706-3708)gaC>gaT	p.D1236D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1236D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1236	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		aaagcagcgacagcagtgaca	0.537																																																	0													73	88	82					4																	88537522		1653	2956	4609	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3708C>T	4.37:g.88537522C>T			A8MUI0|O95815	Silent	SNP	NULL	p.D1236	ENST00000282478.7	37	c.3708	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	C	NM_014208		88537522	1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.991	T	T	88537522	C	T	88537522	2	4	18	1	0	0	0	0	0	0	0	1	4792	477	17	4		4	DSPP	4	88537522	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	9	88537522	102616754	15	2734	14	2								
PDHA2	5161	genome.wustl.edu	37	chr4	96762017	96762017	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gagagcagcagccagccctgAttactacaagaggggcaatt	12	10	0	3			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:96762017A>T	ENST00000295266.4	+	1	779	c.716A>T	c.(715-717)gAt>gTt	p.D239V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	239					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCCAGCCCTGATTACTACAAG	0.423																																																	0													111	116	114					4																	96762017		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.716A>T	4.37:g.96762017A>T	ENSP00000295266:p.Asp239Val		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.D239V	ENST00000295266.4	37	c.716	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608306	0.66558	.	.	ENSG00000163114	ENST00000295266	D	0.95949	-3.86	4.81	4.81	0.61882	Dehydrogenase, E1 component (1);	0.049285	0.85682	D	0.000000	D	0.97210	0.9088	M	0.80982	2.52	0.80722	D	1	D	0.61697	0.99	D	0.66196	0.942	D	0.97654	1.0156	10	0.87932	D	0	-17.4952	12.6466	0.56738	1.0:0.0:0.0:0.0	.	239	P29803	ODPAT_HUMAN	V	239	ENSP00000295266:D239V	ENSP00000295266:D239V	D	+	2	0	PDHA2	96981040	1.000000	0.71417	0.205000	0.23548	0.838000	0.47535	8.374000	0.90133	2.160000	0.67779	0.383000	0.25322	GAT	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	A			96762017	1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96762017	A	T	96762017	3	4	18	1	0	0	0	0	1	0	0	0	11689	333	12	5	718	5	PDHA2	4	96762017	Missense_Mutation	SNP	A	TCGA-C5-A1M9-01A-11D-A13W-08	8224495	96762017	94392259	16	2735										
PRDM5	11107	genome.wustl.edu	37	chr4	121774626	121774626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tggtgcctcatgaacgaagcGaagccagttggagtgccgtg	15	9	1	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:121774626G>A	ENST00000264808.3	-	3	487	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	PRDM5_ENST00000428209.2_Missense_Mutation_p.R83C|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83C|PRDM5_ENST00000394435.2_Missense_Mutation_p.R83C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	83	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACGAAGCGAAGCCAGTTG	0.468																																																	0													302	300	301					4																	121774626		2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.247C>T	4.37:g.121774626G>A	ENSP00000264808:p.Arg83Cys		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.R83C	ENST00000264808.3	37	c.247	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.488343	0.96323	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.52	5.52	0.82312	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.67625	2.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.85130	0.993;0.997;0.855;0.993	D	0.87937	0.2714	10	0.72032	D	0.01	-13.6783	18.5703	0.91133	0.0:0.0:1.0:0.0	.	83;83;83;83	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	C	83	ENSP00000264808:R83C;ENSP00000422309:R83C;ENSP00000404832:R83C;ENSP00000377955:R83C	ENSP00000264808:R83C	R	-	1	0	PRDM5	121994076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.928000	0.75846	2.751000	0.94390	0.650000	0.86243	CGC	PRDM5	-	smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom		0.468	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121774626	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121774626	G	A	121774626	3	1	18	1	0	0	0	0	1	0	0	0	12487	1058	37	1	1701	1	PRDM5	4	121774626	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	25012609	121774626	69379650	17	2736										
FBXW7	55294	genome.wustl.edu	37	chr4	153245393	153245393	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ccagattttaactgtagaatCtgcattcccagagacaagaa	7	9	1	4			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr4:153245393C>T	ENST00000281708.4	-	11	3027	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FBXW7_ENST00000603548.1_Missense_Mutation_p.D600N|FBXW7_ENST00000263981.5_Missense_Mutation_p.D520N|FBXW7_ENST00000603841.1_Missense_Mutation_p.D600N|FBXW7_ENST00000296555.5_Missense_Mutation_p.D482N|FBXW7_ENST00000393956.3_Missense_Mutation_p.D424N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	600					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D600Y(2)|p.D520Y(1)|p.D361Y(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTAGAATCTGCATTCCCA	0.388			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)											125	116	119					4																	153245393		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1798G>A	4.37:g.153245393C>T	ENSP00000281708:p.Asp600Asn		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D600N	ENST00000281708.4	37	c.1798	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.413587	0.96072	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96525	0.9388	10	0.87932	D	0	-19.794	19.2767	0.94034	0.0:1.0:0.0:0.0	.	424;600;482;520	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	600;482;520;424	ENSP00000281708:D600N;ENSP00000296555:D482N;ENSP00000263981:D520N;ENSP00000377528:D424N	ENSP00000263981:D520N	D	-	1	0	FBXW7	153464843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	GAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153245393	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153245393	C	T	153245393	3	4	18	1	0	0	0	0	1	0	0	0	5787	913	32	1	333	1	FBXW7	4	153245393	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	31470767	153245393	37908883	18	2737										
OPRM1	26034	genome.wustl.edu	37	chr6	154567919	154567919	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	aatgattacatgaagaggtaGataatgtattaccctgattt	8	4	0	5			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr6:154567919G>C	ENST00000265198.4	-	5	229				OPRM1_ENST00000337049.4_Nonstop_Mutation_p.*419Y|IPCEF1_ENST00000519344.1_Intron|IPCEF1_ENST00000422970.2_Intron|IPCEF1_ENST00000367220.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1						oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGAAGAGGTAGATAATGTATT	0.428																																																	0													69	63	65					6																	154567919		2203	4300	6503	SO:0001627	intron_variant	4988			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.74-25C>G	6.37:g.154567919G>C			A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Nonstop_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt,prints_Galanin_rcpt	p.*419Y	ENST00000265198.4	37	c.1257	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.878911	0.00537	.	.	ENSG00000112038	ENST00000337049	.	.	.	2.88	-4.28	0.03732	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4595	0.02392	0.2886:0.2496:0.3357:0.1261	.	.	.	.	Y	419	.	.	X	+	3	2	OPRM1	154609611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.958000	0.03857	-1.708000	0.01401	-1.164000	0.01763	TAG	OPRM1	-	NULL		0.428	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042789.2	G	NM_001130699		154567919	1	no_errors	ENST00000337049	ensembl	human	known	70_37	nonstop	SNP	0.000	C	C	154567919	G	C	154567919	1	2	18	0	1	0	0	0	0	0	0	0	10911	937	33	1		1	OPRM1	6	154567919	Intron	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		154567919	16547148	19	2738										
UNCX	340260	genome.wustl.edu	37	chr7	1275967	1275967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	cgggccaggggccgctgtggCggcggtggagcgcggcgccg	23	13	0	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:1275967C>T	ENST00000316333.8	+	3	1061	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	317	Ala/Pro-rich.				cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCGCTGTGGCGGCGGTGGAG	0.756																																																	0													1	1	1					7																	1275967		257	616	873	SO:0001583	missense	340260				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.950C>T	7.37:g.1275967C>T	ENSP00000314480:p.Ala317Val		A4D221	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A317V	ENST00000316333.8	37	c.950	CCDS34583.1	7	.	.	.	.	.	.	.	.	.	.	C	0.639	-0.813928	0.02798	.	.	ENSG00000164853	ENST00000316333	D	0.90444	-2.67	2.49	0.582	0.17412	.	.	.	.	.	T	0.77075	0.4077	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63800	-0.6555	9	0.36615	T	0.2	.	4.8165	0.13369	0.0:0.4261:0.4374:0.1365	.	317	A6NJT0	UNC4_HUMAN	V	317	ENSP00000314480:A317V	ENSP00000314480:A317V	A	+	2	0	UNCX	1242493	0.016000	0.18221	0.004000	0.12327	0.003000	0.03518	0.491000	0.22419	0.147000	0.19030	-0.748000	0.03510	GCG	UNCX	-	NULL		0.756	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	C	NM_001080461		1275967	1	no_errors	ENST00000316333	ensembl	human	known	70_37	missense	SNP	0.009	T	T	1275967	C	T	1275967	3	4	18	1	0	0	0	0	1	0	0	0	17029	768	27	2	960	2	UNCX	7	1275967	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		1275967	157862696	20	2739										
PAPOLB	56903	genome.wustl.edu	37	chr7	4901303	4901303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gaagaccccgaagggcctgaGggtttctattagcctctggg	14	10	2	2			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:4901303G>A	ENST00000404991.1	-	1	322	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGGCCTGAGGGTTTCTATT	0.542																																																	0													21	22	22					7																	4901303		1928	4149	6077	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.136C>T	7.37:g.4901303G>A	ENSP00000384700:p.Leu46Phe		Q75LH1|Q8NE14	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.L46F	ENST00000404991.1	37	c.136		7	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471496	0.26423	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.24	0.37175	.	.	.	.	.	T	0.77909	0.4201	M	0.94142	3.5	0.48571	D	0.999671	D	0.56035	0.974	P	0.57679	0.825	T	0.79361	-0.1835	8	0.87932	D	0	.	5.2644	0.15591	0.1021:0.0:0.6939:0.204	.	47	A4D1Z6	.	F	46	.	ENSP00000384700:L46F	L	-	1	0	PAPOLB	4867829	1.000000	0.71417	0.847000	0.33407	0.053000	0.15095	2.812000	0.47994	1.322000	0.45245	0.655000	0.94253	CTC	PAPOLB	-	pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase		0.542	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	G	NM_020144		4901303	-1	no_errors	ENST00000404991	ensembl	human	known	70_37	missense	SNP	0.962	A	A	4901303	G	A	4901303	3	1	18	1	0	0	0	0	1	0	0	0	11454	1000	35	4	1778	4	PAPOLB	7	4901303	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	3625336	4901303	154237360	21	2740										
MLXIPL	51085	genome.wustl.edu	37	chr7	73010041	73010041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gtctcgcatctggtcaaaacGctggtgtgtgatgggtaccc	13	10	3	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:73010041G>A	ENST00000313375.3	-	15	2283	c.2236C>T	c.(2236-2238)Cgt>Tgt	p.R746C	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R744C|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R653C|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R725C|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R727C|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R652C	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	746					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGTCAAAACGCTGGTGTGTG	0.632																																																	0													114	104	107					7																	73010041		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2236C>T	7.37:g.73010041G>A	ENSP00000320886:p.Arg746Cys		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R746C	ENST00000313375.3	37	c.2236	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330985	0.81690	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.27890	2.25;2.31;2.26;2.3;1.66;1.64	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.72353	2.195	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.982;0.995;0.996;0.996	T	0.59402	-0.7461	10	0.87932	D	0	-17.6366	13.8778	0.63665	0.0:0.0:1.0:0.0	.	653;746;727;744;725	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	C	744;727;746;725;653;652	ENSP00000412330:R744C;ENSP00000406296:R727C;ENSP00000320886:R746C;ENSP00000346629:R725C;ENSP00000378616:R653C;ENSP00000392636:R652C	ENSP00000320886:R746C	R	-	1	0	MLXIPL	72647977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.369000	0.66138	2.109000	0.64355	0.456000	0.33151	CGT	MLXIPL	-	NULL		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73010041	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73010041	G	A	73010041	3	1	18	1	0	0	0	0	1	0	0	0	9660	1087	38	2	334	2	MLXIPL	7	73010041	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	68108738	73010041	86128622	22	2741										
COL1A2	1278	genome.wustl.edu	37	chr7	94052321	94052321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgctgggaaagaagggcttcGtggtcctcgtggtgaccaag	16	8	0	2			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:94052321G>A	ENST00000297268.6	+	40	2927	c.2456G>A	c.(2455-2457)cGt>cAt	p.R819H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	819			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAAGGGCTTCGTGGTCCTCGT	0.562										HNSCC(75;0.22)																																							0													162	154	156					7																	94052321		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2456G>A	7.37:g.94052321G>A	ENSP00000297268:p.Arg819His		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.R819H	ENST00000297268.6	37	c.2456	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	30	5.052419	0.93793	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93366	-3.21	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.55213	1.73	0.58432	D	0.999996	D	0.76494	0.999	D	0.70227	0.968	D	0.95959	0.8960	10	0.66056	D	0.02	.	18.8488	0.92218	0.0:0.0:1.0:0.0	.	819	P08123	CO1A2_HUMAN	H	819;820	ENSP00000297268:R819H	ENSP00000297268:R819H	R	+	2	0	COL1A2	93890257	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	4.820000	0.62671	2.538000	0.85594	0.563000	0.77884	CGT	COL1A2	-	NULL		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	G	NM_000089		94052321	1	no_errors	ENST00000297268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94052321	G	A	94052321	3	1	18	1	0	0	0	0	1	0	0	0	3683	1145	40	2	2614	2	COL1A2	7	94052321	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	21042280	94052321	65086342	23	2742										
EZH2	2146	genome.wustl.edu	37	chr7	148515119	148515119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gggcctgctactgttattggGaagccgtcctcttctgcggc	13	12	2	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:148515119G>A	ENST00000460911.1	-	10	1163	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	EZH2_ENST00000478654.1_Missense_Mutation_p.P350S|RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000476773.1_Missense_Mutation_p.P350S|EZH2_ENST00000320356.2_Missense_Mutation_p.P364S|EZH2_ENST00000483967.1_Missense_Mutation_p.P350S|EZH2_ENST00000541220.1_Missense_Mutation_p.P350S|EZH2_ENST00000350995.2_Missense_Mutation_p.P320S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	359	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTGTTATTGGGAAGCCGTCCT	0.547			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													130	119	123					7																	148515119		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1075C>T	7.37:g.148515119G>A	ENSP00000419711:p.Pro359Ser		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.P364S	ENST00000460911.1	37	c.1090	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	g	15.01	2.706340	0.48412	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.78	5.78	0.91487	.	0.056664	0.64402	D	0.000001	D	0.84275	0.5436	L	0.40543	1.245	0.80722	D	1	D;B;B;B;B;B	0.89917	1.0;0.203;0.012;0.129;0.203;0.313	D;B;B;B;B;B	0.83275	0.996;0.098;0.015;0.071;0.149;0.178	T	0.76586	-0.2905	10	0.02654	T	1	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	359;350;350;359;320;364	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	350;364;359;320;350;350;350	ENSP00000417062:P350S;ENSP00000320147:P364S;ENSP00000419711:P359S;ENSP00000223193:P320S;ENSP00000443219:P350S;ENSP00000419050:P350S;ENSP00000419856:P350S	ENSP00000320147:P364S	P	-	1	0	EZH2	148146052	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	7.200000	0.77838	2.724000	0.93272	0.563000	0.77884	CCC	EZH2	-	NULL		0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	G	NM_004456		148515119	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148515119	G	A	148515119	3	1	18	1	0	0	0	0	1	0	0	0	5346	1174	41	1	1209	1	EZH2	7	148515119	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	54462798	148515119	10623544	24	2743										
ZNF777	27153	genome.wustl.edu	37	chr7	149129368	149129368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ctcttcttgcactcggggcaCgtgtagggccgctcacccgt	12	15	3	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr7:149129368C>T	ENST00000247930.4	-	6	2318	c.1995G>A	c.(1993-1995)acG>acA	p.T665T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTCGGGGCACGTGTAGGGCC	0.612																																																	0													84	97	92					7																	149129368		2184	4293	6477	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1995G>A	7.37:g.149129368C>T			Q8N2R2|Q8N659	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T665	ENST00000247930.4	37	c.1995	CCDS43675.1	7																																																																																			ZNF777	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	C	NM_015694		149129368	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	silent	SNP	0.996	T	T	149129368	C	T	149129368	2	4	18	1	0	0	0	0	0	0	0	1	18180	523	19	2		2	ZNF777	7	149129368	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	614249	149129368	10009295	25	2744										
SPAG1	6674	genome.wustl.edu	37	chr8	101174635	101174635	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ttaaacatctggaaaaaattCtttgcgtgctcaggtaagca	8	7	3	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:101174635C>A	ENST00000388798.2	+	2	318	c.127C>A	c.(127-129)Ctt>Att	p.L43I	SPAG1_ENST00000251809.3_Missense_Mutation_p.L43I|SPAG1_ENST00000520508.1_Missense_Mutation_p.L43I|SPAG1_ENST00000520643.1_Missense_Mutation_p.L43I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	43					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAAAAATTCTTTGCGTGCT	0.299																																																	0													27	27	27					8																	101174635		2202	4292	6494	SO:0001583	missense	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.127C>A	8.37:g.101174635C>A	ENSP00000373450:p.Leu43Ile		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L43I	ENST00000388798.2	37	c.127	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137101	0.37728	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.66995	2.7;-0.24;2.7;-0.24	5.82	2.85	0.33270	.	1.623080	0.03152	N	0.168087	T	0.63165	0.2488	L	0.56769	1.78	0.34127	D	0.664807	P;P	0.45957	0.686;0.869	B;B	0.41510	0.173;0.359	T	0.58907	-0.7553	10	0.30854	T	0.27	-1.8262	4.6365	0.12527	0.1504:0.593:0.0:0.2565	.	43;43	Q07617;G3XAM3	SPAG1_HUMAN;.	I	43	ENSP00000427716:L43I;ENSP00000251809:L43I;ENSP00000428070:L43I;ENSP00000373450:L43I	ENSP00000251809:L43I	L	+	1	0	SPAG1	101243811	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	0.946000	0.29069	0.737000	0.32582	0.563000	0.77884	CTT	SPAG1	-	NULL		0.299	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	C	NM_172218		101174635	1	no_errors	ENST00000251809	ensembl	human	known	70_37	missense	SNP	0.977	A	A	101174635	C	A	101174635	3	1	18	1	0	0	0	0	1	0	0	0	15005	913	32	3	129	3	SPAG1	8	101174635	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		101174635	45189387	26	2745										
RHPN1	114822	genome.wustl.edu	37	chr8	144463474	144463474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gccagaggccaggatgccacGcctgtcccaggggaaggggc	17	13	0	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr8:144463474G>A	ENST00000289013.6	+	12	1549	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	508					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGGATGCCACGCCTGTCCCAG	0.627																																																	0													45	51	49					8																	144463474		2110	4223	6333	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1448G>A	8.37:g.144463474G>A	ENSP00000289013:p.Arg483His		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.R483H	ENST00000289013.6	37	c.1448	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405483	0.25378	.	.	ENSG00000158106	ENST00000289013	T	0.17528	2.27	4.83	2.98	0.34508	.	0.531595	0.20787	N	0.085689	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999999	P	0.38473	0.633	B	0.37943	0.261	T	0.14254	-1.0479	10	0.66056	D	0.02	-10.7756	6.0299	0.19675	0.1463:0.0:0.6932:0.1605	.	483	Q8TCX5-2	.	H	483	ENSP00000289013:R483H	ENSP00000289013:R483H	R	+	2	0	RHPN1	144534617	0.962000	0.33011	0.400000	0.26346	0.195000	0.23768	1.651000	0.37302	2.228000	0.72767	0.456000	0.33151	CGC	RHPN1	-	pfam_BRO1_dom		0.627	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	G			144463474	1	no_errors	ENST00000289013	ensembl	human	known	70_37	missense	SNP	0.531	A	A	144463474	G	A	144463474	3	1	18	1	0	0	0	0	1	0	0	0	13380	1087	38	2	1494	2	RHPN1	8	144463474	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	43288839	144463474	1900548	27	2746										
KANK1	23189	genome.wustl.edu	37	chr9	731209	731209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	catcatgaagaagaaagatgGtaacaaagattcaaatggcg	10	5	2	5			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:731209G>A	ENST00000382303.1	+	9	3600	c.2948G>A	c.(2947-2949)gGt>gAt	p.G983D	KANK1_ENST00000382297.2_Missense_Mutation_p.G983D|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.G825D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	983	Nuclear localization signal 2 (NLS 2).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAGAAAGATGGTAACAAAGAT	0.378																																																	0													141	126	131					9																	731209		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2948G>A	9.37:g.731209G>A	ENSP00000371740:p.Gly983Asp		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G983D	ENST00000382303.1	37	c.2948	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942253	0.73672	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	T;T;T	0.16324	2.35;2.35;2.35	5.62	3.77	0.43336	.	0.110980	0.40469	N	0.001099	T	0.25827	0.0629	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	P	0.56823	0.807	T	0.01081	-1.1458	10	0.39692	T	0.17	.	8.0144	0.30372	0.1393:0.1399:0.7208:0.0	.	983	Q14678	KANK1_HUMAN	D	983;6;983;825	ENSP00000371740:G983D;ENSP00000371734:G983D;ENSP00000371730:G825D	ENSP00000371730:G825D	G	+	2	0	KANK1	721209	1.000000	0.71417	0.434000	0.26772	0.976000	0.68499	4.760000	0.62235	0.824000	0.34613	0.650000	0.86243	GGT	KANK1	-	smart_Ankyrin_rpt		0.378	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		731209	1	no_errors	ENST00000382297	ensembl	human	known	70_37	missense	SNP	1.000	A	A	731209	G	A	731209	3	1	18	1	0	0	0	0	1	0	0	0	7996	1261	44	4	2962	4	KANK1	9	731209	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		731209	140482222	28	2747										
PTAR1	375743	genome.wustl.edu	37	chr9	72365756	72365756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ggagcttgttgtggacatatGgtaaaaggaacttgacacac	12	6	0	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:72365756G>C	ENST00000340434.4	-	2	200	c.197C>G	c.(196-198)cCa>cGa	p.P66R	PTAR1_ENST00000377200.5_Intron	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	66					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGGACATATGGTAAAAGGAA	0.428																																																	0													117	111	113					9																	72365756		1921	4128	6049	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.197C>G	9.37:g.72365756G>C	ENSP00000344299:p.Pro66Arg		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.P66R	ENST00000340434.4	37	c.197	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483052	0.63962	.	.	ENSG00000188647	ENST00000340434	T	0.39056	1.1	5.8	5.8	0.92144	Protein prenyltransferase (1);	.	.	.	.	T	0.56804	0.2010	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.41016	-0.9532	9	0.13470	T	0.59	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	66	Q7Z6K3	PTAR1_HUMAN	R	66	ENSP00000344299:P66R	ENSP00000344299:P66R	P	-	2	0	PTAR1	71555576	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	9.869000	0.99810	2.733000	0.93635	0.650000	0.86243	CCA	PTAR1	-	NULL		0.428	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	G	NM_001099666		72365756	-1	no_errors	ENST00000340434	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72365756	G	C	72365756	3	2	18	1	0	0	0	0	1	0	0	0	12751	1348	47	4	1039	4	PTAR1	9	72365756	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	71634547	72365756	68847675	29	2748										
PRUNE2	158471	genome.wustl.edu	37	chr9	79465412	79465412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgctgccaacaagtgttatcGataacttcccttcatcattt	5	11	2	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr9:79465412G>A	ENST00000376718.3	-	3	434	c.311C>T	c.(310-312)tCg>tTg	p.S104L	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S104L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	104					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGTGTTATCGATAACTTCCC	0.423																																																	0													128	122	124					9																	79465412		2203	4300	6503	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.311C>T	9.37:g.79465412G>A	ENSP00000365908:p.Ser104Leu		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S104L	ENST00000376718.3	37	c.311	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496919	0.26861	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15372	2.43;2.43	5.78	4.88	0.63580	.	0.418302	0.24713	N	0.036216	T	0.15825	0.0381	L	0.39397	1.21	0.80722	D	1	D;B	0.63046	0.992;0.123	P;B	0.44422	0.449;0.005	T	0.00666	-1.1619	10	0.36615	T	0.2	.	10.4638	0.44596	0.1439:0.0:0.8561:0.0	.	104;104	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	L	104;103;104	ENSP00000365908:S104L;ENSP00000365903:S104L	ENSP00000365903:S104L	S	-	2	0	PRUNE2	78655232	1.000000	0.71417	0.860000	0.33809	0.161000	0.22273	4.284000	0.58983	2.730000	0.93505	0.650000	0.86243	TCG	PRUNE2	-	NULL		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79465412	-1	no_errors	ENST00000376718	ensembl	human	novel	70_37	missense	SNP	0.922	A	A	79465412	G	A	79465412	3	1	18	1	0	0	0	0	1	0	0	0	12668	1059	37	1	9023	1	PRUNE2	9	79465412	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	7099656	79465412	61748019	30	2749										
CTNNA3	29119	genome.wustl.edu	37	chr10	68280427	68280427	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	atgtcatctacggcttcagtGaggacatgtatatgattctc	9	8	4	2			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:68280427G>A	ENST00000433211.2	-	11	1653	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CTNNA3_ENST00000373744.4_Silent_p.L493L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGGCTTCAGTGAGGACATGTA	0.368																																																	0													188	164	172					10																	68280427		2203	4300	6503	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1479C>T	10.37:g.68280427G>A				Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L493	ENST00000433211.2	37	c.1479	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68280427	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68280427	G	A	68280427	2	1	18	1	0	0	0	0	0	0	0	1	4019	1277	45	1		1	CTNNA3	10	68280427	Silent	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		68280427	67254320	31	2750										
PAOX	196743	genome.wustl.edu	37	chr10	135193640	135193640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	agctggtggagaccgggggtCacgtgggcctgccctccgtg	18	12	1	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr10:135193640C>T	ENST00000278060.5	+	2	402	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	PAOX_ENST00000480071.2_Missense_Mutation_p.H107Y|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.H107Y	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	245					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACCGGGGGTCACGTGGGCCT	0.677																																																	0													27	29	28					10																	135193640		2191	4295	6486	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.319C>T	10.37:g.135193640C>T	ENSP00000278060:p.His107Tyr		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.H107Y	ENST00000278060.5	37	c.319	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903884	0.72754	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92299	-3.01;-3.01;-3.01	4.88	4.88	0.63580	.	0.128218	0.51477	D	0.000083	D	0.93585	0.7952	L	0.43598	1.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.982;0.987;0.982	D	0.91857	0.5496	10	0.24483	T	0.36	-29.5562	15.5336	0.75983	0.0:1.0:0.0:0.0	.	107;107;107	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Y	107	ENSP00000278060:H107Y;ENSP00000349847:H107Y;ENSP00000435514:H107Y	ENSP00000278060:H107Y	H	+	1	0	PAOX	135043630	0.976000	0.34144	0.855000	0.33649	0.477000	0.33069	3.058000	0.49939	2.258000	0.74832	0.563000	0.77884	CAC	PAOX	-	pfam_Amino_oxidase		0.677	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	C	NM_152911		135193640	1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135193640	C	T	135193640	3	4	18	1	0	0	0	0	1	0	0	0	11447	826	29	1	325	1	PAOX	10	135193640	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	66913213	135193640	341107	32	2751										
SLC22A8	9376	genome.wustl.edu	37	chr11	62762218	62762218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	caaactatagtaggcaaaacCggtagcaaacctgagaggca	10	9	0	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:62762218C>T	ENST00000336232.2	-	8	1147	c.1012G>A	c.(1012-1014)Ggt>Agt	p.G338S	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G338S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G215S|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G247S|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G338S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	338					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TAGGCAAAACCGGTAGCAAAC	0.517																																																	0													107	85	92					11																	62762218		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1012G>A	11.37:g.62762218C>T	ENSP00000337335:p.Gly338Ser		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G338S	ENST00000336232.2	37	c.1012	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376687	0.11466	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.23	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047513	0.85682	D	0.000000	T	0.64832	0.2634	N	0.02708	-0.52	0.25502	N	0.987544	P;P	0.36125	0.482;0.538	B;B	0.37091	0.155;0.241	T	0.63629	-0.6594	10	0.02654	T	1	.	7.0407	0.25019	0.0:0.8139:0.0:0.1861	.	338;338	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	S	338;324;247;215;338;338	ENSP00000337335:G338S;ENSP00000441658:G247S;ENSP00000443368:G215S;ENSP00000311463:G338S;ENSP00000398548:G338S	ENSP00000311463:G338S	G	-	1	0	SLC22A8	62518794	0.961000	0.32948	0.665000	0.29768	0.989000	0.77384	2.953000	0.49105	2.443000	0.82685	0.561000	0.74099	GGT	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.517	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	C	NM_004254		62762218	-1	no_errors	ENST00000336232	ensembl	human	known	70_37	missense	SNP	0.438	T	T	62762218	C	T	62762218	3	4	18	1	0	0	0	0	1	0	0	0	14490	652	23	2	632	2	SLC22A8	11	62762218	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		62762218	72244298	33	2752										
THY1	7070	genome.wustl.edu	37	chr11	119290224	119290224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgatgccctcacacttgaccAgtttgtctgcagaaagagaa	9	10	2	4	rs147718110		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr11:119290224A>C	ENST00000284240.5	-	4	1419	c.380T>G	c.(379-381)cTg>cGg	p.L127R	USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000580275.1_Missense_Mutation_p.L110R|THY1_ENST00000528522.1_Missense_Mutation_p.L127R|USP2-AS1_ENST00000500970.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	127					angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		ACACTTGACCAGTTTGTCTGC	0.602																																																	0													51	50	50					11																	119290224		2199	4295	6494	SO:0001583	missense	7070			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.380T>G	11.37:g.119290224A>C	ENSP00000284240:p.Leu127Arg		Q16008|Q9NSP1	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L127R	ENST00000284240.5	37	c.380	CCDS8424.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.20|18.20	3.572113|3.572113	0.65765|0.65765	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524659|ENST00000527590	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72317|0.72317	0.3445|0.3445	M|M	0.74881|0.74881	2.28|2.28	0.46981|0.46981	D|D	0.999279|0.999279	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.73515|0.73515	-0.3958|-0.3958	10|5	0.87932|.	D|.	0|.	-12.3425|-12.3425	12.1582|12.1582	0.54089|0.54089	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	127|.	P04216|.	THY1_HUMAN|.	R|G	127|135	ENSP00000284240:L127R;ENSP00000431301:L127R;ENSP00000435753:L127R|.	ENSP00000284240:L127R|.	L|W	-|-	2|1	0|0	THY1|THY1	118795434|118795434	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.862000|0.862000	0.49288|0.49288	5.453000|5.453000	0.66645|0.66645	1.999000|1.999000	0.58509|0.58509	0.402000|0.402000	0.26972|0.26972	CTG|TGG	THY1	-	NULL		0.602	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THY1	HGNC	protein_coding	OTTHUMT00000388370.2	A	NM_006288		119290224	-1	no_errors	ENST00000284240	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119290224	A	C	119290224	3	2	18	1	0	0	0	0	1	0	0	0	15915	188	7	5	109	5	THY1	11	119290224	Missense_Mutation	SNP	A	TCGA-C5-A1M9-01A-11D-A13W-08	56528006	119290224	15716292	34	2753										
TAS2R19	259294	genome.wustl.edu	37	chr12	11174585	11174585	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	aagagaacagattaacagcaGaaaacatattaggctcagag	9	6	1	4			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:11174585G>C	ENST00000390673.2	-	1	634	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	196					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTAACAGCAGAAAACATATT	0.403																																																	0													149	144	146					12																	11174585		2203	4300	6503	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.586C>G	12.37:g.11174585G>C	ENSP00000375091:p.Leu196Val		Q3MIJ4|Q645X8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L196V	ENST00000390673.2	37	c.586	CCDS8640.1	12	.	.	.	.	.	.	.	.	.	.	a	11.35	1.612198	0.28712	.	.	ENSG00000212124	ENST00000390673	T	0.36699	1.24	2.69	0.544	0.17185	.	0.747586	0.11234	U	0.585364	T	0.43942	0.1270	M	0.72353	2.195	0.09310	N	1	P	0.49185	0.92	P	0.54924	0.764	T	0.36261	-0.9755	10	0.66056	D	0.02	.	1.085	0.01650	0.1511:0.3103:0.3286:0.21	.	196	P59542	T2R19_HUMAN	V	196	ENSP00000375091:L196V	ENSP00000375091:L196V	L	-	1	2	TAS2R19	11065852	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-0.187000	0.09656	0.353000	0.24079	0.405000	0.27470	CTG	TAS2R19	-	pfam_TAS2_rcpt		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1	G	NM_176888		11174585	-1	no_errors	ENST00000390673	ensembl	human	known	70_37	missense	SNP	0.005	C	C	11174585	G	C	11174585	3	2	18	1	0	0	0	0	1	0	0	0	15600	933	33	1	316	1	TAS2R19	12	11174585	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		11174585	122677310	35	2754										
LRP6	4040	genome.wustl.edu	37	chr12	12337018	12337018	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	aacacaaatgggaacaacccCcattgtcaattccacatgga	6	12	1	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:12337018C>G	ENST00000261349.4	-	5	948	c.872G>C	c.(871-873)gGg>gCg	p.G291A	LRP6_ENST00000543091.1_Missense_Mutation_p.G291A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	291	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGAACAACCCCCATTGTCAAT	0.388																																																	0													102	90	94					12																	12337018		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.872G>C	12.37:g.12337018C>G	ENSP00000261349:p.Gly291Ala		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G291A	ENST00000261349.4	37	c.872	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944548	0.92593	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.98329	-4.87;-4.87	5.85	5.85	0.93711	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000007	D	0.99211	0.9726	M	0.91300	3.195	0.80722	D	1	D;P	0.89917	1.0;0.596	D;B	0.85130	0.997;0.285	D	0.99078	1.0836	10	0.46703	T	0.11	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	291;291	F5H7J9;O75581	.;LRP6_HUMAN	A	291	ENSP00000261349:G291A;ENSP00000442472:G291A	ENSP00000261349:G291A	G	-	2	0	LRP6	12228285	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.860000	0.69546	2.773000	0.95371	0.655000	0.94253	GGG	LRP6	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.388	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12337018	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12337018	C	G	12337018	3	3	18	1	0	0	0	0	1	0	0	0	8985	623	22	4	4045	4	LRP6	12	12337018	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	1162433	12337018	121514877	36	2755										
GRASP	160622	genome.wustl.edu	37	chr12	52408588	52408588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ccttcgggcctctgctcgccGtgcccgggcgtccccgcgga	14	19	1	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:52408588G>A	ENST00000293662.4	+	8	873	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.V122M|GRASP_ENST00000552049.1_Missense_Mutation_p.V122M	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	265					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCTGCTCGCCGTGCCCGGGCG	0.751																																																	0													2	3	2					12																	52408588		1554	3116	4670	SO:0001583	missense	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.793G>A	12.37:g.52408588G>A	ENSP00000293662:p.Val265Met		Q6PIF8|Q7Z741	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V265M	ENST00000293662.4	37	c.793	CCDS8817.1	12	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905443	0.52333	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T	0.55588	0.51;0.92	3.36	3.36	0.38483	.	0.242826	0.39274	N	0.001405	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	P;P	0.40660	0.726;0.606	B;B	0.32342	0.144;0.068	T	0.20472	-1.0274	10	0.49607	T	0.09	-6.2621	11.7264	0.51712	0.0:0.0:1.0:0.0	.	122;265	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	M	265;122;135;122	ENSP00000293662:V265M;ENSP00000448476:V135M	ENSP00000293662:V265M	V	+	1	0	GRASP	50694855	0.056000	0.20664	0.004000	0.12327	0.960000	0.62799	2.414000	0.44627	1.708000	0.51301	0.455000	0.32223	GTG	GRASP	-	NULL		0.751	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	G			52408588	1	no_errors	ENST00000293662	ensembl	human	known	70_37	missense	SNP	0.004	A	A	52408588	G	A	52408588	3	1	18	1	0	0	0	0	1	0	0	0	6775	1145	40	2	823	2	GRASP	12	52408588	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	40071570	52408588	81443307	37	2756										
EIF4B	1975	genome.wustl.edu	37	chr12	53421858	53421858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gcagtgggtatcgcagggatGatgactacagaggaggcggg	19	6	0	3			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr12:53421858G>A	ENST00000262056.9	+	8	1191	c.865G>A	c.(865-867)Gat>Aat	p.D289N	EIF4B_ENST00000420463.3_Missense_Mutation_p.D289N|EIF4B_ENST00000416762.3_Missense_Mutation_p.D250N|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	289	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCGCAGGGATGATGACTACAG	0.502																																																	0													79	84	83					12																	53421858		1910	4133	6043	SO:0001583	missense	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.865G>A	12.37:g.53421858G>A	ENSP00000262056:p.Asp289Asn		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D289N	ENST00000262056.9	37	c.865	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657272	0.67586	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.49720	0.79;0.77;0.84;0.8	4.48	4.48	0.54585	.	0.113469	0.56097	D	0.000032	T	0.60534	0.2276	M	0.69823	2.125	0.58432	D	0.999994	D;D;D;D	0.61080	0.987;0.978;0.989;0.978	P;P;P;P	0.54856	0.74;0.554;0.762;0.554	T	0.61441	-0.7062	10	0.35671	T	0.21	.	16.6135	0.84900	0.0:0.0:1.0:0.0	.	250;289;265;289	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	N	289;289;265;250;244;243	ENSP00000262056:D289N;ENSP00000388806:D289N;ENSP00000449746:D244N;ENSP00000450324:D243N	ENSP00000262056:D289N	D	+	1	0	EIF4B	51708125	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.382000	0.66213	2.409000	0.81822	0.655000	0.94253	GAT	EIF4B	-	NULL		0.502	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	G	NM_001417		53421858	1	no_errors	ENST00000262056	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53421858	G	A	53421858	3	1	18	1	0	0	0	0	1	0	0	0	5039	1290	45	1	895	1	EIF4B	12	53421858	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	1013270	53421858	80430037	38	2757										
KLHL1	57626	genome.wustl.edu	37	chr13	70681587	70681587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	aggaagaggaggaagaggacGgggaggacgatgaagaggaa	21	2	0	4			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr13:70681587G>A	ENST00000377844.4	-	1	1004	c.245C>T	c.(244-246)cCg>cTg	p.P82L	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	82	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ggaagaggacggggaggacga	0.597																																																	0													74	78	77					13																	70681587		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.245C>T	13.37:g.70681587G>A	ENSP00000367075:p.Pro82Leu		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P82L	ENST00000377844.4	37	c.245	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160869	0.21538	.	.	ENSG00000150361	ENST00000377844	T	0.71817	-0.6	5.41	4.53	0.55603	.	1.268240	0.05384	N	0.537761	T	0.57961	0.2089	N	0.14661	0.345	0.80722	D	1	B;B	0.28605	0.217;0.103	B;B	0.17098	0.017;0.017	T	0.24225	-1.0166	10	0.39692	T	0.17	.	14.6373	0.68699	0.0:0.1443:0.8557:0.0	.	82;82	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	82	ENSP00000367075:P82L	ENSP00000367075:P82L	P	-	2	0	KLHL1	69579588	0.010000	0.17322	0.351000	0.25721	0.614000	0.37383	1.669000	0.37492	2.549000	0.85964	0.650000	0.86243	CCG	KLHL1	-	NULL		0.597	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681587	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.862	A	A	70681587	G	A	70681587	3	1	18	1	0	0	0	0	1	0	0	0	8385	1116	39	2	2045	2	KLHL1	13	70681587	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		70681587	44488291	39	2758										
PSEN1	5663	genome.wustl.edu	37	chr14	73637568	73637568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ttggccaccctgagccattaTctaatggacgaccccagggt	10	13	1	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr14:73637568T>C	ENST00000324501.5	+	4	423	c.151T>C	c.(151-153)Tct>Cct	p.S51P	PSEN1_ENST00000261970.3_Missense_Mutation_p.S51P|PSEN1_ENST00000394157.3_Missense_Mutation_p.S51P|PSEN1_ENST00000557511.1_Missense_Mutation_p.S51P|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.S47P|PSEN1_ENST00000344094.3_Missense_Mutation_p.S51P|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000357710.4_Missense_Mutation_p.S47P	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	51					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGAGCCATTATCTAATGGACG	0.478																																																	0													77	73	75					14																	73637568		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.151T>C	14.37:g.73637568T>C	ENSP00000326366:p.Ser51Pro		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.S51P	ENST00000324501.5	37	c.151	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353133	0.24512	.	.	ENSG00000080815	ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-5.49;-3.36;-3.2;-3.5;-5.81;-3.36;-6.33;-6.15;-6.16;-5.89;-6.12;-5.9;-3.87;-6.16;-6.12	5.15	3.94	0.45596	.	0.344451	0.30940	N	0.008563	D	0.97739	0.9258	N	0.08118	0	0.09310	N	1	B;B;D	0.53151	0.0;0.001;0.958	B;B;P	0.51229	0.003;0.001;0.663	D	0.94438	0.7656	10	0.25106	T	0.35	-16.0992	9.7304	0.40357	0.2461:0.0:0.0:0.7539	.	47;51;51	P49768-2;P49768;P49768-4	.;PSN1_HUMAN;.	P	47;47;47;47;51;47;47;51;51;47;51;51;51;51;47;47;47;51	ENSP00000451498:S47P;ENSP00000452128:S47P;ENSP00000450551:S47P;ENSP00000451880:S51P;ENSP00000451674:S47P;ENSP00000452477:S47P;ENSP00000377712:S51P;ENSP00000326366:S51P;ENSP00000350342:S47P;ENSP00000450652:S51P;ENSP00000261970:S51P;ENSP00000339523:S51P;ENSP00000451915:S51P;ENSP00000377719:S47P;ENSP00000451429:S51P	ENSP00000261970:S51P	S	+	1	0	PSEN1	72707321	0.679000	0.27596	0.628000	0.29241	0.350000	0.29205	2.676000	0.46883	2.161000	0.67846	0.460000	0.39030	TCT	PSEN1	-	prints_Pept_A22A_PS1		0.478	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	T			73637568	1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	0.066	C	C	73637568	T	C	73637568	3	2	18	1	0	0	0	0	1	0	0	0	12677	1435	50	5	157	5	PSEN1	14	73637568	Missense_Mutation	SNP	T	TCGA-C5-A1M9-01A-11D-A13W-08		73637568	33711972	40	2759										
CYFIP1	23191	genome.wustl.edu	37	chr15	22990062	22990062	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tgccctgttttccaggctttGaacttggcctactccagcat	8	13	0	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:22990062G>A	ENST00000313077.7	+	24	2807	c.2682G>A	c.(2680-2682)ttG>ttA	p.L894L	CYFIP1_ENST00000560848.1_Silent_p.L894L|CYFIP1_ENST00000435939.2_Silent_p.L463L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCCAGGCTTTGAACTTGGCCT	0.547																																																	0													123	113	117					15																	22990062		2203	4300	6503	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2682G>A	15.37:g.22990062G>A				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L894	ENST00000313077.7	37	c.2682	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.547	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22990062	1	no_errors	ENST00000313077	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22990062	G	A	22990062	2	1	18	1	0	0	0	0	0	0	0	1	4142	1281	45	1		1	CYFIP1	15	22990062	Silent	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		22990062	79541330	41	2760										
KIAA1370	56204	genome.wustl.edu	37	chr15	52901518	52901518	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	gactcatccttatttttcttCaacaaatttttgtcttcata	2	9	5	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr15:52901518C>T	ENST00000261844.7	-	6	1745	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L	FAM214A_ENST00000546305.2_Silent_p.L538L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	531																	TATTTTTCTTCAACAAATTTT	0.378																																																	0													69	66	67					15																	52901518		1831	4097	5928	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1593G>A	15.37:g.52901518C>T			A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.L531	ENST00000261844.7	37	c.1593	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.378	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52901518	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.988	T	T	52901518	C	T	52901518	2	4	18	1	0	0	0	0	0	0	0	1	8246	825	29	1		1	KIAA1370	15	52901518	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	29911456	52901518	49629874	42	2761										
PITPNM3	83394	genome.wustl.edu	37	chr17	6387600	6387600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tctgtcttctcaaggaaaccCggtacagttctcctgcagag	9	12	4	1	rs199749069	byFrequency	TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:6387600C>T	ENST00000262483.8	-	5	374	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R60Q	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	96					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAAGGAAACCCGGTACAGTTC	0.597													C|||	4	0.000798722	0	0	5008	,	,		19768	0		0	False		,,,				2504	0.0041																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	130	117	121		179,287	5.5	1	17		121	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	60/939,96/975	6387600	1,13005	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.287G>A	17.37:g.6387600C>T	ENSP00000262483:p.Arg96Gln		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.R96Q	ENST00000262483.8	37	c.287	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619545	0.66787	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.19532	2.14;2.14	5.54	5.54	0.83059	.	0.394164	0.22889	N	0.054413	T	0.18841	0.0452	L	0.48877	1.53	0.41849	D	0.990164	P;P	0.39352	0.669;0.487	B;B	0.29440	0.102;0.023	T	0.03166	-1.1065	10	0.33940	T	0.23	-3.7611	17.3603	0.87348	0.0:1.0:0.0:0.0	.	60;96	F8WEW5;Q9BZ71	.;PITM3_HUMAN	Q	96;60	ENSP00000262483:R96Q;ENSP00000407882:R60Q	ENSP00000262483:R96Q	R	-	2	0	PITPNM3	6328324	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.963000	0.49184	2.779000	0.95612	0.655000	0.94253	CGG	PITPNM3	-	NULL		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6387600	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6387600	C	T	6387600	3	4	18	1	0	0	0	0	1	0	0	0	11976	652	23	2	2701	2	PITPNM3	17	6387600	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		6387600	74807610	43	2762										
NEURL4	84461	genome.wustl.edu	37	chr17	7230490	7230490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	cccaaagccctcaccattatGcgactcaaggctgttaggaa	8	13	2	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:7230490G>A	ENST00000399464.2	-	3	802	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	NEURL4_ENST00000315614.7_Missense_Mutation_p.H263Y|NEURL4_ENST00000570460.1_Intron	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	263						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCATTATGCGACTCAAGG	0.632																																																	0													39	43	42					17																	7230490		1977	4138	6115	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.787C>T	17.37:g.7230490G>A	ENSP00000382390:p.His263Tyr		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.H263Y	ENST00000399464.2	37	c.787	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	7.606	0.673755	0.14841	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31769	1.49;1.48	4.96	1.51	0.23008	.	0.217725	0.38272	N	0.001744	T	0.12987	0.0315	N	0.08118	0	0.80722	D	1	B;B	0.28128	0.201;0.127	B;B	0.22601	0.04;0.018	T	0.08146	-1.0736	10	0.42905	T	0.14	-4.6164	7.0469	0.25050	0.0:0.2429:0.449:0.3081	.	263;263	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Y	263	ENSP00000319826:H263Y;ENSP00000382390:H263Y	ENSP00000319826:H263Y	H	-	1	0	NEURL4	7171214	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.543000	0.45752	0.725000	0.32318	0.655000	0.94253	CAT	NEURL4	-	NULL		0.632	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	G	NM_032442		7230490	-1	no_errors	ENST00000399464	ensembl	human	known	70_37	missense	SNP	0.999	A	A	7230490	G	A	7230490	3	1	18	1	0	0	0	0	1	0	0	0	10371	1319	46	4	4009	4	NEURL4	17	7230490	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	842890	7230490	73964720	44	2763										
CCL23	6368	genome.wustl.edu	37	chr17	34340828	34340828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ctgttcgtttcaaagtaactCtccaggagtgaacacgggat	10	9	2	1	rs538427986		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:34340828C>G	ENST00000591423.1	-	3	271	c.207G>C	c.(205-207)gaG>gaC	p.E69D	CCL23_ENST00000293280.2_Missense_Mutation_p.E86D|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	69					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAAGTAACTCTCCAGGAGTG	0.522																																																	0													121	102	108					17																	34340828		2203	4300	6503	SO:0001583	missense	6368			U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"Chemokine ligands", "Endogenous ligands"	10622	protein-coding gene	gene with protein product		602494	"small inducible cytokine subfamily A (Cys-Cys), member 23"	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.207G>C	17.37:g.34340828C>G	ENSP00000465954:p.Glu69Asp		B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.E86D	ENST00000591423.1	37	c.258	CCDS59282.1	17	.	.	.	.	.	.	.	.	.	.	C	3.201	-0.163790	0.06502	.	.	ENSG00000167236	ENST00000293280	T	0.05319	3.46	3.7	-3.41	0.04839	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	2.753360	0.01431	N	0.014720	T	0.05456	0.0144	L	0.47190	1.495	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.35968	-0.9767	10	0.13853	T	0.58	.	0.9852	0.01444	0.1675:0.3266:0.1717:0.3341	.	69;86	P55773;P55773-2	CCL23_HUMAN;.	D	86	ENSP00000293280:E86D	ENSP00000293280:E86D	E	-	3	2	CCL23	31364941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.386000	0.02537	-0.926000	0.03770	-0.424000	0.05967	GAG	CCL23	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.522	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCL23	HGNC	protein_coding	OTTHUMT00000450228.1	C	NM_005064, NM_145898		34340828	-1	no_errors	ENST00000293280	ensembl	human	known	70_37	missense	SNP	0.000	G	G	34340828	C	G	34340828	3	3	18	1	0	0	0	0	1	0	0	0	2900	912	32	1	163	1	CCL23	17	34340828	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	27110338	34340828	46854382	45	2764			2	14		2	2	44	C		7.778293e-05
CCL23	6368	genome.wustl.edu	37	chr17	34340871	34340871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ttcgtggggtgtaggagatgCagcagtcagcactagtagca	15	7	1	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:34340871C>T	ENST00000591423.1	-	3	228	c.164G>A	c.(163-165)tGc>tAc	p.C55Y	CCL23_ENST00000293280.2_Missense_Mutation_p.C72Y|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	55					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTAGGAGATGCAGCAGTCAGC	0.537																																																	0													156	118	131					17																	34340871		2203	4300	6503	SO:0001583	missense	6368			U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"Chemokine ligands", "Endogenous ligands"	10622	protein-coding gene	gene with protein product		602494	"small inducible cytokine subfamily A (Cys-Cys), member 23"	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.164G>A	17.37:g.34340871C>T	ENSP00000465954:p.Cys55Tyr		B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.C72Y	ENST00000591423.1	37	c.215	CCDS59282.1	17	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112973	0.56398	.	.	ENSG00000167236	ENST00000293280	D	0.86097	-2.07	3.7	3.7	0.42460	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	D	0.93815	0.8022	H	0.95187	3.635	0.44702	D	0.997697	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94638	0.7828	10	0.87932	D	0	.	11.1228	0.48300	0.0:1.0:0.0:0.0	.	55;72	P55773;P55773-2	CCL23_HUMAN;.	Y	72	ENSP00000293280:C72Y	ENSP00000293280:C72Y	C	-	2	0	CCL23	31364984	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	3.576000	0.53878	2.042000	0.60477	0.511000	0.50034	TGC	CCL23	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.537	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCL23	HGNC	protein_coding	OTTHUMT00000450228.1	C	NM_005064, NM_145898		34340871	-1	no_errors	ENST00000293280	ensembl	human	known	70_37	missense	SNP	0.999	T	T	34340871	C	T	34340871	3	4	18	1	0	0	0	0	1	0	0	0	2900	710	25	4	206	4	CCL23	17	34340871	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	43	34340871	46854339	46	2765			2	14		2	2	44	C		7.778293e-05
SEC14L1	6397	genome.wustl.edu	37	chr17	75186917	75186917	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	aggttccctacatgtcctttGattccgatgttcgtgggcag	11	10	0	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr17:75186917G>A	ENST00000413679.2	+	4	399	c.96G>A	c.(94-96)ttG>ttA	p.L32L	SEC14L1_ENST00000430767.4_Silent_p.L32L|SEC14L1_ENST00000591437.1_5'UTR|SEC14L1_ENST00000585618.1_Silent_p.L32L|SEC14L1_ENST00000431431.2_5'UTR|SEC14L1_ENST00000436233.4_Silent_p.L32L|SEC14L1_ENST00000392476.2_Silent_p.L32L|SEC14L1_ENST00000443798.4_Silent_p.L32L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	32	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CATGTCCTTTGATTCCGATGT	0.458																																																	0													105	95	98					17																	75186917		2203	4300	6503	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.96G>A	17.37:g.75186917G>A			A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.L32	ENST00000413679.2	37	c.96	CCDS11752.1	17																																																																																			SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.458	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	G	NM_003003		75186917	1	no_errors	ENST00000392476	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75186917	G	A	75186917	2	1	18	1	0	0	0	0	0	0	0	1	14011	1281	45	1		1	SEC14L1	17	75186917	Silent	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	40846046	75186917	6008293	47	2766										
SMAD4	4089	genome.wustl.edu	37	chr18	48575080	48575080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ctggtcggaaaggatttcctCatgtgatctatgcccgtctc	10	11	3	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr18:48575080C>T	ENST00000342988.3	+	3	812	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.H92Y|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.H92Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.H92Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	92	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGGATTTCCTCATGTGATCTA	0.363																																																	40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)											150	137	141					18																	48575080		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.274C>T	18.37:g.48575080C>T	ENSP00000341551:p.His92Tyr		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H92Y	ENST00000342988.3	37	c.274	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937191	0.92458	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80304	-1.36;-1.36;-1.36	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94608	0.7802	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	92	Q13485	SMAD4_HUMAN	Y	92	ENSP00000409551:H92Y;ENSP00000341551:H92Y;ENSP00000381452:H92Y	ENSP00000341551:H92Y	H	+	1	0	SMAD4	46829078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.463000	0.83235	0.585000	0.79938	CAT	SMAD4	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.363	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48575080	1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48575080	C	T	48575080	3	4	18	1	0	0	0	0	1	0	0	0	14790	826	29	1	280	1	SMAD4	18	48575080	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		48575080	29502168	48	2767										
OLFM2	93145	genome.wustl.edu	37	chr19	9965242	9965242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	cacagcccagagcccgctctCgtccaccatgaagtccatgt	8	17	1	2			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:9965242C>T	ENST00000264833.4	-	6	1170	c.985G>A	c.(985-987)Gag>Aag	p.E329K	OLFM2_ENST00000590841.1_Missense_Mutation_p.E251K	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	329	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGCCCGCTCTCGTCCACCATG	0.652																																																	0													61	60	60					19																	9965242		2203	4300	6503	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.985G>A	19.37:g.9965242C>T	ENSP00000264833:p.Glu329Lys		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.E329K	ENST00000264833.4	37	c.985	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.118351	0.94385	.	.	ENSG00000105088	ENST00000264833	D	0.93763	-3.28	4.6	4.6	0.57074	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.98413	1.0573	9	.	.	.	.	14.9484	0.71050	0.0:1.0:0.0:0.0	.	329	O95897	NOE2_HUMAN	K	329	ENSP00000264833:E329K	.	E	-	1	0	OLFM2	9826242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.556000	0.82233	2.357000	0.79964	0.561000	0.74099	GAG	OLFM2	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like		0.652	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	C			9965242	-1	no_errors	ENST00000264833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9965242	C	T	9965242	3	4	18	1	0	0	0	0	1	0	0	0	10877	893	31	1	383	1	OLFM2	19	9965242	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		9965242	49163741	49	2768										
SLC1A6	6511	genome.wustl.edu	37	chr19	15083604	15083604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	cgagggtcatggtctgcaggCgcaggcgcgtgcgcagtgct	18	11	2	0	rs540964903		TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:15083604C>T	ENST00000221742.3	-	1	126	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000430939.2_Silent_p.A44A|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R40H|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R40H	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	40					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R40H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGTCTGCAGGCGCAGGCGCGT	0.682																																																	1	Substitution - Missense(1)	lung(1)											22	24	23					19																	15083604		2202	4300	6502	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.119G>A	19.37:g.15083604C>T	ENSP00000221742:p.Arg40His		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R40H	ENST00000221742.3	37	c.119	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592229	0.28357	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.57595	0.39;1.13	4.46	2.13	0.27403	.	0.674152	0.13213	N	0.405013	T	0.25044	0.0608	N	0.08118	0	0.30108	N	0.806784	B;B;B	0.19331	0.035;0.014;0.016	B;B;B	0.12156	0.007;0.006;0.003	T	0.23154	-1.0196	10	0.12103	T	0.63	-12.3841	4.8781	0.13665	0.0:0.6828:0.0:0.3172	.	40;41;40	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	H	40;40;41	ENSP00000221742:R40H;ENSP00000446175:R40H	ENSP00000221742:R40H	R	-	2	0	SLC1A6	14944604	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	2.250000	0.43178	1.007000	0.39238	0.313000	0.20887	CGC	SLC1A6	-	NULL		0.682	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	C	NM_005071		15083604	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15083604	C	T	15083604	3	4	18	1	0	0	0	0	1	0	0	0	14466	768	27	2	1611	2	SLC1A6	19	15083604	Missense_Mutation	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	5118362	15083604	44045379	50	2769										
ZNF536	9745	genome.wustl.edu	37	chr19	30935510	30935510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tcggccaacgagttccgctgCgaggtgtgcggtcaggtgtt	16	10	1	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr19:30935510C>T	ENST00000355537.3	+	2	1188	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	347					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCGCTGCGAGGTGTGCG	0.652																																																	0													95	105	102					19																	30935510		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1041C>T	19.37:g.30935510C>T			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C347	ENST00000355537.3	37	c.1041	CCDS32984.1	19																																																																																			ZNF536	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935510	1	no_errors	ENST00000355537	ensembl	human	known	70_37	silent	SNP	0.964	T	T	30935510	C	T	30935510	2	4	18	1	0	0	0	0	0	0	0	1	18004	776	27	2		2	ZNF536	19	30935510	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	15851906	30935510	28193473	51	2770										
FAM65C	140876	genome.wustl.edu	37	chr20	49226185	49226185	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	cggctcggggggcaccgggcGaaggcccgctgcatgctgga	19	13	0	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr20:49226185G>A	ENST00000327979.2	-	7	900	c.489C>T	c.(487-489)ttC>ttT	p.F163F	FAM65C_ENST00000045083.2_Silent_p.F163F|FAM65C_ENST00000535356.1_Silent_p.F167F			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	163										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCACCGGGCGAAGGCCCGCT	0.736																																																	0													5	6	5					20																	49226185		1982	3877	5859	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.489C>T	20.37:g.49226185G>A			Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.F167	ENST00000327979.2	37	c.501	CCDS13431.2	20																																																																																			FAM65C	-	NULL		0.736	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	G			49226185	-1	no_errors	ENST00000535356	ensembl	human	known	70_37	silent	SNP	0.946	A	A	49226185	G	A	49226185	2	1	18	1	0	0	0	0	0	0	0	1	5619	1049	37	1		1	FAM65C	20	49226185	Silent	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		49226185	13799335	52	2771										
CDC42EP1	11135	genome.wustl.edu	37	chr22	37964251	37964251	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ttgtccttccgcctggacctCgaccttgggccctcactcct	8	18	1	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr22:37964251C>T	ENST00000249014.4	+	3	1020	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	200					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCCTGGACCTCGACCTTGGGC	0.667																																																	0													59	64	62					22																	37964251		2203	4300	6503	SO:0001819	synonymous_variant	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.600C>T	22.37:g.37964251C>T			A8K825|Q96GN1	Silent	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.L200	ENST00000249014.4	37	c.600	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	C	NM_152243		37964251	1	no_errors	ENST00000249014	ensembl	human	known	70_37	silent	SNP	0.932	T	T	37964251	C	T	37964251	2	4	18	1	0	0	0	0	0	0	0	1	3080	871	31	1		1	CDC42EP1	22	37964251	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08		37964251	13340315	53	2772										
CELSR1	9620	genome.wustl.edu	37	chr22	46777897	46777897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	ctcggtgccaggccccgggcGcgtggtctgcggggtggtcc	19	14	1	0			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chr22:46777897G>A	ENST00000262738.3	-	21	6933	c.6934C>T	c.(6934-6936)Cgc>Tgc	p.R2312C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2312			R -> P (does not affect protein localization to the cell membrane; dbSNP:rs7287089). {ECO:0000269|PubMed:22095531}.		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCCCGGGCGCGTGGTCTGC	0.682																																																	0													8	9	8					22																	46777897		2137	4189	6326	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6934C>T	22.37:g.46777897G>A	ENSP00000262738:p.Arg2312Cys		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2312C	ENST00000262738.3	37	c.6934	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515045	0.44763	.	.	ENSG00000075275	ENST00000262738	T	0.68624	-0.34	4.89	1.36	0.22044	Domain of unknown function DUF3497 (1);	1.362770	0.05247	U	0.513271	T	0.66519	0.2797	N	0.22421	0.69	0.09310	N	1	D;D	0.69078	0.997;0.99	P;B	0.58266	0.836;0.396	T	0.56486	-0.7971	10	0.62326	D	0.03	.	7.5036	0.27532	0.0913:0.349:0.5597:0.0	.	633;2312	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	C	2312	ENSP00000262738:R2312C	ENSP00000262738:R2312C	R	-	1	0	CELSR1	45156561	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.047000	0.30367	0.470000	0.27294	-0.321000	0.08615	CGC	CELSR1	-	pfam_DUF3497		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	G	NM_014246		46777897	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46777897	G	A	46777897	3	1	18	1	0	0	0	0	1	0	0	0	3226	1087	38	2	2170	2	CELSR1	22	46777897	Missense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08	8813646	46777897	4526669	54	2773										
TMEM47	83604	genome.wustl.edu	37	chrX	34657409	34657409	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	aggtctatagaaacgccttcGagatcccacgcagatagaaa	9	10	1	4			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:34657409G>A	ENST00000275954.3	-	2	580	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	108						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAACGCCTTCGAGATCCCACG	0.448																																																	0													72	60	64					X																	34657409		2202	4300	6502	SO:0001587	stop_gained	83604			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.322C>T	X.37:g.34657409G>A	ENSP00000275954:p.Arg108*		Q5JR44	Nonsense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.R108*	ENST00000275954.3	37	c.322	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.620471	0.97709	.	.	ENSG00000147027	ENST00000275954	.	.	.	5.71	2.98	0.34508	.	0.111342	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.3699	6.6756	0.23092	0.156:0.0:0.6983:0.1457	.	.	.	.	X	108	.	ENSP00000275954:R108X	R	-	1	2	TMEM47	34567330	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.059000	0.57470	0.561000	0.29186	0.538000	0.68166	CGA	TMEM47	-	pfam_Lipome_HGMIC_fus_partner-like		0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	HGNC	protein_coding	OTTHUMT00000056209.1	G	NM_031442		34657409	-1	no_errors	ENST00000275954	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	34657409	G	A	34657409	4	1	18	1	0	0	0	0	0	1	0	0	16201	1066	37	1	231	1	TMEM47	23	34657409	Nonsense_Mutation	SNP	G	TCGA-C5-A1M9-01A-11D-A13W-08		34657409	120613151	55	2774										
ZC3H12B	340554	genome.wustl.edu	37	chrX	64717050	64717050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	attctcctgcagaggaatacAacttgctgtggattggtttc	10	8	1	1			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:64717050A>G	ENST00000338957.4	+	2	714	c.647A>G	c.(646-648)cAa>cGa	p.Q216R	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.Q205R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	216							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAATACAACTTGCTGTG	0.388																																																	0													58	53	54					X																	64717050		1826	4076	5902	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.647A>G	X.37:g.64717050A>G	ENSP00000340839:p.Gln216Arg		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.Q216R	ENST00000338957.4	37	c.647	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906100	0.72868	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.41065	1.01;1.01	5.5	5.5	0.81552	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.10707	0.03	0.48830	D	0.999717	D	0.53619	0.961	P	0.51974	0.686	T	0.13202	-1.0518	10	0.17832	T	0.49	-13.5681	13.3364	0.60520	1.0:0.0:0.0:0.0	.	205	Q5HYM0	ZC12B_HUMAN	R	216;205;152	ENSP00000340839:Q216R;ENSP00000408077:Q205R	ENSP00000218172:Q152R	Q	+	2	0	ZC3H12B	64633775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.827000	0.92041	1.832000	0.53329	0.486000	0.48141	CAA	ZC3H12B	-	pfam_RNase_Zc3h12		0.388	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	A	XM_293334		64717050	1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64717050	A	G	64717050	3	3	18	1	0	0	0	0	1	0	0	0	17592	130	5	5	653	5	ZC3H12B	23	64717050	Missense_Mutation	SNP	A	TCGA-C5-A1M9-01A-11D-A13W-08	30059641	64717050	90553510	56	2775										
MAMLD1	10046	genome.wustl.edu	37	chrX	149638349	149638349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	14	0.00178228575341687	2.4903748733536	4.77745383867833	2.09013605442177	0.0655954788343701	0.189933177520415	8	tactatgagaaaatcaacagCgtgccggctgtagaccagga	11	9	1	2			TCGA-C5-A1M9-01A-11D-A13W-08	TCGA-C5-A1M9-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70e4fbc8-094d-4493-8bf3-d28395d721e1	f3d88d4e-4ef1-496b-bc30-4566c3d4de72	g.chrX:149638349C>T	ENST00000370401.2	+	4	814	c.504C>T	c.(502-504)agC>agT	p.S168S	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Silent_p.S143S|MAMLD1_ENST00000262858.5_Silent_p.S168S|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Silent_p.S143S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	168					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCAACAGCGTGCCGGCTG	0.478																																																	0													63	61	62					X																	149638349		2203	4300	6503	SO:0001819	synonymous_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.504C>T	X.37:g.149638349C>T			B2RCQ4|B4DG93|B9EGA5	Silent	SNP	NULL	p.S143	ENST00000370401.2	37	c.429	CCDS14693.2	X																																																																																			MAMLD1	-	NULL		0.478	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149638349	1	no_errors	ENST00000432680	ensembl	human	known	70_37	silent	SNP	0.000	T	T	149638349	C	T	149638349	2	4	18	1	0	0	0	0	0	0	0	1	9231	767	27	2		2	MAMLD1	23	149638349	Silent	SNP	C	TCGA-C5-A1M9-01A-11D-A13W-08	84921299	149638349	5632211	57	2776										
CLCN6	1185	genome.wustl.edu	37	chr1	11897157	11897157	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	aacatgtgtgatgagcacatCgcctctgaggagccagccga	12	11	1	3			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:11897157C>T	ENST00000346436.6	+	19	2134	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	CLCN6_ENST00000376487.3_Silent_p.I672I|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.I694I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	694					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGCACATCGCCTCTGAGG	0.632																																																	0													56	53	54					1																	11897157		2203	4300	6503	SO:0001819	synonymous_variant	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2082C>T	1.37:g.11897157C>T			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.I694	ENST00000346436.6	37	c.2082	CCDS138.1	1																																																																																			CLCN6	-	NULL		0.632	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	C	NM_001286		11897157	1	no_errors	ENST00000346436	ensembl	human	known	70_37	silent	SNP	0.002	T	T	11897157	C	T	11897157	2	4	19	1	0	0	0	0	0	0	0	1	3472	874	31	1		1	CLCN6	1	11897157	Silent	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		11897157	237353464	1	2777										
PAX7	5081	genome.wustl.edu	37	chr1	19027177	19027177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gtaaccgccgcgcccgttggCgtaagcaggcaggagccaac	14	14	0	0			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:19027177C>T	ENST00000375375.3	+	6	1415	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	PAX7_ENST00000420770.2_Missense_Mutation_p.R273C|PAX7_ENST00000400661.3_Missense_Mutation_p.R271C	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	273					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGCCCGTTGGCGTAAGCAGGC	0.652			T	FOXO1A	alveolar rhabdomyosarcoma																																			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													49	54	52					1																	19027177		2203	4300	6503	SO:0001583	missense	5081			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.817C>T	1.37:g.19027177C>T	ENSP00000364524:p.Arg273Cys		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.R273C	ENST00000375375.3	37	c.817	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900529	0.92035	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.97665	-4.48;-4.48;-4.48	4.82	4.82	0.62117	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.99900	4.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.983;0.984;0.989	D	0.98032	1.0377	10	0.87932	D	0	.	16.6357	0.85059	0.0:1.0:0.0:0.0	.	273;271;273	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	C	273;273;271	ENSP00000364524:R273C;ENSP00000403389:R273C;ENSP00000383502:R271C	ENSP00000364524:R273C	R	+	1	0	PAX7	18899764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.480000	0.53172	2.475000	0.83589	0.561000	0.74099	CGT	PAX7	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.652	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	C	NM_002584		19027177	1	no_errors	ENST00000375375	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19027177	C	T	19027177	3	4	19	1	0	0	0	0	1	0	0	0	11508	768	27	2	839	2	PAX7	1	19027177	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	7130020	19027177	230223444	2	2778										
WDTC1	23038	genome.wustl.edu	37	chr1	27627932	27627932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ccgcgacatcacagctgcccTcttctctaaaaatgatggtg	8	13	3	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:27627932T>A	ENST00000319394.3	+	13	1983	c.1448T>A	c.(1447-1449)cTc>cAc	p.L483H	WDTC1_ENST00000361771.3_Missense_Mutation_p.L482H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	483					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACAGCTGCCCTCTTCTCTAAA	0.542																																																	0													47	45	46					1																	27627932		2203	4300	6503	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1448T>A	1.37:g.27627932T>A	ENSP00000317971:p.Leu483His		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L483H	ENST00000319394.3	37	c.1448		1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115845	0.77323	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.63580	-0.05;-0.05	5.49	5.49	0.81192	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.64776	0.846;0.929	T	0.72653	-0.4228	10	0.45353	T	0.12	.	15.0689	0.72017	0.0:0.0:0.0:1.0	.	483;482	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	H	483;482	ENSP00000317971:L483H;ENSP00000355317:L482H	ENSP00000317971:L483H	L	+	2	0	WDTC1	27500519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.209000	0.71365	0.533000	0.62120	CTC	WDTC1	-	superfamily_WD40_repeat_dom		0.542	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		T	NM_015023		27627932	1	no_errors	ENST00000319394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27627932	T	A	27627932	3	1	19	1	0	0	0	0	1	0	0	0	17373	1551	54	5	1491	5	WDTC1	1	27627932	Missense_Mutation	SNP	T	TCGA-C5-A1ME-01A-11D-A13W-08	8600755	27627932	221622689	3	2779										
AHCYL1	10768	genome.wustl.edu	37	chr1	110561084	110561084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gccactccaacacagaaatcGatgtggtaaggcttctctca	8	12	2	1	rs538566120		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:110561084G>A	ENST00000369799.5	+	12	1580	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	AHCYL1_ENST00000393614.4_Missense_Mutation_p.D358N|AHCYL1_ENST00000359172.3_Missense_Mutation_p.D358N	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	405	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CACAGAAATCGATGTGGTAAG	0.413													G|||	1	0.000199681	0	0	5008	,	,		18242	0		0	False		,,,				2504	0.001																0													114	93	100					1																	110561084		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1213G>A	1.37:g.110561084G>A	ENSP00000358814:p.Asp405Asn		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.D405N	ENST00000369799.5	37	c.1213	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.096581	0.94197	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.79940	-1.32;-1.3;-1.3	5.8	5.8	0.92144	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	L	0.55834	1.745	0.80722	D	1	P	0.41910	0.764	P	0.45829	0.494	T	0.80476	-0.1366	10	0.59425	D	0.04	-7.0646	20.0706	0.97721	0.0:0.0:1.0:0.0	.	405	O43865	SAHH2_HUMAN	N	405;358;358	ENSP00000358814:D405N;ENSP00000352092:D358N;ENSP00000377238:D358N	ENSP00000352092:D358N	D	+	1	0	AHCYL1	110362607	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.869000	0.99810	2.744000	0.94065	0.655000	0.94253	GAT	AHCYL1	-	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.413	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1	G			110561084	1	no_errors	ENST00000369799	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110561084	G	A	110561084	3	1	19	1	0	0	0	0	1	0	0	0	410	1058	37	1	1259	1	AHCYL1	1	110561084	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	82933152	110561084	138689537	4	2780										
DENND2C	163259	genome.wustl.edu	37	chr1	115168296	115168296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	atttttaaagaagtgtgtatCgtcatattcatgtttcttat	6	4	3	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:115168296C>T	ENST00000393274.1	-	4	935	c.310G>A	c.(310-312)Gat>Aat	p.D104N	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.D104N|DENND2C_ENST00000393277.1_Missense_Mutation_p.D104N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	104					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGTGTATCGTCATATTCA	0.353																																																	0													124	122	123					1																	115168296		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.310G>A	1.37:g.115168296C>T	ENSP00000376955:p.Asp104Asn		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D104N	ENST00000393274.1	37	c.310	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885309	0.02511	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08807	3.69;3.67;3.05	4.88	1.94	0.25998	.	2.079960	0.01633	N	0.023662	T	0.01189	0.0039	N	0.12182	0.205	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.001	T	0.40251	-0.9573	10	0.12766	T	0.61	.	3.0561	0.06184	0.1302:0.4601:0.254:0.1556	.	104;104	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	104	ENSP00000376957:D104N;ENSP00000376955:D104N;ENSP00000376958:D104N	ENSP00000358553:D104N	D	-	1	0	DENND2C	114969819	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.076000	0.14712	0.712000	0.32039	0.650000	0.86243	GAT	DENND2C	-	NULL		0.353	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115168296	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	0.000	T	T	115168296	C	T	115168296	3	4	19	1	0	0	0	0	1	0	0	0	4440	884	31	1	2373	1	DENND2C	1	115168296	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	4607212	115168296	134082325	5	2781										
ANXA9	8416	genome.wustl.edu	37	chr1	150958852	150958852	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gatgacatcacatctgagacCagtggcatcttgcaggacct	10	11	3	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:150958852C>A	ENST00000368947.4	+	8	989	c.513C>A	c.(511-513)acC>acA	p.T171T		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	171					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATCTGAGACCAGTGGCATCT	0.562																																																	0													78	67	71					1																	150958852		2203	4300	6503	SO:0001819	synonymous_variant	8416			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.513C>A	1.37:g.150958852C>A			Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI	p.T171	ENST00000368947.4	37	c.513	CCDS975.2	1																																																																																			ANXA9	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.562	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA9	HGNC	protein_coding	OTTHUMT00000084895.2	C	NM_003568		150958852	1	no_errors	ENST00000368947	ensembl	human	known	70_37	silent	SNP	0.079	A	A	150958852	C	A	150958852	2	1	19	1	0	0	0	0	0	0	0	1	725	581	21	4		4	ANXA9	1	150958852	Silent	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	35790556	150958852	98291769	6	2782										
CREB3L4	148327	genome.wustl.edu	37	chr1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tcctgcccagagcaggcaccGtagccccagtgccctgtaca	10	17	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:153941905G>A	ENST00000368607.3	+	4	783	c.517G>A	c.(517-519)Gta>Ata	p.V173I	CREB3L4_ENST00000405694.3_Missense_Mutation_p.V26I|CREB3L4_ENST00000368601.1_Missense_Mutation_p.V173I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V153I|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V173I|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368603.1_Missense_Mutation_p.V173I|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	173					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGCAGGCACCGTAGCCCCAGT	0.532																																																	0													104	89	94					1																	153941905		2203	4300	6503	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.517G>A	1.37:g.153941905G>A	ENSP00000357596:p.Val173Ile		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.V173I	ENST00000368607.3	37	c.517	CCDS1056.1	1	.	.	.	.	.	.	.	.	.	.	G	2.769	-0.256203	0.05829	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.76578	-1.03;-0.03;-0.03;-0.03;0.94;-0.03;-0.03;0.9	4.68	-1.15	0.09709	.	1.298410	0.05553	N	0.567930	T	0.44286	0.1286	L	0.41236	1.265	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12837	-1.0532	10	0.33141	T	0.24	.	4.3232	0.11027	0.278:0.0:0.4594:0.2626	.	153;173	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	I	26;153;173;173;173;173;153;173	ENSP00000385104:V26I;ENSP00000391847:V153I;ENSP00000357596:V173I;ENSP00000271889:V173I;ENSP00000357590:V173I;ENSP00000357592:V173I;ENSP00000357589:V153I;ENSP00000402308:V173I	ENSP00000271889:V173I	V	+	1	0	CREB3L4	152208529	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.587000	0.05780	-0.757000	0.04697	-2.619000	0.00157	GTA	CREB3L4	-	NULL		0.532	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	G	NM_130898		153941905	1	no_errors	ENST00000271889	ensembl	human	known	70_37	missense	SNP	0.000	A	A	153941905	G	A	153941905	3	1	19	1	0	0	0	0	1	0	0	0	3864	1145	40	2	527	2	CREB3L4	1	153941905	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	2983053	153941905	95308716	7	2783										
LGR6	59352	genome.wustl.edu	37	chr1	202279443	202279443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ttgatgatgaggagtcttcaAaaaggcccctgggcctcctt	11	10	2	3			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:202279443A>G	ENST00000367278.3	+	16	1614	c.1525A>G	c.(1525-1527)Aaa>Gaa	p.K509E	LGR6_ENST00000255432.7_Missense_Mutation_p.K457E|LGR6_ENST00000439764.2_Missense_Mutation_p.K370E	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	509					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGAGTCTTCAAAAAGGCCCCT	0.577																																																	0													77	72	74					1																	202279443		2203	4300	6503	SO:0001583	missense	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1525A>G	1.37:g.202279443A>G	ENSP00000356247:p.Lys509Glu		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.K509E	ENST00000367278.3	37	c.1525	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746720	0.49257	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.60548	0.18;0.58;0.58	5.71	4.56	0.56223	.	0.268039	0.42420	D	0.000710	T	0.63604	0.2525	M	0.63843	1.955	0.28919	N	0.892226	D;P;P	0.53745	0.962;0.868;0.82	P;B;P	0.54060	0.741;0.281;0.576	T	0.59273	-0.7485	10	0.24483	T	0.36	.	11.6728	0.51413	0.8517:0.1483:0.0:0.0	.	370;457;509	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	E	509;457;370	ENSP00000356247:K509E;ENSP00000255432:K457E;ENSP00000387869:K370E	ENSP00000255432:K457E	K	+	1	0	LGR6	200546066	1.000000	0.71417	0.312000	0.25196	0.099000	0.18886	6.555000	0.73928	0.955000	0.37878	0.533000	0.62120	AAA	LGR6	-	NULL		0.577	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	A	NM_021636		202279443	1	no_errors	ENST00000367278	ensembl	human	known	70_37	missense	SNP	0.993	G	G	202279443	A	G	202279443	3	3	19	1	0	0	0	0	1	0	0	0	8778	15	1	5	1734	5	LGR6	1	202279443	Missense_Mutation	SNP	A	TCGA-C5-A1ME-01A-11D-A13W-08	48337538	202279443	46971178	8	2784										
TRIM58	25893	genome.wustl.edu	37	chr1	248039396	248039396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	aggttctggtgggagaaggaGcagagtggggtttaggggtc	21	3	1	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:248039396G>T	ENST00000366481.3	+	6	1114	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGAGAAGGAGCAGAGTGGGG	0.572																																																	0													109	100	103					1																	248039396		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1066G>T	1.37:g.248039396G>T	ENSP00000355437:p.Ala356Ser		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A356S	ENST00000366481.3	37	c.1066	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	2.226	-0.377217	0.05000	.	.	ENSG00000162722	ENST00000366481	T	0.68765	-0.35	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.112611	0.40302	N	0.001138	T	0.43211	0.1237	N	0.12746	0.255	0.09310	N	0.999997	B	0.17268	0.021	B	0.24006	0.05	T	0.16571	-1.0398	10	0.15066	T	0.55	.	7.8767	0.29597	0.1079:0.0:0.8921:0.0	.	356	Q8NG06	TRI58_HUMAN	S	356	ENSP00000355437:A356S	ENSP00000355437:A356S	A	+	1	0	TRIM58	246106019	0.009000	0.17119	0.020000	0.16555	0.015000	0.08874	1.144000	0.31565	2.559000	0.86315	0.650000	0.86243	GCA	TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	G	NM_015431		248039396	1	no_errors	ENST00000366481	ensembl	human	known	70_37	missense	SNP	0.001	T	T	248039396	G	T	248039396	3	4	19	1	0	0	0	0	1	0	0	0	16562	971	34	4	1088	4	TRIM58	1	248039396	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	45759953	248039396	1211225	9	2785										
XDH	7498	genome.wustl.edu	37	chr2	31605889	31605889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ccacagacttgacttgcttcCcagcaaaccagcgcagctgc	8	16	0	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:31605889C>A	ENST00000379416.3	-	11	1064	c.1016G>T	c.(1015-1017)gGg>gTg	p.G339V	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	339	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GACTTGCTTCCCAGCAAACCA	0.552																																					Colon(66;682 1445 30109 40147)												0													73	67	69					2																	31605889		2203	4300	6503	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1016G>T	2.37:g.31605889C>A	ENSP00000368727:p.Gly339Val		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.G339V	ENST00000379416.3	37	c.1016	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.142472	0.94560	.	.	ENSG00000158125	ENST00000379416	T	0.26223	1.75	5.65	5.65	0.86999	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79334	-0.1846	10	0.87932	D	0	.	19.3258	0.94261	0.0:1.0:0.0:0.0	.	339	P47989	XDH_HUMAN	V	339	ENSP00000368727:G339V	ENSP00000368727:G339V	G	-	2	0	XDH	31459393	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.727000	0.84838	2.668000	0.90789	0.448000	0.29417	GGG	XDH	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	C	NM_000379		31605889	-1	no_errors	ENST00000379416	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31605889	C	A	31605889	3	1	19	1	0	0	0	0	1	0	0	0	17457	623	22	4	3089	4	XDH	2	31605889	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		31605889	211593484	10	2786										
TMEM163	81615	genome.wustl.edu	37	chr2	135223716	135223716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	agtgctctactggtcagaacCttccccagcatgaacttcaa	7	13	3	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:135223716C>A	ENST00000281924.6	-	6	700	c.636G>T	c.(634-636)aaG>aaT	p.K212N		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	212						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TGGTCAGAACCTTCCCCAGCA	0.507																																																	0													94	74	81					2																	135223716		2203	4300	6503	SO:0001583	missense	81615				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.636G>T	2.37:g.135223716C>A	ENSP00000281924:p.Lys212Asn		Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	NULL	p.K212N	ENST00000281924.6	37	c.636	CCDS2172.1	2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638327	0.47153	.	.	ENSG00000152128	ENST00000281924	T	0.66460	-0.21	6.07	3.33	0.38152	.	0.045573	0.85682	D	0.000000	T	0.53626	0.1808	L	0.46157	1.445	0.44447	D	0.997371	B	0.17268	0.021	B	0.15484	0.013	T	0.52924	-0.8510	10	0.59425	D	0.04	.	3.9751	0.09470	0.1559:0.5394:0.0:0.3047	.	212	Q8TC26	TM163_HUMAN	N	212	ENSP00000281924:K212N	ENSP00000281924:K212N	K	-	3	2	TMEM163	134940186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.449000	0.35123	0.911000	0.36747	0.655000	0.94253	AAG	TMEM163	-	NULL		0.507	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	HGNC	protein_coding	OTTHUMT00000254631.2	C	NM_030923		135223716	-1	no_errors	ENST00000281924	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135223716	C	A	135223716	3	1	19	1	0	0	0	0	1	0	0	0	16108	680	24	4	245	4	TMEM163	2	135223716	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	103617827	135223716	107975657	11	2787										
MBD5	55777	genome.wustl.edu	37	chr2	149247488	149247488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tgccacacatccaaaaaacaGtgggacggggagcaaagccc	11	12	0	0			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:149247488G>A	ENST00000407073.1	+	12	4585	c.3588G>A	c.(3586-3588)caG>caA	p.Q1196Q	MBD5_ENST00000404807.1_Silent_p.Q1429Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1196					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAAAAAACAGTGGGACGGGG	0.483																																																	0													98	102	101					2																	149247488		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3588G>A	2.37:g.149247488G>A			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.Q1196	ENST00000407073.1	37	c.3588	CCDS33302.1	2																																																																																			MBD5	-	NULL		0.483	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	G			149247488	1	no_errors	ENST00000407073	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149247488	G	A	149247488	2	1	19	1	0	0	0	0	0	0	0	1	9370	1020	36	4		4	MBD5	2	149247488	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	14023772	149247488	93951885	12	2788										
CCDC148	130940	genome.wustl.edu	37	chr2	159170296	159170296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gcctagatttgtgaggaaaaTatctttgtaacatgtccaga	9	6	1	3			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:159170296T>C	ENST00000283233.5	-	8	1188	c.875A>G	c.(874-876)tAt>tGt	p.Y292C	CCDC148_ENST00000409187.1_Missense_Mutation_p.Y301C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y206C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	292										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGAGGAAAATATCTTTGTAA	0.378																																																	0													110	111	111					2																	159170296		2203	4300	6503	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.875A>G	2.37:g.159170296T>C	ENSP00000283233:p.Tyr292Cys		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	NULL	p.Y292C	ENST00000283233.5	37	c.875	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618527	0.28801	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.31510	1.94;1.94;1.49	5.25	2.81	0.32909	.	.	.	.	.	T	0.39410	0.1077	L	0.35288	1.05	0.28868	N	0.895142	D;D;D;B;B	0.89917	1.0;1.0;1.0;0.003;0.001	D;D;D;B;B	0.73380	0.98;0.98;0.98;0.005;0.003	T	0.14448	-1.0472	9	0.38643	T	0.18	-1.2543	8.4684	0.32971	0.0:0.1691:0.0:0.8309	.	206;140;140;301;292	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	C	292;140;301;206	ENSP00000283233:Y292C;ENSP00000386674:Y301C;ENSP00000443740:Y206C	ENSP00000283233:Y292C	Y	-	2	0	CCDC148	158878542	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.803000	0.27083	0.841000	0.35020	0.460000	0.39030	TAT	CCDC148	-	NULL		0.378	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	T	NM_138803		159170296	-1	no_errors	ENST00000283233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	159170296	T	C	159170296	3	2	19	1	0	0	0	0	1	0	0	0	2787	1406	49	5	980	5	CCDC148	2	159170296	Missense_Mutation	SNP	T	TCGA-C5-A1ME-01A-11D-A13W-08	9922808	159170296	84029077	13	2789										
TTN	7273	genome.wustl.edu	37	chr2	179483070	179483070	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tctgcacggtctgtggccagAacccaggtctttctcttaat	9	12	4	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:179483070A>T	ENST00000591111.1	-	202	42416	c.42192T>A	c.(42190-42192)gtT>gtA	p.V14064V	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V15705V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.V6832V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V13137V|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Silent_p.V6765V|TTN_ENST00000460472.2_Silent_p.V6640V			Q8WZ42	TITIN_HUMAN	titin	14064	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGGCCAGAACCCAGGTCT	0.458																																																	0													86	84	84					2																	179483070		1920	4119	6039	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42192T>A	2.37:g.179483070A>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13137	ENST00000591111.1	37	c.39411		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179483070	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.108	T	T	179483070	A	T	179483070	2	4	19	1	0	0	0	0	0	0	0	1	16766	233	9	5		5	TTN	2	179483070	Silent	SNP	A	TCGA-C5-A1ME-01A-11D-A13W-08	20312774	179483070	63716303	14	2790										
CHRNG	1146	genome.wustl.edu	37	chr2	233406222	233406222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ttccccttcgactggcagaaCtgctcccttatcttccagtg	7	15	1	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:233406222C>A	ENST00000389494.3	+	5	510	c.489C>A	c.(487-489)aaC>aaA	p.N163K	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	163					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	ACTGGCAGAACTGCTCCCTTA	0.582																																																	0													192	167	176					2																	233406222		2203	4300	6503	SO:0001583	missense	1146			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.489C>A	2.37:g.233406222C>A	ENSP00000374145:p.Asn163Lys		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.N163K	ENST00000389494.3	37	c.489	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284082	0.80803	.	.	ENSG00000196811	ENST00000389494;ENST00000541596	T	0.79845	-1.31	4.75	4.75	0.60458	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	L	0.60904	1.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.87836	0.2648	10	0.87932	D	0	.	12.2448	0.54563	0.0:0.9173:0.0:0.0826	.	163	P07510	ACHG_HUMAN	K	163	ENSP00000374145:N163K	ENSP00000374145:N163K	N	+	3	2	CHRNG	233114466	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.343000	0.52167	2.180000	0.69256	0.462000	0.41574	AAC	CHRNG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel		0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	C	NM_005199		233406222	1	no_errors	ENST00000389494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	233406222	C	A	233406222	3	1	19	1	0	0	0	0	1	0	0	0	3401	564	20	4	507	4	CHRNG	2	233406222	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	53923152	233406222	9793151	15	2791										
GNAI2	2771	genome.wustl.edu	37	chr3	50293634	50293634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ccatccccagctacctgaacGacctggagcgtattgcacag	9	15	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr3:50293634G>A	ENST00000313601.6	+	5	859	c.475G>A	c.(475-477)Gac>Aac	p.D159N	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.D107N|GNAI2_ENST00000266027.5_Missense_Mutation_p.D143N|GNAI2_ENST00000451956.1_Missense_Mutation_p.D122N|GNAI2_ENST00000536647.1_Missense_Mutation_p.D78N|GNAI2_ENST00000422163.1_Missense_Mutation_p.D143N	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	159					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTACCTGAACGACCTGGAGCG	0.617																																																	0													74	54	61					3																	50293634		2202	4300	6502	SO:0001583	missense	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.475G>A	3.37:g.50293634G>A	ENSP00000312999:p.Asp159Asn		B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.D159N	ENST00000313601.6	37	c.475	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027926	0.75390	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.99	4.99	0.66335	G protein alpha subunit, helical insertion (2);	0.046951	0.85682	D	0.000000	T	0.82010	0.4944	L	0.35341	1.055	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.11329	0.006;0.002;0.006;0.002	T	0.76997	-0.2751	10	0.42905	T	0.14	.	16.5716	0.84613	0.0:0.0:1.0:0.0	.	122;159;143;143	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	N	143;159;78;159;107;122;143	ENSP00000406871:D143N;ENSP00000312999:D159N;ENSP00000444360:D78N;ENSP00000395736:D107N;ENSP00000406369:D122N;ENSP00000266027:D143N	ENSP00000266027:D143N	D	+	1	0	GNAI2	50268638	1.000000	0.71417	0.975000	0.42487	0.837000	0.47467	7.937000	0.87672	2.710000	0.92621	0.655000	0.94253	GAC	GNAI2	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.617	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	G	NM_002070		50293634	1	no_errors	ENST00000313601	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50293634	G	A	50293634	3	1	19	1	0	0	0	0	1	0	0	0	6524	1058	37	1	504	1	GNAI2	3	50293634	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		50293634	147728796	16	2792										
RASSF1	11186	genome.wustl.edu	37	chr3	50374657	50374657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tcgcgcggtgaagtactgctCgagctccgagtccgagtcct	13	13	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr3:50374657C>T	ENST00000327761.3	-	1	238	c.94G>A	c.(94-96)Gag>Aag	p.E32K	RASSF1_ENST00000395126.3_Intron|RASSF1_ENST00000357043.2_Intron|RASSF1_ENST00000488024.1_5'UTR|RASSF1_ENST00000359365.4_Intron	NM_170713.2	NP_733831.1			Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAGTACTGCTCGAGCTCCGAG	0.687																																																	0													45	44	44					3																	50374657		2203	4300	6503	SO:0001583	missense	11186			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000327761.3:c.94G>A	3.37:g.50374657C>T	ENSP00000333327:p.Glu32Lys			Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E32K	ENST00000327761.3	37	c.94	CCDS2821.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.066241	0.93898	.	.	ENSG00000068028	ENST00000327761	T	0.12039	2.72	4.51	4.51	0.55191	.	.	.	.	.	T	0.15869	0.0382	M	0.66939	2.045	0.80722	D	1	P	0.39748	0.686	B	0.33454	0.164	T	0.06881	-1.0802	9	0.30854	T	0.27	.	15.9509	0.79835	0.0:1.0:0.0:0.0	.	32	Q5TZT2	.	K	32	ENSP00000333327:E32K	ENSP00000333327:E32K	E	-	1	0	RASSF1	50349661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.386000	0.66238	2.335000	0.79485	0.549000	0.68633	GAG	RASSF1	-	NULL		0.687	RASSF1-007	KNOWN	basic|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000314309.1	C			50374657	-1	no_errors	ENST00000327761	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50374657	C	T	50374657	3	4	19	1	0	0	0	0	1	0	0	0	13114	893	31	1	738	1	RASSF1	3	50374657	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	81023	50374657	147647773	17	2793										
IQCF2	389123	genome.wustl.edu	37	chr3	51897275	51897275	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gtgctcaatgccatctacatCatccagggccactggcaatg	9	13	3	0			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr3:51897275C>T	ENST00000333127.3	+	3	413	c.384C>T	c.(382-384)atC>atT	p.I128I	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	128	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCATCTACATCATCCAGGGCC	0.577																																																	0													131	124	126					3																	51897275		2203	4300	6503	SO:0001819	synonymous_variant	389123			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.384C>T	3.37:g.51897275C>T				Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.I128	ENST00000333127.3	37	c.384	CCDS2835.1	3																																																																																			IQCF2	-	NULL		0.577	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF2	HGNC	protein_coding	OTTHUMT00000346594.1	C	NM_203424		51897275	1	no_errors	ENST00000333127	ensembl	human	known	70_37	silent	SNP	0.677	T	T	51897275	C	T	51897275	2	4	19	1	0	0	0	0	0	0	0	1	7828	816	29	1		1	IQCF2	3	51897275	Silent	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	1522618	51897275	146125155	18	2794										
TRPC3	7222	genome.wustl.edu	37	chr4	122828641	122828641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cagggaggatgtacgcaatcCgagagaagctgagcacaaca	13	9	0	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr4:122828641C>T	ENST00000379645.3	-	7	1947	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	TRPC3_ENST00000513531.1_Missense_Mutation_p.R497Q|TRPC3_ENST00000264811.5_Missense_Mutation_p.R552Q	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	540					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTACGCAATCCGAGAGAAGCT	0.448																																																	0													105	103	104					4																	122828641		2203	4299	6502	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1874G>A	4.37:g.122828641C>T	ENSP00000368966:p.Arg625Gln		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R625Q	ENST00000379645.3	37	c.1874	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.587083	0.96578	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.99607	-6.27;-6.27;-6.27	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99743	0.9898	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.97326	0.9947	10	0.87932	D	0	-26.7117	18.9622	0.92681	0.0:1.0:0.0:0.0	.	540;497;625	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	Q	552;625;497	ENSP00000264811:R552Q;ENSP00000368966:R625Q;ENSP00000426899:R497Q	ENSP00000264811:R552Q	R	-	2	0	TRPC3	123048091	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.729000	0.84864	2.465000	0.83290	0.655000	0.94253	CGG	TRPC3	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.448	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122828641	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122828641	C	T	122828641	3	4	19	1	0	0	0	0	1	0	0	0	16610	652	23	2	915	2	TRPC3	4	122828641	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		122828641	68325635	19	2795										
KIAA1109	84162	genome.wustl.edu	37	chr4	123227038	123227038	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	aaattttattttaggtttatGaggaagctggttctgatttt	9	2	1	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr4:123227038G>A	ENST00000264501.4	+	57	10052	c.9679G>A	c.(9679-9681)Gag>Aag	p.E3227K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3227K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3227K			Q2LD37	K1109_HUMAN	KIAA1109	3227					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTAGGTTTATGAGGAAGCTGG	0.289																																																	0													41	40	40					4																	123227038		1781	4056	5837	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9679G>A	4.37:g.123227038G>A	ENSP00000264501:p.Glu3227Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E3227K	ENST00000264501.4	37	c.9679	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337752	0.81911	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.36340	1.26;1.26;1.26	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	L	0.54323	1.7	0.49915	D	0.999837	B;P	0.38020	0.202;0.615	B;B	0.29267	0.084;0.1	T	0.34900	-0.9810	10	0.72032	D	0.01	.	19.3521	0.94393	0.0:0.0:1.0:0.0	.	3227;3227	Q2LD37-6;Q2LD37	.;K1109_HUMAN	K	3227	ENSP00000264501:E3227K;ENSP00000373390:E3227K;ENSP00000389925:E3227K	ENSP00000264501:E3227K	E	+	1	0	KIAA1109	123446488	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.913000	0.87471	2.588000	0.87417	0.655000	0.94253	GAG	KIAA1109	-	NULL		0.289	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123227038	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123227038	G	A	123227038	3	1	19	1	0	0	0	0	1	0	0	0	8228	1291	45	1	9897	1	KIAA1109	4	123227038	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	398397	123227038	67927238	20	2796										
ZNF193	7746	genome.wustl.edu	37	chr6	28194897	28194897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	aaaggaggttttatccctggGtgttcaagttcccgaggcat	12	8	1	0			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:28194897G>A	ENST00000252207.5	+	2	183	c.35G>A	c.(34-36)gGt>gAt	p.G12D	ZSCAN9_ENST00000531981.1_Missense_Mutation_p.G12D|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.G12D|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.G12D|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.G12D	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	12					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTATCCCTGGGTGTTCAAGTT	0.453																																																	0													57	55	56					6																	28194897		2203	4300	6503	SO:0001583	missense	7746			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.35G>A	6.37:g.28194897G>A	ENSP00000252207:p.Gly12Asp		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G12D	ENST00000252207.5	37	c.35	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.265894	0.00259	.	.	ENSG00000137185	ENST00000531941;ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.05580	3.42;3.45;3.45;4.5;3.57	2.91	1.76	0.24704	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47355	-0.9124	9	0.09590	T	0.72	.	4.339	0.11101	0.8298:0.0:0.1702:0.0	.	12;12	E7EVQ2;O15535	.;ZN193_HUMAN	D	12	ENSP00000404074:G12D;ENSP00000252207:G12D;ENSP00000433402:G12D;ENSP00000433468:G12D;ENSP00000436166:G12D	ENSP00000252207:G12D	G	+	2	0	ZNF193	28302876	0.002000	0.14202	0.004000	0.12327	0.082000	0.17680	0.017000	0.13399	0.519000	0.28406	-0.302000	0.09304	GGT	ZNF193	-	NULL		0.453	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF193	HGNC	protein_coding	OTTHUMT00000040183.2	G	NM_006299		28194897	1	no_errors	ENST00000252207	ensembl	human	known	70_37	missense	SNP	0.005	A	A	28194897	G	A	28194897	3	1	19	1	0	0	0	0	1	0	0	0	17787	1261	44	4	37	4	ZNF193	6	28194897	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		28194897	142920170	21	2797										
HLA-E	3133	genome.wustl.edu	37	chr6	30459060	30459060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cccaggacacggagctcgtgGagaccaggcctgcaggggat	16	12	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:30459060G>A	ENST00000376630.4	+	4	822	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	253	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GGAGCTCGTGGAGACCAGGCC	0.637																																																	0													107	98	101					6																	30459060		1511	2708	4219	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.757G>A	6.37:g.30459060G>A	ENSP00000365817:p.Glu253Lys		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E253K	ENST00000376630.4	37	c.757	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	13.75	2.330947	0.41297	.	.	ENSG00000204592	ENST00000376630	T	0.03004	4.08	1.67	1.67	0.24075	.	0.499317	0.14630	U	0.307851	T	0.10809	0.0264	M	0.93062	3.375	0.19945	N	0.999941	D;D	0.61697	0.99;0.99	D;D	0.75020	0.985;0.985	T	0.03840	-1.0999	10	0.87932	D	0	.	6.7735	0.23607	0.0:0.0:1.0:0.0	.	294;253	E7ENN9;Q6DU44	.;.	K	253	ENSP00000365817:E253K	ENSP00000365817:E253K	E	+	1	0	HLA-E	30567039	0.271000	0.24162	0.998000	0.56505	0.109000	0.19521	1.427000	0.34881	1.235000	0.43724	0.462000	0.41574	GAG	HLA-E	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.637	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	HGNC	protein_coding	OTTHUMT00000076282.2	G	NM_005516		30459060	1	no_errors	ENST00000376630	ensembl	human	known	70_37	missense	SNP	0.999	A	A	30459060	G	A	30459060	3	1	19	1	0	0	0	0	1	0	0	0	7230	1175	41	1	771	1	HLA-E	6	30459060	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	2264163	30459060	140656007	22	2798										
GPR111	222611	genome.wustl.edu	37	chr6	47646846	47646846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	atcactgacacctgccagacTcttaatgccctcaacatctt	4	15	4	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:47646846T>C	ENST00000296862.1	+	4	447	c.447T>C	c.(445-447)acT>acC	p.T149T	GPR111_ENST00000507065.1_Silent_p.T81T|GPR111_ENST00000398742.2_Silent_p.T81T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	149					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTGCCAGACTCTTAATGCCC	0.458																																																	0													122	116	118					6																	47646846		1984	4167	6151	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.447T>C	6.37:g.47646846T>C			Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T149	ENST00000296862.1	37	c.447		6																																																																																			GPR111	-	NULL		0.458	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	T	NM_153839		47646846	1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.195	C	C	47646846	T	C	47646846	2	2	19	1	0	0	0	0	0	0	0	1	6647	1538	54	5		5	GPR111	6	47646846	Silent	SNP	T	TCGA-C5-A1ME-01A-11D-A13W-08	17187786	47646846	123468221	23	2799										
INTS1	26173	genome.wustl.edu	37	chr7	1517492	1517492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	acaggctggaaacggggaggCagcatccgcagtggcagaga	17	9	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr7:1517492C>T	ENST00000404767.3	-	34	4796	c.4711G>A	c.(4711-4713)Gcc>Acc	p.A1571T	INTS1_ENST00000389470.4_Missense_Mutation_p.A1770T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1571					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AACGGGGAGGCAGCATCCGCA	0.657																																																	0													33	41	38					7																	1517492		2120	4222	6342	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4711G>A	7.37:g.1517492C>T	ENSP00000385722:p.Ala1571Thr		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A1770T	ENST00000404767.3	37	c.5308	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	2.018	-0.425555	0.04701	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44881	0.94;0.91	4.46	-2.19	0.07015	.	0.450854	0.25726	N	0.028718	T	0.11623	0.0283	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26087	-1.0113	10	0.13853	T	0.58	.	4.7613	0.13110	0.2609:0.2112:0.0:0.5278	.	1571	Q8N201	INT1_HUMAN	T	1571;1770	ENSP00000385722:A1571T;ENSP00000374121:A1770T	ENSP00000374121:A1770T	A	-	1	0	INTS1	1484018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.212000	0.09319	-0.249000	0.09569	-0.258000	0.10820	GCC	INTS1	-	NULL		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1517492	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1517492	C	T	1517492	3	4	19	1	0	0	0	0	1	0	0	0	7795	710	25	4	1921	4	INTS1	7	1517492	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		1517492	157621171	24	2800										
ZNF277	11179	genome.wustl.edu	37	chr7	111846857	111846857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cacagtcgggggtgtaggttAtgggggtgagtacggtgccc	19	7	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr7:111846857A>G	ENST00000361822.3	+	1	215	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	DOCK4_ENST00000428084.1_5'Flank|ZNF277_ENST00000450657.1_Missense_Mutation_p.Y29C|DOCK4_ENST00000476846.1_5'Flank|ZNF277_ENST00000421043.1_Missense_Mutation_p.Y29C|DOCK4_ENST00000437633.1_5'Flank	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	29					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGTGTAGGTTATGGGGGTGAG	0.612																																																	0													36	39	38					7																	111846857		2203	4300	6503	SO:0001583	missense	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.86A>G	7.37:g.111846857A>G	ENSP00000354501:p.Tyr29Cys		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y29C	ENST00000361822.3	37	c.86	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089154	0.36855	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T	0.30981	1.53;1.51	5.25	1.56	0.23342	.	1.598550	0.03641	N	0.239580	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19582	-1.0301	10	0.41790	T	0.15	0.3064	3.2303	0.06746	0.6156:0.0:0.1897:0.1947	.	29;29	Q9NRM2;G5E9M4	ZN277_HUMAN;.	C	29	ENSP00000354501:Y29C;ENSP00000402292:Y29C	ENSP00000354501:Y29C	Y	+	2	0	ZNF277	111634093	0.003000	0.15002	0.125000	0.21846	0.672000	0.39443	-0.151000	0.10175	0.112000	0.17975	0.533000	0.62120	TAT	ZNF277	-	NULL		0.612	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	A	NM_021994		111846857	1	no_errors	ENST00000361822	ensembl	human	known	70_37	missense	SNP	0.143	G	G	111846857	A	G	111846857	3	3	19	1	0	0	0	0	1	0	0	0	17842	449	16	5	88	5	ZNF277	7	111846857	Missense_Mutation	SNP	A	TCGA-C5-A1ME-01A-11D-A13W-08	110329365	111846857	47291806	25	2801										
MGAM	8972	genome.wustl.edu	37	chr7	141802440	141802440	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ttgtttgcagatacctatggGaaaggactctattacttggc	10	7	1	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr7:141802440G>C	ENST00000549489.2	+	46	5381	c.5286G>C	c.(5284-5286)ggG>ggC	p.G1762G	MGAM_ENST00000475668.2_Silent_p.G2658G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418																																																	0													158	144	148					7																	141802440		1889	4122	6011	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5286G>C	7.37:g.141802440G>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.G1762	ENST00000549489.2	37	c.5286	CCDS47727.1	7																																																																																			MGAM	-	NULL		0.418	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141802440	1	no_errors	ENST00000549489	ensembl	human	known	70_37	silent	SNP	0.012	C	C	141802440	G	C	141802440	2	2	19	1	0	0	0	0	0	0	0	1	9564	1161	41	1		1	MGAM	7	141802440	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	29955583	141802440	17336223	26	2802										
TESK1	7016	genome.wustl.edu	37	chr9	35608000	35608000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cagaccctgactacctaccaCgcactgaggtgaatgtttct	8	13	1	4			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr9:35608000C>T	ENST00000336395.5	+	7	1037	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTACCTACCACGCACTGAGGT	0.512																																																	0													101	97	98					9																	35608000		2203	4300	6503	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.787C>T	9.37:g.35608000C>T	ENSP00000338127:p.Arg263Cys		Q8IXZ8	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R263C	ENST00000336395.5	37	c.787	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012765	0.75161	.	.	ENSG00000107140	ENST00000336395	T	0.34859	1.34	5.29	5.29	0.74685	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000774	T	0.63861	0.2547	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69351	-0.5168	10	0.87932	D	0	-10.269	15.6615	0.77190	0.0:1.0:0.0:0.0	.	181;263	B4DQQ3;Q15569	.;TESK1_HUMAN	C	263	ENSP00000338127:R263C	ENSP00000338127:R263C	R	+	1	0	TESK1	35598000	1.000000	0.71417	0.986000	0.45419	0.845000	0.48019	3.389000	0.52516	2.465000	0.83290	0.561000	0.74099	CGC	TESK1	-	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		0.512	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	C	NM_006285		35608000	1	no_errors	ENST00000336395	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35608000	C	T	35608000	3	4	19	1	0	0	0	0	1	0	0	0	15797	536	19	2	813	2	TESK1	9	35608000	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		35608000	105605431	27	2803										
KIF12	113220	genome.wustl.edu	37	chr9	116854239	116854239	+	Frame_Shift_Del	DEL	G	G	-													0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gctgccaatctggtctctgaGggcctccagtctctgggcca							TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr9:116854239delG	ENST00000374118.3	-	16	1681	c.1444delC	c.(1444-1446)ctcfs	p.L482fs	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	615	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGTCTCTGAGGGCCTCCAGT	0.672																																																	0													33	35	34					9																	116854239		2203	4300	6503	SO:0001589	frameshift_variant	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1444delC	9.37:g.116854239delG	ENSP00000363232:p.Leu482fs		Q5TBE0	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L615fs	ENST00000374118.3	37	c.1843	CCDS6801.1	9																																																																																			KIF12	-	NULL		0.672	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116854239	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	116854239	G	-	116854239	7	5	19	1	0	1	0	1	0	0	0	0	8293	1000	35	0	101	0	KIF12	9	116854239	Frame_Shift_Del	DEL	G	TCGA-C5-A1ME-01A-11D-A13W-08	81246239	116854239	24359192	28	2804										
TSC1	7248	genome.wustl.edu	37	chr9	135801105	135801105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ggcggctttgcccacatattCgttaatcctgtccaagaggt	10	11	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr9:135801105C>T	ENST00000298552.3	-	5	453	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TSC1_ENST00000403810.1_Missense_Mutation_p.E78K|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Intron|TSC1_ENST00000440111.2_Missense_Mutation_p.E78K	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	78					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCCACATATTCGTTAATCCTG	0.443			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	0													88	81	83					9																	135801105		2203	4300	6503	SO:0001583	missense	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.232G>A	9.37:g.135801105C>T	ENSP00000298552:p.Glu78Lys		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.E78K	ENST00000298552.3	37	c.232	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.325270	0.95708	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000403810	D;D;D	0.88664	-2.41;-2.41;-2.41	5.35	5.35	0.76521	.	0.091398	0.85682	D	0.000000	D	0.92551	0.7634	M	0.76328	2.33	0.80722	D	1	P;D;D;P	0.60160	0.949;0.971;0.987;0.812	B;P;P;B	0.54431	0.433;0.589;0.752;0.407	D	0.92966	0.6393	10	0.56958	D	0.05	-11.9226	18.0569	0.89366	0.0:1.0:0.0:0.0	.	78;78;78;78	Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	K	78	ENSP00000298552:E78K;ENSP00000394524:E78K;ENSP00000386093:E78K	ENSP00000298552:E78K	E	-	1	0	TSC1	134790926	1.000000	0.71417	0.962000	0.40283	0.865000	0.49528	7.625000	0.83145	2.522000	0.85027	0.655000	0.94253	GAA	TSC1	-	pfam_Hamartin,superfamily_ARM-type_fold		0.443	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	C			135801105	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135801105	C	T	135801105	3	4	19	1	0	0	0	0	1	0	0	0	16636	893	31	1	3338	1	TSC1	9	135801105	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	18946866	135801105	5412326	29	2805										
FAM107B	83641	genome.wustl.edu	37	chr10	14816480	14816480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cttgggtgtcttggctgtctGcctgctttggccacaggctg	14	11	2	0	rs574031893		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr10:14816480G>A	ENST00000181796.2	-	1	416	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGGCTGTCTGCCTGCTTTGG	0.547													G|||	1	0.000199681	0	0	5008	,	,		18741	0.001		0	False		,,,				2504	0																0													113	101	105					10																	14816480		2203	4300	6503	SO:0001819	synonymous_variant	83641			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.183C>T	10.37:g.14816480G>A			A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	pfam_DUF1151	p.G61	ENST00000181796.2	37	c.183	CCDS7102.1	10																																																																																			FAM107B	-	NULL		0.547	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	G	NM_031453		14816480	-1	no_errors	ENST00000181796	ensembl	human	known	70_37	silent	SNP	0.000	A	A	14816480	G	A	14816480	2	1	19	1	0	0	0	0	0	0	0	1	5405	1306	46	4		4	FAM107B	10	14816480	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		14816480	120718267	30	2806										
PARD3	56288	genome.wustl.edu	37	chr10	34739377	34739377	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cttctgtagttttcatctttCtattcaaaaagaaacaaaaa	3	7	5	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr10:34739377C>G	ENST00000374789.3	-	5	908		c.e5-1		PARD3_ENST00000340077.5_Splice_Site|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000374773.1_Splice_Site|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374788.3_Splice_Site|PARD3_ENST00000545693.1_Splice_Site|PARD3_ENST00000346874.4_Splice_Site|PARD3_ENST00000350537.4_Splice_Site|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374776.1_Splice_Site	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator						apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTTCATCTTTCTATTCAAAAA	0.398																																																	0													58	59	58					10																	34739377		2203	4300	6503	SO:0001630	splice_region_variant	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.583-1G>C	10.37:g.34739377C>G			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Splice_Site	SNP	-	e5-1	ENST00000374789.3	37	c.583-1	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287765	0.80803	.	.	ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000350537;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8969	0.96969	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARD3	34779383	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.559000	0.45888	2.799000	0.96334	0.650000	0.86243	.	PARD3	-	-		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619	Intron	34739377	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	34739377	C	G	34739377	5	3	19	1	0	0	0	0	0	0	1	0	11467	927	32	1	3607	1	PARD3	10	34739377	Splice_Site	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	19922897	34739377	100795370	31	2807										
MGEA5	10724	genome.wustl.edu	37	chr10	103557892	103557892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tctcttcaaacttggctgctCgtgaccgccattcttcaatc	6	14	4	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr10:103557892C>A	ENST00000361464.3	-	10	2224	c.1829G>T	c.(1828-1830)cGa>cTa	p.R610L	MGEA5_ENST00000439817.1_Missense_Mutation_p.R557L|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.R557L|MGEA5_ENST00000370094.3_Missense_Mutation_p.R610L	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	610					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGGCTGCTCGTGACCGCCA	0.388																																																	0													101	92	95					10																	103557892		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1829G>T	10.37:g.103557892C>A	ENSP00000354850:p.Arg610Leu		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.R610L	ENST00000361464.3	37	c.1829	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835498	0.91117	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.50001	0.96;0.93;0.89;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.74023	0.918;0.975;0.982;0.96	T	0.75007	-0.3469	10	0.87932	D	0	-7.8837	19.9575	0.97228	0.0:1.0:0.0:0.0	.	557;557;610;610	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	L	557;610;557;610	ENSP00000409973:R557L;ENSP00000354850:R610L;ENSP00000350445:R557L;ENSP00000359112:R610L	ENSP00000350445:R557L	R	-	2	0	MGEA5	103547882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.015000	0.70791	2.721000	0.93114	0.655000	0.94253	CGA	MGEA5	-	NULL		0.388	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	C	NM_012215		103557892	-1	no_errors	ENST00000361464	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103557892	C	A	103557892	3	1	19	1	0	0	0	0	1	0	0	0	9578	884	31	3	949	3	MGEA5	10	103557892	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	68818515	103557892	31976855	32	2808										
WNK1	65125	genome.wustl.edu	37	chr12	978057	978057	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tattccagtgattcctcacaAatcacttcttcagaccccag	4	14	4	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:978057A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Silent_p.Q1140Q|WNK1_ENST00000537687.1_Silent_p.Q1055Q|WNK1_ENST00000574564.1_Silent_p.Q354Q|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATTCCTCACAAATCACTTCTT	0.498																																					Colon(19;451 567 6672 12618 28860)												0													112	111	111					12																	978057		1862	4101	5963	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2374A>G	12.37:g.978057A>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1140	ENST00000315939.6	37	c.3420	CCDS8506.1	12																																																																																			WNK1	-	NULL		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	A	NM_018979		978057	1	no_errors	ENST00000530271	ensembl	human	known	70_37	silent	SNP	0.841	G	G	978057	A	G	978057	1	3	19	0	1	0	0	0	0	0	0	0	17408	11	1	5		5	WNK1	12	978057	Intron	SNP	A	TCGA-C5-A1ME-01A-11D-A13W-08		978057	132873838	33	2809										
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25398284	C	T	25398284	3	4	19	1	0	0	0	0	1	0	0	0	8458	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	24420227	25398284	108453611	34	2810										
RAB3IP	117177	genome.wustl.edu	37	chr12	70178523	70178523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ctgaagttaaaagatgaagaAtgtgagaggctttcaaaagt	11	3	1	5			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:70178523A>C	ENST00000247833.7	+	4	910	c.534A>C	c.(532-534)gaA>gaC	p.E178D	RAB3IP_ENST00000550536.1_Missense_Mutation_p.E194D|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E178D|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E178D|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E194D|RAB3IP_ENST00000551641.1_5'UTR					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGATGAAGAATGTGAGAGGC	0.348																																																	0													109	105	106					12																	70178523		2203	4300	6503	SO:0001583	missense	117177				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.534A>C	12.37:g.70178523A>C	ENSP00000247833:p.Glu178Asp			Missense_Mutation	SNP	pfam_Sec2p	p.E194D	ENST00000247833.7	37	c.582	CCDS8995.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.273256|4.273256	0.80580|0.80580	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000550536;ENST00000362025;ENST00000547055|ENST00000550647	T;T;T;T;T;T|.	0.47528|.	0.84;0.96;0.84;0.84;0.84;0.84|.	5.87|5.87	2.46|2.46	0.29980|0.29980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69628|0.69628	0.3132|0.3132	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.992;0.999;0.998|.	D;D;D;D|.	0.79784|.	0.993;0.989;0.993;0.99|.	T|T	0.65397|0.65397	-0.6178|-0.6178	10|5	0.59425|.	D|.	0.04|.	.|.	8.5603|8.5603	0.33507|0.33507	0.8034:0.0:0.1966:0.0|0.8034:0.0:0.1966:0.0	.|.	194;194;178;178|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	D|L	178;178;178;194;194;55|68	ENSP00000247833:E178D;ENSP00000368092:E178D;ENSP00000419216:E178D;ENSP00000447300:E194D;ENSP00000355381:E194D;ENSP00000448688:E55D|.	ENSP00000247833:E178D|.	E|M	+|+	3|1	2|0	RAB3IP|RAB3IP	68464790|68464790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.466000|4.466000	0.60148|0.60148	0.213000|0.213000	0.20722|0.20722	0.482000|0.482000	0.46254|0.46254	GAA|ATG	RAB3IP	-	pfam_Sec2p		0.348	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	HGNC	protein_coding	OTTHUMT00000280671.2	A	NM_022456		70178523	1	no_errors	ENST00000550536	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70178523	A	C	70178523	3	2	19	1	0	0	0	0	1	0	0	0	12968	98	4	5	596	5	RAB3IP	12	70178523	Missense_Mutation	SNP	A	TCGA-C5-A1ME-01A-11D-A13W-08	44780239	70178523	63673372	35	2811										
NTN4	59277	genome.wustl.edu	37	chr12	96063914	96063914	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	taatgtctgttccttacattCgcatttacctatggaaagta	6	8	1	0	rs375475179		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:96063914C>A	ENST00000343702.4	-	8	1967	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	NTN4_ENST00000553059.1_Intron|NTN4_ENST00000538383.1_Nonsense_Mutation_p.E470*|NTN4_ENST00000344911.4_Nonsense_Mutation_p.E470*|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	507	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCCTTACATTCGCATTTACCT	0.338																																																	0													99	88	92					12																	96063914		2203	4300	6503	SO:0001587	stop_gained	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1519G>T	12.37:g.96063914C>A	ENSP00000340998:p.Glu507*		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Nonsense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.E507*	ENST00000343702.4	37	c.1519	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.052462	0.97236	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383	.	.	.	5.98	5.98	0.97165	.	0.233723	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	X	507;470;470	.	ENSP00000340998:E507X	E	-	1	0	NTN4	94588045	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	4.822000	0.62686	2.838000	0.97847	0.591000	0.81541	GAA	NTN4	-	superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain		0.338	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	C	NM_021229		96063914	-1	no_errors	ENST00000343702	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	96063914	C	A	96063914	4	1	19	1	0	0	0	0	0	1	0	0	10726	893	31	3	379	3	NTN4	12	96063914	Nonsense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	25885391	96063914	37787981	36	2812										
C14orf106	55320	genome.wustl.edu	37	chr14	45706865	45706865	+	Frame_Shift_Del	DEL	T	T	-													0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	acttacatcaattttccttcTacacatatagcagtattatt							TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr14:45706865delT	ENST00000310806.4	-	5	1661	c.1203delA	c.(1201-1203)gtafs	p.V401fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	401					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTCCTTCTACACATATAG	0.279																																																	0													62	63	62					14																	45706865		2202	4287	6489	SO:0001589	frameshift_variant	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1203delA	14.37:g.45706865delT	ENSP00000309790:p.Val401fs		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E402fs	ENST00000310806.4	37	c.1203	CCDS9684.1	14																																																																																			MIS18BP1	-	pfam_SANTA		0.279	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	T			45706865	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-	-	45706865	T	-	45706865	7	5	19	1	0	1	0	1	0	0	0	0	1742	1509	53	0	2247	0	C14orf106	14	45706865	Frame_Shift_Del	DEL	T	TCGA-C5-A1ME-01A-11D-A13W-08		45706865	61642675	37	2813										
C14orf39	317761	genome.wustl.edu	37	chr14	60933701	60933701	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tttctgagattcataaggaaGaaataattgactgctttgag	9	4	2	4			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr14:60933701G>A	ENST00000321731.3	-	10	988	c.829C>T	c.(829-831)Ctt>Ttt	p.L277F		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	277					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATAAGGAAGAAATAATTGA	0.279																																																	0													71	70	70					14																	60933701		2199	4289	6488	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.829C>T	14.37:g.60933701G>A	ENSP00000324920:p.Leu277Phe		Q08AQ4	Missense_Mutation	SNP	NULL	p.L277F	ENST00000321731.3	37	c.829	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	g	18.62	3.664060	0.67700	.	.	ENSG00000179008	ENST00000321731	T	0.37058	1.22	5.29	4.37	0.52481	.	0.367497	0.22432	N	0.060136	T	0.51719	0.1691	M	0.62723	1.935	0.34827	D	0.739323	D	0.69078	0.997	D	0.64410	0.925	T	0.62435	-0.6855	10	0.37606	T	0.19	-3.5403	10.9436	0.47287	0.0:0.0:0.8133:0.1867	.	277	Q8N1H7	S6OS1_HUMAN	F	277	ENSP00000324920:L277F	ENSP00000324920:L277F	L	-	1	0	C14orf39	60003454	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	1.898000	0.39809	1.412000	0.46977	0.580000	0.79431	CTT	C14orf39	-	NULL		0.279	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	G	NM_174978		60933701	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	60933701	G	A	60933701	3	1	19	1	0	0	0	0	1	0	0	0	1776	942	33	1	970	1	C14orf39	14	60933701	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	15226836	60933701	46415839	38	2814										
SLC8A3	6547	genome.wustl.edu	37	chr14	70512940	70512940	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gccacggaccaggccaggccGatgcccaggaagacattgac	13	14	0	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr14:70512940G>A	ENST00000381269.2	-	8	3261	c.2508C>T	c.(2506-2508)atC>atT	p.I836I	SLC8A3_ENST00000528359.1_Silent_p.I834I|SLC8A3_ENST00000534137.1_Silent_p.I833I|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000357887.3_Silent_p.I834I|SLC8A3_ENST00000356921.2_Silent_p.I830I|SLC8A3_ENST00000216568.7_Silent_p.I207I|SLC8A3_ENST00000394330.2_Silent_p.I193I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	836					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGCCAGGCCGATGCCCAGGA	0.617											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	42	43					14																	70512940		2203	4300	6503	SO:0001819	synonymous_variant	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2508C>T	14.37:g.70512940G>A		1122	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.I836	ENST00000381269.2	37	c.2508	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.617	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	G			70512940	-1	no_errors	ENST00000381269	ensembl	human	known	70_37	silent	SNP	0.817	A	A	70512940	G	A	70512940	2	1	19	1	0	0	0	0	0	0	0	1	14738	1048	37	1		1	SLC8A3	14	70512940	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	9579239	70512940	36836600	39	2815										
KIAA1370	56204	genome.wustl.edu	37	chr15	52877015	52877015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tttattaacacttctcttcaCttcttgtttaacaggtacag	4	9	3	0			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr15:52877015C>T	ENST00000261844.7	-	12	3156	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.V1009M	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1002																	CTTCTCTTCACTTCTTGTTTA	0.358																																																	0													152	150	151					15																	52877015		1860	4098	5958	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3004G>A	15.37:g.52877015C>T	ENSP00000261844:p.Val1002Met		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.V1002M	ENST00000261844.7	37	c.3004	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894113	0.17613	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.28895	1.59;1.59	5.09	1.18	0.20946	.	0.412476	0.30840	N	0.008769	T	0.09113	0.0225	N	0.03608	-0.345	0.22446	N	0.999098	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36286	-0.9754	10	0.02654	T	1	.	5.5008	0.16827	0.1279:0.1445:0.0:0.7275	.	1009;1002	F5H8G0;Q32MH5	.;K1370_HUMAN	M	1002;1002;1009	ENSP00000261844:V1002M;ENSP00000443598:V1009M	ENSP00000261844:V1002M	V	-	1	0	KIAA1370	50664307	0.741000	0.28217	0.723000	0.30687	0.945000	0.59286	-0.114000	0.10757	0.036000	0.15547	-0.670000	0.03821	GTG	FAM214A	-	NULL		0.358	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52877015	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	0.979	T	T	52877015	C	T	52877015	3	4	19	1	0	0	0	0	1	0	0	0	8246	565	20	4	234	4	KIAA1370	15	52877015	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		52877015	49654377	40	2816										
IRX6	79190	genome.wustl.edu	37	chr16	55362886	55362886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gaagctgacttcctctcggcGgagacaggcagccctaggtt	13	12	1	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:55362886G>A	ENST00000290552.7	+	5	2328	c.996G>A	c.(994-996)gcG>gcA	p.A332A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	332					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCCTCTCGGCGGAGACAGGCA	0.632																																																	0													43	44	44					16																	55362886		2198	4298	6496	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.996G>A	16.37:g.55362886G>A			B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A332	ENST00000290552.7	37	c.996	CCDS32449.1	16																																																																																			IRX6	-	NULL		0.632	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	G	NM_024335		55362886	1	no_errors	ENST00000290552	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55362886	G	A	55362886	2	1	19	1	0	0	0	0	0	0	0	1	7868	1103	39	2		2	IRX6	16	55362886	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		55362886	34991867	41	2817										
CDH11	1009	genome.wustl.edu	37	chr16	65022100	65022100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cctcctgtgtttcatagtccGttgtgatttcaaacgattcc	7	11	2	1	rs373083222		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:65022100G>A	ENST00000268603.4	-	7	1574	c.959C>T	c.(958-960)aCg>aTg	p.T320M	CDH11_ENST00000566827.1_Missense_Mutation_p.T194M|CDH11_ENST00000394156.3_Missense_Mutation_p.T320M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T320M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCATAGTCCGTTGTGATTTC	0.438			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	central_nervous_system(1)						G	MET/THR	0,4406		0,0,2203	369	309	330		959	5.7	1	16		330	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH11	NM_001797.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/797	65022100	1,13005	2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.959C>T	16.37:g.65022100G>A	ENSP00000268603:p.Thr320Met		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T320M	ENST00000268603.4	37	c.959	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474482	0.84640	0.0	1.16E-4	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01725	4.67;4.67	5.65	5.65	0.86999	Cadherin (4);Cadherin-like (1);	0.094460	0.64402	D	0.000001	T	0.17662	0.0424	H	0.95402	3.665	0.45076	D	0.998098	D;D	0.69078	0.997;0.997	P;D	0.66847	0.862;0.947	T	0.04767	-1.0928	10	0.87932	D	0	.	18.7081	0.91646	0.0:0.0:1.0:0.0	.	320;320	P55287-2;P55287	.;CAD11_HUMAN	M	320;320;303	ENSP00000268603:T320M;ENSP00000377711:T320M	ENSP00000268603:T320M	T	-	2	0	CDH11	63579601	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	7.695000	0.84257	2.665000	0.90641	0.650000	0.86243	ACG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		65022100	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	missense	SNP	0.997	A	A	65022100	G	A	65022100	3	1	19	1	0	0	0	0	1	0	0	0	3102	1145	40	2	1459	2	CDH11	16	65022100	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	9659214	65022100	25332653	42	2818										
ATP6V0D1	9114	genome.wustl.edu	37	chr16	67514899	67514899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	caccaggttgaggtagtcggCctggctgagcaccccggcct	14	14	0	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:67514899C>T	ENST00000290949.3	-	1	241	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.A31T|RP11-297D21.4_ENST00000602596.1_RNA	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	31					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGGTAGTCGGCCTGGCTGAGC	0.642																																																	0													52	53	53					16																	67514899		2198	4300	6498	SO:0001583	missense	9114			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.91G>A	16.37:g.67514899C>T	ENSP00000290949:p.Ala31Thr		P12953|Q02547	Missense_Mutation	SNP	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.A31T	ENST00000290949.3	37	c.91	CCDS10838.1	16	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146143	0.57044	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.31510	1.49;1.49	5.91	1.5	0.22942	.	0.228607	0.44097	D	0.000481	T	0.14570	0.0352	N	0.21617	0.685	0.50171	D	0.999859	B;B	0.19200	0.034;0.0	B;B	0.18561	0.022;0.002	T	0.07908	-1.0748	10	0.15066	T	0.55	-5.7319	3.6601	0.08236	0.2301:0.5214:0.1124:0.1361	.	31;31	F5GYQ1;P61421	.;VA0D1_HUMAN	T	31	ENSP00000290949:A31T;ENSP00000441282:A31T	ENSP00000290949:A31T	A	-	1	0	ATP6V0D1	66072400	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	1.246000	0.32803	0.823000	0.34589	0.655000	0.94253	GCC	ATP6V0D1	-	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu		0.642	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D1	HGNC	protein_coding	OTTHUMT00000268835.1	C	NM_004691		67514899	-1	no_errors	ENST00000290949	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67514899	C	T	67514899	3	4	19	1	0	0	0	0	1	0	0	0	1174	739	26	4	996	4	ATP6V0D1	16	67514899	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	2492799	67514899	22839854	43	2819										
FA2H	79152	genome.wustl.edu	37	chr16	74752969	74752969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cttcatgtggaacaggaagcGgtggatgaggtactcgatga	15	6	1	2	rs387907039		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:74752969G>A	ENST00000219368.3	-	5	772	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	FA2H_ENST00000544337.1_Missense_Mutation_p.R22C	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	235			R -> C (in SPG35; significantly reduced enzymatic function). {ECO:0000269|PubMed:20104589}.		cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AACAGGAAGCGGTGGATGAGG	0.607																																																	0													89	79	82					16																	74752969		2198	4300	6498	SO:0001583	missense	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.703C>T	16.37:g.74752969G>A	ENSP00000219368:p.Arg235Cys		B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5,prints_Cyt_B5	p.R235C	ENST00000219368.3	37	c.703	CCDS10911.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525891	0.85600	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.88277	-2.36;-2.36	5.36	4.4	0.53042	Fatty acid hydroxylase (1);	0.048157	0.85682	D	0.000000	D	0.95683	0.8596	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.95562	0.8630	10	0.87932	D	0	-10.2475	8.5166	0.33250	0.0769:0.0:0.7698:0.1533	.	235	Q7L5A8	FA2H_HUMAN	C	235;22	ENSP00000219368:R235C;ENSP00000442334:R22C	ENSP00000219368:R235C	R	-	1	0	FA2H	73310470	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.477000	0.73591	2.509000	0.84616	0.561000	0.74099	CGC	FA2H	-	pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase		0.607	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2	G	NM_024306		74752969	-1	no_errors	ENST00000219368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74752969	G	A	74752969	3	1	19	1	0	0	0	0	1	0	0	0	5367	1116	39	2	427	2	FA2H	16	74752969	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	7238070	74752969	15601784	44	2820										
NLE1	54475	genome.wustl.edu	37	chr17	33467052	33467052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tgaggagacgatctcagcatCgtggacaaagaaagccagtg	13	8	1	3	rs144542845	byFrequency	TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:33467052C>T	ENST00000442241.4	-	3	235	c.196G>A	c.(196-198)Gat>Aat	p.D66N	NLE1_ENST00000360831.5_Missense_Mutation_p.D66N|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	66					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ATCTCAGCATCGTGGACAAAG	0.552													C|||	5	0.000998403	0	0	5008	,	,		17840	0		0	False		,,,				2504	0.0051																0								C	,ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	75	64	68		,196	5.2	0.2	17	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	yes	utr-5,missense	NLE1	NM_001014445.1,NM_018096.3	,23	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	,benign	,66/486	33467052	7,12999	2203	4300	6503	SO:0001583	missense	54475				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.196G>A	17.37:g.33467052C>T	ENSP00000413572:p.Asp66Asn		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B	p.D66N	ENST00000442241.4	37	c.196	CCDS11291.1	17	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568506	0.65651	6.81E-4	4.65E-4	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.58358	0.34	5.22	5.22	0.72569	NLE (1);	0.045134	0.85682	D	0.000000	T	0.47857	0.1468	L	0.49126	1.545	0.47994	D	0.999568	B	0.22211	0.066	B	0.17979	0.02	T	0.35301	-0.9794	10	0.27082	T	0.32	-12.3427	16.3212	0.82951	0.0:1.0:0.0:0.0	.	66	Q9NVX2	NLE1_HUMAN	N	66	ENSP00000413572:D66N	ENSP00000413572:D66N	D	-	1	0	NLE1	30491165	0.998000	0.40836	0.151000	0.22473	0.938000	0.57974	5.537000	0.67186	2.732000	0.93576	0.650000	0.86243	GAT	NLE1	-	pfam_NLE		0.552	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	C	NM_018096		33467052	-1	no_errors	ENST00000442241	ensembl	human	known	70_37	missense	SNP	0.047	T	T	33467052	C	T	33467052	3	4	19	1	0	0	0	0	1	0	0	0	10484	884	31	1	1305	1	NLE1	17	33467052	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		33467052	47728158	45	2821										
SLFN5	162394	genome.wustl.edu	37	chr17	33591389	33591390	+	Frame_Shift_Ins	INS	-	-	A													0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gagtcatctgtgatgctcttINSctaatttcccagaacaacac							TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:33591389_33591390insA	ENST00000299977.4	+	4	1474_1475	c.1326_1327insA	c.(1327-1329)ctafs	p.L443fs	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	443					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGATGCTCTTCTAATTTCCCA	0.45																																																	0																																										SO:0001589	frameshift_variant	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		Exception_encountered	17.37:g.33591389_33591390insA	ENSP00000299977:p.Leu443fs		Q08AF2|Q8WU54|Q96A82	Frame_Shift_Ins	INS	pfam_ATPase_AAA-4,pfam_DUF2075	p.L442fs	ENST00000299977.4	37	c.1326_1327	CCDS32619.1	17																																																																																			SLFN5	-	NULL		0.45	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	-	NM_144975		33591390	1	no_errors	ENST00000299977	ensembl	human	known	70_37	frame_shift_ins	INS	0.903:0.855	A	A	33591390	-	A	33591389	7	5	19	1	0	1	1	0	0	0	0	0	14767	1770	62	0	1336	0	SLFN5	17	33591389	Frame_Shift_Ins	INS	-	TCGA-C5-A1ME-01A-11D-A13W-08	124337	33591389	47603821	46	2822										
KRT31	3881	genome.wustl.edu	37	chr17	39553231	39553231	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ccacaagcctggcattctcaGacttggtacacaggatctgg	10	12	2	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:39553231G>A	ENST00000251645.2	-	2	417	c.365C>T	c.(364-366)tCt>tTt	p.S122F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	122	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGCATTCTCAGACTTGGTACA	0.428																																																	0													96	88	91					17																	39553231		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.365C>T	17.37:g.39553231G>A	ENSP00000251645:p.Ser122Phe		Q9UE12	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S122F	ENST00000251645.2	37	c.365	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	g	16.90	3.250996	0.59212	.	.	ENSG00000094796	ENST00000251645	D	0.89552	-2.53	5.26	5.26	0.73747	Filament (1);	0.232574	0.30695	N	0.009075	D	0.89784	0.6815	M	0.79805	2.47	0.09310	N	1	P	0.35527	0.507	B	0.42625	0.393	D	0.85359	0.1106	10	0.72032	D	0.01	.	7.6863	0.28542	0.1791:0.0:0.8209:0.0	.	122	Q15323	K1H1_HUMAN	F	122	ENSP00000251645:S122F	ENSP00000251645:S122F	S	-	2	0	KRT31	36806757	0.000000	0.05858	0.993000	0.49108	0.930000	0.56654	0.137000	0.15995	2.458000	0.83093	0.655000	0.94253	TCT	KRT31	-	pfam_F		0.428	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	G	NM_002277		39553231	-1	no_errors	ENST00000251645	ensembl	human	known	70_37	missense	SNP	0.005	A	A	39553231	G	A	39553231	3	1	19	1	0	0	0	0	1	0	0	0	8487	942	33	1	909	1	KRT31	17	39553231	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	5961842	39553231	41641979	47	2823										
ABCC3	8714	genome.wustl.edu	37	chr17	48750921	48750921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	acaggtgtctgagatgggccCgtacccagccctgctgcagc	13	14	1	1	rs369718940		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:48750921C>T	ENST00000285238.8	+	19	2581	c.2501C>T	c.(2500-2502)cCg>cTg	p.P834L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	834	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GAGATGGGCCCGTACCCAGCC	0.602																																																	0								C	LEU/PRO	0,4406		0,0,2203	123	104	110		2501	3.8	0.8	17		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC3	NM_003786.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	834/1528	48750921	1,13005	2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2501C>T	17.37:g.48750921C>T	ENSP00000285238:p.Pro834Leu		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.P834L	ENST00000285238.8	37	c.2501	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560334	0.65538	0.0	1.16E-4	ENSG00000108846	ENST00000285238	T	0.77098	-1.07	4.83	3.76	0.43208	ABC transporter-like (1);	0.725129	0.13159	N	0.409226	T	0.72938	0.3523	L	0.55481	1.735	0.44395	D	0.997306	B	0.31209	0.313	B	0.21917	0.037	T	0.72434	-0.4295	10	0.87932	D	0	-7.9649	14.2532	0.66033	0.1896:0.8104:0.0:0.0	.	834	O15438	MRP3_HUMAN	L	834	ENSP00000285238:P834L	ENSP00000285238:P834L	P	+	2	0	ABCC3	46105920	1.000000	0.71417	0.778000	0.31720	0.952000	0.60782	6.010000	0.70753	1.117000	0.41842	0.561000	0.74099	CCG	ABCC3	-	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48750921	1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48750921	C	T	48750921	3	4	19	1	0	0	0	0	1	0	0	0	54	652	23	2	2659	2	ABCC3	17	48750921	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	9197690	48750921	32444289	48	2824										
CBX4	8535	genome.wustl.edu	37	chr17	77808441	77808441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gggctgcggatcgctaacccCggacacctcctcctccctcc	9	20	0	0			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:77808441C>T	ENST00000269397.4	-	5	1177	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	334	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGCTAACCCCGGACACCTCC	0.672											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24	24	24					17																	77808441		2203	4300	6503	SO:0001583	missense	8535			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1000G>A	17.37:g.77808441C>T	ENSP00000269397:p.Gly334Arg	1178	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.G334R	ENST00000269397.4	37	c.1000	CCDS32758.1	17	.	.	.	.	.	.	.	.	.	.	c	5.611	0.297396	0.10622	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.15	0.991	0.19813	.	27.643900	0.00357	U	0.000031	T	0.16854	0.0405	N	0.03608	-0.345	0.20403	N	0.999902	B	0.11235	0.004	B	0.04013	0.001	T	0.16660	-1.0395	9	0.17832	T	0.49	-8.4562	4.5456	0.12079	0.1703:0.6314:0.0:0.1983	.	334	O00257	CBX4_HUMAN	R	334	.	ENSP00000269397:G334R	G	-	1	0	CBX4	75423036	0.003000	0.15002	0.013000	0.15412	0.368000	0.29767	0.682000	0.25335	0.520000	0.28426	0.306000	0.20318	GGG	CBX4	-	NULL		0.672	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1	C	NM_003655		77808441	-1	no_errors	ENST00000269397	ensembl	human	known	70_37	missense	SNP	0.004	T	T	77808441	C	T	77808441	3	4	19	1	0	0	0	0	1	0	0	0	2725	652	23	2	686	2	CBX4	17	77808441	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08	29057520	77808441	3386769	49	2825										
PIAS2	9063	genome.wustl.edu	37	chr18	44407992	44407992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ggcaggagggtcttcctcttCgtcagaagagctttctattg	12	9	4	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr18:44407992C>T	ENST00000585916.1	-	11	1437	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	PIAS2_ENST00000324794.7_Missense_Mutation_p.E480K|PIAS2_ENST00000545673.1_Missense_Mutation_p.E190K	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	480					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TCTTCCTCTTCGTCAGAAGAG	0.408																																																	0													146	133	138					18																	44407992		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1438G>A	18.37:g.44407992C>T	ENSP00000465676:p.Glu480Lys		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.E480K	ENST00000585916.1	37	c.1438	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379837	0.82682	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.56444	0.46;1.0	5.49	5.49	0.81192	.	0.227975	0.42964	D	0.000621	T	0.53578	0.1805	L	0.59436	1.845	0.80722	D	1	P;B;P;P	0.48764	0.915;0.04;0.683;0.555	B;B;B;B	0.40506	0.331;0.016;0.057;0.057	T	0.61926	-0.6962	10	0.87932	D	0	-15.1406	19.7445	0.96247	0.0:1.0:0.0:0.0	.	190;480;480;480	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	K	480;480;190;480	ENSP00000443238:E190K;ENSP00000317163:E480K	ENSP00000262161:E480K	E	-	1	0	PIAS2	42661990	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.163000	0.77524	2.739000	0.93911	0.655000	0.94253	GAA	PIAS2	-	NULL		0.408	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	C	NM_004671		44407992	-1	no_errors	ENST00000585916	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44407992	C	T	44407992	3	4	19	1	0	0	0	0	1	0	0	0	11900	893	31	1	518	1	PIAS2	18	44407992	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		44407992	33669256	50	2826										
ASNA1	439	genome.wustl.edu	37	chr19	12858250	12858250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gtatgcattgctgagttcctGtccctgtatgagacagagag	12	8	0	3			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:12858250G>A	ENST00000591090.1	+	7	861	c.759G>A	c.(757-759)ctG>ctA	p.L253L	ASNA1_ENST00000357332.3_Silent_p.L253L					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CTGAGTTCCTGTCCCTGTATG	0.567																																																	0													83	74	77					19																	12858250		2203	4300	6503	SO:0001819	synonymous_variant	439			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.759G>A	19.37:g.12858250G>A				Silent	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3	p.L253	ENST00000591090.1	37	c.759	CCDS32920.1	19																																																																																			ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3		0.567	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1	G	NM_004317		12858250	1	no_errors	ENST00000357332	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12858250	G	A	12858250	2	1	19	1	0	0	0	0	0	0	0	1	1048	1364	48	4		4	ASNA1	19	12858250	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		12858250	46270733	51	2827										
ZNF43	7594	genome.wustl.edu	37	chr19	21990581	21990583	+	In_Frame_Del	DEL	TTA	TTA	-													0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	gctctttagtatgaattctcTtatgtgtattaaggtgtgag							TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	TTA	TTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:21990581_21990583delTTA	ENST00000354959.4	-	4	2425_2427	c.2256_2258delTAA	c.(2254-2259)cataag>cag	p.752_753HK>Q	ZNF43_ENST00000598381.1_In_Frame_Del_p.746_747HK>Q|ZNF43_ENST00000594012.1_In_Frame_Del_p.746_747HK>Q|ZNF43_ENST00000595461.1_In_Frame_Del_p.746_747HK>Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	752					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATTCTCTTATGTGTATTAA	0.335																																																	0																																										SO:0001651	inframe_deletion	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2256_2258delTAA	19.37:g.21990581_21990583delTTA	ENSP00000347045:p.His752_Lys753delinsGln		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.HK752in_frame_delQ	ENST00000354959.4	37	c.2258_2256	CCDS12413.2	19																																																																																			ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.335	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	TTA	NM_003423		21990583	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	in_frame_del	DEL	0.695:0.699:0.734	-	-	21990583	TTA	-	21990581	7	5	19	1	0	1	0	1	0	0	0	0	17933	1609	56	0	175	0	ZNF43	19	21990581	In_Frame_Del	DEL	TTA	TCGA-C5-A1ME-01A-11D-A13W-08	9132331	21990581	37138402	52	2828										
CD3EAP	10849	genome.wustl.edu	37	chr19	45912703	45912703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	tgaattcagagtctggggagGaggctcccacaggccgggac	16	10	2	2	rs372336084		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:45912703G>A	ENST00000309424.3	+	3	1965	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E495K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	493					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GTCTGGGGAGGAGGCTCCCAC	0.592																																																	0													23	25	24					19																	45912703		2190	4295	6485	SO:0001583	missense	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1477G>A	19.37:g.45912703G>A	ENSP00000310966:p.Glu493Lys		Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol1_su_RPA34	p.E495K	ENST00000309424.3	37	c.1483	CCDS12661.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343435	0.41498	.	.	ENSG00000117877	ENST00000309424	T	0.11712	2.75	4.5	-1.35	0.09114	.	0.642419	0.11882	N	0.520436	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B;B	0.25169	0.119;0.072	B;B	0.26416	0.069;0.031	T	0.39683	-0.9602	10	0.36615	T	0.2	.	5.0785	0.14644	0.2247:0.3105:0.4648:0.0	.	495;493	O15446-2;O15446	.;RPA34_HUMAN	K	493	ENSP00000310966:E493K	ENSP00000310966:E493K	E	+	1	0	CD3EAP	50604543	0.001000	0.12720	0.067000	0.19924	0.318000	0.28184	0.426000	0.21363	-0.012000	0.14223	0.561000	0.74099	GAG	CD3EAP	-	NULL		0.592	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1	G	NM_012099		45912703	1	no_errors	ENST00000589804	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45912703	G	A	45912703	3	1	19	1	0	0	0	0	1	0	0	0	3017	1175	41	1	1487	1	CD3EAP	19	45912703	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	23922122	45912703	13216280	53	2829										
NUCB1	4924	genome.wustl.edu	37	chr19	49424486	49424486	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	agctggctgcccgggaggcaGagctgaatgccaaggcccag	16	12	0	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:49424486G>C	ENST00000405315.4	+	11	1412	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Missense_Mutation_p.E360Q|NUCB1_ENST00000263273.5_Missense_Mutation_p.E360Q|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	360						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCGGGAGGCAGAGCTGAATGC	0.662																																																	0													25	26	26					19																	49424486		2203	4299	6502	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1078G>C	19.37:g.49424486G>C	ENSP00000385923:p.Glu360Gln		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E360Q	ENST00000405315.4	37	c.1078	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252990	0.80135	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.20069	2.1;2.1;2.1	4.11	3.04	0.35103	.	0.101723	0.64402	N	0.000003	T	0.33000	0.0848	L	0.55990	1.75	0.40694	D	0.982423	D;D	0.76494	0.999;0.999	P;P	0.58721	0.844;0.844	T	0.06127	-1.0844	10	0.34782	T	0.22	.	12.1382	0.53982	0.0:0.1754:0.8245:0.0	.	360;360	Q02818;Q53GX6	NUCB1_HUMAN;.	Q	360	ENSP00000385923:E360Q;ENSP00000385211:E360Q;ENSP00000263273:E360Q	ENSP00000263273:E360Q	E	+	1	0	NUCB1	54116298	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	5.231000	0.65327	1.016000	0.39470	0.491000	0.48974	GAG	NUCB1	-	NULL		0.662	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	G	NM_006184		49424486	1	no_errors	ENST00000263273	ensembl	human	known	70_37	missense	SNP	0.998	C	C	49424486	G	C	49424486	3	2	19	1	0	0	0	0	1	0	0	0	10742	943	33	1	1116	1	NUCB1	19	49424486	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	3511783	49424486	9704497	54	2830										
NCAM2	4685	genome.wustl.edu	37	chr21	22710836	22710836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	agagctgtggatggcttcacGttcactgaaggcgataaggt	14	7	2	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr21:22710836G>A	ENST00000400546.1	+	8	1275	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	NCAM2_ENST00000535285.1_Silent_p.T367T|NCAM2_ENST00000284894.7_Silent_p.T200T	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	342	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGGCTTCACGTTCACTGAAG	0.388																																																	0													58	55	56					21																	22710836		1920	4118	6038	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1026G>A	21.37:g.22710836G>A			A8MQ06|B7Z841|Q7Z7F2	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,prints_Neural_cell_adh	p.T342	ENST00000400546.1	37	c.1026	CCDS42910.1	21																																																																																			NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	G	NM_004540		22710836	1	no_errors	ENST00000400546	ensembl	human	known	70_37	silent	SNP	0.055	A	A	22710836	G	A	22710836	2	1	19	1	0	0	0	0	0	0	0	1	10227	1132	40	2		2	NCAM2	21	22710836	Silent	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		22710836	25419059	55	2831										
CSF2RB	1439	genome.wustl.edu	37	chr22	37334311	37334311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	ttgtcctgcagcaagtgggcGactattgcttcctccccggc	11	14	0	0	rs146598061		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr22:37334311G>A	ENST00000403662.3	+	14	2683	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	CSF2RB_ENST00000406230.1_Missense_Mutation_p.D827N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D768N|CSF2RB_ENST00000262825.5_Missense_Mutation_p.D827N			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	821					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCAAGTGGGCGACTATTGCTT	0.647																																																	0								G	ASN/ASP	0,4406		0,0,2203	84	97	93		2461	5.6	0.4	22	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSF2RB	NM_000395.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	821/898	37334311	1,13005	2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2461G>A	22.37:g.37334311G>A	ENSP00000384053:p.Asp821Asn		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.D827N	ENST00000403662.3	37	c.2479	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664645	0.88251	0.0	1.16E-4	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.96774	-3.59;-4.11;-4.11;-4.12	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000121	D	0.97436	0.9161	M	0.66939	2.045	0.35893	D	0.829842	D;D	0.76494	0.999;0.997	D;P	0.65684	0.937;0.866	D	0.99947	1.1482	10	0.62326	D	0.03	-21.879	15.1979	0.73108	0.0:0.0:1.0:0.0	.	827;821	P32927-2;P32927	.;IL3RB_HUMAN	N	821;821;827;827;768	ENSP00000384053:D821N;ENSP00000262825:D827N;ENSP00000385271:D827N;ENSP00000440003:D768N	ENSP00000262825:D827N	D	+	1	0	CSF2RB	35664257	0.999000	0.42202	0.370000	0.25965	0.850000	0.48378	4.700000	0.61803	2.649000	0.89929	0.650000	0.86243	GAC	CSF2RB	-	pirsf_IL3_rcpt_beta		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	G	NM_000395		37334311	1	no_errors	ENST00000262825	ensembl	human	known	70_37	missense	SNP	0.888	A	A	37334311	G	A	37334311	3	1	19	1	0	0	0	0	1	0	0	0	3940	1058	37	1	2511	1	CSF2RB	22	37334311	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08		37334311	13970255	56	2832										
AWAT1	158833	genome.wustl.edu	37	chrX	69460048	69460048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	aggagatggtggacaaatacCatgcactttatatggatgct	11	6	0	1			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chrX:69460048C>T	ENST00000374521.3	+	7	936	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	299					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGACAAATACCATGCACTTTA	0.478																																																	0													109	89	96					X																	69460048		2203	4300	6503	SO:0001583	missense	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.895C>T	X.37:g.69460048C>T	ENSP00000363645:p.His299Tyr		Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.H299Y	ENST00000374521.3	37	c.895	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878162	0.51801	.	.	ENSG00000204195	ENST00000374521	T	0.26518	1.73	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.65903	0.2736	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78856	-0.2039	10	0.87932	D	0	-19.1279	16.1359	0.81487	0.0:1.0:0.0:0.0	.	299	Q58HT5	AWAT1_HUMAN	Y	299	ENSP00000363645:H299Y	ENSP00000363645:H299Y	H	+	1	0	AWAT1	69376773	1.000000	0.71417	0.980000	0.43619	0.069000	0.16628	7.142000	0.77339	2.375000	0.81037	0.544000	0.68410	CAT	AWAT1	-	pfam_DAGAT		0.478	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69460048	1	no_errors	ENST00000374521	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69460048	C	T	69460048	3	4	19	1	0	0	0	0	1	0	0	0	1235	594	21	4	921	4	AWAT1	23	69460048	Missense_Mutation	SNP	C	TCGA-C5-A1ME-01A-11D-A13W-08		69460048	85810512	57	2833										
CUL4B	8450	genome.wustl.edu	37	chrX	119694468	119694468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	6	0.482489770495992	1.17351443123939	4.95483870967742	0.849400921658986	0.567099567099567	0.772585272678265	0	cagcagcagctgagggactgGgggaagaaaaacctgttgga	16	7	0	2			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chrX:119694468G>T	ENST00000404115.3	-	3	481	c.80C>A	c.(79-81)cCc>cAc	p.P27H	CUL4B_ENST00000336592.6_Missense_Mutation_p.P14H|CUL4B_ENST00000371322.5_Missense_Mutation_p.P9H	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	27	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGGGACTGGGGGAAGAAAA	0.512																																																	0													32	31	31					X																	119694468		2202	4298	6500	SO:0001583	missense	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.80C>A	X.37:g.119694468G>T	ENSP00000384109:p.Pro27His		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.P27H	ENST00000404115.3	37	c.80	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	g	15.54	2.862851	0.51482	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.75154	-0.82;-0.89;-0.91	5.3	5.3	0.74995	.	1.611910	0.03390	N	0.201793	T	0.81945	0.4930	L	0.43152	1.355	0.58432	D	0.999996	P;P	0.52842	0.926;0.956	P;P	0.54759	0.58;0.76	T	0.67550	-0.5642	9	.	.	.	-2.2092	17.2401	0.87010	0.0:0.0:1.0:0.0	.	27;9	Q13620;Q13620-1	CUL4B_HUMAN;.	H	9;14;27	ENSP00000360373:P9H;ENSP00000338919:P14H;ENSP00000384109:P27H	.	P	-	2	0	CUL4B	119578496	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.411000	0.80078	2.369000	0.80426	0.519000	0.50382	CCC	CUL4B	-	NULL		0.512	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	G	NM_003588		119694468	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119694468	G	T	119694468	3	4	19	1	0	0	0	0	1	0	0	0	4063	1232	43	4	2741	4	CUL4B	23	119694468	Missense_Mutation	SNP	G	TCGA-C5-A1ME-01A-11D-A13W-08	50234420	119694468	35576092	58	2834										
NBPF1	55672	genome.wustl.edu	37	chr1	16903865	16903865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agcttctcctccttgaactgTcgctcattcctcagcataga	6	14	3	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:16903865T>C	ENST00000430580.2	-	18	2738	c.1851A>G	c.(1849-1851)cgA>cgG	p.R617R	NBPF1_ENST00000287968.8_5'Flank|NBPF1_ENST00000432949.1_Silent_p.R75R|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	617						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTTGAACTGTCGCTCATTCC	0.537																																																	0													131	142	138					1																	16903865		1067	2330	3397	SO:0001819	synonymous_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1851A>G	1.37:g.16903865T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.537	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	T	NM_017940		16903865	-1	no_errors	ENST00000392963	ensembl	human	known	70_37	rna	SNP	0.002	C	C	16903865	T	C	16903865	2	2	20	1	0	0	0	0	0	0	0	1	10215	1654	58	5		5	NBPF1	1	16903865	Silent	SNP	T	TCGA-C5-A1MF-01A-11D-A13W-08		16903865	232346756	1	2835										
NBPF3	84224	genome.wustl.edu	37	chr1	21807446	21807446	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tgaaaaaggaccaagaagagGaagaagaccaaggcccacca	11	9	0	5			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:21807446G>T	ENST00000318249.5	+	12	1755	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	NBPF3_ENST00000454000.2_Nonsense_Mutation_p.E399*|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.E457*|NBPF3_ENST00000318220.6_Nonsense_Mutation_p.E413*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	469	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Glu.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAAGAAGAGGAAGAAGACCA	0.468																																																	0													80	118	105					1																	21807446		2184	4299	6483	SO:0001587	stop_gained	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1405G>T	1.37:g.21807446G>T	ENSP00000316782:p.Glu469*		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.E469*	ENST00000318249.5	37	c.1405	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.689797	0.88735	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	.	.	.	0.573	0.573	0.17363	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	.	.	.	.	.	.	.	X	399;413;469;457;413	.	ENSP00000316739:E413X	E	+	1	0	NBPF3	21680033	0.002000	0.14202	0.016000	0.15963	0.155000	0.21991	-0.451000	0.06795	0.616000	0.30141	0.121000	0.15741	GAA	NBPF3	-	pfam_NBPF_dom		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		G	NM_032264		21807446	1	no_errors	ENST00000318249	ensembl	human	known	70_37	nonsense	SNP	0.019	T	T	21807446	G	T	21807446	4	4	20	1	0	0	0	0	0	1	0	0	10221	1175	41	3	1447	3	NBPF3	1	21807446	Nonsense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	4903581	21807446	227443175	2	2836										
CDC20	991	genome.wustl.edu	37	chr1	43827899	43827899	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tctggtctccccattacaagGagctcatctcaggccatggc	9	14	4	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:43827899G>C	ENST00000372462.1	+	9	1440	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	CDC20_ENST00000310955.6_Missense_Mutation_p.E413Q|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20	413					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATTACAAGGAGCTCATCTC	0.507																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													115	101	106					1																	43827899		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1237G>C	1.37:g.43827899G>C	ENSP00000361540:p.Glu413Gln		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E413Q	ENST00000372462.1	37	c.1237	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.364979	0.95877	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.28454	1.61;1.61	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75016	-0.3466	10	0.87932	D	0	-20.6477	20.1386	0.98045	0.0:0.0:1.0:0.0	.	413	Q12834	CDC20_HUMAN	Q	389;413;413	ENSP00000308450:E413Q;ENSP00000361540:E413Q	ENSP00000308450:E413Q	E	+	1	0	CDC20	43600486	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.522000	0.98032	2.767000	0.95098	0.561000	0.74099	GAG	CDC20	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	G	NM_001255		43827899	1	no_errors	ENST00000310955	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43827899	G	C	43827899	3	2	20	1	0	0	0	0	1	0	0	0	3064	1175	41	1	1271	1	CDC20	1	43827899	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	22020453	43827899	205422722	3	2837			1	15		2	2	12	N	G_A	3.126896e-05
CDC20	991	genome.wustl.edu	37	chr1	43827910	43827910	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cattacaaggagctcatctcAggccatggctttgcacagaa	9	11	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:43827910A>C	ENST00000372462.1	+	9	1451	c.1248A>C	c.(1246-1248)tcA>tcC	p.S416S	CDC20_ENST00000310955.6_Silent_p.S416S|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20	416					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTCATCTCAGGCCATGGCT	0.507																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													114	100	105					1																	43827910		2203	4300	6503	SO:0001819	synonymous_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1248A>C	1.37:g.43827910A>C			B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S416	ENST00000372462.1	37	c.1248	CCDS484.1	1																																																																																			CDC20	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	A	NM_001255		43827910	1	no_errors	ENST00000310955	ensembl	human	known	70_37	silent	SNP	0.979	C	C	43827910	A	C	43827910	2	2	20	1	0	0	0	0	0	0	0	1	3064	175	7	5		5	CDC20	1	43827910	Silent	SNP	A	TCGA-C5-A1MF-01A-11D-A13W-08	11	43827910	205422711	4	2838			1	15		2	2	12	N	G_A	3.126896e-05
LRRC41	10489	genome.wustl.edu	37	chr1	46746151	46746151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acagctgctgcagagaacccGaggccttcagaacggagcac	12	13	1	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:46746151G>A	ENST00000343304.6	-	6	2123	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	613					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGAGAACCCGAGGCCTTCAG	0.567																																																	0													88	98	95					1																	46746151		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1838C>T	1.37:g.46746151G>A	ENSP00000343298:p.Ser613Leu		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S613L	ENST00000343304.6	37	c.1838	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080614	0.94050	.	.	ENSG00000132128	ENST00000343304	T	0.47869	0.83	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000006	T	0.58793	0.2147	N	0.24115	0.695	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.60515	-0.7248	10	0.56958	D	0.05	-20.1407	20.1472	0.98082	0.0:0.0:1.0:0.0	.	613;613	Q15345-3;Q15345	.;LRC41_HUMAN	L	613	ENSP00000343298:S613L	ENSP00000343298:S613L	S	-	2	0	LRRC41	46518738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.473000	0.73572	2.766000	0.95052	0.644000	0.83932	TCG	LRRC41	-	NULL		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	G	NM_006369		46746151	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46746151	G	A	46746151	3	1	20	1	0	0	0	0	1	0	0	0	9022	1059	37	1	620	1	LRRC41	1	46746151	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	2918241	46746151	202504470	5	2839										
UFC1	51506	genome.wustl.edu	37	chr1	161128205	161128205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ttttccttgtattgcagctgGgtccatggctggcagtggaa	13	8	0	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:161128205G>A	ENST00000368003.5	+	6	673	c.427G>A	c.(427-429)Ggt>Agt	p.G143S	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000289865.8_5'Flank|USP21_ENST00000368001.1_5'Flank|USP21_ENST00000368002.3_5'Flank	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	143					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATTGCAGCTGGGTCCATGGCT	0.478																																																	0													108	110	109					1																	161128205		2203	4300	6503	SO:0001583	missense	51506			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.427G>A	1.37:g.161128205G>A	ENSP00000356982:p.Gly143Ser		A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1	p.G143S	ENST00000368003.5	37	c.427	CCDS1220.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384968	0.82792	.	.	ENSG00000143222	ENST00000368003	T	0.46063	0.88	4.42	4.42	0.53409	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.86805	2.84	0.80722	D	1	P	0.48162	0.906	D	0.63957	0.92	T	0.69401	-0.5155	10	0.72032	D	0.01	-4.3483	15.9662	0.79974	0.0:0.0:1.0:0.0	.	143	Q9Y3C8	UFC1_HUMAN	S	143	ENSP00000356982:G143S	ENSP00000356982:G143S	G	+	1	0	UFC1	159394829	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.874000	0.87199	2.281000	0.76405	0.561000	0.74099	GGT	UFC1	-	pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1		0.478	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFC1	HGNC	protein_coding	OTTHUMT00000080810.1	G	NM_016406		161128205	1	no_errors	ENST00000368003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161128205	G	A	161128205	3	1	20	1	0	0	0	0	1	0	0	0	16965	1232	43	4	449	4	UFC1	1	161128205	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	114382054	161128205	88122416	6	2840										
LAMB3	3914	genome.wustl.edu	37	chr1	209789963	209789963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	atacttttgttttattctctCaaatccctgaaaaaggtaga	5	7	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:209789963C>G	ENST00000356082.4	-	22	3369	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	LAMB3_ENST00000367030.3_Missense_Mutation_p.E1079Q|LAMB3_ENST00000391911.1_Missense_Mutation_p.E1079Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1079	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TTTATTCTCTCAAATCCCTGA	0.468																																																	0													85	82	83					1																	209789963		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3235G>C	1.37:g.209789963C>G	ENSP00000348384:p.Glu1079Gln		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1079Q	ENST00000356082.4	37	c.3235	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695313	0.30052	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.65178	1.94;1.94;1.94;-0.14	4.63	3.7	0.42460	.	0.471384	0.19812	U	0.105506	T	0.42200	0.1192	N	0.20986	0.625	0.20703	N	0.999869	B	0.26876	0.162	B	0.20577	0.03	T	0.18178	-1.0345	10	0.15952	T	0.53	.	9.1925	0.37209	0.0:0.8952:0.0:0.1048	.	1079	Q13751	LAMB3_HUMAN	Q	1079;1079;1079;148	ENSP00000375778:E1079Q;ENSP00000348384:E1079Q;ENSP00000355997:E1079Q;ENSP00000398683:E148Q	ENSP00000348384:E1079Q	E	-	1	0	LAMB3	207856586	0.576000	0.26700	0.988000	0.46212	0.856000	0.48823	1.391000	0.34475	0.914000	0.36822	0.449000	0.29647	GAG	LAMB3	-	NULL		0.468	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209789963	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	1.000	G	G	209789963	C	G	209789963	3	3	20	1	0	0	0	0	1	0	0	0	8632	835	29	1	291	1	LAMB3	1	209789963	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	48661758	209789963	39460658	7	2841										
LAMB3	3914	genome.wustl.edu	37	chr1	209791342	209791342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agtgccactgtcccctgccgCaggttcccaaccacatcttc	7	18	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:209791342C>T	ENST00000356082.4	-	20	3095	c.2961G>A	c.(2959-2961)ctG>ctA	p.L987L	LAMB3_ENST00000367030.3_Silent_p.L987L|LAMB3_ENST00000391911.1_Silent_p.L987L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	987	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCCCTGCCGCAGGTTCCCAA	0.602																																																	0													96	83	88					1																	209791342		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2961G>A	1.37:g.209791342C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.L987	ENST00000356082.4	37	c.2961	CCDS1487.1	1																																																																																			LAMB3	-	NULL		0.602	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209791342	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	silent	SNP	0.985	T	T	209791342	C	T	209791342	2	4	20	1	0	0	0	0	0	0	0	1	8632	697	25	4		4	LAMB3	1	209791342	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	1379	209791342	39459279	8	2842										
LIN9	286826	genome.wustl.edu	37	chr1	226426770	226426770	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tgcatatctccgctgaaattCaatgctgatgggcatggaat	10	8	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:226426770C>A	ENST00000328205.5	-	12	1740	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	LIN9_ENST00000481685.1_Nonsense_Mutation_p.E364*|LIN9_ENST00000366801.1_Nonsense_Mutation_p.E348*	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	383					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGCTGAAATTCAATGCTGATG	0.353																																					Ovarian(197;1696 2974 11248 14117)												0													101	97	98					1																	226426770		2203	4300	6503	SO:0001587	stop_gained	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1195G>T	1.37:g.226426770C>A	ENSP00000329102:p.Glu399*		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Nonsense_Mutation	SNP	pfam_DIRP	p.E399*	ENST00000328205.5	37	c.1195	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.799155	0.96960	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.66	5.66	0.87406	.	0.097801	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	359;399;454;348;364	.	ENSP00000329102:E399X	E	-	1	0	LIN9	224493393	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.481000	0.81124	2.669000	0.90835	0.591000	0.81541	GAA	LIN9	-	NULL		0.353	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226426770	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	226426770	C	A	226426770	4	1	20	1	0	0	0	0	0	1	0	0	8834	835	29	3	497	3	LIN9	1	226426770	Nonsense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	16635428	226426770	22823851	9	2843										
PRSS38	339501	genome.wustl.edu	37	chr1	228003831	228003831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gaggggaaaatcctgggcggCgtccctgcgcccgagaggaa	17	11	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:228003831C>T	ENST00000366757.3	+	2	213	c.189C>T	c.(187-189)ggC>ggT	p.G63G		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTGGGCGGCGTCCCTGCGC	0.672																																																	0													61	69	66					1																	228003831		2203	4299	6502	SO:0001819	synonymous_variant	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.189C>T	1.37:g.228003831C>T			Q7RTY6	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.G63	ENST00000366757.3	37	c.189	CCDS1563.1	1																																																																																			PRSS38	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.672	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	C	NM_183062		228003831	1	no_errors	ENST00000366757	ensembl	human	known	70_37	silent	SNP	0.001	T	T	228003831	C	T	228003831	2	4	20	1	0	0	0	0	0	0	0	1	12654	755	27	2		2	PRSS38	1	228003831	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	1577061	228003831	21246790	10	2844										
GALNT2	2590	genome.wustl.edu	37	chr1	230398692	230398692	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cagagcagattggagcttagGaagaaactcagctgcaagcc	12	9	1	3			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:230398692G>A	ENST00000366672.4	+	13	1326	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	GALNT2_ENST00000543760.1_Silent_p.R380R|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	418					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGGAGCTTAGGAAGAAACTCA	0.393																																																	0													93	98	96					1																	230398692		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1254G>A	1.37:g.230398692G>A			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R418	ENST00000366672.4	37	c.1254	CCDS1582.1	1																																																																																			GALNT2	-	NULL		0.393	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	G	NM_004481		230398692	1	no_errors	ENST00000366672	ensembl	human	known	70_37	silent	SNP	0.998	A	A	230398692	G	A	230398692	2	1	20	1	0	0	0	0	0	0	0	1	6232	1165	41	1		1	GALNT2	1	230398692	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	2394861	230398692	18851929	11	2845										
PCNXL2	80003	genome.wustl.edu	37	chr1	233372617	233372617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ggtttccgactgggtcctgcGagccaccatcagtaacagct	11	13	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:233372617G>A	ENST00000258229.9	-	9	2566	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PCNXL2_ENST00000430153.1_Missense_Mutation_p.R77C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	778						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGGTCCTGCGAGCCACCATC	0.527																																																	0													130	129	130					1																	233372617		1915	4142	6057	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2332C>T	1.37:g.233372617G>A	ENSP00000258229:p.Arg778Cys		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.R778C	ENST00000258229.9	37	c.2332	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478702	0.84747	.	.	ENSG00000135749	ENST00000258229;ENST00000430153	T;T	0.66995	-0.24;-0.24	5.45	5.45	0.79879	.	.	.	.	.	T	0.71978	0.3404	L	0.27053	0.805	0.45227	D	0.998235	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.74097	-0.3775	9	0.72032	D	0.01	.	14.1733	0.65525	0.0:0.0:0.8512:0.1488	.	77;778	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	C	778;77	ENSP00000258229:R778C;ENSP00000394703:R77C	ENSP00000258229:R778C	R	-	1	0	PCNXL2	231439240	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	3.176000	0.50863	2.836000	0.97738	0.655000	0.94253	CGC	PCNXL2	-	NULL		0.527	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233372617	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	1.000	A	A	233372617	G	A	233372617	3	1	20	1	0	0	0	0	1	0	0	0	11616	1058	37	1	4185	1	PCNXL2	1	233372617	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	2973925	233372617	15878004	12	2846										
RYR2	6262	genome.wustl.edu	37	chr1	237789071	237789071	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	atctgaagaagaagcaagcaGaaaaaccagttgagagtgac	11	6	1	6			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr1:237789071G>C	ENST00000366574.2	+	40	6450	c.6133G>C	c.(6133-6135)Gaa>Caa	p.E2045Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E2043Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E2029Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2045	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGCAAGCAGAAAAACCAGT	0.443																																																	0													95	91	92					1																	237789071		1911	4122	6033	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6133G>C	1.37:g.237789071G>C	ENSP00000355533:p.Glu2045Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2043Q	ENST00000366574.2	37	c.6127	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837749	0.50951	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72725	-0.68;-0.68;-0.68	5.47	4.5	0.54988	.	0.283075	0.28067	U	0.016739	T	0.69024	0.3065	M	0.72479	2.2	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.67542	-0.5644	10	0.44086	T	0.13	.	14.0797	0.64912	0.0:0.1503:0.8497:0.0	.	2045	Q92736	RYR2_HUMAN	Q	2045;2043;2029	ENSP00000355533:E2045Q;ENSP00000353174:E2043Q;ENSP00000443798:E2029Q	ENSP00000353174:E2043Q	E	+	1	0	RYR2	235855694	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	5.187000	0.65087	2.575000	0.86900	0.561000	0.74099	GAA	RYR2	-	NULL		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237789071	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.997	C	C	237789071	G	C	237789071	3	2	20	1	0	0	0	0	1	0	0	0	13799	943	33	1	6291	1	RYR2	1	237789071	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	4416454	237789071	11461550	13	2847										
HK2	3099	genome.wustl.edu	37	chr2	75116397	75116397	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gcctggccctgctgcaagtcCgagccatcctgcaacactta	9	16	0	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:75116397C>T	ENST00000290573.2	+	17	3001	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	HK2_ENST00000409174.1_Nonsense_Mutation_p.R773*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	801	Catalytic.|Hexokinase type-2 2.		R -> Q (in dbSNP:rs28363057). {ECO:0000269|Ref.4}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCTGCAAGTCCGAGCCATCCT	0.607																																																	0													75	50	59					2																	75116397		2203	4300	6503	SO:0001587	stop_gained	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2401C>T	2.37:g.75116397C>T	ENSP00000290573:p.Arg801*		D6W5J2|Q8WU87|Q9UN82	Nonsense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R801*	ENST00000290573.2	37	c.2401	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.281159	0.99375	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	4.56	4.56	0.56223	.	0.052711	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5147	15.2043	0.73165	0.0:1.0:0.0:0.0	.	.	.	.	X	801;801;773	.	ENSP00000290573:R801X	R	+	1	2	HK2	74969905	0.966000	0.33281	0.938000	0.37757	0.966000	0.64601	2.335000	0.43929	2.540000	0.85666	0.561000	0.74099	CGA	HK2	-	pfam_Hexokinase_C		0.607	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75116397	1	no_errors	ENST00000290573	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	75116397	C	T	75116397	4	4	20	1	0	0	0	0	0	1	0	0	7211	644	23	2	2467	2	HK2	2	75116397	Nonsense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		75116397	168082976	14	2848										
RPIA	22934	genome.wustl.edu	37	chr2	88991297	88991297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agggccgggggcgcggcctcCggcggaggagggaacagctg	22	11	0	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:88991297C>T	ENST00000283646.4	+	1	136	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	27					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				gcgcggcctccggcggAGGAG	0.761																																																	0													6	9	8					2																	88991297		1653	3749	5402	SO:0001819	synonymous_variant	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.81C>T	2.37:g.88991297C>T			Q541P9|Q96BJ6	Silent	SNP	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	p.S27	ENST00000283646.4	37	c.81	CCDS2004.2	2																																																																																			RPIA	-	NULL		0.761	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPIA	HGNC	protein_coding	OTTHUMT00000252683.2	C			88991297	1	no_errors	ENST00000283646	ensembl	human	known	70_37	silent	SNP	0.001	T	T	88991297	C	T	88991297	2	4	20	1	0	0	0	0	0	0	0	1	13583	639	23	2		2	RPIA	2	88991297	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	13874900	88991297	154208076	15	2849										
TTN	7273	genome.wustl.edu	37	chr2	179412236	179412236	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	atattccatgtattttgtgaGatgagtgactttaatttgag	9	3	0	4			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:179412236G>T	ENST00000591111.1	-	289	89418	c.89194C>A	c.(89194-89196)Ctc>Atc	p.L29732I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31373I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28805I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22500I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22433I|TTN_ENST00000460472.2_Missense_Mutation_p.L22308I			Q8WZ42	TITIN_HUMAN	titin	29732	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTTGTGAGATGAGTGACT	0.388																																																	0													64	61	62					2																	179412236		1881	4117	5998	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89194C>A	2.37:g.179412236G>T	ENSP00000465570:p.Leu29732Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L28805I	ENST00000591111.1	37	c.86413		2	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337774	0.60963	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.03	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90508	0.7026	H	0.95504	3.68	0.58432	D	0.999995	B;B;B;B	0.23442	0.085;0.085;0.085;0.085	B;B;B;B	0.26693	0.072;0.072;0.072;0.072	D	0.89652	0.3870	9	0.87932	D	0	.	16.878	0.86057	0.0:0.0:0.8708:0.1292	.	22308;22433;22500;29732	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	28805;22308;22500;22433;22305	ENSP00000343764:L28805I;ENSP00000434586:L22308I;ENSP00000340554:L22500I;ENSP00000352154:L22433I	ENSP00000340554:L22500I	L	-	1	0	TTN	179120482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	1.548000	0.49413	0.655000	0.94253	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179412236	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179412236	G	T	179412236	3	4	20	1	0	0	0	0	1	0	0	0	16766	942	33	3	13958	3	TTN	2	179412236	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	90420939	179412236	63787137	16	2850										
TTN	7273	genome.wustl.edu	37	chr2	179458767	179458767	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cagtatttgccggaatctgaAcgtttggccttgatcttctc	9	10	3	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:179458767A>G	ENST00000591111.1	-	247	53654	c.53430T>C	c.(53428-53430)cgT>cgC	p.R17810R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.R19451R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.R16883R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.R10578R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.R10511R|TTN_ENST00000460472.2_Silent_p.R10386R			Q8WZ42	TITIN_HUMAN	titin	17810	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGAATCTGAACGTTTGGCCT	0.413																																																	0													183	179	180					2																	179458767		2021	4192	6213	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53430T>C	2.37:g.179458767A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R16883	ENST00000591111.1	37	c.50649		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179458767	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.452	G	G	179458767	A	G	179458767	2	3	20	1	0	0	0	0	0	0	0	1	16766	30	2	5		5	TTN	2	179458767	Silent	SNP	A	TCGA-C5-A1MF-01A-11D-A13W-08	46531	179458767	63740606	17	2851										
AQP12A	375318	genome.wustl.edu	37	chr2	241631397	241631397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ccctctgtgaggcggccaggCgggcctccaaggccctgctc	14	17	1	1	rs375647576		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr2:241631397C>T	ENST00000337801.4	+	1	136	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	AQP12A_ENST00000429564.1_Missense_Mutation_p.R23W|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	23						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGGCCAGGCGGGCCTCCAA	0.687																																																	0									TRP/ARG	0,4342		0,0,2171	49	57	55		67	-0.7	0.8	2		55	1,8573		0,1,4286	no	missense	AQP12A	NM_198998.1	101	0,1,6457	TT,TC,CC		0.0117,0.0,0.0077	benign	23/296	241631397	1,12915	2171	4287	6458	SO:0001583	missense	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.67C>T	2.37:g.241631397C>T	ENSP00000337144:p.Arg23Trp			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.R23W	ENST00000337801.4	37	c.67		2	.	.	.	.	.	.	.	.	.	.	.	5.630	0.300910	0.10678	0.0	1.17E-4	ENSG00000184945	ENST00000337801;ENST00000429564	T;T	0.04454	3.62;3.62	2.43	-0.699	0.11277	.	0.556195	0.18450	N	0.140848	T	0.04003	0.0112	L	0.50333	1.59	0.31247	N	0.694494	B	0.26809	0.16	B	0.16722	0.016	T	0.23868	-1.0176	10	0.34782	T	0.22	0.0022	3.9651	0.09428	0.43:0.3979:0.0:0.1721	.	23	Q8IXF9	AQ12A_HUMAN	W	23	ENSP00000337144:R23W;ENSP00000405899:R23W	ENSP00000337144:R23W	R	+	1	2	AQP12A	241280070	0.904000	0.30761	0.830000	0.32933	0.320000	0.28249	0.001000	0.13038	-0.324000	0.08589	0.186000	0.17326	CGG	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12		0.687	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	C	NM_198998		241631397	1	no_errors	ENST00000429564	ensembl	human	known	70_37	missense	SNP	0.730	T	T	241631397	C	T	241631397	3	4	20	1	0	0	0	0	1	0	0	0	824	759	27	2	69	2	AQP12A	2	241631397	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	62172630	241631397	1567976	18	2852										
LHFPL4	375323	genome.wustl.edu	37	chr3	9594298	9594298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aagatggcccacagcacgccGatggcccgcgagttccgcat	12	15	0	1	rs201993485		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:9594298G>A	ENST00000287585.6	-	2	351	c.66C>T	c.(64-66)atC>atT	p.I22I	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	36						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACAGCACGCCGATGGCCCGCG	0.677																																																	0													63	71	69					3																	9594298		2203	4300	6503	SO:0001819	synonymous_variant	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.66C>T	3.37:g.9594298G>A			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.I22	ENST00000287585.6	37	c.66	CCDS33691.1	3																																																																																			LHFPL4	-	pfam_Lipome_HGMIC_fus_partner-like		0.677	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	HGNC	protein_coding	OTTHUMT00000338298.1	G	NM_198560		9594298	-1	no_errors	ENST00000287585	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9594298	G	A	9594298	2	1	20	1	0	0	0	0	0	0	0	1	8787	1048	37	1		1	LHFPL4	3	9594298	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		9594298	188428132	19	2853										
SCN5A	6331	genome.wustl.edu	37	chr3	38592173	38592173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acacctcttcgtgcttgcgcCggagtgtggtggtgatgggc	16	10	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:38592173C>T	ENST00000333535.4	-	28	5839	c.5690G>A	c.(5689-5691)cGg>cAg	p.R1897Q	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1843Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1897Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1896Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1864Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1843Q|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1843Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1879Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1879Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1896Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1897	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCTTGCGCCGGAGTGTGGT	0.582																																																	0													170	186	181					3																	38592173		2123	4212	6335	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5690G>A	3.37:g.38592173C>T	ENSP00000328968:p.Arg1897Gln		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1897Q	ENST00000333535.4	37	c.5690	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614744	0.87359	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96041	-3.8;-3.82;-3.82;-3.87;-3.82;-3.8;-3.82;-3.89;-3.87;-3.87	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	D	0.96731	0.8933	M	0.68593	2.085	0.47659	D	0.999488	P;D;P;D;P;P	0.76494	0.896;0.999;0.949;0.982;0.945;0.784	B;D;B;P;P;B	0.72625	0.266;0.978;0.432;0.728;0.636;0.227	D	0.96127	0.9089	10	0.51188	T	0.08	.	11.6214	0.51119	0.0:0.9186:0.0:0.0814	.	1843;1864;1879;1897;1896;1897	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	1879;1896;1897;1843;1896;1879;1897;1864;1843;1843	ENSP00000398962:R1879Q;ENSP00000398266:R1896Q;ENSP00000410257:R1897Q;ENSP00000388797:R1843Q;ENSP00000397915:R1896Q;ENSP00000416634:R1879Q;ENSP00000328968:R1897Q;ENSP00000399524:R1864Q;ENSP00000403355:R1843Q;ENSP00000413996:R1843Q	ENSP00000328968:R1897Q	R	-	2	0	SCN5A	38567177	0.676000	0.27567	0.998000	0.56505	0.997000	0.91878	4.826000	0.62715	2.525000	0.85131	0.591000	0.81541	CGG	SCN5A	-	NULL		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38592173	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38592173	C	T	38592173	3	4	20	1	0	0	0	0	1	0	0	0	13952	652	23	2	364	2	SCN5A	3	38592173	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	28997875	38592173	159430257	20	2854										
CCR9	10803	genome.wustl.edu	37	chr3	45942736	45942736	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	attgccattgcccaggccatGagagcacatacttggaggga	12	10	0	1	rs568929897		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:45942736G>A	ENST00000357632.2	+	3	636	c.456G>A	c.(454-456)atG>atA	p.M152I	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.M140I|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.M140I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	152					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCCAGGCCATGAGAGCACATA	0.473																																																	0													124	116	119					3																	45942736		2203	4300	6503	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.456G>A	3.37:g.45942736G>A	ENSP00000350256:p.Met152Ile		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4	p.M152I	ENST00000357632.2	37	c.456	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	7.842	0.722148	0.15372	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.36699	1.24;1.24;1.24	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.166949	0.52532	D	0.000079	T	0.21022	0.0506	N	0.13043	0.29	0.31331	N	0.684872	B	0.11235	0.004	B	0.16722	0.016	T	0.09574	-1.0668	10	0.35671	T	0.21	.	8.6819	0.34214	0.0784:0.0:0.7717:0.1499	.	152	P51686	CCR9_HUMAN	I	152;140;140	ENSP00000350256:M152I;ENSP00000379292:M140I;ENSP00000348260:M140I	ENSP00000348260:M140I	M	+	3	0	CCR9	45917740	0.981000	0.34729	0.717000	0.30585	0.409000	0.31022	1.439000	0.35013	2.289000	0.77006	0.563000	0.77884	ATG	CCR9	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	G			45942736	1	no_errors	ENST00000357632	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45942736	G	A	45942736	3	1	20	1	0	0	0	0	1	0	0	0	2953	1290	45	1	462	1	CCR9	3	45942736	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	7350563	45942736	152079694	21	2855										
SMARCC1	6599	genome.wustl.edu	37	chr3	47703996	47703996	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gggtcctcaatgggaagtctCaaaaagtggaggatgcattc	13	7	2	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:47703996C>G	ENST00000254480.5	-	20	2105	c.1986G>C	c.(1984-1986)ttG>ttC	p.L662F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	662	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGGGAAGTCTCAAAAAGTGGA	0.473																																																	0													103	92	96					3																	47703996		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1986G>C	3.37:g.47703996C>G	ENSP00000254480:p.Leu662Phe		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.L662F	ENST00000254480.5	37	c.1986	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289566	0.80914	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.04	5.04	0.67666	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000001	T	0.62258	0.2413	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.65768	-0.6088	10	0.87932	D	0	-10.281	13.4775	0.61316	0.0:0.8431:0.1569:0.0	.	662	Q92922	SMRC1_HUMAN	F	662	ENSP00000254480:L662F	ENSP00000254480:L662F	L	-	3	2	SMARCC1	47679000	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.824000	0.55723	2.490000	0.84030	0.591000	0.81541	TTG	SMARCC1	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.473	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	C			47703996	-1	no_errors	ENST00000254480	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47703996	C	G	47703996	3	3	20	1	0	0	0	0	1	0	0	0	14805	825	29	1	1367	1	SMARCC1	3	47703996	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	1761260	47703996	150318434	22	2856										
PPM1M	132160	genome.wustl.edu	37	chr3	52281193	52281193	+	Frame_Shift_Del	DEL	C	C	-													0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tttgtggaggaaaagggcatCagggcagaagacttggtgat							TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:52281193delC	ENST00000296487.4	+	3	467	c.63delC	c.(61-63)atcfs	p.I21fs	PPM1M_ENST00000409502.3_Intron|PPM1M_ENST00000323588.4_Frame_Shift_Del_p.I21fs|PPM1M_ENST00000457351.2_Frame_Shift_Del_p.I182fs			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	21	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		AAAAGGGCATCAGGGCAGAAG	0.587																																					NSCLC(151;810 2688 34365 49863)												0													155	114	128					3																	52281193		2203	4300	6503	SO:0001589	frameshift_variant	132160			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26506	protein-coding gene	gene with protein product	"protein phosphatase 2C eta"	608979	"protein phosphatase 1M (PP2C domain containing)"			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.63delC	3.37:g.52281193delC	ENSP00000296487:p.Ile21fs		Q8N8J9|Q96DB8	Frame_Shift_Del	DEL	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R183fs	ENST00000296487.4	37	c.546		3																																																																																			PPM1M	-	superfamily_PP2C-like,smart_PP2C-like		0.587	PPM1M-001	KNOWN	basic	protein_coding	PPM1M	HGNC	protein_coding	OTTHUMT00000329230.2	C	NM_144641		52281193	1	no_errors	ENST00000457351	ensembl	human	known	70_37	frame_shift_del	DEL	0.812	-	-	52281193	C	-	52281193	7	5	20	1	0	1	0	1	0	0	0	0	12372	816	29	0	65	0	PPM1M	3	52281193	Frame_Shift_Del	DEL	C	TCGA-C5-A1MF-01A-11D-A13W-08	4577197	52281193	145741237	23	2857										
TRPC1	7220	genome.wustl.edu	37	chr3	142443466	142443466	+	Missense_Mutation	SNP	C	C	T													0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ctcctcctccctgccttcctCtccatcctcttcctcgccga							TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:142443466C>T	ENST00000476941.1	+	1	551	c.65C>T	c.(64-66)tCt>tTt	p.S22F	TRPC1_ENST00000273482.6_Missense_Mutation_p.S22F	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	22					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ctgccttcctctccatcctct	0.642																																																	0													81	73	76					3																	142443466		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.65C>T	3.37:g.142443466C>T	ENSP00000419313:p.Ser22Phe		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S22F	ENST00000476941.1	37	c.65	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970368	0.74246	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79940	-1.01;-1.32	3.43	3.43	0.39272	.	0.630732	0.16470	N	0.213026	T	0.58192	0.2105	N	0.08118	0	0.29622	N	0.846083	P;P	0.43352	0.704;0.804	B;B	0.32342	0.068;0.144	T	0.62918	-0.6752	10	0.72032	D	0.01	-0.977	10.645	0.45615	0.0:1.0:0.0:0.0	.	22;22	P48995;P48995-2	TRPC1_HUMAN;.	F	22	ENSP00000419313:S22F;ENSP00000273482:S22F	ENSP00000273482:S22F	S	+	2	0	TRPC1	143926156	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.215000	0.71742	0.536000	0.68110	TCT	TRPC1	-	NULL		0.642	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	C	NM_003304		142443466	1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142443466	C	T	142443466	3	4	20	1	0	0	0	0	1	0	0	0	16609	913	32	1	67	1	TRPC1	3	142443466	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	90162273	142443466	55578964	24	2858	15	2								
TRPC1	7220	genome.wustl.edu	37	chr3	142443468	142443468	+	Missense_Mutation	SNP	C	C	T													0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cctcctccctgccttcctctCcatcctcttcctcgccgaac							TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:142443468C>T	ENST00000476941.1	+	1	553	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P23S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	23					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						gccttcctctccatcctcttc	0.637																																																	0													83	75	78					3																	142443468		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.67C>T	3.37:g.142443468C>T	ENSP00000419313:p.Pro23Ser		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P23S	ENST00000476941.1	37	c.67	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036045	0.19590	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79247	-0.86;-1.25	3.43	1.63	0.23807	.	0.369057	0.30134	N	0.010335	T	0.53061	0.1773	N	0.08118	0	0.26787	N	0.969486	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.42085	-0.9472	10	0.40728	T	0.16	-0.477	5.5735	0.17210	0.0:0.7446:0.0:0.2554	.	23;23	P48995;P48995-2	TRPC1_HUMAN;.	S	23	ENSP00000419313:P23S;ENSP00000273482:P23S	ENSP00000273482:P23S	P	+	1	0	TRPC1	143926158	.	.	1.000000	0.80357	0.914000	0.54420	.	.	0.458000	0.26988	-0.335000	0.08231	CCA	TRPC1	-	NULL		0.637	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	C	NM_003304		142443468	1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142443468	C	T	142443468	3	4	20	1	0	0	0	0	1	0	0	0	16609	855	30	1	69	1	TRPC1	3	142443468	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	2	142443468	55578962	25	2859	15	2								
ZIC1	7545	genome.wustl.edu	37	chr3	147128259	147128259	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gccagcgcacagcacagcctCtttgctgcatcggccggggg	14	15	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:147128259C>G	ENST00000282928.4	+	1	1089	c.360C>G	c.(358-360)ctC>ctG	p.L120L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	120					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCACAGCCTCTTTGCTGCAT	0.706																																																	0													12	16	15					3																	147128259		2076	4183	6259	SO:0001819	synonymous_variant	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.360C>G	3.37:g.147128259C>G			Q2M3N1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L120	ENST00000282928.4	37	c.360	CCDS3136.1	3																																																																																			ZIC1	-	NULL		0.706	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	C	NM_003412		147128259	1	no_errors	ENST00000282928	ensembl	human	known	70_37	silent	SNP	0.999	G	G	147128259	C	G	147128259	2	3	20	1	0	0	0	0	0	0	0	1	17708	900	32	1		1	ZIC1	3	147128259	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	4684791	147128259	50894171	26	2860										
PEX5L	51555	genome.wustl.edu	37	chr3	179593161	179593161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ccataagagctcttttgatcCagttctagatgaggatgatt	9	7	2	5			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:179593161C>T	ENST00000467460.1	-	6	940	c.610G>A	c.(610-612)Gga>Aga	p.G204R	PEX5L_ENST00000476138.1_Missense_Mutation_p.G161R|PEX5L_ENST00000472994.1_Missense_Mutation_p.G145R|PEX5L_ENST00000485199.1_Missense_Mutation_p.G169R|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000464614.1_Missense_Mutation_p.G96R|PEX5L_ENST00000392649.3_Missense_Mutation_p.G96R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.G12R|PEX5L_ENST00000465751.1_Missense_Mutation_p.G180R|PEX5L_ENST00000263962.8_Missense_Mutation_p.G202R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	204					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.G204*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTTTTGATCCAGTTCTAGAT	0.378																																																	1	Substitution - Nonsense(1)	skin(1)											198	176	183					3																	179593161		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.610G>A	3.37:g.179593161C>T	ENSP00000419975:p.Gly204Arg		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G204R	ENST00000467460.1	37	c.610	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473293	0.26423	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.87491	-2.24;-2.24;-2.22;-2.26;-2.25;-2.22;-2.22;-2.26;-2.22	5.88	5.88	0.94601	.	0.276343	0.35772	N	0.002985	T	0.72423	0.3458	N	0.08118	0	0.36665	D	0.878168	B;B;B;B;B;B	0.33919	0.112;0.047;0.139;0.432;0.279;0.183	B;B;B;B;B;B	0.33521	0.039;0.027;0.025;0.165;0.086;0.039	T	0.75133	-0.3425	10	0.66056	D	0.02	-22.1714	5.5463	0.17065	0.1375:0.6375:0.1497:0.0753	.	145;180;96;202;169;204	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	204;202;169;202;96;12;161;92;145;96;180;12;12;193	ENSP00000419975:G204R;ENSP00000263962:G202R;ENSP00000418440:G169R;ENSP00000376420:G96R;ENSP00000418665:G12R;ENSP00000420555:G161R;ENSP00000418054:G145R;ENSP00000417270:G96R;ENSP00000419348:G180R	ENSP00000263962:G202R	G	-	1	0	PEX5L	181075855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.273000	0.43381	2.788000	0.95919	0.650000	0.86243	GGA	PEX5L	-	NULL		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179593161	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179593161	C	T	179593161	3	4	20	1	0	0	0	0	1	0	0	0	11773	603	21	4	1310	4	PEX5L	3	179593161	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	32464902	179593161	18429269	27	2861										
LIPH	200879	genome.wustl.edu	37	chr3	185252685	185252685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ttcatgtcttcaacagagagCaaaccctttactaagtcatc	5	11	4	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:185252685C>T	ENST00000296252.4	-	2	426	c.285G>A	c.(283-285)ttG>ttA	p.L95L	LIPH_ENST00000424591.2_Silent_p.L95L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	95					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACAGAGAGCAAACCCTTTA	0.433																																																	0													129	122	124					3																	185252685		2203	4300	6503	SO:0001819	synonymous_variant	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.285G>A	3.37:g.185252685C>T			A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L95	ENST00000296252.4	37	c.285	CCDS3272.1	3																																																																																			LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.433	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	C			185252685	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	silent	SNP	1.000	T	T	185252685	C	T	185252685	2	4	20	1	0	0	0	0	0	0	0	1	8845	709	25	4		4	LIPH	3	185252685	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	5659524	185252685	12769745	28	2862										
TP63	8626	genome.wustl.edu	37	chr3	189608648	189608648	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aggggctgaccaccatctatCagattgagcattactccatg	9	11	2	3			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr3:189608648C>T	ENST00000264731.3	+	13	1812	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	TP63_ENST00000456148.1_Nonsense_Mutation_p.Q477*|TP63_ENST00000354600.5_Nonsense_Mutation_p.Q481*|TP63_ENST00000382063.4_Nonsense_Mutation_p.Q490*|TP63_ENST00000392463.2_Intron|TP63_ENST00000440651.2_Nonsense_Mutation_p.Q571*|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000449992.1_Nonsense_Mutation_p.Q396*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	575	SAM.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACCATCTATCAGATTGAGCA	0.443										HNSCC(45;0.13)																																							0													110	99	103					3																	189608648		2203	4300	6503	SO:0001587	stop_gained	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1723C>T	3.37:g.189608648C>T	ENSP00000264731:p.Gln575*		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.Q575*	ENST00000264731.3	37	c.1723	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.179129	0.98118	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3391	19.3475	0.94370	0.0:1.0:0.0:0.0	.	.	.	.	X	575;571;490;481;396;477	.	.	Q	+	1	0	TP63	191091342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.429000	0.80309	2.816000	0.96949	0.563000	0.77884	CAG	TP63	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.443	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	C	NM_003722		189608648	1	no_errors	ENST00000264731	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	189608648	C	T	189608648	4	4	20	1	0	0	0	0	0	1	0	0	16423	827	29	1	1938	1	TP63	3	189608648	Nonsense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	4355963	189608648	8413782	29	2863										
DCHS2	54798	genome.wustl.edu	37	chr4	155161923	155161923	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ctgaatatgaaagctgaattCaaatccacatcatgaactga	6	8	2	5			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr4:155161923C>G	ENST00000357232.4	-	23	5759	c.5760G>C	c.(5758-5760)ttG>ttC	p.L1920F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1920	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCTGAATTCAAATCCACAT	0.393																																																	0													98	88	91					4																	155161923		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5760G>C	4.37:g.155161923C>G	ENSP00000349768:p.Leu1920Phe		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1920F	ENST00000357232.4	37	c.5760	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698812	0.48307	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.96	2.9	0.33743	Cadherin (4);Cadherin-like (1);	0.235259	0.28946	N	0.013633	T	0.59891	0.2227	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.58808	-0.7571	10	0.54805	T	0.06	.	7.0119	0.24867	0.0:0.5849:0.1249:0.2902	.	1920	Q6V1P9	PCD23_HUMAN	F	1920	ENSP00000349768:L1920F	ENSP00000349768:L1920F	L	-	3	2	DCHS2	155381373	0.912000	0.30974	0.997000	0.53966	0.872000	0.50106	0.288000	0.18939	0.860000	0.35481	0.655000	0.94253	TTG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155161923	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.966	G	G	155161923	C	G	155161923	3	3	20	1	0	0	0	0	1	0	0	0	4293	825	29	1	3002	1	DCHS2	4	155161923	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		155161923	35992353	30	2864										
C5orf54	63920	genome.wustl.edu	37	chr5	159821108	159821108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tgcctcattaagatctccaaTggaaaaatatccatggaaga	7	8	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr5:159821108T>C	ENST00000408953.3	-	2	1897	c.1390A>G	c.(1390-1392)Att>Gtt	p.I464V	C5orf54_ENST00000523213.1_Missense_Mutation_p.I464V	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						agatctccaatggaaaaatat	0.308																																																	0													75	77	76					5																	159821108		2203	4298	6501	SO:0001583	missense	63920																														ENST00000408953.3:c.1390A>G	5.37:g.159821108T>C	ENSP00000386184:p.Ile464Val			Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.I464V	ENST00000408953.3	37	c.1390	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	T	0	-2.779334	0.00079	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.22539	1.95;1.95	3.01	-2.87	0.05700	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	0.29301	T	0.29	.	8.6655	0.34118	0.0:0.3052:0.0:0.6948	.	464	Q8IZ13	CE054_HUMAN	V	464	ENSP00000386184:I464V;ENSP00000428831:I464V	ENSP00000386184:I464V	I	-	1	0	C5orf54	159753686	0.003000	0.15002	0.086000	0.20670	0.849000	0.48306	-0.596000	0.05720	-0.815000	0.04346	-0.798000	0.03219	ATT	C5orf54	-	NULL		0.308	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	T			159821108	-1	no_errors	ENST00000408953	ensembl	human	known	70_37	missense	SNP	0.106	C	C	159821108	T	C	159821108	3	2	20	1	0	0	0	0	1	0	0	0	2315	1464	51	5	398	5	C5orf54	5	159821108	Missense_Mutation	SNP	T	TCGA-C5-A1MF-01A-11D-A13W-08		159821108	21094152	31	2865										
WRNIP1	56897	genome.wustl.edu	37	chr6	2766657	2766657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	atcccctcgcttatcctgtgGgggccgccgggctgcggcaa	14	15	0	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:2766657G>T	ENST00000380773.4	+	1	1010	c.801G>T	c.(799-801)tgG>tgT	p.W267C	WRNIP1_ENST00000380771.4_Missense_Mutation_p.W267C|WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380769.4_Missense_Mutation_p.W47C	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATCCTGTGGGGGCCGCCGG	0.652																																																	0													11	10	11					6																	2766657		2189	4281	6470	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.801G>T	6.37:g.2766657G>T	ENSP00000370150:p.Trp267Cys			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.W267C	ENST00000380773.4	37	c.801	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903076	0.52227	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769	D;D;D	0.92752	-3.1;-3.1;-3.1	4.31	4.31	0.51392	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.060349	0.64402	D	0.000001	D	0.93174	0.7826	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94280	0.7519	10	0.87932	D	0	-12.9406	15.9965	0.80250	0.0:0.0:1.0:0.0	.	267;267	Q96S55-2;Q96S55	.;WRIP1_HUMAN	C	267;267;47	ENSP00000370150:W267C;ENSP00000370148:W267C;ENSP00000370146:W47C	ENSP00000370146:W47C	W	+	3	0	WRNIP1	2711656	1.000000	0.71417	0.967000	0.41034	0.025000	0.11179	8.575000	0.90766	2.227000	0.72691	0.485000	0.47835	TGG	WRNIP1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.652	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	G	NM_130395		2766657	1	no_errors	ENST00000380773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2766657	G	T	2766657	3	4	20	1	0	0	0	0	1	0	0	0	17434	1241	43	4	803	4	WRNIP1	6	2766657	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		2766657	168348410	32	2866										
BTN2A2	10385	genome.wustl.edu	37	chr6	26392863	26392863	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gggaggtcctgctgattcctCagaatggcttctggaccctg	13	11	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:26392863C>T	ENST00000356709.4	+	8	1351	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.Q204*|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.Q298*|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.Q414*|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	414	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCTGATTCCTCAGAATGGCTT	0.557																																																	0													127	120	122					6																	26392863		2203	4300	6503	SO:0001587	stop_gained	10385			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1240C>T	6.37:g.26392863C>T	ENSP00000349143:p.Gln414*		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.Q414*	ENST00000356709.4	37	c.1240	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	.	17.94	3.512297	0.64522	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	.	.	.	3.92	-0.928	0.10448	.	0.665201	0.13364	N	0.393453	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.1852	0.37165	0.0:0.2848:0.6173:0.0979	.	.	.	.	X	209;414;298;204;414	.	ENSP00000337117:Q298X	Q	+	1	0	BTN2A2	26500842	0.000000	0.05858	0.148000	0.22405	0.790000	0.44656	-2.585000	0.00903	-0.070000	0.12908	-0.503000	0.04515	CAG	BTN2A2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.557	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	C			26392863	1	no_errors	ENST00000356709	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	26392863	C	T	26392863	4	4	20	1	0	0	0	0	0	1	0	0	1564	827	29	1	1266	1	BTN2A2	6	26392863	Nonsense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	23626206	26392863	144722204	33	2867										
COL12A1	1303	genome.wustl.edu	37	chr6	75884903	75884903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cagtgacctcttgagtttcaCcccctgccactggggtatat	9	13	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:75884903C>A	ENST00000322507.8	-	13	2870	c.2561G>T	c.(2560-2562)gGt>gTt	p.G854V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G854V|COL12A1_ENST00000416123.2_Missense_Mutation_p.G854V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	854	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGAGTTTCACCCCCTGCCAC	0.483																																																	0													218	217	217					6																	75884903		1952	4132	6084	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2561G>T	6.37:g.75884903C>A	ENSP00000325146:p.Gly854Val		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G854V	ENST00000322507.8	37	c.2561	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714710	0.68730	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.59838	0.2223	M	0.85041	2.73	0.80722	D	1	B	0.25351	0.124	B	0.31337	0.128	T	0.62627	-0.6814	10	0.66056	D	0.02	.	20.0326	0.97545	0.0:1.0:0.0:0.0	.	854	Q99715	COCA1_HUMAN	V	854	ENSP00000325146:G854V;ENSP00000412864:G854V;ENSP00000421216:G854V	ENSP00000325146:G854V	G	-	2	0	COL12A1	75941623	1.000000	0.71417	0.939000	0.37840	0.951000	0.60555	7.487000	0.81328	2.732000	0.93576	0.557000	0.71058	GGT	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75884903	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75884903	C	A	75884903	3	1	20	1	0	0	0	0	1	0	0	0	3674	507	18	4	6846	4	COL12A1	6	75884903	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	49492040	75884903	95230164	34	2868										
C6orf192	116843	genome.wustl.edu	37	chr6	133100529	133100529	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cagtttccagaatgagtgttCacctggatcagactctttag	9	9	3	3			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:133100529C>T	ENST00000275227.4	-	7	769	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	SLC18B1_ENST00000538764.1_Missense_Mutation_p.E99K|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	225					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AATGAGTGTTCACCTGGATCA	0.368																																																	0													133	130	131					6																	133100529		2203	4300	6503	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.673G>A	6.37:g.133100529C>T	ENSP00000275227:p.Glu225Lys		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E225K	ENST00000275227.4	37	c.673	CCDS5163.1	6	.	.	.	.	.	.	.	.	.	.	C	3.674	-0.066875	0.07273	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.56776	0.44;0.44	5.07	-3.54	0.04653	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.654282	0.16974	N	0.191984	T	0.03011	0.0089	N	0.00387	-1.565	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.35251	-0.9796	10	0.02654	T	1	-1.2883	6.8059	0.23777	0.0:0.2285:0.2489:0.5227	.	99;225	B7Z1S5;Q6NT16	.;CF192_HUMAN	K	225;99	ENSP00000275227:E225K;ENSP00000444098:E99K	ENSP00000275227:E225K	E	-	1	0	C6orf192	133142222	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-0.352000	0.07701	-0.871000	0.04042	-0.311000	0.09066	GAA	SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.368	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	C	NM_052831		133100529	-1	no_errors	ENST00000275227	ensembl	human	known	70_37	missense	SNP	0.000	T	T	133100529	C	T	133100529	3	4	20	1	0	0	0	0	1	0	0	0	2354	835	29	1	729	1	C6orf192	6	133100529	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	57215626	133100529	38014538	35	2869										
ECT2L	345930	genome.wustl.edu	37	chr6	139203908	139203908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	actgcaggaatggggcccagCtcactgtgtgggagaaatag	15	8	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:139203908C>A	ENST00000423192.1	+	15	2089	c.1928C>A	c.(1927-1929)gCt>gAt	p.A643D	ECT2L_ENST00000541398.1_Missense_Mutation_p.A574D|ECT2L_ENST00000367682.2_Missense_Mutation_p.A643D			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	643	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGGCCCAGCTCACTGTGTG	0.403			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													97	95	96					6																	139203908		1905	4126	6031	SO:0001583	missense	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1928C>A	6.37:g.139203908C>A	ENSP00000387388:p.Ala643Asp		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain	p.A643D	ENST00000423192.1	37	c.1928	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235710	0.39498	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.63913	1.56;1.56;-0.07	5.74	5.74	0.90152	Dbl homology (DH) domain (5);	0.447632	0.13783	U	0.363099	T	0.54615	0.1869	N	0.16743	0.435	0.36997	D	0.895052	P;D	0.89917	0.592;1.0	B;D	0.85130	0.287;0.997	T	0.48410	-0.9038	10	0.12103	T	0.63	-5.1854	16.8389	0.85963	0.0:1.0:0.0:0.0	.	574;643	F5H7S9;Q008S8	.;ECT2L_HUMAN	D	643;643;574	ENSP00000387388:A643D;ENSP00000356655:A643D;ENSP00000442307:A574D	ENSP00000356655:A643D	A	+	2	0	ECT2L	139245601	0.419000	0.25449	0.985000	0.45067	0.738000	0.42128	2.228000	0.42981	2.716000	0.92895	0.650000	0.86243	GCT	ECT2L	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.403	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	C	NM_001077706		139203908	1	no_errors	ENST00000367682	ensembl	human	known	70_37	missense	SNP	0.955	A	A	139203908	C	A	139203908	3	1	20	1	0	0	0	0	1	0	0	0	4912	797	28	4	1982	4	ECT2L	6	139203908	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	6103379	139203908	31911159	36	2870										
LRP11	84918	genome.wustl.edu	37	chr6	150158587	150158587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agaagtggtagcgtgagcaaGtgtgcaaacatcctatttgt	12	6	0	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:150158587G>A	ENST00000239367.2	-	4	931	c.926C>T	c.(925-927)aCt>aTt	p.T309I	LRP11_ENST00000463728.1_5'Flank|LRP11_ENST00000546019.1_Missense_Mutation_p.T54I	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	309	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCGTGAGCAAGTGTGCAAACA	0.502																																																	0													100	83	89					6																	150158587		2203	4300	6503	SO:0001583	missense	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.926C>T	6.37:g.150158587G>A	ENSP00000239367:p.Thr309Ile		Q5VYC0|Q96SN6	Missense_Mutation	SNP	pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom	p.T309I	ENST00000239367.2	37	c.926	CCDS5220.1	6	.	.	.	.	.	.	.	.	.	.	G	4.961	0.178578	0.09443	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	D;D	0.96073	-3.9;-3.9	5.32	-6.42	0.01932	.	1.088120	0.06913	N	0.808005	D	0.84524	0.5491	L	0.51914	1.62	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.73672	-0.3909	10	0.25751	T	0.34	-0.2783	9.5034	0.39031	0.1639:0.1089:0.6201:0.1071	.	309	Q86VZ4	LRP11_HUMAN	I	309;54	ENSP00000239367:T309I;ENSP00000440196:T54I	ENSP00000239367:T309I	T	-	2	0	LRP11	150200280	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.289000	0.18957	-1.188000	0.02705	-0.484000	0.04775	ACT	LRP11	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.502	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP11	HGNC	protein_coding	OTTHUMT00000042664.1	G	NM_032832		150158587	-1	no_errors	ENST00000239367	ensembl	human	known	70_37	missense	SNP	0.000	A	A	150158587	G	A	150158587	3	1	20	1	0	0	0	0	1	0	0	0	8976	1029	36	4	592	4	LRP11	6	150158587	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	10954679	150158587	20956480	37	2871										
PARK2	5071	genome.wustl.edu	37	chr6	161969941	161969941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ctttcctctggtcaggctccGgcagcagccccgctccacag	10	18	2	0	rs529808032		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr6:161969941G>A	ENST00000366898.1	-	9	1130	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	PARK2_ENST00000338468.3_Missense_Mutation_p.P152L|PARK2_ENST00000366896.1_Missense_Mutation_p.P194L|PARK2_ENST00000366897.1_Missense_Mutation_p.P315L|PARK2_ENST00000366892.1_Missense_Mutation_p.P343L|PARK2_ENST00000366894.1_Missense_Mutation_p.P152L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	343					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.P343Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		13445	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											63	65	64					6																	161969941		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1028C>T	6.37:g.161969941G>A	ENSP00000355865:p.Pro343Leu		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr	p.P343L	ENST00000366898.1	37	c.1028	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599157	0.46318	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.72	4.86	0.63082	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	M	0.76002	2.32	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.976;0.996;0.99	D	0.89255	0.3593	10	0.10377	T	0.69	.	13.0206	0.58784	0.0744:0.0:0.9256:0.0	.	362;194;315;343;152	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	L	343;315;194;152;152;152;343	ENSP00000355865:P343L;ENSP00000355863:P315L;ENSP00000355862:P194L;ENSP00000355860:P152L;ENSP00000343589:P152L;ENSP00000355858:P343L	ENSP00000343589:P152L	P	-	2	0	PARK2	161889931	1.000000	0.71417	0.448000	0.26945	0.296000	0.27459	7.804000	0.85993	1.416000	0.47057	0.650000	0.86243	CCG	PARK2	-	pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin		0.637	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	G			161969941	-1	no_errors	ENST00000366898	ensembl	human	known	70_37	missense	SNP	0.972	A	A	161969941	G	A	161969941	3	1	20	1	0	0	0	0	1	0	0	0	11473	1116	39	2	385	2	PARK2	6	161969941	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	11811354	161969941	9145126	38	2872										
CDK13	8621	genome.wustl.edu	37	chr7	40118338	40118338	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gtattcctgcagctgcgctaGacttatttgattacatgctt	8	9	0	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:40118338G>A	ENST00000181839.4	+	11	3522	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N	CDK13_ENST00000340829.5_Missense_Mutation_p.D973N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	973	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGCTGCGCTAGACTTATTTGA	0.408																																																	0													101	99	99					7																	40118338		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2917G>A	7.37:g.40118338G>A	ENSP00000181839:p.Asp973Asn		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.D973N	ENST00000181839.4	37	c.2917	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558744	0.86231	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.53206	0.63;0.63	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68550	0.3013	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;0.967	D;P	0.87578	0.998;0.838	T	0.66420	-0.5928	8	.	.	.	-12.9586	19.5568	0.95354	0.0:0.0:1.0:0.0	.	973;973	Q14004-2;Q14004	.;CDK13_HUMAN	N	973	ENSP00000181839:D973N;ENSP00000340557:D973N	.	D	+	1	0	CDK13	40084863	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.689000	0.91719	0.655000	0.94253	GAC	CDK13	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.408	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	G	NM_003718		40118338	1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40118338	G	A	40118338	3	1	20	1	0	0	0	0	1	0	0	0	3134	942	33	1	2959	1	CDK13	7	40118338	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		40118338	119020325	39	2873										
SBDS	51119	genome.wustl.edu	37	chr7	66460333	66460333	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	caggcgatttcgaagcgcttCccggcacgcttcatccgtac	10	15	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:66460333C>T	ENST00000246868.2	-	1	255	c.72G>A	c.(70-72)ggG>ggA	p.G24G	TYW1_ENST00000491969.1_3'UTR|TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	24					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CGAAGCGCTTCCCGGCACGCT	0.637			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													64	60	61					7																	66460333		2203	4300	6503	SO:0001819	synonymous_variant	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.72G>A	7.37:g.66460333C>T			A8K0P4|Q96FX0|Q9NV53	Silent	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.G24	ENST00000246868.2	37	c.72	CCDS5537.1	7																																																																																			SBDS	-	pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS		0.637	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	C	NM_016038		66460333	-1	no_errors	ENST00000246868	ensembl	human	known	70_37	silent	SNP	0.998	T	T	66460333	C	T	66460333	2	4	20	1	0	0	0	0	0	0	0	1	13887	842	30	1		1	SBDS	7	66460333	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	26341995	66460333	92678330	40	2874										
ASB4	51666	genome.wustl.edu	37	chr7	95157220	95157220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cggagctggtggccttctacGtggaacacggggccatagtg	16	10	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:95157220G>A	ENST00000325885.5	+	3	654	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	ASB4_ENST00000428113.1_Missense_Mutation_p.V195M	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	195					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GGCCTTCTACGTGGAACACGG	0.597											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	65	70					7																	95157220		2203	4300	6503	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.583G>A	7.37:g.95157220G>A	ENSP00000321388:p.Val195Met	1310	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.V195M	ENST00000325885.5	37	c.583	CCDS5641.1	7	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422027	0.43020	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.47528	0.84;0.84	4.87	2.99	0.34606	Ankyrin repeat-containing domain (3);	0.149413	0.48286	D	0.000192	T	0.38401	0.1039	L	0.38692	1.165	0.47214	D	0.999357	P;P	0.49307	0.806;0.922	B;B	0.43889	0.24;0.435	T	0.34054	-0.9844	10	0.72032	D	0.01	-10.5066	9.5337	0.39209	0.0762:0.0:0.779:0.1448	.	195;195	Q9Y574;Q14D68	ASB4_HUMAN;.	M	195	ENSP00000321388:V195M;ENSP00000397070:V195M	ENSP00000321388:V195M	V	+	1	0	ASB4	94995156	0.348000	0.24861	1.000000	0.80357	0.885000	0.51271	0.682000	0.25335	1.324000	0.45282	0.462000	0.41574	GTG	ASB4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	HGNC	protein_coding	OTTHUMT00000333225.2	G	NM_016116		95157220	1	no_errors	ENST00000325885	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95157220	G	A	95157220	3	1	20	1	0	0	0	0	1	0	0	0	1026	1145	40	2	593	2	ASB4	7	95157220	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	28696887	95157220	63981443	41	2875										
SPDYE3	441272	genome.wustl.edu	37	chr7	99909547	99909547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ggcgaagcgacggcgagtgtCgctcgtgctccctgagtact	15	12	0	1	rs200472341		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr7:99909547C>T	ENST00000332397.6	+	4	903	c.719C>T	c.(718-720)tCg>tTg	p.S240L	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CGGCGAGTGTCGCTCGTGCTC	0.577																																																	0													7	9	8					7																	99909547		1279	3334	4613	SO:0001583	missense	441272			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.719C>T	7.37:g.99909547C>T	ENSP00000329565:p.Ser240Leu		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S240L	ENST00000332397.6	37	c.719	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	-	8.254	0.809569	0.16537	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	2.506560	0.02226	N	0.064459	T	0.36496	0.0969	L	0.34521	1.04	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36335	-0.9752	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	L	240	.	ENSP00000329565:S240L	S	+	2	0	SPDYE3	99747483	0.416000	0.25424	0.019000	0.16419	0.019000	0.09904	-0.098000	0.11024	0.259000	0.21709	0.264000	0.19307	TCG	SPDYE3	-	NULL		0.577	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	C	NM_001004351		99909547	1	no_errors	ENST00000332397	ensembl	human	known	70_37	missense	SNP	0.022	T	T	99909547	C	T	99909547	3	4	20	1	0	0	0	0	1	0	0	0	15060	893	31	1	733	1	SPDYE3	7	99909547	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	4752327	99909547	59229116	42	2876										
BHLHE22	27319	genome.wustl.edu	37	chr8	65494180	65494180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cgcgcacagcccctcggtgcGaaagctctccaagatcgcca	10	17	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr8:65494180G>A	ENST00000321870.1	+	1	1367	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	278	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCCTCGGTGCGAAAGCTCTCC	0.647																																					Colon(113;104 1586 2865 9855 18065)												0													27	26	26					8																	65494180		2203	4300	6503	SO:0001583	missense	27319			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.833G>A	8.37:g.65494180G>A	ENSP00000318799:p.Arg278Gln			Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R278Q	ENST00000321870.1	37	c.833	CCDS6179.1	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034571	0.75617	.	.	ENSG00000180828	ENST00000321870	D	0.97870	-4.58	4.01	4.01	0.46588	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000014	D	0.97904	0.9311	L	0.46947	1.48	0.54753	D	0.999982	D	0.76494	0.999	D	0.79108	0.992	D	0.99107	1.0845	10	0.87932	D	0	-7.8122	15.9119	0.79479	0.0:0.0:1.0:0.0	.	278	Q8NFJ8	BHE22_HUMAN	Q	278	ENSP00000318799:R278Q	ENSP00000318799:R278Q	R	+	2	0	BHLHE22	65656734	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.300000	0.78841	2.036000	0.60181	0.313000	0.20887	CGA	BHLHE22	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.647	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1	G	NM_152414		65494180	1	no_errors	ENST00000321870	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65494180	G	A	65494180	3	1	20	1	0	0	0	0	1	0	0	0	1422	1058	37	1	835	1	BHLHE22	8	65494180	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		65494180	80869842	43	2877										
OPLAH	26873	genome.wustl.edu	37	chr8	145106962	145106962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cccgccgcagctcgaagcggCgcaggatgaccgggtacctg	15	15	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr8:145106962C>T	ENST00000426825.1	-	25	3560	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H	CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1160					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCGAAGCGGCGCAGGATGAC	0.751																																																	0													13	16	15					8																	145106962		1657	3668	5325	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3479G>A	8.37:g.145106962C>T	ENSP00000475943:p.Arg1160His		A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918497	0.52546	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.57	4.57	0.56435	.	0.236780	0.40302	N	0.001131	T	0.58250	0.2109	.	.	.	0.35141	D	0.768879	D	0.62365	0.991	P	0.58266	0.836	T	0.66135	-0.5999	7	0.30078	T	0.28	.	8.6715	0.34154	0.0:0.8941:0.0:0.1059	.	1160	O14841	OPLA_HUMAN	H	1160	.	ENSP00000412071:R1160H	R	-	2	0	OPLAH	145178950	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.519000	0.45546	2.096000	0.63516	0.643000	0.83706	CGC	OPLAH	-	-		0.751	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		C	NM_017570		145106962	-1	no_errors	ENST00000426825	ensembl	human	known	70_37	rna	SNP	1.000	T	T	145106962	C	T	145106962	3	4	20	1	0	0	0	0	1	0	0	0	10900	768	27	2	401	2	OPLAH	8	145106962	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	79612782	145106962	1257060	44	2878										
NOTCH1	4851	genome.wustl.edu	37	chr9	139399461	139399461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tctcgggtacatgctccgcaCagtccagcccgtcccactcg	9	18	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr9:139399461C>T	ENST00000277541.6	-	26	4757	c.4682G>A	c.(4681-4683)tGt>tAt	p.C1561Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1561					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCTCCGCACAGTCCAGCCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													15	22	20					9																	139399461		2176	4281	6457	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4682G>A	9.37:g.139399461C>T	ENSP00000277541:p.Cys1561Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1561Y	ENST00000277541.6	37	c.4682	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949210	0.73787	.	.	ENSG00000148400	ENST00000277541	D	0.97505	-4.41	4.08	4.08	0.47627	Notch domain (5);	0.000000	0.85682	U	0.000000	D	0.98532	0.9510	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99768	1.1023	10	0.87932	D	0	.	15.2556	0.73582	0.0:1.0:0.0:0.0	.	1561	P46531	NOTC1_HUMAN	Y	1561	ENSP00000277541:C1561Y	ENSP00000277541:C1561Y	C	-	2	0	NOTCH1	138519282	1.000000	0.71417	0.937000	0.37676	0.632000	0.37999	7.623000	0.83113	1.814000	0.52955	0.579000	0.79373	TGT	NOTCH1	-	superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139399461	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139399461	C	T	139399461	3	4	20	1	0	0	0	0	1	0	0	0	10571	478	17	4	3021	4	NOTCH1	9	139399461	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		139399461	1813970	45	2879										
SFMBT2	57713	genome.wustl.edu	37	chr10	7423844	7423844	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ggtcttgcatattggaagctGacaaagtgctctccatgcct	10	10	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:7423844G>C	ENST00000361972.4	-	2	107	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SFMBT2_ENST00000397160.3_Nonsense_Mutation_p.S6*|SFMBT2_ENST00000379713.3_Nonsense_Mutation_p.S6*|SFMBT2_ENST00000379711.2_Nonsense_Mutation_p.S6*|SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.S6*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	6					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATTGGAAGCTGACAAAGTGCT	0.403																																																	0													118	111	113					10																	7423844		2203	4300	6503	SO:0001587	stop_gained	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.17C>G	10.37:g.7423844G>C	ENSP00000355109:p.Ser6*		A7MD09|Q9HCF5	Nonsense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.S6*	ENST00000361972.4	37	c.17	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859830	0.91433	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	.	.	.	5.41	5.41	0.78517	.	0.765891	0.10900	N	0.621722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.7862	0.69806	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000355109:S6X	S	-	2	0	SFMBT2	7463850	0.817000	0.29147	0.022000	0.16811	0.029000	0.11900	4.693000	0.61753	2.553000	0.86117	0.650000	0.86243	TCA	SFMBT2	-	NULL		0.403	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	G	NM_001029880		7423844	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	nonsense	SNP	0.049	C	C	7423844	G	C	7423844	4	2	20	1	0	0	0	0	0	1	0	0	14188	1294	45	1	2747	1	SFMBT2	10	7423844	Nonsense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		7423844	128110903	46	2880										
SEC61A2	55176	genome.wustl.edu	37	chr10	12203080	12203080	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ggggtcatgtgcattcttctCtaagacatggattgaagtgt	12	6	3	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:12203080C>G	ENST00000298428.9	+	10	1216	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	SEC61A2_ENST00000304267.8_Missense_Mutation_p.S376C|SEC61A2_ENST00000379020.4_Missense_Mutation_p.S310C|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.S354C	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	376					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GCATTCTTCTCTAAGACATGG	0.423																																																	0													188	145	160					10																	12203080		2203	4300	6503	SO:0001583	missense	55176			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1127C>G	10.37:g.12203080C>G	ENSP00000298428:p.Ser376Cys		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.S376C	ENST00000298428.9	37	c.1127	CCDS7088.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571115	0.86542	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560	.	.	.	5.54	5.54	0.83059	SecY subunit domain (2);	0.000000	0.64402	D	0.000004	D	0.90338	0.6977	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	D;D;D	0.91635	0.976;0.999;0.999	D	0.93260	0.6642	9	0.87932	D	0	-11.7642	18.8446	0.92200	0.0:1.0:0.0:0.0	.	354;376;376	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	C	354;376;376;310;124	.	ENSP00000298428:S376C	S	+	2	0	SEC61A2	12243086	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	TCT	SEC61A2	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha		0.423	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	C	NM_018144		12203080	1	no_errors	ENST00000298428	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12203080	C	G	12203080	3	3	20	1	0	0	0	0	1	0	0	0	14031	913	32	1	1165	1	SEC61A2	10	12203080	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	4779236	12203080	123331667	47	2881										
UCMA	221044	genome.wustl.edu	37	chr10	13275614	13275614	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gaggcatctgattcctgcatGaaaatcttctgttttgcatc	8	9	3	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:13275614G>A	ENST00000378681.3	-	3	216	c.144C>T	c.(142-144)ttC>ttT	p.F48F	UCMA_ENST00000463405.2_Silent_p.F26F	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	48					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						ATTCCTGCATGAAAATCTTCT	0.592																																																	0													77	79	78					10																	13275614		2203	4300	6503	SO:0001819	synonymous_variant	221044			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.144C>T	10.37:g.13275614G>A				Silent	SNP	NULL	p.F48	ENST00000378681.3	37	c.144	CCDS31147.1	10																																																																																			UCMA	-	NULL		0.592	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2	G	NM_145314		13275614	-1	no_errors	ENST00000378681	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13275614	G	A	13275614	2	1	20	1	0	0	0	0	0	0	0	1	16957	1281	45	1		1	UCMA	10	13275614	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	1072534	13275614	122259133	48	2882										
PRLHR	2834	genome.wustl.edu	37	chr10	120353959	120353959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cgccgagcgcggtcccagtcGgcctggctctgggtcacgca	15	16	2	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr10:120353959G>A	ENST00000369169.1	-	1	797	c.798C>T	c.(796-798)gcC>gcT	p.A266A	PRLHR_ENST00000239032.2_Silent_p.A266A			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	266					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGTCCCAGTCGGCCTGGCTCT	0.672																																																	0													20	22	21					10																	120353959		2186	4286	6472	SO:0001819	synonymous_variant	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.798C>T	10.37:g.120353959G>A			O75194|Q502U8|Q5VXR9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A266	ENST00000369169.1	37	c.798	CCDS7606.1	10																																																																																			PRLHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt		0.672	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	G	NM_004248		120353959	-1	no_errors	ENST00000239032	ensembl	human	known	70_37	silent	SNP	0.204	A	A	120353959	G	A	120353959	2	1	20	1	0	0	0	0	0	0	0	1	12557	1103	39	2		2	PRLHR	10	120353959	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	107078345	120353959	15180788	49	2883										
PRR5L	79899	genome.wustl.edu	37	chr11	36484190	36484190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ccgccccaccggcagtgctcCagtgagcccaacatcactga	9	18	1	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr11:36484190C>T	ENST00000378867.3	+	10	1366	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.S264S|PRR5L_ENST00000530639.1_Silent_p.S337S	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	337					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GGCAGTGCTCCAGTGAGCCCA	0.667																																																	0													31	31	31					11																	36484190		2200	4297	6497	SO:0001819	synonymous_variant	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1011C>T	11.37:g.36484190C>T			A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	pfam_HbrB	p.S337	ENST00000378867.3	37	c.1011	CCDS31463.1	11																																																																																			PRR5L	-	NULL		0.667	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	C	NM_024841		36484190	1	no_errors	ENST00000378867	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36484190	C	T	36484190	2	4	20	1	0	0	0	0	0	0	0	1	12629	581	21	4		4	PRR5L	11	36484190	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		36484190	98522326	50	2884										
GPR137	56834	genome.wustl.edu	37	chr11	64055225	64055225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aggggcctttgtgggggcctCgctgctctttctgctggtga	16	10	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr11:64055225C>T	ENST00000313074.3	+	3	545	c.440C>T	c.(439-441)tCg>tTg	p.S147L	GPR137_ENST00000411458.1_Missense_Mutation_p.S205L|GPR137_ENST00000377702.4_Missense_Mutation_p.S147L|GPR137_ENST00000438980.2_Missense_Mutation_p.S147L|GPR137_ENST00000539851.1_Missense_Mutation_p.S147L	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	147						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GTGGGGGCCTCGCTGCTCTTT	0.682																																																	0													52	61	58					11																	64055225		2201	4296	6497	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.440C>T	11.37:g.64055225C>T	ENSP00000321698:p.Ser147Leu		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	NULL	p.S147L	ENST00000313074.3	37	c.440	CCDS8066.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242016	0.79912	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074	T;T;T;T;T	0.51071	0.72;0.78;0.78;0.76;0.74	4.79	4.79	0.61399	.	0.159922	0.42964	D	0.000622	T	0.59715	0.2214	L	0.43923	1.385	0.43508	D	0.995768	D;D;D;P;P;D;D	0.89917	0.994;1.0;0.994;0.803;0.893;0.998;0.994	D;D;P;B;P;D;D	0.79108	0.979;0.992;0.901;0.104;0.519;0.979;0.979	T	0.61840	-0.6980	10	0.72032	D	0.01	-14.5261	13.1871	0.59688	0.0:1.0:0.0:0.0	.	147;205;153;147;147;147;147	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	L	153;205;147;147;147;147;147;147;147;147	ENSP00000411827:S205L;ENSP00000442792:S147L;ENSP00000441003:S147L;ENSP00000415698:S147L;ENSP00000321698:S147L	ENSP00000321698:S147L	S	+	2	0	GPR137	63811801	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	1.911000	0.39937	2.484000	0.83849	0.561000	0.74099	TCG	GPR137	-	NULL		0.682	GPR137-003	KNOWN	basic|CCDS	protein_coding	GPR137	HGNC	protein_coding	OTTHUMT00000396412.1	C	NM_020155		64055225	1	no_errors	ENST00000313074	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64055225	C	T	64055225	3	4	20	1	0	0	0	0	1	0	0	0	6664	893	31	1	632	1	GPR137	11	64055225	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	27571035	64055225	70951291	51	2885										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103049938	103049938	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tgcatcaccagccacaatatCtagaatgggaatgatctttc	7	10	3	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr11:103049938C>G	ENST00000375735.2	+	39	6467	c.6323C>G	c.(6322-6324)tCt>tGt	p.S2108C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S2108C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2108	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCCACAATATCTAGAATGGGA	0.333																																																	0													101	99	100					11																	103049938		1839	4090	5929	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6323C>G	11.37:g.103049938C>G	ENSP00000364887:p.Ser2108Cys		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S2108C	ENST00000375735.2	37	c.6323	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108839	0.77096	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.94862	-3.54;-3.54	5.36	4.45	0.53987	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.98223	0.9412	H	0.97291	3.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99297	1.0900	9	0.87932	D	0	.	14.2719	0.66157	0.0:0.928:0.0:0.072	.	2108;2108	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2108	ENSP00000364887:S2108C;ENSP00000381167:S2108C	ENSP00000364887:S2108C	S	+	2	0	DYNC2H1	102555148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.583000	0.82559	1.400000	0.46741	0.650000	0.86243	TCT	DYNC2H1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103049938	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103049938	C	G	103049938	3	3	20	1	0	0	0	0	1	0	0	0	4856	913	32	1	6477	1	DYNC2H1	11	103049938	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	38994713	103049938	31956578	52	2886										
VWF	7450	genome.wustl.edu	37	chr12	6062680	6062682	+	In_Frame_Del	DEL	TCC	TCC	-													0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	accttcagtgtcatgatctgTcctcctcttagctgaatggt							TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:6062680_6062682delTCC	ENST00000261405.5	-	48	8220_8222	c.7966_7968delGGA	c.(7966-7968)ggadel	p.G2656del		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2656					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCATGATCTGTCCTCCTCTTAGC	0.463																																																	0																																										SO:0001651	inframe_deletion	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7966_7968delGGA	12.37:g.6062683_6062685delTCC	ENSP00000261405:p.Gly2656del		Q8TCE8|Q99806	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.G2656in_frame_del	ENST00000261405.5	37	c.7968_7966	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF		0.463	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	TCC	NM_000552		6062682	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	in_frame_del	DEL	0.994:1.000:1.000	-	-	6062682	TCC	-	6062680	7	5	20	1	0	1	0	1	0	0	0	0	17277	1654	58	0	493	0	VWF	12	6062680	In_Frame_Del	DEL	TCC	TCGA-C5-A1MF-01A-11D-A13W-08		6062680	127789215	53	2887										
A2M	2	genome.wustl.edu	37	chr12	9265042	9265042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	actgtcctcgttcttaaccaTcactgtggtccgcttcttaa	6	13	3	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:9265042T>C	ENST00000318602.7	-	3	668	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	121					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCTTAACCATCACTGTGGTC	0.453																																																	0													111	107	108					12																	9265042		1940	4155	6095	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.361A>G	12.37:g.9265042T>C	ENSP00000323929:p.Met121Val		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.M121V	ENST00000318602.7	37	c.361	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	T	3.172	-0.169774	0.06461	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.40225	1.04;1.04	5.77	-11.5	0.00074	.	0.588299	0.15711	N	0.248407	T	0.07188	0.0182	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43114	-0.9411	10	0.44086	T	0.13	.	0.3264	0.00311	0.2613:0.2343:0.2689:0.2355	.	121	P01023	A2MG_HUMAN	V	121;136;121	ENSP00000323929:M121V;ENSP00000385710:M121V	ENSP00000323929:M121V	M	-	1	0	A2M	9156309	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.280000	0.00261	-4.404000	0.00051	-0.321000	0.08615	ATG	A2M	-	superfamily_Cupredoxin		0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	T	NM_000014		9265042	-1	no_errors	ENST00000318602	ensembl	human	known	70_37	missense	SNP	0.001	C	C	9265042	T	C	9265042	3	2	20	1	0	0	0	0	1	0	0	0	4	1435	50	5	4199	5	A2M	12	9265042	Missense_Mutation	SNP	T	TCGA-C5-A1MF-01A-11D-A13W-08	3202362	9265042	124586853	54	2888										
LRP6	4040	genome.wustl.edu	37	chr12	12303967	12303967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	actgaagagcaggaaagtcgTaggagcttaaaaggaagaaa	13	4	0	3			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:12303967T>G	ENST00000261349.4	-	13	2873	c.2797A>C	c.(2797-2799)Acg>Ccg	p.T933P	LRP6_ENST00000543091.1_Missense_Mutation_p.T933P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	933	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGGAAAGTCGTAGGAGCTTAA	0.423																																																	0													66	61	63					12																	12303967		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2797A>C	12.37:g.12303967T>G	ENSP00000261349:p.Thr933Pro		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T933P	ENST00000261349.4	37	c.2797	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297799	0.40694	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95518	-3.73;-3.73	5.32	4.15	0.48705	.	0.102023	0.41823	U	0.000820	D	0.90048	0.6892	N	0.19112	0.55	0.51233	D	0.999915	B;B	0.25486	0.076;0.127	B;B	0.26969	0.062;0.075	D	0.87534	0.2454	10	0.41790	T	0.15	.	11.3602	0.49638	0.0:0.0728:0.0:0.9271	.	933;933	F5H7J9;O75581	.;LRP6_HUMAN	P	933	ENSP00000261349:T933P;ENSP00000442472:T933P	ENSP00000261349:T933P	T	-	1	0	LRP6	12195234	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	3.114000	0.50383	2.009000	0.58944	0.482000	0.46254	ACG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	T			12303967	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	0.997	G	G	12303967	T	G	12303967	3	3	20	1	0	0	0	0	1	0	0	0	8985	1638	57	5	2088	5	LRP6	12	12303967	Missense_Mutation	SNP	T	TCGA-C5-A1MF-01A-11D-A13W-08	3038925	12303967	121547928	55	2889										
CCDC91	55297	genome.wustl.edu	37	chr12	28605543	28605543	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aagatcaagaaaaagtatctCaggaaattcaaaaagctata	6	5	3	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:28605543C>T	ENST00000545336.1	+	14	1476	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	CCDC91_ENST00000306172.5_Nonsense_Mutation_p.Q323*|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Nonsense_Mutation_p.Q317*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.Q317*|CCDC91_ENST00000381259.1_Nonsense_Mutation_p.Q353*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	353	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAAAGTATCTCAGGAAATTCA	0.279																																																	0													47	53	51					12																	28605543		2198	4294	6492	SO:0001587	stop_gained	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1057C>T	12.37:g.28605543C>T	ENSP00000438040:p.Gln353*		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Nonsense_Mutation	SNP	NULL	p.Q353*	ENST00000545336.1	37	c.1057	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021734	0.93462	.	.	ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.	.	.	5.43	2.41	0.29592	.	0.450392	0.21040	N	0.081193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.4308	9.8253	0.40908	0.1448:0.5578:0.2974:0.0	.	.	.	.	X	93;317;353;353;353;353;317;323;52	.	ENSP00000305075:Q323X	Q	+	1	0	CCDC91	28496810	0.974000	0.33945	0.991000	0.47740	0.998000	0.95712	0.982000	0.29539	0.272000	0.22027	0.585000	0.79938	CAG	CCDC91	-	NULL		0.279	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	C	NM_018318		28605543	1	no_errors	ENST00000381259	ensembl	human	known	70_37	nonsense	SNP	0.995	T	T	28605543	C	T	28605543	4	4	20	1	0	0	0	0	0	1	0	0	2875	827	29	1	1095	1	CCDC91	12	28605543	Nonsense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	16301576	28605543	105246352	56	2890										
PLEKHA9	51054	genome.wustl.edu	37	chr12	45568077	45568077	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tcctcagaattggacacaccAgttgtggtcacttcttttgt	8	10	3	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:45568077A>T	ENST00000256692.5	-	0	608					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGACACACCAGTTGTGGTCA	0.398																																																	0													203	199	200					12																	45568077		2203	4300	6503			51054			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568077A>T				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-		0.398	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	A	NR_037144		45568077	-1	no_errors	ENST00000256692	ensembl	human	known	70_37	rna	SNP	0.778	T	T	45568077	A	T	45568077	1	4	20	0	1	0	0	0	0	0	0	0	12087	175	7	5		5	PLEKHA9	12	45568077	RNA	SNP	A	TCGA-C5-A1MF-01A-11D-A13W-08	16962534	45568077	88283818	57	2891										
HDAC7	51564	genome.wustl.edu	37	chr12	48189022	48189022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ggcggggctgcatggggcccGgcggtgggggagcggtggca	25	9	0	0	rs531168904		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:48189022G>A	ENST00000427332.2	-	11	1268	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	HDAC7_ENST00000552960.1_Missense_Mutation_p.P393L|HDAC7_ENST00000080059.7_Missense_Mutation_p.P410L|HDAC7_ENST00000380610.4_Missense_Mutation_p.P427L|HDAC7_ENST00000354334.3_Missense_Mutation_p.P373L			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	371	Poly-Pro.|Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATGGGGCCCGGCGGTGGGGG	0.637																																																	0													54	63	60					12																	48189022		2193	4293	6486	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1112C>T	12.37:g.48189022G>A	ENSP00000404394:p.Pro371Leu		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P427L	ENST00000427332.2	37	c.1280		12	.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958277	0.02267	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.51574	0.71;0.77;0.71;0.7;0.7	3.94	1.54	0.23209	.	0.517370	0.19158	N	0.121265	T	0.11153	0.0272	N	0.00197	-1.87	0.30683	N	0.752185	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.26395	-1.0104	10	0.13108	T	0.6	.	7.1828	0.25782	0.7987:0.0:0.2013:0.0	.	410;393;373	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	L	410;373;393;427;371	ENSP00000080059:P410L;ENSP00000351326:P373L;ENSP00000448532:P393L;ENSP00000369984:P427L;ENSP00000404394:P371L	ENSP00000080059:P410L	P	-	2	0	HDAC7	46475289	1.000000	0.71417	0.953000	0.39169	0.388000	0.30384	2.215000	0.42862	0.205000	0.20568	-0.379000	0.06801	CCG	HDAC7	-	pirsf_Histone_deAcase_II_euk		0.637	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	G			48189022	-1	no_errors	ENST00000380610	ensembl	human	known	70_37	missense	SNP	0.996	A	A	48189022	G	A	48189022	3	1	20	1	0	0	0	0	1	0	0	0	7032	1116	39	2	1810	2	HDAC7	12	48189022	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	2620945	48189022	85662873	58	2892										
DNAJC14	85406	genome.wustl.edu	37	chr12	56222390	56222390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aagtcctgagggaggcaccaCcactgtggtgggctccatac	13	12	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:56222390C>A	ENST00000357606.3	-	3	342	c.53G>T	c.(52-54)gGt>gTt	p.G18V	RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.G18V|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.G18V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	18					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGAGGCACCACCACTGTGGTG	0.587																																																	0													81	79	80					12																	56222390		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.53G>T	12.37:g.56222390C>A	ENSP00000350223:p.Gly18Val		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.G18V	ENST00000357606.3	37	c.53	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279906	0.40294	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445;ENST00000546957	T;T;T	0.54279	0.58;0.58;0.58	5.69	4.79	0.61399	.	0.342937	0.25546	N	0.029937	T	0.37517	0.1006	N	0.19112	0.55	0.52099	D	0.999941	B;B	0.32968	0.241;0.392	B;B	0.34346	0.172;0.18	T	0.36114	-0.9761	10	0.87932	D	0	-8.6044	9.9181	0.41448	0.0:0.9094:0.0:0.0906	.	18;18	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	V	18	ENSP00000350223:G18V;ENSP00000316240:G18V;ENSP00000317500:G18V	ENSP00000316240:G18V	G	-	2	0	DNAJC14	54508657	0.996000	0.38824	0.996000	0.52242	0.687000	0.40016	1.140000	0.31516	2.857000	0.98124	0.650000	0.86243	GGT	DNAJC14	-	NULL		0.587	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56222390	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	0.995	A	A	56222390	C	A	56222390	3	1	20	1	0	0	0	0	1	0	0	0	4643	507	18	4	2079	4	DNAJC14	12	56222390	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	8033368	56222390	77629505	59	2893										
ANKRD52	283373	genome.wustl.edu	37	chr12	56638887	56638887	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	atgcagcagaagggacttacActgcacagtgcaaaggagtg	13	8	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:56638887A>G	ENST00000267116.7	-	22	2613	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	831										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGGACTTACACTGCACAGTG	0.532																																																	0													158	142	147					12																	56638887		2025	4202	6227	SO:0001630	splice_region_variant	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2492+1T>C	12.37:g.56638887A>G			A6NE79|B1Q2K2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V831A	ENST00000267116.7	37	c.2492	CCDS44920.1	12	.	.	.	.	.	.	.	.	.	.	A	8.623	0.891790	0.17613	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.59906	0.23	4.4	3.26	0.37387	Ankyrin repeat-containing domain (4);	0.076168	0.53938	D	0.000048	T	0.27098	0.0664	N	0.01235	-0.94	0.48632	D	0.999685	B	0.27559	0.181	B	0.33799	0.17	T	0.05468	-1.0883	9	.	.	.	.	9.15	0.36957	0.9109:0.0:0.0891:0.0	.	831	Q8NB46	ANR52_HUMAN	A	831	ENSP00000267116:V831A	.	V	-	2	0	ANKRD52	54925154	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	6.113000	0.71553	0.849000	0.35215	-0.371000	0.07208	GTG	ANKRD52	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.532	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	A	NM_173595	Missense_Mutation	56638887	-1	no_errors	ENST00000267116	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56638887	A	G	56638887	5	3	20	1	0	0	0	0	0	0	1	0	678	173	6	5	766	5	ANKRD52	12	56638887	Splice_Site	SNP	A	TCGA-C5-A1MF-01A-11D-A13W-08	416497	56638887	77213008	60	2894										
MED13L	23389	genome.wustl.edu	37	chr12	116675500	116675500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acctacgccatttgattcccGtgagttcagcctggaaaaag	9	11	1	2	rs563883392	byFrequency	TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr12:116675500G>A	ENST00000281928.3	-	2	289	c.83C>T	c.(82-84)aCg>aTg	p.T28M	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	28						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTGATTCCCGTGAGTTCAGC	0.403													G|||	3	0.000599042	0.0023	0	5008	,	,		17088	0		0	False		,,,				2504	0																0													78	77	77					12																	116675500		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.83C>T	12.37:g.116675500G>A	ENSP00000281928:p.Thr28Met		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.T28M	ENST00000281928.3	37	c.83	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882052	0.72294	.	.	ENSG00000123066	ENST00000281928;ENST00000548743	T;T	0.79033	-1.23;-1.23	5.07	5.07	0.68467	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.56097	D	0.000024	D	0.88142	0.6357	M	0.75447	2.3	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.89324	0.3642	10	0.66056	D	0.02	.	18.4543	0.90714	0.0:0.0:1.0:0.0	.	28	Q71F56	MD13L_HUMAN	M	28;18	ENSP00000281928:T28M;ENSP00000448553:T18M	ENSP00000281928:T28M	T	-	2	0	MED13L	115159883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.352000	0.79861	0.561000	0.74099	ACG	MED13L	-	pfam_Mediator_Med13_N_met/fun		0.403	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	G			116675500	-1	no_errors	ENST00000281928	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116675500	G	A	116675500	3	1	20	1	0	0	0	0	1	0	0	0	9454	1145	40	2	6669	2	MED13L	12	116675500	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	60036613	116675500	17176395	61	2895										
USPL1	10208	genome.wustl.edu	37	chr13	31205523	31205523	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	accgtgactggactgtgctcGaaggaggaatctatattctg	12	8	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr13:31205523G>A	ENST00000255304.4	+	4	1122	c.780G>A	c.(778-780)tcG>tcA	p.S260S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	260	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACTGTGCTCGAAGGAGGAAT	0.408																																					Ovarian(60;318 1180 1554 28110 31601)												0													135	135	135					13																	31205523		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.780G>A	13.37:g.31205523G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S260	ENST00000255304.4	37	c.780	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205523	1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31205523	G	A	31205523	2	1	20	1	0	0	0	0	0	0	0	1	17123	1045	37	1		1	USPL1	13	31205523	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		31205523	83964355	62	2896										
RASA3	22821	genome.wustl.edu	37	chr13	114762093	114762093	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aggtaggcggacgggtggtaGacggtgaggcgcttctggtt	20	6	1	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr13:114762093G>C	ENST00000334062.7	-	21	2176	c.2055C>G	c.(2053-2055)gtC>gtG	p.V685V	RASA3_ENST00000389544.4_Silent_p.V653V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	685					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACGGGTGGTAGACGGTGAGGC	0.637																																																	0													144	108	120					13																	114762093		2203	4300	6503	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2055C>G	13.37:g.114762093G>C			A6NL15|F8W6X8|Q8IUY2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.V685	ENST00000334062.7	37	c.2055	CCDS32016.1	13																																																																																			RASA3	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif		0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	G	NM_007368		114762093	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	silent	SNP	1.000	C	C	114762093	G	C	114762093	2	2	20	1	0	0	0	0	0	0	0	1	13092	929	33	1		1	RASA3	13	114762093	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	83556570	114762093	407785	63	2897										
RNASE6	6039	genome.wustl.edu	37	chr14	21250155	21250155	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	caccagagctcaaagcctgtCaacatgactgactgcagact	8	13	2	4			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:21250155C>A	ENST00000304677.2	+	2	590	c.297C>A	c.(295-297)gtC>gtA	p.V99V	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	99					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		CAAAGCCTGTCAACATGACTG	0.502																																																	0													147	141	143					14																	21250155		2203	4300	6503	SO:0001819	synonymous_variant	6039			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"Ribonucleases, RNase A"	10048	protein-coding gene	gene with protein product	"RNase k6"	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.297C>A	14.37:g.21250155C>A				Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.V99	ENST00000304677.2	37	c.297	CCDS9558.1	14																																																																																			RNASE6	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA		0.502	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE6	HGNC	protein_coding	OTTHUMT00000073750.2	C			21250155	1	no_errors	ENST00000304677	ensembl	human	known	70_37	silent	SNP	0.000	A	A	21250155	C	A	21250155	2	1	20	1	0	0	0	0	0	0	0	1	13437	813	29	3		3	RNASE6	14	21250155	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		21250155	86099385	64	2898										
MDGA2	161357	genome.wustl.edu	37	chr14	47314992	47314992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tagttgctaggtcttgttttGcacattctccttctgcaatt	7	9	3	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:47314992G>A	ENST00000399232.2	-	16	3123	c.2759C>T	c.(2758-2760)gCa>gTa	p.A920V	MDGA2_ENST00000439988.3_Missense_Mutation_p.A989V|MDGA2_ENST00000399222.3_Missense_Mutation_p.A122V|MDGA2_ENST00000357362.3_Missense_Mutation_p.A691V|MDGA2_ENST00000426342.1_Missense_Mutation_p.A691V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	920	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTCTTGTTTTGCACATTCTCC	0.313																																																	0													113	111	112					14																	47314992		1886	4110	5996	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2759C>T	14.37:g.47314992G>A	ENSP00000382178:p.Ala920Val		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.A989V	ENST00000399232.2	37	c.2966		14	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190367	0.58017	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.272984	0.25458	U	0.030533	T	0.02418	0.0074	N	0.12961	0.28	0.28929	N	0.891685	B	0.21225	0.053	B	0.33121	0.158	T	0.37056	-0.9722	10	0.48119	T	0.1	.	12.3704	0.55252	0.0826:0.0:0.9174:0.0	.	920	Q7Z553	MDGA2_HUMAN	V	920;691;989;122;691	ENSP00000400011:A920V;ENSP00000405456:A691V;ENSP00000382178:A989V;ENSP00000382168:A122V;ENSP00000349925:A691V	ENSP00000349925:A691V	A	-	2	0	MDGA2	46384742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.587000	0.53957	2.643000	0.89663	0.467000	0.42956	GCA	MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47314992	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47314992	G	A	47314992	3	1	20	1	0	0	0	0	1	0	0	0	9430	1319	46	4	119	4	MDGA2	14	47314992	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	26064837	47314992	60034548	65	2899										
MDGA2	161357	genome.wustl.edu	37	chr14	47351300	47351300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cttcaccaaatttggtgagaGgagtcagtcggacttcataa	10	8	3	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:47351300G>A	ENST00000399232.2	-	11	2520	c.2156C>T	c.(2155-2157)cCt>cTt	p.P719L	MDGA2_ENST00000439988.3_Missense_Mutation_p.P788L|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Missense_Mutation_p.P490L|MDGA2_ENST00000426342.1_Missense_Mutation_p.P490L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	719	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGGTGAGAGGAGTCAGTCG	0.299																																																	0													51	49	50					14																	47351300		1831	4089	5920	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2156C>T	14.37:g.47351300G>A	ENSP00000382178:p.Pro719Leu		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.P788L	ENST00000399232.2	37	c.2363		14	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468852	0.84533	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.89	4.89	0.63831	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000089	T	0.67534	0.2903	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70425	-0.4875	10	0.62326	D	0.03	.	16.9821	0.86331	0.0:0.0:1.0:0.0	.	490;719	F6W3S7;Q7Z553	.;MDGA2_HUMAN	L	719;490;788;490	ENSP00000400011:P719L;ENSP00000405456:P490L;ENSP00000382178:P788L;ENSP00000349925:P490L	ENSP00000349925:P490L	P	-	2	0	MDGA2	46421050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.392000	0.97252	2.437000	0.82529	0.467000	0.42956	CCT	MDGA2	-	superfamily_Fibronectin_type3		0.299	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47351300	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47351300	G	A	47351300	3	1	20	1	0	0	0	0	1	0	0	0	9430	1000	35	4	742	4	MDGA2	14	47351300	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	36308	47351300	59998240	66	2900										
SYNE2	23224	genome.wustl.edu	37	chr14	64491095	64491095	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ttatcagttggctcgtgggtCaggaattcgaattagaaaaa	11	5	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:64491095C>T	ENST00000344113.4	+	39	5970	c.5758C>T	c.(5758-5760)Cag>Tag	p.Q1920*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1920*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q1920*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1920					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCGTGGGTCAGGAATTCGA	0.448																																																	0													92	92	92					14																	64491095		1966	4157	6123	SO:0001587	stop_gained	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5758C>T	14.37:g.64491095C>T	ENSP00000341781:p.Gln1920*		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q1920*	ENST00000344113.4	37	c.5758	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	43	9.992847	0.99313	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.14	4.23	0.50019	.	0.131137	0.34362	N	0.004040	.	.	.	.	.	.	0.44432	D	0.997355	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	9.8218	0.40887	0.1574:0.6908:0.1518:0.0	.	.	.	.	X	1920	.	ENSP00000261678:Q1920X	Q	+	1	0	SYNE2	63560848	0.998000	0.40836	0.370000	0.25965	0.143000	0.21401	2.183000	0.42565	1.107000	0.41642	0.585000	0.79938	CAG	SYNE2	-	NULL		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64491095	1	no_errors	ENST00000358025	ensembl	human	known	70_37	nonsense	SNP	0.477	T	T	64491095	C	T	64491095	4	4	20	1	0	0	0	0	0	1	0	0	15476	827	29	1	5908	1	SYNE2	14	64491095	Nonsense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	17139795	64491095	42858445	67	2901										
CDC42BPB	9578	genome.wustl.edu	37	chr14	103406262	103406262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ttcttgctgttgtcggaggtGtccggcacgttgagaaccgc	14	10	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr14:103406262G>A	ENST00000361246.2	-	33	4902	c.4614C>T	c.(4612-4614)gaC>gaT	p.D1538D	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTCGGAGGTGTCCGGCACGT	0.627																																																	0													138	139	139					14																	103406262		2203	4300	6503	SO:0001819	synonymous_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4614C>T	14.37:g.103406262G>A				Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.D1538	ENST00000361246.2	37	c.4614	CCDS9978.1	14																																																																																			CDC42BPB	-	NULL		0.627	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103406262	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	silent	SNP	1.000	A	A	103406262	G	A	103406262	2	1	20	1	0	0	0	0	0	0	0	1	3078	1368	48	4		4	CDC42BPB	14	103406262	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	38915167	103406262	3943278	68	2902										
RHOV	171177	genome.wustl.edu	37	chr15	41165905	41165905	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tcccgctgtgtcccagagctCaatgcgcaccggagctccat	10	16	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr15:41165905C>G	ENST00000220507.4	-	2	393	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCCCAGAGCTCAATGCGCACC	0.662																																					Pancreas(13;103 483 3593 12123 44457)												0													75	83	80					15																	41165905		2203	4300	6503	SO:0001583	missense	171177			AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"ras homolog gene family, member V"	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.244G>C	15.37:g.41165905C>G	ENSP00000220507:p.Glu82Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E82Q	ENST00000220507.4	37	c.244	CCDS10068.1	15	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346686	0.11126	.	.	ENSG00000104140	ENST00000220507	T	0.76578	-1.03	4.97	4.97	0.65823	Small GTP-binding protein domain (1);	0.051201	0.85682	D	0.000000	T	0.49609	0.1567	N	0.00815	-1.16	0.34381	D	0.693119	B	0.12013	0.005	B	0.11329	0.006	T	0.58352	-0.7651	10	0.36615	T	0.2	.	13.0668	0.59038	0.0:0.698:0.3019:0.0	.	82	Q96L33	RHOV_HUMAN	Q	82	ENSP00000220507:E82Q	ENSP00000220507:E82Q	E	-	1	0	RHOV	38953197	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.713000	0.61895	2.278000	0.76064	0.557000	0.71058	GAG	RHOV	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.662	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOV	HGNC	protein_coding	OTTHUMT00000252442.1	C			41165905	-1	no_errors	ENST00000220507	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41165905	C	G	41165905	3	3	20	1	0	0	0	0	1	0	0	0	13376	835	29	1	474	1	RHOV	15	41165905	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		41165905	61365487	69	2903										
VPS13C	54832	genome.wustl.edu	37	chr15	62283886	62283886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acttactttcaggaatcaatGattcttcgtcctttttctta	4	9	4	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr15:62283886G>T	ENST00000261517.5	-	17	1542	c.1469C>A	c.(1468-1470)tCa>tAa	p.S490*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S447*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S490*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S447*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGGAATCAATGATTCTTCGTC	0.343																																																	0													150	156	154					15																	62283886		2203	4300	6503	SO:0001587	stop_gained	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1469C>A	15.37:g.62283886G>T	ENSP00000261517:p.Ser490*			Nonsense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S490*	ENST00000261517.5	37	c.1469	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	40	8.027543	0.98616	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.78	5.78	0.91487	.	0.471229	0.22940	N	0.053786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2413	0.59997	0.0724:0.0:0.9276:0.0	.	.	.	.	X	447;490;490;490	.	ENSP00000249837:S447X	S	-	2	0	VPS13C	60071178	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	2.733000	0.93635	0.591000	0.81541	TCA	VPS13C	-	NULL		0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62283886	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	nonsense	SNP	0.988	T	T	62283886	G	T	62283886	4	4	20	1	0	0	0	0	0	1	0	0	17222	1294	45	3	10096	3	VPS13C	15	62283886	Nonsense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	21117981	62283886	40247506	70	2904										
AKAP13	11214	genome.wustl.edu	37	chr15	86228062	86228062	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acaaaagtcagtcgtacattCagctacatcaagaataaaat	5	8	3	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr15:86228062C>T	ENST00000394518.2	+	16	5342	c.5247C>T	c.(5245-5247)ttC>ttT	p.F1749F	AKAP13_ENST00000361243.2_Silent_p.F1753F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1749					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTCGTACATTCAGCTACATCA	0.408																																					Melanoma(94;603 1453 3280 32295 32951)												0													137	124	128					15																	86228062		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5247C>T	15.37:g.86228062C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.F1753	ENST00000394518.2	37	c.5259	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.408	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86228062	1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	1.000	T	T	86228062	C	T	86228062	2	4	20	1	0	0	0	0	0	0	0	1	449	825	29	1		1	AKAP13	15	86228062	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	23944176	86228062	16303330	71	2905										
PLCG2	5336	genome.wustl.edu	37	chr16	81927367	81927367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gtccccagaagcttacatccGctgcctgcgcatgggctgtc	11	15	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr16:81927367G>A	ENST00000359376.3	+	12	1254	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	347	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTTACATCCGCTGCCTGCGC	0.587																																																	0													67	69	69					16																	81927367		2183	4287	6470	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1040G>A	16.37:g.81927367G>A	ENSP00000352336:p.Arg347His		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.R347H	ENST00000359376.3	37	c.1040	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025819	0.93518	.	.	ENSG00000197943	ENST00000359376	T	0.64085	-0.08	3.71	3.71	0.42584	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.146689	0.51477	D	0.000092	T	0.77205	0.4096	M	0.85859	2.78	0.80722	D	1	D;D	0.54047	0.964;0.961	P;P	0.56216	0.456;0.794	D	0.83576	0.0115	10	0.87932	D	0	.	16.357	0.83239	0.0:0.0:1.0:0.0	.	214;347	B4E3H3;P16885	.;PLCG2_HUMAN	H	347	ENSP00000352336:R347H	ENSP00000352336:R347H	R	+	2	0	PLCG2	80484868	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	9.618000	0.98365	2.034000	0.60081	0.467000	0.42956	CGC	PLCG2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.587	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	G			81927367	1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81927367	G	A	81927367	3	1	20	1	0	0	0	0	1	0	0	0	12060	1087	38	2	1082	2	PLCG2	16	81927367	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		81927367	8427386	72	2906										
HSF5	124535	genome.wustl.edu	37	chr17	56540518	56540518	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acaggctccacctttaccatCtccaatttaggggaggaatg	9	11	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr17:56540518C>T	ENST00000323777.3	-	4	1276	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	389					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTTACCATCTCCAATTTAG	0.428																																																	0													101	95	97					17																	56540518		2203	4300	6503	SO:0001819	synonymous_variant	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1167G>A	17.37:g.56540518C>T			Q08EH7|Q8N7V2	Silent	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.E389	ENST00000323777.3	37	c.1167	CCDS32690.1	17																																																																																			HSF5	-	NULL		0.428	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	C	XM_064190		56540518	-1	no_errors	ENST00000323777	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56540518	C	T	56540518	2	4	20	1	0	0	0	0	0	0	0	1	7419	912	32	1		1	HSF5	17	56540518	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		56540518	24654692	73	2907										
TBXA2R	6915	genome.wustl.edu	37	chr19	3595827	3595827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tccaggatctggttccaggtGgccacgcgcaagtagatgag	14	10	1	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:3595827G>A	ENST00000375190.4	-	3	1284	c.891C>T	c.(889-891)gcC>gcT	p.A297A	TBXA2R_ENST00000589966.1_Missense_Mutation_p.H168Y|TBXA2R_ENST00000411851.3_Silent_p.A297A|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	297					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GGTTCCAGGTGGCCACGCGCA	0.677																																																	0													24	29	28					19																	3595827		2187	4279	6466	SO:0001819	synonymous_variant	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.891C>T	19.37:g.3595827G>A			O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt	p.H168Y	ENST00000375190.4	37	c.502	CCDS42467.1	19																																																																																			TBXA2R	-	NULL		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	G			3595827	-1	no_errors	ENST00000589966	ensembl	human	putative	70_37	missense	SNP	1.000	A	A	3595827	G	A	3595827	2	1	20	1	0	0	0	0	0	0	0	1	15693	1335	47	4		4	TBXA2R	19	3595827	Silent	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08		3595827	55533156	74	2908										
MUC16	94025	genome.wustl.edu	37	chr19	9061666	9061666	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cttcactgggccaagggtgaGaagtgcagtcacaggatgag	15	8	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:9061666G>C	ENST00000397910.4	-	3	25983	c.25780C>G	c.(25780-25782)Ctc>Gtc	p.L8594V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8596	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAAGGGTGAGAAGTGCAGTC	0.488																																																	0													109	102	104					19																	9061666		2070	4215	6285	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25780C>G	19.37:g.9061666G>C	ENSP00000381008:p.Leu8594Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L8594V	ENST00000397910.4	37	c.25780	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.400	-0.122453	0.06795	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	2.4	-1.18	0.09617	.	.	.	.	.	T	0.21062	0.0507	L	0.29908	0.895	.	.	.	P	0.48694	0.914	P	0.50192	0.634	T	0.22941	-1.0202	8	0.87932	D	0	.	2.7486	0.05273	0.3397:0.2528:0.4075:0.0	.	8594	B5ME49	.	V	8594	ENSP00000381008:L8594V	ENSP00000381008:L8594V	L	-	1	0	MUC16	8922666	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.944000	0.01538	-0.193000	0.10415	0.450000	0.29827	CTC	MUC16	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9061666	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9061666	G	C	9061666	3	2	20	1	0	0	0	0	1	0	0	0	9996	942	33	1	18071	1	MUC16	19	9061666	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	5465839	9061666	50067317	75	2909										
TYK2	7297	genome.wustl.edu	37	chr19	10468442	10468442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agggtctcctagacatacctCggagggactgcggctctgca	13	12	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:10468442C>T	ENST00000525621.1	-	17	2945	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	TYK2_ENST00000529370.1_Missense_Mutation_p.E822K|TYK2_ENST00000264818.6_Missense_Mutation_p.E822K|TYK2_ENST00000524462.1_Missense_Mutation_p.E637K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	822	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATACCTCGGAGGGACTG	0.617																																																	0													19	19	19					19																	10468442		2202	4296	6498	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2464G>A	19.37:g.10468442C>T	ENSP00000431885:p.Glu822Lys		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E822K	ENST00000525621.1	37	c.2464	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469106	0.63625	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.76	4.76	0.60689	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000082	D	0.89518	0.6738	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.974	D	0.87603	0.2498	10	0.28530	T	0.3	-33.425	15.3023	0.73962	0.0:1.0:0.0:0.0	.	822;822	E9PPF2;P29597	.;TYK2_HUMAN	K	637;822;822;569;822	ENSP00000433203:E637K;ENSP00000431885:E822K;ENSP00000264818:E822K;ENSP00000432728:E822K	ENSP00000264818:E822K	E	-	1	0	TYK2	10329442	1.000000	0.71417	0.944000	0.38274	0.066000	0.16364	6.920000	0.75799	2.465000	0.83290	0.655000	0.94253	GAG	TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10468442	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.998	T	T	10468442	C	T	10468442	3	4	20	1	0	0	0	0	1	0	0	0	16841	893	31	1	1135	1	TYK2	19	10468442	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	1406776	10468442	48660541	76	2910										
S1PR5	53637	genome.wustl.edu	37	chr19	10625529	10625529	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	accaacaacacggctagattCtctagcacgatgaaggcgca	9	12	1	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:10625529C>T	ENST00000439028.3	-	2	284	c.159G>A	c.(157-159)gaG>gaA	p.E53E	S1PR5_ENST00000333430.4_Silent_p.E53E	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	53					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.E53D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CGGCTAGATTCTCTAGCACGA	0.682																																																	1	Substitution - Missense(1)	large_intestine(1)											38	31	33					19																	10625529		2189	4296	6485	SO:0001819	synonymous_variant	53637			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.159G>A	19.37:g.10625529C>T			Q6NW11	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.E53	ENST00000439028.3	37	c.159	CCDS12240.1	19																																																																																			S1PR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.682	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	C	NM_030760		10625529	-1	no_errors	ENST00000333430	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10625529	C	T	10625529	2	4	20	1	0	0	0	0	0	0	0	1	13827	912	32	1		1	S1PR5	19	10625529	Silent	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	157087	10625529	48503454	77	2911										
ZNF491	126069	genome.wustl.edu	37	chr19	11917006	11917006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agccatataaacataaacaaCgtaggaaagccttgagccat	7	9	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:11917006C>T	ENST00000323169.5	+	3	569	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ACATAAACAACGTAGGAAAGC	0.383																																																	0													48	50	50					19																	11917006		2203	4299	6502	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.238C>T	19.37:g.11917006C>T	ENSP00000313443:p.Arg80Cys		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R80C	ENST00000323169.5	37	c.238	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	c	0	-2.598156	0.00125	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.09163	3.01;3.63	0.904	-0.254	0.12992	.	.	.	.	.	T	0.01156	0.0038	N	0.00028	-2.63	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.44190	-0.9344	9	0.02654	T	1	.	2.8743	0.05626	0.0:0.3497:0.0:0.6503	.	80	Q8N8L2	ZN491_HUMAN	C	80	ENSP00000313443:R80C;ENSP00000392176:R80C	ENSP00000313443:R80C	R	+	1	0	ZNF491	11778006	0.971000	0.33674	0.010000	0.14722	0.011000	0.07611	1.794000	0.38774	-0.130000	0.11599	-0.438000	0.05819	CGT	ZNF491	-	NULL		0.383	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	C	NM_152356		11917006	1	no_errors	ENST00000323169	ensembl	human	known	70_37	missense	SNP	0.242	T	T	11917006	C	T	11917006	3	4	20	1	0	0	0	0	1	0	0	0	17972	536	19	2	240	2	ZNF491	19	11917006	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	1291477	11917006	47211977	78	2912										
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56704223	56704223	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	cagccacagatggcacagctCagtgagtttcctcagagcct	10	13	2	3			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:56704223C>T	ENST00000586855.2	-	2	512	c.199G>A	c.(199-201)Gag>Aag	p.E67K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E67K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	67	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGCACAGCTCAGTGAGTTTC	0.557																																																	0													31	31	31					19																	56704223		2202	4296	6498	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.199G>A	19.37:g.56704223C>T	ENSP00000466072:p.Glu67Lys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E67K	ENST00000586855.2	37	c.199	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943564	0.53079	.	.	ENSG00000197213	ENST00000358992	T	0.07216	3.21	2.48	1.33	0.21861	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.24275	0.0588	M	0.78637	2.42	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.03514	-1.1029	9	0.52906	T	0.07	.	6.7627	0.23550	0.0:0.7037:0.2963:0.0	.	67	A6NJL1	ZSA5B_HUMAN	K	67	ENSP00000351883:E67K	ENSP00000351883:E67K	E	-	1	0	ZSCAN5B	61396035	0.304000	0.24472	0.006000	0.13384	0.373000	0.29922	0.651000	0.24873	0.532000	0.28657	0.313000	0.20887	GAG	ZSCAN5B	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.557	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56704223	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	missense	SNP	0.006	T	T	56704223	C	T	56704223	3	4	20	1	0	0	0	0	1	0	0	0	18269	835	29	1	1304	1	ZSCAN5B	19	56704223	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	44787217	56704223	2424760	79	2913										
ZSCAN5A	79149	genome.wustl.edu	37	chr19	56733683	56733683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ggtccttcccctcctttgctCtcaccagatctgctggaaga	8	15	2	2			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr19:56733683C>G	ENST00000587340.1	-	7	1447	c.752G>C	c.(751-753)aGa>aCa	p.R251T	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R105T|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R134T|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R251T|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R250T			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	251					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCCTTTGCTCTCACCAGATC	0.483																																																	0													77	77	77					19																	56733683		2203	4300	6503	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.752G>C	19.37:g.56733683C>G	ENSP00000467631:p.Arg251Thr		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R251T	ENST00000587340.1	37	c.752	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	7.004	0.555408	0.13436	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06218	3.34;3.33	1.94	-0.279	0.12890	.	.	.	.	.	T	0.07098	0.0180	M	0.73598	2.24	0.09310	N	1	P;P	0.42827	0.791;0.534	B;B	0.35470	0.203;0.203	T	0.23976	-1.0173	9	0.54805	T	0.06	.	4.0463	0.09774	0.0:0.5957:0.0:0.4043	.	134;251	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	T	251;134	ENSP00000375593:R251T;ENSP00000254165:R134T	ENSP00000254165:R134T	R	-	2	0	ZSCAN5A	61425495	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.292000	0.02772	-0.009000	0.14296	0.561000	0.74099	AGA	ZSCAN5A	-	NULL		0.483	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	C	NM_024303		56733683	-1	no_errors	ENST00000391713	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56733683	C	G	56733683	3	3	20	1	0	0	0	0	1	0	0	0	18268	913	32	1	742	1	ZSCAN5A	19	56733683	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	29460	56733683	2395300	80	2914										
DIDO1	11083	genome.wustl.edu	37	chr20	61527728	61527728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gttttctgtcatgattaagtCatcgctgtcattgactctga	8	8	5	3			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr20:61527728C>G	ENST00000266070.4	-	8	2396	c.2071G>C	c.(2071-2073)Gac>Cac	p.D691H	DIDO1_ENST00000395340.1_Missense_Mutation_p.D691H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D691H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D691H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	691	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATGATTAAGTCATCGCTGTCA	0.358																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													88	81	84					20																	61527728		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2071G>C	20.37:g.61527728C>G	ENSP00000266070:p.Asp691His		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.D691H	ENST00000266070.4	37	c.2071	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489070	0.84962	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.18502	2.5;2.5;2.21;2.21	6.07	6.07	0.98685	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.45606	D	0.000354	T	0.44829	0.1312	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.15122	-1.0448	10	0.72032	D	0.01	-56.0338	20.6439	0.99570	0.0:1.0:0.0:0.0	.	691;691	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	H	691	ENSP00000266070:D691H;ENSP00000378752:D691H;ENSP00000378749:D691H;ENSP00000378744:D691H	ENSP00000266070:D691H	D	-	1	0	DIDO1	60998173	1.000000	0.71417	0.967000	0.41034	0.965000	0.64279	7.708000	0.84633	2.884000	0.98904	0.655000	0.94253	GAC	DIDO1	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M		0.358	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61527728	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61527728	C	G	61527728	3	3	20	1	0	0	0	0	1	0	0	0	4532	826	29	1	4716	1	DIDO1	20	61527728	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		61527728	1497792	81	2915										
GRIK1	2897	genome.wustl.edu	37	chr21	30909691	30909691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tcccagttcttccatgatagCgttgaaagagagacactagg	10	9	1	4	rs151335244		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr21:30909691C>T	ENST00000389125.3	-	16	2702	c.2578G>A	c.(2578-2580)Gct>Act	p.A860T	GRIK1_ENST00000535441.1_Missense_Mutation_p.A877T|GRIK1_ENST00000399913.1_Missense_Mutation_p.A875T|GRIK1_ENST00000399914.1_Missense_Mutation_p.A889T|GRIK1_ENST00000327783.4_Missense_Mutation_p.A904T	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCATGATAGCGTTGAAAGAG	0.398																																																	0													50	49	50					21																	30909691		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2578G>A	21.37:g.30909691C>T	ENSP00000373777:p.Ala860Thr		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A877T	ENST00000389125.3	37	c.2629	CCDS33530.1	21	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042706	0.55003	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508	T;T;T;T;T	0.13778	2.56;2.71;2.69;2.57;2.69	4.54	4.54	0.55810	.	1.808850	0.02340	N	0.074832	T	0.18593	0.0446	L	0.43152	1.355	0.80722	D	1	B;B;B	0.27656	0.184;0.087;0.141	B;B;B	0.20767	0.029;0.014;0.031	T	0.33445	-0.9868	10	0.23891	T	0.37	.	18.1901	0.89804	0.0:1.0:0.0:0.0	.	889;875;860	E7EPY9;E9PD61;P39086-2	.;.;.	T	904;860;875;889;877;736	ENSP00000327687:A904T;ENSP00000373777:A860T;ENSP00000382797:A875T;ENSP00000382798:A889T;ENSP00000446326:A877T	ENSP00000327687:A904T	A	-	1	0	GRIK1	29831562	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.235000	0.65348	2.810000	0.96702	0.585000	0.79938	GCT	GRIK1	-	NULL		0.398	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171978.1	C			30909691	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30909691	C	T	30909691	3	4	20	1	0	0	0	0	1	0	0	0	6793	768	27	2	143	2	GRIK1	21	30909691	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		30909691	17220204	82	2916										
DGCR2	9993	genome.wustl.edu	37	chr22	19036055	19036055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	agccacacacatctcaggctCccctccatggcaggtgcagc	9	17	1	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chr22:19036055C>T	ENST00000263196.7	-	7	1151	c.904G>A	c.(904-906)Gag>Aag	p.E302K	DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.E261K	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	302	VWFC.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ATCTCAGGCTCCCCTCCATGG	0.572																																																	0													292	287	289					22																	19036055		2203	4300	6503	SO:0001583	missense	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.904G>A	22.37:g.19036055C>T	ENSP00000263196:p.Glu302Lys		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.E302K	ENST00000263196.7	37	c.904	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.607320	0.96626	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000447928	T;D	0.97209	0.84;-4.29	5.8	5.8	0.92144	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	L	0.37630	1.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.97431	1.0015	10	0.42905	T	0.14	.	19.6735	0.95921	0.0:1.0:0.0:0.0	.	258;302	B7Z3T5;P98153	.;IDD_HUMAN	K	261;302;302	ENSP00000440062:E261K;ENSP00000263196:E302K	ENSP00000263196:E302K	E	-	1	0	DGCR2	17416055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.735000	0.93741	0.655000	0.94253	GAG	DGCR2	-	smart_VWF_C		0.572	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	C	NM_005137		19036055	-1	no_errors	ENST00000263196	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19036055	C	T	19036055	3	4	20	1	0	0	0	0	1	0	0	0	4471	864	30	1	764	1	DGCR2	22	19036055	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		19036055	32268511	83	2917										
DMD	1756	genome.wustl.edu	37	chrX	32509432	32509432	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	acttttaattgctgttggctCtgatggggtggtgggttgga	16	4	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:32509432C>T	ENST00000357033.4	-	20	2790	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	DMD_ENST00000378677.2_Missense_Mutation_p.E858K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	862					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGTTGGCTCTGATGGGGTG	0.378																																																	0													113	97	103					X																	32509432		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2584G>A	X.37:g.32509432C>T	ENSP00000354923:p.Glu862Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.E862K	ENST00000357033.4	37	c.2584	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	17.40	3.378953	0.61735	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35421	1.31;1.31	5.03	5.03	0.67393	.	0.405831	0.17301	U	0.179255	T	0.23370	0.0565	L	0.27053	0.805	0.80722	D	1	B;P;B	0.43231	0.007;0.801;0.009	B;B;B	0.40741	0.015;0.339;0.025	T	0.02301	-1.1180	10	0.11485	T	0.65	.	8.7925	0.34859	0.0:0.8264:0.0:0.1736	.	854;862;858	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	K	854;858;862;862;739	ENSP00000367948:E858K;ENSP00000354923:E862K	ENSP00000354923:E862K	E	-	1	0	DMD	32419353	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.077000	0.50089	2.220000	0.72140	0.506000	0.49869	GAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32509432	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.998	T	T	32509432	C	T	32509432	3	4	20	1	0	0	0	0	1	0	0	0	4590	922	32	1	8956	1	DMD	23	32509432	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08		32509432	122761128	84	2918										
ERCC6L	54821	genome.wustl.edu	37	chrX	71427938	71427938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	tattttatgtgcttcatcgaGgatgacatagtcccacacaa	7	9	1	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:71427938G>A	ENST00000334463.3	-	2	814	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.L104F	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	227	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GCTTCATCGAGGATGACATAG	0.413																																																	0													108	100	103					X																	71427938		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.679C>T	X.37:g.71427938G>A	ENSP00000334675:p.Leu227Phe		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L227F	ENST00000334463.3	37	c.679	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219265	0.58560	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.94184	-3.37;-3.37	5.73	4.86	0.63082	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94909	0.8354	M	0.78344	2.41	0.80722	D	1	D	0.59357	0.985	P	0.56042	0.79	D	0.94612	0.7805	9	0.56958	D	0.05	-13.4333	10.6115	0.45425	0.0937:0.0:0.9063:0.0	.	227	Q2NKX8	ERC6L_HUMAN	F	104;227	ENSP00000362761:L104F;ENSP00000334675:L227F	ENSP00000334675:L227F	L	-	1	0	ERCC6L	71344663	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.653000	0.61462	2.403000	0.81681	0.600000	0.82982	CTC	ERCC6L	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.413	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	G	NM_017669		71427938	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71427938	G	A	71427938	3	1	20	1	0	0	0	0	1	0	0	0	5230	1000	35	4	3077	4	ERCC6L	23	71427938	Missense_Mutation	SNP	G	TCGA-C5-A1MF-01A-11D-A13W-08	38918506	71427938	83842622	85	2919										
THOC2	57187	genome.wustl.edu	37	chrX	122745309	122745309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	attgtttcttctcttcctttCctcctgaactgtcccgtttc	4	14	2	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:122745309C>T	ENST00000245838.8	-	37	4767	c.4736G>A	c.(4735-4737)gGa>gAa	p.G1579E	THOC2_ENST00000355725.4_Missense_Mutation_p.G1579E|THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1464E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1579	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCTTCCTTTCCTCCTGAACT	0.353																																																	0													172	159	163					X																	122745309		1851	4073	5924	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4736G>A	X.37:g.122745309C>T	ENSP00000245838:p.Gly1579Glu		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.G1579E	ENST00000245838.8	37	c.4736	CCDS43988.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.184490|2.184490	0.38609|0.38609	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692|ENST00000245838;ENST00000455053;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.086593	.|0.48767	.|N	.|0.000179	T|T	0.48519|0.48519	0.1504|0.1504	L|L	0.32530|0.32530	0.975|0.975	0.53005|0.53005	D|D	0.999968|0.999968	.|D	.|0.54047	.|0.964	.|P	.|0.47118	.|0.538	T|T	0.34750|0.34750	-0.9816|-0.9816	5|9	.|0.12430	.|T	.|0.62	-3.2159|-3.2159	18.587|18.587	0.91194|0.91194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1579	.|Q8NI27	.|THOC2_HUMAN	K|E	175;374|1579;72;1579;168;1464	.|.	.|ENSP00000245838:G1579E	E|G	-|-	1|2	0|0	THOC2|THOC2	122572990|122572990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.763000|3.763000	0.55257|0.55257	2.433000|2.433000	0.82419|0.82419	0.544000|0.544000	0.68410|0.68410	GAA|GGA	THOC2	-	NULL		0.353	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	C			122745309	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122745309	C	T	122745309	3	4	20	1	0	0	0	0	1	0	0	0	15895	855	30	1	53	1	THOC2	23	122745309	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	51317371	122745309	32525251	86	2920										
ODZ1	10178	genome.wustl.edu	37	chrX	123838977	123838977	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	aaaggtaaaggcaggtcgggAaaaggtgcttcgaggaagag	17	4	0	1			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:123838977A>T	ENST00000371130.3	-	5	964	c.901T>A	c.(901-903)Tcc>Acc	p.S301T	TENM1_ENST00000422452.2_Missense_Mutation_p.S301T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	301	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCAGGTCGGGAAAAGGTGCTT	0.527																																																	0													160	147	151					X																	123838977		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.901T>A	X.37:g.123838977A>T	ENSP00000360171:p.Ser301Thr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S301T	ENST00000371130.3	37	c.901	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536439	0.65085	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.40225	1.04;1.04	5.69	5.69	0.88448	Teneurin intracellular, N-terminal (2);	0.067231	0.64402	D	0.000008	T	0.35998	0.0951	L	0.38953	1.18	0.47308	D	0.99938	B;B;B	0.33841	0.025;0.248;0.428	B;B;B	0.32762	0.044;0.079;0.152	T	0.21586	-1.0241	10	0.56958	D	0.05	.	14.9176	0.70810	1.0:0.0:0.0:0.0	.	301;301;301	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	301	ENSP00000360171:S301T;ENSP00000403954:S301T	ENSP00000360171:S301T	S	-	1	0	ODZ1	123666658	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.423000	0.52756	1.905000	0.55150	0.425000	0.28330	TCC	TENM1	-	pfam_Ten_N		0.527	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	A	NM_014253		123838977	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123838977	A	T	123838977	3	4	20	1	0	0	0	0	1	0	0	0	10858	246	9	5	7409	5	ODZ1	23	123838977	Missense_Mutation	SNP	A	TCGA-C5-A1MF-01A-11D-A13W-08	1093668	123838977	31431583	87	2921										
BCORL1	63035	genome.wustl.edu	37	chrX	129155081	129155081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	gcaccggaagccgacaaagcCggagtcccagtctccaggaa	12	14	1	0	rs368883442		TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:129155081C>T	ENST00000218147.7	+	5	3760	c.3563C>T	c.(3562-3564)cCg>cTg	p.P1188L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P1188L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1188L|BCORL1_ENST00000540052.1_Missense_Mutation_p.P1188L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1188					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGACAAAGCCGGAGTCCCAG	0.632																																																	0								C	LEU/PRO	1,3833		0,1,1631,570	36	37	37		3563	6.2	1	X		37	0,6727		0,0,2428,1871	no	missense	BCORL1	NM_021946.4	98	0,1,4059,2441	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	1188/1712	129155081	1,10560	2202	4299	6501	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3563C>T	X.37:g.129155081C>T	ENSP00000218147:p.Pro1188Leu		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P1188L	ENST00000218147.7	37	c.3563	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725189	0.89298	2.61E-4	0.0	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.46063	0.88;1.28;1.03;0.88;1.37	6.17	6.17	0.99709	.	0.000000	0.36374	N	0.002632	T	0.45316	0.1336	N	0.24115	0.695	0.42169	D	0.991633	D;D	0.65815	0.995;0.984	P;B	0.54312	0.748;0.288	T	0.44097	-0.9350	10	0.62326	D	0.03	-7.5129	16.7455	0.85470	0.0:1.0:0.0:0.0	.	1188;1188	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	1188;1188;1188;1188;788	ENSP00000218147:P1188L;ENSP00000307541:P1188L;ENSP00000352253:P1188L;ENSP00000437775:P1188L;ENSP00000399483:P788L	ENSP00000218147:P1188L	P	+	2	0	BCORL1	128982762	0.989000	0.36119	0.953000	0.39169	0.994000	0.84299	3.043000	0.49823	2.618000	0.88619	0.600000	0.82982	CCG	BCORL1	-	NULL		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129155081	1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	0.904	T	T	129155081	C	T	129155081	3	4	20	1	0	0	0	0	1	0	0	0	1388	652	23	2	3577	2	BCORL1	23	129155081	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	5316104	129155081	26115479	88	2922										
FLNA	2316	genome.wustl.edu	37	chrX	153582588	153582588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.295454545454545	26	8.18776969280315e-07	2.88384689455946	6.900633640553	1.82280888618381	1	1	17	ctcgctgggtgcataccgcaCggtcacggtgccgtctttgt	13	13	2	0			TCGA-C5-A1MF-01A-11D-A13W-08	TCGA-C5-A1MF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e41f57b5-3eb4-457e-82f6-714267f4f393	2246aadd-79f9-4671-8a35-621949e4b23e	g.chrX:153582588C>T	ENST00000369850.3	-	34	5724	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	FLNA_ENST00000344736.4_Missense_Mutation_p.V1790M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1822M|FLNA_ENST00000422373.1_Missense_Mutation_p.V1822M|FLNA_ENST00000369856.3_Missense_Mutation_p.V21M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1830					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATACCGCACGGTCACGGTG	0.652																																																	0													44	46	45					X																	153582588		2188	4250	6438	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5488G>A	X.37:g.153582588C>T	ENSP00000358866:p.Val1830Met		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V1830M	ENST00000369850.3	37	c.5488	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427503	0.43122	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;T;D	0.92299	-3.01;-3.01;-3.01;0.26;-3.01	5.41	5.41	0.78517	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.96525	0.8866	M	0.85542	2.76	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.989;0.976	D	0.97148	0.9829	10	0.87932	D	0	.	18.3027	0.90169	0.0:1.0:0.0:0.0	.	21;1822;1830	E9PHF0;P21333-2;P21333	.;.;FLNA_HUMAN	M	1822;1803;1822;1830;21;1790	ENSP00000353467:V1822M;ENSP00000416926:V1822M;ENSP00000358866:V1830M;ENSP00000358872:V21M;ENSP00000358863:V1790M	ENSP00000358863:V1790M	V	-	1	0	FLNA	153235782	1.000000	0.71417	0.863000	0.33907	0.026000	0.11368	5.971000	0.70440	2.261000	0.74972	0.529000	0.55759	GTG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153582588	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	0.999	T	T	153582588	C	T	153582588	3	4	20	1	0	0	0	0	1	0	0	0	5951	536	19	2	2515	2	FLNA	23	153582588	Missense_Mutation	SNP	C	TCGA-C5-A1MF-01A-11D-A13W-08	24427507	153582588	1687972	89	2923										
ESPN	83715	genome.wustl.edu	37	chr1	6504554	6504554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccttcagagcgtggagcaccGcgtgctttcccgggatccat	12	14	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:6504554G>A	ENST00000377828.1	+	6	1172	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	335					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGAGCACCGCGTGCTTTCC	0.602																																																	0													70	54	60					1																	6504554		2203	4300	6503	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1004G>A	1.37:g.6504554G>A	ENSP00000367059:p.Arg335His		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.R335H	ENST00000377828.1	37	c.1004	CCDS70.1	1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673980	0.88445	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	D;D	0.93366	-3.21;-3.21	3.62	3.62	0.41486	Ankyrin repeat-containing domain (1);	0.000000	0.53938	U	0.000045	D	0.93828	0.8026	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.94190	0.7440	10	0.59425	D	0.04	-7.6877	14.0147	0.64517	0.0:0.0:1.0:0.0	.	335	B1AK53	ESPN_HUMAN	H	335;120	ENSP00000367059:R335H;ENSP00000401793:R120H	ENSP00000367059:R335H	R	+	2	0	ESPN	6427141	1.000000	0.71417	0.957000	0.39632	0.771000	0.43674	6.956000	0.76013	1.866000	0.54105	0.486000	0.48141	CGC	ESPN	-	superfamily_Ankyrin_rpt-contain_dom		0.602	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	G	NM_031475		6504554	1	no_errors	ENST00000377828	ensembl	human	known	70_37	missense	SNP	0.997	A	A	6504554	G	A	6504554	3	1	21	1	0	0	0	0	1	0	0	0	5266	1087	38	2	1026	2	ESPN	1	6504554	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		6504554	242746067	1	2924										
PTCHD2	57540	genome.wustl.edu	37	chr1	11561451	11561451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcccagtttggatcctggggGcggaaccggcgcgatttggc	16	11	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:11561451G>A	ENST00000294484.6	+	2	540	c.402G>A	c.(400-402)ggG>ggA	p.G134G	PTCHD2_ENST00000389575.3_Silent_p.G134G	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	134					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GATCCTGGGGGCGGAACCGGC	0.602																																																	0													38	40	39					1																	11561451		2040	4171	6211	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.402G>A	1.37:g.11561451G>A			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.G134	ENST00000294484.6	37	c.402	CCDS41247.1	1																																																																																			PTCHD2	-	NULL		0.602	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	G	XM_052561		11561451	1	no_errors	ENST00000294484	ensembl	human	known	70_37	silent	SNP	0.995	A	A	11561451	G	A	11561451	2	1	21	1	0	0	0	0	0	0	0	1	12760	1190	42	4		4	PTCHD2	1	11561451	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5056897	11561451	237689170	2	2925										
IGSF21	84966	genome.wustl.edu	37	chr1	18703404	18703404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtgctggagcgggttcccgcCgagctcaatggctccatgta	14	12	1	0	rs145075430		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:18703404C>T	ENST00000251296.1	+	8	1595	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	404	Ig-like 2.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGTTCCCGCCGAGCTCAATG	0.662																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	43	42	43		1212	-5.9	0.5	1	dbSNP_134	43	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IGSF21	NM_032880.4		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		404/468	18703404	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1212C>T	1.37:g.18703404C>T			Q8NBR8	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.A404	ENST00000251296.1	37	c.1212	CCDS184.1	1																																																																																			IGSF21	-	smart_Ig_sub,pfscan_Ig-like		0.662	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF21	HGNC	protein_coding	OTTHUMT00000006924.1	C	NM_032880		18703404	1	no_errors	ENST00000251296	ensembl	human	known	70_37	silent	SNP	0.171	T	T	18703404	C	T	18703404	2	4	21	1	0	0	0	0	0	0	0	1	7619	639	23	2		2	IGSF21	1	18703404	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	7141953	18703404	230547217	3	2926										
HSPG2	3339	genome.wustl.edu	37	chr1	22168565	22168565	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccgtcatggatgaggcacttGaagctggcatcctggccctg	13	12	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:22168565G>A	ENST00000374695.3	-	69	9202	c.9123C>T	c.(9121-9123)ttC>ttT	p.F3041F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3041	Ig-like C2-type 16.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGAGGCACTTGAAGCTGGCAT	0.677																																																	0													37	36	37					1																	22168565		2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9123C>T	1.37:g.22168565G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.F3041	ENST00000374695.3	37	c.9123	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22168565	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22168565	G	A	22168565	2	1	21	1	0	0	0	0	0	0	0	1	7450	1281	45	1		1	HSPG2	1	22168565	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	3465161	22168565	227082056	4	2927										
RCAN3	11123	genome.wustl.edu	37	chr1	24857861	24857861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagacttcaatgggcagaagCtaaagctatattttgcacag	9	8	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:24857861C>G	ENST00000374395.4	+	3	662	c.349C>G	c.(349-351)Cta>Gta	p.L117V	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Missense_Mutation_p.L117V|RN7SL857P_ENST00000580228.1_RNA|RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.L117V	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	117					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGGGCAGAAGCTAAAGCTATA	0.383																																																	0													52	54	53					1																	24857861		2203	4300	6503	SO:0001583	missense	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.349C>G	1.37:g.24857861C>G	ENSP00000363516:p.Leu117Val		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.L117V	ENST00000374395.4	37	c.349	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999540	0.74818	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000412742	T;T	0.50277	0.75;0.84	5.84	4.93	0.64822	Nucleotide-binding, alpha-beta plait (1);	0.073338	0.64402	D	0.000019	T	0.65647	0.2711	M	0.75447	2.3	0.80722	D	1	P;D;D	0.76494	0.711;0.998;0.999	P;D;D	0.91635	0.451;0.999;0.999	T	0.65257	-0.6212	10	0.35671	T	0.21	-26.7191	11.2097	0.48790	0.0:0.8598:0.0:0.1402	.	117;117;117	E7ENV1;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	V	117	ENSP00000363516:L117V;ENSP00000414447:L117V	ENSP00000363516:L117V	L	+	1	2	RCAN3	24730448	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.468000	0.60162	1.461000	0.47929	0.650000	0.86243	CTA	RCAN3	-	pfam_Calcipressin		0.383	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	C			24857861	1	no_errors	ENST00000374395	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24857861	C	G	24857861	3	3	21	1	0	0	0	0	1	0	0	0	13200	796	28	4	355	4	RCAN3	1	24857861	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2689296	24857861	224392760	5	2928										
FAM46B	115572	genome.wustl.edu	37	chr1	27332842	27332842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atcggtgctgggccggggccGgaagccccgcaccaggaggt	18	13	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:27332842G>A	ENST00000289166.5	-	2	1036	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	291										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGGGGCCGGAAGCCCCGC	0.677																																																	0													17	20	19					1																	27332842		2196	4292	6488	SO:0001583	missense	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.871C>T	1.37:g.27332842G>A	ENSP00000289166:p.Arg291Trp			Missense_Mutation	SNP	pfam_DUF1693	p.R291W	ENST00000289166.5	37	c.871	CCDS294.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221595	0.79464	.	.	ENSG00000158246	ENST00000289166	T	0.29917	1.55	5.31	4.39	0.52855	Domain of unknown function DUF1693 (1);	0.236488	0.42682	D	0.000668	T	0.57577	0.2063	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.64888	-0.6301	10	0.87932	D	0	0.0197	13.3575	0.60635	0.0:0.0:0.6382:0.3618	.	291	Q96A09	FA46B_HUMAN	W	291	ENSP00000289166:R291W	ENSP00000289166:R291W	R	-	1	2	FAM46B	27205429	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.337000	0.33862	1.435000	0.47434	0.561000	0.74099	CGG	FAM46B	-	pfam_DUF1693		0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	G	NM_052943		27332842	-1	no_errors	ENST00000289166	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27332842	G	A	27332842	3	1	21	1	0	0	0	0	1	0	0	0	5584	1115	39	2	410	2	FAM46B	1	27332842	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2474981	27332842	221917779	6	2929										
MED18	54797	genome.wustl.edu	37	chr1	28661335	28661335	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagggaacacagacagcactGaggccttgtcactctcctat	9	13	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:28661335G>A	ENST00000373842.4	+	3	690	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MED18_ENST00000398997.2_Missense_Mutation_p.E161K|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	161						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		AGACAGCACTGAGGCCTTGTC	0.483																																																	0													142	125	131					1																	28661335		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.481G>A	1.37:g.28661335G>A	ENSP00000362948:p.Glu161Lys		D3DPM1|Q9NXU9	Missense_Mutation	SNP	pfam_Mediator_Med18_met/fun	p.E161K	ENST00000373842.4	37	c.481	CCDS322.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849906	0.91277	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.84	5.84	0.93424	Mediator complex, subunit Med18, metazoa/fungi (1);	0.047897	0.85682	D	0.000000	T	0.73110	0.3545	M	0.71036	2.16	0.39270	D	0.96436	D	0.56287	0.975	P	0.54372	0.75	T	0.70263	-0.4920	9	0.24483	T	0.36	-23.6643	18.9075	0.92469	0.0:0.0:1.0:0.0	.	161	Q9BUE0	MED18_HUMAN	K	161	.	ENSP00000362948:E161K	E	+	1	0	MED18	28533922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.731000	0.98807	2.756000	0.94617	0.655000	0.94253	GAG	MED18	-	pfam_Mediator_Med18_met/fun		0.483	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED18	HGNC	protein_coding	OTTHUMT00000009856.1	G	NM_017638		28661335	1	no_errors	ENST00000373842	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28661335	G	A	28661335	3	1	21	1	0	0	0	0	1	0	0	0	9459	1291	45	1	487	1	MED18	1	28661335	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1328493	28661335	220589286	7	2930										
PUM1	9698	genome.wustl.edu	37	chr1	31409541	31409541	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tccgccacgtcaatcatcttCtggaccacgtagttggcata	8	13	4	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:31409541C>G	ENST00000257075.5	-	21	3471	c.3378G>C	c.(3376-3378)caG>caC	p.Q1126H	PUM1_ENST00000426105.2_Missense_Mutation_p.Q1128H|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373747.3_Missense_Mutation_p.Q1129H|PUM1_ENST00000423018.2_Missense_Mutation_p.Q984H|PUM1_ENST00000424085.2_Missense_Mutation_p.Q884H|PUM1_ENST00000373741.4_Missense_Mutation_p.Q1164H|PUM1_ENST00000373742.2_Missense_Mutation_p.Q1067H|PUM1_ENST00000440538.2_Missense_Mutation_p.Q1102H	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1126	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAATCATCTTCTGGACCACGT	0.572																																																	0													120	90	100					1																	31409541		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3378G>C	1.37:g.31409541C>G	ENSP00000257075:p.Gln1126His		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q1128H	ENST00000257075.5	37	c.3384	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.463355|4.463355	0.84425|0.84425	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	.|T;T;T;T;T;T;T;T	.|0.18960	.|2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.77|5.77	4.84|4.84	0.62591|0.62591	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63248|0.63248	0.2495|0.2495	H|H	0.97758|0.97758	4.07|4.07	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;1.0;1.0;0.992;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.995;0.992;0.995;1.0;0.92;1.0;1.0	T|T	0.79325|0.79325	-0.1850|-0.1850	5|10	.|0.87932	.|D	.|0	-4.9177|-4.9177	16.7493|16.7493	0.85481|0.85481	0.0:0.8708:0.1292:0.0|0.0:0.8708:0.1292:0.0	.|.	.|1067;984;1164;1102;1126;1128;1129;1128	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	Q|H	1065;840|884;1126;1129;866;1128;1102;1164;984;1067	.|ENSP00000400141:Q884H;ENSP00000257075:Q1126H;ENSP00000362852:Q1129H;ENSP00000391723:Q1128H;ENSP00000401777:Q1102H;ENSP00000362846:Q1164H;ENSP00000399440:Q984H;ENSP00000362847:Q1067H	.|ENSP00000257075:Q1126H	E|Q	-|-	1|3	0|2	PUM1|PUM1	31182128|31182128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	1.404000|1.404000	0.46819|0.46819	0.557000|0.557000	0.71058|0.71058	GAA|CAG	PUM1	-	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.572	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	C			31409541	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31409541	C	G	31409541	3	3	21	1	0	0	0	0	1	0	0	0	12855	912	32	1	190	1	PUM1	1	31409541	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2748206	31409541	217841080	8	2931										
KIF2C	11004	genome.wustl.edu	37	chr1	45223226	45223226	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaatactctacccctcttctAggttcacagcaaggccactg	6	14	4	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:45223226A>C	ENST00000372224.4	+	11	1090		c.e11-1		KIF2C_ENST00000372222.3_Splice_Site|KIF2C_ENST00000372217.1_Splice_Site|KIF2C_ENST00000493027.1_Splice_Site|KIF2C_ENST00000372218.4_Splice_Site|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CCCCTCTTCTAGGTTCACAGC	0.483																																																	0													100	96	98					1																	45223226		2203	4300	6503	SO:0001630	splice_region_variant	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.978-1A>C	1.37:g.45223226A>C			B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Splice_Site	SNP	-	e11-2	ENST00000372224.4	37	c.978-2	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308466	0.81247	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF2C	44995813	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	.	KIF2C	-	-		0.483	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	A	NM_006845	Intron	45223226	1	no_errors	ENST00000372224	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	45223226	A	C	45223226	5	2	21	1	0	0	0	0	0	0	1	0	8319	434	15	5	1018	5	KIF2C	1	45223226	Splice_Site	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	13813685	45223226	204027395	9	2932										
CC2D1B	200014	genome.wustl.edu	37	chr1	52825770	52825770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctccaaggcagggggagctgGagggtctgtctcagggctcc	17	11	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:52825770G>C	ENST00000371586.2	-	7	877	c.739C>G	c.(739-741)Cca>Gca	p.P247A	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P247A	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	247	Pro-rich.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGGAGCTGGAGGGTCTGTC	0.602																																																	0													28	33	31					1																	52825770		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.739C>G	1.37:g.52825770G>C	ENSP00000360642:p.Pro247Ala		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.P247A	ENST00000371586.2	37	c.739	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	G	0.680	-0.798537	0.02841	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.21543	2.0;2.0	5.05	0.835	0.18886	.	0.623111	0.16921	N	0.194081	T	0.14313	0.0346	L	0.50333	1.59	0.41823	D	0.990039	B	0.13145	0.007	B	0.11329	0.006	T	0.14615	-1.0466	10	0.10636	T	0.68	0.1836	4.9523	0.14021	0.0787:0.2714:0.51:0.1399	.	247	Q5T0F9	C2D1B_HUMAN	A	247;247;161	ENSP00000360642:P247A;ENSP00000284376:P247A	ENSP00000284376:P247A	P	-	1	0	CC2D1B	52598358	0.001000	0.12720	0.001000	0.08648	0.041000	0.13682	-0.057000	0.11768	0.000000	0.14550	0.491000	0.48974	CCA	CC2D1B	-	NULL		0.602	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	G	NM_032449		52825770	-1	no_errors	ENST00000371586	ensembl	human	known	70_37	missense	SNP	0.106	C	C	52825770	G	C	52825770	3	2	21	1	0	0	0	0	1	0	0	0	2732	1174	41	1	1909	1	CC2D1B	1	52825770	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7602544	52825770	196424851	10	2933										
PPAP2B	8613	genome.wustl.edu	37	chr1	56990047	56990047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaatcagggttgcagacactCaagaagtgaggacgcaggcg	14	8	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:56990047C>A	ENST00000371250.3	-	3	1028	c.477G>T	c.(475-477)ttG>ttT	p.L159F		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	159					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGCAGACACTCAAGAAGTGAG	0.507																																																	0													151	150	150					1																	56990047		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.477G>T	1.37:g.56990047C>A	ENSP00000360296:p.Leu159Phe		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L159F	ENST00000371250.3	37	c.477	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245192	0.59103	.	.	ENSG00000162407	ENST00000371250	T	0.75821	-0.97	5.7	3.8	0.43715	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.143089	0.47852	D	0.000204	T	0.79015	0.4375	M	0.62016	1.91	0.58432	D	0.999995	D	0.60575	0.988	D	0.64595	0.927	T	0.78293	-0.2260	10	0.56958	D	0.05	.	4.1493	0.10230	0.1311:0.6037:0.1271:0.138	.	159	O14495	LPP3_HUMAN	F	159	ENSP00000360296:L159F	ENSP00000360296:L159F	L	-	3	2	PPAP2B	56762635	0.924000	0.31332	0.998000	0.56505	0.996000	0.88848	0.214000	0.17541	1.377000	0.46286	0.655000	0.94253	TTG	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.507	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	C	NM_003713		56990047	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	missense	SNP	0.995	A	A	56990047	C	A	56990047	3	1	21	1	0	0	0	0	1	0	0	0	12315	825	29	3	474	3	PPAP2B	1	56990047	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4164277	56990047	192260574	11	2934										
KCND3	3752	genome.wustl.edu	37	chr1	112329586	112329586	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cttttgtgccctgcgtttatCagctctctgattctggtggt	10	10	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:112329586C>G	ENST00000315987.2	-	3	1728	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	KCND3_ENST00000302127.4_Missense_Mutation_p.D417H|KCND3_ENST00000369697.1_Missense_Mutation_p.D417H	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	417					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGCGTTTATCAGCTCTCTGA	0.572																																																	0													141	126	131					1																	112329586		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1249G>C	1.37:g.112329586C>G	ENSP00000319591:p.Asp417His		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.D417H	ENST00000315987.2	37	c.1249	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802295	0.90538	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97161	-4.26;-4.27;-4.26	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	D	0.99053	1.0828	10	0.87932	D	0	.	17.8944	0.88883	0.0:1.0:0.0:0.0	.	417;417	Q14D71;Q9UK17	.;KCND3_HUMAN	H	417	ENSP00000358711:D417H;ENSP00000319591:D417H;ENSP00000306923:D417H	ENSP00000306923:D417H	D	-	1	0	KCND3	112131109	1.000000	0.71417	0.947000	0.38551	0.988000	0.76386	7.818000	0.86416	2.398000	0.81561	0.561000	0.74099	GAT	KCND3	-	prints_K_chnl_volt-dep_Kv4		0.572	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	C	NM_172198		112329586	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112329586	C	G	112329586	3	3	21	1	0	0	0	0	1	0	0	0	8040	826	29	1	742	1	KCND3	1	112329586	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	55339539	112329586	136921035	12	2935										
MAN1A2	10905	genome.wustl.edu	37	chr1	117911031	117911031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtttagaagatgtgttaattCcacatgtagatgccggtaaa	10	5	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:117911031C>T	ENST00000356554.3	+	1	961	c.226C>T	c.(226-228)Cca>Tca	p.P76S	RP11-188D8.1_ENST00000604156.1_lincRNA|MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	76					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGTGTTAATTCCACATGTAGA	0.428																																					Ovarian(33;199 881 8228 13687 31538)												0													87	92	90					1																	117911031		2203	4300	6503	SO:0001583	missense	10905			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.226C>T	1.37:g.117911031C>T	ENSP00000348959:p.Pro76Ser		Q9H510	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.P76S	ENST00000356554.3	37	c.226	CCDS895.1	1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354295	0.61293	.	.	ENSG00000198162	ENST00000356554	D	0.82984	-1.67	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.68593	2.085	0.58432	D	0.999999	B	0.26935	0.164	B	0.24541	0.054	T	0.76777	-0.2834	10	0.49607	T	0.09	-15.5006	14.4414	0.67321	0.0:1.0:0.0:0.0	.	76	O60476	MA1A2_HUMAN	S	76	ENSP00000348959:P76S	ENSP00000348959:P76S	P	+	1	0	MAN1A2	117712554	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.223000	0.78033	2.255000	0.74692	0.561000	0.74099	CCA	MAN1A2	-	NULL		0.428	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	C	NM_006699		117911031	1	no_errors	ENST00000356554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117911031	C	T	117911031	3	4	21	1	0	0	0	0	1	0	0	0	9234	855	30	1	228	1	MAN1A2	1	117911031	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5581445	117911031	131339590	13	2936										
ANP32E	81611	genome.wustl.edu	37	chr1	150203003	150203003	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccaggacttccaagcctccaGaaattatattatcactaagc	5	12	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:150203003G>A	ENST00000314136.8	-	3	599	c.230C>T	c.(229-231)tCt>tTt	p.S77F	ANP32E_ENST00000533654.1_Missense_Mutation_p.S77F|ANP32E_ENST00000369114.5_Missense_Mutation_p.S77F|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.S29F|ANP32E_ENST00000369116.4_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	77					histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCTCCAGAAATTATATT	0.328																																																	0													93	95	94					1																	150203003		2203	4300	6503	SO:0001583	missense	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.230C>T	1.37:g.150203003G>A	ENSP00000324074:p.Ser77Phe		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.S77F	ENST00000314136.8	37	c.230	CCDS946.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189948	0.78789	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369114;ENST00000533654;ENST00000532744	T;T;T;T;T	0.26373	1.74;1.74;2.8;2.8;8.06	6.02	6.02	0.97574	.	0.108661	0.64402	D	0.000004	T	0.40322	0.1112	L	0.53671	1.685	0.80722	D	1	D;P;D	0.89917	0.999;0.716;1.0	D;P;D	0.70716	0.965;0.724;0.97	T	0.02378	-1.1168	10	0.45353	T	0.12	.	19.5267	0.95209	0.0:0.0:1.0:0.0	.	77;77;29	E9PLC4;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	F	77;29;77;77;27	ENSP00000324074:S77F;ENSP00000358115:S29F;ENSP00000358110:S77F;ENSP00000435215:S77F;ENSP00000432684:S27F	ENSP00000324074:S77F	S	-	2	0	ANP32E	148469627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.501000	0.73691	2.863000	0.98299	0.549000	0.68633	TCT	ANP32E	-	NULL		0.328	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32E	HGNC	protein_coding	OTTHUMT00000035056.1	G	NM_030920		150203003	-1	no_errors	ENST00000314136	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150203003	G	A	150203003	3	1	21	1	0	0	0	0	1	0	0	0	709	942	33	1	596	1	ANP32E	1	150203003	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	32291972	150203003	99047618	14	2937										
SNX27	81609	genome.wustl.edu	37	chr1	151664974	151664974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tctttccccactgtgcctgtGactccaggaggaaggggcac	12	13	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:151664974G>C	ENST00000458013.2	+	9	1423	c.1303G>C	c.(1303-1305)Gac>Cac	p.D435H	SNX27_ENST00000368838.1_Missense_Mutation_p.D342H|SNX27_ENST00000368843.3_Missense_Mutation_p.D435H			Q96L92	SNX27_HUMAN	sorting nexin family member 27	435	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTGCCTGTGACTCCAGGAG	0.438																																					Colon(46;291 966 40145 41237 41888)												0													125	106	113					1																	151664974		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1303G>C	1.37:g.151664974G>C	ENSP00000400333:p.Asp435His		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.D435H	ENST00000458013.2	37	c.1303		1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969490	0.92855	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	D;D;D	0.97114	-4.25;-4.25;-4.25	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.969;0.991	D	0.98832	1.0751	10	0.87932	D	0	.	17.2404	0.87011	0.0:0.0:1.0:0.0	.	435;435	Q96L92;Q96L92-3	SNX27_HUMAN;.	H	435;435;342	ENSP00000400333:D435H;ENSP00000357836:D435H;ENSP00000357831:D342H	ENSP00000357831:D342H	D	+	1	0	SNX27	149931598	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	8.736000	0.91554	2.861000	0.98227	0.650000	0.86243	GAC	SNX27	-	NULL		0.438	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	G	NM_030918		151664974	1	no_errors	ENST00000368843	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151664974	G	C	151664974	3	2	21	1	0	0	0	0	1	0	0	0	14927	1290	45	1	1337	1	SNX27	1	151664974	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1461971	151664974	97585647	15	2938										
RORC	6097	genome.wustl.edu	37	chr1	151783893	151783893	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgttctactttccttttctCttggagccctggccgatctg	8	13	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:151783893C>G	ENST00000318247.6	-	10	1410	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	RORC_ENST00000356728.6_Missense_Mutation_p.E414Q|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.E489Q	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	435	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCCTTTTCTCTTGGAGCCCT	0.493																																																	0													113	97	102					1																	151783893		2203	4300	6503	SO:0001583	missense	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1303G>C	1.37:g.151783893C>G	ENSP00000327025:p.Glu435Gln		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.E489Q	ENST00000318247.6	37	c.1465	CCDS1004.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587548	0.86851	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.95238	-3.65;-3.65;-3.65	4.61	4.61	0.57282	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.106711	0.43919	U	0.000511	D	0.94640	0.8272	L	0.39467	1.215	0.52099	D	0.99994	D;D;D;D	0.71674	0.993;0.995;0.995;0.998	P;P;P;D	0.67231	0.87;0.862;0.887;0.95	D	0.95324	0.8423	10	0.66056	D	0.02	.	16.171	0.81817	0.0:1.0:0.0:0.0	.	423;489;435;414	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Q	414;489;435	ENSP00000349164:E414Q;ENSP00000376461:E489Q;ENSP00000327025:E435Q	ENSP00000327025:E435Q	E	-	1	0	RORC	150050517	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	6.741000	0.74837	2.381000	0.81170	0.655000	0.94253	GAG	RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.493	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	C			151783893	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151783893	C	G	151783893	3	3	21	1	0	0	0	0	1	0	0	0	13560	922	32	1	261	1	RORC	1	151783893	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	118919	151783893	97466728	16	2939										
OR6K6	128371	genome.wustl.edu	37	chr1	158724677	158724677	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tttccttttctgtgttcacaGatgacacagttgacggccag	9	10	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:158724677G>A	ENST00000368144.2	+	1	168	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTGTTCACAGATGACACAGT	0.428																																																	0													159	155	156					1																	158724677		2203	4300	6503	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.72G>A	1.37:g.158724677G>A			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q24	ENST00000368144.2	37	c.72	CCDS30904.1	1																																																																																			OR6K6	-	NULL		0.428	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	G	NM_001005184		158724677	1	no_errors	ENST00000368144	ensembl	human	known	70_37	silent	SNP	0.977	A	A	158724677	G	A	158724677	2	1	21	1	0	0	0	0	0	0	0	1	11228	933	33	1		1	OR6K6	1	158724677	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6940784	158724677	90525944	17	2940										
DARC	2532	genome.wustl.edu	37	chr1	159175724	159175724	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcaggccaggtcccaggcctCaccctggggctcactgtggg	15	15	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:159175724C>A	ENST00000368122.2	+	2	1174	c.495C>A	c.(493-495)ctC>ctA	p.L165L	DARC_ENST00000368121.2_Silent_p.L167L|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Silent_p.L165L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		165					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TCCCAGGCCTCACCCTGGGGC	0.622																																																	0													39	32	34					1																	159175724		2203	4300	6503	SO:0001819	synonymous_variant	2532																														ENST00000368122.2:c.495C>A	1.37:g.159175724C>A			A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	prints_Duffy_chemokine_rcpt	p.L167	ENST00000368122.2	37	c.501	CCDS1183.1	1																																																																																			DARC	-	prints_Duffy_chemokine_rcpt		0.622	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	C			159175724	1	no_errors	ENST00000368121	ensembl	human	known	70_37	silent	SNP	0.077	A	A	159175724	C	A	159175724	2	1	21	1	0	0	0	0	0	0	0	1	4245	813	29	3		3	DARC	1	159175724	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	451047	159175724	90074897	18	2941										
C1orf110	339512	genome.wustl.edu	37	chr1	162824639	162824639	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gattccccatgcccaaatatCtctccaatgctaagcaacct	4	15	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:162824639C>G	ENST00000367910.1	-	4	945	c.825G>C	c.(823-825)gaG>gaC	p.E275D	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	275										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCCCAAATATCTCTCCAATGC	0.488																																																	0													102	98	99					1																	162824639		1896	4115	6011	SO:0001583	missense	339512			BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.825G>C	1.37:g.162824639C>G	ENSP00000356886:p.Glu275Asp		Q5JSG1|Q6ZW57	Missense_Mutation	SNP	NULL	p.E275D	ENST00000367910.1	37	c.825	CCDS44269.1	1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739737	0.30865	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	0.132	0.14762	.	0.121505	0.37219	N	0.002181	T	0.36248	0.0960	L	0.36672	1.1	0.29578	N	0.849404	D	0.76494	0.999	D	0.69307	0.963	T	0.32375	-0.9909	8	0.87932	D	0	-16.2229	6.1054	0.20071	0.0:0.5203:0.0:0.4797	.	275	Q86UF4	CA110_HUMAN	D	275	.	ENSP00000356886:E275D	E	-	3	2	C1orf110	161091263	1.000000	0.71417	0.106000	0.21319	0.016000	0.09150	0.655000	0.24933	0.135000	0.18707	-0.150000	0.13652	GAG	C1orf110	-	NULL		0.488	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf110	HGNC	protein_coding	OTTHUMT00000083211.2	C	NM_178550		162824639	-1	no_errors	ENST00000367910	ensembl	human	known	70_37	missense	SNP	0.659	G	G	162824639	C	G	162824639	3	3	21	1	0	0	0	0	1	0	0	0	1988	912	32	1	87	1	C1orf110	1	162824639	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3648915	162824639	86425982	19	2942										
ILDR2	387597	genome.wustl.edu	37	chr1	166891971	166891971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acacagggaactgcttgcttCtcatctgatggaaagactgg	11	9	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:166891971C>T	ENST00000271417.3	-	8	1125	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	ILDR2_ENST00000469934.2_Missense_Mutation_p.R357K|ILDR2_ENST00000525740.1_Missense_Mutation_p.R230K|ILDR2_ENST00000529071.1_Missense_Mutation_p.R338K|ILDR2_ENST00000526687.1_Missense_Mutation_p.R249K|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.R298K	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	357					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R357T(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTGCTTGCTTCTCATCTGATG	0.542																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											166	158	160					1																	166891971		2203	4300	6503	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1070G>A	1.37:g.166891971C>T	ENSP00000271417:p.Arg357Lys			Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.R357K	ENST00000271417.3	37	c.1070	CCDS1256.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737432	0.89482	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.79749	0.4;-1.26;0.43;0.36;-1.3;-0.27	5.24	5.24	0.73138	.	0.064498	0.64402	D	0.000005	D	0.86151	0.5864	M	0.65975	2.015	0.35214	D	0.775407	D	0.64830	0.994	D	0.70716	0.97	D	0.87731	0.2579	10	0.59425	D	0.04	.	16.9991	0.86377	0.0:1.0:0.0:0.0	.	357	Q71H61	ILDR2_HUMAN	K	357;230;357;338;249;298	ENSP00000271417:R357K;ENSP00000436120:R230K;ENSP00000437008:R357K;ENSP00000436882:R338K;ENSP00000434273:R249K;ENSP00000432750:R298K	ENSP00000271417:R357K	R	-	2	0	ILDR2	165158595	0.997000	0.39634	0.996000	0.52242	0.902000	0.53008	3.880000	0.56145	2.427000	0.82271	0.561000	0.74099	AGA	ILDR2	-	NULL		0.542	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILDR2	HGNC	protein_coding	OTTHUMT00000082880.2	C	NM_199351		166891971	-1	no_errors	ENST00000271417	ensembl	human	known	70_37	missense	SNP	1.000	T	T	166891971	C	T	166891971	3	4	21	1	0	0	0	0	1	0	0	0	7730	913	32	1	861	1	ILDR2	1	166891971	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4067332	166891971	82358650	20	2943										
C1orf9	51430	genome.wustl.edu	37	chr1	172557994	172557994	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tacagttagttcaagaggagGaagaggaggcaagtccatct	13	6	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:172557994G>T	ENST00000263688.3	+	18	1972	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	SUCO_ENST00000610051.1_Nonsense_Mutation_p.E548*|SUCO_ENST00000608151.1_Nonsense_Mutation_p.E737*|SUCO_ENST00000367723.4_Nonsense_Mutation_p.E736*	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	585					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TCAAGAGGAGGAAGAGGAGGC	0.463																																																	0													79	69	72					1																	172557994		2203	4300	6503	SO:0001587	stop_gained	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1753G>T	1.37:g.172557994G>T	ENSP00000263688:p.Glu585*		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Nonsense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E737*	ENST00000263688.3	37	c.2209	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.092119	0.98648	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.44	5.44	0.79542	.	0.046718	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.7013	17.8296	0.88677	0.0:0.0:1.0:0.0	.	.	.	.	X	737;585	.	ENSP00000263688:E585X	E	+	1	0	C1orf9	170824617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.545000	0.82128	2.543000	0.85770	0.557000	0.71058	GAA	SUCO	-	NULL		0.463	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	G	NM_016227		172557994	1	no_errors	ENST00000367723	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	172557994	G	T	172557994	4	4	21	1	0	0	0	0	0	1	0	0	2072	1175	41	3	1823	3	C1orf9	1	172557994	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5666023	172557994	76692627	21	2944										
ZBTB37	84614	genome.wustl.edu	37	chr1	173842618	173842618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccaacagatttagcccctccGgcagtgttgttcccttgaca	8	14	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:173842618G>A	ENST00000367701.5	+	3	1128	c.937G>A	c.(937-939)Ggc>Agc	p.G313S	ZBTB37_ENST00000367702.1_Missense_Mutation_p.G313S|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000432989.1_Missense_Mutation_p.G313S|ZBTB37_ENST00000427304.1_Missense_Mutation_p.G313S			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TAGCCCCTCCGGCAGTGTTGT	0.483																																																	0													68	66	67					1																	173842618		2203	4300	6503	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.937G>A	1.37:g.173842618G>A	ENSP00000356674:p.Gly313Ser		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G313S	ENST00000367701.5	37	c.937	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194931	0.58017	.	.	ENSG00000185278	ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;D;D;T	0.87491	2.6;-2.26;-2.26;2.6	5.9	5.9	0.94986	.	0.095521	0.64402	D	0.000001	D	0.85327	0.5671	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.946	T	0.79860	-0.1625	10	0.07482	T	0.82	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	313;313	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	S	313;313;313;221;313	ENSP00000415293:G313S;ENSP00000409408:G313S;ENSP00000356675:G313S;ENSP00000356674:G313S	ENSP00000356674:G313S	G	+	1	0	ZBTB37	172109241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.230000	0.95299	2.788000	0.95919	0.650000	0.86243	GGC	ZBTB37	-	NULL		0.483	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	G	NM_032522		173842618	1	no_errors	ENST00000367701	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173842618	G	A	173842618	3	1	21	1	0	0	0	0	1	0	0	0	17568	1116	39	2	943	2	ZBTB37	1	173842618	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1284624	173842618	75408003	22	2945										
CACNA1E	777	genome.wustl.edu	37	chr1	181708285	181708285	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gttcatatccttctgcagatGatagaccaaggcttgatcct	8	10	2	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:181708285G>T	ENST00000367573.2	+	25	3615	c.3615G>T	c.(3613-3615)atG>atT	p.M1205I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.M812I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M1156I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M1186I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1137I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M1205I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.M1186I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1205					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)			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						TTCTGCAGATGATAGACCAAG	0.537																																																	0													222	226	225					1																	181708285		2101	4228	6329	SO:0001583	missense	777			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.3615G>T	1.37:g.181708285G>T	ENSP00000356545:p.Met1205Ile		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.M1205I	ENST00000367573.2	37	c.3615	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254231	0.80135	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68	5.01	5.01	0.66863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	N	0.01742	-0.745	0.80722	D	1	B;B;P	0.48294	0.282;0.374;0.908	B;B;D	0.64144	0.225;0.444;0.922	D	0.95040	0.8177	10	0.22706	T	0.39	.	18.2808	0.90097	0.0:0.0:1.0:0.0	.	1186;1205;1205	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1205;1186;1156;1137;812;1186;1205	ENSP00000356542:M1205I;ENSP00000434814:M1186I;ENSP00000350183:M1156I;ENSP00000351101:M1137I;ENSP00000356539:M812I;ENSP00000353222:M1186I;ENSP00000356545:M1205I	ENSP00000350183:M1156I	M	+	3	0	CACNA1E	179974908	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.675000	0.98638	2.475000	0.83589	0.561000	0.74099	ATG	CACNA1E	-	pfam_Ion_trans_dom		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181708285	1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	T	T	181708285	G	T	181708285	3	4	21	1	0	0	0	0	1	0	0	0	2547	1290	45	3	3713	3	CACNA1E	1	181708285	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7865667	181708285	67542336	23	2946										
CENPF	1063	genome.wustl.edu	37	chr1	214816097	214816097	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgggcttggaggaggggctCgttccatccctgtcatcctc	13	13	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:214816097C>T	ENST00000366955.3	+	12	4584	c.4416C>T	c.(4414-4416)ctC>ctT	p.L1472L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1568	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGAGGGGCTCGTTCCATCCC	0.473																																					Colon(80;575 1284 11000 14801 43496)												0													70	69	69					1																	214816097		2203	4300	6503	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4416C>T	1.37:g.214816097C>T			Q13171|Q13246|Q5VVM7	Silent	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.L1472	ENST00000366955.3	37	c.4416	CCDS31023.1	1																																																																																			CENPF	-	NULL		0.473	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214816097	1	no_errors	ENST00000366955	ensembl	human	known	70_37	silent	SNP	0.000	T	T	214816097	C	T	214816097	2	4	21	1	0	0	0	0	0	0	0	1	3236	871	31	1		1	CENPF	1	214816097	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	33107812	214816097	34434524	24	2947										
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220363455	220363455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gctgctagtttcttcactagGtgcatatccttggctcgttc	9	11	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:220363455G>A	ENST00000358951.2	-	16	1781	c.1665C>T	c.(1663-1665)caC>caT	p.H555H		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	555					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTTCACTAGGTGCATATCCT	0.308																																																	0													124	122	122					1																	220363455		2203	4300	6503	SO:0001819	synonymous_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1665C>T	1.37:g.220363455G>A			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	superfamily_WD40_repeat_dom	p.H555	ENST00000358951.2	37	c.1665	CCDS31028.1	1																																																																																			RAB3GAP2	-	NULL		0.308	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220363455	-1	no_errors	ENST00000358951	ensembl	human	known	70_37	silent	SNP	1.000	A	A	220363455	G	A	220363455	2	1	21	1	0	0	0	0	0	0	0	1	12966	1252	44	4		4	RAB3GAP2	1	220363455	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5547358	220363455	28887166	25	2948										
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220369645	220369645	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggaccctacagtgatatactGagacatggcaggtggactat	12	8	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:220369645G>C	ENST00000358951.2	-	10	1023	c.907C>G	c.(907-909)Cag>Gag	p.Q303E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	303					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGATATACTGAGACATGGCA	0.383																																																	0													119	118	118					1																	220369645		2203	4300	6503	SO:0001583	missense	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.907C>G	1.37:g.220369645G>C	ENSP00000351832:p.Gln303Glu		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.Q303E	ENST00000358951.2	37	c.907	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988941	0.93106	.	.	ENSG00000118873	ENST00000358951	T	0.31769	1.48	5.65	5.65	0.86999	.	0.161178	0.56097	D	0.000028	T	0.37210	0.0995	L	0.44542	1.39	0.80722	D	1	D	0.53619	0.961	P	0.53224	0.721	T	0.06409	-1.0828	10	0.02654	T	1	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	303	Q9H2M9	RBGPR_HUMAN	E	303	ENSP00000351832:Q303E	ENSP00000351832:Q303E	Q	-	1	0	RAB3GAP2	218436268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.326000	0.96389	2.658000	0.90341	0.462000	0.41574	CAG	RAB3GAP2	-	NULL		0.383	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220369645	-1	no_errors	ENST00000358951	ensembl	human	known	70_37	missense	SNP	1.000	C	C	220369645	G	C	220369645	3	2	21	1	0	0	0	0	1	0	0	0	12966	1299	45	1	3378	1	RAB3GAP2	1	220369645	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6190	220369645	28880976	26	2949										
LYST	1130	genome.wustl.edu	37	chr1	235944340	235944340	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acagataaaaggcctcttgtGaaccaaccttagctcctgaa	7	11	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:235944340G>C	ENST00000389794.3	-	16	5213	c.5039C>G	c.(5038-5040)tCa>tGa	p.S1680*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.S1680*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1680					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S1680*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCCTCTTGTGAACCAACCTT	0.343																																																	1	Substitution - Nonsense(1)	lung(1)											34	33	34					1																	235944340		2203	4300	6503	SO:0001587	stop_gained	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5039C>G	1.37:g.235944340G>C	ENSP00000374444:p.Ser1680*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1680*	ENST00000389794.3	37	c.5039	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.114963	0.99637	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	5.05	0.67936	.	0.609185	0.17169	N	0.184380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.769	0.91883	0.0:0.0:1.0:0.0	.	.	.	.	X	1680	.	ENSP00000374443:S1680X	S	-	2	0	LYST	234010963	0.998000	0.40836	0.994000	0.49952	0.957000	0.61999	6.204000	0.72143	2.506000	0.84524	0.467000	0.42956	TCA	LYST	-	superfamily_ARM-type_fold		0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235944340	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	nonsense	SNP	0.966	C	C	235944340	G	C	235944340	4	2	21	1	0	0	0	0	0	1	0	0	9151	1294	45	1	6518	1	LYST	1	235944340	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	15574695	235944340	13306281	27	2950										
SDCCAG8	10806	genome.wustl.edu	37	chr1	243579062	243579062	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagcaaaggcccaagcccttCaggcccagcaaagagagcag	11	13	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:243579062C>T	ENST00000366541.3	+	14	1793	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	SDCCAG8_ENST00000355875.4_Nonsense_Mutation_p.Q516*|SDCCAG8_ENST00000343783.6_Nonsense_Mutation_p.Q414*	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	559	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CCAAGCCCTTCAGGCCCAGCA	0.483																																																	0													83	78	80					1																	243579062		2203	4300	6503	SO:0001587	stop_gained	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1675C>T	1.37:g.243579062C>T	ENSP00000355499:p.Gln559*		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Nonsense_Mutation	SNP	NULL	p.Q559*	ENST00000366541.3	37	c.1675	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.152360	0.94645	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783	.	.	.	5.6	5.6	0.85130	.	0.205062	0.42420	D	0.000718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.0525	19.9854	0.97342	0.0:1.0:0.0:0.0	.	.	.	.	X	516;559;414	.	ENSP00000341260:Q414X	Q	+	1	0	SDCCAG8	241645685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.443000	0.59994	2.786000	0.95864	0.563000	0.77884	CAG	SDCCAG8	-	NULL		0.483	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	C	NM_006642		243579062	1	no_errors	ENST00000366541	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	243579062	C	T	243579062	4	4	21	1	0	0	0	0	0	1	0	0	13989	827	29	1	1729	1	SDCCAG8	1	243579062	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	7634722	243579062	5671559	28	2951										
OR2L2	26246	genome.wustl.edu	37	chr1	248202316	248202316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacctcactgtagtgtccttCtactatgcaccctttgctta	5	14	2	0	rs12134979		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr1:248202316C>T	ENST00000366479.2	+	1	843	c.747C>T	c.(745-747)ttC>ttT	p.F249F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	249			F -> L (in dbSNP:rs12134979).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAGTGTCCTTCTACTATGCAC	0.512													c|||	1	0.000199681	0	0	5008	,	,		22416	0		0.001	False		,,,				2504	0																0													197	174	182					1																	248202316		2203	4300	6503	SO:0001819	synonymous_variant	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.747C>T	1.37:g.248202316C>T			Q2M3T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F249	ENST00000366479.2	37	c.747	CCDS31103.1	1																																																																																			OR2L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	C	NM_001004686		248202316	1	no_errors	ENST00000366479	ensembl	human	known	70_37	silent	SNP	0.000	T	T	248202316	C	T	248202316	2	4	21	1	0	0	0	0	0	0	0	1	11031	912	32	1		1	OR2L2	1	248202316	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4623254	248202316	1048305	29	2952										
C2orf16	84226	genome.wustl.edu	37	chr2	27804955	27804955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtcctttgagaggagccatcGtaggatttctgagagaagtc	13	7	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:27804955G>A	ENST00000408964.2	+	1	5567	c.5516G>A	c.(5515-5517)cGt>cAt	p.R1839H	ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1839	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCATCGTAGGATTTCT	0.557																																																	0													81	85	84					2																	27804955		1906	4126	6032	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5516G>A	2.37:g.27804955G>A	ENSP00000386190:p.Arg1839His		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.R1839H	ENST00000408964.2	37	c.5516	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	g	10.66	1.413082	0.25465	.	.	ENSG00000221843	ENST00000408964	T	0.05855	3.38	1.6	-3.15	0.05233	.	.	.	.	.	T	0.03263	0.0095	L	0.36672	1.1	0.09310	N	1	D	0.53151	0.958	B	0.32724	0.151	T	0.41288	-0.9517	9	0.29301	T	0.29	.	5.2344	0.15439	0.0:0.4041:0.3914:0.2045	.	1839	Q68DN1	CB016_HUMAN	H	1839	ENSP00000386190:R1839H	ENSP00000386190:R1839H	R	+	2	0	C2orf16	27658459	0.001000	0.12720	0.000000	0.03702	0.140000	0.21249	-0.362000	0.07602	-0.834000	0.04239	0.306000	0.20318	CGT	C2orf16	-	NULL		0.557	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	G	NM_032266		27804955	1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.000	A	A	27804955	G	A	27804955	3	1	21	1	0	0	0	0	1	0	0	0	2162	1145	40	2	5518	2	C2orf16	2	27804955	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		27804955	215394418	30	2953										
FAM179A	165186	genome.wustl.edu	37	chr2	29245120	29245120	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	taaggagttgaggcctttctCgaacccggagctggggctga	15	9	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:29245120C>G	ENST00000379558.4	+	11	1808	c.1457C>G	c.(1456-1458)tCg>tGg	p.S486W	FAM179A_ENST00000403861.2_Missense_Mutation_p.S431W|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	486										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCCTTTCTCGAACCCGGAG	0.572																																																	0													81	85	83					2																	29245120		2033	4189	6222	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1457C>G	2.37:g.29245120C>G	ENSP00000368876:p.Ser486Trp		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S486W	ENST00000379558.4	37	c.1457	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628587	0.67015	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.69926	-0.37;-0.44	4.99	4.99	0.66335	Armadillo-type fold (1);	0.000000	0.52532	D	0.000067	T	0.74419	0.3714	L	0.29908	0.895	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78293	-0.2260	10	0.87932	D	0	.	17.8613	0.88781	0.0:1.0:0.0:0.0	.	431;486	F8W8E4;Q6ZUX3	.;F179A_HUMAN	W	486;431	ENSP00000368876:S486W;ENSP00000384699:S431W	ENSP00000368876:S486W	S	+	2	0	FAM179A	29098624	0.995000	0.38212	0.996000	0.52242	0.707000	0.40811	3.650000	0.54424	2.303000	0.77524	0.549000	0.68633	TCG	FAM179A	-	superfamily_ARM-type_fold		0.572	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29245120	1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.997	G	G	29245120	C	G	29245120	3	3	21	1	0	0	0	0	1	0	0	0	5520	893	31	1	1495	1	FAM179A	2	29245120	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	1440165	29245120	213954253	31	2954										
ALK	238	genome.wustl.edu	37	chr2	29419650	29419650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttttacctgggtgcagtattCaatcctctccaaaatgatgg	8	9	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:29419650C>T	ENST00000389048.3	-	28	5056	c.4150G>A	c.(4150-4152)Gaa>Aaa	p.E1384K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTGCAGTATTCAATCCTCTCC	0.383			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome		OREG0014526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													125	123	123					2																	29419650		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4150G>A	2.37:g.29419650C>T	ENSP00000373700:p.Glu1384Lys	809	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1384K	ENST00000389048.3	37	c.4150	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876288	0.33162	.	.	ENSG00000171094	ENST00000389048	T	0.78816	-1.21	5.79	5.79	0.91817	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	U	0.000218	T	0.69655	0.3135	L	0.41961	1.31	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62723	-0.6794	9	.	.	.	.	13.2642	0.60125	0.0:0.9276:0.0:0.0723	.	1384	Q9UM73	ALK_HUMAN	K	1384	ENSP00000373700:E1384K	.	E	-	1	0	ALK	29273154	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.726000	0.47302	2.740000	0.93945	0.563000	0.77884	GAA	ALK	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.383	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	C	NM_004304		29419650	-1	no_errors	ENST00000389048	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29419650	C	T	29419650	3	4	21	1	0	0	0	0	1	0	0	0	525	835	29	1	720	1	ALK	2	29419650	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	174530	29419650	213779723	32	2955										
PCYOX1	51449	genome.wustl.edu	37	chr2	70504273	70504273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacaaattttaaagctctttCtgtcctatgattatgctgtg	6	8	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:70504273C>G	ENST00000433351.2	+	6	1295	c.1267C>G	c.(1267-1269)Ctg>Gtg	p.L423V	PCYOX1_ENST00000264441.5_3'UTR|PCYOX1_ENST00000545138.1_Missense_Mutation_p.L345V|PCYOX1_ENST00000505044.2_Missense_Mutation_p.L346V	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	423					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AAAGCTCTTTCTGTCCTATGA	0.403																																																	0													65	71	69					2																	70504273		2203	4300	6503	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1267C>G	2.37:g.70504273C>G	ENSP00000387654:p.Leu423Val		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.L423V	ENST00000433351.2	37	c.1267	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	C	2.571	-0.299588	0.05532	.	.	ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138	T;T;T	0.14516	2.5;2.5;2.5	5.23	-5.98	0.02220	Prenylcysteine lyase (1);	0.493793	0.19410	N	0.114946	T	0.03739	0.0106	N	0.04090	-0.28	0.22034	N	0.999403	B;B	0.10296	0.002;0.003	B;B	0.15052	0.012;0.011	T	0.25012	-1.0144	10	0.28530	T	0.3	-5.1664	3.7885	0.08710	0.0852:0.3576:0.1978:0.3593	.	405;423	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	V	346;423;345	ENSP00000441566:L346V;ENSP00000387654:L423V;ENSP00000439916:L345V	ENSP00000387654:L423V	L	+	1	2	PCYOX1	70357777	0.065000	0.20965	0.893000	0.35052	0.488000	0.33401	-0.157000	0.10085	-0.957000	0.03627	-1.099000	0.02127	CTG	PCYOX1	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.403	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	C	NM_016297		70504273	1	no_errors	ENST00000433351	ensembl	human	known	70_37	missense	SNP	0.052	G	G	70504273	C	G	70504273	3	3	21	1	0	0	0	0	1	0	0	0	11632	912	32	1	1289	1	PCYOX1	2	70504273	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	41084623	70504273	172695100	33	2956										
ASTL	431705	genome.wustl.edu	37	chr2	96803339	96803339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttaattgcaggaatgtccttGtccccggaggcctgggttcc	12	11	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:96803339G>C	ENST00000342380.2	-	2	155	c.156C>G	c.(154-156)gaC>gaG	p.D52E		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GAATGTCCTTGTCCCCGGAGG	0.597																																																	0													172	148	156					2																	96803339		2203	4300	6503	SO:0001583	missense	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.156C>G	2.37:g.96803339G>C	ENSP00000343674:p.Asp52Glu			Missense_Mutation	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.D52E	ENST00000342380.2	37	c.156	CCDS33249.1	2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604603	0.66445	.	.	ENSG00000188886	ENST00000342380	T	0.66995	-0.24	4.46	2.58	0.30949	.	0.000000	0.37219	N	0.002194	T	0.67599	0.2910	L	0.34521	1.04	0.23506	N	0.997538	D	0.76494	0.999	D	0.73708	0.981	T	0.55114	-0.8191	10	0.33940	T	0.23	-22.898	7.9167	0.29822	0.2107:0.0:0.7893:0.0	.	52	Q6HA08	ASTL_HUMAN	E	52	ENSP00000343674:D52E	ENSP00000343674:D52E	D	-	3	2	ASTL	96167066	0.998000	0.40836	1.000000	0.80357	0.883000	0.51084	0.217000	0.17603	1.023000	0.39654	0.650000	0.86243	GAC	ASTL	-	NULL		0.597	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1	G			96803339	-1	no_errors	ENST00000342380	ensembl	human	known	70_37	missense	SNP	0.997	C	C	96803339	G	C	96803339	3	2	21	1	0	0	0	0	1	0	0	0	1064	1368	48	4	1170	4	ASTL	2	96803339	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	26299066	96803339	146396034	34	2957										
LONRF2	164832	genome.wustl.edu	37	chr2	100915696	100915696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtaccatcctacctcatgcaGagggcacactcaaagtcagt	8	13	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:100915696G>A	ENST00000393437.3	-	6	1992	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	LONRF2_ENST00000409647.1_Silent_p.L208L	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	451							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACCTCATGCAGAGGGCACACT	0.428																																																	0													85	82	83					2																	100915696		2203	4300	6503	SO:0001819	synonymous_variant	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1353C>T	2.37:g.100915696G>A			B9A006|Q6ZSR4	Silent	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L451	ENST00000393437.3	37	c.1353	CCDS2046.2	2																																																																																			LONRF2	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.428	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	G	NM_198461		100915696	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	silent	SNP	0.950	A	A	100915696	G	A	100915696	2	1	21	1	0	0	0	0	0	0	0	1	8918	929	33	1		1	LONRF2	2	100915696	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	4112357	100915696	142283677	35	2958										
RGPD4	285190	genome.wustl.edu	37	chr2	108487596	108487596	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaccagtagttcaaatgcctGaaaaagtagaacttgtaata	7	6	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:108487596G>C	ENST00000408999.3	+	20	3213	c.3136G>C	c.(3136-3138)Gaa>Caa	p.E1046Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1046Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1046	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAAATGCCTGAAAAAGTAGA	0.388																																																	0													10	7	8					2																	108487596		685	1564	2249	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3136G>C	2.37:g.108487596G>C	ENSP00000386810:p.Glu1046Gln		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1046Q	ENST00000408999.3	37	c.3136	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	10.75	1.437443	0.25900	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.46819	0.86;0.86	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.53029	0.1771	L	0.45698	1.435	0.34459	D	0.701506	D	0.59357	0.985	P	0.55999	0.789	T	0.66917	-0.5802	9	0.66056	D	0.02	-38.6669	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1046	Q7Z3J3	RGPD4_HUMAN	Q	1046;1046;804	ENSP00000347081:E1046Q;ENSP00000386810:E1046Q	ENSP00000347081:E1046Q	E	+	1	0	RGPD4	107854028	1.000000	0.71417	0.985000	0.45067	0.420000	0.31355	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	GAA	RGPD4	-	smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.388	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108487596	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108487596	G	C	108487596	3	2	21	1	0	0	0	0	1	0	0	0	13318	1291	45	1	3214	1	RGPD4	2	108487596	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7571900	108487596	134711777	36	2959										
PTPN4	5775	genome.wustl.edu	37	chr2	120658344	120658344	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtgatgtcaggaggaattctGatttataagaacagggtacg	13	4	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:120658344G>A	ENST00000263708.2	+	10	1497	c.726G>A	c.(724-726)ctG>ctA	p.L242L		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	242	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GAGGAATTCTGATTTATAAGA	0.274																																																	0													90	97	95					2																	120658344		2203	4277	6480	SO:0001819	synonymous_variant	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.726G>A	2.37:g.120658344G>A			B2RBV8|Q9UDA7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L242	ENST00000263708.2	37	c.726	CCDS2129.1	2																																																																																			PTPN4	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Ez/rad/moesin,pfscan_FERM_domain		0.274	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	G			120658344	1	no_errors	ENST00000263708	ensembl	human	known	70_37	silent	SNP	1.000	A	A	120658344	G	A	120658344	2	1	21	1	0	0	0	0	0	0	0	1	12820	1277	45	1		1	PTPN4	2	120658344	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	12170748	120658344	122541029	37	2960										
IWS1	55677	genome.wustl.edu	37	chr2	128262290	128262290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttcatcttcactatcagaaaGcacagcagcttttctcttcg	5	12	5	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:128262290G>A	ENST00000295321.4	-	3	1448	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.L404F	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	397	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTATCAGAAAGCACAGCAGCT	0.398																																																	0													258	258	258					2																	128262290		2203	4300	6503	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1189C>T	2.37:g.128262290G>A	ENSP00000295321:p.Leu397Phe		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.L397F	ENST00000295321.4	37	c.1189	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560997	0.45590	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.64260	1.31;-0.09	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.63843	1.955	0.53688	D	0.999977	D	0.76494	0.999	D	0.87578	0.998	T	0.78104	-0.2334	10	0.56958	D	0.05	-18.9129	20.0235	0.97511	0.0:0.0:1.0:0.0	.	397	Q96ST2	IWS1_HUMAN	F	397;350;404	ENSP00000295321:L397F;ENSP00000399245:L404F	ENSP00000295321:L397F	L	-	1	0	IWS1	127978760	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	5.093000	0.64517	2.727000	0.93392	0.563000	0.77884	CTT	IWS1	-	NULL		0.398	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	G	NM_017969		128262290	-1	no_errors	ENST00000295321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128262290	G	A	128262290	3	1	21	1	0	0	0	0	1	0	0	0	7951	971	34	4	1318	4	IWS1	2	128262290	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7603946	128262290	114937083	38	2961										
MYO7B	4648	genome.wustl.edu	37	chr2	128394377	128394377	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctctgcccccaggacctgctCaccacctatcccttcaccaa	4	21	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:128394377C>G	ENST00000409816.2	+	45	6170	c.6138C>G	c.(6136-6138)ctC>ctG	p.L2046L	MYO7B_ENST00000428314.1_Silent_p.L2046L|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000409090.1_Silent_p.L899L|MYO7B_ENST00000389524.4_Silent_p.L2047L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2046	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGACCTGCTCACCACCTATC	0.667																																																	0													59	68	65					2																	128394377		2065	4191	6256	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6138C>G	2.37:g.128394377C>G			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.L2047	ENST00000409816.2	37	c.6141	CCDS46405.1	2																																																																																			MYO7B	-	pfscan_FERM_domain		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128394377	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.980	G	G	128394377	C	G	128394377	2	3	21	1	0	0	0	0	0	0	0	1	10106	813	29	1		1	MYO7B	2	128394377	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	132087	128394377	114804996	39	2962										
YSK4	80122	genome.wustl.edu	37	chr2	135756556	135756556	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtgcccattcttgaagcgatGagtttatcagactaaagggg	12	7	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:135756556G>A	ENST00000375845.3	-	5	356	c.326C>T	c.(325-327)tCa>tTa	p.S109L	MAP3K19_ENST00000375844.3_Missense_Mutation_p.S109L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392917.3_Missense_Mutation_p.S109L|MAP3K19_ENST00000392918.3_Missense_Mutation_p.S109L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S126L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	109							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTGAAGCGATGAGTTTATCAG	0.443																																																	0													98	97	97					2																	135756556		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.326C>T	2.37:g.135756556G>A	ENSP00000365005:p.Ser109Leu		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.S109L	ENST00000375845.3	37	c.326	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866897	0.32977	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.75821	-0.97;-0.66;-0.68;-0.53;1.38	5.25	2.52	0.30459	.	1.238010	0.06082	N	0.662056	T	0.68201	0.2975	L	0.56769	1.78	0.09310	N	0.999997	B;B;B;B;B;P	0.39282	0.0;0.021;0.0;0.021;0.0;0.666	B;B;B;B;B;B	0.33339	0.002;0.021;0.004;0.021;0.004;0.162	T	0.56312	-0.8000	10	0.56958	D	0.05	.	6.9828	0.24711	0.2755:0.0:0.7245:0.0	.	109;109;109;126;109;109	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	L	109;109;109;109;126;81	ENSP00000365005:S109L;ENSP00000365004:S109L;ENSP00000376650:S109L;ENSP00000376649:S109L;ENSP00000376647:S126L	ENSP00000365004:S109L	S	-	2	0	YSK4	135473026	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.789000	0.26886	0.387000	0.25024	-0.142000	0.14014	TCA	MAP3K19	-	NULL		0.443	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135756556	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.000	A	A	135756556	G	A	135756556	3	1	21	1	0	0	0	0	1	0	0	0	17526	1294	45	1	3684	1	YSK4	2	135756556	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7362179	135756556	107442817	40	2963										
SPOPL	339745	genome.wustl.edu	37	chr2	139326585	139326585	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atttagtagcagaagcctttCgagcactagcatctgcacag	9	10	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:139326585C>T	ENST00000280098.4	+	11	1493	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	372					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGAAGCCTTTCGAGCACTAGC	0.423																																																	0													260	261	260					2																	139326585		2203	4300	6503	SO:0001587	stop_gained	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1114C>T	2.37:g.139326585C>T	ENSP00000280098:p.Arg372*			Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.R372*	ENST00000280098.4	37	c.1114	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.596275	0.98879	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.97	5.08	0.68730	.	0.058159	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9914	16.3912	0.83541	0.1328:0.8671:0.0:0.0	.	.	.	.	X	372	.	.	R	+	1	2	SPOPL	139043055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.053000	0.57427	1.494000	0.48533	0.655000	0.94253	CGA	SPOPL	-	NULL		0.423	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	C			139326585	1	no_errors	ENST00000280098	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	139326585	C	T	139326585	4	4	21	1	0	0	0	0	0	1	0	0	15115	876	31	1	1152	1	SPOPL	2	139326585	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3570029	139326585	103872788	41	2964										
CCDC148	130940	genome.wustl.edu	37	chr2	159166127	159166127	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctctatagcaaagcgatattGgtcacaatatttctcgtgtt	7	8	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:159166127G>A	ENST00000283233.5	-	9	1241	c.928C>T	c.(928-930)Caa>Taa	p.Q310*	CCDC148_ENST00000536771.1_Nonsense_Mutation_p.Q224*|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.Q319*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	310										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AAGCGATATTGGTCACAATAT	0.338																																																	0													79	80	79					2																	159166127		2201	4299	6500	SO:0001587	stop_gained	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.928C>T	2.37:g.159166127G>A	ENSP00000283233:p.Gln310*		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	NULL	p.Q310*	ENST00000283233.5	37	c.928	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.058800	0.97246	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	.	.	.	5.95	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8243	9.1011	0.36669	0.0:0.1422:0.5644:0.2935	.	.	.	.	X	310;158;319;224	.	ENSP00000283233:Q310X	Q	-	1	0	CCDC148	158874373	0.270000	0.24152	0.937000	0.37676	0.993000	0.82548	1.441000	0.35035	1.454000	0.47793	0.655000	0.94253	CAA	CCDC148	-	NULL		0.338	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	G	NM_138803		159166127	-1	no_errors	ENST00000283233	ensembl	human	known	70_37	nonsense	SNP	0.540	A	A	159166127	G	A	159166127	4	1	21	1	0	0	0	0	0	1	0	0	2787	1357	47	4	923	4	CCDC148	2	159166127	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	19839542	159166127	84033246	42	2965										
SCN2A	6326	genome.wustl.edu	37	chr2	166245843	166245843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagtccagctcattgccatgGatctgcccatggtgagtggt	12	10	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:166245843G>A	ENST00000375437.2	+	27	5817	c.5527G>A	c.(5527-5529)Gat>Aat	p.D1843N	SCN2A_ENST00000357398.3_Missense_Mutation_p.D1843N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1843N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1843N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1843					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTGCCATGGATCTGCCCAT	0.473																																																	0													124	119	121					2																	166245843		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5527G>A	2.37:g.166245843G>A	ENSP00000364586:p.Asp1843Asn		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D1843N	ENST00000375437.2	37	c.5527	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161503	0.78226	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.53	5.53	0.82687	.	0.077324	0.56097	D	0.000033	D	0.97952	0.9326	M	0.72894	2.215	0.80722	D	1	D;D	0.61080	0.989;0.972	D;D	0.79784	0.977;0.993	D	0.98446	1.0589	10	0.87932	D	0	.	19.8849	0.96909	0.0:0.0:1.0:0.0	.	1843;1843	Q99250-2;Q99250	.;SCN2A_HUMAN	N	1843	ENSP00000364586:D1843N;ENSP00000349973:D1843N;ENSP00000283256:D1843N;ENSP00000364576:D1843N	ENSP00000283256:D1843N	D	+	1	0	SCN2A	165954089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.781000	0.95711	0.580000	0.79431	GAT	SCN2A	-	NULL		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166245843	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166245843	G	A	166245843	3	1	21	1	0	0	0	0	1	0	0	0	13946	1174	41	1	5725	1	SCN2A	2	166245843	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7079716	166245843	76953530	43	2966										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098900	178098900	+	Frame_Shift_Del	DEL	C	C	-													0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttcaagttttttctgtttttCcagctcatactctttccgtc							TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:178098900delC	ENST00000397062.3	-	2	699	c.145delG	c.(145-147)gaafs	p.E49fs	NFE2L2_ENST00000397063.4_Frame_Shift_Del_p.E33fs|NFE2L2_ENST00000446151.2_Frame_Shift_Del_p.E33fs|NFE2L2_ENST00000423513.1_Frame_Shift_Del_p.E33fs|NFE2L2_ENST00000464747.1_Frame_Shift_Del_p.E33fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	49					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTCTGTTTTTCCAGCTCATAC	0.398			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													119	111	114					2																	178098900		1852	4096	5948	SO:0001589	frameshift_variant	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.145delG	2.37:g.178098900delC	ENSP00000380252:p.Glu49fs		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Frame_Shift_Del	DEL	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E49fs	ENST00000397062.3	37	c.145	CCDS42782.1	2																																																																																			NFE2L2	-	NULL		0.398	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098900	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	178098900	C	-	178098900	7	5	21	1	0	1	0	1	0	0	0	0	10392	864	30	0	1688	0	NFE2L2	2	178098900	Frame_Shift_Del	DEL	C	TCGA-C5-A1MH-01A-11D-A14W-08	11853057	178098900	65100473	44	2967										
TTN	7273	genome.wustl.edu	37	chr2	179425302	179425302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gttactctaaatatatattcAttgcctttgagtaacttggt	6	6	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:179425302A>G	ENST00000591111.1	-	276	80858	c.80634T>C	c.(80632-80634)aaT>aaC	p.N26878N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.N19579N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.N28519N|TTN_ENST00000342175.6_Silent_p.N19646N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.N25951N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N19454N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26878	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATATATTCATTGCCTTTGA	0.383																																																	0													49	50	50					2																	179425302		1888	4105	5993	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80634T>C	2.37:g.179425302A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N25951	ENST00000591111.1	37	c.77853		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179425302	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.999	G	G	179425302	A	G	179425302	2	3	21	1	0	0	0	0	0	0	0	1	16766	214	8	5		5	TTN	2	179425302	Silent	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	1326402	179425302	63774071	45	2968										
TTN	7273	genome.wustl.edu	37	chr2	179501215	179501215	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agcatcggaaagttgaacatCaatgatgtgcagctttctgt	10	7	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:179501215C>T	ENST00000591111.1	-	175	36540	c.36316G>A	c.(36316-36318)Gat>Aat	p.D12106N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D4807N|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D13747N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D4874N|TTN_ENST00000342992.6_Missense_Mutation_p.D11179N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4682N			Q8WZ42	TITIN_HUMAN	titin	12106	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGAACATCAATGATGTGC	0.418																																																	0													99	93	95					2																	179501215		1851	4114	5965	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36316G>A	2.37:g.179501215C>T	ENSP00000465570:p.Asp12106Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D11179N	ENST00000591111.1	37	c.33535		2	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253602	0.39797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50394	0.1613	N	0.12422	0.21	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.59241	-0.7491	9	0.87932	D	0	.	19.9446	0.97177	0.0:1.0:0.0:0.0	.	4682;4807;4874;12106	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11179;4682;4874;4807;4682	ENSP00000343764:D11179N;ENSP00000434586:D4682N;ENSP00000340554:D4874N;ENSP00000352154:D4807N	ENSP00000340554:D4874N	D	-	1	0	TTN	179209460	1.000000	0.71417	0.962000	0.40283	0.134000	0.20937	7.768000	0.85345	2.714000	0.92807	0.644000	0.83932	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179501215	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179501215	C	T	179501215	3	4	21	1	0	0	0	0	1	0	0	0	16766	826	29	1	67006	1	TTN	2	179501215	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	75913	179501215	63698158	46	2969										
STAT4	6775	genome.wustl.edu	37	chr2	191931242	191931242	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	actattcttgtcactctgatCtgcaaaggtaaagagatcag	8	8	5	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:191931242C>T	ENST00000392320.2	-	7	859		c.e7-1		STAT4_ENST00000358470.4_Splice_Site	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4						cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCACTCTGATCTGCAAAGGTA	0.423																																																	0													88	78	81					2																	191931242		2203	4300	6503	SO:0001630	splice_region_variant	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.545-1G>A	2.37:g.191931242C>T			Q96NZ6	Splice_Site	SNP	-	e6-1	ENST00000392320.2	37	c.545-1	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588792	0.86851	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7897	0.88548	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT4	191639487	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.364000	0.73086	2.648000	0.89879	0.557000	0.71058	.	STAT4	-	-		0.423	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	C	NM_003151	Intron	191931242	-1	no_errors	ENST00000358470	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	191931242	C	T	191931242	5	4	21	1	0	0	0	0	0	0	1	0	15297	927	32	1	1774	1	STAT4	2	191931242	Splice_Site	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	12430027	191931242	51268131	47	2970										
CYP20A1	57404	genome.wustl.edu	37	chr2	204161618	204161618	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agaagcttggatcactgtctCaaagagatattaaaatttta	7	5	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:204161618C>G	ENST00000356079.4	+	13	1499	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Nonsense_Mutation_p.S467*	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	459						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ATCACTGTCTCAAAGAGATAT	0.318																																																	0													66	68	67					2																	204161618		2203	4300	6503	SO:0001587	stop_gained	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1376C>G	2.37:g.204161618C>G	ENSP00000348380:p.Ser459*		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	p.S459*	ENST00000356079.4	37	c.1376	CCDS2357.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622470	0.87460	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	.	.	.	5.93	5.93	0.95920	.	0.269516	0.37761	N	0.001955	.	.	.	.	.	.	0.45015	D	0.998036	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.2043	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	X	459;432;467	.	ENSP00000348380:S459X	S	+	2	0	CYP20A1	203869863	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.715000	0.61909	2.798000	0.96311	0.655000	0.94253	TCA	CYP20A1	-	superfamily_Cyt_P450		0.318	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP20A1	HGNC	protein_coding	OTTHUMT00000256328.3	C	NM_020674		204161618	1	no_errors	ENST00000356079	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	204161618	C	G	204161618	4	3	21	1	0	0	0	0	0	1	0	0	4157	838	29	1	1426	1	CYP20A1	2	204161618	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	12230376	204161618	39037755	48	2971										
IKZF2	22807	genome.wustl.edu	37	chr2	213872482	213872482	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gctgggagaggcctctctttCctggggtcgactctttggtc	14	11	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:213872482C>A	ENST00000434687.1	-	9	1492	c.1183G>T	c.(1183-1185)Gaa>Taa	p.E395*	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.E401*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.E321*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.E250*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.E323*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.E369*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.E395*			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	395					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCCTCTCTTTCCTGGGGTCGA	0.498																																																	0													117	116	117					2																	213872482		2203	4300	6503	SO:0001587	stop_gained	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1183G>T	2.37:g.213872482C>A	ENSP00000412869:p.Glu395*		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E395*	ENST00000434687.1	37	c.1183	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.783646	0.96937	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	.	.	.	6.17	6.17	0.99709	.	0.065760	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2416	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	395;401;395;369;323;321;250;99	.	ENSP00000342876:E401X	E	-	1	0	IKZF2	213580727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.716000	0.61916	2.941000	0.99782	0.655000	0.94253	GAA	IKZF2	-	NULL		0.498	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	C	NM_016260		213872482	-1	no_errors	ENST00000434687	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	213872482	C	A	213872482	4	1	21	1	0	0	0	0	0	1	0	0	7635	864	30	3	401	3	IKZF2	2	213872482	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	9710864	213872482	29326891	49	2972										
USP37	57695	genome.wustl.edu	37	chr2	219362850	219362850	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agagattgtagaatagcattCatatagcaggtatttcccaa	8	6	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:219362850C>T	ENST00000258399.3	-	12	1468	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	USP37_ENST00000415516.1_Missense_Mutation_p.M280I|RN7SKP38_ENST00000410782.1_RNA|USP37_ENST00000454775.1_Missense_Mutation_p.M352I|USP37_ENST00000418019.1_Missense_Mutation_p.M352I	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	352	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GAATAGCATTCATATAGCAGG	0.348																																																	0													69	72	71					2																	219362850		2203	4299	6502	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1056G>A	2.37:g.219362850C>T	ENSP00000258399:p.Met352Ile		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.M352I	ENST00000258399.3	37	c.1056	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.435190	0.96150	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.52	5.52	0.82312	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.64676	1.99	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.991;0.995	T	0.60291	-0.7292	10	0.66056	D	0.02	-4.4601	19.7972	0.96491	0.0:1.0:0.0:0.0	.	280;352	Q86T82-2;Q86T82	.;UBP37_HUMAN	I	352;352;280;352	ENSP00000258399:M352I;ENSP00000393662:M352I;ENSP00000400902:M280I;ENSP00000396585:M352I	ENSP00000258399:M352I	M	-	3	0	USP37	219071094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.722000	0.84778	2.756000	0.94617	0.643000	0.83706	ATG	USP37	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.348	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935		219362850	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	missense	SNP	1.000	T	T	219362850	C	T	219362850	3	4	21	1	0	0	0	0	1	0	0	0	17099	826	29	1	1943	1	USP37	2	219362850	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5490368	219362850	23836523	50	2973										
CCDC108	255101	genome.wustl.edu	37	chr2	219894307	219894307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgtgcagtccgattggttctCaatccacaggggctgctcgg	13	12	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:219894307C>G	ENST00000341552.5	-	11	1551	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	CCDC108_ENST00000409865.3_Missense_Mutation_p.E479Q|CCDC108_ENST00000453220.1_Missense_Mutation_p.E490Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.E490Q|CCDC108_ENST00000410037.1_Missense_Mutation_p.E425Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	490						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTGGTTCTCAATCCACAGG	0.597											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													136	114	122					2																	219894307		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1468G>C	2.37:g.219894307C>G	ENSP00000340776:p.Glu490Gln	2262	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E490Q	ENST00000341552.5	37	c.1468	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259522	0.23051	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07327	3.49;3.49;3.49;3.2;3.22	5.18	4.27	0.50696	.	0.298301	0.24217	N	0.040474	T	0.06872	0.0175	L	0.61036	1.89	0.80722	D	1	B;P	0.34864	0.344;0.473	B;B	0.28232	0.087;0.087	T	0.16837	-1.0389	10	0.14656	T	0.56	-33.2017	3.9435	0.09338	0.0:0.5462:0.2518:0.202	.	479;490	E9PG25;Q6ZU64	.;CC108_HUMAN	Q	490;490;490;479;425;424	ENSP00000340776:E490Q;ENSP00000413377:E490Q;ENSP00000409117:E490Q;ENSP00000386945:E479Q;ENSP00000386258:E425Q	ENSP00000340776:E490Q	E	-	1	0	CCDC108	219602551	0.996000	0.38824	0.988000	0.46212	0.758000	0.43043	3.002000	0.49496	2.688000	0.91661	0.655000	0.94253	GAG	CCDC108	-	NULL		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219894307	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.881	G	G	219894307	C	G	219894307	3	3	21	1	0	0	0	0	1	0	0	0	2748	835	29	1	4409	1	CCDC108	2	219894307	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	531457	219894307	23305066	51	2974										
ALPI	248	genome.wustl.edu	37	chr2	233322739	233322739	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cccggagacacgaaatatgaGatccaccgagaccccacact	8	15	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:233322739G>C	ENST00000295463.3	+	8	965	c.888G>C	c.(886-888)gaG>gaC	p.E296D		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	296					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGAAATATGAGATCCACCGAG	0.612																																																	0													89	95	93					2																	233322739		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.888G>C	2.37:g.233322739G>C	ENSP00000295463:p.Glu296Asp		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.E296D	ENST00000295463.3	37	c.888	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	G	8.104	0.777296	0.16120	.	.	ENSG00000163295	ENST00000295463	D	0.97041	-4.22	4.46	-8.92	0.00774	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.463440	0.25261	N	0.031952	D	0.88540	0.6464	N	0.21097	0.63	0.19300	N	0.999977	B	0.16802	0.019	B	0.26969	0.075	T	0.79550	-0.1757	10	0.25751	T	0.34	.	1.5432	0.02559	0.1847:0.1969:0.1832:0.4352	.	296	P09923	PPBI_HUMAN	D	296	ENSP00000295463:E296D	ENSP00000295463:E296D	E	+	3	2	ALPI	233030983	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.011000	0.00314	-1.985000	0.00984	-0.291000	0.09656	GAG	ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.612	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	G	NM_001631		233322739	1	no_errors	ENST00000295463	ensembl	human	known	70_37	missense	SNP	0.000	C	C	233322739	G	C	233322739	3	2	21	1	0	0	0	0	1	0	0	0	543	933	33	1	918	1	ALPI	2	233322739	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	13428432	233322739	9876634	52	2975										
GIGYF2	26058	genome.wustl.edu	37	chr2	233709239	233709239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgatgcagtgaaagaggtggGacctaggaattcaacaaata	12	5	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr2:233709239G>A	ENST00000409547.1	+	27	3571	c.3260G>A	c.(3259-3261)gGa>gAa	p.G1087E	GIGYF2_ENST00000452341.2_3'UTR|GIGYF2_ENST00000373566.3_Missense_Mutation_p.G1109E|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1087E|GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1109E|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1108E|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1081E	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1087					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGAGGTGGGACCTAGGAAT	0.458																																																	0													69	68	69					2																	233709239		2203	4300	6503	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3260G>A	2.37:g.233709239G>A	ENSP00000386537:p.Gly1087Glu		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.G1109E	ENST00000409547.1	37	c.3326	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826953	0.50739	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.65;-0.66	5.82	5.82	0.92795	.	0.222310	0.48286	D	0.000192	T	0.64821	0.2633	L	0.48642	1.525	0.80722	D	1	B;B;B	0.24721	0.11;0.11;0.11	B;B;B	0.16722	0.016;0.016;0.016	T	0.60419	-0.7267	10	0.40728	T	0.16	-17.3643	15.5604	0.76240	0.0:0.1372:0.8628:0.0	.	1108;1087;1081	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	E	1109;1087;1109;1087;1081;1108;116	ENSP00000362667:G1109E;ENSP00000362664:G1087E;ENSP00000386765:G1109E;ENSP00000386537:G1087E;ENSP00000387070:G1081E;ENSP00000387170:G1108E	ENSP00000362664:G1087E	G	+	2	0	GIGYF2	233417483	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	5.102000	0.64572	2.756000	0.94617	0.561000	0.74099	GGA	GIGYF2	-	NULL		0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	G	NM_001103146		233709239	1	no_errors	ENST00000373566	ensembl	human	known	70_37	missense	SNP	1.000	A	A	233709239	G	A	233709239	3	1	21	1	0	0	0	0	1	0	0	0	6397	1174	41	1	3420	1	GIGYF2	2	233709239	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	386500	233709239	9490134	53	2976										
WDR48	57599	genome.wustl.edu	37	chr3	39125682	39125682	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atctgggcaaagtggattttGaagatgaaattaagaaaaga	11	2	1	5			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:39125682G>A	ENST00000302313.5	+	12	1238	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	WDR48_ENST00000544962.1_Missense_Mutation_p.E129K|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.E322K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	404					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGTGGATTTTGAAGATGAAAT	0.313																																																	0													105	113	110					3																	39125682		2203	4297	6500	SO:0001583	missense	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1210G>A	3.37:g.39125682G>A	ENSP00000307491:p.Glu404Lys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E404K	ENST00000302313.5	37	c.1210	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.272869	0.95429	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.90444	0.8;-2.67;0.53	5.91	5.91	0.95273	.	0.045541	0.85682	D	0.000000	D	0.93959	0.8066	M	0.80616	2.505	0.80722	D	1	B;B;P;B	0.44816	0.058;0.239;0.844;0.411	B;B;P;P	0.49683	0.023;0.379;0.619;0.513	D	0.93819	0.7117	10	0.62326	D	0.03	-14.902	20.2985	0.98592	0.0:0.0:1.0:0.0	.	129;322;395;404	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	404;129;322	ENSP00000307491:E404K;ENSP00000445187:E129K;ENSP00000379557:E322K	ENSP00000307491:E404K	E	+	1	0	WDR48	39100686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAA	WDR48	-	pfam_DUF3337		0.313	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	G	NM_020839		39125682	1	no_errors	ENST00000302313	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39125682	G	A	39125682	3	1	21	1	0	0	0	0	1	0	0	0	17332	1291	45	1	1256	1	WDR48	3	39125682	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		39125682	158896748	54	2977										
ALS2CL	259173	genome.wustl.edu	37	chr3	46716160	46716160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgctcatgaagcagcaggtaGagcgtgaagagctctgagta	14	8	2	5			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:46716160G>A	ENST00000318962.4	-	21	2408	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	ALS2CL_ENST00000383742.3_Silent_p.L122L|ALS2CL_ENST00000415953.1_Silent_p.L775L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	775					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCAGCAGGTAGAGCGTGAAGA	0.572																																																	0													119	106	110					3																	46716160		2203	4300	6503	SO:0001819	synonymous_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2325C>T	3.37:g.46716160G>A			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.L775	ENST00000318962.4	37	c.2325	CCDS2743.1	3																																																																																			ALS2CL	-	NULL		0.572	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46716160	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	silent	SNP	1.000	A	A	46716160	G	A	46716160	2	1	21	1	0	0	0	0	0	0	0	1	551	929	33	1		1	ALS2CL	3	46716160	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7590478	46716160	151306270	55	2978										
RASSF1	11186	genome.wustl.edu	37	chr3	50369054	50369054	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gggtcatccaccaccaagaaCtttcgcagcagggcctcaat	9	14	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:50369054C>G	ENST00000357043.2	-	4	743	c.708G>C	c.(706-708)aaG>aaC	p.K236N	RASSF1_ENST00000395126.3_Missense_Mutation_p.K81N|RASSF1_ENST00000359365.4_Missense_Mutation_p.K232N|RASSF1_ENST00000327761.3_Missense_Mutation_p.K162N					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCACCAAGAACTTTCGCAGCA	0.602																																																	0													79	86	84					3																	50369054		2203	4300	6503	SO:0001583	missense	11186			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.708G>C	3.37:g.50369054C>G	ENSP00000349547:p.Lys236Asn			Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K236N	ENST00000357043.2	37	c.708	CCDS2820.1	3	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636844	0.67130	.	.	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.47	0.333	0.15943	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.90198	3.095	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.62661	-0.6807	10	0.87932	D	0	-29.9348	10.5924	0.45316	0.0:0.6168:0.0:0.3832	.	232;236;162	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	N	162;81;236;232	ENSP00000333327:K162N;ENSP00000378558:K81N;ENSP00000349547:K236N;ENSP00000352323:K232N	ENSP00000333327:K162N	K	-	3	2	RASSF1	50344058	0.979000	0.34478	0.999000	0.59377	0.983000	0.72400	0.273000	0.18662	0.111000	0.17947	0.462000	0.41574	AAG	RASSF1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.602	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000314304.1	C			50369054	-1	no_errors	ENST00000357043	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50369054	C	G	50369054	3	3	21	1	0	0	0	0	1	0	0	0	13114	564	20	4	338	4	RASSF1	3	50369054	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3652894	50369054	147653376	56	2979										
HESX1	8820	genome.wustl.edu	37	chr3	57232436	57232436	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tacctggattctgtcttcctCtagattcaatttttgagcta	6	9	4	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:57232436C>G	ENST00000295934.3	-	3	478	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	148					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.E148K(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CTGTCTTCCTCTAGATTCAAT	0.269																																					Esophageal Squamous(84;267 1272 9034 48993 52677)												1	Substitution - Missense(1)	skin(1)											47	50	49					3																	57232436		2199	4289	6488	SO:0001583	missense	8820			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"Homeoboxes / PRD class"	4877	protein-coding gene	gene with protein product		601802	"homeobox, ES cell expressed 1"			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.442G>C	3.37:g.57232436C>G	ENSP00000295934:p.Glu148Gln		Q52LC5|Q99667	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E148Q	ENST00000295934.3	37	c.442	CCDS2881.1	3	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208927	0.58343	.	.	ENSG00000163666	ENST00000295934	D	0.95518	-3.73	5.83	5.83	0.93111	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.065581	0.64402	D	0.000007	D	0.92586	0.7645	N	0.02830	-0.485	0.80722	D	1	D	0.59357	0.985	P	0.58266	0.836	D	0.91461	0.5189	10	0.18276	T	0.48	-18.0631	20.1197	0.97955	0.0:1.0:0.0:0.0	.	148	Q9UBX0	HESX1_HUMAN	Q	148	ENSP00000295934:E148Q	ENSP00000295934:E148Q	E	-	1	0	HESX1	57207476	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.193000	0.72075	2.747000	0.94245	0.585000	0.79938	GAG	HESX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.269	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HESX1	HGNC	protein_coding	OTTHUMT00000351430.2	C			57232436	-1	no_errors	ENST00000295934	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57232436	C	G	57232436	3	3	21	1	0	0	0	0	1	0	0	0	7092	922	32	1	123	1	HESX1	3	57232436	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	6863382	57232436	140789994	57	2980										
RG9MTD1	54931	genome.wustl.edu	37	chr3	101283864	101283864	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtgcaagaagaatgtgtttCaacaatctcaagcagtaagg	10	6	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:101283864C>T	ENST00000309922.6	+	2	393	c.239C>T	c.(238-240)tCa>tTa	p.S80L		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	80					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GAATGTGTTTCAACAATCTCA	0.418																																																	0													130	119	122					3																	101283864		1895	4121	6016	SO:0001583	missense	54931			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.239C>T	3.37:g.101283864C>T	ENSP00000312356:p.Ser80Leu		Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase	p.S80L	ENST00000309922.6	37	c.239	CCDS43122.1	3	.	.	.	.	.	.	.	.	.	.	C	5.477	0.273101	0.10349	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.52295	0.67;0.67	6.17	4.16	0.48862	.	2.419330	0.01248	N	0.008801	T	0.44973	0.1319	M	0.62723	1.935	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.45789	-0.9237	10	0.41790	T	0.15	-3.9554	1.8303	0.03129	0.2255:0.4768:0.1384:0.1593	.	80	Q7L0Y3	MRRP1_HUMAN	L	80	ENSP00000312356:S80L;ENSP00000419389:S80L	ENSP00000312356:S80L	S	+	2	0	RG9MTD1	102766554	0.000000	0.05858	0.066000	0.19879	0.089000	0.18198	0.278000	0.18753	2.941000	0.99782	0.655000	0.94253	TCA	TRMT10C	-	NULL		0.418	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	HGNC	protein_coding	OTTHUMT00000353400.2	C	NM_017819		101283864	1	no_errors	ENST00000309922	ensembl	human	known	70_37	missense	SNP	0.000	T	T	101283864	C	T	101283864	3	4	21	1	0	0	0	0	1	0	0	0	13301	838	29	1	241	1	RG9MTD1	3	101283864	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	44051428	101283864	96738566	58	2981										
SLC9A10	285335	genome.wustl.edu	37	chr3	111886195	111886195	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaatcttcaatactttgtatCtgaaagttgacagaatgcaa	6	6	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:111886195C>G	ENST00000305815.5	-	26	3490		c.e26-1		SLC9C1_ENST00000487372.1_Splice_Site	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1						cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TACTTTGTATCTGAAAGTTGA	0.308																																																	0													50	49	49					3																	111886195		2196	4284	6480	SO:0001630	splice_region_variant	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3238-1G>C	3.37:g.111886195C>G			Q6ZRP4|Q7RTP2	Splice_Site	SNP	-	e25-1	ENST00000305815.5	37	c.3238-1	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031384	0.54790	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5831	0.56401	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A10	113368885	1.000000	0.71417	0.994000	0.49952	0.850000	0.48378	3.231000	0.51294	2.698000	0.92095	0.643000	0.83706	.	SLC9C1	-	-		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	C	NM_183061	Intron	111886195	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	splice_site	SNP	0.996	G	G	111886195	C	G	111886195	5	3	21	1	0	0	0	0	0	0	1	0	14740	927	32	1	312	1	SLC9A10	3	111886195	Splice_Site	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	10602331	111886195	86136235	59	2982										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119120821	119120821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aggggatgcctcccggggctGagggtggctttgatgtgagc	19	8	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:119120821G>A	ENST00000264245.4	+	10	1754	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	408					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCCCGGGGCTGAGGGTGGCTT	0.637																																					Pancreas(7;176 297 5394 51128 51241)												0													41	51	48					3																	119120821		2007	4180	6187	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1222G>A	3.37:g.119120821G>A	ENSP00000264245:p.Glu408Lys		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E408K	ENST00000264245.4	37	c.1222	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243754	0.39697	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06528	3.29	5.48	4.61	0.57282	.	0.093814	0.46442	D	0.000289	T	0.05823	0.0152	L	0.48362	1.52	0.25271	N	0.989517	B	0.16396	0.017	B	0.14023	0.01	T	0.34725	-0.9817	10	0.22109	T	0.4	.	5.3997	0.16288	0.1544:0.1838:0.6618:0.0	.	408	Q2M1Z3	RHG31_HUMAN	K	408	ENSP00000264245:E408K	ENSP00000264245:E408K	E	+	1	0	ARHGAP31	120603511	0.964000	0.33143	0.899000	0.35326	0.951000	0.60555	1.994000	0.40757	1.540000	0.49301	0.655000	0.94253	GAG	ARHGAP31	-	NULL		0.637	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119120821	1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.456	A	A	119120821	G	A	119120821	3	1	21	1	0	0	0	0	1	0	0	0	880	1291	45	1	1260	1	ARHGAP31	3	119120821	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7234626	119120821	78901609	60	2983										
SEMA5B	54437	genome.wustl.edu	37	chr3	122645303	122645303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtggaaggcactctgcagctCgttatagtagaaggggacct	14	8	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:122645303C>T	ENST00000357599.3	-	9	1458	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E412K|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E358K|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	358	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTGCAGCTCGTTATAGTAG	0.597																																																	0													36	35	35					3																	122645303		2203	4300	6503	SO:0001583	missense	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1072G>A	3.37:g.122645303C>T	ENSP00000350215:p.Glu358Lys		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.E412K	ENST00000357599.3	37	c.1234	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.196668	0.94960	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	M	0.83012	2.62	0.80722	D	1	D;D;D	0.64830	0.992;0.994;0.994	P;D;D	0.64321	0.875;0.924;0.924	T	0.42310	-0.9459	10	0.66056	D	0.02	.	16.4032	0.83649	0.0:1.0:0.0:0.0	.	300;358;358	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	K	358;358;300;412;358	ENSP00000350215:E358K;ENSP00000195173:E358K;ENSP00000389588:E412K;ENSP00000377208:E358K	ENSP00000195173:E358K	E	-	1	0	SEMA5B	124127993	1.000000	0.71417	0.989000	0.46669	0.955000	0.61496	7.651000	0.83577	2.329000	0.79093	0.650000	0.86243	GAG	SEMA5B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.597	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	C	NM_001031702		122645303	-1	no_errors	ENST00000451055	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122645303	C	T	122645303	3	4	21	1	0	0	0	0	1	0	0	0	14068	893	31	1	2443	1	SEMA5B	3	122645303	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3524482	122645303	75377127	61	2984										
COL6A6	131873	genome.wustl.edu	37	chr3	130284200	130284200	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttgccgtgctggtgacccacCgagattcagaagacaacgtg	12	11	1	4	rs375636488		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:130284200C>T	ENST00000358511.6	+	3	1055	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.R342*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	342	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGACCCACCGAGATTCAGA	0.557																																																	0								C	stop/ARG	2,3950		0,2,1974	158	166	163		1024	-0.4	0.1	3		163	1,8297		0,1,4148	no	stop-gained	COL6A6	NM_001102608.1		0,3,6122	TT,TC,CC		0.0121,0.0506,0.0245		342/2264	130284200	3,12247	1976	4149	6125	SO:0001587	stop_gained	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1024C>T	3.37:g.130284200C>T	ENSP00000351310:p.Arg342*		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R342*	ENST00000358511.6	37	c.1024	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546356	0.65198	5.06E-4	1.21E-4	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.01	-0.405	0.12392	.	0.273852	0.31648	N	0.007296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	8.1466	0.31115	0.2514:0.5444:0.2041:0.0	.	.	.	.	X	342	.	ENSP00000351310:R342X	R	+	1	2	COL6A6	131766890	0.212000	0.23540	0.125000	0.21846	0.001000	0.01503	0.719000	0.25881	-0.234000	0.09782	-1.086000	0.02197	CGA	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	C	NM_001102608		130284200	1	no_errors	ENST00000358511	ensembl	human	known	70_37	nonsense	SNP	0.606	T	T	130284200	C	T	130284200	4	4	21	1	0	0	0	0	0	1	0	0	3708	644	23	2	1034	2	COL6A6	3	130284200	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	7638897	130284200	67738230	62	2985										
MRPS22	56945	genome.wustl.edu	37	chr3	139065764	139065764	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agaaacctacatttatggatGaggaagttcaaagcatactc	8	7	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:139065764G>A	ENST00000495075.1	+	4	649	c.217G>A	c.(217-219)Gag>Aag	p.E73K	MRPS22_ENST00000478464.1_Missense_Mutation_p.E32K|MRPS22_ENST00000310776.4_Missense_Mutation_p.E73K|MRPS22_ENST00000465056.1_Missense_Mutation_p.E72K|RP11-219D15.3_ENST00000608472.1_RNA			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	73						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTATGGATGAGGAAGTTCA	0.388																																																	0													95	91	93					3																	139065764		2203	4300	6503	SO:0001583	missense	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.217G>A	3.37:g.139065764G>A	ENSP00000418008:p.Glu73Lys		Q9H3I1	Missense_Mutation	SNP	pfam_Ribosomal_S22_mit	p.E73K	ENST00000495075.1	37	c.217	CCDS3107.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435879	0.43224	.	.	ENSG00000175110	ENST00000495075;ENST00000495225;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.42	5.42	0.78866	.	0.227437	0.47093	D	0.000243	T	0.72358	0.3450	L	0.29908	0.895	0.41499	D	0.988277	B;B;B	0.14012	0.004;0.007;0.009	B;B;B	0.17098	0.01;0.01;0.017	T	0.66093	-0.6009	10	0.07175	T	0.84	-20.4665	14.7717	0.69684	0.0:0.1443:0.8557:0.0	.	32;72;73	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	K	73;43;73;72;78;32	ENSP00000418008:E73K;ENSP00000310785:E73K;ENSP00000418233:E72K;ENSP00000419920:E78K;ENSP00000419303:E32K	ENSP00000310785:E73K	E	+	1	0	MRPS22	140548454	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.084000	0.41625	2.537000	0.85549	0.591000	0.81541	GAG	MRPS22	-	pfam_Ribosomal_S22_mit		0.388	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS22	HGNC	protein_coding	OTTHUMT00000358120.1	G	NM_020191		139065764	1	no_errors	ENST00000310776	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139065764	G	A	139065764	3	1	21	1	0	0	0	0	1	0	0	0	9856	1291	45	1	223	1	MRPS22	3	139065764	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	8781564	139065764	58956666	63	2986										
ZBTB38	253461	genome.wustl.edu	37	chr3	141162891	141162891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagtaaaaaaacagcaaatgGaggcttgaagcctagtgtct	10	7	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:141162891G>A	ENST00000514251.1	+	4	1940	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	ZBTB38_ENST00000321464.5_Missense_Mutation_p.G555E|ZBTB38_ENST00000441582.2_Missense_Mutation_p.G554E					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACAGCAAATGGAGGCTTGAAG	0.378																																																	0													55	52	53					3																	141162891		1836	4090	5926	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1661G>A	3.37:g.141162891G>A	ENSP00000426387:p.Gly554Glu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G555E	ENST00000514251.1	37	c.1664	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353351	0.82132	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.10477	3.42;2.87;2.87;2.87	5.29	5.29	0.74685	.	0.068518	0.56097	D	0.000022	T	0.30262	0.0759	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.63880	0.993;0.993	P;P	0.61722	0.858;0.893	T	0.00731	-1.1590	9	.	.	.	-23.4879	18.9347	0.92580	0.0:0.0:1.0:0.0	.	555;554	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	E	554;554;554;555	ENSP00000424254:G554E;ENSP00000426387:G554E;ENSP00000406955:G554E;ENSP00000372635:G555E	.	G	+	2	0	ZBTB38	142645581	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.489000	0.81451	2.485000	0.83878	0.650000	0.86243	GGA	ZBTB38	-	NULL		0.378	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141162891	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141162891	G	A	141162891	3	1	21	1	0	0	0	0	1	0	0	0	17569	1174	41	1	1663	1	ZBTB38	3	141162891	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2097127	141162891	56859539	64	2987										
AADACL2	344752	genome.wustl.edu	37	chr3	151458487	151458487	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tatgaagagtttatatccatGatattcaggctggattatac	8	5	1	3	rs367686762		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:151458487G>A	ENST00000356517.3	+	2	301	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	64						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTATATCCATGATATTCAGGC	0.299																																																	0													84	84	84					3																	151458487		2203	4300	6503	SO:0001583	missense	344752			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.192G>A	3.37:g.151458487G>A	ENSP00000348911:p.Met64Ile		Q5HYJ4	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.M64I	ENST00000356517.3	37	c.192	CCDS3161.2	3	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960621	0.02249	.	.	ENSG00000197953	ENST00000356517	T	0.04119	3.7	5.49	1.77	0.24775	.	0.411997	0.29205	N	0.012839	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45498	-0.9257	10	0.18710	T	0.47	-3.0295	2.2366	0.04010	0.2206:0.132:0.5113:0.1361	.	64	Q6P093	ADCL2_HUMAN	I	64	ENSP00000348911:M64I	ENSP00000348911:M64I	M	+	3	0	AADACL2	152941177	0.168000	0.22989	0.001000	0.08648	0.073000	0.16967	0.389000	0.20751	0.154000	0.19237	0.591000	0.81541	ATG	AADACL2	-	pirsf_Arylacetamide_deacetylase		0.299	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	HGNC	protein_coding	OTTHUMT00000342288.3	G	NM_207365		151458487	1	no_errors	ENST00000356517	ensembl	human	known	70_37	missense	SNP	0.014	A	A	151458487	G	A	151458487	3	1	21	1	0	0	0	0	1	0	0	0	11	1290	45	1	198	1	AADACL2	3	151458487	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	10295596	151458487	46563943	65	2988										
LRRC34	151827	genome.wustl.edu	37	chr3	169511578	169511578	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	taccacaaatggctccacatCtgtattgtctggttttagac	7	10	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:169511578C>T	ENST00000316515.7	-	10	1381	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.D353N|LRRC34_ENST00000446859.1_Missense_Mutation_p.D414N|LRRC34_ENST00000524327.1_5'Flank|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.D382N	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	369										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GGCTCCACATCTGTATTGTCT	0.323																																																	0													91	87	88					3																	169511578		2203	4300	6503	SO:0001583	missense	151827			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.1105G>A	3.37:g.169511578C>T	ENSP00000326150:p.Asp369Asn		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D414N	ENST00000316515.7	37	c.1240		3	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435381	0.62955	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	M	0.82823	2.61	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.989;0.779	P;P;B	0.62382	0.901;0.766;0.251	T	0.68788	-0.5316	10	0.35671	T	0.21	-32.1053	19.4819	0.95013	0.0:1.0:0.0:0.0	.	353;414;369	G3V115;G5E9T7;Q8IZ02	.;.;LRC34_HUMAN	N	414;369;353;382	ENSP00000414635:D414N;ENSP00000326150:D369N;ENSP00000429593:D353N;ENSP00000429278:D382N	ENSP00000326150:D369N	D	-	1	0	LRRC34	170994272	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	6.070000	0.71220	2.689000	0.91719	0.650000	0.86243	GAT	LRRC34	-	NULL		0.323	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		C	NM_153353		169511578	-1	no_errors	ENST00000446859	ensembl	human	known	70_37	missense	SNP	1.000	T	T	169511578	C	T	169511578	3	4	21	1	0	0	0	0	1	0	0	0	9012	913	32	1	158	1	LRRC34	3	169511578	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	18053091	169511578	28510852	66	2989										
FNDC3B	64778	genome.wustl.edu	37	chr3	171969135	171969135	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacaaaaaactgaaagaccgCcagatcgatcgccagaaccg	8	13	0	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:171969135C>A	ENST00000336824.4	+	6	693	c.594C>A	c.(592-594)cgC>cgA	p.R198R	FNDC3B_ENST00000415807.2_Silent_p.R198R|FNDC3B_ENST00000416957.1_Silent_p.R198R	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	198					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGAAAGACCGCCAGATCGATC	0.458																																																	0													65	67	66					3																	171969135		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.594C>A	3.37:g.171969135C>A			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R198	ENST00000336824.4	37	c.594	CCDS3217.1	3																																																																																			FNDC3B	-	NULL		0.458	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	C	NM_022763		171969135	1	no_errors	ENST00000336824	ensembl	human	known	70_37	silent	SNP	1.000	A	A	171969135	C	A	171969135	2	1	21	1	0	0	0	0	0	0	0	1	5988	726	26	4		4	FNDC3B	3	171969135	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2457557	171969135	26053295	67	2990										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	21	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6966956	178936091	19086339	68	2991										
PIK3CA	5290	genome.wustl.edu	37	chr3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcaaacaggagaagaaggatGaaacacaaaaggtgtgtgac	12	5	1	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89	78	82					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178938934	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178938934	G	A	178938934	3	1	21	1	0	0	0	0	1	0	0	0	11937	1291	45	1	2226	1	PIK3CA	3	178938934	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2843	178938934	19083496	69	2992										
CAMK2N2	94032	genome.wustl.edu	37	chr3	183977945	183977945	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgccgcccgagccggcgcgtCtacactccggacggcggctt	14	18	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:183977945C>T	ENST00000296238.3	-	2	417	c.240G>A	c.(238-240)taG>taA	p.*80*	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			gccggcgcgTCTACACTCCGG	0.766																																																	0													15	15	15					3																	183977945		2192	4294	6486	SO:0001819	synonymous_variant	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.240G>A	3.37:g.183977945C>T				Silent	SNP	NULL	p.*80	ENST00000296238.3	37	c.240	CCDS3257.1	3																																																																																			CAMK2N2	-	NULL		0.766	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2N2	HGNC	protein_coding	OTTHUMT00000346010.1	C	NM_033259		183977945	-1	no_errors	ENST00000296238	ensembl	human	known	70_37	silent	SNP	1.000	T	T	183977945	C	T	183977945	2	4	21	1	0	0	0	0	0	0	0	1	2609	924	32	1		1	CAMK2N2	3	183977945	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5039011	183977945	14044485	70	2993										
ECE2	9718	genome.wustl.edu	37	chr3	183996310	183996310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgggctctttctgccctctCgggattactacttaaacaga	8	12	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:183996310C>T	ENST00000402825.3	+	7	1135	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	ECE2_ENST00000357474.5_Missense_Mutation_p.R307W|ECE2_ENST00000359140.4_Missense_Mutation_p.R232W|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R261W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	379	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCCCTCTCGGGATTACTA	0.552																																																	0													90	86	88					3																	183996310		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1135C>T	3.37:g.183996310C>T	ENSP00000384223:p.Arg379Trp		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.R379W	ENST00000402825.3	37	c.1135	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783872	0.70222	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	4.97	4.03	0.46877	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	H	0.94542	3.55	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.994;0.998;0.991;0.999	D	0.94537	0.7741	10	0.87932	D	0	-10.0304	12.3041	0.54891	0.2464:0.7536:0.0:0.0	.	232;307;261;307;232;379	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	W	379;232;261;307;253	ENSP00000384223:R379W;ENSP00000352052:R232W;ENSP00000385846:R261W;ENSP00000350066:R307W;ENSP00000398444:R253W	ENSP00000350066:R307W	R	+	1	2	ECE2	185479004	0.075000	0.21258	1.000000	0.80357	0.995000	0.86356	0.341000	0.19909	2.596000	0.87737	0.561000	0.74099	CGG	ECE2	-	pfam_Peptidase_M13_N		0.552	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	C	NM_014693		183996310	1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183996310	C	T	183996310	3	4	21	1	0	0	0	0	1	0	0	0	4900	875	31	1	1725	1	ECE2	3	183996310	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	18365	183996310	14026120	71	2994										
THPO	7066	genome.wustl.edu	37	chr3	184090793	184090793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tttgggagctcgttcagtgtGaggactagagaggttctgct	15	6	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:184090793G>A	ENST00000204615.7	-	6	784	c.570C>T	c.(568-570)ctC>ctT	p.L190L	THPO_ENST00000421442.2_Intron|THPO_ENST00000445696.2_Silent_p.L186L|THPO_ENST00000477594.1_Intron|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	190					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTTCAGTGTGAGGACTAGAG	0.577																																																	0													82	85	84					3																	184090793		2203	4300	6503	SO:0001819	synonymous_variant	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.570C>T	3.37:g.184090793G>A			A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.L190	ENST00000204615.7	37	c.570	CCDS3265.1	3																																																																																			THPO	-	NULL		0.577	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	G	NM_000460		184090793	-1	no_errors	ENST00000204615	ensembl	human	known	70_37	silent	SNP	0.403	A	A	184090793	G	A	184090793	2	1	21	1	0	0	0	0	0	0	0	1	15902	1290	45	1		1	THPO	3	184090793	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	94483	184090793	13931637	72	2995										
DNAJB11	51726	genome.wustl.edu	37	chr3	186303135	186303135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgttcattctttcttcaggtAtcaaacagctactgaaacaa	5	9	5	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:186303135A>G	ENST00000439351.1	+	11	1944	c.1015A>G	c.(1015-1017)Atc>Gtc	p.I339V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.I339V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTCTTCAGGTATCAAACAGCT	0.328																																																	0													145	136	139					3																	186303135		2203	4300	6503	SO:0001583	missense	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.1015A>G	3.37:g.186303135A>G	ENSP00000414398:p.Ile339Val		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.I339V	ENST00000439351.1	37	c.1015	CCDS3277.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.717|2.717	-0.267375|-0.267375	0.05754|0.05754	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000439351;ENST00000265028|ENST00000418776	T;T|.	0.68479|.	-0.33;-0.33|.	6.07|6.07	2.39|2.39	0.29439|0.29439	HSP40/DnaJ peptide-binding (1);|.	0.147481|.	0.64402|.	N|.	0.000010|.	T|T	0.37156|0.37156	0.0993|0.0993	N|N	0.25060|0.25060	0.705|0.705	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.06092|0.06092	-1.0846|-1.0846	10|5	0.62326|.	D|.	0.03|.	-6.5854|-6.5854	5.1429|5.1429	0.14969|0.14969	0.6904:0.1526:0.157:0.0|0.6904:0.1526:0.157:0.0	.|.	339|.	Q9UBS4|.	DJB11_HUMAN|.	V|C	339|139	ENSP00000414398:I339V;ENSP00000265028:I339V|.	ENSP00000265028:I339V|.	I|Y	+|+	1|2	0|0	DNAJB11|DNAJB11	187785829|187785829	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.151000|0.151000	0.21798|0.21798	1.180000|1.180000	0.32005|0.32005	0.176000|0.176000	0.19873|0.19873	-0.250000|-0.250000	0.11733|0.11733	ATC|TAT	DNAJB11	-	superfamily_HSP40/DnaJ_pept-bd		0.328	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB11	HGNC	protein_coding	OTTHUMT00000344779.1	A			186303135	1	no_errors	ENST00000265028	ensembl	human	known	70_37	missense	SNP	1.000	G	G	186303135	A	G	186303135	3	3	21	1	0	0	0	0	1	0	0	0	4626	449	16	5	1053	5	DNAJB11	3	186303135	Missense_Mutation	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	2212342	186303135	11719295	73	2996										
TP63	8626	genome.wustl.edu	37	chr3	189586422	189586422	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccggatctgtgcttgcccagGaagagacaggaaggcggatg	16	9	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr3:189586422G>C	ENST00000264731.3	+	8	1135	c.1046G>C	c.(1045-1047)gGa>gCa	p.G349A	TP63_ENST00000392463.2_Missense_Mutation_p.G255A|TP63_ENST00000440651.2_Missense_Mutation_p.G349A|TP63_ENST00000392461.3_Missense_Mutation_p.G255A|TP63_ENST00000449992.1_Missense_Mutation_p.G170A|TP63_ENST00000456148.1_Missense_Mutation_p.G255A|TP63_ENST00000418709.2_Missense_Mutation_p.G349A|TP63_ENST00000320472.5_Missense_Mutation_p.G349A|TP63_ENST00000437221.1_Missense_Mutation_p.G255A|TP63_ENST00000382063.4_Missense_Mutation_p.G264A|TP63_ENST00000392460.3_Missense_Mutation_p.G349A|TP63_ENST00000354600.5_Missense_Mutation_p.G255A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	349					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTTGCCCAGGAAGAGACAGG	0.488										HNSCC(45;0.13)																																							0			GRCh37	CM083196	TP63	M							81	80	80					3																	189586422		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1046G>C	3.37:g.189586422G>C	ENSP00000264731:p.Gly349Ala		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G349A	ENST00000264731.3	37	c.1046	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091013	0.76756	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99893	-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57	5.83	5.83	0.93111	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.65815	0.994;0.967;0.994;0.988;0.994;0.988;0.991;0.988;0.995;0.988	D;P;D;D;D;D;D;D;D;D	0.73380	0.966;0.896;0.966;0.917;0.966;0.917;0.933;0.938;0.98;0.917	D	0.97092	0.9791	9	.	.	.	-6.1229	19.1141	0.93331	0.0:0.0:1.0:0.0	.	170;349;349;255;255;255;255;349;349;349	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	A	349;349;349;349;349;264;255;255;255;255;170;255	ENSP00000264731:G349A;ENSP00000407144:G349A;ENSP00000317510:G349A;ENSP00000376253:G349A;ENSP00000394337:G349A;ENSP00000371495:G264A;ENSP00000346614:G255A;ENSP00000392488:G255A;ENSP00000376256:G255A;ENSP00000376254:G255A;ENSP00000387839:G170A;ENSP00000389485:G255A	.	G	+	2	0	TP63	191069116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	GGA	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.488	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	G	NM_003722		189586422	1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	189586422	G	C	189586422	3	2	21	1	0	0	0	0	1	0	0	0	16423	1174	41	1	1122	1	TP63	3	189586422	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	3283287	189586422	8436008	74	2997										
FGFR3	2261	genome.wustl.edu	37	chr4	1807849	1807849	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtgatgaagatcgcagacttCgggctggcccgggacgtgca	16	10	0	4	rs104886005		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr4:1807849C>T	ENST00000260795.2	+	13	2010	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	FGFR3_ENST00000440486.2_Silent_p.F636F|FGFR3_ENST00000412135.2_Silent_p.F524F|FGFR3_ENST00000340107.4_Silent_p.F638F|FGFR3_ENST00000481110.2_Silent_p.F637F|FGFR3_ENST00000352904.1_Silent_p.F524F			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.F636L(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TCGCAGACTTCGGGCTGGCCC	0.647		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	1	Substitution - Missense(1)	soft_tissue(1)											42	42	42					4																	1807849		2202	4300	6502	SO:0001819	synonymous_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1908C>T	4.37:g.1807849C>T			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F638	ENST00000260795.2	37	c.1914	CCDS3353.1	4																																																																																			FGFR3	-	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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2	C	NM_000142		1807849	1	no_errors	ENST00000340107	ensembl	human	known	70_37	silent	SNP	0.992	T	T	1807849	C	T	1807849	2	4	21	1	0	0	0	0	0	0	0	1	5885	883	31	1		1	FGFR3	4	1807849	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		1807849	189346427	75	2998										
TBC1D14	57533	genome.wustl.edu	37	chr4	6995933	6995933	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atatgaagacaaggctggaaGacctagcaagccaccctctc	9	12	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr4:6995933G>A	ENST00000409757.4	+	4	990	c.866G>A	c.(865-867)aGa>aAa	p.R289K	TBC1D14_ENST00000451522.2_Missense_Mutation_p.R9K|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R61K|RN7SKP292_ENST00000365522.1_RNA|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R289K|AC097382.5_ENST00000441093.1_RNA	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	289					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						aaggctggaagacctagCAAG	0.473																																																	0													135	123	127					4																	6995933		2203	4300	6503	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.866G>A	4.37:g.6995933G>A	ENSP00000386921:p.Arg289Lys		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R289K	ENST00000409757.4	37	c.866	CCDS3394.2	4	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932514	0.52866	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522	T;T;T;T	0.56776	0.44;0.44;0.44;3.59	5.43	4.58	0.56647	.	0.277656	0.36002	N	0.002847	T	0.41789	0.1174	L	0.55834	1.745	0.80722	D	1	B;B	0.22683	0.004;0.073	B;B	0.16722	0.009;0.016	T	0.29549	-1.0008	10	0.02654	T	1	-4.9917	11.5323	0.50618	0.0849:0.0:0.9151:0.0	.	9;289	Q9P2M4-2;Q9P2M4	.;TBC14_HUMAN	K	289;289;61;9	ENSP00000404041:R289K;ENSP00000386921:R289K;ENSP00000386343:R61K;ENSP00000388886:R9K	ENSP00000386921:R289K	R	+	2	0	TBC1D14	7046834	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.799000	0.47892	1.527000	0.49086	0.655000	0.94253	AGA	TBC1D14	-	NULL		0.473	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	G	NM_020773		6995933	1	no_errors	ENST00000409757	ensembl	human	known	70_37	missense	SNP	0.999	A	A	6995933	G	A	6995933	3	1	21	1	0	0	0	0	1	0	0	0	15633	942	33	1	883	1	TBC1D14	4	6995933	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5188084	6995933	184158343	76	2999										
IL8	3576	genome.wustl.edu	37	chr4	74607697	74607697	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgatggaagagagctctgtCtggaccccaaggaaaactgg	13	9	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr4:74607697C>A	ENST00000307407.3	+	3	385	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	IL8_ENST00000401931.1_Missense_Mutation_p.L78M	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		78					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		AGAGCTCTGTCTGGACCCCAA	0.328																																																	0													58	68	65					4																	74607697		2198	4297	6495	SO:0001583	missense	3576																														ENST00000307407.3:c.232C>A	4.37:g.74607697C>A	ENSP00000306512:p.Leu78Met		B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.L78M	ENST00000307407.3	37	c.232	CCDS34005.1	4	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308595	0.60305	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.06449	3.3;3.3	5.27	3.44	0.39384	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	.	.	.	0.37227	D	0.905508	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01982	-1.1235	9	0.87932	D	0	-14.5585	7.5334	0.27695	0.0:0.7182:0.0:0.2818	.	78;78	C9J4T6;P10145	.;IL8_HUMAN	M	78	ENSP00000306512:L78M;ENSP00000385908:L78M	ENSP00000306512:L78M	L	+	1	2	IL8	74826561	1.000000	0.71417	0.977000	0.42913	0.892000	0.51952	1.733000	0.38156	0.637000	0.30526	0.650000	0.86243	CTG	IL8	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC		0.328	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL8	HGNC	protein_coding	OTTHUMT00000322211.1	C			74607697	1	no_errors	ENST00000307407	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74607697	C	A	74607697	3	1	21	1	0	0	0	0	1	0	0	0	7726	912	32	3	242	3	IL8	4	74607697	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	67611764	74607697	116546579	77	3000										
FRAS1	80144	genome.wustl.edu	37	chr4	79420968	79420968	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gaacatcaaggtgatccgcaGaggggatcagaacaggacct	13	9	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr4:79420968G>C	ENST00000264895.6	+	61	9649	c.9209G>C	c.(9208-9210)aGa>aCa	p.R3070T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3066	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGATCCGCAGAGGGGATCAG	0.552																																																	0													128	126	126					4																	79420968		1980	4173	6153	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9209G>C	4.37:g.79420968G>C	ENSP00000264895:p.Arg3070Thr		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.R3070T	ENST00000264895.6	37	c.9209	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.04|10.04	1.240225|1.240225	0.22711|0.22711	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.29397	.|1.57	5.91|5.91	5.06|5.06	0.68205|0.68205	.|.	.|0.150455	.|0.56097	.|D	.|0.000029	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31879	.|0.095;0.344	.|B;B	.|0.34301	.|0.112;0.179	T|T	0.13255|0.13255	-1.0516|-1.0516	5|10	.|0.26408	.|T	.|0.33	.|.	11.619|11.619	0.51106|0.51106	0.1364:0.0:0.8636:0.0|0.1364:0.0:0.8636:0.0	.|.	.|3069;3070	.|Q86XX4-2;E9PHH6	.|.;.	H|T	1298|3070	.|ENSP00000264895:R3070T	.|ENSP00000264895:R3070T	Q|R	+|+	3|2	2|0	FRAS1|FRAS1	79639992|79639992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.900000|2.900000	0.48687|0.48687	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	CAG|AGA	FRAS1	-	pfam_Calx_beta,smart_Calx_beta		0.552	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79420968	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79420968	G	C	79420968	3	2	21	1	0	0	0	0	1	0	0	0	6060	942	33	1	9526	1	FRAS1	4	79420968	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	4813271	79420968	111733308	78	3001										
LARP1B	55132	genome.wustl.edu	37	chr4	129100652	129100652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttccagagaccgtgggccagGaacatcctctgtcaggtact	11	12	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr4:129100652G>C	ENST00000326639.6	+	15	2199	c.1988G>C	c.(1987-1989)gGa>gCa	p.G663A	LARP1B_ENST00000354456.3_Missense_Mutation_p.G82A|LARP1B_ENST00000441387.1_Missense_Mutation_p.G663A|LARP1B_ENST00000264584.5_Missense_Mutation_p.G604A|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	663						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CGTGGGCCAGGAACATCCTCT	0.363																																																	0													141	148	146					4																	129100652		2203	4300	6503	SO:0001583	missense	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1988G>C	4.37:g.129100652G>C	ENSP00000321997:p.Gly663Ala		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.G663A	ENST00000326639.6	37	c.1988	CCDS3738.1	4	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462173	0.26248	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	T;T;T;T	0.39787	2.05;2.07;2.06;1.06	4.3	4.3	0.51218	.	0.000000	0.85682	U	0.000000	T	0.22126	0.0533	N	0.02539	-0.55	0.26720	N	0.970799	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.22591	-1.0212	10	0.51188	T	0.08	.	16.9725	0.86304	0.0:0.0:1.0:0.0	.	82;663	Q659C4-5;Q659C4	.;LAR1B_HUMAN	A	663;604;663;82	ENSP00000321997:G663A;ENSP00000264584:G604A;ENSP00000396521:G663A;ENSP00000346444:G82A	ENSP00000264584:G604A	G	+	2	0	LARP1B	129320102	1.000000	0.71417	0.955000	0.39395	0.003000	0.03518	6.651000	0.74372	2.217000	0.71921	0.467000	0.42956	GGA	LARP1B	-	NULL		0.363	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	G	NM_018078		129100652	1	no_errors	ENST00000326639	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129100652	G	C	129100652	3	2	21	1	0	0	0	0	1	0	0	0	8649	1174	41	1	2172	1	LARP1B	4	129100652	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	49679684	129100652	62053624	79	3002										
KIAA0922	23240	genome.wustl.edu	37	chr4	154513680	154513680	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggccggtctccttgcagctCctgcctctctccttgtaccc	8	18	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr4:154513680C>G	ENST00000409663.3	+	18	1915	c.1863C>G	c.(1861-1863)ctC>ctG	p.L621L	KIAA0922_ENST00000440693.1_Intron|KIAA0922_ENST00000409959.3_Silent_p.L622L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	621						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCTTGCAGCTCCTGCCTCTCT	0.507																																																	0													142	123	130					4																	154513680		2203	4300	6503	SO:0001819	synonymous_variant	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1863C>G	4.37:g.154513680C>G			B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	pfam_DUF3651_TMEM131	p.L622	ENST00000409663.3	37	c.1866	CCDS3783.2	4																																																																																			KIAA0922	-	NULL		0.507	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	C	NM_015196		154513680	1	no_errors	ENST00000409959	ensembl	human	known	70_37	silent	SNP	0.978	G	G	154513680	C	G	154513680	2	3	21	1	0	0	0	0	0	0	0	1	8221	842	30	1		1	KIAA0922	4	154513680	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	25413028	154513680	36640596	80	3003										
SDHA	6389	genome.wustl.edu	37	chr5	224502	224502	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctcagtatccagtagtggatCatgaatttgatgcagtggtg	12	6	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:224502C>T	ENST00000264932.6	+	3	293	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	SDHA_ENST00000504309.1_Missense_Mutation_p.H60Y|SDHA_ENST00000510361.1_Missense_Mutation_p.H60Y	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	60					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGTAGTGGATCATGAATTTGA	0.453									Familial Paragangliomas																																								0													112	139	130					5																	224502		2203	4297	6500	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.178C>T	5.37:g.224502C>T	ENSP00000264932:p.His60Tyr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.H60Y	ENST00000264932.6	37	c.178	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	c	26.9	4.782095	0.90282	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.63255	-0.03;-0.03;-0.03	5.35	5.35	0.76521	.	0.000000	0.85682	U	0.000000	T	0.79387	0.4437	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.989;0.989;0.989;0.989	T	0.81362	-0.0967	10	0.87932	D	0	.	16.979	0.86322	0.0:1.0:0.0:0.0	.	60;60;60;60;66	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Y	60	ENSP00000264932:H60Y;ENSP00000426514:H60Y;ENSP00000427703:H60Y	ENSP00000264932:H60Y	H	+	1	0	SDHA	277502	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.447000	0.80620	2.684000	0.91462	0.539000	0.68188	CAT	SDHA	-	tigrfam_Succ_DH_flav_su_fwd		0.453	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	C	NM_004168		224502	1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	T	T	224502	C	T	224502	3	4	21	1	0	0	0	0	1	0	0	0	13993	826	29	1	188	1	SDHA	5	224502	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		224502	180690758	81	3004										
TTC23L	153657	genome.wustl.edu	37	chr5	34845686	34845686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagaggaaactaaagctaaaGagaaggagaaggccatagac	12	5	0	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:34845686G>C	ENST00000505624.1	+	3	266	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	55										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TAAAGCTAAAGAGAAGGAGAA	0.448																																																	0													108	103	104					5																	34845686		1890	4109	5999	SO:0001583	missense	153657				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.163G>C	5.37:g.34845686G>C	ENSP00000422188:p.Glu55Gln		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.E55Q	ENST00000505624.1	37	c.163	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	G	7.747	0.702450	0.15172	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.12147	2.71	3.6	-0.531	0.11894	.	2.146490	0.02016	N	0.047363	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.29037	0.231	B	0.28232	0.087	T	0.27020	-1.0086	10	0.27785	T	0.31	-0.3493	6.1468	0.20291	0.59:0.0:0.41:0.0	.	55	Q6PF05	TT23L_HUMAN	Q	55	ENSP00000422188:E55Q	ENSP00000425242:E55Q	E	+	1	0	TTC23L	34881443	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.262000	0.08682	-0.026000	0.13895	0.650000	0.86243	GAG	TTC23L	-	NULL		0.448	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	G	NM_144725		34845686	1	no_errors	ENST00000505624	ensembl	human	known	70_37	missense	SNP	0.000	C	C	34845686	G	C	34845686	3	2	21	1	0	0	0	0	1	0	0	0	16722	943	33	1	169	1	TTC23L	5	34845686	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	34621184	34845686	146069574	82	3005										
MIER3	166968	genome.wustl.edu	37	chr5	56219369	56219369	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagctatcatccaaacaattCacatctgtggggtcgcagac	8	11	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:56219369C>T	ENST00000381199.3	-	13	1249	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V	SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381226.3_Silent_p.V418V|MIER3_ENST00000409421.1_Silent_p.V350V|MIER3_ENST00000381213.3_Silent_p.V412V			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CCAAACAATTCACATCTGTGG	0.458																																																	0													52	54	53					5																	56219369		2203	4300	6503	SO:0001819	synonymous_variant	166968			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1239G>A	5.37:g.56219369C>T			B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.V413	ENST00000381199.3	37	c.1239		5																																																																																			MIER3	-	NULL		0.458	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	HGNC	protein_coding	OTTHUMT00000132523.2	C	NM_152622		56219369	-1	no_errors	ENST00000381199	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56219369	C	T	56219369	2	4	21	1	0	0	0	0	0	0	0	1	9605	813	29	1		1	MIER3	5	56219369	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	21373683	56219369	124695891	83	3006										
NLN	57486	genome.wustl.edu	37	chr5	65077185	65077185	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cactatttccctgtcatgaaGaaatgttgtatccctgaaac	6	10	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:65077185G>A	ENST00000380985.5	+	6	937	c.759G>A	c.(757-759)aaG>aaA	p.K253K	NLN_ENST00000502464.1_Silent_p.K149K	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	253						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTGTCATGAAGAAATGTTGTA	0.333																																																	0													105	105	105					5																	65077185		2203	4299	6502	SO:0001819	synonymous_variant	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.759G>A	5.37:g.65077185G>A			Q9ULJ4	Silent	SNP	pfam_Pept_M3A_M3B	p.K253	ENST00000380985.5	37	c.759	CCDS3989.1	5																																																																																			NLN	-	pfam_Pept_M3A_M3B		0.333	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65077185	1	no_errors	ENST00000380985	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65077185	G	A	65077185	2	1	21	1	0	0	0	0	0	0	0	1	10491	933	33	1		1	NLN	5	65077185	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	8857816	65077185	115838075	84	3007										
BDP1	55814	genome.wustl.edu	37	chr5	70800496	70800496	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtaaagattttgaagaggaaGatgtcatattacagcctgag	11	4	1	5			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:70800496G>T	ENST00000358731.4	+	16	2553	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	764					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGAAGAGGAAGATGTCATATT	0.343																																																	0													96	88	90					5																	70800496		1840	4090	5930	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2290G>T	5.37:g.70800496G>T	ENSP00000351575:p.Asp764Tyr		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.D764Y	ENST00000358731.4	37	c.2290	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	9.879	1.201024	0.22121	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.14266	2.52	4.92	2.13	0.27403	.	0.397130	0.24048	N	0.042036	T	0.27731	0.0682	L	0.60455	1.87	0.18873	N	0.999985	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.982;0.998;0.964	T	0.02020	-1.1228	10	0.72032	D	0.01	.	6.8838	0.24189	0.2936:0.0:0.7064:0.0	.	764;764;764	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Y	764;764;344;764	ENSP00000351575:D764Y	ENSP00000351575:D764Y	D	+	1	0	BDP1	70836252	0.986000	0.35501	0.083000	0.20561	0.052000	0.14988	1.113000	0.31184	0.693000	0.31634	0.650000	0.86243	GAT	BDP1	-	NULL		0.343	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70800496	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.037	T	T	70800496	G	T	70800496	3	4	21	1	0	0	0	0	1	0	0	0	1396	942	33	3	2352	3	BDP1	5	70800496	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5723311	70800496	110114764	85	3008										
FTMT	94033	genome.wustl.edu	37	chr5	121187814	121187814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgccgccccctggccgcagcCgcctcctcccgggaccctac	10	24	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:121187814C>T	ENST00000321339.1	+	1	165	c.156C>T	c.(154-156)gcC>gcT	p.A52A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	52					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGCCGCAGCCGCCTCCTCCC	0.771																																																	0													6	8	8					5																	121187814		2092	4126	6218	SO:0001819	synonymous_variant	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.156C>T	5.37:g.121187814C>T				Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.A52	ENST00000321339.1	37	c.156	CCDS4128.1	5																																																																																			FTMT	-	NULL		0.771	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	C	NM_177478		121187814	1	no_errors	ENST00000321339	ensembl	human	known	70_37	silent	SNP	0.000	T	T	121187814	C	T	121187814	2	4	21	1	0	0	0	0	0	0	0	1	6103	639	23	2		2	FTMT	5	121187814	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	50387318	121187814	59727446	86	3009										
PCDHGA8	9708	genome.wustl.edu	37	chr5	140774125	140774125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggagctggcgccccgctccgCagagcgtggctacctggtga	16	14	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:140774125C>A	ENST00000398604.2	+	1	1745	c.1745C>A	c.(1744-1746)gCa>gAa	p.A582E	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCTCCGCAGAGCGTGGC	0.677																																																	0													74	86	82					5																	140774125		2201	4299	6500	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1745C>A	5.37:g.140774125C>A	ENSP00000381605:p.Ala582Glu		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A582E	ENST00000398604.2	37	c.1745	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	20.1	3.941059	0.73557	.	.	ENSG00000253767	ENST00000398604	T	0.17213	2.29	5.06	5.06	0.68205	Cadherin (2);Cadherin-like (1);	0.000000	0.30989	U	0.008464	T	0.51210	0.1661	M	0.89785	3.06	0.40674	D	0.982248	D;D	0.76494	0.999;0.995	D;D	0.76071	0.987;0.962	T	0.64084	-0.6490	10	0.87932	D	0	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	582;582	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	E	582	ENSP00000381605:A582E	ENSP00000381605:A582E	A	+	2	0	PCDHGA8	140754309	1.000000	0.71417	0.929000	0.37066	0.594000	0.36715	5.671000	0.68095	2.366000	0.80165	0.655000	0.94253	GCA	PCDHGA8	-	superfamily_Cadherin-like,pfscan_Cadherin		0.677	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140774125	1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	0.998	A	A	140774125	C	A	140774125	3	1	21	1	0	0	0	0	1	0	0	0	11584	710	25	4	1747	4	PCDHGA8	5	140774125	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	19586311	140774125	40141135	87	3010										
PCDHGA12	26025	genome.wustl.edu	37	chr5	140811189	140811189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccggtatgtggacgacaaggCggcccaagttttcaaactag	12	10	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:140811189C>T	ENST00000252085.3	+	1	1005	c.863C>T	c.(862-864)gCg>gTg	p.A288V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGACAAGGCGGCCCAAGTT	0.512																																																	0													93	94	94					5																	140811189		2203	4300	6503	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.863C>T	5.37:g.140811189C>T	ENSP00000252085:p.Ala288Val		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A288V	ENST00000252085.3	37	c.863	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	c	0.368	-0.935396	0.02340	.	.	ENSG00000253159	ENST00000252085	T	0.01584	4.75	5.09	4.19	0.49359	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01124	0.0037	N	0.04686	-0.185	0.09310	N	1	B;B	0.19935	0.04;0.012	B;B	0.14023	0.006;0.01	T	0.41088	-0.9528	9	0.02654	T	1	.	14.3015	0.66355	0.1498:0.8502:0.0:0.0	.	288;288	O60330-2;O60330	.;PCDGC_HUMAN	V	288	ENSP00000252085:A288V	ENSP00000252085:A288V	A	+	2	0	PCDHGA12	140791373	0.007000	0.16637	0.193000	0.23327	0.894000	0.52154	1.171000	0.31896	1.303000	0.44873	0.655000	0.94253	GCG	PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	C	NM_003735		140811189	1	no_errors	ENST00000252085	ensembl	human	known	70_37	missense	SNP	0.001	T	T	140811189	C	T	140811189	3	4	21	1	0	0	0	0	1	0	0	0	11577	768	27	2	865	2	PCDHGA12	5	140811189	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	37064	140811189	40104071	88	3011										
GRIA1	2890	genome.wustl.edu	37	chr5	153144153	153144153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagcagacagaaattgcctaCgggacgctggaagcaggatc	13	9	0	2	rs149931571		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:153144153C>T	ENST00000285900.5	+	12	2326	c.1983C>T	c.(1981-1983)taC>taT	p.Y661Y	GRIA1_ENST00000521843.2_Silent_p.Y592Y|GRIA1_ENST00000448073.4_Silent_p.Y671Y|GRIA1_ENST00000518783.1_Silent_p.Y671Y|GRIA1_ENST00000340592.5_Silent_p.Y661Y|GRIA1_ENST00000518142.1_Silent_p.Y581Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	661					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AAATTGCCTACGGGACGCTGG	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		21138	0		0	False		,,,				2504	0																0								C	,	4,4402	8.1+/-20.4	0,4,2199	103	86	92		1983,1983	-10.5	0.1	5	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	661/907,661/907	153144153	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1983C>T	5.37:g.153144153C>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y671	ENST00000285900.5	37	c.2013	CCDS4322.1	5																																																																																			GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	C			153144153	1	no_errors	ENST00000448073	ensembl	human	known	70_37	silent	SNP	0.528	T	T	153144153	C	T	153144153	2	4	21	1	0	0	0	0	0	0	0	1	6787	547	19	2		2	GRIA1	5	153144153	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	12332964	153144153	27771107	89	3012										
CPEB4	80315	genome.wustl.edu	37	chr5	173317425	173317425	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcctcagatcgggcctctctCacagcaccacccacatcacc	5	20	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:173317425C>G	ENST00000265085.5	+	1	2143	c.689C>G	c.(688-690)tCa>tGa	p.S230*	CPEB4_ENST00000520867.1_Nonsense_Mutation_p.S230*|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000519835.1_Nonsense_Mutation_p.S230*|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.S230*|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	230					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGCCTCTCTCACAGCACCAC	0.552																																																	0													119	127	124					5																	173317425		2203	4300	6503	SO:0001587	stop_gained	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.689C>G	5.37:g.173317425C>G	ENSP00000265085:p.Ser230*		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S230*	ENST00000265085.5	37	c.689	CCDS4390.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.846430	0.97881	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.9914	18.6455	0.91409	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	ENSP00000265085:S230X	S	+	2	0	CPEB4	173250031	1.000000	0.71417	0.498000	0.27564	0.888000	0.51559	7.818000	0.86416	2.500000	0.84329	0.563000	0.77884	TCA	CPEB4	-	NULL		0.552	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	C	NM_030627		173317425	1	no_errors	ENST00000265085	ensembl	human	known	70_37	nonsense	SNP	0.956	G	G	173317425	C	G	173317425	4	3	21	1	0	0	0	0	0	1	0	0	3808	838	29	1	691	1	CPEB4	5	173317425	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	20173272	173317425	7597835	90	3013										
FAF2	23197	genome.wustl.edu	37	chr5	175906255	175906255	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aacagcataactggaacataGaggtataataggatgtgttc	10	5	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr5:175906255G>C	ENST00000261942.6	+	2	183	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	44	UBA.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTGGAACATAGAGGTATAATA	0.378																																																	0													183	161	169					5																	175906255		2203	4300	6503	SO:0001583	missense	23197			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.130G>C	5.37:g.175906255G>C	ENSP00000261942:p.Glu44Gln		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX	p.E44Q	ENST00000261942.6	37	c.130	CCDS34296.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987117	0.93106	.	.	ENSG00000113194	ENST00000510730;ENST00000261942;ENST00000540174	.	.	.	5.11	5.11	0.69529	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67213	-0.5727	9	0.24483	T	0.36	-15.7766	18.9221	0.92529	0.0:0.0:1.0:0.0	.	44	Q96CS3	FAF2_HUMAN	Q	24;44;44	.	ENSP00000261942:E44Q	E	+	1	0	FAF2	175838861	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.776000	0.91776	2.520000	0.84964	0.650000	0.86243	GAG	FAF2	-	superfamily_UBA-like		0.378	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF2	HGNC	protein_coding	OTTHUMT00000372194.1	G	NM_014613		175906255	1	no_errors	ENST00000261942	ensembl	human	known	70_37	missense	SNP	1.000	C	C	175906255	G	C	175906255	3	2	21	1	0	0	0	0	1	0	0	0	5385	943	33	1	136	1	FAF2	5	175906255	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2588830	175906255	5009005	91	3014										
GCNT2	2651	genome.wustl.edu	37	chr6	10621627	10621627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcatcctggactggaaacctCagagctataaagtggagtga	12	8	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:10621627C>T	ENST00000379597.3	+	2	1525	c.969C>T	c.(967-969)ctC>ctT	p.L323L	GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Silent_p.L37L|GCNT2_ENST00000316170.3_Silent_p.L321L|GCNT2_ENST00000265012.4_Silent_p.L323L|GCNT2_ENST00000495262.1_Silent_p.L323L			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	323					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGGAAACCTCAGAGCTATAA	0.507																																																	0													95	82	86					6																	10621627		2203	4300	6503	SO:0001819	synonymous_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.969C>T	6.37:g.10621627C>T				Silent	SNP	pfam_Glyco_trans_14	p.L323	ENST00000379597.3	37	c.969	CCDS34338.1	6																																																																																			GCNT2	-	pfam_Glyco_trans_14		0.507	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	C	NM_145649		10621627	1	no_errors	ENST00000265012	ensembl	human	known	70_37	silent	SNP	0.871	T	T	10621627	C	T	10621627	2	4	21	1	0	0	0	0	0	0	0	1	6320	813	29	1		1	GCNT2	6	10621627	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		10621627	160493440	92	3015										
BAT2	7916	genome.wustl.edu	37	chr6	31600193	31600193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaggaggcgacatgggagggCtcagcagcaggataaaccgc	16	9	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:31600193C>T	ENST00000376033.2	+	16	3977	c.3743C>T	c.(3742-3744)gCt>gTt	p.A1248V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A1248V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1248	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CATGGGAGGGCTCAGCAGCAG	0.647																																																	0													74	77	76					6																	31600193		1511	2709	4220	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3743C>T	6.37:g.31600193C>T	ENSP00000365201:p.Ala1248Val		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.A1248V	ENST00000376033.2	37	c.3743	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943978	0.34283	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01871	4.59;4.59	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000029	T	0.01320	0.0043	L	0.36672	1.1	0.35627	D	0.809875	P	0.35844	0.524	B	0.28849	0.095	T	0.56786	-0.7921	10	0.87932	D	0	-12.1398	17.8014	0.88589	0.0:1.0:0.0:0.0	.	1248	P48634	PRC2A_HUMAN	V	1242;1231;1248;1248;473	ENSP00000365175:A1248V;ENSP00000365201:A1248V	ENSP00000365175:A1248V	A	+	2	0	PRRC2A	31708172	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	4.118000	0.57884	2.735000	0.93741	0.655000	0.94253	GCT	PRRC2A	-	NULL		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	C	NM_080686		31600193	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31600193	C	T	31600193	3	4	21	1	0	0	0	0	1	0	0	0	1320	797	28	4	3801	4	BAT2	6	31600193	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	20978566	31600193	139514874	93	3016										
EHMT2	10919	genome.wustl.edu	37	chr6	31848475	31848475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctcctccccagtccggatgtCtcgggaactgaagaaggcga	12	13	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:31848475C>G	ENST00000375537.4	-	27	3433	c.3427G>C	c.(3427-3429)Gac>Cac	p.D1143H	SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.D1200H|EHMT2_ENST00000375528.4_Missense_Mutation_p.D1166H|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.D1109H	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1143	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTCCGGATGTCTCGGGAACTG	0.592																																																	0													86	83	84					6																	31848475		2203	4300	6503	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3427G>C	6.37:g.31848475C>G	ENSP00000364687:p.Asp1143His		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.D1200H	ENST00000375537.4	37	c.3598	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965908	0.74131	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	4.21	4.21	0.49690	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	L	0.58810	1.83	0.80722	D	1	B;B;B;P	0.36495	0.057;0.078;0.127;0.556	B;B;B;B	0.39419	0.049;0.068;0.173;0.299	D	0.87812	0.2632	10	0.35671	T	0.21	.	15.8428	0.78864	0.0:1.0:0.0:0.0	.	1166;1109;1143;964	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	1200;1166;1109;1143;964	ENSP00000379078:D1200H;ENSP00000364678:D1166H;ENSP00000364680:D1109H;ENSP00000364687:D1143H	ENSP00000364678:D1166H	D	-	1	0	EHMT2	31956454	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.718000	0.54919	2.355000	0.79922	0.561000	0.74099	GAC	EHMT2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.592	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	C	NM_006709		31848475	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31848475	C	G	31848475	3	3	21	1	0	0	0	0	1	0	0	0	4994	913	32	1	213	1	EHMT2	6	31848475	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	248282	31848475	139266592	94	3017										
B3GALT4	8705	genome.wustl.edu	37	chr6	33246092	33246092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctttgtgggggtaagtgcccGacgaggaggcctcgccccaa	15	12	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:33246092G>A	ENST00000451237.1	+	1	1176	c.896G>A	c.(895-897)cGa>cAa	p.R299Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	299					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GTAAGTGCCCGACGAGGAGGC	0.607																																																	0													67	68	68					6																	33246092		2203	4300	6503	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.896G>A	6.37:g.33246092G>A	ENSP00000390784:p.Arg299Gln			Missense_Mutation	SNP	pfam_Glyco_trans_31	p.R299Q	ENST00000451237.1	37	c.896	CCDS34425.1	6	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363840	0.41902	.	.	ENSG00000235863	ENST00000451237	T	0.42900	0.96	4.55	1.49	0.22878	.	0.330908	0.25004	N	0.033888	T	0.08358	0.0208	L	0.27975	0.815	0.09310	N	1	P	0.47962	0.903	B	0.41135	0.348	T	0.21793	-1.0235	10	0.08179	T	0.78	.	5.4271	0.16431	0.1875:0.0:0.6445:0.168	.	299	O96024	B3GT4_HUMAN	Q	299	ENSP00000390784:R299Q	ENSP00000390784:R299Q	R	+	2	0	B3GALT4	33354070	0.013000	0.17824	0.152000	0.22495	0.962000	0.63368	1.086000	0.30853	0.522000	0.28464	0.643000	0.83706	CGA	B3GALT4	-	pfam_Glyco_trans_31		0.607	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	G			33246092	1	no_errors	ENST00000451237	ensembl	human	known	70_37	missense	SNP	0.184	A	A	33246092	G	A	33246092	3	1	21	1	0	0	0	0	1	0	0	0	1250	1058	37	1	898	1	B3GALT4	6	33246092	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1397617	33246092	137868975	95	3018										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34802148	34802148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	actggcagcagagtgaccttCgccttacccgcatcactgac	9	15	1	3	rs556278425	byFrequency	TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:34802148C>T	ENST00000192788.5	+	5	664	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R165C	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	165							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGTGACCTTCGCCTTACCCG	0.507													C|||	2	0.000399361	0	0	5008	,	,		17006	0		0	False		,,,				2504	0.002																0													63	61	62					6																	34802148		1984	4158	6142	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.493C>T	6.37:g.34802148C>T	ENSP00000192788:p.Arg165Cys		Q9NXE0	Missense_Mutation	SNP	NULL	p.R165C	ENST00000192788.5	37	c.493	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979000	0.92982	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.12672	2.66;2.66	4.71	4.71	0.59529	.	0.059730	0.64402	D	0.000002	T	0.34890	0.0913	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33548	-0.9864	10	0.87932	D	0	-6.669	17.8472	0.88733	0.0:1.0:0.0:0.0	.	165	Q6BDS2	URFB1_HUMAN	C	165	ENSP00000192788:R165C;ENSP00000400628:R165C	ENSP00000192788:R165C	R	+	1	0	UHRF1BP1	34910126	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	5.876000	0.69667	2.450000	0.82876	0.655000	0.94253	CGC	UHRF1BP1	-	NULL		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34802148	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34802148	C	T	34802148	3	4	21	1	0	0	0	0	1	0	0	0	16999	884	31	1	511	1	UHRF1BP1	6	34802148	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	1556056	34802148	136312919	96	3019										
TMEM63B	55362	genome.wustl.edu	37	chr6	44116376	44116376	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcctatgcccctgaccctcaGaacatctactggtgagcaaa	7	14	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:44116376G>C	ENST00000259746.9	+	14	1431	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	TMEM63B_ENST00000323267.6_Missense_Mutation_p.Q416H			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	416					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGACCCTCAGAACATCTACT	0.617																																																	0													71	64	66					6																	44116376		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1248G>C	6.37:g.44116376G>C	ENSP00000259746:p.Gln416His		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.Q416H	ENST00000259746.9	37	c.1248	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.790420|1.790420	0.31685|0.31685	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.28666|.	1.6;1.6|.	4.17|4.17	3.28|3.28	0.37604|0.37604	Domain of unknown function DUF221 (1);|.	0.063724|.	0.64402|.	D|.	0.000003|.	T|T	0.27027|0.27027	0.0662|0.0662	N|N	0.22421|0.22421	0.69|0.69	0.39687|0.39687	D|D	0.97099|0.97099	B;P|.	0.40875|.	0.002;0.731|.	B;B|.	0.44224|.	0.011;0.444|.	T|T	0.05146|0.05146	-1.0903|-1.0903	10|5	0.44086|.	T|.	0.13|.	.|.	8.52|8.52	0.33270|0.33270	0.1839:0.0:0.8161:0.0|0.1839:0.0:0.8161:0.0	.|.	416;416|.	Q5T3F8;Q5T3F8-2|.	TM63B_HUMAN;.|.	H|T	416|345	ENSP00000259746:Q416H;ENSP00000327154:Q416H|.	ENSP00000259746:Q416H|.	Q|R	+|+	3|2	2|0	TMEM63B|TMEM63B	44224354|44224354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	3.181000|3.181000	0.50903|0.50903	2.172000|2.172000	0.68678|0.68678	0.467000|0.467000	0.42956|0.42956	CAG|AGA	TMEM63B	-	pfam_DUF221		0.617	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	G	XM_166410		44116376	1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44116376	G	C	44116376	3	2	21	1	0	0	0	0	1	0	0	0	16221	933	33	1	1298	1	TMEM63B	6	44116376	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	9314228	44116376	126998691	97	3020										
TDRD6	221400	genome.wustl.edu	37	chr6	46656958	46656958	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gccttcggtacttgctgcctGaatattttcgaatgccggtg	11	10	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:46656958G>C	ENST00000316081.6	+	1	1093	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E365Q|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	365	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTGCTGCCTGAATATTTTCG	0.557																																																	0													134	120	124					6																	46656958		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1093G>C	6.37:g.46656958G>C	ENSP00000346065:p.Glu365Gln		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E365Q	ENST00000316081.6	37	c.1093	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305734	0.60305	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09911	2.93;2.93	5.65	5.65	0.86999	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.272836	0.39146	N	0.001452	T	0.15955	0.0384	L	0.28458	0.855	0.40804	D	0.983365	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.03413	-1.1039	10	0.33940	T	0.23	-11.4	19.5221	0.95189	0.0:0.0:1.0:0.0	.	365;365	F5H5M3;O60522	.;TDRD6_HUMAN	Q	365	ENSP00000443299:E365Q;ENSP00000346065:E365Q	ENSP00000346065:E365Q	E	+	1	0	TDRD6	46764917	1.000000	0.71417	0.927000	0.36925	0.755000	0.42902	7.209000	0.77916	2.941000	0.99782	0.655000	0.94253	GAA	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.557	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46656958	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.998	C	C	46656958	G	C	46656958	3	2	21	1	0	0	0	0	1	0	0	0	15764	1291	45	1	1095	1	TDRD6	6	46656958	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2540582	46656958	124458109	98	3021										
MCHR2	84539	genome.wustl.edu	37	chr6	100390912	100390912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccttcgagtagacccagacaGgcaatgccaggataaaggaa	11	10	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:100390912G>A	ENST00000281806.2	-	4	814	c.500C>T	c.(499-501)cCt>cTt	p.P167L	MCHR2_ENST00000369212.2_Missense_Mutation_p.P167L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACCCAGACAGGCAATGCCAG	0.473																																																	0													152	142	145					6																	100390912		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.500C>T	6.37:g.100390912G>A	ENSP00000281806:p.Pro167Leu		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.P167L	ENST00000281806.2	37	c.500	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611009	0.87258	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.44482	0.92;0.92;0.92	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.66655	0.2811	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75241	-0.3387	10	0.87932	D	0	.	16.9597	0.86269	0.0:0.0:1.0:0.0	.	167	Q969V1	MCHR2_HUMAN	L	167	ENSP00000403490:P167L;ENSP00000281806:P167L;ENSP00000358214:P167L	ENSP00000281806:P167L	P	-	2	0	MCHR2	100497633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.152000	0.89638	2.358000	0.79984	0.655000	0.94253	CCT	MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_MCH_rcpt		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100390912	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100390912	G	A	100390912	3	1	21	1	0	0	0	0	1	0	0	0	9406	1000	35	4	534	4	MCHR2	6	100390912	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	53733954	100390912	70724155	99	3022										
LAMA2	3908	genome.wustl.edu	37	chr6	129762132	129762132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gaatgctgtggttaaagatcCttccaagaacagtaagatct	9	7	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:129762132C>G	ENST00000421865.2	+	43	6306	c.6257C>G	c.(6256-6258)cCt>cGt	p.P2086R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2086	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTAAAGATCCTTCCAAGAAC	0.418																																																	0													85	74	78					6																	129762132		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6257C>G	6.37:g.129762132C>G	ENSP00000400365:p.Pro2086Arg		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P2086R	ENST00000421865.2	37	c.6257	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770113	0.49680	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.31247	1.5	5.54	5.54	0.83059	Laminin II (1);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02852	-1.1102	10	0.16420	T	0.52	.	17.6589	0.88185	0.0:1.0:0.0:0.0	.	2086;2086	A6NF00;P24043	.;LAMA2_HUMAN	R	2086;2086;2086;105	ENSP00000400365:P2086R	ENSP00000346769:P2086R	P	+	2	0	LAMA2	129803825	1.000000	0.71417	0.997000	0.53966	0.277000	0.26821	5.441000	0.66569	2.601000	0.87937	0.655000	0.94253	CCT	LAMA2	-	pfam_Laminin_II		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129762132	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.999	G	G	129762132	C	G	129762132	3	3	21	1	0	0	0	0	1	0	0	0	8626	681	24	4	6427	4	LAMA2	6	129762132	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	29371220	129762132	41352935	100	3023										
L3MBTL3	84456	genome.wustl.edu	37	chr6	130392189	130392189	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gacaaaaagaatccctcattCatctgtgttgctacggtaac	7	10	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:130392189C>A	ENST00000529410.1	+	15	1640	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.F362L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.F387L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.F362L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.F362L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.F387L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	387					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATCCCTCATTCATCTGTGTTG	0.408																																																	0													282	268	273					6																	130392189		2203	4300	6503	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1161C>A	6.37:g.130392189C>A	ENSP00000431962:p.Phe387Leu		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.F387L	ENST00000529410.1	37	c.1161	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	C	5.667	0.307717	0.10733	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	6.17	4.39	0.52855	.	0.267787	0.45361	D	0.000373	T	0.19604	0.0471	N	0.00123	-2.06	0.42644	D	0.993429	B;B	0.21147	0.052;0.002	B;B	0.14023	0.01;0.002	T	0.47032	-0.9148	10	0.02654	T	1	.	7.1816	0.25776	0.1206:0.6869:0.0:0.1925	.	362;387	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	L	387;362;387;362;362;387	ENSP00000431962:F387L;ENSP00000437185:F362L;ENSP00000354526:F387L;ENSP00000357121:F362L;ENSP00000436706:F362L;ENSP00000357118:F387L	ENSP00000354526:F387L	F	+	3	2	L3MBTL3	130433882	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	1.686000	0.37669	0.920000	0.36970	0.655000	0.94253	TTC	L3MBTL3	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.408	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130392189	1	no_errors	ENST00000361794	ensembl	human	known	70_37	missense	SNP	0.999	A	A	130392189	C	A	130392189	3	1	21	1	0	0	0	0	1	0	0	0	8613	825	29	3	1203	3	L3MBTL3	6	130392189	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	630057	130392189	40722878	101	3024										
OLIG3	167826	genome.wustl.edu	37	chr6	137814879	137814879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcgccaaccagcctcttcatCtcctccagggagctggtgag	10	15	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:137814879C>G	ENST00000367734.2	-	1	652	c.429G>C	c.(427-429)gaG>gaC	p.E143D		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	143					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCCTCTTCATCTCCTCCAGGG	0.657																																																	0													63	58	60					6																	137814879		2203	4300	6503	SO:0001583	missense	167826			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.429G>C	6.37:g.137814879C>G	ENSP00000356708:p.Glu143Asp		Q8N8Q0	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E143D	ENST00000367734.2	37	c.429	CCDS5186.1	6	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269796	0.40095	.	.	ENSG00000177468	ENST00000367734	T	0.72615	-0.67	5.52	5.52	0.82312	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	L	0.55990	1.75	0.53005	D	0.999965	P	0.36683	0.565	B	0.40066	0.318	T	0.65047	-0.6263	10	0.51188	T	0.08	-1.777	12.7314	0.57201	0.0:0.9244:0.0:0.0756	.	143	Q7RTU3	OLIG3_HUMAN	D	143	ENSP00000356708:E143D	ENSP00000356708:E143D	E	-	3	2	OLIG3	137856572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.031000	0.57267	2.576000	0.86940	0.591000	0.81541	GAG	OLIG3	-	superfamily_HLH_dom,smart_HLH_dom		0.657	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	C	NM_175747		137814879	-1	no_errors	ENST00000367734	ensembl	human	known	70_37	missense	SNP	1.000	G	G	137814879	C	G	137814879	3	3	21	1	0	0	0	0	1	0	0	0	10886	912	32	1	393	1	OLIG3	6	137814879	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	7422690	137814879	33300188	102	3025										
STX11	8676	genome.wustl.edu	37	chr6	144508032	144508032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agcgcgacaccaactccatcGccaaggccatcaaggcccgg	10	17	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:144508032G>A	ENST00000367568.4	+	2	451	c.268G>A	c.(268-270)Gcc>Acc	p.A90T		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	90					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CAACTCCATCGCCAAGGCCAT	0.682									Familial Hemophagocytic Lymphohistiocytosis																																								0													25	26	26					6																	144508032		2202	4299	6501	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.268G>A	6.37:g.144508032G>A	ENSP00000356540:p.Ala90Thr		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A90T	ENST00000367568.4	37	c.268	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657422	0.88154	.	.	ENSG00000135604	ENST00000367568	T	0.14144	2.53	5.99	5.99	0.97316	t-SNARE (1);Syntaxin, N-terminal (2);	0.162621	0.52532	D	0.000071	T	0.09862	0.0242	L	0.59436	1.845	0.52099	D	0.999943	B	0.32507	0.373	B	0.29716	0.106	T	0.07539	-1.0767	10	0.27785	T	0.31	-25.1354	20.0881	0.97803	0.0:0.0:1.0:0.0	.	90	O75558	STX11_HUMAN	T	90	ENSP00000356540:A90T	ENSP00000356540:A90T	A	+	1	0	STX11	144549725	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.627000	0.83176	2.840000	0.97914	0.655000	0.94253	GCC	STX11	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.682	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	G			144508032	1	no_errors	ENST00000367568	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144508032	G	A	144508032	3	1	21	1	0	0	0	0	1	0	0	0	15367	1087	38	2	270	2	STX11	6	144508032	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6693153	144508032	26607035	103	3026										
FNDC1	84624	genome.wustl.edu	37	chr6	159654069	159654069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagcattgggcggggacctcGgctgcagccctccagctccc	13	17	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:159654069G>A	ENST00000297267.9	+	11	2725	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R779Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	842					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R842Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGGGACCTCGGCTGCAGCCC	0.627																																																	1	Substitution - Missense(1)	prostate(1)											22	27	25					6																	159654069		2012	4169	6181	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2525G>A	6.37:g.159654069G>A	ENSP00000297267:p.Arg842Gln		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R842Q	ENST00000297267.9	37	c.2525	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118775	0.56505	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.12255	2.7;2.81	5.06	4.17	0.49024	.	1.003210	0.08028	N	0.993063	T	0.04952	0.0133	L	0.34521	1.04	0.09310	N	1	P;P	0.51057	0.941;0.692	B;B	0.39027	0.288;0.055	T	0.14448	-1.0472	10	0.40728	T	0.16	-20.6247	11.2813	0.49197	0.0889:0.0:0.9111:0.0	.	779;842	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	Q	842;779	ENSP00000297267:R842Q;ENSP00000342460:R779Q	ENSP00000297267:R842Q	R	+	2	0	FNDC1	159574059	0.624000	0.27102	0.011000	0.14972	0.060000	0.15804	0.933000	0.28897	2.639000	0.89480	0.655000	0.94253	CGG	FNDC1	-	NULL		0.627	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	G	NM_032532		159654069	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.022	A	A	159654069	G	A	159654069	3	1	21	1	0	0	0	0	1	0	0	0	5986	1116	39	2	2567	2	FNDC1	6	159654069	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	15146037	159654069	11460998	104	3027										
SLC22A1	6580	genome.wustl.edu	37	chr6	160557675	160557675	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agcgcaccttcatcctgatgTacctgtggtgaggggcgttc	13	11	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr6:160557675T>A	ENST00000366963.4	+	6	1201	c.1054T>A	c.(1054-1056)Tac>Aac	p.Y352N	SLC22A1_ENST00000324965.4_Missense_Mutation_p.Y352N|SLC22A1_ENST00000457470.2_Missense_Mutation_p.Y352N	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	352					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CATCCTGATGTACCTGTGGTG	0.567																																																	0													116	95	102					6																	160557675		2203	4300	6503	SO:0001583	missense	6580			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1054T>A	6.37:g.160557675T>A	ENSP00000355930:p.Tyr352Asn		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.Y352N	ENST00000366963.4	37	c.1054	CCDS5274.1	6	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211976	0.79240	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.74002	-0.8;-0.8;-0.8	4.46	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.238912	0.36101	N	0.002785	D	0.83362	0.5238	M	0.84326	2.69	0.53688	D	0.999978	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.981	D	0.86682	0.1917	10	0.87932	D	0	.	13.7576	0.62946	0.0:0.0:0.0:1.0	.	352;352	O15245-2;O15245	.;S22A1_HUMAN	N	352	ENSP00000355930:Y352N;ENSP00000318103:Y352N;ENSP00000409557:Y352N	ENSP00000318103:Y352N	Y	+	1	0	SLC22A1	160477665	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.215000	0.77966	1.650000	0.50662	0.459000	0.35465	TAC	SLC22A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.567	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	T			160557675	1	no_errors	ENST00000366963	ensembl	human	known	70_37	missense	SNP	0.998	A	A	160557675	T	A	160557675	3	1	21	1	0	0	0	0	1	0	0	0	14470	1638	57	5	1076	5	SLC22A1	6	160557675	Missense_Mutation	SNP	T	TCGA-C5-A1MH-01A-11D-A14W-08	903606	160557675	10557392	105	3028										
MICALL2	79778	genome.wustl.edu	37	chr7	1479625	1479625	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggcctcacgggggtcagggtGatgtggacactcccagcaaa	15	11	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:1479625G>A	ENST00000297508.7	-	9	2077	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	MICALL2_ENST00000405088.4_Silent_p.I422I|MICALL2_ENST00000471899.1_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	634	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGTCAGGGTGATGTGGACAC	0.706																																																	0													35	37	36					7																	1479625		2195	4294	6489	SO:0001819	synonymous_variant	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1902C>T	7.37:g.1479625G>A			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.I634	ENST00000297508.7	37	c.1902	CCDS5324.1	7																																																																																			MICALL2	-	NULL		0.706	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	G	NM_182924		1479625	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	silent	SNP	0.046	A	A	1479625	G	A	1479625	2	1	21	1	0	0	0	0	0	0	0	1	9597	1280	45	1		1	MICALL2	7	1479625	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		1479625	157659038	106	3029										
EIF3B	8662	genome.wustl.edu	37	chr7	2412417	2412417	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacgtcaaaaacaacgggaaGattgaactcatcagtaagta	8	8	3	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:2412417G>A	ENST00000360876.4	+	12	1853	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	EIF3B_ENST00000397011.2_Silent_p.K599K	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ACAACGGGAAGATTGAACTCA	0.502																																																	0													97	86	89					7																	2412417		2203	4300	6503	SO:0001819	synonymous_variant	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1797G>A	7.37:g.2412417G>A				Silent	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.K599	ENST00000360876.4	37	c.1797	CCDS5332.1	7																																																																																			EIF3B	-	pfam_TIF2A_beta_prop-like,pirsf_eIF3b		0.502	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	G			2412417	1	no_errors	ENST00000360876	ensembl	human	known	70_37	silent	SNP	0.999	A	A	2412417	G	A	2412417	2	1	21	1	0	0	0	0	0	0	0	1	5023	933	33	1		1	EIF3B	7	2412417	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	932792	2412417	156726246	107	3030										
TWISTNB	221830	genome.wustl.edu	37	chr7	19739762	19739762	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgagtctaaacgaaatacttCaaattctagttcatcaccca	4	10	5	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:19739762C>A	ENST00000222567.5	-	3	608	c.538G>T	c.(538-540)Gaa>Taa	p.E180*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	180					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CGAAATACTTCAAATTCTAGT	0.398																																																	0													120	113	115					7																	19739762		2203	4300	6503	SO:0001587	stop_gained	221830			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.538G>T	7.37:g.19739762C>A	ENSP00000222567:p.Glu180*		A0PJ45|B7Z724	Nonsense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.E180*	ENST00000222567.5	37	c.538	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.661152	0.97743	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.82	5.82	0.92795	.	0.133115	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-20.802	10.4946	0.44770	0.0:0.781:0.1453:0.0737	.	.	.	.	X	180	.	ENSP00000222567:E180X	E	-	1	0	TWISTNB	19706287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.502000	0.60400	2.758000	0.94735	0.650000	0.86243	GAA	TWISTNB	-	NULL		0.398	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1	C			19739762	-1	no_errors	ENST00000222567	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	19739762	C	A	19739762	4	1	21	1	0	0	0	0	0	1	0	0	16815	835	29	3	486	3	TWISTNB	7	19739762	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	17327345	19739762	139398901	108	3031										
IGF2BP3	10643	genome.wustl.edu	37	chr7	23353181	23353181	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	taactctgccagcagcaaagGatggcactctgatatgagct	10	10	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:23353181G>C	ENST00000258729.3	-	13	1843	c.1487C>G	c.(1486-1488)tCc>tGc	p.S496C		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	496	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCAGCAAAGGATGGCACTCT	0.413																																																	0													146	141	143					7																	23353181		2203	4300	6503	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1487C>G	7.37:g.23353181G>C	ENSP00000258729:p.Ser496Cys		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.S496C	ENST00000258729.3	37	c.1487	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865245	0.91511	.	.	ENSG00000136231	ENST00000258729	T	0.34072	1.38	5.55	5.55	0.83447	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.049590	0.85682	D	0.000000	T	0.66906	0.2837	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.72033	-0.4412	10	0.87932	D	0	-6.6644	19.8764	0.96873	0.0:0.0:1.0:0.0	.	496	O00425	IF2B3_HUMAN	C	496	ENSP00000258729:S496C	ENSP00000258729:S496C	S	-	2	0	IGF2BP3	23319706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.768000	0.95171	0.655000	0.94253	TCC	IGF2BP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.413	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	G	NM_006547		23353181	-1	no_errors	ENST00000258729	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23353181	G	C	23353181	3	2	21	1	0	0	0	0	1	0	0	0	7595	1174	41	1	264	1	IGF2BP3	7	23353181	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	3613419	23353181	135785482	109	3032										
FKBP9	11328	genome.wustl.edu	37	chr7	33014871	33014871	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggaattctgaagaccaggttCagattcacacctatttcaag	8	9	4	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:33014871C>T	ENST00000242209.4	+	3	614	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	FKBP9_ENST00000538336.1_Nonsense_Mutation_p.Q202*|FKBP9_ENST00000538443.1_Nonsense_Mutation_p.Q11*|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	149					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Q149E(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AGACCAGGTTCAGATTCACAC	0.463																																																	1	Substitution - Missense(1)	lung(1)											116	107	110					7																	33014871		2203	4300	6503	SO:0001587	stop_gained	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.445C>T	7.37:g.33014871C>T	ENSP00000242209:p.Gln149*		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Nonsense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.Q202*	ENST00000242209.4	37	c.604	CCDS5439.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.102775	0.98066	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	.	.	.	5.32	4.42	0.53409	.	0.062940	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-3.1609	15.8238	0.78683	0.0:0.8636:0.1364:0.0	.	.	.	.	X	149;202;11	.	ENSP00000242209:Q149X	Q	+	1	0	FKBP9	32981396	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.736000	0.62059	1.224000	0.43551	0.644000	0.83932	CAG	FKBP9	-	NULL		0.463	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	HGNC	protein_coding	OTTHUMT00000215137.1	C	NM_007270		33014871	1	no_errors	ENST00000538336	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	33014871	C	T	33014871	4	4	21	1	0	0	0	0	0	1	0	0	5933	827	29	1	455	1	FKBP9	7	33014871	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	9661690	33014871	126123792	110	3033										
RFC2	5982	genome.wustl.edu	37	chr7	73646450	73646450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tctgctctaactggccaccgGggccattgtcttctgacaca	9	14	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:73646450G>C	ENST00000055077.3	-	11	1111	c.1051C>G	c.(1051-1053)Ccg>Gcg	p.P351A	RFC2_ENST00000352131.3_Missense_Mutation_p.P317A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	351					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CTGGCCACCGGGGCCATTGTC	0.522																																																	0													107	105	105					7																	73646450		2203	4300	6503	SO:0001583	missense	5982				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.1051C>G	7.37:g.73646450G>C	ENSP00000055077:p.Pro351Ala		B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.P351A	ENST00000055077.3	37	c.1051	CCDS5568.1	7	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235233	0.58886	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;T	0.16196	2.36;2.63	5.22	5.22	0.72569	.	0.167402	0.53938	D	0.000049	T	0.15739	0.0379	L	0.32530	0.975	0.80722	D	1	B;B;B	0.19583	0.037;0.022;0.012	B;B;B	0.22386	0.039;0.018;0.012	T	0.03739	-1.1008	10	0.33940	T	0.23	-14.3029	15.8666	0.79069	0.0:0.0:1.0:0.0	.	317;317;351	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	A	317;351	ENSP00000275627:P317A;ENSP00000055077:P351A	ENSP00000055077:P351A	P	-	1	0	RFC2	73284386	1.000000	0.71417	0.933000	0.37362	0.929000	0.56500	6.848000	0.75409	2.610000	0.88304	0.650000	0.86243	CCG	RFC2	-	NULL		0.522	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC2	HGNC	protein_coding	OTTHUMT00000252459.2	G	NM_181471		73646450	-1	no_errors	ENST00000055077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73646450	G	C	73646450	3	2	21	1	0	0	0	0	1	0	0	0	13275	1232	43	4	17	4	RFC2	7	73646450	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	40631579	73646450	85492213	111	3034										
TRIP6	7205	genome.wustl.edu	37	chr7	100470816	100470816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtgtgggctgctgctctcctCtgagggcgagtgtcagggct	17	10	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:100470816C>T	ENST00000200457.4	+	9	1682	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000388793.4_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	441	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCTCTCCTCTGAGGGCGAG	0.612																																																	0													62	57	58					7																	100470816		2203	4300	6503	SO:0001583	missense	7205			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1322C>T	7.37:g.100470816C>T	ENSP00000200457:p.Ser441Phe		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S441F	ENST00000200457.4	37	c.1322	CCDS5708.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424256	0.83667	.	.	ENSG00000087077	ENST00000200457	D	0.88124	-2.34	4.42	4.42	0.53409	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.94574	0.8252	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95249	0.8358	10	0.66056	D	0.02	.	12.3868	0.55336	0.0:1.0:0.0:0.0	.	441	Q15654	TRIP6_HUMAN	F	441	ENSP00000200457:S441F	ENSP00000200457:S441F	S	+	2	0	TRIP6	100308752	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.736000	0.68597	2.290000	0.77057	0.591000	0.81541	TCT	TRIP6	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP6	HGNC	protein_coding	OTTHUMT00000347151.2	C	NM_003302		100470816	1	no_errors	ENST00000200457	ensembl	human	known	70_37	missense	SNP	0.984	T	T	100470816	C	T	100470816	3	4	21	1	0	0	0	0	1	0	0	0	16590	913	32	1	1356	1	TRIP6	7	100470816	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	26824366	100470816	58667847	112	3035										
SRRT	51593	genome.wustl.edu	37	chr7	100486133	100486133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagggccattgtggaatatcGggacctggatgccccagacg	14	10	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:100486133G>A	ENST00000347433.4	+	20	2752	c.2594G>A	c.(2593-2595)cGg>cAg	p.R865Q	SRRT_ENST00000457580.2_Missense_Mutation_p.R861Q|SRRT_ENST00000432932.1_Missense_Mutation_p.R860Q|SRRT_ENST00000388793.4_Missense_Mutation_p.R864Q			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	865					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGAATATCGGGACCTGGAT	0.537																																																	0													117	109	111					7																	100486133		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2594G>A	7.37:g.100486133G>A	ENSP00000314491:p.Arg865Gln		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.R864Q	ENST00000347433.4	37	c.2591	CCDS34709.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.190424|5.190424	0.94923|0.94923	.|.	.|.	ENSG00000087087|ENSG00000087087	ENST00000445337|ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72661|0.72661	0.3488|0.3488	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;0.998;0.997	.|D;D;D;D	.|0.79108	.|0.992;0.979;0.979;0.953	T|T	0.67891|0.67891	-0.5553|-0.5553	6|9	0.48119|0.21540	T|T	0.1|0.41	.|.	16.0149|16.0149	0.80430|0.80430	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|864;860;861;865	.|Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.|.;.;.;SRRT_HUMAN	R|Q	100|861;864;860;865;488	.|.	ENSP00000398618:G100R|ENSP00000314491:R865Q	G|R	+|+	1|2	0|0	SRRT|SRRT	100324069|100324069	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.738000|0.738000	0.42128|0.42128	7.386000|7.386000	0.79775|0.79775	2.363000|2.363000	0.80096|0.80096	0.478000|0.478000	0.44815|0.44815	GGG|CGG	SRRT	-	NULL		0.537	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100486133	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100486133	G	A	100486133	3	1	21	1	0	0	0	0	1	0	0	0	15202	1116	39	2	2668	2	SRRT	7	100486133	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	15317	100486133	58652530	113	3036										
MUC17	140453	genome.wustl.edu	37	chr7	100682189	100682189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgaagccagttcatctcctAcaactgctgaagatatcgtc	7	12	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:100682189A>G	ENST00000306151.4	+	3	7556	c.7492A>G	c.(7492-7494)Aca>Gca	p.T2498A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2498	59 X approximate tandem repeats.|Ser-rich.				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)			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)					TTCATCTCCTACAACTGCTGA	0.512																																																	0													277	281	280					7																	100682189		2203	4300	6503	SO:0001583	missense	140453			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.7492A>G	7.37:g.100682189A>G	ENSP00000302716:p.Thr2498Ala		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T2498A	ENST00000306151.4	37	c.7492	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	a	6.549	0.469653	0.12461	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.953	0.953	0.19590	.	.	.	.	.	T	0.01320	0.0043	N	0.17082	0.46	0.09310	N	1	P	0.46912	0.886	B	0.41135	0.348	T	0.33085	-0.9882	9	0.08179	T	0.78	.	3.8649	0.09012	0.6063:0.3936:0.0:0.0	.	2498	Q685J3	MUC17_HUMAN	A	2498	ENSP00000302716:T2498A	ENSP00000302716:T2498A	T	+	1	0	MUC17	100468909	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.929000	0.03976	0.700000	0.31782	0.113000	0.15668	ACA	MUC17	-	NULL		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	A	NM_001040105		100682189	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.014	G	G	100682189	A	G	100682189	3	3	21	1	0	0	0	0	1	0	0	0	9997	391	14	5	7502	5	MUC17	7	100682189	Missense_Mutation	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	196056	100682189	58456474	114	3037										
TRIM56	81844	genome.wustl.edu	37	chr7	100730884	100730884	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtggagacctgcgtgccggGaagccagcctgtgccctgtg	16	12	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:100730884G>A	ENST00000306085.6	+	3	588	c.291G>A	c.(289-291)ggG>ggA	p.G97G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	97					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCGTGCCGGGAAGCCAGCCT	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)												0													26	32	30					7																	100730884		2102	4211	6313	SO:0001819	synonymous_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.291G>A	7.37:g.100730884G>A			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.G97	ENST00000306085.6	37	c.291	CCDS43625.1	7																																																																																			TRIM56	-	NULL		0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	G	NM_030961		100730884	1	no_errors	ENST00000306085	ensembl	human	known	70_37	silent	SNP	0.023	A	A	100730884	G	A	100730884	2	1	21	1	0	0	0	0	0	0	0	1	16561	1161	41	1		1	TRIM56	7	100730884	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	48695	100730884	58407779	115	3038										
KCND2	3751	genome.wustl.edu	37	chr7	119914774	119914774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cctcggggcctatgccggctCccccgaggcaggagaggaaa	15	14	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:119914774C>T	ENST00000331113.4	+	1	1053	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	30					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TATGCCGGCTCCCCCGAGGCA	0.627																																																	0													99	116	110					7																	119914774		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.88C>T	7.37:g.119914774C>T	ENSP00000333496:p.Pro30Ser		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.P30S	ENST00000331113.4	37	c.88	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195683	0.38806	.	.	ENSG00000184408	ENST00000331113	D	0.96885	-4.16	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.60455	1.87	0.37568	D	0.919316	B	0.16166	0.016	B	0.15870	0.014	D	0.90454	0.4441	9	.	.	.	.	9.9354	0.41548	0.131:0.6802:0.1889:0.0	.	30	Q9NZV8	KCND2_HUMAN	S	30	ENSP00000333496:P30S	.	P	+	1	0	KCND2	119702010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.809000	0.55606	2.603000	0.88011	0.655000	0.94253	CCC	KCND2	-	pfam_Shal-type,prints_K_chnl_volt-dep_Kv4.2		0.627	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	C	NM_012281		119914774	1	no_errors	ENST00000331113	ensembl	human	known	70_37	missense	SNP	0.999	T	T	119914774	C	T	119914774	3	4	21	1	0	0	0	0	1	0	0	0	8039	855	30	1	90	1	KCND2	7	119914774	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	19183890	119914774	39223889	116	3039										
C7orf58	79974	genome.wustl.edu	37	chr7	120764400	120764400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacagctgcaaacattttttGagacattcctgagagccagt	8	10	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:120764400G>C	ENST00000310396.5	+	8	1401	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CPED1_ENST00000450913.2_Missense_Mutation_p.E312Q|CPED1_ENST00000423795.1_Missense_Mutation_p.E92Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	312						endoplasmic reticulum (GO:0005783)											AACATTTTTTGAGACATTCCT	0.393																																																	0													117	115	115					7																	120764400		2203	4300	6503	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.934G>C	7.37:g.120764400G>C	ENSP00000309772:p.Glu312Gln		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.E312Q	ENST00000310396.5	37	c.934	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036950	0.75617	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.08	5.08	0.68730	.	0.319279	0.34200	N	0.004179	T	0.59662	0.2210	M	0.62723	1.935	0.80722	D	1	D;D;D	0.67145	0.996;0.981;0.994	P;P;P	0.59357	0.856;0.789;0.783	T	0.62609	-0.6818	10	0.62326	D	0.03	.	18.4275	0.90614	0.0:0.0:1.0:0.0	.	92;312;312	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	312;312;312;92;92	ENSP00000309772:E312Q;ENSP00000398082:E312Q;ENSP00000406122:E312Q;ENSP00000415573:E92Q;ENSP00000391952:E92Q	ENSP00000309772:E312Q	E	+	1	0	C7orf58	120551636	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.316000	0.72857	2.519000	0.84933	0.591000	0.81541	GAG	CPED1	-	NULL		0.393	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	G	NM_024913		120764400	1	no_errors	ENST00000310396	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120764400	G	C	120764400	3	2	21	1	0	0	0	0	1	0	0	0	2410	1291	45	1	960	1	C7orf58	7	120764400	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	849626	120764400	38374263	117	3040										
METTL2B	55798	genome.wustl.edu	37	chr7	128138114	128138114	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagaaggctatcaacaggctGagcaggcttctgaaacctgg	12	10	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:128138114G>A	ENST00000262432.8	+	7	871	c.834G>A	c.(832-834)ctG>ctA	p.L278L	METTL2B_ENST00000480046.1_Silent_p.L213L	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	278					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCAACAGGCTGAGCAGGCTTC	0.473																																																	0													102	100	101					7																	128138114		2203	4300	6503	SO:0001819	synonymous_variant	55798			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.834G>A	7.37:g.128138114G>A			B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.L278	ENST00000262432.8	37	c.834	CCDS5803.2	7																																																																																			METTL2B	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd		0.473	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	G	NM_018396		128138114	1	no_errors	ENST00000262432	ensembl	human	known	70_37	silent	SNP	0.962	A	A	128138114	G	A	128138114	2	1	21	1	0	0	0	0	0	0	0	1	9523	1277	45	1		1	METTL2B	7	128138114	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7373714	128138114	31000549	118	3041										
PLXNA4	91584	genome.wustl.edu	37	chr7	131883280	131883280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaccatccactaaagggctgCactccacgccagcaaccttg	7	16	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:131883280C>T	ENST00000359827.3	-	13	3664	c.2702G>A	c.(2701-2703)tGc>tAc	p.C901Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.C901Y			Q9HCM2	PLXA4_HUMAN	plexin A4	901	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAAAGGGCTGCACTCCACGCC	0.577																																																	0													70	71	71					7																	131883280		2015	4186	6201	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2702G>A	7.37:g.131883280C>T	ENSP00000352882:p.Cys901Tyr		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.C901Y	ENST00000359827.3	37	c.2702	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924266	0.92319	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.80214	-1.35;-1.35	5.94	5.94	0.96194	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94194	0.7444	10	0.66056	D	0.02	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	901	Q9HCM2	PLXA4_HUMAN	Y	901	ENSP00000323194:C901Y;ENSP00000352882:C901Y	ENSP00000323194:C901Y	C	-	2	0	PLXNA4	131533820	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	TGC	PLXNA4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	C	NM_181775		131883280	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131883280	C	T	131883280	3	4	21	1	0	0	0	0	1	0	0	0	12146	710	25	4	3062	4	PLXNA4	7	131883280	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3745166	131883280	27255383	119	3042										
SMARCD3	6604	genome.wustl.edu	37	chr7	150937513	150937513	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagctggggccacctcacctGatgacatggttgatgacaat	11	10	1	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:150937513G>C	ENST00000262188.8	-	9	1445	c.1035C>G	c.(1033-1035)atC>atG	p.I345M	SMARCD3_ENST00000356800.2_Missense_Mutation_p.I332M|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000392811.2_Missense_Mutation_p.I332M	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	345					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCTCACCTGATGACATGGT	0.562																																																	0													64	67	66					7																	150937513		2203	4300	6503	SO:0001583	missense	6604			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1035C>G	7.37:g.150937513G>C	ENSP00000262188:p.Ile345Met		D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.I345M	ENST00000262188.8	37	c.1035	CCDS34780.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074235	0.76415	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.62941	-0.01;-0.01;-0.01	5.39	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	H	0.94542	3.55	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.69654	0.965;0.929	D	0.87185	0.2230	10	0.87932	D	0	-17.5088	12.5996	0.56489	0.0801:0.0:0.9199:0.0	.	332;345	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	M	345;332;332;297	ENSP00000262188:I345M;ENSP00000376558:I332M;ENSP00000349254:I332M	ENSP00000262188:I345M	I	-	3	3	SMARCD3	150568446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.954000	0.87848	1.278000	0.44430	0.563000	0.77884	ATC	SMARCD3	-	NULL		0.562	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	G	NM_001003801		150937513	-1	no_errors	ENST00000262188	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150937513	G	C	150937513	3	2	21	1	0	0	0	0	1	0	0	0	14809	1280	45	1	436	1	SMARCD3	7	150937513	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	19054233	150937513	8201150	120	3043										
UBE3C	9690	genome.wustl.edu	37	chr7	157023842	157023842	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcctggatgaagctggcattGatggtggtggtattttcaga	15	5	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr7:157023842G>C	ENST00000348165.5	+	18	2662	c.2302G>C	c.(2302-2304)Gat>Cat	p.D768H		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	768	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGCTGGCATTGATGGTGGTGG	0.438																																																	0													110	110	110					7																	157023842		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2302G>C	7.37:g.157023842G>C	ENSP00000309198:p.Asp768His		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.D768H	ENST00000348165.5	37	c.2302	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905741	0.92107	.	.	ENSG00000009335	ENST00000348165	T	0.65364	-0.15	5.45	5.45	0.79879	HECT (3);	0.103382	0.64402	D	0.000002	D	0.88651	0.6494	H	0.99286	4.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	D	0.93367	0.6732	10	0.87932	D	0	.	19.3383	0.94329	0.0:0.0:1.0:0.0	.	768;621	Q15386;B4DHJ9	UBE3C_HUMAN;.	H	768	ENSP00000309198:D768H	ENSP00000309198:D768H	D	+	1	0	UBE3C	156716603	1.000000	0.71417	0.987000	0.45799	0.885000	0.51271	9.507000	0.97996	2.585000	0.87301	0.549000	0.68633	GAT	UBE3C	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.438	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157023842	1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157023842	G	C	157023842	3	2	21	1	0	0	0	0	1	0	0	0	16912	1290	45	1	2372	1	UBE3C	7	157023842	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6086329	157023842	2114821	121	3044										
ATP6V1B2	526	genome.wustl.edu	37	chr8	20055039	20055039	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agtcagtcggaactacctctCccagcctcgcctcagtgagt	9	15	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:20055039C>G	ENST00000276390.2	+	1	162	c.122C>G	c.(121-123)tCc>tGc	p.S41C		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	41					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	AACTACCTCTCCCAGCCTCGC	0.647																																					Pancreas(119;1230 1726 3901 4036 31644)												0													23	29	27					8																	20055039		2202	4299	6501	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.122C>G	8.37:g.20055039C>G	ENSP00000276390:p.Ser41Cys		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.S41C	ENST00000276390.2	37	c.122	CCDS6014.1	8	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604340	0.46423	.	.	ENSG00000147416	ENST00000276390	D	0.83419	-1.72	4.82	3.94	0.45596	.	0.055812	0.85682	D	0.000000	T	0.75162	0.3812	N	0.19112	0.55	0.80722	D	1	B	0.34241	0.444	B	0.42882	0.401	T	0.73603	-0.3930	10	0.48119	T	0.1	-29.89	8.8934	0.35449	0.0:0.8991:0.0:0.1009	.	41	P21281	VATB2_HUMAN	C	41	ENSP00000276390:S41C	ENSP00000276390:S41C	S	+	2	0	ATP6V1B2	20099319	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	3.708000	0.54845	1.241000	0.43820	-0.140000	0.14226	TCC	ATP6V1B2	-	NULL		0.647	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B2	HGNC	protein_coding	OTTHUMT00000253732.1	C	NM_001693		20055039	1	no_errors	ENST00000276390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20055039	C	G	20055039	3	3	21	1	0	0	0	0	1	0	0	0	1180	855	30	1	124	1	ATP6V1B2	8	20055039	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		20055039	126308983	122	3045										
ANK1	286	genome.wustl.edu	37	chr8	41554223	41554223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	accgggctggccaccgggctGatgttgtctgaggtctcggt	16	11	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:41554223G>C	ENST00000347528.4	-	25	2789	c.2706C>G	c.(2704-2706)atC>atG	p.I902M	ANK1_ENST00000396942.1_Missense_Mutation_p.I902M|ANK1_ENST00000396945.1_Missense_Mutation_p.I902M|ANK1_ENST00000265709.8_Missense_Mutation_p.I943M|ANK1_ENST00000352337.4_Missense_Mutation_p.I902M|ANK1_ENST00000379758.2_Missense_Mutation_p.I902M|ANK1_ENST00000289734.7_Missense_Mutation_p.I902M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	902				I -> T (in Ref. 3; AAB47805). {ECO:0000305}.	axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACCGGGCTGATGTTGTCTG	0.632																																																	0													42	47	45					8																	41554223		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2706C>G	8.37:g.41554223G>C	ENSP00000339620:p.Ile902Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.I902M	ENST00000347528.4	37	c.2706	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.461504|2.461504	0.43736|0.43736	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.18;-0.16;-0.18;-0.17;-0.18|.	5.67|5.67	3.6|3.6	0.41247|0.41247	.|.	0.055185|.	0.64402|.	D|.	0.000001|.	T|T	0.55497|0.55497	0.1924|0.1924	L|L	0.39898|0.39898	1.24|1.24	0.45806|0.45806	D|D	0.99868|0.99868	B;B;P;B;B;P|.	0.41080|.	0.029;0.088;0.524;0.09;0.029;0.737|.	B;B;B;B;B;B|.	0.42882|.	0.09;0.043;0.289;0.112;0.09;0.401|.	T|T	0.51733|0.51733	-0.8668|-0.8668	10|5	0.62326|.	D|.	0.03|.	.|.	11.9038|11.9038	0.52699|0.52699	0.1882:0.0:0.8118:0.0|0.1882:0.0:0.8118:0.0	.|.	943;902;902;902;902;218|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	M|E	902;902;902;902;902;902;943;902|224	ENSP00000339620:I902M;ENSP00000289734:I902M;ENSP00000369082:I902M;ENSP00000380149:I902M;ENSP00000380147:I902M;ENSP00000309131:I902M;ENSP00000265709:I943M|.	ENSP00000265709:I943M|.	I|Q	-|-	3|1	3|0	ANK1|ANK1	41673380|41673380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.133000|2.133000	0.42093|0.42093	1.378000|1.378000	0.46305|0.46305	0.561000|0.561000	0.74099|0.74099	ATC|CAG	ANK1	-	NULL		0.632	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	G	NM_020475		41554223	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41554223	G	C	41554223	3	2	21	1	0	0	0	0	1	0	0	0	620	1280	45	1	3337	1	ANK1	8	41554223	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	21499184	41554223	104809799	123	3046										
TRAM1	23471	genome.wustl.edu	37	chr8	71495505	71495505	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cttcgaagctgaaaattaatGaacttccacatcataaatgc	5	9	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:71495505G>C	ENST00000262213.2	-	10	1114	c.945C>G	c.(943-945)ttC>ttG	p.F315L	TRAM1_ENST00000521425.1_Missense_Mutation_p.F229L|TRAM1_ENST00000536748.1_Missense_Mutation_p.F284L|TRAM1_ENST00000521049.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	315	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GAAAATTAATGAACTTCCACA	0.368																																					Ovarian(85;984 1334 5116 12432 40638)												0													109	99	102					8																	71495505		2203	4300	6503	SO:0001583	missense	23471			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.945C>G	8.37:g.71495505G>C	ENSP00000262213:p.Phe315Leu		B4E0K2	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.F315L	ENST00000262213.2	37	c.945	CCDS6207.1	8	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454363	0.43634	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.84223	-1.82;-1.82;-1.82	5.08	3.3	0.37823	TRAM/LAG1/CLN8 homology domain (3);	0.092545	0.85682	D	0.000000	T	0.78291	0.4260	L	0.41824	1.3	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.71210	-0.4660	10	0.38643	T	0.18	.	11.293	0.49261	0.147:0.0:0.853:0.0	.	315	Q15629	TRAM1_HUMAN	L	229;315;284	ENSP00000428052:F229L;ENSP00000262213:F315L;ENSP00000439359:F284L	ENSP00000262213:F315L	F	-	3	2	TRAM1	71658059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.338000	0.43957	0.743000	0.32719	0.563000	0.77884	TTC	TRAM1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom		0.368	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1	G	NM_014294		71495505	-1	no_errors	ENST00000262213	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71495505	G	C	71495505	3	2	21	1	0	0	0	0	1	0	0	0	16482	1281	45	1	187	1	TRAM1	8	71495505	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	29941282	71495505	74868517	124	3047										
JPH1	56704	genome.wustl.edu	37	chr8	75157351	75157351	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggcttttctggtaccttttCttctggattttctttagcat	7	8	4	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:75157351C>T	ENST00000342232.4	-	4	1358	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	JPH1_ENST00000518195.1_5'Flank	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	440					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGTACCTTTTCTTCTGGATTT	0.428																																																	0													128	123	125					8																	75157351		2203	4300	6503	SO:0001583	missense	56704			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1318G>A	8.37:g.75157351C>T	ENSP00000344488:p.Glu440Lys		B2RTZ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.E440K	ENST00000342232.4	37	c.1318	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485674	0.63962	.	.	ENSG00000104369	ENST00000342232	T	0.58940	0.3	5.34	5.34	0.76211	.	0.153255	0.64402	D	0.000019	T	0.53286	0.1787	L	0.43152	1.355	0.58432	D	0.999998	P	0.46395	0.877	B	0.40741	0.339	T	0.53982	-0.8361	10	0.38643	T	0.18	.	19.2408	0.93881	0.0:1.0:0.0:0.0	.	440	Q9HDC5	JPH1_HUMAN	K	440	ENSP00000344488:E440K	ENSP00000344488:E440K	E	-	1	0	JPH1	75319905	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.943000	0.75934	2.785000	0.95823	0.655000	0.94253	GAA	JPH1	-	pirsf_Junctophilin		0.428	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	C			75157351	-1	no_errors	ENST00000342232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75157351	C	T	75157351	3	4	21	1	0	0	0	0	1	0	0	0	7980	922	32	1	675	1	JPH1	8	75157351	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3661846	75157351	71206671	125	3048										
MTDH	92140	genome.wustl.edu	37	chr8	98711993	98711993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcatttaagggtctactgctGagccagtttctcagtctacc	8	11	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:98711993G>A	ENST00000336273.3	+	7	1388	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	354					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GTCTACTGCTGAGCCAGTTTC	0.358																																																	0													138	130	132					8																	98711993		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1060G>A	8.37:g.98711993G>A	ENSP00000338235:p.Glu354Lys		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	NULL	p.E354K	ENST00000336273.3	37	c.1060	CCDS6274.1	8	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512959	0.85389	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.52295	0.67	5.0	5.0	0.66597	.	0.379490	0.30293	N	0.009956	T	0.58991	0.2161	L	0.58101	1.795	0.80722	D	1	D	0.60160	0.987	P	0.54499	0.754	T	0.63462	-0.6632	10	0.72032	D	0.01	-6.9513	16.8437	0.85975	0.0:0.0:1.0:0.0	.	354	Q86UE4	LYRIC_HUMAN	K	354;24	ENSP00000338235:E354K	ENSP00000338235:E354K	E	+	1	0	MTDH	98781169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.452000	0.73485	2.478000	0.83669	0.561000	0.74099	GAG	MTDH	-	NULL		0.358	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	G			98711993	1	no_errors	ENST00000336273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98711993	G	A	98711993	3	1	21	1	0	0	0	0	1	0	0	0	9940	1291	45	1	1086	1	MTDH	8	98711993	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	23554642	98711993	47652029	126	3049										
VPS13B	157680	genome.wustl.edu	37	chr8	100133458	100133458	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atcctgctcagcataaaggtCaagagttatattcacagcaa	7	9	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:100133458C>T	ENST00000358544.2	+	8	1102	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Q331*|VPS13B_ENST00000395996.1_Nonsense_Mutation_p.Q331*|CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.Q331*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q331*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	331					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCATAAAGGTCAAGAGTTATA	0.398																																					Colon(161;2205 2542 7338 31318)												0													88	82	84					8																	100133458		2203	4300	6503	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.991C>T	8.37:g.100133458C>T	ENSP00000351346:p.Gln331*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q331*	ENST00000358544.2	37	c.991	CCDS6280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.877732|4.877732	0.91664|0.91664	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350|ENST00000524330	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.070135|.	0.64402|.	D|.	0.000019|.	.|T	.|0.74512	.|0.3726	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72500	.|-0.4274	.|3	0.19147|.	T|.	0.46|.	.|.	17.929|17.929	0.88992|0.88992	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	331|39	.|.	ENSP00000347281:Q331X|.	Q|S	+|+	1|2	0|0	VPS13B|VPS13B	100202634|100202634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	6.626000|6.626000	0.74253|0.74253	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	CAA|TCA	VPS13B	-	NULL		0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100133458	1	no_errors	ENST00000358544	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	100133458	C	T	100133458	4	4	21	1	0	0	0	0	0	1	0	0	17221	827	29	1	1017	1	VPS13B	8	100133458	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	1421465	100133458	46230564	127	3050										
EIF3E	3646	genome.wustl.edu	37	chr8	109226922	109226922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaatcctcaagacaagccacCaagaagaagtcattcacaag	6	11	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:109226922C>T	ENST00000220849.5	-	10	1037	c.975G>A	c.(973-975)ttG>ttA	p.L325L	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Silent_p.L232L	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GACAAGCCACCAAGAAGAAGT	0.383																																					GBM(15;360 410 8460 34179 52246)												0													91	85	87					8																	109226922		2203	4300	6503	SO:0001819	synonymous_variant	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.975G>A	8.37:g.109226922C>T				Silent	SNP	pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk	p.L325	ENST00000220849.5	37	c.975	CCDS6308.1	8																																																																																			EIF3E	-	pfam_PCI_dom,pirsf_Transl_init_fac_3_su6_euk		0.383	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380612.2	C	NM_001568		109226922	-1	no_errors	ENST00000220849	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109226922	C	T	109226922	2	4	21	1	0	0	0	0	0	0	0	1	5027	593	21	4		4	EIF3E	8	109226922	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	9093464	109226922	37137100	128	3051										
PTK2	5747	genome.wustl.edu	37	chr8	141874446	141874446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	attcaaagttggcttatcttCagtaaactggtttagaaatc	7	6	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:141874446C>T	ENST00000522684.1	-	5	644	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PTK2_ENST00000517887.1_Missense_Mutation_p.E183K|PTK2_ENST00000340930.3_Missense_Mutation_p.E139K|PTK2_ENST00000521059.1_Missense_Mutation_p.E139K|PTK2_ENST00000535192.1_Missense_Mutation_p.E139K|PTK2_ENST00000395218.2_Missense_Mutation_p.E139K|PTK2_ENST00000519419.1_Missense_Mutation_p.E183K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	139	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCTTATCTTCAGTAAACTGG	0.274																																																	0													73	81	78					8																	141874446		2199	4293	6492	SO:0001583	missense	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.415G>A	8.37:g.141874446C>T	ENSP00000429911:p.Glu139Lys		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E139K	ENST00000522684.1	37	c.415	CCDS6381.1	8	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584399	0.46110	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000520828;ENST00000520475	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.27	5.27	0.74061	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	N	0.17922	0.545	0.80722	D	1	B;B;B;B;B;B	0.26120	0.032;0.001;0.142;0.002;0.015;0.002	B;B;B;B;B;B	0.25614	0.024;0.004;0.062;0.017;0.015;0.012	T	0.07481	-1.0770	10	0.18276	T	0.48	.	17.6794	0.88238	0.0:1.0:0.0:0.0	.	139;46;139;161;139;50	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	K	139;139;183;139;49;139;46;139;183;38;139	ENSP00000429911:E139K;ENSP00000438009:E139K;ENSP00000429082:E183K;ENSP00000429474:E139K;ENSP00000378644:E139K;ENSP00000341189:E139K;ENSP00000429129:E183K;ENSP00000427762:E38K;ENSP00000428792:E139K	ENSP00000341189:E139K	E	-	1	0	PTK2	141943628	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.187000	0.58344	2.475000	0.83589	0.313000	0.20887	GAA	PTK2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.274	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	C	NM_005607		141874446	-1	no_errors	ENST00000395218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141874446	C	T	141874446	3	4	21	1	0	0	0	0	1	0	0	0	12790	835	29	1	2855	1	PTK2	8	141874446	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	32647524	141874446	4489576	129	3052										
SLC45A4	57210	genome.wustl.edu	37	chr8	142225950	142225950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggtgctgatggtgaccatggCgacgtagacgttgggaaaca	16	7	0	3	rs200395774		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:142225950C>T	ENST00000024061.3	-	6	2003	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A566T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A559T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A617T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGACCATGGCGACGTAGACG	0.602																																																	0													203	140	161					8																	142225950		2203	4300	6503	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1696G>A	8.37:g.142225950C>T	ENSP00000024061:p.Ala566Thr		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.A617T	ENST00000024061.3	37	c.1849	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810351	0.32053	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.41	5.41	0.78517	.	0.352654	0.33235	N	0.005127	D	0.86797	0.6019	N	0.11789	0.175	0.41943	D	0.990625	P;P;P	0.42078	0.66;0.653;0.77	B;B;B	0.35182	0.096;0.14;0.197	D	0.85088	0.0950	10	0.23302	T	0.38	-47.1591	8.0719	0.30693	0.1592:0.7551:0.0:0.0857	.	617;566;566	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	566;617;559;566	ENSP00000429059:A566T;ENSP00000428137:A617T;ENSP00000400799:A559T;ENSP00000024061:A566T	ENSP00000024061:A566T	A	-	1	0	SLC45A4	142295132	0.917000	0.31117	0.999000	0.59377	0.819000	0.46315	1.686000	0.37669	2.526000	0.85167	0.462000	0.41574	GCC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt		0.602	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	C	XM_050325		142225950	-1	no_errors	ENST00000517878	ensembl	human	known	70_37	missense	SNP	0.952	T	T	142225950	C	T	142225950	3	4	21	1	0	0	0	0	1	0	0	0	14673	768	27	2	712	2	SLC45A4	8	142225950	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	351504	142225950	4138072	130	3053										
PLEC	5339	genome.wustl.edu	37	chr8	144998412	144998412	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gatgccttgcgcagctgggcCaggcgctcctcgatgtcagc	14	14	1	0	rs371105740		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:144998412C>G	ENST00000322810.4	-	31	6265	c.6096G>C	c.(6094-6096)ctG>ctC	p.L2032L	PLEC_ENST00000436759.2_Silent_p.L1922L|PLEC_ENST00000354958.2_Silent_p.L1873L|PLEC_ENST00000527096.1_Silent_p.L1918L|PLEC_ENST00000356346.3_Silent_p.L1881L|PLEC_ENST00000398774.2_Silent_p.L1863L|PLEC_ENST00000357649.2_Silent_p.L1899L|PLEC_ENST00000354589.3_Silent_p.L1895L|PLEC_ENST00000345136.3_Silent_p.L1895L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2032	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTGGGCCAGGCGCTCCT	0.711																																																	0													13	16	15					8																	144998412		2157	4229	6386	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6096G>C	8.37:g.144998412C>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L2032	ENST00000322810.4	37	c.6096	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144998412	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.917	G	G	144998412	C	G	144998412	2	3	21	1	0	0	0	0	0	0	0	1	12076	581	21	4		4	PLEC	8	144998412	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2772462	144998412	1365610	131	3054										
NFKBIL2	4796	genome.wustl.edu	37	chr8	145657729	145657729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacccttgccggctgccacgGagctgagctctaagtgcagg	13	14	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:145657729G>A	ENST00000409379.3	-	23	3703	c.3674C>T	c.(3673-3675)tCc>tTc	p.S1225F	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1225					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTGCCACGGAGCTGAGCTC	0.627																																																	0													71	75	74					8																	145657729		2203	4300	6503	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3674C>T	8.37:g.145657729G>A	ENSP00000386239:p.Ser1225Phe		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S1225F	ENST00000409379.3	37	c.3674	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	g	16.86	3.238953	0.58995	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.53423	0.62	5.03	4.12	0.48240	.	0.219434	0.38005	N	0.001850	T	0.57755	0.2075	M	0.62088	1.915	0.09310	N	1	D	0.57899	0.981	P	0.55161	0.77	T	0.53627	-0.8412	10	0.54805	T	0.06	-9.9733	12.9388	0.58331	0.0:0.1646:0.8354:0.0	.	1225	Q96HA7	TONSL_HUMAN	F	1225;1224	ENSP00000386239:S1225F	ENSP00000386239:S1225F	S	-	2	0	TONSL	145628537	0.328000	0.24687	0.010000	0.14722	0.210000	0.24377	2.470000	0.45119	1.046000	0.40249	0.462000	0.41574	TCC	TONSL	-	NULL		0.627	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145657729	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.040	A	A	145657729	G	A	145657729	3	1	21	1	0	0	0	0	1	0	0	0	10406	1174	41	1	478	1	NFKBIL2	8	145657729	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	659317	145657729	706293	132	3055										
LRRC24	441381	genome.wustl.edu	37	chr8	145748083	145748083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gacgaacagcgctccctcccCcggaggcccccgcgcctttt	10	20	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr8:145748083C>T	ENST00000529415.2	-	5	1435	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.G437R|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	440						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTCCCTCCCCCGGAGGCCCC	0.682																																																	0													11	12	11					8																	145748083		2170	4279	6449	SO:0001583	missense	441381			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1318G>A	8.37:g.145748083C>T	ENSP00000434849:p.Gly440Arg			Missense_Mutation	SNP	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G440R	ENST00000529415.2	37	c.1318	CCDS34969.1	8	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811113	0.70797	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.55234	0.67;0.53	4.92	4.92	0.64577	.	0.254621	0.38492	N	0.001673	T	0.53222	0.1783	N	0.19112	0.55	0.45250	D	0.998255	P;D	0.59767	0.773;0.986	B;P	0.56916	0.372;0.809	T	0.58306	-0.7659	10	0.62326	D	0.03	.	15.6382	0.76973	0.0:1.0:0.0:0.0	.	437;440	G3V1D8;Q50LG9	.;LRC24_HUMAN	R	440;437	ENSP00000434849:G440R;ENSP00000435653:G437R	ENSP00000434849:G440R	G	-	1	0	LRRC24	145718891	0.804000	0.28969	0.347000	0.25668	0.065000	0.16274	3.079000	0.50104	2.565000	0.86533	0.561000	0.74099	GGG	LRRC24	-	NULL		0.682	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2	C	NM_001024678		145748083	-1	no_errors	ENST00000529415	ensembl	human	known	70_37	missense	SNP	0.981	T	T	145748083	C	T	145748083	3	4	21	1	0	0	0	0	1	0	0	0	9002	623	22	4	227	4	LRRC24	8	145748083	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	90354	145748083	615939	133	3056										
DNAI1	27019	genome.wustl.edu	37	chr9	34500823	34500823	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaagccaagcgcctgtccgtCactgccctctgctggtaagt	10	14	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:34500823C>G	ENST00000242317.4	+	11	1176	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	335			V -> I (in dbSNP:rs11793196).		cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCCTGTCCGTCACTGCCCTCT	0.542									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62	62	62					9																	34500823		2203	4300	6503	SO:0001819	synonymous_variant	27019	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1005C>G	9.37:g.34500823C>G		848	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V335	ENST00000242317.4	37	c.1005	CCDS6557.1	9																																																																																			DNAI1	-	superfamily_WD40_repeat_dom		0.542	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	C			34500823	1	no_errors	ENST00000242317	ensembl	human	known	70_37	silent	SNP	1.000	G	G	34500823	C	G	34500823	2	3	21	1	0	0	0	0	0	0	0	1	4619	813	29	1		1	DNAI1	9	34500823	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		34500823	106712608	134	3057										
IL11RA	3590	genome.wustl.edu	37	chr9	34658549	34658549	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	caccccagggcctgcgggtaGagtcagtaccaggttacccc	12	15	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:34658549G>C	ENST00000555003.1	+	8	2035	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	IL11RA_ENST00000378817.4_Missense_Mutation_p.E227Q|IL11RA_ENST00000602473.1_Missense_Mutation_p.E227Q|IL11RA_ENST00000318041.9_Missense_Mutation_p.E227Q|IL11RA_ENST00000441545.2_Missense_Mutation_p.E227Q			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	227	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCTGCGGGTAGAGTCAGTACC	0.607																																																	0													69	64	65					9																	34658549		2203	4300	6503	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.679G>C	9.37:g.34658549G>C	ENSP00000450565:p.Glu227Gln		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E227Q	ENST00000555003.1	37	c.679	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221258	0.79464	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000555981	T;T;T;T;T;T	0.73681	1.33;1.33;0.7;1.16;1.33;-0.77	5.15	5.15	0.70609	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.245483	0.39544	N	0.001339	T	0.81583	0.4853	L	0.43152	1.355	0.42278	D	0.992086	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.83115	-0.0121	10	0.59425	D	0.04	-24.7713	16.1291	0.81414	0.0:0.0:1.0:0.0	.	227;227	Q5VZ79;Q14626	.;I11RA_HUMAN	Q	227;227;150;227;227;227	ENSP00000450565:E227Q;ENSP00000394391:E227Q;ENSP00000452207:E150Q;ENSP00000368094:E227Q;ENSP00000326500:E227Q;ENSP00000450640:E227Q	ENSP00000326500:E227Q	E	+	1	0	IL11RA	34648549	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	6.252000	0.72447	2.401000	0.81631	0.563000	0.77884	GAG	IL11RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.607	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	G	NM_001142784		34658549	1	no_errors	ENST00000318041	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34658549	G	C	34658549	3	2	21	1	0	0	0	0	1	0	0	0	7643	943	33	1	705	1	IL11RA	9	34658549	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	157726	34658549	106554882	135	3058										
UNC13B	10497	genome.wustl.edu	37	chr9	35377653	35377653	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagtgaagcagagtgtactgGatggcacctccaaatggtca	12	9	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:35377653G>C	ENST00000378495.3	+	15	1999	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	UNC13B_ENST00000378496.4_Missense_Mutation_p.D593H|UNC13B_ENST00000396787.1_Missense_Mutation_p.D605H	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	593	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGTACTGGATGGCACCTC	0.522																																																	0													54	46	49					9																	35377653		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1777G>C	9.37:g.35377653G>C	ENSP00000367756:p.Asp593His		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.D605H	ENST00000378495.3	37	c.1813	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.094717	0.94149	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.63580	-0.05;-0.05;-0.05	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	T	0.74009	-0.3802	10	0.87932	D	0	-18.8428	20.4135	0.99023	0.0:0.0:1.0:0.0	.	593;593	F8W8M9;O14795	.;UN13B_HUMAN	H	605;593;593;180	ENSP00000380006:D605H;ENSP00000367756:D593H;ENSP00000367757:D593H	ENSP00000367756:D593H	D	+	1	0	UNC13B	35367653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.835000	0.97688	0.591000	0.81541	GAT	UNC13B	-	NULL		0.522	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	G	NM_006377		35377653	1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35377653	G	C	35377653	3	2	21	1	0	0	0	0	1	0	0	0	17016	1174	41	1	1835	1	UNC13B	9	35377653	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	719104	35377653	105835778	136	3059										
VPS13A	23230	genome.wustl.edu	37	chr9	79936432	79936432	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tacagaagctgccactggatCttcagctgacttcgtaaagg	10	10	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:79936432C>T	ENST00000360280.3	+	44	5860	c.5600C>T	c.(5599-5601)tCt>tTt	p.S1867F	VPS13A_ENST00000376636.3_Missense_Mutation_p.S1828F|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1867F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1867F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1867					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCACTGGATCTTCAGCTGAC	0.338																																																	0													64	68	67					9																	79936432		2203	4299	6502	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5600C>T	9.37:g.79936432C>T	ENSP00000353422:p.Ser1867Phe		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S1867F	ENST00000360280.3	37	c.5600	CCDS6655.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.290|9.290	1.050389|1.050389	0.19827|0.19827	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.8|5.8	4.9|4.9	0.64082|0.64082	.|.	.|0.575639	.|0.18609	.|N	.|0.136216	T|T	0.34948|0.34948	0.0915|0.0915	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.19445	.|0.003;0.019;0.008;0.036;0.014	.|B;B;B;B;B	.|0.18263	.|0.006;0.021;0.005;0.01;0.01	T|T	0.16778|0.16778	-1.0391|-1.0391	5|10	.|0.54805	.|T	.|0.06	.|.	9.1377|9.1377	0.36883|0.36883	0.1446:0.782:0.0:0.0734|0.1446:0.782:0.0:0.0734	.|.	.|119;1828;1867;1867;1867	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	F|F	120|1867;1828;1867;1867	.|ENSP00000365821:S1867F;ENSP00000365823:S1828F;ENSP00000353422:S1867F;ENSP00000349985:S1867F	.|ENSP00000349985:S1867F	L|S	+|+	1|2	0|0	VPS13A|VPS13A	79126252|79126252	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.277000|0.277000	0.26821|0.26821	4.156000|4.156000	0.58138|0.58138	1.455000|1.455000	0.47813|0.47813	-0.459000|-0.459000	0.05422|0.05422	CTT|TCT	VPS13A	-	NULL		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	C	NM_015186		79936432	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	0.699	T	T	79936432	C	T	79936432	3	4	21	1	0	0	0	0	1	0	0	0	17220	913	32	1	5774	1	VPS13A	9	79936432	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	44558779	79936432	61276999	137	3060										
ZNF189	7743	genome.wustl.edu	37	chr9	104171183	104171183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttatcagtgcaaagagtgtgGgaaaagtttcagtcagcttt	11	5	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:104171183G>A	ENST00000339664.2	+	3	1262	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	ZNF189_ENST00000374861.3_Missense_Mutation_p.G364E|ZNF189_ENST00000259395.4_Missense_Mutation_p.G336E	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	378					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAAGAGTGTGGGAAAAGTTTC	0.418																																																	0													86	90	89					9																	104171183		2203	4300	6503	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1133G>A	9.37:g.104171183G>A	ENSP00000342019:p.Gly378Glu		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G378E	ENST00000339664.2	37	c.1133	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718632	0.48622	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.21361	2.01;2.01;2.01	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000208	T	0.36110	0.0955	L	0.35644	1.08	0.54753	D	0.999988	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.983;0.988;0.981	T	0.02042	-1.1224	10	0.48119	T	0.1	.	15.8307	0.78749	0.0:0.0:1.0:0.0	.	363;364;378	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	E	364;378;336	ENSP00000363995:G364E;ENSP00000342019:G378E;ENSP00000259395:G336E	ENSP00000259395:G336E	G	+	2	0	ZNF189	103211004	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.845000	0.48254	2.861000	0.98227	0.655000	0.94253	GGG	ZNF189	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	G	NM_003452		104171183	1	no_errors	ENST00000339664	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104171183	G	A	104171183	3	1	21	1	0	0	0	0	1	0	0	0	17784	1232	43	4	1143	4	ZNF189	9	104171183	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	24234751	104171183	37042248	138	3061										
GRIN3A	116443	genome.wustl.edu	37	chr9	104499904	104499904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtcccgtggccacagggcctCcgccctggcgccctccccgg	13	21	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:104499904C>T	ENST00000361820.3	-	1	958	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	120					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.E120K(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACAGGGCCTCCGCCCTGGCG	0.716																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.358G>A	9.37:g.104499904C>T	ENSP00000355155:p.Glu120Lys		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.E120K	ENST00000361820.3	37	c.358	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894644	0.33442	.	.	ENSG00000198785	ENST00000361820	T	0.10192	2.9	4.8	4.8	0.61643	.	0.923285	0.09046	N	0.856539	T	0.10551	0.0258	N	0.22421	0.69	0.33827	D	0.629806	B	0.20887	0.049	B	0.19666	0.026	T	0.12578	-1.0542	10	0.36615	T	0.2	.	15.4078	0.74893	0.0:0.8608:0.1392:0.0	.	120	Q8TCU5	NMD3A_HUMAN	K	120	ENSP00000355155:E120K	ENSP00000355155:E120K	E	-	1	0	GRIN3A	103539725	0.959000	0.32827	0.979000	0.43373	0.189000	0.23516	2.466000	0.45084	2.392000	0.81423	0.655000	0.94253	GAG	GRIN3A	-	NULL		0.716	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	C			104499904	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	missense	SNP	0.995	T	T	104499904	C	T	104499904	3	4	21	1	0	0	0	0	1	0	0	0	6803	864	30	1	3025	1	GRIN3A	9	104499904	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	328721	104499904	36713527	139	3062										
BSPRY	54836	genome.wustl.edu	37	chr9	116132318	116132318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttcaggagctgctcttctatGagccagcctccggcacagtg	11	13	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:116132318G>A	ENST00000374183.4	+	6	1144	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	369	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCTCTTCTATGAGCCAGCCTC	0.617																																																	0													41	44	43					9																	116132318		1956	4147	6103	SO:0001583	missense	54836			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.1105G>A	9.37:g.116132318G>A	ENSP00000363298:p.Glu369Lys		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.E369K	ENST00000374183.4	37	c.1105	CCDS43868.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.157899	0.94686	.	.	ENSG00000119411	ENST00000374183	T	0.14144	2.53	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.299257	0.41605	D	0.000842	T	0.26702	0.0653	M	0.72894	2.215	0.54753	D	0.999983	P	0.48998	0.918	P	0.46940	0.532	T	0.01093	-1.1454	10	0.62326	D	0.03	-10.7137	18.7934	0.91983	0.0:0.0:1.0:0.0	.	369	Q5W0U4	BSPRY_HUMAN	K	369	ENSP00000363298:E369K	ENSP00000363298:E369K	E	+	1	0	BSPRY	115172139	1.000000	0.71417	0.925000	0.36789	0.938000	0.57974	9.098000	0.94202	2.688000	0.91661	0.561000	0.74099	GAG	BSPRY	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.617	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPRY	HGNC	protein_coding	OTTHUMT00000055399.1	G	NM_017688		116132318	1	no_errors	ENST00000374183	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116132318	G	A	116132318	3	1	21	1	0	0	0	0	1	0	0	0	1535	1291	45	1	1127	1	BSPRY	9	116132318	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	11632414	116132318	25081113	140	3063										
FAM125B	89853	genome.wustl.edu	37	chr9	129102821	129102821	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcctgaagtcaaagacctctCagaagccttgccagaaacgt	9	12	2	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:129102821C>G	ENST00000361171.3	+	2	197	c.116C>G	c.(115-117)tCa>tGa	p.S39*	MVB12B_ENST00000436593.3_Nonsense_Mutation_p.S24*|MVB12B_ENST00000545391.1_Nonsense_Mutation_p.S39*	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	39					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										AAAGACCTCTCAGAAGCCTTG	0.463																																																	0													113	106	108					9																	129102821		2203	4300	6503	SO:0001587	stop_gained	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.116C>G	9.37:g.129102821C>G	ENSP00000354772:p.Ser39*		Q8N6S7	Nonsense_Mutation	SNP	pfam_FAM125	p.S39*	ENST00000361171.3	37	c.116	CCDS35142.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.297080	0.98192	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593	.	.	.	5.33	5.33	0.75918	.	0.475467	0.24094	N	0.041611	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.9072	17.7946	0.88566	0.0:1.0:0.0:0.0	.	.	.	.	X	39;39;24;24	.	ENSP00000354772:S39X	S	+	2	0	FAM125B	128142642	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.043000	0.76572	2.500000	0.84329	0.637000	0.83480	TCA	FAM125B	-	NULL		0.463	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM125B	HGNC	protein_coding	OTTHUMT00000054110.1	C	XM_088525		129102821	1	no_errors	ENST00000361171	ensembl	human	known	70_37	nonsense	SNP	0.995	G	G	129102821	C	G	129102821	4	3	21	1	0	0	0	0	0	1	0	0	5443	838	29	1	122	1	FAM125B	9	129102821	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	12970503	129102821	12110610	141	3064										
NTNG2	84628	genome.wustl.edu	37	chr9	135042303	135042303	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcaaatcctgggtgaccacaGatgagggccccacctgggag	14	12	0	3	rs138493692		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:135042303G>C	ENST00000393229.3	+	2	861	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NTNG2_ENST00000372179.3_Missense_Mutation_p.D29H|NTNG2_ENST00000360670.3_Missense_Mutation_p.D29H|NTNG2_ENST00000393228.4_Missense_Mutation_p.D29H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	29					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTGACCACAGATGAGGGCCC	0.607																																																	0													101	104	103					9																	135042303		2203	4300	6503	SO:0001583	missense	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.85G>C	9.37:g.135042303G>C	ENSP00000376921:p.Asp29His		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.D29H	ENST00000393229.3	37	c.85	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524133	0.85600	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.77229	-0.32;-1.08;-1.08;-0.32	5.23	5.23	0.72850	.	0.069925	0.52532	D	0.000064	T	0.80665	0.4666	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	P	0.61275	0.886	T	0.80883	-0.1183	10	0.42905	T	0.14	.	17.7839	0.88532	0.0:0.0:1.0:0.0	.	29	Q96CW9	NTNG2_HUMAN	H	29	ENSP00000376921:D29H;ENSP00000376920:D29H;ENSP00000353888:D29H;ENSP00000361252:D29H	ENSP00000353888:D29H	D	+	1	0	NTNG2	134032124	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	9.864000	0.99589	2.425000	0.82216	0.561000	0.74099	GAT	NTNG2	-	NULL		0.607	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	G	NM_032536		135042303	1	no_errors	ENST00000360670	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135042303	G	C	135042303	3	2	21	1	0	0	0	0	1	0	0	0	10729	942	33	1	87	1	NTNG2	9	135042303	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5939482	135042303	6171128	142	3065										
CACNA1B	774	genome.wustl.edu	37	chr9	140997167	140997167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgggacgggtttccagtgggCgcatcagttacaatgacatg	14	8	1	1	rs370345897		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:140997167C>T	ENST00000371372.1	+	38	5372	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1742C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R937C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1741C|CACNA1B_ENST00000371365.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1744C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1743C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1743	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.R1743C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCAGTGGGCGCATCAGTTA	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	1,3877		0,1,1938	49	54	52		5227	4.7	1	9		52	0,8240		0,0,4120	no	missense	CACNA1B	NM_000718.3	180	0,1,6058	TT,TC,CC		0.0,0.0258,0.0083	probably-damaging	1743/2340	140997167	1,12117	1939	4120	6059	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5227C>T	9.37:g.140997167C>T	ENSP00000360423:p.Arg1743Cys		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1744C	ENST00000371372.1	37	c.5230	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533162	0.64972	2.58E-4	0.0	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97598	-4.2;-4.2;-4.45;-4.19;-4.17;-4.19	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	D	0.99719	1.1009	10	0.72032	D	0.01	.	17.6591	0.88187	0.0:1.0:0.0:0.0	.	1742;1741	B1AQK7;B1AQK6	.;.	C	1743;1743;937;1741;1742;1744	ENSP00000360423:R1743C;ENSP00000277551:R1743C;ENSP00000277549:R937C;ENSP00000360414:R1741C;ENSP00000360408:R1742C;ENSP00000360406:R1744C	ENSP00000277549:R937C	R	+	1	0	CACNA1B	140116988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.943000	0.70211	2.159000	0.67721	0.555000	0.69702	CGC	CACNA1B	-	pfscan_EF_HAND_2		0.627	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140997167	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140997167	C	T	140997167	3	4	21	1	0	0	0	0	1	0	0	0	2544	768	27	2	5373	2	CACNA1B	9	140997167	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5954864	140997167	216264	143	3066										
CACNA1B	774	genome.wustl.edu	37	chr9	141010114	141010114	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagaagagttccacctccctCagcaatggcggggccatgtg	12	13	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr9:141010114C>T	ENST00000371372.1	+	42	5905	c.5760C>T	c.(5758-5760)ctC>ctT	p.L1920L	CACNA1B_ENST00000371357.1_Silent_p.L1919L|CACNA1B_ENST00000277549.5_Silent_p.L1114L|CACNA1B_ENST00000371363.1_Silent_p.L1918L|CACNA1B_ENST00000371355.4_Silent_p.L1921L|CACNA1B_ENST00000277551.2_Silent_p.L1920L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1920					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACCTCCCTCAGCAATGGCG	0.577																																																	0													64	67	66					9																	141010114		1967	4148	6115	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5760C>T	9.37:g.141010114C>T			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.L1921	ENST00000371372.1	37	c.5763	CCDS59522.1	9																																																																																			CACNA1B	-	NULL		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		141010114	1	no_errors	ENST00000371355	ensembl	human	known	70_37	silent	SNP	0.996	T	T	141010114	C	T	141010114	2	4	21	1	0	0	0	0	0	0	0	1	2544	813	29	1		1	CACNA1B	9	141010114	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	12947	141010114	203317	144	3067										
IDI2	91734	genome.wustl.edu	37	chr10	1070526	1070526	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aatgggcgggggctacctttCtcaatgttttcgttcagatg	12	8	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:1070526C>T	ENST00000277517.1	-	2	202	c.138G>A	c.(136-138)gaG>gaA	p.E46E	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	46					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGCTACCTTTCTCAATGTTTT	0.493																																																	0													105	94	98					10																	1070526		2203	4300	6503	SO:0001819	synonymous_variant	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.138G>A	10.37:g.1070526C>T				Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E46	ENST00000277517.1	37	c.138	CCDS7055.1	10																																																																																			IDI2	-	superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.493	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	C	NM_033261		1070526	-1	no_errors	ENST00000277517	ensembl	human	known	70_37	silent	SNP	0.381	T	T	1070526	C	T	1070526	2	4	21	1	0	0	0	0	0	0	0	1	7520	912	32	1		1	IDI2	10	1070526	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		1070526	134464221	145	3068										
DCLRE1C	64421	genome.wustl.edu	37	chr10	14995991	14995991	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agttggatactcggccatctGcccctcgaaagaactcatag	9	12	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:14995991G>A	ENST00000378278.2	-	1	56	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378289.4_Nonsense_Mutation_p.Q7*			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	7					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCGGCCATCTGCCCCTCGAAA	0.622								Non-homologous end-joining																																									0													58	62	60					10																	14995991		2203	4300	6503	SO:0001587	stop_gained	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.19C>T	10.37:g.14995991G>A	ENSP00000367527:p.Gln7*		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Nonsense_Mutation	SNP	pfam_DRMBL	p.Q7*	ENST00000378278.2	37	c.19	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.315623	0.98207	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	.	.	.	5.74	5.74	0.90152	.	0.052797	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	16.1814	0.81903	0.0:0.1333:0.8667:0.0	.	.	.	.	X	7	.	ENSP00000367527:Q7X	Q	-	1	0	DCLRE1C	15035997	1.000000	0.71417	0.971000	0.41717	0.950000	0.60333	5.327000	0.65881	2.873000	0.98535	0.561000	0.74099	CAG	DCLRE1C	-	NULL		0.622	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	G	NM_022487		14995991	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	14995991	G	A	14995991	4	1	21	1	0	0	0	0	0	1	0	0	4301	1328	46	4	2115	4	DCLRE1C	10	14995991	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	13925465	14995991	120538756	146	3069										
IPMK	253430	genome.wustl.edu	37	chr10	59976022	59976022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tttttgccctatctttacatCcattatacagggcttattaa	4	9	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:59976022C>T	ENST00000373935.3	-	4	752	c.430G>A	c.(430-432)Gat>Aat	p.D144N		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	144	Substrate binding. {ECO:0000250}.				inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ATCTTTACATCCATTATACAG	0.328																																																	0													84	76	79					10																	59976022		2203	4300	6503	SO:0001583	missense	253430			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.430G>A	10.37:g.59976022C>T	ENSP00000363046:p.Asp144Asn			Missense_Mutation	SNP	pfam_IPK	p.D144N	ENST00000373935.3	37	c.430	CCDS7250.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.490889	0.96339	.	.	ENSG00000151151	ENST00000373935	T	0.73575	-0.76	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.93594	3.435	0.80722	D	1	P	0.49961	0.93	P	0.58391	0.838	D	0.90899	0.4767	9	.	.	.	-1.8043	17.4271	0.87529	0.0:1.0:0.0:0.0	.	144	Q8NFU5	IPMK_HUMAN	N	144	ENSP00000363046:D144N	.	D	-	1	0	IPMK	59646028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.712000	0.84684	2.702000	0.92279	0.655000	0.94253	GAT	IPMK	-	pfam_IPK		0.328	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPMK	HGNC	protein_coding	OTTHUMT00000048142.1	C	NM_152230		59976022	-1	no_errors	ENST00000373935	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59976022	C	T	59976022	3	4	21	1	0	0	0	0	1	0	0	0	7812	855	30	1	832	1	IPMK	10	59976022	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	44980031	59976022	75558725	147	3070										
SEC24C	9632	genome.wustl.edu	37	chr10	75525312	75525312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gttcattgaaggagggaggcGtttccagtgctgtttttgca	14	6	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:75525312G>A	ENST00000339365.2	+	10	1493	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.R444H|SEC24C_ENST00000411652.2_Missense_Mutation_p.R325H|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.R222H	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	444	Zinc finger-like.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGAGGGAGGCGTTTCCAGTGC	0.473																																																	0													197	156	170					10																	75525312		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1331G>A	10.37:g.75525312G>A	ENSP00000343405:p.Arg444His		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R444H	ENST00000339365.2	37	c.1331	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137497	0.77775	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.86	5.86	0.93980	Zinc finger, Sec23/Sec24-type (2);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	M	0.66560	2.04	0.80722	D	1	P;P;P	0.40032	0.518;0.65;0.699	B;B;B	0.31337	0.036;0.078;0.128	T	0.78947	-0.2003	10	0.59425	D	0.04	-5.8653	20.1858	0.98214	0.0:0.0:1.0:0.0	.	325;444;444	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	H	222;444;444;325	ENSP00000446333:R222H;ENSP00000321845:R444H;ENSP00000343405:R444H;ENSP00000402913:R325H	ENSP00000343405:R444H	R	+	2	0	SEC24C	75195318	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.018000	0.88722	2.777000	0.95525	0.591000	0.81541	CGT	SEC24C	-	pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24		0.473	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75525312	1	no_errors	ENST00000339365	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75525312	G	A	75525312	3	1	21	1	0	0	0	0	1	0	0	0	14026	1145	40	2	1361	2	SEC24C	10	75525312	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	15549290	75525312	60009435	148	3071										
NDST2	8509	genome.wustl.edu	37	chr10	75567715	75567715	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcatccaggttgacatacttGagcaggttctcataaatgac	9	9	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:75567715G>C	ENST00000309979.6	-	3	988	c.432C>G	c.(430-432)ctC>ctG	p.L144L	NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Silent_p.L21L|RP11-574K11.31_ENST00000603027.1_Silent_p.L144L			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	144	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGACATACTTGAGCAGGTTCT	0.527																																																	0													104	101	102					10																	75567715		2203	4300	6503	SO:0001819	synonymous_variant	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.432C>G	10.37:g.75567715G>C			Q2TB32|Q59H89	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.L144	ENST00000309979.6	37	c.432	CCDS7335.1	10																																																																																			NDST2	-	pfam_Heparan_SO4_deacetylase		0.527	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	G	NM_003635		75567715	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	silent	SNP	0.821	C	C	75567715	G	C	75567715	2	2	21	1	0	0	0	0	0	0	0	1	10280	1277	45	1		1	NDST2	10	75567715	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	42403	75567715	59967032	149	3072										
FAS	355	genome.wustl.edu	37	chr10	90773980	90773980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcaatgaagccaaaatagatGagatcaagaatgacaatgtc	8	6	2	5			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:90773980G>A	ENST00000355740.2	+	9	1001	c.781G>A	c.(781-783)Gag>Aag	p.E261K	FAS_ENST00000355279.2_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.E240K|FAS_ENST00000352159.4_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CAAAATAGATGAGATCAAGAA	0.378																																																	0													125	116	119					10																	90773980		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.781G>A	10.37:g.90773980G>A	ENSP00000347979:p.Glu261Lys		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.E261K	ENST00000355740.2	37	c.781	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369578	0.82463	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.94184	-3.37;-3.37	4.65	3.66	0.41972	Death (3);DEATH-like (2);	0.795670	0.11554	N	0.552457	D	0.95452	0.8523	M	0.79926	2.475	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.59056	0.851;0.845	D	0.93684	0.7001	10	0.46703	T	0.11	-22.8945	10.006	0.41957	0.0:0.2055:0.7944:0.0	.	240;261	P25445-6;P25445	.;TNR6_HUMAN	K	288;261;240	ENSP00000347979:E261K;ENSP00000349896:E240K	ENSP00000347979:E261K	E	+	1	0	FAS	90763960	0.868000	0.29978	1.000000	0.80357	0.993000	0.82548	2.005000	0.40864	2.523000	0.85059	0.650000	0.86243	GAG	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.378	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90773980	1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90773980	G	A	90773980	3	1	21	1	0	0	0	0	1	0	0	0	5699	1291	45	1	815	1	FAS	10	90773980	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	15206265	90773980	44760767	150	3073										
KIF20B	9585	genome.wustl.edu	37	chr10	91497810	91497810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	taaagagattgtgaaggcctCttccaaaaaaagtcatcaga	8	7	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:91497810C>T	ENST00000371728.3	+	20	3277	c.3212C>T	c.(3211-3213)tCt>tTt	p.S1071F	KIF20B_ENST00000260753.4_Missense_Mutation_p.S1031F|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.S1101F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1071F	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1071					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTGAAGGCCTCTTCCAAAAAA	0.348																																																	0													52	60	58					10																	91497810		2192	4290	6482	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3212C>T	10.37:g.91497810C>T	ENSP00000360793:p.Ser1071Phe		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1101F	ENST00000371728.3	37	c.3302		10	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131105	0.56828	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71461	-0.53;-0.57;-0.56;-0.49	5.57	5.57	0.84162	.	0.000000	0.51477	D	0.000100	D	0.83718	0.5315	M	0.67953	2.075	0.49389	D	0.999784	D;D	0.89917	1.0;1.0	D;D	0.78314	0.98;0.991	D	0.84685	0.0719	10	0.72032	D	0.01	-4.9995	19.5406	0.95272	0.0:1.0:0.0:0.0	.	1071;1031	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	F	1031;1101;1071;1071	ENSP00000260753:S1031F;ENSP00000411545:S1101F;ENSP00000377830:S1071F;ENSP00000360793:S1071F	ENSP00000260753:S1031F	S	+	2	0	KIF20B	91487790	0.998000	0.40836	0.657000	0.29651	0.505000	0.33919	5.555000	0.67301	2.606000	0.88127	0.591000	0.81541	TCT	KIF20B	-	NULL		0.348	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91497810	1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.996	T	T	91497810	C	T	91497810	3	4	21	1	0	0	0	0	1	0	0	0	8307	913	32	1	3166	1	KIF20B	10	91497810	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	723830	91497810	44036937	151	3074										
BTAF1	9044	genome.wustl.edu	37	chr10	93757460	93757460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagacagacagtgtgagattCatggccacgcagtgctttgc	12	10	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:93757460C>T	ENST00000265990.6	+	25	3920	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	BTAF1_ENST00000544642.1_Silent_p.F32F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1204					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTGTGAGATTCATGGCCACGC	0.378																																																	0													170	143	152					10																	93757460		2203	4300	6503	SO:0001819	synonymous_variant	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3612C>T	10.37:g.93757460C>T			B4E0W6|O43578	Silent	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F1204	ENST00000265990.6	37	c.3612	CCDS7419.1	10																																																																																			BTAF1	-	superfamily_ARM-type_fold		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	C	NM_003972		93757460	1	no_errors	ENST00000265990	ensembl	human	known	70_37	silent	SNP	1.000	T	T	93757460	C	T	93757460	2	4	21	1	0	0	0	0	0	0	0	1	1539	825	29	1		1	BTAF1	10	93757460	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2259650	93757460	41777287	152	3075										
MYOF	26509	genome.wustl.edu	37	chr10	95088619	95088619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tttgaatctggcgacattttGaagcagctgtgttggtctca	11	7	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:95088619G>A	ENST00000359263.4	-	45	5031	c.5032C>T	c.(5032-5034)Caa>Taa	p.Q1678*	MYOF_ENST00000371502.4_Nonsense_Mutation_p.Q1697*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.Q1665*|MYOF_ENST00000371501.4_Nonsense_Mutation_p.Q1678*|MYOF_ENST00000485212.1_5'UTR	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1678					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCGACATTTTGAAGCAGCTGT	0.493																																																	0													330	310	317					10																	95088619		1959	4138	6097	SO:0001587	stop_gained	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5032C>T	10.37:g.95088619G>A	ENSP00000352208:p.Gln1678*		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.Q1678*	ENST00000359263.4	37	c.5032	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	45	12.023725	0.99628	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	.	.	.	4.79	1.75	0.24633	.	0.850185	0.10948	N	0.616427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.6305	9.0931	0.36623	0.0732:0.0:0.6644:0.2624	.	.	.	.	X	1665;1678;1678;1697	.	ENSP00000351094:Q1665X	Q	-	1	0	MYOF	95078609	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	2.055000	0.41345	1.216000	0.43427	0.561000	0.74099	CAA	MYOF	-	NULL		0.493	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	G	NM_013451		95088619	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	95088619	G	A	95088619	4	1	21	1	0	0	0	0	0	1	0	0	10112	1299	45	1	1193	1	MYOF	10	95088619	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1331159	95088619	40446128	153	3076										
EIF3A	340719	genome.wustl.edu	37	chr10	120796821	120796821	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cttctccagccaccttcatcCctgtagccatttacaatgac	4	16	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:120796821C>T	ENST00000425699.1	+	0	4627				EIF3A_ENST00000369144.3_Splice_Site_p.R1243R|EIF3A_ENST00000541549.1_Splice_Site_p.R1209R	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		CACCTTCATCCCTGTAGCCAT	0.478																																																	0													59	55	56					10																	120796821		2203	4300	6503	SO:0001628	intergenic_variant	8661			AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120796821C>T				Silent	SNP	pfam_PCI_dom,smart_PCI_dom	p.R1243	ENST00000425699.1	37	c.3729	CCDS7607.1	10																																																																																			EIF3A	-	NULL		0.478	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000110794.1	C			120796821	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	silent	SNP	1.000	T	T	120796821	C	T	120796821	1	4	21	0	1	0	0	0	0	0	0	0	5022	637	22	4		4	EIF3A	10	120796821	IGR	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	25708202	120796821	14737926	154	3077										
PLEKHA1	59338	genome.wustl.edu	37	chr10	124184411	124184411	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttggatttttttttcatacaGcgacataatgatgagggaca	9	5	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:124184411G>A	ENST00000368990.3	+	10	877		c.e10-1		PLEKHA1_ENST00000368988.1_Splice_Site|PLEKHA1_ENST00000433307.1_Splice_Site|PLEKHA1_ENST00000368989.2_Splice_Site|PLEKHA1_ENST00000538022.1_Splice_Site	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1						androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTTCATACAGCGACATAATG	0.343																																																	0													90	91	91					10																	124184411		2203	4300	6503	SO:0001630	splice_region_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.747-1G>A	10.37:g.124184411G>A			B3KQ55|D3DRE2|Q9BVK0	Splice_Site	SNP	-	e9-1	ENST00000368990.3	37	c.747-1	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129966	0.77549	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9084	0.92472	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA1	124174401	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.203000	0.95033	2.640000	0.89533	0.650000	0.86243	.	PLEKHA1	-	-		0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974	Intron	124184411	1	no_errors	ENST00000368990	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	124184411	G	A	124184411	5	1	21	1	0	0	0	0	0	0	1	0	12079	985	34	4	780	4	PLEKHA1	10	124184411	Splice_Site	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	3387590	124184411	11350336	155	3078										
CUZD1	50624	genome.wustl.edu	37	chr10	124596954	124596954	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtttagttttatcttgtaatCtttctccacttgtatgtgcc	6	8	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr10:124596954C>G	ENST00000368904.1	-	6	1514	c.565G>C	c.(565-567)Gat>Cat	p.D189H	CUZD1_ENST00000545804.1_Missense_Mutation_p.D189H|CUZD1_ENST00000392790.1_Missense_Mutation_p.D189H					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ATCTTGTAATCTTTCTCCACT	0.453																																																	0													118	113	114					10																	124596954		2203	4300	6503	SO:0001583	missense	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.565G>C	10.37:g.124596954C>G	ENSP00000357900:p.Asp189His			Missense_Mutation	SNP	pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom	p.D189H	ENST00000368904.1	37	c.565	CCDS7631.1	10	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133883	0.37630	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.35973	1.28;1.28;1.28	4.75	2.88	0.33553	CUB (5);	0.461691	0.23656	N	0.045864	T	0.19685	0.0473	N	0.17312	0.475	0.22541	N	0.999004	B	0.20550	0.046	B	0.17098	0.017	T	0.14008	-1.0488	10	0.62326	D	0.03	-8.1077	5.119	0.14851	0.0:0.5692:0.0:0.4308	.	189	Q86UP6	CUZD1_HUMAN	H	189	ENSP00000357900:D189H;ENSP00000441590:D189H;ENSP00000376540:D189H	ENSP00000357900:D189H	D	-	1	0	CUZD1	124586944	0.008000	0.16893	0.998000	0.56505	0.991000	0.79684	1.518000	0.35877	0.997000	0.38969	0.563000	0.77884	GAT	CUZD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.453	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	HGNC	protein_coding	OTTHUMT00000050829.2	C	NM_022034		124596954	-1	no_errors	ENST00000368904	ensembl	human	known	70_37	missense	SNP	0.927	G	G	124596954	C	G	124596954	3	3	21	1	0	0	0	0	1	0	0	0	4071	913	32	1	1282	1	CUZD1	10	124596954	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	412543	124596954	10937793	156	3079										
BRSK2	9024	genome.wustl.edu	37	chr11	1464750	1464750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cttcgacgatgacaacttgcGacagctgctggagaaggtga	13	9	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:1464750G>A	ENST00000528841.1	+	8	1049	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	BRSK2_ENST00000528710.1_Missense_Mutation_p.R162Q|BRSK2_ENST00000308230.5_Missense_Mutation_p.R222Q|BRSK2_ENST00000526678.1_Missense_Mutation_p.R222Q|BRSK2_ENST00000308219.9_Missense_Mutation_p.R222Q|BRSK2_ENST00000531197.1_Missense_Mutation_p.R222Q|BRSK2_ENST00000382179.1_Missense_Mutation_p.R268Q|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GACAACTTGCGACAGCTGCTG	0.672																																																	0													23	28	26					11																	1464750		2171	4286	6457	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.665G>A	11.37:g.1464750G>A	ENSP00000432000:p.Arg222Gln		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.R268Q	ENST00000528841.1	37	c.803	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002035	0.93227	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	3.27	3.27	0.37495	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.55721	0.1938	N	0.02296	-0.605	0.80722	D	1	P;D;P;D;D	0.76494	0.936;0.998;0.886;0.999;0.999	P;P;P;D;D	0.71184	0.574;0.852;0.574;0.972;0.933	T	0.71144	-0.4678	10	0.72032	D	0.01	.	15.0629	0.71970	0.0:0.0:1.0:0.0	.	222;268;222;222;222	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	Q	222;222;222;222;222;162;268	ENSP00000310697:R222Q;ENSP00000431152:R222Q;ENSP00000310805:R222Q;ENSP00000432000:R222Q;ENSP00000433370:R222Q;ENSP00000433235:R162Q;ENSP00000371614:R268Q	ENSP00000310697:R222Q	R	+	2	0	BRSK2	1421326	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.087000	0.94110	1.839000	0.53478	0.313000	0.20887	CGA	BRSK2	-	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		0.672	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	G	NM_003957		1464750	1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1464750	G	A	1464750	3	1	21	1	0	0	0	0	1	0	0	0	1527	1058	37	1	695	1	BRSK2	11	1464750	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		1464750	133541766	157	3080										
DENND5A	23258	genome.wustl.edu	37	chr11	9199895	9199895	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gggcaggtagggctcaggctGatctgacagaaaagatgcct	15	8	2	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:9199895G>C	ENST00000328194.3	-	8	2010	c.1690C>G	c.(1690-1692)Cag>Gag	p.Q564E	DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_Missense_Mutation_p.Q564E	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	564	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCAGGCTGATCTGACAGA	0.428																																																	0													60	56	57					11																	9199895		2201	4296	6497	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1690C>G	11.37:g.9199895G>C	ENSP00000328524:p.Gln564Glu		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.Q564E	ENST00000328194.3	37	c.1690	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735708	0.89482	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.44881	0.91;0.91	5.31	5.31	0.75309	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.969	D;D	0.77557	0.99;0.925	T	0.71262	-0.4645	10	0.87932	D	0	.	19.3465	0.94365	0.0:0.0:1.0:0.0	.	564;564	E9PS91;Q6IQ26	.;DEN5A_HUMAN	E	564	ENSP00000328524:Q564E;ENSP00000435866:Q564E	ENSP00000328524:Q564E	Q	-	1	0	DENND5A	9156471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.647000	0.89833	0.561000	0.74099	CAG	DENND5A	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.428	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	G	NM_015213		9199895	-1	no_errors	ENST00000328194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9199895	G	C	9199895	3	2	21	1	0	0	0	0	1	0	0	0	4446	1299	45	1	2237	1	DENND5A	11	9199895	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7735145	9199895	125806621	158	3081										
OR4C15	81309	genome.wustl.edu	37	chr11	55322251	55322251	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcatgatgcagctctttgctGaacacttctttgctggggtg	12	9	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:55322251G>A	ENST00000314644.2	+	1	469	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTCTTTGCTGAACACTTCTT	0.463										HNSCC(20;0.049)																																							0													141	125	130					11																	55322251		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.469G>A	11.37:g.55322251G>A	ENSP00000324958:p.Glu157Lys		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E157K	ENST00000314644.2	37	c.469	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256791	0.39896	.	.	ENSG00000181939	ENST00000314644	T	0.02944	4.1	5.12	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03915	0.0110	M	0.73962	2.25	0.09310	N	1	B	0.33549	0.417	B	0.29598	0.104	T	0.34976	-0.9807	9	0.38643	T	0.18	.	3.3928	0.07295	0.0929:0.1698:0.5609:0.1763	.	103	Q8NGM1	OR4CF_HUMAN	K	157	ENSP00000324958:E157K	ENSP00000324958:E157K	E	+	1	0	OR4C15	55078827	0.000000	0.05858	0.995000	0.50966	0.723000	0.41478	-0.360000	0.07622	2.665000	0.90641	0.385000	0.25706	GAA	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	G	NM_001001920		55322251	1	no_errors	ENST00000314644	ensembl	human	known	70_37	missense	SNP	0.001	A	A	55322251	G	A	55322251	3	1	21	1	0	0	0	0	1	0	0	0	11072	1291	45	1	471	1	OR4C15	11	55322251	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	46122356	55322251	79684265	159	3082										
FAM111A	63901	genome.wustl.edu	37	chr11	58920959	58920959	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagcaggatgtagaaatgatGagtgatgaggacttgtgaga	15	3	0	6			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:58920959G>A	ENST00000528737.1	+	5	4636	c.1818G>A	c.(1816-1818)atG>atA	p.M606I	FAM111A_ENST00000361723.3_Missense_Mutation_p.M606I|FAM111A_ENST00000533703.1_Missense_Mutation_p.M606I|FAM111A_ENST00000420244.1_Missense_Mutation_p.M606I|FAM111A_ENST00000531147.1_Missense_Mutation_p.M606I			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	606	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TAGAAATGATGAGTGATGAGG	0.363																																																	0													78	81	80					11																	58920959		2201	4295	6496	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1818G>A	11.37:g.58920959G>A	ENSP00000434435:p.Met606Ile		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.M606I	ENST00000528737.1	37	c.1818	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105772	0.20632	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.87	-1.72	0.08107	.	2.170290	0.01829	N	0.034575	T	0.24661	0.0598	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03566	-1.1024	10	0.16896	T	0.51	-6.0039	1.3666	0.02202	0.2633:0.113:0.3954:0.2283	.	606	Q96PZ2	F111A_HUMAN	I	606	ENSP00000434435:M606I;ENSP00000406683:M606I;ENSP00000355264:M606I;ENSP00000433154:M606I;ENSP00000431631:M606I	ENSP00000355264:M606I	M	+	3	0	FAM111A	58677535	0.000000	0.05858	0.000000	0.03702	0.345000	0.29048	-0.299000	0.08254	-1.001000	0.03434	-0.797000	0.03246	ATG	FAM111A	-	NULL		0.363	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	G	NM_022074		58920959	1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58920959	G	A	58920959	3	1	21	1	0	0	0	0	1	0	0	0	5414	1290	45	1	1824	1	FAM111A	11	58920959	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	3598708	58920959	76085557	160	3083										
TRPT1	83707	genome.wustl.edu	37	chr11	63991404	63991404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cttggggctactctgacactCtgtctcttcatcaccagcca	7	15	5	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:63991404C>T	ENST00000317459.6	-	8	874	c.706G>A	c.(706-708)Gag>Aag	p.E236K	NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000394547.3_Missense_Mutation_p.E187K|TRPT1_ENST00000541278.1_Missense_Mutation_p.E199K|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000546133.1_Missense_Mutation_p.E94K|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000546089.1_Missense_Mutation_p.E150K|TRPT1_ENST00000394546.2_Missense_Mutation_p.E238K			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	236					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CTCTGACACTCTGTCTCTTCA	0.403																																																	0													75	76	76					11																	63991404		2201	4297	6498	SO:0001583	missense	83707				CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"tRNA splicing 2' phosphotransferase 1"	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.706G>A	11.37:g.63991404C>T	ENSP00000314073:p.Glu236Lys		A8MU17|A8MYC9|F5H2B2|Q9BSB9	Missense_Mutation	SNP	pfam_Ptrans_KptA/Tpt1	p.E238K	ENST00000317459.6	37	c.712	CCDS31595.1	11	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038997	0.35989	.	.	ENSG00000149743	ENST00000394547;ENST00000394546;ENST00000541278;ENST00000546133;ENST00000317459;ENST00000546089	T;T;T;T;T;T	0.52057	1.53;1.95;1.23;1.42;1.95;0.68	4.62	3.71	0.42584	.	0.398408	0.21376	N	0.075550	T	0.35913	0.0948	L	0.32530	0.975	0.09310	N	0.999995	B;B;P;P	0.42692	0.025;0.361;0.787;0.546	B;B;B;B	0.41510	0.031;0.054;0.359;0.141	T	0.13282	-1.0515	10	0.37606	T	0.19	-11.7065	8.7709	0.34731	0.0:0.8967:0.0:0.1033	.	199;238;187;236	F5H2B2;A8MU17;Q86TN4-2;Q86TN4	.;.;.;TRPT1_HUMAN	K	187;238;199;94;236;150	ENSP00000378051:E187K;ENSP00000378050:E238K;ENSP00000438683:E199K;ENSP00000439586:E94K;ENSP00000314073:E236K;ENSP00000437741:E150K	ENSP00000314073:E236K	E	-	1	0	TRPT1	63747980	0.003000	0.15002	0.492000	0.27490	0.729000	0.41735	1.141000	0.31528	1.327000	0.45338	0.561000	0.74099	GAG	TRPT1	-	NULL		0.403	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPT1	HGNC	protein_coding	OTTHUMT00000396579.1	C	NM_031472		63991404	-1	no_errors	ENST00000394546	ensembl	human	known	70_37	missense	SNP	0.300	T	T	63991404	C	T	63991404	3	4	21	1	0	0	0	0	1	0	0	0	16625	922	32	1	59	1	TRPT1	11	63991404	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5070445	63991404	71015112	161	3084										
PELI3	246330	genome.wustl.edu	37	chr11	66238754	66238754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggggacaagggccgccggcGaagccgcctggcactgagcc	17	14	0	1	rs541571878		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:66238754G>A	ENST00000320740.7	+	4	426	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.R65Q	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	89					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R89Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCCGGCGAAGCCGCCTG	0.597													G|||	1	0.000199681	8e-04	0	5008	,	,		12020	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	breast(1)											72	81	78					11																	66238754		2200	4295	6495	SO:0001583	missense	246330			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.266G>A	11.37:g.66238754G>A	ENSP00000322532:p.Arg89Gln		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino	p.R89Q	ENST00000320740.7	37	c.266	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038870	0.93630	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000527230	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.56411	0.1983	L	0.55213	1.73	0.46149	D	0.998897	D;D;D	0.64830	0.967;0.99;0.994	B;P;P	0.58928	0.388;0.657;0.848	T	0.56547	-0.7961	10	0.54805	T	0.06	-9.5914	9.7476	0.40457	0.0907:0.0:0.9093:0.0	.	65;89;89	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Q	65;89;89;89	ENSP00000309848:R65Q;ENSP00000322532:R89Q;ENSP00000434677:R89Q;ENSP00000432449:R89Q	ENSP00000322532:R89Q	R	+	2	0	PELI3	65995330	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	1.231000	0.32624	2.735000	0.93741	0.655000	0.94253	CGA	PELI3	-	pfam_Pellino		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	G	NM_145065		66238754	1	no_errors	ENST00000320740	ensembl	human	known	70_37	missense	SNP	0.988	A	A	66238754	G	A	66238754	3	1	21	1	0	0	0	0	1	0	0	0	11747	1058	37	1	276	1	PELI3	11	66238754	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2247350	66238754	68767762	162	3085										
C11orf80	79703	genome.wustl.edu	37	chr11	66605850	66605850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tttttaagcagctaaccctaGaaaaaaaggactcagcccag	7	10	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:66605850G>C	ENST00000360962.4	+	15	1688	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q	C11orf80_ENST00000540737.1_Missense_Mutation_p.E395Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.E343Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.E370Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.E369Q|C11orf80_ENST00000527634.1_Missense_Mutation_p.E344Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	561										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCTAACCCTAGAAAAAAAGGA	0.478																																																	0													77	74	75					11																	66605850		1850	4102	5952	SO:0001583	missense	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1681G>C	11.37:g.66605850G>C	ENSP00000354227:p.Glu561Gln		Q9H677	Missense_Mutation	SNP	NULL	p.E561Q	ENST00000360962.4	37	c.1681	CCDS53664.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.24|18.24	3.581119|3.581119	0.65992|0.65992	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000531415	T|.	0.54279|.	0.58|.	3.84|3.84	2.9|2.9	0.33743|0.33743	.|.	1.332800|.	0.05291|.	N|.	0.521095|.	T|.	0.25232|.	0.0613|.	N|N	0.19112|0.19112	0.55|0.55	0.21386|0.21386	N|N	0.999709|0.999709	P;P;P;P;P|.	0.50943|.	0.94;0.94;0.873;0.873;0.873|.	P;P;B;B;B|.	0.47015|.	0.534;0.534;0.412;0.412;0.412|.	T|.	0.18967|.	-1.0320|.	10|.	0.46703|.	T|.	0.11|.	-6.4029|-6.4029	9.3366|9.3366	0.38054|0.38054	0.0:0.2191:0.7809:0.0|0.0:0.2191:0.7809:0.0	.|.	395;370;344;406;396|.	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8|.	.;.;.;CK080_HUMAN;.|.	Q|Y	561;370;344;396;395;370|114	ENSP00000354227:E561Q|.	ENSP00000317408:E370Q|.	E|X	+|+	1|3	0|2	C11orf80|C11orf80	66362426|66362426	0.733000|0.733000	0.28132|0.28132	0.257000|0.257000	0.24404|0.24404	0.634000|0.634000	0.38068|0.38068	0.739000|0.739000	0.26173|0.26173	1.154000|1.154000	0.42482|0.42482	0.655000|0.655000	0.94253|0.94253	GAA|TAG	C11orf80	-	NULL		0.478	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		G	NM_024650		66605850	1	no_errors	ENST00000360962	ensembl	human	known	70_37	missense	SNP	0.439	C	C	66605850	G	C	66605850	3	2	21	1	0	0	0	0	1	0	0	0	1668	943	33	1	1739	1	C11orf80	11	66605850	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	367096	66605850	68400666	163	3086										
CABP4	57010	genome.wustl.edu	37	chr11	67225845	67225845	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctttgcggggaccttagtttGacagggacagggatggacga	16	7	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:67225845G>C	ENST00000325656.5	+	5	732	c.655G>C	c.(655-657)Gac>Cac	p.D219H	CTC-1337H24.1_ENST00000602912.1_lincRNA|CABP4_ENST00000438189.2_Missense_Mutation_p.D114H	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	219	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACCTTAGTTTGACAGGGACAG	0.552																																																	0													61	63	62					11																	67225845		2200	4295	6495	SO:0001583	missense	57010			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.655G>C	11.37:g.67225845G>C	ENSP00000324960:p.Asp219His		Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D219H	ENST00000325656.5	37	c.655	CCDS8166.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586677	0.86851	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	D;D	0.95885	-3.84;-3.84	4.52	4.52	0.55395	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99066	1.0832	10	0.87932	D	0	-33.5195	16.5228	0.84321	0.0:0.0:1.0:0.0	.	219;114	P57796;P57796-2	CABP4_HUMAN;.	H	114;219	ENSP00000401555:D114H;ENSP00000324960:D219H	ENSP00000324960:D219H	D	+	1	0	CABP4	66982421	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.497000	0.90488	2.504000	0.84457	0.655000	0.94253	GAC	CABP4	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.552	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP4	HGNC	protein_coding	OTTHUMT00000397624.2	G			67225845	1	no_errors	ENST00000325656	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67225845	G	C	67225845	3	2	21	1	0	0	0	0	1	0	0	0	2538	1290	45	1	673	1	CABP4	11	67225845	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	619995	67225845	67780671	164	3087										
ODZ4	26011	genome.wustl.edu	37	chr11	78437208	78437208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttcatagccctgcagcactgTtgttcttttttcccacagga	7	12	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:78437208T>C	ENST00000278550.7	-	23	3928	c.3466A>G	c.(3466-3468)Aca>Gca	p.T1156A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1156					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGCAGCACTGTTGTTCTTTTT	0.438																																																	0													292	282	285					11																	78437208		1930	4129	6059	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3466A>G	11.37:g.78437208T>C	ENSP00000278550:p.Thr1156Ala		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T1156A	ENST00000278550.7	37	c.3466	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829443	0.16749	.	.	ENSG00000149256	ENST00000278550	D	0.88664	-2.41	5.32	4.41	0.53225	.	0.000000	0.85682	N	0.000000	T	0.65386	0.2686	N	0.00446	-1.495	0.24453	N	0.994479	B	0.02656	0.0	B	0.01281	0.0	T	0.54682	-0.8257	9	.	.	.	.	12.2474	0.54578	0.0:0.8629:0.0:0.1371	.	1156	Q6N022	TEN4_HUMAN	A	1156	ENSP00000278550:T1156A	.	T	-	1	0	ODZ4	78114856	1.000000	0.71417	0.725000	0.30721	0.982000	0.71751	4.836000	0.62789	0.832000	0.34804	-0.119000	0.15052	ACA	TENM4	-	NULL		0.438	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	T			78437208	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	0.997	C	C	78437208	T	C	78437208	3	2	21	1	0	0	0	0	1	0	0	0	10861	1725	60	5	4891	5	ODZ4	11	78437208	Missense_Mutation	SNP	T	TCGA-C5-A1MH-01A-11D-A14W-08	11211363	78437208	56569308	165	3088										
ATM	472	genome.wustl.edu	37	chr11	108123635	108123635	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	attttttccaaagcgtgccaGaatggtatgttatctaataa	7	6	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:108123635G>A	ENST00000452508.2	+	13	2083	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ATM_ENST00000278616.4_Missense_Mutation_p.E632K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	632					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGCGTGCCAGAATGGTATGT	0.313			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													82	76	78					11																	108123635		2201	4295	6496	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1894G>A	11.37:g.108123635G>A	ENSP00000388058:p.Glu632Lys		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E632K	ENST00000452508.2	37	c.1894	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387704	0.42308	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.01918	4.56;4.86;4.86	5.75	4.82	0.62117	Armadillo-type fold (1);	0.563208	0.18784	N	0.131252	T	0.03348	0.0097	L	0.53249	1.67	0.29179	N	0.876636	B	0.10296	0.003	B	0.10450	0.005	T	0.13818	-1.0495	10	0.34782	T	0.22	.	10.2404	0.43308	0.0691:0.255:0.6759:0.0	.	632	Q13315	ATM_HUMAN	K	632	ENSP00000435747:E632K;ENSP00000278616:E632K;ENSP00000388058:E632K	ENSP00000278616:E632K	E	+	1	0	ATM	107628845	0.999000	0.42202	1.000000	0.80357	0.854000	0.48673	1.050000	0.30404	1.396000	0.46663	0.460000	0.39030	GAA	ATM	-	superfamily_ARM-type_fold		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108123635	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	0.998	A	A	108123635	G	A	108123635	3	1	21	1	0	0	0	0	1	0	0	0	1110	943	33	1	1936	1	ATM	11	108123635	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	29686427	108123635	26882881	166	3089										
EXPH5	23086	genome.wustl.edu	37	chr11	108384244	108384244	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtatggcttctcattggatGagaggcaggcttatttggaa	13	5	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:108384244G>A	ENST00000265843.4	-	6	2100	c.1990C>T	c.(1990-1992)Cat>Tat	p.H664Y	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.H657Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.H476Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.H588Y	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	664					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCATTGGATGAGAGGCAGGC	0.453																																																	0													99	95	97					11																	108384244		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1990C>T	11.37:g.108384244G>A	ENSP00000265843:p.His664Tyr		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.H664Y	ENST00000265843.4	37	c.1990	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	6.827	0.521771	0.13005	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03831	4.38;4.31;4.16;4.38;4.24;3.79	6.03	0.548	0.17208	.	1.012140	0.07915	N	0.974955	T	0.03827	0.0108	N	0.22421	0.69	0.09310	N	1	B	0.19200	0.034	B	0.21151	0.033	T	0.46261	-0.9204	10	0.39692	T	0.17	-0.3365	5.393	0.16253	0.2409:0.2636:0.4956:0.0	.	664	Q8NEV8	EXPH5_HUMAN	Y	664;588;476;657;508;588;476	ENSP00000265843:H664Y;ENSP00000391966:H588Y;ENSP00000411390:H476Y;ENSP00000432546:H657Y;ENSP00000432683:H588Y;ENSP00000446434:H476Y	ENSP00000265843:H664Y	H	-	1	0	EXPH5	107889454	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	1.093000	0.30939	0.073000	0.16731	-0.262000	0.10625	CAT	EXPH5	-	NULL		0.453	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108384244	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	0.000	A	A	108384244	G	A	108384244	3	1	21	1	0	0	0	0	1	0	0	0	5334	1290	45	1	3983	1	EXPH5	11	108384244	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	260609	108384244	26622272	167	3090										
ZW10	9183	genome.wustl.edu	37	chr11	113619050	113619050	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acagtttttgatgaggcactCagacaagtcctcccagatca	8	11	2	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:113619050C>G	ENST00000200135.3	-	8	1162	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	340					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ATGAGGCACTCAGACAAGTCC	0.413																																																	0													153	142	146					11																	113619050		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1018G>C	11.37:g.113619050C>G	ENSP00000200135:p.Glu340Gln		A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.E340Q	ENST00000200135.3	37	c.1018	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586870	0.46110	.	.	ENSG00000086827	ENST00000200135	T	0.50813	0.73	5.23	5.23	0.72850	.	0.317629	0.37955	N	0.001879	T	0.50939	0.1645	L	0.46741	1.465	0.41770	D	0.98976	B	0.27380	0.177	B	0.43194	0.411	T	0.45469	-0.9259	10	0.25106	T	0.35	-8.5482	13.4818	0.61340	0.0:0.925:0.0:0.075	.	340	O43264	ZW10_HUMAN	Q	340	ENSP00000200135:E340Q	ENSP00000200135:E340Q	E	-	1	0	ZW10	113124260	0.989000	0.36119	0.998000	0.56505	0.963000	0.63663	2.620000	0.46410	2.608000	0.88229	0.561000	0.74099	GAG	ZW10	-	pfam_RZZ-complex_Zw10		0.413	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	C	NM_004724		113619050	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	missense	SNP	0.987	G	G	113619050	C	G	113619050	3	3	21	1	0	0	0	0	1	0	0	0	18277	835	29	1	1357	1	ZW10	11	113619050	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5234806	113619050	21387466	168	3091										
MPZL2	10205	genome.wustl.edu	37	chr11	118134829	118134829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acctgtgagctgtatgccaaGgagaagaagcaccgcacgag	13	10	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr11:118134829G>T	ENST00000278937.2	-	1	168	c.40C>A	c.(40-42)Ctt>Att	p.L14I	MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Missense_Mutation_p.L14I	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	14					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	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;3.04e-05)		TGTATGCCAAGGAGAAGAAGC	0.542																																																	0													80	74	77					11																	118134829		2200	4296	6496	SO:0001583	missense	10205			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.40C>A	11.37:g.118134829G>T	ENSP00000278937:p.Leu14Ile		A8K2R1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.L14I	ENST00000278937.2	37	c.40	CCDS8393.1	11	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997513	0.54147	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97598	-4.45;-4.45	5.22	2.94	0.34122	.	1.814600	0.02376	N	0.078318	D	0.92407	0.7590	N	0.19112	0.55	0.09310	N	0.999999	P	0.35077	0.483	B	0.27887	0.084	D	0.87494	0.2429	10	0.27785	T	0.31	.	7.121	0.25444	0.1062:0.1799:0.7138:0.0	.	14	O60487	MPZL2_HUMAN	I	14	ENSP00000278937:L14I;ENSP00000408362:L14I	ENSP00000278937:L14I	L	-	1	0	MPZL2	117640039	1.000000	0.71417	0.148000	0.22405	0.978000	0.69477	2.601000	0.46249	1.165000	0.42670	0.579000	0.79373	CTT	MPZL2	-	NULL		0.542	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MPZL2	HGNC	protein_coding	OTTHUMT00000392113.1	G	NM_005797		118134829	-1	no_errors	ENST00000438295	ensembl	human	known	70_37	missense	SNP	0.073	T	T	118134829	G	T	118134829	3	4	21	1	0	0	0	0	1	0	0	0	9773	1000	35	4	627	4	MPZL2	11	118134829	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	4515779	118134829	16871687	169	3092										
KDM5A	5927	genome.wustl.edu	37	chr12	431665	431665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tacagcatccctgagttttcGaaagagatcattctctgggt	9	9	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:431665G>A	ENST00000399788.2	-	17	2706	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.R782*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	782					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTGAGTTTTCGAAAGAGATCA	0.393			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													112	111	111					12																	431665		1832	4087	5919	SO:0001587	stop_gained	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2344C>T	12.37:g.431665G>A	ENSP00000382688:p.Arg782*		A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R782*	ENST00000399788.2	37	c.2344	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	43	9.967360	0.99307	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	.	.	.	5.82	1.32	0.21799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6414	16.8739	0.86046	0.0:0.0:0.5479:0.4521	.	.	.	.	X	401;741;782;782;401	.	ENSP00000261253:R401X	R	-	1	2	KDM5A	301926	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	3.313000	0.51935	0.322000	0.23283	0.655000	0.94253	CGA	KDM5A	-	pfam_Lys_sp_deMease_like_dom		0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		431665	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	431665	G	A	431665	4	1	21	1	0	0	0	0	0	1	0	0	8153	1066	37	1	2776	1	KDM5A	12	431665	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		431665	133420230	170	3093										
WNK1	65125	genome.wustl.edu	37	chr12	1017163	1017163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccgagatgccatgaatctctCaggcaggagaggaagcaaag	13	9	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:1017163C>T	ENST00000315939.6	+	27	7437	c.6794C>T	c.(6793-6795)tCa>tTa	p.S2265L	WNK1_ENST00000340908.4_Missense_Mutation_p.S1858L|WNK1_ENST00000530271.2_Missense_Mutation_p.S2763L|WNK1_ENST00000535572.1_Missense_Mutation_p.S2017L|WNK1_ENST00000537687.1_Missense_Mutation_p.S2525L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2265					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATGAATCTCTCAGGCAGGAGA	0.498																																					Colon(19;451 567 6672 12618 28860)												0													96	82	87					12																	1017163		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6794C>T	12.37:g.1017163C>T	ENSP00000313059:p.Ser2265Leu		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S2763L	ENST00000315939.6	37	c.8288	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651234	0.88056	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908	T;T;T;T;T	0.79247	-1.23;-1.2;-1.16;-1.25;0.44	5.55	5.55	0.83447	.	0.000000	0.52532	D	0.000076	D	0.85656	0.5747	L	0.53249	1.67	0.54753	D	0.999984	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.65323	0.934;0.884;0.861	D	0.86061	0.1532	10	0.87932	D	0	-15.6406	19.6982	0.96039	0.0:1.0:0.0:0.0	.	2018;2017;2265	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	2017;2265;2525;1438;2763;207;1858	ENSP00000441972:S2017L;ENSP00000313059:S2265L;ENSP00000444465:S2525L;ENSP00000433548:S2763L;ENSP00000341292:S1858L	ENSP00000252477:S1438L	S	+	2	0	WNK1	887424	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.236000	0.78154	2.894000	0.99253	0.655000	0.94253	TCA	WNK1	-	NULL		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		1017163	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1017163	C	T	1017163	3	4	21	1	0	0	0	0	1	0	0	0	17408	838	29	1	8402	1	WNK1	12	1017163	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	585498	1017163	132834732	171	3094										
AKAP3	10566	genome.wustl.edu	37	chr12	4737262	4737262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	catcaggcctttcctgccctCgaaacctctttctctcccga	5	18	3	0	rs545087055		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:4737262C>T	ENST00000545990.2	-	5	1330	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.R269L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCTGCCCTCGAAACCTCTT	0.443													C|||	1	0.000199681	0	0	5008	,	,		24020	0.001		0	False		,,,				2504	0																2	Substitution - Missense(2)	lung(2)											85	79	81					12																	4737262		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.806G>A	12.37:g.4737262C>T	ENSP00000440994:p.Arg269Gln		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.R269Q	ENST00000545990.2	37	c.806	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	4.842	0.156495	0.09236	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11063	2.81;2.81	4.98	0.782	0.18567	A-kinase anchor 110kDa, C-terminal (1);	0.521329	0.17868	N	0.159295	T	0.10078	0.0247	M	0.63428	1.95	0.09310	N	1	B	0.24675	0.109	B	0.16289	0.015	T	0.20974	-1.0259	10	0.45353	T	0.12	-4.3144	5.2547	0.15540	0.0:0.5817:0.1461:0.2722	.	269	O75969	AKAP3_HUMAN	Q	269	ENSP00000228850:R269Q;ENSP00000440994:R269Q	ENSP00000228850:R269Q	R	-	2	0	AKAP3	4607523	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.173000	0.16724	0.020000	0.15106	-0.345000	0.07892	CGA	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.443	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4737262	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.001	T	T	4737262	C	T	4737262	3	4	21	1	0	0	0	0	1	0	0	0	452	884	31	1	1763	1	AKAP3	12	4737262	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3720099	4737262	129114633	172	3095										
ANO2	57101	genome.wustl.edu	37	chr12	5687152	5687152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagagaacttgccaattccaGagagaatgtcaaaccagatt	8	9	1	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:5687152G>C	ENST00000356134.5	-	24	2482	c.2411C>G	c.(2410-2412)tCt>tGt	p.S804C	ANO2_ENST00000327087.8_Missense_Mutation_p.S803C|ANO2_ENST00000546188.1_Missense_Mutation_p.S804C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	808					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCAATTCCAGAGAGAATGTC	0.502																																																	0													132	130	131					12																	5687152		2008	4182	6190	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2411C>G	12.37:g.5687152G>C	ENSP00000348453:p.Ser804Cys		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.S804C	ENST00000356134.5	37	c.2411		12	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710199	0.48517	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.64260	-0.09;-0.09;-0.09	5.52	5.52	0.82312	.	0.108340	0.64402	D	0.000016	T	0.58694	0.2140	L	0.46157	1.445	0.54753	D	0.999987	B	0.23591	0.088	B	0.31245	0.126	T	0.58177	-0.7682	10	0.54805	T	0.06	.	13.1298	0.59375	0.0:0.2634:0.7365:0.0	.	803	Q9NQ90-3	.	C	803;804;804;808	ENSP00000314048:S803C;ENSP00000348453:S804C;ENSP00000440981:S804C	ENSP00000314048:S803C	S	-	2	0	ANO2	5557413	1.000000	0.71417	0.968000	0.41197	0.984000	0.73092	5.561000	0.67339	2.598000	0.87819	0.655000	0.94253	TCT	ANO2	-	pfam_Anoctamin		0.502	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	G	NM_020373		5687152	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	missense	SNP	0.997	C	C	5687152	G	C	5687152	3	2	21	1	0	0	0	0	1	0	0	0	697	942	33	1	604	1	ANO2	12	5687152	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	949890	5687152	128164743	173	3096										
ATN1	1822	genome.wustl.edu	37	chr12	7043362	7043362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcaatgaggagtggacggaaGaaagaggcccctgggccccg	16	10	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:7043362G>C	ENST00000356654.4	+	3	288	c.51G>C	c.(49-51)aaG>aaC	p.K17N	ATN1_ENST00000396684.2_Missense_Mutation_p.K17N	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	17					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGGACGGAAGAAAGAGGCCC	0.537																																																	0													43	46	45					12																	7043362		2203	4300	6503	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.51G>C	12.37:g.7043362G>C	ENSP00000349076:p.Lys17Asn		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.K17N	ENST00000356654.4	37	c.51	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373210	0.82573	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.62788	0.0;0.0;0.0	4.71	4.71	0.59529	.	0.000000	0.32836	U	0.005586	T	0.65903	0.2736	N	0.20986	0.625	0.49299	D	0.999773	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68606	-0.5364	10	0.72032	D	0.01	.	11.7426	0.51801	0.0809:0.0:0.9191:0.0	.	17;17	Q86V38;P54259	.;ATN1_HUMAN	N	17	ENSP00000349076:K17N;ENSP00000379915:K17N;ENSP00000441744:K17N	ENSP00000349076:K17N	K	+	3	2	ATN1	6913623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	2.625000	0.88918	0.551000	0.68910	AAG	ATN1	-	pfam_Atrophin-like		0.537	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	G	NM_001940		7043362	1	no_errors	ENST00000356654	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7043362	G	C	7043362	3	2	21	1	0	0	0	0	1	0	0	0	1112	933	33	1	57	1	ATN1	12	7043362	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1356210	7043362	126808533	174	3097										
CLEC4D	338339	genome.wustl.edu	37	chr12	8673805	8673805	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagataaatgggcctggaatGatgttccttgtaactttgaa	10	5	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:8673805G>A	ENST00000299665.2	+	6	779	c.586G>A	c.(586-588)Gat>Aat	p.D196N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	196	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCCTGGAATGATGTTCCTTG	0.378																																																	0													131	125	127					12																	8673805		2203	4300	6503	SO:0001583	missense	338339			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.586G>A	12.37:g.8673805G>A	ENSP00000299665:p.Asp196Asn		Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.D196N	ENST00000299665.2	37	c.586	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	G	5.590	0.293671	0.10567	.	.	ENSG00000166527	ENST00000299665	T	0.22743	1.94	4.22	-0.806	0.10875	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.25827	0.0629	M	0.89414	3.03	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.39187	-0.9626	9	0.87932	D	0	.	3.5417	0.07814	0.3882:0.0:0.4402:0.1716	.	196	Q8WXI8	CLC4D_HUMAN	N	196	ENSP00000299665:D196N	ENSP00000299665:D196N	D	+	1	0	CLEC4D	8565072	0.020000	0.18652	0.001000	0.08648	0.098000	0.18820	-0.114000	0.10757	-0.155000	0.11098	-1.000000	0.02509	GAT	CLEC4D	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.378	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1	G	NM_080387		8673805	1	no_errors	ENST00000299665	ensembl	human	known	70_37	missense	SNP	0.001	A	A	8673805	G	A	8673805	3	1	21	1	0	0	0	0	1	0	0	0	3519	1290	45	1	608	1	CLEC4D	12	8673805	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1630443	8673805	125178090	175	3098										
STYK1	55359	genome.wustl.edu	37	chr12	10777320	10777320	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccacttgagaggtatggtttGagtagaggagatggcccctc	14	8	0	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:10777320G>C	ENST00000075503.3	-	8	1376	c.856C>G	c.(856-858)Caa>Gaa	p.Q286E		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGTATGGTTTGAGTAGAGGAG	0.502										HNSCC(73;0.22)																																							0													188	183	185					12																	10777320		2203	4300	6503	SO:0001583	missense	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.856C>G	12.37:g.10777320G>C	ENSP00000075503:p.Gln286Glu		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q286E	ENST00000075503.3	37	c.856	CCDS8629.1	12	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.215272	0.01542	.	.	ENSG00000060140	ENST00000075503	T	0.68903	-0.36	4.88	1.96	0.26148	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.719498	0.12700	N	0.446420	T	0.40347	0.1113	N	0.04260	-0.245	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.27640	-1.0068	10	0.51188	T	0.08	0.0173	5.1949	0.15232	0.0823:0.1439:0.6248:0.1489	.	286	Q6J9G0	STYK1_HUMAN	E	286	ENSP00000075503:Q286E	ENSP00000075503:Q286E	Q	-	1	0	STYK1	10668587	0.000000	0.05858	0.002000	0.10522	0.817000	0.46193	-0.001000	0.12947	0.188000	0.20168	0.655000	0.94253	CAA	STYK1	-	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,pfscan_Prot_kinase_cat_dom		0.502	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1	G	NM_018423		10777320	-1	no_errors	ENST00000075503	ensembl	human	known	70_37	missense	SNP	0.004	C	C	10777320	G	C	10777320	3	2	21	1	0	0	0	0	1	0	0	0	15389	1299	45	1	428	1	STYK1	12	10777320	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2103515	10777320	123074575	176	3099										
CCNT1	904	genome.wustl.edu	37	chr12	49088062	49088062	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	actcttcggagactggcaggGaaggcactgcacttgtggta	14	9	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:49088062G>C	ENST00000261900.3	-	9	1157	c.935C>G	c.(934-936)tCc>tGc	p.S312C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	312					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GACTGGCAGGGAAGGCACTGC	0.488																																																	0													118	106	110					12																	49088062		2203	4300	6503	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.935C>G	12.37:g.49088062G>C	ENSP00000261900:p.Ser312Cys		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S312C	ENST00000261900.3	37	c.935	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148912	0.37923	.	.	ENSG00000129315	ENST00000261900	T	0.50548	0.74	5.49	5.49	0.81192	.	0.241802	0.35838	N	0.002960	T	0.30230	0.0758	N	0.08118	0	0.37901	D	0.931056	B	0.31318	0.319	B	0.22601	0.04	T	0.34650	-0.9820	10	0.66056	D	0.02	-8.5301	18.1209	0.89571	0.0:0.0:1.0:0.0	.	312	O60563	CCNT1_HUMAN	C	312	ENSP00000261900:S312C	ENSP00000261900:S312C	S	-	2	0	CCNT1	47374329	1.000000	0.71417	0.993000	0.49108	0.253000	0.25986	3.538000	0.53597	2.587000	0.87381	0.491000	0.48974	TCC	CCNT1	-	NULL		0.488	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	G	NM_001240		49088062	-1	no_errors	ENST00000261900	ensembl	human	known	70_37	missense	SNP	0.967	C	C	49088062	G	C	49088062	3	2	21	1	0	0	0	0	1	0	0	0	2939	1174	41	1	1249	1	CCNT1	12	49088062	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	38310742	49088062	84763833	177	3100										
LMBR1L	55716	genome.wustl.edu	37	chr12	49496668	49496668	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagagcaaggaataccacatAcccggggcttgactagcagc	11	11	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:49496668A>G	ENST00000267102.8	-	8	1039		c.e8+1		LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000395141.4_Splice_Site|LMBR1L_ENST00000547382.1_Splice_Site	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like						endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AATACCACATACCCGGGGCTT	0.532																																																	0													95	81	86					12																	49496668		2203	4300	6503	SO:0001630	splice_region_variant	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.696+1T>C	12.37:g.49496668A>G			Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Splice_Site	SNP	-	e8+2	ENST00000267102.8	37	c.696+2	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681275	0.88542	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141;ENST00000547675	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3282	0.74182	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBR1L	47782935	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.147000	0.94646	2.320000	0.78422	0.528000	0.53228	.	LMBR1L	-	-		0.532	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	A	NM_018113	Intron	49496668	-1	no_errors	ENST00000267102	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	49496668	A	G	49496668	5	3	21	1	0	0	0	0	0	0	1	0	8862	405	14	5	811	5	LMBR1L	12	49496668	Splice_Site	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	408606	49496668	84355227	178	3101										
HOXC5	3222	genome.wustl.edu	37	chr12	54428255	54428255	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggaagaaagattccaaaatGaaaagcaaagaggctcttta	9	5	1	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:54428255G>A	ENST00000312492.2	+	2	918	c.648G>A	c.(646-648)atG>atA	p.M216I	MIR615_ENST00000384839.1_RNA|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.M120I|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	216					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						ATTCCAAAATGAAAAGCAAAG	0.537																																																	0													38	42	40					12																	54428255		2203	4300	6503	SO:0001583	missense	3222				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"Homeoboxes / ANTP class : HOXL subclass"	5127	protein-coding gene	gene with protein product		142973	"homeo box C5"	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.648G>A	12.37:g.54428255G>A	ENSP00000309336:p.Met216Ile			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.M216I	ENST00000312492.2	37	c.648	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408699	0.25378	.	.	ENSG00000172789	ENST00000312492	D	0.89746	-2.56	4.3	2.45	0.29901	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.51477	D	0.000087	T	0.68568	0.3015	N	0.01493	-0.835	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63642	-0.6591	10	0.56958	D	0.05	.	5.7646	0.18219	0.191:0.1658:0.6432:0.0	.	216	Q00444	HXC5_HUMAN	I	216	ENSP00000309336:M216I	ENSP00000309336:M216I	M	+	3	0	HOXC5	52714522	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.292000	0.43549	1.150000	0.42419	0.561000	0.74099	ATG	HOXC5	-	superfamily_Homeodomain-like,smart_Homeodomain		0.537	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	HGNC	protein_coding	OTTHUMT00000358947.1	G			54428255	1	no_errors	ENST00000312492	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54428255	G	A	54428255	3	1	21	1	0	0	0	0	1	0	0	0	7334	1290	45	1	654	1	HOXC5	12	54428255	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	4931587	54428255	79423640	179	3102										
NEUROD4	58158	genome.wustl.edu	37	chr12	55421139	55421139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aggctggtaccccccgttatGatgttcctatagacatgtcc	9	12	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:55421139G>A	ENST00000242994.3	+	2	1294	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	306					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCCCCGTTATGATGTTCCTAT	0.448																																																	0													421	419	420					12																	55421139		2203	4300	6503	SO:0001583	missense	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.916G>A	12.37:g.55421139G>A	ENSP00000242994:p.Asp306Asn		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.D306N	ENST00000242994.3	37	c.916	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910023	0.52439	.	.	ENSG00000123307	ENST00000242994	D	0.95272	-3.66	5.78	5.78	0.91487	.	0.095800	0.64402	D	0.000001	D	0.92319	0.7563	L	0.46157	1.445	0.53688	D	0.999978	B	0.17465	0.022	B	0.17979	0.02	D	0.87648	0.2526	10	0.36615	T	0.2	-1.6108	17.8912	0.88872	0.0:0.0:1.0:0.0	.	306	Q9HD90	NDF4_HUMAN	N	306	ENSP00000242994:D306N	ENSP00000242994:D306N	D	+	1	0	NEUROD4	53707406	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.766000	0.98957	2.906000	0.99361	0.655000	0.94253	GAT	NEUROD4	-	pirsf_TF_bHLH_NeuroD		0.448	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	G			55421139	1	no_errors	ENST00000242994	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55421139	G	A	55421139	3	1	21	1	0	0	0	0	1	0	0	0	10374	1290	45	1	918	1	NEUROD4	12	55421139	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	992884	55421139	78430756	180	3103										
KIF5A	3798	genome.wustl.edu	37	chr12	57975210	57975210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tattgcagccaaacccgtccGgcctggccactacccagcat	8	17	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:57975210G>A	ENST00000455537.2	+	25	3042	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R834Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	923	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAACCCGTCCGGCCTGGCCAC	0.542																																																	0													76	76	76					12																	57975210		2203	4300	6503	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2768G>A	12.37:g.57975210G>A	ENSP00000408979:p.Arg923Gln		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R923Q	ENST00000455537.2	37	c.2768	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.352593	0.95830	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.80480	-1.31;-1.38	4.52	4.52	0.55395	.	0.201593	0.32343	N	0.006224	D	0.85340	0.5674	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.55785	0.784;0.784	D	0.87456	0.2404	10	0.87932	D	0	.	16.5482	0.84454	0.0:0.0:1.0:0.0	.	834;923	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	923;834;17	ENSP00000408979:R923Q;ENSP00000286452:R834Q	ENSP00000286452:R834Q	R	+	2	0	KIF5A	56261477	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	9.338000	0.96553	2.528000	0.85240	0.561000	0.74099	CGG	KIF5A	-	NULL		0.542	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	G	NM_004984		57975210	1	no_errors	ENST00000455537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57975210	G	A	57975210	3	1	21	1	0	0	0	0	1	0	0	0	8325	1116	39	2	2866	2	KIF5A	12	57975210	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2554071	57975210	75876685	181	3104										
MON2	23041	genome.wustl.edu	37	chr12	62949938	62949938	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttggctggagtagcaaggatCttcaacactagaagatattt	10	6	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:62949938C>A	ENST00000393632.2	+	25	3766	c.3375C>A	c.(3373-3375)atC>atA	p.I1125I	MON2_ENST00000280379.6_Silent_p.I1126I|MON2_ENST00000552738.1_Silent_p.I1102I|MON2_ENST00000393629.2_Silent_p.I1125I|MON2_ENST00000393630.3_Silent_p.I1126I|MON2_ENST00000546600.1_Silent_p.I1125I	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1125					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGCAAGGATCTTCAACACTA	0.388																																																	0													79	74	76					12																	62949938		2203	4300	6503	SO:0001819	synonymous_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3375C>A	12.37:g.62949938C>A			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.I1126	ENST00000393632.2	37	c.3378	CCDS31849.1	12																																																																																			MON2	-	superfamily_ARM-type_fold		0.388	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	C	NM_015026		62949938	1	no_errors	ENST00000393630	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62949938	C	A	62949938	2	1	21	1	0	0	0	0	0	0	0	1	9723	903	32	3		3	MON2	12	62949938	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4974728	62949938	70901957	182	3105										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80214673	80214673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gttccagagattcaatacggGatgcatttttctctggttca	9	8	3	1	rs370303309		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:80214673G>A	ENST00000450142.2	-	8	1261	c.995C>T	c.(994-996)tCc>tTc	p.S332F	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S332F|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S332F|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S245F|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S332F	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	332					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTCAATACGGGATGCATTTTT	0.353																																																	0													115	105	108					12																	80214673		1855	4083	5938	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.995C>T	12.37:g.80214673G>A	ENSP00000389168:p.Ser332Phe		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S332F	ENST00000450142.2	37	c.995	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204933	0.58234	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.48201	1.15;1.15;1.18;1.16;1.09;1.11;0.82	5.7	4.8	0.61643	.	0.111229	0.64402	D	0.000005	T	0.64778	0.2629	M	0.65975	2.015	0.50632	D	0.99988	D;P;P;P	0.71674	0.998;0.547;0.514;0.612	P;B;B;B	0.62560	0.904;0.241;0.244;0.172	T	0.69117	-0.5230	10	0.66056	D	0.02	.	15.9602	0.79926	0.0:0.0:0.8639:0.1361	.	332;332;332;332	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	F	332;332;332;332;332;332;332;245;332;332;27	ENSP00000261207:S332F;ENSP00000389168:S332F;ENSP00000416769:S332F;ENSP00000449514:S245F;ENSP00000446855:S332F;ENSP00000446816:S332F;ENSP00000450061:S27F	ENSP00000261207:S332F	S	-	2	0	PPP1R12A	78738804	1.000000	0.71417	0.983000	0.44433	0.813000	0.45954	9.163000	0.94750	1.358000	0.45922	-0.293000	0.09583	TCC	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.353	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	G	NM_002480		80214673	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	0.988	A	A	80214673	G	A	80214673	3	1	21	1	0	0	0	0	1	0	0	0	12381	1174	41	1	2169	1	PPP1R12A	12	80214673	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	17264735	80214673	53637222	183	3106										
TMEM132D	121256	genome.wustl.edu	37	chr12	129566467	129566467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggtgtcccccagggccggccGcctcagccacaaactgcgtc	12	18	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr12:129566467G>A	ENST00000422113.2	-	7	2086	c.1760C>T	c.(1759-1761)gCg>gTg	p.A587V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.A125V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	587					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGGCCGGCCGCCTCAGCCAC	0.647																																																	0													38	41	40					12																	129566467		2202	4299	6501	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1760C>T	12.37:g.129566467G>A	ENSP00000408581:p.Ala587Val		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.A587V	ENST00000422113.2	37	c.1760	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551787	0.45487	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15139	2.45;2.45	4.72	3.82	0.43975	.	0.509712	0.19288	N	0.117972	T	0.23727	0.0574	M	0.63843	1.955	0.24650	N	0.993527	P;D	0.54964	0.907;0.969	B;P	0.48304	0.29;0.573	T	0.06643	-1.0815	9	.	.	.	-29.7334	10.0099	0.41979	0.0:0.1502:0.6939:0.1559	.	587;125	Q14C87;Q14C87-2	T132D_HUMAN;.	V	125;587	ENSP00000374092:A125V;ENSP00000408581:A587V	.	A	-	2	0	TMEM132D	128132420	0.002000	0.14202	0.212000	0.23672	0.554000	0.35429	1.209000	0.32357	0.945000	0.37605	0.561000	0.74099	GCG	TMEM132D	-	NULL		0.647	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		129566467	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	0.577	A	A	129566467	G	A	129566467	3	1	21	1	0	0	0	0	1	0	0	0	16077	1087	38	2	1551	2	TMEM132D	12	129566467	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	49351794	129566467	4285428	184	3107										
HSPH1	10808	genome.wustl.edu	37	chr13	31725797	31725797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gacacttgaaaagctgaatgTcccatatcaacaaaaaccac	5	11	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr13:31725797T>C	ENST00000320027.5	-	6	956	c.612A>G	c.(610-612)ggA>ggG	p.G204G	HSPH1_ENST00000380405.4_Silent_p.G204G|HSPH1_ENST00000380406.5_Silent_p.G163G|HSPH1_ENST00000445273.2_Silent_p.G206G|HSPH1_ENST00000429785.2_Intron	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	204					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AAGCTGAATGTCCCATATCAA	0.378																																																	0													84	76	79					13																	31725797		2203	4300	6503	SO:0001819	synonymous_variant	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.612A>G	13.37:g.31725797T>C			B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G206	ENST00000320027.5	37	c.618	CCDS9340.1	13																																																																																			HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.378	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	T			31725797	-1	no_errors	ENST00000445273	ensembl	human	known	70_37	silent	SNP	0.997	C	C	31725797	T	C	31725797	2	2	21	1	0	0	0	0	0	0	0	1	7451	1654	58	5		5	HSPH1	13	31725797	Silent	SNP	T	TCGA-C5-A1MH-01A-11D-A14W-08		31725797	83444081	185	3108										
SPERT	220082	genome.wustl.edu	37	chr13	46288426	46288426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	accgtgaccgaggtcaccgcGcgcatggaaatgctcatcga	12	13	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr13:46288426G>A	ENST00000310521.1	+	3	1346	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A	SPERT_ENST00000378966.3_Silent_p.A386A	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	422						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGGTCACCGCGCGCATGGAAA	0.617																																																	0													26	23	24					13																	46288426		2203	4300	6503	SO:0001819	synonymous_variant	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.1266G>A	13.37:g.46288426G>A			A8K8I5|Q8NHV2	Silent	SNP	NULL	p.A422	ENST00000310521.1	37	c.1266	CCDS9399.1	13																																																																																			SPERT	-	NULL		0.617	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPERT	HGNC	protein_coding	OTTHUMT00000044786.2	G	NM_152719		46288426	1	no_errors	ENST00000310521	ensembl	human	known	70_37	silent	SNP	0.995	A	A	46288426	G	A	46288426	2	1	21	1	0	0	0	0	0	0	0	1	15069	1074	38	2		2	SPERT	13	46288426	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	14562629	46288426	68881452	186	3109										
TPP2	7174	genome.wustl.edu	37	chr13	103279418	103279418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gacactttccagaagaacctGaacggaatggggtagctcct	11	10	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr13:103279418G>A	ENST00000376065.4	+	7	877	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	TPP2_ENST00000376052.3_Missense_Mutation_p.E281K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	281	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.E281K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAAGAACCTGAACGGAATGG	0.463																																																	1	Substitution - Missense(1)	lung(1)											140	135	136					13																	103279418		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.841G>A	13.37:g.103279418G>A	ENSP00000365233:p.Glu281Lys		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.E281K	ENST00000376065.4	37	c.841	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716172	0.89205	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.46063	0.88;0.88	5.58	5.58	0.84498	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	N	0.25144	0.715	0.80722	D	1	B	0.18968	0.032	B	0.23419	0.046	T	0.09574	-1.0668	10	0.48119	T	0.1	.	19.9474	0.97186	0.0:0.0:1.0:0.0	.	281	P29144	TPP2_HUMAN	K	281	ENSP00000365233:E281K;ENSP00000365220:E281K	ENSP00000365220:E281K	E	+	1	0	TPP2	102077419	1.000000	0.71417	0.964000	0.40570	0.978000	0.69477	7.538000	0.82048	2.774000	0.95407	0.655000	0.94253	GAA	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.463	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	G			103279418	1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103279418	G	A	103279418	3	1	21	1	0	0	0	0	1	0	0	0	16443	1291	45	1	867	1	TPP2	13	103279418	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	56990992	103279418	11890460	187	3110										
GRTP1	79774	genome.wustl.edu	37	chr13	113980315	113980315	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agcacaccgagacgctccatCagggcccccacagccggcag	11	18	1	1	rs367749619		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr13:113980315C>T	ENST00000375431.4	-	6	728	c.654G>A	c.(652-654)ctG>ctA	p.L218L	GRTP1_ENST00000375430.4_Silent_p.L218L|GRTP1_ENST00000326039.3_Silent_p.L140L	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	218	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GACGCTCCATCAGGGCCCCCA	0.667																																																	0								C		0,4406		0,0,2203	56	66	62		654	2.7	0.6	13		62	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GRTP1	NM_024719.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		218/337	113980315	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	79774			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.654G>A	13.37:g.113980315C>T			B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L218	ENST00000375431.4	37	c.654	CCDS9534.2	13																																																																																			GRTP1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.667	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	GRTP1	HGNC	protein_coding	OTTHUMT00000045882.5	C	NM_024719		113980315	-1	no_errors	ENST00000375430	ensembl	human	known	70_37	silent	SNP	0.981	T	T	113980315	C	T	113980315	2	4	21	1	0	0	0	0	0	0	0	1	6830	813	29	1		1	GRTP1	13	113980315	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	10700897	113980315	1189563	188	3111										
OR4K17	390436	genome.wustl.edu	37	chr14	20585871	20585871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aatctctcttttgtagatatGacccttgcttcttttgccac	5	11	3	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:20585871G>A	ENST00000315543.4	+	1	306	c.306G>A	c.(304-306)atG>atA	p.M102I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGTAGATATGACCCTTGCTT	0.388																																																	0													190	198	195					14																	20585871		2203	4300	6503	SO:0001583	missense	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.306G>A	14.37:g.20585871G>A	ENSP00000319197:p.Met102Ile		Q6IF12	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M102I	ENST00000315543.4	37	c.306	CCDS32030.1	14	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.507120	0.00992	.	.	ENSG00000176230	ENST00000315543	T	0.01804	4.63	2.3	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.400889	0.17836	U	0.160367	T	0.00875	0.0029	N	0.02842	-0.48	0.09310	N	0.99999	B	0.17268	0.021	B	0.16289	0.015	T	0.49113	-0.8973	10	0.11485	T	0.65	.	9.9556	0.41663	0.0:0.2117:0.7883:0.0	.	74	Q8NGC6	OR4KH_HUMAN	I	102	ENSP00000319197:M102I	ENSP00000319197:M102I	M	+	3	0	OR4K17	19655711	0.000000	0.05858	0.919000	0.36401	0.107000	0.19398	-1.020000	0.03618	0.459000	0.27016	0.404000	0.27445	ATG	OR4K17	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.388	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K17	HGNC	protein_coding	OTTHUMT00000410346.1	G			20585871	1	no_errors	ENST00000315543	ensembl	human	known	70_37	missense	SNP	0.301	A	A	20585871	G	A	20585871	3	1	21	1	0	0	0	0	1	0	0	0	11095	1290	45	1	308	1	OR4K17	14	20585871	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		20585871	86763669	189	3112										
HECTD1	25831	genome.wustl.edu	37	chr14	31578721	31578721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gacgaccaactcgaaactctCcagggtcatctcgcctaaca	7	15	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:31578721C>T	ENST00000399332.1	-	36	6850	c.6362G>A	c.(6361-6363)gGa>gAa	p.G2121E	HECTD1_ENST00000553700.1_Missense_Mutation_p.G2121E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2121					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGAAACTCTCCAGGGTCATC	0.458																																																	0													106	107	107					14																	31578721		2049	4205	6254	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6362G>A	14.37:g.31578721C>T	ENSP00000382269:p.Gly2121Glu		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.G2121E	ENST00000399332.1	37	c.6362	CCDS41939.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.00|17.00	3.277003|3.277003	0.59758|0.59758	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.08720	.|3.06;3.06	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.12732|0.12732	0.0309|0.0309	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D	.|0.54047	.|0.964	.|P	.|0.44811	.|0.461	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.02654	.|T	.|1	-14.1036|-14.1036	19.8893|19.8893	0.96923|0.96923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2121	.|Q9ULT8	.|HECD1_HUMAN	K|E	487|2121;2123;2121	.|ENSP00000450697:G2121E;ENSP00000382269:G2121E	.|ENSP00000261312:G2123E	E|G	-|-	1|2	0|0	HECTD1|HECTD1	30648472|30648472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.252000|7.252000	0.78309|0.78309	2.704000|2.704000	0.92352|0.92352	0.585000|0.585000	0.79938|0.79938	GAG|GGA	HECTD1	-	NULL		0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31578721	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31578721	C	T	31578721	3	4	21	1	0	0	0	0	1	0	0	0	7059	855	30	1	1502	1	HECTD1	14	31578721	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	10992850	31578721	75770819	190	3113										
AKAP6	9472	genome.wustl.edu	37	chr14	33014856	33014856	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	catcatcttcaggagaagctCtgacaaatgctgctcaaccc	7	13	5	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:33014856C>G	ENST00000280979.4	+	4	1167	c.997C>G	c.(997-999)Ctg>Gtg	p.L333V	AKAP6_ENST00000557354.1_Missense_Mutation_p.L333V|AKAP6_ENST00000557272.1_Missense_Mutation_p.L333V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	333					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGGAGAAGCTCTGACAAATGC	0.493																																					Melanoma(49;821 1200 7288 13647 42351)												0													76	67	70					14																	33014856		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.997C>G	14.37:g.33014856C>G	ENSP00000280979:p.Leu333Val		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.L333V	ENST00000280979.4	37	c.997	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.744845	0.00675	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.58	2.6	0.31112	.	1.625990	0.03230	N	0.178774	T	0.24928	0.0605	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30707	-0.9969	10	0.02654	T	1	7.0015	7.9219	0.29850	0.0:0.449:0.4387:0.1123	.	333;333	A7E242;Q13023	.;AKAP6_HUMAN	V	333;333;333;91	ENSP00000280979:L333V;ENSP00000450531:L333V;ENSP00000451247:L333V;ENSP00000451239:L91V	ENSP00000280979:L333V	L	+	1	2	AKAP6	32084607	0.002000	0.14202	0.001000	0.08648	0.285000	0.27093	1.372000	0.34261	0.778000	0.33520	0.655000	0.94253	CTG	AKAP6	-	NULL		0.493	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33014856	1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	0.000	G	G	33014856	C	G	33014856	3	3	21	1	0	0	0	0	1	0	0	0	455	912	32	1	1007	1	AKAP6	14	33014856	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	1436135	33014856	74334684	191	3114										
CTAGE5	4253	genome.wustl.edu	37	chr14	39771449	39771449	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gaatcggaaaatggtgcttaCttaggtattaagtcatgact	10	5	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:39771449C>G	ENST00000280083.3	+	10	1226	c.912C>G	c.(910-912)taC>taG	p.Y304*	CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.Y304*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.Y224*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.Y229*|RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.Y839*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.Y275*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.Y304*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.Y275*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.Y309*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.Y292*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.Y275*			O15320	CTGE5_HUMAN	CTAGE family, member 5	304					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ATGGTGCTTACTTAGGTATTA	0.373																																																	0													166	161	163					14																	39771449		2203	4300	6503	SO:0001587	stop_gained	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.912C>G	14.37:g.39771449C>G	ENSP00000280083:p.Tyr304*		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Nonsense_Mutation	SNP	NULL	p.Y309*	ENST00000280083.3	37	c.927	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	41	8.767893	0.98945	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	.	.	.	5.78	0.00908	0.14077	.	1.807140	0.03748	N	0.256044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8264	0.18556	0.0:0.4723:0.1368:0.391	.	.	.	.	X	839;292;224;266;275;304;309;304;229;304;275	.	.	Y	+	3	2	CTAGE5;RP11-407N17.3	38841200	0.000000	0.05858	0.036000	0.18154	0.997000	0.91878	-0.594000	0.05733	0.072000	0.16694	0.650000	0.86243	TAC	CTAGE5	-	NULL		0.373	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39771449	1	no_errors	ENST00000396158	ensembl	human	known	70_37	nonsense	SNP	0.046	G	G	39771449	C	G	39771449	4	3	21	1	0	0	0	0	0	1	0	0	3999	576	20	4	981	4	CTAGE5	14	39771449	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	6756593	39771449	67578091	192	3115										
GPR137C	283554	genome.wustl.edu	37	chr14	53098933	53098933	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtagtcattcttctgtactCttccagagcttgttataatt	6	8	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:53098933C>G	ENST00000321662.6	+	4	773	c.773C>G	c.(772-774)tCt>tGt	p.S258C		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	258						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CTTCTGTACTCTTCCAGAGCT	0.368																																																	0													159	159	159					14																	53098933		1889	4107	5996	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.773C>G	14.37:g.53098933C>G	ENSP00000315106:p.Ser258Cys		Q86SM2	Missense_Mutation	SNP	NULL	p.S258C	ENST00000321662.6	37	c.773	CCDS45106.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.22|18.22	3.575558|3.575558	0.65878|0.65878	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000555622|ENST00000321662	.|T	.|0.48522	.|0.81	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.099954	.|0.64402	.|D	.|0.000002	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.52573|0.52573	1.65|1.65	0.49798|0.49798	D|D	0.99982|0.99982	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.67382	.|0.951;0.951	T|T	0.58967|0.58967	-0.7542|-0.7542	5|10	.|0.51188	.|T	.|0.08	-14.5438|-14.5438	13.1872|13.1872	0.59688|0.59688	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.	.|258;87	.|Q8N3F9;B3KW22	.|G137C_HUMAN;.	V|C	190|258	.|ENSP00000315106:S258C	.|ENSP00000315106:S258C	L|S	+|+	1|2	0|0	GPR137C|GPR137C	52168683|52168683	0.975000|0.975000	0.34042|0.34042	1.000000|1.000000	0.80357|0.80357	0.743000|0.743000	0.42351|0.42351	2.385000|2.385000	0.44371|0.44371	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	CTT|TCT	GPR137C	-	NULL		0.368	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137C	HGNC	protein_coding	OTTHUMT00000411685.1	C	XM_290615		53098933	1	no_errors	ENST00000321662	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53098933	C	G	53098933	3	3	21	1	0	0	0	0	1	0	0	0	6666	913	32	1	787	1	GPR137C	14	53098933	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	13327484	53098933	54250607	193	3116										
NAA30	122830	genome.wustl.edu	37	chr14	57876233	57876233	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acttaaactgtggctgcgttGagaaactgacatcaaggaac	10	8	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:57876233G>A	ENST00000556492.1	+	5	1242	c.1088G>A	c.(1087-1089)tGa>tAa	p.*363*	NAA30_ENST00000554703.1_3'UTR|NAA30_ENST00000555166.1_Silent_p.*105*	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	0					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TGGCTGCGTTGAGAAACTGAC	0.383																																																	0													116	104	108					14																	57876233		2203	4300	6503	SO:0001819	synonymous_variant	122830			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.1088G>A	14.37:g.57876233G>A			Q0IIN2	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.*363	ENST00000556492.1	37	c.1088	CCDS32088.1	14																																																																																			NAA30	-	NULL		0.383	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA30	HGNC	protein_coding	OTTHUMT00000412925.1	G	NM_001011713		57876233	1	no_errors	ENST00000556492	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57876233	G	A	57876233	2	1	21	1	0	0	0	0	0	0	0	1	10145	1285	45	1		1	NAA30	14	57876233	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	4777300	57876233	49473307	194	3117										
NUMB	8650	genome.wustl.edu	37	chr14	73749139	73749139	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agcagatgagaaggggtcctCaggtgtgctgaaggcattgg	17	6	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:73749139C>T	ENST00000355058.3	-	11	1302	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	NUMB_ENST00000554546.1_Missense_Mutation_p.E331K|NUMB_ENST00000560335.1_Missense_Mutation_p.E244K|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000454166.4_Missense_Mutation_p.E244K|NUMB_ENST00000555394.1_Missense_Mutation_p.E342K|NUMB_ENST00000356296.4_Missense_Mutation_p.E342K|NUMB_ENST00000359560.3_Missense_Mutation_p.E331K|NUMB_ENST00000535282.1_Missense_Mutation_p.E331K|NUMB_ENST00000555238.1_Missense_Mutation_p.E342K|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000555738.2_Missense_Mutation_p.E233K|NUMB_ENST00000556772.1_Missense_Mutation_p.E198K|NUMB_ENST00000557597.1_Missense_Mutation_p.E331K|NUMB_ENST00000544991.3_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	342					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AAGGGGTCCTCAGGTGTGCTG	0.552																																																	0													187	154	165					14																	73749139		2203	4300	6503	SO:0001583	missense	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1024G>A	14.37:g.73749139C>T	ENSP00000347169:p.Glu342Lys		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.E342K	ENST00000355058.3	37	c.1024	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506680	0.85282	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000454166;ENST00000555738;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T	0.56275	0.48;0.47;0.86;0.86;1.41;0.86;0.86;0.47;0.48;0.49;0.86	5.5	5.5	0.81552	.	0.047580	0.85682	N	0.000000	T	0.55194	0.1905	N	0.08118	0	0.80722	D	1	P;D;D;P;P;P;B	0.63880	0.872;0.993;0.993;0.821;0.721;0.716;0.278	P;D;D;P;P;P;B	0.72625	0.585;0.978;0.978;0.568;0.512;0.722;0.24	T	0.59674	-0.7410	10	0.36615	T	0.2	-15.5571	19.5916	0.95514	0.0:1.0:0.0:0.0	.	88;233;244;331;342;331;342	B1P2N9;B1P2N6;B1P2N5;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;NUMB_HUMAN	K	331;342;331;342;198;342;331;342;244;233;331	ENSP00000452416:E331K;ENSP00000348644:E342K;ENSP00000451117:E331K;ENSP00000451300:E342K;ENSP00000451513:E198K;ENSP00000347169:E342K;ENSP00000352563:E331K;ENSP00000451625:E342K;ENSP00000394025:E244K;ENSP00000452069:E233K;ENSP00000441258:E331K	ENSP00000347169:E342K	E	-	1	0	NUMB	72818892	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.475000	0.81041	2.861000	0.98227	0.655000	0.94253	GAG	NUMB	-	pirsf_Numb/numb-like		0.552	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	C			73749139	-1	no_errors	ENST00000355058	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73749139	C	T	73749139	3	4	21	1	0	0	0	0	1	0	0	0	10775	835	29	1	943	1	NUMB	14	73749139	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	15872906	73749139	33600401	195	3118										
ADCK1	57143	genome.wustl.edu	37	chr14	78399610	78399610	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cttcagaaggacccagatctCtttcagcgaggccttcaact	8	13	4	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:78399610C>G	ENST00000238561.5	+	11	1547	c.1448C>G	c.(1447-1449)tCt>tGt	p.S483C	ADCK1_ENST00000341211.5_Missense_Mutation_p.S415C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	490						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACCCAGATCTCTTTCAGCGAG	0.468																																																	0													93	90	91					14																	78399610		2203	4300	6503	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1448C>G	14.37:g.78399610C>G	ENSP00000238561:p.Ser483Cys		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.S483C	ENST00000238561.5	37	c.1448	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	C	8.886	0.952842	0.18431	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.67865	-0.29;1.11	5.75	5.75	0.90469	.	0.164448	0.56097	D	0.000030	T	0.66237	0.2769	M	0.64997	1.995	0.49299	D	0.999774	B;B;B	0.14805	0.007;0.002;0.011	B;B;B	0.12156	0.005;0.003;0.007	T	0.60485	-0.7254	10	0.35671	T	0.21	-27.5244	18.1223	0.89576	0.0:1.0:0.0:0.0	.	490;415;483	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	C	483;415	ENSP00000238561:S483C;ENSP00000339663:S415C	ENSP00000238561:S483C	S	+	2	0	ADCK1	77469363	0.997000	0.39634	0.956000	0.39512	0.018000	0.09664	3.621000	0.54210	2.720000	0.93068	0.655000	0.94253	TCT	ADCK1	-	NULL		0.468	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	C	NM_020421		78399610	1	no_errors	ENST00000238561	ensembl	human	known	70_37	missense	SNP	0.995	G	G	78399610	C	G	78399610	3	3	21	1	0	0	0	0	1	0	0	0	288	913	32	1	1486	1	ADCK1	14	78399610	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4650471	78399610	28949930	196	3119										
DICER1	23405	genome.wustl.edu	37	chr14	95574809	95574809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggtaacagggctgatcaggtCtgggataactatccctcaaa	11	9	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:95574809C>T	ENST00000526495.1	-	17	2579	c.2288G>A	c.(2287-2289)aGa>aAa	p.R763K	DICER1_ENST00000527414.1_Missense_Mutation_p.R763K|DICER1_ENST00000541352.1_Missense_Mutation_p.R763K|DICER1_ENST00000343455.3_Missense_Mutation_p.R763K|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000393063.1_Missense_Mutation_p.R763K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	763					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGATCAGGTCTGGGATAACT	0.423			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													115	104	107					14																	95574809		2203	4300	6503	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2288G>A	14.37:g.95574809C>T	ENSP00000437256:p.Arg763Lys		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.R763K	ENST00000526495.1	37	c.2288	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	C	4.754	0.140132	0.09083	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.83	5.65	-0.885	0.10593	.	0.383424	0.32640	N	0.005824	T	0.25082	0.0609	N	0.12746	0.255	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.05525	T	0.97	-7.3547	10.2639	0.43443	0.0:0.3196:0.0:0.6804	.	763	Q9UPY3	DICER_HUMAN	K	763	ENSP00000343745:R763K;ENSP00000437256:R763K;ENSP00000376783:R763K;ENSP00000435681:R763K;ENSP00000444719:R763K	ENSP00000343745:R763K	R	-	2	0	DICER1	94644562	0.261000	0.24063	0.170000	0.22879	0.978000	0.69477	0.980000	0.29513	-0.289000	0.09038	-0.937000	0.02696	AGA	DICER1	-	NULL		0.423	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	C			95574809	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	missense	SNP	0.969	T	T	95574809	C	T	95574809	3	4	21	1	0	0	0	0	1	0	0	0	4531	913	32	1	3532	1	DICER1	14	95574809	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	17175199	95574809	11774731	197	3120										
TECPR2	9895	genome.wustl.edu	37	chr14	102900646	102900646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aatttcctggggacagtcccCagtccttgaacacagacttg	9	12	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr14:102900646C>T	ENST00000359520.7	+	9	1718	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	TECPR2_ENST00000558678.1_Nonsense_Mutation_p.Q498*	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	498					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACAGTCCCCAGTCCTTGAA	0.507																																																	0													66	63	64					14																	102900646		2203	4300	6503	SO:0001587	stop_gained	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1492C>T	14.37:g.102900646C>T	ENSP00000352510:p.Gln498*		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Nonsense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.Q498*	ENST00000359520.7	37	c.1492	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.818647	0.98507	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	.	.	.	5.4	4.45	0.53987	.	0.676351	0.14702	N	0.303527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	9.3846	0.38336	0.145:0.7802:0.0:0.0747	.	.	.	.	X	498	.	ENSP00000352510:Q498X	Q	+	1	0	TECPR2	101970399	0.058000	0.20735	0.932000	0.37286	0.757000	0.42996	1.817000	0.39002	2.539000	0.85634	0.650000	0.86243	CAG	TECPR2	-	NULL		0.507	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	C	NM_014844		102900646	1	no_errors	ENST00000359520	ensembl	human	known	70_37	nonsense	SNP	0.398	T	T	102900646	C	T	102900646	4	4	21	1	0	0	0	0	0	1	0	0	15774	595	21	4	1522	4	TECPR2	14	102900646	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	7325837	102900646	4448894	198	3121										
C15orf2	23742	genome.wustl.edu	37	chr15	24922087	24922087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcccccacctgctaagctccCctgcctgtctgttgagggag	10	16	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:24922087C>A	ENST00000329468.2	+	1	1547	c.1073C>A	c.(1072-1074)cCc>cAc	p.P358H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	358	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCTAAGCTCCCCTGCCTGTCT	0.522																																																	0													54	49	51					15																	24922087		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1073C>A	15.37:g.24922087C>A	ENSP00000333735:p.Pro358His			Missense_Mutation	SNP	NULL	p.P358H	ENST00000329468.2	37	c.1073	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	15.79	2.937322	0.52972	.	.	ENSG00000185823	ENST00000329468	T	0.12984	2.63	1.93	1.93	0.25924	.	0.688041	0.12068	N	0.502477	T	0.24661	0.0598	L	0.39898	1.24	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05115	-1.0905	10	0.72032	D	0.01	.	7.3461	0.26664	0.0:1.0:0.0:0.0	.	358	Q9NZP6	CO002_HUMAN	H	358	ENSP00000333735:P358H	ENSP00000333735:P358H	P	+	2	0	C15orf2	22473180	0.001000	0.12720	0.007000	0.13788	0.634000	0.38068	0.249000	0.18216	1.386000	0.46466	0.313000	0.20887	CCC	NPAP1	-	NULL		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24922087	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.007	A	A	24922087	C	A	24922087	3	1	21	1	0	0	0	0	1	0	0	0	1788	623	22	4	1075	4	C15orf2	15	24922087	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		24922087	77609305	199	3122										
APBA2	321	genome.wustl.edu	37	chr15	29346279	29346279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccagaggaacaggagtgccaCaaccacagccccgatgggga	13	13	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:29346279C>G	ENST00000558402.1	+	5	791	c.192C>G	c.(190-192)caC>caG	p.H64Q	APBA2_ENST00000411764.1_Missense_Mutation_p.H64Q|APBA2_ENST00000561069.1_Missense_Mutation_p.H64Q|APBA2_ENST00000558259.1_Missense_Mutation_p.H64Q|APBA2_ENST00000558330.1_Missense_Mutation_p.H64Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	64					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGAGTGCCACAACCACAGCC	0.652																																																	0													78	88	84					15																	29346279		2203	4300	6503	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.192C>G	15.37:g.29346279C>G	ENSP00000453293:p.His64Gln		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.H64Q	ENST00000558402.1	37	c.192	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746361	0.30955	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.44881	0.91	5.25	-3.09	0.05331	.	0.547997	0.19434	N	0.114343	T	0.31544	0.0800	L	0.44542	1.39	0.29892	N	0.825139	B;B;B	0.24823	0.112;0.112;0.112	B;B;B	0.23018	0.043;0.04;0.04	T	0.27331	-1.0077	10	0.72032	D	0.01	.	12.3346	0.55060	0.0:0.3012:0.0:0.6988	.	64;64;64	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	Q	64	ENSP00000409312:H64Q	ENSP00000219865:H64Q	H	+	3	2	APBA2	27133571	0.244000	0.23889	0.087000	0.20705	0.942000	0.58702	-0.681000	0.05191	-0.520000	0.06435	-0.142000	0.14014	CAC	APBA2	-	NULL		0.652	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	C	NM_005503		29346279	1	no_errors	ENST00000558259	ensembl	human	known	70_37	missense	SNP	0.905	G	G	29346279	C	G	29346279	3	3	21	1	0	0	0	0	1	0	0	0	757	477	17	4	194	4	APBA2	15	29346279	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4424192	29346279	73185113	200	3123										
MTMR15	22909	genome.wustl.edu	37	chr15	31197287	31197287	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggtgtgcaaaaatcaagatGagctgagaaatcgtagtgtg	13	4	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:31197287G>A	ENST00000362065.4	+	2	712	c.421G>A	c.(421-423)Gag>Aag	p.E141K	FAN1_ENST00000561594.1_Missense_Mutation_p.E141K|FAN1_ENST00000561607.1_Missense_Mutation_p.E141K|FAN1_ENST00000565466.1_Missense_Mutation_p.E141K	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	141					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAATCAAGATGAGCTGAGAAA	0.363								Direct reversal of damage																																									0													68	64	66					15																	31197287		2202	4300	6502	SO:0001583	missense	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.421G>A	15.37:g.31197287G>A	ENSP00000354497:p.Glu141Lys		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.E141K	ENST00000362065.4	37	c.421	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483441	0.26598	.	.	ENSG00000198690	ENST00000362065	D	0.83992	-1.79	5.46	2.42	0.29668	.	0.483471	0.24328	N	0.039482	T	0.69061	0.3069	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.012;0.008	B;B	0.20184	0.012;0.028	T	0.55341	-0.8156	10	0.35671	T	0.21	-11.0833	8.4789	0.33030	0.2747:0.1052:0.6201:0.0	.	141;141	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	K	141	ENSP00000354497:E141K	ENSP00000354497:E141K	E	+	1	0	FAN1	28984579	0.102000	0.21896	0.000000	0.03702	0.030000	0.12068	2.571000	0.45990	0.054000	0.16065	-1.134000	0.01955	GAG	FAN1	-	NULL		0.363	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31197287	1	no_errors	ENST00000362065	ensembl	human	known	70_37	missense	SNP	0.000	A	A	31197287	G	A	31197287	3	1	21	1	0	0	0	0	1	0	0	0	9966	1291	45	1	423	1	MTMR15	15	31197287	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1851008	31197287	71334105	201	3124										
NUSAP1	51203	genome.wustl.edu	37	chr15	41625245	41625245	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgggtctccgggccaacctGagggtacggcgctggcggtg	18	12	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:41625245G>A	ENST00000559596.1	+	1	177	c.90G>A	c.(88-90)ctG>ctA	p.L30L	NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000450592.2_Silent_p.L30L|NUSAP1_ENST00000450318.1_Silent_p.L30L|NUSAP1_ENST00000414849.2_Silent_p.L30L|OIP5_ENST00000220514.3_5'Flank|NUSAP1_ENST00000560177.1_Silent_p.L30L|NUSAP1_ENST00000260359.6_Silent_p.L30L|NUSAP1_ENST00000560747.1_Silent_p.L30L			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	30					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GGGCCAACCTGAGGGTACGGC	0.652																																																	0													25	26	26					15																	41625245		1883	4120	6003	SO:0001819	synonymous_variant	51203			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.90G>A	15.37:g.41625245G>A			B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	NULL	p.L30	ENST00000559596.1	37	c.90	CCDS45234.1	15																																																																																			NUSAP1	-	NULL		0.652	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	G	NM_016359		41625245	1	no_errors	ENST00000559596	ensembl	human	known	70_37	silent	SNP	0.414	A	A	41625245	G	A	41625245	2	1	21	1	0	0	0	0	0	0	0	1	10802	1277	45	1		1	NUSAP1	15	41625245	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	10427958	41625245	60906147	202	3125										
TRPM7	54822	genome.wustl.edu	37	chr15	50886709	50886709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tatggctaagaatgataagtGgaggaggcagaactggtttc	14	4	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:50886709G>A	ENST00000313478.7	-	24	3673	c.3392C>T	c.(3391-3393)cCa>cTa	p.P1131L	TRPM7_ENST00000560955.1_Missense_Mutation_p.P1131L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1131					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATGATAAGTGGAGGAGGCAG	0.343																																																	0													122	117	118					15																	50886709		1848	4092	5940	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3392C>T	15.37:g.50886709G>A	ENSP00000320239:p.Pro1131Leu		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.P1131L	ENST00000313478.7	37	c.3392	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.199992	0.94997	.	.	ENSG00000092439	ENST00000313478	D	0.83992	-1.79	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	M	0.79258	2.445	0.80722	D	1	D	0.61697	0.99	P	0.48738	0.588	D	0.89478	0.3748	10	0.87932	D	0	-10.8308	19.2325	0.93846	0.0:0.0:1.0:0.0	.	1131	Q96QT4	TRPM7_HUMAN	L	1131	ENSP00000320239:P1131L	ENSP00000320239:P1131L	P	-	2	0	TRPM7	48674001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.535000	0.85469	0.655000	0.94253	CCA	TRPM7	-	NULL		0.343	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	G	NM_017672		50886709	-1	no_errors	ENST00000313478	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50886709	G	A	50886709	3	1	21	1	0	0	0	0	1	0	0	0	16622	1348	47	4	2269	4	TRPM7	15	50886709	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	9261464	50886709	51644683	203	3126										
TRPM7	54822	genome.wustl.edu	37	chr15	50903387	50903387	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctacaaaaggtctaagtcttGaagaaactgctaacttaagg	8	7	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:50903387G>C	ENST00000313478.7	-	17	2464	c.2183C>G	c.(2182-2184)tCa>tGa	p.S728*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.S728*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	728					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTAAGTCTTGAAGAAACTGC	0.393																																																	0													158	141	146					15																	50903387		1847	4103	5950	SO:0001587	stop_gained	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2183C>G	15.37:g.50903387G>C	ENSP00000320239:p.Ser728*		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Nonsense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.S728*	ENST00000313478.7	37	c.2183	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.315415	0.99133	.	.	ENSG00000092439	ENST00000313478	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6967	19.8961	0.96958	0.0:0.0:1.0:0.0	.	.	.	.	X	728	.	ENSP00000320239:S728X	S	-	2	0	TRPM7	48690679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	TCA	TRPM7	-	NULL		0.393	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	G	NM_017672		50903387	-1	no_errors	ENST00000313478	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	50903387	G	C	50903387	4	2	21	1	0	0	0	0	0	1	0	0	16622	1294	45	1	3506	1	TRPM7	15	50903387	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	16678	50903387	51628005	204	3127										
ZNF609	23060	genome.wustl.edu	37	chr15	64791779	64791779	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gaaactggaaatgtcaggctCaaaggaggtggggataccgg	16	6	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:64791779C>G	ENST00000326648.3	+	1	289	c.161C>G	c.(160-162)tCa>tGa	p.S54*	ZNF609_ENST00000416172.1_Nonsense_Mutation_p.S54*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	54						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTCAGGCTCAAAGGAGGTG	0.527																																																	0													136	129	131					15																	64791779		2203	4300	6503	SO:0001587	stop_gained	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.161C>G	15.37:g.64791779C>G	ENSP00000316527:p.Ser54*		Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.S54*	ENST00000326648.3	37	c.161	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	.	37	6.147652	0.97324	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	.	.	.	5.5	5.5	0.81552	.	0.296046	0.29246	N	0.012707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.9548	19.7614	0.96319	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000316527:S54X	S	+	2	0	ZNF609	62578832	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.765000	0.85310	2.747000	0.94245	0.651000	0.88453	TCA	ZNF609	-	NULL		0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	C	XM_042833		64791779	1	no_errors	ENST00000326648	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	64791779	C	G	64791779	4	3	21	1	0	0	0	0	0	1	0	0	18065	838	29	1	163	1	ZNF609	15	64791779	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	13888392	64791779	37739613	205	3128										
FANCI	55215	genome.wustl.edu	37	chr15	89825022	89825022	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctcaaagtcagcatgtcaatGagagactgcttgatacttgt	9	8	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr15:89825022G>C	ENST00000310775.7	+	16	1625	c.1539G>C	c.(1537-1539)atG>atC	p.M513I	FANCI_ENST00000300027.8_Missense_Mutation_p.M513I	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	513					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCATGTCAATGAGAGACTGCT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													227	200	209					15																	89825022		2200	4299	6499	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1539G>C	15.37:g.89825022G>C	ENSP00000310842:p.Met513Ile		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.M513I	ENST00000310775.7	37	c.1539	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842454	0.32513	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.74421	-0.84;-0.84;-0.84	5.81	4.85	0.62838	.	0.224757	0.50627	N	0.000116	T	0.63827	0.2544	L	0.38838	1.175	0.80722	D	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.08055	0.002;0.002;0.003	T	0.57631	-0.7778	10	0.23891	T	0.37	-5.6285	12.7493	0.57300	0.0798:0.0:0.9202:0.0	.	513;513;513	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	I	513	ENSP00000300027:M513I;ENSP00000310842:M513I;ENSP00000413249:M513I	ENSP00000300027:M513I	M	+	3	0	FANCI	87626026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.443000	0.35057	1.348000	0.45733	0.655000	0.94253	ATG	FANCI	-	NULL		0.388	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	G	NM_018193		89825022	1	no_errors	ENST00000310775	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89825022	G	C	89825022	3	2	21	1	0	0	0	0	1	0	0	0	5687	1290	45	1	1597	1	FANCI	15	89825022	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	25033243	89825022	12706370	206	3129										
RHOT2	89941	genome.wustl.edu	37	chr16	722267	722267	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctcacagtcactcgtgagaaGaggctggaccaggagaaggg	15	9	2	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:722267G>C	ENST00000315082.4	+	15	1323	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	403					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CTCGTGAGAAGAGGCTGGACC	0.637																																																	0													65	64	64					16																	722267		2200	4298	6498	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1209G>C	16.37:g.722267G>C	ENSP00000321971:p.Lys403Asn		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2	p.K403N	ENST00000315082.4	37	c.1209	CCDS10417.1	16	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442256	0.43326	.	.	ENSG00000140983	ENST00000315082	T	0.16743	2.32	5.1	4.12	0.48240	EF hand associated, type-1 (1);	0.119625	0.64402	D	0.000006	T	0.40719	0.1128	M	0.79258	2.445	0.58432	D	0.999998	D	0.67145	0.996	D	0.72625	0.978	T	0.34428	-0.9829	10	0.87932	D	0	-12.0277	11.4686	0.50254	0.0932:0.0:0.9068:0.0	.	403	Q8IXI1	MIRO2_HUMAN	N	403	ENSP00000321971:K403N	ENSP00000321971:K403N	K	+	3	2	RHOT2	662268	1.000000	0.71417	0.749000	0.31150	0.630000	0.37929	2.182000	0.42556	1.116000	0.41820	0.462000	0.41574	AAG	RHOT2	-	pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_1		0.637	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOT2	HGNC	protein_coding	OTTHUMT00000241617.1	G	NM_138769		722267	1	no_errors	ENST00000315082	ensembl	human	known	70_37	missense	SNP	0.998	C	C	722267	G	C	722267	3	2	21	1	0	0	0	0	1	0	0	0	13374	933	33	1	1267	1	RHOT2	16	722267	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		722267	89632486	207	3130										
SRRM2	23524	genome.wustl.edu	37	chr16	2812010	2812010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgccaccgctaagagagggcGatctcggtctcgaaccccta	11	14	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:2812010G>A	ENST00000301740.8	+	11	2030	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	494	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGAGAGGGCGATCTCGGTCT	0.577																																																	0													80	65	70					16																	2812010		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1481G>A	16.37:g.2812010G>A	ENSP00000301740:p.Arg494Gln		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R494Q	ENST00000301740.8	37	c.1481	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	9.718	1.158827	0.21454	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.34275	1.37	5.87	4.91	0.64330	.	0.000000	0.50627	D	0.000104	T	0.33876	0.0878	N	0.24115	0.695	0.25857	N	0.983876	D	0.62365	0.991	P	0.49597	0.616	T	0.14839	-1.0458	10	0.35671	T	0.21	-7.9691	15.026	0.71669	0.0:0.1426:0.8574:0.0	.	494	Q9UQ35	SRRM2_HUMAN	Q	494;494;459	ENSP00000301740:R494Q	ENSP00000301740:R494Q	R	+	2	0	SRRM2	2752011	0.977000	0.34250	0.764000	0.31436	0.729000	0.41735	5.312000	0.65792	1.478000	0.48253	0.655000	0.94253	CGA	SRRM2	-	NULL		0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	G			2812010	1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.898	A	A	2812010	G	A	2812010	3	1	21	1	0	0	0	0	1	0	0	0	15199	1058	37	1	1519	1	SRRM2	16	2812010	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2089743	2812010	87542743	208	3131										
TIGD7	91151	genome.wustl.edu	37	chr16	3349121	3349121	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttcagtgtgaagtggaatctCtgaaactcaggtgtggcatc	12	7	3	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:3349121C>G	ENST00000396862.1	-	2	3322	c.1494G>C	c.(1492-1494)caG>caC	p.Q498H	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.Q498H	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	498						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AGTGGAATCTCTGAAACTCAG	0.398																																																	0													122	117	119					16																	3349121		2197	4300	6497	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1494G>C	16.37:g.3349121C>G	ENSP00000380071:p.Gln498His		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.Q498H	ENST00000396862.1	37	c.1494	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531644	0.13127	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.28454	1.61;1.61	4.98	1.53	0.23141	.	0.224034	0.21998	U	0.066046	T	0.33469	0.0864	N	0.24115	0.695	0.23435	N	0.997682	D	0.65815	0.995	D	0.74674	0.984	T	0.06826	-1.0805	10	0.49607	T	0.09	.	5.9506	0.19245	0.0:0.341:0.0:0.659	.	498	Q6NT04	TIGD7_HUMAN	H	498	ENSP00000380071:Q498H;ENSP00000268674:Q498H	ENSP00000268674:Q498H	Q	-	3	2	TIGD7	3289122	0.989000	0.36119	0.998000	0.56505	0.967000	0.64934	-0.214000	0.09292	0.264000	0.21851	-0.302000	0.09304	CAG	TIGD7	-	NULL		0.398	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349121	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	0.998	G	G	3349121	C	G	3349121	3	3	21	1	0	0	0	0	1	0	0	0	15931	912	32	1	159	1	TIGD7	16	3349121	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	537111	3349121	87005632	209	3132			1	16		3	3	429	C		8.615177e-06
TIGD7	91151	genome.wustl.edu	37	chr16	3349384	3349384	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atgttctaagccttgaaaatCatattcaggttcctttttgt	6	7	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:3349384C>T	ENST00000396862.1	-	2	3059	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.D411N	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	411						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTTGAAAATCATATTCAGGT	0.348																																																	0													110	121	117					16																	3349384		2197	4298	6495	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1231G>A	16.37:g.3349384C>T	ENSP00000380071:p.Asp411Asn		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.D411N	ENST00000396862.1	37	c.1231	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	4.263	0.047905	0.08243	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.35236	1.32;1.32	5.32	4.16	0.48862	.	0.594463	0.13634	U	0.373466	T	0.20941	0.0504	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06041	-1.0849	10	0.36615	T	0.2	.	9.7681	0.40574	0.0:0.8899:0.0:0.1101	.	411	Q6NT04	TIGD7_HUMAN	N	411	ENSP00000380071:D411N;ENSP00000268674:D411N	ENSP00000268674:D411N	D	-	1	0	TIGD7	3289385	0.266000	0.24112	0.241000	0.24154	0.882000	0.50991	0.537000	0.23144	2.479000	0.83701	0.655000	0.94253	GAT	TIGD7	-	NULL		0.348	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349384	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	0.144	T	T	3349384	C	T	3349384	3	4	21	1	0	0	0	0	1	0	0	0	15931	826	29	1	422	1	TIGD7	16	3349384	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	263	3349384	87005369	210	3133			1	16		3	3	429	C		8.615177e-06
TIGD7	91151	genome.wustl.edu	37	chr16	3349549	3349549	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctcttgctcatcatcactttCttcaaatattacaagactct	2	12	7	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:3349549C>T	ENST00000396862.1	-	2	2894	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.E356K	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	356	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCATCACTTTCTTCAAATATT	0.353																																																	0													59	62	61					16																	3349549		2197	4299	6496	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1066G>A	16.37:g.3349549C>T	ENSP00000380071:p.Glu356Lys		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E356K	ENST00000396862.1	37	c.1066	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	14.92	2.677935	0.47886	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.41400	1.0;1.0	4.85	4.85	0.62838	.	0.000000	0.40818	U	0.001004	T	0.51244	0.1663	L	0.47716	1.5	0.29872	N	0.826726	D	0.69078	0.997	D	0.79108	0.992	T	0.42766	-0.9432	10	0.06757	T	0.87	.	13.471	0.61281	0.0:1.0:0.0:0.0	.	356	Q6NT04	TIGD7_HUMAN	K	356	ENSP00000380071:E356K;ENSP00000268674:E356K	ENSP00000268674:E356K	E	-	1	0	TIGD7	3289550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.364000	0.34171	2.249000	0.74217	0.655000	0.94253	GAA	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like		0.353	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349549	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3349549	C	T	3349549	3	4	21	1	0	0	0	0	1	0	0	0	15931	922	32	1	587	1	TIGD7	16	3349549	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	165	3349549	87005204	211	3134			1	16		3	3	429	C		8.615177e-06
XYLT1	64131	genome.wustl.edu	37	chr16	17202795	17202795	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcggggttgatgggcaggctGaggacggggtttaggctctg	21	6	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:17202795G>A	ENST00000261381.6	-	12	2721	c.2637C>T	c.(2635-2637)ctC>ctT	p.L879L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	879					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGGCAGGCTGAGGACGGGGT	0.627																																																	0													98	98	98					16																	17202795		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2637C>T	16.37:g.17202795G>A			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.L879	ENST00000261381.6	37	c.2637	CCDS10569.1	16																																																																																			XYLT1	-	NULL		0.627	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	G	NM_022166		17202795	-1	no_errors	ENST00000261381	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17202795	G	A	17202795	2	1	21	1	0	0	0	0	0	0	0	1	17494	1277	45	1		1	XYLT1	16	17202795	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	13853246	17202795	73151958	212	3135										
POLR3E	55718	genome.wustl.edu	37	chr16	22337138	22337138	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagtagccaaaaccaaggccCagcagaaccacgcgttgctg	10	13	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:22337138C>T	ENST00000299853.5	+	18	1572	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	POLR3E_ENST00000564209.1_Nonsense_Mutation_p.Q469*|POLR3E_ENST00000418581.2_Nonsense_Mutation_p.Q433*|POLR3E_ENST00000359210.4_Nonsense_Mutation_p.Q469*	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	469					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACCAAGGCCCAGCAGAACCA	0.692																																																	0													27	26	27					16																	22337138		2196	4298	6494	SO:0001587	stop_gained	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1405C>T	16.37:g.22337138C>T	ENSP00000299853:p.Gln469*		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Nonsense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.Q469*	ENST00000299853.5	37	c.1405	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.866052	0.97043	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	.	.	.	5.27	5.27	0.74061	.	0.348446	0.30437	N	0.009634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.113	11.9346	0.52866	0.2922:0.7078:0.0:0.0	.	.	.	.	X	469;469;433	.	ENSP00000299853:Q469X	Q	+	1	0	POLR3E	22244639	0.884000	0.30299	1.000000	0.80357	0.946000	0.59487	2.762000	0.47597	2.484000	0.83849	0.462000	0.41574	CAG	POLR3E	-	NULL		0.692	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	C	NM_018119		22337138	1	no_errors	ENST00000299853	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	22337138	C	T	22337138	4	4	21	1	0	0	0	0	0	1	0	0	12256	595	21	4	1471	4	POLR3E	16	22337138	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5134343	22337138	68017615	213	3136										
SRCAP	10847	genome.wustl.edu	37	chr16	30724940	30724940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cccatgtcttccagtctcatCgcgagttcaaggagtggttc	10	12	3	0	rs573318039	byFrequency	TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:30724940C>G	ENST00000262518.4	+	16	2786	c.2401C>G	c.(2401-2403)Cgc>Ggc	p.R801G	SRCAP_ENST00000395059.2_Missense_Mutation_p.R801G|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.R801G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	801					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGTCTCATCGCGAGTTCAA	0.527																																																	0													194	171	179					16																	30724940		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2401C>G	16.37:g.30724940C>G	ENSP00000262518:p.Arg801Gly		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R801G	ENST00000262518.4	37	c.2401	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314972	0.60524	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93712	-3.27;-3.27;-3.27	5.54	5.54	0.83059	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.56097	D	0.000025	D	0.94624	0.8267	L	0.31371	0.925	0.80722	D	1	P;D;D	0.89917	0.724;1.0;1.0	P;D;D	0.91635	0.575;0.998;0.999	D	0.94935	0.8086	10	0.66056	D	0.02	-8.1585	18.4191	0.90582	0.0:1.0:0.0:0.0	.	801;801;801	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	G	801	ENSP00000262518:R801G;ENSP00000378499:R801G;ENSP00000343042:R801G	ENSP00000262518:R801G	R	+	1	0	SRCAP	30632441	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.748000	0.62148	2.884000	0.98904	0.655000	0.94253	CGC	SRCAP	-	pfam_SNF2_N,smart_Helicase_ATP-bd		0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30724940	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30724940	C	G	30724940	3	3	21	1	0	0	0	0	1	0	0	0	15165	884	31	1	2455	1	SRCAP	16	30724940	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	8387802	30724940	59629813	214	3137										
RNF40	9810	genome.wustl.edu	37	chr16	30779514	30779514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtgccccagccccagggaaaGaggagggtgggccaggccct	17	13	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:30779514G>C	ENST00000324685.6	+	13	2077	c.1642G>C	c.(1642-1644)Gag>Cag	p.E548Q	RNF40_ENST00000402121.3_Missense_Mutation_p.E240Q|RNF40_ENST00000357890.5_Missense_Mutation_p.E448Q|RNF40_ENST00000563683.1_Missense_Mutation_p.E508Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	548					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCCAGGGAAAGAGGAGGGTGG	0.642																																																	0													43	48	47					16																	30779514		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1642G>C	16.37:g.30779514G>C	ENSP00000325677:p.Glu548Gln		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E548Q	ENST00000324685.6	37	c.1642	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659413	0.47467	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.32753	1.44;1.45;1.46	5.23	5.23	0.72850	.	0.293204	0.35349	N	0.003263	T	0.29684	0.0741	L	0.29908	0.895	0.47778	D	0.999514	D;P;B;B	0.54772	0.968;0.952;0.002;0.004	P;B;B;B	0.46758	0.526;0.446;0.004;0.004	T	0.01259	-1.1403	10	0.23891	T	0.37	-18.9748	17.7457	0.88420	0.0:0.0:1.0:0.0	.	240;448;548;548	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	Q	548;448;240	ENSP00000325677:E548Q;ENSP00000350563:E448Q;ENSP00000384942:E240Q	ENSP00000325677:E548Q	E	+	1	0	RNF40	30687015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	2.728000	0.93425	0.655000	0.94253	GAG	RNF40	-	NULL		0.642	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30779514	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30779514	G	C	30779514	3	2	21	1	0	0	0	0	1	0	0	0	13523	943	33	1	1688	1	RNF40	16	30779514	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	54574	30779514	59575239	215	3138										
NUP93	9688	genome.wustl.edu	37	chr16	56864512	56864512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gctgtggagacctgcttgccGcttcacaggtagttaatcga	12	10	1	1	rs145578512		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:56864512G>A	ENST00000308159.5	+	10	1121	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	NUP93_ENST00000569842.1_Missense_Mutation_p.A334T|NUP93_ENST00000564887.1_Missense_Mutation_p.A211T|NUP93_ENST00000542526.1_Missense_Mutation_p.A211T	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	334					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCTGCTTGCCGCTTCACAGGT	0.502													G|||	1	0.000199681	0	0	5008	,	,		19381	0		0	False		,,,				2504	0.001				Colon(33;610 796 1305 1705 38917)												0								G	THR/ALA,THR/ALA,THR/ALA	0,4396		0,0,2198	138	132	134		631,631,1000	5.1	0.9	16	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	NUP93	NM_001242795.1,NM_001242796.1,NM_014669.4	58,58,58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	211/697,211/697,334/820	56864512	1,12995	2198	4300	6498	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1000G>A	16.37:g.56864512G>A	ENSP00000310668:p.Ala334Thr		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.A334T	ENST00000308159.5	37	c.1000	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.696570	0.96802	0.0	1.16E-4	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.73258	-0.73;-0.73	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.83073	0.5175	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	D	0.84599	0.0671	10	0.62326	D	0.03	-9.8507	18.9354	0.92583	0.0:0.0:1.0:0.0	.	334	Q8N1F7	NUP93_HUMAN	T	334;211	ENSP00000310668:A334T;ENSP00000440235:A211T	ENSP00000310668:A334T	A	+	1	0	NUP93	55422013	1.000000	0.71417	0.930000	0.37139	0.899000	0.52679	9.789000	0.99068	2.525000	0.85131	0.650000	0.86243	GCT	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96		0.502	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	G	NM_014669		56864512	1	no_errors	ENST00000308159	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56864512	G	A	56864512	3	1	21	1	0	0	0	0	1	0	0	0	10796	1087	38	2	1034	2	NUP93	16	56864512	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	26084998	56864512	33490241	216	3139										
PRMT7	54496	genome.wustl.edu	37	chr16	68390620	68390620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acaggcccgggcagagccacGcagcggtgctatggatggag	17	11	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:68390620G>A	ENST00000339507.5	+	18	2658	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	PRMT7_ENST00000348497.4_Missense_Mutation_p.A462T|PRMT7_ENST00000441236.1_Missense_Mutation_p.A560T|PRMT7_ENST00000449359.3_Missense_Mutation_p.A560T			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	610	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCAGAGCCACGCAGCGGTGCT	0.662																																																	0													29	30	30					16																	68390620		2196	4300	6496	SO:0001583	missense	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1828G>A	16.37:g.68390620G>A	ENSP00000343103:p.Ala610Thr		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.A610T	ENST00000339507.5	37	c.1828	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	g	15.16	2.750573	0.49257	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.93	4.98	0.66077	.	0.043408	0.85682	D	0.000000	T	0.34221	0.0890	L	0.60455	1.87	0.22591	N	0.998951	P;P;P	0.50617	0.6;0.846;0.937	B;B;P	0.48304	0.276;0.151;0.573	T	0.24764	-1.0151	10	0.87932	D	0	-23.6093	13.2923	0.60278	0.0:0.1581:0.8419:0.0	.	560;462;610	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	T	560;560;462;610	ENSP00000414716:A560T;ENSP00000409324:A560T;ENSP00000345775:A462T;ENSP00000343103:A610T	ENSP00000343103:A610T	A	+	1	0	PRMT7	66948121	1.000000	0.71417	0.037000	0.18230	0.002000	0.02628	8.190000	0.89714	1.516000	0.48900	0.556000	0.70494	GCA	PRMT7	-	pirsf_Arg_MeTrfase_PRMT7		0.662	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	G	NM_019023		68390620	1	no_errors	ENST00000339507	ensembl	human	known	70_37	missense	SNP	0.833	A	A	68390620	G	A	68390620	3	1	21	1	0	0	0	0	1	0	0	0	12568	1087	38	2	1890	2	PRMT7	16	68390620	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	11526108	68390620	21964133	217	3140										
SNAI3	333929	genome.wustl.edu	37	chr16	88744857	88744857	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgcgccgaccacgtgcctctCaggggcccgggcagcagcca	14	17	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:88744857C>T	ENST00000332281.5	-	3	964	c.878G>A	c.(877-879)tGa>tAa	p.*293*	SNAI3-AS1_ENST00000563261.1_RNA|SNAI3-AS1_ENST00000568633.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	0					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		ACGTGCCTCTCAGGGGCCCGG	0.701																																					Colon(27;366 710 19748 23199 27567)												0													25	24	24					16																	88744857		2196	4297	6493	SO:0001819	synonymous_variant	333929			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.878G>A	16.37:g.88744857C>T			Q86SU5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.*293	ENST00000332281.5	37	c.878	CCDS32505.1	16																																																																																			SNAI3	-	NULL		0.701	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI3	HGNC	protein_coding	OTTHUMT00000422582.1	C			88744857	-1	no_errors	ENST00000332281	ensembl	human	known	70_37	silent	SNP	1.000	T	T	88744857	C	T	88744857	2	4	21	1	0	0	0	0	0	0	0	1	14858	837	29	1		1	SNAI3	16	88744857	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	20354237	88744857	1609896	218	3141										
CPNE7	27132	genome.wustl.edu	37	chr16	89650455	89650455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggtgatcgccgaggacatctCggggaacaacggctacgtgg	16	10	1	1	rs529101968		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:89650455C>T	ENST00000268720.5	+	6	807	c.677C>T	c.(676-678)tCg>tTg	p.S226L	CPNE7_ENST00000319518.8_Missense_Mutation_p.S151L	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	226					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.S226L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGGACATCTCGGGGAACAAC	0.711																																																	1	Substitution - Missense(1)	lung(1)											54	50	51					16																	89650455		2196	4300	6496	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.677C>T	16.37:g.89650455C>T	ENSP00000268720:p.Ser226Leu			Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.S226L	ENST00000268720.5	37	c.677	CCDS10980.1	16	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772890	0.90108	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.15718	2.4;2.42	3.32	3.32	0.38043	C2 calcium-dependent membrane targeting (1);	0.388553	0.26563	N	0.023673	T	0.20088	0.0483	L	0.49350	1.555	0.46564	D	0.999109	P;D	0.56287	0.941;0.975	B;P	0.44673	0.387;0.457	T	0.08106	-1.0738	10	0.72032	D	0.01	-4.4637	13.9128	0.63878	0.0:1.0:0.0:0.0	.	151;226	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	L	151;226	ENSP00000317374:S151L;ENSP00000268720:S226L	ENSP00000268720:S226L	S	+	2	0	CPNE7	88177956	1.000000	0.71417	0.928000	0.36995	0.916000	0.54674	5.041000	0.64196	1.851000	0.53745	0.491000	0.48974	TCG	CPNE7	-	smart_C2_Ca-dep		0.711	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	C			89650455	1	no_errors	ENST00000268720	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89650455	C	T	89650455	3	4	21	1	0	0	0	0	1	0	0	0	3822	893	31	1	699	1	CPNE7	16	89650455	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	905598	89650455	704298	219	3142										
FANCA	2175	genome.wustl.edu	37	chr16	89882319	89882319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cattcaggtcctgatggcttCgcaggaggcgcacagctgat	13	11	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr16:89882319C>G	ENST00000389301.3	-	2	185	c.155G>C	c.(154-156)cGa>cCa	p.R52P	FANCA_ENST00000534992.1_Missense_Mutation_p.R52P|FANCA_ENST00000563673.1_Missense_Mutation_p.R52P|FANCA_ENST00000568369.1_Missense_Mutation_p.R52P|FANCA_ENST00000389302.3_Missense_Mutation_p.R52P|FANCA_ENST00000543736.1_Missense_Mutation_p.R52P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	52					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTGATGGCTTCGCAGGAGGCG	0.522			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													135	127	129					16																	89882319		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.155G>C	16.37:g.89882319C>G	ENSP00000373952:p.Arg52Pro		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.R52P	ENST00000389301.3	37	c.155	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582457	0.46006	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.47	2.09	0.27110	.	0.378804	0.22832	N	0.055097	T	0.49847	0.1581	L	0.57536	1.79	0.26216	N	0.979238	D;D;D;D;D;D	0.76494	0.99;0.999;0.999;0.999;0.999;0.99	P;D;D;D;D;P	0.70487	0.737;0.955;0.969;0.969;0.955;0.737	T	0.28038	-1.0056	10	0.30078	T	0.28	-5.197	4.1274	0.10133	0.0:0.5921:0.1949:0.213	.	52;52;52;52;52;52	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	P	52	ENSP00000373952:R52P;ENSP00000373953:R52P;ENSP00000443675:R52P;ENSP00000443409:R52P	ENSP00000373952:R52P	R	-	2	0	FANCA	88409820	0.707000	0.27866	0.837000	0.33122	0.026000	0.11368	1.146000	0.31589	1.318000	0.45170	0.645000	0.84053	CGA	FANCA	-	NULL		0.522	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	C			89882319	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	missense	SNP	0.488	G	G	89882319	C	G	89882319	3	3	21	1	0	0	0	0	1	0	0	0	5680	884	31	1	4385	1	FANCA	16	89882319	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	231864	89882319	472434	220	3143										
SMYD4	114826	genome.wustl.edu	37	chr17	1703264	1703264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acaattcaggtgtcactgctGctttaagctgagaggagttc	11	8	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:1703264G>A	ENST00000305513.7	-	5	1591	c.1424C>T	c.(1423-1425)gCa>gTa	p.A475V		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	475	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TGTCACTGCTGCTTTAAGCTG	0.512																																																	0													103	79	87					17																	1703264		2203	4300	6503	SO:0001583	missense	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1424C>T	17.37:g.1703264G>A	ENSP00000304360:p.Ala475Val		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.A475V	ENST00000305513.7	37	c.1424	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779587	0.70107	.	.	ENSG00000186532	ENST00000305513	T	0.80480	-1.38	6.03	5.01	0.66863	SET domain (2);	0.503479	0.24048	N	0.042034	T	0.76870	0.4048	L	0.48362	1.52	0.09310	N	1	P	0.45044	0.849	B	0.43990	0.438	T	0.69401	-0.5155	10	0.30078	T	0.28	-3.1435	13.9257	0.63961	0.0:0.0:0.7341:0.2658	.	475	Q8IYR2	SMYD4_HUMAN	V	475	ENSP00000304360:A475V	ENSP00000304360:A475V	A	-	2	0	SMYD4	1650014	0.209000	0.23505	0.376000	0.26042	0.042000	0.13812	2.809000	0.47971	2.861000	0.98227	0.655000	0.94253	GCA	SMYD4	-	pfam_SET_dom		0.512	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	G	XM_056082		1703264	-1	no_errors	ENST00000305513	ensembl	human	known	70_37	missense	SNP	0.032	A	A	1703264	G	A	1703264	3	1	21	1	0	0	0	0	1	0	0	0	14854	1319	46	4	1018	4	SMYD4	17	1703264	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		1703264	79491946	221	3144			2	17		3	3	416	G		8.099861e-06
SMYD4	114826	genome.wustl.edu	37	chr17	1703353	1703353	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgcacagtgcagaaacacaGagagcacagaggaatttgtg	12	8	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:1703353G>C	ENST00000305513.7	-	5	1502	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	445	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CAGAAACACAGAGAGCACAGA	0.453																																																	0													89	82	85					17																	1703353		2203	4300	6503	SO:0001819	synonymous_variant	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1335C>G	17.37:g.1703353G>C			Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.L445	ENST00000305513.7	37	c.1335	CCDS11013.1	17																																																																																			SMYD4	-	pfam_SET_dom		0.453	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	G	XM_056082		1703353	-1	no_errors	ENST00000305513	ensembl	human	known	70_37	silent	SNP	0.005	C	C	1703353	G	C	1703353	2	2	21	1	0	0	0	0	0	0	0	1	14854	929	33	1		1	SMYD4	17	1703353	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	89	1703353	79491857	222	3145			2	17		3	3	416	G		8.099861e-06
SMYD4	114826	genome.wustl.edu	37	chr17	1703679	1703679	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtgagaagcagccctcccaGaggacattctgtcctgtggt	12	11	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:1703679G>C	ENST00000305513.7	-	5	1176	c.1009C>G	c.(1009-1011)Ctg>Gtg	p.L337V		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	337	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AGCCCTCCCAGAGGACATTCT	0.517																																																	0													76	72	73					17																	1703679		2203	4300	6503	SO:0001583	missense	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1009C>G	17.37:g.1703679G>C	ENSP00000304360:p.Leu337Val		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.L337V	ENST00000305513.7	37	c.1009	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	G	8.506	0.865468	0.17250	.	.	ENSG00000186532	ENST00000305513	T	0.09817	2.94	6.17	3.09	0.35607	SET domain (2);	0.269110	0.37623	N	0.002011	T	0.13628	0.0330	L	0.52905	1.665	0.09310	N	1	P	0.50156	0.932	P	0.51324	0.666	T	0.10497	-1.0627	10	0.34782	T	0.22	-0.6691	2.5505	0.04748	0.2221:0.1313:0.5116:0.1349	.	337	Q8IYR2	SMYD4_HUMAN	V	337	ENSP00000304360:L337V	ENSP00000304360:L337V	L	-	1	2	SMYD4	1650429	0.093000	0.21703	0.002000	0.10522	0.029000	0.11900	0.230000	0.17852	0.906000	0.36621	-0.140000	0.14226	CTG	SMYD4	-	pfam_SET_dom		0.517	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	G	XM_056082		1703679	-1	no_errors	ENST00000305513	ensembl	human	known	70_37	missense	SNP	0.001	C	C	1703679	G	C	1703679	3	2	21	1	0	0	0	0	1	0	0	0	14854	933	33	1	1433	1	SMYD4	17	1703679	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	326	1703679	79491531	223	3146			2	17		3	3	416	G		8.099861e-06
PSMB6	5694	genome.wustl.edu	37	chr17	4701366	4701366	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tttgccattggaggctccggGagctcctacatctatggcta	11	11	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:4701366G>C	ENST00000270586.3	+	5	546	c.495G>C	c.(493-495)ggG>ggC	p.G165G		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	165					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GAGGCTCCGGGAGCTCCTACA	0.522																																																	0													114	100	105					17																	4701366		2203	4300	6503	SO:0001819	synonymous_variant	5694			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.495G>C	17.37:g.4701366G>C			Q96J55	Silent	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.G165	ENST00000270586.3	37	c.495	CCDS11056.1	17																																																																																			PSMB6	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB		0.522	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2	G	NM_002798		4701366	1	no_errors	ENST00000270586	ensembl	human	known	70_37	silent	SNP	1.000	C	C	4701366	G	C	4701366	2	2	21	1	0	0	0	0	0	0	0	1	12708	1161	41	1		1	PSMB6	17	4701366	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2997687	4701366	76493844	224	3147										
MYOCD	93649	genome.wustl.edu	37	chr17	12666647	12666647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttgggagcgaagagcctcacTttgatgggataatggatgga	15	5	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:12666647T>G	ENST00000343344.4	+	13	2503	c.2503T>G	c.(2503-2505)Ttt>Gtt	p.F835V	MYOCD_ENST00000425538.1_Missense_Mutation_p.F883V|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	835					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGAGCCTCACTTTGATGGGAT	0.478																																																	0													74	68	70					17																	12666647		2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2503T>G	17.37:g.12666647T>G	ENSP00000341835:p.Phe835Val		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.F883V	ENST00000343344.4	37	c.2647	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321342	0.41096	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.42900	0.96;0.97	6.08	6.08	0.98989	.	0.363370	0.32687	N	0.005761	T	0.58750	0.2144	L	0.60455	1.87	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.965	P;D;P	0.64321	0.841;0.924;0.703	T	0.56202	-0.8018	10	0.39692	T	0.17	-31.5972	15.6264	0.76863	0.0:0.0:0.0:1.0	.	559;883;835	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	V	559;883;835;545	ENSP00000341835:F835V;ENSP00000400148:F545V	ENSP00000341835:F835V	F	+	1	0	MYOCD	12607372	1.000000	0.71417	0.590000	0.28732	0.003000	0.03518	5.194000	0.65125	2.333000	0.79357	0.533000	0.62120	TTT	MYOCD	-	NULL		0.478	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	T	NM_153604		12666647	1	no_errors	ENST00000425538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12666647	T	G	12666647	3	3	21	1	0	0	0	0	1	0	0	0	10110	1609	56	5	2713	5	MYOCD	17	12666647	Missense_Mutation	SNP	T	TCGA-C5-A1MH-01A-11D-A14W-08	7965281	12666647	68528563	225	3148										
ANKRD13B	124930	genome.wustl.edu	37	chr17	27938969	27938969	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aatacttcaaccccaactttGagctgggcaaccgtgatatg	8	11	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:27938969G>C	ENST00000394859.3	+	10	1199	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	349						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCCAACTTTGAGCTGGGCAA	0.612																																																	0													72	68	69					17																	27938969		2203	4300	6503	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1045G>C	17.37:g.27938969G>C	ENSP00000378328:p.Glu349Gln		Q8N7S9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.E349Q	ENST00000394859.3	37	c.1045	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997845	0.54147	.	.	ENSG00000198720	ENST00000394859	T	0.44083	0.93	5.97	5.97	0.96955	.	0.276856	0.43747	D	0.000536	T	0.38799	0.1054	L	0.33485	1.01	0.47547	D	0.999459	B	0.21071	0.051	B	0.23018	0.043	T	0.08868	-1.0701	10	0.46703	T	0.11	-31.9063	20.0384	0.97572	0.0:0.0:1.0:0.0	.	349	Q86YJ7	AN13B_HUMAN	Q	349	ENSP00000378328:E349Q	ENSP00000378328:E349Q	E	+	1	0	ANKRD13B	24963095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.086000	0.71352	2.837000	0.97791	0.655000	0.94253	GAG	ANKRD13B	-	pfam_ANKRD13		0.612	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	G	NM_152345		27938969	1	no_errors	ENST00000394859	ensembl	human	known	70_37	missense	SNP	0.999	C	C	27938969	G	C	27938969	3	2	21	1	0	0	0	0	1	0	0	0	642	1291	45	1	1083	1	ANKRD13B	17	27938969	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	15272322	27938969	53256241	226	3149										
SSH2	85464	genome.wustl.edu	37	chr17	27958302	27958302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggattcacaggaggcaggctCcctctctggtaagcagtctt	12	11	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:27958302C>T	ENST00000269033.3	-	15	3980	c.3829G>A	c.(3829-3831)Gag>Aag	p.E1277K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E1304K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1277					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGCAGGCTCCCTCTCTGGT	0.522																																																	0													98	94	95					17																	27958302		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3829G>A	17.37:g.27958302C>T	ENSP00000269033:p.Glu1277Lys		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E1277K	ENST00000269033.3	37	c.3829	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935727	0.34189	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.44083	0.93;0.93	6.03	2.96	0.34315	.	0.125782	0.53938	D	0.000049	T	0.38719	0.1051	M	0.64997	1.995	0.22771	N	0.99876	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.35649	-0.9780	10	0.54805	T	0.06	-4.1134	9.4992	0.39006	0.0:0.7535:0.1186:0.128	.	1304;1277	F5H527;Q76I76	.;SSH2_HUMAN	K	1277;1304	ENSP00000269033:E1277K;ENSP00000444743:E1304K	ENSP00000269033:E1277K	E	-	1	0	SSH2	24982428	0.996000	0.38824	0.003000	0.11579	0.936000	0.57629	2.369000	0.44231	0.429000	0.26202	-0.137000	0.14449	GAG	SSH2	-	NULL		0.522	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	C	NM_033389		27958302	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	missense	SNP	0.017	T	T	27958302	C	T	27958302	3	4	21	1	0	0	0	0	1	0	0	0	15215	864	30	1	446	1	SSH2	17	27958302	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	19333	27958302	53236908	227	3150										
SSH2	85464	genome.wustl.edu	37	chr17	27977722	27977722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttccagtacgccaggagatcCgttgcctcttcatcatatac	7	13	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:27977722C>T	ENST00000269033.3	-	12	1246	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.T392T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	365	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGGAGATCCGTTGCCTCTT	0.433																																																	0													228	197	208					17																	27977722		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1095G>A	17.37:g.27977722C>T			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.T365	ENST00000269033.3	37	c.1095	CCDS11253.1	17																																																																																			SSH2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.433	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	C	NM_033389		27977722	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	0.053	T	T	27977722	C	T	27977722	2	4	21	1	0	0	0	0	0	0	0	1	15215	639	23	2		2	SSH2	17	27977722	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	19420	27977722	53217488	228	3151										
CRLF3	51379	genome.wustl.edu	37	chr17	29111235	29111235	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aacactttccatccaggataGaaaaatgagcatccaaagta	6	9	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:29111235G>C	ENST00000324238.6	-	8	1423	c.1299C>G	c.(1297-1299)ttC>ttG	p.F433L	CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000577725.1_5'Flank|CRLF3_ENST00000544695.1_Missense_Mutation_p.F317L	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	433					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATCCAGGATAGAAAAATGAGC	0.398																																					Pancreas(30;346 881 29244 33464 41299)												0													93	85	87					17																	29111235		2203	4300	6503	SO:0001583	missense	51379			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1299C>G	17.37:g.29111235G>C	ENSP00000318804:p.Phe433Leu		A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.F433L	ENST00000324238.6	37	c.1299	CCDS32607.1	17	.	.	.	.	.	.	.	.	.	.	g	9.079	0.998776	0.19121	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.62639	0.01;0.01	5.17	2.05	0.26809	.	0.266297	0.40222	N	0.001144	T	0.37019	0.0988	N	0.22421	0.69	0.28127	N	0.930341	B	0.14438	0.01	B	0.16289	0.015	T	0.15492	-1.0435	10	0.07813	T	0.8	-17.8661	4.4938	0.11826	0.3756:0.0:0.4674:0.157	.	433	Q8IUI8	CRLF3_HUMAN	L	433;317	ENSP00000318804:F433L;ENSP00000444188:F317L	ENSP00000318804:F433L	F	-	3	2	CRLF3	26135361	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.638000	0.24674	0.686000	0.31488	-0.251000	0.11542	TTC	CRLF3	-	NULL		0.398	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF3	HGNC	protein_coding	OTTHUMT00000444354.1	G			29111235	-1	no_errors	ENST00000324238	ensembl	human	known	70_37	missense	SNP	0.992	C	C	29111235	G	C	29111235	3	2	21	1	0	0	0	0	1	0	0	0	3893	933	33	1	33	1	CRLF3	17	29111235	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1133513	29111235	52083975	229	3152										
CCR7	1236	genome.wustl.edu	37	chr17	38711879	38711879	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtcttgagcctcttgaaataGatataggtcaacacgaccag	9	9	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:38711879G>C	ENST00000246657.2	-	3	314	c.252C>G	c.(250-252)atC>atG	p.I84M	CCR7_ENST00000579344.1_Missense_Mutation_p.I78M	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	84					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TCTTGAAATAGATATAGGTCA	0.532																																																	0													102	97	99					17																	38711879		2203	4300	6503	SO:0001583	missense	1236				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.252C>G	17.37:g.38711879G>C	ENSP00000246657:p.Ile84Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11	p.I84M	ENST00000246657.2	37	c.252	CCDS11369.1	17	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461320	0.43736	.	.	ENSG00000126353	ENST00000246657	T	0.38560	1.13	5.04	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.319150	0.32314	N	0.006272	T	0.45637	0.1352	L	0.45051	1.395	0.36789	D	0.884733	P	0.34629	0.46	P	0.51055	0.657	T	0.52808	-0.8526	10	0.45353	T	0.12	.	5.7915	0.18363	0.0803:0.129:0.6428:0.1478	.	84	P32248	CCR7_HUMAN	M	84	ENSP00000246657:I84M	ENSP00000246657:I84M	I	-	3	3	CCR7	35965405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.097000	0.50251	2.619000	0.88677	0.561000	0.74099	ATC	CCR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4		0.532	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1	G			38711879	-1	no_errors	ENST00000246657	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38711879	G	C	38711879	3	2	21	1	0	0	0	0	1	0	0	0	2951	932	33	1	888	1	CCR7	17	38711879	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	9600644	38711879	42483331	230	3153										
SMARCE1	6605	genome.wustl.edu	37	chr17	38788620	38788620	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgaaaagccatcatcataatCtggagtgaacaaattgttct	7	7	4	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:38788620C>G	ENST00000348513.6	-	8	1322		c.e8-1		SMARCE1_ENST00000431889.2_Splice_Site|SMARCE1_ENST00000544009.1_Splice_Site|SMARCE1_ENST00000377808.4_Splice_Site|SMARCE1_ENST00000578044.1_Splice_Site|KRT222_ENST00000476049.1_Splice_Site|SMARCE1_ENST00000400122.3_Splice_Site|SMARCE1_ENST00000580419.1_Splice_Site	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TCATCATAATCTGGAGTGAAC	0.433																																																	0													54	55	55					17																	38788620		2203	4300	6503	SO:0001630	splice_region_variant	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.542-1G>C	17.37:g.38788620C>G			B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Splice_Site	SNP	-	e7-1	ENST00000348513.6	37	c.542-1	CCDS11370.1	17	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704674	0.68615	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000400122;ENST00000377808	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCE1	36042146	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.511000	0.81718	2.770000	0.95276	0.655000	0.94253	.	SMARCE1	-	-		0.433	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	C	NM_003079	Intron	38788620	-1	no_errors	ENST00000348513	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	38788620	C	G	38788620	5	3	21	1	0	0	0	0	0	0	1	0	14810	927	32	1	710	1	SMARCE1	17	38788620	Splice_Site	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	76741	38788620	42406590	231	3154										
NMT1	4836	genome.wustl.edu	37	chr17	43163889	43163889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtccagatgaactctttgcCagcagagaggatccaggaaa	11	9	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:43163889C>T	ENST00000592782.1	+	4	385	c.254C>T	c.(253-255)cCa>cTa	p.P85L	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.P85L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	85					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AACTCTTTGCCAGCAGAGAGG	0.463																																																	0													69	60	63					17																	43163889		2203	4300	6503	SO:0001583	missense	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.254C>T	17.37:g.43163889C>T	ENSP00000468424:p.Pro85Leu		A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.P85L	ENST00000592782.1	37	c.254	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.063469	0.93898	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.42900	0.96;1.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.71206	2.165	0.80722	D	1	D	0.62365	0.991	P	0.59288	0.855	T	0.63589	-0.6603	10	0.66056	D	0.02	-1.4984	19.6556	0.95837	0.0:1.0:0.0:0.0	.	85	P30419	NMT1_HUMAN	L	85	ENSP00000258960:P85L;ENSP00000439263:P85L	ENSP00000258960:P85L	P	+	2	0	NMT1	40519415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.564000	0.82326	2.882000	0.98803	0.655000	0.94253	CCA	NMT1	-	pirsf_MyristoylCoA_TrFase		0.463	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	C	NM_021079		43163889	1	no_errors	ENST00000258960	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43163889	C	T	43163889	3	4	21	1	0	0	0	0	1	0	0	0	10527	594	21	4	264	4	NMT1	17	43163889	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4375269	43163889	38031321	232	3155										
ABCC3	8714	genome.wustl.edu	37	chr17	48735556	48735556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cctccatttttctccgcaaaGaatgtcgaccctgtgagttt	7	12	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:48735556G>C	ENST00000285238.8	+	5	680	c.600G>C	c.(598-600)aaG>aaC	p.K200N	ABCC3_ENST00000427699.1_Missense_Mutation_p.K200N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	200					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCTCCGCAAAGAATGTCGACC	0.572																																																	0													149	137	141					17																	48735556		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.600G>C	17.37:g.48735556G>C	ENSP00000285238:p.Lys200Asn		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.K200N	ENST00000285238.8	37	c.600	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	7.882	0.730412	0.15507	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.87103	-2.21;-2.21	6.04	2.91	0.33838	.	0.652062	0.15150	N	0.277777	T	0.80476	0.4630	L	0.41573	1.285	0.09310	N	1	B;B	0.29341	0.242;0.206	B;B	0.34536	0.054;0.185	T	0.64744	-0.6335	10	0.16420	T	0.52	-9.8882	8.2677	0.31824	0.1622:0.1806:0.6572:0.0	.	200;200	O15438;O15438-5	MRP3_HUMAN;.	N	200	ENSP00000395160:K200N;ENSP00000285238:K200N	ENSP00000285238:K200N	K	+	3	2	ABCC3	46090555	0.113000	0.22115	0.003000	0.11579	0.090000	0.18270	0.372000	0.20467	0.906000	0.36621	0.561000	0.74099	AAG	ABCC3	-	tigrfam_Multidrug-R_assoc		0.572	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	G	NM_020038		48735556	1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	0.001	C	C	48735556	G	C	48735556	3	2	21	1	0	0	0	0	1	0	0	0	54	933	33	1	618	1	ABCC3	17	48735556	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5571667	48735556	32459654	233	3156										
C17orf71	55181	genome.wustl.edu	37	chr17	57290613	57290613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gactagagctgaagatgaagGagacttagacacaaactctt	10	7	1	6			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:57290613G>C	ENST00000543872.2	+	4	2693	c.2429G>C	c.(2428-2430)gGa>gCa	p.G810A	SMG8_ENST00000300917.5_Missense_Mutation_p.G810A|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	810					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAAGATGAAGGAGACTTAGAC	0.433																																																	0													140	137	138					17																	57290613		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2429G>C	17.37:g.57290613G>C	ENSP00000438748:p.Gly810Ala		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.G810A	ENST00000543872.2	37	c.2429	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892300	0.33442	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44482	0.92;0.92	6.07	6.07	0.98685	.	0.148304	0.64402	D	0.000008	T	0.34745	0.0908	N	0.21448	0.665	0.48762	D	0.999701	B	0.14012	0.009	B	0.11329	0.006	T	0.04440	-1.0951	10	0.40728	T	0.16	-16.0931	19.6475	0.95784	0.0:0.0:1.0:0.0	.	810	Q8ND04	SMG8_HUMAN	A	810	ENSP00000300917:G810A;ENSP00000438748:G810A	ENSP00000300917:G810A	G	+	2	0	SMG8	54645395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.519000	0.81809	2.885000	0.99019	0.655000	0.94253	GGA	SMG8	-	pfam_Smg8/Smg9		0.433	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57290613	1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57290613	G	C	57290613	3	2	21	1	0	0	0	0	1	0	0	0	1882	1174	41	1	2439	1	C17orf71	17	57290613	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	8555057	57290613	23904597	234	3157										
GNA13	10672	genome.wustl.edu	37	chr17	63010459	63010459	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aggcggatgttctccgtgttGatagcagtggtgaagtggtg	17	5	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:63010459G>C	ENST00000439174.2	-	4	1295	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	GNA13_ENST00000541118.1_Missense_Mutation_p.I255M	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	350					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCTCCGTGTTGATAGCAGTGG	0.473																																																	0													142	107	119					17																	63010459		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1050C>G	17.37:g.63010459G>C	ENSP00000400717:p.Ile350Met		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.I350M	ENST00000439174.2	37	c.1050	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983395	0.53827	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88741	-2.42;-2.42	5.93	2.55	0.30701	.	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	M	0.67569	2.06	0.53005	D	0.999961	D	0.71674	0.998	D	0.81914	0.995	D	0.88575	0.3132	10	0.87932	D	0	.	2.7106	0.05174	0.4155:0.0:0.3788:0.2057	.	350	Q14344	GNA13_HUMAN	M	350;255;325	ENSP00000400717:I350M;ENSP00000439647:I255M	ENSP00000239138:I325M	I	-	3	3	GNA13	60440921	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	1.699000	0.37804	0.807000	0.34208	0.655000	0.94253	ATC	GNA13	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha12		0.473	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	G	NM_006572		63010459	-1	no_errors	ENST00000439174	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63010459	G	C	63010459	3	2	21	1	0	0	0	0	1	0	0	0	6520	1280	45	1	87	1	GNA13	17	63010459	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	5719846	63010459	18184751	235	3158										
NOL11	25926	genome.wustl.edu	37	chr17	65717522	65717522	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agaagtatataggatactttCagtgcaagggacagaaccct	10	7	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:65717522C>G	ENST00000253247.4	+	4	456	c.341C>G	c.(340-342)tCa>tGa	p.S114*	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	114					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGATACTTTCAGTGCAAGGG	0.368																																																	0													98	97	97					17																	65717522		2203	4300	6503	SO:0001587	stop_gained	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.341C>G	17.37:g.65717522C>G	ENSP00000253247:p.Ser114*		B7Z5V9|Q7L5S1|Q9UG18	Nonsense_Mutation	SNP	pfam_NUC205	p.S114*	ENST00000253247.4	37	c.341	CCDS11671.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218308	0.79464	.	.	ENSG00000130935	ENST00000253247	.	.	.	5.28	5.28	0.74379	.	0.189591	0.46758	D	0.000275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.862	16.1846	0.81942	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000253247:S114X	S	+	2	0	NOL11	63147984	1.000000	0.71417	0.975000	0.42487	0.769000	0.43574	5.195000	0.65131	2.640000	0.89533	0.561000	0.74099	TCA	NOL11	-	NULL		0.368	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	C	NM_015462		65717522	1	no_errors	ENST00000253247	ensembl	human	known	70_37	nonsense	SNP	0.980	G	G	65717522	C	G	65717522	4	3	21	1	0	0	0	0	0	1	0	0	10545	838	29	1	355	1	NOL11	17	65717522	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2707063	65717522	15477688	236	3159										
DNAI2	64446	genome.wustl.edu	37	chr17	72285751	72285751	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agggacccccaggaaatcaaGagggctgccacacacctctc	10	15	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr17:72285751G>C	ENST00000311014.6	+	5	553	c.486G>C	c.(484-486)aaG>aaC	p.K162N	DNAI2_ENST00000446837.2_Missense_Mutation_p.K162N|DNAI2_ENST00000307504.5_Missense_Mutation_p.K19N|DNAI2_ENST00000579490.1_Missense_Mutation_p.K219N|DNAI2_ENST00000582036.1_Missense_Mutation_p.K162N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	162					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGAAATCAAGAGGGCTGCCA	0.552									Kartagener syndrome																																								0													46	47	46					17																	72285751		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.486G>C	17.37:g.72285751G>C	ENSP00000308312:p.Lys162Asn		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.K162N	ENST00000311014.6	37	c.486	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127934	0.56721	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.15834	2.39;2.39;2.39	5.14	1.68	0.24146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.089346	0.85682	D	0.000000	T	0.41190	0.1148	M	0.92833	3.35	0.46823	D	0.999216	P	0.51653	0.947	P	0.58820	0.846	T	0.39482	-0.9612	10	0.66056	D	0.02	-36.2084	7.6797	0.28507	0.4555:0.0:0.5445:0.0	.	162	Q9GZS0	DNAI2_HUMAN	N	162;19;162	ENSP00000308312:K162N;ENSP00000302929:K19N;ENSP00000400252:K162N	ENSP00000302929:K19N	K	+	3	2	DNAI2	69797346	1.000000	0.71417	0.986000	0.45419	0.672000	0.39443	1.307000	0.33516	0.569000	0.29329	0.313000	0.20887	AAG	DNAI2	-	superfamily_WD40_repeat_dom		0.552	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72285751	1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.999	C	C	72285751	G	C	72285751	3	2	21	1	0	0	0	0	1	0	0	0	4620	933	33	1	500	1	DNAI2	17	72285751	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6568229	72285751	8909459	237	3160										
NDC80	10403	genome.wustl.edu	37	chr18	2616481	2616481	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aagttgatagagaatatgaaGaatgcatgtcagaagatctc	10	4	2	6			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:2616481G>C	ENST00000261597.4	+	17	2019	c.1837G>C	c.(1837-1839)Gaa>Caa	p.E613Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	613	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AGAATATGAAGAATGCATGTC	0.274																																																	0													45	48	47					18																	2616481		2200	4282	6482	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1837G>C	18.37:g.2616481G>C	ENSP00000261597:p.Glu613Gln		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E613Q	ENST00000261597.4	37	c.1837	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840535	0.51057	.	.	ENSG00000080986	ENST00000261597	T	0.51817	0.69	5.47	5.47	0.80525	.	0.149539	0.64402	D	0.000013	T	0.50017	0.1591	M	0.62723	1.935	0.45528	D	0.998487	P	0.46706	0.883	B	0.42827	0.399	T	0.45745	-0.9240	10	0.27082	T	0.32	-10.3988	18.4596	0.90734	0.0:0.0:1.0:0.0	.	613	O14777	NDC80_HUMAN	Q	613	ENSP00000261597:E613Q	ENSP00000261597:E613Q	E	+	1	0	NDC80	2606481	1.000000	0.71417	0.939000	0.37840	0.482000	0.33219	5.693000	0.68264	2.717000	0.92951	0.555000	0.69702	GAA	NDC80	-	NULL		0.274	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2616481	1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2616481	G	C	2616481	3	2	21	1	0	0	0	0	1	0	0	0	10266	943	33	1	1899	1	NDC80	18	2616481	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		2616481	75460767	238	3161										
ANKRD12	23253	genome.wustl.edu	37	chr18	9258686	9258686	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tctttactacaagcaaaagaGaaaactcagcaatctctggc	6	10	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:9258686G>A	ENST00000262126.4	+	9	5661	c.5421G>A	c.(5419-5421)gaG>gaA	p.E1807E	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.E1784E|ANKRD12_ENST00000383440.2_Silent_p.E1784E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1807						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAGCAAAAGAGAAAACTCAGC	0.423																																																	0													71	72	72					18																	9258686		2203	4300	6503	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5421G>A	18.37:g.9258686G>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E1807	ENST00000262126.4	37	c.5421	CCDS11843.1	18																																																																																			ANKRD12	-	NULL		0.423	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9258686	1	no_errors	ENST00000262126	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9258686	G	A	9258686	2	1	21	1	0	0	0	0	0	0	0	1	640	933	33	1		1	ANKRD12	18	9258686	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6642205	9258686	68818562	239	3162										
PTPN2	5771	genome.wustl.edu	37	chr18	12830990	12830990	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atgacaactgctttggtcttCtgctgccaaaccataagcca	7	12	2	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:12830990C>G	ENST00000309660.5	-	4	405	c.312G>C	c.(310-312)caG>caC	p.Q104H	PTPN2_ENST00000353319.4_Missense_Mutation_p.Q104H|PTPN2_ENST00000327283.3_Missense_Mutation_p.Q104H|PTPN2_ENST00000591115.1_Missense_Mutation_p.Q104H|PTPN2_ENST00000591497.1_Missense_Mutation_p.Q75H	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	104	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTTTGGTCTTCTGCTGCCAAA	0.433																																																	0													67	62	63					18																	12830990		2203	4300	6503	SO:0001583	missense	5771			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.312G>C	18.37:g.12830990C>G	ENSP00000311857:p.Gln104His		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q104H	ENST00000309660.5	37	c.312	CCDS11865.1	18	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438781	0.62955	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.84442	-1.85;-1.85;-1.85	5.39	2.86	0.33363	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.50627	D	0.000106	D	0.90017	0.6883	M	0.71581	2.175	0.50632	D	0.999889	D;D;D;D;D	0.89917	0.999;0.996;0.997;1.0;0.997	D;P;D;D;D	0.97110	0.979;0.894;0.976;1.0;0.936	D	0.88278	0.2934	10	0.87932	D	0	.	8.7948	0.34872	0.0:0.1715:0.0:0.8285	.	104;104;81;104;104	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	H	104;104;81;104	ENSP00000320298:Q104H;ENSP00000320546:Q104H;ENSP00000311857:Q104H	ENSP00000311857:Q104H	Q	-	3	2	PTPN2	12820990	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.556000	0.23438	0.281000	0.22233	-0.345000	0.07892	CAG	PTPN2	-	pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.433	PTPN2-002	KNOWN	basic|CCDS	protein_coding	PTPN2	HGNC	protein_coding	OTTHUMT00000254613.3	C	NM_002828, NM_080422, NM_080423		12830990	-1	no_errors	ENST00000309660	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12830990	C	G	12830990	3	3	21	1	0	0	0	0	1	0	0	0	12813	912	32	1	985	1	PTPN2	18	12830990	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3572304	12830990	65246258	240	3163										
CTAGE1	64693	genome.wustl.edu	37	chr18	19995686	19995686	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ataatctggagaagctccaaAcacggttcctggaggaggtg	13	8	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:19995686A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.F697L			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GAAGCTCCAAACACGGTTCCT	0.483																																																	0													62	69	67					18																	19995686		2138	4249	6387	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995686A>G	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.F697L	ENST00000525417.1	37	c.2089		18	.	.	.	.	.	.	.	.	.	.	A	7.358	0.624267	0.14193	.	.	ENSG00000212710	ENST00000391403	T	0.39406	1.08	0.614	0.614	0.17603	.	.	.	.	.	T	0.29652	0.0740	L	0.41027	1.25	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.22312	-1.0220	7	.	.	.	.	.	.	.	.	697	Q96RT6	CTGE2_HUMAN	L	697	ENSP00000375220:F697L	.	F	-	1	0	CTAGE1	18249684	0.989000	0.36119	0.166000	0.22797	0.083000	0.17756	2.550000	0.45811	0.486000	0.27676	0.248000	0.18094	TTT	CTAGE1	-	NULL		0.483	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	A	NM_022663, NM_172241		19995686	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	missense	SNP	0.402	G	G	19995686	A	G	19995686	1	3	21	0	1	0	0	0	0	0	0	0	3997	43	2	5		5	CTAGE1	18	19995686	5'Flank	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	7164696	19995686	58081562	241	3164										
LAMA3	3909	genome.wustl.edu	37	chr18	21492846	21492846	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgtaccttggaaataaagatGtaagtattgcttggacatct	9	5	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:21492846G>A	ENST00000313654.9	+	56	7570		c.e56+1		LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAATAAAGATGTAAGTATTGC	0.413																																																	0													116	106	110					18																	21492846		2203	4300	6503	SO:0001630	splice_region_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7329+1G>A	18.37:g.21492846G>A			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	-	e56+1	ENST00000313654.9	37	c.7329+1	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759749	0.89932	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7174	0.96129	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19746844	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.677000	0.91203	2.653000	0.90120	0.655000	0.94253	.	LAMA3	-	-		0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129	Intron	21492846	1	no_errors	ENST00000313654	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	21492846	G	A	21492846	5	1	21	1	0	0	0	0	0	0	1	0	8627	1391	48	4	7727	4	LAMA3	18	21492846	Splice_Site	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1497160	21492846	56584402	242	3165										
KLHL14	57565	genome.wustl.edu	37	chr18	30350039	30350039	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcgttgaggaactgcacgcaGagcttggtgacctgggggat	16	8	0	3	rs373913345		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:30350039G>A	ENST00000359358.4	-	2	954	c.516C>T	c.(514-516)ctC>ctT	p.L172L	KLHL14_ENST00000358095.4_Silent_p.L172L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	172						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACTGCACGCAGAGCTTGGTGA	0.607																																																	0								G		0,4406		0,0,2203	119	104	109		516	2.5	1	18		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL14	NM_020805.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		172/629	30350039	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.516C>T	18.37:g.30350039G>A			A6NNW1|B4DHA0|Q8WU41	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L172	ENST00000359358.4	37	c.516	CCDS32813.1	18																																																																																			KLHL14	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.607	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	G			30350039	-1	no_errors	ENST00000359358	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30350039	G	A	30350039	2	1	21	1	0	0	0	0	0	0	0	1	8390	929	33	1		1	KLHL14	18	30350039	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	8857193	30350039	47727209	243	3166										
SERPINB12	89777	genome.wustl.edu	37	chr18	61228375	61228376	+	Frame_Shift_Ins	INS	-	-	A													0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gattgaaagtgttgatttccINSaaaaaaaccctgaaaaatcc							TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:61228375_61228376insA	ENST00000269491.1	+	4	442_443	c.442_443insA	c.(442-444)caafs	p.Q148fs	SERPINB12_ENST00000382768.1_Frame_Shift_Ins_p.Q168fs	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	148					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCCT	0.386																																																	0																																										SO:0001589	frameshift_variant	89777			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.449dupA	18.37:g.61228382_61228382dupA	ENSP00000269491:p.Gln148fs		Q3SYB4	Frame_Shift_Ins	INS	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.N150fs	ENST00000269491.1	37	c.442_443	CCDS11984.1	18																																																																																			SERPINB12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.386	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	-	NM_080474		61228376	1	no_errors	ENST00000269491	ensembl	human	known	70_37	frame_shift_ins	INS	0.524:0.009	A	A	61228376	-	A	61228375	7	5	21	1	0	1	1	0	0	0	0	0	14129	595	21	0	456	0	SERPINB12	18	61228375	Frame_Shift_Ins	INS	-	TCGA-C5-A1MH-01A-11D-A14W-08	30878336	61228375	16848873	244	3167										
ZNF516	9658	genome.wustl.edu	37	chr18	74092249	74092249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcggaaaagcagcagcggcgCggctgtccccctagaggagg	16	12	0	1	rs533522002		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr18:74092249C>T	ENST00000443185.2	-	4	2138	c.1821G>A	c.(1819-1821)ccG>ccA	p.P607P	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGCAGCGGCGCGGCTGTCCCC	0.542													C|||	1	0.000199681	0	0.0014	5008	,	,		18517	0		0	False		,,,				2504	0																0													33	36	35					18																	74092249		1983	4147	6130	SO:0001819	synonymous_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1821G>A	18.37:g.74092249C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P607	ENST00000443185.2	37	c.1821		18																																																																																			ZNF516	-	NULL		0.542	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		C	NM_014643		74092249	-1	no_errors	ENST00000443185	ensembl	human	known	70_37	silent	SNP	0.062	T	T	74092249	C	T	74092249	2	4	21	1	0	0	0	0	0	0	0	1	17990	755	27	2		2	ZNF516	18	74092249	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	12863874	74092249	3984999	245	3168										
THOP1	7064	genome.wustl.edu	37	chr19	2813158	2813158	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tcctgagacccggcggttccGaggatgccagcgccatgctg	14	14	0	1	rs371442536		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:2813158G>C	ENST00000307741.6	+	13	2157	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	THOP1_ENST00000586677.1_Missense_Mutation_p.E531Q|THOP1_ENST00000395212.4_Missense_Mutation_p.E221Q	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	652					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGGTTCCGAGGATGCCAG	0.677																																																	0													18	19	18					19																	2813158		2199	4298	6497	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1954G>C	19.37:g.2813158G>C	ENSP00000304467:p.Glu652Gln		B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E652Q	ENST00000307741.6	37	c.1954	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	g	11.73	1.725510	0.30593	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.11495	3.16;2.77	4.91	-8.84	0.00803	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.735128	0.12724	N	0.444430	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19331	0.003;0.035;0.001	B;B;B	0.26416	0.009;0.069;0.009	T	0.41998	-0.9477	10	0.45353	T	0.12	-20.0077	16.0095	0.80391	0.0778:0.296:0.6262:0.0	.	531;221;652	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	Q	652;221	ENSP00000304467:E652Q;ENSP00000378638:E221Q	ENSP00000304467:E652Q	E	+	1	0	THOP1	2764158	0.000000	0.05858	0.568000	0.28447	0.696000	0.40369	-1.190000	0.03058	-0.517000	0.06461	0.556000	0.70494	GAG	THOP1	-	pfam_Pept_M3A_M3B		0.677	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2813158	1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	0.001	C	C	2813158	G	C	2813158	3	2	21	1	0	0	0	0	1	0	0	0	15901	1059	37	1	2004	1	THOP1	19	2813158	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		2813158	56315825	246	3169										
TNFAIP8L1	126282	genome.wustl.edu	37	chr19	4651990	4651990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggtggatgacaccagcagtGaggtgctggatgagctgtac	16	7	0	3	rs536114490		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:4651990G>C	ENST00000536716.1	+	2	255	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.E37Q	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	37					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCAGTGAGGTGCTGGA	0.612																																																	0													64	55	58					19																	4651990		2203	4300	6503	SO:0001583	missense	126282			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.109G>C	19.37:g.4651990G>C	ENSP00000444215:p.Glu37Gln		D6W627	Missense_Mutation	SNP	pfam_DUF758	p.E37Q	ENST00000536716.1	37	c.109	CCDS12132.1	19	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444033	0.43429	.	.	ENSG00000185361	ENST00000327473;ENST00000536716	T;T	0.37411	1.2;1.2	4.43	2.16	0.27623	.	0.069380	0.56097	N	0.000025	T	0.43722	0.1260	M	0.85945	2.785	0.49213	D	0.999764	B	0.16802	0.019	B	0.18263	0.021	T	0.48468	-0.9033	10	0.62326	D	0.03	-11.4981	13.5829	0.61913	0.0:0.2552:0.7448:0.0	.	37	Q8WVP5	TP8L1_HUMAN	Q	37	ENSP00000331827:E37Q;ENSP00000444215:E37Q	ENSP00000331827:E37Q	E	+	1	0	TNFAIP8L1	4602990	1.000000	0.71417	0.498000	0.27564	0.082000	0.17680	6.386000	0.73186	0.279000	0.22186	0.455000	0.32223	GAG	TNFAIP8L1	-	pfam_DUF758		0.612	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	HGNC	protein_coding	OTTHUMT00000458662.1	G	NM_152362		4651990	1	no_errors	ENST00000327473	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4651990	G	C	4651990	3	2	21	1	0	0	0	0	1	0	0	0	16307	1291	45	1	111	1	TNFAIP8L1	19	4651990	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1838832	4651990	54476993	247	3170										
ACSBG2	81616	genome.wustl.edu	37	chr19	6183146	6183146	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gatcactgtcactcttttatCagtgggactgcgcccctcaa	8	13	5	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:6183146C>T	ENST00000586696.1	+	10	1461	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	ACSBG2_ENST00000588304.1_Silent_p.I345I|ACSBG2_ENST00000252669.5_Silent_p.I395I|ACSBG2_ENST00000591403.1_Silent_p.I395I|ACSBG2_ENST00000588485.1_Silent_p.I208I|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	395					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCTTTTATCAGTGGGACTG	0.502																																																	0													107	100	102					19																	6183146		2203	4300	6503	SO:0001819	synonymous_variant	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1185C>T	19.37:g.6183146C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.I395	ENST00000586696.1	37	c.1185	CCDS12159.1	19																																																																																			ACSBG2	-	pfam_AMP-dep_Synth/Lig		0.502	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	C	NM_030924		6183146	1	no_errors	ENST00000252669	ensembl	human	known	70_37	silent	SNP	0.955	T	T	6183146	C	T	6183146	2	4	21	1	0	0	0	0	0	0	0	1	174	816	29	1		1	ACSBG2	19	6183146	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	1531156	6183146	52945837	248	3171										
SLC25A23	79085	genome.wustl.edu	37	chr19	6454376	6454376	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atagctgactcgggggcaatCttgagtacattaataccatt	9	8	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:6454376C>G	ENST00000301454.4	-	6	859	c.753G>C	c.(751-753)aaG>aaC	p.K251N	SLC25A23_ENST00000414491.2_Missense_Mutation_p.K68N|SLC25A23_ENST00000334510.5_Missense_Mutation_p.K251N	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	251					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CGGGGGCAATCTTGAGTACAT	0.542																																																	0													120	119	119					19																	6454376		2203	4300	6503	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.753G>C	19.37:g.6454376C>G	ENSP00000301454:p.Lys251Asn		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.K298N	ENST00000301454.4	37	c.894	CCDS32882.1	19	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796436	0.50208	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.79	3.69	0.42338	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.92026	3.265	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89269	0.3603	10	0.87932	D	0	-42.9491	6.1688	0.20406	0.0:0.6746:0.0:0.3254	.	68;251	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	N	298;251;68;251	ENSP00000264088:K298N;ENSP00000301454:K251N;ENSP00000408814:K68N;ENSP00000334537:K251N	ENSP00000264088:K298N	K	-	3	2	SLC25A23	6405376	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	1.075000	0.30716	1.462000	0.47948	0.655000	0.94253	AAG	SLC25A23	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.542	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A23	HGNC	protein_coding	OTTHUMT00000453325.1	C	NM_024103		6454376	-1	no_errors	ENST00000264088	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6454376	C	G	6454376	3	3	21	1	0	0	0	0	1	0	0	0	14516	912	32	1	673	1	SLC25A23	19	6454376	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	271230	6454376	52674607	249	3172										
MYO1F	4542	genome.wustl.edu	37	chr19	8620554	8620554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccagggtacgaagatgtagtCgtccatgaagcgcttccgga	13	10	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:8620554C>T	ENST00000338257.8	-	2	397	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	44	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGATGTAGTCGTCCATGAAG	0.612																																																	0													89	95	93					19																	8620554		2047	4193	6240	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.130G>A	19.37:g.8620554C>T	ENSP00000344871:p.Asp44Asn		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.D44N	ENST00000338257.8	37	c.130	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279182	0.80692	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95171	-3.63	3.92	3.92	0.45320	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	L	0.34521	1.04	0.80722	D	1	P;D;D	0.76494	0.533;0.994;0.999	B;D;D	0.63793	0.216;0.918;0.918	D	0.91135	0.4941	10	0.12766	T	0.61	.	14.6749	0.68972	0.0:1.0:0.0:0.0	.	44;44;44	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	N	89;44	ENSP00000344871:D44N	ENSP00000304899:D89N	D	-	1	0	MYO1F	8526554	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.440000	0.80464	2.032000	0.59987	0.462000	0.41574	GAC	MYO1F	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	C			8620554	-1	no_errors	ENST00000338257	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8620554	C	T	8620554	3	4	21	1	0	0	0	0	1	0	0	0	10096	884	31	1	3274	1	MYO1F	19	8620554	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2166178	8620554	50508429	250	3173										
COL5A3	50509	genome.wustl.edu	37	chr19	10112470	10112470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gatcgtggcattgagtccagTagtcacagtggaggtgacga	15	7	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:10112470T>C	ENST00000264828.3	-	7	1022	c.937A>G	c.(937-939)Act>Gct	p.T313A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	313	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGAGTCCAGTAGTCACAGTG	0.567											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													140	126	131					19																	10112470		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.937A>G	19.37:g.10112470T>C	ENSP00000264828:p.Thr313Ala	662	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.T313A	ENST00000264828.3	37	c.937	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	T	4.475	0.088017	0.08583	.	.	ENSG00000080573	ENST00000264828	D	0.88896	-2.44	4.95	-7.74	0.01241	.	3.532380	0.01351	U	0.011919	T	0.77003	0.4067	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68573	-0.5373	10	0.08837	T	0.75	.	6.3045	0.21131	0.1123:0.5285:0.1147:0.2445	.	313	P25940	CO5A3_HUMAN	A	313	ENSP00000264828:T313A	ENSP00000264828:T313A	T	-	1	0	COL5A3	9973470	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.984000	0.01487	-1.876000	0.01131	-0.464000	0.05259	ACT	COL5A3	-	NULL		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	T	NM_015719		10112470	-1	no_errors	ENST00000264828	ensembl	human	known	70_37	missense	SNP	0.000	C	C	10112470	T	C	10112470	3	2	21	1	0	0	0	0	1	0	0	0	3703	1638	57	5	4544	5	COL5A3	19	10112470	Missense_Mutation	SNP	T	TCGA-C5-A1MH-01A-11D-A14W-08	1491916	10112470	49016513	251	3174										
SLC44A2	57153	genome.wustl.edu	37	chr19	10741983	10741983	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaatgccccgaccgctacctCacgtacctgaatgctcgcag	8	16	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:10741983C>T	ENST00000335757.5	+	6	739	c.363C>T	c.(361-363)ctC>ctT	p.L121L	SLC44A2_ENST00000407327.4_Silent_p.L119L|SLC44A2_ENST00000586078.1_Silent_p.L121L			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	121					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ACCGCTACCTCACGTACCTGA	0.542																																																	0													117	116	117					19																	10741983		2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.363C>T	19.37:g.10741983C>T			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	pfam_Choline_transptr-like	p.L121	ENST00000335757.5	37	c.363	CCDS12245.1	19																																																																																			SLC44A2	-	NULL		0.542	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	C			10741983	1	no_errors	ENST00000335757	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10741983	C	T	10741983	2	4	21	1	0	0	0	0	0	0	0	1	14666	813	29	1		1	SLC44A2	19	10741983	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	629513	10741983	48387000	252	3175										
ELAVL3	1995	genome.wustl.edu	37	chr19	11565683	11565683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggcgagaacctggcgatgagCgacaggggactactttgggg	18	8	0	2	rs567829899		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:11565683C>T	ENST00000359227.3	-	7	1186	c.762G>A	c.(760-762)tcG>tcA	p.S254S	ELAVL3_ENST00000438662.2_Intron	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	254					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCGATGAGCGACAGGGGAC	0.677																																																	0													120	135	130					19																	11565683		2201	4289	6490	SO:0001819	synonymous_variant	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.762G>A	19.37:g.11565683C>T			Q16135|Q96CL8|Q96QS9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S254	ENST00000359227.3	37	c.762	CCDS32912.1	19																																																																																			ELAVL3	-	tigrfam_ELAD_HUD_SF		0.677	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	C	NM_001420		11565683	-1	no_errors	ENST00000359227	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11565683	C	T	11565683	2	4	21	1	0	0	0	0	0	0	0	1	5063	755	27	2		2	ELAVL3	19	11565683	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	823700	11565683	47563300	253	3176										
RFX1	5989	genome.wustl.edu	37	chr19	14073987	14073987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggcctgggctacgcggtgctCgatcaggtagtacatgtact	14	10	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:14073987C>T	ENST00000254325.4	-	19	2905	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	891	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ACGCGGTGCTCGATCAGGTAG	0.706																																																	0													65	58	60					19																	14073987		2203	4300	6503	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2671G>A	19.37:g.14073987C>T	ENSP00000254325:p.Glu891Lys			Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.E891K	ENST00000254325.4	37	c.2671	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	c	36	5.696963	0.96802	.	.	ENSG00000132005	ENST00000254325	T	0.48836	0.8	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.81883	-0.0728	10	0.72032	D	0.01	-27.9178	17.1643	0.86811	0.0:1.0:0.0:0.0	.	891	P22670	RFX1_HUMAN	K	891	ENSP00000254325:E891K	ENSP00000254325:E891K	E	-	1	0	RFX1	13934987	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.667000	0.83888	2.360000	0.80028	0.430000	0.28490	GAG	RFX1	-	NULL		0.706	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	C	NM_002918		14073987	-1	no_errors	ENST00000254325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14073987	C	T	14073987	3	4	21	1	0	0	0	0	1	0	0	0	13292	893	31	1	280	1	RFX1	19	14073987	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2508304	14073987	45054996	254	3177										
UNC13A	23025	genome.wustl.edu	37	chr19	17768894	17768894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agggcttgtggctcagagaaCtcctcgtaactgtgcatgga	13	9	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:17768894C>A	ENST00000519716.2	-	9	743	c.744G>T	c.(742-744)gaG>gaT	p.E248D	UNC13A_ENST00000551649.1_Missense_Mutation_p.E248D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E248D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E336D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E248D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E248D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	248					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTCAGAGAACTCCTCGTAAC	0.602																																																	0													74	75	75					19																	17768894		2056	4208	6264	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.744G>T	19.37:g.17768894C>A	ENSP00000429562:p.Glu248Asp		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E336D	ENST00000519716.2	37	c.1008	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	5.500	0.277204	0.10403	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.78481	-1.17;-1.18;-1.17;-1.03;-1.04;-1.16	4.64	0.851	0.18989	.	2.309830	0.03043	U	0.153555	T	0.41743	0.1172	N	0.00446	-1.495	0.20764	N	0.999853	B	0.02656	0.0	B	0.01281	0.0	T	0.49380	-0.8946	10	0.10636	T	0.68	-20.7365	2.6129	0.04896	0.1481:0.3922:0.344:0.1157	.	248	Q9UPW8	UN13A_HUMAN	D	248;336;248;248;248;248	ENSP00000429562:E248D;ENSP00000400409:E336D;ENSP00000252773:E248D;ENSP00000447236:E248D;ENSP00000447572:E248D;ENSP00000446831:E248D	ENSP00000252773:E248D	E	-	3	2	UNC13A	17629894	0.998000	0.40836	1.000000	0.80357	0.904000	0.53231	0.676000	0.25247	0.349000	0.23975	0.491000	0.48974	GAG	UNC13A	-	NULL		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	C	XM_038604		17768894	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17768894	C	A	17768894	3	1	21	1	0	0	0	0	1	0	0	0	17015	564	20	4	4503	4	UNC13A	19	17768894	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3694907	17768894	41360089	255	3178										
B3GNT3	10331	genome.wustl.edu	37	chr19	17919158	17919158	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcagtgggacttccacgactCcttcttcaacctcacgctca	7	16	4	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:17919158C>G	ENST00000318683.6	+	2	689	c.542C>G	c.(541-543)tCc>tGc	p.S181C	B3GNT3_ENST00000595387.1_Missense_Mutation_p.S181C	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	181					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCCACGACTCCTTCTTCAAC	0.622																																																	0													38	37	37					19																	17919158		2202	4298	6500	SO:0001583	missense	10331			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.542C>G	19.37:g.17919158C>G	ENSP00000321874:p.Ser181Cys		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.S181C	ENST00000318683.6	37	c.542	CCDS12364.1	19	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288385	0.40494	.	.	ENSG00000179913	ENST00000318683	T	0.48522	0.81	3.92	2.78	0.32641	.	0.555807	0.16857	U	0.196709	T	0.69187	0.3083	M	0.88241	2.94	0.23669	N	0.997159	D	0.65815	0.995	D	0.66979	0.948	T	0.59289	-0.7482	10	0.72032	D	0.01	.	10.5298	0.44971	0.0:0.801:0.199:0.0	.	181	Q9Y2A9	B3GN3_HUMAN	C	181	ENSP00000321874:S181C	ENSP00000321874:S181C	S	+	2	0	B3GNT3	17780158	0.002000	0.14202	0.987000	0.45799	0.482000	0.33219	1.522000	0.35921	1.733000	0.51620	0.297000	0.19635	TCC	B3GNT3	-	pfam_Glyco_trans_31		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	HGNC	protein_coding	OTTHUMT00000466877.1	C	NM_014256		17919158	1	no_errors	ENST00000318683	ensembl	human	known	70_37	missense	SNP	0.410	G	G	17919158	C	G	17919158	3	3	21	1	0	0	0	0	1	0	0	0	1259	855	30	1	544	1	B3GNT3	19	17919158	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	150264	17919158	41209825	256	3179										
KIAA0355	9710	genome.wustl.edu	37	chr19	34791603	34791603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacactactcctatcgccgaCatccagcagggcatctccaa	6	17	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:34791603C>T	ENST00000299505.6	+	2	1098	c.225C>T	c.(223-225)gaC>gaT	p.D75D		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	75										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTATCGCCGACATCCAGCAGG	0.602																																																	0													72	62	65					19																	34791603		2203	4300	6503	SO:0001819	synonymous_variant	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.225C>T	19.37:g.34791603C>T			Q2M3W4	Silent	SNP	NULL	p.D75	ENST00000299505.6	37	c.225	CCDS12436.1	19																																																																																			KIAA0355	-	NULL		0.602	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	C	NM_014686		34791603	1	no_errors	ENST00000299505	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34791603	C	T	34791603	2	4	21	1	0	0	0	0	0	0	0	1	8190	477	17	4		4	KIAA0355	19	34791603	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	16872445	34791603	24337380	257	3180										
RYR1	6261	genome.wustl.edu	37	chr19	38991620	38991620	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgacatgagggcagccgcctCgctggacacggtgagcaacc	14	14	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:38991620C>A	ENST00000359596.3	+	47	7604	c.7604C>A	c.(7603-7605)tCg>tAg	p.S2535*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.S2535*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.S2535*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2535	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGCCGCCTCGCTGGACACG	0.622																																																	0																																										SO:0001587	stop_gained	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7604C>A	19.37:g.38991620C>A	ENSP00000352608:p.Ser2535*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S2535*	ENST00000359596.3	37	c.7604	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	50	16.690763	0.99869	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	15.9284	0.79639	0.0:1.0:0.0:0.0	.	.	.	.	X	2535	.	ENSP00000347667:S2535X	S	+	2	0	RYR1	43683460	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.621000	0.83083	2.259000	0.74868	0.491000	0.48974	TCG	RYR1	-	NULL		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38991620	1	no_errors	ENST00000359596	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	38991620	C	A	38991620	4	1	21	1	0	0	0	0	0	1	0	0	13798	893	31	3	7790	3	RYR1	19	38991620	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4200017	38991620	20137363	258	3181										
SARS2	54938	genome.wustl.edu	37	chr19	39408622	39408622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtcccgtgtttgtctctgccCggtagcaggtgctggagcaa	14	11	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:39408622C>T	ENST00000221431.6	-	11	1148	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	SARS2_ENST00000430193.3_Missense_Mutation_p.R330Q|SARS2_ENST00000594171.1_Missense_Mutation_p.R140Q|SARS2_ENST00000598831.1_5'Flank|SARS2_ENST00000448145.2_Missense_Mutation_p.R330Q|SARS2_ENST00000600042.1_Missense_Mutation_p.R332Q|CTC-360G5.8_ENST00000599996.1_Silent_p.P399P	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	330					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGTCTCTGCCCGGTAGCAGGT	0.597																																																	0													95	74	81					19																	39408622		2203	4300	6503	SO:0001583	missense	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.989G>A	19.37:g.39408622C>T	ENSP00000221431:p.Arg330Gln		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.R332Q	ENST00000221431.6	37	c.995	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	c	26.8	4.767829	0.90020	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	D;D	0.96830	-4.14;-4.14	4.88	4.88	0.63580	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.97291	3.975	.	.	.	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.83275	0.924;0.834;0.924;0.996	D	0.99581	1.0973	9	0.87932	D	0	.	15.5397	0.76031	0.0:1.0:0.0:0.0	.	330;332;330;330	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	Q	332;330;330	ENSP00000221431:R330Q;ENSP00000399330:R330Q	ENSP00000221431:R330Q	R	-	2	0	FBXO17	44100462	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	7.079000	0.76829	2.263000	0.75096	0.424000	0.28305	CGG	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1		0.597	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1	C	NM_017827		39408622	-1	no_errors	ENST00000600042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39408622	C	T	39408622	3	4	21	1	0	0	0	0	1	0	0	0	13875	652	23	2	591	2	SARS2	19	39408622	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	417002	39408622	19720361	259	3182										
PRX	57716	genome.wustl.edu	37	chr19	40904465	40904465	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgatggcggggaatggggctCacggcgcagagaccggatcg	19	10	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:40904465C>T	ENST00000324001.7	-	6	652				PRX_ENST00000291825.7_Silent_p.*148*	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin						axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAATGGGGCTCACGGCGCAGA	0.652																																																	0													22	28	26					19																	40904465		2200	4294	6494	SO:0001627	intron_variant	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.381+61G>A	19.37:g.40904465C>T			Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.*148	ENST00000324001.7	37	c.443	CCDS33028.1	19																																																																																			PRX	-	NULL		0.652	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	C	NM_020956		40904465	-1	no_errors	ENST00000291825	ensembl	human	known	70_37	silent	SNP	0.010	T	T	40904465	C	T	40904465	1	4	21	0	1	0	0	0	0	0	0	0	12669	837	29	1		1	PRX	19	40904465	Intron	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	1495843	40904465	18224518	260	3183										
LTBP4	8425	genome.wustl.edu	37	chr19	41133092	41133092	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cccgccgggaggctccttatGgggcaccccgcttcgacatg	13	16	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:41133092G>C	ENST00000308370.7	+	32	4396	c.4396G>C	c.(4396-4398)Ggg>Cgg	p.G1466R	LTBP4_ENST00000204005.9_Missense_Mutation_p.G1429R|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.G834R|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.G1399R	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1467	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCTCCTTATGGGGCACCCCG	0.682																																																	0													17	23	21					19																	41133092		1927	4112	6039	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4396G>C	19.37:g.41133092G>C	ENSP00000311905:p.Gly1466Arg		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G1466R	ENST00000308370.7	37	c.4396		19	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744095	0.49151	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83591	-1.25;-1.74;-1.26;-1.24	4.84	3.79	0.43588	.	0.000000	0.37577	N	0.002030	T	0.77232	0.4100	.	.	.	0.28811	N	0.898227	B;P;P;P;P;P	0.42692	0.452;0.551;0.59;0.787;0.59;0.59	B;B;B;B;B;B	0.38842	0.126;0.283;0.243;0.219;0.159;0.159	T	0.74662	-0.3590	9	0.66056	D	0.02	.	12.5112	0.56007	0.0:0.1681:0.8319:0.0	.	227;479;687;1399;1467;1429	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	R	1429;834;1466;1399;227	ENSP00000204005:G1429R;ENSP00000441054:G834R;ENSP00000311905:G1466R;ENSP00000380031:G1399R	ENSP00000204005:G1429R	G	+	1	0	LTBP4	45824932	1.000000	0.71417	0.148000	0.22405	0.524000	0.34500	4.279000	0.58953	1.249000	0.43950	0.655000	0.94253	GGG	LTBP4	-	NULL		0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41133092	1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	0.524	C	C	41133092	G	C	41133092	3	2	21	1	0	0	0	0	1	0	0	0	9099	1348	47	4	4813	4	LTBP4	19	41133092	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	228627	41133092	17995891	261	3184										
ZNF226	7769	genome.wustl.edu	37	chr19	44680964	44680964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agagcttcaggaggaattccCattatcaagttcatctagtg	9	8	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:44680964C>T	ENST00000590089.1	+	7	1916	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y	ZNF226_ENST00000337433.5_Missense_Mutation_p.H517Y|ZNF226_ENST00000454662.2_Missense_Mutation_p.H517Y|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				GAGGAATTCCCATTATCAAGT	0.433																																					Pancreas(115;581 1665 13228 19278 50070)												0													66	71	69					19																	44680964		2194	4298	6492	SO:0001583	missense	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1549C>T	19.37:g.44680964C>T	ENSP00000465121:p.His517Tyr		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H517Y	ENST00000590089.1	37	c.1549	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628841	0.28978	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.13089	2.62;2.62	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.523108	0.14358	N	0.324634	T	0.17152	0.0412	L	0.27053	0.805	0.09310	N	1	D	0.61080	0.989	P	0.61070	0.883	T	0.06734	-1.0810	10	0.41790	T	0.15	.	6.4252	0.21766	0.1838:0.7127:0.0:0.1035	.	517	Q9NYT6	ZN226_HUMAN	Y	517	ENSP00000336719:H517Y;ENSP00000393265:H517Y	ENSP00000336719:H517Y	H	+	1	0	ZNF226	49372804	0.000000	0.05858	0.154000	0.22540	0.993000	0.82548	-1.637000	0.02015	2.201000	0.70794	0.655000	0.94253	CAT	ZNF226	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	C			44680964	1	no_errors	ENST00000337433	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44680964	C	T	44680964	3	4	21	1	0	0	0	0	1	0	0	0	17810	594	21	4	1617	4	ZNF226	19	44680964	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3547872	44680964	14448019	262	3185										
ZNF227	7770	genome.wustl.edu	37	chr19	44740722	44740722	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cagagggtccacacgggagaGaaaccccatatatgtgagga	13	9	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:44740722G>A	ENST00000313040.7	+	6	2344	c.2139G>A	c.(2137-2139)gaG>gaA	p.E713E	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Silent_p.E662E|ZNF227_ENST00000589005.1_Silent_p.E662E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	713					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACACGGGAGAGAAACCCCATA	0.488																																																	0													94	97	96					19																	44740722		2203	4300	6503	SO:0001819	synonymous_variant	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2139G>A	19.37:g.44740722G>A			B3KRU7|B7Z5P9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E713	ENST00000313040.7	37	c.2139	CCDS12636.1	19																																																																																			ZNF227	-	pfscan_Znf_C2H2		0.488	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	G	NM_182490		44740722	1	no_errors	ENST00000313040	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44740722	G	A	44740722	2	1	21	1	0	0	0	0	0	0	0	1	17811	933	33	1		1	ZNF227	19	44740722	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	59758	44740722	14388261	263	3186										
RSPH6A	81492	genome.wustl.edu	37	chr19	46307697	46307697	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggctgacctgcgtggcggccGagatgcgggctatctgggcc	18	12	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:46307697G>C	ENST00000221538.3	-	3	1608	c.1466C>G	c.(1465-1467)tCg>tGg	p.S489W	RSPH6A_ENST00000597055.1_Missense_Mutation_p.S489W|RSPH6A_ENST00000600188.1_Missense_Mutation_p.S225W	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	489						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGTGGCGGCCGAGATGCGGGC	0.642																																																	0													45	45	45					19																	46307697		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1466C>G	19.37:g.46307697G>C	ENSP00000221538:p.Ser489Trp		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.S489W	ENST00000221538.3	37	c.1466	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085656	0.55861	.	.	ENSG00000104941	ENST00000221538	T	0.27104	1.69	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	M	0.89095	3.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.65705	-0.6103	10	0.87932	D	0	-4.8867	14.008	0.64478	0.0:0.0:1.0:0.0	.	489	Q9H0K4	RSH6A_HUMAN	W	489	ENSP00000221538:S489W	ENSP00000221538:S489W	S	-	2	0	RSPH6A	50999537	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	8.993000	0.93524	2.428000	0.82296	0.456000	0.33151	TCG	RSPH6A	-	pfam_Radial_spoke		0.642	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	G			46307697	-1	no_errors	ENST00000221538	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46307697	G	C	46307697	3	2	21	1	0	0	0	0	1	0	0	0	13737	1059	37	1	703	1	RSPH6A	19	46307697	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1566975	46307697	12821286	264	3187										
IRF2BP1	26145	genome.wustl.edu	37	chr19	46388496	46388496	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctcaagccgggtgccagcgtCaggcctcggcttcccaggcc	13	17	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:46388496C>G	ENST00000302165.3	-	1	880	c.537G>C	c.(535-537)ctG>ctC	p.L179L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GTGCCAGCGTCAGGCCTCGGC	0.647																																																	0													29	36	34					19																	46388496		2199	4289	6488	SO:0001819	synonymous_variant	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.537G>C	19.37:g.46388496C>G			Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.L179	ENST00000302165.3	37	c.537	CCDS12678.1	19																																																																																			IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.647	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	C	NM_015649		46388496	-1	no_errors	ENST00000302165	ensembl	human	known	70_37	silent	SNP	0.949	G	G	46388496	C	G	46388496	2	3	21	1	0	0	0	0	0	0	0	1	7849	813	29	1		1	IRF2BP1	19	46388496	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	80799	46388496	12740487	265	3188										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47422775	47422775	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gacaagtatgagtggctggtGagtcgcattgtgaaaaacca	13	6	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:47422775G>C	ENST00000404338.3	+	1	843	c.843G>C	c.(841-843)gtG>gtC	p.V281V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	281	FF 1.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGTGGCTGGTGAGTCGCATTG	0.458																																																	0													49	50	49					19																	47422775		2026	4211	6237	SO:0001819	synonymous_variant	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.843G>C	19.37:g.47422775G>C			A7E2A4|Q14452|Q9C0E1	Silent	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V281	ENST00000404338.3	37	c.843	CCDS46127.1	19																																																																																			ARHGAP35	-	smart_FF_domain		0.458	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47422775	1	no_errors	ENST00000404338	ensembl	human	known	70_37	silent	SNP	1.000	C	C	47422775	G	C	47422775	2	2	21	1	0	0	0	0	0	0	0	1	6815	1277	45	1		1	ARHGAP35	19	47422775	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1034279	47422775	11706208	266	3189										
MYH14	79784	genome.wustl.edu	37	chr19	50760689	50760689	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agccgcctcatggccacactCagcaacaccaaccccagttt	6	18	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:50760689C>G	ENST00000596571.1	+	15	2055	c.2055C>G	c.(2053-2055)ctC>ctG	p.L685L	MYH14_ENST00000425460.1_Silent_p.L693L|MYH14_ENST00000601313.1_Silent_p.L726L|MYH14_ENST00000598205.1_Silent_p.L693L|MYH14_ENST00000376970.2_Silent_p.L718L|MYH14_ENST00000262269.8_Silent_p.L726L|MYH14_ENST00000440075.2_Silent_p.L726L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	685	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGGCCACACTCAGCAACACCA	0.647																																																	0													31	35	34					19																	50760689		2130	4250	6380	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2055C>G	19.37:g.50760689C>G			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L726	ENST00000596571.1	37	c.2178	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	C	NM_024729		50760689	1	no_errors	ENST00000262269	ensembl	human	known	70_37	silent	SNP	1.000	G	G	50760689	C	G	50760689	2	3	21	1	0	0	0	0	0	0	0	1	10056	813	29	1		1	MYH14	19	50760689	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	3337914	50760689	8368294	267	3190										
ZNF347	84671	genome.wustl.edu	37	chr19	53644231	53644231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtttctctccagtatgaattCgctgatgccttgaaaggtat	9	8	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:53644231C>T	ENST00000334197.7	-	5	1918	c.1850G>A	c.(1849-1851)cGa>cAa	p.R617Q	ZNF347_ENST00000452676.2_Missense_Mutation_p.R618Q|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R618Q	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCGCTGATGCCT	0.393																																					Melanoma(64;205 1597 17324 45721)												0													115	110	112					19																	53644231		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1850G>A	19.37:g.53644231C>T	ENSP00000334146:p.Arg617Gln		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R618Q	ENST00000334197.7	37	c.1853	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445416	0.43429	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.24723	1.84;1.84	3.01	-2.07	0.07276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34424	0.0897	L	0.53617	1.68	0.09310	N	1	D;P	0.89917	1.0;0.952	P;B	0.61658	0.892;0.361	T	0.19976	-1.0289	9	0.62326	D	0.03	.	4.7383	0.12999	0.0:0.4101:0.2947:0.2952	.	618;617	G5E9N4;Q96SE7	.;ZN347_HUMAN	Q	617;618	ENSP00000334146:R617Q;ENSP00000405218:R618Q	ENSP00000334146:R617Q	R	-	2	0	ZNF347	58336043	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.211000	0.09332	-0.453000	0.07076	-0.882000	0.02950	CGA	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	C	NM_032584		53644231	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	missense	SNP	0.001	T	T	53644231	C	T	53644231	3	4	21	1	0	0	0	0	1	0	0	0	17891	884	31	1	673	1	ZNF347	19	53644231	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	2883542	53644231	5484752	268	3191										
C19orf51	352909	genome.wustl.edu	37	chr19	55677762	55677762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cggagccgaagccgctgccgGagccggcaggtgtggtcatc	17	13	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:55677762G>C	ENST00000524407.2	-	2	53	c.20C>G	c.(19-21)tCc>tGc	p.S7C	snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000455045.1_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.S54C|DNAAF3_ENST00000527223.2_Missense_Mutation_p.S54C|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	7					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCCGCTGCCGGAGCCGGCAGG	0.657											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	48	44					19																	55677762		2015	4162	6177	SO:0001583	missense	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.20C>G	19.37:g.55677762G>C	ENSP00000432046:p.Ser7Cys	1009	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	NULL	p.S54C	ENST00000524407.2	37	c.161	CCDS59422.1	19	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875491	0.72180	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.21734	1.99	4.68	3.6	0.41247	.	0.987781	0.08255	N	0.973969	T	0.23572	0.0570	L	0.47716	1.5	0.44417	D	0.997333	B;B;B	0.22683	0.073;0.073;0.073	B;B;B	0.25884	0.064;0.064;0.064	T	0.04373	-1.0956	10	0.66056	D	0.02	-17.1679	11.2675	0.49118	0.0:0.3585:0.6415:0.0	.	54;7;7	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	C	54	ENSP00000375600:S54C	ENSP00000301249:S54C	S	-	2	0	C19orf51	60369574	0.708000	0.27876	0.551000	0.28230	0.238000	0.25445	1.818000	0.39012	1.273000	0.44346	0.655000	0.94253	TCC	DNAAF3	-	NULL		0.657	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	G	NM_178837		55677762	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	missense	SNP	0.582	C	C	55677762	G	C	55677762	3	2	21	1	0	0	0	0	1	0	0	0	1938	1174	41	1	1649	1	C19orf51	19	55677762	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	2033531	55677762	3451221	269	3192										
NLRP8	126205	genome.wustl.edu	37	chr19	56477742	56477742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cccggtgccgtctgcagtgtCtcaggtgagatttgagaggg	16	9	2	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:56477742C>T	ENST00000291971.3	+	5	2448	c.2377C>T	c.(2377-2379)Ctc>Ttc	p.L793F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L793F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	793					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTGCAGTGTCTCAGGTGAGA	0.542																																																	0													65	66	66					19																	56477742		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2377C>T	19.37:g.56477742C>T	ENSP00000291971:p.Leu793Phe		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L793F	ENST00000291971.3	37	c.2377	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157958	0.38119	.	.	ENSG00000179709	ENST00000291971	T	0.79554	-1.28	1.82	1.82	0.25136	.	.	.	.	.	D	0.89729	0.6799	M	0.92026	3.265	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.975;0.995	T	0.77640	-0.2512	9	0.87932	D	0	.	7.1467	0.25587	0.0:1.0:0.0:0.0	.	793;793	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	793	ENSP00000291971:L793F	ENSP00000291971:L793F	L	+	1	0	NLRP8	61169554	0.198000	0.23374	0.044000	0.18714	0.012000	0.07955	0.223000	0.17719	1.308000	0.44962	0.557000	0.71058	CTC	NLRP8	-	NULL		0.542	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	C	NM_176811		56477742	1	no_errors	ENST00000291971	ensembl	human	known	70_37	missense	SNP	0.071	T	T	56477742	C	T	56477742	3	4	21	1	0	0	0	0	1	0	0	0	10507	913	32	1	2395	1	NLRP8	19	56477742	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	799980	56477742	2651241	270	3193										
ZNF71	58491	genome.wustl.edu	37	chr19	57133525	57133525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cacctgaccgagcaccagcgCacgcacaccggggagaagcc	12	17	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:57133525C>T	ENST00000328070.6	+	3	1104	c.870C>T	c.(868-870)cgC>cgT	p.R290R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCACCAGCGCACGCACACCG	0.657																																																	0													61	62	62					19																	57133525		2203	4300	6503	SO:0001819	synonymous_variant	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.870C>T	19.37:g.57133525C>T			Q15919|Q9UC09|Q9UQD3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R290	ENST00000328070.6	37	c.870	CCDS12947.1	19																																																																																			ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57133525	1	no_errors	ENST00000328070	ensembl	human	known	70_37	silent	SNP	0.001	T	T	57133525	C	T	57133525	2	4	21	1	0	0	0	0	0	0	0	1	18144	697	25	4		4	ZNF71	19	57133525	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	655783	57133525	1995458	271	3194										
ZSCAN18	65982	genome.wustl.edu	37	chr19	58596539	58596539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ggatgacggactgcctctgcGatccggtggcagagtcggac	16	11	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:58596539G>A	ENST00000240727.6	-	7	1445	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S349L|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.S213L|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S405L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	349					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGCCTCTGCGATCCGGTGGC	0.706																																																	0													17	21	20					19																	58596539		2200	4292	6492	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1046C>T	19.37:g.58596539G>A	ENSP00000240727:p.Ser349Leu		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S405L	ENST00000240727.6	37	c.1214	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	G	7.809	0.715325	0.15306	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02395	4.53;4.31	3.34	-2.62	0.06152	.	2.121080	0.02436	N	0.084036	T	0.01558	0.0050	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.23058	0.047;0.028;0.079;0.011	B;B;B;B	0.12156	0.003;0.005;0.007;0.003	T	0.42999	-0.9418	10	0.31617	T	0.26	1.1628	0.301	0.00273	0.2656:0.1452:0.2949:0.2943	.	405;213;348;349	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	L	405;349;213	ENSP00000240727:S349L;ENSP00000392653:S213L	ENSP00000240727:S349L	S	-	2	0	ZSCAN18	63288351	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.162000	0.16501	-0.438000	0.07232	-1.086000	0.02197	TCG	ZSCAN18	-	NULL		0.706	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	G	NM_023926		58596539	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	missense	SNP	0.001	A	A	58596539	G	A	58596539	3	1	21	1	0	0	0	0	1	0	0	0	18260	1059	37	1	490	1	ZSCAN18	19	58596539	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1463014	58596539	532444	272	3195										
ZNF329	79673	genome.wustl.edu	37	chr19	58640056	58640056	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tctggtgctgtgtcagagctGagccatcactgaaagctttc	11	10	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr19:58640056G>A	ENST00000598312.1	-	4	1048	c.815C>T	c.(814-816)tCa>tTa	p.S272L	ZNF329_ENST00000358067.4_Missense_Mutation_p.S272L	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTCAGAGCTGAGCCATCACT	0.438																																																	0													131	123	126					19																	58640056		2203	4300	6503	SO:0001583	missense	79673			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.815C>T	19.37:g.58640056G>A	ENSP00000470008:p.Ser272Leu		B3KR32|Q9H9R7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S272L	ENST00000598312.1	37	c.815	CCDS12972.1	19	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229201	0.39399	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.17854	2.25;2.25	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001766	T	0.35393	0.0930	M	0.79123	2.44	0.42723	D	0.993689	D	0.64830	0.994	P	0.57911	0.829	T	0.13202	-1.0518	10	0.62326	D	0.03	-7.5275	11.5727	0.50843	0.0:0.0:0.821:0.179	.	272	Q86UD4	ZN329_HUMAN	L	272	ENSP00000350773:S272L;ENSP00000439527:S272L	ENSP00000350773:S272L	S	-	2	0	ZNF329	63331868	0.001000	0.12720	1.000000	0.80357	0.944000	0.59088	0.814000	0.27239	2.617000	0.88574	0.655000	0.94253	TCA	ZNF329	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	G	NM_024620		58640056	-1	no_errors	ENST00000358067	ensembl	human	known	70_37	missense	SNP	0.991	A	A	58640056	G	A	58640056	3	1	21	1	0	0	0	0	1	0	0	0	17877	1294	45	1	814	1	ZNF329	19	58640056	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	43517	58640056	488927	273	3196										
SLC4A11	83959	genome.wustl.edu	37	chr20	3210347	3210347	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgaggctggcgccgaggcctGacaggctgacaagggatgaa	17	9	0	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:3210347G>C	ENST00000380056.3	-	13	1660	c.1613C>G	c.(1612-1614)tCa>tGa	p.S538*	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Nonsense_Mutation_p.S522*|SLC4A11_ENST00000380059.3_Nonsense_Mutation_p.S565*	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	538	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCGAGGCCTGACAGGCTGAC	0.602																																					NSCLC(190;922 2139 10266 10292 38692)												0													84	84	84					20																	3210347		2203	4300	6503	SO:0001587	stop_gained	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1613C>G	20.37:g.3210347G>C	ENSP00000369396:p.Ser538*		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.S565*	ENST00000380056.3	37	c.1694	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437746	0.83885	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	.	.	.	4.88	-0.22	0.13130	.	19.171700	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	2.3616	0.04308	0.3351:0.0:0.2767:0.3882	.	.	.	.	X	565;538;522	.	ENSP00000369396:S538X	S	-	2	0	SLC4A11	3158347	0.032000	0.19561	0.021000	0.16686	0.037000	0.13140	1.281000	0.33214	0.294000	0.22547	-0.521000	0.04368	TCA	SLC4A11	-	pfam_HCO3_transpt_C		0.602	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	G			3210347	-1	no_errors	ENST00000380059	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	3210347	G	C	3210347	4	2	21	1	0	0	0	0	0	1	0	0	14682	1294	45	1	1090	1	SLC4A11	20	3210347	Nonsense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		3210347	59815173	274	3197										
HAO1	54363	genome.wustl.edu	37	chr20	7920973	7920973	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atcagccaaagtttcttcatCatttgccccagacctgtaat	5	12	4	1	rs375310753		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:7920973C>T	ENST00000378789.3	-	1	148	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	33	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTTTCTTCATCATTTGCCCCA	0.318																																																	0								C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	68	67	67		97	5.2	1	20		67	0,8600		0,0,4300	no	missense	HAO1	NM_017545.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	33/371	7920973	1,13005	2203	4300	6503	SO:0001583	missense	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.97G>A	20.37:g.7920973C>T	ENSP00000368066:p.Asp33Asn		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.D33N	ENST00000378789.3	37	c.97	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272158	0.59649	2.27E-4	0.0	ENSG00000101323	ENST00000378789	T	0.34667	1.35	5.16	5.16	0.70880	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.220504	0.51477	D	0.000094	T	0.41213	0.1149	L	0.58810	1.83	0.58432	D	0.999991	B;B	0.16802	0.019;0.019	B;B	0.25987	0.065;0.065	T	0.32640	-0.9899	10	0.59425	D	0.04	-3.493	17.7728	0.88497	0.0:1.0:0.0:0.0	.	33;33	A8K058;Q9UJM8	.;HAOX1_HUMAN	N	33	ENSP00000368066:D33N	ENSP00000368066:D33N	D	-	1	0	HAO1	7868973	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.501000	0.60393	2.548000	0.85928	0.561000	0.74099	GAT	HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.318	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	C			7920973	-1	no_errors	ENST00000378789	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7920973	C	T	7920973	3	4	21	1	0	0	0	0	1	0	0	0	6971	826	29	1	1047	1	HAO1	20	7920973	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4710626	7920973	55104547	275	3198										
COX4I2	84701	genome.wustl.edu	37	chr20	30232672	30232672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctgtgcagggcctggcctccCgctgggactatgagaagaag	15	11	0	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:30232672C>T	ENST00000376075.3	+	5	556	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	161			R -> H (in dbSNP:rs11907253). {ECO:0000269|PubMed:11311561}.		cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CCTGGCCTCCCGCTGGGACTA	0.622																																																	0													75	65	69					20																	30232672		2203	4300	6503	SO:0001583	missense	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.481C>T	20.37:g.30232672C>T	ENSP00000365243:p.Arg161Cys		Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4	p.R161C	ENST00000376075.3	37	c.481	CCDS13187.1	20	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628535	0.67015	.	.	ENSG00000131055	ENST00000376075	T	0.56275	0.47	4.38	3.4	0.38934	.	0.324544	0.28442	N	0.015337	T	0.44540	0.1298	L	0.39898	1.24	0.38682	D	0.952566	D	0.56035	0.974	B	0.43990	0.438	T	0.51631	-0.8681	10	0.87932	D	0	-17.387	9.8792	0.41222	0.0:0.7917:0.2083:0.0	.	161	Q96KJ9	COX42_HUMAN	C	161	ENSP00000365243:R161C	ENSP00000365243:R161C	R	+	1	0	COX4I2	29696333	1.000000	0.71417	0.641000	0.29422	0.847000	0.48162	2.807000	0.47955	0.999000	0.39023	0.313000	0.20887	CGC	COX4I2	-	pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4		0.622	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX4I2	HGNC	protein_coding	OTTHUMT00000078548.1	C	NM_032609		30232672	1	no_errors	ENST00000376075	ensembl	human	known	70_37	missense	SNP	0.984	T	T	30232672	C	T	30232672	3	4	21	1	0	0	0	0	1	0	0	0	3775	652	23	2	495	2	COX4I2	20	30232672	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	22311699	30232672	32792848	276	3199										
C20orf118	140711	genome.wustl.edu	37	chr20	35515883	35515883	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	taagtggactggaagcaactCtttctttgtgaagggagact	12	6	2	2	rs544561249		TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:35515883C>G	ENST00000217320.3	+	5	508	c.464C>G	c.(463-465)tCt>tGt	p.S155C	TLDC2_ENST00000602922.1_Missense_Mutation_p.S155C	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	155	TLD.																GGAAGCAACTCTTTCTTTGTG	0.532											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													167	153	157					20																	35515883		2203	4300	6503	SO:0001583	missense	140711			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.464C>G	20.37:g.35515883C>G	ENSP00000217320:p.Ser155Cys	855	B3KVU8	Missense_Mutation	SNP	pfam_TLDc,smart_TLDc	p.S155C	ENST00000217320.3	37	c.464	CCDS33465.1	20	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682043	0.47991	.	.	ENSG00000101342	ENST00000217320;ENST00000436941	T	0.46063	0.88	5.25	5.25	0.73442	TLDc (2);	0.171248	0.52532	D	0.000061	T	0.59348	0.2187	M	0.64170	1.965	0.34621	D	0.718605	D	0.76494	0.999	D	0.69142	0.962	T	0.70999	-0.4719	10	0.62326	D	0.03	-9.1378	12.8391	0.57790	0.1629:0.8371:0.0:0.0	.	155	A0PJX2	CT118_HUMAN	C	155;9	ENSP00000217320:S155C	ENSP00000217320:S155C	S	+	2	0	C20orf118	34949297	0.965000	0.33210	1.000000	0.80357	0.977000	0.68977	2.288000	0.43514	2.452000	0.82932	0.561000	0.74099	TCT	C20orf118	-	pfam_TLDc,smart_TLDc		0.532	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf118	HGNC	protein_coding	OTTHUMT00000079060.2	C	NM_080628		35515883	1	no_errors	ENST00000217320	ensembl	human	known	70_37	missense	SNP	0.908	G	G	35515883	C	G	35515883	3	3	21	1	0	0	0	0	1	0	0	0	2089	913	32	1	482	1	C20orf118	20	35515883	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5283211	35515883	27509637	277	3200										
PREX1	57580	genome.wustl.edu	37	chr20	47274692	47274692	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	acctcagccagcgagcccctCtggacggacttcaccaccac	8	19	3	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:47274692C>G	ENST00000371941.3	-	17	1978	c.1956G>C	c.(1954-1956)caG>caC	p.Q652H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q652H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	652	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGAGCCCCTCTGGACGGACT	0.652											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													280	263	269					20																	47274692		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1956G>C	20.37:g.47274692C>G	ENSP00000361009:p.Gln652His	945	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q652H	ENST00000371941.3	37	c.1956	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337994	0.24253	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.17528	2.27;2.27	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.341990	0.21930	U	0.067025	T	0.08403	0.0209	N	0.08118	0	0.28367	N	0.92019	B	0.32425	0.371	B	0.28784	0.094	T	0.10177	-1.0641	10	0.87932	D	0	.	8.3996	0.32579	0.0:0.7508:0.1592:0.09	.	652	Q8TCU6	PREX1_HUMAN	H	652	ENSP00000361009:Q652H;ENSP00000379522:Q652H	ENSP00000361009:Q652H	Q	-	3	2	PREX1	46708099	1.000000	0.71417	0.985000	0.45067	0.104000	0.19210	2.210000	0.42816	2.284000	0.76573	0.655000	0.94253	CAG	PREX1	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.652	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820		47274692	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.998	G	G	47274692	C	G	47274692	3	3	21	1	0	0	0	0	1	0	0	0	12503	912	32	1	3119	1	PREX1	20	47274692	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	11758809	47274692	15750828	278	3201										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47587889	47587889	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tgcacttgaaaatgcagataGaggtacggattccaaagttt	10	6	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:47587889G>C	ENST00000371917.4	+	10	1423	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	475					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATGCAGATAGAGGTACGGAT	0.313																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													83	76	78					20																	47587889		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1423G>C	20.37:g.47587889G>C	ENSP00000360985:p.Glu475Gln		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E475Q	ENST00000371917.4	37	c.1423	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558089	0.86231	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.59083	0.29	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75989	0.3925	M	0.86178	2.8	0.80722	D	1	D	0.53462	0.96	P	0.54924	0.764	T	0.78486	-0.2185	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	475	Q9Y6D5	BIG2_HUMAN	Q	475	ENSP00000360985:E475Q	ENSP00000360985:E475Q	E	+	1	0	ARFGEF2	47021296	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GAG	ARFGEF2	-	superfamily_ARM-type_fold		0.313	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47587889	1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47587889	G	C	47587889	3	2	21	1	0	0	0	0	1	0	0	0	853	943	33	1	1461	1	ARFGEF2	20	47587889	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	313197	47587889	15437631	279	3202										
C20orf106	200232	genome.wustl.edu	37	chr20	55099992	55099992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcaatacggagagcactttcGgattcggcagaatctaccag	11	10	1	2			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:55099992G>T	ENST00000371328.3	+	1	451	c.128G>T	c.(127-129)cGg>cTg	p.R43L	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	43						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GAGCACTTTCGGATTCGGCAG	0.507																																																	0													154	139	144					20																	55099992		2203	4300	6503	SO:0001583	missense	200232			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.128G>T	20.37:g.55099992G>T	ENSP00000360379:p.Arg43Leu		Q05C43	Missense_Mutation	SNP	NULL	p.R43L	ENST00000371328.3	37	c.128	CCDS33493.1	20	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344872	0.41498	.	.	ENSG00000124103	ENST00000371328	T	0.14266	2.52	5.51	5.51	0.81932	.	0.000000	0.45126	D	0.000383	T	0.33818	0.0876	M	0.64404	1.975	0.39081	D	0.960908	D	0.89917	1.0	D	0.91635	0.999	T	0.02391	-1.1166	10	0.33141	T	0.24	-31.6093	14.8926	0.70620	0.0:0.0:1.0:0.0	.	43	Q5JX71	CT106_HUMAN	L	43	ENSP00000360379:R43L	ENSP00000360379:R43L	R	+	2	0	C20orf106	54533399	0.928000	0.31464	0.898000	0.35279	0.022000	0.10575	4.302000	0.59092	2.577000	0.86979	0.467000	0.42956	CGG	FAM209A	-	NULL		0.507	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	HGNC	protein_coding	OTTHUMT00000079815.2	G			55099992	1	no_errors	ENST00000371328	ensembl	human	known	70_37	missense	SNP	0.966	T	T	55099992	G	T	55099992	3	4	21	1	0	0	0	0	1	0	0	0	2081	1116	39	2	130	2	C20orf106	20	55099992	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7512103	55099992	7925528	280	3203										
UCKL1	54963	genome.wustl.edu	37	chr20	62577046	62577046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aaggccatgatgccctcaaaGatgatgacgtttgcaccata	9	10	1	4			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr20:62577046G>C	ENST00000354216.6	-	5	654	c.612C>G	c.(610-612)atC>atG	p.I204M	UCKL1_ENST00000369908.5_Missense_Mutation_p.I189M|UCKL1_ENST00000358711.3_Missense_Mutation_p.I204M|UCKL1_ENST00000492660.1_5'Flank|UCKL1_ENST00000369892.3_Missense_Mutation_p.I204M|MIR647_ENST00000384823.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	204					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCCCTCAAAGATGATGACGT	0.602																																																	0													130	121	124					20																	62577046		2202	4299	6501	SO:0001583	missense	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.612C>G	20.37:g.62577046G>C	ENSP00000346155:p.Ile204Met		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.I204M	ENST00000354216.6	37	c.612	CCDS13547.1	20	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863570	0.71949	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.43	1.17	0.20885	Phosphoribulokinase/uridine kinase (1);	0.049303	0.85682	D	0.000000	T	0.80319	0.4601	H	0.95043	3.615	0.53688	D	0.999979	D;D	0.89917	1.0;0.999	D;D	0.80764	0.99;0.994	T	0.77851	-0.2434	9	0.87932	D	0	-37.6526	4.6325	0.12509	0.2509:0.0:0.4926:0.2565	.	189;204	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	M	204;204;204;189	.	ENSP00000346155:I204M	I	-	3	3	UCKL1	62047490	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.873000	0.28052	0.633000	0.30452	0.491000	0.48974	ATC	UCKL1	-	pfam_PRK/URK,prints_PRK,tigrfam_Uridine_kinase		0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	G	NM_017859		62577046	-1	no_errors	ENST00000354216	ensembl	human	known	70_37	missense	SNP	0.998	C	C	62577046	G	C	62577046	3	2	21	1	0	0	0	0	1	0	0	0	16956	932	33	1	1078	1	UCKL1	20	62577046	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7477054	62577046	448474	281	3204										
CRYZL1	9946	genome.wustl.edu	37	chr21	34969645	34969645	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	accaagaagtgtgatgatatCatgtttatgtggtagtagtt	11	3	1	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr21:34969645C>T	ENST00000381554.3	-	10	824	c.739G>A	c.(739-741)Gat>Aat	p.D247N	CRYZL1_ENST00000381540.3_Missense_Mutation_p.D247N|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000290244.5_Missense_Mutation_p.D232N|CRYZL1_ENST00000361534.2_Missense_Mutation_p.D271N	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	247					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GTGATGATATCATGTTTATGT	0.373																																																	0													229	214	219					21																	34969645		2203	4300	6503	SO:0001583	missense	9946			AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"quinone reductase-like 1"	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.739G>A	21.37:g.34969645C>T	ENSP00000370966:p.Asp247Asn		B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.D247N	ENST00000381554.3	37	c.739	CCDS13633.2	21	.	.	.	.	.	.	.	.	.	.	C	32	5.126671	0.94429	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534	T;T;T;T	0.15952	2.42;2.38;2.41;2.43	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.987;0.997	P;D	0.64042	0.906;0.921	T	0.34477	-0.9827	10	0.07990	T	0.79	-17.9061	18.807	0.92041	0.0:1.0:0.0:0.0	.	247;271	O95825;A6NHJ8	QORL1_HUMAN;.	N	247;232;247;271	ENSP00000370966:D247N;ENSP00000290244:D232N;ENSP00000370951:D247N;ENSP00000355075:D271N	ENSP00000290244:D232N	D	-	1	0	CRYZL1	33891515	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.104000	0.71498	2.591000	0.87537	0.650000	0.86243	GAT	CRYZL1	-	smart_PKS_ER		0.373	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZL1	HGNC	protein_coding	OTTHUMT00000141282.2	C	NM_145858		34969645	-1	no_errors	ENST00000381554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34969645	C	T	34969645	3	4	21	1	0	0	0	0	1	0	0	0	3928	826	29	1	326	1	CRYZL1	21	34969645	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		34969645	13160250	282	3205										
BRWD1	54014	genome.wustl.edu	37	chr21	40570985	40570985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aatctgcttcctctgagatgCtctctgccttaagtttctgc	7	12	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr21:40570985C>T	ENST00000333229.2	-	40	5684	c.5357G>A	c.(5356-5358)aGc>aAc	p.S1786N	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1786N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1786N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1786					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTCTGAGATGCTCTCTGCCTT	0.408																																					Melanoma(170;988 1986 4794 16843 39731)												0													110	110	110					21																	40570985		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5357G>A	21.37:g.40570985C>T	ENSP00000330753:p.Ser1786Asn		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S1786N	ENST00000333229.2	37	c.5357	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	8.130	0.782932	0.16189	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.55052	0.54;0.56;0.64	5.35	-0.256	0.12984	.	1.121610	0.06431	N	0.724108	T	0.34774	0.0909	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20438	-1.0275	10	0.18276	T	0.48	0.0382	8.6043	0.33764	0.0:0.5458:0.0:0.4542	.	1786;1786	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	1786	ENSP00000330753:S1786N;ENSP00000344333:S1786N;ENSP00000370178:S1786N	ENSP00000330753:S1786N	S	-	2	0	BRWD1	39492855	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	0.059000	0.14322	-0.025000	0.13918	-0.251000	0.11542	AGC	BRWD1	-	NULL		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40570985	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40570985	C	T	40570985	3	4	21	1	0	0	0	0	1	0	0	0	1528	797	28	4	1856	4	BRWD1	21	40570985	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	5601340	40570985	7558910	283	3206										
COL6A2	1292	genome.wustl.edu	37	chr21	47545731	47545731	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcgtggtgcagtacagccacGagggcacctttgaggccatc	14	12	0	1	rs138948335	byFrequency	TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr21:47545731G>C	ENST00000300527.4	+	26	2106	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	COL6A2_ENST00000357838.4_Missense_Mutation_p.E668Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.E668Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E668Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.E668Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	668	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTACAGCCACGAGGGCACCTT	0.647																																																	0													62	52	55					21																	47545731		2203	4300	6503	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2002G>C	21.37:g.47545731G>C	ENSP00000300527:p.Glu668Gln		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E668Q	ENST00000300527.4	37	c.2002	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738816	0.69304	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.273439	0.41712	D	0.000833	D	0.86493	0.5946	L	0.38531	1.155	0.46609	D	0.99912	D;P;P	0.76494	0.999;0.866;0.866	D;B;P	0.67103	0.949;0.416;0.496	D	0.87817	0.2635	10	0.54805	T	0.06	-26.5487	16.9942	0.86362	0.0:0.0:1.0:0.0	.	668;668;668	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	668;668;668;668;668;225	ENSP00000300527:E668Q;ENSP00000350497:E668Q;ENSP00000312529:E668Q;ENSP00000387115:E668Q;ENSP00000380870:E668Q;ENSP00000395751:E225Q	ENSP00000300527:E668Q	E	+	1	0	COL6A2	46370159	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.291000	0.78721	1.998000	0.58463	0.491000	0.48974	GAG	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	G			47545731	1	no_errors	ENST00000300527	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47545731	G	C	47545731	3	2	21	1	0	0	0	0	1	0	0	0	3705	1059	37	1	2100	1	COL6A2	21	47545731	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	6974746	47545731	584164	284	3207										
ASPHD2	57168	genome.wustl.edu	37	chr22	26830049	26830049	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	cgcgagcagggccggtacctCaacagccggccctccatcca	11	18	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:26830049C>G	ENST00000215906.5	+	2	906	c.468C>G	c.(466-468)ctC>ctG	p.L156L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	156					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCCGGTACCTCAACAGCCGGC	0.627																																																	0													31	31	31					22																	26830049		2203	4300	6503	SO:0001819	synonymous_variant	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.468C>G	22.37:g.26830049C>G			B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.L156	ENST00000215906.5	37	c.468	CCDS13834.2	22																																																																																			ASPHD2	-	NULL		0.627	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	C	NM_020437		26830049	1	no_errors	ENST00000215906	ensembl	human	known	70_37	silent	SNP	1.000	G	G	26830049	C	G	26830049	2	3	21	1	0	0	0	0	0	0	0	1	1056	813	29	1		1	ASPHD2	22	26830049	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08		26830049	24474517	285	3208										
PATZ1	23598	genome.wustl.edu	37	chr22	31740573	31740573	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gggggccgtcggggtcttcaGagatgggtagcccattctca	16	10	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:31740573G>C	ENST00000266269.5	-	1	1645	c.1016C>G	c.(1015-1017)tCt>tGt	p.S339C	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.S339C|PATZ1_ENST00000351933.4_Missense_Mutation_p.S339C|PATZ1_ENST00000215919.3_Missense_Mutation_p.S339C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	339					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGGGTCTTCAGAGATGGGTAG	0.622																																																	0													48	49	49					22																	31740573		2203	4300	6503	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1016C>G	22.37:g.31740573G>C	ENSP00000266269:p.Ser339Cys		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S339C	ENST00000266269.5	37	c.1016	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950573	0.53186	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.11604	2.81;2.76;2.82;2.98	4.78	4.78	0.61160	.	0.610036	0.17176	N	0.184092	T	0.09113	0.0225	N	0.08118	0	0.29959	N	0.819609	B;P;P;P	0.42620	0.0;0.589;0.731;0.785	B;B;B;P	0.47162	0.001;0.416;0.39;0.54	T	0.04128	-1.0975	10	0.87932	D	0	-8.0989	10.8711	0.46883	0.0:0.0:0.6954:0.3046	.	339;339;339;339	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	C	339	ENSP00000266269:S339C;ENSP00000384173:S339C;ENSP00000337520:S339C;ENSP00000215919:S339C	ENSP00000215919:S339C	S	-	2	0	PATZ1	30070573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.160000	0.64929	2.211000	0.71520	0.561000	0.74099	TCT	PATZ1	-	NULL		0.622	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	G	NM_032052		31740573	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	missense	SNP	0.996	C	C	31740573	G	C	31740573	3	2	21	1	0	0	0	0	1	0	0	0	11500	942	33	1	1350	1	PATZ1	22	31740573	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	4910524	31740573	19563993	286	3209										
RBM9	23543	genome.wustl.edu	37	chr22	36155971	36155971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	tggctgttggaggtaccgctCggactgcaccatatactgtc	12	11	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:36155971C>T	ENST00000438146.2	-	10	1072	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	RBFOX2_ENST00000405409.2_Missense_Mutation_p.R284Q|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R287Q|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R265Q|RBFOX2_ENST00000397303.2_Missense_Mutation_p.R264Q|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R287Q|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R263Q|RBFOX2_ENST00000416721.2_Missense_Mutation_p.R283Q	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	297	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						AGGTACCGCTCGGACTGCACC	0.517																																																	0													78	76	77					22																	36155971		2203	4300	6503	SO:0001583	missense	23543			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.1073G>A	22.37:g.36155971C>T	ENSP00000413035:p.Arg358Gln		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R358Q	ENST00000438146.2	37	c.1073	CCDS43013.1	22	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047516	0.93740	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146	T;T;T;T;T;T;T	0.55413	1.24;0.96;0.55;0.9;1.22;0.89;0.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.68952	2.095	0.51482	D	0.999921	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.996;0.99;0.996;0.986;0.99;0.983;0.959;0.983;0.966	T	0.74982	-0.3478	10	0.87932	D	0	.	19.3581	0.94422	0.0:1.0:0.0:0.0	.	263;357;358;265;283;284;287;287;264	B0QYY4;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;.;.;.;.;.;.;.;.	Q	284;293;287;287;265;264;263;283;358	ENSP00000384944:R284Q;ENSP00000407855:R287Q;ENSP00000391670:R287Q;ENSP00000380470:R264Q;ENSP00000352328:R263Q;ENSP00000405651:R283Q;ENSP00000413035:R358Q	ENSP00000262829:R265Q	R	-	2	0	RBFOX2	34485917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.594000	0.82698	2.581000	0.87130	0.563000	0.77884	CGA	RBFOX2	-	pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1		0.517	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	RBFOX2	HGNC	protein_coding	OTTHUMT00000319299.3	C			36155971	-1	no_errors	ENST00000438146	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36155971	C	T	36155971	3	4	21	1	0	0	0	0	1	0	0	0	13177	884	31	1	312	1	RBM9	22	36155971	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	4415398	36155971	15148595	287	3210										
MYH9	4627	genome.wustl.edu	37	chr22	36684327	36684327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ccgcagctgtttgatggcttCgtcccggttcttgttggccg	13	12	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:36684327C>T	ENST00000216181.5	-	34	5133	c.4903G>A	c.(4903-4905)Gaa>Aaa	p.E1635K	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1635					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGATGGCTTCGTCCCGGTTC	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													117	103	108					22																	36684327		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4903G>A	22.37:g.36684327C>T	ENSP00000216181:p.Glu1635Lys		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1635K	ENST00000216181.5	37	c.4903	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663313	0.88251	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.81247	-1.47	5.5	5.5	0.81552	Myosin tail (1);	0.050812	0.85682	D	0.000000	D	0.89319	0.6681	M	0.93197	3.39	0.80722	D	1	D	0.57257	0.979	P	0.48738	0.588	D	0.92052	0.5649	10	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1635	P35579	MYH9_HUMAN	K	1057;237;1635	ENSP00000216181:E1635K	ENSP00000216181:E1635K	E	-	1	0	MYH9	35014273	1.000000	0.71417	0.501000	0.27601	0.118000	0.20060	7.776000	0.85560	2.735000	0.93741	0.655000	0.94253	GAA	MYH9	-	pfam_Myosin_tail,superfamily_tRNA-bd_arm		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36684327	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	0.998	T	T	36684327	C	T	36684327	3	4	21	1	0	0	0	0	1	0	0	0	10065	893	31	1	1011	1	MYH9	22	36684327	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	528356	36684327	14620239	288	3211										
SGSM3	57591	genome.wustl.edu	37	chr22	40804696	40804697	+	IGR	INS	-	-	T													0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtctggtgctctgtaagaccINSttcaggtaactcggcccggg							TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:40804696_40804697insT	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Frame_Shift_Ins_p.F617fs|SGSM3_ENST00000454798.2_Frame_Shift_Ins_p.F550fs	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCTGTAAGACCTTCAGGTAACT	0.649			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0																																										SO:0001628	intergenic_variant	27352			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804698_40804698dupT			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.R617fs	ENST00000355630.3	37	c.1848_1849	CCDS14003.1	22																																																																																			SGSM3	-	pfam_Run,pfscan_Run		0.649	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321522.1	-	NM_020831		40804697	1	no_errors	ENST00000248929	ensembl	human	known	70_37	frame_shift_ins	INS	0.300:0.997	T	T	40804697	-	T	40804696	6	5	21	0	1	1	1	0	0	0	0	0	14254	668	24	0		0	SGSM3	22	40804696	IGR	INS	-	TCGA-C5-A1MH-01A-11D-A14W-08	4120369	40804696	10499870	289	3212										
EP300	2033	genome.wustl.edu	37	chr22	41525927	41525927	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	atcttctcgacaaatcatttCacactggaagaattgtacaa	5	9	4	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:41525927C>G	ENST00000263253.7	+	5	2421	c.1202C>G	c.(1201-1203)tCa>tGa	p.S401*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	401					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAATCATTTCACACTGGAAG	0.358			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													125	113	117					22																	41525927		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1202C>G	22.37:g.41525927C>G	ENSP00000263253:p.Ser401*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S401*	ENST00000263253.7	37	c.1202	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	49	15.345542	0.99831	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.6	5.6	0.85130	.	0.000000	0.41938	D	0.000790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.1837	19.9823	0.97331	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000263253:S401X	S	+	2	0	EP300	39855873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	TCA	EP300	-	pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ		0.358	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41525927	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	41525927	C	G	41525927	4	3	21	1	0	0	0	0	0	1	0	0	5160	838	29	1	1220	1	EP300	22	41525927	Nonsense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	721231	41525927	9778639	290	3213										
TCF20	6942	genome.wustl.edu	37	chr22	42607402	42607402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agacttgatatcctgactgtGagaaagatgggcataggaat	12	5	0	5			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:42607402G>A	ENST00000359486.3	-	1	4046	c.3910C>T	c.(3910-3912)Cac>Tac	p.H1304Y	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.H1304Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCCTGACTGTGAGAAAGATGG	0.453																																																	0													199	186	190					22																	42607402		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3910C>T	22.37:g.42607402G>A	ENSP00000352463:p.His1304Tyr		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.H1304Y	ENST00000359486.3	37	c.3910	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967288	0.34754	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.58210	0.35;0.35	5.53	5.53	0.82687	.	0.174129	0.40818	N	0.001017	T	0.42337	0.1198	L	0.29908	0.895	0.80722	D	1	P;P	0.47604	0.898;0.837	B;B	0.41332	0.354;0.193	T	0.31364	-0.9946	10	0.40728	T	0.16	-19.3179	14.4883	0.67631	0.0:0.0:0.8533:0.1466	.	1304;1304	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	1304	ENSP00000352463:H1304Y;ENSP00000335561:H1304Y	ENSP00000335561:H1304Y	H	-	1	0	TCF20	40937346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.438000	0.59961	2.882000	0.98803	0.655000	0.94253	CAC	TCF20	-	NULL		0.453	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	G	NM_181492		42607402	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42607402	G	A	42607402	3	1	21	1	0	0	0	0	1	0	0	0	15720	1290	45	1	2010	1	TCF20	22	42607402	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1081475	42607402	8697164	291	3214										
MOV10L1	54456	genome.wustl.edu	37	chr22	50564699	50564699	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	aatacatcagctacgtgactGaggtgagagcactctctctt	9	10	3	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chr22:50564699G>C	ENST00000262794.5	+	12	1899	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E586Q|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E606Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E606Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	606					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTACGTGACTGAGGTGAGAGC	0.423																																																	0													113	93	100					22																	50564699		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1816G>C	22.37:g.50564699G>C	ENSP00000262794:p.Glu606Gln		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E606Q	ENST00000262794.5	37	c.1816	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510773	0.64522	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.86164	-1.89;-1.89;-1.48;-2.08	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	M	0.78049	2.395	0.80722	D	1	D;P;P;P	0.69078	0.997;0.951;0.864;0.864	P;P;B;B	0.57468	0.821;0.604;0.327;0.327	D	0.92114	0.5698	10	0.52906	T	0.07	-39.0063	16.6126	0.84892	0.0:0.0:1.0:0.0	.	367;586;606;606	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	Q	606;606;606;586	ENSP00000438978:E606Q;ENSP00000262794:E606Q;ENSP00000379199:E606Q;ENSP00000438542:E586Q	ENSP00000262794:E606Q	E	+	1	0	MOV10L1	48906826	1.000000	0.71417	0.963000	0.40424	0.747000	0.42532	4.278000	0.58946	2.644000	0.89710	0.655000	0.94253	GAG	MOV10L1	-	NULL		0.423	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50564699	1	no_errors	ENST00000262794	ensembl	human	known	70_37	missense	SNP	0.990	C	C	50564699	G	C	50564699	3	2	21	1	0	0	0	0	1	0	0	0	9742	1291	45	1	1903	1	MOV10L1	22	50564699	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	7957297	50564699	739867	292	3215										
ZNF157	7712	genome.wustl.edu	37	chrX	47269681	47269681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gattgttattacaggggtccGtgtcattcgaggatgtggct	14	6	1	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:47269681G>A	ENST00000377073.3	+	2	165	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACAGGGGTCCGTGTCATTCGA	0.483																																																	0													143	123	130					X																	47269681		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.79G>A	X.37:g.47269681G>A	ENSP00000366273:p.Val27Met		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V27M	ENST00000377073.3	37	c.79	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297796	0.23650	.	.	ENSG00000147117	ENST00000377073	T	0.05925	3.37	3.27	2.37	0.29283	Krueppel-associated box (4);	.	.	.	.	T	0.14013	0.0339	L	0.54908	1.71	0.23940	N	0.996402	D	0.69078	0.997	P	0.61477	0.889	T	0.10870	-1.0611	9	0.56958	D	0.05	.	5.2176	0.15352	0.0:0.2286:0.5334:0.2381	.	27	P51786	ZN157_HUMAN	M	27	ENSP00000366273:V27M	ENSP00000366273:V27M	V	+	1	0	ZNF157	47154625	0.945000	0.32115	0.307000	0.25127	0.484000	0.33280	1.410000	0.34691	0.738000	0.32606	0.423000	0.28283	GTG	ZNF157	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47269681	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.377	A	A	47269681	G	A	47269681	3	1	21	1	0	0	0	0	1	0	0	0	17767	1145	40	2	85	2	ZNF157	23	47269681	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08		47269681	108000879	293	3216										
SMC1A	8243	genome.wustl.edu	37	chrX	53430514	53430514	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ctaccgcttcttggcgatttCattctgccgtttcacctttt	6	13	4	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:53430514C>T	ENST00000322213.4	-	15	2531	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	802					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGGCGATTTCATTCTGCCGT	0.493																																																	0													180	147	158					X																	53430514		2203	4300	6503	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2404G>A	X.37:g.53430514C>T	ENSP00000323421:p.Glu802Lys		O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.E802K	ENST00000322213.4	37	c.2404	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023999	0.93462	.	.	ENSG00000072501	ENST00000322213	T	0.79554	-1.28	4.58	4.58	0.56647	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.90120	0.4198	10	0.87932	D	0	.	15.6293	0.76888	0.0:1.0:0.0:0.0	.	780;802	Q6MZR8;Q14683	.;SMC1A_HUMAN	K	802	ENSP00000323421:E802K	ENSP00000323421:E802K	E	-	1	0	SMC1A	53447239	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.316000	0.79007	2.290000	0.77057	0.523000	0.50628	GAA	SMC1A	-	pfam_RecF/RecN/SMC		0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	C	NM_006306		53430514	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53430514	C	T	53430514	3	4	21	1	0	0	0	0	1	0	0	0	14811	835	29	1	1341	1	SMC1A	23	53430514	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	6160833	53430514	101840046	294	3217										
HUWE1	10075	genome.wustl.edu	37	chrX	53589843	53589843	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gctgaggttggaaggagcttCatccatcagcacgtcctctt	11	11	3	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:53589843C>T	ENST00000342160.3	-	52	7610	c.7153G>A	c.(7153-7155)Gaa>Aaa	p.E2385K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2385K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2385	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGGAGCTTCATCCATCAGC	0.547																																																	0													219	146	171					X																	53589843		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7153G>A	X.37:g.53589843C>T	ENSP00000340648:p.Glu2385Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2385K	ENST00000342160.3	37	c.7153	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656278	0.67586	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.44083	0.93;0.93	5.89	5.89	0.94794	.	0.055894	0.64402	D	0.000001	T	0.42765	0.1217	N	0.19112	0.55	0.58432	D	0.999995	D;D	0.56968	0.963;0.978	P;P	0.53062	0.525;0.717	T	0.22941	-1.0202	10	0.33940	T	0.23	.	17.7712	0.88493	0.0:1.0:0.0:0.0	.	2385;2385	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	2385	ENSP00000340648:E2385K;ENSP00000262854:E2385K	ENSP00000262854:E2385K	E	-	1	0	HUWE1	53606568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.140000	0.77322	2.470000	0.83445	0.600000	0.82982	GAA	HUWE1	-	NULL		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53589843	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53589843	C	T	53589843	3	4	21	1	0	0	0	0	1	0	0	0	7481	835	29	1	6099	1	HUWE1	23	53589843	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	159329	53589843	101680717	295	3218										
ARHGEF9	23229	genome.wustl.edu	37	chrX	62863882	62863882	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	ttttgcttagggacttttctCacagtcattgcagcctgcct	8	11	2	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:62863882C>T	ENST00000253401.6	-	9	2147	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	ARHGEF9_ENST00000374878.1_Silent_p.V447V|ARHGEF9_ENST00000433323.2_Silent_p.V176V|ARHGEF9_ENST00000374870.4_Silent_p.V347V|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Silent_p.V428V|ARHGEF9_ENST00000437457.2_Silent_p.V396V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	449					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGACTTTTCTCACAGTCATTG	0.373																																																	0													154	131	139					X																	62863882		2203	4300	6503	SO:0001819	synonymous_variant	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1347G>A	X.37:g.62863882C>T			A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V449	ENST00000253401.6	37	c.1347	CCDS35315.1	X																																																																																			ARHGEF9	-	NULL		0.373	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	C			62863882	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62863882	C	T	62863882	2	4	21	1	0	0	0	0	0	0	0	1	912	813	29	1		1	ARHGEF9	23	62863882	Silent	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	9274039	62863882	92406678	296	3219										
BRWD3	254065	genome.wustl.edu	37	chrX	79999553	79999553	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gtatggaagtaatagaagctGaatggccctgaaggactgca	13	6	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:79999553G>A	ENST00000373275.4	-	8	1007	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	264					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATAGAAGCTGAATGGCCCTG	0.378																																																	0													104	91	95					X																	79999553		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.791C>T	X.37:g.79999553G>A	ENSP00000362372:p.Ser264Leu		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S264L	ENST00000373275.4	37	c.791	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195477	0.58126	.	.	ENSG00000165288	ENST00000373275	T	0.61510	0.1	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.562926	0.16371	N	0.217301	T	0.48822	0.1521	L	0.33485	1.01	0.40019	D	0.975381	B	0.17038	0.02	B	0.23852	0.049	T	0.41752	-0.9491	9	.	.	.	-8.2318	16.6563	0.85229	0.0:0.0:1.0:0.0	.	264	Q6RI45	BRWD3_HUMAN	L	264	ENSP00000362372:S264L	.	S	-	2	0	BRWD3	79886209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.535000	0.73838	2.193000	0.70182	0.415000	0.27848	TCA	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79999553	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79999553	G	A	79999553	3	1	21	1	0	0	0	0	1	0	0	0	1529	1294	45	1	4753	1	BRWD3	23	79999553	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	17135671	79999553	75271007	297	3220										
COL4A6	1288	genome.wustl.edu	37	chrX	107408146	107408146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	agggaggccagaaaaacctgGaattccttggtctcccttag	11	10	1	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:107408146G>A	ENST00000372216.4	-	39	4034	c.3934C>T	c.(3934-3936)Cca>Tca	p.P1312S	COL4A6_ENST00000545689.1_Missense_Mutation_p.P1287S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1312S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1311S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1287S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1312	Triple-helical region.			Missing (in Ref. 1; BAA04809). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GAAAAACCTGGAATTCCTTGG	0.622									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													47	45	46					X																	107408146		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3934C>T	X.37:g.107408146G>A	ENSP00000361290:p.Pro1312Ser		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1312S	ENST00000372216.4	37	c.3934	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299458	0.40694	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-3.32	4.46	3.59	0.41128	.	0.000000	0.37437	N	0.002081	D	0.98099	0.9373	M	0.71581	2.175	0.28778	N	0.899981	D;B;D;P	0.56287	0.975;0.041;0.959;0.949	P;B;P;P	0.53861	0.736;0.018;0.626;0.492	D	0.95241	0.8351	10	0.48119	T	0.1	.	8.3459	0.32272	0.0897:0.0:0.7471:0.1632	.	1287;1287;1312;1311	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	1312;1311;1312;1299;1287;1287	ENSP00000361290:P1312S;ENSP00000334733:P1311S;ENSP00000378340:P1312S;ENSP00000443707:P1287S;ENSP00000445236:P1287S	ENSP00000334733:P1311S	P	-	1	0	COL4A6	107294802	0.988000	0.35896	0.999000	0.59377	0.987000	0.75469	1.998000	0.40796	0.962000	0.38057	0.544000	0.68410	CCA	COL4A6	-	pfam_Collagen		0.622	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	G			107408146	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.607	A	A	107408146	G	A	107408146	3	1	21	1	0	0	0	0	1	0	0	0	3700	1174	41	1	1169	1	COL4A6	23	107408146	Missense_Mutation	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	27408593	107408146	47862414	298	3221										
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299852	125299852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gcgacgacgagctcccggctCccgcctcgaccgcgggcgct	14	19	0	0			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:125299852C>T	ENST00000360028.2	-	1	82	c.56G>A	c.(55-57)gGa>gAa	p.G19E	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G19E			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	19										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCTCCCGGCTCCCGCCTCGAC	0.731																																																	0													11	13	12					X																	125299852		1878	3755	5633	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.56G>A	X.37:g.125299852C>T	ENSP00000353128:p.Gly19Glu		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G19E	ENST00000360028.2	37	c.56	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	c	11.41	1.630345	0.28978	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.19394	2.15;2.15	2.77	-0.463	0.12164	.	.	.	.	.	T	0.21103	0.0508	L	0.53249	1.67	0.09310	N	1	B	0.20052	0.041	B	0.26517	0.07	T	0.30357	-0.9981	9	0.48119	T	0.1	.	10.0715	0.42337	0.0:0.3339:0.6661:0.0	.	19	Q5VW00	DC122_HUMAN	E	19	ENSP00000441489:G19E;ENSP00000353128:G19E	ENSP00000353128:G19E	G	-	2	0	DCAF12L2	125127533	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	0.518000	0.22847	-0.211000	0.10124	0.287000	0.19450	GGA	DCAF12L2	-	NULL		0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	C	NM_001013628		125299852	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.000	T	T	125299852	C	T	125299852	3	4	21	1	0	0	0	0	1	0	0	0	4270	855	30	1	1339	1	DCAF12L2	23	125299852	Missense_Mutation	SNP	C	TCGA-C5-A1MH-01A-11D-A14W-08	17891706	125299852	29970708	299	3222										
MAGEA3	4102	genome.wustl.edu	37	chrX	151935841	151935841	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	actcggccaccttcctactgAgtgctgcttggaactcggac	10	14	0	1			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:151935841A>T	ENST00000393902.3	-	3	893	c.326T>A	c.(325-327)cTc>cAc	p.L109H	MAGEA3_ENST00000370278.3_Missense_Mutation_p.L109H			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	109	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTACTGAGTGCTGCTTG	0.552																																																	0													146	132	137					X																	151935841		2202	4291	6493	SO:0001583	missense	4102				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.326T>A	X.37:g.151935841A>T	ENSP00000377480:p.Leu109His		Q6FHI6	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L109H	ENST00000393902.3	37	c.326	CCDS14715.1	X	.	.	.	.	.	.	.	.	.	.	a	11.57	1.677557	0.29783	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.04015	4.18;4.18;3.73	1.42	1.42	0.22433	.	0.695485	0.13118	N	0.412450	T	0.23054	0.0557	H	0.95780	3.72	0.09310	N	1	D	0.71674	0.998	D	0.63033	0.91	T	0.06716	-1.0811	10	0.87932	D	0	.	4.542	0.12061	1.0:0.0:0.0:0.0	.	109	P43357	MAGA3_HUMAN	H	109	ENSP00000359301:L109H;ENSP00000377480:L109H;ENSP00000392758:L109H	ENSP00000359301:L109H	L	-	2	0	MAGEA3	151686497	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	0.818000	0.34468	0.293000	0.19593	CTC	MAGEA3	-	pfscan_MAGE		0.552	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA3	HGNC	protein_coding	OTTHUMT00000058744.1	A	NM_005362		151935841	-1	no_errors	ENST00000370278	ensembl	human	known	70_37	missense	SNP	0.000	T	T	151935841	A	T	151935841	3	4	21	1	0	0	0	0	1	0	0	0	9190	304	11	5	622	5	MAGEA3	23	151935841	Missense_Mutation	SNP	A	TCGA-C5-A1MH-01A-11D-A14W-08	26635989	151935841	3334719	300	3223										
G6PD	2539	genome.wustl.edu	37	chrX	153763457	153763457	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.528239202657807	159	4.3282781156244e-57	3.92050718195855	4.8759168518124	3.32409993350432	0.512147391077635	0.735974769400453	118	gggggcaaggccaggtagaaGaggcggttggcctgtgaccc	19	9	0	3			TCGA-C5-A1MH-01A-11D-A14W-08	TCGA-C5-A1MH-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f26c7e5f-b991-454c-81c6-ceadfb6d0270	d41f3de8-9eab-4d20-b390-fd0bce1a1afd	g.chrX:153763457G>T	ENST00000393564.2	-	5	523	c.411C>A	c.(409-411)ctC>ctA	p.L137L	G6PD_ENST00000369620.2_Silent_p.L137L|G6PD_ENST00000393562.2_Silent_p.L167L|G6PD_ENST00000497281.1_5'UTR	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	137					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGTAGAAGAGGCGGTTGG	0.602																																																	0													126	98	108					X																	153763457		2203	4300	6503	SO:0001819	synonymous_variant	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.411C>A	X.37:g.153763457G>T			D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH	p.L137	ENST00000393564.2	37	c.411	CCDS44023.1	X																																																																																			G6PD	-	pfam_G6P_DH_NAD-bd,pirsf_G6P_DH		0.602	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	HGNC	protein_coding	OTTHUMT00000061170.3	G	NM_000402		153763457	-1	no_errors	ENST00000369620	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153763457	G	T	153763457	2	4	21	1	0	0	0	0	0	0	0	1	6164	929	33	3		3	G6PD	23	153763457	Silent	SNP	G	TCGA-C5-A1MH-01A-11D-A14W-08	1827616	153763457	1507103	301	3224										
KIAA1751	85452	genome.wustl.edu	37	chr1	1896464	1896464	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gtccttgtccatctttgtccCgcccacgggctttcggtcca	9	16	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:1896464C>A								TMEM52 (45752 upstream) : C1orf222 (23098 downstream)														p.G480R(1)									ATCTTTGTCCCGCCCACGGGC	0.677																																																	1	Substitution - Missense(1)	pancreas(1)											41	43	42					1																	1896464		2022	4183	6205	SO:0001628	intergenic_variant	85452																															1.37:g.1896464C>A				Missense_Mutation	SNP	NULL	p.G480W		37	c.1438		1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.849069	0.51270	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	4.48	0.54585	.	0.335703	0.28176	N	0.016309	T	0.77471	0.4135	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.79669	-0.1707	9	0.56958	D	0.05	-43.4162	15.0164	0.71588	0.0:1.0:0.0:0.0	.	480;480	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	W	480	.	ENSP00000270720:G480W	G	-	1	0	C1orf222	1886324	0.003000	0.15002	0.731000	0.30826	0.299000	0.27559	1.059000	0.30517	2.203000	0.70933	0.556000	0.70494	GGG	C1orf222	-	NULL	0	0.677					C1orf222	HGNC			C			1896464	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.949	A	A	1896464	C	A	1896464	1	1	22	0	1	0	0	0	0	0	0	0	8276	652	23	2		2	KIAA1751	1	1896464	IGR	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		1896464	247354157	1	3225										
MMEL1	79258	genome.wustl.edu	37	chr1	2538416	2538416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccaggcccggccttacctaCggtctcgttccacctgtcca	9	18	1	0	rs374379604		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:2538416C>T	ENST00000378412.3	-	7	789	c.628G>A	c.(628-630)Gta>Ata	p.V210I	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.V201I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	210						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCCTTACCTACGGTCTCGTTC	0.642																																																	0									ILE/VAL	0,4406		0,0,2203	79	74	76		628	-7.3	0	1		76	1,8599		0,1,4299	no	missense	MMEL1	NM_033467.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	210/780	2538416	1,13005	2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.628G>A	1.37:g.2538416C>T	ENSP00000367668:p.Val210Ile		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V210I	ENST00000378412.3	37	c.628	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	N	10.24	1.296796	0.23650	0.0	1.16E-4	ENSG00000142606	ENST00000288709;ENST00000378412	D;D	0.81739	-1.53;-1.53	4.71	-7.26	0.01466	Peptidase M13 (1);	0.983219	0.08353	N	0.958902	T	0.64638	0.2616	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47407	-0.9120	10	0.29301	T	0.29	.	7.501	0.27518	0.0:0.3905:0.1165:0.4929	.	210	Q495T6	MMEL1_HUMAN	I	201;210	ENSP00000288709:V201I;ENSP00000367668:V210I	ENSP00000288709:V201I	V	-	1	0	MMEL1	2528276	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.764000	0.04735	-1.750000	0.01328	-1.830000	0.00593	GTA	MMEL1	-	pfam_Peptidase_M13_N		0.642	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2538416	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2538416	C	T	2538416	3	4	22	1	0	0	0	0	1	0	0	0	9669	536	19	2	1783	2	MMEL1	1	2538416	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	641952	2538416	246712205	2	3226										
ESPN	83715	genome.wustl.edu	37	chr1	6500365	6500365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	acgcccctgtacctggcgtgCcaggagggccacctggaggt	15	14	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:6500365C>T	ENST00000377828.1	+	3	708	c.540C>T	c.(538-540)tgC>tgT	p.C180C	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	180					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGCGTGCCAGGAGGGCC	0.706																																																	0													9	10	10					1																	6500365		2149	4230	6379	SO:0001819	synonymous_variant	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.540C>T	1.37:g.6500365C>T			Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.C180	ENST00000377828.1	37	c.540	CCDS70.1	1																																																																																			ESPN	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.706	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	C	NM_031475		6500365	1	no_errors	ENST00000377828	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6500365	C	T	6500365	2	4	22	1	0	0	0	0	0	0	0	1	5266	747	26	4		4	ESPN	1	6500365	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	3961949	6500365	242750256	3	3227										
PLEKHG5	57449	genome.wustl.edu	37	chr1	6534167	6534167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gcagaatcggcaaactcaggGacttggagtccttcatgccc	11	12	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:6534167G>T	ENST00000400915.3	-	8	731	c.665C>A	c.(664-666)tCc>tAc	p.S222Y	PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.S243Y|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S245Y|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S203Y|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.S243Y|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S235Y|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S166Y	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	222					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAAACTCAGGGACTTGGAGTC	0.667																																																	0													33	34	34					1																	6534167		2203	4300	6503	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.665C>A	1.37:g.6534167G>T	ENSP00000383706:p.Ser222Tyr		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S245Y	ENST00000400915.3	37	c.734	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	g	18.90	3.721046	0.68959	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.89;-0.88;-0.88;-0.91;-0.71;-0.91;-0.88;-0.88;-0.94;-0.88;-0.9;-0.88	4.07	2.06	0.26882	.	0.246394	0.34435	N	0.003969	T	0.79070	0.4384	L	0.59436	1.845	0.49051	D	0.999747	P;B;P;P;P	0.51791	0.948;0.34;0.913;0.948;0.913	P;B;P;P;P	0.56823	0.807;0.28;0.494;0.807;0.646	T	0.78645	-0.2123	10	0.59425	D	0.04	-16.2436	12.4055	0.55436	0.0:0.3247:0.6753:0.0	.	235;166;243;243;222	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	Y	243;166;166;222;243;203;166;166;235;166;72;245;166	ENSP00000366977:S243Y;ENSP00000344570:S166Y;ENSP00000383704:S166Y;ENSP00000383706:S222Y;ENSP00000366969:S243Y;ENSP00000366961:S203Y;ENSP00000366957:S166Y;ENSP00000366954:S166Y;ENSP00000441445:S235Y;ENSP00000366966:S166Y;ENSP00000439625:S245Y;ENSP00000437710:S166Y	ENSP00000344570:S166Y	S	-	2	0	PLEKHG5	6456754	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	5.512000	0.67030	0.319000	0.23209	0.500000	0.49745	TCC	PLEKHG5	-	NULL		0.667	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	G	NM_020631		6534167	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	0.993	T	T	6534167	G	T	6534167	3	4	22	1	0	0	0	0	1	0	0	0	12097	1174	41	3	2583	3	PLEKHG5	1	6534167	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	33802	6534167	242716454	4	3228										
PER3	8863	genome.wustl.edu	37	chr1	7880694	7880694	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ttgtccatgtcccacccccaGagacaggtaccacactcgcc	7	18	0	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:7880694G>A	ENST00000361923.2	+	15	2102	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	PER3_ENST00000377532.3_Missense_Mutation_p.E651K|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	643	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCCCCAGAGACAGGTAC	0.488																																																	0													67	58	61					1																	7880694		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1927G>A	1.37:g.7880694G>A	ENSP00000355031:p.Glu643Lys		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E643K	ENST00000361923.2	37	c.1927	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056660	0.55325	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.13778	2.56;2.68	4.43	3.46	0.39613	.	0.056191	0.64402	D	0.000002	T	0.34774	0.0909	M	0.79926	2.475	0.40675	D	0.98225	P;D;D;P	0.67145	0.92;0.994;0.996;0.92	B;P;D;B	0.64776	0.386;0.851;0.929;0.386	T	0.18999	-1.0319	10	0.36615	T	0.2	.	12.9639	0.58473	0.0:0.2247:0.7753:0.0	.	643;651;651;643	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	K	651;643	ENSP00000366755:E651K;ENSP00000355031:E643K	ENSP00000355031:E643K	E	+	1	0	PER3	7803281	1.000000	0.71417	0.020000	0.16555	0.014000	0.08584	4.371000	0.59523	0.952000	0.37798	0.561000	0.74099	GAG	PER3	-	NULL		0.488	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7880694	1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.920	A	A	7880694	G	A	7880694	3	1	22	1	0	0	0	0	1	0	0	0	11755	943	33	1	1985	1	PER3	1	7880694	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	1346527	7880694	241369927	5	3229										
UBR4	23352	genome.wustl.edu	37	chr1	19483350	19483350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aactggggcagaagccaagcGggtcagagttaacttccttt	12	9	1	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:19483350G>A	ENST00000375254.3	-	41	5857	c.5830C>T	c.(5830-5832)Cgc>Tgc	p.R1944C	UBR4_ENST00000375217.2_Missense_Mutation_p.R1944C|UBR4_ENST00000375226.2_Missense_Mutation_p.R1944C|UBR4_ENST00000375267.2_Missense_Mutation_p.R1944C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1944					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAGCCAAGCGGGTCAGAGTT	0.473																																																	0													79	72	74					1																	19483350		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5830C>T	1.37:g.19483350G>A	ENSP00000364403:p.Arg1944Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1944C	ENST00000375254.3	37	c.5830	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.208934	0.95069	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;3.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.37641	-0.9697	10	0.87932	D	0	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	1944	Q5T4S7	UBR4_HUMAN	C	1944;1944;1944;1944;654;1160	ENSP00000364403:R1944C;ENSP00000364416:R1944C;ENSP00000364365:R1944C;ENSP00000364374:R1944C;ENSP00000404897:R654C	ENSP00000364365:R1944C	R	-	1	0	UBR4	19355937	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.238000	0.95380	2.709000	0.92574	0.491000	0.48974	CGC	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19483350	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19483350	G	A	19483350	3	1	22	1	0	0	0	0	1	0	0	0	16935	1116	39	2	9985	2	UBR4	1	19483350	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	11602656	19483350	229767271	6	3230										
ARID1A	8289	genome.wustl.edu	37	chr1	27100375	27100375	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccagcagactacaatgtatCaacagcaacagcaggtgagg	11	10	1	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:27100375C>T	ENST00000324856.7	+	17	4458	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q980*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1363*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1363	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAATGTATCAACAGCAACA	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													130	135	134					1																	27100375		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4087C>T	1.37:g.27100375C>T	ENSP00000320485:p.Gln1363*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1363*	ENST00000324856.7	37	c.4087	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.611532|9.611532	0.99219|0.99219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76550	.|0.4003	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74512	.|-0.3641	.|4	0.32370|.	T|.	0.25|.	.|.	19.7727|19.7727	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1363;1363;980|259	.|.	ENSP00000320485:Q1363X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26972962|26972962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	4.561000|4.561000	0.60809|0.60809	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	CAA|TCA	ARID1A	-	NULL		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27100375	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27100375	C	T	27100375	4	4	22	1	0	0	0	0	0	1	0	0	913	827	29	1	4153	1	ARID1A	1	27100375	Nonsense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	7617025	27100375	222150246	7	3231										
LPHN2	23266	genome.wustl.edu	37	chr1	82433881	82433881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tcatggcccacagggaaattGcagtaagtatttgcacttct	9	9	2	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:82433881G>T	ENST00000370728.1	+	16	3154	c.2509G>T	c.(2509-2511)Gca>Tca	p.A837S	LPHN2_ENST00000370725.1_Missense_Mutation_p.A837S|LPHN2_ENST00000370723.1_Missense_Mutation_p.A824S|LPHN2_ENST00000271029.4_Missense_Mutation_p.A837S|LPHN2_ENST00000370727.1_Missense_Mutation_p.A837S|LPHN2_ENST00000359929.3_Missense_Mutation_p.A824S|LPHN2_ENST00000370713.1_Missense_Mutation_p.A824S|LPHN2_ENST00000370721.1_Missense_Mutation_p.A762S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.A837S|LPHN2_ENST00000319517.6_Missense_Mutation_p.A824S|LPHN2_ENST00000370715.1_Missense_Mutation_p.A824S|LPHN2_ENST00000394879.1_Missense_Mutation_p.A824S|LPHN2_ENST00000370730.1_Missense_Mutation_p.A837S|LPHN2_ENST00000335786.5_Missense_Mutation_p.A837S			O95490	LPHN2_HUMAN	latrophilin 2	837					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGGGAAATTGCAGTAAGTAT	0.418																																																	0													88	88	88					1																	82433881		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2509G>T	1.37:g.82433881G>T	ENSP00000359763:p.Ala837Ser		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.A837S	ENST00000370728.1	37	c.2509		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.299|7.299	0.612701|0.612701	0.14066|0.14066	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.68025|.	-0.27;-0.3;-0.3;-0.23;-0.23;-0.18;-0.25;-0.25;-0.25;-0.25;-0.23;-0.18;-0.23;-0.3|.	5.41|5.41	4.49|4.49	0.54785|0.54785	.|.	0.607362|.	0.17634|.	N|.	0.167280|.	T|T	0.10680|0.10680	0.0261|0.0261	N|N	0.03903|0.03903	-0.33|-0.33	0.31283|0.31283	N|N	0.690349|0.690349	B;B;B|.	0.10296|.	0.001;0.003;0.0|.	B;B;B|.	0.11329|.	0.002;0.006;0.001|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.10902|.	T|.	0.67|.	.|.	15.6434|15.6434	0.77025|0.77025	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.	824;824;824|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	S|F	762;837;837;837;837;824;824;824;824;824;837;824;837;837|704	ENSP00000359756:A762S;ENSP00000359763:A837S;ENSP00000359765:A837S;ENSP00000359762:A837S;ENSP00000359760:A837S;ENSP00000359758:A824S;ENSP00000353006:A824S;ENSP00000359750:A824S;ENSP00000359748:A824S;ENSP00000322270:A824S;ENSP00000359752:A837S;ENSP00000378344:A824S;ENSP00000271029:A837S;ENSP00000337306:A837S|.	ENSP00000271029:A837S|.	A|L	+|+	1|3	0|2	LPHN2|LPHN2	82206469|82206469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.920000|2.920000	0.48844|0.48844	1.270000|1.270000	0.44297|0.44297	0.585000|0.585000	0.79938|0.79938	GCA|TTG	LPHN2	-	NULL		0.418	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	G	NM_012302		82433881	1	no_errors	ENST00000370717	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82433881	G	T	82433881	3	4	22	1	0	0	0	0	1	0	0	0	8939	1319	46	4	2512	4	LPHN2	1	82433881	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	55333506	82433881	166816740	8	3232										
SLC22A15	55356	genome.wustl.edu	37	chr1	116534855	116534855	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	agcagcagcttcacctccatCgcctcggaggtaacaacagg	10	14	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:116534855C>T	ENST00000369503.4	+	2	421	c.291C>T	c.(289-291)atC>atT	p.I97I	SLC22A15_ENST00000369502.1_Silent_p.I97I	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	97					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCACCTCCATCGCCTCGGAGG	0.478																																																	0													26	25	26					1																	116534855		2002	4175	6177	SO:0001819	synonymous_variant	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.291C>T	1.37:g.116534855C>T			A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I97	ENST00000369503.4	37	c.291	CCDS44198.1	1																																																																																			SLC22A15	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.478	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	C	NM_018420		116534855	1	no_errors	ENST00000369503	ensembl	human	known	70_37	silent	SNP	0.940	T	T	116534855	C	T	116534855	2	4	22	1	0	0	0	0	0	0	0	1	14476	874	31	1		1	SLC22A15	1	116534855	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	34100974	116534855	132715766	9	3233										
FLG	2312	genome.wustl.edu	37	chr1	152284693	152284693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gtgttgttctgcttgcacttCtggatcctgactgcccacgg	11	12	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:152284693C>T	ENST00000368799.1	-	3	2704	c.2669G>A	c.(2668-2670)aGa>aAa	p.R890K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	890	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R890K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGCACTTCTGGATCCTGA	0.552									Ichthyosis																																								1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											371	362	365					1																	152284693		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2669G>A	1.37:g.152284693C>T	ENSP00000357789:p.Arg890Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R890K	ENST00000368799.1	37	c.2669	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	5.859	0.342584	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.43	0.19	0.15125	.	.	.	.	.	T	0.00695	0.0023	M	0.78916	2.43	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.46925	-0.9156	9	0.17832	T	0.49	.	7.847	0.29431	0.0:0.4584:0.5416:0.0	.	890	P20930	FILA_HUMAN	K	890	ENSP00000357789:R890K	ENSP00000357789:R890K	R	-	2	0	FLG	150551317	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.497000	0.02289	-0.229000	0.09854	-0.510000	0.04470	AGA	FLG	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152284693	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152284693	C	T	152284693	3	4	22	1	0	0	0	0	1	0	0	0	5940	913	32	1	9520	1	FLG	1	152284693	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	35749838	152284693	96965928	10	3234										
DISP1	84976	genome.wustl.edu	37	chr1	223116265	223116265	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ccctcaccccctgtgatggaGaccatgcagcccagcagctc	9	18	1	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:223116265G>A	ENST00000284476.6	+	2	264	c.100G>A	c.(100-102)Gac>Aac	p.D34N	DISP1_ENST00000360254.2_Missense_Mutation_p.D34N|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	34					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTGTGATGGAGACCATGCAGC	0.498																																																	0													133	121	125					1																	223116265		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.100G>A	1.37:g.223116265G>A	ENSP00000284476:p.Asp34Asn		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.D34N	ENST00000284476.6	37	c.100	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653782	0.67472	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93547	0.47;-3.24	5.77	5.77	0.91146	.	0.065887	0.56097	D	0.000022	D	0.91002	0.7170	M	0.67953	2.075	0.37578	D	0.919686	P	0.38922	0.651	B	0.30401	0.115	D	0.92885	0.6326	10	0.72032	D	0.01	-40.4354	14.1789	0.65562	0.0714:0.0:0.9286:0.0	.	34	Q96F81	DISP1_HUMAN	N	34	ENSP00000355848:D34N;ENSP00000284476:D34N	ENSP00000284476:D34N	D	+	1	0	DISP1	221182888	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.460000	0.66691	2.728000	0.93425	0.650000	0.86243	GAC	DISP1	-	NULL		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	G	NM_032890		223116265	1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	223116265	G	A	223116265	3	1	22	1	0	0	0	0	1	0	0	0	4549	942	33	1	102	1	DISP1	1	223116265	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	70831572	223116265	26134356	11	3235										
C1orf35	79169	genome.wustl.edu	37	chr1	228289823	228289823	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cccgcggcttcctcctggccGaggctgccgaggtcccgggc	15	18	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:228289823G>T	ENST00000272139.4	-	6	725	c.491C>A	c.(490-492)tCg>tAg	p.S164*	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	164							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCTCCTGGCCGAGGCTGCCGA	0.736																																																	0													6	10	9					1																	228289823		2038	4135	6173	SO:0001587	stop_gained	79169			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"multiple myeloma tumor-associated protein 2"					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.491C>A	1.37:g.228289823G>T	ENSP00000272139:p.Ser164*		Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Nonsense_Mutation	SNP	pfam_Kinase_phosphorylation_domain	p.S164*	ENST00000272139.4	37	c.491	CCDS1566.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000011	0.74818	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.84	2.92	0.33932	.	0.900203	0.09532	N	0.789437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.8526	7.4799	0.27398	0.1215:0.0:0.8785:0.0	.	.	.	.	X	164	.	ENSP00000272139:S164X	S	-	2	0	C1orf35	226356446	0.016000	0.18221	0.008000	0.14137	0.015000	0.08874	1.614000	0.36911	0.935000	0.37341	0.491000	0.48974	TCG	C1orf35	-	NULL		0.736	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf35	HGNC	protein_coding	OTTHUMT00000092245.1	G	NM_024319		228289823	-1	no_errors	ENST00000272139	ensembl	human	known	70_37	nonsense	SNP	0.027	T	T	228289823	G	T	228289823	4	4	22	1	0	0	0	0	0	1	0	0	2043	1059	37	3	312	3	C1orf35	1	228289823	Nonsense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	5173558	228289823	20960798	12	3236										
OR2L3	391192	genome.wustl.edu	37	chr1	248224828	248224828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cttctacaccaccctcactcCaatgctcaaccccatcatct	1	20	5	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:248224828C>T	ENST00000359959.3	+	1	845	c.845C>T	c.(844-846)cCa>cTa	p.P282L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCCTCACTCCAATGCTCAAC	0.488																																																	0													90	84	86					1																	248224828		2203	4300	6503	SO:0001583	missense	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.845C>T	1.37:g.248224828C>T	ENSP00000353044:p.Pro282Leu		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282L	ENST00000359959.3	37	c.845	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345790	0.41599	.	.	ENSG00000198128	ENST00000359959	T	0.00337	8.05	2.01	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007921	T	0.01156	0.0038	H	0.95611	3.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.52366	-0.8585	10	0.87932	D	0	.	11.9452	0.52924	0.0:1.0:0.0:0.0	.	282	Q8NG85	OR2L3_HUMAN	L	282	ENSP00000353044:P282L	ENSP00000353044:P282L	P	+	2	0	OR2L3	246291451	0.984000	0.35163	0.320000	0.25306	0.199000	0.23934	5.525000	0.67110	1.119000	0.41883	0.456000	0.33151	CCA	OR2L3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	C	NM_001004687		248224828	1	no_errors	ENST00000359959	ensembl	human	known	70_37	missense	SNP	0.989	T	T	248224828	C	T	248224828	3	4	22	1	0	0	0	0	1	0	0	0	11032	594	21	4	847	4	OR2L3	1	248224828	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	19935005	248224828	1025793	13	3237										
ANKRD53	79998	genome.wustl.edu	37	chr2	71209788	71209788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	atgaagatgttcaagagccaGctgaccctcatggagcacaa	10	10	2	4			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:71209788G>A	ENST00000360589.3	+	5	898	c.864G>A	c.(862-864)caG>caA	p.Q288Q	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Silent_p.Q254Q|ANKRD53_ENST00000441349.1_Silent_p.Q199Q|ANKRD53_ENST00000272421.6_Silent_p.Q288Q	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	288										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TCAAGAGCCAGCTGACCCTCA	0.542																																																	0													107	96	100					2																	71209788		2203	4300	6503	SO:0001819	synonymous_variant	79998			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.864G>A	2.37:g.71209788G>A			Q8IYP8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q288	ENST00000360589.3	37	c.864	CCDS46321.1	2																																																																																			ANKRD53	-	superfamily_Ankyrin_rpt-contain_dom		0.542	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	G	NM_024933		71209788	1	no_errors	ENST00000272421	ensembl	human	known	70_37	silent	SNP	0.602	A	A	71209788	G	A	71209788	2	1	22	1	0	0	0	0	0	0	0	1	679	962	34	4		4	ANKRD53	2	71209788	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		71209788	171989585	14	3238										
SMYD5	10322	genome.wustl.edu	37	chr2	73447240	73447240	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aatgcccagaggctgaccggGaaaccaggccaggttctgcc	13	13	1	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:73447240G>A	ENST00000389501.4	+	3	312	c.267G>A	c.(265-267)ggG>ggA	p.G89G	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGCTGACCGGGAAACCAGGCC	0.557																																																	0													54	57	56					2																	73447240		2036	4181	6217	SO:0001819	synonymous_variant	10322			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.267G>A	2.37:g.73447240G>A			D6W5H3|Q13558	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.G89	ENST00000389501.4	37	c.267	CCDS33221.2	2																																																																																			SMYD5	-	pfam_SET_dom,smart_SET_dom		0.557	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	G	NM_006062		73447240	1	no_errors	ENST00000389501	ensembl	human	known	70_37	silent	SNP	0.996	A	A	73447240	G	A	73447240	2	1	22	1	0	0	0	0	0	0	0	1	14855	1161	41	1		1	SMYD5	2	73447240	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	2237452	73447240	169752133	15	3239										
GLI2	2736	genome.wustl.edu	37	chr2	121747944	121747944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ctgtcaggacagcatccagcCccagcccttgccctcaccag	8	19	2	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:121747944C>A	ENST00000452319.1	+	14	4514	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1485H					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCATCCAGCCCCAGCCCTTG	0.622																																																	0													70	76	74					2																	121747944		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4454C>A	2.37:g.121747944C>A	ENSP00000390436:p.Pro1485His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1485H	ENST00000452319.1	37	c.4454	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759005	0.49468	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15603	2.41;2.41	4.53	4.53	0.55603	.	0.349077	0.30051	N	0.010523	T	0.36026	0.0952	M	0.62723	1.935	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.58873	0.635;0.847	T	0.13656	-1.0501	10	0.56958	D	0.05	.	17.444	0.87573	0.0:1.0:0.0:0.0	.	1485;1140	P10070;P10070-2	GLI2_HUMAN;.	H	1485	ENSP00000390436:P1485H;ENSP00000354586:P1485H	ENSP00000354586:P1485H	P	+	2	0	GLI2	121464414	0.998000	0.40836	0.997000	0.53966	0.942000	0.58702	3.989000	0.56958	2.349000	0.79799	0.555000	0.69702	CCC	GLI2	-	NULL		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121747944	1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	0.933	A	A	121747944	C	A	121747944	3	1	22	1	0	0	0	0	1	0	0	0	6457	623	22	4	4504	4	GLI2	2	121747944	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	48300704	121747944	121451429	16	3240										
FAM128B	80097	genome.wustl.edu	37	chr2	130939993	130939993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ctgtacgagctggcgcaggcGgcgggcggcgctatcgaccc	17	14	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:130939993G>A	ENST00000281871.6	+	1	493	c.138G>A	c.(136-138)gcG>gcA	p.A46A	SMPD4_ENST00000431183.2_5'UTR|SMPD4_ENST00000409031.1_5'UTR|SMPD4_ENST00000473720.1_5'Flank|AC018804.1_ENST00000578074.1_RNA|SMPD4_ENST00000339679.7_5'Flank|MZT2B_ENST00000409255.1_Silent_p.A46A|SMPD4_ENST00000452225.2_5'Flank|SMPD4_ENST00000453750.1_5'Flank|SMPD4_ENST00000443958.2_5'Flank|SMPD4_ENST00000351288.6_5'Flank|SMPD4_ENST00000426662.2_5'Flank	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	46						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						TGGCGCAGGCGGCGGGCGGCG	0.731																																																	0													7	11	10					2																	130939993		2131	4183	6314	SO:0001819	synonymous_variant	80097			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"	613450	"family with sequence similarity 128, member B"	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.138G>A	2.37:g.130939993G>A			Q96CG4	Silent	SNP	NULL	p.A46	ENST00000281871.6	37	c.138	CCDS2157.1	2																																																																																			MZT2B	-	NULL		0.731	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MZT2B	HGNC	protein_coding	OTTHUMT00000254518.1	G	NM_025029		130939993	1	no_errors	ENST00000281871	ensembl	human	known	70_37	silent	SNP	0.931	A	A	130939993	G	A	130939993	2	1	22	1	0	0	0	0	0	0	0	1	5450	1103	39	2		2	FAM128B	2	130939993	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	9192049	130939993	112259380	17	3241										
GALNT5	11227	genome.wustl.edu	37	chr2	158142597	158142597	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cggattcttcgcctcaaagaGagacatggcttaataagggc	11	9	2	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:158142597G>C	ENST00000259056.4	+	3	2177	c.1692G>C	c.(1690-1692)gaG>gaC	p.E564D		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	564	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCTCAAAGAGAGACATGGCT	0.343																																																	0													73	80	77					2																	158142597		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1692G>C	2.37:g.158142597G>C	ENSP00000259056:p.Glu564Asp		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E564D	ENST00000259056.4	37	c.1692	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182663	0.78677	.	.	ENSG00000136542	ENST00000259056	T	0.62639	0.01	5.87	-0.0943	0.13645	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.75085	2.285	0.35466	D	0.796935	P	0.45126	0.851	P	0.47573	0.55	T	0.71530	-0.4565	10	0.66056	D	0.02	.	9.5285	0.39180	0.6243:0.0:0.3757:0.0	.	564	Q7Z7M9	GALT5_HUMAN	D	564	ENSP00000259056:E564D	ENSP00000259056:E564D	E	+	3	2	GALNT5	157850843	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.761000	0.26489	0.118000	0.18165	0.655000	0.94253	GAG	GALNT5	-	pfam_Glyco_trans_2		0.343	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	G	NM_014568		158142597	1	no_errors	ENST00000259056	ensembl	human	known	70_37	missense	SNP	0.999	C	C	158142597	G	C	158142597	3	2	22	1	0	0	0	0	1	0	0	0	6235	933	33	1	1702	1	GALNT5	2	158142597	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	27202604	158142597	85056776	18	3242										
ABCB6	10058	genome.wustl.edu	37	chr2	220075187	220075187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tctcattagatgtatccagcGctgacgttgcctatagagag	10	9	1	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:220075187G>A	ENST00000265316.3	-	17	2583	c.2267C>T	c.(2266-2268)gCg>gTg	p.A756V	ABCB6_ENST00000439002.2_Missense_Mutation_p.A710V	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	756	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTATCCAGCGCTGACGTTGC	0.552																																																	0													62	57	59					2																	220075187		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2267C>T	2.37:g.220075187G>A	ENSP00000265316:p.Ala756Val		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A756V	ENST00000265316.3	37	c.2267	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.537771|5.537771	0.96460|0.96460	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.84223|.	-1.82;-1.82|.	5.66|5.66	5.66|5.66	0.87406|0.87406	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88001|0.88001	0.6320|0.6320	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.60173|.	0.87;0.707|.	D|D	0.91045|0.91045	0.4874|0.4874	10|5	0.87932|.	D|.	0|.	-21.957|-21.957	19.3638|19.3638	0.94453|0.94453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	710;756|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	V|C	756;710|604	ENSP00000265316:A756V;ENSP00000394333:A710V|.	ENSP00000265316:A756V|.	A|R	-|-	2|1	0|0	ABCB6|ABCB6	219783431|219783431	1.000000|1.000000	0.71417|0.71417	0.868000|0.868000	0.34077|0.34077	0.932000|0.932000	0.56968|0.56968	9.655000|9.655000	0.98512|0.98512	2.673000|2.673000	0.90976|0.90976	0.650000|0.650000	0.86243|0.86243	GCG|CGC	ABCB6	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	G	NM_005689		220075187	-1	no_errors	ENST00000265316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	220075187	G	A	220075187	3	1	22	1	0	0	0	0	1	0	0	0	45	1087	38	2	273	2	ABCB6	2	220075187	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	61932590	220075187	23124186	19	3243										
TRAF3IP1	26146	genome.wustl.edu	37	chr2	239237349	239237349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ctctagtgacgatgcggtgcGgagggttttagctggagaga	17	6	1	2	rs199981238		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:239237349G>A	ENST00000373327.4	+	4	599	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R126Q|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R126Q	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	126	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GATGCGGTGCGGAGGGTTTTA	0.483																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82	83	83		377,377	3.5	0.9	2		83	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TRAF3IP1	NM_015650.3,NM_001139490.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	126/692,126/626	239237349	1,13005	2203	4300	6503	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.377G>A	2.37:g.239237349G>A	ENSP00000362424:p.Arg126Gln		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	pfam_Microtubule/TRAF3/DISC1-bd	p.R126Q	ENST00000373327.4	37	c.377	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533200	0.45073	0.0	1.16E-4	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.15603	2.41;2.41;2.41	4.65	3.5	0.40072	.	0.099394	0.64402	D	0.000005	T	0.07954	0.0199	N	0.04880	-0.145	0.32237	N	0.573152	B;B	0.17852	0.019;0.024	B;B	0.13407	0.003;0.009	T	0.13388	-1.0511	10	0.27785	T	0.31	-38.2589	9.6542	0.39917	0.9152:0.0:0.0848:0.0	.	126;126	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	Q	126	ENSP00000375851:R126Q;ENSP00000362424:R126Q;ENSP00000375852:R126Q	ENSP00000362424:R126Q	R	+	2	0	TRAF3IP1	238902088	1.000000	0.71417	0.948000	0.38648	0.094000	0.18550	1.594000	0.36697	0.756000	0.33013	-0.302000	0.09304	CGG	TRAF3IP1	-	pfam_Microtubule/TRAF3/DISC1-bd		0.483	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	G	NM_015650		239237349	1	no_errors	ENST00000373327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	239237349	G	A	239237349	3	1	22	1	0	0	0	0	1	0	0	0	16471	1116	39	2	391	2	TRAF3IP1	2	239237349	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	19162162	239237349	3962024	20	3244										
RAF1	5894	genome.wustl.edu	37	chr3	12660149	12660149	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gtaggagagatgcagctggaGccatcaaacacggcatcttt	12	9	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:12660149G>C	ENST00000251849.4	-	2	511	c.72C>G	c.(70-72)ggC>ggG	p.G24G	RAF1_ENST00000442415.2_Silent_p.G24G|RAF1_ENST00000542177.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	24					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGCAGCTGGAGCCATCAAACA	0.458			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																															Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													128	115	119					3																	12660149		2203	4300	6503	SO:0001819	synonymous_variant	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.72C>G	3.37:g.12660149G>C			B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.G24	ENST00000251849.4	37	c.72	CCDS2612.1	3																																																																																			RAF1	-	NULL		0.458	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2	G	NM_002880		12660149	-1	no_errors	ENST00000442415	ensembl	human	known	70_37	silent	SNP	1.000	C	C	12660149	G	C	12660149	2	2	22	1	0	0	0	0	0	0	0	1	13032	958	34	4		4	RAF1	3	12660149	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		12660149	185362281	21	3245										
CCBP2	1238	genome.wustl.edu	37	chr3	42906204	42906204	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aacctccttcttctcatggtCttgctccgttacgtgcctcg	7	15	3	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:42906204C>A	ENST00000422265.1	+	3	385	c.210C>A	c.(208-210)gtC>gtA	p.V70V	ACKR2_ENST00000442925.1_Silent_p.V70V|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.V70V|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	70					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTCTCATGGTCTTGCTCCGTT	0.532																																																	0													193	160	171					3																	42906204		2203	4300	6503	SO:0001819	synonymous_variant	1238			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.210C>A	3.37:g.42906204C>A			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.V70	ENST00000422265.1	37	c.210	CCDS2706.1	3																																																																																			CCBP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	C	NM_001296		42906204	1	no_errors	ENST00000273145	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42906204	C	A	42906204	2	1	22	1	0	0	0	0	0	0	0	1	2739	900	32	3		3	CCBP2	3	42906204	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	30246055	42906204	155116226	22	3246										
SLC26A6	65010	genome.wustl.edu	37	chr3	48670795	48670795	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aaccgggaggtgttggagcaGaagggcataggcccgagcac	17	9	0	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:48670795G>T	ENST00000395550.2	-	3	258	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	SLC26A6_ENST00000455886.2_Missense_Mutation_p.L71M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.L71M|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000420764.2_Missense_Mutation_p.L71M|SLC26A6_ENST00000358747.6_Missense_Mutation_p.L50M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.L71M			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	71					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGTTGGAGCAGAAGGGCATAG	0.637																																					NSCLC(13;369 479 28271 30152 44026)												0													50	58	55					3																	48670795		2020	4158	6178	SO:0001583	missense	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.211C>A	3.37:g.48670795G>T	ENSP00000378920:p.Leu71Met		B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L71M	ENST00000395550.2	37	c.211	CCDS43087.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079460	0.76528	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.94862	-3.42;-3.42;-3.51;-3.44;-3.4;-3.54;-3.14;-3.21	4.89	3.05	0.35203	.	.	.	.	.	D	0.94427	0.8207	L	0.34521	1.04	0.32239	N	0.573018	D;D;D;D;D;D	0.89917	1.0;1.0;0.983;0.97;0.97;0.993	D;D;P;P;P;P	0.79108	0.982;0.992;0.885;0.77;0.77;0.844	D	0.92725	0.6195	9	0.45353	T	0.12	.	10.0573	0.42252	0.0752:0.1382:0.7866:0.0	.	71;71;71;71;71;3465	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	M	71;71;71;71;71;50;71;71;71	ENSP00000404684:L71M;ENSP00000378920:L71M;ENSP00000373239:L71M;ENSP00000337648:L71M;ENSP00000351597:L50M;ENSP00000401066:L71M;ENSP00000401813:L71M;ENSP00000405872:L71M	ENSP00000307089:L71M	L	-	1	2	SLC26A6	48645799	1.000000	0.71417	0.168000	0.22838	0.282000	0.26991	4.492000	0.60334	0.625000	0.30304	0.561000	0.74099	CTG	SLC26A6	-	NULL		0.637	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC26A6	HGNC	protein_coding	OTTHUMT00000345040.1	G	NM_022911		48670795	-1	no_errors	ENST00000395550	ensembl	human	known	70_37	missense	SNP	0.698	T	T	48670795	G	T	48670795	3	4	22	1	0	0	0	0	1	0	0	0	14551	933	33	3	2180	3	SLC26A6	3	48670795	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	5764591	48670795	149351635	23	3247										
NT5DC2	64943	genome.wustl.edu	37	chr3	52568558	52568558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccgcactgacccgtcaactCccggtttcccggcgcacgcc	10	20	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:52568558C>G	ENST00000307076.4	-	1	512	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000422318.2_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000476842.1_5'Flank|NT5DC2_ENST00000307092.4_5'Flank|SMIM4_ENST00000307106.3_5'Flank|SMIM4_ENST00000477703.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	38							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCCGTCAACTCCCGGTTTCCC	0.622																																																	0													99	95	97					3																	52568558		2203	4300	6503	SO:0001583	missense	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.112G>C	3.37:g.52568558C>G	ENSP00000302468:p.Glu38Gln		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E38Q	ENST00000307076.4	37	c.112	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675267	0.14841	.	.	ENSG00000168268	ENST00000307076	T	0.22945	1.93	2.27	-0.82	0.10826	.	0.638835	0.14498	U	0.315948	T	0.08714	0.0216	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	10	0.14656	T	0.56	.	2.1924	0.03903	0.2478:0.4364:0.0:0.3158	.	38	Q9H857	NT5D2_HUMAN	Q	38	ENSP00000302468:E38Q	ENSP00000302468:E38Q	E	-	1	0	NT5DC2	52543598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.229000	0.17833	-0.243000	0.09653	-0.251000	0.11542	GAG	NT5DC2	-	pirsf_Pur_nucleotidase		0.622	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	C	NM_022908		52568558	-1	no_errors	ENST00000307076	ensembl	human	known	70_37	missense	SNP	0.000	G	G	52568558	C	G	52568558	3	3	22	1	0	0	0	0	1	0	0	0	10715	864	30	1	1742	1	NT5DC2	3	52568558	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	3897763	52568558	145453872	24	3248										
C3orf64	285203	genome.wustl.edu	37	chr3	69057628	69057628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gtaaccaaacctgaactctgGtttgcaggatttctcataac	7	10	2	1	rs142739966		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:69057628G>T	ENST00000383701.3	-	5	1004	c.262C>A	c.(262-264)Cca>Aca	p.P88T	EOGT_ENST00000540764.1_5'UTR|EOGT_ENST00000295571.5_Missense_Mutation_p.P88T|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	88					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										CTGAACTCTGGTTTGCAGGAT	0.398																																																	0								G	THR/PRO	0,4406		0,0,2203	172	164	167		262	2.6	0.9	3	dbSNP_134	167	3,8597	3.0+/-9.4	0,3,4297	no	missense	C3orf64	NM_173654.1	38	0,3,6500	TT,TG,GG		0.0349,0.0,0.0231	benign	88/444	69057628	3,13003	2203	4300	6503	SO:0001583	missense	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.262C>A	3.37:g.69057628G>T	ENSP00000373206:p.Pro88Thr		A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61	p.P88T	ENST00000383701.3	37	c.262		3	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828762	0.32329	0.0	3.49E-4	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000424374;ENST00000456376	.	.	.	5.45	2.63	0.31362	.	0.485095	0.25078	N	0.033311	T	0.46405	0.1391	L	0.54323	1.7	0.80722	D	1	B;B	0.30686	0.072;0.29	B;B	0.29077	0.075;0.098	T	0.34800	-0.9814	9	0.36615	T	0.2	.	5.9248	0.19104	0.2245:0.1505:0.625:0.0	.	88;88	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	T	88	.	ENSP00000295571:P88T	P	-	1	0	C3orf64	69140318	0.985000	0.35326	0.878000	0.34440	0.894000	0.52154	1.621000	0.36986	0.767000	0.33267	0.563000	0.77884	CCA	EOGT	-	NULL		0.398	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	G	NM_173654		69057628	-1	no_errors	ENST00000383701	ensembl	human	known	70_37	missense	SNP	0.720	T	T	69057628	G	T	69057628	3	4	22	1	0	0	0	0	1	0	0	0	2245	1261	44	4	1113	4	C3orf64	3	69057628	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	16489070	69057628	128964802	25	3249										
C3orf26	84319	genome.wustl.edu	37	chr3	99536827	99536827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tcgagacctgagctgaaatgGcagacgatctcggagacgag	14	9	1	5			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:99536827G>T	ENST00000421999.2	+	1	150	c.4G>T	c.(4-6)Gca>Tca	p.A2S	CMSS1_ENST00000496116.1_3'UTR	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	2							poly(A) RNA binding (GO:0044822)										AGCTGAAATGGCAGACGATCT	0.642																																																	0													49	43	45					3																	99536827		2203	4300	6503	SO:0001583	missense	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.4G>T	3.37:g.99536827G>T	ENSP00000410396:p.Ala2Ser		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.A2S	ENST00000421999.2	37	c.4	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120111	0.56613	.	.	ENSG00000184220	ENST00000421999	T	0.41758	0.99	5.09	5.09	0.68999	.	0.530450	0.17765	N	0.162771	T	0.57257	0.2041	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.55244	-0.8171	10	0.62326	D	0.03	.	14.1727	0.65519	0.0:0.0:1.0:0.0	.	2	Q9BQ75	CC026_HUMAN	S	2	ENSP00000410396:A2S	ENSP00000410396:A2S	A	+	1	0	C3orf26	101019517	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.851000	0.55926	2.809000	0.96659	0.655000	0.94253	GCA	CMSS1	-	NULL		0.642	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359		99536827	1	no_errors	ENST00000421999	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99536827	G	T	99536827	3	4	22	1	0	0	0	0	1	0	0	0	2223	1203	42	4	6	4	C3orf26	3	99536827	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	30479199	99536827	98485603	26	3250										
IGSF11	152404	genome.wustl.edu	37	chr3	118647512	118647512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gcctgtaaatcctaccctacCgtggaaccggggggcaccat	11	14	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:118647512C>T	ENST00000393775.2	-	3	573	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	IGSF11_ENST00000441144.2_Missense_Mutation_p.G89S|IGSF11_ENST00000491903.1_Missense_Mutation_p.G90S|IGSF11_ENST00000425327.2_Missense_Mutation_p.G89S|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000354673.2_Missense_Mutation_p.G89S|IGSF11_ENST00000489689.1_Missense_Mutation_p.G90S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	90	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTACCCTACCGTGGAACCGG	0.473																																																	0													73	68	70					3																	118647512		2203	4300	6503	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.268G>A	3.37:g.118647512C>T	ENSP00000377370:p.Gly90Ser		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G90S	ENST00000393775.2	37	c.268	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902612	0.92035	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903;ENST00000483401;ENST00000480431	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104215	0.64402	D	0.000003	T	0.81451	0.4825	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80977	-0.1141	10	0.44086	T	0.13	.	17.0746	0.86583	0.0:1.0:0.0:0.0	.	90;89;89;90;90	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	S	89;90;90;89;89;90;31;31	ENSP00000406092:G89S;ENSP00000377370:G90S;ENSP00000420486:G90S;ENSP00000346700:G89S;ENSP00000401240:G89S;ENSP00000417413:G90S;ENSP00000418976:G31S	ENSP00000346700:G89S	G	-	1	0	IGSF11	120130202	1.000000	0.71417	0.961000	0.40146	0.777000	0.43975	7.278000	0.78587	2.589000	0.87451	0.655000	0.94253	GGT	IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	C			118647512	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118647512	C	T	118647512	3	4	22	1	0	0	0	0	1	0	0	0	7618	652	23	2	1047	2	IGSF11	3	118647512	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	19110685	118647512	79374918	27	3251										
KALRN	8997	genome.wustl.edu	37	chr3	124215190	124215190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ggatattgacagccagggggAtgggagcagccaaccagaca	15	9	0	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:124215190A>G	ENST00000240874.3	+	33	5016	c.4859A>G	c.(4858-4860)gAt>gGt	p.D1620G	KALRN_ENST00000360013.3_Missense_Mutation_p.D1620G|KALRN_ENST00000460856.1_Missense_Mutation_p.D1611G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1620					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCAGGGGGATGGGAGCAGC	0.537																																																	0													134	128	130					3																	124215190		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4859A>G	3.37:g.124215190A>G	ENSP00000240874:p.Asp1620Gly		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D1620G	ENST00000240874.3	37	c.4859	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.62|18.62	3.663166|3.663166	0.67700|0.67700	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.14391|.	2.51;2.51;2.51|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.117169|.	0.56097|.	D|.	0.000033|.	T|T	0.71307|0.71307	0.3324|0.3324	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.50819|.	0.774;0.939;0.855|.	P;P;P|.	0.54544|.	0.574;0.516;0.755|.	T|T	0.70360|0.70360	-0.4893|-0.4893	10|5	0.32370|.	T|.	0.25|.	.|.	15.6116|15.6116	0.76727|0.76727	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1611;1620;1620|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	G|V	1611;1620;1620|1589	ENSP00000418611:D1611G;ENSP00000240874:D1620G;ENSP00000353109:D1620G|.	ENSP00000240874:D1620G|.	D|M	+|+	2|1	0|0	KALRN|KALRN	125697880|125697880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.087000|9.087000	0.94110|0.94110	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAT|ATG	KALRN	-	NULL		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	A	NM_003947		124215190	1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124215190	A	G	124215190	3	3	22	1	0	0	0	0	1	0	0	0	7995	333	12	5	4989	5	KALRN	3	124215190	Missense_Mutation	SNP	A	TCGA-C5-A1MI-01A-11D-A14W-08	5567678	124215190	73807240	28	3252										
FRAS1	80144	genome.wustl.edu	37	chr4	79396683	79396683	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ccatcgtcctgtgtcgcaccGagcaaggcaccgccagctcc	10	18	0	0	rs368306704		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:79396683G>T	ENST00000264895.6	+	54	8214	c.7774G>T	c.(7774-7776)Gag>Tag	p.E2592*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2592	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E2592K(1)|p.E2593K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTCGCACCGAGCAAGGCAC	0.587																																																	2	Substitution - Missense(2)	endometrium(2)											103	114	110					4																	79396683		2099	4226	6325	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7774G>T	4.37:g.79396683G>T	ENSP00000264895:p.Glu2592*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E2592*	ENST00000264895.6	37	c.7774	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.844331|4.844331	0.91197|0.91197	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.44|5.44	0.877|0.877	0.19145|0.19145	.|.	0.360371|.	0.30686|.	N|.	0.009093|.	.|T	.|0.57829	.|0.2080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50825	.|-0.8782	.|4	0.29301|.	T|.	0.29|.	.|.	9.7118|9.7118	0.40249|0.40249	0.3375:0.0:0.6625:0.0|0.3375:0.0:0.6625:0.0	.|.	.|.	.|.	.|.	X|L	2592|820	.|.	ENSP00000264895:E2592X|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79615707|79615707	0.999000|0.999000	0.42202|0.42202	0.011000|0.011000	0.14972|0.14972	0.058000|0.058000	0.15608|0.15608	2.715000|2.715000	0.47210|0.47210	0.046000|0.046000	0.15833|0.15833	-0.967000|-0.967000	0.02615|0.02615	GAG|CGA	FRAS1	-	pfam_Calx_beta,smart_Calx_beta		0.587	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79396683	1	no_errors	ENST00000264895	ensembl	human	known	70_37	nonsense	SNP	0.744	T	T	79396683	G	T	79396683	4	4	22	1	0	0	0	0	0	1	0	0	6060	1059	37	3	8063	3	FRAS1	4	79396683	Nonsense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		79396683	111757593	29	3253										
RAPGEF2	9693	genome.wustl.edu	37	chr4	160266410	160266410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	agtgaagcagtacctttccaAtttggagctagaaatggacg	11	7	0	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:160266410A>G	ENST00000264431.4	+	18	3367	c.2948A>G	c.(2947-2949)aAt>aGt	p.N983S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	983					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TACCTTTCCAATTTGGAGCTA	0.448																																																	0													141	140	141					4																	160266410		1933	4168	6101	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2948A>G	4.37:g.160266410A>G	ENSP00000264431:p.Asn983Ser		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.N983S	ENST00000264431.4	37	c.2948	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.07|10.07	1.249884|1.249884	0.22880|0.22880	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.28255	.|1.62	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Ras guanine nucleotide exchange factor, domain (1);	.|0.120690	.|0.85682	.|D	.|0.000000	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.41415|0.41415	1.275|1.275	0.42139|0.42139	D|D	0.991507|0.991507	.|B	.|0.10296	.|0.003	.|B	.|0.09377	.|0.004	T|T	0.09378|0.09378	-1.0677|-1.0677	5|10	.|0.13853	.|T	.|0.58	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|983	.|Q9Y4G8	.|RPGF2_HUMAN	V|S	15|983	.|ENSP00000264431:N983S	.|ENSP00000264431:N983S	I|N	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160485860|160485860	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	5.335000|5.335000	0.65929|0.65929	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATT|AAT	RAPGEF2	-	superfamily_Ras_GEF_dom		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	A	NM_014247		160266410	1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	G	G	160266410	A	G	160266410	3	3	22	1	0	0	0	0	1	0	0	0	13074	101	4	5	3018	5	RAPGEF2	4	160266410	Missense_Mutation	SNP	A	TCGA-C5-A1MI-01A-11D-A14W-08	80869727	160266410	30887866	30	3254										
TLL1	7092	genome.wustl.edu	37	chr4	166976380	166976380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tggatgaagtttgtttctgaCggaactgtgaacaaagcagg	13	5	1	3	rs142933283		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:166976380C>T	ENST00000061240.2	+	13	2324	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	TLL1_ENST00000507499.1_Silent_p.D582D|RNA5SP170_ENST00000517150.1_RNA	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	559	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D559D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGTTTCTGACGGAACTGTGA	0.363																																																	1	Substitution - coding silent(1)	large_intestine(1)						T		0,4406		0,0,2203	122	118	120		1677	-4.5	0.8	4	dbSNP_134	120	2,8598	818.9+/-406.8	0,2,4298	no	coding-synonymous	TLL1	NM_012464.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		559/1014	166976380	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1677C>T	4.37:g.166976380C>T			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.D559	ENST00000061240.2	37	c.1677	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	C			166976380	1	no_errors	ENST00000061240	ensembl	human	known	70_37	silent	SNP	0.954	T	T	166976380	C	T	166976380	2	4	22	1	0	0	0	0	0	0	0	1	15975	535	19	2		2	TLL1	4	166976380	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	6709970	166976380	24177896	31	3255										
KIF2A	3796	genome.wustl.edu	37	chr5	61668279	61668279	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ctgcagagtaaaggagtttgGaattagtccatcagacattc	10	7	1	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:61668279G>T	ENST00000401507.3	+	17	1957				KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.G554V|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000381103.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAGGAGTTTGGAATTAGTCCA	0.408																																																	0													90	85	87					5																	61668279		1855	4104	5959	SO:0001627	intron_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1647-1235G>T	5.37:g.61668279G>T			A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G554V	ENST00000401507.3	37	c.1661	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588112	0.66105	.	.	ENSG00000068796	ENST00000407818	T	0.73681	-0.77	4.97	4.97	0.65823	.	.	.	.	.	T	0.73845	0.3639	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74746	-0.3561	9	0.27082	T	0.32	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	554	O00139-4	.	V	554	ENSP00000385000:G554V	ENSP00000385000:G554V	G	+	2	0	KIF2A	61704036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.587000	0.87381	0.655000	0.94253	GGA	KIF2A	-	smart_Kinesin_motor_dom		0.408	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	G	NM_004520		61668279	1	no_errors	ENST00000407818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61668279	G	T	61668279	1	4	22	0	1	0	0	0	0	0	0	0	8317	1174	41	3		3	KIF2A	5	61668279	Intron	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		61668279	119246981	32	3256										
MAP1B	4131	genome.wustl.edu	37	chr5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aaagacccccctgggtgaacGtagtgtgaacttctctctga	10	11	2	4	rs372421201		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:71493006G>A	ENST00000296755.7	+	5	4122	c.3824G>A	c.(3823-3825)cGt>cAt	p.R1275H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1275H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		20810	0		0	False		,,,				2504	0				Melanoma(17;367 822 11631 31730 47712)												1	Substitution - Missense(1)	prostate(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	64	64		3824	5.8	1	5		64	0,8600		0,0,4300	no	missense	MAP1B	NM_005909.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1275/2469	71493006	1,13005	2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3824G>A	5.37:g.71493006G>A	ENSP00000296755:p.Arg1275His		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R1275H	ENST00000296755.7	37	c.3824	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976924	0.53720	2.27E-4	0.0	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.07458	0.0188	N	0.08118	0	0.47153	D	0.999338	D;D	0.76494	0.999;0.998	P;P	0.61275	0.886;0.862	T	0.52208	-0.8606	10	0.56958	D	0.05	-10.8595	20.032	0.97543	0.0:0.0:1.0:0.0	.	1149;1275	A2BDK6;P46821	.;MAP1B_HUMAN	H	1275	ENSP00000296755:R1275H	ENSP00000296755:R1275H	R	+	2	0	MAP1B	71528762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.924000	0.56476	2.743000	0.94032	0.655000	0.94253	CGT	MAP1B	-	NULL		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71493006	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.999	A	A	71493006	G	A	71493006	3	1	22	1	0	0	0	0	1	0	0	0	9251	1145	40	2	3842	2	MAP1B	5	71493006	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	9824727	71493006	109422254	33	3257										
RHOBTB3	22836	genome.wustl.edu	37	chr5	95067758	95067758	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccagtgcgtttgggaatgtCaagctggtggtccacgactg	15	9	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:95067758C>G	ENST00000379982.3	+	2	706	c.198C>G	c.(196-198)gtC>gtG	p.V66V	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.V66V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	66	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTGGGAATGTCAAGCTGGTGG	0.597																																																	0													78	64	69					5																	95067758		2203	4300	6503	SO:0001819	synonymous_variant	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.198C>G	5.37:g.95067758C>G			A0PJA4|A8K1W9|Q8IW06	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V66	ENST00000379982.3	37	c.198	CCDS4077.1	5																																																																																			RHOBTB3	-	NULL		0.597	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95067758	1	no_errors	ENST00000379982	ensembl	human	known	70_37	silent	SNP	1.000	G	G	95067758	C	G	95067758	2	3	22	1	0	0	0	0	0	0	0	1	13365	813	29	1		1	RHOBTB3	5	95067758	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	23574752	95067758	85847502	34	3258										
CAMLG	819	genome.wustl.edu	37	chr5	134074479	134074480	+	Missense_Mutation	DNP	GC	GC	TT													0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ttcacaggcccgggagcggcGcgggtaagagcctcgatttc							TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:134074479_134074480GC>TT	ENST00000297156.2	+	1	289_290	c.169_170GC>TT	c.(169-171)GCg>TTg	p.A57L	CAMLG_ENST00000514518.1_Missense_Mutation_p.A57L	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	57					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CGGGAGCGGCGCGGGTAAGAGC	0.604																																																	0																																										SO:0001583	missense	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"calcium-modulating cyclophilin ligand", "calcium-signal modulating cyclophilin ligand", "cyclophilin B-binding protein"	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	Exception_encountered	5.37:g.134074479_134074480delinsTT	ENSP00000297156:p.Ala57Leu		A1L3Y3	Missense_Mutation	SNP	pirsf_Ca_signal-mod_cyclophilin_lig	p.A57S|p.A57V	ENST00000297156.2	37	c.169|c.170	CCDS4178.1	5																																																																																			CAMLG	-	pirsf_Ca_signal-mod_cyclophilin_lig		0.604	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMLG	HGNC	protein_coding	OTTHUMT00000251161.1	G|C	NM_001745		134074479|134074480	1	no_errors	ENST00000297156	ensembl	human	known	70_37	missense	SNP	0.992|0.845	T	TT	134074480	GC	TT	134074479	3	4	22	1	0	0	0	0	1	0	0	0	2614	1087	38	2	171	2	CAMLG	5	134074479	Missense_Mutation	DNP	GC	TCGA-C5-A1MI-01A-11D-A14W-08	39006721	134074479	46840781	35	3259										
CTNNA1	1495	genome.wustl.edu	37	chr5	138253527	138253527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aacaatgggaaaaacaagtcCgtgttctcacagatgctgtc	9	9	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:138253527C>T	ENST00000302763.7	+	11	1576	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R393C|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R496C|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R126C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	496					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAACAAGTCCGTGTTCTCAC	0.433																																																	0													259	263	261					5																	138253527		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1486C>T	5.37:g.138253527C>T	ENSP00000304669:p.Arg496Cys		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R496C	ENST00000302763.7	37	c.1486	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914771	0.92178	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000523685;ENST00000540387	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.12	5.12	0.69794	.	0.056950	0.64402	D	0.000002	T	0.57917	0.2086	M	0.73217	2.22	0.80722	D	1	D;P;D	0.76494	0.999;0.6;0.998	P;B;P	0.58391	0.819;0.101;0.838	T	0.62158	-0.6913	10	0.66056	D	0.02	-5.1697	13.1594	0.59537	0.1599:0.8401:0.0:0.0	.	496;373;496	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	393;496;496;481;496;126;126	ENSP00000347190:R393C;ENSP00000304669:R496C;ENSP00000427821:R496C;ENSP00000430240:R126C;ENSP00000438476:R126C	ENSP00000304669:R496C	R	+	1	0	CTNNA1	138281426	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.926000	0.70070	2.382000	0.81193	0.650000	0.86243	CGT	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.433	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	C	NM_001903		138253527	1	no_errors	ENST00000302763	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138253527	C	T	138253527	3	4	22	1	0	0	0	0	1	0	0	0	4017	652	23	2	1524	2	CTNNA1	5	138253527	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	4179048	138253527	42661733	36	3260										
HLA-DRB1	3123	genome.wustl.edu	37	chr6	32549588	32549588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gctgcaggggctgggtctttGaaggatatacagtcacctta	13	8	2	1	rs201929247	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:32549588G>A	ENST00000360004.5	-	3	503	c.398C>T	c.(397-399)tCa>tTa	p.S133L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	133	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CTGGGTCTTTGAAGGATATAC	0.512										Multiple Myeloma(14;0.17)																																							0													57	71	66					6																	32549588		1511	2709	4220	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.398C>T	6.37:g.32549588G>A	ENSP00000353099:p.Ser133Leu		P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.S133L	ENST00000360004.5	37	c.398	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	6.973	0.549575	0.13374	.	.	ENSG00000196126	ENST00000360004	T	0.02916	4.11	3.87	2.05	0.26809	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.987485	0.08278	N	0.970401	T	0.01353	0.0044	L	0.48218	1.51	0.09310	N	1	B	0.22541	0.071	B	0.27380	0.079	T	0.47275	-0.9130	10	0.87932	D	0	.	7.8864	0.29653	0.2137:0.0:0.7863:0.0	.	133	P01911	2B1F_HUMAN	L	133	ENSP00000353099:S133L	ENSP00000353099:S133L	S	-	2	0	HLA-DRB1	32657566	0.033000	0.19621	0.179000	0.23059	0.051000	0.14879	2.068000	0.41471	0.252000	0.21531	0.453000	0.30009	TCA	HLA-DRB1	-	pfam_Ig_C1-set,pfscan_Ig-like		0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	G	NM_002124		32549588	-1	no_errors	ENST00000360004	ensembl	human	known	70_37	missense	SNP	0.267	A	A	32549588	G	A	32549588	3	1	22	1	0	0	0	0	1	0	0	0	7228	1294	45	1	418	1	HLA-DRB1	6	32549588	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		32549588	138565479	37	3261										
ANKRD6	22881	genome.wustl.edu	37	chr6	90312810	90312810	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	acggagatcatcgcggcgctCatccacgaagggtgtgccct	13	13	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:90312810C>T	ENST00000522441.1	+	4	923	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ANKRD6_ENST00000447838.2_Silent_p.L94L|ANKRD6_ENST00000339746.4_Silent_p.L94L|ANKRD6_ENST00000520793.1_Silent_p.L94L|ANKRD6_ENST00000369408.5_Silent_p.L94L|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000485637.1_Silent_p.L94L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	94					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCGCGGCGCTCATCCACGAAG	0.612																																																	0													41	48	46					6																	90312810		2097	4206	6303	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.282C>T	6.37:g.90312810C>T			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L94	ENST00000522441.1	37	c.282	CCDS56441.1	6																																																																																			ANKRD6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.612	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	C			90312810	1	no_errors	ENST00000339746	ensembl	human	known	70_37	silent	SNP	0.988	T	T	90312810	C	T	90312810	2	4	22	1	0	0	0	0	0	0	0	1	685	813	29	1		1	ANKRD6	6	90312810	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	57763222	90312810	80802257	38	3262										
BCLAF1	9774	genome.wustl.edu	37	chr6	136599911	136599911	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tatgttctggaacgagacctAgaactaaaaatgaaataaat	7	5	1	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:136599911A>G	ENST00000531224.1	-	4	360	c.108T>C	c.(106-108)tcT>tcC	p.S36S	BCLAF1_ENST00000530767.1_Silent_p.S36S|BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000527759.1_Intron|BCLAF1_ENST00000527536.1_Silent_p.S36S|BCLAF1_ENST00000392348.2_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	36					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACGAGACCTAGAACTAAAAA	0.318																																					Colon(142;1534 1789 5427 7063 28491)												0													24	25	25					6																	136599911		2202	4292	6494	SO:0001819	synonymous_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.108T>C	6.37:g.136599911A>G			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S36	ENST00000531224.1	37	c.108	CCDS5177.1	6																																																																																			BCLAF1	-	NULL		0.318	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	A	NM_014739		136599911	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	silent	SNP	1.000	G	G	136599911	A	G	136599911	2	3	22	1	0	0	0	0	0	0	0	1	1384	407	15	5		5	BCLAF1	6	136599911	Silent	SNP	A	TCGA-C5-A1MI-01A-11D-A14W-08	46287101	136599911	34515156	39	3263										
IPCEF1	26034	genome.wustl.edu	37	chr6	154567853	154567853	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ttggcagtcagcatggcccaGatctttacacgatatcctcc	8	13	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:154567853G>A	ENST00000265198.4	-	5	270	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	IPCEF1_ENST00000519344.1_Silent_p.L11L|OPRM1_ENST00000337049.4_Silent_p.Q397Q|IPCEF1_ENST00000367220.4_Silent_p.L40L|IPCEF1_ENST00000422970.2_Silent_p.L40L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	39					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCATGGCCCAGATCTTTACAC	0.423																																																	0													147	129	135					6																	154567853		2203	4300	6503	SO:0001819	synonymous_variant	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.115C>T	6.37:g.154567853G>A			A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L40	ENST00000265198.4	37	c.118	CCDS5245.1	6																																																																																			IPCEF1	-	NULL		0.423	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	G	NM_001130699		154567853	-1	no_errors	ENST00000367220	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154567853	G	A	154567853	2	1	22	1	0	0	0	0	0	0	0	1	7811	933	33	1		1	IPCEF1	6	154567853	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	17967942	154567853	16547214	40	3264										
ZNF12	7559	genome.wustl.edu	37	chr7	6731192	6731192	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	acattcatagggtttctctcCtgaatgagttctataatgta	7	7	3	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:6731192C>A	ENST00000405858.1	-	5	1922	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.G387*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.G423*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	461					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGTTTCTCTCCTGAATGAGTT	0.423																																																	0													79	87	84					7																	6731192		2198	4298	6496	SO:0001587	stop_gained	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1381G>T	7.37:g.6731192C>A	ENSP00000385939:p.Gly461*		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G461*	ENST00000405858.1	37	c.1381	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.006012	0.99315	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	.	.	.	4.0	4.0	0.46444	.	0.000000	0.40302	N	0.001121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4017	0.67050	0.0:1.0:0.0:0.0	.	.	.	.	X	387;461;423;519;423	.	ENSP00000331039:G423X	G	-	1	0	ZNF12	6697717	0.758000	0.28405	0.972000	0.41901	0.999000	0.98932	5.855000	0.69510	2.521000	0.84997	0.655000	0.94253	GGA	ZNF12	-	pfscan_Znf_C2H2		0.423	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	C	NM_016265		6731192	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	6731192	C	A	6731192	4	1	22	1	0	0	0	0	0	1	0	0	17748	690	24	4	716	4	ZNF12	7	6731192	Nonsense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		6731192	152407471	41	3265										
POM121	9883	genome.wustl.edu	37	chr7	72413868	72413868	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gctggcagtgggagctttggGatcaatgtggccaccccagg	16	10	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:72413868G>A	ENST00000434423.2	+	11	3336	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G	POM121_ENST00000358357.3_Silent_p.G847G|POM121_ENST00000446813.1_Silent_p.G847G|POM121_ENST00000257622.4_Silent_p.G847G|POM121_ENST00000395270.1_Silent_p.G847G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1112	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGAGCTTTGGGATCAATGTGG	0.652																																																	0													26	21	23					7																	72413868		2173	4183	6356	SO:0001819	synonymous_variant	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3336G>A	7.37:g.72413868G>A			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.G1112	ENST00000434423.2	37	c.3336		7																																																																																			POM121	-	NULL		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	G			72413868	1	no_errors	ENST00000434423	ensembl	human	known	70_37	silent	SNP	0.823	A	A	72413868	G	A	72413868	2	1	22	1	0	0	0	0	0	0	0	1	12263	1161	41	1		1	POM121	7	72413868	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	65682676	72413868	86724795	42	3266										
CYP3A5	1577	genome.wustl.edu	37	chr7	99264297	99264297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	caatacatctccatactgggCaatgatggggaacatctaag	9	9	2	1	rs201847489		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:99264297C>T	ENST00000222982.4	-	6	547	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000343703.5_Missense_Mutation_p.A140T|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	150					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCATACTGGGCAATGATGGGG	0.478																																																	0													143	128	133					7																	99264297		2203	4300	6503	SO:0001583	missense	1577			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.448G>A	7.37:g.99264297C>T	ENSP00000222982:p.Ala150Thr		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A150T	ENST00000222982.4	37	c.448	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	C	8.682	0.905472	0.17760	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.68181	-0.31;-0.31	3.74	-2.02	0.07388	.	1.042500	0.07586	N	0.921187	T	0.44973	0.1319	N	0.12887	0.27	0.09310	N	1	B;B	0.17268	0.021;0.014	B;B	0.11329	0.004;0.006	T	0.24870	-1.0148	10	0.29301	T	0.29	.	9.1547	0.36985	0.0:0.1834:0.0:0.8166	.	140;150	F5H4S0;P20815	.;CP3A5_HUMAN	T	150;140	ENSP00000222982:A150T;ENSP00000342969:A140T	ENSP00000222982:A150T	A	-	1	0	CYP3A5	99102233	0.000000	0.05858	0.158000	0.22627	0.862000	0.49288	-1.140000	0.03210	-0.344000	0.08338	-0.345000	0.07892	GCC	CYP3A5	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.478	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1	C			99264297	-1	no_errors	ENST00000222982	ensembl	human	known	70_37	missense	SNP	0.003	T	T	99264297	C	T	99264297	3	4	22	1	0	0	0	0	1	0	0	0	4185	710	25	4	1092	4	CYP3A5	7	99264297	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	26850429	99264297	59874366	43	3267										
ZNF467	168544	genome.wustl.edu	37	chr7	149462767	149462767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gaaagcgcttctcgcattccGtgcaggggaagggccgctcg	15	12	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:149462767G>T	ENST00000302017.3	-	5	1237	c.824C>A	c.(823-825)aCg>aAg	p.T275K	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCGCATTCCGTGCAGGGGAA	0.657																																																	0													38	25	29					7																	149462767		2203	4300	6503	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.824C>A	7.37:g.149462767G>T	ENSP00000304769:p.Thr275Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T275K	ENST00000302017.3	37	c.824	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	g	9.655	1.142520	0.21205	.	.	ENSG00000181444	ENST00000302017	T	0.07021	3.23	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.515158	0.14446	U	0.319059	T	0.04588	0.0125	N	0.10685	0.025	0.09310	N	1	P	0.44946	0.846	B	0.42593	0.392	T	0.12708	-1.0537	10	0.05721	T	0.95	-6.3592	12.4356	0.55598	0.0:0.0:0.8312:0.1687	.	275	Q7Z7K2	ZN467_HUMAN	K	275	ENSP00000304769:T275K	ENSP00000304769:T275K	T	-	2	0	ZNF467	149093700	0.000000	0.05858	0.657000	0.29651	0.773000	0.43773	0.086000	0.14935	1.940000	0.56252	0.457000	0.33378	ACG	ZNF467	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	G	NM_207336		149462767	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.031	T	T	149462767	G	T	149462767	3	4	22	1	0	0	0	0	1	0	0	0	17957	1145	40	2	967	2	ZNF467	7	149462767	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	50198470	149462767	9675896	44	3268										
SSPO	23145	genome.wustl.edu	37	chr7	149485713	149485713	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tggggccgcaactccttcccGccggggtctgtgctgcaaaa	13	14	1	0	rs376326507	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:149485713G>A	ENST00000378016.2	+	0	4023							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTCCTTCCCGCCGGGGTCTG	0.632													G|||	2	0.000399361	0	0	5008	,	,		20293	0		0	False		,,,				2504	0.002																0								G		0,4078		0,0,2039	20	22	22		4027	-8.3	0	7		22	1,8371		0,1,4185	no	coding-notMod3	SSPO	NM_198455.2		0,1,6224	AA,AG,GG		0.0119,0.0,0.0080			149485713	1,12449	2039	4186	6225			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485713G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.632	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149485713	1	no_errors	ENST00000262089	ensembl	human	known	70_37	rna	SNP	0.013	A	A	149485713	G	A	149485713	1	1	22	0	1	0	0	0	0	0	0	0	15219	1074	38	2		2	SSPO	7	149485713	RNA	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	22946	149485713	9652950	45	3269										
ABCB8	11194	genome.wustl.edu	37	chr7	150739173	150739173	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gagttcatcaccagcttcccCgagggctacaacacggtcgt	10	14	2	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:150739173C>A	ENST00000297504.6	+	15	1860	c.1794C>A	c.(1792-1794)ccC>ccA	p.P598P	ABCB8_ENST00000542328.1_Silent_p.P493P|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Silent_p.P581P|ABCB8_ENST00000358849.4_Silent_p.P581P			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	598	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCAGCTTCCCCGAGGGCTACA	0.602																																																	0													66	66	66					7																	150739173		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1794C>A	7.37:g.150739173C>A			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.P598	ENST00000297504.6	37	c.1794		7																																																																																			ABCB8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	C	NM_007188		150739173	1	no_errors	ENST00000297504	ensembl	human	known	70_37	silent	SNP	0.000	A	A	150739173	C	A	150739173	2	1	22	1	0	0	0	0	0	0	0	1	47	639	23	2		2	ABCB8	7	150739173	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	1253460	150739173	8399490	46	3270										
HSF1	3297	genome.wustl.edu	37	chr8	145515503	145515503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tcccggccttcctgaccaagCtgtggaccctcgtgagcgac	11	16	0	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:145515503C>T	ENST00000528838.1	+	1	224	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	BOP1_ENST00000307404.5_5'Flank|BOP1_ENST00000529231.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	22					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTGACCAAGCTGTGGACCCT	0.751																																																	0													7	8	8					8																	145515503		2142	4223	6365	SO:0001819	synonymous_variant	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.64C>T	8.37:g.145515503C>T			A8K4L0|A8MW26|Q53XT4	Silent	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.L22	ENST00000528838.1	37	c.64	CCDS6419.1	8																																																																																			HSF1	-	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd		0.751	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	C	NM_005526		145515503	1	no_errors	ENST00000528838	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145515503	C	T	145515503	2	4	22	1	0	0	0	0	0	0	0	1	7415	796	28	4		4	HSF1	8	145515503	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		145515503	848519	47	3271										
ZDHHC21	340481	genome.wustl.edu	37	chr9	14672836	14672836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	agagtaccatacctccatgtGggatcttggggttctcaggg	13	9	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:14672836G>T	ENST00000380916.4	-	5	711	c.245C>A	c.(244-246)cCa>cAa	p.P82Q		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	82					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		ACCTCCATGTGGGATCTTGGG	0.368																																																	0													86	95	92					9																	14672836		2203	4300	6503	SO:0001583	missense	340481			AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"Zinc fingers, DHHC-type"	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.245C>A	9.37:g.14672836G>T	ENSP00000370303:p.Pro82Gln		A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P82Q	ENST00000380916.4	37	c.245	CCDS6475.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174945	0.78564	.	.	ENSG00000175893	ENST00000380916	T	0.22539	1.95	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	M	0.70903	2.155	0.48632	D	0.999687	D	0.76494	0.999	D	0.91635	0.999	T	0.14531	-1.0469	10	0.24483	T	0.36	-6.09	17.2249	0.86966	0.0:0.0:1.0:0.0	.	82	Q8IVQ6	ZDH21_HUMAN	Q	82	ENSP00000370303:P82Q	ENSP00000370303:P82Q	P	-	2	0	ZDHHC21	14662836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.115000	0.77110	2.661000	0.90470	0.585000	0.79938	CCA	ZDHHC21	-	NULL		0.368	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC21	HGNC	protein_coding	OTTHUMT00000051748.2	G	NM_178566		14672836	-1	no_errors	ENST00000380916	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14672836	G	T	14672836	3	4	22	1	0	0	0	0	1	0	0	0	17642	1348	47	4	568	4	ZDHHC21	9	14672836	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		14672836	126540595	48	3272										
NIPSNAP3B	55335	genome.wustl.edu	37	chr9	107531250	107531250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cgcattgataaacaagagacGgaaattacttacctgatacc	7	9	0	3	rs146813577		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:107531250G>A	ENST00000374762.3	+	3	449	c.378G>A	c.(376-378)acG>acA	p.T126T	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	126										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AACAAGAGACGGAAATTACTT	0.383																																																	0													81	77	78					9																	107531250		2203	4300	6503	SO:0001819	synonymous_variant	55335			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.378G>A	9.37:g.107531250G>A			Q5VX30|Q9NUM2	Silent	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.T126	ENST00000374762.3	37	c.378	CCDS6761.1	9																																																																																			NIPSNAP3B	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.383	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP3B	HGNC	protein_coding	OTTHUMT00000053486.1	G	NM_018376		107531250	1	no_errors	ENST00000374762	ensembl	human	known	70_37	silent	SNP	0.000	A	A	107531250	G	A	107531250	2	1	22	1	0	0	0	0	0	0	0	1	10455	1103	39	2		2	NIPSNAP3B	9	107531250	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	92858414	107531250	33682181	49	3273										
NEK6	10783	genome.wustl.edu	37	chr9	127076209	127076209	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cctcccgcccaagatctttgAgatgatggacgccaaggcga	11	13	1	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:127076209A>T	ENST00000320246.5	+	4	384	c.239A>T	c.(238-240)gAg>gTg	p.E80V	NEK6_ENST00000373603.1_Missense_Mutation_p.E80V|NEK6_ENST00000540326.1_Missense_Mutation_p.E98V|NEK6_ENST00000373600.3_Missense_Mutation_p.E114V|NEK6_ENST00000539416.1_Missense_Mutation_p.E105V|NEK6_ENST00000546191.1_Missense_Mutation_p.E80V|NEK6_ENST00000394199.2_Missense_Mutation_p.E114V|NEK6_ENST00000545174.1_Missense_Mutation_p.E80V	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						AAGATCTTTGAGATGATGGAC	0.582																																					NSCLC(122;934 1785 18647 44295 45571)												0													72	68	69					9																	127076209		2203	4300	6503	SO:0001583	missense	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.239A>T	9.37:g.127076209A>T	ENSP00000319734:p.Glu80Val		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E114V	ENST00000320246.5	37	c.341	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248183	0.59103	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000545174;ENST00000444973;ENST00000373596;ENST00000425237;ENST00000423785;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052253	0.85682	D	0.000000	T	0.70002	0.3174	N	0.26042	0.785	0.80722	D	1	D;D;D;D	0.57257	0.977;0.973;0.979;0.973	P;P;P;P	0.62382	0.886;0.886;0.901;0.848	T	0.73902	-0.3836	10	0.66056	D	0.02	.	14.4588	0.67435	1.0:0.0:0.0:0.0	.	105;114;80;98	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	V	80;98;114;80;80;80;80;80;114;114;80;80;105;80	ENSP00000362705:E80V;ENSP00000441469:E98V;ENSP00000362702:E114V;ENSP00000319734:E80V;ENSP00000442636:E80V;ENSP00000389517:E80V;ENSP00000362698:E80V;ENSP00000403087:E80V;ENSP00000399847:E114V;ENSP00000377749:E114V;ENSP00000441426:E80V;ENSP00000411401:E80V;ENSP00000439651:E105V;ENSP00000403414:E80V	ENSP00000319734:E80V	E	+	2	0	NEK6	126116030	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	8.663000	0.91134	2.008000	0.58898	0.533000	0.62120	GAG	NEK6	-	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		0.582	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	A	NM_014397		127076209	1	no_errors	ENST00000373600	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127076209	A	T	127076209	3	4	22	1	0	0	0	0	1	0	0	0	10352	304	11	5	434	5	NEK6	9	127076209	Missense_Mutation	SNP	A	TCGA-C5-A1MI-01A-11D-A14W-08	19544959	127076209	14137222	50	3274										
IL2RA	3559	genome.wustl.edu	37	chr10	6060063	6060063	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aggaggaggacgctgatcagCaggaaaacacagccggccac	14	11	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:6060063C>A	ENST00000379959.3	-	7	920	c.747G>T	c.(745-747)ctG>ctT	p.L249L	IL2RA_ENST00000379954.1_Silent_p.L177L|SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Silent_p.L240L	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	249					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGCTGATCAGCAGGAAAACAC	0.607																																																	0													57	50	52					10																	6060063		2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.747G>T	10.37:g.6060063C>A			Q5W007	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L249	ENST00000379959.3	37	c.747	CCDS7076.1	10																																																																																			IL2RA	-	NULL		0.607	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	C	NM_000417		6060063	-1	no_errors	ENST00000379959	ensembl	human	known	70_37	silent	SNP	0.881	A	A	6060063	C	A	6060063	2	1	22	1	0	0	0	0	0	0	0	1	7706	697	25	4		4	IL2RA	10	6060063	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		6060063	129474684	51	3275										
ANUBL1	93550	genome.wustl.edu	37	chr10	46122404	46122404	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	attccattcctggagatttcGggcggatatgcattcccaaa	9	10	0	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:46122404G>C	ENST00000344646.5	-	7	1082	c.867C>G	c.(865-867)ccC>ccG	p.P289P	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Silent_p.P215P|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	289							zinc ion binding (GO:0008270)										TGGAGATTTCGGGCGGATATG	0.443																																																	0													110	104	106					10																	46122404		2203	4300	6503	SO:0001819	synonymous_variant	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.867C>G	10.37:g.46122404G>C			A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.P289	ENST00000344646.5	37	c.867	CCDS7214.1	10																																																																																			ZFAND4	-	NULL		0.443	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	G	NM_174890		46122404	-1	no_errors	ENST00000344646	ensembl	human	known	70_37	silent	SNP	0.852	C	C	46122404	G	C	46122404	2	2	22	1	0	0	0	0	0	0	0	1	713	1103	39	2		2	ANUBL1	10	46122404	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	40062341	46122404	89412343	52	3276										
LRRC18	474354	genome.wustl.edu	37	chr10	50121493	50121493	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ggtgagatcagattgggaaaGatggtctttctcggtgtcgt	15	5	3	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:50121493G>T	ENST00000374160.3	-	1	784	c.708C>A	c.(706-708)atC>atA	p.I236I	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.I236I|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	236						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GATTGGGAAAGATGGTCTTTC	0.527																																																	0													204	205	205					10																	50121493		2203	4300	6503	SO:0001819	synonymous_variant	474354			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.708C>A	10.37:g.50121493G>T			Q6UY02	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I236	ENST00000374160.3	37	c.708	CCDS31197.1	10																																																																																			LRRC18	-	NULL		0.527	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	G	NM_001006939		50121493	-1	no_errors	ENST00000374160	ensembl	human	known	70_37	silent	SNP	0.142	T	T	50121493	G	T	50121493	2	4	22	1	0	0	0	0	0	0	0	1	8997	932	33	3		3	LRRC18	10	50121493	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	3999089	50121493	85413254	53	3277										
SFXN2	118980	genome.wustl.edu	37	chr10	104492659	104492659	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aggcttgagaaattgcacttCatgcaggtatgtagggtttg	13	5	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:104492659C>T	ENST00000369893.5	+	9	932	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	255					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATTGCACTTCATGCAGGTAT	0.577																																																	0													177	148	158					10																	104492659		2203	4300	6503	SO:0001819	synonymous_variant	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.765C>T	10.37:g.104492659C>T			Q5JSM6	Silent	SNP	pfam_Mtc,tigrfam_Mtc	p.F255	ENST00000369893.5	37	c.765	CCDS7539.1	10																																																																																			SFXN2	-	pfam_Mtc,tigrfam_Mtc		0.577	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	C	XM_058359		104492659	1	no_errors	ENST00000369893	ensembl	human	known	70_37	silent	SNP	1.000	T	T	104492659	C	T	104492659	2	4	22	1	0	0	0	0	0	0	0	1	14225	825	29	1		1	SFXN2	10	104492659	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	54371166	104492659	31042088	54	3278										
LRRC4C	57689	genome.wustl.edu	37	chr11	40136938	40136938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tgtcacagttacagttccaaGggttgtgatgtaaatgtatc	10	6	1	1	rs373629997		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:40136938G>T	ENST00000278198.2	-	2	2868	c.905C>A	c.(904-906)cCt>cAt	p.P302H	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P302H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P302H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P302H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	302	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACAGTTCCAAGGGTTGTGATG	0.478																																																	0													163	136	145					11																	40136938		2203	4300	6503	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.905C>A	11.37:g.40136938G>T	ENSP00000278198:p.Pro302His		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P302H	ENST00000278198.2	37	c.905	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314542	0.60524	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.75	5.75	0.90469	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64253	-0.6451	10	0.87932	D	0	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	302	Q9HCJ2	LRC4C_HUMAN	H	302	ENSP00000278198:P302H;ENSP00000436976:P302H;ENSP00000437132:P302H;ENSP00000434761:P302H	ENSP00000278198:P302H	P	-	2	0	LRRC4C	40093514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CCT	LRRC4C	-	NULL		0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	G	NM_020929		40136938	-1	no_errors	ENST00000527150	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40136938	G	T	40136938	3	4	22	1	0	0	0	0	1	0	0	0	9031	1000	35	4	1021	4	LRRC4C	11	40136938	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		40136938	94869578	55	3279										
TTC17	55761	genome.wustl.edu	37	chr11	43411246	43411246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cacatagaagagaatgaggaCagagacacaggactggaaca	12	7	0	4			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:43411246C>A	ENST00000039989.4	+	3	308	c.294C>A	c.(292-294)gaC>gaA	p.D98E	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.D98E	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	98					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAATGAGGACAGAGACACAG	0.388																																																	0													124	116	119					11																	43411246		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.294C>A	11.37:g.43411246C>A	ENSP00000039989:p.Asp98Glu		G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D98E	ENST00000039989.4	37	c.294	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209341	0.79240	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.36699	1.31;1.24	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.51422	1.61	0.47698	D	0.999496	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.994;0.991;0.999	T	0.52756	-0.8533	10	0.59425	D	0.04	-19.758	12.7978	0.57567	0.0:0.9206:0.0:0.0794	.	98;98;98	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	E	98	ENSP00000299240:D98E;ENSP00000039989:D98E	ENSP00000039989:D98E	D	+	3	2	TTC17	43367822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.913000	0.63341	2.400000	0.81607	0.563000	0.77884	GAC	TTC17	-	NULL		0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	C	NM_018259		43411246	1	no_errors	ENST00000039989	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43411246	C	A	43411246	3	1	22	1	0	0	0	0	1	0	0	0	16715	477	17	4	304	4	TTC17	11	43411246	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	3274308	43411246	91595270	56	3280										
FERMT3	83706	genome.wustl.edu	37	chr11	63990963	63990963	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cgggggccatgaggccttctGagggctgtctgattgcccct	15	12	2	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:63990963G>C	ENST00000279227.5	+	15	2098	c.2003G>C	c.(2002-2004)tGa>tCa	p.*668S	FERMT3_ENST00000345728.5_Nonstop_Mutation_p.*664S|NUDT22_ENST00000441250.2_5'Flank|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000540472.1_5'Flank	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	0					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGGCCTTCTGAGGGCTGTCT	0.667																																																	0													17	17	17					11																	63990963		2200	4296	6496	SO:0001578	stop_lost	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.2003G>C	11.37:g.63990963G>C	ENSP00000279227:p.*668Serext*44		Q8IUA1|Q8N207|Q9BT48	Nonstop_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.*668S	ENST00000279227.5	37	c.2003	CCDS8060.1	11	.	.	.	.	.	.	.	.	.	.	G	3.150	-0.174433	0.06421	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	.	.	.	4.61	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9791	0.64291	0.1547:0.0:0.8453:0.0	.	.	.	.	S	664;668;185	.	.	X	+	2	2	FERMT3	63747539	0.996000	0.38824	0.581000	0.28614	0.316000	0.28119	0.639000	0.24690	-0.290000	0.09025	-0.459000	0.05422	TGA	FERMT3	-	NULL		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	G	NM_031471		63990963	1	no_errors	ENST00000279227	ensembl	human	known	70_37	nonstop	SNP	0.995	C	C	63990963	G	C	63990963	4	2	22	1	0	0	0	0	0	0	0	0	5837	1285	45	1	2057	1	FERMT3	11	63990963	Nonstop_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	20579717	63990963	71015553	57	3281										
IGSF9B	22997	genome.wustl.edu	37	chr11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ctcggcctctgccttggccaCgctgtacttcttgctgctga	10	15	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:133791120C>T	ENST00000321016.8	-	18	2730	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657																																																	0													70	73	72					11																	133791120		2164	4261	6425	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2500G>A	11.37:g.133791120C>T	ENSP00000317980:p.Val834Met		G5EA26	Missense_Mutation	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.V834M	ENST00000321016.8	37	c.2500		11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285642	0.59867	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.40302	N	0.001125	T	0.77658	0.4163	L	0.51422	1.61	0.51767	D	0.999937	D	0.89917	1.0	D	0.76575	0.988	T	0.79694	-0.1696	10	0.59425	D	0.04	.	16.9242	0.86172	0.0:1.0:0.0:0.0	.	834	Q9UPX0	TUTLB_HUMAN	M	834;676	ENSP00000317980:V834M;ENSP00000436552:V676M	ENSP00000317980:V834M	V	-	1	0	IGSF9B	133296330	1.000000	0.71417	0.993000	0.49108	0.489000	0.33432	7.289000	0.78701	2.320000	0.78422	0.561000	0.74099	GTG	IGSF9B	-	NULL		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		C	XM_290502		133791120	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133791120	C	T	133791120	3	4	22	1	0	0	0	0	1	0	0	0	7626	536	19	2	1557	2	IGSF9B	11	133791120	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	69800157	133791120	1215396	58	3282										
ERBB3	2065	genome.wustl.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186	159	168					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A	A	56478854	G	A	56478854	3	1	22	1	0	0	0	0	1	0	0	0	5220	1145	40	2	320	2	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		56478854	77373041	59	3283										
GLT8D2	83468	genome.wustl.edu	37	chr12	104397008	104397008	+	Frame_Shift_Del	DEL	A	A	-													0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ttgatggcagccatagtggcAcccatcctccctgctgcagc							TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:104397008delA	ENST00000360814.4	-	5	594	c.189delT	c.(187-189)ggtfs	p.G63fs	GLT8D2_ENST00000548660.1_Frame_Shift_Del_p.G63fs|GLT8D2_ENST00000546436.1_Frame_Shift_Del_p.G63fs	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	63						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCATAGTGGCACCCATCCTCC	0.473																																																	0													219	176	190					12																	104397008		2203	4300	6503	SO:0001589	frameshift_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.189delT	12.37:g.104397008delA	ENSP00000354053:p.Gly63fs		Q96KA2	Frame_Shift_Del	DEL	pfam_Glyco_trans_8	p.A64fs	ENST00000360814.4	37	c.189	CCDS9096.1	12																																																																																			GLT8D2	-	pfam_Glyco_trans_8		0.473	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	A	NM_031302		104397008	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	frame_shift_del	DEL	0.027	-	-	104397008	A	-	104397008	7	5	22	1	0	1	0	1	0	0	0	0	6489	146	6	0	888	0	GLT8D2	12	104397008	Frame_Shift_Del	DEL	A	TCGA-C5-A1MI-01A-11D-A14W-08	47918154	104397008	29454887	60	3284										
FICD	11153	genome.wustl.edu	37	chr12	108912198	108912198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gggtaagttggaagccagagCtgccctgaaccaggccctgg	15	11	0	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:108912198C>A	ENST00000552695.1	+	3	558	c.323C>A	c.(322-324)gCt>gAt	p.A108D	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	108					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						GAAGCCAGAGCTGCCCTGAAC	0.617																																																	0													49	47	47					12																	108912198		2203	4300	6503	SO:0001583	missense	11153			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)"					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.323C>A	12.37:g.108912198C>A	ENSP00000446479:p.Ala108Asp		O75406	Missense_Mutation	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A108D	ENST00000552695.1	37	c.323	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716272	0.48622	.	.	ENSG00000198855	ENST00000552695	T	0.79247	-1.25	5.11	5.11	0.69529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048807	0.85682	D	0.000000	D	0.84506	0.5487	M	0.75777	2.31	0.80722	D	1	D	0.54601	0.967	P	0.52514	0.701	D	0.86433	0.1762	10	0.62326	D	0.03	-0.6512	18.9183	0.92515	0.0:1.0:0.0:0.0	.	108	Q9BVA6	FICD_HUMAN	D	108	ENSP00000446479:A108D	ENSP00000446479:A108D	A	+	2	0	FICD	107436328	1.000000	0.71417	0.890000	0.34922	0.080000	0.17528	4.840000	0.62817	2.539000	0.85634	0.655000	0.94253	GCT	FICD	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.617	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	C	NM_007076		108912198	1	no_errors	ENST00000552695	ensembl	human	known	70_37	missense	SNP	0.999	A	A	108912198	C	A	108912198	3	1	22	1	0	0	0	0	1	0	0	0	5905	797	28	4	329	4	FICD	12	108912198	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	4515190	108912198	24939697	61	3285										
NUFIP1	26747	genome.wustl.edu	37	chr13	45563518	45563518	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cctaacgtgggagtcagctcGggagacgcatgccacccgat	13	13	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:45563518G>T	ENST00000379161.4	-	1	100	c.54C>A	c.(52-54)ccC>ccA	p.P18P	GPALPP1_ENST00000379151.4_5'Flank|GPALPP1_ENST00000361121.2_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	18	Pro-rich.				box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GAGTCAGCTCGGGAGACGCAT	0.632																																																	0													20	21	21					13																	45563518		2203	4298	6501	SO:0001819	synonymous_variant	26747			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.54C>A	13.37:g.45563518G>T			Q8WVM5|Q96SG1	Silent	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P18	ENST00000379161.4	37	c.54	CCDS9393.1	13																																																																																			NUFIP1	-	NULL		0.632	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2	G	NM_012345		45563518	-1	no_errors	ENST00000379161	ensembl	human	known	70_37	silent	SNP	0.001	T	T	45563518	G	T	45563518	2	4	22	1	0	0	0	0	0	0	0	1	10772	1103	39	2		2	NUFIP1	13	45563518	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		45563518	69606360	62	3286										
KLHL1	57626	genome.wustl.edu	37	chr13	70371050	70371050	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	attcatcatccctgcctggaTccacagatttgttctcagat	6	12	3	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:70371050T>A	ENST00000377844.4	-	7	2218	c.1459A>T	c.(1459-1461)Atc>Ttc	p.I487F	KLHL1_ENST00000545028.1_Missense_Mutation_p.I294F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	487					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCCTGGATCCACAGATTT	0.383																																																	0													189	172	178					13																	70371050		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1459A>T	13.37:g.70371050T>A	ENSP00000367075:p.Ile487Phe		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.I487F	ENST00000377844.4	37	c.1459	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247278	0.22880	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000004	T	0.74245	0.3691	L	0.37697	1.125	0.49582	D	0.999801	P;P	0.44044	0.697;0.825	P;P	0.48873	0.593;0.511	T	0.69709	-0.5072	10	0.10377	T	0.69	.	15.5524	0.76164	0.0:0.0:0.0:1.0	.	487;487	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	487;294	ENSP00000367075:I487F;ENSP00000439602:I294F	ENSP00000367075:I487F	I	-	1	0	KLHL1	69269051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.898000	0.63238	2.132000	0.65825	0.533000	0.62120	ATC	KLHL1	-	pfam_Kelch_1,smart_Kelch_1		0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	T	NM_020866		70371050	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70371050	T	A	70371050	3	1	22	1	0	0	0	0	1	0	0	0	8385	1435	50	5	807	5	KLHL1	13	70371050	Missense_Mutation	SNP	T	TCGA-C5-A1MI-01A-11D-A14W-08	24807532	70371050	44798828	63	3287										
THSD4	79875	genome.wustl.edu	37	chr15	71507659	71507659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cagcgctggccggtacggacGccagccgccagggccccacg	15	18	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:71507659G>A	ENST00000355327.3	+	4	519	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	THSD4_ENST00000261862.6_Missense_Mutation_p.A129T			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	129	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGTACGGACGCCAGCCGCCA	0.741																																																	0													2	3	3					15																	71507659		1092	2489	3581	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.385G>A	15.37:g.71507659G>A	ENSP00000347484:p.Ala129Thr		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.A129T	ENST00000355327.3	37	c.385	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832627	0.32421	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.61158	0.13;0.13	4.5	0.0396	0.14205	.	1.561530	0.03796	N	0.263700	T	0.43433	0.1247	L	0.40543	1.245	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.05683	-1.0870	10	0.15499	T	0.54	.	2.4777	0.04580	0.0975:0.1566:0.389:0.3569	.	129	Q6ZMP0	THSD4_HUMAN	T	129	ENSP00000347484:A129T;ENSP00000261862:A129T	ENSP00000261862:A129T	A	+	1	0	THSD4	69294713	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.319000	0.08652	0.491000	0.48974	GCC	THSD4	-	pfscan_Thrombospondin_1_rpt		0.741	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	G	NM_024817		71507659	1	no_errors	ENST00000261862	ensembl	human	known	70_37	missense	SNP	0.000	A	A	71507659	G	A	71507659	3	1	22	1	0	0	0	0	1	0	0	0	15908	1087	38	2	395	2	THSD4	15	71507659	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		71507659	31023733	64	3288										
HCN4	10021	genome.wustl.edu	37	chr15	73616100	73616100	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gcagcctgcagtggtgcctgGatcagcggggtccagatgac	16	11	1	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:73616100G>A	ENST00000261917.3	-	8	3327	c.2334C>T	c.(2332-2334)atC>atT	p.I778I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	778					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGTGCCTGGATCAGCGGGG	0.687																																																	0													27	32	30					15																	73616100		2196	4295	6491	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2334C>T	15.37:g.73616100G>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.I778	ENST00000261917.3	37	c.2334	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.687	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73616100	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	0.997	A	A	73616100	G	A	73616100	2	1	22	1	0	0	0	0	0	0	0	1	7019	1164	41	1		1	HCN4	15	73616100	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	2108441	73616100	28915292	65	3289										
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84373210	84373210	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tttctcctcagggaagttttCtggaagacacaacaggggag	12	8	3	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:84373210C>G	ENST00000286744.5	+	3	363	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L47V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	47						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGTTTTCTGGAAGACAC	0.453																																																	0													199	199	199					15																	84373210		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.139C>G	15.37:g.84373210C>G	ENSP00000286744:p.Leu47Val		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.L47V	ENST00000286744.5	37	c.139	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740504	0.69304	.	.	ENSG00000156218	ENST00000286744	T	0.64803	-0.12	5.56	4.65	0.58169	.	0.510617	0.17348	N	0.177507	T	0.73009	0.3532	L	0.51422	1.61	0.37255	D	0.906723	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.76132	-0.3071	10	0.56958	D	0.05	.	11.5978	0.50984	0.0:0.857:0.0:0.143	.	47;47	P82987-2;P82987	.;ATL3_HUMAN	V	47	ENSP00000286744:L47V	ENSP00000286744:L47V	L	+	1	2	ADAMTSL3	82164214	1.000000	0.71417	0.897000	0.35233	0.986000	0.74619	3.188000	0.50958	1.363000	0.46019	0.655000	0.94253	CTG	ADAMTSL3	-	NULL		0.453	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	C	NM_207517		84373210	1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.988	G	G	84373210	C	G	84373210	3	3	22	1	0	0	0	0	1	0	0	0	276	912	32	1	145	1	ADAMTSL3	15	84373210	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	10757110	84373210	18158182	66	3290										
KIF7	374654	genome.wustl.edu	37	chr15	90171693	90171693	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	caatcatccccgggctggctCgtcgcagttcccgccggggc	13	17	1	0	rs377066237		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:90171693C>G	ENST00000394412.3	-	19	4065	c.3989G>C	c.(3988-3990)cGa>cCa	p.R1330P	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1330			Missing (in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67). {ECO:0000269|PubMed:21633164}.		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGGGCTGGCTCGTCGCAGTTC	0.672																																																	0													39	48	45					15																	90171693		2186	4271	6457	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3989G>C	15.37:g.90171693C>G	ENSP00000377934:p.Arg1330Pro		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1330P	ENST00000394412.3	37	c.3989	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099020	0.56183	.	.	ENSG00000166813	ENST00000394412	T	0.74947	-0.89	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	L	0.32530	0.975	0.38407	D	0.945836	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.916	T	0.81942	-0.0702	10	0.62326	D	0.03	.	13.8321	0.63386	0.0:0.9265:0.0:0.0735	.	816;1330	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	P	1330	ENSP00000377934:R1330P	ENSP00000377934:R1330P	R	-	2	0	KIF7	87972697	0.994000	0.37717	0.102000	0.21198	0.116000	0.19942	4.951000	0.63610	2.635000	0.89317	0.462000	0.41574	CGA	KIF7	-	NULL		0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90171693	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.683	G	G	90171693	C	G	90171693	3	3	22	1	0	0	0	0	1	0	0	0	8329	884	31	1	46	1	KIF7	15	90171693	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	5798483	90171693	12359699	67	3291										
TSC2	7249	genome.wustl.edu	37	chr16	2115600	2115600	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tcggcctccttggaggatgtGaagacagccgtcctggggct	15	11	0	2	rs137854159		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:2115600G>T	ENST00000219476.3	+	16	2310	c.1680G>T	c.(1678-1680)gtG>gtT	p.V560V	TSC2_ENST00000350773.4_Silent_p.V560V|TSC2_ENST00000439673.2_Silent_p.V523V|TSC2_ENST00000568454.1_Silent_p.V571V|TSC2_ENST00000382538.6_Silent_p.V511V|TSC2_ENST00000401874.2_Silent_p.V560V|TSC2_ENST00000353929.4_Silent_p.V560V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	560					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAGGATGTGAAGACAGCCG	0.637			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													98	103	102					16																	2115600		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1680G>T	16.37:g.2115600G>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.V560	ENST00000219476.3	37	c.1680	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2115600	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2115600	G	T	2115600	2	4	22	1	0	0	0	0	0	0	0	1	16637	1277	45	3		3	TSC2	16	2115600	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		2115600	88239153	68	3292										
SMG1	23049	genome.wustl.edu	37	chr16	18937339	18937339	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccgccgccgctgctcagccGagaccccggggctctgcggc	15	19	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:18937339G>T	ENST00000446231.2	-	1	437	c.25C>A	c.(25-27)Cgg>Agg	p.R9R	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Silent_p.R9R|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	9	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ctgcTCAGCCGAGACCCCGGG	0.741																																																	0													3	5	4					16																	18937339		1255	3188	4443	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.25C>A	16.37:g.18937339G>T			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R9	ENST00000446231.2	37	c.25	CCDS45430.1	16																																																																																			SMG1	-	NULL		0.741	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18937339	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18937339	G	T	18937339	2	4	22	1	0	0	0	0	0	0	0	1	14825	1057	37	3		3	SMG1	16	18937339	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	16821739	18937339	71417414	69	3293										
SH2B1	25970	genome.wustl.edu	37	chr16	28884923	28884923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aagagaaagagaaagcgggcGgtggaggggtcccggaagag	20	5	0	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:28884923G>A	ENST00000322610.8	+	11	2492	c.2053G>A	c.(2053-2055)Ggt>Agt	p.G685S	SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	685					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAAAGCGGGCGGTGGAGGGGT	0.667																																																	0													114	165	150					16																	28884923		692	1591	2283	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.2053G>A	16.37:g.28884923G>A	ENSP00000321221:p.Gly685Ser		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.G685S	ENST00000322610.8	37	c.2053	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	3.787	-0.044510	0.07452	.	.	ENSG00000178188	ENST00000322610	T	0.35421	1.31	5.32	-0.583	0.11706	.	1.056440	0.07392	N	0.889235	T	0.14013	0.0339	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45818	-0.9235	10	0.02654	T	1	-25.679	9.4207	0.38550	0.47:0.0:0.53:0.0	.	685	Q9NRF2	SH2B1_HUMAN	S	685	ENSP00000321221:G685S	ENSP00000321221:G685S	G	+	1	0	SH2B1	28792424	0.997000	0.39634	0.998000	0.56505	0.995000	0.86356	0.237000	0.17985	0.056000	0.16144	-0.229000	0.12294	GGT	SH2B1	-	NULL		0.667	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	G	NM_015503		28884923	1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	0.985	A	A	28884923	G	A	28884923	3	1	22	1	0	0	0	0	1	0	0	0	14257	1116	39	2	2240	2	SH2B1	16	28884923	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	9947584	28884923	61469830	70	3294										
GPT2	84706	genome.wustl.edu	37	chr16	46958347	46958347	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ggccaaaaaagcaaagctgaCggaagacctgtttaaccaag	10	9	0	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:46958347C>G	ENST00000340124.4	+	10	1371	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	GPT2_ENST00000440783.2_Missense_Mutation_p.T320R	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	420					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GCAAAGCTGACGGAAGACCTG	0.507																																																	0													118	101	107					16																	46958347		2203	4300	6503	SO:0001583	missense	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1259C>G	16.37:g.46958347C>G	ENSP00000345282:p.Thr420Arg		Q8N9E2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.T420R	ENST00000340124.4	37	c.1259	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002405	0.93227	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.22743	2.11;1.94	4.51	4.51	0.55191	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051217	0.85682	D	0.000000	T	0.51092	0.1654	M	0.88450	2.955	0.80722	D	1	P;D	0.60160	0.853;0.987	P;P	0.61658	0.672;0.892	T	0.63148	-0.6702	10	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	320;420	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	R	420;320	ENSP00000345282:T420R;ENSP00000413804:T320R	ENSP00000345282:T420R	T	+	2	0	GPT2	45515848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.592000	0.82676	2.494000	0.84150	0.655000	0.94253	ACG	GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.507	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46958347	1	no_errors	ENST00000340124	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46958347	C	G	46958347	3	3	22	1	0	0	0	0	1	0	0	0	6758	536	19	2	1293	2	GPT2	16	46958347	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	18073424	46958347	43396406	71	3295										
CBLN1	869	genome.wustl.edu	37	chr16	49313390	49313390	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	aagtttccccgctccagcttGaggtatgctcggtcgccttt	10	13	0	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:49313390G>A	ENST00000219197.6	-	3	872	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CBLN1_ENST00000536749.1_Silent_p.L169L	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	169	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GCTCCAGCTTGAGGTATGCTC	0.602																																																	0													107	103	104					16																	49313390		2200	4300	6500	SO:0001819	synonymous_variant	869			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.507C>T	16.37:g.49313390G>A			B2RAN9|P02682|Q52M09	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L169	ENST00000219197.6	37	c.507	CCDS10736.1	16																																																																																			CBLN1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.602	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	G	NM_004352		49313390	-1	no_errors	ENST00000219197	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49313390	G	A	49313390	2	1	22	1	0	0	0	0	0	0	0	1	2709	1277	45	1		1	CBLN1	16	49313390	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	2355043	49313390	41041363	72	3296										
FHOD1	29109	genome.wustl.edu	37	chr16	67271211	67271211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cccaggtggcgctggaccagCgcttccatgccctgctgctc	12	17	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:67271211C>T	ENST00000258201.4	-	9	1171	c.924G>A	c.(922-924)gcG>gcA	p.A308A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	308	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.			EA -> DT (in Ref. 1; AAD39906 and 3; AAO38757). {ECO:0000305}.	positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCTGGACCAGCGCTTCCATGC	0.662																																																	0													43	45	45					16																	67271211		2198	4300	6498	SO:0001819	synonymous_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.924G>A	16.37:g.67271211C>T			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A308	ENST00000258201.4	37	c.924	CCDS10834.1	16																																																																																			FHOD1	-	superfamily_ARM-type_fold		0.662	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67271211	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	silent	SNP	0.000	T	T	67271211	C	T	67271211	2	4	22	1	0	0	0	0	0	0	0	1	5900	755	27	2		2	FHOD1	16	67271211	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	17957821	67271211	23083542	73	3297										
ATP2C2	9914	genome.wustl.edu	37	chr16	84497327	84497327	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	agagagtccagatgcaccctGaagatgtgtagtggaccgca	13	9	0	4			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:84497327G>A	ENST00000262429.4	+	27	2919	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.E973K	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	944					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGCACCCTGAAGATGTGTA	0.512																																																	0													115	123	120					16																	84497327		1981	4151	6132	SO:0001583	missense	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2830G>A	16.37:g.84497327G>A	ENSP00000262429:p.Glu944Lys		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E944K	ENST00000262429.4	37	c.2830	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301706	0.40694	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.92858	-3.12;-3.11	4.81	3.85	0.44370	.	.	.	.	.	D	0.83649	0.5300	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B	0.37330	0.546;0.18;0.058;0.59;0.155	B;B;B;B;B	0.33690	0.115;0.025;0.037;0.168;0.051	T	0.74312	-0.3706	9	0.41790	T	0.15	.	6.5599	0.22481	0.0991:0.1837:0.7172:0.0	.	973;793;793;961;944	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	K	973;944;793	ENSP00000397925:E973K;ENSP00000262429:E944K	ENSP00000262429:E944K	E	+	1	0	ATP2C2	83054828	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.104000	0.15313	1.016000	0.39470	0.650000	0.86243	GAA	ATP2C2	-	NULL		0.512	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	G	NM_014861		84497327	1	no_errors	ENST00000262429	ensembl	human	known	70_37	missense	SNP	0.001	A	A	84497327	G	A	84497327	3	1	22	1	0	0	0	0	1	0	0	0	1145	1291	45	1	2936	1	ATP2C2	16	84497327	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	17226116	84497327	5857426	74	3298										
GALNS	2588	genome.wustl.edu	37	chr16	88891256	88891256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gtggccgccatcagcgtgtcGccacggtaatagaagatagg	14	10	1	2	rs376919708		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:88891256G>A	ENST00000268695.5	-	11	1249	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	GALNS_ENST00000542788.1_Silent_p.G312G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.G387G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCAGCGTGTCGCCACGGTAAT	0.617																																					GBM(129;1929 2344 25209 33204)												1	Substitution - coding silent(1)	kidney(1)						G		0,4396		0,0,2198	93	76	82		1161	-1	0.9	16		82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GALNS	NM_000512.4		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		387/523	88891256	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1161C>T	16.37:g.88891256G>A			Q86VK3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G387	ENST00000268695.5	37	c.1161	CCDS10970.1	16																																																																																			GALNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	G			88891256	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	silent	SNP	0.998	A	A	88891256	G	A	88891256	2	1	22	1	0	0	0	0	0	0	0	1	6225	1074	38	2		2	GALNS	16	88891256	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	4393929	88891256	1463497	75	3299										
ANKFY1	51479	genome.wustl.edu	37	chr17	4077219	4077219	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gttaccattgtttccattctCatccacggcagcaaagtcca	6	13	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:4077219C>T	ENST00000341657.4	-	20	2943	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	ANKFY1_ENST00000574367.1_Missense_Mutation_p.E971K|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.E1012K	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	970					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTTCCATTCTCATCCACGGCA	0.567																																																	0													133	139	137					17																	4077219		2109	4227	6336	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2908G>A	17.37:g.4077219C>T	ENSP00000343362:p.Glu970Lys		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.E1012K	ENST00000341657.4	37	c.3034		17	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407858	0.62399	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.13235	0.315	0.80722	D	1	D;D;P;P	0.55605	0.972;0.961;0.952;0.952	P;P;P;P	0.53224	0.616;0.721;0.6;0.6	T	0.31166	-0.9953	9	0.02654	T	1	-24.8722	18.486	0.90830	0.0:1.0:0.0:0.0	.	912;970;971;1012	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	K	971;912	.	ENSP00000343362:E971K	E	-	1	0	ANKFY1	4023968	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.786000	0.85741	2.608000	0.88229	0.462000	0.41574	GAG	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4077219	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4077219	C	T	4077219	3	4	22	1	0	0	0	0	1	0	0	0	626	835	29	1	625	1	ANKFY1	17	4077219	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		4077219	77117991	76	3300										
RAI1	10743	genome.wustl.edu	37	chr17	17696863	17696863	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	agaacgacattgcctcccctCtgcccttcccccagggtacc	7	19	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:17696863C>G	ENST00000353383.1	+	3	1070	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	RAI1_ENST00000261641.6_Missense_Mutation_p.L201V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	201	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCTCCCCTCTGCCCTTCCC	0.652																																																	0													70	67	68					17																	17696863		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.601C>G	17.37:g.17696863C>G	ENSP00000323074:p.Leu201Val		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.L201V	ENST00000353383.1	37	c.601	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312870	0.23908	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.68479	-0.33;2.4;0.27	4.33	2.13	0.27403	.	0.244264	0.28109	N	0.016564	T	0.54415	0.1857	L	0.61218	1.895	0.30744	N	0.745875	B	0.30406	0.278	B	0.27887	0.084	T	0.48758	-0.9007	10	0.15066	T	0.55	.	6.5594	0.22478	0.2714:0.6181:0.0:0.1105	.	201	Q7Z5J4	RAI1_HUMAN	V	201	ENSP00000323074:L201V;ENSP00000379120:L201V;ENSP00000261641:L201V	ENSP00000261641:L201V	L	+	1	2	RAI1	17637588	0.690000	0.27699	0.722000	0.30670	0.645000	0.38454	1.313000	0.33585	0.822000	0.34565	0.313000	0.20887	CTG	RAI1	-	NULL		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	C	NM_030665		17696863	1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.861	G	G	17696863	C	G	17696863	3	3	22	1	0	0	0	0	1	0	0	0	13037	912	32	1	603	1	RAI1	17	17696863	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	13619644	17696863	63498347	77	3301										
ABCA5	23461	genome.wustl.edu	37	chr17	67261034	67261034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	acctgaaagtttaagttgagTataagctttgatctaaaaaa	7	4	1	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:67261034T>C	ENST00000392676.3	-	24	3221	c.3157A>G	c.(3157-3159)Act>Gct	p.T1053A	ABCA5_ENST00000588877.1_Missense_Mutation_p.T1053A|ABCA5_ENST00000392677.2_Missense_Mutation_p.T1054A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1053					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTAAGTTGAGTATAAGCTTTG	0.264																																																	0													52	54	53					17																	67261034		2203	4296	6499	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3157A>G	17.37:g.67261034T>C	ENSP00000376443:p.Thr1053Ala		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1054A	ENST00000392676.3	37	c.3160	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217772	0.39201	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86562	-2.14;-2.14	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000019	D	0.82591	0.5070	L	0.45137	1.4	0.42507	D	0.992956	P	0.41498	0.752	B	0.41988	0.372	T	0.81387	-0.0956	9	.	.	.	.	10.3841	0.44129	0.1461:0.0:0.0:0.8539	.	1053	Q8WWZ7	ABCA5_HUMAN	A	1054;1053	ENSP00000376444:T1054A;ENSP00000376443:T1053A	.	T	-	1	0	ABCA5	64772629	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.359000	0.66074	2.043000	0.60533	0.379000	0.24179	ACT	ABCA5	-	NULL		0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	T	NM_018672		67261034	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67261034	T	C	67261034	3	2	22	1	0	0	0	0	1	0	0	0	35	1638	57	5	1835	5	ABCA5	17	67261034	Missense_Mutation	SNP	T	TCGA-C5-A1MI-01A-11D-A14W-08	49564171	67261034	13934176	78	3302										
BAHCC1	57597	genome.wustl.edu	37	chr17	79411745	79411745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccccccggcttccccgcctCcgtggctggccctgtgccct	11	22	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:79411745C>A	ENST00000307745.7	+	12	2564	c.2564C>A	c.(2563-2565)tCc>tAc	p.S855Y																								TTCCCCGCCTCCGTGGCTGGC	0.721																																																	0													28	37	34					17																	79411745		2007	4146	6153	SO:0001583	missense	57597																														ENST00000307745.7:c.2564C>A	17.37:g.79411745C>A	ENSP00000303486:p.Ser855Tyr			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S855Y	ENST00000307745.7	37	c.2564		17	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079644	0.55753	.	.	ENSG00000171282	ENST00000307745	T	0.55234	0.53	4.63	4.63	0.57726	.	0.154279	0.30850	N	0.008752	T	0.67325	0.2881	L	0.57536	1.79	0.44871	D	0.997888	D;D	0.71674	0.989;0.998	P;D	0.63381	0.726;0.914	T	0.70784	-0.4778	10	0.62326	D	0.03	.	17.2677	0.87092	0.0:1.0:0.0:0.0	.	855;855	Q9P281;F8WBW8	BAHC1_HUMAN;.	Y	855	ENSP00000303486:S855Y	ENSP00000303486:S855Y	S	+	2	0	AC110285.1	77026340	0.543000	0.26434	0.065000	0.19835	0.073000	0.16967	5.314000	0.65804	2.381000	0.81170	0.491000	0.48974	TCC	BAHCC1	-	NULL		0.721	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		C			79411745	1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.981	A	A	79411745	C	A	79411745	3	1	22	1	0	0	0	0	1	0	0	0	1297	855	30	3	2425	3	BAHCC1	17	79411745	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	12150711	79411745	1783465	79	3303										
ARID3A	1820	genome.wustl.edu	37	chr19	964968	964968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ggctccctctttgcctactcGccaggcggggcacacggcat	12	16	1	0	rs374271087		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:964968G>A	ENST00000263620.3	+	6	1413	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	362						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCTACTCGCCAGGCGGGG	0.667																																					Pancreas(29;54 1022 32760 50921)												0								G		0,4406		0,0,2203	66	63	64		1086	-8.9	0.1	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARID3A	NM_005224.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		362/594	964968	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1086G>A	19.37:g.964968G>A			Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S362	ENST00000263620.3	37	c.1086	CCDS12050.1	19																																																																																			ARID3A	-	NULL		0.667	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	G	NM_005224		964968	1	no_errors	ENST00000263620	ensembl	human	known	70_37	silent	SNP	0.114	A	A	964968	G	A	964968	2	1	22	1	0	0	0	0	0	0	0	1	916	1074	38	2		2	ARID3A	19	964968	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		964968	58164015	80	3304										
C19orf28	126321	genome.wustl.edu	37	chr19	3550984	3550984	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gggtgcccaggctcccacctGagtgccgtgagctccacctt	12	16	0	2			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:3550984G>T	ENST00000355415.2	-	2	676	c.507C>A	c.(505-507)ctC>ctA	p.L169L	MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Silent_p.L169L|MFSD12_ENST00000389395.3_Silent_p.L169L|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	169					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCTCCCACCTGAGTGCCGTGA	0.637																																																	0													14	16	15					19																	3550984		1957	4125	6082	SO:0001819	synonymous_variant	126321			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.507C>A	19.37:g.3550984G>T			A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L169	ENST00000355415.2	37	c.507	CCDS42465.1	19																																																																																			MFSD12	-	superfamily_MFS_dom_general_subst_transpt		0.637	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	G	NM_174983		3550984	-1	no_errors	ENST00000398558	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3550984	G	T	3550984	2	4	22	1	0	0	0	0	0	0	0	1	1922	1277	45	3		3	C19orf28	19	3550984	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	2586016	3550984	55577999	81	3305										
APBA3	9546	genome.wustl.edu	37	chr19	3760026	3760026	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gcaatgtgtaggggacagggGgctccacctggggatgggcc	19	9	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:3760026G>T	ENST00000316757.3	-	2	437	c.237C>A	c.(235-237)gcC>gcA	p.A79A	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	79					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGACAGGGGGCTCCACCTG	0.632																																																	0													39	42	41					19																	3760026		2203	4300	6503	SO:0001819	synonymous_variant	9546			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.237C>A	19.37:g.3760026G>T			O60483|Q9UPZ2	Silent	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.A79	ENST00000316757.3	37	c.237	CCDS12110.1	19																																																																																			APBA3	-	NULL		0.632	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	HGNC	protein_coding	OTTHUMT00000453634.2	G			3760026	-1	no_errors	ENST00000316757	ensembl	human	known	70_37	silent	SNP	0.355	T	T	3760026	G	T	3760026	2	4	22	1	0	0	0	0	0	0	0	1	758	1219	43	4		4	APBA3	19	3760026	Silent	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	209042	3760026	55368957	82	3306										
SMARCA4	6597	genome.wustl.edu	37	chr19	11134251	11134251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ggcgtctccacaaagtgctgCggcccttcttgctccgacga	11	15	2	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:11134251C>T	ENST00000429416.3	+	21	3198	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R973W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R973W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R973W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R973W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R973W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R973W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R973W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R973W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	973					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAAAGTGCTGCGGCCCTTCTT	0.562			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											63	57	59					19																	11134251		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2917C>T	19.37:g.11134251C>T	ENSP00000395654:p.Arg973Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R973W	ENST00000429416.3	37	c.2917	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.075406	0.94000	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	-35.1424	16.9975	0.86372	0.0:1.0:0.0:0.0	.	973;973;973;973;973;193;973;973	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	973;973;1037;973;973;973;973;973	ENSP00000395654:R973W;ENSP00000350720:R973W;ENSP00000343896:R973W;ENSP00000445036:R973W;ENSP00000392837:R973W;ENSP00000397783:R973W;ENSP00000414727:R973W	ENSP00000343896:R973W	R	+	1	2	SMARCA4	10995251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.626000	0.61269	2.542000	0.85734	0.655000	0.94253	CGG	SMARCA4	-	pfam_SNF2_N		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11134251	1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11134251	C	T	11134251	3	4	22	1	0	0	0	0	1	0	0	0	14800	759	27	2	2991	2	SMARCA4	19	11134251	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	7374225	11134251	47994732	83	3307										
CD97	976	genome.wustl.edu	37	chr19	14516688	14516688	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	accaccatacacctgcacctCtgcatctgcctcttcgtggg	7	17	3	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:14516688C>G	ENST00000242786.5	+	14	1838	c.1758C>G	c.(1756-1758)ctC>ctG	p.L586L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L493L|CD97_ENST00000357355.3_Silent_p.L537L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	586					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCTGCACCTCTGCATCTGCC	0.652																																																	0													109	80	90					19																	14516688		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1758C>G	19.37:g.14516688C>G			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L586	ENST00000242786.5	37	c.1758	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14516688	1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.998	G	G	14516688	C	G	14516688	2	3	22	1	0	0	0	0	0	0	0	1	3054	900	32	1		1	CD97	19	14516688	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	3382437	14516688	44612295	84	3308										
HNRNPL	3191	genome.wustl.edu	37	chr19	39330948	39330948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tggacccatccttctcccttCgtagtgaggtggggggggcc	15	12	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:39330948C>T	ENST00000221419.5	-	8	1387	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	HNRNPL_ENST00000600873.1_Missense_Mutation_p.E208K|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	341	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTTCTCCCTTCGTAGTGAGGT	0.687																																																	0													8	11	10					19																	39330948		1850	3560	5410	SO:0001583	missense	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1021G>A	19.37:g.39330948C>T	ENSP00000221419:p.Glu341Lys		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E341K	ENST00000221419.5	37	c.1021	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830769	0.32329	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	T	0.45668	0.89	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.54323	1.7	0.58432	D	0.999997	B	0.23806	0.091	B	0.17433	0.018	T	0.21245	-1.0251	10	0.12103	T	0.63	.	17.4286	0.87533	0.0:1.0:0.0:0.0	.	341	P14866	HNRPL_HUMAN	K	341;208;208	ENSP00000221419:E341K	ENSP00000221419:E341K	E	-	1	0	HNRNPL	44022788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.706000	0.61845	2.652000	0.90054	0.555000	0.69702	GAA	HNRNPL	-	tigrfam_HnRNP-L_PTB		0.687	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	C			39330948	-1	no_errors	ENST00000221419	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39330948	C	T	39330948	3	4	22	1	0	0	0	0	1	0	0	0	7290	893	31	1	772	1	HNRNPL	19	39330948	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	24814260	39330948	19798035	85	3309										
PPFIA3	8541	genome.wustl.edu	37	chr19	49652821	49652821	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	taggacagcgccaagtctttCagccgctccccatcctggcg	10	16	2	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:49652821C>T	ENST00000334186.4	+	28	3721	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	PPFIA3_ENST00000602351.1_Silent_p.F1115F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1124					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGTCTTTCAGCCGCTCCC	0.622																																																	0													38	38	38					19																	49652821		2203	4300	6503	SO:0001819	synonymous_variant	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3372C>T	19.37:g.49652821C>T			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.F1124	ENST00000334186.4	37	c.3372	CCDS12758.1	19																																																																																			PPFIA3	-	NULL		0.622	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	C	NM_003660		49652821	1	no_errors	ENST00000334186	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49652821	C	T	49652821	2	4	22	1	0	0	0	0	0	0	0	1	12335	825	29	1		1	PPFIA3	19	49652821	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	10321873	49652821	9476162	86	3310										
PTH2	113091	genome.wustl.edu	37	chr19	49926559	49926559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gcagcagcagcagcagcagcCgaacccgagggctcctggac	14	15	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:49926559C>A	ENST00000270631.1	-	1	139	c.38G>T	c.(37-39)cGg>cTg	p.R13L	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	13					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		cagcagcagcCGAACCCGAGG	0.706																																																	0													10	13	12					19																	49926559		2089	4123	6212	SO:0001583	missense	113091			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"Endogenous ligands"	30828	protein-coding gene	gene with protein product	"tuberoinfundibular 39 residues"	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.38G>T	19.37:g.49926559C>A	ENSP00000270631:p.Arg13Leu		Q96DJ4	Missense_Mutation	SNP	NULL	p.R13L	ENST00000270631.1	37	c.38	CCDS12763.1	19	.	.	.	.	.	.	.	.	.	.	c	21.5	4.160118	0.78226	.	.	ENSG00000142538	ENST00000270631	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	T	0.50103	0.1596	N	0.24115	0.695	0.33068	D	0.534978	D	0.56968	0.978	P	0.59487	0.858	T	0.62751	-0.6788	8	0.87932	D	0	-6.7249	12.652	0.56766	0.0:1.0:0.0:0.0	.	13	Q96A98	TIP39_HUMAN	L	13	.	ENSP00000270631:R13L	R	-	2	0	PTH2	54618371	0.854000	0.29725	0.866000	0.34008	0.685000	0.39939	-0.051000	0.11885	2.112000	0.64535	0.457000	0.33378	CGG	PTH2	-	NULL		0.706	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2	HGNC	protein_coding	OTTHUMT00000465366.1	C	NM_178449		49926559	-1	no_errors	ENST00000270631	ensembl	human	known	70_37	missense	SNP	0.979	A	A	49926559	C	A	49926559	3	1	22	1	0	0	0	0	1	0	0	0	12787	652	23	2	272	2	PTH2	19	49926559	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	273738	49926559	9202424	87	3311										
TSKS	60385	genome.wustl.edu	37	chr19	50250006	50250006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cctgcagctcggcctcctgcCgtcgcggcgtctcatcctgc	11	19	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:50250006C>T	ENST00000246801.3	-	6	795	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	TSKS_ENST00000358830.3_Missense_Mutation_p.R38Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	238					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ggcctcctgccgtcgcggcgt	0.677																																																	0													16	16	16					19																	50250006		2187	4255	6442	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.713G>A	19.37:g.50250006C>T	ENSP00000246801:p.Arg238Gln		Q8WXJ0	Missense_Mutation	SNP	NULL	p.R238Q	ENST00000246801.3	37	c.713	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	-	23.0	4.363357	0.82353	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.47528	0.84;0.84	4.78	4.78	0.61160	.	0.129283	0.33834	N	0.004508	T	0.44871	0.1314	L	0.29908	0.895	0.33092	D	0.538102	D	0.64830	0.994	P	0.51229	0.663	T	0.55730	-0.8095	10	0.38643	T	0.18	-15.0987	13.1733	0.59611	0.0:1.0:0.0:0.0	.	238	Q9UJT2	TSKS_HUMAN	Q	238;38	ENSP00000246801:R238Q;ENSP00000351691:R38Q	ENSP00000246801:R238Q	R	-	2	0	TSKS	54941818	0.997000	0.39634	0.982000	0.44146	0.511000	0.34104	3.218000	0.51192	2.472000	0.83506	0.591000	0.81541	CGG	TSKS	-	NULL		0.677	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50250006	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	0.975	T	T	50250006	C	T	50250006	3	4	22	1	0	0	0	0	1	0	0	0	16657	652	23	2	1089	2	TSKS	19	50250006	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	323447	50250006	8878977	88	3312										
SIGLEC11	114132	genome.wustl.edu	37	chr19	50462671	50462671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gccaagcctgttctccgctcGgcaggtgtagcgccctgaat	12	14	1	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:50462671G>C	ENST00000447370.2	-	5	1093	c.1003C>G	c.(1003-1005)Cga>Gga	p.R335G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R335G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	335	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTCTCCGCTCGGCAGGTGTAG	0.672																																																	0													26	39	35					19																	50462671		1950	4288	6238	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1003C>G	19.37:g.50462671G>C	ENSP00000412361:p.Arg335Gly			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R335G	ENST00000447370.2	37	c.1003	CCDS12790.2	19	.	.	.	.	.	.	.	.	.	.	G	9.405	1.079126	0.20227	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.68181	-0.31	1.61	1.61	0.23674	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.161780	0.06593	N	0.752380	T	0.81740	0.4886	M	0.87269	2.87	0.25548	N	0.98712	D;D	0.71674	0.994;0.998	D;D	0.73380	0.973;0.98	T	0.62210	-0.6902	10	0.48119	T	0.1	.	6.7557	0.23512	0.0:0.0:1.0:0.0	.	335;335	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	335	ENSP00000412361:R335G	ENSP00000412361:R335G	R	-	1	2	SIGLEC11	55154483	0.050000	0.20438	0.941000	0.38009	0.072000	0.16883	0.131000	0.15870	1.204000	0.43247	0.650000	0.86243	CGA	SIGLEC11	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.672	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	G	NM_052884		50462671	-1	no_errors	ENST00000447370	ensembl	human	known	70_37	missense	SNP	0.974	C	C	50462671	G	C	50462671	3	2	22	1	0	0	0	0	1	0	0	0	14337	1124	39	2	1121	2	SIGLEC11	19	50462671	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	212665	50462671	8666312	89	3313										
SIGLEC10	89790	genome.wustl.edu	37	chr19	51918103	51918103	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	agctgcaggatggatccactCtgggccccatggacgttcca	12	13	1	0	rs145601049		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:51918103C>G	ENST00000339313.5	-	8	1706	c.1590G>C	c.(1588-1590)caG>caC	p.Q530H	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q472H|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q530H|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	530					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGATCCACTCTGGGCCCCAT	0.657													c|||	1	0.000199681	0	0	5008	,	,		15826	0		0	False		,,,				2504	0.001																0								C	HIS/GLN,,,,,,HIS/GLN	0,4406		0,0,2203	58	69	65		1416,,,,,,1590	3.8	0.1	19	dbSNP_134	65	9,8591		0,9,4291	yes	missense,intron,intron,intron,intron,intron,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	24,,,,,,24	0,9,6494	GG,GC,CC		0.1047,0.0,0.0692	benign,,,,,,benign	472/640,,,,,,530/698	51918103	9,12997	2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1590G>C	19.37:g.51918103C>G	ENSP00000345243:p.Gln530His		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q530H	ENST00000339313.5	37	c.1590	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	14.69	2.610318	0.46527	0.0	0.001047	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.86865	-2.18;-2.18;-2.18	4.83	3.79	0.43588	.	0.613774	0.15087	N	0.281307	D	0.87200	0.6118	L	0.48174	1.505	0.26254	N	0.978672	D;P	0.55172	0.97;0.553	P;B	0.53224	0.721;0.256	T	0.78484	-0.2186	10	0.52906	T	0.07	.	9.8382	0.40982	0.0:0.6096:0.3904:0.0	.	472;530	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	H	530;472;530	ENSP00000348646:Q530H;ENSP00000389132:Q472H;ENSP00000345243:Q530H	ENSP00000345243:Q530H	Q	-	3	2	SIGLEC10	56609915	0.015000	0.18098	0.126000	0.21872	0.016000	0.09150	0.503000	0.22610	0.961000	0.38030	0.561000	0.74099	CAG	SIGLEC10	-	NULL		0.657	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51918103	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.637	G	G	51918103	C	G	51918103	3	3	22	1	0	0	0	0	1	0	0	0	14336	912	32	1	519	1	SIGLEC10	19	51918103	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	1455432	51918103	7210880	90	3314										
GNRH2	2797	genome.wustl.edu	37	chr20	3025090	3025090	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tccaggcgaggcctcctgctCctgctgctgctgactgccca	11	17	0	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:3025090C>G	ENST00000245983.2	+	2	81	c.30C>G	c.(28-30)ctC>ctG	p.L10L	GNRH2_ENST00000359987.1_Silent_p.L10L|GNRH2_ENST00000380346.2_Silent_p.L10L|GNRH2_ENST00000359100.2_Silent_p.L10L|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380347.2_Silent_p.L10L	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	10					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						GCCTCCTGCTCCTGCTGCTGC	0.617																																																	0													69	69	69					20																	3025090		2203	4300	6503	SO:0001819	synonymous_variant	2797			AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"Endogenous ligands"	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.30C>G	20.37:g.3025090C>G			Q14C68|Q14C69|Q9BYN9|Q9BYP0	Silent	SNP	pfam_GnRH	p.L10	ENST00000245983.2	37	c.30	CCDS13040.1	20																																																																																			GNRH2	-	NULL		0.617	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNRH2	HGNC	protein_coding	OTTHUMT00000077694.2	C	NM_001501		3025090	1	no_errors	ENST00000245983	ensembl	human	known	70_37	silent	SNP	0.004	G	G	3025090	C	G	3025090	2	3	22	1	0	0	0	0	0	0	0	1	6567	842	30	1		1	GNRH2	20	3025090	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		3025090	60000430	91	3315										
POLR3F	10621	genome.wustl.edu	37	chr20	18455810	18455810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ctggaaagtaaaaagcttatCaaagctgttaagtctgtagc	9	6	2	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:18455810C>G	ENST00000377603.4	+	5	788	c.408C>G	c.(406-408)atC>atG	p.I136M	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	136					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						AAAAGCTTATCAAAGCTGTTA	0.328																																					GBM(69;898 1468 19907 52011)												0													48	51	50					20																	18455810		2203	4295	6498	SO:0001583	missense	10621			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"RNA polymerase subunits"	15763	protein-coding gene	gene with protein product	"RNA polymerase III C39 subunit"		"polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.408C>G	20.37:g.18455810C>G	ENSP00000366828:p.Ile136Met		A8K4C7|O15319	Missense_Mutation	SNP	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34	p.I136M	ENST00000377603.4	37	c.408	CCDS13135.1	20	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090141	0.55968	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.93	1.72	0.24424	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.045277	0.85682	D	0.000000	T	0.78142	0.4237	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74662	-0.3590	9	0.66056	D	0.02	.	5.7231	0.17998	0.1227:0.4449:0.0:0.4324	.	136	Q9H1D9	RPC6_HUMAN	M	136	.	ENSP00000366828:I136M	I	+	3	3	POLR3F	18403810	0.797000	0.28877	0.998000	0.56505	0.987000	0.75469	-0.031000	0.12287	0.086000	0.17137	-0.345000	0.07892	ATC	POLR3F	-	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34		0.328	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	C	NM_006466		18455810	1	no_errors	ENST00000377603	ensembl	human	known	70_37	missense	SNP	0.994	G	G	18455810	C	G	18455810	3	3	22	1	0	0	0	0	1	0	0	0	12257	816	29	1	426	1	POLR3F	20	18455810	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	15430720	18455810	44569710	92	3316										
DTD1	92675	genome.wustl.edu	37	chr20	18576746	18576746	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cagtacgagattctgtgtgtCagccagtttaccctccagtg	10	11	2	1			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:18576746C>A	ENST00000377452.3	+	3	411	c.231C>A	c.(229-231)gtC>gtA	p.V77V	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	77					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						TTCTGTGTGTCAGCCAGTTTA	0.507																																																	0													129	106	113					20																	18576746		2203	4300	6503	SO:0001819	synonymous_variant	92675			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.231C>A	20.37:g.18576746C>A			A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls	p.V77	ENST00000377452.3	37	c.231	CCDS13138.1	20																																																																																			DTD1	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls		0.507	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD1	HGNC	protein_coding	OTTHUMT00000078189.3	C	NM_080820		18576746	1	no_errors	ENST00000377452	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18576746	C	A	18576746	2	1	22	1	0	0	0	0	0	0	0	1	4796	813	29	3		3	DTD1	20	18576746	Silent	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	120936	18576746	44448774	93	3317										
BRD1	23774	genome.wustl.edu	37	chr22	50191531	50191531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	ccccgaggcctcttccaagcCgatgctgtccacctcgcgcc	9	20	1	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr22:50191531C>T	ENST00000216267.8	-	5	2506	c.2020G>A	c.(2020-2022)Ggc>Agc	p.G674S	BRD1_ENST00000542442.1_Missense_Mutation_p.G362S|BRD1_ENST00000457780.2_Missense_Mutation_p.G674S|BRD1_ENST00000404034.1_Missense_Mutation_p.G674S|BRD1_ENST00000404760.1_Missense_Mutation_p.G674S|BRD1_ENST00000342989.5_Missense_Mutation_p.G269S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	674					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTTCCAAGCCGATGCTGTCC	0.662																																																	0													40	39	39					22																	50191531		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2020G>A	22.37:g.50191531C>T	ENSP00000216267:p.Gly674Ser		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.G674S	ENST00000216267.8	37	c.2020	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941032	0.92526	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.29655	2.49;2.49;2.38;2.21;1.56;1.75	5.44	5.44	0.79542	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.65253	-0.6213	10	0.41790	T	0.15	.	19.2518	0.93926	0.0:1.0:0.0:0.0	.	674;269;674;674	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	674;674;674;674;362;269;134	ENSP00000216267:G674S;ENSP00000384076:G674S;ENSP00000385858:G674S;ENSP00000410042:G674S;ENSP00000437514:G362S;ENSP00000345886:G269S	ENSP00000216267:G674S	G	-	1	0	BRD1	48577535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.549000	0.82163	2.546000	0.85860	0.655000	0.94253	GGC	BRD1	-	superfamily_Bromodomain		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	C	NM_014577		50191531	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50191531	C	T	50191531	3	4	22	1	0	0	0	0	1	0	0	0	1504	652	23	2	1188	2	BRD1	22	50191531	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08		50191531	1113035	94	3318										
AIFM1	9131	genome.wustl.edu	37	chrX	129299534	129299534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	gggtcagtcacctgggagccGgttcctctgcctcgggcttc	14	14	3	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:129299534G>A	ENST00000287295.3	-	1	327	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W|AIFM1_ENST00000535724.1_5'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCTGGGAGCCGGTTCCTCTGC	0.672																																																	0													48	32	37					X																	129299534		2199	4291	6490	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.97C>T	X.37:g.129299534G>A	ENSP00000287295:p.Arg33Trp		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase	p.R33W	ENST00000287295.3	37	c.97	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421499	0.83559	.	.	ENSG00000156709	ENST00000346424;ENST00000319908;ENST00000287295	T;T;T	0.52057	0.68;0.98;0.98	4.67	4.67	0.58626	.	0.163432	0.53938	D	0.000048	T	0.57681	0.2070	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.998	P;B;P;P	0.59221	0.818;0.272;0.854;0.784	T	0.61461	-0.7058	10	0.87932	D	0	-3.9738	11.8814	0.52578	0.0:0.0:1.0:0.0	.	33;33;33;33	Q1L6K6;O95831-2;O95831-3;O95831	.;.;.;AIFM1_HUMAN	W	33	ENSP00000316320:R33W;ENSP00000315122:R33W;ENSP00000287295:R33W	ENSP00000287295:R33W	R	-	1	2	AIFM1	129127215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.010000	0.49559	2.289000	0.77006	0.600000	0.82982	CGG	AIFM1	-	NULL		0.672	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	HGNC	protein_coding	OTTHUMT00000058247.2	G			129299534	-1	no_errors	ENST00000287295	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129299534	G	A	129299534	3	1	22	1	0	0	0	0	1	0	0	0	426	1115	39	2	1955	2	AIFM1	23	129299534	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08		129299534	25971026	95	3319										
ZNF75D	7626	genome.wustl.edu	37	chrX	134421467	134421467	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	tctgtggtgtttaataagatCagagctaactctgaagcttt	9	6	3	3			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:134421467C>T	ENST00000370766.3	-	7	3844	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D284N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	379					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTAATAAGATCAGAGCTAACT	0.408																																																	0													63	58	60					X																	134421467		2203	4299	6502	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1135G>A	X.37:g.134421467C>T	ENSP00000359802:p.Asp379Asn		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D379N	ENST00000370766.3	37	c.1135	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281775	0.23392	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.36340	5.46;1.26	3.1	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.430031	0.17134	N	0.185740	T	0.11836	0.0288	N	0.01751	-0.74	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.20384	0.029;0.029	T	0.33624	-0.9861	10	0.13108	T	0.6	.	6.5773	0.22573	0.0:0.7339:0.0:0.2661	.	379;284	P51815;A6NK62	ZN75D_HUMAN;.	N	379;284	ENSP00000359802:D379N;ENSP00000359800:D284N	ENSP00000359800:D284N	D	-	1	0	ZNF75D	134249133	0.000000	0.05858	0.022000	0.16811	0.803000	0.45373	-1.446000	0.02398	0.215000	0.20761	0.422000	0.28245	GAT	ZNF75D	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	C	NM_007131		134421467	-1	no_errors	ENST00000370766	ensembl	human	known	70_37	missense	SNP	0.001	T	T	134421467	C	T	134421467	3	4	22	1	0	0	0	0	1	0	0	0	18164	826	29	1	401	1	ZNF75D	23	134421467	Missense_Mutation	SNP	C	TCGA-C5-A1MI-01A-11D-A14W-08	5121933	134421467	20849093	96	3320										
BGN	633	genome.wustl.edu	37	chrX	152771463	152771463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.216494845360825	21	6.93395151390652e-07	3.46886716165552	5.37399103139013	2.84763111717684	0.264073590265009	0.516296756782419	15	cagctccctggtggagctccGcatccacgacaaccgcatcc	9	18	0	0			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:152771463G>A	ENST00000331595.4	+	4	680	c.494G>A	c.(493-495)cGc>cAc	p.R165H	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	165					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAGCTCCGCATCCACGAC	0.607																																																	0													59	51	54					X																	152771463		2203	4300	6503	SO:0001583	missense	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.494G>A	X.37:g.152771463G>A	ENSP00000327336:p.Arg165His		D3DWU3|P13247	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R165H	ENST00000331595.4	37	c.494	CCDS14721.1	X	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909018	0.92107	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;T;T	0.61158	0.41;0.13;0.41	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74836	-0.3529	10	0.87932	D	0	-26.7828	15.9023	0.79387	0.0:0.0:1.0:0.0	.	165	P21810	PGS1_HUMAN	H	165;182;104;104	ENSP00000327336:R165H;ENSP00000402525:R182H;ENSP00000359223:R104H	ENSP00000327336:R165H	R	+	2	0	BGN	152424657	1.000000	0.71417	0.984000	0.44739	0.929000	0.56500	9.461000	0.97646	2.088000	0.63022	0.523000	0.50628	CGC	BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan		0.607	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	G	NM_001711		152771463	1	no_errors	ENST00000331595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152771463	G	A	152771463	3	1	22	1	0	0	0	0	1	0	0	0	1419	1087	38	2	504	2	BGN	23	152771463	Missense_Mutation	SNP	G	TCGA-C5-A1MI-01A-11D-A14W-08	18349996	152771463	2499097	97	3321										
TCEB3	6924	genome.wustl.edu	37	chr1	24078184	24078184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctgttgcccaaggtaaaagaGaagggttctaacaacctaaa	9	8	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:24078184G>C	ENST00000418390.2	+	4	1438	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D	TCEB3_ENST00000609199.1_Missense_Mutation_p.E363D	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	389					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGGTAAAAGAGAAGGGTTCTA	0.458											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	99	96					1																	24078184		2203	4300	6503	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1167G>C	1.37:g.24078184G>C	ENSP00000395574:p.Glu389Asp	768	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.E389D	ENST00000418390.2	37	c.1167	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	7.424	0.637313	0.14386	.	.	ENSG00000011007	ENST00000418390	T	0.11169	2.8	5.64	2.71	0.32032	.	0.489229	0.20442	N	0.092280	T	0.04998	0.0134	N	0.10809	0.05	0.38545	D	0.949303	B	0.11235	0.004	B	0.11329	0.006	T	0.37549	-0.9701	10	0.17832	T	0.49	-10.7536	7.1762	0.25747	0.2049:0.0:0.6723:0.1228	.	389	Q14241	ELOA1_HUMAN	D	389	ENSP00000395574:E389D	ENSP00000395574:E389D	E	+	3	2	TCEB3	23950771	0.987000	0.35691	0.995000	0.50966	0.156000	0.22039	0.078000	0.14761	0.723000	0.32274	0.655000	0.94253	GAG	TCEB3	-	NULL		0.458	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078184	1	no_errors	ENST00000418390	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24078184	G	C	24078184	3	2	23	1	0	0	0	0	1	0	0	0	15711	933	33	1	1181	1	TCEB3	1	24078184	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		24078184	225172437	1	3322										
ZC3H12A	80149	genome.wustl.edu	37	chr1	37948736	37948736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcctggactcgggcattggcTccctggagagccagatgtcg	15	12	0	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:37948736T>C	ENST00000373087.6	+	6	1440	c.1324T>C	c.(1324-1326)Tcc>Ccc	p.S442P		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCATTGGCTCCCTGGAGAG	0.662																																																	0													23	27	26					1																	37948736		2201	4299	6500	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1324T>C	1.37:g.37948736T>C	ENSP00000362179:p.Ser442Pro			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.S442P	ENST00000373087.6	37	c.1324	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748648	0.69533	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.22134	1.97	5.52	5.52	0.82312	.	0.601453	0.18798	N	0.130880	T	0.44030	0.1274	M	0.68952	2.095	0.40650	D	0.982025	D;B	0.89917	1.0;0.029	D;B	0.91635	0.999;0.018	T	0.21586	-1.0241	10	0.29301	T	0.29	-43.0297	14.2234	0.65843	0.0:0.0:0.0:1.0	.	237;442	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	P	442	ENSP00000362179:S442P	ENSP00000362174:S442P	S	+	1	0	ZC3H12A	37721323	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.321000	0.59209	2.086000	0.62901	0.459000	0.35465	TCC	ZC3H12A	-	NULL		0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	T	NM_025079		37948736	1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37948736	T	C	37948736	3	2	23	1	0	0	0	0	1	0	0	0	17591	1551	54	5	1342	5	ZC3H12A	1	37948736	Missense_Mutation	SNP	T	TCGA-C5-A1MJ-01A-11D-A14W-08	13870552	37948736	211301885	2	3323										
ANKRD34A	284615	genome.wustl.edu	37	chr1	145474435	145474435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cgatacagcgcctccccgttGaccctccctccagccggctc	8	21	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:145474435G>A	ENST00000323397.4	+	4	2400	c.1107G>A	c.(1105-1107)ttG>ttA	p.L369L	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	369	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTCCCCGTTGACCCTCCCTC	0.697																																																	0													21	23	22					1																	145474435		2203	4297	6500	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1107G>A	1.37:g.145474435G>A			B3KSU3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L369	ENST00000323397.4	37	c.1107	CCDS30829.1	1																																																																																			ANKRD34A	-	NULL		0.697	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	G			145474435	1	no_errors	ENST00000323397	ensembl	human	known	70_37	silent	SNP	1.000	A	A	145474435	G	A	145474435	2	1	23	1	0	0	0	0	0	0	0	1	662	1281	45	1		1	ANKRD34A	1	145474435	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	107525699	145474435	103776186	3	3324										
OR10T2	128360	genome.wustl.edu	37	chr1	158368642	158368642	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aaaggcaccataattaccagGatgctgaggctaaataaagc	9	8	0	1	rs145580938	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:158368642G>T	ENST00000334438.1	-	1	614	c.615C>A	c.(613-615)atC>atA	p.I205I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TAATTACCAGGATGCTGAGGC	0.453																																																	0													54	55	54					1																	158368642		2203	4300	6503	SO:0001819	synonymous_variant	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.615C>A	1.37:g.158368642G>T			Q6IF98	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I205	ENST00000334438.1	37	c.615	CCDS30895.1	1																																																																																			OR10T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	HGNC	protein_coding	OTTHUMT00000046371.1	G	NM_001004475		158368642	-1	no_errors	ENST00000334438	ensembl	human	known	70_37	silent	SNP	0.632	T	T	158368642	G	T	158368642	2	4	23	1	0	0	0	0	0	0	0	1	10943	1164	41	3		3	OR10T2	1	158368642	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	12894207	158368642	90881979	4	3325										
RGS2	5997	genome.wustl.edu	37	chr1	192779519	192779519	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ggccttctcctgaggaagcaCagctgtggtcagaagcattt	12	10	2	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:192779519C>T	ENST00000235382.5	+	3	263	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	78					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						TGAGGAAGCACAGCTGTGGTC	0.468																																					Pancreas(71;51 2183 4981)												0													125	119	121					1																	192779519		2203	4300	6503	SO:0001587	stop_gained	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.232C>T	1.37:g.192779519C>T	ENSP00000235382:p.Gln78*		Q6I9U5	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q78*	ENST00000235382.5	37	c.232	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.232154	0.95207	.	.	ENSG00000116741	ENST00000235382	.	.	.	5.81	3.94	0.45596	.	0.617829	0.17764	N	0.162797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6721	0.17728	0.1446:0.6413:0.1395:0.0745	.	.	.	.	X	78	.	ENSP00000235382:Q78X	Q	+	1	0	RGS2	191046142	0.958000	0.32768	0.785000	0.31869	0.996000	0.88848	2.202000	0.42743	0.802000	0.34089	0.655000	0.94253	CAG	RGS2	-	superfamily_Regulat_G_prot_signal_superfam		0.468	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	C	NM_002923		192779519	1	no_errors	ENST00000235382	ensembl	human	known	70_37	nonsense	SNP	0.829	T	T	192779519	C	T	192779519	4	4	23	1	0	0	0	0	0	1	0	0	13332	479	17	4	242	4	RGS2	1	192779519	Nonsense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	34410877	192779519	56471102	5	3326										
ASPM	259266	genome.wustl.edu	37	chr1	197069809	197069809	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gatagcagctcttttctgctGaacaaatcttctccgataca	6	11	4	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:197069809G>A	ENST00000367409.4	-	18	8828	c.8572C>T	c.(8572-8574)Cag>Tag	p.Q2858*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2858					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTCTGCTGAACAAATCTT	0.383																																																	0													49	51	50					1																	197069809		2202	4296	6498	SO:0001587	stop_gained	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8572C>T	1.37:g.197069809G>A	ENSP00000356379:p.Gln2858*		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.Q2858*	ENST00000367409.4	37	c.8572	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.761394	0.99761	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	.	.	.	4.76	1.39	0.22231	.	1.188110	0.05866	N	0.623876	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	3.5042	0.07684	0.0871:0.1432:0.4785:0.2912	.	.	.	.	X	2858;844	.	ENSP00000356376:Q844X	Q	-	1	0	ASPM	195336432	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.280000	0.18790	0.456000	0.26937	0.563000	0.77884	CAG	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS		0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197069809	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	197069809	G	A	197069809	4	1	23	1	0	0	0	0	0	1	0	0	1057	1299	45	1	1905	1	ASPM	1	197069809	Nonsense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	4290290	197069809	52180812	6	3327										
ACTA1	58	genome.wustl.edu	37	chr1	229568794	229568794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctaggggcgtcatccccggcGaagccggctttcaccaggcc	13	16	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:229568794G>A	ENST00000366684.3	-	2	171	c.69C>T	c.(67-69)ttC>ttT	p.F23F	ACTA1_ENST00000366683.2_Silent_p.F23F	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	23					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.F23F(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CATCCCCGGCGAAGCCGGCTT	0.682																																																	1	Substitution - coding silent(1)	lung(1)											46	49	48					1																	229568794		2203	4300	6503	SO:0001819	synonymous_variant	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.69C>T	1.37:g.229568794G>A			P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.F23	ENST00000366684.3	37	c.69	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	G	NM_001100		229568794	-1	no_errors	ENST00000366684	ensembl	human	known	70_37	silent	SNP	0.952	A	A	229568794	G	A	229568794	2	1	23	1	0	0	0	0	0	0	0	1	191	1049	37	1		1	ACTA1	1	229568794	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	32498985	229568794	19681827	7	3328										
KCNS3	3790	genome.wustl.edu	37	chr2	18113430	18113430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gtcaccttggcgggaaagctCatcgccagcacatgcatcat	10	13	3	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:18113430C>T	ENST00000403915.1	+	3	1606	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	KCNS3_ENST00000304101.4_Silent_p.L385L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	385					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGGGAAAGCTCATCGCCAGCA	0.552																																																	0													140	121	127					2																	18113430		2203	4300	6503	SO:0001819	synonymous_variant	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1155C>T	2.37:g.18113430C>T			D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.L385	ENST00000403915.1	37	c.1155	CCDS1692.1	2																																																																																			KCNS3	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.552	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	C	NM_002252		18113430	1	no_errors	ENST00000304101	ensembl	human	known	70_37	silent	SNP	0.166	T	T	18113430	C	T	18113430	2	4	23	1	0	0	0	0	0	0	0	1	8110	813	29	1		1	KCNS3	2	18113430	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		18113430	225085943	8	3329										
APOB	338	genome.wustl.edu	37	chr2	21231002	21231002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctatgtggccagctttcaacAgtgtcttgatctcgttgcgc	10	11	3	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:21231002A>C	ENST00000233242.1	-	26	8865	c.8738T>G	c.(8737-8739)cTg>cGg	p.L2913R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2913					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTTCAACAGTGTCTTGAT	0.468																																																	0													177	170	172					2																	21231002		2203	4299	6502	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8738T>G	2.37:g.21231002A>C	ENSP00000233242:p.Leu2913Arg		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L2913R	ENST00000233242.1	37	c.8738	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	3.107	-0.183423	0.06340	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00737	5.76	5.74	4.56	0.56223	.	0.184464	0.26688	N	0.023018	T	0.00936	0.0031	L	0.59912	1.85	0.18873	N	0.999981	B	0.15473	0.013	B	0.14023	0.01	T	0.48139	-0.9061	10	0.06625	T	0.88	.	8.5376	0.33373	0.7361:0.1349:0.0:0.129	.	2913	P04114	APOB_HUMAN	R	2913	ENSP00000233242:L2913R	ENSP00000233242:L2913R	L	-	2	0	APOB	21084507	0.000000	0.05858	0.462000	0.27118	0.049000	0.14656	0.621000	0.24418	0.971000	0.38288	0.459000	0.35465	CTG	APOB	-	NULL		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	A			21231002	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	C	C	21231002	A	C	21231002	3	2	23	1	0	0	0	0	1	0	0	0	785	188	7	5	4969	5	APOB	2	21231002	Missense_Mutation	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	3117572	21231002	221968371	9	3330										
ANKRD36	375248	genome.wustl.edu	37	chr2	97860487	97860487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttctcggaaaaaaccagcctTgaaggtaatgaaactctcat	7	9	2	2	rs59466168	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:97860487T>C	ENST00000461153.2	+	39	2718	c.2474T>C	c.(2473-2475)tTg>tCg	p.L825S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.L825S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	825								p.L825S(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAACCAGCCTTGAAGGTAATG	0.338																																																	1	Substitution - Missense(1)	stomach(1)																																								SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2474T>C	2.37:g.97860487T>C	ENSP00000419530:p.Leu825Ser		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L825S	ENST00000461153.2	37	c.2474	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	6.237	0.411823	0.11812	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	D;D	0.82255	-1.59;-1.59	0.649	-1.05	0.10036	.	.	.	.	.	T	0.66446	0.2790	L	0.34521	1.04	0.58432	P	1.0000000000287557E-6	B	0.31893	0.345	B	0.18871	0.023	T	0.56032	-0.8046	7	0.25751	T	0.34	.	.	.	.	rs59466168;rs62154812	825	A6QL64	AN36A_HUMAN	S	825;825;187	ENSP00000419530:L825S;ENSP00000391950:L825S	ENSP00000391950:L825S	L	+	2	0	ANKRD36	97224214	0.001000	0.12720	0.048000	0.18961	0.004000	0.04260	-0.718000	0.04980	-0.323000	0.08602	-1.634000	0.00779	TTG	ANKRD36	-	NULL		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	T			97860487	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.064	C	C	97860487	T	C	97860487	3	2	23	1	0	0	0	0	1	0	0	0	665	1821	63	5	2628	5	ANKRD36	2	97860487	Missense_Mutation	SNP	T	TCGA-C5-A1MJ-01A-11D-A14W-08	76629485	97860487	145338886	10	3331										
GPR148	344561	genome.wustl.edu	37	chr2	131487317	131487317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tgcccagctggaggagcaagGagcttcatacatcctaccac	10	13	1	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:131487317G>A	ENST00000309926.4	+	1	675	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GAGGAGCAAGGAGCTTCATAC	0.582																																																	0													106	102	103					2																	131487317		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.593G>A	2.37:g.131487317G>A	ENSP00000308908:p.Gly198Glu		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G198E	ENST00000309926.4	37	c.593	CCDS2163.1	2	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.343836	0.01277	.	.	ENSG00000173302	ENST00000309926	T	0.37584	1.19	2.87	0.935	0.19483	GPCR, rhodopsin-like superfamily (1);	1.958860	0.03947	U	0.287886	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.27262	0.078	T	0.22730	-1.0208	10	0.02654	T	1	0.0026	5.7454	0.18118	0.4108:0.0:0.5892:0.0	.	198	Q8TDV2	GP148_HUMAN	E	198	ENSP00000308908:G198E	ENSP00000308908:G198E	G	+	2	0	GPR148	131203787	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.010000	0.12743	0.076000	0.16826	0.462000	0.41574	GGA	GPR148	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.582	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR148	HGNC	protein_coding	OTTHUMT00000254552.3	G	XM_293092		131487317	1	no_errors	ENST00000309926	ensembl	human	known	70_37	missense	SNP	0.000	A	A	131487317	G	A	131487317	3	1	23	1	0	0	0	0	1	0	0	0	6672	1174	41	1	595	1	GPR148	2	131487317	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	33626830	131487317	111712056	11	3332										
GALNT5	11227	genome.wustl.edu	37	chr2	158167845	158167845	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	caaaagtggaaatttgaaaaAtattatgaagcctgaagtgt	9	3	0	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:158167845A>G	ENST00000259056.4	+	10	3293	c.2808A>G	c.(2806-2808)aaA>aaG	p.K936K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	936					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AATTTGAAAAATATTATGAAG	0.333																																																	0													51	57	55					2																	158167845		2203	4300	6503	SO:0001819	synonymous_variant	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2808A>G	2.37:g.158167845A>G			A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K936	ENST00000259056.4	37	c.2808	CCDS2203.1	2																																																																																			GALNT5	-	superfamily_Ricin_B_lectin		0.333	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	A	NM_014568		158167845	1	no_errors	ENST00000259056	ensembl	human	known	70_37	silent	SNP	0.440	G	G	158167845	A	G	158167845	2	3	23	1	0	0	0	0	0	0	0	1	6235	98	4	5		5	GALNT5	2	158167845	Silent	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	26680528	158167845	85031528	12	3333										
TTC21B	79809	genome.wustl.edu	37	chr2	166773832	166773832	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cgataaacgatggcttgtatCaacttcagtttttctgtctt	7	8	4	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:166773832C>A	ENST00000243344.7	-	14	1971	c.1834G>T	c.(1834-1836)Gat>Tat	p.D612Y		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	612					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGGCTTGTATCAACTTCAGTT	0.378																																																	0													169	159	162					2																	166773832		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1834G>T	2.37:g.166773832C>A	ENSP00000243344:p.Asp612Tyr		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D612Y	ENST00000243344.7	37	c.1834	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700630	0.30142	.	.	ENSG00000123607	ENST00000243344	T	0.61158	0.13	5.74	5.74	0.90152	.	0.101398	0.64402	D	0.000002	T	0.58779	0.2146	L	0.54323	1.7	0.80722	D	1	P	0.52061	0.95	P	0.46758	0.526	T	0.62487	-0.6844	10	0.62326	D	0.03	-16.6578	13.1646	0.59562	0.0:0.9273:0.0:0.0727	.	612	Q7Z4L5	TT21B_HUMAN	Y	612	ENSP00000243344:D612Y	ENSP00000243344:D612Y	D	-	1	0	TTC21B	166482078	1.000000	0.71417	0.157000	0.22605	0.038000	0.13279	4.773000	0.62331	2.723000	0.93209	0.591000	0.81541	GAT	TTC21B	-	NULL		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	C	NM_024753		166773832	-1	no_errors	ENST00000243344	ensembl	human	known	70_37	missense	SNP	0.999	A	A	166773832	C	A	166773832	3	1	23	1	0	0	0	0	1	0	0	0	16719	826	29	3	2180	3	TTC21B	2	166773832	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	8605987	166773832	76425541	13	3334										
PDE11A	50940	genome.wustl.edu	37	chr2	178705049	178705049	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcctgttgaagcaaccagctCagcaatgctgttatttatta	8	9	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:178705049C>T	ENST00000286063.6	-	6	1746	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	PDE11A_ENST00000449286.2_Missense_Mutation_p.E119K|PDE11A_ENST00000358450.4_Missense_Mutation_p.E227K|PDE11A_ENST00000389683.3_Missense_Mutation_p.E33K|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.E119K	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	477	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCAACCAGCTCAGCAATGCTG	0.473									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													121	113	116					2																	178705049		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1429G>A	2.37:g.178705049C>T	ENSP00000286063:p.Glu477Lys		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E477K	ENST00000286063.6	37	c.1429	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957826	0.53400	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.69	5.69	0.88448	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	L	0.31752	0.955	0.80722	D	1	P;B	0.46656	0.882;0.1	P;B	0.51701	0.677;0.168	T	0.57831	-0.7743	10	0.10902	T	0.67	.	19.8324	0.96640	0.0:1.0:0.0:0.0	.	227;477	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	K	477;227;119;33;119	ENSP00000286063:E477K;ENSP00000351232:E227K;ENSP00000386539:E119K;ENSP00000374333:E33K;ENSP00000390599:E119K	ENSP00000286063:E477K	E	-	1	0	PDE11A	178413295	1.000000	0.71417	0.967000	0.41034	0.849000	0.48306	7.772000	0.85439	2.696000	0.92011	0.467000	0.42956	GAG	PDE11A	-	pfam_GAF,smart_GAF		0.473	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	C			178705049	-1	no_errors	ENST00000286063	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178705049	C	T	178705049	3	4	23	1	0	0	0	0	1	0	0	0	11655	835	29	1	1432	1	PDE11A	2	178705049	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	11931217	178705049	64494324	14	3335										
TTN	7273	genome.wustl.edu	37	chr2	179495034	179495034	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	atccaccccacccgtctggtCcaggcgacagttgtgcaaaa	9	15	1	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:179495034C>G	ENST00000591111.1	-	189	39516	c.39292G>C	c.(39292-39294)Gac>Cac	p.D13098H	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5799H|TTN_ENST00000460472.2_Missense_Mutation_p.D5674H|TTN_ENST00000342175.6_Missense_Mutation_p.D5866H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D14739H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12171H			Q8WZ42	TITIN_HUMAN	titin	13098					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCGTCTGGTCCAGGCGACAG	0.388																																																	0													78	84	82					2																	179495034		1855	4082	5937	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39292G>C	2.37:g.179495034C>G	ENSP00000465570:p.Asp13098His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D12171H	ENST00000591111.1	37	c.36511		2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462918	0.43736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52041	0.1710	M	0.81497	2.545	0.49389	D	0.999786	D;D;D;D	0.62365	0.991;0.991;0.991;0.991	P;P;P;P	0.50231	0.635;0.635;0.635;0.635	T	0.57974	-0.7718	9	0.87932	D	0	.	14.7083	0.69208	0.0:0.9314:0.0:0.0686	.	5674;5799;5866;13098	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	12171;5674;5866;5799;5674	ENSP00000343764:D12171H;ENSP00000434586:D5674H;ENSP00000340554:D5866H;ENSP00000352154:D5799H	ENSP00000340554:D5866H	D	-	1	0	TTN	179203279	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.866000	0.56040	2.873000	0.98535	0.563000	0.77884	GAC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179495034	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179495034	C	G	179495034	3	3	23	1	0	0	0	0	1	0	0	0	16766	855	30	1	63974	1	TTN	2	179495034	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	789985	179495034	63704339	15	3336										
TTN	7273	genome.wustl.edu	37	chr2	179605180	179605180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aagctctgactcaagatgagCgcactttgtgcctcttgctt	9	11	3	3	rs746578	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:179605180C>T	ENST00000591111.1	-	46	12053	c.11829G>A	c.(11827-11829)gcG>gcA	p.A3943A	TTN_ENST00000359218.5_Silent_p.A4022A|TTN_ENST00000460472.2_Silent_p.A3897A|TTN_ENST00000342175.6_Silent_p.A4089A|TTN_ENST00000589042.1_Silent_p.A4260A|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGATGAGCGCACTTTGTG	0.483													C|||	1196	0.238818	0.1846	0.1585	5008	,	,		20859	0.4702		0.1382	False		,,,				2504	0.2342																0								C	,,,	585,3313		44,497,1408	106	99	101		11691,,12066,12267	-1.9	0	2	dbSNP_86	101	1064,7228		80,904,3162	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	124,1401,4570	TT,TC,CC		12.8316,15.0077,13.5275	,,,	3897/26927,,4022/27052,4089/27119	179605180	1649,10541	1949	4146	6095	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11829G>A	2.37:g.179605180C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A4089	ENST00000591111.1	37	c.12267		2																																																																																			TTN	-	superfamily_RNaseH-like_dom		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179605180	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	silent	SNP	0.000	T	T	179605180	C	T	179605180	2	4	23	1	0	0	0	0	0	0	0	1	16766	755	27	2		2	TTN	2	179605180	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	110146	179605180	63594193	16	3337										
SCN11A	11280	genome.wustl.edu	37	chr3	38889083	38889083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tgttgaacagagaaggaagcGacatcatcagagcaaagagg	13	6	2	4	rs374311646		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:38889083G>A	ENST00000302328.3	-	26	4676	c.4478C>T	c.(4477-4479)tCg>tTg	p.S1493L	SCN11A_ENST00000450244.1_Missense_Mutation_p.S1493L|SCN11A_ENST00000456224.3_Missense_Mutation_p.S1455L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1493					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1493L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAGGAAGCGACATCATCAG	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LEU/SER	0,4406		0,0,2203	86	87	87		4478	5.8	1	3		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN11A	NM_014139.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1493/1792	38889083	1,13005	2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4478C>T	3.37:g.38889083G>A	ENSP00000307599:p.Ser1493Leu		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S1493L	ENST00000302328.3	37	c.4478	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.290346	0.95546	0.0	1.16E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98889	-5.21;-5.21;-5.21	5.81	5.81	0.92471	Ion transport (1);	0.109714	0.64402	D	0.000004	D	0.99576	0.9847	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97830	1.0262	10	0.87932	D	0	.	20.0787	0.97763	0.0:0.0:1.0:0.0	.	1493	Q9UI33	SCNBA_HUMAN	L	1493;1493;1455	ENSP00000307599:S1493L;ENSP00000400945:S1493L;ENSP00000416757:S1455L	ENSP00000307599:S1493L	S	-	2	0	SCN11A	38864087	1.000000	0.71417	0.974000	0.42286	0.931000	0.56810	9.859000	0.99545	2.750000	0.94351	0.637000	0.83480	TCG	SCN11A	-	pfam_Ion_trans_dom		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	G	NM_014139		38889083	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38889083	G	A	38889083	3	1	23	1	0	0	0	0	1	0	0	0	13943	1059	37	1	901	1	SCN11A	3	38889083	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		38889083	159133347	17	3338										
KIAA1524	57650	genome.wustl.edu	37	chr3	108276131	108276131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cagccacagactctaacttcCtattatgttgaaagagatgc	7	10	1	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:108276131C>A	ENST00000295746.8	-	17	2220	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	KIAA1524_ENST00000491772.1_Missense_Mutation_p.R556M	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	715					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCTAACTTCCTATTATGTTG	0.378																																																	0													138	135	136					3																	108276131		2202	4299	6501	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2144G>T	3.37:g.108276131C>A	ENSP00000295746:p.Arg715Met		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R715M	ENST00000295746.8	37	c.2144	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516557	0.64634	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.30448	1.53;2.55	6.03	4.24	0.50183	.	0.456756	0.28493	N	0.015157	T	0.24812	0.0602	N	0.24115	0.695	0.29190	N	0.875937	P	0.50819	0.939	P	0.46275	0.51	T	0.07195	-1.0785	10	0.66056	D	0.02	-7.1022	9.6328	0.39789	0.0:0.7939:0.0:0.2061	.	715	Q8TCG1	CIP2A_HUMAN	M	556;715	ENSP00000419487:R556M;ENSP00000295746:R715M	ENSP00000295746:R715M	R	-	2	0	KIAA1524	109758821	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.378000	0.34328	0.869000	0.35703	0.557000	0.71058	AGG	KIAA1524	-	NULL		0.378	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	C	NM_020890		108276131	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108276131	C	A	108276131	3	1	23	1	0	0	0	0	1	0	0	0	8259	681	24	4	593	4	KIAA1524	3	108276131	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	69387048	108276131	89746299	18	3339										
A4GNT	51146	genome.wustl.edu	37	chr3	137843671	137843671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tccagatgatggccaggcggGatgcatccgagctgatgtgg	16	9	0	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:137843671G>A	ENST00000236709.3	-	3	659	c.458C>T	c.(457-459)tCc>tTc	p.S153F		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	153					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGCCAGGCGGGATGCATCCGA	0.577																																																	0													78	74	75					3																	137843671		2203	4300	6503	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.458C>T	3.37:g.137843671G>A	ENSP00000236709:p.Ser153Phe		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.S153F	ENST00000236709.3	37	c.458	CCDS3097.1	3	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811967	0.32053	.	.	ENSG00000118017	ENST00000236709	T	0.79454	-1.27	5.27	2.19	0.27852	Glycosyltransferase, DXD sugar-binding motif (1);	0.862410	0.10104	N	0.715620	T	0.81635	0.4864	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	P	0.57960	0.83	T	0.68864	-0.5296	10	0.27785	T	0.31	0.0894	12.059	0.53552	0.0802:0.5323:0.3875:0.0	.	153	Q9UNA3	A4GCT_HUMAN	F	153	ENSP00000236709:S153F	ENSP00000236709:S153F	S	-	2	0	A4GNT	139326361	0.160000	0.22878	0.318000	0.25279	0.339000	0.28857	0.382000	0.20635	0.573000	0.29400	0.563000	0.77884	TCC	A4GNT	-	pfam_GlycoTrfase_DXD_sugar-bd_CS		0.577	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A4GNT	HGNC	protein_coding	OTTHUMT00000357557.1	G	NM_016161		137843671	-1	no_errors	ENST00000236709	ensembl	human	known	70_37	missense	SNP	0.066	A	A	137843671	G	A	137843671	3	1	23	1	0	0	0	0	1	0	0	0	7	1174	41	1	568	1	A4GNT	3	137843671	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	29567540	137843671	60178759	19	3340										
CP	1356	genome.wustl.edu	37	chr3	148928011	148928011	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ggcaatatcttttggagcatCaatgtgggaatggtaaatcc	11	6	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:148928011C>T	ENST00000264613.6	-	3	812	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	184	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTGGAGCATCAATGTGGGAA	0.413																																																	0													220	189	199					3																	148928011		2203	4300	6503	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.550G>A	3.37:g.148928011C>T	ENSP00000264613:p.Asp184Asn		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.D184N	ENST00000264613.6	37	c.550	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627280	0.87560	.	.	ENSG00000047457	ENST00000264613	D	0.98701	-5.08	5.8	5.8	0.92144	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.045214	0.85682	D	0.000000	D	0.98270	0.9427	L	0.45137	1.4	0.47037	D	0.999299	P;P	0.52692	0.955;0.955	P;P	0.56042	0.79;0.691	D	0.97978	1.0347	10	0.32370	T	0.25	-29.0439	20.0465	0.97608	0.0:1.0:0.0:0.0	.	184;184	A8K5A4;P00450	.;CERU_HUMAN	N	184	ENSP00000264613:D184N	ENSP00000264613:D184N	D	-	1	0	CP	150410701	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	3.451000	0.52964	2.735000	0.93741	0.557000	0.71058	GAT	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.413	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	C	NM_000096		148928011	-1	no_errors	ENST00000264613	ensembl	human	known	70_37	missense	SNP	0.998	T	T	148928011	C	T	148928011	3	4	23	1	0	0	0	0	1	0	0	0	3792	826	29	1	2715	1	CP	3	148928011	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	11084340	148928011	49094419	20	3341										
SPATA16	83893	genome.wustl.edu	37	chr3	172766842	172766842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcttgctatatcttcagcagGtgcatcaaatggttctccca	8	11	4	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:172766842G>T	ENST00000351008.3	-	3	838	c.655C>A	c.(655-657)Cct>Act	p.P219T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	219					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTTCAGCAGGTGCATCAAAT	0.368																																																	0													90	80	84					3																	172766842		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.655C>A	3.37:g.172766842G>T	ENSP00000341765:p.Pro219Thr		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	NULL	p.P219T	ENST00000351008.3	37	c.655	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	G	0.353	-0.943603	0.02322	.	.	ENSG00000144962	ENST00000351008	T	0.15139	2.45	5.07	-0.0105	0.13996	Tetratricopeptide-like helical (1);	0.481200	0.19866	N	0.104305	T	0.07503	0.0189	N	0.14661	0.345	0.20873	N	0.999839	B	0.10296	0.003	B	0.11329	0.006	T	0.42103	-0.9471	10	0.09084	T	0.74	-0.3119	8.2022	0.31432	0.6819:0.0:0.3181:0.0	.	219	Q9BXB7	SPT16_HUMAN	T	219	ENSP00000341765:P219T	ENSP00000341765:P219T	P	-	1	0	SPATA16	174249536	0.977000	0.34250	0.983000	0.44433	0.111000	0.19643	1.172000	0.31908	-0.149000	0.11215	-1.004000	0.02495	CCT	SPATA16	-	NULL		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	G	NM_031955		172766842	-1	no_errors	ENST00000351008	ensembl	human	known	70_37	missense	SNP	0.996	T	T	172766842	G	T	172766842	3	4	23	1	0	0	0	0	1	0	0	0	15031	1261	44	4	1090	4	SPATA16	3	172766842	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	23838831	172766842	25255588	21	3342										
MUC20	200958	genome.wustl.edu	37	chr3	195453204	195453204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tgcttcctcctacagcccctCggaagccgccctcaagaact	7	18	1	1	rs202189746		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:195453204C>T	ENST00000447234.2	+	2	1856	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	MUC20_ENST00000445522.2_Missense_Mutation_p.S542L|MUC20_ENST00000320736.6_Missense_Mutation_p.S406L|MUC20_ENST00000436408.1_Missense_Mutation_p.S577L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	577	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACAGCCCCTCGGAAGCCGCC	0.592																																																	0								C	LEU/SER,LEU/SER	6,4048		0,6,2021	63	60	61		1112,1217	1.6	0	3		61	7,8389		0,7,4191	no	missense,missense	MUC20	NM_001098516.1,NM_152673.2	145,145	0,13,6212	TT,TC,CC		0.0834,0.148,0.1044	possibly-damaging,possibly-damaging	371/504,406/539	195453204	13,12437	2027	4198	6225	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1730C>T	3.37:g.195453204C>T	ENSP00000414350:p.Ser577Leu		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.S577L	ENST00000447234.2	37	c.1730		3	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556464	0.45487	0.00148	8.34E-4	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.17213	2.72;2.77;2.88;2.29	4.54	1.61	0.23674	.	1.280730	0.05598	N	0.575842	T	0.20700	0.0498	L	0.36672	1.1	0.09310	N	1	D	0.60160	0.987	P	0.53649	0.731	T	0.12091	-1.0561	10	0.39692	T	0.17	-9.0E-4	2.92	0.05766	0.1864:0.533:0.1805:0.1001	.	406	E9PH32	.	L	577;406;577;542	ENSP00000414350:S577L;ENSP00000325431:S406L;ENSP00000396774:S577L;ENSP00000405629:S542L	ENSP00000325431:S406L	S	+	2	0	MUC20	196938875	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.531000	0.23052	0.206000	0.20587	0.514000	0.50259	TCG	MUC20	-	NULL		0.592	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	C	NM_152673		195453204	1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.000	T	T	195453204	C	T	195453204	3	4	23	1	0	0	0	0	1	0	0	0	9999	893	31	1	1227	1	MUC20	3	195453204	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	22686362	195453204	2569226	22	3343										
GABRG1	2565	genome.wustl.edu	37	chr4	46060338	46060339	+	Missense_Mutation	DNP	CC	CC	AG													0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aggtctgaatagtgaaatatCccattcttctgctcaggtca							TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr4:46060338_46060339CC>AG	ENST00000295452.4	-	7	978_979	c.811_812GG>CT	c.(811-813)GGa>CTa	p.G271L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	271					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTGAAATATCCCATTCTTCTG	0.337																																																	0																																										SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.811_812delinsAG	4.37:g.46060338_46060339delinsAG	ENSP00000295452:p.Gly271Leu		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G271V|p.G271R	ENST00000295452.4	37	c.812|c.811	CCDS3470.1	4																																																																																			GABRG1	-	superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel		0.337	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	C	NM_173536		46060338|46060339	-1	no_errors	ENST00000295452	ensembl	human	known	70_37	missense	SNP	1.000	A|G	AG	46060339	CC	AG	46060338	3	1	23	1	0	0	0	0	1	0	0	0	6189	855	30	3	597	3	GABRG1	4	46060338	Missense_Mutation	DNP	CC	TCGA-C5-A1MJ-01A-11D-A14W-08		46060338	145093938	23	3344										
SMAD1	4086	genome.wustl.edu	37	chr4	146435948	146435948	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttgagctgcccagggcaaccGagtaactgtgtcaccattcc	10	13	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr4:146435948G>A	ENST00000515385.1	+	2	725	c.183G>A	c.(181-183)ccG>ccA	p.P61P	SMAD1_ENST00000302085.4_Silent_p.P61P|SMAD1_ENST00000394092.2_Silent_p.P61P|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	61	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CAGGGCAACCGAGTAACTGTG	0.537																																					Pancreas(182;1287 2092 10326 35158 50562)												0													86	82	83					4																	146435948		2203	4300	6503	SO:0001819	synonymous_variant	4086			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.183G>A	4.37:g.146435948G>A			A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.P61	ENST00000515385.1	37	c.183	CCDS3765.1	4																																																																																			SMAD1	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.537	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	G	NM_005900		146435948	1	no_errors	ENST00000302085	ensembl	human	known	70_37	silent	SNP	0.924	A	A	146435948	G	A	146435948	2	1	23	1	0	0	0	0	0	0	0	1	14787	1045	37	1		1	SMAD1	4	146435948	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	100375610	146435948	44718328	24	3345										
MAST4	375449	genome.wustl.edu	37	chr5	66398418	66398418	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ataattatgatgaaccatgtCtacaaagaaaggttcccaaa	6	7	1	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:66398418C>G	ENST00000403625.2	+	9	1420	c.1125C>G	c.(1123-1125)gtC>gtG	p.V375V	MAST4_ENST00000403666.1_Silent_p.V186V|MAST4_ENST00000404260.3_Silent_p.V378V|MAST4_ENST00000405643.1_Silent_p.V196V|MAST4_ENST00000261569.7_Silent_p.V181V|MAST4_ENST00000490016.2_Silent_p.V186V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	378						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGAACCATGTCTACAAAGAAA	0.408																																																	0													121	117	118					5																	66398418		1880	4103	5983	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1125C>G	5.37:g.66398418C>G			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V378	ENST00000403625.2	37	c.1134	CCDS54861.1	5																																																																																			MAST4	-	pfam_MA_Ser/Thr_Kinase_dom		0.408	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66398418	1	no_errors	ENST00000404260	ensembl	human	known	70_37	silent	SNP	1.000	G	G	66398418	C	G	66398418	2	3	23	1	0	0	0	0	0	0	0	1	9350	900	32	1		1	MAST4	5	66398418	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		66398418	114516842	25	3346										
PCDHA11	56138	genome.wustl.edu	37	chr5	140249937	140249937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcgccctggaccgcgagaacGtgtgggcctatgaactggtg	16	11	0	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:140249937G>A	ENST00000398640.2	+	1	1249	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAACGTGTGGGCCTA	0.622																																																	0													160	159	159					5																	140249937		2203	4300	6503	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1249G>A	5.37:g.140249937G>A	ENSP00000381636:p.Val417Met		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V417M	ENST00000398640.2	37	c.1249	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	8.306	0.821032	0.16678	.	.	ENSG00000249158	ENST00000398640	T	0.51574	0.7	5.7	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48804	0.1520	M	0.71036	2.16	0.09310	N	1	P;P	0.48911	0.877;0.917	B;B	0.44224	0.444;0.223	T	0.38714	-0.9648	9	0.56958	D	0.05	.	8.8792	0.35365	0.2873:0.0:0.7127:0.0	.	417;417	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	417	ENSP00000381636:V417M	ENSP00000381636:V417M	V	+	1	0	PCDHA11	140230121	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.212000	0.09319	0.352000	0.24053	0.563000	0.77884	GTG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249937	1	no_errors	ENST00000398640	ensembl	human	known	70_37	missense	SNP	0.001	A	A	140249937	G	A	140249937	3	1	23	1	0	0	0	0	1	0	0	0	11545	1145	40	2	1251	2	PCDHA11	5	140249937	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	73851519	140249937	40665323	26	3347										
PCDHB3	56132	genome.wustl.edu	37	chr5	140481796	140481796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gccctcaggtcgctggactaCgaggccctgcaggcgttcga	14	14	1	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:140481796C>T	ENST00000231130.2	+	1	1563	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.692																																																	0													56	60	59					5																	140481796		2202	4298	6500	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1563C>T	5.37:g.140481796C>T			B2R8P2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y521	ENST00000231130.2	37	c.1563	CCDS4245.1	5																																																																																			PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140481796	1	no_errors	ENST00000231130	ensembl	human	known	70_37	silent	SNP	0.940	T	T	140481796	C	T	140481796	2	4	23	1	0	0	0	0	0	0	0	1	11567	547	19	2		2	PCDHB3	5	140481796	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	231859	140481796	40433464	27	3348										
PCDHGB4	8641	genome.wustl.edu	37	chr5	140768904	140768904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	acttggggcccaacggccaaGtctcttactgcatcatggcc	10	14	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:140768904G>A	ENST00000519479.1	+	1	1453	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGGCCAAGTCTCTTACTG	0.592																																																	0													67	74	72					5																	140768904		1968	4146	6114	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1453G>A	5.37:g.140768904G>A	ENSP00000428288:p.Val485Ile		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V485I	ENST00000519479.1	37	c.1453	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	7.146	0.582879	0.13749	.	.	ENSG00000253953	ENST00000519479	T	0.47528	0.84	5.18	-0.923	0.10465	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29882	0.0747	N	0.10837	0.055	0.09310	N	1	P;B	0.38335	0.627;0.175	P;B	0.47015	0.534;0.437	T	0.30650	-0.9971	9	0.13108	T	0.6	.	6.172	0.20422	0.4014:0.0:0.4829:0.1157	.	485;485	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	I	485	ENSP00000428288:V485I	ENSP00000428288:V485I	V	+	1	0	PCDHGB4	140749088	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.025000	0.12413	-0.179000	0.10654	-0.793000	0.03317	GTC	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	G	NM_003736		140768904	1	no_errors	ENST00000519479	ensembl	human	known	70_37	missense	SNP	0.004	A	A	140768904	G	A	140768904	3	1	23	1	0	0	0	0	1	0	0	0	11589	1029	36	4	1455	4	PCDHGB4	5	140768904	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	287108	140768904	40146356	28	3349										
ZNF454	285676	genome.wustl.edu	37	chr5	178392175	178392175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	caaggccttctcagtgagctCctcacttacgtaccatcaga	7	14	3	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:178392175C>T	ENST00000320129.3	+	5	1073	c.770C>T	c.(769-771)tCc>tTc	p.S257F	ZNF454_ENST00000519564.1_Missense_Mutation_p.S257F	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGTGAGCTCCTCACTTACG	0.433																																																	0													86	91	89					5																	178392175		2203	4300	6503	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.770C>T	5.37:g.178392175C>T	ENSP00000326249:p.Ser257Phe		Q2M1P2|Q2M323	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S257F	ENST00000320129.3	37	c.770	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242001	0.39598	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.37058	1.22;1.22	4.46	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.394519	0.18841	N	0.129669	T	0.49712	0.1573	M	0.79475	2.455	0.09310	N	1	D	0.67145	0.996	P	0.56700	0.804	T	0.43015	-0.9417	10	0.87932	D	0	-15.1912	7.1735	0.25732	0.1905:0.6253:0.1842:0.0	.	257	Q8N9F8	ZN454_HUMAN	F	257	ENSP00000326249:S257F;ENSP00000430354:S257F	ENSP00000326249:S257F	S	+	2	0	ZNF454	178324781	0.000000	0.05858	1.000000	0.80357	0.723000	0.41478	0.255000	0.18333	2.469000	0.83416	0.555000	0.69702	TCC	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	C	XM_209718		178392175	1	no_errors	ENST00000320129	ensembl	human	known	70_37	missense	SNP	0.001	T	T	178392175	C	T	178392175	3	4	23	1	0	0	0	0	1	0	0	0	17953	855	30	1	784	1	ZNF454	5	178392175	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	37623271	178392175	2523085	29	3350										
RUFY1	80230	genome.wustl.edu	37	chr5	179021873	179021873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctttgcttttgtagaatgcaGagagcagtttgcagcagaag	12	6	0	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:179021873G>C	ENST00000319449.4	+	12	1432	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.E366Q|RUFY1_ENST00000437570.2_Missense_Mutation_p.E366Q|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	474					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGAATGCAGAGAGCAGTTT	0.408										HNSCC(44;0.11)																																							0													116	99	105					5																	179021873		2203	4300	6503	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1420G>C	5.37:g.179021873G>C	ENSP00000325594:p.Glu474Gln		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.E474Q	ENST00000319449.4	37	c.1420	CCDS4445.2	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.809651|4.809651|4.809651	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000176783|ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569|ENST00000508609|ENST00000502434	T;T;T|.|.	0.54866|.|.	0.55;0.59;0.59|.|.	5.16|5.16|5.16	5.16|5.16|5.16	0.70880|0.70880|0.70880	.|.|.	0.172432|.|.	0.51477|.|.	D|.|.	0.000090|.|.	T|T|T	0.78935|0.78935|0.78935	0.4362|0.4362|0.4362	M|M|M	0.80183|0.80183|0.80183	2.485|2.485|2.485	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.67145|.|.	0.996|.|.	D|.|.	0.63703|.|.	0.917|.|.	T|T|T	0.79624|0.79624|0.79624	-0.1726|-0.1726|-0.1726	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	-29.1204|-29.1204|-29.1204	19.0495|19.0495|19.0495	0.93038|0.93038|0.93038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	474|.|.	Q96T51|.|.	RUFY1_HUMAN|.|.	Q|H|T	474;366;366;76|262|151	ENSP00000325594:E474Q;ENSP00000390025:E366Q;ENSP00000377087:E366Q|.|.	ENSP00000325594:E474Q|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	RUFY1|RUFY1|RUFY1	178954479|178954479|178954479	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.846000|0.846000|0.846000	0.48090|0.48090|0.48090	8.450000|8.450000|8.450000	0.90340|0.90340|0.90340	2.567000|2.567000|2.567000	0.86603|0.86603|0.86603	0.550000|0.550000|0.550000	0.68814|0.68814|0.68814	GAG|CAG|AGA	RUFY1	-	NULL		0.408	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	G	NM_001040451		179021873	1	no_errors	ENST00000319449	ensembl	human	known	70_37	missense	SNP	1.000	C	C	179021873	G	C	179021873	3	2	23	1	0	0	0	0	1	0	0	0	13768	943	33	1	1466	1	RUFY1	5	179021873	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	629698	179021873	1893387	30	3351										
E2F3	1871	genome.wustl.edu	37	chr6	20402643	20402643	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ccgggcgcgtacatccagatCctcaccacgaacacttccac	7	18	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:20402643C>G	ENST00000346618.3	+	1	246	c.180C>G	c.(178-180)atC>atG	p.I60M	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	60					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACATCCAGATCCTCACCACGA	0.731																																																	0													26	32	30					6																	20402643		2193	4281	6474	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.180C>G	6.37:g.20402643C>G	ENSP00000262904:p.Ile60Met		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.I60M	ENST00000346618.3	37	c.180	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269644	0.23221	.	.	ENSG00000112242	ENST00000346618	T	0.06933	3.24	3.8	1.94	0.25998	.	0.557821	0.17735	N	0.163741	T	0.01189	0.0039	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.44787	-0.9305	10	0.22109	T	0.4	.	6.4229	0.21754	0.0:0.7087:0.1858:0.1055	.	60	O00716	E2F3_HUMAN	M	60	ENSP00000262904:I60M	ENSP00000262904:I60M	I	+	3	3	E2F3	20510622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.435000	0.52849	0.383000	0.24910	0.543000	0.68304	ATC	E2F3	-	NULL		0.731	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	C			20402643	1	no_errors	ENST00000346618	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20402643	C	G	20402643	3	3	23	1	0	0	0	0	1	0	0	0	4878	845	30	1	182	1	E2F3	6	20402643	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		20402643	150712424	31	3352										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34840174	34840174	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	accaggataaagaaaaacttCttcaggagattaggaaatat	8	5	2	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:34840174C>T	ENST00000192788.5	+	21	4453	c.4282C>T	c.(4282-4284)Ctt>Ttt	p.L1428F	UHRF1BP1_ENST00000452449.2_Intron	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1428							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAAAAACTTCTTCAGGAGAT	0.433																																																	0													75	72	73					6																	34840174		1836	4097	5933	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4282C>T	6.37:g.34840174C>T	ENSP00000192788:p.Leu1428Phe		Q9NXE0	Missense_Mutation	SNP	NULL	p.L1428F	ENST00000192788.5	37	c.4282	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273622	0.59649	.	.	ENSG00000065060	ENST00000192788	T	0.16196	2.36	6.08	4.29	0.51040	.	0.071959	0.56097	N	0.000034	T	0.11793	0.0287	M	0.73962	2.25	0.80722	D	1	B	0.23735	0.09	B	0.22152	0.038	T	0.03630	-1.1018	10	0.72032	D	0.01	-9.9274	11.6535	0.51304	0.0:0.861:0.0:0.139	.	1428	Q6BDS2	URFB1_HUMAN	F	1428	ENSP00000192788:L1428F	ENSP00000192788:L1428F	L	+	1	0	UHRF1BP1	34948152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.181000	0.50903	1.587000	0.49959	0.655000	0.94253	CTT	UHRF1BP1	-	NULL		0.433	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34840174	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34840174	C	T	34840174	3	4	23	1	0	0	0	0	1	0	0	0	16999	913	32	1	4364	1	UHRF1BP1	6	34840174	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	14437531	34840174	136274893	32	3353										
KLHDC3	116138	genome.wustl.edu	37	chr6	42985400	42985400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcgggcggaatgacaccgaaGgggcctgcaatgtgctctat	15	10	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:42985400G>C	ENST00000326974.4	+	3	493	c.298G>C	c.(298-300)Ggg>Cgg	p.G100R	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K4N|KLHDC3_ENST00000332245.8_Intron	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	100					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGACACCGAAGGGGCCTGCAA	0.557																																																	0													79	79	79					6																	42985400		2203	4300	6503	SO:0001583	missense	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.298G>C	6.37:g.42985400G>C	ENSP00000313995:p.Gly100Arg		A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.G100R	ENST00000326974.4	37	c.298	CCDS4880.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.260921|4.260921	0.80246|0.80246	.|.	.|.	ENSG00000124702|ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116|ENST00000244670	T|T	0.65178|0.16073	-0.14|2.37	5.4|5.4	5.4|5.4	0.78164|0.78164	Kelch-type beta propeller (1);|.	0.055023|.	0.64402|.	D|.	0.000001|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.38692|0.38692	1.165|1.165	0.40101|0.40101	D|D	0.976372|0.976372	P;D|B	0.76494|0.21905	0.909;0.999|0.062	P;D|B	0.80764|0.24269	0.752;0.994|0.052	T|T	0.04440|0.04440	-1.0951|-1.0951	10|9	0.51188|0.87932	T|D	0.08|0	.|.	19.5531|19.5531	0.95330|0.95330	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	100;100|4	E7ENU0;Q9BQ90|F8W6A4	.;KLDC3_HUMAN|.	R|N	100;100;100;73|4	ENSP00000313995:G100R|ENSP00000244670:K4N	ENSP00000313995:G100R|ENSP00000244670:K4N	G|K	+|+	1|3	0|2	KLHDC3|KLHDC3	43093378|43093378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.271000|9.271000	0.95698|0.95698	2.701000|2.701000	0.92244|0.92244	0.655000|0.655000	0.94253|0.94253	GGG|AAG	KLHDC3	-	NULL		0.557	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	G	NM_057161		42985400	1	no_errors	ENST00000326974	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42985400	G	C	42985400	3	2	23	1	0	0	0	0	1	0	0	0	8377	1000	35	4	304	4	KLHDC3	6	42985400	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	8145226	42985400	128129667	33	3354										
RIMS1	22999	genome.wustl.edu	37	chr6	72889509	72889509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cctcccaggatgctgctcctCccagcgcaccaccagacagg	9	19	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:72889509C>T	ENST00000521978.1	+	5	703	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	RIMS1_ENST00000517960.1_Missense_Mutation_p.P235S|RIMS1_ENST00000264839.7_Missense_Mutation_p.P235S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P235S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P235S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P235S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P235S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P235S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	235					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTGCTCCTCCCAGCGCACC	0.592																																																	0													50	57	54					6																	72889509		2117	4245	6362	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.703C>T	6.37:g.72889509C>T	ENSP00000428417:p.Pro235Ser		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.P235S	ENST00000521978.1	37	c.703	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	4.605	0.112390	0.08831	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15952	2.38;2.53;2.45;2.52;2.51;2.52;2.52;2.43	5.65	3.6	0.41247	.	0.401392	0.23579	N	0.046674	T	0.02494	0.0076	N	0.11201	0.11	0.20403	N	0.999905	B	0.02656	0.0	B	0.04013	0.001	T	0.35798	-0.9774	10	0.44086	T	0.13	-1.1803	4.3936	0.11351	0.0:0.5475:0.0:0.4525	.	235	Q86UR5	RIMS1_HUMAN	S	235	ENSP00000430101:P235S;ENSP00000275037:P235S;ENSP00000264839:P235S;ENSP00000429959:P235S;ENSP00000430408:P235S;ENSP00000430502:P235S;ENSP00000430932:P235S;ENSP00000428417:P235S	ENSP00000264839:P235S	P	+	1	0	RIMS1	72946230	0.217000	0.23597	0.014000	0.15608	0.039000	0.13416	1.594000	0.36697	1.369000	0.46134	0.655000	0.94253	CCC	RIMS1	-	NULL		0.592	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			72889509	1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	0.066	T	T	72889509	C	T	72889509	3	4	23	1	0	0	0	0	1	0	0	0	13397	855	30	1	721	1	RIMS1	6	72889509	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	29904109	72889509	98225558	34	3355										
DSE	29940	genome.wustl.edu	37	chr6	116757460	116757460	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tggggctttcatcaggcagaGagatggtctctataaaatgt	12	6	3	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:116757460G>A	ENST00000331677.3	+	7	2273	c.1829G>A	c.(1828-1830)aGa>aAa	p.R610K	DSE_ENST00000359564.2_Missense_Mutation_p.R610K|DSE_ENST00000537543.1_Missense_Mutation_p.R629K|DSE_ENST00000452085.3_Missense_Mutation_p.R610K			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	610					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCAGGCAGAGAGATGGTCTC	0.498																																																	0													121	108	112					6																	116757460		2203	4300	6503	SO:0001583	missense	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1829G>A	6.37:g.116757460G>A	ENSP00000332151:p.Arg610Lys		Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.R629K	ENST00000331677.3	37	c.1886	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482639	0.04383	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.01	4.24	0.50183	.	0.189794	0.47852	D	0.000210	T	0.29491	0.0735	L	0.51422	1.61	0.35420	D	0.793166	B;B	0.15473	0.013;0.013	B;B	0.19391	0.025;0.025	T	0.18618	-1.0331	10	0.02654	T	1	-6.1905	10.8737	0.46899	0.2007:0.0:0.7993:0.0	.	629;610	B7Z765;Q9UL01	.;DSE_HUMAN	K	610;629;610;610	ENSP00000404049:R610K;ENSP00000441152:R629K;ENSP00000332151:R610K;ENSP00000352567:R610K	ENSP00000332151:R610K	R	+	2	0	DSE	116864153	1.000000	0.71417	0.985000	0.45067	0.946000	0.59487	4.114000	0.57858	0.889000	0.36185	0.650000	0.86243	AGA	DSE	-	NULL		0.498	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	G	NM_013352		116757460	1	no_errors	ENST00000537543	ensembl	human	known	70_37	missense	SNP	0.747	A	A	116757460	G	A	116757460	3	1	23	1	0	0	0	0	1	0	0	0	4784	942	33	1	1847	1	DSE	6	116757460	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	43867951	116757460	54357607	35	3356										
FERD3L	222894	genome.wustl.edu	37	chr7	19184649	19184649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctcgttgaggttgaacatccGcttcctttcgcggatgttgg	12	10	0	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:19184649G>A	ENST00000275461.3	-	1	395	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	113	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTGAACATCCGCTTCCTTTCG	0.612																																																	0													96	79	85					7																	19184649		2203	4300	6503	SO:0001583	missense	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.337C>T	7.37:g.19184649G>A	ENSP00000275461:p.Arg113Trp		Q495K0	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R113W	ENST00000275461.3	37	c.337	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661616	0.67700	.	.	ENSG00000146618	ENST00000275461	D	0.99722	-6.53	5.66	2.52	0.30459	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96847	0.9622	10	0.87932	D	0	-21.6828	15.4532	0.75294	0.0:0.0:0.5625:0.4375	.	113	Q96RJ6	FER3L_HUMAN	W	113	ENSP00000275461:R113W	ENSP00000275461:R113W	R	-	1	2	FERD3L	19151174	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	1.035000	0.30216	0.729000	0.32403	-0.127000	0.14921	CGG	FERD3L	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	G			19184649	-1	no_errors	ENST00000275461	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19184649	G	A	19184649	3	1	23	1	0	0	0	0	1	0	0	0	5834	1086	38	2	167	2	FERD3L	7	19184649	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		19184649	139954014	36	3357										
CDK13	8621	genome.wustl.edu	37	chr7	40132633	40132633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gttgggaggaattcagccttCttctcagaccatccagccta	9	12	3	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:40132633C>T	ENST00000181839.4	+	13	4090	c.3485C>T	c.(3484-3486)tCt>tTt	p.S1162F	CDK13_ENST00000340829.5_Missense_Mutation_p.S1102F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1162					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATTCAGCCTTCTTCTCAGACC	0.483																																																	0													163	165	164					7																	40132633		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3485C>T	7.37:g.40132633C>T	ENSP00000181839:p.Ser1162Phe		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.S1162F	ENST00000181839.4	37	c.3485	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410014	0.62399	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70986	-0.53;-0.47	5.46	4.59	0.56863	.	.	.	.	.	T	0.69691	0.3139	L	0.40543	1.245	0.34411	D	0.696356	D;D	0.56968	0.972;0.978	P;P	0.51615	0.498;0.675	T	0.76512	-0.2932	8	.	.	.	-0.1292	12.8495	0.57850	0.0:0.9252:0.0:0.0748	.	1102;1162	Q14004-2;Q14004	.;CDK13_HUMAN	F	1162;1102	ENSP00000181839:S1162F;ENSP00000340557:S1102F	.	S	+	2	0	CDK13	40099158	0.998000	0.40836	0.959000	0.39883	0.632000	0.37999	3.458000	0.53014	1.542000	0.49330	-0.150000	0.13652	TCT	CDK13	-	NULL		0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40132633	1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	0.955	T	T	40132633	C	T	40132633	3	4	23	1	0	0	0	0	1	0	0	0	3134	913	32	1	3535	1	CDK13	7	40132633	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	20947984	40132633	119006030	37	3358										
PKD1L1	168507	genome.wustl.edu	37	chr7	47886542	47886542	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cgttcagatttccactctctCttgtcccaaaacaggcatcg	6	14	3	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:47886542C>A	ENST00000289672.2	-	32	5138	c.5088G>T	c.(5086-5088)aaG>aaT	p.K1696N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1696	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCACTCTCTCTTGTCCCAAA	0.413																																																	0													120	113	115					7																	47886542		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5088G>T	7.37:g.47886542C>A	ENSP00000289672:p.Lys1696Asn		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.K1696N	ENST00000289672.2	37	c.5088	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	8.523	0.869112	0.17322	.	.	ENSG00000158683	ENST00000289672	T	0.19806	2.12	5.07	-2.64	0.06114	.	0.791572	0.11082	N	0.601779	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	P	0.44195	0.828	B	0.30251	0.113	T	0.25152	-1.0140	10	0.33940	T	0.23	-3.4397	1.4317	0.02335	0.1258:0.2332:0.247:0.3939	.	1696	Q8TDX9	PK1L1_HUMAN	N	1696	ENSP00000289672:K1696N	ENSP00000289672:K1696N	K	-	3	2	PKD1L1	47853067	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-0.483000	0.06536	-0.698000	0.05085	0.563000	0.77884	AAG	PKD1L1	-	NULL		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	C	NM_138295		47886542	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	0.000	A	A	47886542	C	A	47886542	3	1	23	1	0	0	0	0	1	0	0	0	11988	912	32	3	3565	3	PKD1L1	7	47886542	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	7753909	47886542	111252121	38	3359										
STAG3	10734	genome.wustl.edu	37	chr7	99799930	99799930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tagccagcttcctcatggacCacgtcttcatccagccggga	9	15	3	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:99799930C>A	ENST00000426455.1	+	24	2937	c.2530C>A	c.(2530-2532)Cac>Aac	p.H844N	STAG3_ENST00000317296.5_Missense_Mutation_p.H844N|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.H786N|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	844					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCATGGACCACGTCTTCAT	0.547																																																	0													83	84	83					7																	99799930		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2530C>A	7.37:g.99799930C>A	ENSP00000400359:p.His844Asn		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.H844N	ENST00000426455.1	37	c.2530	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	15.46	2.841357	0.51057	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.23950	1.88;1.89;1.88	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000086	T	0.43634	0.1256	L	0.46614	1.455	0.80722	D	1	B;D;B	0.76494	0.11;0.999;0.063	B;D;B	0.66084	0.074;0.941;0.074	T	0.05835	-1.0861	10	0.38643	T	0.18	-15.5655	17.3439	0.87305	0.0:1.0:0.0:0.0	.	786;844;844	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	N	844;786;844	ENSP00000400359:H844N;ENSP00000377586:H786N;ENSP00000319318:H844N	ENSP00000319318:H844N	H	+	1	0	STAG3	99637866	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	2.296000	0.43584	2.697000	0.92050	0.563000	0.77884	CAC	STAG3	-	NULL		0.547	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	C	NM_012447		99799930	1	no_errors	ENST00000317296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99799930	C	A	99799930	3	1	23	1	0	0	0	0	1	0	0	0	15274	594	21	4	2620	4	STAG3	7	99799930	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	51913388	99799930	59338733	39	3360										
LAMB1	3912	genome.wustl.edu	37	chr7	107577713	107577713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	atcatttctgtaacatctttAatcagtttcctgtaaagaga	5	7	4	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:107577713A>G	ENST00000222399.6	-	26	4001	c.3771T>C	c.(3769-3771)atT>atC	p.I1257I	LAMB1_ENST00000393561.1_Silent_p.I1281I|LAMB1_ENST00000474380.1_5'Flank	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1257	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TAACATCTTTAATCAGTTTCC	0.358																																																	0													173	157	162					7																	107577713		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3771T>C	7.37:g.107577713A>G			Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.I1257	ENST00000222399.6	37	c.3771	CCDS5750.1	7																																																																																			LAMB1	-	superfamily_t-SNARE		0.358	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	A	NM_002291		107577713	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	silent	SNP	1.000	G	G	107577713	A	G	107577713	2	3	23	1	0	0	0	0	0	0	0	1	8630	358	13	5		5	LAMB1	7	107577713	Silent	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	7777783	107577713	51560950	40	3361										
SLC13A1	6561	genome.wustl.edu	37	chr7	122755586	122755586	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tgcttattatggcatggtctCattactcatagcaggagccc	9	10	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:122755586C>A	ENST00000194130.2	-	15	1813	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	592					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGCATGGTCTCATTACTCATA	0.393																																																	0													156	128	137					7																	122755586		2203	4300	6503	SO:0001587	stop_gained	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1774G>T	7.37:g.122755586C>A	ENSP00000194130:p.Glu592*		Q9H5Z0	Nonsense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.E592*	ENST00000194130.2	37	c.1774	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679313	0.68042	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.81	-5.63	0.02474	.	2.147640	0.01996	N	0.045886	.	.	.	.	.	.	0.39829	D	0.972947	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.8397	12.0786	0.53657	0.0:0.2073:0.5625:0.2302	.	.	.	.	X	592	.	ENSP00000194130:E592X	E	-	1	0	SLC13A1	122542822	0.000000	0.05858	0.022000	0.16811	0.295000	0.27426	-0.035000	0.12205	-0.515000	0.06479	0.655000	0.94253	GAG	SLC13A1	-	NULL		0.393	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	C	NM_022444		122755586	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	122755586	C	A	122755586	4	1	23	1	0	0	0	0	0	1	0	0	14421	835	29	3	17	3	SLC13A1	7	122755586	Nonsense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	15177873	122755586	36383077	41	3362										
PPP2CB	5516	genome.wustl.edu	37	chr8	30657146	30657146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	atgaataagtagtttgtatcCggtgattttccaccaattct	7	7	1	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:30657146C>T	ENST00000221138.4	-	2	678	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'UTR	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	76					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AGTTTGTATCCGGTGATTTTC	0.383																																																	0													138	135	136					8																	30657146		2203	4300	6503	SO:0001819	synonymous_variant	5516				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9300	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, beta isoform"	176916	"protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.228G>A	8.37:g.30657146C>T			D3DSV4|P11082|Q6FHK5	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.P76	ENST00000221138.4	37	c.228	CCDS6079.1	8																																																																																			PPP2CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.383	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2CB	HGNC	protein_coding	OTTHUMT00000376527.2	C	NM_001009552		30657146	-1	no_errors	ENST00000221138	ensembl	human	known	70_37	silent	SNP	0.994	T	T	30657146	C	T	30657146	2	4	23	1	0	0	0	0	0	0	0	1	12408	639	23	2		2	PPP2CB	8	30657146	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		30657146	115706876	42	3363										
PLAT	5327	genome.wustl.edu	37	chr8	42045026	42045026	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttggtgcactcggcgccactCtccgctgtgctccacgtgcc	11	17	1	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:42045026C>A	ENST00000220809.4	-	6	685	c.429G>T	c.(427-429)gaG>gaT	p.E143D	PLAT_ENST00000270189.6_Missense_Mutation_p.E143D|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.E143D|PLAT_ENST00000352041.3_Missense_Mutation_p.E97D	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	143	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGGCGCCACTCTCCGCTGTGC	0.652																																																	0													51	44	46					8																	42045026		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.429G>T	8.37:g.42045026C>A	ENSP00000220809:p.Glu143Asp		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E143D	ENST00000220809.4	37	c.429	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	C	7.387	0.630046	0.14257	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523;ENST00000521694	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.95	-11.1	0.00147	Kringle (4);Kringle-like fold (1);	0.411591	0.30159	N	0.010266	T	0.47728	0.1461	L	0.55213	1.73	0.09310	N	0.999998	B;B;B	0.18741	0.03;0.006;0.002	B;B;B	0.19946	0.027;0.008;0.022	T	0.18871	-1.0323	10	0.21540	T	0.41	.	10.0361	0.42129	0.0:0.2459:0.2829:0.4712	.	143;97;143	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	D	143;143;143;97;143;143	ENSP00000270189:E143D;ENSP00000392045:E143D;ENSP00000220809:E143D;ENSP00000270188:E97D;ENSP00000428797:E143D;ENSP00000429801:E143D	ENSP00000220809:E143D	E	-	3	2	PLAT	42164183	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-2.046000	0.01409	-1.959000	0.01018	0.655000	0.94253	GAG	PLAT	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	C	NM_000930		42045026	-1	no_errors	ENST00000220809	ensembl	human	known	70_37	missense	SNP	0.008	A	A	42045026	C	A	42045026	3	1	23	1	0	0	0	0	1	0	0	0	12045	912	32	3	1295	3	PLAT	8	42045026	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	11387880	42045026	104318996	43	3364										
PLEC	5339	genome.wustl.edu	37	chr8	144993180	144993180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcctggaagtcagccatcagCtgggcccgctgctcctcggg	14	15	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:144993180C>T	ENST00000322810.4	-	32	11389	c.11220G>A	c.(11218-11220)caG>caA	p.Q3740Q	PLEC_ENST00000356346.3_Silent_p.Q3589Q|PLEC_ENST00000354958.2_Silent_p.Q3581Q|PLEC_ENST00000436759.2_Silent_p.Q3630Q|PLEC_ENST00000527096.1_Silent_p.Q3626Q|PLEC_ENST00000398774.2_Silent_p.Q3571Q|PLEC_ENST00000345136.3_Silent_p.Q3603Q|PLEC_ENST00000357649.2_Silent_p.Q3607Q|PLEC_ENST00000354589.3_Silent_p.Q3603Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3740	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCATCAGCTGGGCCCGCT	0.622																																																	0													33	41	38					8																	144993180		2183	4269	6452	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11220G>A	8.37:g.144993180C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q3740	ENST00000322810.4	37	c.11220	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144993180	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.021	T	T	144993180	C	T	144993180	2	4	23	1	0	0	0	0	0	0	0	1	12076	796	28	4		4	PLEC	8	144993180	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	102948154	144993180	1370842	44	3365										
TRPM3	80036	genome.wustl.edu	37	chr9	73225620	73225620	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cttgctctgaacttcctcttCatccttcttcctggaggact	6	14	4	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:73225620C>T	ENST00000377111.2	-	18	2779	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	TRPM3_ENST00000408909.2_Missense_Mutation_p.E705K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E695K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E846K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E850K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E693K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E873K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E708K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E718K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E705K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E708K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E718K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	871					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTTCCTCTTCATCCTTCTTC	0.473																																																	0													229	195	206					9																	73225620		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2536G>A	9.37:g.73225620C>T	ENSP00000366315:p.Glu846Lys		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E873K	ENST00000377111.2	37	c.2617		9	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577135	0.86645	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.17	6.17	0.99709	.	0.057641	0.64402	D	0.000001	T	0.66839	0.2830	M	0.64170	1.965	0.50632	D	0.999882	B;B;P;B;B;P;B;B	0.38617	0.074;0.017;0.64;0.161;0.044;0.561;0.005;0.004	B;B;B;B;B;B;B;B	0.40825	0.062;0.023;0.341;0.045;0.028;0.281;0.061;0.007	T	0.64626	-0.6363	10	0.44086	T	0.13	-22.9909	20.8794	0.99867	0.0:1.0:0.0:0.0	.	846;846;836;850;708;705;818;693	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	K	846;846;718;708;705;850;705;693;718;708;873	ENSP00000366315:E846K;ENSP00000366314:E846K;ENSP00000366310:E718K;ENSP00000354066:E708K;ENSP00000366309:E705K;ENSP00000350140:E850K;ENSP00000386127:E705K;ENSP00000379581:E693K;ENSP00000379587:E718K;ENSP00000350791:E708K;ENSP00000389542:E873K	ENSP00000350140:E850K	E	-	1	0	TRPM3	72415440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	TRPM3	-	NULL		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	C	NM_206945		73225620	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73225620	C	T	73225620	3	4	23	1	0	0	0	0	1	0	0	0	16618	835	29	1	2619	1	TRPM3	9	73225620	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		73225620	67987811	45	3366										
NTNG2	84628	genome.wustl.edu	37	chr9	135073615	135073615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gaagtccctggacaacgggcGcacctggcagccctaccagt	12	15	0	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:135073615G>A	ENST00000393229.3	+	3	1252	c.476G>A	c.(475-477)cGc>cAc	p.R159H	NTNG2_ENST00000393228.4_Missense_Mutation_p.R159H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R159H|NTNG2_ENST00000372179.3_Missense_Mutation_p.R159H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	159	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GACAACGGGCGCACCTGGCAG	0.662																																																	0													57	44	49					9																	135073615		2203	4300	6503	SO:0001583	missense	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.476G>A	9.37:g.135073615G>A	ENSP00000376921:p.Arg159His		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R159H	ENST00000393229.3	37	c.476	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994006	0.93167	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.47528	1.92;0.84;0.84;1.92	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	L	0.56769	1.78	0.54753	D	0.999985	D	0.76494	0.999	D	0.78314	0.991	T	0.66822	-0.5826	10	0.52906	T	0.07	.	17.7699	0.88489	0.0:0.0:1.0:0.0	.	159	Q96CW9	NTNG2_HUMAN	H	159	ENSP00000376921:R159H;ENSP00000376920:R159H;ENSP00000353888:R159H;ENSP00000361252:R159H	ENSP00000353888:R159H	R	+	2	0	NTNG2	134063436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.031000	0.88826	2.417000	0.82017	0.561000	0.74099	CGC	NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	G	NM_032536		135073615	1	no_errors	ENST00000360670	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135073615	G	A	135073615	3	1	23	1	0	0	0	0	1	0	0	0	10729	1087	38	2	482	2	NTNG2	9	135073615	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	61847995	135073615	6139816	46	3367										
UBAC1	10422	genome.wustl.edu	37	chr9	138847247	138847247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	atacttttgggatcttctaaGctcccatgagcacactgggg	10	10	2	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:138847247G>A	ENST00000371756.3	-	2	370	c.153C>T	c.(151-153)agC>agT	p.S51S		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	51	Ubiquitin-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GATCTTCTAAGCTCCCATGAG	0.433																																					NSCLC(78;973 1398 27381 29552 42415)												0													205	226	219					9																	138847247		2203	4300	6503	SO:0001819	synonymous_variant	10422			AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.153C>T	9.37:g.138847247G>A			O75500|Q9UMW7	Silent	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk	p.S51	ENST00000371756.3	37	c.153	CCDS35177.1	9																																																																																			UBAC1	-	NULL		0.433	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAC1	HGNC	protein_coding	OTTHUMT00000055034.1	G	NM_016172		138847247	-1	no_errors	ENST00000371756	ensembl	human	known	70_37	silent	SNP	1.000	A	A	138847247	G	A	138847247	2	1	23	1	0	0	0	0	0	0	0	1	16865	962	34	4		4	UBAC1	9	138847247	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	3773632	138847247	2366184	47	3368										
CLIC3	9022	genome.wustl.edu	37	chr9	139890114	139890114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cctcacctgcgcgtgtccacCgtggtgagggtgaaaggtac	14	12	1	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:139890114C>T	ENST00000494426.1	-	2	388	c.129G>A	c.(127-129)acG>acA	p.T43T	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	43	GST N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGTGTCCACCGTGGTGAGGG	0.711																																																	0													43	39	41					9																	139890114		2200	4298	6498	SO:0001819	synonymous_variant	9022			AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"Ion channels / Chloride channels : Intracellular"	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.129G>A	9.37:g.139890114C>T			Q5SPZ7	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel	p.T43	ENST00000494426.1	37	c.129	CCDS7021.1	9																																																																																			CLIC3	-	superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel		0.711	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC3	HGNC	protein_coding	OTTHUMT00000055173.2	C	NM_004669		139890114	-1	no_errors	ENST00000494426	ensembl	human	known	70_37	silent	SNP	0.018	T	T	139890114	C	T	139890114	2	4	23	1	0	0	0	0	0	0	0	1	3532	639	23	2		2	CLIC3	9	139890114	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	1042867	139890114	1323317	48	3369										
UPF2	26019	genome.wustl.edu	37	chr10	11994158	11994158	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gatctttggtcttagcagttCtagtgtatcactgatcatgt	9	7	5	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:11994158C>G	ENST00000356352.2	-	14	3414	c.2941G>C	c.(2941-2943)Gaa>Caa	p.E981Q	UPF2_ENST00000357604.5_Missense_Mutation_p.E981Q|UPF2_ENST00000397053.2_Missense_Mutation_p.E981Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	981	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTAGCAGTTCTAGTGTATCA	0.368																																																	0													176	171	173					10																	11994158		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2941G>C	10.37:g.11994158C>G	ENSP00000348708:p.Glu981Gln		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E981Q	ENST00000356352.2	37	c.2941	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145002	0.77888	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.26518	1.73;1.73;1.73	5.48	5.48	0.80851	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.62088	1.915	0.80722	D	1	D	0.58970	0.984	P	0.50082	0.63	T	0.04090	-1.0978	10	0.27082	T	0.32	.	19.7018	0.96057	0.0:1.0:0.0:0.0	.	981	Q9HAU5	RENT2_HUMAN	Q	981	ENSP00000348708:E981Q;ENSP00000350221:E981Q;ENSP00000380244:E981Q	ENSP00000348708:E981Q	E	-	1	0	UPF2	12034164	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	GAA	UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			11994158	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11994158	C	G	11994158	3	3	23	1	0	0	0	0	1	0	0	0	17035	922	32	1	909	1	UPF2	10	11994158	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		11994158	123540589	49	3370										
KIF5B	3799	genome.wustl.edu	37	chr10	32307041	32307041	+	Frame_Shift_Del	DEL	T	T	-													0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gaaaggagattttttgcttcTgagcagcgctgcctccggtg							TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:32307041delT	ENST00000302418.4	-	23	2940	c.2483delA	c.(2482-2484)cagfs	p.Q828fs	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	828					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTTTTGCTTCTGAGCAGCGCT	0.353			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													93	98	97					10																	32307041		2203	4300	6503	SO:0001589	frameshift_variant	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2483delA	10.37:g.32307041delT	ENSP00000307078:p.Gln828fs		A0AVB2|Q5VZ85	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q828fs	ENST00000302418.4	37	c.2483	CCDS7171.1	10																																																																																			KIF5B	-	NULL		0.353	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	T	NM_004521		32307041	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	32307041	T	-	32307041	7	5	23	1	0	1	0	1	0	0	0	0	8326	1580	55	0	420	0	KIF5B	10	32307041	Frame_Shift_Del	DEL	T	TCGA-C5-A1MJ-01A-11D-A14W-08	20312883	32307041	103227706	50	3371										
SLC18A2	6571	genome.wustl.edu	37	chr10	119029903	119029903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	catggctcatgacaattattGggataattgatattcttttt	7	5	2	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:119029903G>A	ENST00000298472.5	+	15	1512	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	457					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GACAATTATTGGGATAATTGA	0.388																																																	0													203	188	193					10																	119029903		2203	4300	6503	SO:0001583	missense	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1369G>A	10.37:g.119029903G>A	ENSP00000298472:p.Gly457Arg		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G457R	ENST00000298472.5	37	c.1369	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961417	0.92791	.	.	ENSG00000165646	ENST00000298472	D	0.82619	-1.63	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92802	0.6257	10	0.87932	D	0	-11.4815	19.4009	0.94629	0.0:0.0:1.0:0.0	.	457	Q05940	VMAT2_HUMAN	R	457	ENSP00000298472:G457R	ENSP00000298472:G457R	G	+	1	0	SLC18A2	119019893	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.845000	0.99498	2.568000	0.86640	0.462000	0.41574	GGG	SLC18A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	G	NM_003054		119029903	1	no_errors	ENST00000298472	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119029903	G	A	119029903	3	1	23	1	0	0	0	0	1	0	0	0	14456	1348	47	4	1423	4	SLC18A2	10	119029903	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	86722862	119029903	16504844	51	3372										
DOCK1	1793	genome.wustl.edu	37	chr10	128795093	128795093	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	actagcacgattagtctcttCagagctcatgaaatagcttc	7	10	3	2	rs554024311	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:128795093C>T	ENST00000280333.6	+	7	664	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	185					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTAGTCTCTTCAGAGCTCATG	0.358													C|||	2	0.000399361	0	0	5008	,	,		20589	0		0	False		,,,				2504	0.002																0													197	188	191					10																	128795093		1847	4098	5945	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.555C>T	10.37:g.128795093C>T			A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.F185	ENST00000280333.6	37	c.555		10																																																																																			DOCK1	-	NULL		0.358	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		128795093	1	no_errors	ENST00000280333	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128795093	C	T	128795093	2	4	23	1	0	0	0	0	0	0	0	1	4694	825	29	1		1	DOCK1	10	128795093	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	9765190	128795093	6739654	52	3373										
KNDC1	85442	genome.wustl.edu	37	chr10	134980891	134980891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gccggtcttggcaggagaacGtgtctctggctgacatcctc	13	12	2	2	rs149750022		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:134980891G>A	ENST00000304613.3	+	2	130	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.V37M|KNDC1_ENST00000368571.2_5'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	37	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCAGGAGAACGTGTCTCTGGC	0.706																																																	0								G	MET/VAL	0,4388		0,0,2194	19	18	18		109	4	1	10	dbSNP_134	18	2,8562		0,2,4280	yes	missense	KNDC1	NM_152643.6	21	0,2,6474	AA,AG,GG		0.0234,0.0,0.0154	possibly-damaging	37/1750	134980891	2,12950	2194	4282	6476	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.109G>A	10.37:g.134980891G>A	ENSP00000304437:p.Val37Met		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V37M	ENST00000304613.3	37	c.109	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	.	15.76	2.928548	0.52759	0.0	2.34E-4	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.31247	1.5;1.5	3.98	3.98	0.46160	KIND (2);	0.000000	0.45606	D	0.000345	T	0.51652	0.1687	M	0.62723	1.935	0.48511	D	0.999665	D	0.89917	1.0	D	0.85130	0.997	T	0.56751	-0.7927	10	0.87932	D	0	-16.3584	13.9112	0.63869	0.0:0.0:1.0:0.0	.	37	Q76NI1	VKIND_HUMAN	M	37	ENSP00000304437:V37M;ENSP00000357561:V37M	ENSP00000304437:V37M	V	+	1	0	KNDC1	134830881	1.000000	0.71417	0.991000	0.47740	0.199000	0.23934	9.225000	0.95219	1.946000	0.56461	0.205000	0.17691	GTG	KNDC1	-	smart_KIND		0.706	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	G	NM_152643		134980891	1	no_errors	ENST00000368572	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134980891	G	A	134980891	3	1	23	1	0	0	0	0	1	0	0	0	8446	1145	40	2	115	2	KNDC1	10	134980891	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	6185798	134980891	553856	53	3374										
TUBGCP2	10844	genome.wustl.edu	37	chr10	135094896	135094896	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aacttgttgatggtggcctcGaagccggacaccagctgcac	12	12	0	1	rs370230871		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:135094896G>A	ENST00000252936.3	-	16	2493	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	TUBGCP2_ENST00000543663.1_Silent_p.F846F|TUBGCP2_ENST00000368563.2_Silent_p.F818F|TUBGCP2_ENST00000368562.1_Silent_p.F411F|TUBGCP2_ENST00000417178.2_Silent_p.F688F			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	818					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGGTGGCCTCGAAGCCGGACA	0.612																																																	0													112	91	98					10																	135094896		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2454C>T	10.37:g.135094896G>A			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.F846	ENST00000252936.3	37	c.2538	CCDS7676.1	10																																																																																			TUBGCP2	-	NULL		0.612	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	G			135094896	-1	no_errors	ENST00000543663	ensembl	human	known	70_37	silent	SNP	0.894	A	A	135094896	G	A	135094896	2	1	23	1	0	0	0	0	0	0	0	1	16797	1049	37	1		1	TUBGCP2	10	135094896	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	114005	135094896	439851	54	3375										
E2F8	79733	genome.wustl.edu	37	chr11	19255959	19255959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tggtcctccccaattaaaatCttggcagcaacttctaggct	7	12	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:19255959C>G	ENST00000527884.1	-	6	1108	c.876G>C	c.(874-876)aaG>aaC	p.K292N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.K292N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	292					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAATTAAAATCTTGGCAGCAA	0.388																																																	0													176	180	179					11																	19255959		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.876G>C	11.37:g.19255959C>G	ENSP00000434199:p.Lys292Asn		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.K292N	ENST00000527884.1	37	c.876	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575059	0.65878	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.24723	1.84;1.84	5.37	3.26	0.37387	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	L	0.54965	1.715	0.58432	D	0.999996	P	0.52463	0.953	D	0.65684	0.937	T	0.20240	-1.0281	10	0.72032	D	0.01	-21.1653	4.2769	0.10813	0.0:0.5335:0.0:0.4665	.	292	A0AVK6	E2F8_HUMAN	N	292	ENSP00000434199:K292N;ENSP00000250024:K292N	ENSP00000250024:K292N	K	-	3	2	E2F8	19212535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.263000	0.51546	1.278000	0.44430	0.655000	0.94253	AAG	E2F8	-	pfam_E2F_TDP		0.388	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	C	NM_024680		19255959	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19255959	C	G	19255959	3	3	23	1	0	0	0	0	1	0	0	0	4883	912	32	1	1759	1	E2F8	11	19255959	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		19255959	115750557	55	3376										
SLC1A2	6506	genome.wustl.edu	37	chr11	35336587	35336587	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tacctgtgattaagctggagAtgattagagggagaatgagc	14	4	0	6			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:35336587A>T	ENST00000278379.3	-	3	575	c.293T>A	c.(292-294)aTc>aAc	p.I98N	SLC1A2_ENST00000395750.1_Missense_Mutation_p.I89N|SLC1A2_ENST00000606205.1_Missense_Mutation_p.I98N|SLC1A2_ENST00000395753.1_Missense_Mutation_p.I89N	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	98					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TAAGCTGGAGATGATTAGAGG	0.448																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0													142	135	138					11																	35336587		2202	4298	6500	SO:0001583	missense	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.293T>A	11.37:g.35336587A>T	ENSP00000278379:p.Ile98Asn		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.I98N	ENST00000278379.3	37	c.293	CCDS31459.1	11	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297092	0.81025	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.66	5.66	0.87406	.	0.042787	0.85682	D	0.000000	T	0.78941	0.4363	M	0.89214	3.015	0.80722	D	1	D;D	0.60160	0.978;0.987	P;D	0.65323	0.905;0.934	D	0.83533	0.0092	10	0.87932	D	0	-19.8333	15.8792	0.79189	1.0:0.0:0.0:0.0	.	98;98	B4DQE9;P43004	.;EAA2_HUMAN	N	98;89;89;94	ENSP00000278379:I98N;ENSP00000379099:I89N;ENSP00000379102:I89N;ENSP00000406133:I94N	ENSP00000278379:I98N	I	-	2	0	SLC1A2	35293163	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.295000	0.96095	2.159000	0.67721	0.459000	0.35465	ATC	SLC1A2	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.448	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	A	NM_004171		35336587	-1	no_errors	ENST00000278379	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35336587	A	T	35336587	3	4	23	1	0	0	0	0	1	0	0	0	14462	333	12	5	1467	5	SLC1A2	11	35336587	Missense_Mutation	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	16080628	35336587	99669929	56	3377										
MDK	4192	genome.wustl.edu	37	chr11	46403873	46403873	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	agaagggcggcccggggagcGagtgcgctgagtgggcctgg	22	9	0	2	rs533427797		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:46403873G>C	ENST00000405308.2	+	3	535	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	MDK_ENST00000395569.4_Intron|MDK_ENST00000407067.1_Missense_Mutation_p.E36Q|MDK_ENST00000395566.4_Missense_Mutation_p.E36Q|MDK_ENST00000395565.1_Missense_Mutation_p.E36Q|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000359803.3_Missense_Mutation_p.E36Q	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	36					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		CCCGGGGAGCGAGTGCGCTGA	0.701																																																	0													14	19	17					11																	46403873		2150	4199	6349	SO:0001583	missense	4192				CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.106G>C	11.37:g.46403873G>C	ENSP00000385451:p.Glu36Gln		Q2LEK4|Q9UCC7	Missense_Mutation	SNP	pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.E36Q	ENST00000405308.2	37	c.106	CCDS7919.1	11	.	.	.	.	.	.	.	.	.	.	g	15.71	2.912913	0.52439	.	.	ENSG00000110492	ENST00000405308;ENST00000441869;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.33	1.33	0.21861	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.34164	0.0888	L	0.52573	1.65	0.30462	N	0.774169	P;B;B	0.39181	0.663;0.146;0.036	B;B;B	0.37508	0.252;0.038;0.023	T	0.34354	-0.9832	8	0.66056	D	0.02	.	6.5789	0.22583	0.2292:0.1302:0.6406:0.0	.	36;36;36	C9JHA4;E9PLM6;P21741	.;.;MK_HUMAN	Q	36	.	ENSP00000352852:E36Q	E	+	1	0	MDK	46360449	0.574000	0.26684	0.147000	0.22382	0.048000	0.14542	0.923000	0.28757	0.182000	0.20032	-0.141000	0.14075	GAG	MDK	-	pfam_Midkine_heparin-bd_GF_N,superfamily_Midkine_heparin-bd_GF_diS,prints_Midkine_heparin-bd_GF		0.701	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MDK	HGNC	protein_coding	OTTHUMT00000317546.2	G	NM_001012334		46403873	1	no_errors	ENST00000489525	ensembl	human	known	70_37	missense	SNP	0.705	C	C	46403873	G	C	46403873	3	2	23	1	0	0	0	0	1	0	0	0	9434	1059	37	1	112	1	MDK	11	46403873	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	11067286	46403873	88602643	57	3378										
MRPL21	219927	genome.wustl.edu	37	chr11	68663993	68663993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gtggtctcaccttctccagtCgaattctctctccacacgca	6	16	4	0	rs143584803		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:68663993C>T	ENST00000362034.2	-	4	395	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	MRPL21_ENST00000450904.2_Missense_Mutation_p.R44Q|MRPL21_ENST00000567045.1_Missense_Mutation_p.R44Q	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	129					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTCTCCAGTCGAATTCTCTC	0.537																																																	0								C	GLN/ARG,GLN/ARG	3,4397	6.2+/-15.9	0,3,2197	162	157	158		386,131	4.3	0.4	11	dbSNP_134	158	0,8588		0,0,4294	no	missense,missense	MRPL21	NM_181514.1,NM_181515.1	43,43	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	129/206,44/121	68663993	3,12985	2200	4294	6494	SO:0001583	missense	219927			AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"Mitochondrial ribosomal proteins / large subunits"	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.386G>A	11.37:g.68663993C>T	ENSP00000354580:p.Arg129Gln		A6NKU0|C9JPR2	Missense_Mutation	SNP	pfam_Ribosomal_L21,tigrfam_Ribosomal_L21	p.R129Q	ENST00000362034.2	37	c.386	CCDS8186.1	11	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179413	0.57800	6.82E-4	0.0	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	5.26	4.35	0.52113	.	0.110264	0.64402	N	0.000007	T	0.63965	0.2556	L	0.42245	1.32	0.53005	D	0.999967	D;D	0.71674	0.977;0.998	P;D	0.65874	0.64;0.939	T	0.63346	-0.6658	9	0.48119	T	0.1	-18.1726	9.1	0.36662	0.0:0.8309:0.0:0.1691	.	129;129	B4DXI4;Q7Z2W9	.;RM21_HUMAN	Q	44;129;129	.	ENSP00000354580:R129Q	R	-	2	0	MRPL21	68420569	0.918000	0.31147	0.415000	0.26534	0.244000	0.25665	2.780000	0.47742	1.215000	0.43411	0.655000	0.94253	CGA	MRPL21	-	pfam_Ribosomal_L21,tigrfam_Ribosomal_L21		0.537	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL21	HGNC	protein_coding	OTTHUMT00000396856.1	C	NM_181512		68663993	-1	no_errors	ENST00000362034	ensembl	human	known	70_37	missense	SNP	0.991	T	T	68663993	C	T	68663993	3	4	23	1	0	0	0	0	1	0	0	0	9810	884	31	1	247	1	MRPL21	11	68663993	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	22260120	68663993	66342523	58	3379										
PIWIL4	143689	genome.wustl.edu	37	chr11	94337148	94337148	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	caaaattaatctttttatgtAgcataaaagtacaagaaaat	4	4	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:94337148A>G	ENST00000299001.6	+	13	1776		c.e13-1		RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTTTTATGTAGCATAAAAGT	0.303																																																	0													74	75	74					11																	94337148		2200	4295	6495	SO:0001630	splice_region_variant	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1566-1A>G	11.37:g.94337148A>G			B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Splice_Site	SNP	-	e13-2	ENST00000299001.6	37	c.1566-2	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727706	0.69074	.	.	ENSG00000134627	ENST00000299001	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0261	0.64586	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIWIL4	93976796	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.194000	0.65125	2.148000	0.66965	0.533000	0.62120	.	PIWIL4	-	-		0.303	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	A	NM_152431	Intron	94337148	1	no_errors	ENST00000299001	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	94337148	A	G	94337148	5	3	23	1	0	0	0	0	0	0	1	0	11984	434	15	5	1614	5	PIWIL4	11	94337148	Splice_Site	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	25673155	94337148	40669368	59	3380										
KDM4D	55693	genome.wustl.edu	37	chr11	94731208	94731208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gaacatggccagcgcctggaAcgcctggccagggagctctt	14	13	1	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:94731208A>G	ENST00000335080.5	+	3	1504	c.672A>G	c.(670-672)gaA>gaG	p.E224E	KDM4D_ENST00000536741.1_Silent_p.E224E	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	224	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCGCCTGGAACGCCTGGCCA	0.592																																																	0													56	59	58					11																	94731208		2201	4298	6499	SO:0001819	synonymous_variant	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.672A>G	11.37:g.94731208A>G			B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E224	ENST00000335080.5	37	c.672	CCDS8302.1	11																																																																																			KDM4D	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.592	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	A	NM_018039		94731208	1	no_errors	ENST00000335080	ensembl	human	known	70_37	silent	SNP	0.338	G	G	94731208	A	G	94731208	2	3	23	1	0	0	0	0	0	0	0	1	8151	40	2	5		5	KDM4D	11	94731208	Silent	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	394060	94731208	40275308	60	3381										
C11orf65	160140	genome.wustl.edu	37	chr11	108277614	108277614	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctggaagttttgcataatttCtagggctgttagcacagaga	11	6	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:108277614C>T	ENST00000529391.1	-	4	314	c.305G>A	c.(304-306)aGa>aAa	p.R102K	C11orf65_ENST00000393084.1_Missense_Mutation_p.R102K|C11orf65_ENST00000526725.1_5'Flank|C11orf65_ENST00000525729.1_Missense_Mutation_p.R53K			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	102										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TGCATAATTTCTAGGGCTGTT	0.343																																																	0													97	99	99					11																	108277614		2201	4298	6499	SO:0001583	missense	160140			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.305G>A	11.37:g.108277614C>T	ENSP00000436400:p.Arg102Lys		B4DZU4|Q6PCA8	Missense_Mutation	SNP	NULL	p.R102K	ENST00000529391.1	37	c.305	CCDS8340.1	11	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638282	0.47153	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	.	.	.	5.4	4.5	0.54988	.	0.114908	0.56097	N	0.000024	T	0.27205	0.0667	L	0.35644	1.08	0.27678	N	0.946532	B;B	0.31705	0.154;0.336	B;B	0.26969	0.048;0.075	T	0.13124	-1.0521	9	0.19590	T	0.45	-28.0172	7.6469	0.28325	0.0:0.7505:0.0:0.2495	.	53;102	B4DZU4;Q8NCR3	.;CK065_HUMAN	K	53;102;102;84	.	ENSP00000376799:R102K	R	-	2	0	C11orf65	107782824	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.758000	0.38410	1.414000	0.47017	0.650000	0.86243	AGA	C11orf65	-	NULL		0.343	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	HGNC	protein_coding	OTTHUMT00000390010.3	C	NM_152587		108277614	-1	no_errors	ENST00000393084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108277614	C	T	108277614	3	4	23	1	0	0	0	0	1	0	0	0	1659	913	32	1	656	1	C11orf65	11	108277614	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	13546406	108277614	26728902	61	3382										
MCAM	4162	genome.wustl.edu	37	chr11	119185550	119185550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cagggtcacgcactgtagacGcggagctggatgcggtactc	15	11	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:119185550G>A	ENST00000264036.4	-	3	407	c.393C>T	c.(391-393)cgC>cgT	p.R131R	MCAM_ENST00000392814.1_5'Flank|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	131					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CACTGTAGACGCGGAGCTGGA	0.607																																																	0													45	51	49					11																	119185550		2199	4295	6494	SO:0001819	synonymous_variant	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.393C>T	11.37:g.119185550G>A			O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R131	ENST00000264036.4	37	c.393	CCDS31690.1	11																																																																																			MCAM	-	smart_Ig_sub		0.607	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	G			119185550	-1	no_errors	ENST00000264036	ensembl	human	known	70_37	silent	SNP	0.005	A	A	119185550	G	A	119185550	2	1	23	1	0	0	0	0	0	0	0	1	9391	1074	38	2		2	MCAM	11	119185550	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	10907936	119185550	15820966	62	3383										
C1S	716	genome.wustl.edu	37	chr12	7170342	7170342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttccaatgaagagcgttttaCggggtttgctgcatactatg	11	7	0	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:7170342C>T	ENST00000406697.1	+	7	990	c.362C>T	c.(361-363)aCg>aTg	p.T121M	C1S_ENST00000328916.3_Missense_Mutation_p.T121M|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.T121M			P09871	C1S_HUMAN	complement component 1, s subcomponent	121	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGCGTTTTACGGGGTTTGCT	0.438																																					GBM(156;750 1943 12971 24779 31015)												0													125	116	119					12																	7170342		2203	4300	6503	SO:0001583	missense	716				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.362C>T	12.37:g.7170342C>T	ENSP00000385035:p.Thr121Met		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T121M	ENST00000406697.1	37	c.362	CCDS31735.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742805	0.89573	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000403949	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.04	6.04	0.98038	CUB (5);	0.000000	0.43919	D	0.000511	T	0.66005	0.2746	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66941	-0.5796	10	0.72032	D	0.01	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	121	P09871	C1S_HUMAN	M	121;121;121;103;121	ENSP00000385035:T121M;ENSP00000328173:T121M;ENSP00000354057:T121M;ENSP00000384464:T121M	ENSP00000328173:T121M	T	+	2	0	C1S	7040603	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	5.941000	0.70195	2.873000	0.98535	0.561000	0.74099	ACG	C1S	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.438	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1	C	NM_001734		7170342	1	no_errors	ENST00000328916	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7170342	C	T	7170342	3	4	23	1	0	0	0	0	1	0	0	0	1979	536	19	2	372	2	C1S	12	7170342	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		7170342	126681553	63	3384										
A2M	2	genome.wustl.edu	37	chr12	9262517	9262517	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tccacctgatttcttctgtaCcaccaccttgtaggagccct	6	15	2	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:9262517C>G	ENST00000318602.7	-	6	926	c.619G>C	c.(619-621)Gta>Cta	p.V207L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	207					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCTTCTGTACCACCACCTTG	0.458																																																	0													128	140	136					12																	9262517		2189	4296	6485	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.619G>C	12.37:g.9262517C>G	ENSP00000323929:p.Val207Leu		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.V207L	ENST00000318602.7	37	c.619	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516978	0.44763	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.73681	-0.77	5.41	4.51	0.55191	Alpha-2-macroglobulin, N-terminal (1);	0.425749	0.23933	N	0.043132	T	0.71074	0.3297	M	0.73598	2.24	0.31033	N	0.717184	B	0.29886	0.26	B	0.27076	0.076	T	0.72253	-0.4347	10	0.46703	T	0.11	.	9.2365	0.37470	0.0:0.8989:0.0:0.1011	.	207	P01023	A2MG_HUMAN	L	207;222	ENSP00000323929:V207L	ENSP00000323929:V207L	V	-	1	0	A2M	9153784	0.975000	0.34042	0.994000	0.49952	0.877000	0.50540	1.458000	0.35223	1.250000	0.43966	0.561000	0.74099	GTA	A2M	-	pfam_A2M_N		0.458	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	C	NM_000014		9262517	-1	no_errors	ENST00000318602	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9262517	C	G	9262517	3	3	23	1	0	0	0	0	1	0	0	0	4	507	18	4	3929	4	A2M	12	9262517	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	2092175	9262517	124589378	64	3385										
TENC1	23371	genome.wustl.edu	37	chr12	53454245	53454245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gtgggcacagcacactgcctCggtctccccgagatgcccca	11	17	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:53454245C>T	ENST00000314250.6	+	19	2964	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	TENC1_ENST00000451358.1_Missense_Mutation_p.R882W|TENC1_ENST00000314276.3_Missense_Mutation_p.R902W|TENC1_ENST00000552570.1_Missense_Mutation_p.R892W|TENC1_ENST00000549700.1_Missense_Mutation_p.R827W|TENC1_ENST00000546602.1_Missense_Mutation_p.R795W|TENC1_ENST00000379902.3_Missense_Mutation_p.R768W	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	892	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CACACTGCCTCGGTCTCCCCG	0.647																																																	0													60	52	55					12																	53454245		2203	4300	6503	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2674C>T	12.37:g.53454245C>T	ENSP00000319684:p.Arg892Trp		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R902W	ENST00000314250.6	37	c.2704	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374803	0.61735	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94758	-3.46;-3.46;-3.46;-3.46;-3.51;-3.46;-3.49	4.69	4.69	0.59074	.	0.916272	0.09228	N	0.831009	D	0.94178	0.8132	N	0.24115	0.695	0.38810	D	0.955392	D;D;D;D	0.64830	0.993;0.993;0.99;0.994	P;P;P;P	0.59761	0.841;0.841;0.734;0.863	D	0.91638	0.5324	10	0.66056	D	0.02	-1.2334	13.3128	0.60390	0.0:1.0:0.0:0.0	.	892;795;892;902	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	W	768;902;892;882;795;892;827	ENSP00000369232:R768W;ENSP00000319756:R902W;ENSP00000319684:R892W;ENSP00000393362:R882W;ENSP00000449363:R795W;ENSP00000447021:R892W;ENSP00000449361:R827W	ENSP00000319684:R892W	R	+	1	2	TENC1	51740512	0.751000	0.28327	1.000000	0.80357	0.987000	0.75469	1.457000	0.35212	2.618000	0.88619	0.462000	0.41574	CGG	TENC1	-	NULL		0.647	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53454245	1	no_errors	ENST00000314276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53454245	C	T	53454245	3	4	23	1	0	0	0	0	1	0	0	0	15788	875	31	1	2857	1	TENC1	12	53454245	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	44191728	53454245	80397650	65	3386										
ERBB3	2065	genome.wustl.edu	37	chr12	56488256	56488256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tgtgagcagctgcccccatgGagtcctaggtgccaagggcc	14	13	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:56488256G>A	ENST00000267101.3	+	15	2215	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.G533E	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	592					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCCCCCATGGAGTCCTAGGT	0.537																																																	0													97	99	98					12																	56488256		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1775G>A	12.37:g.56488256G>A	ENSP00000267101:p.Gly592Glu		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G592E	ENST00000267101.3	37	c.1775	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688456	0.88639	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	D;D	0.88896	-2.44;-2.44	5.77	5.77	0.91146	Growth factor, receptor (1);	0.000000	0.64402	D	0.000005	D	0.94248	0.8153	M	0.83118	2.625	0.80722	D	1	D;B	0.89917	1.0;0.328	D;B	0.75484	0.986;0.073	D	0.94463	0.7678	10	0.87932	D	0	.	12.8107	0.57637	0.0785:0.0:0.9215:0.0	.	533;592	P21860-4;P21860	.;ERBB3_HUMAN	E	592;533	ENSP00000267101:G592E;ENSP00000408340:G533E	ENSP00000267101:G592E	G	+	2	0	ERBB3	54774523	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.490000	0.81461	2.737000	0.93849	0.561000	0.74099	GGA	ERBB3	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56488256	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56488256	G	A	56488256	3	1	23	1	0	0	0	0	1	0	0	0	5220	1174	41	1	1964	1	ERBB3	12	56488256	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	3034011	56488256	77363639	66	3387										
CCDC60	160777	genome.wustl.edu	37	chr12	119954432	119954432	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctcatattctcatcagatctGcagaagctcctggagatggt	9	10	4	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:119954432G>T	ENST00000327554.2	+	8	1353	c.888G>T	c.(886-888)ctG>ctT	p.L296L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	296										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CATCAGATCTGCAGAAGCTCC	0.532																																																	0													83	83	83					12																	119954432		2203	4300	6503	SO:0001819	synonymous_variant	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.888G>T	12.37:g.119954432G>T				Silent	SNP	NULL	p.L296	ENST00000327554.2	37	c.888	CCDS9190.1	12																																																																																			CCDC60	-	NULL		0.532	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	G	NM_178499		119954432	1	no_errors	ENST00000327554	ensembl	human	known	70_37	silent	SNP	1.000	T	T	119954432	G	T	119954432	2	4	23	1	0	0	0	0	0	0	0	1	2836	1306	46	4		4	CCDC60	12	119954432	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	63466176	119954432	13897463	67	3388										
KNTC1	9735	genome.wustl.edu	37	chr12	123057788	123057788	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttataagagtttacatgagaGaacatgacttgcaagaggag	11	4	0	5			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:123057788G>C	ENST00000333479.7	+	26	2416	c.2239G>C	c.(2239-2241)Gaa>Caa	p.E747Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.E710Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	747					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTACATGAGAGAACATGACTT	0.398																																																	0													172	170	170					12																	123057788		1844	4093	5937	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2239G>C	12.37:g.123057788G>C	ENSP00000328236:p.Glu747Gln		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E747Q	ENST00000333479.7	37	c.2239	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442030	0.25900	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.28069	1.63;2.23	5.66	5.66	0.87406	.	0.051442	0.85682	D	0.000000	T	0.23611	0.0571	L	0.38838	1.175	0.80722	D	1	P;P	0.45768	0.58;0.866	B;B	0.37550	0.253;0.173	T	0.02138	-1.1207	10	0.27785	T	0.31	-23.7505	14.6071	0.68486	0.0:0.2666:0.7334:0.0	.	710;747	E7ES84;P50748	.;KNTC1_HUMAN	Q	710;747	ENSP00000397992:E710Q;ENSP00000328236:E747Q	ENSP00000328236:E747Q	E	+	1	0	KNTC1	121623741	1.000000	0.71417	0.294000	0.24946	0.174000	0.22865	5.151000	0.64875	2.680000	0.91292	0.655000	0.94253	GAA	KNTC1	-	NULL		0.398	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123057788	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.960	C	C	123057788	G	C	123057788	3	2	23	1	0	0	0	0	1	0	0	0	8448	943	33	1	2337	1	KNTC1	12	123057788	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	3103356	123057788	10794107	68	3389										
TRIM9	114088	genome.wustl.edu	37	chr14	51446219	51446219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gtcaagttttttctatttaaGtcgaggaggaccccaattgt	9	7	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr14:51446219G>T	ENST00000298355.3	-	9	3077	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	TRIM9_ENST00000338969.5_Missense_Mutation_p.D733E	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	652	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTCTATTTAAGTCGAGGAGGA	0.448																																																	0													200	219	213					14																	51446219		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1956C>A	14.37:g.51446219G>T	ENSP00000298355:p.Asp652Glu		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.D733E	ENST00000298355.3	37	c.2199	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533622	0.85812	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	D;D	0.81996	-1.56;-1.56	5.89	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.983;0.998	D	0.91729	0.5395	10	0.87932	D	0	.	11.3507	0.49585	0.1387:0.0:0.8613:0.0	.	733;652	Q9C026-4;Q9C026	.;TRIM9_HUMAN	E	652;733	ENSP00000298355:D652E;ENSP00000342970:D733E	ENSP00000298355:D652E	D	-	3	2	TRIM9	50515969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.848000	0.55903	2.788000	0.95919	0.557000	0.71058	GAC	TRIM9	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.448	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51446219	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51446219	G	T	51446219	3	4	23	1	0	0	0	0	1	0	0	0	16580	1020	36	4	184	4	TRIM9	14	51446219	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		51446219	55903321	69	3390										
KTN1	3895	genome.wustl.edu	37	chr14	56139951	56139951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttcatattctgaagcagtaaGacagaatgaagagctaaatt	8	5	2	5			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr14:56139951G>C	ENST00000395314.3	+	40	3817	c.3749G>C	c.(3748-3750)aGa>aCa	p.R1250T	KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000416613.1_Missense_Mutation_p.R1250T|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395309.3_Missense_Mutation_p.R1250T|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000438792.2_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1250					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGCAGTAAGACAGAATGAA	0.378			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													86	84	85					14																	56139951		2203	4300	6503	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3749G>C	14.37:g.56139951G>C	ENSP00000378725:p.Arg1250Thr		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.R1250T	ENST00000395314.3	37	c.3749	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582831	0.86748	.	.	ENSG00000126777	ENST00000395309;ENST00000395314;ENST00000416613	T;T;T	0.33438	1.41;1.41;1.41	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000005	T	0.52805	0.1757	L	0.50333	1.59	0.58432	D	0.999997	D	0.69078	0.997	D	0.79784	0.993	T	0.38243	-0.9670	10	0.45353	T	0.12	-13.1045	20.3591	0.98849	0.0:0.0:1.0:0.0	.	1250	Q86UP2	KTN1_HUMAN	T	1250	ENSP00000378720:R1250T;ENSP00000378725:R1250T;ENSP00000388807:R1250T	ENSP00000378720:R1250T	R	+	2	0	KTN1	55209704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.816000	0.96949	0.561000	0.74099	AGA	KTN1	-	NULL		0.378	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56139951	1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56139951	G	C	56139951	3	2	23	1	0	0	0	0	1	0	0	0	8605	942	33	1	3903	1	KTN1	14	56139951	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	4693732	56139951	51209589	70	3391										
HERC2	8924	genome.wustl.edu	37	chr15	28525273	28525273	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttccacttaactttgacattCtcctgaaaaacggttctatt	4	10	2	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr15:28525273C>T	ENST00000261609.7	-	5	591	c.483G>A	c.(481-483)gaG>gaA	p.E161E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTGACATTCTCCTGAAAAA	0.458																																																	0													121	116	118					15																	28525273		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.483G>A	15.37:g.28525273C>T				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.E161	ENST00000261609.7	37	c.483	CCDS10021.1	15																																																																																			HERC2	-	NULL		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	C	NM_004667		28525273	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28525273	C	T	28525273	2	4	23	1	0	0	0	0	0	0	0	1	7078	912	32	1		1	HERC2	15	28525273	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		28525273	74006119	71	3392										
SRRM2	23524	genome.wustl.edu	37	chr16	2813800	2813801	+	Frame_Shift_Ins	INS	-	-	A													0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	atctctgcagagcaaatctcINSaaacatcacctaagggaggt							TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr16:2813800_2813801insA	ENST00000301740.8	+	11	3820_3821	c.3271_3272insA	c.(3271-3273)caafs	p.Q1091fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1091	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCAAATCTCAAACATCACCT	0.465																																																	0																																										SO:0001589	frameshift_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3274dupA	16.37:g.2813803_2813803dupA	ENSP00000301740:p.Gln1091fs		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	pfam_mRNA_splic_Cwf21	p.T1092fs	ENST00000301740.8	37	c.3271_3272	CCDS32373.1	16																																																																																			SRRM2	-	NULL		0.465	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-			2813801	1	no_errors	ENST00000301740	ensembl	human	known	70_37	frame_shift_ins	INS	0.969:0.793	A	A	2813801	-	A	2813800	7	5	23	1	0	1	1	0	0	0	0	0	15199	827	29	0	3309	0	SRRM2	16	2813800	Frame_Shift_Ins	INS	-	TCGA-C5-A1MJ-01A-11D-A14W-08		2813800	87540953	72	3393										
CES7	221223	genome.wustl.edu	37	chr16	55883536	55883536	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ggaagtggccagtcccttacCgaacataacaatgtccccct	8	14	0	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr16:55883536C>T	ENST00000290567.9	-	11	1544	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	CES5A_ENST00000518005.1_Splice_Site_p.E369K|CES5A_ENST00000520435.1_Splice_Site_p.E445K|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000521992.1_Splice_Site_p.E504K	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	475						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGTCCCTTACCGAACATAACA	0.532																																																	0													173	151	158					16																	55883536		1568	3582	5150	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1423+1G>A	16.37:g.55883536C>T			B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.E504K	ENST00000290567.9	37	c.1510	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	.	20.4	3.976774	0.74360	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.36	4.36	0.52297	Carboxylesterase, type B (1);	.	.	.	.	T	0.17534	0.0421	L	0.57536	1.79	0.34957	D	0.751823	D	0.67145	0.996	P	0.58391	0.838	T	0.03259	-1.1055	8	.	.	.	.	8.4256	0.32727	0.0:0.897:0.0:0.103	.	475	Q6NT32	EST5A_HUMAN	K	504;369;475;445;255	ENSP00000428864:E504K;ENSP00000428571:E369K;ENSP00000290567:E475K;ENSP00000428887:E445K	.	E	-	1	0	CES5A	54441037	0.985000	0.35326	0.999000	0.59377	0.906000	0.53458	2.668000	0.46816	2.698000	0.92095	0.655000	0.94253	GAA	CES5A	-	pfam_CarbesteraseB		0.532	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	C	NM_145024	Missense_Mutation	55883536	-1	no_errors	ENST00000521992	ensembl	human	known	70_37	missense	SNP	0.998	T	T	55883536	C	T	55883536	5	4	23	1	0	0	0	0	0	0	1	0	3277	666	23	2	316	2	CES7	16	55883536	Splice_Site	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	53069736	55883536	34471217	73	3394										
CX3CL1	6376	genome.wustl.edu	37	chr16	57416399	57416399	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gggctgaggcaaagacctctGaggccccgtccacccaggac	13	15	1	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr16:57416399G>A	ENST00000006053.6	+	3	760	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CX3CL1_ENST00000565912.1_Missense_Mutation_p.E179K|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E223K	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	217	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAAGACCTCTGAGGCCCCGTC	0.672																																																	0													39	41	40					16																	57416399		2198	4300	6498	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.649G>A	16.37:g.57416399G>A	ENSP00000006053:p.Glu217Lys		O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.E217K	ENST00000006053.6	37	c.649	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502807	0.44558	.	.	ENSG00000006210	ENST00000006053	T	0.05996	3.36	5.24	1.96	0.26148	.	42.502000	0.00166	N	0.000001	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	P	0.38148	0.62	B	0.32533	0.147	T	0.40683	-0.9550	10	0.87932	D	0	-22.4824	8.8397	0.35135	0.0912:0.1887:0.7201:0.0	.	217	P78423	X3CL1_HUMAN	K	217	ENSP00000006053:E217K	ENSP00000006053:E217K	E	+	1	0	CX3CL1	55973900	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.122000	0.15687	0.134000	0.18681	0.603000	0.83216	GAG	CX3CL1	-	prints_Chemokine_fractalkine_CX3CL1		0.672	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	G	NM_002996		57416399	1	no_errors	ENST00000006053	ensembl	human	known	70_37	missense	SNP	0.000	A	A	57416399	G	A	57416399	3	1	23	1	0	0	0	0	1	0	0	0	4079	1291	45	1	659	1	CX3CL1	16	57416399	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	1532863	57416399	32938354	74	3395										
ALKBH5	54890	genome.wustl.edu	37	chr17	18110256	18110256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tgaaacccaagcggtcccacCgcaaggcagaccctgatgct	10	15	0	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:18110256C>T	ENST00000399138.4	+	3	984	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	327					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GCGGTCCCACCGCAAGGCAGA	0.582																																					Ovarian(166;154 1953 40235 46283 46309)												0													146	151	149					17																	18110256		1938	4130	6068	SO:0001583	missense	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.979C>T	17.37:g.18110256C>T	ENSP00000382091:p.Arg327Cys		B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	NULL	p.R327C	ENST00000399138.4	37	c.979	CCDS42272.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049615	0.93740	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68640	-0.5355	9	0.87932	D	0	-20.6427	19.5182	0.95174	0.0:1.0:0.0:0.0	.	327	Q6P6C2-2	.	C	327;316;327	.	ENSP00000261650:R327C	R	+	1	0	ALKBH5	18050981	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.521000	0.73778	2.618000	0.88619	0.655000	0.94253	CGC	ALKBH5	-	NULL		0.582	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	C	NM_017758		18110256	1	no_errors	ENST00000399138	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18110256	C	T	18110256	3	4	23	1	0	0	0	0	1	0	0	0	530	652	23	2	989	2	ALKBH5	17	18110256	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		18110256	63084954	75	3396										
ULK2	9706	genome.wustl.edu	37	chr17	19746514	19746514	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	agccttagcatcataatgttGagacataataacctcaggag	8	8	2	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:19746514G>A	ENST00000395544.4	-	8	1064	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	ULK2_ENST00000361658.2_Nonsense_Mutation_p.Q189*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCATAATGTTGAGACATAATA	0.378																																																	0													149	149	149					17																	19746514		2203	4300	6503	SO:0001587	stop_gained	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.565C>T	17.37:g.19746514G>A	ENSP00000378914:p.Gln189*		A8MY69|O75119	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q189*	ENST00000395544.4	37	c.565	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.316856	0.99135	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-13.2979	18.5774	0.91159	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000354877:Q189X	Q	-	1	0	ULK2	19687106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.383000	0.97214	2.639000	0.89480	0.655000	0.94253	CAA	ULK2	-	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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom		0.378	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	G	NM_014683		19746514	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	19746514	G	A	19746514	4	1	23	1	0	0	0	0	0	1	0	0	17007	1299	45	1	2625	1	ULK2	17	19746514	Nonsense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	1636258	19746514	61448696	76	3397										
ERBB2	2064	genome.wustl.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251	204	220					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37868208	C	T	37868208	3	4	23	1	0	0	0	0	1	0	0	0	5218	855	30	1	959	1	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	18121694	37868208	43327002	77	3398										
KCTD2	23510	genome.wustl.edu	37	chr17	73043594	73043594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aacgtgggaggcacctacttCgtgaccaccagacagacctt	10	13	0	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:73043594C>G	ENST00000322444.6	+	1	255	c.249C>G	c.(247-249)ttC>ttG	p.F83L	KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_5'Flank|ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	83	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GCACCTACTTCGTGACCACCA	0.711																																																	0													26	27	26					17																	73043594		2203	4300	6503	SO:0001583	missense	23510			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.249C>G	17.37:g.73043594C>G	ENSP00000312814:p.Phe83Leu			Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.F83L	ENST00000322444.6	37	c.249	CCDS32728.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377450	0.82682	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.55052	0.54	4.23	2.12	0.27331	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.93763	3.455	0.58432	D	0.999999	D	0.61697	0.99	P	0.57009	0.811	T	0.80899	-0.1176	10	0.87932	D	0	.	13.7286	0.62774	0.0:0.7044:0.2956:0.0	.	83	Q14681	KCTD2_HUMAN	L	83;65	ENSP00000312814:F83L	ENSP00000312814:F83L	F	+	3	2	KCTD2	70555189	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.426000	0.44731	0.320000	0.23234	-0.337000	0.08149	TTC	KCTD2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.711	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD2	HGNC	protein_coding	OTTHUMT00000445538.1	C			73043594	1	no_errors	ENST00000322444	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73043594	C	G	73043594	3	3	23	1	0	0	0	0	1	0	0	0	8127	883	31	1	251	1	KCTD2	17	73043594	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	35175386	73043594	8151616	78	3399										
QRICH2	84074	genome.wustl.edu	37	chr17	74289415	74289415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	atatgcactgactgaaaccaGaccatgttggtctgtgctag	10	9	1	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:74289415G>C	ENST00000262765.5	-	4	1074	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	299										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACTGAAACCAGACCATGTTGG	0.478																																																	0													164	140	148					17																	74289415		2203	4300	6503	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.895C>G	17.37:g.74289415G>C	ENSP00000262765:p.Leu299Val		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.L299V	ENST00000262765.5	37	c.895	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	2.566	-0.300760	0.05495	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09817	2.94	3.46	-0.836	0.10770	.	.	.	.	.	T	0.08582	0.0213	L	0.56769	1.78	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.13407	0.009;0.003	T	0.42103	-0.9471	9	0.21014	T	0.42	-0.3304	1.3205	0.02115	0.1785:0.1181:0.3831:0.3203	.	299;299	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	299	ENSP00000262765:L299V	ENSP00000262765:L299V	L	-	1	2	QRICH2	71801010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.159000	0.03150	0.055000	0.16094	-0.388000	0.06559	CTG	QRICH2	-	NULL		0.478	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74289415	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.000	C	C	74289415	G	C	74289415	3	2	23	1	0	0	0	0	1	0	0	0	12910	933	33	1	4160	1	QRICH2	17	74289415	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	1245821	74289415	6905795	79	3400										
BAHCC1	57597	genome.wustl.edu	37	chr17	79409609	79409609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gccgccccttccaggccgccGaggcctgtgccgtggcaggg	16	17	0	0	rs374297742		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:79409609G>A	ENST00000307745.7	+	9	1234	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K																								CCAGGCCGCCGAGGCCTGTGC	0.692																																																	0									LYS/GLU	0,3846		0,0,1923	13	16	15		1063	3	1	17		15	1,8137		0,1,4068	no	missense	BAHCC1	NM_001080519.2	56	0,1,5991	AA,AG,GG		0.0123,0.0,0.0083	possibly-damaging	355/2552	79409609	1,11983	1923	4069	5992	SO:0001583	missense	57597																														ENST00000307745.7:c.1234G>A	17.37:g.79409609G>A	ENSP00000303486:p.Glu412Lys			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E412K	ENST00000307745.7	37	c.1234		17	.	.	.	.	.	.	.	.	.	.	g	15.30	2.792774	0.50102	0.0	1.23E-4	ENSG00000171282	ENST00000307745	T	0.12984	2.63	4.01	2.98	0.34508	.	.	.	.	.	T	0.10165	0.0249	L	0.29908	0.895	0.27233	N	0.959343	P	0.39404	0.672	B	0.30943	0.122	T	0.15235	-1.0444	9	0.62326	D	0.03	.	13.7118	0.62672	0.0:0.1707:0.8293:0.0	.	412	Q9P281	BAHC1_HUMAN	K	412	ENSP00000303486:E412K	ENSP00000303486:E412K	E	+	1	0	AC110285.1	77024204	0.999000	0.42202	0.974000	0.42286	0.105000	0.19272	1.832000	0.39151	2.101000	0.63845	0.282000	0.19409	GAG	BAHCC1	-	NULL		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79409609	1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.962	A	A	79409609	G	A	79409609	3	1	23	1	0	0	0	0	1	0	0	0	1297	1059	37	1	1083	1	BAHCC1	17	79409609	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	5120194	79409609	1785601	80	3401										
LPIN2	9663	genome.wustl.edu	37	chr18	2937748	2937748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttggattctgagggcgcctcCgctaaggctgcgttgggaag	16	9	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr18:2937748C>T	ENST00000261596.4	-	7	1348	c.1110G>A	c.(1108-1110)gcG>gcA	p.A370A		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	370					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGGGCGCCTCCGCTAAGGCTG	0.488																																																	0													73	73	73					18																	2937748		2203	4300	6503	SO:0001819	synonymous_variant	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1110G>A	18.37:g.2937748C>T			A7MD25|D3DUH3	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.A370	ENST00000261596.4	37	c.1110	CCDS11829.1	18																																																																																			LPIN2	-	NULL		0.488	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2937748	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	silent	SNP	0.000	T	T	2937748	C	T	2937748	2	4	23	1	0	0	0	0	0	0	0	1	8942	639	23	2		2	LPIN2	18	2937748	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08		2937748	75139500	81	3402										
DSG4	147409	genome.wustl.edu	37	chr18	28991196	28991196	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aacatcctcccttttcagaaAtctacaccaacacctatgca	2	15	2	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr18:28991196A>T	ENST00000308128.4	+	15	2275	c.2140A>T	c.(2140-2142)Atc>Ttc	p.I714F	DSG4_ENST00000359747.4_Missense_Mutation_p.I733F|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	714					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTTTCAGAAATCTACACCAA	0.612																																																	0													84	79	81					18																	28991196		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2140A>T	18.37:g.28991196A>T	ENSP00000311859:p.Ile714Phe		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I733F	ENST00000308128.4	37	c.2197	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383976	0.82792	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.56941	0.43;0.43	5.96	5.96	0.96718	.	0.000000	0.35466	N	0.003192	T	0.62466	0.2430	L	0.44542	1.39	0.48040	D	0.999579	D;D	0.65815	0.995;0.964	D;P	0.63113	0.911;0.737	T	0.59257	-0.7488	10	0.33141	T	0.24	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	733;714	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	F	714;733	ENSP00000311859:I714F;ENSP00000352785:I733F	ENSP00000311859:I714F	I	+	1	0	DSG4	27245194	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.039000	0.57325	2.271000	0.75665	0.528000	0.53228	ATC	DSG4	-	NULL		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	A	NM_177986		28991196	1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28991196	A	T	28991196	3	4	23	1	0	0	0	0	1	0	0	0	4789	101	4	5	2319	5	DSG4	18	28991196	Missense_Mutation	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	26053448	28991196	49086052	82	3403										
DYM	54808	genome.wustl.edu	37	chr18	46570541	46570541	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aaactcctcgggctgctcctCttccacatatttgaatttca	5	13	2	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr18:46570541C>G	ENST00000269445.6	-	17	2351	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.E442Q	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	632					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGCTGCTCCTCTTCCACATAT	0.423																																																	0													104	118	113					18																	46570541		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1894G>C	18.37:g.46570541C>G	ENSP00000269445:p.Glu632Gln		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.E632Q	ENST00000269445.6	37	c.1894	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894451	0.91889	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.85088	-1.94;-1.94	5.91	5.91	0.95273	.	0.125910	0.51477	D	0.000099	D	0.93259	0.7852	M	0.83384	2.64	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.81914	0.979;0.995	D	0.93296	0.6672	10	0.72032	D	0.01	-14.0644	19.9089	0.97019	0.0:1.0:0.0:0.0	.	442;632	Q7RTS9-2;Q7RTS9	.;DYM_HUMAN	Q	442;632	ENSP00000395942:E442Q;ENSP00000269445:E632Q	ENSP00000269445:E632Q	E	-	1	0	DYM	44824539	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.635000	0.83286	2.793000	0.96121	0.655000	0.94253	GAG	DYM	-	pfam_Dymeclin		0.423	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	C	NM_017653		46570541	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46570541	C	G	46570541	3	3	23	1	0	0	0	0	1	0	0	0	4850	922	32	1	119	1	DYM	18	46570541	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	17579345	46570541	31506707	83	3404										
OR1M1	125963	genome.wustl.edu	37	chr19	9204406	9204406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	tcactcactcacatcctcctGatggcccgtctcgttttctg	6	16	5	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:9204406G>A	ENST00000429566.3	+	1	552	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACATCCTCCTGATGGCCCGTC	0.577																																																	0													115	93	100					19																	9204406		2203	4300	6503	SO:0001819	synonymous_variant	125963				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.486G>A	19.37:g.9204406G>A			B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L162	ENST00000429566.3	37	c.486	CCDS32896.1	19																																																																																			OR1M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	G			9204406	1	no_errors	ENST00000429566	ensembl	human	known	70_37	silent	SNP	0.001	A	A	9204406	G	A	9204406	2	1	23	1	0	0	0	0	0	0	0	1	10992	1277	45	1		1	OR1M1	19	9204406	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		9204406	49924577	84	3405										
NCAN	1463	genome.wustl.edu	37	chr19	19360596	19360596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cagacgttcacatcggatgcGgcgacaccaccaccaccacc	8	18	1	1	rs370283222		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:19360596G>A	ENST00000252575.6	+	15	3941	c.3842G>A	c.(3841-3843)cGg>cAg	p.R1281Q	NCAN_ENST00000538881.1_Missense_Mutation_p.R732Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1281					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CATCGGATGCGGCGAcaccac	0.597																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	344	263	290		3842	4.6	0.6	19		290	0,8600		0,0,4300	no	missense	NCAN	NM_004386.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1281/1322	19360596	1,13005	2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3842G>A	19.37:g.19360596G>A	ENSP00000252575:p.Arg1281Gln		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.R1281Q	ENST00000252575.6	37	c.3842	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759899	0.69763	2.27E-4	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86366	-1.9;-2.11	5.65	4.6	0.57074	.	0.218632	0.23420	N	0.048375	D	0.84488	0.5483	L	0.29908	0.895	0.18873	N	0.999988	D	0.71674	0.998	P	0.52514	0.701	T	0.75772	-0.3200	10	0.27082	T	0.32	-27.8088	12.5872	0.56424	0.0:0.1668:0.8332:0.0	.	1281	O14594	NCAN_HUMAN	Q	1295;1281;732	ENSP00000252575:R1281Q;ENSP00000442202:R732Q	ENSP00000252575:R1281Q	R	+	2	0	NCAN	19221596	1.000000	0.71417	0.560000	0.28344	0.756000	0.42949	4.957000	0.63652	1.365000	0.46057	0.549000	0.68633	CGG	NCAN	-	NULL		0.597	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19360596	1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.356	A	A	19360596	G	A	19360596	3	1	23	1	0	0	0	0	1	0	0	0	10228	1116	39	2	3896	2	NCAN	19	19360596	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	10156190	19360596	39768387	85	3406										
ZFP36	7538	genome.wustl.edu	37	chr19	39898462	39898462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	cagcccaggctggggctcctCgggaccctggagcctgagcc	15	16	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:39898462C>T	ENST00000248673.3	+	2	162	c.104C>T	c.(103-105)tCg>tTg	p.S35L	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.S41L|ZFP36_ENST00000594045.1_3'UTR	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	35					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGGCTCCTCGGGACCCTGG	0.697																																					NSCLC(67;1164 1324 12056 21056 30097)												0													46	53	51					19																	39898462		2202	4298	6500	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.104C>T	19.37:g.39898462C>T	ENSP00000248673:p.Ser35Leu		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S41L	ENST00000248673.3	37	c.122		19	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955058	0.34471	.	.	ENSG00000128016	ENST00000248673	T	0.19105	2.17	3.68	1.2	0.21068	.	2.363590	0.02222	U	0.064120	T	0.15782	0.0380	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	10	0.48119	T	0.1	0.2064	7.0963	0.25311	0.0:0.6949:0.189:0.1161	.	35	P26651	TTP_HUMAN	L	35	ENSP00000248673:S35L	ENSP00000248673:S35L	S	+	2	0	ZFP36	44590302	.	.	0.167000	0.22817	0.982000	0.71751	.	.	0.719000	0.32188	0.478000	0.44815	TCG	ZFP36	-	NULL		0.697	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		C			39898462	1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39898462	C	T	39898462	3	4	23	1	0	0	0	0	1	0	0	0	17675	893	31	1	110	1	ZFP36	19	39898462	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	20537866	39898462	19230521	86	3407										
ZNF546	339327	genome.wustl.edu	37	chr19	40513243	40513243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gaggagtgggagtgcctggaCgctgtgcagagggacttgta	19	6	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:40513243C>T	ENST00000347077.4	+	5	450	c.234C>T	c.(232-234)gaC>gaT	p.D78D	ZNF546_ENST00000600094.1_Silent_p.D52D|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D78D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTGCCTGGACGCTGTGCAGA	0.423																																																	1	Substitution - coding silent(1)	ovary(1)											133	116	122					19																	40513243		2203	4300	6503	SO:0001819	synonymous_variant	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.234C>T	19.37:g.40513243C>T			A8K913	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D78	ENST00000347077.4	37	c.234	CCDS12548.1	19																																																																																			ZNF546	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	C	NM_178544		40513243	1	no_errors	ENST00000347077	ensembl	human	known	70_37	silent	SNP	0.040	T	T	40513243	C	T	40513243	2	4	23	1	0	0	0	0	0	0	0	1	18008	535	19	2		2	ZNF546	19	40513243	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	614781	40513243	18615740	87	3408										
CIC	23152	genome.wustl.edu	37	chr19	42793213	42793213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcctggacggcggagaagtaGacagtcaggcgctacaggaa	16	9	1	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:42793213G>C	ENST00000575354.2	+	7	1145	c.1105G>C	c.(1105-1107)Gac>Cac	p.D369H	CIC_ENST00000572681.2_Missense_Mutation_p.D1278H|CIC_ENST00000160740.3_Missense_Mutation_p.D369H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGAGAAGTAGACAGTCAGGC	0.667			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													46	50	49					19																	42793213		2203	4299	6502	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1105G>C	19.37:g.42793213G>C	ENSP00000458663:p.Asp369His		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D369H	ENST00000575354.2	37	c.1105	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419439	0.25552	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.76	3.73	0.42828	.	.	.	.	.	T	0.51466	0.1676	N	0.14661	0.345	0.38486	D	0.947854	D	0.76494	0.999	P	0.61328	0.887	T	0.60840	-0.7183	8	0.87932	D	0	-20.5016	12.2832	0.54776	0.0:0.0:0.8292:0.1708	.	369	Q96RK0	CIC_HUMAN	H	369	.	ENSP00000160740:D369H	D	+	1	0	CIC	47485053	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.351000	0.73022	1.242000	0.43836	-0.234000	0.12200	GAC	CIC	-	NULL		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42793213	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42793213	G	C	42793213	3	2	23	1	0	0	0	0	1	0	0	0	3429	942	33	1	1131	1	CIC	19	42793213	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	2279970	42793213	16335770	88	3409										
CACNG7	59284	genome.wustl.edu	37	chr19	54418743	54418743	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ctggcttttgtctctggcatCttcttcatactatcgggtga	9	10	4	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:54418743C>G	ENST00000391767.1	+	4	620	c.408C>G	c.(406-408)atC>atG	p.I136M	CACNG7_ENST00000391766.1_Missense_Mutation_p.I136M|CACNG7_ENST00000222212.2_Missense_Mutation_p.I136M|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	136					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCTCTGGCATCTTCTTCATAC	0.557																																																	0													112	101	105					19																	54418743		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.408C>G	19.37:g.54418743C>G	ENSP00000375647:p.Ile136Met		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.I136M	ENST00000391767.1	37	c.408	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265470	0.59431	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.92397	-3.03;-3.03;-3.03	3.91	3.91	0.45181	.	0.110577	0.64402	D	0.000015	D	0.94876	0.8344	M	0.80332	2.49	0.58432	D	0.999993	D	0.52996	0.957	P	0.59221	0.854	D	0.94630	0.7821	10	0.49607	T	0.09	-18.4271	14.2221	0.65833	0.0:1.0:0.0:0.0	.	136	P62955	CCG7_HUMAN	M	136	ENSP00000375647:I136M;ENSP00000222212:I136M;ENSP00000375646:I136M	ENSP00000222212:I136M	I	+	3	3	CACNG7	59110555	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.331000	0.43894	2.469000	0.83416	0.563000	0.77884	ATC	CACNG7	-	pfam_PMP22/EMP/MP20/Claudin		0.557	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	C			54418743	1	no_errors	ENST00000222212	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54418743	C	G	54418743	3	3	23	1	0	0	0	0	1	0	0	0	2567	903	32	1	418	1	CACNG7	19	54418743	Missense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	11625530	54418743	4710240	89	3410										
ZNF606	80095	genome.wustl.edu	37	chr19	58491316	58491316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gagtcacatctccaactttgAgcatgtgtatcaggcttata	8	9	3	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:58491316A>G	ENST00000341164.4	-	7	1352	c.732T>C	c.(730-732)gcT>gcC	p.A244A	ZNF606_ENST00000536132.1_Silent_p.A154A	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCCAACTTTGAGCATGTGTAT	0.368																																																	0													94	93	94					19																	58491316		2203	4300	6503	SO:0001819	synonymous_variant	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.732T>C	19.37:g.58491316A>G			A8KAN2|Q8NE04|Q96JH5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A244	ENST00000341164.4	37	c.732	CCDS12968.1	19																																																																																			ZNF606	-	NULL		0.368	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	HGNC	protein_coding	OTTHUMT00000405961.1	A	NM_025027		58491316	-1	no_errors	ENST00000341164	ensembl	human	known	70_37	silent	SNP	0.170	G	G	58491316	A	G	58491316	2	3	23	1	0	0	0	0	0	0	0	1	18062	291	11	5		5	ZNF606	19	58491316	Silent	SNP	A	TCGA-C5-A1MJ-01A-11D-A14W-08	4072573	58491316	637667	90	3411										
CENPB	1059	genome.wustl.edu	37	chr20	3766324	3766324	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttggccagggcctgggtggtGacaccacccttggagttggc	16	11	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:3766324G>A	ENST00000379751.4	-	1	1013	c.807C>T	c.(805-807)gtC>gtT	p.V269V	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	269					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCTGGGTGGTGACACCACCCT	0.692																																																	0													24	24	24					20																	3766324		2197	4293	6490	SO:0001819	synonymous_variant	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.807C>T	20.37:g.3766324G>A			Q96EI4	Silent	SNP	pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.V269	ENST00000379751.4	37	c.807	CCDS13064.1	20																																																																																			CENPB	-	pfam_DDE_SF_endonuclease_CENPB-like		0.692	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPB	HGNC	protein_coding	OTTHUMT00000077772.2	G	NM_001810		3766324	-1	no_errors	ENST00000379751	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3766324	G	A	3766324	2	1	23	1	0	0	0	0	0	0	0	1	3232	1277	45	1		1	CENPB	20	3766324	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		3766324	59259196	91	3412										
OTOR	56914	genome.wustl.edu	37	chr20	16729605	16729605	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gcagcagatctatgtgtactCaaagctggtaaaagaaaatg	10	6	2	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:16729605C>G	ENST00000246081.2	+	2	253	c.209C>G	c.(208-210)tCa>tGa	p.S70*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	70	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TATGTGTACTCAAAGCTGGTA	0.383																																																	0													70	73	72					20																	16729605		2203	4300	6503	SO:0001587	stop_gained	56914			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.209C>G	20.37:g.16729605C>G	ENSP00000246081:p.Ser70*		D3DW22|Q3MIU6	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.S70*	ENST00000246081.2	37	c.209	CCDS13124.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.242906	0.97408	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-40.9894	18.5344	0.91004	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000246081:S70X	S	+	2	0	OTOR	16677605	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.745000	0.62125	2.826000	0.97356	0.655000	0.94253	TCA	OTOR	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.383	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	HGNC	protein_coding	OTTHUMT00000078108.2	C			16729605	1	no_errors	ENST00000246081	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	16729605	C	G	16729605	4	3	23	1	0	0	0	0	0	1	0	0	11332	838	29	1	215	1	OTOR	20	16729605	Nonsense_Mutation	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	12963281	16729605	46295915	92	3413										
TPX2	22974	genome.wustl.edu	37	chr20	30371595	30371595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ccacctgtgaaaccacccacCgagcctattggctttgattt	7	14	0	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:30371595C>T	ENST00000300403.6	+	12	1812	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	TPX2_ENST00000340513.4_Silent_p.T464T	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	428					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AACCACCCACCGAGCCTATTG	0.423																																																	0													86	92	90					20																	30371595		2203	4300	6503	SO:0001819	synonymous_variant	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1284C>T	20.37:g.30371595C>T			Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.T464	ENST00000300403.6	37	c.1392	CCDS13190.1	20																																																																																			TPX2	-	pfam_TPX2_importin		0.423	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	C			30371595	1	no_errors	ENST00000340513	ensembl	human	known	70_37	silent	SNP	0.997	T	T	30371595	C	T	30371595	2	4	23	1	0	0	0	0	0	0	0	1	16463	639	23	2		2	TPX2	20	30371595	Silent	SNP	C	TCGA-C5-A1MJ-01A-11D-A14W-08	13641990	30371595	32653925	93	3414										
TRPC4AP	26133	genome.wustl.edu	37	chr20	33594341	33594341	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	aactctggagcacatcccttGacttacactcgctgtccaca	6	15	1	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:33594341G>A	ENST00000252015.2	-	15	1813	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S536L|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.S567L|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S177L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	575					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CACATCCCTTGACTTACACTC	0.512																																																	0													134	113	120					20																	33594341		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1724C>T	20.37:g.33594341G>A	ENSP00000252015:p.Ser575Leu		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_DUF3689	p.S575L	ENST00000252015.2	37	c.1724	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658368	0.88154	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.78	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.977;0.977	T	0.59685	-0.7408	10	0.62326	D	0.03	.	15.1933	0.73063	0.0:0.1413:0.8587:0.0	.	536;567;575	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	L	575;567;177;536;560	ENSP00000252015:S575L;ENSP00000400614:S567L;ENSP00000446090:S177L;ENSP00000400497:S536L	ENSP00000252015:S575L	S	-	2	0	TRPC4AP	33058002	1.000000	0.71417	0.830000	0.32933	0.981000	0.71138	9.652000	0.98499	1.213000	0.43380	0.655000	0.94253	TCA	TRPC4AP	-	pfam_DUF3689		0.512	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	G	NM_015638		33594341	-1	no_errors	ENST00000252015	ensembl	human	known	70_37	missense	SNP	0.999	A	A	33594341	G	A	33594341	3	1	23	1	0	0	0	0	1	0	0	0	16612	1294	45	1	689	1	TRPC4AP	20	33594341	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	3222746	33594341	29431179	94	3415										
MYH9	4627	genome.wustl.edu	37	chr22	36682865	36682865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	agaggcgcgggtgtcatccaGctcgcgcatgcagtccttca	13	13	2	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:36682865G>T	ENST00000216181.5	-	35	5190	c.4960C>A	c.(4960-4962)Ctg>Atg	p.L1654M	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1654					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGTCATCCAGCTCGCGCATG	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													119	104	109					22																	36682865		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4960C>A	22.37:g.36682865G>T	ENSP00000216181:p.Leu1654Met	864	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1654M	ENST00000216181.5	37	c.4960	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136945	0.77775	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.80566	-1.39	5.4	4.38	0.52667	Myosin tail (1);	0.206892	0.36778	N	0.002415	D	0.86372	0.5917	M	0.80028	2.48	0.80722	D	1	P	0.50528	0.936	P	0.53266	0.722	D	0.88498	0.3080	10	0.72032	D	0.01	.	14.392	0.66986	0.0725:0.0:0.9275:0.0	.	1654	P35579	MYH9_HUMAN	M	1076;256;1654	ENSP00000216181:L1654M	ENSP00000216181:L1654M	L	-	1	2	MYH9	35012811	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.088000	0.64486	2.509000	0.84616	0.557000	0.71058	CTG	MYH9	-	pfam_Myosin_tail,superfamily_tRNA-bd_arm		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36682865	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36682865	G	T	36682865	3	4	23	1	0	0	0	0	1	0	0	0	10065	962	34	4	950	4	MYH9	22	36682865	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08		36682865	14621701	95	3416										
BRD1	23774	genome.wustl.edu	37	chr22	50217002	50217002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gtagcatgtcagtttccaccGggctggagggatgttcctca	13	10	2	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:50217002G>A	ENST00000216267.8	-	1	1450	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.R322W|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.R322W|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.R322W	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	322					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTTTCCACCGGGCTGGAGGG	0.582																																																	0													135	120	125					22																	50217002		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.964C>T	22.37:g.50217002G>A	ENSP00000216267:p.Arg322Trp		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.R322W	ENST00000216267.8	37	c.964	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503764	0.64298	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.27	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76887	-0.2793	9	.	.	.	.	13.0582	0.58992	0.0:0.0:0.5834:0.4166	.	322;322;322	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	W	322	ENSP00000216267:R322W;ENSP00000384076:R322W;ENSP00000385858:R322W;ENSP00000410042:R322W	.	R	-	1	2	BRD1	48603006	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.615000	0.46368	1.194000	0.43101	0.514000	0.50259	CGG	BRD1	-	superfamily_Znf_FYVE_PHD		0.582	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	G	NM_014577		50217002	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50217002	G	A	50217002	3	1	23	1	0	0	0	0	1	0	0	0	1504	1115	39	2	2260	2	BRD1	22	50217002	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	13534137	50217002	1087564	96	3417										
MOV10L1	54456	genome.wustl.edu	37	chr22	50599416	50599416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ccctgttttggtgctttgctGgaatacagtattacaaacgg	10	8	0	0			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:50599416G>A	ENST00000262794.5	+	26	3569	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L	MOV10L1_ENST00000545383.1_Silent_p.L1162L|MOV10L1_ENST00000395852.1_Silent_p.L289L|MOV10L1_ENST00000395858.3_Silent_p.L1116L|MOV10L1_ENST00000540615.1_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1162					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGCTTTGCTGGAATACAGTA	0.502																																																	0													254	235	241					22																	50599416		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3486G>A	22.37:g.50599416G>A			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.L1162	ENST00000262794.5	37	c.3486	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.502	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50599416	1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50599416	G	A	50599416	2	1	23	1	0	0	0	0	0	0	0	1	9742	1335	47	4		4	MOV10L1	22	50599416	Silent	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	382414	50599416	705150	97	3418										
MAGEB10	139422	genome.wustl.edu	37	chrX	27840298	27840298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gatgaaagttcttgagttttTggccaaggtaaatgatacag	11	4	1	3			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chrX:27840298T>G	ENST00000356790.2	+	3	1120	c.875T>G	c.(874-876)tTg>tGg	p.L292W		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	292	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CTTGAGTTTTTGGCCAAGGTA	0.483																																																	0													50	47	48					X																	27840298		2202	4300	6502	SO:0001583	missense	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.875T>G	X.37:g.27840298T>G	ENSP00000368304:p.Leu292Trp		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L292W	ENST00000356790.2	37	c.875	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413593	0.42817	.	.	ENSG00000177689	ENST00000356790	T	0.02421	4.3	2.62	-0.0224	0.13948	.	0.260360	0.29473	U	0.012058	T	0.03651	0.0104	M	0.72624	2.21	0.09310	N	1	P	0.36712	0.566	B	0.37422	0.249	T	0.31833	-0.9929	10	0.54805	T	0.06	.	2.5747	0.04803	0.0:0.1725:0.2823:0.5452	.	292	Q96LZ2	MAGBA_HUMAN	W	292	ENSP00000368304:L292W	ENSP00000368304:L292W	L	+	2	0	MAGEB10	27750219	0.000000	0.05858	0.000000	0.03702	0.524000	0.34500	0.320000	0.19540	-0.087000	0.12528	0.345000	0.21793	TTG	MAGEB10	-	pfscan_MAGE		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	T	NM_182506		27840298	1	no_errors	ENST00000356790	ensembl	human	known	70_37	missense	SNP	0.000	G	G	27840298	T	G	27840298	3	3	23	1	0	0	0	0	1	0	0	0	9196	1821	63	5	877	5	MAGEB10	23	27840298	Missense_Mutation	SNP	T	TCGA-C5-A1MJ-01A-11D-A14W-08		27840298	127430262	98	3419										
USP11	8237	genome.wustl.edu	37	chrX	47106743	47106743	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	ttgtcatccagccacagaatGagtcgaatccggagctgtac	10	11	1	2			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chrX:47106743G>A	ENST00000218348.3	+	19	2590	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	USP11_ENST00000377107.2_Missense_Mutation_p.E821K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	864	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCCACAGAATGAGTCGAATCC	0.562																																																	0													69	63	65					X																	47106743		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2590G>A	X.37:g.47106743G>A	ENSP00000218348:p.Glu864Lys		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E864K	ENST00000218348.3	37	c.2590	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	g	7.963	0.747334	0.15710	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.29397	1.57;1.57	5.5	4.64	0.57946	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.822342	0.11592	N	0.548676	T	0.15392	0.0371	N	0.12831	0.26	0.20563	N	0.99989	B;B	0.32653	0.379;0.201	B;B	0.31442	0.13;0.075	T	0.15752	-1.0426	10	0.07030	T	0.85	-10.4827	9.2803	0.37725	0.1014:0.0:0.8986:0.0	.	590;864	B3KP28;P51784	.;UBP11_HUMAN	K	821;864	ENSP00000366311:E821K;ENSP00000218348:E864K	ENSP00000218348:E864K	E	+	1	0	USP11	46991687	0.991000	0.36638	0.005000	0.12908	0.188000	0.23474	2.140000	0.42159	1.098000	0.41479	0.431000	0.28591	GAG	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47106743	1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.308	A	A	47106743	G	A	47106743	3	1	23	1	0	0	0	0	1	0	0	0	17073	1291	45	1	2664	1	USP11	23	47106743	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	19266445	47106743	108163817	99	3420										
PLXNA3	55558	genome.wustl.edu	37	chrX	153695476	153695476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	30	6.98504612400068e-08	2.93238434163701	4.88730723606168	2.31504026971343	0.221794061931131	0.45871355319559	20	gggtccgtgccaagtaccgcGgcattgagaccaccaatgtg	13	12	0	1			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chrX:153695476G>A	ENST00000369682.3	+	18	3359	c.3184G>A	c.(3184-3186)Ggc>Agc	p.G1062S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1062	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGTACCGCGGCATTGAGAC	0.657																																																	0													79	71	74					X																	153695476		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3184G>A	X.37:g.153695476G>A	ENSP00000358696:p.Gly1062Ser		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1062S	ENST00000369682.3	37	c.3184	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488462	0.84854	.	.	ENSG00000130827	ENST00000369682	T	0.79247	-1.25	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.56124	1.755	0.80722	D	1	P	0.37176	0.586	B	0.38264	0.269	T	0.76623	-0.2891	10	0.45353	T	0.12	.	17.6415	0.88138	0.0:0.0:1.0:0.0	.	1062	P51805	PLXA3_HUMAN	S	1062	ENSP00000358696:G1062S	ENSP00000358696:G1062S	G	+	1	0	PLXNA3	153348670	0.974000	0.33945	0.936000	0.37596	0.863000	0.49368	1.657000	0.37366	2.438000	0.82558	0.600000	0.82982	GGC	PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153695476	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153695476	G	A	153695476	3	1	23	1	0	0	0	0	1	0	0	0	12145	1116	39	2	3250	2	PLXNA3	23	153695476	Missense_Mutation	SNP	G	TCGA-C5-A1MJ-01A-11D-A14W-08	106588733	153695476	1575084	100	3421										
SCNN1D	6339	genome.wustl.edu	37	chr1	1223059	1223059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccttggcctcccaggagtcgGcctggtcctcagggttgagc	14	14	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:1223059G>A	ENST00000338555.2	+	8	2058	c.914G>A	c.(913-915)gGc>gAc	p.G305D	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G469D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G371D|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G305D			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	305					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGGAGTCGGCCTGGTCCTC	0.701																																																	0													29	28	29					1																	1223059		2187	4292	6479	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.914G>A	1.37:g.1223059G>A	ENSP00000339504:p.Gly305Asp		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.G469D	ENST00000338555.2	37	c.1406		1	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783484	0.16189	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	4.2	1.08	0.20341	.	0.435724	0.20452	N	0.092078	T	0.46014	0.1371	L	0.47716	1.5	0.09310	N	0.999998	B;B;P	0.48764	0.126;0.288;0.915	B;B;B	0.36608	0.096;0.229;0.217	T	0.38779	-0.9645	10	0.48119	T	0.1	.	6.8686	0.24108	0.1665:0.4072:0.4263:0.0	.	127;305;469	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	D	336;469;305;371;305	ENSP00000368411:G469D;ENSP00000339504:G305D;ENSP00000321594:G371D;ENSP00000383717:G305D	ENSP00000321594:G371D	G	+	2	0	SCNN1D	1212922	0.104000	0.21937	0.046000	0.18839	0.075000	0.17131	0.895000	0.28363	-0.081000	0.12662	0.313000	0.20887	GGC	SCNN1D	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.701	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	G	NM_002978		1223059	1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.310	A	A	1223059	G	A	1223059	3	1	24	1	0	0	0	0	1	0	0	0	13959	1203	42	4	1142	4	SCNN1D	1	1223059	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		1223059	248027562	1	3422										
ATAD3B	83858	genome.wustl.edu	37	chr1	1421179	1421179	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caggtcagccggcggctcctCagtcgaccccaggacgtgct	13	16	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:1421179C>T	ENST00000308647.7	+	9	1040	c.924C>T	c.(922-924)ctC>ctT	p.L308L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	308						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCGGCTCCTCAGTCGACCCC	0.667																																																	0													51	50	50					1																	1421179		2203	4296	6499	SO:0001819	synonymous_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.924C>T	1.37:g.1421179C>T			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L308	ENST00000308647.7	37	c.924	CCDS30.1	1																																																																																			ATAD3B	-	NULL		0.667	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	C	NM_031921		1421179	1	no_errors	ENST00000308647	ensembl	human	known	70_37	silent	SNP	0.856	T	T	1421179	C	T	1421179	2	4	24	1	0	0	0	0	0	0	0	1	1075	813	29	1		1	ATAD3B	1	1421179	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	198120	1421179	247829442	2	3423										
PRDM16	63976	genome.wustl.edu	37	chr1	3301735	3301735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gatctccgaagacctgggcaGtgagaagttctgcgtggatg	15	8	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:3301735G>A	ENST00000270722.5	+	4	507	c.458G>A	c.(457-459)aGt>aAt	p.S153N	PRDM16_ENST00000378398.3_Missense_Mutation_p.S153N|PRDM16_ENST00000514189.1_Missense_Mutation_p.S154N|PRDM16_ENST00000441472.2_Missense_Mutation_p.S153N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.S153N|PRDM16_ENST00000442529.2_Missense_Mutation_p.S153N|PRDM16_ENST00000511072.1_Missense_Mutation_p.S154N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	153	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACCTGGGCAGTGAGAAGTTC	0.602			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													84	95	91					1																	3301735		2155	4279	6434	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.458G>A	1.37:g.3301735G>A	ENSP00000270722:p.Ser153Asn		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S153N	ENST00000270722.5	37	c.458	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.198458	0.00299	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.52	-1.6	0.08426	SET domain (2);	0.413243	0.18669	U	0.134512	T	0.62221	0.2410	N	0.04686	-0.185	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.51694	-0.8673	10	0.07325	T	0.83	.	9.9252	0.41487	0.1442:0.6912:0.1646:0.0	.	153;153;153;153	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	N	154;153;153;153;153;154;153	ENSP00000426975:S154N;ENSP00000367651:S153N;ENSP00000407968:S153N;ENSP00000405253:S153N;ENSP00000367643:S153N;ENSP00000421400:S154N;ENSP00000270722:S153N	ENSP00000270722:S153N	S	+	2	0	PRDM16	3291595	0.000000	0.05858	0.005000	0.12908	0.084000	0.17831	0.450000	0.21762	0.055000	0.16094	0.561000	0.74099	AGT	PRDM16	-	smart_SET_dom,pfscan_SET_dom		0.602	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3301735	1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	0.000	A	A	3301735	G	A	3301735	3	1	24	1	0	0	0	0	1	0	0	0	12484	1029	36	4	472	4	PRDM16	1	3301735	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1880556	3301735	245948886	3	3424										
LRRC47	57470	genome.wustl.edu	37	chr1	3703465	3703465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctggctgcaggtccatgcctCgcaccacggcccccacaatg	10	18	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:3703465C>T	ENST00000378251.1	-	2	1052	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	342							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTCCATGCCTCGCACCACGGC	0.637																																																	0													25	26	26					1																	3703465		2199	4295	6494	SO:0001583	missense	57470			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1025G>A	1.37:g.3703465C>T	ENSP00000367498:p.Arg342Gln		Q9ULN5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.R342Q	ENST00000378251.1	37	c.1025	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593497	0.46214	.	.	ENSG00000130764	ENST00000378251	T	0.55588	0.51	5.22	2.96	0.34315	B3/B4 tRNA-binding domain (1);	0.197467	0.52532	D	0.000078	T	0.61899	0.2384	H	0.94771	3.58	0.09310	N	1	D	0.53151	0.958	P	0.44447	0.45	T	0.63756	-0.6565	10	0.87932	D	0	-11.5632	6.2732	0.20966	0.1599:0.6444:0.0:0.1957	.	342	Q8N1G4	LRC47_HUMAN	Q	342	ENSP00000367498:R342Q	ENSP00000367498:R342Q	R	-	2	0	LRRC47	3693325	0.813000	0.29090	0.039000	0.18376	0.441000	0.31987	1.418000	0.34782	1.196000	0.43129	0.650000	0.86243	CGA	LRRC47	-	smart_B3/B4_tRNA-bd		0.637	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1	C	NM_020710		3703465	-1	no_errors	ENST00000378251	ensembl	human	known	70_37	missense	SNP	0.025	T	T	3703465	C	T	3703465	3	4	24	1	0	0	0	0	1	0	0	0	9027	884	31	1	750	1	LRRC47	1	3703465	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	401730	3703465	245547156	4	3425										
PIK3CD	5293	genome.wustl.edu	37	chr1	9784049	9784049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aggccctggatcgagccattGaggagttcaccctctcctgt	11	13	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:9784049G>A	ENST00000377346.4	+	21	2812	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	PIK3CD_ENST00000536656.1_Missense_Mutation_p.E897K|PIK3CD_ENST00000361110.2_Missense_Mutation_p.E897K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	873	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCGAGCCATTGAGGAGTTCAC	0.542																																																	0													149	137	141					1																	9784049		2203	4300	6503	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2617G>A	1.37:g.9784049G>A	ENSP00000366563:p.Glu873Lys		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E897K	ENST00000377346.4	37	c.2689	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.833724	0.97003	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.74526	-0.85;-0.85;-0.85	5.01	5.01	0.66863	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	L	0.48877	1.53	0.80722	D	1	D;D;D	0.71674	0.967;0.998;0.997	P;D;D	0.72075	0.838;0.954;0.976	D	0.84666	0.0709	10	0.72032	D	0.01	-36.1738	18.2987	0.90155	0.0:0.0:1.0:0.0	.	872;897;873	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	897;873;897;897	ENSP00000446444:E897K;ENSP00000366563:E873K;ENSP00000354410:E897K	ENSP00000353766:E897K	E	+	1	0	PIK3CD	9706636	1.000000	0.71417	0.977000	0.42913	0.947000	0.59692	9.864000	0.99589	2.327000	0.79052	0.561000	0.74099	GAG	PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.542	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	G	NM_005026		9784049	1	no_errors	ENST00000536656	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9784049	G	A	9784049	3	1	24	1	0	0	0	0	1	0	0	0	11939	1291	45	1	2691	1	PIK3CD	1	9784049	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6080584	9784049	239466572	5	3426										
DNAJC16	23341	genome.wustl.edu	37	chr1	15863294	15863294	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgtggaaagaagtcattcaaGaactggaagaattgggtaag	13	3	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:15863294G>T	ENST00000375847.3	+	4	723	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.E187*|DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.E187*	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	187	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGTCATTCAAGAACTGGAAGA	0.393																																																	0													63	63	63					1																	15863294		2203	4300	6503	SO:0001587	stop_gained	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.559G>T	1.37:g.15863294G>T	ENSP00000365007:p.Glu187*		Q68D57|Q86X32|Q8N5P4	Nonsense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E187*	ENST00000375847.3	37	c.559	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	37	5.986283	0.97173	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.1489	18.0061	0.89210	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000364998:E187X	E	+	1	0	DNAJC16	15735881	1.000000	0.71417	0.998000	0.56505	0.623000	0.37688	8.540000	0.90641	2.660000	0.90430	0.655000	0.94253	GAA	DNAJC16	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.393	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	G	NM_015291		15863294	1	no_errors	ENST00000375847	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	15863294	G	T	15863294	4	4	24	1	0	0	0	0	0	1	0	0	4645	943	33	3	569	3	DNAJC16	1	15863294	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6079245	15863294	233387327	6	3427										
UBR4	23352	genome.wustl.edu	37	chr1	19413195	19413195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gacggcagccagatggcagtCgtagtgcacaatgttgaagt	14	8	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:19413195C>G	ENST00000375254.3	-	100	14692	c.14665G>C	c.(14665-14667)Gac>Cac	p.D4889H	UBR4_ENST00000375224.1_Missense_Mutation_p.D596H|UBR4_ENST00000543981.1_Missense_Mutation_p.D553H|UBR4_ENST00000375217.2_Missense_Mutation_p.D4882H|UBR4_ENST00000375267.2_Missense_Mutation_p.D4889H|UBR4_ENST00000375226.2_Missense_Mutation_p.D4865H|UBR4_ENST00000429347.2_Missense_Mutation_p.D412H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4889					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGATGGCAGTCGTAGTGCACA	0.597																																																	0													106	99	102					1																	19413195		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14665G>C	1.37:g.19413195C>G	ENSP00000364403:p.Asp4889His		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D4889H	ENST00000375254.3	37	c.14665	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100587	0.76983	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.55231	-0.8173	10	0.59425	D	0.04	.	18.5058	0.90897	0.0:1.0:0.0:0.0	.	553;412;4889;4865	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	H	4889;4889;4882;4865;596;412;553	ENSP00000364403:D4889H;ENSP00000364416:D4889H;ENSP00000364365:D4882H;ENSP00000364374:D4865H;ENSP00000364372:D596H;ENSP00000394173:D412H;ENSP00000444070:D553H	ENSP00000364365:D4882H	D	-	1	0	UBR4	19285782	1.000000	0.71417	0.996000	0.52242	0.501000	0.33797	7.484000	0.81180	2.700000	0.92200	0.563000	0.77884	GAC	UBR4	-	NULL		0.597	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19413195	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19413195	C	G	19413195	3	3	24	1	0	0	0	0	1	0	0	0	16935	884	31	1	914	1	UBR4	1	19413195	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3549901	19413195	229837426	7	3428										
ARID1A	8289	genome.wustl.edu	37	chr1	27059194	27059194	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctcaagattcatttgggtctCaggcatcctcagccccctca	7	15	5	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:27059194C>T	ENST00000324856.7	+	4	2202	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q228*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q611*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTTGGGTCTCAGGCATCCTC	0.478			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													135	119	125					1																	27059194		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1831C>T	1.37:g.27059194C>T	ENSP00000320485:p.Gln611*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q611*	ENST00000324856.7	37	c.1831	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.910370	0.97928	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-6.0683	19.8172	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	611;611;228	.	ENSP00000320485:Q611X	Q	+	1	0	ARID1A	26931781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	CAG	ARID1A	-	NULL		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27059194	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27059194	C	T	27059194	4	4	24	1	0	0	0	0	0	1	0	0	913	827	29	1	1845	1	ARID1A	1	27059194	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7645999	27059194	222191427	8	3429										
ARID1A	8289	genome.wustl.edu	37	chr1	27100988	27100988	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aagctgcccagccttcccctCagcaagatgtatacaaccag	7	15	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:27100988C>T	ENST00000324856.7	+	18	4641	c.4270C>T	c.(4270-4272)Cag>Tag	p.Q1424*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1041*|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1424					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1424*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTTCCCCTCAGCAAGATGT	0.622			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	breast(1)											66	64	65					1																	27100988		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4270C>T	1.37:g.27100988C>T	ENSP00000320485:p.Gln1424*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1424*	ENST00000324856.7	37	c.4270	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.038871|10.038871	0.99323|0.99323	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.051697|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71467	.|0.3343	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68610	.|-0.5363	.|4	0.49607|.	T|.	0.09|.	-6.4226|-6.4226	15.208|15.208	0.73195|0.73195	0.0:0.86:0.14:0.0|0.0:0.86:0.14:0.0	.|.	.|.	.|.	.|.	X|L	1424;1041|320	.|.	ENSP00000320485:Q1424X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26973575|26973575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.908000|3.908000	0.56355|0.56355	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ARID1A	-	NULL		0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27100988	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27100988	C	T	27100988	4	4	24	1	0	0	0	0	0	1	0	0	913	827	29	1	4340	1	ARID1A	1	27100988	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	41794	27100988	222149633	9	3430										
SFN	2810	genome.wustl.edu	37	chr1	27190424	27190424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acgccggggaagaggggggcGaggctccccaggagccccag	19	13	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:27190424G>A	ENST00000339276.4	+	1	792	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGAGGGGGGCGAGGCTCCCCA	0.677																																																	0													32	35	34					1																	27190424		2203	4300	6503	SO:0001583	missense	2810			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.721G>A	1.37:g.27190424G>A	ENSP00000340989:p.Glu241Lys		B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E241K	ENST00000339276.4	37	c.721	CCDS288.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164432	0.78339	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.45668	0.89	5.6	5.6	0.85130	14-3-3 domain (1);	0.272836	0.33854	N	0.004499	T	0.46908	0.1417	M	0.68952	2.095	0.43029	D	0.994595	D	0.56968	0.978	B	0.41894	0.369	T	0.55289	-0.8164	10	0.59425	D	0.04	-24.7544	19.2333	0.93849	0.0:0.0:1.0:0.0	.	241	P31947	1433S_HUMAN	K	241;209	ENSP00000340989:E241K	ENSP00000340989:E241K	E	+	1	0	SFN	27063011	1.000000	0.71417	0.966000	0.40874	0.881000	0.50899	6.145000	0.71769	2.648000	0.89879	0.561000	0.74099	GAG	SFN	-	smart_14-3-3_domain,pirsf_14-3-3		0.677	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFN	HGNC	protein_coding	OTTHUMT00000011709.1	G	NM_006142		27190424	1	no_errors	ENST00000339276	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27190424	G	A	27190424	3	1	24	1	0	0	0	0	1	0	0	0	14189	1059	37	1	723	1	SFN	1	27190424	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	89436	27190424	222060197	10	3431										
SF3A3	10946	genome.wustl.edu	37	chr1	38444715	38444715	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tttcaatctgtccaaacccaGagaagccaactcctatacaa	4	13	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:38444715G>A	ENST00000373019.4	-	10	1727	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	SF3A3_ENST00000448721.2_Silent_p.L205L|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	258					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACCCAGAGAAGCCAAC	0.398																																																	0													62	65	64					1																	38444715		2203	4300	6503	SO:0001819	synonymous_variant	10946			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.772C>T	1.37:g.38444715G>A			D3DPT5|Q15460|Q5VT87	Silent	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.L258	ENST00000373019.4	37	c.772	CCDS428.1	1																																																																																			SF3A3	-	NULL		0.398	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	G	NM_006802		38444715	-1	no_errors	ENST00000373019	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38444715	G	A	38444715	2	1	24	1	0	0	0	0	0	0	0	1	14178	933	33	1		1	SF3A3	1	38444715	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	11254291	38444715	210805906	11	3432										
KIF2C	11004	genome.wustl.edu	37	chr1	45213065	45213065	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctccttgcagattgattttGatgatgtggctgcaataaac	10	7	0	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:45213065G>C	ENST00000372224.4	+	3	288	c.175G>C	c.(175-177)Gat>Cat	p.D59H	KIF2C_ENST00000372218.4_Missense_Mutation_p.D59H|KIF2C_ENST00000372217.1_Missense_Mutation_p.D5H|KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	59	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GATTGATTTTGATGATGTGGC	0.373																																																	0													117	116	116					1																	45213065		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.175G>C	1.37:g.45213065G>C	ENSP00000361298:p.Asp59His		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D59H	ENST00000372224.4	37	c.175	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.132087	0.77662	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372217	T;T;T;T;T	0.76316	1.08;-0.95;-0.78;0.82;-1.01	6.07	5.15	0.70609	.	0.251014	0.39083	N	0.001476	T	0.80319	0.4601	L	0.46157	1.445	0.80722	D	1	B;P;P	0.49559	0.444;0.925;0.577	B;P;P	0.55999	0.401;0.789;0.687	T	0.81055	-0.1106	10	0.87932	D	0	.	11.3649	0.49666	0.1354:0.0:0.8646:0.0	.	59;5;59	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	H	59;59;59;50;5	ENSP00000410346:D59H;ENSP00000361298:D59H;ENSP00000361292:D59H;ENSP00000395050:D50H;ENSP00000361291:D5H	ENSP00000361291:D5H	D	+	1	0	KIF2C	44985652	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.449000	0.44935	2.884000	0.98904	0.655000	0.94253	GAT	KIF2C	-	NULL		0.373	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	G	NM_006845		45213065	1	no_errors	ENST00000372224	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45213065	G	C	45213065	3	2	24	1	0	0	0	0	1	0	0	0	8319	1290	45	1	185	1	KIF2C	1	45213065	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6768350	45213065	204037556	12	3433										
C1orf173	127254	genome.wustl.edu	37	chr1	75037649	75037649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctccagtcctgcgcaggagtCgtgatctttggctgctagct	12	12	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:75037649C>T	ENST00000326665.5	-	14	3963	c.3745G>A	c.(3745-3747)Gac>Aac	p.D1249N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1249	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCGCAGGAGTCGTGATCTTTG	0.602																																																	0													91	82	85					1																	75037649		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3745G>A	1.37:g.75037649C>T	ENSP00000322609:p.Asp1249Asn		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.D1249N	ENST00000326665.5	37	c.3745	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887728	0.33348	.	.	ENSG00000178965	ENST00000326665	T	0.29142	1.58	4.78	-4.71	0.03279	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.40496	-0.9560	9	0.20046	T	0.44	1.6072	2.2885	0.04133	0.1173:0.3061:0.3459:0.2307	.	1249	Q5RHP9	CA173_HUMAN	N	1249	ENSP00000322609:D1249N	ENSP00000322609:D1249N	D	-	1	0	C1orf173	74810237	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.151000	0.10175	-0.511000	0.06514	-0.254000	0.11334	GAC	C1orf173	-	NULL		0.602	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75037649	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75037649	C	T	75037649	3	4	24	1	0	0	0	0	1	0	0	0	2019	884	31	1	851	1	C1orf173	1	75037649	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	29824584	75037649	174212972	13	3434										
HFM1	164045	genome.wustl.edu	37	chr1	91742578	91742578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgtttacttttacaaagatGattgcattctcggttcccag	7	8	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:91742578G>A	ENST00000370425.3	-	31	3531	c.3433C>T	c.(3433-3435)Cat>Tat	p.H1145Y	HFM1_ENST00000370424.3_Missense_Mutation_p.H824Y|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.H377Y	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1145					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAAAGATGATTGCATTCT	0.313																																																	0													140	139	139					1																	91742578		2203	4299	6502	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3433C>T	1.37:g.91742578G>A	ENSP00000359454:p.His1145Tyr		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1145Y	ENST00000370425.3	37	c.3433	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880124|3.880124	0.72294|0.72294	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424|ENST00000370421	D;D;D|.	0.86230|.	-1.5;-2.09;-1.88|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.69691|0.69691	0.3139|0.3139	M|M	0.68952|0.68952	2.095|2.095	0.42985|0.42985	D|D	0.99447|0.99447	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.994;0.997|.	T|T	0.72786|0.72786	-0.4188|-0.4188	10|6	0.87932|0.87932	D|D	0|0	.|.	16.752|16.752	0.85488|0.85488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	824;356;1145|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	Y|L	1145;377;824|828	ENSP00000359454:H1145Y;ENSP00000294696:H377Y;ENSP00000359453:H824Y|.	ENSP00000294696:H377Y|ENSP00000359450:S828L	H|S	-|-	1|2	0|0	HFM1|HFM1	91515166|91515166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	4.693000|4.693000	0.61753|0.61753	2.698000|2.698000	0.92095|0.92095	0.585000|0.585000	0.79938|0.79938	CAT|TCA	HFM1	-	NULL		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91742578	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91742578	G	A	91742578	3	1	24	1	0	0	0	0	1	0	0	0	7103	1290	45	1	910	1	HFM1	1	91742578	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	16704929	91742578	157508043	14	3435										
HFM1	164045	genome.wustl.edu	37	chr1	91778974	91778974	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaatctgtgtttcagattttCtttgcatagtgatttgattt	7	4	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:91778974C>G	ENST00000370425.3	-	30	3421	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	HFM1_ENST00000370424.3_Missense_Mutation_p.R787T|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R340T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1108					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAGATTTTCTTTGCATAGT	0.313																																																	0													118	117	118					1																	91778974		2202	4294	6496	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3323G>C	1.37:g.91778974C>G	ENSP00000359454:p.Arg1108Thr		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1108T	ENST00000370425.3	37	c.3323	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.521|6.521	0.464417|0.464417	0.12402|0.12402	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.63580	.|0.33;0.66;-0.05	5.57|5.57	3.6|3.6	0.41247|0.41247	.|.	.|0.202358	.|0.32608	.|N	.|0.005875	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.38175|0.38175	1.15|1.15	0.25590|0.25590	N|N	0.98671|0.98671	.|B;B;B	.|0.14438	.|0.008;0.007;0.01	.|B;B;B	.|0.11329	.|0.006;0.004;0.002	T|T	0.19745|0.19745	-1.0296|-1.0296	5|10	.|0.14252	.|T	.|0.57	.|.	6.0466|6.0466	0.19764|0.19764	0.0:0.6026:0.0:0.3974|0.0:0.6026:0.0:0.3974	.|.	.|787;319;1108	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Q|T	320|1108;340;787;792	.|ENSP00000359454:R1108T;ENSP00000294696:R340T;ENSP00000359453:R787T	.|ENSP00000294696:R340T	E|R	-|-	1|2	0|0	HFM1|HFM1	91551562|91551562	0.481000|0.481000	0.25941|0.25941	0.800000|0.800000	0.32199|0.32199	0.026000|0.026000	0.11368|0.11368	0.989000|0.989000	0.29629|0.29629	0.583000|0.583000	0.29574|0.29574	0.591000|0.591000	0.81541|0.81541	GAA|AGA	HFM1	-	NULL		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91778974	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.672	G	G	91778974	C	G	91778974	3	3	24	1	0	0	0	0	1	0	0	0	7103	913	32	1	1024	1	HFM1	1	91778974	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	36396	91778974	157471647	15	3436										
F3	2152	genome.wustl.edu	37	chr1	94996028	94996028	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgcttcctttatgaaacattCagtggggagttctccttcca	8	10	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:94996028C>T	ENST00000334047.7	-	6	1039	c.876G>A	c.(874-876)ctG>ctA	p.L292L	F3_ENST00000370207.4_Silent_p.*239*|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	292					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ATGAAACATTCAGTGGGGAGT	0.438																																					Melanoma(40;358 1339 15970 39161)												0													124	114	117					1																	94996028		2203	4300	6503	SO:0001819	synonymous_variant	2152			BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"CD molecules"	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.876G>A	1.37:g.94996028C>T			D3DT47|Q6FHG2|Q86WH4	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	p.L292	ENST00000334047.7	37	c.876	CCDS750.1	1																																																																																			F3	-	pirsf_Tissue_fac/coagulation_fac-3		0.438	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F3	HGNC	protein_coding	OTTHUMT00000029593.1	C	NM_001993		94996028	-1	no_errors	ENST00000334047	ensembl	human	known	70_37	silent	SNP	0.017	T	T	94996028	C	T	94996028	2	4	24	1	0	0	0	0	0	0	0	1	5359	837	29	1		1	F3	1	94996028	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3217054	94996028	154254593	16	3437										
HIPK1	204851	genome.wustl.edu	37	chr1	114498227	114498227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agactggaataaaatcaaaaGaagctcggaagtacattttt	8	5	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:114498227G>C	ENST00000369558.1	+	5	1595	c.1363G>C	c.(1363-1365)Gaa>Caa	p.E455Q	HIPK1_ENST00000369554.2_Missense_Mutation_p.E455Q|HIPK1_ENST00000369555.2_Missense_Mutation_p.E455Q|HIPK1_ENST00000340480.4_Missense_Mutation_p.E81Q|HIPK1_ENST00000369559.4_Missense_Mutation_p.E455Q|HIPK1_ENST00000426820.2_Missense_Mutation_p.E455Q|HIPK1_ENST00000369553.1_Missense_Mutation_p.E61Q|HIPK1_ENST00000369561.4_Missense_Mutation_p.E455Q|HIPK1_ENST00000406344.1_Missense_Mutation_p.E61Q			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATCAAAAGAAGCTCGGAA	0.323																																																	0													107	122	117					1																	114498227		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1363G>C	1.37:g.114498227G>C	ENSP00000358571:p.Glu455Gln		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	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.E455Q	ENST00000369558.1	37	c.1363	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026798	0.93518	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.56444	0.47;0.48;0.52;0.46;0.46;0.52;0.53;3.55;2.36;2.36	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.58004	0.2092	L	0.35288	1.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.989	D;D;D	0.97110	1.0;0.992;0.979	T	0.62343	-0.6874	10	0.72032	D	0.01	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	61;455;455	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	Q	526;455;455;455;455;455;455;81;61;61	ENSP00000407442:E526Q;ENSP00000358572:E455Q;ENSP00000409673:E455Q;ENSP00000358567:E455Q;ENSP00000358568:E455Q;ENSP00000358571:E455Q;ENSP00000358574:E455Q;ENSP00000340956:E81Q;ENSP00000358566:E61Q;ENSP00000384960:E61Q	ENSP00000340956:E81Q	E	+	1	0	HIPK1	114299750	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.634000	0.89283	0.655000	0.94253	GAA	HIPK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.323	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	G	NM_198268		114498227	1	no_errors	ENST00000369558	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114498227	G	C	114498227	3	2	24	1	0	0	0	0	1	0	0	0	7136	943	33	1	1395	1	HIPK1	1	114498227	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	19502199	114498227	134752394	17	3438										
HIPK1	204851	genome.wustl.edu	37	chr1	114505025	114505025	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	taccccaggcaccagctgctCagccactacagattcagtca	7	16	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:114505025C>T	ENST00000369558.1	+	9	2300	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	HIPK1_ENST00000369554.2_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000369555.2_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000340480.4_Nonsense_Mutation_p.Q316*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.Q690*|HIPK1_ENST00000369553.1_Nonsense_Mutation_p.Q296*|HIPK1_ENST00000369561.4_Nonsense_Mutation_p.Q656*|HIPK1_ENST00000406344.1_Nonsense_Mutation_p.Q296*			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	690					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAGCTGCTCAGCCACTACA	0.443																																																	0													87	79	81					1																	114505025		2203	4300	6503	SO:0001587	stop_gained	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2068C>T	1.37:g.114505025C>T	ENSP00000358571:p.Gln690*		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Nonsense_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.Q690*	ENST00000369558.1	37	c.2068	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.434459	0.98810	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.	.	.	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	761;690;690;690;690;690;656;316;296;296	.	ENSP00000340956:Q316X	Q	+	1	0	HIPK1	114306548	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CAG	HIPK1	-	NULL		0.443	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	C	NM_198268		114505025	1	no_errors	ENST00000369558	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	114505025	C	T	114505025	4	4	24	1	0	0	0	0	0	1	0	0	7136	827	29	1	2116	1	HIPK1	1	114505025	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	6798	114505025	134745596	18	3439										
AQP10	89872	genome.wustl.edu	37	chr1	154296858	154296858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tggtggctctgcaccaccctGagggcccagagccagctcag	13	15	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:154296858G>A	ENST00000324978.3	+	6	848	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	270					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCACCACCCTGAGGGCCCAGA	0.592											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	67	67					1																	154296858		2203	4300	6503	SO:0001583	missense	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.808G>A	1.37:g.154296858G>A	ENSP00000318355:p.Glu270Lys	1762	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.E270K	ENST00000324978.3	37	c.808	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327621	0.60743	.	.	ENSG00000143595	ENST00000324978	D	0.84146	-1.81	4.46	4.46	0.54185	.	0.502393	0.20755	N	0.086261	T	0.57975	0.2090	N	0.08118	0	0.80722	D	1	P	0.44195	0.828	B	0.41764	0.366	T	0.67601	-0.5629	10	0.06625	T	0.88	.	16.2732	0.82630	0.0:0.0:1.0:0.0	.	270	Q96PS8	AQP10_HUMAN	K	270	ENSP00000318355:E270K	ENSP00000318355:E270K	E	+	1	0	AQP10	152563482	0.970000	0.33590	0.936000	0.37596	0.355000	0.29361	3.641000	0.54360	2.510000	0.84645	0.555000	0.69702	GAG	AQP10	-	NULL		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	G	NM_080429		154296858	1	no_errors	ENST00000324978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154296858	G	A	154296858	3	1	24	1	0	0	0	0	1	0	0	0	822	1291	45	1	830	1	AQP10	1	154296858	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	39791833	154296858	94953763	19	3440										
ATP8B2	57198	genome.wustl.edu	37	chr1	154310131	154310131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	taacgagaagtcctcttcttCctgtactgtaaacatttgat	6	9	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:154310131C>T	ENST00000368487.3	+	12	1332	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000341822.2_Intron|ATP8B2_ENST00000368489.3_Intron|ATP8B2_ENST00000426445.1_Intron	NM_001005855.1	NP_001005855.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	425					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCTTCTTCCTGTACTGTA	0.413																																																	0													75	79	77					1																	154310131		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368487.3:c.1145C>T	1.37:g.154310131C>T	ENSP00000357472:p.Ser382Phe		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom	p.S382F	ENST00000368487.3	37	c.1145	CCDS41405.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479716	0.44044	.	.	ENSG00000143515	ENST00000368487	T	0.04551	3.6	4.78	-5.23	0.02798	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	P	0.38110	0.618	B	0.33196	0.159	T	0.45804	-0.9236	8	0.87932	D	0	.	3.4021	0.07327	0.1257:0.1871:0.1241:0.563	.	382	P98198-4	.	F	382	ENSP00000357472:S382F	ENSP00000357472:S382F	S	+	2	0	ATP8B2	152576755	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.669000	0.05262	-0.628000	0.05582	0.655000	0.94253	TCC	ATP8B2	-	NULL		0.413	ATP8B2-003	KNOWN	basic|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087903.2	C	NM_020452		154310131	1	no_errors	ENST00000368487	ensembl	human	known	70_37	missense	SNP	0.000	T	T	154310131	C	T	154310131	3	4	24	1	0	0	0	0	1	0	0	0	1196	855	30	1	1290	1	ATP8B2	1	154310131	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	13273	154310131	94940490	20	3441										
ASH1L	55870	genome.wustl.edu	37	chr1	155319338	155319338	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caaatgtgaacctactttttCtttgggggaaggttcaaaag	10	6	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:155319338C>T	ENST00000368346.3	-	18	8070	c.7431G>A	c.(7429-7431)aaG>aaA	p.K2477K	ASH1L_ENST00000392403.3_Silent_p.K2472K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2477	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTACTTTTTCTTTGGGGGAA	0.438																																																	0													61	59	60					1																	155319338		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7431G>A	1.37:g.155319338C>T			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K2477	ENST00000368346.3	37	c.7431		1																																																																																			ASH1L	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.438	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155319338	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155319338	C	T	155319338	2	4	24	1	0	0	0	0	0	0	0	1	1042	912	32	1		1	ASH1L	1	155319338	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1009207	155319338	93931283	21	3442										
NCSTN	23385	genome.wustl.edu	37	chr1	160319399	160319399	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctggtcttgcagtgtccttGaccaagcccagtcctgcctc	10	15	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:160319399G>C	ENST00000294785.5	+	4	500	c.375G>C	c.(373-375)ttG>ttC	p.L125F	NCSTN_ENST00000535857.1_Missense_Mutation_p.L125F|NCSTN_ENST00000392212.4_Missense_Mutation_p.L105F|NCSTN_ENST00000368063.1_Missense_Mutation_p.L105F|NCSTN_ENST00000368065.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	125					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTGTCCTTGACCAAGCCCA	0.502																																																	0													105	94	98					1																	160319399		2203	4300	6503	SO:0001583	missense	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.375G>C	1.37:g.160319399G>C	ENSP00000294785:p.Leu125Phe		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.L125F	ENST00000294785.5	37	c.375	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655009	0.14580	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T	0.77358	-1.07;-1.09;-0.12;-0.1;-0.13;-1.09	4.53	-2.39	0.06602	.	0.678945	0.13694	N	0.369323	T	0.37461	0.1004	L	0.29908	0.895	0.33561	D	0.597314	P;B;B	0.36837	0.571;0.001;0.0	B;B;B	0.41332	0.354;0.002;0.001	T	0.19128	-1.0315	10	0.09084	T	0.74	8.0E-4	0.7527	0.00993	0.414:0.1336:0.2351:0.2173	.	125;105;125	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	F	125;105;125;125;158;105	ENSP00000294785:L125F;ENSP00000357042:L105F;ENSP00000390409:L125F;ENSP00000442605:L125F;ENSP00000389370:L158F;ENSP00000376047:L105F	ENSP00000294785:L125F	L	+	3	2	NCSTN	158586023	0.074000	0.21230	0.928000	0.36995	0.734000	0.41952	-0.140000	0.10342	-0.085000	0.12573	-0.126000	0.14955	TTG	NCSTN	-	NULL		0.502	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	G	NM_015331		160319399	1	no_errors	ENST00000294785	ensembl	human	known	70_37	missense	SNP	0.340	C	C	160319399	G	C	160319399	3	2	24	1	0	0	0	0	1	0	0	0	10265	1281	45	1	389	1	NCSTN	1	160319399	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5000061	160319399	88931222	22	3443										
CD48	962	genome.wustl.edu	37	chr1	160651194	160651194	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggtatcacacatgacagtttCagataacagttgtcatccat	7	9	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:160651194C>T	ENST00000368046.3	-	3	537	c.450G>A	c.(448-450)ctG>ctA	p.L150L	RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	150	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGACAGTTTCAGATAACAGT	0.453																																																	0													184	167	173					1																	160651194		2203	4300	6503	SO:0001819	synonymous_variant	962			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.450G>A	1.37:g.160651194C>T			Q5U055|Q8MGR0	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L150	ENST00000368046.3	37	c.450	CCDS1208.1	1																																																																																			CD48	-	pfscan_Ig-like		0.453	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	HGNC	protein_coding	OTTHUMT00000060471.1	C	NM_001778		160651194	-1	no_errors	ENST00000368046	ensembl	human	known	70_37	silent	SNP	0.026	T	T	160651194	C	T	160651194	2	4	24	1	0	0	0	0	0	0	0	1	3025	813	29	1		1	CD48	1	160651194	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	331795	160651194	88599427	23	3444										
ADAMTS4	9507	genome.wustl.edu	37	chr1	161166037	161166037	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagctccgagccgggtcacaGacggtgcccacatcagccat	11	16	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:161166037G>C	ENST00000367996.5	-	3	1442	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	338	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.V338V(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCGGGTCACAGACGGTGCCCA	0.567																																																	2	Substitution - coding silent(2)	urinary_tract(2)											93	87	89					1																	161166037		2203	4300	6503	SO:0001819	synonymous_variant	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1014C>G	1.37:g.161166037G>C			Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V338	ENST00000367996.5	37	c.1014	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.567	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	G	NM_005099		161166037	-1	no_errors	ENST00000367996	ensembl	human	known	70_37	silent	SNP	1.000	C	C	161166037	G	C	161166037	2	2	24	1	0	0	0	0	0	0	0	1	268	929	33	1		1	ADAMTS4	1	161166037	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	514843	161166037	88084584	24	3445										
C1orf226	400793	genome.wustl.edu	37	chr1	162353076	162353076	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccaggacatgctgatttcatCacagcctgtcctcagcagtc	8	14	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:162353076C>A	ENST00000458626.2	+	2	594	c.422C>A	c.(421-423)tCa>tAa	p.S141*	C1orf226_ENST00000426197.2_Nonsense_Mutation_p.S184*	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	141										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CTGATTTCATCACAGCCTGTC	0.602																																																	0													45	50	48					1																	162353076		1972	4166	6138	SO:0001587	stop_gained	400793			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.422C>A	1.37:g.162353076C>A	ENSP00000437071:p.Ser141*		B4DF31	Nonsense_Mutation	SNP	NULL	p.S184*	ENST00000458626.2	37	c.551	CCDS53422.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.499161	0.96355	.	.	ENSG00000239887	ENST00000420220;ENST00000426197;ENST00000458626	.	.	.	4.58	4.58	0.56647	.	0.605496	0.13632	N	0.373678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3352	16.4883	0.84191	0.0:1.0:0.0:0.0	.	.	.	.	X	141;184;141	.	ENSP00000398035:S141X	S	+	2	0	C1orf226	160619700	0.949000	0.32298	0.010000	0.14722	0.988000	0.76386	6.592000	0.74095	2.535000	0.85469	0.655000	0.94253	TCA	C1orf226	-	NULL		0.602	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	C	NM_001085375		162353076	1	no_errors	ENST00000426197	ensembl	human	known	70_37	nonsense	SNP	0.113	A	A	162353076	C	A	162353076	4	1	24	1	0	0	0	0	0	1	0	0	2037	838	29	3	561	3	C1orf226	1	162353076	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1187039	162353076	86897545	25	3446										
DCAF6	55827	genome.wustl.edu	37	chr1	167973897	167973897	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcttcagccttctacatcctCtacaatgtcagctcaggctc	5	15	6	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:167973897C>T	ENST00000312263.6	+	10	1448	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	DCAF6_ENST00000367843.3_Missense_Mutation_p.S415F|DCAF6_ENST00000367840.3_Missense_Mutation_p.S415F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S384F	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	415					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						tctacatcctctacaatgtca	0.453																																																	0													91	81	85					1																	167973897		2203	4300	6503	SO:0001583	missense	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1244C>T	1.37:g.167973897C>T	ENSP00000311949:p.Ser415Phe		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.S415F	ENST00000312263.6	37	c.1244	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063534	0.55432	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.82255	-1.58;0.14;-1.53;-1.59	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.290993	0.33938	N	0.004420	D	0.82875	0.5132	L	0.40543	1.245	0.47123	D	0.999324	P;D;P;P	0.57571	0.917;0.98;0.668;0.489	P;P;B;B	0.58331	0.603;0.837;0.242;0.324	D	0.84481	0.0605	9	0.56958	D	0.05	.	17.2269	0.86973	0.0:1.0:0.0:0.0	.	384;415;415;415	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	F	415;384;415;415	ENSP00000356817:S415F;ENSP00000396238:S384F;ENSP00000311949:S415F;ENSP00000356814:S415F	ENSP00000311949:S415F	S	+	2	0	DCAF6	166240521	0.938000	0.31826	0.501000	0.27601	0.993000	0.82548	3.731000	0.55013	2.552000	0.86080	0.555000	0.69702	TCT	DCAF6	-	superfamily_WD40_repeat_dom		0.453	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	C	NM_018442		167973897	1	no_errors	ENST00000367840	ensembl	human	known	70_37	missense	SNP	0.986	T	T	167973897	C	T	167973897	3	4	24	1	0	0	0	0	1	0	0	0	4279	913	32	1	1282	1	DCAF6	1	167973897	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5620821	167973897	81276724	26	3447										
HMCN1	83872	genome.wustl.edu	37	chr1	186064492	186064492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcccagtatggcctggcttaGagatggccagcctctggggc	14	12	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:186064492G>A	ENST00000271588.4	+	68	10641	c.10412G>A	c.(10411-10413)aGa>aAa	p.R3471K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3471K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3471	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCTGGCTTAGAGATGGCCAG	0.517																																																	0													62	58	59					1																	186064492		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10412G>A	1.37:g.186064492G>A	ENSP00000271588:p.Arg3471Lys		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R3471K	ENST00000271588.4	37	c.10412	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	0.978	-0.698014	0.03279	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74002	-0.8;-0.8	5.2	-1.39	0.08997	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.289255	0.42548	N	0.000695	T	0.39989	0.1099	N	0.02247	-0.625	0.39990	D	0.975022	B	0.06786	0.001	B	0.09377	0.004	T	0.45469	-0.9259	10	0.02654	T	1	.	10.9234	0.47178	0.7998:0.0:0.2002:0.0	.	3471	Q96RW7	HMCN1_HUMAN	K	3471	ENSP00000271588:R3471K;ENSP00000356462:R3471K	ENSP00000271588:R3471K	R	+	2	0	HMCN1	184331115	1.000000	0.71417	0.471000	0.27229	0.333000	0.28666	1.050000	0.30404	-0.315000	0.08703	0.561000	0.74099	AGA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186064492	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.964	A	A	186064492	G	A	186064492	3	1	24	1	0	0	0	0	1	0	0	0	7240	942	33	1	10682	1	HMCN1	1	186064492	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	18090595	186064492	63186129	27	3448										
PRG4	10216	genome.wustl.edu	37	chr1	186276247	186276247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctacacccaccactcccaagGagcctgcacccaccaccaag	5	21	0	0	rs267598237		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:186276247G>A	ENST00000445192.2	+	7	1441	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PRG4_ENST00000367483.4_Missense_Mutation_p.E425K|PRG4_ENST00000367486.3_Missense_Mutation_p.E423K|PRG4_ENST00000367485.4_Missense_Mutation_p.E373K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	466	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACTCCCAAGGAGCCTGCACC	0.657																																																	0													87	96	93					1																	186276247		2203	4299	6502	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1396G>A	1.37:g.186276247G>A	ENSP00000399679:p.Glu466Lys		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E466K	ENST00000445192.2	37	c.1396	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	7.987	0.752489	0.15778	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.47;3.58;3.43;3.57	3.59	1.57	0.23409	.	2.712260	0.01998	N	0.046032	T	0.07234	0.0183	L	0.38175	1.15	0.09310	N	0.999998	B;B;B;B	0.28713	0.22;0.22;0.141;0.22	B;B;B;B	0.26517	0.07;0.07;0.032;0.07	T	0.39461	-0.9613	9	.	.	.	.	7.9812	0.30185	0.0941:0.1598:0.7461:0.0	.	332;373;466;425	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	423;332;425;373;466	ENSP00000356456:E423K;ENSP00000356453:E425K;ENSP00000356455:E373K;ENSP00000399679:E466K	.	E	+	1	0	PRG4	184542870	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-0.311000	0.08124	0.149000	0.19098	-0.931000	0.02705	GAG	PRG4	-	NULL		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	G	NM_005807		186276247	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.002	A	A	186276247	G	A	186276247	3	1	24	1	0	0	0	0	1	0	0	0	12508	1175	41	1	1418	1	PRG4	1	186276247	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	211755	186276247	62974374	28	3449										
IGFN1	91156	genome.wustl.edu	37	chr1	201185875	201185875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctgaggagatattggtggctCctgagggtgagagaaaaggc	17	5	0	5			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:201185875C>T	ENST00000335211.4	+	16	9719	c.9589C>T	c.(9589-9591)Cct>Tct	p.P3197S	IGFN1_ENST00000295591.8_Missense_Mutation_p.P357S	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	740						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATTGGTGGCTCCTGAGGGTGA	0.647																																																	0													28	35	33					1																	201185875		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9589C>T	1.37:g.201185875C>T	ENSP00000334714:p.Pro3197Ser		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P3197S	ENST00000335211.4	37	c.9589	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.98|11.98	1.799258|1.799258	0.31869|0.31869	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	D;D|.	0.82255|.	-1.59;-1.59|.	4.06|4.06	3.05|3.05	0.35203|0.35203	.|.	0.249386|.	0.33075|.	N|.	0.005302|.	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.51853|0.51853	1.615|1.615	0.27414|0.27414	N|N	0.954492|0.954492	B|.	0.22851|.	0.076|.	B|.	0.32762|.	0.152|.	T|T	0.36768|0.36768	-0.9734|-0.9734	10|5	0.15066|.	T|.	0.55|.	.|.	0.9857|0.9857	0.01446|0.01446	0.2196:0.3943:0.2134:0.1728|0.2196:0.3943:0.2134:0.1728	.|.	3197|.	F8WAI1|.	.|.	S|F	3197;357|614	ENSP00000334714:P3197S;ENSP00000295591:P357S|.	ENSP00000295591:P357S|.	P|S	+|+	1|2	0|0	IGFN1|IGFN1	199452498|199452498	0.279000|0.279000	0.24239|0.24239	0.998000|0.998000	0.56505|0.56505	0.838000|0.838000	0.47535|0.47535	1.674000|1.674000	0.37544|0.37544	2.096000|2.096000	0.63516|0.63516	0.561000|0.561000	0.74099|0.74099	CCT|TCC	IGFN1	-	superfamily_Fibronectin_type3		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201185875	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.936	T	T	201185875	C	T	201185875	3	4	24	1	0	0	0	0	1	0	0	0	7610	855	30	1	9647	1	IGFN1	1	201185875	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	14909628	201185875	48064746	29	3450										
IPO9	55705	genome.wustl.edu	37	chr1	201843430	201843430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtcaagatcctaaagctgatCatcaacgagctctccaacgt	7	12	4	2	rs572168085		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:201843430C>T	ENST00000361565.4	+	21	2832	c.2763C>T	c.(2761-2763)atC>atT	p.I921I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	921					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TAAAGCTGATCATCAACGAGC	0.522																																																	0													135	126	129					1																	201843430		2203	4300	6503	SO:0001819	synonymous_variant	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2763C>T	1.37:g.201843430C>T			B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I921	ENST00000361565.4	37	c.2763	CCDS1415.1	1																																																																																			IPO9	-	superfamily_ARM-type_fold		0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201843430	1	no_errors	ENST00000361565	ensembl	human	known	70_37	silent	SNP	1.000	T	T	201843430	C	T	201843430	2	4	24	1	0	0	0	0	0	0	0	1	7819	816	29	1		1	IPO9	1	201843430	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	657555	201843430	47407191	30	3451										
KDM5B	10765	genome.wustl.edu	37	chr1	202698923	202698923	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gttcggaataggatgtgtctGagggcagggaatgagtttca	16	4	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:202698923G>C	ENST00000367265.3	-	26	5573	c.4409C>G	c.(4408-4410)tCa>tGa	p.S1470*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1506*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1470					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATGTGTCTGAGGGCAGGGA	0.483																																																	0													187	173	178					1																	202698923		2203	4300	6503	SO:0001587	stop_gained	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4409C>G	1.37:g.202698923G>C	ENSP00000356234:p.Ser1470*		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S1470*	ENST00000367265.3	37	c.4409	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.671922	0.99234	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	.	.	.	5.44	5.44	0.79542	.	0.066958	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.2997	19.2668	0.93990	0.0:0.0:1.0:0.0	.	.	.	.	X	1470;1312;1506	.	ENSP00000356233:S1506X	S	-	2	0	KDM5B	200965546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.681000	0.68175	2.544000	0.85801	0.650000	0.86243	TCA	KDM5B	-	superfamily_Znf_FYVE_PHD		0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	G	NM_006618		202698923	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	202698923	G	C	202698923	4	2	24	1	0	0	0	0	0	1	0	0	8154	1294	45	1	233	1	KDM5B	1	202698923	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	855493	202698923	46551698	31	3452										
ZC3H11A	9877	genome.wustl.edu	37	chr1	203821436	203821436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaaactaatatgggagatttCaggaggcaaattggaagctg	13	4	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:203821436C>T	ENST00000545588.1	+	17	6169	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S781L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S781L|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S781L|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S781L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	781					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGGAGATTTCAGGAGGCAAA	0.463																																																	0													54	56	55					1																	203821436		2203	4300	6503	SO:0001583	missense	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2342C>T	1.37:g.203821436C>T	ENSP00000438527:p.Ser781Leu		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.S781L	ENST00000545588.1	37	c.2342	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812061	0.50527	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.69	5.69	0.88448	.	0.136830	0.51477	D	0.000086	T	0.52757	0.1754	M	0.72894	2.215	0.48288	D	0.999627	P	0.39131	0.661	B	0.38378	0.272	T	0.59451	-0.7452	10	0.87932	D	0	-25.6507	18.5924	0.91218	0.0:1.0:0.0:0.0	.	781	O75152	ZC11A_HUMAN	L	781;727;781;781;781;781	ENSP00000356183:S781L;ENSP00000356181:S781L;ENSP00000333253:S781L;ENSP00000438527:S781L;ENSP00000356179:S781L	ENSP00000333253:S781L	S	+	2	0	ZC3H11A	202088059	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.987000	0.70571	2.688000	0.91661	0.650000	0.86243	TCA	ZC3H11A	-	NULL		0.463	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203821436	1	no_errors	ENST00000332127	ensembl	human	known	70_37	missense	SNP	1.000	T	T	203821436	C	T	203821436	3	4	24	1	0	0	0	0	1	0	0	0	17590	838	29	1	2404	1	ZC3H11A	1	203821436	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1122513	203821436	45429185	32	3453										
PROX1	5629	genome.wustl.edu	37	chr1	214170608	214170608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gacagctgaaacagcagctgGaggacatgcagaaacagctg	13	9	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:214170608G>C	ENST00000366958.4	+	2	1338	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	PROX1_ENST00000498508.2_Missense_Mutation_p.E244Q|PROX1_ENST00000261454.4_Missense_Mutation_p.E244Q|PROX1_ENST00000435016.1_Missense_Mutation_p.E244Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	244					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACAGCAGCTGGAGGACATGCA	0.507																																																	0													43	45	45					1																	214170608		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.730G>C	1.37:g.214170608G>C	ENSP00000355925:p.Glu244Gln		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.E244Q	ENST00000366958.4	37	c.730	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875840	0.51695	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	L	0.41236	1.265	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.00909	-1.1518	10	0.30854	T	0.27	-4.9611	19.9472	0.97186	0.0:0.0:1.0:0.0	.	244	Q92786	PROX1_HUMAN	Q	244	ENSP00000420283:E244Q;ENSP00000355925:E244Q;ENSP00000400694:E244Q;ENSP00000261454:E244Q	ENSP00000261454:E244Q	E	+	1	0	PROX1	212237231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.727000	0.74764	2.805000	0.96524	0.655000	0.94253	GAG	PROX1	-	pfam_Prox1		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	G	NM_002763		214170608	1	no_errors	ENST00000261454	ensembl	human	known	70_37	missense	SNP	1.000	C	C	214170608	G	C	214170608	3	2	24	1	0	0	0	0	1	0	0	0	12587	1175	41	1	732	1	PROX1	1	214170608	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	10349172	214170608	35080013	33	3454			1	18		3	3	735	G		3.152373e-05
PROX1	5629	genome.wustl.edu	37	chr1	214170875	214170875	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agcgagaaggcaacaacaaaGaaagagaccatgggccaaac	11	9	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:214170875G>C	ENST00000366958.4	+	2	1605	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q	PROX1_ENST00000498508.2_Missense_Mutation_p.E333Q|PROX1_ENST00000261454.4_Missense_Mutation_p.E333Q|PROX1_ENST00000435016.1_Missense_Mutation_p.E333Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	333					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAACAACAAAGAAAGAGACCA	0.507																																																	0													118	116	116					1																	214170875		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.997G>C	1.37:g.214170875G>C	ENSP00000355925:p.Glu333Gln		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.E333Q	ENST00000366958.4	37	c.997	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	6.005	0.369368	0.11352	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.49	5.49	0.81192	.	0.473661	0.26439	N	0.024365	T	0.36717	0.0977	N	0.17474	0.49	0.45452	D	0.998427	B	0.27316	0.175	B	0.33254	0.16	T	0.15122	-1.0448	10	0.12103	T	0.63	-4.3598	19.3843	0.94550	0.0:0.0:1.0:0.0	.	333	Q92786	PROX1_HUMAN	Q	333	ENSP00000420283:E333Q;ENSP00000355925:E333Q;ENSP00000400694:E333Q;ENSP00000261454:E333Q	ENSP00000261454:E333Q	E	+	1	0	PROX1	212237498	1.000000	0.71417	0.997000	0.53966	0.326000	0.28443	4.991000	0.63883	2.574000	0.86865	0.563000	0.77884	GAA	PROX1	-	pfam_Prox1		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	G	NM_002763		214170875	1	no_errors	ENST00000261454	ensembl	human	known	70_37	missense	SNP	1.000	C	C	214170875	G	C	214170875	3	2	24	1	0	0	0	0	1	0	0	0	12587	943	33	1	999	1	PROX1	1	214170875	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	267	214170875	35079746	34	3455			1	18		3	3	735	G		3.152373e-05
PROX1	5629	genome.wustl.edu	37	chr1	214171342	214171342	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caccccttcccccttcccttGatggcctatccatttcagag	5	18	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:214171342G>C	ENST00000366958.4	+	2	2072	c.1464G>C	c.(1462-1464)ttG>ttC	p.L488F	PROX1_ENST00000498508.2_Missense_Mutation_p.L488F|PROX1_ENST00000261454.4_Missense_Mutation_p.L488F|PROX1_ENST00000435016.1_Missense_Mutation_p.L488F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	488					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCCTTCCCTTGATGGCCTATC	0.602																																																	0													79	89	86					1																	214171342		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1464G>C	1.37:g.214171342G>C	ENSP00000355925:p.Leu488Phe		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.L488F	ENST00000366958.4	37	c.1464	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905617	0.33628	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.57907	0.42;0.37;0.42;0.42	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.77820	2.39	0.50467	D	0.999875	D	0.76494	0.999	D	0.68483	0.958	T	0.69483	-0.5133	10	0.66056	D	0.02	-3.2489	5.6386	0.17550	0.0755:0.2237:0.5808:0.12	.	488	Q92786	PROX1_HUMAN	F	60;488;488;488;488	ENSP00000420283:L488F;ENSP00000355925:L488F;ENSP00000400694:L488F;ENSP00000261454:L488F	ENSP00000261454:L488F	L	+	3	2	PROX1	212237965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.155000	0.50700	1.390000	0.46547	0.655000	0.94253	TTG	PROX1	-	pfam_Prox1		0.602	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	G	NM_002763		214171342	1	no_errors	ENST00000261454	ensembl	human	known	70_37	missense	SNP	1.000	C	C	214171342	G	C	214171342	3	2	24	1	0	0	0	0	1	0	0	0	12587	1281	45	1	1466	1	PROX1	1	214171342	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	467	214171342	35079279	35	3456			1	18		3	3	735	G		3.152373e-05
CDC42BPA	8476	genome.wustl.edu	37	chr1	227335194	227335194	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tccatatctcccttttccatCttccatggcttgaaggattt	5	12	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:227335194C>G	ENST00000366769.3	-	7	2051	c.760G>C	c.(760-762)Gat>Cat	p.D254H	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D254H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D254H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D254H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D254H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D254H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D254H	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCTTTTCCATCTTCCATGGCT	0.403																																																	0													111	103	106					1																	227335194		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.760G>C	1.37:g.227335194C>G	ENSP00000355731:p.Asp254His			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D254H	ENST00000366769.3	37	c.760	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.144095	0.94603	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.69926	-0.41;-0.39;-0.41;-0.42;-0.44;-0.4;-0.41	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.998;0.994;0.999	T	0.75434	-0.3319	10	0.54805	T	0.06	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	254;254;254;254	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	H	254	ENSP00000355731:D254H;ENSP00000355729:D254H;ENSP00000335341:D254H;ENSP00000355728:D254H;ENSP00000355726:D254H;ENSP00000443275:D254H;ENSP00000355727:D254H	ENSP00000335341:D254H	D	-	1	0	CDC42BPA	225401817	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.783000	0.85696	2.626000	0.88956	0.650000	0.86243	GAT	CDC42BPA	-	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		0.403	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	C	NM_014826		227335194	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	G	G	227335194	C	G	227335194	3	3	24	1	0	0	0	0	1	0	0	0	3077	913	32	1	4519	1	CDC42BPA	1	227335194	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	13163852	227335194	21915427	36	3457										
HEATR1	55127	genome.wustl.edu	37	chr1	236717916	236717916	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acctgatccaccagaggcatCatcaaggcttctgctctctc	7	15	4	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:236717916C>T	ENST00000366582.3	-	42	6174	c.6060G>A	c.(6058-6060)atG>atA	p.M2020I	HEATR1_ENST00000366581.2_Missense_Mutation_p.M1939I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2020					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAGAGGCATCATCAAGGCTT	0.408																																																	0													90	89	89					1																	236717916		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6060G>A	1.37:g.236717916C>T	ENSP00000355541:p.Met2020Ile		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.M2020I	ENST00000366582.3	37	c.6060	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852609	0.91355	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62941	-0.01;-0.01	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.076561	0.85682	D	0.000000	T	0.75708	0.3886	M	0.82056	2.57	0.80722	D	1	B;D	0.58620	0.374;0.983	B;P	0.53102	0.241;0.718	T	0.74636	-0.3599	10	0.38643	T	0.18	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1939;2020	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	I	2020;1939	ENSP00000355541:M2020I;ENSP00000355540:M1939I	ENSP00000355540:M1939I	M	-	3	0	HEATR1	234784539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.099000	0.76981	2.941000	0.99782	0.655000	0.94253	ATG	HEATR1	-	superfamily_ARM-type_fold		0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236717916	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	236717916	C	T	236717916	3	4	24	1	0	0	0	0	1	0	0	0	7047	826	29	1	390	1	HEATR1	1	236717916	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	9382722	236717916	12532705	37	3458										
RYR2	6262	genome.wustl.edu	37	chr1	237947567	237947567	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaaggcggagagaaagagaaGatggaactctttgtgaactt	14	4	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:237947567G>A	ENST00000366574.2	+	90	12872	c.12555G>A	c.(12553-12555)aaG>aaA	p.K4185K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.K4191K|RYR2_ENST00000542537.1_Silent_p.K4169K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4185					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAGAGAAGATGGAACTCT	0.517																																																	0													86	90	89					1																	237947567		1987	4187	6174	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12555G>A	1.37:g.237947567G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.K4191	ENST00000366574.2	37	c.12573	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237947567	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A	A	237947567	G	A	237947567	2	1	24	1	0	0	0	0	0	0	0	1	13799	933	33	1		1	RYR2	1	237947567	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1229651	237947567	11303054	38	3459										
OR2G2	81470	genome.wustl.edu	37	chr1	247752501	247752501	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggcaagtttgtttctctcttCtacactgtggtaacccgcat	8	11	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr1:247752501C>G	ENST00000320065.1	+	1	840	c.840C>G	c.(838-840)ttC>ttG	p.F280L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCTCTTCTACACTGTGG	0.463																																																	0													139	137	138					1																	247752501		2203	4300	6503	SO:0001583	missense	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.840C>G	1.37:g.247752501C>G	ENSP00000326349:p.Phe280Leu		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F280L	ENST00000320065.1	37	c.840	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429659	0.43122	.	.	ENSG00000177489	ENST00000320065	T	0.00032	8.88	4.29	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.186497	0.25427	U	0.030760	T	0.00144	0.0004	L	0.42008	1.315	0.26408	N	0.976313	B	0.28350	0.208	B	0.33690	0.168	T	0.27365	-1.0076	10	0.66056	D	0.02	.	3.6645	0.08250	0.1719:0.5346:0.0:0.2934	.	280	Q8NGZ5	OR2G2_HUMAN	L	280	ENSP00000326349:F280L	ENSP00000326349:F280L	F	+	3	2	OR2G2	245819124	0.000000	0.05858	0.999000	0.59377	0.954000	0.61252	-1.963000	0.01513	0.447000	0.26695	0.591000	0.81541	TTC	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	C			247752501	1	no_errors	ENST00000320065	ensembl	human	known	70_37	missense	SNP	0.863	G	G	247752501	C	G	247752501	3	3	24	1	0	0	0	0	1	0	0	0	11022	912	32	1	842	1	OR2G2	1	247752501	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	9804934	247752501	1498120	39	3460										
NBAS	51594	genome.wustl.edu	37	chr2	15432833	15432833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaggtcttcaggccaggcttCgtgctcatgtcgagtcacat	11	11	4	0	rs145651640		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:15432833C>T	ENST00000281513.5	-	41	4880	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1499K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1619					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAGGCTTCGTGCTCATGT	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		21216	0		0	False		,,,				2504	0																0								C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	115	100	105		4855	2.9	0.6	2	dbSNP_134	105	0,8600		0,0,4300	no	missense	NBAS	NM_015909.2	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	1619/2372	15432833	3,13003	2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4855G>A	2.37:g.15432833C>T	ENSP00000281513:p.Glu1619Lys		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.E1619K	ENST00000281513.5	37	c.4855	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285679	0.01387	6.81E-4	0.0	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09817	2.94;3.11	5.84	2.91	0.33838	.	0.545426	0.19800	N	0.105767	T	0.07052	0.0179	L	0.41236	1.265	0.09310	N	1	P;B	0.36959	0.575;0.027	B;B	0.26310	0.068;0.004	T	0.32025	-0.9922	10	0.87932	D	0	.	4.9875	0.14198	0.1069:0.5297:0.2303:0.133	.	1499;1619	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	K	1499;1619	ENSP00000413201:E1499K;ENSP00000281513:E1619K	ENSP00000281513:E1619K	E	-	1	0	NBAS	15350284	0.000000	0.05858	0.575000	0.28536	0.162000	0.22319	0.198000	0.17217	0.837000	0.34925	-0.217000	0.12591	GAA	NBAS	-	NULL		0.468	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15432833	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	0.011	T	T	15432833	C	T	15432833	3	4	24	1	0	0	0	0	1	0	0	0	10209	893	31	1	2308	1	NBAS	2	15432833	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		15432833	227766540	40	3461										
APOB	338	genome.wustl.edu	37	chr2	21233619	21233619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctcaacggcatctctcatctCtaaagcatcaatgatattga	5	11	5	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:21233619C>G	ENST00000233242.1	-	26	6248	c.6121G>C	c.(6121-6123)Gag>Cag	p.E2041Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2041					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTCATCTCTAAAGCATCA	0.403																																																	0													105	110	108					2																	21233619		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6121G>C	2.37:g.21233619C>G	ENSP00000233242:p.Glu2041Gln		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E2041Q	ENST00000233242.1	37	c.6121	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	9.079	0.998784	0.19121	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00784	5.7	5.32	2.4	0.29515	.	0.468333	0.18191	N	0.148806	T	0.00906	0.0030	L	0.60455	1.87	0.19575	N	0.999969	B	0.14438	0.01	B	0.09377	0.004	T	0.48479	-0.9032	10	0.27785	T	0.31	.	3.5907	0.07987	0.1386:0.5813:0.1339:0.1462	.	2041	P04114	APOB_HUMAN	Q	2041	ENSP00000233242:E2041Q	ENSP00000233242:E2041Q	E	-	1	0	APOB	21087124	0.000000	0.05858	0.004000	0.12327	0.843000	0.47879	0.030000	0.13688	0.185000	0.20105	0.561000	0.74099	GAG	APOB	-	NULL		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21233619	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.002	G	G	21233619	C	G	21233619	3	3	24	1	0	0	0	0	1	0	0	0	785	922	32	1	7586	1	APOB	2	21233619	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5800786	21233619	221965754	41	3462										
STON1	11037	genome.wustl.edu	37	chr2	48808940	48808940	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	accatgacttccttgactttCtgactactgtggaggaggag	11	9	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:48808940C>T	ENST00000406226.1	+	3	1363	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	STON1-GTF2A1L_ENST00000394754.1_Silent_p.L390L|STON1_ENST00000404752.1_Silent_p.L390L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L390L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L390L|STON1_ENST00000309835.3_Silent_p.L390L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L390L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L390L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	390	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTGACTTTCTGACTACTGT	0.418																																																	0													73	72	73					2																	48808940		2203	4300	6503	SO:0001819	synonymous_variant	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1168C>T	2.37:g.48808940C>T			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.L390	ENST00000406226.1	37	c.1168	CCDS1841.1	2																																																																																			STON1-GTF2A1L	-	pfscan_SHD		0.418	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	C	NM_006873		48808940	1	no_errors	ENST00000309827	ensembl	human	known	70_37	silent	SNP	0.995	T	T	48808940	C	T	48808940	2	4	24	1	0	0	0	0	0	0	0	1	15346	912	32	1		1	STON1	2	48808940	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	27575321	48808940	194390433	42	3463										
RTN4	57142	genome.wustl.edu	37	chr2	55252291	55252291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctctttttctgtatcggaagGaagttttttctcagcttctt	7	8	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:55252291G>A	ENST00000337526.6	-	3	3187	c.2944C>T	c.(2944-2946)Cct>Tct	p.P982S	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.P776S|RTN4_ENST00000354474.6_Missense_Mutation_p.P750S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.P776S|RTN4_ENST00000394611.2_Missense_Mutation_p.P776S|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.P776S	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	982					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTATCGGAAGGAAGTTTTTTC	0.398																																																	0													138	135	136					2																	55252291		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2944C>T	2.37:g.55252291G>A	ENSP00000337838:p.Pro982Ser		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.P982S	ENST00000337526.6	37	c.2944	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131349	0.37630	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.23	5.26	5.26	0.73747	.	0.638753	0.16163	N	0.226664	T	0.28167	0.0695	M	0.67953	2.075	0.39302	D	0.964925	D	0.56521	0.976	P	0.49922	0.626	T	0.04825	-1.0924	10	0.21014	T	0.42	-6.339	14.8252	0.70107	0.0:0.1866:0.8133:0.0	.	982	Q9NQC3	RTN4_HUMAN	S	776;776;982;776;776;750	ENSP00000384471:P776S;ENSP00000349944:P776S;ENSP00000337838:P982S;ENSP00000378109:P776S;ENSP00000385650:P776S;ENSP00000346465:P750S	ENSP00000337838:P982S	P	-	1	0	RTN4	55105795	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	1.587000	0.36622	2.460000	0.83146	0.467000	0.42956	CCT	RTN4	-	NULL		0.398	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	G			55252291	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	missense	SNP	0.978	A	A	55252291	G	A	55252291	3	1	24	1	0	0	0	0	1	0	0	0	13758	1174	41	1	700	1	RTN4	2	55252291	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6443351	55252291	187947082	43	3464										
RTN4	57142	genome.wustl.edu	37	chr2	55253040	55253040	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aggaatcttcaactagctcaGaatgatcaggcactggctgt	10	9	4	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:55253040G>C	ENST00000337526.6	-	3	2438	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S526C|RTN4_ENST00000354474.6_Missense_Mutation_p.S500C|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.S526C|RTN4_ENST00000394611.2_Missense_Mutation_p.S526C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.S526C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	732					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AACTAGCTCAGAATGATCAGG	0.383																																																	0													62	64	63					2																	55253040		2203	4299	6502	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2195C>G	2.37:g.55253040G>C	ENSP00000337838:p.Ser732Cys		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S732C	ENST00000337526.6	37	c.2195	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	G	9.822	1.186117	0.21870	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.19532	2.15;2.15;2.14;2.15;2.15;2.15	5.55	4.67	0.58626	.	0.443469	0.21869	N	0.067907	T	0.19725	0.0474	M	0.62723	1.935	0.21897	N	0.999482	B	0.19583	0.037	B	0.12837	0.008	T	0.18366	-1.0339	10	0.33141	T	0.24	-6.9007	5.955	0.19269	0.0737:0.1285:0.6475:0.1502	.	732	Q9NQC3	RTN4_HUMAN	C	526;526;732;526;526;500	ENSP00000384471:S526C;ENSP00000349944:S526C;ENSP00000337838:S732C;ENSP00000378109:S526C;ENSP00000385650:S526C;ENSP00000346465:S500C	ENSP00000337838:S732C	S	-	2	0	RTN4	55106544	1.000000	0.71417	0.975000	0.42487	0.984000	0.73092	0.653000	0.24902	1.298000	0.44778	0.655000	0.94253	TCT	RTN4	-	NULL		0.383	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	G			55253040	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	missense	SNP	0.957	C	C	55253040	G	C	55253040	3	2	24	1	0	0	0	0	1	0	0	0	13758	942	33	1	1449	1	RTN4	2	55253040	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	749	55253040	187946333	44	3465										
XPO1	7514	genome.wustl.edu	37	chr2	61709528	61709528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tatttactcttgtaggtgagGgaaggccgacttaaggagat	13	5	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:61709528G>A	ENST00000401558.2	-	23	3686	c.2959C>T	c.(2959-2961)Cct>Tct	p.P987S	XPO1_ENST00000406957.1_Missense_Mutation_p.P987S|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.P987S|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	987					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTAGGTGAGGGAAGGCCGAC	0.408			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													127	128	128					2																	61709528		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2959C>T	2.37:g.61709528G>A	ENSP00000384863:p.Pro987Ser		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P987S	ENST00000401558.2	37	c.2959	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673379	0.67928	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.64803	-0.12;-0.12;-0.12	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.38838	1.175	0.80722	D	1	B;B	0.12013	0.005;0.004	B;B	0.15052	0.012;0.003	T	0.51244	-0.8730	10	0.48119	T	0.1	-15.4604	19.6691	0.95903	0.0:0.0:1.0:0.0	.	634;987	B3KWD0;O14980	.;XPO1_HUMAN	S	987	ENSP00000384863:P987S;ENSP00000385942:P987S;ENSP00000385559:P987S	ENSP00000384863:P987S	P	-	1	0	XPO1	61563032	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.755000	0.98912	2.721000	0.93114	0.591000	0.81541	CCT	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold		0.408	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	G	NM_003400		61709528	-1	no_errors	ENST00000401558	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61709528	G	A	61709528	3	1	24	1	0	0	0	0	1	0	0	0	17476	1232	43	4	268	4	XPO1	2	61709528	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6456488	61709528	181489845	45	3466										
SLC1A4	6509	genome.wustl.edu	37	chr2	65217093	65217093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgtcgggcgccgcctcgctcGatgccagctgcctcgggcgt	15	16	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:65217093G>A	ENST00000234256.3	+	1	559	c.316G>A	c.(316-318)Gat>Aat	p.D106N	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	106					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGCCTCGCTCGATGCCAGCTG	0.677																																																	0													9	11	10					2																	65217093		2191	4280	6471	SO:0001583	missense	6509				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.316G>A	2.37:g.65217093G>A	ENSP00000234256:p.Asp106Asn		B7Z3C0|D6W5F0	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.D106N	ENST00000234256.3	37	c.316	CCDS1879.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.811361	0.96975	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.60672	0.17	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	T	0.79734	-0.1679	10	0.87932	D	0	-19.6832	17.2415	0.87014	0.0:0.0:1.0:0.0	.	106;106	P43007;B2R7N6	SATT_HUMAN;.	N	26;106	ENSP00000234256:D106N	ENSP00000234256:D106N	D	+	1	0	SLC1A4	65070597	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	9.155000	0.94700	2.481000	0.83766	0.555000	0.69702	GAT	SLC1A4	-	pfam_Na-dicarboxylate_symporter		0.677	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A4	HGNC	protein_coding	OTTHUMT00000251726.2	G	NM_003038		65217093	1	no_errors	ENST00000234256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65217093	G	A	65217093	3	1	24	1	0	0	0	0	1	0	0	0	14464	1058	37	1	318	1	SLC1A4	2	65217093	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3507565	65217093	177982280	46	3467										
GFPT1	2673	genome.wustl.edu	37	chr2	69565691	69565691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agtcagctcctcaagaacttGacgtgtctgcagagaaaata	9	9	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:69565691G>C	ENST00000357308.4	-	14	1388	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E	GFPT1_ENST00000361060.5_Missense_Mutation_p.Q386E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	404	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCAAGAACTTGACGTGTCTGC	0.408																																																	0													104	100	101					2																	69565691		2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1210C>G	2.37:g.69565691G>C	ENSP00000349860:p.Gln404Glu		Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.Q404E	ENST00000357308.4	37	c.1210	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394281	0.83011	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.63255	-0.03;-0.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.46741	1.465	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.74435	-0.3666	10	0.51188	T	0.08	-12.6661	17.3627	0.87355	0.0:0.0:1.0:0.0	.	386	Q06210-2	.	E	404;386	ENSP00000349860:Q404E;ENSP00000354347:Q386E	ENSP00000349860:Q404E	Q	-	1	0	GFPT1	69419195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.568000	0.98166	2.579000	0.87056	0.650000	0.86243	CAA	GFPT1	-	pfam_SIS,tigrfam_GlmS_trans		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		G			69565691	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69565691	G	C	69565691	3	2	24	1	0	0	0	0	1	0	0	0	6364	1299	45	1	917	1	GFPT1	2	69565691	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	4348598	69565691	173633682	47	3468										
DUSP11	8446	genome.wustl.edu	37	chr2	74007169	74007169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccagtccggcgccctcaatgCcaggataagaccctaaacag	9	15	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:74007169C>A	ENST00000272444.3	-	1	115	c.74G>T	c.(73-75)gGc>gTc	p.G25V	DUSP11_ENST00000443070.1_Missense_Mutation_p.G25V|DUSP11_ENST00000480948.1_5'Flank|DUSP11_ENST00000377706.4_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	0					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GCCCTCAATGCCAGGATAAGA	0.632											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32	42	39					2																	74007169		692	1591	2283	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.74G>T	2.37:g.74007169C>A	ENSP00000272444:p.Gly25Val	1149	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase	p.G25V	ENST00000272444.3	37	c.74	CCDS1928.2	2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.797074	0.50208	.	.	ENSG00000144048	ENST00000272444;ENST00000443070	T	0.39056	1.1	4.38	2.3	0.28687	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.21697	N	0.999584	B	0.18310	0.027	B	0.11329	0.006	T	0.23013	-1.0200	9	0.87932	D	0	.	9.6181	0.39704	0.5131:0.4869:0.0:0.0	.	25	C9JYA6	.	V	25	ENSP00000413444:G25V	ENSP00000272444:G25V	G	-	2	0	DUSP11	73860677	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.501000	0.22578	0.575000	0.29434	0.655000	0.94253	GGC	DUSP11	-	NULL		0.632	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP11	HGNC	protein_coding	OTTHUMT00000252047.3	C			74007169	-1	no_errors	ENST00000272444	ensembl	human	known	70_37	missense	SNP	0.001	A	A	74007169	C	A	74007169	3	1	24	1	0	0	0	0	1	0	0	0	4821	739	26	4	1095	4	DUSP11	2	74007169	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4441478	74007169	169192204	48	3469										
LOXL3	84695	genome.wustl.edu	37	chr2	74762422	74762422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccccctccttcactcactctCagaacagatgactccagcag	5	18	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:74762422C>G	ENST00000264094.3	-	9	1647	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E381Q|LOXL3_ENST00000409549.1_Missense_Mutation_p.E470Q|LOXL3_ENST00000393937.2_Missense_Mutation_p.E381Q	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	526					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACTCACTCTCAGAACAGATG	0.592																																																	0													70	56	61					2																	74762422		2203	4300	6503	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1576G>C	2.37:g.74762422C>G	ENSP00000264094:p.Glu526Gln		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.E526Q	ENST00000264094.3	37	c.1576	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740125	0.49045	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.02	4.14	0.48551	Speract/scavenger receptor-related (1);	0.166079	0.52532	D	0.000068	T	0.33265	0.0857	L	0.39397	1.21	0.45515	D	0.998477	B;B;B;D	0.58268	0.051;0.0;0.019;0.982	B;B;B;P	0.52793	0.03;0.005;0.04;0.709	T	0.03231	-1.1058	10	0.21540	T	0.41	.	11.3652	0.49668	0.0:0.9116:0.0:0.0884	.	381;470;381;526	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Q	526;381;470;381	ENSP00000264094:E526Q;ENSP00000377512:E381Q;ENSP00000386696:E470Q;ENSP00000386545:E381Q	ENSP00000264094:E526Q	E	-	1	0	LOXL3	74615930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.733000	0.62036	1.479000	0.48272	0.563000	0.77884	GAG	LOXL3	-	superfamily_Srcr_rcpt-rel		0.592	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	C	NM_032603		74762422	-1	no_errors	ENST00000264094	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74762422	C	G	74762422	3	3	24	1	0	0	0	0	1	0	0	0	8924	835	29	1	709	1	LOXL3	2	74762422	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	755253	74762422	168436951	49	3470										
EIF5B	9669	genome.wustl.edu	37	chr2	99992929	99992929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aggaagaggagggagaaagtGaaggcagtgaaggtgatgag	20	1	0	6			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:99992929G>A	ENST00000289371.6	+	10	1874	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	558	Asp/Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						gggagaaAGTGAAGGCAGTGA	0.418																																					Colon(162;2388 2567 2705 3444)												0													69	71	70					2																	99992929		2114	4223	6337	SO:0001583	missense	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1672G>A	2.37:g.99992929G>A	ENSP00000289371:p.Glu558Lys		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.E558K	ENST00000289371.6	37	c.1672	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838268	0.51057	.	.	ENSG00000158417	ENST00000289371	T	0.46819	0.86	6.17	6.17	0.99709	.	.	.	.	.	T	0.37571	0.1008	L	0.33485	1.01	0.80722	D	1	P	0.36282	0.546	B	0.26770	0.073	T	0.10382	-1.0632	8	.	.	.	-20.0845	20.8794	0.99867	0.0:0.0:1.0:0.0	.	558	O60841	IF2P_HUMAN	K	558	ENSP00000289371:E558K	.	E	+	1	0	EIF5B	99359361	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.941000	0.99782	0.655000	0.94253	GAA	EIF5B	-	NULL		0.418	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	G	NM_015904		99992929	1	no_errors	ENST00000289371	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99992929	G	A	99992929	3	1	24	1	0	0	0	0	1	0	0	0	5056	1291	45	1	1710	1	EIF5B	2	99992929	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	25230507	99992929	143206444	50	3471										
LONRF2	164832	genome.wustl.edu	37	chr2	100903453	100903453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	catgcgatcctggagagacgCgaaccaggaaacagactgtt	12	10	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:100903453C>T	ENST00000393437.3	-	11	2632	c.1993G>A	c.(1993-1995)Gcg>Acg	p.A665T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A422T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	665	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGGAGAGACGCGAACCAGGAA	0.488																																																	0													124	103	110					2																	100903453		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1993G>A	2.37:g.100903453C>T	ENSP00000377086:p.Ala665Thr		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.A665T	ENST00000393437.3	37	c.1993	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045986	0.19748	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.42131	0.98;0.98	4.95	-2.39	0.06602	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.358147	0.30901	N	0.008647	T	0.08223	0.0205	N	0.00436	-1.5	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.36672	-0.9738	10	0.10377	T	0.69	-0.2116	4.5696	0.12203	0.2661:0.1456:0.0:0.5883	.	665	Q1L5Z9	LONF2_HUMAN	T	665;422	ENSP00000377086:A665T;ENSP00000386823:A422T	ENSP00000377086:A665T	A	-	1	0	LONRF2	100269885	1.000000	0.71417	0.001000	0.08648	0.817000	0.46193	2.209000	0.42806	-0.335000	0.08451	0.655000	0.94253	GCG	LONRF2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	C	NM_198461		100903453	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	0.123	T	T	100903453	C	T	100903453	3	4	24	1	0	0	0	0	1	0	0	0	8918	768	27	2	279	2	LONRF2	2	100903453	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	910524	100903453	142295920	51	3472										
C2orf76	130355	genome.wustl.edu	37	chr2	120069238	120069238	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtgctgtcttctttcagcagGagtctttcgtcatcttccaa	8	11	6	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:120069238G>C	ENST00000409466.2	-	6	785	c.264C>G	c.(262-264)ctC>ctG	p.L88L	C2orf76_ENST00000409877.1_Silent_p.L88L|C2orf76_ENST00000409523.1_Silent_p.L88L|C2orf76_ENST00000334816.7_Silent_p.L88L			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	88										large_intestine(1)|lung(3)|pancreas(1)	5						CTTTCAGCAGGAGTCTTTCGT	0.463																																																	0													92	88	89					2																	120069238		1882	4114	5996	SO:0001819	synonymous_variant	130355				CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.264C>G	2.37:g.120069238G>C			B7ZLS8|Q4VC35	Silent	SNP	pfam_UPF0538	p.L88	ENST00000409466.2	37	c.264	CCDS42739.1	2																																																																																			C2orf76	-	pfam_UPF0538		0.463	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf76	HGNC	protein_coding	OTTHUMT00000330582.2	G	NM_001017927		120069238	-1	no_errors	ENST00000334816	ensembl	human	known	70_37	silent	SNP	0.982	C	C	120069238	G	C	120069238	2	2	24	1	0	0	0	0	0	0	0	1	2198	1161	41	1		1	C2orf76	2	120069238	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	19165785	120069238	123130135	52	3473										
BIN1	274	genome.wustl.edu	37	chr2	127827588	127827588	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caccttgatgtcggggaactGgcccaggtacgtgtccatgg	14	11	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:127827588G>A	ENST00000316724.5	-	5	805	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	BIN1_ENST00000409400.1_Nonsense_Mutation_p.Q132*|BIN1_ENST00000352848.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000393041.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000357970.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000259238.4_Nonsense_Mutation_p.Q132*|BIN1_ENST00000393040.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000351659.3_Nonsense_Mutation_p.Q132*|BIN1_ENST00000376113.2_Nonsense_Mutation_p.Q132*|BIN1_ENST00000348750.4_Nonsense_Mutation_p.Q132*|BIN1_ENST00000346226.3_Nonsense_Mutation_p.Q132*	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	132	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCGGGGAACTGGCCCAGGTAC	0.607																																																	0													134	105	115					2																	127827588		2203	4300	6503	SO:0001587	stop_gained	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.394C>T	2.37:g.127827588G>A	ENSP00000316779:p.Gln132*		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.Q132*	ENST00000316724.5	37	c.394	CCDS2138.1	2	.	.	.	.	.	.	.	.	.	.	.	40	8.011155	0.98607	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	.	.	.	4.8	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.6667	13.4965	0.61428	0.0:0.0:0.8437:0.1563	.	.	.	.	X	132	.	ENSP00000259238:Q132X	Q	-	1	0	BIN1	127544058	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.280000	0.95786	2.501000	0.84356	0.556000	0.70494	CAG	BIN1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin		0.607	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	G	NM_139343		127827588	-1	no_errors	ENST00000316724	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	127827588	G	A	127827588	4	1	24	1	0	0	0	0	0	1	0	0	1433	1357	47	4	1496	4	BIN1	2	127827588	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	7758350	127827588	115371785	53	3474										
LRP1B	53353	genome.wustl.edu	37	chr2	141243034	141243034	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttttctgtgtcagaccaataGaggttttttccaatccaatc	6	9	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:141243034G>C	ENST00000389484.3	-	59	10274	c.9303C>G	c.(9301-9303)ctC>ctG	p.L3101L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3101					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGACCAATAGAGGTTTTTTC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													137	129	132					2																	141243034		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9303C>G	2.37:g.141243034G>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L3101	ENST00000389484.3	37	c.9303	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141243034	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	silent	SNP	0.994	C	C	141243034	G	C	141243034	2	2	24	1	0	0	0	0	0	0	0	1	8978	929	33	1		1	LRP1B	2	141243034	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	13415446	141243034	101956339	54	3475										
TNFAIP6	7130	genome.wustl.edu	37	chr2	152226592	152226592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atttttaaatctccaggcttCccaaatgagtacgaagataa	6	8	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:152226592C>T	ENST00000243347.3	+	4	528	c.453C>T	c.(451-453)ttC>ttT	p.F151F	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	151	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	CTCCAGGCTTCCCAAATGAGT	0.383																																																	0													135	136	136					2																	152226592		2203	4300	6503	SO:0001819	synonymous_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.453C>T	2.37:g.152226592C>T			Q53TI7|Q8WWI9	Silent	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.F151	ENST00000243347.3	37	c.453	CCDS2193.1	2																																																																																			TNFAIP6	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.383	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	C	NM_007115		152226592	1	no_errors	ENST00000243347	ensembl	human	known	70_37	silent	SNP	0.997	T	T	152226592	C	T	152226592	2	4	24	1	0	0	0	0	0	0	0	1	16305	854	30	1		1	TNFAIP6	2	152226592	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	10983558	152226592	90972781	55	3476										
UPP2	151531	genome.wustl.edu	37	chr2	158977950	158977950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagggactgttgtaataacgGatatagctgtagactccttc	10	8	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:158977950G>A	ENST00000005756.4	+	5	678	c.484G>A	c.(484-486)Gat>Aat	p.D162N	UPP2_ENST00000605860.1_Missense_Mutation_p.D219N|UPP2_ENST00000409859.4_Missense_Mutation_p.D219N|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	162					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TGTAATAACGGATATAGCTGT	0.398																																																	0													219	224	222					2																	158977950		2203	4299	6502	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.484G>A	2.37:g.158977950G>A	ENSP00000005756:p.Asp162Asn		B3KV87	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.D219N	ENST00000005756.4	37	c.655	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621076	0.46736	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.88201	-2.35;-2.35	5.52	5.52	0.82312	Nucleoside phosphorylase domain (1);	0.097549	0.64402	D	0.000002	D	0.90133	0.6917	M	0.63428	1.95	0.49582	D	0.999801	P	0.43578	0.811	P	0.46543	0.52	D	0.89270	0.3604	10	0.38643	T	0.18	.	18.0144	0.89235	0.0:0.0:1.0:0.0	.	162	O95045	UPP2_HUMAN	N	219;162	ENSP00000387230:D219N;ENSP00000005756:D162N	ENSP00000005756:D162N	D	+	1	0	UPP2	158686196	1.000000	0.71417	0.024000	0.17045	0.036000	0.12997	4.643000	0.61390	2.603000	0.88011	0.561000	0.74099	GAT	UPP2	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk		0.398	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	G	NM_173355		158977950	1	no_errors	ENST00000409859	ensembl	human	known	70_37	missense	SNP	0.834	A	A	158977950	G	A	158977950	3	1	24	1	0	0	0	0	1	0	0	0	17044	1174	41	1	681	1	UPP2	2	158977950	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6751358	158977950	84221423	56	3477										
SLC25A12	8604	genome.wustl.edu	37	chr2	172648021	172648021	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtgtccattttcatcagccaGaagtagtttgcaatgagcat	9	8	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:172648021G>A	ENST00000422440.2	-	15	1562	c.1525C>T	c.(1525-1527)Ctg>Ttg	p.L509L	SLC25A12_ENST00000392592.4_Silent_p.L402L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	509					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|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)	integral component of membrane (GO:0016021)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCATCAGCCAGAAGTAGTTTG	0.423																																																	0													102	100	101					2																	172648021		2203	4300	6503	SO:0001819	synonymous_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1525C>T	2.37:g.172648021G>A			B3KR64|Q96AM8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L509	ENST00000422440.2	37	c.1525	CCDS33327.1	2																																																																																			SLC25A12	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom		0.423	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172648021	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	silent	SNP	0.213	A	A	172648021	G	A	172648021	2	1	24	1	0	0	0	0	0	0	0	1	14504	933	33	1		1	SLC25A12	2	172648021	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	13670071	172648021	70551352	57	3478										
NCKAP1	10787	genome.wustl.edu	37	chr2	183860443	183860443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccatacagtgtcggactgtgCtggattaagcattgtactag	11	8	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:183860443C>T	ENST00000361354.4	-	7	1099	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.A249T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	243					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCGGACTGTGCTGGATTAAGC	0.368																																																	0													121	120	121					2																	183860443		2203	4300	6503	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.727G>A	2.37:g.183860443C>T	ENSP00000355348:p.Ala243Thr		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.A249T	ENST00000361354.4	37	c.745	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130764	0.77549	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35236	1.32;1.32	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.43701	1.375	0.80722	D	1	B;P	0.35401	0.357;0.499	B;B	0.30316	0.114;0.069	T	0.12066	-1.0562	10	0.54805	T	0.06	-15.8431	20.1438	0.98071	0.0:1.0:0.0:0.0	.	243;249	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	243;249	ENSP00000355348:A243T;ENSP00000354251:A249T	ENSP00000354251:A249T	A	-	1	0	NCKAP1	183568688	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.818000	0.86416	2.768000	0.95171	0.650000	0.86243	GCA	NCKAP1	-	pfam_Nck-associated_protein-1		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	C	NM_205842		183860443	-1	no_errors	ENST00000360982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183860443	C	T	183860443	3	4	24	1	0	0	0	0	1	0	0	0	10245	797	28	4	2759	4	NCKAP1	2	183860443	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	11212422	183860443	59338930	58	3479										
NOP58	51602	genome.wustl.edu	37	chr2	203155173	203155173	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acatactgcaagtgtttacaGaaagttggtgagtaatttgt	10	4	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:203155173G>A	ENST00000264279.5	+	7	853	c.627G>A	c.(625-627)caG>caA	p.Q209Q	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	209				LTYCKCLQKVGDRKNYASAK -> YHTASVYRKLAIGRLCL CQ (in Ref. 6; AAF29084). {ECO:0000305}.	cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGTGTTTACAGAAAGTTGGTG	0.318																																																	0																																										SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.627G>A	2.37:g.203155173G>A			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.Q209	ENST00000264279.5	37	c.627	CCDS2353.1	2																																																																																			NOP58	-	pfam_NOSIC,smart_NOSIC		0.318	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203155173	1	no_errors	ENST00000264279	ensembl	human	known	70_37	silent	SNP	1.000	A	A	203155173	G	A	203155173	2	1	24	1	0	0	0	0	0	0	0	1	10564	933	33	1		1	NOP58	2	203155173	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	19294730	203155173	40044200	59	3480										
NBEAL1	65065	genome.wustl.edu	37	chr2	204073911	204073911	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cggtgattatacataccattCagaaaggtcagtacatgagg	10	7	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:204073911C>T	ENST00000449802.1	+	52	7897	c.7564C>T	c.(7564-7566)Cag>Tag	p.Q2522*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2522										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATACCATTCAGAAAGGTCA	0.378																																																	0													131	120	123					2																	204073911		1879	4106	5985	SO:0001587	stop_gained	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7564C>T	2.37:g.204073911C>T	ENSP00000399903:p.Gln2522*		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2522*	ENST00000449802.1	37	c.7564	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	51	17.310020	0.99883	.	.	ENSG00000144426	ENST00000449802;ENST00000414576	.	.	.	5.26	4.37	0.52481	.	0.077636	0.52532	U	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.6519	0.68803	0.1469:0.8531:0.0:0.0	.	.	.	.	X	2522;537	.	ENSP00000388466:Q537X	Q	+	1	0	NBEAL1	203782156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.662000	0.54510	1.175000	0.42826	0.460000	0.39030	CAG	NBEAL1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204073911	1	no_errors	ENST00000449802	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	204073911	C	T	204073911	4	4	24	1	0	0	0	0	0	1	0	0	10211	827	29	1	7766	1	NBEAL1	2	204073911	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	918738	204073911	39125462	60	3481										
ZDBF2	57683	genome.wustl.edu	37	chr2	207171629	207171629	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atagttctgaaataacttttGattctgatattcctctttat	4	6	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:207171629G>C	ENST00000374423.3	+	5	2763	c.2377G>C	c.(2377-2379)Gat>Cat	p.D793H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	793							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATAACTTTTGATTCTGATAT	0.383																																																	0													110	112	111					2																	207171629		1887	4113	6000	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2377G>C	2.37:g.207171629G>C	ENSP00000363545:p.Asp793His		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.D793H	ENST00000374423.3	37	c.2377	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863984	0.51482	.	.	ENSG00000204186	ENST00000374423	T	0.57595	0.39	4.53	2.72	0.32119	.	0.852258	0.09780	N	0.756758	T	0.60353	0.2262	M	0.62723	1.935	0.27453	N	0.953383	D	0.60575	0.988	P	0.56163	0.793	T	0.50457	-0.8826	10	0.72032	D	0.01	.	5.5849	0.17269	0.0991:0.0:0.7057:0.1952	.	793	Q9HCK1	ZDBF2_HUMAN	H	793	ENSP00000363545:D793H	ENSP00000363545:D793H	D	+	1	0	ZDBF2	206879874	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	1.578000	0.36525	0.826000	0.34661	0.655000	0.94253	GAT	ZDBF2	-	NULL		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207171629	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.999	C	C	207171629	G	C	207171629	3	2	24	1	0	0	0	0	1	0	0	0	17629	1290	45	1	2387	1	ZDBF2	2	207171629	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3097718	207171629	36027744	61	3482										
ABCA12	26154	genome.wustl.edu	37	chr2	215819966	215819966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tggaaagaaagtataccactGacagggaaacaatggaatta	10	5	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:215819966G>A	ENST00000272895.7	-	43	6572	c.6353C>T	c.(6352-6354)tCa>tTa	p.S2118L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S1800L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2118					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTATACCACTGACAGGGAAAC	0.408																																					Ovarian(66;664 1488 5121 34295)												0													82	73	76					2																	215819966		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6353C>T	2.37:g.215819966G>A	ENSP00000272895:p.Ser2118Leu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2118L	ENST00000272895.7	37	c.6353	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531578	0.45073	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.80566	-1.39;-1.39	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000009	D	0.86343	0.5910	L	0.43757	1.38	0.80722	D	1	D;P	0.64830	0.994;0.537	D;B	0.64776	0.929;0.236	D	0.84648	0.0699	10	0.44086	T	0.13	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	2118;1800	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2118;1800	ENSP00000272895:S2118L;ENSP00000374312:S1800L	ENSP00000272895:S2118L	S	-	2	0	ABCA12	215528211	1.000000	0.71417	0.973000	0.42090	0.957000	0.61999	6.535000	0.73838	2.834000	0.97654	0.650000	0.86243	TCA	ABCA12	-	NULL		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215819966	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	A	A	215819966	G	A	215819966	3	1	24	1	0	0	0	0	1	0	0	0	30	1294	45	1	1478	1	ABCA12	2	215819966	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8648337	215819966	27379407	62	3483										
SMARCAL1	50485	genome.wustl.edu	37	chr2	217347643	217347643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcattgacagccagtccacaGaagaaaaggagatttgaatt	9	7	1	5			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:217347643G>C	ENST00000357276.4	+	18	3138	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	AC098820.4_ENST00000414135.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q936H|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	936					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCAGTCCACAGAAGAAAAGGA	0.418									Schimke Immuno-Osseous Dysplasia																																								0													100	111	107					2																	217347643		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2808G>C	2.37:g.217347643G>C	ENSP00000349823:p.Gln936His		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q936H	ENST00000357276.4	37	c.2808	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	G	6.334	0.429676	0.11987	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.85955	-2.03;-2.03;-2.05	4.34	-5.87	0.02297	.	1.392810	0.04514	N	0.383423	T	0.64549	0.2608	N	0.08118	0	0.09310	N	1	P	0.34724	0.465	B	0.31751	0.135	T	0.58601	-0.7608	10	0.46703	T	0.11	0.5699	2.5525	0.04752	0.3441:0.3918:0.1269:0.1372	.	936	Q9NZC9	SMAL1_HUMAN	H	936;936;778	ENSP00000349823:Q936H;ENSP00000350940:Q936H;ENSP00000375974:Q778H	ENSP00000349823:Q936H	Q	+	3	2	SMARCAL1	217055888	0.000000	0.05858	0.004000	0.12327	0.569000	0.35902	-1.291000	0.02775	-1.293000	0.02362	-0.253000	0.11424	CAG	SMARCAL1	-	NULL		0.418	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	G			217347643	1	no_errors	ENST00000357276	ensembl	human	known	70_37	missense	SNP	0.001	C	C	217347643	G	C	217347643	3	2	24	1	0	0	0	0	1	0	0	0	14803	933	33	1	2870	1	SMARCAL1	2	217347643	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1527677	217347643	25851730	63	3484										
STK16	8576	genome.wustl.edu	37	chr2	220112958	220112958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	catgatgtttggggaaggccCttatgacatggtgttccaaa	12	7	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:220112958C>T	ENST00000409638.3	+	7	873	c.701C>T	c.(700-702)cCt>cTt	p.P234L	GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.P234L|STK16_ENST00000409743.1_Missense_Mutation_p.P202L|TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000409516.3_Missense_Mutation_p.P116L|STK16_ENST00000409260.1_Missense_Mutation_p.P279L|GLB1L_ENST00000356283.3_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAAGGCCCTTATGACATG	0.532																																					Pancreas(34;887 922 17165 36961 39622)												0													188	173	178					2																	220112958		2066	4216	6282	SO:0001583	missense	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.701C>T	2.37:g.220112958C>T	ENSP00000386928:p.Pro234Leu		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	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.P234L	ENST00000409638.3	37	c.701	CCDS42822.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590950	0.86851	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	T;T;T;T;T	0.80393	1.59;1.59;-1.37;-1.37;1.59	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93859	0.7152	10	0.87932	D	0	-10.1838	18.7502	0.91810	0.0:1.0:0.0:0.0	.	116;279;234	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	L	234;234;116;279;202	ENSP00000386928:P234L;ENSP00000379964:P234L;ENSP00000386309:P116L;ENSP00000387156:P279L;ENSP00000386553:P202L	ENSP00000379964:P234L	P	+	2	0	STK16	219821202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.617000	0.83032	2.664000	0.90586	0.655000	0.94253	CCT	STK16	-	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		0.532	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK16	HGNC	protein_coding	OTTHUMT00000335679.1	C			220112958	1	no_errors	ENST00000396738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220112958	C	T	220112958	3	4	24	1	0	0	0	0	1	0	0	0	15319	681	24	4	723	4	STK16	2	220112958	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2765315	220112958	23086415	64	3485										
DOCK10	55619	genome.wustl.edu	37	chr2	225729288	225729288	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	accttgttggagtctgggttCttaatataaggttcggcacc	11	8	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:225729288C>G	ENST00000258390.7	-	13	1651	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	DOCK10_ENST00000409592.3_Missense_Mutation_p.K522N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	528					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCTGGGTTCTTAATATAAG	0.373																																																	0													68	62	64					2																	225729288		1820	4085	5905	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1584G>C	2.37:g.225729288C>G	ENSP00000258390:p.Lys528Asn		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K528N	ENST00000258390.7	37	c.1584	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661410	0.67700	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.52983	0.64;0.64	5.74	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.87547	2.89	0.44000	D	0.996707	D;D;D	0.65815	0.974;0.995;0.983	P;D;P	0.64687	0.701;0.928;0.791	T	0.73148	-0.4074	10	0.87932	D	0	.	11.2609	0.49083	0.0:0.7871:0.0:0.2128	.	528;528;522	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	N	522;528	ENSP00000386694:K522N;ENSP00000258390:K528N	ENSP00000258390:K528N	K	-	3	2	DOCK10	225437532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.530000	0.36007	0.870000	0.35726	0.650000	0.86243	AAG	DOCK10	-	NULL		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225729288	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	225729288	C	G	225729288	3	3	24	1	0	0	0	0	1	0	0	0	4695	912	32	1	5152	1	DOCK10	2	225729288	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5616330	225729288	17470085	65	3486										
SPHKAP	80309	genome.wustl.edu	37	chr2	228860227	228860227	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caagggaagagcaggtacctCatggatcgctcactgagctg	13	10	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr2:228860227C>A	ENST00000392056.3	-	8	4678	c.4632G>T	c.(4630-4632)atG>atT	p.M1544I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M1544I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1544						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGGTACCTCATGGATCGCT	0.488																																																	0													224	196	206					2																	228860227		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4632G>T	2.37:g.228860227C>A	ENSP00000375909:p.Met1544Ile		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.M1544I	ENST00000392056.3	37	c.4632	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875609	0.51695	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12147	2.71;2.79	6.06	6.06	0.98353	.	0.376078	0.32273	N	0.006340	T	0.19327	0.0464	M	0.70595	2.14	0.45239	D	0.998241	B;P	0.34615	0.172;0.459	B;B	0.32533	0.035;0.147	T	0.04811	-1.0925	10	0.15499	T	0.54	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	1544;1544	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1544	ENSP00000375909:M1544I;ENSP00000339886:M1544I	ENSP00000339886:M1544I	M	-	3	0	SPHKAP	228568471	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.721000	0.47260	2.882000	0.98803	0.655000	0.94253	ATG	SPHKAP	-	NULL		0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228860227	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228860227	C	A	228860227	3	1	24	1	0	0	0	0	1	0	0	0	15078	826	29	3	490	3	SPHKAP	2	228860227	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3130939	228860227	14339146	66	3487										
LRRN1	57633	genome.wustl.edu	37	chr3	3886968	3886968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atatgaacttcaaacccctcGcaaatttgagaagcttagtt	6	9	1	2	rs547803135		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:3886968G>A	ENST00000319331.3	+	2	1404	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	215						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAAACCCCTCGCAAATTTGAG	0.418																																																	0													130	139	136					3																	3886968		2203	4300	6503	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.643G>A	3.37:g.3886968G>A	ENSP00000314901:p.Ala215Thr		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A215T	ENST00000319331.3	37	c.643	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939127	0.02322	.	.	ENSG00000175928	ENST00000319331	T	0.22134	1.97	5.57	1.82	0.25136	.	0.649340	0.15882	N	0.240007	T	0.08223	0.0205	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.11794	T	0.64	.	8.7243	0.34460	0.1199:0.0:0.4008:0.4793	.	215	Q6UXK5	LRRN1_HUMAN	T	215	ENSP00000314901:A215T	ENSP00000314901:A215T	A	+	1	0	LRRN1	3861968	0.051000	0.20477	0.005000	0.12908	0.189000	0.23516	1.456000	0.35201	0.062000	0.16340	-1.083000	0.02208	GCA	LRRN1	-	smart_Leu-rich_rpt_typical-subtyp		0.418	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	G	NM_020873		3886968	1	no_errors	ENST00000319331	ensembl	human	known	70_37	missense	SNP	0.001	A	A	3886968	G	A	3886968	3	1	24	1	0	0	0	0	1	0	0	0	9057	1087	38	2	645	2	LRRN1	3	3886968	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		3886968	194135462	67	3488										
SCN5A	6331	genome.wustl.edu	37	chr3	38674567	38674567	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtccaggtcctccaggggctCtccgatgagctcttggggtg	15	12	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:38674567C>T	ENST00000333535.4	-	2	381	c.232G>A	c.(232-234)Gag>Aag	p.E78K	SCN5A_ENST00000449557.2_Missense_Mutation_p.E78K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E78K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E78K|SCN5A_ENST00000413689.1_Missense_Mutation_p.E78K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E78K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E78K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E78K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E78K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E78K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	78					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCAGGGGCTCTCCGATGAGC	0.617																																																	0													44	46	46					3																	38674567		1919	4152	6071	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.232G>A	3.37:g.38674567C>T	ENSP00000328968:p.Glu78Lys		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.E78K	ENST00000333535.4	37	c.232	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197850	0.22037	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96104	-3.81;-3.84;-3.84;-3.85;-3.84;-3.81;-3.84;-3.91;-3.85;-3.84	4.73	3.84	0.44239	.	0.245199	0.41823	D	0.000807	D	0.94238	0.8150	L	0.35854	1.095	0.37122	D	0.900855	B;P;B;P;D;P	0.56035	0.308;0.671;0.442;0.886;0.974;0.93	B;B;B;B;P;P	0.54924	0.134;0.187;0.134;0.396;0.764;0.6	D	0.94813	0.7980	10	0.66056	D	0.02	.	10.0535	0.42230	0.1556:0.6945:0.1499:0.0	.	78;78;78;78;78;78	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	K	78	ENSP00000398962:E78K;ENSP00000398266:E78K;ENSP00000410257:E78K;ENSP00000388797:E78K;ENSP00000397915:E78K;ENSP00000416634:E78K;ENSP00000328968:E78K;ENSP00000399524:E78K;ENSP00000403355:E78K;ENSP00000413996:E78K	ENSP00000328968:E78K	E	-	1	0	SCN5A	38649571	0.996000	0.38824	1.000000	0.80357	0.976000	0.68499	3.057000	0.49931	1.176000	0.42840	0.491000	0.48974	GAG	SCN5A	-	NULL		0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38674567	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38674567	C	T	38674567	3	4	24	1	0	0	0	0	1	0	0	0	13952	922	32	1	6022	1	SCN5A	3	38674567	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	34787599	38674567	159347863	68	3489										
ZNF660	285349	genome.wustl.edu	37	chr3	44636220	44636220	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gccgtagttcaaaccttactCaacatcagcgaatgcacaga	7	12	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:44636220C>G	ENST00000322734.2	+	3	868	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAACCTTACTCAACATCAGCG	0.413																																																	0													89	95	93					3																	44636220		2203	4300	6503	SO:0001583	missense	285349			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.535C>G	3.37:g.44636220C>G	ENSP00000324605:p.Gln179Glu		Q7Z331|Q8N9M8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q179E	ENST00000322734.2	37	c.535	CCDS2716.1	3	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063197	0.19987	.	.	ENSG00000144792	ENST00000322734	T	0.16324	2.35	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.04260	-0.245	0.80722	D	1	P	0.43826	0.818	B	0.38156	0.266	T	0.37709	-0.9694	8	.	.	.	.	11.6431	0.51244	0.1784:0.8216:0.0:0.0	.	179	Q6AZW8	ZN660_HUMAN	E	179	ENSP00000324605:Q179E	.	Q	+	1	0	ZNF660	44611224	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.153000	0.10144	2.319000	0.78375	0.650000	0.86243	CAA	ZNF660	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF660	HGNC	protein_coding	OTTHUMT00000256756.4	C	NM_173658		44636220	1	no_errors	ENST00000322734	ensembl	human	known	70_37	missense	SNP	0.880	G	G	44636220	C	G	44636220	3	3	24	1	0	0	0	0	1	0	0	0	18100	827	29	1	537	1	ZNF660	3	44636220	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5961653	44636220	153386210	69	3490										
ITIH1	3697	genome.wustl.edu	37	chr3	52825552	52825552	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggcaatttttccaccccatCggttttgaagtgtctgacat	9	10	1	2	rs143276781	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:52825552C>T	ENST00000273283.2	+	21	2538	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ITIH1_ENST00000537050.1_Silent_p.I550I|ITIH1_ENST00000540715.1_Silent_p.I696I|ITIH1_ENST00000405128.3_Silent_p.I204I|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	838	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I838I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCACCCCATCGGTTTTGAAG	0.597																																																	1	Substitution - coding silent(1)	NS(1)						C	,,,	1,4405	2.1+/-5.4	0,1,2202	87	83	84		2088,1650,1650,2514	-3.4	0.1	3	dbSNP_134	84	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	696/770,550/624,550/624,838/912	52825552	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2514C>T	3.37:g.52825552C>T			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I838	ENST00000273283.2	37	c.2514	CCDS2864.1	3																																																																																			ITIH1	-	pfam_ITI_HC_C		0.597	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	C	NM_002215		52825552	1	no_errors	ENST00000273283	ensembl	human	known	70_37	silent	SNP	0.538	T	T	52825552	C	T	52825552	2	4	24	1	0	0	0	0	0	0	0	1	7923	874	31	1		1	ITIH1	3	52825552	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	8189332	52825552	145196878	70	3491										
DCP1A	55802	genome.wustl.edu	37	chr3	53346369	53346369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctgggactctgtttgtcccGagcagcttgctgggatcgcc	14	12	1	0	rs115623412	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:53346369G>A	ENST00000607628.1	-	5	521	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	DCP1A_ENST00000294241.6_Missense_Mutation_p.R138W|DCP1A_ENST00000606822.1_Missense_Mutation_p.R138W|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	138					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TGTTTGTCCCGAGCAGCTTGC	0.527													G|||	2	0.000399361	0.0015	0	5008	,	,		12511	0		0	False		,,,				2504	0																0								G	TRP/ARG	1,3967		0,1,1983	52	54	54		412	2.6	1	3	dbSNP_132	54	0,8314		0,0,4157	no	missense	DCP1A	NM_018403.5	101	0,1,6140	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging	138/585	53346369	1,12281	1984	4157	6141	SO:0001583	missense	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.412C>T	3.37:g.53346369G>A	ENSP00000475920:p.Arg138Trp		B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000607628.1	37	NULL		3																																																																																			DCP1A	-	-		0.527	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding		G	NM_018403		53346369	-1	no_errors	ENST00000294241	ensembl	human	known	70_37	rna	SNP	0.811	A	A	53346369	G	A	53346369	3	1	24	1	0	0	0	0	1	0	0	0	4303	1057	37	1	1360	1	DCP1A	3	53346369	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	520817	53346369	144676061	71	3492										
ARHGEF3	50650	genome.wustl.edu	37	chr3	56766438	56766438	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acaagcacttcttggaacagGaaaacatgcagtttctagaa	8	8	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:56766438G>A	ENST00000296315.3	-	9	1224	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	ARHGEF3_ENST00000338458.4_Silent_p.F384F|ARHGEF3_ENST00000496106.1_Silent_p.F358F|ARHGEF3_ENST00000495373.1_Silent_p.F352F|ARHGEF3_ENST00000497267.1_Silent_p.F323F|ARHGEF3_ENST00000413728.2_Silent_p.F358F	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	352	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTTGGAACAGGAAAACATGCA	0.463																																																	0													98	101	100					3																	56766438		2203	4300	6503	SO:0001819	synonymous_variant	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1056C>T	3.37:g.56766438G>A			A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F384	ENST00000296315.3	37	c.1152	CCDS2878.1	3																																																																																			ARHGEF3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	G	NM_019555		56766438	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56766438	G	A	56766438	2	1	24	1	0	0	0	0	0	0	0	1	904	1165	41	1		1	ARHGEF3	3	56766438	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3420069	56766438	141255992	72	3493										
ACOX2	8309	genome.wustl.edu	37	chr3	58516240	58516240	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgaccgagtagcgcatggcGatgacacaggccttctgcag	13	11	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:58516240G>A	ENST00000302819.5	-	8	1236	c.945C>T	c.(943-945)atC>atT	p.I315I	ACOX2_ENST00000459701.2_Silent_p.I301I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	315					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AGCGCATGGCGATGACACAGG	0.617																																																	0													173	141	152					3																	58516240		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.945C>T	3.37:g.58516240G>A			A6NF16|B2R8U5	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.I315	ENST00000302819.5	37	c.945	CCDS33775.1	3																																																																																			ACOX2	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.617	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	G			58516240	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	silent	SNP	0.998	A	A	58516240	G	A	58516240	2	1	24	1	0	0	0	0	0	0	0	1	159	1048	37	1		1	ACOX2	3	58516240	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1749802	58516240	139506190	73	3494										
C3orf14	57415	genome.wustl.edu	37	chr3	62317015	62317015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tacaggatatagaagcagcaGaaaagtcactacagaccagg	10	8	1	3	rs567089108		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:62317015G>A	ENST00000494481.1	+	5	507	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.E65K|C3orf14_ENST00000542214.1_Missense_Mutation_p.E65K|C3orf14_ENST00000462069.1_Missense_Mutation_p.E65K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	65										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		AGAAGCAGCAGAAAAGTCACT	0.398													G|||	1	0.000199681	0	0	5008	,	,		17109	0		0	False		,,,				2504	0.001																0													119	116	117					3																	62317015		2203	4300	6503	SO:0001583	missense	57415			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.193G>A	3.37:g.62317015G>A	ENSP00000418086:p.Glu65Lys		B2R9U0	Missense_Mutation	SNP	NULL	p.E65K	ENST00000494481.1	37	c.193	CCDS2896.1	3	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633286	0.67015	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	5.25	0.73442	.	0.191467	0.42420	D	0.000703	T	0.53481	0.1799	L	0.55834	1.745	0.35970	D	0.835279	P	0.36683	0.565	B	0.37888	0.26	T	0.61671	-0.7015	9	0.38643	T	0.18	-16.8614	12.9359	0.58313	0.0746:0.0:0.9254:0.0	.	65	Q9HBI5	CC014_HUMAN	K	65	.	ENSP00000232519:E65K	E	+	1	0	C3orf14	62292055	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	3.927000	0.56499	2.932000	0.99384	0.644000	0.83932	GAA	C3orf14	-	NULL		0.398	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf14	HGNC	protein_coding	OTTHUMT00000351807.1	G	NM_020685		62317015	1	no_errors	ENST00000232519	ensembl	human	known	70_37	missense	SNP	0.997	A	A	62317015	G	A	62317015	3	1	24	1	0	0	0	0	1	0	0	0	2213	943	33	1	203	1	C3orf14	3	62317015	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3800775	62317015	135705415	74	3495										
CHMP2B	25978	genome.wustl.edu	37	chr3	87302861	87302861	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctttttcattgtttaatataGatggccaaagctccatcagc	6	9	2	1	rs63750652		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:87302861G>C	ENST00000263780.4	+	6	769		c.e6-1		CHMP2B_ENST00000494980.1_Splice_Site|CHMP2B_ENST00000471660.1_Splice_Site	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B						cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTTTAATATAGATGGCCAAAG	0.398																																																	0			GRCh37	CS052951	CHMP2B	S	rs63750652						97	90	92					3																	87302861		2203	4300	6503	SO:0001630	splice_region_variant	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.532-1G>C	3.37:g.87302861G>C			B4DJG8|Q53HC7|Q9Y4U6	Splice_Site	SNP	-	e6-1	ENST00000263780.4	37	c.532-1	CCDS2918.1	3	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601653	0.66445	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9486	0.97190	0.0:0.0:1.0:0.0	rs63750652	.	.	.	.	-1	.	.	.	+	.	.	CHMP2B	87385551	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.744000	0.91596	2.722000	0.93159	0.585000	0.79938	.	CHMP2B	-	-		0.398	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP2B	HGNC	protein_coding	OTTHUMT00000352779.2	G	NM_014043	Intron	87302861	1	no_errors	ENST00000263780	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	87302861	G	C	87302861	5	2	24	1	0	0	0	0	0	0	1	0	3360	956	33	1	553	1	CHMP2B	3	87302861	Splice_Site	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	24985846	87302861	110719569	75	3496										
CHMP2B	25978	genome.wustl.edu	37	chr3	87302931	87302931	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caaaggctacaatctcagatGaagagattgaacggcaactc	9	9	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:87302931G>A	ENST00000263780.4	+	6	839	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CHMP2B_ENST00000494980.1_Missense_Mutation_p.E171K|CHMP2B_ENST00000471660.1_Missense_Mutation_p.E160K	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	201				E -> V (in Ref. 2; CAB45721 and 3; CAG38487). {ECO:0000305}.	cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCTCAGATGAAGAGATTGA	0.378																																																	0													100	99	99					3																	87302931		2203	4300	6503	SO:0001583	missense	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.601G>A	3.37:g.87302931G>A	ENSP00000263780:p.Glu201Lys		B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	pfam_Snf7	p.E201K	ENST00000263780.4	37	c.601	CCDS2918.1	3	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520661	0.64747	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	D;D;D	0.89552	-2.17;-2.53;-2.49	5.85	5.85	0.93711	.	0.044306	0.85682	D	0.000000	D	0.84183	0.5416	L	0.37697	1.125	0.58432	D	0.999999	B;B	0.31318	0.22;0.319	B;B	0.24701	0.039;0.055	T	0.80188	-0.1486	10	0.21014	T	0.42	-7.3954	20.1559	0.98114	0.0:0.0:1.0:0.0	.	160;201	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	K	160;201;171	ENSP00000419998:E160K;ENSP00000263780:E201K;ENSP00000418920:E171K	ENSP00000263780:E201K	E	+	1	0	CHMP2B	87385621	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.747000	0.91610	2.770000	0.95276	0.650000	0.86243	GAA	CHMP2B	-	NULL		0.378	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP2B	HGNC	protein_coding	OTTHUMT00000352779.2	G	NM_014043		87302931	1	no_errors	ENST00000263780	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87302931	G	A	87302931	3	1	24	1	0	0	0	0	1	0	0	0	3360	1291	45	1	623	1	CHMP2B	3	87302931	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	70	87302931	110719499	76	3497										
OR5H1	26341	genome.wustl.edu	37	chr3	97851984	97851984	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	catccggctattaatcttgtCatatgtaggtggtattcttc	8	8	3	0	rs375835310		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:97851984C>T	ENST00000354565.2	+	1	443	c.443C>T	c.(442-444)tCa>tTa	p.S148L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	148			S -> T (in dbSNP:rs5009896).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTAATCTTGTCATATGTAGGT	0.383																																																	0													60	72	68					3																	97851984		2184	4281	6465	SO:0001583	missense	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.443C>T	3.37:g.97851984C>T	ENSP00000346575:p.Ser148Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S148L	ENST00000354565.2	37	c.443	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	C	7.196	0.592503	0.13875	.	.	ENSG00000231192	ENST00000354565	T	0.37752	1.18	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	N	0.001495	T	0.44329	0.1288	M	0.81614	2.55	0.09310	N	1	B	0.23806	0.091	B	0.32022	0.139	T	0.48570	-0.9024	10	0.59425	D	0.04	.	12.6623	0.56822	0.0:1.0:0.0:0.0	.	148	A6NKK0	OR5H1_HUMAN	L	148	ENSP00000346575:S148L	ENSP00000346575:S148L	S	+	2	0	OR5H1	99334674	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.609000	0.24238	1.818000	0.53035	0.195000	0.17529	TCA	OR5H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.383	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	C	NM_001005338		97851984	1	no_errors	ENST00000354565	ensembl	human	known	70_37	missense	SNP	0.092	T	T	97851984	C	T	97851984	3	4	24	1	0	0	0	0	1	0	0	0	11183	838	29	1	445	1	OR5H1	3	97851984	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	10549053	97851984	100170446	77	3498										
KIAA1524	57650	genome.wustl.edu	37	chr3	108278654	108278654	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgctgagcaatcagtctatCagcctgtgcaagggctagag	12	9	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:108278654C>T	ENST00000295746.8	-	16	2039	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	KIAA1524_ENST00000487834.1_5'Flank|KIAA1524_ENST00000491772.1_Missense_Mutation_p.D496N	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	655					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCAGTCTATCAGCCTGTGCA	0.353																																																	0													66	65	65					3																	108278654		2203	4300	6503	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1963G>A	3.37:g.108278654C>T	ENSP00000295746:p.Asp655Asn		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D655N	ENST00000295746.8	37	c.1963	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857310	0.91433	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.39406	1.08;1.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64402	-0.6416	10	0.59425	D	0.04	-20.4666	20.5568	0.99304	0.0:1.0:0.0:0.0	.	655	Q8TCG1	CIP2A_HUMAN	N	496;655	ENSP00000419487:D496N;ENSP00000295746:D655N	ENSP00000295746:D655N	D	-	1	0	KIAA1524	109761344	1.000000	0.71417	0.992000	0.48379	0.747000	0.42532	7.125000	0.77193	2.861000	0.98227	0.655000	0.94253	GAT	KIAA1524	-	NULL		0.353	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	C	NM_020890		108278654	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108278654	C	T	108278654	3	4	24	1	0	0	0	0	1	0	0	0	8259	826	29	1	778	1	KIAA1524	3	108278654	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	10426670	108278654	89743776	78	3499										
KIAA1407	57577	genome.wustl.edu	37	chr3	113724430	113724430	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggctctgtgcttctgtgactGctaaggcatgctctgctgcc	12	12	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:113724430G>C	ENST00000295878.3	-	10	1939	c.1793C>G	c.(1792-1794)gCa>gGa	p.A598G	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A429G	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	598										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTGTGACTGCTAAGGCATG	0.493																																																	0													128	127	127					3																	113724430		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1793C>G	3.37:g.113724430G>C	ENSP00000295878:p.Ala598Gly		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.A598G	ENST00000295878.3	37	c.1793	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707774	0.30322	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.52526	1.38;0.76;0.66	5.14	2.4	0.29515	.	0.442525	0.25549	N	0.029915	T	0.50769	0.1635	L	0.43152	1.355	0.09310	N	1	D;B;D	0.67145	0.996;0.037;0.996	P;B;P	0.58130	0.833;0.039;0.833	T	0.39313	-0.9620	10	0.44086	T	0.13	.	9.5313	0.39196	0.2343:0.0:0.7657:0.0	.	585;474;598	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	G	598;429;585	ENSP00000295878:A598G;ENSP00000446381:A429G;ENSP00000418099:A585G	ENSP00000295878:A598G	A	-	2	0	KIAA1407	115207120	0.194000	0.23325	0.001000	0.08648	0.038000	0.13279	2.013000	0.40942	0.343000	0.23821	0.655000	0.94253	GCA	KIAA1407	-	NULL		0.493	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	G	NM_020817		113724430	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	0.008	C	C	113724430	G	C	113724430	3	2	24	1	0	0	0	0	1	0	0	0	8249	1319	46	4	1049	4	KIAA1407	3	113724430	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5445776	113724430	84298000	79	3500										
SLC12A8	84561	genome.wustl.edu	37	chr3	124837625	124837625	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcactcaccttttccgctatCaggaagtcatagcgaagggc	9	12	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:124837625C>G	ENST00000393469.4	-	7	949	c.900G>C	c.(898-900)ctG>ctC	p.L300L	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.L300L|SLC12A8_ENST00000423114.2_Silent_p.L329L|SLC12A8_ENST00000430155.2_Silent_p.L101L|RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000314584.7_Silent_p.L53L	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	300					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TTTCCGCTATCAGGAAGTCAT	0.532																																																	0													50	56	54					3																	124837625		2069	4220	6289	SO:0001819	synonymous_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.900G>C	3.37:g.124837625C>G			C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.L329	ENST00000393469.4	37	c.987	CCDS43143.1	3																																																																																			SLC12A8	-	pfam_AA-permease_dom		0.532	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	C	NM_024628		124837625	-1	no_errors	ENST00000423114	ensembl	human	known	70_37	silent	SNP	1.000	G	G	124837625	C	G	124837625	2	3	24	1	0	0	0	0	0	0	0	1	14419	813	29	1		1	SLC12A8	3	124837625	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	11113195	124837625	73184805	80	3501										
CCDC37	348807	genome.wustl.edu	37	chr3	126139026	126139026	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgtcttacctgagcagccccCagcaaggcagccagcccagc	10	18	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:126139026C>T	ENST00000352312.1	+	11	1135	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.Q347*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.Q347*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	346										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGCAGCCCCCAGCAAGGCAG	0.657																																																	0													22	25	24					3																	126139026		2201	4300	6501	SO:0001587	stop_gained	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1036C>T	3.37:g.126139026C>T	ENSP00000344749:p.Gln346*		D3DNA8|Q494V1|Q494V4|Q8N838	Nonsense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.Q347*	ENST00000352312.1	37	c.1039	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437002	0.62955	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	2.95	2.95	0.34219	.	3.089590	0.00772	N	0.001218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-9.1846	9.5899	0.39539	0.0:1.0:0.0:0.0	.	.	.	.	X	346;347;347	.	ENSP00000344749:Q346X	Q	+	1	0	CCDC37	127621716	0.033000	0.19621	0.013000	0.15412	0.008000	0.06430	2.584000	0.46102	1.972000	0.57404	0.491000	0.48974	CAG	CCDC37	-	NULL		0.657	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	C	NM_182628		126139026	1	no_errors	ENST00000393425	ensembl	human	known	70_37	nonsense	SNP	0.013	T	T	126139026	C	T	126139026	4	4	24	1	0	0	0	0	0	1	0	0	2814	595	21	4	1074	4	CCDC37	3	126139026	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1301401	126139026	71883404	81	3502										
KBTBD12	166348	genome.wustl.edu	37	chr3	127642675	127642675	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caaaatgcattcaaagccatCaagacaccccaacagcactc	4	15	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:127642675C>T	ENST00000405109.1	+	2	1238	c.771C>T	c.(769-771)atC>atT	p.I257I	KBTBD12_ENST00000405256.1_Silent_p.I257I|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	257										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCAAAGCCATCAAGACACCCC	0.403																																																	0													165	157	160					3																	127642675		1971	4159	6130	SO:0001819	synonymous_variant	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.771C>T	3.37:g.127642675C>T			B5MCC6|Q6ZRK1	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I257	ENST00000405109.1	37	c.771	CCDS33848.2	3																																																																																			KBTBD12	-	pirsf_Kelch-like_gigaxonin		0.403	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	C	NM_207335		127642675	1	no_errors	ENST00000405109	ensembl	human	known	70_37	silent	SNP	1.000	T	T	127642675	C	T	127642675	2	4	24	1	0	0	0	0	0	0	0	1	8011	816	29	1		1	KBTBD12	3	127642675	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1503649	127642675	70379755	82	3503										
DNAJC13	23317	genome.wustl.edu	37	chr3	132184866	132184866	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agtagacatttagtgggactCtggacagctgataatgcaac	11	7	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:132184866C>T	ENST00000260818.6	+	18	2168	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	640					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTGGGACTCTGGACAGCTG	0.348																																																	0													76	74	75					3																	132184866		2203	4300	6503	SO:0001819	synonymous_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1920C>T	3.37:g.132184866C>T			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.L640	ENST00000260818.6	37	c.1920	CCDS33857.1	3																																																																																			DNAJC13	-	superfamily_ARM-type_fold		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	C	NM_015268		132184866	1	no_errors	ENST00000260818	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132184866	C	T	132184866	2	4	24	1	0	0	0	0	0	0	0	1	4642	900	32	1		1	DNAJC13	3	132184866	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4542191	132184866	65837564	83	3504										
C3orf36	80111	genome.wustl.edu	37	chr3	133647582	133647582	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccaggagccgggactaggctGagcccactactcacagcctg	12	15	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:133647582G>A	ENST00000408895.2	-	1	1074	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	22										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGACTAGGCTGAGCCCACTAC	0.632																																																	0													45	48	47					3																	133647582		2202	4299	6501	SO:0001819	synonymous_variant	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.66C>T	3.37:g.133647582G>A			Q3SXR3|Q9H6K8	Silent	SNP	NULL	p.L22	ENST00000408895.2	37	c.66	CCDS3083.1	3																																																																																			C3orf36	-	NULL		0.632	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf36	HGNC	protein_coding		G	NM_025041		133647582	-1	no_errors	ENST00000408895	ensembl	human	known	70_37	silent	SNP	0.001	A	A	133647582	G	A	133647582	2	1	24	1	0	0	0	0	0	0	0	1	2231	1277	45	1		1	C3orf36	3	133647582	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1462716	133647582	64374848	84	3505										
CLDN18	51208	genome.wustl.edu	37	chr3	137717751	137717751	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggcttggggttcgtggtttCactgattgggattgcgggca	18	6	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:137717751C>T	ENST00000343735.4	+	1	175	c.41C>T	c.(40-42)tCa>tTa	p.S14L		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	14					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCGTGGTTTCACTGATTGGG	0.552																																																	0													133	108	116					3																	137717751		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.41C>T	3.37:g.137717751C>T	ENSP00000340939:p.Ser14Leu		A5PL21|Q96PH4	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.S14L	ENST00000343735.4	37	c.41	CCDS33862.1	3	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085013	0.55861	.	.	ENSG00000066405	ENST00000343735	D	0.88046	-2.33	4.48	4.48	0.54585	.	0.260319	0.32273	N	0.006332	D	0.86669	0.5988	.	.	.	0.80722	D	1	P	0.41232	0.743	B	0.41299	0.353	D	0.89093	0.3484	9	0.87932	D	0	.	17.7098	0.88318	0.0:1.0:0.0:0.0	.	14	P56856-2	.	L	14	ENSP00000340939:S14L	ENSP00000340939:S14L	S	+	2	0	CLDN18	139200441	0.983000	0.35010	0.328000	0.25416	0.631000	0.37964	4.741000	0.62095	2.474000	0.83562	0.563000	0.77884	TCA	CLDN18	-	pfam_PMP22/EMP/MP20/Claudin		0.552	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357198.2	C	NM_001002026		137717751	1	no_errors	ENST00000343735	ensembl	human	known	70_37	missense	SNP	0.252	T	T	137717751	C	T	137717751	3	4	24	1	0	0	0	0	1	0	0	0	3484	838	29	1	43	1	CLDN18	3	137717751	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4070169	137717751	60304679	85	3506										
GK5	256356	genome.wustl.edu	37	chr3	141917646	141917646	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cacacagtattttcttacctCagtcaagttctgtaaaatcc	4	11	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:141917646C>A	ENST00000392993.2	-	5	692	c.541G>T	c.(541-543)Gag>Tag	p.E181*	GK5_ENST00000544571.1_Nonsense_Mutation_p.E181*	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	181					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCTTACCTCAGTCAAGTTC	0.338																																																	0													101	99	100					3																	141917646		2203	4300	6503	SO:0001587	stop_gained	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.541G>T	3.37:g.141917646C>A	ENSP00000418001:p.Glu181*		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.E181*	ENST00000392993.2	37	c.541	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339190	0.41398	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	.	.	.	5.33	5.33	0.75918	.	0.052357	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.6508	13.9223	0.63940	0.0:0.8472:0.1527:0.0	.	.	.	.	X	181	.	ENSP00000418001:E181X	E	-	1	0	GK5	143400336	0.987000	0.35691	0.961000	0.40146	0.120000	0.20174	2.906000	0.48735	2.680000	0.91292	0.644000	0.83932	GAG	GK5	-	pfam_Carb_kinase_FGGY_N		0.338	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141917646	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	nonsense	SNP	0.974	A	A	141917646	C	A	141917646	4	1	24	1	0	0	0	0	0	1	0	0	6441	835	29	3	1096	3	GK5	3	141917646	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4199895	141917646	56104784	86	3507										
RAP2B	5912	genome.wustl.edu	37	chr3	152880788	152880788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgcgggaccagatcatccgCgtgaagcggtacgagcgcgt	15	11	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:152880788C>T	ENST00000323534.2	+	1	760	c.306C>T	c.(304-306)cgC>cgT	p.R102R	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	102					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGATCATCCGCGTGAAGCGGT	0.622																																																	0													97	84	88					3																	152880788		2203	4300	6503	SO:0001819	synonymous_variant	5912				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.306C>T	3.37:g.152880788C>T			P17964|Q96EG5|Q9CXG0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R102	ENST00000323534.2	37	c.306	CCDS3170.1	3																																																																																			RAP2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.622	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2B	HGNC	protein_coding	OTTHUMT00000356707.1	C	NM_002886		152880788	1	no_errors	ENST00000323534	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152880788	C	T	152880788	2	4	24	1	0	0	0	0	0	0	0	1	13071	755	27	2		2	RAP2B	3	152880788	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	10963142	152880788	45141642	87	3508										
SLC33A1	9197	genome.wustl.edu	37	chr3	155551785	155551785	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttctttgggtactccctcttCtaccaatttcagtcctgtta	5	12	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:155551785C>T	ENST00000392845.3	-	3	1389	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E337K			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	337					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTCCCTCTTCTACCAATTTC	0.368																																																	0													90	89	89					3																	155551785		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1009G>A	3.37:g.155551785C>T	ENSP00000376587:p.Glu337Lys		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.E337K	ENST00000392845.3	37	c.1009	CCDS3173.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.659751|5.659751	0.96734|0.96734	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479|ENST00000475842	T;T|.	0.80994|.	-1.44;-1.44|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Major facilitator superfamily domain, general substrate transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82572|0.82572	0.5066|0.5066	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.55615|.	0.78|.	T|T	0.81514|0.81514	-0.0898|-0.0898	10|5	0.59425|.	D|.	0.04|.	-28.5294|-28.5294	20.6396|20.6396	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337|.	O00400|.	ACATN_HUMAN|.	K|K	337|56	ENSP00000376587:E337K;ENSP00000352456:E337K|.	ENSP00000352456:E337K|.	E|R	-|-	1|2	0|0	SLC33A1|SLC33A1	157034479|157034479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.711000|7.711000	0.84669|0.84669	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	GAA|AGA	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1		0.368	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	C	NM_004733		155551785	-1	no_errors	ENST00000359479	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155551785	C	T	155551785	3	4	24	1	0	0	0	0	1	0	0	0	14596	922	32	1	656	1	SLC33A1	3	155551785	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2670997	155551785	42470645	88	3509										
SMC4	10051	genome.wustl.edu	37	chr3	160149569	160149569	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttttggaagcccggtgtcatGaaatgaaaccaaacctcggt	10	9	1	2	rs137888861		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:160149569G>A	ENST00000357388.3	+	21	3704	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	SMC4_ENST00000462787.1_Missense_Mutation_p.E1027K|SMC4_ENST00000469762.1_Missense_Mutation_p.E1060K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E1085K|SMC4_ENST00000360111.2_Missense_Mutation_p.E1027K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1085					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCGGTGTCATGAAATGAAACC	0.388																																																	0													68	75	73					3																	160149569		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3253G>A	3.37:g.160149569G>A	ENSP00000349961:p.Glu1085Lys		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.E1085K	ENST00000357388.3	37	c.3253	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657600	0.47467	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78364	-0.74;-1.17;-0.75;-1.17;-0.74	6.06	6.06	0.98353	RecF/RecN/SMC (1);	0.181941	0.64402	D	0.000013	T	0.66509	0.2796	N	0.17564	0.495	0.51482	D	0.999923	B;B;B;B	0.28128	0.019;0.004;0.201;0.024	B;B;B;B	0.31946	0.028;0.026;0.138;0.009	T	0.61332	-0.7084	10	0.18276	T	0.48	-23.345	17.4951	0.87715	0.0:0.1237:0.8763:0.0	.	1027;1060;1060;1085	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	K	1085;1027;1060;1027;1085;679	ENSP00000349961:E1085K;ENSP00000353225:E1027K;ENSP00000417964:E1060K;ENSP00000420734:E1027K;ENSP00000341382:E1085K	ENSP00000341382:E1085K	E	+	1	0	SMC4	161632263	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.939000	0.56591	2.876000	0.98609	0.655000	0.94253	GAA	SMC4	-	pfam_RecF/RecN/SMC		0.388	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160149569	1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160149569	G	A	160149569	3	1	24	1	0	0	0	0	1	0	0	0	14815	1291	45	1	3331	1	SMC4	3	160149569	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	4597784	160149569	37872861	89	3510										
TNIK	23043	genome.wustl.edu	37	chr3	170786639	170786639	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctacttctgagtacttacatGagatggtatgtagatatcat	8	6	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:170786639G>A	ENST00000436636.2	-	30	4041	c.3697C>T	c.(3697-3699)Cat>Tat	p.H1233Y	TNIK_ENST00000369326.5_Missense_Mutation_p.H1211Y|TNIK_ENST00000284483.8_Missense_Mutation_p.H1225Y|TNIK_ENST00000460047.1_Missense_Mutation_p.H1170Y|TNIK_ENST00000488470.1_Missense_Mutation_p.H1178Y|TNIK_ENST00000357327.5_Missense_Mutation_p.H1204Y|TNIK_ENST00000475336.1_Missense_Mutation_p.H1141Y|TNIK_ENST00000470834.1_Missense_Mutation_p.H1196Y|TNIK_ENST00000341852.6_Missense_Mutation_p.H1149Y|TNIK_ENST00000538048.1_Missense_Mutation_p.H1185Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1233	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTACTTACATGAGATGGTATG	0.363																																																	0													71	68	69					3																	170786639		1867	4100	5967	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3697C>T	3.37:g.170786639G>A	ENSP00000399511:p.His1233Tyr		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.H1233Y	ENST00000436636.2	37	c.3697	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845019	0.91197	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	M	0.74647	2.275	0.80722	D	1	P;P;P;D;P;P;P;D;P	0.53745	0.858;0.908;0.765;0.962;0.908;0.944;0.944;0.962;0.954	P;D;P;D;D;P;P;D;P	0.66716	0.8;0.922;0.537;0.946;0.922;0.8;0.655;0.946;0.874	T	0.00016	-1.2390	10	0.51188	T	0.08	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1185;1141;1196;1170;1149;1225;1204;1178;1233	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	Y	1233;1211;1185;1149;1225;1141;1204;1170;1178;1196	ENSP00000399511:H1233Y;ENSP00000358332:H1211Y;ENSP00000443278:H1185Y;ENSP00000345352:H1149Y;ENSP00000284483:H1225Y;ENSP00000418156:H1141Y;ENSP00000349880:H1204Y;ENSP00000418916:H1170Y;ENSP00000418378:H1178Y;ENSP00000419990:H1196Y	ENSP00000284483:H1225Y	H	-	1	0	TNIK	172269333	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CAT	TNIK	-	pfam_Citron,smart_Citron		0.363	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170786639	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170786639	G	A	170786639	3	1	24	1	0	0	0	0	1	0	0	0	16343	1290	45	1	401	1	TNIK	3	170786639	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	10637070	170786639	27235791	90	3511										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	24	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8149452	178936091	19086339	91	3512										
FETUB	26998	genome.wustl.edu	37	chr3	186364083	186364083	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggaatacttaattaaagaatCaccatgtactaaatcccagg	6	8	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr3:186364083C>T	ENST00000265029.3	+	5	742	c.641C>T	c.(640-642)tCa>tTa	p.S214L	FETUB_ENST00000382134.3_Missense_Mutation_p.S149L|FETUB_ENST00000450521.1_Missense_Mutation_p.S214L|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.S177L|FETUB_ENST00000539949.1_Missense_Mutation_p.S66L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	214	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ATTAAAGAATCACCATGTACT	0.413																																																	0													155	161	159					3																	186364083		2203	4300	6503	SO:0001583	missense	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.641C>T	3.37:g.186364083C>T	ENSP00000265029:p.Ser214Leu		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.S214L	ENST00000265029.3	37	c.641	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694869	0.68386	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	4.91	4.91	0.64330	Proteinase inhibitor I25, cystatin (2);	0.485092	0.17673	N	0.165897	T	0.40791	0.1131	M	0.75447	2.3	0.37776	D	0.926852	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.66979	0.948;0.948;0.946	T	0.38373	-0.9664	10	0.72032	D	0.01	-12.9054	13.7915	0.63143	0.0:1.0:0.0:0.0	.	177;149;214	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	L	214;66;66;214;149;177	ENSP00000404288:S214L;ENSP00000396581:S66L;ENSP00000443704:S66L;ENSP00000265029:S214L;ENSP00000371569:S149L;ENSP00000371571:S177L	ENSP00000265029:S214L	S	+	2	0	FETUB	187846777	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	1.487000	0.35540	2.725000	0.93324	0.655000	0.94253	TCA	FETUB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.413	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	C	NM_014375		186364083	1	no_errors	ENST00000265029	ensembl	human	known	70_37	missense	SNP	1.000	T	T	186364083	C	T	186364083	3	4	24	1	0	0	0	0	1	0	0	0	5839	838	29	1	659	1	FETUB	3	186364083	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7427992	186364083	11658347	92	3513										
EPHA5	2044	genome.wustl.edu	37	chr4	66231719	66231719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agcaaattcgtggacagcttGattgggatcctcataggtat	11	7	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:66231719G>A	ENST00000273854.3	-	11	2581	c.1981C>T	c.(1981-1983)Caa>Taa	p.Q661*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.Q662*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.Q498*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.Q639*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	661					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGACAGCTTGATTGGGATCC	0.368										TSP Lung(17;0.13)																																							0													220	177	192					4																	66231719		2203	4300	6503	SO:0001587	stop_gained	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1981C>T	4.37:g.66231719G>A	ENSP00000273854:p.Gln661*		Q7Z3F2	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q661*	ENST00000273854.3	37	c.1981	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	45	11.701243	0.99592	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	.	.	.	X	661;498;639;662	.	ENSP00000273854:Q661X	Q	-	1	0	EPHA5	65914314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.628000	0.74262	2.685000	0.91497	0.557000	0.71058	CAA	EPHA5	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.368	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66231719	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	66231719	G	A	66231719	4	1	24	1	0	0	0	0	0	1	0	0	5182	1299	45	1	1164	1	EPHA5	4	66231719	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		66231719	124922557	93	3514										
YTHDC1	91746	genome.wustl.edu	37	chr4	69179915	69179915	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcctctatctcgctctctgtCtcgtctgttatctctagggc	7	14	6	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69179915C>G	ENST00000344157.4	-	17	2421	c.2086G>C	c.(2086-2088)Gac>Cac	p.D696H	YTHDC1_ENST00000355665.3_Missense_Mutation_p.D678H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.D704H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	696	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cgctctctgtctcgtctgtta	0.512																																																	0													85	73	77					4																	69179915		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2086G>C	4.37:g.69179915C>G	ENSP00000339245:p.Asp696His		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D696H	ENST00000344157.4	37	c.2086	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454507	0.63290	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29917	1.55;1.55	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.38887	-0.9640	10	0.56958	D	0.05	.	19.1452	0.93463	0.0:1.0:0.0:0.0	.	678;696	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	696;678	ENSP00000339245:D696H;ENSP00000347888:D678H	ENSP00000339245:D696H	D	-	1	0	YTHDC1	68862510	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.830000	0.75319	2.619000	0.88677	0.467000	0.42956	GAC	YTHDC1	-	NULL		0.512	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69179915	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69179915	C	G	69179915	3	3	24	1	0	0	0	0	1	0	0	0	17527	913	32	1	101	1	YTHDC1	4	69179915	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2948196	69179915	121974361	94	3515										
YTHDC1	91746	genome.wustl.edu	37	chr4	69179929	69179929	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctctgtctcgtctgttatctCtagggcggtctcgctctcgt	10	13	6	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69179929C>G	ENST00000344157.4	-	17	2407	c.2072G>C	c.(2071-2073)aGa>aCa	p.R691T	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R673T|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R699T	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	691	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tctgttatctctagggcggtc	0.532																																																	0													86	73	78					4																	69179929		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2072G>C	4.37:g.69179929C>G	ENSP00000339245:p.Arg691Thr		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R691T	ENST00000344157.4	37	c.2072	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275766	0.40294	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28666	1.62;1.6	5.41	5.41	0.78517	.	0.048088	0.85682	D	0.000000	T	0.25975	0.0633	L	0.27053	0.805	0.46631	D	0.999135	P;P	0.40834	0.73;0.61	B;B	0.38755	0.281;0.191	T	0.02190	-1.1198	10	0.35671	T	0.21	.	18.8065	0.92040	0.0:1.0:0.0:0.0	.	673;691	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	T	691;673	ENSP00000339245:R691T;ENSP00000347888:R673T	ENSP00000339245:R691T	R	-	2	0	YTHDC1	68862524	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.080000	0.64437	2.543000	0.85770	0.467000	0.42956	AGA	YTHDC1	-	NULL		0.532	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69179929	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69179929	C	G	69179929	3	3	24	1	0	0	0	0	1	0	0	0	17527	913	32	1	115	1	YTHDC1	4	69179929	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	14	69179929	121974347	95	3516										
YTHDC1	91746	genome.wustl.edu	37	chr4	69179971	69179971	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cccggtctctttcacggggtCtacttctccggccactgaca	9	16	4	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69179971C>G	ENST00000344157.4	-	17	2365	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R659T|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R685T	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	677	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcACGGGGTCTACTTCTCCG	0.483																																																	0													84	73	77					4																	69179971		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2030G>C	4.37:g.69179971C>G	ENSP00000339245:p.Arg677Thr		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R677T	ENST00000344157.4	37	c.2030	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292120	0.59976	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.37584	1.24;1.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.57899	0.981;0.967	D;P	0.66351	0.943;0.879	T	0.52230	-0.8603	10	0.87932	D	0	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	659;677	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	T	677;659	ENSP00000339245:R677T;ENSP00000347888:R659T	ENSP00000339245:R677T	R	-	2	0	YTHDC1	68862566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.881000	0.69706	2.543000	0.85770	0.467000	0.42956	AGA	YTHDC1	-	NULL		0.483	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69179971	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69179971	C	G	69179971	3	3	24	1	0	0	0	0	1	0	0	0	17527	913	32	1	157	1	YTHDC1	4	69179971	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	42	69179971	121974305	96	3517										
YTHDC1	91746	genome.wustl.edu	37	chr4	69188564	69188564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acgcattttatgaatgacctGatacaagtcaatactttcat	5	8	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:69188564G>C	ENST00000344157.4	-	11	1839	c.1504C>G	c.(1504-1506)Cag>Gag	p.Q502E	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q484E|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q502E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	502					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGAATGACCTGATACAAGTCA	0.443																																																	0													103	104	103					4																	69188564		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1504C>G	4.37:g.69188564G>C	ENSP00000339245:p.Gln502Glu		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.Q502E	ENST00000344157.4	37	c.1504	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579553	0.46006	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.22336	2.0;1.96	6.06	6.06	0.98353	.	0.050994	0.85682	D	0.000000	T	0.42177	0.1191	L	0.51422	1.61	0.80722	D	1	P;B	0.41910	0.764;0.019	D;B	0.63488	0.915;0.05	T	0.01146	-1.1437	10	0.13853	T	0.58	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	484;502	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	E	502;484	ENSP00000339245:Q502E;ENSP00000347888:Q484E	ENSP00000339245:Q502E	Q	-	1	0	YTHDC1	68871159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.023000	0.93683	2.880000	0.98712	0.650000	0.86243	CAG	YTHDC1	-	NULL		0.443	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	G	NM_133370		69188564	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69188564	G	C	69188564	3	2	24	1	0	0	0	0	1	0	0	0	17527	1299	45	1	707	1	YTHDC1	4	69188564	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8593	69188564	121965712	97	3518										
C4orf31	79625	genome.wustl.edu	37	chr4	121958175	121958175	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctcatgttgctgttgatgttGaccacaaatacatcaaagta	7	8	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:121958175G>A	ENST00000379692.4	-	4	1477	c.951C>T	c.(949-951)gtC>gtT	p.V317V	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	317	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTGATGTTGACCACAAATA	0.433																																																	0													161	137	145					4																	121958175		2203	4300	6503	SO:0001819	synonymous_variant	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.951C>T	4.37:g.121958175G>A			A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.V317	ENST00000379692.4	37	c.951	CCDS3717.2	4																																																																																			NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.433	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	G	NM_024574		121958175	-1	no_errors	ENST00000379692	ensembl	human	known	70_37	silent	SNP	1.000	A	A	121958175	G	A	121958175	2	1	24	1	0	0	0	0	0	0	0	1	2266	1277	45	1		1	C4orf31	4	121958175	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	52769611	121958175	69196101	98	3519										
MAML3	55534	genome.wustl.edu	37	chr4	140640513	140640513	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aattcatcaagctcctgcatCcactcgtcccctggcccgcc	6	19	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:140640513C>G	ENST00000509479.2	-	5	4237	c.3381G>C	c.(3379-3381)tgG>tgC	p.W1127C	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCTCCTGCATCCACTCGTCCC	0.527																																																	0													49	52	51					4																	140640513		1991	4165	6156	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3381G>C	4.37:g.140640513C>G	ENSP00000421180:p.Trp1127Cys			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.W1127C	ENST00000509479.2	37	c.3381	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089117	0.55968	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.78924	-1.22	4.99	4.13	0.48395	.	0.103312	0.44902	D	0.000408	D	0.88145	0.6358	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.89943	0.4074	10	0.87932	D	0	.	15.5076	0.75753	0.0:0.8608:0.1392:0.0	.	1127;1123	E7EVW8;Q96JK9	.;MAML3_HUMAN	C	1127;434	ENSP00000421180:W1127C	ENSP00000421180:W1127C	W	-	3	0	MAML3	140859963	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.770000	0.68873	1.185000	0.42971	0.591000	0.81541	TGG	MAML3	-	NULL		0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	C			140640513	-1	no_errors	ENST00000509479	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140640513	C	G	140640513	3	3	24	1	0	0	0	0	1	0	0	0	9230	856	30	1	39	1	MAML3	4	140640513	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	18682338	140640513	50513763	99	3520										
TLR2	7097	genome.wustl.edu	37	chr4	154625477	154625477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caacaatctcaatttattttCtttgaatttgccgcaactca	3	10	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:154625477C>G	ENST00000260010.6	+	1	2826	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	473					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AATTTATTTTCTTTGAATTTG	0.358																																																	0													86	90	89					4																	154625477		2203	4300	6503	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1418C>G	4.37:g.154625477C>G	ENSP00000260010:p.Ser473Cys		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.S473C	ENST00000260010.6	37	c.1418	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	C	8.441	0.850868	0.17034	.	.	ENSG00000137462	ENST00000260010	T	0.01051	5.4	5.21	3.29	0.37713	.	0.946464	0.08804	N	0.891333	T	0.02304	0.0071	L	0.52573	1.65	0.09310	N	1	D	0.63880	0.993	P	0.50537	0.643	T	0.51244	-0.8730	10	0.62326	D	0.03	.	5.0536	0.14522	0.133:0.6057:0.1729:0.0884	.	473	O60603	TLR2_HUMAN	C	473	ENSP00000260010:S473C	ENSP00000260010:S473C	S	+	2	0	TLR2	154844927	0.000000	0.05858	0.165000	0.22776	0.011000	0.07611	-0.063000	0.11655	2.438000	0.82558	0.563000	0.77884	TCT	TLR2	-	pirsf_Toll-like_receptor		0.358	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	C			154625477	1	no_errors	ENST00000260010	ensembl	human	known	70_37	missense	SNP	0.007	G	G	154625477	C	G	154625477	3	3	24	1	0	0	0	0	1	0	0	0	15981	913	32	1	1420	1	TLR2	4	154625477	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	13984964	154625477	36528799	100	3521										
KLHL2	11275	genome.wustl.edu	37	chr4	166231823	166231823	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tggaccagcgttgctaacatGagagaccggagaagcacttt	12	9	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:166231823G>A	ENST00000226725.6	+	10	1417	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	KLHL2_ENST00000506761.1_Missense_Mutation_p.M220I|KLHL2_ENST00000421009.2_Missense_Mutation_p.M289I|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.M298I|KLHL2_ENST00000514860.1_Missense_Mutation_p.M390I	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	386					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTGCTAACATGAGAGACCGGA	0.448																																																	0													341	343	342					4																	166231823		2203	4300	6503	SO:0001583	missense	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1158G>A	4.37:g.166231823G>A	ENSP00000226725:p.Met386Ile		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M386I	ENST00000226725.6	37	c.1158	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.310993	0.95629	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.6	5.6	0.85130	Galactose oxidase, beta-propeller (1);	0.036599	0.85682	D	0.000000	D	0.93543	0.7939	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.77557	0.99;0.974;0.99	D	0.94580	0.7778	10	0.87932	D	0	.	19.6215	0.95658	0.0:0.0:1.0:0.0	.	390;386;386	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	I	386;390;298;289;220	ENSP00000226725:M386I;ENSP00000424198:M390I;ENSP00000437526:M298I;ENSP00000408974:M289I;ENSP00000424108:M220I	ENSP00000226725:M386I	M	+	3	0	KLHL2	166451273	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.625000	0.88918	0.650000	0.86243	ATG	KLHL2	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	G			166231823	1	no_errors	ENST00000226725	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166231823	G	A	166231823	3	1	24	1	0	0	0	0	1	0	0	0	8394	1290	45	1	1238	1	KLHL2	4	166231823	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	11606346	166231823	24922453	101	3522										
SC4MOL	6307	genome.wustl.edu	37	chr4	166254663	166254663	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttgaataattatacaaagttCcagattgcaacatggggatc	8	6	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:166254663C>G	ENST00000261507.6	+	2	314	c.141C>G	c.(139-141)ttC>ttG	p.F47L	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F47L	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	47					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										ATACAAAGTTCCAGATTGCAA	0.318																																																	0													91	95	94					4																	166254663		2203	4300	6503	SO:0001583	missense	6307			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"Fatty acid hydroxylase domain containing"	10545	protein-coding gene	gene with protein product		607545	"sterol-C4-methyl oxidase-like"	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.141C>G	4.37:g.166254663C>G	ENSP00000261507:p.Phe47Leu		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.F47L	ENST00000261507.6	37	c.141	CCDS3809.1	4	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633697	0.47049	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.58	2.51	0.30379	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	M	0.65677	2.01	0.80722	D	1	B;B	0.18461	0.006;0.028	B;B	0.17979	0.011;0.02	T	0.23440	-1.0188	10	0.12430	T	0.62	-25.4972	8.6282	0.33904	0.0:0.6366:0.0:0.3634	.	47;47	D6R952;Q15800	.;MSMO1_HUMAN	L	47	ENSP00000261507:F47L;ENSP00000425241:F47L;ENSP00000423633:F47L;ENSP00000425112:F47L	ENSP00000261507:F47L	F	+	3	2	SC4MOL	166474113	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.908000	0.39907	0.731000	0.32448	0.561000	0.74099	TTC	MSMO1	-	NULL		0.318	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMO1	HGNC	protein_coding	OTTHUMT00000363880.1	C	NM_006745		166254663	1	no_errors	ENST00000261507	ensembl	human	known	70_37	missense	SNP	1.000	G	G	166254663	C	G	166254663	3	3	24	1	0	0	0	0	1	0	0	0	13895	854	30	1	143	1	SC4MOL	4	166254663	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	22840	166254663	24899613	102	3523										
CCDC110	256309	genome.wustl.edu	37	chr4	186379879	186379879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cttgttccgtttttgccaatCtttctttctcttttagctgg	6	10	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr4:186379879C>G	ENST00000307588.3	-	6	1937	c.1862G>C	c.(1861-1863)aGa>aCa	p.R621T	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.R584T|CCDC110_ENST00000510617.1_Missense_Mutation_p.R621T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	621						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTGCCAATCTTTCTTTCTC	0.338																																																	0													79	83	81					4																	186379879		2202	4296	6498	SO:0001583	missense	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1862G>C	4.37:g.186379879C>G	ENSP00000306776:p.Arg621Thr		Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.R621T	ENST00000307588.3	37	c.1862	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	C	9.501	1.103190	0.20632	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.33654	1.4;1.4;1.4	5.55	0.704	0.18121	.	0.582336	0.16863	N	0.196429	T	0.32285	0.0824	L	0.60455	1.87	0.09310	N	1	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.49085	0.523;0.6;0.523	T	0.14980	-1.0453	10	0.25751	T	0.34	-4.1164	0.8396	0.01147	0.2423:0.3655:0.1181:0.2741	.	621;584;621	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	584;621;621	ENSP00000377172:R584T;ENSP00000306776:R621T;ENSP00000427246:R621T	ENSP00000306776:R621T	R	-	2	0	CCDC110	186616873	0.001000	0.12720	0.000000	0.03702	0.676000	0.39594	-0.262000	0.08682	-0.128000	0.11641	-0.140000	0.14226	AGA	CCDC110	-	NULL		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	C	NM_152775		186379879	-1	no_errors	ENST00000307588	ensembl	human	known	70_37	missense	SNP	0.000	G	G	186379879	C	G	186379879	3	3	24	1	0	0	0	0	1	0	0	0	2752	913	32	1	647	1	CCDC110	4	186379879	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	20125216	186379879	4774397	103	3524										
SDHA	6389	genome.wustl.edu	37	chr5	235338	235338	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agctggccacgcgcctgcctGgcatttcagagacagccatg	12	14	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:235338G>C	ENST00000264932.6	+	9	1259	c.1144G>C	c.(1144-1146)Ggc>Cgc	p.G382R	SDHA_ENST00000504309.1_Missense_Mutation_p.G382R|SDHA_ENST00000510361.1_Missense_Mutation_p.G334R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	382					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCGCCTGCCTGGCATTTCAGA	0.592									Familial Paragangliomas																																								0													63	57	59					5																	235338		2203	4300	6503	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1144G>C	5.37:g.235338G>C	ENSP00000264932:p.Gly382Arg		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.G382R	ENST00000264932.6	37	c.1144	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	N	22.8	4.333661	0.81801	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.69685	-0.42;-0.42;-0.42	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.84973	0.5591	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88106	0.2822	10	0.87932	D	0	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	334;382;382;382;388	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	R	382;237;382;334	ENSP00000264932:G382R;ENSP00000426514:G382R;ENSP00000427703:G334R	ENSP00000264932:G382R	G	+	1	0	SDHA	288338	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	8.994000	0.93529	2.541000	0.85698	0.557000	0.71058	GGC	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		235338	1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	C	C	235338	G	C	235338	3	2	24	1	0	0	0	0	1	0	0	0	13993	1348	47	4	1178	4	SDHA	5	235338	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		235338	180679922	104	3525										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5306693	5306693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtatgtttctggaaagtatcGagagctggcctcaaagaagt	12	6	2	2	rs374351561		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:5306693G>A	ENST00000274181.7	+	21	3401	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1088	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAAGTATCGAGAGCTGGCC	0.488																																																	0								G	GLN/ARG	0,3850		0,0,1925	78	80	79		3263	4.6	0.2	5		79	1,8245		0,1,4122	no	missense	ADAMTS16	NM_139056.2	43	0,1,6047	AA,AG,GG		0.0121,0.0,0.0083	benign	1088/1225	5306693	1,12095	1925	4123	6048	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3263G>A	5.37:g.5306693G>A	ENSP00000274181:p.Arg1088Gln		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1088Q	ENST00000274181.7	37	c.3263	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389971	0.25118	0.0	1.21E-4	ENSG00000145536	ENST00000274181	T	0.61040	0.14	5.51	4.61	0.57282	.	0.083854	0.53938	D	0.000051	T	0.40119	0.1104	L	0.41906	1.305	0.44061	D	0.996808	P	0.40731	0.728	B	0.30572	0.117	T	0.23833	-1.0177	10	0.13470	T	0.59	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1088	Q8TE57	ATS16_HUMAN	Q	1088	ENSP00000274181:R1088Q	ENSP00000274181:R1088Q	R	+	2	0	ADAMTS16	5359693	0.876000	0.30132	0.172000	0.22920	0.060000	0.15804	2.636000	0.46545	1.262000	0.44165	0.561000	0.74099	CGA	ADAMTS16	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5306693	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.918	A	A	5306693	G	A	5306693	3	1	24	1	0	0	0	0	1	0	0	0	261	1058	37	1	3345	1	ADAMTS16	5	5306693	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5071355	5306693	175608567	105	3526										
NIPBL	25836	genome.wustl.edu	37	chr5	37063920	37063920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tctcatggaacatctggaccCtgatgaagaagaagaagaag	11	7	2	6			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:37063920C>T	ENST00000282516.8	+	46	8388	c.7889C>T	c.(7888-7890)cCt>cTt	p.P2630L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P2630L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2630					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATCTGGACCCTGATGAAGAA	0.363																																																	0													45	43	44					5																	37063920		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7889C>T	5.37:g.37063920C>T	ENSP00000282516:p.Pro2630Leu		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P2630L	ENST00000282516.8	37	c.7889	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387421	0.82902	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93659	-3.26;-3.26	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.80183	2.485	0.80722	D	1	D;D;D	0.57571	0.965;0.965;0.98	P;P;P	0.61658	0.782;0.782;0.892	D	0.95910	0.8922	10	0.46703	T	0.11	-10.5243	19.3937	0.94596	0.0:1.0:0.0:0.0	.	2630;2630;2630	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	L	2630	ENSP00000282516:P2630L;ENSP00000406266:P2630L	ENSP00000282516:P2630L	P	+	2	0	NIPBL	37099677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.622000	0.61240	2.583000	0.87209	0.591000	0.81541	CCT	NIPBL	-	NULL		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		37063920	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37063920	C	T	37063920	3	4	24	1	0	0	0	0	1	0	0	0	10452	681	24	4	8067	4	NIPBL	5	37063920	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	31757227	37063920	143851340	106	3527										
NNT	23530	genome.wustl.edu	37	chr5	43659317	43659317	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggggtgctgacatgcccgtCgttatcactgtgctgaacag	14	10	1	2	rs556016683		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:43659317C>T	ENST00000264663.5	+	17	2720	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V	NNT_ENST00000512996.2_Silent_p.V702V|NNT_ENST00000344920.4_Silent_p.V833V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	833					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACATGCCCGTCGTTATCACTG	0.473																																																	0													171	160	164					5																	43659317		2203	4300	6503	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2499C>T	5.37:g.43659317C>T			Q16796|Q2TB60|Q8N3V4	Silent	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.V833	ENST00000264663.5	37	c.2499	CCDS3949.1	5																																																																																			NNT	-	pfam_NADH_DH_b		0.473	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	C	NM_182977		43659317	1	no_errors	ENST00000264663	ensembl	human	known	70_37	silent	SNP	0.015	T	T	43659317	C	T	43659317	2	4	24	1	0	0	0	0	0	0	0	1	10534	871	31	1		1	NNT	5	43659317	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	6595397	43659317	137255943	107	3528										
HCN1	348980	genome.wustl.edu	37	chr5	45353336	45353336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atggaatgacatgtattgttCcacttgcttatactgtaagg	9	6	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:45353336C>T	ENST00000303230.4	-	5	1300	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	415					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGTATTGTTCCACTTGCTTA	0.299																																																	0													143	132	136					5																	45353336		2203	4299	6502	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1243G>A	5.37:g.45353336C>T	ENSP00000307342:p.Glu415Lys			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.E415K	ENST00000303230.4	37	c.1243	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110384	0.77210	.	.	ENSG00000164588	ENST00000303230	D	0.96522	-4.04	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000002	D	0.95046	0.8396	L	0.49699	1.58	0.80722	D	1	B	0.16396	0.017	B	0.11329	0.006	D	0.90829	0.4715	10	0.62326	D	0.03	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	415	O60741	HCN1_HUMAN	K	415	ENSP00000307342:E415K	ENSP00000307342:E415K	E	-	1	0	HCN1	45389093	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.811000	0.86092	2.828000	0.97474	0.655000	0.94253	GAA	HCN1	-	superfamily_cNMP-bd-like		0.299	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45353336	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45353336	C	T	45353336	3	4	24	1	0	0	0	0	1	0	0	0	7016	864	30	1	1445	1	HCN1	5	45353336	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1694019	45353336	135561924	108	3529										
BDP1	55814	genome.wustl.edu	37	chr5	70806208	70806208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atttggaagaaactgaaagaGaaatatccccacaggaaaat	8	6	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:70806208G>A	ENST00000358731.4	+	17	3552	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1097	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACTGAAAGAGAAATATCCCC	0.443																																																	0													76	76	76					5																	70806208		1820	4082	5902	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3289G>A	5.37:g.70806208G>A	ENSP00000351575:p.Glu1097Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1097K	ENST00000358731.4	37	c.3289	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325014	0.41197	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19532	2.14	3.11	0.262	0.15597	.	2.675400	0.01525	N	0.018556	T	0.21267	0.0512	L	0.53249	1.67	0.19775	N	0.999958	B;B;B	0.32526	0.046;0.374;0.015	B;B;B	0.32583	0.021;0.148;0.041	T	0.14337	-1.0476	10	0.27785	T	0.31	.	5.0137	0.14326	0.4396:0.0:0.5604:0.0	.	1097;1097;1097	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	1097;677	ENSP00000351575:E1097K	ENSP00000351575:E1097K	E	+	1	0	BDP1	70841964	0.000000	0.05858	0.026000	0.17262	0.455000	0.32408	0.063000	0.14410	0.028000	0.15324	0.205000	0.17691	GAA	BDP1	-	NULL		0.443	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70806208	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.031	A	A	70806208	G	A	70806208	3	1	24	1	0	0	0	0	1	0	0	0	1396	943	33	1	3355	1	BDP1	5	70806208	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	25452872	70806208	110109052	109	3530										
RPS23	6228	genome.wustl.edu	37	chr5	81573526	81573526	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acttacactttttccagcacGattccttttgcatgagaagc	6	11	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:81573526G>A	ENST00000296674.8	-	2	403	c.150C>T	c.(148-150)atC>atT	p.I50I	RPS23_ENST00000510210.1_Silent_p.I50I|RPS23_ENST00000507980.1_Silent_p.I50I|ATP6AP1L_ENST00000380167.4_5'Flank|RPS23_ENST00000503605.1_5'UTR|RPS23_ENST00000511844.1_Silent_p.I50I|RPS23_ENST00000512493.1_Silent_p.I50I|RPS23_ENST00000510019.1_Silent_p.I50I	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTTCCAGCACGATTCCTTTTG	0.408																																																	0													160	157	158					5																	81573526		1885	4116	6001	SO:0001819	synonymous_variant	6228			AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"S ribosomal proteins"	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.150C>T	5.37:g.81573526G>A			P39028|Q6IB08	Silent	SNP	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc	p.I50	ENST00000296674.8	37	c.150	CCDS47241.1	5																																																																																			RPS23	-	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc		0.408	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS23	HGNC	protein_coding	OTTHUMT00000369546.2	G	NM_001025		81573526	-1	no_errors	ENST00000296674	ensembl	human	known	70_37	silent	SNP	0.827	A	A	81573526	G	A	81573526	2	1	24	1	0	0	0	0	0	0	0	1	13664	1048	37	1		1	RPS23	5	81573526	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	10767318	81573526	99341734	110	3531										
RPS23	6228	genome.wustl.edu	37	chr5	81573540	81573540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagcacgattccttttgcatGagaagcacctccaaaagggt	9	11	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:81573540G>A	ENST00000296674.8	-	2	389	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	RPS23_ENST00000510210.1_Missense_Mutation_p.H46Y|RPS23_ENST00000507980.1_Missense_Mutation_p.H46Y|ATP6AP1L_ENST00000380167.4_5'Flank|RPS23_ENST00000503605.1_5'UTR|RPS23_ENST00000511844.1_Missense_Mutation_p.H46Y|RPS23_ENST00000512493.1_Missense_Mutation_p.H46Y|RPS23_ENST00000510019.1_Missense_Mutation_p.H46Y	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		CCTTTTGCATGAGAAGCACCT	0.433																																																	0													159	156	157					5																	81573540		1891	4117	6008	SO:0001583	missense	6228			AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"S ribosomal proteins"	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.136C>T	5.37:g.81573540G>A	ENSP00000296674:p.His46Tyr		P39028|Q6IB08	Missense_Mutation	SNP	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc	p.H46Y	ENST00000296674.8	37	c.136	CCDS47241.1	5	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558532	0.65538	.	.	ENSG00000186468	ENST00000296674;ENST00000510210;ENST00000512493;ENST00000510019;ENST00000507980;ENST00000511844	.	.	.	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.101940	0.64402	D	0.000003	T	0.73377	0.3579	M	0.90705	3.14	0.80722	D	1	B	0.32382	0.368	B	0.26416	0.069	T	0.78196	-0.2298	9	0.72032	D	0.01	.	18.5607	0.91098	0.0:0.0:1.0:0.0	.	46	P62266	RS23_HUMAN	Y	46	.	ENSP00000296674:H46Y	H	-	1	0	RPS23	81609296	1.000000	0.71417	0.630000	0.29268	0.061000	0.15899	9.679000	0.98649	2.462000	0.83206	0.655000	0.94253	CAT	RPS23	-	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc		0.433	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS23	HGNC	protein_coding	OTTHUMT00000369546.2	G	NM_001025		81573540	-1	no_errors	ENST00000296674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81573540	G	A	81573540	3	1	24	1	0	0	0	0	1	0	0	0	13664	1290	45	1	307	1	RPS23	5	81573540	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	14	81573540	99341720	111	3532										
GPR98	84059	genome.wustl.edu	37	chr5	89933626	89933626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cctctggctttaattcaaaaGcagtgaccccggatgatata	8	10	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:89933626G>A	ENST00000405460.2	+	11	2197	c.2101G>A	c.(2101-2103)Gca>Aca	p.A701T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	701	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATTCAAAAGCAGTGACCCC	0.413																																																	0													66	62	63					5																	89933626		1823	4081	5904	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2101G>A	5.37:g.89933626G>A	ENSP00000384582:p.Ala701Thr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A701T	ENST00000405460.2	37	c.2101	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727115|2.727115	0.48833|0.48833	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.49139|.	0.79|.	5.46|5.46	3.47|3.47	0.39725|0.39725	.|.	0.264915|.	0.41938|.	D|.	0.000782|.	T|T	0.70544|0.70544	0.3236|0.3236	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B|.	0.25563|.	0.129|.	B|.	0.32533|.	0.147|.	T|T	0.71230|0.71230	-0.4654|-0.4654	10|5	0.45353|.	T|.	0.12|.	.|.	16.2652|16.2652	0.82574|0.82574	0.0:0.0:0.6747:0.3253|0.0:0.0:0.6747:0.3253	.|.	701|.	Q8WXG9|.	GPR98_HUMAN|.	T|N	701|289	ENSP00000384582:A701T|.	ENSP00000296619:A701T|.	A|S	+|+	1|2	0|0	GPR98|GPR98	89969382|89969382	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.709000|0.709000	0.40893|0.40893	3.105000|3.105000	0.50314|0.50314	1.286000|1.286000	0.44565|0.44565	-0.158000|-0.158000	0.13435|0.13435	GCA|AGC	GPR98	-	NULL		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89933626	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.923	A	A	89933626	G	A	89933626	3	1	24	1	0	0	0	0	1	0	0	0	6741	971	34	4	2143	4	GPR98	5	89933626	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8360086	89933626	90981634	112	3533										
GPR98	84059	genome.wustl.edu	37	chr5	90449160	90449160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggatatggccaggggtcactGatagccgatgaggagtccca	15	9	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:90449160G>A	ENST00000405460.2	+	89	18843	c.18747G>A	c.(18745-18747)ctG>ctA	p.L6249L	GPR98_ENST00000425867.2_Silent_p.L1910L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6249					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L6249L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGGTCACTGATAGCCGATG	0.478																																																	1	Substitution - coding silent(1)	urinary_tract(1)											69	70	70					5																	90449160		1892	4106	5998	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18747G>A	5.37:g.90449160G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L6249	ENST00000405460.2	37	c.18747	CCDS47246.1	5																																																																																			GPR98	-	NULL		0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90449160	1	no_errors	ENST00000405460	ensembl	human	known	70_37	silent	SNP	0.992	A	A	90449160	G	A	90449160	2	1	24	1	0	0	0	0	0	0	0	1	6741	1277	45	1		1	GPR98	5	90449160	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	515534	90449160	90466100	113	3534										
DMXL1	1657	genome.wustl.edu	37	chr5	118560455	118560455	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaatgacttctcatccaactCttccttactgtaagttgaat	5	10	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:118560455C>G	ENST00000311085.8	+	37	8346	c.8266C>G	c.(8266-8268)Ctt>Gtt	p.L2756V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L2777V|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2756										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCATCCAACTCTTCCTTACTG	0.254																																																	0													59	64	62					5																	118560455		2176	4245	6421	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8266C>G	5.37:g.118560455C>G	ENSP00000309690:p.Leu2756Val			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2777V	ENST00000311085.8	37	c.8329	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379399	0.61845	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01323	5.01;5.01	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.975	T	0.38023	-0.9680	10	0.30854	T	0.27	-15.4786	14.1086	0.65107	0.0:0.9249:0.0:0.075	.	2777;2756	F5H269;Q9Y485	.;DMXL1_HUMAN	V	2756;2777	ENSP00000309690:L2756V;ENSP00000439479:L2777V	ENSP00000309690:L2756V	L	+	1	0	DMXL1	118588354	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.749000	0.55150	2.425000	0.82216	0.484000	0.47621	CTT	DMXL1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.254	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	C	NM_005509		118560455	1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118560455	C	G	118560455	3	3	24	1	0	0	0	0	1	0	0	0	4604	913	32	1	8412	1	DMXL1	5	118560455	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	28111295	118560455	62354805	114	3535										
TMCO6	55374	genome.wustl.edu	37	chr5	140019389	140019389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgctgagaaacgacgccccaGaggaagctggagagggatgt	16	8	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140019389G>C	ENST00000394671.3	+	2	252	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	TMCO6_ENST00000537378.1_5'UTR|TMCO6_ENST00000252100.6_Missense_Mutation_p.E51Q|TMCO6_ENST00000511410.1_Missense_Mutation_p.E51Q|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	51	Arg-rich.				protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGCCCCAGAGGAAGCTGG	0.677																																																	0													34	51	45					5																	140019389		2052	4195	6247	SO:0001583	missense	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.151G>C	5.37:g.140019389G>C	ENSP00000378166:p.Glu51Gln		Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.E51Q	ENST00000394671.3	37	c.151	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386829	0.82902	.	.	ENSG00000113119	ENST00000394671;ENST00000511410;ENST00000252100	T;T;T	0.32023	1.47;1.47;1.47	5.24	5.24	0.73138	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.274129	0.21720	U	0.070136	T	0.47525	0.1450	M	0.65498	2.005	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62184	0.899;0.899;0.899	T	0.27536	-1.0071	10	0.20046	T	0.44	-7.9361	12.8494	0.57848	0.0796:0.0:0.9204:0.0	.	51;51;51	E7ESN7;Q96DC7-2;Q96DC7	.;.;TMCO6_HUMAN	Q	51	ENSP00000378166:E51Q;ENSP00000422154:E51Q;ENSP00000252100:E51Q	ENSP00000252100:E51Q	E	+	1	0	TMCO6	139999573	0.991000	0.36638	0.932000	0.37286	0.596000	0.36781	4.606000	0.61126	2.456000	0.83038	0.557000	0.71058	GAG	TMCO6	-	superfamily_ARM-type_fold,pfscan_Importin-a_IBB		0.677	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	G	NM_018502		140019389	1	no_errors	ENST00000252100	ensembl	human	known	70_37	missense	SNP	0.987	C	C	140019389	G	C	140019389	3	2	24	1	0	0	0	0	1	0	0	0	16030	943	33	1	157	1	TMCO6	5	140019389	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	21458934	140019389	40895871	115	3536										
PCDHA2	56146	genome.wustl.edu	37	chr5	140176742	140176742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtgccacccaccgagggtgcGcgcgcgccaggaaagcccac	14	17	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140176742G>A	ENST00000526136.1	+	1	2193	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A731A|PCDHA2_ENST00000378132.1_Silent_p.A731A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGTGCGCGCGCGCCAG	0.677																																																	0													52	54	53					5																	140176742		2203	4299	6502	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2193G>A	5.37:g.140176742G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A731	ENST00000526136.1	37	c.2193	CCDS54914.1	5																																																																																			PCDHA2	-	NULL		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140176742	1	no_errors	ENST00000526136	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140176742	G	A	140176742	2	1	24	1	0	0	0	0	0	0	0	1	11548	1074	38	2		2	PCDHA2	5	140176742	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	157353	140176742	40738518	116	3537										
PCDHB3	56132	genome.wustl.edu	37	chr5	140482562	140482562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttatccccaacttcgttgctCagggtgcagagagggttagc	12	10	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140482562C>G	ENST00000231130.2	+	1	2329	c.2329C>G	c.(2329-2331)Cag>Gag	p.Q777E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	777					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGTTGCTCAGGGTGCAGA	0.483																																																	0													82	86	85					5																	140482562		2203	4297	6500	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2329C>G	5.37:g.140482562C>G	ENSP00000231130:p.Gln777Glu		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q777E	ENST00000231130.2	37	c.2329	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723781	0.15439	.	.	ENSG00000113205	ENST00000231130	T	0.15139	2.45	3.11	1.07	0.20283	.	.	.	.	.	T	0.18676	0.0448	M	0.66439	2.03	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.21759	-1.0236	9	0.39692	T	0.17	.	8.9067	0.35528	0.0:0.5243:0.4757:0.0	.	777	Q9Y5E6	PCDB3_HUMAN	E	777	ENSP00000231130:Q777E	ENSP00000231130:Q777E	Q	+	1	0	PCDHB3	140462746	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	-0.482000	0.06544	-0.046000	0.13446	0.484000	0.47621	CAG	PCDHB3	-	NULL		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140482562	1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.002	G	G	140482562	C	G	140482562	3	3	24	1	0	0	0	0	1	0	0	0	11567	827	29	1	2331	1	PCDHB3	5	140482562	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	305820	140482562	40432698	117	3538										
PCDHGA6	56109	genome.wustl.edu	37	chr5	140754203	140754203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tctcagtggacgtgcaaagcGaagcccatgggcccaagtac	12	12	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140754203G>A	ENST00000517434.1	+	1	553	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCAAAGCGAAGCCCATGG	0.552																																																	0													21	23	22					5																	140754203		1982	4176	6158	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.553G>A	5.37:g.140754203G>A	ENSP00000429601:p.Glu185Lys		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E185K	ENST00000517434.1	37	c.553	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.415719	0.00191	.	.	ENSG00000253731	ENST00000517434	T	0.19669	2.13	5.23	-3.27	0.05048	Cadherin (4);Cadherin-like (1);	0.673378	0.11050	U	0.605112	T	0.05547	0.0146	N	0.01242	-0.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.41466	-0.9507	10	0.17369	T	0.5	.	7.4167	0.27048	0.3891:0.3515:0.2595:0.0	.	185;185	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	185	ENSP00000429601:E185K	ENSP00000429601:E185K	E	+	1	0	PCDHGA6	140734387	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.981000	0.00662	-0.867000	0.04063	-0.929000	0.02709	GAA	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	G	NM_018919		140754203	1	no_errors	ENST00000517434	ensembl	human	known	70_37	missense	SNP	0.000	A	A	140754203	G	A	140754203	3	1	24	1	0	0	0	0	1	0	0	0	11582	1059	37	1	555	1	PCDHGA6	5	140754203	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	271641	140754203	40161057	118	3539										
PCDHGB7	56099	genome.wustl.edu	37	chr5	140797792	140797792	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atttttcatgtcattgtggtGattgaggatgttaatgacca	10	4	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:140797792G>T	ENST00000398594.2	+	1	366	c.366G>T	c.(364-366)gtG>gtT	p.V122V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTGTGGTGATTGAGGATG	0.403																																																	0													148	151	150					5																	140797792		1864	4086	5950	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.366G>T	5.37:g.140797792G>T			Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V122	ENST00000398594.2	37	c.366	CCDS47293.1	5																																																																																			PCDHGB7	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	G	NM_018927		140797792	1	no_errors	ENST00000398594	ensembl	human	known	70_37	silent	SNP	0.012	T	T	140797792	G	T	140797792	2	4	24	1	0	0	0	0	0	0	0	1	11592	1277	45	3		3	PCDHGB7	5	140797792	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	43589	140797792	40117468	119	3540										
ITK	3702	genome.wustl.edu	37	chr5	156667073	156667073	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgtgtttcatttgtttaagtGagaacaatccctgtataaag	8	5	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:156667073G>A	ENST00000422843.3	+	10	1005	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	285	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TTGTTTAAGTGAGAACAATCC	0.318			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													109	95	100					5																	156667073		2203	4300	6503	SO:0001630	splice_region_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.852-1G>A	5.37:g.156667073G>A			B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E285K	ENST00000422843.3	37	c.853	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752293	0.69533	.	.	ENSG00000113263	ENST00000422843	T	0.75704	-0.96	5.73	5.73	0.89815	SH2 motif (4);	0.349077	0.30446	N	0.009618	T	0.77987	0.4213	M	0.76838	2.35	0.51482	D	0.999924	P	0.38711	0.643	B	0.38921	0.285	T	0.77973	-0.2386	10	0.40728	T	0.16	.	19.8847	0.96909	0.0:0.0:1.0:0.0	.	285	Q08881	ITK_HUMAN	K	285	ENSP00000398655:E285K	ENSP00000398655:E285K	E	+	1	0	ITK	156599651	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.602000	0.90868	2.713000	0.92767	0.655000	0.94253	GAG	ITK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.318	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	G		Missense_Mutation	156667073	1	no_errors	ENST00000422843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156667073	G	A	156667073	5	1	24	1	0	0	0	0	0	0	1	0	7929	1304	45	1	891	1	ITK	5	156667073	Splice_Site	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	15869281	156667073	24248187	120	3541										
STK10	6793	genome.wustl.edu	37	chr5	171544618	171544618	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acctgtatctggggctccgtGaggcctctgtccagctctgg	13	13	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:171544618G>A	ENST00000176763.5	-	4	730	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGGCTCCGTGAGGCCTCTGT	0.547																																																	0													94	86	89					5																	171544618		2203	4300	6503	SO:0001819	synonymous_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.387C>T	5.37:g.171544618G>A			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	pfam_PKK,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.L129	ENST00000176763.5	37	c.387	CCDS34290.1	5																																																																																			STK10	-	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		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	G	NM_005990		171544618	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	silent	SNP	1.000	A	A	171544618	G	A	171544618	2	1	24	1	0	0	0	0	0	0	0	1	15316	1277	45	1		1	STK10	5	171544618	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	14877545	171544618	9370642	121	3542										
PRR7	80758	genome.wustl.edu	37	chr5	176882210	176882210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gccaggaggagcgactgcgcGagcagaacctgcgcgcccta	15	14	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:176882210G>C	ENST00000323249.3	+	3	632	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	PRR7_ENST00000510492.1_Missense_Mutation_p.E48Q|PRR7_ENST00000502922.1_Missense_Mutation_p.E48Q	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	48						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGACTGCGCGAGCAGAACCT	0.716																																																	0													22	21	21					5																	176882210		2193	4287	6480	SO:0001583	missense	80758			BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.142G>C	5.37:g.176882210G>C	ENSP00000327168:p.Glu48Gln		Q8WU53|Q9BTA7	Missense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.E48Q	ENST00000323249.3	37	c.142	CCDS4419.1	5	.	.	.	.	.	.	.	.	.	.	g	19.63	3.862912	0.71949	.	.	ENSG00000131188	ENST00000507881;ENST00000323249;ENST00000502922;ENST00000510492;ENST00000355386	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	3.58	3.58	0.41010	.	0.000000	0.64402	D	0.000002	T	0.81327	0.4799	L	0.47190	1.495	0.48395	D	0.999647	D	0.89917	1.0	D	0.91635	0.999	D	0.83398	0.0021	10	0.66056	D	0.02	-7.7987	14.1207	0.65184	0.0:0.0:1.0:0.0	.	48	Q8TB68	PRR7_HUMAN	Q	48	ENSP00000426601:E48Q;ENSP00000327168:E48Q;ENSP00000420872:E48Q;ENSP00000421039:E48Q	ENSP00000327168:E48Q	E	+	1	0	PRR7	176814816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.167000	0.89668	1.828000	0.53243	0.486000	0.48141	GAG	PRR7	-	pfam_Uncharacterised_WW-bd		0.716	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR7	HGNC	protein_coding	OTTHUMT00000253435.1	G	NM_030567		176882210	1	no_errors	ENST00000323249	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176882210	G	C	176882210	3	2	24	1	0	0	0	0	1	0	0	0	12630	1059	37	1	144	1	PRR7	5	176882210	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5337592	176882210	4033050	122	3543										
BTNL3	10917	genome.wustl.edu	37	chr5	180431735	180431735	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctctctctgcttgctttcaGaattgagagacgcccggaaa	10	11	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr5:180431735G>A	ENST00000342868.6	+	7	1019		c.e7-1		RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3							integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTTGCTTTCAGAATTGAGAGA	0.542																																																	0													97	81	87					5																	180431735		2203	4300	6503	SO:0001630	splice_region_variant	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.836-1G>A	5.37:g.180431735G>A			Q496L7|Q9Y2C7	Splice_Site	SNP	-	e7-1	ENST00000342868.6	37	c.836-1	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069189	0.20147	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0278	0.30446	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTNL3	180364341	0.945000	0.32115	0.033000	0.17914	0.092000	0.18411	1.433000	0.34947	1.081000	0.41110	0.205000	0.17691	.	BTNL3	-	-		0.542	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	G	NM_197975	Intron	180431735	1	no_errors	ENST00000342868	ensembl	human	known	70_37	splice_site	SNP	0.680	A	A	180431735	G	A	180431735	5	1	24	1	0	0	0	0	0	0	1	0	1569	956	33	1	861	1	BTNL3	5	180431735	Splice_Site	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3549525	180431735	483525	123	3544										
C4A	721	genome.wustl.edu	37	chr6	31997361	31997361	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agataacctgtactggggctCagtcactggttctcagagca	11	10	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:31997361C>T	ENST00000435363.2	+	29	3779	c.3695C>T	c.(3694-3696)tCa>tTa	p.S1232L	C4B_ENST00000425700.2_Missense_Mutation_p.S1232L	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1232					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TACTGGGGCTCAGTCACTGGT	0.617																																																	0			GRCh37	CI994175	C4B	I							11	14	13					6																	31997361		1406	2561	3967	SO:0001583	missense	721			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3695C>T	6.37:g.31997361C>T	ENSP00000415941:p.Ser1232Leu		A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S1232L	ENST00000435363.2	37	c.3695	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186035	0.38609	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.14391	2.51;2.51	5.03	1.2	0.21068	.	1.403770	0.04550	N	0.389721	T	0.02929	0.0087	L	0.43598	1.365	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.14023	0.006;0.01	T	0.37957	-0.9683	10	0.07030	T	0.85	.	6.4013	0.21640	0.0:0.5804:0.0:0.4196	.	1232;1232	F5GXS0;Q6U2E9	.;.	L	1232	ENSP00000415941:S1232L;ENSP00000391933:S1232L	ENSP00000391933:S1232L	S	+	2	0	C4B	32105340	0.255000	0.24002	0.246000	0.24233	0.705000	0.40729	1.130000	0.31393	0.178000	0.19917	-0.274000	0.10170	TCA	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	C	NM_001002029		31997361	1	no_errors	ENST00000435363	ensembl	human	known	70_37	missense	SNP	0.018	T	T	31997361	C	T	31997361	3	4	24	1	0	0	0	0	1	0	0	0	2252	838	29	1	8534	1	C4A	6	31997361	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		31997361	139117706	124	3545										
PBX2	5089	genome.wustl.edu	37	chr6	32154456	32154456	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cctggccccatcgagtgtcgGagtgattccacctgcaggca	12	14	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:32154456G>A	ENST00000375050.4	-	8	1395	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	AGER_ENST00000375055.2_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000438221.2_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375067.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	375					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCGAGTGTCGGAGTGATTCCA	0.557																																																	0													43	45	44					6																	32154456		2203	4300	6503	SO:0001819	synonymous_variant	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1125C>T	6.37:g.32154456G>A			A2BFJ2	Silent	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L375	ENST00000375050.4	37	c.1125	CCDS4748.1	6																																																																																			PBX2	-	NULL		0.557	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX2	HGNC	protein_coding	OTTHUMT00000076194.4	G			32154456	-1	no_errors	ENST00000375050	ensembl	human	known	70_37	silent	SNP	0.998	A	A	32154456	G	A	32154456	2	1	24	1	0	0	0	0	0	0	0	1	11517	1161	41	1		1	PBX2	6	32154456	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	157095	32154456	138960611	125	3546										
VPS52	6293	genome.wustl.edu	37	chr6	33237985	33237985	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccatcgcttaccatccacttCatccaggatgaattcatcag	5	14	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:33237985C>G	ENST00000445902.2	-	2	384	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_5'UTR|RPS18_ENST00000474973.1_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	56					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCATCCACTTCATCCAGGATG	0.522																																																	0													153	155	154					6																	33237985		2203	4300	6503	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.166G>C	6.37:g.33237985C>G	ENSP00000409952:p.Glu56Gln		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.E56Q	ENST00000445902.2	37	c.166	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932102	0.34096	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	L	0.48642	1.525	0.80722	D	1	P	0.35272	0.493	B	0.28991	0.097	T	0.33059	-0.9883	9	0.40728	T	0.16	-14.4295	14.5864	0.68328	0.0:1.0:0.0:0.0	.	56	Q8N1B4	VPS52_HUMAN	Q	56;34	.	ENSP00000414785:E34Q	E	-	1	0	VPS52	33345963	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.435000	0.59941	2.826000	0.97356	0.579000	0.79373	GAA	VPS52	-	NULL		0.522	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	C	NM_022553		33237985	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33237985	C	G	33237985	3	3	24	1	0	0	0	0	1	0	0	0	17245	835	29	1	2081	1	VPS52	6	33237985	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1083529	33237985	137877082	126	3547										
ENPP4	22875	genome.wustl.edu	37	chr6	46107443	46107443	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggcttcagagctgattatctGaagaactatgaatttcctca	8	8	3	5			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:46107443G>A	ENST00000321037.4	+	2	353	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	41					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATTATCTGAAGAACTATG	0.343																																																	0													71	74	73					6																	46107443		2202	4297	6499	SO:0001819	synonymous_variant	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.123G>A	6.37:g.46107443G>A			A8K5G1|Q7L2N1	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L41	ENST00000321037.4	37	c.123	CCDS34468.1	6																																																																																			ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.343	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	G			46107443	1	no_errors	ENST00000321037	ensembl	human	known	70_37	silent	SNP	0.007	A	A	46107443	G	A	46107443	2	1	24	1	0	0	0	0	0	0	0	1	5144	1277	45	1		1	ENPP4	6	46107443	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	12869458	46107443	125007624	127	3548										
HIVEP2	3097	genome.wustl.edu	37	chr6	143093707	143093707	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggtcataatcggaagccatGatgcccacaggagtgcttac	12	10	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:143093707G>A	ENST00000367604.1	-	4	2808	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	HIVEP2_ENST00000367603.2_Silent_p.I723I|HIVEP2_ENST00000012134.2_Silent_p.I723I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGGAAGCCATGATGCCCACAG	0.522																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													121	130	127					6																	143093707		2123	4238	6361	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2169C>T	6.37:g.143093707G>A			Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I723	ENST00000367604.1	37	c.2169	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.522	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143093707	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	0.000	A	A	143093707	G	A	143093707	2	1	24	1	0	0	0	0	0	0	0	1	7207	1280	45	1		1	HIVEP2	6	143093707	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	96986264	143093707	28021360	128	3549										
TAB2	23118	genome.wustl.edu	37	chr6	149700292	149700292	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cttcatatccacaaactctgGagcatctgctgcctccagga	7	14	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:149700292G>C	ENST00000367456.1	+	4	1818	c.1241G>C	c.(1240-1242)gGa>gCa	p.G414A	TAB2_ENST00000538427.1_Missense_Mutation_p.G414A|TAB2_ENST00000536230.1_Missense_Mutation_p.G382A|TAB2_ENST00000392282.1_Missense_Mutation_p.G414A|TAB2_ENST00000286332.5_Missense_Mutation_p.G414A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	414					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACAAACTCTGGAGCATCTGCT	0.493																																																	0													73	70	71					6																	149700292		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1241G>C	6.37:g.149700292G>C	ENSP00000356426:p.Gly414Ala		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.G414A	ENST00000367456.1	37	c.1241	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	1.415	-0.574412	0.03882	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.65	5.65	0.86999	.	0.169640	0.51477	D	0.000086	T	0.05823	0.0152	N	0.14661	0.345	0.58432	D	0.999993	P;P	0.52842	0.956;0.956	P;P	0.45856	0.495;0.495	T	0.42050	-0.9474	10	0.12766	T	0.61	-7.7589	19.9142	0.97043	0.0:0.0:1.0:0.0	.	382;414	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	A	382;414;414;414;414	ENSP00000443206:G382A;ENSP00000376106:G414A;ENSP00000445752:G414A;ENSP00000356426:G414A;ENSP00000286332:G414A	ENSP00000286332:G414A	G	+	2	0	TAB2	149741985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.377000	0.66184	2.941000	0.99782	0.655000	0.94253	GGA	TAB2	-	NULL		0.493	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	G			149700292	1	no_errors	ENST00000286332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149700292	G	C	149700292	3	2	24	1	0	0	0	0	1	0	0	0	15526	1174	41	1	1247	1	TAB2	6	149700292	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6606585	149700292	21414775	129	3550										
CNKSR3	154043	genome.wustl.edu	37	chr6	154727587	154727587	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gagccagatttctttttggtCccttcctcctggaatggaat	9	10	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:154727587C>T	ENST00000607772.1	-	13	2113	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	CNKSR3_ENST00000433165.2_Silent_p.G348G|CNKSR3_ENST00000479339.1_Silent_p.G443G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	523	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCTTTTTGGTCCCTTCCTCCT	0.562																																																	0													140	111	121					6																	154727587		2203	4300	6503	SO:0001819	synonymous_variant	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1569G>A	6.37:g.154727587C>T			Q5SGD5|Q96N65	Silent	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.G523	ENST00000607772.1	37	c.1569	CCDS5246.1	6																																																																																			CNKSR3	-	pfam_CNKSR2		0.562	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	C	NM_173515		154727587	-1	no_errors	ENST00000367213	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154727587	C	T	154727587	2	4	24	1	0	0	0	0	0	0	0	1	3613	842	30	1		1	CNKSR3	6	154727587	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5027295	154727587	16387480	130	3551										
FNDC1	84624	genome.wustl.edu	37	chr6	159682278	159682278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctacggacctatcagcccttCggtctcatttgtcaccgaat	7	14	3	0	rs369189702		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr6:159682278C>T	ENST00000297267.9	+	19	5431	c.5231C>T	c.(5230-5232)tCg>tTg	p.S1744L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1681L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1744	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCAGCCCTTCGGTCTCATTT	0.348																																																	0								C	LEU/SER	0,3690		0,0,1845	112	106	108		5231	5.8	0.1	6		108	2,8168		0,2,4083	no	missense	FNDC1	NM_032532.2	145	0,2,5928	TT,TC,CC		0.0245,0.0,0.0169	probably-damaging	1744/1895	159682278	2,11858	1845	4085	5930	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5231C>T	6.37:g.159682278C>T	ENSP00000297267:p.Ser1744Leu		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S1744L	ENST00000297267.9	37	c.5231	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484960	0.63962	0.0	2.45E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08458	3.09;3.98	5.81	5.81	0.92471	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.070538	0.64402	D	0.000018	T	0.11367	0.0277	L	0.41710	1.295	0.30482	N	0.772236	D	0.89917	1.0	D	0.69654	0.965	T	0.02813	-1.1107	9	.	.	.	-16.8578	14.8622	0.70389	0.1436:0.8564:0.0:0.0	.	1744	Q4ZHG4	FNDC1_HUMAN	L	1744;1681	ENSP00000297267:S1744L;ENSP00000342460:S1681L	.	S	+	2	0	FNDC1	159602268	0.999000	0.42202	0.118000	0.21660	0.261000	0.26267	4.370000	0.59517	2.750000	0.94351	0.655000	0.94253	TCG	FNDC1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.348	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159682278	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.031	T	T	159682278	C	T	159682278	3	4	24	1	0	0	0	0	1	0	0	0	5986	893	31	1	5305	1	FNDC1	6	159682278	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4954691	159682278	11432789	131	3552										
AIMP2	7965	genome.wustl.edu	37	chr7	6054882	6054882	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atggcctctccaagatgattCaaacaccagatgcagacttg	8	11	2	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:6054882C>G	ENST00000223029.3	+	2	360	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Missense_Mutation_p.Q3E	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	81					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAAGATGATTCAAACACCAGA	0.458																																																	0													148	140	143					7																	6054882		2203	4300	6503	SO:0001583	missense	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.241C>G	7.37:g.6054882C>G	ENSP00000223029:p.Gln81Glu		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.Q81E	ENST00000223029.3	37	c.241	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919772	0.52653	.	.	ENSG00000106305	ENST00000223029;ENST00000400479	T;T	0.31769	1.48;1.54	5.27	5.27	0.74061	.	0.176817	0.50627	D	0.000110	T	0.36744	0.0978	M	0.68317	2.08	0.80722	D	1	B	0.20261	0.043	B	0.26770	0.073	T	0.17961	-1.0352	10	0.20046	T	0.44	-10.4979	18.9292	0.92558	0.0:1.0:0.0:0.0	.	81	Q13155	AIMP2_HUMAN	E	81;3	ENSP00000223029:Q81E;ENSP00000383327:Q3E	ENSP00000223029:Q81E	Q	+	1	0	AIMP2	6021408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.315000	0.59172	2.461000	0.83175	0.655000	0.94253	CAA	AIMP2	-	NULL		0.458	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	C	NM_006303		6054882	1	no_errors	ENST00000223029	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6054882	C	G	6054882	3	3	24	1	0	0	0	0	1	0	0	0	434	827	29	1	247	1	AIMP2	7	6054882	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		6054882	153083781	132	3553										
C7orf10	79783	genome.wustl.edu	37	chr7	40220584	40220584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cattggaaggggtaaaaattCtggatctaacaaggtttgta	11	4	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:40220584C>G	ENST00000335693.4	+	2	183	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	C7orf10_ENST00000401647.2_Missense_Mutation_p.L54V|C7orf10_ENST00000309930.5_Missense_Mutation_p.L54V|C7orf10_ENST00000540834.1_Missense_Mutation_p.L47V	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		54					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGTAAAAATTCTGGATCTAAC	0.284																																																	0													258	256	257					7																	40220584		1797	4069	5866	SO:0001583	missense	79783																														ENST00000335693.4:c.160C>G	7.37:g.40220584C>G	ENSP00000338475:p.Leu54Val		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.L54V	ENST00000335693.4	37	c.160	CCDS55105.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.68|14.68|14.68	2.606763|2.606763|2.606763	0.46527|0.46527|0.46527	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931	.|D;T;T;T|.	.|0.88277|.	.|-2.36;0.46;0.46;0.46|.	4.12|4.12|4.12	3.23|3.23|3.23	0.37069|0.37069|0.37069	.|CoA-transferase family III domain (2);|.	.|0.206918|.	.|0.31134|.	.|N|.	.|0.008198|.	T|T|T	0.26666|0.26666|0.26666	0.0652|0.0652|0.0652	N|N|N	0.16098|0.16098|0.16098	0.37|0.37|0.37	0.32125|0.32125|0.32125	N|N|N	0.587567|0.587567|0.587567	.|P;P;P|.	.|0.50617|.	.|0.937;0.709;0.924|.	.|P;P;P|.	.|0.54401|.	.|0.751;0.541;0.73|.	T|T|T	0.30851|0.30851|0.30851	-0.9964|-0.9964|-0.9964	5|10|5	.|0.52906|.	.|T|.	.|0.07|.	-12.3933|-12.3933|-12.3933	8.1428|8.1428|8.1428	0.31093|0.31093|0.31093	0.0:0.807:0.0:0.193|0.0:0.807:0.0:0.193|0.0:0.807:0.0:0.193	.|.|.	.|54;54;54|.	.|Q4KMW8;Q9HAC7;Q9HAC7-2|.	.|.;CG010_HUMAN;.|.	L|V|C	48|54;54;54;47|65	.|ENSP00000312054:L54V;ENSP00000385222:L54V;ENSP00000338475:L54V;ENSP00000445521:L47V|.	.|ENSP00000312054:L54V|.	F|L|S	+|+|+	3|1|2	2|2|0	C7orf10|C7orf10|C7orf10	40187109|40187109|40187109	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.974000|0.974000|0.974000	0.67602|0.67602|0.67602	1.150000|1.150000|1.150000	0.31639|0.31639|0.31639	1.301000|1.301000|1.301000	0.44836|0.44836|0.44836	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	TTC|CTG|TCT	C7orf10	-	superfamily_CoA-Trfase_III_dom		0.284	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	C			40220584	1	no_errors	ENST00000309930	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40220584	C	G	40220584	3	3	24	1	0	0	0	0	1	0	0	0	2381	912	32	1	166	1	C7orf10	7	40220584	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	34165702	40220584	118918079	133	3554										
GIGYF1	64599	genome.wustl.edu	37	chr7	100284988	100284988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaaggccccatcgccttcttCgatgcttctttggtaaaagc	8	12	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:100284988C>T	ENST00000275732.5	-	5	1624	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	139					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCGCCTTCTTCGATGCTTCTT	0.637																																																	0													95	102	99					7																	100284988		2203	4300	6503	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.415G>A	7.37:g.100284988C>T	ENSP00000275732:p.Glu139Lys		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E139K	ENST00000275732.5	37	c.415	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	35	5.429877	0.96131	.	.	ENSG00000146830	ENST00000275732	D	0.83419	-1.72	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	L	0.43152	1.355	0.58432	D	0.999998	D	0.65815	0.995	P	0.49799	0.622	T	0.76454	-0.2953	10	0.11485	T	0.65	-12.5416	15.1728	0.72888	0.0:1.0:0.0:0.0	.	139	O75420	PERQ1_HUMAN	K	139	ENSP00000275732:E139K	ENSP00000275732:E139K	E	-	1	0	GIGYF1	100122924	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.197000	0.77814	2.415000	0.81967	0.563000	0.77884	GAA	GIGYF1	-	NULL		0.637	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	C	NM_022574		100284988	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100284988	C	T	100284988	3	4	24	1	0	0	0	0	1	0	0	0	6396	893	31	1	2772	1	GIGYF1	7	100284988	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	60064404	100284988	58853675	134	3555										
CTAGE4	100128553	genome.wustl.edu	37	chr7	143882559	143882559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cttctttggataaaatggatAggtcaatgccttcagaaatg	9	6	3	1	rs199840651	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:143882559A>G	ENST00000486333.1	+	1	2001	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	655				R -> G (in Ref. 3; AAN77609). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TAAAATGGATAGGTCAATGCC	0.383																																																	0													1	1	1					7																	143882559		6	28	34	SO:0001583	missense	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1963A>G	7.37:g.143882559A>G	ENSP00000419539:p.Arg655Gly		A8K871|O95046	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.R655G	ENST00000486333.1	37	c.1963	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	1.204	-0.631620	0.03584	.	.	ENSG00000225932	ENST00000486333	T	0.38722	1.12	.	.	.	.	.	.	.	.	T	0.04363	0.0120	N	0.00013	-2.935	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	6	0.02654	T	1	.	.	.	.	.	655	Q8IX94	CTGE4_HUMAN	G	655	ENSP00000419539:R655G	ENSP00000419539:R655G	R	+	1	2	CTAGE4	143513492	0.344000	0.24827	0.052000	0.19188	0.052000	0.14988	-0.198000	0.09505	-1.345000	0.02214	-1.352000	0.01234	AGG	CTAGE4	-	NULL		0.383	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	HGNC	protein_coding	OTTHUMT00000349970.1	A	NM_198495		143882559	1	no_errors	ENST00000486333	ensembl	human	known	70_37	missense	SNP	0.062	G	G	143882559	A	G	143882559	3	3	24	1	0	0	0	0	1	0	0	0	3998	411	15	5	1965	5	CTAGE4	7	143882559	Missense_Mutation	SNP	A	TCGA-C5-A1MK-01A-11D-A14W-08	43597571	143882559	15256104	135	3556										
INSIG1	3638	genome.wustl.edu	37	chr7	155090262	155090262	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgcctgttgcagaggagcctCgtgctcttctcggttggggt	15	11	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:155090262C>G	ENST00000340368.4	+	2	478	c.267C>G	c.(265-267)ctC>ctG	p.L89L	INSIG1_ENST00000342407.5_Silent_p.L89L|AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	89					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGAGCCTCGTGCTCTTCT	0.657																																																	0													52	48	49					7																	155090262		2202	4299	6501	SO:0001819	synonymous_variant	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.267C>G	7.37:g.155090262C>G			A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	pfam_INSIG_fam	p.L89	ENST00000340368.4	37	c.267	CCDS5938.1	7																																																																																			INSIG1	-	pfam_INSIG_fam		0.657	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	C	NM_198336		155090262	1	no_errors	ENST00000340368	ensembl	human	known	70_37	silent	SNP	0.632	G	G	155090262	C	G	155090262	2	3	24	1	0	0	0	0	0	0	0	1	7785	871	31	1		1	INSIG1	7	155090262	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	11207703	155090262	4048401	136	3557										
DNAJB6	10049	genome.wustl.edu	37	chr7	157160168	157160168	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaagggacccattttcatttGacttctttggtaagttaatc	8	7	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr7:157160168G>C	ENST00000262177.4	+	5	542	c.337G>C	c.(337-339)Gac>Cac	p.D113H	DNAJB6_ENST00000443280.1_Missense_Mutation_p.D113H|DNAJB6_ENST00000429029.2_Missense_Mutation_p.D113H|DNAJB6_ENST00000452797.2_Missense_Mutation_p.D64H	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	113	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTTTCATTTGACTTCTTTGG	0.403																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0													121	112	115					7																	157160168		2203	4300	6503	SO:0001583	missense	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.337G>C	7.37:g.157160168G>C	ENSP00000262177:p.Asp113His		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D113H	ENST00000262177.4	37	c.337	CCDS5946.1	7	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270772	0.40194	.	.	ENSG00000105993	ENST00000441561;ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000443280;ENST00000421417;ENST00000412557	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.58	4.58	0.56647	.	8.063560	0.00357	N	0.000025	D	0.85500	0.5711	M	0.64404	1.975	0.43385	D	0.995496	B;D;D;D;P	0.67145	0.204;0.996;0.983;0.983;0.693	B;D;P;P;P	0.63877	0.099;0.919;0.65;0.65;0.582	T	0.73088	-0.4093	10	0.13108	T	0.6	.	17.7679	0.88483	0.0:0.0:1.0:0.0	.	113;64;113;113;113	E9PH18;B4DN73;A8KAG0;O75190;O75190-2	.;.;.;DNJB6_HUMAN;.	H	113;113;113;113;64;113;113;113	ENSP00000410643:D113H;ENSP00000397556:D113H;ENSP00000262177:D113H;ENSP00000400665:D113H;ENSP00000402270:D64H;ENSP00000396267:D113H;ENSP00000403407:D113H	ENSP00000262177:D113H	D	+	1	0	DNAJB6	156852929	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	6.817000	0.75252	2.250000	0.74265	0.655000	0.94253	GAC	DNAJB6	-	NULL		0.403	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	G			157160168	1	no_errors	ENST00000262177	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157160168	G	C	157160168	3	2	24	1	0	0	0	0	1	0	0	0	4634	1290	45	1	351	1	DNAJB6	7	157160168	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2069906	157160168	1978495	137	3558										
WHSC1L1	54904	genome.wustl.edu	37	chr8	38205669	38205669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tttcccatgatcccttgcatGaaagagaaagagaaatccat	7	9	0	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:38205669G>C	ENST00000317025.8	-	2	538	c.21C>G	c.(19-21)ttC>ttG	p.F7L	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.F7L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.F7L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.F7L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	7					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCCCTTGCATGAAAGAGAAAG	0.433			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													126	117	120					8																	38205669		2203	4300	6503	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.21C>G	8.37:g.38205669G>C	ENSP00000313983:p.Phe7Leu		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.F7L	ENST00000317025.8	37	c.21	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011842	0.93346	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223;ENST00000534155;ENST00000534539	D;D;D;T;T	0.96651	-4.08;-3.98;-3.97;-0.86;0.34	5.56	5.56	0.83823	.	0.000000	0.51477	U	0.000099	D	0.97390	0.9146	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.76494	0.982;0.99;0.999;0.982	D;D;D;D	0.77557	0.952;0.979;0.99;0.952	D	0.97957	1.0335	10	0.87932	D	0	.	19.8909	0.96929	0.0:0.0:1.0:0.0	.	7;7;7;7	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	7	ENSP00000393284:F7L;ENSP00000313983:F7L;ENSP00000434730:F7L;ENSP00000313410:F7L;ENSP00000435422:F7L	ENSP00000313410:F7L	F	-	3	2	WHSC1L1	38324826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.765000	0.95021	0.655000	0.94253	TTC	WHSC1L1	-	NULL		0.433	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	G	NM_023034		38205669	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38205669	G	C	38205669	3	2	24	1	0	0	0	0	1	0	0	0	17394	1281	45	1	4471	1	WHSC1L1	8	38205669	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		38205669	108158353	138	3559										
AGPAT6	137964	genome.wustl.edu	37	chr8	41469775	41469775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgtgatcatcttggccagcGatggctattatgccatggta	11	8	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:41469775G>A	ENST00000396987.3	+	7	1705	c.778G>A	c.(778-780)Gat>Aat	p.D260N	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	260					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTTGGCCAGCGATGGCTATTA	0.502																																																	0													141	122	129					8																	41469775		2203	4300	6503	SO:0001583	missense	137964			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.778G>A	8.37:g.41469775G>A	ENSP00000380184:p.Asp260Asn		Q86V89	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.D260N	ENST00000396987.3	37	c.778	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918841	0.92249	.	.	ENSG00000158669	ENST00000396987	D	0.93133	-3.17	5.03	5.03	0.67393	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	M	0.81942	2.565	0.80722	D	1	B	0.32620	0.378	B	0.41646	0.362	D	0.95035	0.8173	10	0.87932	D	0	.	17.5492	0.87871	0.0:0.0:1.0:0.0	.	260	Q86UL3	GPAT4_HUMAN	N	260	ENSP00000380184:D260N	ENSP00000380184:D260N	D	+	1	0	AGPAT6	41588932	1.000000	0.71417	0.755000	0.31263	0.961000	0.63080	9.612000	0.98347	2.620000	0.88729	0.655000	0.94253	GAT	AGPAT6	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.502	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1	G	NM_178819		41469775	1	no_errors	ENST00000396987	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41469775	G	A	41469775	3	1	24	1	0	0	0	0	1	0	0	0	391	1058	37	1	800	1	AGPAT6	8	41469775	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3264106	41469775	104894247	139	3560										
CHD7	55636	genome.wustl.edu	37	chr8	61765139	61765139	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	accctgtgaaacagcaatttGactggaaccaatttagagcc	8	10	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:61765139G>C	ENST00000423902.2	+	30	6456	c.5977G>C	c.(5977-5979)Gac>Cac	p.D1993H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1993					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACAGCAATTTGACTGGAACCA	0.408																																																	0													65	59	61					8																	61765139		1835	4090	5925	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5977G>C	8.37:g.61765139G>C	ENSP00000392028:p.Asp1993His		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1993H	ENST00000423902.2	37	c.5977	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207392	0.79240	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90788	-2.73	5.48	5.48	0.80851	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	M	0.69358	2.11	0.80722	D	1	P	0.42584	0.784	B	0.43155	0.41	D	0.90310	0.4336	10	0.37606	T	0.19	-25.2651	19.3552	0.94410	0.0:0.0:1.0:0.0	.	1993	Q9P2D1	CHD7_HUMAN	H	1993	ENSP00000392028:D1993H	ENSP00000307304:D1993H	D	+	1	0	CHD7	61927693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	GAC	CHD7	-	NULL		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61765139	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61765139	G	C	61765139	3	2	24	1	0	0	0	0	1	0	0	0	3335	1290	45	1	6091	1	CHD7	8	61765139	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	20295364	61765139	84598883	140	3561										
CRH	1392	genome.wustl.edu	37	chr8	67089290	67089290	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggtgcctcctggtggccgccGagggcattcctagcgccgcg	16	15	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:67089290G>C	ENST00000276571.3	-	2	869	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	141					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGTGGCCGCCGAGGGCATTCC	0.672											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25	20	22					8																	67089290		2203	4299	6502	SO:0001819	synonymous_variant	1392				CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.423C>G	8.37:g.67089290G>C		1096	B3KQS4	Silent	SNP	pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF	p.L141	ENST00000276571.3	37	c.423	CCDS6188.1	8																																																																																			CRH	-	NULL		0.672	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRH	HGNC	protein_coding	OTTHUMT00000378926.1	G	NM_000756		67089290	-1	no_errors	ENST00000276571	ensembl	human	known	70_37	silent	SNP	0.039	C	C	67089290	G	C	67089290	2	2	24	1	0	0	0	0	0	0	0	1	3874	1045	37	1		1	CRH	8	67089290	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5324151	67089290	79274732	141	3562										
LY96	23643	genome.wustl.edu	37	chr8	74939055	74939055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acaacaatatcattctccttCaagggaataaaattttctaa	3	8	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:74939055C>A	ENST00000284818.2	+	4	454	c.363C>A	c.(361-363)ttC>ttA	p.F121L	LY96_ENST00000518893.1_Missense_Mutation_p.F91L	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	121	Interaction with lipopolysaccharide.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CATTCTCCTTCAAGGGAATAA	0.303																																					GBM(131;1357 1748 34893 50149 52212)												0													83	80	81					8																	74939055		2203	4298	6501	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.363C>A	8.37:g.74939055C>A	ENSP00000284818:p.Phe121Leu		B3Y6A5|E5RJJ7	Missense_Mutation	SNP	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog	p.F121L	ENST00000284818.2	37	c.363	CCDS6216.1	8	.	.	.	.	.	.	.	.	.	.	C	8.138	0.784555	0.16189	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.71579	-0.58;-0.58	3.64	1.85	0.25348	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.604873	0.15881	N	0.240052	T	0.68869	0.3048	M	0.76838	2.35	0.24198	N	0.995522	D	0.57899	0.981	P	0.48770	0.589	T	0.58730	-0.7585	10	0.10902	T	0.67	-11.9778	5.9752	0.19375	0.0:0.7633:0.0:0.2367	.	121	Q9Y6Y9	LY96_HUMAN	L	121;91	ENSP00000284818:F121L;ENSP00000430533:F91L	ENSP00000284818:F121L	F	+	3	2	LY96	75101609	0.708000	0.27876	0.505000	0.27651	0.002000	0.02628	1.650000	0.37292	0.537000	0.28751	-0.136000	0.14681	TTC	LY96	-	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog		0.303	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY96	HGNC	protein_coding	OTTHUMT00000379032.2	C	NM_015364		74939055	1	no_errors	ENST00000284818	ensembl	human	known	70_37	missense	SNP	0.589	A	A	74939055	C	A	74939055	3	1	24	1	0	0	0	0	1	0	0	0	9125	825	29	3	377	3	LY96	8	74939055	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7849765	74939055	71424967	142	3563										
UBR5	51366	genome.wustl.edu	37	chr8	103299757	103299757	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttcactatcactttctgtttCagctgctgctaacaagtcca	5	12	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:103299757C>T	ENST00000520539.1	-	37	5467	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K	UBR5_ENST00000220959.4_Missense_Mutation_p.E1621K|UBR5_ENST00000521922.1_Missense_Mutation_p.E1615K|UBR5_ENST00000519528.1_5'UTR	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1621					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTCTGTTTCAGCTGCTGCT	0.408																																					Ovarian(131;96 1741 5634 7352 27489)												0													191	144	160					8																	103299757		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4861G>A	8.37:g.103299757C>T	ENSP00000429084:p.Glu1621Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E1621K	ENST00000520539.1	37	c.4861	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.057674	0.97241	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53423	0.62;0.62;0.62	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	L	0.49778	1.585	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.64015	-0.6506	10	0.72032	D	0.01	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	1615;1621	E7EMW7;O95071	.;UBR5_HUMAN	K	1621;1621;1615	ENSP00000429084:E1621K;ENSP00000220959:E1621K;ENSP00000427819:E1615K	ENSP00000220959:E1621K	E	-	1	0	UBR5	103368933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.830000	0.97506	0.655000	0.94253	GAA	UBR5	-	NULL		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103299757	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103299757	C	T	103299757	3	4	24	1	0	0	0	0	1	0	0	0	16936	835	29	1	3630	1	UBR5	8	103299757	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	28360702	103299757	43064265	143	3564										
ATAD2	29028	genome.wustl.edu	37	chr8	124383164	124383164	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cacactgccttcttgattatCagttgtttcttcatcagttc	5	11	5	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:124383164C>T	ENST00000287394.5	-	6	813	c.706G>A	c.(706-708)Gat>Aat	p.D236N	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	236					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTGATTATCAGTTGTTTCT	0.303																																																	0													166	153	158					8																	124383164		2202	4300	6502	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.706G>A	8.37:g.124383164C>T	ENSP00000287394:p.Asp236Asn		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.D236N	ENST00000287394.5	37	c.706	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668299	0.67814	.	.	ENSG00000156802	ENST00000287394	T	0.28895	1.59	5.32	5.32	0.75619	.	0.809322	0.12083	N	0.501132	T	0.46367	0.1389	L	0.48362	1.52	0.80722	D	1	D;D	0.63046	0.981;0.992	P;P	0.58210	0.744;0.835	T	0.13229	-1.0517	10	0.31617	T	0.26	-19.9741	17.7784	0.88516	0.0:1.0:0.0:0.0	.	66;236	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	N	236	ENSP00000287394:D236N	ENSP00000287394:D236N	D	-	1	0	ATAD2	124452345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	2.492000	0.84095	0.484000	0.47621	GAT	ATAD2	-	NULL		0.303	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124383164	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124383164	C	T	124383164	3	4	24	1	0	0	0	0	1	0	0	0	1072	826	29	1	3558	1	ATAD2	8	124383164	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	21083407	124383164	21980858	144	3565										
KCNQ3	3786	genome.wustl.edu	37	chr8	133492621	133492621	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccggccccgagcgccaaggtGacttgctccacgtcgccggg	14	17	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:133492621G>A	ENST00000388996.4	-	1	579	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KCNQ3_ENST00000519445.1_Silent_p.V53V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	53					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCGCCAAGGTGACTTGCTCCA	0.781																																																	0													7	9	8					8																	133492621		2124	4162	6286	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.159C>T	8.37:g.133492621G>A			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.V53	ENST00000388996.4	37	c.159	CCDS34943.1	8																																																																																			KCNQ3	-	NULL		0.781	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	G	NM_004519		133492621	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	silent	SNP	1.000	A	A	133492621	G	A	133492621	2	1	24	1	0	0	0	0	0	0	0	1	8104	1277	45	1		1	KCNQ3	8	133492621	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	9109457	133492621	12871401	145	3566										
ZNF34	80778	genome.wustl.edu	37	chr8	145999086	145999086	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcattacatttatagggtttCtctccagtgtgaattctctg	7	8	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr8:145999086C>A	ENST00000343459.4	-	6	1313	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ZNF34_ENST00000429371.2_Missense_Mutation_p.E395D			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TATAGGGTTTCTCTCCAGTGT	0.423																																																	0													47	51	50					8																	145999086		2194	4296	6490	SO:0001583	missense	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1248G>T	8.37:g.145999086C>A	ENSP00000341528:p.Glu416Asp		D3DWN1|Q9BSZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E416D	ENST00000343459.4	37	c.1248	CCDS47945.1	8	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197592	0.58126	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	T;T	0.26810	1.71;1.71	3.53	0.419	0.16438	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32736	N	0.005706	T	0.32010	0.0815	L	0.37507	1.11	0.26435	N	0.975878	D;D	0.58970	0.984;0.984	P;D	0.63597	0.833;0.916	T	0.09164	-1.0687	10	0.87932	D	0	.	7.7463	0.28871	0.0:0.5672:0.0:0.4328	.	375;416	E7EN25;Q8IZ26	.;ZNF34_HUMAN	D	375;345;416;395	ENSP00000341528:E416D;ENSP00000396894:E395D	ENSP00000341528:E416D	E	-	3	2	ZNF34	145969890	0.143000	0.22626	0.998000	0.56505	0.996000	0.88848	-0.174000	0.09839	0.056000	0.16144	0.561000	0.74099	GAG	ZNF34	-	pfscan_Znf_C2H2		0.423	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	C	NM_030580		145999086	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145999086	C	A	145999086	3	1	24	1	0	0	0	0	1	0	0	0	17886	912	32	3	438	3	ZNF34	8	145999086	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	12506465	145999086	364936	146	3567										
DOCK8	81704	genome.wustl.edu	37	chr9	418177	418177	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcagggaataatttcaatttGaaaacaagtggaatagtgct	10	4	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:418177G>A	ENST00000453981.1	+	30	3922	c.3810G>A	c.(3808-3810)ttG>ttA	p.L1270L	DOCK8_ENST00000432829.2_Silent_p.L1202L|DOCK8_ENST00000382329.1_Silent_p.L737L|DOCK8_ENST00000469391.1_Silent_p.L1170L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1270					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTCAATTTGAAAACAAGTG	0.438																																																	0													282	272	275					9																	418177		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3810G>A	9.37:g.418177G>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L1270	ENST00000453981.1	37	c.3810	CCDS6440.2	9																																																																																			DOCK8	-	NULL		0.438	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		418177	1	no_errors	ENST00000453981	ensembl	human	known	70_37	silent	SNP	1.000	A	A	418177	G	A	418177	2	1	24	1	0	0	0	0	0	0	0	1	4703	1281	45	1		1	DOCK8	9	418177	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		418177	140795254	147	3568										
DMRT2	10655	genome.wustl.edu	37	chr9	1053808	1053808	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agagcccccagtttgctggcCaaaagcattttagaaggtaa	10	9	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:1053808C>G	ENST00000358146.2	+	2	612	c.612C>G	c.(610-612)gcC>gcG	p.A204A	DMRT2_ENST00000259622.6_Silent_p.A204A|DMRT2_ENST00000382251.3_Silent_p.A204A|DMRT2_ENST00000382255.3_Silent_p.A204A|DMRT2_ENST00000412350.2_Silent_p.A204A|DMRT2_ENST00000302441.6_Silent_p.A204A			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	204					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GTTTGCTGGCCAAAAGCATTT	0.418																																																	0													70	73	72					9																	1053808		2203	4300	6503	SO:0001819	synonymous_variant	10655			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.612C>G	9.37:g.1053808C>G			B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.A204	ENST00000358146.2	37	c.612	CCDS6444.1	9																																																																																			DMRT2	-	NULL		0.418	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	C	NM_006557		1053808	1	no_errors	ENST00000302441	ensembl	human	known	70_37	silent	SNP	1.000	G	G	1053808	C	G	1053808	2	3	24	1	0	0	0	0	0	0	0	1	4596	581	21	4		4	DMRT2	9	1053808	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	635631	1053808	140159623	148	3569										
RANBP6	26953	genome.wustl.edu	37	chr9	6013755	6013755	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttccaagaattttacacattCtagcccatgctgaaaccatg	5	11	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:6013755C>G	ENST00000259569.5	-	1	1863	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	618					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTACACATTCTAGCCCATGC	0.393																																																	0													148	151	150					9																	6013755		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1853G>C	9.37:g.6013755C>G	ENSP00000259569:p.Arg618Thr		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R618T	ENST00000259569.5	37	c.1853	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235638	0.58886	.	.	ENSG00000137040	ENST00000259569	T	0.22945	1.93	4.11	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.61515	0.2353	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71603	-0.4543	10	0.42905	T	0.14	-8.4697	14.2719	0.66157	0.0:1.0:0.0:0.0	.	206;618	B4DTX6;O60518	.;RNBP6_HUMAN	T	618	ENSP00000259569:R618T	ENSP00000259569:R618T	R	-	2	0	RANBP6	6003755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.389000	0.79806	2.293000	0.77203	0.650000	0.86243	AGA	RANBP6	-	superfamily_ARM-type_fold		0.393	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	C	NM_012416		6013755	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6013755	C	G	6013755	3	3	24	1	0	0	0	0	1	0	0	0	13061	913	32	1	1468	1	RANBP6	9	6013755	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4959947	6013755	135199676	149	3570										
SIGMAR1	10280	genome.wustl.edu	37	chr9	34637231	34637231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	actgacccgagtggccgcggGagcccaaggcggtgccgaag	17	13	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:34637231G>C	ENST00000277010.4	-	2	411	c.338C>G	c.(337-339)tCc>tGc	p.S113C	SIGMAR1_ENST00000378892.1_Missense_Mutation_p.S24C|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.S113C	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	113					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	GTGGCCGCGGGAGCCCAAGGC	0.652																																																	0													18	22	21					9																	34637231		2180	4277	6457	SO:0001583	missense	10280			BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.338C>G	9.37:g.34637231G>C	ENSP00000277010:p.Ser113Cys		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	pfam_ERG2_sigma1_rcpt-like	p.S113C	ENST00000277010.4	37	c.338	CCDS6562.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.264993	0.95399	.	.	ENSG00000147955	ENST00000378892;ENST00000277010;ENST00000360710;ENST00000477726	T;T;T	0.66280	-0.2;-0.2;-0.2	5.04	5.04	0.67666	.	0.051523	0.85682	D	0.000000	T	0.72285	0.3441	L	0.43152	1.355	0.50313	D	0.999864	D;D;D;D	0.67145	0.98;0.989;0.996;0.969	D;P;D;P	0.65443	0.911;0.87;0.935;0.794	T	0.74999	-0.3472	10	0.87932	D	0	-25.8201	17.1328	0.86730	0.0:0.0:1.0:0.0	.	113;113;113;93	B4DR71;A2A3U5;Q99720;Q99720-2	.;.;SGMR1_HUMAN;.	C	24;113;79;113	ENSP00000368170:S24C;ENSP00000277010:S113C;ENSP00000420022:S113C	ENSP00000277010:S113C	S	-	2	0	SIGMAR1	34627231	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.550000	0.98110	2.610000	0.88304	0.561000	0.74099	TCC	SIGMAR1	-	pfam_ERG2_sigma1_rcpt-like		0.652	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGMAR1	HGNC	protein_coding	OTTHUMT00000052204.1	G	NM_005866		34637231	-1	no_errors	ENST00000277010	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34637231	G	C	34637231	3	2	24	1	0	0	0	0	1	0	0	0	14346	1174	41	1	345	1	SIGMAR1	9	34637231	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	28623476	34637231	106576200	150	3571										
CNTNAP3	79937	genome.wustl.edu	37	chr9	39176011	39176011	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atccactccattataataaaGattttctaaacacccatgaa	2	10	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:39176011G>A	ENST00000297668.6	-	7	1079	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L248F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	336	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTATAATAAAGATTTTCTAAA	0.403																																																	0													42	47	45					9																	39176011		2200	4297	6497	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1006C>T	9.37:g.39176011G>A	ENSP00000297668:p.Leu336Phe		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L336F	ENST00000297668.6	37	c.1006	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	8.454	0.853776	0.17106	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	3.09	-0.0199	0.13958	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.85630	0.5741	M	0.81239	2.535	0.29430	N	0.859949	B;P;B;B;B	0.36712	0.132;0.566;0.436;0.238;0.098	B;P;B;B;B	0.47470	0.329;0.548;0.227;0.316;0.151	T	0.79926	-0.1597	9	0.56958	D	0.05	.	7.3832	0.26868	0.0:0.1499:0.3914:0.4587	.	336;336;336;336;336	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	F	336;336;248;336;336;248	ENSP00000297668:L336F;ENSP00000366884:L336F;ENSP00000350863:L248F;ENSP00000320728:L336F;ENSP00000366887:L336F	ENSP00000297668:L336F	L	-	1	0	CNTNAP3	39166011	1.000000	0.71417	0.780000	0.31762	0.277000	0.26821	1.080000	0.30779	-0.126000	0.11682	-0.378000	0.06908	CTT	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.403	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	G	NM_033655		39176011	-1	no_errors	ENST00000297668	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39176011	G	A	39176011	3	1	24	1	0	0	0	0	1	0	0	0	3653	942	33	1	2932	1	CNTNAP3	9	39176011	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	4538780	39176011	102037420	151	3572										
ANKS6	203286	genome.wustl.edu	37	chr9	101546366	101546366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctgctagcatcagtggcgtCgccccgtccccattgaccaa	10	16	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:101546366C>T	ENST00000353234.4	-	4	1028	c.981G>A	c.(979-981)gcG>gcA	p.A327A	ANKS6_ENST00000540940.1_Silent_p.A132A|ANKS6_ENST00000375019.2_Silent_p.A26A|ANKS6_ENST00000375018.1_Silent_p.A327A			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	327						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCAGTGGCGTCGCCCCGTCCC	0.597																																																	0													62	68	66					9																	101546366		2156	4251	6407	SO:0001819	synonymous_variant	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.981G>A	9.37:g.101546366C>T			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.A327	ENST00000353234.4	37	c.981	CCDS43856.1	9																																																																																			ANKS6	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	C	NM_173551		101546366	-1	no_errors	ENST00000375018	ensembl	human	known	70_37	silent	SNP	0.206	T	T	101546366	C	T	101546366	2	4	24	1	0	0	0	0	0	0	0	1	692	871	31	1		1	ANKS6	9	101546366	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	62370355	101546366	39667065	152	3573										
SMC2	10592	genome.wustl.edu	37	chr9	106875709	106875709	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agctctagaagctgtaaaaaGacttaaagaaaaacttgaag	8	5	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:106875709G>A	ENST00000286398.7	+	11	1655	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K	SMC2_ENST00000374793.3_Missense_Mutation_p.R456K|SMC2_ENST00000303219.8_Missense_Mutation_p.R456K|SMC2_ENST00000374787.3_Missense_Mutation_p.R456K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	456					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GCTGTAAAAAGACTTAAAGAA	0.333																																																	0													55	57	56					9																	106875709		2203	4298	6501	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1367G>A	9.37:g.106875709G>A	ENSP00000286398:p.Arg456Lys		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.R456K	ENST00000286398.7	37	c.1367	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139480	0.06669	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78364	-1.07;-1.07;-1.17;-1.07	4.86	2.59	0.31030	RecF/RecN/SMC (1);	0.302605	0.40469	N	0.001082	T	0.33904	0.0879	N	0.00182	-1.905	0.22989	N	0.998465	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.47535	-0.9110	10	0.02654	T	1	-12.4162	7.6139	0.28145	0.8487:0.0:0.1513:0.0	.	456;456;456	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	K	456	ENSP00000286398:R456K;ENSP00000363925:R456K;ENSP00000306152:R456K;ENSP00000363919:R456K	ENSP00000286398:R456K	R	+	2	0	SMC2	105915530	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	1.589000	0.36644	0.390000	0.25115	0.650000	0.86243	AGA	SMC2	-	pfam_RecF/RecN/SMC		0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	G			106875709	1	no_errors	ENST00000286398	ensembl	human	known	70_37	missense	SNP	0.994	A	A	106875709	G	A	106875709	3	1	24	1	0	0	0	0	1	0	0	0	14813	942	33	1	1405	1	SMC2	9	106875709	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5329343	106875709	34337722	153	3574										
OR13C9	286362	genome.wustl.edu	37	chr9	107379601	107379601	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tccttgtttctaagactgtaGattaaaggattcatcatggg	9	6	3	2	rs369126446		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:107379601G>C	ENST00000259362.1	-	1	884	c.885C>G	c.(883-885)atC>atG	p.I295M		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAAGACTGTAGATTAAAGGAT	0.393																																																	0													167	161	163					9																	107379601		2203	4298	6501	SO:0001583	missense	286362				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.885C>G	9.37:g.107379601G>C	ENSP00000259362:p.Ile295Met		Q6IFL2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I295M	ENST00000259362.1	37	c.885	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096249	0.36952	.	.	ENSG00000136839	ENST00000259362	T	0.57273	0.41	4.5	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000137	T	0.77150	0.4088	H	0.97564	4.03	0.22500	N	0.999049	D	0.89917	1.0	D	0.72625	0.978	T	0.67300	-0.5705	10	0.87932	D	0	.	6.0667	0.19868	0.0949:0.0:0.3637:0.5413	.	295	Q8NGT0	O13C9_HUMAN	M	295	ENSP00000259362:I295M	ENSP00000259362:I295M	I	-	3	3	OR13C9	106419422	0.964000	0.33143	0.999000	0.59377	0.894000	0.52154	0.070000	0.14573	0.104000	0.17725	-0.152000	0.13540	ATC	OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.393	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	G			107379601	-1	no_errors	ENST00000259362	ensembl	human	known	70_37	missense	SNP	0.989	C	C	107379601	G	C	107379601	3	2	24	1	0	0	0	0	1	0	0	0	10963	932	33	1	74	1	OR13C9	9	107379601	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	503892	107379601	33833830	154	3575										
CEP110	11064	genome.wustl.edu	37	chr9	123917084	123917084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atcatgaagatattgtagatGaaattgagtgcattgagaag	11	2	1	6			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:123917084G>C	ENST00000373855.1	+	27	4518	c.4258G>C	c.(4258-4260)Gaa>Caa	p.E1420Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E868Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1420Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E868Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1420					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TATTGTAGATGAAATTGAGTG	0.388																																																	0													104	97	99					9																	123917084		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4258G>C	9.37:g.123917084G>C	ENSP00000362962:p.Glu1420Gln		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1420Q	ENST00000373855.1	37	c.4258	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764590	0.89932	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.79653	2.53;2.53;2.53;2.53;-1.29	5.58	5.58	0.84498	.	.	.	.	.	D	0.88396	0.6425	M	0.65498	2.005	0.51233	D	0.999919	D	0.76494	0.999	D	0.80764	0.994	D	0.84944	0.0867	9	0.25106	T	0.35	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	1420	Q7Z7A1	CNTRL_HUMAN	Q	1420;1420;1420;176;868;868;89;89	ENSP00000362962:E1420Q;ENSP00000238341:E1420Q;ENSP00000362956:E868Q;ENSP00000362953:E868Q;ENSP00000413014:E89Q	ENSP00000238341:E1420Q	E	+	1	0	CNTRL	122956905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.782000	0.85680	2.769000	0.95229	0.655000	0.94253	GAA	CNTRL	-	NULL		0.388	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123917084	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123917084	G	C	123917084	3	2	24	1	0	0	0	0	1	0	0	0	3250	1291	45	1	4356	1	CEP110	9	123917084	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	16537483	123917084	17296347	155	3576										
SCAI	286205	genome.wustl.edu	37	chr9	127828300	127828300	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgttgatatctttccccttGagattgtgaatgactgctat	8	7	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:127828300G>A	ENST00000336505.6	-	3	157				SCAI_ENST00000373549.4_Nonsense_Mutation_p.Q46*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ctttccccttgagattgtgaa	0.289																																																	0													80	77	78					9																	127828300		1809	4059	5868	SO:0001627	intron_variant	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.99-10014C>T	9.37:g.127828300G>A			Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Nonsense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.Q46*	ENST00000336505.6	37	c.136	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348975	0.41599	.	.	ENSG00000173611	ENST00000373549	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	46	.	ENSP00000362650:Q46X	Q	-	1	0	SCAI	126868121	0.397000	0.25270	0.350000	0.25708	0.590000	0.36582	0.552000	0.23376	0.545000	0.28902	0.121000	0.15741	CAA	SCAI	-	pirsf_UCP013022		0.289	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	G	NM_173690		127828300	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	nonsense	SNP	0.422	A	A	127828300	G	A	127828300	1	1	24	0	1	0	0	0	0	0	0	0	13899	1299	45	1		1	SCAI	9	127828300	Intron	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3911216	127828300	13385131	156	3577										
PKN3	29941	genome.wustl.edu	37	chr9	131476870	131476870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcccaagaagacccccttggGtgaagagatgacacccccac	10	15	0	5			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:131476870G>A	ENST00000291906.4	+	12	1904	c.1511G>A	c.(1510-1512)gGt>gAt	p.G504D		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	504	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCCCCTTGGGTGAAGAGATG	0.607																																																	0													62	64	63					9																	131476870		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1511G>A	9.37:g.131476870G>A	ENSP00000291906:p.Gly504Asp		Q9UM03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.G504D	ENST00000291906.4	37	c.1511	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	G	9.668	1.145881	0.21288	.	.	ENSG00000160447	ENST00000291906	T	0.22539	1.95	4.91	-2.55	0.06288	.	.	.	.	.	T	0.11922	0.0290	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.21708	0.036	T	0.36625	-0.9740	9	0.28530	T	0.3	.	0.8584	0.01187	0.2607:0.1275:0.3913:0.2206	.	504	Q6P5Z2	PKN3_HUMAN	D	504	ENSP00000291906:G504D	ENSP00000291906:G504D	G	+	2	0	PKN3	130516691	0.967000	0.33354	0.013000	0.15412	0.213000	0.24496	0.205000	0.17356	-0.103000	0.12175	-0.300000	0.09419	GGT	PKN3	-	NULL		0.607	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	G	NM_013355		131476870	1	no_errors	ENST00000291906	ensembl	human	known	70_37	missense	SNP	0.003	A	A	131476870	G	A	131476870	3	1	24	1	0	0	0	0	1	0	0	0	12005	1261	44	4	1557	4	PKN3	9	131476870	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3648570	131476870	9736561	157	3578										
CACNA1B	774	genome.wustl.edu	37	chr9	140970329	140970329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caaccgccacaacaacttccGgacgtttttgcaagccctga	7	15	0	1	rs373622271		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr9:140970329G>A	ENST00000371372.1	+	35	5061	c.4916G>A	c.(4915-4917)cGg>cAg	p.R1639Q	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1639Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1637Q|CACNA1B_ENST00000371365.2_Missense_Mutation_p.R3Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1640Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1638Q|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R833Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1639					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AACAACTTCCGGACGTTTTTG	0.547																																																	0								G	GLN/ARG	0,4004		0,0,2002	62	68	66		4916	2.2	1	9		66	1,8347		0,1,4173	no	missense	CACNA1B	NM_000718.3	43	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	1639/2340	140970329	1,12351	2002	4174	6176	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4916G>A	9.37:g.140970329G>A	ENSP00000360423:p.Arg1639Gln		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1640Q	ENST00000371372.1	37	c.4919	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191746	0.09547	0.0	1.2E-4	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365	D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.23	2.25	0.28309	.	0.143657	0.47852	N	0.000204	D	0.90789	0.7108	N	0.10916	0.065	0.58432	D	0.999994	P;P	0.51933	0.949;0.949	P;P	0.45681	0.49;0.49	D	0.86523	0.1817	10	0.08179	T	0.78	.	9.4411	0.38668	0.3022:0.0:0.6978:0.0	.	1638;1637	B1AQK7;B1AQK6	.;.	Q	1639;1639;833;1637;1638;1640;3	ENSP00000360423:R1639Q;ENSP00000277551:R1639Q;ENSP00000277549:R833Q;ENSP00000360414:R1637Q;ENSP00000360408:R1638Q;ENSP00000360406:R1640Q;ENSP00000360416:R3Q	ENSP00000277549:R833Q	R	+	2	0	CACNA1B	140090150	0.998000	0.40836	0.984000	0.44739	0.538000	0.34931	2.644000	0.46613	0.252000	0.21531	-0.345000	0.07892	CGG	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1		0.547	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140970329	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	0.959	A	A	140970329	G	A	140970329	3	1	24	1	0	0	0	0	1	0	0	0	2544	1116	39	2	5050	2	CACNA1B	9	140970329	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	9493459	140970329	243102	158	3579										
APBB1IP	54518	genome.wustl.edu	37	chr10	26856371	26856371	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cggggagcaagatttcatgtCagacctcatgaaagctttgc	11	9	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:26856371C>G	ENST00000376236.4	+	15	2410	c.1955C>G	c.(1954-1956)tCa>tGa	p.S652*		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	652					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GATTTCATGTCAGACCTCATG	0.627																																																	0													48	45	46					10																	26856371		2203	4300	6503	SO:0001587	stop_gained	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1955C>G	10.37:g.26856371C>G	ENSP00000365411:p.Ser652*		Q8IWS8|Q8IYL7|Q8IZZ7	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.S652*	ENST00000376236.4	37	c.1955	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	41	9.022907	0.99038	.	.	ENSG00000077420	ENST00000376236	.	.	.	5.47	5.47	0.80525	.	0.122752	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9019	0.88906	0.0:1.0:0.0:0.0	.	.	.	.	X	652	.	ENSP00000365411:S652X	S	+	2	0	APBB1IP	26896377	1.000000	0.71417	0.970000	0.41538	0.401000	0.30781	6.077000	0.71275	2.579000	0.87056	0.655000	0.94253	TCA	APBB1IP	-	NULL		0.627	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	C	NM_019043		26856371	1	no_errors	ENST00000376236	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	26856371	C	G	26856371	4	3	24	1	0	0	0	0	0	1	0	0	760	838	29	1	2005	1	APBB1IP	10	26856371	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		26856371	108678376	159	3580										
CTNNA3	29119	genome.wustl.edu	37	chr10	69407184	69407184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tattaatacctggattatgaGaggctccagtagcttctcca	8	9	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:69407184G>C	ENST00000433211.2	-	2	262	c.88C>G	c.(88-90)Ctc>Gtc	p.L30V	CTNNA3_ENST00000373744.4_Missense_Mutation_p.L30V|CTNNA3_ENST00000545309.1_Missense_Mutation_p.L30V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGGATTATGAGAGGCTCCAGT	0.378																																																	0													121	117	118					10																	69407184		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.88C>G	10.37:g.69407184G>C	ENSP00000389714:p.Leu30Val			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L30V	ENST00000433211.2	37	c.88	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037262	0.75617	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000033	T	0.56247	0.1972	M	0.71036	2.16	0.43574	D	0.995907	D;D;D	0.89917	0.997;1.0;0.979	D;D;D	0.80764	0.992;0.994;0.973	T	0.57820	-0.7745	10	0.87932	D	0	-8.0762	16.7673	0.85527	0.0:0.0:1.0:0.0	.	30;30;30	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	V	30	ENSP00000389714:L30V;ENSP00000362849:L30V;ENSP00000441444:L30V;ENSP00000330570:L30V	ENSP00000330570:L30V	L	-	1	0	CTNNA3	69077190	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.057000	0.41365	2.688000	0.91661	0.655000	0.94253	CTC	CTNNA3	-	pfam_Vinculin/catenin,prints_Alpha_catenin		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		69407184	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69407184	G	C	69407184	3	2	24	1	0	0	0	0	1	0	0	0	4019	942	33	1	2667	1	CTNNA3	10	69407184	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	42550813	69407184	66127563	160	3581										
PBLD	64081	genome.wustl.edu	37	chr10	70043943	70043943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cataaccacctctaggctgtCagtgtgccctctaaaacaac	6	14	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:70043943C>T	ENST00000358769.2	-	10	1060	c.858G>A	c.(856-858)ctG>ctA	p.L286L	PBLD_ENST00000309049.4_Silent_p.L286L|PBLD_ENST00000336578.1_Silent_p.L253L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	286					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCTAGGCTGTCAGTGTGCCCT	0.493																																																	0													212	175	187					10																	70043943		2203	4300	6503	SO:0001819	synonymous_variant	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.858G>A	10.37:g.70043943C>T			A8MZJ3|C9JIM0|Q9HCC2	Silent	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.L286	ENST00000358769.2	37	c.858	CCDS7277.2	10																																																																																			PBLD	-	pirsf_Phenazine_PhzF		0.493	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	C	NM_022129		70043943	-1	no_errors	ENST00000309049	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70043943	C	T	70043943	2	4	24	1	0	0	0	0	0	0	0	1	11513	813	29	1		1	PBLD	10	70043943	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	636759	70043943	65490804	161	3582										
PBLD	64081	genome.wustl.edu	37	chr10	70066543	70066543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctaggaggcaaacagcagcaGgattcccacgaaatgctctt	10	11	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:70066543G>A	ENST00000358769.2	-	2	261	c.59C>T	c.(58-60)cCt>cTt	p.P20L	PBLD_ENST00000309049.4_Missense_Mutation_p.P20L|PBLD_ENST00000432941.1_Missense_Mutation_p.P20L|PBLD_ENST00000495025.2_Missense_Mutation_p.P20L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	20					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AACAGCAGCAGGATTCCCACG	0.368																																																	0													91	85	87					10																	70066543		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.59C>T	10.37:g.70066543G>A	ENSP00000351619:p.Pro20Leu		A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.P20L	ENST00000358769.2	37	c.59	CCDS7277.2	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573023	0.86542	.	.	ENSG00000108187	ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.996	D	0.83801	0.0236	10	0.87932	D	0	-13.7435	16.6073	0.84834	0.0:0.0:1.0:0.0	.	20;20;20	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	L	20	ENSP00000351619:P20L;ENSP00000308466:P20L;ENSP00000395534:P20L;ENSP00000277795:P20L	ENSP00000277795:P20L	P	-	2	0	PBLD	69736549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.996000	0.63914	2.649000	0.89929	0.655000	0.94253	CCT	PBLD	-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.368	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	G	NM_022129		70066543	-1	no_errors	ENST00000309049	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70066543	G	A	70066543	3	1	24	1	0	0	0	0	1	0	0	0	11513	1000	35	4	932	4	PBLD	10	70066543	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	22600	70066543	65468204	162	3583										
HKDC1	80201	genome.wustl.edu	37	chr10	70992572	70992572	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggtccaagttccgagtgctGaaggtgcaagtcgctgaaga	15	8	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:70992572G>A	ENST00000354624.5	+	3	412	c.279G>A	c.(277-279)ctG>ctA	p.L93L	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Silent_p.L93L	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	93	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCCGAGTGCTGAAGGTGCAAG	0.498																																																	0													140	132	135					10																	70992572		2203	4300	6503	SO:0001819	synonymous_variant	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.279G>A	10.37:g.70992572G>A			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L93	ENST00000354624.5	37	c.279	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_N		0.498	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	G	NM_025130		70992572	1	no_errors	ENST00000354624	ensembl	human	known	70_37	silent	SNP	0.992	A	A	70992572	G	A	70992572	2	1	24	1	0	0	0	0	0	0	0	1	7213	1277	45	1		1	HKDC1	10	70992572	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	926029	70992572	64542175	163	3584										
TYSND1	219743	genome.wustl.edu	37	chr10	71899836	71899836	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agcaccgtgatgggaatgctGaagttcaggtgggggtaggt	18	5	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:71899836G>C	ENST00000287078.6	-	4	1544	c.1545C>G	c.(1543-1545)ttC>ttG	p.F515L	TYSND1_ENST00000335494.5_3'UTR|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	515	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						TGGGAATGCTGAAGTTCAGGT	0.597																																																	0													133	112	119					10																	71899836		2203	4300	6503	SO:0001583	missense	219743			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1545C>G	10.37:g.71899836G>C	ENSP00000287078:p.Phe515Leu		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1	p.F515L	ENST00000287078.6	37	c.1545	CCDS31213.1	10	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780514	0.90195	.	.	ENSG00000156521	ENST00000287078	D	0.89485	-2.52	5.85	5.85	0.93711	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93893	0.7181	10	0.54805	T	0.06	-29.0793	18.7214	0.91697	0.0:0.0:1.0:0.0	.	515	Q2T9J0	TYSD1_HUMAN	L	515	ENSP00000287078:F515L	ENSP00000287078:F515L	F	-	3	2	TYSND1	71569842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.688000	0.61715	2.773000	0.95371	0.650000	0.86243	TTC	TYSND1	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1		0.597	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYSND1	HGNC	protein_coding	OTTHUMT00000048483.1	G	NM_173555		71899836	-1	no_errors	ENST00000287078	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71899836	G	C	71899836	3	2	24	1	0	0	0	0	1	0	0	0	16848	1281	45	1	159	1	TYSND1	10	71899836	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	907264	71899836	63634911	164	3585										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72462221	72462221	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctgacggggacctgcacaatGaaggtaggctgtaggtaggg	17	7	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:72462221G>A	ENST00000373207.1	+	3	676	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E226K	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	226					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGCACAATGAAGGTAGGCT	0.617																																																	0													55	56	56					10																	72462221		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.676G>A	10.37:g.72462221G>A	ENSP00000362303:p.Glu226Lys		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E226K	ENST00000373207.1	37	c.676	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541139	0.65085	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61980	0.06;0.08	5.94	5.94	0.96194	.	0.180058	0.35646	N	0.003070	T	0.56601	0.1996	L	0.48362	1.52	0.52099	D	0.999948	B;B	0.20671	0.009;0.047	B;B	0.18561	0.009;0.022	T	0.51710	-0.8671	10	0.13470	T	0.59	.	19.1347	0.93422	0.0:0.0:1.0:0.0	.	226;226	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	K	226	ENSP00000362304:E226K;ENSP00000362303:E226K	ENSP00000362303:E226K	E	+	1	0	ADAMTS14	72132227	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.327000	0.79147	2.826000	0.97356	0.561000	0.74099	GAA	ADAMTS14	-	NULL		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72462221	1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72462221	G	A	72462221	3	1	24	1	0	0	0	0	1	0	0	0	259	1291	45	1	686	1	ADAMTS14	10	72462221	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	562385	72462221	63072526	165	3586										
SLC16A12	387700	genome.wustl.edu	37	chr10	91195879	91195879	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agtataccacaccaagcgctGatgacaaagaggtggtcccc	10	12	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:91195879G>C	ENST00000341233.4	-	7	1526	c.1136C>G	c.(1135-1137)tCa>tGa	p.S379*	SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.S409*	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	379						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ACCAAGCGCTGATGACAAAGA	0.502																																																	0													124	101	109					10																	91195879		2203	4300	6503	SO:0001587	stop_gained	387700				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1136C>G	10.37:g.91195879G>C	ENSP00000343022:p.Ser379*		Q5M9M9|Q5T7J2|Q6ZV76	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S409*	ENST00000341233.4	37	c.1226		10	.	.	.	.	.	.	.	.	.	.	G	39	7.682481	0.98431	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	.	.	.	5.74	5.74	0.90152	.	0.070758	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.8429	0.63451	0.0:0.0:0.8474:0.1526	.	.	.	.	X	379;409	.	ENSP00000343022:S379X	S	-	2	0	SLC16A12	91185859	1.000000	0.71417	0.983000	0.44433	0.591000	0.36615	7.871000	0.87180	2.712000	0.92718	0.650000	0.86243	TCA	SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.502	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding		G	NM_213606		91195879	-1	no_errors	ENST00000371790	ensembl	human	known	70_37	nonsense	SNP	0.999	C	C	91195879	G	C	91195879	4	2	24	1	0	0	0	0	0	1	0	0	14435	1294	45	1	332	1	SLC16A12	10	91195879	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	18733658	91195879	44338868	166	3587										
KIF20B	9585	genome.wustl.edu	37	chr10	91497950	91497950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgacctactaaaagaaaaaGaaactcttatacagcagctg	6	8	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:91497950G>C	ENST00000371728.3	+	20	3417	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.E1078Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.E1118Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.E1148Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1118					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAGAAAAAGAAACTCTTAT	0.338																																																	0													48	55	53					10																	91497950		2199	4289	6488	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3352G>C	10.37:g.91497950G>C	ENSP00000360793:p.Glu1118Gln		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1148Q	ENST00000371728.3	37	c.3442		10	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697690	0.48307	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71222	-0.48;-0.47;-0.55;-0.48	5.87	5.87	0.94306	.	0.117407	0.38492	N	0.001665	T	0.72914	0.3520	L	0.56769	1.78	0.30328	N	0.786948	P;D	0.53885	0.938;0.963	B;P	0.48270	0.368;0.572	T	0.76135	-0.3070	10	0.66056	D	0.02	-10.9199	14.3637	0.66789	0.0705:0.0:0.9294:0.0	.	1118;1078	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	1078;1148;1118;1118	ENSP00000260753:E1078Q;ENSP00000411545:E1148Q;ENSP00000377830:E1118Q;ENSP00000360793:E1118Q	ENSP00000260753:E1078Q	E	+	1	0	KIF20B	91487930	1.000000	0.71417	0.994000	0.49952	0.663000	0.39108	4.361000	0.59461	2.779000	0.95612	0.591000	0.81541	GAA	KIF20B	-	NULL		0.338	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91497950	1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	1.000	C	C	91497950	G	C	91497950	3	2	24	1	0	0	0	0	1	0	0	0	8307	943	33	1	3306	1	KIF20B	10	91497950	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	302071	91497950	44036797	167	3588										
EXOSC1	51013	genome.wustl.edu	37	chr10	99203046	99203046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtaactgggactctgtttctCtcactacagacaccactgga	8	12	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:99203046C>G	ENST00000370902.3	-	3	201	c.170G>C	c.(169-171)aGa>aCa	p.R57T	ZDHHC16_ENST00000370846.4_5'Flank|ZDHHC16_ENST00000353979.3_5'Flank|EXOSC1_ENST00000370886.5_Missense_Mutation_p.R57T|EXOSC1_ENST00000485122.2_Missense_Mutation_p.R57T|EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000352634.4_5'Flank|ZDHHC16_ENST00000393760.1_5'Flank|EXOSC1_ENST00000370885.4_Intron|ZDHHC16_ENST00000345745.5_5'Flank|ZDHHC16_ENST00000370842.2_5'Flank|ZDHHC16_ENST00000370854.3_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	57					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CTCTGTTTCTCTCACTACAGA	0.443																																																	0													238	219	226					10																	99203046		2203	4300	6503	SO:0001583	missense	51013			AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"CSL4 exosomal core protein homolog (yeast)"	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.170G>C	10.37:g.99203046C>G	ENSP00000359939:p.Arg57Thr		B2R9B3|Q5JTH3	Missense_Mutation	SNP	pfam_EXOSC1,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1	p.R57T	ENST00000370902.3	37	c.170	CCDS7459.1	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353757	0.61293	.	.	ENSG00000171311	ENST00000370902;ENST00000370886;ENST00000370884	.	.	.	5.63	5.63	0.86233	.	0.047188	0.85682	D	0.000000	T	0.52256	0.1723	M	0.69823	2.125	0.80722	D	1	P	0.47034	0.889	B	0.30782	0.12	T	0.57370	-0.7823	9	0.20046	T	0.44	-15.651	19.2772	0.94036	0.0:1.0:0.0:0.0	.	57	Q9Y3B2	EXOS1_HUMAN	T	57	.	ENSP00000359921:R57T	R	-	2	0	EXOSC1	99193036	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.960000	0.63673	2.639000	0.89480	0.655000	0.94253	AGA	EXOSC1	-	superfamily_NA-bd_OB-fold-like		0.443	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC1	HGNC	protein_coding	OTTHUMT00000049680.1	C			99203046	-1	no_errors	ENST00000370902	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99203046	C	G	99203046	3	3	24	1	0	0	0	0	1	0	0	0	5325	913	32	1	441	1	EXOSC1	10	99203046	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7705096	99203046	36331701	168	3589										
CHUK	1147	genome.wustl.edu	37	chr10	101953849	101953849	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agggccacttccaccttaggGagtagatcaataatcttctg	9	10	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:101953849G>A	ENST00000370397.7	-	18	1952	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	622					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCACCTTAGGGAGTAGATCAA	0.418																																					Ovarian(159;52 1904 10536 35305 37148)												0													83	78	80					10																	101953849		2203	4300	6503	SO:0001819	synonymous_variant	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1866C>T	10.37:g.101953849G>A			O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L622	ENST00000370397.7	37	c.1866	CCDS7488.1	10																																																																																			CHUK	-	NULL		0.418	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	G	NM_001278		101953849	-1	no_errors	ENST00000370397	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101953849	G	A	101953849	2	1	24	1	0	0	0	0	0	0	0	1	3421	1161	41	1		1	CHUK	10	101953849	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2750803	101953849	33580898	169	3590										
PITX3	5309	genome.wustl.edu	37	chr10	103990664	103990664	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acgttgaccgagttgaaggcGaatggaaaggtcttggcggc	16	7	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:103990664G>A	ENST00000370002.3	-	4	669	c.516C>T	c.(514-516)ttC>ttT	p.F172F	PITX3_ENST00000539804.1_Silent_p.F172F	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	172					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTTGAAGGCGAATGGAAAGG	0.697																																																	0													15	18	17					10																	103990664		2193	4283	6476	SO:0001819	synonymous_variant	5309				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.516C>T	10.37:g.103990664G>A			Q5VZL2	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.F172	ENST00000370002.3	37	c.516	CCDS7532.1	10																																																																																			PITX3	-	pirsf_Homeobox_Pitx/unc30		0.697	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	HGNC	protein_coding	OTTHUMT00000050031.1	G			103990664	-1	no_errors	ENST00000370002	ensembl	human	known	70_37	silent	SNP	1.000	A	A	103990664	G	A	103990664	2	1	24	1	0	0	0	0	0	0	0	1	11980	1049	37	1		1	PITX3	10	103990664	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2036815	103990664	31544083	170	3591										
PITX3	5309	genome.wustl.edu	37	chr10	103990725	103990725	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgggcggccagttgccgtacGagtagccggggtacacctcc	15	13	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:103990725G>T	ENST00000370002.3	-	4	608	c.455C>A	c.(454-456)tCg>tAg	p.S152*	PITX3_ENST00000539804.1_Nonsense_Mutation_p.S152*	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	152					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTTGCCGTACGAGTAGCCGGG	0.687																																																	0													16	19	18					10																	103990725		2200	4298	6498	SO:0001587	stop_gained	5309				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.455C>A	10.37:g.103990725G>T	ENSP00000359019:p.Ser152*		Q5VZL2	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.S152*	ENST00000370002.3	37	c.455	CCDS7532.1	10	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900883	0.92035	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	.	.	.	4.46	4.46	0.54185	.	0.057709	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1302	0.86724	0.0:0.0:1.0:0.0	.	.	.	.	X	152	.	ENSP00000359019:S152X	S	-	2	0	PITX3	103980715	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.648000	0.98483	2.017000	0.59298	0.455000	0.32223	TCG	PITX3	-	pirsf_Homeobox_Pitx/unc30		0.687	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	HGNC	protein_coding	OTTHUMT00000050031.1	G			103990725	-1	no_errors	ENST00000370002	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	103990725	G	T	103990725	4	4	24	1	0	0	0	0	0	1	0	0	11980	1059	37	3	457	3	PITX3	10	103990725	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	61	103990725	31544022	171	3592										
GBF1	8729	genome.wustl.edu	37	chr10	104139119	104139119	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cggaggagcaacgccacctgGagacaggtggccagaagatt	15	10	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:104139119G>C	ENST00000369983.3	+	34	4830	c.4570G>C	c.(4570-4572)Gag>Cag	p.E1524Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1524					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACGCCACCTGGAGACAGGTGG	0.607																																																	0													59	56	57					10																	104139119		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4570G>C	10.37:g.104139119G>C	ENSP00000359000:p.Glu1524Gln		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1524Q	ENST00000369983.3	37	c.4570	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142983	0.37825	.	.	ENSG00000107862	ENST00000369983	T	0.11063	2.81	5.03	3.15	0.36227	.	0.145654	0.64402	N	0.000009	T	0.14614	0.0353	M	0.66439	2.03	0.48511	D	0.999665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.03773	-1.1005	10	0.35671	T	0.21	-4.5422	15.4209	0.75009	0.0:0.2634:0.7366:0.0	.	1520;1520;1524	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	1524	ENSP00000359000:E1524Q	ENSP00000359000:E1524Q	E	+	1	0	GBF1	104129109	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	6.527000	0.73803	0.694000	0.31654	-0.218000	0.12543	GAG	GBF1	-	NULL		0.607	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104139119	1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104139119	G	C	104139119	3	2	24	1	0	0	0	0	1	0	0	0	6290	1175	41	1	4700	1	GBF1	10	104139119	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	148394	104139119	31395628	172	3593										
DUSP5	1847	genome.wustl.edu	37	chr10	112262487	112262487	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttgtttttgtagggggatatGagactttctactcggaatat	11	4	1	1	rs370573010		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:112262487G>A	ENST00000369583.3	+	2	672	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	130	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGGGGGATATGAGACTTTCTA	0.408																																																	0													97	97	97					10																	112262487		2203	4300	6503	SO:0001583	missense	1847			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.388G>A	10.37:g.112262487G>A	ENSP00000358596:p.Glu130Lys		Q12997|Q5T603	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E130K	ENST00000369583.3	37	c.388	CCDS7566.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909232	0.92107	.	.	ENSG00000138166	ENST00000369583	T	0.25414	1.8	6.02	6.02	0.97574	Rhodanese-like (5);	0.137842	0.64402	D	0.000004	T	0.48447	0.1500	M	0.71206	2.165	0.80722	D	1	D	0.61080	0.989	P	0.57620	0.824	T	0.38628	-0.9652	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	130	Q16690	DUS5_HUMAN	K	130	ENSP00000358596:E130K	ENSP00000358596:E130K	E	+	1	0	DUSP5	112252477	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.336000	0.79245	2.850000	0.98022	0.650000	0.86243	GAG	DUSP5	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom		0.408	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	HGNC	protein_coding	OTTHUMT00000050333.1	G	NM_004419		112262487	1	no_errors	ENST00000369583	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112262487	G	A	112262487	3	1	24	1	0	0	0	0	1	0	0	0	4838	1291	45	1	394	1	DUSP5	10	112262487	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8123368	112262487	23272260	173	3594										
PLEKHA1	59338	genome.wustl.edu	37	chr10	124172482	124172482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	taattctgataacctaagtcGccatggtgaatgtgggaaaa	10	6	1	2	rs374805648		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:124172482G>A	ENST00000368990.3	+	6	520	c.389G>A	c.(388-390)cGc>cAc	p.R130H	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.R130H|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R130H|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R130H|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R130H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	130					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACCTAAGTCGCCATGGTGAA	0.388																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	127	113	117		389,389,389	5	1	10		117	0,8600		0,0,4300	no	missense,missense,missense	PLEKHA1	NM_001001974.2,NM_001195608.1,NM_021622.4	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	130/405,130/335,130/405	124172482	1,13005	2203	4300	6503	SO:0001583	missense	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.389G>A	10.37:g.124172482G>A	ENSP00000357986:p.Arg130His		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R130H	ENST00000368990.3	37	c.389	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317100	0.60524	2.27E-4	0.0	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.18016	3.36;3.23;3.23;2.24;3.36	5.88	4.98	0.66077	.	0.326514	0.38492	N	0.001677	T	0.19005	0.0456	L	0.54323	1.7	0.36181	D	0.849445	B;P	0.50528	0.154;0.936	B;B	0.43194	0.006;0.411	T	0.18808	-1.0325	10	0.42905	T	0.14	-9.8339	11.0645	0.47968	0.1409:0.0:0.8591:0.0	.	130;130	B3KQ55;Q9HB21	.;PKHA1_HUMAN	H	130	ENSP00000357986:R130H;ENSP00000357985:R130H;ENSP00000357984:R130H;ENSP00000438608:R130H;ENSP00000394416:R130H	ENSP00000357984:R130H	R	+	2	0	PLEKHA1	124162472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.381000	0.44336	1.504000	0.48704	0.591000	0.81541	CGC	PLEKHA1	-	NULL		0.388	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124172482	1	no_errors	ENST00000368990	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124172482	G	A	124172482	3	1	24	1	0	0	0	0	1	0	0	0	12079	1087	38	2	407	2	PLEKHA1	10	124172482	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	11909995	124172482	11362265	174	3595										
DOCK1	1793	genome.wustl.edu	37	chr10	129216661	129216661	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cccctggagaatgccattgaGaccatgcagctgacgaacga	11	12	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr10:129216661G>A	ENST00000280333.6	+	45	4594	c.4485G>A	c.(4483-4485)gaG>gaA	p.E1495E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1495	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATGCCATTGAGACCATGCAGC	0.597																																																	0													55	65	61					10																	129216661		2196	4299	6495	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4485G>A	10.37:g.129216661G>A			A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.E1495	ENST00000280333.6	37	c.4485		10																																																																																			DOCK1	-	pfam_DOCK_C		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380		129216661	1	no_errors	ENST00000280333	ensembl	human	known	70_37	silent	SNP	1.000	A	A	129216661	G	A	129216661	2	1	24	1	0	0	0	0	0	0	0	1	4694	933	33	1		1	DOCK1	10	129216661	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5044179	129216661	6318086	175	3596										
IPO7	10527	genome.wustl.edu	37	chr11	9424908	9424908	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaacagctggatttacctgtGagacaggcaggcaagtttcc	12	9	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:9424908G>C	ENST00000379719.3	+	2	298	c.156G>C	c.(154-156)gtG>gtC	p.V52V	IPO7_ENST00000533680.1_3'UTR	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	52	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTTACCTGTGAGACAGGCAG	0.378																																																	0													93	84	87					11																	9424908		2201	4296	6497	SO:0001819	synonymous_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.156G>C	11.37:g.9424908G>C			A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V52	ENST00000379719.3	37	c.156	CCDS31425.1	11																																																																																			IPO7	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	G	NM_006391		9424908	1	no_errors	ENST00000379719	ensembl	human	known	70_37	silent	SNP	1.000	C	C	9424908	G	C	9424908	2	2	24	1	0	0	0	0	0	0	0	1	7817	1277	45	1		1	IPO7	11	9424908	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		9424908	125581608	176	3597										
MRVI1	10335	genome.wustl.edu	37	chr11	10602102	10602102	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctcctcctccttcaggtcttGaagttctttggtcttcttta	6	12	5	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:10602102G>C	ENST00000436272.1	-	19	2392	c.2314C>G	c.(2314-2316)Caa>Gaa	p.Q772E	MRVI1_ENST00000424001.1_Missense_Mutation_p.Q484E|MRVI1_ENST00000423302.2_Missense_Mutation_p.Q799E|MRVI1_ENST00000552103.1_Missense_Mutation_p.Q708E|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000545852.1_Missense_Mutation_p.Q484E|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000531107.1_Missense_Mutation_p.Q791E|MRVI1_ENST00000547195.1_Missense_Mutation_p.Q708E|MRVI1_ENST00000421747.1_Missense_Mutation_p.Q790E|MRVI1_ENST00000534266.2_Missense_Mutation_p.Q484E|MRVI1_ENST00000541483.1_Missense_Mutation_p.Q593E|MRVI1_ENST00000558540.1_Missense_Mutation_p.Q484E|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.Q708E			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	772	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCAGGTCTTGAAGTTCTTTG	0.488																																																	0													133	132	132					11																	10602102		1863	4119	5982	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2314C>G	11.37:g.10602102G>C	ENSP00000412229:p.Gln772Glu		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.Q790E	ENST00000436272.1	37	c.2368		11	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171503	0.38315	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.33	5.33	0.75918	.	0.069915	0.64402	D	0.000018	T	0.13286	0.0322	L	0.54323	1.7	0.39029	D	0.959896	B;B;B;B	0.22003	0.063;0.003;0.006;0.005	B;B;B;B	0.14578	0.01;0.008;0.011;0.007	T	0.07673	-1.0760	10	0.02654	T	1	-9.7261	9.0329	0.36269	0.0787:0.1496:0.7716:0.0	.	593;772;791;790	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	E	790;773;772;708;708;484;484;799;593;791;708	ENSP00000414598:Q790E;ENSP00000412229:Q772E;ENSP00000448278:Q708E;ENSP00000446764:Q708E;ENSP00000441971:Q484E;ENSP00000401205:Q484E;ENSP00000412130:Q799E;ENSP00000437784:Q593E;ENSP00000432436:Q791E;ENSP00000432067:Q708E	ENSP00000307885:Q773E	Q	-	1	0	MRVI1	10558678	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.738000	0.47401	2.634000	0.89283	0.650000	0.86243	CAA	MRVI1	-	pfam_MRVI1		0.488	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		G	NM_001098579		10602102	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10602102	G	C	10602102	3	2	24	1	0	0	0	0	1	0	0	0	9876	1299	45	1	351	1	MRVI1	11	10602102	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1177194	10602102	124404414	177	3598										
GALNTL4	374378	genome.wustl.edu	37	chr11	11398878	11398878	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgttatcaaaggatggcgaGatgatccgcttccggttctc	11	9	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:11398878G>A	ENST00000227756.4	-	5	1239	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	276					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGATGGCGAGATGATCCGCT	0.522																																																	0													79	70	73					11																	11398878		2201	4294	6495	SO:0001819	synonymous_variant	374378			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.828C>T	11.37:g.11398878G>A			O95903|Q8NDY9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I276	ENST00000227756.4	37	c.828	CCDS7807.1	11																																																																																			GALNTL4	-	pfam_Glyco_trans_2		0.522	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	HGNC	protein_coding	OTTHUMT00000385848.1	G	NM_198516		11398878	-1	no_errors	ENST00000227756	ensembl	human	known	70_37	silent	SNP	0.998	A	A	11398878	G	A	11398878	2	1	24	1	0	0	0	0	0	0	0	1	6242	932	33	1		1	GALNTL4	11	11398878	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	796776	11398878	123607638	178	3599										
PLEKHA7	144100	genome.wustl.edu	37	chr11	16877407	16877407	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccagccgtggatgtttcactGaccatgctggacggtctttg	12	11	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:16877407G>A	ENST00000355661.3	-	5	370	c.360C>T	c.(358-360)gtC>gtT	p.V120V	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.V120V|PLEKHA7_ENST00000448080.2_Silent_p.V120V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	120					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGTTTCACTGACCATGCTGG	0.537																																																	0													234	217	223					11																	16877407		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.360C>T	11.37:g.16877407G>A			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.V120	ENST00000355661.3	37	c.360	CCDS31434.1	11																																																																																			PLEKHA7	-	NULL		0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	G	NM_175058		16877407	-1	no_errors	ENST00000448080	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16877407	G	A	16877407	2	1	24	1	0	0	0	0	0	0	0	1	12085	1277	45	1		1	PLEKHA7	11	16877407	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5478529	16877407	118129109	179	3600										
KCNJ11	3767	genome.wustl.edu	37	chr11	17409138	17409138	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcttgggcagtcttcatgaaGatgcagccaagcatgatggc	13	9	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:17409138G>C	ENST00000339994.4	-	1	1068	c.501C>G	c.(499-501)atC>atG	p.I167M	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.I80M	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	167					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TCTTCATGAAGATGCAGCCAA	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	64	69					11																	17409138		2200	4293	6493	SO:0001583	missense	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.501C>G	11.37:g.17409138G>C	ENSP00000345708:p.Ile167Met	717	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2	p.I167M	ENST00000339994.4	37	c.501	CCDS31436.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157408	0.38119	.	.	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.94537	-3.45;-3.45;-3.45	5.16	5.16	0.70880	.	0.052805	0.85682	D	0.000000	D	0.95427	0.8515	L	0.48935	1.535	0.80722	D	1	D	0.67145	0.996	D	0.69307	0.963	D	0.93001	0.6423	10	0.10902	T	0.67	.	18.6357	0.91378	0.0:0.0:1.0:0.0	.	167	B2RC52	.	M	167;80;80	ENSP00000345708:I167M;ENSP00000434755:I80M;ENSP00000432729:I80M	ENSP00000345708:I167M	I	-	3	3	KCNJ11	17365714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.758000	0.74929	2.398000	0.81561	0.462000	0.41574	ATC	KCNJ11	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	HGNC	protein_coding	OTTHUMT00000387037.1	G	NM_000525		17409138	-1	no_errors	ENST00000339994	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17409138	G	C	17409138	3	2	24	1	0	0	0	0	1	0	0	0	8065	932	33	1	675	1	KCNJ11	11	17409138	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	531731	17409138	117597378	180	3601										
KCNC1	3746	genome.wustl.edu	37	chr11	17793409	17793409	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggcgtctgtgtggtctggttCaccttcgagttcctcatgcg	13	11	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:17793409C>T	ENST00000379472.3	+	2	798	c.768C>T	c.(766-768)ttC>ttT	p.F256F	KCNC1_ENST00000265969.6_Silent_p.F256F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	256					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGGTCTGGTTCACCTTCGAGT	0.542																																																	0													334	278	297					11																	17793409		2200	4293	6493	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.768C>T	11.37:g.17793409C>T			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.F256	ENST00000379472.3	37	c.768	CCDS7827.1	11																																																																																			KCNC1	-	pfam_Ion_trans_dom,prints_K_chnl		0.542	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	C	NM_004976		17793409	1	no_errors	ENST00000265969	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17793409	C	T	17793409	2	4	24	1	0	0	0	0	0	0	0	1	8034	825	29	1		1	KCNC1	11	17793409	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	384271	17793409	117213107	181	3602										
IGSF22	283284	genome.wustl.edu	37	chr11	18743564	18743564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgaagaactccactatgctcGaggacttcctcctcacgacc	7	15	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:18743564G>A	ENST00000513874.1	-	3	273	c.134C>T	c.(133-135)tCg>tTg	p.S45L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	45										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CACTATGCTCGAGGACTTCCT	0.607											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	75	74					11																	18743564		2020	4161	6181	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.134C>T	11.37:g.18743564G>A	ENSP00000421191:p.Ser45Leu	90	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S45L	ENST00000513874.1	37	c.134	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234526	0.79800	.	.	ENSG00000179057	ENST00000513874	T	0.51817	0.69	5.04	0.638	0.17742	.	0.000000	0.29916	U	0.010867	T	0.19725	0.0474	N	0.14661	0.345	0.09310	N	0.999999	P	0.34955	0.477	B	0.22753	0.041	T	0.11251	-1.0595	10	0.26408	T	0.33	.	4.6629	0.12652	0.0785:0.1241:0.5724:0.225	.	45	D6RGV7	.	L	45	ENSP00000421191:S45L	ENSP00000322422:S45L	S	-	2	0	IGSF22	18700140	0.980000	0.34600	0.003000	0.11579	0.959000	0.62525	1.833000	0.39161	0.097000	0.17492	0.655000	0.94253	TCG	IGSF22	-	NULL		0.607	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	G	NM_173588		18743564	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.141	A	A	18743564	G	A	18743564	3	1	24	1	0	0	0	0	1	0	0	0	7620	1059	37	1	3930	1	IGSF22	11	18743564	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	950155	18743564	116262952	182	3603										
TCP11L1	55346	genome.wustl.edu	37	chr11	33079605	33079605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcagaattcattattggcatGatggggacactgtgtgcacc	12	8	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:33079605G>A	ENST00000334274.4	+	5	958	c.558G>A	c.(556-558)atG>atA	p.M186I	TCP11L1_ENST00000432887.1_Missense_Mutation_p.M186I|TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000531632.2_Missense_Mutation_p.M186I|TCP11L1_ENST00000324357.9_5'Flank	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	186						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						TTATTGGCATGATGGGGACAC	0.428																																																	0													99	90	93					11																	33079605		2202	4298	6500	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.558G>A	11.37:g.33079605G>A	ENSP00000335595:p.Met186Ile		D3DR01|Q8IVX4	Missense_Mutation	SNP	pfam_Tcp11	p.M186I	ENST00000334274.4	37	c.558	CCDS7882.1	11	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286325	0.40494	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887	T;T;T	0.08720	3.06;3.06;3.06	5.53	2.58	0.30949	.	0.145359	0.85682	N	0.000000	T	0.05731	0.0150	L	0.27053	0.805	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36841	-0.9731	9	.	.	.	-17.8616	9.859	0.41103	0.0657:0.0:0.6879:0.2463	.	186	Q9NUJ3	T11L1_HUMAN	I	186	ENSP00000335595:M186I;ENSP00000433067:M186I;ENSP00000395070:M186I	.	M	+	3	0	TCP11L1	33036181	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.344000	0.52174	0.676000	0.31285	0.491000	0.48974	ATG	TCP11L1	-	pfam_Tcp11		0.428	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L1	HGNC	protein_coding	OTTHUMT00000383377.4	G	NM_018393		33079605	1	no_errors	ENST00000527661	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33079605	G	A	33079605	3	1	24	1	0	0	0	0	1	0	0	0	15744	1290	45	1	572	1	TCP11L1	11	33079605	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	14336041	33079605	101926911	183	3604										
MADD	8567	genome.wustl.edu	37	chr11	47296120	47296120	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tttatgttcttcaggcacccGagcagtgatagcgtggccca	11	11	2	1	rs200598460		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:47296120G>A	ENST00000311027.5	+	3	234	c.69G>A	c.(67-69)ccG>ccA	p.P23P	MADD_ENST00000349238.3_Silent_p.P23P|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000407859.3_Silent_p.P23P|MADD_ENST00000406482.1_Silent_p.P23P|MADD_ENST00000395336.3_Silent_p.P23P|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000342922.4_Silent_p.P23P|MADD_ENST00000402192.2_Silent_p.P23P|MADD_ENST00000402799.1_Silent_p.P23P|MADD_ENST00000395344.3_Silent_p.P23P	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAGGCACCCGAGCAGTGATA	0.483																																																	0													123	124	124					11																	47296120		2201	4298	6499	SO:0001819	synonymous_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.69G>A	11.37:g.47296120G>A				Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P23	ENST00000311027.5	37	c.69	CCDS7930.1	11																																																																																			MADD	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.483	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47296120	1	no_errors	ENST00000311027	ensembl	human	known	70_37	silent	SNP	0.991	A	A	47296120	G	A	47296120	2	1	24	1	0	0	0	0	0	0	0	1	9175	1045	37	1		1	MADD	11	47296120	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	14216515	47296120	87710396	184	3605										
MS4A3	932	genome.wustl.edu	37	chr11	59828641	59828641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ataaacaaccccaatggcctCccacgaagttgataatgcag	7	12	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:59828641C>T	ENST00000278865.3	+	2	81	c.8C>T	c.(7-9)tCc>tTc	p.S3F	MS4A3_ENST00000534744.1_Missense_Mutation_p.S3F|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.S3F|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	3						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAATGGCCTCCCACGAAGTT	0.488																																																	0													77	77	77					11																	59828641		2201	4295	6496	SO:0001583	missense	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.8C>T	11.37:g.59828641C>T	ENSP00000278865:p.Ser3Phe		A8MTP8|Q8NHW2	Missense_Mutation	SNP	pfam_CD20-like	p.S3F	ENST00000278865.3	37	c.8	CCDS31567.1	11	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818628	0.50633	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.40476	1.03;2.9;1.03	4.21	3.21	0.36854	.	2.789120	0.01134	N	0.006051	T	0.52853	0.1760	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	T	0.52170	-0.8611	10	0.72032	D	0.01	-16.3825	8.6778	0.34189	0.2274:0.7726:0.0:0.0	.	3;3	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	F	3	ENSP00000350872:S3F;ENSP00000278865:S3F;ENSP00000434117:S3F	ENSP00000278865:S3F	S	+	2	0	MS4A3	59585217	0.055000	0.20627	0.773000	0.31616	0.011000	0.07611	0.783000	0.26802	2.306000	0.77630	0.563000	0.77884	TCC	MS4A3	-	NULL		0.488	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A3	HGNC	protein_coding	OTTHUMT00000394417.1	C			59828641	1	no_errors	ENST00000278865	ensembl	human	known	70_37	missense	SNP	0.144	T	T	59828641	C	T	59828641	3	4	24	1	0	0	0	0	1	0	0	0	9884	855	30	1	10	1	MS4A3	11	59828641	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	12532521	59828641	75177875	185	3606										
INCENP	3619	genome.wustl.edu	37	chr11	61919295	61919295	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccaccgaaccttctggagctCtttggaaccattctcccact	6	16	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:61919295C>G	ENST00000394818.3	+	19	2806	c.2604C>G	c.(2602-2604)ctC>ctG	p.L868L	INCENP_ENST00000278849.4_Silent_p.L864L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	868					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTGGAGCTCTTTGGAACCA	0.577																																																	0													112	100	104					11																	61919295		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2604C>G	11.37:g.61919295C>G			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.L868	ENST00000394818.3	37	c.2604	CCDS44624.1	11																																																																																			INCENP	-	pfam_Inner_centromere_prot_ARK-bd		0.577	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	C	NM_020238		61919295	1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	1.000	G	G	61919295	C	G	61919295	2	3	24	1	0	0	0	0	0	0	0	1	7753	900	32	1		1	INCENP	11	61919295	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2090654	61919295	73087221	186	3607										
EML3	256364	genome.wustl.edu	37	chr11	62370341	62370341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggagttgatgtcggtcccatCggagccgtccggccagacgc	15	13	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:62370341C>T	ENST00000394773.2	-	21	2684	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	MTA2_ENST00000527204.1_5'Flank|MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000494176.2_Intron|EML3_ENST00000529309.1_Intron|EML3_ENST00000278845.4_Missense_Mutation_p.D794N|EML3_ENST00000531557.1_Missense_Mutation_p.D576N	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	793						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCGGTCCCATCGGAGCCGTCC	0.677																																																	0													12	15	14					11																	62370341		2192	4288	6480	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2377G>A	11.37:g.62370341C>T	ENSP00000378254:p.Asp793Asn		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D793N	ENST00000394773.2	37	c.2377	CCDS8023.2	11	.	.	.	.	.	.	.	.	.	.	C	34	5.395525	0.96009	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557	T;T;T	0.36699	1.57;1.31;1.24	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	2.046330	0.03895	N	0.279313	T	0.65637	0.2710	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.73708	0.981;0.922;0.894	T	0.45205	-0.9277	10	0.87932	D	0	.	15.8426	0.78861	0.0:1.0:0.0:0.0	.	793;576;794	Q32P44;G3V195;B7WPE2	EMAL3_HUMAN;.;.	N	793;794;576	ENSP00000378254:D793N;ENSP00000278845:D794N;ENSP00000433417:D576N	ENSP00000278845:D794N	D	-	1	0	EML3	62126917	1.000000	0.71417	0.863000	0.33907	0.919000	0.55068	7.513000	0.81739	2.341000	0.79615	0.561000	0.74099	GAT	EML3	-	superfamily_Quinonprotein_ADH-like		0.677	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62370341	-1	no_errors	ENST00000394773	ensembl	human	known	70_37	missense	SNP	0.999	T	T	62370341	C	T	62370341	3	4	24	1	0	0	0	0	1	0	0	0	5110	884	31	1	321	1	EML3	11	62370341	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	451046	62370341	72636175	187	3608										
HNRNPUL2	221092	genome.wustl.edu	37	chr11	62488794	62488794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agaataaagttcctctttgtCcgggaagcaatctggaccag	10	9	2	1	rs200608017		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:62488794C>T	ENST00000301785.5	-	9	1776	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.R528R	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	528						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTCTTTGTCCGGGAAGCAA	0.453													C|||	1	0.000199681	0	0	5008	,	,		19117	0		0.001	False		,,,				2504	0																0								C		0,3772		0,0,1886	178	187	184		1584	2.2	1	11		184	1,8221		0,1,4110	no	coding-synonymous	HNRNPUL2	NM_001079559.2		0,1,5996	TT,TC,CC		0.0122,0.0,0.0083		528/748	62488794	1,11993	1886	4111	5997	SO:0001819	synonymous_variant	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1584G>A	11.37:g.62488794C>T			Q8N3B3	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.R528	ENST00000301785.5	37	c.1584	CCDS41659.1	11																																																																																			HNRNPUL2	-	pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12		0.453	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	C	XM_495877		62488794	-1	no_errors	ENST00000301785	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62488794	C	T	62488794	2	4	24	1	0	0	0	0	0	0	0	1	7295	842	30	1		1	HNRNPUL2	11	62488794	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	118453	62488794	72517722	188	3609										
CABP2	51475	genome.wustl.edu	37	chr11	67288598	67288598	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gccaatgtagccgtcccggtCtcggtcaaactcctggaagg	12	13	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:67288598C>G	ENST00000294288.4	-	4	346	c.277G>C	c.(277-279)Gac>Cac	p.D93H	CABP2_ENST00000353903.5_Missense_Mutation_p.D36H	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	93	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCGTCCCGGTCTCGGTCAAAC	0.637																																																	0													77	71	73					11																	67288598		2200	4295	6495	SO:0001583	missense	51475			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.277G>C	11.37:g.67288598C>G	ENSP00000294288:p.Asp93His			Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D93H	ENST00000294288.4	37	c.277	CCDS8170.1	11	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994416	0.54041	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.77358	-1.09;-1.09	4.53	4.53	0.55603	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.91663	3.23	0.52501	D	0.999951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.92459	0.5976	10	0.87932	D	0	-36.4367	16.3593	0.83251	0.0:1.0:0.0:0.0	.	99;36;93	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	H	36;93	ENSP00000312037:D36H;ENSP00000294288:D93H	ENSP00000294288:D93H	D	-	1	0	CABP2	67045174	0.988000	0.35896	1.000000	0.80357	0.190000	0.23558	2.847000	0.48270	2.514000	0.84764	0.555000	0.69702	GAC	CABP2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.637	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	HGNC	protein_coding	OTTHUMT00000397516.1	C			67288598	-1	no_errors	ENST00000294288	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67288598	C	G	67288598	3	3	24	1	0	0	0	0	1	0	0	0	2537	913	32	1	401	1	CABP2	11	67288598	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4799804	67288598	67717918	189	3610										
NUMA1	4926	genome.wustl.edu	37	chr11	71724989	71724989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagccaactcccgttgggccGaggctaaggcactctgactg	12	14	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:71724989G>A	ENST00000393695.3	-	15	3891	c.3560C>T	c.(3559-3561)tCg>tTg	p.S1187L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.S1187L|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCGTTGGGCCGAGGCTAAGGC	0.652			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													70	61	64					11																	71724989		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3560C>T	11.37:g.71724989G>A	ENSP00000377298:p.Ser1187Leu			Missense_Mutation	SNP	superfamily_Prefoldin	p.S1187L	ENST00000393695.3	37	c.3560	CCDS31633.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.109|8.109	0.778324|0.778324	0.16120|0.16120	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T	.|0.12879	.|2.64;2.65	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.204889	.|0.24786	.|N	.|0.035614	T|T	0.10809|0.10809	0.0264|0.0264	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31413	.|0.165;0.322;0.296;0.165	.|B;B;B;B	.|0.22601	.|0.038;0.039;0.04;0.038	T|T	0.16335|0.16335	-1.0406|-1.0406	5|10	.|0.54805	.|T	.|0.06	.|.	9.0872|9.0872	0.36587|0.36587	0.0:0.0:0.7817:0.2183|0.0:0.0:0.7817:0.2183	.|.	.|1193;671;1187;1187	.|Q4LE64;Q59HB8;Q14980-2;Q14980	.|.;.;.;NUMA1_HUMAN	W|L	32|1187;1187;750;156	.|ENSP00000351851:S1187L;ENSP00000377298:S1187L	.|ENSP00000351851:S1187L	R|S	-|-	1|2	2|0	NUMA1|NUMA1	71402637|71402637	0.022000|0.022000	0.18835|0.18835	0.034000|0.034000	0.17996|0.17996	0.071000|0.071000	0.16799|0.16799	2.174000|2.174000	0.42482|0.42482	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CGG|TCG	NUMA1	-	NULL		0.652	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	G			71724989	-1	no_errors	ENST00000393695	ensembl	human	known	70_37	missense	SNP	0.020	A	A	71724989	G	A	71724989	3	1	24	1	0	0	0	0	1	0	0	0	10774	1059	37	1	2839	1	NUMA1	11	71724989	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	4436391	71724989	63281527	190	3611										
RSF1	51773	genome.wustl.edu	37	chr11	77412845	77412845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctccgtgatgatatttctgtCcttagaggggctatagctct	10	9	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:77412845C>T	ENST00000308488.6	-	6	1731	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	RSF1_ENST00000480887.1_Missense_Mutation_p.D225N|RSF1_ENST00000360355.2_Missense_Mutation_p.D446N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATATTTCTGTCCTTAGAGGGG	0.398																																																	0													122	120	121					11																	77412845		2200	4292	6492	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1429G>A	11.37:g.77412845C>T	ENSP00000311513:p.Asp477Asn		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D477N	ENST00000308488.6	37	c.1429	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072625	0.55646	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86432	-2.09;-2.1;-2.08;-2.12;1.32	5.54	5.54	0.83059	.	0.339854	0.25469	N	0.030443	D	0.82724	0.5099	L	0.32530	0.975	0.39327	D	0.965349	P	0.38922	0.651	B	0.35859	0.212	D	0.85159	0.0991	10	0.66056	D	0.02	-3.853	19.0837	0.93194	0.0:1.0:0.0:0.0	.	477	Q96T23	RSF1_HUMAN	N	477;225;446;278;476	ENSP00000311513:D477N;ENSP00000434509:D225N;ENSP00000353511:D446N;ENSP00000432022:D278N;ENSP00000436408:D476N	ENSP00000311513:D477N	D	-	1	0	RSF1	77090493	0.998000	0.40836	0.862000	0.33874	0.967000	0.64934	3.262000	0.51538	2.609000	0.88269	0.655000	0.94253	GAC	RSF1	-	NULL		0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	C	NM_016578		77412845	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77412845	C	T	77412845	3	4	24	1	0	0	0	0	1	0	0	0	13729	855	30	1	2940	1	RSF1	11	77412845	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5687856	77412845	57593671	191	3612										
FAT3	120114	genome.wustl.edu	37	chr11	92534124	92534124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aggcctctgtttcagtggccGacctcctggaaatcgatcct	10	13	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:92534124G>A	ENST00000298047.6	+	9	7962	c.7945G>A	c.(7945-7947)Gac>Aac	p.D2649N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2649N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2499N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2649	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCAGTGGCCGACCTCCTGGA	0.458										TCGA Ovarian(4;0.039)																																							0													35	34	35					11																	92534124		1883	4102	5985	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7945G>A	11.37:g.92534124G>A	ENSP00000298047:p.Asp2649Asn		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2649N	ENST00000298047.6	37	c.7945		11	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933896	0.92458	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50548	0.74;0.74;0.74	6.17	6.17	0.99709	.	.	.	.	.	T	0.57770	0.2076	L	0.31526	0.94	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.44682	-0.9312	9	0.24483	T	0.36	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2649	Q8TDW7-3	.	N	2649;2649;2499	ENSP00000298047:D2649N;ENSP00000387040:D2649N;ENSP00000432586:D2499N	ENSP00000298047:D2649N	D	+	1	0	FAT3	92173772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.939000	0.87685	2.941000	0.99782	0.655000	0.94253	GAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92534124	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92534124	G	A	92534124	3	1	24	1	0	0	0	0	1	0	0	0	5709	1058	37	1	7979	1	FAT3	11	92534124	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	15121279	92534124	42472392	192	3613										
AMOTL1	154810	genome.wustl.edu	37	chr11	94533423	94533423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccctgctcctcagcctgtgaGaacagatgtggccgtcctgc	11	15	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:94533423G>A	ENST00000433060.2	+	3	1208	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R306K|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R356K	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	356					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCTGTGAGAACAGATGTG	0.552																																																	0													97	99	98					11																	94533423		2002	4163	6165	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1067G>A	11.37:g.94533423G>A	ENSP00000387739:p.Arg356Lys		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R356K	ENST00000433060.2	37	c.1067	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139484	0.56936	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.09538	2.97;2.97;2.97	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.79926	2.475	0.40968	D	0.984673	D;D	0.63880	0.988;0.993	P;P	0.53062	0.717;0.708	T	0.09015	-1.0694	9	.	.	.	-20.976	18.5608	0.91100	0.0:0.0:1.0:0.0	.	306;356	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	K	306;362;356;356	ENSP00000320968:R306K;ENSP00000323474:R356K;ENSP00000387739:R356K	.	R	+	2	0	AMOTL1	94173071	0.996000	0.38824	0.974000	0.42286	0.859000	0.49053	4.871000	0.63042	2.395000	0.81488	0.555000	0.69702	AGA	AMOTL1	-	NULL		0.552	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	G	NM_130847		94533423	1	no_errors	ENST00000433060	ensembl	human	known	70_37	missense	SNP	0.987	A	A	94533423	G	A	94533423	3	1	24	1	0	0	0	0	1	0	0	0	583	942	33	1	1077	1	AMOTL1	11	94533423	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1999299	94533423	40473093	193	3614										
ATM	472	genome.wustl.edu	37	chr11	108160402	108160402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	taatgtttataagaagcacaGaattcttaaaatatatcacc	4	6	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:108160402G>A	ENST00000452508.2	+	30	4499	c.4310G>A	c.(4309-4311)aGa>aAa	p.R1437K	ATM_ENST00000278616.4_Missense_Mutation_p.R1437K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1437					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGAAGCACAGAATTCTTAAA	0.313			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													54	57	56					11																	108160402		2201	4295	6496	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4310G>A	11.37:g.108160402G>A	ENSP00000388058:p.Arg1437Lys		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1437K	ENST00000452508.2	37	c.4310	CCDS31669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517824|4.517824	0.85495|0.85495	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000531525|ENST00000278616;ENST00000452508;ENST00000389511	.|T;T	.|0.01665	.|4.7;4.7	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.09949|0.09949	0.0244|0.0244	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999996|0.999996	.|D;P	.|0.67145	.|0.996;0.917	.|D;B	.|0.76071	.|0.987;0.32	T|T	0.03795|0.03795	-1.1003|-1.1003	5|10	.|0.40728	.|T	.|0.16	.|.	19.4348|19.4348	0.94786|0.94786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|89;1437	.|E7EV38;Q13315	.|.;ATM_HUMAN	K|K	107|1437;1437;89	.|ENSP00000278616:R1437K;ENSP00000388058:R1437K	.|ENSP00000278616:R1437K	E|R	+|+	1|2	0|0	ATM|ATM	107665612|107665612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.563000|9.563000	0.98148|0.98148	2.663000|2.663000	0.90544|0.90544	0.650000|0.650000	0.86243|0.86243	GAA|AGA	ATM	-	superfamily_ARM-type_fold		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108160402	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108160402	G	A	108160402	3	1	24	1	0	0	0	0	1	0	0	0	1110	942	33	1	4420	1	ATM	11	108160402	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	13626979	108160402	26846114	194	3615										
EXPH5	23086	genome.wustl.edu	37	chr11	108380360	108380360	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tccactgggtcatcctcataGatattaagcggttcacttgg	9	10	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr11:108380360G>A	ENST00000265843.4	-	6	5984	c.5874C>T	c.(5872-5874)atC>atT	p.I1958I	EXPH5_ENST00000428840.1_Silent_p.I1882I|EXPH5_ENST00000443411.1_Silent_p.I1770I|EXPH5_ENST00000525344.1_Silent_p.I1951I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1958					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCTCATAGATATTAAGCG	0.448																																																	0													145	145	145					11																	108380360		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5874C>T	11.37:g.108380360G>A			Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.I1958	ENST00000265843.4	37	c.5874	CCDS8341.1	11																																																																																			EXPH5	-	NULL		0.448	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108380360	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	silent	SNP	1.000	A	A	108380360	G	A	108380360	2	1	24	1	0	0	0	0	0	0	0	1	5334	932	33	1		1	EXPH5	11	108380360	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	219958	108380360	26626156	195	3616										
CLSTN3	9746	genome.wustl.edu	37	chr12	7301773	7301773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	accaggtggaggccaaaaagGatgagagttggcagggcaca	16	7	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:7301773G>T	ENST00000266546.6	+	13	2503	c.2053G>T	c.(2053-2055)Gat>Tat	p.D685Y	CLSTN3_ENST00000537408.1_Missense_Mutation_p.D697Y	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	685					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCAAAAAGGATGAGAGTTG	0.562																																																	0													52	47	49					12																	7301773		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2053G>T	12.37:g.7301773G>T	ENSP00000266546:p.Asp685Tyr		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D685Y	ENST00000266546.6	37	c.2053	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592997	0.86953	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.31510	1.49;1.49	5.71	5.71	0.89125	.	0.134947	0.52532	D	0.000078	T	0.47691	0.1459	L	0.50333	1.59	0.52099	D	0.999948	P;D	0.60575	0.94;0.988	P;P	0.56751	0.529;0.805	T	0.37979	-0.9682	10	0.62326	D	0.03	-22.8076	19.8575	0.96767	0.0:0.0:1.0:0.0	.	697;685	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	Y	685;697	ENSP00000266546:D685Y;ENSP00000440679:D697Y	ENSP00000266546:D685Y	D	+	1	0	CLSTN3	7193040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.401000	0.79962	2.698000	0.92095	0.561000	0.74099	GAT	CLSTN3	-	NULL		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	G	NM_014718		7301773	1	no_errors	ENST00000266546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7301773	G	T	7301773	3	4	24	1	0	0	0	0	1	0	0	0	3568	1174	41	3	2103	3	CLSTN3	12	7301773	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		7301773	126550122	196	3617										
LRP6	4040	genome.wustl.edu	37	chr12	12291357	12291358	+	Frame_Shift_Ins	INS	-	-	T													0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctctcgacctgtcatgtcaaINSttttttcaatcatttgctgc							TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:12291357_12291358insT	ENST00000261349.4	-	16	3584_3585	c.3508_3509insA	c.(3508-3510)attfs	p.I1170fs	LRP6_ENST00000543091.1_Frame_Shift_Ins_p.I1170fs|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1170	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTCATGTCAATTTTTTCAATC	0.411																																																	0																																										SO:0001589	frameshift_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3509dupA	12.37:g.12291363_12291363dupT	ENSP00000261349:p.Ile1170fs		Q17RZ2	Frame_Shift_Ins	INS	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I1170fs	ENST00000261349.4	37	c.3509_3508	CCDS8647.1	12																																																																																			LRP6	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.411	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-			12291358	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	12291358	-	T	12291357	7	5	24	1	0	1	1	0	0	0	0	0	8985	101	4	0	1364	0	LRP6	12	12291357	Frame_Shift_Ins	INS	-	TCGA-C5-A1MK-01A-11D-A14W-08	4989584	12291357	121560538	197	3618	16	2								
LRP6	4040	genome.wustl.edu	37	chr12	12291364	12291364	+	Missense_Mutation	SNP	C	C	G													0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acctgtcatgtcaattttttCaatcatttgctgctgtttat							TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:12291364C>G	ENST00000261349.4	-	16	3578	c.3502G>C	c.(3502-3504)Gaa>Caa	p.E1168Q	LRP6_ENST00000543091.1_Missense_Mutation_p.E1168Q|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1168	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAATTTTTTCAATCATTTGC	0.418																																																	0													255	228	237					12																	12291364		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3502G>C	12.37:g.12291364C>G	ENSP00000261349:p.Glu1168Gln		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1168Q	ENST00000261349.4	37	c.3502	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.145761	0.94603	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.90844	-2.74;-2.74	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000007	D	0.94873	0.8343	M	0.70903	2.155	0.80722	D	1	D;P	0.76494	0.999;0.861	D;B	0.78314	0.991;0.344	D	0.92860	0.6305	10	0.29301	T	0.29	.	19.9135	0.97033	0.0:1.0:0.0:0.0	.	1168;1168	F5H7J9;O75581	.;LRP6_HUMAN	Q	1168	ENSP00000261349:E1168Q;ENSP00000442472:E1168Q	ENSP00000261349:E1168Q	E	-	1	0	LRP6	12182631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.770000	0.68873	2.711000	0.92665	0.591000	0.81541	GAA	LRP6	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.418	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12291364	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12291364	C	G	12291364	3	3	24	1	0	0	0	0	1	0	0	0	8985	835	29	1	1371	1	LRP6	12	12291364	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7	12291364	121560531	198	3619	16	2								
LRP6	4040	genome.wustl.edu	37	chr12	12291406	12291406	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aatccaatagagccagttttCaaacacagtaagtcccacag	6	11	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:12291406C>G	ENST00000261349.4	-	16	3536	c.3460G>C	c.(3460-3462)Gaa>Caa	p.E1154Q	LRP6_ENST00000543091.1_Missense_Mutation_p.E1154Q|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1154	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGCCAGTTTTCAAACACAGTA	0.408																																																	0													188	176	180					12																	12291406		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3460G>C	12.37:g.12291406C>G	ENSP00000261349:p.Glu1154Gln		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1154Q	ENST00000261349.4	37	c.3460	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855761	0.71834	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91792	-2.91;-2.91	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.098563	0.43919	D	0.000506	D	0.92080	0.7490	M	0.76938	2.355	0.52099	D	0.999942	B;B	0.32862	0.321;0.387	B;B	0.29077	0.073;0.098	D	0.90735	0.4645	10	0.46703	T	0.11	.	19.9135	0.97033	0.0:1.0:0.0:0.0	.	1154;1154	F5H7J9;O75581	.;LRP6_HUMAN	Q	1154	ENSP00000261349:E1154Q;ENSP00000442472:E1154Q	ENSP00000261349:E1154Q	E	-	1	0	LRP6	12182673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.775000	0.68915	2.711000	0.92665	0.591000	0.81541	GAA	LRP6	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt		0.408	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	C			12291406	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12291406	C	G	12291406	3	3	24	1	0	0	0	0	1	0	0	0	8985	835	29	1	1413	1	LRP6	12	12291406	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	42	12291406	121560489	199	3620										
PYROXD1	79912	genome.wustl.edu	37	chr12	21621553	21621553	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtcatgcaaaatggacgaatGatgggagctgtcttaattgg	13	5	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:21621553G>A	ENST00000240651.9	+	12	1422	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.M385I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	456							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATGGACGAATGATGGGAGCTG	0.368																																																	0													88	81	84					12																	21621553		2203	4300	6503	SO:0001583	missense	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1368G>A	12.37:g.21621553G>A	ENSP00000240651:p.Met456Ile		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.M456I	ENST00000240651.9	37	c.1368	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131462	0.56828	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	L	0.43152	1.355	0.80722	D	1	B	0.24721	0.11	B	0.22880	0.042	T	0.50792	-0.8786	9	0.21014	T	0.42	.	17.3738	0.87386	0.0:0.0:1.0:0.0	.	456	Q8WU10	PYRD1_HUMAN	I	162;456;385	.	ENSP00000240651:M456I	M	+	3	0	PYROXD1	21512820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.678000	0.84035	2.391000	0.81399	0.563000	0.77884	ATG	PYROXD1	-	NULL		0.368	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	G	NM_024854		21621553	1	no_errors	ENST00000240651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21621553	G	A	21621553	3	1	24	1	0	0	0	0	1	0	0	0	12896	1290	45	1	1414	1	PYROXD1	12	21621553	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	9330147	21621553	112230342	200	3621										
ANO6	196527	genome.wustl.edu	37	chr12	45725117	45725117	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctgactccctcttttttaatGatggccagcgaagaattgac	8	10	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:45725117G>A	ENST00000320560.8	+	3	392	c.190G>A	c.(190-192)Gat>Aat	p.D64N	ANO6_ENST00000425752.2_Missense_Mutation_p.D64N|ANO6_ENST00000441606.2_Missense_Mutation_p.D46N|ANO6_ENST00000423947.3_Missense_Mutation_p.D85N|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.D64N	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	64					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTTTTTAATGATGGCCAGCG	0.294																																																	0													66	70	69					12																	45725117		2203	4298	6501	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.190G>A	12.37:g.45725117G>A	ENSP00000320087:p.Asp64Asn		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.D64N	ENST00000320560.8	37	c.190	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035109	0.93575	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.994;0.996;0.975	D	0.87449	0.2400	10	0.87932	D	0	.	18.3196	0.90232	0.0:0.0:1.0:0.0	.	46;85;64;64	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	N	64;85;64;64;46	ENSP00000391417:D64N;ENSP00000409126:D85N;ENSP00000413840:D64N;ENSP00000320087:D64N;ENSP00000413137:D46N	ENSP00000320087:D64N	D	+	1	0	ANO6	44011384	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.638000	0.83328	2.793000	0.96121	0.591000	0.81541	GAT	ANO6	-	NULL		0.294	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	G	XM_113743		45725117	1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45725117	G	A	45725117	3	1	24	1	0	0	0	0	1	0	0	0	701	1290	45	1	220	1	ANO6	12	45725117	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	24103564	45725117	88126778	201	3622										
ANO6	196527	genome.wustl.edu	37	chr12	45725130	45725130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttttaatgatggccagcgaaGaattgactttgttctagtat	9	5	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:45725130G>A	ENST00000320560.8	+	3	405	c.203G>A	c.(202-204)aGa>aAa	p.R68K	ANO6_ENST00000425752.2_Missense_Mutation_p.R68K|ANO6_ENST00000441606.2_Missense_Mutation_p.R50K|ANO6_ENST00000423947.3_Missense_Mutation_p.R89K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.R68K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	68					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGCCAGCGAAGAATTGACTTT	0.294																																																	0													70	75	73					12																	45725130		2203	4299	6502	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.203G>A	12.37:g.45725130G>A	ENSP00000320087:p.Arg68Lys		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.R68K	ENST00000320560.8	37	c.203	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872826	0.51695	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.17	5.17	0.71159	.	0.051200	0.85682	D	0.000000	T	0.48333	0.1494	L	0.27975	0.815	0.53688	D	0.999973	B;B;B;B	0.28512	0.196;0.093;0.214;0.042	B;B;B;B	0.24269	0.047;0.047;0.031;0.052	T	0.41662	-0.9496	10	0.11794	T	0.64	.	18.3196	0.90232	0.0:0.0:1.0:0.0	.	50;89;68;68	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	68;89;68;68;50	ENSP00000391417:R68K;ENSP00000409126:R89K;ENSP00000413840:R68K;ENSP00000320087:R68K;ENSP00000413137:R50K	ENSP00000320087:R68K	R	+	2	0	ANO6	44011397	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	5.909000	0.69923	2.793000	0.96121	0.591000	0.81541	AGA	ANO6	-	NULL		0.294	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	G	XM_113743		45725130	1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45725130	G	A	45725130	3	1	24	1	0	0	0	0	1	0	0	0	701	942	33	1	233	1	ANO6	12	45725130	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	13	45725130	88126765	202	3623										
PAN2	9924	genome.wustl.edu	37	chr12	56726779	56726779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtccagctccacattctgtaGcagacttgggttcaggtggg	13	10	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:56726779G>A	ENST00000425394.2	-	2	476	c.100C>T	c.(100-102)Cta>Tta	p.L34L	PAN2_ENST00000257931.5_Silent_p.L34L|PAN2_ENST00000548043.1_Silent_p.L34L|PAN2_ENST00000440411.3_Silent_p.L34L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	ACATTCTGTAGCAGACTTGGG	0.552																																																	0													106	93	97					12																	56726779		2203	4300	6503	SO:0001819	synonymous_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.100C>T	12.37:g.56726779G>A				Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.L34	ENST00000425394.2	37	c.100	CCDS44922.1	12																																																																																			PAN2	-	NULL		0.552	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	G	NM_014871		56726779	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56726779	G	A	56726779	2	1	24	1	0	0	0	0	0	0	0	1	11438	962	34	4		4	PAN2	12	56726779	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	11001649	56726779	77125116	203	3624										
AVPR1A	552	genome.wustl.edu	37	chr12	63544014	63544014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atgaaggtggcccagcagtcGcgggccttggtgacattgtt	15	9	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:63544014G>A	ENST00000299178.2	-	1	708	c.603C>T	c.(601-603)cgC>cgT	p.R201R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	201					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCAGCAGTCGCGGGCCTTGG	0.622																																																	0													58	60	59					12																	63544014		2203	4297	6500	SO:0001819	synonymous_variant	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.603C>T	12.37:g.63544014G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R201	ENST00000299178.2	37	c.603	CCDS8965.1	12																																																																																			AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	G			63544014	-1	no_errors	ENST00000299178	ensembl	human	known	70_37	silent	SNP	0.885	A	A	63544014	G	A	63544014	2	1	24	1	0	0	0	0	0	0	0	1	1232	1074	38	2		2	AVPR1A	12	63544014	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6817235	63544014	70307881	204	3625										
NUP107	57122	genome.wustl.edu	37	chr12	69082777	69082777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gatatcatcccctgtaatccGggaggcagaggtgacacgga	13	10	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:69082777G>A	ENST00000229179.4	+	2	376	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	15					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.R15L(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CCTGTAATCCGGGAGGCAGAG	0.368																																																	1	Substitution - Missense(1)	lung(1)											127	122	124					12																	69082777		2203	4300	6503	SO:0001583	missense	57122			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.44G>A	12.37:g.69082777G>A	ENSP00000229179:p.Arg15Gln		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.R15Q	ENST00000229179.4	37	c.44	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.263112	0.95399	.	.	ENSG00000111581	ENST00000229179	.	.	.	5.45	5.45	0.79879	.	0.124363	0.53938	D	0.000045	T	0.75191	0.3816	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73007	-0.4118	8	.	.	.	-19.8213	17.1594	0.86800	0.0:0.0:1.0:0.0	.	15	P57740	NU107_HUMAN	Q	15	.	.	R	+	2	0	NUP107	67369044	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	2.481000	0.45215	2.722000	0.93159	0.467000	0.42956	CGG	NUP107	-	NULL		0.368	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	G	NM_020401		69082777	1	no_errors	ENST00000229179	ensembl	human	known	70_37	missense	SNP	0.999	A	A	69082777	G	A	69082777	3	1	24	1	0	0	0	0	1	0	0	0	10777	1116	39	2	50	2	NUP107	12	69082777	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5538763	69082777	64769118	205	3626										
PTPRB	5787	genome.wustl.edu	37	chr12	70954692	70954692	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtgttccgattggaccccctGagatgactcacagaggctgg	13	11	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:70954692G>A	ENST00000261266.5	-	15	3566	c.3537C>T	c.(3535-3537)ctC>ctT	p.L1179L	PTPRB_ENST00000451516.2_Silent_p.L1089L|PTPRB_ENST00000334414.6_Silent_p.L1397L|PTPRB_ENST00000538708.1_Silent_p.L1089L|PTPRB_ENST00000551525.1_Silent_p.L1396L|PTPRB_ENST00000550358.1_Silent_p.L1309L|PTPRB_ENST00000550857.1_Silent_p.L1089L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1179	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGACCCCCTGAGATGACTCA	0.453																																																	0													109	99	102					12																	70954692		1871	4095	5966	SO:0001819	synonymous_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3537C>T	12.37:g.70954692G>A			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L1397	ENST00000261266.5	37	c.4191	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	G			70954692	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70954692	G	A	70954692	2	1	24	1	0	0	0	0	0	0	0	1	12826	1277	45	1		1	PTPRB	12	70954692	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1871915	70954692	62897203	206	3627										
NAV3	89795	genome.wustl.edu	37	chr12	78571090	78571090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaagccctcacaatctgcttCagcgtaagttgctccttctg	8	13	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:78571090C>T	ENST00000397909.2	+	27	5467	c.5294C>T	c.(5293-5295)tCa>tTa	p.S1765L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1765L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1588L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1765L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1765						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAATCTGCTTCAGCGTAAGTT	0.403										HNSCC(70;0.22)																																							0													98	88	91					12																	78571090		1887	4128	6015	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5294C>T	12.37:g.78571090C>T	ENSP00000381007:p.Ser1765Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1765L	ENST00000397909.2	37	c.5294		12	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930667	0.52866	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.95	5.95	0.96441	.	0.000000	0.36234	U	0.002718	D	0.92805	0.7712	L	0.43923	1.385	0.80722	D	1	P;B;P;P	0.42296	0.599;0.253;0.577;0.775	B;B;B;B	0.39660	0.284;0.088;0.13;0.306	D	0.93129	0.6531	10	0.87932	D	0	-12.0323	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1765;1588;1765;1765	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1765;1765;1765;1588;379;387	ENSP00000446132:S1765L;ENSP00000381007:S1765L;ENSP00000228327:S1765L;ENSP00000266692:S1588L;ENSP00000448303:S387L	ENSP00000228327:S1765L	S	+	2	0	NAV3	77095221	1.000000	0.71417	0.987000	0.45799	0.407000	0.30961	7.575000	0.82447	2.824000	0.97209	0.655000	0.94253	TCA	NAV3	-	NULL		0.403	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78571090	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78571090	C	T	78571090	3	4	24	1	0	0	0	0	1	0	0	0	10208	838	29	1	5400	1	NAV3	12	78571090	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7616398	78571090	55280805	207	3628										
MGAT4C	25834	genome.wustl.edu	37	chr12	86373204	86373204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaagtttccatttttgaattCtcctagtcttaagtaagtag	6	6	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:86373204C>T	ENST00000604798.1	-	8	2504	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MGAT4C_ENST00000549405.2_Missense_Mutation_p.E434K|MGAT4C_ENST00000393205.2_Missense_Mutation_p.E463K|MGAT4C_ENST00000552808.2_Missense_Mutation_p.E434K|MGAT4C_ENST00000548651.1_Missense_Mutation_p.E434K|MGAT4C_ENST00000332156.1_Missense_Mutation_p.E434K			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	434					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.E434K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTTTGAATTCTCCTAGTCTT	0.343																																																	1	Substitution - Missense(1)	skin(1)											76	76	76					12																	86373204		2203	4299	6502	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1300G>A	12.37:g.86373204C>T	ENSP00000474896:p.Glu434Lys		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.E463K	ENST00000604798.1	37	c.1387	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494119	0.26774	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.29142	1.6;1.58;1.6;1.6;1.6	5.76	5.76	0.90799	.	0.171785	0.49916	D	0.000132	T	0.31104	0.0786	L	0.57536	1.79	0.58432	D	0.999998	B;B	0.27450	0.179;0.179	B;B	0.24974	0.057;0.052	T	0.21348	-1.0248	10	0.06494	T	0.89	-0.5764	19.9607	0.97248	0.0:1.0:0.0:0.0	.	463;434	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	K	434;463;434;434;434;434	ENSP00000331664:E434K;ENSP00000376900:E463K;ENSP00000449022:E434K;ENSP00000446647:E434K;ENSP00000447253:E434K	ENSP00000331664:E434K	E	-	1	0	MGAT4C	84897335	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	GAA	MGAT4C	-	NULL		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373204	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86373204	C	T	86373204	3	4	24	1	0	0	0	0	1	0	0	0	9570	922	32	1	140	1	MGAT4C	12	86373204	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7802114	86373204	47478691	208	3629										
MGAT4C	25834	genome.wustl.edu	37	chr12	86373637	86373637	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aacagaccacggaaatgagtCaatagccaatcacaaggcat	8	10	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:86373637C>A	ENST00000604798.1	-	8	2071	c.867G>T	c.(865-867)ttG>ttT	p.L289F	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L289F|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L318F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L289F|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L289F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L289F			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	289					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGAAATGAGTCAATAGCCAAT	0.393																																																	0													72	71	71					12																	86373637		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.867G>T	12.37:g.86373637C>A	ENSP00000474896:p.Leu289Phe		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.L318F	ENST00000604798.1	37	c.954	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	6.399	0.441822	0.12164	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.75	2.95	0.34219	.	0.079191	0.49305	D	0.000143	T	0.68329	0.2989	M	0.73753	2.245	0.46874	D	0.999231	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.64976	-0.6280	10	0.49607	T	0.09	-4.0228	2.6942	0.05129	0.1163:0.4644:0.2259:0.1934	.	318;289	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	F	289;318;289;289;289;289;289	ENSP00000331664:L289F;ENSP00000376900:L318F;ENSP00000449022:L289F;ENSP00000446647:L289F;ENSP00000447253:L289F;ENSP00000449172:L289F	ENSP00000331664:L289F	L	-	3	2	MGAT4C	84897768	0.703000	0.27826	0.436000	0.26797	0.002000	0.02628	-0.215000	0.09279	0.362000	0.24319	-0.171000	0.13296	TTG	MGAT4C	-	pfam_Glyco_transf_54		0.393	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373637	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	missense	SNP	0.971	A	A	86373637	C	A	86373637	3	1	24	1	0	0	0	0	1	0	0	0	9570	825	29	3	573	3	MGAT4C	12	86373637	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	433	86373637	47478258	209	3630										
SART3	9733	genome.wustl.edu	37	chr12	108942982	108942982	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagttgtagtcatagacgttGatagacaactaacaggaaaa	9	6	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:108942982G>A	ENST00000228284.3	-	2	555	c.321C>T	c.(319-321)atC>atT	p.I107I	SART3_ENST00000552221.1_5'UTR|SART3_ENST00000431469.2_Silent_p.I107I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	107					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CATAGACGTTGATAGACAACT	0.438									Porokeratosis																																								0													90	77	81					12																	108942982		2203	4300	6503	SO:0001819	synonymous_variant	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.321C>T	12.37:g.108942982G>A			A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.I107	ENST00000228284.3	37	c.321	CCDS9117.1	12																																																																																			SART3	-	NULL		0.438	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	G			108942982	-1	no_errors	ENST00000228284	ensembl	human	known	70_37	silent	SNP	1.000	A	A	108942982	G	A	108942982	2	1	24	1	0	0	0	0	0	0	0	1	13877	1280	45	1		1	SART3	12	108942982	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	22569345	108942982	24908913	210	3631										
ACACB	32	genome.wustl.edu	37	chr12	109654655	109654655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcagttcaagccagacatgtCccaggtgctggactgcatct	11	12	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:109654655C>T	ENST00000338432.7	+	24	3613	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.S1165F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1165					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCAGACATGTCCCAGGTGCTG	0.532																																																	0													109	90	96					12																	109654655		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3494C>T	12.37:g.109654655C>T	ENSP00000341044:p.Ser1165Phe		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S1165F	ENST00000338432.7	37	c.3494	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455039	0.84209	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.48836	0.8;0.8	5.33	5.33	0.75918	Acetyl-CoA carboxylase, central domain (1);	0.278938	0.38111	N	0.001815	T	0.63094	0.2482	L	0.52573	1.65	0.80722	D	1	P	0.40230	0.708	P	0.56398	0.797	T	0.61252	-0.7100	10	0.54805	T	0.06	.	19.4891	0.95042	0.0:1.0:0.0:0.0	.	1165	O00763	ACACB_HUMAN	F	1165;1165;396	ENSP00000341044:S1165F;ENSP00000367079:S1165F	ENSP00000341044:S1165F	S	+	2	0	ACACB	108139038	0.996000	0.38824	0.954000	0.39281	0.997000	0.91878	3.355000	0.52262	2.679000	0.91253	0.650000	0.86243	TCC	ACACB	-	pfam_AcCoA_COase_cen		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	C	NM_001093		109654655	1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	0.998	T	T	109654655	C	T	109654655	3	4	24	1	0	0	0	0	1	0	0	0	107	855	30	1	3584	1	ACACB	12	109654655	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	711673	109654655	24197240	211	3632										
RAB35	11021	genome.wustl.edu	37	chr12	120541722	120541722	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atctccacggtccggatcttGaaatccactccgatcgtggt	9	13	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:120541722G>A	ENST00000229340.5	-	3	323	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RAB35_ENST00000534951.1_Silent_p.F45F	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	45					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TCCGGATCTTGAAATCCACTC	0.617																																																	0													96	108	104					12																	120541722		2201	4300	6501	SO:0001819	synonymous_variant	11021			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"RAB, member RAS oncogene"	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.135C>T	12.37:g.120541722G>A			B2R6E0|B4E390	Nonsense_Mutation	SNP	NULL	p.Q83*	ENST00000229340.5	37	c.247	CCDS41846.1	12																																																																																			RAB35	-	NULL		0.617	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	G			120541722	-1	no_errors	ENST00000544304	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	120541722	G	A	120541722	2	1	24	1	0	0	0	0	0	0	0	1	12955	1281	45	1		1	RAB35	12	120541722	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	10887067	120541722	13310173	212	3633										
GCN1L1	10985	genome.wustl.edu	37	chr12	120585024	120585024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agcagggtctgcaagcacttCtgggtcttcctggagggatc	14	10	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr12:120585024C>G	ENST00000300648.6	-	38	4791	c.4779G>C	c.(4777-4779)caG>caC	p.Q1593H		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1593					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAAGCACTTCTGGGTCTTCC	0.547																																																	0													75	81	79					12																	120585024		1978	4162	6140	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4779G>C	12.37:g.120585024C>G	ENSP00000300648:p.Gln1593His		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q1593H	ENST00000300648.6	37	c.4779	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578662	0.46006	.	.	ENSG00000089154	ENST00000300648	T	0.65364	-0.15	5.82	4.02	0.46733	Armadillo-like helical (1);Armadillo-type fold (1);	0.117629	0.64402	D	0.000012	T	0.58323	0.2114	N	0.22421	0.69	0.58432	D	0.999999	D	0.61080	0.989	P	0.55749	0.783	T	0.58736	-0.7584	10	0.52906	T	0.07	-22.446	9.6166	0.39696	0.0:0.728:0.0:0.272	.	1593	Q92616	GCN1L_HUMAN	H	1593	ENSP00000300648:Q1593H	ENSP00000300648:Q1593H	Q	-	3	2	GCN1L1	119069407	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.656000	0.37355	0.821000	0.34540	-0.216000	0.12614	CAG	GCN1L1	-	superfamily_ARM-type_fold		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	C			120585024	-1	no_errors	ENST00000300648	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120585024	C	G	120585024	3	3	24	1	0	0	0	0	1	0	0	0	6318	912	32	1	3320	1	GCN1L1	12	120585024	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	43302	120585024	13266871	213	3634										
LNX2	222484	genome.wustl.edu	37	chr13	28122532	28122532	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	actttgttcctctgctccttCaacatgggaactagtgcaga	8	11	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:28122532C>T	ENST00000316334.3	-	10	2142	c.2013G>A	c.(2011-2013)ttG>ttA	p.L671L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	671	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCTGCTCCTTCAACATGGGAA	0.458																																																	0													100	80	87					13																	28122532		2203	4300	6503	SO:0001819	synonymous_variant	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.2013G>A	13.37:g.28122532C>T			Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.L671	ENST00000316334.3	37	c.2013	CCDS9323.1	13																																																																																			LNX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.458	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	C			28122532	-1	no_errors	ENST00000316334	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28122532	C	T	28122532	2	4	24	1	0	0	0	0	0	0	0	1	8887	825	29	1		1	LNX2	13	28122532	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		28122532	87047346	214	3635										
FLT1	2321	genome.wustl.edu	37	chr13	29012465	29012465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gatttcactgtacatctctaCgaaaggtctacctgtatctg	7	10	4	0	rs373801409		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:29012465C>T	ENST00000282397.4	-	4	657	c.406G>A	c.(406-408)Gta>Ata	p.V136I	FLT1_ENST00000539099.1_Missense_Mutation_p.V136I|FLT1_ENST00000541932.1_Missense_Mutation_p.V136I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	136					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACATCTCTACGAAAGGTCTA	0.398													C|||	1	0.000199681	0	0	5008	,	,		19815	0		0	False		,,,				2504	0.001																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	100	85	90		406,406,406,406	-1.8	0.6	13		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FLT1	NM_001159920.1,NM_001160030.1,NM_001160031.1,NM_002019.4	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	136/688,136/734,136/542,136/1339	29012465	1,13005	2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.406G>A	13.37:g.29012465C>T	ENSP00000282397:p.Val136Ile		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.V136I	ENST00000282397.4	37	c.406	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	6.786	0.513968	0.12944	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.22945	1.93;1.93;1.93	6.03	-1.83	0.07833	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	0.337959	0.30695	N	0.009079	T	0.10294	0.0252	N	0.25789	0.76	0.38215	D	0.940576	B;B;B;B	0.17667	0.005;0.005;0.005;0.023	B;B;B;B	0.17433	0.018;0.018;0.018;0.006	T	0.40021	-0.9585	10	0.02654	T	1	.	3.595	0.08002	0.1252:0.5201:0.0898:0.2648	.	136;136;136;136	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	I	136	ENSP00000282397:V136I;ENSP00000437631:V136I;ENSP00000442630:V136I	ENSP00000282397:V136I	V	-	1	0	FLT1	27910465	0.950000	0.32346	0.605000	0.28930	0.993000	0.82548	0.085000	0.14912	-0.458000	0.07023	0.655000	0.94253	GTA	FLT1	-	prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			29012465	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.994	T	T	29012465	C	T	29012465	3	4	24	1	0	0	0	0	1	0	0	0	5959	536	19	2	3981	2	FLT1	13	29012465	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	889933	29012465	86157413	215	3636										
MTRF1	9617	genome.wustl.edu	37	chr13	41814474	41814474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccttgaggacaggcccacctCggggatgcgctgaactcggt	14	13	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:41814474C>T	ENST00000379480.4	-	6	893	c.793G>A	c.(793-795)Gag>Aag	p.E265K	MTRF1_ENST00000430347.2_Missense_Mutation_p.E278K|MTRF1_ENST00000379477.1_Missense_Mutation_p.E265K	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	265					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.E265K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		AGGCCCACCTCGGGGATGCGC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											125	108	114					13																	41814474		2203	4300	6503	SO:0001583	missense	9617			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.793G>A	13.37:g.41814474C>T	ENSP00000368793:p.Glu265Lys		B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.E278K	ENST00000379480.4	37	c.832	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415463	0.83449	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347	T;T;T	0.11495	2.77;2.77;2.77	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	N	0.12831	0.26	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.49953	0.627;0.532	T	0.07790	-1.0754	10	0.49607	T	0.09	-20.7415	19.9371	0.97144	0.0:1.0:0.0:0.0	.	278;265	B4DG01;O75570	.;RF1M_HUMAN	K	265;265;278	ENSP00000368793:E265K;ENSP00000368790:E265K;ENSP00000400031:E278K	ENSP00000368790:E265K	E	-	1	0	MTRF1	40712474	1.000000	0.71417	0.993000	0.49108	0.747000	0.42532	5.833000	0.69349	2.718000	0.92993	0.491000	0.48974	GAG	MTRF1	-	NULL		0.552	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	C	NM_004294		41814474	-1	no_errors	ENST00000430347	ensembl	human	known	70_37	missense	SNP	0.999	T	T	41814474	C	T	41814474	3	4	24	1	0	0	0	0	1	0	0	0	9982	893	31	1	564	1	MTRF1	13	41814474	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	12802009	41814474	73355404	216	3637										
C13orf31	144811	genome.wustl.edu	37	chr13	44455648	44455648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aagtctgccagcactgagagGaaaattaactattatcactt	7	8	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:44455648G>A	ENST00000441843.1	+	2	1012	c.527G>A	c.(526-528)gGa>gAa	p.G176E	LACC1_ENST00000325686.6_Missense_Mutation_p.G176E|CCDC122_ENST00000476570.2_5'Flank|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	176																	GCACTGAGAGGAAAATTAACT	0.333																																																	0													61	66	65					13																	44455648		2182	4295	6477	SO:0001583	missense	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.527G>A	13.37:g.44455648G>A	ENSP00000391747:p.Gly176Glu		A2A3Z6|Q8N8X5	Missense_Mutation	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.G176E	ENST00000441843.1	37	c.527	CCDS9391.1	13	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781917	0.90282	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.58506	0.33;0.33	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76179	-0.3054	9	.	.	.	-0.0505	19.5705	0.95413	0.0:0.0:1.0:0.0	.	176	Q8IV20	LACC1_HUMAN	E	176	ENSP00000391747:G176E;ENSP00000317619:G176E	.	G	+	2	0	LACC1	43353648	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.548000	0.82154	2.941000	0.99782	0.655000	0.94253	GGA	LACC1	-	superfamily_Cytotoxic_necrot_fac-like_cat		0.333	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	G	NM_153218		44455648	1	no_errors	ENST00000325686	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44455648	G	A	44455648	3	1	24	1	0	0	0	0	1	0	0	0	1730	1174	41	1	529	1	C13orf31	13	44455648	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2641174	44455648	70714230	217	3638										
UTP14C	9724	genome.wustl.edu	37	chr13	52604876	52604876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agcccagtgccaagaaaagaCgccagtttctcattaaagcc	8	12	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:52604876C>T	ENST00000521776.2	+	2	2669	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	646					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CAAGAAAAGACGCCAGTTTCT	0.532																																																	0													110	120	116					13																	52604876		2203	4300	6503	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1936C>T	13.37:g.52604876C>T	ENSP00000428619:p.Arg646Cys		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.R646C	ENST00000521776.2	37	c.1936	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	C	9.162	1.019017	0.19355	.	.	ENSG00000253797	ENST00000521776	T	0.21031	2.03	2.9	-4.93	0.03066	.	0.145765	0.64402	D	0.000010	T	0.19485	0.0468	M	0.76328	2.33	0.54753	D	0.999986	B	0.26602	0.154	B	0.24269	0.052	T	0.03514	-1.1029	9	.	.	.	-4.0351	11.724	0.51698	0.0:0.8081:0.0:0.1919	.	646	Q5TAP6	UT14C_HUMAN	C	646	ENSP00000428619:R646C	.	R	+	1	0	UTP14C	51502877	0.859000	0.29813	0.898000	0.35279	0.550000	0.35303	0.477000	0.22196	-1.567000	0.01671	-0.693000	0.03709	CGC	UTP14C	-	pfam_SSU_processome_Utp14		0.532	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	C	NM_021645		52604876	1	no_errors	ENST00000521776	ensembl	human	known	70_37	missense	SNP	0.953	T	T	52604876	C	T	52604876	3	4	24	1	0	0	0	0	1	0	0	0	17127	536	19	2	1938	2	UTP14C	13	52604876	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	8149228	52604876	62565002	218	3639										
RBM26	64062	genome.wustl.edu	37	chr13	79942903	79942903	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtttctttggcatgggtggtCttacgtaagagttatggtcc	13	6	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:79942903C>T	ENST00000438737.2	-	6	1297	c.857G>A	c.(856-858)aGa>aAa	p.R286K	RBM26_ENST00000267229.7_Missense_Mutation_p.R286K|RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000438724.1_Missense_Mutation_p.R286K			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	286					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CATGGGTGGTCTTACGTAAGA	0.383																																																	0													184	168	173					13																	79942903		2203	4300	6503	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.857G>A	13.37:g.79942903C>T	ENSP00000387531:p.Arg286Lys		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R286K	ENST00000438737.2	37	c.857		13	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883051	0.91740	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.44482	0.93;0.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.48642	1.525	0.58432	D	0.999998	D;D;P	0.60575	0.988;0.982;0.494	D;D;B	0.79108	0.992;0.952;0.166	T	0.51395	-0.8711	9	.	.	.	-16.8263	20.6525	0.99598	0.0:1.0:0.0:0.0	.	286;286;286	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	K	286;287;286;286	ENSP00000267229:R286K;ENSP00000390222:R286K	.	R	-	2	0	RBM26	78840904	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.558000	0.67319	2.890000	0.99128	0.585000	0.79938	AGA	RBM26	-	NULL		0.383	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	C	NM_022118		79942903	-1	no_errors	ENST00000327303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79942903	C	T	79942903	3	4	24	1	0	0	0	0	1	0	0	0	13156	913	32	1	2149	1	RBM26	13	79942903	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	27338027	79942903	35226975	219	3640										
SLITRK5	26050	genome.wustl.edu	37	chr13	88329227	88329227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcaggcgtcttctctggcttGaccctcctcaggctaaacct	8	15	4	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:88329227G>C	ENST00000325089.6	+	2	1803	c.1584G>C	c.(1582-1584)ttG>ttC	p.L528F	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L287F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	528					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTCTGGCTTGACCCTCCTCA	0.522																																																	0													69	71	70					13																	88329227		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1584G>C	13.37:g.88329227G>C	ENSP00000366283:p.Leu528Phe		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L528F	ENST00000325089.6	37	c.1584	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703449	0.30232	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.70749	-0.51;-0.51	5.01	3.1	0.35709	.	0.084915	0.47455	D	0.000227	T	0.81945	0.4930	M	0.80332	2.49	0.44175	D	0.996987	P;B	0.37370	0.592;0.363	P;P	0.54590	0.756;0.58	T	0.81984	-0.0682	9	.	.	.	-10.4205	14.4114	0.67117	0.0:0.2993:0.7007:0.0	.	287;528	B4DSH5;O94991	.;SLIK5_HUMAN	F	528;287	ENSP00000366283:L528F;ENSP00000442244:L287F	.	L	+	3	2	SLITRK5	87127228	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.295000	0.19065	1.053000	0.40415	0.561000	0.74099	TTG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88329227	1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	0.999	C	C	88329227	G	C	88329227	3	2	24	1	0	0	0	0	1	0	0	0	14776	1281	45	1	1586	1	SLITRK5	13	88329227	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8386324	88329227	26840651	220	3641										
IPO5	3843	genome.wustl.edu	37	chr13	98654945	98654945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaacattttccagcatccaaGagtaaggtatgcagcctgta	9	9	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:98654945G>C	ENST00000490680.1	+	12	1306	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	IPO5_ENST00000261574.5_Missense_Mutation_p.R432T|IPO5_ENST00000539640.1_Missense_Mutation_p.R289T			O00410	IPO5_HUMAN	importin 5	414					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CAGCATCCAAGAGTAAGGTAT	0.383																																																	0													103	104	104					13																	98654945		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1241G>C	13.37:g.98654945G>C	ENSP00000418393:p.Arg414Thr		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.R432T	ENST00000490680.1	37	c.1295		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.69|19.69	3.874927|3.874927	0.72180|0.72180	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	T|T	0.73088|0.73088	-0.4093|-0.4093	5|10	.|0.87932	.|D	.|0	-13.7241|-13.7241	19.3053|19.3053	0.94158|0.94158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;414;432	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	Q|T	416|432;414;414;289	.|ENSP00000261574:R432T;ENSP00000350219:R414T;ENSP00000418393:R414T;ENSP00000445126:R289T	.|ENSP00000261574:R432T	E|R	+|+	1|2	0|0	IPO5|IPO5	97452946|97452946	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.388000|0.388000	0.30384|0.30384	9.827000|9.827000	0.99397|0.99397	2.551000|2.551000	0.86045|0.86045	0.460000|0.460000	0.39030|0.39030	GAG|AGA	IPO5	-	pfam_HEAT,superfamily_ARM-type_fold		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	G	NM_002271		98654945	1	no_errors	ENST00000261574	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98654945	G	C	98654945	3	2	24	1	0	0	0	0	1	0	0	0	7816	942	33	1	1345	1	IPO5	13	98654945	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	10325718	98654945	16514933	221	3642										
SLC15A1	6564	genome.wustl.edu	37	chr13	99361909	99361909	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	atcacgatcaggatggcgttCacggtctgcagaggaagtgg	15	8	4	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:99361909C>G	ENST00000376503.5	-	14	1039	c.984G>C	c.(982-984)gtG>gtC	p.V328V		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	328					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGATGGCGTTCACGGTCTGCA	0.493																																																	0													159	133	142					13																	99361909		2203	4300	6503	SO:0001819	synonymous_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.984G>C	13.37:g.99361909C>G			Q5VW82	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V328	ENST00000376503.5	37	c.984	CCDS9489.1	13																																																																																			SLC15A1	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.493	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	C	NM_005073		99361909	-1	no_errors	ENST00000376503	ensembl	human	known	70_37	silent	SNP	0.998	G	G	99361909	C	G	99361909	2	3	24	1	0	0	0	0	0	0	0	1	14428	813	29	1		1	SLC15A1	13	99361909	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	706964	99361909	15807969	222	3643										
UPF3A	65110	genome.wustl.edu	37	chr13	115067351	115067351	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tttccagaaggagtgaggatGagcagagatgggggaaagga	18	3	0	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr13:115067351G>A	ENST00000375299.3	+	9	1209	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.E352K	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	385					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GAGTGAGGATGAGCAGAGATG	0.582																																																	0													32	28	29					13																	115067351		2203	4300	6503	SO:0001583	missense	65110			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1153G>A	13.37:g.115067351G>A	ENSP00000364448:p.Glu385Lys		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E385K	ENST00000375299.3	37	c.1153	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359180	0.61403	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.34275	1.37;1.37	5.14	5.14	0.70334	.	0.048133	0.85682	D	0.000000	T	0.62938	0.2469	M	0.78801	2.425	0.50813	D	0.999899	D;D	0.76494	0.999;0.998	D;D	0.77004	0.979;0.989	T	0.64279	-0.6445	9	.	.	.	-15.9347	18.9775	0.92743	0.0:0.0:1.0:0.0	.	352;385	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	K	385;352	ENSP00000364448:E385K;ENSP00000329592:E352K	.	E	+	1	0	UPF3A	114085453	1.000000	0.71417	0.748000	0.31131	0.032000	0.12392	6.038000	0.70964	2.558000	0.86282	0.655000	0.94253	GAG	UPF3A	-	NULL		0.582	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	G			115067351	1	no_errors	ENST00000375299	ensembl	human	known	70_37	missense	SNP	0.999	A	A	115067351	G	A	115067351	3	1	24	1	0	0	0	0	1	0	0	0	17036	1291	45	1	1187	1	UPF3A	13	115067351	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	15705442	115067351	102527	223	3644										
OR11H12	440153	genome.wustl.edu	37	chr14	19378189	19378189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgtgtgtgacccagggccacGatttgcattggattgtgttt	13	7	0	1	rs2212201		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:19378189G>T	ENST00000550708.1	+	1	668	c.596G>T	c.(595-597)cGa>cTa	p.R199L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGGGCCACGATTTGCATTG	0.433																																																	0													4	4	4					14																	19378189		1326	2875	4201	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.596G>T	14.37:g.19378189G>T	ENSP00000449002:p.Arg199Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R199L	ENST00000550708.1	37	c.596	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	g	0	-2.644232	0.00111	.	.	ENSG00000257115	ENST00000550708	T	0.00021	9.03	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.245959	0.20320	N	0.094649	T	0.00012	0.0000	N	0.00000	-4.185	0.22142	N	0.999331	B	0.02656	0.0	B	0.01281	0.0	T	0.54977	-0.8212	9	0.02654	T	1	.	4.8306	0.13437	0.0:0.0:0.3122:0.6878	.	199	B2RN74	O11HC_HUMAN	L	199	ENSP00000449002:R199L	ENSP00000449002:R199L	R	+	2	0	CR383656.1	18448189	0.000000	0.05858	0.203000	0.23512	0.050000	0.14768	0.578000	0.23773	-1.737000	0.01350	-2.446000	0.00210	CGA	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	G	NM_001013354		19378189	1	no_errors	ENST00000550708	ensembl	human	known	70_37	missense	SNP	0.000	T	T	19378189	G	T	19378189	3	4	24	1	0	0	0	0	1	0	0	0	10951	1058	37	3	598	3	OR11H12	14	19378189	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		19378189	87971351	224	3645										
OR4L1	122742	genome.wustl.edu	37	chr14	20528262	20528262	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tttactaggattttttggacGatgggaacttcaaattttct	8	5	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:20528262G>C	ENST00000315683.1	+	1	59	c.59G>C	c.(58-60)cGa>cCa	p.R20P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTTTGGACGATGGGAACTT	0.363																																																	1	Substitution - Missense(1)	skin(1)											162	170	167					14																	20528262		2203	4299	6502	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.59G>C	14.37:g.20528262G>C	ENSP00000319217:p.Arg20Pro		Q6IEZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20P	ENST00000315683.1	37	c.59	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	1.820	-0.472485	0.04445	.	.	ENSG00000176246	ENST00000315683	T	0.00492	7.01	3.84	-7.68	0.01268	.	2.863450	0.01157	N	0.006559	T	0.00300	0.0009	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	10	0.72032	D	0.01	.	5.5602	0.17140	0.1509:0.3179:0.4485:0.0827	.	20	Q8NH43	OR4L1_HUMAN	P	20	ENSP00000319217:R20P	ENSP00000319217:R20P	R	+	2	0	OR4L1	19598102	0.000000	0.05858	0.000000	0.03702	0.635000	0.38103	-6.842000	0.00052	-3.003000	0.00275	-2.322000	0.00252	CGA	OR4L1	-	NULL		0.363	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	G			20528262	1	no_errors	ENST00000315683	ensembl	human	known	70_37	missense	SNP	0.000	C	C	20528262	G	C	20528262	3	2	24	1	0	0	0	0	1	0	0	0	11098	1058	37	1	61	1	OR4L1	14	20528262	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1150073	20528262	86821278	225	3646										
FBXO33	254170	genome.wustl.edu	37	chr14	39868938	39868938	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gacttcaagcactttcagatCagagccccgaagacgagcaa	9	12	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:39868938C>T	ENST00000298097.7	-	4	1787	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	FBXO33_ENST00000554190.1_Silent_p.*90*	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	484					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ACTTTCAGATCAGAGCCCCGA	0.448																																																	0													81	69	73					14																	39868938		2203	4300	6503	SO:0001583	missense	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1450G>A	14.37:g.39868938C>T	ENSP00000298097:p.Asp484Asn		Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D484N	ENST00000298097.7	37	c.1450	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827670	0.50845	.	.	ENSG00000165355	ENST00000298097	T	0.29142	1.58	5.97	4.16	0.48862	.	0.181440	0.64402	N	0.000014	T	0.13286	0.0322	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.09271	-1.0682	9	.	.	.	-4.5676	12.2308	0.54486	0.0:0.8638:0.0:0.1362	.	484	Q7Z6M2	FBX33_HUMAN	N	484	ENSP00000298097:D484N	.	D	-	1	0	FBXO33	38938689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.271000	0.51608	1.537000	0.49254	0.655000	0.94253	GAT	FBXO33	-	NULL		0.448	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	C			39868938	-1	no_errors	ENST00000298097	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39868938	C	T	39868938	3	4	24	1	0	0	0	0	1	0	0	0	5761	826	29	1	221	1	FBXO33	14	39868938	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	19340676	39868938	67480602	226	3647										
PTGDR	5729	genome.wustl.edu	37	chr14	52735042	52735042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgcgcgctacctttcatgggCttcgggaagttcgtgcagta	13	10	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:52735042C>T	ENST00000306051.2	+	1	612	c.510C>T	c.(508-510)ggC>ggT	p.G170G	PTGDR_ENST00000553372.1_Silent_p.G170G	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	170					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTTTCATGGGCTTCGGGAAGT	0.627																																																	0													81	80	80					14																	52735042		2203	4300	6503	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.510C>T	14.37:g.52735042C>T			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.G170	ENST00000306051.2	37	c.510	CCDS9707.1	14																																																																																			PTGDR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt		0.627	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52735042	1	no_errors	ENST00000306051	ensembl	human	known	70_37	silent	SNP	1.000	T	T	52735042	C	T	52735042	2	4	24	1	0	0	0	0	0	0	0	1	12768	784	28	4		4	PTGDR	14	52735042	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	12866104	52735042	54614498	227	3648										
DDHD1	80821	genome.wustl.edu	37	chr14	53522414	53522414	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcctatatttgttatagattCtccatagtgtcggcgggaca	10	8	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:53522414C>T	ENST00000323669.5	-	10	2208	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.E737K|DDHD1_ENST00000395606.1_Missense_Mutation_p.E744K	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	737	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GTTATAGATTCTCCATAGTGT	0.408																																																	0													156	159	158					14																	53522414		2203	4300	6503	SO:0001583	missense	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2209G>A	14.37:g.53522414C>T	ENSP00000327104:p.Glu737Lys		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.E737K	ENST00000323669.5	37	c.2209	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007304	0.93287	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.97	5.97	0.96955	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.68317	2.08	0.80722	D	1	D;P;D;D	0.76494	0.999;0.532;0.999;0.967	D;B;D;P	0.87578	0.975;0.263;0.998;0.578	T	0.71265	-0.4644	9	0.22706	T	0.39	-21.374	20.4239	0.99064	0.0:1.0:0.0:0.0	.	133;744;737;737	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	K	737;744;737;608	.	ENSP00000327104:E737K	E	-	1	0	DDHD1	52592164	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	7.796000	0.85898	2.828000	0.97474	0.655000	0.94253	GAA	DDHD1	-	pfam_DDHD,pfscan_DDHD		0.408	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	C			53522414	-1	no_errors	ENST00000323669	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53522414	C	T	53522414	3	4	24	1	0	0	0	0	1	0	0	0	4331	922	32	1	509	1	DDHD1	14	53522414	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	787372	53522414	53827126	228	3649										
PLEKHG3	26030	genome.wustl.edu	37	chr14	65208765	65208765	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccaatggctttgacctgcatGagccactcttcatcctggag	9	13	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:65208765G>A	ENST00000394691.1	+	16	2677	c.2530G>A	c.(2530-2532)Gag>Aag	p.E844K	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E349K|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.E788K|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E377K|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	844							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGACCTGCATGAGCCACTCTT	0.617																																																	0													35	40	38					14																	65208765		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2530G>A	14.37:g.65208765G>A	ENSP00000378183:p.Glu844Lys		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E844K	ENST00000394691.1	37	c.2530		14	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803867	0.70682	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.64260	0.36;-0.09;1.26;1.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000007	T	0.76681	0.4021	L	0.52011	1.625	0.40881	D	0.983995	D;P;D;D	0.76494	0.998;0.946;0.998;0.999	D;P;D;D	0.83275	0.994;0.509;0.99;0.996	T	0.76926	-0.2778	10	0.72032	D	0.01	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	377;349;844;788	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	K	788;844;377;349	ENSP00000247226:E788K;ENSP00000378183:E844K;ENSP00000450945:E377K;ENSP00000450973:E349K	ENSP00000247226:E788K	E	+	1	0	PLEKHG3	64278518	1.000000	0.71417	0.965000	0.40720	0.772000	0.43724	2.883000	0.48554	2.894000	0.99253	0.655000	0.94253	GAG	PLEKHG3	-	NULL		0.617	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65208765	1	no_errors	ENST00000394691	ensembl	human	known	70_37	missense	SNP	0.988	A	A	65208765	G	A	65208765	3	1	24	1	0	0	0	0	1	0	0	0	12094	1291	45	1	2412	1	PLEKHG3	14	65208765	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	11686351	65208765	42140775	229	3650										
PLEKHG3	26030	genome.wustl.edu	37	chr14	65209118	65209118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcccctgagagggatgggaaGagccccactgtgccctgtct	14	13	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:65209118G>C	ENST00000394691.1	+	16	3030	c.2883G>C	c.(2881-2883)aaG>aaC	p.K961N	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.K466N|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.K905N|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.K494N|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	961							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGATGGGAAGAGCCCCACTG	0.602																																																	0													37	36	36					14																	65209118		2202	4300	6502	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2883G>C	14.37:g.65209118G>C	ENSP00000378183:p.Lys961Asn		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K961N	ENST00000394691.1	37	c.2883		14	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365632	0.24684	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60672	0.61;0.17;1.49;1.49	4.47	0.0791	0.14414	.	1.324060	0.04931	N	0.456774	T	0.32852	0.0843	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.41848	0.557;0.557;0.501;0.763	B;B;B;B	0.35971	0.215;0.167;0.081;0.167	T	0.21827	-1.0234	10	0.30854	T	0.27	.	1.4928	0.02460	0.2555:0.1532:0.4352:0.156	.	494;466;961;905	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	N	905;961;494;466	ENSP00000247226:K905N;ENSP00000378183:K961N;ENSP00000450945:K494N;ENSP00000450973:K466N	ENSP00000247226:K905N	K	+	3	2	PLEKHG3	64278871	0.001000	0.12720	0.000000	0.03702	0.069000	0.16628	0.881000	0.28173	0.293000	0.22520	0.655000	0.94253	AAG	PLEKHG3	-	NULL		0.602	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65209118	1	no_errors	ENST00000394691	ensembl	human	known	70_37	missense	SNP	0.000	C	C	65209118	G	C	65209118	3	2	24	1	0	0	0	0	1	0	0	0	12094	933	33	1	2765	1	PLEKHG3	14	65209118	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	353	65209118	42140422	230	3651										
ERH	2079	genome.wustl.edu	37	chr14	69864951	69864951	+	5'UTR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcggaggcctttctcaccatCgcgccaaactctcttcgcta	8	16	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:69864951C>G	ENST00000557016.1	-	0	393				SLC39A9_ENST00000031146.4_5'Flank|ERH_ENST00000216520.6_5'UTR|SLC39A9_ENST00000336643.5_5'Flank|ERH_ENST00000555373.1_5'UTR|SLC39A9_ENST00000557046.1_5'Flank|SLC39A9_ENST00000556605.1_5'Flank	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)						cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		TTCTCACCATCGCGCCAAACT	0.652																																																	0													30	31	31					14																	69864951		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55334			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"enhancer of rudimentary (Drosophila) homolog"			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.-1G>C	14.37:g.69864951C>G			B2R5H2|P70659|Q14259	RNA	SNP	-	NULL	ENST00000557016.1	37	NULL	CCDS9794.1	14																																																																																			SLC39A9	-	-		0.652	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A9	HGNC	protein_coding	OTTHUMT00000412990.1	C	NM_004450		69864951	1	no_errors	ENST00000556125	ensembl	human	known	70_37	rna	SNP	1.000	G	G	69864951	C	G	69864951	1	3	24	0	1	0	0	0	0	0	0	0	5238	899	31	1		1	ERH	14	69864951	5'UTR	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4655833	69864951	37484589	231	3652										
TMEM90A	646658	genome.wustl.edu	37	chr14	74876329	74876329	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagcgccacctaggaggtagGagtagagcttttcctggcag	14	10	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:74876329G>C	ENST00000554823.1	-	1	180	c.119C>G	c.(118-120)tCc>tGc	p.S40C	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.S40C			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	40					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TAGGAGGTAGGAGTAGAGCTT	0.687																																																	0													33	37	36					14																	74876329		1927	4138	6065	SO:0001583	missense	646658				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.119C>G	14.37:g.74876329G>C	ENSP00000450439:p.Ser40Cys			Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.S40C	ENST00000554823.1	37	c.119	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303062	0.40795	.	.	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	D;D	0.95788	-3.81;-3.81	4.44	3.55	0.40652	.	0.463268	0.23953	N	0.042929	D	0.91696	0.7375	N	0.22421	0.69	0.33033	D	0.530473	D	0.58620	0.983	P	0.47206	0.541	D	0.92718	0.6189	10	0.56958	D	0.05	-8.1025	10.6266	0.45510	0.089:0.0:0.911:0.0	.	40	A6NDD5	SYN1L_HUMAN	C	40	ENSP00000331474:S40C;ENSP00000450439:S40C	ENSP00000331474:S40C	S	-	2	0	SYNDIG1L	73946082	1.000000	0.71417	0.998000	0.56505	0.499000	0.33736	3.125000	0.50469	1.085000	0.41206	0.467000	0.42956	TCC	SYNDIG1L	-	NULL		0.687	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	G	XM_938515		74876329	-1	no_errors	ENST00000331628	ensembl	human	known	70_37	missense	SNP	0.940	C	C	74876329	G	C	74876329	3	2	24	1	0	0	0	0	1	0	0	0	16248	1174	41	1	609	1	TMEM90A	14	74876329	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5011378	74876329	32473211	232	3653										
TRAF3	7187	genome.wustl.edu	37	chr14	103336564	103336564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtcgagtaaaaagatggactCtcctggcgcgctgcagacta	12	10	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr14:103336564C>T	ENST00000560371.1	+	2	243	c.26C>T	c.(25-27)tCt>tTt	p.S9F	TRAF3_ENST00000539721.1_Missense_Mutation_p.S9F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S9F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S9F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S9F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	9					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAGATGGACTCTCCTGGCGCG	0.493																																																	0													66	69	68					14																	103336564		2203	4300	6503	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.26C>T	14.37:g.103336564C>T	ENSP00000454207:p.Ser9Phe		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S9F	ENST00000560371.1	37	c.26	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908536	0.33721	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.45668	2.21;2.21;2.21;0.89	5.2	5.2	0.72013	.	2.312790	0.01520	N	0.018309	T	0.33089	0.0851	N	0.08118	0	0.32969	D	0.522112	B;P;B	0.34462	0.25;0.454;0.138	B;B;B	0.27887	0.063;0.084;0.037	T	0.47509	-0.9112	10	0.59425	D	0.04	-2.1645	18.7386	0.91765	0.0:1.0:0.0:0.0	.	9;9;9	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	F	9	ENSP00000376500:S9F;ENSP00000328003:S9F;ENSP00000332468:S9F;ENSP00000445998:S9F	ENSP00000328003:S9F	S	+	2	0	TRAF3	102406317	0.081000	0.21417	0.102000	0.21198	0.019000	0.09904	4.046000	0.57376	2.432000	0.82394	0.655000	0.94253	TCT	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF		0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	C	NM_145725		103336564	1	no_errors	ENST00000392745	ensembl	human	known	70_37	missense	SNP	0.958	T	T	103336564	C	T	103336564	3	4	24	1	0	0	0	0	1	0	0	0	16470	913	32	1	28	1	TRAF3	14	103336564	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	28460235	103336564	4012976	233	3654										
PLCB2	5330	genome.wustl.edu	37	chr15	40582813	40582813	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttgtctgtggtgactttggtCatgccctggatccgctccag	12	11	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:40582813C>A	ENST00000260402.3	-	29	3423	c.3174G>T	c.(3172-3174)atG>atT	p.M1058I	PLCB2_ENST00000456256.2_Missense_Mutation_p.M1043I|PLCB2_ENST00000557821.1_Missense_Mutation_p.M1054I	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1058					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGACTTTGGTCATGCCCTGGA	0.577																																																	0													246	252	250					15																	40582813		2016	4181	6197	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3174G>T	15.37:g.40582813C>A	ENSP00000260402:p.Met1058Ile		A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.M1058I	ENST00000260402.3	37	c.3174	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072382	0.20147	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.38240	1.15;1.15	4.3	3.35	0.38373	PLC-beta, C-terminal (1);	0.481200	0.18192	N	0.148794	T	0.28366	0.0701	L	0.43152	1.355	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.05903	-1.0857	10	0.10636	T	0.68	.	13.0887	0.59156	0.0:0.8375:0.1625:0.0	.	1043;1054;1058	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	I	1058;1043	ENSP00000260402:M1058I;ENSP00000411991:M1043I	ENSP00000260402:M1058I	M	-	3	0	PLCB2	38370105	1.000000	0.71417	0.993000	0.49108	0.863000	0.49368	3.070000	0.50033	0.951000	0.37770	0.561000	0.74099	ATG	PLCB2	-	pirsf_PLC-beta,pfam_PLC-beta_C		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	C			40582813	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40582813	C	A	40582813	3	1	24	1	0	0	0	0	1	0	0	0	12052	826	29	3	399	3	PLCB2	15	40582813	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		40582813	61948579	234	3655										
TP53BP1	7158	genome.wustl.edu	37	chr15	43748527	43748527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcacatctacaatgacaacaCtggagtcctctgaagtagct	7	11	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:43748527C>A	ENST00000263801.3	-	12	2516	c.2264G>T	c.(2263-2265)aGt>aTt	p.S755I	TP53BP1_ENST00000450115.2_Missense_Mutation_p.S760I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S760I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S760I|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	755					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AATGACAACACTGGAGTCCTC	0.448								Other conserved DNA damage response genes																																									0													91	90	90					15																	43748527		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2264G>T	15.37:g.43748527C>A	ENSP00000263801:p.Ser755Ile		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S760I	ENST00000263801.3	37	c.2279	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172661	0.57584	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12984	3.58;3.58;3.58;3.58;2.63	5.25	5.25	0.73442	.	0.185751	0.47455	D	0.000236	T	0.22322	0.0538	N	0.19112	0.55	0.36158	D	0.847934	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	P;D;D;D	0.83275	0.89;0.991;0.996;0.996	T	0.11690	-1.0577	10	0.56958	D	0.05	-10.1359	12.7461	0.57281	0.0:0.8221:0.1779:0.0	.	760;755;760;760	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	755;760;760;760;760	ENSP00000263801:S755I;ENSP00000371475:S760I;ENSP00000371470:S760I;ENSP00000393497:S760I;ENSP00000388028:S760I	ENSP00000263801:S755I	S	-	2	0	TP53BP1	41535819	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.367000	0.34204	2.605000	0.88082	0.563000	0.77884	AGT	TP53BP1	-	NULL		0.448	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43748527	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.983	A	A	43748527	C	A	43748527	3	1	24	1	0	0	0	0	1	0	0	0	16414	565	20	4	3722	4	TP53BP1	15	43748527	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3165714	43748527	58782865	235	3656										
DUOXA1	90527	genome.wustl.edu	37	chr15	45411371	45411371	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccttggtggaggaagcctctGacaggggaatgtcctgggac	16	9	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:45411371G>C	ENST00000560572.1	-	6	970	c.965C>G	c.(964-966)tCa>tGa	p.S322*	DUOXA1_ENST00000430224.2_Nonsense_Mutation_p.S277*|DUOXA1_ENST00000559014.1_Nonsense_Mutation_p.S322*|DUOXA1_ENST00000267803.4_Nonsense_Mutation_p.S322*|DUOXA1_ENST00000558422.1_Nonsense_Mutation_p.S277*|DUOXA1_ENST00000558996.1_Nonsense_Mutation_p.S277*	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	322					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGAAGCCTCTGACAGGGGAAT	0.577																																																	0													103	104	104					15																	45411371		2198	4298	6496	SO:0001587	stop_gained	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.965C>G	15.37:g.45411371G>C	ENSP00000454084:p.Ser322*		Q8N6K9|Q96MI4	Nonsense_Mutation	SNP	pfam_Dual_oxidase_maturation_fac	p.S322*	ENST00000560572.1	37	c.965		15	.	.	.	.	.	.	.	.	.	.	G	32	5.161757	0.94727	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	.	.	.	5.95	4.1	0.47936	.	0.208219	0.33057	N	0.005326	.	.	.	.	.	.	0.51012	D	0.999905	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.2335	9.2981	0.37829	0.1619:0.0:0.8381:0.0	.	.	.	.	X	322;277	.	ENSP00000267803:S322X	S	-	2	0	DUOXA1	43198663	0.338000	0.24775	0.963000	0.40424	0.103000	0.19146	1.227000	0.32576	0.867000	0.35654	0.655000	0.94253	TCA	DUOXA1	-	NULL		0.577	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	DUOXA1	HGNC	protein_coding	OTTHUMT00000416242.1	G	NM_144565		45411371	-1	no_errors	ENST00000267803	ensembl	human	known	70_37	nonsense	SNP	0.996	C	C	45411371	G	C	45411371	4	2	24	1	0	0	0	0	0	1	0	0	4812	1294	45	1	498	1	DUOXA1	15	45411371	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1662844	45411371	57120021	236	3657										
SEMA6D	80031	genome.wustl.edu	37	chr15	48056112	48056112	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggttcccagcgggtcctggaGaaacactggacttcatttct	11	11	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:48056112G>A	ENST00000316364.5	+	10	1252	c.813G>A	c.(811-813)gaG>gaA	p.E271E	SEMA6D_ENST00000389428.3_Silent_p.E271E|SEMA6D_ENST00000558014.1_Silent_p.E271E|SEMA6D_ENST00000389432.2_Silent_p.E271E|SEMA6D_ENST00000355997.3_Silent_p.E271E|SEMA6D_ENST00000389433.2_Silent_p.E271E|SEMA6D_ENST00000537942.1_Silent_p.E271E|SEMA6D_ENST00000354744.4_Silent_p.E271E|SEMA6D_ENST00000558816.1_Silent_p.E271E|SEMA6D_ENST00000358066.4_Silent_p.E271E|SEMA6D_ENST00000536845.2_Silent_p.E271E|SEMA6D_ENST00000389425.3_Silent_p.E271E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	271	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGGTCCTGGAGAAACACTGGA	0.478																																																	0													156	145	148					15																	48056112		2198	4297	6495	SO:0001819	synonymous_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.813G>A	15.37:g.48056112G>A			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E271	ENST00000316364.5	37	c.813	CCDS32225.1	15																																																																																			SEMA6D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.478	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	G	NM_024966		48056112	1	no_errors	ENST00000316364	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48056112	G	A	48056112	2	1	24	1	0	0	0	0	0	0	0	1	14072	933	33	1		1	SEMA6D	15	48056112	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2644741	48056112	54475280	237	3658										
ADAM10	102	genome.wustl.edu	37	chr15	59009816	59009816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tagacgtaaaaattggtcttCatgtgagactgctcttttgg	10	6	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:59009816C>T	ENST00000260408.3	-	2	609	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	56					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATTGGTCTTCATGTGAGACT	0.343																																																	0													157	136	143					15																	59009816		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.166G>A	15.37:g.59009816C>T	ENSP00000260408:p.Glu56Lys		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E56K	ENST00000260408.3	37	c.166	CCDS10167.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965811	0.74131	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.05649	3.41;3.41	4.88	4.88	0.63580	Peptidase M12B, propeptide (1);	0.046679	0.85682	D	0.000000	T	0.07954	0.0199	L	0.40543	1.245	0.80722	D	1	B;B	0.29805	0.027;0.257	B;B	0.36030	0.038;0.216	T	0.10132	-1.0643	10	0.06236	T	0.91	-21.7657	18.3877	0.90472	0.0:1.0:0.0:0.0	.	56;56	A0AV88;O14672	.;ADA10_HUMAN	K	56	ENSP00000260408:E56K;ENSP00000391930:E56K	ENSP00000260408:E56K	E	-	1	0	ADAM10	56797108	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.879000	0.48522	2.402000	0.81655	0.563000	0.77884	GAA	ADAM10	-	pfam_Peptidase_M12B_N		0.343	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM10	HGNC	protein_coding	OTTHUMT00000255880.2	C	NM_001110		59009816	-1	no_errors	ENST00000260408	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59009816	C	T	59009816	3	4	24	1	0	0	0	0	1	0	0	0	234	835	29	1	2140	1	ADAM10	15	59009816	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	10953704	59009816	43521576	238	3659										
IQCH	64799	genome.wustl.edu	37	chr15	67571776	67571776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agaaatcatttattttccctCaggaatctgagggtacattt	7	7	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:67571776C>G	ENST00000335894.4	+	4	379	c.313C>G	c.(313-315)Cag>Gag	p.Q105E	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.Q105E	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	105										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TATTTTCCCTCAGGAATCTGA	0.348																																																	0													49	48	48					15																	67571776		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.313C>G	15.37:g.67571776C>G	ENSP00000336861:p.Gln105Glu		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.Q105E	ENST00000335894.4	37	c.313	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945264	0.34283	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	T	0.42513	0.97	5.26	2.25	0.28309	.	0.630884	0.14624	N	0.308207	T	0.16300	0.0392	N	0.08118	0	0.40674	D	0.98224	B;B	0.25521	0.053;0.128	B;B	0.25987	0.063;0.065	T	0.19063	-1.0317	10	0.02654	T	1	-0.0027	4.1589	0.10273	0.1929:0.614:0.0:0.193	.	105;105	Q86VS3;B4E2J4	IQCH_HUMAN;.	E	105	ENSP00000336861:Q105E	ENSP00000336861:Q105E	Q	+	1	0	IQCH	65358830	0.027000	0.19231	0.997000	0.53966	0.976000	0.68499	-0.585000	0.05794	0.669000	0.31146	-0.136000	0.14681	CAG	IQCH	-	NULL		0.348	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	C	NM_022784		67571776	1	no_errors	ENST00000335894	ensembl	human	known	70_37	missense	SNP	0.672	G	G	67571776	C	G	67571776	3	3	24	1	0	0	0	0	1	0	0	0	7831	827	29	1	327	1	IQCH	15	67571776	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	8561960	67571776	34959616	239	3660										
KIF23	9493	genome.wustl.edu	37	chr15	69718494	69718494	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aagttgaagtgaaatctactGaggaggcttttgaagttttc	11	4	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:69718494G>A	ENST00000260363.4	+	8	937	c.820G>A	c.(820-822)Gag>Aag	p.E274K	KIF23_ENST00000352331.4_Missense_Mutation_p.E274K|KIF23_ENST00000558585.1_Missense_Mutation_p.E91K|KIF23_ENST00000395392.2_Missense_Mutation_p.E274K|KIF23_ENST00000537891.1_Missense_Mutation_p.E91K|KIF23_ENST00000559279.1_Missense_Mutation_p.E274K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	274	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GAAATCTACTGAGGAGGCTTT	0.368																																																	0													79	81	80					15																	69718494		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.820G>A	15.37:g.69718494G>A	ENSP00000260363:p.Glu274Lys		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E274K	ENST00000260363.4	37	c.820	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.272795	0.95429	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.87	5.87	0.94306	Kinesin, motor domain (4);	0.045991	0.85682	D	0.000000	D	0.86615	0.5975	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.997	P;D;D	0.80764	0.833;0.994;0.958	D	0.83526	0.0088	10	0.31617	T	0.26	.	19.1915	0.93669	0.0:0.0:1.0:0.0	.	91;274;274	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	274;274;274;91	ENSP00000260363:E274K;ENSP00000304978:E274K;ENSP00000378790:E274K;ENSP00000442969:E91K	ENSP00000260363:E274K	E	+	1	0	KIF23	67505548	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.612000	0.98347	2.779000	0.95612	0.655000	0.94253	GAG	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69718494	1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69718494	G	A	69718494	3	1	24	1	0	0	0	0	1	0	0	0	8311	1291	45	1	850	1	KIF23	15	69718494	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2146718	69718494	32812898	240	3661										
LRRK1	79705	genome.wustl.edu	37	chr15	101561369	101561369	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttgcctactgaagagcttatCagagctctacttgggaaagt	10	8	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:101561369C>T	ENST00000388948.3	+	13	2080	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L	LRRK1_ENST00000284395.5_Missense_Mutation_p.S571L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGAGCTTATCAGAGCTCTAC	0.542																																																	0													67	65	66					15																	101561369		1912	4114	6026	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1721C>T	15.37:g.101561369C>T	ENSP00000373600:p.Ser574Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S574L	ENST00000388948.3	37	c.1721	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184689	0.38609	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.24538	1.85;1.85	5.77	5.77	0.91146	.	0.374780	0.24200	N	0.040631	T	0.20901	0.0503	N	0.16307	0.4	0.32688	N	0.514609	B	0.15473	0.013	B	0.15870	0.014	T	0.13335	-1.0513	10	0.66056	D	0.02	.	18.9765	0.92738	0.0:1.0:0.0:0.0	.	574	Q38SD2	LRRK1_HUMAN	L	574;571	ENSP00000373600:S574L;ENSP00000284395:S571L	ENSP00000284395:S571L	S	+	2	0	LRRK1	99378892	0.711000	0.27906	0.507000	0.27676	0.472000	0.32918	2.536000	0.45693	2.722000	0.93159	0.555000	0.69702	TCA	LRRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.542	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101561369	1	no_errors	ENST00000388948	ensembl	human	known	70_37	missense	SNP	0.659	T	T	101561369	C	T	101561369	3	4	24	1	0	0	0	0	1	0	0	0	9055	838	29	1	1767	1	LRRK1	15	101561369	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	31842875	101561369	970023	241	3662										
LRRK1	79705	genome.wustl.edu	37	chr15	101598292	101598292	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaagcagacagccttcttctCatcccagggccaggagtaca	10	13	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr15:101598292C>G	ENST00000388948.3	+	29	4984	c.4625C>G	c.(4624-4626)tCa>tGa	p.S1542*	LRRK1_ENST00000284395.5_Nonsense_Mutation_p.S1539*|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTTCTTCTCATCCCAGGGC	0.582																																																	0													74	74	74					15																	101598292		1971	4153	6124	SO:0001587	stop_gained	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4625C>G	15.37:g.101598292C>G	ENSP00000373600:p.Ser1542*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S1542*	ENST00000388948.3	37	c.4625	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081130	0.55753	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	.	.	.	4.57	4.57	0.56435	.	0.307278	0.29185	N	0.012897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.5088	0.67769	0.0:0.8418:0.1582:0.0	.	.	.	.	X	1542;1539;233;96	.	ENSP00000284395:S1539X	S	+	2	0	LRRK1	99415815	1.000000	0.71417	0.930000	0.37139	0.083000	0.17756	4.119000	0.57891	2.261000	0.74972	0.561000	0.74099	TCA	LRRK1	-	NULL		0.582	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101598292	1	no_errors	ENST00000388948	ensembl	human	known	70_37	nonsense	SNP	0.954	G	G	101598292	C	G	101598292	4	3	24	1	0	0	0	0	0	1	0	0	9055	838	29	1	4735	1	LRRK1	15	101598292	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	36923	101598292	933100	242	3663										
RHBDF1	64285	genome.wustl.edu	37	chr16	114768	114768	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agctcatggtggggtgaagaGatgtgggctgtctcggctgg	19	6	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:114768G>C	ENST00000262316.6	-	3	319	c.177C>G	c.(175-177)atC>atG	p.I59M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.I59M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	59					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGGGTGAAGAGATGTGGGCTG	0.637																																																	0													101	104	103					16																	114768		2203	4300	6503	SO:0001583	missense	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.177C>G	16.37:g.114768G>C	ENSP00000262316:p.Ile59Met		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.I59M	ENST00000262316.6	37	c.177	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	.	5.322	0.244747	0.10077	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545;ENST00000419764	T;T;D	0.85955	0.76;-0.11;-2.05	5.62	-2.5	0.06384	.	0.710054	0.14087	N	0.342301	T	0.72061	0.3414	N	0.22421	0.69	0.09310	N	1	B;B;B	0.19935	0.04;0.029;0.0	B;B;B	0.18263	0.02;0.021;0.002	T	0.59101	-0.7517	10	0.34782	T	0.22	-16.2276	11.0697	0.47995	0.0712:0.6699:0.168:0.0908	.	59;82;59	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	M	59	ENSP00000262316:I59M;ENSP00000392133:I59M;ENSP00000408915:I59M	ENSP00000262316:I59M	I	-	3	3	RHBDF1	54768	0.117000	0.22190	0.002000	0.10522	0.143000	0.21401	-0.156000	0.10100	-0.003000	0.14444	0.655000	0.94253	ATC	RHBDF1	-	NULL		0.637	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	G	NM_022450		114768	-1	no_errors	ENST00000262316	ensembl	human	known	70_37	missense	SNP	0.016	C	C	114768	G	C	114768	3	2	24	1	0	0	0	0	1	0	0	0	13349	932	33	1	2454	1	RHBDF1	16	114768	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		114768	90239985	243	3664										
RNF151	146310	genome.wustl.edu	37	chr16	2017754	2017754	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cctgtccgtgctgtaggaaaGaggtgaaaaggaaaaaggtt	14	5	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:2017754G>C	ENST00000569714.1	+	3	186	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	RPS2_ENST00000343262.4_5'Flank|RNF151_ENST00000321392.3_Missense_Mutation_p.E59Q|SNHG9_ENST00000459373.1_lincRNA|RNF151_ENST00000569210.2_Intron|RPS2_ENST00000529806.1_5'Flank|RPS2_ENST00000526522.1_5'Flank	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	60					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CTGTAGGAAAGAGGTGAAAAG	0.532																																																	0													67	64	65					16																	2017754		1915	4135	6050	SO:0001583	missense	146310			BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.178G>C	16.37:g.2017754G>C	ENSP00000456566:p.Glu60Gln		Q8NHS5	Missense_Mutation	SNP	pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF	p.E60Q	ENST00000569714.1	37	c.178	CCDS58405.1	16	.	.	.	.	.	.	.	.	.	.	g	9.236	1.036961	0.19669	.	.	ENSG00000179580	ENST00000321392	D	0.86164	-2.08	4.73	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);	0.634801	0.15297	N	0.269834	T	0.81631	0.4863	L	0.39467	1.215	0.29999	N	0.816196	B	0.17465	0.022	B	0.23716	0.048	T	0.70699	-0.4800	10	0.18276	T	0.48	-13.7548	12.7767	0.57453	0.0:0.1662:0.8337:0.0	.	60	Q2KHN1	RN151_HUMAN	Q	59	ENSP00000325794:E59Q	ENSP00000325794:E59Q	E	+	1	0	RNF151	1957755	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	1.857000	0.39399	0.979000	0.38497	-0.264000	0.10439	GAG	RNF151	-	pfam_Ubox_domain		0.532	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF151	HGNC	protein_coding	OTTHUMT00000434030.1	G	NM_174903		2017754	1	no_errors	ENST00000569714	ensembl	human	known	70_37	missense	SNP	0.966	C	C	2017754	G	C	2017754	3	2	24	1	0	0	0	0	1	0	0	0	13482	943	33	1	188	1	RNF151	16	2017754	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1902986	2017754	88336999	244	3665										
ADCY9	115	genome.wustl.edu	37	chr16	4016390	4016390	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	catgttgttgttgaagtcgtCcaccacgcgcatcatctcct	8	13	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:4016390C>G	ENST00000294016.3	-	11	3986	c.3448G>C	c.(3448-3450)Gac>Cac	p.D1150H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1150	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGAAGTCGTCCACCACGCGC	0.632																																																	0													113	92	99					16																	4016390		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3448G>C	16.37:g.4016390C>G	ENSP00000294016:p.Asp1150His		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D1150H	ENST00000294016.3	37	c.3448	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982166	0.74474	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.52	4.54	0.55810	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.52126	1.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.87810	0.2631	10	0.62326	D	0.03	.	15.7648	0.78117	0.1375:0.8625:0.0:0.0	.	1150	O60503	ADCY9_HUMAN	H	1150	ENSP00000294016:D1150H	ENSP00000294016:D1150H	D	-	1	0	ADCY9	3956391	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.776000	0.85560	1.399000	0.46721	0.655000	0.94253	GAC	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.632	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4016390	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4016390	C	G	4016390	3	3	24	1	0	0	0	0	1	0	0	0	301	855	30	1	617	1	ADCY9	16	4016390	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1998636	4016390	86338363	245	3666										
SNX29	92017	genome.wustl.edu	37	chr16	12155423	12155423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctgcctctcccagatgcacaGctgggctccgctgaaggtgc	12	15	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:12155423G>A	ENST00000566228.1	+	9	1232	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N	SNX29_ENST00000323433.4_Missense_Mutation_p.S3N|SNX29_ENST00000306030.3_Missense_Mutation_p.S3N	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	388						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGATGCACAGCTGGGCTCCG	0.592																																																	0													38	42	41					16																	12155423		2192	4290	6482	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1163G>A	16.37:g.12155423G>A	ENSP00000456480:p.Ser388Asn		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S3N	ENST00000566228.1	37	c.8	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198686	0.58126	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.7	5.7	0.88788	Phox homologous domain (1);	.	.	.	.	T	0.44685	0.1305	L	0.47716	1.5	0.23677	N	0.997135	B	0.27498	0.18	B	0.24269	0.052	T	0.33929	-0.9849	8	0.39692	T	0.17	-1.2004	16.5664	0.84599	0.0:0.0:1.0:0.0	.	388	Q8TEQ0	SNX29_HUMAN	N	3	.	ENSP00000306940:S3N	S	+	2	0	SNX29	12062924	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	2.989000	0.49393	2.688000	0.91661	0.655000	0.94253	AGC	SNX29	-	NULL		0.592	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	G			12155423	1	no_errors	ENST00000306030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12155423	G	A	12155423	3	1	24	1	0	0	0	0	1	0	0	0	14928	971	34	4	10	4	SNX29	16	12155423	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8139033	12155423	78199330	246	3667										
UQCRC2	7385	genome.wustl.edu	37	chr16	21964776	21964776	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaccagagccggctctttctCggtgagctcaggtggcgggt	15	11	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:21964776C>T	ENST00000268379.4	+	1	796	c.32C>T	c.(31-33)tCg>tTg	p.S11L	UQCRC2_ENST00000561553.1_Splice_Site_p.S11L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	11					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGCTCTTTCTCGGTGAGCTCA	0.577																																					Colon(123;450 1645 12841 25393 45623)												0													50	52	51					16																	21964776		2198	4300	6498	SO:0001630	splice_region_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.33+1C>T	16.37:g.21964776C>T			B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.S11L	ENST00000268379.4	37	c.32	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612767	0.66672	.	.	ENSG00000140740	ENST00000268379	T	0.11930	2.73	5.26	5.26	0.73747	.	0.057508	0.64402	D	0.000001	T	0.15912	0.0383	L	0.59436	1.845	0.43714	D	0.996183	B	0.09022	0.002	B	0.04013	0.001	T	0.03202	-1.1061	10	0.23891	T	0.37	-1.6144	14.7239	0.69329	0.0:1.0:0.0:0.0	.	11	P22695	QCR2_HUMAN	L	11	ENSP00000268379:S11L	ENSP00000268379:S11L	S	+	2	0	UQCRC2	21872277	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	3.494000	0.53273	2.592000	0.87571	0.655000	0.94253	TCG	UQCRC2	-	NULL		0.577	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	C	NM_003366	Missense_Mutation	21964776	1	no_errors	ENST00000268379	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21964776	C	T	21964776	5	4	24	1	0	0	0	0	0	0	1	0	17051	898	31	1	34	1	UQCRC2	16	21964776	Splice_Site	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	9809353	21964776	68389977	247	3668										
AQP8	343	genome.wustl.edu	37	chr16	25232864	25232864	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctcctcccgtactgggtctCacagctgctcggggggatgc	14	14	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:25232864C>T	ENST00000219660.5	+	3	472	c.347C>T	c.(346-348)tCa>tTa	p.S116L	AQP8_ENST00000566125.1_Missense_Mutation_p.S110L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	116					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TACTGGGTCTCACAGCTGCTC	0.627																																																	0													90	82	85					16																	25232864		2197	4300	6497	SO:0001583	missense	343			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"Ion channels / Aquaporins"	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.347C>T	16.37:g.25232864C>T	ENSP00000219660:p.Ser116Leu		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP	p.S116L	ENST00000219660.5	37	c.347	CCDS10626.1	16	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276788	0.40294	.	.	ENSG00000103375	ENST00000219660	D	0.93019	-3.15	5.63	3.61	0.41365	Aquaporin-like (2);	0.404206	0.29692	N	0.011451	D	0.93769	0.8008	M	0.87547	2.89	0.44012	D	0.99672	B	0.22541	0.071	B	0.23716	0.048	D	0.91334	0.5092	10	0.87932	D	0	-13.4334	14.3825	0.66921	0.0:0.5371:0.4629:0.0	.	116	O94778	AQP8_HUMAN	L	116	ENSP00000219660:S116L	ENSP00000219660:S116L	S	+	2	0	AQP8	25140365	0.013000	0.17824	0.973000	0.42090	0.316000	0.28119	1.023000	0.30065	0.674000	0.31244	-0.176000	0.13171	TCA	AQP8	-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP		0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP8	HGNC	protein_coding	OTTHUMT00000214102.2	C	NM_001169		25232864	1	no_errors	ENST00000219660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25232864	C	T	25232864	3	4	24	1	0	0	0	0	1	0	0	0	832	838	29	1	357	1	AQP8	16	25232864	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3268088	25232864	65121889	248	3669										
INO80E	283899	genome.wustl.edu	37	chr16	30016734	30016734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acgatgccttggatggagacGatgacctggtgatcgacatc	13	9	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:30016734G>A	ENST00000563197.1	+	7	1723	c.706G>A	c.(706-708)Gat>Aat	p.D236N	INO80E_ENST00000567705.1_Missense_Mutation_p.D219N|INO80E_ENST00000304516.7_Missense_Mutation_p.D197N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	236					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						GGATGGAGACGATGACCTGGT	0.672											OREG0023725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	51	56					16																	30016734		2196	4299	6495	SO:0001583	missense	283899			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"INO80 complex subunits"	26905	protein-coding gene	gene with protein product			"coiled-coil domain containing 95"	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.706G>A	16.37:g.30016734G>A	ENSP00000457016:p.Asp236Asn	814	Q6Y2K3	Missense_Mutation	SNP	NULL	p.D236N	ENST00000563197.1	37	c.706	CCDS10665.1	16	.	.	.	.	.	.	.	.	.	.	G	7.691	0.691040	0.15039	.	.	ENSG00000169592	ENST00000304516	.	.	.	5.28	4.32	0.51571	.	0.153244	0.56097	D	0.000021	T	0.67915	0.2944	L	0.43152	1.355	0.37305	D	0.908868	D	0.76494	0.999	D	0.74023	0.982	T	0.74542	-0.3631	9	0.72032	D	0.01	-2.9172	13.7608	0.62966	0.0:0.1552:0.8448:0.0	.	236	Q8NBZ0	IN80E_HUMAN	N	236	.	ENSP00000303977:D236N	D	+	1	0	INO80E	29924235	1.000000	0.71417	0.970000	0.41538	0.024000	0.10985	5.909000	0.69923	1.217000	0.43442	-0.304000	0.09214	GAT	INO80E	-	NULL		0.672	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80E	HGNC	protein_coding	OTTHUMT00000255156.2	G	NM_173618		30016734	1	no_errors	ENST00000563197	ensembl	human	known	70_37	missense	SNP	0.996	A	A	30016734	G	A	30016734	3	1	24	1	0	0	0	0	1	0	0	0	7770	1058	37	1	732	1	INO80E	16	30016734	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	4783870	30016734	60338019	249	3670										
SLC38A7	55238	genome.wustl.edu	37	chr16	58712778	58712778	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gccaggatgacaaggccactGatgatgaaaaccagcatacc	10	11	0	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:58712778G>A	ENST00000570101.1	-	3	1174	c.291C>T	c.(289-291)atC>atT	p.I97I	SLC38A7_ENST00000564010.1_Silent_p.I8I|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.I97I|SLC38A7_ENST00000564100.1_Silent_p.I97I			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	97					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAAGGCCACTGATGATGAAAA	0.577																																																	0													127	82	97					16																	58712778		2198	4300	6498	SO:0001819	synonymous_variant	55238			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.291C>T	16.37:g.58712778G>A			Q53GJ9|Q9H9I5	Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.I97	ENST00000570101.1	37	c.291	CCDS10800.1	16																																																																																			SLC38A7	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease		0.577	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	G	NM_018231		58712778	-1	no_errors	ENST00000219320	ensembl	human	known	70_37	silent	SNP	1.000	A	A	58712778	G	A	58712778	2	1	24	1	0	0	0	0	0	0	0	1	14639	1280	45	1		1	SLC38A7	16	58712778	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	28696044	58712778	31641975	250	3671										
PLEKHG4	25894	genome.wustl.edu	37	chr16	67318975	67318975	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttcgatcggaatctggggcaGagtctcagtgaacctgcctg	13	10	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:67318975G>C	ENST00000360461.5	+	12	4587	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q684H|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q684H|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q603H	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	684							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ATCTGGGGCAGAGTCTCAGTG	0.657																																																	0													27	28	28					16																	67318975		2194	4296	6490	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2052G>C	16.37:g.67318975G>C	ENSP00000353646:p.Gln684His		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q684H	ENST00000360461.5	37	c.2052	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071227	0.20147	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	4.48	1.08	0.20341	.	1.226970	0.06542	N	0.743374	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	1	P;P	0.44946	0.846;0.553	P;B	0.44946	0.465;0.204	T	0.38112	-0.9676	10	0.48119	T	0.1	.	7.7291	0.28777	0.0919:0.3071:0.6009:0.0	.	603;684	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	H	684;684;684;603	ENSP00000353646:Q684H;ENSP00000401118:Q684H;ENSP00000368649:Q684H;ENSP00000398030:Q603H	ENSP00000353646:Q684H	Q	+	3	2	PLEKHG4	65876476	0.963000	0.33076	0.084000	0.20598	0.676000	0.39594	4.003000	0.57061	0.428000	0.26173	-0.175000	0.13238	CAG	PLEKHG4	-	NULL		0.657	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	G	NM_015432		67318975	1	no_errors	ENST00000360461	ensembl	human	known	70_37	missense	SNP	0.185	C	C	67318975	G	C	67318975	3	2	24	1	0	0	0	0	1	0	0	0	12095	933	33	1	2098	1	PLEKHG4	16	67318975	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	8606197	67318975	23035778	251	3672										
CDH3	1001	genome.wustl.edu	37	chr16	68725654	68725654	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtcttgtccctgaagaagttCctgaagcaggatacatatga	10	8	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:68725654C>T	ENST00000264012.4	+	13	2371	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	CDH3_ENST00000581171.1_Silent_p.F554F|CDH3_ENST00000429102.2_Silent_p.F609F	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	609	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGAAGAAGTTCCTGAAGCAGG	0.517																																																	2	Unknown(2)	breast(2)											137	117	124					16																	68725654		2198	4300	6498	SO:0001819	synonymous_variant	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1827C>T	16.37:g.68725654C>T			B2R6F4|Q05DI6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F609	ENST00000264012.4	37	c.1827	CCDS10868.1	16																																																																																			CDH3	-	superfamily_Cadherin-like,pfscan_Cadherin		0.517	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	C	NM_001793		68725654	1	no_errors	ENST00000264012	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68725654	C	T	68725654	2	4	24	1	0	0	0	0	0	0	0	1	3116	854	30	1		1	CDH3	16	68725654	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1406679	68725654	21629099	252	3673										
ADAT1	23536	genome.wustl.edu	37	chr16	75642774	75642774	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aacaagtcgacctgggctatCagccctttttgcctgcaccg	9	14	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:75642774C>G	ENST00000307921.3	-	8	1301	c.1156G>C	c.(1156-1158)Gat>Cat	p.D386H	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	386	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CCTGGGCTATCAGCCCTTTTT	0.512																																																	0													80	72	75					16																	75642774		2198	4300	6498	SO:0001583	missense	23536			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1156G>C	16.37:g.75642774C>G	ENSP00000310015:p.Asp386His		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.D386H	ENST00000307921.3	37	c.1156	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467950	0.12402	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94046	-3.34	6.04	3.77	0.43336	Adenosine deaminase/editase (3);	0.972870	0.08559	N	0.927792	D	0.91620	0.7352	L	0.61218	1.895	0.09310	N	1	B	0.24768	0.111	B	0.23275	0.045	D	0.83404	0.0024	10	0.42905	T	0.14	-0.028	10.5969	0.45343	0.0:0.7876:0.0:0.2124	.	386	Q9BUB4	ADAT1_HUMAN	H	386;357	ENSP00000310015:D386H	ENSP00000310015:D386H	D	-	1	0	ADAT1	74200275	0.213000	0.23551	0.045000	0.18777	0.282000	0.26991	1.287000	0.33284	1.557000	0.49525	0.563000	0.77884	GAT	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.512	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1	C	NM_012091		75642774	-1	no_errors	ENST00000307921	ensembl	human	known	70_37	missense	SNP	0.008	G	G	75642774	C	G	75642774	3	3	24	1	0	0	0	0	1	0	0	0	284	826	29	1	368	1	ADAT1	16	75642774	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	6917120	75642774	14711979	253	3674										
IL17C	27189	genome.wustl.edu	37	chr16	88706364	88706364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agagcctgctggtgctgcgcCgccggccctgctcccgcgac	14	18	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr16:88706364C>A	ENST00000244241.4	+	3	527	c.478C>A	c.(478-480)Cgc>Agc	p.R160S		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	160					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GGTGCTGCGCCGCCGGCCCTG	0.706																																																	0													24	30	28					16																	88706364		2031	4160	6191	SO:0001583	missense	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.478C>A	16.37:g.88706364C>A	ENSP00000244241:p.Arg160Ser		Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.R160S	ENST00000244241.4	37	c.478	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962938	0.74016	.	.	ENSG00000124391	ENST00000244241	T	0.68331	-0.32	4.45	4.45	0.53987	.	0.118143	0.36167	N	0.002758	D	0.84347	0.5452	M	0.89715	3.055	0.32784	N	0.502037	D	0.89917	1.0	D	0.91635	0.999	D	0.90191	0.4250	10	0.87932	D	0	-33.1367	14.8684	0.70434	0.0:1.0:0.0:0.0	.	160	Q9P0M4	IL17C_HUMAN	S	160	ENSP00000244241:R160S	ENSP00000244241:R160S	R	+	1	0	IL17C	87233865	0.988000	0.35896	0.997000	0.53966	0.622000	0.37654	3.017000	0.49615	2.032000	0.59987	0.561000	0.74099	CGC	IL17C	-	pfam_Interleukin-17		0.706	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	C	NM_013278		88706364	1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	0.991	A	A	88706364	C	A	88706364	3	1	24	1	0	0	0	0	1	0	0	0	7656	652	23	2	488	2	IL17C	16	88706364	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	13063590	88706364	1648389	254	3675										
ZZEF1	23140	genome.wustl.edu	37	chr17	3989912	3989912	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcagctctggagtagctgcaGaagcagggtttgggcagaga	17	7	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:3989912G>A	ENST00000381638.2	-	15	2504	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	794							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTAGCTGCAGAAGCAGGGTT	0.507																																																	0													81	80	80					17																	3989912		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2380C>T	17.37:g.3989912G>A			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.L794	ENST00000381638.2	37	c.2380	CCDS11043.1	17																																																																																			ZZEF1	-	NULL		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3989912	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	silent	SNP	0.998	A	A	3989912	G	A	3989912	2	1	24	1	0	0	0	0	0	0	0	1	18285	933	33	1		1	ZZEF1	17	3989912	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		3989912	77205298	255	3676										
PELP1	27043	genome.wustl.edu	37	chr17	4576054	4576054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggtatagtaggtgggggagtCccactaggggcaaggatggg	20	5	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:4576054C>T	ENST00000574876.1	-	16	2249	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	PELP1_ENST00000572293.1_Silent_p.G794G|PELP1_ENST00000301396.4_Silent_p.G888G|PELP1_ENST00000436683.2_Silent_p.G597G|PELP1_ENST00000269230.7_Silent_p.G654G|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	744	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GTGGGGGAGTCCCACTAGGGG	0.582																																																	0													18	21	20					17																	4576054		1901	4109	6010	SO:0001819	synonymous_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2232G>A	17.37:g.4576054C>T			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.G888	ENST00000574876.1	37	c.2664	CCDS58503.1	17																																																																																			PELP1	-	NULL		0.582	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	C	NM_014389		4576054	-1	no_errors	ENST00000301396	ensembl	human	known	70_37	silent	SNP	0.993	T	T	4576054	C	T	4576054	2	4	24	1	0	0	0	0	0	0	0	1	11749	842	30	1		1	PELP1	17	4576054	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	586142	4576054	76619156	256	3677										
DNAH2	146754	genome.wustl.edu	37	chr17	7701881	7701881	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccctcccccggccagatatcAagcgtctgtatcgccaggct	9	17	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:7701881A>T	ENST00000572933.1	+	55	9864	c.8404A>T	c.(8404-8406)Aag>Tag	p.K2802*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.K2802*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2802	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCAGATATCAAGCGTCTGTA	0.537																																																	0													73	70	71					17																	7701881		2203	4300	6503	SO:0001587	stop_gained	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8404A>T	17.37:g.7701881A>T	ENSP00000458355:p.Lys2802*		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K2802*	ENST00000572933.1	37	c.8404	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	A	50	16.909671	0.99875	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3298	0.74200	1.0:0.0:0.0:0.0	.	.	.	.	X	2802	.	ENSP00000353818:K2802X	K	+	1	0	DNAH2	7642606	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.336000	0.90033	2.266000	0.75297	0.454000	0.30748	AAG	DNAH2	-	NULL		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	A	NM_020877		7701881	1	no_errors	ENST00000389173	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7701881	A	T	7701881	4	4	24	1	0	0	0	0	0	1	0	0	4612	131	5	5	8618	5	DNAH2	17	7701881	Nonsense_Mutation	SNP	A	TCGA-C5-A1MK-01A-11D-A14W-08	3125827	7701881	73493329	257	3678										
MYH8	4626	genome.wustl.edu	37	chr17	10322273	10322273	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggctcgtgtagatgagtcatCatggccatgtcctcaatttt	10	9	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10322273C>T	ENST00000403437.2	-	4	379	c.285G>A	c.(283-285)atG>atA	p.M95I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	95	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATGAGTCATCATGGCCATGT	0.453									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													207	183	191					17																	10322273		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.285G>A	17.37:g.10322273C>T	ENSP00000384330:p.Met95Ile		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M95I	ENST00000403437.2	37	c.285	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334146	0.60853	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87412	-2.25	3.44	3.44	0.39384	Myosin head, motor domain (2);	0.000000	0.50627	U	0.000110	D	0.90758	0.7099	H	0.94808	3.585	0.58432	D	0.999994	B	0.11235	0.004	B	0.21360	0.034	D	0.91352	0.5105	10	0.72032	D	0.01	.	15.3987	0.74818	0.0:1.0:0.0:0.0	.	95	P13535	MYH8_HUMAN	I	95	ENSP00000384330:M95I	ENSP00000252173:M95I	M	-	3	0	MYH8	10262998	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.743000	0.68655	1.929000	0.55896	0.460000	0.39030	ATG	MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.453	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10322273	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10322273	C	T	10322273	3	4	24	1	0	0	0	0	1	0	0	0	10064	826	29	1	5676	1	MYH8	17	10322273	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2620392	10322273	70872937	258	3679										
MYH4	4622	genome.wustl.edu	37	chr17	10360825	10360825	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cccaccacagtctcattcagGgggtccttgtttttgtccag	9	13	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10360825G>C	ENST00000255381.2	-	16	1919	c.1809C>G	c.(1807-1809)ccC>ccG	p.P603P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	603	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCATTCAGGGGGTCCTTGT	0.542																																																	0													90	89	89					17																	10360825		2203	4300	6503	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1809C>G	17.37:g.10360825G>C				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P603	ENST00000255381.2	37	c.1809	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10360825	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	silent	SNP	0.997	C	C	10360825	G	C	10360825	2	2	24	1	0	0	0	0	0	0	0	1	10060	1219	43	4		4	MYH4	17	10360825	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	38552	10360825	70834385	259	3680										
MYH1	4619	genome.wustl.edu	37	chr17	10411242	10411242	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtctggaaagaagaacccttCttcttaccacctttctttcc	5	13	4	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10411242C>G	ENST00000226207.5	-	17	2023	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	643	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K643N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGAACCCTTCTTCTTACCAC	0.383																																																	1	Substitution - Missense(1)	lung(1)											67	75	72					17																	10411242		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1929G>C	17.37:g.10411242C>G	ENSP00000226207:p.Lys643Asn		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K643N	ENST00000226207.5	37	c.1929	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291986	0.80914	.	.	ENSG00000109061	ENST00000226207	D	0.87729	-2.29	5.56	4.59	0.56863	Myosin head, motor domain (2);	0.000000	0.45361	U	0.000378	D	0.93667	0.7977	M	0.88704	2.975	0.53688	D	0.999973	P	0.49253	0.921	P	0.61397	0.888	D	0.94772	0.7946	10	0.87932	D	0	.	14.9332	0.70933	0.0:0.9309:0.0:0.0691	.	643	P12882	MYH1_HUMAN	N	643	ENSP00000226207:K643N	ENSP00000226207:K643N	K	-	3	2	MYH1	10351967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.027000	0.49697	1.494000	0.48533	0.650000	0.86243	AAG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10411242	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10411242	C	G	10411242	3	3	24	1	0	0	0	0	1	0	0	0	10052	912	32	1	3986	1	MYH1	17	10411242	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	50417	10411242	70783968	260	3681										
MYH2	4620	genome.wustl.edu	37	chr17	10448678	10448678	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctcaccagtcagcatgaactGataggcgttgtcagagatgg	12	9	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:10448678G>T	ENST00000245503.5	-	5	874	c.490C>A	c.(490-492)Cag>Aag	p.Q164K	MYH2_ENST00000532183.2_Missense_Mutation_p.Q164K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q164K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	164	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q164*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCATGAACTGATAGGCGTTG	0.532																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											201	203	202					17																	10448678		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.490C>A	17.37:g.10448678G>T	ENSP00000245503:p.Gln164Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q164K	ENST00000245503.5	37	c.490	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231394	0.58777	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.37483	U	0.002063	D	0.92453	0.7604	L	0.58428	1.81	0.80722	D	1	P;P	0.52842	0.956;0.578	D;P	0.72075	0.976;0.532	D	0.92262	0.5818	10	0.59425	D	0.04	.	18.8439	0.92196	0.0:0.0:1.0:0.0	.	164;164	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	164	ENSP00000433944:Q164K;ENSP00000245503:Q164K;ENSP00000380367:Q164K;ENSP00000399348:Q164K	ENSP00000245503:Q164K	Q	-	1	0	MYH2	10389403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.706000	0.92434	0.650000	0.86243	CAG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10448678	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10448678	G	T	10448678	3	4	24	1	0	0	0	0	1	0	0	0	10058	1299	45	3	5479	3	MYH2	17	10448678	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	37436	10448678	70746532	261	3682										
DNAH9	1770	genome.wustl.edu	37	chr17	11573101	11573101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aacagcatcttgtggaccacGtcactcacaggtacaacagt	8	12	3	0	rs143003954	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:11573101G>A	ENST00000262442.4	+	17	3411	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V1115I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1115	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTGGACCACGTCACTCACAG	0.418																																																	0								G	ILE/VAL	0,4390		0,0,2195	130	129	129		3343	4.9	1	17	dbSNP_134	129	2,8592		0,2,4295	yes	missense	DNAH9	NM_001372.3	29	0,2,6490	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1115/4487	11573101	2,12982	2195	4297	6492	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3343G>A	17.37:g.11573101G>A	ENSP00000262442:p.Val1115Ile		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V1115I	ENST00000262442.4	37	c.3343	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630546	0.87660	0.0	2.33E-4	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27720	1.69;1.65	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.56834	0.2012	M	0.84846	2.72	0.80722	D	1	D	0.67145	0.996	P	0.57720	0.826	T	0.66135	-0.5999	10	0.72032	D	0.01	.	18.4238	0.90602	0.0:0.0:1.0:0.0	.	1115	Q9NYC9	DYH9_HUMAN	I	1115	ENSP00000262442:V1115I;ENSP00000414874:V1115I	ENSP00000262442:V1115I	V	+	1	0	DNAH9	11513826	1.000000	0.71417	0.971000	0.41717	0.709000	0.40893	9.765000	0.98953	2.407000	0.81776	0.591000	0.81541	GTC	DNAH9	-	NULL		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11573101	1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11573101	G	A	11573101	3	1	24	1	0	0	0	0	1	0	0	0	4618	1145	40	2	3409	2	DNAH9	17	11573101	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1124423	11573101	69622109	262	3683										
FAM18B2	201158	genome.wustl.edu	37	chr17	15406542	15406543	+	Frame_Shift_Ins	INS	-	-	CT													0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctgggcaatgtggcgagaccINSgtctctacaaaaaataaaat					rs533900031|rs113252895	byFrequency	TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:15406542_15406543insCT	ENST00000225576.3	-	6	561_562	c.466_467insAG	c.(466-468)cggfs	p.R156fs	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Frame_Shift_Ins_p.R113fs	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	156						integral component of membrane (GO:0016021)											gtggcgagaccgtctctacaaa	0.54														127	0.0253594	0.0885	0.0144	5008	,	,		16170	0		0	False		,,,				2504	0																0									,	281,3681		29,223,1729					,	0.4	0		dbSNP_132	6	16,7788		1,14,3887	no	frameshift,intron	FAM18B2,FAM18B2-CDRT4	NM_145301.2,NM_001204478.1	,	30,237,5616	A1A1,A1R,RR		0.205,7.0924,2.5242	,	,		297,11469				SO:0001589	frameshift_variant	201158			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.466_467insAG	17.37:g.15406542_15406543insCT	ENSP00000225576:p.Arg156fs		Q3LIC7	Frame_Shift_Ins	INS	pfam_DUF846_euk	p.R156fs	ENST00000225576.3	37	c.467_466	CCDS11170.1	17																																																																																			FAM18B2	-	NULL		0.54	TVP23C-001	KNOWN	basic|CCDS	protein_coding	FAM18B2	HGNC	protein_coding	OTTHUMT00000130705.2	-	NM_145301		15406543	-1	no_errors	ENST00000225576	ensembl	human	known	70_37	frame_shift_ins	INS	0.001:0.000	CT	CT	15406543	-	CT	15406542	7	5	24	1	0	1	1	0	0	0	0	0	5535	652	23	0	367	0	FAM18B2	17	15406542	Frame_Shift_Ins	INS	-	TCGA-C5-A1MK-01A-11D-A14W-08	3833441	15406542	65788668	263	3684										
MAPK7	5598	genome.wustl.edu	37	chr17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttggtgagatgctggcccggCgccagctcttcccaggcaaa	13	13	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:19284297C>T	ENST00000308406.5	+	4	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.R259C|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.R259C|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.R120C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	259	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567																																																	0													36	37	37					17																	19284297		2203	4300	6503	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.775C>T	17.37:g.19284297C>T	ENSP00000311005:p.Arg259Cys		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	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.R259C	ENST00000308406.5	37	c.775	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611533	0.66558	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111501	0.64402	D	0.000019	T	0.79058	0.4382	M	0.79614	2.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.81491	-0.0909	10	0.87932	D	0	-15.6432	10.8063	0.46520	0.189:0.8109:0.0:0.0	.	259	Q13164	MK07_HUMAN	C	259;120;259;259	ENSP00000311005:R259C;ENSP00000299612:R120C;ENSP00000378968:R259C;ENSP00000378966:R259C	ENSP00000299612:R120C	R	+	1	0	MAPK7	19224890	0.977000	0.34250	1.000000	0.80357	0.964000	0.63967	2.479000	0.45197	2.335000	0.79485	0.561000	0.74099	CGC	MAPK7	-	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		0.567	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19284297	1	no_errors	ENST00000308406	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19284297	C	T	19284297	3	4	24	1	0	0	0	0	1	0	0	0	9305	768	27	2	785	2	MAPK7	17	19284297	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3877755	19284297	61910913	264	3685										
SUZ12	23512	genome.wustl.edu	37	chr17	30302566	30302566	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtgcctttgaatcctgacctCaatcaaacaaaacccggaaa	6	12	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:30302566C>G	ENST00000322652.5	+	7	886	c.657C>G	c.(655-657)ctC>ctG	p.L219L	SUZ12_ENST00000580398.1_Silent_p.L196L	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	219					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				ATCCTGACCTCAATCAAACAA	0.373			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													48	51	50					17																	30302566		2203	4300	6503	SO:0001819	synonymous_variant	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.657C>G	17.37:g.30302566C>G			Q96BD9	Silent	SNP	pfam_Polycomb_protein_VEFS-Box	p.L219	ENST00000322652.5	37	c.657	CCDS11270.1	17																																																																																			SUZ12	-	NULL		0.373	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	C	NM_015355		30302566	1	no_errors	ENST00000322652	ensembl	human	known	70_37	silent	SNP	1.000	G	G	30302566	C	G	30302566	2	3	24	1	0	0	0	0	0	0	0	1	15446	813	29	1		1	SUZ12	17	30302566	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	11018269	30302566	50892644	265	3686										
SLFN11	91607	genome.wustl.edu	37	chr17	33690789	33690789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgatgaccaggtctgggtaaGatggttccacaaccaggggg	15	8	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:33690789G>C	ENST00000394566.1	-	4	310	c.38C>G	c.(37-39)tCt>tGt	p.S13C	SLFN11_ENST00000308377.4_Missense_Mutation_p.S13C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	13					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTGGGTAAGATGGTTCCAC	0.413																																																	0													64	69	67					17																	33690789		2201	4300	6501	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.38C>G	17.37:g.33690789G>C	ENSP00000378067:p.Ser13Cys		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S13C	ENST00000394566.1	37	c.38	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149968	0.37923	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.25250	4.43;4.43;1.81;2.15;1.81	4.0	3.03	0.35002	.	0.227157	0.22695	N	0.056772	T	0.41743	0.1172	M	0.71581	2.175	0.09310	N	1	D	0.76494	0.999	P	0.62014	0.897	T	0.14952	-1.0454	10	0.56958	D	0.05	.	7.3603	0.26742	0.1201:0.0:0.8799:0.0	.	13	Q7Z7L1	SLN11_HUMAN	C	13	ENSP00000312402:S13C;ENSP00000378067:S13C;ENSP00000397454:S13C;ENSP00000393615:S13C;ENSP00000395140:S13C	ENSP00000312402:S13C	S	-	2	0	SLFN11	30714902	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.458000	0.06737	0.901000	0.36495	0.655000	0.94253	TCT	SLFN11	-	NULL		0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	G	NM_152270		33690789	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33690789	G	C	33690789	3	2	24	1	0	0	0	0	1	0	0	0	14763	942	33	1	2683	1	SLFN11	17	33690789	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3388223	33690789	47504421	266	3687										
ZPBP2	124626	genome.wustl.edu	37	chr17	38024615	38024615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagcccctgagcgatgatgcGaacgtgcgtcctactctccg	11	15	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:38024615G>A	ENST00000348931.4	+	1	199	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	ZPBP2_ENST00000584588.1_Missense_Mutation_p.R3Q|ZPBP2_ENST00000377940.3_Missense_Mutation_p.R3Q	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	3					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGATGATGCGAACGTGCGTC	0.692																																																	0													83	76	78					17																	38024615		2203	4300	6503	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.8G>A	17.37:g.38024615G>A	ENSP00000335384:p.Arg3Gln		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.R3Q	ENST00000348931.4	37	c.8	CCDS11352.1	17	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804539	0.16467	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.54071	0.61;0.59	4.03	3.02	0.34903	.	0.550372	0.15201	N	0.275039	T	0.54919	0.1888	L	0.50333	1.59	0.22317	N	0.999208	D;D	0.69078	0.997;0.987	P;P	0.54174	0.744;0.478	T	0.40664	-0.9551	10	0.38643	T	0.18	-0.9825	8.823	0.35039	0.0:0.0:0.7655:0.2345	.	3;3	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	Q	3	ENSP00000335384:R3Q;ENSP00000367174:R3Q	ENSP00000335384:R3Q	R	+	2	0	ZPBP2	35278141	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	0.465000	0.22004	1.216000	0.43427	0.580000	0.79431	CGA	ZPBP2	-	NULL		0.692	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP2	HGNC	protein_coding	OTTHUMT00000256609.2	G	NM_198844		38024615	1	no_errors	ENST00000348931	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38024615	G	A	38024615	3	1	24	1	0	0	0	0	1	0	0	0	18250	1058	37	1	10	1	ZPBP2	17	38024615	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	4333826	38024615	43170595	267	3688										
KRT15	3866	genome.wustl.edu	37	chr17	39672427	39672427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctcgtactgctccctcatctCtgccagcacacgggtcaggt	9	16	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:39672427C>G	ENST00000254043.3	-	4	4414	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	KRT15_ENST00000393974.3_Missense_Mutation_p.E112Q|KRT15_ENST00000393976.2_Missense_Mutation_p.E277Q|KRT15_ENST00000393981.3_Missense_Mutation_p.E112Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	277	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCCCTCATCTCTGCCAGCACA	0.622																																																	0													175	174	175					17																	39672427		2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.829G>C	17.37:g.39672427C>G	ENSP00000254043:p.Glu277Gln		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E277Q	ENST00000254043.3	37	c.829	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268684	0.80469	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	4.72	4.72	0.59763	Filament (1);	0.128726	0.34828	N	0.003651	D	0.95959	0.8684	M	0.81682	2.555	0.39525	D	0.968573	D;D;D	0.71674	0.99;0.998;0.994	P;D;D	0.72625	0.901;0.978;0.965	D	0.96810	0.9596	10	0.72032	D	0.01	.	17.2015	0.86907	0.0:1.0:0.0:0.0	.	112;277;277	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	Q	277;112;277;112;112	ENSP00000254043:E277Q;ENSP00000377544:E112Q;ENSP00000377546:E277Q;ENSP00000377550:E112Q;ENSP00000409282:E112Q	ENSP00000254043:E277Q	E	-	1	0	KRT15	36925953	0.819000	0.29175	0.950000	0.38849	0.927000	0.56198	3.624000	0.54231	2.589000	0.87451	0.655000	0.94253	GAG	KRT15	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.622	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	C	NM_002275		39672427	-1	no_errors	ENST00000254043	ensembl	human	known	70_37	missense	SNP	0.989	G	G	39672427	C	G	39672427	3	3	24	1	0	0	0	0	1	0	0	0	8472	922	32	1	561	1	KRT15	17	39672427	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1647812	39672427	41522783	268	3689										
HAP1	9001	genome.wustl.edu	37	chr17	39881183	39881183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgcctcatccagctccagttCcacctcctcccagccctcgg	6	21	1	0	rs555784831		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:39881183C>T	ENST00000310778.5	-	12	1795	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	HAP1_ENST00000341193.5_Missense_Mutation_p.E527K|HAP1_ENST00000347901.4_Missense_Mutation_p.E544K|HAP1_ENST00000393939.2_Missense_Mutation_p.E519K|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	596	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCTCCAGTTCCACCTCCTCC	0.622																																																	0													298	262	274					17																	39881183		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1786G>A	17.37:g.39881183C>T	ENSP00000309392:p.Glu596Lys		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E596K	ENST00000310778.5	37	c.1786		17	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292746	0.40594	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.43688	0.94;2.54;2.94;2.63;2.57	3.97	3.0	0.34707	.	0.168366	0.28476	N	0.015206	T	0.31389	0.0795	L	0.29908	0.895	0.21675	N	0.999593	P;P;P;B	0.34639	0.461;0.461;0.461;0.331	B;B;B;B	0.36464	0.225;0.225;0.225;0.113	T	0.25984	-1.0116	10	0.87932	D	0	-7.7275	9.6563	0.39928	0.0:0.8955:0.0:0.1045	.	519;527;544;596	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	51;519;596;544;527	ENSP00000404640:E51K;ENSP00000377513:E519K;ENSP00000309392:E596K;ENSP00000334002:E544K;ENSP00000343170:E527K	ENSP00000309392:E596K	E	-	1	0	HAP1	37134709	0.050000	0.20438	0.640000	0.29408	0.032000	0.12392	1.677000	0.37576	1.021000	0.39600	-0.350000	0.07774	GAA	HAP1	-	NULL		0.622	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39881183	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	0.699	T	T	39881183	C	T	39881183	3	4	24	1	0	0	0	0	1	0	0	0	6973	864	30	1	233	1	HAP1	17	39881183	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	208756	39881183	41314027	269	3690										
VPS25	84313	genome.wustl.edu	37	chr17	40927461	40927461	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcatgtggcggaggccagaaGaatgggggaaactcatctat	14	7	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:40927461G>A	ENST00000253794.2	+	4	356	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	106					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GAGGCCAGAAGAATGGGGGAA	0.458																																																	0													96	90	92					17																	40927461		2203	4300	6503	SO:0001583	missense	84313			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.316G>A	17.37:g.40927461G>A	ENSP00000253794:p.Glu106Lys		B2R581	Missense_Mutation	SNP	pfam_ESCRT-II_cplx_vps25-sub	p.E106K	ENST00000253794.2	37	c.316	CCDS11438.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.215822	0.95104	.	.	ENSG00000131475	ENST00000253794	T	0.50001	0.76	4.76	4.76	0.60689	ESCRT-II complex, Vps25 subunit, C-terminal winged helix (1);	0.049288	0.85682	N	0.000000	T	0.75917	0.3915	M	0.94101	3.495	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.83285	-0.0036	10	0.66056	D	0.02	-6.8713	17.9606	0.89084	0.0:0.0:1.0:0.0	.	106	Q9BRG1	VPS25_HUMAN	K	106	ENSP00000253794:E106K	ENSP00000253794:E106K	E	+	1	0	VPS25	38180987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.455000	0.97625	2.477000	0.83638	0.655000	0.94253	GAA	VPS25	-	pfam_ESCRT-II_cplx_vps25-sub		0.458	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS25	HGNC	protein_coding	OTTHUMT00000452383.1	G	NM_032353		40927461	1	no_errors	ENST00000253794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40927461	G	A	40927461	3	1	24	1	0	0	0	0	1	0	0	0	17227	943	33	1	330	1	VPS25	17	40927461	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1046278	40927461	40267749	270	3691										
WNK4	65266	genome.wustl.edu	37	chr17	40948022	40948022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agtggggaagatgaggagttCtgggctgagctgcagagtct	18	5	2	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:40948022C>G	ENST00000246914.5	+	16	3423	c.3402C>G	c.(3400-3402)ttC>ttG	p.F1134L	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1134					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGAGTTCTGGGCTGAGC	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													60	58	59					17																	40948022		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3402C>G	17.37:g.40948022C>G	ENSP00000246914:p.Phe1134Leu		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F1134L	ENST00000246914.5	37	c.3402	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474068	0.04414	.	.	ENSG00000126562	ENST00000246914	T	0.57595	0.39	5.18	4.17	0.49024	.	0.169277	0.29328	N	0.012474	T	0.22282	0.0537	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.25117	-1.0141	10	0.02654	T	1	-16.1428	5.4008	0.16295	0.1475:0.6335:0.1425:0.0766	.	1134;1134	Q96J92-3;Q96J92	.;WNK4_HUMAN	L	1134	ENSP00000246914:F1134L	ENSP00000246914:F1134L	F	+	3	2	WNK4	38201548	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.604000	0.24164	2.412000	0.81896	0.313000	0.20887	TTC	WNK4	-	NULL		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40948022	1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.997	G	G	40948022	C	G	40948022	3	3	24	1	0	0	0	0	1	0	0	0	17411	912	32	1	3464	1	WNK4	17	40948022	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	20561	40948022	40247188	271	3692										
WNK4	65266	genome.wustl.edu	37	chr17	40948044	40948044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggctgagctgcagagtcttCggcagaagtgagtctcggga	17	8	2	4	rs371972756		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:40948044C>T	ENST00000246914.5	+	16	3445	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1142					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAGAGTCTTCGGCAGAAGTG	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59	59	59		3424	5	1	17		59	0,8600		0,0,4300	no	missense	WNK4	NM_032387.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1142/1244	40948044	1,13005	2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3424C>T	17.37:g.40948044C>T	ENSP00000246914:p.Arg1142Trp		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R1142W	ENST00000246914.5	37	c.3424	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338250	0.41398	2.27E-4	0.0	ENSG00000126562	ENST00000246914	D	0.89485	-2.52	4.96	4.96	0.65561	.	0.000000	0.40222	N	0.001148	D	0.94248	0.8153	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.923	D	0.95014	0.8154	10	0.87932	D	0	-15.074	18.2004	0.89836	0.0:1.0:0.0:0.0	.	1142;1142	Q96J92-3;Q96J92	.;WNK4_HUMAN	W	1142	ENSP00000246914:R1142W	ENSP00000246914:R1142W	R	+	1	2	WNK4	38201570	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	2.894000	0.48640	2.294000	0.77228	0.313000	0.20887	CGG	WNK4	-	NULL		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40948044	1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40948044	C	T	40948044	3	4	24	1	0	0	0	0	1	0	0	0	17411	875	31	1	3486	1	WNK4	17	40948044	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	22	40948044	40247166	272	3693										
CBX1	10951	genome.wustl.edu	37	chr17	46153372	46153372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tctattcttacctcttctttCttcttctttggtttgctctc	3	12	8	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:46153372C>A	ENST00000393408.3	-	3	789	c.309G>T	c.(307-309)aaG>aaT	p.K103N	CBX1_ENST00000225603.4_Missense_Mutation_p.K103N|CBX1_ENST00000495350.1_Missense_Mutation_p.K103N	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	103					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						cctcttctttcttcttctttg	0.398																																					NSCLC(136;694 2497 38792 39034)												0													62	42	49					17																	46153372		2203	4300	6503	SO:0001583	missense	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.309G>T	17.37:g.46153372C>A	ENSP00000377060:p.Lys103Asn		P23197	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.K103N	ENST00000393408.3	37	c.309	CCDS11525.1	17	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215844	0.58452	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	4.88	0.63580	Chromo domain-like (1);	0.073774	0.51477	U	0.000081	T	0.26702	0.0653	N	0.08118	0	0.52099	D	0.999946	P	0.44877	0.845	B	0.36534	0.227	T	0.10109	-1.0644	9	0.37606	T	0.19	-28.3135	14.0661	0.64831	0.0:0.9263:0.0:0.0737	.	103	P83916	CBX1_HUMAN	N	103	.	ENSP00000225603:K103N	K	-	3	2	CBX1	43508371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.542000	0.36137	1.479000	0.48272	-0.150000	0.13652	AAG	CBX1	-	superfamily_Chromodomain-like		0.398	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	C	NM_006807		46153372	-1	no_errors	ENST00000225603	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46153372	C	A	46153372	3	1	24	1	0	0	0	0	1	0	0	0	2722	912	32	3	260	3	CBX1	17	46153372	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5205328	46153372	35041838	273	3694										
CBX1	10951	genome.wustl.edu	37	chr17	46153539	46153539	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tggctcccatgtgttgtcctCactgaaaccagagggcacag	11	12	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:46153539C>G	ENST00000393408.3	-	3	622	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	CBX1_ENST00000225603.4_Splice_Site_p.E48Q|CBX1_ENST00000495350.1_Splice_Site_p.E48Q	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	48	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GTGTTGTCCTCACTGAAACCA	0.443																																					NSCLC(136;694 2497 38792 39034)												0													83	76	78					17																	46153539		2203	4300	6503	SO:0001630	splice_region_variant	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.141-1G>C	17.37:g.46153539C>G			P23197	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E48Q	ENST00000393408.3	37	c.142	CCDS11525.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210101	0.79240	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.85	5.85	0.93711	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.067931	0.56097	U	0.000027	T	0.79143	0.4396	M	0.69523	2.12	0.80722	D	1	P	0.49447	0.924	P	0.47162	0.54	T	0.77643	-0.2511	10	0.34782	T	0.22	-26.4328	18.9246	0.92540	0.0:1.0:0.0:0.0	.	48	P83916	CBX1_HUMAN	Q	48	ENSP00000225603:E48Q;ENSP00000377060:E48Q;ENSP00000385413:E48Q;ENSP00000393179:E48Q	ENSP00000225603:E48Q	E	-	1	0	CBX1	43508538	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.792000	0.85828	2.767000	0.95098	0.655000	0.94253	GAG	CBX1	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr		0.443	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	C	NM_006807	Missense_Mutation	46153539	-1	no_errors	ENST00000225603	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46153539	C	G	46153539	5	3	24	1	0	0	0	0	0	0	1	0	2722	840	29	1	427	1	CBX1	17	46153539	Splice_Site	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	167	46153539	35041671	274	3695										
AKAP1	8165	genome.wustl.edu	37	chr17	55183327	55183327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagctgaggtgtgtaagcaaGattcccccttcagcagggtg	13	10	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:55183327G>C	ENST00000337714.3	+	2	735	c.502G>C	c.(502-504)Gat>Cat	p.D168H	AKAP1_ENST00000572557.1_Missense_Mutation_p.D168H|AKAP1_ENST00000539273.1_Missense_Mutation_p.D168H|AKAP1_ENST00000571629.1_Missense_Mutation_p.D168H|AKAP1_ENST00000314126.3_Missense_Mutation_p.D168H	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	168					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTGTAAGCAAGATTCCCCCTT	0.567																																																	0													77	79	79					17																	55183327		2203	4300	6503	SO:0001583	missense	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.502G>C	17.37:g.55183327G>C	ENSP00000337736:p.Asp168His		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.D168H	ENST00000337714.3	37	c.502	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654430	0.47467	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.13420	2.59;2.59;2.59	5.93	5.93	0.95920	.	0.332844	0.35970	N	0.002880	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	P	0.37955	0.612	B	0.34590	0.186	T	0.27331	-1.0077	10	0.87932	D	0	-12.9542	12.7688	0.57408	0.0769:0.0:0.9231:0.0	.	168	Q92667	AKAP1_HUMAN	H	168;168;210;168	ENSP00000337736:D168H;ENSP00000314075:D168H;ENSP00000443139:D168H	ENSP00000314075:D168H	D	+	1	0	AKAP1	52538326	0.973000	0.33851	0.341000	0.25589	0.171000	0.22731	3.206000	0.51098	2.826000	0.97356	0.655000	0.94253	GAT	AKAP1	-	NULL		0.567	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	G			55183327	1	no_errors	ENST00000337714	ensembl	human	known	70_37	missense	SNP	0.126	C	C	55183327	G	C	55183327	3	2	24	1	0	0	0	0	1	0	0	0	445	942	33	1	504	1	AKAP1	17	55183327	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	9029788	55183327	26011883	275	3696										
TRIM37	4591	genome.wustl.edu	37	chr17	57139987	57139987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aagaggtggactgtaaacagGatctgctctctgacgcaaag	12	8	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:57139987G>T	ENST00000262294.7	-	11	1142	c.883C>A	c.(883-885)Cct>Act	p.P295T	TRIM37_ENST00000376149.3_Missense_Mutation_p.P173T|TRIM37_ENST00000393066.3_Missense_Mutation_p.P295T|TRIM37_ENST00000393065.2_Missense_Mutation_p.P261T	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	295	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTGTAAACAGGATCTGCTCTC	0.383									Mulibrey Nanism																																								0													71	67	69					17																	57139987		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.883C>A	17.37:g.57139987G>T	ENSP00000262294:p.Pro295Thr		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.P295T	ENST00000262294.7	37	c.883	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853501	0.51270	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.47	5.47	0.80525	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.81802	2.56	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.408	D;D;B	0.91635	0.987;0.999;0.387	T	0.82277	-0.0537	10	0.54805	T	0.06	-3.3286	19.3189	0.94229	0.0:0.0:1.0:0.0	.	261;173;295	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	T	295;295;173;261	ENSP00000376785:P295T;ENSP00000262294:P295T;ENSP00000365319:P173T;ENSP00000376784:P261T	ENSP00000262294:P295T	P	-	1	0	TRIM37	54494769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.670000	0.98625	2.574000	0.86865	0.650000	0.86243	CCT	TRIM37	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.383	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	G	NM_015294		57139987	-1	no_errors	ENST00000262294	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57139987	G	T	57139987	3	4	24	1	0	0	0	0	1	0	0	0	16542	1174	41	3	2075	3	TRIM37	17	57139987	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1956660	57139987	24055223	276	3697										
ABCA8	10351	genome.wustl.edu	37	chr17	66890334	66890334	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctccaaaaatgtacttctttCagttcggatatgtactgatg	7	8	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:66890334C>G	ENST00000269080.2	-	21	3033	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.E1006Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.E1006Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	966					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTACTTCTTTCAGTTCGGATA	0.373																																																	0													62	60	61					17																	66890334		2203	4299	6502	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2896G>C	17.37:g.66890334C>G	ENSP00000269080:p.Glu966Gln		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1006Q	ENST00000269080.2	37	c.3016	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537371	0.27475	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87103	-2.21;-2.21	5.08	5.08	0.68730	.	0.632242	0.14939	N	0.289655	D	0.83482	0.5264	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.28208	0.203;0.152;0.129;0.064;0.152	B;B;B;B;B	0.35899	0.094;0.213;0.064;0.094;0.152	T	0.68292	-0.5447	10	0.10636	T	0.68	.	14.1648	0.65469	0.0:1.0:0.0:0.0	.	945;1006;1006;1006;966	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	Q	966;1006;945	ENSP00000269080:E966Q;ENSP00000402814:E1006Q	ENSP00000269080:E966Q	E	-	1	0	ABCA8	64401929	0.005000	0.15991	0.140000	0.22221	0.021000	0.10359	1.797000	0.38804	2.801000	0.96364	0.655000	0.94253	GAA	ABCA8	-	NULL		0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	C	NM_007168		66890334	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	missense	SNP	0.370	G	G	66890334	C	G	66890334	3	3	24	1	0	0	0	0	1	0	0	0	38	835	29	1	1921	1	ABCA8	17	66890334	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	9750347	66890334	14304876	277	3698										
SLC38A10	124565	genome.wustl.edu	37	chr17	79234147	79234147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcctcgctcacagacagtgtGgtgacagtgctcaccaccag	10	14	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr17:79234147G>A	ENST00000374759.3	-	11	1562	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	SLC38A10_ENST00000546352.1_5'Flank|SLC38A10_ENST00000288439.5_Silent_p.T393T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	393					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGACAGTGTGGTGACAGTGC	0.682																																																	0													29	33	32					17																	79234147		2197	4299	6496	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1179C>T	17.37:g.79234147G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.T393	ENST00000374759.3	37	c.1179	CCDS42397.1	17																																																																																			SLC38A10	-	NULL		0.682	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	G	NM_138570		79234147	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	silent	SNP	0.913	A	A	79234147	G	A	79234147	2	1	24	1	0	0	0	0	0	0	0	1	14632	1335	47	4		4	SLC38A10	17	79234147	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	12343813	79234147	1961063	278	3699										
CLUL1	27098	genome.wustl.edu	37	chr18	619248	619248	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gggagatagatgcagatgaaGaggtgaagaaggctttgact	16	3	0	8			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr18:619248G>A	ENST00000400606.2	+	3	287	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CLUL1_ENST00000581619.1_Missense_Mutation_p.E73K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E48K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E100K|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E48K	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	48					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGCAGATGAAGAGGTGAAGAA	0.388																																																	0													146	136	139					18																	619248		1884	4125	6009	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.142G>A	18.37:g.619248G>A	ENSP00000383449:p.Glu48Lys		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.E48K	ENST00000400606.2	37	c.142	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572610	0.65765	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.29655	1.56;1.56;1.56	5.26	5.26	0.73747	Clusterin, N-terminal (1);	0.105213	0.64402	D	0.000005	T	0.54498	0.1862	M	0.70275	2.135	0.49389	D	0.999783	D;D	0.69078	0.997;0.993	D;P	0.63283	0.913;0.883	T	0.56727	-0.7931	10	0.56958	D	0.05	-9.3655	18.8592	0.92265	0.0:0.0:1.0:0.0	.	100;48	F5GWQ8;Q15846	.;CLUL1_HUMAN	K	48;100;48	ENSP00000383449:E48K;ENSP00000441726:E100K;ENSP00000341128:E48K	ENSP00000341128:E48K	E	+	1	0	CLUL1	609248	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	5.640000	0.67875	2.458000	0.83093	0.650000	0.86243	GAG	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_N		0.388	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	G			619248	1	no_errors	ENST00000338387	ensembl	human	known	70_37	missense	SNP	1.000	A	A	619248	G	A	619248	3	1	24	1	0	0	0	0	1	0	0	0	3575	943	33	1	148	1	CLUL1	18	619248	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		619248	77458000	279	3700										
ROCK1	6093	genome.wustl.edu	37	chr18	18586468	18586468	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tctgttcagggactctaactGactaattgacttgctcatct	7	10	5	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr18:18586468G>A	ENST00000399799.2	-	16	2669	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	577	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GACTCTAACTGACTAATTGAC	0.378																																																	0													160	142	148					18																	18586468		2203	4300	6503	SO:0001587	stop_gained	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1729C>T	18.37:g.18586468G>A	ENSP00000382697:p.Gln577*		B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q577*	ENST00000399799.2	37	c.1729	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	G	47	13.577130	0.99750	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	.	.	.	X	577	.	ENSP00000382697:Q577X	Q	-	1	0	ROCK1	16840466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.263000	0.95617	2.832000	0.97577	0.655000	0.94253	CAG	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	G	NM_005406		18586468	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18586468	G	A	18586468	4	1	24	1	0	0	0	0	0	1	0	0	13547	1299	45	1	2407	1	ROCK1	18	18586468	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	17967220	18586468	59490780	280	3701										
BSG	682	genome.wustl.edu	37	chr19	581370	581370	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gagttcctcgcagggccggtCagagctacacattgagaacc	12	12	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:581370C>G	ENST00000333511.3	+	6	918	c.848C>G	c.(847-849)tCa>tGa	p.S283*	BSG_ENST00000545507.2_Nonsense_Mutation_p.S74*|BSG_ENST00000346916.4_Nonsense_Mutation_p.S103*|BSG_ENST00000353555.4_Nonsense_Mutation_p.S167*	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	283	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCGGTCAGAGCTACAC	0.627																																																	0													54	54	54					19																	581370		2203	4299	6502	SO:0001587	stop_gained	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.848C>G	19.37:g.581370C>G	ENSP00000333769:p.Ser283*		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S283*	ENST00000333511.3	37	c.848	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962350	0.53400	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	.	.	.	4.01	4.01	0.46588	.	0.121668	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-7.8889	15.3112	0.74035	0.0:1.0:0.0:0.0	.	.	.	.	X	103;74;283;167	.	ENSP00000333769:S283X	S	+	2	0	BSG	532370	0.415000	0.25416	0.003000	0.11579	0.002000	0.02628	6.278000	0.72614	2.087000	0.62958	0.462000	0.41574	TCA	BSG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		581370	1	no_errors	ENST00000333511	ensembl	human	known	70_37	nonsense	SNP	0.159	G	G	581370	C	G	581370	4	3	24	1	0	0	0	0	0	1	0	0	1532	838	29	1	906	1	BSG	19	581370	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		581370	58547613	281	3702										
GRIN3B	116444	genome.wustl.edu	37	chr19	1008173	1008173	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctgccccagaactcgccgctCacctccaacctgtccgagtt	7	19	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:1008173C>T	ENST00000234389.3	+	6	2368	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	783					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTCGCCGCTCACCTCCAACC	0.667																																																	0													54	37	43					19																	1008173		2198	4297	6495	SO:0001819	synonymous_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2349C>T	19.37:g.1008173C>T			Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L783	ENST00000234389.3	37	c.2349	CCDS32861.1	19																																																																																			GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.667	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	C			1008173	1	no_errors	ENST00000234389	ensembl	human	known	70_37	silent	SNP	0.991	T	T	1008173	C	T	1008173	2	4	24	1	0	0	0	0	0	0	0	1	6804	813	29	1		1	GRIN3B	19	1008173	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	426803	1008173	58120810	282	3703										
STK11	6794	genome.wustl.edu	37	chr19	1207152	1207152	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aggagggccgtcaagatcctCaagaagaagaagttgcgaag	14	7	2	4	rs587782056		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:1207152C>G	ENST00000326873.7	+	1	1413	c.240C>G	c.(238-240)ctC>ctG	p.L80L	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGATCCTCAAGAAGAAGA	0.617		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											33	37	35					19																	1207152		2022	4167	6189	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.240C>G	19.37:g.1207152C>G			B2RBX7|E7EW76	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L80	ENST00000326873.7	37	c.240	CCDS45896.1	19																																																																																			STK11	-	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		0.617	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	C	NM_000455		1207152	1	no_errors	ENST00000326873	ensembl	human	known	70_37	silent	SNP	1.000	G	G	1207152	C	G	1207152	2	3	24	1	0	0	0	0	0	0	0	1	15317	813	29	1		1	STK11	19	1207152	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	198979	1207152	57921831	283	3704										
DOT1L	84444	genome.wustl.edu	37	chr19	2226332	2226332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ctccgccctcagccagaactCcctgttcacgttccggcccg	8	20	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:2226332C>T	ENST00000398665.3	+	27	3848	c.3812C>T	c.(3811-3813)tCc>tTc	p.S1271F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1271					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCAGAACTCCCTGTTCACG	0.682																																																	0													12	15	14					19																	2226332		2013	4159	6172	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3812C>T	19.37:g.2226332C>T	ENSP00000381657:p.Ser1271Phe		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.S1271F	ENST00000398665.3	37	c.3812	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160083	0.57368	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.37058	1.65;1.22	4.41	4.41	0.53225	.	0.278577	0.25964	N	0.027177	T	0.50769	0.1635	L	0.54323	1.7	0.32682	N	0.515297	D;P	0.71674	0.998;0.946	P;P	0.58013	0.831;0.735	T	0.64774	-0.6328	10	0.87932	D	0	-19.6928	16.359	0.83246	0.0:1.0:0.0:0.0	.	1271;1271	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	F	1271;1271;151	ENSP00000381657:S1271F;ENSP00000407411:S151F	ENSP00000221482:S1271F	S	+	2	0	DOT1L	2177332	1.000000	0.71417	0.891000	0.34965	0.109000	0.19521	3.232000	0.51302	2.180000	0.69256	0.561000	0.74099	TCC	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.682	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	C	NM_032482		2226332	1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2226332	C	T	2226332	3	4	24	1	0	0	0	0	1	0	0	0	4719	855	30	1	3918	1	DOT1L	19	2226332	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1019180	2226332	56902651	284	3705										
GNA11	2767	genome.wustl.edu	37	chr19	3110178	3110178	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agcgggaagagcacgttcatCaagcagatgcgcatcatcca	11	11	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:3110178C>G	ENST00000078429.4	+	2	410	c.168C>G	c.(166-168)atC>atG	p.I56M		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	56					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCACGTTCATCAAGCAGATGC	0.667			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	0													57	40	46					19																	3110178		2203	4300	6503	SO:0001583	missense	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.168C>G	19.37:g.3110178C>G	ENSP00000078429:p.Ile56Met		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.I56M	ENST00000078429.4	37	c.168	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	15.50	2.851375	0.51270	.	.	ENSG00000088256	ENST00000078429	D	0.88818	-2.43	3.92	1.29	0.21616	G protein alpha subunit, helical insertion (1);	0.077975	0.47455	D	0.000224	D	0.92264	0.7546	M	0.79123	2.44	0.49687	D	0.999817	D	0.89917	1.0	D	0.85130	0.997	D	0.90196	0.4253	10	0.87932	D	0	.	6.0288	0.19669	0.0:0.5567:0.0:0.4433	.	56	P29992	GNA11_HUMAN	M	56	ENSP00000078429:I56M	ENSP00000078429:I56M	I	+	3	3	GNA11	3061178	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	2.282000	0.43461	0.630000	0.30394	0.455000	0.32223	ATC	GNA11	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.667	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	C	NM_002067		3110178	1	no_errors	ENST00000078429	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3110178	C	G	3110178	3	3	24	1	0	0	0	0	1	0	0	0	6518	816	29	1	174	1	GNA11	19	3110178	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	883846	3110178	56018805	285	3706										
MUC16	94025	genome.wustl.edu	37	chr19	9060718	9060718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgaggtgatattcatactggGaggtgaagtggtcacaggtt	15	4	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:9060718G>A	ENST00000397910.4	-	3	26931	c.26728C>T	c.(26728-26730)Ccc>Tcc	p.P8910S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8912	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCATACTGGGAGGTGAAGTG	0.488																																																	0													163	156	158					19																	9060718		2027	4199	6226	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26728C>T	19.37:g.9060718G>A	ENSP00000381008:p.Pro8910Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P8910S	ENST00000397910.4	37	c.26728	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	-	5.211	0.224404	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	2.15	-4.3	0.03710	.	.	.	.	.	T	0.12518	0.0304	N	0.19112	0.55	.	.	.	B	0.12630	0.006	B	0.06405	0.002	T	0.27536	-1.0071	8	0.87932	D	0	.	3.125	0.06405	0.4183:0.0:0.3934:0.1883	.	8910	B5ME49	.	S	8910	ENSP00000381008:P8910S	ENSP00000381008:P8910S	P	-	1	0	MUC16	8921718	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.731000	0.04909	-0.995000	0.03459	0.298000	0.19748	CCC	MUC16	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9060718	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9060718	G	A	9060718	3	1	24	1	0	0	0	0	1	0	0	0	9996	1174	41	1	17123	1	MUC16	19	9060718	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5950540	9060718	50068265	286	3707										
ZNF266	10781	genome.wustl.edu	37	chr19	9524429	9524429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gttcactaaggcgagaggatCtggcaaaggcctttccacat	11	10	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:9524429C>T	ENST00000592904.1	-	5	3248	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K	ZNF266_ENST00000588933.1_Missense_Mutation_p.R391K|ZNF266_ENST00000592292.1_Missense_Mutation_p.R391K|ZNF266_ENST00000361451.2_Missense_Mutation_p.R391K|ZNF266_ENST00000361151.1_Missense_Mutation_p.R391K|ZNF266_ENST00000590306.1_Missense_Mutation_p.R391K|ZNF266_ENST00000588221.1_Missense_Mutation_p.R391K			Q14584	ZN266_HUMAN	zinc finger protein 266	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GCGAGAGGATCTGGCAAAGGC	0.448																																																	0													75	76	75					19																	9524429		2203	4300	6503	SO:0001583	missense	10781			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1172G>A	19.37:g.9524429C>T	ENSP00000466714:p.Arg391Lys		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R391K	ENST00000592904.1	37	c.1172	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502533	0.44455	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.07114	3.22;3.22	2.53	-5.06	0.02946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39840	-0.9594	9	0.33940	T	0.23	.	1.4861	0.02447	0.1282:0.3736:0.2547:0.2435	.	391	Q14584	ZN266_HUMAN	K	391	ENSP00000354680:R391K;ENSP00000355047:R391K	ENSP00000355047:R391K	R	-	2	0	ZNF266	9385429	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-3.752000	0.00375	-1.719000	0.01382	0.555000	0.69702	AGA	ZNF266	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1	C			9524429	-1	no_errors	ENST00000361151	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9524429	C	T	9524429	3	4	24	1	0	0	0	0	1	0	0	0	17835	913	32	1	481	1	ZNF266	19	9524429	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	463711	9524429	49604554	287	3708										
ZNF442	79973	genome.wustl.edu	37	chr19	12461293	12461293	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtttctctccagtgtgagttCtttcatgactttgcagtgaa	9	8	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:12461293C>G	ENST00000242804.4	-	6	1688	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	ZNF442_ENST00000438182.1_Missense_Mutation_p.R300T|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	369					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.R369I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AGTGTGAGTTCTTTCATGACT	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											190	184	186					19																	12461293		2203	4298	6501	SO:0001583	missense	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1106G>C	19.37:g.12461293C>G	ENSP00000242804:p.Arg369Thr		B4DJ48	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R369T	ENST00000242804.4	37	c.1106	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176870	0.38413	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25414	1.8;1.8	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.83312	2.635	0.27952	N	0.937099	P	0.34562	0.457	B	0.34301	0.179	T	0.29027	-1.0025	9	0.62326	D	0.03	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	369	Q9H7R0	ZN442_HUMAN	T	369;300	ENSP00000242804:R369T;ENSP00000388634:R300T	ENSP00000242804:R369T	R	-	2	0	ZNF442	12322293	0.000000	0.05858	0.661000	0.29709	0.975000	0.68041	-0.282000	0.08445	0.737000	0.32582	0.313000	0.20887	AGA	ZNF442	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	C	NM_030824		12461293	-1	no_errors	ENST00000242804	ensembl	human	known	70_37	missense	SNP	0.940	G	G	12461293	C	G	12461293	3	3	24	1	0	0	0	0	1	0	0	0	17945	913	32	1	781	1	ZNF442	19	12461293	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2936864	12461293	46667690	288	3709										
TSSK6	51079	genome.wustl.edu	37	chr19	19626097	19626097	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgacgaagtccgggggcgctCgccgccggtccaccaccttg	14	16	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:19626097C>T	ENST00000507754.4	+	0	0				TSSK6_ENST00000585580.3_Missense_Mutation_p.R47Q|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.R47Q|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGGGGGCGCTCGCCGCCGGTC	0.627																																																	0													61	56	57					19																	19626097		2203	4300	6503	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626097C>T	Exception_encountered		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R47Q	ENST00000507754.4	37	c.140	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444910	0.43429	.	.	ENSG00000178093	ENST00000360913	T	0.65178	-0.14	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39687	U	0.001289	T	0.38427	0.1040	N	0.11427	0.14	0.38669	D	0.952251	B	0.18166	0.026	B	0.17098	0.017	T	0.35450	-0.9788	10	0.02654	T	1	.	13.7493	0.62897	0.0:1.0:0.0:0.0	.	47	Q9BXA6	TSSK6_HUMAN	Q	47	ENSP00000354168:R47Q	ENSP00000354168:R47Q	R	-	2	0	TSSK6	19487097	0.373000	0.25073	1.000000	0.80357	0.971000	0.66376	1.438000	0.35002	2.324000	0.78689	0.306000	0.20318	CGA	TSSK6	-	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		0.627	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TSSK6	HGNC	protein_coding	OTTHUMT00000367916.6	C	NM_015965		19626097	-1	no_errors	ENST00000360913	ensembl	human	known	70_37	missense	SNP	0.982	T	T	19626097	C	T	19626097	1	4	24	0	1	0	0	0	0	0	0	0	16703	884	31	1		1	TSSK6	19	19626097	5'Flank	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	7164804	19626097	39502886	289	3710										
NUDT19	390916	genome.wustl.edu	37	chr19	33183126	33183126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgcgccgcaccacgggccgcCgcgcttcggcctgggcccgg	16	20	0	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:33183126C>T	ENST00000397061.3	+	1	260	c.260C>T	c.(259-261)cCg>cTg	p.P87L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	87	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CACGGGCCGCCGCGCTTCGGC	0.726																																																	0													10	12	11					19																	33183126		1862	3993	5855	SO:0001583	missense	390916				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.260C>T	19.37:g.33183126C>T	ENSP00000380251:p.Pro87Leu			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.P87L	ENST00000397061.3	37	c.260	CCDS42543.1	19	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203902	0.58234	.	.	ENSG00000213965	ENST00000397061	T	0.46819	0.86	4.12	4.12	0.48240	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.228496	0.35838	U	0.002957	T	0.43478	0.1249	N	0.12746	0.255	0.58432	D	0.999997	D	0.69078	0.997	P	0.59825	0.864	T	0.47381	-0.9122	10	0.72032	D	0.01	-33.7784	10.0346	0.42120	0.0:0.8997:0.0:0.1003	.	87	A8MXV4	NUD19_HUMAN	L	87	ENSP00000380251:P87L	ENSP00000380251:P87L	P	+	2	0	NUDT19	37874966	0.339000	0.24784	0.151000	0.22473	0.034000	0.12701	2.305000	0.43664	2.265000	0.75225	0.313000	0.20887	CCG	NUDT19	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.726	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUDT19	HGNC	protein_coding	OTTHUMT00000450338.3	C	XM_372723		33183126	1	no_errors	ENST00000397061	ensembl	human	novel	70_37	missense	SNP	0.597	T	T	33183126	C	T	33183126	3	4	24	1	0	0	0	0	1	0	0	0	10760	652	23	2	262	2	NUDT19	19	33183126	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	13557029	33183126	25945857	290	3711										
ACTN4	81	genome.wustl.edu	37	chr19	39219659	39219659	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gaggccgagttcaaccgcatCatgagcctggtcgaccccaa	11	14	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:39219659C>T	ENST00000252699.2	+	20	2518	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Silent_p.I424I|ACTN4_ENST00000390009.3_Silent_p.I595I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	814	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAACCGCATCATGAGCCTGG	0.637																																					Colon(168;199 1940 10254 46213 46384)												0													116	90	98					19																	39219659		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2442C>T	19.37:g.39219659C>T			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.I814	ENST00000252699.2	37	c.2442	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	C			39219659	1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39219659	C	T	39219659	2	4	24	1	0	0	0	0	0	0	0	1	207	816	29	1		1	ACTN4	19	39219659	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	6036533	39219659	19909324	291	3712			2	19		3	3	271	N	G_C	4.269835e-06
ACTN4	81	genome.wustl.edu	37	chr19	39219713	39219713	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtgaccttccaagccttcatCgacttcatgtcgcgggagac	10	13	2	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:39219713C>T	ENST00000252699.2	+	20	2572	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Silent_p.I442I|ACTN4_ENST00000390009.3_Silent_p.I613I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	832	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGCCTTCATCGACTTCATGT	0.607																																					Colon(168;199 1940 10254 46213 46384)												0													127	101	110					19																	39219713		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2496C>T	19.37:g.39219713C>T			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.I832	ENST00000252699.2	37	c.2496	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	C			39219713	1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	0.987	T	T	39219713	C	T	39219713	2	4	24	1	0	0	0	0	0	0	0	1	207	874	31	1		1	ACTN4	19	39219713	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	54	39219713	19909270	292	3713			2	19		3	3	271	N	G_C	4.269835e-06
ACTN4	81	genome.wustl.edu	37	chr19	39219929	39219929	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cccagaacttcatcacagctGaggagctgcggagagagctg	13	11	2	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:39219929G>T	ENST00000252699.2	+	21	2669	c.2593G>T	c.(2593-2595)Gag>Tag	p.E865*	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Nonsense_Mutation_p.E475*|ACTN4_ENST00000390009.3_Nonsense_Mutation_p.E646*	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	865	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATCACAGCTGAGGAGCTGCG	0.687																																					Colon(168;199 1940 10254 46213 46384)												0													29	29	29					19																	39219929		2203	4297	6500	SO:0001587	stop_gained	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2593G>T	19.37:g.39219929G>T	ENSP00000252699:p.Glu865*		A4K467|D6PXK4|O76048	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E865*	ENST00000252699.2	37	c.2593	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.775385	0.96922	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	.	.	.	3.62	3.62	0.41486	.	0.144445	0.44285	D	0.000471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.5716	0.68216	0.0:0.0:1.0:0.0	.	.	.	.	X	865;475;646;296	.	ENSP00000252699:E865X	E	+	1	0	ACTN4	43911769	1.000000	0.71417	0.970000	0.41538	0.904000	0.53231	9.545000	0.98095	2.035000	0.60131	0.561000	0.74099	GAG	ACTN4	-	pfam_EF-hand_Ca_insen		0.687	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	G			39219929	1	no_errors	ENST00000252699	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	39219929	G	T	39219929	4	4	24	1	0	0	0	0	0	1	0	0	207	1291	45	3	2675	3	ACTN4	19	39219929	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	216	39219929	19909054	293	3714			2	19		3	3	271	N	G_C	4.269835e-06
ZNF283	284349	genome.wustl.edu	37	chr19	44352686	44352686	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtggctcaaaacttgttcatGagagaactcatagtaatgat	9	6	3	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44352686G>A	ENST00000324461.7	+	7	2230	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ZNF283_ENST00000588797.1_Missense_Mutation_p.E506K	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ACTTGTTCATGAGAGAACTCA	0.368																																																	0													93	98	97					19																	44352686		1962	4157	6119	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1933G>A	19.37:g.44352686G>A	ENSP00000327314:p.Glu645Lys		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E645K	ENST00000324461.7	37	c.1933	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053396	0.36181	.	.	ENSG00000167637	ENST00000324461	T	0.41758	0.99	2.89	-0.911	0.10507	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17831	0.0428	N	0.10629	0.01	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.06092	-1.0846	9	0.38643	T	0.18	.	3.8047	0.08773	0.2733:0.3314:0.3952:0.0	.	645	Q8N7M2	ZN283_HUMAN	K	645	ENSP00000327314:E645K	ENSP00000327314:E645K	E	+	1	0	ZNF283	49044526	0.000000	0.05858	0.274000	0.24659	0.175000	0.22909	-0.475000	0.06599	0.115000	0.18071	-0.252000	0.11476	GAG	ZNF283	-	NULL		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44352686	1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.949	A	A	44352686	G	A	44352686	3	1	24	1	0	0	0	0	1	0	0	0	17850	1291	45	1	1947	1	ZNF283	19	44352686	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5132757	44352686	14776297	294	3715										
ZNF283	284349	genome.wustl.edu	37	chr19	44352764	44352764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgtggacaacttactcaaatGagaaaattgatactgatgaa	8	5	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44352764G>C	ENST00000324461.7	+	7	2308	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.E532Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTACTCAAATGAGAAAATTGA	0.323																																																	0													54	57	56					19																	44352764		1868	4102	5970	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.2011G>C	19.37:g.44352764G>C	ENSP00000327314:p.Glu671Gln		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E671Q	ENST00000324461.7	37	c.2011	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217382	0.22373	.	.	ENSG00000167637	ENST00000324461	T	0.07021	3.23	3.01	-1.4	0.08968	.	.	.	.	.	T	0.02156	0.0067	N	0.02751	-0.505	0.58432	D	0.999999	B	0.27498	0.18	B	0.24848	0.056	T	0.46762	-0.9168	9	0.02654	T	1	.	4.4621	0.11671	0.2917:0.1812:0.5271:0.0	.	671	Q8N7M2	ZN283_HUMAN	Q	671	ENSP00000327314:E671Q	ENSP00000327314:E671Q	E	+	1	0	ZNF283	49044604	0.002000	0.14202	0.005000	0.12908	0.693000	0.40251	0.074000	0.14662	0.044000	0.15775	0.467000	0.42956	GAG	ZNF283	-	NULL		0.323	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44352764	1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.870	C	C	44352764	G	C	44352764	3	2	24	1	0	0	0	0	1	0	0	0	17850	1291	45	1	2025	1	ZNF283	19	44352764	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	78	44352764	14776219	295	3716										
ZNF222	7673	genome.wustl.edu	37	chr19	44536300	44536300	+	Missense_Mutation	SNP	C	C	T													0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaaaagcttctgttacatctCagcccttcatattcatcaga							TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44536300C>T	ENST00000187879.8	+	4	635	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.S198L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTTACATCTCAGCCCTTCAT	0.418																																																	0													154	160	158					19																	44536300		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.473C>T	19.37:g.44536300C>T	ENSP00000187879:p.Ser158Leu		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S198L	ENST00000187879.8	37	c.593	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675105	0.67928	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.28666	1.6;1.6	2.79	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46425	0.1392	L	0.53249	1.67	0.09310	N	1	D;D	0.67145	0.995;0.996	D;D	0.70016	0.928;0.967	T	0.14868	-1.0457	9	0.66056	D	0.02	.	9.0084	0.36127	0.2213:0.7787:0.0:0.0	.	198;158	G5E9B9;Q9UK12	.;ZN222_HUMAN	L	198;158;104	ENSP00000375822:S198L;ENSP00000187879:S158L	ENSP00000187879:S158L	S	+	2	0	ZNF222	49228140	0.000000	0.05858	0.002000	0.10522	0.847000	0.48162	0.219000	0.17641	1.531000	0.49152	0.205000	0.17691	TCA	ZNF222	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	C			44536300	1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44536300	C	T	44536300	3	4	24	1	0	0	0	0	1	0	0	0	17806	838	29	1	626	1	ZNF222	19	44536300	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	183536	44536300	14592683	296	3717	17	2								
ZNF222	7673	genome.wustl.edu	37	chr19	44536308	44536308	+	Missense_Mutation	SNP	C	C	G													0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tctgttacatctcagcccttCatattcatcagagggtccac							TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:44536308C>G	ENST00000187879.8	+	4	643	c.481C>G	c.(481-483)Cat>Gat	p.H161D	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.H201D	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTCAGCCCTTCATATTCATCA	0.418																																																	0													152	158	155					19																	44536308		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.481C>G	19.37:g.44536308C>G	ENSP00000187879:p.His161Asp		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H201D	ENST00000187879.8	37	c.601	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786277	0.16189	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.29142	1.58;1.58	2.79	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	N	0.13140	0.3	0.09310	N	1	P;B	0.40332	0.713;0.009	B;B	0.38755	0.281;0.014	T	0.13602	-1.0503	9	0.33940	T	0.23	.	1.7321	0.02934	0.4538:0.2719:0.1547:0.1195	.	201;161	G5E9B9;Q9UK12	.;ZN222_HUMAN	D	201;161;107	ENSP00000375822:H201D;ENSP00000187879:H161D	ENSP00000187879:H161D	H	+	1	0	ZNF222	49228148	0.000000	0.05858	0.000000	0.03702	0.814000	0.46013	-3.397000	0.00485	0.049000	0.15920	0.205000	0.17691	CAT	ZNF222	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	C			44536308	1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.000	G	G	44536308	C	G	44536308	3	3	24	1	0	0	0	0	1	0	0	0	17806	826	29	1	634	1	ZNF222	19	44536308	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	8	44536308	14592675	297	3718	17	2								
CBLC	23624	genome.wustl.edu	37	chr19	45281228	45281228	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgtgggggcgacagtgggaaGaggcccgcgccctgggccgg	21	12	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:45281228G>A	ENST00000270279.3	+	1	103	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CBLC_ENST00000341505.4_Missense_Mutation_p.E14K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	14	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACAGTGGGAAGAGGCCCGCGC	0.726			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													9	11	10					19																	45281228		1938	3865	5803	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.40G>A	19.37:g.45281228G>A	ENSP00000270279:p.Glu14Lys		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.E14K	ENST00000270279.3	37	c.40	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687737	0.48097	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.77098	-1.07;-1.07	3.45	2.4	0.29515	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.105878	0.36409	N	0.002610	T	0.66636	0.2809	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.003	T	0.60141	-0.7321	10	0.66056	D	0.02	-14.0244	6.9741	0.24664	0.1301:0.0:0.8699:0.0	.	14;14	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	K	14	ENSP00000270279:E14K;ENSP00000340250:E14K	ENSP00000270279:E14K	E	+	1	0	CBLC	49973068	0.008000	0.16893	0.005000	0.12908	0.200000	0.23975	1.616000	0.36933	0.790000	0.33803	-0.261000	0.10672	GAG	CBLC	-	pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx		0.726	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	G	NM_012116		45281228	1	no_errors	ENST00000270279	ensembl	human	known	70_37	missense	SNP	0.004	A	A	45281228	G	A	45281228	3	1	24	1	0	0	0	0	1	0	0	0	2707	943	33	1	42	1	CBLC	19	45281228	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	744920	45281228	13847755	298	3719										
PRR12	57479	genome.wustl.edu	37	chr19	50098327	50098327	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgccacctcccaactcagttCaacctgctggcttcctcttc	5	19	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:50098327C>G	ENST00000418929.2	+	4	747	c.735C>G	c.(733-735)ttC>ttG	p.F245L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAACTCAGTTCAACCTGCTGG	0.697																																																	0													10	12	11					19																	50098327		1900	4002	5902	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.735C>G	19.37:g.50098327C>G	ENSP00000394510:p.Phe245Leu		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.F245L	ENST00000418929.2	37	c.735	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	12.20	1.868058	0.32977	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.63	2.59	0.31030	.	.	.	.	.	T	0.71187	0.3310	.	.	.	0.33963	D	0.645824	D	0.67145	0.996	D	0.73380	0.98	T	0.78229	-0.2285	7	0.59425	D	0.04	.	10.6641	0.45719	0.0:0.8938:0.0:0.1062	.	245	Q9ULL5-3	.	L	245	.	ENSP00000394510:F245L	F	+	3	2	PRR12	54790139	0.996000	0.38824	1.000000	0.80357	0.961000	0.63080	1.058000	0.30504	2.056000	0.61249	0.563000	0.77884	TTC	PRR12	-	NULL		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50098327	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	50098327	C	G	50098327	3	3	24	1	0	0	0	0	1	0	0	0	12611	825	29	1	749	1	PRR12	19	50098327	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4817099	50098327	9030656	299	3720										
NUP62	23636	genome.wustl.edu	37	chr19	50411753	50411753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gagctgtgcatcgatgttctCagccagcttgtaggttttct	11	9	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:50411753C>T	ENST00000596217.1	-	2	3199	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	NUP62_ENST00000422090.2_Missense_Mutation_p.E438K|NUP62_ENST00000352066.3_Missense_Mutation_p.E438K|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.E362K|NUP62_ENST00000413454.1_Missense_Mutation_p.E438K|NUP62_ENST00000597029.1_Missense_Mutation_p.E438K			P37198	NUP62_HUMAN	nucleoporin 62kDa	438					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCGATGTTCTCAGCCAGCTTG	0.602																																																	0													170	148	156					19																	50411753		2203	4300	6503	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1312G>A	19.37:g.50411753C>T	ENSP00000471191:p.Glu438Lys		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.E438K	ENST00000596217.1	37	c.1312	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868978	0.91587	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.54675	0.56;0.56;0.56	5.02	5.02	0.67125	Nucleoporin, NSP1-like, C-terminal (1);	0.000000	0.64402	U	0.000001	T	0.55561	0.1928	M	0.71920	2.185	0.80722	D	1	B	0.28998	0.23	B	0.33690	0.168	T	0.53143	-0.8480	9	.	.	.	-18.7066	16.2382	0.82393	0.0:1.0:0.0:0.0	.	438	P37198	NUP62_HUMAN	K	438	ENSP00000305503:E438K;ENSP00000407331:E438K;ENSP00000387991:E438K	.	E	-	1	0	NUP62	55103565	1.000000	0.71417	0.981000	0.43875	0.898000	0.52572	7.346000	0.79347	2.775000	0.95449	0.655000	0.94253	GAG	NUP62	-	NULL		0.602	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719		50411753	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	0.999	T	T	50411753	C	T	50411753	3	4	24	1	0	0	0	0	1	0	0	0	10792	835	29	1	260	1	NUP62	19	50411753	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	313426	50411753	8717230	300	3721										
CLEC11A	6320	genome.wustl.edu	37	chr19	51228588	51228588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cggcgcccagcccagcgcctCgccgcatccgctcagcccgg	12	22	1	0	rs368757096		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:51228588C>T	ENST00000250340.4	+	4	1033	c.836C>T	c.(835-837)tCg>tTg	p.S279L	CLEC11A_ENST00000599973.1_Silent_p.L295L	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	279	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCAGCGCCTCGCCGCATCCG	0.716																																																	0								C	LEU/SER	1,4343		0,1,2171	12	15	14		836	3.5	0.7	19		14	0,8482		0,0,4241	no	missense	CLEC11A	NM_002975.2	145	0,1,6412	TT,TC,CC		0.0,0.023,0.0078	benign	279/324	51228588	1,12825	2172	4241	6413	SO:0001583	missense	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.836C>T	19.37:g.51228588C>T	ENSP00000250340:p.Ser279Leu		B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S279L	ENST00000250340.4	37	c.836	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526861	0.44969	2.3E-4	0.0	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.38887	1.11	4.59	3.48	0.39840	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.998260	0.08102	N	0.997528	T	0.23846	0.0577	N	0.08118	0	0.22213	N	0.999289	B	0.23591	0.088	B	0.17722	0.019	T	0.06935	-1.0799	10	0.72032	D	0.01	-3.1825	6.9794	0.24694	0.0:0.7195:0.1788:0.1018	.	279	Q9Y240	CLC11_HUMAN	L	279;201	ENSP00000250340:S279L	ENSP00000250340:S279L	S	+	2	0	CLEC11A	55920400	0.974000	0.33945	0.680000	0.29994	0.391000	0.30476	2.421000	0.44688	2.259000	0.74868	0.455000	0.32223	TCG	CLEC11A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.716	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	C	NM_002975		51228588	1	no_errors	ENST00000250340	ensembl	human	known	70_37	missense	SNP	0.639	T	T	51228588	C	T	51228588	3	4	24	1	0	0	0	0	1	0	0	0	3501	893	31	1	850	1	CLEC11A	19	51228588	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	816835	51228588	7900395	301	3722										
SIGLEC10	89790	genome.wustl.edu	37	chr19	51914460	51914460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgtggcataatggagctcctCttggctctcctgggattctg	12	11	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:51914460C>G	ENST00000339313.5	-	11	2103	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E485Q|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E520Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E420Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E478Q|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.E568Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E510Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E605Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E663Q			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	663					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGAGCTCCTCTTGGCTCTCC	0.547																																																	0													181	176	178					19																	51914460		2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1987G>C	19.37:g.51914460C>G	ENSP00000345243:p.Glu663Gln		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E663Q	ENST00000339313.5	37	c.1987	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	8.127	0.782195	0.16189	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.52057	0.88;2.09;1.49;0.86;1.92;1.7;0.68;1.86;0.86	4.55	3.52	0.40303	.	0.526148	0.15957	N	0.236469	T	0.40645	0.1125	L	0.46741	1.465	0.09310	N	0.999999	B;P;B;B;P;P;B	0.43750	0.226;0.816;0.193;0.292;0.545;0.602;0.004	B;B;B;B;B;B;B	0.42112	0.064;0.376;0.079;0.165;0.165;0.343;0.006	T	0.16988	-1.0384	10	0.36615	T	0.2	.	8.4354	0.32784	0.0:0.8946:0.0:0.1054	.	520;478;568;568;510;605;663	C9JM10;E9PL79;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	Q	568;485;420;663;510;478;605;520;663	ENSP00000342389:E568Q;ENSP00000396742:E485Q;ENSP00000395475:E420Q;ENSP00000348646:E663Q;ENSP00000408387:E510Q;ENSP00000431444:E478Q;ENSP00000389132:E605Q;ENSP00000414324:E520Q;ENSP00000345243:E663Q	ENSP00000345243:E663Q	E	-	1	0	SIGLEC10	56606272	0.041000	0.20044	0.238000	0.24106	0.118000	0.20060	1.140000	0.31516	1.138000	0.42230	0.650000	0.86243	GAG	SIGLEC10	-	NULL		0.547	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51914460	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.201	G	G	51914460	C	G	51914460	3	3	24	1	0	0	0	0	1	0	0	0	14336	922	32	1	110	1	SIGLEC10	19	51914460	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	685872	51914460	7214523	302	3723										
ZNF600	162966	genome.wustl.edu	37	chr19	53269068	53269068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttaaggtgtgatttgcgactGaaaactttgtcacatgtttc	9	6	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:53269068G>A	ENST00000338230.3	-	3	2208	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATTTGCGACTGAAAACTTTGT	0.368																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													113	113	113					19																	53269068		2203	4300	6503	SO:0001819	synonymous_variant	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1941C>T	19.37:g.53269068G>A			Q6MZR0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F647	ENST00000338230.3	37	c.1941	CCDS12856.1	19																																																																																			ZNF600	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	G	NM_198457		53269068	-1	no_errors	ENST00000338230	ensembl	human	known	70_37	silent	SNP	0.126	A	A	53269068	G	A	53269068	2	1	24	1	0	0	0	0	0	0	0	1	18060	1281	45	1		1	ZNF600	19	53269068	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1354608	53269068	5859915	303	3724										
LENG8	114823	genome.wustl.edu	37	chr19	54968077	54968077	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcctcacctgtgcccccgacCcgtccaccgtgcgccctgtg	10	21	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:54968077C>G	ENST00000326764.5	+	11	2187	c.1708C>G	c.(1708-1710)Ccg>Gcg	p.P570A	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	533										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCCCCCGACCCGTCCACCGT	0.667																																																	0													34	31	32					19																	54968077		2203	4298	6501	SO:0001583	missense	114823			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1708C>G	19.37:g.54968077C>G	ENSP00000318374:p.Pro570Ala		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.P570A	ENST00000326764.5	37	c.1708	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383630	0.82792	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.40476	1.03;1.03;1.03	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	L	0.60012	1.86	0.80722	D	1	P;P	0.40931	0.733;0.65	P;P	0.54270	0.747;0.646	T	0.57329	-0.7830	10	0.52906	T	0.07	-32.9077	15.0693	0.72024	0.0:1.0:0.0:0.0	.	570;533	Q96PV6-2;F8W9Q9	.;.	A	570;533;533;570	ENSP00000318374:P570A;ENSP00000365709:P533A;ENSP00000388053:P570A	ENSP00000301196:P533A	P	+	1	0	LENG8	59659889	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.948000	0.63590	2.345000	0.79718	0.561000	0.74099	CCG	LENG8	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	C	NM_052925		54968077	1	no_errors	ENST00000326764	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54968077	C	G	54968077	3	3	24	1	0	0	0	0	1	0	0	0	8744	623	22	4	1746	4	LENG8	19	54968077	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	1699009	54968077	4160906	304	3725										
ZIM2	23619	genome.wustl.edu	37	chr19	57301275	57301275	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tggcagattgtctaacatctCtgtgttcctcttttctgcag	8	10	4	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:57301275C>T	ENST00000391708.3	-	9	984	c.442G>A	c.(442-444)Gag>Aag	p.E148K	AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.E148K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E148K|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.E148K|ZIM2_ENST00000601070.1_Missense_Mutation_p.E148K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCTAACATCTCTGTGTTCCTC	0.473																																																	0													80	68	72					19																	57301275		2203	4300	6503	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.442G>A	19.37:g.57301275C>T	ENSP00000375589:p.Glu148Lys		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E148K	ENST00000391708.3	37	c.442	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654266	0.29425	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04551	3.6;3.6	3.34	-6.3	0.02007	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.49790	-0.8902	8	0.09843	T	0.71	.	14.7662	0.69640	0.0:0.7949:0.0:0.2051	.	148	Q9NZV7	ZIM2_HUMAN	K	148	ENSP00000375589:E148K;ENSP00000221722:E148K	ENSP00000221722:E148K	E	-	1	0	ZIM2	61993087	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-2.348000	0.01094	-1.704000	0.01407	-0.471000	0.05019	GAG	ZIM2	-	NULL		0.473	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	C			57301275	-1	no_errors	ENST00000221722	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57301275	C	T	57301275	3	4	24	1	0	0	0	0	1	0	0	0	17714	922	32	1	1157	1	ZIM2	19	57301275	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2333198	57301275	1827708	305	3726										
ZNF419	79744	genome.wustl.edu	37	chr19	58004285	58004285	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	attgcttctgtaggactgctCagttcaaacattcagcaaca	7	10	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr19:58004285C>G	ENST00000221735.7	+	5	546	c.360C>G	c.(358-360)ctC>ctG	p.L120L	ZNF419_ENST00000424930.2_Silent_p.L121L|ZNF419_ENST00000426954.2_Silent_p.L108L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Silent_p.L88L|ZNF419_ENST00000442920.2_Silent_p.L107L|ZNF419_ENST00000415379.2_Silent_p.L74L|ZNF419_ENST00000354197.4_Silent_p.L108L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TAGGACTGCTCAGTTCAAACA	0.473																																																	0													75	76	76					19																	58004285		2203	4300	6503	SO:0001819	synonymous_variant	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.360C>G	19.37:g.58004285C>G			B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L121	ENST00000221735.7	37	c.363	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	C	1.026	-0.683364	0.03353	.	.	ENSG00000105136	ENST00000427558	.	.	.	1.45	-1.07	0.09968	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6393	0.04966	0.4876:0.3333:0.0:0.1791	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF419	62696097	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.061000	0.03472	-0.229000	0.09854	0.205000	0.17691	.	ZNF419	-	NULL		0.473	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	C	NM_024691		58004285	1	no_errors	ENST00000424930	ensembl	human	known	70_37	silent	SNP	0.000	G	G	58004285	C	G	58004285	2	3	24	1	0	0	0	0	0	0	0	1	17926	813	29	1		1	ZNF419	19	58004285	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	703010	58004285	1124698	306	3727										
RASSF2	9770	genome.wustl.edu	37	chr20	4764948	4764948	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgctggggtctcggctatctCctccagcctctgtcgaatca	10	14	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:4764948C>G	ENST00000379400.3	-	12	1147	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	RASSF2_ENST00000379376.2_Missense_Mutation_p.E318Q|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	318	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCGGCTATCTCCTCCAGCCTC	0.592																																					Melanoma(158;1891 3343 50738)												0													118	104	109					20																	4764948		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.952G>C	20.37:g.4764948C>G	ENSP00000368710:p.Glu318Gln		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E318Q	ENST00000379400.3	37	c.952	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914485	0.33815	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10477	2.87;2.87	5.21	5.21	0.72293	SARAH (1);	0.340069	0.35466	N	0.003196	T	0.05318	0.0141	N	0.11064	0.09	0.44201	D	0.997024	P	0.42827	0.791	B	0.35240	0.198	T	0.47032	-0.9148	10	0.09084	T	0.74	.	15.5925	0.76543	0.0:1.0:0.0:0.0	.	318	P50749	RASF2_HUMAN	Q	318	ENSP00000368710:E318Q;ENSP00000368684:E318Q	ENSP00000368684:E318Q	E	-	1	0	RASSF2	4712948	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	5.123000	0.64703	2.708000	0.92522	0.655000	0.94253	GAG	RASSF2	-	pfscan_SARAH		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	C	NM_014737		4764948	-1	no_errors	ENST00000379376	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4764948	C	G	4764948	3	3	24	1	0	0	0	0	1	0	0	0	13116	864	30	1	32	1	RASSF2	20	4764948	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		4764948	58260572	307	3728										
COX4I2	84701	genome.wustl.edu	37	chr20	30226891	30226891	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aagacgagggatgcacagctCagaaggcaccagtgagacct	13	10	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:30226891C>G	ENST00000376075.3	+	2	146	c.71C>G	c.(70-72)tCa>tGa	p.S24*	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	24					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ATGCACAGCTCAGAAGGCACC	0.607																																																	0													126	102	110					20																	30226891		2203	4300	6503	SO:0001587	stop_gained	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.71C>G	20.37:g.30226891C>G	ENSP00000365243:p.Ser24*		Q6GTF4|Q9H0Z4	Nonsense_Mutation	SNP	pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4	p.S24*	ENST00000376075.3	37	c.71	CCDS13187.1	20	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124588	0.56613	.	.	ENSG00000131055	ENST00000376075	.	.	.	3.99	2.99	0.34606	.	0.382426	0.23045	N	0.052564	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.4429	6.9669	0.24627	0.0:0.864:0.0:0.136	.	.	.	.	X	24	.	ENSP00000365243:S24X	S	+	2	0	COX4I2	29690552	0.677000	0.27577	0.917000	0.36280	0.008000	0.06430	1.631000	0.37092	1.168000	0.42723	-0.367000	0.07326	TCA	COX4I2	-	NULL		0.607	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX4I2	HGNC	protein_coding	OTTHUMT00000078548.1	C	NM_032609		30226891	1	no_errors	ENST00000376075	ensembl	human	known	70_37	nonsense	SNP	0.929	G	G	30226891	C	G	30226891	4	3	24	1	0	0	0	0	0	1	0	0	3775	838	29	1	73	1	COX4I2	20	30226891	Nonsense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	25461943	30226891	32798629	308	3729										
C20orf134	170487	genome.wustl.edu	37	chr20	32256040	32256040	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gctgtacgatgtgttcaactGagtcaggctggactgggggg	17	7	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:32256040G>C	ENST00000330271.4	+	1	1737	c.737G>C	c.(736-738)tGa>tCa	p.*246S	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	0																	GTGTTCAACTGAGTCAGGCTG	0.607											OREG0025871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	33	31					20																	32256040		2196	4284	6480	SO:0001578	stop_lost	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 134"	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.737G>C	20.37:g.32256040G>C	ENSP00000329647:p.*246Serext*18	831	B9EH76	Nonstop_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.*246S	ENST00000330271.4	37	c.737	CCDS33463.1	20	.	.	.	.	.	.	.	.	.	.	g	14.58	2.578870	0.46006	.	.	ENSG00000182584	ENST00000330271	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7693	0.57410	0.0:0.0:1.0:0.0	.	.	.	.	S	246	.	.	X	+	2	2	C20orf134	31719701	1.000000	0.71417	0.995000	0.50966	0.861000	0.49209	3.029000	0.49712	2.386000	0.81285	0.457000	0.33378	TGA	ACTL10	-	NULL		0.607	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ACTL10	HGNC	protein_coding	OTTHUMT00000078713.1	G			32256040	1	no_errors	ENST00000330271	ensembl	human	putative	70_37	nonstop	SNP	0.998	C	C	32256040	G	C	32256040	4	2	24	1	0	0	0	0	0	0	0	0	2092	1285	45	1	739	1	C20orf134	20	32256040	Nonstop_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2029149	32256040	30769480	309	3730										
EPB41L1	2036	genome.wustl.edu	37	chr20	34797677	34797677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcctgcctgagctcgaccggGacaaaagcgactcggacact	12	14	0	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:34797677G>A	ENST00000338074.2	+	15	2097	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	EPB41L1_ENST00000202028.5_Missense_Mutation_p.D572N|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D537N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D646N|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D572N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	646					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTCGACCGGGACAAAAGCGA	0.617																																																	0													54	50	52					20																	34797677		2203	4300	6503	SO:0001583	missense	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1936G>A	20.37:g.34797677G>A	ENSP00000337168:p.Asp646Asn		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.D646N	ENST00000338074.2	37	c.1936	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576836	0.65878	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.84298	-1.83;-1.74;-1.83;-1.8;-1.8	5.87	4.87	0.63330	.	0.062472	0.64402	D	0.000003	D	0.86948	0.6056	L	0.29908	0.895	0.41654	D	0.989146	P;D;P;B;B;P	0.89917	0.651;1.0;0.501;0.403;0.421;0.557	B;D;B;B;B;B	0.69654	0.104;0.965;0.081;0.12;0.115;0.23	D	0.85848	0.1402	10	0.40728	T	0.16	-12.185	15.2685	0.73681	0.0:0.0:0.8595:0.1405	.	646;935;646;537;537;572	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	N	572;537;646;537;572;935;646;646	ENSP00000202028:D572N;ENSP00000363061:D537N;ENSP00000399214:D572N;ENSP00000337168:D646N;ENSP00000363052:D646N	ENSP00000202028:D572N	D	+	1	0	EPB41L1	34261091	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.786000	0.62425	2.941000	0.99782	0.655000	0.94253	GAC	EPB41L1	-	pirsf_Band_41_protein		0.617	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	G	NM_012156		34797677	1	no_errors	ENST00000338074	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34797677	G	A	34797677	3	1	24	1	0	0	0	0	1	0	0	0	5164	1174	41	1	1990	1	EPB41L1	20	34797677	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2541637	34797677	28227843	310	3731										
C20orf132	140699	genome.wustl.edu	37	chr20	35749320	35749320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acttggcaaggagaaatagtCcctgaagatggccatctttt	10	8	1	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:35749320C>T	ENST00000400441.3	-	16	2095	c.2096G>A	c.(2095-2097)gGa>gAa	p.G699E	MROH8_ENST00000217333.8_Missense_Mutation_p.G528E|MROH8_ENST00000441008.2_Missense_Mutation_p.G685E			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GAGAAATAGTCCCTGAAGATG	0.433																																																	0													117	113	114					20																	35749320		1908	4119	6027	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2096G>A	20.37:g.35749320C>T	ENSP00000383291:p.Gly699Glu		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G699E	ENST00000400441.3	37	c.2096		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.005009|4.005009	0.74932|0.74932	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.67865	.|-0.29;-0.29;-0.29	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.81049|0.81049	0.4742|0.4742	M|M	0.71036|0.71036	2.16|2.16	0.40758|0.40758	D|D	0.982974|0.982974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.82643|0.82643	-0.0356|-0.0356	5|10	.|0.72032	.|D	.|0.01	-17.9374|-17.9374	15.6512|15.6512	0.77095|0.77095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|699;533	.|E7ETR9;Q9H579-2	.|.;.	N|E	726|685;699;528	.|ENSP00000392144:G685E;ENSP00000383291:G699E;ENSP00000217333:G528E	.|ENSP00000217333:G528E	D|G	-|-	1|2	0|0	C20orf132|C20orf132	35182734|35182734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	3.605000|3.605000	0.54088|0.54088	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAC|GGA	C20orf132	-	superfamily_ARM-type_fold		0.433	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		C	NM_152503		35749320	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35749320	C	T	35749320	3	4	24	1	0	0	0	0	1	0	0	0	2091	855	30	1	1068	1	C20orf132	20	35749320	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	951643	35749320	27276200	311	3732										
ZHX3	23051	genome.wustl.edu	37	chr20	39832617	39832617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cttcaggaagctgttagagtCcatggctgcattgtacgttg	12	8	1	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:39832617C>G	ENST00000309060.3	-	4	1355	c.940G>C	c.(940-942)Gac>Cac	p.D314H	ZHX3_ENST00000540170.1_Missense_Mutation_p.D314H|ZHX3_ENST00000559234.1_Missense_Mutation_p.D314H|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.D314H|ZHX3_ENST00000560361.1_Missense_Mutation_p.D314H|ZHX3_ENST00000432768.2_Missense_Mutation_p.D314H|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	314	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTGTTAGAGTCCATGGCTGCA	0.542																																																	0													106	99	102					20																	39832617		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.940G>C	20.37:g.39832617C>G	ENSP00000312222:p.Asp314His		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.D314H	ENST00000309060.3	37	c.940	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.031103|4.031103	0.75504|0.75504	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768|ENST00000421422	T;T;T;T;T|.	0.57273|.	0.41;1.82;1.82;1.58;0.41|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.81636|0.81636	-0.0843|-0.0843	10|5	0.87932|.	D|.	0|.	-32.6016|-32.6016	20.2422|20.2422	0.98381|0.98381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	314;314;314|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	H|A	314;314;314;314;92;314|22	ENSP00000312222:D314H;ENSP00000362360:D314H;ENSP00000442290:D314H;ENSP00000443783:D314H;ENSP00000415498:D314H|.	ENSP00000312222:D314H|.	D|G	-|-	1|2	0|0	ZHX3|ZHX3	39266031|39266031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.818000|7.818000	0.86416|0.86416	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|GGA	ZHX3	-	superfamily_Homeodomain-like,smart_Homeodomain		0.542	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39832617	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39832617	C	G	39832617	3	3	24	1	0	0	0	0	1	0	0	0	17707	855	30	1	1938	1	ZHX3	20	39832617	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4083297	39832617	23192903	312	3733										
PTPRT	11122	genome.wustl.edu	37	chr20	40727169	40727169	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	agagggtgctgggtgaccacGaaggcggcaggctgcttgtg	19	8	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:40727169G>A	ENST00000373187.1	-	27	3737	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	PTPRT_ENST00000373201.1_Silent_p.F1236F|PTPRT_ENST00000373184.1_Silent_p.F1256F|PTPRT_ENST00000373193.3_Silent_p.F1249F|PTPRT_ENST00000373198.4_Silent_p.F1265F|PTPRT_ENST00000373190.1_Silent_p.F1245F|PTPRT_ENST00000356100.2_Silent_p.F1255F			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1246	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTGACCACGAAGGCGGCAG	0.517																																																	0													67	72	71					20																	40727169		2098	4245	6343	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3738C>T	20.37:g.40727169G>A			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.F1268	ENST00000373187.1	37	c.3804	CCDS42874.1	20																																																																																			PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40727169	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.976	A	A	40727169	G	A	40727169	2	1	24	1	0	0	0	0	0	0	0	1	12842	1049	37	1		1	PTPRT	20	40727169	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	894552	40727169	22298351	313	3734										
C20orf177	63939	genome.wustl.edu	37	chr20	58519380	58519380	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aaattgatccagtttactttGatcttcaccctggtcagggc	8	10	3	2	rs548552912		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:58519380G>A	ENST00000358293.3	+	5	797	c.382G>A	c.(382-384)Gat>Aat	p.D128N	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.D128N	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	128																	AGTTTACTTTGATCTTCACCC	0.458																																																	0													83	83	83					20																	58519380		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.382G>A	20.37:g.58519380G>A	ENSP00000351040:p.Asp128Asn		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.D128N	ENST00000358293.3	37	c.382	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569638	0.65765	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.25579	1.79;1.79	5.66	3.7	0.42460	.	0.477257	0.20146	N	0.098267	T	0.21590	0.0520	L	0.34521	1.04	0.09310	N	1	D	0.53462	0.96	P	0.46110	0.504	T	0.05419	-1.0886	10	0.35671	T	0.21	-3.5062	8.807	0.34943	0.0824:0.1698:0.7479:0.0	.	128	Q9NTX9	CT177_HUMAN	N	128	ENSP00000351040:D128N;ENSP00000354056:D128N	ENSP00000351040:D128N	D	+	1	0	C20orf177	57952775	0.121000	0.22262	0.001000	0.08648	0.690000	0.40134	2.947000	0.49058	0.706000	0.31912	0.655000	0.94253	GAT	FAM217B	-	NULL		0.458	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58519380	1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	0.033	A	A	58519380	G	A	58519380	3	1	24	1	0	0	0	0	1	0	0	0	2101	1290	45	1	384	1	C20orf177	20	58519380	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	17792211	58519380	4506140	314	3735										
ARFGAP1	55738	genome.wustl.edu	37	chr20	61918992	61918992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acatagaccagagcttctggGagacctttggaagtgctgag	13	8	1	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:61918992G>A	ENST00000370283.4	+	13	1128	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ARFGAP1_ENST00000518794.2_3'UTR|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E338K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E264K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E285K|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E217K|ARFGAP1_ENST00000370275.4_3'UTR	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	330					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GAGCTTCTGGGAGACCTTTGG	0.592																																																	0													44	44	44					20																	61918992		2200	4298	6498	SO:0001583	missense	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.988G>A	20.37:g.61918992G>A	ENSP00000359306:p.Glu330Lys		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E338K	ENST00000370283.4	37	c.1012	CCDS13515.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298787	0.81025	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T;T	0.55413	1.33;0.65;0.57;0.67;0.52;1.2	4.95	4.95	0.65309	.	0.165435	0.52532	D	0.000065	T	0.72326	0.3446	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.99;0.998;0.999;0.999	D;D;D;D	0.79784	0.979;0.993;0.937;0.991	T	0.74247	-0.3727	10	0.52906	T	0.07	-15.8507	18.5602	0.91097	0.0:0.0:1.0:0.0	.	217;285;330;338	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	K	330;264;256;86;285;217;338	ENSP00000359306:E330K;ENSP00000449800:E264K;ENSP00000447037:E256K;ENSP00000430500:E285K;ENSP00000443716:E217K;ENSP00000314615:E338K	ENSP00000314615:E338K	E	+	1	0	ARFGAP1	61389437	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	8.247000	0.89830	2.449000	0.82847	0.462000	0.41574	GAG	ARFGAP1	-	NULL		0.592	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	G	NM_018209		61918992	1	no_errors	ENST00000353546	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61918992	G	A	61918992	3	1	24	1	0	0	0	0	1	0	0	0	849	1175	41	1	1068	1	ARFGAP1	20	61918992	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	3399612	61918992	1106528	315	3736										
OPRL1	4987	genome.wustl.edu	37	chr20	62729390	62729390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tagccatctgccaccccatcCgtgccctcgacgtccgcacg	8	20	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr20:62729390C>T	ENST00000349451.3	+	5	881	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	OPRL1_ENST00000355631.4_Missense_Mutation_p.R157C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R157C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	157					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCACCCCATCCGTGCCCTCGA	0.572																																																	0													168	144	152					20																	62729390		2203	4300	6503	SO:0001583	missense	4987				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.469C>T	20.37:g.62729390C>T	ENSP00000336764:p.Arg157Cys		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt	p.R157C	ENST00000349451.3	37	c.469	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838606	0.71373	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.43294	0.95;0.95;0.95	5.05	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.055779	0.64402	D	0.000002	T	0.68128	0.2967	H	0.94582	3.555	0.54753	D	0.999984	D;D	0.76494	0.998;0.999	P;P	0.60609	0.736;0.877	T	0.76761	-0.2840	10	0.87932	D	0	.	11.0074	0.47641	0.3793:0.6207:0.0:0.0	.	152;157	P41146-2;P41146	.;OPRX_HUMAN	C	157	ENSP00000336843:R157C;ENSP00000347848:R157C;ENSP00000336764:R157C	ENSP00000336843:R157C	R	+	1	0	OPRL1	62199834	1.000000	0.71417	0.995000	0.50966	0.591000	0.36615	5.228000	0.65310	2.374000	0.81015	0.551000	0.68910	CGT	OPRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.572	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	C	NM_182647		62729390	1	no_errors	ENST00000336866	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62729390	C	T	62729390	3	4	24	1	0	0	0	0	1	0	0	0	10910	652	23	2	475	2	OPRL1	20	62729390	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	810398	62729390	296130	316	3737										
ADAMTS1	9510	genome.wustl.edu	37	chr21	28210431	28210431	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aacacctttgtacataatgtCttgctctaaggtggacaaag	8	8	2	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr21:28210431C>A	ENST00000284984.3	-	9	2825	c.2371G>T	c.(2371-2373)Gac>Tac	p.D791Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	791	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TACATAATGTCTTGCTCTAAG	0.478																																																	0													79	67	71					21																	28210431		2203	4300	6503	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2371G>T	21.37:g.28210431C>A	ENSP00000284984:p.Asp791Tyr		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.D791Y	ENST00000284984.3	37	c.2371	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531389	0.85706	.	.	ENSG00000154734	ENST00000284984	T	0.62788	-0.0	5.55	5.55	0.83447	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.80481	0.4631	M	0.79258	2.445	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.81163	-0.1058	9	0.66056	D	0.02	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	791	Q9UHI8	ATS1_HUMAN	Y	791	ENSP00000284984:D791Y	ENSP00000284984:D791Y	D	-	1	0	ADAMTS1	27132302	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.320000	0.79064	2.894000	0.99253	0.591000	0.81541	GAC	ADAMTS1	-	pfam_ADAM_spacer1		0.478	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	C			28210431	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28210431	C	A	28210431	3	1	24	1	0	0	0	0	1	0	0	0	255	913	32	3	536	3	ADAMTS1	21	28210431	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		28210431	19919464	317	3738										
BRWD1	54014	genome.wustl.edu	37	chr21	40630548	40630548	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cgattctgggctgcgttcatCattatcattggtttgcaggc	11	9	4	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr21:40630548C>G	ENST00000333229.2	-	18	2263	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	BRWD1_ENST00000380800.3_Missense_Mutation_p.D646H|BRWD1_ENST00000342449.3_Missense_Mutation_p.D646H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	646					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGCGTTCATCATTATCATTG	0.358																																					Melanoma(170;988 1986 4794 16843 39731)												0													135	120	125					21																	40630548		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1936G>C	21.37:g.40630548C>G	ENSP00000330753:p.Asp646His		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.D646H	ENST00000333229.2	37	c.1936	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.497407|2.497407	0.44455|0.44455	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.56444|.	0.46;0.48;0.56|.	5.33|5.33	4.44|4.44	0.53790|0.53790	.|.	0.728893|.	0.13204|.	N|.	0.405738|.	T|.	0.61887|.	0.2383|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.40638|.	0.612;0.375;0.725;0.612|.	B;B;P;B|.	0.49140|.	0.172;0.429;0.601;0.319|.	T|.	0.59484|.	-0.7446|.	10|.	0.59425|.	D|.	0.04|.	-3.4593|-3.4593	13.7406|13.7406	0.62845|0.62845	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	357;357;646;646|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	H|S	646|357	ENSP00000330753:D646H;ENSP00000344333:D646H;ENSP00000370178:D646H|.	ENSP00000330753:D646H|.	D|X	-|-	1|2	0|2	BRWD1|BRWD1	39552418|39552418	0.276000|0.276000	0.24211|0.24211	0.957000|0.957000	0.39632|0.39632	0.444000|0.444000	0.32077|0.32077	2.088000|2.088000	0.41663|0.41663	1.269000|1.269000	0.44280|0.44280	0.561000|0.561000	0.74099|0.74099	GAT|TGA	BRWD1	-	NULL		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40630548	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.928	G	G	40630548	C	G	40630548	3	3	24	1	0	0	0	0	1	0	0	0	1528	826	29	1	5365	1	BRWD1	21	40630548	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	12420117	40630548	7499347	318	3739										
DSCAM	1826	genome.wustl.edu	37	chr21	41684283	41684283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	caaagggttgtatgaaaggcGgaactgcaagaaaaaagaaa	12	4	0	3			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr21:41684283G>A	ENST00000400454.1	-	9	2264	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATGAAAGGCGGAACTGCAAG	0.448																																					Melanoma(134;970 1778 1785 21664 32388)												0													32	30	30					21																	41684283		1868	4107	5975	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1787C>T	21.37:g.41684283G>A	ENSP00000383303:p.Pro596Leu		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P596L	ENST00000400454.1	37	c.1787	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444192	0.63067	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.64803	-0.12;-0.12	5.23	4.34	0.51931	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84483	0.0606	10	0.66056	D	0.02	.	13.3317	0.60490	0.076:0.0:0.924:0.0	.	596	O60469	DSCAM_HUMAN	L	596;348	ENSP00000383303:P596L;ENSP00000385342:P348L	ENSP00000383303:P596L	P	-	2	0	DSCAM	40606153	1.000000	0.71417	0.988000	0.46212	0.572000	0.35998	9.692000	0.98682	1.185000	0.42971	0.563000	0.77884	CCG	DSCAM	-	pfscan_Ig-like		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41684283	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	0.999	A	A	41684283	G	A	41684283	3	1	24	1	0	0	0	0	1	0	0	0	4778	1116	39	2	4351	2	DSCAM	21	41684283	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	1053735	41684283	6445612	319	3740										
DGCR8	54487	genome.wustl.edu	37	chr22	20074120	20074120	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttactgacaatttggagctaGatgaagaaggagcaggcggg	15	5	0	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:20074120G>C	ENST00000351989.3	+	2	1063	c.634G>C	c.(634-636)Gat>Cat	p.D212H	DGCR8_ENST00000407755.1_Missense_Mutation_p.D212H|MIR3618_ENST00000580330.1_RNA|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.D212H	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	212	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTGGAGCTAGATGAAGAAGG	0.473																																																	0													126	138	134					22																	20074120		2203	4300	6503	SO:0001583	missense	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.634G>C	22.37:g.20074120G>C	ENSP00000263209:p.Asp212His		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.D212H	ENST00000351989.3	37	c.634	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531787	0.64972	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.37915	1.21;1.17;1.17	5.42	5.42	0.78866	.	0.147988	0.64402	D	0.000012	T	0.48926	0.1527	L	0.40543	1.245	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.57720	0.826;0.674	T	0.43426	-0.9392	10	0.62326	D	0.03	-18.9382	18.9993	0.92826	0.0:0.0:1.0:0.0	.	212;212	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	H	212	ENSP00000263209:D212H;ENSP00000372488:D212H;ENSP00000384726:D212H	ENSP00000263209:D212H	D	+	1	0	DGCR8	18454120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.954000	0.93051	2.826000	0.97356	0.491000	0.48974	GAT	DGCR8	-	NULL		0.473	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	G			20074120	1	no_errors	ENST00000351989	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20074120	G	C	20074120	3	2	24	1	0	0	0	0	1	0	0	0	4474	942	33	1	636	1	DGCR8	22	20074120	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08		20074120	31230446	320	3741										
SEC14L4	284904	genome.wustl.edu	37	chr22	30890146	30890146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	catgggcttacctcgaataaCaattaaattcttcagggtct	7	9	3	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:30890146C>G	ENST00000255858.7	-	7	654	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	RP4-539M6.14_ENST00000610156.1_RNA|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.V191L|SEC14L4_ENST00000392772.2_Missense_Mutation_p.V137L|SEC14L4_ENST00000540456.1_Missense_Mutation_p.V176L	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	191	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCTCGAATAACAATTAAATTC	0.493																																																	0													97	98	98					22																	30890146		2203	4300	6503	SO:0001583	missense	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.571G>C	22.37:g.30890146C>G	ENSP00000255858:p.Val191Leu		A5D6W7|A6NCV4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.V191L	ENST00000255858.7	37	c.571	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	c	2.867	-0.234921	0.05983	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.22	-3.48	0.04739	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.611538	0.17132	N	0.185790	T	0.21509	0.0518	L	0.39397	1.21	0.39044	D	0.960193	B;B;B	0.32543	0.375;0.36;0.041	B;B;B	0.38106	0.265;0.069;0.079	T	0.05209	-1.0899	10	0.46703	T	0.11	1.132	12.3499	0.55143	0.0:0.5092:0.0:0.4908	.	137;176;191	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	L	191;176;137;191	ENSP00000255858:V191L;ENSP00000440848:V176L;ENSP00000376525:V137L;ENSP00000371412:V191L	ENSP00000255858:V191L	V	-	1	0	SEC14L4	29220146	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	-1.602000	0.02079	-0.769000	0.04620	-1.936000	0.00505	GTT	SEC14L4	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.493	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	C	NM_174977		30890146	-1	no_errors	ENST00000255858	ensembl	human	known	70_37	missense	SNP	0.009	G	G	30890146	C	G	30890146	3	3	24	1	0	0	0	0	1	0	0	0	14014	478	17	4	679	4	SEC14L4	22	30890146	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	10816026	30890146	20414420	321	3742										
MYH9	4627	genome.wustl.edu	37	chr22	36712675	36712675	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cagccagcggaacatccgctCataggtcgccttggccaagg	12	14	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:36712675C>T	ENST00000216181.5	-	12	1497	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	423	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AACATCCGCTCATAGGTCGCC	0.602			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													66	64	64					22																	36712675		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1267G>A	22.37:g.36712675C>T	ENSP00000216181:p.Glu423Lys		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E423K	ENST00000216181.5	37	c.1267	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.263556	0.95399	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.88975	-2.45	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.92412	3.305	0.80722	D	1	B	0.31413	0.322	B	0.20955	0.032	D	0.91823	0.5469	10	0.87932	D	0	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	423	P35579	MYH9_HUMAN	K	287;423	ENSP00000216181:E423K	ENSP00000216181:E423K	E	-	1	0	MYH9	35042621	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.818000	0.86416	2.538000	0.85594	0.585000	0.79938	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36712675	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36712675	C	T	36712675	3	4	24	1	0	0	0	0	1	0	0	0	10065	835	29	1	4735	1	MYH9	22	36712675	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5822529	36712675	14591891	322	3743										
MYH9	4627	genome.wustl.edu	37	chr22	36718516	36718516	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ttcacggtcttggcgttcccGaaggcctccaggatggggtt	14	11	2	0	rs375965637		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:36718516G>A	ENST00000216181.5	-	6	893	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	221	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCGTTCCCGAAGGCCTCCA	0.687			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				G|||	1	0.000199681	0	0	5008	,	,		16167	0.001		0	False		,,,				2504	0							Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								G		1,4405	2.1+/-5.4	0,1,2202	70	59	63		663	-4.5	1	22		63	0,8600		0,0,4300	no	coding-synonymous	MYH9	NM_002473.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		221/1961	36718516	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.663C>T	22.37:g.36718516G>A			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F221	ENST00000216181.5	37	c.663	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.687	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36718516	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	0.915	A	A	36718516	G	A	36718516	2	1	24	1	0	0	0	0	0	0	0	1	10065	1049	37	1		1	MYH9	22	36718516	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	5841	36718516	14586050	323	3744										
TST	7263	genome.wustl.edu	37	chr22	37414596	37414596	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtcccggcactcttctatgtCaaagaaagaggcgccgggta	12	11	3	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:37414596C>G	ENST00000403892.3	-	1	912	c.178G>C	c.(178-180)Gac>Cac	p.D60H	MPST_ENST00000401419.3_5'Flank|MPST_ENST00000429360.2_5'Flank|MPST_ENST00000397129.1_5'Flank|MPST_ENST00000404802.3_5'Flank|MPST_ENST00000404393.1_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.D60H|MPST_ENST00000341116.3_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	60	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTTCTATGTCAAAGAAAGAG	0.667																																																	0													8	7	7					22																	37414596		2164	4251	6415	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.178G>C	22.37:g.37414596C>G	ENSP00000385828:p.Asp60His		B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.D60H	ENST00000403892.3	37	c.178	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460815	0.84317	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912;ENST00000438203	T;T;T	0.27104	1.69;1.69;1.69	4.94	3.7	0.42460	Rhodanese-like (5);	0.045629	0.85682	D	0.000000	T	0.54382	0.1855	M	0.86343	2.81	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.64584	-0.6373	10	0.87932	D	0	-13.6068	14.1576	0.65428	0.0:0.9142:0.0:0.0858	.	60	Q16762	THTR_HUMAN	H	60	ENSP00000385828:D60H;ENSP00000249042:D60H;ENSP00000400764:D60H	ENSP00000249042:D60H	D	-	1	0	TST	35744542	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	4.059000	0.57470	2.284000	0.76573	0.561000	0.74099	GAC	TST	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.667	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1	C			37414596	-1	no_errors	ENST00000249042	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37414596	C	G	37414596	3	3	24	1	0	0	0	0	1	0	0	0	16704	826	29	1	723	1	TST	22	37414596	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	696080	37414596	13889970	324	3745										
ATF4	468	genome.wustl.edu	37	chr22	39918236	39918236	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gtatgagcccagagtcctatCtggggtctcctcagcacagc	11	13	3	2	rs547982920		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:39918236C>G	ENST00000337304.2	+	2	1567	c.685C>G	c.(685-687)Ctg>Gtg	p.L229V	ATF4_ENST00000396680.1_Missense_Mutation_p.L229V|ATF4_ENST00000404241.2_Missense_Mutation_p.L229V	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	229					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AGAGTCCTATCTGGGGTCTCC	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		19009	0		0	False		,,,				2504	0																0													26	25	25					22																	39918236		2202	4300	6502	SO:0001583	missense	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.685C>G	22.37:g.39918236C>G	ENSP00000336790:p.Leu229Val		Q9UH31	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L229V	ENST00000337304.2	37	c.685	CCDS13996.1	22	.	.	.	.	.	.	.	.	.	.	C	0.689	-0.795352	0.02862	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.25579	1.79;1.79;1.79	5.24	-0.337	0.12654	.	0.391828	0.24236	N	0.040302	T	0.19087	0.0458	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24799	-1.0150	10	0.87932	D	0	-11.1708	10.0693	0.42324	0.0:0.4296:0.0:0.5704	.	229	P18848	ATF4_HUMAN	V	229	ENSP00000384587:L229V;ENSP00000336790:L229V;ENSP00000379912:L229V	ENSP00000336790:L229V	L	+	1	2	ATF4	38248182	0.000000	0.05858	0.000000	0.03702	0.499000	0.33736	-0.506000	0.06359	-0.014000	0.14175	-0.448000	0.05591	CTG	ATF4	-	NULL		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39918236	1	no_errors	ENST00000337304	ensembl	human	known	70_37	missense	SNP	0.000	G	G	39918236	C	G	39918236	3	3	24	1	0	0	0	0	1	0	0	0	1083	912	32	1	691	1	ATF4	22	39918236	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	2503640	39918236	11386330	325	3746										
ATP5L2	267020	genome.wustl.edu	37	chr22	43036172	43036172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	aggggtgggaggaaccagctCaaccgtggtgtagtaccaaa	15	8	1	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:43036172C>T	ENST00000505920.1	-	1	435	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000352397.5_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	37					ATP synthesis coupled proton transport (GO:0015986)	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(1)|kidney(1)	2						GGAACCAGCTCAACCGTGGTG	0.498																																																	0													134	103	112					22																	43036172		692	1591	2283	SO:0001583	missense	267020			AF092923	CCDS54534.1	22q13.2	2012-10-12	2010-06-11		ENSG00000249222	ENSG00000249222		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	13213	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F1F0, subunit g", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2"	ATP5K2			Standard	NM_001165877		Approved	dJ222E13.5	uc003bda.1	Q7Z4Y8	OTTHUMG00000150890	ENST00000505920.1:c.109G>A	22.37:g.43036172C>T	ENSP00000421076:p.Glu37Lys			Missense_Mutation	SNP	pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met	p.E37K	ENST00000505920.1	37	c.109	CCDS54534.1	22	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372774	0.42003	.	.	ENSG00000249222	ENST00000505920	.	.	.	2.19	1.15	0.20763	.	.	.	.	.	T	0.61664	0.2365	M	0.67517	2.055	0.80722	D	1	.	.	.	.	.	.	T	0.61123	-0.7126	6	0.62326	D	0.03	.	7.0327	0.24977	0.0:0.8482:0.0:0.1518	.	.	.	.	K	37	.	ENSP00000421076:E37K	E	-	1	0	ATP5L2	41366116	1.000000	0.71417	0.974000	0.42286	0.193000	0.23685	4.607000	0.61133	0.498000	0.27948	0.609000	0.83330	GAG	ATP5L2	-	pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met		0.498	ATP5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5L2	HGNC	protein_coding	OTTHUMT00000320450.2	C	NM_001165877		43036172	-1	no_errors	ENST00000505920	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43036172	C	T	43036172	3	4	24	1	0	0	0	0	1	0	0	0	1162	835	29	1	197	1	ATP5L2	22	43036172	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3117936	43036172	8268394	326	3747										
UPK3A	7380	genome.wustl.edu	37	chr22	45691457	45691457	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acagggacatggggagttctGatggggaaacgactcacgac	15	8	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:45691457G>C	ENST00000216211.4	+	6	753	c.721G>C	c.(721-723)Gat>Cat	p.D241H	UPK3A_ENST00000396082.2_Missense_Mutation_p.D120H	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	241					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGGGAGTTCTGATGGGGAAAC	0.582																																																	0													127	130	129					22																	45691457		2203	4300	6503	SO:0001583	missense	7380			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.721G>C	22.37:g.45691457G>C	ENSP00000216211:p.Asp241His		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	NULL	p.D241H	ENST00000216211.4	37	c.721	CCDS14064.1	22	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203422	0.38905	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.86366	-0.38;-2.11	5.64	5.64	0.86602	.	0.283163	0.33732	N	0.004615	D	0.92854	0.7727	M	0.73962	2.25	0.09310	N	0.999997	D;D	0.89917	0.975;1.0	P;D	0.76575	0.826;0.988	D	0.87153	0.2210	10	0.72032	D	0.01	-9.7449	15.2084	0.73198	0.0:0.0:1.0:0.0	.	120;241	O75631-2;O75631	.;UPK3A_HUMAN	H	241;120	ENSP00000216211:D241H;ENSP00000379391:D120H	ENSP00000216211:D241H	D	+	1	0	UPK3A	44070121	0.939000	0.31865	0.030000	0.17652	0.118000	0.20060	4.233000	0.58651	2.676000	0.91093	0.557000	0.71058	GAT	UPK3A	-	NULL		0.582	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UPK3A	HGNC	protein_coding	OTTHUMT00000322276.1	G	NM_006953		45691457	1	no_errors	ENST00000216211	ensembl	human	known	70_37	missense	SNP	0.117	C	C	45691457	G	C	45691457	3	2	24	1	0	0	0	0	1	0	0	0	17041	1290	45	1	743	1	UPK3A	22	45691457	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2655285	45691457	5613109	327	3748										
NCAPH2	29781	genome.wustl.edu	37	chr22	50960208	50960208	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ccccctgtgtggaggaggctCtgggacagaagcgcaagagg	17	10	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chr22:50960208C>G	ENST00000420993.2	+	12	1161	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	NCAPH2_ENST00000395701.3_Missense_Mutation_p.L347V|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.L347V	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	347					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAGGAGGCTCTGGGACAGAA	0.632																																																	0													66	62	64					22																	50960208		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1039C>G	22.37:g.50960208C>G	ENSP00000410088:p.Leu347Val		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.L347V	ENST00000420993.2	37	c.1039	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.896032	0.00522	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.7	-0.297	0.12820	.	0.837513	0.10393	N	0.680142	T	0.09335	0.0230	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.22211	0.001;0.015;0.066;0.019	B;B;B;B	0.26310	0.001;0.022;0.068;0.038	T	0.36696	-0.9737	9	0.02654	T	1	-2.0822	1.9803	0.03425	0.392:0.3346:0.1283:0.145	.	347;347;325;347	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	V	347	.	ENSP00000299821:L347V	L	+	1	2	NCAPH2	49307074	0.000000	0.05858	0.539000	0.28077	0.435000	0.31806	0.123000	0.15708	0.393000	0.25203	-0.323000	0.08544	CTG	NCAPH2	-	pfam_Condensin_II_H2-like		0.632	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	C	NM_152299		50960208	1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.000	G	G	50960208	C	G	50960208	3	3	24	1	0	0	0	0	1	0	0	0	10234	912	32	1	1124	1	NCAPH2	22	50960208	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	5268751	50960208	344358	328	3749										
SH3KBP1	30011	genome.wustl.edu	37	chrX	19713767	19713767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tcatcctgggaaatgccaagCtcatccgactcccctgacag	8	15	2	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:19713767C>T	ENST00000397821.3	-	5	773	c.483G>A	c.(481-483)gaG>gaA	p.E161E	SH3KBP1_ENST00000379698.4_Silent_p.E124E|SH3KBP1_ENST00000379697.3_Silent_p.E161E	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	161					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AAATGCCAAGCTCATCCGACT	0.557																																																	0													160	132	142					X																	19713767		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.483G>A	X.37:g.19713767C>T			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E161	ENST00000397821.3	37	c.483	CCDS14193.1	X																																																																																			SH3KBP1	-	NULL		0.557	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	C	NM_031892		19713767	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	silent	SNP	0.510	T	T	19713767	C	T	19713767	2	4	24	1	0	0	0	0	0	0	0	1	14285	796	28	4		4	SH3KBP1	23	19713767	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08		19713767	135556793	329	3750										
CXorf21	80231	genome.wustl.edu	37	chrX	30577710	30577710	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	attcttctctctagacacttGaagactgatttggtctacac	6	10	4	4			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:30577710G>A	ENST00000378962.3	-	3	1085	c.763C>T	c.(763-765)Caa>Taa	p.Q255*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	255										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTAGACACTTGAAGACTGATT	0.403																																																	0													99	88	92					X																	30577710		2202	4300	6502	SO:0001587	stop_gained	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.763C>T	X.37:g.30577710G>A	ENSP00000368245:p.Gln255*			Nonsense_Mutation	SNP	NULL	p.Q255*	ENST00000378962.3	37	c.763	CCDS14224.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.303400	0.97458	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	4.21	0.49690	.	0.067962	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.5846	12.7882	0.57518	0.0:0.0:0.7183:0.2817	.	.	.	.	X	255	.	ENSP00000368245:Q255X	Q	-	1	0	CXorf21	30487631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.931000	0.70113	2.351000	0.79841	0.513000	0.50165	CAA	CXorf21	-	NULL		0.403	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf21	HGNC	protein_coding	OTTHUMT00000056164.1	G	NM_025159		30577710	-1	no_errors	ENST00000378962	ensembl	human	known	70_37	nonsense	SNP	0.990	A	A	30577710	G	A	30577710	4	1	24	1	0	0	0	0	0	1	0	0	4106	1299	45	1	146	1	CXorf21	23	30577710	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	10863943	30577710	124692850	330	3751										
FAM47A	158724	genome.wustl.edu	37	chrX	34149541	34149541	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tctgtgggttcgtcagttgtCttctcccggccctcacaagg	11	13	5	0			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:34149541C>T	ENST00000346193.3	-	1	906	c.855G>A	c.(853-855)aaG>aaA	p.K285K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	285										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGTCAGTTGTCTTCTCCCGGC	0.572																																																	0													25	27	26					X																	34149541		2201	4299	6500	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.855G>A	X.37:g.34149541C>T			A8K8I9|Q8TAA0	Silent	SNP	NULL	p.K285	ENST00000346193.3	37	c.855	CCDS43926.1	X																																																																																			FAM47A	-	NULL		0.572	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	C	NM_203408		34149541	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	silent	SNP	0.021	T	T	34149541	C	T	34149541	2	4	24	1	0	0	0	0	0	0	0	1	5587	912	32	1		1	FAM47A	23	34149541	Silent	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	3571831	34149541	121121019	331	3752										
SLC9A7	84679	genome.wustl.edu	37	chrX	46541920	46541920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcagctgagtgatttgtcacGgccactggtagcaggggtac	15	9	1	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:46541920G>A	ENST00000328306.4	-	2	401	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	126					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATTTGTCACGGCCACTGGTA	0.478																																					Pancreas(118;454 1696 1930 13865 39976)												0													66	49	55					X																	46541920		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.376C>T	X.37:g.46541920G>A	ENSP00000330320:p.Arg126Cys		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R126C	ENST00000328306.4	37	c.376	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220636	0.79464	.	.	ENSG00000065923	ENST00000328306	T	0.55930	0.49	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.476626	0.23178	N	0.051044	T	0.47581	0.1453	N	0.08118	0	0.42268	D	0.992048	D	0.54601	0.967	P	0.56788	0.806	T	0.54470	-0.8289	10	0.52906	T	0.07	.	12.6988	0.57020	0.0765:0.0:0.9235:0.0	.	126	Q96T83	SL9A7_HUMAN	C	126	ENSP00000330320:R126C	ENSP00000330320:R126C	R	-	1	0	SLC9A7	46426864	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.368000	0.73104	2.524000	0.85096	0.600000	0.82982	CGT	SLC9A7	-	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6		0.478	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	G	NM_032591		46541920	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46541920	G	A	46541920	3	1	24	1	0	0	0	0	1	0	0	0	14749	1116	39	2	1865	2	SLC9A7	23	46541920	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	12392379	46541920	108728640	332	3753										
BMP15	9210	genome.wustl.edu	37	chrX	50659449	50659449	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	cccccaatcacgccattattCagaaccttatcaatcagttg	4	14	4	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:50659449C>G	ENST00000252677.3	+	2	1021	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	341					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CGCCATTATTCAGAACCTTAT	0.483																																																	0													122	106	111					X																	50659449		2203	4299	6502	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1021C>G	X.37:g.50659449C>G	ENSP00000252677:p.Gln341Glu		Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.Q341E	ENST00000252677.3	37	c.1021	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	c	13.97	2.396536	0.42512	.	.	ENSG00000130385	ENST00000252677	D	0.84442	-1.85	5.58	4.72	0.59763	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	M	0.94063	3.49	0.58432	D	0.999991	D	0.76494	0.999	D	0.91635	0.999	D	0.94144	0.7399	10	0.87932	D	0	.	11.3018	0.49311	0.0:0.9094:0.0:0.0906	.	341	O95972	BMP15_HUMAN	E	341	ENSP00000252677:Q341E	ENSP00000252677:Q341E	Q	+	1	0	BMP15	50676189	1.000000	0.71417	0.995000	0.50966	0.024000	0.10985	5.916000	0.69981	1.130000	0.42092	-0.199000	0.12753	CAG	BMP15	-	pfam_TGF-b_C,smart_TGF-b_C		0.483	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	C	NM_005448		50659449	1	no_errors	ENST00000252677	ensembl	human	known	70_37	missense	SNP	0.999	G	G	50659449	C	G	50659449	3	3	24	1	0	0	0	0	1	0	0	0	1459	827	29	1	1027	1	BMP15	23	50659449	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	4117529	50659449	104611111	333	3754										
KDM5C	8242	genome.wustl.edu	37	chrX	53228335	53228335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gcctctcgctcagcctctgtGataccctaagggcatttaac	8	14	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:53228335G>A	ENST00000375401.3	-	15	2599	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	KDM5C_ENST00000375383.3_Silent_p.I648I|KDM5C_ENST00000404049.3_Silent_p.I688I|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Silent_p.I689I|KDM5C_ENST00000452825.3_Silent_p.I622I	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	689					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGCCTCTGTGATACCCTAAG	0.502			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													118	102	108					X																	53228335		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2067C>T	X.37:g.53228335G>A			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.I689	ENST00000375401.3	37	c.2067	CCDS14351.1	X																																																																																			KDM5C	-	NULL		0.502	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	G	NM_004187		53228335	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53228335	G	A	53228335	2	1	24	1	0	0	0	0	0	0	0	1	8155	1280	45	1		1	KDM5C	23	53228335	Silent	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	2568886	53228335	102042225	334	3755										
HUWE1	10075	genome.wustl.edu	37	chrX	53579331	53579331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	acggctcttctaggattcctCgggaatctgctccagaaatg	10	11	3	1			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:53579331C>T	ENST00000342160.3	-	62	9279	c.8822G>A	c.(8821-8823)cGa>cAa	p.R2941Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2941Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2941					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGGATTCCTCGGGAATCTGC	0.537																																																	0													66	59	61					X																	53579331		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8822G>A	X.37:g.53579331C>T	ENSP00000340648:p.Arg2941Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R2941Q	ENST00000342160.3	37	c.8822	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399046	0.42512	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.33654	1.4;1.4	5.95	5.09	0.68999	.	0.273076	0.33180	N	0.005193	T	0.16471	0.0396	N	0.04508	-0.205	0.28532	N	0.912537	B;B	0.13145	0.007;0.0	B;B	0.06405	0.002;0.0	T	0.14035	-1.0487	10	0.07482	T	0.82	.	13.1829	0.59666	0.0:0.9204:0.0:0.0796	.	2941;2941	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	2941	ENSP00000340648:R2941Q;ENSP00000262854:R2941Q	ENSP00000262854:R2941Q	R	-	2	0	HUWE1	53596056	0.999000	0.42202	0.998000	0.56505	0.984000	0.73092	3.660000	0.54496	1.281000	0.44480	0.529000	0.55759	CGA	HUWE1	-	NULL		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53579331	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	0.994	T	T	53579331	C	T	53579331	3	4	24	1	0	0	0	0	1	0	0	0	7481	884	31	1	4390	1	HUWE1	23	53579331	Missense_Mutation	SNP	C	TCGA-C5-A1MK-01A-11D-A14W-08	350996	53579331	101691229	335	3756										
MTMR8	55613	genome.wustl.edu	37	chrX	63564952	63564952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	gagtttctgcagactgctccGcattacatggatgttctcaa	9	10	2	1	rs200859818		TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:63564952G>A	ENST00000374852.3	-	7	905	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.R280W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	280	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGACTGCTCCGCATTACATGG	0.488													G|||	1	0.000264901	0	0	3775	,	,		15706	0		0	False		,,,				2504	0.001																1	Whole gene deletion(1)	ovary(1)											201	151	168					X																	63564952		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.838C>T	X.37:g.63564952G>A	ENSP00000363985:p.Arg280Trp		Q5JT99|Q9NXP6	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat	p.R280W	ENST00000374852.3	37	c.838	CCDS14379.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.732704|2.732704	0.48939|0.48939	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000453546;ENST00000374852;ENST00000247400	.|D;D	.|0.94457	.|-3.43;-3.43	3.23|3.23	0.221|0.221	0.15283|0.15283	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.43579	.|U	.|0.000542	D|D	0.97816|0.97816	0.9283|0.9283	H|H	0.98446|0.98446	4.235|4.235	0.50467|0.50467	D|D	0.999879|0.999879	.|B;D	.|0.89917	.|0.067;1.0	.|B;D	.|0.97110	.|0.006;1.0	D|D	0.95401|0.95401	0.8490|0.8490	5|10	.|0.87932	.|D	.|0	.|.	7.2183|7.2183	0.25971|0.25971	0.3552:0.0:0.6448:0.0|0.3552:0.0:0.6448:0.0	.|.	.|280;280	.|B4DQL0;Q96EF0	.|.;MTMR8_HUMAN	V|W	83|280;280;166	.|ENSP00000394003:R280W;ENSP00000363985:R280W	.|ENSP00000247400:R166W	A|R	-|-	2|1	0|2	MTMR8|MTMR8	63481677|63481677	0.077000|0.077000	0.21312|0.21312	0.351000|0.351000	0.25721|0.25721	0.767000|0.767000	0.43475|0.43475	-0.180000|-0.180000	0.09754|0.09754	-0.204000|-0.204000	0.10235|0.10235	0.513000|0.513000	0.50165|0.50165	GCG|CGG	MTMR8	-	smart_Tyr_Pase_cat		0.488	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	G	NM_017677		63564952	-1	no_errors	ENST00000374852	ensembl	human	known	70_37	missense	SNP	0.997	A	A	63564952	G	A	63564952	3	1	24	1	0	0	0	0	1	0	0	0	9972	1086	38	2	1308	2	MTMR8	23	63564952	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	9985621	63564952	91705608	336	3757										
DLG3	1741	genome.wustl.edu	37	chrX	69699014	69699014	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	tgacagaatacagtcgctttGaatcgaagatacatgactta	8	7	0	5			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:69699014G>C	ENST00000374360.3	+	10	1653	c.1420G>C	c.(1420-1422)Gaa>Caa	p.E474Q	DLG3_ENST00000374355.3_Missense_Mutation_p.E137Q|DLG3_ENST00000542398.1_5'UTR|DLG3_ENST00000194900.4_Missense_Mutation_p.E492Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	474					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CAGTCGCTTTGAATCGAAGAT	0.473																																																	0													149	133	138					X																	69699014		2203	4300	6503	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1420G>C	X.37:g.69699014G>C	ENSP00000363480:p.Glu474Gln		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E492Q	ENST00000374360.3	37	c.1474	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735812	0.89482	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355	T;T;T	0.18338	2.54;2.52;2.22	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.000000	0.64402	U	0.000001	T	0.43590	0.1254	M	0.82716	2.605	0.80722	D	1	P;D	0.71674	0.905;0.998	P;P	0.62813	0.524;0.907	T	0.42361	-0.9456	9	.	.	.	.	16.3922	0.83543	0.0:0.0:1.0:0.0	.	137;474	Q5JUW6;Q92796	.;DLG3_HUMAN	Q	492;474;137	ENSP00000194900:E492Q;ENSP00000363480:E474Q;ENSP00000363475:E137Q	.	E	+	1	0	DLG3	69615739	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.883000	0.92426	2.439000	0.82584	0.600000	0.82982	GAA	DLG3	-	superfamily_PDZ,pirsf_M-assoc_guanylate_kinase		0.473	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	G	NM_021120		69699014	1	no_errors	ENST00000194900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69699014	G	C	69699014	3	2	24	1	0	0	0	0	1	0	0	0	4566	1291	45	1	1596	1	DLG3	23	69699014	Missense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	6134062	69699014	85571546	337	3758										
CSTF2	1478	genome.wustl.edu	37	chrX	100088222	100088222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.586309523809524	197	1.87577136235886e-72	3.92421228631555	4.90704391676242	3.36826712161833	0.0782831780086539	0.216956236195412	147	ggatggaggcccgagccatgGaggcaagagggttagatgcc	18	8	0	2			TCGA-C5-A1MK-01A-11D-A14W-08	TCGA-C5-A1MK-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d5df1dc1-b3b4-4856-a952-2940fd7dbf00	68a8e30b-8f14-4835-bd71-f46248ff5495	g.chrX:100088222G>T	ENST00000372972.2	+	11	1277	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*	CSTF2_ENST00000415585.2_Nonsense_Mutation_p.E441*	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	421	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCGAGCCATGGAGGCAAGAGG	0.547																																																	0													49	40	43					X																	100088222		2203	4300	6503	SO:0001587	stop_gained	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1261G>T	X.37:g.100088222G>T	ENSP00000362063:p.Glu421*		Q5H951|Q6LA74|Q8N502	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E441*	ENST00000372972.2	37	c.1321	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.082670	0.97267	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	.	.	.	5.25	5.25	0.73442	.	0.279727	0.31797	N	0.007054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-5.3991	13.6912	0.62547	0.0:0.1503:0.8497:0.0	.	.	.	.	X	441;421;397	.	ENSP00000362063:E421X	E	+	1	0	CSTF2	99974878	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.894000	0.69806	2.190000	0.69967	0.506000	0.49869	GAG	CSTF2	-	NULL		0.547	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	G	NM_001325		100088222	1	no_errors	ENST00000415585	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	100088222	G	T	100088222	4	4	24	1	0	0	0	0	0	1	0	0	3989	1175	41	3	1303	3	CSTF2	23	100088222	Nonsense_Mutation	SNP	G	TCGA-C5-A1MK-01A-11D-A14W-08	30389208	100088222	55182338	338	3759										
PTCHD2	57540	genome.wustl.edu	37	chr1	11575526	11575526	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atccagtacttgggcatcctGaatggggtggccgccttcgt	13	11	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:11575526G>C	ENST00000294484.6	+	5	1692	c.1554G>C	c.(1552-1554)ctG>ctC	p.L518L	PTCHD2_ENST00000389575.3_Silent_p.L518L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	518	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGGCATCCTGAATGGGGTGG	0.577																																																	0													158	151	154					1																	11575526		2114	4242	6356	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1554G>C	1.37:g.11575526G>C			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.L518	ENST00000294484.6	37	c.1554	CCDS41247.1	1																																																																																			PTCHD2	-	pfam_Patched,pfam_MMPL-typ,pfscan_SSD		0.577	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	G	XM_052561		11575526	1	no_errors	ENST00000294484	ensembl	human	known	70_37	silent	SNP	1.000	C	C	11575526	G	C	11575526	2	2	25	1	0	0	0	0	0	0	0	1	12760	1277	45	1		1	PTCHD2	1	11575526	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		11575526	237675095	1	3760										
PRAMEF4	400735	genome.wustl.edu	37	chr1	12941851	12941851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atgagtttctgaagattcctCatgtggcccaggtatggggt	13	7	2	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:12941851C>T	ENST00000235349.5	-	3	769	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	233					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATTCCTCATGTGGCCCA	0.493																																																	0													286	344	323					1																	12941851		1455	2557	4012	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.699G>A	1.37:g.12941851C>T	ENSP00000235349:p.Met233Ile		Q5LJB5	Missense_Mutation	SNP	NULL	p.M233I	ENST00000235349.5	37	c.699	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	c	10.96	1.498378	0.26861	.	.	ENSG00000243073	ENST00000235349	T	0.00949	5.51	1.48	0.472	0.16758	.	0.114032	0.64402	D	0.000012	T	0.03871	0.0109	M	0.82517	2.595	0.09310	N	1	D	0.63880	0.993	D	0.73708	0.981	T	0.18366	-1.0339	10	0.54805	T	0.06	.	5.7377	0.18075	0.0:0.6622:0.3378:0.0	.	233	O60810	PRAM4_HUMAN	I	233	ENSP00000235349:M233I	ENSP00000235349:M233I	M	-	3	0	PRAMEF4	12864438	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	0.459000	0.21908	0.160000	0.19432	0.400000	0.26472	ATG	PRAMEF4	-	NULL		0.493	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	C	NM_001009611		12941851	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.004	T	T	12941851	C	T	12941851	3	4	25	1	0	0	0	0	1	0	0	0	12464	826	29	1	745	1	PRAMEF4	1	12941851	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	1366325	12941851	236308770	2	3761										
TMCO2	127391	genome.wustl.edu	37	chr1	40717196	40717196	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cacgaagagggattgctcctCtgagccctactgcagctgct	11	13	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:40717196C>G	ENST00000372766.3	+	2	572	c.479C>G	c.(478-480)tCt>tGt	p.S160C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	160						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GATTGCTCCTCTGAGCCCTAC	0.443																																																	0													71	73	72					1																	40717196		2203	4300	6503	SO:0001583	missense	127391			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.479C>G	1.37:g.40717196C>G	ENSP00000361852:p.Ser160Cys			Missense_Mutation	SNP	NULL	p.S160C	ENST00000372766.3	37	c.479	CCDS30684.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211004	0.58343	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.11	5.11	0.69529	.	0.255156	0.28371	N	0.015585	T	0.60287	0.2257	L	0.29908	0.895	0.33931	D	0.642008	D	0.89917	1.0	D	0.70935	0.971	T	0.70637	-0.4817	9	0.87932	D	0	-11.6336	13.9168	0.63902	0.0:1.0:0.0:0.0	.	160	Q7Z6W1	TMCO2_HUMAN	C	160	.	ENSP00000361852:S160C	S	+	2	0	TMCO2	40489783	0.994000	0.37717	1.000000	0.80357	0.611000	0.37282	3.347000	0.52200	2.663000	0.90544	0.650000	0.86243	TCT	TMCO2	-	NULL		0.443	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO2	HGNC	protein_coding	OTTHUMT00000015769.1	C	NM_001008740		40717196	1	no_errors	ENST00000372766	ensembl	human	known	70_37	missense	SNP	0.996	G	G	40717196	C	G	40717196	3	3	25	1	0	0	0	0	1	0	0	0	16026	913	32	1	485	1	TMCO2	1	40717196	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	27775345	40717196	208533425	3	3762										
WDR78	79819	genome.wustl.edu	37	chr1	67359062	67359062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gatctggatggtaaagaggtCggggagtaacatcagttcca	14	6	2	1	rs146236465		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:67359062C>T	ENST00000371026.3	-	3	435	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	WDR78_ENST00000371022.3_Missense_Mutation_p.R127Q|WDR78_ENST00000371023.3_Missense_Mutation_p.R127Q|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	127					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTAAAGAGGTCGGGGAGTAAC	0.348																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	162	156	158		380,380	3.3	0.9	1	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR78	NM_024763.4,NM_207014.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	127/849,127/546	67359062	1,13005	2203	4300	6503	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.380G>A	1.37:g.67359062C>T	ENSP00000360065:p.Arg127Gln		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R127Q	ENST00000371026.3	37	c.380	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729000	0.30684	0.0	1.16E-4	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.58210	0.35;2.16;1.45	5.17	3.31	0.37934	.	0.355620	0.29355	N	0.012382	T	0.31327	0.0793	L	0.39898	1.24	0.80722	D	1	D;B;B	0.67145	0.996;0.205;0.205	P;B;B	0.51453	0.67;0.02;0.02	T	0.08743	-1.0707	10	0.15952	T	0.53	-9.7157	8.3503	0.32299	0.0:0.8166:0.0:0.1834	.	127;127;127	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	Q	127	ENSP00000360065:R127Q;ENSP00000360062:R127Q;ENSP00000360061:R127Q	ENSP00000360061:R127Q	R	-	2	0	WDR78	67131650	0.258000	0.24033	0.905000	0.35620	0.538000	0.34931	0.337000	0.19841	0.693000	0.31634	0.650000	0.86243	CGA	WDR78	-	NULL		0.348	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	C	NM_024763		67359062	-1	no_errors	ENST00000371026	ensembl	human	known	70_37	missense	SNP	0.910	T	T	67359062	C	T	67359062	3	4	25	1	0	0	0	0	1	0	0	0	17359	884	31	1	2283	1	WDR78	1	67359062	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	26641866	67359062	181891559	4	3763										
KCNA3	3738	genome.wustl.edu	37	chr1	111217341	111217341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gttcaccagcgtgtgggcacCgccgctgctcgctgggcgct	15	15	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:111217341C>T	ENST00000369769.2	-	1	314	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	31					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTGTGGGCACCGCCGCTGCTC	0.771																																																	0													4	5	4					1																	111217341		1211	2592	3803	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.91G>A	1.37:g.111217341C>T	ENSP00000358784:p.Gly31Ser		Q5VWN2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G31S	ENST00000369769.2	37	c.91	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884836	0.33255	.	.	ENSG00000177272	ENST00000369769	D	0.97328	-4.34	2.57	2.57	0.30868	.	903.776000	0.00397	U	0.000048	D	0.86581	0.5967	N	0.14661	0.345	0.25905	N	0.983301	B	0.31837	0.342	B	0.18561	0.022	T	0.83160	-0.0099	10	0.32370	T	0.25	.	9.9763	0.41786	0.0:1.0:0.0:0.0	.	31	P22001	KCNA3_HUMAN	S	31	ENSP00000358784:G31S	ENSP00000358784:G31S	G	-	1	0	KCNA3	111018864	0.001000	0.12720	0.119000	0.21687	0.097000	0.18754	-0.034000	0.12225	1.242000	0.43836	0.462000	0.41574	GGT	KCNA3	-	NULL		0.771	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	C	NM_002232		111217341	-1	no_errors	ENST00000369769	ensembl	human	known	70_37	missense	SNP	0.948	T	T	111217341	C	T	111217341	3	4	25	1	0	0	0	0	1	0	0	0	8024	652	23	2	1640	2	KCNA3	1	111217341	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	43858279	111217341	138033280	5	3764										
VPS72	6944	genome.wustl.edu	37	chr1	151149168	151149168	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gctcggggcccagagccaggGaggggctcaggaggtggcgg	22	10	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:151149168G>T	ENST00000354473.4	-	6	1116	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	TMOD4_ENST00000416280.2_5'Flank|TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	349					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGCCAGGGAGGGGCTCAG	0.572																																					Pancreas(109;1131 2287 3209 24201)												0													72	85	81					1																	151149168		2203	4299	6502	SO:0001819	synonymous_variant	6944			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.1080C>A	1.37:g.151149168G>T			A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	pfam_YL1,pfam_YL1_C	p.L349	ENST00000354473.4	37	c.1047	CCDS59201.1	1																																																																																			VPS72	-	NULL		0.572	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	G	NM_005997		151149168	-1	no_errors	ENST00000368892	ensembl	human	known	70_37	silent	SNP	0.992	T	T	151149168	G	T	151149168	2	4	25	1	0	0	0	0	0	0	0	1	17248	1161	41	3		3	VPS72	1	151149168	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	39931827	151149168	98101453	6	3765										
GON4L	54856	genome.wustl.edu	37	chr1	155753850	155753850	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctcttctgggccatcatcttCcatgttggagaatcccatct	7	13	5	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155753850C>A	ENST00000368331.1	-	14	1867	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.E607*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E607*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.E607*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	607					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCATCATCTTCCATGTTGGAG	0.502																																																	0													161	129	140					1																	155753850		2203	4300	6503	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1819G>T	1.37:g.155753850C>A	ENSP00000357315:p.Glu607*		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E607*	ENST00000368331.1	37	c.1819		1	.	.	.	.	.	.	.	.	.	.	C	40	7.944596	0.98574	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	4.57	0.56435	.	0.119039	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4967	0.87719	0.0:1.0:0.0:0.0	.	.	.	.	X	607;607;607;607;607;86	.	ENSP00000271883:E607X	E	-	1	0	GON4L	154020474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.013000	0.57138	2.534000	0.85438	0.591000	0.81541	GAA	GON4L	-	NULL		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155753850	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	155753850	C	A	155753850	4	1	25	1	0	0	0	0	0	1	0	0	6591	864	30	3	5096	3	GON4L	1	155753850	Nonsense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	4604682	155753850	93496771	7	3766										
GON4L	54856	genome.wustl.edu	37	chr1	155755146	155755146	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtttcaaacagctcttccatCagctcatttacttccttttc	3	13	4	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155755146C>T	ENST00000368331.1	-	13	1815	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L	GON4L_ENST00000437809.1_Silent_p.L589L|GON4L_ENST00000271883.5_Silent_p.L589L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L589L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	589					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCTTCCATCAGCTCATTTA	0.373																																																	0													196	174	182					1																	155755146		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1767G>A	1.37:g.155755146C>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.L589	ENST00000368331.1	37	c.1767		1																																																																																			GON4L	-	NULL		0.373	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155755146	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155755146	C	T	155755146	2	4	25	1	0	0	0	0	0	0	0	1	6591	813	29	1		1	GON4L	1	155755146	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	1296	155755146	93495475	8	3767										
RIT1	6016	genome.wustl.edu	37	chr1	155874261	155874261	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ataaacccttctcctgccctCatatactggtcccgcatggc	6	16	2	0	rs483352822		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155874261C>T	ENST00000368323.3	-	5	474	c.270G>A	c.(268-270)atG>atA	p.M90I	RIT1_ENST00000539040.1_Missense_Mutation_p.M54I|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90			M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433																																																	2	Substitution - Missense(2)	lung(2)											97	81	86					1																	155874261		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.270G>A	1.37:g.155874261C>T	ENSP00000357306:p.Met90Ile		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M90I	ENST00000368323.3	37	c.270	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666051	0.88251	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77739	-0.2475	10	0.54805	T	0.06	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	90	Q92963	RIT1_HUMAN	I	90;54;107	ENSP00000357306:M90I;ENSP00000441950:M54I;ENSP00000357305:M107I	ENSP00000357305:M107I	M	-	3	0	RIT1	154140885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	ATG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.433	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155874261	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155874261	C	T	155874261	3	4	25	1	0	0	0	0	1	0	0	0	13416	826	29	1	397	1	RIT1	1	155874261	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	119115	155874261	93376360	9	3768										
IGFN1	91156	genome.wustl.edu	37	chr1	201176007	201176007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggtggtgggactggcctgggAgaagctggagacagcaatgg	20	6	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:201176007A>G	ENST00000335211.4	+	12	2116	c.1986A>G	c.(1984-1986)ggA>ggG	p.G662G	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGGCCTGGGAGAAGCTGGAG	0.597																																																	0													75	82	80					1																	201176007		692	1591	2283	SO:0001819	synonymous_variant	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1986A>G	1.37:g.201176007A>G			F8WAI1|Q9NT72	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G662	ENST00000335211.4	37	c.1986	CCDS53455.1	1																																																																																			IGFN1	-	NULL		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		A	NM_178275		201176007	1	no_errors	ENST00000335211	ensembl	human	known	70_37	silent	SNP	0.000	G	G	201176007	A	G	201176007	2	3	25	1	0	0	0	0	0	0	0	1	7610	291	11	5		5	IGFN1	1	201176007	Silent	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08	45301746	201176007	48074614	10	3769										
DISP1	84976	genome.wustl.edu	37	chr1	223116341	223116341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aaatggatgcctgcaacttaAtggcacggtcaaatcatcct	8	10	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:223116341A>G	ENST00000284476.6	+	2	340	c.176A>G	c.(175-177)aAt>aGt	p.N59S	DISP1_ENST00000360254.2_Missense_Mutation_p.N59S|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	59					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTGCAACTTAATGGCACGGTC	0.498																																																	0													227	197	207					1																	223116341		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.176A>G	1.37:g.223116341A>G	ENSP00000284476:p.Asn59Ser		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.N59S	ENST00000284476.6	37	c.176	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196496	0.79015	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.94376	0.28;-3.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	M	0.69823	2.125	0.41401	D	0.987674	D	0.67145	0.996	P	0.60415	0.874	D	0.95664	0.8718	10	0.51188	T	0.08	-26.0336	15.8071	0.78524	1.0:0.0:0.0:0.0	.	59	Q96F81	DISP1_HUMAN	S	59	ENSP00000355848:N59S;ENSP00000284476:N59S	ENSP00000284476:N59S	N	+	2	0	DISP1	221182964	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	6.778000	0.75043	2.142000	0.66516	0.528000	0.53228	AAT	DISP1	-	NULL		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	A	NM_032890		223116341	1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	223116341	A	G	223116341	3	3	25	1	0	0	0	0	1	0	0	0	4549	101	4	5	178	5	DISP1	1	223116341	Missense_Mutation	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08	21940334	223116341	26134280	11	3770										
CAD	790	genome.wustl.edu	37	chr2	27465560	27465560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcctgctcacccagtatcgtGtcagcctgcgctacgtggca	11	15	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:27465560G>A	ENST00000403525.1	+	40	6250	c.6106G>A	c.(6106-6108)Gtc>Atc	p.V2036I	CAD_ENST00000264705.4_Missense_Mutation_p.V2099I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTATCGTGTCAGCCTGCG	0.642																																																	0													91	82	85					2																	27465560		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6106G>A	2.37:g.27465560G>A	ENSP00000384510:p.Val2036Ile		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.V2099I	ENST00000403525.1	37	c.6295		2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689129	0.68271	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98987	-5.3;-5.3	5.21	5.21	0.72293	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.059799	0.64402	D	0.000003	D	0.97278	0.9110	N	0.26130	0.795	0.49582	D	0.999801	B;B	0.27286	0.174;0.004	B;B	0.34138	0.176;0.019	D	0.96144	0.9102	10	0.46703	T	0.11	-12.6249	17.3212	0.87236	0.0:0.0:1.0:0.0	.	2036;2099	F8VPD4;P27708	.;PYR1_HUMAN	I	2099;2036	ENSP00000264705:V2099I;ENSP00000384510:V2036I	ENSP00000264705:V2099I	V	+	1	0	CAD	27319064	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.903000	0.69877	2.429000	0.82318	0.462000	0.41574	GTC	CAD	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf		0.642	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27465560	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27465560	G	A	27465560	3	1	25	1	0	0	0	0	1	0	0	0	2570	1377	48	4	6457	4	CAD	2	27465560	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		27465560	215733813	12	3771										
HOXD4	3232	genome.wustl.edu	37	chr2	177017631	177017631	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cccagccagcatttacagccGatggccaaagaccaccacac	7	17	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:177017631G>A	ENST00000468418.3	+	0	1872				HOXD4_ENST00000306324.3_Silent_p.P243P|MIR10B_ENST00000385011.1_RNA			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ATTTACAGCCGATGGCCAAAG	0.582																																																	0													74	83	80					2																	177017631		2203	4300	6503			3233				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.-219G>A	2.37:g.177017631G>A			Q99955|Q9BSC5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.P243	ENST00000468418.3	37	c.729	CCDS2270.1	2																																																																																			HOXD4	-	NULL		0.582	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000334246.4	G			177017631	1	no_errors	ENST00000306324	ensembl	human	known	70_37	silent	SNP	0.269	A	A	177017631	G	A	177017631	1	1	25	1	0	1	0	0	0	0	0	0	7344	1045	37	1		1	HOXD4	2	177017631	De_novo_Start_OutOfFrame	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	149552071	177017631	66181742	13	3772										
ABI2	10152	genome.wustl.edu	37	chr2	204292029	204292029	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tatgaatggagtgactgggcTttttcctgggaattacgttg	13	5	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:204292029T>G	ENST00000422511.2	+	11	1428	c.1397T>G	c.(1396-1398)cTt>cGt	p.L466R	ABI2_ENST00000430418.1_Missense_Mutation_p.L444R|ABI2_ENST00000424558.1_Missense_Mutation_p.L493R|ABI2_ENST00000261016.6_Missense_Mutation_p.L387R|ABI2_ENST00000261018.7_Missense_Mutation_p.L285R|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_Missense_Mutation_p.L499R|ABI2_ENST00000261017.5_Missense_Mutation_p.L461R			Q9NYB9	ABI2_HUMAN	abl-interactor 2	499	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTGACTGGGCTTTTTCCTGGG	0.438																																																	0													212	172	186					2																	204292029		2203	4300	6503	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1397T>G	2.37:g.204292029T>G	ENSP00000396249:p.Leu466Arg		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.L499R	ENST00000422511.2	37	c.1496		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.68|19.68	3.871968|3.871968	0.72180|0.72180	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000454023|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000422511;ENST00000261018	.|T;T;T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36;1.36;1.36	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Src homology-3 domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68284|0.68284	0.2984|0.2984	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;0.994;0.997;0.999;0.985;0.997;0.999	.|D;D;D;D;D;D;P;D;D	.|0.97110	.|1.0;0.998;0.993;0.989;0.994;0.998;0.884;0.996;0.987	T|T	0.75513|0.75513	-0.3291|-0.3291	5|10	.|0.87932	.|D	.|0	-12.5939|-12.5939	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|312;363;224;376;493;444;387;499;461	.|B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;.;.;.;ABI2_HUMAN;.	V|R	279|499;461;444;493;387;466;285	.|ENSP00000295851:L499R;ENSP00000261017:L461R;ENSP00000408898:L444R;ENSP00000391433:L493R;ENSP00000261016:L387R;ENSP00000396249:L466R;ENSP00000261018:L285R	.|ENSP00000261016:L387R	F|L	+|+	1|2	0|0	ABI2|ABI2	204000274|204000274	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.358000|0.358000	0.29455|0.29455	7.991000|7.991000	0.88244|0.88244	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|CTT	ABI2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.438	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	T	NM_005759		204292029	1	no_errors	ENST00000295851	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204292029	T	G	204292029	3	3	25	1	0	0	0	0	1	0	0	0	89	1609	56	5	1420	5	ABI2	2	204292029	Missense_Mutation	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08	27274398	204292029	38907344	14	3773										
SEPT2	4735	genome.wustl.edu	37	chr2	242265494	242265495	+	Frame_Shift_Ins	INS	-	-	A													0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aagttcaccgaaaatcagtgINSaaaaaaggttttgagttcac							TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:242265494_242265495insA	ENST00000391973.2	+	3	624_625	c.96_97insA	c.(97-99)aaafs	p.K33fs	SEPT2_ENST00000391971.2_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000401990.1_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000407971.1_5'UTR|SEPT2_ENST00000402092.2_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000360051.3_Frame_Shift_Ins_p.K33fs	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	33					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAAAATCAGTGAAAAAAGGTTT	0.366																																																	0																																										SO:0001589	frameshift_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.102dupA	2.37:g.242265500_242265500dupA	ENSP00000375834:p.Lys33fs		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Frame_Shift_Ins	INS	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2	p.G34fs	ENST00000391973.2	37	c.96_97	CCDS2548.1	2																																																																																			SEPT2	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.366	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	NM_006155		242265495	1	no_errors	ENST00000360051	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	A	A	242265495	-	A	242265494	7	5	25	1	0	1	1	0	0	0	0	0	14094	1277	45	0	102	0	SEPT2	2	242265494	Frame_Shift_Ins	INS	-	TCGA-C5-A1ML-01A-11D-A14W-08	37973465	242265494	933879	15	3774										
ATRIP	84126	genome.wustl.edu	37	chr3	48506424	48506424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtcctgcatcagtttgaccaGgtgatgccgggggtcagcat	14	10	2	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:48506424G>T	ENST00000320211.3	+	12	2363	c.2250G>T	c.(2248-2250)caG>caT	p.Q750H	TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.Q723H|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000433541.1_5'Flank|ATRIP_ENST00000357105.6_Missense_Mutation_p.Q623H|ATRIP_ENST00000412052.1_Missense_Mutation_p.Q657H|TREX1_ENST00000436480.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	750					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTTTGACCAGGTGATGCCGG	0.612								Other conserved DNA damage response genes																																									0													124	117	119					3																	48506424		2203	4300	6503	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2250G>T	3.37:g.48506424G>T	ENSP00000323099:p.Gln750His		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.Q750H	ENST00000320211.3	37	c.2250	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516394	0.64634	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.51071	1.29;1.34;0.72;1.29	5.51	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.72894	2.215	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.63808	-0.6553	10	0.54805	T	0.06	-14.6507	10.1015	0.42509	0.153:0.0:0.847:0.0	.	723;750	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	H	750;723;623;657	ENSP00000323099:Q750H;ENSP00000302338:Q723H;ENSP00000349620:Q623H;ENSP00000400930:Q657H	ENSP00000323099:Q750H	Q	+	3	2	ATRIP	48481428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.370000	0.34238	0.693000	0.31634	0.655000	0.94253	CAG	ATRIP	-	NULL		0.612	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	G	NM_130384		48506424	1	no_errors	ENST00000320211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48506424	G	T	48506424	3	4	25	1	0	0	0	0	1	0	0	0	1206	991	35	4	2296	4	ATRIP	3	48506424	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		48506424	149516006	16	3775										
FRMD4B	23150	genome.wustl.edu	37	chr3	69336920	69336920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	taccttgtgcacacaggcctTtgcattcaggaaaaacagct	8	11	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:69336920T>C	ENST00000398540.3	-	5	567	c.484A>G	c.(484-486)Aag>Gag	p.K162E	FRMD4B_ENST00000542259.1_Missense_Mutation_p.K108E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ACACAGGCCTTTGCATTCAGG	0.458																																																	0													79	82	81					3																	69336920		1903	4123	6026	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.484A>G	3.37:g.69336920T>C	ENSP00000381549:p.Lys162Glu		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.K162E	ENST00000398540.3	37	c.484	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689330	0.48097	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880;ENST00000473029;ENST00000460709;ENST00000459638	T;T;T;T;T;D	0.87887	0.94;-1.47;0.94;0.94;0.94;-2.31	5.76	4.6	0.57074	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.103408	0.64402	N	0.000005	D	0.93318	0.7870	M	0.87758	2.905	0.42017	D	0.990962	D;D	0.71674	0.996;0.998	D;D	0.74348	0.93;0.983	D	0.93553	0.6888	10	0.87932	D	0	-23.5433	10.8584	0.46812	0.0:0.075:0.0:0.925	.	267;162	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	E	162;108;53;108;108;108	ENSP00000381549:K162E;ENSP00000437658:K108E;ENSP00000418962:K53E;ENSP00000418373:K108E;ENSP00000418023:K108E;ENSP00000417550:K108E	ENSP00000381549:K162E	K	-	1	0	FRMD4B	69419610	1.000000	0.71417	0.880000	0.34516	0.136000	0.21042	6.360000	0.73064	1.017000	0.39495	-0.256000	0.11100	AAG	FRMD4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.458	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	T			69336920	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	0.992	C	C	69336920	T	C	69336920	3	2	25	1	0	0	0	0	1	0	0	0	6070	1850	64	5	2696	5	FRMD4B	3	69336920	Missense_Mutation	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08	20830496	69336920	128685510	17	3776										
CASR	846	genome.wustl.edu	37	chr3	122003151	122003151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tcggctacacctgcctgctgGctgccatctgcttcttcttt	8	15	3	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:122003151G>T	ENST00000490131.1	+	7	2722	c.2350G>T	c.(2350-2352)Gct>Tct	p.A784S	CASR_ENST00000498619.1_Missense_Mutation_p.A794S|CASR_ENST00000296154.5_Missense_Mutation_p.A784S|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	784					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCCTGCTGGCTGCCATCTG	0.552																																																	0													41	40	40					3																	122003151		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2350G>T	3.37:g.122003151G>T	ENSP00000418685:p.Ala784Ser		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.A794S	ENST00000490131.1	37	c.2380	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547485	0.86022	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89196	-2.48;-2.48;-2.48	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.92189	0.5758	10	0.49607	T	0.09	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	794;784	E7ENE0;P41180	.;CASR_HUMAN	S	784;794;784	ENSP00000418685:A784S;ENSP00000420194:A794S;ENSP00000296154:A784S	ENSP00000296154:A784S	A	+	1	0	CASR	123485841	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.864000	0.99589	2.802000	0.96397	0.561000	0.74099	GCT	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.552	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		122003151	1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122003151	G	T	122003151	3	4	25	1	0	0	0	0	1	0	0	0	2687	1203	42	4	2402	4	CASR	3	122003151	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	52666231	122003151	76019279	18	3777										
PLSCR4	57088	genome.wustl.edu	37	chr3	145913067	145913067	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gatatgccatcaagggatttGacctggaatgacaagaatgt	11	6	1	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:145913067G>C	ENST00000354952.2	-	8	1029	c.789C>G	c.(787-789)gtC>gtG	p.V263V	PLSCR4_ENST00000433593.2_Silent_p.V158V|PLSCR4_ENST00000446574.2_Silent_p.V263V|PLSCR4_ENST00000493382.1_Silent_p.V263V|PLSCR4_ENST00000383083.2_Silent_p.V173V	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	263					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAAGGGATTTGACCTGGAATG	0.383																																																	0													141	122	128					3																	145913067		2203	4300	6503	SO:0001819	synonymous_variant	57088			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.789C>G	3.37:g.145913067G>C			A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Silent	SNP	pfam_Scramblase	p.V263	ENST00000354952.2	37	c.789	CCDS3133.1	3																																																																																			PLSCR4	-	pfam_Scramblase		0.383	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLSCR4	HGNC	protein_coding	OTTHUMT00000355172.1	G	NM_020353		145913067	-1	no_errors	ENST00000354952	ensembl	human	known	70_37	silent	SNP	0.020	C	C	145913067	G	C	145913067	2	2	25	1	0	0	0	0	0	0	0	1	12136	1277	45	1		1	PLSCR4	3	145913067	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	23909916	145913067	52109363	19	3778										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	25	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	33023024	178936091	19086339	20	3779										
ZNF595	152687	genome.wustl.edu	37	chr4	85996	85997	+	3'UTR	INS	-	-	C													0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgctggagagaaaccctacaINSatgtgaaaaatgtggcaaag							TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:85996_85997insC	ENST00000339368.6	+	0	805_806							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAAACCCTACAATGTGAAAAAT	0.406																																																	0										3582,324		1641,300,12						-0.1	0.1		dbSNP_129	12	7311,695		3331,649,23	no	frameshift	ZNF595	NM_182524.2		4972,949,35	A1A1,A1R,RR		8.681,8.2949,8.5544				10893,1019				SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*803->C	4.37:g.85996_85997insC				RNA	INS	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.406	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	-	NM_182524		85997	1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	INS	0.001:0.009	C	C	85997	-	C	85996	6	5	25	0	1	1	1	0	0	0	0	0	18055	130	5	0		0	ZNF595	4	85996	3'UTR	INS	-	TCGA-C5-A1ML-01A-11D-A14W-08		85996	191068280	21	3780										
CRMP1	1400	genome.wustl.edu	37	chr4	5844878	5844878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgatgcccatctccaggatcCgcttttgttcctacaagaca	7	13	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:5844878C>A	ENST00000397890.2	-	7	846	c.632G>T	c.(631-633)cGg>cTg	p.R211L	CRMP1_ENST00000324989.7_Missense_Mutation_p.R325L|CRMP1_ENST00000512574.1_Missense_Mutation_p.R209L|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	211					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTCCAGGATCCGCTTTTGTTC	0.552																																																	0													147	125	132					4																	5844878		2203	4300	6503	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.632G>T	4.37:g.5844878C>A	ENSP00000380987:p.Arg211Leu		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R325L	ENST00000397890.2	37	c.974	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667231	0.47677	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90504	-2.68;-2.68;-2.68	4.13	4.13	0.48395	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.071421	0.56097	D	0.000029	D	0.93569	0.7947	M	0.85462	2.755	0.47584	D	0.999461	P;B;B;P	0.46220	0.743;0.215;0.05;0.874	B;B;B;P	0.50192	0.406;0.058;0.039;0.634	D	0.94939	0.8089	10	0.87932	D	0	-19.9939	15.9234	0.79592	0.0:1.0:0.0:0.0	.	325;209;211;148	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	325;211;211;209	ENSP00000321606:R325L;ENSP00000380987:R211L;ENSP00000425742:R209L	ENSP00000321606:R325L	R	-	2	0	CRMP1	5895779	0.203000	0.23435	1.000000	0.80357	0.560000	0.35617	2.800000	0.47900	2.301000	0.77427	0.591000	0.81541	CGG	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	C	NM_001313		5844878	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5844878	C	A	5844878	3	1	25	1	0	0	0	0	1	0	0	0	3895	652	23	2	1118	2	CRMP1	4	5844878	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	5758882	5844878	185309398	22	3781										
ABLIM2	84448	genome.wustl.edu	37	chr4	8108346	8108346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	acttctccagcgggctgggaGcagcctggggctgcgacact	15	13	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:8108346G>T	ENST00000341937.5	-	2	93	c.29C>A	c.(28-30)gCt>gAt	p.A10D	ABLIM2_ENST00000545242.1_Missense_Mutation_p.A10D|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A10D|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A10D|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A10D|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A10D|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A10D|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A10D|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A10D|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A10D	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	10					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CGGGCTGGGAGCAGCCTGGGG	0.607																																																	0													30	34	33					4																	8108346		2131	4244	6375	SO:0001583	missense	84448			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.29C>A	4.37:g.8108346G>T	ENSP00000342813:p.Ala10Asp		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.A10D	ENST00000341937.5	37	c.29	CCDS47013.1	4	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074647	0.20227	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.33216	1.57;1.85;1.77;1.57;1.77;1.84;1.77;1.51;1.58;1.42	4.68	1.94	0.25998	.	0.150127	0.43110	D	0.000603	T	0.33089	0.0851	L	0.44542	1.39	0.09310	N	0.999998	D;D;B;B;D;B;D;B	0.63046	0.971;0.971;0.303;0.228;0.992;0.161;0.985;0.303	P;P;B;B;P;B;P;B	0.59221	0.513;0.854;0.32;0.322;0.707;0.12;0.728;0.171	T	0.16276	-1.0408	10	0.12430	T	0.62	.	7.1164	0.25418	0.4546:0.0:0.5454:0.0	.	15;10;10;10;10;10;10;10	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	D	10	ENSP00000354887:A10D;ENSP00000296372:A10D;ENSP00000441255:A10D;ENSP00000444365:A10D;ENSP00000393511:A10D;ENSP00000342813:A10D;ENSP00000355003:A10D;ENSP00000384658:A10D;ENSP00000421283:A10D;ENSP00000389410:A10D	ENSP00000296372:A10D	A	-	2	0	ABLIM2	8159246	0.000000	0.05858	0.008000	0.14137	0.524000	0.34500	0.224000	0.17738	0.513000	0.28278	0.462000	0.41574	GCT	ABLIM2	-	NULL		0.607	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	HGNC	protein_coding	OTTHUMT00000358862.2	G	NM_001130083		8108346	-1	no_errors	ENST00000447017	ensembl	human	known	70_37	missense	SNP	0.000	T	T	8108346	G	T	8108346	3	4	25	1	0	0	0	0	1	0	0	0	95	971	34	4	2042	4	ABLIM2	4	8108346	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	2263468	8108346	183045930	23	3782										
HERC3	8916	genome.wustl.edu	37	chr4	89628057	89628057	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tacagcagcaaagagattctGagtgcccggctgacccaggc	12	12	1	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:89628057G>T	ENST00000402738.1	+	26	3338	c.3099G>T	c.(3097-3099)ctG>ctT	p.L1033L	HERC3_ENST00000543130.1_Silent_p.L477L|HERC3_ENST00000264345.3_Silent_p.L1033L|FAM13A-AS1_ENST00000500765.1_RNA	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1033	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AAGAGATTCTGAGTGCCCGGC	0.547											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87	84	85					4																	89628057		2203	4300	6503	SO:0001819	synonymous_variant	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.3099G>T	4.37:g.89628057G>T		1268	A8K1S5|Q8IXX3	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L1033	ENST00000402738.1	37	c.3099	CCDS34028.1	4																																																																																			HERC3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.547	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2	G	NM_014606		89628057	1	no_errors	ENST00000264345	ensembl	human	known	70_37	silent	SNP	0.991	T	T	89628057	G	T	89628057	2	4	25	1	0	0	0	0	0	0	0	1	7079	1277	45	3		3	HERC3	4	89628057	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	81519711	89628057	101526219	24	3783										
ELMOD2	255520	genome.wustl.edu	37	chr4	141446613	141446614	+	Missense_Mutation	DNP	GG	GG	TT													0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctttgtgggagttcttctatGggcacttttttcgattttgg							TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:141446613_141446614GG>TT	ENST00000323570.3	+	2	163_164	c.31_32GG>TT	c.(31-33)GGg>TTg	p.G11L	ELMOD2_ENST00000511887.2_Missense_Mutation_p.G11L	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	11					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GTTCTTCTATGGGCACTTTTTT	0.351																																																	0																																										SO:0001583	missense	255520			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"ELMO domain containing 2"			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	Exception_encountered	4.37:g.141446613_141446614delinsTT	ENSP00000326342:p.Gly11Leu		B2R712|D3DNZ0	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.G11W|p.G11V	ENST00000323570.3	37	c.31|c.32	CCDS3752.1	4																																																																																			ELMOD2	-	NULL		0.351	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	HGNC	protein_coding	OTTHUMT00000257277.2	G	NM_153702		141446613|141446614	1	no_errors	ENST00000323570	ensembl	human	known	70_37	missense	SNP	1.000|0.999	T	TT	141446614	GG	TT	141446613	3	4	25	1	0	0	0	0	1	0	0	0	5081	1348	47	4	33	4	ELMOD2	4	141446613	Missense_Mutation	DNP	GG	TCGA-C5-A1ML-01A-11D-A14W-08	51818556	141446613	49707663	25	3784										
FBXW7	55294	genome.wustl.edu	37	chr4	153244185	153244185	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctccaatgtgactaggtttcGaataaattcacccgttttca	6	10	2	1	rs144247898		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:153244185G>T	ENST00000281708.4	-	12	3201	c.1972C>A	c.(1972-1974)Cga>Aga	p.R658R	FBXW7_ENST00000393956.3_Silent_p.R482R|FBXW7_ENST00000296555.5_Silent_p.R540R|FBXW7_ENST00000263981.5_Silent_p.R578R|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Silent_p.R658R|FBXW7_ENST00000603841.1_Silent_p.R658R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	6	Substitution - Nonsense(5)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											167	164	165					4																	153244185		2203	4300	6503	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>A	4.37:g.153244185G>T			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R658	ENST00000281708.4	37	c.1972	CCDS3777.1	4																																																																																			FBXW7	-	smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153244185	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153244185	G	T	153244185	2	4	25	1	0	0	0	0	0	0	0	1	5787	1066	37	3		3	FBXW7	4	153244185	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	11797572	153244185	37910091	26	3785										
HPGD	3248	genome.wustl.edu	37	chr4	175414330	175414330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tccatagtatttaatcatatCcttgatatgatccttatatt	3	7	1	2	rs148874494	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:175414330C>A	ENST00000296522.6	-	6	1080	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Missense_Mutation_p.D91Y|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Missense_Mutation_p.D91Y|HPGD_ENST00000422112.2_Missense_Mutation_p.D144Y	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	212					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		TTAATCATATCCTTGATATGA	0.294																																																	0													70	68	69					4																	175414330		2203	4299	6502	SO:0001583	missense	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.634G>T	4.37:g.175414330C>A	ENSP00000296522:p.Asp212Tyr		B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.D212Y	ENST00000296522.6	37	c.634	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264272	0.39995	.	.	ENSG00000164120	ENST00000296522;ENST00000510901;ENST00000422112;ENST00000541923;ENST00000506910;ENST00000514584	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.73	4.86	0.63082	NAD(P)-binding domain (1);	0.691431	0.15430	N	0.262794	T	0.78742	0.4331	M	0.75884	2.315	0.80722	D	1	P;B;B	0.34837	0.472;0.036;0.108	B;B;B	0.30943	0.122;0.055;0.055	T	0.77988	-0.2380	10	0.56958	D	0.05	.	11.1903	0.48681	0.0:0.8424:0.0:0.1576	.	144;212;91	E7EV11;P15428;B4DU74	.;PGDH_HUMAN;.	Y	212;91;144;91;91;91	ENSP00000296522:D212Y;ENSP00000422418:D91Y;ENSP00000398720:D144Y;ENSP00000438017:D91Y;ENSP00000423066:D91Y;ENSP00000423110:D91Y	ENSP00000296522:D212Y	D	-	1	0	HPGD	175650905	0.991000	0.36638	0.990000	0.47175	0.895000	0.52256	1.619000	0.36965	1.354000	0.45846	0.655000	0.94253	GAT	HPGD	-	NULL		0.294	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175414330	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	missense	SNP	1.000	A	A	175414330	C	A	175414330	3	1	25	1	0	0	0	0	1	0	0	0	7354	855	30	3	174	3	HPGD	4	175414330	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	22170145	175414330	15739946	27	3786										
HPGD	3248	genome.wustl.edu	37	chr4	175414436	175414436	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggacaaatggcattcagtctCacaccactgttcataagatt	7	10	3	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Silent_p.V55V|HPGD_ENST00000422112.2_Silent_p.V108V	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CATTCAGTCTCACACCACTGT	0.363																																																	0													104	99	101					4																	175414436		2203	4299	6502	SO:0001819	synonymous_variant	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.528G>A	4.37:g.175414436C>T			B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.V176	ENST00000296522.6	37	c.528	CCDS3821.1	4																																																																																			HPGD	-	prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH		0.363	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175414436	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	silent	SNP	0.997	T	T	175414436	C	T	175414436	2	4	25	1	0	0	0	0	0	0	0	1	7354	813	29	1		1	HPGD	4	175414436	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	106	175414436	15739840	28	3787										
TMEM174	134288	genome.wustl.edu	37	chr5	72469967	72469967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cttctctcctcccccttatgAagaaatatactctctccctc	2	17	2	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:72469967A>G	ENST00000296776.5	+	2	756	c.707A>G	c.(706-708)gAa>gGa	p.E236G	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	236						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCCCCTTATGAAGAAATATAC	0.483																																																	0													102	102	102					5																	72469967		2203	4300	6503	SO:0001583	missense	134288			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.707A>G	5.37:g.72469967A>G	ENSP00000296776:p.Glu236Gly		B2RDA0|Q96N81	Missense_Mutation	SNP	NULL	p.E236G	ENST00000296776.5	37	c.707	CCDS4018.1	5	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755197	0.49362	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.24	5.24	0.73138	.	0.052784	0.64402	D	0.000001	T	0.77123	0.4084	M	0.69823	2.125	0.45690	D	0.998606	D	0.89917	1.0	D	0.87578	0.998	T	0.79633	-0.1722	9	0.72032	D	0.01	-20.3954	13.0137	0.58745	1.0:0.0:0.0:0.0	.	236	Q8WUU8	TM174_HUMAN	G	236	.	ENSP00000296776:E236G	E	+	2	0	TMEM174	72505723	1.000000	0.71417	0.987000	0.45799	0.057000	0.15508	5.015000	0.64035	2.202000	0.70862	0.533000	0.62120	GAA	TMEM174	-	NULL		0.483	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM174	HGNC	protein_coding	OTTHUMT00000254036.1	A	NM_153217		72469967	1	no_errors	ENST00000296776	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72469967	A	G	72469967	3	3	25	1	0	0	0	0	1	0	0	0	16120	246	9	5	713	5	TMEM174	5	72469967	Missense_Mutation	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08		72469967	108445293	29	3788										
HSD17B4	3295	genome.wustl.edu	37	chr5	118844859	118844859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	attcttattctgagaaggaaCttatatgccacaatcagttc	6	8	3	1	rs372898042		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:118844859C>T	ENST00000256216.6	+	16	1490	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	HSD17B4_ENST00000513628.1_Missense_Mutation_p.L316F|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.L191F|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L313F|HSD17B4_ENST00000504811.1_Missense_Mutation_p.L478F|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L435F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L429F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	453	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGAGAAGGAACTTATATGCCA	0.363																																					Colon(35;490 801 34689 41394 43344)												0								C	PHE/LEU,PHE/LEU,PHE/LEU	1,4403	2.1+/-5.4	0,1,2201	137	138	138		1357,1432,1303	4.6	0.9	5		138	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	22,22,22	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	453/737,478/762,435/719	118844859	4,13000	2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1357C>T	5.37:g.118844859C>T	ENSP00000256216:p.Leu453Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L453F	ENST00000256216.6	37	c.1357	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199175	0.38806	2.27E-4	3.49E-4	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.53	4.64	0.57946	.	0.125064	0.56097	D	0.000032	D	0.93530	0.7935	M	0.91663	3.23	0.54753	D	0.999982	D;D;D;B;D	0.76494	0.999;0.994;0.994;0.369;0.996	D;D;D;B;D	0.71184	0.966;0.972;0.961;0.205;0.965	D	0.94493	0.7703	10	0.56958	D	0.05	-22.8541	15.7957	0.78409	0.0:0.8632:0.1368:0.0	.	478;435;429;191;453	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	F	453;435;429;478;313;316;191	ENSP00000256216:L453F;ENSP00000424613:L435F;ENSP00000424940:L429F;ENSP00000420914:L478F;ENSP00000411960:L313F;ENSP00000425993:L316F;ENSP00000426272:L191F	ENSP00000256216:L453F	L	+	1	0	HSD17B4	118872758	1.000000	0.71417	0.865000	0.33974	0.616000	0.37450	6.554000	0.73923	1.278000	0.44430	0.561000	0.74099	CTT	HSD17B4	-	NULL		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118844859	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.996	T	T	118844859	C	T	118844859	3	4	25	1	0	0	0	0	1	0	0	0	7406	565	20	4	1419	4	HSD17B4	5	118844859	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	46374892	118844859	62070401	30	3789										
PCDHAC1	56135	genome.wustl.edu	37	chr5	140308267	140308267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggttctaatgcctggctttCctaccacatctcccgggcgt	9	14	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:140308267C>T	ENST00000253807.2	+	1	1790	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S597F|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTTTCCTACCACATC	0.512																																																	0													93	95	94					5																	140308267		2203	4300	6503	SO:0001583	missense	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1790C>T	5.37:g.140308267C>T	ENSP00000253807:p.Ser597Phe		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S597F	ENST00000253807.2	37	c.1790	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576691	0.28092	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52057	0.68;0.68	5.95	5.08	0.68730	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63757	0.2538	M	0.73372	2.23	0.28937	N	0.891208	B;P	0.50156	0.076;0.932	B;P	0.58130	0.133;0.833	T	0.60984	-0.7154	9	0.34782	T	0.22	.	15.3486	0.74363	0.0:0.933:0.0:0.067	.	597;597	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	597	ENSP00000386356:S597F;ENSP00000253807:S597F	ENSP00000253807:S597F	S	+	2	0	PCDHAC1	140288451	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.337000	0.43947	1.519000	0.48950	0.563000	0.77884	TCC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	C	NM_018898		140308267	1	no_errors	ENST00000253807	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140308267	C	T	140308267	3	4	25	1	0	0	0	0	1	0	0	0	11556	855	30	1	1792	1	PCDHAC1	5	140308267	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	21463408	140308267	40606993	31	3790										
ATP10B	23120	genome.wustl.edu	37	chr5	160071195	160071195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cggtgtttctgatggtgcagCctcgaagcagaagactctca	12	10	2	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:160071195C>A	ENST00000327245.5	-	9	1664	c.818G>T	c.(817-819)gGc>gTc	p.G273V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	273					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAGCCTCGAAGCAG	0.498																																																	0													120	123	122					5																	160071195		2013	4187	6200	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.818G>T	5.37:g.160071195C>A	ENSP00000313600:p.Gly273Val		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G273V	ENST00000327245.5	37	c.818	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671496	0.88348	.	.	ENSG00000118322	ENST00000327245	D	0.94758	-3.51	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.99545	4.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.996;0.997;1.0	D	0.99751	1.1018	9	.	.	.	.	17.0785	0.86592	0.0:1.0:0.0:0.0	.	317;273;245;273	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	V	273	ENSP00000313600:G273V	.	G	-	2	0	ATP10B	160003773	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.203000	0.77864	2.256000	0.74724	0.563000	0.77884	GGC	ATP10B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160071195	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160071195	C	A	160071195	3	1	25	1	0	0	0	0	1	0	0	0	1118	739	26	4	3639	4	ATP10B	5	160071195	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	19762928	160071195	20844065	32	3791										
FLT4	2324	genome.wustl.edu	37	chr5	180056292	180056292	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctcggtgctctcccgaaatcGctggatgccgttgttggcct	12	13	1	0	rs146006663		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:180056292G>A	ENST00000261937.6	-	7	1030	c.952C>T	c.(952-954)Cga>Tga	p.R318*	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R318*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R318*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	318	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCGAAATCGCTGGATGCCG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0													177	154	162					5																	180056292		2202	4299	6501	SO:0001587	stop_gained	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.952C>T	5.37:g.180056292G>A	ENSP00000261937:p.Arg318*		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R318*	ENST00000261937.6	37	c.952	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087548	0.55968	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	-0.892	0.10570	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	16.331	0.83014	0.0:0.0:0.289:0.711	.	.	.	.	X	318;318;318;128	.	ENSP00000261937:R318X	R	-	1	2	FLT4	179988898	0.924000	0.31332	0.036000	0.18154	0.052000	0.14988	1.147000	0.31602	-0.077000	0.12752	-0.268000	0.10319	CGA	FLT4	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	G			180056292	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	nonsense	SNP	0.008	A	A	180056292	G	A	180056292	4	1	25	1	0	0	0	0	0	1	0	0	5962	1095	38	2	3243	2	FLT4	5	180056292	Nonsense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	19985097	180056292	858968	33	3792										
GMPR	2766	genome.wustl.edu	37	chr6	16295255	16295255	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	agagcctctgagggtaagacTgtggaagttccttacaaagg	13	7	1	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:16295255T>G	ENST00000259727.4	+	9	990	c.876T>G	c.(874-876)acT>acG	p.T292T	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	292					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGGGTAAGACTGTGGAAGTTC	0.502																																																	0													70	72	71					6																	16295255		2203	4300	6503	SO:0001819	synonymous_variant	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.876T>G	6.37:g.16295255T>G			Q96HQ6	Silent	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.T292	ENST00000259727.4	37	c.876	CCDS4537.1	6																																																																																			GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1		0.502	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	T			16295255	1	no_errors	ENST00000259727	ensembl	human	known	70_37	silent	SNP	0.015	G	G	16295255	T	G	16295255	2	3	25	1	0	0	0	0	0	0	0	1	6515	1567	55	5		5	GMPR	6	16295255	Silent	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08		16295255	154819812	34	3793										
HLA-B	3106	genome.wustl.edu	37	chr6	31324496	31324496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggttgtagtagccgcgcagGttccgcaggctctctcggtc	14	12	1	0	rs2308559|rs540530530|rs66473235	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:31324496G>T	ENST00000412585.2	-	2	340	c.312C>A	c.(310-312)aaC>aaA	p.N104K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	104	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.N104K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCCGCGCAGGTTCCGCAGGC	0.692									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Substitution - Missense(1)	prostate(1)						G	LYS/ASN	14,4158		0,14,2072	44	46	46	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	312	1.4	0	6	dbSNP_123	46	57,8235		0,57,4089	no	missense	HLA-B	NM_005514.6	94	0,71,6161	TT,TG,GG		0.6874,0.3356,0.5696		104/363	31324496	71,12393	2086	4146	6232	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.312C>A	6.37:g.31324496G>T	ENSP00000399168:p.Asn104Lys		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.N104K	ENST00000412585.2	37	c.312	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.01	1.513634	0.27123	0.003356	0.006874	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00686	5.85;5.85	3.2	1.36	0.22044	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.720518	0.10376	U	0.682146	T	0.00695	0.0023	M	0.73430	2.235	0.09310	N	1	P;P;P	0.44816	0.662;0.525;0.844	B;P;P	0.49332	0.222;0.474;0.607	T	0.47535	-0.9110	10	0.46703	T	0.11	.	4.6229	0.12463	0.1304:0.226:0.6436:0.0	rs2308559;rs3180129;rs3206801;rs9264667;rs11547354	104;104;79	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	K	104;115	ENSP00000399168:N104K;ENSP00000405931:N115K	ENSP00000399168:N104K	N	-	3	2	HLA-B	31432475	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.387000	0.07361	0.201000	0.20466	0.448000	0.29417	AAC	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.692	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31324496	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31324496	G	T	31324496	3	4	25	1	0	0	0	0	1	0	0	0	7216	1252	44	4	800	4	HLA-B	6	31324496	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	15029241	31324496	139790571	35	3794										
HLA-DRB5	3127	genome.wustl.edu	37	chr6	32487256	32487256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	accagggtctggaaggtccaGtctccattctgaatcaggcc	11	12	4	1	rs112401921	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:32487256G>A	ENST00000374975.3	-	3	605	c.543C>T	c.(541-543)gaC>gaT	p.D181D		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGAAGGTCCAGTCTCCATTCT	0.552													G|||	303	0.0605032	0.0567	0.1037	5008	,	,		14760	0.0139		0.1243	False		,,,				2504	0.0174																0								G		179,3689		11,157,1766	61	68	65		543	2.8	1	6	dbSNP_132	65	469,7265		25,419,3423	no	coding-synonymous	HLA-DRB5	NM_002125.3		36,576,5189	AA,AG,GG		6.0641,4.6277,5.5852		181/267	32487256	648,10954	1934	3867	5801	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.543C>T	6.37:g.32487256G>A				Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.D181	ENST00000374975.3	37	c.543	CCDS4751.1	6																																																																																			HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	G	NM_002125		32487256	-1	no_errors	ENST00000374975	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32487256	G	A	32487256	2	1	25	1	0	0	0	0	0	0	0	1	7229	1020	36	4		4	HLA-DRB5	6	32487256	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	1162760	32487256	138627811	36	3795										
KIFC1	3833	genome.wustl.edu	37	chr6	33371529	33371530	+	Nonsense_Mutation	DNP	GG	GG	TA													0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	caggtgttcctcccatggcaGgagggaagaaacccagcaaa							TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:33371529_33371530GG>TA	ENST00000428849.2	+	6	829_830	c.379_380GG>TA	c.(379-381)GGa>TAa	p.G127*	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	127					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCCCATGGCAGGAGGGAAGAAA	0.495																																																	0																																										SO:0001587	stop_gained	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	Exception_encountered	6.37:g.33371529_33371530delinsTA	ENSP00000393963:p.Gly127*		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G127*|p.G127E	ENST00000428849.2	37	c.379|c.380	CCDS34430.1	6																																																																																			KIFC1	-	NULL		0.495	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33371529|33371530	1	no_errors	ENST00000428849	ensembl	human	known	70_37	nonsense|missense	SNP	0.003	T|A	TA	33371530	GG	TA	33371529	4	4	25	1	0	0	0	0	0	1	0	0	8332	1001	35	4	401	4	KIFC1	6	33371529	Nonsense_Mutation	DNP	GG	TCGA-C5-A1ML-01A-11D-A14W-08	884273	33371529	137743538	37	3796										
BTBD9	114781	genome.wustl.edu	37	chr6	38560593	38560593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggagctgcaaatgagtctctTaacacgatgtttaaaagtgc	10	7	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:38560593T>C	ENST00000481247.1	-	4	724	c.573A>G	c.(571-573)ttA>ttG	p.L191L	BTBD9_ENST00000419706.2_Silent_p.L132L|BTBD9_ENST00000403056.1_Silent_p.L191L|BTBD9_ENST00000314100.6_Silent_p.L123L|BTBD9_ENST00000408958.1_Silent_p.L123L	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	191	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATGAGTCTCTTAACACGATGT	0.373																																																	0													81	74	76					6																	38560593		1849	4091	5940	SO:0001819	synonymous_variant	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.573A>G	6.37:g.38560593T>C			Q494V9|Q494W1|Q96M00	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L191	ENST00000481247.1	37	c.573	CCDS47418.1	6																																																																																			BTBD9	-	pfam_BACK,smart_BACK		0.373	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	T	NM_152733		38560593	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	silent	SNP	0.970	C	C	38560593	T	C	38560593	2	2	25	1	0	0	0	0	0	0	0	1	1551	1751	61	5		5	BTBD9	6	38560593	Silent	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08	5189064	38560593	132554474	38	3797										
C6orf108	23113	genome.wustl.edu	37	chr6	43193806	43193806	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggcggaacaggcacaggatcCgcttgttaaaggccacggcc	14	12	0	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:43193806C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Missense_Mutation_p.R114Q|DNPH1_ENST00000393987.2_Missense_Mutation_p.R114Q|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACAGGATCCGCTTGTTAAA	0.632																																																	0													38	32	34					6																	43193806		2203	4300	6503	SO:0001628	intergenic_variant	10591			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43193806C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Nucleoside_deoxyribTrfase	p.R114Q	ENST00000252050.4	37	c.341	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828743	0.16749	.	.	ENSG00000112667	ENST00000230431;ENST00000509253;ENST00000393987	.	.	.	4.73	-2.31	0.06765	.	0.782162	0.11030	N	0.607312	T	0.06872	0.0175	N	0.21448	0.665	0.09310	N	0.999998	B;B	0.30236	0.274;0.147	B;B	0.17979	0.015;0.02	T	0.24799	-1.0150	9	0.27785	T	0.31	-4.6407	9.426	0.38581	0.0:0.2029:0.6232:0.1739	.	114;114	O43598-2;O43598	.;RCL_HUMAN	Q	114;183;114	.	ENSP00000230431:R114Q	R	-	2	0	C6orf108	43301784	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-1.181000	0.03085	-0.772000	0.04602	0.462000	0.41574	CGG	C6orf108	-	pfam_Nucleoside_deoxyribTrfase		0.632	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf108	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43193806	-1	no_errors	ENST00000230431	ensembl	human	known	70_37	missense	SNP	0.007	T	T	43193806	C	T	43193806	1	4	25	0	1	0	0	0	0	0	0	0	2325	652	23	2		2	C6orf108	6	43193806	IGR	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	4633213	43193806	127921261	39	3798										
PM20D2	135293	genome.wustl.edu	37	chr6	89856088	89856088	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gagccgcccgcggcctcctgGgcagtgcagccgcactacca	13	18	0	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:89856088G>C	ENST00000275072.4	+	1	320	c.225G>C	c.(223-225)tgG>tgC	p.W75C		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	75						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CGGCCTCCTGGGCAGTGCAGC	0.756																																																	0													3	4	3					6																	89856088		1675	3597	5272	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.225G>C	6.37:g.89856088G>C	ENSP00000275072:p.Trp75Cys		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.W75C	ENST00000275072.4	37	c.225	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581264	0.65992	.	.	ENSG00000146281	ENST00000275072	T	0.46819	0.86	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57774	-0.7753	10	0.38643	T	0.18	-5.7416	17.8859	0.88854	0.0:0.0:1.0:0.0	.	75	Q8IYS1	P20D2_HUMAN	C	75	ENSP00000275072:W75C	ENSP00000275072:W75C	W	+	3	0	PM20D2	89912807	1.000000	0.71417	0.969000	0.41365	0.174000	0.22865	7.706000	0.84615	2.449000	0.82847	0.561000	0.74099	TGG	PM20D2	-	pirsf_Pept_M20D_amidohydro_pred		0.756	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	G	NM_001010853		89856088	1	no_errors	ENST00000275072	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89856088	G	C	89856088	3	2	25	1	0	0	0	0	1	0	0	0	12153	1241	43	4	227	4	PM20D2	6	89856088	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	46662282	89856088	81258979	40	3799										
SYNE1	23345	genome.wustl.edu	37	chr6	152716799	152716799	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gttcagttttctgtgctgatCttcaaagctaagggaaagaa	10	6	4	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:152716799C>T	ENST00000367255.5	-	51	8165	c.7564G>A	c.(7564-7566)Gat>Aat	p.D2522N	SYNE1_ENST00000341594.5_Missense_Mutation_p.D2561N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2529N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2522N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2529N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2522					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTGCTGATCTTCAAAGCTA	0.348										HNSCC(10;0.0054)																																							0													105	98	101					6																	152716799		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7564G>A	6.37:g.152716799C>T	ENSP00000356224:p.Asp2522Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D2522N	ENST00000367255.5	37	c.7564	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141806	0.57044	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.56	5.56	0.83823	.	0.093388	0.46758	D	0.000276	T	0.36166	0.0957	L	0.57536	1.79	0.80722	D	1	D;P;P;P	0.59767	0.986;0.745;0.745;0.799	P;B;B;B	0.49637	0.617;0.276;0.276;0.366	T	0.03829	-1.1000	10	0.31617	T	0.26	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	2505;2522;2522;2529	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2522;2529;2522;2529;2561	ENSP00000356224:D2522N;ENSP00000396024:D2529N;ENSP00000265368:D2522N;ENSP00000390975:D2529N;ENSP00000341887:D2561N	ENSP00000265368:D2522N	D	-	1	0	SYNE1	152758492	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.260000	0.58835	2.598000	0.87819	0.655000	0.94253	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152716799	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152716799	C	T	152716799	3	4	25	1	0	0	0	0	1	0	0	0	15475	913	32	1	19286	1	SYNE1	6	152716799	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	62860711	152716799	18398268	41	3800										
ELMO1	9844	genome.wustl.edu	37	chr7	36910022	36910022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ttttgtttaagggcacctttCtctttcatatgagggcagtc	9	8	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:36910022C>G	ENST00000310758.4	-	20	2528	c.1881G>C	c.(1879-1881)gaG>gaC	p.E627D	ELMO1_ENST00000396040.2_Missense_Mutation_p.E147D|ELMO1_ENST00000442504.1_Missense_Mutation_p.E627D|ELMO1_ENST00000396045.3_Missense_Mutation_p.E147D|ELMO1_ENST00000341056.3_Missense_Mutation_p.E329D|ELMO1_ENST00000448602.1_Missense_Mutation_p.E627D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	627	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGCACCTTTCTCTTTCATAT	0.458																																																	0													184	165	172					7																	36910022		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1881G>C	7.37:g.36910022C>G	ENSP00000312185:p.Glu627Asp		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E627D	ENST00000310758.4	37	c.1881	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568097	0.45798	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.41	3.57	0.40892	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.55017	1.72	0.54753	D	0.999981	B	0.16802	0.019	B	0.14023	0.01	T	0.28776	-1.0033	10	0.24483	T	0.36	.	12.6213	0.56605	0.0:0.8581:0.0:0.1419	.	627	Q92556	ELMO1_HUMAN	D	329;147;627;531;147;627;627	ENSP00000342142:E329D;ENSP00000379360:E147D;ENSP00000312185:E627D;ENSP00000379355:E147D;ENSP00000406952:E627D;ENSP00000394458:E627D	ENSP00000312185:E627D	E	-	3	2	ELMO1	36876547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.913000	0.28611	1.431000	0.47355	0.655000	0.94253	GAG	ELMO1	-	NULL		0.458	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		36910022	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36910022	C	G	36910022	3	3	25	1	0	0	0	0	1	0	0	0	5077	912	32	1	314	1	ELMO1	7	36910022	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		36910022	122228641	42	3801										
ZNF479	90827	genome.wustl.edu	37	chr7	57188853	57188853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggtcttgggtgaaatgggaaCgcgtaactgaaagacacaaa	13	6	1	3	rs562881488	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:57188853C>T	ENST00000331162.4	-	5	539	c.269G>A	c.(268-270)cGt>cAt	p.R90H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATGGGAACGCGTAACTGA	0.353													.|||	3	0.000599042	8e-04	0	5008	,	,		18708	0		0.002	False		,,,				2504	0																0																																										SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.269G>A	7.37:g.57188853C>T	ENSP00000333776:p.Arg90His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R90H	ENST00000331162.4	37	c.269	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.853587	0.00558	.	.	ENSG00000185177	ENST00000331162	T	0.06687	3.27	1.29	-2.58	0.06228	.	.	.	.	.	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38478	-0.9659	9	0.31617	T	0.26	.	3.7811	0.08680	0.0:0.3532:0.2832:0.3636	.	90	Q96JC4	ZN479_HUMAN	H	90	ENSP00000333776:R90H	ENSP00000333776:R90H	R	-	2	0	ZNF479	57192795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.937000	0.00685	-1.749000	0.01330	-2.008000	0.00441	CGT	ZNF479	-	NULL		0.353	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	C	XM_291202		57188853	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57188853	C	T	57188853	3	4	25	1	0	0	0	0	1	0	0	0	17963	536	19	2	1309	2	ZNF479	7	57188853	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	20278831	57188853	101949810	43	3802										
CYP3A43	64816	genome.wustl.edu	37	chr7	99445165	99445165	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	taagttttgctgaagatgaaGaatggaagagaatacgaaca	11	3	0	5			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:99445165G>A	ENST00000354829.2	+	5	476	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E125K|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E125K|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	125			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TGAAGATGAAGAATGGAAGAG	0.353																																																	0													133	133	133					7																	99445165		2203	4300	6503	SO:0001583	missense	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.373G>A	7.37:g.99445165G>A	ENSP00000346887:p.Glu125Lys		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.E125K	ENST00000354829.2	37	c.373	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281887	0.40394	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.66460	-0.21;-0.21;-0.21	2.58	-5.16	0.02857	.	0.636178	0.16119	N	0.228736	T	0.47948	0.1473	N	0.20610	0.595	0.22888	N	0.99861	B;B;B	0.14805	0.011;0.004;0.002	B;B;B	0.21546	0.035;0.008;0.004	T	0.34675	-0.9819	10	0.56958	D	0.05	.	14.2079	0.65746	0.0:0.7907:0.2093:0.0	.	125;125;125	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	K	125	ENSP00000346887:E125K;ENSP00000312110:E125K;ENSP00000222382:E125K	ENSP00000222382:E125K	E	+	1	0	CYP3A43	99283101	0.000000	0.05858	0.337000	0.25536	0.823000	0.46562	-0.651000	0.05372	-0.839000	0.04212	0.205000	0.17691	GAA	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.353	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	G			99445165	1	no_errors	ENST00000222382	ensembl	human	known	70_37	missense	SNP	0.248	A	A	99445165	G	A	99445165	3	1	25	1	0	0	0	0	1	0	0	0	4184	943	33	1	391	1	CYP3A43	7	99445165	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	42256312	99445165	59693498	44	3803										
ZKSCAN1	7586	genome.wustl.edu	37	chr7	99627904	99627904	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atcgaggacatggctgtgtcCctcattctggaggaatgggg	15	8	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:99627904C>A	ENST00000324306.6	+	5	939	c.705C>A	c.(703-705)tcC>tcA	p.S235S	ZKSCAN1_ENST00000535170.1_Silent_p.S22S|ZKSCAN1_ENST00000426572.1_Silent_p.S199S	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	235	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGCTGTGTCCCTCATTCTGG	0.502																																																	0													139	119	126					7																	99627904		2203	4300	6503	SO:0001819	synonymous_variant	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.705C>A	7.37:g.99627904C>A			A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S235	ENST00000324306.6	37	c.705	CCDS34698.1	7																																																																																			ZKSCAN1	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	C	NM_003439		99627904	1	no_errors	ENST00000324306	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99627904	C	A	99627904	2	1	25	1	0	0	0	0	0	0	0	1	17716	610	22	4		4	ZKSCAN1	7	99627904	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	182739	99627904	59510759	45	3804										
ZAN	7455	genome.wustl.edu	37	chr7	100355966	100355966	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	agtatggatgccacccctacGgtgagagcccctccccatgc	10	16	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:100355966G>T	ENST00000348028.3	+	0	3616				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCCCTACGGTGAGAGCCC	0.632																																																	0													31	35	34					7																	100355966		2086	4206	6292			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100355966G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.A1151S	ENST00000348028.3	37	c.3451		7	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299696	0.40694	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.14266	2.55;2.55;2.52	4.21	4.21	0.49690	von Willebrand factor, type D domain (1);	0.196323	0.25270	N	0.031887	T	0.19525	0.0469	N	0.25144	0.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.953	T	0.02781	-1.1111	10	0.15499	T	0.54	.	12.3558	0.55174	0.0:0.0:1.0:0.0	.	1151;1151	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1151	ENSP00000445943:A1151S;ENSP00000445091:A1151S;ENSP00000444427:A1151S	ENSP00000423579:A1151S	A	+	1	0	ZAN	100193902	0.999000	0.42202	0.999000	0.59377	0.705000	0.40729	3.550000	0.53691	2.625000	0.88918	0.655000	0.94253	GCA	ZAN	-	smart_VWC_out,smart_VWF_type-D		0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100355966	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100355966	G	T	100355966	1	4	25	0	1	0	0	0	0	0	0	0	17544	1130	39	2		2	ZAN	7	100355966	RNA	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	728062	100355966	58782697	46	3805										
CPA4	51200	genome.wustl.edu	37	chr7	129962360	129962360	+	Silent	SNP	G	G	T	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gggagcagcatcgactgggcAtatgacaacggcatcaaatt	12	9	1	1	rs1569133	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:129962360G>T	ENST00000222482.4	+	11	1138	c.1110G>T	c.(1108-1110)gcG>gcT	p.A370A	CPA4_ENST00000493259.1_Silent_p.A266A|CPA4_ENST00000445470.2_Silent_p.A337A	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	370					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCGACTGGGCATATGACAACG	0.527																																																	0													152	139	143					7																	129962360		2203	4300	6503	SO:0001819	synonymous_variant	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1110G>T	7.37:g.129962360G>T			B7Z576|Q86UY9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.A370	ENST00000222482.4	37	c.1110	CCDS5818.1	7																																																																																			CPA4	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.527	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	G	NM_016352		129962360	1	no_errors	ENST00000222482	ensembl	human	known	70_37	silent	SNP	0.002	T	T	129962360	G	T	129962360	2	4	25	1	0	0	0	0	0	0	0	1	3797	204	8	5		5	CPA4	7	129962360	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	29606394	129962360	29176303	47	3806										
TRPV6	55503	genome.wustl.edu	37	chr7	142575713	142575713	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	accttgcaatcctcatacttGagcaacttgttcagggcctg	8	12	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:142575713G>C	ENST00000359396.3	-	2	440	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	65					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCATACTTGAGCAACTTGT	0.517																																																	0													199	153	169					7																	142575713		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.195C>G	7.37:g.142575713G>C			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.L65	ENST00000359396.3	37	c.195	CCDS5874.1	7																																																																																			TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.517	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	G	NM_014274		142575713	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.990	C	C	142575713	G	C	142575713	2	2	25	1	0	0	0	0	0	0	0	1	16631	1277	45	1		1	TRPV6	7	142575713	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	12613353	142575713	16562950	48	3807										
DOCK5	80005	genome.wustl.edu	37	chr8	25198414	25198414	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ttttatgggcagagcaaagaTggagatgagtttaataattc	11	3	0	4	rs377089070		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:25198414T>A	ENST00000276440.7	+	23	2393	c.2349T>A	c.(2347-2349)gaT>gaA	p.D783E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	783					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGCAAAGATGGAGATGAGT	0.388																																					Pancreas(145;34 1887 3271 10937 30165)												0								T	GLU/ASP	0,4406		0,0,2203	98	97	97		2349	-0.1	1	8		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK5	NM_024940.6	45	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	benign	783/1871	25198414	1,13005	2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2349T>A	8.37:g.25198414T>A	ENSP00000276440:p.Asp783Glu		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D783E	ENST00000276440.7	37	c.2349	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.739|8.739	0.918577|0.918577	0.17982|0.17982	0.0|0.0	1.16E-4|1.16E-4	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.74315|.	-0.83|.	4.99|4.99	-0.137|-0.137	0.13469|0.13469	Armadillo-type fold (1);|.	0.052797|.	0.64402|.	D|.	0.000001|.	T|T	0.28995|0.28995	0.0720|0.0720	N|N	0.11341|0.11341	0.13|0.13	0.47862|0.47862	D|D	0.999534|0.999534	B;B;B|.	0.16802|.	0.008;0.001;0.019|.	B;B;B|.	0.17979|.	0.013;0.002;0.02|.	T|T	0.03981|0.03981	-1.0987|-1.0987	10|5	0.06365|.	T|.	0.9|.	.|.	5.2697|5.2697	0.15618|0.15618	0.1333:0.3613:0.0:0.5053|0.1333:0.3613:0.0:0.5053	.|.	773;558;783|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	E|R	783|555	ENSP00000276440:D783E|.	ENSP00000276440:D783E|.	D|W	+|+	3|1	2|0	DOCK5|DOCK5	25254331|25254331	0.846000|0.846000	0.29590|0.29590	0.997000|0.997000	0.53966|0.53966	0.870000|0.870000	0.49936|0.49936	-0.074000|-0.074000	0.11450|0.11450	-0.162000|-0.162000	0.10964|0.10964	0.528000|0.528000	0.53228|0.53228	GAT|TGG	DOCK5	-	superfamily_ARM-type_fold		0.388	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	T	NM_024940		25198414	1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	0.987	A	A	25198414	T	A	25198414	3	1	25	1	0	0	0	0	1	0	0	0	4700	1461	51	5	2439	5	DOCK5	8	25198414	Missense_Mutation	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08		25198414	121165608	49	3808										
CNGB3	54714	genome.wustl.edu	37	chr8	87591017	87591017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtttgggtgtctcttctttcGgtgggaagaggagggcaaga	17	5	2	2	rs146161333		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:87591017G>T	ENST00000320005.5	-	17	2050	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	668					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTCTTCTTTCGGTGGGAAGAG	0.468																																																	0													133	131	132					8																	87591017		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2003C>A	8.37:g.87591017G>T	ENSP00000316605:p.Pro668Gln		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P668Q	ENST00000320005.5	37	c.2003	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	g	8.328	0.825911	0.16749	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.76968	-1.06;0.17	5.3	3.53	0.40419	.	0.244954	0.33753	N	0.004590	T	0.57621	0.2066	N	0.17474	0.49	0.09310	N	1	P;P	0.42123	0.771;0.662	B;B	0.36922	0.236;0.119	T	0.49244	-0.8960	10	0.33940	T	0.23	.	7.4799	0.27398	0.1393:0.0:0.6998:0.1609	.	663;668	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	59;668	ENSP00000428329:P59Q;ENSP00000316605:P668Q	ENSP00000316605:P668Q	P	-	2	0	CNGB3	87660133	0.002000	0.14202	0.060000	0.19600	0.394000	0.30568	1.022000	0.30052	0.650000	0.30769	-1.292000	0.01352	CCG	CNGB3	-	NULL		0.468	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	G	NM_019098		87591017	-1	no_errors	ENST00000320005	ensembl	human	known	70_37	missense	SNP	0.053	T	T	87591017	G	T	87591017	3	4	25	1	0	0	0	0	1	0	0	0	3606	1116	39	2	434	2	CNGB3	8	87591017	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	62392603	87591017	58773005	50	3809										
TRPS1	7227	genome.wustl.edu	37	chr8	116617063	116617063	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	caacctcagaggaggggagaGaagcttttattttgtttggg	14	5	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:116617063G>A	ENST00000220888.5	-	3	1253	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	TRPS1_ENST00000395715.3_Missense_Mutation_p.S378F|TRPS1_ENST00000519674.1_Missense_Mutation_p.S365F|TRPS1_ENST00000520276.1_Missense_Mutation_p.S369F|TRPS1_ENST00000519076.1_Missense_Mutation_p.S319F			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	365					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGGGGAGAGAAGCTTTTAT	0.413									Langer-Giedion syndrome																																								0													118	112	114					8																	116617063		1840	4096	5936	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1094C>T	8.37:g.116617063G>A	ENSP00000220888:p.Ser365Phe		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.S378F	ENST00000220888.5	37	c.1133		8	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063870	0.55432	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.69	5.69	0.88448	.	0.177611	0.51477	D	0.000098	T	0.78039	0.4221	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.29590	0.25;0.162;0.25	B;B;B	0.37047	0.24;0.066;0.24	T	0.78132	-0.2323	10	0.87932	D	0	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	369;365;378	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	F	378;365;319;369;365	ENSP00000379065:S378F;ENSP00000220888:S365F;ENSP00000428910:S319F;ENSP00000428680:S369F;ENSP00000429174:S365F	ENSP00000220888:S365F	S	-	2	0	TRPS1	116686238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.922000	0.70036	2.840000	0.97914	0.655000	0.94253	TCT	TRPS1	-	NULL		0.413	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116617063	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116617063	G	A	116617063	3	1	25	1	0	0	0	0	1	0	0	0	16624	942	33	1	2767	1	TRPS1	8	116617063	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	29026046	116617063	29746959	51	3810										
KIAA2026	158358	genome.wustl.edu	37	chr9	6007361	6007361	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gccgctggcgaacttctcttCcatctgcagcagacacatgc	9	15	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:6007361C>A	ENST00000399933.3	-	1	426	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.E143*|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	143								p.E143Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTTCTCTTCCATCTGCAGC	0.692																																																	1	Substitution - Missense(1)	lung(1)											28	32	31					9																	6007361		1979	4140	6119	SO:0001587	stop_gained	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.427G>T	9.37:g.6007361C>A	ENSP00000382815:p.Glu143*		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	superfamily_Bromodomain	p.E143*	ENST00000399933.3	37	c.427		9	.	.	.	.	.	.	.	.	.	.	C	36	5.623714	0.96660	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.43	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.3783	0.55293	0.1686:0.8314:0.0:0.0	.	.	.	.	X	143	.	ENSP00000370870:E143X	E	-	1	0	KIAA2026	5997361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.070000	0.57548	0.976000	0.38417	0.561000	0.74099	GAA	KIAA2026	-	superfamily_Bromodomain		0.692	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		6007361	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	nonsense	SNP	1.000	A	A	6007361	C	A	6007361	4	1	25	1	0	0	0	0	0	1	0	0	8290	864	30	3	5916	3	KIAA2026	9	6007361	Nonsense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		6007361	135206070	52	3811										
ROR2	4920	genome.wustl.edu	37	chr9	94495419	94495419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctcacagcggcccagcctctCggctgggatgccaatgcgca	12	16	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:94495419C>T	ENST00000375708.3	-	6	1120	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E168K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	308					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGCCTCTCGGCTGGGATG	0.687																																																	0													5	7	6					9																	94495419		1944	3927	5871	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.922G>A	9.37:g.94495419C>T	ENSP00000364860:p.Glu308Lys		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E308K	ENST00000375708.3	37	c.922	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314158	0.60414	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.77098	-1.07;-1.06	4.44	4.44	0.53790	Kringle (1);Kringle-like fold (1);	0.000000	0.42548	D	0.000681	T	0.67353	0.2884	L	0.42632	1.34	0.80722	D	1	P;P;P	0.52316	0.894;0.952;0.667	B;B;B	0.36092	0.217;0.202;0.154	T	0.68447	-0.5406	10	0.21540	T	0.41	.	17.2815	0.87129	0.0:1.0:0.0:0.0	.	308;308;168	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	K	168;308	ENSP00000364867:E168K;ENSP00000364860:E308K	ENSP00000364860:E308K	E	-	1	0	ROR2	93535240	1.000000	0.71417	0.931000	0.37212	0.729000	0.41735	6.899000	0.75682	2.306000	0.77630	0.561000	0.74099	GAG	ROR2	-	superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR		0.687	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94495419	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.999	T	T	94495419	C	T	94495419	3	4	25	1	0	0	0	0	1	0	0	0	13557	893	31	1	1925	1	ROR2	9	94495419	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	88488058	94495419	46718012	53	3812										
AKAP2	11217	genome.wustl.edu	37	chr9	112811046	112811046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctcctggacccccggagtctCctggacccccggagcgggag	14	17	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:112811046C>T	ENST00000374525.1	+	1	71	c.67C>T	c.(67-69)Cct>Tct	p.P23S	AKAP2_ENST00000434623.2_Missense_Mutation_p.P23S|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	377										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCCGGAGTCTCCTGGACCCCC	0.766																																																	0													2	2	2					9																	112811046		1265	3045	4310	SO:0001583	missense	11217			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.67C>T	9.37:g.112811046C>T	ENSP00000363649:p.Pro23Ser		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_RII_binding_1	p.P23S	ENST00000374525.1	37	c.67	CCDS43861.1	9	.	.	.	.	.	.	.	.	.	.	-	2.785	-0.252640	0.05829	.	.	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.43688	1.53;0.94	.	.	.	.	.	.	.	.	T	0.35038	0.0918	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32508	-0.9904	4	0.46703	T	0.11	-1.8079	.	.	.	.	23;24	Q9Y2D5-7;B1ALY1	.;.	S	23	ENSP00000404782:P23S;ENSP00000363649:P23S	ENSP00000363649:P23S	P	+	1	0	AKAP2	111850867	0.140000	0.22579	0.023000	0.16930	0.027000	0.11550	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CCT	AKAP2	-	NULL		0.766	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP2	HGNC	protein_coding	OTTHUMT00000053609.3	C	NM_001004065		112811046	1	no_errors	ENST00000374525	ensembl	human	known	70_37	missense	SNP	0.016	T	T	112811046	C	T	112811046	3	4	25	1	0	0	0	0	1	0	0	0	451	855	30	1	69	1	AKAP2	9	112811046	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	18315627	112811046	28402385	54	3813										
AGPAT2	10555	genome.wustl.edu	37	chr9	139571111	139571111	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	attgtcgttgcgagtaccctCgggatagatccacactttga	10	10	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:139571111C>A	ENST00000371696.2	-	4	579	c.514G>T	c.(514-516)Gag>Tag	p.E172*	AGPAT2_ENST00000538402.1_Nonsense_Mutation_p.E172*|AGPAT2_ENST00000371694.3_Intron	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	172					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGAGTACCCTCGGGATAGATC	0.627																																																	0			GRCh37	CM031119	AGPAT2	M							112	93	99					9																	139571111		2203	4300	6503	SO:0001587	stop_gained	10555			AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.514G>T	9.37:g.139571111C>A	ENSP00000360761:p.Glu172*		O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Nonsense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.E172*	ENST00000371696.2	37	c.514	CCDS7003.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.472985	0.97594	.	.	ENSG00000169692	ENST00000371696;ENST00000538402	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2895	16.8323	0.85947	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000360761:E172X	E	-	1	0	AGPAT2	138690932	0.999000	0.42202	0.993000	0.49108	0.963000	0.63663	5.113000	0.64640	2.211000	0.71520	0.655000	0.94253	GAG	AGPAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans		0.627	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT2	HGNC	protein_coding	OTTHUMT00000055090.1	C	NM_006412		139571111	-1	no_errors	ENST00000371696	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	139571111	C	A	139571111	4	1	25	1	0	0	0	0	0	1	0	0	387	893	31	3	334	3	AGPAT2	9	139571111	Nonsense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	26760065	139571111	1642320	55	3814										
SLC34A3	142680	genome.wustl.edu	37	chr9	140126613	140126613	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	acacaagccagccctggaaaGgtgggtctggaggttccggg	16	10	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:140126613G>A	ENST00000538474.1	+	3	399	c.175G>A	c.(175-177)Gag>Aag	p.E59K	SLC34A3_ENST00000361134.2_Splice_Site_p.E59K	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	59					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCCTGGAAAGGTGGGTCTGG	0.647																																																	0													72	77	75					9																	140126613		2203	4300	6503	SO:0001630	splice_region_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.175+1G>A	9.37:g.140126613G>A			A2BFA1	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.E59K	ENST00000538474.1	37	c.175	CCDS7038.1	9	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573219	0.65765	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.35789	1.29;1.29	3.58	3.58	0.41010	.	0.116260	0.35436	U	0.003220	T	0.38746	0.1052	M	0.76170	2.325	0.80722	D	1	P	0.40970	0.734	B	0.37731	0.257	T	0.50734	-0.8793	10	0.72032	D	0.01	-14.7007	12.7098	0.57083	0.0:0.0:1.0:0.0	.	59	Q8N130	NPT2C_HUMAN	K	59	ENSP00000442397:E59K;ENSP00000355353:E59K	ENSP00000355353:E59K	E	+	1	0	SLC34A3	139246434	1.000000	0.71417	0.988000	0.46212	0.649000	0.38597	3.989000	0.56958	1.823000	0.53134	0.306000	0.20318	GAG	SLC34A3	-	NULL		0.647	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	G	NM_080877	Missense_Mutation	140126613	1	no_errors	ENST00000361134	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140126613	G	A	140126613	5	1	25	1	0	0	0	0	0	0	1	0	14599	1014	35	4	181	4	SLC34A3	9	140126613	Splice_Site	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	555502	140126613	1086818	56	3815										
FAM107B	83641	genome.wustl.edu	37	chr10	14709633	14709633	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tcacacagaatgtactctacCtgatgtcattttctgctcca	5	12	4	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:14709633C>A	ENST00000181796.2	-	2	702	c.469G>T	c.(469-471)Gac>Tac	p.D157Y		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTACTCTACCTGATGTCATT	0.448																																																	0													142	131	135					10																	14709633		2203	4300	6503	SO:0001630	splice_region_variant	83641			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.469+1G>T	10.37:g.14709633C>A			A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	NULL	p.G157*	ENST00000181796.2	37	c.469	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216106	0.58452	.	.	ENSG00000065809	ENST00000181796	T	0.54866	0.55	4.52	4.52	0.55395	.	0.232319	0.28865	N	0.013899	T	0.70202	0.3197	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71133	-0.4681	8	.	.	.	.	12.9327	0.58296	0.0:1.0:0.0:0.0	.	157	Q9H098-2	.	Y	157	ENSP00000181796:D157Y	.	D	-	1	0	FAM107B	14749639	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	3.347000	0.52200	2.518000	0.84900	0.555000	0.69702	GAC	FAM107B	-	NULL		0.448	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	C	NM_031453	Missense_Mutation	14709633	-1	no_errors	ENST00000487335	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	14709633	C	A	14709633	5	1	25	1	0	0	0	0	0	0	1	0	5405	695	24	4	467	4	FAM107B	10	14709633	Splice_Site	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		14709633	120825114	57	3816										
SEC24C	9632	genome.wustl.edu	37	chr10	75523302	75523302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtacagagccatttgttactGgagtacggggccaggtgcca	14	9	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:75523302G>T	ENST00000339365.2	+	8	1204	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.G229*|SEC24C_ENST00000345254.4_Nonsense_Mutation_p.G348*	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	348					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ATTTGTTACTGGAGTACGGGG	0.483																																																	0													82	81	81					10																	75523302		2203	4300	6503	SO:0001587	stop_gained	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1042G>T	10.37:g.75523302G>T	ENSP00000343405:p.Gly348*		B4DZT4|Q8WV25	Nonsense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G348*	ENST00000339365.2	37	c.1042	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.106057	0.97286	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	.	.	.	5.51	5.51	0.81932	.	0.093445	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-8.6585	19.614	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	X	348;348;229	.	ENSP00000343405:G348X	G	+	1	0	SEC24C	75193308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.628000	0.83189	2.873000	0.98535	0.561000	0.74099	GGA	SEC24C	-	NULL		0.483	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75523302	1	no_errors	ENST00000339365	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	75523302	G	T	75523302	4	4	25	1	0	0	0	0	0	1	0	0	14026	1349	47	4	1064	4	SEC24C	10	75523302	Nonsense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	60813669	75523302	60011445	58	3817										
LIPA	3988	genome.wustl.edu	37	chr10	90984904	90984904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ccatagggctagtacagaagGcgacggaagccacaggaccc	13	12	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:90984904G>A	ENST00000336233.5	-	6	942	c.620C>T	c.(619-621)gCc>gTc	p.A207V	LIPA_ENST00000456827.1_Missense_Mutation_p.A207V|LIPA_ENST00000371837.1_Missense_Mutation_p.A151V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	207					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGTACAGAAGGCGACGGAAGC	0.478																																																	0													171	193	185					10																	90984904		2203	4300	6503	SO:0001583	missense	3988			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"Wolman disease"	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.620C>T	10.37:g.90984904G>A	ENSP00000337354:p.Ala207Val		B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.A209V	ENST00000336233.5	37	c.626	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029747	0.35797	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800;ENST00000282673	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.95	-0.214	0.13161	Alpha/beta hydrolase fold-1 (1);	2.229260	0.01370	N	0.012524	T	0.70561	0.3238	M	0.79343	2.45	0.09310	N	0.999999	B;B;B	0.25563	0.129;0.007;0.004	B;B;B	0.28553	0.091;0.015;0.016	T	0.47674	-0.9099	10	0.52906	T	0.07	0.4453	3.501	0.07673	0.1217:0.071:0.2846:0.5226	.	209;151;207	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	V	207;151;207;207;165;207;209;207;207	ENSP00000337354:A207V;ENSP00000360903:A151V;ENSP00000413019:A207V;ENSP00000388415:A207V;ENSP00000282673:A207V	ENSP00000282673:A207V	A	-	2	0	LIPA	90974884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.242000	0.18087	-0.119000	0.11830	-1.330000	0.01273	GCC	LIPA	-	pfam_AB_hydrolase_1		0.478	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	G	NM_000235		90984904	-1	no_errors	ENST00000425287	ensembl	human	known	70_37	missense	SNP	0.000	A	A	90984904	G	A	90984904	3	1	25	1	0	0	0	0	1	0	0	0	8840	1203	42	4	599	4	LIPA	10	90984904	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	15461602	90984904	44549843	59	3818										
KIF11	3832	genome.wustl.edu	37	chr10	94410249	94410249	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgctggtgtggattgttcatCaattggcggggttccatttt	13	6	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:94410249C>A	ENST00000260731.3	+	21	3104	c.3014C>A	c.(3013-3015)tCa>tAa	p.S1005*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	1005					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATTGTTCATCAATTGGCGGG	0.403																																					Colon(47;212 1003 2764 4062 8431)												0													145	134	138					10																	94410249		2203	4300	6503	SO:0001587	stop_gained	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.3014C>A	10.37:g.94410249C>A	ENSP00000260731:p.Ser1005*		A0AV49|B2RMV3|Q15716|Q5VWX0	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1005*	ENST00000260731.3	37	c.3014	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.936361	0.98571	.	.	ENSG00000138160	ENST00000260731	.	.	.	5.87	4.79	0.61399	.	0.217771	0.37053	N	0.002264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7977	0.46470	0.0:0.9023:0.0:0.0977	.	.	.	.	X	1005	.	ENSP00000260731:S1005X	S	+	2	0	KIF11	94400229	0.733000	0.28132	0.317000	0.25265	0.609000	0.37215	1.892000	0.39748	2.788000	0.95919	0.650000	0.86243	TCA	KIF11	-	NULL		0.403	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	C	NM_004523		94410249	1	no_errors	ENST00000260731	ensembl	human	known	70_37	nonsense	SNP	0.009	A	A	94410249	C	A	94410249	4	1	25	1	0	0	0	0	0	1	0	0	8292	838	29	3	3096	3	KIF11	10	94410249	Nonsense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	3425345	94410249	41124498	60	3819										
PIK3AP1	118788	genome.wustl.edu	37	chr10	98408550	98408550	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggtgagcaacaaggcagtgaGgttcttcagtccatacttcg	12	9	2	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:98408550G>T	ENST00000339364.5	-	7	1170	c.1051C>A	c.(1051-1053)Ctc>Atc	p.L351I	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L173I	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	351					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AAGGCAGTGAGGTTCTTCAGT	0.507																																																	0													109	91	97					10																	98408550		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1051C>A	10.37:g.98408550G>T	ENSP00000339826:p.Leu351Ile		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.L351I	ENST00000339364.5	37	c.1051	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433664	0.83776	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.54071	0.59;0.64	5.93	5.93	0.95920	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73294	-0.4028	10	0.72032	D	0.01	-21.5379	12.612	0.56556	0.0749:0.0:0.925:0.0	.	351	Q6ZUJ8	BCAP_HUMAN	I	351;173	ENSP00000339826:L351I;ENSP00000360151:L173I	ENSP00000339826:L351I	L	-	1	0	PIK3AP1	98398540	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.757000	0.74924	2.805000	0.96524	0.655000	0.94253	CTC	PIK3AP1	-	superfamily_Ankyrin_rpt-contain_dom		0.507	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	G	NM_152309		98408550	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98408550	G	T	98408550	3	4	25	1	0	0	0	0	1	0	0	0	11932	1000	35	4	1410	4	PIK3AP1	10	98408550	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	3998301	98408550	37126197	61	3820										
SMC3	9126	genome.wustl.edu	37	chr10	112349666	112349666	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ttagctacttgtggagagaaGagaatgcagaacagcaagca	12	6	0	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:112349666G>A	ENST00000361804.4	+	15	1552	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	476					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGGAGAGAAGAGAATGCAGA	0.358																																																	0													84	87	86					10																	112349666		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1426G>A	10.37:g.112349666G>A	ENSP00000354720:p.Glu476Lys		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E476K	ENST00000361804.4	37	c.1426	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.474603	0.96291	.	.	ENSG00000108055	ENST00000361804	T	0.77489	-1.1	5.97	5.97	0.96955	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.88385	0.3004	10	0.29301	T	0.29	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	476	Q9UQE7	SMC3_HUMAN	K	476	ENSP00000354720:E476K	ENSP00000354720:E476K	E	+	1	0	SMC3	112339656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.833000	0.97629	0.585000	0.79938	GAG	SMC3	-	pfam_RecF/RecN/SMC,superfamily_SMC_hinge		0.358	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112349666	1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112349666	G	A	112349666	3	1	25	1	0	0	0	0	1	0	0	0	14814	943	33	1	1484	1	SMC3	10	112349666	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	13941116	112349666	23185081	62	3821										
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118203952	118203952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	agattggatcaacggttcacGggaatacatccatgctgtaa	10	8	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:118203952G>T	ENST00000369230.3	+	4	529	c.383G>T	c.(382-384)cGg>cTg	p.R128L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	128					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACGGTTCACGGGAATACATC	0.328																																																	0													159	151	153					10																	118203952		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.383G>T	10.37:g.118203952G>T	ENSP00000358232:p.Arg128Leu			Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.R128L	ENST00000369230.3	37	c.383	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286397	0.23478	.	.	ENSG00000203837	ENST00000369230	D	0.91124	-2.79	5.28	-0.537	0.11872	Lipase, N-terminal (1);	1.758660	0.03630	N	0.237692	T	0.76779	0.4035	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.66456	-0.5919	10	0.14656	T	0.56	.	6.4542	0.21920	0.2394:0.0:0.3794:0.3812	.	128	Q17RR3	LIPR3_HUMAN	L	128	ENSP00000358232:R128L	ENSP00000358232:R128L	R	+	2	0	PNLIPRP3	118193942	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.283000	0.02796	0.045000	0.15804	-0.362000	0.07510	CGG	PNLIPRP3	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc		0.328	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118203952	1	no_errors	ENST00000369230	ensembl	human	known	70_37	missense	SNP	0.000	T	T	118203952	G	T	118203952	3	4	25	1	0	0	0	0	1	0	0	0	12176	1116	39	2	397	2	PNLIPRP3	10	118203952	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	5854286	118203952	17330795	63	3822										
SFXN4	119559	genome.wustl.edu	37	chr10	120916222	120916222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	caggtaagagtcttttaatcCaagggccagtcaggccatac	10	10	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:120916222C>A	ENST00000355697.2	-	10	603	c.584G>T	c.(583-585)tGg>tTg	p.W195L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W186L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	195					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCTTTTAATCCAAGGGCCAGT	0.473																																																	0													54	48	50					10																	120916222		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.584G>T	10.37:g.120916222C>A	ENSP00000347924:p.Trp195Leu		Q6WSU4|Q86TD9	Missense_Mutation	SNP	pfam_Mtc	p.W195L	ENST00000355697.2	37	c.584	CCDS7610.1	10	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157660	0.01686	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.17691	2.26;2.26;2.26	3.82	-3.54	0.04653	.	1.050190	0.07510	N	0.908746	T	0.06872	0.0175	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43829	-0.9367	10	0.02654	T	1	-0.9095	14.2016	0.65707	0.252:0.748:0.0:0.0	.	195	Q6P4A7	SFXN4_HUMAN	L	195;186;78;79	ENSP00000347924:W195L;ENSP00000333200:W186L;ENSP00000358127:W79L	ENSP00000333200:W186L	W	-	2	0	SFXN4	120906212	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.281000	0.18810	-0.641000	0.05487	-0.266000	0.10368	TGG	SFXN4	-	pfam_Mtc		0.473	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	HGNC	protein_coding	OTTHUMT00000050642.3	C	XM_058406		120916222	-1	no_errors	ENST00000355697	ensembl	human	known	70_37	missense	SNP	0.000	A	A	120916222	C	A	120916222	3	1	25	1	0	0	0	0	1	0	0	0	14227	595	21	4	449	4	SFXN4	10	120916222	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	2712270	120916222	14618525	64	3823										
PPP2R2D	55844	genome.wustl.edu	37	chr10	133757608	133757608	+	3'UTR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tctttctgcagatgacctgaGaattaatttatggcacttag	8	7	2	3	rs545914041		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:133757608G>T	ENST00000470416.1	+	0	104				PPP2R2D_ENST00000422256.2_5'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GATGACCTGAGAATTAATTTA	0.388																																																	0													127	124	125					10																	133757608		1848	4091	5939	SO:0001624	3_prime_UTR_variant	55844			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*101G>T	10.37:g.133757608G>T			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.R174I	ENST00000470416.1	37	c.521		10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768686	0.90020	.	.	ENSG00000175470	ENST00000455566	T	0.29655	1.56	3.89	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65467	-0.6161	9	0.87932	D	0	-30.8403	16.4715	0.84112	0.0:0.0:1.0:0.0	.	205	Q66LE6	2ABD_HUMAN	I	174	ENSP00000399970:R174I	ENSP00000399970:R174I	R	+	2	0	PPP2R2D	133607598	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.641000	0.91032	2.198000	0.70561	0.655000	0.94253	AGA	PPP2R2D	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.388	PPP2R2D-005	KNOWN	basic	processed_transcript	PPP2R2D	HGNC	protein_coding	OTTHUMT00000051038.1	G	NM_018461		133757608	1	no_errors	ENST00000455566	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133757608	G	T	133757608	1	4	25	0	1	0	0	0	0	0	0	0	12414	942	33	3		3	PPP2R2D	10	133757608	3'UTR	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	12841386	133757608	1777139	65	3824										
NLRP6	171389	genome.wustl.edu	37	chr11	281810	281810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aagaagaagagcctggggaaGcggctccaggccagcctggg	17	10	0	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:281810G>T	ENST00000312165.5	+	4	2076	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	NLRP6_ENST00000534750.1_Missense_Mutation_p.K692N	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	692					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCTGGGGAAGCGGCTCCAGG	0.617																																																	0													27	35	32					11																	281810		2200	4296	6496	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2076G>T	11.37:g.281810G>T	ENSP00000309767:p.Lys692Asn		A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K692N	ENST00000312165.5	37	c.2076	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	4.236	0.042658	0.08196	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.87	3.22	-1.35	0.09114	.	10.086300	0.00357	U	0.000035	T	0.66982	0.2845	L	0.55990	1.75	0.09310	N	1	B;B	0.14012	0.006;0.009	B;B	0.12156	0.003;0.007	T	0.31336	-0.9947	10	0.27082	T	0.32	.	4.1867	0.10402	0.2366:0.371:0.3924:0.0	.	692;692	E9PJZ8;P59044	.;NALP6_HUMAN	N	692	ENSP00000433617:K692N;ENSP00000309767:K692N	ENSP00000309767:K692N	K	+	3	2	NLRP6	271810	0.003000	0.15002	0.004000	0.12327	0.762000	0.43233	1.003000	0.29809	-0.247000	0.09597	0.462000	0.41574	AAG	NLRP6	-	NULL		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281810	1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.108	T	T	281810	G	T	281810	3	4	25	1	0	0	0	0	1	0	0	0	10505	962	34	4	2090	4	NLRP6	11	281810	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		281810	134724706	66	3825										
DCHS1	8642	genome.wustl.edu	37	chr11	6650903	6650903	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ttcacccccccaggtcttacCcacgtcggggtcggttgctc	10	17	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:6650903C>A	ENST00000299441.3	-	11	5446	c.5035G>T	c.(5035-5037)Ggg>Tgg	p.G1679W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1679	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCTTACCCACGTCGGGG	0.597																																																	0													29	28	28					11																	6650903		2200	4296	6496	SO:0001630	splice_region_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5035+1G>T	11.37:g.6650903C>A			O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1679W	ENST00000299441.3	37	c.5035	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512485	0.44660	.	.	ENSG00000166341	ENST00000299441	T	0.67523	-0.27	5.25	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000146	D	0.87916	0.6298	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92279	0.5832	9	.	.	.	.	15.0612	0.71955	0.0:0.8575:0.1425:0.0	.	1679	Q96JQ0	PCD16_HUMAN	W	1679	ENSP00000299441:G1679W	.	G	-	1	0	DCHS1	6607479	1.000000	0.71417	0.984000	0.44739	0.003000	0.03518	5.685000	0.68204	1.440000	0.47531	-0.302000	0.09304	GGG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737	Missense_Mutation	6650903	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6650903	C	A	6650903	5	1	25	1	0	0	0	0	0	0	1	0	4292	637	22	4	4905	4	DCHS1	11	6650903	Splice_Site	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	6369093	6650903	128355613	67	3826										
OR8J3	81168	genome.wustl.edu	37	chr11	55904865	55904865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	acagccagcatcattacctcCgatacaataaagaacaagaa	5	11	1	2	rs533143740		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:55904865C>T	ENST00000301529.1	-	1	329	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCATTACCTCCGATACAATAA	0.478																																																	0													151	139	143					11																	55904865		2201	4296	6497	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.330G>A	11.37:g.55904865C>T			Q6IFB6|Q96RC2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S110	ENST00000301529.1	37	c.330	CCDS31520.1	11																																																																																			OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	C	NM_001004064		55904865	-1	no_errors	ENST00000301529	ensembl	human	known	70_37	silent	SNP	0.002	T	T	55904865	C	T	55904865	2	4	25	1	0	0	0	0	0	0	0	1	11266	639	23	2		2	OR8J3	11	55904865	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	49253962	55904865	79101651	68	3827										
FAM111A	63901	genome.wustl.edu	37	chr11	58919992	58919992	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	agcttctcagaatcctgagtCagagaaaagaaacacctgtg	9	9	2	4	rs373535960		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:58919992C>A	ENST00000528737.1	+	5	3669	c.851C>A	c.(850-852)tCa>tAa	p.S284*	FAM111A_ENST00000420244.1_Nonsense_Mutation_p.S284*|FAM111A_ENST00000531147.1_Nonsense_Mutation_p.S284*|FAM111A_ENST00000361723.3_Nonsense_Mutation_p.S284*|FAM111A_ENST00000533703.1_Nonsense_Mutation_p.S284*			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	284					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATCCTGAGTCAGAGAAAAGA	0.413																																																	0													48	52	50					11																	58919992		2201	4294	6495	SO:0001587	stop_gained	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.851C>A	11.37:g.58919992C>A	ENSP00000434435:p.Ser284*		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.S284*	ENST00000528737.1	37	c.851	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947248	0.73672	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	.	.	.	5.65	-1.99	0.07457	.	1.255020	0.05543	N	0.566175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-12.3586	11.1821	0.48633	0.0:0.5111:0.0:0.4889	.	.	.	.	X	284	.	ENSP00000355264:S284X	S	+	2	0	FAM111A	58676568	0.004000	0.15560	0.000000	0.03702	0.015000	0.08874	-0.118000	0.10692	-0.289000	0.09038	-0.157000	0.13467	TCA	FAM111A	-	NULL		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	C	NM_022074		58919992	1	no_errors	ENST00000361723	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	58919992	C	A	58919992	4	1	25	1	0	0	0	0	0	1	0	0	5414	838	29	3	857	3	FAM111A	11	58919992	Nonsense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	3015127	58919992	76086524	69	3828										
INCENP	3619	genome.wustl.edu	37	chr11	61895726	61895726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aacatggataataaggacttGgtgtggcttgaggaaatcca	12	5	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:61895726G>T	ENST00000394818.3	+	2	295	c.93G>T	c.(91-93)ttG>ttT	p.L31F	INCENP_ENST00000278849.4_Missense_Mutation_p.L31F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	31					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATAAGGACTTGGTGTGGCTTG	0.582																																																	0													89	83	85					11																	61895726		2202	4299	6501	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.93G>T	11.37:g.61895726G>T	ENSP00000378295:p.Leu31Phe		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.L31F	ENST00000394818.3	37	c.93	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512239	0.44660	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.30182	2.13;1.54;2.13	5.71	3.81	0.43845	Chromosome passenger complex (CPC) protein INCENP N-terminal (1);	0.481200	0.17553	N	0.170082	T	0.32645	0.0836	N	0.17082	0.46	0.34093	D	0.660984	D;B;B	0.64830	0.994;0.082;0.1	D;B;B	0.66497	0.944;0.058;0.096	T	0.37549	-0.9701	10	0.32370	T	0.25	.	7.8757	0.29592	0.0874:0.1681:0.7444:0.0	.	31;31;31	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	F	31	ENSP00000378295:L31F;ENSP00000433100:L31F;ENSP00000278849:L31F	ENSP00000278849:L31F	L	+	3	2	INCENP	61652302	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.849000	0.39318	0.748000	0.32831	0.643000	0.83706	TTG	INCENP	-	pfam_INCENP_N		0.582	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61895726	1	no_errors	ENST00000394818	ensembl	human	known	70_37	missense	SNP	0.997	T	T	61895726	G	T	61895726	3	4	25	1	0	0	0	0	1	0	0	0	7753	1339	47	4	95	4	INCENP	11	61895726	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	2975734	61895726	73110790	70	3829										
RBM4	5936	genome.wustl.edu	37	chr11	66411229	66411229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggcagctgcagctgcctccGtgtataattacgcagagcag	12	11	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:66411229G>A	ENST00000409406.1	+	2	1498	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	RBM4_ENST00000514361.3_Missense_Mutation_p.V216M|RBM4_ENST00000408993.2_Missense_Mutation_p.V241M|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.V241M|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.V241M|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.V216M|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	241	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCTGCCTCCGTGTATAATTA	0.567																																																	0													37	44	42					11																	66411229		2041	4210	6251	SO:0001583	missense	5936			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.721G>A	11.37:g.66411229G>A	ENSP00000386894:p.Val241Met		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.V241M	ENST00000409406.1	37	c.721	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052068	0.36181	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.46451	0.87;1.7;1.7;1.7;1.7	6.06	6.06	0.98353	.	2.009150	0.04344	U	0.354605	T	0.32793	0.0841	N	0.08118	0	0.22034	N	0.999409	B;B	0.24882	0.008;0.113	B;B	0.10450	0.005;0.003	T	0.38499	-0.9658	10	0.38643	T	0.18	-1.0988	18.1147	0.89549	0.0:0.0:1.0:0.0	.	216;241	B0LM41;Q9BWF3	.;RBM4_HUMAN	M	216;241;241;241;241;241	ENSP00000388552:V216M;ENSP00000425760:V241M;ENSP00000309166:V241M;ENSP00000386561:V241M;ENSP00000386894:V241M	ENSP00000388552:V216M	V	+	1	0	RBM4;RBM14-RBM4	66167805	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	5.090000	0.64498	2.882000	0.98803	0.655000	0.94253	GTG	RBM4	-	NULL		0.567	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	G	NM_002896		66411229	1	no_errors	ENST00000310092	ensembl	human	known	70_37	missense	SNP	0.998	A	A	66411229	G	A	66411229	3	1	25	1	0	0	0	0	1	0	0	0	13164	1145	40	2	727	2	RBM4	11	66411229	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	4515503	66411229	68595287	71	3830										
LRP5	4041	genome.wustl.edu	37	chr11	68131409	68131409	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gagccaggagcggcagccttTctgtgagtgccggctggggc	18	11	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:68131409T>A	ENST00000294304.7	+	4	987	c.881T>A	c.(880-882)tTc>tAc	p.F294Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	294					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCAGCCTTTCTGTGAGTGC	0.716																																																	0													23	21	22					11																	68131409		2200	4292	6492	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.881T>A	11.37:g.68131409T>A	ENSP00000294304:p.Phe294Tyr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F294Y	ENST00000294304.7	37	c.881	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	T	8.676	0.903879	0.17760	.	.	ENSG00000162337	ENST00000294304	D	0.92965	-3.14	3.26	-0.312	0.12758	Six-bladed beta-propeller, TolB-like (1);	2.002190	0.03671	N	0.243952	T	0.77903	0.4200	N	0.02854	-0.475	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71457	-0.4587	10	0.06236	T	0.91	.	6.4446	0.21869	0.666:0.21:0.0:0.124	.	294	O75197	LRP5_HUMAN	Y	294	ENSP00000294304:F294Y	ENSP00000294304:F294Y	F	+	2	0	LRP5	67887985	0.026000	0.19158	0.981000	0.43875	0.910000	0.53928	1.087000	0.30865	-0.167000	0.10871	-0.475000	0.04921	TTC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.716	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	T	NM_002335		68131409	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.032	A	A	68131409	T	A	68131409	3	1	25	1	0	0	0	0	1	0	0	0	8983	1783	62	5	895	5	LRP5	11	68131409	Missense_Mutation	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08	1720180	68131409	66875107	72	3831										
IGHMBP2	3508	genome.wustl.edu	37	chr11	68703761	68703761	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	acgtggctgtcacccgtgccCgacgccacgtggcggtcatc	13	16	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:68703761C>A	ENST00000255078.3	+	13	1924	c.1813C>A	c.(1813-1815)Cga>Aga	p.R605R	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	605					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACCCGTGCCCGACGCCACGT	0.537																																																	0			GRCh37	CM034537	IGHMBP2	M							159	154	156					11																	68703761		2200	4294	6494	SO:0001819	synonymous_variant	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1813C>A	11.37:g.68703761C>A			A0PJD2|Q00443|Q14177	Silent	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.R605	ENST00000255078.3	37	c.1813	CCDS8187.1	11																																																																																			IGHMBP2	-	tigrfam_DNA_helicase_put		0.537	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	C	NM_002180		68703761	1	no_errors	ENST00000255078	ensembl	human	known	70_37	silent	SNP	0.973	A	A	68703761	C	A	68703761	2	1	25	1	0	0	0	0	0	0	0	1	7611	644	23	2		2	IGHMBP2	11	68703761	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	572352	68703761	66302755	73	3832										
MAML2	84441	genome.wustl.edu	37	chr11	95825167	95825167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggtgaccttagcaaaggctgGcttggtagagattgggcagg	17	6	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:95825167G>T	ENST00000524717.1	-	2	3312	c.2028C>A	c.(2026-2028)agC>agA	p.S676R		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	676					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCAAAGGCTGGCTTGGTAGAG	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													58	60	60					11																	95825167		2196	4296	6492	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2028C>A	11.37:g.95825167G>T	ENSP00000434552:p.Ser676Arg		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S676R	ENST00000524717.1	37	c.2028	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	7.428	0.638181	0.14386	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.48201	0.82;0.82	5.54	3.66	0.41972	.	0.764818	0.12416	N	0.470872	T	0.32585	0.0834	L	0.40543	1.245	0.31117	N	0.709344	B	0.34015	0.435	B	0.24701	0.055	T	0.24190	-1.0167	10	0.15952	T	0.53	-4.0209	8.9818	0.35970	0.1759:0.0:0.8241:0.0	.	676	Q8IZL2	MAML2_HUMAN	R	676	ENSP00000434552:S676R;ENSP00000412394:S676R	ENSP00000412394:S676R	S	-	3	2	MAML2	95464815	0.303000	0.24463	0.923000	0.36655	0.040000	0.13550	0.371000	0.20450	1.333000	0.45449	0.655000	0.94253	AGC	MAML2	-	NULL		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95825167	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	missense	SNP	0.849	T	T	95825167	G	T	95825167	3	4	25	1	0	0	0	0	1	0	0	0	9229	1194	42	4	1458	4	MAML2	11	95825167	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	27121406	95825167	39181349	74	3833										
ZW10	9183	genome.wustl.edu	37	chr11	113631297	113631297	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	taatgcacaattatattcttCaatagcagtggaaaactgaa	6	6	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:113631297C>A	ENST00000200135.3	-	4	502	c.358G>T	c.(358-360)Gaa>Taa	p.E120*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	120	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTATATTCTTCAATAGCAGTG	0.363																																																	0													128	128	128					11																	113631297		2201	4296	6497	SO:0001587	stop_gained	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.358G>T	11.37:g.113631297C>A	ENSP00000200135:p.Glu120*		A1A528	Nonsense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.E120*	ENST00000200135.3	37	c.358	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940762	0.92526	.	.	ENSG00000086827	ENST00000200135	.	.	.	5.26	5.26	0.73747	.	0.045209	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-20.1179	9.011	0.36142	0.0:0.8992:0.0:0.1008	.	.	.	.	X	120	.	ENSP00000200135:E120X	E	-	1	0	ZW10	113136507	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.581000	0.46077	2.745000	0.94114	0.484000	0.47621	GAA	ZW10	-	pfam_RZZ-complex_Zw10		0.363	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	C	NM_004724		113631297	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	113631297	C	A	113631297	4	1	25	1	0	0	0	0	0	1	0	0	18277	835	29	3	2033	3	ZW10	11	113631297	Nonsense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	17806130	113631297	21375219	75	3834										
TAS2R46	259292	genome.wustl.edu	37	chr12	11214392	11214392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aaggtacattgcactcctcaGtttgatcttccaagtcatgt	7	10	3	1	rs200937291		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:11214392G>A	ENST00000533467.1	-	1	501	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	168					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCACTCCTCAGTTTGATCTTC	0.373																																																	0													155	158	157					12																	11214392		2192	4299	6491	SO:0001819	synonymous_variant	259292			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.502C>T	12.37:g.11214392G>A			P59548|Q645X6	Silent	SNP	pfam_TAS2_rcpt	p.L168	ENST00000533467.1	37	c.502	CCDS53748.1	12																																																																																			TAS2R46	-	pfam_TAS2_rcpt		0.373	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	G	NM_176887		11214392	-1	no_errors	ENST00000533467	ensembl	human	known	70_37	silent	SNP	0.000	A	A	11214392	G	A	11214392	2	1	25	1	0	0	0	0	0	0	0	1	15612	1020	36	4		4	TAS2R46	12	11214392	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		11214392	122637503	76	3835										
MLL2	8085	genome.wustl.edu	37	chr12	49425644	49425644	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ccggggtgggccctgaggtcGaggccctgcccctagctcct	15	16	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49425644G>A	ENST00000301067.7	-	39	12843	c.12844C>T	c.(12844-12846)Cga>Tga	p.R4282*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4282	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCTGAGGTCGAGGCCCTGCC	0.677																																																	0													36	40	39					12																	49425644		1916	4104	6020	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12844C>T	12.37:g.49425644G>A	ENSP00000301067:p.Arg4282*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4282*	ENST00000301067.7	37	c.12844	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	53	20.629566	0.99932	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.27	3.36	0.38483	.	0.000000	0.29806	N	0.011150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7105	0.08418	0.177:0.0:0.6101:0.213	.	.	.	.	X	4282	.	ENSP00000301067:R4282X	R	-	1	2	MLL2	47711911	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	1.449000	0.35123	1.376000	0.46267	0.655000	0.94253	CGA	MLL2	-	NULL		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49425644	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49425644	G	A	49425644	4	1	25	1	0	0	0	0	0	1	0	0	9644	1066	37	1	3833	1	MLL2	12	49425644	Nonsense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	38211252	49425644	84426251	77	3836										
MLL2	8085	genome.wustl.edu	37	chr12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ccgaggagtcaatgggggctGagcatatgggtcagtgtagg	18	6	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2380	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											26	31	29					12																	49434415		2037	4179	6216	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7138C>T	12.37:g.49434415G>A	ENSP00000301067:p.Gln2380*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2380*	ENST00000301067.7	37	c.7138	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.431137	0.99667	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2380	.	ENSP00000301067:Q2380X	Q	-	1	0	MLL2	47720682	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.607000	0.82883	2.596000	0.87737	0.591000	0.81541	CAG	MLL2	-	NULL		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49434415	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49434415	G	A	49434415	4	1	25	1	0	0	0	0	0	1	0	0	9644	1299	45	1	9571	1	MLL2	12	49434415	Nonsense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	8771	49434415	84417480	78	3837										
C1QL4	338761	genome.wustl.edu	37	chr12	49729936	49729936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcccgcgtagaaagcaatgcGaggcacgtagccggcagcgg	16	12	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49729936G>A	ENST00000334221.3	-	1	1035	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	109	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						AAAGCAATGCGAGGCACGTAG	0.731																																																	0													11	12	12					12																	49729936		2177	4262	6439	SO:0001583	missense	338761				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.325C>T	12.37:g.49729936G>A	ENSP00000335285:p.Arg109Cys			Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R109C	ENST00000334221.3	37	c.325	CCDS31793.1	12	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851387	0.51270	.	.	ENSG00000186897	ENST00000334221	T	0.25579	1.79	5.16	4.26	0.50523	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.574792	0.15493	N	0.259472	T	0.55768	0.1941	M	0.91717	3.235	0.48975	D	0.999733	D	0.89917	1.0	D	0.63488	0.915	T	0.62464	-0.6849	10	0.72032	D	0.01	.	11.481	0.50326	0.0:0.0:0.5517:0.4483	.	109	Q86Z23	C1QL4_HUMAN	C	109	ENSP00000335285:R109C	ENSP00000335285:R109C	R	-	1	0	C1QL4	48016203	0.997000	0.39634	0.905000	0.35620	0.013000	0.08279	2.247000	0.43151	1.164000	0.42652	-0.181000	0.13052	CGC	C1QL4	-	superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.731	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL4	HGNC	protein_coding	OTTHUMT00000404561.1	G	NM_001008223		49729936	-1	no_errors	ENST00000334221	ensembl	human	known	70_37	missense	SNP	0.995	A	A	49729936	G	A	49729936	3	1	25	1	0	0	0	0	1	0	0	0	1966	1058	37	1	399	1	C1QL4	12	49729936	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	295521	49729936	84121959	79	3838										
CMKLR1	1240	genome.wustl.edu	37	chr12	108685762	108685762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cgagagaagagggccaccttGaacttcttgaagtcctgacc	11	11	1	5			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:108685762G>C	ENST00000312143.7	-	3	1341	c.978C>G	c.(976-978)ttC>ttG	p.F326L	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F324L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F326L|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F324L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F326L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	326					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGGCCACCTTGAACTTCTTGA	0.507																																																	0													89	90	89					12																	108685762		1956	4157	6113	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.978C>G	12.37:g.108685762G>C	ENSP00000311733:p.Phe326Leu		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F326L	ENST00000312143.7	37	c.978	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	11.39	1.624745	0.28889	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.36	5.36	0.76844	.	0.116455	0.64402	D	0.000018	T	0.17238	0.0414	N	0.03238	-0.38	0.46798	D	0.999204	B	0.20887	0.049	B	0.25614	0.062	T	0.15752	-1.0426	10	0.17369	T	0.5	.	11.5418	0.50672	0.0815:0.0:0.9185:0.0	.	326	Q99788	CML1_HUMAN	L	326;326;324;324;326	ENSP00000311733:F326L;ENSP00000401293:F326L;ENSP00000380803:F324L;ENSP00000447579:F324L;ENSP00000449716:F326L	ENSP00000311733:F326L	F	-	3	2	CMKLR1	107209892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.864000	0.48404	2.499000	0.84300	0.556000	0.70494	TTC	CMKLR1	-	prints_Anphylx_rcpt		0.507	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685762	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108685762	G	C	108685762	3	2	25	1	0	0	0	0	1	0	0	0	3584	1281	45	1	147	1	CMKLR1	12	108685762	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	58955826	108685762	25166133	80	3839										
OAS2	4939	genome.wustl.edu	37	chr12	113442868	113442868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aaatcgtcaaggaaatccatGaacagctgaaagccttttgg	9	8	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:113442868G>A	ENST00000342315.4	+	7	1523	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.E437K	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	437	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAAATCCATGAACAGCTGAA	0.502																																					Pancreas(199;709 2232 18410 33584 35052)												0													79	73	75					12																	113442868		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1309G>A	12.37:g.113442868G>A	ENSP00000342278:p.Glu437Lys		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E437K	ENST00000342315.4	37	c.1309	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	0.065	-1.214641	0.01555	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.06371	3.31;3.31	4.11	-8.22	0.01037	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	2.344920	0.02196	N	0.061852	T	0.01421	0.0046	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.002	T	0.35051	-0.9804	10	0.02654	T	1	-1.1678	9.6983	0.40171	0.1783:0.3386:0.4831:0.0	.	437;437	P29728;P29728-2	OAS2_HUMAN;.	K	437	ENSP00000342278:E437K;ENSP00000376362:E437K	ENSP00000342278:E437K	E	+	1	0	OAS2	111927251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.501000	0.02281	-3.016000	0.00271	-1.650000	0.00758	GAA	OAS2	-	pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113442868	1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113442868	G	A	113442868	3	1	25	1	0	0	0	0	1	0	0	0	10824	1291	45	1	1406	1	OAS2	12	113442868	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	4757106	113442868	20409027	81	3840										
OAS2	4939	genome.wustl.edu	37	chr12	113442910	113442910	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gggagaaggaggaggagcttGaagtcagctttgagcctccc	16	8	1	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:113442910G>C	ENST00000342315.4	+	7	1565	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.E451Q	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	451	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGGAGCTTGAAGTCAGCTT	0.488																																					Pancreas(199;709 2232 18410 33584 35052)												0													77	69	72					12																	113442910		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1351G>C	12.37:g.113442910G>C	ENSP00000342278:p.Glu451Gln		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E451Q	ENST00000342315.4	37	c.1351	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	14.94	2.686666	0.47991	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08102	3.13;3.13	4.43	3.53	0.40419	.	1.034970	0.07766	U	0.950875	T	0.18467	0.0443	L	0.61387	1.9	0.19945	N	0.999948	D;D	0.54772	0.968;0.96	P;P	0.52909	0.713;0.643	T	0.14117	-1.0484	10	0.52906	T	0.07	-9.072	8.7192	0.34430	0.1062:0.0:0.8938:0.0	.	451;451	P29728;P29728-2	OAS2_HUMAN;.	Q	451	ENSP00000342278:E451Q;ENSP00000376362:E451Q	ENSP00000342278:E451Q	E	+	1	0	OAS2	111927293	0.017000	0.18338	0.002000	0.10522	0.013000	0.08279	0.838000	0.27572	1.209000	0.43321	0.655000	0.94253	GAA	OAS2	-	NULL		0.488	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113442910	1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.001	C	C	113442910	G	C	113442910	3	2	25	1	0	0	0	0	1	0	0	0	10824	1291	45	1	1448	1	OAS2	12	113442910	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	42	113442910	20408985	82	3841										
DNAH10	196385	genome.wustl.edu	37	chr12	124333419	124333419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgctctgatccatcagttaaCcacgttccaggtgagacaca	8	12	2	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:124333419C>A	ENST00000409039.3	+	33	5763	c.5738C>A	c.(5737-5739)aCc>aAc	p.T1913N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1913	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATCAGTTAACCACGTTCCAG	0.517																																																	0													85	84	84					12																	124333419		2106	4247	6353	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5738C>A	12.37:g.124333419C>A	ENSP00000386770:p.Thr1913Asn		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T1913N	ENST00000409039.3	37	c.5738	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449478	0.43531	.	.	ENSG00000197653	ENST00000409039	T	0.09163	3.01	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.451773	0.21078	U	0.080540	T	0.12390	0.0301	L	0.33710	1.025	0.34933	D	0.749506	B	0.23249	0.082	B	0.32022	0.139	T	0.11036	-1.0604	10	0.51188	T	0.08	.	14.4755	0.67544	0.2634:0.7366:0.0:0.0	.	1913	Q8IVF4	DYH10_HUMAN	N	1913	ENSP00000386770:T1913N	ENSP00000386770:T1913N	T	+	2	0	DNAH10	122899372	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	4.437000	0.59955	2.767000	0.95098	0.561000	0.74099	ACC	DNAH10	-	smart_AAA+_ATPase		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124333419	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124333419	C	A	124333419	3	1	25	1	0	0	0	0	1	0	0	0	4608	507	18	4	5868	4	DNAH10	12	124333419	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	10890509	124333419	9518476	83	3842										
NUPL1	9818	genome.wustl.edu	37	chr13	25889520	25889520	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggacagaatgctttagggttGactttgggaactacagcagc	13	7	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:25889520G>C	ENST00000381736.3	+	6	850	c.600G>C	c.(598-600)ttG>ttC	p.L200F	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.L200F|NUPL1_ENST00000381718.3_Missense_Mutation_p.L188F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	200	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTTTAGGGTTGACTTTGGGAA	0.373																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													283	305	298					13																	25889520		2203	4300	6503	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.600G>C	13.37:g.25889520G>C	ENSP00000371155:p.Leu200Phe		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.L200F	ENST00000381736.3	37	c.600	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746239	0.69418	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.54479	1.16;1.18;1.12;1.18;0.57	4.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.63428	1.95	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.69098	-0.5235	10	0.56958	D	0.05	-6.7145	12.5321	0.56122	0.0828:0.0:0.9172:0.0	.	188;200;200	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	F	200;188;177;200;188;200;147	ENSP00000371155:L200F;ENSP00000418555:L200F;ENSP00000371137:L188F;ENSP00000371166:L200F;ENSP00000408147:L147F	ENSP00000318459:L177F	L	+	3	2	NUPL1	24787520	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.320000	0.33666	2.452000	0.82932	0.557000	0.71058	TTG	NUPL1	-	NULL		0.373	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	G			25889520	1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25889520	G	C	25889520	3	2	25	1	0	0	0	0	1	0	0	0	10798	1281	45	1	622	1	NUPL1	13	25889520	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		25889520	89280358	84	3843										
PCDH17	27253	genome.wustl.edu	37	chr13	58208845	58208845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ctccatcatcctcctagcggCcatgatcaccatcgccgtca	6	18	3	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:58208845C>A	ENST00000377918.3	+	1	2191	c.2165C>A	c.(2164-2166)gCc>gAc	p.A722D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	722					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTCCTAGCGGCCATGATCACC	0.622																																					Melanoma(72;952 1291 1619 12849 33676)												0													78	76	76					13																	58208845		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2165C>A	13.37:g.58208845C>A	ENSP00000367151:p.Ala722Asp		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A722D	ENST00000377918.3	37	c.2165	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677543	0.68042	.	.	ENSG00000118946	ENST00000377918	T	0.55413	0.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.55990	1.75	0.80722	D	1	D;D	0.59767	0.977;0.986	P;P	0.61275	0.886;0.856	T	0.64748	-0.6334	9	.	.	.	.	18.8751	0.92331	0.0:1.0:0.0:0.0	.	722;722	O14917-2;O14917	.;PCD17_HUMAN	D	722	ENSP00000367151:A722D	.	A	+	2	0	PCDH17	57106846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.943000	0.63554	2.444000	0.82710	0.655000	0.94253	GCC	PCDH17	-	NULL		0.622	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208845	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58208845	C	A	58208845	3	1	25	1	0	0	0	0	1	0	0	0	11536	739	26	4	2167	4	PCDH17	13	58208845	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	32319325	58208845	56961033	85	3844										
IRS2	8660	genome.wustl.edu	37	chr13	110438357	110438357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgttgaggttggggccgtctCcgctcgccggcccgggcggc	18	14	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:110438357C>T	ENST00000375856.3	-	1	558	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	15					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGGCCGTCTCCGCTcgccgg	0.721																																					Melanoma(100;613 2409 40847)												0													2	2	2					13																	110438357		931	1497	2428	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.44G>A	13.37:g.110438357C>T	ENSP00000365016:p.Gly15Glu		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G15E	ENST00000375856.3	37	c.44	CCDS9510.1	13	.	.	.	.	.	.	.	.	.	.	c	4.517	0.095877	0.08681	.	.	ENSG00000185950	ENST00000375856	T	0.47869	0.83	2.12	2.12	0.27331	.	0.836696	0.10062	U	0.720833	T	0.28830	0.0715	N	0.19112	0.55	0.09310	N	1	B	0.28760	0.221	B	0.17979	0.02	T	0.15378	-1.0439	10	0.46703	T	0.11	.	6.533	0.22338	0.0:0.6936:0.3064:0.0	.	15	Q9Y4H2	IRS2_HUMAN	E	15	ENSP00000365016:G15E	ENSP00000365016:G15E	G	-	2	0	IRS2	109236358	0.011000	0.17503	0.303000	0.25071	0.203000	0.24098	-0.416000	0.07097	1.051000	0.40369	0.074000	0.15403	GGA	IRS2	-	NULL		0.721	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	C	NM_003749		110438357	-1	no_errors	ENST00000375856	ensembl	human	known	70_37	missense	SNP	0.171	T	T	110438357	C	T	110438357	3	4	25	1	0	0	0	0	1	0	0	0	7861	855	30	1	3980	1	IRS2	13	110438357	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	52229512	110438357	4731521	86	3845										
OR4K14	122740	genome.wustl.edu	37	chr14	20482425	20482425	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atggaaggctggatttcattGaaaagtcacccgtcggtttt	11	7	2	1	rs149149480	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:20482425G>A	ENST00000305045.2	-	1	927	c.928C>T	c.(928-930)Caa>Taa	p.Q310*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATTTCATTGAAAAGTCACC	0.358																																																	0													95	100	99					14																	20482425		2203	4300	6503	SO:0001587	stop_gained	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.928C>T	14.37:g.20482425G>A	ENSP00000305011:p.Gln310*		Q6IEU1|Q96R71	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q310*	ENST00000305045.2	37	c.928	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722927	0.30503	.	.	ENSG00000169484	ENST00000305045	.	.	.	3.83	3.83	0.44106	.	1.854210	0.03337	U	0.194260	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.7521	0.23493	0.0:0.1936:0.6071:0.1993	.	.	.	.	X	310	.	ENSP00000305011:Q310X	Q	-	1	0	OR4K14	19552265	0.028000	0.19301	0.849000	0.33467	0.040000	0.13550	0.679000	0.25291	1.975000	0.57531	0.505000	0.49811	CAA	OR4K14	-	NULL		0.358	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	G			20482425	-1	no_errors	ENST00000305045	ensembl	human	known	70_37	nonsense	SNP	0.068	A	A	20482425	G	A	20482425	4	1	25	1	0	0	0	0	0	1	0	0	11093	1299	45	1	7	1	OR4K14	14	20482425	Nonsense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		20482425	86867115	87	3846										
PRMT5	10419	genome.wustl.edu	37	chr14	23394235	23394235	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggttggtgcctgtgatgatGaactgcacctccaactgtga	12	9	0	4			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:23394235G>A	ENST00000324366.8	-	8	1015	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Silent_p.F93F|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Silent_p.F247F|PRMT5_ENST00000538452.1_Silent_p.F158F|PRMT5_ENST00000216350.8_Silent_p.F203F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Silent_p.F220F|PRMT5-AS1_ENST00000457443.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	264	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTGTGATGATGAACTGCACCT	0.473																																																	0													172	166	168					14																	23394235		2203	4300	6503	SO:0001819	synonymous_variant	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.792C>T	14.37:g.23394235G>A			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.F264	ENST00000324366.8	37	c.792	CCDS9579.1	14																																																																																			PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	G			23394235	-1	no_errors	ENST00000324366	ensembl	human	known	70_37	silent	SNP	1.000	A	A	23394235	G	A	23394235	2	1	25	1	0	0	0	0	0	0	0	1	12566	1281	45	1		1	PRMT5	14	23394235	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	2911810	23394235	83955305	88	3847										
CTAGE5	4253	genome.wustl.edu	37	chr14	39764153	39764153	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aaatgaccttcaagatatttCaaatgaatgaagaacgactg	7	6	2	5			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:39764153C>G	ENST00000280083.3	+	8	906	c.592C>G	c.(592-594)Caa>Gaa	p.Q198E	RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.Q169E|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.Q733E|CTAGE5_ENST00000348007.3_Missense_Mutation_p.Q198E|CTAGE5_ENST00000341749.3_Missense_Mutation_p.Q186E|CTAGE5_ENST00000396158.2_Missense_Mutation_p.Q203E|CTAGE5_ENST00000396165.4_Missense_Mutation_p.Q169E|CTAGE5_ENST00000553352.1_Missense_Mutation_p.Q169E|CTAGE5_ENST00000341502.5_Missense_Mutation_p.Q198E|CTAGE5_ENST00000556148.1_Missense_Mutation_p.Q123E|CTAGE5_ENST00000557038.1_Missense_Mutation_p.Q118E			O15320	CTGE5_HUMAN	CTAGE family, member 5	198				Q -> P (in Ref. 1; AAB86593). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAAGATATTTCAAATGAATGA	0.338																																																	0													94	98	96					14																	39764153		2203	4300	6503	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.592C>G	14.37:g.39764153C>G	ENSP00000280083:p.Gln198Glu		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.Q203E	ENST00000280083.3	37	c.607	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861819	0.17178	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.74737	1.24;-0.87;1.24;-0.87;-0.87;1.24;-0.87;1.24;-0.87;-0.87	5.69	2.64	0.31445	.	0.280522	0.19174	N	0.120867	T	0.62527	0.2435	L	0.42632	1.34	0.25104	N	0.990761	B;B;B;B;B;B	0.14012	0.009;0.005;0.001;0.005;0.0;0.003	B;B;B;B;B;B	0.17098	0.017;0.012;0.012;0.012;0.012;0.012	T	0.48969	-0.8987	9	.	.	.	.	7.9806	0.30181	0.2896:0.4104:0.3001:0.0	.	160;203;198;198;169;186	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	E	733;186;118;160;169;198;203;198;123;198;169	ENSP00000452252:Q733E;ENSP00000343897:Q186E;ENSP00000450869:Q118E;ENSP00000379468:Q169E;ENSP00000339286:Q198E;ENSP00000379462:Q203E;ENSP00000280083:Q198E;ENSP00000452562:Q123E;ENSP00000343912:Q198E;ENSP00000450449:Q169E	.	Q	+	1	0	CTAGE5;RP11-407N17.3	38833904	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	0.585000	0.23879	0.701000	0.31803	0.557000	0.71058	CAA	CTAGE5	-	NULL		0.338	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39764153	1	no_errors	ENST00000396158	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39764153	C	G	39764153	3	3	25	1	0	0	0	0	1	0	0	0	3999	827	29	1	653	1	CTAGE5	14	39764153	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	16369918	39764153	67585387	89	3848										
DACT1	51339	genome.wustl.edu	37	chr14	59113479	59113479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cgcgcctgtgcctctgccctAcgccagcccctacgcctacg	9	21	1	0	rs368345387		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:59113479A>G	ENST00000335867.4	+	4	2162	c.2138A>G	c.(2137-2139)tAc>tGc	p.Y713C	DACT1_ENST00000395153.3_Missense_Mutation_p.Y676C|DACT1_ENST00000541264.2_Missense_Mutation_p.Y432C|DACT1_ENST00000556859.1_Missense_Mutation_p.Y432C			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTCTGCCCTACGCCAGCCCC	0.672													A|||	1	0.000199681	8e-04	0	5008	,	,		1222	0		0	False		,,,				2504	0																0								A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	33	36	35		2027,2138	3.1	0.1	14		35	0,8600		0,0,4300	no	missense,missense	DACT1	NM_001079520.1,NM_016651.5	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	676/800,713/837	59113479	1,13005	2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2138A>G	14.37:g.59113479A>G	ENSP00000337439:p.Tyr713Cys		A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.Y713C	ENST00000335867.4	37	c.2138	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574573	0.28092	2.27E-4	0.0	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.63	3.08	0.35506	.	0.484672	0.21597	N	0.072013	T	0.59059	0.2166	M	0.68317	2.08	0.18873	N	0.999986	D;D	0.76494	0.998;0.999	P;P	0.61592	0.891;0.891	T	0.49360	-0.8948	10	0.59425	D	0.04	-10.2123	8.4627	0.32938	0.7334:0.1364:0.0:0.1303	.	676;713	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	C	432;432;676;713;432	ENSP00000451598:Y432C;ENSP00000378581:Y432C;ENSP00000378582:Y676C;ENSP00000337439:Y713C;ENSP00000442850:Y432C	ENSP00000337439:Y713C	Y	+	2	0	DACT1	58183232	0.050000	0.20438	0.051000	0.19133	0.167000	0.22549	1.476000	0.35420	0.926000	0.37118	0.460000	0.39030	TAC	DACT1	-	NULL		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	A	NM_016651		59113479	1	no_errors	ENST00000335867	ensembl	human	known	70_37	missense	SNP	0.012	G	G	59113479	A	G	59113479	3	3	25	1	0	0	0	0	1	0	0	0	4227	391	14	5	2152	5	DACT1	14	59113479	Missense_Mutation	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08	19349326	59113479	48236061	90	3849										
ZNF839	55778	genome.wustl.edu	37	chr14	102793113	102793113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	agcaccctccgggggtgcacGgaggaaaggacgctcagcct	15	13	1	0	rs375280717		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:102793113G>A	ENST00000558850.1	+	2	1082	c.732G>A	c.(730-732)acG>acA	p.T244T	ZNF839_ENST00000442396.2_Silent_p.T360T|ZNF839_ENST00000559185.1_Silent_p.T244T|ZNF839_ENST00000262236.5_Silent_p.T244T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	244							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGGGTGCACGGAGGAAAGGA	0.632																																																	0								G		1,3955		0,1,1977	19	20	20		1080	-1.5	0	14		20	0,8316		0,0,4158	no	coding-synonymous	ZNF839	NM_018335.3		0,1,6135	AA,AG,GG		0.0,0.0253,0.0081		360/928	102793113	1,12271	1978	4158	6136	SO:0001819	synonymous_variant	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.732G>A	14.37:g.102793113G>A			B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	pfscan_Znf_C2H2	p.T360	ENST00000558850.1	37	c.1080	CCDS58336.1	14																																																																																			ZNF839	-	NULL		0.632	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	G	NM_018335		102793113	1	no_errors	ENST00000442396	ensembl	human	known	70_37	silent	SNP	0.002	A	A	102793113	G	A	102793113	2	1	25	1	0	0	0	0	0	0	0	1	18218	1103	39	2		2	ZNF839	14	102793113	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	43679634	102793113	4556427	91	3850										
C15orf2	23742	genome.wustl.edu	37	chr15	24923096	24923096	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcatcatcatccaaacctccCattgaaaccaatgctatgca	4	14	2	1	rs372332991		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:24923096C>A	ENST00000329468.2	+	1	2556	c.2082C>A	c.(2080-2082)ccC>ccA	p.P694P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	694					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCAAACCTCCCATTGAAACCA	0.507																																																	0													200	180	187					15																	24923096		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2082C>A	15.37:g.24923096C>A				Silent	SNP	NULL	p.P694	ENST00000329468.2	37	c.2082	CCDS10015.1	15																																																																																			NPAP1	-	NULL		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24923096	1	no_errors	ENST00000329468	ensembl	human	known	70_37	silent	SNP	0.000	A	A	24923096	C	A	24923096	2	1	25	1	0	0	0	0	0	0	0	1	1788	581	21	4		4	C15orf2	15	24923096	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		24923096	77608296	92	3851										
HERC2	8924	genome.wustl.edu	37	chr15	28566548	28566548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atttggagtcgaggcgagccTgggcagccaaacagaaagat	14	8	0	2	rs201990459		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:28566548T>C	ENST00000261609.7	-	2	140	c.32A>G	c.(31-33)cAg>cGg	p.Q11R	HERC2_ENST00000563945.1_5'UTR	NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGGCGAGCCTGGGCAGCCAA	0.463																																																	0													7	11	9					15																	28566548		1064	2127	3191	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.32A>G	15.37:g.28566548T>C	ENSP00000261609:p.Gln11Arg			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q11R	ENST00000261609.7	37	c.32	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166421	0.78339	.	.	ENSG00000128731	ENST00000261609	T	0.39056	1.1	4.31	4.31	0.51392	.	0.000000	0.56097	U	0.000022	T	0.37348	0.1000	L	0.47716	1.5	0.44207	D	0.997032	D	0.53885	0.963	P	0.44359	0.447	T	0.17048	-1.0382	10	0.41790	T	0.15	.	9.9302	0.41517	0.0:0.0:0.0:1.0	.	11	O95714	HERC2_HUMAN	R	11	ENSP00000261609:Q11R	ENSP00000261609:Q11R	Q	-	2	0	HERC2	26240143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.473000	0.53122	1.587000	0.49959	0.369000	0.22263	CAG	HERC2	-	NULL		0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28566548	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28566548	T	C	28566548	3	2	25	1	0	0	0	0	1	0	0	0	7078	1580	55	5	14840	5	HERC2	15	28566548	Missense_Mutation	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08	3643452	28566548	73964844	93	3852										
VPS13C	54832	genome.wustl.edu	37	chr15	62223419	62223419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aagatgtagtctgagttcacCaagttggaaactgtcattat	9	6	3	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:62223419C>A	ENST00000261517.5	-	50	5981	c.5908G>T	c.(5908-5910)Ggt>Tgt	p.G1970C	VPS13C_ENST00000395896.4_Missense_Mutation_p.G1970C|VPS13C_ENST00000395898.3_Missense_Mutation_p.G1927C|VPS13C_ENST00000249837.3_Missense_Mutation_p.G1927C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGAGTTCACCAAGTTGGAAA	0.348																																																	0													102	87	92					15																	62223419		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5908G>T	15.37:g.62223419C>A	ENSP00000261517:p.Gly1970Cys			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.G1970C	ENST00000261517.5	37	c.5908	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510641	0.85389	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45668	0.89;0.89;1.06	5.41	5.41	0.78517	.	0.108241	0.64402	D	0.000008	T	0.66416	0.2787	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.984;1.0	D;D;P;D	0.83275	0.987;0.996;0.879;0.99	T	0.68697	-0.5340	10	0.87932	D	0	.	19.5729	0.95428	0.0:1.0:0.0:0.0	.	1927;1970;1927;1970	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	1927;1970;1970;1970	ENSP00000249837:G1927C;ENSP00000261517:G1970C;ENSP00000379233:G1970C	ENSP00000249837:G1927C	G	-	1	0	VPS13C	60010711	1.000000	0.71417	0.849000	0.33467	0.961000	0.63080	6.535000	0.73838	2.684000	0.91462	0.650000	0.86243	GGT	VPS13C	-	NULL		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62223419	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	0.990	A	A	62223419	C	A	62223419	3	1	25	1	0	0	0	0	1	0	0	0	17222	594	21	4	5525	4	VPS13C	15	62223419	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	33656871	62223419	40307973	94	3853										
NEO1	4756	genome.wustl.edu	37	chr15	73552728	73552728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggtcagaggttacgccattGgttatggcattggcagccct	13	9	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:73552728G>T	ENST00000339362.5	+	16	2767	c.2320G>T	c.(2320-2322)Ggt>Tgt	p.G774C	NEO1_ENST00000560262.1_Missense_Mutation_p.G774C|NEO1_ENST00000261908.6_Missense_Mutation_p.G774C|NEO1_ENST00000558964.1_Missense_Mutation_p.G774C			Q92859	NEO1_HUMAN	neogenin 1	774	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTACGCCATTGGTTATGGCAT	0.478																																																	0													121	102	108					15																	73552728		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2320G>T	15.37:g.73552728G>T	ENSP00000341198:p.Gly774Cys		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G774C	ENST00000339362.5	37	c.2320	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419624	0.83559	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.56941	0.43;0.43	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.091678	0.85682	D	0.000000	T	0.79287	0.4420	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82678	-0.0338	10	0.51188	T	0.08	-18.8047	19.1117	0.93318	0.0:0.0:1.0:0.0	.	774;774;512;774	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	774;512;774	ENSP00000341198:G774C;ENSP00000261908:G774C	ENSP00000261908:G774C	G	+	1	0	NEO1	71339781	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.688000	0.74557	2.593000	0.87608	0.655000	0.94253	GGT	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	G	NM_002499		73552728	1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73552728	G	T	73552728	3	4	25	1	0	0	0	0	1	0	0	0	10360	1348	47	4	2378	4	NEO1	15	73552728	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	11329309	73552728	28978664	95	3854										
CHRNA5	1138	genome.wustl.edu	37	chr15	78882973	78882973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tcatgaaggaaaatgatgtcCgtgaggtctgtgatgtgtat	13	4	2	4	rs200127699		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:78882973C>A	ENST00000299565.5	+	5	1440	c.1240C>A	c.(1240-1242)Cgt>Agt	p.R414S	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	414					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AAATGATGTCCGTGAGGTCTG	0.383																																																	0													49	47	48					15																	78882973		2191	4291	6482	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1240C>A	15.37:g.78882973C>A	ENSP00000299565:p.Arg414Ser		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R414S	ENST00000299565.5	37	c.1240	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450691	0.26074	.	.	ENSG00000169684	ENST00000299565	D	0.85088	-1.94	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.706306	0.14406	N	0.321592	T	0.79185	0.4403	L	0.33624	1.015	0.80722	D	1	B	0.22276	0.067	B	0.23574	0.047	T	0.72207	-0.4360	10	0.10111	T	0.7	.	18.2639	0.90046	0.0:1.0:0.0:0.0	.	414	P30532	ACHA5_HUMAN	S	414	ENSP00000299565:R414S	ENSP00000299565:R414S	R	+	1	0	CHRNA5	76670028	1.000000	0.71417	0.507000	0.27676	0.556000	0.35491	4.909000	0.63314	2.382000	0.81193	0.558000	0.71614	CGT	CHRNA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.383	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	C			78882973	1	no_errors	ENST00000299565	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78882973	C	A	78882973	3	1	25	1	0	0	0	0	1	0	0	0	3391	652	23	2	1258	2	CHRNA5	15	78882973	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	5330245	78882973	23648419	96	3855										
MFGE8	4240	genome.wustl.edu	37	chr15	89450573	89450573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcgatctgtgagttggcaatGttcccattctccaggcccag	11	12	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:89450573G>A	ENST00000566497.1	-	3	301	c.240C>T	c.(238-240)aaC>aaT	p.N80N	MFGE8_ENST00000542878.1_Silent_p.N36N|MFGE8_ENST00000268151.7_Silent_p.N80N|MFGE8_ENST00000539437.1_Silent_p.N72N|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268150.8_Silent_p.N80N			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	80	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTGGCAATGTTCCCATTCT	0.642																																																	0													120	87	98					15																	89450573		2200	4299	6499	SO:0001819	synonymous_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.240C>T	15.37:g.89450573G>A			B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N80	ENST00000566497.1	37	c.240	CCDS10347.1	15																																																																																			MFGE8	-	superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.642	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1	G	NM_005928		89450573	-1	no_errors	ENST00000268150	ensembl	human	known	70_37	silent	SNP	0.922	A	A	89450573	G	A	89450573	2	1	25	1	0	0	0	0	0	0	0	1	9543	1368	48	4		4	MFGE8	15	89450573	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	10567600	89450573	13080819	97	3856										
POLG	5428	genome.wustl.edu	37	chr15	89864064	89864064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgcctcctgctgtgtgagccGgtggttaaactgcattagta	12	9	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:89864064G>T	ENST00000268124.5	-	18	3247	c.2914C>A	c.(2914-2916)Cgg>Agg	p.R972R	POLG_ENST00000442287.2_Silent_p.R972R	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	972					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGTGTGAGCCGGTGGTTAAAC	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0													71	59	63					15																	89864064		2200	4299	6499	SO:0001819	synonymous_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2914C>A	15.37:g.89864064G>T			Q8NFM2|Q92515	Silent	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.R972	ENST00000268124.5	37	c.2914	CCDS10350.1	15																																																																																			POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	G	NM_002693		89864064	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	silent	SNP	1.000	T	T	89864064	G	T	89864064	2	4	25	1	0	0	0	0	0	0	0	1	12224	1115	39	2		2	POLG	15	89864064	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	413491	89864064	12667328	98	3857										
ZNF213	7760	genome.wustl.edu	37	chr16	3187585	3187585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cagtgctgccaggggagatcCagggctgggtgcgtgagcag	19	9	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:3187585C>A	ENST00000396878.3	+	2	779	c.304C>A	c.(304-306)Cag>Aag	p.Q102K	RP11-473M20.14_ENST00000576590.1_RNA|ZNF213_ENST00000576416.1_Missense_Mutation_p.Q102K|RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q102K|RP11-473M20.14_ENST00000571963.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	102	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGGGAGATCCAGGGCTGGGT	0.657																																																	0													34	36	36					16																	3187585		2197	4300	6497	SO:0001583	missense	7760			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.304C>A	16.37:g.3187585C>A	ENSP00000380087:p.Gln102Lys		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q102K	ENST00000396878.3	37	c.304	CCDS10495.1	16	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532412	0.45073	.	.	ENSG00000085644	ENST00000396878	T	0.04758	3.56	5.02	5.02	0.67125	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43579	D	0.000549	T	0.25791	0.0628	M	0.86651	2.83	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.03086	-1.1074	10	0.66056	D	0.02	.	15.8423	0.78857	0.0:1.0:0.0:0.0	.	102	O14771	ZN213_HUMAN	K	102	ENSP00000380087:Q102K	ENSP00000380087:Q102K	Q	+	1	0	ZNF213	3127586	0.659000	0.27411	0.864000	0.33941	0.279000	0.26890	2.005000	0.40864	2.341000	0.79615	0.655000	0.94253	CAG	ZNF213	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.657	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	HGNC	protein_coding	OTTHUMT00000437334.1	C	NM_004220		3187585	1	no_errors	ENST00000396878	ensembl	human	known	70_37	missense	SNP	0.739	A	A	3187585	C	A	3187585	3	1	25	1	0	0	0	0	1	0	0	0	17799	595	21	4	306	4	ZNF213	16	3187585	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		3187585	87167168	99	3858										
POLR3E	55718	genome.wustl.edu	37	chr16	22334233	22334233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cgtgcctgctgaggtgctctGcaggggccgagacttcgttg	16	11	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:22334233G>T	ENST00000299853.5	+	14	1216	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F	POLR3E_ENST00000564209.1_Missense_Mutation_p.C350F|POLR3E_ENST00000359210.4_Missense_Mutation_p.C350F|POLR3E_ENST00000418581.2_Missense_Mutation_p.C314F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	350					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GAGGTGCTCTGCAGGGGCCGA	0.637																																																	0													59	48	51					16																	22334233		2197	4300	6497	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1049G>T	16.37:g.22334233G>T	ENSP00000299853:p.Cys350Phe		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.C350F	ENST00000299853.5	37	c.1049	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739316	0.89573	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.43688	0.94;0.94;0.94	5.43	5.43	0.79202	.	0.044202	0.85682	D	0.000000	T	0.68504	0.3008	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.81914	0.993;0.978;0.995;0.988;0.995;0.988	T	0.72743	-0.4201	10	0.87932	D	0	-19.0869	19.2357	0.93858	0.0:0.0:1.0:0.0	.	294;314;350;350;350;350	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	F	350;350;314	ENSP00000299853:C350F;ENSP00000352140:C350F;ENSP00000399254:C314F	ENSP00000299853:C350F	C	+	2	0	POLR3E	22241734	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.331000	0.96430	2.550000	0.86006	0.655000	0.94253	TGC	POLR3E	-	pfam_RNA_pol_III_Rpc5		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22334233	1	no_errors	ENST00000299853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22334233	G	T	22334233	3	4	25	1	0	0	0	0	1	0	0	0	12256	1319	46	4	1099	4	POLR3E	16	22334233	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	19146648	22334233	68020520	100	3859										
HIRIP3	8479	genome.wustl.edu	37	chr16	30005773	30005773	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgctctttcttctgggctagGatctcctcttcactctcctg	7	14	7	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:30005773G>T	ENST00000279392.3	-	4	1523	c.693C>A	c.(691-693)atC>atA	p.I231I	HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000566471.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	231	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTGGGCTAGGATCTCCTCTT	0.498																																																	0													198	184	189					16																	30005773		2197	4300	6497	SO:0001819	synonymous_variant	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.693C>A	16.37:g.30005773G>T			H3BSR3|O75707|O75708	Silent	SNP	pfam_Histone_chaperone_domain_CHZ	p.I231	ENST00000279392.3	37	c.693	CCDS10664.1	16																																																																																			HIRIP3	-	NULL		0.498	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2	G	NM_003609		30005773	-1	no_errors	ENST00000279392	ensembl	human	known	70_37	silent	SNP	0.001	T	T	30005773	G	T	30005773	2	4	25	1	0	0	0	0	0	0	0	1	7141	1164	41	3		3	HIRIP3	16	30005773	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	7671540	30005773	60348980	101	3860										
FUS	2521	genome.wustl.edu	37	chr16	31201644	31201644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggtggcagtggtggtggtgGccgaggaggatttcccagtg	20	6	0	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:31201644G>T	ENST00000254108.7	+	12	1322	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.G407V|FUS_ENST00000380244.3_Missense_Mutation_p.G405V	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	406	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggtggccgaggagga	0.537			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																			Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													152	109	124					16																	31201644		2197	4300	6497	SO:0001583	missense	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1217G>T	16.37:g.31201644G>T	ENSP00000254108:p.Gly406Val		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G406V	ENST00000254108.7	37	c.1217	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158801	0.38119	.	.	ENSG00000089280	ENST00000254108;ENST00000380244;ENST00000394533	D	0.97209	-4.29	5.31	4.35	0.52113	.	0.453384	0.22649	N	0.057342	D	0.94434	0.8209	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.31680	0.335;0.321;0.115;0.184;0.321;0.115	B;B;B;B;B;B	0.31812	0.133;0.136;0.062;0.131;0.136;0.062	D	0.92764	0.6226	10	0.42905	T	0.14	-7.5051	14.3001	0.66341	0.0:0.0:0.85:0.15	.	405;406;406;405;180;406	A8K4H1;Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;.;FUS_HUMAN	V	406;133;335	ENSP00000254108:G406V	ENSP00000254108:G406V	G	+	2	0	FUS	31109145	1.000000	0.71417	0.982000	0.44146	0.253000	0.25986	9.102000	0.94226	1.218000	0.43458	-0.169000	0.13324	GGC	FUS	-	NULL		0.537	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	G	NM_004960		31201644	1	no_errors	ENST00000254108	ensembl	human	known	70_37	missense	SNP	0.998	T	T	31201644	G	T	31201644	3	4	25	1	0	0	0	0	1	0	0	0	6118	1203	42	4	1263	4	FUS	16	31201644	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	1195871	31201644	59153109	102	3861										
SMG6	23293	genome.wustl.edu	37	chr17	2139835	2139835	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atattgatggtcataagctgCagcatgcgggtacttccaat	10	8	1	1	rs151227752		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:2139835C>G	ENST00000263073.6	-	10	2870	c.2820G>C	c.(2818-2820)ctG>ctC	p.L940L	SMG6_ENST00000354901.4_Silent_p.L32L|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L32L|SMG6_ENST00000544865.1_Silent_p.L909L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	940					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATAAGCTGCAGCATGCGGG	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													170	146	154					17																	2139835		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2820G>C	17.37:g.2139835C>G			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.L940	ENST00000263073.6	37	c.2820	CCDS11016.1	17																																																																																			SMG6	-	NULL		0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2139835	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	silent	SNP	0.994	G	G	2139835	C	G	2139835	2	3	25	1	0	0	0	0	0	0	0	1	14827	697	25	4		4	SMG6	17	2139835	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		2139835	79055375	103	3862										
MNT	4335	genome.wustl.edu	37	chr17	2290273	2290273	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ttgagcacggtctggcccacCagctgggggtggtgcaccac	15	13	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:2290273C>A	ENST00000174618.4	-	6	2076	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'Flank	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	557					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TCTGGCCCACCAGCTGGGGGT	0.672																																																	0													27	24	25					17																	2290273		2192	4290	6482	SO:0001819	synonymous_variant	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1671G>T	17.37:g.2290273C>A			A8K6D1|D3DTI7|Q1ED38	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L557	ENST00000174618.4	37	c.1671	CCDS11018.1	17																																																																																			MNT	-	NULL		0.672	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	C	NM_020310		2290273	-1	no_errors	ENST00000174618	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2290273	C	A	2290273	2	1	25	1	0	0	0	0	0	0	0	1	9701	581	21	4		4	MNT	17	2290273	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	150438	2290273	78904937	104	3863										
DNAH2	146754	genome.wustl.edu	37	chr17	7721995	7721995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gctgctgggcattgtggtgcGgaaggagcggcctgagctgg	20	8	0	1	rs116984006	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:7721995G>T	ENST00000572933.1	+	70	12031	c.10571G>T	c.(10570-10572)cGg>cTg	p.R3524L	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3524L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3524	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGTGGTGCGGAAGGAGCGG	0.597																																																	0													113	103	106					17																	7721995		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10571G>T	17.37:g.7721995G>T	ENSP00000458355:p.Arg3524Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R3524L	ENST00000572933.1	37	c.10571	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.941002	0.73557	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21361	2.01	4.34	3.36	0.38483	.	0.000000	0.64402	D	0.000001	T	0.30293	0.0760	L	0.49571	1.57	0.80722	D	1	P;D	0.53312	0.893;0.959	P;P	0.55161	0.66;0.77	T	0.02352	-1.1172	10	0.22706	T	0.39	.	13.1096	0.59267	0.0:0.1628:0.8372:0.0	.	3485;3524	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3485;3524	ENSP00000373825:R3524L	ENSP00000353818:R3485L	R	+	2	0	DNAH2	7662720	0.817000	0.29147	0.827000	0.32855	0.831000	0.47069	2.843000	0.48238	1.010000	0.39314	0.563000	0.77884	CGG	DNAH2	-	NULL		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7721995	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.705	T	T	7721995	G	T	7721995	3	4	25	1	0	0	0	0	1	0	0	0	4612	1116	39	2	10845	2	DNAH2	17	7721995	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	5431722	7721995	73473215	105	3864										
MFAP4	4239	genome.wustl.edu	37	chr17	19288463	19288463	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gagggtgtagccatcctcctCtgcgctgaccgcgttcgggg	15	13	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:19288463C>T	ENST00000299610.4	-	5	553	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_Missense_Mutation_p.E181K|MFAP4_ENST00000497081.2_Missense_Mutation_p.E182K	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	157	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCATCCTCCTCTGCGCTGACC	0.572																																																	0													153	117	129					17																	19288463		2203	4300	6503	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.469G>A	17.37:g.19288463C>T	ENSP00000299610:p.Glu157Lys		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E181K	ENST00000299610.4	37	c.541	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	c	25.6	4.651530	0.88056	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.26518	1.73;1.73	5.0	5.0	0.66597	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.57007	0.2024	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64504	-0.6392	10	0.87932	D	0	.	15.8955	0.79329	0.0:1.0:0.0:0.0	.	157;181	P55083;A8MVM2	MFAP4_HUMAN;.	K	181;157	ENSP00000378957:E181K;ENSP00000299610:E157K	ENSP00000299610:E157K	E	-	1	0	MFAP4	19229056	1.000000	0.71417	0.804000	0.32291	0.529000	0.34654	7.151000	0.77411	2.611000	0.88343	0.550000	0.68814	GAG	MFAP4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.572	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19288463	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.995	T	T	19288463	C	T	19288463	3	4	25	1	0	0	0	0	1	0	0	0	9540	922	32	1	306	1	MFAP4	17	19288463	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	11566468	19288463	61906747	106	3865										
DNAI2	64446	genome.wustl.edu	37	chr17	72308359	72308359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggcagacgccataaagctgaCgccagtgcctgtaggggcct	14	12	0	2	rs373090022	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:72308359C>T	ENST00000311014.6	+	12	1779	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M	DNAI2_ENST00000579490.1_Missense_Mutation_p.T628M|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Missense_Mutation_p.T571M|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.T559M			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	571					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATAAAGCTGACGCCAGTGCCT	0.612									Kartagener syndrome				C|||	3	0.000599042	0	0	5008	,	,		15531	0		0	False		,,,				2504	0.0031																0								C	MET/THR,MET/THR	0,4404		0,0,2202	33	26	28		1676,1712	2.5	0.2	17		28	1,8597		0,1,4298	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	81,81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	559/594,571/606	72308359	1,13001	2202	4299	6501	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1712C>T	17.37:g.72308359C>T	ENSP00000308312:p.Thr571Met		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.T571M	ENST00000311014.6	37	c.1712	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	C	2.427	-0.331760	0.05314	0.0	1.16E-4	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.66460	-0.21;-0.21	4.71	2.45	0.29901	.	2.794930	0.01504	N	0.017633	T	0.49287	0.1548	N	0.22421	0.69	0.09310	N	1	P	0.34892	0.474	B	0.23018	0.043	T	0.45804	-0.9236	10	0.48119	T	0.1	0.8194	4.3621	0.11208	0.6837:0.2105:0.1057:0.0	.	571	Q9GZS0	DNAI2_HUMAN	M	571	ENSP00000308312:T571M;ENSP00000400252:T571M	ENSP00000308312:T571M	T	+	2	0	DNAI2	69819954	0.393000	0.25237	0.169000	0.22859	0.011000	0.07611	0.880000	0.28159	0.676000	0.31285	-0.425000	0.05940	ACG	DNAI2	-	NULL		0.612	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	C	NM_023036		72308359	1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.028	T	T	72308359	C	T	72308359	3	4	25	1	0	0	0	0	1	0	0	0	4620	536	19	2	1754	2	DNAI2	17	72308359	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	53019896	72308359	8886851	107	3866										
QRICH2	84074	genome.wustl.edu	37	chr17	74288517	74288517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	aaccatgctgatctgcaccaGgttggaccaaaccacgctga	9	13	1	2	rs375649463		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:74288517G>T	ENST00000262765.5	-	4	1972	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	598	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ATCTGCACCAGGTTGGACCAA	0.532																																																	0													170	136	147					17																	74288517		2203	4300	6503	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1793C>A	17.37:g.74288517G>T	ENSP00000262765:p.Pro598His		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.P598H	ENST00000262765.5	37	c.1793	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488158	0.26686	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.24908	1.83	4.82	4.82	0.62117	.	.	.	.	.	T	0.54515	0.1863	M	0.80422	2.495	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.943;0.999	T	0.50145	-0.8862	9	0.72032	D	0.01	-4.9374	15.3788	0.74637	0.0:0.0:1.0:0.0	.	598;598	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	598	ENSP00000262765:P598H	ENSP00000262765:P598H	P	-	2	0	QRICH2	71800112	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.304000	0.08199	2.177000	0.69029	0.557000	0.71058	CCT	QRICH2	-	NULL		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74288517	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.004	T	T	74288517	G	T	74288517	3	4	25	1	0	0	0	0	1	0	0	0	12910	1000	35	4	3262	4	QRICH2	17	74288517	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	1980158	74288517	6906693	108	3867										
C17orf62	79415	genome.wustl.edu	37	chr17	80402346	80402346	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cggtggcccatgactgcactCtgcgtgagggggtgggagaa	18	9	1	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:80402346C>G	ENST00000437807.2	-	7	737	c.420G>C	c.(418-420)caG>caC	p.Q140H	C17orf62_ENST00000577732.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000578913.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000583617.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000585080.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000342572.8_Missense_Mutation_p.Q16H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.Q140H|C17orf62_ENST00000434650.2_Missense_Mutation_p.Q126H|C17orf62_ENST00000585064.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000577436.1_Missense_Mutation_p.Q126H|C17orf62_ENST00000578919.1_Missense_Mutation_p.Q140H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGACTGCACTCTGCGTGAGGG	0.622																																																	0													112	89	97					17																	80402346		2203	4300	6503	SO:0001583	missense	79415			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.420G>C	17.37:g.80402346C>G	ENSP00000388909:p.Gln140His		E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.Q140H	ENST00000437807.2	37	c.420	CCDS32776.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.54|18.54	3.646873|3.646873	0.67358|0.67358	.|.	.|.	ENSG00000178927|ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650|ENST00000342572	.|.	.|.	.|.	4.84|4.84	3.85|3.85	0.44370|0.44370	.|.	.|.	.|.	.|.	.|.	T|T	0.72342|0.72342	0.3448|0.3448	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.85130|.	0.995;0.997|.	T|T	0.76302|0.76302	-0.3009|-0.3009	8|6	0.72032|0.87932	D|D	0.01|0	.|.	12.5615|12.5615	0.56283|0.56283	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	126;140|.	E1B6X3;Q9BQA9|.	.;CQ062_HUMAN|.	H|T	140;140;126|30	.|.	ENSP00000307765:Q140H|ENSP00000342228:R30T	Q|R	-|-	3|2	2|0	C17orf62|C17orf62	77995635|77995635	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.694000|0.694000	0.40290|0.40290	2.792000|2.792000	0.47837|0.47837	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	CAG|AGA	C17orf62	-	NULL		0.622	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	C	NM_001033046		80402346	-1	no_errors	ENST00000306645	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80402346	C	G	80402346	3	3	25	1	0	0	0	0	1	0	0	0	1874	912	32	1	151	1	C17orf62	17	80402346	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	6113829	80402346	792864	109	3868										
CDH7	1005	genome.wustl.edu	37	chr18	63526275	63526275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cgtctgtgaaaatgcccagcCggggcaggtaagagtcttca	13	10	3	2	rs141136047	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:63526275C>T	ENST00000397968.2	+	9	1913	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	CDH7_ENST00000323011.3_Missense_Mutation_p.P496L|CDH7_ENST00000536984.2_Missense_Mutation_p.P496L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATGCCCAGCCGGGGCAGGTA	0.433													C|||	3	0.000599042	0.0023	0	5008	,	,		17197	0		0	False		,,,				2504	0																0								C	LEU/PRO,LEU/PRO	6,4400	12.9+/-30.5	0,6,2197	67	68	68		1487,1487	4.4	0.5	18	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	CDH7	NM_004361.2,NM_033646.1	98,98	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging,possibly-damaging	496/786,496/786	63526275	6,13000	2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1487C>T	18.37:g.63526275C>T	ENSP00000381058:p.Pro496Leu		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P496L	ENST00000397968.2	37	c.1487	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313945	0.81358	0.001362	0.0	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59906	0.23;0.23;0.23	5.32	4.44	0.53790	Cadherin (3);Cadherin-like (1);	0.241522	0.41605	D	0.000844	T	0.67344	0.2883	M	0.65320	2	0.80722	D	1	P;D	0.69078	0.948;0.997	P;P	0.55545	0.526;0.778	T	0.72154	-0.4376	10	0.87932	D	0	.	14.187	0.65612	0.0:0.9271:0.0:0.0729	.	496;496	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	496	ENSP00000319166:P496L;ENSP00000443030:P496L;ENSP00000381058:P496L	ENSP00000319166:P496L	P	+	2	0	CDH7	61677255	0.881000	0.30235	0.451000	0.26982	0.955000	0.61496	4.719000	0.61937	1.370000	0.46153	0.467000	0.42956	CCG	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	C	NM_033646		63526275	1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	0.953	T	T	63526275	C	T	63526275	3	4	25	1	0	0	0	0	1	0	0	0	3120	652	23	2	1517	2	CDH7	18	63526275	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		63526275	14550973	110	3869										
RTTN	25914	genome.wustl.edu	37	chr18	67781755	67781755	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tctttctgaagttgttgcctGacagcagtccggatatcatc	9	10	3	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:67781755G>A	ENST00000255674.6	-	27	3895	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	RTTN_ENST00000437017.1_Silent_p.V1203V|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1203					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTGTTGCCTGACAGCAGTCC	0.398																																																	0													128	120	123					18																	67781755		1873	4122	5995	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3609C>T	18.37:g.67781755G>A			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.V1203	ENST00000255674.6	37	c.3609	CCDS42443.1	18																																																																																			RTTN	-	NULL		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67781755	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67781755	G	A	67781755	2	1	25	1	0	0	0	0	0	0	0	1	13767	1277	45	1		1	RTTN	18	67781755	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	4255480	67781755	10295493	111	3870										
ZBTB7A	51341	genome.wustl.edu	37	chr19	4054349	4054349	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gccgctcccgacaggaagccCggagagtcgcccggctcggg	16	16	0	1	rs532750291		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:4054349C>A	ENST00000322357.4	-	2	1160	c.882G>T	c.(880-882)ccG>ccT	p.P294P	ZBTB7A_ENST00000601588.1_Silent_p.P294P	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	294					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGAAGCCCGGAGAGTCGC	0.766																																																	0													1	2	1					19																	4054349		853	1939	2792	SO:0001819	synonymous_variant	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.882G>T	19.37:g.4054349C>A			D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P294	ENST00000322357.4	37	c.882	CCDS12119.1	19																																																																																			ZBTB7A	-	NULL		0.766	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	C	NM_015898		4054349	-1	no_errors	ENST00000322357	ensembl	human	known	70_37	silent	SNP	0.697	A	A	4054349	C	A	4054349	2	1	25	1	0	0	0	0	0	0	0	1	17583	639	23	2		2	ZBTB7A	19	4054349	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08		4054349	55074634	112	3871										
MUC16	94025	genome.wustl.edu	37	chr19	9065853	9065853	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tctctgagtcagctaaggcaGaggaaggggattcatgtcca	13	8	3	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9065853G>C	ENST00000397910.4	-	3	21796	c.21593C>G	c.(21592-21594)tCt>tGt	p.S7198C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7200	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTAAGGCAGAGGAAGGGGA	0.493																																																	0													217	206	210					19																	9065853		2104	4233	6337	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21593C>G	19.37:g.9065853G>C	ENSP00000381008:p.Ser7198Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S7198C	ENST00000397910.4	37	c.21593	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.609	-0.079894	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	2.47	0.286	0.15710	.	.	.	.	.	T	0.43831	0.1265	L	0.52573	1.65	.	.	.	D	0.65815	0.995	P	0.61940	0.896	T	0.50947	-0.8767	8	0.87932	D	0	.	4.4557	0.11642	0.3408:0.0:0.6592:0.0	.	7198	B5ME49	.	C	7198	ENSP00000381008:S7198C	ENSP00000381008:S7198C	S	-	2	0	MUC16	8926853	0.011000	0.17503	0.000000	0.03702	0.006000	0.05464	1.660000	0.37397	0.142000	0.18901	0.195000	0.17529	TCT	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9065853	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9065853	G	C	9065853	3	2	25	1	0	0	0	0	1	0	0	0	9996	942	33	1	22258	1	MUC16	19	9065853	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	5011504	9065853	50063130	113	3872			1	20		3	3	2436	G		6.102522e-05
MUC16	94025	genome.wustl.edu	37	chr19	9067041	9067041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtgaaggcatcagggaagagGagaagctggttttctctata	14	5	2	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9067041G>A	ENST00000397910.4	-	3	20608	c.20405C>T	c.(20404-20406)tCc>tTc	p.S6802F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6804	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGAAGAGGAGAAGCTGGT	0.468																																																	0													144	148	146					19																	9067041		2103	4229	6332	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20405C>T	19.37:g.9067041G>A	ENSP00000381008:p.Ser6802Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S6802F	ENST00000397910.4	37	c.20405	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.048	-0.195987	0.06259	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	2.28	-3.07	0.05363	.	.	.	.	.	T	0.08802	0.0218	N	0.14661	0.345	.	.	.	P	0.46020	0.871	B	0.30782	0.12	T	0.20306	-1.0279	8	0.87932	D	0	.	2.4261	0.04460	0.3257:0.0:0.3332:0.3411	.	6802	B5ME49	.	F	6802	ENSP00000381008:S6802F	ENSP00000381008:S6802F	S	-	2	0	MUC16	8928041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.342000	0.07801	-0.523000	0.06409	-0.533000	0.04299	TCC	MUC16	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9067041	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9067041	G	A	9067041	3	1	25	1	0	0	0	0	1	0	0	0	9996	1174	41	1	23446	1	MUC16	19	9067041	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	1188	9067041	50061942	114	3873			1	20		3	3	2436	G		6.102522e-05
MUC16	94025	genome.wustl.edu	37	chr19	9068288	9068288	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcagtgaatgctttgtcaaaGaccgtgcttgtgtctgagga	13	7	2	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9068288G>C	ENST00000397910.4	-	3	19361	c.19158C>G	c.(19156-19158)gtC>gtG	p.V6386V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6388	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGTCAAAGACCGTGCTTG	0.463																																																	0													101	98	99					19																	9068288		1991	4158	6149	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19158C>G	19.37:g.9068288G>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V6386	ENST00000397910.4	37	c.19158	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9068288	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	C	C	9068288	G	C	9068288	2	2	25	1	0	0	0	0	0	0	0	1	9996	929	33	1		1	MUC16	19	9068288	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	1247	9068288	50060695	115	3874			1	20		3	3	2436	G		6.102522e-05
ZNF563	147837	genome.wustl.edu	37	chr19	12429781	12429781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgtgaattcgttcatgatatCgaactaaactgggacgatca	9	7	2	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:12429781C>T	ENST00000293725.5	-	4	1263	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCATGATATCGAACTAAACT	0.413																																					GBM(39;623 795 5132 29510 31476)												0													167	156	160					19																	12429781		2203	4300	6503	SO:0001583	missense	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1058G>A	19.37:g.12429781C>T	ENSP00000293725:p.Arg353Gln		B2R9E7|Q8NAT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R353Q	ENST00000293725.5	37	c.1058	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206700	0.01568	.	.	ENSG00000188868	ENST00000293725	T	0.04275	3.66	1.0	-0.137	0.13469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.04297	-0.235	0.09310	N	1	B	0.21520	0.057	B	0.12837	0.008	T	0.45906	-0.9229	9	0.02654	T	1	.	3.4575	0.07521	0.2394:0.577:0.0:0.1836	.	353	Q8TA94	ZN563_HUMAN	Q	353	ENSP00000293725:R353Q	ENSP00000293725:R353Q	R	-	2	0	ZNF563	12290781	0.000000	0.05858	0.001000	0.08648	0.372000	0.29890	-2.040000	0.01416	-0.012000	0.14223	-0.657000	0.03884	CGA	ZNF563	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	C	NM_145276		12429781	-1	no_errors	ENST00000293725	ensembl	human	known	70_37	missense	SNP	0.000	T	T	12429781	C	T	12429781	3	4	25	1	0	0	0	0	1	0	0	0	18024	884	31	1	376	1	ZNF563	19	12429781	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	3361493	12429781	46699202	116	3875										
ZNF443	10224	genome.wustl.edu	37	chr19	12542024	12542024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	catgtctttgaagggaaccgGaaacactgaaggctttccca	10	10	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:12542024G>A	ENST00000301547.5	-	4	1159	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	321					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAGGGAACCGGAAACACTGAA	0.433																																																	0													150	143	146					19																	12542024		2203	4299	6502	SO:0001583	missense	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.962C>T	19.37:g.12542024G>A	ENSP00000301547:p.Ser321Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S321F	ENST00000301547.5	37	c.962	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	G	1.163	-0.643171	0.03531	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.08008	3.14	1.44	0.359	0.16088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	M	0.79011	2.435	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.45687	-0.9244	9	0.12430	T	0.62	.	1.9413	0.03347	0.3604:0.0:0.374:0.2656	.	321	Q9Y2A4	ZN443_HUMAN	F	321	ENSP00000301547:S321F	ENSP00000301547:S321F	S	-	2	0	ZNF443	12403024	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.562000	0.05950	0.193000	0.20303	0.461000	0.40582	TCC	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542024	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	missense	SNP	0.000	A	A	12542024	G	A	12542024	3	1	25	1	0	0	0	0	1	0	0	0	17946	1174	41	1	1057	1	ZNF443	19	12542024	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	112243	12542024	46586959	117	3876										
PGLYRP2	114770	genome.wustl.edu	37	chr19	15586353	15586353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggggaacttcctcacccagGaaggcctcagtgaattcctt	10	12	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:15586353G>T	ENST00000340880.4	-	2	1608	c.1128C>A	c.(1126-1128)ttC>ttA	p.F376L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.F376L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	376					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTCACCCAGGAAGGCCTCAG	0.562																																																	0													103	107	106					19																	15586353		2203	4299	6502	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1128C>A	19.37:g.15586353G>T	ENSP00000345968:p.Phe376Leu		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.F376L	ENST00000340880.4	37	c.1128	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396328	0.62177	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04317	3.66;3.65	5.4	5.4	0.78164	N-acetylmuramoyl-L-alanine amidase domain (1);	0.336096	0.32147	N	0.006520	T	0.18383	0.0441	M	0.70595	2.14	0.38659	D	0.952021	P;D	0.63046	0.916;0.992	P;D	0.63033	0.794;0.91	T	0.00263	-1.1866	10	0.66056	D	0.02	-3.8594	14.6638	0.68893	0.0:0.0:1.0:0.0	.	376;376	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	376	ENSP00000345968:F376L;ENSP00000292609:F376L	ENSP00000292609:F376L	F	-	3	2	PGLYRP2	15447353	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	1.946000	0.40283	2.546000	0.85860	0.561000	0.74099	TTC	PGLYRP2	-	NULL		0.562	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	G	NM_052890		15586353	-1	no_errors	ENST00000292609	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15586353	G	T	15586353	3	4	25	1	0	0	0	0	1	0	0	0	11818	1165	41	3	618	3	PGLYRP2	19	15586353	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	3044329	15586353	43542630	118	3877										
JAK3	3718	genome.wustl.edu	37	chr19	17951037	17951037	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cccaccctagcagtagaccgAcctggacacagacagtgagg	11	14	0	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:17951037A>G	ENST00000527670.1	-	8	1284		c.e8+1		JAK3_ENST00000458235.1_Splice_Site|JAK3_ENST00000526008.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site			P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGTAGACCGACCTGGACACA	0.537		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													39	35	36					19																	17951037		2203	4300	6503	SO:0001630	splice_region_variant	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1254+1T>C	19.37:g.17951037A>G			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	SNP	-	e8+2	ENST00000527670.1	37	c.1254+2	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	A	6.088	0.384571	0.11524	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	.	.	.	4.21	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6943	0.28585	0.8947:0.0:0.1053:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAK3	17812037	1.000000	0.71417	0.064000	0.19789	0.022000	0.10575	8.408000	0.90221	0.519000	0.28406	0.374000	0.22700	.	JAK3	-	-		0.537	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	A	NM_000215	Intron	17951037	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	splice_site	SNP	0.775	G	G	17951037	A	G	17951037	5	3	25	1	0	0	0	0	0	0	1	0	7959	289	10	5	2182	5	JAK3	19	17951037	Splice_Site	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08	2364684	17951037	41177946	119	3878										
SLC25A42	284439	genome.wustl.edu	37	chr19	19221580	19221580	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gagggcgccgtgcgcggcctCtacaaaggcttgagcatgaa	15	11	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:19221580C>G	ENST00000318596.7	+	8	1003	c.852C>G	c.(850-852)ctC>ctG	p.L284L		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	284					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGCGCGGCCTCTACAAAGGCT	0.687																																																	0													44	34	37					19																	19221580		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.852C>G	19.37:g.19221580C>G			D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L284	ENST00000318596.7	37	c.852	CCDS32966.1	19																																																																																			SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.687	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19221580	1	no_errors	ENST00000318596	ensembl	human	known	70_37	silent	SNP	0.994	G	G	19221580	C	G	19221580	2	3	25	1	0	0	0	0	0	0	0	1	14537	900	32	1		1	SLC25A42	19	19221580	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	1270543	19221580	39907403	120	3879										
SPRED3	399473	genome.wustl.edu	37	chr19	38886143	38886143	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	taccctccgcttctaccgttCacggggattccggaaccctc	8	17	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:38886143C>T	ENST00000338502.4	+	5	694	c.591C>T	c.(589-591)ttC>ttT	p.F197F	AC005789.11_ENST00000588453.1_lincRNA|SPRED3_ENST00000586301.1_Silent_p.F197F|SPRED3_ENST00000587013.1_Silent_p.F241F	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	197	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCTACCGTTCACGGGGATTC	0.652																																																	0													32	30	31					19																	38886143		1849	4076	5925	SO:0001819	synonymous_variant	399473				CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.591C>T	19.37:g.38886143C>T			Q2MJR1	Silent	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.F197	ENST00000338502.4	37	c.591	CCDS42560.1	19																																																																																			SPRED3	-	NULL		0.652	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED3	HGNC	protein_coding	OTTHUMT00000459216.1	C	XM_351191		38886143	1	no_errors	ENST00000338502	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38886143	C	T	38886143	2	4	25	1	0	0	0	0	0	0	0	1	15124	825	29	1		1	SPRED3	19	38886143	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	19664563	38886143	20242840	121	3880										
RYR1	6261	genome.wustl.edu	37	chr19	39051944	39051944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	catgtgccgcatgaccctcgCctgcacaacttcctggagct	9	16	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:39051944C>T	ENST00000359596.3	+	90	12474	c.12474C>T	c.(12472-12474)cgC>cgT	p.R4158R	RYR1_ENST00000360985.3_Silent_p.R4153R|RYR1_ENST00000355481.4_Silent_p.R4153R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4158					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGACCCTCGCCTGCACAACT	0.637																																																	0													112	84	94					19																	39051944		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12474C>T	19.37:g.39051944C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R4158	ENST00000359596.3	37	c.12474	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39051944	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39051944	C	T	39051944	2	4	25	1	0	0	0	0	0	0	0	1	13798	726	26	4		4	RYR1	19	39051944	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	165801	39051944	20077039	122	3881										
CAPN12	147968	genome.wustl.edu	37	chr19	39224780	39224780	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gaggcccagtctcccacctcAcctgccactccaggaggtag	10	17	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:39224780A>C	ENST00000328867.4	-	17	2187		c.e17+1		CAPN12_ENST00000601953.1_Splice_Site	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCCCACCTCACCTGCCACTC	0.582																																																	0													50	53	52					19																	39224780		2196	4299	6495	SO:0001630	splice_region_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1878+1T>G	19.37:g.39224780A>C				Splice_Site	SNP	-	e17+2	ENST00000328867.4	37	c.1878+2	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742014	0.49151	.	.	ENSG00000182472	ENST00000328867	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9091	0.41394	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN12	43916620	0.968000	0.33430	0.972000	0.41901	0.616000	0.37450	1.941000	0.40233	1.849000	0.53698	0.379000	0.24179	.	CAPN12	-	-		0.582	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	A		Intron	39224780	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	splice_site	SNP	0.987	C	C	39224780	A	C	39224780	5	2	25	1	0	0	0	0	0	0	1	0	2630	173	6	5	299	5	CAPN12	19	39224780	Splice_Site	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08	172836	39224780	19904203	123	3882										
SPTBN4	57731	genome.wustl.edu	37	chr19	41066134	41066134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtgaacatgccgaggccatcGctagccgggagcaggaggtg	17	10	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:41066134G>T	ENST00000352632.3	+	27	5826	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1914S|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A657S|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1914S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1914S|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A590S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1914					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGCCATCGCTAGCCGGGA	0.682																																																	0													68	57	61					19																	41066134		2203	4300	6503	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5740G>T	19.37:g.41066134G>T	ENSP00000263373:p.Ala1914Ser		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1914S	ENST00000352632.3	37	c.5740	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846644	0.51164	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000010	T	0.55289	0.1911	L	0.40543	1.245	0.44652	D	0.997632	D;P;D;P	0.71674	0.997;0.632;0.998;0.951	D;B;D;P	0.68621	0.93;0.311;0.959;0.688	T	0.44862	-0.9300	10	0.08837	T	0.75	.	16.4676	0.84087	0.0:0.0:1.0:0.0	.	657;590;1914;1914	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	S	1914;1914;1914;657;590	ENSP00000263373:A1914S;ENSP00000340345:A1914S;ENSP00000375879:A657S;ENSP00000375877:A590S	ENSP00000340345:A1914S	A	+	1	0	SPTBN4	45757974	0.827000	0.29292	1.000000	0.80357	0.939000	0.58152	3.106000	0.50322	2.424000	0.82194	0.591000	0.81541	GCT	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.682	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41066134	1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41066134	G	T	41066134	3	4	25	1	0	0	0	0	1	0	0	0	15151	1087	38	2	5842	2	SPTBN4	19	41066134	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	1841354	41066134	18062849	124	3883										
PSG4	5672	genome.wustl.edu	37	chr19	43708080	43708080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tccagttactcctccagtccCatcgcgtcgctttatgatgt	7	14	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:43708080C>A	ENST00000405312.3	-	2	625	c.388G>T	c.(388-390)Ggg>Tgg	p.G130W	PSG4_ENST00000244295.9_Missense_Mutation_p.G130W|PSG4_ENST00000433626.2_Missense_Mutation_p.G130W	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	130	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCAGTCCCATCGCGTCGC	0.498																																																	0													259	259	259					19																	43708080		2134	4272	6406	SO:0001583	missense	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.388G>T	19.37:g.43708080C>A	ENSP00000384770:p.Gly130Trp		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G130W	ENST00000405312.3	37	c.388	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	N	7.858	0.725467	0.15439	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.59083	0.64;0.29;1.42;2.72	1.48	-2.96	0.05547	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62490	0.2432	L	0.50333	1.59	0.09310	N	1	D;D;D	0.71674	0.998;0.979;0.965	D;D;P	0.79784	0.993;0.955;0.762	T	0.55244	-0.8171	9	0.66056	D	0.02	.	3.9538	0.09380	0.0:0.4481:0.2324:0.3195	.	130;130;130	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	W	130;130;130;146	ENSP00000244295:G130W;ENSP00000384770:G130W;ENSP00000387864:G130W;ENSP00000388134:G146W	ENSP00000244295:G130W	G	-	1	0	PSG4	48399920	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.226000	0.00550	-1.349000	0.02202	-1.169000	0.01745	GGG	PSG4	-	smart_Ig_sub		0.498	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	C	NM_213633		43708080	-1	no_errors	ENST00000405312	ensembl	human	known	70_37	missense	SNP	0.000	A	A	43708080	C	A	43708080	3	1	25	1	0	0	0	0	1	0	0	0	12684	594	21	4	891	4	PSG4	19	43708080	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	2641946	43708080	15420903	125	3884										
CCDC8	83987	genome.wustl.edu	37	chr19	46915956	46915956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gaactgggtcagccgctcccGaaattctgcttccttggtgg	12	12	2	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:46915956G>A	ENST00000307522.3	-	1	885	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	38					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		agccgctcccgaaattctgct	0.657																																																	0													49	54	52					19																	46915956		2203	4300	6503	SO:0001583	missense	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.112C>T	19.37:g.46915956G>A	ENSP00000303158:p.Arg38Trp		Q8TB26	Missense_Mutation	SNP	NULL	p.R38W	ENST00000307522.3	37	c.112	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943630	0.73672	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.09538	2.97	4.26	3.22	0.36961	.	0.000000	0.37261	N	0.002179	T	0.10380	0.0254	M	0.64997	1.995	0.31905	N	0.615418	P	0.37352	0.591	B	0.28849	0.095	T	0.10382	-1.0632	10	0.66056	D	0.02	-18.8281	8.5396	0.33384	0.1123:0.0:0.8877:0.0	.	38	Q9H0W5	CCDC8_HUMAN	W	38	ENSP00000303158:R38W	ENSP00000303158:R38W	R	-	1	2	CCDC8	51607796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	1.083000	0.41159	0.491000	0.48974	CGG	CCDC8	-	NULL		0.657	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	G	NM_032040		46915956	-1	no_errors	ENST00000307522	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46915956	G	A	46915956	3	1	25	1	0	0	0	0	1	0	0	0	2858	1057	37	1	1508	1	CCDC8	19	46915956	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	3207876	46915956	12213027	126	3885										
TMC4	147798	genome.wustl.edu	37	chr19	54675749	54675749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tttctgctccttcctccatcCtcctcctcctcctccagcgc	3	22	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:54675749C>A	ENST00000376591.4	-	2	332	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.E61D	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCCTCCATCCTCCTCCTCCT	0.642																																																	0													101	97	98					19																	54675749		2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201G>T	19.37:g.54675749C>A	ENSP00000365776:p.Glu67Asp		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.E61D	ENST00000376591.4	37	c.183	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	c	16.09	3.025669	0.54683	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.72615	-0.66;-0.67	4.01	-5.21	0.02815	.	0.958071	0.08587	N	0.923640	T	0.49525	0.1562	L	0.38531	1.155	0.18873	N	0.999988	B;B	0.14438	0.002;0.01	B;B	0.11329	0.002;0.006	T	0.33752	-0.9856	10	0.14656	T	0.56	-0.9619	3.8062	0.08779	0.3863:0.3336:0.0:0.2801	.	67;61	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	D	61;67	ENSP00000301187:E61D;ENSP00000365776:E67D	ENSP00000301187:E61D	E	-	3	2	TMC4	59367561	0.148000	0.22702	0.008000	0.14137	0.979000	0.70002	-0.074000	0.11450	-0.725000	0.04901	0.430000	0.28490	GAG	TMC4	-	NULL		0.642	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54675749	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.003	A	A	54675749	C	A	54675749	3	1	25	1	0	0	0	0	1	0	0	0	16017	680	24	4	1993	4	TMC4	19	54675749	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	7759793	54675749	4453234	127	3886										
THBD	7056	genome.wustl.edu	37	chr20	23028472	23028472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcagcactacctccttggaaGgggccgcgcacttgtactcc	11	15	0	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:23028472G>T	ENST00000377103.2	-	1	1906	c.1670C>A	c.(1669-1671)cCt>cAt	p.P557H		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	557					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CTCCTTGGAAGGGGCCGCGCA	0.687																																																	0													26	25	25					20																	23028472		2198	4297	6495	SO:0001583	missense	7056				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1670C>A	20.37:g.23028472G>T	ENSP00000366307:p.Pro557His		Q8IV29|Q9UC32	Missense_Mutation	SNP	pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin	p.P557H	ENST00000377103.2	37	c.1670	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600712	0.46423	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80738	-1.41	5.51	5.51	0.81932	.	0.941883	0.08848	N	0.884933	D	0.89371	0.6696	M	0.74881	2.28	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.81313	-0.0989	10	0.54805	T	0.06	-8.475	17.9771	0.89130	0.0:0.0:1.0:0.0	.	557	P07204	TRBM_HUMAN	H	557;539	ENSP00000366307:P557H	ENSP00000366307:P557H	P	-	2	0	THBD	22976472	0.167000	0.22975	0.015000	0.15790	0.198000	0.23893	1.716000	0.37981	2.579000	0.87056	0.561000	0.74099	CCT	THBD	-	pirsf_CD93/CD141,prints_Thrombomodulin		0.687	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	G			23028472	-1	no_errors	ENST00000377103	ensembl	human	known	70_37	missense	SNP	0.058	T	T	23028472	G	T	23028472	3	4	25	1	0	0	0	0	1	0	0	0	15882	1000	35	4	61	4	THBD	20	23028472	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		23028472	39997048	128	3887										
SNTA1	6640	genome.wustl.edu	37	chr20	31996362	31996362	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tggccgacaggaaggagtggAtgatgaagactatggttttg	16	4	0	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:31996362A>T	ENST00000217381.2	-	8	1740	c.1469T>A	c.(1468-1470)aTc>aAc	p.I490N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	490	Calmodulin-binding. {ECO:0000250}.|SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GAAGGAGTGGATGATGAAGAC	0.607																																																	0													103	92	96					20																	31996362		2203	4300	6503	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1469T>A	20.37:g.31996362A>T	ENSP00000217381:p.Ile490Asn		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.I490N	ENST00000217381.2	37	c.1469	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205693	0.79127	.	.	ENSG00000101400	ENST00000217381	D	0.84223	-1.82	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.971;0.999	P;D	0.85130	0.603;0.997	D	0.91374	0.5122	10	0.87932	D	0	-11.3227	13.9075	0.63845	1.0:0.0:0.0:0.0	.	415;490	B4DX40;Q13424	.;SNTA1_HUMAN	N	490	ENSP00000217381:I490N	ENSP00000217381:I490N	I	-	2	0	SNTA1	31460023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.020000	0.93667	1.759000	0.51996	0.460000	0.39030	ATC	SNTA1	-	NULL		0.607	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	A	NM_003098		31996362	-1	no_errors	ENST00000217381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31996362	A	T	31996362	3	4	25	1	0	0	0	0	1	0	0	0	14901	333	12	5	52	5	SNTA1	20	31996362	Missense_Mutation	SNP	A	TCGA-C5-A1ML-01A-11D-A14W-08	8967890	31996362	31029158	129	3888										
PABPC1L	80336	genome.wustl.edu	37	chr20	43550254	43550254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggccgtggtccatatgaacgGgaaggaggtgagcgggcggc	20	8	0	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:43550254G>T	ENST00000217073.2	+	6	758	c.758G>T	c.(757-759)gGg>gTg	p.G253V	PABPC1L_ENST00000217074.4_Missense_Mutation_p.G253V|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_Missense_Mutation_p.G253V|PABPC1L_ENST00000255136.3_Missense_Mutation_p.G253V			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	253	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATATGAACGGGAAGGAGGTG	0.612																																																	0													103	105	104					20																	43550254		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.758G>T	20.37:g.43550254G>T	ENSP00000217073:p.Gly253Val		Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G253V	ENST00000217073.2	37	c.758	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541631	0.65085	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.91300	3.195	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.71537	-0.4563	10	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	253	Q4VXU2	PAP1L_HUMAN	V	253	ENSP00000217074:G253V;ENSP00000255136:G253V;ENSP00000445661:G253V;ENSP00000217073:G253V	ENSP00000217073:G253V	G	+	2	0	PABPC1L	42983668	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	9.835000	0.99442	2.421000	0.82119	0.563000	0.77884	GGG	PABPC1L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.612	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43550254	1	no_errors	ENST00000217073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43550254	G	T	43550254	3	4	25	1	0	0	0	0	1	0	0	0	11388	1232	43	4	780	4	PABPC1L	20	43550254	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	11553892	43550254	19475266	130	3889										
MATN4	8785	genome.wustl.edu	37	chr20	43929600	43929600	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cggtaggagaggccctcgctCacacactggaactcacagcc	11	15	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:43929600C>G	ENST00000372754.1	-	6	1070	c.1062G>C	c.(1060-1062)gtG>gtC	p.V354V	MATN4_ENST00000372756.1_Silent_p.V313V|MATN4_ENST00000353917.5_Silent_p.V231V|MATN4_ENST00000537548.1_Silent_p.V313V|MATN4_ENST00000342716.4_Silent_p.V313V|MATN4_ENST00000360607.6_Silent_p.V272V|MATN4_ENST00000372751.4_Silent_p.V164V			O95460	MATN4_HUMAN	matrilin 4	354	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCCCTCGCTCACACACTGGA	0.612											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													72	70	71					20																	43929600		2203	4300	6503	SO:0001819	synonymous_variant	8785			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1062G>C	20.37:g.43929600C>G		920	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_VWF_A	p.V354	ENST00000372754.1	37	c.1062		20																																																																																			MATN4	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.612	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	C			43929600	-1	no_errors	ENST00000372754	ensembl	human	known	70_37	silent	SNP	1.000	G	G	43929600	C	G	43929600	2	3	25	1	0	0	0	0	0	0	0	1	9359	813	29	1		1	MATN4	20	43929600	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	379346	43929600	19095920	131	3890										
IFNAR1	3454	genome.wustl.edu	37	chr21	34727805	34727805	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	caggaaattattctaatgaaGatgaaagcgaaagtaaaaca	8	4	1	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:34727805G>A	ENST00000270139.3	+	11	1776	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	IFNAR1_ENST00000442357.2_Missense_Mutation_p.D481N|IFNAR1_ENST00000416947.2_Missense_Mutation_p.D473N	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	542					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TTCTAATGAAGATGAAAGCGA	0.348																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												0													92	99	97					21																	34727805		2203	4300	6503	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1624G>A	21.37:g.34727805G>A	ENSP00000270139:p.Asp542Asn		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.D542N	ENST00000270139.3	37	c.1624	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583033	0.86748	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.52754	0.65;0.78;1.58	5.67	4.78	0.61160	.	0.500991	0.19984	N	0.101708	T	0.63367	0.2505	M	0.76574	2.34	0.34216	D	0.674864	D	0.76494	0.999	D	0.64144	0.922	T	0.73764	-0.3880	10	0.66056	D	0.02	-26.6341	9.5597	0.39362	0.0929:0.0:0.9071:0.0	.	542	P17181	INAR1_HUMAN	N	473;542;481	ENSP00000395606:D473N;ENSP00000270139:D542N;ENSP00000407406:D481N	ENSP00000270139:D542N	D	+	1	0	IFNAR1	33649675	0.993000	0.37304	0.995000	0.50966	0.901000	0.52897	2.197000	0.42696	2.666000	0.90696	0.655000	0.94253	GAT	IFNAR1	-	pirsf_Interferon_alpha/beta_rcpt-1		0.348	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	HGNC	protein_coding	OTTHUMT00000139823.4	G			34727805	1	no_errors	ENST00000270139	ensembl	human	known	70_37	missense	SNP	0.985	A	A	34727805	G	A	34727805	3	1	25	1	0	0	0	0	1	0	0	0	7564	942	33	1	1666	1	IFNAR1	21	34727805	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08		34727805	13402090	132	3891										
AIRE	326	genome.wustl.edu	37	chr21	45714338	45714338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtgaccccagcccctgtggaGggggtgctggcccccagccc	15	17	0	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:45714338G>T	ENST00000291582.5	+	12	1582	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	AIRE_ENST00000329347.4_3'UTR|AIRE_ENST00000355347.4_Missense_Mutation_p.E278D	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	485					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCCCTGTGGAGGGGGTGCTGG	0.741									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													4	5	5					21																	45714338		1954	3927	5881	SO:0001583	missense	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1455G>T	21.37:g.45714338G>T	ENSP00000291582:p.Glu485Asp		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.E485D	ENST00000291582.5	37	c.1455	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	2.734	-0.263679	0.05754	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347	T;T	0.72615	-0.67;-0.67	3.5	1.51	0.23008	.	1.237280	0.05940	N	0.636907	T	0.60830	0.2299	L	0.50333	1.59	0.20638	N	0.999876	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.35599	-0.9782	10	0.13470	T	0.59	-21.0106	5.6597	0.17662	0.1219:0.1995:0.6785:0.0	.	288;485	B2RP50;O43918	.;AIRE_HUMAN	D	485;288;288;278	ENSP00000291582:E485D;ENSP00000347505:E278D	ENSP00000291582:E485D	E	+	3	2	AIRE	44538766	0.994000	0.37717	0.005000	0.12908	0.005000	0.04900	1.042000	0.30303	0.203000	0.20529	0.643000	0.83706	GAG	AIRE	-	NULL		0.741	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	G			45714338	1	no_errors	ENST00000291582	ensembl	human	known	70_37	missense	SNP	0.034	T	T	45714338	G	T	45714338	3	4	25	1	0	0	0	0	1	0	0	0	437	991	35	4	1789	4	AIRE	21	45714338	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	10986533	45714338	2415557	133	3892										
FTCD	10841	genome.wustl.edu	37	chr21	47565416	47565416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ggaagggcgggatcaggcgcCgcatcgtcgtgtccagggac	18	11	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:47565416C>T	ENST00000291670.5	-	10	1218	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	FTCD_ENST00000397748.1_Missense_Mutation_p.R392Q|FTCD_ENST00000397743.1_Missense_Mutation_p.R392Q|FTCD_ENST00000397746.3_Missense_Mutation_p.R392Q|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.R392Q|FTCD_ENST00000355384.2_Missense_Mutation_p.R392Q	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	392	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GATCAGGCGCCGCATCGTCGT	0.697																																																	0													14	14	14					21																	47565416		2115	4191	6306	SO:0001583	missense	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1175G>A	21.37:g.47565416C>T	ENSP00000291670:p.Arg392Gln		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.R392Q	ENST00000291670.5	37	c.1175	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132306	0.56828	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.38	4.38	0.52667	Cyclodeaminase/cyclohydrolase (2);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.57536	1.79	0.54753	D	0.99998	D;D;P	0.65815	0.995;0.969;0.954	B;B;B	0.43809	0.432;0.144;0.164	T	0.44877	-0.9299	10	0.33141	T	0.24	.	17.3121	0.87212	0.0:1.0:0.0:0.0	.	392;392;392	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	Q	392	ENSP00000291670:R392Q;ENSP00000380856:R392Q;ENSP00000352707:R392Q;ENSP00000347545:R392Q;ENSP00000380854:R392Q;ENSP00000380851:R392Q	ENSP00000291670:R392Q	R	-	2	0	FTCD	46389844	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.567000	0.60850	2.174000	0.68829	0.411000	0.27672	CGG	FTCD	-	pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase		0.697	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	C	NM_006657		47565416	-1	no_errors	ENST00000359679	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47565416	C	T	47565416	3	4	25	1	0	0	0	0	1	0	0	0	6099	652	23	2	470	2	FTCD	21	47565416	Missense_Mutation	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	1851078	47565416	564479	134	3893										
C21orf56	84221	genome.wustl.edu	37	chr21	47581929	47581929	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	cggcggtccagctggaaggcGatctcgcccaccacgcgcgc	14	17	1	0			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:47581929G>A	ENST00000291672.5	-	4	1658	c.597C>T	c.(595-597)atC>atT	p.I199I	SPATC1L_ENST00000330205.6_Silent_p.I45I	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	199																	GCTGGAAGGCGATCTCGCCCA	0.687																																																	0													31	25	27					21																	47581929		2187	4293	6480	SO:0001819	synonymous_variant	84221			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.597C>T	21.37:g.47581929G>A			B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP	NULL	p.I199	ENST00000291672.5	37	c.597	CCDS46653.1	21																																																																																			SPATC1L	-	NULL		0.687	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	HGNC	protein_coding	OTTHUMT00000376654.1	G	NM_032261		47581929	-1	no_errors	ENST00000291672	ensembl	human	known	70_37	silent	SNP	0.996	A	A	47581929	G	A	47581929	2	1	25	1	0	0	0	0	0	0	0	1	2132	1048	37	1		1	C21orf56	21	47581929	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	16513	47581929	547966	135	3894										
XK	7504	genome.wustl.edu	37	chrX	37587667	37587667	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	ccttctagcagtaaaacaagTcctgagcctggtcagttctt	8	11	3	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:37587667T>A	ENST00000378616.3	+	3	1490	c.1287T>A	c.(1285-1287)agT>agA	p.S429R	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	429					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTAAAACAAGTCCTGAGCCTG	0.478																																																	0													83	77	79					X																	37587667		2202	4300	6502	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1287T>A	X.37:g.37587667T>A	ENSP00000367879:p.Ser429Arg		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S429R	ENST00000378616.3	37	c.1287	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.419852	0.01136	.	.	ENSG00000047597	ENST00000378616	T	0.64085	-0.08	4.22	1.79	0.24919	.	0.640674	0.17655	N	0.166521	T	0.39145	0.1067	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12863	-1.0531	10	0.16420	T	0.52	-25.0696	2.814	0.05451	0.2233:0.1208:0.0:0.6559	.	429	P51811	XK_HUMAN	R	429	ENSP00000367879:S429R	ENSP00000367879:S429R	S	+	3	2	XK	37472606	0.059000	0.20769	0.001000	0.08648	0.008000	0.06430	1.883000	0.39658	0.256000	0.21614	-0.391000	0.06502	AGT	XK	-	NULL		0.478	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	T	NM_021083		37587667	1	no_errors	ENST00000378616	ensembl	human	known	70_37	missense	SNP	0.002	A	A	37587667	T	A	37587667	3	1	25	1	0	0	0	0	1	0	0	0	17462	1664	58	5	1297	5	XK	23	37587667	Missense_Mutation	SNP	T	TCGA-C5-A1ML-01A-11D-A14W-08		37587667	117682893	136	3895										
SLC35A2	7355	genome.wustl.edu	37	chrX	48762065	48762065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	tgaggtctccacggtgggaaGacagctgcggtggtggtggc	19	8	1	2			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:48762065G>A	ENST00000247138.5	-	4	1124	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	SLC35A2_ENST00000413561.2_Missense_Mutation_p.S313F|SLC35A2_ENST00000452555.2_Missense_Mutation_p.S402F|SLC35A2_ENST00000445167.2_Silent_p.V177V|SLC35A2_ENST00000376515.3_Silent_p.V153V|SLC35A2_ENST00000376529.3_Silent_p.V177V|SLC35A2_ENST00000376521.1_Missense_Mutation_p.S374F	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	374					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACGGTGGGAAGACAGCTGCGG	0.662																																																	0													44	36	39					X																	48762065		2203	4300	6503	SO:0001583	missense	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1121C>T	X.37:g.48762065G>A	ENSP00000247138:p.Ser374Phe		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.S402F	ENST00000247138.5	37	c.1205	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225492	0.39300	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555	T;T;T;T	0.47528	0.84;0.85;0.85;0.85	3.67	3.67	0.42095	.	1.139240	0.06548	N	0.744548	T	0.50854	0.1640	N	0.14661	0.345	0.31994	N	0.604305	P;P;P;P;P	0.45531	0.842;0.842;0.86;0.752;0.637	B;P;P;B;B	0.57846	0.047;0.543;0.828;0.102;0.047	T	0.55328	-0.8158	10	0.72032	D	0.01	-0.4451	12.0959	0.53755	0.0:0.0:1.0:0.0	.	313;402;387;374;374	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	F	374;374;313;402	ENSP00000247138:S374F;ENSP00000365704:S374F;ENSP00000393233:S313F;ENSP00000416002:S402F	ENSP00000247138:S374F	S	-	2	0	SLC35A2	48647009	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	2.172000	0.42463	2.068000	0.61886	0.600000	0.82982	TCT	SLC35A2	-	NULL		0.662	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	G	NM_005660		48762065	-1	no_errors	ENST00000452555	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48762065	G	A	48762065	3	1	25	1	0	0	0	0	1	0	0	0	14601	942	33	1	233	1	SLC35A2	23	48762065	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	11174398	48762065	106508495	137	3896										
IGBP1	3476	genome.wustl.edu	37	chrX	69353869	69353869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	actggtagacagttactggaCgaagtagaagtggcgactga	14	6	0	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:69353869C>T	ENST00000342206.6	+	1	571	c.72C>T	c.(70-72)gaC>gaT	p.D24D	IGBP1_ENST00000356413.4_Silent_p.D24D			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	24					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						AGTTACTGGACGAAGTAGAAG	0.572											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(167;1189 1558 6576 8216 30387 37980 41450)												0													41	35	37					X																	69353869		2203	4300	6503	SO:0001819	synonymous_variant	3476			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"alpha 4"	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.72C>T	X.37:g.69353869C>T		1114	Q8TAB2	Silent	SNP	pfam_TAP42-like	p.D24	ENST00000342206.6	37	c.72	CCDS14396.1	X																																																																																			IGBP1	-	pfam_TAP42-like		0.572	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGBP1	HGNC	protein_coding	OTTHUMT00000057052.1	C			69353869	1	no_errors	ENST00000342206	ensembl	human	known	70_37	silent	SNP	0.085	T	T	69353869	C	T	69353869	2	4	25	1	0	0	0	0	0	0	0	1	7587	535	19	2		2	IGBP1	23	69353869	Silent	SNP	C	TCGA-C5-A1ML-01A-11D-A14W-08	20591804	69353869	85916691	138	3897										
CYSLTR1	10800	genome.wustl.edu	37	chrX	77529174	77529174	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gtacaaggtggaatacacttGattgcggaagtcatcaatag	11	6	2	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:77529174G>C	ENST00000373304.3	-	3	362	c.70C>G	c.(70-72)Caa>Gaa	p.Q24E		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	24					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GAATACACTTGATTGCGGAAG	0.418																																																	0													174	134	148					X																	77529174		2203	4300	6503	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.70C>G	X.37:g.77529174G>C	ENSP00000362401:p.Gln24Glu		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.Q24E	ENST00000373304.3	37	c.70	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	g	0.560	-0.845798	0.02671	.	.	ENSG00000173198	ENST00000373304	T	0.37058	1.22	4.53	4.53	0.55603	.	0.260319	0.38778	N	0.001568	T	0.11665	0.0284	N	0.08118	0	0.31782	N	0.630765	P	0.39782	0.688	B	0.24974	0.057	T	0.21999	-1.0229	10	0.02654	T	1	.	9.2922	0.37793	0.0:0.0:0.7852:0.2148	.	24	Q9Y271	CLTR1_HUMAN	E	24	ENSP00000362401:Q24E	ENSP00000362401:Q24E	Q	-	1	0	CYSLTR1	77415830	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.722000	0.47269	1.823000	0.53134	0.452000	0.29995	CAA	CYSLTR1	-	prints_Cyst_leuk_rcpt		0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	G			77529174	-1	no_errors	ENST00000373304	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77529174	G	C	77529174	3	2	25	1	0	0	0	0	1	0	0	0	4206	1299	45	1	947	1	CYSLTR1	23	77529174	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	8175305	77529174	77741386	139	3898										
TNMD	64102	genome.wustl.edu	37	chrX	99854613	99854613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	gcgtctgtgaacctttactaGgctactacccatatccatac	6	13	1	1			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:99854613G>A	ENST00000373031.4	+	7	1070	c.853G>A	c.(853-855)Ggc>Agc	p.G285S		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	285					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACCTTTACTAGGCTACTACCC	0.512																																																	0													102	61	75					X																	99854613		2203	4300	6503	SO:0001583	missense	64102			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"BRICHOS domain containing"	17757	protein-coding gene	gene with protein product	"BRICHOS domain containing 4"	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.853G>A	X.37:g.99854613G>A	ENSP00000362122:p.Gly285Ser		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.G285S	ENST00000373031.4	37	c.853	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.452285	0.96223	.	.	ENSG00000000005	ENST00000373031	T	0.43688	0.94	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61451	-0.7060	10	0.87932	D	0	-16.5409	19.1351	0.93424	0.0:0.0:1.0:0.0	.	285	Q9H2S6	TNMD_HUMAN	S	285	ENSP00000362122:G285S	ENSP00000362122:G285S	G	+	1	0	TNMD	99741269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.229000	0.95273	2.469000	0.83416	0.594000	0.82650	GGC	TNMD	-	superfamily_Chitin-bd_1		0.512	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	G	NM_022144		99854613	1	no_errors	ENST00000373031	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99854613	G	A	99854613	3	1	25	1	0	0	0	0	1	0	0	0	16352	1000	35	4	879	4	TNMD	23	99854613	Missense_Mutation	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	22325439	99854613	55415947	140	3899										
GRIA3	2892	genome.wustl.edu	37	chrX	122387320	122387320	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.24113475177305	34	1.41641942874395e-12	3.87217988943672	6.93374772589448	2.87128271213323	0.493640418180009	0.714673441245685	25	atccagatgcgcccagccttGaagggcgctattctgagtct	11	12	2	3			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:122387320G>A	ENST00000371251.1	+	3	487	c.435G>A	c.(433-435)ttG>ttA	p.L145L	GRIA3_ENST00000541091.1_Silent_p.L129L|GRIA3_ENST00000542149.1_Silent_p.L145L|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Silent_p.L145L|GRIA3_ENST00000371256.5_Silent_p.L145L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	145					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCCCAGCCTTGAAGGGCGCTA	0.532																																																	0													107	91	96					X																	122387320		2203	4300	6503	SO:0001819	synonymous_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.435G>A	X.37:g.122387320G>A			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L145	ENST00000371251.1	37	c.435	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt		0.532	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	G	NM_000828		122387320	1	no_errors	ENST00000264357	ensembl	human	known	70_37	silent	SNP	0.995	A	A	122387320	G	A	122387320	2	1	25	1	0	0	0	0	0	0	0	1	6789	1281	45	1		1	GRIA3	23	122387320	Silent	SNP	G	TCGA-C5-A1ML-01A-11D-A14W-08	22532707	122387320	32883240	141	3900										
PRAMEF4	400735	genome.wustl.edu	37	chr1	12939661	12939661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gaagctgaaggtgttgagctCaaagcagcggctcagggcag	16	8	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:12939661C>G	ENST00000235349.5	-	4	1211	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	381					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTTGAGCTCAAAGCAGCGG	0.507																																																	0													84	87	86					1																	12939661		1498	2675	4173	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1141G>C	1.37:g.12939661C>G	ENSP00000235349:p.Glu381Gln		Q5LJB5	Missense_Mutation	SNP	NULL	p.E381Q	ENST00000235349.5	37	c.1141	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500400	0.00157	.	.	ENSG00000243073	ENST00000235349	T	0.08102	3.13	1.48	0.509	0.16977	.	0.246654	0.35040	N	0.003492	T	0.01489	0.0048	N	0.00890	-1.11	0.09310	N	1	P	0.35401	0.499	B	0.29440	0.102	T	0.44174	-0.9345	10	0.02654	T	1	.	5.5088	0.16868	0.0:0.3709:0.6291:0.0	.	381	O60810	PRAM4_HUMAN	Q	381	ENSP00000235349:E381Q	ENSP00000235349:E381Q	E	-	1	0	PRAMEF4	12862248	0.174000	0.23070	0.008000	0.14137	0.004000	0.04260	0.374000	0.20501	0.177000	0.19895	-0.723000	0.03601	GAG	PRAMEF4	-	NULL		0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	C	NM_001009611		12939661	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.010	G	G	12939661	C	G	12939661	3	3	26	1	0	0	0	0	1	0	0	0	12464	835	29	1	299	1	PRAMEF4	1	12939661	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		12939661	236310960	1	3901										
HSPG2	3339	genome.wustl.edu	37	chr1	22202370	22202370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gctcacctcccggaaaggcaCaatgaaggtgctgggctggc	14	12	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:22202370C>A	ENST00000374695.3	-	24	3248	c.3169G>T	c.(3169-3171)Gtg>Ttg	p.V1057L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1057	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGAAAGGCACAATGAAGGTG	0.637																																																	0													46	49	48					1																	22202370		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3169G>T	1.37:g.22202370C>A	ENSP00000363827:p.Val1057Leu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.V1057L	ENST00000374695.3	37	c.3169	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608964	0.66558	.	.	ENSG00000142798	ENST00000374695	T	0.37752	1.18	5.51	4.58	0.56647	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.36066	N	0.002813	T	0.35068	0.0919	L	0.49778	1.585	0.53688	D	0.999977	B	0.18863	0.031	B	0.23716	0.048	T	0.18335	-1.0340	10	0.66056	D	0.02	.	12.4018	0.55418	0.0:0.917:0.0:0.083	.	1057	P98160	PGBM_HUMAN	L	1057	ENSP00000363827:V1057L	ENSP00000363827:V1057L	V	-	1	0	HSPG2	22074957	1.000000	0.71417	0.951000	0.38953	0.954000	0.61252	5.522000	0.67092	1.299000	0.44798	0.561000	0.74099	GTG	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22202370	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.998	A	A	22202370	C	A	22202370	3	1	26	1	0	0	0	0	1	0	0	0	7450	478	17	4	10302	4	HSPG2	1	22202370	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	9262709	22202370	227048251	2	3902										
EPHB2	2048	genome.wustl.edu	37	chr1	23208941	23208941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agccggaccagcccaatggcGtgatcctggactatgagctg	13	12	0	2	rs371215652		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:23208941G>T	ENST00000400191.3	+	6	1411	c.1393G>T	c.(1393-1395)Gtg>Ttg	p.V465L	EPHB2_ENST00000544305.1_Missense_Mutation_p.V465L|EPHB2_ENST00000374627.1_Missense_Mutation_p.V459L|EPHB2_ENST00000374632.3_Missense_Mutation_p.V465L|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.V465L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	465	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCAATGGCGTGATCCTGGA	0.607																																																	0													149	138	141					1																	23208941		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1393G>T	1.37:g.23208941G>T	ENSP00000383053:p.Val465Leu		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V465L	ENST00000400191.3	37	c.1393		1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073727	0.55646	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.1	4.1	0.47936	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149500	0.44483	D	0.000458	T	0.41789	0.1174	L	0.39085	1.19	0.47037	D	0.999295	B;B;B;B	0.18013	0.006;0.025;0.014;0.004	B;B;B;B	0.25614	0.009;0.062;0.062;0.037	T	0.39354	-0.9618	10	0.51188	T	0.08	.	8.9436	0.35745	0.1041:0.0:0.8959:0.0	.	465;465;483;465	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	L	465;465;465;465;465;459	ENSP00000444174:V465L;ENSP00000363761:V465L;ENSP00000383053:V465L;ENSP00000363763:V465L;ENSP00000363758:V459L	ENSP00000363755:V465L	V	+	1	0	EPHB2	23081528	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	5.497000	0.66924	2.123000	0.65237	0.491000	0.48974	GTG	EPHB2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.607	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	G	NM_017449		23208941	1	no_errors	ENST00000400191	ensembl	human	known	70_37	missense	SNP	0.987	T	T	23208941	G	T	23208941	3	4	26	1	0	0	0	0	1	0	0	0	5187	1145	40	2	1415	2	EPHB2	1	23208941	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1006571	23208941	226041680	3	3903										
PUM1	9698	genome.wustl.edu	37	chr1	31437722	31437722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	actgctgccagtcagggagtCacggcgggagccactgccag	15	13	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:31437722C>T	ENST00000257075.5	-	14	2215	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	PUM1_ENST00000423018.2_Missense_Mutation_p.D564N|PUM1_ENST00000373747.3_Missense_Mutation_p.D709N|PUM1_ENST00000424085.2_Missense_Mutation_p.D466N|PUM1_ENST00000373741.4_Missense_Mutation_p.D744N|PUM1_ENST00000373742.2_Missense_Mutation_p.D649N|PUM1_ENST00000426105.2_Missense_Mutation_p.D708N|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000440538.2_Missense_Mutation_p.D682N	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	708	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTCAGGGAGTCACGGCGGGAG	0.488																																																	0													53	59	57					1																	31437722		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2122G>A	1.37:g.31437722C>T	ENSP00000257075:p.Asp708Asn		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D708N	ENST00000257075.5	37	c.2122	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436066	0.83885	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.19806	2.17;2.12;2.37;2.37;2.45;2.36;2.47;2.14	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.64404	1.975	0.80722	D	1	D;D;D;D;P;P;P	0.89917	0.997;0.999;0.994;1.0;0.944;0.773;0.944	D;D;D;D;P;P;P	0.83275	0.928;0.971;0.928;0.996;0.818;0.597;0.818	T	0.27806	-1.0063	10	0.49607	T	0.09	-10.2452	19.4713	0.94963	0.0:1.0:0.0:0.0	.	649;564;744;682;708;708;708	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.	N	466;708;709;446;708;682;744;564;649	ENSP00000400141:D466N;ENSP00000257075:D708N;ENSP00000362852:D709N;ENSP00000391723:D708N;ENSP00000401777:D682N;ENSP00000362846:D744N;ENSP00000399440:D564N;ENSP00000362847:D649N	ENSP00000257075:D708N	D	-	1	0	PUM1	31210309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	GAC	PUM1	-	NULL		0.488	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	C			31437722	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31437722	C	T	31437722	3	4	26	1	0	0	0	0	1	0	0	0	12855	826	29	1	1480	1	PUM1	1	31437722	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	8228781	31437722	217812899	4	3904										
WDR65	149465	genome.wustl.edu	37	chr1	43663242	43663242	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agggggagcctgctcactttGagtatttgatgtatccattg	12	7	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:43663242G>A	ENST00000372492.4	+	7	1465	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.E381K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		381										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTCACTTTGAGTATTTGAT	0.493																																																	0													195	173	180					1																	43663242		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.1141G>A	1.37:g.43663242G>A	ENSP00000361570:p.Glu381Lys		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E381K	ENST00000372492.4	37	c.1141		1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699878	0.88924	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.38401	1.14;3.24	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.099943	0.64402	D	0.000002	T	0.53722	0.1814	M	0.79258	2.445	0.58432	D	0.999998	B;P	0.41546	0.243;0.754	B;P	0.49829	0.119;0.623	T	0.41928	-0.9481	10	0.18710	T	0.47	.	20.248	0.98401	0.0:0.0:1.0:0.0	.	381;381	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	K	381	ENSP00000361570:E381K;ENSP00000435310:E381K	ENSP00000361570:E381K	E	+	1	0	WDR65	43435829	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	6.188000	0.72045	2.790000	0.95986	0.655000	0.94253	GAG	WDR65	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.493	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43663242	1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43663242	G	A	43663242	3	1	26	1	0	0	0	0	1	0	0	0	17347	1291	45	1	1163	1	WDR65	1	43663242	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	12225520	43663242	205587379	5	3905										
USP1	7398	genome.wustl.edu	37	chr1	62916624	62916624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tacatctcctacttctactcCttacttgctattttataaga	2	11	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:62916624C>T	ENST00000339950.4	+	9	3145	c.2330C>T	c.(2329-2331)cCt>cTt	p.P777L	USP1_ENST00000371146.1_Missense_Mutation_p.P777L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	777	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ACTTCTACTCCTTACTTGCTA	0.343																																					Ovarian(122;1846 2315 3982 19504)												0													68	73	71					1																	62916624		2195	4299	6494	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.2330C>T	1.37:g.62916624C>T	ENSP00000343526:p.Pro777Leu		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P777L	ENST00000339950.4	37	c.2330	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165908	0.78339	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.75477	-0.94;-0.94	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82372	-0.0490	10	0.87932	D	0	-14.122	19.9142	0.97043	0.0:1.0:0.0:0.0	.	777	O94782	UBP1_HUMAN	L	777	ENSP00000360188:P777L;ENSP00000343526:P777L	ENSP00000343526:P777L	P	+	2	0	USP1	62689212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.204000	0.77872	2.941000	0.99782	0.655000	0.94253	CCT	USP1	-	pfscan_Peptidase_C19		0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	C	NM_001017415		62916624	1	no_errors	ENST00000339950	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62916624	C	T	62916624	3	4	26	1	0	0	0	0	1	0	0	0	17071	681	24	4	2360	4	USP1	1	62916624	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	19253382	62916624	186333997	6	3906										
ABCD3	5825	genome.wustl.edu	37	chr1	94972174	94972174	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gttagtgtcgacgtggaaggCtacatttatagtcattgtcg	12	6	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:94972174C>A	ENST00000370214.4	+	21	1845	c.1821C>A	c.(1819-1821)ggC>ggA	p.G607G	ABCD3_ENST00000454898.2_Silent_p.G631G|ABCD3_ENST00000394233.2_Silent_p.G497G|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.G534G	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	607	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACGTGGAAGGCTACATTTATA	0.403																																																	0													167	152	157					1																	94972174		2203	4300	6503	SO:0001819	synonymous_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1821C>A	1.37:g.94972174C>A			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.G631	ENST00000370214.4	37	c.1893	CCDS749.1	1																																																																																			ABCD3	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.403	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	C	NM_002858		94972174	1	no_errors	ENST00000454898	ensembl	human	known	70_37	silent	SNP	0.994	A	A	94972174	C	A	94972174	2	1	26	1	0	0	0	0	0	0	0	1	62	784	28	4		4	ABCD3	1	94972174	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	32055550	94972174	154278447	7	3907										
CELSR2	1952	genome.wustl.edu	37	chr1	109813168	109813168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggtgcgcgatgtcaacaccGgccccatgcgcttctactac	10	15	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:109813168G>A	ENST00000271332.3	+	24	7490	c.7429G>A	c.(7429-7431)Ggc>Agc	p.G2477S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2477					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTCAACACCGGCCCCATGCG	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)												0													121	96	104					1																	109813168		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7429G>A	1.37:g.109813168G>A	ENSP00000271332:p.Gly2477Ser		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G2477S	ENST00000271332.3	37	c.7429	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311397	0.81358	.	.	ENSG00000143126	ENST00000271332	T	0.41065	1.01	4.22	3.28	0.37604	GPCR, family 2-like (1);	.	.	.	.	T	0.40196	0.1107	L	0.37750	1.13	0.35081	D	0.763387	D	0.89917	1.0	D	0.97110	1.0	T	0.38866	-0.9641	9	0.51188	T	0.08	.	11.5292	0.50597	0.0896:0.0:0.9103:0.0	.	2477	Q9HCU4	CELR2_HUMAN	S	2477	ENSP00000271332:G2477S	ENSP00000271332:G2477S	G	+	1	0	CELSR2	109614691	1.000000	0.71417	0.853000	0.33588	0.939000	0.58152	3.912000	0.56386	1.097000	0.41459	0.555000	0.69702	GGC	CELSR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109813168	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.993	A	A	109813168	G	A	109813168	3	1	26	1	0	0	0	0	1	0	0	0	3227	1116	39	2	7523	2	CELSR2	1	109813168	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	14840994	109813168	139437453	8	3908										
GPR61	83873	genome.wustl.edu	37	chr1	110086927	110086927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gacctctgagttcctggagcAgcaactcaccagcgacatca	9	14	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:110086927A>G	ENST00000527748.1	+	2	1966	c.1283A>G	c.(1282-1284)cAg>cGg	p.Q428R	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	428						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCCTGGAGCAGCAACTCACC	0.602																																																	0													32	29	30					1																	110086927		2198	4281	6479	SO:0001583	missense	83873			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1283A>G	1.37:g.110086927A>G	ENSP00000432456:p.Gln428Arg		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q428R	ENST00000527748.1	37	c.1283	CCDS801.1	1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329889	0.24167	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.69435	-0.4	5.89	4.78	0.61160	.	0.091610	0.44688	D	0.000428	T	0.28732	0.0712	N	0.14661	0.345	0.30021	N	0.814324	B	0.12013	0.005	B	0.08055	0.003	T	0.07252	-1.0782	10	0.36615	T	0.2	-8.6979	9.5317	0.39198	0.8693:0.0:0.1307:0.0	.	428	Q9BZJ8	GPR61_HUMAN	R	428;556	ENSP00000432456:Q428R	ENSP00000286603:Q556R	Q	+	2	0	GPR61	109888450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.490000	0.35573	2.254000	0.74563	0.533000	0.62120	CAG	GPR61	-	NULL		0.602	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GPR61	HGNC	protein_coding	OTTHUMT00000385575.1	A			110086927	1	no_errors	ENST00000404129	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110086927	A	G	110086927	3	3	26	1	0	0	0	0	1	0	0	0	6721	188	7	5	1285	5	GPR61	1	110086927	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08	273759	110086927	139163694	9	3909										
WDR3	10885	genome.wustl.edu	37	chr1	118477108	118477108	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gatttcagattcttatccttCaggggcttaaacaagaagtt	8	7	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:118477108C>T	ENST00000349139.5	+	3	231	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	62						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCTTATCCTTCAGGGGCTTAA	0.403																																																	0													78	79	79					1																	118477108		2203	4300	6503	SO:0001587	stop_gained	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.184C>T	1.37:g.118477108C>T	ENSP00000308179:p.Gln62*			Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q62*	ENST00000349139.5	37	c.184	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249624	0.80024	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	.	0.280476	0.40302	N	0.001122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-8.8205	15.7166	0.77672	0.1448:0.8552:0.0:0.0	.	.	.	.	X	62	.	ENSP00000308179:Q62X	Q	+	1	0	WDR3	118278631	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	2.106000	0.41835	2.814000	0.96858	0.563000	0.77884	CAG	WDR3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	C	NM_006784		118477108	1	no_errors	ENST00000349139	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	118477108	C	T	118477108	4	4	26	1	0	0	0	0	0	1	0	0	17316	827	29	1	190	1	WDR3	1	118477108	Nonsense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	8390181	118477108	130773513	10	3910										
PPIAL4A	164022	genome.wustl.edu	37	chr1	147955236	147955236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctctccagtgctcagagcacGaaagttttccgctgtcttta	8	12	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:147955236G>A	ENST00000539781.1	-	1	183	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_178230.1	NP_839944.1	Q9Y536	PAL4A_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4A	37	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)	1						CTCAGAGCACGAAAGTTTTCC	0.483																																																	0													2	3	3					1																	147955236		427	2126	2553	SO:0001583	missense	653505			AB084917		1q21.1	2012-10-03	2008-09-16	2008-09-16	ENSG00000255963				24369	protein-coding gene	gene with protein product			"peptidylprolyl isomerase A (cyclophilin A)-like 4"	PPIAL4		11948409	Standard			Approved	COAS2		Q9Y536	OTTHUMG00000013920	ENST00000539781.1:c.109C>T	1.37:g.147955236G>A	ENSP00000439146:p.Arg37Cys			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R37C	ENST00000539781.1	37	c.109	CCDS30835.1	1	.	.	.	.	.	.	.	.	.	.	.	7.167	0.586797	0.13749	.	.	ENSG00000255963	ENST00000539781	T	0.23552	1.9	0.109	-0.218	0.13142	.	0.132501	0.49305	N	0.000160	T	0.11110	0.0271	.	.	.	0.32371	N	0.555851	.	.	.	.	.	.	T	0.19745	-1.0296	7	0.54805	T	0.06	.	4.5397	0.12050	0.319:0.0:0.681:0.0	.	.	.	.	C	37	ENSP00000439146:R37C	ENSP00000439146:R37C	R	-	1	0	PPIAL4A	146421860	1.000000	0.71417	0.006000	0.13384	0.006000	0.05464	2.782000	0.47758	-1.206000	0.02641	-1.207000	0.01640	CGT	PPIAL4A	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.483	PPIAL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4A	HGNC	protein_coding	OTTHUMT00000039085.2	G	NM_178230		147955236	-1	no_errors	ENST00000539781	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147955236	G	A	147955236	3	1	26	1	0	0	0	0	1	0	0	0	12341	1058	37	1	888	1	PPIAL4A	1	147955236	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	29478128	147955236	101295385	11	3911										
KPRP	448834	genome.wustl.edu	37	chr1	152732421	152732421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgccaatctgaggtgtcctaCgtgcagtgcgaagcgtcaca	12	11	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:152732421C>T	ENST00000606109.1	+	1	385	c.357C>T	c.(355-357)taC>taT	p.Y119Y	KPRP_ENST00000368773.1_Silent_p.Y119Y			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	119	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.Y119Y(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGTGTCCTACGTGCAGTGCG	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)											266	252	257					1																	152732421		2203	4300	6503	SO:0001819	synonymous_variant	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.357C>T	1.37:g.152732421C>T				Silent	SNP	NULL	p.Y119	ENST00000606109.1	37	c.357	CCDS30862.1	1																																																																																			KPRP	-	NULL		0.488	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	C	NM_001025231		152732421	1	no_errors	ENST00000368773	ensembl	human	known	70_37	silent	SNP	0.064	T	T	152732421	C	T	152732421	2	4	26	1	0	0	0	0	0	0	0	1	8456	547	19	2		2	KPRP	1	152732421	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	4777185	152732421	96518200	12	3912										
NPR1	4881	genome.wustl.edu	37	chr1	153660530	153660530	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctctacccccccaatacagaGatcatcgagcgggtgactcg	9	15	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:153660530G>A	ENST00000368680.3	+	15	2722	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAATACAGAGATCATCGAGC	0.652																																					Pancreas(141;1349 1870 15144 15830 40702)												0													40	40	40					1																	153660530		2203	4298	6501	SO:0001630	splice_region_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2249-1G>A	1.37:g.153660530G>A			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.E750	ENST00000368680.3	37	c.2250	CCDS1051.1	1																																																																																			NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.652	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906	Silent	153660530	1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153660530	G	A	153660530	5	1	26	1	0	0	0	0	0	0	1	0	10618	956	33	1	2308	1	NPR1	1	153660530	Splice_Site	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	928109	153660530	95590091	13	3913										
DCAF6	55827	genome.wustl.edu	37	chr1	167973911	167973911	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	catcctctacaatgtcagctCaggctcattcgacatcatct	5	14	6	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:167973911C>G	ENST00000312263.6	+	10	1462	c.1258C>G	c.(1258-1260)Cag>Gag	p.Q420E	DCAF6_ENST00000367843.3_Missense_Mutation_p.Q420E|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q389E|DCAF6_ENST00000367840.3_Missense_Mutation_p.Q420E	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	420					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						aatgtcagctcaggctcaTTC	0.458																																																	0													97	88	91					1																	167973911		2203	4300	6503	SO:0001583	missense	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1258C>G	1.37:g.167973911C>G	ENSP00000311949:p.Gln420Glu		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.Q420E	ENST00000312263.6	37	c.1258	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114122	0.37339	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80994	-1.44;0.34;-1.41;-1.4	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.400112	0.26227	N	0.025590	T	0.54255	0.1847	L	0.29908	0.895	0.30245	N	0.794599	B;B;B;B	0.25850	0.034;0.136;0.049;0.001	B;B;B;B	0.26864	0.023;0.074;0.022;0.004	T	0.56372	-0.7990	9	0.05436	T	0.98	.	17.2269	0.86973	0.0:1.0:0.0:0.0	.	389;420;420;420	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	E	420;389;420;420	ENSP00000356817:Q420E;ENSP00000396238:Q389E;ENSP00000311949:Q420E;ENSP00000356814:Q420E	ENSP00000311949:Q420E	Q	+	1	0	DCAF6	166240535	1.000000	0.71417	0.607000	0.28956	0.979000	0.70002	5.214000	0.65236	2.552000	0.86080	0.555000	0.69702	CAG	DCAF6	-	superfamily_WD40_repeat_dom		0.458	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	C	NM_018442		167973911	1	no_errors	ENST00000367840	ensembl	human	known	70_37	missense	SNP	0.997	G	G	167973911	C	G	167973911	3	3	26	1	0	0	0	0	1	0	0	0	4279	827	29	1	1296	1	DCAF6	1	167973911	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	14313381	167973911	81276710	14	3914										
FAM5B	57795	genome.wustl.edu	37	chr1	177226388	177226388	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acaacaggaggtgcctctatAatcgggggcagtgggaacag	15	8	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:177226388A>T	ENST00000361539.4	+	4	849	c.537A>T	c.(535-537)atA>atT	p.I179I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	179	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GTGCCTCTATAATCGGGGGCA	0.552																																																	0													71	70	70					1																	177226388		2203	4300	6503	SO:0001819	synonymous_variant	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.537A>T	1.37:g.177226388A>T			O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.I179	ENST00000361539.4	37	c.537	CCDS1320.1	1																																																																																			FAM5B	-	smart_MACPF		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	A	NM_021165		177226388	1	no_errors	ENST00000361539	ensembl	human	known	70_37	silent	SNP	0.000	T	T	177226388	A	T	177226388	2	4	26	1	0	0	0	0	0	0	0	1	5611	352	13	5		5	FAM5B	1	177226388	Silent	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08	9252477	177226388	72024233	15	3915										
ACTA1	58	genome.wustl.edu	37	chr1	229568027	229568027	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cgccgcgcacctgtggtcacGaaggagtagccacgctcagt	13	14	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:229568027G>A	ENST00000366684.3	-	4	708	c.606C>T	c.(604-606)ttC>ttT	p.F202F	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	202					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CTGTGGTCACGAAGGAGTAGC	0.706																																																	0													33	31	32					1																	229568027		2203	4299	6502	SO:0001819	synonymous_variant	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.606C>T	1.37:g.229568027G>A			P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.F202	ENST00000366684.3	37	c.606	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like		0.706	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	G	NM_001100		229568027	-1	no_errors	ENST00000366684	ensembl	human	known	70_37	silent	SNP	1.000	A	A	229568027	G	A	229568027	2	1	26	1	0	0	0	0	0	0	0	1	191	1049	37	1		1	ACTA1	1	229568027	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	52341639	229568027	19682594	16	3916										
ARID4B	51742	genome.wustl.edu	37	chr1	235383751	235383751	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttcctccttaacttttatttCttttacattttcacactcct	0	12	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:235383751C>G	ENST00000264183.3	-	15	1770	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	ARID4B_ENST00000366603.2_Missense_Mutation_p.E425Q|ARID4B_ENST00000349213.3_Missense_Mutation_p.E425Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	425	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTTTTATTTCTTTTACATTT	0.353																																																	0													120	111	114					1																	235383751		2203	4296	6499	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1273G>C	1.37:g.235383751C>G	ENSP00000264183:p.Glu425Gln		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E425Q	ENST00000264183.3	37	c.1273	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867883	0.51588	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.25085	1.87;1.82;1.82;1.92	5.35	4.44	0.53790	.	0.260941	0.43747	D	0.000526	T	0.27454	0.0674	N	0.19112	0.55	0.41849	D	0.990167	D;P;P;P	0.53619	0.961;0.9;0.844;0.608	P;P;P;B	0.54590	0.756;0.628;0.447;0.261	T	0.05801	-1.0863	10	0.59425	D	0.04	-11.435	11.4198	0.49974	0.0:0.9169:0.0:0.0831	.	106;425;425;425	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	Q	425	ENSP00000264184:E425Q;ENSP00000355562:E425Q;ENSP00000264183:E425Q;ENSP00000391497:E425Q	ENSP00000264183:E425Q	E	-	1	0	ARID4B	233450374	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	2.711000	0.47177	1.389000	0.46526	0.655000	0.94253	GAA	ARID4B	-	NULL		0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235383751	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	235383751	C	G	235383751	3	3	26	1	0	0	0	0	1	0	0	0	920	922	32	1	2705	1	ARID4B	1	235383751	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	5815724	235383751	13866870	17	3917										
HEATR1	55127	genome.wustl.edu	37	chr1	236716983	236716983	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aactgtgcgatgcatggtatCaggtgctttgtcacccgttc	11	10	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:236716983C>G	ENST00000366582.3	-	43	6249	c.6135G>C	c.(6133-6135)ctG>ctC	p.L2045L	HEATR1_ENST00000366581.2_Silent_p.L1964L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2045					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCATGGTATCAGGTGCTTTG	0.478																																																	0													147	132	137					1																	236716983		2203	4300	6503	SO:0001819	synonymous_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6135G>C	1.37:g.236716983C>G			Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L2045	ENST00000366582.3	37	c.6135	CCDS31066.1	1																																																																																			HEATR1	-	superfamily_ARM-type_fold		0.478	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236716983	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	silent	SNP	0.998	G	G	236716983	C	G	236716983	2	3	26	1	0	0	0	0	0	0	0	1	7047	813	29	1		1	HEATR1	1	236716983	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1333232	236716983	12533638	18	3918										
RYR2	6262	genome.wustl.edu	37	chr1	237777446	237777446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tcttgggaaccaccgggtggCccatgccctgtgcagccatg	13	14	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:237777446C>T	ENST00000366574.2	+	37	5335	c.5018C>T	c.(5017-5019)gCc>gTc	p.A1673V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1657V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1671V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1673	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCGGGTGGCCCATGCCCTG	0.532																																																	0													65	67	66					1																	237777446		2102	4221	6323	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5018C>T	1.37:g.237777446C>T	ENSP00000355533:p.Ala1673Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A1671V	ENST00000366574.2	37	c.5012	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664115	0.88251	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97994	-4.65;-4.62;-4.64	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000006	D	0.98927	0.9636	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99632	1.0986	10	0.87932	D	0	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1673	Q92736	RYR2_HUMAN	V	1673;1671;1657	ENSP00000355533:A1673V;ENSP00000353174:A1671V;ENSP00000443798:A1657V	ENSP00000353174:A1671V	A	+	2	0	RYR2	235844069	1.000000	0.71417	0.990000	0.47175	0.952000	0.60782	7.776000	0.85560	2.730000	0.93505	0.655000	0.94253	GCC	RYR2	-	NULL		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237777446	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237777446	C	T	237777446	3	4	26	1	0	0	0	0	1	0	0	0	13799	739	26	4	5164	4	RYR2	1	237777446	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1060463	237777446	11473175	19	3919										
NT5C1B	93034	genome.wustl.edu	37	chr2	18765969	18765969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gacttccactcggtgggggaCgtgcgcgaatattccagcgg	15	11	0	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:18765969C>T	ENST00000359846.2	-	5	791	c.714G>A	c.(712-714)acG>acA	p.T238T	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Silent_p.T238T|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.T178T|NT5C1B_ENST00000600945.1_Silent_p.T238T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	238					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGGTGGGGGACGTGCGCGAAT	0.657																																																	0													29	30	29					2																	18765969		2203	4299	6502	SO:0001819	synonymous_variant	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.714G>A	2.37:g.18765969C>T			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	NULL	p.R156H	ENST00000359846.2	37	c.467	CCDS33150.1	2																																																																																			NT5C1B	-	NULL		0.657	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	C			18765969	-1	no_errors	ENST00000406971	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18765969	C	T	18765969	2	4	26	1	0	0	0	0	0	0	0	1	10710	523	19	2		2	NT5C1B	2	18765969	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		18765969	224433404	20	3920										
LCLAT1	253558	genome.wustl.edu	37	chr2	30863168	30863168	+	Missense_Mutation	SNP	G	G	A													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggtgccacaaacggtgggaaGagaaagaagagaggctgcgt							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:30863168G>A	ENST00000309052.4	+	7	1137	c.928G>A	c.(928-930)Gag>Aag	p.E310K	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E272K|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E272K	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	310					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ACGGTGGGAAGAGAAAGAAGA	0.498																																																	0													107	100	102					2																	30863168		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.928G>A	2.37:g.30863168G>A	ENSP00000310551:p.Glu310Lys		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E310K	ENST00000309052.4	37	c.928	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398106	0.62177	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.64991	-0.13;-0.13;-0.13	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	P	0.59703	0.862	T	0.73833	-0.3858	10	0.36615	T	0.2	-27.9848	19.9944	0.97379	0.0:0.0:1.0:0.0	.	310	Q6UWP7	LCLT1_HUMAN	K	272;272;310;272	ENSP00000368823:E272K;ENSP00000310551:E310K;ENSP00000442857:E272K	ENSP00000310551:E310K	E	+	1	0	LCLAT1	30716672	1.000000	0.71417	0.981000	0.43875	0.126000	0.20510	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	GAG	LCLAT1	-	NULL		0.498	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	G	NM_182551		30863168	1	no_errors	ENST00000309052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30863168	G	A	30863168	3	1	26	1	0	0	0	0	1	0	0	0	8697	943	33	1	950	1	LCLAT1	2	30863168	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	12097199	30863168	212336205	21	3921	18	2								
LCLAT1	253558	genome.wustl.edu	37	chr2	30863174	30863174	+	Missense_Mutation	SNP	G	G	A													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acaaacggtgggaagagaaaGaagagaggctgcgttccttc							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:30863174G>A	ENST00000309052.4	+	7	1143	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E274K|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E274K	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	312					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGAAGAGAAAGAAGAGAGGCT	0.498																																																	0													111	103	106					2																	30863174		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.934G>A	2.37:g.30863174G>A	ENSP00000310551:p.Glu312Lys		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E312K	ENST00000309052.4	37	c.934	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105549	0.77096	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.64991	-0.13;-0.13;-0.13	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85241	0.1038	10	0.87932	D	0	-27.0568	19.9944	0.97379	0.0:0.0:1.0:0.0	.	312	Q6UWP7	LCLT1_HUMAN	K	274;274;312;274	ENSP00000368823:E274K;ENSP00000310551:E312K;ENSP00000442857:E274K	ENSP00000310551:E312K	E	+	1	0	LCLAT1	30716678	1.000000	0.71417	0.488000	0.27440	0.130000	0.20726	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	GAA	LCLAT1	-	NULL		0.498	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	G	NM_182551		30863174	1	no_errors	ENST00000309052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30863174	G	A	30863174	3	1	26	1	0	0	0	0	1	0	0	0	8697	943	33	1	956	1	LCLAT1	2	30863174	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	6	30863174	212336199	22	3922	18	2								
CDC42EP3	10602	genome.wustl.edu	37	chr2	37873588	37873588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctccaaagacatcgtgctggCcctctttgccaatgtggatg	10	12	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:37873588C>A	ENST00000295324.3	-	2	1143	c.143G>T	c.(142-144)gGc>gTc	p.G48V	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	48					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				ATCGTGCTGGCCCTCTTTGCC	0.483																																																	0													130	132	131					2																	37873588		2203	4300	6503	SO:0001583	missense	10602			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.143G>T	2.37:g.37873588C>A	ENSP00000295324:p.Gly48Val		B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.G48V	ENST00000295324.3	37	c.143	CCDS1791.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298457	0.81025	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	D;D	0.88124	-2.34;-2.34	5.91	5.91	0.95273	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94292	0.7529	10	0.87932	D	0	.	17.7923	0.88558	0.0:1.0:0.0:0.0	.	48	Q9UKI2	BORG2_HUMAN	V	48	ENSP00000295324:G48V;ENSP00000403298:G48V	ENSP00000295324:G48V	G	-	2	0	CDC42EP3	37727092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.663000	0.83820	2.793000	0.96121	0.655000	0.94253	GGC	CDC42EP3	-	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd		0.483	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP3	HGNC	protein_coding	OTTHUMT00000218581.3	C	NM_006449		37873588	-1	no_errors	ENST00000295324	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37873588	C	A	37873588	3	1	26	1	0	0	0	0	1	0	0	0	3082	739	26	4	625	4	CDC42EP3	2	37873588	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	7010414	37873588	205325785	23	3923										
STAMBP	10617	genome.wustl.edu	37	chr2	74077619	74077619	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	atacaggatcagcagggcctCatcacactgggctggattca	11	11	4	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:74077619C>T	ENST00000394070.2	+	7	1487	c.984C>T	c.(982-984)ctC>ctT	p.L328L	STAMBP_ENST00000394073.1_Silent_p.L328L|STAMBP_ENST00000409707.1_Silent_p.L328L|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Silent_p.L328L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	328	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AGCAGGGCCTCATCACACTGG	0.463																																																	0													115	100	105					2																	74077619		2203	4300	6503	SO:0001819	synonymous_variant	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.984C>T	2.37:g.74077619C>T			B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.L328	ENST00000394070.2	37	c.984	CCDS1929.1	2																																																																																			STAMBP	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.463	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	C	NM_006463		74077619	1	no_errors	ENST00000339566	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74077619	C	T	74077619	2	4	26	1	0	0	0	0	0	0	0	1	15280	813	29	1		1	STAMBP	2	74077619	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	36204031	74077619	169121754	24	3924										
CTNNA2	1496	genome.wustl.edu	37	chr2	80773162	80773162	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggccgtggatgacatcacctCagtggatgacttcctctctg	11	12	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:80773162C>T	ENST00000402739.4	+	10	1519	c.1514C>T	c.(1513-1515)tCa>tTa	p.S505L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S184L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S539L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S505L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	505					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.S505*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACATCACCTCAGTGGATGAC	0.512																																																	1	Substitution - Nonsense(1)	lung(1)											67	76	73					2																	80773162		2062	4201	6263	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1514C>T	2.37:g.80773162C>T	ENSP00000384638:p.Ser505Leu		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S539L	ENST00000402739.4	37	c.1616		2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927288	0.92389	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.76574	2.34	0.58432	D	0.999999	P;D;D;D	0.63046	0.822;0.987;0.984;0.992	B;P;P;P	0.51266	0.202;0.639;0.664;0.586	T	0.52230	-0.8603	9	.	.	.	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	137;505;505;505	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	505;505;539;505;505;505;184;170	ENSP00000418191:S505L;ENSP00000419295:S505L;ENSP00000355398:S539L;ENSP00000384638:S505L;ENSP00000444675:S505L;ENSP00000441705:S505L;ENSP00000341500:S184L;ENSP00000386587:S170L	.	S	+	2	0	CTNNA2	80626673	1.000000	0.71417	0.958000	0.39756	0.959000	0.62525	5.959000	0.70339	2.786000	0.95864	0.561000	0.74099	TCA	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	C	NM_004389		80773162	1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	0.994	T	T	80773162	C	T	80773162	3	4	26	1	0	0	0	0	1	0	0	0	4018	838	29	1	1344	1	CTNNA2	2	80773162	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	6695543	80773162	162426211	25	3925										
ANAPC1	64682	genome.wustl.edu	37	chr2	112588897	112588897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgcttctttcacagattccaGggaggtaaggataaggtggc	13	7	2	1	rs201476913		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:112588897G>A	ENST00000341068.3	-	21	3363	c.2591C>T	c.(2590-2592)cCt>cTt	p.P864L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	864					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACAGATTCCAGGGAGGTAAGG	0.388													G|||	1	0.000199681	0	0	5008	,	,		17424	0		0.001	False		,,,				2504	0																0													76	69	72					2																	112588897		2203	4300	6503	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2591C>T	2.37:g.112588897G>A	ENSP00000339109:p.Pro864Leu		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.P864L	ENST00000341068.3	37	c.2591	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593389	0.46214	.	.	ENSG00000153107	ENST00000341068	T	0.37235	1.21	4.25	4.25	0.50352	.	0.000000	0.37012	U	0.002287	T	0.38931	0.1059	M	0.68593	2.085	0.80722	D	1	P	0.36065	0.535	B	0.34722	0.188	T	0.40194	-0.9576	10	0.38643	T	0.18	-17.7011	17.0361	0.86476	0.0:0.0:1.0:0.0	.	864	Q9H1A4	APC1_HUMAN	L	864	ENSP00000339109:P864L	ENSP00000339109:P864L	P	-	2	0	ANAPC1	112305368	1.000000	0.71417	0.976000	0.42696	0.841000	0.47740	6.277000	0.72608	2.085000	0.62840	0.313000	0.20887	CCT	ANAPC1	-	NULL		0.388	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	G	NM_022662		112588897	-1	no_errors	ENST00000341068	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112588897	G	A	112588897	3	1	26	1	0	0	0	0	1	0	0	0	598	1000	35	4	3355	4	ANAPC1	2	112588897	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	31815735	112588897	130610476	26	3926										
IL1F8	27177	genome.wustl.edu	37	chr2	113788646	113788646	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggcttaatgctgcggctaaGaggagctgctattaaagaat	12	6	0	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:113788646G>C	ENST00000259213.4	-	3	207	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	IL36B_ENST00000327407.2_Missense_Mutation_p.L34V	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	34					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						CTGCGGCTAAGAGGAGCTGCT	0.498																																																	0													110	98	102					2																	113788646		2203	4300	6503	SO:0001583	missense	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.100C>G	2.37:g.113788646G>C	ENSP00000259213:p.Leu34Val		Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	superfamily_Cytokine_IL1-like	p.L34V	ENST00000259213.4	37	c.100	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	g	3.741	-0.053524	0.07362	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.21361	2.01;2.01	3.04	-5.49	0.02584	.	3.090030	0.00956	N	0.003023	T	0.15305	0.0369	L	0.46157	1.445	0.09310	N	1	B;P	0.36171	0.356;0.541	B;B	0.31946	0.138;0.119	T	0.15435	-1.0437	10	0.28530	T	0.3	.	4.9899	0.14209	0.2827:0.3209:0.3964:0.0	.	34;34	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	V	34	ENSP00000259213:L34V;ENSP00000328420:L34V	ENSP00000259213:L34V	L	-	1	0	IL36B	113505117	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	-0.623000	0.05546	-1.154000	0.02825	-0.360000	0.07572	CTT	IL36B	-	superfamily_Cytokine_IL1-like		0.498	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	HGNC	protein_coding	OTTHUMT00000254110.1	G	NM_014438		113788646	-1	no_errors	ENST00000259213	ensembl	human	known	70_37	missense	SNP	0.000	C	C	113788646	G	C	113788646	3	2	26	1	0	0	0	0	1	0	0	0	7676	942	33	1	627	1	IL1F8	2	113788646	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1199749	113788646	129410727	27	3927										
CCDC93	54520	genome.wustl.edu	37	chr2	118703126	118703126	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tcatgagtcattgcagaggtCaaggtaccaggcggctctcc	12	11	4	2	rs577755174		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:118703126C>G	ENST00000376300.2	-	17	1466	c.1329G>C	c.(1327-1329)ttG>ttC	p.L443F	CCDC93_ENST00000319432.5_Missense_Mutation_p.L442F	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	443										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTGCAGAGGTCAAGGTACCAG	0.517													C|||	1	0.000199681	0	0	5008	,	,		20846	0		0	False		,,,				2504	0.001																0													105	95	98					2																	118703126		2203	4300	6503	SO:0001583	missense	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1329G>C	2.37:g.118703126C>G	ENSP00000365477:p.Leu443Phe		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.L443F	ENST00000376300.2	37	c.1329	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708284	0.30322	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.20738	2.05;2.05	4.79	-5.36	0.02689	.	1.107710	0.06883	N	0.802861	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.29440	0.102	T	0.35251	-0.9796	10	0.56958	D	0.05	1.9094	1.9564	0.03377	0.1079:0.2399:0.2374:0.4147	.	443	Q567U6	CCD93_HUMAN	F	443;442	ENSP00000365477:L443F;ENSP00000324135:L442F	ENSP00000324135:L442F	L	-	3	2	CCDC93	118419596	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.353000	0.02617	-1.189000	0.02702	0.655000	0.94253	TTG	CCDC93	-	NULL		0.517	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	C	NM_019044		118703126	-1	no_errors	ENST00000376300	ensembl	human	known	70_37	missense	SNP	0.000	G	G	118703126	C	G	118703126	3	3	26	1	0	0	0	0	1	0	0	0	2877	825	29	1	598	1	CCDC93	2	118703126	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	4914480	118703126	124496247	28	3928										
SP3	6670	genome.wustl.edu	37	chr2	174774691	174774691	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	actccattgtctcatttccaGaaactgtgacaagctgtaaa	6	10	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:174774691G>A	ENST00000310015.6	-	7	2854	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	SP3_ENST00000418194.2_Missense_Mutation_p.S707F|SP3_ENST00000455789.2_Missense_Mutation_p.S722F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	775					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTCATTTCCAGAAACTGTGAC	0.343																																																	0													89	86	87					2																	174774691		2203	4300	6503	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2324C>T	2.37:g.174774691G>A	ENSP00000310301:p.Ser775Phe		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S775F	ENST00000310015.6	37	c.2324	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068545	0.55539	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.06294	3.32;3.32;3.32	5.58	5.58	0.84498	.	0.122567	0.56097	D	0.000024	T	0.18593	0.0446	L	0.39898	1.24	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.64877	0.915;0.915;0.93	T	0.00152	-1.1984	10	0.87932	D	0	.	19.5758	0.95444	0.0:0.0:1.0:0.0	.	772;775;722	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	F	775;722;707	ENSP00000310301:S775F;ENSP00000388903:S722F;ENSP00000406140:S707F	ENSP00000310301:S775F	S	-	2	0	SP3	174482937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.632000	0.89209	0.655000	0.94253	TCT	SP3	-	NULL		0.343	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	G	NM_003111		174774691	-1	no_errors	ENST00000310015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	174774691	G	A	174774691	3	1	26	1	0	0	0	0	1	0	0	0	14995	942	33	1	25	1	SP3	2	174774691	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	56071565	174774691	68424682	29	3929										
OLA1	29789	genome.wustl.edu	37	chr2	175094076	175094076	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acaaagaaagtcaaacctttCatctggcacaggtactctgc	7	11	4	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:175094076C>T	ENST00000409546.1	-	3	895	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	OLA1_ENST00000284719.3_Missense_Mutation_p.E69K|OLA1_ENST00000428402.2_Missense_Mutation_p.E69K|OLA1_ENST00000344357.5_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TCAAACCTTTCATCTGGCACA	0.373																																																	0													82	80	81					2																	175094076		2203	4300	6503	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.265G>A	2.37:g.175094076C>T	ENSP00000386350:p.Glu89Lys			Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.E69K	ENST00000409546.1	37	c.205		2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532441	0.64972	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.45276	2.26;0.9;2.26;0.95	5.51	5.51	0.81932	GTP-binding domain, HSR1-related (1);	0.211827	0.49916	D	0.000127	T	0.39860	0.1094	L	0.39514	1.22	0.58432	D	0.999998	B;B;B	0.21452	0.056;0.011;0.011	B;B;B	0.22601	0.04;0.029;0.029	T	0.11494	-1.0585	10	0.38643	T	0.18	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	69;69;69	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	K	69;69;89;69	ENSP00000284719:E69K;ENSP00000410385:E69K;ENSP00000386350:E89K;ENSP00000414568:E69K	ENSP00000284719:E69K	E	-	1	0	OLA1	174802322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.750000	0.94351	0.655000	0.94253	GAA	OLA1	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,tigrfam_CHP00092		0.373	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	C	NM_013341		175094076	-1	no_errors	ENST00000284719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175094076	C	T	175094076	3	4	26	1	0	0	0	0	1	0	0	0	10874	835	29	1	1021	1	OLA1	2	175094076	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	319385	175094076	68105297	30	3930										
HOXD4	3233	genome.wustl.edu	37	chr2	177016484	177016484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gactactacggcggcggcgcGcagggcgcagacttccagcc	15	15	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:177016484G>A	ENST00000306324.3	+	1	535	c.123G>A	c.(121-123)gcG>gcA	p.A41A	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	41					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGGCGGCGCGCAGGGCGCAG	0.697																																																	0													19	22	21					2																	177016484		2181	4223	6404	SO:0001819	synonymous_variant	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.123G>A	2.37:g.177016484G>A			B2R9R3|Q96AU0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.A41	ENST00000306324.3	37	c.123	CCDS2269.1	2																																																																																			HOXD4	-	NULL		0.697	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	G			177016484	1	no_errors	ENST00000306324	ensembl	human	known	70_37	silent	SNP	0.073	A	A	177016484	G	A	177016484	2	1	26	1	0	0	0	0	0	0	0	1	7344	1074	38	2		2	HOXD4	2	177016484	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1922408	177016484	66182889	31	3931										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttctcgacttactccaagatCtatatcttgcctccaaagta	4	12	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66	59	61					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29H	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098960	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178098960	C	G	178098960	3	3	26	1	0	0	0	0	1	0	0	0	10392	913	32	1	1748	1	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1082476	178098960	65100413	32	3932										
TTN	7273	genome.wustl.edu	37	chr2	179393094	179393094	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gtcgctgactgatgcatttcGgatttcaagggagtatacat	11	7	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:179393094G>A	ENST00000591111.1	-	311	102585	c.102361C>T	c.(102361-102363)Cga>Tga	p.R34121*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R26822*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R26889*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R35762*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R26697*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R33194*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34121	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGCATTTCGGATTTCAAGG	0.393																																																	0													130	118	122					2																	179393094		1876	4119	5995	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102361C>T	2.37:g.179393094G>A	ENSP00000465570:p.Arg34121*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R33194*	ENST00000591111.1	37	c.99580		2	.	.	.	.	.	.	.	.	.	.	G	78	147.057929	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.25	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2603	0.60101	0.0:0.0:0.7112:0.2888	.	.	.	.	X	33194;26697;26889;26822;26694	.	ENSP00000340554:R26889X	R	-	1	2	TTN	179101340	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	2.284000	0.43478	1.318000	0.45170	-0.324000	0.08512	CGA	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179393094	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	179393094	G	A	179393094	4	1	26	1	0	0	0	0	0	1	0	0	16766	1124	39	2	703	2	TTN	2	179393094	Nonsense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1294134	179393094	63806279	33	3933										
TTN	7273	genome.wustl.edu	37	chr2	179499165	179499165	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gaccccttcatcatcaaattGagaatcattaataacaagaa	4	9	4	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:179499165G>T	ENST00000591111.1	-	180	37644	c.37420C>A	c.(37420-37422)Caa>Aaa	p.Q12474K	TTN_ENST00000359218.5_Missense_Mutation_p.Q5175K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q5242K|TTN_ENST00000589042.1_Missense_Mutation_p.Q14115K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q5050K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q11547K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12474					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCAAATTGAGAATCATTA	0.383																																																	0													72	73	73					2																	179499165		1857	4110	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37420C>A	2.37:g.179499165G>T	ENSP00000465570:p.Gln12474Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q11547K	ENST00000591111.1	37	c.34639		2	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546123	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48714	0.1515	N	0.12527	0.23	0.32188	N	0.579488	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.18561	0.012;0.012;0.022;0.022	T	0.55642	-0.8109	9	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	5050;5175;5242;12474	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11547;5050;5242;5175;5050	ENSP00000343764:Q11547K;ENSP00000434586:Q5050K;ENSP00000340554:Q5242K;ENSP00000352154:Q5175K	ENSP00000340554:Q5242K	Q	-	1	0	TTN	179207410	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	4.898000	0.63238	2.941000	0.99782	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179499165	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179499165	G	T	179499165	3	4	26	1	0	0	0	0	1	0	0	0	16766	1299	45	3	65882	3	TTN	2	179499165	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	106071	179499165	63700208	34	3934										
ITGA4	3676	genome.wustl.edu	37	chr2	182360122	182360122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agcagttggtgcttttcggtCtgattctgctgtcttgctaa	11	8	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:182360122C>A	ENST00000397033.2	+	13	1794	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	455					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCTTTTCGGTCTGATTCTGCT	0.333																																																	0													275	241	251					2																	182360122		1871	4118	5989	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1364C>A	2.37:g.182360122C>A	ENSP00000380227:p.Ser455Tyr		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S455Y	ENST00000397033.2	37	c.1364	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166070	0.78339	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.56444	0.46;0.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84121	0.0406	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	455	P13612	ITA4_HUMAN	Y	455	ENSP00000380227:S455Y;ENSP00000233573:S455Y	ENSP00000233573:S455Y	S	+	2	0	ITGA4	182068367	0.992000	0.36948	0.867000	0.34043	0.886000	0.51366	3.039000	0.49791	2.814000	0.96858	0.655000	0.94253	TCT	ITGA4	-	smart_Int_alpha_beta-p		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	C			182360122	1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182360122	C	A	182360122	3	1	26	1	0	0	0	0	1	0	0	0	7898	913	32	3	1414	3	ITGA4	2	182360122	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	2860957	182360122	60839251	35	3935										
RAPH1	65059	genome.wustl.edu	37	chr2	204304738	204304738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggaaattccaccacggagtCctttccacgcccactcagaa	7	15	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:204304738C>A	ENST00000319170.5	-	14	3474	c.3175G>T	c.(3175-3177)Gac>Tac	p.D1059Y	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.D1111Y|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1059					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCACGGAGTCCTTTCCACGC	0.522																																																	0													39	44	42					2																	204304738		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3175G>T	2.37:g.204304738C>A	ENSP00000316543:p.Asp1059Tyr		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.D1111Y	ENST00000319170.5	37	c.3331	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805133	0.31961	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.48522	0.81;0.81	4.52	4.52	0.55395	.	.	.	.	.	T	0.29028	0.0721	N	0.14661	0.345	0.80722	D	1	P	0.48162	0.906	B	0.38378	0.272	T	0.20107	-1.0285	9	0.72032	D	0.01	.	11.1831	0.48640	0.0:0.914:0.0:0.086	.	1059	Q70E73	RAPH1_HUMAN	Y	1059;1111	ENSP00000316543:D1059Y;ENSP00000363617:D1111Y	ENSP00000316543:D1059Y	D	-	1	0	RAPH1	204012983	1.000000	0.71417	0.521000	0.27850	0.013000	0.08279	3.617000	0.54181	2.235000	0.73313	0.467000	0.42956	GAC	RAPH1	-	NULL		0.522	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	C	NM_025252		204304738	-1	no_errors	ENST00000374493	ensembl	human	known	70_37	missense	SNP	0.995	A	A	204304738	C	A	204304738	3	1	26	1	0	0	0	0	1	0	0	0	13080	855	30	3	581	3	RAPH1	2	204304738	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	21944616	204304738	38894635	36	3936										
CRYGB	1419	genome.wustl.edu	37	chr2	209010507	209010507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gccacactcaccggggggatGaggcagcaggagcggatgga	18	10	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:209010507G>A	ENST00000260988.4	-	2	290	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	81	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCGGGGGGATGAGGCAGCAGG	0.498																																																	0													47	52	50					2																	209010507		2196	4290	6486	SO:0001819	synonymous_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.243C>T	2.37:g.209010507G>A			Q17RB5|Q53ST2	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.L81	ENST00000260988.4	37	c.243	CCDS2380.1	2																																																																																			CRYGB	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.498	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGB	HGNC	protein_coding	OTTHUMT00000256473.2	G	NM_005210		209010507	-1	no_errors	ENST00000260988	ensembl	human	known	70_37	silent	SNP	0.997	A	A	209010507	G	A	209010507	2	1	26	1	0	0	0	0	0	0	0	1	3920	1277	45	1		1	CRYGB	2	209010507	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	4705769	209010507	34188866	37	3937										
PTPRN	5798	genome.wustl.edu	37	chr2	220154978	220154978	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agggccttgaggatggcattCacttcctccgccacggctgt	12	13	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:220154978C>T	ENST00000295718.2	-	23	3150	c.2910G>A	c.(2908-2910)gtG>gtA	p.V970V	PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.V941V|PTPRN_ENST00000423636.2_Silent_p.V880V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	970					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGATGGCATTCACTTCCTCCG	0.612																																																	0													45	41	42					2																	220154978		2203	4300	6503	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2910G>A	2.37:g.220154978C>T			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V970	ENST00000295718.2	37	c.2910	CCDS2440.1	2																																																																																			PTPRN	-	smart_Tyr_Pase_rcpt/non-rcpt		0.612	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	C			220154978	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	silent	SNP	1.000	T	T	220154978	C	T	220154978	2	4	26	1	0	0	0	0	0	0	0	1	12837	813	29	1		1	PTPRN	2	220154978	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	11144471	220154978	23044395	38	3938										
PTPRN	5798	genome.wustl.edu	37	chr2	220164721	220164721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ccttacttctgatcagtgacGatgtagccatattcctctgc	7	12	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:220164721G>A	ENST00000295718.2	-	9	1662	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.I474I|PTPRN_ENST00000423636.2_Silent_p.I384I	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	474					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATCAGTGACGATGTAGCCAT	0.592																																																	0													57	59	58					2																	220164721		2203	4300	6503	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1422C>T	2.37:g.220164721G>A			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I474	ENST00000295718.2	37	c.1422	CCDS2440.1	2																																																																																			PTPRN	-	pfam_Receptor_IA-2		0.592	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	G			220164721	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	silent	SNP	0.984	A	A	220164721	G	A	220164721	2	1	26	1	0	0	0	0	0	0	0	1	12837	1048	37	1		1	PTPRN	2	220164721	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	9743	220164721	23034652	39	3939										
SPEG	10290	genome.wustl.edu	37	chr2	220354509	220354509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gcccctgagccccctcctgaGcctaccaaggtgactgtgca	10	17	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:220354509G>T	ENST00000312358.7	+	36	8901	c.8769G>T	c.(8767-8769)gaG>gaT	p.E2923D	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2923	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCCTGAGCCTACCAAGG	0.627																																																	0													43	45	45					2																	220354509		1851	4081	5932	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8769G>T	2.37:g.220354509G>T	ENSP00000311684:p.Glu2923Asp		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2923D	ENST00000312358.7	37	c.8769	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594544	0.13875	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63744	-0.06	4.34	2.44	0.29823	.	0.488658	0.16498	N	0.211820	T	0.37237	0.0996	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21827	-1.0234	10	0.52906	T	0.07	.	5.9779	0.19391	0.1122:0.2619:0.626:0.0	.	2923	Q15772	SPEG_HUMAN	D	2923	ENSP00000311684:E2923D	ENSP00000265327:E2923D	E	+	3	2	SPEG	220062753	0.951000	0.32395	1.000000	0.80357	0.225000	0.24961	1.146000	0.31589	1.068000	0.40764	-0.381000	0.06696	GAG	SPEG	-	NULL		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220354509	1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	0.995	T	T	220354509	G	T	220354509	3	4	26	1	0	0	0	0	1	0	0	0	15066	962	34	4	8923	4	SPEG	2	220354509	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	189788	220354509	22844864	40	3940										
MFF	56947	genome.wustl.edu	37	chr2	228221826	228221826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	taatagctggctctggtttcGccgctagaggtaacatcagc	11	10	2	1	rs62190918		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:228221826G>C	ENST00000353339.3	+	11	1463	c.1022G>C	c.(1021-1023)cGc>cCc	p.R341P	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.R217P|MFF_ENST00000392059.1_Missense_Mutation_p.R341P|MFF_ENST00000409616.1_Missense_Mutation_p.R237P|MFF_ENST00000304593.9_Missense_Mutation_p.R290P|MFF_ENST00000409565.1_Missense_Mutation_p.R217P|MFF_ENST00000349901.7_Missense_Mutation_p.R237P|MFF_ENST00000524634.1_Missense_Mutation_p.R88P|MFF_ENST00000337110.7_Missense_Mutation_p.R242P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	341					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CTCTGGTTTCGCCGCTAGAGG	0.403																																																	0													108	94	99					2																	228221826		2203	4300	6503	SO:0001583	missense	56947			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.1022G>C	2.37:g.228221826G>C	ENSP00000302037:p.Arg341Pro		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.R341P	ENST00000353339.3	37	c.1022	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759412	0.89932	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.35973	1.28;1.28	6.07	6.07	0.98685	.	0.052545	0.85682	D	0.000000	T	0.61211	0.2329	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.974;0.993;0.99;0.981;0.989	T	0.59306	-0.7479	10	0.72032	D	0.01	-8.0328	20.6593	0.99626	0.0:0.0:1.0:0.0	.	217;242;237;290;341	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	P	290;341;217;217;237;242;88;237;341;153	ENSP00000302037:R341P;ENSP00000375912:R341P	ENSP00000304898:R290P	R	+	2	0	MFF	227930070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.066000	0.93949	2.885000	0.99019	0.655000	0.94253	CGC	MFF	-	pfam_FATE/Miff/Tango-11		0.403	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	G	NM_020194		228221826	1	no_errors	ENST00000353339	ensembl	human	known	70_37	missense	SNP	1.000	C	C	228221826	G	C	228221826	3	2	26	1	0	0	0	0	1	0	0	0	9542	1087	38	2	1056	2	MFF	2	228221826	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	7867317	228221826	14977547	41	3941										
CAPN10	11132	genome.wustl.edu	37	chr2	241535885	241535885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cccagcaccttcctgaaggaCgcgccaggggagttcctgct	12	15	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:241535885C>T	ENST00000391984.2	+	8	1624	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.D476D	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	476	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCCTGAAGGACGCGCCAGGGG	0.657																																																	0													57	62	61					2																	241535885		1994	4160	6154	SO:0001819	synonymous_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1428C>T	2.37:g.241535885C>T			A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D476	ENST00000391984.2	37	c.1428	CCDS42838.1	2																																																																																			CAPN10	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease		0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	C	NM_023083		241535885	1	no_errors	ENST00000391984	ensembl	human	known	70_37	silent	SNP	0.076	T	T	241535885	C	T	241535885	2	4	26	1	0	0	0	0	0	0	0	1	2628	535	19	2		2	CAPN10	2	241535885	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	13314059	241535885	1663488	42	3942										
OXNAD1	92106	genome.wustl.edu	37	chr3	16313177	16313177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctattaaagcataatgaaatCcaaaaggaaaactgatcaca	5	7	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:16313177C>T	ENST00000285083.5	+	4	596	c.131C>T	c.(130-132)tCc>tTc	p.S44F	OXNAD1_ENST00000435829.2_Missense_Mutation_p.S62F|OXNAD1_ENST00000605932.1_Missense_Mutation_p.S44F|OXNAD1_ENST00000606098.1_Missense_Mutation_p.S44F|OXNAD1_ENST00000544043.1_Missense_Mutation_p.S62F	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	44						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						ATAATGAAATCCAAAAGGAAA	0.328																																																	0													86	86	86					3																	16313177		2203	4300	6503	SO:0001583	missense	92106			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.131C>T	3.37:g.16313177C>T	ENSP00000285083:p.Ser44Phe		Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.S62F	ENST00000285083.5	37	c.185	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440588	0.63067	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.25912	2.16;1.77;2.14	5.86	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.76494	0.999;0.995	D;P	0.71870	0.975;0.873	T	0.45920	-0.9228	10	0.72032	D	0.01	-6.5096	10.6119	0.45427	0.0:0.9123:0.0:0.0877	.	62;44	F5H620;Q96HP4	.;OXND1_HUMAN	F	44;44;62	ENSP00000285083:S44F;ENSP00000389872:S44F;ENSP00000437967:S62F	ENSP00000285083:S44F	S	+	2	0	OXNAD1	16288181	0.997000	0.39634	1.000000	0.80357	0.707000	0.40811	4.071000	0.57556	1.477000	0.48234	0.650000	0.86243	TCC	OXNAD1	-	NULL		0.328	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1	C	NM_138381		16313177	1	no_errors	ENST00000544043	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16313177	C	T	16313177	3	4	26	1	0	0	0	0	1	0	0	0	11357	855	30	1	137	1	OXNAD1	3	16313177	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		16313177	181709253	43	3943										
GPR15	2838	genome.wustl.edu	37	chr3	98251163	98251163	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gggtggataaagaagcatctCtaggactgtggaggacgggc	17	6	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:98251163C>G	ENST00000284311.3	+	1	421	c.286C>G	c.(286-288)Cta>Gta	p.L96V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	96					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AGAAGCATCTCTAGGACTGTG	0.502																																																	0													77	78	77					3																	98251163		2203	4300	6503	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.286C>G	3.37:g.98251163C>G	ENSP00000284311:p.Leu96Val		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.L96V	ENST00000284311.3	37	c.286	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	C	1.810	-0.474787	0.04414	.	.	ENSG00000154165	ENST00000284311	T	0.38722	1.12	4.8	-2.29	0.06805	GPCR, rhodopsin-like superfamily (1);	1.808950	0.03222	N	0.177676	T	0.35307	0.0927	L	0.45698	1.435	0.09310	N	1	B	0.25390	0.125	B	0.24394	0.053	T	0.20538	-1.0272	10	0.15066	T	0.55	-0.1097	10.307	0.43687	0.0:0.6117:0.0:0.3883	.	96	P49685	GPR15_HUMAN	V	96	ENSP00000284311:L96V	ENSP00000284311:L96V	L	+	1	2	GPR15	99733853	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	-0.163000	0.09997	-0.469000	0.06911	-1.279000	0.01387	CTA	GPR15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt		0.502	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	C			98251163	1	no_errors	ENST00000284311	ensembl	human	known	70_37	missense	SNP	0.002	G	G	98251163	C	G	98251163	3	3	26	1	0	0	0	0	1	0	0	0	6674	912	32	1	288	1	GPR15	3	98251163	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	81937986	98251163	99771267	44	3944										
PIK3R4	30849	genome.wustl.edu	37	chr3	130399528	130399528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggaactagtacttcctgcaaCaacataggacctttctgggt	9	10	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:130399528C>T	ENST00000356763.3	-	19	4392	c.3835G>A	c.(3835-3837)Gtt>Att	p.V1279I	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1279					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTTCCTGCAACAACATAGGAC	0.408																																																	0													103	101	102					3																	130399528		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3835G>A	3.37:g.130399528C>T	ENSP00000349205:p.Val1279Ile		Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1279I	ENST00000356763.3	37	c.3835	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988018	0.35036	.	.	ENSG00000196455	ENST00000356763	T	0.05786	3.39	5.62	3.85	0.44370	WD40 repeat-like-containing domain (1);	0.057195	0.64402	D	0.000001	T	0.04861	0.0131	L	0.31065	0.9	0.45056	D	0.998078	B	0.14438	0.01	B	0.14578	0.011	T	0.38001	-0.9681	10	0.13853	T	0.58	-20.1722	9.7157	0.40274	0.0:0.7882:0.0:0.2118	.	1279	Q99570	PI3R4_HUMAN	I	1279	ENSP00000349205:V1279I	ENSP00000349205:V1279I	V	-	1	0	PIK3R4	131882218	1.000000	0.71417	0.049000	0.19019	0.931000	0.56810	3.726000	0.54977	0.754000	0.32968	-0.147000	0.13772	GTT	PIK3R4	-	superfamily_WD40_repeat_dom		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	C	NM_014602		130399528	-1	no_errors	ENST00000356763	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130399528	C	T	130399528	3	4	26	1	0	0	0	0	1	0	0	0	11945	478	17	4	249	4	PIK3R4	3	130399528	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	32148365	130399528	67622902	45	3945										
PDS5A	23244	genome.wustl.edu	37	chr4	39924314	39924314	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	actccatcaccttccatgatGatagaactcatcaaatctag	4	12	4	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:39924314G>A	ENST00000303538.8	-	6	1121	c.582C>T	c.(580-582)atC>atT	p.I194I	PDS5A_ENST00000503396.1_Silent_p.I194I	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTCCATGATGATAGAACTCA	0.333																																																	0													107	100	103					4																	39924314		1875	4106	5981	SO:0001819	synonymous_variant	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.582C>T	4.37:g.39924314G>A				Silent	SNP	superfamily_ARM-type_fold	p.I194	ENST00000303538.8	37	c.582	CCDS47045.1	4																																																																																			PDS5A	-	superfamily_ARM-type_fold		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	G	NM_015200		39924314	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39924314	G	A	39924314	2	1	26	1	0	0	0	0	0	0	0	1	11715	1280	45	1		1	PDS5A	4	39924314	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		39924314	151229962	46	3946										
PTPN13	5783	genome.wustl.edu	37	chr4	87653763	87653763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agactaagaaagggaagaatGaggataaccgaaggaaagta	13	3	0	4			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:87653763G>A	ENST00000411767.2	+	12	1765	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PTPN13_ENST00000436978.1_Missense_Mutation_p.E568K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E568K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E568K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E568K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	568					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGGAAGAATGAGGATAACCG	0.308																																																	0													108	99	102					4																	87653763		1851	4090	5941	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1702G>A	4.37:g.87653763G>A	ENSP00000407249:p.Glu568Lys		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E568K	ENST00000411767.2	37	c.1702	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890906	0.52014	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53423	0.62;0.65;0.72;0.62;0.65	5.65	5.65	0.86999	Band 4.1 domain (1);	0.395176	0.21084	N	0.080427	T	0.39306	0.1073	N	0.19112	0.55	0.80722	D	1	P;B;B;P	0.41784	0.762;0.259;0.27;0.532	B;B;B;B	0.40901	0.343;0.188;0.112;0.302	T	0.17137	-1.0379	10	0.32370	T	0.25	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	568;568;568;568	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	568;568;568;568;568;536	ENSP00000408368:E568K;ENSP00000394794:E568K;ENSP00000322675:E568K;ENSP00000407249:E568K;ENSP00000426626:E568K	ENSP00000322675:E568K	E	+	1	0	PTPN13	87872787	1.000000	0.71417	0.998000	0.56505	0.354000	0.29330	9.795000	0.99099	2.653000	0.90120	0.563000	0.77884	GAG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,smart_Band_41_domain		0.308	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87653763	1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87653763	G	A	87653763	3	1	26	1	0	0	0	0	1	0	0	0	12810	1291	45	1	1744	1	PTPN13	4	87653763	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	47729449	87653763	103500513	47	3947										
NUDT9	53343	genome.wustl.edu	37	chr4	88356180	88356180	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tcttaataccaacgtcatgtCtggttctaatggttccaaag	7	9	4	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:88356180C>T	ENST00000302174.4	+	2	479	c.155C>T	c.(154-156)tCt>tTt	p.S52F	NUDT9_ENST00000473942.1_Missense_Mutation_p.S2F	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	52					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AACGTCATGTCTGGTTCTAAT	0.358																																																	0													74	73	73					4																	88356180		2203	4300	6503	SO:0001583	missense	53343			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.155C>T	4.37:g.88356180C>T	ENSP00000303575:p.Ser52Phe		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.S52F	ENST00000302174.4	37	c.155	CCDS3620.1	4	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189985	0.38707	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.76316	-1.01;2.12;2.38;2.35	5.05	3.33	0.38152	.	0.583487	0.18339	N	0.144236	T	0.72716	0.3495	M	0.70595	2.14	0.27439	N	0.953779	B;B	0.21905	0.008;0.062	B;B	0.15870	0.009;0.014	T	0.65541	-0.6143	10	0.52906	T	0.07	-3.7158	6.8457	0.23987	0.0:0.7001:0.0:0.2999	.	52;52	Q96KB3;Q9BW91	.;NUDT9_HUMAN	F	52;2;2;52	ENSP00000303575:S52F;ENSP00000424702:S2F;ENSP00000421811:S2F;ENSP00000410270:S52F	ENSP00000303575:S52F	S	+	2	0	NUDT9	88575204	0.490000	0.26012	0.975000	0.42487	0.960000	0.62799	0.835000	0.27531	0.642000	0.30620	0.467000	0.42956	TCT	NUDT9	-	NULL		0.358	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT9	HGNC	protein_coding	OTTHUMT00000253035.2	C			88356180	1	no_errors	ENST00000302174	ensembl	human	known	70_37	missense	SNP	0.960	T	T	88356180	C	T	88356180	3	4	26	1	0	0	0	0	1	0	0	0	10770	913	32	1	161	1	NUDT9	4	88356180	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	702417	88356180	102798096	48	3948										
GALNTL6	442117	genome.wustl.edu	37	chr4	173942728	173942728	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cacaacagccccgttacactCtatgactgtcatggcatgaa	7	13	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:173942728C>G	ENST00000506823.1	+	12	2247	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	GALNTL6_ENST00000508122.1_Silent_p.L513L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCGTTACACTCTATGACTGTC	0.468																																																	0													158	152	154					4																	173942728		2203	4300	6503	SO:0001819	synonymous_variant	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1590C>G	4.37:g.173942728C>G			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L530	ENST00000506823.1	37	c.1590	CCDS34104.1	4																																																																																			GALNTL6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.468	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	C	NM_001034845		173942728	1	no_errors	ENST00000506823	ensembl	human	known	70_37	silent	SNP	0.903	G	G	173942728	C	G	173942728	2	3	26	1	0	0	0	0	0	0	0	1	6244	900	32	1		1	GALNTL6	4	173942728	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	85586548	173942728	17211548	49	3949										
SEMA5A	9037	genome.wustl.edu	37	chr5	9122803	9122803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	atctccatgccagggccctcGcactgccagccaccacactg	8	19	1	0	rs376581828		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:9122803G>A	ENST00000382496.5	-	14	2411	c.1746C>T	c.(1744-1746)tgC>tgT	p.C582C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	582	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGGCCCTCGCACTGCCAGC	0.627																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	41	45	44		1746	-5.1	0	5		44	0,8600		0,0,4300	no	coding-synonymous	SEMA5A	NM_003966.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		582/1075	9122803	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1746C>T	5.37:g.9122803G>A			D3DTC6|O60408|Q1RLL9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.C582	ENST00000382496.5	37	c.1746	CCDS3875.1	5																																																																																			SEMA5A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.627	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	G			9122803	-1	no_errors	ENST00000382496	ensembl	human	known	70_37	silent	SNP	0.023	A	A	9122803	G	A	9122803	2	1	26	1	0	0	0	0	0	0	0	1	14067	1079	38	2		2	SEMA5A	5	9122803	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		9122803	171792457	50	3950										
MARCH6	10299	genome.wustl.edu	37	chr5	10415612	10415612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	attttcagtatttgctggccGttggttaatgtcgttttgga	11	5	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:10415612G>A	ENST00000274140.5	+	21	2111	c.1979G>A	c.(1978-1980)cGt>cAt	p.R660H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R612H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R358H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R555H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	660					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGCTGGCCGTTGGTTAATG	0.413																																																	0													242	216	225					5																	10415612		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1979G>A	5.37:g.10415612G>A	ENSP00000274140:p.Arg660His		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R660H	ENST00000274140.5	37	c.1979	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.276706	0.95459	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.998	T	0.75091	-0.3440	10	0.87932	D	0	-22.0404	19.6218	0.95660	0.0:0.0:1.0:0.0	.	555;612;240;660	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	612;555;660;358	ENSP00000414643:R612H;ENSP00000425930:R555H;ENSP00000274140:R660H;ENSP00000424512:R358H	ENSP00000274140:R660H	R	+	2	0	MARCH6	10468612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.465000	0.97660	2.625000	0.88918	0.563000	0.77884	CGT	MARCH6	-	NULL		0.413	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10415612	1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10415612	G	A	10415612	3	1	26	1	0	0	0	0	1	0	0	0	9328	1145	40	2	2061	2	MARCH6	5	10415612	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1292809	10415612	170499648	51	3951										
BDP1	55814	genome.wustl.edu	37	chr5	70808182	70808182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agatttcttcacagactcatGaatctgataaaacagaagtc	6	8	4	5			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:70808182G>A	ENST00000358731.4	+	18	4437	c.4174G>A	c.(4174-4176)Gaa>Aaa	p.E1392K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1392					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGACTCATGAATCTGATAA	0.338																																																	0													87	88	88					5																	70808182		1794	4072	5866	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4174G>A	5.37:g.70808182G>A	ENSP00000351575:p.Glu1392Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1392K	ENST00000358731.4	37	c.4174	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752451	0.49362	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10382	2.88	4.11	4.11	0.48088	.	0.833560	0.10350	N	0.685244	T	0.21718	0.0523	M	0.68952	2.095	0.52501	D	0.999953	P;P	0.44139	0.827;0.827	P;P	0.49192	0.602;0.602	T	0.01133	-1.1441	10	0.42905	T	0.14	.	12.0651	0.53583	0.0:0.0:1.0:0.0	.	1392;1392	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	1392;972	ENSP00000351575:E1392K	ENSP00000351575:E1392K	E	+	1	0	BDP1	70843938	0.005000	0.15991	0.021000	0.16686	0.119000	0.20118	1.189000	0.32114	2.285000	0.76669	0.655000	0.94253	GAA	BDP1	-	NULL		0.338	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70808182	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.042	A	A	70808182	G	A	70808182	3	1	26	1	0	0	0	0	1	0	0	0	1396	1291	45	1	4244	1	BDP1	5	70808182	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	60392570	70808182	110107078	52	3952										
HEXB	3074	genome.wustl.edu	37	chr5	73981268	73981268	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gcgctgtggcccctgccgctCttggtgaagatgaccccgaa	13	14	1	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:73981268C>T	ENST00000261416.7	+	1	300	c.183C>T	c.(181-183)ctC>ctT	p.L61L	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	61					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CCCTGCCGCTCTTGGTGAAGA	0.706																																					Melanoma(66;841 1270 13391 18706 27225)												0													11	14	13					5																	73981268		2193	4296	6489	SO:0001819	synonymous_variant	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.183C>T	5.37:g.73981268C>T				Silent	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.L61	ENST00000261416.7	37	c.183	CCDS4022.1	5																																																																																			HEXB	-	NULL		0.706	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	C	NM_000521		73981268	1	no_errors	ENST00000261416	ensembl	human	known	70_37	silent	SNP	0.000	T	T	73981268	C	T	73981268	2	4	26	1	0	0	0	0	0	0	0	1	7094	900	32	1		1	HEXB	5	73981268	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	3173086	73981268	106933992	53	3953										
TRPC7	57113	genome.wustl.edu	37	chr5	135692672	135692672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gcgggctgagcgtcaggcgcTggccctgcgcgaaggccggg	20	13	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:135692672T>C	ENST00000513104.1	-	2	686	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	TRPC7_ENST00000426057.2_Missense_Mutation_p.Q135R|TRPC7_ENST00000355180.3_Missense_Mutation_p.Q135R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	135					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTCAGGCGCTGGCCCTGCGC	0.672																																																	0													62	70	67					5																	135692672		2203	4300	6503	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.404A>G	5.37:g.135692672T>C	ENSP00000426070:p.Gln135Arg		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.Q135R	ENST00000513104.1	37	c.404	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634171	0.29068	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.77620	-0.94;-1.11;-1.02	5.14	3.98	0.46160	Ankyrin repeat-containing domain (2);	0.185457	0.49916	D	0.000122	T	0.62048	0.2396	N	0.21373	0.66	0.22541	N	0.999008	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.12837	0.001;0.007;0.004;0.008	T	0.43861	-0.9365	10	0.17369	T	0.5	-13.1486	10.7335	0.46111	0.0:0.0742:0.0:0.9258	.	135;135;135;135	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	R	135	ENSP00000347312:Q135R;ENSP00000441628:Q135R;ENSP00000426070:Q135R	ENSP00000265193:Q135R	Q	-	2	0	TRPC7	135720571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.886000	0.63149	0.982000	0.38575	0.459000	0.35465	CAG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	T	NM_020389		135692672	-1	no_errors	ENST00000513104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135692672	T	C	135692672	3	2	26	1	0	0	0	0	1	0	0	0	16615	1580	55	5	2228	5	TRPC7	5	135692672	Missense_Mutation	SNP	T	TCGA-C5-A1MN-01A-11D-A14W-08	61711404	135692672	45222588	54	3954										
FAT2	2196	genome.wustl.edu	37	chr5	150887058	150887058	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ccgacagtgcttatgataatGaacgccacggccactgtgat	10	11	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:150887058G>C	ENST00000261800.5	-	22	12186	c.12174C>G	c.(12172-12174)ttC>ttG	p.F4058L	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4058					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATGATAATGAACGCCACGG	0.577																																																	0													61	63	62					5																	150887058		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12174C>G	5.37:g.150887058G>C	ENSP00000261800:p.Phe4058Leu		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F4058L	ENST00000261800.5	37	c.12174	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.959|0.959	-0.704037|-0.704037	0.03255|0.03255	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.70869|.	-0.52|.	5.46|5.46	-1.24|-1.24	0.09435|0.09435	Concanavalin A-like lectin/glucanase, subgroup (1);|.	1.630070|.	0.03423|.	N|.	0.206586|.	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.28459|0.28459	-1.0043|-1.0043	10|5	0.02654|.	T|.	1|.	.|.	8.342|8.342	0.32249|0.32249	0.0644:0.402:0.4292:0.1044|0.0644:0.402:0.4292:0.1044	.|.	4058;1163|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	L|D	4058|831	ENSP00000261800:F4058L|.	ENSP00000261800:F4058L|.	F|H	-|-	3|1	2|0	FAT2|FAT2	150867251|150867251	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.015000|0.015000	0.13355|0.13355	-1.011000|-1.011000	0.03391|0.03391	-0.808000|-0.808000	0.03180|0.03180	TTC|CAT	FAT2	-	NULL		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150887058	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150887058	G	C	150887058	3	2	26	1	0	0	0	0	1	0	0	0	5708	1281	45	1	883	1	FAT2	5	150887058	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	15194386	150887058	30028202	55	3955										
DOK3	79930	genome.wustl.edu	37	chr5	176936488	176936488	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gtccccaccttgccaaacttGacatgctgctggtagaggat	10	12	0	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:176936488G>T	ENST00000357198.4	-	2	226	c.222C>A	c.(220-222)gtC>gtA	p.V74V	DOK3_ENST00000501403.2_Silent_p.V18V|DOK3_ENST00000377112.4_Silent_p.V18V|DOK3_ENST00000312943.6_Silent_p.V18V	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	74	PH.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCCAAACTTGACATGCTGCT	0.637																																																	0													80	82	81					5																	176936488		2203	4300	6503	SO:0001819	synonymous_variant	79930			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.222C>A	5.37:g.176936488G>T			E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.V74	ENST00000357198.4	37	c.222	CCDS4426.1	5																																																																																			DOK3	-	smart_Pleckstrin_homology		0.637	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	G	NM_024872		176936488	-1	no_errors	ENST00000357198	ensembl	human	known	70_37	silent	SNP	0.495	T	T	176936488	G	T	176936488	2	4	26	1	0	0	0	0	0	0	0	1	4708	1277	45	3		3	DOK3	5	176936488	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	26049430	176936488	3978772	56	3956										
TFAP2A	7020	genome.wustl.edu	37	chr6	10404765	10404765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggagcactccgcccagcagcGacgcgttgagacactcgggt	14	14	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:10404765G>A	ENST00000482890.1	-	5	1092	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TFAP2A_ENST00000379613.3_Missense_Mutation_p.S249L|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S243L|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S247L|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S241L|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	247					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCCAGCAGCGACGCGTTGAG	0.746																																																	0													20	18	19					6																	10404765		2203	4299	6502	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.740C>T	6.37:g.10404765G>A	ENSP00000418541:p.Ser247Leu		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.S247L	ENST00000482890.1	37	c.740	CCDS4510.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.154078|6.154078	0.97329|0.97329	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000475264|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450	.|D;D;D;D;D;D;D	.|0.98792	.|-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Transcription factor AP-2, C-terminal (1);	.|0.111043	.|0.64402	.|D	.|0.000005	D|D	0.99414|0.99414	0.9793|0.9793	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	.|P;D;P;P;P	.|0.76494	.|0.931;0.999;0.824;0.824;0.882	.|B;D;B;B;B	.|0.79784	.|0.307;0.993;0.202;0.202;0.418	D|D	0.98808|0.98808	1.0742|1.0742	5|10	.|0.87932	.|D	.|0	-5.8201|-5.8201	18.9331|18.9331	0.92574|0.92574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|247;249;243;247;241	.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6	.|.;.;.;AP2A_HUMAN;.	C|L	152|249;247;243;241;247;247;104	.|ENSP00000368933:S249L;ENSP00000368924:S247L;ENSP00000316516:S243L;ENSP00000368928:S241L;ENSP00000418541:S247L;ENSP00000417495:S247L;ENSP00000419961:S104L	.|ENSP00000316516:S243L	R|S	-|-	1|2	0|0	TFAP2A|TFAP2A	10512751|10512751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.391000|9.391000	0.97249|0.97249	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CGC|TCG	TFAP2A	-	pfam_TF_AP2_C		0.746	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	G	NM_003220		10404765	-1	no_errors	ENST00000379604	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10404765	G	A	10404765	3	1	26	1	0	0	0	0	1	0	0	0	15817	1059	37	1	589	1	TFAP2A	6	10404765	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		10404765	160710302	57	3957										
KIAA0319	9856	genome.wustl.edu	37	chr6	24569028	24569028	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cccttcttcacagccacagtGagggtggacgtgctgctcag	12	13	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:24569028G>A	ENST00000378214.3	-	13	2645	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	KIAA0319_ENST00000543707.1_Silent_p.L707L|KIAA0319_ENST00000535378.1_Silent_p.L698L|KIAA0319_ENST00000430948.2_Silent_p.L662L|KIAA0319_ENST00000537886.1_Silent_p.L707L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	707	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCCACAGTGAGGGTGGACG	0.572																																																	0													123	101	108					6																	24569028		2203	4300	6503	SO:0001819	synonymous_variant	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2121C>T	6.37:g.24569028G>A			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.L707	ENST00000378214.3	37	c.2121	CCDS34348.1	6																																																																																			KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom		0.572	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	G	NM_014809		24569028	-1	no_errors	ENST00000378214	ensembl	human	known	70_37	silent	SNP	0.821	A	A	24569028	G	A	24569028	2	1	26	1	0	0	0	0	0	0	0	1	8188	1277	45	1		1	KIAA0319	6	24569028	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	14164263	24569028	146546039	58	3958										
TCTE1	202500	genome.wustl.edu	37	chr6	44254102	44254102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gaacatgcgtttccagctgcCgccatggtgggccacgtggc	14	13	0	0	rs149566851		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:44254102C>T	ENST00000371505.4	-	3	567	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	149										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCTGCCGCCATGGTGG	0.612																																																	0													69	62	64					6																	44254102		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.445G>A	6.37:g.44254102C>T	ENSP00000360560:p.Gly149Ser		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G149S	ENST00000371505.4	37	c.445	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172677	0.38413	.	.	ENSG00000146221	ENST00000371505	T	0.53857	0.6	4.95	0.751	0.18392	.	0.494509	0.24332	N	0.039444	T	0.22666	0.0547	M	0.66939	2.045	0.31913	N	0.614463	B	0.29508	0.246	B	0.15484	0.013	T	0.02698	-1.1122	10	0.42905	T	0.14	-22.0618	3.2087	0.06675	0.1282:0.533:0.1253:0.2135	.	149	Q5JU00	TCTE1_HUMAN	S	149	ENSP00000360560:G149S	ENSP00000360560:G149S	G	-	1	0	TCTE1	44362080	0.194000	0.23325	0.977000	0.42913	0.826000	0.46750	1.144000	0.31565	1.073000	0.40885	0.563000	0.77884	GGC	TCTE1	-	NULL		0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	C	NM_182539		44254102	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	missense	SNP	0.236	T	T	44254102	C	T	44254102	3	4	26	1	0	0	0	0	1	0	0	0	15747	652	23	2	1072	2	TCTE1	6	44254102	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	19685074	44254102	126860965	59	3959										
COL21A1	81578	genome.wustl.edu	37	chr6	56006594	56006594	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgtgtttaccttgtcaccatCtcgccctggttctcctttgt	7	13	3	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:56006594C>T	ENST00000244728.5	-	12	1928	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D508N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D511N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	511	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGTCACCATCTCGCCCTGGT	0.373																																																	0													177	161	166					6																	56006594		1926	4140	6066	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1531G>A	6.37:g.56006594C>T	ENSP00000244728:p.Asp511Asn		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.D511N	ENST00000244728.5	37	c.1531	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512012	0.44660	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.83755	-1.76;-1.76;-1.76	5.15	5.15	0.70609	.	0.097942	0.42053	D	0.000771	T	0.76758	0.4032	L	0.39898	1.24	0.80722	D	1	P;P	0.51537	0.89;0.946	B;P	0.51487	0.245;0.671	T	0.74928	-0.3497	10	0.28530	T	0.3	.	14.4967	0.67694	0.0:1.0:0.0:0.0	.	508;511	Q96P44-3;Q96P44	.;COLA1_HUMAN	N	511;508;511;508	ENSP00000244728:D511N;ENSP00000359855:D508N;ENSP00000444384:D511N	ENSP00000244728:D511N	D	-	1	0	COL21A1	56114553	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.456000	0.53000	2.565000	0.86533	0.655000	0.94253	GAT	COL21A1	-	pfam_Collagen		0.373	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	C			56006594	-1	no_errors	ENST00000244728	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56006594	C	T	56006594	3	4	26	1	0	0	0	0	1	0	0	0	3685	913	32	1	1418	1	COL21A1	6	56006594	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	11752492	56006594	115108473	60	3960										
ASCC3	10973	genome.wustl.edu	37	chr6	101312040	101312040	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aaaaattttattatcttcttCcatgtcaggcccaaatctaa	3	9	4	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:101312040C>T	ENST00000369162.2	-	3	485	c.141G>A	c.(139-141)tgG>tgA	p.W47*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.W47*|ASCC3_ENST00000369143.2_Nonsense_Mutation_p.W47*	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	47					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTATCTTCTTCCATGTCAGGC	0.299																																																	0													103	115	111					6																	101312040		2201	4298	6499	SO:0001587	stop_gained	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.141G>A	6.37:g.101312040C>T	ENSP00000358159:p.Trp47*		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W47*	ENST00000369162.2	37	c.141	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	C	38	7.240920	0.98157	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723;ENST00000369143	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4886	0.84191	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000320777:W47X	W	-	3	0	ASCC3	101418761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.479000	0.83701	0.655000	0.94253	TGG	ASCC3	-	NULL		0.299	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	C	NM_006828		101312040	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	101312040	C	T	101312040	4	4	26	1	0	0	0	0	0	1	0	0	1034	856	30	1	6726	1	ASCC3	6	101312040	Nonsense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	45305446	101312040	69803027	61	3961										
SOBP	55084	genome.wustl.edu	37	chr6	107908338	107908338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cccagcagcactatgctaagGaaactccaaggcttgccttc	8	14	0	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:107908338G>A	ENST00000317357.5	+	5	1287	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTATGCTAAGGAAACTCCAAG	0.378																																																	0													164	154	157					6																	107908338		1856	4094	5950	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.628G>A	6.37:g.107908338G>A	ENSP00000318900:p.Glu210Lys			Missense_Mutation	SNP	NULL	p.E210K	ENST00000317357.5	37	c.628	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155819	0.78114	.	.	ENSG00000112320	ENST00000317357	T	0.14893	2.47	5.86	5.86	0.93980	.	0.068453	0.56097	D	0.000026	T	0.20941	0.0504	L	0.29908	0.895	0.58432	D	0.999998	D	0.63880	0.993	P	0.58520	0.84	T	0.01118	-1.1446	10	0.72032	D	0.01	-8.2874	20.2019	0.98263	0.0:0.0:1.0:0.0	.	210	A7XYQ1	SOBP_HUMAN	K	210	ENSP00000318900:E210K	ENSP00000318900:E210K	E	+	1	0	SOBP	108015031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.601000	0.90864	2.776000	0.95493	0.655000	0.94253	GAA	SOBP	-	NULL		0.378	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	G	NM_018013		107908338	1	no_errors	ENST00000317357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107908338	G	A	107908338	3	1	26	1	0	0	0	0	1	0	0	0	14942	1175	41	1	646	1	SOBP	6	107908338	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	6596298	107908338	63206729	62	3962										
FAM184A	79632	genome.wustl.edu	37	chr6	119345412	119345412	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tcataatcctcaattagtttCttccgttcaagtcttagctc	4	11	5	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:119345412C>A	ENST00000338891.7	-	2	1169	c.726G>T	c.(724-726)aaG>aaT	p.K242N	FAM184A_ENST00000522284.1_Missense_Mutation_p.K122N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K122N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K242N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K122N|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	242						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAATTAGTTTCTTCCGTTCAA	0.408																																																	0													100	90	93					6																	119345412		1902	4112	6014	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.726G>T	6.37:g.119345412C>A	ENSP00000342604:p.Lys242Asn		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.K242N	ENST00000338891.7	37	c.726	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	9.734	1.162971	0.21538	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00358	7.88;7.88;7.88;7.88;7.88	5.51	-3.79	0.04320	.	0.262385	0.41500	D	0.000867	T	0.00178	0.0005	L	0.54323	1.7	0.34809	D	0.737494	D;P;D	0.55800	0.973;0.694;0.973	P;B;P	0.56434	0.798;0.436;0.705	T	0.55774	-0.8088	10	0.23302	T	0.38	-13.4737	13.0599	0.59002	0.0:0.5344:0.0:0.4656	.	242;122;242	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	N	242;122;122;242;122	ENSP00000342604:K242N;ENSP00000326608:K122N;ENSP00000357460:K122N;ENSP00000430442:K242N;ENSP00000429826:K122N	ENSP00000342604:K242N	K	-	3	2	FAM184A	119387111	0.996000	0.38824	0.000000	0.03702	0.003000	0.03518	0.479000	0.22228	-0.836000	0.04229	-0.345000	0.07892	AAG	FAM184A	-	NULL		0.408	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	C	NM_024581		119345412	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	0.200	A	A	119345412	C	A	119345412	3	1	26	1	0	0	0	0	1	0	0	0	5526	912	32	3	2764	3	FAM184A	6	119345412	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	11437074	119345412	51769655	63	3963										
AHI1	54806	genome.wustl.edu	37	chr6	135679284	135679284	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tcttaccgttggtgctgtatCtacctgatggttacaaggct	10	9	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:135679284C>G	ENST00000367800.4	-	22	3367	c.3151G>C	c.(3151-3153)Gat>Cat	p.D1051H	AHI1_ENST00000457866.2_Missense_Mutation_p.D1051H|AHI1_ENST00000417892.2_Missense_Mutation_p.D405H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1051	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGTGCTGTATCTACCTGATGG	0.353																																																	0													306	295	298					6																	135679284		1861	4100	5961	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3151G>C	6.37:g.135679284C>G	ENSP00000356774:p.Asp1051His		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.D1051H	ENST00000367800.4	37	c.3151	CCDS47483.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.647491|2.647491	0.47258|0.47258	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602|ENST00000367799	T;T;T;T|.	0.63417|.	0.24;0.24;-0.04;0.24|.	4.97|4.97	4.1|4.1	0.47936|0.47936	Src homology-3 domain (1);|.	0.563674|.	0.19257|.	N|.	0.118774|.	T|.	0.43144|.	0.1234|.	L|L	0.39898|0.39898	1.24|1.24	0.41468|0.41468	D|D	0.988081|0.988081	D;D|.	0.76494|.	0.98;0.999|.	P;D|.	0.69142|.	0.557;0.962|.	T|.	0.38001|.	-0.9681|.	10|.	0.45353|.	T|.	0.12|.	-22.9635|-22.9635	12.2043|12.2043	0.54342|0.54342	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	1051;1051|.	Q8N157;Q4FD35|.	AHI1_HUMAN;.|.	H|Y	1051;1051;405;1051|550	ENSP00000356774:D1051H;ENSP00000388650:D1051H;ENSP00000416867:D405H;ENSP00000265602:D1051H|.	ENSP00000265602:D1051H|.	D|X	-|-	1|3	0|2	AHI1|AHI1	135720977|135720977	0.997000|0.997000	0.39634|0.39634	0.368000|0.368000	0.25939|0.25939	0.955000|0.955000	0.61496|0.61496	2.968000|2.968000	0.49224|0.49224	1.418000|1.418000	0.47098|0.47098	0.557000|0.557000	0.71058|0.71058	GAT|TAG	AHI1	-	pfscan_SH3_domain		0.353	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651		135679284	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	missense	SNP	0.053	G	G	135679284	C	G	135679284	3	3	26	1	0	0	0	0	1	0	0	0	413	913	32	1	463	1	AHI1	6	135679284	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	16333872	135679284	35435783	64	3964										
PHF14	9678	genome.wustl.edu	37	chr7	11053396	11053396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgttatggagttgatggagaGagtgactctattatgagttc	13	3	1	4			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:11053396G>A	ENST00000403050.3	+	5	1520	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	PHF14_ENST00000445996.2_Silent_p.E71E	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	356					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTGATGGAGAGAGTGACTCTA	0.338																																																	0													131	118	122					7																	11053396		1849	4101	5950	SO:0001819	synonymous_variant	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1068G>A	7.37:g.11053396G>A			A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E356	ENST00000403050.3	37	c.1068	CCDS47542.1	7																																																																																			PHF14	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.338	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	G	NM_014660		11053396	1	no_errors	ENST00000403050	ensembl	human	known	70_37	silent	SNP	0.993	A	A	11053396	G	A	11053396	2	1	26	1	0	0	0	0	0	0	0	1	11849	933	33	1		1	PHF14	7	11053396	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		11053396	148085267	65	3965										
HECW1	23072	genome.wustl.edu	37	chr7	43484575	43484575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cggagaaggatgggctcagcGaggtggacacggtggccgct	19	9	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:43484575G>A	ENST00000395891.2	+	11	2409	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	HECW1_ENST00000453890.1_Missense_Mutation_p.E602K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	602					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGGCTCAGCGAGGTGGACAC	0.711																																																	0													13	17	16					7																	43484575		2125	4228	6353	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1804G>A	7.37:g.43484575G>A	ENSP00000379228:p.Glu602Lys		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E602K	ENST00000395891.2	37	c.1804	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755916	0.69648	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.37;1.3	4.88	4.88	0.63580	.	2.156610	0.01415	N	0.014151	T	0.39358	0.1075	L	0.53249	1.67	0.47994	D	0.999567	P;P	0.41710	0.76;0.76	B;B	0.30943	0.122;0.041	T	0.50608	-0.8808	10	0.29301	T	0.29	.	18.0941	0.89483	0.0:0.0:1.0:0.0	.	602;602	B4DH42;Q76N89	.;HECW1_HUMAN	K	602	ENSP00000379228:E602K;ENSP00000407774:E602K	ENSP00000265522:E602K	E	+	1	0	HECW1	43451100	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	4.797000	0.62503	2.254000	0.74563	0.558000	0.71614	GAG	HECW1	-	NULL		0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484575	1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43484575	G	A	43484575	3	1	26	1	0	0	0	0	1	0	0	0	7062	1059	37	1	1838	1	HECW1	7	43484575	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	32431179	43484575	115654088	66	3966										
ABCA13	154664	genome.wustl.edu	37	chr7	48273629	48273629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	caacagagccagtttaccacCtgtccatgcagaatatagtg	8	11	0	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:48273629C>T	ENST00000435803.1	+	8	802	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	260					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGTTTACCACCTGTCCATGCA	0.368																																																	0													91	87	88					7																	48273629		1874	4115	5989	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.778C>T	7.37:g.48273629C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L260	ENST00000435803.1	37	c.778	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48273629	1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.026	T	T	48273629	C	T	48273629	2	4	26	1	0	0	0	0	0	0	0	1	31	680	24	4		4	ABCA13	7	48273629	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	4789054	48273629	110865034	67	3967										
RFC2	5982	genome.wustl.edu	37	chr7	73657531	73657531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aagcgagtggttttagagtaGatttccatggttctcctcaa	10	7	2	2	rs143077432		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:73657531G>A	ENST00000055077.3	-	6	540	c.480C>T	c.(478-480)atC>atT	p.I160I	RFC2_ENST00000352131.3_Silent_p.I126I	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	160					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TTTTAGAGTAGATTTCCATGG	0.517																																																	0													217	182	194					7																	73657531		2203	4300	6503	SO:0001819	synonymous_variant	5982				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.480C>T	7.37:g.73657531G>A			B5BU07|D3DXG3|P32846|Q9BU93	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.I160	ENST00000055077.3	37	c.480	CCDS5568.1	7																																																																																			RFC2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.517	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC2	HGNC	protein_coding	OTTHUMT00000252459.2	G	NM_181471		73657531	-1	no_errors	ENST00000055077	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73657531	G	A	73657531	2	1	26	1	0	0	0	0	0	0	0	1	13275	932	33	1		1	RFC2	7	73657531	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	25383902	73657531	85481132	68	3968										
FZD1	8321	genome.wustl.edu	37	chr7	90894521	90894521	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	caacggcgagcggggcatctCcgtcccggaccacggctatt	13	15	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:90894521C>G	ENST00000287934.2	+	1	739	c.326C>G	c.(325-327)tCc>tGc	p.S109C		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	109					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGGGGCATCTCCGTCCCGGAC	0.701																																																	0													86	73	77					7																	90894521		2203	4300	6503	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.326C>G	7.37:g.90894521C>G	ENSP00000287934:p.Ser109Cys		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S109C	ENST00000287934.2	37	c.326	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889157	0.72524	.	.	ENSG00000157240	ENST00000287934	T	0.79033	-1.23	3.83	3.83	0.44106	Frizzled domain (1);	0.000000	0.64402	D	0.000007	T	0.80053	0.4553	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	P	0.61800	0.894	D	0.83622	0.0140	10	0.87932	D	0	.	16.2752	0.82640	0.0:1.0:0.0:0.0	.	109	Q9UP38	FZD1_HUMAN	C	109	ENSP00000287934:S109C	ENSP00000287934:S109C	S	+	2	0	FZD1	90732457	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	2.146000	0.66826	0.555000	0.69702	TCC	FZD1	-	NULL		0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	C	NM_003505		90894521	1	no_errors	ENST00000287934	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90894521	C	G	90894521	3	3	26	1	0	0	0	0	1	0	0	0	6146	855	30	1	328	1	FZD1	7	90894521	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	17236990	90894521	68244142	69	3969										
CNTNAP2	26047	genome.wustl.edu	37	chr7	146829596	146829596	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gatgagccaaatcgatatttCctcaggtcagtgaaacctat	8	9	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:146829596C>G	ENST00000361727.3	+	8	1859	c.1343C>G	c.(1342-1344)tCc>tGc	p.S448C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	448	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCGATATTTCCTCAGGTCAG	0.408										HNSCC(39;0.1)																																							0													102	86	91					7																	146829596		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1343C>G	7.37:g.146829596C>G	ENSP00000354778:p.Ser448Cys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S448C	ENST00000361727.3	37	c.1343	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710568	0.68730	.	.	ENSG00000174469	ENST00000361727	T	0.80304	-1.36	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.605009	0.14860	N	0.294161	D	0.88194	0.6371	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	D	0.87645	0.2524	10	0.62326	D	0.03	.	18.3791	0.90444	0.0:1.0:0.0:0.0	.	448	Q9UHC6	CNTP2_HUMAN	C	448	ENSP00000354778:S448C	ENSP00000354778:S448C	S	+	2	0	CNTNAP2	146460529	1.000000	0.71417	0.993000	0.49108	0.613000	0.37349	5.651000	0.67951	2.682000	0.91365	0.585000	0.79938	TCC	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146829596	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	G	G	146829596	C	G	146829596	3	3	26	1	0	0	0	0	1	0	0	0	3652	855	30	1	1373	1	CNTNAP2	7	146829596	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	55935075	146829596	12309067	70	3970										
CSMD1	64478	genome.wustl.edu	37	chr8	3059184	3059184	+	Frame_Shift_Del	DEL	C	C	-													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gtctggcctgtgcatgggttCcatcaaataattctgccaaa							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr8:3059184delC	ENST00000520002.1	-	33	5606	c.5051delG	c.(5050-5052)ggafs	p.G1684fs	CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G1684fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G1684fs|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G1683fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G1684fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G1683fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G1683fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1684	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCATGGGTTCCATCAAATAA	0.448																																																	0													59	65	63					8																	3059184		1880	4121	6001	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5051delG	8.37:g.3059184delC	ENSP00000430733:p.Gly1684fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G1684fs	ENST00000520002.1	37	c.5051		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3059184	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	3059184	C	-	3059184	7	5	26	1	0	1	0	1	0	0	0	0	3949	855	30	0	5802	0	CSMD1	8	3059184	Frame_Shift_Del	DEL	C	TCGA-C5-A1MN-01A-11D-A14W-08		3059184	143304838	71	3971										
SH2D4A	63898	genome.wustl.edu	37	chr8	19250842	19250842	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gccacaggaattctcacactCaagaaagcaaatgaacttct	6	11	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr8:19250842C>G	ENST00000265807.3	+	9	1473	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L	SH2D4A_ENST00000518040.1_Silent_p.L309L|SH2D4A_ENST00000519207.1_Silent_p.L354L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	354	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TTCTCACACTCAAGAAAGCAA	0.453																																																	0													110	110	110					8																	19250842		2203	4300	6503	SO:0001819	synonymous_variant	63898			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1062C>G	8.37:g.19250842C>G			B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.L354	ENST00000265807.3	37	c.1062	CCDS6009.1	8																																																																																			SH2D4A	-	pfam_SH2,smart_SH2,pfscan_SH2		0.453	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D4A	HGNC	protein_coding	OTTHUMT00000214094.1	C	NM_022071		19250842	1	no_errors	ENST00000265807	ensembl	human	known	70_37	silent	SNP	0.015	G	G	19250842	C	G	19250842	2	3	26	1	0	0	0	0	0	0	0	1	14265	813	29	1		1	SH2D4A	8	19250842	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	16191658	19250842	127113180	72	3972										
JAK2	3717	genome.wustl.edu	37	chr9	5080270	5080270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gggtaccacctgaatgcattGaaaatcctaaaaatttaaat	6	7	0	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:5080270G>A	ENST00000381652.3	+	17	2667	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	JAK2_ENST00000544510.1_Missense_Mutation_p.E576K|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.E725K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	725	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGAATGCATTGAAAATCCTAA	0.363		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													124	142	136					9																	5080270		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2173G>A	9.37:g.5080270G>A	ENSP00000371067:p.Glu725Lys		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E725K	ENST00000381652.3	37	c.2173	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081531	0.36758	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.82081	-1.57;-1.57;-1.57	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.313754	0.38381	N	0.001712	T	0.70996	0.3288	N	0.10629	0.01	0.44789	D	0.997793	B	0.06786	0.001	B	0.11329	0.006	T	0.63752	-0.6566	10	0.23891	T	0.37	-24.2636	20.1991	0.98252	0.0:0.0:1.0:0.0	.	725	O60674	JAK2_HUMAN	K	725;725;576	ENSP00000440387:E725K;ENSP00000371067:E725K;ENSP00000443103:E576K	ENSP00000371067:E725K	E	+	1	0	JAK2	5070270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.961000	0.63681	2.775000	0.95449	0.650000	0.86243	GAA	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5080270	1	no_errors	ENST00000381652	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5080270	G	A	5080270	3	1	26	1	0	0	0	0	1	0	0	0	7958	1291	45	1	2231	1	JAK2	9	5080270	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		5080270	136133161	73	3973										
TRPM6	140803	genome.wustl.edu	37	chr9	77353418	77353418	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ccagggtgttggtgggggtgAtttcatcaccattgttgttg	15	6	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:77353418A>T	ENST00000360774.1	-	36	5918	c.5681T>A	c.(5680-5682)aTc>aAc	p.I1894N	TRPM6_ENST00000361255.3_Missense_Mutation_p.I1889N|TRPM6_ENST00000449912.2_Missense_Mutation_p.I1889N|TRPM6_ENST00000451710.3_Missense_Mutation_p.I1898N|TRPM6_ENST00000376871.3_Missense_Mutation_p.I731N|TRPM6_ENST00000376872.3_Missense_Mutation_p.I849N|TRPM6_ENST00000376864.4_Missense_Mutation_p.I1898N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1894	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGTGGGGGTGATTTCATCACC	0.468																																																	0													162	145	151					9																	77353418		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5681T>A	9.37:g.77353418A>T	ENSP00000354006:p.Ile1894Asn		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.I1898N	ENST00000360774.1	37	c.5693	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122585	0.77436	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.092689	0.64402	D	0.000001	T	0.16257	0.0391	L	0.31845	0.965	0.51767	D	0.99993	B;P;D;D;D;D	0.76494	0.356;0.921;0.961;0.999;0.993;0.997	B;P;P;D;P;D	0.67900	0.038;0.583;0.707;0.954;0.881;0.922	T	0.00759	-1.1578	10	0.56958	D	0.05	.	16.3947	0.83586	1.0:0.0:0.0:0.0	.	441;727;845;1894;1889;1889	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	N	1894;1898;849;731;1889;1889;440;1898	ENSP00000354006:I1894N;ENSP00000407341:I1898N;ENSP00000366068:I849N;ENSP00000366067:I731N;ENSP00000396672:I1889N;ENSP00000354962:I1889N;ENSP00000366060:I1898N	ENSP00000354006:I1894N	I	-	2	0	TRPM6	76543238	1.000000	0.71417	0.910000	0.35882	0.868000	0.49771	7.074000	0.76791	2.272000	0.75746	0.459000	0.35465	ATC	TRPM6	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	A	NM_017662		77353418	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	missense	SNP	0.996	T	T	77353418	A	T	77353418	3	4	26	1	0	0	0	0	1	0	0	0	16621	333	12	5	403	5	TRPM6	9	77353418	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08	72273148	77353418	63860013	74	3974										
ZCCHC6	79670	genome.wustl.edu	37	chr9	88916323	88916323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tggtggcctgaggatcttctCcctccccaggtcagcagctg	12	14	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:88916323C>T	ENST00000375963.3	-	26	4460	c.4288G>A	c.(4288-4290)Gag>Aag	p.E1430K	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1194K|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E330K|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1392K|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E719K	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1430					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGGATCTTCTCCCTCCCCAGG	0.463																																																	0													137	118	124					9																	88916323		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4288G>A	9.37:g.88916323C>T	ENSP00000365130:p.Glu1430Lys		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E1430K	ENST00000375963.3	37	c.4288	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226160	0.79576	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.60040	0.22;0.65;0.55;0.51	5.38	5.38	0.77491	.	0.244523	0.40554	N	0.001074	T	0.63616	0.2526	L	0.29908	0.895	0.48975	D	0.999731	P;D;P	0.55385	0.72;0.971;0.651	B;P;B	0.58077	0.35;0.832;0.078	T	0.63550	-0.6612	10	0.49607	T	0.09	-33.4978	19.3333	0.94303	0.0:1.0:0.0:0.0	.	1392;1194;1430	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	K	719;1194;1392;330;1430	ENSP00000277141:E719K;ENSP00000365127:E1194K;ENSP00000365128:E1392K;ENSP00000365130:E1430K	ENSP00000277141:E719K	E	-	1	0	ZCCHC6	88106143	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	3.956000	0.56722	2.793000	0.96121	0.655000	0.94253	GAG	ZCCHC6	-	superfamily_Znf_CCHC		0.463	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	C	NM_024617		88916323	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88916323	C	T	88916323	3	4	26	1	0	0	0	0	1	0	0	0	17622	864	30	1	207	1	ZCCHC6	9	88916323	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	11562905	88916323	52297108	75	3975										
ANKS6	203286	genome.wustl.edu	37	chr9	101513319	101513319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gagcattcttacctcttgttCctcaaaaatgggctgatatt	7	9	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:101513319C>T	ENST00000353234.4	-	13	2433	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	ANKS6_ENST00000375019.2_Missense_Mutation_p.E495K|ANKS6_ENST00000375018.1_Missense_Mutation_p.E797K|ANKS6_ENST00000540940.1_Missense_Mutation_p.E601K			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	796	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACCTCTTGTTCCTCAAAAATG	0.303																																																	0													103	96	98					9																	101513319		1813	4084	5897	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2386G>A	9.37:g.101513319C>T	ENSP00000297837:p.Glu796Lys		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.E797K	ENST00000353234.4	37	c.2389	CCDS43856.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.171562|5.171562	0.94807|0.94807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56202|0.56202	0.1969|0.1969	N|N	0.25380|0.25380	0.74|0.74	0.54753|0.54753	D|D	0.99998|0.99998	D;D|.	0.65815|.	0.989;0.995|.	P;D|.	0.70227|.	0.844;0.968|.	T|T	0.48811|0.48811	-0.9002|-0.9002	10|5	0.87932|.	D|.	0|.	-30.4961|-30.4961	17.7923|17.7923	0.88558|0.88558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	797;796|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	K|E	495;797;796;601|265	ENSP00000364159:E495K;ENSP00000364158:E797K;ENSP00000297837:E796K;ENSP00000442189:E601K|.	ENSP00000297837:E796K|.	E|G	-|-	1|2	0|0	ANKS6|ANKS6	100553140|100553140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.081000|7.081000	0.76844|0.76844	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAA|GGA	ANKS6	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.303	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	C	NM_173551		101513319	-1	no_errors	ENST00000375018	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101513319	C	T	101513319	3	4	26	1	0	0	0	0	1	0	0	0	692	864	30	1	241	1	ANKS6	9	101513319	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	12596996	101513319	39700112	76	3976										
INVS	27130	genome.wustl.edu	37	chr9	103035180	103035180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	attatgctttgcttggtgagCgccatgaagtgatccagttc	11	8	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:103035180C>T	ENST00000262457.2	+	12	1791	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	INVS_ENST00000541287.1_Missense_Mutation_p.R440C|INVS_ENST00000262456.2_Missense_Mutation_p.R536C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	536					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GCTTGGTGAGCGCCATGAAGT	0.433																																																	0													194	185	188					9																	103035180		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1606C>T	9.37:g.103035180C>T	ENSP00000262457:p.Arg536Cys		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R536C	ENST00000262457.2	37	c.1606	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.306906	0.95629	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.66099	-0.19;-0.19;2.35	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.043343	0.85682	D	0.000000	T	0.69628	0.3132	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	P;P;P	0.59825	0.854;0.613;0.864	T	0.72204	-0.4361	10	0.87932	D	0	.	19.7704	0.96361	0.0:1.0:0.0:0.0	.	440;536;536	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	C	536;440;536	ENSP00000262457:R536C;ENSP00000444454:R440C;ENSP00000262456:R536C	ENSP00000262456:R536C	R	+	1	0	INVS	102075001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.676000	0.91093	0.561000	0.74099	CGC	INVS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.433	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	C	NM_014425		103035180	1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103035180	C	T	103035180	3	4	26	1	0	0	0	0	1	0	0	0	7807	768	27	2	1648	2	INVS	9	103035180	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1521861	103035180	38178251	77	3977										
LPAR1	1902	genome.wustl.edu	37	chr9	113704217	113704217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cccagcaaagaagtctgcagCagccagattagccattaggt	10	11	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:113704217C>A	ENST00000374431.3	-	4	660	c.277G>T	c.(277-279)Gct>Tct	p.A93S	LPAR1_ENST00000538760.1_Missense_Mutation_p.A94S|LPAR1_ENST00000358883.4_Missense_Mutation_p.A93S|LPAR1_ENST00000541779.1_Missense_Mutation_p.A94S|LPAR1_ENST00000374430.2_Missense_Mutation_p.A93S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	93					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AAGTCTGCAGCAGCCAGATTA	0.468																																					NSCLC(115;661 2323 9836 34256)												0													107	115	112					9																	113704217		2203	4300	6503	SO:0001583	missense	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.277G>T	9.37:g.113704217C>A	ENSP00000363553:p.Ala93Ser		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.A94S	ENST00000374431.3	37	c.280	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310073	0.81247	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.70208	-0.4935	10	0.49607	T	0.09	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	94;94;93	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	S	93;94;93;93;75;94;93	ENSP00000363553:A93S;ENSP00000445697:A94S;ENSP00000363552:A93S;ENSP00000351755:A93S;ENSP00000440201:A94S;ENSP00000401810:A93S	ENSP00000351755:A93S	A	-	1	0	LPAR1	112744038	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT	LPAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	C	NM_057159		113704217	-1	no_errors	ENST00000538760	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113704217	C	A	113704217	3	1	26	1	0	0	0	0	1	0	0	0	8927	710	25	4	825	4	LPAR1	9	113704217	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	10669037	113704217	27509214	78	3978										
PKN3	29941	genome.wustl.edu	37	chr9	131476384	131476384	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctgcagaggcaggaacgcatCttctctaaacgcagaggtgt	12	10	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:131476384C>G	ENST00000291906.4	+	10	1689	c.1296C>G	c.(1294-1296)atC>atG	p.I432M		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	432					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGGAACGCATCTTCTCTAAAC	0.632																																																	0													80	85	83					9																	131476384		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1296C>G	9.37:g.131476384C>G	ENSP00000291906:p.Ile432Met		Q9UM03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.I432M	ENST00000291906.4	37	c.1296	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279451	0.40294	.	.	ENSG00000160447	ENST00000291906	T	0.40756	1.02	5.16	1.65	0.23941	.	.	.	.	.	T	0.43344	0.1243	M	0.82823	2.61	0.41185	D	0.986266	P	0.43477	0.808	B	0.42851	0.4	T	0.40720	-0.9548	9	0.66056	D	0.02	.	3.0998	0.06322	0.1801:0.301:0.0:0.5189	.	432	Q6P5Z2	PKN3_HUMAN	M	432	ENSP00000291906:I432M	ENSP00000291906:I432M	I	+	3	3	PKN3	130516205	0.963000	0.33076	0.986000	0.45419	0.667000	0.39255	0.028000	0.13644	0.321000	0.23259	-0.379000	0.06801	ATC	PKN3	-	NULL		0.632	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	C	NM_013355		131476384	1	no_errors	ENST00000291906	ensembl	human	known	70_37	missense	SNP	0.997	G	G	131476384	C	G	131476384	3	3	26	1	0	0	0	0	1	0	0	0	12005	903	32	1	1334	1	PKN3	9	131476384	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	17772167	131476384	9737047	79	3979										
NOTCH1	4851	genome.wustl.edu	37	chr9	139399887	139399887	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agagactgcgtgcagttcttCcaggggtcattgaagttgag	14	7	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139399887C>G	ENST00000277541.6	-	25	4536	c.4461G>C	c.(4459-4461)tgG>tgC	p.W1487C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1487					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCAGTTCTTCCAGGGGTCAT	0.612			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													38	46	44					9																	139399887		2153	4252	6405	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4461G>C	9.37:g.139399887C>G	ENSP00000277541:p.Trp1487Cys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.W1487C	ENST00000277541.6	37	c.4461	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991357	0.74703	.	.	ENSG00000148400	ENST00000277541	D	0.84442	-1.85	4.18	4.18	0.49190	Notch domain (3);	0.000000	0.85682	U	0.000000	D	0.93086	0.7799	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94109	0.7369	10	0.54805	T	0.06	.	15.4752	0.75471	0.0:1.0:0.0:0.0	.	1487	P46531	NOTC1_HUMAN	C	1487	ENSP00000277541:W1487C	ENSP00000277541:W1487C	W	-	3	0	NOTCH1	138519708	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.626000	0.83164	1.863000	0.54032	0.579000	0.79373	TGG	NOTCH1	-	smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom		0.612	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139399887	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139399887	C	G	139399887	3	3	26	1	0	0	0	0	1	0	0	0	10571	856	30	1	3246	1	NOTCH1	9	139399887	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	7923503	139399887	1813544	80	3980			1	21		4	3	1970	N	C	5.465919e-05
NOTCH1	4851	genome.wustl.edu	37	chr9	139400124	139400124	+	Missense_Mutation	SNP	C	C	A													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggcaacggtagaaggggctCtcggatgtgggctcacaggt							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139400124C>A	ENST00000277541.6	-	25	4299	c.4224G>T	c.(4222-4224)gaG>gaT	p.E1408D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1408	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGAAGGGGCTCTCGGATGTGG	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													19	24	22					9																	139400124		1912	4106	6018	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4224G>T	9.37:g.139400124C>A	ENSP00000277541:p.Glu1408Asp		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1408D	ENST00000277541.6	37	c.4224	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165149	0.21538	.	.	ENSG00000148400	ENST00000277541	T	0.54479	0.57	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.173587	0.49305	U	0.000144	T	0.31949	0.0813	N	0.11000	0.08	0.58432	D	0.999991	B	0.11235	0.004	B	0.17979	0.02	T	0.12192	-1.0557	10	0.16420	T	0.52	.	12.9334	0.58301	0.0:0.8226:0.1774:0.0	.	1408	P46531	NOTC1_HUMAN	D	1408	ENSP00000277541:E1408D	ENSP00000277541:E1408D	E	-	3	2	NOTCH1	138519945	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	1.424000	0.34848	2.062000	0.61559	0.643000	0.83706	GAG	NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139400124	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139400124	C	A	139400124	3	1	26	1	0	0	0	0	1	0	0	0	10571	912	32	3	3483	3	NOTCH1	9	139400124	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	237	139400124	1813307	81	3981	19	2	1	21		4	3	1970	N	C	5.465919e-05
NOTCH1	4851	genome.wustl.edu	37	chr9	139400126	139400126	+	Missense_Mutation	SNP	C	C	T													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gcaacggtagaaggggctctCggatgtgggctcacaggtcc					rs587778569		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139400126C>T	ENST00000277541.6	-	25	4297	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1408	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGGGGCTCTCGGATGTGGGC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													18	24	22					9																	139400126		1911	4106	6017	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4222G>A	9.37:g.139400126C>T	ENSP00000277541:p.Glu1408Lys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1408K	ENST00000277541.6	37	c.4222	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842603	0.51057	.	.	ENSG00000148400	ENST00000277541	T	0.55052	0.54	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.173587	0.49305	U	0.000144	T	0.49218	0.1544	L	0.45228	1.405	0.80722	D	1	P	0.51791	0.948	P	0.46320	0.512	T	0.42207	-0.9465	10	0.17832	T	0.49	.	16.289	0.82738	0.0:1.0:0.0:0.0	.	1408	P46531	NOTC1_HUMAN	K	1408	ENSP00000277541:E1408K	ENSP00000277541:E1408K	E	-	1	0	NOTCH1	138519947	1.000000	0.71417	0.945000	0.38365	0.057000	0.15508	7.133000	0.77259	2.062000	0.61559	0.643000	0.83706	GAG	NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139400126	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139400126	C	T	139400126	3	4	26	1	0	0	0	0	1	0	0	0	10571	893	31	1	3485	1	NOTCH1	9	139400126	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	2	139400126	1813305	82	3982	19	2	1	21		4	3	1970	N	C	5.465919e-05
NOTCH1	4851	genome.wustl.edu	37	chr9	139401856	139401856	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gaggcactcgtcgatctcctCagagcagttcaccccgtggt	11	14	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139401856C>G	ENST00000277541.6	-	22	3619	c.3544G>C	c.(3544-3546)Gag>Cag	p.E1182Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1182					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGATCTCCTCAGAGCAGTTC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													35	42	40					9																	139401856		2050	4179	6229	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3544G>C	9.37:g.139401856C>G	ENSP00000277541:p.Glu1182Gln		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1182Q	ENST00000277541.6	37	c.3544	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928283	0.34002	.	.	ENSG00000148400	ENST00000277541	D	0.89343	-2.5	5.36	5.36	0.76844	.	0.168448	0.51477	D	0.000094	D	0.83004	0.5160	L	0.31804	0.96	0.47183	D	0.999342	B	0.09022	0.002	B	0.13407	0.009	T	0.77560	-0.2542	10	0.13470	T	0.59	.	18.057	0.89366	0.0:1.0:0.0:0.0	.	1182	P46531	NOTC1_HUMAN	Q	1182	ENSP00000277541:E1182Q	ENSP00000277541:E1182Q	E	-	1	0	NOTCH1	138521677	0.890000	0.30428	1.000000	0.80357	0.475000	0.33008	1.794000	0.38774	2.498000	0.84270	0.609000	0.83330	GAG	NOTCH1	-	pirsf_Notch		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139401856	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.998	G	G	139401856	C	G	139401856	3	3	26	1	0	0	0	0	1	0	0	0	10571	835	29	1	4175	1	NOTCH1	9	139401856	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1730	139401856	1811575	83	3983			1	21		4	3	1970	N	C	5.465919e-05
SGPL1	8879	genome.wustl.edu	37	chr10	72637064	72637064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cactgtcacccagggcagccAgatgaatggttctccaaaac	9	13	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr10:72637064A>G	ENST00000373202.3	+	15	1879	c.1679A>G	c.(1678-1680)cAg>cGg	p.Q560R		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	560					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						CAGGGCAGCCAGATGAATGGT	0.517																																					Colon(151;1054 2458 6676 40971)												0													112	99	104					10																	72637064		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1679A>G	10.37:g.72637064A>G	ENSP00000362298:p.Gln560Arg		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.Q560R	ENST00000373202.3	37	c.1679	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942273	0.53079	.	.	ENSG00000166224	ENST00000373202	T	0.42900	0.96	5.73	4.55	0.56014	.	0.275476	0.44483	D	0.000452	T	0.33352	0.0860	L	0.47716	1.5	0.35143	D	0.769003	B	0.32731	0.382	B	0.24006	0.05	T	0.48043	-0.9069	10	0.35671	T	0.21	-19.9919	13.0241	0.58804	0.8658:0.1342:0.0:0.0	.	560	O95470	SGPL1_HUMAN	R	560	ENSP00000362298:Q560R	ENSP00000362298:Q560R	Q	+	2	0	SGPL1	72307070	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.573000	0.67417	2.190000	0.69967	0.528000	0.53228	CAG	SGPL1	-	NULL		0.517	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	A	NM_003901		72637064	1	no_errors	ENST00000373202	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72637064	A	G	72637064	3	3	26	1	0	0	0	0	1	0	0	0	14248	188	7	5	1733	5	SGPL1	10	72637064	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08		72637064	62897683	84	3984										
ZNF518A	9849	genome.wustl.edu	37	chr10	97919065	97919065	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gtgtttccgctgtcaaaaccGagggtgccccagctcgtgga	13	12	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr10:97919065G>A	ENST00000534948.1	+	0	3843							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTCAAAACCGAGGGTGCCCC	0.423																																																	0													61	60	60					10																	97919065		1847	4093	5940			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919065G>A			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.423	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		G	NM_014803		97919065	1	no_errors	ENST00000316045	ensembl	human	known	70_37	rna	SNP	0.998	A	A	97919065	G	A	97919065	1	1	26	0	1	0	0	0	0	0	0	0	17992	1059	37	1		1	ZNF518A	10	97919065	RNA	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	25282001	97919065	37615682	85	3985										
ATRNL1	26033	genome.wustl.edu	37	chr10	117607476	117607476	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttgtctaccacgaggatcatCaggtgcccctccccctgggc	10	16	3	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr10:117607476C>T	ENST00000355044.3	+	28	4118	c.3992C>T	c.(3991-3993)tCa>tTa	p.S1331L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.S382L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.S124L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1331					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGAGGATCATCAGGTGCCCCT	0.468																																																	0													120	107	111					10																	117607476		2203	4300	6503	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3992C>T	10.37:g.117607476C>T	ENSP00000347152:p.Ser1331Leu		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.S1331L	ENST00000355044.3	37	c.3992	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221488	0.79464	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.51071	0.72;0.72;0.72	5.57	5.57	0.84162	.	0.143965	0.48767	D	0.000167	T	0.58864	0.2152	L	0.33485	1.01	0.50039	D	0.999843	D;D	0.58268	0.982;0.981	P;D	0.69824	0.676;0.966	T	0.51116	-0.8746	10	0.25751	T	0.34	-10.9305	19.5424	0.95280	0.0:1.0:0.0:0.0	.	382;1331	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1331;382;124	ENSP00000347152:S1331L;ENSP00000409624:S382L;ENSP00000307660:S124L	ENSP00000307660:S124L	S	+	2	0	ATRNL1	117597466	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.798000	0.75155	2.622000	0.88805	0.585000	0.79938	TCA	ATRNL1	-	NULL		0.468	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117607476	1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117607476	C	T	117607476	3	4	26	1	0	0	0	0	1	0	0	0	1208	838	29	1	4102	1	ATRNL1	10	117607476	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	19688411	117607476	17927271	86	3986										
MUC6	4588	genome.wustl.edu	37	chr11	1018394	1018394	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttggaggcagatgtggccatCtgtgcgtgggtaggggtgat	19	5	1	2	rs111444881		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:1018394C>G	ENST00000421673.2	-	31	4457	c.4407G>C	c.(4405-4407)caG>caC	p.Q1469H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1469	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTGGCCATCTGTGCGTGGG	0.567																																																	0													271	265	267					11																	1018394		2190	4284	6474	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4407G>C	11.37:g.1018394C>G	ENSP00000406861:p.Gln1469His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q1469H	ENST00000421673.2	37	c.4407	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.563913	0.03939	.	.	ENSG00000184956	ENST00000421673	T	0.14516	2.5	2.69	-5.37	0.02681	.	.	.	.	.	T	0.04452	0.0122	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	9	0.41790	T	0.15	.	2.341	0.04260	0.1151:0.3165:0.345:0.2235	.	1469	Q6W4X9	MUC6_HUMAN	H	1469	ENSP00000406861:Q1469H	ENSP00000406861:Q1469H	Q	-	3	2	MUC6	1008394	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.748000	0.04818	-1.438000	0.01965	-0.657000	0.03884	CAG	MUC6	-	NULL		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	C	XM_290540		1018394	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.000	G	G	1018394	C	G	1018394	3	3	26	1	0	0	0	0	1	0	0	0	10003	912	32	1	2924	1	MUC6	11	1018394	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		1018394	133988122	87	3987										
ZNF143	7702	genome.wustl.edu	37	chr11	9494253	9494253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acttagaaaatatggaaggcGtaagcttgcaagcagtaaca	10	6	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:9494253G>A	ENST00000396602.2	+	3	261	c.142G>A	c.(142-144)Gta>Ata	p.V48I	ZNF143_ENST00000396597.3_Intron|ZNF143_ENST00000299606.2_Missense_Mutation_p.V48I|ZNF143_ENST00000396604.1_Missense_Mutation_p.V48I|ZNF143_ENST00000530463.1_Missense_Mutation_p.V48I	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	48					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TATGGAAGGCGTAAGCTTGCA	0.343																																																	0													148	142	144					11																	9494253		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.142G>A	11.37:g.9494253G>A	ENSP00000379847:p.Val48Ile		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V48I	ENST00000396602.2	37	c.142	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533124	0.64972	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000532577;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	T;T;T;T;T;T;T;T;T;T	0.49720	0.79;2.87;2.88;2.87;0.78;0.83;0.77;2.79;0.8;0.79	5.23	5.23	0.72850	.	0.310876	0.27366	N	0.019699	T	0.40570	0.1122	L	0.47716	1.5	0.53688	D	0.999979	B;B	0.23806	0.091;0.091	B;B	0.17098	0.017;0.017	T	0.19844	-1.0293	10	0.37606	T	0.19	.	12.3287	0.55026	0.0766:0.0:0.9234:0.0	.	48;48	E7ER34;P52747	.;ZN143_HUMAN	I	48	ENSP00000434638:V48I;ENSP00000379849:V48I;ENSP00000379847:V48I;ENSP00000432154:V48I;ENSP00000433221:V48I;ENSP00000409432:V48I;ENSP00000435881:V48I;ENSP00000299606:V48I;ENSP00000433743:V48I;ENSP00000388628:V48I	ENSP00000299606:V48I	V	+	1	0	ZNF143	9450829	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.329000	0.79170	2.722000	0.93159	0.650000	0.86243	GTA	ZNF143	-	NULL		0.343	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	G	NM_003442		9494253	1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9494253	G	A	9494253	3	1	26	1	0	0	0	0	1	0	0	0	17762	1145	40	2	148	2	ZNF143	11	9494253	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	8475859	9494253	125512263	88	3988										
MRGPRX1	259249	genome.wustl.edu	37	chr11	18956110	18956110	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ataaggcggccgctgaggaaGaggaagtctgctgcggccaa	16	9	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:18956110G>A	ENST00000302797.3	-	1	446	c.222C>T	c.(220-222)ctC>ctT	p.L74L	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	74					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGCTGAGGAAGAGGAAGTCTG	0.517																																																	0													131	131	131					11																	18956110		2194	4285	6479	SO:0001819	synonymous_variant	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.222C>T	11.37:g.18956110G>A			Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L74	ENST00000302797.3	37	c.222	CCDS7846.1	11																																																																																			MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	G	NM_147199		18956110	-1	no_errors	ENST00000302797	ensembl	human	known	70_37	silent	SNP	0.974	A	A	18956110	G	A	18956110	2	1	26	1	0	0	0	0	0	0	0	1	9789	929	33	1		1	MRGPRX1	11	18956110	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	9461857	18956110	116050406	89	3989										
GLYAT	10249	genome.wustl.edu	37	chr11	58477548	58477548	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	atgcagcgctcaatgaatctCtggctcctctcattaccacc	6	15	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:58477548C>T	ENST00000344743.3	-	6	723	c.582G>A	c.(580-582)caG>caA	p.Q194Q	GLYAT_ENST00000529732.1_Silent_p.Q194Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	194					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CAATGAATCTCTGGCTCCTCT	0.498																																																	0													75	76	76					11																	58477548		2201	4295	6496	SO:0001819	synonymous_variant	10249			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.582G>A	11.37:g.58477548C>T			O14833|Q96QK7	Silent	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.Q194	ENST00000344743.3	37	c.582	CCDS7970.1	11																																																																																			GLYAT	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.498	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	HGNC	protein_coding	OTTHUMT00000394593.1	C			58477548	-1	no_errors	ENST00000344743	ensembl	human	known	70_37	silent	SNP	0.805	T	T	58477548	C	T	58477548	2	4	26	1	0	0	0	0	0	0	0	1	6498	912	32	1		1	GLYAT	11	58477548	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	39521438	58477548	76528968	90	3990										
DDB1	1642	genome.wustl.edu	37	chr11	61084025	61084025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctcacgattagggtcagaccGcagtggccataatcctggaa	11	11	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:61084025G>A	ENST00000301764.7	-	11	1637	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	414	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTCAGACCGCAGTGGCCAT	0.532								Nucleotide excision repair (NER)																																									0													155	137	143					11																	61084025		2203	4299	6502	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1240C>T	11.37:g.61084025G>A	ENSP00000301764:p.Arg414Trp		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R414W	ENST00000301764.7	37	c.1240	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051745	0.75960	.	.	ENSG00000167986	ENST00000301764;ENST00000535967;ENST00000539739;ENST00000535174	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.23	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.75252	-0.3383	10	0.87932	D	0	-17.8306	11.6339	0.51192	0.0:0.0:0.3901:0.6099	.	414;414	B7Z2A1;Q16531	.;DDB1_HUMAN	W	414;65;133;197	ENSP00000301764:R414W;ENSP00000437713:R65W;ENSP00000445563:R133W;ENSP00000446044:R197W	ENSP00000301764:R414W	R	-	1	2	DDB1	60840601	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.019000	0.57181	1.196000	0.43129	0.643000	0.83706	CGG	DDB1	-	NULL		0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	G	NM_001923		61084025	-1	no_errors	ENST00000301764	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61084025	G	A	61084025	3	1	26	1	0	0	0	0	1	0	0	0	4328	1086	38	2	2250	2	DDB1	11	61084025	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	2606477	61084025	73922491	91	3991										
GANAB	23193	genome.wustl.edu	37	chr11	62397703	62397703	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agctgaacatgttagcccacCaggccctcatcgtgggatta	10	12	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:62397703C>T	ENST00000356638.3	-	13	1575	c.1559G>A	c.(1558-1560)tGg>tAg	p.W520*	GANAB_ENST00000346178.4_Nonsense_Mutation_p.W542*|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Nonsense_Mutation_p.W423*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.W428*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	520					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTTAGCCCACCAGGCCCTCAT	0.542																																					Melanoma(23;1005 1074 15747 18937)												0													77	69	72					11																	62397703		2202	4299	6501	SO:0001587	stop_gained	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1559G>A	11.37:g.62397703C>T	ENSP00000349053:p.Trp520*		A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.W542*	ENST00000356638.3	37	c.1625	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.905099	0.97087	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	5.2	5.2	0.72013	.	0.062004	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7214	16.2695	0.82607	0.0:1.0:0.0:0.0	.	.	.	.	X	542;520;428;423	.	ENSP00000340466:W542X	W	-	2	0	GANAB	62154279	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.155000	0.64900	2.706000	0.92434	0.561000	0.74099	TGG	GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	C	NM_198334		62397703	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	62397703	C	T	62397703	4	4	26	1	0	0	0	0	0	1	0	0	6252	595	21	4	1323	4	GANAB	11	62397703	Nonsense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1313678	62397703	72608813	92	3992										
KDM2A	22992	genome.wustl.edu	37	chr11	66975079	66975079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	actatgagaccccagaggagGagcgagagaaactctataat	11	8	1	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:66975079G>A	ENST00000529006.2	+	6	852	c.406G>A	c.(406-408)Gag>Aag	p.E136K	KDM2A_ENST00000398645.2_Missense_Mutation_p.E136K|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	136					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCCAGAGGAGGAGCGAGAGAA	0.502																																																	0													64	69	68					11																	66975079		2018	4179	6197	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.406G>A	11.37:g.66975079G>A	ENSP00000432786:p.Glu136Lys		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E136K	ENST00000529006.2	37	c.406	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282667	0.80692	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.71341	-0.56;-0.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	N	0.17723	0.515	0.80722	D	1	P	0.41929	0.765	B	0.35312	0.2	T	0.54490	-0.8286	10	0.13853	T	0.58	-9.376	18.0888	0.89468	0.0:0.0:1.0:0.0	.	136	Q9Y2K7	KDM2A_HUMAN	K	136	ENSP00000381640:E136K;ENSP00000432786:E136K	ENSP00000381640:E136K	E	+	1	0	KDM2A	66731655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.538000	0.67193	2.503000	0.84419	0.591000	0.81541	GAG	KDM2A	-	NULL		0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66975079	1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66975079	G	A	66975079	3	1	26	1	0	0	0	0	1	0	0	0	8144	1175	41	1	424	1	KDM2A	11	66975079	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	4577376	66975079	68031437	93	3993										
ODZ4	26011	genome.wustl.edu	37	chr11	78381424	78381424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	catcctcagtgaagtcctgtAtgactgaggcattgccctca	9	12	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:78381424A>G	ENST00000278550.7	-	32	6428	c.5966T>C	c.(5965-5967)aTa>aCa	p.I1989T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1989					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GAAGTCCTGTATGACTGAGGC	0.557																																																	0													60	60	60					11																	78381424		2007	4152	6159	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5966T>C	11.37:g.78381424A>G	ENSP00000278550:p.Ile1989Thr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.I1989T	ENST00000278550.7	37	c.5966	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009512	0.35415	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89939	-2.59;0.91	4.93	4.93	0.64822	.	0.056792	0.64402	D	0.000003	D	0.84288	0.5439	L	0.43152	1.355	0.46901	D	0.999248	B	0.26672	0.156	B	0.23852	0.049	T	0.80815	-0.1214	9	.	.	.	.	15.0385	0.71767	1.0:0.0:0.0:0.0	.	1989	Q6N022	TEN4_HUMAN	T	1989;453	ENSP00000278550:I1989T;ENSP00000431711:I453T	.	I	-	2	0	ODZ4	78059072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.194000	0.70268	0.533000	0.62120	ATA	TENM4	-	NULL		0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	A			78381424	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78381424	A	G	78381424	3	3	26	1	0	0	0	0	1	0	0	0	10861	449	16	5	2355	5	ODZ4	11	78381424	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08	11406345	78381424	56625092	94	3994										
MMP8	4317	genome.wustl.edu	37	chr11	102589172	102589172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggcctgaatgccatcgatgtCatcttgagggagtgagtagt	14	7	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:102589172C>T	ENST00000236826.3	-	5	855	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	253					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CCATCGATGTCATCTTGAGGG	0.493																																																	0													117	96	103					11																	102589172		2203	4299	6502	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.757G>A	11.37:g.102589172C>T	ENSP00000236826:p.Asp253Asn		Q45F99	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D253N	ENST00000236826.3	37	c.757	CCDS8320.1	11	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934845	0.92458	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.61392	0.11	5.45	5.45	0.79879	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000006	D	0.85991	0.5826	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90870	0.4745	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	253;188;253	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	N	253;230;188	ENSP00000236826:D253N	ENSP00000236826:D253N	D	-	1	0	MMP8	102094382	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.338000	0.79269	2.716000	0.92895	0.655000	0.94253	GAC	MMP8	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.493	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	C	NM_002424		102589172	-1	no_errors	ENST00000236826	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102589172	C	T	102589172	3	4	26	1	0	0	0	0	1	0	0	0	9691	826	29	1	670	1	MMP8	11	102589172	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	24207748	102589172	32417344	95	3995										
KBTBD3	143879	genome.wustl.edu	37	chr11	105923634	105923634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttattaaactgaatcacctgGcagtaaaattctgttaaggc	7	7	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:105923634G>A	ENST00000526793.1	-	3	1941	c.1782C>T	c.(1780-1782)tgC>tgT	p.C594C	KBTBD3_ENST00000531837.1_Silent_p.C594C|KBTBD3_ENST00000534815.1_Silent_p.C515C	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	590										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GAATCACCTGGCAGTAAAATT	0.388																																																	0													105	108	107					11																	105923634		2201	4298	6499	SO:0001819	synonymous_variant	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1782C>T	11.37:g.105923634G>A			Q6N066|Q86X38|Q96NK5	Silent	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C594	ENST00000526793.1	37	c.1782	CCDS8334.1	11																																																																																			KBTBD3	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.388	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388705.2	G	NM_152433		105923634	-1	no_errors	ENST00000526793	ensembl	human	known	70_37	silent	SNP	1.000	A	A	105923634	G	A	105923634	2	1	26	1	0	0	0	0	0	0	0	1	8014	1195	42	4		4	KBTBD3	11	105923634	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	3334462	105923634	29082882	96	3996										
PCSK7	9159	genome.wustl.edu	37	chr11	117079626	117079626	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tacatacgagtccatgctgcGgggggcgccgatgagggaca	16	10	0	1	rs202038275		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:117079626G>C	ENST00000320934.3	-	13	2308	c.1678C>G	c.(1678-1680)Cgc>Ggc	p.R560G	PCSK7_ENST00000540028.1_Missense_Mutation_p.R201G|PCSK7_ENST00000529458.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	560					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCATGCTGCGGGGGGCGCCG	0.597			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													40	43	42					11																	117079626		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1678C>G	11.37:g.117079626G>C	ENSP00000325917:p.Arg560Gly		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R560G	ENST00000320934.3	37	c.1678	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082462	0.36758	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.71222	-0.55;-0.55	4.68	3.77	0.43336	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.85099	2.735	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.83562	0.0107	10	0.87932	D	0	-26.4093	7.8865	0.29653	0.0864:0.0:0.7545:0.1591	.	560	Q16549	PCSK7_HUMAN	G	560;201;560	ENSP00000325917:R560G;ENSP00000441944:R201G	ENSP00000325917:R560G	R	-	1	0	PCSK7	116584836	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.527000	0.35975	1.207000	0.43291	-0.362000	0.07510	CGC	PCSK7	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like		0.597	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	G	NM_004716		117079626	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117079626	G	C	117079626	3	2	26	1	0	0	0	0	1	0	0	0	11629	1116	39	2	699	2	PCSK7	11	117079626	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	11155992	117079626	17926890	97	3997										
SLC37A2	219855	genome.wustl.edu	37	chr11	124955860	124955860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgctccacagctcctttgccGgttagtatacaaagagatct	8	11	1	1	rs201149895		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:124955860G>A	ENST00000403796.2	+	17	1737	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	SLC37A2_ENST00000407458.1_Missense_Mutation_p.R479Q|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.R479Q	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	479					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTCCTTTGCCGGTTAGTATAC	0.592																																					Melanoma(11;373 620 21213 26083 47768)												0													114	93	100					11																	124955860		2201	4299	6500	SO:0001583	missense	219855			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1436G>A	11.37:g.124955860G>A	ENSP00000384407:p.Arg479Gln		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R479Q	ENST00000403796.2	37	c.1436	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692253	0.88735	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.59638	0.25;0.25;0.25	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.72982	0.952;0.979;0.928	T	0.74057	-0.3787	10	0.40728	T	0.16	-28.7677	15.634	0.76937	0.0:0.0:1.0:0.0	.	104;479;479	B7Z480;Q8TED4-2;Q8TED4	.;.;SPX2_HUMAN	Q	479	ENSP00000384407:R479Q;ENSP00000385126:R479Q;ENSP00000311833:R479Q	ENSP00000311833:R479Q	R	+	2	0	SLC37A2	124461070	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	5.931000	0.70113	2.606000	0.88127	0.655000	0.94253	CGG	SLC37A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.592	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	G	XM_166184		124955860	1	no_errors	ENST00000308074	ensembl	human	known	70_37	missense	SNP	0.996	A	A	124955860	G	A	124955860	3	1	26	1	0	0	0	0	1	0	0	0	14628	1116	39	2	1502	2	SLC37A2	11	124955860	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	7876234	124955860	10050656	98	3998										
PDE3A	5139	genome.wustl.edu	37	chr12	20709614	20709614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctcatggggcattcagaatgGgaccacaaacgagggccaag	13	10	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:20709614G>T	ENST00000359062.3	+	2	1021	c.981G>T	c.(979-981)tgG>tgT	p.W327C		NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	327					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATTCAGAATGGGACCACAAAC	0.343																																																	0													89	87	88					12																	20709614		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.981G>T	12.37:g.20709614G>T	ENSP00000351957:p.Trp327Cys		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.W327C	ENST00000359062.3	37	c.981	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265502	0.59431	.	.	ENSG00000172572	ENST00000359062	D	0.84223	-1.82	5.0	5.0	0.66597	.	1.652190	0.02318	N	0.072729	D	0.92648	0.7664	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81632	-0.0845	10	0.87932	D	0	.	14.0489	0.64722	0.0:0.0:1.0:0.0	.	327	Q14432	PDE3A_HUMAN	C	327	ENSP00000351957:W327C	ENSP00000351957:W327C	W	+	3	0	PDE3A	20600881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.967000	0.63722	2.772000	0.95346	0.580000	0.79431	TGG	PDE3A	-	NULL		0.343	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	G			20709614	1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20709614	G	T	20709614	3	4	26	1	0	0	0	0	1	0	0	0	11661	1241	43	4	987	4	PDE3A	12	20709614	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		20709614	113142281	99	3999										
DENND5B	160518	genome.wustl.edu	37	chr12	31540647	31540647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	catgcggtctcgcaggagagCgctctcttcatacattcgag	11	12	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:31540647C>T	ENST00000389082.5	-	21	3979	c.3715G>A	c.(3715-3717)Gct>Act	p.A1239T	DENND5B_ENST00000306833.6_Missense_Mutation_p.A1274T|DENND5B_ENST00000536562.1_Missense_Mutation_p.A1274T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1239	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGCAGGAGAGCGCTCTCTTCA	0.493																																																	0													99	95	96					12																	31540647		2030	4191	6221	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3715G>A	12.37:g.31540647C>T	ENSP00000373734:p.Ala1239Thr		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.A1274T	ENST00000389082.5	37	c.3820	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.688898	0.96784	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.30448	1.53;1.53;1.53	5.2	5.2	0.72013	RUN (3);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61592	0.883;0.891	T	0.55515	-0.8129	10	0.87932	D	0	-2.5412	18.9092	0.92475	0.0:1.0:0.0:0.0	.	1239;1274	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	T	1239;1274;1274	ENSP00000373734:A1239T;ENSP00000306482:A1274T;ENSP00000444889:A1274T	ENSP00000306482:A1274T	A	-	1	0	DENND5B	31431914	1.000000	0.71417	0.931000	0.37212	0.993000	0.82548	7.416000	0.80143	2.714000	0.92807	0.591000	0.81541	GCT	DENND5B	-	pfam_Run,smart_Run,pfscan_Run		0.493	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31540647	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31540647	C	T	31540647	3	4	26	1	0	0	0	0	1	0	0	0	4447	768	27	2	113	2	DENND5B	12	31540647	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	10831033	31540647	102311248	100	4000										
MLL2	8085	genome.wustl.edu	37	chr12	49438040	49438040	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctgtgcagcaggccccttttTcgtgcgtgtgtgggatttcc	13	11	0	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:49438040T>A	ENST00000301067.7	-	21	5130	c.5131A>T	c.(5131-5133)Aaa>Taa	p.K1711*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1711					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCCCCTTTTTCGTGCGTGTG	0.622											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	56	54					12																	49438040		2139	4248	6387	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5131A>T	12.37:g.49438040T>A	ENSP00000301067:p.Lys1711*	962	O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K1711*	ENST00000301067.7	37	c.5131	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	45	11.401675	0.99556	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.82	4.82	0.62117	.	0.000000	0.37348	N	0.002131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5015	0.61459	0.0:0.0:0.0:1.0	.	.	.	.	X	1711	.	ENSP00000301067:K1711X	K	-	1	0	MLL2	47724307	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.794000	0.69067	2.022000	0.59522	0.460000	0.39030	AAA	MLL2	-	NULL		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	T			49438040	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49438040	T	A	49438040	4	1	26	1	0	0	0	0	0	1	0	0	9644	1792	62	5	11618	5	MLL2	12	49438040	Nonsense_Mutation	SNP	T	TCGA-C5-A1MN-01A-11D-A14W-08	17897393	49438040	84413855	101	4001										
SLC25A3	5250	genome.wustl.edu	37	chr12	98995213	98995213	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	actgcactacagtggtttatCtatgactccgtgaaggtcta	9	9	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:98995213C>G	ENST00000228318.3	+	8	1116	c.996C>G	c.(994-996)atC>atG	p.I332M	SLC25A3_ENST00000548847.1_Missense_Mutation_p.I294M|SLC25A3_ENST00000549338.1_Missense_Mutation_p.I331M|SLC25A3_ENST00000551917.1_Missense_Mutation_p.I332M|SLC25A3_ENST00000188376.5_Missense_Mutation_p.I331M|SLC25A3_ENST00000401722.3_Missense_Mutation_p.I331M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.I331M|SNORA53_ENST00000391141.1_RNA	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	332					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AGTGGTTTATCTATGACTCCG	0.458																																																	0													163	155	158					12																	98995213		2203	4300	6503	SO:0001583	missense	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.996C>G	12.37:g.98995213C>G	ENSP00000228318:p.Ile332Met		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.I332M	ENST00000228318.3	37	c.996	CCDS9066.1	12	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675729	0.88445	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.991;0.999	D;D;D;D	0.77557	0.99;0.989;0.925;0.981	T	0.68565	-0.5375	10	0.72032	D	0.01	-26.7087	19.7153	0.96115	0.0:1.0:0.0:0.0	.	294;331;332;331	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	M	331;331;332;332;331;331;294	ENSP00000383898:I331M;ENSP00000188376:I331M;ENSP00000228318:I332M;ENSP00000447310:I332M;ENSP00000448708:I331M;ENSP00000447740:I331M;ENSP00000449166:I294M	ENSP00000188376:I331M	I	+	3	3	SLC25A3	97519344	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.554000	0.67294	2.731000	0.93534	0.655000	0.94253	ATC	SLC25A3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.458	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	HGNC	protein_coding	OTTHUMT00000407989.1	C	NM_005888		98995213	1	no_errors	ENST00000228318	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98995213	C	G	98995213	3	3	26	1	0	0	0	0	1	0	0	0	14523	903	32	1	1148	1	SLC25A3	12	98995213	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	49557173	98995213	34856682	102	4002										
SLC25A3	5250	genome.wustl.edu	37	chr12	98995275	98995275	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tccacccgagatgccagagtCtctgaagaagaagcttgggt	12	10	1	5			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:98995275C>G	ENST00000228318.3	+	8	1178	c.1058C>G	c.(1057-1059)tCt>tGt	p.S353C	SLC25A3_ENST00000548847.1_Missense_Mutation_p.S315C|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S352C|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S353C|SLC25A3_ENST00000188376.5_Missense_Mutation_p.S352C|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S352C|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S352C|SNORA53_ENST00000391141.1_RNA	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	353					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ATGCCAGAGTCTCTGAAGAAG	0.448																																																	0													94	90	92					12																	98995275		2203	4300	6503	SO:0001583	missense	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1058C>G	12.37:g.98995275C>G	ENSP00000228318:p.Ser353Cys		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S353C	ENST00000228318.3	37	c.1058	CCDS9066.1	12	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868716	0.91587	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.81914	0.995;0.981;0.99;0.995	T	0.73795	-0.3870	10	0.87932	D	0	-30.7206	19.7153	0.96115	0.0:1.0:0.0:0.0	.	315;352;353;352	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	C	352;352;353;353;352;352;315	ENSP00000383898:S352C;ENSP00000188376:S352C;ENSP00000228318:S353C;ENSP00000447310:S353C;ENSP00000448708:S352C;ENSP00000447740:S352C;ENSP00000449166:S315C	ENSP00000188376:S352C	S	+	2	0	SLC25A3	97519406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.251000	0.78297	2.731000	0.93534	0.655000	0.94253	TCT	SLC25A3	-	NULL		0.448	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	HGNC	protein_coding	OTTHUMT00000407989.1	C	NM_005888		98995275	1	no_errors	ENST00000228318	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98995275	C	G	98995275	3	3	26	1	0	0	0	0	1	0	0	0	14523	913	32	1	1210	1	SLC25A3	12	98995275	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	62	98995275	34856620	103	4003										
CPB2	1361	genome.wustl.edu	37	chr13	46638848	46638848	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgcaatgattgttcgcatagAaagaacggttctttctccac	8	9	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr13:46638848A>C	ENST00000181383.4	-	8	747	c.731T>G	c.(730-732)tTc>tGc	p.F244C	CPB2_ENST00000439329.3_Missense_Mutation_p.F207C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	244					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GTTCGCATAGAAAGAACGGTT	0.413																																																	0													168	141	150					13																	46638848		2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.731T>G	13.37:g.46638848A>C	ENSP00000181383:p.Phe244Cys		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.F244C	ENST00000181383.4	37	c.731	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	A	7.967	0.748159	0.15710	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.10382	2.88;2.88	5.66	-10.9	0.00192	Peptidase M14, carboxypeptidase A (2);	1.815870	0.01862	N	0.036641	T	0.09642	0.0237	L	0.43152	1.355	0.09310	N	1	B;P	0.35328	0.297;0.495	B;B	0.43194	0.333;0.411	T	0.38001	-0.9681	10	0.38643	T	0.18	.	2.3272	0.04226	0.2281:0.0906:0.3524:0.329	.	207;244	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	C	244;207	ENSP00000181383:F244C;ENSP00000400714:F207C	ENSP00000181383:F244C	F	-	2	0	CPB2	45536849	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.179000	0.03090	-1.408000	0.02040	-1.621000	0.00791	TTC	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.413	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	A	NM_001872		46638848	-1	no_errors	ENST00000181383	ensembl	human	known	70_37	missense	SNP	0.000	C	C	46638848	A	C	46638848	3	2	26	1	0	0	0	0	1	0	0	0	3802	246	9	5	556	5	CPB2	13	46638848	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08		46638848	68531030	104	4004										
MYCBP2	23077	genome.wustl.edu	37	chr13	77862415	77862415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttcctttttctgccattccaGaacgcaatggcgtacattac	6	12	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr13:77862415G>C	ENST00000544440.2	-	3	378	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L121V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L159V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCCATTCCAGAACGCAATGG	0.393																																																	0													147	148	147					13																	77862415		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.361C>G	13.37:g.77862415G>C	ENSP00000444596:p.Leu121Val			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L159V	ENST00000544440.2	37	c.475		13	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353400	0.41700	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.38560	1.14;1.13;1.14	5.96	5.11	0.69529	.	0.000000	0.64402	D	0.000008	T	0.55178	0.1904	L	0.52573	1.65	0.50313	D	0.999862	P	0.52842	0.956	D	0.65010	0.931	T	0.57487	-0.7803	10	0.72032	D	0.01	.	11.1018	0.48179	0.1613:0.0:0.8387:0.0	.	121	O75592	MYCB2_HUMAN	V	121;159;121	ENSP00000349892:L121V;ENSP00000384288:L159V;ENSP00000444596:L121V	ENSP00000349892:L121V	L	-	1	2	MYCBP2	76760416	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	5.125000	0.64715	1.497000	0.48584	0.655000	0.94253	CTG	MYCBP2	-	NULL		0.393	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77862415	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77862415	G	C	77862415	3	2	26	1	0	0	0	0	1	0	0	0	10041	933	33	1	13885	1	MYCBP2	13	77862415	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	31223567	77862415	37307463	105	4005										
ZNF219	51222	genome.wustl.edu	37	chr14	21560966	21560966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gcctttgcagtaggggcaacGgaaggcggacgatgaaggag	18	7	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:21560966G>A	ENST00000360947.3	-	3	901	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.R164C|ZNF219_ENST00000451119.2_Missense_Mutation_p.R164C	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	164					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TAGGGGCAACGGAAGGCGGAC	0.677											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	17	16					14																	21560966		2201	4297	6498	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.490C>T	14.37:g.21560966G>A	ENSP00000354206:p.Arg164Cys	749	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept	p.R164C	ENST00000360947.3	37	c.490	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256024	0.80246	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270	T;T;T;T	0.75938	0.85;0.85;0.85;-0.98	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000002	D	0.82559	0.5063	M	0.64080	1.96	0.54753	D	0.999988	D	0.89917	1.0	D	0.73380	0.98	D	0.83608	0.0132	10	0.87932	D	0	-10.219	11.0886	0.48102	0.0:0.0:0.8156:0.1844	.	164	Q9P2Y4	ZN219_HUMAN	C	164	ENSP00000354206:R164C;ENSP00000388558:R164C;ENSP00000392401:R164C;ENSP00000450803:R164C	ENSP00000354206:R164C	R	-	1	0	ZNF219	20630806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.131000	0.57970	2.665000	0.90641	0.591000	0.81541	CGT	ZNF219	-	smart_Znf_C2H2-like		0.677	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2	G			21560966	-1	no_errors	ENST00000360947	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21560966	G	A	21560966	3	1	26	1	0	0	0	0	1	0	0	0	17803	1116	39	2	1690	2	ZNF219	14	21560966	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		21560966	85788574	106	4006										
TINF2	26277	genome.wustl.edu	37	chr14	24711514	24711514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggcgaagcgtagagctgcggGacccgccaccaggggcgtag	18	12	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:24711514G>A	ENST00000267415.7	-	1	366	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	TINF2_ENST00000558566.1_Missense_Mutation_p.P9S|TINF2_ENST00000559019.1_Missense_Mutation_p.P9S|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.P9S|TINF2_ENST00000399423.4_Missense_Mutation_p.P9S|TINF2_ENST00000538777.1_5'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	9					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGAGCTGCGGGACCCGCCACC	0.677									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	17	16					14																	24711514		1817	3995	5812	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.25C>T	14.37:g.24711514G>A	ENSP00000267415:p.Pro9Ser	773	B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	NULL	p.P9S	ENST00000267415.7	37	c.25	CCDS41936.1	14	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733943	0.30684	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	D;D;D	0.87412	-2.24;-2.12;-2.25	5.41	2.44	0.29823	.	0.570670	0.17222	N	0.182310	T	0.77837	0.4190	L	0.29908	0.895	0.35098	D	0.764975	P;B;P	0.36392	0.551;0.035;0.551	B;B;B	0.38842	0.283;0.025;0.189	T	0.78008	-0.2372	10	0.66056	D	0.02	-8.4276	3.3735	0.07229	0.0934:0.1847:0.553:0.1688	.	9;9;9	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	S	9	ENSP00000267415:P9S;ENSP00000442154:P9S;ENSP00000382350:P9S	ENSP00000267415:P9S	P	-	1	0	TINF2	23781354	0.111000	0.22076	0.090000	0.20809	0.260000	0.26232	0.431000	0.21444	0.834000	0.34852	0.561000	0.74099	CCC	TINF2	-	NULL		0.677	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINF2	HGNC	protein_coding	OTTHUMT00000415406.2	G			24711514	-1	no_errors	ENST00000267415	ensembl	human	known	70_37	missense	SNP	0.017	A	A	24711514	G	A	24711514	3	1	26	1	0	0	0	0	1	0	0	0	15953	1174	41	1	1370	1	TINF2	14	24711514	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	3150548	24711514	82638026	107	4007										
STXBP6	29091	genome.wustl.edu	37	chr14	25326285	25326285	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gctgctcgagcatccactgtGatctccgaacaaatgatgtg	10	11	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:25326285G>A	ENST00000323944.5	-	3	684	c.233C>T	c.(232-234)tCa>tTa	p.S78L	STXBP6_ENST00000548724.1_Missense_Mutation_p.S78L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S78L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S78L|STXBP6_ENST00000546511.1_Missense_Mutation_p.S78L|STXBP6_ENST00000396700.1_Missense_Mutation_p.S78L|STXBP6_ENST00000419632.2_Missense_Mutation_p.S78L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	78					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CATCCACTGTGATCTCCGAAC	0.463																																																	0													234	207	216					14																	25326285		2203	4300	6503	SO:0001583	missense	29091			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.233C>T	14.37:g.25326285G>A	ENSP00000324302:p.Ser78Leu		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin	p.S78L	ENST00000323944.5	37	c.233	CCDS9634.1	14	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862587	0.71949	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.84	5.84	0.93424	.	0.198268	0.45126	D	0.000395	T	0.59376	0.2189	L	0.60455	1.87	0.80722	D	1	B	0.34103	0.437	B	0.31495	0.131	T	0.56890	-0.7904	9	0.30854	T	0.27	-21.225	17.6318	0.88111	0.0:0.0:1.0:0.0	.	78	Q8NFX7	STXB6_HUMAN	L	78	.	ENSP00000324302:S78L	S	-	2	0	STXBP6	24396125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.779000	0.95612	0.655000	0.94253	TCA	STXBP6	-	NULL		0.463	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STXBP6	HGNC	protein_coding	OTTHUMT00000409166.1	G			25326285	-1	no_errors	ENST00000323944	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25326285	G	A	25326285	3	1	26	1	0	0	0	0	1	0	0	0	15388	1294	45	1	415	1	STXBP6	14	25326285	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	614771	25326285	82023255	108	4008										
YLPM1	56252	genome.wustl.edu	37	chr14	75266402	75266402	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aagaactgaaaatgcttcggTaagttgactccttcagatcc	8	9	1	4			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:75266402T>C	ENST00000325680.7	+	5	4524		c.e5+2		YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Splice_Site	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1						regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AATGCTTCGGTAAGTTGACTC	0.373																																																	0													34	32	32					14																	75266402		1879	4118	5997	SO:0001630	splice_region_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4400+2T>C	14.37:g.75266402T>C			P49752|Q96I64|Q9P1V7	Splice_Site	SNP	-	e5+2	ENST00000325680.7	37	c.4400+2	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288276	0.80803	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1668	0.81768	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	YLPM1	74336155	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.155000	0.71833	2.220000	0.72140	0.519000	0.50382	.	YLPM1	-	-		0.373	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	T	NM_019589	Intron	75266402	1	no_errors	ENST00000325680	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	75266402	T	C	75266402	5	2	26	1	0	0	0	0	0	0	1	0	17517	1652	57	5	4420	5	YLPM1	14	75266402	Splice_Site	SNP	T	TCGA-C5-A1MN-01A-11D-A14W-08	49940117	75266402	32083138	109	4009										
EIF5	1983	genome.wustl.edu	37	chr14	103806896	103806896	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aagatgaagatgagaacattGaggtaaacattgggggagga	15	2	0	5			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:103806896G>A	ENST00000216554.3	+	11	1880	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	EIF5_ENST00000392715.2_Missense_Mutation_p.E402K|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.E402K	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	402	Asp/Glu-rich (highly acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGAGAACATTGAGGTAAACAT	0.423																																																	0													73	75	75					14																	103806896		2203	4300	6503	SO:0001583	missense	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1204G>A	14.37:g.103806896G>A	ENSP00000216554:p.Glu402Lys		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain	p.E402K	ENST00000216554.3	37	c.1204	CCDS9980.1	14	.	.	.	.	.	.	.	.	.	.	.	36	5.858071	0.97036	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.90324	-2.65;-2.65	6.1	6.1	0.99115	.	0.107780	0.64402	D	0.000005	D	0.91882	0.7430	M	0.83483	2.645	0.80722	D	1	P	0.35807	0.522	B	0.35931	0.214	D	0.91296	0.5063	10	0.54805	T	0.06	-9.9494	18.8952	0.92420	0.0:0.0:1.0:0.0	.	402	P55010	IF5_HUMAN	K	402	ENSP00000216554:E402K;ENSP00000376477:E402K	ENSP00000216554:E402K	E	+	1	0	EIF5	102876649	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.403000	0.97302	2.902000	0.99343	0.650000	0.86243	GAG	EIF5	-	NULL		0.423	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	HGNC	protein_coding	OTTHUMT00000415329.2	G	NM_001969		103806896	1	no_errors	ENST00000216554	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103806896	G	A	103806896	3	1	26	1	0	0	0	0	1	0	0	0	5052	1291	45	1	1238	1	EIF5	14	103806896	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	28540494	103806896	3542644	110	4010										
C15orf63	25764	genome.wustl.edu	37	chr15	44092974	44092974	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggagatccagagttccaatCtggagacggtaaggttggcc	14	8	1	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:44092974C>T	ENST00000406925.1	+	2	4289	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	SERINC4_ENST00000319327.6_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank|SERF2_ENST00000600633.1_Silent_p.L60L|SERINC4_ENST00000249714.3_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000442995.2_Silent_p.L60L|SERF2_ENST00000594896.1_Silent_p.L106L|HYPK_ENST00000458412.1_Silent_p.L60L|HYPK_ENST00000498605.1_3'UTR			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	60						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GAGTTCCAATCTGGAGACGGT	0.622																																																	0													23	23	23					15																	44092974		2197	4298	6495	SO:0001819	synonymous_variant	10169			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.178C>T	15.37:g.44092974C>T			C9JKJ0|O75408|Q8WUW8|Q9P024	Silent	SNP	NULL	p.L106	ENST00000406925.1	37	c.316	CCDS10104.1	15																																																																																			SERF2	-	NULL		0.622	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133876.3	C	NM_016400		44092974	1	no_errors	ENST00000594896	ensembl	human	known	70_37	silent	SNP	0.532	T	T	44092974	C	T	44092974	2	4	26	1	0	0	0	0	0	0	0	1	1813	912	32	1		1	C15orf63	15	44092974	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		44092974	58438418	111	4011										
B2M	567	genome.wustl.edu	37	chr15	45007719	45007719	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggtttcatccatccgacattGaagttgacttactgaagaat	8	8	1	4	rs11553042		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:45007719G>T	ENST00000558401.1	+	2	236	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Nonsense_Mutation_p.E56*|B2M_ENST00000544417.1_Nonsense_Mutation_p.E56*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	56	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATCCGACATTGAAGTTGACTT	0.408																																																	0													184	189	187					15																	45007719		2198	4298	6496	SO:0001587	stop_gained	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.166G>T	15.37:g.45007719G>T	ENSP00000452780:p.Glu56*		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Nonsense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	p.E56*	ENST00000558401.1	37	c.166	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812554	0.70912	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	.	.	.	6.03	3.04	0.35103	.	0.682486	0.14875	N	0.293325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.8394	0.23955	0.285:0.0:0.715:0.0	.	.	.	.	X	56	.	ENSP00000340858:E56X	E	+	1	0	B2M	42795011	0.020000	0.18652	0.775000	0.31657	0.009000	0.06853	0.152000	0.16302	1.469000	0.48083	0.655000	0.94253	GAA	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.408	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	G	NM_004048		45007719	1	no_errors	ENST00000544417	ensembl	human	known	70_37	nonsense	SNP	0.202	T	T	45007719	G	T	45007719	4	4	26	1	0	0	0	0	0	1	0	0	1245	1291	45	3	172	3	B2M	15	45007719	Nonsense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	914745	45007719	57523673	112	4012										
FBN1	2200	genome.wustl.edu	37	chr15	48936854	48936854	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttctcttggcccgactggctCtggtttccttcacgttccca	8	15	3	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:48936854C>T	ENST00000316623.5	-	2	568	c.113G>A	c.(112-114)aGa>aAa	p.R38K	RP11-227D13.1_ENST00000558061.1_lincRNA|FBN1_ENST00000560355.1_Missense_Mutation_p.R38K	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	38					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCGACTGGCTCTGGTTTCCTT	0.577																																																	0													191	183	186					15																	48936854		2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.113G>A	15.37:g.48936854C>T	ENSP00000325527:p.Arg38Lys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R38K	ENST00000316623.5	37	c.113	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361792	0.41801	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	T;T	0.81163	-1.46;0.67	4.94	4.02	0.46733	.	0.181068	0.42420	D	0.000715	T	0.61413	0.2345	N	0.16743	0.435	0.26721	N	0.970785	B	0.18741	0.03	B	0.18263	0.021	T	0.43750	-0.9372	10	0.06099	T	0.92	.	9.9738	0.41770	0.0:0.9062:0.0:0.0938	.	38	P35555	FBN1_HUMAN	K	38	ENSP00000325527:R38K;ENSP00000440294:R38K	ENSP00000325527:R38K	R	-	2	0	FBN1	46724146	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	3.861000	0.56002	1.299000	0.44798	0.585000	0.79938	AGA	FBN1	-	pirsf_FBN		0.577	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C			48936854	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	0.967	T	T	48936854	C	T	48936854	3	4	26	1	0	0	0	0	1	0	0	0	5720	913	32	1	8762	1	FBN1	15	48936854	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	3929135	48936854	53594538	113	4013										
CCPG1	9236	genome.wustl.edu	37	chr15	55651779	55651779	+	Frame_Shift_Del	DEL	C	C	-													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aagtgtgaccaaagaagtgtCtatatatatattcatccaac					rs372895000		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:55651779delC	ENST00000310958.6	-	8	2490	c.2192delG	c.(2191-2193)agafs	p.R731fs	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.R731fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.R731fs|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.R348fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	731					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAAGAAGTGTCTATATATATA	0.333																																																	0													62	62	62					15																	55651779		1813	4057	5870	SO:0001589	frameshift_variant	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2192delG	15.37:g.55651779delC	ENSP00000311656:p.Arg731fs		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Del	DEL	NULL	p.R731fs	ENST00000310958.6	37	c.2192	CCDS42039.1	15																																																																																			CCPG1	-	NULL		0.333	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55651779	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	55651779	C	-	55651779	7	5	26	1	0	1	0	1	0	0	0	0	2943	913	32	0	85	0	CCPG1	15	55651779	Frame_Shift_Del	DEL	C	TCGA-C5-A1MN-01A-11D-A14W-08	6714925	55651779	46879613	114	4014										
MNS1	55329	genome.wustl.edu	37	chr15	56748599	56748599	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gaaaccaagatacctgttttCtcttacttgttgcctcatct	5	11	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:56748599C>G	ENST00000260453.3	-	3	510	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	116	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TACCTGTTTTCTCTTACTTGT	0.323																																																	0													178	162	167					15																	56748599		2191	4292	6483	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.346G>C	15.37:g.56748599C>G	ENSP00000260453:p.Glu116Gln		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.E116Q	ENST00000260453.3	37	c.346	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019996	0.75275	.	.	ENSG00000138587	ENST00000260453	T	0.13901	2.55	5.61	5.61	0.85477	.	0.093491	0.64402	D	0.000001	T	0.41650	0.1168	M	0.82630	2.6	0.51482	D	0.999926	D	0.89917	1.0	D	0.74348	0.983	T	0.14587	-1.0467	10	0.42905	T	0.14	-22.6881	17.491	0.87703	0.0:1.0:0.0:0.0	.	116	Q8NEH6	MNS1_HUMAN	Q	116	ENSP00000260453:E116Q	ENSP00000260453:E116Q	E	-	1	0	MNS1	54535891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.185000	0.50934	2.793000	0.96121	0.655000	0.94253	GAA	MNS1	-	NULL		0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	C	NM_018365		56748599	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56748599	C	G	56748599	3	3	26	1	0	0	0	0	1	0	0	0	9700	922	32	1	1173	1	MNS1	15	56748599	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1096820	56748599	45782793	115	4015										
CGNL1	84952	genome.wustl.edu	37	chr15	57754079	57754079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ccctgagggagagtgtggaaGaagcaaccaaggtgagggat	17	6	0	4			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:57754079G>A	ENST00000281282.5	+	8	2470	c.2392G>A	c.(2392-2394)Gaa>Aaa	p.E798K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	798						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGTGTGGAAGAAGCAACCAA	0.527																																																	0													81	77	78					15																	57754079		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2392G>A	15.37:g.57754079G>A	ENSP00000281282:p.Glu798Lys		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.E798K	ENST00000281282.5	37	c.2392	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724156	0.48728	.	.	ENSG00000128849	ENST00000281282	T	0.41758	0.99	5.56	5.56	0.83823	.	0.437153	0.20614	N	0.088911	T	0.32971	0.0847	L	0.31664	0.95	0.37910	D	0.931348	B	0.12630	0.006	B	0.10450	0.005	T	0.16217	-1.0410	10	0.44086	T	0.13	-10.9681	13.2397	0.59989	0.0826:0.0:0.9174:0.0	.	798	Q0VF96	CGNL1_HUMAN	K	798	ENSP00000281282:E798K	ENSP00000281282:E798K	E	+	1	0	CGNL1	55541371	1.000000	0.71417	0.910000	0.35882	0.767000	0.43475	5.056000	0.64287	2.618000	0.88619	0.551000	0.68910	GAA	CGNL1	-	prints_Tropomyosin		0.527	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	G	NM_032866		57754079	1	no_errors	ENST00000281282	ensembl	human	known	70_37	missense	SNP	0.997	A	A	57754079	G	A	57754079	3	1	26	1	0	0	0	0	1	0	0	0	3309	943	33	1	2418	1	CGNL1	15	57754079	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1005480	57754079	44777313	116	4016										
FAM63B	54629	genome.wustl.edu	37	chr15	59080149	59080149	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	atcataactgctgagcagctGatggaatatttaggttagtg	11	5	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:59080149G>A	ENST00000559228.1	+	2	967	c.885G>A	c.(883-885)ctG>ctA	p.L295L	FAM63B_ENST00000450403.2_Silent_p.L295L			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	295										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGAGCAGCTGATGGAATATT	0.313																																																	0													104	103	103					15																	59080149		1784	4059	5843	SO:0001819	synonymous_variant	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.885G>A	15.37:g.59080149G>A			B2RTT8|Q9ULQ6	Silent	SNP	pfam_DUF544	p.L295	ENST00000559228.1	37	c.885	CCDS42046.1	15																																																																																			FAM63B	-	pfam_DUF544		0.313	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	G	NM_019092		59080149	1	no_errors	ENST00000559228	ensembl	human	known	70_37	silent	SNP	1.000	A	A	59080149	G	A	59080149	2	1	26	1	0	0	0	0	0	0	0	1	5615	1277	45	1		1	FAM63B	15	59080149	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1326070	59080149	43451243	117	4017										
TARSL2	123283	genome.wustl.edu	37	chr15	102244135	102244135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgcaaaggtcaattaatggaCcgcacctataatgaaatatt	7	7	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:102244135C>T	ENST00000335968.3	-	8	1217	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	334					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATTAATGGACCGCACCTATA	0.333																																																	0													83	80	81					15																	102244135		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1001G>A	15.37:g.102244135C>T	ENSP00000338093:p.Gly334Asp		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.G334D	ENST00000335968.3	37	c.1001	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229586	0.79688	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.98	4.98	0.66077	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88078	0.2805	9	0.72032	D	0.01	-19.469	15.7623	0.78096	0.0:1.0:0.0:0.0	.	334	A2RTX5	SYTC2_HUMAN	D	334;239;334	.	ENSP00000329291:G239D	G	-	2	0	TARSL2	100061658	1.000000	0.71417	0.992000	0.48379	0.785000	0.44390	7.603000	0.82811	2.313000	0.78055	0.467000	0.42956	GGT	TARSL2	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa		0.333	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102244135	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102244135	C	T	102244135	3	4	26	1	0	0	0	0	1	0	0	0	15591	507	18	4	1455	4	TARSL2	15	102244135	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	43163986	102244135	287257	118	4018										
SOLH	6650	genome.wustl.edu	37	chr16	602965	602965	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cctacctgcacgtgcagtgtGactgcaccgacagcttcaac	9	15	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:602965G>A	ENST00000219611.2	+	13	3370	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1003					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGTGCAGTGTGACTGCACCGA	0.672																																																	0													85	77	80					16																	602965		2200	4298	6498	SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3007G>A	16.37:g.602965G>A	ENSP00000219611:p.Asp1003Asn		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D1003N	ENST00000219611.2	37	c.3007	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	21.7	4.188729	0.78789	.	.	ENSG00000103326	ENST00000219611	D	0.93604	-3.25	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95785	0.8820	10	0.59425	D	0.04	.	17.7416	0.88408	0.0:0.0:1.0:0.0	.	1003	O75808	CAN15_HUMAN	N	1003	ENSP00000219611:D1003N	ENSP00000219611:D1003N	D	+	1	0	SOLH	542966	1.000000	0.71417	0.988000	0.46212	0.854000	0.48673	9.360000	0.97119	2.605000	0.88082	0.506000	0.49869	GAC	SOLH	-	NULL		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	G	NM_005632		602965	1	no_errors	ENST00000219611	ensembl	human	known	70_37	missense	SNP	1.000	A	A	602965	G	A	602965	3	1	26	1	0	0	0	0	1	0	0	0	14955	1290	45	1	3045	1	SOLH	16	602965	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		602965	89751788	119	4019										
RHOT2	89941	genome.wustl.edu	37	chr16	721776	721776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agagagtgtttgagaagcacGaccaggtgagagcatggcga	16	6	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:721776G>A	ENST00000315082.4	+	12	1063	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	317	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D317N(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGAGAAGCACGACCAGGTGAG	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											80	77	78					16																	721776		2198	4297	6495	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.949G>A	16.37:g.721776G>A	ENSP00000321971:p.Asp317Asn		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2	p.D317N	ENST00000315082.4	37	c.949	CCDS10417.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.129048	0.94473	.	.	ENSG00000140983	ENST00000315082	T	0.31247	1.5	5.26	5.26	0.73747	EF-hand-like domain (1);	0.044434	0.85682	D	0.000000	T	0.60805	0.2297	M	0.91406	3.205	0.80722	D	1	D	0.76494	0.999	P	0.58520	0.84	T	0.71758	-0.4496	10	0.87932	D	0	-3.3443	17.4344	0.87547	0.0:0.0:1.0:0.0	.	317	Q8IXI1	MIRO2_HUMAN	N	317	ENSP00000321971:D317N	ENSP00000321971:D317N	D	+	1	0	RHOT2	661777	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	9.267000	0.95665	2.466000	0.83321	0.561000	0.74099	GAC	RHOT2	-	pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2		0.672	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOT2	HGNC	protein_coding	OTTHUMT00000241617.1	G	NM_138769		721776	1	no_errors	ENST00000315082	ensembl	human	known	70_37	missense	SNP	1.000	A	A	721776	G	A	721776	3	1	26	1	0	0	0	0	1	0	0	0	13374	1058	37	1	995	1	RHOT2	16	721776	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	118811	721776	89632977	120	4020										
KIAA0556	23247	genome.wustl.edu	37	chr16	27761023	27761023	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cgctcccaccggggacgcatCtccaacacggagctcccggg	12	18	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:27761023C>G	ENST00000261588.4	+	16	2761	c.2742C>G	c.(2740-2742)atC>atG	p.I914M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	914						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGACGCATCTCCAACACGG	0.652																																																	0													55	52	53					16																	27761023		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2742C>G	16.37:g.27761023C>G	ENSP00000261588:p.Ile914Met		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.I914M	ENST00000261588.4	37	c.2742	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478769	0.63849	.	.	ENSG00000047578	ENST00000261588	T	0.17054	2.3	4.7	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.68952	2.095	0.35953	D	0.83402	D	0.89917	1.0	D	0.79784	0.993	T	0.33214	-0.9877	10	0.72032	D	0.01	-17.9926	5.8433	0.18645	0.1636:0.6723:0.0:0.1641	.	914	O60303	K0556_HUMAN	M	914	ENSP00000261588:I914M	ENSP00000261588:I914M	I	+	3	3	KIAA0556	27668524	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.200000	0.42724	2.320000	0.78422	0.655000	0.94253	ATC	KIAA0556	-	NULL		0.652	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27761023	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27761023	C	G	27761023	3	3	26	1	0	0	0	0	1	0	0	0	8203	903	32	1	2804	1	KIAA0556	16	27761023	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	27039247	27761023	62593730	121	4021										
ZNF646	9726	genome.wustl.edu	37	chr16	31091077	31091077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cacatggcagaggaggggccGgggcaagcagaagtcgagaa	18	8	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:31091077G>A	ENST00000394979.2	+	1	3855	c.3432G>A	c.(3430-3432)ccG>ccA	p.P1144P	ZNF646_ENST00000300850.5_Silent_p.P1144P			O15015	ZN646_HUMAN	zinc finger protein 646	1144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGGAGGGGCCGGGGCAAGCAG	0.607																																																	0													29	36	34					16																	31091077		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3432G>A	16.37:g.31091077G>A			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1144	ENST00000394979.2	37	c.3432		16																																																																																			ZNF646	-	NULL		0.607	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31091077	1	no_errors	ENST00000300850	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31091077	G	A	31091077	2	1	26	1	0	0	0	0	0	0	0	1	18092	1103	39	2		2	ZNF646	16	31091077	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	3330054	31091077	59263676	122	4022										
CES3	23491	genome.wustl.edu	37	chr16	66998385	66998385	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgtcactgtctttggtggatCtgccggtgggagcatcatct	13	9	5	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:66998385C>G	ENST00000303334.4	+	5	757	c.686C>G	c.(685-687)tCt>tGt	p.S229C	CES3_ENST00000394037.1_Missense_Mutation_p.S229C|RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	229						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTTGGTGGATCTGCCGGTGGG	0.582																																																	0													100	103	102					16																	66998385		2200	4300	6500	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.686C>G	16.37:g.66998385C>G	ENSP00000304782:p.Ser229Cys		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.S229C	ENST00000303334.4	37	c.686	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939952	0.73557	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	Carboxylesterase, type B (1);	0.000000	0.41097	D	0.000944	D	0.83238	0.5211	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90388	0.4393	10	0.87932	D	0	.	15.4933	0.75629	0.0:1.0:0.0:0.0	.	229	Q6UWW8	EST3_HUMAN	C	229	ENSP00000304782:S229C;ENSP00000377602:S229C	ENSP00000304782:S229C	S	+	2	0	CES3	65555886	0.999000	0.42202	0.027000	0.17364	0.008000	0.06430	4.820000	0.62671	2.259000	0.74868	0.655000	0.94253	TCT	CES3	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.582	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	C	NM_024922		66998385	1	no_errors	ENST00000303334	ensembl	human	known	70_37	missense	SNP	0.985	G	G	66998385	C	G	66998385	3	3	26	1	0	0	0	0	1	0	0	0	3276	913	32	1	704	1	CES3	16	66998385	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	35907308	66998385	23356368	123	4023										
ELMO3	1874	genome.wustl.edu	37	chr16	67233630	67233630	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gttacgccctgcagtttgcgGatgggcaccggagatacatc	13	11	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:67233630G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Missense_Mutation_p.D108N|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000360833.1_Missense_Mutation_p.D108N|ELMO3_ENST00000477898.1_De_novo_Start_OutOfFrame	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCAGTTTGCGGATGGGCACCG	0.677																																																	0													50	58	55					16																	67233630		2079	4201	6280	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233630G>A			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.D108N	ENST00000379378.3	37	c.322	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.892562	0.97074	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.20069	2.13;2.1	5.19	5.19	0.71726	.	0.061455	0.64402	U	0.000008	T	0.47414	0.1444	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45220	-0.9276	10	0.56958	D	0.05	-6.1615	17.3023	0.87185	0.0:0.0:1.0:0.0	.	108;108	F8W9E7;Q96BJ8-3	.;.	N	108	ENSP00000354077:D108N;ENSP00000377566:D108N	ENSP00000354077:D108N	D	+	1	0	ELMO3	65791131	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	8.766000	0.91728	2.416000	0.81992	0.563000	0.77884	GAT	ELMO3	-	NULL		0.677	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	G	NM_001950		67233630	1	no_errors	ENST00000393997	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67233630	G	A	67233630	1	1	26	0	1	0	0	0	0	0	0	0	5079	1174	41	1		1	ELMO3	16	67233630	IGR	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	235245	67233630	23121123	124	4024										
LCAT	3931	genome.wustl.edu	37	chr16	67974269	67974269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctgggtgtggaaatgaacacGtggtcctcaggccacgccat	13	11	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:67974269G>A	ENST00000264005.5	-	6	890	c.861C>T	c.(859-861)caC>caT	p.H287H		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	287					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AAATGAACACGTGGTCCTCAG	0.557																																																	0													144	122	129					16																	67974269		2198	4300	6498	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.861C>T	16.37:g.67974269G>A			Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.H287	ENST00000264005.5	37	c.861	CCDS10854.1	16																																																																																			LCAT	-	pfam_LACT/PDAT_acylTrfase		0.557	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974269	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	silent	SNP	0.271	A	A	67974269	G	A	67974269	2	1	26	1	0	0	0	0	0	0	0	1	8678	1136	40	2		2	LCAT	16	67974269	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	740639	67974269	22380484	125	4025										
ESRP2	80004	genome.wustl.edu	37	chr16	68266312	68266313	+	Nonsense_Mutation	DNP	GC	GC	AA													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	catgtggtgcttgtgtctctGcagcgctaggtcccgctgct							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:68266312_68266313GC>AA	ENST00000565858.1	-	8	1031_1032	c.945_946GC>TT	c.(943-948)ctGCag>ctTTag	p.Q316*	ESRP2_ENST00000473183.2_Nonsense_Mutation_p.Q306*	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	316	RRM 1.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTGTGTCTCTGCAGCGCTAGGT	0.634																																																	0																																										SO:0001587	stop_gained	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.945_946delinsAA	16.37:g.68266312_68266313delinsAA	ENSP00000454554:p.Gln316*		Q8N6H8|Q8WZ15|Q9H6I4	Nonsense_Mutation|Silent	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.Q316*|p.L315	ENST00000565858.1	37	c.946|c.945		16																																																																																			ESRP2	-	smart_RRM_dom		0.634	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	G|C	NM_024939		68266312|68266313	-1	no_errors	ENST00000565858	ensembl	human	known	70_37	nonsense|silent	SNP	1.000	A	AA	68266313	GC	AA	68266312	4	1	26	1	0	0	0	0	0	1	0	0	5271	1328	46	4	1269	4	ESRP2	16	68266312	Nonsense_Mutation	DNP	GC	TCGA-C5-A1MN-01A-11D-A14W-08	292043	68266312	22088441	126	4026										
ATMIN	23300	genome.wustl.edu	37	chr16	81077781	81077781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agactttaaatcaagatattGagaaatctgcaccaattata	5	6	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:81077781G>C	ENST00000299575.4	+	4	1702	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.E404Q|ATMIN_ENST00000564241.1_Missense_Mutation_p.E404Q	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	560					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCAAGATATTGAGAAATCTGC	0.343																																																	0													42	42	42					16																	81077781		2202	4299	6501	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1678G>C	16.37:g.81077781G>C	ENSP00000299575:p.Glu560Gln		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.E560Q	ENST00000299575.4	37	c.1678	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055671	0.36277	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.31247	1.5	6.17	5.22	0.72569	.	0.251483	0.34932	N	0.003572	T	0.32315	0.0825	M	0.65975	2.015	0.27050	N	0.963808	P	0.42827	0.791	B	0.37650	0.255	T	0.34304	-0.9834	10	0.49607	T	0.09	-17.1769	12.7236	0.57156	0.0748:0.0:0.9252:0.0	.	560	O43313	ATMIN_HUMAN	Q	560;331	ENSP00000299575:E560Q	ENSP00000299575:E560Q	E	+	1	0	ATMIN	79635282	0.898000	0.30612	0.972000	0.41901	0.721000	0.41392	2.192000	0.42649	1.620000	0.50308	0.655000	0.94253	GAG	ATMIN	-	NULL		0.343	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	G	NM_015251		81077781	1	no_errors	ENST00000299575	ensembl	human	known	70_37	missense	SNP	0.642	C	C	81077781	G	C	81077781	3	2	26	1	0	0	0	0	1	0	0	0	1111	1291	45	1	1692	1	ATMIN	16	81077781	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	12811469	81077781	9276972	127	4027										
CDK12	51755	genome.wustl.edu	37	chr17	37649098	37649098	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acattattgggattattggaGaaggaacctatggccaagta	11	5	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:37649098G>A	ENST00000447079.4	+	4	2236	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	CDK12_ENST00000430627.2_Missense_Mutation_p.E735K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GATTATTGGAGAAGGAACCTA	0.368			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													80	82	81					17																	37649098		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2203G>A	17.37:g.37649098G>A	ENSP00000398880:p.Glu735Lys		A7E2B2|B4DYX4|B9EIQ6|O94978	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.E735K	ENST00000447079.4	37	c.2203	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.073488	0.94000	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.65916	-0.18;-0.18	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000190	T	0.74076	0.3669	L	0.35644	1.08	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.75156	-0.3417	10	0.87932	D	0	-17.2299	20.2576	0.98430	0.0:0.0:1.0:0.0	.	734;735;735	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	735	ENSP00000407720:E735K;ENSP00000398880:E735K	ENSP00000407720:E735K	E	+	1	0	CDK12	34902624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.783000	0.95769	0.655000	0.94253	GAA	CDK12	-	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		0.368	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37649098	1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37649098	G	A	37649098	3	1	26	1	0	0	0	0	1	0	0	0	3133	943	33	1	2217	1	CDK12	17	37649098	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		37649098	43546112	128	4028										
KRT28	162605	genome.wustl.edu	37	chr17	38950265	38950265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctgcgtacagtagttgctctCggtctctgtcaaggagcact	11	11	3	0	rs201969522		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:38950265C>T	ENST00000306658.7	-	6	1077	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTTGCTCTCGGTCTCTGTC	0.557																																					Melanoma(19;789 869 15380 26882 39836)												0								C	LYS/GLU	0,4406		0,0,2203	117	120	119		1012	5.7	1	17		119	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT28	NM_181535.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	338/465	38950265	2,13004	2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1012G>A	17.37:g.38950265C>T	ENSP00000305263:p.Glu338Lys			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E338K	ENST00000306658.7	37	c.1012	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249305	0.80024	0.0	2.33E-4	ENSG00000173908	ENST00000306658	D	0.91577	-2.87	5.71	5.71	0.89125	Filament (1);	0.000000	0.64402	D	0.000009	D	0.93762	0.8006	M	0.80847	2.515	0.48452	D	0.999655	D	0.54047	0.964	P	0.51385	0.668	D	0.93660	0.6981	10	0.54805	T	0.06	.	19.2052	0.93728	0.0:1.0:0.0:0.0	.	338	Q7Z3Y7	K1C28_HUMAN	K	338	ENSP00000305263:E338K	ENSP00000305263:E338K	E	-	1	0	KRT28	36203791	0.880000	0.30214	0.989000	0.46669	0.814000	0.46013	2.066000	0.41452	2.850000	0.98022	0.655000	0.94253	GAG	KRT28	-	pfam_F		0.557	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950265	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.992	T	T	38950265	C	T	38950265	3	4	26	1	0	0	0	0	1	0	0	0	8485	893	31	1	394	1	KRT28	17	38950265	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1301167	38950265	42244945	129	4029										
KRT34	3885	genome.wustl.edu	37	chr17	39537389	39537389	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggtcagacttgcagagggtCagctcatccaggatcctgcg	13	11	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:39537389C>G	ENST00000394001.1	-	3	663	c.633G>C	c.(631-633)ctG>ctC	p.L211L		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	211	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGCAGAGGGTCAGCTCATCCA	0.547																																																	0													160	134	143					17																	39537389		2203	4300	6503	SO:0001819	synonymous_variant	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.633G>C	17.37:g.39537389C>G			Q8IUT8|Q8N4W2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L211	ENST00000394001.1	37	c.633	CCDS11390.1	17																																																																																			KRT34	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.547	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	C	NM_021013		39537389	-1	no_errors	ENST00000394001	ensembl	human	known	70_37	silent	SNP	1.000	G	G	39537389	C	G	39537389	2	3	26	1	0	0	0	0	0	0	0	1	8491	813	29	1		1	KRT34	17	39537389	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	587124	39537389	41657821	130	4030										
ADAM11	4185	genome.wustl.edu	37	chr17	42850447	42850447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aagtccgtggtgaacctggcCgatgtggtaagcagctctcc	13	11	1	1	rs140421831		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:42850447C>T	ENST00000200557.6	+	10	988	c.819C>T	c.(817-819)gcC>gcT	p.A273A	ADAM11_ENST00000535346.1_Silent_p.A73A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	273	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGAACCTGGCCGATGTGGTAA	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		14183	0		0	False		,,,				2504	0																0								C		0,4406		0,0,2203	90	79	82		819	-10.1	0.5	17	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM11	NM_002390.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		273/770	42850447	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.819C>T	17.37:g.42850447C>T			Q14808|Q14809|Q14810	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A273	ENST00000200557.6	37	c.819	CCDS11486.1	17																																																																																			ADAM11	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.622	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	C	NM_002390		42850447	1	no_errors	ENST00000200557	ensembl	human	known	70_37	silent	SNP	0.379	T	T	42850447	C	T	42850447	2	4	26	1	0	0	0	0	0	0	0	1	235	639	23	2		2	ADAM11	17	42850447	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	3313058	42850447	38344763	131	4031										
C1QL1	10882	genome.wustl.edu	37	chr17	43044840	43044840	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctggccattcttgcagaggtCtgcccacatactggtgccgt	11	13	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:43044840C>T	ENST00000253407.3	-	1	599	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	193	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				TTGCAGAGGTCTGCCCACATA	0.657																																																	0													51	47	48					17																	43044840		2202	4300	6502	SO:0001583	missense	10882			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.577G>A	17.37:g.43044840C>T	ENSP00000253407:p.Asp193Asn			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D193N	ENST00000253407.3	37	c.577	CCDS11492.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.089503	0.94149	.	.	ENSG00000131094	ENST00000253407	T	0.74737	-0.87	4.84	4.84	0.62591	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.73254	-0.4041	10	0.15952	T	0.53	.	15.4729	0.75453	0.0:1.0:0.0:0.0	.	193	O75973	C1QRF_HUMAN	N	193	ENSP00000253407:D193N	ENSP00000253407:D193N	D	-	1	0	C1QL1	40400366	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.556000	0.82233	2.506000	0.84524	0.462000	0.41574	GAC	C1QL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.657	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL1	HGNC	protein_coding	OTTHUMT00000371119.3	C	NM_006688		43044840	-1	no_errors	ENST00000253407	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43044840	C	T	43044840	3	4	26	1	0	0	0	0	1	0	0	0	1963	913	32	1	207	1	C1QL1	17	43044840	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	194393	43044840	38150370	132	4032										
STXBP4	252983	genome.wustl.edu	37	chr17	53077096	53077096	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tagaagcttcaggagaatatGgacctcaagcctcaacatta	8	9	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:53077096G>T	ENST00000376352.2	+	6	598	c.391G>T	c.(391-393)Gga>Tga	p.G131*	STXBP4_ENST00000405898.1_Nonsense_Mutation_p.G131*|STXBP4_ENST00000398391.2_Nonsense_Mutation_p.G56*|STXBP4_ENST00000299341.4_Nonsense_Mutation_p.G56*|STXBP4_ENST00000434978.2_Nonsense_Mutation_p.G131*	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	131					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGGAGAATATGGACCTCAAGC	0.373																																																	0													91	86	88					17																	53077096		2203	4300	6503	SO:0001587	stop_gained	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.391G>T	17.37:g.53077096G>T	ENSP00000365530:p.Gly131*		Q8IVZ5	Nonsense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.G131*	ENST00000376352.2	37	c.391	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	37	6.160236	0.97334	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	.	.	.	5.17	3.2	0.36748	.	0.536026	0.20312	N	0.094815	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.654	9.4813	0.38902	0.1626:0.0:0.8374:0.0	.	.	.	.	X	131;56;131;131;56	.	ENSP00000299341:G56X	G	+	1	0	STXBP4	50432095	0.099000	0.21834	0.221000	0.23827	0.667000	0.39255	1.701000	0.37825	0.765000	0.33221	-0.137000	0.14449	GGA	STXBP4	-	NULL		0.373	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53077096	1	no_errors	ENST00000376352	ensembl	human	known	70_37	nonsense	SNP	0.003	T	T	53077096	G	T	53077096	4	4	26	1	0	0	0	0	0	1	0	0	15385	1349	47	4	405	4	STXBP4	17	53077096	Nonsense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	10032256	53077096	28118114	133	4033										
KCNH6	81033	genome.wustl.edu	37	chr17	61611355	61611355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tcaaggccgtgtgggactggCtcatcctgctgctggtcatc	13	12	3	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:61611355C>T	ENST00000583023.1	+	5	795	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	KCNH6_ENST00000581784.1_Missense_Mutation_p.L262F|KCNH6_ENST00000580652.1_Missense_Mutation_p.L262F|KCNH6_ENST00000456941.2_Missense_Mutation_p.L262F|KCNH6_ENST00000314672.5_Missense_Mutation_p.L262F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	262					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTGGGACTGGCTCATCCTGCT	0.647																																																	0													165	135	145					17																	61611355		2203	4300	6503	SO:0001583	missense	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.784C>T	17.37:g.61611355C>T	ENSP00000463533:p.Leu262Phe		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.L262F	ENST00000583023.1	37	c.784	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068496	0.20067	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.97404	-4.37;-4.37	4.19	4.19	0.49359	.	0.142256	0.47455	D	0.000226	D	0.96172	0.8752	L	0.52759	1.655	0.43613	D	0.995989	P;B;B;B;B	0.34909	0.475;0.119;0.243;0.407;0.088	B;B;B;B;B	0.42653	0.186;0.109;0.394;0.175;0.053	D	0.96261	0.9191	10	0.48119	T	0.1	.	16.6996	0.85345	0.0:1.0:0.0:0.0	.	139;262;262;262;262	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	F	262	ENSP00000318212:L262F;ENSP00000396900:L262F	ENSP00000318212:L262F	L	+	1	0	KCNH6	58965087	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	2.692000	0.47018	2.153000	0.67306	0.305000	0.20034	CTC	KCNH6	-	NULL		0.647	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	C	NM_030779		61611355	1	no_errors	ENST00000583023	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61611355	C	T	61611355	3	4	26	1	0	0	0	0	1	0	0	0	8056	797	28	4	802	4	KCNH6	17	61611355	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	8534259	61611355	19583855	134	4034										
ICAM2	3384	genome.wustl.edu	37	chr17	62081145	62081145	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gttgaatgtggctgtggcctCctgcggagcaggggctgcct	17	10	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:62081145C>A	ENST00000412356.1	-	5	862	c.508G>T	c.(508-510)Gag>Tag	p.E170*	ICAM2_ENST00000418105.1_Nonsense_Mutation_p.E170*|ICAM2_ENST00000578892.1_Nonsense_Mutation_p.E146*|ICAM2_ENST00000578379.1_Nonsense_Mutation_p.E69*|ICAM2_ENST00000579687.1_Nonsense_Mutation_p.E170*|ICAM2_ENST00000449662.2_Nonsense_Mutation_p.E170*|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Nonsense_Mutation_p.E170*	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	170	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGTGGCCTCCTGCGGAGCA	0.617																																																	0													75	63	67					17																	62081145		2203	4300	6503	SO:0001587	stop_gained	3384				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.508G>T	17.37:g.62081145C>A	ENSP00000415283:p.Glu170*		Q14600	Nonsense_Mutation	SNP	pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM	p.E170*	ENST00000412356.1	37	c.508	CCDS11657.1	17	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905006	0.72868	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	.	.	.	5.54	3.56	0.40772	.	0.719983	0.13884	N	0.356122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.0335	7.2981	0.26405	0.0:0.8084:0.0:0.1916	.	.	.	.	X	170	.	ENSP00000415283:E170X	E	-	1	0	ICAM2	59434877	0.005000	0.15991	0.008000	0.14137	0.013000	0.08279	0.748000	0.26305	1.333000	0.45449	0.561000	0.74099	GAG	ICAM2	-	NULL		0.617	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM2	HGNC	protein_coding	OTTHUMT00000443687.1	C			62081145	-1	no_errors	ENST00000412356	ensembl	human	known	70_37	nonsense	SNP	0.013	A	A	62081145	C	A	62081145	4	1	26	1	0	0	0	0	0	1	0	0	7500	864	30	3	327	3	ICAM2	17	62081145	Nonsense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	469790	62081145	19114065	135	4035										
RNF213	57674	genome.wustl.edu	37	chr17	78318498	78318498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cgtacacgtgtaccccagttCagttttcttgacatcttccc	6	14	3	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:78318498C>T	ENST00000582970.1	+	29	6506	c.6363C>T	c.(6361-6363)ttC>ttT	p.F2121F	RNF213_ENST00000508628.2_Silent_p.F2170F|RNF213_ENST00000336301.6_Silent_p.F194F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2121					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TACCCCAGTTCAGTTTTCTTG	0.468																																																	0													184	179	181					17																	78318498		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6363C>T	17.37:g.78318498C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.F2121	ENST00000582970.1	37	c.6363	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78318498	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.382	T	T	78318498	C	T	78318498	2	4	26	1	0	0	0	0	0	0	0	1	13507	825	29	1		1	RNF213	17	78318498	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	16237353	78318498	2876712	136	4036										
RNF213	57674	genome.wustl.edu	37	chr17	78318661	78318661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agtatttaagacgattcaatCaaaaccaagacctagacacg	6	9	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:78318661C>G	ENST00000582970.1	+	29	6669	c.6526C>G	c.(6526-6528)Caa>Gaa	p.Q2176E	RNF213_ENST00000508628.2_Missense_Mutation_p.Q2225E|RNF213_ENST00000336301.6_Missense_Mutation_p.Q249E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2176					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGATTCAATCAAAACCAAGA	0.493																																																	0													100	96	97					17																	78318661		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6526C>G	17.37:g.78318661C>G	ENSP00000464087:p.Gln2176Glu		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q2176E	ENST00000582970.1	37	c.6526	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644403	0.03531	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21734	1.99	5.57	2.34	0.29019	.	0.424073	0.22570	N	0.058350	T	0.14874	0.0359	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30851	-0.9964	10	0.13108	T	0.6	.	11.7141	0.51641	0.1857:0.3945:0.4198:0.0	.	249	Q63HN8	RN213_HUMAN	E	2176;2225;249	ENSP00000338218:Q249E	ENSP00000338218:Q249E	Q	+	1	0	RNF213	75933256	0.004000	0.15560	0.002000	0.10522	0.077000	0.17291	0.547000	0.23299	0.251000	0.21505	-0.176000	0.13171	CAA	RNF213	-	NULL		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78318661	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.001	G	G	78318661	C	G	78318661	3	3	26	1	0	0	0	0	1	0	0	0	13507	827	29	1	6955	1	RNF213	17	78318661	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	163	78318661	2876549	137	4037										
DLGAP1	9229	genome.wustl.edu	37	chr18	3729211	3729211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ctcagggacacgcactcgtcGtcctgggagcagcctttctc	11	15	2	0	rs369261142		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:3729211G>A	ENST00000315677.3	-	7	2110	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	DLGAP1_ENST00000581699.1_Silent_p.D211D|DLGAP1_ENST00000539435.1_Silent_p.D203D|DLGAP1_ENST00000534970.1_Silent_p.D217D|DLGAP1_ENST00000400155.1_Silent_p.D211D|DLGAP1_ENST00000584874.1_Silent_p.D505D|DLGAP1_ENST00000400150.3_Silent_p.D211D|DLGAP1_ENST00000400145.2_Silent_p.D203D|DLGAP1_ENST00000581527.1_Silent_p.D505D|DLGAP1_ENST00000400147.2_Silent_p.D203D|DLGAP1_ENST00000400149.3_Silent_p.D213D|DLGAP1_ENST00000515196.2_Silent_p.D505D|DLGAP1_ENST00000478161.1_5'UTR	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	505					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCACTCGTCGTCCTGGGAGC	0.682																																																	0								G	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	54	41	46		609,1515,651,651,633,609,609,1515	1.6	1	18		46	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLGAP1	NM_001003809.2,NM_001242761.1,NM_001242762.1,NM_001242763.1,NM_001242764.1,NM_001242765.1,NM_001242766.1,NM_004746.3	,,,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	203/676,505/930,217/662,217/700,211/684,203/628,203/686,505/978	3729211	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1515C>T	18.37:g.3729211G>A			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.D505	ENST00000315677.3	37	c.1515	CCDS11836.1	18																																																																																			DLGAP1	-	NULL		0.682	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	G			3729211	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	silent	SNP	0.996	A	A	3729211	G	A	3729211	2	1	26	1	0	0	0	0	0	0	0	1	4569	1136	40	2		2	DLGAP1	18	3729211	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		3729211	74348037	138	4038										
NOL4	8715	genome.wustl.edu	37	chr18	31432886	31432886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgattctcgatatcctgcaaCaagctgtctcacggcattga	8	11	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:31432886C>A	ENST00000261592.5	-	11	2134	c.1837G>T	c.(1837-1839)Gtt>Ttt	p.V613F	NOL4_ENST00000538587.1_Missense_Mutation_p.V539F|NOL4_ENST00000535475.1_Missense_Mutation_p.V394F|NOL4_ENST00000535384.1_Missense_Mutation_p.V328F|NOL4_ENST00000269185.4_Missense_Mutation_p.V397F|NOL4_ENST00000589544.1_Missense_Mutation_p.V511F	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	613						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TATCCTGCAACAAGCTGTCTC	0.463																																																	0													130	113	119					18																	31432886		2203	4300	6503	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1837G>T	18.37:g.31432886C>A	ENSP00000261592:p.Val613Phe		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.V613F	ENST00000261592.5	37	c.1837	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311365	0.60414	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	T	0.77391	0.4123	L	0.53249	1.67	0.58432	D	0.99999	D;D;D;D;D;D	0.76494	0.996;0.996;0.999;0.996;0.984;0.999	P;P;D;P;D;D	0.74023	0.907;0.899;0.974;0.907;0.946;0.982	T	0.77416	-0.2596	9	0.87932	D	0	-14.0226	20.4082	0.99013	0.0:1.0:0.0:0.0	.	328;539;613;328;511;394	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	F	613;397;328;394;539	.	ENSP00000261592:V613F	V	-	1	0	NOL4	29686884	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	5.655000	0.67981	2.814000	0.96858	0.655000	0.94253	GTT	NOL4	-	NULL		0.463	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	C	NM_003787		31432886	-1	no_errors	ENST00000261592	ensembl	human	known	70_37	missense	SNP	0.999	A	A	31432886	C	A	31432886	3	1	26	1	0	0	0	0	1	0	0	0	10548	478	17	4	83	4	NOL4	18	31432886	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	27703675	31432886	46644362	139	4039										
DTNA	1837	genome.wustl.edu	37	chr18	32443934	32443934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gctgcttctttcttagacagCgcaaagatgagctggaacag	11	9	2	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:32443934C>T	ENST00000399113.3	+	16	1570	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	DTNA_ENST00000601125.1_Missense_Mutation_p.R146C|DTNA_ENST00000269190.7_Missense_Mutation_p.R525C|DTNA_ENST00000399121.5_Missense_Mutation_p.R464C|DTNA_ENST00000591182.1_Missense_Mutation_p.R172C|DTNA_ENST00000595022.1_Missense_Mutation_p.R464C|DTNA_ENST00000596745.1_Missense_Mutation_p.R274C|DTNA_ENST00000399097.3_Missense_Mutation_p.R172C|DTNA_ENST00000597599.1_Missense_Mutation_p.R464C|DTNA_ENST00000348997.5_Missense_Mutation_p.R521C|DTNA_ENST00000283365.9_Missense_Mutation_p.R467C|DTNA_ENST00000598774.1_Missense_Mutation_p.R467C|DTNA_ENST00000599844.1_Splice_Site_p.S144S|DTNA_ENST00000598334.1_Missense_Mutation_p.R464C|DTNA_ENST00000597674.1_Missense_Mutation_p.R146C|DTNA_ENST00000444659.1_Missense_Mutation_p.R524C|DTNA_ENST00000269192.7_Missense_Mutation_p.R233C|DTNA_ENST00000598142.1_Missense_Mutation_p.R467C|DTNA_ENST00000269191.6_Missense_Mutation_p.R524C|DTNA_ENST00000556414.3_Missense_Mutation_p.R176C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	524					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTTAGACAGCGCAAAGATGA	0.488																																																	0													59	57	58					18																	32443934		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1570C>T	18.37:g.32443934C>T	ENSP00000382064:p.Arg524Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R525C	ENST00000399113.3	37	c.1573	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105508	0.77096	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.26518	1.76;1.73;1.86;1.73;1.86;1.73	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.991;0.999;0.998;0.999;0.999;0.999;0.997;0.999;0.999;0.997;0.998;0.996	T	0.59289	-0.7482	10	0.87932	D	0	-15.4736	15.045	0.71822	0.3331:0.6669:0.0:0.0	.	176;233;214;274;524;524;464;467;172;521;464;475;467;467	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	C	467;467;464;525;172;521;524;524;524;524;233;172;176	ENSP00000283365:R467C;ENSP00000269190:R525C;ENSP00000336682:R521C;ENSP00000405819:R524C;ENSP00000269191:R524C;ENSP00000382064:R524C	ENSP00000269190:R525C	R	+	1	0	DTNA	30697932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.478000	0.35442	1.459000	0.47892	0.655000	0.94253	CGC	DTNA	-	pirsf_Distrobrevin		0.488	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32443934	1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32443934	C	T	32443934	3	4	26	1	0	0	0	0	1	0	0	0	4798	768	27	2	1667	2	DTNA	18	32443934	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	1011048	32443934	45633314	140	4040										
MOCOS	55034	genome.wustl.edu	37	chr18	33779772	33779772	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cagggcccagagagcagtggGagtcgcttctgttacctcac	13	12	2	1	rs200042891		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:33779772G>C	ENST00000261326.5	+	4	447	c.426G>C	c.(424-426)ggG>ggC	p.G142G		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAGCAGTGGGAGTCGCTTCT	0.582																																																	0													55	47	50					18																	33779772		2203	4300	6503	SO:0001819	synonymous_variant	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.426G>C	18.37:g.33779772G>C				Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.G142	ENST00000261326.5	37	c.426	CCDS11919.1	18																																																																																			MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.582	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	G			33779772	1	no_errors	ENST00000261326	ensembl	human	known	70_37	silent	SNP	0.991	C	C	33779772	G	C	33779772	2	2	26	1	0	0	0	0	0	0	0	1	9712	1161	41	1		1	MOCOS	18	33779772	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1335838	33779772	44297476	141	4041										
NACC1	112939	genome.wustl.edu	37	chr19	13246773	13246773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tggggtggcagcagcaggggGtgtggtgagtgggcccagca	22	7	0	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:13246773G>A	ENST00000292431.4	+	2	878	c.752G>A	c.(751-753)gGt>gAt	p.G251D		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	251					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCAGCAGGGGGTGTGGTGAGT	0.721																																																	0													22	25	24					19																	13246773		2186	4289	6475	SO:0001583	missense	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.752G>A	19.37:g.13246773G>A	ENSP00000292431:p.Gly251Asp			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.G251D	ENST00000292431.4	37	c.752	CCDS12294.1	19	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267889	0.10349	.	.	ENSG00000160877	ENST00000292431	T	0.55760	0.5	5.19	-1.44	0.08856	.	0.339869	0.29087	N	0.013196	T	0.35038	0.0918	L	0.40543	1.245	0.09310	N	1	P	0.43431	0.807	B	0.39738	0.308	T	0.44802	-0.9304	10	0.12430	T	0.62	.	9.7048	0.40209	0.0883:0.5808:0.3309:0.0	.	251	Q96RE7	NACC1_HUMAN	D	251	ENSP00000292431:G251D	ENSP00000292431:G251D	G	+	2	0	NACC1	13107773	0.270000	0.24152	0.012000	0.15200	0.048000	0.14542	-0.229000	0.09098	-0.382000	0.07870	-0.720000	0.03607	GGT	NACC1	-	NULL		0.721	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	G	NM_052876		13246773	1	no_errors	ENST00000292431	ensembl	human	known	70_37	missense	SNP	0.010	A	A	13246773	G	A	13246773	3	1	26	1	0	0	0	0	1	0	0	0	10158	1261	44	4	754	4	NACC1	19	13246773	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08		13246773	45882210	142	4042										
RASAL3	64926	genome.wustl.edu	37	chr19	15562617	15562617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	atgggcagctcaggtggtgtCtccattgaggcagggtgctt	16	8	2	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:15562617C>T	ENST00000343625.7	-	18	3110	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000389282.4_5'Flank|WIZ_ENST00000263381.7_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	1009					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGGTGGTGTCTCCATTGAGG	0.597																																																	0													95	102	100					19																	15562617		2066	4186	6252	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.3025G>A	19.37:g.15562617C>T	ENSP00000341905:p.Asp1009Asn		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.D1009N	ENST00000343625.7	37	c.3025	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777632	0.49786	.	.	ENSG00000105122	ENST00000343625	T	0.36340	1.26	4.23	3.17	0.36434	.	0.531595	0.14119	U	0.340165	T	0.25382	0.0617	L	0.27053	0.805	0.22918	N	0.998565	B	0.06786	0.001	B	0.04013	0.001	T	0.21690	-1.0238	10	0.87932	D	0	.	8.371	0.32415	0.0:0.8861:0.0:0.1139	.	1009	Q86YV0	RASL3_HUMAN	N	1009	ENSP00000341905:D1009N	ENSP00000341905:D1009N	D	-	1	0	RASAL3	15423617	1.000000	0.71417	0.995000	0.50966	0.709000	0.40893	2.269000	0.43346	0.732000	0.32470	0.462000	0.41574	GAC	RASAL3	-	NULL		0.597	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	C	NM_022904		15562617	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15562617	C	T	15562617	3	4	26	1	0	0	0	0	1	0	0	0	13095	913	32	1	14	1	RASAL3	19	15562617	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	2315844	15562617	43566366	143	4043										
COPE	11316	genome.wustl.edu	37	chr19	19010503	19010503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cagcctcaggcgctgggagcGtactgtagcaccagcctgtc	13	14	1	0	rs377486646		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:19010503G>A	ENST00000262812.4	-	10	960	c.912C>T	c.(910-912)taC>taT	p.Y304Y	COPE_ENST00000600932.1_Silent_p.Y327Y|COPE_ENST00000351079.4_Silent_p.Y253Y|COPE_ENST00000349893.4_Silent_p.Y252Y|CERS1_ENST00000542296.2_5'Flank|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	304					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CGCTGGGAGCGTACTGTAGCA	0.637																																																	0								G	,,	0,4406		0,0,2203	61	57	59		912,759,756	-7.1	0.1	19		59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	COPE	NM_007263.3,NM_199442.1,NM_199444.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	304/309,253/258,252/257	19010503	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.912C>T	19.37:g.19010503G>A			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.Y304	ENST00000262812.4	37	c.912	CCDS12387.1	19																																																																																			COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.637	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19010503	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	silent	SNP	0.994	A	A	19010503	G	A	19010503	2	1	26	1	0	0	0	0	0	0	0	1	3735	1140	40	2		2	COPE	19	19010503	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	3447886	19010503	40118480	144	4044										
ZNF100	163227	genome.wustl.edu	37	chr19	21910654	21910654	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttctttgtgcactttacactCatccacacttttacagcctt	3	13	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:21910654C>T	ENST00000358296.6	-	5	658	c.460G>A	c.(460-462)Gag>Aag	p.E154K	ZNF100_ENST00000305570.6_Missense_Mutation_p.E90K	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTTTACACTCATCCACACTT	0.333																																																	0													156	155	155					19																	21910654		2040	4238	6278	SO:0001583	missense	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.460G>A	19.37:g.21910654C>T	ENSP00000351042:p.Glu154Lys		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E154K	ENST00000358296.6	37	c.460	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	8.101	0.776633	0.16120	.	.	ENSG00000197020	ENST00000358296	T	0.04809	3.55	1.13	-0.112	0.13572	.	.	.	.	.	T	0.06050	0.0157	M	0.66297	2.02	0.09310	N	1	P;B	0.39748	0.686;0.325	B;B	0.37833	0.259;0.188	T	0.30297	-0.9983	9	0.46703	T	0.11	.	4.8189	0.13381	0.0:0.593:0.0:0.407	.	154;208	Q8IYN0;Q4G131	ZN100_HUMAN;.	K	154	ENSP00000351042:E154K	ENSP00000351042:E154K	E	-	1	0	ZNF100	21702494	.	.	0.029000	0.17559	0.260000	0.26232	.	.	0.523000	0.28482	0.174000	0.16983	GAG	ZNF100	-	NULL		0.333	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	C	NM_173531		21910654	-1	no_errors	ENST00000358296	ensembl	human	known	70_37	missense	SNP	0.034	T	T	21910654	C	T	21910654	3	4	26	1	0	0	0	0	1	0	0	0	17743	835	29	1	1172	1	ZNF100	19	21910654	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	2900151	21910654	37218329	145	4045										
MAG	4099	genome.wustl.edu	37	chr19	35793405	35793405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggtggccgtagagggggagaCggtctctatcttgtgctcca	16	9	2	2	rs199924214		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:35793405C>T	ENST00000392213.3	+	7	1184	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	MAG_ENST00000361922.4_Missense_Mutation_p.T342M|MAG_ENST00000537831.2_Missense_Mutation_p.T317M	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGGGGGAGACGGTCTCTATC	0.577													C|||	1	0.000199681	0	0	5008	,	,		20027	0		0	False		,,,				2504	0.001																0													106	88	94					19																	35793405		2203	4300	6503	SO:0001583	missense	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1025C>T	19.37:g.35793405C>T	ENSP00000376048:p.Thr342Met		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T342M	ENST00000392213.3	37	c.1025	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565172	0.45694	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.12879	2.64;2.64;2.64	5.28	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.416754	0.26601	N	0.023466	T	0.31734	0.0806	M	0.74389	2.26	0.46701	D	0.999168	D;D;D	0.76494	0.998;0.995;0.999	P;P;P	0.60012	0.652;0.81;0.867	T	0.04796	-1.0926	10	0.52906	T	0.07	.	11.9245	0.52812	0.0:0.9139:0.0:0.0861	.	379;342;342	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	379;342;342;317	ENSP00000355234:T342M;ENSP00000376048:T342M;ENSP00000440695:T317M	ENSP00000262624:T379M	T	+	2	0	MAG	40485245	0.586000	0.26782	0.721000	0.30653	0.148000	0.21650	2.130000	0.42064	1.216000	0.43427	0.455000	0.32223	ACG	MAG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.577	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	C	NM_080600		35793405	1	no_errors	ENST00000392213	ensembl	human	known	70_37	missense	SNP	0.863	T	T	35793405	C	T	35793405	3	4	26	1	0	0	0	0	1	0	0	0	9185	536	19	2	1043	2	MAG	19	35793405	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	13882751	35793405	23335578	146	4046										
GRIK5	2901	genome.wustl.edu	37	chr19	42507794	42507794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cagccggttgttctcctgaaGctgcaggatggccagtgtga	14	10	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:42507794G>T	ENST00000262895.3	-	17	2304	c.2305C>A	c.(2305-2307)Ctt>Att	p.L769I	GRIK5_ENST00000593562.1_Missense_Mutation_p.L769I|GRIK5_ENST00000301218.4_Missense_Mutation_p.L769I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	769					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCTCCTGAAGCTGCAGGATG	0.667																																																	0													56	49	51					19																	42507794		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2305C>A	19.37:g.42507794G>T	ENSP00000262895:p.Leu769Ile		Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L769I	ENST00000262895.3	37	c.2305	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.493350|4.493350	0.84962|0.84962	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.13538	.|2.58;2.58	4.44|4.44	4.44|4.44	0.53790|0.53790	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.45696|0.45696	0.1355|0.1355	M|M	0.91354|0.91354	3.2|3.2	0.46044|0.46044	D|D	0.998833|0.998833	.|D	.|0.58620	.|0.983	.|D	.|0.71870	.|0.975	T|T	0.59364|0.59364	-0.7468|-0.7468	5|10	.|0.66056	.|D	.|0.02	.|.	15.8312|15.8312	0.78752|0.78752	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|769	.|Q16478	.|GRIK5_HUMAN	D|I	145|769	.|ENSP00000262895:L769I;ENSP00000301218:L769I	.|ENSP00000262895:L769I	A|L	-|-	2|1	0|0	GRIK5|GRIK5	47199634|47199634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.363000|6.363000	0.73082|0.73082	2.013000|2.013000	0.59113|0.59113	0.555000|0.555000	0.69702|0.69702	GCT|CTT	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.667	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	G			42507794	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42507794	G	T	42507794	3	4	26	1	0	0	0	0	1	0	0	0	6797	971	34	4	649	4	GRIK5	19	42507794	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	6714389	42507794	16621189	147	4047										
CIC	23152	genome.wustl.edu	37	chr19	42796810	42796810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cctgtgcagcccccggaggtCctgtcataacagcattttac	9	14	1	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:42796810C>A	ENST00000575354.2	+	14	3308	c.3268C>A	c.(3268-3270)Cct>Act	p.P1090T	CIC_ENST00000160740.3_Missense_Mutation_p.P1089T|CIC_ENST00000572681.2_Missense_Mutation_p.P1998T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1090	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCCGGAGGTCCTGTCATAAC	0.667			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													55	63	60					19																	42796810		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3268C>A	19.37:g.42796810C>A	ENSP00000458663:p.Pro1090Thr		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P1090T	ENST00000575354.2	37	c.3268	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906490	0.52333	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.34716	0.0907	N	0.14661	0.345	0.39715	D	0.971383	P	0.37466	0.596	B	0.32211	0.142	T	0.44757	-0.9307	8	0.87932	D	0	-10.7595	13.7669	0.63002	0.0:1.0:0.0:0.0	.	1090	Q96RK0	CIC_HUMAN	T	1090	.	ENSP00000160740:P1090T	P	+	1	0	CIC	47488650	0.999000	0.42202	0.964000	0.40570	0.789000	0.44602	3.406000	0.52637	2.639000	0.89480	0.491000	0.48974	CCT	CIC	-	NULL		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	C			42796810	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	0.997	A	A	42796810	C	A	42796810	3	1	26	1	0	0	0	0	1	0	0	0	3429	855	30	3	3322	3	CIC	19	42796810	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	289016	42796810	16332173	148	4048										
SIRPD	128646	genome.wustl.edu	37	chr20	1532442	1532442	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agcatcagcaagagagatttCacggatgcgggtggaaaagt	14	6	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr20:1532442C>T	ENST00000381623.3	-	2	1505	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E106K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	106	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGAGAGATTTCACGGATGCGG	0.448																																																	0													152	149	150					20																	1532442		2203	4300	6503	SO:0001583	missense	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.316G>A	20.37:g.1532442C>T	ENSP00000371036:p.Glu106Lys		B3KS88|Q5TFQ6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E106K	ENST00000381623.3	37	c.316	CCDS13018.1	20	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827715	0.32329	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.63744	-0.06;-0.06	4.03	-0.163	0.13363	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047140	0.07611	N	0.925406	T	0.43678	0.1258	N	0.16233	0.39	0.09310	N	1	B	0.21520	0.057	B	0.23018	0.043	T	0.37709	-0.9694	10	0.54805	T	0.06	.	6.077	0.19921	0.0:0.5241:0.0:0.4759	.	106	Q9H106	SIRPD_HUMAN	K	106	ENSP00000371036:E106K;ENSP00000371034:E106K	ENSP00000371034:E106K	E	-	1	0	SIRPD	1480442	0.002000	0.14202	0.003000	0.11579	0.014000	0.08584	-0.818000	0.04467	0.124000	0.18369	0.558000	0.71614	GAA	SIRPD	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.448	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPD	HGNC	protein_coding	OTTHUMT00000077552.1	C	NM_178460		1532442	-1	no_errors	ENST00000381621	ensembl	human	known	70_37	missense	SNP	0.003	T	T	1532442	C	T	1532442	3	4	26	1	0	0	0	0	1	0	0	0	14365	835	29	1	289	1	SIRPD	20	1532442	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		1532442	61493078	149	4049										
CDC25B	994	genome.wustl.edu	37	chr20	3782998	3782998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cctcctggacagtgaccaccGagagctgattggagattact	11	11	0	4			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr20:3782998G>A	ENST00000245960.5	+	11	1866	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CDC25B_ENST00000340833.4_Missense_Mutation_p.R349Q|CDC25B_ENST00000439880.2_Missense_Mutation_p.R376Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R299Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R326Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	390					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTGACCACCGAGAGCTGATT	0.567																																																	0													61	60	61					20																	3782998		2203	4300	6503	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1169G>A	20.37:g.3782998G>A	ENSP00000245960:p.Arg390Gln		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.R390Q	ENST00000245960.5	37	c.1169	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090659	0.76756	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.85	3.89	0.44902	Rhodanese-like (1);	0.347042	0.27986	N	0.017051	T	0.39306	0.1073	L	0.61218	1.895	0.34710	D	0.72764	D;D;D;D;D;D	0.71674	0.969;0.969;0.969;0.982;0.982;0.998	B;B;B;B;B;P	0.54856	0.252;0.252;0.252;0.436;0.436;0.762	T	0.49341	-0.8950	10	0.12766	T	0.61	-23.5439	11.1044	0.48194	0.0927:0.0:0.9073:0.0	.	299;312;326;349;376;390	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Q	326;299;390;376;349	ENSP00000339125:R326Q;ENSP00000368918:R299Q;ENSP00000245960:R390Q;ENSP00000405972:R376Q;ENSP00000339170:R349Q	ENSP00000245960:R390Q	R	+	2	0	CDC25B	3730998	0.002000	0.14202	0.836000	0.33094	0.849000	0.48306	1.199000	0.32235	1.171000	0.42768	0.563000	0.77884	CGA	CDC25B	-	superfamily_Rhodanese-like_dom		0.567	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3782998	1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	0.862	A	A	3782998	G	A	3782998	3	1	26	1	0	0	0	0	1	0	0	0	3068	1058	37	1	1211	1	CDC25B	20	3782998	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	2250556	3782998	59242522	150	4050										
KIF3B	9371	genome.wustl.edu	37	chr20	30898811	30898811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aggaggaaggggatgataagGatgattactggcgggaacag	18	3	0	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr20:30898811G>T	ENST00000375712.3	+	2	1398	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	411					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ggaTGATAAGGATGATTACTG	0.557																																																	0													75	67	70					20																	30898811		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1231G>T	20.37:g.30898811G>T	ENSP00000364864:p.Asp411Tyr		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D411Y	ENST00000375712.3	37	c.1231	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047659	0.55110	.	.	ENSG00000101350	ENST00000375712	T	0.74947	-0.89	4.93	4.93	0.64822	.	0.200744	0.43260	D	0.000583	T	0.70482	0.3229	L	0.34521	1.04	0.80722	D	1	P	0.40875	0.731	B	0.42738	0.396	T	0.75202	-0.3401	10	0.72032	D	0.01	.	18.3226	0.90243	0.0:0.0:1.0:0.0	.	411	O15066	KIF3B_HUMAN	Y	411	ENSP00000364864:D411Y	ENSP00000364864:D411Y	D	+	1	0	KIF3B	30362472	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.463000	0.73530	2.574000	0.86865	0.448000	0.29417	GAT	KIF3B	-	NULL		0.557	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	G	NM_004798		30898811	1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30898811	G	T	30898811	3	4	26	1	0	0	0	0	1	0	0	0	8321	1174	41	3	1233	3	KIF3B	20	30898811	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	27115813	30898811	32126709	151	4051										
NCAM2	4685	genome.wustl.edu	37	chr21	22710717	22710717	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tattctttacagtacagcctCacataatacagcttaaaaat	3	9	2	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:22710717C>G	ENST00000400546.1	+	8	1156	c.907C>G	c.(907-909)Cac>Gac	p.H303D	NCAM2_ENST00000535285.1_Missense_Mutation_p.H328D|NCAM2_ENST00000284894.7_Missense_Mutation_p.H161D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	303	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTACAGCCTCACATAATACA	0.363																																																	0													53	52	53					21																	22710717		1840	4081	5921	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.907C>G	21.37:g.22710717C>G	ENSP00000383392:p.His303Asp		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	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,prints_Neural_cell_adh	p.H303D	ENST00000400546.1	37	c.907	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315956	0.60524	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.59638	0.25;0.34;1.34	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042474	0.85682	D	0.000000	T	0.65048	0.2654	L	0.38692	1.165	0.58432	D	0.999996	P;P;B	0.45531	0.86;0.509;0.327	P;P;B	0.54544	0.755;0.527;0.155	T	0.66308	-0.5956	10	0.87932	D	0	-16.9086	18.6141	0.91296	0.0:1.0:0.0:0.0	.	328;161;303	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	D	303;161;328	ENSP00000383392:H303D;ENSP00000284894:H161D;ENSP00000441887:H328D	ENSP00000284894:H161D	H	+	1	0	NCAM2	21632588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.141000	0.58038	2.736000	0.93811	0.591000	0.81541	CAC	NCAM2	-	pfscan_Ig-like,prints_Neural_cell_adh		0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22710717	1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22710717	C	G	22710717	3	3	26	1	0	0	0	0	1	0	0	0	10227	826	29	1	937	1	NCAM2	21	22710717	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		22710717	25419178	152	4052										
ADAMTS1	9510	genome.wustl.edu	37	chr21	28217230	28217230	+	Missense_Mutation	SNP	C	C	G													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ccgcgttccccatgtcgctgCccagcttgcgccttccgaac							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:28217230C>G	ENST00000284984.3	-	1	498	c.44G>C	c.(43-45)gGc>gCc	p.G15A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	15					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CATGTCGCTGCCCAGCTTGCG	0.692											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	13	13					21																	28217230		2116	4116	6232	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.44G>C	21.37:g.28217230C>G	ENSP00000284984:p.Gly15Ala	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.G15A	ENST00000284984.3	37	c.44	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	C	7.347	0.622172	0.14193	.	.	ENSG00000154734	ENST00000284984	T	0.60299	0.2	3.47	1.65	0.23941	.	.	.	.	.	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	B	0.30793	0.295	B	0.26202	0.067	T	0.16305	-1.0407	9	0.15952	T	0.53	.	5.569	0.17187	0.0:0.7474:0.0:0.2526	.	15	Q9UHI8	ATS1_HUMAN	A	15	ENSP00000284984:G15A	ENSP00000284984:G15A	G	-	2	0	ADAMTS1	27139101	0.065000	0.20965	0.029000	0.17559	0.841000	0.47740	0.498000	0.22530	0.469000	0.27268	-0.266000	0.10368	GGC	ADAMTS1	-	prints_Pept_M12B_ADAM-TS1		0.692	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	C			28217230	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	0.060	G	G	28217230	C	G	28217230	3	3	26	1	0	0	0	0	1	0	0	0	255	739	26	4	2895	4	ADAMTS1	21	28217230	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	5506513	28217230	19912665	153	4053	20	2								
ADAMTS1	9510	genome.wustl.edu	37	chr21	28217233	28217233	+	Missense_Mutation	SNP	A	A	T													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cgttccccatgtcgctgcccAgcttgcgccttccgaacccc							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:28217233A>T	ENST00000284984.3	-	1	495	c.41T>A	c.(40-42)cTg>cAg	p.L14Q		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	14					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTCGCTGCCCAGCTTGCGCCT	0.692											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	14	13					21																	28217233		2113	4103	6216	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.41T>A	21.37:g.28217233A>T	ENSP00000284984:p.Leu14Gln	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.L14Q	ENST00000284984.3	37	c.41	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	A	16.56	3.157725	0.57368	.	.	ENSG00000154734	ENST00000284984	T	0.61980	0.06	3.61	-2.09	0.07232	.	.	.	.	.	T	0.34774	0.0909	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.16722	0.016	T	0.16158	-1.0412	9	0.52906	T	0.07	.	4.5408	0.12056	0.197:0.3257:0.4773:0.0	.	14	Q9UHI8	ATS1_HUMAN	Q	14	ENSP00000284984:L14Q	ENSP00000284984:L14Q	L	-	2	0	ADAMTS1	27139104	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-0.899000	0.04101	-0.415000	0.07484	0.454000	0.30748	CTG	ADAMTS1	-	prints_Pept_M12B_ADAM-TS1		0.692	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	A			28217233	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	0.001	T	T	28217233	A	T	28217233	3	4	26	1	0	0	0	0	1	0	0	0	255	188	7	5	2898	5	ADAMTS1	21	28217233	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08	3	28217233	19912662	154	4054	20	2								
DNAJC28	54943	genome.wustl.edu	37	chr21	34860889	34860889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tagacactaaaattgcctctCtgagttgctcaatagtatcg	7	9	2	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:34860889C>T	ENST00000314399.3	-	2	1250	c.812G>A	c.(811-813)aGa>aAa	p.R271K	DNAJC28_ENST00000381947.3_Missense_Mutation_p.R271K|DNAJC28_ENST00000402202.1_Missense_Mutation_p.R271K	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	271										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AATTGCCTCTCTGAGTTGCTC	0.398																																																	0													177	175	176					21																	34860889		2203	4300	6503	SO:0001583	missense	54943			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.812G>A	21.37:g.34860889C>T	ENSP00000320303:p.Arg271Lys		D3DSF2	Missense_Mutation	SNP	pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.R271K	ENST00000314399.3	37	c.812	CCDS13626.1	21	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072305	0.76415	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.37	5.37	0.77165	DnaJ homologue, subfamily C, member 28, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.47016	1.485	0.45354	D	0.998349	D	0.89917	1.0	D	0.87578	0.998	T	0.72704	-0.4213	9	0.39692	T	0.17	-21.5029	18.7084	0.91646	0.0:1.0:0.0:0.0	.	271	Q9NX36	DJC28_HUMAN	K	271	.	ENSP00000320303:R271K	R	-	2	0	DNAJC28	33782759	1.000000	0.71417	0.917000	0.36280	0.917000	0.54804	7.116000	0.77119	2.526000	0.85167	0.650000	0.86243	AGA	DNAJC28	-	pfam_DnaJ_homolog_subfam-C_membr-28		0.398	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC28	HGNC	protein_coding	OTTHUMT00000140454.3	C			34860889	-1	no_errors	ENST00000314399	ensembl	human	known	70_37	missense	SNP	0.997	T	T	34860889	C	T	34860889	3	4	26	1	0	0	0	0	1	0	0	0	4656	913	32	1	358	1	DNAJC28	21	34860889	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	6643656	34860889	13269006	155	4055										
SEC14L4	284904	genome.wustl.edu	37	chr22	30890922	30890922	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ccctccatgtcaaacaccatCagcgccatctcgatcttcct	4	18	4	0	rs199986939		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:30890922C>G	ENST00000255858.7	-	6	533	c.450G>C	c.(448-450)ctG>ctC	p.L150L	SEC14L4_ENST00000381982.3_Silent_p.L150L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.L135L|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.L96L	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	150	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CAAACACCATCAGCGCCATCT	0.592																																																	0													145	115	125					22																	30890922		2203	4300	6503	SO:0001819	synonymous_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.450G>C	22.37:g.30890922C>G			A5D6W7|A6NCV4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L150	ENST00000255858.7	37	c.450	CCDS13878.1	22																																																																																			SEC14L4	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	C	NM_174977		30890922	-1	no_errors	ENST00000255858	ensembl	human	known	70_37	silent	SNP	0.974	G	G	30890922	C	G	30890922	2	3	26	1	0	0	0	0	0	0	0	1	14014	813	29	1		1	SEC14L4	22	30890922	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		30890922	20413644	156	4056										
C22orf28	51493	genome.wustl.edu	37	chr22	32791044	32791044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cagcaatgaggggatggtgaGgagggaaagcgcgggtggat	21	4	0	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:32791044G>A	ENST00000216038.5	-	9	1246	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		GGGATGGTGAGGAGGGAAAGC	0.478																																																	0													232	163	186					22																	32791044		2203	4300	6503	SO:0001583	missense	51493			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1148C>T	22.37:g.32791044G>A	ENSP00000216038:p.Pro383Leu			Missense_Mutation	SNP	pfam_RtcB_family,superfamily_RtcB_family	p.P383L	ENST00000216038.5	37	c.1148	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731076	0.89390	.	.	ENSG00000100220	ENST00000216038	T	0.34472	1.36	5.79	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.75548	-0.3279	10	0.87932	D	0	-11.3991	12.5856	0.56416	0.1359:0.0:0.8641:0.0	.	383	Q9Y3I0	RTCB_HUMAN	L	383	ENSP00000216038:P383L	ENSP00000216038:P383L	P	-	2	0	C22orf28	31121044	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.906000	0.87423	1.459000	0.47892	0.555000	0.69702	CCT	C22orf28	-	pfam_RtcB_family,superfamily_RtcB_family		0.478	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf28	HGNC	protein_coding	OTTHUMT00000075188.3	G	NM_014306		32791044	-1	no_errors	ENST00000216038	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32791044	G	A	32791044	3	1	26	1	0	0	0	0	1	0	0	0	2145	1000	35	4	385	4	C22orf28	22	32791044	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	1900122	32791044	18513522	157	4057										
TTLL1	25809	genome.wustl.edu	37	chr22	43464472	43464472	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	tgtgagagcttgttgataagGaagatgccctttccctgggc	13	8	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:43464472G>C	ENST00000266254.7	-	5	687	c.447C>G	c.(445-447)ttC>ttG	p.F149L	TTLL1_ENST00000331018.7_Missense_Mutation_p.F149L	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	149	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTTGATAAGGAAGATGCCCT	0.547																																																	0													217	206	210					22																	43464472		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.447C>G	22.37:g.43464472G>C	ENSP00000266254:p.Phe149Leu		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.F149L	ENST00000266254.7	37	c.447	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.247826|4.247826	0.80024|0.80024	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.08282|.	3.11;3.11|.	5.54|5.54	-6.3|-6.3	0.02007|0.02007	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80132|0.80132	0.4567|0.4567	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	P;P|.	0.50819|.	0.939;0.934|.	P;P|.	0.59643|.	0.783;0.861|.	D|D	0.84556|0.84556	0.0647|0.0647	10|5	0.59425|.	D|.	0.04|.	.|.	15.8089|15.8089	0.78538|0.78538	0.7334:0.0:0.2666:0.0|0.7334:0.0:0.2666:0.0	.|.	149;149|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	L|C	149|75	ENSP00000333734:F149L;ENSP00000266254:F149L|.	ENSP00000266254:F149L|.	F|S	-|-	3|2	2|0	TTLL1|TTLL1	41794416|41794416	1.000000|1.000000	0.71417|0.71417	0.781000|0.781000	0.31783|0.31783	0.756000|0.756000	0.42949|0.42949	1.329000|1.329000	0.33770|0.33770	-1.017000|-1.017000	0.03367|0.03367	-0.140000|-0.140000	0.14226|0.14226	TTC|TCC	TTLL1	-	pfam_Tub_tyr_ligase		0.547	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	G	NM_012263		43464472	-1	no_errors	ENST00000266254	ensembl	human	known	70_37	missense	SNP	0.936	C	C	43464472	G	C	43464472	3	2	26	1	0	0	0	0	1	0	0	0	16753	1165	41	1	852	1	TTLL1	22	43464472	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	10673428	43464472	7840094	158	4058										
TTLL1	25809	genome.wustl.edu	37	chr22	43464588	43464588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	gggcagcatataggtgactgGaacaaagtctgcaaggcaaa	13	7	1	1			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:43464588G>C	ENST00000266254.7	-	5	571	c.331C>G	c.(331-333)Cca>Gca	p.P111A	TTLL1_ENST00000331018.7_Missense_Mutation_p.P111A	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	111	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TAGGTGACTGGAACAAAGTCT	0.552																																																	0													120	122	121					22																	43464588		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.331C>G	22.37:g.43464588G>C	ENSP00000266254:p.Pro111Ala		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.P111A	ENST00000266254.7	37	c.331	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.046936|4.046936	0.75846|0.75846	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000495814|ENST00000331018;ENST00000266254	.|T;T	.|0.07021	.|3.23;3.23	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.092891	.|0.85682	.|D	.|0.000000	T|T	0.45397|0.45397	0.1340|0.1340	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.62760|0.62760	-0.6786|-0.6786	5|10	.|0.72032	.|D	.|0.01	.|.	19.4814|19.4814	0.95011|0.95011	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|111;111	.|O95922-4;O95922	.|.;TTLL1_HUMAN	L|A	36|111	.|ENSP00000333734:P111A;ENSP00000266254:P111A	.|ENSP00000266254:P111A	F|P	-|-	3|1	2|0	TTLL1|TTLL1	41794532|41794532	1.000000|1.000000	0.71417|0.71417	0.435000|0.435000	0.26784|0.26784	0.641000|0.641000	0.38312|0.38312	9.369000|9.369000	0.97156|0.97156	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	TTC|CCA	TTLL1	-	pfam_Tub_tyr_ligase		0.552	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	G	NM_012263		43464588	-1	no_errors	ENST00000266254	ensembl	human	known	70_37	missense	SNP	0.999	C	C	43464588	G	C	43464588	3	2	26	1	0	0	0	0	1	0	0	0	16753	1174	41	1	968	1	TTLL1	22	43464588	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	116	43464588	7839978	159	4059										
CDKL5	6792	genome.wustl.edu	37	chrX	18622355	18622355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acaaagtacctcaagtcaaaCagcagatctcagcagaaccg	7	12	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:18622355C>T	ENST00000379989.3	+	13	1596	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	CDKL5_ENST00000379996.3_Silent_p.N437N|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	437					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCAAGTCAAACAGCAGATCTC	0.453																																																	0			GRCh37	CI083366	CDKL5	I							118	119	119					X																	18622355		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1311C>T	X.37:g.18622355C>T			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N437	ENST00000379989.3	37	c.1311	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.453	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	C	NM_003159		18622355	1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.999	T	T	18622355	C	T	18622355	2	4	26	1	0	0	0	0	0	0	0	1	3162	477	17	4		4	CDKL5	23	18622355	Silent	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08		18622355	136648205	160	4060										
PHKA2	5256	genome.wustl.edu	37	chrX	18924858	18924858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cacaccagccccagacctgcGtgaggacggcaatgctgatg	12	14	0	3			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:18924858G>A	ENST00000379942.4	-	24	3337	c.2672C>T	c.(2671-2673)aCg>aTg	p.T891M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	891					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T891M(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGACCTGCGTGAGGACGGC	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)											158	144	149					X																	18924858		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2672C>T	X.37:g.18924858G>A	ENSP00000369274:p.Thr891Met		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T891M	ENST00000379942.4	37	c.2672	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050634	0.75960	.	.	ENSG00000044446	ENST00000379942	D	0.90197	-2.63	4.95	4.95	0.65309	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97637	1.0146	10	0.87932	D	0	-13.1398	17.6171	0.88070	0.0:0.0:1.0:0.0	.	891	P46019	KPB2_HUMAN	M	891	ENSP00000369274:T891M	ENSP00000369274:T891M	T	-	2	0	PHKA2	18834779	1.000000	0.71417	0.985000	0.45067	0.422000	0.31414	9.708000	0.98727	2.176000	0.68965	0.513000	0.50165	ACG	PHKA2	-	pfam_Glyco_hydro_15		0.597	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	G	NM_000292		18924858	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18924858	G	A	18924858	3	1	26	1	0	0	0	0	1	0	0	0	11868	1145	40	2	1075	2	PHKA2	23	18924858	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	302503	18924858	136345702	161	4061										
GK	2710	genome.wustl.edu	37	chrX	30712558	30712558	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	agcacttacttcagtgcagtGaaacttcgttggctccttga	9	10	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:30712558G>C	ENST00000378943.3	+	6	635	c.456G>C	c.(454-456)gtG>gtC	p.V152V	GK_ENST00000378946.3_Silent_p.V152V|GK_ENST00000378945.3_Silent_p.V152V|GK_ENST00000427190.1_5'UTR	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	152					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						TCAGTGCAGTGAAACTTCGTT	0.388																																																	0													74	68	70					X																	30712558		2202	4298	6500	SO:0001819	synonymous_variant	2710			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.456G>C	X.37:g.30712558G>C			A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonstop_Mutation	SNP	pfam_Carb_kinase_FGGY_N	p.*91S	ENST00000378943.3	37	c.272	CCDS48090.1	X																																																																																			GK	-	NULL		0.388	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056170.1	G	NM_000167		30712558	1	no_errors	ENST00000471362	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	30712558	G	C	30712558	2	2	26	1	0	0	0	0	0	0	0	1	6439	1277	45	1		1	GK	23	30712558	Silent	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	11787700	30712558	124558002	162	4062										
ZNF157	7712	genome.wustl.edu	37	chrX	47272358	47272358	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ttacccaacaccacagaactCatacaggggagaaaccttat	6	12	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:47272358C>G	ENST00000377073.3	+	4	972	c.886C>G	c.(886-888)Cat>Gat	p.H296D		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	296					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCACAGAACTCATACAGGGGA	0.428																																																	0													42	43	43					X																	47272358		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.886C>G	X.37:g.47272358C>G	ENSP00000366273:p.His296Asp		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H296D	ENST00000377073.3	37	c.886	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966063	0.53507	.	.	ENSG00000147117	ENST00000377073	T	0.67698	-0.28	2.89	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81128	0.4758	H	0.95950	3.745	0.27262	N	0.958602	P	0.43392	0.805	P	0.50378	0.639	T	0.73745	-0.3886	9	0.87932	D	0	.	8.5058	0.33186	0.2321:0.7679:0.0:0.0	.	296	P51786	ZN157_HUMAN	D	296	ENSP00000366273:H296D	ENSP00000366273:H296D	H	+	1	0	ZNF157	47157302	1.000000	0.71417	0.927000	0.36925	0.986000	0.74619	5.160000	0.64929	0.609000	0.30018	0.600000	0.82982	CAT	ZNF157	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	C	NM_003446		47272358	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47272358	C	G	47272358	3	3	26	1	0	0	0	0	1	0	0	0	17767	826	29	1	900	1	ZNF157	23	47272358	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	16559800	47272358	107998202	163	4063										
SSX5	6758	genome.wustl.edu	37	chrX	48047122	48047122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	cataaatcaccagttgctttCtctcacgcactctgtgggtc	7	13	4	0			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:48047122C>A	ENST00000376923.1	-	6	511	c.512G>T	c.(511-513)aGa>aTa	p.R171I	SSX5_ENST00000311798.1_Missense_Mutation_p.R212I|SSX5_ENST00000347757.1_Missense_Mutation_p.R171I			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CAGTTGCTTTCTCTCACGCAC	0.502																																																	0													329	281	298					X																	48047122		2203	4299	6502	SO:0001583	missense	6758			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.512G>T	X.37:g.48047122C>A	ENSP00000366122:p.Arg171Ile		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R212I	ENST00000376923.1	37	c.635	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	N	12.79	2.043562	0.36085	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.45276	2.47;2.4;2.4;0.9	1.56	1.56	0.23342	SSXRD motif (1);	0.435447	0.19576	N	0.110967	T	0.54224	0.1845	L	0.61218	1.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	T	0.31194	-0.9952	10	0.87932	D	0	.	6.0734	0.19901	0.0:1.0:0.0:0.0	.	171;212	O60225;O60225-2	SSX5_HUMAN;.	I	212;171;171;111	ENSP00000312415:R212I;ENSP00000366122:R171I;ENSP00000290558:R171I;ENSP00000385051:R111I	ENSP00000312415:R212I	R	-	2	0	SSX5	47932066	0.085000	0.21516	0.003000	0.11579	0.073000	0.16967	1.074000	0.30703	1.081000	0.41110	0.181000	0.17075	AGA	SSX5	-	pfam_SSXRD_motif		0.502	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	C	NM_021015		48047122	-1	no_errors	ENST00000311798	ensembl	human	known	70_37	missense	SNP	0.003	A	A	48047122	C	A	48047122	3	1	26	1	0	0	0	0	1	0	0	0	15238	913	32	3	58	3	SSX5	23	48047122	Missense_Mutation	SNP	C	TCGA-C5-A1MN-01A-11D-A14W-08	774764	48047122	107223438	164	4064										
CLCN5	1184	genome.wustl.edu	37	chrX	49855455	49855455	+	Frame_Shift_Del	DEL	T	T	-													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acatcctcgatctcagccccTtcactgtgactgaccttaca							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:49855455delT	ENST00000307367.2	+	11	2353	c.2062delT	c.(2062-2064)ttcfs	p.F688fs	CLCN5_ENST00000376091.3_Frame_Shift_Del_p.F758fs|CLCN5_ENST00000376108.3_Frame_Shift_Del_p.F688fs|CLCN5_ENST00000376088.3_Frame_Shift_Del_p.F758fs			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	688	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCTCAGCCCCTTCACTGTGAC	0.493																																																	0													152	120	131					X																	49855455		2203	4300	6503	SO:0001589	frameshift_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2062delT	X.37:g.49855455delT	ENSP00000304257:p.Phe688fs		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Frame_Shift_Del	DEL	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.F758fs	ENST00000307367.2	37	c.2272	CCDS14328.1	X																																																																																			CLCN5	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.493	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	T			49855455	1	no_errors	ENST00000376088	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	49855455	T	-	49855455	7	5	26	1	0	1	0	1	0	0	0	0	3471	1609	56	0	2318	0	CLCN5	23	49855455	Frame_Shift_Del	DEL	T	TCGA-C5-A1MN-01A-11D-A14W-08	1808333	49855455	105415105	165	4065	21	2								
CLCN5	1184	genome.wustl.edu	37	chrX	49855456	49855456	+	Missense_Mutation	SNP	T	T	C													0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	catcctcgatctcagcccctTcactgtgactgaccttacac							TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:49855456T>C	ENST00000307367.2	+	11	2354	c.2063T>C	c.(2062-2064)tTc>tCc	p.F688S	CLCN5_ENST00000376091.3_Missense_Mutation_p.F758S|CLCN5_ENST00000376108.3_Missense_Mutation_p.F688S|CLCN5_ENST00000376088.3_Missense_Mutation_p.F758S			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	688	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTCAGCCCCTTCACTGTGACT	0.498																																																	0													150	119	129					X																	49855456		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2063T>C	X.37:g.49855456T>C	ENSP00000304257:p.Phe688Ser		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.F758S	ENST00000307367.2	37	c.2273	CCDS14328.1	X	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483548	0.84854	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.27	5.27	0.74061	Cystathionine beta-synthase, core (3);	0.043082	0.85682	D	0.000000	D	0.95974	0.8689	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.974;0.999	P;D	0.79108	0.763;0.992	D	0.96294	0.9216	10	0.72032	D	0.01	-0.3509	13.3953	0.60849	0.0:0.0:0.0:1.0	.	688;758	P51795;P51795-2	CLCN5_HUMAN;.	S	758;590;758;688;688	ENSP00000365256:F758S;ENSP00000365259:F758S;ENSP00000365276:F688S;ENSP00000304257:F688S	ENSP00000304257:F688S	F	+	2	0	CLCN5	49742196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.910000	0.87451	1.875000	0.54330	0.486000	0.48141	TTC	CLCN5	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.498	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	T			49855456	1	no_errors	ENST00000376088	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49855456	T	C	49855456	3	2	26	1	0	0	0	0	1	0	0	0	3471	1783	62	5	2319	5	CLCN5	23	49855456	Missense_Mutation	SNP	T	TCGA-C5-A1MN-01A-11D-A14W-08	1	49855456	105415104	166	4066	21	2								
AR	367	genome.wustl.edu	37	chrX	66765955	66765955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	acaccaaagggctagaaggcGagagcctaggctgctctggc	14	11	1	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:66765955G>A	ENST00000374690.3	+	1	1491	c.967G>A	c.(967-969)Gag>Aag	p.E323K	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.E323K|AR_ENST00000504326.1_Missense_Mutation_p.E323K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	321	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCTAGAAGGCGAGAGCCTAGG	0.572									Androgen Insensitivity Syndrome																																								0													41	32	35					X																	66765955		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.967G>A	X.37:g.66765955G>A	ENSP00000363822:p.Glu323Lys		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.E323K	ENST00000374690.3	37	c.967	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	15.06	2.721002	0.48728	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.99	4.11	0.48088	.	0.834308	0.10970	N	0.613888	D	0.97028	0.9029	M	0.91140	3.18	0.09310	N	1	P;P;P	0.44627	0.839;0.487;0.586	P;B;B	0.49421	0.61;0.228;0.126	D	0.91206	0.4995	10	0.38643	T	0.18	.	11.905	0.52705	0.0:0.1726:0.8274:0.0	.	323;323;321	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	K	133;323;323;323;315	ENSP00000363822:E323K;ENSP00000421155:E323K;ENSP00000379359:E323K	ENSP00000363822:E323K	E	+	1	0	AR	66682680	0.989000	0.36119	0.009000	0.14445	0.900000	0.52787	3.371000	0.52379	1.060000	0.40578	0.509000	0.49947	GAG	AR	-	pfam_Andrgn_rcpt		0.572	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66765955	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	0.061	A	A	66765955	G	A	66765955	3	1	26	1	0	0	0	0	1	0	0	0	836	1059	37	1	969	1	AR	23	66765955	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	16910499	66765955	88504605	167	4067										
ZNF711	7552	genome.wustl.edu	37	chrX	84525754	84525754	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	ggattcttaaaaagacacatGaagaatcatcctgatcattt	6	7	3	4			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:84525754G>A	ENST00000373165.3	+	9	1512	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	ZNF711_ENST00000276123.3_Missense_Mutation_p.M402I|ZNF711_ENST00000360700.4_Missense_Mutation_p.M448I|ZNF711_ENST00000395402.1_Missense_Mutation_p.M410I|ZNF711_ENST00000542798.1_Missense_Mutation_p.M244I	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	402					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAAGACACATGAAGAATCATC	0.363																																																	0													29	26	27					X																	84525754		2203	4297	6500	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1206G>A	X.37:g.84525754G>A	ENSP00000362260:p.Met402Ile		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M410I	ENST00000373165.3	37	c.1230	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777043	0.70107	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.52532	D	0.000063	T	0.57021	0.2025	N	0.21617	0.685	0.80722	D	1	P;D	0.53885	0.831;0.963	P;D	0.69824	0.758;0.966	T	0.59847	-0.7377	10	0.51188	T	0.08	-11.324	18.4486	0.90695	0.0:0.0:1.0:0.0	.	448;402	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	I	410;402;402;448;244	ENSP00000378798:M410I;ENSP00000362260:M402I;ENSP00000276123:M402I;ENSP00000353922:M448I;ENSP00000442071:M244I	ENSP00000276123:M402I	M	+	3	0	ZNF711	84412410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.298000	0.77334	0.513000	0.50165	ATG	ZNF711	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84525754	1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84525754	G	A	84525754	3	1	26	1	0	0	0	0	1	0	0	0	18146	1290	45	1	1232	1	ZNF711	23	84525754	Missense_Mutation	SNP	G	TCGA-C5-A1MN-01A-11D-A14W-08	17759799	84525754	70744806	168	4068										
GPR112	139378	genome.wustl.edu	37	chrX	135429208	135429208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.406060606060606	67	1.37922466385667e-21	3.55448107215447	5.2816169828365	2.87864528101803	0.0964109901806912	0.259774056875751	48	aaacaccatttcattcactgAgactctccactcctgtgaca	4	14	3	2			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:135429208A>G	ENST00000394143.1	+	6	3634	c.3343A>G	c.(3343-3345)Aga>Gga	p.R1115G	GPR112_ENST00000412101.1_Missense_Mutation_p.R910G|GPR112_ENST00000287534.4_Missense_Mutation_p.R1052G|GPR112_ENST00000370652.1_Missense_Mutation_p.R1115G|GPR112_ENST00000394141.1_Missense_Mutation_p.R910G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1115					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATTCACTGAGACTCTCCAC	0.478																																																	0													153	122	132					X																	135429208		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3343A>G	X.37:g.135429208A>G	ENSP00000377699:p.Arg1115Gly		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R1115G	ENST00000394143.1	37	c.3343	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275847	0.23307	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.44881	0.95;0.95;0.91;1.01;0.91	2.7	2.7	0.31948	.	.	.	.	.	T	0.27967	0.0689	L	0.29908	0.895	0.09310	N	1	B;B;B	0.32829	0.386;0.288;0.19	B;B;B	0.28139	0.086;0.081;0.037	T	0.18903	-1.0322	9	0.72032	D	0.01	.	6.9629	0.24608	1.0:0.0:0.0:0.0	.	1052;910;1115	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	G	1115;1115;910;1052;910	ENSP00000377699:R1115G;ENSP00000359686:R1115G;ENSP00000416526:R910G;ENSP00000287534:R1052G;ENSP00000377697:R910G	ENSP00000287534:R1052G	R	+	1	2	GPR112	135256874	0.979000	0.34478	0.009000	0.14445	0.008000	0.06430	2.433000	0.44793	1.059000	0.40554	0.356000	0.21956	AGA	GPR112	-	NULL		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135429208	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.040	G	G	135429208	A	G	135429208	3	3	26	1	0	0	0	0	1	0	0	0	6648	296	11	5	3353	5	GPR112	23	135429208	Missense_Mutation	SNP	A	TCGA-C5-A1MN-01A-11D-A14W-08	50903454	135429208	19841352	169	4069										
GPR153	387509	genome.wustl.edu	37	chr1	6314644	6314644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccagcagaccatccacatgcGgtggtaggagagggaggtga	16	9	0	3	rs147474319		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:6314644G>A	ENST00000377893.2	-	2	581	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R108C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ATCCACATGCGGTGGTAGGAG	0.542																																																	1	Substitution - Missense(1)	liver(1)						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	188	175	180		322	5.4	1	1	dbSNP_134	180	0,8600		0,0,4300	no	missense	GPR153	NM_207370.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	108/610	6314644	1,13005	2203	4300	6503	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.322C>T	1.37:g.6314644G>A	ENSP00000367125:p.Arg108Cys		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.R108C	ENST00000377893.2	37	c.322	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725371	0.89298	2.27E-4	0.0	ENSG00000158292	ENST00000377893	D	0.97186	-4.28	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98602	1.0659	10	0.87932	D	0	-47.7624	17.7842	0.88532	0.0:0.0:1.0:0.0	.	108	Q6NV75	GP153_HUMAN	C	108	ENSP00000367125:R108C	ENSP00000367125:R108C	R	-	1	0	GPR153	6237231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.534000	0.85438	0.557000	0.71058	CGC	GPR153	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6314644	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6314644	G	A	6314644	3	1	27	1	0	0	0	0	1	0	0	0	6678	1116	39	2	1527	2	GPR153	1	6314644	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08		6314644	242935977	1	4070										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144879063	144879063	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	cgaggctgatctcagctcctCagccagcttctcttctagtc	8	15	4	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:144879063C>T	ENST00000369354.3	-	27	4576	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1599K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1419K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1463K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1599K|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1463					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCAGCTCCTCAGCCAGCTTC	0.517			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													153	167	162					1																	144879063		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4387G>A	1.37:g.144879063C>T	ENSP00000358360:p.Glu1463Lys		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E1463K	ENST00000369354.3	37	c.4387	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767678	0.90020	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02236	4.38;4.5;4.51;4.52;4.53	5.97	5.97	0.96955	.	.	.	.	.	T	0.03348	0.0097	M	0.64997	1.995	0.80722	D	1	P;P	0.50066	0.868;0.931	P;B	0.46758	0.526;0.437	T	0.47071	-0.9145	9	0.59425	D	0.04	.	17.9074	0.88923	0.0:1.0:0.0:0.0	.	1419;1463	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1419;1463;1463;1599;1599	ENSP00000327209:E1419K;ENSP00000358360:E1463K;ENSP00000358363:E1463K;ENSP00000435654:E1599K;ENSP00000358366:E1599K	ENSP00000327209:E1419K	E	-	1	0	PDE4DIP	143590420	0.948000	0.32251	0.983000	0.44433	0.872000	0.50106	2.514000	0.45503	2.835000	0.97688	0.591000	0.81541	GAG	PDE4DIP	-	NULL		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144879063	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144879063	C	T	144879063	3	4	27	1	0	0	0	0	1	0	0	0	11667	835	29	1	2725	1	PDE4DIP	1	144879063	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	138564419	144879063	104371558	2	4071										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144879256	144879256	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	tccaaggtgccaacagctctCagcttccagggtctttccag	9	14	2	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:144879256C>A	ENST00000369354.3	-	27	4383	c.4194G>T	c.(4192-4194)ctG>ctT	p.L1398L	PDE4DIP_ENST00000369359.4_Silent_p.L1534L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L|PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000530740.1_Silent_p.L1534L|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1398					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACAGCTCTCAGCTTCCAGG	0.537			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													93	100	98					1																	144879256		2203	4300	6503	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4194G>T	1.37:g.144879256C>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L1398	ENST00000369354.3	37	c.4194	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144879256	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	1.000	A	A	144879256	C	A	144879256	2	1	27	1	0	0	0	0	0	0	0	1	11667	813	29	3		3	PDE4DIP	1	144879256	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	193	144879256	104371365	3	4072										
ECM1	1893	genome.wustl.edu	37	chr1	150482445	150482445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	cccctctccaacaggaaaagCtgctacctgcccaactccct	5	19	1	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:150482445C>T	ENST00000369047.4	+	4	396	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	ECM1_ENST00000346569.6_Silent_p.L91L|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.L118L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	91					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACAGGAAAAGCTGCTACCTGC	0.597																																					Melanoma(156;1696 2560 11093 19685)												0													87	86	86					1																	150482445		2203	4300	6503	SO:0001819	synonymous_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.271C>T	1.37:g.150482445C>T			A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.L118	ENST00000369047.4	37	c.352	CCDS953.1	1																																																																																			ECM1	-	pfam_ECM1		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	C	NM_004425		150482445	1	no_errors	ENST00000369049	ensembl	human	known	70_37	silent	SNP	0.014	T	T	150482445	C	T	150482445	2	4	27	1	0	0	0	0	0	0	0	1	4907	796	28	4		4	ECM1	1	150482445	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	5603189	150482445	98768176	4	4073										
CR2	1380	genome.wustl.edu	37	chr1	207644373	207644373	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gaagctacaggaaggcaactCttgacaaaaccccagcacca	8	13	1	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:207644373C>A	ENST00000367058.3	+	8	1623	c.1434C>A	c.(1432-1434)ctC>ctA	p.L478L	CR2_ENST00000367059.3_Silent_p.L478L|CR2_ENST00000458541.2_Silent_p.L478L|CR2_ENST00000367057.3_Silent_p.L478L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	478	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGGCAACTCTTGACAAAAC	0.418																																																	0													173	164	167					1																	207644373		2203	4300	6503	SO:0001819	synonymous_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1434C>A	1.37:g.207644373C>A			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L478	ENST00000367058.3	37	c.1434	CCDS1478.1	1																																																																																			CR2	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	C	NM_001877		207644373	1	no_errors	ENST00000367057	ensembl	human	known	70_37	silent	SNP	0.133	A	A	207644373	C	A	207644373	2	1	27	1	0	0	0	0	0	0	0	1	3847	900	32	3		3	CR2	1	207644373	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	57161928	207644373	41606248	5	4074										
CENPF	1063	genome.wustl.edu	37	chr1	214830629	214830629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	agaatggtagaggaccaacaCctgctaccccagagagcttt	10	11	0	3	rs566673745		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:214830629C>T	ENST00000366955.3	+	18	9007	c.8839C>T	c.(8839-8841)Cct>Tct	p.P2947S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3043	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGACCAACACCTGCTACCCC	0.463																																					Colon(80;575 1284 11000 14801 43496)												0													62	60	61					1																	214830629		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8839C>T	1.37:g.214830629C>T	ENSP00000355922:p.Pro2947Ser		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.P2947S	ENST00000366955.3	37	c.8839	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702346	0.15172	.	.	ENSG00000117724	ENST00000366955	T	0.03035	4.07	5.6	3.73	0.42828	.	0.216561	0.23539	N	0.047085	T	0.03564	0.0102	L	0.38838	1.175	0.09310	N	1	B	0.28350	0.208	B	0.23716	0.048	T	0.38112	-0.9676	10	0.87932	D	0	.	7.2816	0.26314	0.0:0.6355:0.0:0.3645	.	3043	P49454	CENPF_HUMAN	S	2947	ENSP00000355922:P2947S	ENSP00000355922:P2947S	P	+	1	0	CENPF	212897252	0.027000	0.19231	0.021000	0.16686	0.195000	0.23768	1.056000	0.30480	0.834000	0.34852	0.650000	0.86243	CCT	CENPF	-	NULL		0.463	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214830629	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.198	T	T	214830629	C	T	214830629	3	4	27	1	0	0	0	0	1	0	0	0	3236	507	18	4	8905	4	CENPF	1	214830629	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	7186256	214830629	34419992	6	4075										
USH2A	7399	genome.wustl.edu	37	chr1	216465554	216465554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	caatcatcacaaactcctccTccccctctgaagtgctcaaa	3	17	4	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:216465554T>C	ENST00000307340.3	-	10	2189	c.1803A>G	c.(1801-1803)ggA>ggG	p.G601G	USH2A_ENST00000366943.2_Silent_p.G601G|USH2A_ENST00000366942.3_Silent_p.G601G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	601	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTCCTCCTCCCCCTCTGA	0.423										HNSCC(13;0.011)																																							0													158	139	146					1																	216465554		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1803A>G	1.37:g.216465554T>C			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G601	ENST00000307340.3	37	c.1803	CCDS31025.1	1																																																																																			USH2A	-	pfam_EGF_laminin,smart_EGF_laminin		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216465554	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	0.477	C	C	216465554	T	C	216465554	2	2	27	1	0	0	0	0	0	0	0	1	17067	1538	54	5		5	USH2A	1	216465554	Silent	SNP	T	TCGA-C5-A1MP-01A-11D-A14W-08	1634925	216465554	32785067	7	4076										
RAB10	10890	genome.wustl.edu	37	chr2	26257498	26257498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	atggcgaagaagacgtacgaCctgcttttcaagctgctcct	10	11	1	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr2:26257498C>T	ENST00000264710.4	+	1	520	c.21C>T	c.(19-21)gaC>gaT	p.D7D		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	7					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACGTACGACCTGCTTTTCA	0.582																																																	0													85	81	82					2																	26257498		2203	4300	6503	SO:0001819	synonymous_variant	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.21C>T	2.37:g.26257498C>T			D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D7	ENST00000264710.4	37	c.21	CCDS1720.1	2																																																																																			RAB10	-	smart_Small_GTPase_ARF,smart_Small_GTPase_Ras		0.582	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	C	NM_016131		26257498	1	no_errors	ENST00000264710	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26257498	C	T	26257498	2	4	27	1	0	0	0	0	0	0	0	1	12920	506	18	4		4	RAB10	2	26257498	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		26257498	216941875	8	4077										
SNX17	9784	genome.wustl.edu	37	chr2	27599219	27599219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ggggtactctgagacgctcaGacagccagcaagcagtgaag	14	10	2	3			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr2:27599219G>A	ENST00000233575.2	+	13	1444	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	SNX17_ENST00000543024.1_Missense_Mutation_p.D194N|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.D383N|SNX17_ENST00000542478.1_Missense_Mutation_p.D194N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	408	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGACGCTCAGACAGCCAGCA	0.597																																																	0													69	74	73					2																	27599219		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1222G>A	2.37:g.27599219G>A	ENSP00000233575:p.Asp408Asn		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.D408N	ENST00000233575.2	37	c.1222	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194598	0.38806	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.36878	1.7;1.23;1.29;1.23	5.36	4.48	0.54585	.	0.124900	0.64402	N	0.000001	T	0.34135	0.0887	L	0.45581	1.43	0.80722	D	1	B;B;B;P	0.52842	0.331;0.107;0.007;0.956	B;B;B;B	0.44224	0.078;0.032;0.003;0.444	T	0.08680	-1.0710	10	0.34782	T	0.22	-17.6736	12.9348	0.58307	0.0783:0.0:0.9217:0.0	.	383;396;388;408	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	408;194;383;194	ENSP00000233575:D408N;ENSP00000441779:D194N;ENSP00000439208:D383N;ENSP00000442567:D194N	ENSP00000233575:D408N	D	+	1	0	SNX17	27452723	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.815000	0.91973	1.507000	0.48752	-0.258000	0.10820	GAC	SNX17	-	NULL		0.597	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	G	NM_014748		27599219	1	no_errors	ENST00000233575	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27599219	G	A	27599219	3	1	27	1	0	0	0	0	1	0	0	0	14918	942	33	1	1272	1	SNX17	2	27599219	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	1341721	27599219	215600154	9	4078										
BIRC6	57448	genome.wustl.edu	37	chr2	32666475	32666475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	tccggggctgtgatttacttCaagaggtctcagtcaccatt	10	10	3	2	rs370410054		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr2:32666475C>G	ENST00000421745.2	+	17	4023	c.3889C>G	c.(3889-3891)Caa>Gaa	p.Q1297E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1297					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGATTTACTTCAAGAGGTCTC	0.328																																					Pancreas(94;175 1509 16028 18060 45422)												0								C	GLU/GLN	0,4406		0,0,2203	54	58	56		3889	5.9	1	2		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	BIRC6	NM_016252.3	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	1297/4858	32666475	1,13005	2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3889C>G	2.37:g.32666475C>G	ENSP00000393596:p.Gln1297Glu		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.Q1297E	ENST00000421745.2	37	c.3889	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941602	0.92526	0.0	1.16E-4	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.74737	-0.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.81588	0.4854	L	0.40543	1.245	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.79095	-0.1944	10	0.42905	T	0.14	.	20.3886	0.98946	0.0:1.0:0.0:0.0	.	1297	Q9NR09	BIRC6_HUMAN	E	1297;183	ENSP00000393596:Q1297E	ENSP00000393596:Q1297E	Q	+	1	0	BIRC6	32519979	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.767000	0.85331	2.810000	0.96702	0.650000	0.86243	CAA	BIRC6	-	NULL		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32666475	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32666475	C	G	32666475	3	3	27	1	0	0	0	0	1	0	0	0	1439	827	29	1	3955	1	BIRC6	2	32666475	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	5067256	32666475	210532898	10	4079										
WDR6	11180	genome.wustl.edu	37	chr3	49051891	49051891	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	caccataagcgatgtgtcctCaaggtccactcctttacaca	6	14	1	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49051891C>G	ENST00000608424.1	+	4	2781	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	WDR6_ENST00000415265.2_Silent_p.L362L|WDR6_ENST00000448293.1_Silent_p.L863L|WDR6_ENST00000395474.3_Silent_p.L944L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	914					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GATGTGTCCTCAAGGTCCACT	0.597											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													100	97	98					3																	49051891		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2742C>G	3.37:g.49051891C>G		959	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L944	ENST00000608424.1	37	c.2832		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	C			49051891	1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49051891	C	G	49051891	2	3	27	1	0	0	0	0	0	0	0	1	17341	813	29	1		1	WDR6	3	49051891	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		49051891	148970539	11	4080			1	22		4	4	2997	C		1.037129e-08
DALRD3	55152	genome.wustl.edu	37	chr3	49053409	49053409	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ggttgtctatgcctcaccatCtctgtgcgtacagcaatgtg	10	11	3	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49053409C>T	ENST00000341949.4	-	10	1446	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Silent_p.E313E|DALRD3_ENST00000395462.4_Silent_p.E313E|DALRD3_ENST00000440857.1_Silent_p.E313E|DALRD3_ENST00000441576.2_Missense_Mutation_p.D472N	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	480					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCACCATCTCTGTGCGTA	0.547																																																	0													71	78	75					3																	49053409		2203	4300	6503	SO:0001819	synonymous_variant	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1440G>A	3.37:g.49053409C>T			Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	NULL	p.D472N	ENST00000341949.4	37	c.1414	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503110	0.64298	.	.	ENSG00000178149	ENST00000438585;ENST00000441576	T	0.51325	0.71	4.96	4.08	0.47627	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	B	0.33637	0.42	B	0.29077	0.098	T	0.08597	-1.0714	7	.	.	.	-27.1991	10.3771	0.44088	0.0:0.8441:0.0:0.1559	.	472	Q5D0E6-2	.	N	127;472	ENSP00000410623:D472N	.	D	-	1	0	DALRD3	49028413	0.111000	0.22076	0.976000	0.42696	0.725000	0.41563	0.157000	0.16402	1.317000	0.45149	0.556000	0.70494	GAT	DALRD3	-	NULL		0.547	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49053409	-1	no_errors	ENST00000441576	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49053409	C	T	49053409	2	4	27	1	0	0	0	0	0	0	0	1	4234	912	32	1		1	DALRD3	3	49053409	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	1518	49053409	148969021	12	4081			1	22		4	4	2997	C		1.037129e-08
DALRD3	55152	genome.wustl.edu	37	chr3	49054734	49054734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gttgctggaactcctcctcaCagctaacaacatgtacaacc	6	14	1	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49054734C>G	ENST00000341949.4	-	5	860	c.854G>C	c.(853-855)tGt>tCt	p.C285S	MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.C118S|DALRD3_ENST00000395462.4_Missense_Mutation_p.C118S|DALRD3_ENST00000440857.1_Missense_Mutation_p.C118S|DALRD3_ENST00000441576.2_Missense_Mutation_p.C285S	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	285					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCCTCCTCACAGCTAACAAC	0.498																																																	0													112	115	114					3																	49054734		2203	4300	6503	SO:0001583	missense	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.854G>C	3.37:g.49054734C>G	ENSP00000344989:p.Cys285Ser		Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.C285S	ENST00000341949.4	37	c.854	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	c	20.6	4.013758	0.75161	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.50277	0.82;0.88;0.88;0.8;0.88;0.75	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.66939	2.045	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;1.0;0.997	D;D;D;D	0.74023	0.982;0.959;0.982;0.91	T	0.57154	-0.7860	10	0.06099	T	0.92	-16.4938	11.3524	0.49596	0.0:0.9174:0.0:0.0826	.	285;118;285;285	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	S	285;285;118;118;118;250	ENSP00000410623:C285S;ENSP00000344989:C285S;ENSP00000378846:C118S;ENSP00000403770:C118S;ENSP00000323265:C118S;ENSP00000397385:C250S	ENSP00000323265:C118S	C	-	2	0	DALRD3	49029738	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.221000	0.51215	2.640000	0.89533	0.645000	0.84053	TGT	DALRD3	-	NULL		0.498	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49054734	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49054734	C	G	49054734	3	3	27	1	0	0	0	0	1	0	0	0	4234	478	17	4	809	4	DALRD3	3	49054734	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	1325	49054734	148967696	13	4082			1	22		4	4	2997	C		1.037129e-08
DALRD3	55152	genome.wustl.edu	37	chr3	49054887	49054887	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	caggcctgggtggctgtcctCgggccaatgccatagagcct	14	13	0	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49054887C>G	ENST00000341949.4	-	4	784	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.E93Q|DALRD3_ENST00000395462.4_Missense_Mutation_p.E93Q|DALRD3_ENST00000440857.1_Missense_Mutation_p.E93Q|DALRD3_ENST00000441576.2_Missense_Mutation_p.E260Q	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	260					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGCTGTCCTCGGGCCAATGC	0.527																																																	0													54	57	56					3																	49054887		2203	4300	6503	SO:0001583	missense	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.778G>C	3.37:g.49054887C>G	ENSP00000344989:p.Glu260Gln		Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.E260Q	ENST00000341949.4	37	c.778	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334432	0.24253	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.48522	0.84;0.87;0.86;0.81;0.86;0.89	5.12	-0.24	0.13047	.	1.258120	0.05248	N	0.513391	T	0.30386	0.0763	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.24368	0.102;0.102;0.102;0.028	B;B;B;B	0.18561	0.022;0.022;0.022;0.007	T	0.16129	-1.0413	10	0.19590	T	0.45	-1.8732	6.237	0.20768	0.0:0.5415:0.1292:0.3294	.	260;93;260;260	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	Q	260;260;93;93;93;225	ENSP00000410623:E260Q;ENSP00000344989:E260Q;ENSP00000378846:E93Q;ENSP00000403770:E93Q;ENSP00000323265:E93Q;ENSP00000397385:E225Q	ENSP00000323265:E93Q	E	-	1	0	DALRD3	49029891	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.454000	0.06770	0.033000	0.15463	-0.141000	0.14075	GAG	DALRD3	-	NULL		0.527	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49054887	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	missense	SNP	0.000	G	G	49054887	C	G	49054887	3	3	27	1	0	0	0	0	1	0	0	0	4234	893	31	1	889	1	DALRD3	3	49054887	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	153	49054887	148967543	14	4083			1	22		4	4	2997	C		1.037129e-08
CCDC71	64925	genome.wustl.edu	37	chr3	49201117	49201117	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	agggcctcaaggacaacagaGagccgcatggcagggtagac	15	10	1	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49201117G>A	ENST00000321895.6	-	2	631	c.525C>T	c.(523-525)ctC>ctT	p.L175L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	175										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGACAACAGAGAGCCGCATGG	0.587																																																	0													55	59	58					3																	49201117		2203	4300	6503	SO:0001819	synonymous_variant	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.525C>T	3.37:g.49201117G>A			Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	NULL	p.L175	ENST00000321895.6	37	c.525	CCDS2790.1	3																																																																																			CCDC71	-	NULL		0.587	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC71	HGNC	protein_coding	OTTHUMT00000345980.1	G	NM_022903		49201117	-1	no_errors	ENST00000321895	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49201117	G	A	49201117	2	1	27	1	0	0	0	0	0	0	0	1	2849	929	33	1		1	CCDC71	3	49201117	Silent	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	146230	49201117	148821313	15	4084										
TRIM42	287015	genome.wustl.edu	37	chr3	140401673	140401673	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	cgctcctccgggcccatcctCtgccaggtctgccgcaacaa	9	19	2	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:140401673C>T	ENST00000286349.3	+	2	902	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	237						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGCCCATCCTCTGCCAGGTCT	0.627																																																	0													73	72	72					3																	140401673		2203	4300	6503	SO:0001819	synonymous_variant	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.711C>T	3.37:g.140401673C>T			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L237	ENST00000286349.3	37	c.711	CCDS3113.1	3																																																																																			TRIM42	-	smart_Znf_B-box		0.627	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	C	NM_152616		140401673	1	no_errors	ENST00000286349	ensembl	human	known	70_37	silent	SNP	0.804	T	T	140401673	C	T	140401673	2	4	27	1	0	0	0	0	0	0	0	1	16548	900	32	1		1	TRIM42	3	140401673	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	91200556	140401673	57620757	16	4085										
OTOP1	133060	genome.wustl.edu	37	chr4	4190576	4190577	+	Missense_Mutation	DNP	CG	CG	GC													0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gggaggcagctgcgtgcattCgatagaaaatagaaaaaggc					rs200368405|rs199742451		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:4190576_4190577CG>GC	ENST00000296358.4	-	6	1816_1817	c.1792_1793CG>GC	c.(1792-1794)CGa>GCa	p.R598A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	598					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCGTGCATTCGATAGAAAATA	0.46																																																	0																																										SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1792_1793delinsGC	4.37:g.4190576_4190577delinsGC	ENSP00000296358:p.Arg598Ala		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.R598P|p.R598G	ENST00000296358.4	37	c.1793|c.1792	CCDS3372.1	4																																																																																			OTOP1	-	pfam_Otopetrin		0.46	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	C|G	NM_177998		4190576|4190577	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	1.000	G|C	GC	4190577	CG	GC	4190576	3	3	27	1	0	0	0	0	1	0	0	0	11329	884	31	1	49	1	OTOP1	4	4190576	Missense_Mutation	DNP	CG	TCGA-C5-A1MP-01A-11D-A14W-08		4190576	186963700	17	4086										
UGT2B15	7367	genome.wustl.edu	37	chr4	69433510	69433510	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ctataaaactggtcccacttCttcagatcatatgcttgaaa	5	10	3	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:69433510C>G	ENST00000317746.2	-	1	735	c.693G>C	c.(691-693)aaG>aaC	p.K231N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	231					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	GGTCCCACTTCTTCAGATCAT	0.323																																					Melanoma(18;649 833 28984 37818 38500)												0													92	99	97					4																	69433510		2092	3941	6033	SO:0001583	missense	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.693G>C	4.37:g.69433510C>G	ENSP00000320401:p.Lys231Asn			Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K231N	ENST00000317746.2	37	c.693	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	c	10.53	1.375594	0.24857	.	.	ENSG00000197888	ENST00000317746	T	0.61627	0.09	2.66	2.66	0.31614	.	0.624976	0.14042	U	0.345372	T	0.57446	0.2054	M	0.61703	1.905	0.23930	N	0.99643	.	.	.	.	.	.	T	0.51679	-0.8675	8	0.51188	T	0.08	.	5.5669	0.17175	0.0:0.8414:0.0:0.1586	.	.	.	.	N	231	ENSP00000320401:K231N	ENSP00000320401:K231N	K	-	3	2	UGT2B17	69116105	0.066000	0.20996	0.056000	0.19401	0.002000	0.02628	0.241000	0.18065	1.516000	0.48900	0.499000	0.49734	AAG	UGT2B17	-	pfam_UDP_glucos_trans		0.323	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	C	NM_001077		69433510	-1	no_errors	ENST00000317746	ensembl	human	known	70_37	missense	SNP	0.912	G	G	69433510	C	G	69433510	3	3	27	1	0	0	0	0	1	0	0	0	16989	912	32	1	923	1	UGT2B15	4	69433510	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	65242934	69433510	121720766	18	4087										
BBS12	166379	genome.wustl.edu	37	chr4	123665067	123665067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	caccaaagattgaggcgtggCgccgagcattggatttagta	13	8	0	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:123665067C>T	ENST00000314218.3	+	2	2213	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	BBS12_ENST00000542236.1_Missense_Mutation_p.R674C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	674			R -> C (in BBS12). {ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGAGGCGTGGCGCCGAGCATT	0.368									Bardet-Biedl syndrome																																								0													78	80	80					4																	123665067		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2020C>T	4.37:g.123665067C>T	ENSP00000319062:p.Arg674Cys		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R674C	ENST00000314218.3	37	c.2020	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849157	0.71603	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70045	-0.45;-0.45	5.91	5.91	0.95273	.	0.055375	0.64402	D	0.000001	T	0.81889	0.4918	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83123	-0.0117	10	0.87932	D	0	-31.3233	16.5383	0.84377	0.131:0.869:0.0:0.0	.	674	Q6ZW61	BBS12_HUMAN	C	674	ENSP00000319062:R674C;ENSP00000438273:R674C	ENSP00000319062:R674C	R	+	1	0	BBS12	123884517	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.199000	0.58426	2.793000	0.96121	0.655000	0.94253	CGC	BBS12	-	superfamily_Cpn60/TCP-1		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	C	NM_152618		123665067	1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123665067	C	T	123665067	3	4	27	1	0	0	0	0	1	0	0	0	1338	768	27	2	2022	2	BBS12	4	123665067	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	54231557	123665067	67489209	19	4088										
SNX25	83891	genome.wustl.edu	37	chr4	186180183	186180183	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gatgttgtgaggactttactCactcatttctgtgacctgaa	9	8	3	3			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:186180183C>T	ENST00000504273.1	+	3	498	c.204C>T	c.(202-204)ctC>ctT	p.L68L	SNX25_ENST00000264694.8_Silent_p.L68L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	68	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GGACTTTACTCACTCATTTCT	0.408																																																	0													112	100	104					4																	186180183		2203	4300	6503	SO:0001819	synonymous_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.204C>T	4.37:g.186180183C>T			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.L68	ENST00000504273.1	37	c.204	CCDS34116.1	4																																																																																			SNX25	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc		0.408	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	C	NM_031953		186180183	1	no_errors	ENST00000264694	ensembl	human	known	70_37	silent	SNP	1.000	T	T	186180183	C	T	186180183	2	4	27	1	0	0	0	0	0	0	0	1	14926	813	29	1		1	SNX25	4	186180183	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	62515116	186180183	4974093	20	4089										
CHD1	1105	genome.wustl.edu	37	chr5	98217695	98217695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccaccttgatggggcagaacCtgtatgtagtactgtcttcc	10	11	1	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr5:98217695C>A	ENST00000284049.3	-	19	3000	c.2851G>T	c.(2851-2853)Ggt>Tgt	p.G951C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	951					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGGGCAGAACCTGTATGTAGT	0.333																																																	0													131	125	127					5																	98217695		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2851G>T	5.37:g.98217695C>A	ENSP00000284049:p.Gly951Cys		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G951C	ENST00000284049.3	37	c.2851	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895453	0.72639	.	.	ENSG00000153922	ENST00000284049	D	0.95724	-3.79	4.88	4.88	0.63580	.	0.000000	0.34291	U	0.004084	D	0.97198	0.9084	M	0.76838	2.35	0.80722	D	1	D	0.61697	0.99	P	0.59889	0.865	D	0.97646	1.0151	10	0.62326	D	0.03	.	18.3808	0.90451	0.0:1.0:0.0:0.0	.	951	O14646	CHD1_HUMAN	C	951	ENSP00000284049:G951C	ENSP00000284049:G951C	G	-	1	0	CHD1	98245595	0.994000	0.37717	1.000000	0.80357	0.708000	0.40852	4.087000	0.57671	2.432000	0.82394	0.585000	0.79938	GGT	CHD1	-	NULL		0.333	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	C	NM_001270		98217695	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98217695	C	A	98217695	3	1	27	1	0	0	0	0	1	0	0	0	3328	681	24	4	2349	4	CHD1	5	98217695	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		98217695	82697565	21	4090										
KIF13A	63971	genome.wustl.edu	37	chr6	17850652	17850652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gttggtagcagctaccgttcGagacttatttccctcagaca	9	11	1	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:17850652G>C	ENST00000259711.6	-	8	724	c.619C>G	c.(619-621)Cga>Gga	p.R207G	KIF13A_ENST00000378843.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378826.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378816.5_Missense_Mutation_p.R207G|KIF13A_ENST00000378814.5_Missense_Mutation_p.R207G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	207	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R207G(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTACCGTTCGAGACTTATTT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											101	99	99					6																	17850652		1934	4122	6056	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.619C>G	6.37:g.17850652G>C	ENSP00000259711:p.Arg207Gly		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R207G	ENST00000259711.6	37	c.619	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988485	0.93106	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.78	5.78	0.91487	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	H	0.99626	4.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97614	1.0131	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	207;207;207;207	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	G	207	ENSP00000368091:R207G;ENSP00000259711:R207G;ENSP00000368103:R207G;ENSP00000368120:R207G;ENSP00000368093:R207G	ENSP00000259711:R207G	R	-	1	2	KIF13A	17958631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.238000	0.72350	2.724000	0.93272	0.563000	0.77884	CGA	KIF13A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17850652	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17850652	G	C	17850652	3	2	27	1	0	0	0	0	1	0	0	0	8294	1066	37	1	4951	1	KIF13A	6	17850652	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08		17850652	153264415	22	4091										
KCNK16	83795	genome.wustl.edu	37	chr6	39286797	39286797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	tctaccccagccctttacctAtggtagtgacgactgtgcct	8	14	1	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:39286797A>G	ENST00000373229.5	-	2	339	c.326T>C	c.(325-327)aTa>aCa	p.I109T	KCNK16_ENST00000425054.2_Missense_Mutation_p.I109T|KCNK16_ENST00000507712.1_Missense_Mutation_p.I44T|KCNK16_ENST00000437525.2_Missense_Mutation_p.I109T|KCNK16_ENST00000373227.4_Missense_Mutation_p.I109T	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	109					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTTTACCTATGGTAGTGAC	0.532																																																	0													78	80	80					6																	39286797		2203	4300	6503	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.326T>C	6.37:g.39286797A>G	ENSP00000362326:p.Ile109Thr		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.I109T	ENST00000373229.5	37	c.326	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197336	0.79015	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.6	5.6	0.85130	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.87578	0.971;0.996;0.957;0.998	T	0.62882	-0.6760	10	0.59425	D	0.04	.	15.4523	0.75282	1.0:0.0:0.0:0.0	.	109;109;109;109	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	T	109;109;44;109;109	ENSP00000362326:I109T;ENSP00000391498:I109T;ENSP00000423842:I44T;ENSP00000362324:I109T;ENSP00000415375:I109T	ENSP00000362324:I109T	I	-	2	0	KCNK16	39394775	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.644000	0.74338	2.128000	0.65567	0.459000	0.35465	ATA	KCNK16	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl		0.532	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	A	NM_032115		39286797	-1	no_errors	ENST00000425054	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39286797	A	G	39286797	3	3	27	1	0	0	0	0	1	0	0	0	8083	449	16	5	1008	5	KCNK16	6	39286797	Missense_Mutation	SNP	A	TCGA-C5-A1MP-01A-11D-A14W-08	21436145	39286797	131828270	23	4092										
RHAG	6005	genome.wustl.edu	37	chr6	49582479	49582479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	aggcagcgagagagaagtacGtgtttacaatggccctgcac	13	9	0	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:49582479G>A	ENST00000371175.4	-	5	754	c.728C>T	c.(727-729)aCg>aTg	p.T243M	RHAG_ENST00000229810.7_Missense_Mutation_p.T243M	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	243					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGAGAAGTACGTGTTTACAAT	0.537																																					Ovarian(176;476 2003 7720 43408 44749)												0													222	190	201					6																	49582479		2203	4300	6503	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.728C>T	6.37:g.49582479G>A	ENSP00000360217:p.Thr243Met		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.T243M	ENST00000371175.4	37	c.728	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014896	0.54468	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.54866	0.55;0.55	5.76	4.9	0.64082	Ammonium transporter AmtB-like (3);	0.042408	0.85682	D	0.000000	T	0.77391	0.4123	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85724	0.1327	10	0.87932	D	0	-21.9625	14.0024	0.64442	0.0724:0.0:0.9276:0.0	.	243;243;243	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	M	243	ENSP00000360217:T243M;ENSP00000229810:T243M	ENSP00000229810:T243M	T	-	2	0	RHAG	49690438	1.000000	0.71417	0.701000	0.30321	0.092000	0.18411	9.869000	0.99810	1.446000	0.47643	0.655000	0.94253	ACG	RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.537	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	G			49582479	-1	no_errors	ENST00000371175	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49582479	G	A	49582479	3	1	27	1	0	0	0	0	1	0	0	0	13345	1145	40	2	525	2	RHAG	6	49582479	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	10295682	49582479	121532588	24	4093										
ROS1	6098	genome.wustl.edu	37	chr6	117662663	117662663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gaggagtttcaggaattaggGccaggtgtgagattgccaac	15	6	1	1	rs45439298	byFrequency	TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:117662663G>A	ENST00000368508.3	-	29	5000	c.4802C>T	c.(4801-4803)gCc>gTc	p.A1601V	ROS1_ENST00000368507.3_Missense_Mutation_p.A1595V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1601	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAATTAGGGCCAGGTGTGA	0.428			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													184	166	172					6																	117662663		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4802C>T	6.37:g.117662663G>A	ENSP00000357494:p.Ala1601Val		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A1601V	ENST00000368508.3	37	c.4802	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	9.147	1.015356	0.19355	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54279	0.58;0.58	5.11	3.27	0.37495	.	0.686338	0.13791	N	0.362508	T	0.17746	0.0426	N	0.24115	0.695	0.09310	N	0.999998	B	0.27498	0.18	B	0.23574	0.047	T	0.15009	-1.0452	10	0.27082	T	0.32	.	11.769	0.51947	0.0:0.3431:0.6569:0.0	.	1601	P08922	ROS1_HUMAN	V	1601;1595	ENSP00000357494:A1601V;ENSP00000357493:A1595V	ENSP00000357493:A1595V	A	-	2	0	ROS1	117769356	0.023000	0.18921	0.078000	0.20375	0.558000	0.35554	2.063000	0.41423	0.526000	0.28541	0.655000	0.94253	GCC	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117662663	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	0.027	A	A	117662663	G	A	117662663	3	1	27	1	0	0	0	0	1	0	0	0	13561	1203	42	4	2301	4	ROS1	6	117662663	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	68080184	117662663	53452404	25	4094										
SYNE1	23345	genome.wustl.edu	37	chr6	152655170	152655170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	agttatcccattctgtagtaAatttttctaggaacacttca	5	8	3	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:152655170A>C	ENST00000367255.5	-	77	13368	c.12767T>G	c.(12766-12768)tTt>tGt	p.F4256C	SYNE1_ENST00000423061.1_Missense_Mutation_p.F4185C|SYNE1_ENST00000448038.1_Missense_Mutation_p.F4185C|SYNE1_ENST00000265368.4_Missense_Mutation_p.F4256C|SYNE1_ENST00000341594.5_Missense_Mutation_p.F4121C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4256					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGTAGTAAATTTTTCTAG	0.368										HNSCC(10;0.0054)																																							0													134	137	136					6																	152655170		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12767T>G	6.37:g.152655170A>C	ENSP00000356224:p.Phe4256Cys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.F4256C	ENST00000367255.5	37	c.12767	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588702	0.66105	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.71	5.71	0.89125	.	0.096156	0.46442	D	0.000300	T	0.37625	0.1010	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.56287	0.975;0.958;0.958;0.975	P;P;P;P	0.55615	0.78;0.608;0.608;0.78	T	0.08973	-1.0696	10	0.38643	T	0.18	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	4256;4256;4256;4185	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	4256;4185;4256;4185;4121	ENSP00000356224:F4256C;ENSP00000396024:F4185C;ENSP00000265368:F4256C;ENSP00000390975:F4185C;ENSP00000341887:F4121C	ENSP00000265368:F4256C	F	-	2	0	SYNE1	152696863	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	A	NM_182961		152655170	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152655170	A	C	152655170	3	2	27	1	0	0	0	0	1	0	0	0	15475	14	1	5	13979	5	SYNE1	6	152655170	Missense_Mutation	SNP	A	TCGA-C5-A1MP-01A-11D-A14W-08	34992507	152655170	18459897	26	4095										
ZER1	10444	genome.wustl.edu	37	chr9	131513487	131513487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccgcgaggtgatctcaggccGgtgctccgtgtaggcctcga	15	13	1	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr9:131513487G>A	ENST00000291900.2	-	7	1505	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	snoU13_ENST00000459043.1_RNA|ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	367					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATCTCAGGCCGGTGCTCCGTG	0.602																																																	0													91	75	80					9																	131513487		2203	4300	6503	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1099C>T	9.37:g.131513487G>A	ENSP00000291900:p.Arg367Trp		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.R367W	ENST00000291900.2	37	c.1099	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808407	0.70797	.	.	ENSG00000160445	ENST00000291900	T	0.07114	3.22	5.24	3.33	0.38152	Armadillo-type fold (1);	0.123816	0.56097	D	0.000028	T	0.28532	0.0706	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.04294	-1.0962	10	0.87932	D	0	-33.1705	15.6159	0.76767	0.0:0.0:0.842:0.158	.	367	Q7Z7L7	ZER1_HUMAN	W	367	ENSP00000291900:R367W	ENSP00000291900:R367W	R	-	1	2	ZER1	130553308	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	2.872000	0.48467	0.550000	0.28991	0.306000	0.20318	CGG	ZER1	-	superfamily_ARM-type_fold		0.602	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	G	NM_006336		131513487	-1	no_errors	ENST00000291900	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131513487	G	A	131513487	3	1	27	1	0	0	0	0	1	0	0	0	17655	1115	39	2	1241	2	ZER1	9	131513487	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08		131513487	9699944	27	4096										
SAPS3	55291	genome.wustl.edu	37	chr11	68312347	68312347	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	gttgctcacttctgatgtctCccagatgaatgatagactgg	10	9	3	5			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr11:68312347C>G	ENST00000393800.2	+	4	523	c.269C>G	c.(268-270)tCc>tGc	p.S90C	PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S90C|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S90C|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S90C|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S90C|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S90C|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S90C|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S90C|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S90C	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	90					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGATGTCTCCCAGATGAAT	0.348																																																	0													97	94	95					11																	68312347		2200	4294	6494	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.269C>G	11.37:g.68312347C>G	ENSP00000377389:p.Ser90Cys		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S90C	ENST00000393800.2	37	c.269	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	18.46	3.627785	0.66901	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.31;-0.31;-0.33	4.97	4.97	0.65823	.	0.366696	0.34700	N	0.003742	T	0.77870	0.4195	M	0.67953	2.075	0.39464	D	0.967619	P;P;D;P;P;P	0.54047	0.746;0.862;0.964;0.94;0.931;0.86	P;P;P;P;P;P	0.58013	0.641;0.649;0.831;0.682;0.616;0.48	T	0.78740	-0.2086	10	0.44086	T	0.13	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	90;90;90;90;90;90	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	C	90	ENSP00000377388:S90C;ENSP00000377389:S90C;ENSP00000431415:S90C;ENSP00000265637:S90C;ENSP00000433058:S90C;ENSP00000377390:S90C;ENSP00000265636:S90C;ENSP00000437329:S90C;ENSP00000433565:S90C	ENSP00000265636:S90C	S	+	2	0	PPP6R3	68068923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.985000	0.56930	2.612000	0.88384	0.485000	0.47835	TCC	PPP6R3	-	NULL		0.348	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	C	NM_018312		68312347	1	no_errors	ENST00000393799	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68312347	C	G	68312347	3	3	27	1	0	0	0	0	1	0	0	0	13868	855	30	1	275	1	SAPS3	11	68312347	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		68312347	66694169	28	4097										
SAPS3	55291	genome.wustl.edu	37	chr11	68312450	68312450	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccactacttgccagtttcttCagcaaggtgctaagtattct	7	11	3	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr11:68312450C>T	ENST00000393800.2	+	4	626	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PPP6R3_ENST00000534534.1_Silent_p.F33F|PPP6R3_ENST00000524904.1_Silent_p.F124F|PPP6R3_ENST00000265636.5_Silent_p.F124F|PPP6R3_ENST00000265637.4_Silent_p.F124F|PPP6R3_ENST00000393799.2_Silent_p.F124F|PPP6R3_ENST00000393801.3_Silent_p.F124F|PPP6R3_ENST00000529710.1_Silent_p.F124F|PPP6R3_ENST00000527403.2_Silent_p.F124F|PPP6R3_ENST00000524845.1_Silent_p.F124F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	124					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCAGTTTCTTCAGCAAGGTGC	0.393																																																	0													100	100	100					11																	68312450		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.372C>T	11.37:g.68312450C>T			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.F124	ENST00000393800.2	37	c.372	CCDS53672.1	11																																																																																			PPP6R3	-	superfamily_ARM-type_fold		0.393	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	C	NM_018312		68312450	1	no_errors	ENST00000393799	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68312450	C	T	68312450	2	4	27	1	0	0	0	0	0	0	0	1	13868	825	29	1		1	SAPS3	11	68312450	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	103	68312450	66694066	29	4098										
PRB2	653247	genome.wustl.edu	37	chr12	11547437	11547437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	atcgggatttacctgctattAgggagggagattcttcctgg	13	7	1	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr12:11547437A>G	ENST00000389362.4	-	2	127	c.92T>C	c.(91-93)cTa>cCa	p.L31P	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Missense_Mutation_p.L31P	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	31						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTGCTATTAGGGAGGGAGA	0.418																																																	0													182	178	180					12																	11547437		2203	4300	6503	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.92T>C	12.37:g.11547437A>G	ENSP00000374013:p.Leu31Pro		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.L31P	ENST00000389362.4	37	c.92	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	3.500	-0.102073	0.06967	.	.	ENSG00000251655;ENSG00000121335	ENST00000546254;ENST00000389362	T;T	0.05025	3.51;3.51	1.06	-2.12	0.07165	.	.	.	.	.	T	0.05090	0.0136	L	0.36672	1.1	0.09310	N	1	D	0.58268	0.982	P	0.44422	0.449	T	0.24048	-1.0171	9	0.51188	T	0.08	.	2.1797	0.03871	0.4316:0.3245:0.2439:0.0	.	31	P02812	PRB2_HUMAN	P	31	ENSP00000442127:L31P;ENSP00000374013:L31P	ENSP00000442127:L31P	L	-	2	0	PRB2;PRB1	11438704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	-0.652000	0.05408	-0.404000	0.06349	CTA	PRB2	-	NULL		0.418	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	A	NM_006248		11547437	-1	no_errors	ENST00000389362	ensembl	human	known	70_37	missense	SNP	0.000	G	G	11547437	A	G	11547437	3	3	27	1	0	0	0	0	1	0	0	0	12470	420	15	5	1166	5	PRB2	12	11547437	Missense_Mutation	SNP	A	TCGA-C5-A1MP-01A-11D-A14W-08		11547437	122304458	30	4099										
DNAJC14	85406	genome.wustl.edu	37	chr12	56221839	56221839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccgagtatcctccttcgttgGaaagcggtgccgctgtctcc	11	14	1	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr12:56221839G>A	ENST00000357606.3	-	3	893	c.604C>T	c.(604-606)Cca>Tca	p.P202S	RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P202S|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P202S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	202					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCTTCGTTGGAAAGCGGTGC	0.552																																																	0													55	53	54					12																	56221839		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.604C>T	12.37:g.56221839G>A	ENSP00000350223:p.Pro202Ser		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.P202S	ENST00000357606.3	37	c.604	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	G	4.315	0.057728	0.08339	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	T;T;T	0.28895	1.59;1.59;1.59	5.2	1.05	0.20165	.	0.739921	0.12301	N	0.481130	T	0.16385	0.0394	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25710	-1.0124	9	.	.	.	2.8759	6.4659	0.21981	0.1681:0.2859:0.546:0.0	.	202;202	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	S	202	ENSP00000350223:P202S;ENSP00000316240:P202S;ENSP00000317500:P202S	.	P	-	1	0	DNAJC14	54508106	0.005000	0.15991	0.016000	0.15963	0.629000	0.37895	0.026000	0.13599	0.684000	0.31448	0.650000	0.86243	CCA	DNAJC14	-	NULL		0.552	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56221839	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	0.006	A	A	56221839	G	A	56221839	3	1	27	1	0	0	0	0	1	0	0	0	4643	1174	41	1	1528	1	DNAJC14	12	56221839	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	44674402	56221839	77630056	31	4100										
TGFB3	7043	genome.wustl.edu	37	chr14	76438001	76438001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	tggttctatttttctccactGaggacacattgaagcggaaa	9	8	2	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr14:76438001G>A	ENST00000238682.3	-	2	710	c.413C>T	c.(412-414)tCa>tTa	p.S138L	TGFB3_ENST00000556285.1_Missense_Mutation_p.S138L|RP11-270M14.5_ENST00000553732.1_lincRNA	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	138					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTTCTCCACTGAGGACACATT	0.522																																																	0													65	61	62					14																	76438001		2203	4300	6503	SO:0001583	missense	7043				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"Endogenous ligands"	11769	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-3"	190230	"arrhythmogenic right ventricular dysplasia 1"	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.413C>T	14.37:g.76438001G>A	ENSP00000238682:p.Ser138Leu		Q8WV88	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.S138L	ENST00000238682.3	37	c.413	CCDS9846.1	14	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394995	0.62066	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.69040	-0.37;-0.37	5.7	5.7	0.88788	Transforming growth factor-beta, N-terminal (1);	0.205096	0.43260	D	0.000589	T	0.65186	0.2667	L	0.55481	1.735	0.42771	D	0.993837	B	0.32467	0.372	B	0.32762	0.152	T	0.65825	-0.6074	10	0.51188	T	0.08	-9.492	18.0149	0.89236	0.0:0.0:1.0:0.0	.	138	P10600	TGFB3_HUMAN	L	138	ENSP00000238682:S138L;ENSP00000451110:S138L	ENSP00000238682:S138L	S	-	2	0	TGFB3	75507754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.357000	0.52277	2.696000	0.92011	0.561000	0.74099	TCA	TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3		0.522	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	G	NM_003239		76438001	-1	no_errors	ENST00000238682	ensembl	human	known	70_37	missense	SNP	0.999	A	A	76438001	G	A	76438001	3	1	27	1	0	0	0	0	1	0	0	0	15849	1294	45	1	849	1	TGFB3	14	76438001	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08		76438001	30911539	32	4101										
CATSPERB	79820	genome.wustl.edu	37	chr14	92102780	92102780	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	tatcactacccagagtgtatCacttttccatagtgtatatt	5	9	2	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr14:92102780C>G	ENST00000256343.3	-	17	1887	c.1731G>C	c.(1729-1731)gtG>gtC	p.V577V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	577					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CAGAGTGTATCACTTTTCCAT	0.368																																																	0													166	152	156					14																	92102780		2203	4300	6503	SO:0001819	synonymous_variant	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1731G>C	14.37:g.92102780C>G			A0AV51	Silent	SNP	superfamily_Neuraminidase	p.V577	ENST00000256343.3	37	c.1731	CCDS32142.1	14																																																																																			CATSPERB	-	NULL		0.368	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92102780	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	silent	SNP	0.000	G	G	92102780	C	G	92102780	2	3	27	1	0	0	0	0	0	0	0	1	2696	813	29	1		1	CATSPERB	14	92102780	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	15664779	92102780	15246760	33	4102										
SRCAP	10847	genome.wustl.edu	37	chr16	30749702	30749702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccagcaccctagtgcctgggGtctctgagactagtgccagc	12	14	1	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr16:30749702G>A	ENST00000262518.4	+	34	8726	c.8341G>A	c.(8341-8343)Gtc>Atc	p.V2781I	SRCAP_ENST00000344771.4_Missense_Mutation_p.V2623I|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.V2719I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2781	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCTGGGGTCTCTGAGAC	0.647																																																	0													49	55	53					16																	30749702		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8341G>A	16.37:g.30749702G>A	ENSP00000262518:p.Val2781Ile		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.V2781I	ENST00000262518.4	37	c.8341	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	9.575	1.121928	0.20877	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92099	-2.93;-2.97;-2.96	4.84	4.84	0.62591	.	0.166220	0.28453	N	0.015283	T	0.81740	0.4886	N	0.08118	0	0.21020	N	0.999804	B;B	0.25809	0.135;0.034	B;B	0.21917	0.037;0.016	T	0.72981	-0.4126	10	0.56958	D	0.05	-4.1623	8.9787	0.35953	0.0987:0.0:0.9013:0.0	.	2719;2781	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	I	2781;2719;2623	ENSP00000262518:V2781I;ENSP00000378499:V2719I;ENSP00000343042:V2623I	ENSP00000262518:V2781I	V	+	1	0	SRCAP	30657203	0.998000	0.40836	0.998000	0.56505	0.965000	0.64279	1.308000	0.33528	2.522000	0.85027	0.591000	0.81541	GTC	SRCAP	-	NULL		0.647	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30749702	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.999	A	A	30749702	G	A	30749702	3	1	27	1	0	0	0	0	1	0	0	0	15165	1261	44	4	8467	4	SRCAP	16	30749702	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08		30749702	59605051	34	4103										
GLG1	2734	genome.wustl.edu	37	chr16	74528657	74528657	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	tagtttcaaaataatacttaCcttttcactcatggattctt	3	8	4	0			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr16:74528657C>A	ENST00000422840.2	-	6	1050		c.e6+1		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATAATACTTACCTTTTCACTC	0.373																																																	0													78	77	78					16																	74528657		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1050+1G>T	16.37:g.74528657C>A			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	-	e6+1	ENST00000422840.2	37	c.1050+1	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.103468	0.94245	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73086158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.215000	0.77966	2.820000	0.97059	0.650000	0.86243	.	GLG1	-	-		0.373	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201	Intron	74528657	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	74528657	C	A	74528657	5	1	27	1	0	0	0	0	0	0	1	0	6455	521	18	4	2652	4	GLG1	16	74528657	Splice_Site	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08	43778955	74528657	15826096	35	4104										
SLC47A1	55244	genome.wustl.edu	37	chr17	19451432	19451432	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ctgctgctcttcaggcaggaCccagatgtgtccaggtaaga	12	11	2	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr17:19451432C>G	ENST00000270570.4	+	4	527	c.441C>G	c.(439-441)gaC>gaG	p.D147E	SLC47A1_ENST00000436810.2_Missense_Mutation_p.D124E|SLC47A1_ENST00000457293.1_Missense_Mutation_p.D147E|SLC47A1_ENST00000542886.1_Missense_Mutation_p.D147E|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.D147E|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.D147E	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	147					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCAGGCAGGACCCAGATGTGT	0.607																																																	0													95	78	84					17																	19451432		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.441C>G	17.37:g.19451432C>G	ENSP00000270570:p.Asp147Glu		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.D147E	ENST00000270570.4	37	c.441	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570345	0.45798	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.14	3.95	0.45737	.	0.146938	0.64402	D	0.000011	T	0.35624	0.0938	L	0.41356	1.27	0.35179	D	0.772263	P;P;P;P	0.49696	0.655;0.927;0.725;0.678	P;P;P;P	0.51777	0.679;0.679;0.557;0.55	T	0.47129	-0.9141	10	0.46703	T	0.11	-10.6464	13.6136	0.62094	0.0:0.91:0.0:0.09	.	124;147;147;147	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	E	124;147;147;147;147	ENSP00000407155:D124E;ENSP00000270570:D147E;ENSP00000415586:D147E;ENSP00000440435:D147E;ENSP00000378951:D147E	ENSP00000270570:D147E	D	+	3	2	SLC47A1	19392024	0.937000	0.31787	1.000000	0.80357	0.520000	0.34377	0.038000	0.13862	2.398000	0.81561	0.462000	0.41574	GAC	SLC47A1	-	pfam_MATE,tigrfam_MATE		0.607	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	C	NM_018242		19451432	1	no_errors	ENST00000395585	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19451432	C	G	19451432	3	3	27	1	0	0	0	0	1	0	0	0	14677	506	18	4	455	4	SLC47A1	17	19451432	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		19451432	61743778	36	4105										
UBA52	7311	genome.wustl.edu	37	chr19	18684538	18684538	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ggaggatggccgcactctctCagactacaacatccagaaag	10	12	2	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr19:18684538C>T	ENST00000442744.2	+	3	228	c.170C>T	c.(169-171)tCa>tTa	p.S57L	UBA52_ENST00000430157.2_Missense_Mutation_p.S57L|UBA52_ENST00000596273.1_Missense_Mutation_p.S57L|UBA52_ENST00000598780.1_Missense_Mutation_p.S57L|UBA52_ENST00000595683.1_Missense_Mutation_p.S57L|UBA52_ENST00000595158.1_Missense_Mutation_p.S57L|UBA52_ENST00000599595.1_Missense_Mutation_p.S57L|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596304.1_Missense_Mutation_p.S57L|UBA52_ENST00000599551.1_Missense_Mutation_p.S57L|UBA52_ENST00000597451.1_Missense_Mutation_p.S57L	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CGCACTCTCTCAGACTACAAC	0.592																																																	0													50	48	49					19																	18684538		2203	4300	6503	SO:0001583	missense	7311				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"L ribosomal proteins"	12458	protein-coding gene	gene with protein product	"ribosomal protein L40", "ubiquitin-52 amino acid fusion protein", "ubiquitin carboxyl extension protein 52", "60S ribosomal protein L40", "ubiquitin-CEP52"	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.170C>T	19.37:g.18684538C>T	ENSP00000388107:p.Ser57Leu		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Ribosomal_L40e,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.S57L	ENST00000442744.2	37	c.170	CCDS12382.1	19	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435925	0.83885	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.74526	-0.85;-0.85	4.81	4.81	0.61882	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.74389	2.26	0.80722	D	1	P	0.38300	0.626	B	0.39465	0.3	T	0.80786	-0.1227	10	0.87932	D	0	-12.3763	15.3581	0.74443	0.0:1.0:0.0:0.0	.	57	P62987	RL40_HUMAN	L	57	ENSP00000388107:S57L;ENSP00000396910:S57L	ENSP00000396910:S57L	S	+	2	0	UBA52	18545538	1.000000	0.71417	0.919000	0.36401	0.406000	0.30931	7.663000	0.83820	2.220000	0.72140	0.462000	0.41574	TCA	UBA52	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.592	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA52	HGNC	protein_coding	OTTHUMT00000465117.2	C	NM_003333		18684538	1	no_errors	ENST00000430157	ensembl	human	known	70_37	missense	SNP	0.999	T	T	18684538	C	T	18684538	3	4	27	1	0	0	0	0	1	0	0	0	16862	838	29	1	176	1	UBA52	19	18684538	Missense_Mutation	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		18684538	40444445	37	4106										
ZNF578	147660	genome.wustl.edu	37	chr19	53014316	53014316	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	aacaggaagtacacatgagaGaaaaatctttccaatgtaat	7	6	1	2			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr19:53014316G>C	ENST00000421239.2	+	6	926	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACACATGAGAGAAAAATCTTT	0.318																																																	0													67	69	68					19																	53014316		2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.682G>C	19.37:g.53014316G>C	ENSP00000459216:p.Glu228Gln		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E228Q	ENST00000421239.2	37	c.682	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	13.77	2.336095	0.41398	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.54870	0.1885	M	0.74546	2.27	0.09310	N	1	D	0.63880	0.993	D	0.71656	0.974	T	0.48581	-0.9023	7	.	.	.	.	4.7493	0.13052	0.2133:0.1821:0.6046:0.0	.	228	G3V4F6	.	Q	228	.	.	E	+	1	0	ZNF578	57706128	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	0.006000	0.13152	-1.188000	0.02705	-0.750000	0.03501	GAA	ZNF578	-	NULL		0.318	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	G	NM_152472		53014316	1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.066	C	C	53014316	G	C	53014316	3	2	27	1	0	0	0	0	1	0	0	0	18040	943	33	1	692	1	ZNF578	19	53014316	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	34329778	53014316	6114667	38	4107										
PCDH11X	27328	genome.wustl.edu	37	chrX	91132649	91132649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	ccagttttcacccagtctttCgtaactgtttctattcctga	5	12	3	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)												0													63	57	59					X																	91132649		2203	4298	6501	SO:0001819	synonymous_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1410C>T	X.37:g.91132649C>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F470	ENST00000373094.1	37	c.1410	CCDS14461.1	X																																																																																			PCDH11X	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91132649	1	no_errors	ENST00000373094	ensembl	human	known	70_37	silent	SNP	0.076	T	T	91132649	C	T	91132649	2	4	27	1	0	0	0	0	0	0	0	1	11532	883	31	1		1	PCDH11X	23	91132649	Silent	SNP	C	TCGA-C5-A1MP-01A-11D-A14W-08		91132649	64137911	39	4108										
L1CAM	3897	genome.wustl.edu	37	chrX	153128962	153128962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	cgaaggtctcatctttcatcGgtcgggcctcagagtccacc	10	14	4	1			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chrX:153128962G>A	ENST00000370060.1	-	27	3689	c.3500C>T	c.(3499-3501)cCg>cTg	p.P1167L	L1CAM_ENST00000370057.3_Missense_Mutation_p.P1167L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P1162L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P1167L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P1169L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P1169L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P1162L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1167					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTCATCGGTCGGGCCTC	0.627																																																	0													60	55	57					X																	153128962		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3500C>T	X.37:g.153128962G>A	ENSP00000359077:p.Pro1167Leu		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1169L	ENST00000370060.1	37	c.3506	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370418	0.82573	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	4.57	4.57	0.56435	.	0.000000	0.53938	D	0.000052	D	0.92782	0.7705	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.944;0.992;0.985	D	0.93660	0.6981	10	0.66056	D	0.02	.	15.6115	0.76721	0.0:0.0:1.0:0.0	.	1162;1167;1167	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	1167;1169;1167;1169;1162;1162;67;1167	ENSP00000359077:P1167L;ENSP00000438430:P1169L;ENSP00000359074:P1167L;ENSP00000439645:P1169L;ENSP00000354712:P1162L;ENSP00000359072:P1162L;ENSP00000359075:P67L;ENSP00000355380:P1167L	ENSP00000355380:P1167L	P	-	2	0	L1CAM	152782156	1.000000	0.71417	0.924000	0.36721	0.978000	0.69477	6.071000	0.71229	2.015000	0.59207	0.529000	0.55759	CCG	L1CAM	-	NULL		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153128962	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	0.996	A	A	153128962	G	A	153128962	3	1	27	1	0	0	0	0	1	0	0	0	8608	1116	39	2	285	2	L1CAM	23	153128962	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	61996313	153128962	2141598	40	4109										
RPL10	6134	genome.wustl.edu	37	chrX	153629109	153629109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365853658536585	15	6.78014941747809e-05	3.06717519685039	3.27165354330709	2.97423049391553	0.166320065773565	0.380392156862746	10	aatttgaagacatggtggctGaaaagcggctcatcccagat	11	8	1	4			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chrX:153629109G>A	ENST00000369817.2	+	8	1135	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RPL10_ENST00000424325.2_Missense_Mutation_p.E187K|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.E136K			P27635	RL10_HUMAN	ribosomal protein L10	187					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E187K(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGTGGCTGAAAAGCGGCT	0.527																																																	1	Substitution - Missense(1)	urinary_tract(1)											38	37	37					X																	153629109		2203	4296	6499	SO:0001583	missense	6134			AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.559G>A	X.37:g.153629109G>A	ENSP00000358832:p.Glu187Lys		A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.E187K	ENST00000369817.2	37	c.559	CCDS14746.1	X	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179896	0.57800	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022	T;T;T;T	0.73258	-0.72;-0.72;-0.72;-0.73	4.81	3.88	0.44766	.	0.137147	0.46442	U	0.000294	T	0.66809	0.2827	M	0.67397	2.05	0.58432	D	0.999997	B	0.06786	0.001	B	0.17433	0.018	T	0.65713	-0.6101	10	0.39692	T	0.17	-10.9872	11.2523	0.49032	0.0:0.1822:0.8178:0.0	.	187	P27635	RL10_HUMAN	K	187;187;187;187;136	ENSP00000358832:E187K;ENSP00000413436:E187K;ENSP00000341730:E187K;ENSP00000385621:E136K	ENSP00000341730:E187K	E	+	1	0	RPL10	153282303	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.654000	0.54453	1.976000	0.57569	0.600000	0.82982	GAA	RPL10	-	pirsf_Ribosomal_L10e		0.527	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10	HGNC	protein_coding	OTTHUMT00000127774.5	G	NM_006013		153629109	1	no_errors	ENST00000344746	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153629109	G	A	153629109	3	1	27	1	0	0	0	0	1	0	0	0	13584	1291	45	1	581	1	RPL10	23	153629109	Missense_Mutation	SNP	G	TCGA-C5-A1MP-01A-11D-A14W-08	500147	153629109	1641451	41	4110										
CASP9	842	genome.wustl.edu	37	chr1	15833504	15833504	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gcgggtgcggagcccggactCacggcagaagttcacattgt	15	11	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:15833504C>A	ENST00000333868.5	-	4	614	c.520G>T	c.(520-522)Gag>Tag	p.E174*	CASP9_ENST00000348549.5_Intron|CASP9_ENST00000375890.4_Nonsense_Mutation_p.E91*|CASP9_ENST00000546424.1_Nonsense_Mutation_p.E174*	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	174					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGCCCGGACTCACGGCAGAAG	0.597																																																	0													108	109	109					1																	15833504		2203	4300	6503	SO:0001587	stop_gained	842			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.520G>T	1.37:g.15833504C>A	ENSP00000330237:p.Glu174*		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Nonsense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E174*	ENST00000333868.5	37	c.520	CCDS158.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.838783|3.838783	0.71373|0.71373	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522;ENST00000440484|ENST00000424908	.|.	.|.	.|.	5.92|5.92	-3.14|-3.14	0.05250|0.05250	.|.	1.627630|.	0.02655|.	N|.	0.106933|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.07030|.	T|.	0.85|.	.|.	1.055|1.055	0.01588|0.01588	0.2491:0.3469:0.1072:0.2969|0.2491:0.3469:0.1072:0.2969	.|.	.|.	.|.	.|.	X|L	174;174;18;91;91;174|15	.|.	ENSP00000330237:E174X|.	E|X	-|-	1|2	0|2	CASP9|CASP9	15706091|15706091	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.645000|-0.645000	0.05409|0.05409	-0.311000|-0.311000	0.08754|0.08754	0.561000|0.561000	0.74099|0.74099	GAG|TGA	CASP9	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20		0.597	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP9	HGNC	protein_coding	OTTHUMT00000006438.1	C	NM_032996		15833504	-1	no_errors	ENST00000333868	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	15833504	C	A	15833504	4	1	28	1	0	0	0	0	0	1	0	0	2684	835	29	3	754	3	CASP9	1	15833504	Nonsense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08		15833504	233417117	1	4111										
CNKSR1	10256	genome.wustl.edu	37	chr1	26513674	26513674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cccaggatgagaaggctgagGgcctcatcaatgtctccaac	11	12	3	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:26513674G>T	ENST00000374253.5	+	15	1384	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	CNKSR1_ENST00000361530.6_Missense_Mutation_p.G442C|CNKSR1_ENST00000531191.1_Missense_Mutation_p.G184C	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	449	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCTGAGGGCCTCATCAA	0.532																																					NSCLC(180;1396 2109 28270 30756 34275)												0													90	96	94					1																	26513674		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1345G>T	1.37:g.26513674G>T	ENSP00000363371:p.Gly449Cys		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.G449C	ENST00000374253.5	37	c.1345		1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875118	0.72180	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.21543	2.0;2.0;2.0	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.68593	2.085	0.80722	D	1	P;P	0.47350	0.894;0.894	B;B	0.39706	0.307;0.307	T	0.14309	-1.0477	10	0.87932	D	0	-26.1337	19.5245	0.95199	0.0:0.0:1.0:0.0	.	449;442	Q969H4;Q53GM7	CNKR1_HUMAN;.	C	442;449;184	ENSP00000354609:G442C;ENSP00000363371:G449C;ENSP00000431817:G184C	ENSP00000354609:G442C	G	+	1	0	CNKSR1	26386261	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	8.595000	0.90840	2.608000	0.88229	0.655000	0.94253	GGC	CNKSR1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.532	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	G	NM_006314		26513674	1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26513674	G	T	26513674	3	4	28	1	0	0	0	0	1	0	0	0	3611	1232	43	4	1382	4	CNKSR1	1	26513674	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	10680170	26513674	222736947	2	4112										
BMP8A	353500	genome.wustl.edu	37	chr1	39988084	39988084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tgtccctgcagatgacgtccGcggctcccacggccggcagg	14	16	0	2	rs6525	byFrequency	TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:39988084G>A	ENST00000331593.5	+	5	1224	c.878G>A	c.(877-879)cGc>cAc	p.R293H	RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	293			R -> H (in dbSNP:rs6525). {ECO:0000269|Ref.1}.		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGACGTCCGCGGCTCCCAC	0.597																																																	0													74	59	64					1																	39988084		2202	4296	6498	SO:0001583	missense	353500			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"Bone morphogenetic proteins", "Endogenous ligands"	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.878G>A	1.37:g.39988084G>A	ENSP00000327440:p.Arg293His		Q5T3A5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.R293H	ENST00000331593.5	37	c.878	CCDS437.1	1	723	0.33104395604395603	64	0.13008130081300814	145	0.4005524861878453	229	0.40034965034965037	285	0.3759894459102902	N	5.501	0.277466	0.10403	.	.	ENSG00000183682	ENST00000331593	T	0.75704	-0.96	4.4	3.27	0.37495	Transforming growth factor-beta, C-terminal (1);	0.398039	0.24841	N	0.035176	T	0.00012	0.0000	N	0.00112	-2.095	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.34004	-0.9846	8	.	.	.	.	8.0955	0.30826	0.8251:0.0:0.1749:0.0	rs6525;rs15525;rs2073023;rs2695323;rs3186975;rs6657903;rs36033681;rs60841611	293	Q7Z5Y6	BMP8A_HUMAN	H	293	ENSP00000327440:R293H	.	R	+	2	0	BMP8A	39760671	0.004000	0.15560	0.905000	0.35620	0.071000	0.16799	0.457000	0.21875	0.192000	0.20272	-0.524000	0.04348	CGC	BMP8A	-	NULL		0.597	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP8A	HGNC	protein_coding	OTTHUMT00000023079.1	G	NM_181809		39988084	1	no_errors	ENST00000331593	ensembl	human	known	70_37	missense	SNP	0.490	A	A	39988084	G	A	39988084	3	1	28	1	0	0	0	0	1	0	0	0	1467	1087	38	2	896	2	BMP8A	1	39988084	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	13474410	39988084	209262537	3	4113										
EFCAB7	84455	genome.wustl.edu	37	chr1	63998408	63998408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ggctgatgtaaatgctgatgGcaaatttgactacatcaagg	11	6	1	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:63998408G>A	ENST00000371088.4	+	4	713	c.467G>A	c.(466-468)gGc>gAc	p.G156D	RN7SL488P_ENST00000585186.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	156	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AATGCTGATGGCAAATTTGAC	0.308																																																	0													107	112	110					1																	63998408		2203	4297	6500	SO:0001583	missense	84455			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.467G>A	1.37:g.63998408G>A	ENSP00000360129:p.Gly156Asp		Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G156D	ENST00000371088.4	37	c.467	CCDS30737.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407012	0.83230	.	.	ENSG00000203965	ENST00000371088	D	0.83837	-1.77	4.49	4.49	0.54785	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95706	0.8753	9	.	.	.	-11.3376	17.7288	0.88371	0.0:0.0:1.0:0.0	.	156	A8K855	EFCB7_HUMAN	D	156	ENSP00000360129:G156D	.	G	+	2	0	EFCAB7	63770996	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.403000	0.90208	2.494000	0.84150	0.591000	0.81541	GGC	EFCAB7	-	smart_EF_hand_Ca-bd		0.308	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	G	NM_032437		63998408	1	no_errors	ENST00000371088	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63998408	G	A	63998408	3	1	28	1	0	0	0	0	1	0	0	0	4950	1203	42	4	477	4	EFCAB7	1	63998408	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	24010324	63998408	185252213	4	4114										
IVL	3713	genome.wustl.edu	37	chr1	152883203	152883203	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gagctcccagagcagcagatGgggcagctgaagcacctgga	15	11	0	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:152883203G>T	ENST00000368764.3	+	2	994	c.930G>T	c.(928-930)atG>atT	p.M310I	IVL_ENST00000392667.2_Missense_Mutation_p.M164I			P07476	INVO_HUMAN	involucrin	310	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagatggggcagctga	0.632																																																	0													18	18	18					1																	152883203		2095	4123	6218	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.930G>T	1.37:g.152883203G>T	ENSP00000357753:p.Met310Ile		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.M310I	ENST00000368764.3	37	c.930	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	2.205	-0.382171	0.04966	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.08984	3.21;3.03	1.22	1.22	0.21188	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47935	-0.9078	9	0.41790	T	0.15	.	5.8538	0.18708	0.0:0.0:1.0:0.0	.	310	P07476	INVO_HUMAN	I	310;164	ENSP00000357753:M310I;ENSP00000376435:M164I	ENSP00000357753:M310I	M	+	3	0	IVL	151149827	0.002000	0.14202	0.009000	0.14445	0.003000	0.03518	0.015000	0.13355	0.982000	0.38575	0.461000	0.40582	ATG	IVL	-	pfam_Involucrin_rpt		0.632	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	G	NM_005547		152883203	1	no_errors	ENST00000368764	ensembl	human	known	70_37	missense	SNP	0.047	T	T	152883203	G	T	152883203	3	4	28	1	0	0	0	0	1	0	0	0	7949	1348	47	4	932	4	IVL	1	152883203	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	88884795	152883203	96367418	5	4115										
SLC27A3	11000	genome.wustl.edu	37	chr1	153752449	153752449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tcacaactgcccggtacagcGccctcctggcaggaaacctt	9	16	1	0	rs35517522	byFrequency	TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:153752449G>A	ENST00000368661.3	+	10	2229	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.A803T	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	722					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGGTACAGCGCCCTCCTGGC	0.612													G|||	4	0.000798722	0	0	5008	,	,		16361	0		0.001	False		,,,				2504	0.0031																0								G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	65	49	54		2164	2.3	0.3	1	dbSNP_126	54	11,8589	7.7+/-29.5	0,11,4289	yes	missense	SLC27A3	NM_024330.1	58	0,13,6490	AA,AG,GG		0.1279,0.0454,0.1	possibly-damaging	722/731	153752449	13,12993	2203	4300	6503	SO:0001583	missense	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.2164G>A	1.37:g.153752449G>A	ENSP00000357650:p.Ala722Thr		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A722T	ENST00000368661.3	37	c.2164	CCDS1053.1	1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045440	0.19748	4.54E-4	0.001279	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.58060	0.36;0.39	4.36	2.34	0.29019	.	0.431406	0.23694	N	0.045485	T	0.18425	0.0442	L	0.56769	1.78	0.09310	N	0.999991	P	0.37061	0.58	B	0.30401	0.115	T	0.06716	-1.0811	10	0.15066	T	0.55	-8.528	5.003	0.14273	0.1078:0.0:0.6866:0.2057	rs35517522	722	Q5K4L6	S27A3_HUMAN	T	803;722	ENSP00000271857:A803T;ENSP00000357650:A722T	ENSP00000271857:A803T	A	+	1	0	SLC27A3	152019073	0.345000	0.24835	0.324000	0.25361	0.007000	0.05969	1.566000	0.36396	1.207000	0.43291	-0.224000	0.12420	GCC	SLC27A3	-	NULL		0.612	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding		G	NM_024330		153752449	1	no_errors	ENST00000368661	ensembl	human	known	70_37	missense	SNP	0.384	A	A	153752449	G	A	153752449	3	1	28	1	0	0	0	0	1	0	0	0	14557	1087	38	2	2202	2	SLC27A3	1	153752449	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	869246	153752449	95498172	6	4116										
ADAR	103	genome.wustl.edu	37	chr1	154558839	154558839	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ccacagggattgtgccttctCctgtgtgagagacttgggtc	13	10	1	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:154558839C>G	ENST00000368474.4	-	12	3219	c.3020G>C	c.(3019-3021)gGa>gCa	p.G1007A	ADAR_ENST00000292205.5_Splice_Site_p.G1050A|ADAR_ENST00000368471.3_Splice_Site_p.G712A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1007	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.		G -> R (in AGS6). {ECO:0000269|PubMed:23001123}.		adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGTGCCTTCTCCTGTGTGAGA	0.547																																																	0													66	61	63					1																	154558839		2203	4300	6503	SO:0001630	splice_region_variant	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3020-1G>C	1.37:g.154558839C>G			B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.G1050A	ENST00000368474.4	37	c.3149	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872059	0.91587	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.58	5.58	0.84498	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.97476	0.9174	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97596	1.0120	10	0.66056	D	0.02	.	19.5736	0.95432	0.0:1.0:0.0:0.0	.	962;981;1007	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	1050;1007;712;976	ENSP00000292205:G1050A;ENSP00000357459:G1007A;ENSP00000357456:G712A;ENSP00000431794:G976A	ENSP00000292205:G1050A	G	-	2	0	ADAR	152825463	1.000000	0.71417	0.993000	0.49108	0.702000	0.40608	7.487000	0.81328	2.636000	0.89361	0.655000	0.94253	GGA	ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.547	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	C	NM_001111	Missense_Mutation	154558839	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154558839	C	G	154558839	5	3	28	1	0	0	0	0	0	0	1	0	281	869	30	1	676	1	ADAR	1	154558839	Splice_Site	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	806390	154558839	94691782	7	4117										
CASQ1	844	genome.wustl.edu	37	chr1	160171086	160171086	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aggaggacctgccttctgctGaggagctggaggactggctg	17	9	1	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:160171086G>T	ENST00000368078.3	+	11	1307	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	CASQ1_ENST00000467691.1_Nonsense_Mutation_p.E92*|CASQ1_ENST00000368079.3_Nonsense_Mutation_p.E365*|RP11-536C5.7_ENST00000418602.1_RNA			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	371	Asp-rich.				endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTTCTGCTGAGGAGCTGGA	0.547																																																	0													203	146	165					1																	160171086		2203	4300	6503	SO:0001587	stop_gained	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.1111G>T	1.37:g.160171086G>T	ENSP00000357057:p.Glu371*		B1AKZ2|B2R863|Q8TBW7	Nonsense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.E371*	ENST00000368078.3	37	c.1111	CCDS1198.2	1	.	.	.	.	.	.	.	.	.	.	G	37	6.422447	0.97555	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	.	.	.	4.77	4.77	0.60923	.	0.107311	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.7443	0.85468	0.0:0.0:1.0:0.0	.	.	.	.	X	365;371;286;92	.	ENSP00000357057:E371X	E	+	1	0	CASQ1	158437710	0.996000	0.38824	0.997000	0.53966	0.972000	0.66771	2.670000	0.46833	2.473000	0.83533	0.655000	0.94253	GAG	CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin		0.547	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	G	NM_001231		160171086	1	no_errors	ENST00000368078	ensembl	human	known	70_37	nonsense	SNP	0.981	T	T	160171086	G	T	160171086	4	4	28	1	0	0	0	0	0	1	0	0	2685	1291	45	3	1153	3	CASQ1	1	160171086	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	5612247	160171086	89079535	8	4118										
CD84	8832	genome.wustl.edu	37	chr1	160535532	160535532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	agtcttttccagctgcttccGgccctgagaacataaaaaga	8	11	1	2	rs544642873	byFrequency	TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:160535532G>A	ENST00000311224.4	-	2	116	c.50C>T	c.(49-51)cCg>cTg	p.P17L	CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Missense_Mutation_p.P17L|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.P17L|CD84_ENST00000368051.3_Missense_Mutation_p.P17L|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	17					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGCTGCTTCCGGCCCTGAGAA	0.453													G|||	2	0.000399361	0	0	5008	,	,		17615	0		0	False		,,,				2504	0.002																0													22	21	21					1																	160535532		2202	4297	6499	SO:0001583	missense	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.50C>T	1.37:g.160535532G>A	ENSP00000312367:p.Pro17Leu		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.P17L	ENST00000311224.4	37	c.50	CCDS53396.1	1	.	.	.	.	.	.	.	.	.	.	G	8.489	0.861634	0.17178	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.63255	0.35;0.32;0.32;0.11;0.08;-0.03	5.11	0.522	0.17053	.	2.906790	0.01315	N	0.010755	T	0.15219	0.0367	N	0.05031	-0.125	0.09310	N	1	B;B;B;B;B;B	0.22080	0.064;0.01;0.023;0.005;0.008;0.008	B;B;B;B;B;B	0.14023	0.01;0.003;0.01;0.001;0.003;0.003	T	0.08806	-1.0704	10	0.11182	T	0.66	-0.1095	6.8581	0.24052	0.6218:0.0:0.3782:0.0	.	17;17;17;17;17;17	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	L	17	ENSP00000357033:P17L;ENSP00000357027:P17L;ENSP00000312367:P17L;ENSP00000357030:P17L;ENSP00000353163:P17L;ENSP00000357026:P17L	ENSP00000312367:P17L	P	-	2	0	CD84	158802156	0.002000	0.14202	0.063000	0.19743	0.036000	0.12997	0.273000	0.18662	0.026000	0.15269	-0.218000	0.12543	CCG	CD84	-	NULL		0.453	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	HGNC	protein_coding	OTTHUMT00000059092.1	G	NM_003874		160535532	-1	no_errors	ENST00000311224	ensembl	human	known	70_37	missense	SNP	0.039	A	A	160535532	G	A	160535532	3	1	28	1	0	0	0	0	1	0	0	0	3047	1116	39	2	1015	2	CD84	1	160535532	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	364446	160535532	88715089	9	4119										
CR1L	1379	genome.wustl.edu	37	chr1	207890923	207890923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	atgtgacccccacccagacaGagggatgaccttcaacctca	8	15	2	4			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:207890923G>C	ENST00000508064.2	+	11	1589	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	510	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACCCAGACAGAGGGATGACC	0.527																																																	0													141	135	137					1																	207890923		1920	4120	6040	SO:0001583	missense	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1529G>C	1.37:g.207890923G>C	ENSP00000421736:p.Arg510Thr		Q32MC9|Q8NEU7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R510T	ENST00000508064.2	37	c.1529	CCDS44310.1	1	.	.	.	.	.	.	.	.	.	.	G	9.690	1.151636	0.21371	.	.	ENSG00000197721	ENST00000508064	T	0.63417	-0.04	3.01	0.803	0.18691	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.70141	0.3190	M	0.81682	2.555	0.09310	N	1	D	0.59767	0.986	P	0.62089	0.898	T	0.57642	-0.7776	9	0.19590	T	0.45	.	3.9432	0.09336	0.1642:0.2505:0.5854:0.0	.	510	Q2VPA4	CR1L_HUMAN	T	510	ENSP00000421736:R510T	ENSP00000421736:R510T	R	+	2	0	CR1L	205957546	0.004000	0.15560	0.001000	0.08648	0.256000	0.26092	0.133000	0.15912	0.045000	0.15804	0.305000	0.20034	AGA	CR1L	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.527	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	G	XM_114735		207890923	1	no_errors	ENST00000508064	ensembl	human	known	70_37	missense	SNP	0.001	C	C	207890923	G	C	207890923	3	2	28	1	0	0	0	0	1	0	0	0	3846	942	33	1	1571	1	CR1L	1	207890923	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	47355391	207890923	41359698	10	4120										
RYR2	6262	genome.wustl.edu	37	chr1	237841392	237841392	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aacatttcccttatgaacaaGaaatcaagttctttgcaaaa	4	8	2	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr1:237841392G>C	ENST00000366574.2	+	61	9192	c.8875G>C	c.(8875-8877)Gaa>Caa	p.E2959Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E2943Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E2957Q|RYR2_ENST00000609119.1_Intron	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2959					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATGAACAAGAAATCAAGTT	0.358																																																	0													108	105	106					1																	237841392		1888	4107	5995	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8875G>C	1.37:g.237841392G>C	ENSP00000355533:p.Glu2959Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2957Q	ENST00000366574.2	37	c.8869	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230383	0.58777	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;D	0.97016	-0.19;-4.18;-4.21	5.67	5.67	0.87782	.	0.088982	0.45126	D	0.000398	D	0.94155	0.8125	L	0.55481	1.735	0.80722	D	1	P	0.38395	0.629	B	0.28553	0.091	D	0.93827	0.7124	10	0.51188	T	0.08	.	19.774	0.96385	0.0:0.0:1.0:0.0	.	2959	Q92736	RYR2_HUMAN	Q	2959;2957;2943	ENSP00000355533:E2959Q;ENSP00000353174:E2957Q;ENSP00000443798:E2943Q	ENSP00000353174:E2957Q	E	+	1	0	RYR2	235908015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.485000	0.53208	2.679000	0.91253	0.591000	0.81541	GAA	RYR2	-	NULL		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237841392	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	C	C	237841392	G	C	237841392	3	2	28	1	0	0	0	0	1	0	0	0	13799	943	33	1	9117	1	RYR2	1	237841392	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	29950469	237841392	11409229	11	4121										
RNASEH1	246243	genome.wustl.edu	37	chr2	3595526	3595526	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	atttaagatactcacccactGaatgtccatcccctgggtaa	6	12	1	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:3595526G>A	ENST00000315212.3	-	7	1124	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	RP13-512J5.1_ENST00000438485.1_Nonsense_Mutation_p.Q8*	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	257	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CTCACCCACTGAATGTCCATC	0.413																																																	0													167	143	151					2																	3595526		2203	4300	6503	SO:0001587	stop_gained	246243			AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"RNase H1"	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.769C>T	2.37:g.3595526G>A	ENSP00000313350:p.Gln257*		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Nonsense_Mutation	SNP	pfam_RNaseH_domain,pfam_RNase_H1_N,superfamily_RNaseH-like_dom,superfamily_Ribosomal_L9/RNase_H1_N,pirsf_RNase_H1_euk,pfscan_RNaseH_domain	p.Q257*	ENST00000315212.3	37	c.769	CCDS1647.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.487103	0.98316	.	.	ENSG00000255767;ENSG00000171865	ENST00000438485;ENST00000315212	.	.	.	5.39	4.47	0.54385	.	0.618268	0.16594	N	0.207637	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6372	11.954	0.52970	0.0:0.0:0.7372:0.2628	.	.	.	.	X	8;257	.	ENSP00000313350:Q257X	Q	-	1	0	RNASEH1;RP13-512J5.1	3573401	0.997000	0.39634	0.997000	0.53966	0.524000	0.34500	1.920000	0.40025	2.679000	0.91253	0.591000	0.81541	CAG	RNASEH1	-	pfam_RNaseH_domain,superfamily_RNaseH-like_dom,pirsf_RNase_H1_euk,pfscan_RNaseH_domain		0.413	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH1	HGNC	protein_coding	OTTHUMT00000206605.2	G			3595526	-1	no_errors	ENST00000315212	ensembl	human	known	70_37	nonsense	SNP	0.992	A	A	3595526	G	A	3595526	4	1	28	1	0	0	0	0	0	1	0	0	13441	1299	45	1	99	1	RNASEH1	2	3595526	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		3595526	239603847	12	4122										
AGBL5	60509	genome.wustl.edu	37	chr2	27275933	27275933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cagtgatggggaaggggtagGaggtggggcgtcagccctga	21	6	1	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27275933G>C	ENST00000360131.4	+	2	266	c.107G>C	c.(106-108)gGa>gCa	p.G36A	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5-AS1_ENST00000444217.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.G36A	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	36					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGGGTAGGAGGTGGGGCG	0.542																																																	0													100	96	98					2																	27275933		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.107G>C	2.37:g.27275933G>C	ENSP00000353249:p.Gly36Ala		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.G36A	ENST00000360131.4	37	c.107	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.270785	0.01421	.	.	ENSG00000084693	ENST00000421915;ENST00000453161;ENST00000451003;ENST00000323064;ENST00000360131	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	4.53	0.586	0.17434	.	0.582682	0.18085	N	0.152179	T	0.79759	0.4501	L	0.54323	1.7	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.59526	-0.7438	10	0.05833	T	0.94	-3.2484	4.0867	0.09950	0.0852:0.4587:0.2201:0.236	.	36;36;36	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	A	36	ENSP00000395266:G36A;ENSP00000394730:G36A;ENSP00000407584:G36A;ENSP00000323681:G36A;ENSP00000353249:G36A	ENSP00000323681:G36A	G	+	2	0	AGBL5	27129437	0.000000	0.05858	0.117000	0.21633	0.757000	0.42996	-0.844000	0.04345	-0.078000	0.12730	-0.268000	0.10319	GGA	AGBL5	-	NULL		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27275933	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	0.022	C	C	27275933	G	C	27275933	3	2	28	1	0	0	0	0	1	0	0	0	378	1174	41	1	109	1	AGBL5	2	27275933	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	23680407	27275933	215923440	13	4123			1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27276028	27276028	+	Missense_Mutation	SNP	G	G	A													0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	actgtgctgaaacggaatttGagaatgggaacaggtatatg							TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27276028G>A	ENST00000360131.4	+	2	361	c.202G>A	c.(202-204)Gag>Aag	p.E68K	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5-AS1_ENST00000444217.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.E68K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	68					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACGGAATTTGAGAATGGGAA	0.512																																																	0													83	84	84					2																	27276028		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.202G>A	2.37:g.27276028G>A	ENSP00000353249:p.Glu68Lys		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.E68K	ENST00000360131.4	37	c.202	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020160	0.93462	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	D;D;D	0.90197	-2.63;-2.63;-2.63	4.44	4.44	0.53790	.	0.108055	0.64402	D	0.000007	D	0.92519	0.7624	M	0.81341	2.54	0.58432	D	0.999997	D;P;P	0.54964	0.969;0.95;0.95	P;P;P	0.48654	0.585;0.574;0.574	D	0.93129	0.6531	9	.	.	.	-7.4725	16.8612	0.86019	0.0:0.0:1.0:0.0	.	68;68;68	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	K	68	ENSP00000394730:E68K;ENSP00000323681:E68K;ENSP00000353249:E68K	.	E	+	1	0	AGBL5	27129532	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.747000	0.91610	2.294000	0.77228	0.561000	0.74099	GAG	AGBL5	-	NULL		0.512	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27276028	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27276028	G	A	27276028	3	1	28	1	0	0	0	0	1	0	0	0	378	1291	45	1	204	1	AGBL5	2	27276028	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	95	27276028	215923345	14	4124	22	2	1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27276036	27276036	+	Silent	SNP	G	G	A													0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gaaacggaatttgagaatggGaacaggtatatggaacgaaa							TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27276036G>A	ENST00000360131.4	+	2	369	c.210G>A	c.(208-210)ggG>ggA	p.G70G	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5-AS1_ENST00000444217.1_RNA|AGBL5_ENST00000323064.8_Silent_p.G70G	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	70					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGAATGGGAACAGGTATA	0.512																																																	0													79	81	80					2																	27276036		2203	4300	6503	SO:0001819	synonymous_variant	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.210G>A	2.37:g.27276036G>A			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.G70	ENST00000360131.4	37	c.210	CCDS1732.3	2																																																																																			AGBL5	-	NULL		0.512	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27276036	1	no_errors	ENST00000360131	ensembl	human	known	70_37	silent	SNP	0.985	A	A	27276036	G	A	27276036	2	1	28	1	0	0	0	0	0	0	0	1	378	1161	41	1		1	AGBL5	2	27276036	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	8	27276036	215923337	15	4125	22	2	1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27276872	27276872	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tctcctacagtgactgccagGaactgctaaaccagctagac	8	13	1	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27276872G>T	ENST00000360131.4	+	4	655	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Nonsense_Mutation_p.E166*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	166					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACTGCCAGGAACTGCTAAA	0.562																																																	0													182	176	178					2																	27276872		2203	4300	6503	SO:0001587	stop_gained	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.496G>T	2.37:g.27276872G>T	ENSP00000353249:p.Glu166*		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	pfam_Peptidase_M14	p.E166*	ENST00000360131.4	37	c.496	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	35	5.567593	0.96540	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.78	5.78	0.91487	.	0.315479	0.39341	N	0.001382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.8022	18.7765	0.91913	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	.	E	+	1	0	AGBL5	27130376	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.249000	0.95470	2.739000	0.93911	0.561000	0.74099	GAA	AGBL5	-	NULL		0.562	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27276872	1	no_errors	ENST00000360131	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27276872	G	T	27276872	4	4	28	1	0	0	0	0	0	1	0	0	378	1175	41	3	506	3	AGBL5	2	27276872	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	836	27276872	215922501	16	4126			1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27278030	27278030	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tggacttcatcctccgacctGatgatccccgggcccaaacc	8	17	1	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27278030G>A	ENST00000360131.4	+	6	976	c.817G>A	c.(817-819)Gat>Aat	p.D273N	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.D273N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	273					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGACCTGATGATCCCCG	0.532																																																	0													142	138	139					2																	27278030		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.817G>A	2.37:g.27278030G>A	ENSP00000353249:p.Asp273Asn		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.D273N	ENST00000360131.4	37	c.817	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607393	0.87157	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.10477	2.87;2.87	6.11	6.11	0.99139	Peptidase M14, carboxypeptidase A (1);	0.169713	0.64402	D	0.000006	T	0.25531	0.0621	L	0.43152	1.355	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.957;0.983	T	0.01702	-1.1292	10	0.10111	T	0.7	-11.9379	20.3293	0.98710	0.0:0.0:1.0:0.0	.	273;273;273	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	273	ENSP00000323681:D273N;ENSP00000353249:D273N	ENSP00000323681:D273N	D	+	1	0	AGBL5	27131534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.412000	0.66392	2.906000	0.99361	0.655000	0.94253	GAT	AGBL5	-	pfam_Peptidase_M14		0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278030	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27278030	G	A	27278030	3	1	28	1	0	0	0	0	1	0	0	0	378	1290	45	1	835	1	AGBL5	2	27278030	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	1158	27278030	215921343	17	4127			1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27278089	27278089	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tttaagctgattcccatgttGaaccccgatggtgtggtccg	11	10	0	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27278089G>A	ENST00000360131.4	+	6	1035	c.876G>A	c.(874-876)ttG>ttA	p.L292L	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Silent_p.L292L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	292					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCATGTTGAACCCCGATG	0.552																																																	0													152	148	149					2																	27278089		2203	4300	6503	SO:0001819	synonymous_variant	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.876G>A	2.37:g.27278089G>A			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.L292	ENST00000360131.4	37	c.876	CCDS1732.3	2																																																																																			AGBL5	-	pfam_Peptidase_M14		0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278089	1	no_errors	ENST00000360131	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27278089	G	A	27278089	2	1	28	1	0	0	0	0	0	0	0	1	378	1281	45	1		1	AGBL5	2	27278089	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	59	27278089	215921284	18	4128			1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27278589	27278589	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aatctgaaccgtcagtacctGaagcctgatgccgtcctgca	9	13	2	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27278589G>A	ENST00000360131.4	+	7	1107	c.948G>A	c.(946-948)ctG>ctA	p.L316L	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Silent_p.L316L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	316					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGTACCTGAAGCCTGATG	0.547																																																	0													102	91	95					2																	27278589		2203	4300	6503	SO:0001819	synonymous_variant	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.948G>A	2.37:g.27278589G>A			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.L316	ENST00000360131.4	37	c.948	CCDS1732.3	2																																																																																			AGBL5	-	pfam_Peptidase_M14		0.547	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278589	1	no_errors	ENST00000360131	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27278589	G	A	27278589	2	1	28	1	0	0	0	0	0	0	0	1	378	1277	45	1		1	AGBL5	2	27278589	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	500	27278589	215920784	19	4129			1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27278878	27278878	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cacaacagtctgcggggcttGaagagtcagcccctgatacc	11	13	2	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27278878G>T	ENST00000360131.4	+	7	1396	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Nonsense_Mutation_p.E413*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	413					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGGGCTTGAAGAGTCAGC	0.532																																																	0													167	166	167					2																	27278878		2203	4300	6503	SO:0001587	stop_gained	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1237G>T	2.37:g.27278878G>T	ENSP00000353249:p.Glu413*		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	pfam_Peptidase_M14	p.E413*	ENST00000360131.4	37	c.1237	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744873	0.49151	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.16	0.866	0.19079	.	0.759512	0.13624	N	0.374222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-7.356	9.4328	0.38620	0.0809:0.4057:0.5134:0.0	.	.	.	.	X	413	.	ENSP00000323681:E413X	E	+	1	0	AGBL5	27132382	0.130000	0.22417	0.124000	0.21820	0.105000	0.19272	1.071000	0.30666	0.358000	0.24211	0.491000	0.48974	GAA	AGBL5	-	NULL		0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278878	1	no_errors	ENST00000360131	ensembl	human	known	70_37	nonsense	SNP	0.004	T	T	27278878	G	T	27278878	4	4	28	1	0	0	0	0	0	1	0	0	378	1291	45	3	1259	3	AGBL5	2	27278878	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	289	27278878	215920495	20	4130			1	23		9	8	3031	N	G	3.234626e-19
AGBL5	60509	genome.wustl.edu	37	chr2	27278963	27278963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tggacatgcttccaaaagggGctgcttcatgtacggaaaca	11	9	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:27278963G>A	ENST00000360131.4	+	7	1481	c.1322G>A	c.(1321-1323)gGc>gAc	p.G441D	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.G441D	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	441					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAAAAGGGGCTGCTTCATG	0.517																																																	0													150	148	149					2																	27278963		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1322G>A	2.37:g.27278963G>A	ENSP00000353249:p.Gly441Asp		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.G441D	ENST00000360131.4	37	c.1322	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	33	5.268273	0.95429	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.34859	1.34;1.34	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62882	-0.6760	10	0.59425	D	0.04	-18.5097	20.0291	0.97531	0.0:0.0:1.0:0.0	.	441;441;441	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	D	441	ENSP00000323681:G441D;ENSP00000353249:G441D	ENSP00000323681:G441D	G	+	2	0	AGBL5	27132467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.359000	0.97115	2.838000	0.97847	0.561000	0.74099	GGC	AGBL5	-	NULL		0.517	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278963	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27278963	G	A	27278963	3	1	28	1	0	0	0	0	1	0	0	0	378	1203	42	4	1344	4	AGBL5	2	27278963	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	85	27278963	215920410	21	4131			1	23		9	8	3031	N	G	3.234626e-19
ANKRD36	375248	genome.wustl.edu	37	chr2	97877440	97877440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ggaagattctgttccgaataTggccacggaaaaaaaggatg	12	6	1	1	rs35711845	byFrequency	TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:97877440T>C	ENST00000461153.2	+	58	3675	c.3431T>C	c.(3430-3432)aTg>aCg	p.M1144T	ANKRD36_ENST00000420699.2_Missense_Mutation_p.M1144T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1144										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTTCCGAATATGGCCACGGAA	0.338													.|||	1324	0.264377	0.0885	0.3602	5008	,	,		25668	0.1964		0.5129	False		,,,				2504	0.2485																0								T	THR/MET	250,1134		3,244,445	149	140	143		3431	-2.3	0	2	dbSNP_126	143	1583,1599		99,1385,107	yes	missense	ANKRD36	NM_001164315.1	81	102,1629,552	CC,CT,TT		49.7486,18.0636,40.1445	benign	1144/1942	97877440	1833,2733	692	1591	2283	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3431T>C	2.37:g.97877440T>C	ENSP00000419530:p.Met1144Thr		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1144T	ENST00000461153.2	37	c.3431	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	1.894	-0.454824	0.04540	0.180636	0.497486	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77229	-1.08;-1.08	1.17	-2.3	0.06785	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39941	-0.9589	8	0.23891	T	0.37	.	1.5487	0.02570	0.4242:0.0:0.2415:0.3342	rs35711845;rs62156172	1144	A6QL64	AN36A_HUMAN	T	1144;1144;404	ENSP00000419530:M1144T;ENSP00000391950:M1144T	ENSP00000391950:M1144T	M	+	2	0	ANKRD36	97241167	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.779000	0.26746	-0.591000	0.05859	-0.727000	0.03589	ATG	ANKRD36	-	NULL		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	T			97877440	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.000	C	C	97877440	T	C	97877440	3	2	28	1	0	0	0	0	1	0	0	0	665	1464	51	5	3661	5	ANKRD36	2	97877440	Missense_Mutation	SNP	T	TCGA-C5-A1MQ-01A-11D-A14W-08	70598477	97877440	145321933	22	4132										
BUB1	699	genome.wustl.edu	37	chr2	111419251	111419251	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	atgctctggctggtggctggGgacaccaaagctgcagaaat	14	9	1	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:111419251G>T	ENST00000302759.6	-	10	1243	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	BUB1_ENST00000409311.1_Silent_p.S375S|BUB1_ENST00000535254.1_Silent_p.S355S	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	375					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGTGGCTGGGGACACCAAAG	0.507																																																	0													122	116	118					2																	111419251		2203	4300	6503	SO:0001819	synonymous_variant	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1125C>A	2.37:g.111419251G>T			E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.S375	ENST00000302759.6	37	c.1125	CCDS33273.1	2																																																																																			BUB1	-	NULL		0.507	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	G	NM_004336		111419251	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	silent	SNP	0.573	T	T	111419251	G	T	111419251	2	4	28	1	0	0	0	0	0	0	0	1	1573	1219	43	4		4	BUB1	2	111419251	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	13541811	111419251	131780122	23	4133										
TTN	7273	genome.wustl.edu	37	chr2	179614007	179614007	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ataaacagtaccctctgcttGgtgcagctttgatttttcac	7	10	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr2:179614007G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q4374K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTCTGCTTGGTGCAGCTTT	0.358																																																	0													72	77	75					2																	179614007		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3843C>A	2.37:g.179614007G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q4374K	ENST00000591111.1	37	c.13120		2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396256	0.42512	.	.	ENSG00000155657	ENST00000360870	T	0.57107	0.42	5.95	2.88	0.33553	.	.	.	.	.	T	0.36054	0.0953	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.21895	-1.0232	9	0.35671	T	0.21	.	9.353	0.38149	0.0:0.2141:0.4994:0.2865	.	4374	Q8WZ42-6	.	K	4374	ENSP00000354117:Q4374K	ENSP00000354117:Q4374K	Q	-	1	0	TTN	179322252	0.001000	0.12720	0.176000	0.23000	0.491000	0.33493	0.796000	0.26986	0.836000	0.34901	0.563000	0.77884	CAA	TTN	-	NULL		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179614007	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.000	T	T	179614007	G	T	179614007	1	4	28	0	1	0	0	0	0	0	0	0	16766	1357	47	4		4	TTN	2	179614007	Intron	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	68194756	179614007	63585366	24	4134										
C3orf20	84077	genome.wustl.edu	37	chr3	14798948	14798948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cagactgcccgctggtgctgCggaagctcatgctcaaggaa	13	12	2	1	rs199803083		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:14798948C>T	ENST00000253697.3	+	13	2463	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	C3orf20_ENST00000412910.1_Missense_Mutation_p.R549W|C3orf20_ENST00000435614.1_Missense_Mutation_p.R549W	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	671						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R671W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTGGTGCTGCGGAAGCTCAT	0.682													C|||	1	0.000199681	0	0	5008	,	,		18903	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											48	48	48					3																	14798948		2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2011C>T	3.37:g.14798948C>T	ENSP00000253697:p.Arg671Trp		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.R671W	ENST00000253697.3	37	c.2011	CCDS33706.1	3	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.86	2.662677	0.47572	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.26223	2.04;1.75;1.75	4.95	4.05	0.47172	.	0.000000	0.46442	D	0.000294	T	0.48519	0.1504	M	0.76574	2.34	0.38457	D	0.94711	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54735	-0.8249	10	0.87932	D	0	-26.1088	10.4301	0.44403	0.1953:0.8047:0.0:0.0	.	549;671	Q8ND61-2;Q8ND61	.;CC020_HUMAN	W	671;549;549	ENSP00000253697:R671W;ENSP00000402933:R549W;ENSP00000396081:R549W	ENSP00000253697:R671W	R	+	1	2	C3orf20	14773952	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	0.582000	0.23834	1.041000	0.40125	0.297000	0.19635	CGG	C3orf20	-	NULL		0.682	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	C	NM_032137		14798948	1	no_errors	ENST00000253697	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14798948	C	T	14798948	3	4	28	1	0	0	0	0	1	0	0	0	2218	759	27	2	2053	2	C3orf20	3	14798948	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08		14798948	183223482	25	4135										
ARIH2	10425	genome.wustl.edu	37	chr3	49002355	49002355	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tgctttttgttttgtagataCaagtccaattctgctcaact	6	8	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:49002355C>G	ENST00000356401.4	+	5	666	c.327C>G	c.(325-327)taC>taG	p.Y109*	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Nonsense_Mutation_p.Y109*	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	109					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TTTGTAGATACAAGTCCAATT	0.383																																																	0													187	157	167					3																	49002355		2203	4300	6503	SO:0001587	stop_gained	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.327C>G	3.37:g.49002355C>G	ENSP00000348769:p.Tyr109*		Q9HBZ6|Q9UEM9	Nonsense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.Y109*	ENST00000356401.4	37	c.327	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.781341	0.97833	.	.	ENSG00000177479	ENST00000430423;ENST00000356401;ENST00000449376;ENST00000444790	.	.	.	4.88	4.88	0.63580	.	0.274708	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8584	0.52451	0.0:0.919:0.0:0.081	.	.	.	.	X	109;109;109;108	.	ENSP00000348769:Y109X	Y	+	3	2	ARIH2	48977359	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.048000	0.41278	2.411000	0.81874	0.557000	0.71058	TAC	ARIH2	-	NULL		0.383	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	C	NM_006321		49002355	1	no_errors	ENST00000356401	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	49002355	C	G	49002355	4	3	28	1	0	0	0	0	0	1	0	0	924	489	17	4	337	4	ARIH2	3	49002355	Nonsense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	34203407	49002355	149020075	26	4136										
DALRD3	55152	genome.wustl.edu	37	chr3	49055216	49055216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tgtgggaggaagctctctccGaggcagcgggccagtccacc	15	13	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:49055216G>A	ENST00000341949.4	-	3	554	c.548C>T	c.(547-549)tCg>tTg	p.S183L	DALRD3_ENST00000496568.1_5'UTR|MIR425_ENST00000362162.1_RNA|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_5'Flank|DALRD3_ENST00000395462.4_Missense_Mutation_p.S16L|DALRD3_ENST00000313778.5_Missense_Mutation_p.S16L|DALRD3_ENST00000441576.2_Missense_Mutation_p.S183L|DALRD3_ENST00000440857.1_Missense_Mutation_p.S16L	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	183					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCTCTCTCCGAGGCAGCGGG	0.637																																																	0													44	35	38					3																	49055216		2203	4300	6503	SO:0001583	missense	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.548C>T	3.37:g.49055216G>A	ENSP00000344989:p.Ser183Leu		Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.S183L	ENST00000341949.4	37	c.548	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	g	15.47	2.844338	0.51164	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.54071	0.72;0.78;0.67;0.59;0.67;0.77	5.06	3.28	0.37604	.	0.311089	0.30473	N	0.009548	T	0.45915	0.1366	M	0.64997	1.995	0.09310	N	1	B;P;B;P	0.47604	0.017;0.898;0.007;0.837	B;B;B;B	0.39379	0.004;0.298;0.004;0.074	T	0.36915	-0.9728	10	0.39692	T	0.17	-2.405	9.7901	0.40699	0.2225:0.0:0.7775:0.0	.	183;16;183;183	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	L	183;183;16;16;16;148	ENSP00000410623:S183L;ENSP00000344989:S183L;ENSP00000378846:S16L;ENSP00000403770:S16L;ENSP00000323265:S16L;ENSP00000397385:S148L	ENSP00000323265:S16L	S	-	2	0	DALRD3	49030220	0.059000	0.20769	0.012000	0.15200	0.147000	0.21601	1.860000	0.39428	0.545000	0.28902	-0.126000	0.14955	TCG	DALRD3	-	NULL		0.637	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	G	NM_018114		49055216	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	missense	SNP	0.001	A	A	49055216	G	A	49055216	3	1	28	1	0	0	0	0	1	0	0	0	4234	1059	37	1	1123	1	DALRD3	3	49055216	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	52861	49055216	148967214	27	4137										
NISCH	11188	genome.wustl.edu	37	chr3	52513765	52513765	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ccactttctggatgctctagGtctgtctggatgacacagtg	11	10	4	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:52513765G>T	ENST00000479054.1	+	13	1375	c.1303G>T	c.(1303-1305)Gtc>Ttc	p.V435F	NISCH_ENST00000488380.1_Splice_Site_p.V435F|NISCH_ENST00000345716.4_Splice_Site_p.V435F|NISCH_ENST00000420808.2_Splice_Site_p.V435F			Q9Y2I1	NISCH_HUMAN	nischarin	435	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GATGCTCTAGGTCTGTCTGGA	0.522																																																	0													75	61	66					3																	52513765		2203	4300	6503	SO:0001630	splice_region_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1303-1G>T	3.37:g.52513765G>T			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.V435F	ENST00000479054.1	37	c.1303	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537001	0.65085	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.09817	2.94;2.94;3.12;3.04	5.79	3.98	0.46160	.	0.056806	0.64402	D	0.000001	T	0.21186	0.0510	L	0.50333	1.59	0.53688	D	0.999976	D;D	0.65815	0.958;0.995	P;P	0.59056	0.642;0.851	T	0.00440	-1.1738	9	.	.	.	-37.0529	12.0673	0.53596	0.1287:0.0:0.8713:0.0	.	435;435	Q9Y2I1;C9J715	NISCH_HUMAN;.	F	435	ENSP00000418232:V435F;ENSP00000339958:V435F;ENSP00000417812:V435F;ENSP00000392484:V435F	.	V	+	1	0	NISCH	52488805	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	5.936000	0.70153	0.786000	0.33708	0.655000	0.94253	GTC	NISCH	-	NULL		0.522	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184	Missense_Mutation	52513765	1	no_errors	ENST00000345716	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52513765	G	T	52513765	5	4	28	1	0	0	0	0	0	0	1	0	10456	1275	44	4	1349	4	NISCH	3	52513765	Splice_Site	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	3458549	52513765	145508665	28	4138										
ALCAM	214	genome.wustl.edu	37	chr3	105290745	105290745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tcggtaatatggaagaaaacAaaaagttagaagaaaacaat	8	3	0	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:105290745A>C	ENST00000306107.5	+	15	2214	c.1714A>C	c.(1714-1716)Aaa>Caa	p.K572Q	ALCAM_ENST00000472644.2_Missense_Mutation_p.K559Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.K521Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.K294Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	572					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGAAGAAAACAAAAAGTTAGA	0.353																																																	0													72	69	70					3																	105290745		2203	4300	6503	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1714A>C	3.37:g.105290745A>C	ENSP00000305988:p.Lys572Gln		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.K572Q	ENST00000306107.5	37	c.1714	CCDS33810.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.01|18.01	3.528387|3.528387	0.64860|0.64860	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.59638|.	0.34;0.58;0.25;1.03|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.044685|.	0.85682|.	N|.	0.000000|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.36672|0.36672	1.1|1.1	0.53005|0.53005	D|D	0.99996|0.99996	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.76071|.	0.981;0.981;0.987|.	T|T	0.55134|0.55134	-0.8188|-0.8188	10|5	0.54805|.	T|.	0.06|.	-24.8136|-24.8136	15.7464|15.7464	0.77949|0.77949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	294;559;572|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	Q|P	572;559;521;294|332	ENSP00000305988:K572Q;ENSP00000419236:K559Q;ENSP00000418213:K521Q;ENSP00000374577:K294Q|.	ENSP00000305988:K572Q|.	K|Q	+|+	1|2	0|0	ALCAM|ALCAM	106773435|106773435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.000000|6.000000	0.70678|0.70678	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	AAA|CAA	ALCAM	-	NULL		0.353	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	A	NM_001627		105290745	1	no_errors	ENST00000306107	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105290745	A	C	105290745	3	2	28	1	0	0	0	0	1	0	0	0	487	131	5	5	1772	5	ALCAM	3	105290745	Missense_Mutation	SNP	A	TCGA-C5-A1MQ-01A-11D-A14W-08	52776980	105290745	92731685	29	4139										
PLXNA1	5361	genome.wustl.edu	37	chr3	126736417	126736417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ctgcttgtgctcaactccacCtccttcctctactaccctga	4	18	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:126736417C>T	ENST00000393409.2	+	17	3426	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	PLXNA1_ENST00000251772.4_Silent_p.T1119T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1142	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCAACTCCACCTCCTTCCTCT	0.647																																																	0													162	159	160					3																	126736417		2203	4300	6503	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3426C>T	3.37:g.126736417C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.T1142	ENST00000393409.2	37	c.3426	CCDS33847.2	3																																																																																			PLXNA1	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.647	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	C	NM_032242		126736417	1	no_errors	ENST00000393409	ensembl	human	known	70_37	silent	SNP	0.873	T	T	126736417	C	T	126736417	2	4	28	1	0	0	0	0	0	0	0	1	12143	668	24	4		4	PLXNA1	3	126736417	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	21445672	126736417	71286013	30	4140										
TNIK	23043	genome.wustl.edu	37	chr3	171087431	171087431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tataaacttgcccgtatgttCcatttccaacaagttccacc	4	13	0	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:171087431C>A	ENST00000436636.2	-	2	445	c.101G>T	c.(100-102)gGa>gTa	p.G34V	TNIK_ENST00000369326.5_Missense_Mutation_p.G34V|TNIK_ENST00000475336.1_Missense_Mutation_p.G34V|TNIK_ENST00000538048.1_Missense_Mutation_p.G34V|TNIK_ENST00000284483.8_Missense_Mutation_p.G34V|TNIK_ENST00000470834.1_Missense_Mutation_p.G34V|TNIK_ENST00000357327.5_Missense_Mutation_p.G34V|TNIK_ENST00000341852.6_Missense_Mutation_p.G34V|TNIK_ENST00000460047.1_Missense_Mutation_p.G34V|TNIK_ENST00000488470.1_Missense_Mutation_p.G34V|TNIK_ENST00000465393.1_Missense_Mutation_p.G34V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	34	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCCGTATGTTCCATTTCCAAC	0.383																																																	0													81	70	73					3																	171087431		1843	4087	5930	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.101G>T	3.37:g.171087431C>A	ENSP00000399511:p.Gly34Val		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.G34V	ENST00000436636.2	37	c.101	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447910	0.84101	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000465393	D;D;D;D;D;D;D;D;D;D;T	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.22	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.96599	0.8890	H	0.99806	4.795	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.985;0.994;0.999;0.994;0.994;0.994;0.999;0.996	D	0.98364	1.0550	10	0.87932	D	0	.	18.8126	0.92064	0.0:1.0:0.0:0.0	.	34;34;34;34;34;34;34;34	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	34	ENSP00000399511:G34V;ENSP00000358332:G34V;ENSP00000443278:G34V;ENSP00000345352:G34V;ENSP00000284483:G34V;ENSP00000418156:G34V;ENSP00000349880:G34V;ENSP00000418916:G34V;ENSP00000418378:G34V;ENSP00000419990:G34V;ENSP00000419308:G34V	ENSP00000284483:G34V	G	-	2	0	TNIK	172570125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.111000	0.71541	2.739000	0.93911	0.655000	0.94253	GGA	TNIK	-	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		0.383	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		171087431	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A	A	171087431	C	A	171087431	3	1	28	1	0	0	0	0	1	0	0	0	16343	855	30	3	4109	3	TNIK	3	171087431	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	44351014	171087431	26934999	31	4141										
TMEM207	131920	genome.wustl.edu	37	chr3	190147473	190147473	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aggatataggtcaggggtttGagtttgaaggtgaattccaa	14	3	1	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr3:190147473G>T	ENST00000354905.2	-	5	418	c.352C>A	c.(352-354)Caa>Aaa	p.Q118K		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	118						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		TCAGGGGTTTGAGTTTGAAGG	0.418																																																	0													149	141	143					3																	190147473		2203	4300	6503	SO:0001583	missense	131920			BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.352C>A	3.37:g.190147473G>T	ENSP00000346981:p.Gln118Lys			Missense_Mutation	SNP	NULL	p.Q118K	ENST00000354905.2	37	c.352	CCDS3297.1	3	.	.	.	.	.	.	.	.	.	.	G	5.431	0.264633	0.10294	.	.	ENSG00000198398	ENST00000354905	T	0.46451	0.87	5.72	4.84	0.62591	.	0.818222	0.10535	N	0.663336	T	0.41511	0.1162	L	0.44542	1.39	0.09310	N	1	P	0.52316	0.952	P	0.44811	0.461	T	0.19321	-1.0309	10	0.40728	T	0.16	-0.0702	12.6294	0.56649	0.0:0.1665:0.8335:0.0	.	118	Q6UWW9	TM207_HUMAN	K	118	ENSP00000346981:Q118K	ENSP00000346981:Q118K	Q	-	1	0	TMEM207	191630167	0.010000	0.17322	0.021000	0.16686	0.041000	0.13682	1.349000	0.33998	1.389000	0.46526	0.655000	0.94253	CAA	TMEM207	-	NULL		0.418	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM207	HGNC	protein_coding	OTTHUMT00000343515.1	G	NM_207316		190147473	-1	no_errors	ENST00000354905	ensembl	human	known	70_37	missense	SNP	0.014	T	T	190147473	G	T	190147473	3	4	28	1	0	0	0	0	1	0	0	0	16162	1299	45	3	92	3	TMEM207	3	190147473	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	19060042	190147473	7874957	32	4142										
EVC2	132884	genome.wustl.edu	37	chr4	5620291	5620291	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aaattgctgcagcagaactcGggcccggatcttggggaggg	16	9	1	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr4:5620291G>A	ENST00000344408.5	-	15	2673	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	EVC2_ENST00000344938.1_Nonsense_Mutation_p.R874*|EVC2_ENST00000310917.2_Nonsense_Mutation_p.R794*	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	874					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGCAGAACTCGGGCCCGGATC	0.607																																																	0													45	43	44					4																	5620291		2203	4300	6503	SO:0001587	stop_gained	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2620C>T	4.37:g.5620291G>A	ENSP00000342144:p.Arg874*		Q86YT3|Q86YT4|Q8NG49	Nonsense_Mutation	SNP	pfam_Limbin	p.R874*	ENST00000344408.5	37	c.2620	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	47	13.422608	0.99741	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	.	.	.	5.3	4.4	0.53042	.	0.162902	0.42420	D	0.000714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9061	12.4056	0.55439	0.0:0.0:0.8311:0.1689	.	.	.	.	X	874;794;874	.	ENSP00000311683:R794X	R	-	1	2	EVC2	5671192	0.987000	0.35691	0.998000	0.56505	0.966000	0.64601	2.503000	0.45407	2.488000	0.83962	0.655000	0.94253	CGA	EVC2	-	NULL		0.607	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	G	NM_147127		5620291	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	nonsense	SNP	0.988	A	A	5620291	G	A	5620291	4	1	28	1	0	0	0	0	0	1	0	0	5298	1124	39	2	1338	2	EVC2	4	5620291	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		5620291	185533985	33	4143										
C4orf41	60684	genome.wustl.edu	37	chr4	184618885	184618885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ccctttctgttgatgacggaCctcttaagtgcctcaccctg	8	14	3	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr4:184618885C>A	ENST00000334690.6	+	25	2950	c.2748C>A	c.(2746-2748)gaC>gaA	p.D916E	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.D522E|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.D916E	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	916					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TGATGACGGACCTCTTAAGTG	0.488																																																	0													134	126	129					4																	184618885		2203	4300	6503	SO:0001583	missense	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2748C>A	4.37:g.184618885C>A	ENSP00000335371:p.Asp916Glu		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.D916E	ENST00000334690.6	37	c.2748	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900796	0.52227	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.54	0.835	0.18886	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	L	0.60455	1.87	0.44918	D	0.997934	D;P;D;P	0.89917	1.0;0.767;0.999;0.565	D;P;D;B	0.77557	0.99;0.545;0.976;0.107	T	0.61734	-0.7002	9	0.08837	T	0.75	.	9.7126	0.40254	0.0:0.4935:0.0:0.5065	.	647;522;916;916	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	E	916;916;916;522	.	ENSP00000335371:D916E	D	+	3	2	C4orf41	184855879	0.994000	0.37717	0.007000	0.13788	0.968000	0.65278	0.839000	0.27586	-0.090000	0.12462	-0.136000	0.14681	GAC	TRAPPC11	-	NULL		0.488	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184618885	1	no_errors	ENST00000334690	ensembl	human	known	70_37	missense	SNP	0.440	A	A	184618885	C	A	184618885	3	1	28	1	0	0	0	0	1	0	0	0	2275	506	18	4	2842	4	C4orf41	4	184618885	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	178998594	184618885	6535391	34	4144										
C5orf35	133383	genome.wustl.edu	37	chr5	56205485	56205485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gggcagccatgcctggccgtCtgctgcggggcctgtggcag	18	13	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr5:56205485C>T	ENST00000285947.2	+	1	399	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	SETD9_ENST00000541720.1_Silent_p.L5L|AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	5							methyltransferase activity (GO:0008168)										GCCTGGCCGTCTGCTGCGGGG	0.731																																																	0													23	18	20					5																	56205485		2192	4282	6474	SO:0001819	synonymous_variant	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.13C>T	5.37:g.56205485C>T			F5H713	Silent	SNP	NULL	p.L5	ENST00000285947.2	37	c.13	CCDS3972.1	5																																																																																			SETD9	-	NULL		0.731	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56205485	1	no_errors	ENST00000285947	ensembl	human	known	70_37	silent	SNP	0.924	T	T	56205485	C	T	56205485	2	4	28	1	0	0	0	0	0	0	0	1	2299	912	32	1		1	C5orf35	5	56205485	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08		56205485	124709775	35	4145										
ARHGEF37	389337	genome.wustl.edu	37	chr5	149008510	149008510	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cagcccagctctagtgccctCtattcccaccatgaaccagg	7	17	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr5:149008510C>G	ENST00000333677.6	+	12	1962	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	600						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CTAGTGCCCTCTATTCCCACC	0.587																																																	0													38	42	41					5																	149008510		1947	4135	6082	SO:0001583	missense	389337			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1799C>G	5.37:g.149008510C>G	ENSP00000328083:p.Ser600Cys		Q6ZW51	Missense_Mutation	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.S600C	ENST00000333677.6	37	c.1799	CCDS43385.1	5	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032260	0.35893	.	.	ENSG00000183111	ENST00000333677	T	0.69561	-0.41	5.1	2.84	0.33178	Src homology-3 domain (1);	0.637190	0.16226	N	0.223839	T	0.49813	0.1579	N	0.24115	0.695	0.09310	N	1	P	0.48162	0.906	B	0.43754	0.43	T	0.44221	-0.9342	10	0.66056	D	0.02	-2.052	4.4435	0.11586	0.0:0.6251:0.2262:0.1487	.	600	A1IGU5	ARH37_HUMAN	C	600	ENSP00000328083:S600C	ENSP00000328083:S600C	S	+	2	0	ARHGEF37	148988703	0.003000	0.15002	0.110000	0.21437	0.041000	0.13682	1.633000	0.37113	1.245000	0.43885	0.491000	0.48974	TCT	ARHGEF37	-	superfamily_SH3_domain		0.587	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	C	NM_001001669		149008510	1	no_errors	ENST00000333677	ensembl	human	known	70_37	missense	SNP	0.008	G	G	149008510	C	G	149008510	3	3	28	1	0	0	0	0	1	0	0	0	906	913	32	1	1841	1	ARHGEF37	5	149008510	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	92803025	149008510	31906750	36	4146										
C5orf40	408263	genome.wustl.edu	37	chr5	156770011	156770011	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cgtggcatttccaccaggggGagcccctgcaggtcttcctc	12	15	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr5:156770011G>A	ENST00000312349.4	-	2	721	c.534C>T	c.(532-534)ctC>ctT	p.L178L	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	178						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCACCAGGGGGAGCCCCTGCA	0.622											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	82	80					5																	156770011		2203	4300	6503	SO:0001819	synonymous_variant	408263			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.534C>T	5.37:g.156770011G>A		1781	A8K0Y6	Silent	SNP	superfamily_Fibronectin_type3	p.L178	ENST00000312349.4	37	c.534	CCDS4337.1	5																																																																																			FNDC9	-	NULL		0.622	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC9	HGNC	protein_coding	OTTHUMT00000252573.2	G	NM_001001343		156770011	-1	no_errors	ENST00000312349	ensembl	human	known	70_37	silent	SNP	1.000	A	A	156770011	G	A	156770011	2	1	28	1	0	0	0	0	0	0	0	1	2304	1161	41	1		1	C5orf40	5	156770011	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	7761501	156770011	24145249	37	4147										
HIST1H3E	8353	genome.wustl.edu	37	chr6	26225698	26225698	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cctacttggtggggcttttcGaggacaccaacctgtgcgct	12	12	0	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr6:26225698G>C	ENST00000360408.1	+	1	316	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGGGCTTTTCGAGGACACCAA	0.587											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													92	92	92					6																	26225698		2203	4300	6503	SO:0001583	missense	8353			M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.316G>C	6.37:g.26225698G>C	ENSP00000353581:p.Glu106Gln	785	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E106Q	ENST00000360408.1	37	c.316	CCDS4596.1	6	.	.	.	.	.	.	.	.	.	.	.	15.72	2.916047	0.52546	.	.	ENSG00000196966	ENST00000360408	T	0.71698	-0.59	4.45	3.55	0.40652	.	.	.	.	.	T	0.72228	0.3434	.	.	.	0.36041	D	0.84006	.	.	.	.	.	.	T	0.77680	-0.2497	6	0.87932	D	0	.	13.6571	0.62344	0.0:0.1564:0.8436:0.0	.	.	.	.	Q	106	ENSP00000353581:E106Q	ENSP00000353581:E106Q	E	+	1	0	HIST1H3E	26333677	1.000000	0.71417	0.938000	0.37757	0.701000	0.40568	7.788000	0.85771	1.206000	0.43276	0.491000	0.48974	GAG	HIST1H3E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.587	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3E	HGNC	protein_coding	OTTHUMT00000040097.1	G	NM_003532		26225698	1	no_errors	ENST00000360408	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26225698	G	C	26225698	3	2	28	1	0	0	0	0	1	0	0	0	7179	1059	37	1	318	1	HIST1H3E	6	26225698	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		26225698	144889369	38	4148										
HLA-A	3105	genome.wustl.edu	37	chr6	29911899	29911900	+	Splice_Site	INS	-	-	C													0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ttctgactcttcccgtcagaINScccccccaagacacatatga					rs199474608|rs199474609|rs386698554|rs377011235|rs41544717		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr6:29911899_29911900insC	ENST00000396634.1	+	6	961_962	c.620_621insC	c.(619-624)gacccc>gaCcccc	p.DP207fs	HLA-A_ENST00000376809.5_Splice_Site_p.DP207fs|HLA-A_ENST00000376806.5_Splice_Site_p.DP207fs|HLA-A_ENST00000376802.2_Splice_Site_p.DP207fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	207	Alpha-3.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAGA	0.574									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.620-1->C	6.37:g.29911906_29911906dupC			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.K210fs	ENST00000396634.1	37	c.620_621	CCDS34373.1	6																																																																																			HLA-A	-	pfscan_Ig-like		0.574	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	NM_002116	Frame_Shift_Ins	29911900	1	no_errors	ENST00000376806	ensembl	human	known	70_37	frame_shift_ins	INS	0.903:0.000	C	C	29911900	-	C	29911899	8	5	28	1	0	1	1	0	0	0	1	0	7215	289	10	0	634	0	HLA-A	6	29911899	Splice_Site	INS	-	TCGA-C5-A1MQ-01A-11D-A14W-08	3686201	29911899	141203168	39	4149										
PKHD1	5314	genome.wustl.edu	37	chr6	51701256	51701256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gagaatgacttgaacttggcCttcacctgaaactaaatacc	7	10	1	4			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr6:51701256C>A	ENST00000371117.3	-	51	8394	c.8119G>T	c.(8119-8121)Ggc>Tgc	p.G2707C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2707C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2707					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAACTTGGCCTTCACCTGAA	0.393																																																	0													139	117	124					6																	51701256		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8119G>T	6.37:g.51701256C>A	ENSP00000360158:p.Gly2707Cys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.G2707C	ENST00000371117.3	37	c.8119	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220879	0.79464	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88509	-2.19;-2.39	6.17	6.17	0.99709	.	0.135138	0.51477	D	0.000085	D	0.92779	0.7704	L	0.59436	1.845	0.43010	D	0.994543	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.71656	0.974;0.794;0.974	D	0.92445	0.5965	10	0.72032	D	0.01	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	2707;2707;2707	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2707	ENSP00000360158:G2707C;ENSP00000341097:G2707C	ENSP00000341097:G2707C	G	-	1	0	PKHD1	51809215	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.285000	0.58989	2.941000	0.99782	0.655000	0.94253	GGC	PKHD1	-	NULL		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51701256	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51701256	C	A	51701256	3	1	28	1	0	0	0	0	1	0	0	0	11995	681	24	4	4212	4	PKHD1	6	51701256	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	21789357	51701256	119413811	40	4150										
CARD11	84433	genome.wustl.edu	37	chr7	2952970	2952970	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cctcccgagttgagcagcctCtgcaccagcgtcttggccag	11	16	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr7:2952970C>T	ENST00000396946.4	-	22	3373	c.2970G>A	c.(2968-2970)caG>caA	p.Q990Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	990	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAGCAGCCTCTGCACCAGCG	0.667			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													63	64	64					7																	2952970		2203	4299	6502	SO:0001819	synonymous_variant	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2970G>A	7.37:g.2952970C>T			A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.Q990	ENST00000396946.4	37	c.2970	CCDS5336.2	7																																																																																			CARD11	-	NULL		0.667	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2952970	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2952970	C	T	2952970	2	4	28	1	0	0	0	0	0	0	0	1	2650	912	32	1		1	CARD11	7	2952970	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08		2952970	156185693	41	4151										
TRRAP	8295	genome.wustl.edu	37	chr7	98609721	98609721	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gcattctgaaaacggttctcCgggacgagatcattgcttgg	12	9	3	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr7:98609721C>A	ENST00000359863.4	+	72	11532	c.11323C>A	c.(11323-11325)Cgg>Agg	p.R3775R	TRRAP_ENST00000446306.3_Silent_p.R3764R|TRRAP_ENST00000355540.3_Silent_p.R3746R|AC004893.11_ENST00000360902.1_RNA	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3775	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547																																																	0													86	78	81					7																	98609721		2203	4300	6503	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11323C>A	7.37:g.98609721C>A			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R3775	ENST00000359863.4	37	c.11323	CCDS59066.1	7																																																																																			TRRAP	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	C	NM_003496		98609721	1	no_errors	ENST00000359863	ensembl	human	known	70_37	silent	SNP	1.000	A	A	98609721	C	A	98609721	2	1	28	1	0	0	0	0	0	0	0	1	16632	643	23	2		2	TRRAP	7	98609721	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	95656751	98609721	60528942	42	4152										
MCM7	4176	genome.wustl.edu	37	chr7	99695255	99695255	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	accccggattttcatgcctcGaggagactggtccacacccc	9	16	1	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr7:99695255G>A	ENST00000303887.5	-	9	1744	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.R191*|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	367	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATGCCTCGAGGAGACTGG	0.517																																																	0													283	289	287					7																	99695255		2203	4300	6503	SO:0001587	stop_gained	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1099C>T	7.37:g.99695255G>A	ENSP00000307288:p.Arg367*		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.R367*	ENST00000303887.5	37	c.1099	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.830953	0.99607	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	4.99	4.1	0.47936	.	0.134260	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.0391	12.4655	0.55755	0.0:0.0:0.8313:0.1687	.	.	.	.	X	367;304;260;191	.	ENSP00000307288:R367X	R	-	1	2	MCM7	99533191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.409000	0.44583	1.312000	0.45043	-0.311000	0.09066	CGA	MCM7	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase		0.517	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	G			99695255	-1	no_errors	ENST00000303887	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	99695255	G	A	99695255	4	1	28	1	0	0	0	0	0	1	0	0	9415	1066	37	1	1088	1	MCM7	7	99695255	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	1085534	99695255	59443408	43	4153										
MEPCE	56257	genome.wustl.edu	37	chr7	100028535	100028535	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cccttactccacggggagggCgcctcacagcagccgcggca	13	17	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr7:100028535C>A	ENST00000310512.2	+	1	1282	c.894C>A	c.(892-894)ggC>ggA	p.G298G	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	298					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGGGGAGGGCGCCTCACAGC	0.672																																																	0													67	65	66					7																	100028535		2203	4300	6503	SO:0001819	synonymous_variant	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.894C>A	7.37:g.100028535C>A			B3KP86|D6W5V7|Q9NPD4	Silent	SNP	pfam_Bin3	p.G298	ENST00000310512.2	37	c.894	CCDS5693.1	7																																																																																			MEPCE	-	NULL		0.672	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1	C			100028535	1	no_errors	ENST00000310512	ensembl	human	known	70_37	silent	SNP	0.693	A	A	100028535	C	A	100028535	2	1	28	1	0	0	0	0	0	0	0	1	9500	755	27	2		2	MEPCE	7	100028535	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	333280	100028535	59110128	44	4154										
MRGPRX4	117196	genome.wustl.edu	37	chr11	18195401	18195401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tttccagcctggtcctgctgGtcaggatcctctgtggatcc	11	13	2	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:18195401G>T	ENST00000314254.3	+	1	1018	c.598G>T	c.(598-600)Gtc>Ttc	p.V200F	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTCCTGCTGGTCAGGATCCT	0.552																																																	0													118	112	114					11																	18195401		2199	4293	6492	SO:0001583	missense	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.598G>T	11.37:g.18195401G>T	ENSP00000314042:p.Val200Phe		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V200F	ENST00000314254.3	37	c.598	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379531	0.11466	.	.	ENSG00000179817	ENST00000314254	T	0.37411	1.2	2.85	-5.7	0.02421	GPCR, rhodopsin-like superfamily (1);	3.884170	0.01358	N	0.012151	T	0.37489	0.1005	M	0.75884	2.315	0.09310	N	1	B	0.24092	0.097	B	0.27262	0.078	T	0.28459	-1.0043	10	0.45353	T	0.12	.	6.0579	0.19822	0.3786:0.3532:0.2683:0.0	.	200	Q96LA9	MRGX4_HUMAN	F	200	ENSP00000314042:V200F	ENSP00000314042:V200F	V	+	1	0	MRGPRX4	18151977	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.567000	0.00916	-1.804000	0.01241	-1.179000	0.01719	GTC	MRGPRX4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	HGNC	protein_coding	OTTHUMT00000389788.1	G	NM_054032		18195401	1	no_errors	ENST00000314254	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18195401	G	T	18195401	3	4	28	1	0	0	0	0	1	0	0	0	9792	1261	44	4	600	4	MRGPRX4	11	18195401	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		18195401	116811115	45	4155										
IGSF22	283284	genome.wustl.edu	37	chr11	18729451	18729451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cgcttggtgctattaatgagGaactgggagtggtttttgct	14	5	0	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:18729451G>T	ENST00000513874.1	-	20	3319	c.3180C>A	c.(3178-3180)ttC>ttA	p.F1060L	IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	663										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TATTAATGAGGAACTGGGAGT	0.527																																																	0													247	202	215					11																	18729451		692	1591	2283	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3180C>A	11.37:g.18729451G>T	ENSP00000421191:p.Phe1060Leu		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1060L	ENST00000513874.1	37	c.3180	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291445	0.23564	.	.	ENSG00000179057	ENST00000513874	T	0.11821	2.74	4.77	4.77	0.60923	.	.	.	.	.	T	0.02727	0.0082	N	0.00077	-2.24	0.22354	N	0.999176	B	0.25563	0.129	B	0.23852	0.049	T	0.13522	-1.0506	9	0.02654	T	1	.	15.0499	0.71858	0.0:0.0:1.0:0.0	.	1060	D6RGV7	.	L	1060	ENSP00000421191:F1060L	ENSP00000421191:F1060L	F	-	3	2	IGSF22	18686027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.585000	0.36600	2.336000	0.79503	0.655000	0.94253	TTC	IGSF22	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	G	NM_173588		18729451	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18729451	G	T	18729451	3	4	28	1	0	0	0	0	1	0	0	0	7620	1165	41	3	816	3	IGSF22	11	18729451	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	534050	18729451	116277065	46	4156										
ANO3	63982	genome.wustl.edu	37	chr11	26681913	26681913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aagtacttagttcaagaaatGatgtatgaggctgaactgga	11	4	1	4			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:26681913G>T	ENST00000256737.3	+	27	3720	c.2868G>T	c.(2866-2868)atG>atT	p.M956I	ANO3_ENST00000525139.1_Missense_Mutation_p.M940I|ANO3_ENST00000531568.1_Missense_Mutation_p.M810I|ANO3_ENST00000537978.1_Missense_Mutation_p.M940I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	956					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCAAGAAATGATGTATGAGG	0.428																																																	0													146	136	139					11																	26681913		2203	4299	6502	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2868G>T	11.37:g.26681913G>T	ENSP00000256737:p.Met956Ile		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.M956I	ENST00000256737.3	37	c.2868	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503986	0.44558	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70399	-0.47;-0.47;-0.48;-0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.29908	0.895	0.80722	D	1	D;D	0.62365	0.983;0.991	P;P	0.58130	0.833;0.833	T	0.67971	-0.5532	10	0.21540	T	0.41	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	858;956	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	940;940;956;858;810	ENSP00000440737:M940I;ENSP00000432576:M940I;ENSP00000256737:M956I;ENSP00000432394:M810I	ENSP00000256737:M956I	M	+	3	0	ANO3	26638489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.667000	0.90743	0.650000	0.86243	ATG	ANO3	-	NULL		0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26681913	1	no_errors	ENST00000256737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26681913	G	T	26681913	3	4	28	1	0	0	0	0	1	0	0	0	698	1290	45	3	2974	3	ANO3	11	26681913	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	7952462	26681913	108324603	47	4157										
FADS1	3992	genome.wustl.edu	37	chr11	61574164	61574164	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aagtatttgtgctggtggttGtacggcatatattttttctt	10	4	1	0	rs76232633		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:61574164G>T	ENST00000350997.7	-	6	1180	c.948C>A	c.(946-948)taC>taA	p.Y316*	FADS1_ENST00000433932.1_Nonsense_Mutation_p.Y175*|FADS1_ENST00000542506.1_Nonsense_Mutation_p.Y175*|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000460649.1_5'Flank|FADS1_ENST00000536991.1_5'Flank	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	259					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTGGTGGTTGTACGGCATAT	0.488																																																	0													259	253	255					11																	61574164		2018	4185	6203	SO:0001587	stop_gained	3992				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.948C>A	11.37:g.61574164G>T	ENSP00000322229:p.Tyr316*		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Nonsense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5	p.Y316*	ENST00000350997.7	37	c.948	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148794	0.78001	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000539999	.	.	.	4.75	2.83	0.33086	.	0.429492	0.17571	U	0.169466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.0361	9.3959	0.38401	0.2402:0.0:0.7598:0.0	.	.	.	.	X	192;316;175;175;175;45	.	ENSP00000322229:Y316X	Y	-	3	2	FADS1	61330740	1.000000	0.71417	0.983000	0.44433	0.016000	0.09150	1.214000	0.32419	1.141000	0.42275	-0.150000	0.13652	TAC	FADS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase		0.488	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	HGNC	protein_coding	OTTHUMT00000347648.2	G	NM_013402		61574164	-1	no_errors	ENST00000350997	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	61574164	G	T	61574164	4	4	28	1	0	0	0	0	0	1	0	0	5380	1372	48	4	585	4	FADS1	11	61574164	Nonsense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	34892251	61574164	73432352	48	4158										
LTBP3	4054	genome.wustl.edu	37	chr11	65320673	65320673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	taagcctcttgtagccctggGgacagtcagcgcccacttcc	10	15	2	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:65320673G>T	ENST00000301873.5	-	5	1293	c.1025C>A	c.(1024-1026)cCc>cAc	p.P342H	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P342H	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	342					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTAGCCCTGGGGACAGTCAGC	0.632																																																	0													84	78	80					11																	65320673		2201	4297	6498	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1025C>A	11.37:g.65320673G>T	ENSP00000301873:p.Pro342His		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P342H	ENST00000301873.5	37	c.1025	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179315	0.78564	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866;ENST00000530426	D;D;D;D	0.93547	-3.24;-3.24;-2.52;-3.24	4.51	4.51	0.55191	Matrix fibril-associated (2);	0.000000	0.85682	D	0.000000	D	0.95146	0.8427	L	0.49640	1.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	D	0.94963	0.8110	10	0.51188	T	0.08	.	14.7349	0.69409	0.0:0.0:1.0:0.0	.	253;225;342;342	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	H	342;342;253;63	ENSP00000326647:P342H;ENSP00000301873:P342H;ENSP00000435276:P253H;ENSP00000432476:P63H	ENSP00000301873:P342H	P	-	2	0	LTBP3	65077249	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.899000	0.92544	2.336000	0.79503	0.505000	0.49811	CCC	LTBP3	-	superfamily_TB_dom		0.632	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	G	NM_021070		65320673	-1	no_errors	ENST00000301873	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65320673	G	T	65320673	3	4	28	1	0	0	0	0	1	0	0	0	9098	1232	43	4	2982	4	LTBP3	11	65320673	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	3746509	65320673	69685843	49	4159										
SFRS2B	10929	genome.wustl.edu	37	chr11	94801103	94801103	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tccaagtcctcctcggtctcCaggtctcgctcgcggtccag	10	17	2	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:94801103C>T	ENST00000529911.1	+	0	743					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CCTCGGTCTCCAGGTCTCGCT	0.597																																																	0													60	65	63					11																	94801103		2170	4287	6457			10929			AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"Serine/arginine-rich splicing factors"	16988	protein-coding gene	gene with protein product	"SR splicing factor 8"	603269	"splicing factor, arginine/serine-rich 2B"	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801103C>T			B2R6B8|Q6PF01|Q96TA3	RNA	SNP	-	NULL	ENST00000529911.1	37	NULL		11																																																																																			SRSF8	-	-		0.597	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	SRSF8	HGNC	polymorphic_pseudogene	OTTHUMT00000390962.3	C	NM_032102		94801103	1	no_errors	ENST00000529911	ensembl	human	known	70_37	rna	SNP	1.000	T	T	94801103	C	T	94801103	1	4	28	0	1	0	0	0	0	0	0	0	14206	594	21	4		4	SFRS2B	11	94801103	RNA	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	29480430	94801103	40205413	50	4160										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120312840	120312840	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	atctctattcagacctgtatAaacataccaattccaaagaa	3	10	2	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:120312840A>T	ENST00000397843.2	+	15	1397	c.1231A>T	c.(1231-1233)Aaa>Taa	p.K411*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.K392*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.K308*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	411	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGACCTGTATAAACATACCAA	0.363			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													139	118	124					11																	120312840		1847	4089	5936	SO:0001587	stop_gained	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1231A>T	11.37:g.120312840A>T	ENSP00000380942:p.Lys411*		O15086|Q6P526	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K392*	ENST00000397843.2	37	c.1174	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	A	43	9.858657	0.99281	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9678	14.3801	0.66905	1.0:0.0:0.0:0.0	.	.	.	.	X	411;392;308	.	ENSP00000349056:K392X	K	+	1	0	ARHGEF12	119818050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.365000	0.90108	2.185000	0.69588	0.528000	0.53228	AAA	ARHGEF12	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.363	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	A	NM_015313		120312840	1	no_errors	ENST00000356641	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	120312840	A	T	120312840	4	4	28	1	0	0	0	0	0	1	0	0	897	363	13	5	1289	5	ARHGEF12	11	120312840	Nonsense_Mutation	SNP	A	TCGA-C5-A1MQ-01A-11D-A14W-08	25511737	120312840	14693676	51	4161										
IGSF9B	22997	genome.wustl.edu	37	chr11	133791101	133791101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tgggcgtggtggcctctgccTcggcctctgccttggccacg	15	15	2	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr11:133791101T>C	ENST00000321016.8	-	18	2749	c.2519A>G	c.(2518-2520)gAg>gGg	p.E840G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E840G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	840					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCCTCTGCCTCGGCCTCTGC	0.642																																																	0													70	74	73					11																	133791101		2162	4255	6417	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2519A>G	11.37:g.133791101T>C	ENSP00000317980:p.Glu840Gly		G5EA26	Missense_Mutation	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.E840G	ENST00000321016.8	37	c.2519		11	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460592	0.43736	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.14;-0.2	4.47	4.47	0.54385	.	0.150077	0.30752	N	0.008954	T	0.45276	0.1334	N	0.08118	0	0.51482	D	0.999922	P	0.48998	0.918	B	0.44278	0.445	T	0.51980	-0.8636	10	0.44086	T	0.13	.	13.5869	0.61937	0.0:0.0:0.0:1.0	.	840	Q9UPX0	TUTLB_HUMAN	G	840;682	ENSP00000317980:E840G;ENSP00000436552:E682G	ENSP00000317980:E840G	E	-	2	0	IGSF9B	133296311	1.000000	0.71417	0.762000	0.31397	0.228000	0.25075	5.791000	0.69045	1.881000	0.54492	0.459000	0.35465	GAG	IGSF9B	-	NULL		0.642	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		T	XM_290502		133791101	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133791101	T	C	133791101	3	2	28	1	0	0	0	0	1	0	0	0	7626	1551	54	5	1538	5	IGSF9B	11	133791101	Missense_Mutation	SNP	T	TCGA-C5-A1MQ-01A-11D-A14W-08	13478261	133791101	1215415	52	4162										
CLEC7A	64581	genome.wustl.edu	37	chr12	10279189	10279189	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cctgtggttttgacagctttGgtaggagtcacactgtcttc	11	9	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr12:10279189G>T	ENST00000304084.8	-	3	475	c.321C>A	c.(319-321)acC>acA	p.T107T	CLEC7A_ENST00000298523.5_Intron|CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000533022.1_Silent_p.T107T	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	107					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGACAGCTTTGGTAGGAGTCA	0.448																																																	0													209	191	196					12																	10279189		1879	4112	5991	SO:0001819	synonymous_variant	64581			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.321C>A	12.37:g.10279189G>T			B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.T107	ENST00000304084.8	37	c.321	CCDS41753.1	12																																																																																			CLEC7A	-	NULL		0.448	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC7A	HGNC	protein_coding	OTTHUMT00000390772.1	G	NM_197954		10279189	-1	no_errors	ENST00000304084	ensembl	human	known	70_37	silent	SNP	0.828	T	T	10279189	G	T	10279189	2	4	28	1	0	0	0	0	0	0	0	1	3526	1335	47	4		4	CLEC7A	12	10279189	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		10279189	123572706	53	4163										
PRB4	5545	genome.wustl.edu	37	chr12	11461706	11461706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ctttcctggaggaggtggggGaccttgggactggtttcctc	16	9	0	0	rs12308381		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr12:11461706G>T	ENST00000535904.1	-	3	244	c.211C>A	c.(211-213)Ccc>Acc	p.P71T	PRB4_ENST00000445719.2_Missense_Mutation_p.P71T|PRB4_ENST00000279575.1_Missense_Mutation_p.P71T			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	92	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGAGGTGGGGGACCTTGGGAC	0.627										HNSCC(22;0.051)																																							0													263	287	279					12																	11461706		2203	4300	6503	SO:0001583	missense	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.211C>A	12.37:g.11461706G>T	ENSP00000442834:p.Pro71Thr		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.P71T	ENST00000535904.1	37	c.211	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	3.718	-0.058126	0.07317	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04083	3.71;3.71;3.71	0.956	-0.137	0.13469	.	.	.	.	.	T	0.06600	0.0169	L	0.57536	1.79	0.09310	N	1	D	0.55172	0.97	P	0.46275	0.51	T	0.29488	-1.0010	9	0.46703	T	0.11	.	3.9433	0.09338	0.0:0.0:0.5853:0.4147	rs12308381	71	E9PAL0	.	T	71	ENSP00000279575:P71T;ENSP00000442834:P71T;ENSP00000412740:P71T	ENSP00000279575:P71T	P	-	1	0	PRB4	11352973	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.059000	0.11731	-0.054000	0.13266	0.196000	0.17591	CCC	PRB4	-	NULL		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	G	NM_002723		11461706	-1	no_errors	ENST00000279575	ensembl	human	known	70_37	missense	SNP	0.001	T	T	11461706	G	T	11461706	3	4	28	1	0	0	0	0	1	0	0	0	12472	1174	41	3	536	3	PRB4	12	11461706	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	1182517	11461706	122390189	54	4164										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43826221	43826221	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	agacgatggccaaagttattCatacaataagattctcgaga	8	7	2	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr12:43826221C>G	ENST00000389420.3	-	21	2981	c.2982G>C	c.(2980-2982)atG>atC	p.M994I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.M148I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M994I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	994	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAAAGTTATTCATACAATAAG	0.403																																																	0													117	117	117					12																	43826221		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2982G>C	12.37:g.43826221C>G	ENSP00000374071:p.Met994Ile		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.M994I	ENST00000389420.3	37	c.2982	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	12.15	1.853012	0.32699	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.89	-8.19	0.01049	.	0.846204	0.10296	N	0.691768	T	0.27559	0.0677	N	0.20845	0.615	0.35940	D	0.83318	B;B	0.13145	0.002;0.007	B;B	0.22152	0.006;0.038	T	0.08310	-1.0728	10	0.27082	T	0.32	.	12.6524	0.56768	0.0:0.5745:0.3142:0.1113	.	994;148	P59510;E9PBD5	ATS20_HUMAN;.	I	994;160;148;994;994	ENSP00000374071:M994I;ENSP00000447427:M160I;ENSP00000378911:M148I;ENSP00000448341:M994I	ENSP00000374068:M994I	M	-	3	0	ADAMTS20	42112488	0.577000	0.26708	0.025000	0.17156	0.939000	0.58152	-0.150000	0.10189	-1.669000	0.01470	-0.302000	0.09304	ATG	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43826221	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	0.985	G	G	43826221	C	G	43826221	3	3	28	1	0	0	0	0	1	0	0	0	266	826	29	1	2825	1	ADAMTS20	12	43826221	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	32364515	43826221	90025674	55	4165										
PAN2	9924	genome.wustl.edu	37	chr12	56720435	56720435	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	agagttggcagcaggccaatCagagagaagtgtgtcagtgg	16	6	2	3			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr12:56720435C>A	ENST00000425394.2	-	7	1604	c.1228G>T	c.(1228-1230)Gat>Tat	p.D410Y	PAN2_ENST00000440411.3_Missense_Mutation_p.D410Y|PAN2_ENST00000257931.5_Missense_Mutation_p.D410Y|PAN2_ENST00000548043.1_Missense_Mutation_p.D410Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GCAGGCCAATCAGAGAGAAGT	0.592																																																	0													53	47	49					12																	56720435		2203	4299	6502	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1228G>T	12.37:g.56720435C>A	ENSP00000401721:p.Asp410Tyr			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.D410Y	ENST00000425394.2	37	c.1228	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834456	0.71373	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.08	5.08	0.68730	.	0.051850	0.64402	D	0.000001	T	0.20659	0.0497	M	0.76574	2.34	0.80722	D	1	P;P;D	0.60160	0.843;0.716;0.987	P;B;P	0.55999	0.544;0.407;0.789	T	0.00119	-1.2032	10	0.48119	T	0.1	-21.3208	17.7745	0.88503	0.0:1.0:0.0:0.0	.	410;410;410	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	410	ENSP00000401721:D410Y;ENSP00000388231:D410Y;ENSP00000257931:D410Y;ENSP00000449861:D410Y	ENSP00000257931:D410Y	D	-	1	0	PAN2	55006702	1.000000	0.71417	0.848000	0.33437	0.990000	0.78478	7.193000	0.77780	2.803000	0.96430	0.585000	0.79938	GAT	PAN2	-	NULL		0.592	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	C	NM_014871		56720435	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56720435	C	A	56720435	3	1	28	1	0	0	0	0	1	0	0	0	11438	826	29	3	2460	3	PAN2	12	56720435	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	12894214	56720435	77131460	56	4166										
SLC16A7	9194	genome.wustl.edu	37	chr12	60168711	60168711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	taagtctaaaaataagactgGcaaaacagaagatgattcaa	7	5	2	4			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr12:60168711G>T	ENST00000261187.4	+	4	799	c.635G>T	c.(634-636)gGc>gTc	p.G212V	SLC16A7_ENST00000552432.1_Missense_Mutation_p.G212V|SLC16A7_ENST00000543448.1_Missense_Mutation_p.G113V|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G212V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G212V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	212					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	AATAAGACTGGCAAAACAGAA	0.373																																																	0													37	37	37					12																	60168711		2203	4300	6503	SO:0001583	missense	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.635G>T	12.37:g.60168711G>T	ENSP00000261187:p.Gly212Val		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G212V	ENST00000261187.4	37	c.635	CCDS8961.1	12	.	.	.	.	.	.	.	.	.	.	G	0.583	-0.836054	0.02713	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.76	-4.94	0.03057	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.676040	0.00735	N	0.000973	T	0.30947	0.0781	N	0.19112	0.55	0.09310	N	1	B	0.19583	0.037	B	0.22152	0.038	T	0.05289	-1.0894	9	.	.	.	.	0.7758	0.01032	0.4018:0.1946:0.2062:0.1974	.	212	O60669	MOT2_HUMAN	V	212;212;212;212;212;113;97	ENSP00000449547:G212V;ENSP00000448071:G212V;ENSP00000448742:G212V;ENSP00000446722:G212V;ENSP00000261187:G212V;ENSP00000443731:G113V;ENSP00000447814:G97V	.	G	+	2	0	SLC16A7	58454978	0.420000	0.25457	0.000000	0.03702	0.000000	0.00434	1.465000	0.35299	-1.128000	0.02922	-4.482000	0.00005	GGC	SLC16A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.373	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A7	HGNC	protein_coding	OTTHUMT00000406587.1	G	NM_004731		60168711	1	no_errors	ENST00000261187	ensembl	human	known	70_37	missense	SNP	0.000	T	T	60168711	G	T	60168711	3	4	28	1	0	0	0	0	1	0	0	0	14443	1203	42	4	645	4	SLC16A7	12	60168711	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	3448276	60168711	73683184	57	4167										
ANO4	121601	genome.wustl.edu	37	chr12	101520733	101520733	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	agacctaagggatcgaatgaGaagagagaagtacttgattc	12	5	0	5			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr12:101520733G>A	ENST00000392977.3	+	27	2963	c.2753G>A	c.(2752-2754)aGa>aAa	p.R918K	ANO4_ENST00000299222.9_Missense_Mutation_p.R438K|ANO4_ENST00000550015.1_Missense_Mutation_p.R438K|ANO4_ENST00000392979.3_Missense_Mutation_p.R883K			Q32M45	ANO4_HUMAN	anoctamin 4	918					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GATCGAATGAGAAGAGAGAAG	0.433										HNSCC(74;0.22)																																							0													117	100	106					12																	101520733		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2753G>A	12.37:g.101520733G>A	ENSP00000376703:p.Arg918Lys		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.R918K	ENST00000392977.3	37	c.2753		12	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435648	0.25813	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	N	0.10645	0.015	0.50813	D	0.999892	D;P;D	0.63880	0.993;0.855;0.982	D;P;D	0.77557	0.99;0.826;0.916	T	0.47959	-0.9076	10	0.02654	T	1	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	438;918;883	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	K	883;438;918;438	ENSP00000376705:R883K;ENSP00000299222:R438K;ENSP00000376703:R918K;ENSP00000450192:R438K	ENSP00000299222:R438K	R	+	2	0	ANO4	100044864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.005000	0.88553	2.769000	0.95229	0.655000	0.94253	AGA	ANO4	-	pfam_Anoctamin		0.433	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	G	NM_178826		101520733	1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101520733	G	A	101520733	3	1	28	1	0	0	0	0	1	0	0	0	699	942	33	1	2746	1	ANO4	12	101520733	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	41352022	101520733	32331162	58	4168										
KCTD12	115207	genome.wustl.edu	37	chr13	77460014	77460014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	cgcaggtaatccaggatgtaGcggaagaggaagccgtcccg	15	10	0	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr13:77460014G>A	ENST00000377474.2	-	1	511	c.270C>T	c.(268-270)cgC>cgT	p.R90R	KCTD12_ENST00000317765.2_Silent_p.R90R|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	90					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGGATGTAGCGGAAGAGGA	0.657																																																	0													21	18	19					13																	77460014		2147	4204	6351	SO:0001819	synonymous_variant	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.270C>T	13.37:g.77460014G>A				Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R90	ENST00000377474.2	37	c.270	CCDS9455.1	13																																																																																			KCTD12	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.657	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD12	HGNC	protein_coding	OTTHUMT00000045309.2	G	NM_138444		77460014	-1	no_errors	ENST00000317765	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77460014	G	A	77460014	2	1	28	1	0	0	0	0	0	0	0	1	8119	958	34	4		4	KCTD12	13	77460014	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		77460014	37709864	59	4169										
BRF1	2972	genome.wustl.edu	37	chr14	105684015	105684015	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ctgcccccgccggcgctgctGaggccccggagcacgctata	13	18	0	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr14:105684015G>A	ENST00000546474.1	-	15	16597	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	BRF1_ENST00000379937.2_Silent_p.L519L|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Silent_p.L342L|BRF1_ENST00000446501.2_Silent_p.L308L|BRF1_ENST00000440513.3_Silent_p.L453L|BRF1_ENST00000547530.1_Silent_p.L72L|BRF1_ENST00000327359.3_Silent_p.L431L	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	546					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CGGCGCTGCTGAGGCCCCGGA	0.632																																																	0													44	41	42					14																	105684015		2203	4300	6503	SO:0001819	synonymous_variant	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1638C>T	14.37:g.105684015G>A			B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.L546	ENST00000546474.1	37	c.1638	CCDS10001.1	14																																																																																			BRF1	-	pfam_BRF1_TBP-bd		0.632	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	G	NM_001519		105684015	-1	no_errors	ENST00000546474	ensembl	human	known	70_37	silent	SNP	0.126	A	A	105684015	G	A	105684015	2	1	28	1	0	0	0	0	0	0	0	1	1513	1277	45	1		1	BRF1	14	105684015	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		105684015	1665525	60	4170										
SPTBN5	51332	genome.wustl.edu	37	chr15	42167077	42167077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ggtctcttccaggatggccgGggaggcggccatgccatggg	18	11	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr15:42167077G>T	ENST00000320955.6	-	23	4692	c.4465C>A	c.(4465-4467)Ccg>Acg	p.P1489T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1489					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGATGGCCGGGGAGGCGGCC	0.632																																																	0													30	35	33					15																	42167077		1963	4124	6087	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4465C>A	15.37:g.42167077G>T	ENSP00000317790:p.Pro1489Thr			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.P1489T	ENST00000320955.6	37	c.4465		15	.	.	.	.	.	.	.	.	.	.	.	12.57	1.977348	0.34848	.	.	ENSG00000137877	ENST00000320955	T	0.34859	1.34	4.77	1.55	0.23275	.	0.350809	0.26328	N	0.025013	T	0.16599	0.0399	N	0.08118	0	0.19300	N	0.999977	B	0.15141	0.012	B	0.17722	0.019	T	0.16837	-1.0389	10	0.35671	T	0.21	.	7.1558	0.25637	0.0978:0.3302:0.572:0.0	.	1489	Q9NRC6	SPTN5_HUMAN	T	1489	ENSP00000317790:P1489T	ENSP00000317790:P1489T	P	-	1	0	SPTBN5	39954369	0.997000	0.39634	0.043000	0.18650	0.027000	0.11550	1.884000	0.39668	0.386000	0.24997	0.556000	0.70494	CCG	SPTBN5	-	smart_Spectrin/alpha-actinin		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42167077	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.961	T	T	42167077	G	T	42167077	3	4	28	1	0	0	0	0	1	0	0	0	15152	1232	43	4	6743	4	SPTBN5	15	42167077	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		42167077	60364315	61	4171										
TMEM202	338949	genome.wustl.edu	37	chr15	72698977	72698977	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tccagggccttctttctcatCtctgtctttaccatacttac	4	14	4	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr15:72698977C>A	ENST00000341689.3	+	3	426	c.372C>A	c.(370-372)atC>atA	p.I124I	TMEM202_ENST00000567679.1_Missense_Mutation_p.S39Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	124						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCTTTCTCATCTCTGTCTTTA	0.473																																																	0													178	157	164					15																	72698977		2199	4297	6496	SO:0001819	synonymous_variant	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.372C>A	15.37:g.72698977C>A				Missense_Mutation	SNP	NULL	p.S39Y	ENST00000341689.3	37	c.116	CCDS32287.1	15																																																																																			TMEM202	-	NULL		0.473	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	C	NM_001080462		72698977	1	no_errors	ENST00000568167	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72698977	C	A	72698977	2	1	28	1	0	0	0	0	0	0	0	1	16157	903	32	3		3	TMEM202	15	72698977	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	30531900	72698977	29832415	62	4172										
CRTC3	64784	genome.wustl.edu	37	chr15	91083312	91083312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	caactgcgccttacacagtaCcatggaggatccttaccaaa	7	13	0	0	rs374582569		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr15:91083312C>T	ENST00000268184.6	+	2	178	c.174C>T	c.(172-174)taC>taT	p.Y58Y	CRTC3_ENST00000560098.1_Silent_p.Y58Y|CRTC3_ENST00000420329.2_Silent_p.Y58Y|CRTC3_ENST00000558619.1_3'UTR			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	58	Required for interaction with HTLV-1 TAX.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTACACAGTACCATGGAGGAT	0.448			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													112	103	106					15																	91083312		2198	4298	6496	SO:0001819	synonymous_variant	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.174C>T	15.37:g.91083312C>T			Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	NULL	p.Y58	ENST00000268184.6	37	c.174	CCDS32331.1	15																																																																																			CRTC3	-	NULL		0.448	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	C	NM_022769		91083312	1	no_errors	ENST00000268184	ensembl	human	known	70_37	silent	SNP	1.000	T	T	91083312	C	T	91083312	2	4	28	1	0	0	0	0	0	0	0	1	3906	518	18	4		4	CRTC3	15	91083312	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	18384335	91083312	11448080	63	4173										
BAIAP3	8938	genome.wustl.edu	37	chr16	1392980	1392980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ccatcctctgcctgcacggaGcccagagcaacctgtcaccc	8	19	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr16:1392980G>A	ENST00000324385.5	+	14	1491	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	BAIAP3_ENST00000397488.2_Missense_Mutation_p.A427T|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A427T|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A374T|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A387T|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A410T|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A382T	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	445					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCTGCACGGAGCCCAGAGCAA	0.687																																																	0													40	37	38					16																	1392980		2199	4297	6496	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1333G>A	16.37:g.1392980G>A	ENSP00000324510:p.Ala445Thr		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.A445T	ENST00000324385.5	37	c.1333	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475603	0.26511	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000440627;ENST00000421665	T;T;T;T;T	0.71341	-0.55;-0.56;-0.56;-0.56;-0.55	4.74	0.499	0.16914	.	0.591362	0.17409	N	0.175244	T	0.46600	0.1401	N	0.11064	0.09	0.25621	N	0.986408	B;B;B;B	0.15473	0.013;0.006;0.013;0.006	B;B;B;B	0.14023	0.01;0.006;0.006;0.005	T	0.34054	-0.9844	10	0.34782	T	0.22	-15.722	8.3323	0.32193	0.3496:0.0:0.6504:0.0	.	374;387;445;427	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	T	410;427;445;427;51;374	ENSP00000407242:A410T;ENSP00000380625:A427T;ENSP00000324510:A445T;ENSP00000380626:A427T;ENSP00000409533:A374T	ENSP00000324510:A445T	A	+	1	0	BAIAP3	1332981	0.127000	0.22367	0.793000	0.32043	0.661000	0.39034	1.002000	0.29796	0.429000	0.26202	0.591000	0.81541	GCC	BAIAP3	-	NULL		0.687	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1392980	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.758	A	A	1392980	G	A	1392980	3	1	28	1	0	0	0	0	1	0	0	0	1305	971	34	4	1387	4	BAIAP3	16	1392980	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		1392980	88961773	64	4174										
COQ9	57017	genome.wustl.edu	37	chr16	57486731	57486731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aggtatacagaccagggcggCgaggaggaggaggactatga	18	6	0	2	rs376613524		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr16:57486731C>T	ENST00000262507.6	+	3	330	c.261C>T	c.(259-261)ggC>ggT	p.G87G	COQ9_ENST00000567072.1_Silent_p.G87G|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Silent_p.G87G	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	87					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						ACCAGGGCGGCGAGGAGGAGG	0.582																																																	0								C		2,4394	4.2+/-10.8	0,2,2196	124	107	113		261	-10.4	0	16		113	0,8600		0,0,4300	no	coding-synonymous	COQ9	NM_020312.3		0,2,6496	TT,TC,CC		0.0,0.0455,0.0154		87/319	57486731	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	57017			BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.261C>T	16.37:g.57486731C>T			A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Silent	SNP	pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9	p.G87	ENST00000262507.6	37	c.261	CCDS32459.1	16																																																																																			COQ9	-	NULL		0.582	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ9	HGNC	protein_coding	OTTHUMT00000432598.3	C	NM_020312		57486731	1	no_errors	ENST00000262507	ensembl	human	known	70_37	silent	SNP	0.002	T	T	57486731	C	T	57486731	2	4	28	1	0	0	0	0	0	0	0	1	3756	755	27	2		2	COQ9	16	57486731	Silent	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	56093751	57486731	32868022	65	4175										
B3GNT9	80262	genome.wustl.edu	37	chr16	67183555	67183555	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gccggataggcgggcaggccGtacacggcctcggggatgta	18	11	0	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr16:67183555G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Silent_p.Y278Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGGGCAGGCCGTACACGGCCT	0.697																																																	0													7	9	8					16																	67183555		1978	4104	6082	SO:0001628	intergenic_variant	84752			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183555G>A			Q9HA86	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.Y278	ENST00000219139.3	37	c.834	CCDS10828.1	16																																																																																			B3GNT9	-	pfam_Glyco_trans_31,pfam_Fringe-like		0.697	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT9	HGNC	protein_coding	OTTHUMT00000268829.2	G	NM_025187		67183555	-1	no_errors	ENST00000449549	ensembl	human	known	70_37	silent	SNP	0.873	A	A	67183555	G	A	67183555	1	1	28	0	1	0	0	0	0	0	0	0	1265	1140	40	2		2	B3GNT9	16	67183555	IGR	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	9696824	67183555	23171198	66	4176										
DDX19A	55308	genome.wustl.edu	37	chr16	70390092	70390092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	acacaaaccaagtggaagtcCtgcaacgggatccaaactcc	8	13	0	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr16:70390092C>A	ENST00000302243.7	+	4	398	c.235C>A	c.(235-237)Ctg>Atg	p.L79M	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000443119.2_5'Flank|DDX19A_ENST00000417604.2_Missense_Mutation_p.L79M	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	79	N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGTGGAAGTCCTGCAACGGGA	0.493																																																	0													246	225	232					16																	70390092		2198	4300	6498	SO:0001583	missense	55308			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.235C>A	16.37:g.70390092C>A	ENSP00000306117:p.Leu79Met		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L79M	ENST00000302243.7	37	c.235	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458017	0.84317	.	.	ENSG00000168872	ENST00000302243;ENST00000417604	T;T	0.03982	3.96;3.74	5.51	4.56	0.56223	.	0.141869	0.49305	D	0.000157	T	0.14874	0.0359	M	0.63208	1.945	0.80722	D	1	B;P	0.48764	0.116;0.915	B;P	0.58928	0.101;0.848	T	0.00374	-1.1780	10	0.52906	T	0.07	.	12.2012	0.54326	0.0:0.9168:0.0:0.0832	.	79;79	B4DS24;Q9NUU7	.;DD19A_HUMAN	M	79	ENSP00000306117:L79M;ENSP00000410243:L79M	ENSP00000306117:L79M	L	+	1	2	DDX19A	68947593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.741000	0.55090	1.470000	0.48102	0.655000	0.94253	CTG	DDX19A	-	NULL		0.493	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	C	NM_018332		70390092	1	no_errors	ENST00000302243	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70390092	C	A	70390092	3	1	28	1	0	0	0	0	1	0	0	0	4351	680	24	4	249	4	DDX19A	16	70390092	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	3206537	70390092	19964661	67	4177										
MYH3	4621	genome.wustl.edu	37	chr17	10541420	10541420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tcgatctccagcttgaactcGctcttctccttctccagctt	5	16	4	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr17:10541420G>A	ENST00000583535.1	-	27	3756	c.3669C>T	c.(3667-3669)agC>agT	p.S1223S	MYH3_ENST00000226209.7_Silent_p.S1223S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1223					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTTGAACTCGCTCTTCTCCT	0.582																																																	0													111	97	101					17																	10541420		2203	4300	6503	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3669C>T	17.37:g.10541420G>A			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1223	ENST00000583535.1	37	c.3669	CCDS11157.1	17																																																																																			MYH3	-	pfam_Myosin_tail,superfamily_Prefoldin		0.582	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10541420	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	silent	SNP	0.998	A	A	10541420	G	A	10541420	2	1	28	1	0	0	0	0	0	0	0	1	10059	1078	38	2		2	MYH3	17	10541420	Silent	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		10541420	70653790	68	4178										
MYO15A	51168	genome.wustl.edu	37	chr17	18023480	18023480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ccttccgcctgcccagcgccGccttcttcgagcagcaaggc	10	19	1	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr17:18023480G>A	ENST00000205890.5	+	2	1704	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	456					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCCAGCGCCGCCTTCTTCGA	0.647																																																	0													34	41	39					17																	18023480		2128	4225	6353	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1366G>A	17.37:g.18023480G>A	ENSP00000205890:p.Ala456Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A456T	ENST00000205890.5	37	c.1366	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176966	0.57692	.	.	ENSG00000091536	ENST00000205890	T	0.32515	1.45	5.4	2.12	0.27331	.	.	.	.	.	T	0.17746	0.0426	N	0.24115	0.695	0.39996	D	0.975108	B	0.13594	0.008	B	0.04013	0.001	T	0.08086	-1.0739	9	0.66056	D	0.02	.	4.4772	0.11750	0.194:0.0:0.5273:0.2786	.	456	Q9UKN7	MYO15_HUMAN	T	456	ENSP00000205890:A456T	ENSP00000205890:A456T	A	+	1	0	MYO15A	17964205	0.922000	0.31269	0.534000	0.28014	0.849000	0.48306	1.407000	0.34657	0.665000	0.31066	-0.254000	0.11334	GCC	MYO15A	-	NULL		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18023480	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.293	A	A	18023480	G	A	18023480	3	1	28	1	0	0	0	0	1	0	0	0	10086	1087	38	2	1368	2	MYO15A	17	18023480	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	7482060	18023480	63171730	69	4179										
FAM83G	644815	genome.wustl.edu	37	chr17	18882969	18882969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	aagaactcagttcccccgctGctccgcactctgagattctg	8	15	3	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr17:18882969G>T	ENST00000388995.6	-	4	931	c.708C>A	c.(706-708)agC>agA	p.S236R	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S236R|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S236R|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	236					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCCCCCGCTGCTCCGCACTC	0.597																																																	0													79	92	88					17																	18882969		2017	4174	6191	SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.708C>A	17.37:g.18882969G>T	ENSP00000373647:p.Ser236Arg		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.S236R	ENST00000388995.6	37	c.708	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420375	0.42918	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.13657	2.57;2.57	5.54	4.57	0.56435	.	0.137010	0.64402	D	0.000003	T	0.34948	0.0915	M	0.77486	2.375	0.43230	D	0.995123	D	0.76494	0.999	D	0.72982	0.979	T	0.05550	-1.0878	10	0.72032	D	0.01	-30.7527	10.2471	0.43347	0.0736:0.1376:0.7888:0.0	.	236	A6ND36	FA83G_HUMAN	R	236	ENSP00000373647:S236R;ENSP00000343279:S236R	ENSP00000343279:S236R	S	-	3	2	FAM83G	18823694	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.093000	0.57714	2.606000	0.88127	0.655000	0.94253	AGC	FAM83G	-	pfam_DUF1669		0.597	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	G			18882969	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18882969	G	T	18882969	3	4	28	1	0	0	0	0	1	0	0	0	5657	1310	46	4	1775	4	FAM83G	17	18882969	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	859489	18882969	62312241	70	4180										
ACLY	47	genome.wustl.edu	37	chr17	40069970	40069970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	agtggaggcagggctcacctGgctgagcagccaggggtggt	19	9	1	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr17:40069970G>T	ENST00000352035.2	-	2	287	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	ACLY_ENST00000537919.1_Missense_Mutation_p.Q53K|ACLY_ENST00000590151.1_Missense_Mutation_p.Q53K|ACLY_ENST00000353196.1_Missense_Mutation_p.Q53K|ACLY_ENST00000393896.2_Missense_Mutation_p.Q53K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	53	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGGCTCACCTGGCTGAGCAGC	0.592																																					Colon(64;807 1396 15971 30971)												0													70	63	65					17																	40069970		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.157C>A	17.37:g.40069970G>T	ENSP00000253792:p.Gln53Lys		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.Q53K	ENST00000352035.2	37	c.157	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765860	0.31228	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.68624	0.1;0.1;-0.34;0.1	5.49	4.46	0.54185	ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.173246	0.50627	D	0.000103	T	0.42291	0.1196	N	0.04508	-0.205	0.42098	D	0.991328	B;B;B;B;B	0.13145	0.001;0.007;0.0;0.0;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.001;0.0;0.001	T	0.35822	-0.9773	10	0.10377	T	0.69	.	15.4018	0.74845	0.0:0.2153:0.7847:0.0	.	53;107;107;53;53	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	K	53;107;53;53;53	ENSP00000253792:Q53K;ENSP00000345398:Q53K;ENSP00000445349:Q53K;ENSP00000377474:Q53K	ENSP00000253792:Q53K	Q	-	1	0	ACLY	37323496	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.517000	0.53443	2.735000	0.93741	0.563000	0.77884	CAG	ACLY	-	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase		0.592	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	G	NM_001096		40069970	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40069970	G	T	40069970	3	4	28	1	0	0	0	0	1	0	0	0	143	1357	47	4	3260	4	ACLY	17	40069970	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	21187001	40069970	41125240	71	4181										
BCL3	602	genome.wustl.edu	37	chr19	45261992	45261992	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ttcctacaggtcatcgacatCctgagggggaaggccacccg	12	13	1	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr19:45261992C>G	ENST00000164227.5	+	8	1315	c.1071C>G	c.(1069-1071)atC>atG	p.I357M		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	357					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TCATCGACATCCTGAGGGGGA	0.652			T	IGH@	CLL																																			Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0													40	36	38					19																	45261992		2198	4297	6495	SO:0001583	missense	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1071C>G	19.37:g.45261992C>G	ENSP00000164227:p.Ile357Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I357M	ENST00000164227.5	37	c.1071	CCDS12642.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.977854|2.977854	0.53720|0.53720	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000164227|ENST00000444487	T|.	0.40756|.	1.02|.	4.15|4.15	1.9|1.9	0.25705|0.25705	Ankyrin repeat-containing domain (3);|.	0.296137|.	0.23608|.	N|.	0.046375|.	T|T	0.38161|0.38161	0.1030|0.1030	L|L	0.51853|0.51853	1.615|1.615	0.26611|0.26611	N|N	0.972849|0.972849	D|.	0.56035|.	0.974|.	P|.	0.51974|.	0.686|.	T|T	0.29336|0.29336	-1.0015|-1.0015	10|5	0.44086|.	T|.	0.13|.	-0.7938|-0.7938	4.876|4.876	0.13656|0.13656	0.2097:0.6748:0.0:0.1155|0.2097:0.6748:0.0:0.1155	.|.	357|.	P20749|.	BCL3_HUMAN|.	M|A	357|261	ENSP00000164227:I357M|.	ENSP00000164227:I357M|.	I|P	+|+	3|1	3|0	BCL3|BCL3	49953832|49953832	0.999000|0.999000	0.42202|0.42202	0.883000|0.883000	0.34634|0.34634	0.961000|0.961000	0.63080|0.63080	1.123000|1.123000	0.31308|0.31308	0.200000|0.200000	0.20447|0.20447	0.491000|0.491000	0.48974|0.48974	ATC|CCT	BCL3	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.652	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	HGNC	protein_coding	OTTHUMT00000322976.1	C	NM_005178		45261992	1	no_errors	ENST00000164227	ensembl	human	known	70_37	missense	SNP	0.972	G	G	45261992	C	G	45261992	3	3	28	1	0	0	0	0	1	0	0	0	1376	845	30	1	1101	1	BCL3	19	45261992	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08		45261992	13866991	72	4182										
DHX34	9704	genome.wustl.edu	37	chr19	47865903	47865903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	atgatgccttcgccccctacCccgtcccagaaattcggagg	9	16	0	2			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr19:47865903C>A	ENST00000328771.4	+	6	1895	c.1546C>A	c.(1546-1548)Ccc>Acc	p.P516T	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	516	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCCCCCTACCCCGTCCCAGA	0.652																																																	0													22	22	22					19																	47865903		2195	4293	6488	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1546C>A	19.37:g.47865903C>A	ENSP00000331907:p.Pro516Thr		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P516T	ENST00000328771.4	37	c.1546	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	C	0.997	-0.692228	0.03303	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02236	4.38	5.6	4.55	0.56014	Helicase, C-terminal (1);	0.090110	0.47093	D	0.000248	T	0.01029	0.0034	N	0.00972	-1.085	0.58432	D	0.999999	B	0.24576	0.106	B	0.23150	0.044	T	0.55276	-0.8166	10	0.08381	T	0.77	-13.2604	15.1593	0.72771	0.0:0.8424:0.1576:0.0	.	516	Q14147	DHX34_HUMAN	T	516;431	ENSP00000331907:P516T	ENSP00000257252:P431T	P	+	1	0	DHX34	52557747	0.997000	0.39634	0.954000	0.39281	0.067000	0.16453	3.004000	0.49513	1.327000	0.45338	0.561000	0.74099	CCC	DHX34	-	pfscan_Helicase_C		0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	C	NM_014681		47865903	1	no_errors	ENST00000328771	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47865903	C	A	47865903	3	1	28	1	0	0	0	0	1	0	0	0	4517	623	22	4	1564	4	DHX34	19	47865903	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	2603911	47865903	11263080	73	4183										
FGF21	26291	genome.wustl.edu	37	chr19	49261353	49261353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	tcgcttcctgccactaccagGcctgccccccgcactcccgg	8	22	0	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr19:49261353G>T	ENST00000593756.1	+	4	1078	c.506G>T	c.(505-507)gGc>gTc	p.G169V	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Missense_Mutation_p.G169V			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	169					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCACTACCAGGCCTGCCCCCC	0.716																																																	0													15	21	19					19																	49261353		2177	4276	6453	SO:0001583	missense	26291			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.506G>T	19.37:g.49261353G>T	ENSP00000471477:p.Gly169Val		Q8N683	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF	p.G169V	ENST00000593756.1	37	c.506	CCDS12734.1	19	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295922	0.40594	.	.	ENSG00000105550	ENST00000222157	D	0.84800	-1.9	4.44	4.44	0.53790	.	0.312361	0.30723	N	0.009005	D	0.84293	0.5440	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.69654	0.965	T	0.79607	-0.1733	10	0.15499	T	0.54	-38.8259	12.7558	0.57335	0.0:0.0:1.0:0.0	.	169	Q9NSA1	FGF21_HUMAN	V	169	ENSP00000222157:G169V	ENSP00000222157:G169V	G	+	2	0	FGF21	53953165	0.939000	0.31865	0.859000	0.33776	0.137000	0.21094	2.261000	0.43276	2.464000	0.83262	0.511000	0.50034	GGC	FGF21	-	pirsf_Fibroblast_GF_15/19/21		0.716	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF21	HGNC	protein_coding	OTTHUMT00000466200.1	G			49261353	1	no_errors	ENST00000222157	ensembl	human	known	70_37	missense	SNP	0.962	T	T	49261353	G	T	49261353	3	4	28	1	0	0	0	0	1	0	0	0	5868	1203	42	4	516	4	FGF21	19	49261353	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	1395450	49261353	9867630	74	4184										
MYADM	91663	genome.wustl.edu	37	chr19	54376790	54376790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ccctttttgcagccatgccaGtgacggtaacccgcaccacc	8	17	0	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr19:54376790G>A	ENST00000391769.2	+	3	287	c.7G>A	c.(7-9)Gtg>Atg	p.V3M	MYADM_ENST00000391768.2_Missense_Mutation_p.V3M|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Missense_Mutation_p.V3M|MYADM_ENST00000391771.1_Missense_Mutation_p.V3M|MYADM_ENST00000336967.3_Missense_Mutation_p.V3M	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	3					establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AGCCATGCCAGTGACGGTAAC	0.557											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													68	57	61					19																	54376790		2203	4299	6502	SO:0001583	missense	91663			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.7G>A	19.37:g.54376790G>A	ENSP00000375649:p.Val3Met	999	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.V3M	ENST00000391769.2	37	c.7	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172772	0.21704	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768;ENST00000414489	.	.	.	3.9	2.85	0.33270	.	0.676215	0.11544	U	0.553443	T	0.14270	0.0345	N	0.08118	0	0.09310	N	0.999999	P	0.50617	0.937	B	0.39258	0.295	T	0.04650	-1.0936	9	0.66056	D	0.02	-13.2712	6.7542	0.23503	0.1304:0.0:0.8696:0.0	.	3	Q96S97	MYADM_HUMAN	M	3	.	ENSP00000337222:V3M	V	+	1	0	MYADM	59068602	1.000000	0.71417	0.236000	0.24074	0.131000	0.20780	3.027000	0.49697	1.916000	0.55485	0.313000	0.20887	GTG	MYADM	-	NULL		0.557	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1	G	NM_138373		54376790	1	no_errors	ENST00000336967	ensembl	human	known	70_37	missense	SNP	0.258	A	A	54376790	G	A	54376790	3	1	28	1	0	0	0	0	1	0	0	0	10029	1029	36	4	9	4	MYADM	19	54376790	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	5115437	54376790	4752193	75	4185										
P2RX6	9127	genome.wustl.edu	37	chr22	21380313	21380313	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ctctcaggcagggaagttcgGgctcatccccacggccgtca	12	15	3	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr22:21380313G>C	ENST00000413302.2	+	10	1146	c.998G>C	c.(997-999)gGg>gCg	p.G333A	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.G280A|P2RX6_ENST00000336296.2_Missense_Mutation_p.G323A|P2RX6_ENST00000401443.1_Missense_Mutation_p.G307A			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	333					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										GGGAAGTTCGGGCTCATCCCC	0.657																																																	0													81	58	66					22																	21380313		2203	4299	6502	SO:0001583	missense	9127				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.998G>C	22.37:g.21380313G>C	ENSP00000416193:p.Gly333Ala		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.G333A	ENST00000413302.2	37	c.998	CCDS13788.2	22	.	.	.	.	.	.	.	.	.	.	G	11.46	1.643969	0.29246	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.07	4.03	0.46877	.	0.110360	0.40222	N	0.001143	T	0.05547	0.0146	L	0.38838	1.175	0.27400	N	0.95487	B;B	0.27997	0.117;0.197	B;B	0.30716	0.103;0.119	T	0.19257	-1.0311	10	0.52906	T	0.07	-28.6049	11.3651	0.49666	0.0:0.1914:0.8086:0.0	.	333;307	O15547;F6V3D7	P2RX6_HUMAN;.	A	333;323;307;280	ENSP00000416193:G333A;ENSP00000338797:G323A;ENSP00000385309:G307A;ENSP00000408088:G280A	ENSP00000338797:G323A	G	+	2	0	P2RX6	19710313	0.124000	0.22315	0.979000	0.43373	0.248000	0.25809	1.464000	0.35288	1.462000	0.47948	0.655000	0.94253	GGG	P2RX6	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.657	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	G	NM_005446		21380313	1	no_errors	ENST00000413302	ensembl	human	known	70_37	missense	SNP	0.909	C	C	21380313	G	C	21380313	3	2	28	1	0	0	0	0	1	0	0	0	11368	1232	43	4	1036	4	P2RX6	22	21380313	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08		21380313	29924253	76	4186										
LARGE	9215	genome.wustl.edu	37	chr22	33712207	33712207	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	ctcatagcacaggtcgtcctCgtccagctcagacagctgct	9	15	2	1			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chr22:33712207C>A	ENST00000354992.2	-	12	1886	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	LARGE_ENST00000337431.2_Nonsense_Mutation_p.E387*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.E387*|LARGE_ENST00000452586.2_Nonsense_Mutation_p.E238*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.E439*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.E439*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	439					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTCGTCCTCGTCCAGCTCA	0.612																																					Colon(70;397 1175 4573 19089 45288)												0													114	89	98					22																	33712207		2203	4300	6503	SO:0001587	stop_gained	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1315G>T	22.37:g.33712207C>A	ENSP00000347088:p.Glu439*		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Nonsense_Mutation	SNP	pfam_Glyco_trans_8	p.E439*	ENST00000354992.2	37	c.1315	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	38	7.152640	0.98099	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-3.4835	18.5547	0.91080	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;116;439;387;439;387;238;439	.	ENSP00000336636:E387X	E	-	1	0	LARGE	32042207	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.292000	0.78731	2.376000	0.81061	0.655000	0.94253	GAG	LARGE	-	NULL		0.612	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		33712207	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	33712207	C	A	33712207	4	1	28	1	0	0	0	0	0	1	0	0	8647	893	31	3	975	3	LARGE	22	33712207	Nonsense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08	12331894	33712207	17592359	77	4187										
TXLNG	55787	genome.wustl.edu	37	chrX	16859626	16859626	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	agaagctgtgcagggctcttCagacagaaaggaatgagctc	13	8	2	4			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chrX:16859626C>A	ENST00000380122.5	+	10	1385	c.1324C>A	c.(1324-1326)Cag>Aag	p.Q442K	TXLNG_ENST00000485153.1_3'UTR|TXLNG_ENST00000398155.4_Missense_Mutation_p.Q310K	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	442					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						CAGGGCTCTTCAGACAGAAAG	0.453																																																	0													67	60	63					X																	16859626		2203	4300	6503	SO:0001583	missense	55787			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1324C>A	X.37:g.16859626C>A	ENSP00000369465:p.Gln442Lys		Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	pfam_Taxilin_fam	p.Q442K	ENST00000380122.5	37	c.1324	CCDS14178.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368514	0.82463	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.50548	0.74;0.74	5.54	4.66	0.58398	.	0.065457	0.64402	D	0.000006	T	0.61098	0.2320	M	0.65677	2.01	0.80722	D	1	P;P	0.46395	0.839;0.877	P;P	0.54270	0.747;0.53	T	0.62637	-0.6812	10	0.49607	T	0.09	-15.8951	15.3862	0.74703	0.0:0.864:0.136:0.0	.	310;442	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	K	442;310	ENSP00000369465:Q442K;ENSP00000381222:Q310K	ENSP00000369465:Q442K	Q	+	1	0	TXLNG	16769547	1.000000	0.71417	0.885000	0.34714	0.901000	0.52897	3.843000	0.55865	1.059000	0.40554	0.513000	0.50165	CAG	TXLNG	-	pfam_Taxilin_fam		0.453	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1	C	NM_018360		16859626	1	no_errors	ENST00000380122	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16859626	C	A	16859626	3	1	28	1	0	0	0	0	1	0	0	0	16820	827	29	3	1362	3	TXLNG	23	16859626	Missense_Mutation	SNP	C	TCGA-C5-A1MQ-01A-11D-A14W-08		16859626	138410934	78	4188										
KIAA2022	340533	genome.wustl.edu	37	chrX	73962692	73962692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gattctcactcaaattcactGttgtctcactggcatccacc	5	14	4	0			TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chrX:73962692G>A	ENST00000055682.6	-	3	2311	c.1700C>T	c.(1699-1701)aCa>aTa	p.T567I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	567					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAAATTCACTGTTGTCTCACT	0.433																																																	0													141	117	125					X																	73962692		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1700C>T	X.37:g.73962692G>A	ENSP00000055682:p.Thr567Ile		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.T567I	ENST00000055682.6	37	c.1700	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466819	0.63625	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.34072	1.38;1.38	5.83	5.83	0.93111	.	0.049838	0.85682	D	0.000000	T	0.56587	0.1995	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56986	-0.7888	10	0.72032	D	0.01	-10.1494	19.1122	0.93321	0.0:0.0:1.0:0.0	.	567	Q5QGS0	K2022_HUMAN	I	567	ENSP00000362567:T567I;ENSP00000055682:T567I	ENSP00000055682:T567I	T	-	2	0	KIAA2022	73879417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.540000	0.82074	2.463000	0.83235	0.600000	0.82982	ACA	KIAA2022	-	NULL		0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	G	NM_001008537		73962692	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73962692	G	A	73962692	3	1	28	1	0	0	0	0	1	0	0	0	8289	1377	48	4	2858	4	KIAA2022	23	73962692	Missense_Mutation	SNP	G	TCGA-C5-A1MQ-01A-11D-A14W-08	57103066	73962692	81307868	79	4189										
ABCD1	215	genome.wustl.edu	37	chrX	153008476	153008476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151898734177215	12	0.00279465767687844	2.54652014652015	3.31047619047619	2.28308702791461	0.300844782491056	0.561191228877547	7	gtgactggaaggacgtcctgTcgggtggcgagaagcagaga	18	7	0	3	rs201774661		TCGA-C5-A1MQ-01A-11D-A14W-08	TCGA-C5-A1MQ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5091f550-7ae6-45c2-bceb-725cbf51852c	0499fa6b-957b-4b13-8979-a30ba4dcf1c8	g.chrX:153008476T>C	ENST00000218104.3	+	8	2215	c.1816T>C	c.(1816-1818)Tcg>Ccg	p.S606P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	606	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in ALD; decreased ATP-binding affinity). {ECO:0000269|PubMed:8040304}.|S -> P (in ALD; CALD, AMN and ALMD- types). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S606P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGTCCTGTCGGGTGGCGA	0.657																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM960043	ABCD1	M																																				SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1816T>C	X.37:g.153008476T>C	ENSP00000218104:p.Ser606Pro		Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.S606P	ENST00000218104.3	37	c.1816	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307005	0.81247	.	.	ENSG00000101986	ENST00000218104	D	0.99957	-8.99	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000009	D	0.99964	0.9986	H	0.99357	4.53	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	D	0.96145	0.9103	10	0.87932	D	0	-5.1669	13.4857	0.61364	0.0:0.0:0.0:1.0	.	606	P33897	ABCD1_HUMAN	P	606	ENSP00000218104:S606P	ENSP00000218104:S606P	S	+	1	0	ABCD1	152661670	1.000000	0.71417	0.058000	0.19502	0.765000	0.43378	5.967000	0.70403	1.827000	0.53221	0.350000	0.21858	TCG	ABCD1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	T	NM_000033		153008476	1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153008476	T	C	153008476	3	2	28	1	0	0	0	0	1	0	0	0	60	1667	58	5	1846	5	ABCD1	23	153008476	Missense_Mutation	SNP	T	TCGA-C5-A1MQ-01A-11D-A14W-08	79045784	153008476	2262084	80	4190										
TP73	7161	genome.wustl.edu	37	chr1	3639969	3639969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cgtggaaggcaataatctctCgcagtatgtggatgaccctg	12	9	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:3639969C>T	ENST00000378295.4	+	6	823	c.668C>T	c.(667-669)tCg>tTg	p.S223L	TP73_ENST00000378290.4_Missense_Mutation_p.S152L|TP73_ENST00000378285.1_Missense_Mutation_p.S174L|TP73_ENST00000378288.4_Missense_Mutation_p.S174L|TP73_ENST00000357733.3_Missense_Mutation_p.S223L|TP73_ENST00000603362.1_Missense_Mutation_p.S223L|TP73_ENST00000378280.1_Missense_Mutation_p.S174L|TP73_ENST00000346387.4_Missense_Mutation_p.S223L|TP73_ENST00000604074.1_Missense_Mutation_p.S223L|TP73_ENST00000604479.1_Missense_Mutation_p.S223L|TP73_ENST00000354437.4_Missense_Mutation_p.S223L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	223	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AATAATCTCTCGCAGTATGTG	0.637																																																	0													82	65	71					1																	3639969		2199	4292	6491	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.668C>T	1.37:g.3639969C>T	ENSP00000367545:p.Ser223Leu		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.S223L	ENST00000378295.4	37	c.668	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263560	0.39995	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	3.97	3.97	0.46021	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.177926	0.50627	D	0.000113	D	0.99321	0.9762	L	0.49778	1.585	0.25880	N	0.983606	D;P;P;P;B;P	0.69078	0.997;0.688;0.813;0.913;0.241;0.917	P;B;B;B;B;B	0.52554	0.702;0.103;0.183;0.255;0.067;0.394	D	0.97634	1.0144	10	0.59425	D	0.04	-7.647	13.9192	0.63921	0.0:1.0:0.0:0.0	.	174;174;174;174;223;223	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	223;223;223;223;174;174;174;152	ENSP00000367545:S223L;ENSP00000346423:S223L;ENSP00000350366:S223L;ENSP00000340740:S223L;ENSP00000367537:S174L;ENSP00000367534:S174L;ENSP00000367529:S174L;ENSP00000367539:S152L	ENSP00000340740:S223L	S	+	2	0	TP73	3629829	0.522000	0.26266	0.804000	0.32291	0.584000	0.36387	4.977000	0.63792	1.959000	0.56917	0.491000	0.48974	TCG	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.637	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3639969	1	no_errors	ENST00000378295	ensembl	human	known	70_37	missense	SNP	0.369	T	T	3639969	C	T	3639969	3	4	29	1	0	0	0	0	1	0	0	0	16424	893	31	1	729	1	TP73	1	3639969	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		3639969	245610652	1	4191										
CNR2	1269	genome.wustl.edu	37	chr1	24201626	24201626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gcaggtaggagactagtgctGagaggacccacatgatgccc	14	10	0	3			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:24201626G>A	ENST00000374472.4	-	2	643	c.482C>T	c.(481-483)tCa>tTa	p.S161L	CNR2_ENST00000536471.1_Missense_Mutation_p.S161L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	161					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GACTAGTGCTGAGAGGACCCA	0.587																																																	0													74	71	72					1																	24201626		2203	4300	6503	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.482C>T	1.37:g.24201626G>A	ENSP00000363596:p.Ser161Leu		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.S161L	ENST00000374472.4	37	c.482	CCDS245.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103431	0.56291	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.46819	0.86;0.86	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.246825	0.39475	N	0.001360	T	0.58637	0.2136	M	0.85041	2.73	0.36259	D	0.85442	B	0.29716	0.255	B	0.39935	0.314	T	0.69347	-0.5169	10	0.87932	D	0	.	10.4351	0.44430	0.074:0.1459:0.7801:0.0	.	161	P34972	CNR2_HUMAN	L	161	ENSP00000363596:S161L;ENSP00000442830:S161L	ENSP00000363596:S161L	S	-	2	0	CNR2	24074213	0.991000	0.36638	0.908000	0.35775	0.353000	0.29299	4.605000	0.61119	2.724000	0.93272	0.555000	0.69702	TCA	CNR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.587	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR2	HGNC	protein_coding	OTTHUMT00000038949.1	G	NM_001841		24201626	-1	no_errors	ENST00000374472	ensembl	human	known	70_37	missense	SNP	0.756	A	A	24201626	G	A	24201626	3	1	29	1	0	0	0	0	1	0	0	0	3637	1294	45	1	604	1	CNR2	1	24201626	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	20561657	24201626	225048995	2	4192										
HFM1	164045	genome.wustl.edu	37	chr1	91859873	91859873	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	atcagaaggaaaggcaaactGgaatttttgtgttagtgaaa	11	3	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:91859873G>A	ENST00000370425.3	-	4	369	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	91					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGGCAAACTGGAATTTTTGT	0.313																																																	0													71	67	69					1																	91859873		2202	4298	6500	SO:0001587	stop_gained	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.271C>T	1.37:g.91859873G>A	ENSP00000359454:p.Gln91*		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q91*	ENST00000370425.3	37	c.271	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566694	0.13560	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444;ENST00000455133	.	.	.	4.37	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.26463	N	0.975411	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.0787	0.25219	0.0:0.1695:0.4809:0.3496	.	.	.	.	X	91;124;49;91	.	ENSP00000359454:Q91X	Q	-	1	0	HFM1	91632461	0.886000	0.30341	0.045000	0.18777	0.018000	0.09664	0.656000	0.24948	0.053000	0.16036	-0.470000	0.05040	CAG	HFM1	-	NULL		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91859873	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	nonsense	SNP	0.303	A	A	91859873	G	A	91859873	4	1	29	1	0	0	0	0	0	1	0	0	7103	1357	47	4	4180	4	HFM1	1	91859873	Nonsense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	67658247	91859873	157390748	3	4193										
FMO5	2330	genome.wustl.edu	37	chr1	146672991	146672991	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cctcaaatatggcagctgtcTccgtgaattccttcacattt	6	12	3	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:146672991T>A	ENST00000254090.4	-	7	1314	c.926A>T	c.(925-927)gAg>gTg	p.E309V	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.E309V|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	309						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GGCAGCTGTCTCCGTGAATTC	0.453																																																	0													73	70	71					1																	146672991		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.926A>T	1.37:g.146672991T>A	ENSP00000254090:p.Glu309Val		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.E309V	ENST00000254090.4	37	c.926	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.464327	0.63513	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.62639	0.01;0.01	6.17	6.17	0.99709	.	0.151016	0.64402	D	0.000013	T	0.77391	0.4123	M	0.89414	3.03	0.80722	D	1	B;P	0.49447	0.058;0.924	B;D	0.63381	0.257;0.914	T	0.81185	-0.1048	9	.	.	.	-24.6886	14.7743	0.69713	0.0:0.0:0.0:1.0	.	309;309	P49326;C9JJD1	FMO5_HUMAN;.	V	309	ENSP00000416011:E309V;ENSP00000254090:E309V	.	E	-	2	0	FMO5	145139615	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.715000	0.54897	2.371000	0.80710	0.533000	0.62120	GAG	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	T	NM_001461		146672991	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146672991	T	A	146672991	3	1	29	1	0	0	0	0	1	0	0	0	5976	1551	54	5	830	5	FMO5	1	146672991	Missense_Mutation	SNP	T	TCGA-C5-A2LS-01A-22D-A22X-09	54813118	146672991	102577630	4	4194										
C1orf85	112770	genome.wustl.edu	37	chr1	156264186	156264186	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	aggctgccattggcaaaagtCctggtagggtcgttcatggg	15	8	1	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:156264186C>T	ENST00000362007.1	-	3	575	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	183					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGCAAAAGTCCTGGTAGGGT	0.507																																																	0													65	62	63					1																	156264186		2203	4300	6503	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.549G>A	1.37:g.156264186C>T			A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	NULL	p.R183	ENST00000362007.1	37	c.549	CCDS1139.1	1																																																																																			C1orf85	-	NULL		0.507	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	C	NM_144580		156264186	-1	no_errors	ENST00000362007	ensembl	human	known	70_37	silent	SNP	0.054	T	T	156264186	C	T	156264186	2	4	29	1	0	0	0	0	0	0	0	1	2067	854	30	1		1	C1orf85	1	156264186	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	9591195	156264186	92986435	5	4195										
LAMC2	3918	genome.wustl.edu	37	chr1	183177044	183177044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tgcaatgggaagtccaggcaGtgtatctttgatcgggaact	13	7	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:183177044G>C	ENST00000264144.4	+	2	173	c.108G>C	c.(106-108)caG>caC	p.Q36H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q36H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	36	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGTCCAGGCAGTGTATCTTTG	0.448																																																	0													161	155	157					1																	183177044		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.108G>C	1.37:g.183177044G>C	ENSP00000264144:p.Gln36His		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.Q36H	ENST00000264144.4	37	c.108	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888554	0.33348	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.62105	0.05;0.05	4.81	-3.86	0.04230	EGF-like, laminin (3);Growth factor, receptor (1);	0.269981	0.31554	N	0.007455	T	0.72732	0.3497	M	0.67625	2.065	0.44956	D	0.997972	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.98	T	0.72956	-0.4134	10	0.72032	D	0.01	.	15.2938	0.73888	0.3277:0.0:0.6723:0.0	.	36;36	Q13753;Q13753-2	LAMC2_HUMAN;.	H	36	ENSP00000432063:Q36H;ENSP00000264144:Q36H	ENSP00000264144:Q36H	Q	+	3	2	LAMC2	181443667	1.000000	0.71417	0.172000	0.22920	0.069000	0.16628	1.096000	0.30976	-1.198000	0.02669	-0.229000	0.12294	CAG	LAMC2	-	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin		0.448	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	G	NM_005562		183177044	1	no_errors	ENST00000264144	ensembl	human	known	70_37	missense	SNP	0.996	C	C	183177044	G	C	183177044	3	2	29	1	0	0	0	0	1	0	0	0	8635	1020	36	4	114	4	LAMC2	1	183177044	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	26912858	183177044	66073577	6	4196										
GLT25D2	23127	genome.wustl.edu	37	chr1	183947545	183947545	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tttcgcacttgctactcactCtggttcatccataggcctcc	6	15	3	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:183947545C>A	ENST00000361927.4	-	2	744	c.373G>T	c.(373-375)Gag>Tag	p.E125*	COLGALT2_ENST00000546159.1_Splice_Site_p.E125*	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	125					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GCTACTCACTCTGGTTCATCC	0.398																																																	0													180	159	166					1																	183947545		2203	4300	6503	SO:0001630	splice_region_variant	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.374+1G>T	1.37:g.183947545C>A			O60327|Q9BZR0	Nonsense_Mutation	SNP	pfam_Glyco_trans_25	p.E125*	ENST00000361927.4	37	c.373	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.488353	0.97607	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.06	1.85	0.25348	.	0.388897	0.28641	N	0.014637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-13.8243	15.4598	0.75346	0.0:0.4721:0.5279:0.0	.	.	.	.	X	125	.	ENSP00000354960:E125X	E	-	1	0	GLT25D2	182214168	0.798000	0.28890	0.652000	0.29579	0.605000	0.37080	1.150000	0.31639	0.599000	0.29845	0.650000	0.86243	GAG	GLT25D2	-	NULL		0.398	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D2	HGNC	protein_coding	OTTHUMT00000086128.1	C	NM_015101	Nonsense_Mutation	183947545	-1	no_errors	ENST00000361927	ensembl	human	known	70_37	nonsense	SNP	0.496	A	A	183947545	C	A	183947545	5	1	29	1	0	0	0	0	0	0	1	0	6486	927	32	3	1551	3	GLT25D2	1	183947545	Splice_Site	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	770501	183947545	65303076	7	4197										
KCNT2	343450	genome.wustl.edu	37	chr1	196295846	196295846	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tgtatcttaaaatatacttaCgggttatccaatagcagtac	6	7	1	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:196295846C>T	ENST00000294725.9	-	19	3192		c.e19+1		KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATATACTTACGGGTTATCCA	0.279																																																	0													49	50	49					1																	196295846		2202	4293	6495	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2276+1G>A	1.37:g.196295846C>T			Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	-	e19+1	ENST00000294725.9	37	c.2276+1	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784721	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194562469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.608000	0.88229	0.650000	0.86243	.	KCNT2	-	-		0.279	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	C	NM_198503	Intron	196295846	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	196295846	C	T	196295846	5	4	29	1	0	0	0	0	0	0	1	0	8112	550	19	2	1170	2	KCNT2	1	196295846	Splice_Site	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	12348301	196295846	52954775	8	4198										
OR2G2	81470	genome.wustl.edu	37	chr1	247752483	247752483	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	agtagatccagggaccagggCaagtttgtttctctcttcta	10	9	3	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:247752483C>A	ENST00000320065.1	+	1	822	c.822C>A	c.(820-822)ggC>ggA	p.G274G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGACCAGGGCAAGTTTGTTT	0.473																																																	0													142	137	139					1																	247752483		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.822C>A	1.37:g.247752483C>A			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G274	ENST00000320065.1	37	c.822	CCDS31092.1	1																																																																																			OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	C			247752483	1	no_errors	ENST00000320065	ensembl	human	known	70_37	silent	SNP	0.003	A	A	247752483	C	A	247752483	2	1	29	1	0	0	0	0	0	0	0	1	11022	697	25	4		4	OR2G2	1	247752483	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	51456637	247752483	1498138	9	4199										
ABCG8	64241	genome.wustl.edu	37	chr2	44101013	44101013	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	atgtcaatgaccatcggcttCctctattttggccatgggag	10	10	2	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:44101013C>T	ENST00000272286.2	+	9	1389	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	433	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCATCGGCTTCCTCTATTTTG	0.522																																																	0													240	234	236					2																	44101013		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1299C>T	2.37:g.44101013C>T			Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.F433	ENST00000272286.2	37	c.1299	CCDS1815.1	2																																																																																			ABCG8	-	pfam_ABC_2_trans		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44101013	1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44101013	C	T	44101013	2	4	29	1	0	0	0	0	0	0	0	1	72	854	30	1		1	ABCG8	2	44101013	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		44101013	199098360	10	4200										
TTC30A	92104	genome.wustl.edu	37	chr2	178483126	178483126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gttatccaggagaaggaaggCgacccgagtggcctccggat	15	10	0	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:178483126C>T	ENST00000355689.5	-	1	568	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	102					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AGAAGGAAGGCGACCCGAGTG	0.647																																																	0													29	31	30					2																	178483126		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.304G>A	2.37:g.178483126C>T	ENSP00000347915:p.Ala102Thr		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.A102T	ENST00000355689.5	37	c.304	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723765	0.15439	.	.	ENSG00000197557	ENST00000355689	T	0.78246	-1.16	6.03	3.24	0.37175	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.222050	0.50627	N	0.000102	T	0.61060	0.2317	L	0.28504	0.86	0.41306	D	0.987074	B	0.06786	0.001	B	0.06405	0.002	T	0.47935	-0.9078	10	0.23302	T	0.38	.	5.607	0.17385	0.128:0.6105:0.0:0.2615	.	102	Q86WT1	TT30A_HUMAN	T	102	ENSP00000347915:A102T	ENSP00000347915:A102T	A	-	1	0	TTC30A	178191372	0.734000	0.28142	0.979000	0.43373	0.411000	0.31082	1.194000	0.32174	0.422000	0.26005	-0.266000	0.10368	GCC	TTC30A	-	pfscan_TPR-contain_dom		0.647	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178483126	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.897	T	T	178483126	C	T	178483126	3	4	29	1	0	0	0	0	1	0	0	0	16729	768	27	2	1697	2	TTC30A	2	178483126	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	134382113	178483126	64716247	11	4201										
SLITRK3	22865	genome.wustl.edu	37	chr3	164906468	164906468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cgaccaccacccccacttccGccaccaccacctccaccatc	2	26	0	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr3:164906468G>A	ENST00000475390.1	-	2	2594	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	SLITRK3_ENST00000241274.3_Silent_p.G717G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	717	Poly-Gly.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ccccacttccgccaccaccac	0.572										HNSCC(40;0.11)																																							0													85	61	69					3																	164906468		2203	4300	6503	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2151C>T	3.37:g.164906468G>A			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G717	ENST00000475390.1	37	c.2151	CCDS3197.1	3																																																																																			SLITRK3	-	NULL		0.572	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	G	NM_014926		164906468	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	silent	SNP	0.570	A	A	164906468	G	A	164906468	2	1	29	1	0	0	0	0	0	0	0	1	14774	1074	38	2		2	SLITRK3	3	164906468	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		164906468	33115962	12	4202										
PCDHA1	56147	genome.wustl.edu	37	chr5	140165938	140165938	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cttctttggcttctgctcctCgcagcctgggaggtggggag	15	11	2	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr5:140165938C>T	ENST00000504120.2	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA1_ENST00000394633.3_Silent_p.L21L|PCDHA1_ENST00000378133.3_Silent_p.L21L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	21					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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGG	0.597																																																	0													54	67	63					5																	140165938		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.63C>T	5.37:g.140165938C>T			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L21	ENST00000504120.2	37	c.63	CCDS54913.1	5																																																																																			PCDHA1	-	NULL		0.597	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140165938	1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.000	T	T	140165938	C	T	140165938	2	4	29	1	0	0	0	0	0	0	0	1	11543	871	31	1		1	PCDHA1	5	140165938	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		140165938	40749322	13	4203										
PKHD1	5314	genome.wustl.edu	37	chr6	51732836	51732836	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gtcttccaaaattgctgcatGaggaaatggaaatgccacta	9	8	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:51732836G>T	ENST00000371117.3	-	48	7833	c.7558C>A	c.(7558-7560)Cat>Aat	p.H2520N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H2520N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2520					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.H2520Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATTGCTGCATGAGGAAATGGA	0.383																																																	1	Substitution - Missense(1)	ovary(1)											72	69	70					6																	51732836		2203	4299	6502	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7558C>A	6.37:g.51732836G>T	ENSP00000360158:p.His2520Asn		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.H2520N	ENST00000371117.3	37	c.7558	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495752	0.64186	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90069	-2.43;-2.61	5.67	4.8	0.61643	.	0.068571	0.64402	D	0.000011	D	0.93077	0.7796	M	0.82630	2.6	0.34380	D	0.693021	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.85130	0.951;0.997;0.963	D	0.94370	0.7595	10	0.72032	D	0.01	.	13.8751	0.63648	0.0732:0.0:0.9268:0.0	.	2520;2520;2520	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	N	2520	ENSP00000360158:H2520N;ENSP00000341097:H2520N	ENSP00000341097:H2520N	H	-	1	0	PKHD1	51840795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	1.402000	0.46780	0.591000	0.81541	CAT	PKHD1	-	NULL		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51732836	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51732836	G	T	51732836	3	4	29	1	0	0	0	0	1	0	0	0	11995	1290	45	3	4785	3	PKHD1	6	51732836	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		51732836	119382231	14	4204										
PKHD1	5314	genome.wustl.edu	37	chr6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	accatcagaaacaaggatggCgtgtgccctgagctcgatgg	13	10	1	2	rs375949362		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:51799070C>T	ENST00000371117.3	-	37	6234	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1987T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1987	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1987T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0.0014	5008	,	,		19865	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA,THR/ALA	0,4406		0,0,2203	113	105	108		5959,5959	-0.9	0.1	6		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1987/4075,1987/3397	51799070	1,13005	2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5959G>A	6.37:g.51799070C>T	ENSP00000360158:p.Ala1987Thr	980	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.A1987T	ENST00000371117.3	37	c.5959	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378129	0.24944	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89050	-2.46;-2.46	5.59	-0.93	0.10441	G8 domain (2);	0.848896	0.10708	N	0.643186	T	0.65770	0.2723	L	0.34521	1.04	0.09310	N	1	P;P;P	0.45474	0.859;0.714;0.529	B;B;B	0.35655	0.207;0.08;0.102	T	0.57271	-0.7840	10	0.29301	T	0.29	.	10.5006	0.44804	0.3684:0.5613:0.0703:0.0	.	1987;1987;1987	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	1987	ENSP00000360158:A1987T;ENSP00000341097:A1987T	ENSP00000341097:A1987T	A	-	1	0	PKHD1	51907029	0.035000	0.19736	0.057000	0.19452	0.924000	0.55760	0.083000	0.14871	-0.165000	0.10908	0.655000	0.94253	GCC	PKHD1	-	pfam_G8_domain		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51799070	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.076	T	T	51799070	C	T	51799070	3	4	29	1	0	0	0	0	1	0	0	0	11995	768	27	2	6428	2	PKHD1	6	51799070	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	66234	51799070	119315997	15	4205										
KHDC1	80759	genome.wustl.edu	37	chr6	73951257	73951257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gagatcagtccttaattacgGatacagtgaactcaaatgga	9	7	2	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:73951257G>A	ENST00000370384.3	-	5	1209	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	KHDC1_ENST00000257765.5_Missense_Mutation_p.P164S|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	237						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						CTTAATTACGGATACAGTGAA	0.468																																																	0													92	93	93					6																	73951257		1921	4108	6029	SO:0001583	missense	80759				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"chromosome 6 open reading frame 148"	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.709C>T	6.37:g.73951257G>A	ENSP00000359411:p.Pro237Ser		Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	NULL	p.P164S	ENST00000370384.3	37	c.490	CCDS59027.1	6	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870745	0.33069	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.36157	1.27	1.99	-1.33	0.09172	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.36163	-0.9759	9	0.87932	D	0	.	5.3439	0.15998	0.5958:0.0:0.4042:0.0	.	237	Q4VXA5	KHDC1_HUMAN	S	164;237	ENSP00000359411:P237S	ENSP00000257765:P164S	P	-	1	0	KHDC1	74007978	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.716000	0.04991	-0.407000	0.07576	-0.367000	0.07326	CCG	KHDC1	-	NULL		0.468	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	KHDC1	HGNC	protein_coding	OTTHUMT00000148103.2	G	NM_030568		73951257	-1	no_errors	ENST00000257765	ensembl	human	known	70_37	missense	SNP	0.000	A	A	73951257	G	A	73951257	3	1	29	1	0	0	0	0	1	0	0	0	8164	1174	41	1	8	1	KHDC1	6	73951257	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	22152187	73951257	97163810	16	4206										
AMD1	262	genome.wustl.edu	37	chr6	111211525	111211525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tacccacaccggaatttccaGgaagaaatagagtttcttaa	7	9	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:111211525G>T	ENST00000368885.3	+	4	729	c.393G>T	c.(391-393)caG>caT	p.Q131H	AMD1_ENST00000368876.1_Missense_Mutation_p.Q62H|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.Q102H	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	131					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGAATTTCCAGGAAGAAATAG	0.313																																																	0													53	58	56					6																	111211525		2201	4300	6501	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.393G>T	6.37:g.111211525G>T	ENSP00000357880:p.Gln131His		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.Q131H	ENST00000368885.3	37	c.393	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608620	0.66558	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.75	5.75	0.90469	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.56396	1.775	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.53012	-0.8498	9	0.46703	T	0.11	.	19.9376	0.97146	0.0:0.0:1.0:0.0	.	102;131	A6NNH3;P17707	.;DCAM_HUMAN	H	131;102;62	.	ENSP00000357870:Q62H	Q	+	3	2	AMD1	111318218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.467000	0.80930	2.711000	0.92665	0.655000	0.94253	CAG	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.313	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111211525	1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111211525	G	T	111211525	3	4	29	1	0	0	0	0	1	0	0	0	566	991	35	4	407	4	AMD1	6	111211525	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	37260268	111211525	59903542	17	4207										
FAM162B	221303	genome.wustl.edu	37	chr6	117083213	117083213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ttatgtaacaagctttcactCgagctttgtttcttgcggtg	9	8	2	0	rs541992567		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:117083213C>T	ENST00000368557.4	-	3	463	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	106						integral component of membrane (GO:0016021)		p.R106L(1)		large_intestine(2)|lung(4)	6						AGCTTTCACTCGAGCTTTGTT	0.383													C|||	1	0.000199681	0	0	5008	,	,		16331	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											205	194	197					6																	117083213		1885	4116	6001	SO:0001583	missense	221303			BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.317G>A	6.37:g.117083213C>T	ENSP00000357545:p.Arg106Gln		Q8IXW8	Missense_Mutation	SNP	pfam_DUF1075	p.R106Q	ENST00000368557.4	37	c.317	CCDS43497.1	6	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277751	0.59758	.	.	ENSG00000183807	ENST00000368557	T	0.61742	0.08	4.48	3.61	0.41365	.	0.000000	0.64402	D	0.000002	T	0.56202	0.1969	M	0.84433	2.695	0.46203	D	0.998923	D	0.57571	0.98	P	0.47981	0.563	T	0.66424	-0.5927	10	0.72032	D	0.01	-5.1308	11.7265	0.51712	0.0:0.9115:0.0:0.0885	.	106	Q5T6X4	F162B_HUMAN	Q	106	ENSP00000357545:R106Q	ENSP00000357545:R106Q	R	-	2	0	FAM162B	117189906	1.000000	0.71417	0.964000	0.40570	0.402000	0.30811	5.202000	0.65169	1.247000	0.43917	-0.142000	0.14014	CGA	FAM162B	-	pfam_DUF1075		0.383	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162B	HGNC	protein_coding	OTTHUMT00000041965.1	C	XM_927381		117083213	-1	no_errors	ENST00000368557	ensembl	human	known	70_37	missense	SNP	0.991	T	T	117083213	C	T	117083213	3	4	29	1	0	0	0	0	1	0	0	0	5490	884	31	1	179	1	FAM162B	6	117083213	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	5871688	117083213	54031854	18	4208										
C6orf70	55780	genome.wustl.edu	37	chr6	170176052	170176052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tcagattagaagataattctGaaacaaatgcctgccactct	6	9	3	4			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:170176052G>A	ENST00000366773.3	+	15	1444	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ERMARD_ENST00000588451.1_Missense_Mutation_p.E335K|ERMARD_ENST00000418781.3_Missense_Mutation_p.E471K|ERMARD_ENST00000392095.4_Missense_Mutation_p.E345K|ERMARD_ENST00000366772.2_Missense_Mutation_p.E471K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	471					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGATAATTCTGAAACAAATGC	0.378																																																	0													85	81	83					6																	170176052		2203	4300	6503	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1411G>A	6.37:g.170176052G>A	ENSP00000355735:p.Glu471Lys		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.E471K	ENST00000366773.3	37	c.1411	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	15.02	2.708764	0.48517	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.47177	0.85;0.85	5.27	5.27	0.74061	.	0.079495	0.53938	D	0.000052	T	0.57710	0.2072	M	0.77616	2.38	0.28507	N	0.913734	D;D;D	0.64830	0.994;0.994;0.988	P;P;P	0.60345	0.873;0.873;0.815	T	0.57277	-0.7839	10	0.72032	D	0.01	.	16.023	0.80512	0.0:0.0:1.0:0.0	.	471;471;471	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	471;471;471;345;119	ENSP00000355735:E471K;ENSP00000375945:E345K	ENSP00000355733:E119K	E	+	1	0	C6orf70	169917977	0.885000	0.30320	0.367000	0.25926	0.075000	0.17131	3.033000	0.49743	2.623000	0.88846	0.558000	0.71614	GAA	C6orf70	-	NULL		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	G	NM_018341		170176052	1	no_errors	ENST00000366773	ensembl	human	known	70_37	missense	SNP	0.583	A	A	170176052	G	A	170176052	3	1	29	1	0	0	0	0	1	0	0	0	2375	1291	45	1	1469	1	C6orf70	6	170176052	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	53092839	170176052	939015	19	4209										
TNRC18	84629	genome.wustl.edu	37	chr7	5360020	5360020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ctgcaatcctggtcccttgtGgcaagaagcgagtggaggct	14	10	0	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:5360020G>T	ENST00000430969.1	-	24	7022	c.6674C>A	c.(6673-6675)cCa>cAa	p.P2225Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2225Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2225							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTCCCTTGTGGCAAGAAGCG	0.592																																																	0													41	40	40					7																	5360020		1563	3568	5131	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6674C>A	7.37:g.5360020G>T	ENSP00000395538:p.Pro2225Gln		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P2225Q	ENST00000430969.1	37	c.6674	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	26.8	4.776357	0.90195	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.54071	0.59;0.59	4.52	4.52	0.55395	.	.	.	.	.	T	0.67401	0.2889	L	0.53249	1.67	0.44627	D	0.997604	D	0.71674	0.998	D	0.66716	0.946	T	0.71794	-0.4485	9	0.72032	D	0.01	.	16.8189	0.85740	0.0:0.0:1.0:0.0	.	2225	O15417	TNC18_HUMAN	Q	2225	ENSP00000382452:P2225Q;ENSP00000395538:P2225Q	ENSP00000382452:P2225Q	P	-	2	0	TNRC18	5326546	1.000000	0.71417	0.864000	0.33941	0.990000	0.78478	8.819000	0.91997	2.051000	0.60960	0.651000	0.88453	CCA	TNRC18	-	NULL		0.592	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		G			5360020	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.999	T	T	5360020	G	T	5360020	3	4	29	1	0	0	0	0	1	0	0	0	16369	1348	47	4	2260	4	TNRC18	7	5360020	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		5360020	153778643	20	4210										
POU6F2	11281	genome.wustl.edu	37	chr7	39472873	39472873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	acgctgtcacccatcaagccCggccagcaggtaaatgttcc	9	15	2	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:39472873C>T	ENST00000403058.1	+	8	1378	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	POU6F2_ENST00000518318.2_Silent_p.P408P|POU6F2_ENST00000559001.1_Silent_p.P353P	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	408	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCATCAAGCCCGGCCAGCAGG	0.542																																																	0													79	62	68					7																	39472873		2203	4300	6503	SO:0001819	synonymous_variant	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1224C>T	7.37:g.39472873C>T			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P408	ENST00000403058.1	37	c.1224	CCDS34620.2	7																																																																																			POU6F2	-	NULL		0.542	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	C	NM_007252		39472873	1	no_errors	ENST00000403058	ensembl	human	known	70_37	silent	SNP	0.991	T	T	39472873	C	T	39472873	2	4	29	1	0	0	0	0	0	0	0	1	12309	639	23	2		2	POU6F2	7	39472873	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	34112853	39472873	119665790	21	4211										
POLM	27434	genome.wustl.edu	37	chr7	44113615	44113615	+	Frame_Shift_Del	DEL	G	G	-													0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gtgctggtgctggtggtacaGgatgaggccctgtggggaga							TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:44113615delG	ENST00000242248.5	-	9	1182	c.1081delC	c.(1081-1083)ctgfs	p.L361fs	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Frame_Shift_Del_p.L324fs|POLM_ENST00000395831.3_Frame_Shift_Del_p.L281fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	361					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TGGTGGTACAGGATGAGGCCC	0.627								DNA polymerases (catalytic subunits)																																									0													39	41	41					7																	44113615		2203	4300	6503	SO:0001589	frameshift_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1081delC	7.37:g.44113615delG	ENSP00000242248:p.Leu361fs		D3DVK4|Q6P5X8|Q86WQ9	Frame_Shift_Del	DEL	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.L361fs	ENST00000242248.5	37	c.1081	CCDS34625.1	7																																																																																			POLM	-	smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase		0.627	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	G	NM_013284		44113615	-1	no_errors	ENST00000242248	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-	-	44113615	G	-	44113615	7	5	29	1	0	1	0	1	0	0	0	0	12230	991	35	0	415	0	POLM	7	44113615	Frame_Shift_Del	DEL	G	TCGA-C5-A2LS-01A-22D-A22X-09	4640742	44113615	115025048	22	4212										
GNAT3	346562	genome.wustl.edu	37	chr7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gagtttcaatgattccagtcGttttcactcgagaatggaga	10	7	2	3			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:80103615G>A	ENST00000398291.3	-	5	635	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343																																																	0													73	69	70					7																	80103615		1848	4102	5950	SO:0001583	missense	346562				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.542C>T	7.37:g.80103615G>A	ENSP00000381339:p.Thr181Met		A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.T181M	ENST00000398291.3	37	c.542	CCDS47625.1	7	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915663	0.92178	.	.	ENSG00000214415	ENST00000398291	D	0.95918	-3.85	5.99	5.99	0.97316	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98886	1.0771	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	181	A8MTJ3	GNAT3_HUMAN	M	181	ENSP00000381339:T181M	.	T	-	2	0	GNAT3	79941551	1.000000	0.71417	0.971000	0.41717	0.975000	0.68041	9.493000	0.97960	2.853000	0.98044	0.655000	0.94253	ACG	GNAT3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT3	HGNC	protein_coding	OTTHUMT00000339909.3	G	XM_294370		80103615	-1	no_errors	ENST00000398291	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80103615	G	A	80103615	3	1	29	1	0	0	0	0	1	0	0	0	6532	1145	40	2	536	2	GNAT3	7	80103615	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	35990000	80103615	79035048	23	4213										
PIK3CG	5294	genome.wustl.edu	37	chr7	106508173	106508173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	caaatgcaagagccccgaaaCggcgctgctgcacgtggccg	13	14	0	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:106508173C>T	ENST00000359195.3	+	2	477	c.167C>T	c.(166-168)aCg>aTg	p.T56M	PIK3CG_ENST00000496166.1_Missense_Mutation_p.T56M|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T56M	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	56	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCCCGAAACGGCGCTGCTG	0.667																																																	0													28	33	31					7																	106508173		2200	4298	6498	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.167C>T	7.37:g.106508173C>T	ENSP00000352121:p.Thr56Met		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.T56M	ENST00000359195.3	37	c.167	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	C	8.071	0.770247	0.15983	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70631	-0.5;-0.5;-0.5	5.54	4.66	0.58398	.	0.000000	0.51477	D	0.000095	T	0.58836	0.2150	L	0.33485	1.01	0.30911	N	0.729082	B	0.12630	0.006	B	0.08055	0.003	T	0.59075	-0.7522	10	0.37606	T	0.19	-8.6608	11.9961	0.53204	0.0:0.8543:0.0:0.1457	.	56	P48736	PK3CG_HUMAN	M	56	ENSP00000392258:T56M;ENSP00000419260:T56M;ENSP00000352121:T56M	ENSP00000352121:T56M	T	+	2	0	PIK3CG	106295409	0.087000	0.21565	0.223000	0.23860	0.890000	0.51754	0.676000	0.25247	1.468000	0.48064	0.563000	0.77884	ACG	PIK3CG	-	NULL		0.667	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	C			106508173	1	no_errors	ENST00000359195	ensembl	human	known	70_37	missense	SNP	0.380	T	T	106508173	C	T	106508173	3	4	29	1	0	0	0	0	1	0	0	0	11940	536	19	2	169	2	PIK3CG	7	106508173	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	26404558	106508173	52630490	24	4214										
LONRF1	91694	genome.wustl.edu	37	chr8	12594605	12594605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gctgactgagcacggtttaaGcttcctttgacaggctctga	11	10	1	4			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr8:12594605G>T	ENST00000398246.3	-	5	1227	c.1158C>A	c.(1156-1158)agC>agA	p.S386R	LONRF1_ENST00000533751.1_Missense_Mutation_p.S29R|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	386							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CACGGTTTAAGCTTCCTTTGA	0.393																																																	0													81	75	77					8																	12594605		1841	4091	5932	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1158C>A	8.37:g.12594605G>T	ENSP00000381298:p.Ser386Arg		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S386R	ENST00000398246.3	37	c.1158	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464159	0.26335	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;D	0.81739	0.96;-1.53	5.2	3.42	0.39159	.	0.483231	0.14043	U	0.345303	T	0.66781	0.2824	N	0.24115	0.695	0.45676	D	0.998599	B	0.23128	0.08	B	0.17098	0.017	T	0.58137	-0.7689	10	0.31617	T	0.26	-6.2928	9.0667	0.36467	0.3467:0.0:0.6533:0.0	.	386	Q17RB8	LONF1_HUMAN	R	386;29	ENSP00000381298:S386R;ENSP00000432130:S29R	ENSP00000381298:S386R	S	-	3	2	LONRF1	12638976	0.615000	0.27026	0.996000	0.52242	0.995000	0.86356	0.757000	0.26433	0.860000	0.35481	-0.137000	0.14449	AGC	LONRF1	-	NULL		0.393	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	G	NM_152271		12594605	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	0.992	T	T	12594605	G	T	12594605	3	4	29	1	0	0	0	0	1	0	0	0	8917	962	34	4	1195	4	LONRF1	8	12594605	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		12594605	133769417	25	4215										
SFTPC	649	genome.wustl.edu	37	chr8	22021029	22021029	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gagagcatccccagtcttgaGgctctcactagaaaagtcca	9	12	2	3			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr8:22021029G>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Missense_Mutation_p.E82D|SFTPC_ENST00000524255.1_Missense_Mutation_p.E82D|SFTPC_ENST00000437090.2_Missense_Mutation_p.E135D|SFTPC_ENST00000318561.3_Missense_Mutation_p.E135D|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.E135D|SFTPC_ENST00000521315.1_Missense_Mutation_p.E135D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCAGTCTTGAGGCTCTCACTA	0.562																																																	0													81	83	82					8																	22021029		1943	4150	6093	SO:0001631	upstream_gene_variant	6440				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021029G>T	Exception_encountered		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom	p.E135D	ENST00000306385.5	37	c.405	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431422	0.43122	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.49	2.36	0.29203	BRICHOS (2);	0.243627	0.29260	N	0.012664	D	0.82623	0.5077	L	0.61036	1.89	0.34111	D	0.663011	B;B;B;D	0.69078	0.02;0.058;0.054;0.997	B;B;B;D	0.79108	0.04;0.055;0.04;0.992	T	0.80571	-0.1323	10	0.09843	T	0.71	-3.0579	5.4741	0.16686	0.0982:0.0:0.4693:0.4325	.	135;135;135;135	E9PGX3;C9JYF6;P11686;E5RI92	.;.;PSPC_HUMAN;.	D	135;135;135;82;135;82;82	ENSP00000316152:E135D;ENSP00000430410:E135D;ENSP00000407931:E135D;ENSP00000430266:E82D;ENSP00000429496:E135D;ENSP00000429552:E82D;ENSP00000429619:E82D	ENSP00000316152:E135D	E	+	3	2	SFTPC	22076974	1.000000	0.71417	0.995000	0.50966	0.707000	0.40811	1.707000	0.37888	0.655000	0.30866	0.655000	0.94253	GAG	SFTPC	-	pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom		0.562	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPC	HGNC	protein_coding	OTTHUMT00000214995.2	G	NM_006132		22021029	1	no_errors	ENST00000318561	ensembl	human	known	70_37	missense	SNP	0.980	T	T	22021029	G	T	22021029	1	4	29	0	1	0	0	0	0	0	0	0	14222	991	35	4		4	SFTPC	8	22021029	5'Flank	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	9426424	22021029	124342993	26	4216										
SFTPC	649	genome.wustl.edu	37	chr8	22021506	22021506	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ggggacccggccttcctgggCatggccgtgagcaccctgtg	16	14	0	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr8:22021506C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Silent_p.G129G|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000318561.3_Silent_p.G182G|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000521315.1_Silent_p.G176G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCCTGGGCATGGCCGTGA	0.677																																																	0													46	55	52					8																	22021506		2039	4183	6222	SO:0001631	upstream_gene_variant	6440				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021506C>T	Exception_encountered		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom	p.G182	ENST00000306385.5	37	c.546	CCDS6026.1	8																																																																																			SFTPC	-	pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom		0.677	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPC	HGNC	protein_coding	OTTHUMT00000214995.2	C	NM_006132		22021506	1	no_errors	ENST00000318561	ensembl	human	known	70_37	silent	SNP	0.843	T	T	22021506	C	T	22021506	1	4	29	0	1	0	0	0	0	0	0	0	14222	697	25	4		4	SFTPC	8	22021506	5'Flank	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	477	22021506	124342516	27	4217										
DMRT1	1761	genome.wustl.edu	37	chr9	916849	916849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ccctcttacctgggccagagCgtgccccagttcttcacttt	8	16	3	1	rs534737562		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:916849C>T	ENST00000382276.3	+	4	1058	c.909C>T	c.(907-909)agC>agT	p.S303S	DMRT1_ENST00000569227.1_Silent_p.S145S	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	303					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGGGCCAGAGCGTGCCCCAGT	0.537																																																	0													131	110	117					9																	916849		2203	4300	6503	SO:0001819	synonymous_variant	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.909C>T	9.37:g.916849C>T			B2R913|Q6T1H8|Q6T1H9|Q8IW77	Silent	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S303	ENST00000382276.3	37	c.909	CCDS6442.1	9																																																																																			DMRT1	-	NULL		0.537	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	C	NM_021951		916849	1	no_errors	ENST00000382276	ensembl	human	known	70_37	silent	SNP	0.066	T	T	916849	C	T	916849	2	4	29	1	0	0	0	0	0	0	0	1	4595	767	27	2		2	DMRT1	9	916849	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		916849	140296582	28	4218										
TLN1	7094	genome.wustl.edu	37	chr9	35713251	35713251	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	agctgggcgatggctgagctCacggctttggtgctgttgcc	16	10	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:35713251C>T	ENST00000314888.9	-	26	3647	c.3294G>A	c.(3292-3294)gtG>gtA	p.V1098V	TLN1_ENST00000540444.1_Silent_p.V1098V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1098					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCTGAGCTCACGGCTTTGG	0.547																																																	0													60	50	53					9																	35713251		2203	4300	6503	SO:0001819	synonymous_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3294G>A	9.37:g.35713251C>T			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V1098	ENST00000314888.9	37	c.3294	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289		35713251	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35713251	C	T	35713251	2	4	29	1	0	0	0	0	0	0	0	1	15977	813	29	1		1	TLN1	9	35713251	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	34796402	35713251	105500180	29	4219										
TRPM6	140803	genome.wustl.edu	37	chr9	77378029	77378029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ttttcattcatttctttcagCtggaagtacatctctgtaac	5	9	5	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:77378029C>A	ENST00000360774.1	-	26	3795	c.3558G>T	c.(3556-3558)caG>caT	p.Q1186H	TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1181H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1181H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1186H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1186H|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1186					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCTTTCAGCTGGAAGTACA	0.468																																																	0													47	48	48					9																	77378029		2200	4298	6498	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3558G>T	9.37:g.77378029C>A	ENSP00000354006:p.Gln1186His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q1186H	ENST00000360774.1	37	c.3558	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970448	0.53614	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.94	-2.15	0.07102	.	0.187229	0.56097	N	0.000021	T	0.47619	0.1455	M	0.75264	2.295	0.42091	D	0.991292	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.76071	0.971;0.973;0.987	T	0.48068	-0.9067	10	0.87932	D	0	.	9.1204	0.36784	0.0:0.4421:0.1153:0.4427	.	1186;1181;1181	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	H	1186;1186;1181;1181;1186;849;849	ENSP00000354006:Q1186H;ENSP00000407341:Q1186H;ENSP00000396672:Q1181H;ENSP00000354962:Q1181H;ENSP00000366060:Q1186H	ENSP00000309693:Q849H	Q	-	3	2	TRPM6	76567849	0.858000	0.29795	0.859000	0.33776	0.841000	0.47740	0.091000	0.15046	-0.343000	0.08351	-1.193000	0.01689	CAG	TRPM6	-	NULL		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	C	NM_017662		77378029	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	missense	SNP	0.915	A	A	77378029	C	A	77378029	3	1	29	1	0	0	0	0	1	0	0	0	16621	796	28	4	2566	4	TRPM6	9	77378029	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	41664778	77378029	63835402	30	4220										
USP6NL	9712	genome.wustl.edu	37	chr10	11567450	11567450	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gcatcttcccaaggttcaatCtctgcaccttctcgtcccta	5	16	4	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr10:11567450C>G	ENST00000609104.1	-	4	484	c.90G>C	c.(88-90)gaG>gaC	p.E30D	USP6NL_ENST00000277575.5_Missense_Mutation_p.E47D|USP6NL_ENST00000379237.2_Missense_Mutation_p.E53D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	30					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGGTTCAATCTCTGCACCTT	0.318																																																	0													122	114	117					10																	11567450		1838	4093	5931	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.90G>C	10.37:g.11567450C>G	ENSP00000476462:p.Glu30Asp		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E47D	ENST00000609104.1	37	c.141	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342407	0.41498	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.29655	1.56;1.56	5.71	2.8	0.32819	.	0.462750	0.25178	N	0.032542	T	0.20455	0.0492	L	0.31752	0.955	0.40061	D	0.975892	B;B	0.20550	0.027;0.046	B;B	0.18561	0.016;0.022	T	0.05733	-1.0867	10	0.36615	T	0.2	.	8.9392	0.35720	0.1238:0.7408:0.0:0.1354	.	30;47	Q92738;Q92738-2	US6NL_HUMAN;.	D	30;47;30	ENSP00000277575:E47D;ENSP00000368539:E30D	ENSP00000277575:E47D	E	-	3	2	USP6NL	11607456	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	0.029000	0.13666	0.870000	0.35726	0.650000	0.86243	GAG	USP6NL	-	NULL		0.318	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	C	NM_014688		11567450	-1	no_errors	ENST00000277575	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11567450	C	G	11567450	3	3	29	1	0	0	0	0	1	0	0	0	17118	912	32	1	2444	1	USP6NL	10	11567450	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		11567450	123967297	31	4221										
PKD2L1	9033	genome.wustl.edu	37	chr10	102051081	102051081	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ctcttcctccaggtcctgtcGcattttttcctgttccttct	5	15	2	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr10:102051081G>A	ENST00000318222.3	-	12	2366	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.R587*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.R662*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	662	EF-hand.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGGTCCTGTCGCATTTTTTCC	0.522																																																	0													244	196	212					10																	102051081		2203	4300	6503	SO:0001587	stop_gained	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1984C>T	10.37:g.102051081G>A	ENSP00000325296:p.Arg662*		O75972|Q5W039|Q9UP35|Q9UPA2	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.R662*	ENST00000318222.3	37	c.1984	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.203795	0.97371	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	.	.	.	5.82	2.91	0.33838	.	0.645425	0.15966	N	0.236019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.17	8.5006	0.33156	0.0723:0.0:0.4127:0.515	.	.	.	.	X	587;662;662;660	.	ENSP00000325296:R662X	R	-	1	2	PKD2L1	102041071	0.998000	0.40836	0.085000	0.20634	0.042000	0.13812	2.645000	0.46621	0.345000	0.23873	-0.136000	0.14681	CGA	PKD2L1	-	NULL		0.522	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	G	NM_016112		102051081	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	nonsense	SNP	0.876	A	A	102051081	G	A	102051081	4	1	29	1	0	0	0	0	0	1	0	0	11991	1095	38	2	453	2	PKD2L1	10	102051081	Nonsense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	90483631	102051081	33483666	32	4222										
FRG2B	441581	genome.wustl.edu	37	chr10	135439803	135439803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tccttgtttggattgggctcCgatcctgctgcaagagaagg	13	9	0	1	rs202189720		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr10:135439803C>T	ENST00000425520.1	-	2	235	c.183G>A	c.(181-183)tcG>tcA	p.S61S	FRG2B_ENST00000443774.1_Silent_p.S62S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	61						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GATTGGGCTCCGATCCTGCTG	0.488																																																	0													1	1	1					10																	135439803		23	64	87	SO:0001819	synonymous_variant	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.183G>A	10.37:g.135439803C>T			Q5VSQ1	Silent	SNP	NULL	p.S62	ENST00000425520.1	37	c.186	CCDS44502.1	10																																																																																			FRG2B	-	NULL		0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1	C	NM_001080998		135439803	-1	no_errors	ENST00000443774	ensembl	human	known	70_37	silent	SNP	0.213	T	T	135439803	C	T	135439803	2	4	29	1	0	0	0	0	0	0	0	1	6065	639	23	2		2	FRG2B	10	135439803	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	33388722	135439803	94944	33	4223										
AMBRA1	55626	genome.wustl.edu	37	chr11	46430214	46430214	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tgaagcccaatggcattcatCagccccatgtctctgtctgt	8	13	4	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:46430214C>T	ENST00000458649.2	-	17	3670	c.3252G>A	c.(3250-3252)ctG>ctA	p.L1084L	AMBRA1_ENST00000534300.1_Silent_p.L1024L|AMBRA1_ENST00000528950.1_Silent_p.L1055L|AMBRA1_ENST00000533727.1_Silent_p.L965L|AMBRA1_ENST00000426438.1_Silent_p.L1055L|AMBRA1_ENST00000298834.3_Silent_p.L1024L|AMBRA1_ENST00000314845.3_Silent_p.L994L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1084					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGCATTCATCAGCCCCATGT	0.577																																																	0													73	64	67					11																	46430214		2202	4299	6501	SO:0001819	synonymous_variant	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3252G>A	11.37:g.46430214C>T			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1084	ENST00000458649.2	37	c.3252		11																																																																																			AMBRA1	-	NULL		0.577	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46430214	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46430214	C	T	46430214	2	4	29	1	0	0	0	0	0	0	0	1	565	813	29	1		1	AMBRA1	11	46430214	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		46430214	88576302	34	4224										
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	5	8	1	1	rs76509850	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	A	NM_004476		49204790	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49204790	A	G	49204790	2	3	29	1	0	0	0	0	0	0	0	1	5997	224	8	5		5	FOLH1	11	49204790	Silent	SNP	A	TCGA-C5-A2LS-01A-22D-A22X-09	2774576	49204790	85801726	35	4225										
FEN1	2237	genome.wustl.edu	37	chr11	61563301	61563301	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	atcccttatcttgatgcaccCagtgaggcagaggccagctg	11	12	1	3			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:61563301C>G	ENST00000305885.2	+	2	881	c.468C>G	c.(466-468)ccC>ccG	p.P156P	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGATGCACCCAGTGAGGCAG	0.557								Editing and processing nucleases																																									0													60	61	61					11																	61563301		2202	4299	6501	SO:0001819	synonymous_variant	2237			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.468C>G	11.37:g.61563301C>G				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.P156	ENST00000305885.2	37	c.468	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair		0.557	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1	C	NM_004111		61563301	1	no_errors	ENST00000305885	ensembl	human	known	70_37	silent	SNP	1.000	G	G	61563301	C	G	61563301	2	3	29	1	0	0	0	0	0	0	0	1	5830	581	21	4		4	FEN1	11	61563301	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	12358511	61563301	73443215	36	4226										
SLC22A10	387775	genome.wustl.edu	37	chr11	63072233	63072233	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cccctcttgatgaccttaacGgtattttttaccactttgcc	5	13	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:63072233G>T	ENST00000332793.6	+	9	1472	c.1470G>T	c.(1468-1470)acG>acT	p.T490T	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	490						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TGACCTTAACGGTATTTTTTA	0.428																																																	0													170	153	159					11																	63072233		1882	4109	5991	SO:0001819	synonymous_variant	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1470G>T	11.37:g.63072233G>T			Q68CJ0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T490	ENST00000332793.6	37	c.1470	CCDS41661.1	11																																																																																			SLC22A10	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.428	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3	G	NM_001039752		63072233	1	no_errors	ENST00000332793	ensembl	human	known	70_37	silent	SNP	0.000	T	T	63072233	G	T	63072233	2	4	29	1	0	0	0	0	0	0	0	1	14471	1103	39	2		2	SLC22A10	11	63072233	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	1508932	63072233	71934283	37	4227										
CTSW	1521	genome.wustl.edu	37	chr11	65650281	65650281	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	agtgaaaaggactacccgttCcagggcaaagtcagagccca	11	11	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:65650281C>T	ENST00000307886.3	+	7	697	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CTSW_ENST00000528419.1_Silent_p.F217F	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	217					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACTACCCGTTCCAGGGCAAAG	0.597																																																	0													90	81	84					11																	65650281		2201	4296	6497	SO:0001819	synonymous_variant	1521			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.651C>T	11.37:g.65650281C>T			Q86VT4	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.F217	ENST00000307886.3	37	c.651	CCDS8117.1	11																																																																																			CTSW	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.597	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSW	HGNC	protein_coding	OTTHUMT00000391042.1	C	NM_001335		65650281	1	no_errors	ENST00000307886	ensembl	human	known	70_37	silent	SNP	0.818	T	T	65650281	C	T	65650281	2	4	29	1	0	0	0	0	0	0	0	1	4047	854	30	1		1	CTSW	11	65650281	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	2578048	65650281	69356235	38	4228										
SPTBN2	6712	genome.wustl.edu	37	chr11	66472250	66472250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ggcctgcagctcctcgtagtGccgctccagggtgggcaccc	14	16	0	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:66472250G>T	ENST00000533211.1	-	15	2828	c.2497C>A	c.(2497-2499)Cac>Aac	p.H833N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.H833N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.H833N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	833					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCTCGTAGTGCCGCTCCAGG	0.731																																																	0													10	11	11					11																	66472250		2179	4240	6419	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2497C>A	11.37:g.66472250G>T	ENSP00000432568:p.His833Asn		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H833N	ENST00000533211.1	37	c.2497	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409037	0.25378	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48522	0.81;0.81;0.81	4.97	4.02	0.46733	.	0.337248	0.31859	N	0.006942	T	0.33818	0.0876	N	0.20685	0.6	0.39313	D	0.965118	B	0.20052	0.041	B	0.28465	0.09	T	0.11743	-1.0575	10	0.17832	T	0.49	.	13.9547	0.64140	0.0:0.1537:0.8463:0.0	.	833	O15020	SPTN2_HUMAN	N	833	ENSP00000432568:H833N;ENSP00000311489:H833N;ENSP00000433593:H833N	ENSP00000311489:H833N	H	-	1	0	SPTBN2	66228826	0.995000	0.38212	0.995000	0.50966	0.135000	0.20990	2.479000	0.45197	1.242000	0.43836	0.591000	0.81541	CAC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.731	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66472250	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66472250	G	T	66472250	3	4	29	1	0	0	0	0	1	0	0	0	15150	1319	46	4	4771	4	SPTBN2	11	66472250	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	821969	66472250	68534266	39	4229										
MAML2	84441	genome.wustl.edu	37	chr11	95826265	95826265	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gatatgttggtcagttcattGaacagttcctgcagctcagg	11	8	3	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:95826265G>A	ENST00000524717.1	-	2	2214	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	310					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCAGTTCATTGAACAGTTCCT	0.453			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													153	147	149					11																	95826265		2055	4206	6261	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.930C>T	11.37:g.95826265G>A			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.F310	ENST00000524717.1	37	c.930	CCDS44714.1	11																																																																																			MAML2	-	NULL		0.453	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95826265	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	silent	SNP	1.000	A	A	95826265	G	A	95826265	2	1	29	1	0	0	0	0	0	0	0	1	9229	1281	45	1		1	MAML2	11	95826265	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	29354015	95826265	39180251	40	4230										
GUCY1A2	2977	genome.wustl.edu	37	chr11	106856836	106856836	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	atactgcagtgtcctcttgaGagtctgctgtatcgtctgag	11	9	3	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:106856836G>A	ENST00000526355.2	-	2	793	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L109F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L109F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	109					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTCCTCTTGAGAGTCTGCTGT	0.343																																																	0													94	90	92					11																	106856836		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.325C>T	11.37:g.106856836G>A	ENSP00000431245:p.Leu109Phe		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L109F	ENST00000526355.2	37	c.325	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740899	0.69304	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.92911	-2.74;-3.13;-2.85	5.32	4.41	0.53225	.	0.000000	0.35903	U	0.002911	D	0.94275	0.8161	L	0.58810	1.83	0.48632	D	0.999689	D;D;B	0.76494	0.999;0.983;0.014	D;P;B	0.80764	0.994;0.823;0.008	D	0.93957	0.7237	10	0.56958	D	0.05	.	11.233	0.48923	0.0866:0.0:0.9134:0.0	.	109;109;109	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	109	ENSP00000431245:L109F;ENSP00000282249:L109F;ENSP00000344874:L109F	ENSP00000282249:L109F	L	-	1	0	GUCY1A2	106362046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.659000	0.54489	1.371000	0.46172	0.557000	0.71058	CTC	GUCY1A2	-	NULL		0.343	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	G			106856836	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106856836	G	A	106856836	3	1	29	1	0	0	0	0	1	0	0	0	6913	942	33	1	1901	1	GUCY1A2	11	106856836	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	11030571	106856836	28149680	41	4231										
APLP2	334	genome.wustl.edu	37	chr11	130005463	130005463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ccctgtcttcatcagatgagCtccttcaggagcagcgtgca	10	13	4	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:130005463C>A	ENST00000263574.5	+	13	1762	c.1690C>A	c.(1690-1692)Ctc>Atc	p.L564I	APLP2_ENST00000543137.1_Missense_Mutation_p.L471I|APLP2_ENST00000528499.1_Missense_Mutation_p.L508I|APLP2_ENST00000338167.5_Missense_Mutation_p.L564I|APLP2_ENST00000539648.1_Missense_Mutation_p.L352I|APLP2_ENST00000278756.7_Missense_Mutation_p.L574I|APLP2_ENST00000345598.5_Missense_Mutation_p.L335I	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	564					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATCAGATGAGCTCCTTCAGGA	0.582																																																	0													113	107	109					11																	130005463		2201	4297	6498	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1690C>A	11.37:g.130005463C>A	ENSP00000263574:p.Leu564Ile		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.L564I	ENST00000263574.5	37	c.1690	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592960	0.66219	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.28	5.28	0.74379	Amyloidogenic glycoprotein, E2 domain (1);	0.000000	0.64402	D	0.000001	T	0.69133	0.3077	M	0.75777	2.31	0.58432	D	0.999994	P;P;B;B;P;P;P	0.52692	0.955;0.823;0.159;0.074;0.912;0.576;0.837	D;P;B;B;P;B;P	0.71414	0.973;0.601;0.117;0.143;0.579;0.351;0.616	T	0.71666	-0.4524	10	0.66056	D	0.02	-20.6971	9.7259	0.40330	0.0:0.8407:0.0:0.1593	.	352;564;508;335;502;508;564	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	I	508;352;564;335;564;574;471	ENSP00000435914:L508I;ENSP00000443728:L352I;ENSP00000263574:L564I;ENSP00000263575:L335I;ENSP00000345444:L564I;ENSP00000278756:L574I;ENSP00000444122:L471I	ENSP00000263574:L564I	L	+	1	0	APLP2	129510673	1.000000	0.71417	0.908000	0.35775	0.936000	0.57629	3.047000	0.49854	2.480000	0.83734	0.591000	0.81541	CTC	APLP2	-	superfamily_Amyloid_glyco_E2_domain		0.582	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	C	NM_001642		130005463	1	no_errors	ENST00000263574	ensembl	human	known	70_37	missense	SNP	0.979	A	A	130005463	C	A	130005463	3	1	29	1	0	0	0	0	1	0	0	0	779	797	28	4	1740	4	APLP2	11	130005463	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	23148627	130005463	5001053	42	4232										
IFNG	3458	genome.wustl.edu	37	chr12	68553365	68553365	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	acccaaaacgatgcagagctGaaaagccaagatataacttg	8	9	0	3			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr12:68553365G>C	ENST00000229135.3	-	1	162	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	11					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	ATGCAGAGCTGAAAAGCCAAG	0.363																																																	0													41	38	39					12																	68553365		2203	4299	6502	SO:0001583	missense	3458				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.31C>G	12.37:g.68553365G>C	ENSP00000229135:p.Gln11Glu		B5BU88|Q53ZV4	Missense_Mutation	SNP	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.Q11E	ENST00000229135.3	37	c.31	CCDS8980.1	12	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098012	0.37048	.	.	ENSG00000111537	ENST00000229135	T	0.32515	1.45	5.12	5.12	0.69794	.	0.793470	0.11748	N	0.533297	T	0.52435	0.1734	M	0.83118	2.625	0.26246	N	0.978797	D	0.63880	0.993	P	0.53689	0.732	T	0.50474	-0.8824	9	.	.	.	8.5897	14.7871	0.69810	0.0:0.0:1.0:0.0	.	11	P01579	IFNG_HUMAN	E	11	ENSP00000229135:Q11E	.	Q	-	1	0	IFNG	66839632	0.997000	0.39634	0.365000	0.25901	0.021000	0.10359	1.740000	0.38228	2.779000	0.95612	0.491000	0.48974	CAG	IFNG	-	pirsf_Interferon_gamma		0.363	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	HGNC	protein_coding	OTTHUMT00000402301.1	G			68553365	-1	no_errors	ENST00000229135	ensembl	human	known	70_37	missense	SNP	0.715	C	C	68553365	G	C	68553365	3	2	29	1	0	0	0	0	1	0	0	0	7568	1299	45	1	485	1	IFNG	12	68553365	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		68553365	65298530	43	4233										
TESC	54997	genome.wustl.edu	37	chr12	117479757	117479757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gcccaggccacccaccttcaGgaagtcctcgaaggtgatcc	10	16	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr12:117479757G>T	ENST00000335209.7	-	7	748	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	TESC_ENST00000392545.4_Missense_Mutation_p.L241M|TESC_ENST00000541210.1_Missense_Mutation_p.L161M			Q96BS2	CHP3_HUMAN	tescalcin	188					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CCCACCTTCAGGAAGTCCTCG	0.637																																																	0													29	35	33					12																	117479757		1978	4159	6137	SO:0001583	missense	54997			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.562C>A	12.37:g.117479757G>T	ENSP00000334785:p.Leu188Met		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L241M	ENST00000335209.7	37	c.721	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271969	0.59649	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.57595	0.39;0.39;1.02	5.12	4.23	0.50019	EF-hand-like domain (1);	0.236300	0.28219	U	0.016143	T	0.36331	0.0963	L	0.31926	0.97	0.58432	D	0.999996	P	0.42203	0.773	B	0.31946	0.138	T	0.19679	-1.0298	10	0.34782	T	0.22	-17.3783	12.496	0.55929	0.0816:0.0:0.9184:0.0	.	188	Q96BS2	TESC_HUMAN	M	188;241;161	ENSP00000334785:L188M;ENSP00000376328:L241M;ENSP00000445689:L161M	ENSP00000334785:L188M	L	-	1	2	TESC	115964140	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	5.669000	0.68081	1.386000	0.46466	0.655000	0.94253	CTG	TESC	-	NULL		0.637	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	G	NM_017899		117479757	-1	no_errors	ENST00000392545	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117479757	G	T	117479757	3	4	29	1	0	0	0	0	1	0	0	0	15796	991	35	4	90	4	TESC	12	117479757	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	48926392	117479757	16372138	44	4234										
KSR2	283455	genome.wustl.edu	37	chr12	118298123	118298123	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	acctccttgcgcacatcgacGattcggaaccagtgccgtag	10	14	0	0	rs55997942	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr12:118298123G>A	ENST00000339824.5	-	2	1021	c.294C>T	c.(292-294)atC>atT	p.I98I	KSR2_ENST00000425217.1_Silent_p.I69I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	98					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATCGACGATTCGGAACC	0.632													G|||	3	0.000599042	0	0.0014	5008	,	,		19481	0.002		0	False		,,,				2504	0																0													61	65	64					12																	118298123		1568	3582	5150	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.294C>T	12.37:g.118298123G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I98	ENST00000339824.5	37	c.294		12																																																																																			KSR2	-	NULL		0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	G	NM_173598		118298123	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	1.000	A	A	118298123	G	A	118298123	2	1	29	1	0	0	0	0	0	0	0	1	8602	1048	37	1		1	KSR2	12	118298123	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	818366	118298123	15553772	45	4235										
SLITRK1	114798	genome.wustl.edu	37	chr13	84454533	84454533	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	acgttagagagcttgggcttCaaatcagccaagctgctcac	10	11	3	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr13:84454533C>T	ENST00000377084.2	-	1	1995	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	370	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCTTGGGCTTCAAATCAGCCA	0.502																																																	0													88	82	84					13																	84454533		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1110G>A	13.37:g.84454533C>T			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L370	ENST00000377084.2	37	c.1110	CCDS9464.1	13																																																																																			SLITRK1	-	NULL		0.502	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	C	NM_052910		84454533	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	T	T	84454533	C	T	84454533	2	4	29	1	0	0	0	0	0	0	0	1	14772	825	29	1		1	SLITRK1	13	84454533	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		84454533	30715345	46	4236										
RBM25	58517	genome.wustl.edu	37	chr14	73572954	73572954	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	aagaaaacccgggaatatgaGaaagaagctgaaagagaaga	12	4	0	6			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:73572954G>T	ENST00000261973.7	+	12	1713	c.1428G>T	c.(1426-1428)gaG>gaT	p.E476D	RBM25_ENST00000527432.1_Missense_Mutation_p.E476D	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	476	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGGAATATGAGAAAGAAGCTG	0.303																																																	0													31	35	33					14																	73572954		2171	4265	6436	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1428G>T	14.37:g.73572954G>T	ENSP00000261973:p.Glu476Asp		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.E476D	ENST00000261973.7	37	c.1428	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475213	0.26511	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.29655	1.56;1.56	5.77	2.88	0.33553	.	0.259072	0.45867	D	0.000326	T	0.20659	0.0497	L	0.41124	1.26	0.80722	D	1	B	0.29037	0.231	B	0.21917	0.037	T	0.05022	-1.0911	10	0.30078	T	0.28	.	7.5143	0.27592	0.4484:0.0:0.5516:0.0	.	476	P49756	RBM25_HUMAN	D	476	ENSP00000261973:E476D;ENSP00000431150:E476D	ENSP00000261973:E476D	E	+	3	2	RBM25	72642707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.667000	0.25112	0.329000	0.23460	-0.142000	0.14014	GAG	RBM25	-	NULL		0.303	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	G	XM_027330		73572954	1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	0.997	T	T	73572954	G	T	73572954	3	4	29	1	0	0	0	0	1	0	0	0	13155	933	33	3	1470	3	RBM25	14	73572954	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		73572954	33776586	47	4237										
DICER1	23405	genome.wustl.edu	37	chr14	95574781	95574781	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gtagttaaaaccattcctatCacatacaggtaacagggctg	8	9	1	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:95574781C>T	ENST00000526495.1	-	17	2607	c.2316G>A	c.(2314-2316)gtG>gtA	p.V772V	DICER1_ENST00000541352.1_Silent_p.V772V|DICER1_ENST00000527414.1_Silent_p.V772V|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000393063.1_Silent_p.V772V|DICER1_ENST00000343455.3_Silent_p.V772V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	772					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCATTCCTATCACATACAGGT	0.418			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													142	128	133					14																	95574781		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2316G>A	14.37:g.95574781C>T			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V772	ENST00000526495.1	37	c.2316	CCDS9931.1	14																																																																																			DICER1	-	NULL		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	C			95574781	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95574781	C	T	95574781	2	4	29	1	0	0	0	0	0	0	0	1	4531	813	29	1		1	DICER1	14	95574781	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	22001827	95574781	11774759	48	4238										
DEGS2	123099	genome.wustl.edu	37	chr14	100615443	100615443	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	aacatgtagtgctcggccacGaagtggcccgagatggggtg	16	9	0	1	rs145891510		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																																	2	Substitution - coding silent(2)	lung(2)						G		0,4406		0,0,2203	61	73	69		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A				Silent	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.F229	ENST00000305631.5	37	c.687	CCDS9956.1	14																																																																																			DEGS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase		0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS2	HGNC	protein_coding	OTTHUMT00000414003.1	G	NM_206918		100615443	-1	no_errors	ENST00000305631	ensembl	human	known	70_37	silent	SNP	0.994	A	A	100615443	G	A	100615443	2	1	29	1	0	0	0	0	0	0	0	1	4433	1049	37	1		1	DEGS2	14	100615443	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	5040662	100615443	6734097	49	4239										
AHNAK2	113146	genome.wustl.edu	37	chr14	105420220	105420220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cacccttcaggccagtacccGcttttgaggacgcatcctgt	9	15	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:105420220G>A	ENST00000333244.5	-	7	1687	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	523						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAGTACCCGCTTTTGAGGA	0.547																																																	0													102	109	107					14																	105420220		1997	4148	6145	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1568C>T	14.37:g.105420220G>A	ENSP00000353114:p.Ala523Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A523V	ENST00000333244.5	37	c.1568	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	12.74	2.027668	0.35797	.	.	ENSG00000185567	ENST00000333244	T	0.03094	4.05	4.71	-5.6	0.02497	.	.	.	.	.	T	0.01222	0.0040	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47368	-0.9123	9	0.17832	T	0.49	.	0.9585	0.01390	0.3062:0.2179:0.3141:0.1618	.	523	Q8IVF2	AHNK2_HUMAN	V	523	ENSP00000353114:A523V	ENSP00000353114:A523V	A	-	2	0	AHNAK2	104491265	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.909000	0.00337	-1.029000	0.03317	-1.613000	0.00800	GCG	AHNAK2	-	NULL		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105420220	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	A	A	105420220	G	A	105420220	3	1	29	1	0	0	0	0	1	0	0	0	415	1087	38	2	15823	2	AHNAK2	14	105420220	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	4804777	105420220	1929320	50	4240										
TRPM1	4308	genome.wustl.edu	37	chr15	31295003	31295003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tcaaataataactcttctccGttaaaatgatatcgatacaa	3	8	3	1	rs374471543		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr15:31295003G>A	ENST00000256552.6	-	28	4047	c.3900C>T	c.(3898-3900)aaC>aaT	p.N1300N	TRPM1_ENST00000397795.2_Silent_p.N1278N|TRPM1_ENST00000542188.1_Silent_p.N1317N|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.N1278N(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTCTTCTCCGTTAAAATGAT	0.468																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,3956		0,0,1978	77	74	75		3834	-5.1	0	15		75	1,8333		0,1,4166	no	coding-synonymous	TRPM1	NM_002420.4		0,1,6144	AA,AG,GG		0.012,0.0,0.0081		1278/1604	31295003	1,12289	1978	4167	6145	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3900C>T	15.37:g.31295003G>A				Silent	SNP	pfam_Ion_trans_dom	p.N1317	ENST00000256552.6	37	c.3951	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31295003	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	0.024	A	A	31295003	G	A	31295003	2	1	29	1	0	0	0	0	0	0	0	1	16616	1136	40	2		2	TRPM1	15	31295003	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		31295003	71236389	51	4241										
GPR139	124274	genome.wustl.edu	37	chr16	20043656	20043656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gatgctggtcaggaagcaggTgatgtaaacacttacaatga	12	6	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:20043656T>C	ENST00000570682.1	-	2	763	c.463A>G	c.(463-465)Acc>Gcc	p.T155A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGAAGCAGGTGATGTAAACA	0.522																																																	0													187	139	155					16																	20043656		2203	4300	6503	SO:0001583	missense	124274			AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.463A>G	16.37:g.20043656T>C	ENSP00000458791:p.Thr155Ala		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T155A	ENST00000570682.1	37	c.463	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	T	0.090	-1.169248	0.01660	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.221404	0.47852	N	0.000220	T	0.18215	0.0437	N	0.02539	-0.55	0.31613	N	0.651286	B	0.02656	0.0	B	0.10450	0.005	T	0.13980	-1.0489	9	0.19147	T	0.46	-47.152	10.9208	0.47163	0.0:0.0733:0.0:0.9267	.	155	Q6DWJ6	GP139_HUMAN	A	155	.	ENSP00000370779:T155A	T	-	1	0	GPR139	19951157	1.000000	0.71417	0.904000	0.35570	0.520000	0.34377	3.563000	0.53784	1.002000	0.39104	0.533000	0.62120	ACC	GPR139	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.522	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	T	NM_001002911		20043656	-1	no_errors	ENST00000570682	ensembl	human	known	70_37	missense	SNP	0.991	C	C	20043656	T	C	20043656	3	2	29	1	0	0	0	0	1	0	0	0	6667	1696	59	5	602	5	GPR139	16	20043656	Missense_Mutation	SNP	T	TCGA-C5-A2LS-01A-22D-A22X-09		20043656	70311097	52	4242										
FBRS	64319	genome.wustl.edu	37	chr16	30680445	30680445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ctcctgctactcccaaggccCgggctggtgaggaggggcct	15	14	0	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:30680445C>T	ENST00000287468.5	+	12	1125	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FBRS_ENST00000568722.1_Missense_Mutation_p.R200W|FBRS_ENST00000395073.2_Missense_Mutation_p.R200W|FBRS_ENST00000356166.6_Missense_Mutation_p.R808W	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	288										ovary(1)	1			Colorectal(24;0.103)			TCCCAAGGCCCGGGCTGGTGA	0.677																																																	0													7	7	7					16																	30680445		2176	4272	6448	SO:0001583	missense	64319			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.862C>T	16.37:g.30680445C>T	ENSP00000287468:p.Arg288Trp		B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.R808W	ENST00000287468.5	37	c.2422		16	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800033	0.50208	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.37411	1.2	4.98	1.84	0.25277	.	0.000000	0.64402	D	0.000008	T	0.43456	0.1248	L	0.34521	1.04	0.29991	N	0.816886	D	0.76494	0.999	P	0.62089	0.898	T	0.47289	-0.9129	10	0.62326	D	0.03	-4.8373	13.0466	0.58931	0.4322:0.5678:0.0:0.0	.	288	Q9HAH7	FBRS_HUMAN	W	808;288;200	ENSP00000348489:R808W	ENSP00000287468:R288W	R	+	1	2	FBRS	30587946	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.162000	0.50755	0.248000	0.21435	-0.310000	0.09108	CGG	FBRS	-	NULL		0.677	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		C	NM_022452		30680445	1	no_errors	ENST00000356166	ensembl	human	known	70_37	missense	SNP	0.998	T	T	30680445	C	T	30680445	3	4	29	1	0	0	0	0	1	0	0	0	5725	643	23	2	904	2	FBRS	16	30680445	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	10636789	30680445	59674308	53	4243										
LONP2	83752	genome.wustl.edu	37	chr16	48385539	48385539	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gcggcacacagagcgggactGaagcaagtcattattcctcg	12	11	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:48385539G>A	ENST00000285737.4	+	15	2478	c.2385G>A	c.(2383-2385)ctG>ctA	p.L795L	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.L751L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGCGGGACTGAAGCAAGTCA	0.458																																																	0													72	74	73					16																	48385539		2200	4300	6500	SO:0001819	synonymous_variant	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2385G>A	16.37:g.48385539G>A				Silent	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.L795	ENST00000285737.4	37	c.2385	CCDS10734.1	16																																																																																			LONP2	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon		0.458	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	G	NM_031490		48385539	1	no_errors	ENST00000285737	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48385539	G	A	48385539	2	1	29	1	0	0	0	0	0	0	0	1	8916	1277	45	1		1	LONP2	16	48385539	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	17705094	48385539	41969214	54	4244										
KIFC3	3801	genome.wustl.edu	37	chr16	57795349	57795349	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ttgatgtcgtccacgctctgCacttggaactcagtcagccc	9	14	3	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:57795349C>A	ENST00000379655.4	-	14	2105	c.1848G>T	c.(1846-1848)gtG>gtT	p.V616V	KIFC3_ENST00000562903.1_Silent_p.V477V|KIFC3_ENST00000465878.2_Silent_p.V477V|KIFC3_ENST00000421376.2_Silent_p.V477V|KIFC3_ENST00000540079.2_Silent_p.V514V|KIFC3_ENST00000445690.2_Silent_p.V616V|KIFC3_ENST00000539578.1_Silent_p.V558V|KIFC3_ENST00000541240.1_Silent_p.V638V|KIFC3_ENST00000543930.1_Silent_p.V474V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	616	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCACGCTCTGCACTTGGAACT	0.582																																																	0													129	112	118					16																	57795349		2198	4300	6498	SO:0001819	synonymous_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1848G>T	16.37:g.57795349C>A			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V616	ENST00000379655.4	37	c.1848	CCDS10789.2	16																																																																																			KIFC3	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.582	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	C	NM_005550		57795349	-1	no_errors	ENST00000379655	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57795349	C	A	57795349	2	1	29	1	0	0	0	0	0	0	0	1	8334	697	25	4		4	KIFC3	16	57795349	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	9409810	57795349	32559404	55	4245										
SCARF1	8578	genome.wustl.edu	37	chr17	1543025	1543025	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	catggaaaccggctgggcagGaggcgttgcagctatggagt	17	8	0	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr17:1543025G>C	ENST00000263071.4	-	7	1200	c.1151C>G	c.(1150-1152)tCc>tGc	p.S384C	SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000571272.1_Missense_Mutation_p.S384C|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	384					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCTGGGCAGGAGGCGTTGCA	0.612																																																	0													49	42	44					17																	1543025		2202	4299	6501	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1151C>G	17.37:g.1543025G>C	ENSP00000263071:p.Ser384Cys		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.S384C	ENST00000263071.4	37	c.1151	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128300	0.37533	.	.	ENSG00000074660	ENST00000263071;ENST00000434376	T	0.33865	1.39	5.5	5.5	0.81552	Growth factor, receptor (1);	0.000000	0.44097	D	0.000490	T	0.65575	0.2704	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71184	0.972;0.936	T	0.71846	-0.4469	10	0.66056	D	0.02	-25.01	15.3824	0.74669	0.0:0.1398:0.8602:0.0	.	384;384	Q14162;Q14162-3	SREC_HUMAN;.	C	384	ENSP00000263071:S384C	ENSP00000263071:S384C	S	-	2	0	SCARF1	1489775	1.000000	0.71417	0.970000	0.41538	0.041000	0.13682	3.216000	0.51176	2.573000	0.86826	0.561000	0.74099	TCC	SCARF1	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.612	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	G	NM_003693		1543025	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	0.999	C	C	1543025	G	C	1543025	3	2	29	1	0	0	0	0	1	0	0	0	13913	1174	41	1	1361	1	SCARF1	17	1543025	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		1543025	79652185	56	4246										
TRIM37	4591	genome.wustl.edu	37	chr17	57106026	57106026	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tttagcatctttaaatcagaGggcactcgccacattgcctg	8	11	2	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr17:57106026G>T	ENST00000262294.7	-	19	2266	c.2007C>A	c.(2005-2007)ccC>ccA	p.P669P	TRIM37_ENST00000393066.3_Silent_p.P669P|TRIM37_ENST00000376149.3_Silent_p.P547P|TRIM37_ENST00000393065.2_Silent_p.P635P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	669					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTAAATCAGAGGGCACTCGCC	0.353									Mulibrey Nanism																																								0													110	107	108					17																	57106026		2203	4300	6503	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2007C>A	17.37:g.57106026G>T			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.P669	ENST00000262294.7	37	c.2007	CCDS32694.1	17																																																																																			TRIM37	-	NULL		0.353	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	G	NM_015294		57106026	-1	no_errors	ENST00000262294	ensembl	human	known	70_37	silent	SNP	0.997	T	T	57106026	G	T	57106026	2	4	29	1	0	0	0	0	0	0	0	1	16542	987	35	4		4	TRIM37	17	57106026	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	55563001	57106026	24089184	57	4247										
SERPINB11	89778	genome.wustl.edu	37	chr18	61390407	61390407	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ccaggtcaaagctgatctttCtggaatgtcaccaaccaagg	9	11	4	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr18:61390407C>T	ENST00000382749.5	+	0	1198				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTGATCTTTCTGGAATGTCA	0.478																																					Ovarian(27;496 784 5942 8975 23930)												0													43	43	43					18																	61390407		2162	4276	6438			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390407C>T			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S143F	ENST00000382749.5	37	c.428		18	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436571	0.83885	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.86366	-2.11;2.34;-2.11	5.05	5.05	0.67936	Serpin domain (3);	0.000000	0.53938	D	0.000043	D	0.96510	0.8861	H	0.98769	4.325	0.37083	D	0.899082	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.988;0.988;0.999	D	0.99947	1.1487	10	0.87932	D	0	.	17.7553	0.88446	0.0:1.0:0.0:0.0	.	143;116;231;318	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	F	318;116;143	ENSP00000441497:S318F;ENSP00000440795:S116F;ENSP00000441708:S143F	ENSP00000421854:S318F	S	+	2	0	SERPINB11	59541387	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	5.757000	0.68766	2.488000	0.83962	0.655000	0.94253	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.478	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61390407	1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61390407	C	T	61390407	1	4	29	0	1	0	0	0	0	0	0	0	14128	913	32	1		1	SERPINB11	18	61390407	RNA	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		61390407	16686841	58	4248										
FCGBP	8857	genome.wustl.edu	37	chr19	40382452	40382452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ggcacaaggccgtggcagggCgccagcgggccgtcggtggc	20	13	0	0	rs373319655		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr19:40382452C>T	ENST00000221347.6	-	22	10441	c.10434G>A	c.(10432-10434)gcG>gcA	p.A3478A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3478	VWFD 8. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGGCAGGGCGCCAGCGGGC	0.706																																																	0													2	2	2					19																	40382452		359	1168	1527	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10434G>A	19.37:g.40382452C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A3478	ENST00000221347.6	37	c.10434	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40382452	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.003	T	T	40382452	C	T	40382452	2	4	29	1	0	0	0	0	0	0	0	1	5796	755	27	2		2	FCGBP	19	40382452	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		40382452	18746531	59	4249										
NKX2-2	4821	genome.wustl.edu	37	chr20	21492910	21492910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tgaggctggccaggtgttcgCgctcgggcgccgacaggtac	17	12	0	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr20:21492910C>T	ENST00000377142.4	-	2	829	c.473G>A	c.(472-474)cGc>cAc	p.R158H	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	158					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGTGTTCGCGCTCGGGCGC	0.652																																																	0													30	32	31					20																	21492910		2202	4300	6502	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.473G>A	20.37:g.21492910C>T	ENSP00000366347:p.Arg158His			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R158H	ENST00000377142.4	37	c.473	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.100426	0.94245	.	.	ENSG00000125820	ENST00000377142	D	0.97505	-4.41	4.98	4.98	0.66077	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98768	1.0727	10	0.87932	D	0	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	158	O95096	NKX22_HUMAN	H	158	ENSP00000366347:R158H	ENSP00000366347:R158H	R	-	2	0	NKX2-2	21440910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.045000	0.71020	2.291000	0.77112	0.462000	0.41574	CGC	NKX2-2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.652	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	C			21492910	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21492910	C	T	21492910	3	4	29	1	0	0	0	0	1	0	0	0	10474	768	27	2	352	2	NKX2-2	20	21492910	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09		21492910	41532610	60	4250										
ASXL1	171023	genome.wustl.edu	37	chr20	31024506	31024506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ctcttcctgctgagatccctCcagtttttcccagtgggaag	9	13	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr20:31024506C>T	ENST00000375687.4	+	13	4415	c.3991C>T	c.(3991-3993)Cca>Tca	p.P1331S	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1326S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1331					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGAGATCCCTCCAGTTTTTCC	0.567			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													42	45	44					20																	31024506		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3991C>T	20.37:g.31024506C>T	ENSP00000364839:p.Pro1331Ser		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.P1331S	ENST00000375687.4	37	c.3991	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146576	0.21288	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.19532	2.15;2.14	4.56	2.37	0.29283	.	0.357642	0.27245	N	0.020256	T	0.12689	0.0308	L	0.34521	1.04	0.38918	D	0.957681	B;B	0.33857	0.429;0.429	B;B	0.27170	0.077;0.077	T	0.13926	-1.0491	10	0.33141	T	0.24	-5.5102	8.2159	0.31511	0.1503:0.7627:0.0:0.0869	.	1326;1331	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	1331;1331;1331;1252;1326	ENSP00000364839:P1331S;ENSP00000305119:P1326S	ENSP00000305119:P1326S	P	+	1	0	ASXL1	30488167	0.619000	0.27059	0.968000	0.41197	0.537000	0.34900	1.099000	0.31013	0.721000	0.32231	-0.310000	0.09108	CCA	ASXL1	-	NULL		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	C	NM_015338		31024506	1	no_errors	ENST00000375687	ensembl	human	known	70_37	missense	SNP	0.996	T	T	31024506	C	T	31024506	3	4	29	1	0	0	0	0	1	0	0	0	1067	855	30	1	4047	1	ASXL1	20	31024506	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	9531596	31024506	32001014	61	4251										
HDHD1A	8226	genome.wustl.edu	37	chrX	6995415	6995415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ggcttgtcttcatatcgaacGacgcggaccccgagctggtg	13	12	2	0			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:6995415G>A	ENST00000381077.5	-	3	432	c.356C>T	c.(355-357)tCg>tTg	p.S119L	HDHD1_ENST00000540122.1_Missense_Mutation_p.S119L|HDHD1_ENST00000424830.2_Missense_Mutation_p.S142L|HDHD1_ENST00000412827.2_Missense_Mutation_p.S76L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	119					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CATATCGAACGACGCGGACCC	0.587																																																	0													44	46	45					X																	6995415		2055	4175	6230	SO:0001583	missense	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.356C>T	X.37:g.6995415G>A	ENSP00000370467:p.Ser119Leu		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.S142L	ENST00000381077.5	37	c.425	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646191	0.47258	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	3.88	3.88	0.44766	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.292047	0.35407	N	0.003225	T	0.08935	0.0221	L	0.31578	0.945	0.26098	N	0.980863	D;P;B;P	0.76494	0.999;0.756;0.123;0.641	P;B;B;B	0.52793	0.709;0.064;0.096;0.102	T	0.28870	-1.0030	10	0.16420	T	0.52	-16.4982	14.2329	0.65906	0.0:0.0:1.0:0.0	.	119;76;142;119	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	L	119;135;76;142;119;119	ENSP00000370467:S119L;ENSP00000406260:S76L;ENSP00000396452:S142L;ENSP00000441208:S119L;ENSP00000430995:S119L	ENSP00000370467:S119L	S	-	2	0	HDHD1	7005415	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	7.957000	0.87870	1.713000	0.51359	0.513000	0.50165	TCG	HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3		0.587	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		6995415	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	missense	SNP	0.413	A	A	6995415	G	A	6995415	3	1	29	1	0	0	0	0	1	0	0	0	7042	1059	37	1	459	1	HDHD1A	23	6995415	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09		6995415	148275145	62	4252										
FAM47A	158724	genome.wustl.edu	37	chrX	34149765	34149765	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	cttgggaggctccgggcttaGatgggacactccagtctcgg	15	11	1	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:34149765G>A	ENST00000346193.3	-	1	682	c.631C>T	c.(631-633)Cta>Tta	p.L211L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	211	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCGGGCTTAGATGGGACACT	0.632																																																	0													40	43	42					X																	34149765		2200	4298	6498	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.631C>T	X.37:g.34149765G>A			A8K8I9|Q8TAA0	Silent	SNP	NULL	p.L211	ENST00000346193.3	37	c.631	CCDS43926.1	X																																																																																			FAM47A	-	NULL		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	G	NM_203408		34149765	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	silent	SNP	0.001	A	A	34149765	G	A	34149765	2	1	29	1	0	0	0	0	0	0	0	1	5587	933	33	1		1	FAM47A	23	34149765	Silent	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	27154350	34149765	121120795	63	4253										
SRPX	8406	genome.wustl.edu	37	chrX	38031228	38031228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	tatcctggtgaacaataataCtcacaccgggagttaaagta	8	8	1	1	rs141477282	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:38031228C>T	ENST00000378533.3	-	4	538	c.432G>A	c.(430-432)gaG>gaA	p.E144E	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Silent_p.E131E|SRPX_ENST00000538295.1_Silent_p.E144E|SRPX_ENST00000432886.2_Intron|SRPX_ENST00000544439.1_Silent_p.E124E	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	144	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AACAATAATACTCACACCGGG	0.502													C|||	1	0.000264901	0	0	3775	,	,		15075	0		0.001	False		,,,				2504	0																0								C	,,,	0,3833		0,0,0,1631,571	118	100	106		372,,432,432	5	1	X	dbSNP_134	106	9,6719		0,7,2,2421,1870	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	,,,	0,7,2,4052,2441	TT,TC,T,CC,C		0.1338,0.0,0.0852	,,,	124/445,,144/380,144/465	38031228	9,10552	2202	4300	6502	SO:0001819	synonymous_variant	8406			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.432G>A	X.37:g.38031228C>T			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.E144	ENST00000378533.3	37	c.432	CCDS14245.1	X																																																																																			SRPX	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	C	NM_006307		38031228	-1	no_errors	ENST00000378533	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38031228	C	T	38031228	2	4	29	1	0	0	0	0	0	0	0	1	15194	564	20	4		4	SRPX	23	38031228	Silent	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	3881463	38031228	117239332	64	4254										
KIF4A	24137	genome.wustl.edu	37	chrX	69615617	69615617	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	atagaaagatcctggctcaaGatgtggctcaactcaaagaa	9	8	3	4			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:69615617G>T	ENST00000374403.3	+	21	2411	c.2329G>T	c.(2329-2331)Gat>Tat	p.D777Y	RNY4P23_ENST00000364507.1_RNA|KIF4A_ENST00000374388.3_Missense_Mutation_p.D777Y	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	777	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D777H(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTGGCTCAAGATGTGGCTCA	0.433																																																	1	Substitution - Missense(1)	breast(1)											69	63	65					X																	69615617		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2329G>T	X.37:g.69615617G>T	ENSP00000363524:p.Asp777Tyr		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D777Y	ENST00000374403.3	37	c.2329	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	g	22.7	4.328832	0.81690	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70631	-0.5;-0.45	5.3	5.3	0.74995	.	0.090322	0.48286	D	0.000193	T	0.78622	0.4312	L	0.54323	1.7	0.53005	D	0.999965	D	0.62365	0.991	P	0.59643	0.861	T	0.77525	-0.2555	9	.	.	.	.	16.9292	0.86186	0.0:0.0:1.0:0.0	.	777	O95239	KIF4A_HUMAN	Y	777;777;79	ENSP00000363509:D777Y;ENSP00000363524:D777Y	.	D	+	1	0	KIF4A	69532342	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.822000	0.92013	2.464000	0.83262	0.591000	0.81541	GAT	KIF4A	-	NULL		0.433	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69615617	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69615617	G	T	69615617	3	4	29	1	0	0	0	0	1	0	0	0	8323	942	33	3	2407	3	KIF4A	23	69615617	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	31584389	69615617	85654943	65	4255										
TBX22	50945	genome.wustl.edu	37	chrX	79279576	79279576	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	ttacaggcggatgttcccctCtgttcgggtcaaggtgaaag	13	9	2	1			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:79279576C>T	ENST00000373294.5	+	3	399	c.371C>T	c.(370-372)tCt>tTt	p.S124F	TBX22_ENST00000442340.1_Missense_Mutation_p.S4F|TBX22_ENST00000373296.3_Missense_Mutation_p.S124F|TBX22_ENST00000373291.1_Missense_Mutation_p.S4F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	124					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTTCCCCTCTGTTCGGGTC	0.498																																																	0													133	107	116					X																	79279576		2203	4300	6503	SO:0001583	missense	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.371C>T	X.37:g.79279576C>T	ENSP00000362390:p.Ser124Phe		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S124F	ENST00000373294.5	37	c.371	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359447	0.82353	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.71	4.71	0.59529	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90829	0.4715	10	0.72032	D	0.01	.	15.3728	0.74581	0.0:1.0:0.0:0.0	.	124	Q9Y458	TBX22_HUMAN	F	124;4;124;4	ENSP00000362393:S124F;ENSP00000396394:S4F;ENSP00000362390:S124F;ENSP00000362388:S4F	ENSP00000362388:S4F	S	+	2	0	TBX22	79166232	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.001000	0.76297	1.922000	0.55676	0.594000	0.82650	TCT	TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.498	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	C	NM_016954		79279576	1	no_errors	ENST00000373294	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79279576	C	T	79279576	3	4	29	1	0	0	0	0	1	0	0	0	15688	913	32	1	381	1	TBX22	23	79279576	Missense_Mutation	SNP	C	TCGA-C5-A2LS-01A-22D-A22X-09	9663959	79279576	75990984	66	4256										
CXorf57	55086	genome.wustl.edu	37	chrX	105905424	105905424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	aacacagaaagtttcttagtGaccagtataattctcagcct	6	9	2	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:105905424G>A	ENST00000372548.4	+	12	2267	c.2158G>A	c.(2158-2160)Gac>Aac	p.D720N	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Missense_Mutation_p.D623N	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	720							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTCTTAGTGACCAGTATAA	0.403																																																	0													82	76	78					X																	105905424		2203	4300	6503	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2158G>A	X.37:g.105905424G>A	ENSP00000361628:p.Asp720Asn		H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.D720N	ENST00000372548.4	37	c.2158	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344735	0.24426	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.42131	0.98;0.99;0.98	4.93	0.95	0.19572	.	0.558173	0.20542	N	0.090281	T	0.22166	0.0534	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18398	-1.0338	10	0.56958	D	0.05	0.5685	10.852	0.46775	0.1128:0.4277:0.4595:0.0	.	720;720	A8K6R5;Q6NSI4	.;CX057_HUMAN	N	623;720;431	ENSP00000361623:D623N;ENSP00000361628:D720N;ENSP00000405866:D431N	ENSP00000361623:D623N	D	+	1	0	CXorf57	105792080	0.026000	0.19158	0.051000	0.19133	0.569000	0.35902	-0.016000	0.12613	-0.079000	0.12707	-0.209000	0.12711	GAC	CXorf57	-	NULL		0.403	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	G	NM_018015		105905424	1	no_errors	ENST00000372548	ensembl	human	known	70_37	missense	SNP	0.066	A	A	105905424	G	A	105905424	3	1	29	1	0	0	0	0	1	0	0	0	4118	1290	45	1	2204	1	CXorf57	23	105905424	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	26625848	105905424	49365136	67	4257										
NSDHL	50814	genome.wustl.edu	37	chrX	152018902	152018902	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.235294117647059	16	0.000676594819250638	2.50709219858156	3.76063829787234	2.32801418439716	0.00305644910761707	0.016470864635492	10	gatatgctgtcaatgtatttGatatccagcaagggtttgat	10	5	1	2			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:152018902G>C	ENST00000370274.3	+	3	396	c.202G>C	c.(202-204)Gat>Cat	p.D68H	NSDHL_ENST00000440023.1_Missense_Mutation_p.D68H	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	68					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAATGTATTTGATATCCAGCA	0.532																																																	0													235	216	222					X																	152018902		2203	4300	6503	SO:0001583	missense	50814			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.202G>C	X.37:g.152018902G>C	ENSP00000359297:p.Asp68His		D3DWT6|O00344	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.D68H	ENST00000370274.3	37	c.202	CCDS14717.1	X	.	.	.	.	.	.	.	.	.	.	g	16.85	3.237067	0.58886	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.90620	-2.7;-2.7;-2.7	5.51	5.51	0.81932	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.043704	0.85682	D	0.000000	D	0.96741	0.8936	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97882	1.0292	10	0.87932	D	0	-15.9848	15.7447	0.77929	0.0:0.0:1.0:0.0	.	68	Q15738	NSDHL_HUMAN	H	68	ENSP00000359297:D68H;ENSP00000391854:D68H;ENSP00000396266:D68H	ENSP00000359297:D68H	D	+	1	0	NSDHL	151769558	1.000000	0.71417	0.045000	0.18777	0.217000	0.24651	9.167000	0.94773	2.316000	0.78162	0.534000	0.68092	GAT	NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_NmrA		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	G	NM_015922		152018902	1	no_errors	ENST00000370274	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152018902	G	C	152018902	3	2	29	1	0	0	0	0	1	0	0	0	10694	1290	45	1	208	1	NSDHL	23	152018902	Missense_Mutation	SNP	G	TCGA-C5-A2LS-01A-22D-A22X-09	46113478	152018902	3251658	68	4258										
KCNJ13	3769	genome.wustl.edu	37	chr2	233633435	233633435	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	tggaagataagattaggtttGccatccatgtgagctactac	10	7	0	3			TCGA-C5-A2LT-01A-11D-A18J-09	TCGA-C5-A2LT-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f6b355e-3898-4be6-be97-da0c3840a4ed	aff606ff-0c62-4adf-b137-275bf4aafa5a	g.chr2:233633435G>T	ENST00000233826.3	-	3	688	c.549C>A	c.(547-549)ggC>ggA	p.G183G	GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000410029.1_Silent_p.G183G|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409547.1_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	183					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATTAGGTTTGCCATCCATGT	0.458																																																	0													121	123	122					2																	233633435		2203	4300	6503	SO:0001819	synonymous_variant	3769			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.549C>A	2.37:g.233633435G>T			A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7,prints_K_chnl_inward-rec_Kir	p.G183	ENST00000233826.3	37	c.549	CCDS2498.1	2																																																																																			KCNJ13	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7		0.458	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ13	HGNC	protein_coding	OTTHUMT00000257036.1	G	NM_002242		233633435	-1	no_errors	ENST00000233826	ensembl	human	known	70_37	silent	SNP	1.000	T	T	233633435	G	T	233633435	2	4	30	1	0	0	0	0	0	0	0	1	8067	1306	46	4		4	KCNJ13	2	233633435	Silent	SNP	G	TCGA-C5-A2LT-01A-11D-A18J-09		233633435	9565938	1	4259										
ABCA2	20	genome.wustl.edu	37	chr9	139915379	139915379	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	gcaccctggggcagtagcagGgccagggccgacaggacatc	16	13	0	0			TCGA-C5-A2LT-01A-11D-A18J-09	TCGA-C5-A2LT-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f6b355e-3898-4be6-be97-da0c3840a4ed	aff606ff-0c62-4adf-b137-275bf4aafa5a	g.chr9:139915379G>T	ENST00000371605.3	-	8	1176	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	ABCA2_ENST00000341511.6_Silent_p.A344A|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Silent_p.A344A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	343					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGTAGCAGGGCCAGGGCCG	0.716																																																	0													4	6	6					9																	139915379		1865	3993	5858	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1029C>A	9.37:g.139915379G>T			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A344	ENST00000371605.3	37	c.1032		9																																																																																			ABCA2	-	NULL		0.716	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		G	NM_001606		139915379	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	silent	SNP	0.997	T	T	139915379	G	T	139915379	2	4	30	1	0	0	0	0	0	0	0	1	32	1219	43	4		4	ABCA2	9	139915379	Silent	SNP	G	TCGA-C5-A2LT-01A-11D-A18J-09		139915379	1298052	2	4260										
PSMD9	5715	genome.wustl.edu	37	chr12	122353787	122353787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	cctgaatgtgacagtgatccGcaggggggaaaaacaccagc	13	10	0	3			TCGA-C5-A2LT-01A-11D-A18J-09	TCGA-C5-A2LT-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f6b355e-3898-4be6-be97-da0c3840a4ed	aff606ff-0c62-4adf-b137-275bf4aafa5a	g.chr12:122353787G>T	ENST00000541212.1	+	5	707	c.581G>T	c.(580-582)cGc>cTc	p.R194L	PSMD9_ENST00000261817.2_Missense_Mutation_p.R193L|RP11-87C12.2_ENST00000546333.1_Intron|WDR66_ENST00000288912.4_5'Flank|WDR66_ENST00000397454.2_5'Flank|PSMD9_ENST00000542602.1_Missense_Mutation_p.R89L			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	194	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACAGTGATCCGCAGGGGGGAA	0.478																																																	0													48	46	47					12																	122353787		2203	4300	6503	SO:0001583	missense	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.581G>T	12.37:g.122353787G>T	ENSP00000440485:p.Arg194Leu		B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.R194L	ENST00000541212.1	37	c.581	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594624	0.66219	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000261817;ENST00000544724;ENST00000542602	D;T;D;T	0.86627	-2.15;0.78;-2.15;2.09	5.31	5.31	0.75309	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97927	1.0318	10	0.87932	D	0	-21.8991	15.736	0.77842	0.0:0.0:1.0:0.0	.	194	O00233	PSMD9_HUMAN	L	194;193;105;89	ENSP00000440485:R194L;ENSP00000261817:R193L;ENSP00000443929:R105L;ENSP00000443772:R89L	ENSP00000261817:R193L	R	+	2	0	RP11-87C12.2;PSMD9	120838170	1.000000	0.71417	0.991000	0.47740	0.069000	0.16628	5.024000	0.64090	2.484000	0.83849	0.655000	0.94253	CGC	PSMD9	-	superfamily_PDZ,smart_PDZ		0.478	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	G	NM_002813		122353787	1	no_errors	ENST00000541212	ensembl	human	known	70_37	missense	SNP	0.992	T	T	122353787	G	T	122353787	3	4	30	1	0	0	0	0	1	0	0	0	12732	1087	38	2	599	2	PSMD9	12	122353787	Missense_Mutation	SNP	G	TCGA-C5-A2LT-01A-11D-A18J-09		122353787	11498108	3	4261										
IGFL4	444882	genome.wustl.edu	37	chr19	46543439	46543439	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	gcacagatcctggtgataggGgaggacttgcaatctggctt	14	8	1	2			TCGA-C5-A2LT-01A-11D-A18J-09	TCGA-C5-A2LT-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f6b355e-3898-4be6-be97-da0c3840a4ed	aff606ff-0c62-4adf-b137-275bf4aafa5a	g.chr19:46543439G>T	ENST00000377697.1	-	3	359	c.306C>A	c.(304-306)tcC>tcA	p.S102S	IGFL4_ENST00000595006.1_5'Flank|IGFL4_ENST00000601672.1_Silent_p.S8S	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	102						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TGGTGATAGGGGAGGACTTGC	0.582																																																	0													103	101	102					19																	46543439		2203	4300	6503	SO:0001819	synonymous_variant	444882			AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.306C>A	19.37:g.46543439G>T				Silent	SNP	NULL	p.S102	ENST00000377697.1	37	c.306	CCDS33057.1	19																																																																																			IGFL4	-	NULL		0.582	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFL4	HGNC	protein_coding	OTTHUMT00000461698.1	G	NM_001002923		46543439	-1	no_errors	ENST00000377697	ensembl	human	known	70_37	silent	SNP	0.001	T	T	46543439	G	T	46543439	2	4	30	1	0	0	0	0	0	0	0	1	7609	1219	43	4		4	IGFL4	19	46543439	Silent	SNP	G	TCGA-C5-A2LT-01A-11D-A18J-09		46543439	12585544	4	4262										
ALG13	79868	genome.wustl.edu	37	chrX	110988036	110988036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	ctcctcctcctcctcctcctGctcttgatgtgggagagact	8	16	1	2			TCGA-C5-A2LT-01A-11D-A18J-09	TCGA-C5-A2LT-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f6b355e-3898-4be6-be97-da0c3840a4ed	aff606ff-0c62-4adf-b137-275bf4aafa5a	g.chrX:110988036G>T	ENST00000394780.3	+	24	2848	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	946	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						tcctcctcctgctcTTGATGT	0.567																																																	0													47	34	38					X																	110988036		1567	3579	5146	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2836G>T	X.37:g.110988036G>T	ENSP00000378260:p.Ala946Ser		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.A946S	ENST00000394780.3	37	c.2836	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	3.833	-0.035362	0.07497	.	.	ENSG00000101901	ENST00000394780	T	0.14766	2.48	4.28	-2.32	0.06745	.	0.890365	0.08781	U	0.894689	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39860	-0.9593	10	0.26408	T	0.33	0.6604	1.9557	0.03375	0.1269:0.2411:0.375:0.257	.	868;946	Q9NP73-3;Q9NP73	.;ALG13_HUMAN	S	946	ENSP00000378260:A946S	ENSP00000378260:A946S	A	+	1	0	ALG13	110874692	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.461000	0.06712	-0.887000	0.03961	-0.427000	0.05922	GCT	ALG13	-	NULL		0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		110988036	1	no_errors	ENST00000394780	ensembl	human	putative	70_37	missense	SNP	0.003	T	T	110988036	G	T	110988036	3	4	30	1	0	0	0	0	1	0	0	0	515	1319	46	4	3072	4	ALG13	23	110988036	Missense_Mutation	SNP	G	TCGA-C5-A2LT-01A-11D-A18J-09		110988036	44282524	5	4263										
SYVN1	84447	genome.wustl.edu	37	chr11	64897750	64897750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	ggtggatggaggagccacagCctctcctgagctggggggag	19	9	1	1			TCGA-C5-A2LV-01A-11D-A18J-09	TCGA-C5-A2LV-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3269608c-5dd7-452a-976a-31ac971aac2f	28fa35ae-f144-4ef0-918e-fe72471c8101	g.chr11:64897750C>A	ENST00000377190.3	-	12	1301	c.1207G>T	c.(1207-1209)Gct>Tct	p.A403S	SYVN1_ENST00000294256.8_Missense_Mutation_p.A403S|SYVN1_ENST00000307289.6_Missense_Mutation_p.A352S|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.A403S	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	403	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGAGCCACAGCCTCTCCTGAG	0.647																																																	0													12	14	13					11																	64897750		2191	4292	6483	SO:0001583	missense	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1207G>T	11.37:g.64897750C>A	ENSP00000366395:p.Ala403Ser		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A403S	ENST00000377190.3	37	c.1207	CCDS31605.1	11	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529889	0.27387	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.10477	2.87;2.87;3.01;2.87	4.53	3.6	0.41247	.	0.269402	0.35466	N	0.003181	T	0.08044	0.0201	L	0.27053	0.805	0.36469	D	0.86714	B;B;B	0.22683	0.008;0.073;0.043	B;B;B	0.27608	0.015;0.081;0.037	T	0.20638	-1.0269	10	0.11794	T	0.64	-5.7322	12.2109	0.54379	0.0:0.8263:0.1737:0.0	.	352;403;403	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	S	403;403;403;352;403	ENSP00000366395:A403S;ENSP00000294256:A403S;ENSP00000302035:A352S;ENSP00000436984:A403S	ENSP00000294256:A403S	A	-	1	0	SYVN1	64654326	0.985000	0.35326	0.966000	0.40874	0.956000	0.61745	1.154000	0.31688	1.097000	0.41459	0.561000	0.74099	GCT	SYVN1	-	NULL		0.647	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1	C	NM_032431		64897750	-1	no_errors	ENST00000377190	ensembl	human	known	70_37	missense	SNP	0.973	A	A	64897750	C	A	64897750	3	1	31	1	0	0	0	0	1	0	0	0	15517	739	26	4	666	4	SYVN1	11	64897750	Missense_Mutation	SNP	C	TCGA-C5-A2LV-01A-11D-A18J-09		64897750	70108766	1	4264										
MLL4	9757	genome.wustl.edu	37	chr19	36211933	36211933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	caaaggtggaggtctcacctGtcctgcgacctcccattacc	9	15	1	0			TCGA-C5-A2LV-01A-11D-A18J-09	TCGA-C5-A2LV-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3269608c-5dd7-452a-976a-31ac971aac2f	28fa35ae-f144-4ef0-918e-fe72471c8101	g.chr19:36211933G>T	ENST00000222270.7	+	3	1684	c.1684G>T	c.(1684-1686)Gtc>Ttc	p.V562F	KMT2B_ENST00000420124.1_Missense_Mutation_p.V562F|KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	562	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTCTCACCTGTCCTGCGACC	0.617																																																	0													42	49	47					19																	36211933		2005	4173	6178	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1684G>T	19.37:g.36211933G>T	ENSP00000222270:p.Val562Phe		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.V562F	ENST00000222270.7	37	c.1684	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	1.039	-0.679430	0.03353	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83673	-1.75;-1.75	4.48	-1.25	0.09405	.	0.990930	0.08172	N	0.986806	T	0.61578	0.2358	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.47381	-0.9122	10	0.07990	T	0.79	.	8.1799	0.31305	0.2251:0.1596:0.6153:0.0	.	562	Q9UMN6	MLL4_HUMAN	F	562	ENSP00000222270:V562F;ENSP00000398837:V562F	ENSP00000222270:V562F	V	+	1	0	AD000671.1	40903773	0.001000	0.12720	0.546000	0.28166	0.471000	0.32888	-0.371000	0.07513	-0.064000	0.13043	-0.378000	0.06908	GTC	WBP7	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36211933	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	0.018	T	T	36211933	G	T	36211933	3	4	31	1	0	0	0	0	1	0	0	0	9646	1377	48	4	1694	4	MLL4	19	36211933	Missense_Mutation	SNP	G	TCGA-C5-A2LV-01A-11D-A18J-09		36211933	22917050	2	4265										
KIAA0562	9731	genome.wustl.edu	37	chr1	3746490	3746490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gaagcctggtgctgtctgtaCatgtccaaaataattcgaac	9	9	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:3746490C>A	ENST00000378230.3	-	14	2232	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	636						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTCTGTACATGTCCAAAA	0.483																																																	0													133	128	130					1																	3746490		2203	4300	6503	SO:0001583	missense	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1908G>T	1.37:g.3746490C>A	ENSP00000367476:p.Met636Ile		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.M636I	ENST00000378230.3	37	c.1908	CCDS30571.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569897	0.45798	.	.	ENSG00000116198	ENST00000378230	T	0.63096	-0.02	5.46	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.324016	0.36893	N	0.002342	T	0.56470	0.1987	M	0.62723	1.935	0.80722	D	1	B	0.19706	0.038	B	0.21151	0.033	T	0.53041	-0.8494	10	0.32370	T	0.25	.	9.3113	0.37908	0.0:0.7796:0.1437:0.0766	.	636	O60308	CE104_HUMAN	I	636	ENSP00000367476:M636I	ENSP00000367476:M636I	M	-	3	0	CEP104	3736350	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	2.918000	0.48829	1.304000	0.44892	0.655000	0.94253	ATG	CEP104	-	superfamily_ARM-type_fold		0.483	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	C	NM_014704		3746490	-1	no_errors	ENST00000378230	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3746490	C	A	3746490	3	1	32	1	0	0	0	0	1	0	0	0	8204	478	17	4	905	4	KIAA0562	1	3746490	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		3746490	245504131	1	4266										
PAX7	5081	genome.wustl.edu	37	chr1	19062470	19062470	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agctacaaggtggtgtcaggGtggggaatgtccatttcaca	14	7	2	0	rs564169781	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:19062470G>T	ENST00000375375.3	+	8	2098	c.1500G>T	c.(1498-1500)ggG>ggT	p.G500G	PAX7_ENST00000400661.3_Silent_p.G498G|PAX7_ENST00000420770.2_Intron	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	500					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		tggtgtcagggtggggaatgt	0.542			T	FOXO1A	alveolar rhabdomyosarcoma								G|||	2	0.000399361	0	0	5008	,	,		17362	0		0	False		,,,				2504	0.002							Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													34	30	32					1																	19062470		2203	4300	6503	SO:0001819	synonymous_variant	5081			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1500G>T	1.37:g.19062470G>T			E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.G500	ENST00000375375.3	37	c.1500	CCDS186.1	1																																																																																			PAX7	-	NULL		0.542	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	G	NM_002584		19062470	1	no_errors	ENST00000375375	ensembl	human	known	70_37	silent	SNP	0.007	T	T	19062470	G	T	19062470	2	4	32	1	0	0	0	0	0	0	0	1	11508	1248	44	4		4	PAX7	1	19062470	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	15315980	19062470	230188151	2	4267										
TRNAU1AP	54952	genome.wustl.edu	37	chr1	28897738	28897738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gatgtacagttatagctacaAccagtattatcagcagtacc	7	9	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:28897738A>C	ENST00000373830.3	+	7	607	c.581A>C	c.(580-582)aAc>aCc	p.N194T		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	194	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TATAGCTACAACCAGTATTAT	0.428																																																	0													186	154	165					1																	28897738		2203	4300	6503	SO:0001583	missense	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.581A>C	1.37:g.28897738A>C	ENSP00000362936:p.Asn194Thr		Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N194T	ENST00000373830.3	37	c.581	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582404	0.46006	.	.	ENSG00000180098	ENST00000373830	T	0.23552	1.9	5.87	5.87	0.94306	.	0.195722	0.53938	D	0.000045	T	0.21022	0.0506	L	0.42245	1.32	0.46564	D	0.999107	B	0.30068	0.267	B	0.22386	0.039	T	0.04930	-1.0917	10	0.19590	T	0.45	.	13.6158	0.62108	1.0:0.0:0.0:0.0	.	194	Q9NX07	TSAP1_HUMAN	T	194	ENSP00000362936:N194T	ENSP00000362936:N194T	N	+	2	0	TRNAU1AP	28770325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	2.240000	0.73641	0.533000	0.62120	AAC	TRNAU1AP	-	NULL		0.428	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	A	NM_017846		28897738	1	no_errors	ENST00000373830	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28897738	A	C	28897738	3	2	32	1	0	0	0	0	1	0	0	0	16603	43	2	5	607	5	TRNAU1AP	1	28897738	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	9835268	28897738	220352883	3	4268										
STIL	6491	genome.wustl.edu	37	chr1	47726194	47726194	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tccttggaggaactatttaaTaggtggtttacttgaccctg	10	7	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:47726194T>A	ENST00000360380.3	-	17	3207	c.2844A>T	c.(2842-2844)ctA>ctT	p.L948L	STIL_ENST00000243182.6_Silent_p.L948L|STIL_ENST00000396221.2_Silent_p.L931L|STIL_ENST00000371877.3_Silent_p.L949L|STIL_ENST00000337817.5_Silent_p.L948L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	948					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AACTATTTAATAGGTGGTTTA	0.373																																																	0													118	117	117					1																	47726194		2203	4300	6503	SO:0001819	synonymous_variant	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2844A>T	1.37:g.47726194T>A			Q5T0C5|Q68CN9	Silent	SNP	NULL	p.L949	ENST00000360380.3	37	c.2847	CCDS548.1	1																																																																																			STIL	-	NULL		0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	T	NM_003035		47726194	-1	no_errors	ENST00000371877	ensembl	human	known	70_37	silent	SNP	0.165	A	A	47726194	T	A	47726194	2	1	32	1	0	0	0	0	0	0	0	1	15312	1393	49	5		5	STIL	1	47726194	Silent	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	18828456	47726194	201524427	4	4269										
GBP5	115362	genome.wustl.edu	37	chr1	89730576	89730576	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tctctctgagccaaggccagGactgcattctctatgcaagg	10	12	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:89730576G>A	ENST00000370459.3	-	7	1069	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Silent_p.V314V			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	314						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCAAGGCCAGGACTGCATTCT	0.498																																																	0													95	83	87					1																	89730576		2203	4300	6503	SO:0001819	synonymous_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.942C>T	1.37:g.89730576G>A			B2RCE1|Q86TM5	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.V314	ENST00000370459.3	37	c.942	CCDS722.1	1																																																																																			GBP5	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.498	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	G	NM_052942		89730576	-1	no_errors	ENST00000343435	ensembl	human	known	70_37	silent	SNP	0.036	A	A	89730576	G	A	89730576	2	1	32	1	0	0	0	0	0	0	0	1	6296	1161	41	1		1	GBP5	1	89730576	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	42004382	89730576	159520045	5	4270										
ABCA4	24	genome.wustl.edu	37	chr1	94473823	94473823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aactccgacacacagcctgtCcactgctgggctggaggtgc	12	14	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:94473823C>A	ENST00000370225.3	-	42	5952	c.5866G>T	c.(5866-5868)Gac>Tac	p.D1956Y	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.D226Y|ABCA4_ENST00000535881.1_Missense_Mutation_p.D75Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1956	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACAGCCTGTCCACTGCTGGG	0.567																																																	0													71	70	70					1																	94473823		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5866G>T	1.37:g.94473823C>A	ENSP00000359245:p.Asp1956Tyr		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.D1956Y	ENST00000370225.3	37	c.5866	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799768	0.70567	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.96830	-4.14;-4.14;-4.14	5.35	5.35	0.76521	ABC transporter-like (1);	0.049009	0.85682	D	0.000000	D	0.97300	0.9117	L	0.49455	1.56	0.80722	D	1	P;D	0.89917	0.889;1.0	B;D	0.80764	0.234;0.994	D	0.97507	1.0064	10	0.87932	D	0	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	75;1956	B4DX12;P78363	.;ABCA4_HUMAN	Y	748;1956;226;75	ENSP00000359245:D1956Y;ENSP00000439707:D226Y;ENSP00000443203:D75Y	ENSP00000359245:D1956Y	D	-	1	0	ABCA4	94246411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.662000	0.68032	2.941000	0.99782	0.655000	0.94253	GAC	ABCA4	-	pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94473823	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94473823	C	A	94473823	3	1	32	1	0	0	0	0	1	0	0	0	34	855	30	3	991	3	ABCA4	1	94473823	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	4743247	94473823	154776798	6	4271										
COL11A1	1301	genome.wustl.edu	37	chr1	103488543	103488543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttcagtaaatatttcttcaaCtggatttggctattaattta	5	5	3	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:103488543C>T	ENST00000370096.3	-	8	1312	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.V295I|COL11A1_ENST00000358392.2_Missense_Mutation_p.V346I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	334	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTCTTCAACTGGATTTGGC	0.318																																																	0													49	52	51					1																	103488543		2202	4295	6497	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1000G>A	1.37:g.103488543C>T	ENSP00000359114:p.Val334Ile		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.V346I	ENST00000370096.3	37	c.1036	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014689	0.35511	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88124	-2.34;-0.58;-2.31;-0.56	5.67	4.77	0.60923	.	0.368707	0.27473	N	0.019205	T	0.75766	0.3894	L	0.54323	1.7	0.43351	D	0.995419	P;P;B	0.35872	0.525;0.525;0.39	B;B;B	0.33454	0.115;0.164;0.079	T	0.76138	-0.3069	10	0.35671	T	0.21	.	12.9234	0.58245	0.0:0.925:0.0:0.075	.	295;346;334	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	I	334;346;295;346	ENSP00000359114:V334I;ENSP00000351163:V346I;ENSP00000302551:V295I;ENSP00000408640:V346I	ENSP00000302551:V295I	V	-	1	0	COL11A1	103261131	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.937000	0.40193	1.399000	0.46721	0.643000	0.83706	GTT	COL11A1	-	NULL		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103488543	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103488543	C	T	103488543	3	4	32	1	0	0	0	0	1	0	0	0	3672	565	20	4	4660	4	COL11A1	1	103488543	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	9014720	103488543	145762078	7	4272										
NOTCH2	4853	genome.wustl.edu	37	chr1	120458453	120458453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aatggggggcaagggctcccGaggggtggttatgtgcttcc	18	8	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:120458453G>A	ENST00000256646.2	-	34	7111	c.6892C>T	c.(6892-6894)Cgg>Tgg	p.R2298W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2298					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGGCTCCCGAGGGGTGGTT	0.612			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													59	63	62					1																	120458453		2203	4299	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6892C>T	1.37:g.120458453G>A	ENSP00000256646:p.Arg2298Trp		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R2298W	ENST00000256646.2	37	c.6892	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192482	0.58017	.	.	ENSG00000134250	ENST00000256646	D	0.83506	-1.73	5.5	5.5	0.81552	.	0.238762	0.21720	U	0.070137	T	0.76248	0.3961	L	0.36672	1.1	0.58432	D	0.999992	D	0.71674	0.998	P	0.49387	0.609	T	0.80339	-0.1424	10	0.72032	D	0.01	.	13.9444	0.64075	0.0:0.0:0.8384:0.1616	.	2298	Q04721	NOTC2_HUMAN	W	2298	ENSP00000256646:R2298W	ENSP00000256646:R2298W	R	-	1	2	NOTCH2	120259976	0.272000	0.24172	0.986000	0.45419	0.946000	0.59487	1.200000	0.32247	2.588000	0.87417	0.561000	0.74099	CGG	NOTCH2	-	pirsf_Notch,prints_Notch_2		0.612	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120458453	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.981	A	A	120458453	G	A	120458453	3	1	32	1	0	0	0	0	1	0	0	0	10572	1057	37	1	527	1	NOTCH2	1	120458453	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	16969910	120458453	128792168	8	4273										
HIST2H2BE	8349	genome.wustl.edu	37	chr1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gcctctcccgcgatgcgctcGaagatgtcgttgacgaagga	13	12	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622																																																	1	Substitution - Missense(1)	breast(1)											132	121	125					1																	149857978		2203	4297	6500	SO:0001583	missense	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.213C>G	1.37:g.149857978G>C	ENSP00000358151:p.Phe71Leu		A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.F71L	ENST00000369155.2	37	c.213	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452078	0.63290	.	.	ENSG00000184678	ENST00000369155	T	0.63744	-0.06	5.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.86268	2.805	0.30270	N	0.792314	P	0.44044	0.825	P	0.49752	0.621	T	0.59716	-0.7402	10	0.66056	D	0.02	.	8.9737	0.35921	0.2917:0.0:0.7083:0.0	.	71	Q16778	H2B2E_HUMAN	L	71	ENSP00000358151:F71L	ENSP00000358151:F71L	F	-	3	2	HIST2H2BE	148124602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.842000	0.48230	0.389000	0.25086	0.586000	0.80456	TTC	HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.622	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	G	NM_003528		149857978	-1	no_errors	ENST00000369155	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149857978	G	C	149857978	3	2	32	1	0	0	0	0	1	0	0	0	7199	1049	37	1	171	1	HIST2H2BE	1	149857978	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	29399525	149857978	99392643	9	4274										
SYT11	23208	genome.wustl.edu	37	chr1	155851228	155851228	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtgtcacagccagtggtgctGaacactggagagaggtctgc	15	9	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:155851228G>A	ENST00000368324.4	+	4	1478	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	SYT11_ENST00000539162.1_Missense_Mutation_p.E102K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	409					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAGTGGTGCTGAACACTGGAG	0.582																																																	0													84	91	89					1																	155851228		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1225G>A	1.37:g.155851228G>A	ENSP00000357307:p.Glu409Lys		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E409K	ENST00000368324.4	37	c.1225	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887489	0.33348	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.61392	0.94;0.11	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.127275	0.52532	D	0.000071	T	0.30634	0.0771	N	0.21282	0.65	0.39068	D	0.960662	B	0.30326	0.276	B	0.24541	0.054	T	0.11324	-1.0592	10	0.30854	T	0.27	.	18.6819	0.91549	0.0:0.0:1.0:0.0	.	409	Q9BT88	SYT11_HUMAN	K	409;102	ENSP00000357307:E409K;ENSP00000441657:E102K	ENSP00000357307:E409K	E	+	1	0	SYT11	154117852	1.000000	0.71417	0.523000	0.27875	0.631000	0.37964	4.133000	0.57983	2.748000	0.94277	0.655000	0.94253	GAA	SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.582	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155851228	1	no_errors	ENST00000368324	ensembl	human	known	70_37	missense	SNP	0.773	A	A	155851228	G	A	155851228	3	1	32	1	0	0	0	0	1	0	0	0	15497	1291	45	1	1239	1	SYT11	1	155851228	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	5993250	155851228	93399393	10	4275										
ARHGAP30	257106	genome.wustl.edu	37	chr1	161022560	161022560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgcccgggtccctggaagcGatcgccacccactctccacc	9	19	1	0	rs200926712		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:161022560G>A	ENST00000368013.3	-	7	1012	c.692C>T	c.(691-693)tCg>tTg	p.S231L	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S231L|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S54L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	231					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCTGGAAGCGATCGCCACCC	0.607																																																	0								G	LEU/SER,LEU/SER	0,4406		0,0,2203	49	52	51		692,692	2	0.5	1		51	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	231/1102,231/891	161022560	2,13004	2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.692C>T	1.37:g.161022560G>A	ENSP00000356992:p.Ser231Leu		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S231L	ENST00000368013.3	37	c.692	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434658	0.43224	0.0	2.33E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.34275	2.95;2.91;1.37	3.88	1.99	0.26369	.	0.687021	0.12423	N	0.470240	T	0.18002	0.0432	M	0.71036	2.16	0.34824	D	0.738941	P;D	0.52996	0.818;0.957	B;B	0.39503	0.097;0.301	T	0.07252	-1.0782	10	0.49607	T	0.09	.	6.1356	0.20230	0.2353:0.0:0.7647:0.0	.	231;231	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	231;231;83;54	ENSP00000356995:S231L;ENSP00000356992:S231L;ENSP00000356994:S54L	ENSP00000356992:S231L	S	-	2	0	ARHGAP30	159289184	0.000000	0.05858	0.457000	0.27056	0.934000	0.57294	-0.196000	0.09532	0.435000	0.26365	0.549000	0.68633	TCG	ARHGAP30	-	NULL		0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	G	NM_181720		161022560	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	missense	SNP	0.871	A	A	161022560	G	A	161022560	3	1	32	1	0	0	0	0	1	0	0	0	879	1059	37	1	2637	1	ARHGAP30	1	161022560	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	5171332	161022560	88228061	11	4276										
C1orf25	81627	genome.wustl.edu	37	chr1	185094133	185094133	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgactttgaggcgtacactCtgattcaaagattaatgtct	8	8	3	4			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:185094133C>G	ENST00000367506.5	-	12	1970	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	568	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCGTACACTCTGATTCAAAG	0.373																																																	0													145	136	139					1																	185094133		2203	4300	6503	SO:0001583	missense	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1702G>C	1.37:g.185094133C>G	ENSP00000356476:p.Glu568Gln		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E568Q	ENST00000367506.5	37	c.1702	CCDS1366.1	1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308944	0.60305	.	.	ENSG00000121486	ENST00000367506;ENST00000458395	.	.	.	4.91	4.91	0.64330	.	0.256457	0.43919	D	0.000512	T	0.53769	0.1817	L	0.42245	1.32	0.80722	D	1	P	0.40578	0.722	B	0.39876	0.312	T	0.56643	-0.7945	9	0.42905	T	0.14	-18.3453	18.464	0.90749	0.0:1.0:0.0:0.0	.	568	Q7Z2T5	TRM1L_HUMAN	Q	568;192	.	ENSP00000356476:E568Q	E	-	1	0	TRMT1L	183360756	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.634000	0.74290	2.452000	0.82932	0.585000	0.79938	GAG	TRMT1L	-	NULL		0.373	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1L	HGNC	protein_coding	OTTHUMT00000085787.1	C	NM_030934		185094133	-1	no_errors	ENST00000367506	ensembl	human	known	70_37	missense	SNP	1.000	G	G	185094133	C	G	185094133	3	3	32	1	0	0	0	0	1	0	0	0	2039	922	32	1	515	1	C1orf25	1	185094133	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	24071573	185094133	64156488	12	4277										
CHRM3	1131	genome.wustl.edu	37	chr1	240071327	240071327	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ggtgtgatgatcggtctggcTtgggtcatctcctttgtcct	13	9	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:240071327T>A	ENST00000255380.4	+	5	1355	c.576T>A	c.(574-576)gcT>gcA	p.A192A		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	192					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCGGTCTGGCTTGGGTCATCT	0.507																																																	0													194	201	199					1																	240071327		2203	4300	6503	SO:0001819	synonymous_variant	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.576T>A	1.37:g.240071327T>A			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.A192	ENST00000255380.4	37	c.576	CCDS1616.1	1																																																																																			CHRM3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	T	NM_000740		240071327	1	no_errors	ENST00000255380	ensembl	human	known	70_37	silent	SNP	0.779	A	A	240071327	T	A	240071327	2	1	32	1	0	0	0	0	0	0	0	1	3383	1596	56	5		5	CHRM3	1	240071327	Silent	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	54977194	240071327	9179294	13	4278										
OR2T27	403239	genome.wustl.edu	37	chr1	248813752	248813752	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctcccagccaggctgccgccAcaatcaaccagcagatcttg	8	17	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:248813752A>T	ENST00000344889.3	-	1	433	c.434T>A	c.(433-435)gTg>gAg	p.V145E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGCCGCCACAATCAACCA	0.552																																																	0													56	42	47					1																	248813752		2196	4246	6442	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.434T>A	1.37:g.248813752A>T	ENSP00000342008:p.Val145Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V145E	ENST00000344889.3	37	c.434	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	9.930	1.214590	0.22289	.	.	ENSG00000187701	ENST00000344889	T	0.41065	1.01	3.3	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35838	N	0.002957	T	0.65984	0.2744	H	0.96489	3.83	0.09310	N	1	D	0.52996	0.957	P	0.57468	0.821	T	0.59804	-0.7385	10	0.72032	D	0.01	.	7.8352	0.29365	0.8862:0.0:0.1138:0.0	.	145	Q8NH04	O2T27_HUMAN	E	145	ENSP00000342008:V145E	ENSP00000342008:V145E	V	-	2	0	OR2T27	246880375	0.000000	0.05858	0.089000	0.20774	0.057000	0.15508	0.541000	0.23207	1.511000	0.48818	0.163000	0.16589	GTG	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	A	NM_001001824		248813752	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.019	T	T	248813752	A	T	248813752	3	4	32	1	0	0	0	0	1	0	0	0	11045	159	6	5	522	5	OR2T27	1	248813752	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	8742425	248813752	436869	14	4279										
PGBD2	267002	genome.wustl.edu	37	chr1	249212358	249212358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tacattgcctgtgtgtatctGgagagcaatgctgacacaac	10	9	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:249212358G>A	ENST00000329291.5	+	3	1722	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	PGBD2_ENST00000355360.4_Silent_p.L274L|PGBD2_ENST00000539153.1_Silent_p.L522L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	525										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGTGTATCTGGAGAGCAATG	0.532																																																	0													104	93	97					1																	249212358		2203	4300	6503	SO:0001819	synonymous_variant	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1575G>A	1.37:g.249212358G>A			B3KVR8|Q6MZF8	Silent	SNP	NULL	p.L525	ENST00000329291.5	37	c.1575	CCDS31128.1	1																																																																																			PGBD2	-	NULL		0.532	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	G			249212358	1	no_errors	ENST00000329291	ensembl	human	known	70_37	silent	SNP	0.977	A	A	249212358	G	A	249212358	2	1	32	1	0	0	0	0	0	0	0	1	11805	1335	47	4		4	PGBD2	1	249212358	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	398606	249212358	38263	15	4280										
TPO	7173	genome.wustl.edu	37	chr2	1426846	1426846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aggagtctcgtgtctctagcGtcttggaggaaagcaagcgc	14	9	3	0	rs147325430		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:1426846G>A	ENST00000345913.4	+	3	215	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	42					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTCTCTAGCGTCTTGGAGGA	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		18877	0		0	False		,,,				2504	0																0								G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4401	8.1+/-20.4	0,5,2198	122	98	106		124,124,124,124,124,124	-6	0	2	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign,benign,benign,benign	42/934,42/934,42/877,42/877,42/890,42/761	1426846	5,13001	2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.124G>A	2.37:g.1426846G>A	ENSP00000318820:p.Val42Ile		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.V42I	ENST00000345913.4	37	c.124	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207709	0.06180	0.001135	0.0	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	3.72	-6.03	0.02185	.	1.395640	0.05248	N	0.513418	T	0.28333	0.0700	N	0.02736	-0.51	0.09310	N	1	B;B;B;B;B	0.15473	0.003;0.0;0.013;0.007;0.004	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.29397	-1.0013	10	0.14656	T	0.56	-2.3701	11.1947	0.48707	0.4161:0.0:0.5839:0.0	.	42;42;42;42;42	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	42	ENSP00000371704:V42I;ENSP00000337263:V42I;ENSP00000318820:V42I;ENSP00000263886:V42I;ENSP00000332044:V42I;ENSP00000444840:V42I;ENSP00000329869:V42I;ENSP00000371636:V42I;ENSP00000390994:V42I;ENSP00000371633:V42I	ENSP00000329869:V42I	V	+	1	0	TPO	1405853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.000000	0.03693	-1.256000	0.02478	-1.740000	0.00687	GTC	TPO	-	NULL		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1426846	1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1426846	G	A	1426846	3	1	32	1	0	0	0	0	1	0	0	0	16441	1145	40	2	130	2	TPO	2	1426846	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		1426846	241772527	16	4281										
NLRC4	58484	genome.wustl.edu	37	chr2	32475118	32475118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgaagtccagggcacttgcAcaattgggcaaatgttcaaa	10	8	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:32475118A>G	ENST00000404025.2	-	5	2303	c.1815T>C	c.(1813-1815)tgT>tgC	p.C605C	NLRC4_ENST00000360906.5_Silent_p.C605C|NLRC4_ENST00000402280.1_Silent_p.C605C|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	605					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGCACTTGCACAATTGGGCA	0.428																																																	0													119	127	124					2																	32475118		2203	4300	6503	SO:0001819	synonymous_variant	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1815T>C	2.37:g.32475118A>G			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.C605	ENST00000404025.2	37	c.1815	CCDS33174.1	2																																																																																			NLRC4	-	NULL		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	A	NM_021209		32475118	-1	no_errors	ENST00000360906	ensembl	human	known	70_37	silent	SNP	0.990	G	G	32475118	A	G	32475118	2	3	32	1	0	0	0	0	0	0	0	1	10493	157	6	5		5	NLRC4	2	32475118	Silent	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	31048272	32475118	210724255	17	4282										
ZNF638	27332	genome.wustl.edu	37	chr2	71650144	71650144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgctgttgaaactttggagcTtgaaactcaaggagaggagg	14	5	1	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:71650144T>C	ENST00000409544.1	+	22	4130	c.3500T>C	c.(3499-3501)cTt>cCt	p.L1167P	ZNF638_ENST00000409407.1_Missense_Mutation_p.L107P|ZNF638_ENST00000264447.4_Missense_Mutation_p.L1167P|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1167	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACTTTGGAGCTTGAAACTCAA	0.418																																																	0													95	94	94					2																	71650144		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3500T>C	2.37:g.71650144T>C	ENSP00000386433:p.Leu1167Pro		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L1167P	ENST00000409544.1	37	c.3500	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750783	0.31046	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.34275	1.37;1.37;1.63	5.69	4.51	0.55191	.	0.922495	0.09082	N	0.851236	T	0.22898	0.0553	N	0.14661	0.345	0.80722	D	1	P;P;B	0.39624	0.681;0.504;0.371	B;B;B	0.37650	0.255;0.241;0.121	T	0.01232	-1.1411	10	0.22706	T	0.39	-0.0627	9.1857	0.37170	0.1617:0.0:0.0:0.8383	.	1167;1167;1167	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	P	746;1167;1167;107;107	ENSP00000264447:L1167P;ENSP00000386433:L1167P;ENSP00000386813:L107P	ENSP00000264447:L1167P	L	+	2	0	ZNF638	71503652	0.973000	0.33851	0.985000	0.45067	0.145000	0.21501	1.999000	0.40806	1.045000	0.40225	0.533000	0.62120	CTT	ZNF638	-	NULL		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	T	NM_014497		71650144	1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	0.991	C	C	71650144	T	C	71650144	3	2	32	1	0	0	0	0	1	0	0	0	18085	1609	56	5	3582	5	ZNF638	2	71650144	Missense_Mutation	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	39175026	71650144	171549229	18	4283										
DCTN1	1639	genome.wustl.edu	37	chr2	74590169	74590169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtgcgtgtgtgtgctcaattGattcaatgtctccagcagct	11	9	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:74590169G>C	ENST00000361874.3	-	29	3798	c.3481C>G	c.(3481-3483)Caa>Gaa	p.Q1161E	DCTN1_ENST00000409567.3_Missense_Mutation_p.Q1136E|DCTN1_ENST00000407639.2_Missense_Mutation_p.Q1027E|DCTN1_ENST00000409438.1_Missense_Mutation_p.Q1022E|DCTN1_ENST00000409240.1_Missense_Mutation_p.Q1119E|DCTN1_ENST00000409868.1_Missense_Mutation_p.Q1139E|DCTN1_ENST00000495643.1_5'Flank|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.Q74E|DCTN1_ENST00000394003.3_Missense_Mutation_p.Q1154E	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCTCAATTGATTCAATGTC	0.547																																																	0													130	110	117					2																	74590169		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3481C>G	2.37:g.74590169G>C	ENSP00000354791:p.Gln1161Glu		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.Q1161E	ENST00000361874.3	37	c.3481	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085346	0.36758	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77229	-0.65;-0.84;-0.65;-0.66;-1.08;-0.85;-0.86	5.09	5.09	0.68999	.	0.000000	0.41001	D	0.000969	T	0.71953	0.3401	L	0.48642	1.525	0.54753	D	0.999989	B;B;B;B;B;B;B	0.31435	0.087;0.323;0.131;0.064;0.141;0.206;0.323	B;B;B;B;B;B;B	0.27380	0.033;0.079;0.026;0.031;0.072;0.058;0.079	T	0.70219	-0.4932	10	0.35671	T	0.21	-8.3827	17.4365	0.87554	0.0:0.0:1.0:0.0	.	1136;1119;1161;1154;1027;1022;1144	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	E	1161;1154;1144;1027;1022;1119;1139;1136	ENSP00000354791:Q1161E;ENSP00000377571:Q1154E;ENSP00000384844:Q1027E;ENSP00000387270:Q1022E;ENSP00000386406:Q1119E;ENSP00000387327:Q1139E;ENSP00000386843:Q1136E	ENSP00000354791:Q1161E	Q	-	1	0	DCTN1	74443677	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	7.138000	0.77305	2.633000	0.89246	0.655000	0.94253	CAA	DCTN1	-	NULL		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	G	NM_004082		74590169	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74590169	G	C	74590169	3	2	32	1	0	0	0	0	1	0	0	0	4311	1299	45	1	371	1	DCTN1	2	74590169	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	2940025	74590169	168609204	19	4284										
THSD7B	80731	genome.wustl.edu	37	chr2	138413202	138413202	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccctttcaggacagcatcctGaagcagctgtgttctgtgcc	10	13	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:138413202G>A	ENST00000409968.1	+	22	4255	c.4077G>A	c.(4075-4077)ctG>ctA	p.L1359L	THSD7B_ENST00000272643.3_Silent_p.L1362L|THSD7B_ENST00000413152.2_Silent_p.L1331L|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1361	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAGCATCCTGAAGCAGCTGT	0.493																																																	0													65	66	66					2																	138413202		2077	4214	6291	SO:0001819	synonymous_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4077G>A	2.37:g.138413202G>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L1362	ENST00000409968.1	37	c.4086		2																																																																																			THSD7B	-	smart_Thrombospondin_1_rpt		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138413202	1	no_errors	ENST00000272643	ensembl	human	known	70_37	silent	SNP	1.000	A	A	138413202	G	A	138413202	2	1	32	1	0	0	0	0	0	0	0	1	15910	1277	45	1		1	THSD7B	2	138413202	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	63823033	138413202	104786171	20	4285										
LRP1B	53353	genome.wustl.edu	37	chr2	141298620	141298620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cccattgggagttaaaaggcAcaagtcatggcagcctccat	10	11	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:141298620A>G	ENST00000389484.3	-	45	8406	c.7435T>C	c.(7435-7437)Tgc>Cgc	p.C2479R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2479	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTAAAAGGCACAAGTCATGG	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130	120	124					2																	141298620		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7435T>C	2.37:g.141298620A>G	ENSP00000374135:p.Cys2479Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C2479R	ENST00000389484.3	37	c.7435	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468981	0.84533	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94457	-3.43	6.03	6.03	0.97812	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98093	0.9371	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99208	1.0875	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	2479	Q9NZR2	LRP1B_HUMAN	R	2479;2417	ENSP00000374135:C2479R	ENSP00000374135:C2479R	C	-	1	0	LRP1B	141015090	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.191000	0.94940	2.308000	0.77769	0.533000	0.62120	TGC	LRP1B	-	smart_EG-like_dom		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	A	NM_018557		141298620	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	G	G	141298620	A	G	141298620	3	3	32	1	0	0	0	0	1	0	0	0	8978	159	6	5	6552	5	LRP1B	2	141298620	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	2885418	141298620	101900753	21	4286										
CACNB4	785	genome.wustl.edu	37	chr2	152727085	152727085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gccccactaacaccaccggaCgcattgacggtacaacatcg	8	16	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:152727085C>T	ENST00000539935.1	-	8	726	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CACNB4_ENST00000534999.1_Missense_Mutation_p.R186H|CACNB4_ENST00000360283.6_Missense_Mutation_p.R187H|CACNB4_ENST00000201943.5_Missense_Mutation_p.R220H|CACNB4_ENST00000397327.2_Missense_Mutation_p.R173H|CACNB4_ENST00000427385.1_Missense_Mutation_p.R202H	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	220					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R220H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCACCGGACGCATTGACGG	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											85	86	86					2																	152727085		2101	4215	6316	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.659G>A	2.37:g.152727085C>T	ENSP00000438949:p.Arg220His		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.R221H	ENST00000539935.1	37	c.662	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.720892	0.96839	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.91	5.91	0.95273	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.999;0.995	D	0.83531	0.0091	10	0.87932	D	0	-11.1915	20.2983	0.98569	0.0:1.0:0.0:0.0	.	220;186;220;202;186	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	H	220;187;177;215;186;173;202;220;221	ENSP00000438949:R220H;ENSP00000353425:R187H;ENSP00000390161:R215H;ENSP00000443893:R186H;ENSP00000380490:R173H;ENSP00000410978:R202H;ENSP00000201943:R220H	ENSP00000201943:R220H	R	-	2	0	CACNB4	152435331	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.746000	0.85057	2.802000	0.96397	0.655000	0.94253	CGT	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3		152727085	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152727085	C	T	152727085	3	4	32	1	0	0	0	0	1	0	0	0	2560	536	19	2	931	2	CACNB4	2	152727085	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	11428465	152727085	90472288	22	4287										
ITGB6	3694	genome.wustl.edu	37	chr2	160980321	160980321	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccttcttcttcactgatggtCgcaccagctagtttgcactt	7	13	3	1	rs201818641		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:160980321C>T	ENST00000283249.2	-	12	2199	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	ITGB6_ENST00000409872.1_Silent_p.A654A|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Silent_p.A612A	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	654					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACTGATGGTCGCACCAGCTA	0.483																																																	0													201	175	184					2																	160980321		2203	4300	6503	SO:0001819	synonymous_variant	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1962G>A	2.37:g.160980321C>T			B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.A654	ENST00000283249.2	37	c.1962	CCDS2212.1	2																																																																																			ITGB6	-	pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu		0.483	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	C	NM_000888		160980321	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	silent	SNP	0.003	T	T	160980321	C	T	160980321	2	4	32	1	0	0	0	0	0	0	0	1	7919	871	31	1		1	ITGB6	2	160980321	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	8253236	160980321	82219052	23	4288										
GCG	2641	genome.wustl.edu	37	chr2	163003930	163003930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cctggagtccagatacttgcTgtagtcactggtgaatgtgc	12	9	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:163003930T>G	ENST00000418842.2	-	3	441	c.187A>C	c.(187-189)Agc>Cgc	p.S63R	GCG_ENST00000375497.3_Missense_Mutation_p.S63R	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	63					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AGATACTTGCTGTAGTCACTG	0.493																																																	0													246	243	244					2																	163003930		2026	4194	6220	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.187A>C	2.37:g.163003930T>G	ENSP00000387662:p.Ser63Arg		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.S63R	ENST00000418842.2	37	c.187	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755213	0.89843	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.41065	1.01;1.01	5.64	4.49	0.54785	Glucagon/GIP/secretin/VIP (4);	0.112902	0.85682	D	0.000000	T	0.64327	0.2588	M	0.91249	3.19	0.58432	D	0.999999	D	0.56287	0.975	P	0.55455	0.776	T	0.72308	-0.4332	10	0.87932	D	0	8.9159	11.6175	0.51098	0.0:0.0688:0.0:0.9312	.	63	P01275	GLUC_HUMAN	R	63	ENSP00000387662:S63R;ENSP00000364647:S63R	ENSP00000364647:S63R	S	-	1	0	GCG	162712176	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.714000	0.84703	1.152000	0.42452	0.528000	0.53228	AGC	GCG	-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP		0.493	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	T	NM_002054		163003930	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	G	G	163003930	T	G	163003930	3	3	32	1	0	0	0	0	1	0	0	0	6309	1580	55	5	371	5	GCG	2	163003930	Missense_Mutation	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	2023609	163003930	80195443	24	4289										
ATF2	1386	genome.wustl.edu	37	chr2	175957797	175957797	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tatgcaccatacctgcagctGaccatttaatgaactcaagt	6	11	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:175957797G>A	ENST00000264110.2	-	12	1475	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	ATF2_ENST00000345739.5_Nonsense_Mutation_p.Q335*|ATF2_ENST00000409437.1_Nonsense_Mutation_p.Q277*|ATF2_ENST00000538946.1_Nonsense_Mutation_p.Q375*|ATF2_ENST00000426833.3_Nonsense_Mutation_p.Q375*|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Nonsense_Mutation_p.Q335*|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Nonsense_Mutation_p.Q393*	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	393	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	ACCTGCAGCTGACCATTTAAT	0.353																																					Pancreas(17;87 705 4534 15538 30988)												0													121	116	118					2																	175957797		2203	4300	6503	SO:0001587	stop_gained	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1177C>T	2.37:g.175957797G>A	ENSP00000264110:p.Gln393*		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Nonsense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.Q393*	ENST00000264110.2	37	c.1177	CCDS2262.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.918629	0.99002	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-46.5959	19.2801	0.94050	0.0:0.0:1.0:0.0	.	.	.	.	X	393;335;370;277;335;393;375;375	.	ENSP00000264110:Q393X	Q	-	1	0	ATF2	175666043	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.573000	0.82421	2.553000	0.86117	0.557000	0.71058	CAG	ATF2	-	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP		0.353	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	G	NM_001880		175957797	-1	no_errors	ENST00000264110	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	175957797	G	A	175957797	4	1	32	1	0	0	0	0	0	1	0	0	1081	1299	45	1	352	1	ATF2	2	175957797	Nonsense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	12953867	175957797	67241576	25	4290										
TTN	7273	genome.wustl.edu	37	chr2	179456845	179456845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gactctttttctttgatgtaGctgagagaggtgaccactgg	12	7	2	4			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:179456845G>T	ENST00000591111.1	-	252	55087	c.54863C>A	c.(54862-54864)gCt>gAt	p.A18288D	TTN_ENST00000359218.5_Missense_Mutation_p.A10989D|TTN_ENST00000460472.2_Missense_Mutation_p.A10864D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11056D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19929D|TTN_ENST00000342992.6_Missense_Mutation_p.A17361D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18288	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGATGTAGCTGAGAGAGG	0.473																																																	0													76	74	75					2																	179456845		1939	4140	6079	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54863C>A	2.37:g.179456845G>T	ENSP00000465570:p.Ala18288Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A17361D	ENST00000591111.1	37	c.52082		2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534171	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45538	0.1347	N	0.20357	0.565	0.45567	D	0.998518	B;B;B;B	0.17852	0.024;0.024;0.024;0.024	B;B;B;B	0.24269	0.02;0.02;0.037;0.052	T	0.35276	-0.9795	9	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	10864;10989;11056;18288	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	17361;10864;11056;10989;10862	ENSP00000343764:A17361D;ENSP00000434586:A10864D;ENSP00000340554:A11056D;ENSP00000352154:A10989D	ENSP00000340554:A11056D	A	-	2	0	TTN	179165091	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.844000	0.86867	2.868000	0.98415	0.557000	0.71058	GCT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179456845	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179456845	G	T	179456845	3	4	32	1	0	0	0	0	1	0	0	0	16766	971	34	4	48437	4	TTN	2	179456845	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	3499048	179456845	63742528	26	4291										
TTN	7273	genome.wustl.edu	37	chr2	179590695	179590695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cctcaaacggtggtgttcccGaaagttcacattcaagactg	9	11	3	1	rs201586695	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:179590695G>A	ENST00000591111.1	-	68	19627	c.19403C>T	c.(19402-19404)tCg>tTg	p.S6468L	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6785L|TTN_ENST00000342992.6_Missense_Mutation_p.S5541L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12070	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTTCCCGAAAGTTCACA	0.413													G|||	2	0.000399361	0	0.0014	5008	,	,		19999	0		0.001	False		,,,				2504	0																0													87	82	84					2																	179590695		1884	4116	6000	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19403C>T	2.37:g.179590695G>A	ENSP00000465570:p.Ser6468Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S5541L	ENST00000591111.1	37	c.16622		2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715869	0.30413	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.87	1.73	0.24493	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56863	0.2014	L	0.49126	1.545	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.52019	-0.8631	9	0.87932	D	0	.	5.8443	0.18657	0.2733:0.0:0.605:0.1217	.	6468	Q8WZ42	TITIN_HUMAN	L	5541	ENSP00000343764:S5541L	ENSP00000343764:S5541L	S	-	2	0	TTN	179298940	0.638000	0.27225	0.337000	0.25536	0.998000	0.95712	1.671000	0.37513	0.101000	0.17610	0.655000	0.94253	TCG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179590695	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.009	A	A	179590695	G	A	179590695	3	1	32	1	0	0	0	0	1	0	0	0	16766	1059	37	1	84347	1	TTN	2	179590695	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	133850	179590695	63608678	27	4292										
ITGA4	3676	genome.wustl.edu	37	chr2	182360128	182360128	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tggtgcttttcggtctgattCtgctgtcttgctaaggtaag	12	7	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:182360128C>T	ENST00000397033.2	+	13	1800	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	457					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CGGTCTGATTCTGCTGTCTTG	0.343																																																	0													276	242	253					2																	182360128		1876	4122	5998	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1370C>T	2.37:g.182360128C>T	ENSP00000380227:p.Ser457Phe		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S457F	ENST00000397033.2	37	c.1370	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200799	0.58234	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.62232	0.04;0.04	5.93	5.06	0.68205	.	0.053530	0.85682	D	0.000000	T	0.79381	0.4436	M	0.78344	2.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82337	-0.0507	10	0.72032	D	0.01	.	15.0942	0.72220	0.0:0.9323:0.0:0.0677	.	457	P13612	ITA4_HUMAN	F	457	ENSP00000380227:S457F;ENSP00000233573:S457F	ENSP00000233573:S457F	S	+	2	0	ITGA4	182068373	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.793000	0.62474	1.527000	0.49086	-0.136000	0.14681	TCT	ITGA4	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	C			182360128	1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	182360128	C	T	182360128	3	4	32	1	0	0	0	0	1	0	0	0	7898	913	32	1	1420	1	ITGA4	2	182360128	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2769433	182360128	60839245	28	4293										
ALS2CR11	151254	genome.wustl.edu	37	chr2	202358491	202358491	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	taatgtagtcatgtacagtgCcacttgaacctgatttggag	10	7	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:202358491C>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Missense_Mutation_p.G858D|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATGTACAGTGCCACTTGAACC	0.353																																																	0													144	110	120					2																	202358491		692	1591	2283	SO:0001627	intron_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+2126G>A	2.37:g.202358491C>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.G858D	ENST00000286195.3	37	c.2573	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925320	0.52759	.	.	ENSG00000155754	ENST00000439140	T	0.54479	0.57	5.4	-1.11	0.09840	.	.	.	.	.	T	0.30070	0.0753	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.19391	0.025	T	0.25745	-1.0123	9	0.10636	T	0.68	.	4.9885	0.14202	0.0:0.4208:0.2651:0.3141	.	858	E9PGG4	.	D	858	ENSP00000409937:G858D	ENSP00000409937:G858D	G	-	2	0	ALS2CR11	202066736	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.110000	0.10824	-0.124000	0.11724	0.655000	0.94253	GGC	ALS2CR11	-	NULL		0.353	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202358491	-1	no_errors	ENST00000439140	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	202358491	C	T	202358491	1	4	32	0	1	0	0	0	0	0	0	0	552	739	26	4		4	ALS2CR11	2	202358491	Intron	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	19998363	202358491	40840882	29	4294										
ABCA12	26154	genome.wustl.edu	37	chr2	215812147	215812147	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	taaataatgattctcttaccAgcagtagaatggaaggtttc	8	6	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:215812147A>T	ENST00000272895.7	-	48	7457	c.7238T>A	c.(7237-7239)cTg>cAg	p.L2413Q	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.L2095Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2413	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCTTACCAGCAGTAGAAT	0.388																																					Ovarian(66;664 1488 5121 34295)												0													168	164	165					2																	215812147		2203	4300	6503	SO:0001630	splice_region_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7239+1T>A	2.37:g.215812147A>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2413Q	ENST00000272895.7	37	c.7238	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326890	0.81690	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89196	-2.48;-2.48	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.52532	D	0.000076	D	0.96917	0.8993	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98523	1.0624	10	0.87932	D	0	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	2413;2095	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	2413;2095	ENSP00000272895:L2413Q;ENSP00000374312:L2095Q	ENSP00000272895:L2413Q	L	-	2	0	ABCA12	215520392	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.450000	0.90340	2.237000	0.73441	0.460000	0.39030	CTG	ABCA12	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	A	NM_173076	Missense_Mutation	215812147	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215812147	A	T	215812147	5	4	32	1	0	0	0	0	0	0	1	0	30	202	7	5	573	5	ABCA12	2	215812147	Splice_Site	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	13453656	215812147	27387226	30	4295										
SLC4A3	6508	genome.wustl.edu	37	chr2	220506409	220506409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgaaccaaacttcgatgagGatggccaggatgagtacaat	11	8	0	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:220506409G>A	ENST00000358055.3	+	23	4170	c.3658G>A	c.(3658-3660)Gat>Aat	p.D1220N	SLC4A3_ENST00000317151.3_Missense_Mutation_p.D1220N|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D1220N|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D1247N|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D1247N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1220	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCGATGAGGATGGCCAGGA	0.567																																																	0													198	145	163					2																	220506409		2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3658G>A	2.37:g.220506409G>A	ENSP00000350756:p.Asp1220Asn		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.D1247N	ENST00000358055.3	37	c.3739	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646407	0.87958	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.35	5.35	0.76521	.	0.511408	0.21152	N	0.079308	T	0.77239	0.4101	L	0.56199	1.76	0.58432	D	0.999999	B;B;B	0.28026	0.071;0.125;0.198	B;B;B	0.29862	0.071;0.05;0.108	T	0.75733	-0.3214	10	0.62326	D	0.03	.	19.4227	0.94727	0.0:0.0:1.0:0.0	.	924;1220;1247	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	N	1220;1220;1247;1247;1220	ENSP00000350756:D1220N;ENSP00000362865:D1220N;ENSP00000273063:D1247N;ENSP00000362867:D1247N;ENSP00000314006:D1220N	ENSP00000273063:D1247N	D	+	1	0	SLC4A3	220214653	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	9.544000	0.98092	2.657000	0.90304	0.655000	0.94253	GAT	SLC4A3	-	tigrfam_HCO3_transpt_euk		0.567	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220506409	1	no_errors	ENST00000273063	ensembl	human	known	70_37	missense	SNP	1.000	A	A	220506409	G	A	220506409	3	1	32	1	0	0	0	0	1	0	0	0	14685	1174	41	1	3825	1	SLC4A3	2	220506409	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	4694262	220506409	22692964	31	4296										
TRIP12	9320	genome.wustl.edu	37	chr2	230678652	230678652	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aaatgaaattcatctggcgtGatactctggcagcaattagc	9	8	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:230678652G>T	ENST00000283943.5	-	12	1954	c.1776C>A	c.(1774-1776)atC>atA	p.I592I	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Silent_p.I640I|TRIP12_ENST00000389045.3_Silent_p.I295I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	592					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATCTGGCGTGATACTCTGGC	0.403																																																	0													73	67	69					2																	230678652		2203	4300	6503	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1776C>A	2.37:g.230678652G>T			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.I592	ENST00000283943.5	37	c.1776	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	G	NM_004238		230678652	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	silent	SNP	1.000	T	T	230678652	G	T	230678652	2	4	32	1	0	0	0	0	0	0	0	1	16587	1280	45	3		3	TRIP12	2	230678652	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	10172243	230678652	12520721	32	4297										
ITIH3	3699	genome.wustl.edu	37	chr3	52830650	52830650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgcccaagacggccttcatcAccaacttcaccttgtgggta	8	14	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:52830650A>G	ENST00000449956.2	+	3	274	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	ITIH3_ENST00000416872.2_Missense_Mutation_p.T90A	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	90	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGCCTTCATCACCAACTTCAC	0.577																																																	0													62	68	66					3																	52830650		2142	4277	6419	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.268A>G	3.37:g.52830650A>G	ENSP00000415769:p.Thr90Ala		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T90A	ENST00000449956.2	37	c.268	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056731	0.76074	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23348	1.91;1.91	4.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.228496	0.44483	D	0.000444	T	0.48021	0.1477	M	0.87180	2.865	0.32521	N	0.536288	P;P	0.47106	0.835;0.89	P;P	0.54664	0.468;0.758	T	0.64685	-0.6349	10	0.48119	T	0.1	-26.0369	11.9441	0.52918	1.0:0.0:0.0:0.0	.	90;90	E7ET33;Q06033	.;ITIH3_HUMAN	A	90;90;85;90;90	ENSP00000413922:T90A;ENSP00000415769:T90A	ENSP00000273291:T85A	T	+	1	0	ITIH3	52805690	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.399000	0.59703	2.004000	0.58718	0.459000	0.35465	ACC	ITIH3	-	pfam_VIT,smart_VIT		0.577	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	A	NM_002217		52830650	1	no_errors	ENST00000449956	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52830650	A	G	52830650	3	3	32	1	0	0	0	0	1	0	0	0	7925	159	6	5	278	5	ITIH3	3	52830650	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09		52830650	145191780	33	4298										
OR5AC2	81050	genome.wustl.edu	37	chr3	97806600	97806600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aatttcatgcaatggtccatCtattaacgcactaatgatat	5	8	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:97806600C>G	ENST00000358642.2	+	1	584	c.584C>G	c.(583-585)tCt>tGt	p.S195C		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AATGGTCCATCTATTAACGCA	0.303																																																	0													52	54	53					3																	97806600		2203	4299	6502	SO:0001583	missense	81050			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.584C>G	3.37:g.97806600C>G	ENSP00000351466:p.Ser195Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S195C	ENST00000358642.2	37	c.584	CCDS33796.1	3	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191430	0.38707	.	.	ENSG00000196578	ENST00000358642	T	0.00179	8.61	4.94	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	1.486640	0.05173	U	0.499924	T	0.00608	0.0020	M	0.88570	2.965	0.09310	N	1	D	0.67145	0.996	D	0.67231	0.95	T	0.49698	-0.8912	10	0.56958	D	0.05	-19.2358	3.7822	0.08684	0.1614:0.5228:0.2276:0.0883	.	195	Q9NZP5	O5AC2_HUMAN	C	195	ENSP00000351466:S195C	ENSP00000351466:S195C	S	+	2	0	OR5AC2	99289290	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-2.944000	0.00681	0.355000	0.24131	0.590000	0.80494	TCT	OR5AC2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.303	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AC2	HGNC	protein_coding	OTTHUMT00000359116.1	C			97806600	1	no_errors	ENST00000358642	ensembl	human	known	70_37	missense	SNP	0.001	G	G	97806600	C	G	97806600	3	3	32	1	0	0	0	0	1	0	0	0	11165	913	32	1	586	1	OR5AC2	3	97806600	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	44975950	97806600	100215830	34	4299										
TMEM45A	55076	genome.wustl.edu	37	chr3	100277259	100277259	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tccccatcagcctttatcttCtacaaccacactcatggccg	4	17	4	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:100277259C>G	ENST00000323523.4	+	4	727	c.414C>G	c.(412-414)ttC>ttG	p.F138L	TMEM45A_ENST00000403410.1_Missense_Mutation_p.F154L	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	138						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CCTTTATCTTCTACAACCACA	0.483																																																	0													131	117	122					3																	100277259		2203	4300	6503	SO:0001583	missense	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.414C>G	3.37:g.100277259C>G	ENSP00000319009:p.Phe138Leu		Q53YW5	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.F138L	ENST00000323523.4	37	c.414	CCDS2937.1	3	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550320	0.65311	.	.	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.54479	0.57;0.57;0.57	6.07	1.73	0.24493	.	0.131841	0.64402	N	0.000001	T	0.51126	0.1656	L	0.60845	1.875	0.49915	D	0.999838	B;P	0.42620	0.117;0.785	B;P	0.49637	0.064;0.617	T	0.39482	-0.9612	10	0.27082	T	0.32	-8.8845	5.556	0.17117	0.0:0.451:0.3285:0.2205	.	154;138	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	L	138;154;154	ENSP00000319009:F138L;ENSP00000385089:F154L;ENSP00000405597:F154L	ENSP00000319009:F138L	F	+	3	2	TMEM45A	101759949	0.997000	0.39634	1.000000	0.80357	0.935000	0.57460	0.430000	0.21428	0.434000	0.26340	0.650000	0.86243	TTC	TMEM45A	-	pfam_DUF716_TMEM45		0.483	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	HGNC	protein_coding	OTTHUMT00000317571.1	C	NM_018004		100277259	1	no_errors	ENST00000323523	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100277259	C	G	100277259	3	3	32	1	0	0	0	0	1	0	0	0	16199	912	32	1	424	1	TMEM45A	3	100277259	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2470659	100277259	97745171	35	4300										
SLC9A10	285335	genome.wustl.edu	37	chr3	111923076	111923076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gttctttaccttgaaaatgcGtagtatacgaaaaaattgaa	7	5	1	2	rs201512353		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:111923076G>A	ENST00000305815.5	-	17	2413	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R673C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	721					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTGAAAATGCGTAGTATACGA	0.259																																																	0													30	31	31					3																	111923076		2193	4278	6471	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2161C>T	3.37:g.111923076G>A	ENSP00000306627:p.Arg721Cys		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R721C	ENST00000305815.5	37	c.2161	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769875	0.49680	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.98849	-5.18;-5.18	5.72	4.86	0.63082	.	0.114109	0.38720	N	0.001585	D	0.99239	0.9735	M	0.93462	3.42	0.38631	D	0.951378	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.959	D	0.99903	1.1169	10	0.87932	D	0	.	10.9289	0.47207	0.0863:0.0:0.9137:0.0	.	673;721	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	721;673	ENSP00000306627:R721C;ENSP00000420688:R673C	ENSP00000306627:R721C	R	-	1	0	SLC9A10	113405766	0.995000	0.38212	0.994000	0.49952	0.497000	0.33675	3.430000	0.52807	1.427000	0.47276	-0.448000	0.05591	CGC	SLC9C1	-	NULL		0.259	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	G	NM_183061		111923076	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.997	A	A	111923076	G	A	111923076	3	1	32	1	0	0	0	0	1	0	0	0	14740	1145	40	2	1424	2	SLC9A10	3	111923076	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	11645817	111923076	86099354	36	4301										
STXBP5L	9515	genome.wustl.edu	37	chr3	120998662	120998662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tctctcttagagttgcatttGggaactgcaatgggttggct	12	7	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:120998662G>C	ENST00000273666.6	+	19	2240	c.1969G>C	c.(1969-1971)Ggg>Cgg	p.G657R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G657R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G657R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G657R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G657R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	657					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTTGCATTTGGGAACTGCAA	0.348																																																	0													164	153	156					3																	120998662		1866	4097	5963	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1969G>C	3.37:g.120998662G>C	ENSP00000273666:p.Gly657Arg		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.G657R	ENST00000273666.6	37	c.1969	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806907	0.90623	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.72167	0.68;-0.63;-0.63;-0.05;-0.63;-0.63	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87487	0.2424	10	0.87932	D	0	-7.1723	19.786	0.96437	0.0:0.0:1.0:0.0	.	657;657	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	657	ENSP00000273666:G657R;ENSP00000420019:G657R;ENSP00000419627:G657R;ENSP00000420287:G657R;ENSP00000420666:G657R;ENSP00000420167:G657R	ENSP00000273666:G657R	G	+	1	0	STXBP5L	122481352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.676000	0.91093	0.563000	0.77884	GGG	STXBP5L	-	superfamily_WD40_repeat_dom,prints_Lethal2_giant		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	G			120998662	1	no_errors	ENST00000273666	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120998662	G	C	120998662	3	2	32	1	0	0	0	0	1	0	0	0	15387	1348	47	4	2039	4	STXBP5L	3	120998662	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	9075586	120998662	77023768	37	4302										
STXBP5L	9515	genome.wustl.edu	37	chr3	121132054	121132054	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttaattatttgccactgacaGacatgaggatagcacgaaca	8	8	0	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:121132054G>A	ENST00000273666.6	+	25	3341	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D1000N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1024					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCCACTGACAGACATGAGGAT	0.393																																																	0													162	146	151					3																	121132054		1931	4134	6065	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3070G>A	3.37:g.121132054G>A	ENSP00000273666:p.Asp1024Asn		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.D1024N	ENST00000273666.6	37	c.3070	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743915	0.69418	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.48522	0.81;0.81;0.81	6.08	6.08	0.98989	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.53878	-0.8376	10	0.23891	T	0.37	-14.554	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1000;1024	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	1024;1000;967	ENSP00000273666:D1024N;ENSP00000420019:D1000N;ENSP00000420167:D967N	ENSP00000273666:D1024N	D	+	1	0	STXBP5L	122614744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GAC	STXBP5L	-	pfam_Lgl_C		0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	G			121132054	1	no_errors	ENST00000273666	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121132054	G	A	121132054	3	1	32	1	0	0	0	0	1	0	0	0	15387	942	33	1	3164	1	STXBP5L	3	121132054	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	133392	121132054	76890376	38	4303										
FBXO40	51725	genome.wustl.edu	37	chr3	121340784	121340784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aaaccagtgtggaggaaatgGgaggagcagtgggtggagtg	20	3	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:121340784G>A	ENST00000338040.4	+	3	922	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	170					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGAGGAAATGGGAGGAGCAGT	0.493																																																	0													120	129	126					3																	121340784		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.508G>A	3.37:g.121340784G>A	ENSP00000337510:p.Gly170Arg		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.G170R	ENST00000338040.4	37	c.508	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	4.299	0.054734	0.08291	.	.	ENSG00000163833	ENST00000338040	T	0.41065	1.01	4.88	4.01	0.46588	.	0.907004	0.09804	N	0.753648	T	0.37517	0.1006	L	0.44542	1.39	0.29491	N	0.855615	B	0.22983	0.078	B	0.26864	0.074	T	0.30297	-0.9983	10	0.24483	T	0.36	0.0253	11.6588	0.51334	0.089:0.0:0.911:0.0	.	170	Q9UH90	FBX40_HUMAN	R	170	ENSP00000337510:G170R	ENSP00000337510:G170R	G	+	1	0	FBXO40	122823474	0.990000	0.36364	0.705000	0.30386	0.142000	0.21351	4.541000	0.60670	1.392000	0.46585	-0.142000	0.14014	GGA	FBXO40	-	NULL		0.493	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	G	NM_016298		121340784	1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	0.710	A	A	121340784	G	A	121340784	3	1	32	1	0	0	0	0	1	0	0	0	5767	1233	43	4	514	4	FBXO40	3	121340784	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	208730	121340784	76681646	39	4304										
GOLGB1	2804	genome.wustl.edu	37	chr3	121409639	121409639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctctgactttcgaaatttctCcagctcattccacaggtgat	6	12	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:121409639C>G	ENST00000340645.5	-	14	8682	c.8557G>C	c.(8557-8559)Gag>Cag	p.E2853Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2858Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2853					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CGAAATTTCTCCAGCTCATTC	0.463																																																	0													64	62	63					3																	121409639		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8557G>C	3.37:g.121409639C>G	ENSP00000341848:p.Glu2853Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2853Q	ENST00000340645.5	37	c.8557	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	9.542	1.113553	0.20795	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15256	2.44;2.44	5.3	2.41	0.29592	.	0.673922	0.14085	N	0.342415	T	0.11410	0.0278	N	0.19112	0.55	0.19300	N	0.999975	P;B;P	0.42409	0.779;0.038;0.666	P;B;B	0.44359	0.447;0.015;0.259	T	0.17410	-1.0370	10	0.22109	T	0.4	.	5.9098	0.19020	0.0:0.5308:0.3127:0.1566	.	2858;2858;2853	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2853;2858	ENSP00000341848:E2853Q;ENSP00000377275:E2858Q	ENSP00000341848:E2853Q	E	-	1	0	GOLGB1	122892329	0.002000	0.14202	0.857000	0.33713	0.954000	0.61252	0.712000	0.25779	0.759000	0.33084	0.655000	0.94253	GAG	GOLGB1	-	superfamily_STAT_TF_coiled-coil		0.463	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121409639	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.470	G	G	121409639	C	G	121409639	3	3	32	1	0	0	0	0	1	0	0	0	6584	864	30	1	1258	1	GOLGB1	3	121409639	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	68855	121409639	76612791	40	4305										
UROC1	131669	genome.wustl.edu	37	chr3	126218960	126218960	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccagaagaagaacttctcctCggccaacctgttgatggctg	10	12	1	4	rs547424830		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:126218960C>A	ENST00000290868.2	-	12	1236	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	UROC1_ENST00000383579.3_Nonsense_Mutation_p.E455*	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	395					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AACTTCTCCTCGGCCAACCTG	0.622																																																	0													109	95	100					3																	126218960		2203	4300	6503	SO:0001587	stop_gained	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1183G>T	3.37:g.126218960C>A	ENSP00000290868:p.Glu395*		E9PE13|Q14C64|Q68CJ7	Nonsense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.E395*	ENST00000290868.2	37	c.1183	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	c	18.66	3.671115	0.67814	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	.	.	.	4.68	-9.35	0.00633	.	0.451186	0.23866	N	0.043796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-15.1375	10.4335	0.44421	0.0:0.3075:0.585:0.1075	.	.	.	.	X	395;455	.	ENSP00000290868:E395X	E	-	1	0	UROC1	127701650	0.975000	0.34042	0.067000	0.19924	0.372000	0.29890	0.507000	0.22675	-1.185000	0.02716	-1.265000	0.01443	GAG	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.622	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126218960	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	nonsense	SNP	0.694	A	A	126218960	C	A	126218960	4	1	32	1	0	0	0	0	0	1	0	0	17059	893	31	3	883	3	UROC1	3	126218960	Nonsense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	4809321	126218960	71803470	41	4306										
AADAC	13	genome.wustl.edu	37	chr3	151532064	151532064	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agaatgatgtggataaacgcAcatctgaaaactatacaaaa	7	6	1	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:151532064A>G	ENST00000232892.7	+	1	240	c.114A>G	c.(112-114)gcA>gcG	p.A38A	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Silent_p.A38A|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	38					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGATAAACGCACATCTGAAAA	0.378																																					Ovarian(30;839 841 2699 32801 46334)												0													61	60	61					3																	151532064		2203	4300	6503	SO:0001819	synonymous_variant	13			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.114A>G	3.37:g.151532064A>G			A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase	p.A38	ENST00000232892.7	37	c.114	CCDS33877.1	3																																																																																			AADAC	-	pirsf_Arylacetamide_deacetylase		0.378	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADAC	HGNC	protein_coding	OTTHUMT00000357883.2	A	NM_001086		151532064	1	no_errors	ENST00000232892	ensembl	human	known	70_37	silent	SNP	0.000	G	G	151532064	A	G	151532064	2	3	32	1	0	0	0	0	0	0	0	1	10	146	6	5		5	AADAC	3	151532064	Silent	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	25313104	151532064	46490366	42	4307										
PLCH1	23007	genome.wustl.edu	37	chr3	155200357	155200357	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aatgtaggtcaggtatgtcaGaacagagcatggagacgtct	13	6	3	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:155200357G>C	ENST00000340059.7	-	23	3481	c.3482C>G	c.(3481-3483)tCt>tGt	p.S1161C	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1123C|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1123C|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1123C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1161					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGTATGTCAGAACAGAGCAT	0.433																																																	0													79	76	77					3																	155200357		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3482C>G	3.37:g.155200357G>C	ENSP00000345988:p.Ser1161Cys		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S1161C	ENST00000340059.7	37	c.3482	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921908	0.52653	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.57	4.7	0.59300	.	0.979395	0.08436	N	0.946173	T	0.46367	0.1389	L	0.29908	0.895	0.09310	N	1	D;P	0.55385	0.971;0.951	P;B	0.49047	0.599;0.395	T	0.34129	-0.9841	10	0.87932	D	0	.	10.0925	0.42456	0.0711:0.0:0.7921:0.1368	.	1123;1161	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1123;1161;1123;1123	ENSP00000417502:S1123C;ENSP00000345988:S1161C;ENSP00000335469:S1123C;ENSP00000412977:S1123C	ENSP00000335469:S1123C	S	-	2	0	PLCH1	156683051	1.000000	0.71417	0.004000	0.12327	0.018000	0.09664	6.456000	0.73501	1.356000	0.45884	0.591000	0.81541	TCT	PLCH1	-	NULL		0.433	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155200357	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.007	C	C	155200357	G	C	155200357	3	2	32	1	0	0	0	0	1	0	0	0	12061	942	33	1	1603	1	PLCH1	3	155200357	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	3668293	155200357	42822073	43	4308										
C3orf55	152078	genome.wustl.edu	37	chr3	157318145	157318145	+	3'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccatactactataaatacttCtaagagaagatttatcttga	4	7	2	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:157318145C>G	ENST00000449199.2	+	0	607				C3orf55_ENST00000426338.2_Missense_Mutation_p.S126C|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			ATAAATACTTCTAAGAGAAGA	0.323																																																	0													79	72	74					3																	157318145		692	1591	2283	SO:0001624	3_prime_UTR_variant	152078																														ENST00000449199.2:c.*58C>G	3.37:g.157318145C>G			C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP	NULL	p.S126C	ENST00000449199.2	37	c.377	CCDS46943.1	3	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134384	0.37630	.	.	ENSG00000174899	ENST00000426338	T	0.54279	0.58	3.3	1.37	0.22104	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.25433	-1.0132	9	0.87932	D	0	.	3.8416	0.08917	0.2363:0.6339:0.0:0.1298	.	126	C9JXB5	.	C	126	ENSP00000387918:S126C	ENSP00000387918:S126C	S	+	2	0	C3orf55	158800839	0.006000	0.16342	0.022000	0.16811	0.168000	0.22595	0.196000	0.17176	0.360000	0.24265	-0.150000	0.13652	TCT	C3orf55	-	NULL		0.323	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	HGNC	protein_coding	OTTHUMT00000352018.1	C			157318145	1	no_errors	ENST00000426338	ensembl	human	known	70_37	missense	SNP	0.029	G	G	157318145	C	G	157318145	1	3	32	0	1	0	0	0	0	0	0	0	2239	913	32	1		1	C3orf55	3	157318145	3'UTR	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2117788	157318145	40704285	44	4309										
LRRIQ4	344657	genome.wustl.edu	37	chr3	169540456	169540456	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cacaacctcctccactccatCccgaagagcttcgccgagct	6	19	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:169540456C>T	ENST00000340806.6	+	1	747	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	249										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCCACTCCATCCCGAAGAGCT	0.582																																																	0													37	41	40					3																	169540456		1999	4157	6156	SO:0001819	synonymous_variant	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.747C>T	3.37:g.169540456C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.I249	ENST00000340806.6	37	c.747	CCDS46951.1	3																																																																																			LRRIQ4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.582	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	C	NM_001080460		169540456	1	no_errors	ENST00000340806	ensembl	human	known	70_37	silent	SNP	0.339	T	T	169540456	C	T	169540456	2	4	32	1	0	0	0	0	0	0	0	1	9054	845	30	1		1	LRRIQ4	3	169540456	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	12222311	169540456	28481974	45	4310										
PEX5L	51555	genome.wustl.edu	37	chr3	179526207	179526207	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gcttccagatataattccttCaccccttccagaacagagct	5	14	1	3	rs200365342		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:179526207C>T	ENST00000467460.1	-	13	1701	c.1371G>A	c.(1369-1371)gtG>gtA	p.V457V	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.V433V|PEX5L_ENST00000476138.1_Silent_p.V414V|PEX5L_ENST00000485199.1_Silent_p.V422V|PEX5L_ENST00000263962.8_Silent_p.V455V|PEX5L_ENST00000472994.1_Silent_p.V398V|PEX5L_ENST00000464614.1_Silent_p.V349V|PEX5L_ENST00000468741.1_Silent_p.V265V|PEX5L_ENST00000392649.3_Silent_p.V349V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	457					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATAATTCCTTCACCCCTTCCA	0.393																																																	0													87	92	91					3																	179526207		2203	4300	6503	SO:0001819	synonymous_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1371G>A	3.37:g.179526207C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V457	ENST00000467460.1	37	c.1371	CCDS3236.1	3																																																																																			PEX5L	-	pfscan_TPR-contain_dom		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179526207	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	silent	SNP	0.999	T	T	179526207	C	T	179526207	2	4	32	1	0	0	0	0	0	0	0	1	11773	813	29	1		1	PEX5L	3	179526207	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	9985751	179526207	18496223	46	4311										
B3GNT5	84002	genome.wustl.edu	37	chr3	182987731	182987731	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atatgaagtcatattcttacAgatacctcataaatagctat	4	7	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:182987731A>T	ENST00000326505.3	+	2	675	c.145A>T	c.(145-147)Aga>Tga	p.R49*	B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.R49*|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.R49*|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	49					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATATTCTTACAGATACCTCAT	0.378																																																	0													127	125	126					3																	182987731		2203	4300	6503	SO:0001587	stop_gained	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.145A>T	3.37:g.182987731A>T	ENSP00000316173:p.Arg49*		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.R49*	ENST00000326505.3	37	c.145	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	A	37	6.367999	0.97511	.	.	ENSG00000176597	ENST00000326505;ENST00000464191;ENST00000460419;ENST00000464923;ENST00000465010;ENST00000481531	.	.	.	5.93	4.73	0.59995	.	0.285900	0.20250	N	0.096088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.378	0.60750	0.8692:0.1308:0.0:0.0	.	.	.	.	X	49	.	ENSP00000316173:R49X	R	+	1	2	B3GNT5	184470425	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.654000	0.54453	2.263000	0.75096	0.533000	0.62120	AGA	B3GNT5	-	NULL		0.378	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	A	NM_032047		182987731	1	no_errors	ENST00000326505	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	182987731	A	T	182987731	4	4	32	1	0	0	0	0	0	1	0	0	1261	180	7	5	147	5	B3GNT5	3	182987731	Nonsense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	3461524	182987731	15034699	47	4312										
ECE2	9718	genome.wustl.edu	37	chr3	183995182	183995182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttcggaggaaccccctgcccGatgggcgttctcgctggaac	13	14	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:183995182G>A	ENST00000402825.3	+	4	760	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ECE2_ENST00000357474.5_Missense_Mutation_p.D182N|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D136N|ECE2_ENST00000359140.4_Missense_Mutation_p.D107N	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	254	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCTGCCCGATGGGCGTTC	0.602																																																	0													51	52	52					3																	183995182		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.760G>A	3.37:g.183995182G>A	ENSP00000384223:p.Asp254Asn		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.D254N	ENST00000402825.3	37	c.760	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422726	0.43020	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.97	4.18	0.49190	Peptidase M13 (1);	0.247438	0.45867	N	0.000338	T	0.65123	0.2661	L	0.42632	1.34	0.48571	D	0.999672	B;B;B;B;B;B	0.13145	0.007;0.006;0.0;0.002;0.001;0.006	B;B;B;B;B;B	0.15870	0.004;0.014;0.0;0.002;0.001;0.004	T	0.59830	-0.7380	10	0.46703	T	0.11	-15.2473	9.5488	0.39297	0.231:0.0:0.769:0.0	.	107;182;136;182;107;254	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	N	254;107;136;182;128	ENSP00000384223:D254N;ENSP00000352052:D107N;ENSP00000385846:D136N;ENSP00000350066:D182N;ENSP00000398444:D128N	ENSP00000350066:D182N	D	+	1	0	ECE2	185477876	1.000000	0.71417	0.478000	0.27316	0.453000	0.32348	4.897000	0.63231	0.858000	0.35431	-0.123000	0.14984	GAT	ECE2	-	pfam_Peptidase_M13_N		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		183995182	1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	0.987	A	A	183995182	G	A	183995182	3	1	32	1	0	0	0	0	1	0	0	0	4900	1058	37	1	1338	1	ECE2	3	183995182	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1007451	183995182	14027248	48	4313										
ECE2	9718	genome.wustl.edu	37	chr3	184001608	184001608	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctggattacatggaggaactGgggatgctgctgggtgggcg	19	6	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:184001608G>C	ENST00000402825.3	+	8	1206	c.1206G>C	c.(1204-1206)ctG>ctC	p.L402L	ECE2_ENST00000357474.5_Silent_p.L330L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.L284L|ECE2_ENST00000359140.4_Silent_p.L255L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	402	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAGGAACTGGGGATGCTGC	0.602																																																	0													53	49	50					3																	184001608		2203	4300	6503	SO:0001819	synonymous_variant	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1206G>C	3.37:g.184001608G>C			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.L402	ENST00000402825.3	37	c.1206	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_N		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		184001608	1	no_errors	ENST00000402825	ensembl	human	known	70_37	silent	SNP	1.000	C	C	184001608	G	C	184001608	2	2	32	1	0	0	0	0	0	0	0	1	4900	1335	47	4		4	ECE2	3	184001608	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	6426	184001608	14020822	49	4314										
EPHA5	2044	genome.wustl.edu	37	chr4	66280031	66280031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tggtttcaaactcaaatcttCgactgaagacaccatagcct	6	11	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:66280031C>T	ENST00000273854.3	-	7	2258	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.R553Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.R389Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.R553Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	553	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCAAATCTTCGACTGAAGAC	0.418										TSP Lung(17;0.13)																																							0													156	132	140					4																	66280031		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1658G>A	4.37:g.66280031C>T	ENSP00000273854:p.Arg553Gln		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R553Q	ENST00000273854.3	37	c.1658	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382816	0.42207	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;D;T;T	0.84370	0.66;-1.84;0.66;0.66	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	D	0.82379	0.5024	N	0.04373	-0.215	0.58432	D	0.99999	D;P;D;D	0.89917	1.0;0.536;1.0;0.996	D;B;D;B	0.72075	0.946;0.201;0.976;0.373	T	0.75451	-0.3313	10	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	553;553;553;553	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	553;389;553;553	ENSP00000273854:R553Q;ENSP00000389208:R389Q;ENSP00000346899:R553Q;ENSP00000427638:R553Q	ENSP00000273854:R553Q	R	-	2	0	EPHA5	65962626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.940000	0.56599	2.941000	0.99782	0.655000	0.94253	CGA	EPHA5	-	superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.418	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	C	NM_004439		66280031	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66280031	C	T	66280031	3	4	32	1	0	0	0	0	1	0	0	0	5182	884	31	1	1503	1	EPHA5	4	66280031	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		66280031	124874245	50	4315										
AFP	174	genome.wustl.edu	37	chr4	74313271	74313271	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	accacgctggaacgtggtcaAtgtataattcatgcagaaaa	9	8	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:74313271A>T	ENST00000395792.2	+	8	1036	c.936A>T	c.(934-936)caA>caT	p.Q312H	AFP_ENST00000226359.2_Missense_Mutation_p.Q312H	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	312	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACGTGGTCAATGTATAATTC	0.368									Alpha-Fetoprotein, Hereditary Persistence of																																								0													46	46	46					4																	74313271		2203	4300	6503	SO:0001583	missense	174	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.936A>T	4.37:g.74313271A>T	ENSP00000379138:p.Gln312His		B2RBU3	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin	p.Q312H	ENST00000395792.2	37	c.936	CCDS3556.1	4	.	.	.	.	.	.	.	.	.	.	A	2.768	-0.256384	0.05829	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.73258	-0.73;-0.73	5.55	-11.1	0.00147	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.309680	0.04832	N	0.438951	T	0.33847	0.0877	N	0.05259	-0.085	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20605	-1.0270	10	0.02654	T	1	.	3.3564	0.07171	0.1102:0.3754:0.13:0.3844	.	154;312	B4DMX4;P02771	.;FETA_HUMAN	H	312	ENSP00000379138:Q312H;ENSP00000226359:Q312H	ENSP00000226359:Q312H	Q	+	3	2	AFP	74532135	0.000000	0.05858	0.002000	0.10522	0.116000	0.19942	-1.544000	0.02192	-2.420000	0.00564	-1.116000	0.02052	CAA	AFP	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.368	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	HGNC	protein_coding	OTTHUMT00000252284.3	A			74313271	1	no_errors	ENST00000395792	ensembl	human	known	70_37	missense	SNP	0.001	T	T	74313271	A	T	74313271	3	4	32	1	0	0	0	0	1	0	0	0	363	98	4	5	966	5	AFP	4	74313271	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	8033240	74313271	116841005	51	4316										
WDFY3	23001	genome.wustl.edu	37	chr4	85605214	85605214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgtgaacgtgttgacactcAcgatagggttcccattgatg	11	9	1	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:85605214A>G	ENST00000295888.4	-	63	10015	c.9608T>C	c.(9607-9609)gTg>gCg	p.V3203A	WDFY3_ENST00000322366.6_Missense_Mutation_p.V3186A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3203	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTGACACTCACGATAGGGTT	0.507																																																	0													126	106	112					4																	85605214		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9608T>C	4.37:g.85605214A>G	ENSP00000295888:p.Val3203Ala		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V3203A	ENST00000295888.4	37	c.9608	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	A	3.834	-0.035236	0.07543	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.27402	1.67;1.67	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.309084	0.35739	N	0.003016	T	0.06645	0.0170	N	0.00179	-1.91	0.36923	D	0.891473	B	0.02656	0.0	B	0.01281	0.0	T	0.31861	-0.9928	10	0.02654	T	1	.	10.8755	0.46909	0.9216:0.0:0.0784:0.0	.	3203	Q8IZQ1	WDFY3_HUMAN	A	3186;3203	ENSP00000318466:V3186A;ENSP00000295888:V3203A	ENSP00000295888:V3203A	V	-	2	0	WDFY3	85824238	1.000000	0.71417	0.990000	0.47175	0.558000	0.35554	4.561000	0.60809	2.244000	0.73946	0.528000	0.53228	GTG	WDFY3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	A	NM_014991		85605214	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85605214	A	G	85605214	3	3	32	1	0	0	0	0	1	0	0	0	17301	159	6	5	996	5	WDFY3	4	85605214	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09	11291943	85605214	105549062	52	4317										
SMARCAD1	56916	genome.wustl.edu	37	chr4	95199770	95199770	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgttttttctgtctcaggttCtcaagcagttaccccccaag	7	12	3	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:95199770C>G	ENST00000354268.4	+	18	2255	c.2182C>G	c.(2182-2184)Ctc>Gtc	p.L728V	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.L298V|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L728V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	728					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTCTCAGGTTCTCAAGCAGTT	0.328																																																	0													87	93	91					4																	95199770		2196	4300	6496	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2182C>G	4.37:g.95199770C>G	ENSP00000346217:p.Leu728Val		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L728V	ENST00000354268.4	37	c.2182	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082029	0.76528	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.55	5.55	0.83447	SNF2-related (1);	0.000000	0.44688	D	0.000426	D	0.95683	0.8596	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94075	0.7339	10	0.22706	T	0.39	-8.3376	12.7947	0.57553	0.0:0.9251:0.0:0.0749	.	728;728	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	V	728;728;728;298	ENSP00000351947:L728V;ENSP00000415576:L728V;ENSP00000346217:L728V;ENSP00000423286:L298V	ENSP00000346217:L728V	L	+	1	0	SMARCAD1	95418793	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.941000	0.63540	2.616000	0.88540	0.650000	0.86243	CTC	SMARCAD1	-	pfam_SNF2_N		0.328	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	C	NM_020159		95199770	1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95199770	C	G	95199770	3	3	32	1	0	0	0	0	1	0	0	0	14802	913	32	1	2248	1	SMARCAD1	4	95199770	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	9594556	95199770	95954506	53	4318										
FHDC1	85462	genome.wustl.edu	37	chr4	153864376	153864376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttcaagggaagagtgtccttCctcccctcctccacccccac	6	19	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:153864376C>T	ENST00000511601.1	+	2	355	c.167C>T	c.(166-168)tCc>tTc	p.S56F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S56F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	56									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGTGTCCTTCCTCCCCTCCT	0.612																																																	0													79	55	63					4																	153864376		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.167C>T	4.37:g.153864376C>T	ENSP00000427567:p.Ser56Phe			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.S56F	ENST00000511601.1	37	c.167	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	8.275	0.814278	0.16537	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.33216	1.42;1.42	4.57	4.57	0.56435	.	4.607260	0.00357	N	0.000030	T	0.28599	0.0708	N	0.08118	0	0.19775	N	0.999958	P	0.46277	0.875	P	0.44732	0.459	T	0.54384	-0.8302	10	0.72032	D	0.01	.	15.1576	0.72755	0.0:1.0:0.0:0.0	.	56	Q9C0D6	FHDC1_HUMAN	F	56	ENSP00000427567:S56F;ENSP00000260008:S56F	ENSP00000260008:S56F	S	+	2	0	FHDC1	154083826	0.001000	0.12720	0.410000	0.26471	0.061000	0.15899	0.940000	0.28992	2.106000	0.64143	0.462000	0.41574	TCC	FHDC1	-	NULL		0.612	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	C	NM_033393		153864376	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.475	T	T	153864376	C	T	153864376	3	4	32	1	0	0	0	0	1	0	0	0	5894	855	30	1	169	1	FHDC1	4	153864376	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	58664606	153864376	37289900	54	4319										
KIAA1430	57587	genome.wustl.edu	37	chr4	186111575	186111575	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gagggctaatgtctggagttGataagggacttacgtcagtc	14	6	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:186111575G>C	ENST00000458385.2	-	2	895	c.776C>G	c.(775-777)tCa>tGa	p.S259*	KIAA1430_ENST00000514798.1_Nonsense_Mutation_p.S259*|KIAA1430_ENST00000296775.6_Nonsense_Mutation_p.S259*	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		259										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GTCTGGAGTTGATAAGGGACT	0.393																																																	0													113	98	103					4																	186111575		1889	4114	6003	SO:0001587	stop_gained	57587																														ENST00000458385.2:c.776C>G	4.37:g.186111575G>C	ENSP00000409964:p.Ser259*		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Nonsense_Mutation	SNP	NULL	p.S259*	ENST00000458385.2	37	c.776	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387360	0.82902	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	.	.	.	5.55	4.71	0.59529	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3756	14.7549	0.69557	0.0699:0.0:0.9301:0.0	.	.	.	.	X	259	.	ENSP00000296775:S259X	S	-	2	0	KIAA1430	186348569	1.000000	0.71417	0.826000	0.32828	0.265000	0.26407	7.835000	0.86780	1.483000	0.48342	-0.140000	0.14226	TCA	KIAA1430	-	NULL		0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	G			186111575	-1	no_errors	ENST00000296775	ensembl	human	known	70_37	nonsense	SNP	0.993	C	C	186111575	G	C	186111575	4	2	32	1	0	0	0	0	0	1	0	0	8252	1294	45	1	838	1	KIAA1430	4	186111575	Nonsense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	32247199	186111575	5042701	55	4320										
CTNND2	1501	genome.wustl.edu	37	chr5	11082931	11082931	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gggcaggcctttctcttttcGgacagcggctcggatatata	12	10	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:11082931G>A	ENST00000304623.8	-	16	2854	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R798*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R552*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R831*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R456*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	889					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R889*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTCTTTTCGGACAGCGGCT	0.537																																																	1	Substitution - Nonsense(1)	lung(1)											80	72	75					5																	11082931		2203	4300	6503	SO:0001587	stop_gained	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2665C>T	5.37:g.11082931G>A	ENSP00000307134:p.Arg889*		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R889*	ENST00000304623.8	37	c.2665	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.535527	0.99423	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1838	18.4893	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	889;831;798;456;552	.	ENSP00000307134:R889X	R	-	1	2	CTNND2	11135931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.525000	0.73795	2.439000	0.82584	0.563000	0.77884	CGA	CTNND2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.537	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	G	NM_001332		11082931	-1	no_errors	ENST00000304623	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	11082931	G	A	11082931	4	1	32	1	0	0	0	0	0	1	0	0	4025	1124	39	2	1040	2	CTNND2	5	11082931	Nonsense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		11082931	169832329	56	4321										
MYO10	4651	genome.wustl.edu	37	chr5	16703225	16703225	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aggaatgctctgtaattcttCtgtattatcaccacacaata	5	9	4	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:16703225C>T	ENST00000513610.1	-	23	2773	c.2319G>A	c.(2317-2319)caG>caA	p.Q773Q	MYO10_ENST00000427430.2_Silent_p.Q130Q|MYO10_ENST00000505695.1_Silent_p.Q112Q|MYO10_ENST00000274203.9_Silent_p.Q130Q|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000515803.1_Silent_p.Q112Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	773	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTAATTCTTCTGTATTATCA	0.398																																																	0													42	36	38					5																	16703225		1840	4086	5926	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2319G>A	5.37:g.16703225C>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.Q773	ENST00000513610.1	37	c.2319	CCDS54834.1	5																																																																																			MYO10	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS		0.398	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16703225	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	silent	SNP	1.000	T	T	16703225	C	T	16703225	2	4	32	1	0	0	0	0	0	0	0	1	10085	912	32	1		1	MYO10	5	16703225	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	5620294	16703225	164212035	57	4322										
RNASEN	29102	genome.wustl.edu	37	chr5	31504711	31504711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttcctgtgcgtcttgcctttGcgctgcatttgcagagtggt	12	10	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:31504711G>T	ENST00000511367.2	-	10	1863	c.1619C>A	c.(1618-1620)gCa>gAa	p.A540E	DROSHA_ENST00000344624.3_Missense_Mutation_p.A540E|DROSHA_ENST00000513349.1_Missense_Mutation_p.A503E|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000442743.1_Missense_Mutation_p.A503E	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	540	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCTTGCCTTTGCGCTGCATTT	0.438																																																	0													162	151	155					5																	31504711		1981	4177	6158	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1619C>A	5.37:g.31504711G>T	ENSP00000425979:p.Ala540Glu		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.A540E	ENST00000511367.2	37	c.1619	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034636	0.54896	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.50001	1.38;1.38;0.76;0.76	5.11	5.11	0.69529	.	0.111186	0.64402	D	0.000010	T	0.48429	0.1499	M	0.61703	1.905	0.80722	D	1	B;B;B	0.27117	0.168;0.105;0.155	B;B;B	0.32805	0.153;0.034;0.058	T	0.51036	-0.8756	10	0.66056	D	0.02	-17.4384	12.4197	0.55514	0.0768:0.0:0.9232:0.0	.	472;503;540	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	E	540;540;503;503;465;496	ENSP00000425979:A540E;ENSP00000339845:A540E;ENSP00000409335:A503E;ENSP00000424161:A503E	ENSP00000265075:A465E	A	-	2	0	DROSHA	31540468	1.000000	0.71417	0.973000	0.42090	0.955000	0.61496	6.941000	0.75922	2.802000	0.96397	0.563000	0.77884	GCA	DROSHA	-	NULL		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	G	NM_013235		31504711	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	missense	SNP	0.998	T	T	31504711	G	T	31504711	3	4	32	1	0	0	0	0	1	0	0	0	13447	1319	46	4	2609	4	RNASEN	5	31504711	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	14801486	31504711	149410549	58	4323										
ITGA2	3673	genome.wustl.edu	37	chr5	52344281	52344281	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cagtcctgattttcagctctCagccagcttctcacctgcaa	6	15	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:52344281C>T	ENST00000296585.5	+	5	619	c.476C>T	c.(475-477)tCa>tTa	p.S159L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	159					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCAGCTCTCAGCCAGCTTC	0.453																																																	0													146	136	140					5																	52344281		2203	4300	6503	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.476C>T	5.37:g.52344281C>T	ENSP00000296585:p.Ser159Leu		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S159L	ENST00000296585.5	37	c.476	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	C	7.304	0.613686	0.14066	.	.	ENSG00000164171	ENST00000296585	T	0.58358	0.34	5.34	2.93	0.34026	.	0.380247	0.23964	N	0.042830	T	0.19927	0.0479	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19386	-1.0307	10	0.25106	T	0.35	.	7.6113	0.28131	0.0:0.0751:0.1413:0.7836	.	159;159	E7ESP4;P17301	.;ITA2_HUMAN	L	159	ENSP00000296585:S159L	ENSP00000296585:S159L	S	+	2	0	ITGA2	52380038	0.061000	0.20836	0.223000	0.23860	0.726000	0.41606	1.319000	0.33655	0.327000	0.23409	-0.484000	0.04775	TCA	ITGA2	-	NULL		0.453	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	C	NM_002203		52344281	1	no_errors	ENST00000296585	ensembl	human	known	70_37	missense	SNP	0.004	T	T	52344281	C	T	52344281	3	4	32	1	0	0	0	0	1	0	0	0	7895	838	29	1	494	1	ITGA2	5	52344281	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	20839570	52344281	128570979	59	4324										
RASGRF2	5924	genome.wustl.edu	37	chr5	80256591	80256591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgcgctacaacgaggggcacGccctgtacctggcctttctg	12	14	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:80256591G>A	ENST00000265080.4	+	1	101	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	12					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CGAGGGGCACGCCCTGTACCT	0.692																																																	0													18	20	19					5																	80256591		2202	4299	6501	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.34G>A	5.37:g.80256591G>A	ENSP00000265080:p.Ala12Thr		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A12T	ENST00000265080.4	37	c.34	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.264758	0.59431	.	.	ENSG00000113319	ENST00000265080	T	0.75154	-0.91	4.22	4.22	0.49857	.	0.065209	0.64402	D	0.000010	T	0.57946	0.2088	N	0.22421	0.69	0.36004	D	0.837558	B	0.14438	0.01	B	0.09377	0.004	T	0.60632	-0.7225	10	0.35671	T	0.21	.	9.1632	0.37035	0.1033:0.0:0.8967:0.0	.	12	O14827	RGRF2_HUMAN	T	12	ENSP00000265080:A12T	ENSP00000265080:A12T	A	+	1	0	RASGRF2	80292347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.747000	0.68689	1.900000	0.55004	0.556000	0.70494	GCC	RASGRF2	-	NULL		0.692	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	G	NM_006909		80256591	1	no_errors	ENST00000265080	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80256591	G	A	80256591	3	1	32	1	0	0	0	0	1	0	0	0	13103	1087	38	2	36	2	RASGRF2	5	80256591	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	27912310	80256591	100658669	60	4325										
GPR98	84059	genome.wustl.edu	37	chr5	89979428	89979428	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aagacatcatggaactctgtCtccagtgactttgcattgga	9	9	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:89979428C>T	ENST00000405460.2	+	28	5786	c.5690C>T	c.(5689-5691)tCt>tTt	p.S1897F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1897	Calx-beta 13. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAACTCTGTCTCCAGTGACT	0.378																																																	0													46	44	45					5																	89979428		1916	4118	6034	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5690C>T	5.37:g.89979428C>T	ENSP00000384582:p.Ser1897Phe		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S1897F	ENST00000405460.2	37	c.5690	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562221	0.65538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27720	1.65	5.56	5.56	0.83823	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64719	-0.6341	10	0.72032	D	0.01	.	19.5148	0.95159	0.0:1.0:0.0:0.0	.	1897	Q8WXG9	GPR98_HUMAN	F	1897	ENSP00000384582:S1897F	ENSP00000296619:S1897F	S	+	2	0	GPR98	90015184	1.000000	0.71417	0.820000	0.32676	0.802000	0.45316	6.201000	0.72124	2.609000	0.88269	0.585000	0.79938	TCT	GPR98	-	smart_Calx_beta		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		89979428	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.994	T	T	89979428	C	T	89979428	3	4	32	1	0	0	0	0	1	0	0	0	6741	913	32	1	5800	1	GPR98	5	89979428	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	9722837	89979428	90935832	61	4326										
GPR98	84059	genome.wustl.edu	37	chr5	90052925	90052925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aagcatcaccagacagtgctGgcctggaagactttaaacca	9	11	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:90052925G>T	ENST00000405460.2	+	57	11983	c.11887G>T	c.(11887-11889)Ggc>Tgc	p.G3963C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3963	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACAGTGCTGGCCTGGAAGA	0.453																																																	0													88	90	89					5																	90052925		1873	4109	5982	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11887G>T	5.37:g.90052925G>T	ENSP00000384582:p.Gly3963Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G3963C	ENST00000405460.2	37	c.11887	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195099	0.58017	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29917	1.55	5.08	3.26	0.37387	Na-Ca exchanger/integrin-beta4 (2);	0.354433	0.36628	N	0.002493	T	0.40522	0.1120	L	0.48362	1.52	0.23906	N	0.996509	D;D	0.57899	0.981;0.97	P;P	0.59546	0.859;0.65	T	0.11155	-1.0599	10	0.56958	D	0.05	.	9.7828	0.40658	0.287:0.0:0.713:0.0	.	3963;3963	E7ETI5;Q8WXG9	.;GPR98_HUMAN	C	3963	ENSP00000384582:G3963C	ENSP00000296619:G3963C	G	+	1	0	GPR98	90088681	0.836000	0.29430	0.681000	0.30009	0.916000	0.54674	2.047000	0.41269	1.271000	0.44313	0.467000	0.42956	GGC	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90052925	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.370	T	T	90052925	G	T	90052925	3	4	32	1	0	0	0	0	1	0	0	0	6741	1348	47	4	12113	4	GPR98	5	90052925	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	73497	90052925	90862335	62	4327										
ST8SIA4	7903	genome.wustl.edu	37	chr5	100231456	100231456	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgattttatcagagctattGacaagtgaccgactcaaaga	8	7	2	5			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:100231456G>C	ENST00000231461.5	-	2	457	c.147C>G	c.(145-147)gtC>gtG	p.V49V	ST8SIA4_ENST00000451528.2_Silent_p.V49V	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	49					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CAGAGCTATTGACAAGTGACC	0.378																																																	0													110	106	107					5																	100231456		2203	4299	6502	SO:0001819	synonymous_variant	7903			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.147C>G	5.37:g.100231456G>C			A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V49	ENST00000231461.5	37	c.147	CCDS4091.1	5																																																																																			ST8SIA4	-	pirsf_Sialyl_trans		0.378	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	G	NM_005668		100231456	-1	no_errors	ENST00000231461	ensembl	human	known	70_37	silent	SNP	1.000	C	C	100231456	G	C	100231456	2	2	32	1	0	0	0	0	0	0	0	1	15264	1277	45	1		1	ST8SIA4	5	100231456	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	10178531	100231456	80683804	63	4328										
FAM13B	51306	genome.wustl.edu	37	chr5	137292184	137292184	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	accctccccatctctctgcaGatgcattgttttgaaatcaa	5	13	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:137292184G>A	ENST00000033079.3	-	14	1893				FAM13B_ENST00000425075.2_Silent_p.L379L|FAM13B_ENST00000420893.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TCTCTCTGCAGATGCATTGTT	0.373																																																	0													80	70	73					5																	137292184		1878	4095	5973	SO:0001627	intron_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1442-2119C>T	5.37:g.137292184G>A			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	p.L379	ENST00000033079.3	37	c.1135	CCDS4195.1	5																																																																																			FAM13B	-	NULL		0.373	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	G			137292184	-1	no_errors	ENST00000425075	ensembl	human	known	70_37	silent	SNP	1.000	A	A	137292184	G	A	137292184	1	1	32	0	1	0	0	0	0	0	0	0	5468	933	33	1		1	FAM13B	5	137292184	Intron	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	37060728	137292184	43623076	64	4329										
ETF1	2107	genome.wustl.edu	37	chr5	137846755	137846755	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttctgtgccttggcaatgaaGaacatatctcattatatcca	6	9	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:137846755G>A	ENST00000360541.5	-	8	1218	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	ETF1_ENST00000499810.2_Missense_Mutation_p.L300F|ETF1_ENST00000503014.1_Missense_Mutation_p.L319F	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	333					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGCAATGAAGAACATATCTC	0.403																																																	0													69	69	69					5																	137846755		2203	4300	6503	SO:0001583	missense	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.997C>T	5.37:g.137846755G>A	ENSP00000353741:p.Leu333Phe		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.L333F	ENST00000360541.5	37	c.997	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032036	0.54790	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.93	5.93	0.95920	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.76170	2.325	0.80722	D	1	B;B	0.14012	0.008;0.009	B;B	0.20384	0.012;0.029	T	0.63484	-0.6627	9	0.45353	T	0.12	-1.0979	13.1953	0.59734	0.0732:0.0:0.9268:0.0	.	319;333	B7Z7P8;P62495	.;ERF1_HUMAN	F	300;333;319	.	ENSP00000353741:L333F	L	-	1	0	ETF1	137874654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.673000	0.68109	2.798000	0.96311	0.655000	0.94253	CTT	ETF1	-	pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	G	NM_004730		137846755	-1	no_errors	ENST00000360541	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137846755	G	A	137846755	3	1	32	1	0	0	0	0	1	0	0	0	5280	942	33	1	332	1	ETF1	5	137846755	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	554571	137846755	43068505	65	4330										
PCDHA5	56143	genome.wustl.edu	37	chr5	140202138	140202138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgcaccaagtgggacattaGttattaaactgaacgcctca	8	9	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:140202138G>T	ENST00000529859.1	+	1	778	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V260F|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V260F|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGACATTAGTTATTAAACT	0.343																																																	0													59	62	61					5																	140202138		2203	4299	6502	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.778G>T	5.37:g.140202138G>T	ENSP00000436557:p.Val260Phe		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V260F	ENST00000529859.1	37	c.778	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523379	0.44866	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.67865	-0.29;-0.29;-0.29	4.11	4.11	0.48088	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86293	0.5898	H	0.95950	3.745	0.25540	N	0.987183	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.972;0.96	T	0.78518	-0.2173	9	0.87932	D	0	.	11.3877	0.49796	0.0895:0.0:0.9105:0.0	.	260;260;260	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	F	260	ENSP00000433416:V260F;ENSP00000436557:V260F;ENSP00000367366:V260F	ENSP00000367366:V260F	V	+	1	0	PCDHA5	140182322	0.353000	0.24904	0.278000	0.24718	0.992000	0.81027	0.644000	0.24766	1.995000	0.58328	0.655000	0.94253	GTT	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.343	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	G	NM_018908		140202138	1	no_errors	ENST00000529859	ensembl	human	known	70_37	missense	SNP	0.525	T	T	140202138	G	T	140202138	3	4	32	1	0	0	0	0	1	0	0	0	11551	1029	36	4	780	4	PCDHA5	5	140202138	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	2355383	140202138	40713122	66	4331										
PCDHGA10	56106	genome.wustl.edu	37	chr5	140793061	140793061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gcgctcagagcgcgcggtgcGtggtgagttttaatatcctt	14	9	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:140793061G>A	ENST00000398610.2	+	1	319	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGGTGCGTGGTGAGTTT	0.512																																																	0													69	82	78					5																	140793061		2127	4281	6408	SO:0001583	missense	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.319G>A	5.37:g.140793061G>A	ENSP00000381611:p.Val107Met		Q9Y5E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V107M	ENST00000398610.2	37	c.319	CCDS47292.1	5	.	.	.	.	.	.	.	.	.	.	c	10.85	1.466448	0.26335	.	.	ENSG00000253846	ENST00000398610	T	0.31510	1.49	5.78	2.89	0.33648	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27098	0.0664	M	0.67569	2.06	0.09310	N	0.999997	B;B	0.30937	0.256;0.301	B;B	0.23419	0.039;0.046	T	0.24476	-1.0159	9	0.48119	T	0.1	.	4.6784	0.12724	0.2204:0.3514:0.3561:0.072	.	107;107	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	M	107	ENSP00000381611:V107M	ENSP00000381611:V107M	V	+	1	0	PCDHGA10	140773245	0.000000	0.05858	0.963000	0.40424	0.967000	0.64934	-1.794000	0.01753	0.781000	0.33589	-0.234000	0.12200	GTG	PCDHGA10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	G	NM_018913		140793061	1	no_errors	ENST00000398610	ensembl	human	known	70_37	missense	SNP	0.546	A	A	140793061	G	A	140793061	3	1	32	1	0	0	0	0	1	0	0	0	11575	1145	40	2	321	2	PCDHGA10	5	140793061	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	590923	140793061	40122199	67	4332										
DIAPH1	1729	genome.wustl.edu	37	chr5	140963701	140963701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	caggactcacagccttggagGtgtacaagtattgggacacc	12	10	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:140963701G>A	ENST00000398557.4	-	4	532	c.392C>T	c.(391-393)aCc>aTc	p.T131I	DIAPH1_ENST00000518047.1_Missense_Mutation_p.T122I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.T122I|DIAPH1_ENST00000389054.3_Missense_Mutation_p.T131I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.T77I|DIAPH1_ENST00000253811.6_Missense_Mutation_p.T131I|DIAPH1_ENST00000389057.5_Missense_Mutation_p.T122I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.T122I	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	131	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTTGGAGGTGTACAAGTA	0.453																																																	0													99	96	97					5																	140963701		1922	4129	6051	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.392C>T	5.37:g.140963701G>A	ENSP00000381565:p.Thr131Ile		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.T131I	ENST00000398557.4	37	c.392	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001763	0.74932	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.6	5.6	0.85130	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.067529	0.56097	D	0.000024	D	0.92896	0.7740	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.92900	0.6338	10	0.59425	D	0.04	.	18.3847	0.90463	0.0:0.0:1.0:0.0	.	122;131	E9PEZ2;O60610	.;DIAP1_HUMAN	I	131;77;122;122;122;131;131;122;77	ENSP00000373706:T131I;ENSP00000429282:T77I;ENSP00000381570:T122I;ENSP00000373709:T122I;ENSP00000381572:T122I;ENSP00000381565:T131I;ENSP00000253811:T131I;ENSP00000428268:T122I;ENSP00000430587:T77I	ENSP00000253811:T131I	T	-	2	0	DIAPH1	140943885	1.000000	0.71417	0.996000	0.52242	0.343000	0.28985	8.395000	0.90188	2.642000	0.89623	0.491000	0.48974	ACC	DIAPH1	-	pfam_Drf_GTPase-bd		0.453	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		G	NM_005219		140963701	-1	no_errors	ENST00000253811	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140963701	G	A	140963701	3	1	32	1	0	0	0	0	1	0	0	0	4528	1261	44	4	3526	4	DIAPH1	5	140963701	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	170640	140963701	39951559	68	4333										
TIGD6	81789	genome.wustl.edu	37	chr5	149375702	149375702	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tcatcataaagagcgctcctCatccttttccgctggggtcc	8	14	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:149375702C>T	ENST00000296736.3	-	2	984	c.210G>A	c.(208-210)atG>atA	p.M70I	TIGD6_ENST00000515406.2_Missense_Mutation_p.M70I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	70	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAGCGCTCCTCATCCTTTTCC	0.433																																																	0													118	119	119					5																	149375702		2203	4300	6503	SO:0001583	missense	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.210G>A	5.37:g.149375702C>T	ENSP00000296736:p.Met70Ile		B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.M70I	ENST00000296736.3	37	c.210	CCDS4301.1	5	.	.	.	.	.	.	.	.	.	.	C	7.913	0.736919	0.15574	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.13778	2.56;2.56	4.76	2.98	0.34508	Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (1);Homeodomain-like (1);	0.172702	0.27345	U	0.019784	T	0.07052	0.0179	N	0.16656	0.425	0.09310	N	0.999997	B	0.13145	0.007	B	0.15484	0.013	T	0.38607	-0.9653	10	0.17832	T	0.49	.	6.7315	0.23385	0.0:0.7153:0.0:0.2847	.	70	Q17RP2	TIGD6_HUMAN	I	70	ENSP00000296736:M70I;ENSP00000425318:M70I	ENSP00000296736:M70I	M	-	3	0	TIGD6	149355895	0.164000	0.22935	0.410000	0.26471	0.892000	0.51952	0.401000	0.20948	0.746000	0.32786	0.555000	0.69702	ATG	TIGD6	-	superfamily_Homeodomain-like		0.433	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	C	NM_030953		149375702	-1	no_errors	ENST00000296736	ensembl	human	known	70_37	missense	SNP	0.765	T	T	149375702	C	T	149375702	3	4	32	1	0	0	0	0	1	0	0	0	15930	826	29	1	1359	1	TIGD6	5	149375702	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	8412001	149375702	31539558	69	4334										
RASGEF1C	255426	genome.wustl.edu	37	chr5	179545796	179545796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gcctcatttacctcgaggatGaaaaacttggccgtcctcac	8	13	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:179545796G>A	ENST00000393371.2	-	8	1274	c.978C>T	c.(976-978)ttC>ttT	p.F326F	RASGEF1C_ENST00000361132.4_Silent_p.F326F|RASGEF1C_ENST00000522500.1_Silent_p.F175F|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	326	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCGAGGATGAAAAACTTGG	0.607																																																	0													113	120	117					5																	179545796		2203	4300	6503	SO:0001819	synonymous_variant	255426			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.978C>T	5.37:g.179545796G>A			D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F326	ENST00000393371.2	37	c.978	CCDS4452.1	5																																																																																			RASGEF1C	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.607	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	G	NM_175062		179545796	-1	no_errors	ENST00000361132	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179545796	G	A	179545796	2	1	32	1	0	0	0	0	0	0	0	1	13101	1281	45	1		1	RASGEF1C	5	179545796	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	30170094	179545796	1369464	70	4335										
NRSN1	140767	genome.wustl.edu	37	chr6	24145979	24145979	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	attggaggcacgtccatggcAgggtgcctgctgatgtcggt	16	9	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:24145979A>T	ENST00000378491.4	+	4	694	c.393A>T	c.(391-393)gcA>gcT	p.A131A		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CGTCCATGGCAGGGTGCCTGC	0.488																																																	0													89	79	83					6																	24145979		2203	4300	6503	SO:0001819	synonymous_variant	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.393A>T	6.37:g.24145979A>T				Silent	SNP	NULL	p.A131	ENST00000378491.4	37	c.393	CCDS4549.1	6																																																																																			NRSN1	-	NULL		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN1	HGNC	protein_coding	OTTHUMT00000043866.1	A	NM_080723		24145979	1	no_errors	ENST00000378491	ensembl	human	known	70_37	silent	SNP	0.037	T	T	24145979	A	T	24145979	2	4	32	1	0	0	0	0	0	0	0	1	10686	175	7	5		5	NRSN1	6	24145979	Silent	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09		24145979	146969088	71	4336										
FAM65B	9750	genome.wustl.edu	37	chr6	24861255	24861255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctctagctccacttcaatggTgcacatattctgcaaagagg	8	11	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:24861255T>C	ENST00000259698.4	-	8	749	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	FAM65B_ENST00000510784.2_Missense_Mutation_p.T226A|FAM65B_ENST00000540914.1_Missense_Mutation_p.T192A|FAM65B_ENST00000378023.4_Missense_Mutation_p.T192A|FAM65B_ENST00000538035.1_Missense_Mutation_p.T221A	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	192					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTTCAATGGTGCACATATTC	0.463																																																	0													60	57	58					6																	24861255		1986	4160	6146	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.574A>G	6.37:g.24861255T>C	ENSP00000259698:p.Thr192Ala		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T192A	ENST00000259698.4	37	c.574	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814225	0.32053	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	5.26	-0.134	0.13481	.	0.368551	0.32175	N	0.006466	T	0.00608	0.0020	L	0.38531	1.155	0.35120	D	0.766942	B;B;B;B	0.13594	0.004;0.008;0.002;0.003	B;B;B;B	0.18263	0.019;0.006;0.011;0.021	T	0.44922	-0.9296	10	0.08179	T	0.78	-4.671	9.6798	0.40063	0.0:0.2685:0.0:0.7315	.	226;221;192;192	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	A	192;221;192;192;226	ENSP00000259698:T192A;ENSP00000441138:T221A;ENSP00000367262:T192A;ENSP00000438425:T192A;ENSP00000441305:T226A	ENSP00000259698:T192A	T	-	1	0	FAM65B	24969234	0.989000	0.36119	0.987000	0.45799	0.991000	0.79684	0.173000	0.16724	-0.248000	0.09583	0.482000	0.46254	ACC	FAM65B	-	NULL		0.463	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	T			24861255	-1	no_errors	ENST00000259698	ensembl	human	known	70_37	missense	SNP	0.998	C	C	24861255	T	C	24861255	3	2	32	1	0	0	0	0	1	0	0	0	5618	1696	59	5	2706	5	FAM65B	6	24861255	Missense_Mutation	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	715276	24861255	146253812	72	4337										
TBC1D22B	55633	genome.wustl.edu	37	chr6	37284604	37284604	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tccgcctgtgggacacatatCaggtaggagggattccccgg	14	11	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:37284604C>T	ENST00000373491.3	+	11	1437	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	431	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GGACACATATCAGGTAGGAGG	0.557																																																	0													103	99	100					6																	37284604		2203	4300	6503	SO:0001587	stop_gained	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1291C>T	6.37:g.37284604C>T	ENSP00000362590:p.Gln431*		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q431*	ENST00000373491.3	37	c.1291	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.322495	0.98210	.	.	ENSG00000065491	ENST00000373491	.	.	.	5.87	5.87	0.94306	.	0.122372	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.996	0.92813	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	ENSP00000362590:Q431X	Q	+	1	0	TBC1D22B	37392582	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	CAG	TBC1D22B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.557	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	C	NM_017772		37284604	1	no_errors	ENST00000373491	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	37284604	C	T	37284604	4	4	32	1	0	0	0	0	0	1	0	0	15642	827	29	1	1333	1	TBC1D22B	6	37284604	Nonsense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	12423349	37284604	133830463	73	4338										
MOCS1	4337	genome.wustl.edu	37	chr6	39881113	39881113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tccagggggaggccctcagtCaaggccgcaaagtccaggag	15	12	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:39881113C>G	ENST00000340692.5	-	6	708	c.705G>C	c.(703-705)ttG>ttC	p.L235F	MOCS1_ENST00000373188.2_Missense_Mutation_p.L235F|MOCS1_ENST00000373175.4_Missense_Mutation_p.L206F|MOCS1_ENST00000373195.3_Missense_Mutation_p.L148F|MOCS1_ENST00000432280.2_Missense_Mutation_p.L206F|MOCS1_ENST00000373186.4_Missense_Mutation_p.L235F|MOCS1_ENST00000425303.2_Missense_Mutation_p.L235F|MOCS1_ENST00000308559.7_Missense_Mutation_p.L235F			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	235	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCCCTCAGTCAAGGCCGCAA	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													110	96	100					6																	39881113		2203	4300	6503	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.705G>C	6.37:g.39881113C>G	ENSP00000344794:p.Leu235Phe		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.L235F	ENST00000340692.5	37	c.705		6	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757183	0.15846	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.68	0.339	0.15979	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.077696	0.49916	D	0.000128	T	0.12689	0.0308	N	0.15975	0.35	0.42401	D	0.992563	B;B;B;B;B	0.24576	0.106;0.018;0.051;0.041;0.01	B;B;B;B;B	0.33254	0.16;0.046;0.12;0.106;0.045	T	0.06006	-1.0851	9	.	.	.	-4.5904	1.788	0.03046	0.2043:0.4079:0.2132:0.1745	.	235;235;235;235;235	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	F	235;235;206;235;148;235;235;206	ENSP00000362282:L235F;ENSP00000309843:L235F;ENSP00000362270:L206F;ENSP00000362284:L235F;ENSP00000362291:L148F;ENSP00000344794:L235F;ENSP00000416478:L235F;ENSP00000410809:L206F	.	L	-	3	2	MOCS1	39989091	1.000000	0.71417	0.882000	0.34594	0.207000	0.24258	1.818000	0.39012	0.087000	0.17167	-0.961000	0.02630	TTG	MOCS1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA		0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	C	NM_005943		39881113	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	0.994	G	G	39881113	C	G	39881113	3	3	32	1	0	0	0	0	1	0	0	0	9713	825	29	1	472	1	MOCS1	6	39881113	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2596509	39881113	131233954	74	4339										
DST	667	genome.wustl.edu	37	chr6	56323951	56323951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tttccacatctgagcacacgGactggatttctgaaatgtca	8	10	3	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:56323951G>A	ENST00000361203.3	-	98	22245	c.22238C>T	c.(22237-22239)tCc>tTc	p.S7413F	DST_ENST00000370788.2_Missense_Mutation_p.S5327F|DST_ENST00000370769.4_Missense_Mutation_p.S7524F|DST_ENST00000370754.5_Missense_Mutation_p.S7702F|DST_ENST00000446842.2_Missense_Mutation_p.S7198F|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S5123F|DST_ENST00000421834.2_Missense_Mutation_p.S5409F			Q03001	DYST_HUMAN	dystonin	7522					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGCACACGGACTGGATTTC	0.587																																																	0													69	72	71					6																	56323951		2016	4185	6201	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22238C>T	6.37:g.56323951G>A	ENSP00000354508:p.Ser7413Phe		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S7702F	ENST00000361203.3	37	c.23105		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260585|3.260585	0.59431|0.59431	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.72167	.|-0.3;-0.6;-0.63;-0.5;0.31;-0.54;-0.45	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.52532	.|D	.|0.000078	D|D	0.84170|0.84170	0.5413|0.5413	M|M	0.81341|0.81341	2.54|2.54	.|.	.|.	.|.	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.997;1.0;0.999;0.997;0.999;0.998;0.999;0.999	.|D;D;D;D;D;D;D;D	.|0.87578	.|0.916;0.998;0.996;0.916;0.979;0.993;0.998;0.959	D|D	0.84350|0.84350	0.0532|0.0532	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5409;7524;7702;7522;5123;210;210;5327	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	S|F	211|5123;7702;7524;5409;7198;5327;7413	.|ENSP00000244364:S5123F;ENSP00000359790:S7702F;ENSP00000359805:S7524F;ENSP00000400883:S5409F;ENSP00000393645:S7198F;ENSP00000359824:S5327F;ENSP00000354508:S7413F	.|ENSP00000244364:S5123F	P|S	-|-	1|2	0|0	DST|DST	56431910|56431910	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CCG|TCC	DST	-	NULL		0.587	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56323951	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56323951	G	A	56323951	3	1	32	1	0	0	0	0	1	0	0	0	4793	1174	41	1	151	1	DST	6	56323951	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	16442838	56323951	114791116	75	4340										
IRAK1BP1	134728	genome.wustl.edu	37	chr6	79607603	79607603	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atatttgtaactttcttgttGaaaagctagatagctctgtt	7	5	2	2	rs553090725		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:79607603G>A	ENST00000369940.2	+	3	544	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.E60K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	147					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CTTTCTTGTTGAAAAGCTAGA	0.348													G|||	1	0.000199681	0	0	5008	,	,		17197	0		0	False		,,,				2504	0.001																0													119	115	116					6																	79607603		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.439G>A	6.37:g.79607603G>A	ENSP00000358956:p.Glu147Lys			Missense_Mutation	SNP	pfam_DUF541	p.E147K	ENST00000369940.2	37	c.439	CCDS34488.1	6	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745328	0.89663	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.78049	2.395	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.76520	-0.2929	8	.	.	.	-12.5761	17.9231	0.88973	0.0:0.0:1.0:0.0	.	147	Q5VVH5	IKBP1_HUMAN	K	147	.	.	E	+	1	0	IRAK1BP1	79664322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.066000	0.76734	2.566000	0.86566	0.655000	0.94253	GAA	IRAK1BP1	-	pfam_DUF541		0.348	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	G	XM_059729		79607603	1	no_errors	ENST00000369940	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79607603	G	A	79607603	3	1	32	1	0	0	0	0	1	0	0	0	7842	1291	45	1	449	1	IRAK1BP1	6	79607603	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	23283652	79607603	91507464	76	4341										
SNAP91	9892	genome.wustl.edu	37	chr6	84317460	84317460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cagttgcaaataaatcaaccGgtggggatgtgtcaatagtt	11	6	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:84317460G>A	ENST00000439399.2	-	13	1296	c.980C>T	c.(979-981)cCg>cTg	p.P327L	SNAP91_ENST00000520213.1_Missense_Mutation_p.P311L|SNAP91_ENST00000520302.1_Missense_Mutation_p.P325L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P327L|SNAP91_ENST00000195649.6_Missense_Mutation_p.P327L|SNAP91_ENST00000369694.2_Missense_Mutation_p.P327L|SNAP91_ENST00000428679.2_Missense_Mutation_p.P327L|SNAP91_ENST00000437520.1_Missense_Mutation_p.P311L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P327L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	327					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TAAATCAACCGGTGGGGATGT	0.388																																																	0													75	73	74					6																	84317460		1890	4108	5998	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.980C>T	6.37:g.84317460G>A	ENSP00000400459:p.Pro327Leu		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P327L	ENST00000439399.2	37	c.980	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051610	0.75960	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000447888	T;T;T;T;T;T;T;T;T;T	0.39997	2.37;2.38;2.38;2.37;2.34;1.05;2.36;2.38;1.05;1.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.57536	1.79	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.222	D;D;D;B	0.79108	0.992;0.988;0.988;0.056	T	0.54918	-0.8221	10	0.59425	D	0.04	-3.0915	20.2738	0.98482	0.0:0.0:1.0:0.0	.	311;325;327;325	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	L	327;327;327;327;327;311;325;327;311;325;53	ENSP00000429776:P327L;ENSP00000358708:P327L;ENSP00000400459:P327L;ENSP00000195649:P327L;ENSP00000412492:P327L;ENSP00000413277:P311L;ENSP00000428511:P325L;ENSP00000428215:P327L;ENSP00000428026:P311L;ENSP00000430071:P325L	ENSP00000195649:P327L	P	-	2	0	SNAP91	84374179	1.000000	0.71417	0.894000	0.35097	0.995000	0.86356	5.456000	0.66665	2.894000	0.99253	0.655000	0.94253	CCG	SNAP91	-	NULL		0.388	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	G			84317460	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	0.997	A	A	84317460	G	A	84317460	3	1	32	1	0	0	0	0	1	0	0	0	14863	1116	39	2	1811	2	SNAP91	6	84317460	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	4709857	84317460	86797607	77	4342										
NT5E	4907	genome.wustl.edu	37	chr6	86176858	86176858	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gaggccaaatttccaattctGagtgcaaacattaaagcaaa	7	8	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:86176858G>A	ENST00000257770.3	+	2	469	c.420G>A	c.(418-420)ctG>ctA	p.L140L	NT5E_ENST00000369651.3_Silent_p.L140L|NT5E_ENST00000369646.3_Silent_p.L140L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	140					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTCCAATTCTGAGTGCAAACA	0.408																																					Melanoma(140;797 1765 2035 2752 18208)												0													119	111	114					6																	86176858		2203	4300	6503	SO:0001819	synonymous_variant	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.420G>A	6.37:g.86176858G>A			B3KQI8|O75520|Q5W116	Silent	SNP	pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.L140	ENST00000257770.3	37	c.420	CCDS5002.1	6																																																																																			NT5E	-	pfam_Metallo_PEstase_dom		0.408	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	HGNC	protein_coding	OTTHUMT00000041388.1	G			86176858	1	no_errors	ENST00000257770	ensembl	human	known	70_37	silent	SNP	1.000	A	A	86176858	G	A	86176858	2	1	32	1	0	0	0	0	0	0	0	1	10717	1277	45	1		1	NT5E	6	86176858	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1859398	86176858	84938209	78	4343										
SFRS13B	135295	genome.wustl.edu	37	chr6	89808550	89808550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aggacttggaccttgaccgtCctctagagccaaaattcctt	8	12	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:89808550C>T	ENST00000452027.2	-	5	726	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	178	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CCTTGACCGTCCTCTAGAGCC	0.428																																																	0													353	331	338					6																	89808550		1892	4113	6005	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.533G>A	6.37:g.89808550C>T	ENSP00000414302:p.Gly178Glu		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G178E	ENST00000452027.2	37	c.533	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881332	0.33255	.	.	ENSG00000154548	ENST00000452027	T	0.07688	3.17	5.13	4.24	0.50183	.	0.124177	0.37053	N	0.002274	T	0.02455	0.0075	L	0.40543	1.245	0.37070	D	0.8985	B	0.26935	0.164	B	0.27608	0.081	T	0.12016	-1.0564	10	0.02654	T	1	.	13.164	0.59560	0.0:0.919:0.0:0.0809	.	178	Q8WXF0	SRS12_HUMAN	E	178	ENSP00000414302:G178E	ENSP00000414302:G178E	G	-	2	0	SRSF12	89865269	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.184000	0.32053	2.667000	0.90743	0.591000	0.81541	GGA	SRSF12	-	NULL		0.428	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	C	NM_080743		89808550	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89808550	C	T	89808550	3	4	32	1	0	0	0	0	1	0	0	0	14199	855	30	1	256	1	SFRS13B	6	89808550	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	3631692	89808550	81306517	79	4344										
AMD1	262	genome.wustl.edu	37	chr6	111208743	111208743	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	acttttgaaggatgtgcaatGttcaatcataagtgtgacaa	9	5	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:111208743G>C	ENST00000368885.3	+	2	482	c.146G>C	c.(145-147)tGt>tCt	p.C49S	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_5'UTR	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	49					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GATGTGCAATGTTCAATCATA	0.343																																																	0													183	177	179					6																	111208743		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.146G>C	6.37:g.111208743G>C	ENSP00000357880:p.Cys49Ser		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.C49S	ENST00000368885.3	37	c.146	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302248	0.81136	.	.	ENSG00000123505	ENST00000368885	.	.	.	5.46	4.58	0.56647	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89217	0.3568	9	0.72032	D	0.01	.	15.8608	0.79019	0.0:0.0:0.8632:0.1368	.	49	P17707	DCAM_HUMAN	S	49	.	ENSP00000357880:C49S	C	+	2	0	AMD1	111315436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.307000	0.96226	1.413000	0.46997	0.591000	0.81541	TGT	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.343	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111208743	1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111208743	G	C	111208743	3	2	32	1	0	0	0	0	1	0	0	0	566	1377	48	4	152	4	AMD1	6	111208743	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	21400193	111208743	59906324	80	4345										
LAMA2	3908	genome.wustl.edu	37	chr6	129807751	129807751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gaagagaacattccgttcatGtagagcgaactagagggtaa	12	6	1	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:129807751G>T	ENST00000421865.2	+	56	7931	c.7882G>T	c.(7882-7884)Gta>Tta	p.V2628L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2628	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCCGTTCATGTAGAGCGAAC	0.418																																																	0													109	90	97					6																	129807751		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7882G>T	6.37:g.129807751G>T	ENSP00000400365:p.Val2628Leu		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.V2628L	ENST00000421865.2	37	c.7882	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954282	0.00470	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.80304	-1.36	5.44	2.5	0.30297	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.228535	0.44483	D	0.000454	T	0.33990	0.0882	N	0.05351	-0.065	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.01	T	0.25398	-1.0133	9	.	.	.	.	4.3439	0.11124	0.297:0.3048:0.3982:0.0	.	2629;2628	A6NF00;P24043	.;LAMA2_HUMAN	L	2628;2627;2628;646	ENSP00000400365:V2628L	.	V	+	1	0	LAMA2	129849444	0.943000	0.32029	0.011000	0.14972	0.257000	0.26127	1.757000	0.38400	0.776000	0.33473	0.591000	0.81541	GTA	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129807751	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.020	T	T	129807751	G	T	129807751	3	4	32	1	0	0	0	0	1	0	0	0	8626	1377	48	4	8104	4	LAMA2	6	129807751	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	18599008	129807751	41307316	81	4346										
FBXO30	84085	genome.wustl.edu	37	chr6	146125682	146125682	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aagcctgcaatatgctgcagGacctcaaaaggaagactact	9	10	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:146125682G>T	ENST00000237281.4	-	2	2026	c.1860C>A	c.(1858-1860)gtC>gtA	p.V620V		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	620							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TATGCTGCAGGACCTCAAAAG	0.453																																																	0													118	105	109					6																	146125682		2203	4300	6503	SO:0001819	synonymous_variant	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1860C>A	6.37:g.146125682G>T			Q9BXZ7	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.V620	ENST00000237281.4	37	c.1860	CCDS5208.1	6																																																																																			FBXO30	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.453	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	G			146125682	-1	no_errors	ENST00000237281	ensembl	human	known	70_37	silent	SNP	0.880	T	T	146125682	G	T	146125682	2	4	32	1	0	0	0	0	0	0	0	1	5758	1161	41	3		3	FBXO30	6	146125682	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	16317931	146125682	24989385	82	4347										
CCDC129	223075	genome.wustl.edu	37	chr7	31692144	31692144	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccttttagcagctggaggttCtcacagcagagccacctgaa	10	12	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:31692144C>T	ENST00000407970.3	+	14	2874	c.2836C>T	c.(2836-2838)Ctc>Ttc	p.L946F	CCDC129_ENST00000451887.2_Missense_Mutation_p.L972F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L854F|CCDC129_ENST00000319386.3_Missense_Mutation_p.L798F	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	946										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCTGGAGGTTCTCACAGCAGA	0.418																																																	0													32	29	30					7																	31692144		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2836C>T	7.37:g.31692144C>T	ENSP00000384416:p.Leu946Phe		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.L972F	ENST00000407970.3	37	c.2914	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928416	0.52759	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.26223	1.75;2.05;2.0;1.78	4.6	3.71	0.42584	.	0.380111	0.19465	N	0.113620	T	0.46639	0.1403	M	0.69823	2.125	0.09310	N	1	D;B;B;D	0.89917	1.0;0.385;0.385;1.0	D;B;B;D	0.79108	0.992;0.208;0.208;0.984	T	0.25328	-1.0135	10	0.72032	D	0.01	-6.3662	9.4505	0.38723	0.0:0.8981:0.0:0.1019	.	972;956;946;798	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	F	798;946;972;956;854	ENSP00000313062:L798F;ENSP00000384416:L946F;ENSP00000395835:L972F;ENSP00000387214:L854F	ENSP00000313062:L798F	L	+	1	0	CCDC129	31658669	0.033000	0.19621	0.006000	0.13384	0.343000	0.28985	1.411000	0.34702	1.247000	0.43917	-0.291000	0.09656	CTC	CCDC129	-	NULL		0.418	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	C	NM_194300		31692144	1	no_errors	ENST00000451887	ensembl	human	known	70_37	missense	SNP	0.017	T	T	31692144	C	T	31692144	3	4	32	1	0	0	0	0	1	0	0	0	2769	913	32	1	2886	1	CCDC129	7	31692144	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		31692144	127446519	83	4348										
ABCA13	154664	genome.wustl.edu	37	chr7	48634405	48634405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtgctgcggtgctgacctccCacaggtgagttccagtttct	12	12	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:48634405C>A	ENST00000435803.1	+	58	14764	c.14740C>A	c.(14740-14742)Cac>Aac	p.H4914N	ABCA13_ENST00000544596.1_Missense_Mutation_p.H644N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4914	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTGACCTCCCACAGGTGAGT	0.502																																																	0													117	124	122					7																	48634405		2019	4189	6208	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14740C>A	7.37:g.48634405C>A	ENSP00000411096:p.His4914Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H4914N	ENST00000435803.1	37	c.14740	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.99607	-6.27;-6.27;-6.27	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.51477	D	0.000085	D	0.99732	0.9895	M	0.94101	3.495	0.47547	D	0.999453	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.989	D	0.97517	1.0070	10	0.87932	D	0	.	17.3203	0.87234	0.0:1.0:0.0:0.0	.	644;2616;4914	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	N	4914;687;644	ENSP00000411096:H4914N;ENSP00000391042:H687N;ENSP00000442634:H644N	ENSP00000391042:H687N	H	+	1	0	ABCA13	48604951	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.607000	0.74163	2.672000	0.90937	0.563000	0.77884	CAC	ABCA13	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.502	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48634405	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48634405	C	A	48634405	3	1	32	1	0	0	0	0	1	0	0	0	31	594	21	4	14799	4	ABCA13	7	48634405	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	16942261	48634405	110504258	84	4349										
DDC	1644	genome.wustl.edu	37	chr7	50596916	50596916	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	acacactcacctgatcggatGagtaagccaccagcttctcc	7	15	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:50596916G>A	ENST00000444124.2	-	5	760	c.560C>T	c.(559-561)tCa>tTa	p.S187L	DDC_ENST00000380984.4_Missense_Mutation_p.S187L|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.S187L|DDC_ENST00000426377.1_Missense_Mutation_p.S109L|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	187					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CTGATCGGATGAGTAAGCCAC	0.537																																																	0													88	82	84					7																	50596916		2203	4300	6503	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.560C>T	7.37:g.50596916G>A	ENSP00000403644:p.Ser187Leu		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.S187L	ENST00000444124.2	37	c.560	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	G	9.630	1.136165	0.21123	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.95	3.14	0.36123	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.002100	0.08041	N	0.995133	T	0.48314	0.1493	L	0.49126	1.545	0.09310	N	1	B	0.26845	0.161	P	0.45829	0.494	T	0.56378	-0.7989	10	0.87932	D	0	-11.0193	9.4991	0.39006	0.0798:0.1438:0.7764:0.0	.	187	P20711	DDC_HUMAN	L	187;109;187;187	ENSP00000350616:S187L;ENSP00000395069:S109L;ENSP00000403644:S187L;ENSP00000370371:S187L	ENSP00000350616:S187L	S	-	2	0	DDC	50564410	0.932000	0.31603	0.008000	0.14137	0.131000	0.20780	5.474000	0.66781	0.668000	0.31126	0.655000	0.94253	TCA	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.537	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	G			50596916	-1	no_errors	ENST00000357936	ensembl	human	known	70_37	missense	SNP	0.019	A	A	50596916	G	A	50596916	3	1	32	1	0	0	0	0	1	0	0	0	4330	1294	45	1	922	1	DDC	7	50596916	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1962511	50596916	108541747	85	4350										
NCF1	653361	genome.wustl.edu	37	chr7	74203029	74203029	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	caggcgcggccgggaccgcaGagccccgggagcccgctcgg	18	17	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:74203029G>A	ENST00000289473.4	+	10	1102	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	344	Arg/Lys-rich (highly basic).				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CGGGACCGCAGAGCCCCGGGA	0.726																																																	0													2	2	2					7																	74203029		1179	2383	3562	SO:0001819	synonymous_variant	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.1032G>A	7.37:g.74203029G>A			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain	p.Q344	ENST00000289473.4	37	c.1032	CCDS34657.1	7																																																																																			NCF1	-	pfam_NADPH_oxidase_p47Phox_C		0.726	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	HGNC	protein_coding	OTTHUMT00000314560.1	G	NM_000265		74203029	1	no_errors	ENST00000289473	ensembl	human	known	70_37	silent	SNP	0.010	A	A	74203029	G	A	74203029	2	1	32	1	0	0	0	0	0	0	0	1	10240	933	33	1		1	NCF1	7	74203029	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	23606113	74203029	84935634	86	4351										
CD36	948	genome.wustl.edu	37	chr7	80302689	80302689	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agagtattaaagaatctgaaGaggaactatattgtgcctat	9	4	1	4			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:80302689G>T	ENST00000435819.1	+	16	1902	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	CD36_ENST00000544133.1_3'UTR|CD36_ENST00000394788.3_Missense_Mutation_p.K406N|CD36_ENST00000433696.2_Missense_Mutation_p.K367N|CD36_ENST00000447544.2_Missense_Mutation_p.K406N|CD36_ENST00000534394.1_Missense_Mutation_p.K330N|CD36_ENST00000432207.1_Missense_Mutation_p.K406N|CD36_ENST00000309881.7_Missense_Mutation_p.K406N|CD36_ENST00000538969.1_Missense_Mutation_p.K346N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	406					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGAATCTGAAGAGGAACTATA	0.249																																																	0													69	72	71					7																	80302689		2202	4271	6473	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1218G>T	7.37:g.80302689G>T	ENSP00000399421:p.Lys406Asn		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.K406N	ENST00000435819.1	37	c.1218	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734928	0.30774	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.83	-0.116	0.13555	.	0.320334	0.35970	N	0.002865	T	0.61223	0.2330	M	0.71581	2.175	0.23893	N	0.996549	B	0.24618	0.107	B	0.30716	0.119	T	0.50381	-0.8835	9	.	.	.	-9.2355	1.3805	0.02229	0.3128:0.135:0.3942:0.158	.	406	P16671	CD36_HUMAN	N	406;406;330;406;406;406;406;346;367	ENSP00000399421:K406N;ENSP00000308165:K406N;ENSP00000431296:K330N;ENSP00000378268:K406N;ENSP00000415743:K406N;ENSP00000411411:K406N;ENSP00000392298:K406N;ENSP00000439543:K346N;ENSP00000401863:K367N	.	K	+	3	2	CD36	80140625	0.766000	0.28496	0.007000	0.13788	0.163000	0.22366	1.007000	0.29860	0.045000	0.15804	0.655000	0.94253	AAG	CD36	-	pfam_CD36,prints_CD36_antigen		0.249	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	G	NM_001001547		80302689	1	no_errors	ENST00000309881	ensembl	human	known	70_37	missense	SNP	0.019	T	T	80302689	G	T	80302689	3	4	32	1	0	0	0	0	1	0	0	0	3012	933	33	3	1260	3	CD36	7	80302689	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	6099660	80302689	78835974	87	4352										
C7orf59	389541	genome.wustl.edu	37	chr7	99747167	99747167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agcgaatcccagaccagctcGgctacctggtactgagtgaa	11	12	0	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:99747167G>C	ENST00000341942.5	+	2	115	c.49G>C	c.(49-51)Ggc>Cgc	p.G17R	LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000441173.1_Missense_Mutation_p.G17R	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	17					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											AGACCAGCTCGGCTACCTGGT	0.587																																																	0													141	138	139					7																	99747167		2203	4300	6503	SO:0001583	missense	389541				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 59"	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.49G>C	7.37:g.99747167G>C	ENSP00000343118:p.Gly17Arg			Missense_Mutation	SNP	NULL	p.G17R	ENST00000341942.5	37	c.49	CCDS34702.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203347	0.79127	.	.	ENSG00000188186	ENST00000341942;ENST00000441173	T;T	0.31247	1.5;2.79	5.33	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	.	.	.	0.35217	D	0.77569	D	0.89917	1.0	D	0.97110	1.0	T	0.61048	-0.7141	9	0.87932	D	0	-19.1929	6.9727	0.24658	0.0889:0.0:0.7396:0.1715	.	17	Q0VGL1	CG059_HUMAN	R	17	ENSP00000343118:G17R;ENSP00000387926:G17R	ENSP00000343118:G17R	G	+	1	0	C7orf59	99585103	1.000000	0.71417	0.522000	0.27862	0.967000	0.64934	6.537000	0.73847	0.665000	0.31066	-0.288000	0.09946	GGC	LAMTOR4	-	NULL		0.587	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR4	HGNC	protein_coding	OTTHUMT00000337373.2	G	NM_001008395		99747167	1	no_errors	ENST00000341942	ensembl	human	known	70_37	missense	SNP	0.801	C	C	99747167	G	C	99747167	3	2	32	1	0	0	0	0	1	0	0	0	2411	1116	39	2	55	2	C7orf59	7	99747167	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	19444478	99747167	59391496	88	4353										
ASB15	142685	genome.wustl.edu	37	chr7	123264786	123264786	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	catggaggcaatgtccacctGagagatggatttggagtcac	13	8	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:123264786G>A	ENST00000451558.1	+	10	1136	c.615G>A	c.(613-615)ctG>ctA	p.L205L	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Silent_p.L205L|ASB15_ENST00000451215.1_Silent_p.L205L|RP11-390E23.3_ENST00000451016.1_RNA|RP11-390E23.3_ENST00000429396.1_RNA|ASB15_ENST00000540573.1_Silent_p.L205L|ASB15_ENST00000275699.3_Silent_p.L205L|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	205					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGTCCACCTGAGAGATGGAT	0.493											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													172	129	143					7																	123264786		2203	4300	6503	SO:0001819	synonymous_variant	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.615G>A	7.37:g.123264786G>A		1525	Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L205	ENST00000451558.1	37	c.615	CCDS34742.1	7																																																																																			ASB15	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.493	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	G			123264786	1	no_errors	ENST00000275699	ensembl	human	known	70_37	silent	SNP	0.885	A	A	123264786	G	A	123264786	2	1	32	1	0	0	0	0	0	0	0	1	1020	1277	45	1		1	ASB15	7	123264786	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	23517619	123264786	35873877	89	4354										
FDFT1	2222	genome.wustl.edu	37	chr8	11696000	11696000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	caactgtcagctgatttcccGaagccactactcccccatct	5	17	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:11696000G>A	ENST00000220584.4	+	8	1358	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	FDFT1_ENST00000538689.1_Missense_Mutation_p.R268Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.R294Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R372Q|FDFT1_ENST00000443614.2_Missense_Mutation_p.R336Q|FDFT1_ENST00000525777.1_Missense_Mutation_p.R294Q|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528812.1_Missense_Mutation_p.R315Q|FDFT1_ENST00000530664.1_Missense_Mutation_p.R315Q	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	379					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CTGATTTCCCGAAGCCACTAC	0.507																																																	0													149	117	128					8																	11696000		2203	4300	6503	SO:0001583	missense	2222			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.1136G>A	8.37:g.11696000G>A	ENSP00000220584:p.Arg379Gln		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.R379Q	ENST00000220584.4	37	c.1136	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053426	0.75960	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.45276	0.9;1.48;1.48;1.47;0.91;0.91;0.91;0.91	5.46	5.46	0.80206	.	0.127299	0.52532	D	0.000063	T	0.25419	0.0618	N	0.19112	0.55	0.80722	D	1	B;P;P;B;B	0.46277	0.342;0.605;0.875;0.349;0.349	B;B;B;B;B	0.26614	0.016;0.036;0.071;0.023;0.023	T	0.17410	-1.0370	10	0.52906	T	0.07	-19.7638	18.4678	0.90762	0.0:0.0:1.0:0.0	.	212;336;436;372;379	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	Q	268;379;336;372;315;315;294;294	ENSP00000444248:R268Q;ENSP00000220584:R379Q;ENSP00000390367:R336Q;ENSP00000434714:R372Q;ENSP00000431749:R315Q;ENSP00000432331:R315Q;ENSP00000431649:R294Q;ENSP00000436069:R294Q	ENSP00000220584:R379Q	R	+	2	0	FDFT1	11733409	1.000000	0.71417	0.915000	0.36163	0.862000	0.49288	6.591000	0.74090	2.847000	0.97988	0.591000	0.81541	CGA	FDFT1	-	NULL		0.507	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	G			11696000	1	no_errors	ENST00000220584	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11696000	G	A	11696000	3	1	32	1	0	0	0	0	1	0	0	0	5820	1058	37	1	1166	1	FDFT1	8	11696000	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		11696000	134668022	90	4355										
DLC1	10395	genome.wustl.edu	37	chr8	12958088	12958088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gaagacacctcctggcgctcGctgaggtccatcagcgtgcc	12	15	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:12958088G>A	ENST00000276297.4	-	9	2167	c.1758C>T	c.(1756-1758)agC>agT	p.S586S	DLC1_ENST00000512044.2_Silent_p.S183S|DLC1_ENST00000358919.2_Silent_p.S149S|DLC1_ENST00000520226.1_Silent_p.S75S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	586					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTGGCGCTCGCTGAGGTCCA	0.667																																																	0													35	40	39					8																	12958088		2203	4299	6502	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1758C>T	8.37:g.12958088G>A			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.S586	ENST00000276297.4	37	c.1758	CCDS5989.1	8																																																																																			DLC1	-	NULL		0.667	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12958088	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.975	A	A	12958088	G	A	12958088	2	1	32	1	0	0	0	0	0	0	0	1	4560	1078	38	2		2	DLC1	8	12958088	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1262088	12958088	133405934	91	4356										
PPP3CC	5533	genome.wustl.edu	37	chr8	22398215	22398215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	taatgagcgaatgccaccccGaaaggatagcatacacgctg	10	11	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:22398215G>A	ENST00000240139.5	+	14	1766	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000289963.8_Missense_Mutation_p.R470Q|PPP3CC_ENST00000397775.3_Missense_Mutation_p.R489Q	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	480					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		ATGCCACCCCGAAAGGATAGC	0.512																																																	0													97	95	96					8																	22398215		2203	4300	6503	SO:0001583	missense	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1439G>A	8.37:g.22398215G>A	ENSP00000240139:p.Arg480Gln		B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.R480Q	ENST00000240139.5	37	c.1439	CCDS34859.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.300273	0.95574	.	.	ENSG00000120910	ENST00000240139;ENST00000289963;ENST00000397775	T;T;T	0.15603	2.42;2.5;2.41	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.32530	0.975	0.80722	D	1	D;D;D	0.57571	0.966;0.98;0.966	P;P;P	0.48873	0.579;0.593;0.579	T	0.00501	-1.1702	10	0.48119	T	0.1	-8.1231	18.0311	0.89285	0.0:0.0:1.0:0.0	.	489;470;480	B4DRT5;P48454-2;P48454	.;.;PP2BC_HUMAN	Q	480;470;489	ENSP00000240139:R480Q;ENSP00000289963:R470Q;ENSP00000380878:R489Q	ENSP00000240139:R480Q	R	+	2	0	PPP3CC	22454160	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	9.619000	0.98369	2.543000	0.85770	0.655000	0.94253	CGA	PPP3CC	-	NULL		0.512	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	G	NM_005605		22398215	1	no_errors	ENST00000240139	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22398215	G	A	22398215	3	1	32	1	0	0	0	0	1	0	0	0	12426	1058	37	1	1493	1	PPP3CC	8	22398215	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	9440127	22398215	123965807	92	4357										
BIN3	55909	genome.wustl.edu	37	chr8	22478974	22478974	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gagagggcccggagctcactGagtttggcctcgttctcccg	14	13	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:22478974G>A	ENST00000276416.6	-	9	791	c.723C>T	c.(721-723)ctC>ctT	p.L241L	BIN3_ENST00000399977.4_Silent_p.L193L|CCAR2_ENST00000308511.4_3'UTR|BIN3_ENST00000519513.1_Silent_p.L187L|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	241					actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGAGCTCACTGAGTTTGGCCT	0.577																																																	0													72	82	79					8																	22478974		2117	4224	6341	SO:0001819	synonymous_variant	55909				CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.723C>T	8.37:g.22478974G>A			Q9BVG2|Q9NVY9	Silent	SNP	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.L241	ENST00000276416.6	37	c.723	CCDS47825.1	8																																																																																			BIN3	-	NULL		0.577	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375895.1	G			22478974	-1	no_errors	ENST00000276416	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22478974	G	A	22478974	2	1	32	1	0	0	0	0	0	0	0	1	1435	1277	45	1		1	BIN3	8	22478974	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	80759	22478974	123885048	93	4358										
NEFM	4741	genome.wustl.edu	37	chr8	24774881	24774881	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aacccgaagctgaagaagaaGaagtagctgccaaaaagtct	10	8	1	4			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:24774881G>C	ENST00000221166.5	+	3	2295	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E505Q|NEFM_ENST00000518131.1_Missense_Mutation_p.E505Q|NEFM_ENST00000433454.2_Missense_Mutation_p.E129Q			P07197	NFM_HUMAN	neurofilament, medium polypeptide	505	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tgaagaagaagaagTAGCTGC	0.478																																																	0													39	43	41					8																	24774881		2203	4299	6502	SO:0001583	missense	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1513G>C	8.37:g.24774881G>C	ENSP00000221166:p.Glu505Gln		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E505Q	ENST00000221166.5	37	c.1513	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.433011	0.01108	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94793	-1.88;-1.76;-1.79;-3.52	4.16	1.87	0.25490	.	0.914021	0.08828	U	0.887769	D	0.85252	0.5654	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.06405	0.001;0.002	T	0.74225	-0.3734	10	0.23891	T	0.37	.	6.3689	0.21471	0.4369:0.0:0.5631:0.0	.	505;505	E7EMV2;P07197	.;NFM_HUMAN	Q	505;505;505;129	ENSP00000221166:E505Q;ENSP00000427872:E505Q;ENSP00000410137:E505Q;ENSP00000412295:E129Q	ENSP00000221166:E505Q	E	+	1	0	NEFM	24830786	0.656000	0.27385	0.732000	0.30844	0.321000	0.28281	1.312000	0.33574	0.868000	0.35678	0.467000	0.42956	GAA	NEFM	-	NULL		0.478	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	G	NM_005382		24774881	1	no_errors	ENST00000221166	ensembl	human	known	70_37	missense	SNP	0.130	C	C	24774881	G	C	24774881	3	2	32	1	0	0	0	0	1	0	0	0	10340	943	33	1	1523	1	NEFM	8	24774881	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	2295907	24774881	121589141	94	4359										
RAD21	5885	genome.wustl.edu	37	chr8	117875499	117875499	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtccgtaatgccattttcacCtatgaataaaacattaatca	4	9	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:117875499C>T	ENST00000297338.2	-	3	432		c.e3-1		RAD21_ENST00000523547.1_Splice_Site	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCATTTTCACCTATGAATAAA	0.353																																																	0													127	124	125					8																	117875499		2203	4300	6503	SO:0001630	splice_region_variant	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.145-1G>A	8.37:g.117875499C>T			A8K0E0|Q15001|Q99568	Splice_Site	SNP	-	e2-1	ENST00000297338.2	37	c.145-1	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407458	0.83230	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4192	0.94713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAD21	117944680	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	7.757000	0.85209	2.586000	0.87340	0.650000	0.86243	.	RAD21	-	-		0.353	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	C	NM_006265	Intron	117875499	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	117875499	C	T	117875499	5	4	32	1	0	0	0	0	0	0	1	0	13011	695	24	4	1799	4	RAD21	8	117875499	Splice_Site	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	93100618	117875499	28488523	95	4360										
KCNK9	51305	genome.wustl.edu	37	chr8	140631202	140631202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gccacagcacttcttaatgcGcttcagcaggtagcgcacga	10	13	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:140631202G>A	ENST00000520439.1	-	2	487	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.R142C	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	142					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TTCTTAATGCGCTTCAGCAGG	0.582																																																	0													119	92	101					8																	140631202		2203	4300	6503	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.424C>T	8.37:g.140631202G>A	ENSP00000430676:p.Arg142Cys		Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.R142C	ENST00000520439.1	37	c.424	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280454	0.59758	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.31769	1.48;1.48;1.48	5.85	3.86	0.44501	.	0.119612	0.56097	D	0.000030	T	0.49626	0.1568	M	0.62723	1.935	0.54753	D	0.999989	D	0.89917	1.0	D	0.65140	0.932	T	0.51888	-0.8648	10	0.48119	T	0.1	.	14.8181	0.70050	0.0:0.0:0.6481:0.3519	.	142	Q9NPC2	KCNK9_HUMAN	C	142	ENSP00000429847:R142C;ENSP00000302166:R142C;ENSP00000430676:R142C	ENSP00000302166:R142C	R	-	1	0	KCNK9	140700384	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.536000	0.67180	1.449000	0.47699	0.655000	0.94253	CGC	KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK		0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140631202	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140631202	G	A	140631202	3	1	32	1	0	0	0	0	1	0	0	0	8092	1087	38	2	704	2	KCNK9	8	140631202	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	22755703	140631202	5732820	96	4361										
DMRT1	1761	genome.wustl.edu	37	chr9	894052	894052	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cttattacaacaatctatacAactgcccgcagtactccatg	4	13	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:894052A>T	ENST00000382276.3	+	3	828	c.679A>T	c.(679-681)Aac>Tac	p.N227Y	DMRT1_ENST00000569227.1_Missense_Mutation_p.N69Y	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	227					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CAATCTATACAACTGCCCGCA	0.547											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114	100	104					9																	894052		2203	4300	6503	SO:0001583	missense	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.679A>T	9.37:g.894052A>T	ENSP00000371711:p.Asn227Tyr	591	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.N227Y	ENST00000382276.3	37	c.679	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289479	0.80914	.	.	ENSG00000137090	ENST00000382276	T	0.24538	1.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.88450	2.955	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.984	T	0.67304	-0.5704	10	0.87932	D	0	.	16.3996	0.83635	1.0:0.0:0.0:0.0	.	227;227	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	Y	227	ENSP00000371711:N227Y	ENSP00000371711:N227Y	N	+	1	0	DMRT1	884052	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.655000	0.74392	2.275000	0.75901	0.529000	0.55759	AAC	DMRT1	-	NULL		0.547	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	A	NM_021951		894052	1	no_errors	ENST00000382276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	894052	A	T	894052	3	4	32	1	0	0	0	0	1	0	0	0	4595	130	5	5	689	5	DMRT1	9	894052	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09		894052	140319379	97	4362										
PTPRD	5789	genome.wustl.edu	37	chr9	8465527	8465527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	attcttgaccactttggagtTgcttgtttgtaaatccacca	7	9	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:8465527T>C	ENST00000381196.4	-	29	4196	c.3653A>G	c.(3652-3654)cAa>cGa	p.Q1218R	PTPRD_ENST00000537002.1_Missense_Mutation_p.Q804R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q797R|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1196R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q807R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1205R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q807R|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q797R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q804R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1218R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1218R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1218					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTTTGGAGTTGCTTGTTTGT	0.413										TSP Lung(15;0.13)																																							0													185	170	175					9																	8465527		2203	4299	6502	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3653A>G	9.37:g.8465527T>C	ENSP00000370593:p.Gln1218Arg		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1218R	ENST00000381196.4	37	c.3653	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501012	0.64298	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.5	5.5	0.81552	.	0.122177	0.64402	D	0.000014	T	0.48040	0.1478	N	0.12182	0.205	0.58432	D	0.999999	B;P;P;B;B;P;B;B;B	0.48294	0.003;0.851;0.851;0.137;0.001;0.908;0.001;0.075;0.028	B;P;P;B;B;P;B;B;B	0.61397	0.003;0.775;0.775;0.029;0.022;0.888;0.007;0.055;0.031	T	0.46762	-0.9168	9	.	.	.	.	15.5717	0.76345	0.0:0.0:0.0:1.0	.	797;802;807;807;804;804;1205;1218;1218	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1218;1218;1205;1196;807;797;804;804;689;1218;807;797	ENSP00000370593:Q1218R;ENSP00000348812:Q1218R;ENSP00000353187:Q1205R;ENSP00000351293:Q1196R;ENSP00000347373:Q807R;ENSP00000380741:Q797R;ENSP00000380735:Q804R;ENSP00000440515:Q804R;ENSP00000438164:Q1218R;ENSP00000417093:Q807R;ENSP00000380731:Q797R	.	Q	-	2	0	PTPRD	8455527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.217000	0.71921	0.528000	0.53228	CAA	PTPRD	-	NULL		0.413	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	T			8465527	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8465527	T	C	8465527	3	2	32	1	0	0	0	0	1	0	0	0	12829	1812	63	5	2210	5	PTPRD	9	8465527	Missense_Mutation	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	7571475	8465527	132747904	98	4363										
MPDZ	8777	genome.wustl.edu	37	chr9	13192225	13192225	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	acagcacaccattgtcacttCtataggcagttcttttaaga	6	10	3	1	rs534459463		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:13192225C>T	ENST00000319217.7	-	15	2120	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	MPDZ_ENST00000536827.1_Missense_Mutation_p.E625K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E625K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E625K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E625K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E625K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E625K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	625	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTGTCACTTCTATAGGCAGT	0.403													C|||	1	0.000199681	0	0	5008	,	,		16458	0		0	False		,,,				2504	0.001																0													118	110	112					9																	13192225		1909	4133	6042	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1873G>A	9.37:g.13192225C>T	ENSP00000320006:p.Glu625Lys		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E625K	ENST00000319217.7	37	c.1873		9	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644021	0.14451	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.77	2.33	0.28932	.	0.295993	0.24160	N	0.040984	T	0.11452	0.0279	L	0.35414	1.06	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.19745	-1.0296	10	0.05620	T	0.96	.	0.4487	0.00497	0.201:0.3396:0.1958:0.2636	.	625;625;625	B7ZMI4;O75970-3;O75970-2	.;.;.	K	625	ENSP00000320006:E625K;ENSP00000439807:E625K;ENSP00000370410:E625K;ENSP00000444151:E625K;ENSP00000415208:E625K;ENSP00000370403:E625K;ENSP00000446358:E625K	ENSP00000320006:E625K	E	-	1	0	MPDZ	13182225	0.993000	0.37304	1.000000	0.80357	0.948000	0.59901	1.033000	0.30191	1.446000	0.47643	-0.137000	0.14449	GAA	MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13192225	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13192225	C	T	13192225	3	4	32	1	0	0	0	0	1	0	0	0	9745	922	32	1	4380	1	MPDZ	9	13192225	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	4726698	13192225	128021206	99	4364										
IFNA5	3442	genome.wustl.edu	37	chr9	21304814	21304814	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cagatagagggtgattctttGaaagtattttctcacagtca	9	6	3	4			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:21304814G>A	ENST00000259555.4	-	1	498	c.442C>T	c.(442-444)Caa>Taa	p.Q148*		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	148					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTGATTCTTTGAAAGTATTTT	0.448																																																	0													206	206	206					9																	21304814		2203	4300	6503	SO:0001587	stop_gained	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"Interferons"	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.442C>T	9.37:g.21304814G>A	ENSP00000259555:p.Gln148*		Q52LX3	Nonsense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.Q148*	ENST00000259555.4	37	c.442	CCDS6502.1	9	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145830	0.37923	.	.	ENSG00000147873	ENST00000259555	.	.	.	4.16	0.842	0.18927	.	0.439077	0.24698	N	0.036334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.3947	0.07302	0.1001:0.1685:0.5583:0.1731	.	.	.	.	X	148	.	ENSP00000259555:Q148X	Q	-	1	0	IFNA5	21294814	0.013000	0.17824	0.202000	0.23494	0.001000	0.01503	-0.055000	0.11807	0.332000	0.23536	-0.311000	0.09066	CAA	IFNA5	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.448	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA5	HGNC	protein_coding	OTTHUMT00000051893.1	G	NM_002169		21304814	-1	no_errors	ENST00000259555	ensembl	human	known	70_37	nonsense	SNP	0.415	A	A	21304814	G	A	21304814	4	1	32	1	0	0	0	0	0	1	0	0	7560	1299	45	1	131	1	IFNA5	9	21304814	Nonsense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	8112589	21304814	119908617	100	4365										
KIF24	347240	genome.wustl.edu	37	chr9	34263154	34263154	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgtgttcctgatccagtgctCggatacattccttcagctgc	9	12	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:34263154C>G	ENST00000402558.2	-	8	1484	c.1460G>C	c.(1459-1461)cGa>cCa	p.R487P	KIF24_ENST00000379174.3_Missense_Mutation_p.R353P|KIF24_ENST00000379166.2_Missense_Mutation_p.R487P|KIF24_ENST00000345050.2_Missense_Mutation_p.R353P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	487	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATCCAGTGCTCGGATACATTC	0.458																																																	0													190	176	181					9																	34263154		1986	4161	6147	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1460G>C	9.37:g.34263154C>G	ENSP00000384433:p.Arg487Pro		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R487P	ENST00000402558.2	37	c.1460	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867104	0.91511	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.97	5.97	0.96955	Kinesin, motor domain (3);	0.000000	0.31963	N	0.006786	D	0.90848	0.7125	H	0.94264	3.515	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92228	0.5790	10	0.72032	D	0.01	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	487;487	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	P	487;353;487;353;487	ENSP00000384433:R487P;ENSP00000368472:R353P;ENSP00000368464:R487P;ENSP00000340179:R353P	ENSP00000340179:R353P	R	-	2	0	KIF24	34253154	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.563000	0.73964	2.835000	0.97688	0.591000	0.81541	CGA	KIF24	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.458	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	C			34263154	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34263154	C	G	34263154	3	3	32	1	0	0	0	0	1	0	0	0	8312	884	31	1	2666	1	KIF24	9	34263154	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	12958340	34263154	106950277	101	4366										
FANCG	2189	genome.wustl.edu	37	chr9	35078671	35078671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgggccaagcttgccctcaGgataatgaagttgcaggtga	13	9	1	2	rs115131067	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:35078671G>C	ENST00000378643.3	-	3	729	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	80					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTTGCCCTCAGGATAATGAAG	0.562			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	0													84	79	81					9																	35078671		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.238C>G	9.37:g.35078671G>C	ENSP00000367910:p.Leu80Val			Missense_Mutation	SNP	superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.L80V	ENST00000378643.3	37	c.238	CCDS6574.1	9	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497977	0.64186	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;T	0.80653	0.39;-1.4	5.29	3.43	0.39272	.	.	.	.	.	T	0.75882	0.3910	M	0.72118	2.19	0.27074	N	0.963249	P	0.42908	0.793	B	0.38225	0.268	T	0.70249	-0.4924	9	0.56958	D	0.05	-9.7549	5.7458	0.18120	0.0894:0.0:0.561:0.3496	.	80	O15287	FANCG_HUMAN	V	80	ENSP00000367910:L80V;ENSP00000409607:L80V	ENSP00000367910:L80V	L	-	1	2	FANCG	35068671	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.490000	0.22403	1.208000	0.43306	0.591000	0.81541	CTG	FANCG	-	superfamily_Sig_transdc_His_kin_Hpt_dom		0.562	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	HGNC	protein_coding	OTTHUMT00000052269.1	G	NM_004629		35078671	-1	no_errors	ENST00000378643	ensembl	human	known	70_37	missense	SNP	0.938	C	C	35078671	G	C	35078671	3	2	32	1	0	0	0	0	1	0	0	0	5686	991	35	4	1678	4	FANCG	9	35078671	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	815517	35078671	106134760	102	4367										
PRUNE2	158471	genome.wustl.edu	37	chr9	79259658	79259658	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgctgagctcgactacctcCgtgagaaatgactctcctgt	9	12	1	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:79259658C>A	ENST00000376718.3	-	12	8848	c.8725G>T	c.(8725-8727)Gga>Tga	p.G2909*	PRUNE2_ENST00000443509.2_Nonsense_Mutation_p.G158*|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.G2551*|PRUNE2_ENST00000223609.6_Nonsense_Mutation_p.G174*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2909	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGACTACCTCCGTGAGAAATG	0.493																																																	0													105	90	95					9																	79259658		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8725G>T	9.37:g.79259658C>A	ENSP00000365908:p.Gly2909*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G2551*	ENST00000376718.3	37	c.7651	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.333039|5.333039	0.95758|0.95758	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81093	.|0.4751	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78443	.|-0.2202	.|3	0.59425|.	D|.	0.04|.	.|.	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	174;2909;2551;127;158;79;174;2909|2230	.|.	ENSP00000223609:G174X|.	G|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78449478|78449478	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.474000|0.474000	0.32979|0.32979	7.487000|7.487000	0.81328|0.81328	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GGA|CGG	PRUNE2	-	pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79259658	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	79259658	C	A	79259658	4	1	32	1	0	0	0	0	0	1	0	0	12668	661	23	2	573	2	PRUNE2	9	79259658	Nonsense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	44180987	79259658	61953773	103	4368										
BAAT	570	genome.wustl.edu	37	chr9	104133518	104133518	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agcatgattcaggtccacctCaccgaattcattggccctat	7	13	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:104133518C>G	ENST00000395051.3	-	1	239	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	BAAT_ENST00000259407.2_Missense_Mutation_p.E57Q			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	57					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGTCCACCTCACCGAATTCA	0.458																																																	0													112	108	109					9																	104133518		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.169G>C	9.37:g.104133518C>G	ENSP00000378491:p.Glu57Gln		Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.E57Q	ENST00000395051.3	37	c.169	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912013	0.17907	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.71341	-0.56;-0.56	4.41	3.52	0.40303	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.091251	0.46145	D	0.000313	T	0.77164	0.4090	M	0.63169	1.94	0.09310	N	0.999999	D	0.71674	0.998	D	0.68765	0.96	T	0.65327	-0.6195	10	0.44086	T	0.13	-11.3041	6.6594	0.23007	0.0:0.7906:0.0:0.2094	.	57	Q14032	BAAT_HUMAN	Q	57	ENSP00000259407:E57Q;ENSP00000378491:E57Q	ENSP00000259407:E57Q	E	-	1	0	BAAT	103173339	0.136000	0.22515	0.678000	0.29963	0.121000	0.20230	1.112000	0.31172	1.063000	0.40649	-0.136000	0.14681	GAG	BAAT	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain		0.458	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	C			104133518	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	missense	SNP	0.275	G	G	104133518	C	G	104133518	3	3	32	1	0	0	0	0	1	0	0	0	1281	835	29	1	1099	1	BAAT	9	104133518	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	24873860	104133518	37079913	104	4369										
TTC16	158248	genome.wustl.edu	37	chr9	130493590	130493590	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	caagagccagggcatgagctCaacttccagcaaggccgagt	12	12	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:130493590C>G	ENST00000373289.3	+	14	2608	c.2528C>G	c.(2527-2529)tCa>tGa	p.S843*	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	843										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCATGAGCTCAACTTCCAGC	0.582																																																	0													61	67	65					9																	130493590		2203	4300	6503	SO:0001587	stop_gained	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2528C>G	9.37:g.130493590C>G	ENSP00000362386:p.Ser843*		B4DYG4|B5ME24|Q5JU66|Q96M72	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S843*	ENST00000373289.3	37	c.2528	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.445954	0.96187	.	.	ENSG00000167094	ENST00000373289	.	.	.	3.8	-0.503	0.12000	.	1.884730	0.02636	N	0.104832	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	0.0016	2.2316	0.03998	0.3206:0.4176:0.1579:0.1039	.	.	.	.	X	843	.	ENSP00000362386:S843X	S	+	2	0	TTC16	129533411	0.000000	0.05858	0.000000	0.03702	0.437000	0.31866	0.237000	0.17985	-0.074000	0.12820	0.462000	0.41574	TCA	TTC16	-	NULL		0.582	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1	C	NM_144965		130493590	1	no_errors	ENST00000373289	ensembl	human	known	70_37	nonsense	SNP	0.001	G	G	130493590	C	G	130493590	4	3	32	1	0	0	0	0	0	1	0	0	16714	838	29	1	2582	1	TTC16	9	130493590	Nonsense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	26360072	130493590	10719841	105	4370										
CERCAM	51148	genome.wustl.edu	37	chr9	131186429	131186429	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cctcaaagtttgcagacacaGacaacattctgaccaacaat	5	12	2	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:131186429G>C	ENST00000372838.4	+	4	837	c.439G>C	c.(439-441)Gac>Cac	p.D147H	CERCAM_ENST00000372842.1_Missense_Mutation_p.D69H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	147					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCAGACACAGACAACATTCT	0.592																																																	0													108	117	114					9																	131186429		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.439G>C	9.37:g.131186429G>C	ENSP00000361929:p.Asp147His		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.D147H	ENST00000372838.4	37	c.439	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324456	0.81580	.	.	ENSG00000167123	ENST00000372842;ENST00000447915;ENST00000420512;ENST00000372838;ENST00000411852;ENST00000413863	D;D;D	0.98090	-4.71;-4.71;-4.71	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	-8.8241	16.7717	0.85539	0.0:0.0:1.0:0.0	.	147	Q5T4B2	GT253_HUMAN	H	69;69;69;147;69;100	ENSP00000361933:D69H;ENSP00000416676:D69H;ENSP00000361929:D147H	ENSP00000361929:D147H	D	+	1	0	CERCAM	130226250	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	9.601000	0.98297	2.529000	0.85273	0.591000	0.81541	GAC	CERCAM	-	NULL		0.592	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131186429	1	no_errors	ENST00000372838	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131186429	G	C	131186429	3	2	32	1	0	0	0	0	1	0	0	0	3271	942	33	1	453	1	CERCAM	9	131186429	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	692839	131186429	10027002	106	4371										
C9orf171	389799	genome.wustl.edu	37	chr9	135374143	135374143	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cggcattaattttaattatgGactctacatccgagggcttg	9	8	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:135374143G>C	ENST00000343036.2	+	3	413	c.365G>C	c.(364-366)gGa>gCa	p.G122A	C9orf171_ENST00000393215.3_Missense_Mutation_p.G86A|C9orf171_ENST00000393216.2_Missense_Mutation_p.G86A	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	122										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TTTAATTATGGACTCTACATC	0.577																																																	0													30	30	30					9																	135374143		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.365G>C	9.37:g.135374143G>C	ENSP00000343290:p.Gly122Ala		Q147X1	Missense_Mutation	SNP	NULL	p.G122A	ENST00000343036.2	37	c.365	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469700	0.63625	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.66638	-0.22;-0.22;-0.22	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.61703	1.905	0.47547	D	0.99945	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82360	-0.0496	10	0.87932	D	0	.	17.9399	0.89023	0.0:0.0:1.0:0.0	.	86;122	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	A	86;122;86	ENSP00000376908:G86A;ENSP00000343290:G122A;ENSP00000376909:G86A	ENSP00000343290:G122A	G	+	2	0	C9orf171	134363964	1.000000	0.71417	0.972000	0.41901	0.398000	0.30690	6.140000	0.71738	2.545000	0.85829	0.655000	0.94253	GGA	C9orf171	-	NULL		0.577	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	G	NM_207417		135374143	1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135374143	G	C	135374143	3	2	32	1	0	0	0	0	1	0	0	0	2475	1174	41	1	375	1	C9orf171	9	135374143	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	4187714	135374143	5839288	107	4372										
MRC1	4360	genome.wustl.edu	37	chr10	17949643	17949643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gaatgattgtgtagctttacAtgcgtcttctgggttttgga	12	5	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:17949643A>T	ENST00000331429.2	+	28	4110	c.4007A>T	c.(4006-4008)cAt>cTt	p.H1336L																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAGCTTTACATGCGTCTTCT	0.418																																																	0													160	169	166					10																	17949643		2186	4283	6469	SO:0001583	missense	101060092																														ENST00000331429.2:c.4007A>T	10.37:g.17949643A>T	ENSP00000332124:p.His1336Leu			Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.H1336L	ENST00000331429.2	37	c.4007		10	.	.	.	.	.	.	.	.	.	.	.	2.385	-0.341221	0.05243	.	.	ENSG00000183748	ENST00000331429	T	0.18657	2.2	4.04	-8.09	0.01090	.	1.224690	0.06052	U	0.656734	T	0.08758	0.0217	.	.	.	0.25877	N	0.98364	B	0.02656	0.0	B	0.04013	0.001	T	0.34950	-0.9808	8	0.10902	T	0.67	-27.4014	8.762	0.34680	0.1946:0.5178:0.0:0.2876	.	1336	B9EJA8	.	L	1336	ENSP00000332124:H1336L	ENSP00000332124:H1336L	H	+	2	0	AL928580.1	17989649	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.678000	0.05209	-2.384000	0.00591	0.416000	0.27883	CAT	MRC1L1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.418	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	LOC101060092	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	A			17949643	1	no_errors	ENST00000331429	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	17949643	A	T	17949643	3	4	32	1	0	0	0	0	1	0	0	0	9779	217	8	5	4117	5	MRC1	10	17949643	Missense_Mutation	SNP	A	TCGA-C5-A2LX-01A-11D-A18J-09		17949643	117585104	108	4373										
MYO3A	53904	genome.wustl.edu	37	chr10	26500868	26500868	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgcgcaaaacctcccagcgCcggcgcctcgtccagcagtc	10	19	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:26500868C>A	ENST00000265944.5	+	35	4993	c.4827C>A	c.(4825-4827)cgC>cgA	p.R1609R	MYO3A_ENST00000543632.1_Missense_Mutation_p.P625T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1609					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCTCCCAGCGCCGGCGCCTCG	0.687																																																	0													36	43	40					10																	26500868		2203	4300	6503	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4827C>A	10.37:g.26500868C>A			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,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,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.P625T	ENST00000265944.5	37	c.1873	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434678	0.12045	.	.	ENSG00000095777	ENST00000543632	T	0.75050	-0.9	4.76	-1.12	0.09808	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.23827	N	0.996731	B	0.02656	0.0	B	0.01281	0.0	T	0.52215	-0.8605	8	0.87932	D	0	.	4.8062	0.13321	0.2331:0.3091:0.3863:0.0715	.	625	F5H0U9	.	T	625	ENSP00000445909:P625T	ENSP00000445909:P625T	P	+	1	0	MYO3A	26540874	0.986000	0.35501	0.939000	0.37840	0.147000	0.21601	0.178000	0.16820	-0.056000	0.13221	0.455000	0.32223	CCG	MYO3A	-	smart_Myosin_head_motor_dom		0.687	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	C	NM_017433		26500868	1	no_errors	ENST00000543632	ensembl	human	known	70_37	missense	SNP	0.862	A	A	26500868	C	A	26500868	2	1	32	1	0	0	0	0	0	0	0	1	10099	726	26	4		4	MYO3A	10	26500868	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	8551225	26500868	109033879	109	4374										
LYZL2	119180	genome.wustl.edu	37	chr10	30918616	30918616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cttagtcggtgacaggcagcTcaggggagcgtcctgcatcc	14	12	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:30918616T>C	ENST00000375318.2	-	1	75	c.19A>G	c.(19-21)Agc>Ggc	p.S7G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GACAGGCAGCTCAGGGGAGCG	0.502																																																	0													55	50	52					10																	30918616		2203	4297	6500	SO:0001583	missense	119180			AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.19A>G	10.37:g.30918616T>C	ENSP00000364467:p.Ser7Gly		Q6NZ69	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.S7G	ENST00000375318.2	37	c.19	CCDS7167.2	10	.	.	.	.	.	.	.	.	.	.	T	7.137	0.581136	0.13686	.	.	ENSG00000151033	ENST00000375318	T	0.70282	-0.47	2.33	1.18	0.20946	.	8.623060	0.00166	N	0.000003	T	0.57710	0.2072	.	.	.	0.09310	N	1	B	0.30211	0.273	B	0.30401	0.115	T	0.43877	-0.9364	9	0.33940	T	0.23	-14.3943	4.0187	0.09655	0.0:0.1804:0.0:0.8196	.	7	Q7Z4W2-2	.	G	7	ENSP00000364467:S7G	ENSP00000364467:S7G	S	-	1	0	LYZL2	30958622	0.286000	0.24305	0.013000	0.15412	0.059000	0.15707	0.726000	0.25984	0.317000	0.23160	0.377000	0.23210	AGC	LYZL2	-	NULL		0.502	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL2	HGNC	protein_coding	OTTHUMT00000047434.1	T	NM_183058		30918616	-1	no_errors	ENST00000375318	ensembl	human	known	70_37	missense	SNP	0.018	C	C	30918616	T	C	30918616	3	2	32	1	0	0	0	0	1	0	0	0	9155	1551	54	5	585	5	LYZL2	10	30918616	Missense_Mutation	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	4417748	30918616	104616131	110	4375										
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43655971	43655972	+	Frame_Shift_Ins	INS	-	-	TCATCTCA													0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	attcatcaagacaagaagatINStcatctcacagtggtgtatt							TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:43655971_43655972insTCATCTCA	ENST00000374466.3	+	4	1243_1244	c.908_909insTCATCTCA	c.(907-912)attcatfs	p.-304fs	CSGALNACT2_ENST00000374464.1_Frame_Shift_Ins_p.-304fs	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACAAGAAGATTCATCTCACAG	0.376																																																	0																																										SO:0001589	frameshift_variant	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.909_916dupTCATCTCA	10.37:g.43655972_43655979dupTCATCTCA	ENSP00000363590:p.His304fs		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Frame_Shift_Ins	INS	pfam_Chond_GalNAc	p.T306fs	ENST00000374466.3	37	c.908_909	CCDS7201.1	10																																																																																			CSGALNACT2	-	pfam_Chond_GalNAc		0.376	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	-	NM_018590		43655972	1	no_errors	ENST00000374466	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	TCATCTCA	TCATCTCA	43655972	-	TCATCTCA	43655971	7	5	32	1	0	1	1	0	0	0	0	0	3944	1493	52	0	918	0	CSGALNACT2	10	43655971	Frame_Shift_Ins	INS	-	TCGA-C5-A2LX-01A-11D-A18J-09	12737355	43655971	91878776	111	4376										
MAPK8	5599	genome.wustl.edu	37	chr10	49628280	49628280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tctggccaggactgcaggaaCgagttttatgatgacgcctt	12	9	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:49628280C>T	ENST00000374189.1	+	6	714	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MAPK8_ENST00000374182.3_Missense_Mutation_p.T178M|MAPK8_ENST00000395611.3_Missense_Mutation_p.T178M|MAPK8_ENST00000374174.1_Missense_Mutation_p.T178M|MAPK8_ENST00000360332.3_Missense_Mutation_p.T178M			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACTGCAGGAACGAGTTTTATG	0.428																																																	0													153	142	146					10																	49628280		2203	4300	6503	SO:0001583	missense	5599			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.533C>T	10.37:g.49628280C>T	ENSP00000363304:p.Thr178Met		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.T178M	ENST00000374189.1	37	c.533	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689650	0.88735	.	.	ENSG00000107643	ENST00000429041;ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;D;D;D;D;D;D;D	0.83335	-0.73;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87289	0.6140	L	0.35723	1.085	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.974;0.979;0.979;0.974	D;P;P;P;P	0.65233	0.933;0.656;0.767;0.767;0.656	D	0.88077	0.2804	10	0.72032	D	0.01	.	19.7014	0.96054	0.0:1.0:0.0:0.0	.	178;178;178;178;178	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	M	95;178;178;178;178;178;178;178	ENSP00000393223:T95M;ENSP00000363304:T178M;ENSP00000363297:T178M;ENSP00000363294:T178M;ENSP00000353483:T178M;ENSP00000363291:T178M;ENSP00000363289:T178M;ENSP00000378974:T178M	ENSP00000353483:T178M	T	+	2	0	MAPK8	49298286	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	5.880000	0.69698	2.729000	0.93468	0.655000	0.94253	ACG	MAPK8	-	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,prints_MAPK_JNK		0.428	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	C			49628280	1	no_errors	ENST00000360332	ensembl	human	known	70_37	missense	SNP	0.999	T	T	49628280	C	T	49628280	3	4	32	1	0	0	0	0	1	0	0	0	9306	536	19	2	551	2	MAPK8	10	49628280	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	5972309	49628280	85906467	112	4377										
ARID5B	84159	genome.wustl.edu	37	chr10	63661474	63661474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	attcagaacgtcgagatggaGcccaactcactccaggtatt	9	11	2	2	rs140010870	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:63661474G>T	ENST00000279873.7	+	1	416	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	2					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCGAGATGGAGCCCAACTCAC	0.577																																																	0													137	115	122					10																	63661474		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.6G>T	10.37:g.63661474G>T	ENSP00000279873:p.Glu2Asp		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E2D	ENST00000279873.7	37	c.6	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012498	0.54468	.	.	ENSG00000150347	ENST00000279873	T	0.55760	0.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	L	0.38531	1.155	0.80722	D	1	D;B	0.67145	0.996;0.274	D;B	0.75484	0.986;0.158	T	0.62840	-0.6769	10	0.45353	T	0.12	-24.6702	18.6521	0.91433	0.0:0.0:1.0:0.0	.	2;2	Q14865-3;Q14865	.;ARI5B_HUMAN	D	2	ENSP00000279873:E2D	ENSP00000279873:E2D	E	+	3	2	ARID5B	63331480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.298000	0.89944	2.782000	0.95742	0.561000	0.74099	GAG	ARID5B	-	NULL		0.577	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	G	XM_084482		63661474	1	no_errors	ENST00000279873	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63661474	G	T	63661474	3	4	32	1	0	0	0	0	1	0	0	0	922	962	34	4	8	4	ARID5B	10	63661474	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	14033194	63661474	71873273	113	4378										
RTKN2	219790	genome.wustl.edu	37	chr10	63957838	63957838	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cgaggagcagccattggtttCtgtaagtgatgcattagagt	13	6	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:63957838C>T	ENST00000373789.3	-	12	1755	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	553					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCATTGGTTTCTGTAAGTGAT	0.418																																																	0													206	184	192					10																	63957838		2203	4300	6503	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1659G>A	10.37:g.63957838C>T			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q553	ENST00000373789.3	37	c.1659	CCDS7263.1	10																																																																																			RTKN2	-	NULL		0.418	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	C	NM_145307		63957838	-1	no_errors	ENST00000373789	ensembl	human	known	70_37	silent	SNP	1.000	T	T	63957838	C	T	63957838	2	4	32	1	0	0	0	0	0	0	0	1	13753	912	32	1		1	RTKN2	10	63957838	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	296364	63957838	71576909	114	4379										
DNAJB12	54788	genome.wustl.edu	37	chr10	74103158	74103158	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtggcaccaggtgcgtggttCttgtctgggtggaatttgag	17	6	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:74103158C>T	ENST00000444643.2	-	3	755	c.423G>A	c.(421-423)aaG>aaA	p.K141K	DNAJB12_ENST00000394903.2_Silent_p.K175K|DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000338820.3_Silent_p.K175K			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	141	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						GTGCGTGGTTCTTGTCTGGGT	0.547																																																	0													162	122	136					10																	74103158		2203	4300	6503	SO:0001819	synonymous_variant	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.423G>A	10.37:g.74103158C>T			B7Z7I3|Q9H6H0	Silent	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K175	ENST00000444643.2	37	c.525		10																																																																																			DNAJB12	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.547	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	C			74103158	-1	no_errors	ENST00000338820	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74103158	C	T	74103158	2	4	32	1	0	0	0	0	0	0	0	1	4627	912	32	1		1	DNAJB12	10	74103158	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	10145320	74103158	61431589	115	4380										
CYP2C9	1559	genome.wustl.edu	37	chr10	96741062	96741062	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tccagagatacattgaccttCtccccaccagcctgccccat	5	18	1	2	rs578144976	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:96741062C>T	ENST00000260682.6	+	7	1096	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	362					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATTGACCTTCTCCCCACCAG	0.507																																					Ovarian(54;1266 1406 16072 35076)												0													191	156	168					10																	96741062		2203	4300	6503	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1084C>T	10.37:g.96741062C>T	ENSP00000260682:p.Leu362Phe		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L362F	ENST00000260682.6	37	c.1084	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	6.220	0.408733	0.11812	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.70045	-0.45	3.67	-7.34	0.01427	.	0.933100	0.08853	U	0.884255	T	0.61274	0.2334	M	0.73372	2.23	0.09310	N	0.999998	B;B	0.22003	0.063;0.063	B;B	0.19666	0.026;0.026	T	0.56013	-0.8049	10	0.62326	D	0.03	.	10.3238	0.43781	0.194:0.5352:0.2708:0.0	.	362;362	Q5VX92;P11712	.;CP2C9_HUMAN	F	362	ENSP00000260682:L362F	ENSP00000260682:L362F	L	+	1	0	CYP2C9	96731052	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-4.895000	0.00172	-5.371000	0.00016	-0.856000	0.03024	CTC	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	C	NM_000771		96741062	1	no_errors	ENST00000260682	ensembl	human	known	70_37	missense	SNP	0.000	T	T	96741062	C	T	96741062	3	4	32	1	0	0	0	0	1	0	0	0	4173	913	32	1	1110	1	CYP2C9	10	96741062	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	22637904	96741062	38793685	116	4381										
NLRP10	338322	genome.wustl.edu	37	chr11	7982843	7982843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccattcctctaggcagcgcaCatgctctcggtatacttctc	7	15	3	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:7982843C>T	ENST00000328600.2	-	2	477	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	106					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCAGCGCACATGCTCTCGG	0.502																																																	0													68	68	68					11																	7982843		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.316G>A	11.37:g.7982843C>T	ENSP00000327763:p.Val106Met		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V106M	ENST00000328600.2	37	c.316	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455893	0.43634	.	.	ENSG00000182261	ENST00000328600	T	0.81078	-1.45	4.85	1.93	0.25924	.	0.000000	0.36893	N	0.002342	T	0.68201	0.2975	L	0.29908	0.895	0.09310	N	0.999994	P	0.35383	0.498	B	0.42319	0.383	T	0.54794	-0.8240	10	0.25751	T	0.34	.	3.6757	0.08291	0.1973:0.6021:0.0:0.2006	.	106	Q86W26	NAL10_HUMAN	M	106	ENSP00000327763:V106M	ENSP00000327763:V106M	V	-	1	0	NLRP10	7939419	0.027000	0.19231	0.811000	0.32455	0.300000	0.27592	0.393000	0.20817	0.714000	0.32081	-0.136000	0.14681	GTG	NLRP10	-	NULL		0.502	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	C	NM_176821		7982843	-1	no_errors	ENST00000328600	ensembl	human	known	70_37	missense	SNP	0.387	T	T	7982843	C	T	7982843	3	4	32	1	0	0	0	0	1	0	0	0	10496	478	17	4	1655	4	NLRP10	11	7982843	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		7982843	127023673	117	4382										
APIP	51074	genome.wustl.edu	37	chr11	34916565	34916565	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccagaaacttacccatgcttCaagctaattcctcctccagt	4	15	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:34916565C>G	ENST00000395787.3	-	2	364	c.150G>C	c.(148-150)ttG>ttC	p.L50F	APIP_ENST00000278359.5_Missense_Mutation_p.L67F|APIP_ENST00000527830.1_Intron	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			ACCCATGCTTCAAGCTAATTC	0.423																																																	0													140	131	134					11																	34916565		2202	4298	6500	SO:0001583	missense	51074			AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"methylthioribulose-1-phosphate dehydratase"	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.150G>C	11.37:g.34916565C>G	ENSP00000379133:p.Leu50Phe			Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB	p.L67F	ENST00000395787.3	37	c.201	CCDS7895.1	11	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629836	0.46944	.	.	ENSG00000149089	ENST00000278359;ENST00000395787	T;T	0.24350	1.86;1.86	5.51	4.61	0.57282	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	L	0.61218	1.895	0.53688	D	0.999973	B;B	0.32467	0.372;0.122	B;B	0.42959	0.403;0.156	T	0.19614	-1.0300	10	0.87932	D	0	-16.9145	6.7322	0.23388	0.1435:0.7102:0.0:0.1463	.	67;50	B4DY17;Q96GX9	.;MTNB_HUMAN	F	67;50	ENSP00000278359:L67F;ENSP00000379133:L50F	ENSP00000278359:L67F	L	-	3	2	APIP	34873141	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	1.134000	0.31442	1.345000	0.45676	-0.214000	0.12660	TTG	APIP	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB		0.423	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APIP	HGNC	protein_coding	OTTHUMT00000389864.1	C	NM_015957		34916565	-1	no_errors	ENST00000278359	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34916565	C	G	34916565	3	3	32	1	0	0	0	0	1	0	0	0	774	825	29	1	602	1	APIP	11	34916565	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	26933722	34916565	100089951	118	4383										
KLC2	64837	genome.wustl.edu	37	chr11	66026210	66026210	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tggttgcacctgaggccggcGaagccgagcctggctcgcag	16	13	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:66026210G>T	ENST00000417856.1	+	2	388	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	KLC2_ENST00000394066.2_Nonsense_Mutation_p.E49*|KLC2_ENST00000394067.2_Nonsense_Mutation_p.E49*|KLC2_ENST00000394078.1_Nonsense_Mutation_p.E49*|KLC2_ENST00000421552.1_Nonsense_Mutation_p.E49*|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_5'Flank|KLC2_ENST00000316924.5_Nonsense_Mutation_p.E49*	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	49					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.E49K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGAGGCCGGCGAAGCCGAGCC	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	breast(1)											34	36	36					11																	66026210		2200	4295	6495	SO:0001587	stop_gained	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.145G>T	11.37:g.66026210G>T	ENSP00000399403:p.Glu49*	1088	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Nonsense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E49*	ENST00000417856.1	37	c.145	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365265	0.82463	.	.	ENSG00000174996	ENST00000531240;ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394078;ENST00000461611;ENST00000475757;ENST00000394066	.	.	.	3.94	3.94	0.45596	.	0.341087	0.25540	N	0.029966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-19.3771	14.9294	0.70903	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000314837:E49X	E	+	1	0	KLC2	65782786	1.000000	0.71417	0.572000	0.28498	0.371000	0.29859	5.425000	0.66470	2.030000	0.59900	0.561000	0.74099	GAA	KLC2	-	NULL		0.667	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66026210	1	no_errors	ENST00000316924	ensembl	human	known	70_37	nonsense	SNP	0.611	T	T	66026210	G	T	66026210	4	4	32	1	0	0	0	0	0	1	0	0	8354	1059	37	3	147	3	KLC2	11	66026210	Nonsense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	31109645	66026210	68980306	119	4384										
TMEM151A	256472	genome.wustl.edu	37	chr11	66062524	66062524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gacgtagacttccgcgagtcGctcatggtcttcgccgaccc	11	15	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:66062524G>A	ENST00000327259.4	+	2	951	c.807G>A	c.(805-807)tcG>tcA	p.S269S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	269						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						TCCGCGAGTCGCTCATGGTCT	0.706																																																	0													17	14	15					11																	66062524		2174	4226	6400	SO:0001819	synonymous_variant	256472			BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.807G>A	11.37:g.66062524G>A			Q8ND14	Silent	SNP	NULL	p.S269	ENST00000327259.4	37	c.807	CCDS8133.1	11																																																																																			TMEM151A	-	NULL		0.706	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM151A	HGNC	protein_coding	OTTHUMT00000391897.1	G	NM_153266		66062524	1	no_errors	ENST00000327259	ensembl	human	known	70_37	silent	SNP	0.104	A	A	66062524	G	A	66062524	2	1	32	1	0	0	0	0	0	0	0	1	16100	1074	38	2		2	TMEM151A	11	66062524	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	36314	66062524	68943992	120	4385										
LRTOMT	220074	genome.wustl.edu	37	chr11	71807777	71807777	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aactcttcacagagtaccagGgtctgtagagatgcctcaca	9	11	4	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:71807777G>A	ENST00000289488.2	+	0	2168				LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000447974.1_Missense_Mutation_p.G149E|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.G149E	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing							cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						agagtaccagggtctgtagag	0.443																																																	0													51	48	49					11																	71807777		692	1591	2283	SO:0001624	3_prime_UTR_variant	220074				CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"leucine rich repeat containing 51", "deafness, autosomal recessive 63"	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.*1211G>A	11.37:g.71807777G>A			B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	NULL	p.G149E	ENST00000289488.2	37	c.446	CCDS8208.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450106	0.43531	.	.	ENSG00000184154	ENST00000447974;ENST00000541614	.	.	.	3.91	3.0	0.34707	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.09310	N	0.99999	B	0.09022	0.002	B	0.09377	0.004	T	0.25152	-1.0140	7	0.87932	D	0	.	7.5749	0.27931	0.1155:0.0:0.8845:0.0	.	149	Q96E66-2	.	E	149	.	ENSP00000414271:G149E	G	+	2	0	LRTOMT	71485425	0.015000	0.18098	0.003000	0.11579	0.768000	0.43524	1.318000	0.33643	1.238000	0.43771	-0.346000	0.07831	GGG	LRTOMT	-	NULL		0.443	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000337504.1	G	NM_145309		71807777	1	no_errors	ENST00000447974	ensembl	human	known	70_37	missense	SNP	0.003	A	A	71807777	G	A	71807777	1	1	32	0	1	0	0	0	0	0	0	0	9069	1232	43	4		4	LRTOMT	11	71807777	3'UTR	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	5745253	71807777	63198739	121	4386										
UVRAG	7405	genome.wustl.edu	37	chr11	75727906	75727906	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cccttggttatactgcacatCtggtctccatgatttccttt	6	12	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:75727906C>G	ENST00000356136.3	+	12	1349	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.L269V|UVRAG_ENST00000532130.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	370					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TACTGCACATCTGGTCTCCAT	0.353																																																	0													174	164	167					11																	75727906		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1108C>G	11.37:g.75727906C>G	ENSP00000348455:p.Leu370Val		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L370V	ENST00000356136.3	37	c.1108	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	c	15.30	2.791563	0.50102	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.52983	0.64;0.64	4.6	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.54908	1.71	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.50389	-0.8834	10	0.36615	T	0.2	-5.9878	10.0766	0.42364	0.0:0.1615:0.0:0.8385	.	370	Q9P2Y5	UVRAG_HUMAN	V	370;269	ENSP00000348455:L370V;ENSP00000436039:L269V	ENSP00000348455:L370V	L	+	1	2	UVRAG	75405554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.432000	0.44784	0.300000	0.22699	-1.208000	0.01637	CTG	UVRAG	-	NULL		0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	C	NM_003369		75727906	1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75727906	C	G	75727906	3	3	32	1	0	0	0	0	1	0	0	0	17139	912	32	1	1154	1	UVRAG	11	75727906	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	3920129	75727906	59278610	122	4387										
WNT11	7481	genome.wustl.edu	37	chr11	75905741	75905741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agctgaggttgtccgcacatCctccccagcggttcccgggc	12	16	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:75905741C>T	ENST00000322563.3	-	3	591	c.467G>A	c.(466-468)gGa>gAa	p.G156E	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	156				G -> R (in Ref. 1; CAA74159/CAA73223). {ECO:0000305}.	adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GTCCGCACATCCTCCCCAGCG	0.647																																																	0													40	34	36					11																	75905741		1885	3703	5588	SO:0001583	missense	7481			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.467G>A	11.37:g.75905741C>T	ENSP00000325526:p.Gly156Glu		B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.G156E	ENST00000322563.3	37	c.467	CCDS8242.1	11	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006065	0.93287	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	D	0.83419	-1.72	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94870	0.8029	10	0.87932	D	0	.	17.1651	0.86814	0.0:1.0:0.0:0.0	.	156	O96014	WNT11_HUMAN	E	156	ENSP00000325526:G156E	ENSP00000325526:G156E	G	-	2	0	WNT11	75583389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.287000	0.76781	0.555000	0.69702	GGA	WNT11	-	pfam_Wnt,smart_Wnt,prints_Wnt		0.647	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT11	HGNC	protein_coding	OTTHUMT00000383083.1	C	NM_004626		75905741	-1	no_errors	ENST00000322563	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75905741	C	T	75905741	3	4	32	1	0	0	0	0	1	0	0	0	17415	855	30	1	609	1	WNT11	11	75905741	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	177835	75905741	59100775	123	4388										
PCF11	51585	genome.wustl.edu	37	chr11	82876722	82876722	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aaattacatgtttcacagatTccccctatggcagttaaagc	6	10	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:82876722T>A	ENST00000298281.4	+	5	1235	c.783T>A	c.(781-783)atT>atA	p.I261I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	261					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTCACAGATTCCCCCTATGG	0.413																																																	0													50	47	48					11																	82876722		1851	4093	5944	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.783T>A	11.37:g.82876722T>A			A6H8W7|O43671|Q6P0X8	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.I261	ENST00000298281.4	37	c.783	CCDS44689.1	11																																																																																			PCF11	-	NULL		0.413	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	T	NM_015885		82876722	1	no_errors	ENST00000298281	ensembl	human	known	70_37	silent	SNP	0.974	A	A	82876722	T	A	82876722	2	1	32	1	0	0	0	0	0	0	0	1	11597	1771	62	5		5	PCF11	11	82876722	Silent	SNP	T	TCGA-C5-A2LX-01A-11D-A18J-09	6970981	82876722	52129794	124	4389										
SYTL2	54843	genome.wustl.edu	37	chr11	85435387	85435387	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agttttaatggtccctatttCatgagccacataaagttgtg	8	7	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:85435387C>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.E1229K|SYTL2_ENST00000525423.1_Missense_Mutation_p.E705K|SYTL2_ENST00000354566.3_Missense_Mutation_p.E705K|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTCCCTATTTCATGAGCCACA	0.493																																																	0													94	90	91					11																	85435387		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3385G>A	11.37:g.85435387C>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1229K	ENST00000528231.1	37	c.3685	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	3.128	-0.179093	0.06380	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.48201	1.35;1.36;1.36;0.82	6.17	1.99	0.26369	.	1.296190	0.04582	N	0.395187	T	0.26048	0.0635	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.13407	0.009;0.009;0.009	T	0.19418	-1.0306	9	.	.	.	-0.0371	5.6088	0.17394	0.0:0.5561:0.132:0.3119	.	705;705;705	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	K	1229;705;705;124	ENSP00000352065:E1229K;ENSP00000346576:E705K;ENSP00000432694:E705K;ENSP00000435009:E124K	.	E	-	1	0	SYTL2	85113035	0.544000	0.26441	0.210000	0.23637	0.118000	0.20060	0.396000	0.20867	0.427000	0.26145	0.655000	0.94253	GAA	SYTL2	-	NULL		0.493	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	C	NM_206927		85435387	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.151	T	T	85435387	C	T	85435387	1	4	32	0	1	0	0	0	0	0	0	0	15513	835	29	1		1	SYTL2	11	85435387	Intron	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2558665	85435387	49571129	125	4390										
PKNOX2	63876	genome.wustl.edu	37	chr11	125280125	125280125	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	attcccccaattccatgtccGgagtctccaataacccccag	5	17	1	0	rs572689602		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:125280125G>C	ENST00000298282.9	+	8	893	c.622G>C	c.(622-624)Gga>Cga	p.G208R	PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											124	129	127					11																	125280125		2066	4220	6286	SO:0001583	missense	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.622G>C	11.37:g.125280125G>C	ENSP00000298282:p.Gly208Arg		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G208R	ENST00000298282.9	37	c.622	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317008	0.60524	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84516	-1.86;-1.86;-1.85;-1.85	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	T	0.80829	0.4698	L	0.32530	0.975	0.48288	D	0.999629	B;B	0.30542	0.284;0.199	B;B	0.32090	0.14;0.062	T	0.76683	-0.2869	10	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	144;208	F5GZ15;Q96KN3	.;PKNX2_HUMAN	R	179;179;208;144;196	ENSP00000434732:G179R;ENSP00000433971:G179R;ENSP00000298282:G208R;ENSP00000441470:G144R	ENSP00000298282:G208R	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA	PKNOX2	-	NULL		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3	G			125280125	1	no_errors	ENST00000298282	ensembl	human	known	70_37	missense	SNP	1.000	C	C	125280125	G	C	125280125	3	2	32	1	0	0	0	0	1	0	0	0	12007	1117	39	2	640	2	PKNOX2	11	125280125	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	39844738	125280125	9726391	126	4391										
KDM5A	5927	genome.wustl.edu	37	chr12	475192	475192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cccagttccttttcctggcaGatatcccaagcgactaccca	6	16	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:475192G>C	ENST00000399788.2	-	4	807	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	KDM5A_ENST00000382815.4_Missense_Mutation_p.L149V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	149	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTCCTGGCAGATATCCCAAG	0.418			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													266	265	265					12																	475192		1834	4090	5924	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.445C>G	12.37:g.475192G>C	ENSP00000382688:p.Leu149Val		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L149V	ENST00000399788.2	37	c.445	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016628	0.35606	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815;ENST00000535014	T;T;T	0.62941	-0.01;-0.01;0.98	5.52	4.62	0.57501	ARID/BRIGHT DNA-binding domain (5);	0.141330	0.49916	D	0.000130	T	0.40719	0.1128	N	0.08118	0	0.38070	D	0.936353	B;B;B	0.21225	0.001;0.04;0.053	B;B;B	0.25987	0.016;0.065;0.062	T	0.38200	-0.9672	10	0.45353	T	0.12	-6.0075	8.1461	0.31113	0.0713:0.0:0.644:0.2847	.	149;149;149	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	V	108;149;149;108	ENSP00000382688:L149V;ENSP00000372265:L149V;ENSP00000443854:L108V	ENSP00000372265:L149V	L	-	1	2	KDM5A	345453	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.198000	0.51035	1.442000	0.47568	0.655000	0.94253	CTG	KDM5A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		475192	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	475192	G	C	475192	3	2	32	1	0	0	0	0	1	0	0	0	8153	933	33	1	4727	1	KDM5A	12	475192	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		475192	133376703	127	4392										
TNFRSF1A	7132	genome.wustl.edu	37	chr12	6439073	6439073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tggtgccacctctctgcgggGagccgcaaagttgggacagt	15	11	1	0	rs201794033		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:6439073G>A	ENST00000162749.2	-	9	1227	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.P267S|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	310					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCTCTGCGGGGAGCCGCAAAG	0.652																																																	0													22	24	24					12																	6439073		2192	4283	6475	SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.928C>T	12.37:g.6439073G>A	ENSP00000162749:p.Pro310Ser		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.P310S	ENST00000162749.2	37	c.928	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638917	0.29157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.92199	-2.99;-2.99	4.5	-3.68	0.04463	.	155.122000	0.00166	N	0.000000	D	0.93350	0.7880	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.996;0.999	D;P	0.66497	0.944;0.902	T	0.83295	-0.0031	9	.	.	.	-0.4596	3.386	0.07272	0.1833:0.2108:0.4996:0.1063	.	267;310	F5H061;P19438	.;TNR1A_HUMAN	S	310;267	ENSP00000162749:P310S;ENSP00000438343:P267S	.	P	-	1	0	TNFRSF1A	6309334	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.398000	0.07259	-0.913000	0.03832	-1.267000	0.01435	CCC	TNFRSF1A	-	NULL		0.652	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	G	NM_001065		6439073	-1	no_errors	ENST00000162749	ensembl	human	known	70_37	missense	SNP	0.000	A	A	6439073	G	A	6439073	3	1	32	1	0	0	0	0	1	0	0	0	16323	1174	41	1	447	1	TNFRSF1A	12	6439073	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	5963881	6439073	127412822	128	4393										
SCNN1A	6337	genome.wustl.edu	37	chr12	6464457	6464457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccttcctcatgctgatggagGtctccacgccaggccgcaag	11	15	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:6464457G>T	ENST00000228916.2	-	6	1222	c.1124C>A	c.(1123-1125)aCc>aAc	p.T375N	SCNN1A_ENST00000396966.2_Missense_Mutation_p.T375N|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.T375N|SCNN1A_ENST00000360168.3_Missense_Mutation_p.T434N|SCNN1A_ENST00000543768.1_Missense_Mutation_p.T398N|SCNN1A_ENST00000540037.1_Missense_Mutation_p.T75N	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	375					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCTGATGGAGGTCTCCACGCC	0.617																																																	0													54	45	48					12																	6464457		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1124C>A	12.37:g.6464457G>T	ENSP00000228916:p.Thr375Asn		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T375N	ENST00000228916.2	37	c.1124	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331469	0.81690	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.91	4.91	0.64330	.	2.762270	0.01813	N	0.033576	D	0.86818	0.6024	M	0.90650	3.135	0.53005	D	0.999967	D;D;D	0.60575	0.988;0.957;0.964	D;P;P	0.63381	0.914;0.649;0.477	T	0.73603	-0.3930	10	0.62326	D	0.03	-5.766	15.6094	0.76704	0.0:0.0:1.0:0.0	.	398;375;434	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	N	434;375;75;375;375;398	ENSP00000353292:T434N;ENSP00000351825:T375N;ENSP00000440876:T75N;ENSP00000228916:T375N;ENSP00000380166:T375N;ENSP00000438739:T398N	ENSP00000228916:T375N	T	-	2	0	SCNN1A	6334718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.529000	0.67135	2.268000	0.75426	0.561000	0.74099	ACC	SCNN1A	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.617	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	G			6464457	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6464457	G	T	6464457	3	4	32	1	0	0	0	0	1	0	0	0	13957	1261	44	4	917	4	SCNN1A	12	6464457	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	25384	6464457	127387438	129	4394										
CHD4	1108	genome.wustl.edu	37	chr12	6690234	6690234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gggctctgtctccataggttCctctgttctctccttcacct	7	15	5	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:6690234C>T	ENST00000357008.2	-	33	5048	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.E1657K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1622K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1654K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1629	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCATAGGTTCCTCTGTTCTC	0.507																																					Colon(32;586 792 4568 16848 45314)												0													266	267	267					12																	6690234		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4885G>A	12.37:g.6690234C>T	ENSP00000349508:p.Glu1629Lys		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1657K	ENST00000357008.2	37	c.4969	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838804	0.51057	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90133	-2.62;-2.6;-2.62;-2.6	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	M	0.64997	1.995	0.39222	D	0.963521	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.13407	0.009;0.004;0.009	T	0.82442	-0.0455	10	0.20046	T	0.44	.	12.0489	0.53495	0.0:0.921:0.0:0.079	.	1657;1629;1622	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1654;1622;1657;1629;1603	ENSP00000440392:E1654K;ENSP00000440542:E1622K;ENSP00000312419:E1657K;ENSP00000349508:E1629K	ENSP00000312419:E1657K	E	-	1	0	CHD4	6560495	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.705000	0.54823	2.720000	0.93068	0.655000	0.94253	GAA	CHD4	-	NULL		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6690234	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6690234	C	T	6690234	3	4	32	1	0	0	0	0	1	0	0	0	3332	864	30	1	885	1	CHD4	12	6690234	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	225777	6690234	127161661	130	4395										
STYK1	55359	genome.wustl.edu	37	chr12	10782274	10782274	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctcatggagcccagctggttCtgtagaggacgaaagatcca	12	10	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:10782274C>T	ENST00000075503.3	-	6	972		c.e6-1			NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCAGCTGGTTCTGTAGAGGAC	0.517										HNSCC(73;0.22)																																							0													53	54	53					12																	10782274		2203	4300	6503	SO:0001630	splice_region_variant	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.452-1G>A	12.37:g.10782274C>T			B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Splice_Site	SNP	-	e4-1	ENST00000075503.3	37	c.452-1	CCDS8629.1	12	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422933	0.25639	.	.	ENSG00000060140	ENST00000075503	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4122	0.87489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STYK1	10673541	1.000000	0.71417	0.897000	0.35233	0.151000	0.21798	5.019000	0.64060	2.782000	0.95742	0.655000	0.94253	.	STYK1	-	-		0.517	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1	C	NM_018423	Intron	10782274	-1	no_errors	ENST00000075503	ensembl	human	known	70_37	splice_site	SNP	0.998	T	T	10782274	C	T	10782274	5	4	32	1	0	0	0	0	0	0	1	0	15389	927	32	1	841	1	STYK1	12	10782274	Splice_Site	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	4092040	10782274	123069621	131	4396										
GLI1	2735	genome.wustl.edu	37	chr12	57864774	57864774	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gagcgaggggtccaggctctCtgcctcttgggcctggtcca	15	13	2	0	rs192168783		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:57864774C>G	ENST00000228682.2	+	12	2342	c.2251C>G	c.(2251-2253)Ctg>Gtg	p.L751V	GLI1_ENST00000546141.1_Missense_Mutation_p.L710V|GLI1_ENST00000543426.1_Missense_Mutation_p.L623V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	751					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCAGGCTCTCTGCCTCTTGG	0.597																																					Pancreas(157;841 1936 10503 41495 50368)												0													69	70	69					12																	57864774		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2251C>G	12.37:g.57864774C>G	ENSP00000228682:p.Leu751Val		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L751V	ENST00000228682.2	37	c.2251	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	C	8.517	0.867849	0.17250	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.18338	2.29;2.22;2.31;2.31	4.62	-0.404	0.12396	.	0.000000	0.35040	N	0.003482	T	0.14787	0.0357	N	0.22421	0.69	0.24776	N	0.992841	D	0.58268	0.982	D	0.67548	0.952	T	0.21965	-1.0230	10	0.13108	T	0.6	.	0.4534	0.00505	0.2607:0.3046:0.1272:0.3075	.	751	P08151	GLI1_HUMAN	V	623;751;710;710	ENSP00000437607:L623V;ENSP00000228682:L751V;ENSP00000441006:L710V;ENSP00000434408:L710V	ENSP00000228682:L751V	L	+	1	2	GLI1	56151041	0.000000	0.05858	0.896000	0.35187	0.559000	0.35586	-0.021000	0.12504	-0.192000	0.10432	-2.193000	0.00311	CTG	GLI1	-	NULL		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	C	NM_005269		57864774	1	no_errors	ENST00000228682	ensembl	human	known	70_37	missense	SNP	0.736	G	G	57864774	C	G	57864774	3	3	32	1	0	0	0	0	1	0	0	0	6456	912	32	1	2293	1	GLI1	12	57864774	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	47082500	57864774	75987121	132	4397										
BBS10	79738	genome.wustl.edu	37	chr12	76740006	76740006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agatgaggaaaggtaactctGggaagtacccatattcggta	12	6	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:76740006G>T	ENST00000393262.3	-	2	1842	c.1759C>A	c.(1759-1761)Cag>Aag	p.Q587K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	587					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGGTAACTCTGGGAAGTACCC	0.363									Bardet-Biedl syndrome																																								0													107	103	104					12																	76740006		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1759C>A	12.37:g.76740006G>T	ENSP00000376946:p.Gln587Lys		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.Q587K	ENST00000393262.3	37	c.1759	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191793	0.09547	.	.	ENSG00000179941	ENST00000393262	D	0.87029	-2.2	4.54	3.63	0.41609	.	0.915862	0.09210	N	0.833346	D	0.83599	0.5289	M	0.63843	1.955	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.67417	-0.5676	10	0.14252	T	0.57	9.92	9.3381	0.38062	0.0:0.1573:0.6799:0.1629	.	587	Q8TAM1	BBS10_HUMAN	K	587	ENSP00000376946:Q587K	ENSP00000376946:Q587K	Q	-	1	0	BBS10	75264137	0.078000	0.21339	0.006000	0.13384	0.836000	0.47400	2.901000	0.48695	1.260000	0.44134	0.650000	0.86243	CAG	BBS10	-	superfamily_Cpn60/TCP-1		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	G	NM_024685		76740006	-1	no_errors	ENST00000393262	ensembl	human	known	70_37	missense	SNP	0.004	T	T	76740006	G	T	76740006	3	4	32	1	0	0	0	0	1	0	0	0	1337	1357	47	4	416	4	BBS10	12	76740006	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	18875232	76740006	57111889	133	4398										
ABCB9	23457	genome.wustl.edu	37	chr12	123433238	123433238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agcccatgaaggtgaccaagGagagctgccatgagaggctg	15	9	0	4			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:123433238G>A	ENST00000542678.1	-	5	3824	c.986C>T	c.(985-987)tCc>tTc	p.S329F	ABCB9_ENST00000346530.5_Missense_Mutation_p.S329F|ABCB9_ENST00000442028.2_Missense_Mutation_p.S329F|ABCB9_ENST00000540285.1_Missense_Mutation_p.S329F|ABCB9_ENST00000442833.2_Missense_Mutation_p.S329F|ABCB9_ENST00000392439.3_Missense_Mutation_p.S329F|ABCB9_ENST00000280560.8_Missense_Mutation_p.S329F|ABCB9_ENST00000344275.7_Missense_Mutation_p.S329F			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	329	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTGACCAAGGAGAGCTGCCA	0.557																																					Ovarian(49;786 1333 9175 38236)												0													138	101	114					12																	123433238		2203	4300	6503	SO:0001583	missense	23457			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.986C>T	12.37:g.123433238G>A	ENSP00000440288:p.Ser329Phe		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S329F	ENST00000542678.1	37	c.986	CCDS9241.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332740	0.81801	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000540971;ENST00000536976;ENST00000541424	D;D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.056515	0.64402	D	0.000001	D	0.93996	0.8077	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.983;0.999;0.983;0.995;1.0	D;D;D;D;D	0.79108	0.969;0.978;0.917;0.947;0.992	D	0.94354	0.7582	10	0.87932	D	0	-41.1076	19.2341	0.93851	0.0:0.0:1.0:0.0	.	329;329;111;329;329	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	F	329;329;329;329;329;329;35;91;108	ENSP00000280560:S329F;ENSP00000441734:S329F;ENSP00000280559:S329F;ENSP00000376234:S329F;ENSP00000440288:S329F;ENSP00000394898:S329F;ENSP00000441086:S35F;ENSP00000443433:S91F;ENSP00000440138:S108F	ENSP00000280560:S329F	S	-	2	0	ABCB9	121999191	1.000000	0.71417	0.872000	0.34217	0.995000	0.86356	7.815000	0.86186	2.532000	0.85374	0.561000	0.74099	TCC	ABCB9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.557	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB9	HGNC	protein_coding	OTTHUMT00000400956.1	G	NM_019624		123433238	-1	no_errors	ENST00000442028	ensembl	human	known	70_37	missense	SNP	0.996	A	A	123433238	G	A	123433238	3	1	32	1	0	0	0	0	1	0	0	0	48	1174	41	1	1346	1	ABCB9	12	123433238	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	46693232	123433238	10418657	134	4399										
SCARB1	949	genome.wustl.edu	37	chr12	125298946	125298946	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttattctccatcatcaccgcCgcaccctgcaaggcgaaggg	9	15	3	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:125298946C>A	ENST00000415380.2	-	4	557	c.432G>T	c.(430-432)gcG>gcT	p.A144A	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.A144A|SCARB1_ENST00000540495.1_Silent_p.A107A|SCARB1_ENST00000544327.1_Silent_p.A90A|SCARB1_ENST00000541205.1_Silent_p.A103A|SCARB1_ENST00000339570.5_Silent_p.A144A|SCARB1_ENST00000546215.1_Silent_p.A144A|SCARB1_ENST00000376788.1_Silent_p.A44A			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	144					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCATCACCGCCGCACCCTGCA	0.602																																																	0													95	74	81					12																	125298946		2203	4300	6503	SO:0001819	synonymous_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.432G>T	12.37:g.125298946C>A			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.A144	ENST00000415380.2	37	c.432		12																																																																																			SCARB1	-	pfam_CD36		0.602	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	C	NM_005505		125298946	-1	no_errors	ENST00000415380	ensembl	human	known	70_37	silent	SNP	0.000	A	A	125298946	C	A	125298946	2	1	32	1	0	0	0	0	0	0	0	1	13911	639	23	2		2	SCARB1	12	125298946	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1865708	125298946	8552949	135	4400										
FLT3	2322	genome.wustl.edu	37	chr13	28608483	28608483	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agggttaaaacgacaatgaaGaggagacaaacaccaattgt	10	6	0	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr13:28608483G>T	ENST00000241453.7	-	13	1740	c.1659C>A	c.(1657-1659)ctC>ctA	p.L553L	FLT3_ENST00000380982.4_Silent_p.L553L|FLT3_ENST00000537084.1_Silent_p.L553L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	553					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGACAATGAAGAGGAGACAAA	0.383			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													103	95	97					13																	28608483		2203	4300	6503	SO:0001819	synonymous_variant	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1659C>A	13.37:g.28608483G>T			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L553	ENST00000241453.7	37	c.1659	CCDS31953.1	13																																																																																			FLT3	-	NULL		0.383	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	G			28608483	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	silent	SNP	0.610	T	T	28608483	G	T	28608483	2	4	32	1	0	0	0	0	0	0	0	1	5960	929	33	3		3	FLT3	13	28608483	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		28608483	86561395	136	4401										
FREM2	341640	genome.wustl.edu	37	chr13	39263748	39263748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agacgaaaatcacctgccagCcccactgggtaccttggtct	9	14	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr13:39263748C>A	ENST00000280481.7	+	1	2483	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	756					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGCCAGCCCCACTGGGT	0.527																																																	0													76	81	79					13																	39263748		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2267C>A	13.37:g.39263748C>A	ENSP00000280481:p.Ala756Asp		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A756D	ENST00000280481.7	37	c.2267	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574893	0.28092	.	.	ENSG00000150893	ENST00000280481	T	0.42131	0.98	5.8	4.09	0.47781	.	0.123452	0.64402	D	0.000018	T	0.37073	0.0990	L	0.55103	1.725	0.39336	D	0.965496	B	0.33135	0.399	B	0.38156	0.266	T	0.11348	-1.0591	10	0.12430	T	0.62	.	9.0006	0.36079	0.0:0.7774:0.0:0.2226	.	756	Q5SZK8	FREM2_HUMAN	D	756	ENSP00000280481:A756D	ENSP00000280481:A756D	A	+	2	0	FREM2	38161748	0.000000	0.05858	0.982000	0.44146	0.938000	0.57974	0.494000	0.22467	0.821000	0.34540	0.655000	0.94253	GCC	FREM2	-	NULL		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	C	NM_207361		39263748	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.322	A	A	39263748	C	A	39263748	3	1	32	1	0	0	0	0	1	0	0	0	6063	739	26	4	2269	4	FREM2	13	39263748	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	10655265	39263748	75906130	137	4402										
EPSTI1	94240	genome.wustl.edu	37	chr13	43491701	43491701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgatgttgttcatccttcatCttttgcaattttctgttttc	5	8	4	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr13:43491701C>G	ENST00000398762.3	-	9	749	c.750G>C	c.(748-750)aaG>aaC	p.K250N	EPSTI1_ENST00000313624.7_Missense_Mutation_p.K239N|EPSTI1_ENST00000313640.7_Missense_Mutation_p.K250N|EPSTI1_ENST00000476830.2_5'Flank			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	250										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CATCCTTCATCTTTTGCAATT	0.333																																																	0													310	295	300					13																	43491701		2203	4300	6503	SO:0001583	missense	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.750G>C	13.37:g.43491701C>G	ENSP00000381746:p.Lys250Asn		Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	NULL	p.K250N	ENST00000398762.3	37	c.750	CCDS9387.1	13	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906186	0.33628	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.23552	1.9	4.85	1.41	0.22369	.	0.365794	0.28021	N	0.016915	T	0.33990	0.0882	M	0.62723	1.935	0.29563	N	0.850454	P;D	0.53619	0.933;0.961	P;P	0.53689	0.548;0.732	T	0.19712	-1.0297	10	0.49607	T	0.09	-12.8016	8.2679	0.31827	0.0:0.6602:0.0:0.3398	.	239;250	Q96J88-2;Q96J88-3	.;.	N	250;239;250	ENSP00000318982:K250N	ENSP00000318643:K239N	K	-	3	2	EPSTI1	42389701	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	1.623000	0.37008	0.248000	0.21435	-0.136000	0.14681	AAG	EPSTI1	-	NULL		0.333	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	C	NM_001002264		43491701	-1	no_errors	ENST00000313640	ensembl	human	known	70_37	missense	SNP	0.962	G	G	43491701	C	G	43491701	3	3	32	1	0	0	0	0	1	0	0	0	5210	912	32	1	502	1	EPSTI1	13	43491701	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	4227953	43491701	71678177	138	4403										
KLHL28	54813	genome.wustl.edu	37	chr14	45398273	45398273	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttgcagcgacagtatatcatGccagctgaatccagccacgt	9	12	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr14:45398273G>T	ENST00000396128.4	-	5	1793	c.1674C>A	c.(1672-1674)ggC>ggA	p.G558G	KLHL28_ENST00000355081.2_Silent_p.G572G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	558										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTATATCATGCCAGCTGAAT	0.438																																																	0													203	186	192					14																	45398273		2203	4300	6503	SO:0001819	synonymous_variant	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1674C>A	14.37:g.45398273G>T			Q0VAL5	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G558	ENST00000396128.4	37	c.1674	CCDS9680.1	14																																																																																			KLHL28	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.438	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	G			45398273	-1	no_errors	ENST00000396128	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45398273	G	T	45398273	2	4	32	1	0	0	0	0	0	0	0	1	8402	1306	46	4		4	KLHL28	14	45398273	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		45398273	61951267	139	4404										
ADAM20	8748	genome.wustl.edu	37	chr14	70989425	70989425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctttcccatcacatttaatcCttccatgttgttcttaggag	5	11	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr14:70989425C>T	ENST00000256389.3	-	2	2444	c.2200G>A	c.(2200-2202)Gga>Aga	p.G734R	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	684					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACATTTAATCCTTCCATGTTG	0.433																																																	0													317	256	277					14																	70989425		2203	4300	6503	SO:0001583	missense	8748			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2200G>A	14.37:g.70989425C>T	ENSP00000256389:p.Gly734Arg		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G734R	ENST00000256389.3	37	c.2200	CCDS32111.1	14	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.320989	0.01320	.	.	ENSG00000134007	ENST00000256389	T	0.00932	5.53	1.52	0.419	0.16438	.	.	.	.	.	T	0.00637	0.0021	N	0.16266	0.395	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.46707	-0.9172	9	0.16420	T	0.52	.	3.5708	0.07917	0.0:0.6884:0.0:0.3116	.	684	O43506	ADA20_HUMAN	R	734	ENSP00000256389:G734R	ENSP00000256389:G734R	G	-	1	0	ADAM20	70059178	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.246000	0.08878	0.133000	0.18654	-0.355000	0.07637	GGA	ADAM20	-	NULL		0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2	C			70989425	-1	no_errors	ENST00000256389	ensembl	human	known	70_37	missense	SNP	0.001	T	T	70989425	C	T	70989425	3	4	32	1	0	0	0	0	1	0	0	0	242	690	24	4	134	4	ADAM20	14	70989425	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	25591152	70989425	36360115	140	4405										
ATPBD4	89978	genome.wustl.edu	37	chr15	35814434	35814434	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgcatgtgaaaatcttggaGattcagagcatcatattcag	9	6	4	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:35814434G>A	ENST00000256538.4	-	3	339				DPH6_ENST00000440392.2_Missense_Mutation_p.L120F	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										AAATCTTGGAGATTCAGAGCA	0.423																																																	0													87	74	78					15																	35814434		1566	3580	5146	SO:0001627	intron_variant	89978				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.312+16040C>T	15.37:g.35814434G>A			B3KWG1|Q96HJ6	Missense_Mutation	SNP	pfam_DUF71_ATP-bd_dom	p.L120F	ENST00000256538.4	37	c.358	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148866	0.37923	.	.	ENSG00000134146	ENST00000440392	T	0.48201	0.82	5.33	3.43	0.39272	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.20403	N	0.999903	P	0.49090	0.919	P	0.47075	0.536	T	0.29243	-1.0018	8	0.51188	T	0.08	.	8.3224	0.32136	0.0837:0.1569:0.7594:0.0	.	120	B3KWG1	.	F	120	ENSP00000406976:L120F	ENSP00000406976:L120F	L	-	1	0	ATPBD4	33601726	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.306000	0.43673	0.798000	0.33994	0.655000	0.94253	CTC	ATPBD4	-	NULL		0.423	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPBD4	HGNC	protein_coding	OTTHUMT00000251973.1	G	NM_080650		35814434	-1	no_errors	ENST00000440392	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35814434	G	A	35814434	1	1	32	0	1	0	0	0	0	0	0	0	1203	942	33	1		1	ATPBD4	15	35814434	Intron	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		35814434	66716958	141	4406										
UACA	55075	genome.wustl.edu	37	chr15	70959510	70959510	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttctcaaatgcttctttaatCtgcaaatgctctgccagggg	8	10	4	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:70959510C>T	ENST00000322954.6	-	16	3698	c.3513G>A	c.(3511-3513)caG>caA	p.Q1171Q	UACA_ENST00000539319.1_Silent_p.Q1062Q|UACA_ENST00000560441.1_Silent_p.Q1156Q|UACA_ENST00000379983.2_Silent_p.Q1158Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1171					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTCTTTAATCTGCAAATGCT	0.403																																																	0													146	147	147					15																	70959510		2199	4297	6496	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3513G>A	15.37:g.70959510C>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.Q1171	ENST00000322954.6	37	c.3513	CCDS10235.1	15																																																																																			UACA	-	NULL		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70959510	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	0.509	T	T	70959510	C	T	70959510	2	4	32	1	0	0	0	0	0	0	0	1	16855	912	32	1		1	UACA	15	70959510	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	35145076	70959510	31571882	142	4407										
GRAMD2	196996	genome.wustl.edu	37	chr15	72460080	72460080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tcaccactcattactaccttGatatccttgccaaagaggct	5	13	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:72460080G>C	ENST00000309731.7	-	5	382	c.369C>G	c.(367-369)atC>atG	p.I123M	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	123	GRAM.					integral component of membrane (GO:0016021)		p.I123M(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTACTACCTTGATATCCTTGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											78	71	73					15																	72460080		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.369C>G	15.37:g.72460080G>C	ENSP00000311657:p.Ile123Met		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.I123M	ENST00000309731.7	37	c.369	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631398	0.67015	.	.	ENSG00000175318	ENST00000309731	D	0.86497	-2.13	5.0	2.0	0.26442	GRAM (2);	0.096428	0.64402	D	0.000001	D	0.88702	0.6508	L	0.49350	1.555	0.38012	D	0.934576	D	0.89917	1.0	D	0.97110	1.0	D	0.86416	0.1751	10	0.87932	D	0	.	4.2599	0.10735	0.0771:0.1384:0.4988:0.2857	.	123	Q8IUY3	GRAM2_HUMAN	M	123	ENSP00000311657:I123M	ENSP00000311657:I123M	I	-	3	3	GRAMD2	70247134	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	2.914000	0.48797	0.259000	0.21709	0.561000	0.74099	ATC	GRAMD2	-	pfam_GRAM,smart_GRAM		0.597	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	G	NM_001012642		72460080	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72460080	G	C	72460080	3	2	32	1	0	0	0	0	1	0	0	0	6770	1280	45	1	727	1	GRAMD2	15	72460080	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1500570	72460080	30071312	143	4408										
TBC1D21	161514	genome.wustl.edu	37	chr15	74166104	74166104	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gccagacagtcagcctccttCatcctggtgcgtgttctttg	10	13	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:74166104C>A	ENST00000300504.2	+	1	137	c.54C>A	c.(52-54)ttC>ttA	p.F18L	TBC1D21_ENST00000562056.1_Missense_Mutation_p.F18L|RP11-24D15.1_ENST00000569137.1_RNA|TBC1D21_ENST00000535547.2_Missense_Mutation_p.F18L|RP11-24D15.1_ENST00000562667.1_RNA	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	18						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGCCTCCTTCATCCTGGTGC	0.567											OREG0023267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													211	133	159					15																	74166104		2198	4297	6495	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.54C>A	15.37:g.74166104C>A	ENSP00000300504:p.Phe18Leu	1150	B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F18L	ENST00000300504.2	37	c.54	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387820	0.61956	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.12569	2.67;3.73	5.64	4.73	0.59995	.	0.000000	0.50627	D	0.000112	T	0.14917	0.0360	N	0.19112	0.55	0.38273	D	0.942202	P;P	0.49447	0.924;0.688	P;B	0.60682	0.878;0.095	T	0.09640	-1.0665	10	0.02654	T	1	-16.404	10.1574	0.42831	0.0:0.9086:0.0:0.0914	.	18;18	B9A6M2;Q8IYX1	.;TBC21_HUMAN	L	18	ENSP00000300504:F18L;ENSP00000439325:F18L	ENSP00000300504:F18L	F	+	3	2	TBC1D21	71953157	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.214000	0.32419	1.362000	0.46000	0.563000	0.77884	TTC	TBC1D21	-	NULL		0.567	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	C	NM_153356		74166104	1	no_errors	ENST00000300504	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74166104	C	A	74166104	3	1	32	1	0	0	0	0	1	0	0	0	15640	825	29	3	56	3	TBC1D21	15	74166104	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1706024	74166104	28365288	144	4409										
ADAMTS7	11173	genome.wustl.edu	37	chr15	79066564	79066564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctcggacctggtagcaggggGtgccatcgaccacggcgtcc	15	14	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:79066564G>A	ENST00000388820.4	-	13	2165	c.1955C>T	c.(1954-1956)aCc>aTc	p.T652I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	652	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGCAGGGGGTGCCATCGAC	0.637																																																	0													20	16	18					15																	79066564		2083	3993	6076	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1955C>T	15.37:g.79066564G>A	ENSP00000373472:p.Thr652Ile		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T652I	ENST00000388820.4	37	c.1955	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125671	0.77436	.	.	ENSG00000136378	ENST00000388820	T	0.77620	-1.11	4.23	4.23	0.50019	.	0.059375	0.64402	D	0.000003	D	0.90338	0.6977	H	0.94886	3.595	0.54753	D	0.999988	D;D	0.67145	0.996;0.996	D;D	0.65010	0.931;0.911	D	0.93223	0.6610	10	0.87932	D	0	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	652;652	A8MQ00;Q9UKP4	.;ATS7_HUMAN	I	652	ENSP00000373472:T652I	ENSP00000373472:T652I	T	-	2	0	ADAMTS7	76853619	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.414000	0.97362	2.337000	0.79520	0.484000	0.47621	ACC	ADAMTS7	-	NULL		0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	G	NM_014272		79066564	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79066564	G	A	79066564	3	1	32	1	0	0	0	0	1	0	0	0	271	1261	44	4	3153	4	ADAMTS7	15	79066564	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	4900460	79066564	23464828	145	4410										
UBE2I	7329	genome.wustl.edu	37	chr16	1370260	1370260	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttagaggaggacaaggactgGaggccagccatcacaatcaa	12	9	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:1370260G>C	ENST00000355803.4	+	5	860	c.309G>C	c.(307-309)tgG>tgC	p.W103C	UBE2I_ENST00000403747.2_Missense_Mutation_p.W103C|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000406620.1_Missense_Mutation_p.W103C|UBE2I_ENST00000566587.1_Missense_Mutation_p.W103C|UBE2I_ENST00000402301.1_Missense_Mutation_p.W103C|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.W103C|UBE2I_ENST00000397514.3_Missense_Mutation_p.W103C|UBE2I_ENST00000397515.2_Missense_Mutation_p.W103C	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	103					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.W103C(1)		breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				ACAAGGACTGGAGGCCAGCCA	0.567																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											63	58	60					16																	1370260		2199	4300	6499	SO:0001583	missense	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.309G>C	16.37:g.1370260G>C	ENSP00000348056:p.Trp103Cys		D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.W103C	ENST00000355803.4	37	c.309	CCDS10433.1	16	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907913	0.72868	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.13	4.16	0.48862	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	H	0.99964	5.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.94733	0.7911	10	0.87932	D	0	-11.6047	13.3648	0.60678	0.0:0.1595:0.8405:0.0	.	103;103	B0QYN7;P63279	.;UBC9_HUMAN	C	103	ENSP00000324897:W103C;ENSP00000348056:W103C;ENSP00000380649:W103C;ENSP00000380650:W103C;ENSP00000384568:W103C;ENSP00000385009:W103C;ENSP00000384361:W103C	ENSP00000324897:W103C	W	+	3	0	UBE2I	1310261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.596000	0.98267	1.378000	0.46305	0.561000	0.74099	TGG	UBE2I	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.567	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	HGNC	protein_coding	OTTHUMT00000250317.2	G	NM_003345		1370260	1	no_errors	ENST00000325437	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1370260	G	C	1370260	3	2	32	1	0	0	0	0	1	0	0	0	16890	1183	41	1	323	1	UBE2I	16	1370260	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		1370260	88984493	146	4411										
PKD1	5310	genome.wustl.edu	37	chr16	2155420	2155420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgatgttcttgcgtatctggGctcggtgctgccgctcgtgc	14	11	2	1	rs141175694		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:2155420G>A	ENST00000262304.4	-	21	8127	c.7919C>T	c.(7918-7920)gCc>gTc	p.A2640V	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.A2640V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2640	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGTATCTGGGCTCGGTGCTG	0.652																																																	0									VAL/ALA,VAL/ALA	0,2630		0,0,1315	44	63	56		7919,7919	2.7	0.9	16	dbSNP_134	56	1,4721		0,1,2360	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	0,1,3675	AA,AG,GG		0.0212,0.0,0.0136	benign,benign	2640/4303,2640/4304	2155420	1,7351	1315	2361	3676	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7919C>T	16.37:g.2155420G>A	ENSP00000262304:p.Ala2640Val		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A2640V	ENST00000262304.4	37	c.7919	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	7.093	0.572624	0.13623	0.0	2.12E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.34667	1.35;1.35	4.76	2.7	0.31948	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.431846	0.25313	N	0.031565	T	0.23330	0.0564	L	0.31207	0.915	0.25504	N	0.987521	B;B	0.25850	0.136;0.015	B;B	0.22880	0.042;0.008	T	0.13495	-1.0507	10	0.23891	T	0.37	.	10.1323	0.42687	0.0756:0.1368:0.7876:0.0	.	2640;2640	P98161-3;P98161	.;PKD1_HUMAN	V	2640;2640;1975;919	ENSP00000262304:A2640V;ENSP00000399501:A2640V	ENSP00000262304:A2640V	A	-	2	0	PKD1	2095421	0.996000	0.38824	0.928000	0.36995	0.183000	0.23260	1.466000	0.35310	1.244000	0.43870	0.544000	0.68410	GCC	PKD1	-	pfscan_REJ-like,tigrfam_Polycystin_cat		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2155420	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.873	A	A	2155420	G	A	2155420	3	1	32	1	0	0	0	0	1	0	0	0	11987	1203	42	4	5096	4	PKD1	16	2155420	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	785160	2155420	88199333	147	4412										
PKD1	5310	genome.wustl.edu	37	chr16	2159882	2159882	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgggtggtaaatggctcggaGgtctcccagctcagcccctc	13	13	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:2159882G>T	ENST00000262304.4	-	15	5494	c.5286C>A	c.(5284-5286)acC>acA	p.T1762T	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.T1762T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1762	PKD 13. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGCTCGGAGGTCTCCCAGC	0.632																																																	0													50	46	47					16																	2159882		2192	4297	6489	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5286C>A	16.37:g.2159882G>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.T1762	ENST00000262304.4	37	c.5286	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.632	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2159882	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.069	T	T	2159882	G	T	2159882	2	4	32	1	0	0	0	0	0	0	0	1	11987	987	35	4		4	PKD1	16	2159882	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	4462	2159882	88194871	148	4413										
CREBBP	1387	genome.wustl.edu	37	chr16	3786748	3786748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgggtattttttgatcaggtGggtggcaatggaagatgtaa	15	2	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:3786748G>C	ENST00000262367.5	-	27	5272	c.4463C>G	c.(4462-4464)cCa>cGa	p.P1488R	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1450R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1488	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P1488R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGATCAGGTGGGTGGCAATG	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											244	209	221					16																	3786748		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4463C>G	16.37:g.3786748G>C	ENSP00000262367:p.Pro1488Arg		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P1488R	ENST00000262367.5	37	c.4463	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	20.4	3.992657	0.74703	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.97924	-4.61;-4.61	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98942	1.0791	10	0.87932	D	0	-17.1968	18.1954	0.89819	0.0:0.0:1.0:0.0	.	1518;1488	Q4LE28;Q92793	.;CBP_HUMAN	R	1488;1518;1450;77	ENSP00000262367:P1488R;ENSP00000371502:P1450R	ENSP00000262367:P1488R	P	-	2	0	CREBBP	3726749	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.607000	0.88179	0.561000	0.74099	CCA	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3786748	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3786748	G	C	3786748	3	2	32	1	0	0	0	0	1	0	0	0	3866	1348	47	4	2885	4	CREBBP	16	3786748	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1626866	3786748	86568005	149	4414										
PPL	5493	genome.wustl.edu	37	chr16	4938172	4938172	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	acgtggcttctccttccattCtccaagtcgagaagagacct	8	13	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:4938172C>G	ENST00000345988.2	-	20	2534	c.2445G>C	c.(2443-2445)gaG>gaC	p.E815D	PPL_ENST00000590782.2_Missense_Mutation_p.E813D	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	815					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCTTCCATTCTCCAAGTCGA	0.527																																																	0													141	122	128					16																	4938172		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2445G>C	16.37:g.4938172C>G	ENSP00000340510:p.Glu815Asp		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E815D	ENST00000345988.2	37	c.2445	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772246	0.69992	.	.	ENSG00000118898	ENST00000345988	T	0.54675	0.56	5.21	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.76002	2.32	0.41927	D	0.99054	D	0.69078	0.997	D	0.72625	0.978	T	0.68390	-0.5421	10	0.62326	D	0.03	.	8.415	0.32666	0.0:0.646:0.0:0.3539	.	815	O60437	PEPL_HUMAN	D	815	ENSP00000340510:E815D	ENSP00000340510:E815D	E	-	3	2	PPL	4878173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.992000	0.29667	1.213000	0.43380	0.561000	0.74099	GAG	PPL	-	smart_Spectrin/alpha-actinin		0.527	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4938172	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4938172	C	G	4938172	3	3	32	1	0	0	0	0	1	0	0	0	12361	912	32	1	2837	1	PPL	16	4938172	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1151424	4938172	85416581	150	4415										
VWA3A	146177	genome.wustl.edu	37	chr16	22157643	22157643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtgttaaggcgctatgtccaGaggctgcagtggctgctgtc	15	9	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:22157643G>C	ENST00000389398.5	+	27	2913	c.2817G>C	c.(2815-2817)caG>caC	p.Q939H	VWA3A_ENST00000389397.4_Missense_Mutation_p.Q17H|VWA3A_ENST00000563755.1_Missense_Mutation_p.Q17H	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	939						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCTATGTCCAGAGGCTGCAGT	0.602																																																	0													75	79	78					16																	22157643		2126	4234	6360	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2817G>C	16.37:g.22157643G>C	ENSP00000374049:p.Gln939His		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q939H	ENST00000389398.5	37	c.2817	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420878	0.62622	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.43688	2.59;0.94	5.11	2.02	0.26589	.	0.272698	0.30890	N	0.008663	T	0.53449	0.1797	M	0.63428	1.95	0.37344	D	0.910519	B;D	0.62365	0.058;0.991	B;P	0.61201	0.04;0.885	T	0.59925	-0.7362	10	0.62326	D	0.03	.	9.5938	0.39563	0.2529:0.0:0.7471:0.0	.	939;17	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	H	939;17;562	ENSP00000374049:Q939H;ENSP00000374048:Q17H	ENSP00000299840:Q562H	Q	+	3	2	VWA3A	22065144	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	1.384000	0.34396	0.645000	0.30675	0.655000	0.94253	CAG	VWA3A	-	NULL		0.602	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	G			22157643	1	no_errors	ENST00000389398	ensembl	human	known	70_37	missense	SNP	0.998	C	C	22157643	G	C	22157643	3	2	32	1	0	0	0	0	1	0	0	0	17271	933	33	1	2923	1	VWA3A	16	22157643	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	17219471	22157643	68197110	151	4416										
GGA2	23062	genome.wustl.edu	37	chr16	23498096	23498096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctcggggtggttgctctttaGaagccttgtcagaagctgca	13	9	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:23498096G>C	ENST00000309859.4	-	7	677	c.595C>G	c.(595-597)Cta>Gta	p.L199V	GGA2_ENST00000567468.1_Missense_Mutation_p.L199V	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	199	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTGCTCTTTAGAAGCCTTGTC	0.502																																																	0													202	193	196					16																	23498096		2197	4300	6497	SO:0001583	missense	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.595C>G	16.37:g.23498096G>C	ENSP00000311962:p.Leu199Val		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.L199V	ENST00000309859.4	37	c.595	CCDS10611.1	16	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366333	0.61513	.	.	ENSG00000103365	ENST00000309859	T	0.46063	0.88	6.07	4.13	0.48395	GAT (1);	0.000000	0.64402	D	0.000001	T	0.64450	0.2599	M	0.87097	2.86	0.41680	D	0.98928	D	0.76494	0.999	D	0.80764	0.994	T	0.65492	-0.6155	10	0.44086	T	0.13	-19.9421	8.541	0.33393	0.2333:0.0:0.7667:0.0	.	199	Q9UJY4	GGA2_HUMAN	V	199	ENSP00000311962:L199V	ENSP00000311962:L199V	L	-	1	2	GGA2	23405597	0.981000	0.34729	1.000000	0.80357	0.823000	0.46562	1.839000	0.39220	0.913000	0.36797	-0.142000	0.14014	CTA	GGA2	-	pfscan_GAT		0.502	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	G			23498096	-1	no_errors	ENST00000309859	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23498096	G	C	23498096	3	2	32	1	0	0	0	0	1	0	0	0	6372	933	33	1	1290	1	GGA2	16	23498096	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1340453	23498096	66856657	152	4417										
IL4R	3566	genome.wustl.edu	37	chr16	27374370	27374370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccagcatggggcagctgcagCccccgtctcggcccccacca	11	20	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:27374370C>T	ENST00000395762.2	+	11	1956	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	IL4R_ENST00000380922.3_Missense_Mutation_p.A551V|IL4R_ENST00000170630.2_Missense_Mutation_p.A566V|IL4R_ENST00000543915.2_Missense_Mutation_p.A566V	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	566	Poly-Ala.|Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGCTGCAGCCCCCGTCTCG	0.657																																																	0													26	32	30					16																	27374370		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1697C>T	16.37:g.27374370C>T	ENSP00000379111:p.Ala566Val		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A566V	ENST00000395762.2	37	c.1697	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179364	0.57800	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	4.88	-2.71	0.05986	.	9.374490	0.00166	N	0.000001	T	0.10723	0.0262	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30584	0.121;0.121;0.286	B;B;B	0.25884	0.064;0.064;0.064	T	0.41070	-0.9529	10	0.66056	D	0.02	-18.8182	8.3913	0.32531	0.0:0.3267:0.4947:0.1785	.	551;566;566	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	V	566;566;551;566	ENSP00000379111:A566V;ENSP00000441667:A566V;ENSP00000370309:A551V;ENSP00000170630:A566V	ENSP00000170630:A566V	A	+	2	0	IL4R	27281871	0.020000	0.18652	0.003000	0.11579	0.009000	0.06853	0.511000	0.22739	-0.209000	0.10156	0.555000	0.69702	GCC	IL4R	-	NULL		0.657	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	C			27374370	1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.001	T	T	27374370	C	T	27374370	3	4	32	1	0	0	0	0	1	0	0	0	7718	739	26	4	1749	4	IL4R	16	27374370	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	3876274	27374370	62980383	153	4418										
HERPUD1	9709	genome.wustl.edu	37	chr16	56976054	56976054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tcctttgaaggcatcacgttGggtggtttccatttagaccg	11	9	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:56976054G>T	ENST00000439977.2	+	7	1113	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	HERPUD1_ENST00000300302.5_Missense_Mutation_p.G305W|RP11-325K4.2_ENST00000570210.1_RNA|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G281W|HERPUD1_ENST00000344114.4_Missense_Mutation_p.G147W	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	306					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GCATCACGTTGGGTGGTTTCC	0.468			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	0													206	178	187					16																	56976054		2198	4300	6498	SO:0001583	missense	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.916G>T	16.37:g.56976054G>T	ENSP00000409555:p.Gly306Trp		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.G306W	ENST00000439977.2	37	c.916	CCDS10771.1	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814163	0.90790	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.65364	1.92;-0.15	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82954	-0.0201	10	0.87932	D	0	-19.0271	18.8707	0.92313	0.0:0.0:1.0:0.0	.	147;281;305;306	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	W	305;281;306;147	ENSP00000369118:G281W;ENSP00000340931:G147W	ENSP00000300302:G306W	G	+	1	0	HERPUD1	55533555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.190000	0.65104	2.784000	0.95788	0.655000	0.94253	GGG	HERPUD1	-	NULL		0.468	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	G			56976054	1	no_errors	ENST00000439977	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56976054	G	T	56976054	3	4	32	1	0	0	0	0	1	0	0	0	7083	1348	47	4	942	4	HERPUD1	16	56976054	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	29601684	56976054	33378699	154	4419										
PABPN1L	390748	genome.wustl.edu	37	chr16	88930774	88930774	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tgatcccagggaagttggttCttttcggcagcacctggagc	13	10	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:88930774C>G	ENST00000419291.2	-	6	679	c.668G>C	c.(667-669)aGa>aCa	p.R223T	PABPN1L_ENST00000427766.1_Missense_Mutation_p.K187N|PABPN1L_ENST00000411789.2_Missense_Mutation_p.E194Q|PABPN1L_ENST00000378358.4_Missense_Mutation_p.R223T	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	223	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GAAGTTGGTTCTTTTCGGCAG	0.672																																																	0													36	41	39					16																	88930774		1902	4060	5962	SO:0001583	missense	390748				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"RNA binding motif (RRM) containing"	37237	protein-coding gene	gene with protein product	"embryonic poly(A) binding protein 2"					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.668G>C	16.37:g.88930774C>G	ENSP00000408598:p.Arg223Thr		A1L3B3|A2VDI2	Missense_Mutation	SNP	NULL	p.K187N	ENST00000419291.2	37	c.561	CCDS45547.2	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.55|16.55|16.55	3.155648|3.155648|3.155648	0.57259|0.57259|0.57259	.|.|.	.|.|.	ENSG00000205022|ENSG00000205022|ENSG00000205022	ENST00000411789|ENST00000427766;ENST00000547152|ENST00000378358;ENST00000419291	.|.|T;T	.|.|0.74842	.|.|-0.88;-0.88	5.12|5.12|5.12	4.16|4.16|4.16	0.48862|0.48862|0.48862	.|.|RNA recognition motif domain (1);	.|.|0.045811	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.81418|0.81418|0.81418	0.4818|0.4818|0.4818	M|M|M	0.90252|0.90252|0.90252	3.1|3.1|3.1	0.25427|0.25427|0.25427	N|N|N	0.988211|0.988211|0.988211	D|D|P;D	0.63046|0.71674|0.61080	0.992|0.998|0.8;0.989	D|D|B;P	0.68192|0.71656|0.48400	0.956|0.974|0.244;0.576	T|T|T	0.77062|0.77062|0.77062	-0.2727|-0.2727|-0.2727	8|8|10	0.87932|0.27082|0.87932	D|T|D	0|0.32|0	-1.7663|-1.7663|-1.7663	11.0124|11.0124|11.0124	0.47669|0.47669|0.47669	0.0:0.843:0.0:0.157|0.0:0.843:0.0:0.157|0.0:0.843:0.0:0.157	.|.|.	194|187|223;223	A6NDY0-2|C9JEK9|A6NDY0;A6NDY0-4	.|.|EPAB2_HUMAN;.	Q|N|T	194|187|223	.|.|ENSP00000367609:R223T;ENSP00000408598:R223T	ENSP00000405259:E194Q|ENSP00000390913:K187N|ENSP00000367609:R223T	E|K|R	-|-|-	1|3|2	0|2|0	PABPN1L|PABPN1L|PABPN1L	87458275|87458275|87458275	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.642000|0.642000|0.642000	0.38348|0.38348|0.38348	4.826000|4.826000|4.826000	0.62715|0.62715|0.62715	1.151000|1.151000|1.151000	0.42436|0.42436|0.42436	0.456000|0.456000|0.456000	0.33151|0.33151|0.33151	GAA|AAG|AGA	PABPN1L	-	NULL		0.672	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	HGNC	protein_coding	OTTHUMT00000407502.1	C	NM_001080487		88930774	-1	no_errors	ENST00000427766	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88930774	C	G	88930774	3	3	32	1	0	0	0	0	1	0	0	0	11393	913	32	1	208	1	PABPN1L	16	88930774	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	31954720	88930774	1423979	155	4420										
PRPF8	10594	genome.wustl.edu	37	chr17	1561948	1561948	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agatgaatagagctgtagccCcttgcggatccgttcacgta	11	10	1	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:1561948C>G	ENST00000572621.1	-	32	5513	c.5248G>C	c.(5248-5250)Ggg>Cgg	p.G1750R	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1750R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1750	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGCTGTAGCCCCTTGCGGATC	0.493																																																	0													145	128	134					17																	1561948		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5248G>C	17.37:g.1561948C>G	ENSP00000460348:p.Gly1750Arg		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.G1750R	ENST00000572621.1	37	c.5248	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365814	0.82463	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	T	0.80909	-1.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	H	0.95079	3.62	0.80722	D	1	P	0.46277	0.875	P	0.55999	0.789	D	0.93489	0.6834	10	0.87932	D	0	-16.9033	20.2946	0.98546	0.0:1.0:0.0:0.0	.	1750	Q6P2Q9	PRP8_HUMAN	R	1750;275	ENSP00000304350:G1750R	ENSP00000304350:G1750R	G	-	1	0	PRPF8	1508698	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.818000	0.86416	2.804000	0.96469	0.462000	0.41574	GGG	PRPF8	-	NULL		0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	C			1561948	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1561948	C	G	1561948	3	3	32	1	0	0	0	0	1	0	0	0	12602	623	22	4	1803	4	PRPF8	17	1561948	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		1561948	79633262	156	4421										
SPNS3	201305	genome.wustl.edu	37	chr17	4389539	4389539	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gcagtctgtggtggtgcccaGatgccgggggacggcagagg	20	9	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:4389539G>C	ENST00000355530.2	+	10	1476	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T	RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA|SPNS3_ENST00000333476.2_Missense_Mutation_p.R272T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	399					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GTGGTGCCCAGATGCCGGGGG	0.632																																																	0													49	46	47					17																	4389539		2203	4300	6503	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1196G>C	17.37:g.4389539G>C	ENSP00000347721:p.Arg399Thr		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R399T	ENST00000355530.2	37	c.1196	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660769	0.47572	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59083	0.29;0.29	4.78	2.77	0.32553	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.377650	0.30076	N	0.010466	T	0.27134	0.0665	N	0.10760	0.04	0.36261	D	0.854526	B;B	0.11235	0.003;0.004	B;B	0.12156	0.004;0.007	T	0.26643	-1.0097	10	0.02654	T	1	-14.7457	5.494	0.16791	0.1857:0.1659:0.6484:0.0	.	272;399	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	T	399;272	ENSP00000347721:R399T;ENSP00000333207:R272T	ENSP00000333207:R272T	R	+	2	0	SPNS3	4336288	0.849000	0.29639	0.973000	0.42090	0.942000	0.58702	1.219000	0.32479	0.700000	0.31782	0.591000	0.81541	AGA	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	G	NM_182538		4389539	1	no_errors	ENST00000355530	ensembl	human	known	70_37	missense	SNP	0.959	C	C	4389539	G	C	4389539	3	2	32	1	0	0	0	0	1	0	0	0	15106	942	33	1	1234	1	SPNS3	17	4389539	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	2827591	4389539	76805671	157	4422										
AURKB	9212	genome.wustl.edu	37	chr17	8108585	8108585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gatgcactctcaaagggtggGttccccaccagcagctcata	10	13	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:8108585G>T	ENST00000585124.1	-	8	903	c.810C>A	c.(808-810)aaC>aaA	p.N270K	AURKB_ENST00000534871.1_Missense_Mutation_p.N229K|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.N271K|AURKB_ENST00000578549.1_Missense_Mutation_p.N238K	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						CAAAGGGTGGGTTCCCCACCA	0.592																																					NSCLC(134;1161 2470 43664 51568)												0													150	113	125					17																	8108585		2203	4300	6503	SO:0001583	missense	9212			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.810C>A	17.37:g.8108585G>T	ENSP00000463999:p.Asn270Lys		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	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.N270K	ENST00000585124.1	37	c.810	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	1.047	-0.677086	0.03378	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.62941	-0.01	5.33	3.23	0.37069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095204	0.64402	D	0.000001	T	0.21718	0.0523	N	0.00864	-1.135	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.32322	-0.9911	10	0.02654	T	1	-14.0658	4.6412	0.12550	0.1946:0.1813:0.6241:0.0	.	270;270	C7G533;Q96GD4	.;AURKB_HUMAN	K	270;229	ENSP00000443869:N229K	ENSP00000313950:N270K	N	-	3	2	AURKB	8049310	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	0.495000	0.22483	1.494000	0.48533	0.650000	0.86243	AAC	AURKB	-	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		0.592	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2	G	NM_004217		8108585	-1	no_errors	ENST00000585124	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8108585	G	T	8108585	3	4	32	1	0	0	0	0	1	0	0	0	1224	1252	44	4	232	4	AURKB	17	8108585	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	3719046	8108585	73086625	158	4423										
MYH2	4620	genome.wustl.edu	37	chr17	10426696	10426696	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agcctcagcattacgcttttGctcactctcaacctctcctt	4	16	4	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:10426696G>C	ENST00000245503.5	-	38	5890	c.5506C>G	c.(5506-5508)Caa>Gaa	p.Q1836E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1836E|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1836					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTACGCTTTTGCTCACTCTCA	0.473																																																	0													179	159	166					17																	10426696		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5506C>G	17.37:g.10426696G>C	ENSP00000245503:p.Gln1836Glu		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1836E	ENST00000245503.5	37	c.5506	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669256	0.88348	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.73258	-0.73;-0.73	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.37304	U	0.002155	D	0.86640	0.5981	H	0.95365	3.66	0.58432	D	0.999998	P	0.40578	0.722	P	0.50570	0.644	D	0.89084	0.3478	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1836	Q9UKX2	MYH2_HUMAN	E	1836	ENSP00000245503:Q1836E;ENSP00000380367:Q1836E	ENSP00000245503:Q1836E	Q	-	1	0	MYH2	10367421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	CAA	MYH2	-	pfam_Myosin_tail		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10426696	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10426696	G	C	10426696	3	2	32	1	0	0	0	0	1	0	0	0	10058	1328	46	4	331	4	MYH2	17	10426696	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	2318111	10426696	70768514	159	4424										
DNAH9	1770	genome.wustl.edu	37	chr17	11604523	11604523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aaggtgtaactgcctatgaaGaaaagccgagggagcagtgg	15	6	0	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:11604523G>A	ENST00000262442.4	+	24	5178	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1704K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1704	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTATGAAGAAAAGCCGAG	0.512																																																	0													155	142	146					17																	11604523		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5110G>A	17.37:g.11604523G>A	ENSP00000262442:p.Glu1704Lys		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1704K	ENST00000262442.4	37	c.5110	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376183	0.82682	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.26223	1.79;1.75	5.95	5.95	0.96441	.	0.190711	0.44688	N	0.000427	T	0.46112	0.1376	M	0.64567	1.98	0.80722	D	1	P	0.52061	0.95	P	0.55161	0.77	T	0.29397	-1.0013	10	0.72032	D	0.01	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1704	Q9NYC9	DYH9_HUMAN	K	1704;1704;286	ENSP00000262442:E1704K;ENSP00000414874:E1704K	ENSP00000262442:E1704K	E	+	1	0	DNAH9	11545248	1.000000	0.71417	0.999000	0.59377	0.137000	0.21094	9.173000	0.94815	2.824000	0.97209	0.655000	0.94253	GAA	DNAH9	-	NULL		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11604523	1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11604523	G	A	11604523	3	1	32	1	0	0	0	0	1	0	0	0	4618	943	33	1	5204	1	DNAH9	17	11604523	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1177827	11604523	69590687	160	4425										
MYO15A	51168	genome.wustl.edu	37	chr17	18052198	18052198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctggagctgctcagggacttCcctcgacagaagtcctactt	10	13	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:18052198C>T	ENST00000205890.5	+	33	7226	c.6888C>T	c.(6886-6888)ttC>ttT	p.F2296F	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2296	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGGGACTTCCCTCGACAGA	0.612																																																	0													23	26	25					17																	18052198		2028	4190	6218	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6888C>T	17.37:g.18052198C>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.F2296	ENST00000205890.5	37	c.6888	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18052198	1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18052198	C	T	18052198	2	4	32	1	0	0	0	0	0	0	0	1	10086	854	30	1		1	MYO15A	17	18052198	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	6447675	18052198	63143012	161	4426										
FLII	2314	genome.wustl.edu	37	chr17	18158564	18158564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aattcttcagactgttggctCgggccacgatggcctgggaa	13	10	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:18158564C>T	ENST00000327031.4	-	4	485	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	FLII_ENST00000379450.4_Missense_Mutation_p.R56Q|FLII_ENST00000578558.1_Missense_Mutation_p.R87Q|FLII_ENST00000545457.2_Missense_Mutation_p.R87Q|FLII_ENST00000579294.1_Missense_Mutation_p.R76Q|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	87	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.R87L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACTGTTGGCTCGGGCCACGAT	0.542																																																	1	Substitution - Missense(1)	lung(1)											127	135	132					17																	18158564		2203	4300	6503	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.260G>A	17.37:g.18158564C>T	ENSP00000324573:p.Arg87Gln		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.R87Q	ENST00000327031.4	37	c.260	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.906844	0.97093	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.37235	1.21;1.82;1.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.43554	1.36	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;P;D;D	0.71870	0.9;0.9;0.951;0.975	T	0.55224	-0.8174	10	0.72032	D	0.01	-6.6879	19.2349	0.93855	0.0:1.0:0.0:0.0	.	56;56;87;87	E7EPM0;B4DIL0;F5H407;Q13045	.;.;.;FLII_HUMAN	Q	87;87;56	ENSP00000324573:R87Q;ENSP00000438536:R87Q;ENSP00000368763:R56Q	ENSP00000324573:R87Q	R	-	2	0	FLII	18099289	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.709000	0.84645	2.571000	0.86741	0.561000	0.74099	CGA	FLII	-	NULL		0.542	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	C	NM_002018		18158564	-1	no_errors	ENST00000327031	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18158564	C	T	18158564	3	4	32	1	0	0	0	0	1	0	0	0	5943	884	31	1	3657	1	FLII	17	18158564	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	106366	18158564	63036646	162	4427										
ACACA	31	genome.wustl.edu	37	chr17	35562745	35562745	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tcaatatcacagtcagtcttGatagccacattgagaatgtg	8	8	4	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:35562745G>T	ENST00000394406.2	-	33	4069	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I	ACACA_ENST00000335166.5_Silent_p.I1215I|ACACA_ENST00000360679.3_Silent_p.I1235I|ACACA_ENST00000353139.5_Silent_p.I1330I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1293					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTCAGTCTTGATAGCCACAT	0.428																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													170	146	154					17																	35562745		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3879C>A	17.37:g.35562745G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I1330	ENST00000394406.2	37	c.3990	CCDS11317.1	17																																																																																			ACACA	-	pfam_AcCoA_COase_cen		0.428	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35562745	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35562745	G	T	35562745	2	4	32	1	0	0	0	0	0	0	0	1	106	1280	45	3		3	ACACA	17	35562745	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	17404181	35562745	45632465	163	4428										
C17orf37	84299	genome.wustl.edu	37	chr17	37885784	37885784	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gtcctgtgcagtcacaggatGacgcagggaggacggctgtt	16	9	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:37885784G>T	ENST00000394231.3	-	4	630	c.339C>A	c.(337-339)gtC>gtA	p.V113V	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_3'UTR|MIEN1_ENST00000474210.1_5'UTR|MIR4728_ENST00000580969.1_RNA			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	113					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										GTCACAGGATGACGCAGGGAG	0.557																																																	0													212	198	203					17																	37885784		2203	4300	6503	SO:0001819	synonymous_variant	84299			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"chromosome 17 open reading frame 37"	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.339C>A	17.37:g.37885784G>T				Silent	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.V113	ENST00000394231.3	37	c.339	CCDS11344.1	17																																																																																			MIEN1	-	NULL		0.557	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3	G	NM_032339		37885784	-1	no_errors	ENST00000394231	ensembl	human	known	70_37	silent	SNP	0.999	T	T	37885784	G	T	37885784	2	4	32	1	0	0	0	0	0	0	0	1	1858	1277	45	3		3	C17orf37	17	37885784	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	2323039	37885784	43309426	164	4429										
COASY	80347	genome.wustl.edu	37	chr17	40716556	40716556	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aaagtcagctcctccagcttCcgccagcgaatgttggggaa	11	12	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:40716556C>T	ENST00000393818.2	+	3	1464	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Silent_p.F336F|COASY_ENST00000590958.1_Silent_p.F365F|COASY_ENST00000449624.1_Silent_p.F41F|MLX_ENST00000246912.4_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Silent_p.F336F|MLX_ENST00000346833.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	336	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCTCCAGCTTCCGCCAGCGAA	0.547																																																	0													60	61	61					17																	40716556		2203	4300	6503	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1008C>T	17.37:g.40716556C>T			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.F365	ENST00000393818.2	37	c.1095	CCDS11429.1	17																																																																																			COASY	-	pfam_Cytidylyltransf		0.547	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40716556	1	no_errors	ENST00000590958	ensembl	human	known	70_37	silent	SNP	0.550	T	T	40716556	C	T	40716556	2	4	32	1	0	0	0	0	0	0	0	1	3657	854	30	1		1	COASY	17	40716556	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2830772	40716556	40478654	165	4430										
WFIKKN2	124857	genome.wustl.edu	37	chr17	48916923	48916923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ccaagagctgcgtggcggccCgctacatggacgtgaaaggg	16	11	0	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:48916923C>T	ENST00000311378.4	+	2	802	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_5'UTR	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	92	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGTGGCGGCCCGCTACATGGA	0.577																																																	0													48	49	48					17																	48916923		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.274C>T	17.37:g.48916923C>T	ENSP00000311184:p.Arg92Cys		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.R92C	ENST00000311378.4	37	c.274	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551523	0.86127	.	.	ENSG00000173714	ENST00000311378	D	0.84298	-1.83	5.53	5.53	0.82687	Whey acidic protein, 4-disulphide core (3);	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92682	0.6159	10	0.87932	D	0	.	19.4998	0.95089	0.0:1.0:0.0:0.0	.	92	Q8TEU8	WFKN2_HUMAN	C	92	ENSP00000311184:R92C	ENSP00000311184:R92C	R	+	1	0	WFIKKN2	46271922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.741000	0.62095	2.593000	0.87608	0.645000	0.84053	CGC	WFIKKN2	-	superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core		0.577	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	C	NM_175575		48916923	1	no_errors	ENST00000311378	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48916923	C	T	48916923	3	4	32	1	0	0	0	0	1	0	0	0	17390	652	23	2	280	2	WFIKKN2	17	48916923	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	8200367	48916923	32278287	166	4431										
CCDC47	57003	genome.wustl.edu	37	chr17	61842130	61842130	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gttattgggtctttatttttGctagaagaagtatctggttt	10	3	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:61842130G>C	ENST00000225726.5	-	3	724	c.342C>G	c.(340-342)agC>agG	p.S114R	CCDC47_ENST00000582252.1_Missense_Mutation_p.S114R|CCDC47_ENST00000403162.3_Missense_Mutation_p.S114R	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	114					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CTTTATTTTTGCTAGAAGAAG	0.358																																																	0													215	188	197					17																	61842130		2201	4299	6500	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.342C>G	17.37:g.61842130G>C	ENSP00000225726:p.Ser114Arg		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.S114R	ENST00000225726.5	37	c.342	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169830	0.38315	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.49	4.5	0.54988	.	0.278864	0.48286	D	0.000184	T	0.45276	0.1334	L	0.29908	0.895	0.44500	D	0.997445	B;B	0.25048	0.039;0.117	B;B	0.29598	0.064;0.104	T	0.26467	-1.0102	9	0.21014	T	0.42	-6.1314	13.5279	0.61605	0.077:0.0:0.923:0.0	.	114;114	Q96A33-2;Q96A33	.;CCD47_HUMAN	R	114	.	ENSP00000225726:S114R	S	-	3	2	CCDC47	59195862	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.800000	0.47900	2.859000	0.98148	0.591000	0.81541	AGC	CCDC47	-	NULL		0.358	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	G	NM_020198		61842130	-1	no_errors	ENST00000225726	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61842130	G	C	61842130	3	2	32	1	0	0	0	0	1	0	0	0	2823	1310	46	4	1153	4	CCDC47	17	61842130	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	12925207	61842130	19353080	167	4432										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62859084	62859084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gactgtcttgcagacagcctCaatgctgtttttaaattggc	9	9	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:62859084C>T	ENST00000584306.1	-	10	3636	c.3106G>A	c.(3106-3108)Gag>Aag	p.E1036K	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E154K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E13K|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1036K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E74K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1036						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAGACAGCCTCAATGCTGTTT	0.428																																																	0													132	147	141					17																	62859084		1495	2670	4165	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3106G>A	17.37:g.62859084C>T	ENSP00000464535:p.Glu1036Lys		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E1036K	ENST00000584306.1	37	c.3106	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	11.03	1.519271	0.27211	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.64803	0.51;-0.12;-0.01	2.57	2.57	0.30868	.	.	.	.	.	T	0.74989	0.3789	M	0.71036	2.16	0.20196	N	0.999923	D;B	0.89917	1.0;0.139	D;B	0.91635	0.999;0.101	T	0.60835	-0.7184	9	0.87932	D	0	.	8.7083	0.34367	0.0:1.0:0.0:0.0	.	154;1036	B4DG20;O60309	.;L37A3_HUMAN	K	117;74;13;1036	ENSP00000383674:E74K;ENSP00000335617:E13K;ENSP00000325713:E1036K	ENSP00000325713:E1036K	E	-	1	0	LRRC37A3	60289546	0.998000	0.40836	0.947000	0.38551	0.831000	0.47069	3.074000	0.50065	1.435000	0.47434	0.298000	0.19748	GAG	LRRC37A3	-	NULL		0.428	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62859084	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.964	T	T	62859084	C	T	62859084	3	4	32	1	0	0	0	0	1	0	0	0	9016	835	29	1	1818	1	LRRC37A3	17	62859084	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1016954	62859084	18336126	168	4433										
WDR45L	56270	genome.wustl.edu	37	chr17	80573806	80573806	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cagctggagtcacagcttgtCatcggtcatctctagaaact	9	11	4	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:80573806C>T	ENST00000392325.4	-	10	1218	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	WDR45B_ENST00000571835.1_5'Flank	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	342																	CACAGCTTGTCATCGGTCATC	0.617																																																	0													94	84	88					17																	80573806		2203	4300	6503	SO:0001583	missense	56270			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.1024G>A	17.37:g.80573806C>T	ENSP00000376139:p.Asp342Asn		O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D342N	ENST00000392325.4	37	c.1024	CCDS11815.2	17	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454973	0.63290	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.78595	-1.19	4.74	4.74	0.60224	.	0.049717	0.85682	D	0.000000	T	0.74558	0.3732	L	0.52126	1.63	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.71553	-0.4558	10	0.45353	T	0.12	-32.9382	18.0853	0.89455	0.0:1.0:0.0:0.0	.	342	Q5MNZ6	WIPI3_HUMAN	N	342;314	ENSP00000376139:D342N	ENSP00000376139:D342N	D	-	1	0	WDR45L	78167095	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	7.290000	0.78711	2.329000	0.79093	0.561000	0.74099	GAC	WDR45L	-	NULL		0.617	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR45L	HGNC	protein_coding	OTTHUMT00000316536.1	C	NM_019613		80573806	-1	no_errors	ENST00000392325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80573806	C	T	80573806	3	4	32	1	0	0	0	0	1	0	0	0	17329	826	29	1	14	1	WDR45L	17	80573806	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	17714722	80573806	621404	169	4434										
TXNDC2	84203	genome.wustl.edu	37	chr18	9886830	9886830	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atccagcccaaggagggtgaCatccccaaggccccagaaga	11	14	0	3			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr18:9886830C>G	ENST00000306084.6	+	2	553	c.354C>G	c.(352-354)gaC>gaG	p.D118E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.D51E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.D51E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	118	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGGTGACATCCCCAAGG	0.547																																																	0													164	124	138					18																	9886830		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.354C>G	18.37:g.9886830C>G	ENSP00000304908:p.Asp118Glu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.D118E	ENST00000306084.6	37	c.354	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	c	14.24	2.475305	0.43942	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.21734	1.99;2.34;2.34	3.99	-1.98	0.07480	.	1.102190	0.07202	N	0.857691	T	0.10852	0.0265	N	0.19112	0.55	0.09310	N	1	P	0.34934	0.476	B	0.32393	0.145	T	0.29150	-1.0021	9	.	.	.	-2.5794	5.2628	0.15584	0.0:0.4681:0.1402:0.3916	.	118	Q86VQ3	TXND2_HUMAN	E	51;51;118;118	ENSP00000437393:D51E;ENSP00000350419:D51E;ENSP00000304908:D118E	.	D	+	3	2	TXNDC2	9876830	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.161000	0.00577	-0.544000	0.06232	-0.478000	0.04885	GAC	TXNDC2	-	pfam_Glutenin		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886830	1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.000	G	G	9886830	C	G	9886830	3	3	32	1	0	0	0	0	1	0	0	0	16828	477	17	4	360	4	TXNDC2	18	9886830	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		9886830	68190418	170	4435										
VPS4B	9525	genome.wustl.edu	37	chr18	61058250	61058250	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tctgtaaacttctttaatttCaacaagtcatgttcattgac	4	8	5	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr18:61058250C>A	ENST00000238497.5	-	11	1496	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	431					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCTTTAATTTCAACAAGTCAT	0.353																																																	0													126	121	123					18																	61058250		2203	4300	6503	SO:0001583	missense	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1293G>T	18.37:g.61058250C>A	ENSP00000238497:p.Leu431Phe		Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.L431F	ENST00000238497.5	37	c.1293	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602057	0.46423	.	.	ENSG00000119541	ENST00000238497	D	0.94828	-3.53	5.78	2.03	0.26663	Vps4 oligomerisation, C-terminal (1);	0.446678	0.23302	N	0.049676	D	0.90669	0.7073	L	0.42245	1.32	0.80722	D	1	B	0.27853	0.191	B	0.31245	0.126	D	0.87556	0.2468	10	0.66056	D	0.02	-11.0558	9.132	0.36850	0.0:0.603:0.0:0.397	.	431	O75351	VPS4B_HUMAN	F	431	ENSP00000238497:L431F	ENSP00000238497:L431F	L	-	3	2	VPS4B	59209230	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.315000	0.19451	0.801000	0.34066	0.655000	0.94253	TTG	VPS4B	-	pfam_Vps4_C		0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	C	NM_004869		61058250	-1	no_errors	ENST00000238497	ensembl	human	known	70_37	missense	SNP	0.999	A	A	61058250	C	A	61058250	3	1	32	1	0	0	0	0	1	0	0	0	17244	825	29	3	45	3	VPS4B	18	61058250	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	51171420	61058250	17018998	171	4436										
DSEL	92126	genome.wustl.edu	37	chr18	65179061	65179061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ttgcaaatgtaattttgtgtCctggactaaagactgcaacc	8	8	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr18:65179061C>T	ENST00000310045.7	-	2	4288	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	929					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATTTTGTGTCCTGGACTAAA	0.398																																																	0													69	72	71					18																	65179061		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2815G>A	18.37:g.65179061C>T	ENSP00000310565:p.Asp939Asn		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.D939N	ENST00000310045.7	37	c.2815	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012123	0.35511	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18657	2.2	4.99	4.99	0.66335	Sulfotransferase domain (1);	0.115197	0.64402	U	0.000019	T	0.11707	0.0285	N	0.16098	0.37	0.40286	D	0.978457	B	0.13594	0.008	B	0.20184	0.028	T	0.13282	-1.0515	10	0.10111	T	0.7	-18.2333	11.7781	0.51997	0.0:0.9191:0.0:0.0809	.	929	Q8IZU8	DSEL_HUMAN	N	939;929	ENSP00000310565:D939N	ENSP00000310565:D939N	D	-	1	0	DSEL	63330041	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.718000	0.61930	2.321000	0.78463	0.558000	0.71614	GAC	DSEL	-	pfam_Sulfotransferase_dom		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65179061	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65179061	C	T	65179061	3	4	32	1	0	0	0	0	1	0	0	0	4785	855	30	1	857	1	DSEL	18	65179061	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	4120811	65179061	12898187	172	4437										
ELANE	1991	genome.wustl.edu	37	chr19	855661	855661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ggtgcagtgcctggccatggGctggggccttctgggcagga	19	10	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:855661G>C	ENST00000590230.1	+	5	605	c.464G>C	c.(463-465)gGc>gCc	p.G155A	ELANE_ENST00000263621.1_Missense_Mutation_p.G155A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGGCCATGGGCTGGGGCCTT	0.687																																																	0													66	61	62					19																	855661		2203	4298	6501	SO:0001583	missense	1991				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.464G>C	19.37:g.855661G>C	ENSP00000466090:p.Gly155Ala		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G155A	ENST00000590230.1	37	c.464	CCDS12045.1	19	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651096	0.67472	.	.	ENSG00000197561	ENST00000263621	D	0.99532	-6.1	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38959	U	0.001512	D	0.99782	0.9909	H	0.98487	4.245	0.43846	D	0.996438	D	0.89917	1.0	D	0.97110	1.0	D	0.96946	0.9691	10	0.87932	D	0	.	12.8831	0.58028	0.0:0.0:1.0:0.0	.	155	P08246	ELNE_HUMAN	A	155	ENSP00000263621:G155A	ENSP00000263621:G155A	G	+	2	0	ELANE	806661	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	4.965000	0.63708	2.189000	0.69895	0.462000	0.41574	GGC	ELANE	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.687	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	HGNC	protein_coding	OTTHUMT00000457890.2	G	NM_001972		855661	1	no_errors	ENST00000263621	ensembl	human	known	70_37	missense	SNP	1.000	C	C	855661	G	C	855661	3	2	32	1	0	0	0	0	1	0	0	0	5060	1203	42	4	478	4	ELANE	19	855661	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09		855661	58273322	173	4438										
PCSK4	54760	genome.wustl.edu	37	chr19	1487842	1487842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cgggtcgtagtcattgaagtCatagctggccagggggtcct	15	9	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:1487842C>T	ENST00000300954.5	-	5	596	c.535G>A	c.(535-537)Gac>Aac	p.D179N	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATTGAAGTCATAGCTGGCC	0.697																																																	0													12	14	14					19																	1487842		2156	4259	6415	SO:0001583	missense	54760			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.535G>A	19.37:g.1487842C>T	ENSP00000300954:p.Asp179Asn			Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.D179N	ENST00000300954.5	37	c.535	CCDS12069.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.696088|2.696088	0.48202|0.48202	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000300954|ENST00000441747	D|.	0.87809|.	-2.3|.	2.09|2.09	2.09|2.09	0.27110|0.27110	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);|.	0.000000|.	0.47455|.	D|.	0.000227|.	T|T	0.61726|0.61726	0.2370|0.2370	M|M	0.77616|0.77616	2.38|2.38	0.51233|0.51233	D|D	0.999917|0.999917	D|B	0.89917|0.16396	1.0|0.017	D|B	0.74674|0.20184	0.984|0.028	T|T	0.65738|0.65738	-0.6095|-0.6095	10|8	0.87932|0.48119	D|T	0|0.1	.|.	11.7328|11.7328	0.51748|0.51748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	179|20	Q6UW60|B3KQ28	PCSK4_HUMAN|.	N|I	179|20	ENSP00000300954:D179N|.	ENSP00000300954:D179N|ENSP00000402772:M20I	D|M	-|-	1|3	0|0	PCSK4|PCSK4	1438842|1438842	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.709000|0.709000	0.40893|0.40893	7.459000|7.459000	0.80802|0.80802	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GAC|ATG	PCSK4	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.697	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	C	NM_017573		1487842	-1	no_errors	ENST00000300954	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1487842	C	T	1487842	3	4	32	1	0	0	0	0	1	0	0	0	11626	826	29	1	1776	1	PCSK4	19	1487842	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	632181	1487842	57641141	174	4439										
TCF3	6929	genome.wustl.edu	37	chr19	1623966	1623966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tcaccgaggatggaagacccGgcgggaccttccggaccttc	13	14	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:1623966G>A	ENST00000262965.5	-	8	877	c.533C>T	c.(532-534)cCg>cTg	p.P178L	TCF3_ENST00000395423.3_Missense_Mutation_p.P127L|TCF3_ENST00000588136.1_Missense_Mutation_p.P178L|TCF3_ENST00000453954.2_Missense_Mutation_p.P94L|TCF3_ENST00000344749.5_Missense_Mutation_p.P178L	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAGACCCGGCGGGACCTT	0.632			T	"PBX1, HLF, TFPT"	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													56	58	57					19																	1623966		2202	4300	6502	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.533C>T	19.37:g.1623966G>A	ENSP00000262965:p.Pro178Leu		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P178L	ENST00000262965.5	37	c.533	CCDS12074.1	19	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714255	0.68730	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.62639	0.01;0.01;0.01	4.12	4.12	0.48240	.	0.000000	0.64402	D	0.000006	T	0.79969	0.4538	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.992	D	0.83710	0.0187	10	0.87932	D	0	0.8624	13.1168	0.59305	0.0:0.0:1.0:0.0	.	178;178;127	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	L	178;178;178;127	ENSP00000262965:P178L;ENSP00000344375:P178L;ENSP00000378813:P127L	ENSP00000262965:P178L	P	-	2	0	TCF3	1574966	1.000000	0.71417	0.906000	0.35671	0.639000	0.38242	7.738000	0.84966	1.853000	0.53794	0.313000	0.20887	CCG	TCF3	-	NULL		0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449367.1	G	NM_003200		1623966	-1	no_errors	ENST00000262965	ensembl	human	known	70_37	missense	SNP	0.995	A	A	1623966	G	A	1623966	3	1	32	1	0	0	0	0	1	0	0	0	15724	1116	39	2	1710	2	TCF3	19	1623966	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	136124	1623966	57505017	175	4440										
DOT1L	84444	genome.wustl.edu	37	chr19	2226747	2226747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	accccactgctgagcggcaaGgccgccaaggcccgggaccg	14	17	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:2226747G>T	ENST00000398665.3	+	27	4263	c.4227G>T	c.(4225-4227)aaG>aaT	p.K1409N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1409					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCGGCAAGGCCGCCAAGG	0.721																																																	0													10	16	14					19																	2226747		1994	4125	6119	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4227G>T	19.37:g.2226747G>T	ENSP00000381657:p.Lys1409Asn		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.K1409N	ENST00000398665.3	37	c.4227	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866908	0.72065	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.37411	1.62;1.2	4.53	4.53	0.55603	.	0.123293	0.36482	N	0.002567	T	0.45357	0.1338	L	0.56769	1.78	0.29463	N	0.857647	B;P	0.44429	0.244;0.835	B;P	0.47645	0.051;0.553	T	0.51671	-0.8676	10	0.87932	D	0	-19.4133	16.2544	0.82505	0.0:0.0:1.0:0.0	.	1409;1409	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1409;1409;289	ENSP00000381657:K1409N;ENSP00000407411:K289N	ENSP00000221482:K1409N	K	+	3	2	DOT1L	2177747	1.000000	0.71417	0.018000	0.16275	0.382000	0.30200	4.341000	0.59335	2.075000	0.62263	0.561000	0.74099	AAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.721	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2226747	1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	0.921	T	T	2226747	G	T	2226747	3	4	32	1	0	0	0	0	1	0	0	0	4719	991	35	4	4333	4	DOT1L	19	2226747	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	602781	2226747	56902236	176	4441										
SLC39A3	29985	genome.wustl.edu	37	chr19	2733271	2733271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	acgtacagcgcgtggccccgCgcgccccccatgaaggggct	14	17	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:2733271C>T	ENST00000269740.4	-	3	752	c.423G>A	c.(421-423)gcG>gcA	p.A141A	SLC39A3_ENST00000545664.1_Silent_p.A141A|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	141					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGCCCCGCGCGCCCCCCA	0.711																																																	0													23	25	24					19																	2733271		2199	4290	6489	SO:0001819	synonymous_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.423G>A	19.37:g.2733271C>T			B3KMJ3|Q8WUG1	Silent	SNP	pfam_ZIP	p.A141	ENST00000269740.4	37	c.423	CCDS12093.1	19																																																																																			SLC39A3	-	pfam_ZIP		0.711	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	C			2733271	-1	no_errors	ENST00000269740	ensembl	human	known	70_37	silent	SNP	0.000	T	T	2733271	C	T	2733271	2	4	32	1	0	0	0	0	0	0	0	1	14649	755	27	2		2	SLC39A3	19	2733271	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	506524	2733271	56395712	177	4442										
PLIN4	729359	genome.wustl.edu	37	chr19	4512512	4512512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cagactttgtagtgtccaggCcgccctggacggcccctttg	12	14	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:4512512C>A	ENST00000301286.3	-	3	1417	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	473	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTGTCCAGGCCGCCCTGGAC	0.607																																																	0													102	114	110					19																	4512512		1958	4143	6101	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1418G>T	19.37:g.4512512C>A	ENSP00000301286:p.Gly473Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.G473V	ENST00000301286.3	37	c.1418	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776746	0.49786	.	.	ENSG00000167676	ENST00000301286	T	0.15603	2.41	5.23	5.23	0.72850	.	0.244644	0.28683	N	0.014500	T	0.45895	0.1365	M	0.87547	2.89	0.19575	N	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.45116	-0.9283	10	0.62326	D	0.03	-33.8924	12.1296	0.53936	0.0:0.8269:0.1731:0.0	.	473	Q96Q06	PLIN4_HUMAN	V	473	ENSP00000301286:G473V	ENSP00000301286:G473V	G	-	2	0	PLIN4	4463512	0.016000	0.18221	0.006000	0.13384	0.001000	0.01503	1.755000	0.38379	2.459000	0.83118	0.549000	0.68633	GGC	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4512512	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.008	A	A	4512512	C	A	4512512	3	1	32	1	0	0	0	0	1	0	0	0	12116	739	26	4	2671	4	PLIN4	19	4512512	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1779241	4512512	54616471	178	4443										
UHRF1	29128	genome.wustl.edu	37	chr19	4945950	4945950	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gacggagcgtactccctagtCctggcggggggctatgagga	17	10	0	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:4945950C>A	ENST00000592666.1	+	0	1959							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACTCCCTAGTCCTGGCGGGGG	0.572																																																	0													22	28	26					19																	4945950		1967	4137	6104			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4945950C>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-		0.572	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	C	NM_001048201		4945950	1	no_errors	ENST00000262952	ensembl	human	known	70_37	rna	SNP	0.545	A	A	4945950	C	A	4945950	1	1	32	0	1	0	0	0	0	0	0	0	16998	842	30	3		3	UHRF1	19	4945950	RNA	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	433438	4945950	54183033	179	4444										
VAV1	7409	genome.wustl.edu	37	chr19	6821677	6821677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tcctggaccccgatcgcccaGaacagggggatcatgtgagt	13	12	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:6821677G>C	ENST00000602142.1	+	3	448	c.366G>C	c.(364-366)caG>caC	p.Q122H	VAV1_ENST00000596764.1_Missense_Mutation_p.Q122H|VAV1_ENST00000304076.2_Missense_Mutation_p.Q122H|VAV1_ENST00000539284.1_Missense_Mutation_p.Q57H|VAV1_ENST00000599806.1_Missense_Mutation_p.Q67H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	122					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGATCGCCCAGAACAGGGGGA	0.637																																																	0													82	72	75					19																	6821677		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.366G>C	19.37:g.6821677G>C	ENSP00000472929:p.Gln122His		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.Q122H	ENST00000602142.1	37	c.366	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923228	0.52653	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.35236	1.32;1.32	4.34	4.34	0.51931	Calponin homology domain (2);	0.449392	0.21696	N	0.070494	T	0.49779	0.1577	L	0.49126	1.545	0.37280	D	0.90777	D;D;B;D	0.67145	0.995;0.981;0.225;0.996	P;P;B;P	0.60886	0.855;0.635;0.087;0.88	T	0.56432	-0.7980	10	0.51188	T	0.08	.	14.377	0.66884	0.0:0.0:1.0:0.0	.	57;122;67;122	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	H	122;57	ENSP00000302269:Q122H;ENSP00000443242:Q57H	ENSP00000302269:Q122H	Q	+	3	2	VAV1	6772677	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.209000	0.42806	2.256000	0.74724	0.561000	0.74099	CAG	VAV1	-	superfamily_CH-domain		0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	G			6821677	1	no_errors	ENST00000602142	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6821677	G	C	6821677	3	2	32	1	0	0	0	0	1	0	0	0	17162	933	33	1	376	1	VAV1	19	6821677	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1875727	6821677	52307306	180	4445										
ZNF557	79230	genome.wustl.edu	37	chr19	7081464	7081464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aattctctcaggtacctgtcCaggtgagcaccaggtggata	11	10	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:7081464C>T	ENST00000439035.2	+	6	560	c.320C>T	c.(319-321)cCa>cTa	p.P107L	ZNF557_ENST00000414706.1_Missense_Mutation_p.P114L|ZNF557_ENST00000252840.6_Missense_Mutation_p.P114L			Q8N988	ZN557_HUMAN	zinc finger protein 557	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGTACCTGTCCAGGTGAGCAC	0.458																																																	0													54	56	55					19																	7081464		2199	4300	6499	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.320C>T	19.37:g.7081464C>T	ENSP00000398965:p.Pro107Leu		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P114L	ENST00000439035.2	37	c.341	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029694	0.19512	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.08370	3.11;3.11;3.1	1.05	1.05	0.20165	Krueppel-associated box (1);	.	.	.	.	T	0.05547	0.0146	L	0.38692	1.165	0.32901	D	0.51317	B;P	0.34934	0.049;0.476	B;B	0.30495	0.003;0.116	T	0.31251	-0.9950	9	0.25751	T	0.34	.	5.4596	0.16610	0.0:1.0:0.0:0.0	.	107;114	Q8N988;Q8N988-2	ZN557_HUMAN;.	L	114;114;107	ENSP00000252840:P114L;ENSP00000404065:P114L;ENSP00000398965:P107L	ENSP00000252840:P114L	P	+	2	0	ZNF557	7032464	0.668000	0.27493	0.621000	0.29145	0.137000	0.21094	0.827000	0.27421	0.877000	0.35895	0.305000	0.20034	CCA	ZNF557	-	pfscan_Krueppel-associated_box		0.458	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	C	NM_024341		7081464	1	no_errors	ENST00000252840	ensembl	human	known	70_37	missense	SNP	0.652	T	T	7081464	C	T	7081464	3	4	32	1	0	0	0	0	1	0	0	0	18018	594	21	4	355	4	ZNF557	19	7081464	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	259787	7081464	52047519	181	4446										
MYO1F	4542	genome.wustl.edu	37	chr19	8587697	8587697	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cctctggcagaggggggcacCccattgcgatccatgcctgt	13	14	1	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:8587697C>A	ENST00000338257.8	-	26	3138	c.2871G>T	c.(2869-2871)ggG>ggT	p.G957G		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	957					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGGGGGCACCCCATTGCGAT	0.627																																																	0													6	8	8					19																	8587697		1867	4021	5888	SO:0001819	synonymous_variant	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2871G>T	19.37:g.8587697C>A			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.G957	ENST00000338257.8	37	c.2871	CCDS42494.1	19																																																																																			MYO1F	-	NULL		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	C			8587697	-1	no_errors	ENST00000338257	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8587697	C	A	8587697	2	1	32	1	0	0	0	0	0	0	0	1	10096	610	22	4		4	MYO1F	19	8587697	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1506233	8587697	50541286	182	4447										
SYDE1	85360	genome.wustl.edu	37	chr19	15222450	15222450	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cctgtgttcacaggcatcctCaaggattatcttcgagagtt	9	10	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:15222450C>G	ENST00000342784.2	+	6	1456	c.1425C>G	c.(1423-1425)ctC>ctG	p.L475L	SYDE1_ENST00000600252.1_Silent_p.L132L|SYDE1_ENST00000600440.1_Silent_p.L408L	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	475	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CAGGCATCCTCAAGGATTATC	0.592																																																	0													78	75	76					19																	15222450		2203	4300	6503	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1425C>G	19.37:g.15222450C>G			Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L475	ENST00000342784.2	37	c.1425	CCDS12324.1	19																																																																																			SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.592	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15222450	1	no_errors	ENST00000342784	ensembl	human	known	70_37	silent	SNP	1.000	G	G	15222450	C	G	15222450	2	3	32	1	0	0	0	0	0	0	0	1	15465	813	29	1		1	SYDE1	19	15222450	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	6634753	15222450	43906533	183	4448										
CPAMD8	27151	genome.wustl.edu	37	chr19	17086050	17086050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ggaatcagaaacatcataatCttccagttcctggaaaacct	6	10	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:17086050C>T	ENST00000443236.1	-	17	2099	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D429N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	643						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACATCATAATCTTCCAGTTCC	0.552																																																	0													38	39	38					19																	17086050		2035	4180	6215	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2068G>A	19.37:g.17086050C>T	ENSP00000402505:p.Asp690Asn		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.D690N	ENST00000443236.1	37	c.2068	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197025	0.58126	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T	0.56941	0.43	2.78	2.78	0.32641	.	0.274685	0.28544	U	0.014968	T	0.42787	0.1218	L	0.47716	1.5	0.34951	D	0.751266	P	0.34462	0.454	B	0.32677	0.15	T	0.53034	-0.8495	10	0.19147	T	0.46	.	13.8159	0.63292	0.0:1.0:0.0:0.0	.	643	Q8IZJ3	CPMD8_HUMAN	N	690;429	ENSP00000373577:D429N	ENSP00000291440:D690N	D	-	1	0	CPAMD8	16947050	1.000000	0.71417	0.593000	0.28771	0.725000	0.41563	4.778000	0.62368	1.285000	0.44548	0.555000	0.69702	GAT	CPAMD8	-	NULL		0.552	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	C	NM_015692		17086050	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17086050	C	T	17086050	3	4	32	1	0	0	0	0	1	0	0	0	3800	913	32	1	3834	1	CPAMD8	19	17086050	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1863600	17086050	42042933	184	4449										
PDE4C	5143	genome.wustl.edu	37	chr19	18322662	18322662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tctccctgctggaagaactcGgccatgatgcggtccgtcca	11	14	1	2	rs373284282		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:18322662G>A	ENST00000355502.3	-	18	2569	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	PDE4C_ENST00000262805.12_Silent_p.A534A|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Silent_p.A281A|PDE4C_ENST00000594617.3_Silent_p.A566A|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594465.3_Silent_p.A566A|PDE4C_ENST00000447275.3_Silent_p.A460A|PDE4C_ENST00000539010.1_Silent_p.A335A|PDE4C_ENST00000597297.1_Silent_p.A336A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	566					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGAAGAACTCGGCCATGATGC	0.607																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	106	86	93		1698,1602,1380	-9.7	0.4	19		93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4C	NM_000923.4,NM_001098818.2,NM_001098819.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	566/713,534/681,460/607	18322662	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1698C>T	19.37:g.18322662G>A			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A566	ENST00000355502.3	37	c.1698	CCDS12373.1	19																																																																																			PDE4C	-	pfam_PDEase_catalytic_dom,prints_PDEase		0.607	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	G			18322662	-1	no_errors	ENST00000355502	ensembl	human	known	70_37	silent	SNP	0.795	A	A	18322662	G	A	18322662	2	1	32	1	0	0	0	0	0	0	0	1	11665	1103	39	2		2	PDE4C	19	18322662	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	1236612	18322662	40806321	185	4450										
SPINT2	10653	genome.wustl.edu	37	chr19	38780921	38780921	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgcatgctccgctgcttccGtaagtctgcagcccctcagc	9	17	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:38780921G>T	ENST00000301244.7	+	5	988		c.e5+1		SPINT2_ENST00000454580.3_Splice_Site|SPINT2_ENST00000587090.1_Splice_Site|CTB-102L5.4_ENST00000591889.1_Splice_Site	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2						cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGCTGCTTCCGTAAGTCTGCA	0.572																																																	0													34	36	35					19																	38780921		2203	4300	6503	SO:0001630	splice_region_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.553+1G>T	19.37:g.38780921G>T			A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Splice_Site	SNP	-	e5+1	ENST00000301244.7	37	c.553+1	CCDS12510.1	19	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861451	0.32884	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6945	0.69110	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPINT2	43472761	1.000000	0.71417	0.909000	0.35828	0.122000	0.20287	7.308000	0.78929	2.620000	0.88729	0.655000	0.94253	.	SPINT2	-	-		0.572	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT2	HGNC	protein_coding	OTTHUMT00000458151.2	G		Intron	38780921	1	no_errors	ENST00000301244	ensembl	human	known	70_37	splice_site	SNP	0.996	T	T	38780921	G	T	38780921	5	4	32	1	0	0	0	0	0	0	1	0	15099	1159	40	2	572	2	SPINT2	19	38780921	Splice_Site	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	20458259	38780921	20348062	186	4451										
DMPK	1760	genome.wustl.edu	37	chr19	46280784	46280784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tctccgggggacacagcaacCgctgaatgaagtctcgagcc	12	13	2	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:46280784C>T	ENST00000291270.4	-	8	1072	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	DMPK_ENST00000343373.4_Missense_Mutation_p.R326Q|DMPK_ENST00000447742.2_Missense_Mutation_p.R316Q|DMPK_ENST00000458663.2_Missense_Mutation_p.R316Q|DMPK_ENST00000354227.5_Missense_Mutation_p.R316Q|DMPK_ENST00000600757.1_Missense_Mutation_p.R326Q|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		ACACAGCAACCGCTGAATGAA	0.652																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0													40	44	42					19																	46280784		2203	4300	6503	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.947G>A	19.37:g.46280784C>T	ENSP00000291270:p.Arg316Gln		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.R326Q	ENST00000291270.4	37	c.977	CCDS12674.1	19	.	.	.	.	.	.	.	.	.	.	c	7.279	0.608745	0.14066	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.63	-1.35	0.09114	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.709289	0.12112	N	0.498401	T	0.39835	0.1093	L	0.31420	0.93	0.09310	N	1	B;B;B;B;B;B;B;B	0.26708	0.049;0.011;0.157;0.021;0.021;0.066;0.004;0.004	B;B;B;B;B;B;B;B	0.15870	0.014;0.001;0.002;0.006;0.005;0.003;0.003;0.002	T	0.15752	-1.0426	10	0.20519	T	0.43	.	5.4787	0.16710	0.0:0.5018:0.1407:0.3575	.	316;316;342;316;316;316;363;326	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	Q	316;342;316;316;316;326;326;316	ENSP00000401753:R316Q;ENSP00000291270:R316Q;ENSP00000413417:R316Q;ENSP00000345997:R326Q;ENSP00000346168:R316Q	ENSP00000291270:R316Q	R	-	2	0	DMPK	50972624	0.001000	0.12720	0.411000	0.26484	0.222000	0.24845	1.494000	0.35616	0.001000	0.14605	-0.254000	0.11334	CGG	DMPK	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.652	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	C	NM_004409		46280784	-1	no_errors	ENST00000343373	ensembl	human	known	70_37	missense	SNP	0.083	T	T	46280784	C	T	46280784	3	4	32	1	0	0	0	0	1	0	0	0	4594	652	23	2	981	2	DMPK	19	46280784	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	7499863	46280784	12848199	187	4452										
RASIP1	54922	genome.wustl.edu	37	chr19	49225250	49225250	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	tggtcggttcttaggctgctCcatgaagcctggtgggaaga	15	8	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:49225250C>T	ENST00000222145.4	-	11	2757	c.2553G>A	c.(2551-2553)tgG>tgA	p.W851*	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000377367.3_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	851	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TTAGGCTGCTCCATGAAGCCT	0.612																																																	0													57	56	56					19																	49225250		2203	4300	6503	SO:0001587	stop_gained	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2553G>A	19.37:g.49225250C>T	ENSP00000222145:p.Trp851*		Q6U676	Nonsense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.W851*	ENST00000222145.4	37	c.2553	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.840911	0.98519	.	.	ENSG00000105538	ENST00000222145	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.308	15.1049	0.72312	0.0:1.0:0.0:0.0	.	.	.	.	X	851	.	ENSP00000222145:W851X	W	-	3	0	RASIP1	53917062	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.483000	0.73617	2.515000	0.84797	0.484000	0.47621	TGG	RASIP1	-	pfam_Dil_domain,pfscan_Dilute		0.612	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	C	NM_017805		49225250	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49225250	C	T	49225250	4	4	32	1	0	0	0	0	0	1	0	0	13108	856	30	1	346	1	RASIP1	19	49225250	Nonsense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	2944466	49225250	9903733	188	4453										
ZNF816A	125893	genome.wustl.edu	37	chr19	53454323	53454323	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	gagctataattaaaggctttGccacactcattactttggca	7	9	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:53454323G>C	ENST00000357666.4	-	5	1005	c.705C>G	c.(703-705)ggC>ggG	p.G235G	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.G235G|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TAAAGGCTTTGCCACACTCAT	0.348																																																	0													92	94	93					19																	53454323		2203	4300	6503	SO:0001819	synonymous_variant	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.705C>G	19.37:g.53454323G>C			A8K7H5|Q3KR39|Q659B3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G235	ENST00000357666.4	37	c.705	CCDS33096.1	19																																																																																			ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	G	NM_001031665		53454323	-1	no_errors	ENST00000357666	ensembl	human	known	70_37	silent	SNP	0.991	C	C	53454323	G	C	53454323	2	2	32	1	0	0	0	0	0	0	0	1	18207	1306	46	4		4	ZNF816A	19	53454323	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	4229073	53454323	5674660	189	4454										
ZNF324B	388569	genome.wustl.edu	37	chr19	58967304	58967304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	agctcctcgctggtgcggcaCcagcgcatccacacggccga	12	17	0	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:58967304C>T	ENST00000336614.4	+	4	1100	c.993C>T	c.(991-993)caC>caT	p.H331H	ZNF324B_ENST00000391696.1_Silent_p.H321H|ZNF324B_ENST00000545523.1_Silent_p.H331H	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGGTGCGGCACCAGCGCATCC	0.687																																																	0													5	6	5					19																	58967304		2075	4005	6080	SO:0001819	synonymous_variant	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.993C>T	19.37:g.58967304C>T			B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H331	ENST00000336614.4	37	c.993	CCDS33138.1	19																																																																																			ZNF324B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.687	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	C	NM_207395		58967304	1	no_errors	ENST00000336614	ensembl	human	known	70_37	silent	SNP	0.998	T	T	58967304	C	T	58967304	2	4	32	1	0	0	0	0	0	0	0	1	17875	506	18	4		4	ZNF324B	19	58967304	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	5512981	58967304	161679	190	4455										
FERMT1	55612	genome.wustl.edu	37	chr20	6088188	6088188	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aagttgcttactttaggattCaagtcgaagaaagaataata	8	4	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:6088188C>T	ENST00000217289.4	-	6	1628	c.840G>A	c.(838-840)ttG>ttA	p.L280L	FERMT1_ENST00000536936.1_Silent_p.L23L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	280	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAGGATTCAAGTCGAAGA	0.358																																																	0													51	51	51					20																	6088188		2203	4300	6503	SO:0001819	synonymous_variant	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.840G>A	20.37:g.6088188C>T			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L280	ENST00000217289.4	37	c.840	CCDS13098.1	20																																																																																			FERMT1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.358	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	C	NM_017671		6088188	-1	no_errors	ENST00000217289	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6088188	C	T	6088188	2	4	32	1	0	0	0	0	0	0	0	1	5835	825	29	1		1	FERMT1	20	6088188	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		6088188	56937332	191	4456										
SLC32A1	140679	genome.wustl.edu	37	chr20	37357017	37357017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ggggctgacgctgcgctgcgCgctcgtcgtcttcacgctgc	15	15	2	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:37357017C>T	ENST00000217420.1	+	2	1576	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	438					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGCGCTGCGCGCTCGTCGTC	0.667																																																	0													30	32	31					20																	37357017		2203	4299	6502	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1313C>T	20.37:g.37357017C>T	ENSP00000217420:p.Ala438Val		Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A438V	ENST00000217420.1	37	c.1313	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686087	0.14973	.	.	ENSG00000101438	ENST00000217420	T	0.02301	4.35	4.89	4.89	0.63831	.	0.241467	0.40818	N	0.001015	T	0.01870	0.0059	N	0.17723	0.515	0.49483	D	0.99979	B	0.16166	0.016	B	0.15484	0.013	T	0.41431	-0.9509	10	0.05620	T	0.96	-28.1095	15.8953	0.79329	0.0:1.0:0.0:0.0	.	438	Q9H598	VIAAT_HUMAN	V	438	ENSP00000217420:A438V	ENSP00000217420:A438V	A	+	2	0	SLC32A1	36790431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.097000	0.41748	2.436000	0.82500	0.655000	0.94253	GCG	SLC32A1	-	pfam_AA_transpt_TM		0.667	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	C	NM_080552		37357017	1	no_errors	ENST00000217420	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37357017	C	T	37357017	3	4	32	1	0	0	0	0	1	0	0	0	14595	768	27	2	1319	2	SLC32A1	20	37357017	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	31268829	37357017	25668503	192	4457										
PPP1R16B	26051	genome.wustl.edu	37	chr20	37536735	37536735	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ataggaaggagtatgagggaGaggccatcctgtggcagcgg	18	6	0	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:37536735G>C	ENST00000299824.1	+	10	1282	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E323Q	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	365					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GTATGAGGGAGAGGCCATCCT	0.597																																																	0													111	96	101					20																	37536735		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1093G>C	20.37:g.37536735G>C	ENSP00000299824:p.Glu365Gln		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E365Q	ENST00000299824.1	37	c.1093	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.255690|5.255690	0.95336|0.95336	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.80738	.|-0.58;-1.41	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.051392|0.051392	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84437|0.84437	0.5472|0.5472	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.994	D|D	0.84392|0.84392	0.0555|0.0555	6|10	.|0.45353	.|T	.|0.12	.|.	20.0987|20.0987	0.97860|0.97860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|323;365	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	D|Q	265|365;323	.|ENSP00000299824:E365Q;ENSP00000362428:E323Q	.|ENSP00000299824:E365Q	E|E	+|+	3|1	2|0	PPP1R16B|PPP1R16B	36970149|36970149	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	9.253000|9.253000	0.95501|0.95501	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	GAG|GAG	PPP1R16B	-	pirsf_Pase-1_reg_su_16AB_euk		0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	G	NM_015568		37536735	1	no_errors	ENST00000299824	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37536735	G	C	37536735	3	2	32	1	0	0	0	0	1	0	0	0	12393	943	33	1	1127	1	PPP1R16B	20	37536735	Missense_Mutation	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	179718	37536735	25488785	193	4458										
RBPJL	11317	genome.wustl.edu	37	chr20	43944948	43944948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cctggcgtgtaccctggagcCggtcactccggtgcctctca	12	16	2	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:43944948C>T	ENST00000343694.3	+	10	1214	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	RBPJL_ENST00000372743.1_Missense_Mutation_p.P381L|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.P381L	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	381					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACCCTGGAGCCGGTCACTCCG	0.637																																																	0													57	52	54					20																	43944948		2203	4300	6503	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1142C>T	20.37:g.43944948C>T	ENSP00000341243:p.Pro381Leu		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.P381L	ENST00000343694.3	37	c.1142	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618290	0.66787	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.23147	1.92;1.92;1.92	4.69	4.69	0.59074	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000003	T	0.24890	0.0604	M	0.73217	2.22	0.80722	D	1	D;D	0.57257	0.979;0.958	B;B	0.30316	0.114;0.065	T	0.40590	-0.9555	10	0.59425	D	0.04	-29.4361	16.8366	0.85958	0.0:1.0:0.0:0.0	.	381;381	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	L	381	ENSP00000361828:P381L;ENSP00000361826:P381L;ENSP00000341243:P381L	ENSP00000341243:P381L	P	+	2	0	RBPJL	43378362	1.000000	0.71417	0.905000	0.35620	0.259000	0.26198	5.564000	0.67359	2.433000	0.82419	0.650000	0.86243	CCG	RBPJL	-	superfamily_Ig_E-set		0.637	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	C	NM_014276		43944948	1	no_errors	ENST00000343694	ensembl	human	known	70_37	missense	SNP	0.999	T	T	43944948	C	T	43944948	3	4	32	1	0	0	0	0	1	0	0	0	13192	652	23	2	1180	2	RBPJL	20	43944948	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	6408213	43944948	19080572	194	4459										
EYA2	2139	genome.wustl.edu	37	chr20	45618727	45618727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	ctgaagtttaaccgtgctgaCgctgctgtgtggactctgag	13	9	1	3	rs141069620		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:45618727C>T	ENST00000327619.5	+	2	452	c.78C>T	c.(76-78)gaC>gaT	p.D26D	EYA2_ENST00000357410.3_Silent_p.D26D|EYA2_ENST00000317304.6_Silent_p.D26D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	26					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCGTGCTGACGCTGCTGTGT	0.478																																					Pancreas(120;56 1725 18501 25218 43520)												0								C	,	0,4406		0,0,2203	151	133	139		78,78	-1.4	0	20	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EYA2	NM_005244.4,NM_172110.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	26/539,26/460	45618727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.78C>T	20.37:g.45618727C>T			Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.D26	ENST00000327619.5	37	c.78	CCDS13403.1	20																																																																																			EYA2	-	NULL		0.478	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	C	NM_005244		45618727	1	no_errors	ENST00000327619	ensembl	human	known	70_37	silent	SNP	0.000	T	T	45618727	C	T	45618727	2	4	32	1	0	0	0	0	0	0	0	1	5341	535	19	2		2	EYA2	20	45618727	Silent	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	1673779	45618727	17406793	195	4460										
TMPRSS15	5651	genome.wustl.edu	37	chr21	19770616	19770616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	atgttattttaaatgtcgctCtggcttcatgactctgtcca	7	9	3	1			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr21:19770616C>G	ENST00000284885.3	-	2	209	c.176G>C	c.(175-177)aGa>aCa	p.R59T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	59	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATGTCGCTCTGGCTTCATG	0.353																																																	0													76	78	77					21																	19770616		2203	4300	6503	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.176G>C	21.37:g.19770616C>G	ENSP00000284885:p.Arg59Thr		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R59T	ENST00000284885.3	37	c.176	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552210	0.45487	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.37058	1.22;1.22	5.23	3.43	0.39272	SEA (3);	0.169939	0.50627	D	0.000117	T	0.26231	0.0640	L	0.39898	1.24	0.30743	N	0.74599	B	0.24092	0.097	B	0.24269	0.052	T	0.17745	-1.0359	9	.	.	.	.	7.8922	0.29684	0.0:0.8149:0.0:0.1851	.	59	P98073	ENTK_HUMAN	T	59;14	ENSP00000284885:R59T;ENSP00000398253:R14T	.	R	-	2	0	TMPRSS15	18692487	0.993000	0.37304	0.981000	0.43875	0.583000	0.36354	0.963000	0.29293	0.794000	0.33899	-0.163000	0.13421	AGA	TMPRSS15	-	pfam_SEA,smart_SEA,pfscan_SEA		0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	C	NM_002772		19770616	-1	no_errors	ENST00000284885	ensembl	human	known	70_37	missense	SNP	0.994	G	G	19770616	C	G	19770616	3	3	32	1	0	0	0	0	1	0	0	0	16276	913	32	1	2979	1	TMPRSS15	21	19770616	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		19770616	28359279	196	4461										
SERPINA7	6906	genome.wustl.edu	37	chrX	105277520	105277520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	cgttgggttcacaactttccCtagaaagagaatactccttg	8	10	1	2			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:105277520C>A	ENST00000327674.4	-	4	1554	c.1219G>T	c.(1219-1221)Ggg>Tgg	p.G407W	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.G407W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	407					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACAACTTTCCCTAGAAAGAGA	0.393																																																	0													162	166	164					X																	105277520		2203	4299	6502	SO:0001583	missense	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1219G>T	X.37:g.105277520C>A	ENSP00000329374:p.Gly407Trp		D3DUX1	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.G407W	ENST00000327674.4	37	c.1219	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839500	0.51057	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.99070	-5.39;-5.39	4.9	3.14	0.36123	Serpin domain (3);	0.082168	0.52532	D	0.000078	D	0.99471	0.9812	H	0.98256	4.185	0.40026	D	0.975471	D	0.89917	1.0	D	0.97110	1.0	D	0.98735	1.0714	10	0.87932	D	0	.	8.6397	0.33970	0.0:0.8077:0.0:0.1923	.	407	P05543	THBG_HUMAN	W	407	ENSP00000329374:G407W;ENSP00000361644:G407W	ENSP00000329374:G407W	G	-	1	0	SERPINA7	105164176	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	6.915000	0.75770	0.591000	0.29711	0.594000	0.82650	GGG	SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.393	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	C	NM_000354		105277520	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105277520	C	A	105277520	3	1	32	1	0	0	0	0	1	0	0	0	14124	681	24	4	32	4	SERPINA7	23	105277520	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09		105277520	49993040	197	4462										
RNF128	79589	genome.wustl.edu	37	chrX	105970452	105970452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	aacccgcacacgaatttcacGgtgcccacggtttggggaag	12	12	1	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:105970452G>A	ENST00000255499.2	+	1	559	c.309G>A	c.(307-309)acG>acA	p.T103T	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	103	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CGAATTTCACGGTGCCCACGG	0.647																																																	0													29	28	28					X																	105970452		2203	4300	6503	SO:0001819	synonymous_variant	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.309G>A	X.37:g.105970452G>A			A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T103	ENST00000255499.2	37	c.309	CCDS14521.1	X																																																																																			RNF128	-	NULL		0.647	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	G	NM_024539		105970452	1	no_errors	ENST00000255499	ensembl	human	known	70_37	silent	SNP	0.998	A	A	105970452	G	A	105970452	2	1	32	1	0	0	0	0	0	0	0	1	13466	1103	39	2		2	RNF128	23	105970452	Silent	SNP	G	TCGA-C5-A2LX-01A-11D-A18J-09	692932	105970452	49300108	198	4463										
BCAP31	10134	genome.wustl.edu	37	chrX	152981118	152981118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.331658291457286	66	2.39879234160583e-19	3.3443873807777	4.40851063829787	2.81232575201761	0.244333584908883	0.498954899708666	46	caccttttccgtcacatcatCatacttccgaatttcgcgca	4	15	3	0			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:152981118C>T	ENST00000345046.6	-	4	627	c.220G>A	c.(220-222)Gat>Aat	p.D74N	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.D74N|BCAP31_ENST00000458587.2_Missense_Mutation_p.D141N	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	74					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACATCATCATACTTCCGA	0.537																																																	0													187	144	158					X																	152981118		2203	4300	6503	SO:0001583	missense	10134			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.220G>A	X.37:g.152981118C>T	ENSP00000343458:p.Asp74Asn		B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	pfam_Bap31	p.D141N	ENST00000345046.6	37	c.421	CCDS14727.1	X	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669529	0.47677	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.38	5.38	0.77491	.	0.090008	0.85682	D	0.000000	T	0.55049	0.1896	N	0.12887	0.27	0.34779	D	0.734556	D;D	0.76494	0.999;0.979	D;P	0.78314	0.991;0.76	T	0.63457	-0.6633	9	0.26408	T	0.33	-22.1497	16.8983	0.86106	0.0:1.0:0.0:0.0	.	74;141	P51572;B3KQ79	BAP31_HUMAN;.	N	74;74;141;141;74;74;74;74;74	.	ENSP00000343458:D74N	D	-	1	0	BCAP31	152634312	0.993000	0.37304	0.147000	0.22382	0.251000	0.25915	2.984000	0.49353	2.252000	0.74401	0.468000	0.43344	GAT	BCAP31	-	pfam_Bap31		0.537	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	C	NM_005745		152981118	-1	no_errors	ENST00000458587	ensembl	human	known	70_37	missense	SNP	0.915	T	T	152981118	C	T	152981118	3	4	32	1	0	0	0	0	1	0	0	0	1348	826	29	1	540	1	BCAP31	23	152981118	Missense_Mutation	SNP	C	TCGA-C5-A2LX-01A-11D-A18J-09	47010666	152981118	2289442	199	4464										
FLNB	2317	genome.wustl.edu	37	chr3	58062875	58062875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcccgtgtgggaggatgaagGggatgatgatgccaagaagc	18	6	0	4			TCGA-C5-A2LY-01A-31D-A18J-09	TCGA-C5-A2LY-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	047f9e4d-86b5-4943-aef5-68199bf29e8c	433b41e8-d79a-4da0-a700-821cd97cc1b9	g.chr3:58062875G>T	ENST00000295956.4	+	2	560	c.395G>T	c.(394-396)gGg>gTg	p.G132V	FLNB_ENST00000429972.2_Missense_Mutation_p.G132V|FLNB_ENST00000419752.2_5'Flank|FLNB_ENST00000357272.4_Missense_Mutation_p.G132V|FLNB_ENST00000490882.1_Missense_Mutation_p.G132V|FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000348383.5_Missense_Mutation_p.G132V|FLNB_ENST00000358537.3_Missense_Mutation_p.G132V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	132	Actin-binding.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGGATGAAGGGGATGATGAT	0.537																																																	0													106	99	102					3																	58062875		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.395G>T	3.37:g.58062875G>T	ENSP00000295956:p.Gly132Val		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G132V	ENST00000295956.4	37	c.395	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383437	0.61845	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.88201	-2.27;-2.28;-2.26;-2.26;-2.34;-2.35	5.04	5.04	0.67666	Calponin homology domain (2);	0.143593	0.64402	D	0.000007	D	0.89364	0.6694	L	0.31926	0.97	0.80722	D	1	D;P;P;P	0.59357	0.985;0.493;0.955;0.955	P;B;B;B	0.53760	0.734;0.142;0.3;0.3	D	0.90766	0.4668	10	0.72032	D	0.01	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	132;132;132;132	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	V	132	ENSP00000295956:G132V;ENSP00000420213:G132V;ENSP00000351339:G132V;ENSP00000415599:G132V;ENSP00000232447:G132V;ENSP00000349819:G132V	ENSP00000295956:G132V	G	+	2	0	FLNB	58037915	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.084000	0.64462	2.496000	0.84212	0.455000	0.32223	GGG	FLNB	-	superfamily_CH-domain		0.537	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58062875	1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58062875	G	T	58062875	3	4	33	1	0	0	0	0	1	0	0	0	5952	1232	43	4	401	4	FLNB	3	58062875	Missense_Mutation	SNP	G	TCGA-C5-A2LY-01A-31D-A18J-09		58062875	139959555	1	4465										
OR2S2	56656	genome.wustl.edu	37	chr9	35957557	35957557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttagaacagccagaatctcaCaggtgaagtggttgatgaca	11	7	1	5			TCGA-C5-A2LY-01A-31D-A18J-09	TCGA-C5-A2LY-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	047f9e4d-86b5-4943-aef5-68199bf29e8c	433b41e8-d79a-4da0-a700-821cd97cc1b9	g.chr9:35957557C>A	ENST00000341959.2	-	1	594	c.539G>T	c.(538-540)tGt>tTt	p.C180F		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	180					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAATCTCACAGGTGAAGTG	0.512																																					Pancreas(172;293 2036 17878 24427 30946)												0													103	93	96					9																	35957557		2203	4300	6503	SO:0001583	missense	56656			AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.539G>T	9.37:g.35957557C>A	ENSP00000344040:p.Cys180Phe		Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C180F	ENST00000341959.2	37	c.539	CCDS6596.2	9	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563650	0.45694	.	.	ENSG00000122718	ENST00000341959	T	0.62639	0.01	4.17	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	D	0.86871	0.6037	H	0.99609	4.655	0.28454	N	0.916183	D	0.89917	1.0	D	0.79108	0.992	T	0.82252	-0.0549	10	0.87932	D	0	.	10.2633	0.43441	0.0:0.9011:0.0:0.0989	.	180	Q9NQN1	OR2S1_HUMAN	F	180	ENSP00000344040:C180F	ENSP00000344040:C180F	C	-	2	0	OR2S2	35947557	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	4.768000	0.62293	1.334000	0.45468	0.655000	0.94253	TGT	OR2S2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.512	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2S2	HGNC	protein_coding	OTTHUMT00000052400.2	C	NM_019897		35957557	-1	no_errors	ENST00000341959	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35957557	C	A	35957557	3	1	33	1	0	0	0	0	1	0	0	0	11039	478	17	4	424	4	OR2S2	9	35957557	Missense_Mutation	SNP	C	TCGA-C5-A2LY-01A-31D-A18J-09		35957557	105255874	2	4466										
LPAR1	1902	genome.wustl.edu	37	chr9	113704131	113704131	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgaggccctgacgaaggagCcatgtgctaacagtcagtct	12	10	2	2			TCGA-C5-A2LY-01A-31D-A18J-09	TCGA-C5-A2LY-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	047f9e4d-86b5-4943-aef5-68199bf29e8c	433b41e8-d79a-4da0-a700-821cd97cc1b9	g.chr9:113704131C>T	ENST00000374431.3	-	4	746	c.363G>A	c.(361-363)tgG>tgA	p.W121*	LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W122*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W122*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W121*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W121*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	121					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GACGAAGGAGCCATGTGCTAA	0.522																																					NSCLC(115;661 2323 9836 34256)												0													147	145	146					9																	113704131		2203	4300	6503	SO:0001587	stop_gained	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.363G>A	9.37:g.113704131C>T	ENSP00000363553:p.Trp121*		B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.W122*	ENST00000374431.3	37	c.366	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.811368	0.97857	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.45	0.90700	0.0:1.0:0.0:0.0	.	.	.	.	X	121;122;121;121;103;122;121	.	ENSP00000351755:W121X	W	-	3	0	LPAR1	112743952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.616000	0.88540	0.655000	0.94253	TGG	LPAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2		0.522	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	C	NM_057159		113704131	-1	no_errors	ENST00000538760	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	113704131	C	T	113704131	4	4	33	1	0	0	0	0	0	1	0	0	8927	740	26	4	739	4	LPAR1	9	113704131	Nonsense_Mutation	SNP	C	TCGA-C5-A2LY-01A-31D-A18J-09	77746574	113704131	27509300	3	4467										
AJAP1	55966	genome.wustl.edu	37	chr1	4832482	4832482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcacggcctataacgagaccCtgcagtgttctcacgagtgc	10	13	2	1	rs114921411	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:4832482C>G	ENST00000378191.4	+	4	1441	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V	AJAP1_ENST00000378190.3_Missense_Mutation_p.L354V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	354	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAACGAGACCCTGCAGTGTTC	0.582																																																	0													78	67	71					1																	4832482		2203	4300	6503	SO:0001583	missense	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1060C>G	1.37:g.4832482C>G	ENSP00000367433:p.Leu354Val		Q9Y229	Missense_Mutation	SNP	NULL	p.L354V	ENST00000378191.4	37	c.1060	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821186	0.71028	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56103	0.48;0.48	5.12	4.19	0.49359	.	0.000000	0.64402	D	0.000001	T	0.58552	0.2130	L	0.27053	0.805	0.46774	D	0.99919	D	0.76494	0.999	D	0.80764	0.994	T	0.62831	-0.6771	10	0.87932	D	0	-22.681	12.7678	0.57401	0.0:0.9171:0.0:0.0829	.	354	Q9UKB5	AJAP1_HUMAN	V	354	ENSP00000367432:L354V;ENSP00000367433:L354V	ENSP00000367432:L354V	L	+	1	2	AJAP1	4732342	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.210000	0.42816	2.380000	0.81148	0.561000	0.74099	CTG	AJAP1	-	NULL		0.582	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	C	NM_018836		4832482	1	no_errors	ENST00000378190	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4832482	C	G	4832482	3	3	34	1	0	0	0	0	1	0	0	0	438	680	24	4	1074	4	AJAP1	1	4832482	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		4832482	244418139	1	4468										
RNF207	388591	genome.wustl.edu	37	chr1	6273207	6273207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcagatcacgccctacgtccGctccattgccaaggtgaagg	11	14	1	2	rs201773865	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:6273207G>A	ENST00000377939.4	+	16	1743	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	539			R -> C (in dbSNP:rs55823245).			intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCTACGTCCGCTCCATTGCC	0.622													G|||	11	0.00219649	0	0	5008	,	,		17942	0.0099		0	False		,,,				2504	0.001																0								G	HIS/ARG	4,3972		0,4,1984	41	46	44		1616	0.9	0.6	1		44	0,8316		0,0,4158	yes	missense	RNF207	NM_207396.2	29	0,4,6142	AA,AG,GG		0.0,0.1006,0.0325	possibly-damaging	539/635	6273207	4,12288	1988	4158	6146	SO:0001583	missense	388591			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1616G>A	1.37:g.6273207G>A	ENSP00000367173:p.Arg539His		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.R539H	ENST00000377939.4	37	c.1616	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641701	0.67244	0.001006	0.0	ENSG00000158286	ENST00000377939	T	0.19532	2.14	4.89	0.936	0.19488	.	0.067165	0.64402	D	0.000012	T	0.20007	0.0481	M	0.68952	2.095	0.80722	D	1	D	0.55605	0.972	B	0.42214	0.38	T	0.02533	-1.1145	10	0.62326	D	0.03	-10.5828	6.1644	0.20382	0.2112:0.0:0.6578:0.1311	.	539	Q6ZRF8	RN207_HUMAN	H	539	ENSP00000367173:R539H	ENSP00000367173:R539H	R	+	2	0	RNF207	6195794	1.000000	0.71417	0.644000	0.29465	0.976000	0.68499	0.939000	0.28978	-0.079000	0.12707	-0.475000	0.04921	CGC	RNF207	-	NULL		0.622	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	G	NM_207396		6273207	1	no_errors	ENST00000377939	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	6273207	G	A	6273207	3	1	34	1	0	0	0	0	1	0	0	0	13504	1087	38	2	1674	2	RNF207	1	6273207	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1440725	6273207	242977414	2	4469										
PADI2	11240	genome.wustl.edu	37	chr1	17422424	17422424	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cttctttgggttgttcttctCcaccacaccatcccggtctg	7	15	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:17422424C>A	ENST00000375486.4	-	4	454	c.391G>T	c.(391-393)Gag>Tag	p.E131*	PADI2_ENST00000444885.2_Nonsense_Mutation_p.E131*|PADI2_ENST00000375481.1_Nonsense_Mutation_p.E131*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	131					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTGTTCTTCTCCACCACACCA	0.617																																																	0													213	183	193					1																	17422424		2203	4300	6503	SO:0001587	stop_gained	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.391G>T	1.37:g.17422424C>A	ENSP00000364635:p.Glu131*		Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E131*	ENST00000375486.4	37	c.391	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.492911	0.97612	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-43.5951	19.2273	0.93822	0.0:1.0:0.0:0.0	.	.	.	.	X	131	.	ENSP00000364630:E131X	E	-	1	0	PADI2	17295011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.162000	0.58177	2.894000	0.99253	0.655000	0.94253	GAG	PADI2	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.617	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17422424	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	17422424	C	A	17422424	4	1	34	1	0	0	0	0	0	1	0	0	11402	864	30	3	1658	3	PADI2	1	17422424	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	11149217	17422424	231828197	3	4470										
PADI1	29943	genome.wustl.edu	37	chr1	17559361	17559361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gagatcccgctccctggtccCtccagccttgactccttcgg	9	18	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:17559361C>T	ENST00000375471.4	+	11	1301	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	PADI1_ENST00000413717.2_5'Flank|PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000537499.1_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	403					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TCCCTGGTCCCTCCAGCCTTG	0.637																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													38	36	37					1																	17559361		2203	4300	6503	SO:0001819	synonymous_variant	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1209C>T	1.37:g.17559361C>T			A1L4K6|Q70SX6	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.P403	ENST00000375471.4	37	c.1209	CCDS178.1	1																																																																																			PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.637	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	C	NM_013358		17559361	1	no_errors	ENST00000375471	ensembl	human	known	70_37	silent	SNP	0.525	T	T	17559361	C	T	17559361	2	4	34	1	0	0	0	0	0	0	0	1	11401	668	24	4		4	PADI1	1	17559361	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	136937	17559361	231691260	4	4471										
XKR8	55113	genome.wustl.edu	37	chr1	28293330	28293330	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgacggtggccaccatcctCtatttctcctggttcaacgt	9	13	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:28293330C>G	ENST00000373884.5	+	3	1415	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	269					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCACCATCCTCTATTTCTCCT	0.627																																																	0													23	24	23					1																	28293330		2203	4300	6503	SO:0001819	synonymous_variant	55113			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.807C>G	1.37:g.28293330C>G				Silent	SNP	pfam_Transport_prot_XK	p.L269	ENST00000373884.5	37	c.807	CCDS315.1	1																																																																																			XKR8	-	pfam_Transport_prot_XK		0.627	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	C	NM_018053		28293330	1	no_errors	ENST00000373884	ensembl	human	known	70_37	silent	SNP	1.000	G	G	28293330	C	G	28293330	2	3	34	1	0	0	0	0	0	0	0	1	17468	900	32	1		1	XKR8	1	28293330	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10733969	28293330	220957291	5	4472										
XKR8	55113	genome.wustl.edu	37	chr1	28293345	28293345	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcctctatttctcctggttCaacgtggctgagggccgcac	10	13	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:28293345C>T	ENST00000373884.5	+	3	1430	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	274					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TCTCCTGGTTCAACGTGGCTG	0.622																																																	0													24	25	25					1																	28293345		2203	4300	6503	SO:0001819	synonymous_variant	55113			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.822C>T	1.37:g.28293345C>T				Silent	SNP	pfam_Transport_prot_XK	p.F274	ENST00000373884.5	37	c.822	CCDS315.1	1																																																																																			XKR8	-	pfam_Transport_prot_XK		0.622	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	C	NM_018053		28293345	1	no_errors	ENST00000373884	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28293345	C	T	28293345	2	4	34	1	0	0	0	0	0	0	0	1	17468	825	29	1		1	XKR8	1	28293345	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	15	28293345	220957276	6	4473										
ZMYM4	9202	genome.wustl.edu	37	chr1	35853072	35853072	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagggcaaaatgtttcagttCtgtggcaagaattgttctga	11	6	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:35853072C>T	ENST00000314607.6	+	13	2210	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	ZMYM4_ENST00000373297.2_Silent_p.F621F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	710					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTCAGTTCTGTGGCAAGA	0.299																																																	0													55	60	58					1																	35853072		2203	4300	6503	SO:0001819	synonymous_variant	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2130C>T	1.37:g.35853072C>T			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.F710	ENST00000314607.6	37	c.2130	CCDS389.1	1																																																																																			ZMYM4	-	pfam_Znf_MYM,smart_TRASH		0.299	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	C	NM_005095		35853072	1	no_errors	ENST00000314607	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35853072	C	T	35853072	2	4	34	1	0	0	0	0	0	0	0	1	17732	912	32	1		1	ZMYM4	1	35853072	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7559727	35853072	213397549	7	4474										
C1orf216	127703	genome.wustl.edu	37	chr1	36181736	36181736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttggttgtcagagggtgactCagaggagctcctcctcagga	14	9	3	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:36181736C>G	ENST00000270815.4	-	2	957	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	63										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAGGGTGACTCAGAGGAGCTC	0.602											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85	82	83					1																	36181736		2203	4300	6503	SO:0001583	missense	127703			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.187G>C	1.37:g.36181736C>G	ENSP00000425166:p.Glu63Gln	861	D3DPS1|Q8N8N6	Missense_Mutation	SNP	NULL	p.E63Q	ENST00000270815.4	37	c.187	CCDS395.1	1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.691985	0.15039	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	4.32	-1.39	0.08997	.	0.736150	0.12396	N	0.472559	T	0.26448	0.0646	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.20840	-1.0263	9	0.41790	T	0.15	-13.0526	1.9416	0.03348	0.1287:0.4174:0.1262:0.3276	.	63	Q8TAB5	CA216_HUMAN	Q	63	.	ENSP00000425166:E63Q	E	-	1	0	C1orf216	35954323	0.109000	0.22037	0.000000	0.03702	0.538000	0.34931	0.678000	0.25277	-0.049000	0.13379	0.561000	0.74099	GAG	C1orf216	-	NULL		0.602	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf216	HGNC	protein_coding	OTTHUMT00000012013.3	C	NM_152374		36181736	-1	no_errors	ENST00000270815	ensembl	human	known	70_37	missense	SNP	0.000	G	G	36181736	C	G	36181736	3	3	34	1	0	0	0	0	1	0	0	0	2036	835	29	1	506	1	C1orf216	1	36181736	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	328664	36181736	213068885	8	4475										
EIF2C3	192669	genome.wustl.edu	37	chr1	36499858	36499858	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgtaataaaaacatctcctCaaactctgtcaaacttgtgc	4	10	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:36499858C>T	ENST00000373191.4	+	13	2024	c.1675C>T	c.(1675-1677)Caa>Taa	p.Q559*	AGO3_ENST00000246314.6_Nonsense_Mutation_p.Q325*	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	559	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AACATCTCCTCAAACTCTGTC	0.368																																																	0													78	76	77					1																	36499858		2203	4300	6503	SO:0001587	stop_gained	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1675C>T	1.37:g.36499858C>T	ENSP00000362287:p.Gln559*		B1ALI0|Q5TA55|Q9H1U6	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q559*	ENST00000373191.4	37	c.1675	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.473807	0.99181	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-42.692	17.8765	0.88826	0.0:1.0:0.0:0.0	.	.	.	.	X	559;325	.	ENSP00000246314:Q325X	Q	+	1	0	EIF2C3	36272445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.288000	0.76882	0.655000	0.94253	CAA	EIF2C3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.368	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	C	NM_024852		36499858	1	no_errors	ENST00000373191	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	36499858	C	T	36499858	4	4	34	1	0	0	0	0	0	1	0	0	5017	827	29	1	1725	1	EIF2C3	1	36499858	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	318122	36499858	212750763	9	4476										
OSCP1	127700	genome.wustl.edu	37	chr1	36904398	36904398	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagtttcataatggaggcatGagccaggcgctcatagacag	12	9	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:36904398G>A	ENST00000356637.5	-	3	319	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	OSCP1_ENST00000354267.3_Missense_Mutation_p.H76Y|OSCP1_ENST00000235532.5_Missense_Mutation_p.H76Y|OSCP1_ENST00000315643.9_Missense_Mutation_p.H86Y|OSCP1_ENST00000433045.2_Missense_Mutation_p.H31Y			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	86					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATGGAGGCATGAGCCAGGCGC	0.458																																																	0													99	92	95					1																	36904398		2203	4300	6503	SO:0001583	missense	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.256C>T	1.37:g.36904398G>A	ENSP00000349052:p.His86Tyr		A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	pfam_OSCP1	p.H76Y	ENST00000356637.5	37	c.226		1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935395	0.92458	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;0.999;1.0	T	0.67696	-0.5604	10	0.66056	D	0.02	.	19.211	0.93755	0.0:0.0:1.0:0.0	.	76;76;86	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	Y	76;86;31;46;86;76	ENSP00000235532:H76Y;ENSP00000349052:H86Y;ENSP00000390820:H31Y;ENSP00000396417:H46Y;ENSP00000314541:H86Y;ENSP00000346216:H76Y	ENSP00000235532:H76Y	H	-	1	0	OSCP1	36676985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.655000	0.94253	CAT	OSCP1	-	pfam_OSCP1		0.458	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	G	NM_145047		36904398	-1	no_errors	ENST00000235532	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36904398	G	A	36904398	3	1	34	1	0	0	0	0	1	0	0	0	11310	1290	45	1	1109	1	OSCP1	1	36904398	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	404540	36904398	212346223	10	4477										
SNIP1	79753	genome.wustl.edu	37	chr1	38019744	38019744	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggctgagacgctcctgcttCaccaccacccccgccggcag	11	19	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:38019744C>T	ENST00000296215.6	-	1	159	c.87G>A	c.(85-87)gtG>gtA	p.V29V	SNIP1_ENST00000468040.1_Intron|DNALI1_ENST00000541606.1_5'Flank|DNALI1_ENST00000296218.7_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	29					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCTCCTGCTTCACCACCACCC	0.701																																																	0													33	32	32					1																	38019744		2201	4298	6499	SO:0001819	synonymous_variant	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.87G>A	1.37:g.38019744C>T			Q96SP9|Q9H9T7	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.V29	ENST00000296215.6	37	c.87	CCDS419.1	1																																																																																			SNIP1	-	NULL		0.701	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	C	NM_024700		38019744	-1	no_errors	ENST00000296215	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38019744	C	T	38019744	2	4	34	1	0	0	0	0	0	0	0	1	14878	813	29	1		1	SNIP1	1	38019744	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1115346	38019744	211230877	11	4478										
SCMH1	22955	genome.wustl.edu	37	chr1	41494305	41494305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caagctgaggatcagcttccCggacaaactgcatcacatcc	8	14	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:41494305C>T	ENST00000326197.7	-	14	2107	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000372595.1_Missense_Mutation_p.R542Q|SCMH1_ENST00000372597.1_Missense_Mutation_p.R534Q|SCMH1_ENST00000372596.1_Missense_Mutation_p.R520Q|SCMH1_ENST00000402904.2_Missense_Mutation_p.R603Q|SCMH1_ENST00000397174.2_Missense_Mutation_p.R561Q|SCMH1_ENST00000337495.5_Missense_Mutation_p.R591Q|SCMH1_ENST00000361705.3_Missense_Mutation_p.R534Q|SCMH1_ENST00000397171.2_Missense_Mutation_p.R520Q|SCMH1_ENST00000361191.5_Missense_Mutation_p.R520Q|SCMH1_ENST00000456518.2_Missense_Mutation_p.R423Q					sex comb on midleg homolog 1 (Drosophila)									p.R534Q(1)|p.R591Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATCAGCTTCCCGGACAAACTG	0.607																																																	2	Substitution - Missense(2)	large_intestine(2)											130	109	116					1																	41494305		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1808G>A	1.37:g.41494305C>T	ENSP00000318094:p.Arg603Gln			Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R603Q	ENST00000326197.7	37	c.1808	CCDS30688.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246901	0.59103	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.71	3.79	0.43588	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.064498	0.64402	N	0.000018	T	0.51381	0.1671	N	0.17901	0.54	0.32862	D	0.508098	B;P;D;P	0.71674	0.001;0.772;0.998;0.776	B;B;D;B	0.75484	0.004;0.089;0.986;0.36	T	0.58405	-0.7642	10	0.22109	T	0.4	.	15.1181	0.72419	0.0:0.9221:0.0:0.0779	.	423;591;534;603	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	Q	534;423;603;561;520;520;534;520;591;542;603	ENSP00000354996:R534Q;ENSP00000403974:R423Q;ENSP00000386079:R603Q;ENSP00000380359:R561Q;ENSP00000380356:R520Q;ENSP00000354656:R520Q;ENSP00000361678:R534Q;ENSP00000361677:R520Q;ENSP00000337352:R591Q;ENSP00000361676:R542Q;ENSP00000318094:R603Q	ENSP00000318094:R603Q	R	-	2	0	SCMH1	41266892	0.209000	0.23505	1.000000	0.80357	0.569000	0.35902	2.218000	0.42889	0.706000	0.31912	-1.119000	0.02030	CGG	SCMH1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.607	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	C			41494305	-1	no_errors	ENST00000326197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41494305	C	T	41494305	3	4	34	1	0	0	0	0	1	0	0	0	13938	652	23	2	182	2	SCMH1	1	41494305	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3474561	41494305	207756316	12	4479										
WDR65	149465	genome.wustl.edu	37	chr1	43647299	43647299	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgcaagaaaaacctgccatCaccatttatgaattgtcatc	6	10	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:43647299C>T	ENST00000372492.4	+	3	576	c.252C>T	c.(250-252)atC>atT	p.I84I	WDR65_ENST00000528956.1_Silent_p.I84I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		84										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACCTGCCATCACCATTTATG	0.453																																																	0													120	110	113					1																	43647299		2203	4300	6503	SO:0001819	synonymous_variant	149465																														ENST00000372492.4:c.252C>T	1.37:g.43647299C>T			A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I84	ENST00000372492.4	37	c.252		1																																																																																			WDR65	-	superfamily_WD40_repeat_dom		0.453	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	C			43647299	1	no_errors	ENST00000528956	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43647299	C	T	43647299	2	4	34	1	0	0	0	0	0	0	0	1	17347	816	29	1		1	WDR65	1	43647299	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2152994	43647299	205603322	13	4480										
SPATA6	54558	genome.wustl.edu	37	chr1	48764497	48764497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggtgggattttcccttataaGaggctgccctgttggaccag	13	9	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:48764497G>A	ENST00000371847.3	-	13	1519	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	SPATA6_ENST00000371843.3_Missense_Mutation_p.S436F|SPATA6_ENST00000396199.3_Missense_Mutation_p.S380F	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	452					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCCTTATAAGAGGCTGCCCT	0.438																																																	0													145	147	146					1																	48764497		2203	4300	6503	SO:0001583	missense	54558			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1355C>T	1.37:g.48764497G>A	ENSP00000360913:p.Ser452Phe		Q5T3N7|Q8WUE6	Missense_Mutation	SNP	NULL	p.S452F	ENST00000371847.3	37	c.1355	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397428	0.42512	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.12255	2.7;2.71;2.7	4.82	3.89	0.44902	.	0.653985	0.14845	N	0.295018	T	0.07683	0.0193	N	0.08118	0	0.26835	N	0.96851	P;P;P	0.43094	0.755;0.799;0.681	B;B;B	0.38755	0.179;0.281;0.281	T	0.13980	-1.0489	10	0.56958	D	0.05	.	10.8396	0.46706	0.0:0.1907:0.8093:0.0	.	380;436;452	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	F	452;436;380	ENSP00000360913:S452F;ENSP00000360909:S436F;ENSP00000379502:S380F	ENSP00000360909:S436F	S	-	2	0	SPATA6	48537084	0.891000	0.30450	0.804000	0.32291	0.982000	0.71751	0.907000	0.28531	1.214000	0.43395	0.563000	0.77884	TCT	SPATA6	-	NULL		0.438	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	G	NM_019073		48764497	-1	no_errors	ENST00000371847	ensembl	human	known	70_37	missense	SNP	0.722	A	A	48764497	G	A	48764497	3	1	34	1	0	0	0	0	1	0	0	0	15043	942	33	1	115	1	SPATA6	1	48764497	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5117198	48764497	200486124	14	4481										
ZFYVE9	9372	genome.wustl.edu	37	chr1	52810485	52810485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agcacaattgcctcagtgatCctgcagatcacagtagattg	9	10	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:52810485C>T	ENST00000371591.1	+	17	4116	c.3985C>T	c.(3985-3987)Cct>Tct	p.P1329S	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P1270S|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.P1329S	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1329					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCAGTGATCCTGCAGATCA	0.428																																																	0													143	113	124					1																	52810485		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3985C>T	1.37:g.52810485C>T	ENSP00000360647:p.Pro1329Ser		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.P1329S	ENST00000371591.1	37	c.3985	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336350	0.60963	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.39406	1.17;1.08;1.08	5.16	5.16	0.70880	Domain of unknown function DUF3480 (1);	0.159620	0.56097	D	0.000028	T	0.47303	0.1438	N	0.17800	0.525	0.80722	D	1	D;P	0.89917	1.0;0.683	D;B	0.91635	0.999;0.306	T	0.19910	-1.0291	10	0.07644	T	0.81	.	18.4472	0.90688	0.0:1.0:0.0:0.0	.	1270;1329	O95405-2;O95405	.;ZFYV9_HUMAN	S	1270;1329;1329	ENSP00000349737:P1270S;ENSP00000287727:P1329S;ENSP00000360647:P1329S	ENSP00000287727:P1329S	P	+	1	0	ZFYVE9	52583073	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	4.659000	0.61504	2.676000	0.91093	0.655000	0.94253	CCT	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.428	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	C	NM_007324		52810485	1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52810485	C	T	52810485	3	4	34	1	0	0	0	0	1	0	0	0	17701	855	30	1	4058	1	ZFYVE9	1	52810485	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4045988	52810485	196440136	15	4482										
C1orf175	374977	genome.wustl.edu	37	chr1	55175727	55175727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaactcctggctgccgcacgGgaactcatgggtgtgttact	13	11	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:55175727G>A	ENST00000421030.2	+	24	4124	c.3839G>A	c.(3838-3840)gGg>gAg	p.G1280E	MROH7_ENST00000409996.1_Missense_Mutation_p.G848E|MROH7_ENST00000454855.2_Missense_Mutation_p.G798E|MROH7-TTC4_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1280						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGCCGCACGGGAACTCATGG	0.617																																																	0													40	44	43					1																	55175727		2031	4182	6213	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3839G>A	1.37:g.55175727G>A	ENSP00000396622:p.Gly1280Glu		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1280E	ENST00000421030.2	37	c.3839	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	g	11.08	1.532231	0.27387	.	.	ENSG00000184313	ENST00000421030;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.14144	4.62;4.44;4.33;2.53	5.17	3.28	0.37604	.	.	.	.	.	T	0.16981	0.0408	L	0.57536	1.79	0.09310	N	1	P;P	0.48016	0.904;0.557	P;B	0.44897	0.463;0.17	T	0.11227	-1.0596	9	0.72032	D	0.01	.	7.1579	0.25647	0.093:0.1723:0.7346:0.0	.	1280;1279	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	E	1280;848;798;349	ENSP00000396622:G1280E;ENSP00000387048:G848E;ENSP00000401130:G798E;ENSP00000360336:G349E	ENSP00000360336:G349E	G	+	2	0	HEATR8	54948315	0.998000	0.40836	0.004000	0.12327	0.022000	0.10575	3.123000	0.50453	0.550000	0.28991	-0.235000	0.12190	GGG	HEATR8	-	NULL		0.617	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	G	NM_198547		55175727	1	no_errors	ENST00000421030	ensembl	human	known	70_37	missense	SNP	0.012	A	A	55175727	G	A	55175727	3	1	34	1	0	0	0	0	1	0	0	0	2021	1232	43	4	3925	4	C1orf175	1	55175727	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2365242	55175727	194074894	16	4483										
USP1	7398	genome.wustl.edu	37	chr1	62910563	62910563	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctaaggtagaagaaatacctCatccgaaagaggaaatgaat	9	6	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:62910563C>G	ENST00000339950.4	+	6	1527	c.712C>G	c.(712-714)Cat>Gat	p.H238D	USP1_ENST00000371146.1_Missense_Mutation_p.H238D	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	238	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGAAATACCTCATCCGAAAGA	0.353																																					Ovarian(122;1846 2315 3982 19504)												0													79	83	82					1																	62910563		2203	4298	6501	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.712C>G	1.37:g.62910563C>G	ENSP00000343526:p.His238Asp		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H238D	ENST00000339950.4	37	c.712	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199388	0.06219	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.16897	2.31;2.31	5.27	-0.0605	0.13788	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.180640	0.06000	N	0.647650	T	0.07863	0.0197	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.37454	-0.9705	10	0.12430	T	0.62	-0.0518	1.2761	0.02030	0.3885:0.2891:0.0999:0.2225	.	238	O94782	UBP1_HUMAN	D	238	ENSP00000360188:H238D;ENSP00000343526:H238D	ENSP00000343526:H238D	H	+	1	0	USP1	62683151	0.000000	0.05858	0.905000	0.35620	0.821000	0.46438	-0.213000	0.09305	0.060000	0.16281	-0.284000	0.09977	CAT	USP1	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.353	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	C	NM_001017415		62910563	1	no_errors	ENST00000339950	ensembl	human	known	70_37	missense	SNP	0.006	G	G	62910563	C	G	62910563	3	3	34	1	0	0	0	0	1	0	0	0	17071	826	29	1	730	1	USP1	1	62910563	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7734836	62910563	186340058	17	4484										
PDE4B	5142	genome.wustl.edu	37	chr1	66833405	66833405	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aacttgctttgatgtataatGatgaatctgtgttggaaaat	9	3	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:66833405G>A	ENST00000329654.4	+	14	1598	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	PDE4B_ENST00000371045.5_Missense_Mutation_p.D299N|PDE4B_ENST00000480109.2_Missense_Mutation_p.D238N|PDE4B_ENST00000423207.2_Missense_Mutation_p.D456N|PDE4B_ENST00000371049.3_Missense_Mutation_p.D471N	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	471					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GATGTATAATGATGAATCTGT	0.358																																																	0													144	141	142					1																	66833405		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1411G>A	1.37:g.66833405G>A	ENSP00000332116:p.Asp471Asn		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D471N	ENST00000329654.4	37	c.1411	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989460	0.93106	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.41	5.41	0.78517	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.999;1.0;1.0;1.0	D	0.84307	0.0508	10	0.51188	T	0.08	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	238;456;341;461;471	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	N	471;471;471;456;299;238	ENSP00000332116:D471N;ENSP00000342637:D471N;ENSP00000360088:D471N;ENSP00000392947:D456N;ENSP00000360084:D299N;ENSP00000432592:D238N	ENSP00000332116:D471N	D	+	1	0	PDE4B	66605993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.814000	0.96858	0.591000	0.81541	GAT	PDE4B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.358	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66833405	1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66833405	G	A	66833405	3	1	34	1	0	0	0	0	1	0	0	0	11664	1290	45	1	1819	1	PDE4B	1	66833405	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3922842	66833405	182417216	18	4485										
FUBP1	8880	genome.wustl.edu	37	chr1	78444657	78444657	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cgccaccagctgagccagaaGaggggggaggcactgttgaa	16	10	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:78444657G>A	ENST00000370768.2	-	1	113	c.32C>T	c.(31-33)tCt>tTt	p.S11F	FUBP1_ENST00000370767.1_Missense_Mutation_p.S11F|FUBP1_ENST00000436586.2_Missense_Mutation_p.S11F	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	11					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGCCAGAAGAGGGGGGAGG	0.562			"F, N"		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													37	42	40					1																	78444657		2203	4300	6503	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.32C>T	1.37:g.78444657G>A	ENSP00000359804:p.Ser11Phe		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.S11F	ENST00000370768.2	37	c.32	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150519	0.57151	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.52983	1.4;1.38;1.35;0.64	5.23	5.23	0.72850	.	0.307687	0.36101	N	0.002791	T	0.32941	0.0846	L	0.40543	1.245	0.18873	N	0.999989	D;P	0.62365	0.991;0.834	P;B	0.47744	0.556;0.4	T	0.19063	-1.0317	10	0.66056	D	0.02	-6.6769	13.6824	0.62493	0.0:0.0:0.8453:0.1547	.	11;11	B4DT31;Q96AE4	.;FUBP1_HUMAN	F	11	ENSP00000359803:S11F;ENSP00000359804:S11F;ENSP00000389536:S11F;ENSP00000402630:S11F	ENSP00000294623:S11F	S	-	2	0	FUBP1	78217245	0.967000	0.33354	0.453000	0.27007	0.920000	0.55202	4.968000	0.63728	2.599000	0.87857	0.561000	0.74099	TCT	FUBP1	-	NULL		0.562	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	G	NM_003902		78444657	-1	no_errors	ENST00000436586	ensembl	human	known	70_37	missense	SNP	0.117	A	A	78444657	G	A	78444657	3	1	34	1	0	0	0	0	1	0	0	0	6110	942	33	1	1982	1	FUBP1	1	78444657	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	11611252	78444657	170805964	19	4486										
GBP2	2634	genome.wustl.edu	37	chr1	89583317	89583317	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agcagtgatgggttctccatCtacttccagttccagggtga	11	10	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:89583317C>G	ENST00000370466.3	-	5	836	c.568G>C	c.(568-570)Gat>Cat	p.D190H	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	190	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GGTTCTCCATCTACTTCCAGT	0.443																																																	0													107	104	105					1																	89583317		2203	4300	6503	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.568G>C	1.37:g.89583317C>G	ENSP00000359497:p.Asp190His		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.D190H	ENST00000370466.3	37	c.568	CCDS719.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534368	0.45073	.	.	ENSG00000162645	ENST00000370466	T	0.62498	0.02	3.91	-7.17	0.01511	Guanylate-binding protein, N-terminal (1);	0.850130	0.09976	U	0.731684	T	0.63117	0.2484	M	0.91140	3.18	0.09310	N	1	D	0.57571	0.98	P	0.58820	0.846	T	0.66089	-0.6010	10	0.72032	D	0.01	-1.3022	8.2709	0.31844	0.0:0.3143:0.1105:0.5751	.	190	P32456	GBP2_HUMAN	H	190	ENSP00000359497:D190H	ENSP00000359497:D190H	D	-	1	0	GBP2	89355905	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.064000	0.01387	-1.807000	0.01236	0.655000	0.94253	GAT	GBP2	-	pfam_Guanylate-bd_N		0.443	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	C	NM_004120		89583317	-1	no_errors	ENST00000370466	ensembl	human	known	70_37	missense	SNP	0.000	G	G	89583317	C	G	89583317	3	3	34	1	0	0	0	0	1	0	0	0	6293	913	32	1	1235	1	GBP2	1	89583317	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	11138660	89583317	159667304	20	4487										
SLC25A24	29957	genome.wustl.edu	37	chr1	108681794	108681794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gactccagggtttacagaatCttttgcaaaattatccagcc	7	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:108681794C>G	ENST00000565488.1	-	9	1354	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D360H	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	379					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTTACAGAATCTTTTGCAAAA	0.443																																																	0													63	70	68					1																	108681794		2203	4300	6503	SO:0001583	missense	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.1135G>C	1.37:g.108681794C>G	ENSP00000457733:p.Asp379His		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.D379H	ENST00000565488.1	37	c.1135	CCDS41361.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737212	0.30774	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.77620	-1.11	5.5	4.59	0.56863	Mitochondrial carrier domain (2);	0.179720	0.64402	D	0.000019	T	0.62319	0.2418	M	0.67569	2.06	0.80722	D	1	B;B	0.19445	0.021;0.036	B;B	0.23419	0.02;0.046	T	0.68047	-0.5512	10	0.66056	D	0.02	-16.1894	6.9174	0.24367	0.0:0.7445:0.0:0.2555	.	379;360	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	H	379;360	ENSP00000359058:D360H	ENSP00000264128:D379H	D	-	1	0	SLC25A24	108483317	1.000000	0.71417	0.630000	0.29268	0.583000	0.36354	4.779000	0.62375	1.558000	0.49541	0.655000	0.94253	GAT	SLC25A24	-	superfamily_Mt_carrier_dom		0.443	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	SLC25A24	HGNC	protein_coding	OTTHUMT00000030280.2	C	NM_013386		108681794	-1	no_errors	ENST00000565488	ensembl	human	known	70_37	missense	SNP	0.998	G	G	108681794	C	G	108681794	3	3	34	1	0	0	0	0	1	0	0	0	14517	913	32	1	306	1	SLC25A24	1	108681794	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	19098477	108681794	140568827	21	4488										
CLCC1	23155	genome.wustl.edu	37	chr1	109492486	109492486	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgataacattctgatatttCatcagcacatgacaagtcag	7	8	4	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:109492486C>T	ENST00000369971.2	-	3	316	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CLCC1_ENST00000369976.1_Missense_Mutation_p.E63K|CLCC1_ENST00000302500.4_Missense_Mutation_p.E63K|CLCC1_ENST00000369968.2_Missense_Mutation_p.E63K|CLCC1_ENST00000369970.3_Missense_Mutation_p.E63K|CLCC1_ENST00000356970.2_Missense_Mutation_p.E63K|CLCC1_ENST00000348264.2_Missense_Mutation_p.E63K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.E63K|CLCC1_ENST00000369969.2_Missense_Mutation_p.E63K	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	63						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCTGATATTTCATCAGCACAT	0.259																																																	0													61	63	62					1																	109492486		2203	4291	6494	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.187G>A	1.37:g.109492486C>T	ENSP00000358988:p.Glu63Lys		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.E63K	ENST00000369971.2	37	c.187	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134616	0.56828	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.41	5.41	0.78517	.	0.341890	0.34067	N	0.004288	T	0.58366	0.2117	L	0.52266	1.64	0.24783	N	0.992806	D;D;P;D	0.89917	1.0;1.0;0.89;0.994	D;D;P;P	0.87578	0.998;0.998;0.503;0.9	T	0.55566	-0.8121	10	0.87932	D	0	-28.9614	15.0398	0.71781	0.0:1.0:0.0:0.0	.	63;63;63;63	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	K	63	ENSP00000349456:E63K;ENSP00000358988:E63K;ENSP00000411591:E63K;ENSP00000358986:E63K;ENSP00000358985:E63K;ENSP00000358993:E63K;ENSP00000358987:E63K;ENSP00000337243:E63K;ENSP00000306552:E63K	ENSP00000306552:E63K	E	-	1	0	CLCC1	109294009	0.986000	0.35501	0.198000	0.23420	0.221000	0.24807	3.952000	0.56691	2.683000	0.91414	0.563000	0.77884	GAA	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.259	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	C	NM_015127		109492486	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	missense	SNP	0.880	T	T	109492486	C	T	109492486	3	4	34	1	0	0	0	0	1	0	0	0	3465	835	29	1	1504	1	CLCC1	1	109492486	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	810692	109492486	139758135	22	4489										
HBXIP	10542	genome.wustl.edu	37	chr1	110950260	110950260	+	5'UTR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	catcccacccaccgaccactCcggctcagaacccagcggca	7	21	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:110950260C>G	ENST00000602318.1	-	0	70				LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.E77Q			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											ACCGACCACTCCGGCTCAGAA	0.662																																																	0													71	61	64					1																	110950260		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.-18G>C	1.37:g.110950260C>G			Q6IBD8	Missense_Mutation	SNP	NULL	p.E77Q	ENST00000602318.1	37	c.229		1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711603	0.30322	.	.	ENSG00000134248	ENST00000256644	.	.	.	3.94	1.07	0.20283	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22730	-1.0208	5	0.39692	T	0.17	0.7469	6.1965	0.20553	0.0:0.5726:0.0:0.4274	.	.	.	.	Q	77	.	ENSP00000256644:E77Q	E	-	1	0	HBXIP	110751783	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.281000	0.18810	0.261000	0.21753	-0.253000	0.11424	GAG	LAMTOR5	-	NULL		0.662	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	LAMTOR5	HGNC	protein_coding	OTTHUMT00000467909.1	C	NM_006402		110950260	-1	no_errors	ENST00000256644	ensembl	human	known	70_37	missense	SNP	0.000	G	G	110950260	C	G	110950260	1	3	34	0	1	0	0	0	0	0	0	0	7008	864	30	1		1	HBXIP	1	110950260	5'UTR	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1457774	110950260	138300361	23	4490										
WDR3	10885	genome.wustl.edu	37	chr1	118485082	118485082	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tacattctagcaaaggagagGaggaagatcctgaggttaat	12	5	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:118485082G>C	ENST00000349139.5	+	10	1059	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	338						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAAAGGAGAGGAGGAAGATCC	0.358																																																	0													90	92	91					1																	118485082		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1012G>C	1.37:g.118485082G>C	ENSP00000308179:p.Glu338Gln			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E338Q	ENST00000349139.5	37	c.1012	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985527	0.18889	.	.	ENSG00000065183	ENST00000349139	T	0.55930	0.49	5.3	3.32	0.38043	WD40-repeat-containing domain (1);	0.212304	0.48767	D	0.000178	T	0.21267	0.0512	L	0.31476	0.935	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.06303	-1.0834	10	0.24483	T	0.36	-19.2248	11.4432	0.50109	0.0706:0.1259:0.8035:0.0	.	338	Q9UNX4	WDR3_HUMAN	Q	338	ENSP00000308179:E338Q	ENSP00000308179:E338Q	E	+	1	0	WDR3	118286605	1.000000	0.71417	0.846000	0.33378	0.011000	0.07611	2.948000	0.49066	1.367000	0.46095	-0.142000	0.14014	GAG	WDR3	-	pfscan_WD40_repeat_dom		0.358	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118485082	1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	0.996	C	C	118485082	G	C	118485082	3	2	34	1	0	0	0	0	1	0	0	0	17316	1175	41	1	1046	1	WDR3	1	118485082	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7534822	118485082	130765539	24	4491										
ITGA10	8515	genome.wustl.edu	37	chr1	145539770	145539770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tctctgttggactattgaggCtggttcacaatgaatttttc	9	7	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:145539770C>A	ENST00000369304.3	+	27	3377	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M	ITGA10_ENST00000538811.1_Missense_Mutation_p.L937M|RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000539363.1_Missense_Mutation_p.L925M	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1068					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTATTGAGGCTGGTTCACAA	0.478																																																	0													133	128	130					1																	145539770		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3202C>A	1.37:g.145539770C>A	ENSP00000358310:p.Leu1068Met		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L1068M	ENST00000369304.3	37	c.3202	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330989	0.41297	.	.	ENSG00000143127	ENST00000369304;ENST00000539363;ENST00000538811	T;T;T	0.50813	0.73;0.73;0.73	5.59	2.46	0.29980	.	0.387908	0.23387	N	0.048733	T	0.25269	0.0614	L	0.47716	1.5	0.26822	N	0.968773	P;P;B	0.40398	0.587;0.716;0.452	B;B;B	0.43575	0.424;0.366;0.243	T	0.04723	-1.0931	10	0.49607	T	0.09	.	8.2993	0.32004	0.0:0.4808:0.4333:0.0859	.	937;925;1068	F5GY13;B2RTV5;O75578	.;.;ITA10_HUMAN	M	1068;925;937	ENSP00000358310:L1068M;ENSP00000439894:L925M;ENSP00000440011:L937M	ENSP00000358310:L1068M	L	+	1	2	ITGA10	144251127	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.936000	0.28938	0.685000	0.31468	0.563000	0.77884	CTG	ITGA10	-	NULL		0.478	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	C	NM_003637		145539770	1	no_errors	ENST00000369304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145539770	C	A	145539770	3	1	34	1	0	0	0	0	1	0	0	0	7893	796	28	4	3308	4	ITGA10	1	145539770	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	27054688	145539770	103710851	25	4492										
HIST2H2AB	317772	genome.wustl.edu	37	chr1	149859223	149859223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cacggctagttgcagatggcGagggatgatgcgcgtcttct	15	9	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:149859223G>A	ENST00000331128.3	-	1	243	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R82G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGCAGATGGCGAGGGATGATG	0.612																																																	1	Substitution - Missense(1)	cervix(1)											95	88	91					1																	149859223		2203	4300	6503	SO:0001583	missense	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.244C>T	1.37:g.149859223G>A	ENSP00000332790:p.Arg82Cys			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R82C	ENST00000331128.3	37	c.244	CCDS938.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257722	0.59321	.	.	ENSG00000184270	ENST00000331128	T	0.72505	-0.66	4.49	4.49	0.54785	Histone-fold (2);Histone core (1);Histone H2A (2);	0.100753	0.43919	D	0.000501	D	0.82912	0.5140	M	0.92169	3.28	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.87005	0.2119	10	0.72032	D	0.01	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	82	Q8IUE6	H2A2B_HUMAN	C	82	ENSP00000332790:R82C	ENSP00000332790:R82C	R	-	1	0	HIST2H2AB	148125847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	2.480000	0.83734	0.561000	0.74099	CGC	HIST2H2AB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.612	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	HGNC	protein_coding	OTTHUMT00000033440.1	G	NM_175065		149859223	-1	no_errors	ENST00000331128	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149859223	G	A	149859223	3	1	34	1	0	0	0	0	1	0	0	0	7197	1058	37	1	152	1	HIST2H2AB	1	149859223	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4319453	149859223	99391398	26	4493										
POGZ	23126	genome.wustl.edu	37	chr1	151379713	151379713	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caataagttttttcttacctCacagaatttttaaacaaagc	3	8	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:151379713C>G	ENST00000271715.2	-	16	2744	c.2430G>C	c.(2428-2430)gtG>gtC	p.V810V	POGZ_ENST00000368863.2_Silent_p.V715V|POGZ_ENST00000409503.1_Silent_p.V801V|POGZ_ENST00000361398.3_Silent_p.V757V|POGZ_ENST00000491586.1_Silent_p.V766V|POGZ_ENST00000540984.1_Silent_p.V172V|POGZ_ENST00000531094.1_Silent_p.V748V|POGZ_ENST00000392723.1_Silent_p.V757V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	810	Required for interaction with CBX5.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCTTACCTCACAGAATTTT	0.348																																																	0													62	64	63					1																	151379713		2203	4300	6503	SO:0001819	synonymous_variant	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2430G>C	1.37:g.151379713C>G			B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.V810	ENST00000271715.2	37	c.2430	CCDS997.1	1																																																																																			POGZ	-	NULL		0.348	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	C	NM_207171		151379713	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	silent	SNP	1.000	G	G	151379713	C	G	151379713	2	3	34	1	0	0	0	0	0	0	0	1	12210	813	29	1		1	POGZ	1	151379713	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1520490	151379713	97870908	27	4494										
RORC	6097	genome.wustl.edu	37	chr1	151785517	151785517	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gagaagtcaaagatggagctGatgagctcgctgcagcctga	14	8	1	5	rs539370245		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:151785517G>A	ENST00000318247.6	-	9	1298	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	RORC_ENST00000356728.6_Silent_p.I376I|RORC_ENST00000392697.3_Silent_p.I451I|RORC_ENST00000480719.1_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	397	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGATGGAGCTGATGAGCTCGC	0.527																																																	0													92	75	81					1																	151785517		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1191C>T	1.37:g.151785517G>A			Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.I451	ENST00000318247.6	37	c.1353	CCDS1004.1	1																																																																																			RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.527	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151785517	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	silent	SNP	1.000	A	A	151785517	G	A	151785517	2	1	34	1	0	0	0	0	0	0	0	1	13560	1280	45	1		1	RORC	1	151785517	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	405804	151785517	97465104	28	4495										
THBS3	7059	genome.wustl.edu	37	chr1	155167918	155167918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gataggcccgaaaatccgtaAgcgttacctctgcactttca	8	12	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:155167918A>G	ENST00000368378.3	-	18	2188	c.2168T>C	c.(2167-2169)cTt>cCt	p.L723P	RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.L252P|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.L120P|RP11-263K19.4_ENST00000454348.1_RNA|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.L603P|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	723					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAAATCCGTAAGCGTTACCTC	0.542																																																	0													165	136	146					1																	155167918		2203	4300	6503	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2168T>C	1.37:g.155167918A>G	ENSP00000357362:p.Leu723Pro		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.L723P	ENST00000368378.3	37	c.2168	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475816	0.63737	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.97850	-1.52;-4.57;-1.57;-4.56	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	D	0.98488	0.9496	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.77004	0.984;0.972;0.972;0.989	D	0.98725	1.0710	10	0.46703	T	0.11	-18.3036	12.8352	0.57770	1.0:0.0:0.0:0.0	.	603;723;723;723	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	P	723;120;603;252	ENSP00000357362:L723P;ENSP00000444792:L120P;ENSP00000392207:L603P;ENSP00000437353:L252P	ENSP00000357362:L723P	L	-	2	0	THBS3	153434542	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.193000	0.77780	2.132000	0.65825	0.460000	0.39030	CTT	THBS3	-	NULL		0.542	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	A	NM_007112		155167918	-1	no_errors	ENST00000368378	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155167918	A	G	155167918	3	3	34	1	0	0	0	0	1	0	0	0	15885	72	3	5	726	5	THBS3	1	155167918	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	3382401	155167918	94082703	29	4496										
BCAN	63827	genome.wustl.edu	37	chr1	156615935	156615935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgttctggaaggagacagctCaggtaagcaaccccacttgg	12	10	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:156615935C>T	ENST00000329117.5	+	2	425	c.89C>T	c.(88-90)tCa>tTa	p.S30L	BCAN_ENST00000361588.5_Missense_Mutation_p.S30L|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	30					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGACAGCTCAGGTAAGCAA	0.602																																																	0													39	39	39					1																	156615935		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.89C>T	1.37:g.156615935C>T	ENSP00000331210:p.Ser30Leu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.S30L	ENST00000329117.5	37	c.89	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383337	0.42207	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T;T	0.24350	1.86;2.43;2.69;2.11;3.14	4.32	4.32	0.51571	.	0.603260	0.13708	N	0.368358	T	0.13286	0.0322	L	0.34521	1.04	0.40377	D	0.9794	B;B	0.33883	0.43;0.377	B;B	0.37198	0.243;0.117	T	0.05305	-1.0893	10	0.66056	D	0.02	-5.7178	12.4825	0.55852	0.0:1.0:0.0:0.0	.	30;30	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	30	ENSP00000392731:S30L;ENSP00000331210:S30L;ENSP00000389898:S30L;ENSP00000401709:S30L;ENSP00000354925:S30L	ENSP00000255029:S30L	S	+	2	0	BCAN	154882559	0.997000	0.39634	1.000000	0.80357	0.436000	0.31835	1.167000	0.31847	2.404000	0.81709	0.462000	0.41574	TCA	BCAN	-	NULL		0.602	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	C	NM_021948		156615935	1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156615935	C	T	156615935	3	4	34	1	0	0	0	0	1	0	0	0	1346	838	29	1	91	1	BCAN	1	156615935	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1448017	156615935	92634686	30	4497										
VSIG8	391123	genome.wustl.edu	37	chr1	159827565	159827565	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggagctgtggaaggactcctGgtaggacagctctgagtggt	17	7	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:159827565G>A	ENST00000368100.1	-	4	757	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	C1orf204_ENST00000368102.1_5'Flank|C1orf204_ENST00000491974.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	208	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AAGGACTCCTGGTAGGACAGC	0.587																																																	0													58	60	59					1																	159827565		2203	4300	6503	SO:0001587	stop_gained	391123				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.622C>T	1.37:g.159827565G>A	ENSP00000357080:p.Gln208*		Q5VU14	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.Q208*	ENST00000368100.1	37	c.622	CCDS30913.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699004	0.88830	.	.	ENSG00000243284	ENST00000368100	.	.	.	4.8	3.88	0.44766	.	0.244503	0.40554	N	0.001078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.2456	0.48996	0.0:0.1844:0.8156:0.0	.	.	.	.	X	208	.	ENSP00000357080:Q208X	Q	-	1	0	VSIG8	158094189	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	2.913000	0.48790	1.012000	0.39366	0.561000	0.74099	CAG	VSIG8	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.587	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG8	HGNC	protein_coding	OTTHUMT00000085978.8	G	NM_001013661		159827565	-1	no_errors	ENST00000368100	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	159827565	G	A	159827565	4	1	34	1	0	0	0	0	0	1	0	0	17257	1357	47	4	638	4	VSIG8	1	159827565	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3211630	159827565	89423056	31	4498										
NUF2	83540	genome.wustl.edu	37	chr1	163317606	163317606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gagtcagaactgaagaaattGaagactgaagaaaattcgtt	10	4	1	7			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:163317606G>A	ENST00000271452.3	+	12	1281	c.1002G>A	c.(1000-1002)ttG>ttA	p.L334L	NUF2_ENST00000524800.1_Silent_p.L287L|NUF2_ENST00000367900.3_Silent_p.L334L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	334	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGAAGAAATTGAAGACTGAAG	0.333																																																	0													75	78	77					1																	163317606		2203	4300	6503	SO:0001819	synonymous_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1002G>A	1.37:g.163317606G>A			Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	pfam_Kinetochore_Nuf2	p.L334	ENST00000271452.3	37	c.1002	CCDS1245.1	1																																																																																			NUF2	-	NULL		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	G	NM_145697		163317606	1	no_errors	ENST00000271452	ensembl	human	known	70_37	silent	SNP	0.923	A	A	163317606	G	A	163317606	2	1	34	1	0	0	0	0	0	0	0	1	10771	1281	45	1		1	NUF2	1	163317606	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3490041	163317606	85933015	32	4499										
MGST3	4259	genome.wustl.edu	37	chr1	165623517	165623517	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgtagcccttttttcttagcGtatagcttctggcctgggct	10	10	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:165623517G>A	ENST00000367889.3	+	5	691	c.251G>A	c.(250-252)cGt>cAt	p.R84H	MGST3_ENST00000367886.2_Splice_Site_p.R98H|MGST3_ENST00000367885.1_Splice_Site_p.R98H|MGST3_ENST00000367883.1_Splice_Site_p.R98H|MGST3_ENST00000367884.2_Splice_Site_p.R84H|MGST3_ENST00000367888.4_Splice_Site_p.R84H	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	84					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TTTTCTTAGCGTATAGCTTCT	0.383																																																	0													240	225	230					1																	165623517		2203	4300	6503	SO:0001630	splice_region_variant	4259			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"Glutathione S-transferases / Microsomal"	7064	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase III", "microsomal GST-3", "microsomal GST-III"	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.250-1G>A	1.37:g.165623517G>A			B2R592|Q6ICN4	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG	p.R98H	ENST00000367889.3	37	c.293	CCDS1249.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382734	0.82792	.	.	ENSG00000143198	ENST00000367889;ENST00000367888;ENST00000367885;ENST00000404549;ENST00000367884;ENST00000367883;ENST00000367886	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.9	4.98	0.66077	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.046129	0.85682	D	0.000000	T	0.61615	0.2361	M	0.85945	2.785	0.51482	D	0.999923	D;D	0.89917	1.0;0.979	D;P	0.72625	0.978;0.781	T	0.66488	-0.5911	9	0.14656	T	0.56	-15.5675	12.5905	0.56439	0.0798:0.0:0.9202:0.0	.	98;84	Q5VV89;O14880	.;MGST3_HUMAN	H	84;84;98;98;84;98;98	ENSP00000356864:R84H;ENSP00000356863:R84H;ENSP00000356860:R98H;ENSP00000384372:R98H;ENSP00000356859:R84H;ENSP00000356858:R98H;ENSP00000356861:R98H	ENSP00000356858:R98H	R	+	2	0	MGST3	163890141	1.000000	0.71417	0.908000	0.35775	0.916000	0.54674	7.684000	0.84104	1.492000	0.48499	0.563000	0.77884	CGT	MGST3	-	pfam_Membr-assoc_MAPEG		0.383	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST3	HGNC	protein_coding	OTTHUMT00000083797.3	G	NM_004528	Missense_Mutation	165623517	1	no_errors	ENST00000367883	ensembl	human	known	70_37	missense	SNP	0.997	A	A	165623517	G	A	165623517	5	1	34	1	0	0	0	0	0	0	1	0	9585	1159	40	2	265	2	MGST3	1	165623517	Splice_Site	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2305911	165623517	83627104	33	4500										
TOR3A	64222	genome.wustl.edu	37	chr1	179054980	179054980	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agtgactgtgtcaggatgttCatcgccacgttccactttcc	9	12	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:179054980C>T	ENST00000367627.3	+	3	1343	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.F197F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	197					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGGATGTTCATCGCCACGT	0.592																																																	0													95	76	83					1																	179054980		2203	4300	6503	SO:0001819	synonymous_variant	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.591C>T	1.37:g.179054980C>T			B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	pfam_Torsin	p.F197	ENST00000367627.3	37	c.591	CCDS1329.1	1																																																																																			TOR3A	-	pfam_Torsin		0.592	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR3A	HGNC	protein_coding	OTTHUMT00000084927.1	C	NM_022371		179054980	1	no_errors	ENST00000367627	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179054980	C	T	179054980	2	4	34	1	0	0	0	0	0	0	0	1	16407	825	29	1		1	TOR3A	1	179054980	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	13431463	179054980	70195641	34	4501										
HMCN1	83872	genome.wustl.edu	37	chr1	185902924	185902924	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggtttctagtgaaggtggatCatcagccgcttcagttttcc	11	9	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:185902924C>T	ENST00000271588.4	+	11	2025	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S599L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	599	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGGTGGATCATCAGCCGCT	0.403																																																	0													152	149	150					1																	185902924		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1796C>T	1.37:g.185902924C>T	ENSP00000271588:p.Ser599Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.S599L	ENST00000271588.4	37	c.1796	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687184	0.14973	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.67	3.78	0.43462	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.519042	0.20560	N	0.089936	T	0.74458	0.3719	L	0.52823	1.66	0.09310	N	1	D	0.60160	0.987	D	0.67382	0.951	T	0.64292	-0.6442	10	0.32370	T	0.25	.	11.5408	0.50665	0.0:0.8066:0.1251:0.0683	.	599	Q96RW7	HMCN1_HUMAN	L	599	ENSP00000271588:S599L;ENSP00000356462:S599L	ENSP00000271588:S599L	S	+	2	0	HMCN1	184169547	0.073000	0.21202	0.106000	0.21319	0.088000	0.18126	1.510000	0.35790	0.741000	0.32674	0.655000	0.94253	TCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		185902924	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.006	T	T	185902924	C	T	185902924	3	4	34	1	0	0	0	0	1	0	0	0	7240	838	29	1	1838	1	HMCN1	1	185902924	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6847944	185902924	63347697	35	4502										
TROVE2	6738	genome.wustl.edu	37	chr1	193038217	193038217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtaaaccaaatgcagccactGaatgagaagcagatagccaa	9	9	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:193038217G>A	ENST00000367446.3	+	2	243	c.33G>A	c.(31-33)ctG>ctA	p.L11L	TROVE2_ENST00000367441.1_Silent_p.L11L|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Silent_p.L11L|TROVE2_ENST00000400968.2_Silent_p.L11L|TROVE2_ENST00000367443.1_Silent_p.L11L|TROVE2_ENST00000367445.3_Silent_p.L11L	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	11					cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGCAGCCACTGAATGAGAAGC	0.388																																																	0													90	85	87					1																	193038217		1901	4128	6029	SO:0001819	synonymous_variant	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.33G>A	1.37:g.193038217G>A			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.L11	ENST00000367446.3	37	c.33	CCDS1379.1	1																																																																																			TROVE2	-	NULL		0.388	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	G	NM_004600		193038217	1	no_errors	ENST00000367441	ensembl	human	known	70_37	silent	SNP	0.986	A	A	193038217	G	A	193038217	2	1	34	1	0	0	0	0	0	0	0	1	16607	1277	45	1		1	TROVE2	1	193038217	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7135293	193038217	56212404	36	4503										
ZBTB41	360023	genome.wustl.edu	37	chr1	197128511	197128511	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgaatgatgctcattcgtaGaaatattttgaacaccagta	7	6	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:197128511G>C	ENST00000367405.4	-	10	2776	c.2708C>G	c.(2707-2709)tCt>tGt	p.S903C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	903					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTCATTCGTAGAAATATTTTG	0.373																																																	0													104	104	104					1																	197128511		2203	4299	6502	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2708C>G	1.37:g.197128511G>C	ENSP00000356375:p.Ser903Cys		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S903C	ENST00000367405.4	37	c.2708	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098127	0.37048	.	.	ENSG00000177888	ENST00000367405	T	0.07327	3.2	5.63	4.71	0.59529	.	0.169904	0.27668	N	0.018345	T	0.06234	0.0161	N	0.19112	0.55	0.38483	D	0.947767	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.45353	T	0.12	.	10.2347	0.43275	0.0712:0.1366:0.7922:0.0	.	903	Q5SVQ8	ZBT41_HUMAN	C	903	ENSP00000356375:S903C	ENSP00000356375:S903C	S	-	2	0	ZBTB41	195395134	1.000000	0.71417	0.014000	0.15608	0.818000	0.46254	7.282000	0.78630	1.358000	0.45922	0.591000	0.81541	TCT	ZBTB41	-	NULL		0.373	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	G	NM_194314		197128511	-1	no_errors	ENST00000367405	ensembl	human	known	70_37	missense	SNP	0.958	C	C	197128511	G	C	197128511	3	2	34	1	0	0	0	0	1	0	0	0	17573	942	33	1	25	1	ZBTB41	1	197128511	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4090294	197128511	52122110	37	4504										
C1orf116	79098	genome.wustl.edu	37	chr1	207196117	207196117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggagatcaggccagaatctCcaggggcagcctcagtgtgg	15	10	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:207196117C>A	ENST00000359470.5	-	4	1241	c.992G>T	c.(991-993)gGa>gTa	p.G331V	C1orf116_ENST00000461135.2_Missense_Mutation_p.G85V	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	331						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCCAGAATCTCCAGGGGCAGC	0.562																																																	0													41	45	43					1																	207196117		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.992G>T	1.37:g.207196117C>A	ENSP00000352447:p.Gly331Val		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.G331V	ENST00000359470.5	37	c.992	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610992	0.28712	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.09630	2.96;2.96	4.46	1.3	0.21679	.	0.332875	0.31167	N	0.008140	T	0.17195	0.0413	L	0.46157	1.445	0.18873	N	0.999988	D	0.59357	0.985	P	0.55824	0.785	T	0.04752	-1.0929	10	0.62326	D	0.03	-3.512	9.5068	0.39051	0.152:0.404:0.444:0.0	.	331	Q9BW04	SARG_HUMAN	V	331;85	ENSP00000352447:G331V;ENSP00000436862:G85V	ENSP00000352447:G331V	G	-	2	0	C1orf116	205262740	0.019000	0.18553	0.002000	0.10522	0.208000	0.24298	0.497000	0.22514	-0.025000	0.13918	0.561000	0.74099	GGA	C1orf116	-	NULL		0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207196117	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.003	A	A	207196117	C	A	207196117	3	1	34	1	0	0	0	0	1	0	0	0	1994	855	30	3	817	3	C1orf116	1	207196117	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10067606	207196117	42054504	38	4505										
MIA3	375056	genome.wustl.edu	37	chr1	222803422	222803422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agctggaagccttgctacaaGaaatgtcatcaaaactgaag	9	8	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:222803422G>A	ENST00000344922.5	+	4	2885	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	MIA3_ENST00000344441.6_Missense_Mutation_p.E954K|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	954					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTTGCTACAAGAAATGTCATC	0.428																																																	0													78	74	75					1																	222803422		1977	4182	6159	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2860G>A	1.37:g.222803422G>A	ENSP00000340900:p.Glu954Lys		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E954K	ENST00000344922.5	37	c.2860	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.36|12.36	1.915689|1.915689	0.33815|0.33815	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05025|.	3.51;3.51|.	5.25|5.25	4.34|4.34	0.51931|0.51931	.|.	.|.	.|.	.|.	.|.	T|T	0.50343|0.50343	0.1610|0.1610	L|L	0.55481|0.55481	1.735|1.735	0.27774|0.27774	N|N	0.943399|0.943399	B;P|.	0.38922|.	0.026;0.651|.	B;B|.	0.35931|.	0.015;0.214|.	T|T	0.43909|0.43909	-0.9362|-0.9362	9|5	0.72032|.	D|.	0.01|.	.|.	10.5918|10.5918	0.45314|0.45314	0.1494:0.0:0.8506:0.0|0.1494:0.0:0.8506:0.0	.|.	954;954|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|K	954|536	ENSP00000340900:E954K;ENSP00000340587:E954K|.	ENSP00000325973:E954K|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220870045|220870045	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.069000|0.069000	0.16628|0.16628	3.277000|3.277000	0.51654|0.51654	1.359000|1.359000	0.45940|0.45940	-0.448000|-0.448000	0.05591|0.05591	GAA|AGA	MIA3	-	NULL		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222803422	1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.884	A	A	222803422	G	A	222803422	3	1	34	1	0	0	0	0	1	0	0	0	9588	943	33	1	2874	1	MIA3	1	222803422	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	15607305	222803422	26447199	39	4506										
WNT3A	89780	genome.wustl.edu	37	chr1	228194835	228194835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccctctcgcgcggcgatggcCccactcggatacttcttact	9	17	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:228194835C>T	ENST00000284523.1	+	1	84	c.6C>T	c.(4-6)gcC>gcT	p.A2A	WNT3A_ENST00000366753.2_Silent_p.A2A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	2					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGGCGATGGCCCCACTCGGAT	0.736																																																	0													24	21	22					1																	228194835		2200	4299	6499	SO:0001819	synonymous_variant	89780			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.6C>T	1.37:g.228194835C>T			Q3SY79|Q3SY80|Q969P2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.A2	ENST00000284523.1	37	c.6	CCDS1564.1	1																																																																																			WNT3A	-	NULL		0.736	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	C	NM_033131		228194835	1	no_errors	ENST00000366753	ensembl	human	known	70_37	silent	SNP	0.545	T	T	228194835	C	T	228194835	2	4	34	1	0	0	0	0	0	0	0	1	17420	610	22	4		4	WNT3A	1	228194835	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5391413	228194835	21055786	40	4507										
OBSCN	84033	genome.wustl.edu	37	chr1	228556579	228556579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tccagcagaaccctgtgagcGaagcctccgacatttggtga	11	12	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:228556579G>A	ENST00000422127.1	+	89	19968	c.19924G>A	c.(19924-19926)Gaa>Aaa	p.E6642K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E7599K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6642	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTGAGCGAAGCCTCCGA	0.612																																																	0													76	80	78					1																	228556579		2014	4174	6188	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19924G>A	1.37:g.228556579G>A	ENSP00000409493:p.Glu6642Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E6642K	ENST00000422127.1	37	c.19924	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.508445|3.508445	0.64410|0.64410	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.64260|.	-0.09;-0.09|.	4.64|4.64	0.256|0.256	0.15567|0.15567	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.10664|0.10664	0.02|0.02	0.26062|0.26062	N|N	0.981334|0.981334	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.27020|0.27020	-1.0086|-1.0086	9|5	0.23891|.	T|.	0.37|.	.|.	4.4444|4.4444	0.11589|0.11589	0.3838:0.1723:0.4439:0.0|0.3838:0.1723:0.4439:0.0	.|.	6642|.	Q5VST9|.	OBSCN_HUMAN|.	K|Q	6642;4276|1258	ENSP00000409493:E6642K;ENSP00000355668:E4276K|.	ENSP00000355668:E4276K|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226623202|226623202	0.841000|0.841000	0.29509|0.29509	0.997000|0.997000	0.53966|0.53966	0.771000|0.771000	0.43674|0.43674	2.298000|2.298000	0.43602|0.43602	0.194000|0.194000	0.20326|0.20326	0.462000|0.462000	0.41574|0.41574	GAA|CGA	OBSCN	-	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		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228556579	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.477	A	A	228556579	G	A	228556579	3	1	34	1	0	0	0	0	1	0	0	0	10836	1059	37	1	21484	1	OBSCN	1	228556579	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	361744	228556579	20694042	41	4508										
RBM34	23029	genome.wustl.edu	37	chr1	235295225	235295225	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	attttgttgtttaaatttttCtttattaacagaacgcatga	5	4	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:235295225C>G	ENST00000408888.3	-	11	1326	c.1096G>C	c.(1096-1098)Gaa>Caa	p.E366Q	TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000366606.3_Missense_Mutation_p.E361Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	366						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTAAATTTTTCTTTATTAACA	0.328																																																	0													83	77	79					1																	235295225		1813	4068	5881	SO:0001583	missense	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1096G>C	1.37:g.235295225C>G	ENSP00000386226:p.Glu366Gln		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E366Q	ENST00000408888.3	37	c.1096	CCDS41477.2	1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402037	0.42613	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.74842	-0.88;-0.88;-0.88	5.64	3.77	0.43336	Nucleotide-binding, alpha-beta plait (1);	0.307811	0.36167	N	0.002741	T	0.72120	0.3421	M	0.79805	2.47	0.30692	N	0.751226	B	0.27910	0.193	B	0.25987	0.065	T	0.68096	-0.5499	10	0.30854	T	0.27	-26.9465	9.7272	0.40339	0.0:0.779:0.0:0.221	.	366	P42696	RBM34_HUMAN	Q	366;361;344	ENSP00000386226:E366Q;ENSP00000355565:E361Q;ENSP00000400000:E344Q	ENSP00000355565:E361Q	E	-	1	0	RBM34	233361848	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	2.510000	0.45468	0.741000	0.32674	0.563000	0.77884	GAA	RBM34	-	NULL		0.328	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	C	NM_015014		235295225	-1	no_errors	ENST00000408888	ensembl	human	known	70_37	missense	SNP	0.519	G	G	235295225	C	G	235295225	3	3	34	1	0	0	0	0	1	0	0	0	13161	922	32	1	200	1	RBM34	1	235295225	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6738646	235295225	13955396	42	4509										
ACTN2	88	genome.wustl.edu	37	chr1	236918438	236918438	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcgacaagctggagggagaCcatcagctcatccaggaggc	13	11	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:236918438C>G	ENST00000366578.4	+	17	2260	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E	ACTN2_ENST00000542672.1_Missense_Mutation_p.D698E|ACTN2_ENST00000546208.1_Missense_Mutation_p.D192E	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	698					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGAGGGAGACCATCAGCTCA	0.527																																																	0													200	192	195					1																	236918438		2203	4300	6503	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2094C>G	1.37:g.236918438C>G	ENSP00000355537:p.Asp698Glu		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.D698E	ENST00000366578.4	37	c.2094	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581877	0.28180	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.48522	0.81;0.81;0.81	4.62	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.72479	2.2	0.54753	D	0.99998	D;B;D;P	0.57899	0.981;0.0;0.981;0.926	D;B;D;D	0.81914	0.995;0.005;0.995;0.971	T	0.55717	-0.8097	10	0.30078	T	0.28	.	8.4454	0.32838	0.0:0.5733:0.0:0.4267	.	483;698;468;698	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	E	698;698;192;467	ENSP00000443495:D698E;ENSP00000355537:D698E;ENSP00000438384:D192E	ENSP00000355537:D698E	D	+	3	2	ACTN2	234985061	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.905000	0.28504	0.388000	0.25054	0.557000	0.71058	GAC	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	C	NM_001103		236918438	1	no_errors	ENST00000366578	ensembl	human	known	70_37	missense	SNP	0.999	G	G	236918438	C	G	236918438	3	3	34	1	0	0	0	0	1	0	0	0	205	506	18	4	2160	4	ACTN2	1	236918438	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1623213	236918438	12332183	43	4510										
RYR2	6262	genome.wustl.edu	37	chr1	237886488	237886488	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aagacttaccaaacaggactGatgatacctcagatccagag	8	10	1	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:237886488G>A	ENST00000366574.2	+	74	10932	c.10615G>A	c.(10615-10617)Gat>Aat	p.D3539N	RYR2_ENST00000542537.1_Missense_Mutation_p.D3523N|RYR2_ENST00000360064.6_Missense_Mutation_p.D3537N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3539					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACAGGACTGATGATACCTC	0.398																																																	0													183	172	175					1																	237886488		1868	4100	5968	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10615G>A	1.37:g.237886488G>A	ENSP00000355533:p.Asp3539Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D3537N	ENST00000366574.2	37	c.10609	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759483	0.69763	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96459	-4.02;-3.99;-4.02	5.9	4.99	0.66335	.	0.167461	0.36482	N	0.002579	D	0.91205	0.7229	N	0.08118	0	0.80722	D	1	B	0.23540	0.087	B	0.26416	0.069	D	0.88218	0.2895	10	0.56958	D	0.05	-11.2112	15.3396	0.74284	0.067:0.0:0.933:0.0	.	3539	Q92736	RYR2_HUMAN	N	3539;3537;3523;494	ENSP00000355533:D3539N;ENSP00000353174:D3537N;ENSP00000443798:D3523N	ENSP00000353174:D3537N	D	+	1	0	RYR2	235953111	1.000000	0.71417	0.431000	0.26735	0.975000	0.68041	9.539000	0.98076	1.509000	0.48786	0.455000	0.32223	GAT	RYR2	-	NULL		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237886488	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.997	A	A	237886488	G	A	237886488	3	1	34	1	0	0	0	0	1	0	0	0	13799	1290	45	1	10909	1	RYR2	1	237886488	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	968050	237886488	11364133	44	4511										
ACP1	52	genome.wustl.edu	37	chr2	277245	277245	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggggaatgactctgactttGagacggtgtaccagcagtgt	14	7	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:277245G>C	ENST00000272065.5	+	6	511	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	ACP1_ENST00000272067.6_Missense_Mutation_p.E140Q|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	140						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	CTCTGACTTTGAGACGGTGTA	0.483																																																	0													149	145	146					2																	277245		2203	4300	6503	SO:0001583	missense	52			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.418G>C	2.37:g.277245G>C	ENSP00000272065:p.Glu140Gln		A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.E140Q	ENST00000272065.5	37	c.418	CCDS1639.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593230	0.86953	.	.	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.33216	1.42;1.42	5.62	5.62	0.85841	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.68621	0.959;0.888	T	0.57619	-0.7780	10	0.59425	D	0.04	-14.7488	17.1625	0.86807	0.0:0.0:1.0:0.0	.	140;140	P24666-2;P24666	.;PPAC_HUMAN	Q	140	ENSP00000272067:E140Q;ENSP00000272065:E140Q	ENSP00000272065:E140Q	E	+	1	0	ACP1	267245	1.000000	0.71417	0.795000	0.32087	0.972000	0.66771	8.961000	0.93122	2.632000	0.89209	0.655000	0.94253	GAG	ACP1	-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase		0.483	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	HGNC	protein_coding	OTTHUMT00000195862.3	G			277245	1	no_errors	ENST00000272065	ensembl	human	known	70_37	missense	SNP	1.000	C	C	277245	G	C	277245	3	2	34	1	0	0	0	0	1	0	0	0	162	1291	45	1	595	1	ACP1	2	277245	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		277245	242922128	45	4512										
YWHAQ	10971	genome.wustl.edu	37	chr2	9770573	9770573	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gccttctggatcagctcagtCttctccatggcgggcgcggg	14	13	5	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:9770573C>G	ENST00000381844.4	-	1	172	c.9G>C	c.(7-9)aaG>aaC	p.K3N	YWHAQ_ENST00000238081.3_Missense_Mutation_p.K3N			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	3					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TCAGCTCAGTCTTCTCCATgg	0.726																																																	0													18	18	18					2																	9770573		2202	4299	6501	SO:0001583	missense	10971			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.9G>C	2.37:g.9770573C>G	ENSP00000371267:p.Lys3Asn		D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.K3N	ENST00000381844.4	37	c.9	CCDS1666.1	2	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740403	0.69304	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	T;T	0.51325	0.71;0.71	5.2	5.2	0.72013	14-3-3 domain (3);	0.073025	0.53938	D	0.000058	T	0.56337	0.1978	M	0.77820	2.39	0.49798	D	0.99982	B	0.29590	0.25	B	0.33960	0.173	T	0.61715	-0.7006	10	0.87932	D	0	.	18.7305	0.91733	0.0:1.0:0.0:0.0	.	3	P27348	1433T_HUMAN	N	3	ENSP00000238081:K3N;ENSP00000371267:K3N	ENSP00000238081:K3N	K	-	3	2	YWHAQ	9688024	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.506000	0.45433	2.412000	0.81896	0.491000	0.48974	AAG	YWHAQ	-	superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3		0.726	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	HGNC	protein_coding	OTTHUMT00000039014.4	C	NM_006826		9770573	-1	no_errors	ENST00000238081	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9770573	C	G	9770573	3	3	34	1	0	0	0	0	1	0	0	0	17536	912	32	1	748	1	YWHAQ	2	9770573	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	9493328	9770573	233428800	46	4513										
ODC1	4953	genome.wustl.edu	37	chr2	10584290	10584290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caaaagtcatcatctggactCcattattagcagcatactta	5	10	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:10584290C>T	ENST00000234111.4	-	5	890	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ODC1_ENST00000405333.1_Missense_Mutation_p.G127E|SNORA80B_ENST00000383906.1_RNA|ODC1_ENST00000446285.1_5'UTR	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	127					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CATCTGGACTCCATTATTAGC	0.423																																																	0													192	203	199					2																	10584290		2203	4300	6503	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.380G>A	2.37:g.10584290C>T	ENSP00000234111:p.Gly127Glu		Q53TU3|Q6LDS9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.G127E	ENST00000234111.4	37	c.380	CCDS1672.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.182586	0.94885	.	.	ENSG00000115758	ENST00000234111;ENST00000405333	T;T	0.57907	0.37;0.37	5.28	5.28	0.74379	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.150991	0.64402	N	0.000013	T	0.81034	0.4739	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.86355	0.1713	10	0.66056	D	0.02	.	18.9102	0.92481	0.0:1.0:0.0:0.0	.	127	P11926	DCOR_HUMAN	E	127	ENSP00000234111:G127E;ENSP00000385333:G127E	ENSP00000234111:G127E	G	-	2	0	ODC1	10501741	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.009000	0.70745	2.461000	0.83175	0.591000	0.81541	GGA	ODC1	-	pfam_De-COase2_N,prints_Orn_de-COase		0.423	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODC1	HGNC	protein_coding	OTTHUMT00000206896.2	C			10584290	-1	no_errors	ENST00000234111	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10584290	C	T	10584290	3	4	34	1	0	0	0	0	1	0	0	0	10849	855	30	1	1037	1	ODC1	2	10584290	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	813717	10584290	232615083	47	4514										
ATAD2B	54454	genome.wustl.edu	37	chr2	23988385	23988385	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctacaacttacctctttttaTtcttgcttccttaatttcct	1	12	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:23988385T>A	ENST00000238789.5	-	23	3590	c.3247A>T	c.(3247-3249)Ata>Tta	p.I1083L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1083						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCTTTTTATTCTTGCTTCC	0.403																																																	0													122	112	115					2																	23988385		1837	4083	5920	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3247A>T	2.37:g.23988385T>A	ENSP00000238789:p.Ile1083Leu		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.I1083L	ENST00000238789.5	37	c.3247	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.42|16.42	3.119577|3.119577	0.56505|0.56505	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91237	.|-2.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|1.117560	.|0.06691	.|N	.|0.769664	D|D	0.82628|0.82628	0.5078|0.5078	N|N	0.08118|0.08118	0|0	0.36393|0.36393	D|D	0.862628|0.862628	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.67534|0.67534	-0.5646|-0.5646	5|10	.|0.25106	.|T	.|0.35	.|.	12.7611|12.7611	0.57365|0.57365	0.0:0.0:0.1365:0.8635|0.0:0.0:0.1365:0.8635	.|.	.|1083;1078	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	D|L	358|1083;251	.|ENSP00000238789:I1083L	.|ENSP00000238789:I1083L	E|I	-|-	3|1	2|0	ATAD2B|ATAD2B	23841889|23841889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.034000|4.034000	0.57289|0.57289	2.174000|2.174000	0.68829|0.68829	0.402000|0.402000	0.26972|0.26972	GAA|ATA	ATAD2B	-	NULL		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	T	NM_017552		23988385	-1	no_errors	ENST00000238789	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23988385	T	A	23988385	3	1	34	1	0	0	0	0	1	0	0	0	1073	1493	52	5	1153	5	ATAD2B	2	23988385	Missense_Mutation	SNP	T	TCGA-C5-A2LZ-01A-11D-A20U-09	13404095	23988385	219210988	48	4515										
ITSN2	50618	genome.wustl.edu	37	chr2	24443894	24443894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atagccctgtcttttcctctCaattggctgcattgtgtcca	7	12	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:24443894C>G	ENST00000355123.4	-	30	4062	c.3619G>C	c.(3619-3621)Gag>Cag	p.E1207Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E1180Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E1207Q|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1207					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCTCTCAATTGGCTGC	0.468																																																	0													215	187	197					2																	24443894		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3619G>C	2.37:g.24443894C>G	ENSP00000347244:p.Glu1207Gln		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1207Q	ENST00000355123.4	37	c.3619	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677316	0.68042	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.64	4.64	0.57946	Dbl homology (DH) domain (2);	0.000000	0.37178	U	0.002204	T	0.45013	0.1321	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.999;0.989	D;D;P	0.72982	0.979;0.934;0.698	T	0.46610	-0.9179	10	0.72032	D	0.01	.	18.0763	0.89428	0.0:1.0:0.0:0.0	.	1207;1180;1207	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	Q	1180;1207;1180;1207	ENSP00000354561:E1180Q;ENSP00000347244:E1207Q;ENSP00000370250:E1180Q;ENSP00000384499:E1207Q	ENSP00000347244:E1207Q	E	-	1	0	ITSN2	24297398	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.228000	0.78079	2.586000	0.87340	0.561000	0.74099	GAG	ITSN2	-	superfamily_DH-domain		0.468	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24443894	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24443894	C	G	24443894	3	3	34	1	0	0	0	0	1	0	0	0	7947	835	29	1	1569	1	ITSN2	2	24443894	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	455509	24443894	218755479	49	4516										
BRE	9577	genome.wustl.edu	37	chr2	28117479	28117479	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatgctctcccctttcatatCtagcgtggtccggaatggaa	9	11	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:28117479C>G	ENST00000342045.2	+	3	197	c.56C>G	c.(55-57)tCt>tGt	p.S19C	BRE_ENST00000379632.2_Missense_Mutation_p.S19C|BRE_ENST00000603461.1_Intron|BRE_ENST00000379624.1_Missense_Mutation_p.S19C|BRE_ENST00000344773.2_Missense_Mutation_p.S19C|BRE_ENST00000361704.2_Missense_Mutation_p.S19C	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCTTTCATATCTAGCGTGGTC	0.418																																																	0													240	222	228					2																	28117479		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.56C>G	2.37:g.28117479C>G	ENSP00000339371:p.Ser19Cys			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.S19C	ENST00000342045.2	37	c.56	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048497	0.55110	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	5.91	0.95273	.	0.117600	0.64402	D	0.000013	T	0.60599	0.2281	N	0.08118	0	0.48696	D	0.999693	D;B;B;D	0.76494	0.999;0.001;0.001;0.974	D;B;B;D	0.79108	0.992;0.002;0.002;0.965	T	0.67197	-0.5731	9	0.51188	T	0.08	-26.7327	19.07	0.93130	0.0:1.0:0.0:0.0	.	19;19;19;19	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	C	19	.	ENSP00000339371:S19C	S	+	2	0	BRE	27970983	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.304000	0.65744	2.793000	0.96121	0.655000	0.94253	TCT	BRE	-	pfam_Brain/reproduct-express_prot		0.418	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	C			28117479	1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28117479	C	G	28117479	3	3	34	1	0	0	0	0	1	0	0	0	1512	913	32	1	58	1	BRE	2	28117479	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3673585	28117479	215081894	50	4517										
BIRC6	57448	genome.wustl.edu	37	chr2	32716581	32716581	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttcatgtattagtgaaatttCtttctggcaccagtccacat	6	9	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:32716581C>T	ENST00000421745.2	+	44	8430	c.8296C>T	c.(8296-8298)Ctt>Ttt	p.L2766F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2766					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTGAAATTTCTTTCTGGCAC	0.398																																					Pancreas(94;175 1509 16028 18060 45422)												0													162	149	154					2																	32716581		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8296C>T	2.37:g.32716581C>T	ENSP00000393596:p.Leu2766Phe		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L2766F	ENST00000421745.2	37	c.8296	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282991	0.59867	.	.	ENSG00000115760	ENST00000421745	T	0.81247	-1.47	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.84629	0.5514	L	0.29908	0.895	0.58432	D	0.999996	D	0.65815	0.995	D	0.72982	0.979	T	0.82973	-0.0191	10	0.33940	T	0.23	.	19.5565	0.95351	0.0:1.0:0.0:0.0	.	2766	Q9NR09	BIRC6_HUMAN	F	2766	ENSP00000393596:L2766F	ENSP00000393596:L2766F	L	+	1	0	BIRC6	32570085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.455000	0.66658	2.626000	0.88956	0.467000	0.42956	CTT	BIRC6	-	NULL		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32716581	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32716581	C	T	32716581	3	4	34	1	0	0	0	0	1	0	0	0	1439	913	32	1	8470	1	BIRC6	2	32716581	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4599102	32716581	210482792	51	4518										
EIF2AK2	5610	genome.wustl.edu	37	chr2	37365709	37365709	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acgtagtagcaaaagaaccaGaggacaggtagtcagatttc	11	7	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:37365709G>A	ENST00000233057.4	-	7	858	c.536C>T	c.(535-537)tCt>tTt	p.S179F	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S179F|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S179F	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	179					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAAAGAACCAGAGGACAGGTA	0.363																																																	0													91	94	93					2																	37365709		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.536C>T	2.37:g.37365709G>A	ENSP00000233057:p.Ser179Phe		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S179F	ENST00000233057.4	37	c.536	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	G	7.500	0.652536	0.14580	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.77229	-1.0;-1.0;-1.08	3.61	-0.481	0.12082	.	2.489710	0.01801	N	0.032872	T	0.72803	0.3506	M	0.66939	2.045	0.09310	N	1	B;B;B;B	0.24882	0.005;0.01;0.01;0.113	B;B;B;B	0.20577	0.01;0.006;0.006;0.03	T	0.52335	-0.8589	10	0.72032	D	0.01	0.2327	0.9855	0.01445	0.2149:0.1786:0.4232:0.1832	.	179;179;179;179	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	F	179	ENSP00000233057:S179F;ENSP00000378559:S179F;ENSP00000385014:S179F	ENSP00000233057:S179F	S	-	2	0	EIF2AK2	37219213	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.045000	0.12003	-0.107000	0.12088	-0.312000	0.09012	TCT	EIF2AK2	-	NULL		0.363	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	G	NM_002759		37365709	-1	no_errors	ENST00000233057	ensembl	human	known	70_37	missense	SNP	0.000	A	A	37365709	G	A	37365709	3	1	34	1	0	0	0	0	1	0	0	0	5007	942	33	1	1163	1	EIF2AK2	2	37365709	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4649128	37365709	205833664	52	4519										
C2orf86	51057	genome.wustl.edu	37	chr2	63660922	63660922	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccaggaggagtagattggctCtgtccttctcagaagaaatg	12	8	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:63660922C>G	ENST00000272321.7	-	9	1309	c.782G>C	c.(781-783)aGa>aCa	p.R261T	WDPCP_ENST00000409562.3_Missense_Mutation_p.R261T|WDPCP_ENST00000409199.1_Missense_Mutation_p.R69T|WDPCP_ENST00000409120.1_Missense_Mutation_p.R69T|WDPCP_ENST00000398544.3_Missense_Mutation_p.R102T|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	261					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TAGATTGGCTCTGTCCTTCTC	0.393																																																	0													67	65	66					2																	63660922		1881	4108	5989	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.782G>C	2.37:g.63660922C>G	ENSP00000272321:p.Arg261Thr		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.R261T	ENST00000272321.7	37	c.782	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877892	0.51801	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.43	2.67	0.31697	.	0.054415	0.64402	D	0.000001	T	0.75598	0.3871	M	0.80746	2.51	0.47476	D	0.999437	D;P;D;D	0.63046	0.981;0.9;0.992;0.976	D;P;D;P	0.65874	0.91;0.553;0.939;0.853	T	0.75241	-0.3387	10	0.87932	D	0	-2.2236	9.4484	0.38712	0.0:0.7719:0.0:0.2281	.	69;261;261;102	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	T	261;69;69;102;261	ENSP00000272321:R261T;ENSP00000386592:R69T;ENSP00000386769:R69T;ENSP00000381552:R102T;ENSP00000387222:R261T	ENSP00000272321:R261T	R	-	2	0	WDPCP	63514426	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.174000	0.58256	0.278000	0.22164	0.563000	0.77884	AGA	WDPCP	-	pfam_DUF3312		0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	C	NM_015910		63660922	-1	no_errors	ENST00000272321	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63660922	C	G	63660922	3	3	34	1	0	0	0	0	1	0	0	0	2206	913	32	1	1498	1	C2orf86	2	63660922	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	26295213	63660922	179538451	53	4520										
ZNF638	27332	genome.wustl.edu	37	chr2	71635303	71635303	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctcagtcaatgtatagctttCtgaaacaaaatccacaaaat	4	9	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:71635303C>T	ENST00000409544.1	+	20	3817	c.3187C>T	c.(3187-3189)Ctg>Ttg	p.L1063L	ZNF638_ENST00000409407.1_5'UTR|ZNF638_ENST00000355812.3_Silent_p.L1063L|ZNF638_ENST00000264447.4_Silent_p.L1063L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1063					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GTATAGCTTTCTGAAACAAAA	0.323																																																	0													106	110	109					2																	71635303		2203	4300	6503	SO:0001819	synonymous_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3187C>T	2.37:g.71635303C>T			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L1063	ENST00000409544.1	37	c.3187	CCDS1917.1	2																																																																																			ZNF638	-	NULL		0.323	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	C	NM_014497		71635303	1	no_errors	ENST00000264447	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71635303	C	T	71635303	2	4	34	1	0	0	0	0	0	0	0	1	18085	912	32	1		1	ZNF638	2	71635303	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7974381	71635303	171564070	54	4521										
TACR1	6869	genome.wustl.edu	37	chr2	75280790	75280790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggagtccccggggatctcaCtggcccatagtgtgattccc	12	13	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:75280790C>G	ENST00000305249.5	-	3	1442	c.677G>C	c.(676-678)aGt>aCt	p.S226T	TACR1_ENST00000409848.3_Missense_Mutation_p.S226T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	226					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGGGATCTCACTGGCCCATAG	0.572											OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(64;62 1268 3653 14826 43765)												0													116	95	102					2																	75280790		2203	4300	6503	SO:0001583	missense	6869			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.677G>C	2.37:g.75280790C>G	ENSP00000303522:p.Ser226Thr	1159	A8K150	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S226T	ENST00000305249.5	37	c.677	CCDS1958.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494999	0.85069	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.38240	1.15;1.15	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.71296	2.17	0.80722	D	1	P	0.46987	0.888	P	0.50617	0.646	T	0.52808	-0.8526	10	0.54805	T	0.06	.	15.7462	0.77944	0.0:1.0:0.0:0.0	.	226	P25103	NK1R_HUMAN	T	226	ENSP00000303522:S226T;ENSP00000386448:S226T	ENSP00000303522:S226T	S	-	2	0	TACR1	75134298	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.568000	0.82369	2.556000	0.86216	0.561000	0.74099	AGT	TACR1	-	pfam_GPCR_Rhodpsn,prints_Neurokn_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.572	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	C	NM_001058		75280790	-1	no_errors	ENST00000305249	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75280790	C	G	75280790	3	3	34	1	0	0	0	0	1	0	0	0	15535	565	20	4	562	4	TACR1	2	75280790	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3645487	75280790	167918583	55	4522										
REG3A	5068	genome.wustl.edu	37	chr2	79386527	79386527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgggcagggccatgggaggcAgcatagtgtctgcgacttga	17	8	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:79386527A>G	ENST00000409839.3	-	2	41	c.5T>C	c.(4-6)cTg>cCg	p.L2P	REG3A_ENST00000393878.1_Missense_Mutation_p.L2P|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.L2P	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	2					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.L2P(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATGGGAGGCAGCATAGTGTC	0.527																																																	1	Substitution - Missense(1)	lung(1)											167	122	137					2																	79386527		2203	4300	6503	SO:0001583	missense	5068			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.5T>C	2.37:g.79386527A>G	ENSP00000386630:p.Leu2Pro			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L2P	ENST00000409839.3	37	c.5	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642837	0.29246	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18338	2.22;2.22;2.22	3.87	-1.52	0.08637	.	1.019060	0.07891	N	0.971183	T	0.22589	0.0545	M	0.86573	2.825	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.42916	-0.9423	10	0.87932	D	0	.	3.9809	0.09495	0.4147:0.3714:0.2139:0.0	.	2	Q06141	REG3A_HUMAN	P	2	ENSP00000386630:L2P;ENSP00000377456:L2P;ENSP00000304311:L2P	ENSP00000304311:L2P	L	-	2	0	REG3A	79240035	0.068000	0.21057	0.001000	0.08648	0.176000	0.22953	0.857000	0.27831	-0.257000	0.09459	0.491000	0.48974	CTG	REG3A	-	NULL		0.527	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2	A	NM_002580		79386527	-1	no_errors	ENST00000305165	ensembl	human	known	70_37	missense	SNP	0.001	G	G	79386527	A	G	79386527	3	3	34	1	0	0	0	0	1	0	0	0	13242	188	7	5	542	5	REG3A	2	79386527	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	4105737	79386527	163812846	56	4523										
DNAH6	1768	genome.wustl.edu	37	chr2	84912464	84912464	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaacaggtatcctccaatgtGatccaggaacaataagagaa	8	8	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:84912464G>A	ENST00000237449.6	+	42	6939	c.6931G>A	c.(6931-6933)Gat>Aat	p.D2311N	DNAH6_ENST00000602588.1_Intron|DNAH6_ENST00000398278.2_Intron|DNAH6_ENST00000389394.3_Missense_Mutation_p.D2311N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2311					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CCTCCAATGTGATCCAGGAAC	0.318																																																	0													64	53	56					2																	84912464		692	1590	2282	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.6931G>A	2.37:g.84912464G>A	ENSP00000237449:p.Asp2311Asn		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D2311N	ENST00000237449.6	37	c.6931	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163943	0.57476	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.35048	1.33;1.33	5.61	5.61	0.85477	.	.	.	.	.	T	0.34948	0.0915	L	0.42008	1.315	0.80722	D	1	B	0.19583	0.037	B	0.24701	0.055	T	0.07693	-1.0759	9	0.22109	T	0.4	.	18.3787	0.90443	0.0:0.0:1.0:0.0	.	2311	Q9C0G6	DYH6_HUMAN	N	2311	ENSP00000374045:D2311N;ENSP00000237449:D2311N	ENSP00000237449:D2311N	D	+	1	0	DNAH6	84765975	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.568000	0.53820	2.644000	0.89710	0.650000	0.86243	GAT	DNAH6	-	NULL		0.318	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84912464	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84912464	G	A	84912464	3	1	34	1	0	0	0	0	1	0	0	0	4615	1290	45	1	7097	1	DNAH6	2	84912464	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5525937	84912464	158286909	57	4524										
MRPS5	64969	genome.wustl.edu	37	chr2	95773922	95773922	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaaccaggagtttgctacctCcacagggaccagggtcaggg	13	11	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:95773922C>G	ENST00000272418.2	-	5	843	c.635G>C	c.(634-636)gGa>gCa	p.G212A		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	212					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGCTACCTCCACAGGGACC	0.468																																																	0													103	90	94					2																	95773922		2203	4300	6503	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.635G>C	2.37:g.95773922C>G	ENSP00000272418:p.Gly212Ala		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.G212A	ENST00000272418.2	37	c.635	CCDS2010.1	2	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637949	0.67130	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.74881	2.28	0.80722	D	1	D;P	0.67145	0.996;0.952	D;P	0.64687	0.928;0.717	T	0.78309	-0.2254	9	0.49607	T	0.09	-27.0601	16.6902	0.85319	0.0:1.0:0.0:0.0	.	212;212	B4DIW8;P82675	.;RT05_HUMAN	A	212	.	ENSP00000272418:G212A	G	-	2	0	MRPS5	95137649	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	7.183000	0.77697	2.608000	0.88229	0.462000	0.41574	GGA	MRPS5	-	NULL		0.468	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	C	NM_031902		95773922	-1	no_errors	ENST00000272418	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95773922	C	G	95773922	3	3	34	1	0	0	0	0	1	0	0	0	9869	855	30	1	689	1	MRPS5	2	95773922	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10861458	95773922	147425451	58	4525										
MYO7B	4648	genome.wustl.edu	37	chr2	128350456	128350456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcaagtcgggcttccccatcCgctacacgttcgaggagttc	11	14	0	0	rs559819413		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:128350456C>T	ENST00000409816.2	+	16	2112	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	MYO7B_ENST00000428314.1_Missense_Mutation_p.R694C|MYO7B_ENST00000389524.4_Missense_Mutation_p.R694C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	694	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTTCCCCATCCGCTACACGTT	0.652																																																	0													34	44	41					2																	128350456		2095	4208	6303	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2080C>T	2.37:g.128350456C>T	ENSP00000386461:p.Arg694Cys		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R694C	ENST00000409816.2	37	c.2080	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312569	0.81358	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.92699	-3.09;-3.09;-3.09	4.73	3.83	0.44106	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98121	1.0425	10	0.87932	D	0	.	12.9835	0.58577	0.2936:0.7064:0.0:0.0	.	694	Q6PIF6	MYO7B_HUMAN	C	694	ENSP00000374175:R694C;ENSP00000415090:R694C;ENSP00000386461:R694C	ENSP00000374175:R694C	R	+	1	0	MYO7B	128066926	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	3.833000	0.55790	1.090000	0.41315	0.655000	0.94253	CGC	MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128350456	1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128350456	C	T	128350456	3	4	34	1	0	0	0	0	1	0	0	0	10106	652	23	2	2142	2	MYO7B	2	128350456	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	32576534	128350456	114848917	59	4526										
PLEKHB2	55041	genome.wustl.edu	37	chr2	131890507	131890507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tctgcagtcatgaccgatgaGacatccgtggtttcctcacc	9	13	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:131890507G>A	ENST00000403716.1	+	6	926	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PLEKHB2_ENST00000234115.6_Silent_p.E122E|PLEKHB2_ENST00000409158.1_Silent_p.E122E|PLEKHB2_ENST00000303908.3_Silent_p.E122E|PLEKHB2_ENST00000538982.1_Silent_p.E74E|PLEKHB2_ENST00000409612.1_Silent_p.E122E|PLEKHB2_ENST00000438882.2_Silent_p.E122E|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000409279.1_Silent_p.E122E|PLEKHB2_ENST00000404460.1_Silent_p.E122E	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	122						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TGACCGATGAGACATCCGTGG	0.602																																																	0													141	121	128					2																	131890507		2203	4300	6503	SO:0001819	synonymous_variant	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.366G>A	2.37:g.131890507G>A			B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E122	ENST00000403716.1	37	c.366	CCDS46413.1	2																																																																																			PLEKHB2	-	NULL		0.602	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	HGNC	protein_coding	OTTHUMT00000331304.2	G	NM_017958		131890507	1	no_errors	ENST00000303908	ensembl	human	known	70_37	silent	SNP	0.944	A	A	131890507	G	A	131890507	2	1	34	1	0	0	0	0	0	0	0	1	12089	933	33	1		1	PLEKHB2	2	131890507	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3540051	131890507	111308866	60	4527										
NEB	4703	genome.wustl.edu	37	chr2	152447960	152447960	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gacatcttcccaagcttgctGatagcgtttctgcaaacaga	8	11	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152447960G>C	ENST00000172853.10	-	78	11749				NEB_ENST00000604864.1_Missense_Mutation_p.Q4946E|NEB_ENST00000427231.2_Missense_Mutation_p.Q4946E|NEB_ENST00000603639.1_Missense_Mutation_p.Q4946E|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.Q4946E			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAAGCTTGCTGATAGCGTTTC	0.453																																																	0													3	3	3					2																	152447960		206	958	1164	SO:0001627	intron_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-15092C>G	2.37:g.152447960G>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q4946E	ENST00000172853.10	37	c.14836		2	.	.	.	.	.	.	.	.	.	.	g	6.624	0.483633	0.12581	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.06068	3.35;3.49	3.18	-0.236	0.13067	.	.	.	.	.	T	0.09730	0.0239	L	0.52364	1.645	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26052	-1.0114	7	0.66056	D	0.02	.	8.2274	0.31577	0.0:0.1374:0.3104:0.5522	.	.	.	.	E	4946	ENSP00000380505:Q4946E;ENSP00000416578:Q4946E	ENSP00000380505:Q4946E	Q	-	1	0	NEB	152156206	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.732000	0.04904	-0.402000	0.07633	0.454000	0.30748	CAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.453	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152447960	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.001	C	C	152447960	G	C	152447960	1	2	34	0	1	0	0	0	0	0	0	0	10326	1299	45	1		1	NEB	2	152447960	Intron	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	20557453	152447960	90751413	61	4528										
ARL5A	26225	genome.wustl.edu	37	chr2	152684679	152684679	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agtctccatattctagtgaaGagaattcccattctcgggca	8	10	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152684679G>C	ENST00000295087.8	-	1	323	c.12C>G	c.(10-12)ctC>ctG	p.L4L	ARL5A_ENST00000487723.1_5'UTR|ARL5A_ENST00000428992.2_Intron	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	4					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TTCTAGTGAAGAGAATTCCCA	0.672																																																	0													31	35	34					2																	152684679		2203	4300	6503	SO:0001819	synonymous_variant	26225			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	696	protein-coding gene	gene with protein product		608960	"ADP-ribosylation factor-like 5"	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.12C>G	2.37:g.152684679G>C			Q580I5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L4	ENST00000295087.8	37	c.12	CCDS2195.1	2																																																																																			ARL5A	-	smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF		0.672	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1	G			152684679	-1	no_errors	ENST00000295087	ensembl	human	known	70_37	silent	SNP	1.000	C	C	152684679	G	C	152684679	2	2	34	1	0	0	0	0	0	0	0	1	940	929	33	1		1	ARL5A	2	152684679	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	236719	152684679	90514694	62	4529										
CACNB4	785	genome.wustl.edu	37	chr2	152711885	152711885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctttcaatttcactttgtacTtccgcttaaaggaaaaataa	4	8	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152711885T>G	ENST00000539935.1	-	11	940	c.873A>C	c.(871-873)gaA>gaC	p.E291D	CACNB4_ENST00000427385.1_Missense_Mutation_p.E273D|CACNB4_ENST00000397327.2_Missense_Mutation_p.E244D|CACNB4_ENST00000360283.6_Missense_Mutation_p.E258D|CACNB4_ENST00000201943.5_Missense_Mutation_p.E291D|CACNB4_ENST00000534999.1_Missense_Mutation_p.E257D	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	291					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACTTTGTACTTCCGCTTAAA	0.323																																																	0													65	61	62					2																	152711885		1819	4084	5903	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.873A>C	2.37:g.152711885T>G	ENSP00000438949:p.Glu291Asp		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.E292D	ENST00000539935.1	37	c.876	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554829	0.86231	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.89	5.89	0.94794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.90595	3.13	0.80722	D	1	P;P;D;P	0.53619	0.874;0.898;0.961;0.876	P;D;D;P	0.66351	0.88;0.911;0.943;0.855	T	0.77728	-0.2479	10	0.48119	T	0.1	-22.5652	16.3127	0.82898	0.0:0.0:0.0:1.0	.	291;291;273;257	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	D	291;258;248;286;257;244;273;291;292	ENSP00000438949:E291D;ENSP00000353425:E258D;ENSP00000390161:E286D;ENSP00000443893:E257D;ENSP00000380490:E244D;ENSP00000410978:E273D;ENSP00000201943:E291D	ENSP00000201943:E291D	E	-	3	2	CACNB4	152420131	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.607000	0.54102	2.246000	0.74042	0.533000	0.62120	GAA	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu		0.323	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	T	NM_000726.3		152711885	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152711885	T	G	152711885	3	3	34	1	0	0	0	0	1	0	0	0	2560	1606	56	5	705	5	CACNB4	2	152711885	Missense_Mutation	SNP	T	TCGA-C5-A2LZ-01A-11D-A20U-09	27206	152711885	90487488	63	4530										
TANK	10010	genome.wustl.edu	37	chr2	162080448	162080448	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aagaagacaagaggtttcttCtcctagaaaagaaacttcag	8	7	3	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:162080448C>G	ENST00000392749.2	+	5	589	c.350C>G	c.(349-351)tCt>tGt	p.S117C	TANK_ENST00000402568.1_Missense_Mutation_p.S176C|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.S117C|TANK_ENST00000406287.1_Missense_Mutation_p.S175C|TANK_ENST00000405852.1_Missense_Mutation_p.S117C	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	117					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GAGGTTTCTTCTCCTAGAAAA	0.338																																																	0													59	63	62					2																	162080448		2203	4296	6499	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.350C>G	2.37:g.162080448C>G	ENSP00000376505:p.Ser117Cys		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.S117C	ENST00000392749.2	37	c.350	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634871	0.67130	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000392749;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000437623	T;T;T;T	0.44482	1.78;1.78;1.35;0.92	4.89	4.89	0.63831	.	0.237754	0.36234	N	0.002716	T	0.46580	0.1400	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.48490	-0.9031	10	0.59425	D	0.04	-0.6581	15.8235	0.78678	0.0:1.0:0.0:0.0	.	117	Q92844	TANK_HUMAN	C	117;118;117;118;175;176;117;143;8	ENSP00000259075:S117C;ENSP00000376505:S117C;ENSP00000385487:S117C;ENSP00000412556:S8C	ENSP00000259075:S117C	S	+	2	0	TANK	161788694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.712000	0.54875	2.283000	0.76528	0.655000	0.94253	TCT	TANK	-	NULL		0.338	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	C	NM_133484		162080448	1	no_errors	ENST00000259075	ensembl	human	known	70_37	missense	SNP	1.000	G	G	162080448	C	G	162080448	3	3	34	1	0	0	0	0	1	0	0	0	15576	913	32	1	397	1	TANK	2	162080448	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	9368563	162080448	81118925	64	4531										
XIRP2	129446	genome.wustl.edu	37	chr2	168106692	168106692	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaatctttcttttcctctgtGaaagaatcccagcgggatga	8	9	3	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:168106692G>A	ENST00000409195.1	+	9	8879	c.8790G>A	c.(8788-8790)gtG>gtA	p.V2930V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2930V|XIRP2_ENST00000409273.1_Silent_p.V2708V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2755					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCTCTGTGAAAGAATCCC	0.378																																																	0													83	80	81					2																	168106692		1828	4077	5905	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8790G>A	2.37:g.168106692G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.V2930	ENST00000409195.1	37	c.8790	CCDS42769.1	2																																																																																			XIRP2	-	NULL		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168106692	1	no_errors	ENST00000295237	ensembl	human	known	70_37	silent	SNP	0.454	A	A	168106692	G	A	168106692	2	1	34	1	0	0	0	0	0	0	0	1	17461	1277	45	1		1	XIRP2	2	168106692	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6026244	168106692	75092681	65	4532										
DYNC1I2	1781	genome.wustl.edu	37	chr2	172586253	172586253	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgagatgtttgaggggcatCaaggaccaatcactggcatc	13	8	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:172586253C>G	ENST00000397119.3	+	15	1593	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E	DYNC1I2_ENST00000409197.1_Missense_Mutation_p.Q450E|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.Q468E|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.Q450E|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.Q476E|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.Q450E|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.Q470E|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.Q476E|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.Q470E|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.Q476E|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.Q468E	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	476					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGAGGGGCATCAAGGACCAAT	0.393																																																	0													106	102	103					2																	172586253		1906	4121	6027	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1426C>G	2.37:g.172586253C>G	ENSP00000380308:p.Gln476Glu		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.Q476E	ENST00000397119.3	37	c.1426	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666010	0.47677	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.093452	0.85682	D	0.000000	T	0.48370	0.1496	N	0.25647	0.755	0.80722	D	1	B;P;B;B;P	0.40681	0.001;0.727;0.125;0.125;0.589	B;B;B;B;B	0.43194	0.002;0.411;0.098;0.098;0.411	T	0.31833	-0.9929	10	0.30854	T	0.27	-14.2869	20.3334	0.98727	0.0:1.0:0.0:0.0	.	199;468;450;450;476	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	E	450;476;470;476;468;450;450;470;476;476;468	ENSP00000339430:Q450E;ENSP00000433791:Q476E;ENSP00000263811:Q470E;ENSP00000380308:Q476E;ENSP00000386522:Q468E;ENSP00000423339:Q450E;ENSP00000386397:Q450E;ENSP00000386591:Q470E;ENSP00000386415:Q476E;ENSP00000386886:Q476E;ENSP00000350692:Q468E	ENSP00000263811:Q470E	Q	+	1	0	DYNC1I2	172294499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.792000	0.85828	2.818000	0.97014	0.591000	0.81541	CAA	DYNC1I2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.393	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	C	NM_001378		172586253	1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172586253	C	G	172586253	3	3	34	1	0	0	0	0	1	0	0	0	4853	827	29	1	1480	1	DYNC1I2	2	172586253	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4479561	172586253	70613120	66	4533										
TTN	7273	genome.wustl.edu	37	chr2	179485706	179485706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggtgtccttaagaggaactaCgatcctgagtttttctgaaa	10	7	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:179485706C>T	ENST00000591111.1	-	197	40932	c.40708G>A	c.(40708-40710)Gta>Ata	p.V13570I	TTN_ENST00000359218.5_Missense_Mutation_p.V6271I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6338I|TTN_ENST00000460472.2_Missense_Mutation_p.V6146I|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12643I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V15211I|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13570	Ig-like 92.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V6271I(1)|p.V12643I(1)|p.V6338I(1)|p.V6146I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGGAACTACGATCCTGAGT	0.373																																																	4	Substitution - Missense(4)	NS(4)											67	62	63					2																	179485706		1847	4084	5931	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40708G>A	2.37:g.179485706C>T	ENSP00000465570:p.Val13570Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V12643I	ENST00000591111.1	37	c.37927		2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725433	0.30593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.83	0.928	0.19443	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19087	0.0458	N	0.02275	-0.615	0.24786	N	0.992785	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.23226	-1.0194	9	0.87932	D	0	.	9.4996	0.39008	0.0:0.3984:0.0:0.6016	.	6146;6271;6338;13570	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	12643;6146;6338;6271;6146	ENSP00000343764:V12643I;ENSP00000434586:V6146I;ENSP00000340554:V6338I;ENSP00000352154:V6271I	ENSP00000340554:V6338I	V	-	1	0	TTN	179193951	0.993000	0.37304	0.994000	0.49952	0.982000	0.71751	0.546000	0.23284	0.136000	0.18733	0.655000	0.94253	GTA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179485706	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T	T	179485706	C	T	179485706	3	4	34	1	0	0	0	0	1	0	0	0	16766	536	19	2	62526	2	TTN	2	179485706	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6899453	179485706	63713667	67	4534										
DNAJC10	54431	genome.wustl.edu	37	chr2	183619808	183619808	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgaaggacatcactctgctGaacaaatcttggagttcata	8	8	4	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:183619808G>A	ENST00000264065.7	+	17	2045	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	544	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCACTCTGCTGAACAAATCTT	0.348																																					Pancreas(56;860 1183 25669 35822 48585)												0													102	95	98					2																	183619808		2203	4298	6501	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1630G>A	2.37:g.183619808G>A	ENSP00000264065:p.Glu544Lys		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin	p.E544K	ENST00000264065.7	37	c.1630	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678881	0.88542	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.44881	0.91	6.17	6.17	0.99709	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.050677	0.85682	D	0.000000	T	0.33265	0.0857	N	0.26042	0.785	0.80722	D	1	B;B	0.33448	0.2;0.412	B;B	0.30316	0.077;0.114	T	0.05209	-1.0899	10	0.19590	T	0.45	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	498;544	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	544;498	ENSP00000264065:E544K	ENSP00000264065:E544K	E	+	1	0	DNAJC10	183328053	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.646000	0.74348	2.941000	0.99782	0.655000	0.94253	GAA	DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C		0.348	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	G	NM_018981		183619808	1	no_errors	ENST00000264065	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183619808	G	A	183619808	3	1	34	1	0	0	0	0	1	0	0	0	4639	1291	45	1	1688	1	DNAJC10	2	183619808	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4134102	183619808	59579565	68	4535										
BZW1	9689	genome.wustl.edu	37	chr2	201686900	201686900	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgaagctgaagaaggtgactGaattttgaaactacaccctc	9	8	0	6			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:201686900G>C	ENST00000409600.1	+	12	1714	c.1259G>C	c.(1258-1260)tGa>tCa	p.*420S	BZW1_ENST00000452790.2_Nonstop_Mutation_p.*452S|RP11-469M7.1_ENST00000568571.1_lincRNA|BZW1_ENST00000409226.1_Nonstop_Mutation_p.*424S	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GAAGGTGACTGAATTTTGAAA	0.368																																																	0													75	66	69					2																	201686900		1822	4077	5899	SO:0001578	stop_lost	9689			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1259G>C	2.37:g.201686900G>C	ENSP00000386474:p.*420Serext*8		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Nonstop_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.*420S	ENST00000409600.1	37	c.1259	CCDS56156.1	2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873669	0.51695	.	.	ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7679	0.57403	0.0793:0.0:0.9207:0.0	.	.	.	.	S	420;424;452	.	.	X	+	2	2	BZW1	201395145	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.132000	0.71676	2.639000	0.89480	0.460000	0.39030	TGA	BZW1	-	NULL		0.368	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	G	NM_014670		201686900	1	no_errors	ENST00000409600	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	201686900	G	C	201686900	4	2	34	1	0	0	0	0	0	0	0	0	1581	1285	45	1	1103	1	BZW1	2	201686900	Nonstop_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	18067092	201686900	41512473	69	4536										
ABCA12	26154	genome.wustl.edu	37	chr2	215843622	215843622	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggagtgacaggtaggcccctGagactttggtgctgaatgga	16	7	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:215843622G>A	ENST00000272895.7	-	32	5102	c.4883C>T	c.(4882-4884)tCa>tTa	p.S1628L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1310L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1628					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTAGGCCCCTGAGACTTTGGT	0.527																																					Ovarian(66;664 1488 5121 34295)												0													164	143	150					2																	215843622		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4883C>T	2.37:g.215843622G>A	ENSP00000272895:p.Ser1628Leu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1628L	ENST00000272895.7	37	c.4883	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278420	0.80692	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82893	-1.66;-1.66	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000025	D	0.90232	0.6946	M	0.69523	2.12	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.63877	0.919;0.883	D	0.90809	0.4700	10	0.72032	D	0.01	.	19.4492	0.94860	0.0:0.0:1.0:0.0	.	1628;1310	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	1628;1310	ENSP00000272895:S1628L;ENSP00000374312:S1310L	ENSP00000272895:S1628L	S	-	2	0	ABCA12	215551867	1.000000	0.71417	0.995000	0.50966	0.755000	0.42902	6.212000	0.72188	2.669000	0.90835	0.655000	0.94253	TCA	ABCA12	-	NULL		0.527	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215843622	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.998	A	A	215843622	G	A	215843622	3	1	34	1	0	0	0	0	1	0	0	0	30	1294	45	1	2992	1	ABCA12	2	215843622	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	14156722	215843622	27355751	70	4537										
ABCA12	26154	genome.wustl.edu	37	chr2	215884458	215884458	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcagagagctggcatgacttCtctatcaaactgaaagtttc	8	9	3	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:215884458C>T	ENST00000272895.7	-	12	1569	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000595058.1_RNA|ABCA12_ENST00000389661.4_Silent_p.E132E|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	450					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCATGACTTCTCTATCAAAC	0.438																																					Ovarian(66;664 1488 5121 34295)												0													51	52	51					2																	215884458		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1350G>A	2.37:g.215884458C>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E450	ENST00000272895.7	37	c.1350	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215884458	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	0.003	T	T	215884458	C	T	215884458	2	4	34	1	0	0	0	0	0	0	0	1	30	912	32	1		1	ABCA12	2	215884458	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	40836	215884458	27314915	71	4538										
STK11IP	114790	genome.wustl.edu	37	chr2	220473457	220473457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gactggagctccagagtctgGaggcagctgagatagagccg	16	9	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:220473457G>A	ENST00000456909.1	+	15	1846	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E597K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	597	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGAGTCTGGAGGCAGCTGA	0.632																																																	0													24	28	27					2																	220473457		1986	4160	6146	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1756G>A	2.37:g.220473457G>A	ENSP00000389383:p.Glu586Lys		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E586K	ENST00000456909.1	37	c.1756		2	.	.	.	.	.	.	.	.	.	.	G	5.554	0.287170	0.10513	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.04809	3.56;3.55	4.39	2.49	0.30216	.	0.780931	0.12016	N	0.507448	T	0.05181	0.0138	L	0.54323	1.7	0.20074	N	0.999936	B;P;B	0.36249	0.386;0.545;0.218	B;B;B	0.32677	0.087;0.15;0.085	T	0.29458	-1.0011	10	0.21014	T	0.42	-4.8371	8.7054	0.34351	0.0:0.1618:0.6725:0.1656	.	565;597;597	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	K	586;565;597	ENSP00000389383:E586K;ENSP00000295641:E597K	ENSP00000295641:E597K	E	+	1	0	STK11IP	220181701	1.000000	0.71417	0.961000	0.40146	0.515000	0.34225	0.986000	0.29590	2.282000	0.76494	0.561000	0.74099	GAG	STK11IP	-	NULL		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220473457	1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.648	A	A	220473457	G	A	220473457	3	1	34	1	0	0	0	0	1	0	0	0	15318	1175	41	1	1847	1	STK11IP	2	220473457	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4588999	220473457	22725916	72	4539										
IQCA1	79781	genome.wustl.edu	37	chr2	237349739	237349739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccctccttcttcaacgtcagGgtagtcaggaaatgtcccgg	10	13	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:237349739G>A	ENST00000409907.3	-	7	1229	c.955C>T	c.(955-957)Cct>Tct	p.P319S	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.P315S|IQCA1_ENST00000431676.2_Missense_Mutation_p.P319S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	319							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCAACGTCAGGGTAGTCAGGA	0.333																																																	0													31	30	30					2																	237349739		1796	4055	5851	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.955C>T	2.37:g.237349739G>A	ENSP00000387347:p.Pro319Ser		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.P319S	ENST00000409907.3	37	c.955	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.73|14.73	2.622039|2.622039	0.46840|0.46840	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.97941	.|-4.37;-4.42;-4.62	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000026|0.000026	D|D	0.98826|0.98826	0.9604|0.9604	M|M	0.89715|0.89715	3.055|3.055	0.45150|0.45150	D|D	0.998162|0.998162	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.984;1.0;0.993	D|D	0.99486|0.99486	1.0949|1.0949	6|10	.|0.66056	.|D	.|0.02	.|.	14.2016|14.2016	0.65707|0.65707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319;326;319	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	L|S	337|319;326;315;319;315	.|ENSP00000387347:P319S;ENSP00000311951:P315S;ENSP00000407213:P319S	.|ENSP00000254653:P319S	P|P	-|-	2|1	0|0	IQCA1|IQCA1	237014478|237014478	1.000000|1.000000	0.71417|0.71417	0.597000|0.597000	0.28824|0.28824	0.162000|0.162000	0.22319|0.22319	5.347000|5.347000	0.65998|0.65998	2.410000|2.410000	0.81850|0.81850	0.557000|0.557000	0.71058|0.71058	CCC|CCT	IQCA1	-	NULL		0.333	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	G	NM_024726		237349739	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	0.990	A	A	237349739	G	A	237349739	3	1	34	1	0	0	0	0	1	0	0	0	7822	1232	43	4	1565	4	IQCA1	2	237349739	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	16876282	237349739	5849634	73	4540										
OXTR	5021	genome.wustl.edu	37	chr3	8809218	8809218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgaagctgataaggccgtagCaggcagcgagcacgatgacc	14	10	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:8809218C>T	ENST00000316793.3	-	3	1280	c.656G>A	c.(655-657)tGc>tAc	p.C219Y	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	219					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	AAGGCCGTAGCAGGCAGCGAG	0.652																																																	0													35	34	34					3																	8809218		2203	4299	6502	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.656G>A	3.37:g.8809218C>T	ENSP00000324270:p.Cys219Tyr		Q15071	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.C219Y	ENST00000316793.3	37	c.656	CCDS2570.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782392	0.90282	.	.	ENSG00000180914	ENST00000316793	T	0.42131	0.98	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84540	0.0638	10	0.87932	D	0	-47.6959	17.4792	0.87668	0.0:1.0:0.0:0.0	.	219	P30559	OXYR_HUMAN	Y	219	ENSP00000324270:C219Y	ENSP00000324270:C219Y	C	-	2	0	OXTR	8784218	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.749000	0.85096	2.466000	0.83321	0.561000	0.74099	TGC	OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn		0.652	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	C			8809218	-1	no_errors	ENST00000316793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8809218	C	T	8809218	3	4	34	1	0	0	0	0	1	0	0	0	11362	710	25	4	521	4	OXTR	3	8809218	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		8809218	189213212	74	4541										
TMEM111	55831	genome.wustl.edu	37	chr3	10012302	10012302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatcagagagtaaatgctccGaagcccaaatacattgagga	9	8	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:10012302G>A	ENST00000245046.2	-	6	996	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	180						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TAAATGCTCCGAAGCCCAAAT	0.398																																																	0													126	124	125					3																	10012302		2203	4300	6503	SO:0001583	missense	55831			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.538C>T	3.37:g.10012302G>A	ENSP00000245046:p.Arg180Trp		B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.R180W	ENST00000245046.2	37	c.538	CCDS2594.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254564	0.80135	.	.	ENSG00000125037	ENST00000245046	.	.	.	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83710	0.0187	9	0.87932	D	0	.	7.8515	0.29457	0.0808:0.0:0.7594:0.1598	.	180;180	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	W	180	.	ENSP00000245046:R180W	R	-	1	2	TMEM111	9987302	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.460000	0.45031	1.515000	0.48885	0.655000	0.94253	CGG	EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk		0.398	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	G	NM_018447		10012302	-1	no_errors	ENST00000245046	ensembl	human	known	70_37	missense	SNP	0.998	A	A	10012302	G	A	10012302	3	1	34	1	0	0	0	0	1	0	0	0	16058	1057	37	1	259	1	TMEM111	3	10012302	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1203084	10012302	188010128	75	4542										
ATP2B2	491	genome.wustl.edu	37	chr3	10387122	10387122	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acggccaccacgttgacggtGagctggaactgcaagaattt	12	10	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:10387122G>A	ENST00000352432.4	-	17	2718	c.2649C>T	c.(2647-2649)ctC>ctT	p.L883L	ATP2B2_ENST00000397077.1_Silent_p.L838L|ATP2B2_ENST00000383800.4_Silent_p.L838L|ATP2B2_ENST00000343816.4_Silent_p.L869L|ATP2B2_ENST00000360273.2_Silent_p.L883L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	883					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTTGACGGTGAGCTGGAACT	0.582																																					Ovarian(125;1619 1709 15675 19819 38835)												0													202	143	163					3																	10387122		2203	4300	6503	SO:0001819	synonymous_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2649C>T	3.37:g.10387122G>A			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L883	ENST00000352432.4	37	c.2649	CCDS33701.1	3																																																																																			ATP2B2	-	tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10387122	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	silent	SNP	0.843	A	A	10387122	G	A	10387122	2	1	34	1	0	0	0	0	0	0	0	1	1141	1277	45	1		1	ATP2B2	3	10387122	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	374820	10387122	187635308	76	4543										
GRIP2	80852	genome.wustl.edu	37	chr3	14548435	14548435	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagggcatctgctgggtcctCatcagcatcactggtctcac	10	14	5	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:14548435C>A	ENST00000273083.3	-	0	2336							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCTGGGTCCTCATCAGCATCA	0.622																																																	0													25	29	28					3																	14548435		2028	4177	6205			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548435C>A			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.622	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14548435	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	1.000	A	A	14548435	C	A	14548435	1	1	34	0	1	0	0	0	0	0	0	0	6808	835	29	3		3	GRIP2	3	14548435	RNA	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4161313	14548435	183473995	77	4544										
KCNH8	131096	genome.wustl.edu	37	chr3	19479678	19479678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggcttcatgagttgggaaaGagactggaatctccatacta	11	7	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:19479678G>C	ENST00000328405.2	+	8	1466	c.1200G>C	c.(1198-1200)aaG>aaC	p.K400N	KCNH8_ENST00000537696.1_Missense_Mutation_p.K41N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	400					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTTGGGAAAGAGACTGGAAT	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)												0													183	192	189					3																	19479678		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1200G>C	3.37:g.19479678G>C	ENSP00000328813:p.Lys400Asn		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.K400N	ENST00000328405.2	37	c.1200	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986872	0.74589	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;D	0.99836	-5.04;-7.05	5.78	4.8	0.61643	Ion transport (1);	0.000000	0.32563	U	0.005936	D	0.99158	0.9709	L	0.31476	0.935	0.48901	D	0.999726	D;B;B	0.63046	0.992;0.425;0.425	P;B;P	0.57009	0.811;0.3;0.529	D	0.96498	0.9369	9	.	.	.	.	3.8125	0.08802	0.3291:0.0:0.6709:0.0	.	41;400;400	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	N	400;41	ENSP00000328813:K400N;ENSP00000446294:K41N	.	K	+	3	2	KCNH8	19454682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.340000	0.65958	2.732000	0.93576	0.555000	0.69702	AAG	KCNH8	-	pfam_Ion_trans_dom		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	G	NM_144633		19479678	1	no_errors	ENST00000328405	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19479678	G	C	19479678	3	2	34	1	0	0	0	0	1	0	0	0	8058	933	33	1	1230	1	KCNH8	3	19479678	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4931243	19479678	178542752	78	4545										
NR1D2	9975	genome.wustl.edu	37	chr3	24001301	24001301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tctgtctgttggaatgtcaaGagatggtatgttcccagttt	11	6	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:24001301G>C	ENST00000312521.4	+	4	831	c.512G>C	c.(511-513)aGa>aCa	p.R171T	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	171	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R171I(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGAATGTCAAGAGATGGTATG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											158	144	149					3																	24001301		2203	4300	6503	SO:0001583	missense	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.512G>C	3.37:g.24001301G>C	ENSP00000310006:p.Arg171Thr		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R171T	ENST00000312521.4	37	c.512	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209481	0.58343	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97378	-4.36	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.99289	1.0898	10	0.87932	D	0	.	20.1589	0.98128	0.0:0.0:1.0:0.0	.	171	Q14995	NR1D2_HUMAN	T	171	ENSP00000310006:R171T	ENSP00000310006:R171T	R	+	2	0	NR1D2	23976305	1.000000	0.71417	0.977000	0.42913	0.083000	0.17756	8.042000	0.89430	2.769000	0.95229	0.650000	0.86243	AGA	NR1D2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt		0.398	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	G			24001301	1	no_errors	ENST00000312521	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24001301	G	C	24001301	3	2	34	1	0	0	0	0	1	0	0	0	10640	942	33	1	526	1	NR1D2	3	24001301	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4521623	24001301	174021129	79	4546										
CCR8	1237	genome.wustl.edu	37	chr3	39374093	39374093	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgtcttctccttcccctttCagacctactatctgctggac	5	15	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:39374093C>A	ENST00000326306.4	+	2	409	c.271C>A	c.(271-273)Cag>Aag	p.Q91K	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	91					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTCCCCTTTCAGACCTACTA	0.478																																																	0													245	220	229					3																	39374093		2203	4300	6503	SO:0001583	missense	1237			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.271C>A	3.37:g.39374093C>A	ENSP00000326432:p.Gln91Lys		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt	p.Q91K	ENST00000326306.4	37	c.271	CCDS2684.1	3	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479929	0.44044	.	.	ENSG00000179934	ENST00000326306	T	0.71461	-0.57	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.363429	0.25478	N	0.030393	T	0.62011	0.2393	L	0.42529	1.33	0.80722	D	1	P	0.38300	0.626	B	0.40602	0.334	T	0.65894	-0.6057	10	0.87932	D	0	.	6.1213	0.20154	0.1877:0.7192:0.0:0.0931	.	91	P51685	CCR8_HUMAN	K	91	ENSP00000326432:Q91K	ENSP00000326432:Q91K	Q	+	1	0	CCR8	39349097	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.143000	0.16115	2.506000	0.84524	0.563000	0.77884	CAG	CCR8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.478	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR8	HGNC	protein_coding	OTTHUMT00000254058.2	C	NM_005201		39374093	1	no_errors	ENST00000326306	ensembl	human	known	70_37	missense	SNP	0.958	A	A	39374093	C	A	39374093	3	1	34	1	0	0	0	0	1	0	0	0	2952	827	29	3	273	3	CCR8	3	39374093	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	15372792	39374093	158648337	80	4547										
FYCO1	79443	genome.wustl.edu	37	chr3	46003742	46003742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagctctatcagccgctcctCgagatacttcttggttctgt	8	13	4	1	rs138239824		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:46003742C>T	ENST00000296137.2	-	11	3617	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E1138K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1138					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.E1138*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCCGCTCCTCGAGATACTTC	0.493																																																	1	Substitution - Nonsense(1)	breast(1)						C	LYS/GLU	0,4406		0,0,2203	217	210	212		3412	5.9	1	3	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1138/1479	46003742	1,13005	2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3412G>A	3.37:g.46003742C>T	ENSP00000296137:p.Glu1138Lys		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E1138K	ENST00000296137.2	37	c.3412	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.218014	0.95104	0.0	1.16E-4	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23950	1.89;1.88	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.68952	2.095	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.35276	-0.9795	10	0.41790	T	0.15	-33.7838	18.479	0.90804	0.0:1.0:0.0:0.0	.	1138;1138	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	1138	ENSP00000296137:E1138K;ENSP00000441178:E1138K	ENSP00000296137:E1138K	E	-	1	0	FYCO1	45978746	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	5.628000	0.67791	2.793000	0.96121	0.655000	0.94253	GAG	FYCO1	-	NULL		0.493	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46003742	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.999	T	T	46003742	C	T	46003742	3	4	34	1	0	0	0	0	1	0	0	0	6143	893	31	1	1056	1	FYCO1	3	46003742	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6629649	46003742	152018688	81	4548										
NBEAL2	23218	genome.wustl.edu	37	chr3	47043554	47043554	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cttccttggagtcagccactGatgaggcagggtccccactt	11	13	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:47043554G>A	ENST00000450053.3	+	31	5106	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	NBEAL2_ENST00000292309.5_Missense_Mutation_p.D1459N|NBEAL2_ENST00000383740.2_De_novo_Start_OutOfFrame	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1643					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTCAGCCACTGATGAGGCAGG	0.657																																																	0													5	6	6					3																	47043554		2035	4082	6117	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4927G>A	3.37:g.47043554G>A	ENSP00000415034:p.Asp1643Asn		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1643N	ENST00000450053.3	37	c.4927	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	G	5.242	0.230107	0.09969	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.57595	0.4;0.39	3.76	1.92	0.25849	.	2.570310	0.01103	N	0.005438	T	0.34571	0.0902	N	0.08118	0	0.19300	N	0.999979	B;B	0.16166	0.007;0.016	B;B	0.11329	0.006;0.003	T	0.27088	-1.0084	10	0.49607	T	0.09	.	5.6406	0.17562	0.1104:0.1983:0.6913:0.0	.	1459;1643	Q6ZNJ1-2;Q6ZNJ1	.;NBEL2_HUMAN	N	1459;1643	ENSP00000292309:D1459N;ENSP00000415034:D1643N	ENSP00000292309:D1459N	D	+	1	0	NBEAL2	47018558	0.010000	0.17322	0.002000	0.10522	0.021000	0.10359	1.722000	0.38042	0.550000	0.28991	0.650000	0.86243	GAT	NBEAL2	-	NULL		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47043554	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.010	A	A	47043554	G	A	47043554	3	1	34	1	0	0	0	0	1	0	0	0	10212	1290	45	1	5049	1	NBEAL2	3	47043554	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1039812	47043554	150978876	82	4549										
NBEAL2	23218	genome.wustl.edu	37	chr3	47049617	47049617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggtcctgtatgggcatgggGctgcagtgagctgtgtggcc	18	8	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:47049617G>A	ENST00000450053.3	+	50	7839	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2370T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A803T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2554					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGGCATGGGGCTGCAGTGAG	0.592																																																	0													90	89	90					3																	47049617		2169	4273	6442	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7660G>A	3.37:g.47049617G>A	ENSP00000415034:p.Ala2554Thr		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2554T	ENST00000450053.3	37	c.7660	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.860214|4.860214	0.91433|0.91433	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829	T;T;T|T	0.61040|0.59502	0.14;0.14;0.14|0.26	5.16|5.16	5.16|5.16	0.70880|0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.245573|.	0.43110|.	D|.	0.000602|.	T|T	0.46698|0.46698	0.1406|0.1406	N|N	0.20986|0.20986	0.625|0.625	0.39497|0.39497	D|D	0.968144|0.968144	D;B|.	0.56521|.	0.976;0.266|.	P;B|.	0.49085|.	0.6;0.347|.	T|T	0.36601|0.36601	-0.9741|-0.9741	10|7	0.18276|0.02654	T|T	0.48|1	.|.	17.3991|17.3991	0.87454|0.87454	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2370;2554|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	T|D	2370;803;2554;497|892	ENSP00000292309:A2370T;ENSP00000373246:A803T;ENSP00000415034:A2554T|ENSP00000414560:G892D	ENSP00000292309:A2370T|ENSP00000414560:G892D	A|G	+|+	1|2	0|0	NBEAL2|NBEAL2	47024621|47024621	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.109000|2.109000	0.41863|0.41863	2.676000|2.676000	0.91093|0.91093	0.561000|0.561000	0.74099|0.74099	GCT|GGC	NBEAL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47049617	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47049617	G	A	47049617	3	1	34	1	0	0	0	0	1	0	0	0	10212	1203	42	4	7858	4	NBEAL2	3	47049617	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6063	47049617	150972813	83	4550										
COL7A1	1294	genome.wustl.edu	37	chr3	48623864	48623864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tacgtgctggcggcgcccagGagcatctggtgccaacatgt	14	12	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:48623864G>T	ENST00000328333.8	-	26	3558	c.3451C>A	c.(3451-3453)Cct>Act	p.P1151T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1151T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1151	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCGCCCAGGAGCATCTGGT	0.592																																																	0													144	148	146					3																	48623864		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3451C>A	3.37:g.48623864G>T	ENSP00000332371:p.Pro1151Thr		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P1151T	ENST00000328333.8	37	c.3451	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	9.038	0.988957	0.18966	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.77620	-1.11;-1.11	4.88	3.95	0.45737	von Willebrand factor, type A (2);	0.155671	0.29932	N	0.010829	T	0.65344	0.2682	N	0.24115	0.695	0.19575	N	0.999966	P	0.47841	0.901	B	0.44224	0.444	T	0.57906	-0.7730	10	0.29301	T	0.29	.	10.9897	0.47543	0.0:0.0:0.8143:0.1857	.	1151	Q02388	CO7A1_HUMAN	T	1151	ENSP00000332371:P1151T;ENSP00000412569:P1151T	ENSP00000332371:P1151T	P	-	1	0	COL7A1	48598868	0.966000	0.33281	0.984000	0.44739	0.959000	0.62525	2.301000	0.43628	2.415000	0.81967	0.561000	0.74099	CCT	COL7A1	-	pfam_VWF_A,pfscan_VWF_A		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48623864	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.346	T	T	48623864	G	T	48623864	3	4	34	1	0	0	0	0	1	0	0	0	3709	1174	41	3	5755	3	COL7A1	3	48623864	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1574247	48623864	149398566	84	4551										
C3orf54	7318	genome.wustl.edu	37	chr3	49841843	49841843	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcatgccctggactgggactCtggcttctcggaggtgtcag	15	11	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:49841843C>G	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.S96C	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GACTGGGACTCTGGCTTCTCG	0.627																																																	0													80	78	78					3																	49841843		2203	4300	6503	SO:0001628	intergenic_variant	389119			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49841843C>G			Q9BRB2	Missense_Mutation	SNP	NULL	p.S96C	ENST00000333486.3	37	c.287	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507398	0.85282	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.2	5.2	0.72013	.	0.000000	0.45126	D	0.000399	T	0.79581	0.4470	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82157	-0.0596	9	0.87932	D	0	.	17.5243	0.87795	0.0:1.0:0.0:0.0	.	94	Q96EL1	CC054_HUMAN	C	96	.	ENSP00000329735:S96C	S	+	2	0	C3orf54	49816847	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.051000	0.57412	2.430000	0.82344	0.561000	0.74099	TCT	FAM212A	-	NULL		0.627	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM212A	HGNC	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49841843	1	no_errors	ENST00000333323	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49841843	C	G	49841843	1	3	34	0	1	0	0	0	0	0	0	0	2238	913	32	1		1	C3orf54	3	49841843	IGR	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1217979	49841843	148180587	85	4552										
RAD54L2	23132	genome.wustl.edu	37	chr3	51671288	51671288	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggctctgaagaatatccgctCtcgccgccgggtggtgctga	14	12	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:51671288C>G	ENST00000409535.2	+	10	1576	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S178C	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	484	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AATATCCGCTCTCGCCGCCGG	0.572																																																	0													51	46	48					3																	51671288		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1451C>G	3.37:g.51671288C>G	ENSP00000386520:p.Ser484Cys		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S484C	ENST00000409535.2	37	c.1451	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437110	0.83885	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93488	-3.23;-3.23	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.109901	0.64402	D	0.000005	D	0.94588	0.8256	L	0.31207	0.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.95407	0.8495	10	0.87932	D	0	-13.0965	18.3084	0.90190	0.0:1.0:0.0:0.0	.	484;75	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	C	484;178	ENSP00000386520:S484C;ENSP00000296477:S178C	ENSP00000296477:S178C	S	+	2	0	RAD54L2	51646328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.567000	0.86603	0.561000	0.74099	TCT	RAD54L2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.572	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	C	NM_015106		51671288	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51671288	C	G	51671288	3	3	34	1	0	0	0	0	1	0	0	0	13024	913	32	1	1485	1	RAD54L2	3	51671288	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1829445	51671288	146351142	86	4553										
ACTR8	93973	genome.wustl.edu	37	chr3	53911378	53911378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acctcttctgataggccagtGaatattgtaacagtccagtg	9	9	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:53911378G>A	ENST00000335754.3	-	5	647	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_Missense_Mutation_p.H72Y	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	183					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATAGGCCAGTGAATATTGTAA	0.423																																																	0													53	57	56					3																	53911378		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.547C>T	3.37:g.53911378G>A	ENSP00000336842:p.His183Tyr		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.H183Y	ENST00000335754.3	37	c.547	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833884	0.91036	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;D	0.94376	-3.41;-3.41	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	L	0.49571	1.57	0.80722	D	1	P	0.50272	0.933	P	0.51895	0.683	D	0.92903	0.6341	10	0.40728	T	0.16	1.0E-4	18.6387	0.91387	0.0:0.0:1.0:0.0	.	183	Q9H981	ARP8_HUMAN	Y	183;72;72	ENSP00000336842:H183Y;ENSP00000419429:H72Y	ENSP00000336842:H183Y	H	-	1	0	ACTR8	53886418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.434000	0.97515	2.835000	0.97688	0.650000	0.86243	CAC	ACTR8	-	pfam_Actin-like,smart_Actin-like		0.423	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	G	NM_022899		53911378	-1	no_errors	ENST00000335754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53911378	G	A	53911378	3	1	34	1	0	0	0	0	1	0	0	0	217	1290	45	1	1363	1	ACTR8	3	53911378	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2240090	53911378	144111052	87	4554										
SYNPR	132204	genome.wustl.edu	37	chr3	63601102	63601102	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcgagtttggggccaacctCagatgagtttggccaacagc	14	10	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:63601102C>G	ENST00000295894.5	+	5	1112	c.743C>G	c.(742-744)tCa>tGa	p.S248*	SYNPR_ENST00000478300.1_Nonsense_Mutation_p.S268*|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000460711.1_Nonsense_Mutation_p.S259*|SYNPR_ENST00000465156.1_Nonsense_Mutation_p.S184*	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	248						cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GGGCCAACCTCAGATGAGTTT	0.493																																					NSCLC(29;1052 1116 20025 32519)												0													52	56	55					3																	63601102		1938	4132	6070	SO:0001587	stop_gained	132204			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.743C>G	3.37:g.63601102C>G	ENSP00000295894:p.Ser248*		B2R675|G5E9W4	Nonsense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.S268*	ENST00000295894.5	37	c.803	CCDS46860.1	3	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671938	0.67928	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000460711;ENST00000465156	.	.	.	5.5	4.57	0.56435	.	1.034700	0.07604	N	0.924144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-9.7075	8.3486	0.32288	0.0:0.75:0.161:0.089	.	.	.	.	X	268;248;259;184	.	ENSP00000295894:S248X	S	+	2	0	SYNPR	63576142	0.756000	0.28383	0.289000	0.24876	0.990000	0.78478	2.423000	0.44705	2.580000	0.87095	0.467000	0.42956	TCA	SYNPR	-	NULL		0.493	SYNPR-004	KNOWN	basic|CCDS	protein_coding	SYNPR	HGNC	protein_coding	OTTHUMT00000351787.1	C			63601102	1	no_errors	ENST00000478300	ensembl	human	known	70_37	nonsense	SNP	0.534	G	G	63601102	C	G	63601102	4	3	34	1	0	0	0	0	0	1	0	0	15489	838	29	1	853	1	SYNPR	3	63601102	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	9689724	63601102	134421328	88	4555										
LMOD3	56203	genome.wustl.edu	37	chr3	69168914	69168914	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctctggtctgtctctctgttCtttgaatgctttgtcagtta	8	9	6	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:69168914C>T	ENST00000420581.2	-	2	771	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	LMOD3_ENST00000475434.1_Missense_Mutation_p.E198K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E198K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	198						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTCTCTGTTCTTTGAATGCT	0.398																																																	0													109	96	100					3																	69168914		1923	4130	6053	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.592G>A	3.37:g.69168914C>T	ENSP00000414670:p.Glu198Lys		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.E198K	ENST00000420581.2	37	c.592	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832505	0.02713	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.91686	-2.89;-2.89;-2.89	5.34	2.48	0.30137	.	0.784756	0.12223	N	0.488189	D	0.84714	0.5533	L	0.32530	0.975	0.09310	N	0.999996	B	0.28713	0.22	B	0.24541	0.054	T	0.66870	-0.5814	10	0.11182	T	0.66	-4.2115	9.9442	0.41598	0.0:0.5288:0.3996:0.0716	.	198	Q0VAK6	LMOD3_HUMAN	K	198	ENSP00000414670:E198K;ENSP00000417210:E198K;ENSP00000418645:E198K	ENSP00000414670:E198K	E	-	1	0	LMOD3	69251604	0.000000	0.05858	0.015000	0.15790	0.098000	0.18820	0.373000	0.20484	0.212000	0.20703	-0.282000	0.10007	GAA	LMOD3	-	NULL		0.398	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	C	XM_067529		69168914	-1	no_errors	ENST00000420581	ensembl	human	known	70_37	missense	SNP	0.100	T	T	69168914	C	T	69168914	3	4	34	1	0	0	0	0	1	0	0	0	8879	922	32	1	1098	1	LMOD3	3	69168914	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5567812	69168914	128853516	89	4556										
OR5H15	403274	genome.wustl.edu	37	chr3	97888338	97888338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tatgtgggccctgcatctccGcaagcagatggtcaaaatat	10	10	2	1	rs371915983		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:97888338G>A	ENST00000356526.2	+	1	795	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CTGCATCTCCGCAAGCAGATG	0.443																																																	0								G		1,4405		0,1,2202	83	87	86		795	-3.6	0	3		86	0,8598		0,0,4299	no	coding-synonymous	OR5H15	NM_001005515.1		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		265/314	97888338	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.795G>A	3.37:g.97888338G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P265	ENST00000356526.2	37	c.795	CCDS33799.1	3																																																																																			OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	G			97888338	1	no_errors	ENST00000356526	ensembl	human	known	70_37	silent	SNP	0.000	A	A	97888338	G	A	97888338	2	1	34	1	0	0	0	0	0	0	0	1	11185	1074	38	2		2	OR5H15	3	97888338	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	28719424	97888338	100134092	90	4557										
DZIP3	9666	genome.wustl.edu	37	chr3	108407541	108407541	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaaccagcctggaggccactCacttcacagggtcctgccac	9	16	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:108407541C>T	ENST00000361582.3	+	30	3602	c.3372C>T	c.(3370-3372)ctC>ctT	p.L1124L	DZIP3_ENST00000463306.1_Silent_p.L1124L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1124					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAGGCCACTCACTTCACAGG	0.458																																																	0													40	41	41					3																	108407541		2203	4300	6503	SO:0001819	synonymous_variant	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3372C>T	3.37:g.108407541C>T			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L1124	ENST00000361582.3	37	c.3372	CCDS2952.1	3																																																																																			DZIP3	-	NULL		0.458	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108407541	1	no_errors	ENST00000361582	ensembl	human	known	70_37	silent	SNP	0.227	T	T	108407541	C	T	108407541	2	4	34	1	0	0	0	0	0	0	0	1	4875	813	29	1		1	DZIP3	3	108407541	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10519203	108407541	89614889	91	4558										
POLQ	10721	genome.wustl.edu	37	chr3	121158950	121158950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttcttcactgtctctgtcatGaattgattaatccctacaaa	4	10	4	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:121158950G>C	ENST00000264233.5	-	27	7406	c.7278C>G	c.(7276-7278)ttC>ttG	p.F2426L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2426					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)			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)		TCTCTGTCATGAATTGATTAA	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													82	80	81					3																	121158950		2201	4299	6500	SO:0001583	missense	10721			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.7278C>G	3.37:g.121158950G>C	ENSP00000264233:p.Phe2426Leu		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.F2426L	ENST00000264233.5	37	c.7278	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611145	0.66558	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96041	-3.89	4.85	3.98	0.46160	DNA-directed DNA polymerase, family A, palm domain (2);	0.104259	0.64402	D	0.000002	D	0.97222	0.9092	M	0.78223	2.4	0.33298	D	0.564372	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.991	D	0.99883	1.1117	10	0.72032	D	0.01	.	12.8359	0.57773	0.0798:0.0:0.9202:0.0	.	2426;1598	O75417;O75417-2	DPOLQ_HUMAN;.	L	2049;2426;2562	ENSP00000264233:F2426L	ENSP00000264233:F2426L	F	-	3	2	POLQ	122641640	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.807000	0.47955	1.281000	0.44480	-0.251000	0.11542	TTC	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121158950	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121158950	G	C	121158950	3	2	34	1	0	0	0	0	1	0	0	0	12232	1281	45	1	510	1	POLQ	3	121158950	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	12751409	121158950	76863480	92	4559										
C3orf27	23434	genome.wustl.edu	37	chr3	128292452	128292452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cttccaaccaccctggcccaGggtgcctaggggctgagagt	13	14	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:128292452G>A	ENST00000356020.2	-	3	1087	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	41										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CCCTGGCCCAGGGTGCCTAGG	0.642																																																	0													35	38	37					3																	128292452		2203	4300	6503	SO:0001819	synonymous_variant	23434			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.121C>T	3.37:g.128292452G>A				Silent	SNP	NULL	p.L41	ENST00000356020.2	37	c.121	CCDS3050.1	3																																																																																			C3orf27	-	NULL		0.642	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	G	NM_007354		128292452	-1	no_errors	ENST00000356020	ensembl	human	known	70_37	silent	SNP	0.000	A	A	128292452	G	A	128292452	2	1	34	1	0	0	0	0	0	0	0	1	2224	991	35	4		4	C3orf27	3	128292452	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7133502	128292452	69729978	93	4560										
ZIC1	7545	genome.wustl.edu	37	chr3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcgcttcgctaacagcagcGaccgcaagaagcacatgcac	11	14	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											123	101	109					3																	147130364		2203	4300	6503	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1042G>A	3.37:g.147130364G>A	ENSP00000282928:p.Asp348Asn		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D348N	ENST00000282928.4	37	c.1042	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.101396	0.94245	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	N	0.17248	0.465	0.80722	D	1	D	0.54047	0.964	P	0.55999	0.789	T	0.17592	-1.0364	10	0.87932	D	0	.	15.1592	0.72767	0.0:0.0:1.0:0.0	.	348	Q15915	ZIC1_HUMAN	N	348	ENSP00000282928:D348N	ENSP00000282928:D348N	D	+	1	0	ZIC1	148613054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.515000	0.98015	1.772000	0.52199	0.462000	0.41574	GAC	ZIC1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	G	NM_003412		147130364	1	no_errors	ENST00000282928	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147130364	G	A	147130364	3	1	34	1	0	0	0	0	1	0	0	0	17708	1058	37	1	1048	1	ZIC1	3	147130364	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	18837912	147130364	50892066	94	4561										
PLCH1	23007	genome.wustl.edu	37	chr3	155203488	155203488	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aacagtcccttcagaccctgGagttgtctgttctgaagaca	9	11	3	3	rs143064400		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:155203488G>A	ENST00000340059.7	-	22	2654	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Silent_p.L847L|PLCH1_ENST00000334686.6_Silent_p.L847L|PLCH1_ENST00000414191.1_Silent_p.L847L|PLCH1_ENST00000494598.1_Silent_p.L865L|PLCH1_ENST00000447496.2_Silent_p.L885L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	885					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGACCCTGGAGTTGTCTGT	0.408																																																	0													44	44	44					3																	155203488		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2655C>T	3.37:g.155203488G>A			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L885	ENST00000340059.7	37	c.2655	CCDS46939.1	3																																																																																			PLCH1	-	NULL		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155203488	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	silent	SNP	0.994	A	A	155203488	G	A	155203488	2	1	34	1	0	0	0	0	0	0	0	1	12061	1161	41	1		1	PLCH1	3	155203488	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	8073124	155203488	42818942	95	4562										
PLCH1	23007	genome.wustl.edu	37	chr3	155271939	155271939	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atttttgaagtgagagtgtaAccatgatgtactactggctc	10	6	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:155271939A>T	ENST00000340059.7	-	8	1079	c.1080T>A	c.(1078-1080)ggT>ggA	p.G360G	PLCH1_ENST00000460012.1_Silent_p.G342G|PLCH1_ENST00000334686.6_Silent_p.G342G|PLCH1_ENST00000414191.1_Silent_p.G342G|PLCH1_ENST00000494598.1_Silent_p.G360G|PLCH1_ENST00000447496.2_Silent_p.G360G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	360	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAGAGTGTAACCATGATGTA	0.413																																																	0													145	132	137					3																	155271939		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1080T>A	3.37:g.155271939A>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G360	ENST00000340059.7	37	c.1080	CCDS46939.1	3																																																																																			PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	A	NM_014996		155271939	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	silent	SNP	0.946	T	T	155271939	A	T	155271939	2	4	34	1	0	0	0	0	0	0	0	1	12061	30	2	5		5	PLCH1	3	155271939	Silent	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	68451	155271939	42750491	96	4563										
SI	6476	genome.wustl.edu	37	chr3	164764781	164764781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatgaagcttctcttattagGaaaaactttttgtacagctc	6	7	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:164764781G>A	ENST00000264382.3	-	16	1797	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	579	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTCTTATTAGGAAAAACTTTT	0.303										HNSCC(35;0.089)																																							0													41	41	41					3																	164764781		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1735C>T	3.37:g.164764781G>A	ENSP00000264382:p.Pro579Ser		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.P579S	ENST00000264382.3	37	c.1735	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	5.067	0.198056	0.09652	.	.	ENSG00000090402	ENST00000264382	D	0.93659	-3.26	5.36	4.47	0.54385	Glycoside hydrolase, superfamily (1);	0.123590	0.56097	D	0.000026	D	0.90174	0.6929	L	0.50847	1.595	0.35627	D	0.809942	B	0.17465	0.022	B	0.18871	0.023	D	0.88632	0.3170	10	0.33940	T	0.23	.	12.2156	0.54404	0.0:0.0:0.6902:0.3098	.	579	P14410	SUIS_HUMAN	S	579	ENSP00000264382:P579S	ENSP00000264382:P579S	P	-	1	0	SI	166247475	1.000000	0.71417	0.998000	0.56505	0.381000	0.30169	3.532000	0.53553	1.223000	0.43536	0.467000	0.42956	CCT	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164764781	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.999	A	A	164764781	G	A	164764781	3	1	34	1	0	0	0	0	1	0	0	0	14327	1174	41	1	3880	1	SI	3	164764781	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	9492842	164764781	33257649	97	4564										
ZBBX	79740	genome.wustl.edu	37	chr3	167051682	167051682	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttttactggtttcctttgtaGaattattctcctctttgggt	7	7	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:167051682G>C	ENST00000392766.2	-	10	960	c.620C>G	c.(619-621)tCt>tGt	p.S207C	ZBBX_ENST00000392764.1_Missense_Mutation_p.S178C|ZBBX_ENST00000392767.2_Missense_Mutation_p.S207C|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.S207C|ZBBX_ENST00000455345.2_Missense_Mutation_p.S207C	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	207						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCCTTTGTAGAATTATTCTC	0.338																																																	0													146	132	137					3																	167051682		1816	4079	5895	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.620C>G	3.37:g.167051682G>C	ENSP00000376519:p.Ser207Cys		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.S207C	ENST00000392766.2	37	c.620	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573233	0.45902	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11930	2.9;2.9;2.89;2.89;2.73	5.03	2.77	0.32553	.	0.891183	0.09020	U	0.860352	T	0.13200	0.0320	L	0.51422	1.61	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.17098	0.017;0.007	T	0.26985	-1.0087	10	0.52906	T	0.07	-1.2013	4.4135	0.11445	0.1489:0.2272:0.6239:0.0	.	207;207	A8MT70-2;A8MT70	.;ZBBX_HUMAN	C	207;207;207;207;178	ENSP00000376519:S207C;ENSP00000376520:S207C;ENSP00000390232:S207C;ENSP00000305065:S207C;ENSP00000376517:S178C	ENSP00000305065:S207C	S	-	2	0	ZBBX	168534376	0.024000	0.19004	0.003000	0.11579	0.018000	0.09664	1.505000	0.35736	1.197000	0.43143	0.650000	0.86243	TCT	ZBBX	-	NULL		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167051682	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	0.001	C	C	167051682	G	C	167051682	3	2	34	1	0	0	0	0	1	0	0	0	17547	942	33	1	1830	1	ZBBX	3	167051682	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2286901	167051682	30970748	98	4565										
TNIK	23043	genome.wustl.edu	37	chr3	170858273	170858273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctccctctcctgctgcttcCgcagctccttctctcgcctt	6	20	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:170858273C>T	ENST00000436636.2	-	13	1591	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	TNIK_ENST00000470834.1_Missense_Mutation_p.R416Q|TNIK_ENST00000538048.1_Missense_Mutation_p.R416Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R416Q|TNIK_ENST00000341852.6_Missense_Mutation_p.R416Q|TNIK_ENST00000460047.1_Missense_Mutation_p.R416Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R416Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R416Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R416Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R416Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	416	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGCTGCTTCCGCAGCTCCTT	0.632																																																	0													81	89	87					3																	170858273		2046	4188	6234	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1247G>A	3.37:g.170858273C>T	ENSP00000399511:p.Arg416Gln		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R416Q	ENST00000436636.2	37	c.1247	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803605	0.70682	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.52983	3.7;0.64;3.69;0.64;4.32;0.64;0.64;3.69;3.69;0.64	5.55	5.55	0.83447	.	0.058706	0.64402	D	0.000003	T	0.52948	0.1766	M	0.79123	2.44	0.47862	D	0.999532	P;P;P;P;P;P;P;P	0.45672	0.864;0.864;0.864;0.864;0.864;0.864;0.864;0.787	B;B;B;B;B;B;B;B	0.39027	0.288;0.288;0.288;0.288;0.288;0.288;0.288;0.15	T	0.61802	-0.6988	10	0.54805	T	0.06	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	416;416;416;416;416;416;416;416	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	416	ENSP00000399511:R416Q;ENSP00000358332:R416Q;ENSP00000443278:R416Q;ENSP00000345352:R416Q;ENSP00000284483:R416Q;ENSP00000418156:R416Q;ENSP00000349880:R416Q;ENSP00000418916:R416Q;ENSP00000418378:R416Q;ENSP00000419990:R416Q	ENSP00000284483:R416Q	R	-	2	0	TNIK	172340967	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	4.636000	0.61339	2.608000	0.88229	0.650000	0.86243	CGG	TNIK	-	NULL		0.632	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170858273	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170858273	C	T	170858273	3	4	34	1	0	0	0	0	1	0	0	0	16343	652	23	2	2919	2	TNIK	3	170858273	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3806591	170858273	27164157	99	4566										
FNDC3B	64778	genome.wustl.edu	37	chr3	172052800	172052800	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgtttgtacgacgagtcctGacaggcctggacctcctacc	10	13	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:172052800G>C	ENST00000336824.4	+	15	1807	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D570H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D570H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	570	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GACGAGTCCTGACAGGCCTGG	0.463																																																	0													212	203	206					3																	172052800		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1708G>C	3.37:g.172052800G>C	ENSP00000338523:p.Asp570His		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D570H	ENST00000336824.4	37	c.1708	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019163	0.93462	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58940	0.3;0.3;0.3	6.16	6.16	0.99307	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.041082	0.85682	D	0.000000	D	0.82664	0.5086	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.964	D	0.84781	0.0773	10	0.87932	D	0	-32.0685	20.8598	0.99761	0.0:0.0:1.0:0.0	.	570;570	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	H	570	ENSP00000411242:D570H;ENSP00000338523:D570H;ENSP00000389094:D570H	ENSP00000338523:D570H	D	+	1	0	FNDC3B	173535494	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	9.023000	0.93683	2.937000	0.99478	0.650000	0.86243	GAC	FNDC3B	-	superfamily_Fibronectin_type3		0.463	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	G	NM_022763		172052800	1	no_errors	ENST00000336824	ensembl	human	known	70_37	missense	SNP	1.000	C	C	172052800	G	C	172052800	3	2	34	1	0	0	0	0	1	0	0	0	5988	1290	45	1	1762	1	FNDC3B	3	172052800	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1194527	172052800	25969630	100	4567										
ATP11B	23200	genome.wustl.edu	37	chr3	182587045	182587045	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tattatttgctaaaggagctGagtcatcaattctccctaaa	6	8	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:182587045G>A	ENST00000323116.5	+	17	2052	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	598					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TAAAGGAGCTGAGTCATCAAT	0.289																																																	0													43	44	44					3																	182587045		2201	4292	6493	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1792G>A	3.37:g.182587045G>A	ENSP00000321195:p.Glu598Lys		Q96FN1|Q9UKK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E598K	ENST00000323116.5	37	c.1792	CCDS33896.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.478927	0.96291	.	.	ENSG00000058063	ENST00000323116	T	0.70045	-0.45	5.63	5.63	0.86233	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.974	D;D	0.85130	0.997;0.96	D	0.85900	0.1434	10	0.87932	D	0	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	172;598	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	K	598	ENSP00000321195:E598K	ENSP00000321195:E598K	E	+	1	0	ATP11B	184069739	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	GAG	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.289	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	G	NM_014616		182587045	1	no_errors	ENST00000323116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182587045	G	A	182587045	3	1	34	1	0	0	0	0	1	0	0	0	1121	1291	45	1	1858	1	ATP11B	3	182587045	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	10534245	182587045	15435385	101	4568										
AP2M1	1173	genome.wustl.edu	37	chr3	183899783	183899783	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acgcaccaaactggaggtcaAggtggtcatcaagtccaact	10	11	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:183899783A>T	ENST00000292807.5	+	9	1059	c.911A>T	c.(910-912)aAg>aTg	p.K304M	AP2M1_ENST00000439647.1_Missense_Mutation_p.K302M|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.K302M|AP2M1_ENST00000411763.2_Missense_Mutation_p.K329M|AP2M1_ENST00000461733.1_3'UTR	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	304	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGAGGTCAAGGTGGTCATC	0.537																																																	0													59	59	59					3																	183899783		2029	4178	6207	SO:0001583	missense	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.911A>T	3.37:g.183899783A>T	ENSP00000292807:p.Lys304Met		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.K304M	ENST00000292807.5	37	c.911	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460862	0.84317	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	6.17	6.17	0.99709	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.33710	1.025	0.80722	D	1	P;P;D;D;D	0.76494	0.953;0.861;0.997;0.999;0.996	P;P;P;D;P	0.70935	0.899;0.613;0.884;0.971;0.815	T	0.02821	-1.1106	10	0.23891	T	0.37	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	194;174;304;329;302	B7Z4N2;B4DTI4;Q96CW1;E9PFW3;Q96CW1-2	.;.;AP2M1_HUMAN;.;.	M	302;329;304;244;289;302;233	ENSP00000371894:K302M;ENSP00000403362:K329M;ENSP00000292807:K304M;ENSP00000409081:K302M;ENSP00000395438:K233M	ENSP00000292807:K304M	K	+	2	0	AP2M1	185382477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	AAG	AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.537	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	A	NM_004068		183899783	1	no_errors	ENST00000292807	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183899783	A	T	183899783	3	4	34	1	0	0	0	0	1	0	0	0	742	72	3	5	938	5	AP2M1	3	183899783	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	1312738	183899783	14122647	102	4569										
PIGG	54872	genome.wustl.edu	37	chr4	524319	524319	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatctcaagtcattgctgcaGacttcaaactcaagactgta	6	10	4	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:524319G>C	ENST00000453061.2	+	11	2462	c.2356G>C	c.(2356-2358)Gac>Cac	p.D786H	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.D697H|PIGG_ENST00000383028.4_Missense_Mutation_p.D653H|PIGG_ENST00000310340.5_Missense_Mutation_p.D778H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	786					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CATTGCTGCAGACTTCAAACT	0.398																																																	0													189	188	188					4																	524319		2203	4300	6503	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2356G>C	4.37:g.524319G>C	ENSP00000415203:p.Asp786His		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D786H	ENST00000453061.2	37	c.2356	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552658	0.45487	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10763	3.16;3.17;2.84;2.84	5.62	4.78	0.61160	.	0.230855	0.50627	D	0.000117	T	0.26231	0.0640	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.999;0.976;0.986	D;P;P	0.68039	0.955;0.713;0.851	T	0.05022	-1.0911	10	0.18276	T	0.48	-7.3647	12.5198	0.56052	0.0813:0.0:0.9186:0.0	.	653;786;778	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	778;786;697;653	ENSP00000311750:D778H;ENSP00000415203:D786H;ENSP00000424800:D697H;ENSP00000372494:D653H	ENSP00000311750:D778H	D	+	1	0	PIGG	514319	1.000000	0.71417	0.003000	0.11579	0.328000	0.28507	8.862000	0.92283	1.498000	0.48600	0.655000	0.94253	GAC	PIGG	-	NULL		0.398	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	G	NM_017733		524319	1	no_errors	ENST00000453061	ensembl	human	known	70_37	missense	SNP	0.129	C	C	524319	G	C	524319	3	2	34	1	0	0	0	0	1	0	0	0	11912	942	33	1	2398	1	PIGG	4	524319	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		524319	190629957	103	4570										
ADD1	118	genome.wustl.edu	37	chr4	2910284	2910284	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acattaagacggctggccctCagtcccaggttttgtgtggt	12	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:2910284C>T	ENST00000398129.1	+	11	1578	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	ADD1_ENST00000264758.7_Nonsense_Mutation_p.Q551*|ADD1_ENST00000398123.2_Nonsense_Mutation_p.Q551*|ADD1_ENST00000503455.2_Nonsense_Mutation_p.Q551*|ADD1_ENST00000513328.2_Nonsense_Mutation_p.Q520*|ADD1_ENST00000398125.1_Nonsense_Mutation_p.Q551*|ADD1_ENST00000355842.3_Nonsense_Mutation_p.Q520*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Q520*			P35611	ADDA_HUMAN	adducin 1 (alpha)	520					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCTGGCCCTCAGTCCCAGGT	0.567																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													176	139	152					4																	2910284		2203	4300	6503	SO:0001587	stop_gained	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1558C>T	4.37:g.2910284C>T	ENSP00000381197:p.Gln520*		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Nonsense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Q551*	ENST00000398129.1	37	c.1651	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.576219	0.99750	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129;ENST00000536424	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-26.831	20.3053	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	X	551;520;551;520;551;520;551;520;20	.	ENSP00000264758:Q551X	Q	+	1	0	ADD1	2880082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.808000	0.96608	0.655000	0.94253	CAG	ADD1	-	NULL		0.567	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2910284	1	no_errors	ENST00000264758	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2910284	C	T	2910284	4	4	34	1	0	0	0	0	0	1	0	0	304	827	29	1	1693	1	ADD1	4	2910284	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2385965	2910284	188243992	104	4571										
SH3TC1	54436	genome.wustl.edu	37	chr4	8229939	8229939	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggctgcacgtgcttcatgggCagagcccggtggccctggac	16	13	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:8229939C>T	ENST00000245105.3	+	12	2585	c.2518C>T	c.(2518-2520)Cag>Tag	p.Q840*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.Q764*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	840										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTTCATGGGCAGAGCCCGGT	0.652																																					NSCLC(145;2298 2623 35616 37297)												0													36	34	34					4																	8229939		2201	4299	6500	SO:0001587	stop_gained	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2518C>T	4.37:g.8229939C>T	ENSP00000245105:p.Gln840*		Q4W5G5	Nonsense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.Q840*	ENST00000245105.3	37	c.2518	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970879	0.92919	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.5	-0.0434	0.13859	.	0.485095	0.21789	N	0.069085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-7.6588	8.1953	0.31392	0.4184:0.3243:0.2573:0.0	.	.	.	.	X	578;840;764;669	.	ENSP00000245105:Q840X	Q	+	1	0	SH3TC1	8280839	0.953000	0.32496	0.001000	0.08648	0.077000	0.17291	3.069000	0.50026	-0.053000	0.13289	0.462000	0.41574	CAG	SH3TC1	-	NULL		0.652	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8229939	1	no_errors	ENST00000245105	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	8229939	C	T	8229939	4	4	34	1	0	0	0	0	0	1	0	0	14291	711	25	4	2560	4	SH3TC1	4	8229939	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5319655	8229939	182924337	105	4572										
SLIT2	9353	genome.wustl.edu	37	chr4	20255564	20255564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcagcacagtggactgtcaCgggctggcgctgcgcagcgt	17	12	1	0	rs200103892		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:20255564C>T	ENST00000504154.1	+	1	378	c.126C>T	c.(124-126)caC>caT	p.H42H	SLIT2_ENST00000503837.1_Silent_p.H42H|SLIT2_ENST00000273739.5_Silent_p.H42H|SLIT2_ENST00000503823.1_Silent_p.H42H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	42	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGACTGTCACGGGCTGGCGC	0.662																																																	0													94	79	84					4																	20255564		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.126C>T	4.37:g.20255564C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.H42	ENST00000504154.1	37	c.126	CCDS3426.1	4																																																																																			SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.662	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20255564	1	no_errors	ENST00000504154	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20255564	C	T	20255564	2	4	34	1	0	0	0	0	0	0	0	1	14770	535	19	2		2	SLIT2	4	20255564	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	12025625	20255564	170898712	106	4573										
LRRC66	339977	genome.wustl.edu	37	chr4	52861188	52861188	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccatcttggaggaaagactGatgggcctgtgtctcttggg	14	9	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:52861188G>C	ENST00000343457.3	-	4	2006	c.2000C>G	c.(1999-2001)tCa>tGa	p.S667*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	667						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGGAAAGACTGATGGGCCTGT	0.557																																																	0													83	81	81					4																	52861188		1995	4166	6161	SO:0001587	stop_gained	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2000C>G	4.37:g.52861188G>C	ENSP00000341944:p.Ser667*			Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S667*	ENST00000343457.3	37	c.2000	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113189	0.56398	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.3	0.546	0.17196	.	0.837114	0.10294	N	0.692027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.8604	3.5082	0.07699	0.3824:0.0:0.4452:0.1724	.	.	.	.	X	667	.	ENSP00000341944:S667X	S	-	2	0	LRRC66	52555945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.134000	0.10436	-0.046000	0.13446	-0.136000	0.14681	TCA	LRRC66	-	NULL		0.557	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	G	NM_001024611		52861188	-1	no_errors	ENST00000343457	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	52861188	G	C	52861188	4	2	34	1	0	0	0	0	0	1	0	0	9041	1294	45	1	646	1	LRRC66	4	52861188	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	32605624	52861188	138293088	107	4574										
GSX2	170825	genome.wustl.edu	37	chr4	54966573	54966573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cacctcacggcctgcgccctCgctgcctgaaccgcaccccg	9	22	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:54966573C>T	ENST00000326902.2	+	1	376	c.62C>T	c.(61-63)tCg>tTg	p.S21L	GSX2_ENST00000503800.1_Missense_Mutation_p.S21L|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	21					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CCTGCGCCCTCGCTGCCTGAA	0.672																																																	0													49	39	43					4																	54966573		2203	4300	6503	SO:0001583	missense	170825				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.62C>T	4.37:g.54966573C>T	ENSP00000319118:p.Ser21Leu			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S21L	ENST00000326902.2	37	c.62	CCDS3494.1	4	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743155	0.49151	.	.	ENSG00000180613	ENST00000326902;ENST00000503800	T;T	0.79653	-1.29;-1.29	4.43	4.43	0.53597	.	0.389338	0.21410	N	0.074995	T	0.66684	0.2814	N	0.22421	0.69	0.34831	D	0.739734	B	0.32071	0.355	B	0.19391	0.025	T	0.75280	-0.3373	10	0.48119	T	0.1	.	13.1398	0.59428	0.1605:0.8395:0.0:0.0	.	21	Q9BZM3	GSX2_HUMAN	L	21	ENSP00000319118:S21L;ENSP00000422213:S21L	ENSP00000319118:S21L	S	+	2	0	GSX2	54661330	0.991000	0.36638	1.000000	0.80357	0.960000	0.62799	3.416000	0.52707	2.305000	0.77605	0.491000	0.48974	TCG	GSX2	-	NULL		0.672	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX2	HGNC	protein_coding	OTTHUMT00000250595.1	C	NM_133267		54966573	1	no_errors	ENST00000326902	ensembl	human	known	70_37	missense	SNP	0.998	T	T	54966573	C	T	54966573	3	4	34	1	0	0	0	0	1	0	0	0	6870	893	31	1	64	1	GSX2	4	54966573	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2105385	54966573	136187703	108	4575										
UNC5C	8633	genome.wustl.edu	37	chr4	96104152	96104152	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gttcaggctaaatctttccaGagtgaaggtgcagtgcaggt	13	7	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:96104152G>A	ENST00000453304.1	-	14	2695	c.2347C>T	c.(2347-2349)Ctg>Ttg	p.L783L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	783					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATCTTTCCAGAGTGAAGGTG	0.458																																																	0													169	147	155					4																	96104152		2203	4300	6503	SO:0001819	synonymous_variant	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2347C>T	4.37:g.96104152G>A			Q8IUT0	Silent	SNP	pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,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.L783	ENST00000453304.1	37	c.2347	CCDS3643.1	4																																																																																			UNC5C	-	NULL		0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	G	NM_003728		96104152	-1	no_errors	ENST00000453304	ensembl	human	known	70_37	silent	SNP	0.993	A	A	96104152	G	A	96104152	2	1	34	1	0	0	0	0	0	0	0	1	17024	933	33	1		1	UNC5C	4	96104152	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	41137579	96104152	95050124	109	4576										
DNAJB14	79982	genome.wustl.edu	37	chr4	100826837	100826837	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcaatacaattatgggcatCagctggataaacacagaaaa	7	7	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:100826837C>T	ENST00000442697.2	-	6	913	c.759G>A	c.(757-759)ctG>ctA	p.L253L		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	253						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTATGGGCATCAGCTGGATAA	0.333																																																	0													96	97	97					4																	100826837		2203	4300	6503	SO:0001819	synonymous_variant	79982			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"Heat shock proteins / DNAJ (HSP40)"	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.759G>A	4.37:g.100826837C>T			Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Silent	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L253	ENST00000442697.2	37	c.759	CCDS34035.1	4																																																																																			DNAJB14	-	NULL		0.333	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB14	HGNC	protein_coding	OTTHUMT00000253696.2	C	NM_001031723.2		100826837	-1	no_errors	ENST00000442697	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100826837	C	T	100826837	2	4	34	1	0	0	0	0	0	0	0	1	4629	813	29	1		1	DNAJB14	4	100826837	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4722685	100826837	90327439	110	4577										
BBS7	55212	genome.wustl.edu	37	chr4	122780308	122780308	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atagatgtaacttgcactgaGaaagaggtctgagccagata	11	6	1	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:122780308G>A	ENST00000264499.4	-	5	550	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F	BBS7_ENST00000506636.1_Missense_Mutation_p.L123F	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	123					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTGCACTGAGAAAGAGGTCT	0.338									Bardet-Biedl syndrome																																								0													105	109	108					4																	122780308		2203	4300	6503	SO:0001583	missense	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.367C>T	4.37:g.122780308G>A	ENSP00000264499:p.Leu123Phe		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.L123F	ENST00000264499.4	37	c.367	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224741	0.79576	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.71934	-0.61;-0.61	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.065753	0.64402	D	0.000008	T	0.80470	0.4629	M	0.77103	2.36	0.58432	D	0.99999	P	0.51537	0.946	P	0.57502	0.822	T	0.82641	-0.0357	10	0.66056	D	0.02	-8.5282	12.0686	0.53603	0.0787:0.0:0.9213:0.0	.	123	Q8IWZ6	BBS7_HUMAN	F	123	ENSP00000264499:L123F;ENSP00000423626:L123F	ENSP00000264499:L123F	L	-	1	0	BBS7	122999758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.525000	0.67110	2.413000	0.81919	0.655000	0.94253	CTC	BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot		0.338	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	G			122780308	-1	no_errors	ENST00000264499	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122780308	G	A	122780308	3	1	34	1	0	0	0	0	1	0	0	0	1342	942	33	1	1845	1	BBS7	4	122780308	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	21953471	122780308	68373968	111	4578										
ELF2	1998	genome.wustl.edu	37	chr4	139980712	139980712	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgccacagttgaaattttctGacccaatgatgtcattacaa	6	9	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:139980712G>A	ENST00000394235.2	-	10	1673	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	ELF2_ENST00000265495.4_Nonsense_Mutation_p.Q391*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Nonsense_Mutation_p.Q331*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.Q343*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.Q403*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.Q314*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GAAATTTTCTGACCCAATGAT	0.403																																																	0													103	99	100					4																	139980712		2203	4299	6502	SO:0001587	stop_gained	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1171C>T	4.37:g.139980712G>A	ENSP00000377782:p.Gln391*			Nonsense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.Q403*	ENST00000394235.2	37	c.1207	CCDS3744.1	4	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794988	0.90453	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6057	0.95580	0.0:0.0:1.0:0.0	.	.	.	.	X	343;391;403;391;314;206;331	.	.	Q	-	1	0	ELF2	140200162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.356000	0.79445	2.629000	0.89072	0.650000	0.86243	CAG	ELF2	-	NULL		0.403	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	G	NM_006874		139980712	-1	no_errors	ENST00000379550	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	139980712	G	A	139980712	4	1	34	1	0	0	0	0	0	1	0	0	5066	1299	45	1	578	1	ELF2	4	139980712	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	17200404	139980712	51173564	112	4579										
RAB33B	83452	genome.wustl.edu	37	chr4	140375356	140375356	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcgggtcgggggaatggctGaggagatggagtcgtcgctc	21	7	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:140375356G>A	ENST00000305626.5	+	1	396	c.7G>A	c.(7-9)Gag>Aag	p.E3K	RAB33B_ENST00000507271.1_3'UTR|RP11-83A24.2_ENST00000608661.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000610159.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	3					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GGGAATGGCTGAGGAGATGGA	0.632																																																	0													29	31	30					4																	140375356		2203	4300	6503	SO:0001583	missense	83452			AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"RAB, member RAS oncogene"	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.7G>A	4.37:g.140375356G>A	ENSP00000306496:p.Glu3Lys		B2R987|Q4W5B0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E3K	ENST00000305626.5	37	c.7	CCDS3747.1	4	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613034	0.46631	.	.	ENSG00000172007	ENST00000305626	T	0.65549	-0.16	4.5	-1.6	0.08426	.	0.944696	0.08778	N	0.895102	T	0.39279	0.1072	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33033	-0.9884	10	0.62326	D	0.03	.	8.9662	0.35879	0.1273:0.0:0.6128:0.2599	.	3	Q9H082	RB33B_HUMAN	K	3	ENSP00000306496:E3K	ENSP00000306496:E3K	E	+	1	0	RAB33B	140594806	.	.	0.523000	0.27875	0.406000	0.30931	.	.	-0.007000	0.14345	-0.521000	0.04368	GAG	RAB33B	-	NULL		0.632	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33B	HGNC	protein_coding	OTTHUMT00000257235.2	G	NM_031296		140375356	1	no_errors	ENST00000305626	ensembl	human	known	70_37	missense	SNP	0.016	A	A	140375356	G	A	140375356	3	1	34	1	0	0	0	0	1	0	0	0	12953	1291	45	1	9	1	RAB33B	4	140375356	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	394644	140375356	50778920	113	4580										
MAB21L2	10586	genome.wustl.edu	37	chr4	151504776	151504776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcccttggcccggccccaatCgggtggccgaggtcaaggcc	14	16	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:151504776C>T	ENST00000317605.4	+	1	1700	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	199					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGGCCCCAATCGGGTGGCCGA	0.642																																																	0													33	36	35					4																	151504776		2202	4298	6500	SO:0001583	missense	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.595C>T	4.37:g.151504776C>T	ENSP00000324701:p.Arg199Trp		B3KP37|Q9HBA7	Missense_Mutation	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.R199W	ENST00000317605.4	37	c.595	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435924	0.43224	.	.	ENSG00000181541	ENST00000317605	T	0.08546	3.08	5.55	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.39898	1.24	0.52501	D	0.999957	D	0.67145	0.996	P	0.56916	0.809	T	0.00097	-1.2072	10	0.48119	T	0.1	-17.4886	16.4552	0.84009	0.4143:0.5856:0.0:0.0	.	199	Q9Y586	MB212_HUMAN	W	199	ENSP00000324701:R199W	ENSP00000324701:R199W	R	+	1	2	MAB21L2	151724226	0.996000	0.38824	0.846000	0.33378	0.771000	0.43674	0.848000	0.27710	0.036000	0.15547	-2.017000	0.00434	CGG	MAB21L2	-	pfam_Mab-21_dom		0.642	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1	C	NM_006439		151504776	1	no_errors	ENST00000317605	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151504776	C	T	151504776	3	4	34	1	0	0	0	0	1	0	0	0	9165	875	31	1	597	1	MAB21L2	4	151504776	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	11129420	151504776	39649500	114	4581										
WWC2	80014	genome.wustl.edu	37	chr4	184169899	184169899	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgcaggagcggtttcatttGgatcagaacattggcagatc	12	8	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:184169899G>C	ENST00000403733.3	+	7	964	c.765G>C	c.(763-765)ttG>ttC	p.L255F	WWC2_ENST00000378925.3_Missense_Mutation_p.L157F|WWC2_ENST00000513834.1_Missense_Mutation_p.L255F|WWC2_ENST00000448232.2_Missense_Mutation_p.L255F|WWC2_ENST00000504005.1_Intron	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	255					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GGTTTCATTTGGATCAGAACA	0.438																																																	0													80	76	77					4																	184169899		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.765G>C	4.37:g.184169899G>C	ENSP00000384222:p.Leu255Phe		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.L255F	ENST00000403733.3	37	c.765	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290658	0.59976	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.12465	3.46;2.68;3.47;3.33	5.65	5.65	0.86999	.	0.110120	0.37809	N	0.001939	T	0.15696	0.0378	L	0.51422	1.61	0.42647	D	0.99343	P	0.46706	0.883	P	0.45971	0.499	T	0.01165	-1.1431	10	0.56958	D	0.05	-6.39	5.7859	0.18333	0.1504:0.0:0.6749:0.1747	.	255	Q6AWC2	WWC2_HUMAN	F	255;157;255;255	ENSP00000384222:L255F;ENSP00000368205:L157F;ENSP00000425054:L255F;ENSP00000398577:L255F	ENSP00000368205:L157F	L	+	3	2	WWC2	184406893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	2.652000	0.90054	0.650000	0.86243	TTG	WWC2	-	NULL		0.438	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	G	NM_024949		184169899	1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184169899	G	C	184169899	3	2	34	1	0	0	0	0	1	0	0	0	17443	1339	47	4	791	4	WWC2	4	184169899	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	32665123	184169899	6984377	115	4582										
PDLIM3	27295	genome.wustl.edu	37	chr4	186425697	186425697	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cctgaaccgccatggactttCgtcaccggagctctcacact	8	16	2	1	rs199895839		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:186425697C>T	ENST00000284770.5	-	7	910	c.837G>A	c.(835-837)acG>acA	p.T279T	PDLIM3_ENST00000284771.6_Silent_p.T231T|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	279					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATGGACTTTCGTCACCGGAG	0.537																																																	0													67	59	62					4																	186425697		2203	4300	6503	SO:0001819	synonymous_variant	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.837G>A	4.37:g.186425697C>T			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.T279	ENST00000284770.5	37	c.837	CCDS3844.1	4																																																																																			PDLIM3	-	NULL		0.537	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	C	NM_014476		186425697	-1	no_errors	ENST00000284770	ensembl	human	known	70_37	silent	SNP	0.925	T	T	186425697	C	T	186425697	2	4	34	1	0	0	0	0	0	0	0	1	11705	871	31	1		1	PDLIM3	4	186425697	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2255798	186425697	4728579	116	4583										
FAT1	2195	genome.wustl.edu	37	chr4	187628227	187628227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggtgggttgtcattaacatCttctagtgatactttcacaa	8	7	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:187628227C>T	ENST00000441802.2	-	2	2964	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	919	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCATTAACATCTTCTAGTGAT	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													218	213	214					4																	187628227		1958	4160	6118	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2755G>A	4.37:g.187628227C>T	ENSP00000406229:p.Asp919Asn			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D919N	ENST00000441802.2	37	c.2755	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866544	0.91511	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.67698	-0.28	4.67	4.67	0.58626	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89148	0.3521	10	0.87932	D	0	.	18.1062	0.89520	0.0:1.0:0.0:0.0	.	919	Q14517	FAT1_HUMAN	N	919	ENSP00000406229:D919N	ENSP00000260147:D919N	D	-	1	0	FAT1	187865221	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	7.609000	0.82925	2.579000	0.87056	0.491000	0.48974	GAT	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	C	NM_005245		187628227	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	1.000	T	T	187628227	C	T	187628227	3	4	34	1	0	0	0	0	1	0	0	0	5707	913	32	1	11115	1	FAT1	4	187628227	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1202530	187628227	3526049	117	4584										
MYO10	4651	genome.wustl.edu	37	chr5	16762719	16762719	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgaggaaaatggctttcttCattgataagggctaggaggc	13	5	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:16762719C>T	ENST00000513610.1	-	15	1976	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	508	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGCTTTCTTCATTGATAAGG	0.418																																																	0													88	78	81					5																	16762719		1948	4157	6105	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1522G>A	5.37:g.16762719C>T	ENSP00000421280:p.Glu508Lys		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.E508K	ENST00000513610.1	37	c.1522	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.631314	0.96682	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.80653	-1.4;-1.4	5.76	5.76	0.90799	Myosin head, motor domain (3);	.	.	.	.	D	0.94013	0.8082	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.95504	0.8580	9	0.87932	D	0	.	19.9695	0.97278	0.0:1.0:0.0:0.0	.	149;508	Q69YP8;Q9HD67	.;MYO10_HUMAN	K	508;519	ENSP00000421280:E508K;ENSP00000421309:E519K	ENSP00000421280:E508K	E	-	1	0	MYO10	16815719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.664000	0.83830	2.736000	0.93811	0.655000	0.94253	GAA	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.418	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16762719	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16762719	C	T	16762719	3	4	34	1	0	0	0	0	1	0	0	0	10085	835	29	1	4762	1	MYO10	5	16762719	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		16762719	164152541	118	4585										
DAB2	1601	genome.wustl.edu	37	chr5	39382903	39382903	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gatttgacagagaagccgttCtgttctctttcagatacccc	8	11	3	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:39382903C>G	ENST00000320816.6	-	10	1625	c.1158G>C	c.(1156-1158)caG>caC	p.Q386H	DAB2_ENST00000509337.1_Missense_Mutation_p.Q365H|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.Q365H	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	386	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGAAGCCGTTCTGTTCTCTTT	0.522																																																	0													98	103	102					5																	39382903		2203	4300	6503	SO:0001583	missense	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1158G>C	5.37:g.39382903C>G	ENSP00000313391:p.Gln386His		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.Q386H	ENST00000320816.6	37	c.1158	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510465	0.27036	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.38560	1.15;1.13;1.13	5.81	3.0	0.34707	.	0.093400	0.47852	N	0.000216	T	0.37183	0.0994	L	0.56769	1.78	0.26580	N	0.973409	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.38067	-0.9678	10	0.66056	D	0.02	-0.0596	8.6026	0.33754	0.0:0.6355:0.2339:0.1306	.	386;365	P98082;P98082-3	DAB2_HUMAN;.	H	386;365;365	ENSP00000313391:Q386H;ENSP00000439919:Q365H;ENSP00000426245:Q365H	ENSP00000313391:Q386H	Q	-	3	2	DAB2	39418660	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.899000	0.28417	0.890000	0.36211	0.609000	0.83330	CAG	DAB2	-	NULL		0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	C	NM_001343		39382903	-1	no_errors	ENST00000320816	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39382903	C	G	39382903	3	3	34	1	0	0	0	0	1	0	0	0	4223	912	32	1	1174	1	DAB2	5	39382903	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	22620184	39382903	141532357	119	4586										
C6	729	genome.wustl.edu	37	chr5	41149429	41149429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaagtcttgtcctttcaagaCcccattctaactggcggccg	8	13	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:41149429C>T	ENST00000263413.3	-	17	2801	c.2537G>A	c.(2536-2538)gGt>gAt	p.G846D	C6_ENST00000337836.5_Missense_Mutation_p.G846D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	846	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTTTCAAGACCCCATTCTAA	0.428																																																	0													169	162	164					5																	41149429		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2537G>A	5.37:g.41149429C>T	ENSP00000263413:p.Gly846Asp			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G846D	ENST00000263413.3	37	c.2537	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353084	0.41700	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60424	0.19;0.19	5.85	4.97	0.65823	.	0.428590	0.26180	N	0.025862	T	0.30854	0.0778	N	0.08118	0	0.34831	D	0.739681	P	0.36465	0.554	B	0.27608	0.081	T	0.46938	-0.9155	10	0.54805	T	0.06	-9.7035	8.1813	0.31313	0.0:0.6319:0.2756:0.0925	.	846	P13671	CO6_HUMAN	D	846	ENSP00000338861:G846D;ENSP00000263413:G846D	ENSP00000263413:G846D	G	-	2	0	C6	41185186	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.316000	0.43761	2.768000	0.95171	0.655000	0.94253	GGT	C6	-	NULL		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	C			41149429	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	0.988	T	T	41149429	C	T	41149429	3	4	34	1	0	0	0	0	1	0	0	0	2320	507	18	4	275	4	C6	5	41149429	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1766526	41149429	139765831	120	4587										
RNF180	285671	genome.wustl.edu	37	chr5	63621060	63621060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaagacaatgaatatgcagaAgaaaaggatagctacatctg	10	5	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:63621060A>G	ENST00000389100.4	+	6	1347	c.1275A>G	c.(1273-1275)gaA>gaG	p.E425E		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	425	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AATATGCAGAAGAAAAGGATA	0.368																																																	0													291	241	256					5																	63621060		692	1591	2283	SO:0001819	synonymous_variant	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1275A>G	5.37:g.63621060A>G			Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E425	ENST00000389100.4	37	c.1275	CCDS47219.1	5																																																																																			RNF180	-	NULL		0.368	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1	A	NM_178532		63621060	1	no_errors	ENST00000389100	ensembl	human	known	70_37	silent	SNP	0.865	G	G	63621060	A	G	63621060	2	3	34	1	0	0	0	0	0	0	0	1	13494	69	3	5		5	RNF180	5	63621060	Silent	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	22471631	63621060	117294200	121	4588										
NLN	57486	genome.wustl.edu	37	chr5	65058915	65058915	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcatgagaggagatatatttGagagaattgttcatttacag	11	3	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:65058915G>C	ENST00000380985.5	+	3	608	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	NLN_ENST00000502464.1_Missense_Mutation_p.E40Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	144						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGATATATTTGAGAGAATTGT	0.343																																																	0													111	109	109					5																	65058915		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.430G>C	5.37:g.65058915G>C	ENSP00000370372:p.Glu144Gln		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E144Q	ENST00000380985.5	37	c.430	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	3.762	-0.049326	0.07407	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.08102	3.13;3.13	5.65	2.89	0.33648	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.591024	0.19173	N	0.120897	T	0.02193	0.0068	N	0.01297	-0.9	0.22489	N	0.999059	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.46400	-0.9194	10	0.02654	T	1	-0.8057	7.7828	0.29074	0.1207:0.6898:0.124:0.0654	.	144;144	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	Q	144;40;144	ENSP00000370372:E144Q;ENSP00000423214:E40Q	ENSP00000339283:E144Q	E	+	1	0	NLN	65094671	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.335000	0.33839	0.408000	0.25621	-0.171000	0.13296	GAG	NLN	-	NULL		0.343	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65058915	1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65058915	G	C	65058915	3	2	34	1	0	0	0	0	1	0	0	0	10491	1291	45	1	440	1	NLN	5	65058915	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1437855	65058915	115856345	122	4589										
AP3B1	8546	genome.wustl.edu	37	chr5	77406134	77406134	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	attcgtcatttgaagaatctGaagttttagatttttcattt	6	4	3	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:77406134G>A	ENST00000255194.6	-	20	2469	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L	AP3B1_ENST00000519295.1_Missense_Mutation_p.S716L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	765	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGAAGAATCTGAAGTTTTAGA	0.328									Hermansky-Pudlak syndrome																																								0													56	54	55					5																	77406134		2199	4296	6495	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2294C>T	5.37:g.77406134G>A	ENSP00000255194:p.Ser765Leu		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.S765L	ENST00000255194.6	37	c.2294	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866484	0.51588	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	D;D	0.97430	-4.38;-4.38	5.68	5.68	0.88126	.	0.569729	0.19359	N	0.116192	D	0.95069	0.8403	L	0.53249	1.67	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	D	0.88476	0.3065	10	0.46703	T	0.11	-5.6243	12.2754	0.54733	0.0798:0.0:0.9202:0.0	.	765	O00203	AP3B1_HUMAN	L	765;716;765	ENSP00000255194:S765L;ENSP00000430597:S716L	ENSP00000255194:S765L	S	-	2	0	AP3B1	77441890	0.895000	0.30542	0.165000	0.22776	0.956000	0.61745	2.989000	0.49393	2.674000	0.91012	0.655000	0.94253	TCA	AP3B1	-	pirsf_AP3_beta		0.328	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	G			77406134	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	0.017	A	A	77406134	G	A	77406134	3	1	34	1	0	0	0	0	1	0	0	0	744	1294	45	1	1022	1	AP3B1	5	77406134	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	12347219	77406134	103509126	123	4590										
GPR98	84059	genome.wustl.edu	37	chr5	89923139	89923139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcattaagaaaaatgatagtCccgtgagattccttcagagt	8	7	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:89923139C>T	ENST00000405460.2	+	7	880	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	262	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAATGATAGTCCCGTGAGATT	0.363																																																	0													84	83	84					5																	89923139		1852	4081	5933	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.784C>T	5.37:g.89923139C>T	ENSP00000384582:p.Pro262Ser		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.P262S	ENST00000405460.2	37	c.784	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876272	0.91664	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30714	1.52	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67082	-0.5760	10	0.72032	D	0.01	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	262	Q8WXG9	GPR98_HUMAN	S	262	ENSP00000384582:P262S	ENSP00000296619:P262S	P	+	1	0	GPR98	89958895	1.000000	0.71417	0.970000	0.41538	0.980000	0.70556	7.526000	0.81920	2.744000	0.94065	0.650000	0.86243	CCC	GPR98	-	NULL		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		89923139	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89923139	C	T	89923139	3	4	34	1	0	0	0	0	1	0	0	0	6741	855	30	1	810	1	GPR98	5	89923139	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	12517005	89923139	90992121	124	4591										
PPIP5K2	23262	genome.wustl.edu	37	chr5	102490381	102490381	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcttttttataagattttttGatctttttgaaaagtgtgat	6	2	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:102490381G>C	ENST00000358359.3	+	12	1734	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.D409H|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D409H	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	409	Polyphosphoinositide-binding domain.				inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGATTTTTTGATCTTTTTGA	0.254																																																	0													64	66	65					5																	102490381		2188	4282	6470	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1225G>C	5.37:g.102490381G>C	ENSP00000351126:p.Asp409His		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.D409H	ENST00000358359.3	37	c.1225		5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121885	0.77436	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.87	4.87	0.63330	.	0.153018	0.44483	D	0.000446	T	0.39462	0.1079	L	0.55990	1.75	0.80722	D	1	B;B;B	0.32051	0.029;0.354;0.221	B;B;B	0.39771	0.128;0.132;0.309	T	0.38845	-0.9642	10	0.66056	D	0.02	.	18.3578	0.90364	0.0:0.0:1.0:0.0	.	331;409;409	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	H	409;331;409;409;409	ENSP00000313070:D409H;ENSP00000422525:D331H;ENSP00000351126:D409H;ENSP00000416016:D409H	ENSP00000313070:D409H	D	+	1	0	PPIP5K2	102518280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.378000	0.81104	0.655000	0.94253	GAT	PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.254	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	G	NM_015216		102490381	1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102490381	G	C	102490381	3	2	34	1	0	0	0	0	1	0	0	0	12360	1290	45	1	1267	1	PPIP5K2	5	102490381	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	12567242	102490381	78424879	125	4592										
P4HA2	8974	genome.wustl.edu	37	chr5	131554244	131554244	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgttggcacgtaccaatagAggtgaagaattcggcctgca	12	9	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:131554244A>T	ENST00000401867.1	-	3	644	c.76T>A	c.(76-78)Tct>Act	p.S26T	P4HA2_ENST00000379086.1_Missense_Mutation_p.S26T|P4HA2_ENST00000379100.2_Missense_Mutation_p.S26T|P4HA2_ENST00000360568.3_Missense_Mutation_p.S26T|P4HA2_ENST00000379104.2_Missense_Mutation_p.S26T|P4HA2_ENST00000166534.4_Missense_Mutation_p.S26T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	26					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTACCAATAGAGGTGAAGAAT	0.532																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													136	98	111					5																	131554244		2203	4300	6503	SO:0001583	missense	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.76T>A	5.37:g.131554244A>T	ENSP00000384999:p.Ser26Thr		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S26T	ENST00000401867.1	37	c.76	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	A	34	5.339507	0.95783	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055;ENST00000416053;ENST00000428841	T;T;T;T;T;T	0.56941	0.44;0.43;0.44;0.43;0.44;0.43	6.17	6.17	0.99709	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.110136	0.64402	D	0.000005	T	0.69940	0.3167	M	0.79258	2.445	0.80722	D	1	P;P	0.43412	0.806;0.768	P;P	0.54401	0.751;0.697	T	0.72972	-0.4129	10	0.87932	D	0	-22.2559	16.4837	0.84171	1.0:0.0:0.0:0.0	.	26;26	O15460;O15460-2	P4HA2_HUMAN;.	T	26;26;26;26;26;26;26;58;26;26;26;26;26;26;26	ENSP00000384999:S26T;ENSP00000368379:S26T;ENSP00000166534:S26T;ENSP00000353772:S26T;ENSP00000368398:S26T;ENSP00000368394:S26T	ENSP00000166534:S26T	S	-	1	0	P4HA2	131582143	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.520000	0.73773	2.371000	0.80710	0.533000	0.62120	TCT	P4HA2	-	pfam_Pro_4_hyd_alph_N		0.532	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	A	NM_004199		131554244	-1	no_errors	ENST00000166534	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131554244	A	T	131554244	3	4	34	1	0	0	0	0	1	0	0	0	11381	304	11	5	1651	5	P4HA2	5	131554244	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	29063863	131554244	49361016	126	4593										
SLC22A4	6583	genome.wustl.edu	37	chr5	131671652	131671652	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggggtcacatccacggcctCcagagtgggcagcatcattg	14	12	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:131671652C>G	ENST00000200652.3	+	8	1577	c.1403C>G	c.(1402-1404)tCc>tGc	p.S468C	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	468					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TCCACGGCCTCCAGAGTGGGC	0.488																																																	0													130	127	128					5																	131671652		2203	4300	6503	SO:0001583	missense	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1403C>G	5.37:g.131671652C>G	ENSP00000200652:p.Ser468Cys		O14546	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.S468C	ENST00000200652.3	37	c.1403	CCDS4153.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104728	0.77096	.	.	ENSG00000197208	ENST00000200652	T	0.75050	-0.9	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.162822	0.56097	D	0.000028	D	0.83275	0.5219	L	0.49455	1.56	0.47905	D	0.99954	D	0.89917	1.0	D	0.80764	0.994	T	0.80446	-0.1379	10	0.33141	T	0.24	.	19.5585	0.95363	0.0:1.0:0.0:0.0	.	468	Q9H015	S22A4_HUMAN	C	468	ENSP00000200652:S468C	ENSP00000200652:S468C	S	+	2	0	SLC22A4	131699551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.588000	0.60999	2.633000	0.89246	0.637000	0.83480	TCC	SLC22A4	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.488	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	C	NM_003059		131671652	1	no_errors	ENST00000200652	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131671652	C	G	131671652	3	3	34	1	0	0	0	0	1	0	0	0	14486	855	30	1	1433	1	SLC22A4	5	131671652	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	117408	131671652	49243608	127	4594										
SEC24A	10802	genome.wustl.edu	37	chr5	134059323	134059323	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctttcatctcttggcttagaGagcagagaccatttttccca	7	11	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:134059323G>A	ENST00000398844.2	+	22	3418	c.3130G>A	c.(3130-3132)Gag>Aag	p.E1044K		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1044					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCTTAGAGAGCAGAGACC	0.368																																																	0													173	160	164					5																	134059323		1840	4083	5923	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3130G>A	5.37:g.134059323G>A	ENSP00000381823:p.Glu1044Lys		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.E1044K	ENST00000398844.2	37	c.3130	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116113	0.56505	.	.	ENSG00000113615	ENST00000398844	T	0.31510	1.49	6.03	4.24	0.50183	.	0.264459	0.42420	N	0.000718	T	0.30417	0.0764	M	0.66439	2.03	0.80722	D	1	B;B	0.17038	0.019;0.02	B;B	0.14578	0.007;0.011	T	0.07102	-1.0790	10	0.18276	T	0.48	-1.671	11.8708	0.52519	0.0655:0.1232:0.8113:0.0	.	808;1044	B4E205;O95486	.;SC24A_HUMAN	K	1044	ENSP00000381823:E1044K	ENSP00000381823:E1044K	E	+	1	0	SEC24A	134087222	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	6.966000	0.76073	0.871000	0.35750	0.655000	0.94253	GAG	SEC24A	-	NULL		0.368	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	G			134059323	1	no_errors	ENST00000398844	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134059323	G	A	134059323	3	1	34	1	0	0	0	0	1	0	0	0	14024	943	33	1	3216	1	SEC24A	5	134059323	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2387671	134059323	46855937	128	4595										
SLC4A9	83697	genome.wustl.edu	37	chr5	139745485	139745485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccggcagggaggccaccctCgtggccctggctgtcataca	13	16	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:139745485C>T	ENST00000230993.6	+	13	1884	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R617C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R593C|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R579C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	617	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCACCCTCGTGGCCCTGG	0.547																																																	0													174	182	179					5																	139745485		2047	4180	6227	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1849C>T	5.37:g.139745485C>T	ENSP00000230993:p.Arg617Cys		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R617C	ENST00000230993.6	37	c.1849	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613781	0.46631	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000507527	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.4	4.4	0.53042	Bicarbonate transporter, C-terminal (1);	0.384653	0.25081	N	0.033300	T	0.82107	0.4965	L	0.47716	1.5	0.38615	D	0.950998	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.62885	0.908;0.795;0.795	D	0.83545	0.0098	10	0.54805	T	0.06	.	13.5596	0.61782	0.0:0.7279:0.2721:0.0	.	617;579;593	Q96Q91;Q96Q91-2;Q96Q91-3	B3A4_HUMAN;.;.	C	617;593;579;617	ENSP00000230993:R617C;ENSP00000424424:R593C;ENSP00000410056:R579C;ENSP00000427661:R617C	ENSP00000230993:R617C	R	+	1	0	SLC4A9	139725669	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	2.065000	0.41442	2.735000	0.93741	0.561000	0.74099	CGT	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	C	NM_031467		139745485	1	no_errors	ENST00000230993	ensembl	human	known	70_37	missense	SNP	0.970	T	T	139745485	C	T	139745485	3	4	34	1	0	0	0	0	1	0	0	0	14690	884	31	1	1827	1	SLC4A9	5	139745485	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5686162	139745485	41169775	129	4596										
PCDHB14	56122	genome.wustl.edu	37	chr5	140604874	140604874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	14	14	0	1	rs200070769		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:140604874C>T	ENST00000239449.4	+	1	1797	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N	PCDHB14_ENST00000515856.2_Silent_p.N446N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.726																																					Ovarian(141;50 1831 27899 33809 37648)												0													4	6	5					5																	140604874		1206	2708	3914	SO:0001819	synonymous_variant	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1797C>T	5.37:g.140604874C>T			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N599	ENST00000239449.4	37	c.1797	CCDS4256.1	5																																																																																			PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.726	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140604874	1	no_errors	ENST00000239449	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140604874	C	T	140604874	2	4	34	1	0	0	0	0	0	0	0	1	11563	535	19	2		2	PCDHB14	5	140604874	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	859389	140604874	40310386	130	4597										
PCDHGB4	8641	genome.wustl.edu	37	chr5	140768001	140768001	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atttctcactgataaataaaGagaaatcagatggcagtaaa	7	5	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:140768001G>C	ENST00000519479.1	+	1	550	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAATAAAGAGAAATCAGA	0.408																																																	0													63	63	63					5																	140768001		1917	4129	6046	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.550G>C	5.37:g.140768001G>C	ENSP00000428288:p.Glu184Gln		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E184Q	ENST00000519479.1	37	c.550	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	4.764	0.142009	0.09083	.	.	ENSG00000253953	ENST00000519479	T	0.54071	0.59	4.99	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42154	0.1190	L	0.45422	1.42	0.09310	N	1	B;B	0.19583	0.009;0.037	B;B	0.29267	0.06;0.1	T	0.33163	-0.9879	9	0.28530	T	0.3	.	3.7548	0.08581	0.2887:0.0:0.5407:0.1707	.	184;184	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Q	184	ENSP00000428288:E184Q	ENSP00000428288:E184Q	E	+	1	0	PCDHGB4	140748185	0.017000	0.18338	0.696000	0.30242	0.332000	0.28634	2.073000	0.41519	1.225000	0.43566	0.655000	0.94253	GAG	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	G	NM_003736		140768001	1	no_errors	ENST00000519479	ensembl	human	known	70_37	missense	SNP	0.003	C	C	140768001	G	C	140768001	3	2	34	1	0	0	0	0	1	0	0	0	11589	943	33	1	552	1	PCDHGB4	5	140768001	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	163127	140768001	40147259	131	4598										
SYNPO	11346	genome.wustl.edu	37	chr5	150029188	150029188	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cggcggaggaggtggtaccaGagtgggcctcctgcctcaag	17	11	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:150029188G>A	ENST00000394243.1	+	3	2457	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	SYNPO_ENST00000519664.1_Missense_Mutation_p.E451K|SYNPO_ENST00000522122.1_Missense_Mutation_p.E695K|SYNPO_ENST00000307662.4_Missense_Mutation_p.E451K	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	695					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGTACCAGAGTGGGCCTC	0.677																																																	0													26	28	28					5																	150029188		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2083G>A	5.37:g.150029188G>A	ENSP00000377789:p.Glu695Lys		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.E695K	ENST00000394243.1	37	c.2083	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307610	0.60305	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000062	D	0.84151	0.5409	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.957	T	0.79465	-0.1792	10	0.13108	T	0.6	-20.2747	18.2431	0.89974	0.0:0.0:1.0:0.0	.	451;695	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	K	695;695;451;451	ENSP00000377789:E695K;ENSP00000428378:E695K;ENSP00000302139:E451K;ENSP00000429268:E451K	ENSP00000302139:E451K	E	+	1	0	SYNPO	150009381	1.000000	0.71417	0.965000	0.40720	0.336000	0.28762	9.269000	0.95684	2.399000	0.81585	0.462000	0.41574	GAG	SYNPO	-	NULL		0.677	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	G	NM_007286		150029188	1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150029188	G	A	150029188	3	1	34	1	0	0	0	0	1	0	0	0	15486	943	33	1	2089	1	SYNPO	5	150029188	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	9261187	150029188	30886072	132	4599										
LARP1	23367	genome.wustl.edu	37	chr5	154179283	154179283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccagcttctcaactgccctGaatttgttccccgtcagcac	6	17	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:154179283G>A	ENST00000336314.4	+	9	1303	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	504	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAACTGCCCTGAATTTGTTCC	0.517																																																	0													160	157	158					5																	154179283		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1279G>A	5.37:g.154179283G>A	ENSP00000336721:p.Glu427Lys		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.E427K	ENST00000336314.4	37	c.1279	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.813253	0.96975	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.51325	1.7;1.21;1.26;0.71;0.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.66858	-0.5817	10	0.37606	T	0.19	-24.1627	20.8794	0.99867	0.0:0.0:1.0:0.0	.	504;427	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	K	427;504;299;212;111	ENSP00000336721:E427K;ENSP00000428589:E504K;ENSP00000429904:E299K;ENSP00000430438:E212K;ENSP00000431072:E111K	ENSP00000336721:E427K	E	+	1	0	LARP1	154159476	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GAA	LARP1	-	NULL		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154179283	1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154179283	G	A	154179283	3	1	34	1	0	0	0	0	1	0	0	0	8648	1291	45	1	1313	1	LARP1	5	154179283	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4150095	154179283	26735977	133	4600										
SLIT3	6586	genome.wustl.edu	37	chr5	168199788	168199788	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gccccgtaacctgattacctGagcagcggaacttcttgctc	9	14	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:168199788G>C	ENST00000519560.1	-	14	1876	c.1457C>G	c.(1456-1458)tCa>tGa	p.S486*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.S486*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.S486*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	486	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGATTACCTGAGCAGCGGAA	0.597																																					Ovarian(29;311 847 10864 17279 24903)												0													46	45	45					5																	168199788		2203	4300	6503	SO:0001587	stop_gained	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1457C>G	5.37:g.168199788G>C	ENSP00000430333:p.Ser486*		A6H8U9|J3KNP3|O95804|Q9UFH5	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S486*	ENST00000519560.1	37	c.1457	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.568636	0.98365	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.49	5.49	0.81192	.	0.124366	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	.	.	.	X	486	.	ENSP00000332164:S486X	S	-	2	0	SLIT3	168132366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.860000	0.99555	2.566000	0.86566	0.561000	0.74099	TCA	SLIT3	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	G	NM_003062		168199788	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	168199788	G	C	168199788	4	2	34	1	0	0	0	0	0	1	0	0	14771	1294	45	1	3206	1	SLIT3	5	168199788	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	14020505	168199788	12715472	134	4601										
NSD1	64324	genome.wustl.edu	37	chr5	176637093	176637093	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcacagggtccaacactgccCcaggaagttttctgttttct	8	12	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:176637093C>G	ENST00000439151.2	+	5	1738	c.1693C>G	c.(1693-1695)Cca>Gca	p.P565A	NSD1_ENST00000354179.4_Missense_Mutation_p.P296A|NSD1_ENST00000347982.4_Missense_Mutation_p.P296A|NSD1_ENST00000361032.4_Missense_Mutation_p.P462A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	565					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAACACTGCCCCAGGAAGTTT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													54	62	59					5																	176637093		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1693C>G	5.37:g.176637093C>G	ENSP00000395929:p.Pro565Ala		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P565A	ENST00000439151.2	37	c.1693	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	2.002	-0.429255	0.04701	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92495	-2.94;-2.95;-2.94;-3.05	5.33	3.43	0.39272	.	0.200057	0.35179	N	0.003393	T	0.81019	0.4736	N	0.19112	0.55	0.09310	N	1	B;P;B	0.42871	0.4;0.792;0.278	B;B;B	0.35039	0.121;0.194;0.057	T	0.72609	-0.4241	9	.	.	.	.	7.4748	0.27369	0.2462:0.4928:0.261:0.0	.	296;462;565	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	296;296;565;296;462	ENSP00000346111:P296A;ENSP00000395929:P565A;ENSP00000343209:P296A;ENSP00000354310:P462A	.	P	+	1	0	NSD1	176569699	0.079000	0.21365	0.223000	0.23860	0.044000	0.14063	0.812000	0.27211	2.648000	0.89879	0.591000	0.81541	CCA	NSD1	-	NULL		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176637093	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.004	G	G	176637093	C	G	176637093	3	3	34	1	0	0	0	0	1	0	0	0	10693	623	22	4	1707	4	NSD1	5	176637093	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	8437305	176637093	4278167	135	4602										
NSD1	64324	genome.wustl.edu	37	chr5	176662835	176662835	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cttttagctgtgcggtcagaGaagaaacgccttaggaagcc	12	9	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:176662835G>A	ENST00000439151.2	+	6	3855	c.3810G>A	c.(3808-3810)gaG>gaA	p.E1270E	NSD1_ENST00000354179.4_Silent_p.E1001E|NSD1_ENST00000347982.4_Silent_p.E1001E|NSD1_ENST00000361032.4_Silent_p.E1167E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1270					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1270D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCGGTCAGAGAAGAAACGCC	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	large_intestine(2)											57	60	59					5																	176662835		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3810G>A	5.37:g.176662835G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1270	ENST00000439151.2	37	c.3810	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176662835	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	1.000	A	A	176662835	G	A	176662835	2	1	34	1	0	0	0	0	0	0	0	1	10693	933	33	1		1	NSD1	5	176662835	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	25742	176662835	4252425	136	4603										
DDX41	51428	genome.wustl.edu	37	chr5	176942215	176942215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gatgccctggatctgaatggGtgttgggtggtgaatgcctt	16	6	1	2	rs373575560		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:176942215G>T	ENST00000507955.1	-	7	1139	c.616C>A	c.(616-618)Ccc>Acc	p.P206T	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	206					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ATCTGAATGGGTGTTGGGTGG	0.547																																																	0													284	235	252					5																	176942215		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.616C>A	5.37:g.176942215G>T	ENSP00000422753:p.Pro206Thr		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P206T	ENST00000507955.1	37	c.616	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968129	0.92855	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.52526	0.66;0.66	5.53	5.53	0.82687	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.058996	0.64402	D	0.000002	T	0.69860	0.3158	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.72374	-0.4313	10	0.87932	D	0	-24.7133	19.4714	0.94965	0.0:0.0:1.0:0.0	.	206	Q9UJV9	DDX41_HUMAN	T	224;206	ENSP00000330349:P224T;ENSP00000422753:P206T	ENSP00000330349:P224T	P	-	1	0	DDX41	176874821	1.000000	0.71417	0.959000	0.39883	0.915000	0.54546	9.497000	0.97970	2.596000	0.87737	0.563000	0.77884	CCC	DDX41	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.547	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	G	NM_016222		176942215	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176942215	G	T	176942215	3	4	34	1	0	0	0	0	1	0	0	0	4366	1261	44	4	1296	4	DDX41	5	176942215	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	279380	176942215	3973045	137	4604										
TBC1D9B	23061	genome.wustl.edu	37	chr5	179290680	179290680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cctccccgcccaccagcaccGtgtcgtctgcaaggtcttca	8	19	3	0	rs566315520		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:179290680G>A	ENST00000356834.3	-	22	3558	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.T315M|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T1157M|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.T333M	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1174						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCAGCACCGTGTCGTCTGC	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		20092	0		0	False		,,,				2504	0																0													61	56	58					5																	179290680		2203	4300	6503	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3521C>T	5.37:g.179290680G>A	ENSP00000349291:p.Thr1174Met		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.T1174M	ENST00000356834.3	37	c.3521	CCDS43408.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.62|19.62	3.862103|3.862103	0.71949|0.71949	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000524222|ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	.|T;T;T;T	.|0.50001	.|2.63;2.66;0.76;1.01	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.261910	.|0.37012	.|N	.|0.002286	T|T	0.69575|0.69575	0.3126|0.3126	M|M	0.70275|0.70275	2.135|2.135	0.48452|0.48452	D|D	0.99965|0.99965	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.983;0.988;0.973;0.991;0.999	T|T	0.72554|0.72554	-0.4258|-0.4258	5|10	.|0.66056	.|D	.|0.02	-10.5416|-10.5416	18.8514|18.8514	0.92232|0.92232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1157;1174;373;248	.|A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.|.;.;TBC9B_HUMAN;.;.	W|M	217|1174;1157;333;315;248	.|ENSP00000349291:T1174M;ENSP00000347375:T1157M;ENSP00000430293:T333M;ENSP00000401585:T315M	.|ENSP00000347375:T1157M	R|T	-|-	1|2	2|0	TBC1D9B|TBC1D9B	179223286|179223286	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.640000|0.640000	0.38277|0.38277	7.541000|7.541000	0.82084|0.82084	2.433000|2.433000	0.82419|0.82419	0.561000|0.561000	0.74099|0.74099	CGG|ACG	TBC1D9B	-	NULL		0.622	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	G	NM_015043		179290680	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	missense	SNP	0.997	A	A	179290680	G	A	179290680	3	1	34	1	0	0	0	0	1	0	0	0	15658	1145	40	2	235	2	TBC1D9B	5	179290680	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2348465	179290680	1624580	138	4605										
HUS1B	135458	genome.wustl.edu	37	chr6	656450	656450	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcctctccacgatgctcctCagcgtcctccagcgcggcag	9	18	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:656450C>T	ENST00000380907.2	-	1	513	c.495G>A	c.(493-495)ctG>ctA	p.L165L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	165					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CGATGCTCCTCAGCGTCCTCC	0.667																																																	0													82	88	86					6																	656450		2202	4295	6497	SO:0001819	synonymous_variant	135458			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.495G>A	6.37:g.656450C>T			Q5T4Z2	Silent	SNP	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	p.L165	ENST00000380907.2	37	c.495	CCDS4470.1	6																																																																																			HUS1B	-	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1		0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	HGNC	protein_coding	OTTHUMT00000205617.2	C	NM_148959		656450	-1	no_errors	ENST00000380907	ensembl	human	known	70_37	silent	SNP	0.557	T	T	656450	C	T	656450	2	4	34	1	0	0	0	0	0	0	0	1	7480	813	29	1		1	HUS1B	6	656450	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		656450	170458617	139	4606										
JARID2	3720	genome.wustl.edu	37	chr6	15497208	15497208	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cgcgctcaggtggagaagttCgggatgtgcagggtgatccc	17	9	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:15497208C>T	ENST00000341776.2	+	7	1996	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	JARID2_ENST00000541660.1_Silent_p.F546F|JARID2_ENST00000397311.3_Silent_p.F412F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	584	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGAGAAGTTCGGGATGTGCA	0.627																																																	0													63	56	58					6																	15497208		2203	4300	6503	SO:0001819	synonymous_variant	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1752C>T	6.37:g.15497208C>T			A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.F584	ENST00000341776.2	37	c.1752	CCDS4533.1	6																																																																																			JARID2	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.627	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	C	NM_004973		15497208	1	no_errors	ENST00000341776	ensembl	human	known	70_37	silent	SNP	0.972	T	T	15497208	C	T	15497208	2	4	34	1	0	0	0	0	0	0	0	1	7965	883	31	1		1	JARID2	6	15497208	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	14840758	15497208	155617859	140	4607										
HIST1H3D	8351	genome.wustl.edu	37	chr6	26197326	26197326	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gacttctggtagcggcggatCtcgcgcagagccaccgtgcc	14	14	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:26197326C>T	ENST00000356476.2	-	1	152	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Silent_p.E51E			P68431	H31_HUMAN	histone cluster 1, H3d	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGCGGCGGATCTCGCGCAGAG	0.632																																					GBM(108;3816 4467)												0													48	52	51					6																	26197326		2203	4300	6503	SO:0001819	synonymous_variant	8351			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.153G>A	6.37:g.26197326C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E51	ENST00000356476.2	37	c.153	CCDS4590.1	6																																																																																			HIST1H3D	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.632	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	HGNC	protein_coding	OTTHUMT00000040096.1	C	NM_003530		26197326	-1	no_errors	ENST00000356476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26197326	C	T	26197326	2	4	34	1	0	0	0	0	0	0	0	1	7178	912	32	1		1	HIST1H3D	6	26197326	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10700118	26197326	144917741	141	4608										
PRSS16	10279	genome.wustl.edu	37	chr6	27218887	27218887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggccgtgctggatttctccGagtataatgacgtaaggatg	14	7	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:27218887G>A	ENST00000230582.3	+	6	673	c.658G>A	c.(658-660)Gag>Aag	p.E220K	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	220					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGATTTCTCCGAGTATAATGA	0.657																																					NSCLC(178;1118 2105 17078 23587 44429)												0													61	71	68					6																	27218887		2203	4299	6502	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.658G>A	6.37:g.27218887G>A	ENSP00000230582:p.Glu220Lys		O75416	Missense_Mutation	SNP	pfam_Peptidase_S28	p.E220K	ENST00000230582.3	37	c.658	CCDS4623.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214774|3.214774	0.58452|0.58452	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.18960|.	2.18|.	4.46|4.46	3.57|3.57	0.40892|0.40892	.|.	0.587759|.	0.17955|.	N|.	0.156371|.	T|T	0.42223|0.42223	0.1193|0.1193	M|M	0.73962|0.73962	2.25|2.25	0.28099|0.28099	N|N	0.931491|0.931491	B;B|.	0.27416|.	0.178;0.024|.	B;B|.	0.23275|.	0.045;0.011|.	T|T	0.30937|0.30937	-0.9961|-0.9961	10|5	0.22706|.	T|.	0.39|.	-9.5459|-9.5459	10.9602|10.9602	0.47381|0.47381	0.0:0.1908:0.8091:0.0|0.0:0.1908:0.8091:0.0	.|.	220;220|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	K|Q	220|111	ENSP00000230582:E220K|.	ENSP00000230582:E220K|.	E|R	+|+	1|2	0|0	PRSS16|PRSS16	27326866|27326866	0.100000|0.100000	0.21855|0.21855	0.544000|0.544000	0.28141|0.28141	0.916000|0.916000	0.54674|0.54674	1.910000|1.910000	0.39927|0.39927	1.162000|1.162000	0.42619|0.42619	0.514000|0.514000	0.50259|0.50259	GAG|CGA	PRSS16	-	pfam_Peptidase_S28		0.657	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	HGNC	protein_coding	OTTHUMT00000043418.2	G			27218887	1	no_errors	ENST00000230582	ensembl	human	known	70_37	missense	SNP	0.729	A	A	27218887	G	A	27218887	3	1	34	1	0	0	0	0	1	0	0	0	12643	1059	37	1	680	1	PRSS16	6	27218887	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1021561	27218887	143896180	142	4609										
HIST1H4K	8362	genome.wustl.edu	37	chr6	27798995	27798995	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgttgatagaaagggacgctCaaccaccgaaaccgtagagg	12	9	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:27798995C>A	ENST00000357549.2	-	1	310	c.311G>T	c.(310-312)tGa>tTa	p.*104L		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGGACGCTCAACCACCGAA	0.552																																																	0													37	40	39					6																	27798995		2203	4300	6503	SO:0001578	stop_lost	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.311G>T	6.37:g.27798995C>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104L	ENST00000357549.2	37	c.311	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	2.735	-0.263582	0.05754	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.26	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7158	0.77667	0.0:0.3071:0.0:0.6929	.	.	.	.	L	104	.	.	X	-	2	2	HIST1H4K	27906974	0.850000	0.29656	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-2.164000	0.00782	-1.851000	0.00568	TGA	HIST1H4K	-	NULL		0.552	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	C	NM_003541		27798995	-1	no_errors	ENST00000357549	ensembl	human	known	70_37	nonstop	SNP	0.004	A	A	27798995	C	A	27798995	4	1	34	1	0	0	0	0	0	0	0	0	7195	837	29	3	4	3	HIST1H4K	6	27798995	Nonstop_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	580108	27798995	143316072	143	4610										
ZNF192	7745	genome.wustl.edu	37	chr6	28121307	28121307	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agtgtgggaaggctttcagtCagagtgcgggccttattctg	15	7	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:28121307C>T	ENST00000330236.6	+	6	1433	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.Q417*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	417					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCTTTCAGTCAGAGTGCGGG	0.498																																																	0													81	86	84					6																	28121307		2203	4300	6503	SO:0001587	stop_gained	7745				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1249C>T	6.37:g.28121307C>T	ENSP00000332750:p.Gln417*		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q417*	ENST00000330236.6	37	c.1249	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.112227	0.97296	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	5.99	5.12	0.69794	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.5986	0.62004	0.0:0.9246:0.0:0.0754	.	.	.	.	X	417	.	ENSP00000332750:Q417X	Q	+	1	0	ZNF192	28229286	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.884000	0.04166	2.853000	0.98044	0.655000	0.94253	CAG	ZNF192	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	C			28121307	1	no_errors	ENST00000330236	ensembl	human	known	70_37	nonsense	SNP	0.956	T	T	28121307	C	T	28121307	4	4	34	1	0	0	0	0	0	1	0	0	17786	827	29	1	1267	1	ZNF192	6	28121307	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	322312	28121307	142993760	144	4611										
PBX2	5089	genome.wustl.edu	37	chr6	32154666	32154666	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagatcctgagagattgaaaGagccgccagagccttgtggg	14	9	0	6			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:32154666G>C	ENST00000375050.4	-	7	1307	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C	AGER_ENST00000375076.4_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375055.2_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375067.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	346					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAGATTGAAAGAGCCGCCAGA	0.532																																																	0													48	50	49					6																	32154666		2203	4300	6503	SO:0001583	missense	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1037C>G	6.37:g.32154666G>C	ENSP00000364190:p.Ser346Cys		A2BFJ2	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S346C	ENST00000375050.4	37	c.1037	CCDS4748.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372300	0.82573	.	.	ENSG00000204304	ENST00000375050	D	0.89343	-2.5	4.99	4.99	0.66335	.	0.000000	0.49916	D	0.000124	D	0.93216	0.7839	M	0.77103	2.36	0.52099	D	0.999949	D	0.89917	1.0	D	0.70935	0.971	D	0.93686	0.7003	10	0.72032	D	0.01	-14.0141	15.8213	0.78648	0.0:0.0:1.0:0.0	.	346	P40425	PBX2_HUMAN	C	346	ENSP00000364190:S346C	ENSP00000364190:S346C	S	-	2	0	PBX2	32262644	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.150000	0.77403	2.606000	0.88127	0.561000	0.74099	TCT	PBX2	-	NULL		0.532	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX2	HGNC	protein_coding	OTTHUMT00000076194.4	G			32154666	-1	no_errors	ENST00000375050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32154666	G	C	32154666	3	2	34	1	0	0	0	0	1	0	0	0	11517	942	33	1	267	1	PBX2	6	32154666	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4033359	32154666	138960401	145	4612										
KCNK16	83795	genome.wustl.edu	37	chr6	39282978	39282978	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agaggcaaaggccaaaatttCcaggccccgggatggagtgg	15	9	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:39282978C>G	ENST00000373229.5	-	6	816				KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Missense_Mutation_p.W297C|KCNK16_ENST00000373227.4_Intron|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCAAAATTTCCAGGCCCCGG	0.577																																																	0													67	70	69					6																	39282978		692	1591	2283	SO:0001627	intron_variant	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.803-73G>C	6.37:g.39282978C>G			B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.W297C	ENST00000373229.5	37	c.891	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535661	0.27475	.	.	ENSG00000095981	ENST00000425054	T	0.19105	2.17	2.85	-4.22	0.03800	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	8	0.87932	D	0	.	6.6491	0.22951	0.0:0.2345:0.5391:0.2265	.	297	Q96T55-4	.	C	297	ENSP00000391498:W297C	ENSP00000391498:W297C	W	-	3	0	KCNK16	39390956	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.154000	0.10130	-1.107000	0.03004	0.467000	0.42956	TGG	KCNK16	-	NULL		0.577	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	C	NM_032115		39282978	-1	no_errors	ENST00000425054	ensembl	human	known	70_37	missense	SNP	0.000	G	G	39282978	C	G	39282978	1	3	34	0	1	0	0	0	0	0	0	0	8083	856	30	1		1	KCNK16	6	39282978	Intron	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7128312	39282978	131832089	146	4613										
USP49	25862	genome.wustl.edu	37	chr6	41771556	41771556	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcactcactgttacactggtCacaagcgtagattctccctt	7	13	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:41771556C>G	ENST00000394253.3	-	4	1878	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	USP49_ENST00000373009.3_Missense_Mutation_p.D517H|USP49_ENST00000373010.1_Missense_Mutation_p.D517H|USP49_ENST00000297229.2_Missense_Mutation_p.D517H|USP49_ENST00000373006.1_Missense_Mutation_p.D517H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	517	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTACACTGGTCACAAGCGTAG	0.478																																																	0													128	121	123					6																	41771556		2203	4300	6503	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1549G>C	6.37:g.41771556C>G	ENSP00000377797:p.Asp517His		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.D517H	ENST00000394253.3	37	c.1549		6	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130735	0.56828	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.75477	4.0;4.0;4.0;-0.94;-0.94	5.51	5.51	0.81932	.	0.047582	0.85682	D	0.000000	T	0.82263	0.4999	M	0.62088	1.915	0.50632	D	0.999883	D	0.89917	1.0	D	0.76575	0.988	T	0.79683	-0.1701	10	0.40728	T	0.16	-21.943	19.3778	0.94518	0.0:1.0:0.0:0.0	.	517	Q70CQ1-2	.	H	517	ENSP00000377797:D517H;ENSP00000362101:D517H;ENSP00000362100:D517H;ENSP00000362097:D517H;ENSP00000297229:D517H	ENSP00000297229:D517H	D	-	1	0	USP49	41879534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.912000	0.63335	2.747000	0.94245	0.650000	0.86243	GAC	USP49	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.478	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	USP49	HGNC	protein_coding	OTTHUMT00000316513.3	C	NM_018561		41771556	-1	no_errors	ENST00000373009	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41771556	C	G	41771556	3	3	34	1	0	0	0	0	1	0	0	0	17111	826	29	1	385	1	USP49	6	41771556	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2488578	41771556	129343511	147	4614										
GNMT	27232	genome.wustl.edu	37	chr6	42930548	42930548	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggacaaagatgtgccccagtCagcagagggtggctttgatg	15	8	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:42930548C>T	ENST00000372808.3	+	3	393	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	128					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	GTGCCCCAGTCAGCAGAGGGT	0.542																																																	0													225	209	215					6																	42930548		2203	4300	6503	SO:0001583	missense	27232			AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.383C>T	6.37:g.42930548C>T	ENSP00000361894:p.Ser128Leu		Q5T8W2|Q9NNZ1|Q9NS24	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase	p.S128L	ENST00000372808.3	37	c.383	CCDS4876.1	6	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141089	0.21205	.	.	ENSG00000124713	ENST00000372808	T	0.62232	0.04	5.56	4.68	0.58851	.	0.600408	0.15000	N	0.286177	T	0.09642	0.0237	N	0.00360	-1.595	0.28797	N	0.89899	B	0.02656	0.0	B	0.01281	0.0	T	0.25047	-1.0143	10	0.15066	T	0.55	0.0041	10.8252	0.46627	0.0:0.9112:0.0:0.0888	.	128	Q14749	GNMT_HUMAN	L	128	ENSP00000361894:S128L	ENSP00000361894:S128L	S	+	2	0	GNMT	43038526	0.883000	0.30277	0.080000	0.20451	0.904000	0.53231	4.405000	0.59741	1.310000	0.45006	0.561000	0.74099	TCA	GNMT	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase		0.542	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNMT	HGNC	protein_coding	OTTHUMT00000040568.1	C	NM_018960		42930548	1	no_errors	ENST00000372808	ensembl	human	known	70_37	missense	SNP	0.992	T	T	42930548	C	T	42930548	3	4	34	1	0	0	0	0	1	0	0	0	6559	838	29	1	393	1	GNMT	6	42930548	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1158992	42930548	128184519	148	4615										
TTBK1	84630	genome.wustl.edu	37	chr6	43251427	43251427	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcgcccctggagaacggcctCgccctgtcagggctgaatgg	15	14	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:43251427C>T	ENST00000259750.4	+	14	3032	c.2949C>T	c.(2947-2949)ctC>ctT	p.L983L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	983					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGAACGGCCTCGCCCTGTCAG	0.682																																																	0													19	24	23					6																	43251427		2200	4296	6496	SO:0001819	synonymous_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2949C>T	6.37:g.43251427C>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L983	ENST00000259750.4	37	c.2949	CCDS34455.1	6																																																																																			TTBK1	-	NULL		0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43251427	1	no_errors	ENST00000259750	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43251427	C	T	43251427	2	4	34	1	0	0	0	0	0	0	0	1	16707	871	31	1		1	TTBK1	6	43251427	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	320879	43251427	127863640	149	4616										
TTBK1	84630	genome.wustl.edu	37	chr6	43251852	43251852	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccgtgcctctgagaccctctCaggcacgggctctgaggagg	14	14	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:43251852C>T	ENST00000259750.4	+	14	3457	c.3374C>T	c.(3373-3375)tCa>tTa	p.S1125L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1125					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGACCCTCTCAGGCACGGGC	0.711																																																	0													3	4	3					6																	43251852		1892	3794	5686	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3374C>T	6.37:g.43251852C>T	ENSP00000259750:p.Ser1125Leu		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.S1125L	ENST00000259750.4	37	c.3374	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911520	0.92178	.	.	ENSG00000146216	ENST00000259750	T	0.61627	0.09	5.29	5.29	0.74685	.	0.212570	0.31102	N	0.008251	T	0.68384	0.2995	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.71441	-0.4592	10	0.72032	D	0.01	.	17.7038	0.88303	0.0:1.0:0.0:0.0	.	1125	Q5TCY1	TTBK1_HUMAN	L	1125	ENSP00000259750:S1125L	ENSP00000259750:S1125L	S	+	2	0	TTBK1	43359830	1.000000	0.71417	0.829000	0.32907	0.973000	0.67179	7.167000	0.77562	2.484000	0.83849	0.555000	0.69702	TCA	TTBK1	-	NULL		0.711	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43251852	1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	0.995	T	T	43251852	C	T	43251852	3	4	34	1	0	0	0	0	1	0	0	0	16707	838	29	1	3424	1	TTBK1	6	43251852	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	425	43251852	127863215	150	4617										
TFAP2B	7021	genome.wustl.edu	37	chr6	50803853	50803853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcatgtctgtcaacaccggCgaggtgttttgctccgtccc	12	13	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:50803853C>T	ENST00000393655.3	+	4	850	c.681C>T	c.(679-681)ggC>ggT	p.G227G	TFAP2B_ENST00000263046.4_Silent_p.G236G	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	227					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCAACACCGGCGAGGTGTTTT	0.498																																					Pancreas(116;1373 2332 5475 10752)												0													105	107	106					6																	50803853		2203	4300	6503	SO:0001819	synonymous_variant	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.681C>T	6.37:g.50803853C>T			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.G236	ENST00000393655.3	37	c.708	CCDS4934.2	6																																																																																			TFAP2B	-	prints_TF_AP2_beta		0.498	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	C	NM_003221		50803853	1	no_errors	ENST00000263046	ensembl	human	known	70_37	silent	SNP	0.999	T	T	50803853	C	T	50803853	2	4	34	1	0	0	0	0	0	0	0	1	15818	755	27	2		2	TFAP2B	6	50803853	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7552001	50803853	120311214	151	4618										
DST	667	genome.wustl.edu	37	chr6	56458793	56458793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cttttctaattcttcctgcaGagagtgagttaacttcattt	6	8	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:56458793G>A	ENST00000361203.3	-	44	11768	c.11761C>T	c.(11761-11763)Ctg>Ttg	p.L3921L	DST_ENST00000244364.6_Silent_p.L1509L|DST_ENST00000446842.2_Silent_p.L3597L|DST_ENST00000312431.6_Silent_p.L3921L|DST_ENST00000421834.2_Silent_p.L1835L|DST_ENST00000370754.5_Silent_p.L4101L|DST_ENST00000370788.2_Silent_p.L1835L|DST_ENST00000370769.4_Silent_p.L3923L			Q03001	DYST_HUMAN	dystonin	3921					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCTGCAGAGAGTGAGTT	0.413																																																	0													81	73	75					6																	56458793		1902	4122	6024	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11761C>T	6.37:g.56458793G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L4101	ENST00000361203.3	37	c.12301		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56458793	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	0.996	A	A	56458793	G	A	56458793	2	1	34	1	0	0	0	0	0	0	0	1	4793	933	33	1		1	DST	6	56458793	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5654940	56458793	114656274	152	4619										
BAI3	577	genome.wustl.edu	37	chr6	69758162	69758162	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cggaagggaatggttgactgGgcaagaaactcagaagatag	15	5	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:69758162G>A	ENST00000370598.1	+	14	3014	c.2193G>A	c.(2191-2193)tgG>tgA	p.W731*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	731					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTTGACTGGGCAAGAAACT	0.383																																																	0													77	83	81					6																	69758162		2203	4300	6503	SO:0001587	stop_gained	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2193G>A	6.37:g.69758162G>A	ENSP00000359630:p.Trp731*		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.W731*	ENST00000370598.1	37	c.2193	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	48	13.913150	0.99770	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9103	0.92481	0.0:0.0:1.0:0.0	.	.	.	.	X	731	.	ENSP00000359630:W731X	W	+	3	0	BAI3	69814883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.547000	0.85894	0.655000	0.94253	TGG	BAI3	-	pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib		0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69758162	1	no_errors	ENST00000370598	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	69758162	G	A	69758162	4	1	34	1	0	0	0	0	0	1	0	0	1301	1241	43	4	2239	4	BAI3	6	69758162	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	13299369	69758162	101356905	153	4620										
DOPEY1	23033	genome.wustl.edu	37	chr6	83849973	83849973	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tagaccagaaacacttgtttGaagcacgcagtggaatcctc	9	10	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:83849973G>A	ENST00000349129.2	+	23	5526	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1737K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1747K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1756					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACACTTGTTTGAAGCACGCAG	0.388																																																	0													136	126	129					6																	83849973		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5266G>A	6.37:g.83849973G>A	ENSP00000195654:p.Glu1756Lys		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E1756K	ENST00000349129.2	37	c.5266	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610707	0.66558	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24538	1.85;1.88	5.55	4.69	0.59074	.	0.045294	0.85682	N	0.000000	T	0.09905	0.0243	L	0.34521	1.04	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.14023	0.01;0.001;0.003	T	0.05920	-1.0856	10	0.27785	T	0.31	.	14.5053	0.67748	0.0707:0.0:0.9293:0.0	.	1647;1747;1756	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	1756;1737;1737	ENSP00000195654:E1756K;ENSP00000237163:E1737K	ENSP00000237163:E1737K	E	+	1	0	DOPEY1	83906692	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.581000	0.82535	1.477000	0.48234	0.585000	0.79938	GAA	DOPEY1	-	superfamily_ARM-type_fold		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83849973	1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83849973	G	A	83849973	3	1	34	1	0	0	0	0	1	0	0	0	4717	1291	45	1	5348	1	DOPEY1	6	83849973	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	14091811	83849973	87265094	154	4621										
ASCC3	10973	genome.wustl.edu	37	chr6	101095188	101095188	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggatgtgtggtggtaggattGaaaattgtctcaaagggcta	15	3	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:101095188G>C	ENST00000369162.2	-	21	3736	c.3392C>G	c.(3391-3393)tCa>tGa	p.S1131*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1131	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGGTAGGATTGAAAATTGTCT	0.423																																																	0													127	124	125					6																	101095188		2203	4300	6503	SO:0001587	stop_gained	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3392C>G	6.37:g.101095188G>C	ENSP00000358159:p.Ser1131*		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1131*	ENST00000369162.2	37	c.3392	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.742506	0.99252	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.98	5.98	0.97165	.	0.140928	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	1131	.	ENSP00000358159:S1131X	S	-	2	0	ASCC3	101201909	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.524000	0.73791	2.838000	0.97847	0.655000	0.94253	TCA	ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom		0.423	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	G	NM_006828		101095188	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	101095188	G	C	101095188	4	2	34	1	0	0	0	0	0	1	0	0	1034	1294	45	1	3304	1	ASCC3	6	101095188	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	17245215	101095188	70019879	155	4622										
TUBE1	51175	genome.wustl.edu	37	chr6	112397151	112397151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tagaattacctcgttaggttGaggagcaaatttgccacaat	9	7	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:112397151G>A	ENST00000368662.5	-	8	879	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	267					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TCGTTAGGTTGAGGAGCAAAT	0.343																																																	0													110	115	114					6																	112397151		2203	4300	6503	SO:0001819	synonymous_variant	51175			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.801C>T	6.37:g.112397151G>A			Q5H8W8|Q8NEG3	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.L267	ENST00000368662.5	37	c.801	CCDS5100.1	6																																																																																			TUBE1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase		0.343	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	G	NM_016262		112397151	-1	no_errors	ENST00000368662	ensembl	human	known	70_37	silent	SNP	0.997	A	A	112397151	G	A	112397151	2	1	34	1	0	0	0	0	0	0	0	1	16794	1277	45	1		1	TUBE1	6	112397151	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	11301963	112397151	58717916	156	4623										
CLVS2	134829	genome.wustl.edu	37	chr6	123377007	123377007	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caactaattcatcctgagatCctgccctctgagtttggagg	9	11	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:123377007C>T	ENST00000275162.5	+	5	2067	c.732C>T	c.(730-732)atC>atT	p.I244I	CLVS2_ENST00000368438.1_Silent_p.I98I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453																																																	0													188	159	168					6																	123377007		2203	4300	6503	SO:0001819	synonymous_variant	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.732C>T	6.37:g.123377007C>T			B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.I244	ENST00000275162.5	37	c.732	CCDS34525.1	6																																																																																			CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran		0.453	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123377007	1	no_errors	ENST00000275162	ensembl	human	known	70_37	silent	SNP	0.948	T	T	123377007	C	T	123377007	2	4	34	1	0	0	0	0	0	0	0	1	3577	845	30	1		1	CLVS2	6	123377007	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10979856	123377007	47738060	157	4624										
TPD52L1	7164	genome.wustl.edu	37	chr6	125541297	125541297	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctgacttctctagcatgctCtctgaggaggaaaaggaaga	12	8	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:125541297C>G	ENST00000534000.1	+	2	389	c.93C>G	c.(91-93)ctC>ctG	p.L31L	TPD52L1_ENST00000532429.1_Silent_p.L2L|TPD52L1_ENST00000368388.2_Silent_p.L31L|TPD52L1_ENST00000528193.1_Silent_p.L31L|TPD52L1_ENST00000368402.5_Silent_p.L31L|TPD52L1_ENST00000527711.1_Silent_p.L31L|TPD52L1_ENST00000534199.1_Silent_p.L2L|TPD52L1_ENST00000304877.13_Silent_p.L31L|TPD52L1_ENST00000392482.2_Silent_p.L2L|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000524679.1_Silent_p.L2L	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	31					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTAGCATGCTCTCTGAGGAGG	0.388																																																	0													139	135	136					6																	125541297		2203	4300	6503	SO:0001819	synonymous_variant	7164			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.93C>G	6.37:g.125541297C>G			A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	pfam_TPD52	p.L31	ENST00000534000.1	37	c.93	CCDS5130.1	6																																																																																			TPD52L1	-	pfam_TPD52		0.388	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	HGNC	protein_coding	OTTHUMT00000042065.2	C			125541297	1	no_errors	ENST00000534000	ensembl	human	known	70_37	silent	SNP	0.970	G	G	125541297	C	G	125541297	2	3	34	1	0	0	0	0	0	0	0	1	16429	900	32	1		1	TPD52L1	6	125541297	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2164290	125541297	45573770	158	4625										
HIVEP2	3097	genome.wustl.edu	37	chr6	143074975	143074975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gacatagtcattaggaccctCagggaaaaggctggagcctg	13	9	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:143074975C>T	ENST00000367604.1	-	9	7249	c.6610G>A	c.(6610-6612)Gag>Aag	p.E2204K	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2204K|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E2204K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTAGGACCCTCAGGGAAAAGG	0.502																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													98	99	99					6																	143074975		1917	4123	6040	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6610G>A	6.37:g.143074975C>T	ENSP00000356576:p.Glu2204Lys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E2204K	ENST00000367604.1	37	c.6610	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784095	0.49997	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02323	4.34;4.34;4.34	5.65	5.65	0.86999	.	0.372336	0.31323	N	0.007851	T	0.06872	0.0175	L	0.45581	1.43	0.49915	D	0.99983	D	0.69078	0.997	D	0.73380	0.98	T	0.50849	-0.8779	10	0.31617	T	0.26	-20.1578	19.7301	0.96179	0.0:1.0:0.0:0.0	.	2204	P31629	ZEP2_HUMAN	K	2204	ENSP00000356576:E2204K;ENSP00000356575:E2204K;ENSP00000012134:E2204K	ENSP00000012134:E2204K	E	-	1	0	HIVEP2	143116668	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.766000	0.55280	2.676000	0.91093	0.655000	0.94253	GAG	HIVEP2	-	NULL		0.502	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143074975	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143074975	C	T	143074975	3	4	34	1	0	0	0	0	1	0	0	0	7207	835	29	1	734	1	HIVEP2	6	143074975	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	17533678	143074975	28040092	159	4626										
SYNE1	23345	genome.wustl.edu	37	chr6	152690138	152690138	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgcttagcgctagatactgaGaagacagctgcgacactctg	11	10	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:152690138G>A	ENST00000367255.5	-	61	10377	c.9776C>T	c.(9775-9777)tCt>tTt	p.S3259F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S3259F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3266F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3298F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3266F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3259					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGATACTGAGAAGACAGCTG	0.502										HNSCC(10;0.0054)																																							0													107	95	99					6																	152690138		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9776C>T	6.37:g.152690138G>A	ENSP00000356224:p.Ser3259Phe		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3259F	ENST00000367255.5	37	c.9776	CCDS5236.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.845767|4.845767	0.91197|0.91197	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.52526	.|1.25;0.66;1.25;0.66;0.66	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.313728	.|0.27871	.|N	.|0.017502	T|T	0.48804|0.48804	0.1520|0.1520	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.59357	.|0.978;0.979;0.978;0.985	.|D;P;D;P	.|0.63703	.|0.917;0.908;0.917;0.864	T|T	0.50800|0.50800	-0.8785|-0.8785	5|10	.|0.56958	.|D	.|0.05	.|.	20.3363|20.3363	0.98740|0.98740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3259;376;3259;3266	.|Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|SYNE1_HUMAN;.;.;.	F|F	376|3259;3266;3259;3266;3298	.|ENSP00000356224:S3259F;ENSP00000396024:S3266F;ENSP00000265368:S3259F;ENSP00000390975:S3266F;ENSP00000341887:S3298F	.|ENSP00000265368:S3259F	L|S	-|-	1|2	0|0	SYNE1|SYNE1	152731831|152731831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.476000|9.476000	0.97823|0.97823	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	CTC|TCT	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152690138	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152690138	G	A	152690138	3	1	34	1	0	0	0	0	1	0	0	0	15475	942	33	1	17034	1	SYNE1	6	152690138	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	9615163	152690138	18424929	160	4627										
VIP	7432	genome.wustl.edu	37	chr6	153073410	153073410	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcctctttacagggcaccttCtgctctcaggtaagttccct	8	14	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:153073410C>A	ENST00000367244.3	+	2	270	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	VIP_ENST00000367243.3_Missense_Mutation_p.S33Y	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	33					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AGGGCACCTTCTGCTCTCAGG	0.433																																																	0													122	104	110					6																	153073410		2203	4300	6503	SO:0001583	missense	7432				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.98C>A	6.37:g.153073410C>A	ENSP00000356213:p.Ser33Tyr		Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.S33Y	ENST00000367244.3	37	c.98	CCDS5240.1	6	.	.	.	.	.	.	.	.	.	.	C	7.385	0.629679	0.14257	.	.	ENSG00000146469	ENST00000367244;ENST00000367243	T;T	0.24723	1.84;1.84	5.5	3.68	0.42216	.	0.584978	0.19258	N	0.118757	T	0.09024	0.0223	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31054	0.306;0.178;0.112	B;B;B	0.30495	0.054;0.116;0.054	T	0.06180	-1.0841	10	0.87932	D	0	-16.5729	9.8979	0.41329	0.0:0.7823:0.1405:0.0772	.	33;33;33	A8K7E4;P01282-2;P01282	.;.;VIP_HUMAN	Y	33	ENSP00000356213:S33Y;ENSP00000356212:S33Y	ENSP00000356212:S33Y	S	+	2	0	VIP	153115103	0.005000	0.15991	0.006000	0.13384	0.012000	0.07955	1.712000	0.37940	0.657000	0.30906	0.585000	0.79938	TCT	VIP	-	NULL		0.433	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1	C			153073410	1	no_errors	ENST00000367244	ensembl	human	known	70_37	missense	SNP	0.151	A	A	153073410	C	A	153073410	3	1	34	1	0	0	0	0	1	0	0	0	17198	913	32	3	100	3	VIP	6	153073410	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	383272	153073410	18041657	161	4628										
RSPH3	83861	genome.wustl.edu	37	chr6	159403702	159403702	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttctaacactggtttaacttCaagatcaaagtcaaagagct	6	8	4	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:159403702C>G	ENST00000252655.1	-	5	1126	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	RSPH3_ENST00000449822.1_Missense_Mutation_p.E75Q|RSPH3_ENST00000297262.3_Missense_Mutation_p.E217Q|RSPH3_ENST00000367069.2_Missense_Mutation_p.E171Q	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	313										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGTTTAACTTCAAGATCAAAG	0.348																																																	0													52	51	52					6																	159403702		2203	4300	6503	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.937G>C	6.37:g.159403702C>G	ENSP00000252655:p.Glu313Gln		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.E313Q	ENST00000252655.1	37	c.937	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727359	0.89390	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.41	5.41	0.78517	.	0.099058	0.64402	D	0.000002	T	0.61515	0.2353	M	0.93062	3.375	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71178	-0.4669	10	0.62326	D	0.03	-15.3967	18.8138	0.92070	0.0:1.0:0.0:0.0	.	217;313	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	Q	171;75;313;217	ENSP00000356036:E171Q;ENSP00000393195:E75Q;ENSP00000252655:E313Q;ENSP00000297262:E217Q	ENSP00000252655:E313Q	E	-	1	0	RSPH3	159323690	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.187000	0.77730	2.534000	0.85438	0.655000	0.94253	GAA	RSPH3	-	pfam_Radial_spoke_3		0.348	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		C	NM_031924		159403702	-1	no_errors	ENST00000252655	ensembl	human	known	70_37	missense	SNP	0.992	G	G	159403702	C	G	159403702	3	3	34	1	0	0	0	0	1	0	0	0	13735	835	29	1	761	1	RSPH3	6	159403702	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6330292	159403702	11711365	162	4629										
IGF2R	3482	genome.wustl.edu	37	chr6	160479062	160479062	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgtttcctgtaggcttgctCtataagggatcccaacagtg	10	9	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:160479062C>G	ENST00000356956.1	+	21	2952	c.2804C>G	c.(2803-2805)tCt>tGt	p.S935C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	935					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGGCTTGCTCTATAAGGGAT	0.413																																																	0													159	148	152					6																	160479062		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2804C>G	6.37:g.160479062C>G	ENSP00000349437:p.Ser935Cys		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S935C	ENST00000356956.1	37	c.2804	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805036	0.70682	.	.	ENSG00000197081	ENST00000356956	T	0.02421	4.3	5.65	5.65	0.86999	Mannose-6-phosphate receptor, binding (1);	0.296778	0.38605	N	0.001621	T	0.10508	0.0257	M	0.75777	2.31	0.58432	D	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.01748	-1.1282	10	0.51188	T	0.08	-8.2385	19.6915	0.96002	0.0:1.0:0.0:0.0	.	935	P11717	MPRI_HUMAN	C	935	ENSP00000349437:S935C	ENSP00000349437:S935C	S	+	2	0	IGF2R	160399052	1.000000	0.71417	0.344000	0.25628	0.523000	0.34469	6.294000	0.72738	2.824000	0.97209	0.655000	0.94253	TCT	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.413	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	C	NM_000876		160479062	1	no_errors	ENST00000356956	ensembl	human	known	70_37	missense	SNP	0.975	G	G	160479062	C	G	160479062	3	3	34	1	0	0	0	0	1	0	0	0	7596	913	32	1	2886	1	IGF2R	6	160479062	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1075360	160479062	10636005	163	4630										
MAP3K4	4216	genome.wustl.edu	37	chr6	161527647	161527647	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggagaaagaatatcattggtCaagtttgtgatacgcctaag	11	5	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:161527647C>G	ENST00000392142.4	+	20	4106	c.3958C>G	c.(3958-3960)Caa>Gaa	p.Q1320E	MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q1270E|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q1316E|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q1266E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1320					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TATCATTGGTCAAGTTTGTGA	0.398																																																	0													170	155	160					6																	161527647		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3958C>G	6.37:g.161527647C>G	ENSP00000375986:p.Gln1320Glu		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.Q1320E	ENST00000392142.4	37	c.3958	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584367	0.86748	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.70986	-0.49;-0.53;-0.53;-0.49	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.67924	0.2945	L	0.27053	0.805	0.80722	D	1	P;P;D;D	0.60160	0.947;0.846;0.984;0.987	P;P;P;P	0.61070	0.832;0.449;0.879;0.883	T	0.73056	-0.4103	10	0.56958	D	0.05	-18.4948	17.9942	0.89177	0.0:1.0:0.0:0.0	.	1316;256;1270;1320	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	E	1270;1320;1270;1316;1266	ENSP00000355886:Q1270E;ENSP00000375986:Q1320E;ENSP00000355887:Q1316E;ENSP00000297332:Q1266E	ENSP00000297332:Q1266E	Q	+	1	0	MAP3K4	161447637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.223000	0.72356	0.585000	0.79938	CAA	MAP3K4	-	NULL		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161527647	1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	G	G	161527647	C	G	161527647	3	3	34	1	0	0	0	0	1	0	0	0	9275	827	29	1	4036	1	MAP3K4	6	161527647	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1048585	161527647	9587420	164	4631										
PDE10A	10846	genome.wustl.edu	37	chr6	165801877	165801877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggtggtcgaacttctgcagGtagctgttactgaagcccct	13	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:165801877G>A	ENST00000366882.1	-	18	1846	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PDE10A_ENST00000354448.4_Silent_p.Y564Y|PDE10A_ENST00000539869.2_Silent_p.Y574Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	564					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACTTCTGCAGGTAGCTGTTAC	0.512																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													145	122	130					6																	165801877		2203	4300	6503	SO:0001819	synonymous_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1692C>T	6.37:g.165801877G>A			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Y574	ENST00000366882.1	37	c.1722		6																																																																																			PDE10A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.512	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	G			165801877	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	silent	SNP	1.000	A	A	165801877	G	A	165801877	2	1	34	1	0	0	0	0	0	0	0	1	11654	1256	44	4		4	PDE10A	6	165801877	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4274230	165801877	5313190	165	4632										
HOXA7	3204	genome.wustl.edu	37	chr7	27194714	27194714	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcttaatctggcgctcggtGaggcagagcgcgtgggcgat	16	9	2	2	rs150261196		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:27194714G>A	ENST00000242159.3	-	2	640	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	169					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GGCGCTCGGTGAGGCAGAGCG	0.622																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	90	101	97		507	5	1	7	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	HOXA7	NM_006896.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		169/231	27194714	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.507C>T	7.37:g.27194714G>A			A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.L169	ENST00000242159.3	37	c.507	CCDS5408.1	7																																																																																			HOXA7	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.622	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA7	HGNC	protein_coding	OTTHUMT00000358695.1	G			27194714	-1	no_errors	ENST00000242159	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27194714	G	A	27194714	2	1	34	1	0	0	0	0	0	0	0	1	7317	1277	45	1		1	HOXA7	7	27194714	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		27194714	131943949	166	4633										
CREB5	9586	genome.wustl.edu	37	chr7	28848933	28848933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggaaatttctggaacggaacCgggcagctgccacccgctgc	13	13	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:28848933C>T	ENST00000357727.2	+	9	1546	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	CREB5_ENST00000396298.2_Missense_Mutation_p.R247W|CREB5_ENST00000396300.2_Missense_Mutation_p.R379W|CREB5_ENST00000396299.2_Missense_Mutation_p.R353W|CREB5_ENST00000409603.1_Missense_Mutation_p.R353W	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	386	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGAACGGAACCGGGCAGCTGC	0.587																																																	0													49	54	53					7																	28848933		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1156C>T	7.37:g.28848933C>T	ENSP00000350359:p.Arg386Trp		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R386W	ENST00000357727.2	37	c.1156	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610642	0.87258	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.99	4.16	0.48862	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	H	0.97214	3.96	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92816	0.6268	10	0.87932	D	0	-24.4115	15.4492	0.75259	0.2543:0.7457:0.0:0.0	.	247;386	B4DU13;Q02930	.;CREB5_HUMAN	W	353;386;379;353;247	ENSP00000379593:R353W;ENSP00000350359:R386W;ENSP00000379594:R379W;ENSP00000387197:R353W;ENSP00000379592:R247W	ENSP00000350359:R386W	R	+	1	2	CREB5	28815458	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.169000	0.42434	0.834000	0.34852	-0.181000	0.13052	CGG	CREB5	-	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP		0.587	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28848933	1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28848933	C	T	28848933	3	4	34	1	0	0	0	0	1	0	0	0	3865	643	23	2	1241	2	CREB5	7	28848933	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1654219	28848933	130289730	167	4634										
CCDC129	223075	genome.wustl.edu	37	chr7	31683552	31683552	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcccttcaggacactacagtGagggagctatgttccgtaag	12	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:31683552G>A	ENST00000407970.3	+	11	2606	c.2568G>A	c.(2566-2568)gtG>gtA	p.V856V	CCDC129_ENST00000319386.3_Silent_p.V708V|CCDC129_ENST00000451887.2_Silent_p.V882V|CCDC129_ENST00000409210.1_Silent_p.V764V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	856										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACACTACAGTGAGGGAGCTAT	0.502																																																	0													63	60	61					7																	31683552		2203	4300	6503	SO:0001819	synonymous_variant	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2568G>A	7.37:g.31683552G>A			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	NULL	p.V882	ENST00000407970.3	37	c.2646	CCDS5435.2	7																																																																																			CCDC129	-	NULL		0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	G	NM_194300		31683552	1	no_errors	ENST00000451887	ensembl	human	known	70_37	silent	SNP	0.996	A	A	31683552	G	A	31683552	2	1	34	1	0	0	0	0	0	0	0	1	2769	1277	45	1		1	CCDC129	7	31683552	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2834619	31683552	127455111	168	4635										
GPR141	353345	genome.wustl.edu	37	chr7	37780111	37780111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggtgggtgtcatttccattcTtttcctcctggtgaaaatga	10	8	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:37780111T>C	ENST00000447769.1	+	4	405	c.116T>C	c.(115-117)cTt>cCt	p.L39P	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L39P			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTCCATTCTTTTCCTCCTG	0.502																																																	0													107	110	109					7																	37780111		2203	4300	6503	SO:0001583	missense	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.116T>C	7.37:g.37780111T>C	ENSP00000390410:p.Leu39Pro		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L39P	ENST00000447769.1	37	c.116	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352415	0.61293	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.50001	0.76;0.76;0.76	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.207572	0.41500	D	0.000867	T	0.62196	0.2408	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.65520	-0.6148	10	0.87932	D	0	-11.3642	9.4669	0.38817	0.0:0.0842:0.0:0.9158	.	39	Q7Z602	GP141_HUMAN	P	39	ENSP00000396300:L39P;ENSP00000390410:L39P;ENSP00000334540:L39P	ENSP00000334540:L39P	L	+	2	0	GPR141	37746636	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.014000	0.49590	2.082000	0.62665	0.528000	0.53228	CTT	GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	T	NM_181791		37780111	1	no_errors	ENST00000334425	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37780111	T	C	37780111	3	2	34	1	0	0	0	0	1	0	0	0	6668	1609	56	5	118	5	GPR141	7	37780111	Missense_Mutation	SNP	T	TCGA-C5-A2LZ-01A-11D-A20U-09	6096559	37780111	121358552	169	4636										
ADCY1	107	genome.wustl.edu	37	chr7	45614588	45614588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggcggccccgcccggggttCcgccggggccgctggggggc	22	16	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:45614588C>T	ENST00000297323.7	+	1	468	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	149					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gcccggggttccgccggggcc	0.706																																																	0													8	11	10					7																	45614588		2079	4090	6169	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.446C>T	7.37:g.45614588C>T	ENSP00000297323:p.Ser149Phe		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S149F	ENST00000297323.7	37	c.446	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	6.698	0.497348	0.12762	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79554	-1.28	2.84	-1.7	0.08159	.	1.737770	0.03975	U	0.292375	T	0.55449	0.1921	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.42949	-0.9421	10	0.09843	T	0.71	.	1.0	0.01475	0.2637:0.2737:0.3133:0.1493	.	149	Q08828	ADCY1_HUMAN	F	149	ENSP00000297323:S149F	ENSP00000297323:S149F	S	+	2	0	ADCY1	45581113	0.000000	0.05858	0.000000	0.03702	0.781000	0.44180	-1.912000	0.01582	-0.412000	0.07519	0.205000	0.17691	TCC	ADCY1	-	NULL		0.706	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45614588	1	no_errors	ENST00000297323	ensembl	human	known	70_37	missense	SNP	0.000	T	T	45614588	C	T	45614588	3	4	34	1	0	0	0	0	1	0	0	0	292	855	30	1	448	1	ADCY1	7	45614588	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7834477	45614588	113524075	170	4637										
PCLO	27445	genome.wustl.edu	37	chr7	82581809	82581809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtaagttggagtggtgttgtCattgcatgttctgcacccac	12	8	2	0	rs267601593		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:82581809C>T	ENST00000333891.9	-	5	8797	c.8460G>A	c.(8458-8460)atG>atA	p.M2820I	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.M2820I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGTGTTGTCATTGCATGTT	0.478																																																	0													234	198	209					7																	82581809		2067	4217	6284	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8460G>A	7.37:g.82581809C>T	ENSP00000334319:p.Met2820Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.M2820I	ENST00000333891.9	37	c.8460	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	0.379	-0.929957	0.02359	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.33	5.69	-1.06	0.10002	.	.	.	.	.	T	0.12732	0.0309	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	9	0.87932	D	0	.	8.9711	0.35908	0.0:0.6722:0.1077:0.2201	.	2820;2820	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2751;2820;2820	ENSP00000334319:M2820I;ENSP00000388393:M2820I	ENSP00000334319:M2820I	M	-	3	0	PCLO	82419745	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.137000	0.10389	-0.559000	0.06110	0.655000	0.94253	ATG	PCLO	-	NULL		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82581809	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	T	T	82581809	C	T	82581809	3	4	34	1	0	0	0	0	1	0	0	0	11607	826	29	1	7069	1	PCLO	7	82581809	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	36967221	82581809	76556854	171	4638										
GRM3	2913	genome.wustl.edu	37	chr7	86479761	86479761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctgtttgtttgcacccaagGttcacatcatcctgtttcaa	7	11	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:86479761G>A	ENST00000361669.2	+	5	3566	c.2467G>A	c.(2467-2469)Gtt>Att	p.V823I	GRM3_ENST00000439827.1_Missense_Mutation_p.G467D|GRM3_ENST00000394720.2_Missense_Mutation_p.G465D|GRM3_ENST00000536043.1_Missense_Mutation_p.V695I|GRM3_ENST00000546348.1_Missense_Mutation_p.V415I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	823					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCACCCAAGGTTCACATCAT	0.498																																					GBM(52;969 1098 3139 52280)												0													228	165	186					7																	86479761		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2467G>A	7.37:g.86479761G>A	ENSP00000355316:p.Val823Ile		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.V823I	ENST00000361669.2	37	c.2467	CCDS5600.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635760|3.635760	0.67130|0.67130	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000439827;ENST00000394720|ENST00000361669;ENST00000546348;ENST00000536043	D;D|D;D;D	0.87966|0.88586	-2.32;-2.32|-2.4;-2.4;-2.4	5.96|5.96	5.07|5.07	0.68467|0.68467	.|GPCR, family 3, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89719|0.89719	0.6796|0.6796	L|L	0.61387|0.61387	1.9|1.9	0.33729|0.33729	D|D	0.617959|0.617959	P|P;B;B	0.39250|0.34934	0.665|0.476;0.123;0.149	B|B;B;B	0.37047|0.41619	0.24|0.361;0.108;0.173	D|D	0.93072|0.93072	0.6483|0.6483	9|10	0.13108|0.56958	T|D	0.6|0.05	.|.	16.2117|16.2117	0.82165|0.82165	0.0:0.1332:0.8668:0.0|0.0:0.1332:0.8668:0.0	.|.	467|415;695;823	G5E9K2|B7Z204;F5GYZ2;Q14832	.|.;.;GRM3_HUMAN	D|I	467;465|823;415;695	ENSP00000398767:G467D;ENSP00000378209:G465D|ENSP00000355316:V823I;ENSP00000444064:V415I;ENSP00000441407:V695I	ENSP00000378209:G465D|ENSP00000355316:V823I	G|V	+|+	2|1	0|0	GRM3|GRM3	86317697|86317697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.857000|9.857000	0.99534|0.99534	1.489000|1.489000	0.48450|0.48450	0.655000|0.655000	0.94253|0.94253	GGT|GTT	GRM3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	G			86479761	1	no_errors	ENST00000361669	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86479761	G	A	86479761	3	1	34	1	0	0	0	0	1	0	0	0	6818	1261	44	4	2481	4	GRM3	7	86479761	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3897952	86479761	72658902	172	4639										
CDK14	5218	genome.wustl.edu	37	chr7	90747472	90747472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaaacaatagttatggcaaaAgtctatcaaacagcaagcac	6	8	2	0	rs35643773		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:90747472A>G	ENST00000380050.3	+	14	1518	c.1387A>G	c.(1387-1389)Agt>Ggt	p.S463G	CDK14_ENST00000436577.2_Missense_Mutation_p.S334G|CDK14_ENST00000406263.1_Missense_Mutation_p.S417G|CDK14_ENST00000265741.3_Missense_Mutation_p.S445G			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	463			S -> R. {ECO:0000269|PubMed:17344846}.		cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTATGGCAAAAGTCTATCAAA	0.418																																					GBM(83;1228 1256 8311 16577 31299)												0													78	76	77					7																	90747472		2203	4300	6503	SO:0001583	missense	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1387A>G	7.37:g.90747472A>G	ENSP00000369390:p.Ser463Gly		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	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.S463G	ENST00000380050.3	37	c.1387		7	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596947	0.46318	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.71698	-0.49;-0.49;-0.47;-0.59	5.87	5.87	0.94306	.	0.285709	0.40144	N	0.001165	T	0.55130	0.1901	N	0.22421	0.69	0.34507	D	0.706635	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61068	-0.7137	10	0.45353	T	0.12	-10.6716	9.0746	0.36513	0.8931:0.0:0.1069:0.0	.	334;445;463	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	G	463;445;417;334	ENSP00000369390:S463G;ENSP00000265741:S445G;ENSP00000385034:S417G;ENSP00000398936:S334G	ENSP00000265741:S445G	S	+	1	0	CDK14	90585408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.659000	0.46741	2.371000	0.80710	0.533000	0.62120	AGT	CDK14	-	NULL		0.418	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	A	NM_012395		90747472	1	no_errors	ENST00000380050	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90747472	A	G	90747472	3	3	34	1	0	0	0	0	1	0	0	0	3135	72	3	5	1383	5	CDK14	7	90747472	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	4267711	90747472	68391191	173	4640										
AKAP9	10142	genome.wustl.edu	37	chr7	91726507	91726507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgcatgagctccagtccaaaGtggaagatcttcagcgccag	11	11	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:91726507G>A	ENST00000359028.2	+	41	10471	c.10246G>A	c.(10246-10248)Gtg>Atg	p.V3416M	AKAP9_ENST00000356239.3_Missense_Mutation_p.V3412M|AKAP9_ENST00000358100.2_Missense_Mutation_p.V3362M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3416					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGTCCAAAGTGGAAGATCT	0.448			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													42	44	44					7																	91726507		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10246G>A	7.37:g.91726507G>A	ENSP00000351922:p.Val3416Met		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.V3416M	ENST00000359028.2	37	c.10246		7	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613130	0.28712	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	3.99;3.99;4.0;3.91	5.56	4.63	0.57726	.	0.205373	0.24366	N	0.039142	T	0.10294	0.0252	L	0.57536	1.79	0.35978	D	0.835794	B;D;P;D;D	0.53462	0.085;0.96;0.933;0.96;0.96	B;P;P;P;P	0.54312	0.02;0.748;0.486;0.684;0.684	T	0.01639	-1.1306	10	0.59425	D	0.04	.	12.8632	0.57926	0.0:0.1566:0.7308:0.1126	.	687;3416;3416;3412;3404	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	M	3412;3416;3362;3416;1258	ENSP00000348573:V3412M;ENSP00000351922:V3416M;ENSP00000350813:V3362M;ENSP00000378042:V1258M	ENSP00000348573:V3412M	V	+	1	0	AKAP9	91564443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.797000	0.38804	2.776000	0.95493	0.655000	0.94253	GTG	AKAP9	-	NULL		0.448	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		G	NM_005751		91726507	1	no_errors	ENST00000359028	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91726507	G	A	91726507	3	1	34	1	0	0	0	0	1	0	0	0	459	1029	36	4	10396	4	AKAP9	7	91726507	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	979035	91726507	67412156	174	4641										
TRRAP	8295	genome.wustl.edu	37	chr7	98579413	98579413	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggaagtgagctgtccgaagGagatggcctggaaggtgaac	17	6	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:98579413G>T	ENST00000359863.4	+	58	8844	c.8635G>T	c.(8635-8637)Gag>Tag	p.E2879*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E2861*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E2861*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2879	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTCCGAAGGAGATGGCCTG	0.562																																																	0													46	32	37					7																	98579413		2203	4300	6503	SO:0001587	stop_gained	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8635G>T	7.37:g.98579413G>T	ENSP00000352925:p.Glu2879*		A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2879*	ENST00000359863.4	37	c.8635	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	18.130378|18.130378	0.99899|0.99899	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77778	.|-0.2460	.|3	0.11794|.	T|.	0.64|.	.|.	19.8471|19.8471	0.96713|0.96713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	2879;2861;2860|2600	.|.	ENSP00000347733:E2861X|.	E|R	+|+	1|3	0|2	TRRAP|TRRAP	98417349|98417349	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.898000|0.898000	0.52572|0.52572	9.869000|9.869000	0.99810|0.99810	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAG|AGG	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98579413	1	no_errors	ENST00000359863	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	98579413	G	T	98579413	4	4	34	1	0	0	0	0	0	1	0	0	16632	1175	41	3	8803	3	TRRAP	7	98579413	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6852906	98579413	60559250	175	4642										
FAM200A	221786	genome.wustl.edu	37	chr7	99145492	99145492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatctaatccagttatatgtGaatttaaatttaaacaacat	3	5	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:99145492G>A	ENST00000449309.1	-	2	918	c.539C>T	c.(538-540)tCa>tTa	p.S180L		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	180						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						agttatatgtgaatttaaatt	0.318																																																	0													30	31	30					7																	99145492		1557	2704	4261	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.539C>T	7.37:g.99145492G>A	ENSP00000411372:p.Ser180Leu		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.S180L	ENST00000449309.1	37	c.539	CCDS5668.1	7	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673654	0.47781	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.23754	1.89;1.89	2.47	2.47	0.30058	Ribonuclease H-like (1);	0.744226	0.11437	N	0.564258	T	0.22820	0.0551	L	0.50333	1.59	0.09310	N	1	B	0.29188	0.236	B	0.30401	0.115	T	0.13791	-1.0496	10	0.27785	T	0.31	.	8.5603	0.33507	0.0:0.0:1.0:0.0	.	180	Q8TCP9	F200A_HUMAN	L	180	ENSP00000411372:S180L;ENSP00000386191:S180L	ENSP00000386191:S180L	S	-	2	0	FAM200A	98983428	0.978000	0.34361	0.068000	0.19968	0.910000	0.53928	2.286000	0.43496	1.681000	0.50988	0.655000	0.94253	TCA	FAM200A	-	superfamily_RNaseH-like_dom		0.318	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM200A	HGNC	protein_coding	OTTHUMT00000345467.1	G	NM_145111		99145492	-1	no_errors	ENST00000449309	ensembl	human	known	70_37	missense	SNP	0.122	A	A	99145492	G	A	99145492	3	1	34	1	0	0	0	0	1	0	0	0	5551	1294	45	1	1186	1	FAM200A	7	99145492	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	566079	99145492	59993171	176	4643										
COPS6	10980	genome.wustl.edu	37	chr7	99689397	99689397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcatcggcaggagaatgcgCgggctctttttctgatgagg	16	8	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:99689397C>T	ENST00000303904.3	+	10	1006	c.969C>T	c.(967-969)cgC>cgT	p.R323R	MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|COPS6_ENST00000418625.1_Silent_p.R322R|MIR25_ENST00000384816.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	323	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGAATGCGCGGGCTCTTTT	0.532											OREG0018195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	83	85					7																	99689397		2203	4300	6503	SO:0001819	synonymous_variant	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.969C>T	7.37:g.99689397C>T		1345	A4D2A3|O15387	Silent	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R323	ENST00000303904.3	37	c.969	CCDS5682.1	7																																																																																			COPS6	-	NULL		0.532	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3	C	NM_006833		99689397	1	no_errors	ENST00000303904	ensembl	human	known	70_37	silent	SNP	1.000	T	T	99689397	C	T	99689397	2	4	34	1	0	0	0	0	0	0	0	1	3742	755	27	2		2	COPS6	7	99689397	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	543905	99689397	59449266	177	4644										
LAMB1	3912	genome.wustl.edu	37	chr7	107626528	107626528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggatctaaagcacgaaatatCacctaaaaatggaaacaaga	7	7	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:107626528C>T	ENST00000222399.6	-	7	845	c.615G>A	c.(613-615)gtG>gtA	p.V205V	LAMB1_ENST00000393560.1_Silent_p.V205V|LAMB1_ENST00000393561.1_Silent_p.V229V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	205	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CACGAAATATCACCTAAAAAT	0.323																																																	0													107	105	105					7																	107626528		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.615G>A	7.37:g.107626528C>T			Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.V205	ENST00000222399.6	37	c.615	CCDS5750.1	7																																																																																			LAMB1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.323	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107626528	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107626528	C	T	107626528	2	4	34	1	0	0	0	0	0	0	0	1	8630	813	29	1		1	LAMB1	7	107626528	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7937131	107626528	51512135	178	4645										
LMOD2	442721	genome.wustl.edu	37	chr7	123296144	123296144	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agttggaagacattgaacctGaccgcaaccttcccgtgggg	12	11	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:123296144G>C	ENST00000458573.2	+	1	284	c.127G>C	c.(127-129)Gac>Cac	p.D43H	LMOD2_ENST00000456238.2_Missense_Mutation_p.D43H	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	43	Glu-rich.					cytoskeleton (GO:0005856)											CATTGAACCTGACCGCAACCT	0.532																																																	0													53	57	56					7																	123296144		1935	4126	6061	SO:0001583	missense	442721			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.127G>C	7.37:g.123296144G>C	ENSP00000411932:p.Asp43His		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.D43H	ENST00000458573.2	37	c.127	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988891	0.74589	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.36340	1.26;1.26	5.77	4.79	0.61399	.	0.000000	0.38005	N	0.001850	T	0.54095	0.1837	M	0.78285	2.405	0.54753	D	0.999986	D	0.53745	0.962	P	0.59546	0.859	T	0.57625	-0.7779	10	0.87932	D	0	-19.5321	9.8136	0.40838	0.1795:0.0:0.8205:0.0	.	43	Q6P5Q4	LMOD2_HUMAN	H	43	ENSP00000411932:D43H;ENSP00000398975:D43H	ENSP00000405123:D43H	D	+	1	0	LMOD2	123083380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.779000	0.68948	2.724000	0.93272	0.561000	0.74099	GAC	LMOD2	-	pfam_Tropomodulin		0.532	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	G			123296144	1	no_errors	ENST00000458573	ensembl	human	known	70_37	missense	SNP	0.998	C	C	123296144	G	C	123296144	3	2	34	1	0	0	0	0	1	0	0	0	8878	1290	45	1	129	1	LMOD2	7	123296144	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	15669616	123296144	35842519	179	4646										
CTAGE4	100128553	genome.wustl.edu	37	chr7	143882864	143882864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tttgcaatgagaaacatctaTccaccgaggggtttacctcc	8	11	1	1	rs200691220	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:143882864T>C	ENST00000486333.1	+	1	2306	c.2268T>C	c.(2266-2268)taT>taC	p.Y756Y		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	756	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						GAAACATCTATCCACCGAGGG	0.498																																																	0																																										SO:0001819	synonymous_variant	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2268T>C	7.37:g.143882864T>C			A8K871|O95046	Silent	SNP	superfamily_tRNA-bd_arm	p.Y756	ENST00000486333.1	37	c.2268	CCDS55176.1	7																																																																																			CTAGE4	-	NULL		0.498	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	HGNC	protein_coding	OTTHUMT00000349970.1	T	NM_198495		143882864	1	no_errors	ENST00000486333	ensembl	human	known	70_37	silent	SNP	0.231	C	C	143882864	T	C	143882864	2	2	34	1	0	0	0	0	0	0	0	1	3998	1442	50	5		5	CTAGE4	7	143882864	Silent	SNP	T	TCGA-C5-A2LZ-01A-11D-A20U-09	20586720	143882864	15255799	180	4647										
MLL3	58508	genome.wustl.edu	37	chr7	151873585	151873585	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgggtttacctgcacaccctGagaaaaaacatggtttaccc	8	11	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:151873585G>A	ENST00000262189.6	-	38	9171	c.8953C>T	c.(8953-8955)Cag>Tag	p.Q2985*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2985*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2985					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCACACCCTGAGAAAAAACA	0.473																																																	0													57	55	56					7																	151873585		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8953C>T	7.37:g.151873585G>A	ENSP00000262189:p.Gln2985*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2985*	ENST00000262189.6	37	c.8953	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	18.640446|18.640446	0.99908|0.99908	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|D	.|0.85629	.|-2.01	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.161488|.	0.28589|.	N|.	0.014805|.	.|D	.|0.91815	.|0.7410	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91950	.|0.5570	.|6	0.08837|0.56958	T|D	0.75|0.05	.|.	19.3349|19.3349	0.94312|0.94312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	2985|490	.|ENSP00000353218:S490L	ENSP00000262189:Q2985X|ENSP00000353218:S490L	Q|S	-|-	1|2	0|0	MLL3|MLL3	151504518|151504518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	5.160000|5.160000	0.64929|0.64929	2.570000|2.570000	0.86706|0.86706	0.655000|0.655000	0.94253|0.94253	CAG|TCA	MLL3	-	NULL		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151873585	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151873585	G	A	151873585	4	1	34	1	0	0	0	0	0	1	0	0	9645	1299	45	1	5870	1	MLL3	7	151873585	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7990721	151873585	7265078	181	4648										
MLL3	58508	genome.wustl.edu	37	chr7	151919142	151919142	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgaagattcacagcagtctGaggaaggcactgaaacgaaa	12	7	2	4	rs201254064		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:151919142G>C	ENST00000262189.6	-	22	3661	c.3443C>G	c.(3442-3444)tCa>tGa	p.S1148*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1148*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1148					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1148*(2)									ACAGCAGTCTGAGGAAGGCAC	0.279																																																	2	Substitution - Nonsense(2)	cervix(2)											54	60	58					7																	151919142		2198	4294	6492	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3443C>G	7.37:g.151919142G>C	ENSP00000262189:p.Ser1148*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S1148*	ENST00000262189.6	37	c.3443	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.570198	0.99577	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.58	5.58	0.84498	.	0.202603	0.24542	N	0.037639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	9.7952	0.40731	0.1578:0.0:0.8422:0.0	.	.	.	.	X	1148	.	ENSP00000262189:S1148X	S	-	2	0	MLL3	151550075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.146000	0.50631	2.622000	0.88805	0.650000	0.86243	TCA	MLL3	-	NULL		0.279	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151919142	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	151919142	G	C	151919142	4	2	34	1	0	0	0	0	0	1	0	0	9645	1294	45	1	11444	1	MLL3	7	151919142	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	45557	151919142	7219521	182	4649										
FAM160B2	64760	genome.wustl.edu	37	chr8	21958132	21958132	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcaccacactccggctgtttGaggagctgctgcagaagccc	11	14	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:21958132G>A	ENST00000289921.7	+	11	1415	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	457										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCGGCTGTTTGAGGAGCTGCT	0.647																																																	0													38	44	42					8																	21958132		2011	4183	6194	SO:0001583	missense	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1369G>A	8.37:g.21958132G>A	ENSP00000289921:p.Glu457Lys		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E457K	ENST00000289921.7	37	c.1369	CCDS6021.2	8	.	.	.	.	.	.	.	.	.	.	.	35	5.414429	0.96092	.	.	ENSG00000158863	ENST00000289921	T	0.33865	1.39	5.8	5.8	0.92144	.	0.051419	0.85682	D	0.000000	T	0.63355	0.2504	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65817	-0.6076	10	0.87932	D	0	-27.944	17.5547	0.87887	0.0:0.0:1.0:0.0	.	457	Q86V87	F16B2_HUMAN	K	457	ENSP00000289921:E457K	ENSP00000289921:E457K	E	+	1	0	FAM160B2	22014077	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	9.492000	0.97957	2.755000	0.94549	0.655000	0.94253	GAG	FAM160B2	-	pfam_RetinoicA-induced_16-like		0.647	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	G			21958132	1	no_errors	ENST00000289921	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21958132	G	A	21958132	3	1	34	1	0	0	0	0	1	0	0	0	5486	1291	45	1	1210	1	FAM160B2	8	21958132	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		21958132	124405890	183	4650										
STMN4	81551	genome.wustl.edu	37	chr8	27099947	27099947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggacgacttattcaggggatCggccaggaagcaggagcaga	16	8	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:27099947C>T	ENST00000265770.7	-	3	212	c.76G>A	c.(76-78)Gat>Aat	p.D26N	STMN4_ENST00000519614.1_Missense_Mutation_p.D26N|STMN4_ENST00000519997.1_Missense_Mutation_p.D17N|STMN4_ENST00000522908.1_Missense_Mutation_p.D26N|STMN4_ENST00000523048.1_Missense_Mutation_p.D26N|STMN4_ENST00000350889.4_Missense_Mutation_p.D26N			Q9H169	STMN4_HUMAN	stathmin-like 4	26					regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	TTCAGGGGATCGGCCAGGAAG	0.577																																																	0													96	92	93					8																	27099947		2203	4300	6503	SO:0001583	missense	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.76G>A	8.37:g.27099947C>T	ENSP00000265770:p.Asp26Asn		B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.D26N	ENST00000265770.7	37	c.76		8	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924023	0.52653	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.03	5.03	0.67393	.	0.201386	0.52532	D	0.000080	T	0.29028	0.0721	N	0.19112	0.55	0.34999	D	0.755795	B;B;B;P;B;B	0.39250	0.266;0.003;0.025;0.665;0.002;0.025	B;B;B;B;B;B	0.20577	0.011;0.001;0.004;0.03;0.001;0.004	T	0.48822	-0.9001	9	0.51188	T	0.08	-33.2599	16.242	0.82418	0.0:1.0:0.0:0.0	.	26;17;26;26;26;26	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	N	26;17;26;26;26;26	.	ENSP00000265770:D26N	D	-	1	0	STMN4	27155864	0.954000	0.32549	0.165000	0.22776	0.899000	0.52679	2.432000	0.44784	2.777000	0.95525	0.655000	0.94253	GAT	STMN4	-	pirsf_Stathmin_fam		0.577	STMN4-006	KNOWN	basic|appris_principal	protein_coding	STMN4	HGNC	protein_coding	OTTHUMT00000375941.1	C	NM_030795		27099947	-1	no_errors	ENST00000350889	ensembl	human	known	70_37	missense	SNP	0.596	T	T	27099947	C	T	27099947	3	4	34	1	0	0	0	0	1	0	0	0	15341	884	31	1	594	1	STMN4	8	27099947	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5141815	27099947	119264075	184	4651										
NRG1	3084	genome.wustl.edu	37	chr8	32621795	32621795	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	accccctggcagccagtcttGaggcaacacctgccttccgc	9	18	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:32621795G>C	ENST00000405005.3	+	12	1798	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Missense_Mutation_p.E443Q|NRG1_ENST00000338921.4_Missense_Mutation_p.E608Q|NRG1_ENST00000519301.1_Missense_Mutation_p.E550Q|NRG1_ENST00000287842.3_Missense_Mutation_p.E597Q|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287845.5_Missense_Mutation_p.E571Q|NRG1_ENST00000356819.4_Missense_Mutation_p.E605Q			Q02297	NRG1_HUMAN	neuregulin 1	600					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGCCAGTCTTGAGGCAACACC	0.542																																																	0													53	60	58					8																	32621795		2203	4300	6503	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1798G>C	8.37:g.32621795G>C	ENSP00000384620:p.Glu600Gln		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin	p.E608Q	ENST00000405005.3	37	c.1822	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352028	0.61183	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.95	5.95	0.96441	Neuregulin 1-related, C-terminal (1);	0.129391	0.56097	D	0.000038	T	0.77805	0.4185	L	0.59436	1.845	0.47698	D	0.999495	D;D;D;D;D;D;D	0.76494	0.999;0.995;0.996;0.996;0.995;0.999;0.995	D;D;D;P;D;D;D	0.87578	0.996;0.956;0.98;0.899;0.956;0.998;0.966	T	0.74077	-0.3781	9	.	.	.	-13.5959	20.3789	0.98926	0.0:0.0:1.0:0.0	.	443;571;605;608;597;600;605	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	Q	550;673;608;605;600;571;597;600;443	ENSP00000429582:E550Q;ENSP00000429067:E673Q;ENSP00000343395:E608Q;ENSP00000349275:E605Q;ENSP00000287840:E600Q;ENSP00000287845:E571Q;ENSP00000287842:E597Q;ENSP00000384620:E600Q;ENSP00000439276:E443Q	.	E	+	1	0	NRG1	32741337	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	5.253000	0.65452	2.826000	0.97356	0.563000	0.77884	GAG	NRG1	-	pfam_Neuregulin_1_C		0.542	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	G			32621795	1	no_errors	ENST00000338921	ensembl	human	known	70_37	missense	SNP	0.999	C	C	32621795	G	C	32621795	3	2	34	1	0	0	0	0	1	0	0	0	10671	1291	45	1	3569	1	NRG1	8	32621795	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5521848	32621795	113742227	185	4652										
FGFR1	2260	genome.wustl.edu	37	chr8	38271462	38271462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggaggtcaaggccacgatgcGgtccaggtcttccaccagct	13	13	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:38271462G>A	ENST00000447712.2	-	17	3207	c.2266C>T	c.(2266-2268)Cgc>Tgc	p.R756C	FGFR1_ENST00000326324.6_Missense_Mutation_p.R665C|FGFR1_ENST00000425967.3_Missense_Mutation_p.R787C|FGFR1_ENST00000341462.5_Missense_Mutation_p.R756C|FGFR1_ENST00000335922.5_Missense_Mutation_p.R746C|FGFR1_ENST00000397091.5_Missense_Mutation_p.R754C|FGFR1_ENST00000397113.2_Missense_Mutation_p.R754C|FGFR1_ENST00000397103.1_Missense_Mutation_p.R667C|FGFR1_ENST00000532791.1_Missense_Mutation_p.R754C|FGFR1_ENST00000356207.5_Missense_Mutation_p.R667C|FGFR1_ENST00000397108.4_Missense_Mutation_p.R754C	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCCACGATGCGGTCCAGGTCT	0.632		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													53	60	58					8																	38271462		2203	4300	6503	SO:0001583	missense	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2266C>T	8.37:g.38271462G>A	ENSP00000400162:p.Arg756Cys		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R787C	ENST00000447712.2	37	c.2359	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242709	0.79912	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.33;-1.35;-1.36;-1.35;-1.36;-1.33;-1.35;-1.36;-1.32;-1.33;-1.33	5.36	5.36	0.76844	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	M	0.62209	1.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.997;0.999;0.999	D	0.88615	0.3159	10	0.87932	D	0	.	13.8987	0.63790	0.0:0.0:0.8097:0.1903	.	665;665;756;746;754	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	C	754;787;756;756;754;754;667;746;665;667;754	ENSP00000380280:R754C;ENSP00000393312:R787C;ENSP00000400162:R756C;ENSP00000340636:R756C;ENSP00000432972:R754C;ENSP00000380302:R754C;ENSP00000348537:R667C;ENSP00000337247:R746C;ENSP00000327229:R665C;ENSP00000380292:R667C;ENSP00000380297:R754C	ENSP00000327229:R665C	R	-	1	0	FGFR1	38390619	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.392000	0.59659	2.508000	0.84585	0.655000	0.94253	CGC	FGFR1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.632	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		G			38271462	-1	no_errors	ENST00000425967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38271462	G	A	38271462	3	1	34	1	0	0	0	0	1	0	0	0	5881	1116	39	2	210	2	FGFR1	8	38271462	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5649667	38271462	108092560	186	4653										
RP1	6101	genome.wustl.edu	37	chr8	55540312	55540312	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gatggttatggtgtggatcaGacttctatgaataaggcttg	13	4	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:55540312G>C	ENST00000220676.1	+	4	4018	c.3870G>C	c.(3868-3870)caG>caC	p.Q1290H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1290					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGTGGATCAGACTTCTATGA	0.408																																					Colon(91;1014 1389 7634 14542 40420)												0													153	151	152					8																	55540312		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3870G>C	8.37:g.55540312G>C	ENSP00000220676:p.Gln1290His			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1290H	ENST00000220676.1	37	c.3870	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002976	0.19121	.	.	ENSG00000104237	ENST00000220676	T	0.24151	1.87	5.57	4.7	0.59300	.	0.553758	0.16583	N	0.208139	T	0.32971	0.0847	L	0.34521	1.04	0.31887	N	0.617722	D	0.67145	0.996	P	0.57371	0.819	T	0.39099	-0.9630	10	0.87932	D	0	-0.3265	10.3889	0.44156	0.0901:0.0:0.9099:0.0	.	1290	P56715	RP1_HUMAN	H	1290	ENSP00000220676:Q1290H	ENSP00000220676:Q1290H	Q	+	3	2	RP1	55702865	0.996000	0.38824	0.771000	0.31576	0.119000	0.20118	3.581000	0.53914	1.360000	0.45960	-0.136000	0.14681	CAG	RP1	-	NULL		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55540312	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.969	C	C	55540312	G	C	55540312	3	2	34	1	0	0	0	0	1	0	0	0	13562	933	33	1	3880	1	RP1	8	55540312	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	17268850	55540312	90823710	187	4654										
FAM110B	90362	genome.wustl.edu	37	chr8	59059031	59059031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cgtgaagcccgccgtgctggCcaagcccccggtgtgcccgg	15	17	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:59059031C>T	ENST00000361488.3	+	5	1122	c.242C>T	c.(241-243)gCc>gTc	p.A81V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	81						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCCGTGCTGGCCAAGCCCCCG	0.682																																																	0													28	35	33					8																	59059031		2201	4299	6500	SO:0001583	missense	90362			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.242C>T	8.37:g.59059031C>T	ENSP00000355204:p.Ala81Val		Q5BM08|Q9Y4K2	Missense_Mutation	SNP	NULL	p.A81V	ENST00000361488.3	37	c.242	CCDS6170.1	8	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916770	0.52546	.	.	ENSG00000169122	ENST00000361488	T	0.46063	0.88	5.4	5.4	0.78164	.	0.117281	0.64402	D	0.000018	T	0.38852	0.1056	L	0.44542	1.39	0.58432	D	0.999998	B	0.11235	0.004	B	0.10450	0.005	T	0.14062	-1.0486	9	.	.	.	-32.726	19.1515	0.93491	0.0:1.0:0.0:0.0	.	81	Q8TC76	F110B_HUMAN	V	81	ENSP00000355204:A81V	.	A	+	2	0	FAM110B	59221585	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.728000	0.68531	2.527000	0.85204	0.462000	0.41574	GCC	FAM110B	-	NULL		0.682	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2	C	NM_147189		59059031	1	no_errors	ENST00000361488	ensembl	human	known	70_37	missense	SNP	0.999	T	T	59059031	C	T	59059031	3	4	34	1	0	0	0	0	1	0	0	0	5412	739	26	4	244	4	FAM110B	8	59059031	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3518719	59059031	87304991	188	4655										
ADHFE1	137872	genome.wustl.edu	37	chr8	67357469	67357469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caagcttcatggaagctattGagtttgcccaaaagggagct	11	8	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:67357469G>C	ENST00000396623.3	+	6	401	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.E76Q|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E124Q	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	124					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGAAGCTATTGAGTTTGCCCA	0.423																																																	0													111	99	103					8																	67357469		2203	4300	6503	SO:0001583	missense	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.370G>C	8.37:g.67357469G>C	ENSP00000379865:p.Glu124Gln		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.E124Q	ENST00000396623.3	37	c.370	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471235	0.26423	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.64	5.64	0.86602	Alcohol dehydrogenase, iron-type (1);	0.148446	0.64402	D	0.000018	T	0.32406	0.0828	L	0.38175	1.15	0.42985	D	0.994471	B	0.17038	0.02	B	0.24974	0.057	T	0.11817	-1.0572	10	0.16420	T	0.52	-9.4925	11.0114	0.47665	0.0709:0.1311:0.7981:0.0	.	124	Q8IWW8	HOT_HUMAN	Q	59;124;124;76	ENSP00000428055:E59Q;ENSP00000368695:E124Q;ENSP00000379865:E124Q;ENSP00000407115:E76Q	ENSP00000368695:E124Q	E	+	1	0	ADHFE1	67520023	0.986000	0.35501	1.000000	0.80357	0.994000	0.84299	1.200000	0.32247	2.658000	0.90341	0.655000	0.94253	GAG	ADHFE1	-	pfam_ADH_Fe		0.423	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	G	NM_144650		67357469	1	no_errors	ENST00000396623	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67357469	G	C	67357469	3	2	34	1	0	0	0	0	1	0	0	0	314	1291	45	1	392	1	ADHFE1	8	67357469	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	8298438	67357469	79006553	189	4656										
COPS5	10987	genome.wustl.edu	37	chr8	67974138	67974138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttcttgctgctgtttcttgtCgtatttgtagatttcatcga	8	7	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:67974138C>T	ENST00000357849.4	-	1	414	c.94G>A	c.(94-96)Gac>Aac	p.D32N	CSPP1_ENST00000262210.5_5'Flank|CSPP1_ENST00000412460.1_5'Flank|COPS5_ENST00000519963.1_5'UTR|AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	32					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTTCTTGTCGTATTTGTAG	0.572																																																	0													164	149	154					8																	67974138		2203	4300	6503	SO:0001583	missense	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.94G>A	8.37:g.67974138C>T	ENSP00000350512:p.Asp32Asn		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.D32N	ENST00000357849.4	37	c.94	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.806641	0.96967	.	.	ENSG00000121022	ENST00000357849	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.62016	1.91	0.80722	D	1	B	0.23249	0.082	B	0.24848	0.056	T	0.63422	-0.6641	9	0.45353	T	0.12	-1.9206	19.1345	0.93420	0.0:1.0:0.0:0.0	.	32	Q92905	CSN5_HUMAN	N	32	.	ENSP00000350512:D32N	D	-	1	0	COPS5	68136692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.566000	0.67372	2.838000	0.97847	0.655000	0.94253	GAC	COPS5	-	NULL		0.572	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	C			67974138	-1	no_errors	ENST00000357849	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67974138	C	T	67974138	3	4	34	1	0	0	0	0	1	0	0	0	3741	884	31	1	942	1	COPS5	8	67974138	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	616669	67974138	78389884	190	4657										
RUNX1T1	862	genome.wustl.edu	37	chr8	92988170	92988170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcctctggcacgtatccagaCgcaggcctgtgaaggaattc	11	12	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:92988170C>T	ENST00000523629.1	-	10	1765	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	RUNX1T1_ENST00000436581.2_Silent_p.A448A|RUNX1T1_ENST00000360348.2_Silent_p.A400A|RUNX1T1_ENST00000518844.1_Silent_p.A410A|RUNX1T1_ENST00000422361.2_Silent_p.A400A|RUNX1T1_ENST00000396218.1_Silent_p.A410A|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000520724.1_Silent_p.A400A|RUNX1T1_ENST00000265814.3_Silent_p.A437A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	437					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A400A(1)|p.A448A(1)|p.A437A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGTATCCAGACGCAGGCCTGT	0.483																																																	3	Substitution - coding silent(3)	large_intestine(3)											123	123	123					8																	92988170		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1311G>A	8.37:g.92988170C>T			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A448	ENST00000523629.1	37	c.1344	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL		0.483	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	C	NM_004349, NM_175635		92988170	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	silent	SNP	0.766	T	T	92988170	C	T	92988170	2	4	34	1	0	0	0	0	0	0	0	1	13777	523	19	2		2	RUNX1T1	8	92988170	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	25014032	92988170	53375852	191	4658										
PDP1	54704	genome.wustl.edu	37	chr8	94934923	94934923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaattgtactttaacagcttGaggacttactggcaagagct	9	7	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:94934923G>C	ENST00000297598.4	+	2	905	c.636G>C	c.(634-636)ttG>ttC	p.L212F	PDP1_ENST00000517764.1_Missense_Mutation_p.L212F|PDP1_ENST00000520728.1_Missense_Mutation_p.L212F|PDP1_ENST00000396200.3_Missense_Mutation_p.L237F	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	212					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTAACAGCTTGAGGACTTACT	0.463																																																	0													113	108	110					8																	94934923		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.636G>C	8.37:g.94934923G>C	ENSP00000297598:p.Leu212Phe		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L237F	ENST00000297598.4	37	c.711	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168163	0.21621	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.16	3.31	0.37934	Protein phosphatase 2C-like (4);	0.139412	0.48767	D	0.000171	T	0.30823	0.0777	L	0.43757	1.38	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05716	-1.0868	10	0.32370	T	0.25	-1.8726	5.0654	0.14580	0.2985:0.0:0.5645:0.137	.	263;212	B4DYX8;Q9P0J1	.;PDP1_HUMAN	F	212;212;237;212;212	ENSP00000297598:L212F;ENSP00000428317:L212F;ENSP00000379503:L237F;ENSP00000430380:L212F	ENSP00000297598:L212F	L	+	3	2	PDP1	95004099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.970000	0.29383	0.421000	0.25980	0.650000	0.86243	TTG	PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	G	NM_018444		94934923	1	no_errors	ENST00000396200	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94934923	G	C	94934923	3	2	34	1	0	0	0	0	1	0	0	0	11709	1281	45	1	819	1	PDP1	8	94934923	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1946753	94934923	51429099	192	4659										
NCALD	83988	genome.wustl.edu	37	chr8	102731654	102731654	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tttgcatcgaaggtgcggaaGacatgctctgcaaatttgga	12	7	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:102731654G>A	ENST00000311028.3	-	5	582	c.204C>T	c.(202-204)gtC>gtT	p.V68V	NCALD_ENST00000395923.1_Silent_p.V68V|NCALD_ENST00000522951.1_Silent_p.V68V|NCALD_ENST00000519508.2_Silent_p.V68V|NCALD_ENST00000521599.1_Silent_p.V68V|NCALD_ENST00000220931.6_Silent_p.V68V	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGGTGCGGAAGACATGCTCTG	0.448																																																	0													149	153	152					8																	102731654		2203	4300	6503	SO:0001819	synonymous_variant	83988			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.204C>T	8.37:g.102731654G>A			P29554|Q8IYC3|Q9H0W2	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.V68	ENST00000311028.3	37	c.204	CCDS6292.1	8																																																																																			NCALD	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.448	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	HGNC	protein_coding	OTTHUMT00000380732.2	G			102731654	-1	no_errors	ENST00000311028	ensembl	human	known	70_37	silent	SNP	1.000	A	A	102731654	G	A	102731654	2	1	34	1	0	0	0	0	0	0	0	1	10225	929	33	1		1	NCALD	8	102731654	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7796731	102731654	43632368	193	4660										
TMEM74	157753	genome.wustl.edu	37	chr8	109796644	109796644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccgcaatcacacagcggtcCaggtgagcccccagcctcgc	10	19	1	1	rs148272291		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:109796644C>T	ENST00000297459.3	-	2	862	c.684G>A	c.(682-684)ctG>ctA	p.L228L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	228					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CACAGCGGTCCAGGTGAGCCC	0.622																																																	0													58	56	57					8																	109796644		2203	4300	6503	SO:0001819	synonymous_variant	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.684G>A	8.37:g.109796644C>T				Silent	SNP	NULL	p.L228	ENST00000297459.3	37	c.684	CCDS6310.1	8																																																																																			TMEM74	-	NULL		0.622	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	C	NM_153015		109796644	-1	no_errors	ENST00000297459	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109796644	C	T	109796644	2	4	34	1	0	0	0	0	0	0	0	1	16232	581	21	4		4	TMEM74	8	109796644	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	7064990	109796644	36567378	194	4661										
TRMT12	55039	genome.wustl.edu	37	chr8	125463244	125463244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgttgtcgcagttgtgactGagccttggtttacccagcga	12	10	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:125463244G>C	ENST00000328599.3	+	1	197	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	26					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTTGTGACTGAGCCTTGGTT	0.517																																																	0													127	132	130					8																	125463244		2203	4300	6503	SO:0001583	missense	55039			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 2"	611244	"tRNA methyltranferase 12 homolog (S. cerevisiae)"			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.76G>C	8.37:g.125463244G>C	ENSP00000329858:p.Glu26Gln		Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.E26Q	ENST00000328599.3	37	c.76	CCDS6349.1	8	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435083	0.62955	.	.	ENSG00000183665	ENST00000328599	T	0.51574	0.7	5.15	5.15	0.70609	.	0.380247	0.28865	N	0.013892	T	0.64627	0.2615	M	0.68952	2.095	0.42869	D	0.994138	D	0.76494	0.999	D	0.66716	0.946	T	0.62959	-0.6743	10	0.41790	T	0.15	-21.0089	14.8493	0.70284	0.0:0.0:1.0:0.0	.	26	Q53H54	TYW2_HUMAN	Q	26	ENSP00000329858:E26Q	ENSP00000329858:E26Q	E	+	1	0	TRMT12	125532425	0.317000	0.24589	0.996000	0.52242	0.568000	0.35870	1.126000	0.31344	2.791000	0.96007	0.561000	0.74099	GAG	TRMT12	-	NULL		0.517	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT12	HGNC	protein_coding	OTTHUMT00000381465.1	G	NM_017956		125463244	1	no_errors	ENST00000328599	ensembl	human	known	70_37	missense	SNP	1.000	C	C	125463244	G	C	125463244	3	2	34	1	0	0	0	0	1	0	0	0	16595	1291	45	1	78	1	TRMT12	8	125463244	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	15666600	125463244	20900778	195	4662										
CYP11B2	1585	genome.wustl.edu	37	chr8	143994795	143994795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggctgcggcggccaggctctCctggcgcaggatctgctgca	16	14	2	0	rs376776280		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:143994795C>T	ENST00000323110.2	-	6	1029	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	343					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCCAGGCTCTCCTGGCGCAGG	0.632									Familial Hyperaldosteronism type I																																								0								C	LYS/GLU	0,4406		0,0,2203	56	62	60		1027	3.7	1	8		60	1,8599		0,1,4299	no	missense	CYP11B2	NM_000498.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	343/504	143994795	1,13005	2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1027G>A	8.37:g.143994795C>T	ENSP00000325822:p.Glu343Lys		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E343K	ENST00000323110.2	37	c.1027	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	17.90	3.503100	0.64298	0.0	1.16E-4	ENSG00000179142	ENST00000323110	D	0.86956	-2.19	3.74	3.74	0.42951	.	0.000000	0.51477	D	0.000098	D	0.95472	0.8529	H	0.97707	4.06	0.36864	D	0.888549	D	0.89917	1.0	D	0.78314	0.991	D	0.98321	1.0528	10	0.87932	D	0	.	13.1433	0.59446	0.0:1.0:0.0:0.0	.	343	P19099	C11B2_HUMAN	K	343	ENSP00000325822:E343K	ENSP00000325822:E343K	E	-	1	0	CYP11B2	143991797	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	3.389000	0.52516	1.920000	0.55613	0.456000	0.33151	GAG	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	C			143994795	-1	no_errors	ENST00000323110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143994795	C	T	143994795	3	4	34	1	0	0	0	0	1	0	0	0	4151	864	30	1	500	1	CYP11B2	8	143994795	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	18531551	143994795	2369227	196	4663										
CYP11B2	1585	genome.wustl.edu	37	chr8	143999174	143999174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccgtcctaggggcccgagcgGctctagtgcccagtgcccgt	14	16	1	0	rs143027239		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:143999174G>T	ENST00000323110.2	-	1	85	c.83C>A	c.(82-84)gCc>gAc	p.A28D		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	28					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCCCGAGCGGCTCTAGTGCC	0.647									Familial Hyperaldosteronism type I																																								0													80	79	79					8																	143999174		2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.83C>A	8.37:g.143999174G>T	ENSP00000325822:p.Ala28Asp		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A28D	ENST00000323110.2	37	c.83	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255321	0.59321	.	.	ENSG00000179142	ENST00000323110	T	0.75477	-0.94	3.48	3.48	0.39840	.	0.405610	0.17615	U	0.167955	T	0.78886	0.4354	L	0.49126	1.545	0.27563	N	0.950111	D	0.69078	0.997	D	0.63957	0.92	T	0.68569	-0.5374	10	0.36615	T	0.2	.	10.6586	0.45690	0.0:0.0:1.0:0.0	.	28	P19099	C11B2_HUMAN	D	28	ENSP00000325822:A28D	ENSP00000325822:A28D	A	-	2	0	CYP11B2	143996176	0.000000	0.05858	0.029000	0.17559	0.010000	0.07245	0.443000	0.21644	1.950000	0.56595	0.655000	0.94253	GCC	CYP11B2	-	NULL		0.647	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	G			143999174	-1	no_errors	ENST00000323110	ensembl	human	known	70_37	missense	SNP	0.593	T	T	143999174	G	T	143999174	3	4	34	1	0	0	0	0	1	0	0	0	4151	1203	42	4	1464	4	CYP11B2	8	143999174	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4379	143999174	2364848	197	4664										
ARHGAP39	80728	genome.wustl.edu	37	chr8	145772651	145772651	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctcctgctgggccagcgcctCgtcctcgctgaaggcccgca	12	18	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:145772651C>G	ENST00000276826.5	-	4	2020	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607Q|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	607					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCAGCGCCTCGTCCTCGCTG	0.687																																																	0													29	23	25					8																	145772651		2201	4299	6500	SO:0001583	missense	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1819G>C	8.37:g.145772651C>G	ENSP00000276826:p.Glu607Gln		B4E1I1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.E607Q	ENST00000276826.5	37	c.1819		8	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910423	0.52439	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70045	-0.45;-0.18;-0.45	5.05	5.05	0.67936	.	0.168491	0.51477	D	0.000088	T	0.77198	0.4095	L	0.53249	1.67	0.36296	D	0.856712	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	T	0.77983	-0.2382	10	0.26408	T	0.33	-16.4834	15.8849	0.79238	0.0:1.0:0.0:0.0	.	607;607	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	Q	607	ENSP00000276826:E607Q;ENSP00000366522:E607Q;ENSP00000445075:E607Q	ENSP00000276826:E607Q	E	-	1	0	ARHGAP39	145743459	1.000000	0.71417	0.854000	0.33618	0.518000	0.34316	4.804000	0.62554	2.348000	0.79779	0.655000	0.94253	GAG	ARHGAP39	-	NULL		0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	C			145772651	-1	no_errors	ENST00000377307	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145772651	C	G	145772651	3	3	34	1	0	0	0	0	1	0	0	0	884	893	31	1	1557	1	ARHGAP39	8	145772651	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1773477	145772651	591371	198	4665										
JAK2	3717	genome.wustl.edu	37	chr9	5123014	5123014	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atatttacaggtatgctccaGaatcactgacagagagcaag	9	8	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:5123014G>T	ENST00000381652.3	+	23	3564	c.3070G>T	c.(3070-3072)Gaa>Taa	p.E1024*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.E1024*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.E875*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1024	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GTATGCTCCAGAATCACTGAC	0.338		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													107	105	105					9																	5123014		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3070G>T	9.37:g.5123014G>T	ENSP00000371067:p.Glu1024*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1024*	ENST00000381652.3	37	c.3070	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	44	10.678582	0.99448	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.8501	19.4303	0.94760	0.0:0.0:1.0:0.0	.	.	.	.	X	1024;1024;875	.	ENSP00000371067:E1024X	E	+	1	0	JAK2	5113014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.459000	0.97638	2.579000	0.87056	0.650000	0.86243	GAA	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5123014	1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	5123014	G	T	5123014	4	4	34	1	0	0	0	0	0	1	0	0	7958	943	33	3	3152	3	JAK2	9	5123014	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		5123014	136090417	199	4666										
PTPRD	5789	genome.wustl.edu	37	chr9	8484375	8484375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cattttcccatcatcataaaGaatctaaagagataaaacca	3	9	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:8484375G>A	ENST00000381196.4	-	27	3700	c.3157C>T	c.(3157-3159)Ctt>Ttt	p.L1053F	PTPRD_ENST00000356435.5_Missense_Mutation_p.L1053F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L632F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L639F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L639F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1040F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L632F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1031F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L642F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L642F|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1053F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1053	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1053I(2)|p.L1053V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATCATAAAGAATCTAAAGA	0.338										TSP Lung(15;0.13)																																							3	Substitution - Missense(3)	large_intestine(2)|NS(1)											47	47	47					9																	8484375		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3157C>T	9.37:g.8484375G>A	ENSP00000370593:p.Leu1053Phe		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.L1053F	ENST00000381196.4	37	c.3157	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278230	0.59758	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.46157	1.445	0.80722	D	1	P;D;P;P;B;P;B;D;P	0.65815	0.828;0.995;0.887;0.824;0.149;0.892;0.419;0.991;0.679	B;D;B;B;B;P;B;P;P	0.70487	0.37;0.969;0.271;0.308;0.111;0.574;0.142;0.889;0.522	T	0.62172	-0.6910	9	.	.	.	.	19.7266	0.96166	0.0:0.0:1.0:0.0	.	632;637;642;642;639;639;1040;1053;1053	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1053;1053;1040;1031;642;632;639;639;1053;642;632	ENSP00000370593:L1053F;ENSP00000348812:L1053F;ENSP00000353187:L1040F;ENSP00000351293:L1031F;ENSP00000347373:L642F;ENSP00000380741:L632F;ENSP00000380735:L639F;ENSP00000440515:L639F;ENSP00000438164:L1053F;ENSP00000417093:L642F;ENSP00000380731:L632F	.	L	-	1	0	PTPRD	8474375	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.439000	0.97543	2.757000	0.94681	0.563000	0.77884	CTT	PTPRD	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.338	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8484375	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8484375	G	A	8484375	3	1	34	1	0	0	0	0	1	0	0	0	12829	942	33	1	2714	1	PTPRD	9	8484375	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3361361	8484375	132729056	200	4667										
FRMPD1	22844	genome.wustl.edu	37	chr9	37746462	37746462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gagctgtcggcatgtgatcaGaatggaccagtcccccgaag	13	11	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:37746462G>A	ENST00000539465.1	+	16	5026	c.4433G>A	c.(4432-4434)aGa>aAa	p.R1478K	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1478K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1478						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CATGTGATCAGAATGGACCAG	0.607																																																	0													30	33	32					9																	37746462		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4433G>A	9.37:g.37746462G>A	ENSP00000444411:p.Arg1478Lys		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.R1478K	ENST00000539465.1	37	c.4433	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276458	0.23307	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	5.53	3.34	0.38264	.	0.218491	0.47852	N	0.000212	T	0.03608	0.0103	N	0.11201	0.11	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35525	-0.9785	10	0.08381	T	0.77	-11.9701	7.385	0.26878	0.2761:0.0:0.7239:0.0	.	1478	Q5SYB0	FRPD1_HUMAN	K	1478	ENSP00000366995:R1478K;ENSP00000444411:R1478K	ENSP00000366995:R1478K	R	+	2	0	FRMPD1	37736462	0.989000	0.36119	0.998000	0.56505	0.915000	0.54546	3.014000	0.49590	1.245000	0.43885	-0.345000	0.07892	AGA	FRMPD1	-	NULL		0.607	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	G	NM_014907		37746462	1	no_errors	ENST00000377765	ensembl	human	known	70_37	missense	SNP	0.998	A	A	37746462	G	A	37746462	3	1	34	1	0	0	0	0	1	0	0	0	6075	942	33	1	4491	1	FRMPD1	9	37746462	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	29262087	37746462	103466969	201	4668										
FLJ46321	389763	genome.wustl.edu	37	chr9	84609460	84609460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatggatgaagacctctttgCagtggtttaataaacccagc	9	8	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:84609460C>G	ENST00000344803.2	+	4	4122	c.4075C>G	c.(4075-4077)Cag>Gag	p.Q1359E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1359					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACCTCTTTGCAGTGGTTTAA	0.438																																																	0													27	24	25					9																	84609460		1847	4076	5923	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4075C>G	9.37:g.84609460C>G	ENSP00000341988:p.Gln1359Glu			Missense_Mutation	SNP	NULL	p.Q1359E	ENST00000344803.2	37	c.4075	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872268	0.17322	.	.	ENSG00000214929	ENST00000344803	T	0.14893	2.47	3.23	2.31	0.28768	.	.	.	.	.	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.52554	0.702	T	0.09729	-1.0661	9	0.38643	T	0.18	-0.1371	7.8032	0.29187	0.2481:0.7519:0.0:0.0	.	1359	Q6ZQQ2	F75D1_HUMAN	E	1359	ENSP00000341988:Q1359E	ENSP00000341988:Q1359E	Q	+	1	0	FAM75D1	83799280	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	0.777000	0.26718	0.909000	0.36697	0.655000	0.94253	CAG	SPATA31D1	-	NULL		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		84609460	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.006	G	G	84609460	C	G	84609460	3	3	34	1	0	0	0	0	1	0	0	0	5950	711	25	4	4089	4	FLJ46321	9	84609460	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	46862998	84609460	56603971	202	4669										
OR13C3	138803	genome.wustl.edu	37	chr9	107298423	107298423	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcaccatggtgataatattGagggatatatcagcacaggc	10	7	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:107298423G>C	ENST00000374781.2	-	1	714	c.672C>G	c.(670-672)ctC>ctG	p.L224L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGATAATATTGAGGGATATAT	0.393																																					GBM(86;1248 1274 14222 15028 46219)												0													99	99	99					9																	107298423		2203	4300	6503	SO:0001819	synonymous_variant	138803				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.672C>G	9.37:g.107298423G>C			Q5VVG1|Q6IF52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L224	ENST00000374781.2	37	c.672	CCDS35089.1	9																																																																																			OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.393	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	G			107298423	-1	no_errors	ENST00000374781	ensembl	human	known	70_37	silent	SNP	0.033	C	C	107298423	G	C	107298423	2	2	34	1	0	0	0	0	0	0	0	1	10959	1277	45	1		1	OR13C3	9	107298423	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	22688963	107298423	33915008	203	4670										
ZNF483	158399	genome.wustl.edu	37	chr9	114290024	114290024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tttgggtaaagtcacaacatCctgagagtagtgaggaagtg	13	5	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:114290024C>T	ENST00000309235.5	+	2	507	c.349C>T	c.(349-351)Cct>Tct	p.P117S	ZNF483_ENST00000355824.3_Missense_Mutation_p.P117S|ZNF483_ENST00000358151.4_Missense_Mutation_p.P117S|ZNF483_ENST00000374374.3_Missense_Mutation_p.P117S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	117	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTCACAACATCCTGAGAGTAG	0.443																																																	0													97	100	99					9																	114290024		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.349C>T	9.37:g.114290024C>T	ENSP00000311679:p.Pro117Ser		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P117S	ENST00000309235.5	37	c.349	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933794	0.52866	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000374374;ENST00000309235	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.55	5.55	0.83447	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44097	D	0.000498	T	0.39860	0.1094	H	0.94345	3.525	0.29744	N	0.83686	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.52283	-0.8596	10	0.42905	T	0.14	-23.9655	15.3797	0.74645	0.0:1.0:0.0:0.0	.	117;117;117;117	Q6P088;Q5VZN3;Q8NAE1;Q8TF39	.;.;.;ZN483_HUMAN	S	117	ENSP00000350871:P117S;ENSP00000438048:P117S;ENSP00000363494:P117S;ENSP00000311679:P117S	ENSP00000311679:P117S	P	+	1	0	ZNF483	113329845	0.032000	0.19561	0.219000	0.23793	0.508000	0.34012	1.420000	0.34804	2.777000	0.95525	0.609000	0.83330	CCT	ZNF483	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.443	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	C	XM_088567		114290024	1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	0.512	T	T	114290024	C	T	114290024	3	4	34	1	0	0	0	0	1	0	0	0	17966	855	30	1	351	1	ZNF483	9	114290024	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6991601	114290024	26923407	204	4671										
AKNA	80709	genome.wustl.edu	37	chr9	117139085	117139085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cggccagccagagtggctccCtgtctgggcagcggcctgcc	15	16	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:117139085C>T	ENST00000307564.4	-	3	1163	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	AKNA_ENST00000374088.3_Silent_p.Q334Q|AKNA_ENST00000312033.3_Silent_p.Q334Q|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Silent_p.Q253Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	334					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAGTGGCTCCCTGTCTGGGCA	0.642																																																	0													23	25	24					9																	117139085		2203	4298	6501	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1002G>A	9.37:g.117139085C>T			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	pfam_TF_AT-hook	p.Q334	ENST00000307564.4	37	c.1002	CCDS6805.1	9																																																																																			AKNA	-	NULL		0.642	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117139085	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	silent	SNP	0.092	T	T	117139085	C	T	117139085	2	4	34	1	0	0	0	0	0	0	0	1	463	680	24	4		4	AKNA	9	117139085	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2849061	117139085	24074346	205	4672										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123202153	123202153	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaaggctgactcttggaactCaggtaagtagctactgaagt	12	7	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:123202153C>T	ENST00000349780.4	-	24	3425	c.3246G>A	c.(3244-3246)ctG>ctA	p.L1082L	CDK5RAP2_ENST00000359309.3_Silent_p.L1041L|CDK5RAP2_ENST00000360822.3_Silent_p.L1050L|CDK5RAP2_ENST00000360190.4_Silent_p.L1082L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1082	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTTGGAACTCAGGTAAGTAG	0.438																																																	0													81	76	78					9																	123202153		2203	4300	6503	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3246G>A	9.37:g.123202153C>T			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.L1082	ENST00000349780.4	37	c.3246	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL		0.438	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123202153	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	silent	SNP	0.305	T	T	123202153	C	T	123202153	2	4	34	1	0	0	0	0	0	0	0	1	3151	813	29	1		1	CDK5RAP2	9	123202153	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6063068	123202153	18011278	206	4673										
OR1L3	26735	genome.wustl.edu	37	chr9	125437562	125437562	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcatcttggctatccactctGatcctcgacttcaaaaccct	4	15	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:125437562G>A	ENST00000304820.2	+	1	248	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TATCCACTCTGATCCTCGACT	0.433																																																	0													162	155	158					9																	125437562		2203	4300	6503	SO:0001583	missense	26735				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"GPCR / Class A : Olfactory receptors"	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.154G>A	9.37:g.125437562G>A	ENSP00000302863:p.Asp52Asn		B2RNF4|Q6IFN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D52N	ENST00000304820.2	37	c.154	CCDS35128.1	9	.	.	.	.	.	.	.	.	.	.	G	6.531	0.466278	0.12402	.	.	ENSG00000171481	ENST00000304820	T	0.02837	4.14	4.54	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.171811	0.26307	U	0.025125	T	0.04452	0.0122	M	0.75777	2.31	0.09310	N	1	B	0.20164	0.042	B	0.22152	0.038	T	0.32214	-0.9915	10	0.66056	D	0.02	-0.4576	4.3174	0.11000	0.0861:0.1579:0.5924:0.1636	.	52	Q8NH93	OR1L3_HUMAN	N	52	ENSP00000302863:D52N	ENSP00000302863:D52N	D	+	1	0	OR1L3	124477383	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.210000	0.17455	0.653000	0.30826	0.644000	0.83932	GAT	OR1L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.433	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L3	HGNC	protein_coding	OTTHUMT00000053950.1	G			125437562	1	no_errors	ENST00000304820	ensembl	human	known	70_37	missense	SNP	0.000	A	A	125437562	G	A	125437562	3	1	34	1	0	0	0	0	1	0	0	0	10988	1290	45	1	156	1	OR1L3	9	125437562	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2235409	125437562	15775869	207	4674										
RABGAP1	23637	genome.wustl.edu	37	chr9	125777841	125777841	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gataatgatgaacctctcctGagtggatctggtgatgtatc	11	7	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:125777841G>C	ENST00000373647.4	+	12	1703	c.1569G>C	c.(1567-1569)ctG>ctC	p.L523L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	523					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AACCTCTCCTGAGTGGATCTG	0.348																																																	0													94	94	94					9																	125777841		2203	4300	6503	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1569G>C	9.37:g.125777841G>C			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.L523	ENST00000373647.4	37	c.1569	CCDS6848.2	9																																																																																			RABGAP1	-	NULL		0.348	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	G	NM_012197		125777841	1	no_errors	ENST00000373647	ensembl	human	known	70_37	silent	SNP	1.000	C	C	125777841	G	C	125777841	2	2	34	1	0	0	0	0	0	0	0	1	12994	1277	45	1		1	RABGAP1	9	125777841	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	340279	125777841	15435590	208	4675										
AIF1L	83543	genome.wustl.edu	37	chr9	133981650	133981650	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcttgctggctctgctgtttCaggcaagttagttaacctga	11	9	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:133981650C>T	ENST00000247291.3	+	3	181				AIF1L_ENST00000372298.1_Intron|AIF1L_ENST00000372297.2_Intron|AIF1L_ENST00000372312.3_Intron|AIF1L_ENST00000372300.1_Intron|AIF1L_ENST00000372302.1_Intron|AIF1L_ENST00000472942.1_Intron|AIF1L_ENST00000372309.3_Nonsense_Mutation_p.Q57*	NM_031426.3	NP_113614.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like							actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)	2						tctgctgtttcaggcaagtta	0.527																																					Esophageal Squamous(95;611 1423 5044 34794 42333)												0																																										SO:0001627	intron_variant	83543			AL136566	CCDS6939.1, CCDS55348.1, CCDS55349.1	9q34.13-q34.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000126878	ENSG00000126878		"EF-hand domain containing"	28904	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 58"	C9orf58		11230166	Standard	NM_001185095		Approved	IBA2, FLJ12783	uc004cad.2	Q9BQI0	OTTHUMG00000020817	ENST00000247291.3:c.94-5334C>T	9.37:g.133981650C>T			B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.Q57*	ENST00000247291.3	37	c.169	CCDS6939.1	9	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448199	0.43429	.	.	ENSG00000126878	ENST00000372309	.	.	.	2.46	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	0.1245	0.00068	0.2864:0.1563:0.1969:0.3604	.	.	.	.	X	57	.	ENSP00000361383:Q57X	Q	+	1	0	AIF1L	132971471	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.099000	0.15210	-0.462000	0.06984	-1.497000	0.00963	CAG	AIF1L	-	NULL		0.527	AIF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIF1L	HGNC	protein_coding	OTTHUMT00000054703.2	C	NM_031426		133981650	1	no_errors	ENST00000372309	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	133981650	C	T	133981650	1	4	34	0	1	0	0	0	0	0	0	0	425	827	29	1		1	AIF1L	9	133981650	Intron	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	8203809	133981650	7231781	209	4676										
DPP7	29952	genome.wustl.edu	37	chr9	140006564	140006564	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggccacccacacccccacacCtggtagtcccaggccctggc	9	21	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:140006564C>T	ENST00000371579.2	-	9	1054	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	350						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		ACCCCCACACCTGGTAGTCCC	0.697																																																	0													36	41	39					9																	140006564		2198	4298	6496	SO:0001630	splice_region_variant	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1050+1G>A	9.37:g.140006564C>T			A8K7U7|Q5VSF1|Q969X4	Silent	SNP	pfam_Peptidase_S28,pfam_AB_hydrolase_1	p.Q350	ENST00000371579.2	37	c.1050	CCDS7030.1	9																																																																																			DPP7	-	pfam_Peptidase_S28		0.697	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP7	HGNC	protein_coding	OTTHUMT00000055279.1	C	NM_013379	Silent	140006564	-1	no_errors	ENST00000371579	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140006564	C	T	140006564	5	4	34	1	0	0	0	0	0	0	1	0	4741	695	24	4	448	4	DPP7	9	140006564	Splice_Site	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6024914	140006564	1206867	210	4677										
C9orf167	54863	genome.wustl.edu	37	chr9	140173663	140173663	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtatcgcgcatcgtggcgctGatgcgggactacctggccac	14	13	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:140173663G>C	ENST00000357503.2	+	2	718	c.522G>C	c.(520-522)ctG>ctC	p.L174L		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	174					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										TCGTGGCGCTGATGCGGGACT	0.697																																																	0													8	8	8					9																	140173663		2155	4239	6394	SO:0001819	synonymous_variant	54863			AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.522G>C	9.37:g.140173663G>C			A2BFA4	Silent	SNP	pfam_Torsin,smart_AAA+_ATPase	p.L174	ENST00000357503.2	37	c.522	CCDS7041.1	9																																																																																			TOR4A	-	pfam_Torsin		0.697	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	HGNC	protein_coding	OTTHUMT00000254711.1	G	NM_017723		140173663	1	no_errors	ENST00000357503	ensembl	human	known	70_37	silent	SNP	1.000	C	C	140173663	G	C	140173663	2	2	34	1	0	0	0	0	0	0	0	1	2473	1277	45	1		1	C9orf167	9	140173663	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	167099	140173663	1039768	211	4678										
C10orf18	54906	genome.wustl.edu	37	chr10	5788653	5788653	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	taagcaagtatcacctgctgCaagccttagacatcctgtat	7	11	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:5788653C>G	ENST00000328090.5	+	15	3894	c.3269C>G	c.(3268-3270)gCa>gGa	p.A1090G	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1090																	TCACCTGCTGCAAGCCTTAGA	0.443																																																	0													117	110	112					10																	5788653		1989	4177	6166	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3269C>G	10.37:g.5788653C>G	ENSP00000328426:p.Ala1090Gly		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.A1090G	ENST00000328090.5	37	c.3269	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	5.199	0.222188	0.09863	.	.	ENSG00000108021	ENST00000328090	T	0.04551	3.6	5.55	-0.491	0.12045	.	1.732790	0.02739	N	0.116070	T	0.04907	0.0132	L	0.40543	1.245	0.09310	N	1	B	0.33413	0.411	B	0.31946	0.138	T	0.34825	-0.9813	10	0.42905	T	0.14	.	2.5806	0.04817	0.1375:0.5038:0.1219:0.2368	.	1090	Q5VWN6	F208B_HUMAN	G	1090	ENSP00000328426:A1090G	ENSP00000328426:A1090G	A	+	2	0	C10orf18	5828659	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.125000	0.10579	0.016000	0.14998	0.655000	0.94253	GCA	FAM208B	-	pfam_DUF3699		0.443	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5788653	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	G	G	5788653	C	G	5788653	3	3	34	1	0	0	0	0	1	0	0	0	1600	710	25	4	3315	4	C10orf18	10	5788653	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		5788653	129746094	212	4679										
C10orf18	54906	genome.wustl.edu	37	chr10	5791870	5791870	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcctcctatgaagacataatCatagacgtgtgcaccaattt	7	10	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:5791870C>T	ENST00000328090.5	+	15	7111	c.6486C>T	c.(6484-6486)atC>atT	p.I2162I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2162																	AAGACATAATCATAGACGTGT	0.423																																																	0													62	58	59					10																	5791870		1924	4144	6068	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6486C>T	10.37:g.5791870C>T			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.I2162	ENST00000328090.5	37	c.6486	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.423	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5791870	1	no_errors	ENST00000328090	ensembl	human	known	70_37	silent	SNP	0.931	T	T	5791870	C	T	5791870	2	4	34	1	0	0	0	0	0	0	0	1	1600	816	29	1		1	C10orf18	10	5791870	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3217	5791870	129742877	213	4680										
BMI1	648	genome.wustl.edu	37	chr10	22618360	22618360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccacagtttcctcacatttcCagtactatgaatggaaccag	6	12	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:22618360C>T	ENST00000376663.3	+	10	1375	c.870C>T	c.(868-870)tcC>tcT	p.S290S	COMMD3-BMI1_ENST00000602390.1_Silent_p.S433S|RP11-573G6.9_ENST00000606988.1_lincRNA	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	290	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CTCACATTTCCAGTACTATGA	0.493																																																	0													160	146	151					10																	22618360		2203	4300	6503	SO:0001819	synonymous_variant	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.870C>T	10.37:g.22618360C>T			Q16030|Q5T8Z3|Q96F37	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S290	ENST00000376663.3	37	c.870	CCDS7138.1	10																																																																																			BMI1	-	NULL		0.493	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	C	NM_005180		22618360	1	no_errors	ENST00000376663	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22618360	C	T	22618360	2	4	34	1	0	0	0	0	0	0	0	1	1456	581	21	4		4	BMI1	10	22618360	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	16826490	22618360	112916387	214	4681										
LYZL2	119180	genome.wustl.edu	37	chr10	30900895	30900895	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agttccagtttaggaaacctCacagtcttttttccagtcgg	8	10	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:30900895C>A	ENST00000375318.2	-	5	630	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	146					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TAGGAAACCTCACAGTCTTTT	0.522																																																	0													301	277	285					10																	30900895		2203	4300	6503	SO:0001587	stop_gained	119180			AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.574G>T	10.37:g.30900895C>A	ENSP00000364467:p.Glu192*		Q6NZ69	Nonsense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.E192*	ENST00000375318.2	37	c.574	CCDS7167.2	10	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383942	0.25031	.	.	ENSG00000151033	ENST00000375318	.	.	.	1.9	1.9	0.25705	.	0.675597	0.14192	N	0.335285	.	.	.	.	.	.	0.27652	N	0.94738	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-10.9784	7.3004	0.26418	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000364467:E192X	E	-	1	0	LYZL2	30940901	0.936000	0.31750	0.766000	0.31476	0.075000	0.17131	1.233000	0.32648	1.360000	0.45960	0.313000	0.20887	GAG	LYZL2	-	superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22		0.522	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL2	HGNC	protein_coding	OTTHUMT00000047434.1	C	NM_183058		30900895	-1	no_errors	ENST00000375318	ensembl	human	known	70_37	nonsense	SNP	0.895	A	A	30900895	C	A	30900895	4	1	34	1	0	0	0	0	0	1	0	0	9155	835	29	3	14	3	LYZL2	10	30900895	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	8282535	30900895	104633852	215	4682										
ITGB1	3688	genome.wustl.edu	37	chr10	33199333	33199333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aataggaacattcctgtgtgCatgtgtctttcttttctcct	7	9	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:33199333C>T	ENST00000396033.2	-	14	2117	c.1982G>A	c.(1981-1983)tGc>tAc	p.C661Y	ITGB1_ENST00000302278.3_Missense_Mutation_p.C661Y|ITGB1_ENST00000423113.1_Missense_Mutation_p.C661Y|ITGB1_ENST00000374956.4_Missense_Mutation_p.C661Y	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	661					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTCCTGTGTGCATGTGTCTTT	0.373																																																	0													49	51	51					10																	33199333		2203	4297	6500	SO:0001583	missense	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1982G>A	10.37:g.33199333C>T	ENSP00000379350:p.Cys661Tyr		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.C661Y	ENST00000396033.2	37	c.1982	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456651	0.84317	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.64	5.64	0.86602	Integrin beta subunit, tail (2);	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.986;0.996;0.991	D	0.98934	1.0788	10	0.87932	D	0	.	19.7116	0.96098	0.0:1.0:0.0:0.0	.	661;661;661;661;661	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	Y	661	ENSP00000379350:C661Y;ENSP00000388694:C661Y;ENSP00000303351:C661Y;ENSP00000364094:C661Y	ENSP00000303351:C661Y	C	-	2	0	ITGB1	33239339	1.000000	0.71417	0.925000	0.36789	0.880000	0.50808	7.818000	0.86416	2.673000	0.90976	0.555000	0.69702	TGC	ITGB1	-	pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu		0.373	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	C	NM_002211		33199333	-1	no_errors	ENST00000374956	ensembl	human	known	70_37	missense	SNP	0.999	T	T	33199333	C	T	33199333	3	4	34	1	0	0	0	0	1	0	0	0	7910	710	25	4	664	4	ITGB1	10	33199333	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2298438	33199333	102335414	216	4683										
DNA2	1763	genome.wustl.edu	37	chr10	70225560	70225560	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tagcatttggcgtgtggctgGatcagagctctacaaaagca	12	8	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:70225560G>C	ENST00000358410.3	-	4	501	c.451C>G	c.(451-453)Cca>Gca	p.P151A	DNA2_ENST00000399180.2_Missense_Mutation_p.P237A|DNA2_ENST00000399179.2_Missense_Mutation_p.P151A	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	151	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CGTGTGGCTGGATCAGAGCTC	0.363																																																	0													59	56	57					10																	70225560		1868	4107	5975	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.451C>G	10.37:g.70225560G>C	ENSP00000351185:p.Pro151Ala		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N	p.P237A	ENST00000358410.3	37	c.709		10	.	.	.	.	.	.	.	.	.	.	G	4.897	0.166676	0.09339	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93659	-2.75;-3.26;-2.73	5.8	-1.71	0.08133	DNA replication factor Dna2 (1);	0.868924	0.10275	N	0.694278	T	0.81211	0.4775	N	0.11789	0.175	0.09310	N	1	B;B	0.15930	0.015;0.013	B;B	0.15484	0.013;0.012	T	0.67814	-0.5573	10	0.09338	T	0.73	.	4.8203	0.13387	0.4853:0.0:0.2744:0.2402	.	151;151	F8VR31;P51530	.;DNA2L_HUMAN	A	151;237;151;151	ENSP00000382133:P237A;ENSP00000382132:P151A;ENSP00000351185:P151A	ENSP00000351185:P151A	P	-	1	0	DNA2	69895566	0.001000	0.12720	0.935000	0.37517	0.942000	0.58702	0.091000	0.15046	-0.115000	0.11915	0.585000	0.79938	CCA	DNA2	-	pfam_DNA_replication_fac_Dna2_N		0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	G			70225560	-1	no_errors	ENST00000399180	ensembl	human	known	70_37	missense	SNP	0.018	C	C	70225560	G	C	70225560	3	2	34	1	0	0	0	0	1	0	0	0	4606	1174	41	1	2803	1	DNA2	10	70225560	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	37026227	70225560	65309187	217	4684										
WAPAL	23063	genome.wustl.edu	37	chr10	88259793	88259793	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agtcttagaagttgcaatatCtgccttttttctgagacgac	8	8	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:88259793C>G	ENST00000298767.5	-	3	1679	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	403	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTTGCAATATCTGCCTTTTTT	0.383																																																	0													56	58	58					10																	88259793		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1207G>C	10.37:g.88259793C>G	ENSP00000298767:p.Asp403His		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.D488H	ENST00000298767.5	37	c.1462	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265133	0.59431	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.34667	1.35	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.927;0.927;0.988	T	0.57940	-0.7724	10	0.62326	D	0.03	.	19.46	0.94914	0.0:1.0:0.0:0.0	.	403;403;446	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	H	488;403;488	ENSP00000298767:D403H	ENSP00000298767:D403H	D	-	1	0	WAPAL	88249773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.601000	0.87937	0.650000	0.86243	GAT	WAPAL	-	NULL		0.383	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	C	NM_015045		88259793	-1	no_errors	ENST00000342368	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88259793	C	G	88259793	3	3	34	1	0	0	0	0	1	0	0	0	17279	913	32	1	2433	1	WAPAL	10	88259793	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	18034233	88259793	47274954	218	4685										
LDB3	11155	genome.wustl.edu	37	chr10	88441244	88441244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggcacccagccccagccctGaggcgagggccagcccaggc	14	18	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:88441244G>C	ENST00000361373.4	+	4	394	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.E125Q|LDB3_ENST00000542786.1_Missense_Mutation_p.E125Q|LDB3_ENST00000429277.2_Missense_Mutation_p.E125Q|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.E125Q	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCCAGCCCTGAGGCGAGGGC	0.706																																																	0													37	41	40					10																	88441244		2202	4295	6497	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.373G>C	10.37:g.88441244G>C	ENSP00000355296:p.Glu125Gln			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E125Q	ENST00000361373.4	37	c.373	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228580	0.06022	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.51574	0.9;1.13;1.29;0.7;1.3	4.89	1.97	0.26223	.	.	.	.	.	T	0.31857	0.0810	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.33583	0.047;0.27;0.418;0.047;0.045	B;B;B;B;B	0.33690	0.017;0.168;0.138;0.027;0.019	T	0.14227	-1.0480	9	0.25751	T	0.34	.	8.598	0.33727	0.3754:0.0:0.6246:0.0	.	125;125;125;125;125	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	Q	125	ENSP00000401437:E125Q;ENSP00000361126:E125Q;ENSP00000311913:E125Q;ENSP00000355296:E125Q;ENSP00000438866:E125Q	ENSP00000311913:E125Q	E	+	1	0	LDB3	88431224	0.894000	0.30519	0.461000	0.27105	0.184000	0.23303	0.831000	0.27476	0.579000	0.29504	0.563000	0.77884	GAG	LDB3	-	NULL		0.706	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	G			88441244	1	no_errors	ENST00000429277	ensembl	human	known	70_37	missense	SNP	0.094	C	C	88441244	G	C	88441244	3	2	34	1	0	0	0	0	1	0	0	0	8717	1291	45	1	387	1	LDB3	10	88441244	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	181451	88441244	47093503	219	4686										
C10orf116	10974	genome.wustl.edu	37	chr10	88729991	88729991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcggcagctcagcaagtggtGgaccaggccacagaggcggg	18	11	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:88729991G>A	ENST00000372013.3	+	2	449	c.96G>A	c.(94-96)gtG>gtA	p.V32V	RP11-96C23.5_ENST00000433214.2_RNA|ADIRF-AS1_ENST00000418273.2_RNA|ADIRF-AS1_ENST00000609111.1_RNA|RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000440490.1_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor	32					cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											AGCAAGTGGTGGACCAGGCCA	0.672																																																	0													20	25	23					10																	88729991		2166	4248	6414	SO:0001819	synonymous_variant	10974			BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"adipose specific 2", "adipose most abundant gene transcript 2", "adipogenesis factor rich in obesity"		"chromosome 10 open reading frame 116"	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.96G>A	10.37:g.88729991G>A				Silent	SNP	NULL	p.V32	ENST00000372013.3	37	c.96	CCDS7381.1	10																																																																																			C10orf116	-	NULL		0.672	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf116	HGNC	protein_coding	OTTHUMT00000049194.1	G	NM_006829		88729991	1	no_errors	ENST00000372013	ensembl	human	known	70_37	silent	SNP	0.997	A	A	88729991	G	A	88729991	2	1	34	1	0	0	0	0	0	0	0	1	1590	1335	47	4		4	C10orf116	10	88729991	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	288747	88729991	46804756	220	4687										
FAS	355	genome.wustl.edu	37	chr10	90774013	90774013	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acaatgtccaagacacagcaGaacagaaagttcaactgctt	7	10	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:90774013G>C	ENST00000355740.2	+	9	1034	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q	FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.E251Q	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	AGACACAGCAGAACAGAAAGT	0.368																																																	0			GRCh37	CM994524	FAS	M							126	117	120					10																	90774013		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.814G>C	10.37:g.90774013G>C	ENSP00000347979:p.Glu272Gln		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.E272Q	ENST00000355740.2	37	c.814	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488717	0.44249	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.96073	-3.9;-3.9	4.65	4.65	0.58169	Death (3);DEATH-like (2);	.	.	.	.	D	0.97526	0.9190	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97817	1.0254	9	0.72032	D	0.01	-39.7131	13.767	0.63002	0.0:0.0:1.0:0.0	.	251;272	P25445-6;P25445	.;TNR6_HUMAN	Q	299;272;251	ENSP00000347979:E272Q;ENSP00000349896:E251Q	ENSP00000347979:E272Q	E	+	1	0	FAS	90763993	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	4.738000	0.62073	2.523000	0.85059	0.650000	0.86243	GAA	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.368	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90774013	1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90774013	G	C	90774013	3	2	34	1	0	0	0	0	1	0	0	0	5699	943	33	1	848	1	FAS	10	90774013	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2044022	90774013	44760734	221	4688										
CPEB3	22849	genome.wustl.edu	37	chr10	93999172	93999172	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tccatccaggacttggaagtGagaggggccgcgcgagggaa	17	9	0	1	rs143190536		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:93999172G>C	ENST00000265997.4	-	2	1108	c.936C>G	c.(934-936)ctC>ctG	p.L312L	CPEB3_ENST00000412050.4_Silent_p.L312L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	312					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACTTGGAAGTGAGAGGGGCCG	0.572																																																	0													40	38	39					10																	93999172		2203	4300	6503	SO:0001819	synonymous_variant	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.936C>G	10.37:g.93999172G>C			Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L312	ENST00000265997.4	37	c.936	CCDS31246.1	10																																																																																			CPEB3	-	NULL		0.572	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	G	NM_014912		93999172	-1	no_errors	ENST00000265997	ensembl	human	known	70_37	silent	SNP	1.000	C	C	93999172	G	C	93999172	2	2	34	1	0	0	0	0	0	0	0	1	3807	1277	45	1		1	CPEB3	10	93999172	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3225159	93999172	41535575	222	4689										
MMS19	64210	genome.wustl.edu	37	chr10	99220675	99220675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	actccttacccagagaagaaGagtgaaggcctgactacgac	10	11	0	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:99220675G>C	ENST00000438925.2	-	24	2736	c.2401C>G	c.(2401-2403)Ctt>Gtt	p.L801V	MMS19_ENST00000355839.6_Missense_Mutation_p.L758V|MMS19_ENST00000370782.2_Missense_Mutation_p.L801V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.L703V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	801					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CAGAGAAGAAGAGTGAAGGCC	0.498								Direct reversal of damage																																									0													37	35	36					10																	99220675		2203	4297	6500	SO:0001583	missense	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2401C>G	10.37:g.99220675G>C	ENSP00000412698:p.Leu801Val		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.L801V	ENST00000438925.2	37	c.2401	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781787	0.49891	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839	T;T;T;T	0.65549	1.55;1.55;-0.16;1.55	5.66	-0.315	0.12746	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.64404	1.975	0.80722	D	1	P;D;D;B;D	0.89917	0.911;1.0;1.0;0.264;0.966	B;D;D;B;P	0.76071	0.288;0.987;0.987;0.119;0.571	T	0.65553	-0.6140	10	0.12766	T	0.61	.	11.245	0.48991	0.4024:0.0:0.5976:0.0	.	822;703;758;801;758	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.;.;.;MMS19_HUMAN;.	V	801;801;703;780;758	ENSP00000412698:L801V;ENSP00000359818:L801V;ENSP00000320059:L703V;ENSP00000348097:L758V	ENSP00000320059:L703V	L	-	1	0	MMS19	99210665	0.998000	0.40836	0.992000	0.48379	0.809000	0.45718	1.343000	0.33930	-0.217000	0.10033	-0.350000	0.07774	CTT	MMS19	-	superfamily_ARM-type_fold		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	G			99220675	-1	no_errors	ENST00000370782	ensembl	human	known	70_37	missense	SNP	0.994	C	C	99220675	G	C	99220675	3	2	34	1	0	0	0	0	1	0	0	0	9695	942	33	1	723	1	MMS19	10	99220675	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5221503	99220675	36314072	223	4690										
POLL	27343	genome.wustl.edu	37	chr10	103339545	103339545	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgttgctgaccattctcctCttggctcaccaagtcatctg	7	14	5	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:103339545C>G	ENST00000370162.3	-	9	1887	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	POLL_ENST00000370158.3_Missense_Mutation_p.E190Q|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.E465Q|POLL_ENST00000456836.2_Missense_Mutation_p.E202Q|POLL_ENST00000339310.3_Missense_Mutation_p.E188Q|POLL_ENST00000370168.3_Missense_Mutation_p.E138Q|POLL_ENST00000370172.1_Missense_Mutation_p.E377Q|POLL_ENST00000299206.4_Missense_Mutation_p.E465Q|DPCD_ENST00000416979.2_Intron|POLL_ENST00000463515.1_5'UTR	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	465					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCATTCTCCTCTTGGCTCACC	0.642								DNA polymerases (catalytic subunits)																																									0													49	46	47					10																	103339545		2203	4300	6503	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1393G>C	10.37:g.103339545C>G	ENSP00000359181:p.Glu465Gln		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.E465Q	ENST00000370162.3	37	c.1393	CCDS7513.1	10	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770122	0.49680	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.25	4.28	0.50868	DNA-directed DNA polymerase X (1);	0.056421	0.64402	D	0.000001	T	0.43523	0.1251	L	0.53561	1.675	0.80722	D	1	P;P;P;D;B;P	0.56287	0.477;0.948;0.909;0.975;0.239;0.834	B;B;B;P;B;B	0.45610	0.068;0.332;0.252;0.487;0.022;0.156	T	0.47497	-0.9113	10	0.54805	T	0.06	-26.837	14.2508	0.66019	0.1498:0.8502:0.0:0.0	.	188;202;190;465;373;138	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	Q	465;465;465;188;377;138;465;190;465;202;380;188	ENSP00000299206:E465Q;ENSP00000359188:E465Q;ENSP00000343102:E188Q;ENSP00000359191:E377Q;ENSP00000359187:E138Q;ENSP00000359181:E465Q;ENSP00000359177:E190Q;ENSP00000390810:E202Q;ENSP00000400676:E380Q;ENSP00000406791:E188Q	ENSP00000299206:E465Q	E	-	1	0	POLL	103329535	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.622000	0.67750	2.437000	0.82529	0.462000	0.41574	GAG	POLL	-	smart_DNA-dir_DNA_pol_X		0.642	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	POLL	HGNC	protein_coding	OTTHUMT00000049946.1	C	NM_013274		103339545	-1	no_errors	ENST00000299206	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103339545	C	G	103339545	3	3	34	1	0	0	0	0	1	0	0	0	12229	922	32	1	338	1	POLL	10	103339545	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4118870	103339545	32195202	224	4691										
TMEM180	79847	genome.wustl.edu	37	chr10	104231094	104231094	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcatcaccttgggccggtatCtccggcagctggcacgccat	12	15	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:104231094C>T	ENST00000238936.4	+	6	1006	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.L106F	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	257						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGCCGGTATCTCCGGCAGCT	0.637																																																	0													85	74	77					10																	104231094		2203	4300	6503	SO:0001583	missense	79847			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.769C>T	10.37:g.104231094C>T	ENSP00000238936:p.Leu257Phe		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L257F	ENST00000238936.4	37	c.769	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122571	0.77436	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.87491	-2.26	5.52	4.61	0.57282	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	L	0.37897	1.145	0.80722	D	1	P;B;D	0.89917	0.649;0.302;1.0	B;B;D	0.91635	0.216;0.25;0.999	D	0.85606	0.1255	10	0.19147	T	0.46	.	13.1624	0.59552	0.0:0.9231:0.0:0.0769	.	106;257;106	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	F	106;257;106	ENSP00000238936:L257F	ENSP00000238936:L257F	L	+	1	0	TMEM180	104221084	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.354000	0.59417	1.323000	0.45263	0.561000	0.74099	CTC	TMEM180	-	superfamily_MFS_dom_general_subst_transpt		0.637	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	C	NM_024789		104231094	1	no_errors	ENST00000238936	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104231094	C	T	104231094	3	4	34	1	0	0	0	0	1	0	0	0	16129	913	32	1	783	1	TMEM180	10	104231094	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	891549	104231094	31303653	225	4692										
HABP2	3026	genome.wustl.edu	37	chr10	115341797	115341797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcaggcgtccctccagtcctCgctgcctctgaccatctcca	8	19	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:115341797C>T	ENST00000351270.3	+	9	1097	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	HABP2_ENST00000542051.1_Missense_Mutation_p.S308L|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	334	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CTCCAGTCCTCGCTGCCTCTG	0.602																																																	0													46	51	49					10																	115341797		2203	4300	6503	SO:0001583	missense	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1001C>T	10.37:g.115341797C>T	ENSP00000277903:p.Ser334Leu		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S334L	ENST00000351270.3	37	c.1001	CCDS7577.1	10	.	.	.	.	.	.	.	.	.	.	C	5.281	0.237346	0.10023	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.89270	-2.49;-2.49	5.95	1.72	0.24424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.106060	0.06882	N	0.802777	T	0.78892	0.4355	N	0.16201	0.385	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.61724	-0.7004	10	0.19590	T	0.45	.	8.8278	0.35065	0.0:0.5981:0.0:0.4019	.	334	Q14520	HABP2_HUMAN	L	308;334	ENSP00000443283:S308L;ENSP00000277903:S334L	ENSP00000277903:S334L	S	+	2	0	HABP2	115331787	0.000000	0.05858	0.238000	0.24106	0.017000	0.09413	-0.240000	0.08952	0.333000	0.23563	0.491000	0.48974	TCG	HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.602	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115341797	1	no_errors	ENST00000351270	ensembl	human	known	70_37	missense	SNP	0.016	T	T	115341797	C	T	115341797	3	4	34	1	0	0	0	0	1	0	0	0	6958	893	31	1	1035	1	HABP2	10	115341797	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	11110703	115341797	20192950	226	4693										
NRAP	4892	genome.wustl.edu	37	chr10	115411592	115411592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agctgtgccccagccttgctCcgtagcagctcaggagtatc	11	14	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:115411592C>T	ENST00000359988.3	-	7	889	c.645G>A	c.(643-645)cgG>cgA	p.R215R	NRAP_ENST00000369358.4_Silent_p.R215R|NRAP_ENST00000360478.3_Silent_p.R215R|NRAP_ENST00000369360.3_Silent_p.R215R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCCTTGCTCCGTAGCAGCT	0.512																																																	0													100	77	85					10																	115411592		2203	4300	6503	SO:0001819	synonymous_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.645G>A	10.37:g.115411592C>T				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.R215	ENST00000359988.3	37	c.645	CCDS7579.1	10																																																																																			NRAP	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	C	NM_006175		115411592	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	silent	SNP	0.998	T	T	115411592	C	T	115411592	2	4	34	1	0	0	0	0	0	0	0	1	10662	842	30	1		1	NRAP	10	115411592	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	69795	115411592	20123155	227	4694										
VWA2	340706	genome.wustl.edu	37	chr10	116048748	116048748	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	catgttggacacctctgcctCagtagggcccgagaattttg	11	11	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:116048748C>T	ENST00000392982.3	+	12	1872	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L	VWA2_ENST00000603594.1_Missense_Mutation_p.S541L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	541	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACCTCTGCCTCAGTAGGGCCC	0.587																																																	0													79	76	77					10																	116048748		2203	4300	6503	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1622C>T	10.37:g.116048748C>T	ENSP00000376708:p.Ser541Leu		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.S541L	ENST00000392982.3	37	c.1622		10	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715196	0.30413	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.91068	-2.78	5.43	5.43	0.79202	von Willebrand factor, type A (3);	0.324879	0.27500	N	0.019083	D	0.95494	0.8536	M	0.93462	3.42	0.26372	N	0.976875	P;P;B	0.48589	0.912;0.58;0.33	P;B;B	0.55785	0.784;0.272;0.178	D	0.91372	0.5120	10	0.87932	D	0	.	13.8907	0.63738	0.0:0.8476:0.1524:0.0	.	237;541;541	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	L	541	ENSP00000376708:S541L	ENSP00000298715:S541L	S	+	2	0	VWA2	116038738	0.956000	0.32656	0.814000	0.32528	0.044000	0.14063	4.061000	0.57485	2.547000	0.85894	0.655000	0.94253	TCA	VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.587	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	C	NM_198496		116048748	1	no_errors	ENST00000392982	ensembl	human	known	70_37	missense	SNP	0.868	T	T	116048748	C	T	116048748	3	4	34	1	0	0	0	0	1	0	0	0	17270	838	29	1	1664	1	VWA2	10	116048748	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	637156	116048748	19485999	228	4695										
EIF3A	8661	genome.wustl.edu	37	chr10	120829034	120829034	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acgatggagtgtagatgcatGaaaaagagcatttccagatt	11	5	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:120829034G>T	ENST00000369144.3	-	6	1001	c.874C>A	c.(874-876)Cat>Aat	p.H292N	EIF3A_ENST00000541549.1_Missense_Mutation_p.H258N	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTAGATGCATGAAAAAGAGCA	0.353																																																	0													139	129	132					10																	120829034		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.874C>A	10.37:g.120829034G>T	ENSP00000358140:p.His292Asn		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.H292N	ENST00000369144.3	37	c.874	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059292	0.76074	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.45668	0.89;0.89	5.87	5.87	0.94306	.	0.000000	0.40385	N	0.001101	T	0.71264	0.3319	M	0.86805	2.84	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.73739	-0.3888	10	0.66056	D	0.02	-39.4608	20.5827	0.99408	0.0:0.0:1.0:0.0	.	292	Q14152	EIF3A_HUMAN	N	292;258	ENSP00000358140:H292N;ENSP00000438178:H258N	ENSP00000358140:H292N	H	-	1	0	EIF3A	120819024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.772000	0.98984	2.941000	0.99782	0.655000	0.94253	CAT	EIF3A	-	NULL		0.353	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	G	NM_003750		120829034	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120829034	G	T	120829034	3	4	34	1	0	0	0	0	1	0	0	0	5022	1290	45	3	3342	3	EIF3A	10	120829034	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4780286	120829034	14705713	229	4696										
OAT	4942	genome.wustl.edu	37	chr10	126097341	126097341	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggaagaactttgtggtagttGaaaagtttagtaatatactc	10	3	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:126097341G>A	ENST00000368845.5	-	3	485	c.393C>T	c.(391-393)ttC>ttT	p.F131F	OAT_ENST00000539214.1_5'UTR|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	131					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TGTGGTAGTTGAAAAGTTTAG	0.289																																																	0													70	73	72					10																	126097341		2203	4300	6503	SO:0001819	synonymous_variant	4942			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.393C>T	10.37:g.126097341G>A			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans	p.F131	ENST00000368845.5	37	c.393	CCDS7639.1	10																																																																																			OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans		0.289	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	G	NM_000274		126097341	-1	no_errors	ENST00000368845	ensembl	human	known	70_37	silent	SNP	1.000	A	A	126097341	G	A	126097341	2	1	34	1	0	0	0	0	0	0	0	1	10827	1281	45	1		1	OAT	10	126097341	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5268307	126097341	9437406	230	4697										
CARS	833	genome.wustl.edu	37	chr11	3023800	3023800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgtttcctccgggccgcctCctctttcttcttcctcttct	5	18	5	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:3023800C>G	ENST00000397111.5	-	20	2244	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	CARS_ENST00000401769.3_Missense_Mutation_p.E680Q|CARS_ENST00000380525.4_Missense_Mutation_p.E750Q|CARS_ENST00000470221.2_Intron|CARS_ENST00000278224.9_Missense_Mutation_p.E667Q|CARS_ENST00000397114.3_Missense_Mutation_p.E657Q			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	667					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CGGGCCGCCTCCTCTTTCTTC	0.572			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													271	253	259					11																	3023800		2202	4298	6500	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1999G>C	11.37:g.3023800C>G	ENSP00000380300:p.Glu667Gln		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.E750Q	ENST00000397111.5	37	c.2248	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395464	0.42512	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	3.54	3.54	0.40534	.	0.132836	0.49305	D	0.000146	T	0.53997	0.1831	M	0.70275	2.135	0.48341	D	0.999633	B;B;P;P;B;P	0.48640	0.006;0.107;0.913;0.734;0.049;0.913	B;B;B;P;B;P	0.49637	0.017;0.094;0.339;0.617;0.027;0.459	T	0.56111	-0.8033	10	0.36615	T	0.2	-8.348	12.3261	0.55011	0.0:1.0:0.0:0.0	.	680;750;667;667;750;657	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	Q	750;667;667;657;680	ENSP00000369897:E750Q;ENSP00000380300:E667Q;ENSP00000278224:E667Q;ENSP00000380303:E657Q;ENSP00000384069:E680Q	ENSP00000278224:E667Q	E	-	1	0	CARS	2980376	1.000000	0.71417	0.994000	0.49952	0.218000	0.24690	3.814000	0.55643	1.995000	0.58328	0.467000	0.42956	GAG	CARS	-	NULL		0.572	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	C	NM_001751		3023800	-1	no_errors	ENST00000380525	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3023800	C	G	3023800	3	3	34	1	0	0	0	0	1	0	0	0	2662	864	30	1	267	1	CARS	11	3023800	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		3023800	131982716	231	4698										
TPH1	7166	genome.wustl.edu	37	chr11	18050790	18050790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atatttagaaagcaaaggtaAgtttttgagatactctctgc	8	5	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:18050790A>G	ENST00000250018.2	-	5	1151	c.589T>C	c.(589-591)Tta>Cta	p.L197L	TPH1_ENST00000341556.2_Silent_p.L197L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	197					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AGCAAAGGTAAGTTTTTGAGA	0.373																																																	0													194	201	199					11																	18050790		2200	4293	6493	SO:0001819	synonymous_variant	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.589T>C	11.37:g.18050790A>G			D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.L197	ENST00000250018.2	37	c.589	CCDS7829.1	11																																																																																			TPH1	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.373	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	A	NM_004179		18050790	-1	no_errors	ENST00000341556	ensembl	human	known	70_37	silent	SNP	1.000	G	G	18050790	A	G	18050790	2	3	34	1	0	0	0	0	0	0	0	1	16432	69	3	5		5	TPH1	11	18050790	Silent	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	15026990	18050790	116955726	232	4699										
E2F8	79733	genome.wustl.edu	37	chr11	19247095	19247095	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gttggtgagaccattagcttCaacggtgttacatgaaaaga	11	6	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:19247095C>G	ENST00000527884.1	-	12	2326	c.2094G>C	c.(2092-2094)ttG>ttC	p.L698F	E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L698F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	698					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTAGCTTCAACGGTGTTA	0.498																																																	0													82	80	81					11																	19247095		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2094G>C	11.37:g.19247095C>G	ENSP00000434199:p.Leu698Phe		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.L698F	ENST00000527884.1	37	c.2094	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604516	0.28623	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.22945	1.93;1.93	5.98	4.11	0.48088	.	0.592490	0.15050	N	0.283363	T	0.25005	0.0607	L	0.45581	1.43	0.42755	D	0.993788	B	0.24768	0.111	B	0.27796	0.083	T	0.03630	-1.1018	10	0.56958	D	0.05	-1.4903	10.157	0.42829	0.0:0.7912:0.1366:0.0722	.	698	A0AVK6	E2F8_HUMAN	F	698	ENSP00000434199:L698F;ENSP00000250024:L698F	ENSP00000250024:L698F	L	-	3	2	E2F8	19203671	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.627000	0.24506	0.854000	0.35336	0.591000	0.81541	TTG	E2F8	-	NULL		0.498	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	C	NM_024680		19247095	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19247095	C	G	19247095	3	3	34	1	0	0	0	0	1	0	0	0	4883	825	29	1	517	1	E2F8	11	19247095	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1196305	19247095	115759421	233	4700										
GYLTL1B	120071	genome.wustl.edu	37	chr11	45948919	45948919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcctggccccatgagcctggCcttgtacctgacagacgcag	12	15	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:45948919C>T	ENST00000531526.1	+	11	1490	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A187V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A429V|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A460V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A429V|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A460V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	460					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGAGCCTGGCCTTGTACCTG	0.617																																																	0													70	59	63					11																	45948919		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1379C>T	11.37:g.45948919C>T	ENSP00000432869:p.Ala460Val		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.A460V	ENST00000531526.1	37	c.1379	CCDS31473.1	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049582	0.93740	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.76	4.83	0.62350	.	0.049201	0.85682	D	0.000000	T	0.61850	0.2380	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.988	D;D;D	0.75020	0.985;0.945;0.919	T	0.67233	-0.5722	10	0.59425	D	0.04	-21.7626	16.6979	0.85341	0.0:0.8704:0.1296:0.0	.	429;429;460	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	V	429;460;460;187;460;429	ENSP00000431932:A429V;ENSP00000432869:A460V;ENSP00000385235:A460V;ENSP00000374618:A187V;ENSP00000324570:A460V;ENSP00000445044:A429V	ENSP00000324570:A460V	A	+	2	0	GYLTL1B	45905495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	1.392000	0.46585	0.563000	0.77884	GCC	GYLTL1B	-	NULL		0.617	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	C	NM_152312		45948919	1	no_errors	ENST00000325468	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45948919	C	T	45948919	3	4	34	1	0	0	0	0	1	0	0	0	6927	739	26	4	1417	4	GYLTL1B	11	45948919	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	26701824	45948919	89057597	234	4701										
GYLTL1B	120071	genome.wustl.edu	37	chr11	45948953	45948953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gacgcagaagctcagcagttCctgcatttcgtcgaggcctc	11	13	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:45948953C>A	ENST00000531526.1	+	11	1524	c.1413C>A	c.(1411-1413)ttC>ttA	p.F471L	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F198L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F440L|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F471L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F440L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F471L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	471					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTCAGCAGTTCCTGCATTTCG	0.622																																																	0													86	71	76					11																	45948953		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1413C>A	11.37:g.45948953C>A	ENSP00000432869:p.Phe471Leu		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.F471L	ENST00000531526.1	37	c.1413	CCDS31473.1	11	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290612	0.23564	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.76	0.666	0.17901	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	L	0.35341	1.055	0.54753	D	0.999983	D;B;B	0.76494	0.999;0.091;0.015	D;B;B	0.73380	0.98;0.139;0.071	T	0.01448	-1.1352	10	0.18710	T	0.47	-27.5311	10.4988	0.44794	0.0:0.6824:0.0:0.3176	.	440;440;471	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	L	440;471;471;198;471;440	ENSP00000431932:F440L;ENSP00000432869:F471L;ENSP00000385235:F471L;ENSP00000374618:F198L;ENSP00000324570:F471L;ENSP00000445044:F440L	ENSP00000324570:F471L	F	+	3	2	GYLTL1B	45905529	1.000000	0.71417	0.994000	0.49952	0.429000	0.31625	1.976000	0.40579	-0.114000	0.11936	0.563000	0.77884	TTC	GYLTL1B	-	NULL		0.622	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	C	NM_152312		45948953	1	no_errors	ENST00000325468	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45948953	C	A	45948953	3	1	34	1	0	0	0	0	1	0	0	0	6927	854	30	3	1451	3	GYLTL1B	11	45948953	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	34	45948953	89057563	235	4702										
ZNF408	79797	genome.wustl.edu	37	chr11	46726695	46726695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcccctggccaaccagggctCcctgcggaaccatatgaggc	12	16	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:46726695C>T	ENST00000311764.2	+	5	1675	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACCAGGGCTCCCTGCGGAAC	0.672																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													45	51	49					11																	46726695		2200	4299	6499	SO:0001583	missense	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1445C>T	11.37:g.46726695C>T	ENSP00000309606:p.Ser482Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S482F	ENST00000311764.2	37	c.1445	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730644	0.48939	.	.	ENSG00000175213	ENST00000311764	T	0.20200	2.09	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000460	T	0.43897	0.1268	L	0.55017	1.72	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.07693	-1.0759	10	0.42905	T	0.14	-33.7066	19.1844	0.93637	0.0:1.0:0.0:0.0	.	474;482	B4DXY4;Q9H9D4	.;ZN408_HUMAN	F	482	ENSP00000309606:S482F	ENSP00000309606:S482F	S	+	2	0	ZNF408	46683271	0.997000	0.39634	1.000000	0.80357	0.086000	0.17979	3.604000	0.54081	2.838000	0.97847	0.563000	0.77884	TCC	ZNF408	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	C	NM_024741		46726695	1	no_errors	ENST00000311764	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46726695	C	T	46726695	3	4	34	1	0	0	0	0	1	0	0	0	17918	855	30	1	1495	1	ZNF408	11	46726695	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	777742	46726695	88279821	236	4703										
EML3	256364	genome.wustl.edu	37	chr11	62371633	62371633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctcattgccatcaatgacatCagacacgatctctctggtct	6	13	6	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:62371633C>T	ENST00000394773.2	-	17	2330	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N	EML3_ENST00000494176.2_Missense_Mutation_p.D647N|MTA2_ENST00000278823.2_5'Flank|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.D676N|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Missense_Mutation_p.D458N|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.D675N	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	675						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCAATGACATCAGACACGATC	0.572																																																	0													108	90	96					11																	62371633		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2023G>A	11.37:g.62371633C>T	ENSP00000378254:p.Asp675Asn		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D675N	ENST00000394773.2	37	c.2023	CCDS8023.2	11	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408685	0.62399	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.39056	1.1;1.1;1.62;1.62;1.62	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.208552	0.46145	D	0.000317	T	0.45316	0.1336	N	0.22421	0.69	0.09310	N	1	D;D;B;D;P	0.58970	0.984;0.971;0.42;0.979;0.944	P;P;B;P;P	0.60789	0.879;0.856;0.047;0.828;0.719	T	0.35176	-0.9799	10	0.59425	D	0.04	-15.6517	11.6601	0.51341	0.1771:0.8229:0.0:0.0	.	675;675;458;676;647	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	N	675;676;458;647;675	ENSP00000378254:D675N;ENSP00000278845:D676N;ENSP00000433417:D458N;ENSP00000435064:D647N;ENSP00000434513:D675N	ENSP00000278845:D676N	D	-	1	0	EML3	62128209	0.000000	0.05858	0.369000	0.25952	0.973000	0.67179	0.991000	0.29654	2.594000	0.87642	0.555000	0.69702	GAT	EML3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.572	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62371633	-1	no_errors	ENST00000529309	ensembl	human	known	70_37	missense	SNP	0.023	T	T	62371633	C	T	62371633	3	4	34	1	0	0	0	0	1	0	0	0	5110	826	29	1	691	1	EML3	11	62371633	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	15644938	62371633	72634883	237	4704										
SLC3A2	6520	genome.wustl.edu	37	chr11	62648619	62648619	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cgggagccgagaagaatggtCtggtgaagatcaaggtggcg	18	6	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:62648619C>T	ENST00000377890.2	+	4	595	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	SLC3A2_ENST00000377889.2_Silent_p.L81L|SLC3A2_ENST00000377892.1_Silent_p.L174L|SLC3A2_ENST00000377891.2_Silent_p.L144L|SLC3A2_ENST00000535296.1_Silent_p.L112L|SLC3A2_ENST00000338663.7_Silent_p.L42L|SLC3A2_ENST00000536981.1_5'Flank	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	143					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAAGAATGGTCTGGTGAAGAT	0.637											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27	32	30					11																	62648619		2201	4297	6498	SO:0001819	synonymous_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.427C>T	11.37:g.62648619C>T		1062	Q13543	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.L174	ENST00000377890.2	37	c.520	CCDS8039.2	11																																																																																			SLC3A2	-	NULL		0.637	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SLC3A2	HGNC	protein_coding	OTTHUMT00000157306.1	C	NM_001012661		62648619	1	no_errors	ENST00000377892	ensembl	human	known	70_37	silent	SNP	0.957	T	T	62648619	C	T	62648619	2	4	34	1	0	0	0	0	0	0	0	1	14657	912	32	1		1	SLC3A2	11	62648619	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	276986	62648619	72357897	238	4705										
CAPN1	823	genome.wustl.edu	37	chr11	64950427	64950427	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aagacctatggcatcaagtgGaagcgtcccacggtgagagg	14	9	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:64950427G>A	ENST00000527323.1	+	1	495	c.255G>A	c.(253-255)tgG>tgA	p.W85*	CAPN1_ENST00000524773.1_Nonsense_Mutation_p.W85*|AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000533129.1_Nonsense_Mutation_p.W85*|CAPN1_ENST00000279247.6_Nonsense_Mutation_p.W85*|CAPN1_ENST00000533820.1_Nonsense_Mutation_p.W85*|CAPN1_ENST00000527469.1_3'UTR			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	85	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCATCAAGTGGAAGCGTCCCA	0.612																																																	0													36	40	39					11																	64950427		1998	4159	6157	SO:0001587	stop_gained	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.255G>A	11.37:g.64950427G>A	ENSP00000431984:p.Trp85*		Q2TTR0|Q6DHV4	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W85*	ENST00000527323.1	37	c.255	CCDS44644.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.521716|5.521716	0.96416|0.96416	.|.	.|.	ENSG00000014216|ENSG00000014216	ENST00000259755|ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323	.|.	.|.	.|.	5.13|5.13	4.21|4.21	0.49690|0.49690	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.64757|.	0.2627|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76195|.	-0.3048|.	4|.	0.87932|0.87932	D|D	0|0	.|.	10.6464|10.6464	0.45623|0.45623	0.0929:0.0:0.9071:0.0|0.0929:0.0:0.9071:0.0	.|.	.|.	.|.	.|.	E|X	55|85	.|.	ENSP00000259755:G55E|ENSP00000279247:W85X	G|W	+|+	2|3	0|0	CAPN1|CAPN1	64707003|64707003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.826000|9.826000	0.99387|0.99387	2.397000|2.397000	0.81536|0.81536	0.561000|0.561000	0.74099|0.74099	GGA|TGG	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.612	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64950427	1	no_errors	ENST00000279247	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	64950427	G	A	64950427	4	1	34	1	0	0	0	0	0	1	0	0	2627	1183	41	1	257	1	CAPN1	11	64950427	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2301808	64950427	70056089	239	4706										
POLA2	23649	genome.wustl.edu	37	chr11	65062110	65062110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgcttttccacctgggggccGaggagatcagtaggtaagaa	14	8	1	2	rs200610658		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:65062110G>A	ENST00000265465.3	+	15	1978	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.E275K	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	483					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCTGGGGGCCGAGGAGATCAG	0.527																																																	0													84	81	82					11																	65062110		2201	4297	6498	SO:0001583	missense	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1447G>A	11.37:g.65062110G>A	ENSP00000265465:p.Glu483Lys		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.E483K	ENST00000265465.3	37	c.1447	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.534112	0.96460	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T;T	0.31769	1.48;1.48	5.58	5.58	0.84498	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.65508	-0.6151	10	0.59425	D	0.04	-27.3157	17.0613	0.86548	0.0:0.0:1.0:0.0	.	275;483	B4DNB4;Q14181	.;DPOA2_HUMAN	K	483;275	ENSP00000265465:E483K;ENSP00000443222:E275K	ENSP00000265465:E483K	E	+	1	0	POLA2	64818686	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	8.711000	0.91396	2.640000	0.89533	0.561000	0.74099	GAG	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu		0.527	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	G	NM_002689		65062110	1	no_errors	ENST00000265465	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65062110	G	A	65062110	3	1	34	1	0	0	0	0	1	0	0	0	12212	1059	37	1	1505	1	POLA2	11	65062110	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	111683	65062110	69944406	240	4707										
GPR152	390212	genome.wustl.edu	37	chr11	67219209	67219209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaatctagctgggtctgtggCtcagtgggcgtgaagctgcc	16	9	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:67219209C>T	ENST00000312457.2	-	1	991	c.987G>A	c.(985-987)gaG>gaA	p.E329E	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGGTCTGTGGCTCAGTGGGCG	0.657																																					Pancreas(102;800 1581 2723 7382 33622)												0													45	43	44					11																	67219209		2200	4294	6494	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.987G>A	11.37:g.67219209C>T			Q0VD88|Q86SM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E329	ENST00000312457.2	37	c.987	CCDS8165.1	11																																																																																			GPR152	-	NULL		0.657	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	HGNC	protein_coding	OTTHUMT00000397623.1	C			67219209	-1	no_errors	ENST00000312457	ensembl	human	known	70_37	silent	SNP	0.001	T	T	67219209	C	T	67219209	2	4	34	1	0	0	0	0	0	0	0	1	6677	796	28	4		4	GPR152	11	67219209	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2157099	67219209	67787307	241	4708										
PPFIA1	8500	genome.wustl.edu	37	chr11	70222679	70222679	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaatttaacaaccttttggtCatggggactgatagaaggtt	11	5	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:70222679C>T	ENST00000253925.7	+	25	3572	c.3357C>T	c.(3355-3357)gtC>gtT	p.V1119V	PPFIA1_ENST00000389547.3_Silent_p.V1119V|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1119	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACCTTTTGGTCATGGGGACTG	0.328																																																	0													185	181	183					11																	70222679		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3357C>T	11.37:g.70222679C>T			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V1119	ENST00000253925.7	37	c.3357	CCDS31627.1	11																																																																																			PPFIA1	-	superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.328	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	C	NM_003626		70222679	1	no_errors	ENST00000253925	ensembl	human	known	70_37	silent	SNP	0.994	T	T	70222679	C	T	70222679	2	4	34	1	0	0	0	0	0	0	0	1	12333	813	29	1		1	PPFIA1	11	70222679	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3003470	70222679	64783837	242	4709										
FCHSD2	9873	genome.wustl.edu	37	chr11	72553785	72553785	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttcccagaagccatcatcatCttggttttctttgttcaaga	6	10	5	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:72553785C>T	ENST00000409418.4	-	17	2190	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	FCHSD2_ENST00000409314.1_Missense_Mutation_p.D627N|FCHSD2_ENST00000311172.7_Missense_Mutation_p.D547N|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D467N|FCHSD2_ENST00000409263.1_Intron|ATG16L2_ENST00000534905.1_3'UTR	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	603	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CCATCATCATCTTGGTTTTCT	0.428																																																	0													141	136	138					11																	72553785		2200	4293	6493	SO:0001583	missense	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1807G>A	11.37:g.72553785C>T	ENSP00000386722:p.Asp603Asn		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.D603N	ENST00000409418.4	37	c.1807	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812017	0.50527	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.03	6.03	0.97812	Src homology-3 domain (4);	0.425959	0.27371	N	0.019673	T	0.52933	0.1765	L	0.49126	1.545	0.80722	D	1	B;P	0.38677	0.372;0.642	B;B	0.43225	0.138;0.412	T	0.52185	-0.8609	10	0.62326	D	0.03	-24.2196	19.5548	0.95338	0.0:1.0:0.0:0.0	.	467;603	E7ENZ2;O94868	.;FCSD2_HUMAN	N	547;627;603;467	ENSP00000308978:D547N;ENSP00000386987:D627N;ENSP00000386722:D603N;ENSP00000402972:D467N	ENSP00000308978:D547N	D	-	1	0	FCHSD2	72231433	1.000000	0.71417	0.978000	0.43139	0.830000	0.47004	5.699000	0.68310	2.854000	0.98071	0.655000	0.94253	GAT	FCHSD2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.428	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	C	NM_014824		72553785	-1	no_errors	ENST00000409418	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72553785	C	T	72553785	3	4	34	1	0	0	0	0	1	0	0	0	5808	913	32	1	431	1	FCHSD2	11	72553785	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2331106	72553785	62452731	243	4710										
USP35	57558	genome.wustl.edu	37	chr11	77917022	77917022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acgggcaagattggtctcatCaacctgggcaacacatgcta	10	11	2	1	rs541470559		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:77917022C>G	ENST00000529308.1	+	7	1593	c.1332C>G	c.(1330-1332)atC>atG	p.I444M	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.I175M|USP35_ENST00000530267.1_Missense_Mutation_p.I12M|USP35_ENST00000441408.2_Nonsense_Mutation_p.S29*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	444	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TTGGTCTCATCAACCTGGGCA	0.557													C|||	1	0.000199681	0	0	5008	,	,		18346	0		0	False		,,,				2504	0.001																0													301	307	305					11																	77917022		2056	4177	6233	SO:0001583	missense	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1332C>G	11.37:g.77917022C>G	ENSP00000431876:p.Ile444Met			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S29*	ENST00000529308.1	37	c.86	CCDS41693.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.001007|8.001007	0.98605|0.98605	.|.	.|.	ENSG00000118369|ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000526425|ENST00000441408	T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48|.	4.7|4.7	3.78|3.78	0.43462|0.43462	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.096050|.	0.44483|.	D|.	0.000444|.	T|.	0.33614|.	0.0869|.	L|L	0.39020|0.39020	1.185|1.185	0.80722|0.80722	A|A	1|1	D|.	0.64830|.	0.994|.	D|.	0.66497|.	0.944|.	T|.	0.35051|.	-0.9804|.	9|.	0.32370|0.02654	T|T	0.25|1	-30.6319|-30.6319	8.2094|8.2094	0.31476|0.31476	0.0:0.7667:0.0:0.2333|0.0:0.7667:0.0:0.2333	.|.	444|.	Q9P2H5|.	UBP35_HUMAN|.	M|X	12;200;444;175|29	ENSP00000435468:I12M;ENSP00000436001:I200M;ENSP00000431876:I444M;ENSP00000434942:I175M|.	ENSP00000434942:I175M|ENSP00000400825:S29X	I|S	+|+	3|2	3|0	USP35|USP35	77594670|77594670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	1.353000|1.353000	0.34045|0.34045	1.164000|1.164000	0.42652|0.42652	0.591000|0.591000	0.81541|0.81541	ATC|TCA	USP35	-	pfscan_Peptidase_C19		0.557	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	C	XM_290527		77917022	1	no_errors	ENST00000441408	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	77917022	C	G	77917022	3	3	34	1	0	0	0	0	1	0	0	0	17097	816	29	1	1354	1	USP35	11	77917022	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5363237	77917022	57089494	244	4711										
SYTL2	54843	genome.wustl.edu	37	chr11	85445564	85445564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcgcttgaggatccctctcgGagcccctctcgctttcaggg	12	15	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:85445564G>A	ENST00000528231.1	-	6	1082	c.805C>T	c.(805-807)Ccg>Tcg	p.P269S	SYTL2_ENST00000389960.4_Missense_Mutation_p.P269S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P221S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P269S|SYTL2_ENST00000316356.4_Missense_Mutation_p.P270S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	269					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCCCTCTCGGAGCCCCTCTC	0.443																																																	0													133	136	135					11																	85445564		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.805C>T	11.37:g.85445564G>A	ENSP00000431701:p.Pro269Ser		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.P270S	ENST00000528231.1	37	c.808	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303542	0.60195	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.35789	1.29;1.49;1.52;1.4;1.29	5.87	5.87	0.94306	.	.	.	.	.	T	0.61098	0.2320	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.983;0.998;1.0;0.998;0.983	T	0.56159	-0.8025	8	.	.	.	.	19.8095	0.96541	0.0:0.0:1.0:0.0	.	221;269;269;270;127	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	S	269;270;269;221;269	ENSP00000374610:P269S;ENSP00000318803:P270S;ENSP00000431701:P269S;ENSP00000434010:P221S;ENSP00000435238:P269S	.	P	-	1	0	SYTL2	85123212	1.000000	0.71417	0.837000	0.33122	0.153000	0.21895	6.541000	0.73865	2.775000	0.95449	0.650000	0.86243	CCG	SYTL2	-	NULL		0.443	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85445564	-1	no_errors	ENST00000316356	ensembl	human	known	70_37	missense	SNP	0.988	A	A	85445564	G	A	85445564	3	1	34	1	0	0	0	0	1	0	0	0	15513	1174	41	1	4532	1	SYTL2	11	85445564	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7528542	85445564	49560952	245	4712										
SIDT2	51092	genome.wustl.edu	37	chr11	117063944	117063944	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	attggcatctgcaacctgctCctttacttcgccttctacat	5	14	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:117063944C>T	ENST00000324225.4	+	23	2712	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	SIDT2_ENST00000532062.1_Silent_p.L19L|SIDT2_ENST00000431081.2_Silent_p.L724L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	727					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCAACCTGCTCCTTTACTTCG	0.572																																																	0													338	322	328					11																	117063944		2201	4296	6497	SO:0001819	synonymous_variant	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2181C>T	11.37:g.117063944C>T			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.L748	ENST00000324225.4	37	c.2244	CCDS31682.1	11																																																																																			SIDT2	-	NULL		0.572	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	C	NM_015996		117063944	1	no_errors	ENST00000278951	ensembl	human	known	70_37	silent	SNP	0.820	T	T	117063944	C	T	117063944	2	4	34	1	0	0	0	0	0	0	0	1	14333	842	30	1		1	SIDT2	11	117063944	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	31618380	117063944	17942572	246	4713										
TREH	23187	genome.wustl.edu	37	chr11	118531414	118531414	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccagactcagccccagccttGagctcagcccacagagcctc	8	19	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:118531414G>C	ENST00000361417.2	+	0	5753				TREH_ENST00000529101.1_Silent_p.L312L|TREH_ENST00000264029.4_Silent_p.L312L|TREH_ENST00000530256.1_Silent_p.L189L|TREH_ENST00000525958.1_Silent_p.L281L|TREH_ENST00000397925.1_Silent_p.L281L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCAGCCTTGAGCTCAGCCC	0.617																																																	0													34	39	37					11																	118531414		2045	4202	6247	SO:0001628	intergenic_variant	11181				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118531414G>C			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37	p.L312	ENST00000361417.2	37	c.936	CCDS8401.1	11																																																																																			TREH	-	pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREH	HGNC	protein_coding	OTTHUMT00000389279.1	G	NM_015157		118531414	-1	no_errors	ENST00000264029	ensembl	human	known	70_37	silent	SNP	1.000	C	C	118531414	G	C	118531414	1	2	34	0	1	0	0	0	0	0	0	0	16500	1277	45	1		1	TREH	11	118531414	IGR	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1467470	118531414	16475102	247	4714										
ABCG4	64137	genome.wustl.edu	37	chr11	119025602	119025602	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctggtcaacaacccgcctgtCatgttctttgatgagcccac	8	14	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:119025602C>T	ENST00000449422.2	+	6	851	c.663C>T	c.(661-663)gtC>gtT	p.V221V	ABCG4_ENST00000307417.3_Silent_p.V221V|ABCG4_ENST00000531739.1_Silent_p.V221V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	221	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACCCGCCTGTCATGTTCTTTG	0.622																																																	0													161	150	154					11																	119025602		2200	4295	6495	SO:0001819	synonymous_variant	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.663C>T	11.37:g.119025602C>T			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V221	ENST00000449422.2	37	c.663	CCDS8415.1	11																																																																																			ABCG4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	C	NM_022169		119025602	1	no_errors	ENST00000307417	ensembl	human	known	70_37	silent	SNP	1.000	T	T	119025602	C	T	119025602	2	4	34	1	0	0	0	0	0	0	0	1	70	813	29	1		1	ABCG4	11	119025602	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	494188	119025602	15980914	248	4715										
TRIM29	23650	genome.wustl.edu	37	chr11	120008473	120008473	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgctgaagtagttggagttCttgtcgtccccggactcgac	12	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:120008473C>G	ENST00000341846.5	-	1	688	c.267G>C	c.(265-267)aaG>aaC	p.K89N		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	89					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGTTGGAGTTCTTGTCGTCCC	0.622																																																	0													143	157	152					11																	120008473		2203	4300	6503	SO:0001583	missense	23650			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.267G>C	11.37:g.120008473C>G	ENSP00000343129:p.Lys89Asn		Q96AA9|Q9BZY7	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.K89N	ENST00000341846.5	37	c.267	CCDS8428.1	11	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841929	0.51057	.	.	ENSG00000137699	ENST00000341846;ENST00000529011;ENST00000529495;ENST00000532833	T	0.54675	0.56	5.37	2.48	0.30137	.	0.000000	0.64402	D	0.000007	T	0.56232	0.1971	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.48410	-0.9038	9	.	.	.	.	8.7568	0.34650	0.0:0.7739:0.0:0.2261	.	89	Q14134	TRI29_HUMAN	N	89	ENSP00000343129:K89N	.	K	-	3	2	TRIM29	119513683	0.984000	0.35163	0.994000	0.49952	0.506000	0.33950	1.967000	0.40491	0.242000	0.21303	0.655000	0.94253	AAG	TRIM29	-	NULL		0.622	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	C	NM_012101		120008473	-1	no_errors	ENST00000341846	ensembl	human	known	70_37	missense	SNP	0.997	G	G	120008473	C	G	120008473	3	3	34	1	0	0	0	0	1	0	0	0	16534	912	32	1	1535	1	TRIM29	11	120008473	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	982871	120008473	14998043	249	4716										
RPUSD4	84881	genome.wustl.edu	37	chr11	126081456	126081456	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcacaaaatggctttgagacGagagtgaagagactcccgca	12	9	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:126081456G>A	ENST00000298317.4	-	1	131	c.78C>T	c.(76-78)ctC>ctT	p.L26L	RPUSD4_ENST00000534393.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L26L|RNU4-86P_ENST00000410135.1_RNA|FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000529731.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	26					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GCTTTGAGACGAGAGTGAAGA	0.617																																																	0													95	104	101					11																	126081456		2201	4299	6500	SO:0001819	synonymous_variant	84881			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.78C>T	11.37:g.126081456G>A			E9PML2|Q96K56	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.L26	ENST00000298317.4	37	c.78	CCDS8469.1	11																																																																																			RPUSD4	-	NULL		0.617	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	G	NM_032795		126081456	-1	no_errors	ENST00000298317	ensembl	human	known	70_37	silent	SNP	0.000	A	A	126081456	G	A	126081456	2	1	34	1	0	0	0	0	0	0	0	1	13699	1045	37	1		1	RPUSD4	11	126081456	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6072983	126081456	8925060	250	4717										
KCNJ5	3762	genome.wustl.edu	37	chr11	128781607	128781607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcctgttctccattgagaccGaaacaaccattgggtatggc	9	11	1	1	rs148355179	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:128781607G>A	ENST00000338350.4	+	3	791	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	KCNJ5_ENST00000533599.1_Missense_Mutation_p.E147K|KCNJ5_ENST00000529694.1_Missense_Mutation_p.E147K			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	147					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.E147K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CATTGAGACCGAAACAACCAT	0.527																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU	0,4402		0,0,2201	152	149	150		439	5.5	0.5	11	dbSNP_134	150	1,8593	1.2+/-3.3	0,1,4296	no	missense	KCNJ5	NM_000890.3	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	147/420	128781607	1,12995	2201	4297	6498	SO:0001583	missense	3762			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.439G>A	11.37:g.128781607G>A	ENSP00000339960:p.Glu147Lys		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.E147K	ENST00000338350.4	37	c.439	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602563	0.66445	0.0	1.16E-4	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95788	-3.81;-3.81;-3.81	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98671	1.0688	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	147	P48544	IRK5_HUMAN	K	147	ENSP00000433295:E147K;ENSP00000339960:E147K;ENSP00000434266:E147K	ENSP00000339960:E147K	E	+	1	0	KCNJ5	128286817	1.000000	0.71417	0.545000	0.28153	0.070000	0.16714	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	GAA	KCNJ5	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.527	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	G	NM_000890		128781607	1	no_errors	ENST00000529694	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128781607	G	A	128781607	3	1	34	1	0	0	0	0	1	0	0	0	8074	1059	37	1	441	1	KCNJ5	11	128781607	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2700151	128781607	6224909	251	4718										
IQSEC3	440073	genome.wustl.edu	37	chr12	271225	271225	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gagaagtccattgtgggcatGaagacagtgagtgtccacaa	13	7	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:271225G>A	ENST00000538872.1	+	8	2695	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.M556I|IQSEC3_ENST00000326261.4_Missense_Mutation_p.M859I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	859	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TTGTGGGCATGAAGACAGTGA	0.488																																																	0													134	93	107					12																	271225		2203	4300	6503	SO:0001583	missense	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2577G>A	12.37:g.271225G>A	ENSP00000437554:p.Met859Ile		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.M859I	ENST00000538872.1	37	c.2577	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077319	0.55753	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.28069	1.63;1.63;1.63	5.54	5.54	0.83059	.	0.135104	0.46442	D	0.000294	T	0.45236	0.1332	M	0.67953	2.075	0.80722	D	1	B;B	0.30741	0.293;0.264	B;B	0.40901	0.324;0.343	T	0.42649	-0.9439	10	0.62326	D	0.03	.	19.4846	0.95024	0.0:0.0:1.0:0.0	.	859;556	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	I	859;859;556	ENSP00000437554:M859I;ENSP00000315662:M859I;ENSP00000372292:M556I	ENSP00000315662:M859I	M	+	3	0	IQSEC3	141486	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.778000	0.99011	2.604000	0.88044	0.561000	0.74099	ATG	IQSEC3	-	NULL		0.488	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	G	XM_495902		271225	1	no_errors	ENST00000326261	ensembl	human	known	70_37	missense	SNP	1.000	A	A	271225	G	A	271225	3	1	34	1	0	0	0	0	1	0	0	0	7839	1290	45	1	2607	1	IQSEC3	12	271225	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		271225	133580670	252	4719										
AKAP3	10566	genome.wustl.edu	37	chr12	4735736	4735736	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctcagaggcagctacccattGaaggacggcttggagttgct	13	10	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:4735736G>A	ENST00000545990.2	-	5	2856	c.2332C>T	c.(2332-2334)Caa>Taa	p.Q778*	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Nonsense_Mutation_p.Q778*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	778					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCTACCCATTGAAGGACGGCT	0.493																																																	0													154	141	146					12																	4735736		2203	4300	6503	SO:0001587	stop_gained	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2332C>T	12.37:g.4735736G>A	ENSP00000440994:p.Gln778*		O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q778*	ENST00000545990.2	37	c.2332	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.267383	0.99371	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2829	15.1144	0.72388	0.0:0.0:1.0:0.0	.	.	.	.	X	778	.	ENSP00000228850:Q778X	Q	-	1	0	AKAP3	4605997	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	5.252000	0.65445	2.544000	0.85801	0.655000	0.94253	CAA	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.493	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	G	NM_006422		4735736	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	4735736	G	A	4735736	4	1	34	1	0	0	0	0	0	1	0	0	452	1299	45	1	237	1	AKAP3	12	4735736	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4464511	4735736	129116159	253	4720										
AKAP3	10566	genome.wustl.edu	37	chr12	4736184	4736184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gacgccaacggtctttcacaCaacttcctatcttccttaac	4	15	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:4736184C>A	ENST00000545990.2	-	5	2408	c.1884G>T	c.(1882-1884)ttG>ttT	p.L628F	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L628F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	628					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTCTTTCACACAACTTCCTAT	0.512																																																	0													58	55	56					12																	4736184		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1884G>T	12.37:g.4736184C>A	ENSP00000440994:p.Leu628Phe		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.L628F	ENST00000545990.2	37	c.1884	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081218	0.00371	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07688	3.17;3.17	5.69	-6.94	0.01633	A-kinase anchor 110kDa, C-terminal (1);	2.499000	0.01008	N	0.003791	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36138	-0.9760	10	0.36615	T	0.2	4.0688	1.9873	0.03439	0.141:0.2475:0.3379:0.2735	.	628	O75969	AKAP3_HUMAN	F	628	ENSP00000228850:L628F;ENSP00000440994:L628F	ENSP00000228850:L628F	L	-	3	2	AKAP3	4606445	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.901000	0.01597	-0.901000	0.03891	-0.878000	0.02970	TTG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.512	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4736184	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.000	A	A	4736184	C	A	4736184	3	1	34	1	0	0	0	0	1	0	0	0	452	477	17	4	685	4	AKAP3	12	4736184	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	448	4736184	129115711	254	4721										
PHC1	1911	genome.wustl.edu	37	chr12	9091972	9091972	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccttttattacttaaagaaGaacatcttatgagtgccatg	6	8	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:9091972G>C	ENST00000543824.1	+	16	3264	c.2932G>C	c.(2932-2934)Gaa>Caa	p.E978Q	PHC1_ENST00000544916.1_Missense_Mutation_p.E978Q|PHC1_ENST00000536844.1_Missense_Mutation_p.E584Q|PHC1_ENST00000433083.2_Missense_Mutation_p.E933Q			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	978	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTTAAAGAAGAACATCTTAT	0.468																																																	0													45	43	44					12																	9091972		2202	4288	6490	SO:0001583	missense	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2932G>C	12.37:g.9091972G>C	ENSP00000440674:p.Glu978Gln		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E978Q	ENST00000543824.1	37	c.2932	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574503	0.65878	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.42	5.42	0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.70055	0.3180	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71882	-0.4458	10	0.72032	D	0.01	-14.4841	18.8335	0.92151	0.0:0.0:1.0:0.0	.	978	P78364	PHC1_HUMAN	Q	978;978;933;978;584	ENSP00000440674:E978Q;ENSP00000251757:E978Q;ENSP00000399194:E933Q;ENSP00000437659:E978Q;ENSP00000440488:E584Q	ENSP00000251757:E978Q	E	+	1	0	PHC1	8983239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.549000	0.85964	0.650000	0.86243	GAA	PHC1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.468	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	G	NM_004426		9091972	1	no_errors	ENST00000251757	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9091972	G	C	9091972	3	2	34	1	0	0	0	0	1	0	0	0	11840	943	33	1	2986	1	PHC1	12	9091972	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	4355788	9091972	124759923	255	4722										
PIK3C2G	5288	genome.wustl.edu	37	chr12	18552709	18552709	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgggatgaaaggactgtttCagaaatgcataccattttga	10	5	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:18552709C>T	ENST00000266497.5	+	14	2158	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S748L|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S707L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	707	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGGACTGTTTCAGAAATGCAT	0.393																																																	0													86	85	86					12																	18552709		1849	4094	5943	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2120C>T	12.37:g.18552709C>T	ENSP00000266497:p.Ser707Leu		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S748L	ENST00000266497.5	37	c.2243	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671693	0.47781	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.63580	-0.05;-0.05;-0.05	5.08	3.11	0.35812	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.102199	0.42172	D	0.000751	T	0.53334	0.1790	L	0.45422	1.42	0.34145	D	0.66686	P;P;P	0.40534	0.72;0.673;0.58	B;B;B	0.40864	0.342;0.231;0.342	T	0.65660	-0.6114	10	0.39692	T	0.17	-2.4094	11.044	0.47849	0.0:0.8249:0.0:0.1751	.	747;748;707	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	L	707;707;748	ENSP00000404845:S707L;ENSP00000266497:S707L;ENSP00000445381:S748L	ENSP00000266497:S707L	S	+	2	0	PIK3C2G	18443976	0.793000	0.28825	0.691000	0.30163	0.983000	0.72400	0.748000	0.26305	1.373000	0.46208	0.585000	0.79938	TCA	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.393	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	C	NM_004570		18552709	1	no_errors	ENST00000538779	ensembl	human	known	70_37	missense	SNP	0.917	T	T	18552709	C	T	18552709	3	4	34	1	0	0	0	0	1	0	0	0	11935	838	29	1	2174	1	PIK3C2G	12	18552709	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	9460737	18552709	115299186	256	4723										
SLCO1A2	6579	genome.wustl.edu	37	chr12	21467488	21467488	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gactggagtacttactggttCatgaggaaatgaggtagtga	14	4	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:21467488C>T	ENST00000307378.6	-	5	1050	c.330G>A	c.(328-330)atG>atA	p.M110I	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.M108I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.M110I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	110					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CTTACTGGTTCATGAGGAAAT	0.403																																																	0													151	137	142					12																	21467488		2203	4300	6503	SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.330G>A	12.37:g.21467488C>T	ENSP00000305974:p.Met110Ile		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M110I	ENST00000307378.6	37	c.330	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931444	0.73442	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.58797	0.31;0.31;0.31;1.11;1.11	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.415688	0.29486	N	0.012019	T	0.73560	0.3602	M	0.84773	2.715	0.28749	N	0.901528	D;D;P	0.65815	0.992;0.995;0.933	P;P;P	0.61658	0.884;0.892;0.838	T	0.69079	-0.5240	10	0.23891	T	0.37	.	13.3006	0.60324	0.1682:0.8318:0.0:0.0	.	90;108;110	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	110;110;108;110;110	ENSP00000305974:M110I;ENSP00000393973:M110I;ENSP00000375088:M108I;ENSP00000416190:M110I;ENSP00000409314:M110I	ENSP00000305974:M110I	M	-	3	0	SLCO1A2	21358755	1.000000	0.71417	0.974000	0.42286	0.950000	0.60333	1.422000	0.34826	2.778000	0.95560	0.655000	0.94253	ATG	SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	C	NM_021094		21467488	-1	no_errors	ENST00000307378	ensembl	human	known	70_37	missense	SNP	0.976	T	T	21467488	C	T	21467488	3	4	34	1	0	0	0	0	1	0	0	0	14752	826	29	1	1730	1	SLCO1A2	12	21467488	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2914779	21467488	112384407	257	4724										
PDZRN4	29951	genome.wustl.edu	37	chr12	41966808	41966808	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctagtgcttacaacacagctGagagctgcagaagtactccg	10	11	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:41966808G>A	ENST00000402685.2	+	10	2235	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E483K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E485K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	743							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E485K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)											107	105	106					12																	41966808		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2227G>A	12.37:g.41966808G>A	ENSP00000384197:p.Glu743Lys		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E743K	ENST00000402685.2	37	c.2227	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882109	0.91740	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.83419	-1.72;2.82;2.8	4.99	4.99	0.66335	.	0.081432	0.50627	D	0.000102	D	0.92479	0.7612	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.994	D	0.93428	0.6783	10	0.87932	D	0	-32.5336	19.1701	0.93574	0.0:0.0:1.0:0.0	.	743;483;485	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	743;485;483	ENSP00000384197:E743K;ENSP00000439990:E485K;ENSP00000298919:E483K	ENSP00000298919:E483K	E	+	1	0	PDZRN4	40253075	1.000000	0.71417	0.914000	0.36105	0.978000	0.69477	9.813000	0.99286	2.706000	0.92434	0.650000	0.86243	GAG	PDZRN4	-	NULL		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41966808	1	no_errors	ENST00000402685	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41966808	G	A	41966808	3	1	34	1	0	0	0	0	1	0	0	0	11734	1291	45	1	2338	1	PDZRN4	12	41966808	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	20499320	41966808	91885087	258	4725										
COL2A1	1280	genome.wustl.edu	37	chr12	48380662	48380662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acctttgaagccagcaatacCaggttcacccttgaaaagag	8	11	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:48380662C>T	ENST00000380518.3	-	22	1539	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G390S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	459	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGCAATACCAGGTTCACCC	0.567																																																	0													151	153	152					12																	48380662		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1375G>A	12.37:g.48380662C>T	ENSP00000369889:p.Gly459Ser		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G459S	ENST00000380518.3	37	c.1375	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940543	0.92526	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99607	-6.27;-6.27	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97983	4.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	D	0.96689	0.9509	10	0.87932	D	0	.	15.9765	0.80071	0.0:1.0:0.0:0.0	.	390;459	P02458-1;P02458	.;CO2A1_HUMAN	S	459;390;390	ENSP00000369889:G459S;ENSP00000338213:G390S	ENSP00000338213:G390S	G	-	1	0	COL2A1	46666929	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.654000	0.67974	2.384000	0.81235	0.462000	0.41574	GGT	COL2A1	-	NULL		0.567	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48380662	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48380662	C	T	48380662	3	4	34	1	0	0	0	0	1	0	0	0	3692	594	21	4	3220	4	COL2A1	12	48380662	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6413854	48380662	85471233	259	4726										
MLL2	8085	genome.wustl.edu	37	chr12	49441780	49441780	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acagtaagggtgatagcactGagagcactgcgaacaggcaa	13	8	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:49441780G>A	ENST00000301067.7	-	14	4203	c.4204C>T	c.(4204-4206)Cag>Tag	p.Q1402*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1402	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q1129*(1)									TGATAGCACTGAGAGCACTGC	0.537																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											72	76	75					12																	49441780		2012	4189	6201	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4204C>T	12.37:g.49441780G>A	ENSP00000301067:p.Gln1402*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1402*	ENST00000301067.7	37	c.4204	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	44	11.038515	0.99507	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.82	5.82	0.92795	.	0.000000	0.34580	N	0.003858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8807	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	1402	.	ENSP00000301067:Q1402X	Q	-	1	0	MLL2	47728047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.745000	0.94114	0.655000	0.94253	CAG	MLL2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49441780	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49441780	G	A	49441780	4	1	34	1	0	0	0	0	0	1	0	0	9644	1299	45	1	12573	1	MLL2	12	49441780	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1061118	49441780	84410115	260	4727										
TUBA1C	84790	genome.wustl.edu	37	chr12	49663341	49663341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggaacacggcatccagcccGatggccagatgccaagtgac	12	13	0	2	rs542382205		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:49663341G>A	ENST00000301072.6	+	2	372	c.97G>A	c.(97-99)Gat>Aat	p.D33N	TUBA1C_ENST00000541364.1_Missense_Mutation_p.D103N|TUBA1C_ENST00000549183.1_Missense_Mutation_p.D33N|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	33					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CATCCAGCCCGATGGCCAGAT	0.587													G|||	1	0.000199681	0	0	5008	,	,		21086	0.001		0	False		,,,				2504	0																0													88	82	84					12																	49663341		2203	4297	6500	SO:0001583	missense	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.97G>A	12.37:g.49663341G>A	ENSP00000301072:p.Asp33Asn			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.D33N	ENST00000301072.6	37	c.97	CCDS8782.1	12	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765440	0.49574	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000549183;ENST00000321665	T;T;T	0.69685	-0.42;-0.42;-0.42	3.57	2.67	0.31697	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.62016	1.91	0.48087	D	0.999584	B;D	0.89917	0.255;1.0	B;D	0.91635	0.26;0.999	T	0.77943	-0.2398	10	0.66056	D	0.02	.	11.0212	0.47720	0.0972:0.0:0.9028:0.0	.	103;33	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	N	103;33;33;33	ENSP00000443475:D103N;ENSP00000301072:D33N;ENSP00000448211:D33N	ENSP00000301072:D33N	D	+	1	0	TUBA1C	47949608	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	5.441000	0.66569	1.085000	0.41206	0.485000	0.47835	GAT	TUBA1C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.587	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	G	NM_032704		49663341	1	no_errors	ENST00000301072	ensembl	human	known	70_37	missense	SNP	0.997	A	A	49663341	G	A	49663341	3	1	34	1	0	0	0	0	1	0	0	0	16776	1058	37	1	103	1	TUBA1C	12	49663341	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	221561	49663341	84188554	261	4728										
KRT85	3891	genome.wustl.edu	37	chr12	52756210	52756210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcatcgctgagggccgcctCaccctgctgctctgcctcag	12	17	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:52756210C>T	ENST00000257901.3	-	7	1198	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	KRT85_ENST00000544265.1_Missense_Mutation_p.E163K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	375	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGCCGCCTCACCCTGCTGC	0.632																																																	0													29	29	29					12																	52756210		2202	4300	6502	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1123G>A	12.37:g.52756210C>T	ENSP00000257901:p.Glu375Lys		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E375K	ENST00000257901.3	37	c.1123	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638030	0.87760	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.89270	-2.49;-2.49	4.95	4.95	0.65309	Filament (1);	0.101800	0.43260	D	0.000581	D	0.92938	0.7753	M	0.92555	3.32	0.46222	D	0.998933	B	0.24823	0.112	B	0.33799	0.17	D	0.92600	0.6090	10	0.66056	D	0.02	.	18.1966	0.89823	0.0:1.0:0.0:0.0	.	375	P78386	KRT85_HUMAN	K	375;163	ENSP00000257901:E375K;ENSP00000440240:E163K	ENSP00000257901:E375K	E	-	1	0	KRT85	51042477	1.000000	0.71417	0.900000	0.35374	0.840000	0.47671	7.818000	0.86416	2.309000	0.77851	0.561000	0.74099	GAG	KRT85	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	C	NM_002283		52756210	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52756210	C	T	52756210	3	4	34	1	0	0	0	0	1	0	0	0	8519	835	29	1	412	1	KRT85	12	52756210	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3092869	52756210	81095685	262	4729										
KRT79	338785	genome.wustl.edu	37	chr12	53227956	53227956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcactgagctgaagctggtgCgggcctgggacccactccct	13	14	1	2	rs371852565		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:53227956C>T	ENST00000330553.5	-	1	123	c.89G>A	c.(88-90)cGc>cAc	p.R30H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	30	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGCTGGTGCGGGCCTGGGA	0.642																																																	0													34	35	35					12																	53227956		2203	4299	6502	SO:0001583	missense	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.89G>A	12.37:g.53227956C>T	ENSP00000328358:p.Arg30His		Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.R30H	ENST00000330553.5	37	c.89	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259579	0.05791	.	.	ENSG00000185640	ENST00000330553	T	0.75367	-0.93	3.98	-7.96	0.01144	.	0.861244	0.10047	N	0.722716	T	0.61476	0.2350	L	0.28054	0.825	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.44086	T	0.13	.	20.7633	0.99720	0.0:0.8226:0.0:0.1774	.	30	Q5XKE5	K2C79_HUMAN	H	30	ENSP00000328358:R30H	ENSP00000328358:R30H	R	-	2	0	KRT79	51514223	0.000000	0.05858	0.005000	0.12908	0.058000	0.15608	-3.249000	0.00540	-2.020000	0.00940	-1.202000	0.01658	CGC	KRT79	-	NULL		0.642	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1	C	NM_175834		53227956	-1	no_errors	ENST00000330553	ensembl	human	known	70_37	missense	SNP	0.028	T	T	53227956	C	T	53227956	3	4	34	1	0	0	0	0	1	0	0	0	8512	768	27	2	1554	2	KRT79	12	53227956	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	471746	53227956	80623939	263	4730										
RARG	5916	genome.wustl.edu	37	chr12	53608313	53608313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggtgatgagctcttctaactGagggctcagctcatagctgt	12	9	4	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:53608313G>A	ENST00000425354.2	-	6	1040	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	RARG_ENST00000394426.1_Nonsense_Mutation_p.Q185*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q174*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q163*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q113*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	185	Hinge.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCTTCTAACTGAGGGCTCAGC	0.547																																																	0													178	159	165					12																	53608313		2203	4300	6503	SO:0001587	stop_gained	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.553C>T	12.37:g.53608313G>A	ENSP00000388510:p.Gln185*		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.Q185*	ENST00000425354.2	37	c.553	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.882801	0.98542	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	4.97	4.05	0.47172	.	0.053385	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.0115	0.58733	0.0:0.4409:0.5591:0.0	.	.	.	.	X	185;185;113;174;163;222	.	ENSP00000332695:Q113X	Q	-	1	0	RARG	51894580	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	4.578000	0.60929	1.407000	0.46875	0.655000	0.94253	CAG	RARG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.547	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53608313	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	53608313	G	A	53608313	4	1	34	1	0	0	0	0	0	1	0	0	13084	1299	45	1	831	1	RARG	12	53608313	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	380357	53608313	80243582	264	4731										
ESPL1	9700	genome.wustl.edu	37	chr12	53670603	53670603	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccacctggtagaactggctCaggtgctctgctaccacgac	10	15	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:53670603C>G	ENST00000257934.4	+	8	1991	c.1900C>G	c.(1900-1902)Cag>Gag	p.Q634E	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q634E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	634					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGAACTGGCTCAGGTGCTCTG	0.597																																					Colon(53;1069 1201 2587 5382)												0													61	66	64					12																	53670603		2202	4300	6502	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1900C>G	12.37:g.53670603C>G	ENSP00000257934:p.Gln634Glu			Missense_Mutation	SNP	pfam_Peptidase_C50	p.Q634E	ENST00000257934.4	37	c.1900	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589412	0.86851	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	M	0.76002	2.32	0.53005	D	0.999969	D	0.69078	0.997	D	0.78314	0.991	T	0.14008	-1.0488	10	0.87932	D	0	.	18.0608	0.89377	0.0:1.0:0.0:0.0	.	634	Q14674	ESPL1_HUMAN	E	634;309;634	ENSP00000257934:Q634E;ENSP00000449831:Q634E	ENSP00000257934:Q634E	Q	+	1	0	ESPL1	51956870	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.323000	0.59221	2.803000	0.96430	0.650000	0.86243	CAG	ESPL1	-	NULL		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53670603	1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53670603	C	G	53670603	3	3	34	1	0	0	0	0	1	0	0	0	5265	827	29	1	1926	1	ESPL1	12	53670603	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	62290	53670603	80181292	265	4732										
CSRP2	1466	genome.wustl.edu	37	chr12	77259933	77259933	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atggagagctacttactgcaGagaaagcagcagcggtggaa	14	7	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:77259933G>A	ENST00000311083.5	-	2	231	c.108C>T	c.(106-108)ctC>ctT	p.L36L	CSRP2_ENST00000547435.1_Silent_p.L36L|CSRP2_ENST00000552330.1_Silent_p.L36L|CSRP2_ENST00000546966.1_Silent_p.L36L	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	36	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ACTTACTGCAGAGAAAGCAGC	0.493																																																	0													94	72	79					12																	77259933		2203	4300	6503	SO:0001819	synonymous_variant	1466			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.108C>T	12.37:g.77259933G>A			Q93030	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L36	ENST00000311083.5	37	c.108	CCDS9015.1	12																																																																																			CSRP2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.493	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP2	HGNC	protein_coding	OTTHUMT00000406572.1	G	NM_001321		77259933	-1	no_errors	ENST00000311083	ensembl	human	known	70_37	silent	SNP	0.981	A	A	77259933	G	A	77259933	2	1	34	1	0	0	0	0	0	0	0	1	3972	929	33	1		1	CSRP2	12	77259933	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	23589330	77259933	56591962	266	4733										
SYT1	6857	genome.wustl.edu	37	chr12	79685803	79685803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cataggccctcaaggatgatGatgctgaaactggattgaca	11	8	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:79685803G>A	ENST00000261205.4	+	6	1024	c.367G>A	c.(367-369)Gat>Aat	p.D123N	SYT1_ENST00000393240.3_Missense_Mutation_p.D123N|SYT1_ENST00000457153.2_Missense_Mutation_p.D120N|SYT1_ENST00000552744.1_Missense_Mutation_p.D123N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	123					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CAAGGATGATGATGCTGAAAC	0.383																																																	0													109	119	115					12																	79685803		2203	4300	6503	SO:0001583	missense	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.367G>A	12.37:g.79685803G>A	ENSP00000261205:p.Asp123Asn		Q6AI31	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D123N	ENST00000261205.4	37	c.367	CCDS9017.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.575366|3.575366	0.65878|0.65878	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242|ENST00000549559	T;T;T;T;T;T|.	0.45668|.	1.03;1.03;0.89;1.03;0.89;1.03|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.090560|.	0.85682|.	D|.	0.000000|.	T|T	0.73297|0.73297	0.3569|0.3569	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P|.	0.46859|.	0.885;0.885|.	P;P|.	0.47626|.	0.552;0.552|.	T|T	0.70029|0.70029	-0.4984|-0.4984	10|5	0.42905|.	T|.	0.14|.	.|.	19.5366|19.5366	0.95255|0.95255	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	N|I	123;123;120;123;120;123|24	ENSP00000376932:D123N;ENSP00000261205:D123N;ENSP00000391056:D120N;ENSP00000447575:D123N;ENSP00000448861:D120N;ENSP00000401559:D123N|.	ENSP00000261205:D123N|.	D|M	+|+	1|3	0|0	SYT1|SYT1	78209934|78209934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.617000|2.617000	0.88574|0.88574	0.585000|0.585000	0.79938|0.79938	GAT|ATG	SYT1	-	NULL		0.383	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	G	NM_005639		79685803	1	no_errors	ENST00000261205	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79685803	G	A	79685803	3	1	34	1	0	0	0	0	1	0	0	0	15495	1290	45	1	377	1	SYT1	12	79685803	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2425870	79685803	54166092	267	4734										
CCDC59	29080	genome.wustl.edu	37	chr12	82752008	82752008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gccttcttacataccctcgcGaacgctccccacgaaggctt	7	17	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:82752008G>A	ENST00000256151.7	-	1	559	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						ATACCCTCGCGAACGCTCCCC	0.507																																																	0													67	62	63					12																	82752008		2203	4300	6503	SO:0001583	missense	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.148C>T	12.37:g.82752008G>A	ENSP00000256151:p.Arg50Cys		Q9H2V5|Q9NW62	Missense_Mutation	SNP	pfam_rRNA_processing,prints_BR22	p.R50C	ENST00000256151.7	37	c.148	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127907	0.77549	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	4.97	4.97	0.65823	.	0.167166	0.52532	D	0.000070	T	0.64046	0.2563	L	0.39898	1.24	0.46376	D	0.999017	D	0.76494	0.999	P	0.57846	0.828	T	0.68036	-0.5515	9	0.87932	D	0	-25.2561	15.1627	0.72798	0.0:0.0:1.0:0.0	.	50	Q9P031	TAP26_HUMAN	C	50	.	ENSP00000256151:R50C	R	-	1	0	CCDC59	81276139	0.999000	0.42202	0.978000	0.43139	0.670000	0.39368	5.257000	0.65473	2.306000	0.77630	0.585000	0.79938	CGC	CCDC59	-	prints_BR22		0.507	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	HGNC	protein_coding	OTTHUMT00000408186.1	G	NM_014167		82752008	-1	no_errors	ENST00000256151	ensembl	human	known	70_37	missense	SNP	0.999	A	A	82752008	G	A	82752008	3	1	34	1	0	0	0	0	1	0	0	0	2834	1058	37	1	593	1	CCDC59	12	82752008	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3066205	82752008	51099887	268	4735										
LRRIQ1	84125	genome.wustl.edu	37	chr12	85518053	85518053	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcttctactcttgtgcacgtGaaggtgagccagactcacca	9	12	4	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:85518053G>A	ENST00000393217.2	+	17	3824	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1255										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTGTGCACGTGAAGGTGAGCC	0.458																																																	0													106	108	108					12																	85518053		2203	4300	6503	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3763G>A	12.37:g.85518053G>A	ENSP00000376910:p.Glu1255Lys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1255K	ENST00000393217.2	37	c.3763	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214204	0.39102	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.58506	0.33	5.61	-1.72	0.08107	.	0.790692	0.11164	N	0.592721	T	0.41096	0.1144	L	0.27053	0.805	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.16722	0.016;0.016	T	0.19128	-1.0315	10	0.39692	T	0.17	.	10.5479	0.45070	0.4141:0.0:0.5859:0.0	.	1255;1230	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	1255;1230;1255	ENSP00000376910:E1255K	ENSP00000256007:E1255K	E	+	1	0	LRRIQ1	84042184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.575000	0.23729	-0.730000	0.04869	0.585000	0.79938	GAA	LRRIQ1	-	NULL		0.458	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	G	NM_032165		85518053	1	no_errors	ENST00000393217	ensembl	human	known	70_37	missense	SNP	0.000	A	A	85518053	G	A	85518053	3	1	34	1	0	0	0	0	1	0	0	0	9052	1291	45	1	3825	1	LRRIQ1	12	85518053	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2766045	85518053	48333842	269	4736										
METAP2	10988	genome.wustl.edu	37	chr12	95877012	95877012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggagatggcgatggagatgGagcaactggaaagaagaaga	17	3	0	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:95877012G>A	ENST00000323666.5	+	3	510	c.281G>A	c.(280-282)gGa>gAa	p.G94E	METAP2_ENST00000261220.9_Intron|METAP2_ENST00000546753.1_Missense_Mutation_p.G94E|METAP2_ENST00000551840.1_Missense_Mutation_p.G93E|METAP2_ENST00000550777.1_Missense_Mutation_p.G58E	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GATGGAGATGGAGCAACTGGA	0.363																																																	0													134	128	130					12																	95877012		2203	4300	6503	SO:0001583	missense	10988			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.281G>A	12.37:g.95877012G>A	ENSP00000325312:p.Gly94Glu			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.G94E	ENST00000323666.5	37	c.281	CCDS9052.1	12	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284261	0.23392	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	4.99	4.1	0.47936	.	0.351646	0.28470	N	0.015235	T	0.49389	0.1554	N	0.10645	0.015	0.42572	D	0.99318	D;D;B;B	0.76494	0.999;0.997;0.062;0.037	D;D;B;B	0.80764	0.994;0.994;0.055;0.025	T	0.46456	-0.9190	9	0.18276	T	0.48	-16.2397	13.338	0.60528	0.0:0.1589:0.8411:0.0	.	94;58;93;94	B4DUX5;F8VRR3;F8VQZ7;P50579	.;.;.;AMPM2_HUMAN	E	94;94;122;70;58;93	.	ENSP00000325312:G94E	G	+	2	0	METAP2	94401143	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.514000	0.53422	1.424000	0.47217	0.591000	0.81541	GGA	METAP2	-	NULL		0.363	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1	G	NM_006838		95877012	1	no_errors	ENST00000323666	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95877012	G	A	95877012	3	1	34	1	0	0	0	0	1	0	0	0	9510	1174	41	1	291	1	METAP2	12	95877012	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	10358959	95877012	37974883	270	4737										
CCDC38	120935	genome.wustl.edu	37	chr12	96292426	96292426	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcatcatcttggagctttttCtctgctttttttagttgccg	8	9	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:96292426C>G	ENST00000344280.3	-	6	1010	c.453G>C	c.(451-453)gaG>gaC	p.E151D	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	151										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGCTTTTTCTCTGCTTTTT	0.403																																																	0													187	174	178					12																	96292426		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.453G>C	12.37:g.96292426C>G	ENSP00000345470:p.Glu151Asp		Q8N835	Missense_Mutation	SNP	NULL	p.E151D	ENST00000344280.3	37	c.453	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203682	0.38905	.	.	ENSG00000165972	ENST00000344280	T	0.19394	2.15	5.66	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.30031	-0.9992	10	0.48119	T	0.1	-33.4068	7.3457	0.26662	0.0:0.3362:0.0:0.6638	.	151	Q502W7	CCD38_HUMAN	D	151	ENSP00000345470:E151D	ENSP00000345470:E151D	E	-	3	2	CCDC38	94816557	0.994000	0.37717	0.750000	0.31169	0.004000	0.04260	0.533000	0.23082	0.019000	0.15079	-0.339000	0.08088	GAG	CCDC38	-	NULL		0.403	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	C	NM_182496		96292426	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.985	G	G	96292426	C	G	96292426	3	3	34	1	0	0	0	0	1	0	0	0	2815	912	32	1	1282	1	CCDC38	12	96292426	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	415414	96292426	37559469	271	4738										
C12orf63	144535	genome.wustl.edu	37	chr12	97084972	97084972	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgctcaatatgaaatcactCagcttctcccaggcattgaa	6	11	4	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:97084972C>G	ENST00000524981.4	+	44	6171	c.6148C>G	c.(6148-6150)Cag>Gag	p.Q2050E				Q96N23	CL055_HUMAN		0																	TGAAATCACTCAGCTTCTCCC	0.383																																																	0													135	124	128					12																	97084972		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.6148C>G	12.37:g.97084972C>G	ENSP00000431759:p.Gln2050Glu			Missense_Mutation	SNP	NULL	p.Q475E	ENST00000524981.4	37	c.1423		12	.	.	.	.	.	.	.	.	.	.	C	0.340	-0.950803	0.02285	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.73	4.79	0.61399	.	0.227351	0.36002	N	0.002844	T	0.13798	0.0334	.	.	.	0.27950	N	0.937171	B	0.29136	0.234	B	0.25506	0.061	T	0.24512	-1.0158	8	0.02654	T	1	-15.6009	9.1269	0.36821	0.2399:0.6419:0.1182:0.0	.	475	Q6ZTY8	CL063_HUMAN	E	2050;475	.	ENSP00000345466:Q475E	Q	+	1	0	C12orf63	95609103	0.920000	0.31207	1.000000	0.80357	0.011000	0.07611	2.154000	0.42291	2.854000	0.98071	0.655000	0.94253	CAG	C12orf55	-	NULL		0.383	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97084972	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.918	G	G	97084972	C	G	97084972	3	3	34	1	0	0	0	0	1	0	0	0	1710	827	29	1	1461	1	C12orf63	12	97084972	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	792546	97084972	36766923	272	4739										
APAF1	317	genome.wustl.edu	37	chr12	99106099	99106099	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgcctcatttttcattagctCattaatggaagaacaggtca	7	8	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:99106099C>T	ENST00000551964.1	+	21	3580	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.L905L|APAF1_ENST00000547045.1_Silent_p.L905L|APAF1_ENST00000359972.2_Silent_p.L894L|APAF1_ENST00000550527.1_Silent_p.L937L|APAF1_ENST00000357310.1_Silent_p.L905L|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Silent_p.L905L	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	948					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCATTAGCTCATTAATGGAA	0.353																																																	0													100	89	93					12																	99106099		2203	4300	6503	SO:0001819	synonymous_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2844C>T	12.37:g.99106099C>T			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.L948	ENST00000551964.1	37	c.2844	CCDS9069.1	12																																																																																			APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom		0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99106099	1	no_errors	ENST00000551964	ensembl	human	known	70_37	silent	SNP	0.995	T	T	99106099	C	T	99106099	2	4	34	1	0	0	0	0	0	0	0	1	755	813	29	1		1	APAF1	12	99106099	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2021127	99106099	34745796	273	4740										
NCOR2	9612	genome.wustl.edu	37	chr12	124968228	124968228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtcaggcagcagctctagccGagggcgcttgctttcaatga	13	11	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:124968228G>A	ENST00000405201.1	-	3	325	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	NCOR2_ENST00000397355.1_Missense_Mutation_p.R109W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R109W|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000356219.3_Missense_Mutation_p.R109W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R109W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	109					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCTCTAGCCGAGGGCGCTTG	0.652																																																	0													41	53	49					12																	124968228		2040	4197	6237	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.325C>T	12.37:g.124968228G>A	ENSP00000384018:p.Arg109Trp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R109W	ENST00000405201.1	37	c.325	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123446	0.37436	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	T;T;T;T;T;T	0.46819	1.64;1.88;1.64;1.88;1.88;0.86	4.92	4.92	0.64577	.	0.000000	0.64402	U	0.000001	T	0.65760	0.2722	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	T	0.69213	-0.5204	10	0.87932	D	0	-30.24	13.1446	0.59454	0.0:0.0:0.8401:0.1599	.	109;109;109	C9J0Q5;C9J239;C9JFD3	.;.;.	W	109;109;109;109;109;109;109;109;30	ENSP00000384018:R109W;ENSP00000384202:R109W;ENSP00000348551:R109W;ENSP00000380513:R109W;ENSP00000400281:R109W;ENSP00000402808:R109W	ENSP00000348551:R109W	R	-	1	2	NCOR2	123534181	1.000000	0.71417	0.933000	0.37362	0.873000	0.50193	4.203000	0.58453	2.289000	0.77006	0.455000	0.32223	CGG	NCOR2	-	NULL		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124968228	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	0.971	A	A	124968228	G	A	124968228	3	1	34	1	0	0	0	0	1	0	0	0	10260	1057	37	1	7423	1	NCOR2	12	124968228	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	25862129	124968228	8883667	274	4741										
RAN	5901	genome.wustl.edu	37	chr12	131360460	131360460	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgctctcccggatgaggatGatgacctgtgagaatgaagc	13	9	1	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:131360460G>A	ENST00000543796.1	+	7	898	c.640G>A	c.(640-642)Gat>Aat	p.D214N	RAN_ENST00000254675.3_Missense_Mutation_p.D126N|RAN_ENST00000541630.1_Missense_Mutation_p.D126N|RAN_ENST00000392369.2_Missense_Mutation_p.D214N|RAN_ENST00000392367.3_Missense_Mutation_p.D231N			P62826	RAN_HUMAN	RAN, member RAS oncogene family	214					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GGATGAGGATGATGACCTGTG	0.493																																																	0													130	122	125					12																	131360460		2203	4300	6503	SO:0001583	missense	5901			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.640G>A	12.37:g.131360460G>A	ENSP00000446215:p.Asp214Asn		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D214N	ENST00000543796.1	37	c.640	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902762	0.72754	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000392367	T;T;D;T;D;T	0.85013	-0.59;-0.65;-1.93;-0.59;-1.93;-0.71	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.93720	3.45	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.15052	0.012;0.012	D	0.88646	0.3179	10	0.52906	T	0.07	-26.7775	16.0665	0.80887	0.0:0.0:1.0:0.0	.	214;214	A8K3Z8;P62826	.;RAN_HUMAN	N	214;232;126;214;126;231	ENSP00000446215:D214N;ENSP00000396127:D232N;ENSP00000441210:D126N;ENSP00000376176:D214N;ENSP00000254675:D126N;ENSP00000376174:D231N	ENSP00000254675:D126N	D	+	1	0	RAN	129926413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.046000	0.93817	2.095000	0.63458	0.655000	0.94253	GAT	RAN	-	smart_Ran_GTPase		0.493	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	G	NM_006325		131360460	1	no_errors	ENST00000392369	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131360460	G	A	131360460	3	1	34	1	0	0	0	0	1	0	0	0	13054	1290	45	1	662	1	RAN	12	131360460	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6392232	131360460	2491435	275	4742										
PAN3	255967	genome.wustl.edu	37	chr13	28841480	28841480	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	catgctggaggagaaactatGatgagcagacactttaatga	11	6	0	5			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:28841480G>A	ENST00000380958.3	+	12	1886	c.1734G>A	c.(1732-1734)atG>atA	p.M578I	PAN3_ENST00000282391.5_Missense_Mutation_p.M266I|PAN3_ENST00000399613.1_Missense_Mutation_p.M378I	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAGAAACTATGATGAGCAGAC	0.373																																																	0													139	129	132					13																	28841480		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1734G>A	13.37:g.28841480G>A	ENSP00000370345:p.Met578Ile			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.M578I	ENST00000380958.3	37	c.1734	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189975	0.58017	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.18174	2.23;2.23;2.23	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112151	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25890	0.77	0.80722	D	1	B;B;B;B	0.26775	0.022;0.04;0.035;0.159	B;B;B;B	0.26517	0.022;0.019;0.016;0.07	T	0.04178	-1.0971	10	0.87932	D	0	-3.2194	19.5331	0.95237	0.0:0.0:1.0:0.0	.	578;578;266;524	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	I	578;378;266	ENSP00000370345:M578I;ENSP00000382522:M378I;ENSP00000282391:M266I	ENSP00000282391:M266I	M	+	3	0	PAN3	27739480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.626000	0.88956	0.650000	0.86243	ATG	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom		0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	G	NM_175854		28841480	1	no_errors	ENST00000380958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28841480	G	A	28841480	3	1	34	1	0	0	0	0	1	0	0	0	11439	1290	45	1	1780	1	PAN3	13	28841480	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		28841480	86328398	276	4743										
FREM2	341640	genome.wustl.edu	37	chr13	39263924	39263924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	accgagctgggaatgtggctCcaggtacctttaccctttac	10	12	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:39263924C>T	ENST00000280481.7	+	1	2659	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	815					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAATGTGGCTCCAGGTACCTT	0.547																																																	0													80	82	81					13																	39263924		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2443C>T	13.37:g.39263924C>T	ENSP00000280481:p.Pro815Ser		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P815S	ENST00000280481.7	37	c.2443	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787377	0.16258	.	.	ENSG00000150893	ENST00000280481	T	0.25749	1.78	5.8	3.08	0.35506	.	0.287283	0.36134	N	0.002763	T	0.11196	0.0273	N	0.17764	0.52	0.29632	N	0.845342	B	0.06786	0.001	B	0.09377	0.004	T	0.21143	-1.0254	10	0.10377	T	0.69	.	2.3831	0.04359	0.1291:0.2986:0.3717:0.2006	.	815	Q5SZK8	FREM2_HUMAN	S	815	ENSP00000280481:P815S	ENSP00000280481:P815S	P	+	1	0	FREM2	38161924	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	0.444000	0.21661	0.761000	0.33130	0.655000	0.94253	CCA	FREM2	-	NULL		0.547	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	C	NM_207361		39263924	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.965	T	T	39263924	C	T	39263924	3	4	34	1	0	0	0	0	1	0	0	0	6063	855	30	1	2445	1	FREM2	13	39263924	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	10422444	39263924	75905954	277	4744										
MRPS31	10240	genome.wustl.edu	37	chr13	41341071	41341071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cactgtcttggctctctgaaGtctccttggaagtctcctca	8	13	5	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:41341071G>A	ENST00000323563.6	-	2	287	c.251C>T	c.(250-252)aCt>aTt	p.T84I		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	84						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GCTCTCTGAAGTCTCCTTGGA	0.373																																																	0													143	138	140					13																	41341071		2203	4299	6502	SO:0001583	missense	10240			Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"Mitochondrial ribosomal proteins / small subunits"	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.251C>T	13.37:g.41341071G>A	ENSP00000315397:p.Thr84Ile		B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	NULL	p.T84I	ENST00000323563.6	37	c.251	CCDS9372.1	13	.	.	.	.	.	.	.	.	.	.	G	0.460	-0.889431	0.02511	.	.	ENSG00000102738	ENST00000323563	T	0.30714	1.52	3.57	1.66	0.24008	.	0.759593	0.12533	N	0.460609	T	0.28928	0.0718	M	0.72479	2.2	0.09310	N	1	B	0.17852	0.024	B	0.17433	0.018	T	0.26780	-1.0093	10	0.38643	T	0.18	.	4.5946	0.12323	0.1301:0.0:0.6494:0.2204	.	84	Q92665	RT31_HUMAN	I	84	ENSP00000315397:T84I	ENSP00000315397:T84I	T	-	2	0	MRPS31	40239071	0.006000	0.16342	0.005000	0.12908	0.066000	0.16364	0.758000	0.26447	0.551000	0.29008	0.563000	0.77884	ACT	MRPS31	-	NULL		0.373	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS31	HGNC	protein_coding	OTTHUMT00000044640.2	G			41341071	-1	no_errors	ENST00000323563	ensembl	human	known	70_37	missense	SNP	0.001	A	A	41341071	G	A	41341071	3	1	34	1	0	0	0	0	1	0	0	0	9864	1029	36	4	960	4	MRPS31	13	41341071	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2077147	41341071	73828807	278	4745										
CPB2	1361	genome.wustl.edu	37	chr13	46627829	46627829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggtgggtttgatgtaacgctCcggcagcaagaatccgtatg	14	8	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:46627829C>T	ENST00000181383.4	-	11	1208	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CPB2-AS1_ENST00000415033.2_RNA|ZC3H13_ENST00000282007.3_5'Flank|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|ZC3H13_ENST00000242848.4_5'Flank|CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	398					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATGTAACGCTCCGGCAGCAAG	0.443																																																	0													114	115	115					13																	46627829		2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1192G>A	13.37:g.46627829C>T	ENSP00000181383:p.Glu398Lys		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E398K	ENST00000181383.4	37	c.1192	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615034	0.28712	.	.	ENSG00000080618	ENST00000181383	T	0.11821	2.74	5.84	2.83	0.33086	Peptidase M14, carboxypeptidase A (2);	0.431318	0.27725	N	0.018102	T	0.12944	0.0314	L	0.58354	1.805	0.30302	N	0.789328	B	0.09022	0.002	B	0.08055	0.003	T	0.08953	-1.0697	10	0.72032	D	0.01	.	5.3243	0.15898	0.1245:0.34:0.45:0.0856	.	398	Q96IY4	CBPB2_HUMAN	K	398	ENSP00000181383:E398K	ENSP00000181383:E398K	E	-	1	0	CPB2	45525830	0.497000	0.26067	0.007000	0.13788	0.158000	0.22134	1.014000	0.29950	0.697000	0.31718	-0.305000	0.09177	GAG	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.443	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	C	NM_001872		46627829	-1	no_errors	ENST00000181383	ensembl	human	known	70_37	missense	SNP	0.024	T	T	46627829	C	T	46627829	3	4	34	1	0	0	0	0	1	0	0	0	3802	864	30	1	83	1	CPB2	13	46627829	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5286758	46627829	68542049	279	4746										
DIAPH3	81624	genome.wustl.edu	37	chr13	60453398	60453398	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaggttaaatccgaaggtttGagcattccgggagccagcat	12	8	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:60453398G>A	ENST00000400324.4	-	21	2792	c.2572C>T	c.(2572-2574)Caa>Taa	p.Q858*	DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.Q858*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.Q858*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.Q812*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.Q847*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.Q788*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	858	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CCGAAGGTTTGAGCATTCCGG	0.398																																																	0													99	92	94					13																	60453398		1855	4105	5960	SO:0001587	stop_gained	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2572C>T	13.37:g.60453398G>A	ENSP00000383178:p.Gln858*		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Nonsense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.Q858*	ENST00000400324.4	37	c.2572	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.245542	0.98724	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	858;858;847;812;788;847;788;812;858;595;858	.	ENSP00000267214:Q595X	Q	-	1	0	DIAPH3	59351399	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	CAA	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.398	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	G	NM_001042517		60453398	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	60453398	G	A	60453398	4	1	34	1	0	0	0	0	0	1	0	0	4530	1299	45	1	1061	1	DIAPH3	13	60453398	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	13825569	60453398	54716480	280	4747										
DIAPH3	81624	genome.wustl.edu	37	chr13	60453560	60453560	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttcaaactgaagcttaaagaGaatagcactgagccgtggcc	10	9	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:60453560G>C	ENST00000400324.4	-	21	2630	c.2410C>G	c.(2410-2412)Ctc>Gtc	p.L804V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.L804V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.L804V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.L758V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L793V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L734V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	804	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGCTTAAAGAGAATAGCACTG	0.408																																																	0													91	85	87					13																	60453560		1910	4126	6036	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2410C>G	13.37:g.60453560G>C	ENSP00000383178:p.Leu804Val		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L804V	ENST00000400324.4	37	c.2410	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490983	0.84962	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;0.76	6.07	6.07	0.98685	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	M	0.87682	2.9	0.58432	D	0.999993	P;D;D	0.76494	0.457;0.982;0.999	B;D;D	0.77004	0.189;0.951;0.989	T	0.80859	-0.1194	10	0.25751	T	0.34	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	541;541;804	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	V	804;804;793;758;734;793;734;758;804;541;804	ENSP00000383178:L804V;ENSP00000383184:L804V;ENSP00000367141:L793V;ENSP00000383173:L734V;ENSP00000383174:L758V;ENSP00000267215:L804V	ENSP00000267214:L541V	L	-	1	0	DIAPH3	59351561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	CTC	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	G	NM_001042517		60453560	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60453560	G	C	60453560	3	2	34	1	0	0	0	0	1	0	0	0	4530	942	33	1	1223	1	DIAPH3	13	60453560	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	162	60453560	54716318	281	4748										
TDRD3	81550	genome.wustl.edu	37	chr13	61103127	61103127	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcattggtgttccaaatggaGaagtagaaatgccactgaaa	10	6	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:61103127G>A	ENST00000196169.3	+	11	2277	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	TDRD3_ENST00000377881.2_Missense_Mutation_p.E497K|TDRD3_ENST00000535286.1_Missense_Mutation_p.E590K|TDRD3_ENST00000377894.2_Missense_Mutation_p.E497K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	497					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TCCAAATGGAGAAGTAGAAAT	0.353																																					Colon(36;164 906 35820 50723)												0													49	48	49					13																	61103127		2203	4300	6503	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1489G>A	13.37:g.61103127G>A	ENSP00000196169:p.Glu497Lys		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.E590K	ENST00000196169.3	37	c.1768	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069322	0.55539	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93811	-3.28;-3.28;-3.28;-3.29	5.84	5.84	0.93424	.	0.385133	0.30235	N	0.010092	D	0.91573	0.7338	L	0.56769	1.78	0.58432	D	0.999996	P;P;P	0.43826	0.818;0.775;0.544	B;B;B	0.36567	0.228;0.225;0.084	D	0.90297	0.4327	10	0.33141	T	0.24	-19.0516	20.5276	0.99231	0.0:0.0:1.0:0.0	.	590;496;497	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	497;497;497;590	ENSP00000196169:E497K;ENSP00000367113:E497K;ENSP00000367126:E497K;ENSP00000440190:E590K	ENSP00000196169:E497K	E	+	1	0	TDRD3	60001128	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.492000	0.81482	2.937000	0.99478	0.650000	0.86243	GAA	TDRD3	-	NULL		0.353	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	G	NM_030794		61103127	1	no_errors	ENST00000535286	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61103127	G	A	61103127	3	1	34	1	0	0	0	0	1	0	0	0	15762	943	33	1	1810	1	TDRD3	13	61103127	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	649567	61103127	54066751	282	4749										
KLHL1	57626	genome.wustl.edu	37	chr13	70681766	70681766	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtggaaggagacgggtggctGaagagtttccagcggagtcg	19	6	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:70681766G>A	ENST00000377844.4	-	1	825	c.66C>T	c.(64-66)ttC>ttT	p.F22F	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	22					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACGGGTGGCTGAAGAGTTTCC	0.622																																																	0													26	31	30					13																	70681766		2203	4300	6503	SO:0001819	synonymous_variant	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.66C>T	13.37:g.70681766G>A			A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F22	ENST00000377844.4	37	c.66	CCDS9445.1	13																																																																																			KLHL1	-	NULL		0.622	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681766	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70681766	G	A	70681766	2	1	34	1	0	0	0	0	0	0	0	1	8385	1281	45	1		1	KLHL1	13	70681766	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	9578639	70681766	44488112	283	4750										
LIG4	3981	genome.wustl.edu	37	chr13	108862394	108862394	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttacttcattcttagtatgaGcttgtgttttctgcactatt	6	7	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:108862394G>C	ENST00000356922.4	-	2	1495	c.1223C>G	c.(1222-1224)gCt>gGt	p.A408G	LIG4_ENST00000405925.1_Missense_Mutation_p.A408G|LIG4_ENST00000442234.1_Missense_Mutation_p.A408G	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	408					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTTAGTATGAGCTTGTGTTTT	0.353								Non-homologous end-joining																																									0													112	114	113					13																	108862394		2203	4299	6502	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1223C>G	13.37:g.108862394G>C	ENSP00000349393:p.Ala408Gly		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.A408G	ENST00000356922.4	37	c.1223	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	1.616	-0.522805	0.04141	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.84516	-1.86;-1.86;-1.86	5.49	4.64	0.57946	DNA ligase, ATP-dependent, central (2);	0.053286	0.85682	D	0.000000	T	0.76492	0.3995	N	0.25485	0.75	0.47698	D	0.999499	B	0.17852	0.024	B	0.24006	0.05	T	0.69038	-0.5251	10	0.10902	T	0.67	.	15.3678	0.74538	0.0:0.14:0.86:0.0	.	408	P49917	DNLI4_HUMAN	G	408	ENSP00000385955:A408G;ENSP00000402030:A408G;ENSP00000349393:A408G	ENSP00000349393:A408G	A	-	2	0	LIG4	107660395	1.000000	0.71417	0.991000	0.47740	0.430000	0.31655	4.554000	0.60760	1.294000	0.44707	-0.189000	0.12847	GCT	LIG4	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108862394	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108862394	G	C	108862394	3	2	34	1	0	0	0	0	1	0	0	0	8803	971	34	4	1516	4	LIG4	13	108862394	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	38180628	108862394	6307484	284	4751										
ARHGEF7	8874	genome.wustl.edu	37	chr13	111857660	111857660	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgatgcaaatgatttgtatCaggggcagaattttaacaag	10	4	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:111857660C>G	ENST00000375741.2	+	4	590	c.340C>G	c.(340-342)Cag>Gag	p.Q114E	ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Q93E|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Q11E|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Q64E|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	114	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGATTTGTATCAGGGGCAGAA	0.388																																																	0													137	135	135					13																	111857660		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.340C>G	13.37:g.111857660C>G	ENSP00000364893:p.Gln114Glu		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.Q114E	ENST00000375741.2	37	c.340	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719086	0.68844	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	D;T;T;T;T	0.94376	-3.41;0.76;0.74;1.0;0.78	5.69	5.69	0.88448	Calponin homology domain (4);	0.061135	0.64402	D	0.000003	D	0.88654	0.6495	N	0.04669	-0.19	0.80722	D	1	B;D;P;B	0.53151	0.354;0.958;0.542;0.383	B;P;B;B	0.47430	0.119;0.547;0.348;0.14	D	0.90687	0.4610	10	0.52906	T	0.07	.	19.819	0.96583	0.0:1.0:0.0:0.0	.	11;64;114;93	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	E	93;114;64;91;11;11	ENSP00000325994:Q93E;ENSP00000364893:Q114E;ENSP00000364891:Q64E;ENSP00000389890:Q11E;ENSP00000364889:Q11E	ENSP00000325994:Q93E	Q	+	1	0	ARHGEF7	110655661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.849000	0.75414	2.691000	0.91804	0.655000	0.94253	CAG	ARHGEF7	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.388	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111857660	1	no_errors	ENST00000375741	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111857660	C	G	111857660	3	3	34	1	0	0	0	0	1	0	0	0	911	827	29	1	354	1	ARHGEF7	13	111857660	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2995266	111857660	3312218	285	4752										
OR4K1	79544	genome.wustl.edu	37	chr14	20404526	20404526	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caggtcctccagtgggtcatCtaaggctctttctacattaa	8	11	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:20404526C>G	ENST00000285600.4	+	1	760	c.701C>G	c.(700-702)tCt>tGt	p.S234C		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTGGGTCATCTAAGGCTCTT	0.438																																																	0													132	124	126					14																	20404526		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.701C>G	14.37:g.20404526C>G	ENSP00000285600:p.Ser234Cys		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S234C	ENST00000285600.4	37	c.701	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043872	0.36085	.	.	ENSG00000155249	ENST00000285600	T	0.00174	8.62	4.96	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.231712	0.30890	N	0.008664	T	0.00384	0.0012	M	0.62209	1.925	0.09310	N	1	P	0.44986	0.847	P	0.57846	0.828	T	0.42396	-0.9454	10	0.62326	D	0.03	.	11.1468	0.48434	0.0:0.9099:0.0:0.0901	.	234	Q8NGD4	OR4K1_HUMAN	C	234	ENSP00000285600:S234C	ENSP00000285600:S234C	S	+	2	0	OR4K1	19474366	0.000000	0.05858	0.934000	0.37439	0.636000	0.38137	-0.345000	0.07770	1.323000	0.45263	0.563000	0.77884	TCT	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20404526	1	no_errors	ENST00000285600	ensembl	human	known	70_37	missense	SNP	0.186	G	G	20404526	C	G	20404526	3	3	34	1	0	0	0	0	1	0	0	0	11091	913	32	1	703	1	OR4K1	14	20404526	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		20404526	86945014	286	4753										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21780021	21780021	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcagcccatgaggccctcctCaagcaagtgaatgagctcag	11	13	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:21780021C>G	ENST00000400017.2	+	8	969	c.969C>G	c.(967-969)ctC>ctG	p.L323L	RPGRIP1_ENST00000206660.6_Silent_p.L323L|RPGRIP1_ENST00000556336.1_Silent_p.L296L|RPGRIP1_ENST00000557771.1_Silent_p.L296L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	323					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGCCCTCCTCAAGCAAGTGA	0.507																																																	0													45	45	45					14																	21780021		1933	4145	6078	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.969C>G	14.37:g.21780021C>G			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L323	ENST00000400017.2	37	c.969	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21780021	1	no_errors	ENST00000206660	ensembl	human	known	70_37	silent	SNP	0.001	G	G	21780021	C	G	21780021	2	3	34	1	0	0	0	0	0	0	0	1	13579	813	29	1		1	RPGRIP1	14	21780021	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1375495	21780021	85569519	287	4754										
CDH24	64403	genome.wustl.edu	37	chr14	23523479	23523479	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggtctgggtcctgggcccgGagccggcccaccagtgtgcc	16	15	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:23523479G>A	ENST00000267383.5	-	5	935	c.843C>T	c.(841-843)ctC>ctT	p.L281L	CDH24_ENST00000554034.1_Silent_p.L281L|CDH24_ENST00000487137.2_Silent_p.L281L|CDH24_ENST00000397359.3_Silent_p.L281L			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTGGGCCCGGAGCCGGCCCA	0.632																																																	0													79	84	82					14																	23523479		2203	4300	6503	SO:0001819	synonymous_variant	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.843C>T	14.37:g.23523479G>A			D3DS44|Q86UP1|Q9NT84	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L281	ENST00000267383.5	37	c.843	CCDS9585.1	14																																																																																			CDH24	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	G	NM_022478		23523479	-1	no_errors	ENST00000267383	ensembl	human	known	70_37	silent	SNP	0.077	A	A	23523479	G	A	23523479	2	1	34	1	0	0	0	0	0	0	0	1	3114	1161	41	1		1	CDH24	14	23523479	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1743458	23523479	83826061	288	4755										
HEATR5A	25938	genome.wustl.edu	37	chr14	31806814	31806814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	taacaagtaggggctacaaaGattcacctgaaaaataccat	7	8	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:31806814G>C	ENST00000389961.3	-	21	3216	c.3217C>G	c.(3217-3219)Ctt>Gtt	p.L1073V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.L1079V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1073V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.L1079V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L786V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1073										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GGGCTACAAAGATTCACCTGA	0.423																																																	0													54	51	52					14																	31806814		1863	4113	5976	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3217C>G	14.37:g.31806814G>C	ENSP00000374611:p.Leu1073Val		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1073V	ENST00000389961.3	37	c.3217		14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.8|20.8|20.8	4.048952|4.048952|4.048952	0.75846|0.75846|0.75846	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000538864;ENST00000549719|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	.|T;T;T;T;T|.	.|0.09538|.	.|2.97;2.97;2.97;2.97;2.97|.	5.29|5.29|5.29	5.29|5.29|5.29	0.74685|0.74685|0.74685	.|Armadillo-like helical (1);Armadillo-type fold (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.82328|0.82328|0.82328	0.5013|0.5013|0.5013	M|M|M	0.84219|0.84219|0.84219	2.685|2.685|2.685	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|.	.|0.76494|.	.|0.999;0.998;0.999|.	.|D;D;D|.	.|0.87578|.	.|0.998;0.988;0.976|.	D|D|D	0.83608|0.83608|0.83608	0.0132|0.0132|0.0132	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	18.9278|18.9278|18.9278	0.92552|0.92552|0.92552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1079;1073;1073|.	.|B5MC49;Q86XA9-2;Q86XA9|.	.|.;.;HTR5A_HUMAN|.	M|V|C	706;106|1073;1073;786;1079;1079|721	.|ENSP00000374611:L1073V;ENSP00000405407:L1073V;ENSP00000408681:L786V;ENSP00000437968:L1079V;ENSP00000384646:L1079V|.	.|ENSP00000374611:L1073V|.	I|L|S	-|-|-	3|1|2	3|0|0	HEATR5A|HEATR5A|HEATR5A	30876565|30876565|30876565	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	4.861000|4.861000|4.861000	0.62969|0.62969|0.62969	2.484000|2.484000|2.484000	0.83849|0.83849|0.83849	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	ATC|CTT|TCT	HEATR5A	-	superfamily_ARM-type_fold		0.423	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		G	NM_015473		31806814	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31806814	G	C	31806814	3	2	34	1	0	0	0	0	1	0	0	0	7051	942	33	1	2965	1	HEATR5A	14	31806814	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	8283335	31806814	75542726	289	4756										
SNX6	58533	genome.wustl.edu	37	chr14	35037129	35037129	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgggaagtttcggcctgtaGaacatctttattttttgctc	9	7	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:35037129G>A	ENST00000362031.4	-	12	1078	c.1048C>T	c.(1048-1050)Cta>Tta	p.L350L	SNX6_ENST00000355110.5_Silent_p.L226L|SNX6_ENST00000396534.3_Silent_p.L222L|SNX6_ENST00000396526.3_Silent_p.L222L	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	338					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TCGGCCTGTAGAACATCTTTA	0.343																																																	0													80	80	80					14																	35037129		2202	4300	6502	SO:0001819	synonymous_variant	58533			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1048C>T	14.37:g.35037129G>A			C0H5W9|Q9Y449	Silent	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.L350	ENST00000362031.4	37	c.1048	CCDS41942.1	14																																																																																			SNX6	-	pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6		0.343	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	HGNC	protein_coding	OTTHUMT00000276642.3	G			35037129	-1	no_errors	ENST00000362031	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35037129	G	A	35037129	2	1	34	1	0	0	0	0	0	0	0	1	14936	933	33	1		1	SNX6	14	35037129	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3230315	35037129	72312411	290	4757										
NFKBIA	4792	genome.wustl.edu	37	chr14	35872446	35872446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctggccaggcagccctgctCacaggcaaggtgtagggggg	18	11	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:35872446C>T	ENST00000216797.5	-	3	558	c.457G>A	c.(457-459)Gag>Aag	p.E153K	NFKBIA_ENST00000557389.1_Missense_Mutation_p.E63K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E153K|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	153					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CAGCCCTGCTCACAGGCAAGG	0.582																																																	0													113	115	114					14																	35872446		2203	4300	6503	SO:0001583	missense	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.457G>A	14.37:g.35872446C>T	ENSP00000216797:p.Glu153Lys		B2R8L6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E153K	ENST00000216797.5	37	c.457	CCDS9656.1	14	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763144	0.31228	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.65178	-0.14;-0.14;-0.14	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.35335	0.0928	N	0.12182	0.205	0.37951	D	0.932645	B;B	0.30741	0.041;0.293	B;B	0.20955	0.019;0.032	T	0.41395	-0.9511	9	0.02654	T	1	-13.9588	10.4274	0.44387	0.0:0.7833:0.145:0.0717	.	153;153	G3V3I4;P25963	.;IKBA_HUMAN	K	153;153;63	ENSP00000216797:E153K;ENSP00000451257:E153K;ENSP00000450514:E63K	ENSP00000216797:E153K	E	-	1	0	NFKBIA	34942197	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.271000	0.51608	2.882000	0.98803	0.655000	0.94253	GAG	NFKBIA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	C	NM_020529		35872446	-1	no_errors	ENST00000216797	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35872446	C	T	35872446	3	4	34	1	0	0	0	0	1	0	0	0	10401	835	29	1	512	1	NFKBIA	14	35872446	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	835317	35872446	71477094	291	4758										
MBIP	51562	genome.wustl.edu	37	chr14	36786015	36786015	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caccacatcatctctgaggtCaagcttcaaaggggcaaacc	8	13	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:36786015C>G	ENST00000416007.4	-	2	220	c.133G>C	c.(133-135)Gac>Cac	p.D45H	MBIP_ENST00000359527.7_Missense_Mutation_p.D45H|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.D45H	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	45					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCTCTGAGGTCAAGCTTCAAA	0.413																																																	0													79	70	73					14																	36786015		2203	4300	6503	SO:0001583	missense	51562			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.133G>C	14.37:g.36786015C>G	ENSP00000399718:p.Asp45His		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	NULL	p.D45H	ENST00000416007.4	37	c.133	CCDS9658.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.00|16.00	2.997871|2.997871	0.54147|0.54147	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000556427|ENST00000553977	T;T;T|.	0.42513|.	0.97;0.97;0.97|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.183361|.	0.64402|.	D|.	0.000015|.	T|.	0.21347|.	0.0514|.	N|N	0.08118|0.08118	0|0	0.19945|0.19945	N|N	0.999945|0.999945	B;P;B|.	0.37636|.	0.374;0.603;0.374|.	B;B;B|.	0.35470|.	0.132;0.203;0.132|.	T|.	0.20874|.	-1.0262|.	10|.	0.59425|.	D|.	0.04|.	-8.476|-8.476	11.5154|11.5154	0.50518|0.50518	0.0:0.0705:0.0:0.9295|0.0:0.0705:0.0:0.9295	.|.	45;45;45|.	Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;MBIP1_HUMAN|.	H|S	45;45;45;45;3|41	ENSP00000399718:D45H;ENSP00000324444:D45H;ENSP00000352517:D45H|.	ENSP00000324444:D45H|.	D|X	-|-	1|2	0|2	MBIP|MBIP	35855766|35855766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	4.154000|4.154000	0.58125|0.58125	0.975000|0.975000	0.38392|0.38392	-0.352000|-0.352000	0.07741|0.07741	GAC|TGA	MBIP	-	NULL		0.413	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	C	NM_016586		36786015	-1	no_errors	ENST00000416007	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36786015	C	G	36786015	3	3	34	1	0	0	0	0	1	0	0	0	9372	826	29	1	933	1	MBIP	14	36786015	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	913569	36786015	70563525	292	4759										
CLEC14A	161198	genome.wustl.edu	37	chr14	38723950	38723950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggctgggaagaggggctttcGtgaaagcagagcttgacaag	17	6	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:38723950G>A	ENST00000342213.2	-	1	1624	c.1278C>T	c.(1276-1278)caC>caT	p.H426H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	426						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGGGGCTTTCGTGAAAGCAGA	0.557																																																	0													44	45	45					14																	38723950		2203	4300	6503	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1278C>T	14.37:g.38723950G>A			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.H426	ENST00000342213.2	37	c.1278	CCDS9667.1	14																																																																																			CLEC14A	-	NULL		0.557	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38723950	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38723950	G	A	38723950	2	1	34	1	0	0	0	0	0	0	0	1	3504	1136	40	2		2	CLEC14A	14	38723950	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1937935	38723950	68625590	293	4760										
KLHL28	54813	genome.wustl.edu	37	chr14	45403317	45403317	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tttaattattaagttaaataCctgttcatgtgggcaggacc	8	6	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:45403317C>A	ENST00000396128.4	-	3	1463		c.e3+1		KLHL28_ENST00000355081.2_Splice_Site	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28											breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGTTAAATACCTGTTCATGT	0.353																																																	0													48	46	47					14																	45403317		2203	4300	6503	SO:0001630	splice_region_variant	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1343+1G>T	14.37:g.45403317C>A			Q0VAL5	Splice_Site	SNP	-	e2+1	ENST00000396128.4	37	c.1343+1	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250676	0.80135	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1559	0.93510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL28	44473067	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.173000	0.77612	2.612000	0.88384	0.557000	0.71058	.	KLHL28	-	-		0.353	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	C		Intron	45403317	-1	no_errors	ENST00000396128	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	45403317	C	A	45403317	5	1	34	1	0	0	0	0	0	0	1	0	8402	521	18	4	383	4	KLHL28	14	45403317	Splice_Site	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6679367	45403317	61946223	294	4761										
SYNE2	23224	genome.wustl.edu	37	chr14	64556365	64556365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatcaaaactatcctattatCaaaagaaatatttgattttt	2	5	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:64556365C>T	ENST00000344113.4	+	59	11956	c.11744C>T	c.(11743-11745)tCa>tTa	p.S3915L	SYNE2_ENST00000555002.1_Missense_Mutation_p.S549L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3948L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3915L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S300L|SYNE2_ENST00000357395.3_Missense_Mutation_p.S300L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3915					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCCTATTATCAAAAGAAATA	0.284																																																	0													33	35	34					14																	64556365		2195	4265	6460	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11744C>T	14.37:g.64556365C>T	ENSP00000341781:p.Ser3915Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3915L	ENST00000344113.4	37	c.11744	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405279	0.62288	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.79247	-0.8;2.56;-0.79;-1.25;2.53;2.56	5.36	5.36	0.76844	.	0.000000	0.44483	D	0.000459	D	0.87924	0.6300	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.983;1.0	D;D;D;D	0.87578	0.996;0.994;0.933;0.998	D	0.88947	0.3384	10	0.87932	D	0	.	18.6796	0.91541	0.0:1.0:0.0:0.0	.	300;3949;3915;3915	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	L	3915;300;3915;3948;3948;549;300	ENSP00000350719:S3915L;ENSP00000349969:S300L;ENSP00000341781:S3915L;ENSP00000452570:S3948L;ENSP00000450831:S549L;ENSP00000378249:S300L	ENSP00000261678:S3948L	S	+	2	0	SYNE2	63626118	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	5.579000	0.67457	2.520000	0.84964	0.460000	0.39030	TCA	SYNE2	-	NULL		0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64556365	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.998	T	T	64556365	C	T	64556365	3	4	34	1	0	0	0	0	1	0	0	0	15476	838	29	1	11974	1	SYNE2	14	64556365	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	19153048	64556365	42793175	295	4762										
SYNE2	23224	genome.wustl.edu	37	chr14	64599082	64599082	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acagagagacattttgggcaGaacaagtaacagaagttaaa	10	5	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:64599082G>C	ENST00000344113.4	+	77	14652	c.14440G>C	c.(14440-14442)Gaa>Caa	p.E4814Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1199Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4814					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTTGGGCAGAACAAGTAAC	0.383																																																	0													85	89	88					14																	64599082		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14440G>C	14.37:g.64599082G>C	ENSP00000341781:p.Glu4814Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4814Q	ENST00000344113.4	37	c.14440	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278459	0.40294	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59906	0.46;3.76;0.46;0.23;3.81;3.76	5.42	5.42	0.78866	.	0.118800	0.37348	N	0.002127	T	0.71779	0.3380	M	0.68952	2.095	0.80722	D	1	D;D;D	0.64830	0.973;0.984;0.994	P;P;P	0.60117	0.848;0.737;0.869	T	0.73795	-0.3870	10	0.62326	D	0.03	.	16.7248	0.85418	0.0:0.0:1.0:0.0	.	1199;4814;4814	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4814;1199;4814;4731;4731;1448;1199	ENSP00000350719:E4814Q;ENSP00000349969:E1199Q;ENSP00000341781:E4814Q;ENSP00000452570:E4731Q;ENSP00000450831:E1448Q;ENSP00000378249:E1199Q	ENSP00000261678:E4731Q	E	+	1	0	SYNE2	63668835	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.663000	0.68038	2.683000	0.91414	0.655000	0.94253	GAA	SYNE2	-	NULL		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64599082	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64599082	G	C	64599082	3	2	34	1	0	0	0	0	1	0	0	0	15476	943	33	1	14742	1	SYNE2	14	64599082	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	42717	64599082	42750458	296	4763										
PLEKHH1	57475	genome.wustl.edu	37	chr14	68029086	68029086	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agttccagcacggtccattcTggggaaacagtagaggccaa	12	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:68029086T>G	ENST00000329153.5	+	7	870	c.738T>G	c.(736-738)tcT>tcG	p.S246S		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	246						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGGTCCATTCTGGGGAAACAG	0.552																																																	0													67	79	75					14																	68029086		1916	4141	6057	SO:0001819	synonymous_variant	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.738T>G	14.37:g.68029086T>G			A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S246	ENST00000329153.5	37	c.738	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL		0.552	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	T	XM_031054		68029086	1	no_errors	ENST00000329153	ensembl	human	known	70_37	silent	SNP	0.001	G	G	68029086	T	G	68029086	2	3	34	1	0	0	0	0	0	0	0	1	12100	1567	55	5		5	PLEKHH1	14	68029086	Silent	SNP	T	TCGA-C5-A2LZ-01A-11D-A20U-09	3430004	68029086	39320454	297	4764										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68251080	68251080	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggaacttgtctctcaaacagGagatgtgacaccagttggga	12	8	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:68251080G>A	ENST00000347230.4	-	20	3735	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	ZFYVE26_ENST00000555452.1_Silent_p.L1199L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1199					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTCAAACAGGAGATGTGACA	0.488																																																	0													220	201	207					14																	68251080		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3597C>T	14.37:g.68251080G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L1199	ENST00000347230.4	37	c.3597	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68251080	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.998	A	A	68251080	G	A	68251080	2	1	34	1	0	0	0	0	0	0	0	1	17698	1161	41	1		1	ZFYVE26	14	68251080	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	221994	68251080	39098460	298	4765										
LTBP2	4053	genome.wustl.edu	37	chr14	75078169	75078169	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctcaccccgtgagccgccctCgcggcggggttgggggcgca	17	16	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:75078169C>G	ENST00000261978.4	-	1	865	c.479G>C	c.(478-480)cGa>cCa	p.R160P	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.R160P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	160					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GAGCCGCCCTCGCGGCGGGGT	0.731																																																	0													22	31	28					14																	75078169		1634	3328	4962	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.479G>C	14.37:g.75078169C>G	ENSP00000261978:p.Arg160Pro		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R160P	ENST00000261978.4	37	c.479	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700236	0.68501	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.80566	-1.39;-1.38	3.09	3.09	0.35607	.	0.000000	0.29225	N	0.012778	T	0.79598	0.4473	M	0.67700	2.07	0.32422	N	0.549191	P	0.52842	0.956	P	0.46543	0.52	D	0.84531	0.0633	10	0.72032	D	0.01	.	9.8091	0.40812	0.0:1.0:0.0:0.0	.	160	Q14767	LTBP2_HUMAN	P	160	ENSP00000261978:R160P;ENSP00000451477:R160P	ENSP00000261978:R160P	R	-	2	0	LTBP2	74147922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.715000	0.25822	1.739000	0.51704	0.462000	0.41574	CGA	LTBP2	-	NULL		0.731	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	C	NM_000428		75078169	-1	no_errors	ENST00000261978	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75078169	C	G	75078169	3	3	34	1	0	0	0	0	1	0	0	0	9097	884	31	1	5130	1	LTBP2	14	75078169	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6827089	75078169	32271371	299	4766										
GPR65	8477	genome.wustl.edu	37	chr14	88477990	88477990	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	accacagcaattctgggaagCgaacttacacaatgtataga	8	9	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:88477990C>T	ENST00000267549.3	+	2	1357	c.799C>T	c.(799-801)Cga>Tga	p.R267*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	267					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTCTGGGAAGCGAACTTACAC	0.383																																																	0													109	100	103					14																	88477990		2203	4300	6503	SO:0001587	stop_gained	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.799C>T	14.37:g.88477990C>T	ENSP00000267549:p.Arg267*		O75819	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.R267*	ENST00000267549.3	37	c.799	CCDS9879.1	14	.	.	.	.	.	.	.	.	.	.	C	38	7.136119	0.98088	.	.	ENSG00000140030	ENST00000267549	.	.	.	5.98	5.09	0.68999	.	1.059260	0.07408	N	0.891842	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.2413	0.26098	0.1284:0.6814:0.1239:0.0663	.	.	.	.	X	267	.	ENSP00000267549:R267X	R	+	1	2	GPR65	87547743	0.000000	0.05858	0.415000	0.26534	0.510000	0.34073	0.247000	0.18179	1.515000	0.48885	-0.188000	0.12872	CGA	GPR65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt		0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR65	HGNC	protein_coding	OTTHUMT00000071564.4	C			88477990	1	no_errors	ENST00000267549	ensembl	human	known	70_37	nonsense	SNP	0.387	T	T	88477990	C	T	88477990	4	4	34	1	0	0	0	0	0	1	0	0	6725	760	27	2	801	2	GPR65	14	88477990	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	13399821	88477990	18871550	300	4767										
ZC3H14	79882	genome.wustl.edu	37	chr14	89075708	89075708	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaccagattgtcccttcactCatgtgagtagaagaattcca	7	10	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:89075708C>T	ENST00000251038.5	+	14	2191	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	ZC3H14_ENST00000555755.1_Missense_Mutation_p.H651Y|ZC3H14_ENST00000359301.3_Missense_Mutation_p.H491Y|ZC3H14_ENST00000393514.5_Missense_Mutation_p.H631Y|ZC3H14_ENST00000406216.3_Missense_Mutation_p.H202Y|ZC3H14_ENST00000302216.8_Missense_Mutation_p.H500Y|ZC3H14_ENST00000557607.1_Missense_Mutation_p.H345Y|ZC3H14_ENST00000555900.1_Missense_Mutation_p.H358Y|ZC3H14_ENST00000318308.6_Missense_Mutation_p.H227Y|ZC3H14_ENST00000556945.1_Missense_Mutation_p.H525Y|ZC3H14_ENST00000336693.4_Missense_Mutation_p.H491Y	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	656						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCCCTTCACTCATGTGAGTAG	0.368																																																	0													128	114	119					14																	89075708		2203	4300	6503	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1966C>T	14.37:g.89075708C>T	ENSP00000251038:p.His656Tyr		A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.H656Y	ENST00000251038.5	37	c.1966	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141120	0.77775	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000318308;ENST00000555900;ENST00000406216;ENST00000555792	.	.	.	5.78	5.78	0.91487	.	0.049092	0.85682	D	0.000000	D	0.89378	0.6698	H	0.94886	3.595	0.58432	D	0.999997	D;D;D;D;D;P;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.808;1.0;0.999	D;D;D;D;D;P;D;D	0.91635	0.997;0.999;0.993;0.999;0.999;0.46;0.999;0.999	D	0.91553	0.5258	9	0.87932	D	0	-16.0351	20.0203	0.97492	0.0:1.0:0.0:0.0	.	525;506;651;656;202;227;500;656	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-8;Q6PJT7-6;Q6PJT7-3;Q6PJT7	.;.;.;.;.;.;.;ZC3HE_HUMAN	Y	656;631;593;491;500;506;525;345;651;631;491;227;358;202;60	.	ENSP00000251038:H656Y	H	+	1	0	ZC3H14	88145461	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	7.453000	0.80700	2.730000	0.93505	0.655000	0.94253	CAT	ZC3H14	-	NULL		0.368	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	C	NM_024824		89075708	1	no_errors	ENST00000251038	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89075708	C	T	89075708	3	4	34	1	0	0	0	0	1	0	0	0	17596	826	29	1	2409	1	ZC3H14	14	89075708	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	597718	89075708	18273832	301	4768										
CLMN	79789	genome.wustl.edu	37	chr14	95669981	95669981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agaagcaaaatctattaggtCgctgttaaattttgaggctt	9	5	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:95669981C>T	ENST00000298912.4	-	9	1818	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	569					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTATTAGGTCGCTGTTAAAT	0.428																																																	0													81	81	81					14																	95669981		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1705G>A	14.37:g.95669981C>T	ENSP00000298912:p.Asp569Asn		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D569N	ENST00000298912.4	37	c.1705	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160316	0.38119	.	.	ENSG00000165959	ENST00000298912	D	0.93659	-3.26	5.76	0.592	0.17471	.	0.000000	0.43919	D	0.000501	D	0.87993	0.6318	M	0.64997	1.995	0.09310	N	0.999998	B	0.31274	0.317	B	0.18561	0.022	T	0.79359	-0.1836	10	0.49607	T	0.09	.	5.575	0.17218	0.0:0.5801:0.1386:0.2813	.	569	Q96JQ2	CLMN_HUMAN	N	569	ENSP00000298912:D569N	ENSP00000298912:D569N	D	-	1	0	CLMN	94739734	0.789000	0.28775	0.263000	0.24496	0.046000	0.14306	0.565000	0.23578	0.356000	0.24157	0.655000	0.94253	GAC	CLMN	-	NULL		0.428	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	C			95669981	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	missense	SNP	0.012	T	T	95669981	C	T	95669981	3	4	34	1	0	0	0	0	1	0	0	0	3547	884	31	1	1323	1	CLMN	14	95669981	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6594273	95669981	11679559	302	4769										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102473425	102473425	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttgttttagttttcaactgtGatgaaacctttgatttccag	7	6	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:102473425G>A	ENST00000360184.4	+	28	5961	c.5797G>A	c.(5797-5799)Gat>Aat	p.D1933N		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1933	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTCAACTGTGATGAAACCTT	0.438																																																	0													152	129	137					14																	102473425		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5797G>A	14.37:g.102473425G>A	ENSP00000348965:p.Asp1933Asn		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.D1933N	ENST00000360184.4	37	c.5797	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.748562	0.96882	.	.	ENSG00000197102	ENST00000360184	T	0.38887	1.11	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);	0.051549	0.85682	D	0.000000	T	0.70996	0.3288	M	0.88704	2.975	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.71803	-0.4482	10	0.39692	T	0.17	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	1933	Q14204	DYHC1_HUMAN	N	1933	ENSP00000348965:D1933N	ENSP00000348965:D1933N	D	+	1	0	DYNC1H1	101543178	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	9.799000	0.99117	2.731000	0.93534	0.650000	0.86243	GAT	DYNC1H1	-	smart_AAA+_ATPase		0.438	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102473425	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102473425	G	A	102473425	3	1	34	1	0	0	0	0	1	0	0	0	4851	1290	45	1	5907	1	DYNC1H1	14	102473425	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6803444	102473425	4876115	303	4770										
KIF26A	26153	genome.wustl.edu	37	chr14	104641721	104641721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaggtccaggtggcaccgacGgagctcaggccagccccgcc	15	16	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:104641721G>A	ENST00000423312.2	+	12	2596	c.2596G>A	c.(2596-2598)Gga>Aga	p.G866R	KIF26A_ENST00000315264.7_Missense_Mutation_p.G727R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	866					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCACCGACGGAGCTCAGGC	0.716																																																	0													11	15	14					14																	104641721		1980	4126	6106	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2596G>A	14.37:g.104641721G>A	ENSP00000388241:p.Gly866Arg		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G866R	ENST00000423312.2	37	c.2596	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	G	6.438	0.449014	0.12223	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77358	-1.09;-1.09	3.61	-0.96	0.10340	.	.	.	.	.	T	0.58935	0.2157	L	0.40543	1.245	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.35871	-0.9771	9	0.13853	T	0.58	.	0.5044	0.00585	0.2249:0.2815:0.2667:0.2269	.	866	Q9ULI4	KI26A_HUMAN	R	866;727	ENSP00000388241:G866R;ENSP00000325452:G727R	ENSP00000325452:G727R	G	+	1	0	KIF26A	103711474	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.821000	0.27338	0.155000	0.19261	0.462000	0.41574	GGA	KIF26A	-	NULL		0.716	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	G			104641721	1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	0.000	A	A	104641721	G	A	104641721	3	1	34	1	0	0	0	0	1	0	0	0	8314	1117	39	2	2642	2	KIF26A	14	104641721	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2168296	104641721	2707819	304	4771										
SPTBN5	51332	genome.wustl.edu	37	chr15	42147812	42147812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agccgctcgatgcgtgggctGaacgcttccaggtctctctt	12	13	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:42147812G>A	ENST00000320955.6	-	54	9380	c.9153C>T	c.(9151-9153)ttC>ttT	p.F3051F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3051					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCGTGGGCTGAACGCTTCCA	0.642																																																	0													19	23	22					15																	42147812		2033	4187	6220	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9153C>T	15.37:g.42147812G>A				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.F3051	ENST00000320955.6	37	c.9153		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42147812	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.007	A	A	42147812	G	A	42147812	2	1	34	1	0	0	0	0	0	0	0	1	15152	1281	45	1		1	SPTBN5	15	42147812	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		42147812	60383580	305	4772										
EPB42	2038	genome.wustl.edu	37	chr15	43498771	43498771	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acggatgccgttgtctttctCacgttccattttctctttct	6	12	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:43498771C>T	ENST00000441366.2	-	10	1600	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	EPB42_ENST00000300215.3_Missense_Mutation_p.E489K|EPB42_ENST00000540029.1_Missense_Mutation_p.E381K|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	459					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTGTCTTTCTCACGTTCCATT	0.537																																																	0													168	156	160					15																	43498771		2203	4299	6502	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1375G>A	15.37:g.43498771C>T	ENSP00000396616:p.Glu459Lys		Q4KKX0|Q4VB97	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E489K	ENST00000441366.2	37	c.1465	CCDS45249.1	15	.	.	.	.	.	.	.	.	.	.	C	0.108	-1.142576	0.01728	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.79033	-1.19;-1.23;-1.2	5.31	-2.77	0.05877	.	1.391060	0.04001	N	0.296510	T	0.51719	0.1691	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.42865	-0.9426	10	0.08381	T	0.77	-0.3329	3.8364	0.08896	0.2604:0.3517:0.0:0.388	.	381;459;489;459	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	K	489;381;459;387	ENSP00000300215:E489K;ENSP00000444699:E381K;ENSP00000396616:E459K	ENSP00000300215:E489K	E	-	1	0	EPB42	41286063	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.761000	0.04751	-0.328000	0.08539	0.655000	0.94253	GAG	EPB42	-	NULL		0.537	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB42	HGNC	protein_coding	OTTHUMT00000432219.1	C	NM_000119		43498771	-1	no_errors	ENST00000300215	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43498771	C	T	43498771	3	4	34	1	0	0	0	0	1	0	0	0	5170	835	29	1	716	1	EPB42	15	43498771	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1350959	43498771	59032621	306	4773										
SPG11	80208	genome.wustl.edu	37	chr15	44944412	44944412	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atctacgcccttaggtccttGaataggaagatcttctagta	8	9	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:44944412G>A	ENST00000261866.7	-	5	938	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q308*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q308*|SPG11_ENST00000559193.1_Nonsense_Mutation_p.Q308*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q308*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	308					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTAGGTCCTTGAATAGGAAGA	0.378																																																	0													117	105	110					15																	44944412		2198	4298	6496	SO:0001587	stop_gained	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.922C>T	15.37:g.44944412G>A	ENSP00000261866:p.Gln308*		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	NULL	p.Q308*	ENST00000261866.7	37	c.922	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350759	0.82132	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	4.87	0.123	0.14709	.	0.575264	0.16146	N	0.227466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8587	0.41101	0.0:0.6655:0.2165:0.118	.	.	.	.	X	308	.	ENSP00000261866:Q308X	Q	-	1	0	SPG11	42731704	0.999000	0.42202	1.000000	0.80357	0.739000	0.42172	0.799000	0.27028	0.450000	0.26774	0.313000	0.20887	CAA	SPG11	-	NULL		0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44944412	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	44944412	G	A	44944412	4	1	34	1	0	0	0	0	0	1	0	0	15071	1299	45	1	6553	1	SPG11	15	44944412	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1445641	44944412	57586980	307	4774										
NARG2	79664	genome.wustl.edu	37	chr15	60741397	60741397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aacccacaacagctgtctttCcatcactattatttttacat	2	12	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:60741397C>T	ENST00000261520.4	-	10	2003	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	NARG2_ENST00000439632.1_Missense_Mutation_p.G453E	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTGTCTTTCCATCACTATT	0.403																																																	0													97	98	97					15																	60741397		2203	4300	6503	SO:0001583	missense	79664																														ENST00000261520.4:c.1769G>A	15.37:g.60741397C>T	ENSP00000261520:p.Gly590Glu			Missense_Mutation	SNP	pfam_NARG2_C	p.G590E	ENST00000261520.4	37	c.1769	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	C	6.696	0.497138	0.12762	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.73	0.514	0.17007	.	0.901228	0.09846	N	0.748233	T	0.20618	0.0496	L	0.27053	0.805	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.002	T	0.27365	-1.0076	9	0.42905	T	0.14	-2.3922	0.919	0.01311	0.2334:0.3845:0.1627:0.2195	.	258;590	B3KXT2;Q659A1	.;NARG2_HUMAN	E	590;453	.	ENSP00000261520:G590E	G	-	2	0	NARG2	58528689	0.000000	0.05858	0.006000	0.13384	0.112000	0.19704	-0.072000	0.11486	-0.141000	0.11374	0.650000	0.86243	GGA	NARG2	-	NULL		0.403	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	HGNC	protein_coding	OTTHUMT00000256136.1	C			60741397	-1	no_errors	ENST00000261520	ensembl	human	known	70_37	missense	SNP	0.001	T	T	60741397	C	T	60741397	3	4	34	1	0	0	0	0	1	0	0	0	10192	855	30	1	1207	1	NARG2	15	60741397	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	15796985	60741397	41789995	308	4775										
VPS13C	54832	genome.wustl.edu	37	chr15	62173101	62173101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagtgcaataatagctcctaGaaacccttgatcaattttta	5	9	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:62173101G>A	ENST00000261517.5	-	72	9902	c.9829C>T	c.(9829-9831)Cta>Tta	p.L3277L	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Silent_p.L3234L|VPS13C_ENST00000395898.3_Silent_p.L3234L|VPS13C_ENST00000395896.4_Silent_p.L3277L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAGCTCCTAGAAACCCTTGA	0.313																																																	0													57	61	60					15																	62173101		2202	4300	6502	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9829C>T	15.37:g.62173101G>A				Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L3277	ENST00000261517.5	37	c.9829	CCDS32257.1	15																																																																																			VPS13C	-	NULL		0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62173101	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	silent	SNP	0.997	A	A	62173101	G	A	62173101	2	1	34	1	0	0	0	0	0	0	0	1	17222	933	33	1		1	VPS13C	15	62173101	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1431704	62173101	40358291	309	4776										
SCAPER	49855	genome.wustl.edu	37	chr15	77021070	77021070	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cgctctgcctctagagctctCttgcgttcctaatgttagaa	8	12	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:77021070C>G	ENST00000563290.1	-	17	2126	c.2031G>C	c.(2029-2031)aaG>aaC	p.K677N	SCAPER_ENST00000324767.7_Missense_Mutation_p.K677N|SCAPER_ENST00000538941.2_Missense_Mutation_p.K431N			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	677	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTAGAGCTCTCTTGCGTTCCT	0.358																																																	0													57	57	57					15																	77021070		1819	4070	5889	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2031G>C	15.37:g.77021070C>G	ENSP00000454973:p.Lys677Asn		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.K677N	ENST00000563290.1	37	c.2031	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253499	0.59212	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.27720	1.67;1.65	5.12	1.77	0.24775	.	0.043130	0.85682	D	0.000000	T	0.35364	0.0929	N	0.24115	0.695	0.46654	D	0.999146	D;D	0.76494	0.997;0.999	D;D	0.69824	0.962;0.966	T	0.08086	-1.0739	10	0.56958	D	0.05	.	9.318	0.37946	0.0:0.5256:0.0:0.4744	.	698;431	Q9BY12-2;F5H7X8	.;.	N	677;431;699	ENSP00000326924:K677N;ENSP00000442190:K431N	ENSP00000303560:K699N	K	-	3	2	SCAPER	74808125	0.998000	0.40836	0.997000	0.53966	0.990000	0.78478	0.499000	0.22546	0.485000	0.27652	0.563000	0.77884	AAG	SCAPER	-	NULL		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		77021070	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	0.992	G	G	77021070	C	G	77021070	3	3	34	1	0	0	0	0	1	0	0	0	13908	912	32	1	2235	1	SCAPER	15	77021070	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	14847969	77021070	25510322	310	4777										
ACAN	176	genome.wustl.edu	37	chr15	89386861	89386861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccgacccctcatcccgctacGacgccatctgctacacaggt	7	19	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:89386861G>A	ENST00000561243.1	+	5	1033	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	ACAN_ENST00000558207.1_Missense_Mutation_p.D345N|ACAN_ENST00000352105.7_Missense_Mutation_p.D345N|ACAN_ENST00000439576.2_Missense_Mutation_p.D345N|ACAN_ENST00000559004.1_Missense_Mutation_p.D345N			P16112	PGCA_HUMAN	aggrecan	345	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCCCGCTACGACGCCATCTG	0.632																																																	0													50	53	52					15																	89386861		2018	4168	6186	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1033G>A	15.37:g.89386861G>A	ENSP00000453342:p.Asp345Asn		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.D345N	ENST00000561243.1	37	c.1033	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330888	0.81690	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.15603	2.41;2.41	5.56	5.56	0.83823	.	0.000000	0.34507	N	0.003916	T	0.48768	0.1518	M	0.86097	2.795	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.965	T	0.50742	-0.8792	10	0.52906	T	0.07	-29.1238	18.5257	0.90971	0.0:0.0:1.0:0.0	.	345;345;345	E7ENV9;E7EX88;Q6PID9	.;.;.	N	345	ENSP00000387356:D345N;ENSP00000341615:D345N	ENSP00000268134:D345N	D	+	1	0	ACAN	87187865	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.653000	0.98506	2.626000	0.88956	0.650000	0.86243	GAC	ACAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89386861	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89386861	G	A	89386861	3	1	34	1	0	0	0	0	1	0	0	0	117	1058	37	1	1051	1	ACAN	15	89386861	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	12365791	89386861	13144531	311	4778										
MSLNL	401827	genome.wustl.edu	37	chr16	828733	828733	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctggctggccggctggcacCagaagccttgcagcagggag	17	12	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:828733C>T	ENST00000442466.1	-	3	187	c.188G>A	c.(187-189)tGg>tAg	p.W63*	MSLNL_ENST00000293892.3_Nonsense_Mutation_p.W330*			Q96KJ4	MSLNL_HUMAN	mesothelin-like	63					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGCTGGCACCAGAAGCCTTG	0.692																																																	0													7	9	8					16																	828733		1958	4122	6080	SO:0001587	stop_gained	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.188G>A	16.37:g.828733C>T	ENSP00000415767:p.Trp63*			Nonsense_Mutation	SNP	pfam_Mesothelin	p.W330*	ENST00000442466.1	37	c.989		16	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242751	0.79912	.	.	ENSG00000162006	ENST00000442466;ENST00000293892	.	.	.	4.05	3.09	0.35607	.	0.722514	0.12545	N	0.459554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0996	6.9936	0.24769	0.0:0.8768:0.0:0.1232	.	.	.	.	X	63;330	.	ENSP00000293892:W330X	W	-	2	0	MSLNL	768734	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	1.380000	0.34351	2.282000	0.76494	0.549000	0.68633	TGG	MSLNL	-	NULL		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		C	NM_001025190		828733	-1	no_errors	ENST00000293892	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	828733	C	T	828733	4	4	34	1	0	0	0	0	0	1	0	0	9905	595	21	4	2224	4	MSLNL	16	828733	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		828733	89526020	312	4779										
CACNA1H	8912	genome.wustl.edu	37	chr16	1251944	1251944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cccagtgctgtgcaaggccaGggtcccgggcaccgccagcg	15	16	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:1251944G>A	ENST00000348261.5	+	9	1742	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	CACNA1H_ENST00000358590.4_Silent_p.Q498Q|CACNA1H_ENST00000565831.1_Silent_p.Q498Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	498					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGCAAGGCCAGGGTCCCGGGC	0.667																																																	0													4	5	5					16																	1251944		1835	3699	5534	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1494G>A	16.37:g.1251944G>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.Q498	ENST00000348261.5	37	c.1494	CCDS45375.1	16																																																																																			CACNA1H	-	NULL		0.667	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1251944	1	no_errors	ENST00000348261	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1251944	G	A	1251944	2	1	34	1	0	0	0	0	0	0	0	1	2550	991	35	4		4	CACNA1H	16	1251944	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	423211	1251944	89102809	313	4780										
UNKL	64718	genome.wustl.edu	37	chr16	1453237	1453237	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcacagtgcagcccattcttCacgcagtggccacgtgcgtc	11	15	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:1453237C>T	ENST00000389221.4	-	3	395	c.396G>A	c.(394-396)gtG>gtA	p.V132V	UNKL_ENST00000397462.1_Silent_p.V219V|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Silent_p.V132V|UNKL_ENST00000508903.2_Silent_p.V132V	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	132					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCCCATTCTTCACGCAGTGGC	0.637																																																	0													235	153	181					16																	1453237		2198	4300	6498	SO:0001819	synonymous_variant	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.396G>A	16.37:g.1453237C>T			B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.V219	ENST00000389221.4	37	c.657	CCDS53981.1	16																																																																																			UNKL	-	NULL		0.637	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		C	NM_001037125		1453237	-1	no_errors	ENST00000397462	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1453237	C	T	1453237	2	4	34	1	0	0	0	0	0	0	0	1	17032	813	29	1		1	UNKL	16	1453237	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	201293	1453237	88901516	314	4781										
PKD1	5310	genome.wustl.edu	37	chr16	2169358	2169358	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agcccaacgtccagcgcccgGagcaggttgtgggagacgtc	15	13	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:2169358G>C	ENST00000262304.4	-	2	445	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.L79L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	79					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGCGCCCGGAGCAGGTTGT	0.677																																																	0													1	1	1					16																	2169358		544	1105	1649	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.237C>G	16.37:g.2169358G>C			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L79	ENST00000262304.4	37	c.237	CCDS32369.1	16																																																																																			PKD1	-	smart_Leu-rich_rpt_typical-subtyp		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2169358	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.965	C	C	2169358	G	C	2169358	2	2	34	1	0	0	0	0	0	0	0	1	11987	1161	41	1		1	PKD1	16	2169358	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	716121	2169358	88185395	315	4782										
OR1F1	4992	genome.wustl.edu	37	chr16	3254273	3254273	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggacaaaccagtcgagtgtCtccgagttcctcctcctggg	12	13	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:3254273C>G	ENST00000304646.2	+	1	27	c.27C>G	c.(25-27)gtC>gtG	p.V9V	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	9					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGTCGAGTGTCTCCGAGTTCC	0.552																																																	0													42	42	42					16																	3254273		2197	4300	6497	SO:0001819	synonymous_variant	4992			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.27C>G	16.37:g.3254273C>G			O15246|Q6IFL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V9	ENST00000304646.2	37	c.27	CCDS10496.1	16																																																																																			OR1F1	-	NULL		0.552	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	HGNC	protein_coding	OTTHUMT00000206985.1	C			3254273	1	no_errors	ENST00000304646	ensembl	human	known	70_37	silent	SNP	0.241	G	G	3254273	C	G	3254273	2	3	34	1	0	0	0	0	0	0	0	1	10980	900	32	1		1	OR1F1	16	3254273	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1084915	3254273	87100480	316	4783										
CREBBP	1387	genome.wustl.edu	37	chr16	3778628	3778628	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcctgcatggcattcaggttCtgcaggctgggctgctggtg	16	10	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:3778628C>T	ENST00000262367.5	-	31	7229	c.6420G>A	c.(6418-6420)caG>caA	p.Q2140Q	CREBBP_ENST00000382070.3_Silent_p.Q2102Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2140					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATTCAGGTTCTGCAGGCTGG	0.682			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													57	62	60					16																	3778628		2197	4298	6495	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6420G>A	16.37:g.3778628C>T			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q2140	ENST00000262367.5	37	c.6420	CCDS10509.1	16																																																																																			CREBBP	-	NULL		0.682	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3778628	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3778628	C	T	3778628	2	4	34	1	0	0	0	0	0	0	0	1	3866	912	32	1		1	CREBBP	16	3778628	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	524355	3778628	86576125	317	4784										
PPL	5493	genome.wustl.edu	37	chr16	4987026	4987026	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgtatttgcctttgtttctCttcctgaagagcgagttcat	8	9	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:4987026C>G	ENST00000345988.2	-	1	110	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PPL_ENST00000590782.2_Missense_Mutation_p.K7N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	7					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTTGTTTCTCTTCCTGAAGA	0.716																																																	0													57	51	53					16																	4987026		2196	4300	6496	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.21G>C	16.37:g.4987026C>G	ENSP00000340510:p.Lys7Asn		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K7N	ENST00000345988.2	37	c.21	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954811	0.73902	.	.	ENSG00000118898	ENST00000345988	T	0.68765	-0.35	3.14	3.14	0.36123	.	0.615614	0.14352	U	0.325026	T	0.73202	0.3557	L	0.48642	1.525	0.35431	D	0.794093	D	0.71674	0.998	D	0.73708	0.981	T	0.75425	-0.3322	10	0.38643	T	0.18	.	9.9707	0.41752	0.0:1.0:0.0:0.0	.	7	O60437	PEPL_HUMAN	N	7	ENSP00000340510:K7N	ENSP00000340510:K7N	K	-	3	2	PPL	4927027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.152000	0.31663	1.782000	0.52362	0.449000	0.29647	AAG	PPL	-	NULL		0.716	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4987026	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4987026	C	G	4987026	3	3	34	1	0	0	0	0	1	0	0	0	12361	912	32	1	5337	1	PPL	16	4987026	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1208398	4987026	85367727	318	4785										
C16orf89	146556	genome.wustl.edu	37	chr16	5115922	5115922	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctggccatggccggcctctgCtcactgctggtcacacgctc	11	17	3	0	rs370754766		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:5115922C>T	ENST00000315997.5	-	0	189				C16orf89_ENST00000472572.3_5'UTR|C16orf89_ENST00000350219.4_Silent_p.E34E|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_5'UTR|C16orf89_ENST00000422873.1_Silent_p.E34E	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCGGCCTCTGCTCACTGCTGG	0.667																																																	0								C	,	1,4125		0,1,2062	20	25	23		,	1.7	0	16		23	0,8416		0,0,4208	no	utr-5,utr-5	C16orf89	NM_001098514.2,NM_152459.4	,	0,1,6270	TT,TC,CC		0.0,0.0242,0.0080	,	,	5115922	1,12541	2063	4208	6271	SO:0001623	5_prime_UTR_variant	146556				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.-13G>A	16.37:g.5115922C>T			B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	NULL	p.E34	ENST00000315997.5	37	c.102	CCDS42116.2	16																																																																																			C16orf89	-	NULL		0.667	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	C	NM_152459		5115922	-1	no_errors	ENST00000350219	ensembl	human	known	70_37	silent	SNP	0.000	T	T	5115922	C	T	5115922	1	4	34	0	1	0	0	0	0	0	0	0	1846	796	28	4		4	C16orf89	16	5115922	5'UTR	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	128896	5115922	85238831	319	4786										
DNAH3	55567	genome.wustl.edu	37	chr16	21110003	21110003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agcttttcaacattgtgcttCatttcttctgtagtcatcac	5	10	6	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:21110003C>G	ENST00000261383.3	-	17	2453	c.2454G>C	c.(2452-2454)atG>atC	p.M818I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M818I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	818	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTGTGCTTCATTTCTTCTG	0.413																																																	0													168	155	159					16																	21110003		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2454G>C	16.37:g.21110003C>G	ENSP00000261383:p.Met818Ile		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.M818I	ENST00000261383.3	37	c.2454	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252397	0.22880	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.21031	2.03;2.18	5.71	4.76	0.60689	.	0.110544	0.64402	D	0.000010	T	0.14743	0.0356	L	0.37561	1.115	0.39044	D	0.960191	B	0.10296	0.003	B	0.08055	0.003	T	0.04413	-1.0953	10	0.05436	T	0.98	.	13.795	0.63166	0.0:0.9259:0.0:0.0741	.	818	Q8TD57	DYH3_HUMAN	I	818	ENSP00000261383:M818I;ENSP00000394245:M818I	ENSP00000261383:M818I	M	-	3	0	DNAH3	21017504	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.233000	0.43027	2.699000	0.92147	0.655000	0.94253	ATG	DNAH3	-	NULL		0.413	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		21110003	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21110003	C	G	21110003	3	3	34	1	0	0	0	0	1	0	0	0	4613	826	29	1	10079	1	DNAH3	16	21110003	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	15994081	21110003	69244750	320	4787										
SCNN1G	6340	genome.wustl.edu	37	chr16	23224213	23224213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatggccatctgtggtttcgGaggtaagttcttctgcccac	11	10	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:23224213G>A	ENST00000300061.2	+	10	1572	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	477					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.E477Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTGGTTTCGGAGGTAAGTTC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											73	66	68					16																	23224213		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1429G>A	16.37:g.23224213G>A	ENSP00000300061:p.Glu477Lys		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E477K	ENST00000300061.2	37	c.1429	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798213	0.70567	.	.	ENSG00000166828	ENST00000300061	T	0.63096	-0.02	4.88	4.88	0.63580	.	0.144833	0.48286	N	0.000193	T	0.69486	0.3116	L	0.46670	1.46	0.45515	D	0.998471	D	0.58970	0.984	P	0.58873	0.847	T	0.70813	-0.4770	10	0.49607	T	0.09	-26.8374	14.758	0.69583	0.0:0.0:1.0:0.0	.	477	P51170	SCNNG_HUMAN	K	477	ENSP00000300061:E477K	ENSP00000300061:E477K	E	+	1	0	SCNN1G	23131714	1.000000	0.71417	0.925000	0.36789	0.516000	0.34256	5.220000	0.65267	2.243000	0.73865	0.561000	0.74099	GAG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	G	NM_001039		23224213	1	no_errors	ENST00000300061	ensembl	human	known	70_37	missense	SNP	0.972	A	A	23224213	G	A	23224213	3	1	34	1	0	0	0	0	1	0	0	0	13960	1175	41	1	1463	1	SCNN1G	16	23224213	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2114210	23224213	67130540	321	4788										
GTF3C1	2975	genome.wustl.edu	37	chr16	27561120	27561120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcagcgggaagggcggcactCgcgtctccagccggctccac	15	16	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:27561120C>T	ENST00000356183.4	-	1	107	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	KIAA0556_ENST00000261588.4_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.R31Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	31					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGCGGCACTCGCGTCTCCAG	0.657																																																	0													21	25	24					16																	27561120		2195	4300	6495	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.92G>A	16.37:g.27561120C>T	ENSP00000348510:p.Arg31Gln		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R31Q	ENST00000356183.4	37	c.92	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.527265	0.96431	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	4.68	4.68	0.58851	.	0.157048	0.41605	D	0.000859	T	0.59169	0.2174	M	0.81497	2.545	0.36901	D	0.890426	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.71293	-0.4636	10	0.72032	D	0.01	-4.1322	17.2075	0.86922	0.0:1.0:0.0:0.0	.	31;31	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	31	ENSP00000348510:R31Q	ENSP00000348510:R31Q	R	-	2	0	GTF3C1	27468621	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.941000	0.63540	2.128000	0.65567	0.555000	0.69702	CGA	GTF3C1	-	NULL		0.657	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27561120	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.997	T	T	27561120	C	T	27561120	3	4	34	1	0	0	0	0	1	0	0	0	6892	884	31	1	6385	1	GTF3C1	16	27561120	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4336907	27561120	62793633	322	4789										
ZNF48	197407	genome.wustl.edu	37	chr16	30409039	30409039	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggggatagctctgcccggatCaaacaccagcggactcatag	12	12	3	0	rs144670554		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:30409039C>T	ENST00000320159.2	+	2	844	c.468C>T	c.(466-468)atC>atT	p.I156I	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTGCCCGGATCAAACACCAGC	0.602																																																	0													51	61	58					16																	30409039		2197	4300	6497	SO:0001819	synonymous_variant	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.468C>T	16.37:g.30409039C>T			Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I156	ENST00000320159.2	37	c.468	CCDS10679.1	16																																																																																			ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409039	1	no_errors	ENST00000320159	ensembl	human	known	70_37	silent	SNP	0.991	T	T	30409039	C	T	30409039	2	4	34	1	0	0	0	0	0	0	0	1	17964	816	29	1		1	ZNF48	16	30409039	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2847919	30409039	59945714	323	4790										
SRCAP	10847	genome.wustl.edu	37	chr16	30749064	30749064	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agagtccctggagctggcttCtgtggccagttcagaaacct	12	11	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:30749064C>T	ENST00000262518.4	+	34	8088	c.7703C>T	c.(7702-7704)tCt>tTt	p.S2568F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2506F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2410F|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2568	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCTGGCTTCTGTGGCCAGT	0.552																																																	0													65	67	67					16																	30749064		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7703C>T	16.37:g.30749064C>T	ENSP00000262518:p.Ser2568Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S2568F	ENST00000262518.4	37	c.7703	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000099	0.02128	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.75;-2.76;-2.76	4.8	0.125	0.14718	.	0.854646	0.09860	N	0.746320	T	0.76723	0.4027	N	0.08118	0	0.09310	N	0.999999	B;B	0.22683	0.073;0.012	B;B	0.24155	0.051;0.016	T	0.65961	-0.6041	10	0.52906	T	0.07	-0.9926	1.4204	0.02311	0.172:0.4209:0.2184:0.1887	.	2506;2568	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	F	2568;2506;2410	ENSP00000262518:S2568F;ENSP00000378499:S2506F;ENSP00000343042:S2410F	ENSP00000262518:S2568F	S	+	2	0	SRCAP	30656565	0.288000	0.24324	0.382000	0.26119	0.071000	0.16799	0.385000	0.20685	0.483000	0.27608	-0.499000	0.04595	TCT	SRCAP	-	NULL		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30749064	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.079	T	T	30749064	C	T	30749064	3	4	34	1	0	0	0	0	1	0	0	0	15165	913	32	1	7829	1	SRCAP	16	30749064	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	340025	30749064	59605689	324	4791										
TRIM72	260434	genome.wustl.edu	37	chr16	31230472	31230472	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcatgcatgcgcaaggagaaGagtgtggctgtgctggagca	17	7	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:31230472G>A	ENST00000302964.3	-	0	0				PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Silent_p.K149K	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCAAGGAGAAGAGTGTGGCTG	0.627																																																	0													50	41	44					16																	31230472		2196	4300	6496	SO:0001631	upstream_gene_variant	493829				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230472G>A	Exception_encountered		B2R8L4|Q8NFP8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K149	ENST00000302964.3	37	c.447	CCDS10710.1	16																																																																																			TRIM72	-	NULL		0.627	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000255543.2	G	NM_152901		31230472	1	no_errors	ENST00000322122	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31230472	G	A	31230472	1	1	34	0	1	0	0	0	0	0	0	0	16576	933	33	1		1	TRIM72	16	31230472	5'Flank	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	481408	31230472	59124281	325	4792										
LONP2	83752	genome.wustl.edu	37	chr16	48368183	48368183	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aatctatcagtgacactactGacttggctctaccacctgaa	6	12	3	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:48368183G>A	ENST00000285737.4	+	12	1945	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	LONP2_ENST00000535754.1_Missense_Mutation_p.D574N	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGACACTACTGACTTGGCTCT	0.378																																																	0													147	138	141					16																	48368183		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1852G>A	16.37:g.48368183G>A	ENSP00000285737:p.Asp618Asn			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.D618N	ENST00000285737.4	37	c.1852	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075683	0.36662	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.30182	1.54;1.54	5.79	5.79	0.91817	.	0.363985	0.33327	N	0.005037	T	0.25082	0.0609	L	0.29908	0.895	0.49582	D	0.999801	P;P	0.34462	0.454;0.454	B;B	0.24394	0.053;0.037	T	0.03051	-1.1078	10	0.51188	T	0.08	-19.2289	20.04	0.97581	0.0:0.0:1.0:0.0	.	574;618	B7ZKL7;Q86WA8	.;LONP2_HUMAN	N	618;347;574;574	ENSP00000285737:D618N;ENSP00000445426:D574N	ENSP00000285737:D618N	D	+	1	0	LONP2	46925684	1.000000	0.71417	0.867000	0.34043	0.114000	0.19823	7.573000	0.82421	2.733000	0.93635	0.655000	0.94253	GAC	LONP2	-	tigrfam_Pept_S16_lon		0.378	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	G	NM_031490		48368183	1	no_errors	ENST00000285737	ensembl	human	known	70_37	missense	SNP	0.996	A	A	48368183	G	A	48368183	3	1	34	1	0	0	0	0	1	0	0	0	8916	1290	45	1	1898	1	LONP2	16	48368183	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	17137711	48368183	41986570	326	4793										
AMFR	267	genome.wustl.edu	37	chr16	56396850	56396850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgctgcttctgaagcctccGttccgcggcggcagccagca	12	16	1	1	rs145747194		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:56396850G>A	ENST00000290649.5	-	14	2113	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	635	VCP/p97-interacting motif (VIM).				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGAAGCCTCCGTTCCGCGGCG	0.642																																					Pancreas(2;144 323 39528)												0								G	TRP/ARG	0,4396		0,0,2198	45	36	39		1903	4.8	0.9	16	dbSNP_134	39	1,8599		0,1,4299	no	missense	AMFR	NM_001144.4	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	635/644	56396850	1,12995	2198	4300	6498	SO:0001583	missense	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1903C>T	16.37:g.56396850G>A	ENSP00000290649:p.Arg635Trp		P26442|Q8IZ70	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.R635W	ENST00000290649.5	37	c.1903	CCDS10758.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269474	0.80469	0.0	1.16E-4	ENSG00000159461	ENST00000290649	T	0.23754	1.89	5.8	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.37820	-0.9689	10	0.87932	D	0	-26.4017	13.954	0.64135	0.0:0.0:0.7235:0.2765	.	635;284	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	W	635	ENSP00000290649:R635W	ENSP00000290649:R635W	R	-	1	2	AMFR	54954351	0.994000	0.37717	0.891000	0.34965	0.974000	0.67602	2.231000	0.43009	1.445000	0.47624	0.563000	0.77884	CGG	AMFR	-	NULL		0.642	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2	G			56396850	-1	no_errors	ENST00000290649	ensembl	human	known	70_37	missense	SNP	0.977	A	A	56396850	G	A	56396850	3	1	34	1	0	0	0	0	1	0	0	0	571	1144	40	2	32	2	AMFR	16	56396850	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	8028667	56396850	33957903	327	4794										
GFOD2	81577	genome.wustl.edu	37	chr16	67719417	67719417	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggggatgctgatgcacaccaGatccacatcttgatgcagca	11	11	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:67719417G>C	ENST00000268797.7	-	2	547	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	68					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		ATGCACACCAGATCCACATCT	0.587																																																	0													97	77	83					16																	67719417		2198	4300	6498	SO:0001583	missense	81577			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.202C>G	16.37:g.67719417G>C	ENSP00000268797:p.Leu68Val		Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.L68V	ENST00000268797.7	37	c.202	CCDS10845.1	16	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074584	0.76415	.	.	ENSG00000141098	ENST00000268797	T	0.20881	2.04	5.58	4.63	0.57726	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.27765	0.0683	L	0.37750	1.13	0.58432	D	0.999994	P	0.50617	0.937	P	0.61722	0.893	T	0.05550	-1.0878	10	0.11794	T	0.64	-15.7008	9.9468	0.41613	0.1549:0.0:0.8451:0.0	.	68	Q3B7J2	GFOD2_HUMAN	V	68	ENSP00000268797:L68V	ENSP00000268797:L68V	L	-	1	2	GFOD2	66276918	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.070000	0.57548	1.353000	0.45828	0.561000	0.74099	CTG	GFOD2	-	pfam_Oxidoreductase_N		0.587	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD2	HGNC	protein_coding	OTTHUMT00000268868.2	G	NM_030819		67719417	-1	no_errors	ENST00000268797	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67719417	G	C	67719417	3	2	34	1	0	0	0	0	1	0	0	0	6363	933	33	1	963	1	GFOD2	16	67719417	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	11322567	67719417	22635336	328	4795										
SNTB2	6645	genome.wustl.edu	37	chr16	69318092	69318092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gatctgtcatcctggaccagGatacttgttcagggttgcca	11	10	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:69318092G>A	ENST00000336278.4	+	5	1328	c.1290G>A	c.(1288-1290)agG>agA	p.R430R		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	430	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CCTGGACCAGGATACTTGTTC	0.463																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													119	109	112					16																	69318092		2198	4300	6498	SO:0001819	synonymous_variant	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1290G>A	16.37:g.69318092G>A			Q9BY09	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R430	ENST00000336278.4	37	c.1290	CCDS10873.1	16																																																																																			SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.463	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	G			69318092	1	no_errors	ENST00000336278	ensembl	human	known	70_37	silent	SNP	0.993	A	A	69318092	G	A	69318092	2	1	34	1	0	0	0	0	0	0	0	1	14903	1165	41	1		1	SNTB2	16	69318092	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1598675	69318092	21036661	329	4796										
ZNF19	7567	genome.wustl.edu	37	chr16	71512831	71512831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aacatcacacttctgtacagGgccctctgggcaggagaaag	11	11	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:71512831G>A	ENST00000288177.5	-	4	366	c.111C>T	c.(109-111)gcC>gcT	p.A37A	AC010547.9_ENST00000561908.1_Silent_p.A37A|ZNF19_ENST00000564230.1_Silent_p.A37A|ZNF19_ENST00000565100.2_Intron|ZNF19_ENST00000565637.1_5'UTR|ZNF19_ENST00000567225.1_Silent_p.A37A	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TTCTGTACAGGGCCCTCTGGG	0.498																																																	0													139	140	139					16																	71512831		2198	4300	6498	SO:0001819	synonymous_variant	7567			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.111C>T	16.37:g.71512831G>A			A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A37	ENST00000288177.5	37	c.111	CCDS10901.1	16																																																																																			ZNF19	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF19	HGNC	protein_coding	OTTHUMT00000268993.2	G	NM_006961		71512831	-1	no_errors	ENST00000288177	ensembl	human	known	70_37	silent	SNP	1.000	A	A	71512831	G	A	71512831	2	1	34	1	0	0	0	0	0	0	0	1	17785	1219	43	4		4	ZNF19	16	71512831	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2194739	71512831	18841922	330	4797										
PMFBP1	83449	genome.wustl.edu	37	chr16	72166674	72166674	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cctctcctgctgcttggcctCttcgagactgttcttcagct	8	15	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:72166674C>T	ENST00000237353.10	-	10	1681	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E329K|PMFBP1_ENST00000537465.1_Missense_Mutation_p.E474K	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	474						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGCTTGGCCTCTTCGAGACTG	0.587																																																	0													113	97	102					16																	72166674		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1420G>A	16.37:g.72166674C>T	ENSP00000237353:p.Glu474Lys		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.E474K	ENST00000237353.10	37	c.1420	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953554	0.92660	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19669	2.13;2.18;2.16	5.48	5.48	0.80851	.	0.771170	0.11421	N	0.565816	T	0.26159	0.0638	L	0.29908	0.895	0.25716	N	0.985423	P;P;P	0.44139	0.827;0.827;0.827	P;P;P	0.46758	0.526;0.526;0.526	T	0.17471	-1.0368	10	0.66056	D	0.02	-5.2027	16.278	0.82656	0.0:1.0:0.0:0.0	.	474;474;474	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	K	474;474;329	ENSP00000443817:E474K;ENSP00000237353:E474K;ENSP00000347854:E329K	ENSP00000237353:E474K	E	-	1	0	PMFBP1	70724175	0.504000	0.26123	0.582000	0.28627	0.401000	0.30781	2.309000	0.43699	2.564000	0.86499	0.561000	0.74099	GAG	PMFBP1	-	NULL		0.587	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	C	NM_031293		72166674	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	missense	SNP	0.396	T	T	72166674	C	T	72166674	3	4	34	1	0	0	0	0	1	0	0	0	12158	922	32	1	1711	1	PMFBP1	16	72166674	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	653843	72166674	18188079	331	4798										
VPS53	55275	genome.wustl.edu	37	chr17	455118	455118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcccaagaccttaccttgctCatggcagtcagggcaggatc	10	13	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:455118C>T	ENST00000571805.1	-	17	1996	c.1860G>A	c.(1858-1860)atG>atA	p.M620I	VPS53_ENST00000437048.2_Missense_Mutation_p.M620I|VPS53_ENST00000576149.1_5'UTR|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000401468.3_Missense_Mutation_p.M343I|VPS53_ENST00000446250.2_Missense_Mutation_p.M422I|VPS53_ENST00000291074.5_Missense_Mutation_p.M591I|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	620					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTACCTTGCTCATGGCAGTCA	0.522																																																	0													74	57	63					17																	455118		2203	4300	6503	SO:0001583	missense	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1860G>A	17.37:g.455118C>T	ENSP00000459312:p.Met620Ile		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.M620I	ENST00000571805.1	37	c.1860		17	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955276	0.92726	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468	T;T;T;T	0.57273	1.12;1.04;1.06;0.41	5.62	5.62	0.85841	.	0.072630	0.85682	D	0.000000	T	0.62853	0.2462	L	0.58969	1.84	0.80722	D	1	P;P;P;P;P	0.50710	0.846;0.775;0.938;0.751;0.692	P;P;P;P;B	0.51806	0.68;0.58;0.664;0.463;0.421	T	0.61554	-0.7039	10	0.46703	T	0.11	-30.2773	18.9992	0.92826	0.0:1.0:0.0:0.0	.	343;620;422;620;591	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	I	620;422;591;343	ENSP00000401435:M620I;ENSP00000394386:M422I;ENSP00000291074:M591I;ENSP00000384294:M343I	ENSP00000291074:M591I	M	-	3	0	VPS53	401868	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.795000	0.96236	0.655000	0.94253	ATG	VPS53	-	NULL		0.522	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	C	NM_018289		455118	-1	no_errors	ENST00000437048	ensembl	human	known	70_37	missense	SNP	1.000	T	T	455118	C	T	455118	3	4	34	1	0	0	0	0	1	0	0	0	17246	826	29	1	677	1	VPS53	17	455118	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		455118	80740092	332	4799										
GLOD4	51031	genome.wustl.edu	37	chr17	685469	685469	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cggtttcccactttgaatacGaagtgcagagctctgcgagc	11	11	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:685469G>A	ENST00000301328.5	-	1	50	c.27C>T	c.(25-27)ttC>ttT	p.F9F	GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301329.6_Silent_p.F9F|RNMTL1_ENST00000304478.4_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	9						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTTTGAATACGAAGTGCAGAG	0.672																																																	0													29	32	31					17																	685469		2203	4299	6502	SO:0001819	synonymous_variant	51031			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.27C>T	17.37:g.685469G>A			D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	NULL	p.F9	ENST00000301328.5	37	c.27		17																																																																																			GLOD4	-	NULL		0.672	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1	G	NM_016080		685469	-1	no_errors	ENST00000301328	ensembl	human	known	70_37	silent	SNP	1.000	A	A	685469	G	A	685469	2	1	34	1	0	0	0	0	0	0	0	1	6469	1049	37	1		1	GLOD4	17	685469	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	230351	685469	80509741	333	4800										
SPNS2	124976	genome.wustl.edu	37	chr17	4434019	4434019	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	actatcattggcgacctcttCaccaagaacacgcgtacgct	7	14	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:4434019C>T	ENST00000329078.3	+	4	876	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	222					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCGACCTCTTCACCAAGAACA	0.627																																																	0													67	60	62					17																	4434019		1568	3582	5150	SO:0001819	synonymous_variant	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.666C>T	17.37:g.4434019C>T			B9A1T3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F222	ENST00000329078.3	37	c.666	CCDS42237.1	17																																																																																			SPNS2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.627	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4434019	1	no_errors	ENST00000329078	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4434019	C	T	4434019	2	4	34	1	0	0	0	0	0	0	0	1	15105	825	29	1		1	SPNS2	17	4434019	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	3748550	4434019	76761191	334	4801										
NLRP1	22861	genome.wustl.edu	37	chr17	5418837	5418837	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tagttgcaggcatgagatctCctggaggaaaacagagatga	13	6	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:5418837C>A	ENST00000572272.1	-	16	4057	c.4058G>T	c.(4057-4059)gGa>gTa	p.G1353V	NLRP1_ENST00000354411.3_Splice_Site_p.G1323V|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Splice_Site_p.G1279V|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Splice_Site_p.G1309V|NLRP1_ENST00000345221.3_Splice_Site_p.G1309V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1353					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CATGAGATCTCCTGGAGGAAA	0.493																																																	0													62	68	66					17																	5418837		2010	4172	6182	SO:0001630	splice_region_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4058-1G>T	17.37:g.5418837C>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.G1353V	ENST00000572272.1	37	c.4058	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991210	0.54041	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.17054	2.3;2.3	4.17	4.17	0.49024	.	0.000000	0.38217	N	0.001763	T	0.33789	0.0875	L	0.52266	1.64	0.46458	D	0.999057	D;B;D;D	0.76494	0.998;0.408;0.999;0.998	D;B;D;D	0.77004	0.955;0.174;0.989;0.981	T	0.02581	-1.1138	10	0.87932	D	0	.	12.3596	0.55194	0.0:1.0:0.0:0.0	.	1279;1323;1353;1309	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	V	1353;1323;1309	ENSP00000346390:G1323V;ENSP00000324366:G1309V	ENSP00000269280:G1353V	G	-	2	0	NLRP1	5359561	0.998000	0.40836	1.000000	0.80357	0.706000	0.40770	1.547000	0.36190	2.631000	0.89168	0.650000	0.86243	GGA	NLRP1	-	NULL		0.493	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004	Missense_Mutation	5418837	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5418837	C	A	5418837	5	1	34	1	0	0	0	0	0	0	1	0	10495	869	30	3	434	3	NLRP1	17	5418837	Splice_Site	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	984818	5418837	75776373	335	4802										
CLEC10A	10462	genome.wustl.edu	37	chr17	6980275	6980275	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aagttgctaaaatctgttctCagggtcaccaggtccctctg	9	11	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:6980275C>T	ENST00000254868.4	-	4	544	c.216G>A	c.(214-216)ctG>ctA	p.L72L	CLEC10A_ENST00000416562.2_Silent_p.L72L|CLEC10A_ENST00000576617.1_Silent_p.L72L|CLEC10A_ENST00000571664.1_Silent_p.L72L	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	72					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AATCTGTTCTCAGGGTCACCA	0.557																																																	0													102	100	100					17																	6980275		2203	4300	6503	SO:0001819	synonymous_variant	10462			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"C-type lectin domain containing", "CD molecules"	16916	protein-coding gene	gene with protein product	"macrophage lectin 2 (calcium dependent)"	605999	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.216G>A	17.37:g.6980275C>T			A8K8J8|Q14538|Q6PIW3	Silent	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L72	ENST00000254868.4	37	c.216	CCDS11087.1	17																																																																																			CLEC10A	-	pfam_Lectin_N		0.557	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	CLEC10A	HGNC	protein_coding	OTTHUMT00000439837.2	C	NM_006344		6980275	-1	no_errors	ENST00000254868	ensembl	human	known	70_37	silent	SNP	0.381	T	T	6980275	C	T	6980275	2	4	34	1	0	0	0	0	0	0	0	1	3500	813	29	1		1	CLEC10A	17	6980275	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1561438	6980275	74214935	336	4803										
MYH2	4620	genome.wustl.edu	37	chr17	10428323	10428323	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttcctatcaacctcagacttGacttggttcaactcaagctg	6	12	4	2	rs561798452		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:10428323G>A	ENST00000245503.5	-	34	5106	c.4722C>T	c.(4720-4722)gtC>gtT	p.V1574V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1574V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1574					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCAGACTTGACTTGGTTCA	0.448													g|||	1	0.000199681	0	0.0014	5008	,	,		21773	0		0	False		,,,				2504	0																0													108	109	108					17																	10428323		2203	4297	6500	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4722C>T	17.37:g.10428323G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1574	ENST00000245503.5	37	c.4722	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail		0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10428323	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10428323	G	A	10428323	2	1	34	1	0	0	0	0	0	0	0	1	10058	1277	45	1		1	MYH2	17	10428323	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3448048	10428323	70766887	337	4804										
ZNF18	7566	genome.wustl.edu	37	chr17	11881615	11881615	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttttttgcagatggtgcactGaaagtatgtctctccggtgt	11	7	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:11881615G>A	ENST00000322748.3	-	9	1913	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Q437*|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Q436*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	437					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ATGGTGCACTGAAAGTATGTC	0.478																																																	0													65	72	70					17																	11881615		2203	4300	6503	SO:0001587	stop_gained	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1309C>T	17.37:g.11881615G>A	ENSP00000315664:p.Gln437*		Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q437*	ENST00000322748.3	37	c.1309	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.449349	0.97577	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.84	4.81	0.61882	.	0.127017	0.36234	N	0.002718	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.729	6.8556	0.24038	0.0858:0.0:0.739:0.1752	.	.	.	.	X	437	.	ENSP00000315664:Q437X	Q	-	1	0	ZNF18	11822340	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-1.213000	0.02991	2.763000	0.94921	0.557000	0.71058	CAG	ZNF18	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	G	XM_085596		11881615	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	nonsense	SNP	0.598	A	A	11881615	G	A	11881615	4	1	34	1	0	0	0	0	0	1	0	0	17777	1299	45	1	344	1	ZNF18	17	11881615	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1453292	11881615	69313595	338	4805										
ZNF18	7566	genome.wustl.edu	37	chr17	11881897	11881897	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gttttgcagagcctcagggaGattctctccttctccaaagc	9	12	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:11881897G>C	ENST00000322748.3	-	9	1631	c.1027C>G	c.(1027-1029)Ctc>Gtc	p.L343V	ZNF18_ENST00000580306.2_Missense_Mutation_p.L343V|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.L342V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	343					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GCCTCAGGGAGATTCTCTCCT	0.498																																																	0													137	147	144					17																	11881897		2203	4300	6503	SO:0001583	missense	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1027C>G	17.37:g.11881897G>C	ENSP00000315664:p.Leu343Val		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L343V	ENST00000322748.3	37	c.1027	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111150	0.37242	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.06218	3.33	5.39	3.3	0.37823	.	0.965893	0.08506	N	0.935606	T	0.04272	0.0118	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.005	T	0.46062	-0.9218	10	0.13108	T	0.6	-0.1328	10.1842	0.42986	0.0:0.1539:0.6968:0.1493	.	342;343	P17022-2;P17022	.;ZNF18_HUMAN	V	343	ENSP00000315664:L343V	ENSP00000315664:L343V	L	-	1	0	ZNF18	11822622	0.002000	0.14202	0.001000	0.08648	0.924000	0.55760	1.039000	0.30266	0.680000	0.31366	0.557000	0.71058	CTC	ZNF18	-	NULL		0.498	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	G	XM_085596		11881897	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	missense	SNP	0.000	C	C	11881897	G	C	11881897	3	2	34	1	0	0	0	0	1	0	0	0	17777	942	33	1	626	1	ZNF18	17	11881897	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	282	11881897	69313313	339	4806										
MYO15A	51168	genome.wustl.edu	37	chr17	18060373	18060373	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgcagcccctagagccacctCgagtgggtcagtgccactgg	13	14	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:18060373C>T	ENST00000205890.5	+	49	9045	c.8707C>T	c.(8707-8709)Cga>Tga	p.R2903*	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Nonsense_Mutation_p.R167*	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2903	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAGCCACCTCGAGTGGGTCA	0.652																																																	0													41	41	41					17																	18060373		1962	4157	6119	SO:0001587	stop_gained	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8707C>T	17.37:g.18060373C>T	ENSP00000205890:p.Arg2903*		B4DFC7	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R2903*	ENST00000205890.5	37	c.8707	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.726795	0.98931	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	.	.	.	5.04	-1.71	0.08133	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7161	0.08438	0.509:0.189:0.2194:0.0826	.	.	.	.	X	2903;102	.	ENSP00000205890:R2903X	R	+	1	2	MYO15A	18001098	.	.	0.028000	0.17463	0.686000	0.39977	.	.	0.119000	0.18210	0.555000	0.69702	CGA	MYO15A	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18060373	1	no_errors	ENST00000205890	ensembl	human	known	70_37	nonsense	SNP	0.048	T	T	18060373	C	T	18060373	4	4	34	1	0	0	0	0	0	1	0	0	10086	876	31	1	8893	1	MYO15A	17	18060373	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6178476	18060373	63134837	340	4807										
NOS2	4843	genome.wustl.edu	37	chr17	26089878	26089878	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtggatctctgtgggcgtgtGatcccgggaggagctgatgg	19	7	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:26089878G>A	ENST00000313735.6	-	22	2979	c.2746C>T	c.(2746-2748)Cac>Tac	p.H916Y		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	916	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTGGGCGTGTGATCCCGGGAG	0.632																																																	0													24	20	22					17																	26089878		2190	4289	6479	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2746C>T	17.37:g.26089878G>A	ENSP00000327251:p.His916Tyr		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.H916Y	ENST00000313735.6	37	c.2746	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.175507	0.01646	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.65732	-0.17	4.9	3.79	0.43588	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	1.130250	0.06472	N	0.731346	T	0.46132	0.1377	L	0.34521	1.04	0.22511	N	0.999032	B	0.28470	0.213	B	0.27380	0.079	T	0.36553	-0.9743	10	0.05721	T	0.95	.	5.8271	0.18560	0.1064:0.0:0.5988:0.2949	.	916	P35228	NOS2_HUMAN	Y	916;877	ENSP00000327251:H916Y	ENSP00000327251:H916Y	H	-	1	0	NOS2	23114005	0.010000	0.17322	0.130000	0.21974	0.166000	0.22503	0.081000	0.14823	0.817000	0.34445	0.456000	0.33151	CAC	NOS2	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.632	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26089878	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	missense	SNP	0.195	A	A	26089878	G	A	26089878	3	1	34	1	0	0	0	0	1	0	0	0	10567	1290	45	1	739	1	NOS2	17	26089878	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	8029505	26089878	55105332	341	4808										
SSH2	85464	genome.wustl.edu	37	chr17	27958150	27958150	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acaatacactctgttgttgtGagttgttctacaaaagactt	7	7	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:27958150G>C	ENST00000269033.3	-	15	4132	c.3981C>G	c.(3979-3981)ctC>ctG	p.L1327L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.L1354L	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1327					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTTGTTGTGAGTTGTTCTA	0.527																																																	0													56	50	52					17																	27958150		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3981C>G	17.37:g.27958150G>C			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L1327	ENST00000269033.3	37	c.3981	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.527	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		27958150	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	1.000	C	C	27958150	G	C	27958150	2	2	34	1	0	0	0	0	0	0	0	1	15215	1277	45	1		1	SSH2	17	27958150	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1868272	27958150	53237060	342	4809										
SSH2	85464	genome.wustl.edu	37	chr17	28011590	28011590	+	Missense_Mutation	SNP	G	G	A													0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	taccaccatacctgtcattaGaggagaaatccattcctagg							TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:28011590G>A	ENST00000269033.3	-	5	540	c.389C>T	c.(388-390)tCt>tTt	p.S130F	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S157F|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	130					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTCATTAGAGGAGAAATC	0.368																																																	0													217	181	193					17																	28011590		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.389C>T	17.37:g.28011590G>A	ENSP00000269033:p.Ser130Phe		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S130F	ENST00000269033.3	37	c.389	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772465	0.69992	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.45668	0.89;0.89	5.23	5.23	0.72850	.	0.413619	0.27375	N	0.019660	T	0.58736	0.2143	L	0.53249	1.67	0.46542	D	0.999092	D;D;D;B;D	0.64830	0.993;0.987;0.987;0.254;0.994	D;P;P;B;P	0.69307	0.963;0.838;0.838;0.188;0.876	T	0.61133	-0.7124	10	0.87932	D	0	-9.7334	14.4286	0.67233	0.0:0.1472:0.8528:0.0	.	157;130;137;130;130	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	F	130;157;130;137	ENSP00000269033:S130F;ENSP00000444743:S157F	ENSP00000269033:S130F	S	-	2	0	SSH2	25035716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.668000	0.54554	2.431000	0.82371	0.557000	0.71058	TCT	SSH2	-	NULL		0.368	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		28011590	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28011590	G	A	28011590	3	1	34	1	0	0	0	0	1	0	0	0	15215	942	33	1	3926	1	SSH2	17	28011590	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	53440	28011590	53183620	343	4810	23	2								
SSH2	85464	genome.wustl.edu	37	chr17	28011595	28011595	+	Silent	SNP	G	G	A													0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccatacctgtcattagaggaGaaatccattcctaggacgat							TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:28011595G>A	ENST00000269033.3	-	5	535	c.384C>T	c.(382-384)ttC>ttT	p.F128F	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.F155F|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	128					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F128L(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATTAGAGGAGAAATCCATTC	0.368																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											220	183	195					17																	28011595		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.384C>T	17.37:g.28011595G>A			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.F128	ENST00000269033.3	37	c.384	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.368	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		28011595	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28011595	G	A	28011595	2	1	34	1	0	0	0	0	0	0	0	1	15215	933	33	1		1	SSH2	17	28011595	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5	28011595	53183615	344	4811	23	2								
CACNB1	782	genome.wustl.edu	37	chr17	37343127	37343127	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgacggggctgggaatgaagCcaacctcacagccctccttc	11	14	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:37343127C>G	ENST00000394303.3	-	5	677	c.470G>C	c.(469-471)gGc>gCc	p.G157A	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.G157A|CACNB1_ENST00000344140.5_Missense_Mutation_p.G157A	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	157	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAATGAAGCCAACCTCACA	0.582																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													70	65	66					17																	37343127		2203	4300	6503	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.470G>C	17.37:g.37343127C>G	ENSP00000377840:p.Gly157Ala		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.G157A	ENST00000394303.3	37	c.470	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647979	0.87958	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.97870	-4.58;-4.58;-4.58	5.06	5.06	0.68205	Src homology-3 domain (3);	0.053169	0.85682	D	0.000000	D	0.98695	0.9562	M	0.82716	2.605	0.80722	D	1	D;D;P;P;D	0.89917	0.999;1.0;0.65;0.886;0.983	D;D;B;B;P	0.87578	0.994;0.998;0.109;0.283;0.631	D	0.99449	1.0940	10	0.52906	T	0.07	-23.6935	17.1868	0.86868	0.0:1.0:0.0:0.0	.	110;157;157;157;157	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	A	107;157;157;157;110	ENSP00000377840:G157A;ENSP00000345461:G157A;ENSP00000377847:G157A	ENSP00000345461:G157A	G	-	2	0	CACNB1	34596653	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.986000	0.70563	2.362000	0.80069	0.313000	0.20887	GGC	CACNB1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.582	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	C			37343127	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37343127	C	G	37343127	3	3	34	1	0	0	0	0	1	0	0	0	2557	739	26	4	1630	4	CACNB1	17	37343127	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	9331532	37343127	43852083	345	4812										
CASC3	22794	genome.wustl.edu	37	chr17	38324110	38324110	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgatatcttacagtgcagttCcagggaccaatctataccca	7	11	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:38324110C>T	ENST00000264645.7	+	10	1885	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	553	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGTGCAGTTCCAGGGACCAA	0.502																																																	0													188	168	175					17																	38324110		2203	4300	6503	SO:0001819	synonymous_variant	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1659C>T	17.37:g.38324110C>T			A8K8R0	Silent	SNP	pfam_Btz_dom	p.F553	ENST00000264645.7	37	c.1659	CCDS11362.1	17																																																																																			CASC3	-	NULL		0.502	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	C	NM_007359		38324110	1	no_errors	ENST00000264645	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38324110	C	T	38324110	2	4	34	1	0	0	0	0	0	0	0	1	2666	854	30	1		1	CASC3	17	38324110	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	980983	38324110	42871100	346	4813										
KRT27	342574	genome.wustl.edu	37	chr17	38933324	38933324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccacagtgtgaactctggatGagagaactttgccacgagga	12	9	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:38933324G>A	ENST00000301656.3	-	8	1347	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AACTCTGGATGAGAGAACTTT	0.408																																																	0													119	121	120					17																	38933324		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1307C>T	17.37:g.38933324G>A	ENSP00000301656:p.Ser436Leu			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S436L	ENST00000301656.3	37	c.1307	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109197	0.77096	.	.	ENSG00000171446	ENST00000301656	D	0.85861	-2.04	5.66	4.67	0.58626	.	0.223016	0.32120	N	0.006554	D	0.90937	0.7151	M	0.90650	3.135	0.39796	D	0.972501	P	0.41643	0.758	P	0.49451	0.611	D	0.92980	0.6405	10	0.87932	D	0	.	13.8664	0.63592	0.0:0.0:0.846:0.154	.	436	Q7Z3Y8	K1C27_HUMAN	L	436	ENSP00000301656:S436L	ENSP00000301656:S436L	S	-	2	0	KRT27	36186850	0.765000	0.28485	0.378000	0.26068	0.967000	0.64934	2.101000	0.41787	1.476000	0.48215	0.650000	0.86243	TCA	KRT27	-	NULL		0.408	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	G	NM_181537		38933324	-1	no_errors	ENST00000301656	ensembl	human	known	70_37	missense	SNP	0.871	A	A	38933324	G	A	38933324	3	1	34	1	0	0	0	0	1	0	0	0	8484	1294	45	1	76	1	KRT27	17	38933324	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	609214	38933324	42261886	347	4814										
KRT40	125115	genome.wustl.edu	37	chr17	39137270	39137270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccaaccattcttcagcttctCtgcgattgttggcaagcacc	7	14	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:39137270C>G	ENST00000398486.2	-	6	981	c.821G>C	c.(820-822)aGa>aCa	p.R274T	KRT40_ENST00000377755.4_Missense_Mutation_p.R274T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	274	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTTCTCTGCGATTGTT	0.502																																																	0													198	198	198					17																	39137270		1996	4190	6186	SO:0001583	missense	125115			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.821G>C	17.37:g.39137270C>G	ENSP00000381500:p.Arg274Thr		Q6IFU5	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.R274T	ENST00000398486.2	37	c.821	CCDS42320.1	17	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527515	0.44969	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.88741	-2.42;-2.42	5.4	4.44	0.53790	Filament (1);	0.000000	0.36628	N	0.002484	D	0.92945	0.7755	M	0.75264	2.295	0.21147	N	0.999775	P	0.52316	0.952	D	0.72625	0.978	D	0.86034	0.1515	10	0.72032	D	0.01	.	8.9219	0.35617	0.0:0.7684:0.0:0.2316	.	274	Q6A162	K1C40_HUMAN	T	274	ENSP00000366984:R274T;ENSP00000381500:R274T	ENSP00000366984:R274T	R	-	2	0	KRT40	36390796	0.000000	0.05858	0.986000	0.45419	0.483000	0.33249	-0.333000	0.07894	1.414000	0.47017	0.655000	0.94253	AGA	KRT40	-	pfam_F		0.502	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT40	HGNC	protein_coding	OTTHUMT00000257701.3	C	NM_182497		39137270	-1	no_errors	ENST00000377755	ensembl	human	known	70_37	missense	SNP	0.438	G	G	39137270	C	G	39137270	3	3	34	1	0	0	0	0	1	0	0	0	8498	913	32	1	490	1	KRT40	17	39137270	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	203946	39137270	42057940	348	4815										
EZH1	2145	genome.wustl.edu	37	chr17	40879686	40879686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gggtgtccactcacaggcttCattgactgaacaggttggac	12	10	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:40879686C>T	ENST00000428826.2	-	4	334	c.213G>A	c.(211-213)atG>atA	p.M71I	EZH1_ENST00000585893.1_Missense_Mutation_p.M71I|EZH1_ENST00000415827.2_Missense_Mutation_p.M71I|EZH1_ENST00000435174.1_Missense_Mutation_p.E13K|EZH1_ENST00000592743.1_Missense_Mutation_p.M71I|EZH1_ENST00000590078.1_Start_Codon_SNP_p.M1I			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	71					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCACAGGCTTCATTGACTGAA	0.413																																																	0													95	97	96					17																	40879686		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.213G>A	17.37:g.40879686C>T	ENSP00000404658:p.Met71Ile		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.M71I	ENST00000428826.2	37	c.213	CCDS32659.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.152417|5.152417	0.94645|0.94645	.|.	.|.	ENSG00000108799|ENSG00000108799	ENST00000435174|ENST00000264646;ENST00000428826;ENST00000415827	D|D;D	0.93366|0.85955	-3.21|-1.92;-2.05	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.126509	.|0.64402	.|D	.|0.000001	T|T	0.81312|0.81312	0.4796|0.4796	L|L	0.43923|0.43923	1.385|1.385	0.34639|0.34639	D|D	0.720496|0.720496	P|B;B;B	0.46784|0.28605	0.884|0.004;0.217;0.138	B|B;B;B	0.39660|0.31946	0.306|0.022;0.138;0.065	T|T	0.81649|0.81649	-0.0837|-0.0837	9|10	0.49607|0.21014	T|T	0.09|0.42	.|.	17.5467|17.5467	0.87864|0.87864	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	13|71;77;71	Q92800-5|Q92800-3;Q92800-2;Q92800	.|.;.;EZH1_HUMAN	K|I	13|74;71;71	ENSP00000404071:E13K|ENSP00000404658:M71I;ENSP00000407869:M71I	ENSP00000404071:E13K|ENSP00000264646:M74I	E|M	-|-	1|3	0|0	EZH1|EZH1	38133212|38133212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	4.944000|4.944000	0.63561|0.63561	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GAA|ATG	EZH1	-	NULL		0.413	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40879686	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40879686	C	T	40879686	3	4	34	1	0	0	0	0	1	0	0	0	5345	826	29	1	2102	1	EZH1	17	40879686	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1742416	40879686	40315524	349	4816										
FMNL1	752	genome.wustl.edu	37	chr17	43319240	43319240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cacctgcagcagagccggctCccggagcagcgccaccgccg	13	19	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:43319240C>T	ENST00000331495.3	+	15	1948	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	FMNL1_ENST00000587489.1_Missense_Mutation_p.P116S|FMNL1_ENST00000328118.3_Missense_Mutation_p.P538S|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	538	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAGCCGGCTCCCGGAGCAGc	0.766																																					GBM(164;1247 1997 8702 11086 51972)												0													1	1	1					17																	43319240		1061	2214	3275	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1612C>T	17.37:g.43319240C>T	ENSP00000329219:p.Pro538Ser		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.P538S	ENST00000331495.3	37	c.1612	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879617	0.33162	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.81247	-1.46;-1.47	2.91	0.439	0.16567	.	1.672590	0.04363	U	0.357797	T	0.68091	0.2963	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48958	-0.8988	10	0.14252	T	0.57	.	6.4724	0.22015	0.1999:0.6034:0.1967:0.0	.	538	O95466	FMNL_HUMAN	S	538;538;256	ENSP00000327442:P538S;ENSP00000329219:P538S	ENSP00000327442:P538S	P	+	1	0	FMNL1	40675023	0.001000	0.12720	0.003000	0.11579	0.188000	0.23474	0.978000	0.29488	0.497000	0.27926	0.205000	0.17691	CCC	FMNL1	-	NULL		0.766	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43319240	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43319240	C	T	43319240	3	4	34	1	0	0	0	0	1	0	0	0	5969	855	30	1	1670	1	FMNL1	17	43319240	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2439554	43319240	37875970	350	4817										
CALCOCO2	10241	genome.wustl.edu	37	chr17	46928958	46928958	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agaagatgtcctcagaaaatGagaagatgggaatcagagtg	13	4	2	6			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:46928958G>T	ENST00000258947.3	+	7	771	c.670G>T	c.(670-672)Gag>Tag	p.E224*	CALCOCO2_ENST00000509507.1_Nonsense_Mutation_p.E245*|CALCOCO2_ENST00000416445.2_Nonsense_Mutation_p.E182*|CALCOCO2_ENST00000448105.2_Nonsense_Mutation_p.E248*|CALCOCO2_ENST00000508679.1_Nonsense_Mutation_p.E152*	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	224					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTCAGAAAATGAGAAGATGGG	0.428																																																	0													172	157	162					17																	46928958		2203	4300	6503	SO:0001587	stop_gained	10241			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.670G>T	17.37:g.46928958G>T	ENSP00000258947:p.Glu224*		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Nonsense_Mutation	SNP	pfam_CoCoA	p.E224*	ENST00000258947.3	37	c.670	CCDS11538.1	17	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362355	0.82353	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000513119;ENST00000416445;ENST00000508679	.	.	.	5.47	4.5	0.54988	.	0.213543	0.32935	N	0.005463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-16.8139	10.2589	0.43414	0.0892:0.0:0.9108:0.0	.	.	.	.	X	224;245;248;152;182;152	.	ENSP00000258947:E224X	E	+	1	0	CALCOCO2	44283957	1.000000	0.71417	0.997000	0.53966	0.514000	0.34195	2.204000	0.42761	1.549000	0.49425	-0.137000	0.14449	GAG	CALCOCO2	-	pfam_CoCoA		0.428	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1	G	NM_005831		46928958	1	no_errors	ENST00000258947	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	46928958	G	T	46928958	4	4	34	1	0	0	0	0	0	1	0	0	2583	1291	45	3	692	3	CALCOCO2	17	46928958	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3609718	46928958	34266252	351	4818										
ACSF2	80221	genome.wustl.edu	37	chr17	48541643	48541643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atcatcaacaagataaatatGaaggacctggtggtgagtgg	12	5	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:48541643G>C	ENST00000300441.4	+	10	1307	c.1203G>C	c.(1201-1203)atG>atC	p.M401I	ACSF2_ENST00000541920.1_Missense_Mutation_p.M241I|ACSF2_ENST00000427954.2_Missense_Mutation_p.M426I|ACSF2_ENST00000504392.1_Missense_Mutation_p.M358I|ACSF2_ENST00000502667.1_Missense_Mutation_p.M388I	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	401					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)			AGATAAATATGAAGGACCTGG	0.572																																																	0													114	106	109					17																	48541643		2203	4300	6503	SO:0001583	missense	80221			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.1203G>C	17.37:g.48541643G>C	ENSP00000300441:p.Met401Ile		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.M401I	ENST00000300441.4	37	c.1203	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380420	0.42207	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.34	3.37	0.38596	AMP-dependent synthetase/ligase (1);	0.304747	0.40554	N	0.001080	T	0.37892	0.1020	L	0.35593	1.075	0.43628	D	0.996011	B;B;B;B	0.25048	0.117;0.024;0.117;0.117	B;B;B;B	0.36378	0.145;0.145;0.145;0.223	T	0.37220	-0.9715	10	0.59425	D	0.04	-18.8605	12.6886	0.56962	0.0806:0.0:0.9194:0.0	.	388;426;358;401	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	I	401;241;358;426;388	ENSP00000300441:M401I;ENSP00000437987:M241I;ENSP00000425964:M358I;ENSP00000401831:M426I;ENSP00000421884:M388I	ENSP00000300441:M401I	M	+	3	0	ACSF2	45896642	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.097000	0.41748	1.184000	0.42957	0.561000	0.74099	ATG	ACSF2	-	pfam_AMP-dep_Synth/Lig		0.572	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	G	NM_025149		48541643	1	no_errors	ENST00000300441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48541643	G	C	48541643	3	2	34	1	0	0	0	0	1	0	0	0	175	1290	45	1	1241	1	ACSF2	17	48541643	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1612685	48541643	32653567	352	4819										
MKS1	54903	genome.wustl.edu	37	chr17	56290443	56290443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctcctgcttctccccctccGtctcaatcctgtaaggtcaa	6	17	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:56290443G>A	ENST00000393119.2	-	8	832	c.758C>T	c.(757-759)aCg>aTg	p.T253M	MKS1_ENST00000313863.6_Missense_Mutation_p.T253M|MKS1_ENST00000337050.7_Missense_Mutation_p.T253M|MKS1_ENST00000546108.1_Missense_Mutation_p.T50M|MKS1_ENST00000537529.2_Missense_Mutation_p.T243M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	253					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCCCCTCCGTCTCAATCCT	0.562																																																	0													66	68	67					17																	56290443		1926	4132	6058	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.758C>T	17.37:g.56290443G>A	ENSP00000376827:p.Thr253Met		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.T253M	ENST00000393119.2	37	c.758	CCDS11603.2	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.829|9.829	1.187823|1.187823	0.21954|0.21954	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	.|T;T;T;T	.|0.75154	.|-0.5;-0.5;-0.26;-0.91	5.8|5.8	1.05|1.05	0.20165|0.20165	.|.	.|0.888185	.|0.09157	.|U	.|0.840716	T|T	0.53222|0.53222	0.1783|0.1783	L|L	0.31926|0.31926	0.97|0.97	0.25369|0.25369	N|N	0.988719|0.988719	.|D;P	.|0.54964	.|0.969;0.892	.|B;B	.|0.32465	.|0.146;0.077	T|T	0.51663|0.51663	-0.8677|-0.8677	5|10	.|0.62326	.|D	.|0.03	-24.1711|-24.1711	3.5124|3.5124	0.07713|0.07713	0.4312:0.1959:0.3729:0.0|0.4312:0.1959:0.3729:0.0	.|.	.|253;253	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	W|M	254|243;253;253;253;50	.|ENSP00000442096:T243M;ENSP00000376827:T253M;ENSP00000338407:T253M;ENSP00000443012:T50M	.|ENSP00000338407:T253M	R|T	-|-	1|2	2|0	MKS1|MKS1	53645442|53645442	0.795000|0.795000	0.28851|0.28851	0.628000|0.628000	0.29241|0.29241	0.195000|0.195000	0.23768|0.23768	1.306000|1.306000	0.33505|0.33505	0.356000|0.356000	0.24157|0.24157	-0.135000|-0.135000	0.14842|0.14842	CGG|ACG	MKS1	-	NULL		0.562	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	G	NM_017777		56290443	-1	no_errors	ENST00000393119	ensembl	human	known	70_37	missense	SNP	0.487	A	A	56290443	G	A	56290443	3	1	34	1	0	0	0	0	1	0	0	0	9632	1145	40	2	965	2	MKS1	17	56290443	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	7748800	56290443	24904767	353	4820										
TANC2	26115	genome.wustl.edu	37	chr17	61492980	61492980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgaggacttgaaaactttccGggaactaaaggtgtctctcc	10	9	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:61492980G>A	ENST00000424789.2	+	23	3864	c.3860G>A	c.(3859-3861)cGg>cAg	p.R1287Q	TANC2_ENST00000389520.4_Missense_Mutation_p.R1297Q|RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1287					in utero embryonic development (GO:0001701)			p.R1297Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAAACTTTCCGGGAACTAAAG	0.502																																																	2	Substitution - Missense(2)	endometrium(2)											88	85	86					17																	61492980		1899	4131	6030	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3860G>A	17.37:g.61492980G>A	ENSP00000387593:p.Arg1287Gln		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1287Q	ENST00000424789.2	37	c.3860	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869294	0.91587	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.73575	-0.76;-0.76	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	N	0.04043	-0.29	0.53688	D	0.999978	B;P	0.47484	0.334;0.896	B;P	0.49361	0.04;0.608	T	0.62445	-0.6853	10	0.13470	T	0.59	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1297;1287	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	1297;1287	ENSP00000374171:R1297Q;ENSP00000387593:R1287Q	ENSP00000374171:R1297Q	R	+	2	0	TANC2	58846712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.759000	0.62227	2.713000	0.92767	0.655000	0.94253	CGG	TANC2	-	pfscan_TPR-contain_dom		0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61492980	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61492980	G	A	61492980	3	1	34	1	0	0	0	0	1	0	0	0	15575	1116	39	2	3950	2	TANC2	17	61492980	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	5202537	61492980	19702230	354	4821										
GNA13	10672	genome.wustl.edu	37	chr17	63052540	63052540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaaggtggacttgccgctctCgcccgcgcccagcagcagga	14	15	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:63052540C>T	ENST00000439174.2	-	1	417	c.172G>A	c.(172-174)Gag>Aag	p.E58K	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	58					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTGCCGCTCTCGCCCGCGCCC	0.617																																																	0													103	100	101					17																	63052540		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.172G>A	17.37:g.63052540C>T	ENSP00000400717:p.Glu58Lys		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.E58K	ENST00000439174.2	37	c.172	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597550	0.66332	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.82711	-1.64	3.67	2.68	0.31781	G protein alpha subunit, helical insertion (1);	0.138711	0.47455	U	0.000223	D	0.93805	0.8019	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93475	0.6822	10	0.87932	D	0	.	10.5062	0.44834	0.0:0.8992:0.0:0.1008	.	58	Q14344	GNA13_HUMAN	K	58	ENSP00000400717:E58K	ENSP00000239138:E58K	E	-	1	0	GNA13	60483002	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.373000	0.66162	0.510000	0.28216	0.462000	0.41574	GAG	GNA13	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.617	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	C	NM_006572		63052540	-1	no_errors	ENST00000439174	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63052540	C	T	63052540	3	4	34	1	0	0	0	0	1	0	0	0	6520	893	31	1	977	1	GNA13	17	63052540	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1559560	63052540	18142670	355	4822										
CCDC46	201134	genome.wustl.edu	37	chr17	64001810	64001810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cattacaattttactcacttCaaagcttcctcaaatttatg	2	10	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:64001810C>G	ENST00000392769.2	-	17	1952	c.1734G>C	c.(1732-1734)ttG>ttC	p.L578F	CEP112_ENST00000537949.1_Missense_Mutation_p.L536F|CEP112_ENST00000535342.2_Missense_Mutation_p.L578F|CEP112_ENST00000541355.1_Missense_Mutation_p.L213F	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	578					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTACTCACTTCAAAGCTTCCT	0.318																																																	0													64	64	64					17																	64001810		2202	4297	6499	SO:0001583	missense	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1734G>C	17.37:g.64001810C>G	ENSP00000376522:p.Leu578Phe		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.L578F	ENST00000392769.2	37	c.1734	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486148	0.44147	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.66	2.45	0.29901	.	0.338812	0.26163	N	0.025975	T	0.12433	0.0302	L	0.29908	0.895	0.33250	D	0.558405	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.006;0.006;0.006	T	0.08700	-1.0709	10	0.28530	T	0.3	-15.9074	5.4832	0.16735	0.1425:0.6367:0.1389:0.0819	.	536;536;578	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	F	578;578;213;536	ENSP00000442784:L578F;ENSP00000376522:L578F;ENSP00000443711:L213F;ENSP00000440775:L536F	ENSP00000376522:L578F	L	-	3	2	CEP112	61432272	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.481000	0.22260	1.522000	0.49001	0.650000	0.86243	TTG	CEP112	-	NULL		0.318	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	C	NM_145036		64001810	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64001810	C	G	64001810	3	3	34	1	0	0	0	0	1	0	0	0	2822	825	29	1	1343	1	CCDC46	17	64001810	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	949270	64001810	17193400	356	4823										
CD300C	10871	genome.wustl.edu	37	chr17	72541887	72541887	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caagcaggaggagcagagctGaagaccgccacgaggcccag	15	12	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:72541887G>A	ENST00000330793.1	-	1	395	c.35C>T	c.(34-36)tCa>tTa	p.S12L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	12					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GAGCAGAGCTGAAGACCGCCA	0.622																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													55	43	47					17																	72541887		2200	4299	6499	SO:0001583	missense	10871			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.35C>T	17.37:g.72541887G>A	ENSP00000329507:p.Ser12Leu			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S12L	ENST00000330793.1	37	c.35	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214054	0.39102	.	.	ENSG00000167850	ENST00000330793	T	0.03831	3.79	3.54	2.55	0.30701	.	1.473130	0.04826	N	0.437820	T	0.04182	0.0116	N	0.20483	0.58	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.40757	-0.9546	10	0.24483	T	0.36	.	7.3583	0.26731	0.1214:0.0:0.8786:0.0	.	12	Q08708	CLM6_HUMAN	L	12	ENSP00000329507:S12L	ENSP00000329507:S12L	S	-	2	0	CD300C	70053482	0.045000	0.20229	0.004000	0.12327	0.195000	0.23768	0.662000	0.25038	1.067000	0.40740	0.650000	0.86243	TCA	CD300C	-	NULL		0.622	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	G	NM_006678		72541887	-1	no_errors	ENST00000330793	ensembl	human	known	70_37	missense	SNP	0.004	A	A	72541887	G	A	72541887	3	1	34	1	0	0	0	0	1	0	0	0	3002	1294	45	1	655	1	CD300C	17	72541887	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	8540077	72541887	8653323	357	4824										
TNRC6C	57690	genome.wustl.edu	37	chr17	76060847	76060847	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctaatgttcactcaaagactGaaaactcttggggagaacca	8	9	3	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:76060847G>A	ENST00000588061.1	+	6	3167	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	TNRC6C_ENST00000588847.1_Missense_Mutation_p.E811K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E811K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E814K|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E814K|TNRC6C_ENST00000335749.4_Missense_Mutation_p.E811K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	814	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTCAAAGACTGAAAACTCTTG	0.498																																																	0													70	71	71					17																	76060847		1865	4121	5986	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2440G>A	17.37:g.76060847G>A	ENSP00000468647:p.Glu814Lys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E811K	ENST00000588061.1	37	c.2431	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499050	0.85069	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.66	5.66	0.87406	.	0.049930	0.85682	D	0.000000	T	0.27063	0.0663	M	0.64997	1.995	0.80722	D	1	B;P;D	0.58268	0.152;0.546;0.982	B;B;P	0.50405	0.116;0.221;0.64	T	0.06215	-1.0839	10	0.06236	T	0.91	-5.24	19.7234	0.96151	0.0:0.0:1.0:0.0	.	811;814;814	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	814;811;811;814;814;811	ENSP00000336783:E811K;ENSP00000301624:E814K;ENSP00000440310:E814K;ENSP00000442421:E811K	ENSP00000301624:E814K	E	+	1	0	TNRC6C	73572442	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	9.415000	0.97375	2.668000	0.90789	0.655000	0.94253	GAA	TNRC6C	-	NULL		0.498	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	G	NM_018996		76060847	1	no_errors	ENST00000335749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76060847	G	A	76060847	3	1	34	1	0	0	0	0	1	0	0	0	16372	1291	45	1	2446	1	TNRC6C	17	76060847	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3518960	76060847	5134363	358	4825										
RNF213	57674	genome.wustl.edu	37	chr17	78280985	78280985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaatgctgttgcgactcctgGacacttaccgggacaagtaa	10	10	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:78280985G>C	ENST00000582970.1	+	13	2628	c.2485G>C	c.(2485-2487)Gac>Cac	p.D829H	RNF213_ENST00000508628.2_Missense_Mutation_p.D878H|RNF213_ENST00000456466.1_Missense_Mutation_p.D829H|RNF213_ENST00000319921.4_Missense_Mutation_p.D829H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	829					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGACTCCTGGACACTTACCG	0.488																																																	0													136	134	135					17																	78280985		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2485G>C	17.37:g.78280985G>C	ENSP00000464087:p.Asp829His		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.D829H	ENST00000582970.1	37	c.2485	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	5.771	0.326613	0.10900	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13538	2.58;2.58	4.2	2.2	0.27929	.	0.594071	0.15226	N	0.273672	T	0.29355	0.0731	M	0.69823	2.125	0.25631	N	0.986306	D;D	0.89917	0.999;1.0	D;D	0.66979	0.948;0.948	T	0.03296	-1.1051	10	0.72032	D	0.01	-10.8551	6.0291	0.19671	0.2305:0.0:0.7695:0.0	.	829;829	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	H	829;878;829;829	ENSP00000392123:D829H;ENSP00000324392:D829H	ENSP00000324392:D829H	D	+	1	0	RNF213	75895580	0.928000	0.31464	0.206000	0.23566	0.003000	0.03518	0.327000	0.19663	1.112000	0.41740	0.655000	0.94253	GAC	RNF213	-	NULL		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78280985	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.210	C	C	78280985	G	C	78280985	3	2	34	1	0	0	0	0	1	0	0	0	13507	1174	41	1	2682	1	RNF213	17	78280985	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2220138	78280985	2914225	359	4826										
FSCN2	25794	genome.wustl.edu	37	chr17	79495605	79495605	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgaagatccagtttggcctCgtcaacgacactgaccgcta	9	13	1	3	rs199668780	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:79495605C>T	ENST00000417245.2	+	1	184	c.48C>T	c.(46-48)ctC>ctT	p.L16L	RP13-766D20.2_ENST00000442532.1_RNA|FSCN2_ENST00000334850.7_Silent_p.L16L|RP13-766D20.2_ENST00000430912.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	16					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTTTGGCCTCGTCAACGACA	0.632													c|||	5	0.000998403	8e-04	0	5008	,	,		16441	0		0.002	False		,,,				2504	0.002																0									,	2,4160		0,2,2079	25	27	27		48,48	-10.3	0	17		27	14,8390		0,14,4188	no	coding-synonymous,coding-synonymous	FSCN2	NM_001077182.2,NM_012418.3	,	0,16,6267	TT,TC,CC		0.1666,0.0481,0.1273	,	16/517,16/493	79495605	16,12550	2081	4202	6283	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.48C>T	17.37:g.79495605C>T			A0AVC4|A8MRA6	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.L16	ENST00000417245.2	37	c.48	CCDS45811.1	17																																																																																			FSCN2	-	superfamily_Actin_cross-linking		0.632	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	C	NM_012418		79495605	1	no_errors	ENST00000334850	ensembl	human	known	70_37	silent	SNP	0.001	T	T	79495605	C	T	79495605	2	4	34	1	0	0	0	0	0	0	0	1	6086	871	31	1		1	FSCN2	17	79495605	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1214620	79495605	1699605	360	4827										
MRPL12	6182	genome.wustl.edu	37	chr17	79674001	79674001	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	accgtccgcctgaccgaggcGaagcccgtggacaaagtgaa	13	13	0	2	rs149365217		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:79674001G>A	ENST00000333676.3	+	4	556	c.411G>A	c.(409-411)gcG>gcA	p.A137A	SLC25A10_ENST00000571730.1_Silent_p.A137A|SLC25A10_ENST00000541223.1_Silent_p.A137A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	137					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A137A(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGACCGAGGCGAAGCCCGTGG	0.567																																																	1	Substitution - coding silent(1)	breast(1)						G		1,4405	2.1+/-5.4	0,1,2202	75	62	67		411	-9.6	0	17	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/199	79674001	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1468			X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"Mitochondrial ribosomal proteins / large subunits"	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.411G>A	17.37:g.79674001G>A			Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A137	ENST00000333676.3	37	c.411	CCDS11785.1	17																																																																																			SLC25A10	-	pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom		0.567	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440812.1	G	NM_002949		79674001	1	no_errors	ENST00000541223	ensembl	human	known	70_37	silent	SNP	0.034	A	A	79674001	G	A	79674001	2	1	34	1	0	0	0	0	0	0	0	1	9800	1045	37	1		1	MRPL12	17	79674001	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	178396	79674001	1521209	361	4828										
MAPK4	5596	genome.wustl.edu	37	chr18	48248379	48248379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tccgggaggaagacaaggacGagctgctcagggtgatgcct	16	9	1	2	rs267605202		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:48248379G>A	ENST00000400384.2	+	4	1799	c.763G>A	c.(763-765)Gag>Aag	p.E255K	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E44K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGACAAGGACGAGCTGCTCAG	0.577																																																	0													73	83	80					18																	48248379		2071	4229	6300	SO:0001583	missense	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.763G>A	18.37:g.48248379G>A	ENSP00000383234:p.Glu255Lys		A1A4C4|Q0VG04	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,prints_MAPK_ERK3/4	p.E255K	ENST00000400384.2	37	c.763	CCDS42437.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.246917	0.95305	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.64618	-0.11;-0.11	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.13327	0.33	0.80722	D	1	P	0.38677	0.642	B	0.35510	0.204	T	0.40459	-0.9562	10	0.17369	T	0.5	-20.1725	18.1051	0.89517	0.0:0.0:1.0:0.0	.	255	P31152	MK04_HUMAN	K	255;44	ENSP00000383234:E255K;ENSP00000439231:E44K	ENSP00000383234:E255K	E	+	1	0	MAPK4	46502377	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	9.822000	0.99363	2.565000	0.86533	0.561000	0.74099	GAG	MAPK4	-	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,prints_MAPK_ERK3/4		0.577	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	G	NM_002747		48248379	1	no_errors	ENST00000400384	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48248379	G	A	48248379	3	1	34	1	0	0	0	0	1	0	0	0	9303	1059	37	1	773	1	MAPK4	18	48248379	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		48248379	29828869	362	4829										
SERPINB11	89778	genome.wustl.edu	37	chr18	61388146	61388146	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggagccgcagatgcaagttCttgagctgccctacgttaac	11	11	1	2	rs376671929		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:61388146C>G	ENST00000382749.5	+	0	945				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GATGCAAGTTCTTGAGCTGCC	0.353																																					Ovarian(27;496 784 5942 8975 23930)												0													65	65	65					18																	61388146		1875	4122	5997			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388146C>G			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L59V	ENST00000382749.5	37	c.175		18	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955759	0.53293	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	D;D	0.84370	-1.84;-1.84	5.76	3.88	0.44766	Serpin domain (3);	.	.	.	.	D	0.88062	0.6336	L	0.58428	1.81	0.25125	N	0.990615	D;B;D;D	0.71674	0.996;0.181;0.998;0.997	P;B;P;P	0.59487	0.819;0.054;0.858;0.848	T	0.78666	-0.2115	9	0.48119	T	0.1	.	9.6891	0.40116	0.1406:0.7862:0.0:0.0732	.	59;147;234;234	F5GWT8;Q96P15-2;F5GYW9;Q96P15	.;.;.;SPB11_HUMAN	V	234;59	ENSP00000441497:L234V;ENSP00000441708:L59V	ENSP00000421854:L234V	L	+	1	0	SERPINB11	59539126	0.820000	0.29190	0.440000	0.26846	0.632000	0.37999	1.567000	0.36407	1.445000	0.47624	0.650000	0.86243	CTT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.353	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61388146	1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	0.989	G	G	61388146	C	G	61388146	1	3	34	0	1	0	0	0	0	0	0	0	14128	913	32	1		1	SERPINB11	18	61388146	RNA	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	13139767	61388146	16689102	363	4830										
FBXO15	201456	genome.wustl.edu	37	chr18	71807467	71807467	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acccagaacagcaggagaaaGagctctcccagtgctgtcca	10	13	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:71807467G>A	ENST00000419743.2	-	2	276	c.197C>T	c.(196-198)tCt>tTt	p.S66F	FBXO15_ENST00000269500.5_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	66						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GCAGGAGAAAGAGCTCTCCCA	0.527																																																	0													48	47	47					18																	71807467		692	1591	2283	SO:0001583	missense	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.197C>T	18.37:g.71807467G>A	ENSP00000393154:p.Ser66Phe		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S66F	ENST00000419743.2	37	c.197	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	G	9.778	1.174528	0.21704	.	.	ENSG00000141665	ENST00000419743	T	0.51071	0.72	4.63	2.82	0.32997	.	.	.	.	.	T	0.37265	0.0997	L	0.39898	1.24	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.29305	-1.0016	9	0.52906	T	0.07	.	7.7953	0.29143	0.1993:0.0:0.8007:0.0	.	66	B3KST3	.	F	66	ENSP00000393154:S66F	ENSP00000393154:S66F	S	-	2	0	FBXO15	69958447	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.689000	0.25437	0.495000	0.27882	-0.145000	0.13849	TCT	FBXO15	-	NULL		0.527	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71807467	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	missense	SNP	0.004	A	A	71807467	G	A	71807467	3	1	34	1	0	0	0	0	1	0	0	0	5746	942	33	1	1371	1	FBXO15	18	71807467	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	10419321	71807467	6269781	364	4831										
NFATC1	4772	genome.wustl.edu	37	chr18	77208903	77208903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	catcacagggaagaccgtgtCcaccaccagccacgaggcca	10	16	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:77208903C>T	ENST00000427363.2	+	4	1508	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	NFATC1_ENST00000397790.2_Missense_Mutation_p.S31F|NFATC1_ENST00000542384.1_Missense_Mutation_p.S503F|NFATC1_ENST00000586434.1_Missense_Mutation_p.S490F|NFATC1_ENST00000253506.5_Missense_Mutation_p.S503F|NFATC1_ENST00000318065.5_Missense_Mutation_p.S490F|NFATC1_ENST00000591814.1_Missense_Mutation_p.S503F|NFATC1_ENST00000592223.1_Missense_Mutation_p.S490F|NFATC1_ENST00000545796.1_Missense_Mutation_p.S31F|NFATC1_ENST00000329101.4_Missense_Mutation_p.S490F|NFATC1_ENST00000587635.1_Missense_Mutation_p.S503F			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	503	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AAGACCGTGTCCACCACCAGC	0.647																																					GBM(151;1210 2593 28719 45011)												0													71	59	63					18																	77208903		2203	4300	6503	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1508C>T	18.37:g.77208903C>T	ENSP00000389377:p.Ser503Phe		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S503F	ENST00000427363.2	37	c.1508		18	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709346	0.89018	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.83	4.83	0.62350	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.117306	0.64402	D	0.000010	T	0.63094	0.2482	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.996;0.996;0.984;0.996;0.996;0.983;0.984	D;D;D;D;D;D;D	0.71414	0.934;0.934;0.911;0.973;0.973;0.958;0.911	T	0.67150	-0.5743	10	0.87932	D	0	-34.2614	17.945	0.89036	0.0:1.0:0.0:0.0	.	490;490;503;503;503;490;503	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	F	503;503;31;503;490;31;490;467	ENSP00000253506:S503F;ENSP00000380892:S31F;ENSP00000442435:S503F;ENSP00000327850:S490F;ENSP00000439992:S31F	ENSP00000253506:S503F	S	+	2	0	NFATC1	75309891	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	7.450000	0.80656	2.230000	0.72887	0.561000	0.74099	TCC	NFATC1	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.647	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	C	NM_172390		77208903	1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77208903	C	T	77208903	3	4	34	1	0	0	0	0	1	0	0	0	10385	855	30	1	1614	1	NFATC1	18	77208903	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	5401436	77208903	868345	365	4832										
POLR2E	5434	genome.wustl.edu	37	chr19	1090928	1090928	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcgtgctccgtgatgttgatGagcagctcctgctgcagaaa	12	10	0	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:1090928G>A	ENST00000215587.7	-	4	691	c.408C>T	c.(406-408)ctC>ctT	p.L136L	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.L136L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	136					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGTTGATGAGCAGCTCCT	0.657																																																	0													63	59	60					19																	1090928		2203	4300	6503	SO:0001819	synonymous_variant	5434				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.408C>T	19.37:g.1090928G>A			B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su	p.L136	ENST00000215587.7	37	c.408	CCDS12056.1	19																																																																																			POLR2E	-	superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su		0.657	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2E	HGNC	protein_coding	OTTHUMT00000458044.1	G	NM_002695		1090928	-1	no_errors	ENST00000215587	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1090928	G	A	1090928	2	1	34	1	0	0	0	0	0	0	0	1	12242	1277	45	1		1	POLR2E	19	1090928	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		1090928	58038055	366	4833										
EEF2	1938	genome.wustl.edu	37	chr19	3979965	3979965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcgaaggtggtgatggtgccCgtcttcaccaggaactggtc	14	10	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:3979965C>T	ENST00000309311.6	-	10	1534	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	482					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGGTGCCCGTCTTCACCA	0.602																																					Colon(165;1804 1908 4071 6587 18799)												0													71	57	62					19																	3979965		2203	4300	6503	SO:0001819	synonymous_variant	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1446G>A	19.37:g.3979965C>T			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.T482	ENST00000309311.6	37	c.1446	CCDS12117.1	19																																																																																			EEF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.602	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	C	NM_001961		3979965	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	silent	SNP	0.003	T	T	3979965	C	T	3979965	2	4	34	1	0	0	0	0	0	0	0	1	4939	639	23	2		2	EEF2	19	3979965	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2889037	3979965	55149018	367	4834										
SH3GL1	6455	genome.wustl.edu	37	chr19	4364097	4364097	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agcagcacctggatctccttCaggtctttctcgcacaggtt	9	13	4	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:4364097C>T	ENST00000269886.3	-	5	631	c.453G>A	c.(451-453)ctG>ctA	p.L151L	SH3GL1_ENST00000598564.1_Silent_p.L87L|SH3GL1_ENST00000417295.2_Silent_p.L103L|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	151	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GGATCTCCTTCAGGTCTTTCT	0.637			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													38	33	35					19																	4364097		2203	4300	6503	SO:0001819	synonymous_variant	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.453G>A	19.37:g.4364097C>T			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.L151	ENST00000269886.3	37	c.453	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom		0.637	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	C	NM_003025		4364097	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4364097	C	T	4364097	2	4	34	1	0	0	0	0	0	0	0	1	14280	813	29	1		1	SH3GL1	19	4364097	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	384132	4364097	54764886	368	4835										
FUT5	2527	genome.wustl.edu	37	chr19	5867440	5867440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgttgcagtcggccgcgccGggcaccatctctgagcagcg	14	14	1	1	rs373593937		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:5867440G>A	ENST00000588525.1	-	2	384	c.297C>T	c.(295-297)ccC>ccT	p.P99P	FUT5_ENST00000252675.5_Silent_p.P99P	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	99					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CGGCCGCGCCGGGCACCATCT	0.627																																																	0								G		0,4406		0,0,2203	55	54	54		297	-4.2	0	19		54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FUT5	NM_002034.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		99/375	5867440	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2527				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.297C>T	19.37:g.5867440G>A			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.P99	ENST00000588525.1	37	c.297	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10		0.627	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	G	NM_002034		5867440	-1	no_errors	ENST00000252675	ensembl	human	known	70_37	silent	SNP	0.000	A	A	5867440	G	A	5867440	2	1	34	1	0	0	0	0	0	0	0	1	6125	1103	39	2		2	FUT5	19	5867440	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1503343	5867440	53261543	369	4836										
C19orf45	374877	genome.wustl.edu	37	chr19	7570449	7570449	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	actccggagtcgcacatcctGaaaggaaattggtgccccgg	12	12	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:7570449G>A	ENST00000361664.2	+	6	1083	c.942G>A	c.(940-942)ctG>ctA	p.L314L	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	314										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CGCACATCCTGAAAGGAAATT	0.607																																																	0													47	52	50					19																	7570449		2203	4300	6503	SO:0001819	synonymous_variant	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.942G>A	19.37:g.7570449G>A			Q8N115	Silent	SNP	NULL	p.L314	ENST00000361664.2	37	c.942	CCDS12179.2	19																																																																																			C19orf45	-	NULL		0.607	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf45	HGNC	protein_coding	OTTHUMT00000347808.1	G	NM_198534		7570449	1	no_errors	ENST00000361664	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7570449	G	A	7570449	2	1	34	1	0	0	0	0	0	0	0	1	1933	1277	45	1		1	C19orf45	19	7570449	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1703009	7570449	51558534	370	4837										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8650111	8650111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggcggcgggtgagcagtgcgCcgggggcagcgtggcgcggt	24	10	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:8650111C>T	ENST00000597188.1	-	24	3217	c.2947G>A	c.(2947-2949)Gcg>Acg	p.A983T	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.A470T|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.A983T|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	983	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAGCAGTGCGCCGGGGGCAGC	0.746																																																	0													3	5	4					19																	8650111		1748	3483	5231	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2947G>A	19.37:g.8650111C>T	ENSP00000471851:p.Ala983Thr		M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A983T	ENST00000597188.1	37	c.2947	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	C	9.948	1.219341	0.22373	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.60797	0.16	4.92	-0.398	0.12418	.	0.314329	0.29846	N	0.011044	T	0.32734	0.0839	N	0.16266	0.395	0.09310	N	1	B;B;B	0.23128	0.001;0.001;0.08	B;B;B	0.24006	0.005;0.007;0.05	T	0.10222	-1.0639	10	0.32370	T	0.25	.	4.6244	0.12470	0.212:0.4333:0.0:0.3547	.	786;983;470	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	T	983;786	ENSP00000270328:A983T	ENSP00000270328:A983T	A	-	1	0	ADAMTS10	8556111	0.020000	0.18652	0.001000	0.08648	0.086000	0.17979	0.339000	0.19875	0.132000	0.18615	0.455000	0.32223	GCG	ADAMTS10	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.746	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	C	NM_030957		8650111	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	0.001	T	T	8650111	C	T	8650111	3	4	34	1	0	0	0	0	1	0	0	0	256	739	26	4	376	4	ADAMTS10	19	8650111	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1079662	8650111	50478872	371	4838										
CACNA1A	773	genome.wustl.edu	37	chr19	13409479	13409479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggggccctcgccctcgccctCgccgccccgggccggccggc	15	23	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:13409479C>T	ENST00000360228.5	-	19	2967	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E991K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	991					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ccctcgccctcgccgccccgg	0.786																																																	0													7	6	7					19																	13409479		1181	2419	3600	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2968G>A	19.37:g.13409479C>T	ENSP00000353362:p.Glu990Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.E990K	ENST00000360228.5	37	c.2968	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587110	0.28268	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95821	-3.82	3.89	3.89	0.44902	.	1.259060	0.05609	N	0.577850	D	0.93197	0.7833	L	0.52573	1.65	0.28497	N	0.914179	B;B;B	0.15473	0.011;0.013;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.78682	-0.2109	10	0.07482	T	0.82	.	14.6318	0.68660	0.0:1.0:0.0:0.0	.	991;994;990	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	990;994;991;991	ENSP00000353362:E990K	ENSP00000317661:E991K	E	-	1	0	CACNA1A	13270479	0.744000	0.28250	0.988000	0.46212	0.367000	0.29736	3.653000	0.54446	1.732000	0.51606	0.462000	0.41574	GAG	CACNA1A	-	NULL		0.786	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13409479	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	0.997	T	T	13409479	C	T	13409479	3	4	34	1	0	0	0	0	1	0	0	0	2543	893	31	1	4770	1	CACNA1A	19	13409479	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4759368	13409479	45719504	372	4839										
NDUFB7	4713	genome.wustl.edu	37	chr19	14677664	14677664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cacgcttgcacttgagcagcCggatgaggtggtgggcgcag	17	10	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:14677664C>T	ENST00000215565.2	-	2	255	c.194G>A	c.(193-195)cGg>cAg	p.R65Q		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	65					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTGAGCAGCCGGATGAGGTG	0.657																																																	0													58	48	52					19																	14677664		2196	4288	6484	SO:0001583	missense	4713				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.194G>A	19.37:g.14677664C>T	ENSP00000215565:p.Arg65Gln		Q6ICN9|Q9UI16	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.R65Q	ENST00000215565.2	37	c.194	CCDS12314.1	19	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034854	0.19590	.	.	ENSG00000099795	ENST00000215565	T	0.42513	0.97	4.76	-1.18	0.09617	.	0.365474	0.29293	N	0.012571	T	0.27594	0.0678	L	0.41236	1.265	0.19575	N	0.999965	B	0.10296	0.003	B	0.12156	0.007	T	0.29579	-1.0007	10	0.13470	T	0.59	-10.4819	10.4606	0.44577	0.0:0.5452:0.0:0.4548	.	65	P17568	NDUB7_HUMAN	Q	65	ENSP00000215565:R65Q	ENSP00000215565:R65Q	R	-	2	0	NDUFB7	14538664	0.792000	0.28813	0.281000	0.24762	0.843000	0.47879	0.029000	0.13666	-0.504000	0.06577	-1.975000	0.00460	CGG	NDUFB7	-	pfam_NADH_UbQ_OxRdtase_B18_su		0.657	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	C	NM_004146		14677664	-1	no_errors	ENST00000215565	ensembl	human	known	70_37	missense	SNP	0.381	T	T	14677664	C	T	14677664	3	4	34	1	0	0	0	0	1	0	0	0	10310	652	23	2	227	2	NDUFB7	19	14677664	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1268185	14677664	44451319	373	4840										
MYO9B	4650	genome.wustl.edu	37	chr19	17320447	17320447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggaaatacaaagtgaagatgGaggagatcagccaactggag	14	5	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:17320447G>A	ENST00000594824.1	+	36	5824	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K	MYO9B_ENST00000595618.1_Missense_Mutation_p.E1893K|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1893K|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1893	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGTGAAGATGGAGGAGATCAG	0.577																																																	0													64	77	73					19																	17320447		2111	4231	6342	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5677G>A	19.37:g.17320447G>A	ENSP00000471367:p.Glu1893Lys		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1893K	ENST00000594824.1	37	c.5677		19	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891433	0.33442	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.83755	-1.76	4.0	2.96	0.34315	.	0.301930	0.23356	N	0.049067	T	0.66992	0.2846	N	0.21142	0.635	0.34127	D	0.664816	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.61903	-0.6967	10	0.15952	T	0.53	.	7.0135	0.24875	0.0959:0.1749:0.7292:0.0	.	1893;1893;1899	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	K	1893;238	ENSP00000380444:E1893K	ENSP00000314032:E238K	E	+	1	0	MYO9B	17181447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.142000	0.64820	1.039000	0.40074	0.561000	0.74099	GAG	MYO9B	-	NULL		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17320447	1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17320447	G	A	17320447	3	1	34	1	0	0	0	0	1	0	0	0	10108	1175	41	1	5815	1	MYO9B	19	17320447	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2642783	17320447	41808536	374	4841										
UPF1	5976	genome.wustl.edu	37	chr19	18976551	18976551	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgagccagccttcccagatGagccagcccggcctctccca	9	18	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:18976551G>A	ENST00000599848.1	+	22	3443	c.3234G>A	c.(3232-3234)atG>atA	p.M1078I	UPF1_ENST00000262803.5_Missense_Mutation_p.M1067I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1078	Gln/Ser-rich.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCCCAGATGAGCCAGCCCG	0.652																																																	0													56	61	59					19																	18976551		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3234G>A	19.37:g.18976551G>A	ENSP00000470142:p.Met1078Ile		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.M1078I	ENST00000599848.1	37	c.3234		19	.	.	.	.	.	.	.	.	.	.	g	18.80	3.700444	0.68501	.	.	ENSG00000005007	ENST00000262803	D	0.89485	-2.52	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	L	0.29908	0.895	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.13407	0.007;0.009	T	0.78656	-0.2119	10	0.32370	T	0.25	-54.743	16.7116	0.85387	0.0:0.0:1.0:0.0	.	1078;1067	Q92900;Q92900-2	RENT1_HUMAN;.	I	1067	ENSP00000262803:M1067I	ENSP00000262803:M1067I	M	+	3	0	UPF1	18837551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.591000	0.82666	2.285000	0.76669	0.479000	0.44913	ATG	UPF1	-	NULL		0.652	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	G	NM_002911		18976551	1	no_errors	ENST00000599848	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18976551	G	A	18976551	3	1	34	1	0	0	0	0	1	0	0	0	17034	1290	45	1	3287	1	UPF1	19	18976551	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1656104	18976551	40152432	375	4842										
CILP2	148113	genome.wustl.edu	37	chr19	19653318	19653318	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgtggccaccagcgatgctCacggaaccttccgggtgcct	12	15	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:19653318C>G	ENST00000291495.5	+	5	812	c.727C>G	c.(727-729)Cac>Gac	p.H243D	CILP2_ENST00000588333.2_3'UTR|CILP2_ENST00000586018.1_Missense_Mutation_p.H249D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	243						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGCGATGCTCACGGAACCTT	0.662																																																	0													43	40	41					19																	19653318		2203	4300	6503	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.727C>G	19.37:g.19653318C>G	ENSP00000291495:p.His243Asp		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.H243D	ENST00000291495.5	37	c.727	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.553957	0.00918	.	.	ENSG00000160161	ENST00000291495	T	0.36340	1.26	5.23	4.19	0.49359	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.183017	0.46145	D	0.000318	T	0.28234	0.0697	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.19877	-1.0292	10	0.12103	T	0.63	-5.8144	11.5294	0.50599	0.0:0.9114:0.0:0.0886	.	243;243	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	243	ENSP00000291495:H243D	ENSP00000291495:H243D	H	+	1	0	CILP2	19514318	0.001000	0.12720	0.056000	0.19401	0.086000	0.17979	0.731000	0.26058	1.204000	0.43247	0.555000	0.69702	CAC	CILP2	-	superfamily_CarboxyPept-like_regulatory		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	C	NM_153221		19653318	1	no_errors	ENST00000291495	ensembl	human	known	70_37	missense	SNP	0.052	G	G	19653318	C	G	19653318	3	3	34	1	0	0	0	0	1	0	0	0	3435	826	29	1	745	1	CILP2	19	19653318	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	676767	19653318	39475665	376	4843										
ZNF493	284443	genome.wustl.edu	37	chr19	21588589	21588589	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgtctctaagccagatctgGtcacctgtctggagcaagga	11	11	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:21588589G>A	ENST00000355504.4	+	1	135				ZNF493_ENST00000594390.1_Missense_Mutation_p.V62I|ZNF493_ENST00000596302.1_Missense_Mutation_p.V63I|ZNF493_ENST00000392288.2_Missense_Mutation_p.V62I|ZNF493_ENST00000339914.6_Missense_Mutation_p.V63I|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.V43I	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCCAGATCTGGTCACCTGTCT	0.403																																																	0													76	79	78					19																	21588589		2203	4300	6503	SO:0001627	intron_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+8520G>A	19.37:g.21588589G>A			G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.V63I	ENST00000355504.4	37	c.187	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.297366	0.00243	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.00724	5.78;5.78	1.13	-1.94	0.07571	.	.	.	.	.	T	0.00300	0.0009	N	0.00980	-1.08	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.41484	-0.9506	9	0.02654	T	1	.	4.3685	0.11235	0.4647:0.0:0.5353:0.0	.	62;63	Q6ZR52-2;G5E974	.;.	I	62;63	ENSP00000376110:V62I;ENSP00000340651:V63I	ENSP00000340651:V63I	V	+	1	0	ZNF493	21380429	0.014000	0.17966	0.000000	0.03702	0.005000	0.04900	0.290000	0.18975	-0.549000	0.06191	-0.382000	0.06688	GTC	ZNF493	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.403	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	G	NM_175910		21588589	1	no_errors	ENST00000596302	ensembl	human	putative	70_37	missense	SNP	0.000	A	A	21588589	G	A	21588589	1	1	34	0	1	0	0	0	0	0	0	0	17974	1261	44	4		4	ZNF493	19	21588589	Intron	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1935271	21588589	37540394	377	4844										
ZNF99	7652	genome.wustl.edu	37	chr19	22941062	22941062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcttatgtttcataagggttGaggaattgttaaaagctttg	10	3	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:22941062G>A	ENST00000596209.1	-	4	1739	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	ZNF99_ENST00000397104.3_Missense_Mutation_p.S459L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATAAGGGTTGAGGAATTGTT	0.338																																																	0													40	43	42					19																	22941062		2048	4206	6254	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1649C>T	19.37:g.22941062G>A	ENSP00000472969:p.Ser550Leu		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S459L	ENST00000596209.1	37	c.1376	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	7.856	0.724951	0.15439	.	.	ENSG00000213973	ENST00000397104	T	0.01705	4.68	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	M	0.71206	2.165	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.13548	-1.0505	9	0.52906	T	0.07	.	9.5079	0.39058	0.0:0.0:1.0:0.0	.	459	A8MXY4	ZNF99_HUMAN	L	459	ENSP00000380293:S459L	ENSP00000380293:S459L	S	-	2	0	ZNF99	22732902	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.093000	0.11111	0.680000	0.31366	0.400000	0.26472	TCA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	G	XM_065124		22941062	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	A	A	22941062	G	A	22941062	3	1	34	1	0	0	0	0	1	0	0	0	18234	1294	45	1	1748	1	ZNF99	19	22941062	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1352473	22941062	36187921	378	4845										
SCN1B	6324	genome.wustl.edu	37	chr19	35524562	35524562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cgggcgactacgagtgccacGtctaccgcctgctcttcttc	10	16	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:35524562G>A	ENST00000262631.5	+	3	504	c.367G>A	c.(367-369)Gtc>Atc	p.V123I	CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.V123I	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	123	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAGTGCCACGTCTACCGCCT	0.552																																																	0													173	135	148					19																	35524562		2203	4300	6503	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.367G>A	19.37:g.35524562G>A	ENSP00000262631:p.Val123Ile		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.V123I	ENST00000262631.5	37	c.367	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769996	0.49680	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	T;T	0.32515	1.45;1.45	4.22	4.22	0.49857	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.139370	0.49305	D	0.000152	T	0.26011	0.0634	N	0.10733	0.035	0.39213	D	0.963365	P;D	0.59767	0.803;0.986	B;P	0.55303	0.243;0.773	T	0.10154	-1.0642	10	0.36615	T	0.2	-43.4957	12.2758	0.54735	0.0:0.0:1.0:0.0	.	123;123	Q07699;Q07699-2	SCN1B_HUMAN;.	I	123	ENSP00000262631:V123I;ENSP00000396915:V123I	ENSP00000262631:V123I	V	+	1	0	SCN1B	40216402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.095000	0.57728	2.351000	0.79841	0.484000	0.47621	GTC	SCN1B	-	pfam_Immunoglobulin,pfam_Ig_V-set		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	G			35524562	1	no_errors	ENST00000262631	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35524562	G	A	35524562	3	1	34	1	0	0	0	0	1	0	0	0	13945	1145	40	2	377	2	SCN1B	19	35524562	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	12583500	35524562	23604421	379	4846										
ZNF793	390927	genome.wustl.edu	37	chr19	38028578	38028578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acacaggagaaagaccgtatCgttgcagagaatgtggaaaa	12	6	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:38028578C>T	ENST00000587143.1	+	6	1253	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	ZNF793_ENST00000542455.1_Missense_Mutation_p.R340C|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.R340C			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGACCGTATCGTTGCAGAGA	0.458																																					Melanoma(44;400 1431 1499 19093)												0													92	102	99					19																	38028578		2170	4282	6452	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1018C>T	19.37:g.38028578C>T	ENSP00000468605:p.Arg340Cys		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R340C	ENST00000587143.1	37	c.1018	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479634	0.26511	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.15139	2.45;2.45	4.13	0.392	0.16288	.	0.466719	0.16274	N	0.221656	T	0.17066	0.0410	L	0.46885	1.475	0.09310	N	1	D	0.57571	0.98	P	0.48901	0.594	T	0.10359	-1.0633	10	0.87932	D	0	.	4.4559	0.11643	0.307:0.5105:0.0:0.1825	.	340	E9PGN4	.	C	340;340;340;339	ENSP00000444355:R340C;ENSP00000396402:R340C	ENSP00000318811:R339C	R	+	1	0	ZNF793	42720418	0.000000	0.05858	0.101000	0.21167	0.318000	0.28184	-3.153000	0.00581	0.461000	0.27071	-0.133000	0.14855	CGT	ZNF793	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	C	NM_001013659		38028578	1	no_errors	ENST00000445217	ensembl	human	known	70_37	missense	SNP	0.006	T	T	38028578	C	T	38028578	3	4	34	1	0	0	0	0	1	0	0	0	18195	884	31	1	1032	1	ZNF793	19	38028578	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2504016	38028578	21100405	380	4847										
RYR1	6261	genome.wustl.edu	37	chr19	38991553	38991553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggaccgtgtgtatggcatcGagaaccaggacttcttgctg	13	9	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:38991553G>A	ENST00000359596.3	+	47	7537	c.7537G>A	c.(7537-7539)Gag>Aag	p.E2513K	RYR1_ENST00000355481.4_Missense_Mutation_p.E2513K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2513K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2513	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E2513Q(1)|p.E2513*(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTATGGCATCGAGAACCAGGA	0.632																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)											102	71	81					19																	38991553		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7537G>A	19.37:g.38991553G>A	ENSP00000352608:p.Glu2513Lys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E2513K	ENST00000359596.3	37	c.7537	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383010	0.42207	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97161	-4.27;-4.27;-4.27	4.41	4.41	0.53225	.	0.075454	0.50627	U	0.000103	D	0.93245	0.7848	L	0.37561	1.115	0.52099	D	0.999949	P;P	0.52577	0.954;0.923	B;B	0.36608	0.229;0.114	D	0.92988	0.6412	10	0.33940	T	0.23	.	15.9284	0.79639	0.0:0.0:1.0:0.0	.	2513;2513	P21817-2;P21817	.;RYR1_HUMAN	K	2513	ENSP00000352608:E2513K;ENSP00000347667:E2513K;ENSP00000354254:E2513K	ENSP00000347667:E2513K	E	+	1	0	RYR1	43683393	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	6.561000	0.73955	2.259000	0.74868	0.491000	0.48974	GAG	RYR1	-	NULL		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38991553	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38991553	G	A	38991553	3	1	34	1	0	0	0	0	1	0	0	0	13798	1059	37	1	7723	1	RYR1	19	38991553	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	962975	38991553	20137430	381	4848										
ZNF526	116115	genome.wustl.edu	37	chr19	42729195	42729195	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccacccctgaggagttcttgGagcatcagggcacccacttt	10	14	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:42729195G>C	ENST00000301215.3	+	3	865	c.640G>C	c.(640-642)Gag>Cag	p.E214Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	214	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGAGTTCTTGGAGCATCAGGG	0.552																																																	0													120	110	113					19																	42729195		2203	4300	6503	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.640G>C	19.37:g.42729195G>C	ENSP00000301215:p.Glu214Gln		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E214Q	ENST00000301215.3	37	c.640	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639106	0.47153	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.27557	1.66	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.168155	0.39909	N	0.001239	T	0.23370	0.0565	L	0.33245	0.995	0.30591	N	0.761568	B	0.30824	0.296	B	0.29942	0.109	T	0.07908	-1.0748	10	0.12103	T	0.63	-13.6942	16.5388	0.84380	0.0:0.0:1.0:0.0	.	214	Q8TF50	ZN526_HUMAN	Q	70;214	ENSP00000301215:E214Q	ENSP00000301215:E214Q	E	+	1	0	ZNF526	47421035	0.054000	0.20591	1.000000	0.80357	0.997000	0.91878	1.305000	0.33493	2.514000	0.84764	0.563000	0.77884	GAG	ZNF526	-	smart_Znf_C2H2-like		0.552	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	G	XM_057401		42729195	1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42729195	G	C	42729195	3	2	34	1	0	0	0	0	1	0	0	0	17997	1175	41	1	642	1	ZNF526	19	42729195	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3737642	42729195	16399788	382	4849										
PSG6	5675	genome.wustl.edu	37	chr19	43411200	43411200	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gagcttttgtcctgatagctGaaacttcccattaattgtcc	7	10	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:43411200G>A	ENST00000292125.2	-	5	1158	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	PSG6_ENST00000402603.4_Nonsense_Mutation_p.Q279*|PSG6_ENST00000187910.2_Nonsense_Mutation_p.Q372*	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	372	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCTGATAGCTGAAACTTCCCA	0.453																																																	0													192	206	201					19																	43411200		2201	4299	6500	SO:0001587	stop_gained	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1114C>T	19.37:g.43411200G>A	ENSP00000292125:p.Gln372*		O75244|Q15224|Q15235|Q549K1	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q372*	ENST00000292125.2	37	c.1114	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	-	13.89	2.371018	0.42003	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	.	.	.	1.54	0.338	0.15974	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.1108	0.10058	0.2477:0.0:0.7523:0.0	.	.	.	.	X	372;279;372	.	ENSP00000187910:Q372X	Q	-	1	0	PSG6	48103040	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.004000	0.12878	0.004000	0.14682	0.134000	0.15878	CAG	PSG6	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	G	NM_002782		43411200	-1	no_errors	ENST00000292125	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	43411200	G	A	43411200	4	1	34	1	0	0	0	0	0	1	0	0	12686	1299	45	1	240	1	PSG6	19	43411200	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	682005	43411200	15717783	383	4850										
PHLDB3	653583	genome.wustl.edu	37	chr19	44008063	44008063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cctcgggcccctcaccgcgtCgcggctgctctcagtgctgc	12	19	2	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:44008063C>T	ENST00000292140.5	-	2	568	c.208G>A	c.(208-210)Gac>Aac	p.D70N	PHLDB3_ENST00000599242.1_Missense_Mutation_p.D70N	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	70							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCACCGCGTCGCGGCTGCTC	0.662																																																	0													37	39	38					19																	44008063		2203	4300	6503	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.208G>A	19.37:g.44008063C>T	ENSP00000292140:p.Asp70Asn		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D70N	ENST00000292140.5	37	c.208	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082067	0.76528	.	.	ENSG00000176531	ENST00000292140	T	0.55588	0.51	4.76	3.72	0.42706	.	1.371530	0.04580	N	0.394729	T	0.41096	0.1144	L	0.29908	0.895	0.23628	N	0.997252	P;B	0.34462	0.454;0.014	B;B	0.23852	0.049;0.005	T	0.35201	-0.9798	10	0.52906	T	0.07	.	9.3029	0.37856	0.0:0.899:0.0:0.101	.	70;70	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	N	70	ENSP00000292140:D70N	ENSP00000292140:D70N	D	-	1	0	PHLDB3	48699903	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.489000	0.35562	1.157000	0.42530	0.298000	0.19748	GAC	PHLDB3	-	NULL		0.662	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	C			44008063	-1	no_errors	ENST00000292140	ensembl	human	known	70_37	missense	SNP	0.998	T	T	44008063	C	T	44008063	3	4	34	1	0	0	0	0	1	0	0	0	11877	884	31	1	1774	1	PHLDB3	19	44008063	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	596863	44008063	15120920	384	4851										
ETHE1	23474	genome.wustl.edu	37	chr19	44012175	44012175	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctgagggtgagccgagggttCagagtcctctcctcctccac	12	14	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:44012175C>T	ENST00000292147.2	-	6	699	c.633G>A	c.(631-633)ctG>ctA	p.L211L	ETHE1_ENST00000600651.1_Silent_p.L211L	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	211					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GCCGAGGGTTCAGAGTCCTCT	0.562																																																	0													78	62	68					19																	44012175		2203	4300	6503	SO:0001819	synonymous_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.633G>A	19.37:g.44012175C>T			Q96HR0|Q9H001	Silent	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.L211	ENST00000292147.2	37	c.633	CCDS12622.1	19																																																																																			ETHE1	-	NULL		0.562	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	C	NM_014297		44012175	-1	no_errors	ENST00000292147	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44012175	C	T	44012175	2	4	34	1	0	0	0	0	0	0	0	1	5284	813	29	1		1	ETHE1	19	44012175	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	4112	44012175	15116808	385	4852										
CEACAM20	125931	genome.wustl.edu	37	chr19	45029244	45029244	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cattgagggtgagctgggctGcagctggaggactccatacg	16	9	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:45029244G>A	ENST00000454753.1	-	0	364							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GAGCTGGGCTGCAGCTGGAGG	0.582																																																	0													105	113	110					19																	45029244		2098	4216	6314			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029244G>A				RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-		0.582	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	G	NM_198444		45029244	-1	no_errors	ENST00000316962	ensembl	human	known	70_37	rna	SNP	0.131	A	A	45029244	G	A	45029244	1	1	34	0	1	0	0	0	0	0	0	0	3196	1319	46	4		4	CEACAM20	19	45029244	RNA	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1017069	45029244	14099739	386	4853										
NANOS2	339345	genome.wustl.edu	37	chr19	46417623	46417623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	taagcgggcagtacttgagcGtatgggcctggtcaccggtg	16	9	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:46417623G>A	ENST00000341294.2	-	1	413	c.329C>T	c.(328-330)aCg>aTg	p.T110M		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	110					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GTACTTGAGCGTATGGGCCTG	0.652																																																	0													60	54	56					19																	46417623		2203	4300	6503	SO:0001583	missense	339345			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.329C>T	19.37:g.46417623G>A	ENSP00000341021:p.Thr110Met		Q17R30|Q4G0P8	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.T110M	ENST00000341294.2	37	c.329	CCDS33056.1	19	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722740	0.89298	.	.	ENSG00000188425	ENST00000341294	T	0.58940	0.3	4.64	4.64	0.57946	Zinc finger, nanos-type (2);	0.000000	0.64402	D	0.000002	T	0.80497	0.4634	M	0.91249	3.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85222	0.1027	10	0.87932	D	0	-27.6711	15.0415	0.71793	0.0:0.0:1.0:0.0	.	110	P60321	NANO2_HUMAN	M	110	ENSP00000341021:T110M	ENSP00000341021:T110M	T	-	2	0	NANOS2	51109463	1.000000	0.71417	0.994000	0.49952	0.825000	0.46686	8.796000	0.91877	2.424000	0.82194	0.484000	0.47621	ACG	NANOS2	-	pfam_Znf_nanos-typ		0.652	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOS2	HGNC	protein_coding	OTTHUMT00000461685.1	G			46417623	-1	no_errors	ENST00000341294	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46417623	G	A	46417623	3	1	34	1	0	0	0	0	1	0	0	0	10175	1145	40	2	91	2	NANOS2	19	46417623	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1388379	46417623	12711360	387	4854										
PPP5C	5536	genome.wustl.edu	37	chr19	46891689	46891689	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	catgtgtgacctgctctggtCagatccacagccacaggtga	11	12	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:46891689C>G	ENST00000012443.4	+	10	1263	c.1160C>G	c.(1159-1161)tCa>tGa	p.S387*	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Nonsense_Mutation_p.S259*	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	387	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTGCTCTGGTCAGATCCACAG	0.662																																																	0													51	48	49					19																	46891689		2203	4300	6503	SO:0001587	stop_gained	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1160C>G	19.37:g.46891689C>G	ENSP00000012443:p.Ser387*		Q16722|Q53XV2	Nonsense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.S387*	ENST00000012443.4	37	c.1160	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.402550	0.98262	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	.	.	.	4.8	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.285	10.0362	0.42131	0.0:0.9005:0.0:0.0995	.	.	.	.	X	387;374;259	.	ENSP00000012443:S387X	S	+	2	0	PPP5C	51583529	1.000000	0.71417	0.946000	0.38457	0.864000	0.49448	7.106000	0.77039	2.211000	0.71520	0.491000	0.48974	TCA	PPP5C	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase		0.662	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	C	NM_006247		46891689	1	no_errors	ENST00000012443	ensembl	human	known	70_37	nonsense	SNP	0.996	G	G	46891689	C	G	46891689	4	3	34	1	0	0	0	0	0	1	0	0	12433	838	29	1	1198	1	PPP5C	19	46891689	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	474066	46891689	12237294	388	4855										
DKKL1	27120	genome.wustl.edu	37	chr19	49869116	49869116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggcatccattcaaccagcgGaggggagcttcgagggtgat	15	9	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:49869116G>A	ENST00000221498.2	+	4	796	c.391G>A	c.(391-393)Gag>Aag	p.E131K	DKKL1_ENST00000594268.1_Intron|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	131					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TCAACCAGCGGAGGGGAGCTT	0.498																																																	0													105	97	100					19																	49869116		2203	4300	6503	SO:0001583	missense	27120			AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.391G>A	19.37:g.49869116G>A	ENSP00000221498:p.Glu131Lys			Missense_Mutation	SNP	NULL	p.E131K	ENST00000221498.2	37	c.391	CCDS12762.1	19	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738383	0.49045	.	.	ENSG00000104901	ENST00000221498	T	0.18502	2.21	4.5	2.32	0.28847	.	0.437670	0.19472	N	0.113428	T	0.18383	0.0441	M	0.68593	2.085	0.09310	N	1	B	0.23937	0.094	B	0.26864	0.074	T	0.21177	-1.0253	10	0.87932	D	0	-19.7931	6.4566	0.21934	0.1:0.1829:0.7171:0.0	.	131	Q9UK85	DKKL1_HUMAN	K	131	ENSP00000221498:E131K	ENSP00000221498:E131K	E	+	1	0	DKKL1	54560928	0.208000	0.23494	0.006000	0.13384	0.070000	0.16714	1.508000	0.35769	0.636000	0.30508	0.561000	0.74099	GAG	DKKL1	-	NULL		0.498	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKKL1	HGNC	protein_coding	OTTHUMT00000465454.2	G	NM_014419		49869116	1	no_errors	ENST00000221498	ensembl	human	known	70_37	missense	SNP	0.011	A	A	49869116	G	A	49869116	3	1	34	1	0	0	0	0	1	0	0	0	4558	1175	41	1	405	1	DKKL1	19	49869116	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2977427	49869116	9259867	389	4856										
ETFB	2109	genome.wustl.edu	37	chr19	51857782	51857782	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcatccagccattcctgggtAccagggacatctgacttgat	9	12	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:51857782A>G	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Silent_p.G37G|CTD-2616J11.11_ENST00000600067.1_Intron	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ATTCCTGGGTACCAGGGACAT	0.512																																																	0													90	85	87					19																	51857782		2203	4300	6503	SO:0001627	intron_variant	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-220T>C	19.37:g.51857782A>G			A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.G37	ENST00000309244.4	37	c.111	CCDS12828.1	19																																																																																			ETFB	-	NULL		0.512	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	A			51857782	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	silent	SNP	0.035	G	G	51857782	A	G	51857782	1	3	34	0	1	0	0	0	0	0	0	0	5282	378	14	5		5	ETFB	19	51857782	Intron	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	1988666	51857782	7271201	390	4857										
ZNF28	7576	genome.wustl.edu	37	chr19	53304200	53304200	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tttgtcacattcttcacattCataaggtttgtctgcagtat	6	8	5	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:53304200C>T	ENST00000457749.2	-	4	1017	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	ZNF28_ENST00000360272.4_Missense_Mutation_p.E247K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E247K|ZNF28_ENST00000438150.2_Missense_Mutation_p.E247K	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTTCACATTCATAAGGTTTG	0.383																																																	0													143	138	140					19																	53304200		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.898G>A	19.37:g.53304200C>T	ENSP00000397693:p.Glu300Lys		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E300K	ENST00000457749.2	37	c.898	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	0.014	-1.574866	0.00887	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	1.2	-1.68	0.08212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44651	-0.9314	9	0.02654	T	1	.	2.6492	0.04994	0.2158:0.3368:0.0:0.4474	.	300	P17035	ZNF28_HUMAN	K	247;300;247;247;247	ENSP00000412143:E247K;ENSP00000397693:E300K;ENSP00000353410:E247K;ENSP00000444965:E247K;ENSP00000375661:E247K	ENSP00000353410:E247K	E	-	1	0	ZNF28	57996012	0.000000	0.05858	0.037000	0.18230	0.077000	0.17291	-3.596000	0.00420	-0.385000	0.07833	0.186000	0.17326	GAA	ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	C	NM_006969		53304200	-1	no_errors	ENST00000457749	ensembl	human	known	70_37	missense	SNP	0.019	T	T	53304200	C	T	53304200	3	4	34	1	0	0	0	0	1	0	0	0	17843	835	29	1	1262	1	ZNF28	19	53304200	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1446418	53304200	5824783	391	4858										
LILRA1	11024	genome.wustl.edu	37	chr19	55107366	55107366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aacctctcctccgagtggtcGgcccccagcgaccccctgga	10	19	1	0	rs140515098	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:55107366G>A	ENST00000251372.3	+	6	1106	c.924G>A	c.(922-924)tcG>tcA	p.S308S	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	308	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCGAGTGGTCGGCCCCCAGCG	0.682																																																	0								G		2,4398		0,2,2198	27	40	36		924	-1.9	0	19	dbSNP_134	36	7,8591		0,7,4292	no	coding-synonymous	LILRA1	NM_006863.1		0,9,6490	AA,AG,GG		0.0814,0.0455,0.0692		308/490	55107366	9,12989	2200	4299	6499	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.924G>A	19.37:g.55107366G>A			O75018|Q3MJA6	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.S308	ENST00000251372.3	37	c.924	CCDS12901.1	19																																																																																			LILRA1	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	G	NM_006863		55107366	1	no_errors	ENST00000251372	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55107366	G	A	55107366	2	1	34	1	0	0	0	0	0	0	0	1	8804	1103	39	2		2	LILRA1	19	55107366	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1803166	55107366	4021617	392	4859										
NLRP2	55655	genome.wustl.edu	37	chr19	55494519	55494519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccgacctccgtctgttcctgGacggagacatcctccgccag	10	17	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:55494519G>T	ENST00000543010.1	+	6	1596	c.1453G>T	c.(1453-1455)Gac>Tac	p.D485Y	NLRP2_ENST00000263437.6_Missense_Mutation_p.D482Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.D462Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.D461Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.D461Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.D485Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.D463Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.D463Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	485	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCTGTTCCTGGACGGAGACAT	0.622																																																	0													36	36	36					19																	55494519		2203	4298	6501	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1453G>T	19.37:g.55494519G>T	ENSP00000445135:p.Asp485Tyr		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D485Y	ENST00000543010.1	37	c.1453	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579511	0.28180	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74632	-0.81;-0.76;-0.76;-0.81;-0.76;-0.86;-0.76;-0.81	1.9	-0.292	0.12839	.	0.755055	0.10898	N	0.621923	T	0.76744	0.4030	M	0.80982	2.52	0.09310	N	1	P;P;P;P;P	0.39601	0.564;0.68;0.552;0.68;0.552	B;P;B;P;B	0.47470	0.271;0.548;0.346;0.548;0.346	T	0.66693	-0.5859	10	0.52906	T	0.07	.	4.2054	0.10486	0.3763:0.0:0.6237:0.0	.	462;463;482;461;485	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Y	485;461;463;485;463;462;461;482	ENSP00000445135:D485Y;ENSP00000375601:D461Y;ENSP00000344074:D463Y;ENSP00000409370:D485Y;ENSP00000440601:D463Y;ENSP00000402474:D462Y;ENSP00000441133:D461Y;ENSP00000263437:D482Y	ENSP00000263437:D482Y	D	+	1	0	NLRP2	60186331	0.033000	0.19621	0.040000	0.18447	0.054000	0.15201	0.486000	0.22340	0.004000	0.14682	0.556000	0.70494	GAC	NLRP2	-	NULL		0.622	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	G	NM_017852		55494519	1	no_errors	ENST00000448584	ensembl	human	known	70_37	missense	SNP	0.004	T	T	55494519	G	T	55494519	3	4	34	1	0	0	0	0	1	0	0	0	10501	1174	41	3	1471	3	NLRP2	19	55494519	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	387153	55494519	3634464	393	4860										
HSPBP1	23640	genome.wustl.edu	37	chr19	55790870	55790870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgggggccgggaattgcccGagcccccagccgaggagccg	18	14	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:55790870G>A	ENST00000255631.5	-	3	417	c.107C>T	c.(106-108)tCg>tTg	p.S36L	HSPBP1_ENST00000587922.1_Missense_Mutation_p.S36L|HSPBP1_ENST00000433386.2_Missense_Mutation_p.S36L|BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000376343.3_Missense_Mutation_p.S36L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	36	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGAATTGCCCGAGCCCCCAGC	0.711																																																	0													12	16	15					19																	55790870		2183	4267	6450	SO:0001583	missense	23640				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.107C>T	19.37:g.55790870G>A	ENSP00000255631:p.Ser36Leu		B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S36L	ENST00000255631.5	37	c.107	CCDS33111.1	19	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785285	0.31593	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T	0.77750	-1.12;-1.12	3.93	2.9	0.33743	.	0.936163	0.08879	N	0.880389	T	0.65595	0.2706	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.22003	0.026;0.063;0.063;0.026	B;B;B;B	0.13407	0.005;0.009;0.009;0.009	T	0.51004	-0.8760	10	0.30078	T	0.28	.	4.5445	0.12074	0.1101:0.0:0.5411:0.3488	.	36;39;39;82	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	L	36	ENSP00000398244:S36L;ENSP00000255631:S36L	ENSP00000255631:S36L	S	-	2	0	HSPBP1	60482682	1.000000	0.71417	0.069000	0.20011	0.138000	0.21146	2.748000	0.47483	2.197000	0.70478	0.491000	0.48974	TCG	HSPBP1	-	NULL		0.711	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1	G	NM_012267		55790870	-1	no_errors	ENST00000255631	ensembl	human	known	70_37	missense	SNP	0.102	A	A	55790870	G	A	55790870	3	1	34	1	0	0	0	0	1	0	0	0	7446	1059	37	1	1000	1	HSPBP1	19	55790870	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	296351	55790870	3338113	394	4861										
CCDC106	29903	genome.wustl.edu	37	chr19	56160930	56160930	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccagctggacaaattcatctCttctgctcggatggaggcag	11	11	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:56160930C>T	ENST00000586790.1	+	3	1197	c.293C>T	c.(292-294)tCt>tTt	p.S98F	CCDC106_ENST00000591241.1_Missense_Mutation_p.S63F|CCDC106_ENST00000588740.1_Missense_Mutation_p.S98F|CCDC106_ENST00000591578.1_Missense_Mutation_p.S98F|CCDC106_ENST00000308964.3_Missense_Mutation_p.S98F			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	98						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAATTCATCTCTTCTGCTCGG	0.602																																																	0													63	60	61					19																	56160930		2203	4300	6503	SO:0001583	missense	29903			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.293C>T	19.37:g.56160930C>T	ENSP00000465757:p.Ser98Phe		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.S98F	ENST00000586790.1	37	c.293	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	C	10.00	1.233354	0.22626	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.063516	0.64402	D	0.000004	T	0.30759	0.0775	N	0.05078	-0.115	0.40651	D	0.98203	B	0.27229	0.172	B	0.24394	0.053	T	0.22103	-1.0226	9	0.37606	T	0.19	-33.111	14.0108	0.64495	0.0:1.0:0.0:0.0	.	98	Q9BWC9	CC106_HUMAN	F	98	.	ENSP00000309681:S98F	S	+	2	0	CCDC106	60852742	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.375000	0.59549	1.910000	0.55303	0.462000	0.41574	TCT	CCDC106	-	NULL		0.602	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	C	NM_013301		56160930	1	no_errors	ENST00000308964	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56160930	C	T	56160930	3	4	34	1	0	0	0	0	1	0	0	0	2746	913	32	1	303	1	CCDC106	19	56160930	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	370060	56160930	2968053	395	4862										
ZNF470	388566	genome.wustl.edu	37	chr19	57085838	57085838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggctgaatcttgctcagagaAgtttgtacaagaaggtgatg	13	5	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:57085838A>C	ENST00000330619.8	+	4	822	c.136A>C	c.(136-138)Agt>Cgt	p.S46R	ZNF470_ENST00000391709.3_Missense_Mutation_p.S46R|ZNF470_ENST00000601902.1_Missense_Mutation_p.S46R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCTCAGAGAAGTTTGTACAA	0.418																																																	0													199	175	183					19																	57085838		2203	4300	6503	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.136A>C	19.37:g.57085838A>C	ENSP00000333223:p.Ser46Arg		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S46R	ENST00000330619.8	37	c.136	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951836	0.34471	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.01787	4.64;4.64	3.28	2.26	0.28386	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.38531	1.155	0.23528	N	0.997483	B	0.22909	0.077	B	0.25291	0.059	T	0.46665	-0.9175	9	0.25751	T	0.34	.	4.0198	0.09660	0.7336:0.0:0.2664:0.0	.	46	Q6ECI4	ZN470_HUMAN	R	46	ENSP00000375590:S46R;ENSP00000333223:S46R	ENSP00000333223:S46R	S	+	1	0	ZNF470	61777650	0.004000	0.15560	0.994000	0.49952	0.997000	0.91878	0.645000	0.24782	1.496000	0.48567	0.533000	0.62120	AGT	ZNF470	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	A	NM_001001668		57085838	1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.945	C	C	57085838	A	C	57085838	3	2	34	1	0	0	0	0	1	0	0	0	17959	72	3	5	142	5	ZNF470	19	57085838	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09	924908	57085838	2043145	396	4863										
ZNF154	7710	genome.wustl.edu	37	chr19	58214145	58214145	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttctccaaggtgctgcttctGatgatgaacatctgcaatga	9	9	3	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:58214145G>A	ENST00000512439.2	-	3	368	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Nonsense_Mutation_p.Q58*			Q13106	ZN154_HUMAN	zinc finger protein 154	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGCTTCTGATGATGAACA	0.468																																																	0													40	38	38					19																	58214145		1905	4134	6039	SO:0001587	stop_gained	7710			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"Zinc fingers, C2H2-type", "-"	12939	protein-coding gene	gene with protein product		604085	"zinc finger protein 154 (pHZ-92)"			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.172C>T	19.37:g.58214145G>A	ENSP00000421258:p.Gln58*		A7MCY3|Q8IVG7|Q8NAR0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q58*	ENST00000512439.2	37	c.172	CCDS42639.1	19	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832787	0.71258	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	.	.	.	3.17	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.0538	0.25087	0.1988:0.0:0.8012:0.0	.	.	.	.	X	58	.	ENSP00000442370:Q58X	Q	-	1	0	ZNF154	62905957	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	0.470000	0.22084	0.605000	0.29947	0.555000	0.69702	CAG	ZNF154	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF154	HGNC	protein_coding	OTTHUMT00000277102.2	G			58214145	-1	no_errors	ENST00000426889	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	58214145	G	A	58214145	4	1	34	1	0	0	0	0	0	1	0	0	17765	1299	45	1	1145	1	ZNF154	19	58214145	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1128307	58214145	914838	397	4864										
ZNF324	25799	genome.wustl.edu	37	chr19	58982703	58982703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acctacgcacccacaccgggGagcggccctacgagtgcgcc	12	18	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:58982703G>A	ENST00000536459.2	+	4	1553	c.844G>A	c.(844-846)Gag>Aag	p.E282K	ZNF324_ENST00000535298.1_Missense_Mutation_p.E59K|ZNF324_ENST00000196482.3_Missense_Mutation_p.E282K|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCACACCGGGGAGCGGCCCTA	0.652																																																	0													48	42	44					19																	58982703		2201	4299	6500	SO:0001583	missense	25799			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.844G>A	19.37:g.58982703G>A	ENSP00000444812:p.Glu282Lys		B3KRX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E282K	ENST00000536459.2	37	c.844	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811383	0.90707	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.24350	1.86;1.86;1.86	4.38	4.38	0.52667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000702	T	0.32285	0.0824	N	0.12746	0.255	0.46279	D	0.998969	D	0.71674	0.998	D	0.73708	0.981	T	0.31971	-0.9924	10	0.59425	D	0.04	.	15.241	0.73471	0.0:0.0:1.0:0.0	.	282	O75467	Z324A_HUMAN	K	282;282;272;59	ENSP00000196482:E282K;ENSP00000444812:E282K;ENSP00000439588:E59K	ENSP00000196482:E282K	E	+	1	0	ZNF324	63674515	0.995000	0.38212	0.994000	0.49952	0.978000	0.69477	4.684000	0.61686	2.365000	0.80145	0.455000	0.32223	GAG	ZNF324	-	pfscan_Znf_C2H2		0.652	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	G	NM_014347		58982703	1	no_errors	ENST00000196482	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58982703	G	A	58982703	3	1	34	1	0	0	0	0	1	0	0	0	17874	1175	41	1	854	1	ZNF324	19	58982703	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	768558	58982703	146280	398	4865										
TGM3	7053	genome.wustl.edu	37	chr20	2315844	2315844	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	atgatccggatcacagcggtGtgcaaggtcccagatgagtc	13	10	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:2315844G>C	ENST00000381458.5	+	11	1788	c.1725G>C	c.(1723-1725)gtG>gtC	p.V575V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	575					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCACAGCGGTGTGCAAGGTCC	0.557																																																	0													174	137	149					20																	2315844		2203	4300	6503	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1725G>C	20.37:g.2315844G>C			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V575	ENST00000381458.5	37	c.1725	CCDS33435.1	20																																																																																			TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.557	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2315844	1	no_errors	ENST00000381458	ensembl	human	known	70_37	silent	SNP	0.965	C	C	2315844	G	C	2315844	2	2	34	1	0	0	0	0	0	0	0	1	15861	1364	48	4		4	TGM3	20	2315844	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		2315844	60709676	399	4866										
SIGLEC1	6614	genome.wustl.edu	37	chr20	3682139	3682139	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	actgaagcgtgggctgtgatCactgtccccggaggtggagg	17	9	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:3682139C>A	ENST00000344754.4	-	6	1377	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D460Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	460	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGCTGTGATCACTGTCCCCG	0.602																																																	0													103	78	87					20																	3682139		2203	4300	6503	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1378G>T	20.37:g.3682139C>A	ENSP00000341141:p.Asp460Tyr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D460Y	ENST00000344754.4	37	c.1378	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	7.903	0.734917	0.15574	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.24908	1.85;1.83	5.39	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.331079	0.21986	N	0.066223	T	0.42314	0.1197	M	0.67953	2.075	0.09310	N	1	D;D	0.58970	0.984;0.98	D;P	0.65323	0.934;0.844	T	0.32107	-0.9919	10	0.11182	T	0.66	.	12.4964	0.55931	0.0:0.9178:0.0:0.0822	.	460;460	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	Y	460	ENSP00000341141:D460Y;ENSP00000202578:D460Y	ENSP00000202578:D460Y	D	-	1	0	SIGLEC1	3630139	0.000000	0.05858	0.008000	0.14137	0.093000	0.18481	0.168000	0.16622	1.400000	0.46741	0.655000	0.94253	GAT	SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3682139	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	missense	SNP	0.018	A	A	3682139	C	A	3682139	3	1	34	1	0	0	0	0	1	0	0	0	14335	826	29	3	3815	3	SIGLEC1	20	3682139	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1366295	3682139	59343381	400	4867										
KIF16B	55614	genome.wustl.edu	37	chr20	16360067	16360067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tcacattttaaacactctagGatctcctgttcttcttggac	5	11	5	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:16360067G>A	ENST00000354981.2	-	19	2737	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	KIF16B_ENST00000408042.1_Silent_p.I860I|KIF16B_ENST00000378003.2_Silent_p.I86I|KIF16B_ENST00000355755.3_Silent_p.I860I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	860	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AACACTCTAGGATCTCCTGTT	0.408																																																	0													149	145	146					20																	16360067		2203	4300	6503	SO:0001819	synonymous_variant	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2580C>T	20.37:g.16360067G>A			A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I860	ENST00000354981.2	37	c.2580	CCDS13122.1	20																																																																																			KIF16B	-	NULL		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	G	NM_017683		16360067	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	silent	SNP	0.106	A	A	16360067	G	A	16360067	2	1	34	1	0	0	0	0	0	0	0	1	8298	1164	41	1		1	KIF16B	20	16360067	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	12677928	16360067	46665453	401	4868										
TPX2	22974	genome.wustl.edu	37	chr20	30385276	30385276	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtccaaacaccgtcatctctCaggagccctttgttcccaag	7	15	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:30385276C>T	ENST00000300403.6	+	16	2431	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.Q671*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	635					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.Q635E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGTCATCTCTCAGGAGCCCTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											170	175	173					20																	30385276		2203	4300	6503	SO:0001587	stop_gained	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1903C>T	20.37:g.30385276C>T	ENSP00000300403:p.Gln635*		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.Q671*	ENST00000300403.6	37	c.2011	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.027826	0.99320	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.93	5.93	0.95920	.	0.056612	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.0415	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	X	635;671	.	ENSP00000300403:Q635X	Q	+	1	0	TPX2	29848937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.814000	0.96858	0.655000	0.94253	CAG	TPX2	-	NULL		0.458	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	C			30385276	1	no_errors	ENST00000340513	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	30385276	C	T	30385276	4	4	34	1	0	0	0	0	0	1	0	0	16463	827	29	1	1957	1	TPX2	20	30385276	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	14025209	30385276	32640244	402	4869										
ASXL1	171023	genome.wustl.edu	37	chr20	31021697	31021697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agccacagcccactaaagagGagcccaaagtcccgcccatc	8	17	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:31021697G>A	ENST00000375687.4	+	12	2120	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E561K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	566	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CACTAAAGAGGAGCCCAAAGT	0.507			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													54	60	58					20																	31021697		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1696G>A	20.37:g.31021697G>A	ENSP00000364839:p.Glu566Lys		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.E566K	ENST00000375687.4	37	c.1696	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647223	0.87958	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.63580	-0.05;-0.05	5.02	5.02	0.67125	.	0.050239	0.85682	D	0.000000	T	0.74596	0.3737	M	0.72894	2.215	0.54753	D	0.999989	D;P	0.62365	0.991;0.924	P;P	0.57101	0.813;0.696	T	0.73313	-0.4022	10	0.37606	T	0.19	-10.7937	18.905	0.92456	0.0:0.0:1.0:0.0	.	561;566	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	566;566;566;505;561	ENSP00000364839:E566K;ENSP00000305119:E561K	ENSP00000305119:E561K	E	+	1	0	ASXL1	30485358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.350000	0.79385	2.780000	0.95670	0.655000	0.94253	GAG	ASXL1	-	NULL		0.507	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	G	NM_015338		31021697	1	no_errors	ENST00000375687	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31021697	G	A	31021697	3	1	34	1	0	0	0	0	1	0	0	0	1067	1175	41	1	1748	1	ASXL1	20	31021697	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	636421	31021697	32003823	403	4870										
ZHX3	23051	genome.wustl.edu	37	chr20	39832880	39832880	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgaaggaatggtccccctctCtcacctccatttctccagtc	6	16	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:39832880C>T	ENST00000309060.3	-	4	1092	c.677G>A	c.(676-678)aGa>aAa	p.R226K	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R226K|ZHX3_ENST00000544979.2_Missense_Mutation_p.R226K|ZHX3_ENST00000559234.1_Missense_Mutation_p.R226K|ZHX3_ENST00000560361.1_Missense_Mutation_p.R226K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R226K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	226					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GTCCCCCTCTCTCACCTCCAT	0.537																																																	0													131	119	123					20																	39832880		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.677G>A	20.37:g.39832880C>T	ENSP00000312222:p.Arg226Lys		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.R226K	ENST00000309060.3	37	c.677	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	3.097	-0.185588	0.06340	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.27256	1.68;3.09;3.09;2.87;1.68	6.07	4.97	0.65823	.	0.187320	0.56097	N	0.000033	T	0.04861	0.0131	N	0.00104	-2.125	0.26193	N	0.979566	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32877	-0.9890	10	0.02654	T	1	-14.4692	11.5152	0.50518	0.0:0.0707:0.0:0.9293	.	226;226;226	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	K	226;226;226;226;4;226	ENSP00000312222:R226K;ENSP00000362360:R226K;ENSP00000442290:R226K;ENSP00000443783:R226K;ENSP00000415498:R226K	ENSP00000312222:R226K	R	-	2	0	ZHX3	39266294	1.000000	0.71417	0.983000	0.44433	0.115000	0.19883	4.592000	0.61027	1.126000	0.42016	-0.302000	0.09304	AGA	ZHX3	-	NULL		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39832880	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	0.997	T	T	39832880	C	T	39832880	3	4	34	1	0	0	0	0	1	0	0	0	17707	913	32	1	2201	1	ZHX3	20	39832880	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	8811183	39832880	23192640	404	4871										
PTPRT	11122	genome.wustl.edu	37	chr20	40944408	40944408	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aagtagatgctgtagcttttCaggggagagagaggagggtt	17	3	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:40944408C>T	ENST00000373187.1	-	12	2093	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L	PTPRT_ENST00000373184.1_Silent_p.L698L|PTPRT_ENST00000373201.1_Silent_p.L698L|PTPRT_ENST00000356100.2_Silent_p.L698L|PTPRT_ENST00000373193.3_Silent_p.L698L|PTPRT_ENST00000373198.4_Silent_p.L698L|PTPRT_ENST00000373190.1_Silent_p.L698L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	698	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTAGCTTTTCAGGGGAGAGA	0.493																																																	0													89	87	88					20																	40944408		1946	4144	6090	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2094G>A	20.37:g.40944408C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L698	ENST00000373187.1	37	c.2094	CCDS42874.1	20																																																																																			PTPRT	-	NULL		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40944408	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.863	T	T	40944408	C	T	40944408	2	4	34	1	0	0	0	0	0	0	0	1	12842	813	29	1		1	PTPRT	20	40944408	Silent	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1111528	40944408	22081112	405	4872										
STK4	6789	genome.wustl.edu	37	chr20	43629817	43629817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tccttttacaggaagaggatGaaatggattctggcacgatg	12	6	1	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:43629817G>A	ENST00000372806.3	+	9	1065	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	STK4_ENST00000372801.1_Missense_Mutation_p.E324K|STK4_ENST00000499879.2_Missense_Mutation_p.E269K|STK4_ENST00000396731.4_Missense_Mutation_p.E324K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	324					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GGAAGAGGATGAAATGGATTC	0.418																																					GBM(187;1039 2137 11798 21916 33213)												0													90	79	83					20																	43629817		2203	4300	6503	SO:0001583	missense	6789				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.970G>A	20.37:g.43629817G>A	ENSP00000361892:p.Glu324Lys		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E324K	ENST00000372806.3	37	c.970	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753814	0.89753	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.72615	-0.65;-0.67;-0.67;0.33	5.99	5.04	0.67666	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.74881	2.28	0.58432	D	0.99999	B;P;B	0.36048	0.382;0.534;0.167	B;B;B	0.38985	0.287;0.211;0.15	T	0.72408	-0.4303	10	0.39692	T	0.17	.	14.6556	0.68831	0.0689:0.0:0.9311:0.0	.	269;324;324	F5H5B4;Q13043-2;Q13043	.;.;STK4_HUMAN	K	324;324;324;269	ENSP00000361892:E324K;ENSP00000379957:E324K;ENSP00000361887:E324K;ENSP00000443514:E269K	ENSP00000361887:E324K	E	+	1	0	STK4	43063231	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	7.651000	0.83577	2.840000	0.97914	0.655000	0.94253	GAA	STK4	-	superfamily_Kinase-like_dom		0.418	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	G	NM_006282		43629817	1	no_errors	ENST00000372806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43629817	G	A	43629817	3	1	34	1	0	0	0	0	1	0	0	0	15336	1291	45	1	1004	1	STK4	20	43629817	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2685409	43629817	19395703	406	4873										
PREX1	57580	genome.wustl.edu	37	chr20	47305245	47305245	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agctttctccggcggtccttGatgaggttcaccttcttgtt	10	11	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:47305245G>C	ENST00000371941.3	-	10	1306	c.1284C>G	c.(1282-1284)atC>atG	p.I428M	PREX1_ENST00000396220.1_Missense_Mutation_p.I428M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	428	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCGGTCCTTGATGAGGTTCA	0.557																																																	0													184	129	148					20																	47305245		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1284C>G	20.37:g.47305245G>C	ENSP00000361009:p.Ile428Met		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I428M	ENST00000371941.3	37	c.1284	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275619	0.59649	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.20200	2.09;2.09	5.29	4.34	0.51931	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000035	T	0.46425	0.1392	M	0.76574	2.34	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	T	0.50541	-0.8816	10	0.87932	D	0	.	13.8939	0.63757	0.0735:0.0:0.9265:0.0	.	428	Q8TCU6	PREX1_HUMAN	M	428	ENSP00000361009:I428M;ENSP00000379522:I428M	ENSP00000361009:I428M	I	-	3	3	PREX1	46738652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.580000	0.46068	1.222000	0.43521	0.563000	0.77884	ATC	PREX1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47305245	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47305245	G	C	47305245	3	2	34	1	0	0	0	0	1	0	0	0	12503	1280	45	1	3819	1	PREX1	20	47305245	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	3675428	47305245	15720275	407	4874										
CSE1L	1434	genome.wustl.edu	37	chr20	47707558	47707558	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaaacaaccaagtttatcaaGagtaagtaaaatcatctgga	6	6	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:47707558G>A	ENST00000262982.2	+	21	2487	c.2364G>A	c.(2362-2364)aaG>aaA	p.K788K	CSE1L_ENST00000542325.1_Splice_Site_p.K571K|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Splice_Site_p.K732K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	788					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGTTTATCAAGAGTAAGTAAA	0.308																																																	0													41	44	43					20																	47707558		2203	4296	6499	SO:0001630	splice_region_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2365+1G>A	20.37:g.47707558G>A			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K788	ENST00000262982.2	37	c.2364	CCDS13412.1	20																																																																																			CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold		0.308	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316	Silent	47707558	1	no_errors	ENST00000262982	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47707558	G	A	47707558	5	1	34	1	0	0	0	0	0	0	1	0	3935	956	33	1	2442	1	CSE1L	20	47707558	Splice_Site	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	402313	47707558	15317962	408	4875										
NTSR1	4923	genome.wustl.edu	37	chr20	61391560	61391560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagccttctcgaggaaggccGacagcgtgtccagcaaccac	11	15	1	0	rs370016377		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:61391560G>A	ENST00000370501.3	+	4	1569	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	400					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GAGGAAGGCCGACAGCGTGTC	0.662																																					GBM(37;400 780 6403 19663 35669)												0								A	ASN/ASP	0,4406		0,0,2203	109	87	95		1198	4.7	0.7	20		95	1,8599	818.8+/-406.8	0,1,4299	no	missense	NTSR1	NM_002531.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	400/419	61391560	1,13005	2203	4300	6503	SO:0001583	missense	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1198G>A	20.37:g.61391560G>A	ENSP00000359532:p.Asp400Asn		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor	p.D400N	ENST00000370501.3	37	c.1198	CCDS13502.1	20	.	.	.	.	.	.	.	.	.	.	A	0.595	-0.831222	0.02713	0.0	1.16E-4	ENSG00000101188	ENST00000370501	T	0.37235	1.21	4.71	4.71	0.59529	.	0.267486	0.36002	N	0.002844	T	0.16257	0.0391	N	0.08118	0	0.22050	N	0.999399	B	0.02656	0.0	B	0.01281	0.0	T	0.29488	-1.0010	10	0.07990	T	0.79	-18.8527	9.0733	0.36506	0.915:0.0:0.085:0.0	.	400	P30989	NTR1_HUMAN	N	400	ENSP00000359532:D400N	ENSP00000359532:D400N	D	+	1	0	NTSR1	60862005	1.000000	0.71417	0.737000	0.30932	0.020000	0.10135	2.971000	0.49248	0.653000	0.30826	-0.260000	0.10688	GAC	NTSR1	-	prints_NT1_rcpt		0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1	G			61391560	1	no_errors	ENST00000370501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61391560	G	A	61391560	3	1	34	1	0	0	0	0	1	0	0	0	10734	1058	37	1	1212	1	NTSR1	20	61391560	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	13684002	61391560	1633960	409	4876										
COL9A3	1299	genome.wustl.edu	37	chr20	61467602	61467602	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccaacggcaccagcggtgttCagggtgtccccgggcccccc	13	18	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:61467602C>T	ENST00000343916.3	+	28	1468	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	489	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGCGGTGTTCAGGGTGTCCC	0.697																																																	0													26	34	31					20																	61467602		2203	4299	6502	SO:0001587	stop_gained	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1465C>T	20.37:g.61467602C>T	ENSP00000341640:p.Gln489*		Q13681|Q9H4G9|Q9UPE2	Nonsense_Mutation	SNP	pfam_Collagen	p.Q489*	ENST00000343916.3	37	c.1465	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508177	0.44660	.	.	ENSG00000092758	ENST00000343916	.	.	.	4.63	2.66	0.31614	.	0.443877	0.23995	N	0.042525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.0886	0.64975	0.0:0.6394:0.3606:0.0	.	.	.	.	X	489	.	ENSP00000341640:Q489X	Q	+	1	0	COL9A3	60938047	0.091000	0.21658	0.041000	0.18516	0.047000	0.14425	1.159000	0.31749	0.380000	0.24823	-0.264000	0.10439	CAG	COL9A3	-	pfam_Collagen		0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61467602	1	no_errors	ENST00000343916	ensembl	human	known	70_37	nonsense	SNP	0.409	T	T	61467602	C	T	61467602	4	4	34	1	0	0	0	0	0	1	0	0	3714	827	29	1	1575	1	COL9A3	20	61467602	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	76042	61467602	1557918	410	4877										
CBR3	874	genome.wustl.edu	37	chr21	37507541	37507541	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	accggggccaacaggggcatCggcttggccatcgcgcgcga	16	14	0	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:37507541C>G	ENST00000290354.5	+	1	332	c.51C>G	c.(49-51)atC>atG	p.I17M	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	17					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	ACAGGGGCATCGGCTTGGCCA	0.741																																																	0													10	9	9					21																	37507541		2078	4060	6138	SO:0001583	missense	874			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.51C>G	21.37:g.37507541C>G	ENSP00000290354:p.Ile17Met		Q6FHP2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I17M	ENST00000290354.5	37	c.51	CCDS13642.1	21	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840246	0.71488	.	.	ENSG00000159231	ENST00000290354	D	0.91180	-2.8	5.32	3.5	0.40072	NAD(P)-binding domain (1);	0.052155	0.85682	D	0.000000	D	0.93232	0.7844	M	0.74389	2.26	0.80722	D	1	D	0.56746	0.977	D	0.70227	0.968	D	0.91712	0.5382	10	0.87932	D	0	-13.0006	5.314	0.15845	0.1622:0.6383:0.0:0.1994	.	17	O75828	CBR3_HUMAN	M	17	ENSP00000290354:I17M	ENSP00000290354:I17M	I	+	3	3	CBR3	36429411	0.614000	0.27017	1.000000	0.80357	0.962000	0.63368	-0.210000	0.09345	0.803000	0.34113	0.655000	0.94253	ATC	CBR3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.741	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3	HGNC	protein_coding	OTTHUMT00000194632.1	C			37507541	1	no_errors	ENST00000290354	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37507541	C	G	37507541	3	3	34	1	0	0	0	0	1	0	0	0	2714	874	31	1	53	1	CBR3	21	37507541	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09		37507541	10622354	411	4878										
PKNOX1	5316	genome.wustl.edu	37	chr21	44448897	44448897	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aaacaaagaaaaaaactgctCagaaccggccagttcagagg	9	9	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:44448897C>T	ENST00000291547.5	+	10	1223	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.Q221*|PKNOX1_ENST00000607150.1_3'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	338					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AAAAACTGCTCAGAACCGGCC	0.502																																																	0													107	119	115					21																	44448897		2203	4300	6503	SO:0001587	stop_gained	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1012C>T	21.37:g.44448897C>T	ENSP00000291547:p.Gln338*		O00528|Q8IWT7	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q338*	ENST00000291547.5	37	c.1012	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.259895	0.95368	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	.	.	.	5.39	5.39	0.77823	.	0.171230	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-32.1223	19.5223	0.95190	0.0:1.0:0.0:0.0	.	.	.	.	X	338;221	.	ENSP00000291547:Q338X	Q	+	1	0	PKNOX1	43321966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.992000	0.76238	2.691000	0.91804	0.655000	0.94253	CAG	PKNOX1	-	NULL		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	C			44448897	1	no_errors	ENST00000291547	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	44448897	C	T	44448897	4	4	34	1	0	0	0	0	0	1	0	0	12006	827	29	1	1046	1	PKNOX1	21	44448897	Nonsense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	6941356	44448897	3680998	412	4879										
COL18A1	80781	genome.wustl.edu	37	chr21	46897681	46897681	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cagggcggcctgaaggggcaGaaaggggagccaggtgttcc	19	9	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:46897681G>A	ENST00000359759.4	+	7	2289	c.2268G>A	c.(2266-2268)caG>caA	p.Q756Q	COL18A1_ENST00000400337.2_Silent_p.Q341Q|COL18A1_ENST00000355480.5_Silent_p.Q521Q			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	756	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGGGGCAGAAAGGGGAGC	0.711																																																	0													6	7	7					21																	46897681		1726	3825	5551	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2268G>A	21.37:g.46897681G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.Q756	ENST00000359759.4	37	c.2268		21																																																																																			COL18A1	-	NULL		0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46897681	1	no_errors	ENST00000359759	ensembl	human	known	70_37	silent	SNP	0.936	A	A	46897681	G	A	46897681	2	1	34	1	0	0	0	0	0	0	0	1	3680	933	33	1		1	COL18A1	21	46897681	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2448784	46897681	1232214	413	4880										
CECR2	27443	genome.wustl.edu	37	chr22	18022482	18022482	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	actccatgatggacagcccaGagatgattgcgatgcagcag	12	10	0	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:18022482G>C	ENST00000400585.2	+	16	2599	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q	CECR2_ENST00000400573.5_Missense_Mutation_p.E862Q|CECR2_ENST00000262608.8_Missense_Mutation_p.E863Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	904					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGACAGCCCAGAGATGATTGC	0.632																																																	0													59	67	64					22																	18022482		2051	4187	6238	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2161G>C	22.37:g.18022482G>C	ENSP00000383428:p.Glu721Gln		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E862Q	ENST00000400585.2	37	c.2584		22	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565075	0.86439	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.45276	0.99;0.98;0.9	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000049	T	0.65302	0.2678	M	0.69823	2.125	0.53688	D	0.999972	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.994	T	0.67106	-0.5754	10	0.59425	D	0.04	-28.949	18.7183	0.91684	0.0:0.0:1.0:0.0	.	904;721;862	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Q	721;862;863	ENSP00000383428:E721Q;ENSP00000383417:E862Q;ENSP00000262608:E863Q	ENSP00000262608:E863Q	E	+	1	0	CECR2	16402482	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	8.757000	0.91657	2.654000	0.90174	0.561000	0.74099	GAG	CECR2	-	NULL		0.632	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18022482	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	18022482	G	C	18022482	3	2	34	1	0	0	0	0	1	0	0	0	3211	943	33	1	2644	1	CECR2	22	18022482	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09		18022482	33282084	414	4881										
CLTCL1	8218	genome.wustl.edu	37	chr22	19168280	19168280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggctctgtcacatgctcctCttgcttgcgcagactctcca	8	15	4	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:19168280C>T	ENST00000263200.10	-	31	4939	c.4867G>A	c.(4867-4869)Gag>Aag	p.E1623K	SLC25A1_ENST00000451283.1_5'Flank|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1566K|SLC25A1_ENST00000461267.1_5'Flank|SLC25A1_ENST00000215882.5_5'Flank|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1623K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1623	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.			RKQEEHVTEPAPLVFDFDGHE -> PPSKRSM (in Ref. 3; AAB40908/AAB40909). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATGCTCCTCTTGCTTGCGC	0.607			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													86	93	91					22																	19168280		2132	4251	6383	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4867G>A	22.37:g.19168280C>T	ENSP00000445677:p.Glu1623Lys		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E1623K	ENST00000263200.10	37	c.4867	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	8.273	0.813899	0.16537	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.31769	1.48;1.48;1.48	4.69	1.49	0.22878	.	0.224775	0.36002	N	0.002851	T	0.22399	0.0540	L	0.39692	1.235	0.44439	D	0.997369	B;B;B	0.19331	0.009;0.003;0.035	B;B;B	0.30943	0.037;0.003;0.122	T	0.06110	-1.0845	10	0.09084	T	0.74	-2.4268	9.4872	0.38937	0.0:0.7665:0.0:0.2335	.	1566;352;1623	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	K	1566;1623;1623	ENSP00000439662:E1566K;ENSP00000445677:E1623K;ENSP00000441158:E1623K	ENSP00000445677:E1623K	E	-	1	0	CLTCL1	17548280	0.996000	0.38824	0.000000	0.03702	0.001000	0.01503	3.653000	0.54446	0.232000	0.21100	-0.140000	0.14226	GAG	CLTCL1	-	pirsf_Clathrin_heavy_chain		0.607	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19168280	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	0.914	T	T	19168280	C	T	19168280	3	4	34	1	0	0	0	0	1	0	0	0	3572	922	32	1	63	1	CLTCL1	22	19168280	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1145798	19168280	32136286	415	4882										
UFD1L	7353	genome.wustl.edu	37	chr22	19463100	19463100	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tttggaagaccctgggaataGggtggtcgaacatgttgaaa	14	5	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:19463100G>C	ENST00000263202.10	-	2	158	c.29C>G	c.(28-30)cCt>cGt	p.P10R	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.P10R|UFD1L_ENST00000360834.4_Missense_Mutation_p.P10R	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	10					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CCTGGGAATAGGGTGGTCGAA	0.448																																																	0													129	117	121					22																	19463100		2203	4300	6503	SO:0001583	missense	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.29C>G	22.37:g.19463100G>C	ENSP00000263202:p.Pro10Arg		A8MW31|Q9Y5N0	Missense_Mutation	SNP	pfam_UFD1	p.P10R	ENST00000263202.10	37	c.29	CCDS13761.1	22	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038428	0.35989	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054	T;T;T;T;T	0.42131	1.0;1.0;1.01;1.02;0.98	5.72	5.72	0.89469	.	0.098509	0.64402	D	0.000001	T	0.35537	0.0935	L	0.34521	1.04	0.50813	D	0.999894	P;B	0.40731	0.728;0.074	B;B	0.37601	0.254;0.019	T	0.05354	-1.0890	10	0.25106	T	0.35	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	10;10	B4E3I3;Q92890	.;UFD1_HUMAN	R	10;10;10;10;10;5	ENSP00000263202:P10R;ENSP00000354079:P10R;ENSP00000382439:P10R;ENSP00000406680:P10R;ENSP00000418390:P5R	ENSP00000263202:P10R	P	-	2	0	UFD1L	17843100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.089000	0.64492	2.711000	0.92665	0.655000	0.94253	CCT	UFD1L	-	NULL		0.448	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	G			19463100	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19463100	G	C	19463100	3	2	34	1	0	0	0	0	1	0	0	0	16966	1000	35	4	938	4	UFD1L	22	19463100	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	294820	19463100	31841466	416	4883										
ARVCF	421	genome.wustl.edu	37	chr22	19960823	19960823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcgcacattccgcacaagctCagccatggcgtagctccctg	10	16	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:19960823C>G	ENST00000263207.3	-	14	2548	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ARVCF_ENST00000406259.1_Missense_Mutation_p.E747Q|ARVCF_ENST00000406522.1_Missense_Mutation_p.E684Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.E690Q|ARVCF_ENST00000344269.3_Missense_Mutation_p.E690Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	753					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGCACAAGCTCAGCCATGGCG	0.652																																																	0													21	20	20					22																	19960823		2199	4298	6497	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2257G>C	22.37:g.19960823C>G	ENSP00000263207:p.Glu753Gln		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E753Q	ENST00000263207.3	37	c.2257	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372454	0.42003	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.113753	0.64402	D	0.000018	T	0.32645	0.0836	L	0.28115	0.83	0.47308	D	0.999388	B;B	0.17268	0.001;0.021	B;B	0.12156	0.002;0.007	T	0.09400	-1.0676	9	.	.	.	-19.026	12.0944	0.53747	0.0:0.8258:0.1742:0.0	.	753;269	O00192;E7EV58	ARVC_HUMAN;.	Q	753;690;690;684;747	ENSP00000263207:E753Q;ENSP00000342042:E690Q;ENSP00000384341:E690Q;ENSP00000384732:E684Q;ENSP00000385444:E747Q	.	E	-	1	0	ARVCF	18340823	0.630000	0.27155	0.941000	0.38009	0.471000	0.32888	1.273000	0.33121	2.416000	0.81992	0.561000	0.74099	GAG	ARVCF	-	superfamily_ARM-type_fold		0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	C	NM_001670		19960823	-1	no_errors	ENST00000263207	ensembl	human	known	70_37	missense	SNP	0.994	G	G	19960823	C	G	19960823	3	3	34	1	0	0	0	0	1	0	0	0	1004	835	29	1	655	1	ARVCF	22	19960823	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	497723	19960823	31343743	417	4884										
C22orf30	253143	genome.wustl.edu	37	chr22	32112817	32112817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gaaacttcagaattttctttCaaagggcttgtggctgtggg	12	6	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:32112817C>G	ENST00000327423.6	-	4	1197	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	PRR14L_ENST00000434485.1_Missense_Mutation_p.L336F|PRR14L_ENST00000397493.2_Missense_Mutation_p.L336F|PRR14L_ENST00000461722.1_5'UTR	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	336										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AATTTTCTTTCAAAGGGCTTG	0.433																																																	0													343	291	307					22																	32112817		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1008G>C	22.37:g.32112817C>G	ENSP00000331845:p.Leu336Phe		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.L336F	ENST00000327423.6	37	c.1008	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	8.428	0.848001	0.17034	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.09817	2.94;2.96;2.94	4.03	0.715	0.18186	.	0.356860	0.20229	N	0.096525	T	0.19366	0.0465	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.68192	0.956;0.931;0.931	T	0.05241	-1.0897	10	0.45353	T	0.12	1.6407	4.2534	0.10705	0.0:0.3215:0.4181:0.2603	.	336;336;336	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	F	336	ENSP00000380630:L336F;ENSP00000331845:L336F;ENSP00000388314:L336F	ENSP00000331845:L336F	L	-	3	2	PRR14L	30442817	0.000000	0.05858	0.033000	0.17914	0.264000	0.26372	-0.368000	0.07543	0.199000	0.20427	0.650000	0.86243	TTG	PRR14L	-	NULL		0.433	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	C	NM_173566		32112817	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.002	G	G	32112817	C	G	32112817	3	3	34	1	0	0	0	0	1	0	0	0	2147	825	29	1	5471	1	C22orf30	22	32112817	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	12151994	32112817	19191749	418	4885										
C22orf30	253143	genome.wustl.edu	37	chr22	32113264	32113264	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agcagagtttcagctgtaatCtgtacatttccttctgaata	7	8	3	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:32113264C>G	ENST00000327423.6	-	4	750	c.561G>C	c.(559-561)caG>caC	p.Q187H	PRR14L_ENST00000434485.1_Missense_Mutation_p.Q187H|PRR14L_ENST00000397493.2_Missense_Mutation_p.Q187H|PRR14L_ENST00000461722.1_5'UTR	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	187										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAGCTGTAATCTGTACATTTC	0.348																																																	0													175	128	142					22																	32113264		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.561G>C	22.37:g.32113264C>G	ENSP00000331845:p.Gln187His		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.Q187H	ENST00000327423.6	37	c.561	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	8.065	0.768872	0.15983	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.08102	3.13;3.15;3.14	5.21	0.44	0.16572	.	0.284900	0.24978	N	0.034084	T	0.07863	0.0197	L	0.42245	1.32	0.28762	N	0.900872	B	0.27140	0.169	B	0.32583	0.148	T	0.17198	-1.0377	10	0.87932	D	0	-1.0E-4	5.8099	0.18460	0.0:0.6033:0.1663:0.2304	.	187	Q5THK1	PR14L_HUMAN	H	187	ENSP00000380630:Q187H;ENSP00000331845:Q187H;ENSP00000388314:Q187H	ENSP00000331845:Q187H	Q	-	3	2	PRR14L	30443264	0.998000	0.40836	0.292000	0.24919	0.098000	0.18820	0.799000	0.27028	-0.143000	0.11334	-0.355000	0.07637	CAG	PRR14L	-	NULL		0.348	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	C	NM_173566		32113264	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.996	G	G	32113264	C	G	32113264	3	3	34	1	0	0	0	0	1	0	0	0	2147	912	32	1	5918	1	C22orf30	22	32113264	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	447	32113264	19191302	419	4886										
KDELR3	11015	genome.wustl.edu	37	chr22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggatcaggcggtaccagactGagaatttctatgaccaaatt	10	8	2	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478																																					Ovarian(11;103 529 24120 28493 32980)												0													160	142	148					22																	38877382		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.517G>A	22.37:g.38877382G>A	ENSP00000216014:p.Glu173Lys		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt	p.E173K	ENST00000216014.4	37	c.517	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.307001	0.95629	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.80033	-1.33;-1.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.96916	3.905	0.80722	D	1	P;P	0.44776	0.843;0.779	P;P	0.48873	0.558;0.593	D	0.93088	0.6497	10	0.54805	T	0.06	-11.1028	18.4255	0.90607	0.0:0.0:1.0:0.0	.	173;173	O43731;O43731-2	ERD23_HUMAN;.	K	173	ENSP00000216014:E173K;ENSP00000386918:E173K	ENSP00000216014:E173K	E	+	1	0	KDELR3	37207328	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	9.657000	0.98554	2.595000	0.87683	0.650000	0.86243	GAG	KDELR3	-	prints_ER_ret_rcpt		0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR3	HGNC	protein_coding	OTTHUMT00000331474.1	G			38877382	1	no_errors	ENST00000409006	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38877382	G	A	38877382	3	1	34	1	0	0	0	0	1	0	0	0	8141	1291	45	1	531	1	KDELR3	22	38877382	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	6764118	38877382	12427184	420	4887										
NLGN4X	57502	genome.wustl.edu	37	chrX	5821223	5821223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	cggtgggaccgatcatggggAtgccgaagacataggggacc	17	9	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:5821223A>G	ENST00000381095.3	-	5	2123	c.1496T>C	c.(1495-1497)aTc>aCc	p.I499T	NLGN4X_ENST00000538097.1_Missense_Mutation_p.I499T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I519T|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I499T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I499T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	499					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GATCATGGGGATGCCGAAGAC	0.537																																																	0													100	82	88					X																	5821223		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1496T>C	X.37:g.5821223A>G	ENSP00000370485:p.Ile499Thr		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.I519T	ENST00000381095.3	37	c.1556	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257074	0.22965	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.50034	0.1592	N	0.12887	0.27	0.54753	D	0.99998	B;P;B	0.49253	0.004;0.921;0.027	B;P;B	0.49708	0.027;0.62;0.171	T	0.46048	-0.9219	9	0.30078	T	0.28	.	11.4714	0.50270	1.0:0.0:0.0:0.0	.	556;499;519	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	499;519;499;499;499	ENSP00000370485:I499T;ENSP00000370483:I519T;ENSP00000275857:I499T;ENSP00000370482:I499T;ENSP00000439203:I499T	ENSP00000275857:I499T	I	-	2	0	NLGN4X	5831223	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	7.998000	0.88491	1.278000	0.44430	0.486000	0.48141	ATC	NLGN4X	-	pfam_CarbesteraseB		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	A	NM_020742		5821223	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5821223	A	G	5821223	3	3	34	1	0	0	0	0	1	0	0	0	10488	333	12	5	962	5	NLGN4X	23	5821223	Missense_Mutation	SNP	A	TCGA-C5-A2LZ-01A-11D-A20U-09		5821223	149449337	421	4888										
FAM47B	170062	genome.wustl.edu	37	chrX	34961357	34961357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccttggccatgtaccccaatCtgggaaaagatatgcctcca	8	13	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:34961357C>A	ENST00000329357.5	+	1	445	c.409C>A	c.(409-411)Ctg>Atg	p.L137M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	137										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTACCCCAATCTGGGAAAAGA	0.567																																																	0													92	81	85					X																	34961357		2202	4300	6502	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.409C>A	X.37:g.34961357C>A	ENSP00000328307:p.Leu137Met		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.L137M	ENST00000329357.5	37	c.409	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563895	0.27915	.	.	ENSG00000189132	ENST00000329357	T	0.22539	1.95	0.843	0.843	0.18935	.	.	.	.	.	T	0.41305	0.1153	M	0.81802	2.56	0.09310	N	1	D	0.67145	0.996	D	0.65010	0.931	T	0.11966	-1.0566	9	0.72032	D	0.01	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	137	Q8NA70	FA47B_HUMAN	M	137	ENSP00000328307:L137M	ENSP00000328307:L137M	L	+	1	2	FAM47B	34871278	0.410000	0.25376	0.008000	0.14137	0.032000	0.12392	-0.014000	0.12656	0.695000	0.31675	0.292000	0.19580	CTG	FAM47B	-	NULL		0.567	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	C	NM_152631		34961357	1	no_errors	ENST00000329357	ensembl	human	known	70_37	missense	SNP	0.087	A	A	34961357	C	A	34961357	3	1	34	1	0	0	0	0	1	0	0	0	5588	912	32	3	411	3	FAM47B	23	34961357	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	29140134	34961357	120309203	422	4889										
EFHC2	80258	genome.wustl.edu	37	chrX	44091896	44091896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	caggcttcttaacgcgacttCttttcaagaacatcccacca	5	14	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:44091896C>G	ENST00000420999.1	-	10	1534	c.1451G>C	c.(1450-1452)aGa>aCa	p.R484T		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	484	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AACGCGACTTCTTTTCAAGAA	0.393																																																	0													45	38	41					X																	44091896		1875	4089	5964	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1451G>C	X.37:g.44091896C>G	ENSP00000404232:p.Arg484Thr		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.R484T	ENST00000420999.1	37	c.1451	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.875099|2.875099	0.51695|0.51695	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000441230|ENST00000333807;ENST00000420999	T|T;T	0.50813|0.78246	0.73|-1.16;-1.16	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Uncharacterised domain DM10 (2);	.|0.053022	.|0.64402	.|D	.|0.000001	D|D	0.91573|0.91573	0.7338|0.7338	H|H	0.96208|0.96208	3.785|3.785	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.93788|0.93788	0.7090|0.7090	7|10	0.66056|0.87932	D|D	0.02|0	-25.7409|-25.7409	14.386|14.386	0.66945|0.66945	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|484	.|Q5JST6	.|EFHC2_HUMAN	N|T	464|484;512	ENSP00000397513:K464N|ENSP00000333823:R484T;ENSP00000404232:R512T	ENSP00000397513:K464N|ENSP00000333823:R484T	K|R	-|-	3|2	2|0	EFHC2|EFHC2	43976840|43976840	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.266000|0.266000	0.26442|0.26442	5.223000|5.223000	0.65283|0.65283	2.472000|2.472000	0.83506|0.83506	0.600000|0.600000	0.82982|0.82982	AAG|AGA	EFHC2	-	pfam_DUF1126,smart_Uncharacterised_DM10		0.393	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	C	NM_025184		44091896	-1	no_errors	ENST00000333807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44091896	C	G	44091896	3	3	34	1	0	0	0	0	1	0	0	0	4957	913	32	1	822	1	EFHC2	23	44091896	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	9130539	44091896	111178664	423	4890										
NDUFB11	54539	genome.wustl.edu	37	chrX	47003939	47003939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gtgtggtcggttctgggggcCgctttcccgccacagcggac	16	13	1	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:47003939C>T	ENST00000377811.3	-	1	964	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.R47Q|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	47					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						TTCTGGGGGCCGCTTTCCCGC	0.697											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(77;454 1296 7908 21551 37072)												0													13	13	13					X																	47003939		2115	4117	6232	SO:0001583	missense	54539			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"Mitochondrial respiratory chain complex / Complex I"	20372	protein-coding gene	gene with protein product	"complex I NP17.3 subunit"	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.140G>A	X.37:g.47003939C>T	ENSP00000367042:p.Arg47Gln	943	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ESSS_su	p.R47Q	ENST00000377811.3	37	c.140	CCDS48100.1	X	.	.	.	.	.	.	.	.	.	.	c	13.68	2.309835	0.40895	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000003	T	0.49338	0.1551	M	0.75447	2.3	0.39908	D	0.973982	P;P	0.40398	0.716;0.669	B;B	0.32149	0.141;0.086	T	0.52019	-0.8631	9	0.18710	T	0.47	-8.0209	10.7381	0.46137	0.0:1.0:0.0:0.0	.	47;47	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	Q	47;51;47	.	ENSP00000276062:R47Q	R	-	2	0	NDUFB11	46888883	0.998000	0.40836	0.811000	0.32455	0.034000	0.12701	2.302000	0.43637	2.297000	0.77311	0.529000	0.55759	CGG	NDUFB11	-	pfam_NADH_UbQ_OxRdtase_ESSS_su		0.697	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB11	HGNC	protein_coding	OTTHUMT00000056382.1	C	NM_019056		47003939	-1	no_errors	ENST00000276062	ensembl	human	known	70_37	missense	SNP	0.889	T	T	47003939	C	T	47003939	3	4	34	1	0	0	0	0	1	0	0	0	10304	652	23	2	363	2	NDUFB11	23	47003939	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	2912043	47003939	108266621	424	4891										
HDAC6	10013	genome.wustl.edu	37	chrX	48676649	48676649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgctatatgtgtccctgcacCgctatgatcatggcaccttc	8	13	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:48676649C>T	ENST00000334136.5	+	22	2195	c.2017C>T	c.(2017-2019)Cgc>Tgc	p.R673C	HDAC6_ENST00000376619.2_Missense_Mutation_p.R673C|HDAC6_ENST00000444343.2_Missense_Mutation_p.R687C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	673	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTCCCTGCACCGCTATGATCA	0.642																																					Pancreas(112;205 1675 2305 8976 15959)												0													75	49	58					X																	48676649		2193	4288	6481	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2017C>T	X.37:g.48676649C>T	ENSP00000334061:p.Arg673Cys		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.R687C	ENST00000334136.5	37	c.2059	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835404	0.91117	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72167	-0.63;-0.63;-0.63	5.35	5.35	0.76521	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89603	0.3836	10	0.87932	D	0	-21.423	15.4029	0.74855	0.0:1.0:0.0:0.0	.	663;321;673	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	C	687;673;673;673	ENSP00000398566:R687C;ENSP00000334061:R673C;ENSP00000365804:R673C	ENSP00000334061:R673C	R	+	1	0	HDAC6	48561593	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.456000	0.66665	2.229000	0.72834	0.600000	0.82982	CGC	HDAC6	-	pfam_His_deacetylse_dom		0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48676649	1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48676649	C	T	48676649	3	4	34	1	0	0	0	0	1	0	0	0	7031	652	23	2	2099	2	HDAC6	23	48676649	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	1672710	48676649	106593911	425	4892										
SHROOM4	57477	genome.wustl.edu	37	chrX	50350549	50350549	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gctctgctgggacactttgtGaaccctgtctcgagccctcc	10	15	2	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:50350549G>A	ENST00000289292.7	-	6	3876	c.3593C>T	c.(3592-3594)tCa>tTa	p.S1198L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S1198L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S1082L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1198					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACACTTTGTGAACCCTGTCT	0.537																																																	0													93	79	83					X																	50350549		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3593C>T	X.37:g.50350549G>A	ENSP00000289292:p.Ser1198Leu		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1198L	ENST00000289292.7	37	c.3593	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546621	0.04024	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28255	1.62;1.62;1.62	4.36	3.5	0.40072	.	1.537360	0.04035	N	0.302097	T	0.24236	0.0587	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.17167	-1.0378	10	0.44086	T	0.13	.	7.3357	0.26609	0.1194:0.0:0.8806:0.0	.	1198	Q9ULL8	SHRM4_HUMAN	L	1198;1198;1082	ENSP00000289292:S1198L;ENSP00000365188:S1198L;ENSP00000421450:S1082L	ENSP00000289292:S1198L	S	-	2	0	SHROOM4	50367289	0.393000	0.25237	0.002000	0.10522	0.263000	0.26337	2.307000	0.43682	1.186000	0.42985	0.513000	0.50165	TCA	SHROOM4	-	NULL		0.537	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	G	NM_020717		50350549	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	0.002	A	A	50350549	G	A	50350549	3	1	34	1	0	0	0	0	1	0	0	0	14326	1294	45	1	904	1	SHROOM4	23	50350549	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1673900	50350549	104920011	426	4893										
KDM5C	8242	genome.wustl.edu	37	chrX	53228252	53228252	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	agtcgtagcaggccagggctGacaggaaacacgtagtcttg	14	9	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:53228252G>C	ENST00000375401.3	-	15	2682	c.2150C>G	c.(2149-2151)tCa>tGa	p.S717*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.S717*|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.S650*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.S676*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.S716*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	717					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.S717L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCCAGGGCTGACAGGAAACA	0.562			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Missense(1)	breast(1)											168	129	142					X																	53228252		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2150C>G	X.37:g.53228252G>C	ENSP00000364550:p.Ser717*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S717*	ENST00000375401.3	37	c.2150	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	45	11.358928	0.99551	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.4584	14.2463	0.65990	0.0:0.0:1.0:0.0	.	.	.	.	X	650;717;716;717;676	.	ENSP00000364528:S717X	S	-	2	0	KDM5C	53244977	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.735000	0.98825	1.935000	0.56089	0.519000	0.50382	TCA	KDM5C	-	pfam_Znf_C5HC2		0.562	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	G	NM_004187		53228252	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	53228252	G	C	53228252	4	2	34	1	0	0	0	0	0	1	0	0	8155	1294	45	1	2678	1	KDM5C	23	53228252	Nonsense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2877703	53228252	102042308	427	4894										
AWAT2	158835	genome.wustl.edu	37	chrX	69269699	69269699	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ccaaaggctgaagactcactGataagcaaggcactgaagga	11	9	1	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:69269699G>A	ENST00000276101.3	-	1	89	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	28					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AAGACTCACTGATAAGCAAGG	0.512																																					NSCLC(80;1334 1436 9350 24214 26427)												0													122	85	97					X																	69269699		2203	4300	6503	SO:0001630	splice_region_variant	158835			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.85+1C>T	X.37:g.69269699G>A			Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.I28	ENST00000276101.3	37	c.84	CCDS35320.1	X																																																																																			AWAT2	-	NULL		0.512	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	G	NM_001002254	Silent	69269699	-1	no_errors	ENST00000276101	ensembl	human	known	70_37	silent	SNP	0.012	A	A	69269699	G	A	69269699	5	1	34	1	0	0	0	0	0	0	1	0	1236	1304	45	1	945	1	AWAT2	23	69269699	Splice_Site	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	16041447	69269699	86000861	428	4895										
NLGN3	54413	genome.wustl.edu	37	chrX	70387280	70387280	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	acaatctgtatggctatcctGagggtaaggacaccctgcga	11	10	1	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:70387280G>A	ENST00000358741.3	+	7	1636	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	NLGN3_ENST00000536169.1_Missense_Mutation_p.E405K|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.E425K	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	445					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGGCTATCCTGAGGGTAAGGA	0.517																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													123	93	103					X																	70387280		2203	4300	6503	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1333G>A	X.37:g.70387280G>A	ENSP00000351591:p.Glu445Lys		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E445K	ENST00000358741.3	37	c.1333	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747339	0.69533	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	L	0.44542	1.39	0.80722	D	1	B;P;B	0.35192	0.213;0.489;0.178	B;B;B	0.39935	0.092;0.314;0.095	T	0.60816	-0.7188	10	0.59425	D	0.04	.	17.8251	0.88662	0.0:0.0:1.0:0.0	.	405;445;425	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	K	405;425;405;445	ENSP00000445298:E405K;ENSP00000363163:E425K;ENSP00000379196:E405K;ENSP00000351591:E445K	ENSP00000351591:E445K	E	+	1	0	NLGN3	70304005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.398000	0.81561	0.431000	0.28591	GAG	NLGN3	-	pfam_CarbesteraseB		0.517	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	G	NM_018977		70387280	1	no_errors	ENST00000358741	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70387280	G	A	70387280	3	1	34	1	0	0	0	0	1	0	0	0	10487	1291	45	1	1355	1	NLGN3	23	70387280	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1117581	70387280	84883280	429	4896										
ERCC6L	54821	genome.wustl.edu	37	chrX	71425620	71425620	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ttctcagaaaactcccaactGagacatgttttgctatgcac	6	11	1	2	rs371897834		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:71425620G>A	ENST00000334463.3	-	2	3132	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	ERCC6L_ENST00000373657.1_Silent_p.L876L|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	999					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACTCCCAACTGAGACATGTTT	0.398																																																	0								G	,	1,3834		0,1,1631,571	120	110	113		,2997	2.9	0	X		113	0,6728		0,0,2428,1872	no	intron,coding-synonymous	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,	,999/1251	71425620	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2997C>T	X.37:g.71425620G>A			Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L999	ENST00000334463.3	37	c.2997	CCDS35329.1	X																																																																																			ERCC6L	-	NULL		0.398	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	G	NM_017669		71425620	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	silent	SNP	0.015	A	A	71425620	G	A	71425620	2	1	34	1	0	0	0	0	0	0	0	1	5230	1277	45	1		1	ERCC6L	23	71425620	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1038340	71425620	83844940	430	4897										
ZCCHC13	389874	genome.wustl.edu	37	chrX	73524431	73524431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgtgatcgtcagaaagagcaGaaatgctactcttgcggcaa	11	8	2	4			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:73524431G>C	ENST00000339534.2	+	1	407	c.330G>C	c.(328-330)caG>caC	p.Q110H		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	110							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGAAAGAGCAGAAATGCTACT	0.517																																																	0													96	76	83					X																	73524431		2203	4300	6503	SO:0001583	missense	389874			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"Zinc fingers, CCHC domain containing"	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.330G>C	X.37:g.73524431G>C	ENSP00000345633:p.Gln110His			Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q110H	ENST00000339534.2	37	c.330	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033348	0.35893	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	2.57	0.30868	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.181389	0.36703	U	0.002447	T	0.47673	0.1458	L	0.54323	1.7	0.44587	D	0.997552	P	0.35542	0.508	B	0.32724	0.151	T	0.47262	-0.9131	9	0.72032	D	0.01	.	8.0107	0.30351	0.2095:0.0:0.7905:0.0	.	110	Q8WW36	ZCH13_HUMAN	H	110	.	ENSP00000345633:Q110H	Q	+	3	2	ZCCHC13	73441156	1.000000	0.71417	0.973000	0.42090	0.379000	0.30106	1.213000	0.32407	0.591000	0.29711	0.529000	0.55759	CAG	ZCCHC13	-	pfam_Znf_CCHC,superfamily_Znf_CCHC		0.517	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	HGNC	protein_coding	OTTHUMT00000057260.1	G	NM_203303		73524431	1	no_errors	ENST00000339534	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73524431	G	C	73524431	3	2	34	1	0	0	0	0	1	0	0	0	17612	933	33	1	332	1	ZCCHC13	23	73524431	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2098811	73524431	81746129	431	4898										
RLIM	51132	genome.wustl.edu	37	chrX	73812278	73812278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ctccttgagaagcatttcttGttccagaagctgcaaaaaga	8	9	1	3			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:73812278G>T	ENST00000332687.6	-	4	1090	c.872C>A	c.(871-873)aCa>aAa	p.T291K	RLIM_ENST00000349225.2_Missense_Mutation_p.T291K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	291					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCATTTCTTGTTCCAGAAGC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													69	61	64					X																	73812278		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.872C>A	X.37:g.73812278G>T	ENSP00000328059:p.Thr291Lys		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T291K	ENST00000332687.6	37	c.872	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304900	0.23736	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08370	3.1;3.1	5.79	2.71	0.32032	.	0.615068	0.17163	N	0.184608	T	0.07863	0.0197	L	0.42245	1.32	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.22068	-1.0227	10	0.40728	T	0.16	-1.8137	8.7377	0.34539	0.1616:0.1275:0.7109:0.0	.	291	Q9NVW2	RNF12_HUMAN	K	291	ENSP00000328059:T291K;ENSP00000253571:T291K	ENSP00000328059:T291K	T	-	2	0	RLIM	73729003	0.977000	0.34250	0.999000	0.59377	0.963000	0.63663	3.468000	0.53086	1.205000	0.43262	0.600000	0.82982	ACA	RLIM	-	NULL		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	G	NM_016120		73812278	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	missense	SNP	0.032	T	T	73812278	G	T	73812278	3	4	34	1	0	0	0	0	1	0	0	0	13420	1377	48	4	1006	4	RLIM	23	73812278	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	287847	73812278	81458282	432	4899										
RLIM	51132	genome.wustl.edu	37	chrX	73812297	73812297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tgttccagaagctgcaaaaaGacctctacttagcaactcag	7	11	2	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:73812297G>A	ENST00000332687.6	-	4	1071	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	RLIM_ENST00000349225.2_Missense_Mutation_p.L285F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	285					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCAAAAAGACCTCTACTT	0.483																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													75	68	71					X																	73812297		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.853C>T	X.37:g.73812297G>A	ENSP00000328059:p.Leu285Phe		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L285F	ENST00000332687.6	37	c.853	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038221	0.19669	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08720	3.06;3.06	5.79	3.64	0.41730	.	0.516617	0.19397	N	0.115269	T	0.09730	0.0239	L	0.55990	1.75	0.09310	N	0.999995	B	0.21381	0.055	B	0.18263	0.021	T	0.15464	-1.0436	10	0.41790	T	0.15	-7.0639	10.7057	0.45954	0.0809:0.0:0.7848:0.1342	.	285	Q9NVW2	RNF12_HUMAN	F	285	ENSP00000328059:L285F;ENSP00000253571:L285F	ENSP00000328059:L285F	L	-	1	0	RLIM	73729022	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	3.949000	0.56668	1.147000	0.42369	0.600000	0.82982	CTT	RLIM	-	NULL		0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	G	NM_016120		73812297	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	missense	SNP	0.023	A	A	73812297	G	A	73812297	3	1	34	1	0	0	0	0	1	0	0	0	13420	942	33	1	1025	1	RLIM	23	73812297	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	19	73812297	81458263	433	4900										
ABCB7	22	genome.wustl.edu	37	chrX	74282251	74282251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	tggctcttgcaattgctactCtttgcttttctcctcctggt	7	12	3	0			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:74282251C>T	ENST00000373394.3	-	14	1854	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Missense_Mutation_p.R576K|ABCB7_ENST00000253577.3_Missense_Mutation_p.R617K			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	616	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATTGCTACTCTTTGCTTTTC	0.368																																																	0													101	89	93					X																	74282251		2203	4300	6503	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1847G>A	X.37:g.74282251C>T	ENSP00000362492:p.Arg616Lys		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R617K	ENST00000373394.3	37	c.1850		X	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832111	0.91036	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92590	0.7646	L	0.48935	1.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.978;0.991;0.998;0.991	D	0.93488	0.6833	10	0.87932	D	0	-18.4049	16.9284	0.86183	0.0:1.0:0.0:0.0	.	590;576;617;616;617	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	K	590;617;576;616;590	ENSP00000253577:R617K;ENSP00000343849:R576K;ENSP00000362492:R616K;ENSP00000436586:R590K	ENSP00000253577:R617K	R	-	2	0	ABCB7	74198976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.372000	0.79612	2.204000	0.70986	0.594000	0.82650	AGA	ABCB7	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.368	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	C	NM_004299		74282251	-1	no_errors	ENST00000253577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74282251	C	T	74282251	3	4	34	1	0	0	0	0	1	0	0	0	46	913	32	1	423	1	ABCB7	23	74282251	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	469954	74282251	80988309	434	4901										
PLP1	5354	genome.wustl.edu	37	chrX	103041593	103041593	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	ggggttccagaggccaacatCaagctcattctttggagcgg	13	10	3	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:103041593C>G	ENST00000303958.2	+	3	537	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Missense_Mutation_p.Q131E	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	131			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGCCAACATCAAGCTCATTC	0.542																																																	0													146	124	132					X																	103041593		2203	4300	6503	SO:0001583	missense	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.391C>G	X.37:g.103041593C>G	ENSP00000305152:p.Gln131Glu		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.Q131E	ENST00000303958.2	37	c.391	CCDS14513.1	X	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114488	0.20795	.	.	ENSG00000123560	ENST00000429977;ENST00000455268;ENST00000418604;ENST00000303958;ENST00000428755	D;D;D;D	0.99239	-5.06;-4.97;-5.61;-5.61	5.78	5.78	0.91487	.	0.167911	0.40385	N	0.001116	D	0.96682	0.8917	N	0.22421	0.69	0.28715	N	0.903353	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.004;0.001;0.004	D	0.87167	0.2218	10	0.06365	T	0.9	-8.412	16.1536	0.81640	0.0:1.0:0.0:0.0	.	76;131;131;131	B4DI30;A8K9L3;B1B1G6;P60201	.;.;.;MYPR_HUMAN	E	131;131;131;131;109	ENSP00000399913:Q131E;ENSP00000409802:Q131E;ENSP00000405750:Q131E;ENSP00000305152:Q131E	ENSP00000305152:Q131E	Q	+	1	0	PLP1	102928249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.930000	0.56522	2.417000	0.82017	0.600000	0.82982	CAA	PLP1	-	pfam_Myelin_PLP,prints_Myelin_PLP		0.542	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	C			103041593	1	no_errors	ENST00000303958	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103041593	C	G	103041593	3	3	34	1	0	0	0	0	1	0	0	0	12128	827	29	1	401	1	PLP1	23	103041593	Missense_Mutation	SNP	C	TCGA-C5-A2LZ-01A-11D-A20U-09	28759342	103041593	52228967	435	4902										
MUM1L1	139221	genome.wustl.edu	37	chrX	105451483	105451483	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcaaaaataatatatgaaaaGagacgaaaagcaccaacaaa	6	6	0	2			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:105451483G>C	ENST00000357175.2	+	4	2707	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.K686N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K686N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	686						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATATGAAAAGAGACGAAAAG	0.373																																																	0																																										SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.2058G>C	X.37:g.105451483G>C	ENSP00000349699:p.Lys686Asn		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.K686N	ENST00000357175.2	37	c.2058	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630784	0.28978	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.25579	1.79;1.79;1.79	3.85	3.85	0.44370	.	0.269718	0.25666	N	0.029120	T	0.42337	0.1198	L	0.53249	1.67	0.36322	D	0.858341	D	0.89917	1.0	D	0.87578	0.998	T	0.48186	-0.9057	10	0.48119	T	0.1	-26.717	10.2276	0.43236	0.0:0.0:1.0:0.0	.	686	Q5H9M0	MUML1_HUMAN	N	686	ENSP00000349699:K686N;ENSP00000338641:K686N;ENSP00000361632:K686N	ENSP00000338641:K686N	K	+	3	2	MUM1L1	105338139	1.000000	0.71417	0.999000	0.59377	0.383000	0.30230	2.409000	0.44583	2.169000	0.68431	0.422000	0.28245	AAG	MUM1L1	-	NULL		0.373	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	G	NM_152423		105451483	1	no_errors	ENST00000337685	ensembl	human	known	70_37	missense	SNP	0.999	C	C	105451483	G	C	105451483	3	2	34	1	0	0	0	0	1	0	0	0	10009	933	33	1	2060	1	MUM1L1	23	105451483	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	2409890	105451483	49819077	436	4903										
COL4A6	1288	genome.wustl.edu	37	chrX	107412840	107412840	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	gcaggcccaggcacaccggtGatactaggtcctaggaggag	15	11	0	1			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:107412840G>A	ENST00000372216.4	-	37	3679	c.3579C>T	c.(3577-3579)atC>atT	p.I1193I	COL4A6_ENST00000394872.2_Silent_p.I1193I|COL4A6_ENST00000334504.7_Silent_p.I1192I|COL4A6_ENST00000538570.1_Silent_p.I1168I|COL4A6_ENST00000545689.1_Silent_p.I1168I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1193	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCACACCGGTGATACTAGGTC	0.612									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													29	24	26					X																	107412840		2203	4300	6503	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3579C>T	X.37:g.107412840G>A			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.I1193	ENST00000372216.4	37	c.3579	CCDS14541.1	X																																																																																			COL4A6	-	NULL		0.612	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	G			107412840	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	silent	SNP	0.073	A	A	107412840	G	A	107412840	2	1	34	1	0	0	0	0	0	0	0	1	3700	1280	45	1		1	COL4A6	23	107412840	Silent	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	1961357	107412840	47857720	437	4904										
HTATSF1	27336	genome.wustl.edu	37	chrX	135593294	135593294	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.558352402745995	244	8.23623348518025e-89	3.9485685578124	5.11783417061834	3.45404044917046	9.4389470823476e-07	1.66468703088676e-05	182	aggctgaagaaggctgccctGaaaaagaatctgaagagggc	14	7	1	6			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:135593294G>A	ENST00000218364.4	+	9	1564	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E464K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	464	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGGCTGCCCTGAAAAAGAATC	0.468																																																	0													51	57	55					X																	135593294		2186	4287	6473	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1390G>A	X.37:g.135593294G>A	ENSP00000218364:p.Glu464Lys		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E464K	ENST00000218364.4	37	c.1390	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268666	0.01433	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.21031	2.03;2.03	3.5	-1.88	0.07713	.	1.121870	0.06768	N	0.782983	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37267	-0.9713	10	0.09084	T	0.74	10.3581	5.4381	0.16492	0.5133:0.1725:0.3142:0.0	.	464	O43719	HTSF1_HUMAN	K	464	ENSP00000442699:E464K;ENSP00000218364:E464K	ENSP00000218364:E464K	E	+	1	0	HTATSF1	135420960	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.285000	0.18883	-0.586000	0.05898	-0.355000	0.07637	GAA	HTATSF1	-	NULL		0.468	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135593294	1	no_errors	ENST00000218364	ensembl	human	known	70_37	missense	SNP	0.000	A	A	135593294	G	A	135593294	3	1	34	1	0	0	0	0	1	0	0	0	7453	1291	45	1	1424	1	HTATSF1	23	135593294	Missense_Mutation	SNP	G	TCGA-C5-A2LZ-01A-11D-A20U-09	28180454	135593294	19677266	438	4905										
SCNN1D	6339	genome.wustl.edu	37	chr1	1221039	1221039	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acaacgctgcctgcaaacagGgccaggtagggcctgagcac	13	13	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:1221039G>A	ENST00000338555.2	+	4	1210				SCNN1D_ENST00000379116.5_Missense_Mutation_p.G185S|SCNN1D_ENST00000400928.3_Intron|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G87S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit						ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCAAACAGGGCCAGGTAGG	0.627																																																	0													65	69	68					1																	1221039		692	1589	2281	SO:0001627	intron_variant	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.67-267G>A	1.37:g.1221039G>A			A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.G185S	ENST00000338555.2	37	c.553		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.027|6.027	0.373439|0.373439	0.11409|0.11409	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379110|ENST00000379116;ENST00000325425	.|T;T	.|0.71461	.|-0.57;-0.46	1.47|1.47	-2.95|-2.95	0.05564|0.05564	.|.	714.353000|714.353000	0.00166|0.00166	N|N	0.000000|0.000000	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.44477	.|0.451	T|T	0.48614|0.48614	-0.9020|-0.9020	7|10	0.10377|0.72032	T|D	0.69|0.01	.|.	3.8634|3.8634	0.09005|0.09005	0.0:0.2162:0.2884:0.4954|0.0:0.2162:0.2884:0.4954	.|.	.|185	.|A6NNF7	.|.	E|S	52|185;87	.|ENSP00000368411:G185S;ENSP00000321594:G87S	ENSP00000368404:G52E|ENSP00000321594:G87S	G|G	+|+	2|1	0|0	SCNN1D|SCNN1D	1210902|1210902	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.840000|-0.840000	0.04363|0.04363	-0.836000|-0.836000	0.04229|0.04229	0.299000|0.299000	0.19835|0.19835	GGG|GGC	SCNN1D	-	NULL		0.627	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	G	NM_002978		1221039	1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1221039	G	A	1221039	1	1	35	0	1	0	0	0	0	0	0	0	13959	1232	43	4		4	SCNN1D	1	1221039	Intron	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		1221039	248029582	1	4906										
TAS1R3	83756	genome.wustl.edu	37	chr1	1268706	1268706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ccgggtcaaggggttccactCctgctgctacgactgtgtgg	14	12	1	0	rs200421419		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:1268706C>G	ENST00000339381.5	+	5	1579	c.1547C>G	c.(1546-1548)tCc>tGc	p.S516C		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	516					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGGTTCCACTCCTGCTGCTAC	0.711																																																	0													24	26	26					1																	1268706		2188	4291	6479	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1547C>G	1.37:g.1268706C>G	ENSP00000344411:p.Ser516Cys		Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S516C	ENST00000339381.5	37	c.1547	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784005	0.70222	.	.	ENSG00000169962	ENST00000339381	D	0.90261	-2.64	4.42	4.42	0.53409	GPCR, family 3, nine cysteines domain (1);	0.139798	0.49305	D	0.000142	D	0.95290	0.8472	M	0.92459	3.31	0.40801	D	0.983345	D	0.89917	1.0	D	0.81914	0.995	D	0.94841	0.8005	10	0.49607	T	0.09	.	6.7958	0.23725	0.0:0.8332:0.0:0.1668	.	516	Q7RTX0	TS1R3_HUMAN	C	516	ENSP00000344411:S516C	ENSP00000344411:S516C	S	+	2	0	TAS1R3	1258569	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.991000	0.56973	2.018000	0.59344	0.456000	0.33151	TCC	TAS1R3	-	pfam_GPCR_3_9-Cys_dom		0.711	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	C			1268706	1	no_errors	ENST00000339381	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1268706	C	G	1268706	3	3	35	1	0	0	0	0	1	0	0	0	15594	855	30	1	1565	1	TAS1R3	1	1268706	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	47667	1268706	247981915	2	4907										
PRAMEF4	400735	genome.wustl.edu	37	chr1	12941742	12941742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ataaagcttttggaggcagcGcagcttgaggaactgagtgg	15	6	0	2	rs4514247	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:12941742G>A	ENST00000235349.5	-	3	878	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	270					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGCAGCGCAGCTTGAGG	0.517													g|||	339	0.0676917	0.0295	0.0937	5008	,	,		19524	0.0218		0.1113	False		,,,				2504	0.1033																0								G	CYS/ARG	92,2634		16,60,1287	92	114	106		808	-3	0	1	dbSNP_111	106	491,4189		59,373,1908	no	missense	PRAMEF4	NM_001009611.2	180	75,433,3195	AA,AG,GG		10.4915,3.3749,7.872	benign	270/479	12941742	583,6823	1363	2340	3703	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.808C>T	1.37:g.12941742G>A	ENSP00000235349:p.Arg270Cys		Q5LJB5	Missense_Mutation	SNP	NULL	p.R270C	ENST00000235349.5	37	c.808	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	a	0.770	-0.766178	0.02974	0.033749	0.104915	ENSG00000243073	ENST00000235349	T	0.53640	0.61	1.48	-2.96	0.05547	.	1.296340	0.05107	N	0.488245	T	0.00724	0.0024	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.04041	-1.0982	10	0.48119	T	0.1	.	1.4963	0.02467	0.1516:0.3729:0.286:0.1895	rs4514247	270	O60810	PRAM4_HUMAN	C	270	ENSP00000235349:R270C	ENSP00000235349:R270C	R	-	1	0	PRAMEF4	12864329	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.011000	0.13264	-1.872000	0.01136	-1.914000	0.00519	CGC	PRAMEF4	-	NULL		0.517	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	G	NM_001009611		12941742	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.000	A	A	12941742	G	A	12941742	3	1	35	1	0	0	0	0	1	0	0	0	12464	1087	38	2	636	2	PRAMEF4	1	12941742	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	11673036	12941742	236308879	3	4908										
PIK3R3	8503	genome.wustl.edu	37	chr1	46512229	46512229	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tagagagaacttactcatcaGcatcctcattcttaattccc	4	12	4	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:46512229G>C	ENST00000262741.5	-	8	1699	c.1010C>G	c.(1009-1011)gCt>gGt	p.A337G	PIK3R3_ENST00000340332.6_Missense_Mutation_p.A242G|PIK3R3_ENST00000540385.1_Missense_Mutation_p.A383G|PIK3R3_ENST00000423209.1_Missense_Mutation_p.A278G|PIK3R3_ENST00000372006.1_Missense_Mutation_p.A337G|PIK3R3_ENST00000354242.4_Missense_Mutation_p.A278G|PIK3R3_ENST00000420542.1_Missense_Mutation_p.A337G|PIK3R3_ENST00000488808.1_5'UTR|RP4-533D7.4_ENST00000450004.1_RNA	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	337					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTACTCATCAGCATCCTCATT	0.428																																																	0													179	169	173					1																	46512229		2203	4300	6503	SO:0001583	missense	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1010C>G	1.37:g.46512229G>C	ENSP00000262741:p.Ala337Gly		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.A383G	ENST00000262741.5	37	c.1148	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218211	0.39201	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.85702	-1.24;-1.24;-1.24;-1.42;-2.02;-1.24;-1.42	5.1	3.23	0.37069	.	0.480009	0.24884	N	0.034829	T	0.68348	0.2991	N	0.14661	0.345	0.24253	N	0.995319	B;B;B;B	0.28605	0.217;0.0;0.0;0.001	B;B;B;B	0.31946	0.138;0.004;0.001;0.001	T	0.53690	-0.8403	10	0.15499	T	0.54	-7.6544	4.751	0.13061	0.3845:0.0:0.6154:0.0	.	383;370;278;337	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	G	337;337;337;278;242;383;278	ENSP00000361075:A337G;ENSP00000262741:A337G;ENSP00000412546:A337G;ENSP00000346188:A278G;ENSP00000342484:A242G;ENSP00000439913:A383G;ENSP00000391431:A278G	ENSP00000262741:A337G	A	-	2	0	PIK3R3	46284816	0.998000	0.40836	0.923000	0.36655	0.985000	0.73830	3.022000	0.49659	1.527000	0.49086	0.655000	0.94253	GCT	PIK3R3	-	NULL		0.428	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	G	NM_003629		46512229	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	0.991	C	C	46512229	G	C	46512229	3	2	35	1	0	0	0	0	1	0	0	0	11944	971	34	4	387	4	PIK3R3	1	46512229	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	33570487	46512229	202738392	4	4909										
PCSK9	255738	genome.wustl.edu	37	chr1	55505538	55505539	+	Frame_Shift_Ins	INS	-	-	GA													0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cgtcagctccaggcggtcctINSggtggccgctgccactgctg							TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:55505538_55505539insGA	ENST00000302118.5	+	1	318_319	c.28_29insGA	c.(28-30)tggfs	p.W10fs	PCSK9_ENST00000452118.2_Frame_Shift_Ins_p.W10fs|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	10					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CAGGCGGTCCTGGTGgccgctg	0.723																																					Pancreas(137;1454 1827 5886 22361 42375)												0																																										SO:0001589	frameshift_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	Exception_encountered	1.37:g.55505538_55505539insGA	ENSP00000303208:p.Trp10fs		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Frame_Shift_Ins	INS	pfam_Peptidase_S8/S53,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.W10fs	ENST00000302118.5	37	c.28_29	CCDS603.1	1																																																																																			PCSK9	-	NULL		0.723	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1	-	NM_174936		55505539	1	no_errors	ENST00000302118	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.154	GA	GA	55505539	-	GA	55505538	7	5	35	1	0	1	1	0	0	0	0	0	11630	1580	55	0	30	0	PCSK9	1	55505538	Frame_Shift_Ins	INS	-	TCGA-C5-A2M1-01A-11D-A18J-09	8993309	55505538	193745083	5	4910										
VAV3	10451	genome.wustl.edu	37	chr1	108292200	108292200	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acatacgatcactgccaaatCaaataagaagatatgcctgg	7	9	2	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:108292200C>G	ENST00000370056.4	-	14	1550	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	VAV3_ENST00000527011.1_Missense_Mutation_p.D426H|VAV3_ENST00000371846.4_Missense_Mutation_p.D361H|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	426	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACTGCCAAATCAAATAAGAAG	0.318																																																	0													105	95	99					1																	108292200		2202	4296	6498	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1276G>C	1.37:g.108292200C>G	ENSP00000359073:p.Asp426His		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.D426H	ENST00000370056.4	37	c.1276	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.409729|4.409729	0.83340|0.83340	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.099226|.	0.64402|.	D|.	0.000002|.	T|T	0.78329|0.78329	0.4266|0.4266	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.89917|.	0.927;0.999;1.0;0.783|.	D;D;D;D|.	0.87578|.	0.929;0.996;0.998;0.915|.	T|T	0.76854|0.76854	-0.2805|-0.2805	10|5	0.87932|.	D|.	0|.	.|.	20.1356|20.1356	0.98028|0.98028	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;426;361;426|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	H|F	426;426;361|420	ENSP00000359073:D426H;ENSP00000432540:D426H;ENSP00000360912:D361H|.	ENSP00000359073:D426H|.	D|L	-|-	1|3	0|2	VAV3|VAV3	108093723|108093723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.487000|7.487000	0.81328|0.81328	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GAT|TTG	VAV3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	C	NM_006113		108292200	-1	no_errors	ENST00000370056	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108292200	C	G	108292200	3	3	35	1	0	0	0	0	1	0	0	0	17164	826	29	1	1348	1	VAV3	1	108292200	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	52786662	108292200	140958421	6	4911										
RPRD2	23248	genome.wustl.edu	37	chr1	150413444	150413444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gaacgaatctttaaaatctgGgaagatagaaatgtataccc	8	6	2	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:150413444G>T	ENST00000369068.4	+	3	385	c.381G>T	c.(379-381)tgG>tgT	p.W127C	RPRD2_ENST00000401000.4_Missense_Mutation_p.W127C|RPRD2_ENST00000539519.1_Missense_Mutation_p.W127C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Missense_Mutation_p.W127C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	127	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTAAAATCTGGGAAGATAGAA	0.338																																																	0													50	48	49					1																	150413444		1799	4056	5855	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.381G>T	1.37:g.150413444G>T	ENSP00000358064:p.Trp127Cys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.W127C	ENST00000369068.4	37	c.381	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809357	0.70797	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.33	5.33	0.75918	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.052699	0.85682	D	0.000000	D	0.95220	0.8450	M	0.93638	3.44	0.80722	D	1	P;P;D	0.89917	0.889;0.941;1.0	P;P;D	0.87578	0.847;0.887;0.998	D	0.95742	0.8784	10	0.87932	D	0	-4.7082	19.2171	0.93782	0.0:0.0:1.0:0.0	.	127;127;127	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	C	127	ENSP00000383785:W127C;ENSP00000445482:W127C;ENSP00000358063:W127C;ENSP00000358064:W127C	ENSP00000358063:W127C	W	+	3	0	RPRD2	148680068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.133000	0.94460	2.771000	0.95319	0.650000	0.86243	TGG	RPRD2	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD		0.338	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	G	NM_015203		150413444	1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150413444	G	T	150413444	3	4	35	1	0	0	0	0	1	0	0	0	13647	1241	43	4	391	4	RPRD2	1	150413444	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	42121244	150413444	98837177	7	4912										
OR10K1	391109	genome.wustl.edu	37	chr1	158436055	158436055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cccttcctccgttggaagatAcaagaccttctccacctgtg	7	15	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:158436055A>G	ENST00000289451.2	+	1	784	c.704A>G	c.(703-705)tAc>tGc	p.Y235C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GTTGGAAGATACAAGACCTTC	0.448																																																	0													152	131	138					1																	158436055		2203	4300	6503	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.704A>G	1.37:g.158436055A>G	ENSP00000289451:p.Tyr235Cys		Q6IFS2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y235C	ENST00000289451.2	37	c.704	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	a	6.613	0.481500	0.12581	.	.	ENSG00000173285	ENST00000289451	T	0.00107	8.72	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.427917	0.17242	N	0.181506	T	0.00039	0.0001	N	0.25647	0.755	0.23401	N	0.997756	B	0.16802	0.019	B	0.19666	0.026	T	0.14392	-1.0474	10	0.44086	T	0.13	.	12.446	0.55651	1.0:0.0:0.0:0.0	.	235	Q8NGX5	O10K1_HUMAN	C	235	ENSP00000289451:Y235C	ENSP00000289451:Y235C	Y	+	2	0	OR10K1	156702679	0.000000	0.05858	0.351000	0.25721	0.449000	0.32228	0.467000	0.22035	1.753000	0.51906	0.455000	0.32223	TAC	OR10K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	A			158436055	1	no_errors	ENST00000289451	ensembl	human	known	70_37	missense	SNP	0.909	G	G	158436055	A	G	158436055	3	3	35	1	0	0	0	0	1	0	0	0	10937	391	14	5	706	5	OR10K1	1	158436055	Missense_Mutation	SNP	A	TCGA-C5-A2M1-01A-11D-A18J-09	8022611	158436055	90814566	8	4913										
VANGL2	57216	genome.wustl.edu	37	chr1	160390959	160390959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggctgagcatgagcgaagggTgcgcaagaggagggccaggt	20	7	0	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:160390959T>C	ENST00000368061.2	+	6	1529	c.1055T>C	c.(1054-1056)gTg>gCg	p.V352A	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	352					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGCGAAGGGTGCGCAAGAGG	0.587																																																	0													65	57	60					1																	160390959		2203	4300	6503	SO:0001583	missense	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1055T>C	1.37:g.160390959T>C	ENSP00000357040:p.Val352Ala		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.V352A	ENST00000368061.2	37	c.1055	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.122134	0.94429	.	.	ENSG00000162738	ENST00000368061	D	0.85013	-1.93	5.48	5.48	0.80851	.	0.064076	0.64402	D	0.000008	D	0.84338	0.5450	M	0.88181	2.935	0.58432	D	0.999999	B	0.33000	0.393	B	0.34652	0.187	D	0.87248	0.2271	10	0.87932	D	0	-22.8245	14.378	0.66892	0.0:0.0:0.0:1.0	.	352	Q9ULK5	VANG2_HUMAN	A	352	ENSP00000357040:V352A	ENSP00000357040:V352A	V	+	2	0	VANGL2	158657583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.627000	0.83176	2.081000	0.62600	0.533000	0.62120	GTG	VANGL2	-	pfam_Strabismus,pirsf_Strabismus		0.587	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	T	NM_020335		160390959	1	no_errors	ENST00000368061	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160390959	T	C	160390959	3	2	35	1	0	0	0	0	1	0	0	0	17151	1696	59	5	1073	5	VANGL2	1	160390959	Missense_Mutation	SNP	T	TCGA-C5-A2M1-01A-11D-A18J-09	1954904	160390959	88859662	9	4914										
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200818630	200818630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	caggagatgttaatgcagatGagagagcaacaatcttgggt	13	5	1	4			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:200818630G>A	ENST00000236925.4	+	12	2815	c.2766G>A	c.(2764-2766)atG>atA	p.M922I	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.M895I|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.M911I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	922					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TAATGCAGATGAGAGAGCAAC	0.418																																																	0													125	133	130					1																	200818630		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2766G>A	1.37:g.200818630G>A	ENSP00000236925:p.Met922Ile		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.M922I	ENST00000236925.4	37	c.2766		1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243499	0.79912	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14640	2.5;2.49;2.5	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.53249	1.67	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.909	D;D;P	0.77557	0.99;0.918;0.554	T	0.00408	-1.1758	10	0.35671	T	0.21	-29.2429	19.9197	0.97082	0.0:0.0:1.0:0.0	.	895;922;911	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	I	911;895;922	ENSP00000351684:M911I;ENSP00000416800:M895I;ENSP00000236925:M922I	ENSP00000236925:M922I	M	+	3	0	CAMSAP1L1	199085253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.840000	0.99478	2.702000	0.92279	0.655000	0.94253	ATG	CAMSAP2	-	NULL		0.418	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	G	NM_203459		200818630	1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	A	A	200818630	G	A	200818630	3	1	35	1	0	0	0	0	1	0	0	0	2617	1290	45	1	2775	1	CAMSAP1L1	1	200818630	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	40427671	200818630	48431991	10	4915										
CENPF	1063	genome.wustl.edu	37	chr1	214820477	214820477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	agaaactggagaagaaggatGaagaaatcagtagactgaaa	12	3	1	7			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:214820477G>A	ENST00000366955.3	+	13	7732	c.7564G>A	c.(7564-7566)Gaa>Aaa	p.E2522K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2618	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAAGGATGAAGAAATCAG	0.403																																					Colon(80;575 1284 11000 14801 43496)												0													81	87	85					1																	214820477		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7564G>A	1.37:g.214820477G>A	ENSP00000355922:p.Glu2522Lys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E2522K	ENST00000366955.3	37	c.7564	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853067	0.32699	.	.	ENSG00000117724	ENST00000366955	T	0.03212	4.01	5.34	4.42	0.53409	.	0.230767	0.22375	N	0.060899	T	0.04679	0.0127	L	0.50333	1.59	0.23056	N	0.99837	B	0.24721	0.11	B	0.19148	0.024	T	0.29518	-1.0009	10	0.37606	T	0.19	.	10.2923	0.43603	0.0779:0.1446:0.7775:0.0	.	2618	P49454	CENPF_HUMAN	K	2522	ENSP00000355922:E2522K	ENSP00000355922:E2522K	E	+	1	0	CENPF	212887100	0.715000	0.27946	0.988000	0.46212	0.978000	0.69477	0.868000	0.27982	1.366000	0.46076	0.609000	0.83330	GAA	CENPF	-	NULL		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214820477	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.835	A	A	214820477	G	A	214820477	3	1	35	1	0	0	0	0	1	0	0	0	3236	1291	45	1	7610	1	CENPF	1	214820477	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	14001847	214820477	34430144	11	4916										
ZNF238	10472	genome.wustl.edu	37	chr1	244217802	244217802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtcacctccgtgagggattcGgcagatgttgactgtgtgct	14	9	1	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:244217802G>A	ENST00000358704.4	+	2	875	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	233				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAGGGATTCGGCAGATGTTG	0.527																																																	0													78	89	85					1																	244217802		2203	4300	6503	SO:0001819	synonymous_variant	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.726G>A	1.37:g.244217802G>A			A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S242	ENST00000358704.4	37	c.726	CCDS1622.1	1																																																																																			ZNF238	-	NULL		0.527	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217802	1	no_errors	ENST00000358704	ensembl	human	known	70_37	silent	SNP	0.964	A	A	244217802	G	A	244217802	2	1	35	1	0	0	0	0	0	0	0	1	17820	1103	39	2		2	ZNF238	1	244217802	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	29397325	244217802	5032819	12	4917										
OR11L1	391189	genome.wustl.edu	37	chr1	248004471	248004471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gagtgacaacagccaggtggGagccacatgtggaaaaggtc	15	8	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:248004471G>A	ENST00000355784.2	-	1	783	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	243						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCCAGGTGGGAGCCACATGT	0.488																																																	0													107	105	106					1																	248004471		2203	4300	6503	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.728C>T	1.37:g.248004471G>A	ENSP00000348033:p.Ser243Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S243F	ENST00000355784.2	37	c.728	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788857	0.70337	.	.	ENSG00000197591	ENST00000355784	T	0.39056	1.1	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.241139	0.21383	U	0.075428	T	0.70579	0.3240	M	0.88842	2.985	0.34927	D	0.74903	D	0.89917	1.0	D	0.91635	0.999	T	0.82493	-0.0430	10	0.87932	D	0	.	17.171	0.86830	0.0:0.0:1.0:0.0	.	243	Q8NGX0	O11L1_HUMAN	F	243	ENSP00000348033:S243F	ENSP00000348033:S243F	S	-	2	0	OR11L1	246071094	0.921000	0.31238	0.997000	0.53966	0.905000	0.53344	5.397000	0.66302	2.465000	0.83290	0.543000	0.68304	TCC	OR11L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	G	NM_001001959		248004471	-1	no_errors	ENST00000355784	ensembl	human	known	70_37	missense	SNP	0.998	A	A	248004471	G	A	248004471	3	1	35	1	0	0	0	0	1	0	0	0	10954	1174	41	1	244	1	OR11L1	1	248004471	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	3786669	248004471	1246150	13	4918										
RGPD4	285190	genome.wustl.edu	37	chr2	108479165	108479165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tgcccctggagtctgtaaaaGagatgcttaagtcagtcatg	11	8	3	1	rs200602090	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:108479165G>C	ENST00000408999.3	+	16	2310	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E745Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	745					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTCTGTAAAAGAGATGCTTAA	0.338													-|||	794	0.158546	0.1127	0.1715	5008	,	,		10608	0.0179		0.2793	False		,,,				2504	0.2321																0													5	11	9					2																	108479165		394	1012	1406	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2233G>C	2.37:g.108479165G>C	ENSP00000386810:p.Glu745Gln		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E745Q	ENST00000408999.3	37	c.2233	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	6.720	0.501551	0.12822	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.24908	1.83;1.83	2.3	2.3	0.28687	.	.	.	.	.	T	0.22205	0.0535	M	0.62723	1.935	0.39301	P	0.03509899999999999	P	0.39022	0.655	B	0.27380	0.079	T	0.41052	-0.9530	8	0.49607	T	0.09	-11.6791	11.5619	0.50782	0.0:0.0:1.0:0.0	.	745	Q7Z3J3	RGPD4_HUMAN	Q	745;745;503	ENSP00000347081:E745Q;ENSP00000386810:E745Q	ENSP00000347081:E745Q	E	+	1	0	RGPD4	107845597	1.000000	0.71417	0.999000	0.59377	0.379000	0.30106	6.909000	0.75735	1.299000	0.44798	0.152000	0.16155	GAG	RGPD4	-	NULL		0.338	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108479165	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108479165	G	C	108479165	3	2	35	1	0	0	0	0	1	0	0	0	13318	943	33	1	2295	1	RGPD4	2	108479165	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		108479165	134720208	14	4919										
MERTK	10461	genome.wustl.edu	37	chr2	112761481	112761481	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggtgttctttcacttcacagGagagtttgggtctgtaatgg	13	6	4	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:112761481G>T	ENST00000295408.4	+	13	2044	c.1787G>T	c.(1786-1788)gGa>gTa	p.G596V	MERTK_ENST00000409780.1_Splice_Site_p.G420V|MERTK_ENST00000421804.2_Splice_Site_p.G596V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACTTCACAGGAGAGTTTGGG	0.458																																																	0													175	155	162					2																	112761481		2203	4300	6503	SO:0001630	splice_region_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1787-1G>T	2.37:g.112761481G>T			Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G596V	ENST00000295408.4	37	c.1787	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179980	0.78564	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.94862	-3.54;-3.54;-3.54	5.22	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32518	U	0.005990	D	0.98689	0.9560	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99264	1.0891	9	.	.	.	.	16.0522	0.80772	0.0:0.0:1.0:0.0	.	596	Q12866	MERTK_HUMAN	V	596;596;238;420	ENSP00000295408:G596V;ENSP00000389152:G596V;ENSP00000387277:G420V	.	G	+	2	0	MERTK	112477952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.845000	0.86875	2.595000	0.87683	0.637000	0.83480	GGA	MERTK	-	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,pfscan_Prot_kinase_cat_dom		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	G		Missense_Mutation	112761481	1	no_errors	ENST00000295408	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112761481	G	T	112761481	5	4	35	1	0	0	0	0	0	0	1	0	9502	1188	41	3	1837	3	MERTK	2	112761481	Splice_Site	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	4282316	112761481	130437892	15	4920										
SAP130	79595	genome.wustl.edu	37	chr2	128774091	128774091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aggtggagcaggagcaatggGacggctaggcatggtgggct	20	6	0	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:128774091G>A	ENST00000259235.3	-	4	586	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	SAP130_ENST00000259234.6_Missense_Mutation_p.P127S|SAP130_ENST00000357702.5_Missense_Mutation_p.P153S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	153	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAGCAATGGGACGGCTAGGC	0.522																																																	0													97	97	97					2																	128774091		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.457C>T	2.37:g.128774091G>A	ENSP00000259235:p.Pro153Ser		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.P153S	ENST00000259235.3	37	c.457	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294748	0.81025	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	6.07	6.07	0.98685	.	0.048670	0.85682	D	0.000000	T	0.64605	0.2613	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.66351	0.898;0.943;0.898	T	0.55915	-0.8065	9	0.19147	T	0.46	-17.9101	20.6439	0.99570	0.0:0.0:1.0:0.0	.	153;127;153	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	S	153;153;127;127	.	ENSP00000259234:P127S	P	-	1	0	SAP130	128490561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.260000	0.95568	2.884000	0.98904	0.655000	0.94253	CCC	SAP130	-	NULL		0.522	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128774091	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128774091	G	A	128774091	3	1	35	1	0	0	0	0	1	0	0	0	13861	1174	41	1	2866	1	SAP130	2	128774091	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	16012610	128774091	114425282	16	4921										
ALS2CR11	151254	genome.wustl.edu	37	chr2	202352336	202352336	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acaaatgagcgaacatttttCaatatcctcttttaattttt	3	7	2	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:202352336C>T	ENST00000286195.3	-	15	1915	c.1871G>A	c.(1870-1872)tGa>tAa	p.*624*	ALS2CR11_ENST00000439140.1_Silent_p.*1821*|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	0										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GAACATTTTTCAATATCCTCT	0.313																																																	0													76	76	76					2																	202352336		2203	4300	6503	SO:0001819	synonymous_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1871G>A	2.37:g.202352336C>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.*624	ENST00000286195.3	37	c.1871	CCDS2349.1	2																																																																																			ALS2CR11	-	NULL		0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202352336	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	silent	SNP	0.945	T	T	202352336	C	T	202352336	2	4	35	1	0	0	0	0	0	0	0	1	552	837	29	1		1	ALS2CR11	2	202352336	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	73578245	202352336	40847037	17	4922										
SLC19A3	80704	genome.wustl.edu	37	chr2	228563510	228563510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	atggaagaatcttgggatggCgccttgtaatcccacaggat	12	8	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:228563510C>T	ENST00000258403.3	-	3	992	c.921G>A	c.(919-921)gcG>gcA	p.A307A	SLC19A3_ENST00000541617.1_Silent_p.A303A|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	307					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTTGGGATGGCGCCTTGTAAT	0.448																																																	0													69	71	70					2																	228563510		2203	4300	6503	SO:0001819	synonymous_variant	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.921G>A	2.37:g.228563510C>T				Silent	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.A307	ENST00000258403.3	37	c.921	CCDS2468.1	2																																																																																			SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.448	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	C			228563510	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	silent	SNP	0.991	T	T	228563510	C	T	228563510	2	4	35	1	0	0	0	0	0	0	0	1	14460	755	27	2		2	SLC19A3	2	228563510	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	26211174	228563510	14635863	18	4923										
CNTN4	152330	genome.wustl.edu	37	chr3	3084769	3084769	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	taaaaggcagtgtgctgtatCacttagctgtcaaggcatat	10	7	2	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:3084769C>T	ENST00000397461.1	+	21	3004	c.2620C>T	c.(2620-2622)Cac>Tac	p.H874Y	CNTN4_ENST00000427331.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000418658.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000448906.2_Missense_Mutation_p.H546Y|CNTN4_ENST00000358480.3_Missense_Mutation_p.H655Y|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.H546Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	874	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.H546Y(1)|p.H874Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGCTGTATCACTTAGCTGT	0.418																																																	2	Substitution - Missense(2)	lung(2)											110	103	106					3																	3084769		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2620C>T	3.37:g.3084769C>T	ENSP00000380602:p.His874Tyr		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H874Y	ENST00000397461.1	37	c.2620	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599616	0.13939	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.195957	0.45606	D	0.000348	T	0.30947	0.0781	N	0.03268	-0.37	0.49389	D	0.999782	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.14172	-1.0482	9	.	.	.	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	873;874	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Y	874;874;874;655;546;546	ENSP00000396010:H874Y;ENSP00000380602:H874Y;ENSP00000413642:H874Y;ENSP00000351267:H655Y;ENSP00000380600:H546Y;ENSP00000392077:H546Y	.	H	+	1	0	CNTN4	3059769	0.999000	0.42202	0.799000	0.32177	0.992000	0.81027	2.899000	0.48679	2.503000	0.84419	0.655000	0.94253	CAC	CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	C			3084769	1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3084769	C	T	3084769	3	4	35	1	0	0	0	0	1	0	0	0	3648	826	29	1	2694	1	CNTN4	3	3084769	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		3084769	194937661	19	4924										
KCNH8	131096	genome.wustl.edu	37	chr3	19295170	19295170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	caacttcatccttgccaatgCccaggtggctaagggtttcc	9	13	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:19295170C>T	ENST00000328405.2	+	2	367	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	34	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTGCCAATGCCCAGGTGGCT	0.428																																					NSCLC(124;1625 1765 8018 24930 42026)												0													167	168	168					3																	19295170		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.101C>T	3.37:g.19295170C>T	ENSP00000328813:p.Ala34Val		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.A34V	ENST00000328405.2	37	c.101	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.561769	0.96527	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.58	5.58	0.84498	.	0.000000	0.31392	U	0.007734	D	0.99492	0.9819	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	D	0.98530	1.0627	9	.	.	.	.	19.5716	0.95423	0.0:1.0:0.0:0.0	.	34;34	B7Z398;Q96L42	.;KCNH8_HUMAN	V	34	ENSP00000328813:A34V	.	A	+	2	0	KCNH8	19270174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.611000	0.88343	0.655000	0.94253	GCC	KCNH8	-	NULL		0.428	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	C	NM_144633		19295170	1	no_errors	ENST00000328405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19295170	C	T	19295170	3	4	35	1	0	0	0	0	1	0	0	0	8058	739	26	4	107	4	KCNH8	3	19295170	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	16210401	19295170	178727260	20	4925										
VIPR1	7433	genome.wustl.edu	37	chr3	42576527	42576527	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggagtacactacatcatgttCgccttctttccggacaattt	7	11	2	0	rs371839610		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:42576527C>T	ENST00000325123.4	+	11	1184	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000543411.1_Silent_p.F309F|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Silent_p.F147F|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.F316F|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	357					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACATCATGTTCGCCTTCTTTC	0.522																																																	0								C		0,4406		0,0,2203	193	162	172		1071	-7.8	0.6	3		172	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VIPR1	NM_004624.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		357/458	42576527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7433			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1071C>T	3.37:g.42576527C>T			A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.F357	ENST00000325123.4	37	c.1071	CCDS2698.1	3																																																																																			VIPR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.522	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	C	NM_004624		42576527	1	no_errors	ENST00000325123	ensembl	human	known	70_37	silent	SNP	0.130	T	T	42576527	C	T	42576527	2	4	35	1	0	0	0	0	0	0	0	1	17200	883	31	1		1	VIPR1	3	42576527	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	23281357	42576527	155445903	21	4926										
CCDC13	152206	genome.wustl.edu	37	chr3	42777313	42777313	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ctccgctgagcctcgctgttCagttgctggtccaggtggtg	14	12	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:42777313C>G	ENST00000310232.6	-	10	1340	c.1257G>C	c.(1255-1257)ctG>ctC	p.L419L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	419								p.L419L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCTCGCTGTTCAGTTGCTGGT	0.622																																																	1	Substitution - coding silent(1)	urinary_tract(1)											96	76	83					3																	42777313		2203	4300	6503	SO:0001819	synonymous_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1257G>C	3.37:g.42777313C>G				Silent	SNP	superfamily_Prefoldin	p.L419	ENST00000310232.6	37	c.1257	CCDS2705.1	3																																																																																			CCDC13	-	NULL		0.622	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	C	NM_144719		42777313	-1	no_errors	ENST00000310232	ensembl	human	known	70_37	silent	SNP	0.011	G	G	42777313	C	G	42777313	2	3	35	1	0	0	0	0	0	0	0	1	2770	813	29	1		1	CCDC13	3	42777313	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	200786	42777313	155245117	22	4927										
FYCO1	79443	genome.wustl.edu	37	chr3	46009302	46009302	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	agctgccgggtcagagacctGacctcctgctccagcagctc	11	16	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:46009302G>T	ENST00000296137.2	-	8	1729	c.1524C>A	c.(1522-1524)gtC>gtA	p.V508V	FYCO1_ENST00000535325.1_Silent_p.V508V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	508					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCAGAGACCTGACCTCCTGCT	0.592																																																	0													93	98	96					3																	46009302		2203	4300	6503	SO:0001819	synonymous_variant	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1524C>A	3.37:g.46009302G>T			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.V508	ENST00000296137.2	37	c.1524	CCDS2734.1	3																																																																																			FYCO1	-	superfamily_Prefoldin		0.592	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	G	NM_024513		46009302	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	silent	SNP	0.036	T	T	46009302	G	T	46009302	2	4	35	1	0	0	0	0	0	0	0	1	6143	1277	45	3		3	FYCO1	3	46009302	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	3231989	46009302	152013128	23	4928										
PTPN23	25930	genome.wustl.edu	37	chr3	47454054	47454054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtgagacacgtggagcaggtCctgcagcgccatggtgtgcc	16	11	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:47454054C>T	ENST00000265562.4	+	24	4445	c.4368C>T	c.(4366-4368)gtC>gtT	p.V1456V	PTPN23_ENST00000431726.1_Silent_p.V1330V	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1456					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAGCAGGTCCTGCAGCGCC	0.622																																																	0													95	85	89					3																	47454054		2203	4300	6503	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4368C>T	3.37:g.47454054C>T			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V1456	ENST00000265562.4	37	c.4368	CCDS2754.1	3																																																																																			PTPN23	-	NULL		0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	C	NM_015466		47454054	1	no_errors	ENST00000265562	ensembl	human	known	70_37	silent	SNP	0.995	T	T	47454054	C	T	47454054	2	4	35	1	0	0	0	0	0	0	0	1	12818	842	30	1		1	PTPN23	3	47454054	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	1444752	47454054	150568376	24	4929										
NCKIPSD	51517	genome.wustl.edu	37	chr3	48719192	48719192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tggacacagagttacccccgGagggcatggtgttgtggcca	15	10	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:48719192G>T	ENST00000294129.2	-	5	739	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S207Y|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.S200Y	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	207	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTACCCCCGGAGGGCATGGT	0.627																																																	0													19	24	23					3																	48719192		2140	4243	6383	SO:0001583	missense	51517			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.620C>A	3.37:g.48719192G>T	ENSP00000294129:p.Ser207Tyr		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S207Y	ENST00000294129.2	37	c.620	CCDS2776.1	3	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154076	0.38021	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.51325	0.71;1.34;1.32;1.34	4.14	3.25	0.37280	.	0.416177	0.20953	U	0.082703	T	0.37758	0.1015	L	0.36672	1.1	0.21445	N	0.999686	P;P;P	0.47191	0.826;0.826;0.891	P;B;B	0.45037	0.467;0.259;0.444	T	0.12218	-1.0556	10	0.34782	T	0.22	.	7.2134	0.25947	0.0995:0.1946:0.706:0.0	.	207;207;200	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	Y	207;200;207;207;129;91	ENSP00000342621:S207Y;ENSP00000389059:S200Y;ENSP00000294129:S207Y;ENSP00000409675:S207Y	ENSP00000294129:S207Y	S	-	2	0	NCKIPSD	48694196	0.997000	0.39634	0.076000	0.20297	0.048000	0.14542	2.752000	0.47516	0.987000	0.38709	0.462000	0.41574	TCC	NCKIPSD	-	NULL		0.627	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257520.1	G	NM_016453		48719192	-1	no_errors	ENST00000294129	ensembl	human	known	70_37	missense	SNP	0.141	T	T	48719192	G	T	48719192	3	4	35	1	0	0	0	0	1	0	0	0	10249	1174	41	3	1584	3	NCKIPSD	3	48719192	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	1265138	48719192	149303238	25	4930										
PRICKLE2	166336	genome.wustl.edu	37	chr3	64133026	64133026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ctgggtgtctggctggacagGctgagcatgtccatctgcag	15	10	2	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:64133026G>T	ENST00000295902.6	-	7	1725	c.1140C>A	c.(1138-1140)agC>agA	p.S380R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S436R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	380					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGCTGGACAGGCTGAGCATGT	0.602																																																	0													81	89	86					3																	64133026		2203	4300	6503	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1140C>A	3.37:g.64133026G>T	ENSP00000295902:p.Ser380Arg		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S380R	ENST00000295902.6	37	c.1140	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766021	0.31228	.	.	ENSG00000163637	ENST00000295902	T	0.64618	-0.11	5.94	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.62723	1.935	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.74850	-0.3524	10	0.72032	D	0.01	-43.9315	10.4386	0.44450	0.2022:0.0:0.7978:0.0	.	380	Q7Z3G6	PRIC2_HUMAN	R	380	ENSP00000295902:S380R	ENSP00000295902:S380R	S	-	3	2	PRICKLE2	64108066	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.584000	0.46102	0.836000	0.34901	-0.291000	0.09656	AGC	PRICKLE2	-	NULL		0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1	G	NM_198859		64133026	-1	no_errors	ENST00000295902	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64133026	G	T	64133026	3	4	35	1	0	0	0	0	1	0	0	0	12514	1194	42	4	1402	4	PRICKLE2	3	64133026	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	15413834	64133026	133889404	26	4931										
KALRN	8997	genome.wustl.edu	37	chr3	124132404	124132404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acctaaccctggcagaacagCggctgcagcgccacacagaa	10	15	0	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:124132404C>T	ENST00000240874.3	+	14	2585	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KALRN_ENST00000360013.3_Missense_Mutation_p.R810W|KALRN_ENST00000460856.1_Missense_Mutation_p.R810W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	810					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGCAGAACAGCGGCTGCAGCG	0.542																																																	0													124	93	104					3																	124132404		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2428C>T	3.37:g.124132404C>T	ENSP00000240874:p.Arg810Trp		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R810W	ENST00000240874.3	37	c.2428	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034730	0.75617	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.41758	0.99;0.99;0.99	5.65	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.917;0.993;0.996	T	0.60136	-0.7322	10	0.45353	T	0.12	.	13.8089	0.63250	0.3954:0.6046:0.0:0.0	.	810;156;810;810	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	W	810	ENSP00000418611:R810W;ENSP00000240874:R810W;ENSP00000353109:R810W	ENSP00000240874:R810W	R	+	1	2	KALRN	125615094	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.677000	0.25262	1.575000	0.49775	0.655000	0.94253	CGG	KALRN	-	NULL		0.542	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	C	NM_003947		124132404	1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124132404	C	T	124132404	3	4	35	1	0	0	0	0	1	0	0	0	7995	759	27	2	2482	2	KALRN	3	124132404	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	59999378	124132404	73890026	27	4932										
RUVBL1	8607	genome.wustl.edu	37	chr3	127817765	127817765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggcttcattagctggcccatCatggacaggatatcttgtcc	10	11	3	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:127817765C>T	ENST00000322623.5	-	7	876	c.777G>A	c.(775-777)atG>atA	p.M259I	RUVBL1_ENST00000464873.1_Missense_Mutation_p.M199I|RUVBL1_ENST00000417360.1_Missense_Mutation_p.M259I	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	259					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GCTGGCCCATCATGGACAGGA	0.532																																																	0													158	134	142					3																	127817765		2203	4300	6503	SO:0001583	missense	8607			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.777G>A	3.37:g.127817765C>T	ENSP00000318297:p.Met259Ile		B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	p.M259I	ENST00000322623.5	37	c.777	CCDS3047.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.229744|3.229744	0.58777|0.58777	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000472125|ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	.|T;T;T	.|0.62232	.|0.05;0.04;0.46	5.69|5.69	5.69|5.69	0.88448|0.88448	.|TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53417|0.53417	0.1795|0.1795	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.12837	.|0.002;0.008;0.001	T|T	0.43081|0.43081	-0.9413|-0.9413	5|10	.|0.36615	.|T	.|0.2	-11.7387|-11.7387	19.8109|19.8109	0.96545|0.96545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|259;259;199	.|Q9Y265-2;Q9Y265;E7ETR0	.|.;RUVB1_HUMAN;.	N|I	79|199;259;259;58	.|ENSP00000420738:M199I;ENSP00000318297:M259I;ENSP00000393755:M259I	.|ENSP00000318297:M259I	D|M	-|-	1|3	0|0	RUVBL1|RUVBL1	129300455|129300455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.312000|7.312000	0.78968|0.78968	2.691000|2.691000	0.91804|0.91804	0.591000|0.591000	0.81541|0.81541	GAT|ATG	RUVBL1	-	pfam_TIP49_C,smart_AAA+_ATPase		0.532	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2	C			127817765	-1	no_errors	ENST00000322623	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127817765	C	T	127817765	3	4	35	1	0	0	0	0	1	0	0	0	13782	826	29	1	613	1	RUVBL1	3	127817765	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	3685361	127817765	70204665	28	4933										
GFM1	85476	genome.wustl.edu	37	chr3	158399891	158399891	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ctacactaaattggaattttCagatgaaacattcggatcaa	6	7	2	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:158399891C>T	ENST00000486715.1	+	14	2066	c.1709C>T	c.(1708-1710)tCa>tTa	p.S570L	GFM1_ENST00000478576.1_Missense_Mutation_p.S570L|GFM1_ENST00000264263.5_Missense_Mutation_p.S589L	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGGAATTTTCAGATGAAACA	0.358																																																	0													57	57	57					3																	158399891		2203	4300	6503	SO:0001583	missense	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1709C>T	3.37:g.158399891C>T	ENSP00000419038:p.Ser570Leu			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.S570L	ENST00000486715.1	37	c.1709	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792970	0.31685	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.28895	1.59;1.59;1.59	6.03	4.02	0.46733	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	1.277100	0.05135	N	0.493207	T	0.22975	0.0555	L	0.28014	0.82	0.20489	N	0.999892	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.003;0.005;0.005	T	0.18023	-1.0350	10	0.48119	T	0.1	-1.7325	3.9977	0.09566	0.3308:0.4585:0.0:0.2108	.	589;570;570	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	L	570;570;589	ENSP00000419038:S570L;ENSP00000418755:S570L;ENSP00000264263:S589L	ENSP00000264263:S589L	S	+	2	0	GFM1	159882585	0.683000	0.27633	0.146000	0.22360	0.917000	0.54804	1.760000	0.38430	1.558000	0.49541	0.655000	0.94253	TCA	GFM1	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2		0.358	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	C	NM_024996		158399891	1	no_errors	ENST00000486715	ensembl	human	known	70_37	missense	SNP	0.090	T	T	158399891	C	T	158399891	3	4	35	1	0	0	0	0	1	0	0	0	6360	838	29	1	1763	1	GFM1	3	158399891	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	30582126	158399891	39622539	29	4934										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	35	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	20536200	178936091	19086339	30	4935										
TMEM175	84286	genome.wustl.edu	37	chr4	952031	952031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggagcatgtgctcatgttcgCcaagctggcgctgtacccct	12	13	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:952031C>A	ENST00000264771.4	+	11	1447	c.1262C>A	c.(1261-1263)gCc>gAc	p.A421D	TMEM175_ENST00000508204.1_Missense_Mutation_p.A339D|TMEM175_ENST00000515740.1_Missense_Mutation_p.A305D	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	421						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCATGTTCGCCAAGCTGGCG	0.652																																																	0													50	46	47					4																	952031		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1262C>A	4.37:g.952031C>A	ENSP00000264771:p.Ala421Asp		D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.A421D	ENST00000264771.4	37	c.1262	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179226	0.38511	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.52754	1.28;1.23;0.65	4.65	3.79	0.43588	.	0.065062	0.64402	D	0.000010	T	0.63815	0.2543	M	0.68952	2.095	0.49915	D	0.999839	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.64305	-0.6439	10	0.56958	D	0.05	-6.9972	10.6642	0.45719	0.0:0.805:0.195:0.0	.	339;421	D3DVN5;Q9BSA9	.;TM175_HUMAN	D	421;305;339	ENSP00000264771:A421D;ENSP00000427039:A305D;ENSP00000423669:A339D	ENSP00000264771:A421D	A	+	2	0	TMEM175	942031	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	4.486000	0.60286	0.921000	0.36994	-0.479000	0.04858	GCC	TMEM175	-	NULL		0.652	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	C	NM_032326		952031	1	no_errors	ENST00000264771	ensembl	human	known	70_37	missense	SNP	1.000	A	A	952031	C	A	952031	3	1	35	1	0	0	0	0	1	0	0	0	16121	739	26	4	1300	4	TMEM175	4	952031	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		952031	190202245	31	4936										
FGFRL1	53834	genome.wustl.edu	37	chr4	1018825	1018827	+	In_Frame_Del	DEL	AGA	AGA	-													0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cctgtggctttgccaggcccAgaagaagccgtgcacccccg							TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:1018825_1018827delAGA	ENST00000398484.2	+	8	1785_1787	c.1205_1207delAGA	c.(1204-1209)cagaag>cag	p.K404del	FGFRL1_ENST00000264748.6_In_Frame_Del_p.K404del|FGFRL1_ENST00000510644.1_In_Frame_Del_p.K404del|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000504138.1_In_Frame_Del_p.K404del			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	404					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCCAGGCCCAGAAGAAGCCGTG	0.724																																																	0																																										SO:0001651	inframe_deletion	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1205_1207delAGA	4.37:g.1018828_1018830delAGA	ENSP00000381498:p.Lys404del		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K404in_frame_del	ENST00000398484.2	37	c.1205_1207	CCDS3344.1	4																																																																																			FGFRL1	-	NULL		0.724	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	AGA	NM_021923		1018827	1	no_errors	ENST00000264748	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	1018827	AGA	-	1018825	7	5	35	1	0	1	0	1	0	0	0	0	5887	188	7	0	1227	0	FGFRL1	4	1018825	In_Frame_Del	DEL	AGA	TCGA-C5-A2M1-01A-11D-A18J-09	66794	1018825	190135451	32	4937										
POLN	353497	genome.wustl.edu	37	chr4	2176453	2176453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tcagaggaagctccaaagtaCgaaatagttgccataaacca	8	9	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:2176453C>T	ENST00000511885.2	-	10	1627	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	POLN_ENST00000382865.1_Missense_Mutation_p.R425H|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	425			R -> C (in dbSNP:rs9328764). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCCAAAGTACGAAATAGTTG	0.333								DNA polymerases (catalytic subunits)																																									0													63	69	67					4																	2176453		2203	4300	6503	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1274G>A	4.37:g.2176453C>T	ENSP00000435506:p.Arg425His		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.R425H	ENST00000511885.2	37	c.1274	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.41|10.41	1.343124|1.343124	0.24339|0.24339	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.09163|.	3.01;3.01|.	5.64|5.64	3.65|3.65	0.41850|0.41850	.|.	0.376286|.	0.31246|.	N|.	0.007983|.	T|T	0.35422|0.35422	0.0931|0.0931	L|L	0.41710|0.41710	1.295|1.295	0.09310|0.09310	N|N	0.999998|0.999998	P;B;B|.	0.41450|.	0.75;0.297;0.005|.	B;B;B|.	0.31812|.	0.136;0.065;0.004|.	T|T	0.20773|0.20773	-1.0265|-1.0265	10|5	0.17369|.	T|.	0.5|.	0.361|0.361	5.5206|5.5206	0.16931|0.16931	0.0:0.7263:0.0:0.2737|0.0:0.7263:0.0:0.2737	.|.	425;15;425|.	E7ERY2;C9JDP8;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	H|I	425;425;116;15|59	ENSP00000435506:R425H;ENSP00000372316:R425H|.	ENSP00000253313:R116H|.	R|V	-|-	2|1	0|0	POLN|POLN	2146251|2146251	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.922000|0.922000	0.55478|0.55478	1.249000|1.249000	0.32839|0.32839	1.388000|1.388000	0.46506|0.46506	0.462000|0.462000	0.41574|0.41574	CGT|GTA	POLN	-	NULL		0.333	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	C	NM_181808		2176453	-1	no_errors	ENST00000382865	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2176453	C	T	2176453	3	4	35	1	0	0	0	0	1	0	0	0	12231	536	19	2	1496	2	POLN	4	2176453	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	1157628	2176453	188977823	33	4938										
STK32B	55351	genome.wustl.edu	37	chr4	5458637	5458637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtggtgcaaggggatggtggCcctgctgaggaaggtaaggg	21	5	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:5458637C>G	ENST00000282908.5	+	8	1192	c.770C>G	c.(769-771)gCc>gGc	p.A257G	STK32B_ENST00000510398.1_Missense_Mutation_p.A210G|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.A180G	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGGATGGTGGCCCTGCTGAGG	0.572																																																	0													77	55	63					4																	5458637		2203	4300	6503	SO:0001583	missense	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.770C>G	4.37:g.5458637C>G	ENSP00000282908:p.Ala257Gly			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.A257G	ENST00000282908.5	37	c.770	CCDS3380.1	4	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253986	0.39896	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24538	1.85;1.85;1.85	5.01	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.166261	0.27807	U	0.017778	T	0.16685	0.0401	L	0.27053	0.805	0.38235	D	0.94115	B	0.06786	0.001	B	0.10450	0.005	T	0.08207	-1.0733	10	0.30078	T	0.28	.	9.2809	0.37727	0.1438:0.7781:0.0:0.0781	.	257	Q9NY57	ST32B_HUMAN	G	257;180;210	ENSP00000282908:A257G;ENSP00000423209:A180G;ENSP00000420984:A210G	ENSP00000282908:A257G	A	+	2	0	STK32B	5509538	0.744000	0.28250	0.995000	0.50966	0.791000	0.44710	3.784000	0.55416	0.604000	0.29930	-0.254000	0.11334	GCC	STK32B	-	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		0.572	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	C	NM_018401		5458637	1	no_errors	ENST00000282908	ensembl	human	known	70_37	missense	SNP	0.996	G	G	5458637	C	G	5458637	3	3	35	1	0	0	0	0	1	0	0	0	15328	739	26	4	800	4	STK32B	4	5458637	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	3282184	5458637	185695639	34	4939										
JAKMIP1	152789	genome.wustl.edu	37	chr4	6037659	6037659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cctgctgcagcagctccatgCgctcccgcaggatctggctg	12	16	1	0	rs557871910		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:6037659C>T	ENST00000409021.3	-	19	2800	c.2351G>A	c.(2350-2352)cGc>cAc	p.R784H	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R599H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	152					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCTCCATGCGCTCCCGCAG	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		17395	0		0	False		,,,				2504	0																0													9	13	11					4																	6037659		1999	3857	5856	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2351G>A	4.37:g.6037659C>T	ENSP00000386711:p.Arg784His		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.R784H	ENST00000409021.3	37	c.2351	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.177430	0.94846	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341	T;T	0.39997	1.49;1.05	4.86	4.86	0.63082	.	0.000000	0.51477	U	0.000082	T	0.64832	0.2634	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.65639	-0.6119	9	0.40728	T	0.16	.	16.9886	0.86347	0.0:1.0:0.0:0.0	.	599;784	Q96N16-5;Q96N16-2	.;.	H	784;599;522	ENSP00000386711:R784H;ENSP00000387042:R599H	ENSP00000386711:R784H	R	-	2	0	JAKMIP1	6088560	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.319000	0.79040	2.254000	0.74563	0.491000	0.48974	CGC	JAKMIP1	-	NULL		0.672	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	C	NM_144720		6037659	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6037659	C	T	6037659	3	4	35	1	0	0	0	0	1	0	0	0	7960	768	27	2	156	2	JAKMIP1	4	6037659	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	579022	6037659	185116617	35	4940										
ANK2	287	genome.wustl.edu	37	chr4	114279594	114279594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cagataggggtgatgattctCccgattcttccccagaagaa	10	10	2	5			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:114279594C>A	ENST00000357077.4	+	38	9873	c.9820C>A	c.(9820-9822)Ccc>Acc	p.P3274T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3241T|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3274					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGATGATTCTCCCGATTCTTC	0.443																																																	0													102	99	100					4																	114279594		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9820C>A	4.37:g.114279594C>A	ENSP00000349588:p.Pro3274Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P3274T	ENST00000357077.4	37	c.9820	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995829	0.35226	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96300	-0.37;-0.38;-3.97	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000018	D	0.97707	0.9248	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.91635	0.814;0.999	D	0.96272	0.9199	10	0.22706	T	0.39	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	3241;3274	Q01484;Q01484-4	ANK2_HUMAN;.	T	3274;3241;284	ENSP00000349588:P3274T;ENSP00000264366:P3241T;ENSP00000422498:P284T	ENSP00000264366:P3241T	P	+	1	0	ANK2	114499043	1.000000	0.71417	0.994000	0.49952	0.136000	0.21042	4.333000	0.59285	2.746000	0.94184	0.655000	0.94253	CCC	ANK2	-	NULL		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114279594	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114279594	C	A	114279594	3	1	35	1	0	0	0	0	1	0	0	0	621	855	30	3	10035	3	ANK2	4	114279594	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	108241935	114279594	76874682	36	4941										
FAT4	79633	genome.wustl.edu	37	chr4	126372317	126372317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aagaactttggcagcattagAggtgcagatatagatgaggt	13	4	0	5			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:126372317A>G	ENST00000394329.3	+	9	10159	c.10146A>G	c.(10144-10146)agA>agG	p.R3382R	FAT4_ENST00000335110.5_Silent_p.R1680R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3382	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCATTAGAGGTGCAGATA	0.403																																																	0													169	163	165					4																	126372317		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10146A>G	4.37:g.126372317A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3382	ENST00000394329.3	37	c.10146	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126372317	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.038	G	G	126372317	A	G	126372317	2	3	35	1	0	0	0	0	0	0	0	1	5710	301	11	5		5	FAT4	4	126372317	Silent	SNP	A	TCGA-C5-A2M1-01A-11D-A18J-09	12092723	126372317	64781959	37	4942										
LARP1B	55132	genome.wustl.edu	37	chr4	129012266	129012266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtcgaggaagaggccgaggaCggggaagaggacgaggcaga	21	6	0	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:129012266C>T	ENST00000326639.6	+	6	680	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LARP1B_ENST00000264584.5_Missense_Mutation_p.R110W|LARP1B_ENST00000441387.1_Missense_Mutation_p.R157W|LARP1B_ENST00000394288.3_Missense_Mutation_p.R157W|LARP1B_ENST00000427266.1_Missense_Mutation_p.R157W|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Missense_Mutation_p.R157W|LARP1B_ENST00000512292.1_Missense_Mutation_p.R157W	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	157	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AGGCCGAGGACGGGGAAGAGG	0.413																																																	0													130	140	136					4																	129012266		2203	4300	6503	SO:0001583	missense	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.469C>T	4.37:g.129012266C>T	ENSP00000321997:p.Arg157Trp		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.R157W	ENST00000326639.6	37	c.469	CCDS3738.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.512244|3.512244	0.64522|0.64522	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T;T;T|.	0.56103|.	1.63;1.13;1.17;0.51;0.48;1.63;1.59;1.15|.	3.69|3.69	2.84|2.84	0.33178|0.33178	.|.	0.076695|.	0.52532|.	D|.	0.000061|.	T|T	0.58004|0.58004	0.2092|0.2092	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.79784|.	0.993;0.973;0.973;0.984|.	T|T	0.54397|0.54397	-0.8300|-0.8300	10|5	0.66056|.	D|.	0.02|.	.|.	4.8923|4.8923	0.13733|0.13733	0.2749:0.6119:0.0:0.1132|0.2749:0.6119:0.0:0.1132	.|.	157;157;157;157|.	Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.	LAR1B_HUMAN;.;.;.|.	W|M	157;157;110;157;157;110;157;157|125	ENSP00000321997:R157W;ENSP00000422850:R157W;ENSP00000427281:R110W;ENSP00000377829:R157W;ENSP00000390395:R157W;ENSP00000264584:R110W;ENSP00000396521:R157W;ENSP00000403586:R157W|.	ENSP00000264584:R110W|.	R|T	+|+	1|2	2|0	LARP1B|LARP1B	129231716|129231716	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	0.830000|0.830000	0.27462|0.27462	0.891000|0.891000	0.36235|0.36235	0.491000|0.491000	0.48974|0.48974	CGG|ACG	LARP1B	-	NULL		0.413	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	C	NM_018078		129012266	1	no_errors	ENST00000326639	ensembl	human	known	70_37	missense	SNP	0.987	T	T	129012266	C	T	129012266	3	4	35	1	0	0	0	0	1	0	0	0	8649	527	19	2	483	2	LARP1B	4	129012266	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	2639949	129012266	62142010	38	4943										
DCHS2	54798	genome.wustl.edu	37	chr4	155161743	155161743	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tcattgacatccagcacacgGactacaagtgctccctctgt	7	14	2	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:155161743G>T	ENST00000357232.4	-	23	5939	c.5940C>A	c.(5938-5940)gtC>gtA	p.V1980V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1980	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGCACACGGACTACAAGTG	0.408																																																	0													92	87	89					4																	155161743		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5940C>A	4.37:g.155161743G>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V1980	ENST00000357232.4	37	c.5940	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155161743	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.681	T	T	155161743	G	T	155161743	2	4	35	1	0	0	0	0	0	0	0	1	4293	1161	41	3		3	DCHS2	4	155161743	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	26149477	155161743	35992533	39	4944										
NIPBL	25836	genome.wustl.edu	37	chr5	37006623	37006624	+	Nonsense_Mutation	DNP	TA	TA	AT													0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gaaagagttatacagtacacTaaatttcatttgcagaatac							TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:37006623_37006624TA>AT	ENST00000282516.8	+	17	4519_4520	c.4020_4021TA>AT	c.(4018-4023)acTAaa>acATaa	p.K1341*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.K1341*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1341					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TACAGTACACTAAATTTCATTT	0.337																																																	0																																										SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	Exception_encountered	5.37:g.37006623_37006624delinsAT	ENSP00000282516:p.Lys1341*		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent|Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.T1340|p.K1341*	ENST00000282516.8	37	c.4020|c.4021	CCDS3920.1	5																																																																																			NIPBL	-	NULL		0.337	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	T|A	NM_015384		37006623|37006624	1	no_errors	ENST00000282516	ensembl	human	known	70_37	silent|nonsense	SNP	1.000	A|T	AT	37006624	TA	AT	37006623	4	1	35	1	0	0	0	0	0	1	0	0	10452	1509	53	5	4082	5	NIPBL	5	37006623	Nonsense_Mutation	DNP	TA	TCGA-C5-A2M1-01A-11D-A18J-09		37006623	143908637	40	4945										
BDP1	55814	genome.wustl.edu	37	chr5	70806373	70806373	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tggaagaaactggaagaagaGaaatatccccagaggaaaat	11	5	0	4			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:70806373G>A	ENST00000358731.4	+	17	3717	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1152	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGGAAGAAGAGAAATATCCCC	0.473																																																	0													82	83	83					5																	70806373		1845	4081	5926	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3454G>A	5.37:g.70806373G>A	ENSP00000351575:p.Glu1152Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1152K	ENST00000358731.4	37	c.3454	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106545	0.37145	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.05319	3.46	3.29	3.29	0.37713	.	0.770342	0.10595	U	0.656357	T	0.13970	0.0338	M	0.61703	1.905	0.50467	D	0.999871	D;D;D	0.54207	0.965;0.965;0.965	P;P;P	0.52793	0.709;0.709;0.709	T	0.08764	-1.0706	10	0.27785	T	0.31	.	10.3362	0.43852	0.0:0.0:1.0:0.0	.	1152;1152;1152	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	1152;732	ENSP00000351575:E1152K	ENSP00000351575:E1152K	E	+	1	0	BDP1	70842129	0.000000	0.05858	0.274000	0.24659	0.057000	0.15508	-0.018000	0.12568	2.140000	0.66376	0.205000	0.17691	GAA	BDP1	-	NULL		0.473	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70806373	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.368	A	A	70806373	G	A	70806373	3	1	35	1	0	0	0	0	1	0	0	0	1396	943	33	1	3520	1	BDP1	5	70806373	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	33799750	70806373	110108887	41	4946										
VCAN	1462	genome.wustl.edu	37	chr5	82807996	82807996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aagagtgtgaaaaccaggatGccaggctggcaacagtgggg	16	7	0	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:82807996G>T	ENST00000265077.3	+	6	1388	c.823G>T	c.(823-825)Gcc>Tcc	p.A275S	VCAN_ENST00000342785.4_Missense_Mutation_p.A275S|VCAN_ENST00000512590.2_Missense_Mutation_p.A227S|VCAN_ENST00000513984.1_Missense_Mutation_p.A275S|VCAN_ENST00000502527.2_Missense_Mutation_p.A275S|VCAN_ENST00000343200.5_Missense_Mutation_p.A275S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	275	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACCAGGATGCCAGGCTGGC	0.547																																																	0													67	60	63					5																	82807996		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.823G>T	5.37:g.82807996G>T	ENSP00000265077:p.Ala275Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.A275S	ENST00000265077.3	37	c.823	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	9.480	1.098024	0.20552	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.49	4.52	0.55395	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.991707	0.08184	N	0.985030	T	0.28499	0.0705	L	0.50847	1.595	0.09310	N	1	B;B;B;P;P	0.49185	0.433;0.136;0.176;0.514;0.92	B;B;B;P;P	0.54026	0.203;0.236;0.095;0.62;0.74	T	0.13098	-1.0522	10	0.51188	T	0.08	.	7.61	0.28124	0.1544:0.0:0.7142:0.1314	.	275;275;275;275;275	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	S	275;275;275;227;275;275;275	ENSP00000265077:A275S;ENSP00000340062:A275S;ENSP00000342768:A275S;ENSP00000425959:A227S;ENSP00000426251:A275S;ENSP00000426715:A275S;ENSP00000421362:A275S	ENSP00000265077:A275S	A	+	1	0	VCAN	82843752	0.432000	0.25554	0.002000	0.10522	0.017000	0.09413	3.435000	0.52849	1.148000	0.42385	0.563000	0.77884	GCC	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.547	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82807996	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.003	T	T	82807996	G	T	82807996	3	4	35	1	0	0	0	0	1	0	0	0	17169	1319	46	4	841	4	VCAN	5	82807996	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	12001623	82807996	98107264	42	4947										
RAPGEF6	51735	genome.wustl.edu	37	chr5	130883758	130883758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acagaaagatagctgttaacCtccacatcatcagtaatggt	7	9	2	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:130883758C>T	ENST00000509018.1	-	6	682	c.477G>A	c.(475-477)gaG>gaA	p.E159E	RAPGEF6_ENST00000296859.6_Silent_p.E159E|RAPGEF6_ENST00000307984.5_Silent_p.E159E|RAPGEF6_ENST00000308008.6_Silent_p.E159E|RAPGEF6_ENST00000507093.1_Silent_p.E159E|RAPGEF6_ENST00000510071.1_Silent_p.E159E|CTC-432M15.3_ENST00000514667.1_Silent_p.E209E|RAPGEF6_ENST00000503398.2_5'Flank	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	159					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGCTGTTAACCTCCACATCAT	0.328																																					Melanoma(168;435 1955 13113 13877 23213)												0													145	142	143					5																	130883758		2203	4300	6503	SO:0001819	synonymous_variant	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.477G>A	5.37:g.130883758C>T			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E159	ENST00000509018.1	37	c.477	CCDS34225.1	5																																																																																			RAPGEF6	-	NULL		0.328	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	C	NM_016340		130883758	-1	no_errors	ENST00000509018	ensembl	human	known	70_37	silent	SNP	0.460	T	T	130883758	C	T	130883758	2	4	35	1	0	0	0	0	0	0	0	1	13078	680	24	4		4	RAPGEF6	5	130883758	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	48075762	130883758	50031502	43	4948										
FAM13B	51306	genome.wustl.edu	37	chr5	137323274	137323274	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aagatcaaaaaggtgctgttCcacagctgctctaattgttc	8	9	2	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:137323274C>A	ENST00000033079.3	-	9	1373	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	FAM13B_ENST00000420893.2_Nonsense_Mutation_p.E308*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.E190*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	308					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGGTGCTGTTCCACAGCTGCT	0.358																																																	0													115	101	106					5																	137323274		2203	4300	6503	SO:0001587	stop_gained	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.922G>T	5.37:g.137323274C>A	ENSP00000033079:p.Glu308*		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E308*	ENST00000033079.3	37	c.922	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	41	9.023840	0.99040	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.38	5.38	0.77491	.	0.060605	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-12.09	17.668	0.88208	0.0:1.0:0.0:0.0	.	.	.	.	X	308;190;308	.	ENSP00000033079:E308X	E	-	1	0	FAM13B	137351173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.749000	0.62155	2.674000	0.91012	0.650000	0.86243	GAA	FAM13B	-	NULL		0.358	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	C			137323274	-1	no_errors	ENST00000033079	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	137323274	C	A	137323274	4	1	35	1	0	0	0	0	0	1	0	0	5468	864	30	3	1955	3	FAM13B	5	137323274	Nonsense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	6439516	137323274	43591986	44	4949										
CNOT8	9337	genome.wustl.edu	37	chr5	154242942	154242943	+	Frame_Shift_Ins	INS	-	-	TTATA													0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gaaatcgtgctcagttacagINSttatattgccatggtaagga							TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:154242942_154242943insTTATA	ENST00000517876.1	+	3	580_581	c.104_105insTTATA	c.(103-108)agttatfs	p.-37fs	CNOT8_ENST00000519404.1_Frame_Shift_Ins_p.-37fs|CNOT8_ENST00000521583.1_Intron|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000403027.2_Frame_Shift_Ins_p.-37fs|CNOT8_ENST00000285896.6_Frame_Shift_Ins_p.-37fs|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000520671.1_Intron			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCAGTTACAGTTATATTGCCA	0.475																																					NSCLC(140;1804 1895 27149 29895 35312)												0																																										SO:0001589	frameshift_variant	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.105_109dupTTATA	5.37:g.154242943_154242947dupTTATA	ENSP00000430493:p.Ile37fs		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Frame_Shift_Ins	INS	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.A38fs	ENST00000517876.1	37	c.104_105	CCDS4329.1	5																																																																																			CNOT8	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.475	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	-	NM_004779		154242943	1	no_errors	ENST00000285896	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TTATA	TTATA	154242943	-	TTATA	154242942	7	5	35	1	0	1	1	0	0	0	0	0	3630	1029	36	0	106	0	CNOT8	5	154242942	Frame_Shift_Ins	INS	-	TCGA-C5-A2M1-01A-11D-A18J-09	16919668	154242942	26672318	45	4950										
DSP	1832	genome.wustl.edu	37	chr6	7566637	7566637	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tgagtcaactggaagttaaaGaaaaagagctcaataagctg	10	5	2	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:7566637G>C	ENST00000379802.3	+	8	1308	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	DSP_ENST00000418664.2_Missense_Mutation_p.E323Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	323	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAAGTTAAAGAAAAAGAGCT	0.378																																																	0													119	115	116					6																	7566637		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.967G>C	6.37:g.7566637G>C	ENSP00000369129:p.Glu323Gln		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E323Q	ENST00000379802.3	37	c.967	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.105229	0.94245	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.89123	-2.47;-2.47	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000005	D	0.91905	0.7437	L	0.49256	1.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.90705	0.4623	10	0.44086	T	0.13	.	19.5444	0.95285	0.0:0.0:1.0:0.0	.	370;323	Q4LE79;P15924	.;DESP_HUMAN	Q	323;323;128	ENSP00000369129:E323Q;ENSP00000396591:E323Q	ENSP00000369129:E323Q	E	+	1	0	DSP	7511636	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.992000	0.93519	2.683000	0.91414	0.655000	0.94253	GAA	DSP	-	smart_Spectrin/alpha-actinin		0.378	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	G	NM_004415		7566637	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7566637	G	C	7566637	3	2	35	1	0	0	0	0	1	0	0	0	4791	943	33	1	997	1	DSP	6	7566637	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		7566637	163548430	46	4951										
HIST1H3C	8352	genome.wustl.edu	37	chr6	26045675	26045675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aaacagctcgcaagtctaccGgcggcaaagctccgcgcaag	11	14	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:26045675G>T	ENST00000540144.1	+	1	37	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	13					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CAAGTCTACCGGCGGCAAAGC	0.552																																																	0													43	47	46					6																	26045675		2202	4296	6498	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.37G>T	6.37:g.26045675G>T	ENSP00000439493:p.Gly13Cys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G13C	ENST00000540144.1	37	c.37	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269595	0.40095	.	.	ENSG00000196532	ENST00000540144	T	0.50277	0.75	4.52	4.52	0.55395	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.49051	D	0.999749	.	.	.	.	.	.	T	0.64676	-0.6351	6	0.72032	D	0.01	.	17.1066	0.86665	0.0:0.0:1.0:0.0	.	.	.	.	C	13	ENSP00000439493:G13C	ENSP00000439493:G13C	G	+	1	0	HIST1H3C	26153654	1.000000	0.71417	0.998000	0.56505	0.198000	0.23893	9.694000	0.98686	2.448000	0.82819	0.591000	0.81541	GGC	HIST1H3C	-	superfamily_Histone-fold,prints_Histone_H3		0.552	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	G	NM_003531		26045675	1	no_errors	ENST00000540144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26045675	G	T	26045675	3	4	35	1	0	0	0	0	1	0	0	0	7177	1116	39	2	39	2	HIST1H3C	6	26045675	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	18479038	26045675	145069392	47	4952										
AIF1	199	genome.wustl.edu	37	chr6	31584177	31584177	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gagtccccaagactcacctaGagctaaagaaattaattgga	8	9	1	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:31584177G>C	ENST00000376059.3	+	5	399	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	AIF1_ENST00000376049.4_Missense_Mutation_p.E31Q	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	85	EF-hand 2; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						GACTCACCTAGAGCTAAAGAA	0.537																																					Ovarian(23;358 734 36938 38933 52312)												0													74	75	74					6																	31584177		1511	2709	4220	SO:0001583	missense	199			U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"EF-hand domain containing"	352	protein-coding gene	gene with protein product	"interferon gamma responsive transcript", "ionized calcium-binding adapter molecule 1"	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.253G>C	6.37:g.31584177G>C	ENSP00000365227:p.Glu85Gln		A8K406|O43904|Q9UIV4|Q9UKS9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E85Q	ENST00000376059.3	37	c.253	CCDS4706.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062294	0.76187	.	.	ENSG00000204472	ENST00000376059;ENST00000337917;ENST00000376049	T;T;T	0.52295	0.67;0.67;0.67	4.38	4.38	0.52667	EF-hand-like domain (1);	0.000000	0.64402	D	0.000007	T	0.65698	0.2716	M	0.85373	2.75	0.54753	D	0.999986	D;D	0.89917	0.995;1.0	D;D	0.85130	0.909;0.997	T	0.70447	-0.4869	10	0.56958	D	0.05	-22.7691	14.8218	0.70080	0.0:0.0:1.0:0.0	.	97;85	O43904;P55008	.;AIF1_HUMAN	Q	85;99;31	ENSP00000365227:E85Q;ENSP00000338776:E99Q;ENSP00000365217:E31Q	ENSP00000338776:E99Q	E	+	1	0	AIF1	31692156	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.214000	0.77958	2.441000	0.82636	0.591000	0.81541	GAG	AIF1	-	NULL		0.537	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIF1	HGNC	protein_coding	OTTHUMT00000076512.3	G			31584177	1	no_errors	ENST00000376059	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31584177	G	C	31584177	3	2	35	1	0	0	0	0	1	0	0	0	424	943	33	1	465	1	AIF1	6	31584177	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	5538502	31584177	139530890	48	4953										
PKHD1	5314	genome.wustl.edu	37	chr6	51503660	51503660	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aaattacctggaggagaagtGacagtaaaaataaagtgcca	10	5	0	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:51503660G>A	ENST00000371117.3	-	64	11768	c.11493C>T	c.(11491-11493)gtC>gtT	p.V3831V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3831					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGAGAAGTGACAGTAAAAA	0.373																																																	0													145	147	147					6																	51503660		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11493C>T	6.37:g.51503660G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.V3831	ENST00000371117.3	37	c.11493	CCDS4935.1	6																																																																																			PKHD1	-	NULL		0.373	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51503660	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.775	A	A	51503660	G	A	51503660	2	1	35	1	0	0	0	0	0	0	0	1	11995	1277	45	1		1	PKHD1	6	51503660	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	19919483	51503660	119611407	49	4954										
HIVEP2	3097	genome.wustl.edu	37	chr6	143081676	143081676	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtcgtcaaagtcatcttcatCttcatcatcatcatcattat	3	11	10	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:143081676C>G	ENST00000367604.1	-	8	6388	c.5749G>C	c.(5749-5751)Gat>Cat	p.D1917H	HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1917H|HIVEP2_ENST00000367603.2_Missense_Mutation_p.D1917H			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1917	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		tcatcttcatcttcatcatca	0.438																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													52	56	54					6																	143081676		2083	4207	6290	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5749G>C	6.37:g.143081676C>G	ENSP00000356576:p.Asp1917His		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1917H	ENST00000367604.1	37	c.5749	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408715	0.83340	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03413	3.94;3.94;3.94	6.16	6.16	0.99307	.	0.148442	0.64402	D	0.000018	T	0.08403	0.0209	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.22871	-1.0204	10	0.87932	D	0	-24.2397	20.4702	0.99162	0.0:1.0:0.0:0.0	.	1917	P31629	ZEP2_HUMAN	H	1917	ENSP00000356576:D1917H;ENSP00000356575:D1917H;ENSP00000012134:D1917H	ENSP00000012134:D1917H	D	-	1	0	HIVEP2	143123369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GAT	HIVEP2	-	NULL		0.438	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143081676	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	G	G	143081676	C	G	143081676	3	3	35	1	0	0	0	0	1	0	0	0	7207	913	32	1	1599	1	HIVEP2	6	143081676	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	91578016	143081676	28033391	50	4955										
HIVEP2	3097	genome.wustl.edu	37	chr6	143081724	143081724	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	atcctcaccatctgattcctCagcatcggagaactgatgat	7	12	3	4			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:143081724C>T	ENST00000367604.1	-	8	6340	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1901K|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E1901K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1901	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		tcTGATTCCTCAGCATCGGAG	0.388																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													49	50	50					6																	143081724		2052	4204	6256	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5701G>A	6.37:g.143081724C>T	ENSP00000356576:p.Glu1901Lys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1901K	ENST00000367604.1	37	c.5701	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630340	0.87660	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03152	4.03;4.03;4.03	6.16	6.16	0.99307	.	0.189680	0.56097	D	0.000034	T	0.07188	0.0182	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.29150	-1.0021	10	0.87932	D	0	-29.5103	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1901	P31629	ZEP2_HUMAN	K	1901	ENSP00000356576:E1901K;ENSP00000356575:E1901K;ENSP00000012134:E1901K	ENSP00000012134:E1901K	E	-	1	0	HIVEP2	143123417	1.000000	0.71417	0.986000	0.45419	0.471000	0.32888	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GAG	HIVEP2	-	NULL		0.388	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143081724	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143081724	C	T	143081724	3	4	35	1	0	0	0	0	1	0	0	0	7207	835	29	1	1647	1	HIVEP2	6	143081724	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	48	143081724	28033343	51	4956										
NOX3	50508	genome.wustl.edu	37	chr6	155775958	155775958	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tacttacaatacttgttcctCttatgaatgaaataaggttt	5	6	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:155775958C>T	ENST00000159060.2	-	3	344	c.242G>A	c.(241-243)aGa>aAa	p.R81K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	81	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACTTGTTCCTCTTATGAATGA	0.353																																																	0													53	53	53					6																	155775958		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.242G>A	6.37:g.155775958C>T	ENSP00000159060:p.Arg81Lys		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R81K	ENST00000159060.2	37	c.242	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555814	0.86231	.	.	ENSG00000074771	ENST00000159060	D	0.95724	-3.79	5.91	5.91	0.95273	Flavoprotein transmembrane component (1);	0.080496	0.53938	D	0.000052	D	0.98397	0.9467	M	0.92691	3.335	0.43076	D	0.994723	D	0.76494	0.999	D	0.80764	0.994	D	0.98888	1.0772	10	0.87932	D	0	-15.8309	20.3011	0.98612	0.0:1.0:0.0:0.0	.	81	Q9HBY0	NOX3_HUMAN	K	81	ENSP00000159060:R81K	ENSP00000159060:R81K	R	-	2	0	NOX3	155817650	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.470000	0.60175	2.804000	0.96469	0.650000	0.86243	AGA	NOX3	-	pfam_Fe3_Rdtase_TM_dom		0.353	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	C			155775958	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155775958	C	T	155775958	3	4	35	1	0	0	0	0	1	0	0	0	10581	913	32	1	1508	1	NOX3	6	155775958	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	12694234	155775958	15339109	52	4957										
TULP4	56995	genome.wustl.edu	37	chr6	158923338	158923338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acgtcagtgcactaccagacCcccctgggctatgagaggat	11	13	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:158923338C>T	ENST00000367097.3	+	13	4000	c.2643C>T	c.(2641-2643)acC>acT	p.T881T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	881					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACTACCAGACCCCCCTGGGCT	0.652																																																	0													64	67	66					6																	158923338		2203	4300	6503	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2643C>T	6.37:g.158923338C>T			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T881	ENST00000367097.3	37	c.2643	CCDS34561.1	6																																																																																			TULP4	-	NULL		0.652	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158923338	1	no_errors	ENST00000367097	ensembl	human	known	70_37	silent	SNP	0.998	T	T	158923338	C	T	158923338	2	4	35	1	0	0	0	0	0	0	0	1	16807	610	22	4		4	TULP4	6	158923338	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	3147380	158923338	12191729	53	4958										
MICALL2	79778	genome.wustl.edu	37	chr7	1479617	1479617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tcctgtcaggcctcacggggGtcagggtgatgtggacactc	15	11	3	1	rs374682289		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:1479617G>T	ENST00000297508.7	-	9	2085	c.1910C>A	c.(1909-1911)aCc>aAc	p.T637N	MICALL2_ENST00000471899.1_5'Flank|MICALL2_ENST00000405088.4_Missense_Mutation_p.T425N	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	637	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTCACGGGGGTCAGGGTGAT	0.706																																																	0													31	33	32					7																	1479617		2195	4294	6489	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1910C>A	7.37:g.1479617G>T	ENSP00000297508:p.Thr637Asn		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.T637N	ENST00000297508.7	37	c.1910	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585507	0.28268	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69175	2.46;-0.38	3.19	-0.298	0.12814	.	1.418460	0.05194	N	0.503693	T	0.66458	0.2791	L	0.32530	0.975	0.09310	N	1	P;D	0.76494	0.937;0.999	B;D	0.63488	0.307;0.915	T	0.56329	-0.7997	10	0.18276	T	0.48	.	4.7431	0.13024	0.1388:0.4425:0.4187:0.0	.	637;425	Q8IY33;D3YTD2	MILK2_HUMAN;.	N	425;637	ENSP00000385928:T425N;ENSP00000297508:T637N	ENSP00000297508:T637N	T	-	2	0	MICALL2	1446143	0.954000	0.32549	0.001000	0.08648	0.048000	0.14542	0.685000	0.25378	0.133000	0.18654	-0.266000	0.10368	ACC	MICALL2	-	NULL		0.706	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	G	NM_182924		1479617	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	0.001	T	T	1479617	G	T	1479617	3	4	35	1	0	0	0	0	1	0	0	0	9597	1261	44	4	840	4	MICALL2	7	1479617	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		1479617	157659046	54	4959										
MEOX2	4223	genome.wustl.edu	37	chr7	15725877	15725877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ctcttcgttggggtatcccgCgattatgcaagatgaggaag	13	8	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:15725877C>T	ENST00000262041.5	-	1	560	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	51					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GGGTATCCCGCGATTATGCAA	0.567																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													61	55	57					7																	15725877		2203	4300	6503	SO:0001583	missense	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.151G>A	7.37:g.15725877C>T	ENSP00000262041:p.Ala51Thr		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A51T	ENST00000262041.5	37	c.151	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	C	2.902	-0.227297	0.06022	.	.	ENSG00000106511	ENST00000262041	D	0.89939	-2.59	4.88	4.88	0.63580	.	0.266291	0.35677	N	0.003046	T	0.73385	0.3580	N	0.04636	-0.2	0.36656	D	0.877667	B	0.10296	0.003	B	0.01281	0.0	T	0.70662	-0.4810	10	0.14252	T	0.57	-11.4553	10.2938	0.43612	0.0:0.8452:0.0:0.1548	.	51	P50222	MEOX2_HUMAN	T	51	ENSP00000262041:A51T	ENSP00000262041:A51T	A	-	1	0	MEOX2	15692402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.286000	0.43496	2.424000	0.82194	0.650000	0.86243	GCG	MEOX2	-	NULL		0.567	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	C	NM_005924		15725877	-1	no_errors	ENST00000262041	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15725877	C	T	15725877	3	4	35	1	0	0	0	0	1	0	0	0	9497	768	27	2	775	2	MEOX2	7	15725877	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	14246260	15725877	143412786	55	4960										
LANCL2	55915	genome.wustl.edu	37	chr7	55499004	55499004	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tttgaacttgactcttcgaaGagggattaaaaggtgcaaaa	10	5	1	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:55499004G>C	ENST00000254770.2	+	9	1922	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	448					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ACTCTTCGAAGAGGGATTAAA	0.443																																																	0													70	67	68					7																	55499004		2203	4300	6503	SO:0001583	missense	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1344G>C	7.37:g.55499004G>C	ENSP00000254770:p.Lys448Asn		B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.K448N	ENST00000254770.2	37	c.1344	CCDS5517.1	7	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689302	0.48097	.	.	ENSG00000132434	ENST00000254770	T	0.32272	1.46	5.79	4.91	0.64330	.	0.276314	0.27659	N	0.018382	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.19160	-1.0314	10	0.56958	D	0.05	.	13.545	0.61697	0.0753:0.0:0.9247:0.0	.	448	Q9NS86	LANC2_HUMAN	N	448	ENSP00000254770:K448N	ENSP00000254770:K448N	K	+	3	2	LANCL2	55466498	0.047000	0.20315	0.740000	0.30986	0.980000	0.70556	0.799000	0.27028	1.451000	0.47736	0.563000	0.77884	AAG	LANCL2	-	NULL		0.443	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	G	NM_018697		55499004	1	no_errors	ENST00000254770	ensembl	human	known	70_37	missense	SNP	0.285	C	C	55499004	G	C	55499004	3	2	35	1	0	0	0	0	1	0	0	0	8641	933	33	1	1378	1	LANCL2	7	55499004	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	39773127	55499004	103639659	56	4961										
ABCB4	5244	genome.wustl.edu	37	chr7	87083892	87083892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	attttgcctggatttagcagCgacaaggaaaagttcactaa	9	7	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:87083892C>T	ENST00000265723.4	-	5	414	c.303G>A	c.(301-303)tcG>tcA	p.S101S	ABCB4_ENST00000545634.1_Silent_p.S101S|ABCB4_ENST00000453593.1_Silent_p.S101S|ABCB4_ENST00000358400.3_Silent_p.S101S|ABCB4_ENST00000359206.3_Silent_p.S101S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	101	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S101S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GATTTAGCAGCGACAAGGAAA	0.264																																																	1	Substitution - coding silent(1)	large_intestine(1)											40	44	42					7																	87083892		2202	4294	6496	SO:0001819	synonymous_variant	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.303G>A	7.37:g.87083892C>T			A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S101	ENST00000265723.4	37	c.303	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.264	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87083892	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	silent	SNP	0.980	T	T	87083892	C	T	87083892	2	4	35	1	0	0	0	0	0	0	0	1	43	755	27	2		2	ABCB4	7	87083892	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	31584888	87083892	72054771	57	4962										
BAIAP2L1	55971	genome.wustl.edu	37	chr7	97937178	97937178	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtcccgttgcaaccgaaactGatcgctgtaaactgggatct	10	11	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:97937178G>A	ENST00000005260.8	-	10	1201	c.986C>T	c.(985-987)tCa>tTa	p.S329L	RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	329					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AACCGAAACTGATCGCTGTAA	0.473																																																	0													174	147	156					7																	97937178		2203	4300	6503	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.986C>T	7.37:g.97937178G>A	ENSP00000005260:p.Ser329Leu		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S329L	ENST00000005260.8	37	c.986	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.323904	0.95708	.	.	ENSG00000006453	ENST00000005260	T	0.29655	1.56	5.02	5.02	0.67125	.	0.056911	0.64402	D	0.000001	T	0.56863	0.2014	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.58674	-0.7595	10	0.51188	T	0.08	-18.5485	17.702	0.88298	0.0:0.0:1.0:0.0	.	329	Q9UHR4	BI2L1_HUMAN	L	329	ENSP00000005260:S329L	ENSP00000005260:S329L	S	-	2	0	AC093799.1	97775114	1.000000	0.71417	0.871000	0.34182	0.959000	0.62525	9.131000	0.94446	2.503000	0.84419	0.557000	0.71058	TCA	BAIAP2L1	-	NULL		0.473	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	G	NM_018842		97937178	-1	no_errors	ENST00000005260	ensembl	human	known	70_37	missense	SNP	0.999	A	A	97937178	G	A	97937178	3	1	35	1	0	0	0	0	1	0	0	0	1303	1294	45	1	569	1	BAIAP2L1	7	97937178	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	10853286	97937178	61201485	58	4963										
ADAMDEC1	27299	genome.wustl.edu	37	chr8	24256534	24256534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acctggggaaaaagatccacGaccatgctcagcttctcagg	10	12	2	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr8:24256534G>A	ENST00000256412.4	+	9	1130	c.910G>A	c.(910-912)Gac>Aac	p.D304N	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D225N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.D225N|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAAGATCCACGACCATGCTCA	0.517																																					Ovarian(147;687 1849 3699 25981 31337)												0													86	76	80					8																	24256534		2203	4300	6503	SO:0001583	missense	27299			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.910G>A	8.37:g.24256534G>A	ENSP00000256412:p.Asp304Asn		B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.D304N	ENST00000256412.4	37	c.910	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645313	0.47258	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.72615	-0.67;-0.67;-0.67	5.88	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.083053	0.51477	N	0.000082	T	0.81889	0.4918	M	0.83603	2.65	0.27050	N	0.963817	D	0.71674	0.998	D	0.66084	0.941	T	0.75314	-0.3361	10	0.54805	T	0.06	-36.6159	8.5633	0.33525	0.138:0.0:0.862:0.0	.	304	O15204	ADEC1_HUMAN	N	304;225;225	ENSP00000256412:D304N;ENSP00000442592:D225N;ENSP00000428993:D225N	ENSP00000256412:D304N	D	+	1	0	ADAMDEC1	24312479	1.000000	0.71417	0.765000	0.31456	0.857000	0.48899	3.149000	0.50655	1.141000	0.42275	0.655000	0.94253	GAC	ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.517	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	G	NM_014479		24256534	1	no_errors	ENST00000256412	ensembl	human	known	70_37	missense	SNP	0.964	A	A	24256534	G	A	24256534	3	1	35	1	0	0	0	0	1	0	0	0	254	1058	37	1	944	1	ADAMDEC1	8	24256534	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		24256534	122107488	59	4964										
GPR124	25960	genome.wustl.edu	37	chr8	37691313	37691313	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gatgtagtctatgtggctcaGatgatccagaaatttttggg	12	5	2	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr8:37691313G>C	ENST00000412232.2	+	10	1417	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	GPR124_ENST00000315215.7_Missense_Mutation_p.Q468H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	468					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGTGGCTCAGATGATCCAGA	0.522																																																	0													104	105	105					8																	37691313		2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1404G>C	8.37:g.37691313G>C	ENSP00000406367:p.Gln468His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.Q468H	ENST00000412232.2	37	c.1404	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751453	0.69533	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.43294	0.95;0.95	4.51	4.51	0.55191	.	0.150447	0.44902	D	0.000417	T	0.50188	0.1601	L	0.41236	1.265	0.51233	D	0.999912	B;D	0.71674	0.34;0.998	B;D	0.64237	0.257;0.923	T	0.44877	-0.9299	10	0.39692	T	0.17	-11.6224	11.7895	0.52061	0.0858:0.0:0.9142:0.0	.	468;468	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	461;468;468	ENSP00000323508:Q468H;ENSP00000406367:Q468H	ENSP00000323508:Q468H	Q	+	3	2	GPR124	37810471	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.514000	0.35834	2.064000	0.61679	0.561000	0.74099	CAG	GPR124	-	NULL		0.522	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G			37691313	1	no_errors	ENST00000412232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37691313	G	C	37691313	3	2	35	1	0	0	0	0	1	0	0	0	6657	933	33	1	1421	1	GPR124	8	37691313	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	13434779	37691313	108672709	60	4965										
DAPK1	1612	genome.wustl.edu	37	chr9	90296363	90296363	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cagcagctccgacccacacaGaacctgcagccaagaattaa	7	15	0	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:90296363G>A	ENST00000408954.3	+	20	2381	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	DAPK1_ENST00000472284.1_Silent_p.Q682Q|DAPK1_ENST00000491893.1_Silent_p.Q682Q|DAPK1_ENST00000358077.5_Silent_p.Q682Q|DAPK1_ENST00000469640.2_Silent_p.Q682Q	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	682					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GACCCACACAGAACCTGCAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													113	117	116					9																	90296363		1991	4179	6170	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2046G>A	9.37:g.90296363G>A			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.Q682	ENST00000408954.3	37	c.2046	CCDS43842.1	9																																																																																			DAPK1	-	NULL		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	G	NM_004938		90296363	1	no_errors	ENST00000469640	ensembl	human	known	70_37	silent	SNP	1.000	A	A	90296363	G	A	90296363	2	1	35	1	0	0	0	0	0	0	0	1	4240	933	33	1		1	DAPK1	9	90296363	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		90296363	50917068	61	4966										
SPTLC1	10558	genome.wustl.edu	37	chr9	94830364	94830364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aattttgccaggcggtcttcCaaatccaaatgaacatctat	6	10	2	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:94830364C>T	ENST00000262554.2	-	6	449	c.444G>A	c.(442-444)ttG>ttA	p.L148L	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	148					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GGCGGTCTTCCAAATCCAAAT	0.338																																																	0													77	79	79					9																	94830364		2203	4300	6503	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.444G>A	9.37:g.94830364C>T			A8K681|Q5VWB4|Q96IX6	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L148	ENST00000262554.2	37	c.444	CCDS6692.1	9																																																																																			SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.338	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	C	NM_006415		94830364	-1	no_errors	ENST00000262554	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94830364	C	T	94830364	2	4	35	1	0	0	0	0	0	0	0	1	15153	593	21	4		4	SPTLC1	9	94830364	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	4534001	94830364	46383067	62	4967										
LRSAM1	90678	genome.wustl.edu	37	chr9	130257620	130257620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cggagttagaagccaaaagtGaaaccaggcaggaaaattac	11	7	0	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:130257620G>A	ENST00000323301.4	+	21	2225	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E541K|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E514K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E541K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	541					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGCCAAAAGTGAAACCAGGCA	0.468																																																	0													83	79	80					9																	130257620		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1621G>A	9.37:g.130257620G>A	ENSP00000322937:p.Glu541Lys		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E541K	ENST00000323301.4	37	c.1621	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008374	0.93346	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76186	1.36;-1.0;1.36;1.36	5.73	5.73	0.89815	.	0.047524	0.85682	D	0.000000	D	0.83908	0.5356	L	0.53249	1.67	0.58432	D	0.999995	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.98	D	0.84361	0.0538	10	0.72032	D	0.01	-17.9414	17.7591	0.88459	0.0:0.0:1.0:0.0	.	514;541	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	541;514;541;541	ENSP00000300417:E541K;ENSP00000362421:E514K;ENSP00000322937:E541K;ENSP00000362419:E541K	ENSP00000300417:E541K	E	+	1	0	LRSAM1	129297441	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	7.709000	0.84645	2.854000	0.98071	0.655000	0.94253	GAA	LRSAM1	-	NULL		0.468	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130257620	1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.999	A	A	130257620	G	A	130257620	3	1	35	1	0	0	0	0	1	0	0	0	9066	1291	45	1	1699	1	LRSAM1	9	130257620	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	35427256	130257620	10955811	63	4968										
VAV2	7410	genome.wustl.edu	37	chr9	136649441	136649441	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gcagggggtttcccacacctGaggaacattttgcaggcttt	12	10	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:136649441G>C	ENST00000371850.3	-	18	1663	c.1632C>G	c.(1630-1632)ctC>ctG	p.L544L	VAV2_ENST00000371851.1_Silent_p.L534L|VAV2_ENST00000406606.3_Silent_p.L534L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	544					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCCACACCTGAGGAACATTT	0.547																																																	0													329	292	305					9																	136649441		2203	4300	6503	SO:0001819	synonymous_variant	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1632C>G	9.37:g.136649441G>C			A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.L544	ENST00000371850.3	37	c.1632	CCDS48053.1	9																																																																																			VAV2	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.547	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	G			136649441	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	silent	SNP	1.000	C	C	136649441	G	C	136649441	2	2	35	1	0	0	0	0	0	0	0	1	17163	1277	45	1		1	VAV2	9	136649441	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	6391821	136649441	4563990	64	4969										
CDH23	414152	genome.wustl.edu	37	chr10	73472508	73472508	+	3'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	atgacaaccggcccatctttCtgcagagcagctatgaggcc	10	13	2	3	rs113714164		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:73472508C>T	ENST00000441508.2	-	0	3786				CDH23_ENST00000224721.6_Silent_p.L1108L|C10orf105_ENST00000398786.2_3'UTR	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCCCATCTTTCTGCAGAGCAG	0.617																																																	0													50	55	53					10																	73472508		2087	4207	6294	SO:0001624	3_prime_UTR_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000441508.2:c.*3185G>A	10.37:g.73472508C>T				Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1106	ENST00000441508.2	37	c.3316	CCDS44430.1	10																																																																																			CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.617	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	C	NM_001164375		73472508	1	no_errors	ENST00000224721	ensembl	human	known	70_37	silent	SNP	1.000	T	T	73472508	C	T	73472508	1	4	35	0	1	0	0	0	0	0	0	0	3113	912	32	1		1	CDH23	10	73472508	3'UTR	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		73472508	62062239	65	4970										
FAM35A	54537	genome.wustl.edu	37	chr10	88911700	88911700	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggcctgaagtggtacaaagaGagtgtgtgccaacagaatat	13	6	0	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:88911700G>C	ENST00000298784.1	+	3	703	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	FAM35A_ENST00000298786.4_Missense_Mutation_p.E197Q|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	197										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GGTACAAAGAGAGTGTGTGCC	0.383																																					Ovarian(175;703 2004 25460 32514 43441)												0													19	21	20					10																	88911700		2011	4013	6024	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.589G>C	10.37:g.88911700G>C	ENSP00000298784:p.Glu197Gln		O95885|Q9H991	Missense_Mutation	SNP	NULL	p.E197Q	ENST00000298784.1	37	c.589	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	g	6.040	0.375758	0.11409	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.23147	1.92;1.92;1.92	4.01	-3.2	0.05156	.	0.938068	0.08771	N	0.896269	T	0.14917	0.0360	L	0.36672	1.1	0.09310	N	1	B	0.29508	0.246	B	0.19391	0.025	T	0.26087	-1.0113	10	0.25751	T	0.34	0.273	6.4765	0.22039	0.2539:0.1828:0.5633:0.0	.	197	Q86V20	FA35A_HUMAN	Q	197	ENSP00000298786:E197Q;ENSP00000298784:E197Q;ENSP00000351064:E197Q	ENSP00000298784:E197Q	E	+	1	0	FAM35A	88901680	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.508000	0.06344	-0.466000	0.06943	-0.497000	0.04613	GAG	FAM35A	-	NULL		0.383	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	G	NM_019054		88911700	1	no_errors	ENST00000298786	ensembl	human	known	70_37	missense	SNP	0.000	C	C	88911700	G	C	88911700	3	2	35	1	0	0	0	0	1	0	0	0	5571	943	33	1	591	1	FAM35A	10	88911700	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	15439192	88911700	46623047	66	4971										
PSD	5662	genome.wustl.edu	37	chr10	104164743	104164743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtcactggcacgagtggccaGggcatggtggatgctgatgg	18	8	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:104164743G>T	ENST00000020673.5	-	14	2993	c.2467C>A	c.(2467-2469)Ctg>Atg	p.L823M	PSD_ENST00000406432.1_Missense_Mutation_p.L823M	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	823	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGAGTGGCCAGGGCATGGTGG	0.617																																																	0													88	71	77					10																	104164743		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2467C>A	10.37:g.104164743G>T	ENSP00000020673:p.Leu823Met		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L823M	ENST00000020673.5	37	c.2467	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414849	0.62511	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.33216	1.42;1.42	4.81	3.91	0.45181	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	T	0.60728	0.2291	M	0.91459	3.21	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67960	-0.5535	10	0.87932	D	0	.	10.4534	0.44535	0.1568:0.0:0.8432:0.0	.	823;726;444	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	M	823;726;823	ENSP00000020673:L823M;ENSP00000384830:L823M	ENSP00000020673:L823M	L	-	1	2	PSD	104154733	0.999000	0.42202	0.981000	0.43875	0.996000	0.88848	2.821000	0.48065	1.262000	0.44165	0.549000	0.68633	CTG	PSD	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.617	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104164743	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.962	T	T	104164743	G	T	104164743	3	4	35	1	0	0	0	0	1	0	0	0	12673	991	35	4	623	4	PSD	10	104164743	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	15253043	104164743	31370004	67	4972										
EMX2	2018	genome.wustl.edu	37	chr10	119302808	119302808	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ccggcgcccaagcgctgcttCaccatcgagtcgctggtggc	13	16	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:119302808C>T	ENST00000553456.3	+	1	854	c.30C>T	c.(28-30)ttC>ttT	p.F10F	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.F10F	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	10					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGCGCTGCTTCACCATCGAGT	0.736																																																	0													8	6	6					10																	119302808		2002	3962	5964	SO:0001819	synonymous_variant	2018			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.30C>T	10.37:g.119302808C>T			G3V305|Q96NN8|Q9BQF4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.F10	ENST00000553456.3	37	c.30	CCDS7601.1	10																																																																																			EMX2	-	NULL		0.736	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	C	NM_004098		119302808	1	no_errors	ENST00000369201	ensembl	human	known	70_37	silent	SNP	1.000	T	T	119302808	C	T	119302808	2	4	35	1	0	0	0	0	0	0	0	1	5120	825	29	1		1	EMX2	10	119302808	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	15138065	119302808	16231939	68	4973										
DNHD1	144132	genome.wustl.edu	37	chr11	6566173	6566173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acaactgctgcaagcaggatCggtggagctggagggcatca	15	9	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr11:6566173C>T	ENST00000527990.2	+	19	4004	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L	DNHD1_ENST00000254579.6_Missense_Mutation_p.S1335L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1335					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAAGCAGGATCGGTGGAGCTG	0.567																																																	0													127	119	121					11																	6566173		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4004C>T	11.37:g.6566173C>T	ENSP00000436180:p.Ser1335Leu		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.S1335L	ENST00000527990.2	37	c.4004	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290112	0.59976	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.60548	0.18;0.18	5.68	4.69	0.59074	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.68026	0.2956	L	0.38175	1.15	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.60525	-0.7246	9	0.52906	T	0.07	.	16.3723	0.83368	0.1406:0.8594:0.0:0.0	.	1335	Q96M86	DNHD1_HUMAN	L	1335	ENSP00000254579:S1335L;ENSP00000436180:S1335L	ENSP00000254579:S1335L	S	+	2	0	DNHD1	6522749	0.037000	0.19845	0.927000	0.36925	0.974000	0.67602	1.675000	0.37555	2.677000	0.91161	0.563000	0.77884	TCG	DNHD1	-	pfam_Dynein_heavy_dom-2		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6566173	1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.026	T	T	6566173	C	T	6566173	3	4	35	1	0	0	0	0	1	0	0	0	4678	893	31	1	4087	1	DNHD1	11	6566173	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		6566173	128440343	69	4974										
INCENP	3619	genome.wustl.edu	37	chr11	61914275	61914275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggagcggcgcgagcaggagcGgcgcgagcaggagcggcggg	24	10	0	0	rs553981745	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr11:61914275G>A	ENST00000394818.3	+	15	2307	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	INCENP_ENST00000278849.4_Missense_Mutation_p.R698Q	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	702					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						gagcaggagcggcgcgagcag	0.751													-|||	2	0.000399361	0	0	5008	,	,		10270	0		0	False		,,,				2504	0.002																0													3	5	4					11																	61914275		1802	3558	5360	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2105G>A	11.37:g.61914275G>A	ENSP00000378295:p.Arg702Gln		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R702Q	ENST00000394818.3	37	c.2105	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406045	0.25378	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.14022	2.54;2.54	2.16	-3.22	0.05125	.	0.380247	0.18791	U	0.131070	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.28004	-1.0057	10	0.28530	T	0.3	.	0.1512	0.00093	0.2581:0.239:0.2649:0.238	.	698;698;702	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	Q	702;698	ENSP00000378295:R702Q;ENSP00000278849:R698Q	ENSP00000278849:R698Q	R	+	2	0	INCENP	61670851	0.906000	0.30813	0.002000	0.10522	0.333000	0.28666	0.415000	0.21181	-0.548000	0.06199	0.289000	0.19496	CGG	INCENP	-	NULL		0.751	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61914275	1	no_errors	ENST00000394818	ensembl	human	known	70_37	missense	SNP	0.002	A	A	61914275	G	A	61914275	3	1	35	1	0	0	0	0	1	0	0	0	7753	1116	39	2	2159	2	INCENP	11	61914275	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	55348102	61914275	73092241	70	4975			1	24		2	2	20	G		6.444273e-05
INCENP	3619	genome.wustl.edu	37	chr11	61914294	61914294	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cggcgcgagcaggagcggcgGgagcaggagcggcgcgagca	22	11	0	0	rs374721937	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756													G|||	10	0.00199681	0.0061	0.0029	5008	,	,		11587	0		0	False		,,,				2504	0																0													3	5	5					11																	61914294		1897	3823	5720	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2124G>C	11.37:g.61914294G>C			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R708	ENST00000394818.3	37	c.2124	CCDS44624.1	11																																																																																			INCENP	-	NULL		0.756	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61914294	1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	0.000	C	C	61914294	G	C	61914294	2	2	35	1	0	0	0	0	0	0	0	1	7753	1219	43	4		4	INCENP	11	61914294	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	19	61914294	73092222	71	4976			1	24		2	2	20	G		6.444273e-05
CACNA2D4	93589	genome.wustl.edu	37	chr12	1992068	1992068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggcctctgtccagatgatgtCgtggtcgtggttgatgacca	14	9	1	4	rs376591807		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr12:1992068C>T	ENST00000382722.5	-	13	1812	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D420N|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D484N|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D484N|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.D369N|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D420N	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	484					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGATGATGTCGTGGTCGTGG	0.592																																					Colon(2;101 179 21030 23310 28141)												0								C	ASN/ASP	0,4300		0,0,2150	81	87	85		1450	5.3	1	12		85	3,8509		0,3,4253	no	missense	CACNA2D4	NM_172364.4	23	0,3,6403	TT,TC,CC		0.0352,0.0,0.0234	probably-damaging	484/1138	1992068	3,12809	2150	4256	6406	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1450G>A	12.37:g.1992068C>T	ENSP00000372169:p.Asp484Asn		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D484N	ENST00000382722.5	37	c.1450	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691200	0.88735	0.0	3.52E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.06687	3.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	N	0.12182	0.205	0.58432	D	0.999999	D;D	0.89917	0.986;1.0	P;D	0.87578	0.856;0.998	T	0.31251	-0.9950	10	0.38643	T	0.18	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	484;484	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	N	420;484;484	ENSP00000372169:D484N	ENSP00000280663:D484N	D	-	1	0	CACNA2D4	1862329	1.000000	0.71417	0.979000	0.43373	0.749000	0.42624	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GAC	CACNA2D4	-	NULL		0.592	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	C			1992068	-1	no_errors	ENST00000382722	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1992068	C	T	1992068	3	4	35	1	0	0	0	0	1	0	0	0	2556	884	31	1	2067	1	CACNA2D4	12	1992068	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		1992068	131859827	72	4977										
KRAS	3845	genome.wustl.edu	37	chr12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	acttacctgtcttgtctttgCtgatgtttcaataaaaggaa	7	7	3	1	rs121913527		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A146T(75)|p.A146P(7)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)											207	188	195					12																	25378562		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A146T	ENST00000256078.4	37	c.436	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA	KRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25378562	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25378562	C	T	25378562	3	4	35	1	0	0	0	0	1	0	0	0	8458	797	28	4	262	4	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	23386494	25378562	108473333	73	4978										
COL4A2	1284	genome.wustl.edu	37	chr13	111155758	111155758	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggtgaacaaggcttcatgggGaacactggacccactggggc	15	10	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr13:111155758G>T	ENST00000360467.5	+	43	4374	c.4068G>T	c.(4066-4068)ggG>ggT	p.G1356G	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1356	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCTTCATGGGGAACACTGGAC	0.607																																																	0													34	38	37					13																	111155758		1901	4117	6018	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4068G>T	13.37:g.111155758G>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1356	ENST00000360467.5	37	c.4068	CCDS41907.1	13																																																																																			COL4A2	-	pfam_Collagen		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111155758	1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.041	T	T	111155758	G	T	111155758	2	4	35	1	0	0	0	0	0	0	0	1	3695	1161	41	3		3	COL4A2	13	111155758	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		111155758	4014120	74	4979										
GPR132	29933	genome.wustl.edu	37	chr14	105517706	105517706	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	aggagaaccaggtggtacggGgcgaagcagactaggaagat	17	6	0	3	rs548478287		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr14:105517706G>C	ENST00000329797.3	-	4	1679	c.768C>G	c.(766-768)gcC>gcG	p.A256A	GPR132_ENST00000392585.2_Silent_p.A247A|GPR132_ENST00000539291.2_Silent_p.A256A|GPR132_ENST00000546679.1_5'Flank	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	256					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGTGGTACGGGGCGAAGCAGA	0.577																																																	0													113	112	112					14																	105517706		2203	4300	6503	SO:0001819	synonymous_variant	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.768C>G	14.37:g.105517706G>C			A8K7X7|B4E144|Q9BSU2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.A256	ENST00000329797.3	37	c.768	CCDS9997.1	14																																																																																			GPR132	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	HGNC	protein_coding	OTTHUMT00000409278.1	G	NM_013345		105517706	-1	no_errors	ENST00000329797	ensembl	human	known	70_37	silent	SNP	0.001	C	C	105517706	G	C	105517706	2	2	35	1	0	0	0	0	0	0	0	1	6661	1219	43	4		4	GPR132	14	105517706	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		105517706	1831834	75	4980										
C15orf2	23742	genome.wustl.edu	37	chr15	24921639	24921639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gatgcagccctgggcctctgGagggaaatgtctaccacaag	13	11	2	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:24921639G>A	ENST00000329468.2	+	1	1099	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	209					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGGGCCTCTGGAGGGAAATGT	0.607																																																	0													36	35	35					15																	24921639		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.625G>A	15.37:g.24921639G>A	ENSP00000333735:p.Glu209Lys			Missense_Mutation	SNP	NULL	p.E209K	ENST00000329468.2	37	c.625	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	6.420	0.445599	0.12164	.	.	ENSG00000185823	ENST00000329468	T	0.06768	3.26	2.07	-0.481	0.12082	.	2.067240	0.02858	N	0.129924	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.26602	0.154	B	0.38655	0.278	T	0.36480	-0.9746	10	0.02654	T	1	.	4.4308	0.11525	0.4888:0.0:0.5112:0.0	.	209	Q9NZP6	CO002_HUMAN	K	209	ENSP00000333735:E209K	ENSP00000333735:E209K	E	+	1	0	C15orf2	22472732	0.005000	0.15991	0.000000	0.03702	0.055000	0.15305	0.115000	0.15540	-0.107000	0.12088	0.436000	0.28706	GAG	NPAP1	-	NULL		0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	G	NM_018958		24921639	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	A	A	24921639	G	A	24921639	3	1	35	1	0	0	0	0	1	0	0	0	1788	1175	41	1	627	1	C15orf2	15	24921639	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		24921639	77609753	76	4981										
SH2D7	646892	genome.wustl.edu	37	chr15	78385042	78385042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gtggttcatggagacacaggCccccttcattctgcagaacg	11	12	3	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:78385042C>A	ENST00000328828.5	+	1	116	c.116C>A	c.(115-117)gCc>gAc	p.A39D	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_Intron	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	39										endometrium(2)|kidney(2)|lung(3)	7						GAGACACAGGCCCCCTTCATT	0.607																																																	0													39	43	41					15																	78385042		1996	4153	6149	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.116C>A	15.37:g.78385042C>A	ENSP00000327846:p.Ala39Asp			Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A39D	ENST00000328828.5	37	c.116	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520846	0.85495	.	.	ENSG00000183476	ENST00000328828	T	0.33654	1.4	5.49	5.49	0.81192	.	.	.	.	.	T	0.46776	0.1410	L	0.27053	0.805	0.34963	D	0.752419	D	0.89917	1.0	D	0.85130	0.997	T	0.54070	-0.8348	9	0.37606	T	0.19	.	14.8627	0.70392	0.0:1.0:0.0:0.0	.	39	A6NKC9	SH2D7_HUMAN	D	39	ENSP00000327846:A39D	ENSP00000327846:A39D	A	+	2	0	SH2D7	76172097	0.953000	0.32496	1.000000	0.80357	0.985000	0.73830	2.007000	0.40883	2.568000	0.86640	0.655000	0.94253	GCC	SH2D7	-	NULL		0.607	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	C	NM_001101404		78385042	1	no_errors	ENST00000328828	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	78385042	C	A	78385042	3	1	35	1	0	0	0	0	1	0	0	0	14269	739	26	4	118	4	SH2D7	15	78385042	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	53463403	78385042	24146350	77	4982										
AP3B2	8120	genome.wustl.edu	37	chr15	83349469	83349469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gcctcgtcctcctctgagccGtagaaggctttttccgcgtt	10	14	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:83349469G>A	ENST00000261722.3	-	8	1017	c.810C>T	c.(808-810)taC>taT	p.Y270Y	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.Y238Y|AP3B2_ENST00000535359.1_Silent_p.Y270Y	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	270					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCTGAGCCGTAGAAGGCTT	0.692																																																	0													20	22	21					15																	83349469		1877	4084	5961	SO:0001819	synonymous_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.810C>T	15.37:g.83349469G>A			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.Y270	ENST00000261722.3	37	c.810	CCDS45331.1	15																																																																																			AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.692	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	G			83349469	-1	no_errors	ENST00000261722	ensembl	human	known	70_37	silent	SNP	0.891	A	A	83349469	G	A	83349469	2	1	35	1	0	0	0	0	0	0	0	1	745	1140	40	2		2	AP3B2	15	83349469	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	4964427	83349469	19181923	78	4983										
WFIKKN1	117166	genome.wustl.edu	37	chr16	683018	683018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggtgcaggttgggggtacggCcagcctccactgcgacgtca	16	12	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:683018C>T	ENST00000319070.2	+	2	930	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	203	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGGGGTACGGCCAGCCTCCAC	0.706																																																	0													12	14	14					16																	683018		2083	4136	6219	SO:0001583	missense	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.608C>T	16.37:g.683018C>T	ENSP00000324763:p.Ala203Val		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.A203V	ENST00000319070.2	37	c.608	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	c	0.771	-0.765617	0.02996	.	.	ENSG00000127578	ENST00000319070	D	0.95307	-3.67	4.64	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064961	0.64402	D	0.000012	D	0.85961	0.5819	N	0.21097	0.63	0.34556	D	0.711851	B	0.17268	0.021	B	0.18561	0.022	T	0.78695	-0.2104	10	0.02654	T	1	.	7.3001	0.26415	0.0:0.8098:0.0:0.1902	.	203	Q96NZ8	WFKN1_HUMAN	V	203	ENSP00000324763:A203V	ENSP00000324763:A203V	A	+	2	0	WFIKKN1	623019	0.999000	0.42202	0.988000	0.46212	0.562000	0.35680	1.949000	0.40313	2.138000	0.66242	0.431000	0.28591	GCC	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.706	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	C	NM_053284		683018	1	no_errors	ENST00000319070	ensembl	human	known	70_37	missense	SNP	1.000	T	T	683018	C	T	683018	3	4	35	1	0	0	0	0	1	0	0	0	17389	739	26	4	614	4	WFIKKN1	16	683018	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		683018	89671735	79	4984										
PKD1	5310	genome.wustl.edu	37	chr16	2152631	2152631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	taactccccgctgggtctctGctcctgggcagggaaggggt	15	12	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:2152631G>C	ENST00000262304.4	-	25	9160	c.8952C>G	c.(8950-8952)agC>agG	p.S2984R	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.S2984R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2984					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGGTCTCTGCTCCTGGGCA	0.657																																																	0													28	37	34					16																	2152631		2183	4281	6464	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8952C>G	16.37:g.2152631G>C	ENSP00000262304:p.Ser2984Arg		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S2984R	ENST00000262304.4	37	c.8952	CCDS32369.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.256705|2.256705	0.39896|0.39896	.|.	.|.	ENSG00000008710|ENSG00000008710	ENST00000382481|ENST00000262304;ENST00000423118;ENST00000306101	.|T;T	.|0.36699	.|1.24;1.24	4.66|4.66	-9.32|-9.32	0.00643|0.00643	.|.	.|0.426344	.|0.23043	.|N	.|0.052595	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|P;P	.|0.43094	.|0.799;0.565	.|B;B	.|0.38755	.|0.281;0.26	T|T	0.17623|0.17623	-1.0363|-1.0363	6|10	0.87932|0.22109	D|T	0|0.4	.|.	1.5523|1.5523	0.02578|0.02578	0.387:0.2541:0.2047:0.1542|0.387:0.2541:0.2047:0.1542	.|.	.|2984;2984	.|P98161-3;P98161	.|.;PKD1_HUMAN	G|R	1222|2984;2984;2319	.|ENSP00000262304:S2984R;ENSP00000399501:S2984R	ENSP00000371921:A1222G|ENSP00000262304:S2984R	A|S	-|-	2|3	0|2	PKD1|PKD1	2092632|2092632	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.030000|0.030000	0.12068|0.12068	-3.929000|-3.929000	0.00332|0.00332	-1.305000|-1.305000	0.02327|0.02327	-0.505000|-0.505000	0.04504|0.04504	GCA|AGC	PKD1	-	NULL		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2152631	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.006	C	C	2152631	G	C	2152631	3	2	35	1	0	0	0	0	1	0	0	0	11987	1310	46	4	4047	4	PKD1	16	2152631	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	1469613	2152631	88202122	80	4985										
USP7	7874	genome.wustl.edu	37	chr16	9017100	9017100	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	agattcagcattgcactggaGaaagaatcctacgctttttt	8	8	1	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:9017100G>C	ENST00000344836.4	-	3	553	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	USP7_ENST00000381886.4_Missense_Mutation_p.L103V|USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Missense_Mutation_p.L20V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	119	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTGCACTGGAGAAAGAATCCT	0.418																																																	0													173	164	167					16																	9017100		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.355C>G	16.37:g.9017100G>C	ENSP00000343535:p.Leu119Val		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.L119V	ENST00000344836.4	37	c.355	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016179	0.75161	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.80304	-1.36;-1.36;-1.36	5.57	5.57	0.84162	TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.72479	2.2	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.55508	0.777;0.777	D	0.87441	0.2395	10	0.56958	D	0.05	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	119;103	Q93009;B7Z815	UBP7_HUMAN;.	V	119;127;20;20;61	ENSP00000343535:L119V;ENSP00000443646:L20V;ENSP00000439272:L61V	ENSP00000343535:L119V	L	-	1	0	USP7	8924601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.793000	0.96121	0.655000	0.94253	CTC	USP7	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.418	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	G			9017100	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9017100	G	C	9017100	3	2	35	1	0	0	0	0	1	0	0	0	17119	942	33	1	3069	1	USP7	16	9017100	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	6864469	9017100	81337653	81	4986										
ACSM5	54988	genome.wustl.edu	37	chr16	20441034	20441034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gcctgaggcactgtctgaccGgaggagaggccctcaaccct	13	14	2	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:20441034G>A	ENST00000331849.4	+	8	1183	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	346					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGTCTGACCGGAGGAGAGGC	0.562																																																	0													95	96	95					16																	20441034		2203	4300	6503	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1036G>A	16.37:g.20441034G>A	ENSP00000327916:p.Gly346Arg		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G346R	ENST00000331849.4	37	c.1036	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204787	0.38905	.	.	ENSG00000183549	ENST00000331849	T	0.58652	0.32	4.4	4.4	0.53042	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000046	T	0.80215	0.4582	H	0.94462	3.54	0.54753	D	0.999987	D	0.60160	0.987	P	0.59643	0.861	D	0.87017	0.2126	10	0.87932	D	0	-12.6387	16.1862	0.81955	0.0:0.0:1.0:0.0	.	346	Q6NUN0	ACSM5_HUMAN	R	346	ENSP00000327916:G346R	ENSP00000327916:G346R	G	+	1	0	ACSM5	20348535	1.000000	0.71417	0.901000	0.35422	0.506000	0.33950	5.907000	0.69908	2.145000	0.66743	0.551000	0.68910	GGA	ACSM5	-	pfam_AMP-dep_Synth/Lig		0.562	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	G	NM_017888		20441034	1	no_errors	ENST00000331849	ensembl	human	known	70_37	missense	SNP	0.996	A	A	20441034	G	A	20441034	3	1	35	1	0	0	0	0	1	0	0	0	187	1117	39	2	1062	2	ACSM5	16	20441034	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	11423934	20441034	69913719	82	4987										
ALOX12B	242	genome.wustl.edu	37	chr17	7982836	7982836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gccctccatgatgcggtagtCggccaggtaaatgttcccct	11	13	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:7982836C>T	ENST00000319144.4	-	8	1209	c.949G>A	c.(949-951)Gac>Aac	p.D317N	AC129492.6_ENST00000399413.3_5'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	317	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATGCGGTAGTCGGCCAGGTAA	0.682										Multiple Myeloma(8;0.094)																																							0													18	15	16					17																	7982836		2120	4131	6251	SO:0001583	missense	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.949G>A	17.37:g.7982836C>T	ENSP00000315167:p.Asp317Asn			Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml	p.D317N	ENST00000319144.4	37	c.949	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.527662	0.96446	.	.	ENSG00000179477	ENST00000319144	D	0.95518	-3.73	4.45	4.45	0.53987	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98753	1.0721	10	0.87932	D	0	-31.9348	16.2694	0.82607	0.0:1.0:0.0:0.0	.	317	O75342	LX12B_HUMAN	N	317	ENSP00000315167:D317N	ENSP00000315167:D317N	D	-	1	0	ALOX12B	7923561	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.532000	0.67154	2.227000	0.72691	0.289000	0.19496	GAC	ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C		0.682	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	C			7982836	-1	no_errors	ENST00000319144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7982836	C	T	7982836	3	4	35	1	0	0	0	0	1	0	0	0	537	884	31	1	1188	1	ALOX12B	17	7982836	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09		7982836	73212374	83	4988										
TEX2	55852	genome.wustl.edu	37	chr17	62291462	62291462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cctcctcctcgccggatgccGagaagtgaatggcgatggta	13	12	0	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:62291462G>A	ENST00000583097.1	-	2	288	c.116C>T	c.(115-117)tCg>tTg	p.S39L	TEX2_ENST00000584379.1_Missense_Mutation_p.S39L|TEX2_ENST00000258991.3_Missense_Mutation_p.S39L			Q8IWB9	TEX2_HUMAN	testis expressed 2	39					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCGGATGCCGAGAAGTGAAT	0.567																																																	0													106	97	100					17																	62291462		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.116C>T	17.37:g.62291462G>A	ENSP00000462665:p.Ser39Leu		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.S39L	ENST00000583097.1	37	c.116		17	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038795	0.35989	.	.	ENSG00000136478	ENST00000258991	T	0.55588	0.51	5.07	4.06	0.47325	.	0.076828	0.53938	N	0.000047	T	0.41926	0.1180	L	0.36672	1.1	0.58432	D	0.999997	B;B	0.26081	0.141;0.087	B;B	0.17098	0.017;0.008	T	0.35943	-0.9768	10	0.62326	D	0.03	-1.9717	12.0708	0.53616	0.0889:0.0:0.9111:0.0	.	39;39	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	39	ENSP00000258991:S39L	ENSP00000258991:S39L	S	-	2	0	TEX2	59645194	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.596000	0.82721	1.064000	0.40671	0.305000	0.20034	TCG	TEX2	-	NULL		0.567	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	G	NM_018469		62291462	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62291462	G	A	62291462	3	1	35	1	0	0	0	0	1	0	0	0	15811	1059	37	1	3332	1	TEX2	17	62291462	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	54308626	62291462	18903748	84	4989										
TMC6	11322	genome.wustl.edu	37	chr17	76121965	76121965	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tgatggcacctcggctgcggCctatggaggcagctgggcag	17	11	0	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:76121965C>A	ENST00000590602.1	-	5	431	c.272G>T	c.(271-273)gGc>gTc	p.G91V	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000322914.3_Splice_Site_p.G91V|TMC6_ENST00000392467.3_Splice_Site_p.G91V|TMC6_ENST00000306591.7_Splice_Site_p.G91V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	91					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCGGCTGCGGCCTATGGAGGC	0.701																																																	0													15	16	16					17																	76121965		2014	3965	5979	SO:0001630	splice_region_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.272-1G>T	17.37:g.76121965C>A			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.G91V	ENST00000590602.1	37	c.272	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939307	0.73557	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.53640	0.61;0.61;0.61	3.84	3.84	0.44239	.	6.253290	0.00397	U	0.000053	T	0.71962	0.3402	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.70016	0.967;0.826	T	0.54255	-0.8321	10	0.87932	D	0	.	15.3687	0.74545	0.0:1.0:0.0:0.0	.	91;91	Q7Z403-2;Q7Z403	.;TMC6_HUMAN	V	91	ENSP00000313408:G91V;ENSP00000376260:G91V;ENSP00000306405:G91V	ENSP00000306405:G91V	G	-	2	0	TMC6	73633560	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	5.008000	0.63991	1.691000	0.51100	0.556000	0.70494	GGC	TMC6	-	NULL		0.701	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	C		Missense_Mutation	76121965	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76121965	C	A	76121965	5	1	35	1	0	0	0	0	0	0	1	0	16019	753	26	4	2209	4	TMC6	17	76121965	Splice_Site	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	13830503	76121965	5073245	85	4990										
SNRPD1	6632	genome.wustl.edu	37	chr18	19203860	19203860	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cctctggatacactacttgtGgatgttgaacctaaggtgaa	10	8	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:19203860G>C	ENST00000300413.5	+	3	406	c.243G>C	c.(241-243)gtG>gtC	p.V81V	SNRPD1_ENST00000579618.1_Missense_Mutation_p.W39S|SNRPD1_ENST00000582475.1_Silent_p.V37V	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	81					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			lung(2)|prostate(1)	3						CACTACTTGTGGATGTTGAAC	0.368																																																	0													60	56	57					18																	19203860		2203	4300	6503	SO:0001819	synonymous_variant	6632			L36188	CCDS32801.1	18q11.2	2011-10-11	2002-08-29		ENSG00000167088	ENSG00000167088			11158	protein-coding gene	gene with protein product		601063	"small nuclear ribonucleoprotein D1 polypeptide (16kD)"	SNRPD		7527560, 1701240	Standard	NM_006938		Approved	HsT2456, Sm-D1	uc002ktj.1	P62314		ENST00000300413.5:c.243G>C	18.37:g.19203860G>C			B5BTZ1|P13641	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom	p.W39S	ENST00000300413.5	37	c.116	CCDS32801.1	18																																																																																			SNRPD1	-	NULL		0.368	SNRPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD1	HGNC	protein_coding	OTTHUMT00000444020.2	G	NM_006938		19203860	1	no_errors	ENST00000579618	ensembl	human	putative	70_37	missense	SNP	1.000	C	C	19203860	G	C	19203860	2	2	35	1	0	0	0	0	0	0	0	1	14894	1335	47	4		4	SNRPD1	18	19203860	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		19203860	58873388	86	4991										
GALNT1	2589	genome.wustl.edu	37	chr18	33257664	33257664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ctgtccatagtgtcattaatCgctcaccaagacacatgata	6	11	2	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:33257664C>T	ENST00000269195.5	+	3	527	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	GALNT1_ENST00000537549.1_Missense_Mutation_p.R82C	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	142	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGTCATTAATCGCTCACCAAG	0.373																																																	0													139	127	131					18																	33257664		2203	4300	6503	SO:0001583	missense	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.424C>T	18.37:g.33257664C>T	ENSP00000269195:p.Arg142Cys		Q86TJ7|Q9UM86	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R142C	ENST00000269195.5	37	c.424	CCDS11915.1	18	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328777	0.81690	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88839	0.3311	10	0.87932	D	0	.	17.1289	0.86722	0.0:1.0:0.0:0.0	.	142	Q10472	GALT1_HUMAN	C	142;142;82	ENSP00000269195:R142C;ENSP00000440910:R82C	ENSP00000269195:R142C	R	+	1	0	GALNT1	31511662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.143000	0.50608	2.625000	0.88918	0.591000	0.81541	CGC	GALNT1	-	pfam_Glyco_trans_2		0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT1	HGNC	protein_coding	OTTHUMT00000255771.2	C	NM_020474		33257664	1	no_errors	ENST00000269195	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33257664	C	T	33257664	3	4	35	1	0	0	0	0	1	0	0	0	6226	884	31	1	434	1	GALNT1	18	33257664	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	14053804	33257664	44819584	87	4992										
PHLPP1	23239	genome.wustl.edu	37	chr18	60646371	60646371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ccgttgggaccattgggcgcCggagggccaatggctctgtt	16	11	1	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:60646371C>T	ENST00000262719.5	+	17	5095	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R1109W			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1621					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CATTGGGCGCCGGAGGGCCAA	0.592																																																	0													30	34	32					18																	60646371		1965	4147	6112	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4861C>T	18.37:g.60646371C>T	ENSP00000262719:p.Arg1621Trp		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.R1621W	ENST00000262719.5	37	c.4861	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069299	0.55539	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.35236	1.57;1.32	4.08	3.11	0.35812	.	.	.	.	.	T	0.49423	0.1556	L	0.44542	1.39	0.50171	D	0.999851	D	0.89917	1.0	D	0.67548	0.952	T	0.55010	-0.8207	9	0.87932	D	0	-14.9656	14.2186	0.65809	0.1597:0.8403:0.0:0.0	.	1621	O60346	PHLP1_HUMAN	W	1109;1621	ENSP00000383170:R1109W;ENSP00000262719:R1621W	ENSP00000262719:R1621W	R	+	1	2	PHLPP1	58797351	0.635000	0.27199	1.000000	0.80357	0.978000	0.69477	1.006000	0.29847	2.115000	0.64714	0.561000	0.74099	CGG	PHLPP1	-	NULL		0.592	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	C	NM_194449		60646371	1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	0.756	T	T	60646371	C	T	60646371	3	4	35	1	0	0	0	0	1	0	0	0	11878	643	23	2	4927	2	PHLPP1	18	60646371	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	27388707	60646371	17430877	88	4993										
SERPINB5	5268	genome.wustl.edu	37	chr18	61156662	61156662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	taaattggaagaaacgaaagGtcagatcaacaactcaatta	7	6	3	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:61156662G>T	ENST00000382771.4	+	4	681	c.389G>T	c.(388-390)gGt>gTt	p.G130V	SERPINB5_ENST00000489441.1_Missense_Mutation_p.G130V	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	130					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAAACGAAAGGTCAGATCAAC	0.393																																																	0													124	116	119					18																	61156662		2203	4300	6503	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.389G>T	18.37:g.61156662G>T	ENSP00000372221:p.Gly130Val		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.G130V	ENST00000382771.4	37	c.389	CCDS32839.1	18	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317383	0.23908	.	.	ENSG00000206075	ENST00000382771	D	0.84223	-1.82	5.75	0.762	0.18454	Serpin domain (3);	1.075970	0.06976	N	0.818927	T	0.75671	0.3881	L	0.39245	1.2	0.19575	N	0.999969	B;B	0.17268	0.001;0.021	B;B	0.10450	0.005;0.004	T	0.59920	-0.7363	10	0.46703	T	0.11	.	0.5872	0.00721	0.2603:0.1205:0.2484:0.3708	.	130;130	P36952;P36952-2	SPB5_HUMAN;.	V	130	ENSP00000372221:G130V	ENSP00000372221:G130V	G	+	2	0	SERPINB5	59307642	0.008000	0.16893	0.387000	0.26183	0.983000	0.72400	0.166000	0.16583	0.130000	0.18549	0.655000	0.94253	GGT	SERPINB5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin		0.393	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB5	HGNC	protein_coding	OTTHUMT00000280629.1	G	NM_002639		61156662	1	no_errors	ENST00000382771	ensembl	human	known	70_37	missense	SNP	0.001	T	T	61156662	G	T	61156662	3	4	35	1	0	0	0	0	1	0	0	0	14134	1261	44	4	399	4	SERPINB5	18	61156662	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	510291	61156662	16920586	89	4994										
GZMM	3004	genome.wustl.edu	37	chr19	549708	549708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ccttcagctccagggtctgcActgacatcttcaagcctccc	7	17	4	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:549708A>C	ENST00000264553.3	+	5	729	c.691A>C	c.(691-693)Act>Cct	p.T231P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	231	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTCTGCACTGACATCTT	0.662																																																	0													100	80	87					19																	549708		2203	4300	6503	SO:0001583	missense	3004				CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.691A>C	19.37:g.549708A>C	ENSP00000264553:p.Thr231Pro			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T231P	ENST00000264553.3	37	c.691	CCDS12031.1	19	.	.	.	.	.	.	.	.	.	.	a	11.63	1.694534	0.30052	.	.	ENSG00000197540	ENST00000264553	D	0.92805	-3.11	3.71	0.103	0.14526	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.576142	0.13108	U	0.413168	D	0.84070	0.5391	N	0.20445	0.575	0.09310	N	1	P	0.35139	0.486	B	0.41946	0.371	T	0.74731	-0.3566	10	0.40728	T	0.16	.	2.2353	0.04006	0.5168:0.0:0.2611:0.2221	.	231	P51124	GRAM_HUMAN	P	231	ENSP00000264553:T231P	ENSP00000264553:T231P	T	+	1	0	GZMM	500708	0.000000	0.05858	0.048000	0.18961	0.005000	0.04900	-0.325000	0.07976	0.432000	0.26286	-0.430000	0.05897	ACT	GZMM	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMM	HGNC	protein_coding	OTTHUMT00000451895.2	A	NM_005317		549708	1	no_errors	ENST00000264553	ensembl	human	known	70_37	missense	SNP	0.001	C	C	549708	A	C	549708	3	2	35	1	0	0	0	0	1	0	0	0	6939	159	6	5	709	5	GZMM	19	549708	Missense_Mutation	SNP	A	TCGA-C5-A2M1-01A-11D-A18J-09		549708	58579275	90	4995										
SBNO2	22904	genome.wustl.edu	37	chr19	1117401	1117401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tgcacagatacttgaagaagCgctggtgtgccgaccagaac	12	10	0	4			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:1117401C>T	ENST00000361757.3	-	15	1862	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SBNO2_ENST00000587024.1_Missense_Mutation_p.R532H|SBNO2_ENST00000438103.2_Missense_Mutation_p.R485H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	542					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAAGAAGCGCTGGTGTGC	0.672																																																	0													19	22	21					19																	1117401		2046	4191	6237	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1625G>A	19.37:g.1117401C>T	ENSP00000354733:p.Arg542His		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.R542H	ENST00000361757.3	37	c.1625	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.290511	0.95546	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.50001	0.76;0.76	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.91140	3.18	0.80722	D	1	D;D;D	0.71674	0.979;0.997;0.998	P;P;D	0.65443	0.726;0.863;0.935	T	0.81457	-0.0924	10	0.87932	D	0	-37.333	16.1952	0.82023	0.0:1.0:0.0:0.0	.	542;542;485	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	H	542;485;566	ENSP00000354733:R542H;ENSP00000400762:R485H	ENSP00000250872:R566H	R	-	2	0	SBNO2	1068401	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.545000	0.82128	2.369000	0.80426	0.462000	0.41574	CGC	SBNO2	-	NULL		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	C	NM_014963		1117401	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1117401	C	T	1117401	3	4	35	1	0	0	0	0	1	0	0	0	13893	768	27	2	2547	2	SBNO2	19	1117401	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	567693	1117401	58011582	91	4996										
ZNF257	113835	genome.wustl.edu	37	chr19	22271066	22271066	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	taagacatactgaaaagaaaActtgcaaatgtaaagaatgt	7	4	0	4			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:22271066A>T	ENST00000594947.1	+	4	658	c.514A>T	c.(514-516)Act>Tct	p.T172S	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAAAAGAAAACTTGCAAATG	0.303																																																	0													39	41	40					19																	22271066		2201	4293	6494	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.514A>T	19.37:g.22271066A>T	ENSP00000470209:p.Thr172Ser		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T172S	ENST00000594947.1	37	c.514	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	A	3.704	-0.060948	0.07317	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.51	0.51	0.16983	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	N	0.00633	-1.31	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24799	-1.0150	8	0.51188	T	0.08	.	3.3046	0.06996	0.5542:0.4457:0.0:1.0E-4	.	172	Q9Y2Q1	ZN257_HUMAN	S	172	.	ENSP00000380312:T172S	T	+	1	0	ZNF257	22062906	0.001000	0.12720	0.004000	0.12327	0.118000	0.20060	-0.460000	0.06720	0.436000	0.26393	0.260000	0.18958	ACT	ZNF257	-	NULL		0.303	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	A			22271066	1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.000	T	T	22271066	A	T	22271066	3	4	35	1	0	0	0	0	1	0	0	0	17830	43	2	5	528	5	ZNF257	19	22271066	Missense_Mutation	SNP	A	TCGA-C5-A2M1-01A-11D-A18J-09	21153665	22271066	36857917	92	4997										
ZNF230	7773	genome.wustl.edu	37	chr19	44514810	44514810	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tgcgtggtaaggaattcagtCagagctcatgtctgcaaact	11	8	4	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:44514810C>T	ENST00000429154.2	+	5	847	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAATTCAGTCAGAGCTCATG	0.443																																					GBM(175;914 2069 22996 47111 52600)												0													98	99	99					19																	44514810		2203	4300	6503	SO:0001587	stop_gained	7773			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.619C>T	19.37:g.44514810C>T	ENSP00000409318:p.Gln207*		O15322|Q504X7|Q86W84|Q9P1U6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q207*	ENST00000429154.2	37	c.619	CCDS33044.1	19	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657850	0.67586	.	.	ENSG00000159882	ENST00000429154	.	.	.	2.59	0.298	0.15766	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.8291	0.18570	0.0:0.6024:0.0:0.3976	.	.	.	.	X	207	.	ENSP00000409318:Q207X	Q	+	1	0	ZNF230	49206650	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.566000	0.05922	-0.004000	0.14419	-0.481000	0.04817	CAG	ZNF230	-	pfscan_Znf_C2H2		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	C			44514810	1	no_errors	ENST00000429154	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	44514810	C	T	44514810	4	4	35	1	0	0	0	0	0	1	0	0	17814	827	29	1	633	1	ZNF230	19	44514810	Nonsense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	22243744	44514810	14614173	93	4998										
EXOC3L2	90332	genome.wustl.edu	37	chr19	45728159	45728159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ggccccacccgggccaggcgCtcggccagagctctgtgggg	17	16	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:45728159C>T	ENST00000252482.3	-	5	444	c.417G>A	c.(415-417)gaG>gaA	p.E139E	EXOC3L2_ENST00000413988.1_Silent_p.E139E			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	139					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGGCCAGGCGCTCGGCCAGAG	0.642																																																	0													16	17	17					19																	45728159		2203	4295	6498	SO:0001819	synonymous_variant	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.417G>A	19.37:g.45728159C>T			Q8N9W2|Q96GV2	Silent	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.E139	ENST00000252482.3	37	c.417	CCDS12657.1	19																																																																																			EXOC3L2	-	pfam_Sec6		0.642	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	C	NM_138568		45728159	-1	no_errors	ENST00000252482	ensembl	human	known	70_37	silent	SNP	0.999	T	T	45728159	C	T	45728159	2	4	35	1	0	0	0	0	0	0	0	1	5317	796	28	4		4	EXOC3L2	19	45728159	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	1213349	45728159	13400824	94	4999										
SYMPK	8189	genome.wustl.edu	37	chr19	46331136	46331136	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gaccacctccagggcactctCtgtgatgagtggcgcctcca	11	15	1	2			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:46331136C>T	ENST00000245934.7	-	15	2270	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	676					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGGCACTCTCTGTGATGAGT	0.672																																																	0													103	102	102					19																	46331136		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2026G>A	19.37:g.46331136C>T	ENSP00000245934:p.Glu676Lys		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.E676K	ENST00000245934.7	37	c.2026	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403871	0.83230	.	.	ENSG00000125755	ENST00000245934	T	0.34667	1.35	5.46	5.46	0.80206	Armadillo-type fold (1);	0.237415	0.42294	D	0.000735	T	0.31513	0.0799	L	0.43923	1.385	0.58432	D	0.999996	P;B	0.37122	0.583;0.004	B;B	0.29785	0.107;0.004	T	0.16958	-1.0385	10	0.62326	D	0.03	.	16.8671	0.86032	0.0:1.0:0.0:0.0	.	691;676	Q4LE61;Q92797	.;SYMPK_HUMAN	K	676	ENSP00000245934:E676K	ENSP00000245934:E676K	E	-	1	0	SYMPK	51022976	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	7.495000	0.81514	2.591000	0.87537	0.650000	0.86243	GAG	SYMPK	-	superfamily_ARM-type_fold		0.672	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46331136	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46331136	C	T	46331136	3	4	35	1	0	0	0	0	1	0	0	0	15469	922	32	1	1850	1	SYMPK	19	46331136	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	602977	46331136	12797847	95	5000										
CYTSA	23384	genome.wustl.edu	37	chr22	24698198	24698198	+	5'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	catcacgaagaggcagcccaGaatgaagaaagcaagcagga	12	9	1	4	rs200111946		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr22:24698198G>C	ENST00000314328.9	+	0	284				SPECC1L-ADORA2A_ENST00000358654.2_5'UTR|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000437398.1_5'UTR|SPECC1L_ENST00000541492.1_5'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like						actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGCAGCCCAGAATGAAGAAA	0.398																																																	0													66	60	62					22																	24698198		2203	4300	6503	SO:0001623	5_prime_UTR_variant	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.-2G>C	22.37:g.24698198G>C			B7Z758|F5H1H6|O15081	RNA	SNP	-	NULL	ENST00000314328.9	37	NULL	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	.	17.79	3.476170	0.63737	.	.	ENSG00000100014	ENST00000398280	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	T	0.72622	0.3483	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68918	-0.5282	5	0.32370	T	0.25	.	18.3166	0.90223	0.0:0.0:1.0:0.0	.	.	.	.	T	28	.	ENSP00000381328:R28T	R	+	2	0	SPECC1L	23028198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.643000	0.89663	0.655000	0.94253	AGA	SPECC1L	-	-		0.398	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	G	NM_015330		24698198	1	no_errors	ENST00000416735	ensembl	human	known	70_37	rna	SNP	1.000	C	C	24698198	G	C	24698198	1	2	35	0	1	0	0	0	0	0	0	0	4214	957	33	1		1	CYTSA	22	24698198	5'UTR	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		24698198	26606368	96	5001										
KCNJ4	3761	genome.wustl.edu	37	chr22	38823295	38823295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	accacgatctcaaagtcctcCgactccagctcctccttgcc	5	19	1	0	rs367619896		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr22:38823295C>T	ENST00000303592.3	-	2	1101	c.843G>A	c.(841-843)tcG>tcA	p.S281S	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	281					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CAAAGTCCTCCGACTCCAGCT	0.627																																																	0								C	,	0,4406		0,0,2203	76	62	67		843,843	-9.9	0.8	22		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNJ4	NM_004981.1,NM_152868.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	281/446,281/446	38823295	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.843G>A	22.37:g.38823295C>T			Q14D44	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.S281	ENST00000303592.3	37	c.843	CCDS13971.1	22																																																																																			KCNJ4	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3		0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	C	NM_004981		38823295	-1	no_errors	ENST00000303592	ensembl	human	known	70_37	silent	SNP	0.312	T	T	38823295	C	T	38823295	2	4	35	1	0	0	0	0	0	0	0	1	8073	639	23	2		2	KCNJ4	22	38823295	Silent	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	14125097	38823295	12481271	97	5002										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39482545	39482545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	gcaccctggccgaggctgggGccaaaatttcaataatgaca	11	11	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr22:39482545G>T	ENST00000407997.3	+	6	1354	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.A333S	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	333	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CGAGGCTGGGGCCAAAATTTC	0.532																																																	0													91	102	98					22																	39482545		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.997G>T	22.37:g.39482545G>T	ENSP00000385057:p.Ala333Ser		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.A333S	ENST00000407997.3	37	c.997	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247591	0.39697	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.64991	-0.13;-0.13	1.51	1.51	0.23008	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.79269	0.4417	M	0.88512	2.96	0.09310	N	1	P	0.42010	0.768	P	0.62435	0.902	T	0.66496	-0.5909	9	0.72032	D	0.01	.	8.982	0.35970	0.0:0.0:1.0:0.0	.	333	Q9HC16	ABC3G_HUMAN	S	333	ENSP00000413376:A333S;ENSP00000385057:A333S	ENSP00000385057:A333S	A	+	1	0	APOBEC3G	37812491	0.914000	0.31030	0.009000	0.14445	0.005000	0.04900	3.133000	0.50531	1.145000	0.42336	0.454000	0.30748	GCC	APOBEC3G	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39482545	1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.049	T	T	39482545	G	T	39482545	3	4	35	1	0	0	0	0	1	0	0	0	794	1203	42	4	1019	4	APOBEC3G	22	39482545	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	659250	39482545	11822021	98	5003										
NLGN4X	57502	genome.wustl.edu	37	chrX	5821213	5821213	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ctgaagagctcggtgggaccGatcatggggatgccgaagac	16	9	1	3			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:5821213G>T	ENST00000381095.3	-	5	2133	c.1506C>A	c.(1504-1506)atC>atA	p.I502I	NLGN4X_ENST00000275857.6_Silent_p.I502I|NLGN4X_ENST00000538097.1_Silent_p.I502I|NLGN4X_ENST00000381093.2_Silent_p.I522I|NLGN4X_ENST00000381092.1_Silent_p.I502I	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	502					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGGTGGGACCGATCATGGGGA	0.537																																																	0													99	83	88					X																	5821213		2203	4300	6503	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1506C>A	X.37:g.5821213G>T			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.I522	ENST00000381095.3	37	c.1566	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821213	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.742	T	T	5821213	G	T	5821213	2	4	35	1	0	0	0	0	0	0	0	1	10488	1048	37	3		3	NLGN4X	23	5821213	Silent	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09		5821213	149449347	99	5004										
CNKSR2	22866	genome.wustl.edu	37	chrX	21444770	21444770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tggaagcagttgaccttctgTgtgcattggtaaggacataa	12	6	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:21444770T>C	ENST00000379510.3	+	2	256	c.220T>C	c.(220-222)Tgt>Cgt	p.C74R	CNKSR2_ENST00000425654.2_Missense_Mutation_p.C74R|CNKSR2_ENST00000543067.1_Missense_Mutation_p.C74R|CNKSR2_ENST00000279451.4_Missense_Mutation_p.C74R	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	74	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGACCTTCTGTGTGCATTGGT	0.448																																																	0													126	117	120					X																	21444770		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.220T>C	X.37:g.21444770T>C	ENSP00000368824:p.Cys74Arg		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.C74R	ENST00000379510.3	37	c.220	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625295	0.46840	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.33	4.12	0.48240	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.37800	1.135	0.80722	D	1	D;D;B	0.67145	0.996;0.992;0.038	D;P;B	0.65987	0.94;0.887;0.038	T	0.24977	-1.0145	10	0.06365	T	0.9	-18.4975	10.7734	0.46336	0.1436:0.0:0.0:0.8564	.	74;74;74	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	R	74	ENSP00000397906:C74R;ENSP00000444633:C74R;ENSP00000279451:C74R;ENSP00000368824:C74R	ENSP00000279451:C74R	C	+	1	0	CNKSR2	21354691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.901000	0.69861	1.761000	0.52028	0.481000	0.45027	TGT	CNKSR2	-	superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.448	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	T	NM_014927		21444770	1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21444770	T	C	21444770	3	2	35	1	0	0	0	0	1	0	0	0	3612	1696	59	5	226	5	CNKSR2	23	21444770	Missense_Mutation	SNP	T	TCGA-C5-A2M1-01A-11D-A18J-09	15623557	21444770	133825790	100	5005										
OTUD5	55593	genome.wustl.edu	37	chrX	48781175	48781175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	caagagctaaaacagtgcctGgggaagggggcttcatgccc	14	10	1	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:48781175G>T	ENST00000156084.4	-	7	1493	c.1433C>A	c.(1432-1434)cCa>cAa	p.P478Q	OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000396743.3_Missense_Mutation_p.P473Q|OTUD5_ENST00000376488.3_Missense_Mutation_p.P473Q|OTUD5_ENST00000428668.2_Missense_Mutation_p.P256Q	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	478					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AACAGTGCCTGGGGAAGGGGG	0.622																																																	0													62	60	61					X																	48781175		2203	4300	6503	SO:0001583	missense	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1433C>A	X.37:g.48781175G>T	ENSP00000156084:p.Pro478Gln		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.P478Q	ENST00000156084.4	37	c.1433	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	G	16.50	3.142105	0.57044	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.62723	1.935	0.46416	D	0.999036	P;P;P	0.50943	0.94;0.838;0.899	B;B;B	0.42959	0.403;0.202;0.367	T	0.51857	-0.8652	10	0.72032	D	0.01	-15.8988	13.2163	0.59863	0.0:0.0:1.0:0.0	.	256;478;473	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	Q	473;449;351;478;473;256	ENSP00000379969:P473Q;ENSP00000390767:P351Q;ENSP00000156084:P478Q;ENSP00000365671:P473Q;ENSP00000401629:P256Q	ENSP00000156084:P478Q	P	-	2	0	OTUD5	48666119	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	7.739000	0.84976	2.351000	0.79841	0.523000	0.50628	CCA	OTUD5	-	NULL		0.622	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	G	NM_017602		48781175	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48781175	G	T	48781175	3	4	35	1	0	0	0	0	1	0	0	0	11339	1348	47	4	294	4	OTUD5	23	48781175	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	27336405	48781175	106489385	101	5006										
GRIPAP1	56850	genome.wustl.edu	37	chrX	48839723	48839723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	tcggagctcacgctcatagcGggcacgcacccccagcacct	10	18	2	0			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:48839723G>A	ENST00000376441.1	-	16	1436	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R437C|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R415C|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R423C	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	468						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGCTCATAGCGGGCACGCACC	0.587																																																	0													116	82	93					X																	48839723		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1402C>T	X.37:g.48839723G>A	ENSP00000365624:p.Arg468Cys		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R468C	ENST00000376441.1	37	c.1402	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	-	14.18	2.459083	0.43634	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.26	4.26	0.50523	.	0.165039	0.39834	N	0.001245	T	0.31420	0.0796	N	0.24115	0.695	0.41843	D	0.990138	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.63113	0.905;0.911;0.862	T	0.10314	-1.0635	10	0.66056	D	0.02	0.0104	10.3419	0.43884	0.0:0.0:0.8032:0.1968	.	415;358;468	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	C	437;423;468;437;415	ENSP00000365608:R437C;ENSP00000365627:R423C;ENSP00000365624:R468C;ENSP00000365606:R415C	ENSP00000365606:R415C	R	-	1	0	GRIPAP1	48724667	1.000000	0.71417	0.182000	0.23118	0.079000	0.17450	4.238000	0.58688	1.742000	0.51746	0.471000	0.43371	CGC	GRIPAP1	-	NULL		0.587	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	G	NM_207672		48839723	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	missense	SNP	0.997	A	A	48839723	G	A	48839723	3	1	35	1	0	0	0	0	1	0	0	0	6809	1116	39	2	1221	2	GRIPAP1	23	48839723	Missense_Mutation	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	58548	48839723	106430837	102	5007										
GPR112	139378	genome.wustl.edu	37	chrX	135431359	135431359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	catccagtgcaactctacccTctttgacatcatttgtttat	4	12	3	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:135431359T>A	ENST00000394143.1	+	6	5785	c.5494T>A	c.(5494-5496)Tct>Act	p.S1832T	GPR112_ENST00000370652.1_Missense_Mutation_p.S1832T|GPR112_ENST00000394141.1_Missense_Mutation_p.S1627T|GPR112_ENST00000287534.4_Missense_Mutation_p.S1769T|GPR112_ENST00000412101.1_Missense_Mutation_p.S1627T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1832					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTCTACCCTCTTTGACATC	0.433																																																	0													142	124	130					X																	135431359		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5494T>A	X.37:g.135431359T>A	ENSP00000377699:p.Ser1832Thr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1832T	ENST00000394143.1	37	c.5494	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	t	13.08	2.131251	0.37630	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33654	1.43;1.43;1.4;1.53;1.4	3.37	0.98	0.19750	.	.	.	.	.	T	0.34279	0.0892	L	0.27053	0.805	0.09310	N	1	D;D;P	0.64830	0.994;0.994;0.9	P;P;B	0.60609	0.877;0.828;0.211	T	0.16689	-1.0394	9	0.23302	T	0.38	.	4.2805	0.10831	0.0:0.325:0.0:0.675	.	1769;1627;1832	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1832;1832;1627;1769;1627	ENSP00000377699:S1832T;ENSP00000359686:S1832T;ENSP00000416526:S1627T;ENSP00000287534:S1769T;ENSP00000377697:S1627T	ENSP00000287534:S1769T	S	+	1	0	GPR112	135259025	0.015000	0.18098	0.006000	0.13384	0.002000	0.02628	0.812000	0.27211	0.344000	0.23847	-0.460000	0.05396	TCT	GPR112	-	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	T			135431359	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.009	A	A	135431359	T	A	135431359	3	1	35	1	0	0	0	0	1	0	0	0	6648	1551	54	5	5504	5	GPR112	23	135431359	Missense_Mutation	SNP	T	TCGA-C5-A2M1-01A-11D-A18J-09	86591636	135431359	19839201	103	5008										
SLC6A8	6535	genome.wustl.edu	37	chrX	152957007	152957007	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	cccctgtcatcgagttctggGagtgagtccggcacctctgg	13	13	3	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:152957007G>T	ENST00000253122.5	+	3	1119	c.643G>T	c.(643-645)Gag>Tag	p.E215*	SLC6A8_ENST00000430077.2_Splice_Site_p.E100*	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	215					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CGAGTTCTGGGAGTGAGTCCG	0.647																																																	0													99	99	99					X																	152957007		2203	4300	6503	SO:0001630	splice_region_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.644+1G>T	X.37:g.152957007G>T			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.E215*	ENST00000253122.5	37	c.643	CCDS14726.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	38|38	6.933262|6.933262	0.97944|0.97944	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077|ENST00000429147	.|.	.|.	.|.	3.83|3.83	3.83|3.83	0.44106|0.44106	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62865	.|0.2463	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70828	.|-0.4766	.|3	0.51188|.	T|.	0.08|.	.|.	13.8696|13.8696	0.63610|0.63610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	215;100|31	.|.	ENSP00000253122:E215X|.	E|G	+|+	1|2	0|0	SLC6A8|SLC6A8	152610201|152610201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	7.598000|7.598000	0.82745|0.82745	1.751000|1.751000	0.51876|0.51876	0.436000|0.436000	0.28706|0.28706	GAG|GGA	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.647	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	G		Nonsense_Mutation	152957007	1	no_errors	ENST00000253122	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	152957007	G	T	152957007	5	4	35	1	0	0	0	0	0	0	1	0	14720	1188	41	3	653	3	SLC6A8	23	152957007	Splice_Site	SNP	G	TCGA-C5-A2M1-01A-11D-A18J-09	17525648	152957007	2313553	104	5009										
SPRY3	10251	genome.wustl.edu	37	chrX	155003760	155003760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.285714285714286	30	7.383436541231e-08	2.9008076391058	4.4580833190468	2.3528773072747	0.203542214806153	0.438746551915485	20	ccatcaactgcagcccttgcCtcagcatctgagccaatcta	6	16	4	1			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:155003760C>T	ENST00000302805.2	+	2	658	c.227C>T	c.(226-228)cCt>cTt	p.P76L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	76					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGCCCTTGCCTCAGCATCTG	0.542																																																	0													238	200	213					X																	155003760		2203	4296	6499	SO:0001583	missense	10251			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.227C>T	X.37:g.155003760C>T	ENSP00000302978:p.Pro76Leu		A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.P76L	ENST00000302805.2	37	c.227	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	C	9.875	1.199918	0.22121	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.54866	0.55	3.14	3.14	0.36123	.	0.324210	0.28736	N	0.014317	T	0.31136	0.0787	.	.	.	0.09310	N	1	B;B	0.16166	0.016;0.009	B;B	0.06405	0.002;0.001	T	0.09422	-1.0675	9	0.20519	T	0.43	-26.0596	7.098	0.25321	0.2681:0.7318:0.0:0.0	.	76;76	Q6ZUP3;O43610	.;SPY3_HUMAN	L	76	ENSP00000302978:P76L	ENSP00000302978:P76L	P	+	2	0	SPRY3	154656954	0.137000	0.22531	1.000000	0.80357	0.980000	0.70556	0.730000	0.26043	1.593000	0.50029	0.279000	0.19357	CCT	SPRY3	-	NULL		0.542	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	C	NM_005840		155003760	1	no_errors	ENST00000302805	ensembl	human	known	70_37	missense	SNP	0.998	T	T	155003760	C	T	155003760	3	4	35	1	0	0	0	0	1	0	0	0	15137	681	24	4	229	4	SPRY3	23	155003760	Missense_Mutation	SNP	C	TCGA-C5-A2M1-01A-11D-A18J-09	2046753	155003760	266800	105	5010										
CROCC	9696	genome.wustl.edu	37	chr1	17265601	17265601	+	Frame_Shift_Del	DEL	C	C	-													0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tcctccacgctcgccctgatCcactccgccctgcacaagcg					rs146792981	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:17265601delC	ENST00000375541.5	+	12	1641	c.1572delC	c.(1570-1572)atcfs	p.I524fs	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCGCCCTGATCCACTCCGCCC	0.751																																																	0													6	6	6					1																	17265601		2025	3910	5935	SO:0001589	frameshift_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1572delC	1.37:g.17265601delC	ENSP00000364691:p.Ile524fs			Frame_Shift_Del	DEL	superfamily_Prefoldin,superfamily_t-SNARE	p.H525fs	ENST00000375541.5	37	c.1572	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.751	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	C	NM_014675		17265601	1	no_errors	ENST00000375541	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-	-	17265601	C	-	17265601	7	5	36	1	0	1	0	1	0	0	0	0	3898	845	30	0	1618	0	CROCC	1	17265601	Frame_Shift_Del	DEL	C	TCGA-C5-A2M2-01A-21D-A18J-09		17265601	231985020	1	5011										
CLCA2	9635	genome.wustl.edu	37	chr1	86921139	86921139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gaatcatttgccttattataGttgtgacacatcatacttta	5	7	2	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:86921139G>T	ENST00000370565.4	+	14	2923	c.2761G>T	c.(2761-2763)Gtt>Ttt	p.V921F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	921					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTATTATAGTTGTGACACA	0.338																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													92	100	97					1																	86921139		2203	4300	6503	SO:0001583	missense	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2761G>T	1.37:g.86921139G>T	ENSP00000359596:p.Val921Phe		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V921F	ENST00000370565.4	37	c.2761	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494054	0.12702	.	.	ENSG00000137975	ENST00000370565	T	0.03181	4.02	5.62	2.4	0.29515	.	0.569682	0.17321	N	0.178514	T	0.01092	0.0036	L	0.55481	1.735	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48139	-0.9061	10	0.11794	T	0.64	-7.9438	6.1942	0.20540	0.2937:0.0:0.5709:0.1354	.	921	Q9UQC9	CLCA2_HUMAN	F	921	ENSP00000359596:V921F	ENSP00000359596:V921F	V	+	1	0	CLCA2	86693727	0.089000	0.21612	0.357000	0.25798	0.851000	0.48451	0.369000	0.20416	0.739000	0.32628	0.591000	0.81541	GTT	CLCA2	-	NULL		0.338	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	G	NM_006536		86921139	1	no_errors	ENST00000370565	ensembl	human	known	70_37	missense	SNP	0.068	T	T	86921139	G	T	86921139	3	4	36	1	0	0	0	0	1	0	0	0	3463	1029	36	4	2815	4	CLCA2	1	86921139	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	69655538	86921139	162329482	2	5012										
WNT2B	7482	genome.wustl.edu	37	chr1	113057560	113057560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ctggtttggtgagccggcagCggcagctgtgccagcgttac	16	11	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:113057560C>T	ENST00000369684.4	+	2	732	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R64W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	83					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGCCGGCAGCGGCAGCTGTG	0.602																																																	0													93	86	88					1																	113057560		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.247C>T	1.37:g.113057560C>T	ENSP00000358698:p.Arg83Trp		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.R83W	ENST00000369684.4	37	c.247	CCDS847.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089922	0.76756	.	.	ENSG00000134245	ENST00000369686;ENST00000369684	T;T	0.77620	-1.11;-1.11	5.3	5.3	0.74995	.	0.047258	0.85682	D	0.000000	D	0.89798	0.6819	H	0.95745	3.715	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92132	0.5713	10	0.87932	D	0	.	12.6901	0.56970	0.2738:0.7262:0.0:0.0	.	83;64	Q93097;Q93097-2	WNT2B_HUMAN;.	W	64;83	ENSP00000358700:R64W;ENSP00000358698:R83W	ENSP00000358698:R83W	R	+	1	2	WNT2B	112859083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.468000	0.35332	2.474000	0.83562	0.561000	0.74099	CGG	WNT2B	-	pfam_Wnt,smart_Wnt		0.602	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1	C	NM_004185		113057560	1	no_errors	ENST00000369684	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113057560	C	T	113057560	3	4	36	1	0	0	0	0	1	0	0	0	17418	759	27	2	386	2	WNT2B	1	113057560	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	26136421	113057560	136193061	3	5013										
FAM163A	148753	genome.wustl.edu	37	chr1	179783311	179783311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	caccaatccaagggctattaGtacagacgtgtaaatccttc	7	11	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:179783311G>T	ENST00000341785.4	+	5	887	c.491G>T	c.(490-492)aGt>aTt	p.S164I	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	164						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGGCTATTAGTACAGACGTG	0.627																																																	0													60	70	67					1																	179783311		2203	4300	6503	SO:0001583	missense	148753			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.491G>T	1.37:g.179783311G>T	ENSP00000354891:p.Ser164Ile		A8K8R7	Missense_Mutation	SNP	NULL	p.S164I	ENST00000341785.4	37	c.491	CCDS1333.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632928	0.67015	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80322	-0.1431	9	0.87932	D	0	-8.8189	15.9984	0.80268	0.0:0.0:1.0:0.0	.	164	Q96GL9	F163A_HUMAN	I	164	.	ENSP00000354891:S164I	S	+	2	0	FAM163A	178049934	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.218000	0.89768	2.384000	0.81235	0.655000	0.94253	AGT	FAM163A	-	NULL		0.627	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	HGNC	protein_coding	OTTHUMT00000085300.1	G	NM_173509		179783311	1	no_errors	ENST00000341785	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179783311	G	T	179783311	3	4	36	1	0	0	0	0	1	0	0	0	5491	1029	36	4	497	4	FAM163A	1	179783311	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	66725751	179783311	69467310	4	5014										
BCL2L11	10018	genome.wustl.edu	37	chr2	111907704	111907704	+	Frame_Shift_Del	DEL	A	A	-													0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ggcgtattggagacgagtttAacgcttactatgcaaggagg							TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr2:111907704delA	ENST00000393256.3	+	3	751	c.478delA	c.(478-480)aacfs	p.N160fs	BCL2L11_ENST00000393253.2_Frame_Shift_Del_p.N70fs|BCL2L11_ENST00000308659.8_Frame_Shift_Del_p.N100fs|BCL2L11_ENST00000357757.2_Frame_Shift_Del_p.N160fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	160					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGACGAGTTTAACGCTTACTA	0.463																																																	0													165	123	137					2																	111907704		2203	4300	6503	SO:0001589	frameshift_variant	10018			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.478delA	2.37:g.111907704delA	ENSP00000376943:p.Asn160fs		A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Del	DEL	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.N160fs	ENST00000393256.3	37	c.478	CCDS2089.1	2																																																																																			BCL2L11	-	pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11		0.463	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	A			111907704	1	no_errors	ENST00000393256	ensembl	human	known	70_37	frame_shift_del	DEL	0.983	-	-	111907704	A	-	111907704	7	5	36	1	0	1	0	1	0	0	0	0	1370	362	13	0	613	0	BCL2L11	2	111907704	Frame_Shift_Del	DEL	A	TCGA-C5-A2M2-01A-21D-A18J-09		111907704	131291669	5	5015										
NCL	4691	genome.wustl.edu	37	chr2	232323043	232323043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cttcaaacacttctttcaatTcatcctgagtgactttgtaa	4	10	4	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr2:232323043T>C	ENST00000322723.4	-	8	1463	c.1223A>G	c.(1222-1224)gAa>gGa	p.E408G	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	408	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCTTTCAATTCATCCTGAGT	0.383																																																	0													103	100	101					2																	232323043		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1223A>G	2.37:g.232323043T>C	ENSP00000318195:p.Glu408Gly		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E408G	ENST00000322723.4	37	c.1223	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736596	0.89482	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000356936	T;T	0.76839	2.14;-1.05	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092890	0.64402	D	0.000001	D	0.84329	0.5448	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	D	0.63033	0.91	D	0.84937	0.0863	10	0.52906	T	0.07	-18.3438	14.1198	0.65180	0.0:0.0:0.0:1.0	.	408	P19338	NUCL_HUMAN	G	408;300;9	ENSP00000318195:E408G;ENSP00000349410:E9G	ENSP00000318195:E408G	E	-	2	0	NCL	232031287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.448000	0.73469	2.268000	0.75426	0.456000	0.33151	GAA	NCL	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.383	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	T	NM_005381		232323043	-1	no_errors	ENST00000322723	ensembl	human	known	70_37	missense	SNP	0.997	C	C	232323043	T	C	232323043	3	2	36	1	0	0	0	0	1	0	0	0	10250	1783	62	5	937	5	NCL	2	232323043	Missense_Mutation	SNP	T	TCGA-C5-A2M2-01A-21D-A18J-09	120415339	232323043	10876330	6	5016										
MUC4	4585	genome.wustl.edu	37	chr3	195488431	195488431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ccattgggcatcctgaagtcGtcctctggattgttattcca	9	11	1	1	rs544362323		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr3:195488431G>A	ENST00000346145.4	-	14	1869	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	MUC4_ENST00000463781.3_Silent_p.D4846D|MUC4_ENST00000475231.1_Silent_p.D4794D|MUC4_ENST00000349607.4_Silent_p.D559D	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTGAAGTCGTCCTCTGGAT	0.622													.|||	1	0.000199681	0	0	5008	,	,		16777	0		0	False		,,,				2504	0.001																0													115	116	116					3																	195488431		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1830C>T	3.37:g.195488431G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.D4846	ENST00000346145.4	37	c.14538	CCDS3310.1	3																																																																																			MUC4	-	pfam_VWF_type-D,smart_VWF_type-D		0.622	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195488431	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.913	A	A	195488431	G	A	195488431	2	1	36	1	0	0	0	0	0	0	0	1	10001	1136	40	2		2	MUC4	3	195488431	Silent	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		195488431	2533999	7	5017										
GFRA3	2676	genome.wustl.edu	37	chr5	137589844	137589844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gggtctggaaatccaccaggCgtgatctggaagaagggaaa	15	7	2	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:137589844C>T	ENST00000274721.3	-	5	1037	c.791G>A	c.(790-792)cGc>cAc	p.R264H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R233H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	264					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATCCACCAGGCGTGATCTGGA	0.473																																																	0													112	109	110					5																	137589844		2203	4300	6503	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.791G>A	5.37:g.137589844C>T	ENSP00000274721:p.Arg264His		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.R264H	ENST00000274721.3	37	c.791	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208623	0.79240	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64085	-0.08;-0.08	4.36	4.36	0.52297	GDNF/GAS1 (2);	0.058175	0.64402	D	0.000003	T	0.73690	0.3619	L	0.59436	1.845	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74375	-0.3686	10	0.49607	T	0.09	-31.5761	12.2504	0.54595	0.0:1.0:0.0:0.0	.	233;264	O60609-2;O60609	.;GFRA3_HUMAN	H	264;233	ENSP00000274721:R264H;ENSP00000367613:R233H	ENSP00000274721:R264H	R	-	2	0	GFRA3	137617743	1.000000	0.71417	0.982000	0.44146	0.891000	0.51852	3.380000	0.52448	2.245000	0.73994	0.650000	0.86243	CGC	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt		0.473	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	C	NM_001496		137589844	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137589844	C	T	137589844	3	4	36	1	0	0	0	0	1	0	0	0	6368	768	27	2	427	2	GFRA3	5	137589844	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		137589844	43325416	8	5018										
PCDHA6	56142	genome.wustl.edu	37	chr5	140209165	140209165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	20	11	0	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:140209165C>T	ENST00000529310.1	+	1	1603	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R497W|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																																	0													46	55	52					5																	140209165		2202	4293	6495	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1489C>T	5.37:g.140209165C>T	ENSP00000433378:p.Arg497Trp		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R497W	ENST00000529310.1	37	c.1489	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426055	0.43020	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.52295	0.67;0.67	3.72	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.222920	0.20630	U	0.088606	T	0.59074	0.2167	M	0.62723	1.935	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.977;0.986;0.983	T	0.43766	-0.9371	10	0.87932	D	0	.	5.9617	0.19303	0.3319:0.4934:0.1747:0.0	.	497;497;497	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	497	ENSP00000433378:R497W;ENSP00000434113:R497W	ENSP00000434113:R497W	R	+	1	2	PCDHA6	140189349	0.986000	0.35501	1.000000	0.80357	0.739000	0.42172	0.473000	0.22132	2.061000	0.61500	0.313000	0.20887	CGG	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140209165	1	no_errors	ENST00000529310	ensembl	human	known	70_37	missense	SNP	0.192	T	T	140209165	C	T	140209165	3	4	36	1	0	0	0	0	1	0	0	0	11552	759	27	2	1491	2	PCDHA6	5	140209165	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	2619321	140209165	40706095	9	5019										
TCOF1	6949	genome.wustl.edu	37	chr5	149754216	149754216	+	Frame_Shift_Del	DEL	G	G	-													0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	aaacctctcaggtcggagctGcctcagcccctgccaaggag					rs112039991	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:149754216delG	ENST00000504761.2	+	9	1120	c.1120delG	c.(1120-1122)gccfs	p.A374fs	TCOF1_ENST00000513346.1_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000377797.3_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000445265.2_Frame_Shift_Del_p.A297fs|TCOF1_ENST00000439160.2_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000451292.1_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000394269.3_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000323668.7_Frame_Shift_Del_p.A297fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	374					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCGGAGCTGCCTCAGCCCC	0.642																																																	0													45	52	49					5																	149754216		2202	4297	6499	SO:0001589	frameshift_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1120delG	5.37:g.149754216delG	ENSP00000421655:p.Ala374fs		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Del	DEL	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A374fs	ENST00000504761.2	37	c.1120	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle		0.642	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149754216	1	no_errors	ENST00000451292	ensembl	human	known	70_37	frame_shift_del	DEL	0.462	-	-	149754216	G	-	149754216	7	5	36	1	0	1	0	1	0	0	0	0	15738	1319	46	0	1154	0	TCOF1	5	149754216	Frame_Shift_Del	DEL	G	TCGA-C5-A2M2-01A-21D-A18J-09	9545051	149754216	31161044	10	5020										
FLT4	2324	genome.wustl.edu	37	chr5	180058719	180058719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gctgtcaccggtgtcgatgaCgtgtgactcctccgtgatgt	13	11	1	3			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:180058719C>T	ENST00000261937.6	-	2	196	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.V40I|FLT4_ENST00000393347.3_Missense_Mutation_p.V40I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	40	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTCGATGACGTGTGACTCC	0.637																																					Colon(97;1075 1466 27033 27547 35871)												0													116	96	103					5																	180058719		2202	4300	6502	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.118G>A	5.37:g.180058719C>T	ENSP00000261937:p.Val40Ile		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.V40I	ENST00000261937.6	37	c.118	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264253	0.23136	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.25579	1.79;1.79;1.79	4.44	-1.0	0.10196	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11665	0.0284	N	0.25201	0.72	0.44373	D	0.997272	P;P;P;B;B	0.45827	0.867;0.675;0.624;0.034;0.034	B;B;B;B;B	0.35931	0.214;0.176;0.172;0.045;0.027	T	0.28299	-1.0048	9	0.17832	T	0.49	.	8.8443	0.35162	0.0:0.5992:0.0:0.4008	.	40;40;40;40;40	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	I	40	ENSP00000261937:V40I;ENSP00000377016:V40I;ENSP00000426057:V40I	ENSP00000261937:V40I	V	-	1	0	FLT4	179991325	0.029000	0.19370	0.013000	0.15412	0.287000	0.27160	-0.302000	0.08221	-0.506000	0.06558	0.555000	0.69702	GTC	FLT4	-	smart_Ig_sub,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180058719	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	0.937	T	T	180058719	C	T	180058719	3	4	36	1	0	0	0	0	1	0	0	0	5962	536	19	2	4097	2	FLT4	5	180058719	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	30304503	180058719	856541	11	5021										
MDGA1	266727	genome.wustl.edu	37	chr6	37605156	37605156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agctctcatcatctctgcaaCgccaagaggaagatggccat	9	12	3	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:37605156C>T	ENST00000434837.3	-	17	4034	c.2856G>A	c.(2854-2856)gcG>gcA	p.A952A	MDGA1_ENST00000297153.7_Silent_p.A956A	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	952					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.A954A(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATCTCTGCAACGCCAAGAGGA	0.637																																																	1	Substitution - coding silent(1)	lung(1)											41	46	45					6																	37605156		2037	4177	6214	SO:0001819	synonymous_variant	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2856G>A	6.37:g.37605156C>T			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.A956	ENST00000434837.3	37	c.2868	CCDS47417.1	6																																																																																			MDGA1	-	NULL		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	C			37605156	-1	no_errors	ENST00000297153	ensembl	human	known	70_37	silent	SNP	0.855	T	T	37605156	C	T	37605156	2	4	36	1	0	0	0	0	0	0	0	1	9429	523	19	2		2	MDGA1	6	37605156	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		37605156	133509911	12	5022										
ABCC10	89845	genome.wustl.edu	37	chr6	43412981	43412981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tctgcacccttctccgggcaGtgctctttgcagcaggcacc	10	16	3	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:43412981G>T	ENST00000372530.4	+	14	3174	c.2959G>T	c.(2959-2961)Gtg>Ttg	p.V987L	ABCC10_ENST00000244533.3_Missense_Mutation_p.V959L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	987	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTCCGGGCAGTGCTCTTTGC	0.607																																																	0													72	54	60					6																	43412981		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2959G>T	6.37:g.43412981G>T	ENSP00000361608:p.Val987Leu		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V987L	ENST00000372530.4	37	c.2959	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556096	0.45487	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90563	-2.68;-2.69	4.69	2.81	0.32909	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.141120	0.47852	D	0.000202	T	0.58250	0.2109	N	0.05574	-0.02	0.34322	D	0.686715	B;B	0.15141	0.001;0.012	B;B	0.14578	0.003;0.011	T	0.52223	-0.8604	10	0.10636	T	0.68	-34.1719	2.8506	0.05556	0.0945:0.1308:0.4513:0.3234	.	959;987	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	987;959	ENSP00000361608:V987L;ENSP00000244533:V959L	ENSP00000244533:V959L	V	+	1	0	ABCC10	43520959	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.032000	0.49736	2.428000	0.82296	0.563000	0.77884	GTG	ABCC10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.607	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	G	NM_033450		43412981	1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43412981	G	T	43412981	3	4	36	1	0	0	0	0	1	0	0	0	50	1029	36	4	2921	4	ABCC10	6	43412981	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	5807825	43412981	127702086	13	5023										
DSE	29940	genome.wustl.edu	37	chr6	116720653	116720653	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gctgtgcacacgatgctgtcCagccccttggaatacctccc	9	16	0	0	rs143347973		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:116720653C>G	ENST00000331677.3	+	3	684	c.240C>G	c.(238-240)tcC>tcG	p.S80S	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Silent_p.S99S|DSE_ENST00000359564.2_Silent_p.S80S|DSE_ENST00000452085.3_Silent_p.S80S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	80					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CGATGCTGTCCAGCCCCTTGG	0.587																																																	0													44	41	42					6																	116720653		2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.240C>G	6.37:g.116720653C>G			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.S99	ENST00000331677.3	37	c.297	CCDS5107.1	6																																																																																			DSE	-	superfamily_Chondroitin_lyas		0.587	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116720653	1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	1.000	G	G	116720653	C	G	116720653	2	3	36	1	0	0	0	0	0	0	0	1	4784	581	21	4		4	DSE	6	116720653	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	73307672	116720653	54394414	14	5024										
IFNGR1	3459	genome.wustl.edu	37	chr6	137519504	137519505	+	Frame_Shift_Ins	INS	-	-	CT													0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tactacttaaaggtgaagaaINSctctctctctctattggagt							TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:137519504_137519505insCT	ENST00000367739.4	-	7	1254_1255	c.1133_1134insAG	c.(1132-1134)agtfs	p.S378fs	IFNGR1_ENST00000543628.1_Frame_Shift_Ins_p.S350fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	378					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AAGGTGAAGAACTCTCTCTCTC	0.431																																																	0																																										SO:0001589	frameshift_variant	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133dupAG	6.37:g.137519513_137519514dupCT	ENSP00000356713:p.Ser378fs		B4DFT7|E1P587|Q53Y96	Frame_Shift_Ins	INS	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S378fs	ENST00000367739.4	37	c.1134_1133	CCDS5185.1	6																																																																																			IFNGR1	-	NULL		0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	-			137519505	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	frame_shift_ins	INS	0.036:0.000	CT	CT	137519505	-	CT	137519504	7	5	36	1	0	1	1	0	0	0	0	0	7569	40	2	0	339	0	IFNGR1	6	137519504	Frame_Shift_Ins	INS	-	TCGA-C5-A2M2-01A-21D-A18J-09	20798851	137519504	33595563	15	5025										
TNFAIP3	7128	genome.wustl.edu	37	chr6	138192623	138192623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agaagaaactcaactggtgtCgagaagtccggaagcttgtg	13	7	1	3			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:138192623C>G	ENST00000237289.4	+	2	325	c.259C>G	c.(259-261)Cga>Gga	p.R87G		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	87	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAACTGGTGTCGAGAAGTCCG	0.512			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											156	145	149					6																	138192623		2203	4300	6503	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.259C>G	6.37:g.138192623C>G	ENSP00000237289:p.Arg87Gly		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R87G	ENST00000237289.4	37	c.259	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373247	0.61624	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000433680;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.32023	1.47;1.83	6.08	6.08	0.98989	.	0.064020	0.64402	D	0.000007	T	0.15046	0.0363	L	0.34521	1.04	0.53688	D	0.999972	B	0.22604	0.072	B	0.11329	0.006	T	0.02070	-1.1219	10	0.72032	D	0.01	-7.7549	14.6404	0.68720	0.1539:0.8461:0.0:0.0	.	87	P21580	TNAP3_HUMAN	G	87	ENSP00000401562:R87G;ENSP00000237289:R87G	ENSP00000237289:R87G	R	+	1	2	TNFAIP3	138234316	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.786000	0.47790	2.890000	0.99128	0.655000	0.94253	CGA	TNFAIP3	-	NULL		0.512	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	C			138192623	1	no_errors	ENST00000237289	ensembl	human	known	70_37	missense	SNP	1.000	G	G	138192623	C	G	138192623	3	3	36	1	0	0	0	0	1	0	0	0	16304	876	31	1	261	1	TNFAIP3	6	138192623	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	673119	138192623	32922444	16	5026										
MICALL2	79778	genome.wustl.edu	37	chr7	1484568	1484568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agctgccactcggggggctcCcccaccctggggtgtggccg	16	16	0	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:1484568C>T	ENST00000297508.7	-	6	1313	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	MICALL2_ENST00000405088.4_Missense_Mutation_p.G168R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	380	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CGGGGGGCTCCCCCACCCTGG	0.721																																																	0													4	5	5					7																	1484568		1907	3871	5778	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1138G>A	7.37:g.1484568C>T	ENSP00000297508:p.Gly380Arg		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.G380R	ENST00000297508.7	37	c.1138	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041318	0.19669	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.68025	2.6;-0.3	4.45	0.0572	0.14322	.	1.981660	0.03292	N	0.187767	T	0.44350	0.1289	N	0.14661	0.345	0.09310	N	1	P	0.35982	0.531	B	0.28139	0.086	T	0.35475	-0.9787	10	0.37606	T	0.19	.	4.1896	0.10414	0.1611:0.537:0.0:0.3019	.	380	Q8IY33	MILK2_HUMAN	R	168;380	ENSP00000385928:G168R;ENSP00000297508:G380R	ENSP00000297508:G380R	G	-	1	0	MICALL2	1451094	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.362000	0.20284	0.080000	0.16959	0.561000	0.74099	GGA	MICALL2	-	NULL		0.721	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	C	NM_182924		1484568	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1484568	C	T	1484568	3	4	36	1	0	0	0	0	1	0	0	0	9597	632	22	4	1624	4	MICALL2	7	1484568	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		1484568	157654095	17	5027										
HDAC9	9734	genome.wustl.edu	37	chr7	18868819	18868819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gtgaggccccctggccatcaCgctgaagaatccacagccat	10	15	1	3	rs371902064		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:18868819C>T	ENST00000432645.2	+	17	2349	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	HDAC9_ENST00000441542.2_Silent_p.H786H|HDAC9_ENST00000401921.1_Silent_p.H742H|HDAC9_ENST00000406451.4_Silent_p.H783H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	783	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGCCATCACGCTGAAGAAT	0.527																																																	0								C	,,	0,3972		0,0,1986	138	132	134		2349,2349,2358	-8.1	0.7	7		134	6,8302		0,6,4148	no	coding-synonymous,coding-synonymous,coding-synonymous	HDAC9	NM_058176.2,NM_178423.1,NM_178425.2	,,	0,6,6134	TT,TC,CC		0.0722,0.0,0.0489	,,	783/1012,783/1067,786/1070	18868819	6,12274	1986	4154	6140	SO:0001819	synonymous_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2349C>T	7.37:g.18868819C>T			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.H786	ENST00000432645.2	37	c.2358	CCDS47555.1	7																																																																																			HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse		0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	C			18868819	1	no_errors	ENST00000441542	ensembl	human	known	70_37	silent	SNP	0.743	T	T	18868819	C	T	18868819	2	4	36	1	0	0	0	0	0	0	0	1	7034	535	19	2		2	HDAC9	7	18868819	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	17384251	18868819	140269844	18	5028										
EGFR	1956	genome.wustl.edu	37	chr7	55272966	55272966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cagaatacataaaccagtccGttcccaaaaggcccgctggc	8	14	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:55272966G>A	ENST00000275493.2	+	28	3466	c.3289G>A	c.(3289-3291)Gtt>Att	p.V1097I	EGFR_ENST00000454757.2_Missense_Mutation_p.V1044I|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1097					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAACCAGTCCGTTCCCAAAAG	0.527		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													60	57	58					7																	55272966		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3289G>A	7.37:g.55272966G>A	ENSP00000275493:p.Val1097Ile		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V1097I	ENST00000275493.2	37	c.3289	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315155	0.23908	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.75704	-0.96;-0.96	5.2	-5.61	0.02489	.	1.212360	0.05697	N	0.593340	T	0.58380	0.2118	L	0.31752	0.955	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40924	-0.9537	10	0.26408	T	0.33	.	9.0572	0.36412	0.5448:0.0:0.359:0.0962	.	1097	P00533	EGFR_HUMAN	I	967;1097;1044	ENSP00000275493:V1097I;ENSP00000395243:V1044I	ENSP00000275493:V1097I	V	+	1	0	EGFR	55240460	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	-0.141000	0.10327	-1.664000	0.01479	-0.261000	0.10672	GTT	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.527	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	G	NM_005228		55272966	1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55272966	G	A	55272966	3	1	36	1	0	0	0	0	1	0	0	0	4977	1145	40	2	3663	2	EGFR	7	55272966	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	36404147	55272966	103865697	19	5029										
GALNT11	63917	genome.wustl.edu	37	chr7	151814303	151814303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ctatggcaatatcagtgagcGtgtggaactgagaaagaagt	13	5	1	3	rs375106713		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:151814303G>A	ENST00000434507.1	+	11	1732	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	GALNT11_ENST00000320311.2_Missense_Mutation_p.R432H|GALNT11_ENST00000430044.2_Missense_Mutation_p.R432H|GALNT11_ENST00000452146.2_Missense_Mutation_p.R351H|RP5-981O7.2_ENST00000424630.1_RNA			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	432					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATCAGTGAGCGTGTGGAACTG	0.373																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	151	153	152		1295	5.7	1	7		152	0,8600		0,0,4300	no	missense	GALNT11	NM_022087.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	432/609	151814303	1,13005	2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1295G>A	7.37:g.151814303G>A	ENSP00000416787:p.Arg432His		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R432H	ENST00000434507.1	37	c.1295	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971915	0.74246	2.27E-4	0.0	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.91090	3.175	0.80722	D	1	P;P;P	0.42908	0.793;0.678;0.682	B;B;B	0.39339	0.236;0.186;0.297	T	0.77930	-0.2403	10	0.87932	D	0	.	18.0453	0.89330	0.0:0.0:1.0:0.0	.	351;432;432	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	H	432;351;432;432;432	ENSP00000395122:R432H;ENSP00000393399:R351H;ENSP00000416787:R432H;ENSP00000315835:R432H	ENSP00000315835:R432H	R	+	2	0	GALNT11	151445236	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	9.577000	0.98196	2.684000	0.91462	0.561000	0.74099	CGT	GALNT11	-	NULL		0.373	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	G	NM_022087		151814303	1	no_errors	ENST00000320311	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151814303	G	A	151814303	3	1	36	1	0	0	0	0	1	0	0	0	6228	1145	40	2	1325	2	GALNT11	7	151814303	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	96541337	151814303	7324360	20	5030										
PRUNE2	158471	genome.wustl.edu	37	chr9	79324401	79324401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	aaggaactaggacatctgacCctcctttcttcatattctcc	5	13	4	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr9:79324401C>T	ENST00000376718.3	-	8	2912	c.2789G>A	c.(2788-2790)gGg>gAg	p.G930E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.G571E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	930					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACATCTGACCCTCCTTTCTT	0.413																																																	0													243	226	231					9																	79324401		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2789G>A	9.37:g.79324401C>T	ENSP00000365908:p.Gly930Glu		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G571E	ENST00000376718.3	37	c.1712	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016116	0.19355	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.46819	0.86;0.87	5.16	3.14	0.36123	.	0.406531	0.20989	N	0.082072	T	0.32971	0.0847	L	0.29908	0.895	0.36363	D	0.860801	P	0.50272	0.933	B	0.41440	0.357	T	0.40553	-0.9557	10	0.51188	T	0.08	-5.5554	7.8509	0.29453	0.3248:0.5457:0.1295:0.0	.	930	Q8WUY3	PRUN2_HUMAN	E	930;571;929	ENSP00000365908:G930E;ENSP00000397425:G571E	ENSP00000365908:G930E	G	-	2	0	PRUNE2	78514221	0.350000	0.24878	0.258000	0.24420	0.277000	0.26821	1.551000	0.36233	1.480000	0.48289	-0.305000	0.09177	GGG	PRUNE2	-	NULL		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79324401	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	0.483	T	T	79324401	C	T	79324401	3	4	36	1	0	0	0	0	1	0	0	0	12668	623	22	4	6525	4	PRUNE2	9	79324401	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		79324401	61889030	21	5031										
ABCA2	20	genome.wustl.edu	37	chr9	139912772	139912772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tagtgcacgtgaggcgggagCgagccgtccttccgggtctg	17	11	1	1	rs374748346		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr9:139912772C>T	ENST00000371605.3	-	13	1995	c.1848G>A	c.(1846-1848)tcG>tcA	p.S616S	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.S617S|ABCA2_ENST00000265662.5_Silent_p.S617S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	616					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGGCGGGAGCGAGCCGTCCT	0.662																																																	0									,	0,3922		0,0,1961	72	76	74		1851,1941	-7.9	0	9		74	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6087	TT,TC,CC		0.0121,0.0,0.0082	,	617/2437,647/2467	139912772	1,12175	1961	4127	6088	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1848G>A	9.37:g.139912772C>T			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S617	ENST00000371605.3	37	c.1851		9																																																																																			ABCA2	-	NULL		0.662	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139912772	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	silent	SNP	0.730	T	T	139912772	C	T	139912772	2	4	36	1	0	0	0	0	0	0	0	1	32	755	27	2		2	ABCA2	9	139912772	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	60588371	139912772	1300659	22	5032										
C10orf71	118461	genome.wustl.edu	37	chr10	50534359	50534359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tctcggagcctgtcgggaggCggcccgggggcccccagtcc	17	16	1	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr10:50534359C>T	ENST00000374144.3	+	3	4057	c.3769C>T	c.(3769-3771)Cgg>Tgg	p.R1257W	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1257										endometrium(1)	1						TGTCGGGAGGCGGCCCGGGGG	0.697																																																	0													2	5	4					10																	50534359		526	1363	1889	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3769C>T	10.37:g.50534359C>T	ENSP00000363259:p.Arg1257Trp		A0AVL8	Missense_Mutation	SNP	NULL	p.R1257W	ENST00000374144.3	37	c.3769	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	c	12.72	2.023018	0.35701	.	.	ENSG00000177354	ENST00000374144	T	0.05319	3.46	5.81	-1.93	0.07594	.	0.773231	0.10438	N	0.674635	T	0.07818	0.0196	L	0.53249	1.67	0.09310	N	1	.	.	.	.	.	.	T	0.35226	-0.9797	8	0.51188	T	0.08	.	2.8099	0.05439	0.4324:0.3218:0.0892:0.1565	.	.	.	.	W	1257	ENSP00000363259:R1257W	ENSP00000363259:R1257W	R	+	1	2	C10orf71	50204365	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.111000	0.10807	-0.167000	0.10871	0.479000	0.44913	CGG	C10orf71	-	NULL		0.697	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	C	NM_199459		50534359	1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.000	T	T	50534359	C	T	50534359	3	4	36	1	0	0	0	0	1	0	0	0	1618	759	27	2	3771	2	C10orf71	10	50534359	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		50534359	85000388	23	5033										
TIMM23	100287932	genome.wustl.edu	37	chr10	51623133	51623133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gacgccagccaaatccgcgtGcgagtaacctgctccgccgg	12	16	0	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr10:51623133G>A	ENST00000260867.4	-	1	205	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	TIMM23_ENST00000374065.3_Missense_Mutation_p.H28Y|TIMM23_ENST00000374064.3_Missense_Mutation_p.H28Y	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	28					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						AAATCCGCGTGCGAGTAACCT	0.572																																																	0													13	12	12					10																	51623133		2194	4265	6459	SO:0001583	missense	100287932			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.82C>T	10.37:g.51623133G>A	ENSP00000260867:p.His28Tyr		Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim23	p.H28Y	ENST00000260867.4	37	c.82	CCDS7238.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.438090|2.438090	0.43326|0.43326	.|.	.|.	ENSG00000138297|ENSG00000138297	ENST00000444743|ENST00000260867;ENST00000374064;ENST00000374065	.|.	.|.	.|.	4.5|4.5	1.25|1.25	0.21368|0.21368	.|.	.|0.159926	.|0.53938	.|D	.|0.000043	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.29908|0.29908	0.895|0.895	0.32916|0.32916	D|D	0.515112|0.515112	.|P;P	.|0.43607	.|0.812;0.666	.|B;B	.|0.39379	.|0.298;0.139	T|T	0.33727|0.33727	-0.9857|-0.9857	5|9	.|0.42905	.|T	.|0.14	-7.9352|-7.9352	7.0199|7.0199	0.24908|0.24908	0.087:0.0:0.6047:0.3082|0.087:0.0:0.6047:0.3082	.|.	.|28;28	.|B1APJ0;O14925	.|.;TIM23_HUMAN	V|Y	24|28	.|.	.|ENSP00000260867:H28Y	A|H	-|-	2|1	0|0	TIMM23|TIMM23	51293139|51293139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	2.766000|2.766000	0.47629|0.47629	0.569000|0.569000	0.29329|0.29329	-0.216000|-0.216000	0.12614|0.12614	GCA|CAC	TIMM23	-	NULL		0.572	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM23	HGNC	protein_coding	OTTHUMT00000048040.1	G	NM_006327.2		51623133	-1	no_errors	ENST00000260867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51623133	G	A	51623133	3	1	36	1	0	0	0	0	1	0	0	0	15941	1319	46	4	575	4	TIMM23	10	51623133	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	1088774	51623133	83911614	24	5034										
MMP26	56547	genome.wustl.edu	37	chr11	5009511	5009511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ccgttccagtgccccctgctGcagaccataaaggatgggac	11	14	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:5009511G>T	ENST00000380390.1	+	2	286	c.70G>T	c.(70-72)Gca>Tca	p.A24S	MMP26_ENST00000300762.1_Missense_Mutation_p.A24S|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	24					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GCCCCCTGCTGCAGACCATAA	0.483																																																	0													240	194	210					11																	5009511		2201	4298	6499	SO:0001583	missense	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.70G>T	11.37:g.5009511G>T	ENSP00000369753:p.Ala24Ser		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.A24S	ENST00000380390.1	37	c.70	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259899	0.10239	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37915	1.17;1.17	3.3	-0.372	0.12520	.	1.898180	0.03041	N	0.153381	T	0.21921	0.0528	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.13656	-1.0501	10	0.17832	T	0.49	0.0011	5.7975	0.18396	0.6058:0.0:0.3942:0.0	.	24	Q9NRE1	MMP26_HUMAN	S	24	ENSP00000369753:A24S;ENSP00000300762:A24S	ENSP00000300762:A24S	A	+	1	0	MMP26	4966087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.106000	0.15354	0.038000	0.15604	-0.294000	0.09567	GCA	MMP26	-	superfamily_Peptidoglycan-bd-like		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	G	NM_021801		5009511	1	no_errors	ENST00000300762	ensembl	human	known	70_37	missense	SNP	0.000	T	T	5009511	G	T	5009511	3	4	36	1	0	0	0	0	1	0	0	0	9686	1319	46	4	72	4	MMP26	11	5009511	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		5009511	129997005	25	5035										
FOLH1	2346	genome.wustl.edu	37	chr11	49221932	49221932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttctttccactgggattgaaTttgctttgcaagctgaaagt	9	7	1	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:49221932T>A	ENST00000256999.2	-	3	546	c.286A>T	c.(286-288)Att>Ttt	p.I96F	FOLH1_ENST00000340334.7_Missense_Mutation_p.I81F|FOLH1_ENST00000356696.3_Missense_Mutation_p.I96F|FOLH1_ENST00000533034.1_Missense_Mutation_p.I81F|FOLH1_ENST00000343844.4_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	96					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGGGATTGAATTTGCTTTGCA	0.373																																																	0													71	71	71					11																	49221932		2199	4296	6495	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.286A>T	11.37:g.49221932T>A	ENSP00000256999:p.Ile96Phe		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.I96F	ENST00000256999.2	37	c.286	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442093	0.83993	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.78	4.78	0.61160	.	0.112412	0.39274	N	0.001404	T	0.72692	0.3492	M	0.91090	3.175	0.80722	D	1	D;D;B;P	0.71674	0.986;0.998;0.268;0.543	D;D;B;B	0.70716	0.94;0.97;0.328;0.351	T	0.79410	-0.1815	10	0.87932	D	0	.	12.303	0.54884	0.0:0.0:0.0:1.0	.	81;81;96;96	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	F	96;96;81;81;96;39	ENSP00000256999:I96F;ENSP00000349129:I96F;ENSP00000344131:I81F;ENSP00000431463:I81F;ENSP00000431577:I39F	ENSP00000256999:I96F	I	-	1	0	FOLH1	49178508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.757000	0.47557	2.019000	0.59389	0.416000	0.27883	ATT	FOLH1	-	NULL		0.373	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	T	NM_004476		49221932	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49221932	T	A	49221932	3	1	36	1	0	0	0	0	1	0	0	0	5997	1493	52	5	2034	5	FOLH1	11	49221932	Missense_Mutation	SNP	T	TCGA-C5-A2M2-01A-21D-A18J-09	44212421	49221932	85784584	26	5036										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64608046	64608046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	aggtactcctcgtcttggaaGgcatagtgcagagtggtcac	13	9	2	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:64608046G>A	ENST00000342711.5	-	4	410	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGTCTTGGAAGGCATAGTGCA	0.632											OREG0004018	type=REGULATORY REGION|Gene=LOC518121|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													115	90	98					11																	64608046		2201	4297	6498	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.411C>T	11.37:g.64608046G>A		1077		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A137	ENST00000342711.5	37	c.411	CCDS31601.1	11																																																																																			CDC42BPG	-	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		0.632	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64608046	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64608046	G	A	64608046	2	1	36	1	0	0	0	0	0	0	0	1	3079	987	35	4		4	CDC42BPG	11	64608046	Silent	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	15386114	64608046	70398470	27	5037										
BRMS1	25855	genome.wustl.edu	37	chr11	66107661	66107661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agacctggagctgcctctggCgtgcagtttgtcatcccacc	11	14	2	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:66107661C>T	ENST00000359957.3	-	7	719	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.A187T	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	187					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCTCTGGCGTGCAGTTTG	0.572																																					GBM(7;55 307 2662 20856 28942)												0													68	61	64					11																	66107661		2200	4295	6495	SO:0001583	missense	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.559G>A	11.37:g.66107661C>T	ENSP00000353042:p.Ala187Thr		Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.A187T	ENST00000359957.3	37	c.559	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.329953|1.329953	0.24167|0.24167	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756|ENST00000524699	.|.	.|.	.|.	5.02|5.02	0.624|0.624	0.17659|0.17659	.|.	0.843870|.	0.10778|.	N|.	0.635199|.	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.01874|0.01874	-0.695|-0.695	0.24730|0.24730	N|N	0.99309|0.99309	B;B|.	0.17465|.	0.0;0.022|.	B;B|.	0.13407|.	0.001;0.009|.	T|T	0.29027|0.29027	-1.0025|-1.0025	9|5	0.13853|.	T|.	0.58|.	-4.0403|-4.0403	0.396|0.396	0.00418|0.00418	0.2808:0.3025:0.2035:0.2133|0.2808:0.3025:0.2035:0.2133	.|.	187;187|.	Q9HCU9;G5E9I4|.	BRMS1_HUMAN;.|.	T|H	187|149	.|.	ENSP00000353042:A187T|.	A|R	-|-	1|2	0|0	BRMS1|BRMS1	65864237|65864237	0.166000|0.166000	0.22962|0.22962	0.850000|0.850000	0.33497|0.33497	0.717000|0.717000	0.41224|0.41224	0.072000|0.072000	0.14617|0.14617	0.129000|0.129000	0.18514|0.18514	0.462000|0.462000	0.41574|0.41574	GCC|CGC	BRMS1	-	pfam_Sds3		0.572	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	C	NM_015399		66107661	-1	no_errors	ENST00000425825	ensembl	human	known	70_37	missense	SNP	0.771	T	T	66107661	C	T	66107661	3	4	36	1	0	0	0	0	1	0	0	0	1519	768	27	2	341	2	BRMS1	11	66107661	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	1499615	66107661	68898855	28	5038										
NARS2	79731	genome.wustl.edu	37	chr11	78277287	78277287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	attgtcgcagatactccagaGgatgcctctctttatatttg	8	9	1	2	rs199705006		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:78277287G>T	ENST00000281038.5	-	4	779	c.404C>A	c.(403-405)cCt>cAt	p.P135H	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	135					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATACTCCAGAGGATGCCTCTC	0.388																																																	0													75	74	74					11																	78277287		2200	4291	6491	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.404C>A	11.37:g.78277287G>T	ENSP00000281038:p.Pro135His		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.P135H	ENST00000281038.5	37	c.404	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244329	0.59103	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.77750	-1.12;0.95	5.13	5.13	0.70059	.	0.241190	0.41823	D	0.000802	D	0.82407	0.5030	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.83890	0.0284	10	0.87932	D	0	-13.5401	13.4724	0.61288	0.0:0.1574:0.8426:0.0	.	135	Q96I59	SYNM_HUMAN	H	135	ENSP00000281038:P135H;ENSP00000432240:P135H	ENSP00000281038:P135H	P	-	2	0	NARS2	77954935	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.221000	0.51215	2.547000	0.85894	0.655000	0.94253	CCT	NARS2	-	tigrfam_Asn-tRNA-ligase_IIb		0.388	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	G	NM_024678		78277287	-1	no_errors	ENST00000281038	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78277287	G	T	78277287	3	4	36	1	0	0	0	0	1	0	0	0	10194	1000	35	4	1073	4	NARS2	11	78277287	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	12169626	78277287	56729229	29	5039										
ODZ4	26011	genome.wustl.edu	37	chr11	78574141	78574141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	catacatctgcccctccatcGgctgcaggtgccagtttagg	10	14	1	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:78574141G>A	ENST00000278550.7	-	10	1583	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	374					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCCCTCCATCGGCTGCAGGTG	0.567																																																	0													52	54	54					11																	78574141		692	1591	2283	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1121C>T	11.37:g.78574141G>A	ENSP00000278550:p.Pro374Leu		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P374L	ENST00000278550.7	37	c.1121	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996230	0.93167	.	.	ENSG00000149256	ENST00000278550	D	0.89939	-2.59	5.54	5.54	0.83059	.	0.126578	0.53938	D	0.000056	D	0.93471	0.7917	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92101	0.5688	9	.	.	.	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	374	Q6N022	TEN4_HUMAN	L	374	ENSP00000278550:P374L	.	P	-	2	0	ODZ4	78251789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.017000	0.93651	2.884000	0.98904	0.655000	0.94253	CCG	TENM4	-	NULL		0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	G			78574141	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78574141	G	A	78574141	3	1	36	1	0	0	0	0	1	0	0	0	10861	1116	39	2	7288	2	ODZ4	11	78574141	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	296854	78574141	56432375	30	5040										
ATM	472	genome.wustl.edu	37	chr11	108121537	108121537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttctaccccaacagcgacatGgggaacgtacaccatatgtg	9	12	1	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:108121537G>T	ENST00000452508.2	+	11	1534	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	ATM_ENST00000278616.4_Missense_Mutation_p.G449W			Q13315	ATM_HUMAN	ATM serine/threonine kinase	449					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACAGCGACATGGGGAACGTAC	0.408			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													114	97	102					11																	108121537		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1345G>T	11.37:g.108121537G>T	ENSP00000388058:p.Gly449Trp		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G449W	ENST00000452508.2	37	c.1345	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057533	0.76074	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02236	4.38;4.72;4.72	6.08	5.16	0.70880	Armadillo-type fold (1);	0.108662	0.64402	D	0.000007	T	0.11965	0.0291	M	0.66939	2.045	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.00571	-1.1665	10	0.72032	D	0.01	.	16.6982	0.85341	0.0:0.0:0.8695:0.1305	.	449	Q13315	ATM_HUMAN	W	449	ENSP00000435747:G449W;ENSP00000278616:G449W;ENSP00000388058:G449W	ENSP00000278616:G449W	G	+	1	0	ATM	107626747	1.000000	0.71417	0.476000	0.27291	0.795000	0.44927	9.313000	0.96297	1.542000	0.49330	0.591000	0.81541	GGG	ATM	-	superfamily_ARM-type_fold		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108121537	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108121537	G	T	108121537	3	4	36	1	0	0	0	0	1	0	0	0	1110	1348	47	4	1379	4	ATM	11	108121537	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	29547396	108121537	26884979	31	5041										
OR8D1	283159	genome.wustl.edu	37	chr11	124179884	124179884	+	Frame_Shift_Del	DEL	A	A	-													0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agttacttgaagggggcttgAaatacatgaaggtaatggac							TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:124179884delA	ENST00000357821.2	-	1	849	c.779delT	c.(778-780)ttcfs	p.F260fs		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGGGGCTTGAAATACATGAA	0.507																																																	0													95	91	92					11																	124179884		2201	4299	6500	SO:0001589	frameshift_variant	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.779delT	11.37:g.124179884delA	ENSP00000350474:p.Phe260fs		B2RNL4|Q6IEW1|Q8NGH0	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F260fs	ENST00000357821.2	37	c.779	CCDS31706.1	11																																																																																			OR8D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	A	NM_001002917		124179884	-1	no_errors	ENST00000357821	ensembl	human	known	70_37	frame_shift_del	DEL	0.008	-	-	124179884	A	-	124179884	7	5	36	1	0	1	0	1	0	0	0	0	11255	246	9	0	150	0	OR8D1	11	124179884	Frame_Shift_Del	DEL	A	TCGA-C5-A2M2-01A-21D-A18J-09	16058347	124179884	10826632	32	5042										
KCNA1	3736	genome.wustl.edu	37	chr12	5020582	5020582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ggagaacgtggacgaggcttCggccgccccgggccaccccc	15	17	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:5020582C>T	ENST00000382545.3	+	2	1145	c.38C>T	c.(37-39)tCg>tTg	p.S13L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	13					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GACGAGGCTTCGGCCGCCCCG	0.711																																																	0													17	20	19					12																	5020582		2187	4281	6468	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.38C>T	12.37:g.5020582C>T	ENSP00000371985:p.Ser13Leu		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.S13L	ENST00000382545.3	37	c.38	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182992	0.38511	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96136	-3.92	3.73	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	L	0.40543	1.245	0.58432	D	0.999997	B	0.12013	0.005	B	0.04013	0.001	D	0.88803	0.3286	10	0.26408	T	0.33	.	15.0445	0.71816	0.0:1.0:0.0:0.0	.	13	Q09470	KCNA1_HUMAN	L	13	ENSP00000371985:S13L	ENSP00000228858:S13L	S	+	2	0	KCNA1	4890843	0.737000	0.28175	0.953000	0.39169	0.994000	0.84299	5.743000	0.68655	2.093000	0.63338	0.555000	0.69702	TCG	KCNA1	-	NULL		0.711	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020582	1	no_errors	ENST00000382545	ensembl	human	known	70_37	missense	SNP	0.953	T	T	5020582	C	T	5020582	3	4	36	1	0	0	0	0	1	0	0	0	8021	893	31	1	40	1	KCNA1	12	5020582	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		5020582	128831313	33	5043										
ABCC9	10060	genome.wustl.edu	37	chr12	22063160	22063160	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agttgattagtttcaatggcGactaagttgttgatctgccc	10	7	2	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:22063160G>A	ENST00000261201.4	-	8	1250	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	ABCC9_ENST00000261200.4_Silent_p.V417V|ABCC9_ENST00000345162.2_Silent_p.V417V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	417	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTCAATGGCGACTAAGTTGT	0.378																																																	0													118	119	118					12																	22063160		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1251C>T	12.37:g.22063160G>A			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V417	ENST00000261201.4	37	c.1251	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	G	NM_005691		22063160	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	silent	SNP	0.936	A	A	22063160	G	A	22063160	2	1	36	1	0	0	0	0	0	0	0	1	59	1045	37	1		1	ABCC9	12	22063160	Silent	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	17042578	22063160	111788735	34	5044										
ANKRD33	341405	genome.wustl.edu	37	chr12	52284476	52284476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gattcggcagctgctgaggcGgccccaagtggagcagctta	15	11	0	1	rs147364846		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:52284476G>A	ENST00000340970.4	+	5	742	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	ANKRD33_ENST00000301190.6_Missense_Mutation_p.R249Q|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.R55Q			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	124					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTGCTGAGGCGGCCCCAAGTG	0.672													G|||	1	0.000199681	0	0	5008	,	,		13017	0		0.001	False		,,,				2504	0																0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	26	28	27		371,746	3.8	1	12	dbSNP_134	27	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	124/273,249/453	52284476	2,13004	2203	4300	6503	SO:0001583	missense	341405				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.371G>A	12.37:g.52284476G>A	ENSP00000344690:p.Arg124Gln		Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R124Q	ENST00000340970.4	37	c.371	CCDS44892.1	12	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472762	0.43942	0.0	2.33E-4	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.32023	1.88;1.47;2.23	4.7	3.81	0.43845	Ankyrin repeat-containing domain (1);	0.067859	0.64402	D	0.000018	T	0.43678	0.1258	M	0.62723	1.935	0.26993	N	0.965106	D;D;P	0.71674	0.992;0.998;0.887	P;P;B	0.59115	0.493;0.852;0.259	T	0.18116	-1.0347	10	0.39692	T	0.17	-9.3031	10.5155	0.44887	0.0964:0.0:0.9036:0.0	.	124;55;249	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	Q	249;55;124	ENSP00000301190:R249Q;ENSP00000443722:R55Q;ENSP00000344690:R124Q	ENSP00000301190:R249Q	R	+	2	0	ANKRD33	50570743	0.967000	0.33354	0.992000	0.48379	0.016000	0.09150	1.991000	0.40727	2.601000	0.87937	0.561000	0.74099	CGG	ANKRD33	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.672	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	HGNC	protein_coding	OTTHUMT00000404515.1	G	NM_182608		52284476	1	no_errors	ENST00000340970	ensembl	human	known	70_37	missense	SNP	0.872	A	A	52284476	G	A	52284476	3	1	36	1	0	0	0	0	1	0	0	0	661	1116	39	2	794	2	ANKRD33	12	52284476	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	30221316	52284476	81567419	35	5045										
ERBB3	2065	genome.wustl.edu	37	chr12	56493441	56493441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cttatctccaggttggatgaTtgatgagaacattcgcccaa	9	9	1	3	rs540444132		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:56493441T>C	ENST00000267101.3	+	24	3289	c.2849T>C	c.(2848-2850)aTt>aCt	p.I950T	ERBB3_ENST00000549832.1_Missense_Mutation_p.I70T|ERBB3_ENST00000553131.1_Missense_Mutation_p.I191T|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.I891T|ERBB3_ENST00000450146.2_Missense_Mutation_p.I307T	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	950	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGTTGGATGATTGATGAGAAC	0.493													T|||	1	0.000199681	0	0	5008	,	,		18207	0		0	False		,,,				2504	0.001																0													91	86	88					12																	56493441		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2849T>C	12.37:g.56493441T>C	ENSP00000267101:p.Ile950Thr		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I950T	ENST00000267101.3	37	c.2849	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691772	0.88735	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	6.11	6.11	0.99139	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.68146	0.2969	N	0.17838	0.53	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.87578	0.976;0.998;0.988	T	0.72903	-0.4151	10	0.87932	D	0	.	15.6822	0.77381	0.0:0.0:0.0:1.0	.	891;70;950	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	T	950;307;891;73;191;70	ENSP00000267101:I950T;ENSP00000399178:I307T;ENSP00000408340:I891T;ENSP00000449129:I191T;ENSP00000448729:I70T	ENSP00000267101:I950T	I	+	2	0	ERBB3	54779708	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.748000	0.85085	2.343000	0.79666	0.496000	0.49642	ATT	ERBB3	-	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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	T			56493441	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56493441	T	C	56493441	3	2	36	1	0	0	0	0	1	0	0	0	5220	1493	52	5	3074	5	ERBB3	12	56493441	Missense_Mutation	SNP	T	TCGA-C5-A2M2-01A-21D-A18J-09	4208965	56493441	77358454	36	5046										
HSD17B6	8630	genome.wustl.edu	37	chr12	57167790	57167790	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tggccagacagctggatgcaCgaggcttgagagtgctggct	16	9	0	2	rs377658371		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:57167790C>T	ENST00000554643.1	+	3	503	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HSD17B6_ENST00000555805.1_Nonsense_Mutation_p.R52*|HSD17B6_ENST00000555159.1_Nonsense_Mutation_p.R52*|HSD17B6_ENST00000322165.1_Nonsense_Mutation_p.R52*|HSD17B6_ENST00000554150.1_Nonsense_Mutation_p.R52*			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	52					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GCTGGATGCACGAGGCTTGAG	0.617																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	55	55	55		154	2.1	1	12		55	0,8600		0,0,4300	no	stop-gained	HSD17B6	NM_003725.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		52/318	57167790	1,13005	2203	4300	6503	SO:0001587	stop_gained	8630			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.154C>T	12.37:g.57167790C>T	ENSP00000451406:p.Arg52*		O43275	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R52*	ENST00000554643.1	37	c.154	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231020	0.58777	2.27E-4	0.0	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	.	.	.	5.08	2.09	0.27110	.	0.133227	0.32401	N	0.006141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0433	0.30534	0.2981:0.6249:0.0:0.077	.	.	.	.	X	52	.	ENSP00000318631:R52X	R	+	1	2	HSD17B6	55454057	0.006000	0.16342	0.963000	0.40424	0.163000	0.22366	1.248000	0.32827	0.335000	0.23614	0.655000	0.94253	CGA	HSD17B6	-	pfam_DH_sc/Rdtase_SDR		0.617	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	HGNC	protein_coding	OTTHUMT00000410714.1	C	NM_003725		57167790	1	no_errors	ENST00000322165	ensembl	human	known	70_37	nonsense	SNP	0.198	T	T	57167790	C	T	57167790	4	4	36	1	0	0	0	0	0	1	0	0	7407	528	19	2	156	2	HSD17B6	12	57167790	Nonsense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	674349	57167790	76684105	37	5047										
CYP27B1	1594	genome.wustl.edu	37	chr12	58157567	58157567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ggcagggtcccttgaagtggCatagtgacacagagtgacca	14	9	0	4			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:58157567C>T	ENST00000228606.4	-	8	1449	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	414					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CTTGAAGTGGCATAGTGACAC	0.542																																																	0													56	60	58					12																	58157567		2203	4300	6503	SO:0001583	missense	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1240G>A	12.37:g.58157567C>T	ENSP00000228606:p.Ala414Thr		B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A414T	ENST00000228606.4	37	c.1240	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369613	0.61624	.	.	ENSG00000111012	ENST00000228606	T	0.71817	-0.6	4.7	3.76	0.43208	.	0.055430	0.64402	D	0.000001	T	0.66228	0.2768	L	0.52573	1.65	0.80722	D	1	B	0.23540	0.087	B	0.30572	0.117	T	0.66736	-0.5848	10	0.46703	T	0.11	.	13.2133	0.59839	0.1596:0.8404:0.0:0.0	.	414	O15528	CP27B_HUMAN	T	414	ENSP00000228606:A414T	ENSP00000228606:A414T	A	-	1	0	CYP27B1	56443834	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.666000	0.54540	2.448000	0.82819	0.462000	0.41574	GCC	CYP27B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.542	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1	C	NM_000785		58157567	-1	no_errors	ENST00000228606	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58157567	C	T	58157567	3	4	36	1	0	0	0	0	1	0	0	0	4164	710	25	4	294	4	CYP27B1	12	58157567	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	989777	58157567	75694328	38	5048										
DNAH10	196385	genome.wustl.edu	37	chr12	124358220	124358220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cggcccacccatgggaaaacGcctgctggtgttcatggatg	13	12	1	0	rs552303091	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:124358220G>A	ENST00000409039.3	+	45	7572	c.7547G>A	c.(7546-7548)cGc>cAc	p.R2516H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2516	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGGGAAAACGCCTGCTGGTG	0.488													G|||	12	0.00239617	0	0	5008	,	,		21208	0		0	False		,,,				2504	0.0123																0													49	47	48					12																	124358220		1946	4147	6093	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7547G>A	12.37:g.124358220G>A	ENSP00000386770:p.Arg2516His		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.R2516H	ENST00000409039.3	37	c.7547	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748704	0.89753	.	.	ENSG00000197653	ENST00000409039	T	0.37058	1.22	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000001	T	0.63616	0.2526	M	0.78456	2.415	0.58432	D	0.999994	D	0.89917	1.0	D	0.74023	0.982	T	0.66456	-0.5919	10	0.66056	D	0.02	.	19.4169	0.94704	0.0:0.0:1.0:0.0	.	2516	Q8IVF4	DYH10_HUMAN	H	2516	ENSP00000386770:R2516H	ENSP00000386770:R2516H	R	+	2	0	DNAH10	122924173	1.000000	0.71417	0.977000	0.42913	0.833000	0.47200	7.952000	0.87827	2.599000	0.87857	0.561000	0.74099	CGC	DNAH10	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124358220	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124358220	G	A	124358220	3	1	36	1	0	0	0	0	1	0	0	0	4608	1087	38	2	7725	2	DNAH10	12	124358220	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	66200653	124358220	9493675	39	5049										
MYO16	23026	genome.wustl.edu	37	chr13	109779887	109779887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cctctccgcggccagggaagCggccaacgaaggtcagccct	13	16	2	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr13:109779887C>T	ENST00000357550.2	+	30	4015	c.3974C>T	c.(3973-3975)gCg>gTg	p.A1325V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1325V|MYO16_ENST00000457511.2_Missense_Mutation_p.A837V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCAGGGAAGCGGCCAACGAA	0.682																																																	0													17	20	19					13																	109779887		2199	4295	6494	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3974C>T	13.37:g.109779887C>T	ENSP00000350160:p.Ala1325Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1325V	ENST00000357550.2	37	c.3974	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159366	0.21454	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.46063	0.88;0.88;0.88	5.29	5.29	0.74685	.	0.438288	0.16456	U	0.213610	T	0.32823	0.0842	L	0.40543	1.245	0.09310	N	1	B;B	0.31680	0.335;0.226	B;B	0.28465	0.09;0.017	T	0.16129	-1.0413	9	.	.	.	.	11.4182	0.49965	0.0:0.9183:0.0:0.0817	.	837;1325	F8W883;Q9Y6X6	.;MYO16_HUMAN	V	1325;1325;837	ENSP00000349145:A1325V;ENSP00000350160:A1325V;ENSP00000401633:A837V	.	A	+	2	0	MYO16	108577888	0.039000	0.19947	0.005000	0.12908	0.046000	0.14306	3.221000	0.51215	2.473000	0.83533	0.563000	0.77884	GCG	MYO16	-	NULL		0.682	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109779887	1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	0.007	T	T	109779887	C	T	109779887	3	4	36	1	0	0	0	0	1	0	0	0	10087	768	27	2	4092	2	MYO16	13	109779887	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		109779887	5389991	40	5050										
CDH24	64403	genome.wustl.edu	37	chr14	23517581	23517581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ctcggtgtcctcctcgccgcCgccctcgtcgtcgtaggtga	12	17	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:23517581C>T	ENST00000267383.5	-	12	2160	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CDH24_ENST00000397359.3_Missense_Mutation_p.G690S|CDH24_ENST00000554034.1_Missense_Mutation_p.G652S|CDH24_ENST00000487137.2_Missense_Mutation_p.G652S|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	690					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCCTCGCCGCCGCCCTCGTCG	0.692																																																	0													75	81	79					14																	23517581		2203	4299	6502	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2068G>A	14.37:g.23517581C>T	ENSP00000267383:p.Gly690Ser		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G690S	ENST00000267383.5	37	c.2068	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953035	0.92660	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.05	4.05	0.47172	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	H	0.95365	3.66	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95404	0.8492	10	0.87932	D	0	.	15.1654	0.72821	0.0:1.0:0.0:0.0	.	652;690	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	S	690;652;185;652;690	ENSP00000380517:G690S;ENSP00000434821:G652S;ENSP00000452493:G652S;ENSP00000267383:G690S	ENSP00000267383:G690S	G	-	1	0	CDH24	22587421	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.431000	0.80335	2.096000	0.63516	0.655000	0.94253	GGC	CDH24	-	pfam_Cadherin_cytoplasmic-dom		0.692	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	C	NM_022478		23517581	-1	no_errors	ENST00000267383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23517581	C	T	23517581	3	4	36	1	0	0	0	0	1	0	0	0	3114	652	23	2	395	2	CDH24	14	23517581	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		23517581	83831959	41	5051										
FANCM	57697	genome.wustl.edu	37	chr14	45623980	45623980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	atctagagtgtatgtttgcaCgtacacgtagtacttcagca	9	8	2	1	rs150574630		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:45623980C>T	ENST00000267430.5	+	7	1349	c.1264C>T	c.(1264-1266)Cgt>Tgt	p.R422C	FANCM_ENST00000556036.1_Missense_Mutation_p.R422C|FANCM_ENST00000542564.2_Missense_Mutation_p.R396C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	422					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATGTTTGCACGTACACGTAG	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0								C	CYS/ARG	0,4406		0,0,2203	83	84	83		1264	1.4	0	14	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCM	NM_020937.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	422/2049	45623980	1,13005	2203	4300	6503	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1264C>T	14.37:g.45623980C>T	ENSP00000267430:p.Arg422Cys		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R422C	ENST00000267430.5	37	c.1264	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846641	0.51164	0.0	1.16E-4	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.43688	0.94;0.94;0.94;2.19	4.43	1.39	0.22231	.	0.603220	0.17759	N	0.162977	T	0.16085	0.0387	N	0.14661	0.345	0.23483	N	0.997583	P;B;P	0.47841	0.738;0.437;0.901	B;B;B	0.31016	0.064;0.03;0.123	T	0.19386	-1.0307	10	0.56958	D	0.05	.	3.3339	0.07094	0.1243:0.3511:0.4131:0.1114	.	396;422;422	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	C	422;422;396;7	ENSP00000450596:R422C;ENSP00000267430:R422C;ENSP00000442493:R396C;ENSP00000452033:R7C	ENSP00000267430:R422C	R	+	1	0	FANCM	44693730	0.198000	0.23374	0.039000	0.18376	0.324000	0.28378	1.628000	0.37060	0.318000	0.23185	0.460000	0.39030	CGT	FANCM	-	NULL		0.343	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	C	XM_048128		45623980	1	no_errors	ENST00000267430	ensembl	human	known	70_37	missense	SNP	0.674	T	T	45623980	C	T	45623980	3	4	36	1	0	0	0	0	1	0	0	0	5689	536	19	2	1290	2	FANCM	14	45623980	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	22106399	45623980	61725560	42	5052										
TRIM9	114088	genome.wustl.edu	37	chr14	51561129	51561129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttcgcacatgacggtggcttCcttgggcgccttctcgcaga	12	13	1	2	rs34137743		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:51561129C>T	ENST00000298355.3	-	1	1650	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TRIM9_ENST00000360392.4_Missense_Mutation_p.E177K|TRIM9_ENST00000338969.5_Missense_Mutation_p.E177K	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	177					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACGGTGGCTTCCTTGGGCGCC	0.652																																																	0													29	28	29					14																	51561129		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.529G>A	14.37:g.51561129C>T	ENSP00000298355:p.Glu177Lys		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E177K	ENST00000298355.3	37	c.529	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284635	0.59867	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71698	-0.48;-0.59;0.45	4.96	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (2);	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	L	0.38692	1.165	0.52501	D	0.999956	D;P;B	0.54772	0.968;0.941;0.007	P;P;B	0.54889	0.763;0.7;0.01	T	0.74127	-0.3765	10	0.48119	T	0.1	.	15.6895	0.77439	0.0:1.0:0.0:0.0	.	177;177;177	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	K	177	ENSP00000298355:E177K;ENSP00000342970:E177K;ENSP00000353561:E177K	ENSP00000298355:E177K	E	-	1	0	TRIM9	50630879	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.174000	0.50847	2.291000	0.77112	0.561000	0.74099	GAA	TRIM9	-	superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box		0.652	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51561129	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51561129	C	T	51561129	3	4	36	1	0	0	0	0	1	0	0	0	16580	864	30	1	1693	1	TRIM9	14	51561129	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	5937149	51561129	55788411	43	5053										
C14orf179	112752	genome.wustl.edu	37	chr14	76549851	76549851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttcactgaggtgtcctcagaGgtcctcactgagtgggaccc	12	12	3	3			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:76549851G>T	ENST00000314067.6	+	9	592	c.558G>T	c.(556-558)gaG>gaT	p.E186D	IFT43_ENST00000238628.6_Missense_Mutation_p.E191D	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	186					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCCTCAGAGGTCCTCACTG	0.577																																																	0													80	74	76					14																	76549851		2203	4300	6503	SO:0001583	missense	112752			BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"Intraflagellar transport homologs"	29669	protein-coding gene	gene with protein product		614068	"chromosome 14 open reading frame 179", "intraflagellar transport 43 homolog (Chlamydomonas)"	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.558G>T	14.37:g.76549851G>T	ENSP00000324177:p.Glu186Asp		B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	NULL	p.E191D	ENST00000314067.6	37	c.573	CCDS41973.1	14	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956018	0.53293	.	.	ENSG00000119650	ENST00000314067;ENST00000238628	T;T	0.54866	0.55;0.55	5.63	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.81239	2.535	0.47441	D	0.999422	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.68542	-0.5381	10	0.49607	T	0.09	-20.6333	8.3737	0.32430	0.3073:0.0:0.6927:0.0	.	186;191	Q96FT9;Q96FT9-2	IFT43_HUMAN;.	D	186;191	ENSP00000324177:E186D;ENSP00000238628:E191D	ENSP00000238628:E191D	E	+	3	2	IFT43	75619604	1.000000	0.71417	0.983000	0.44433	0.117000	0.20001	3.808000	0.55598	0.697000	0.31718	-0.136000	0.14681	GAG	IFT43	-	NULL		0.577	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT43	HGNC	protein_coding		G	NM_052873		76549851	1	no_errors	ENST00000238628	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76549851	G	T	76549851	3	4	36	1	0	0	0	0	1	0	0	0	1766	991	35	4	691	4	C14orf179	14	76549851	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	24988722	76549851	30799689	44	5054										
ATG2B	55102	genome.wustl.edu	37	chr14	96813614	96813614	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	atggaactgacagggaaattGactgaatgaatccttcagtg	11	6	1	4			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:96813614G>T	ENST00000359933.4	-	2	1120	c.227C>A	c.(226-228)tCa>tAa	p.S76*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	76					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGGGAAATTGACTGAATGAA	0.453																																																	0													98	96	97					14																	96813614		1973	4178	6151	SO:0001587	stop_gained	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.227C>A	14.37:g.96813614G>T	ENSP00000353010:p.Ser76*		Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S76*	ENST00000359933.4	37	c.227	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	46	12.313792	0.99656	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.39	5.39	0.77823	.	0.185685	0.35525	U	0.003155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1422	0.93450	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000353010:S76X	S	-	2	0	ATG2B	95883367	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	9.869000	0.99810	2.530000	0.85305	0.561000	0.74099	TCA	ATG2B	-	NULL		0.453	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	G	NM_018036		96813614	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	96813614	G	T	96813614	4	4	36	1	0	0	0	0	0	1	0	0	1095	1294	45	3	6173	3	ATG2B	14	96813614	Nonsense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	20263763	96813614	10535926	45	5055										
CDC42BPB	9578	genome.wustl.edu	37	chr14	103406615	103406615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	atggtgcgcacatcaaagacGtccacgccatactcgctgta	9	13	1	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:103406615G>T	ENST00000361246.2	-	31	4743	c.4455C>A	c.(4453-4455)gaC>gaA	p.D1485E		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CATCAAAGACGTCCACGCCAT	0.667																																																	0													53	39	44					14																	103406615		2200	4292	6492	SO:0001583	missense	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4455C>A	14.37:g.103406615G>T	ENSP00000355237:p.Asp1485Glu			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.D1485E	ENST00000361246.2	37	c.4455	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550701	0.86127	.	.	ENSG00000198752	ENST00000361246	T	0.02498	4.27	4.62	-4.93	0.03066	Citron-like (3);	0.047040	0.85682	D	0.000000	T	0.11580	0.0282	M	0.81179	2.53	0.58432	D	0.999993	P	0.42973	0.796	P	0.59595	0.86	T	0.00284	-1.1848	10	0.87932	D	0	.	15.892	0.79305	0.8786:0.0:0.1214:0.0	.	1485	Q9Y5S2	MRCKB_HUMAN	E	1485	ENSP00000355237:D1485E	ENSP00000355237:D1485E	D	-	3	2	CDC42BPB	102476368	0.898000	0.30612	0.893000	0.35052	0.967000	0.64934	0.012000	0.13287	-0.913000	0.03832	-0.140000	0.14226	GAC	CDC42BPB	-	pfam_Citron,smart_Citron		0.667	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103406615	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	0.973	T	T	103406615	G	T	103406615	3	4	36	1	0	0	0	0	1	0	0	0	3078	1136	40	2	708	2	CDC42BPB	14	103406615	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	6593001	103406615	3942925	46	5056										
RYR3	6263	genome.wustl.edu	37	chr15	33955938	33955938	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cgctcacccccacaggagcaGgtgagggtccttcctgagcc	12	16	1	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:33955938G>T	ENST00000389232.4	+	36	5689	c.5619G>T	c.(5617-5619)caG>caT	p.Q1873H	RYR3_ENST00000415757.3_Splice_Site_p.Q1873H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1873	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACAGGAGCAGGTGAGGGTCC	0.562																																																	0													21	21	21					15																	33955938		1947	4127	6074	SO:0001630	splice_region_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5619+1G>T	15.37:g.33955938G>T			O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Q1873H	ENST00000389232.4	37	c.5619	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880138	0.91740	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73469	-0.75;-0.75	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	M	0.84773	2.715	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.85130	0.997;0.947	D	0.89518	0.3776	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1873;1873	Q15413-2;Q15413	.;RYR3_HUMAN	H	1873	ENSP00000373884:Q1873H;ENSP00000399610:Q1873H	ENSP00000354735:Q1873H	Q	+	3	2	RYR3	31743230	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.595000	0.98260	2.729000	0.93468	0.561000	0.74099	CAG	RYR3	-	NULL		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G		Missense_Mutation	33955938	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33955938	G	T	33955938	5	4	36	1	0	0	0	0	0	0	1	0	13800	1014	35	4	5761	4	RYR3	15	33955938	Splice_Site	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		33955938	68575454	47	5057										
SNX1	6642	genome.wustl.edu	37	chr15	64426947	64426947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agaagcgggaggccgaggctCggctgctgtgggccaacaag	18	10	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:64426947C>T	ENST00000559844.1	+	12	1320	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	SNX1_ENST00000560829.1_Missense_Mutation_p.R218W|SNX1_ENST00000353874.4_Intron|SNX1_ENST00000561026.1_Missense_Mutation_p.R371W|SNX1_ENST00000261889.5_Missense_Mutation_p.R436W			Q13596	SNX1_HUMAN	sorting nexin 1	436	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGCCGAGGCTCGGCTGCTGTG	0.642																																																	0													31	33	32					15																	64426947		2198	4297	6495	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1306C>T	15.37:g.64426947C>T	ENSP00000453785:p.Arg436Trp		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R436W	ENST00000559844.1	37	c.1306	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640554	0.87859	.	.	ENSG00000028528	ENST00000380285;ENST00000261889	.	.	.	5.92	3.92	0.45320	Vps5 C-terminal (1);	0.044608	0.85682	D	0.000000	T	0.66519	0.2797	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.73708	0.981;0.967;0.967;0.967;0.968;0.967	T	0.68074	-0.5505	9	0.87932	D	0	-5.0513	6.7865	0.23675	0.3262:0.5838:0.0:0.09	.	436;346;436;436;371;436	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;Q13596	.;.;.;.;.;SNX1_HUMAN	W	436;371	.	ENSP00000261889:R371W	R	+	1	2	SNX1	62214000	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.708000	0.54845	1.518000	0.48934	-0.136000	0.14681	CGG	SNX1	-	pfam_Vps5_C		0.642	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	C	NM_003099		64426947	1	no_errors	ENST00000559844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64426947	C	T	64426947	3	4	36	1	0	0	0	0	1	0	0	0	14910	875	31	1	1352	1	SNX1	15	64426947	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	30471009	64426947	38104445	48	5058										
MAP2K1	5604	genome.wustl.edu	37	chr15	66727561	66727561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cccacaagccttctggcctgGtcatggccagaaaggtgagt	12	12	2	2	rs151207265		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:66727561G>T	ENST00000307102.5	+	2	808	c.277G>T	c.(277-279)Gtc>Ttc	p.V93F		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTCTGGCCTGGTCATGGCCAG	0.507																																																	0													110	101	104					15																	66727561		2201	4299	6500	SO:0001583	missense	5604			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.277G>T	15.37:g.66727561G>T	ENSP00000302486:p.Val93Phe			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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V93F	ENST00000307102.5	37	c.277	CCDS10216.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.80|18.80	3.700420|3.700420	0.68501|0.68501	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000425818|ENST00000307102	.|T	.|0.70749	.|-0.51	5.24|5.24	4.21|4.21	0.49690|0.49690	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.162164	.|0.53938	.|D	.|0.000054	T|T	0.51839|0.51839	0.1698|0.1698	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18166	.|0.026;0.004	.|B;B	.|0.28553	.|0.091;0.023	T|T	0.52200|0.52200	-0.8607|-0.8607	5|10	.|0.44086	.|T	.|0.13	-26.5542|-26.5542	3.7663|3.7663	0.08623|0.08623	0.3255:0.0:0.6745:0.0|0.3255:0.0:0.6745:0.0	.|.	.|71;93	.|B4DFY5;Q02750	.|.;MP2K1_HUMAN	V|F	32|93	.|ENSP00000302486:V93F	.|ENSP00000302486:V93F	G|V	+|+	2|1	0|0	MAP2K1|MAP2K1	64514615|64514615	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	7.552000|7.552000	0.82192|0.82192	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GGT|GTC	MAP2K1	-	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		0.507	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	G			66727561	1	no_errors	ENST00000307102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66727561	G	T	66727561	3	4	36	1	0	0	0	0	1	0	0	0	9259	1261	44	4	283	4	MAP2K1	15	66727561	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	2300614	66727561	35803831	49	5059										
KIAA1024	23251	genome.wustl.edu	37	chr15	79760660	79760660	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gtctgcaagatagctgctctGatcgctgctgcggcatgcac	12	12	2	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:79760660G>C	ENST00000305428.3	+	4	2760	c.2685G>C	c.(2683-2685)ctG>ctC	p.L895L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	895						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TAGCTGCTCTGATCGCTGCTG	0.453																																																	0													76	67	70					15																	79760660		2196	4293	6489	SO:0001819	synonymous_variant	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2685G>C	15.37:g.79760660G>C			A7MD43	Silent	SNP	pfam_UPF0258	p.L895	ENST00000305428.3	37	c.2685	CCDS32306.1	15																																																																																			KIAA1024	-	pfam_UPF0258		0.453	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	G	NM_015206		79760660	1	no_errors	ENST00000305428	ensembl	human	known	70_37	silent	SNP	1.000	C	C	79760660	G	C	79760660	2	2	36	1	0	0	0	0	0	0	0	1	8225	1277	45	1		1	KIAA1024	15	79760660	Silent	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	13033099	79760660	22770732	50	5060										
PKD1	5310	genome.wustl.edu	37	chr16	2158331	2158331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	aggttggggtcgtaggactcGctcccatccagcaccaggtc	13	13	0	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr16:2158331G>A	ENST00000262304.4	-	15	7045	c.6837C>T	c.(6835-6837)agC>agT	p.S2279S	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.S2279S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2279	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTAGGACTCGCTCCCATCCA	0.657																																																	0													48	48	48					16																	2158331		2192	4289	6481	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6837C>T	16.37:g.2158331G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S2279	ENST00000262304.4	37	c.6837	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2158331	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.946	A	A	2158331	G	A	2158331	2	1	36	1	0	0	0	0	0	0	0	1	11987	1078	38	2		2	PKD1	16	2158331	Silent	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		2158331	88196422	51	5061										
TMCO7	79613	genome.wustl.edu	37	chr16	69074262	69074262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cagatggtgaagttcaagtaCgcagagctgccatacatgtg	12	8	1	3			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr16:69074262C>T	ENST00000261778.1	+	17	3058	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1016						integral component of membrane (GO:0016021)											AGTTCAAGTACGCAGAGCTGC	0.493																																																	0													91	91	91					16																	69074262		2038	4203	6241	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3046C>T	16.37:g.69074262C>T	ENSP00000261778:p.Arg1016Cys		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.R1016C	ENST00000261778.1	37	c.3046	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605009	0.87157	.	.	ENSG00000103047	ENST00000261778	T	0.72282	-0.64	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.053362	0.64402	D	0.000001	D	0.85155	0.5632	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86718	0.1940	10	0.87932	D	0	-11.1344	15.5802	0.76428	0.0:1.0:0.0:0.0	.	1016	Q9C0B7	TMCO7_HUMAN	C	1016	ENSP00000261778:R1016C	ENSP00000261778:R1016C	R	+	1	0	TMCO7	67631763	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.048000	0.57390	2.749000	0.94314	0.643000	0.83706	CGC	TMCO7	-	superfamily_ARM-type_fold		0.493	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	C	XM_928235.2		69074262	1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69074262	C	T	69074262	3	4	36	1	0	0	0	0	1	0	0	0	16031	536	19	2	3112	2	TMCO7	16	69074262	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	66915931	69074262	21280491	52	5062										
FLCN	201163	genome.wustl.edu	37	chr17	17127274	17127274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gagctcatcgatgattccccGgaccttccccagcaggaagg	11	14	1	1	rs138070947	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr17:17127274G>A	ENST00000285071.4	-	6	1034	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	FLCN_ENST00000389169.5_Missense_Mutation_p.R194W|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	194					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGATTCCCCGGACCTTCCCC	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	58	52	54		580,580	5.7	1	17	dbSNP_134	54	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	FLCN	NM_144606.5,NM_144997.5	101,101	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging,probably-damaging	194/343,194/580	17127274	6,13000	2203	4300	6503	SO:0001583	missense	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.580C>T	17.37:g.17127274G>A	ENSP00000285071:p.Arg194Trp		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.R194W	ENST00000285071.4	37	c.580	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501454	0.85176	0.0	6.98E-4	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064	D;D;D	0.88741	-2.42;-2.42;-2.42	5.74	5.74	0.90152	.	0.096155	0.64402	D	0.000002	D	0.91965	0.7455	L	0.49778	1.585	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.71656	0.971;0.974	D	0.91851	0.5491	10	0.72032	D	0.01	-25.8967	12.8374	0.57782	0.0:0.0:0.7468:0.2532	.	194;194	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	W	194;194;141	ENSP00000285071:R194W;ENSP00000373821:R194W;ENSP00000410410:R141W	ENSP00000285071:R194W	R	-	1	2	FLCN	17067999	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.485000	0.53208	2.873000	0.98535	0.561000	0.74099	CGG	FLCN	-	pfam_Folliculin		0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	G	NM_144606		17127274	-1	no_errors	ENST00000285071	ensembl	human	known	70_37	missense	SNP	0.992	A	A	17127274	G	A	17127274	3	1	36	1	0	0	0	0	1	0	0	0	5939	1115	39	2	1353	2	FLCN	17	17127274	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		17127274	64067936	53	5063										
ITGB4	3691	genome.wustl.edu	37	chr17	73752597	73752597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	caaccactcctacgtgttccGcgtgcgggcccagagccagg	12	16	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr17:73752597G>A	ENST00000200181.3	+	36	4983	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	ITGB4_ENST00000449880.2_Missense_Mutation_p.R1582H|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1529H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1529H|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1582H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1599	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACGTGTTCCGCGTGCGGGCC	0.652																																																	0													101	104	103					17																	73752597		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4796G>A	17.37:g.73752597G>A	ENSP00000200181:p.Arg1599His		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.R1599H	ENST00000200181.3	37	c.4796	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353569	0.41700	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.60920	0.15;0.15;0.15	5.04	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143555	0.46758	N	0.000271	T	0.73218	0.3559	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.72075	0.959;0.968;0.976	T	0.75439	-0.3317	10	0.87932	D	0	.	8.6524	0.34042	0.2253:0.0:0.7747:0.0	.	1582;1529;1599	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1599;1582;1582	ENSP00000200181:R1599H;ENSP00000344079:R1582H;ENSP00000400217:R1582H	ENSP00000200181:R1599H	R	+	2	0	ITGB4	71264192	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	3.138000	0.50570	1.260000	0.44134	0.455000	0.32223	CGC	ITGB4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G			73752597	1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.986	A	A	73752597	G	A	73752597	3	1	36	1	0	0	0	0	1	0	0	0	7917	1087	38	2	5097	2	ITGB4	17	73752597	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	56625323	73752597	7442613	54	5064										
LAMA1	284217	genome.wustl.edu	37	chr18	6977743	6977743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	cacagaagctgcttgtttgcGggcctggctgatcaacagtt	12	10	1	2	rs544116466		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr18:6977743G>A	ENST00000389658.3	-	44	6421	c.6328C>T	c.(6328-6330)Cgc>Tgc	p.R2110C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2110	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTTGTTTGCGGGCCTGGCTG	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		17570	0		0	False		,,,				2504	0																0													52	52	52					18																	6977743		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6328C>T	18.37:g.6977743G>A	ENSP00000374309:p.Arg2110Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2110C	ENST00000389658.3	37	c.6328	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762982	0.69763	.	.	ENSG00000101680	ENST00000389658	T	0.78924	-1.22	5.13	4.22	0.49857	Laminin II (1);	0.000000	0.64402	D	0.000004	D	0.88024	0.6326	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89694	0.3900	10	0.87932	D	0	.	14.8763	0.70496	0.0:0.0:0.8552:0.1448	.	2110	P25391	LAMA1_HUMAN	C	2110	ENSP00000374309:R2110C	ENSP00000374309:R2110C	R	-	1	0	LAMA1	6967743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.803000	0.55560	1.204000	0.43247	0.655000	0.94253	CGC	LAMA1	-	pfam_Laminin_II		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	G	NM_005559		6977743	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6977743	G	A	6977743	3	1	36	1	0	0	0	0	1	0	0	0	8625	1116	39	2	2979	2	LAMA1	18	6977743	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		6977743	71099505	55	5065										
SPIRE1	56907	genome.wustl.edu	37	chr18	12463427	12463427	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttccttttcaatggaatgtcGtctctggggtggctgccgtc	12	10	2	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr18:12463427G>A	ENST00000409402.4	-	12	1828	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	SPIRE1_ENST00000453447.2_Nonsense_Mutation_p.R387*|SPIRE1_ENST00000309836.5_Nonsense_Mutation_p.R310*|SPIRE1_ENST00000410092.3_Nonsense_Mutation_p.R507*|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Nonsense_Mutation_p.R348*	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						ATGGAATGTCGTCTCTGGGGT	0.478																																																	0													121	111	114					18																	12463427		2203	4300	6503	SO:0001587	stop_gained	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1561C>T	18.37:g.12463427G>A	ENSP00000387266:p.Arg521*			Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.R521*	ENST00000409402.4	37	c.1561	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.323985	0.98759	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	.	.	.	5.41	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.561	14.6586	0.68852	0.0:0.0:0.7343:0.2657	.	.	.	.	X	387;521;507;310;348	.	ENSP00000309661:R310X	R	-	1	2	SPIRE1	12453427	1.000000	0.71417	0.943000	0.38184	0.970000	0.65996	1.931000	0.40134	0.723000	0.32274	-0.291000	0.09656	CGA	SPIRE1	-	NULL		0.478	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	G	XM_290818		12463427	-1	no_errors	ENST00000409402	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	12463427	G	A	12463427	4	1	36	1	0	0	0	0	0	1	0	0	15101	1153	40	2	733	2	SPIRE1	18	12463427	Nonsense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	5485684	12463427	65613821	56	5066										
ATCAY	85300	genome.wustl.edu	37	chr19	3907823	3907823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gaggacggcagcgccgccaaCgggcgcctgtggcggacagt	18	13	0	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:3907823C>T	ENST00000450849.2	+	5	917	c.450C>T	c.(448-450)aaC>aaT	p.N150N	ATCAY_ENST00000301260.6_Silent_p.N150N|ATCAY_ENST00000600960.1_Silent_p.N150N|ATCAY_ENST00000398448.3_Silent_p.N156N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	150					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGCCGCCAACGGGCGCCTGT	0.632																																																	0													44	55	52					19																	3907823		2046	4187	6233	SO:0001819	synonymous_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.450C>T	19.37:g.3907823C>T			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.N150	ENST00000450849.2	37	c.450	CCDS45923.1	19																																																																																			ATCAY	-	pfam_Bcl2-/adenovirus-E1B		0.632	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	C			3907823	1	no_errors	ENST00000301260	ensembl	human	known	70_37	silent	SNP	0.998	T	T	3907823	C	T	3907823	2	4	36	1	0	0	0	0	0	0	0	1	1078	535	19	2		2	ATCAY	19	3907823	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		3907823	55221160	57	5067										
SLC7A9	11136	genome.wustl.edu	37	chr19	33355560	33355560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	gtcgcgaggaccccgcaagcCgcccatatgatgaggcaggg	15	13	0	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:33355560C>T	ENST00000023064.4	-	3	401	c.210G>A	c.(208-210)gcG>gcA	p.A70A	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Silent_p.A70A|SLC7A9_ENST00000587772.1_Silent_p.A70A	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	70			A -> V (in CSNU; mild loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCCGCAAGCCGCCCATATGA	0.627																																					GBM(181;1335 2108 9644 44178 46689)												0													89	87	88					19																	33355560		2203	4300	6503	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.210G>A	19.37:g.33355560C>T			B2R9A6	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.A70	ENST00000023064.4	37	c.210	CCDS12425.1	19																																																																																			SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.627	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	C			33355560	-1	no_errors	ENST00000023064	ensembl	human	known	70_37	silent	SNP	0.000	T	T	33355560	C	T	33355560	2	4	36	1	0	0	0	0	0	0	0	1	14735	639	23	2		2	SLC7A9	19	33355560	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	29447737	33355560	25773423	58	5068										
ZNF468	90333	genome.wustl.edu	37	chr19	53344188	53344188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	actctctgatgttgtgccagGtgtgaatccctctggaaagc	11	10	2	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:53344188G>T	ENST00000595646.1	-	4	1479	c.1359C>A	c.(1357-1359)caC>caA	p.H453Q	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.H400Q|ZNF468_ENST00000396409.4_Missense_Mutation_p.H400Q			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GTTGTGCCAGGTGTGAATCCC	0.438																																																	0													127	134	131					19																	53344188		2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1359C>A	19.37:g.53344188G>T	ENSP00000470381:p.His453Gln		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H453Q	ENST00000595646.1	37	c.1359	CCDS33094.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.218|7.218	0.596767|0.596767	0.13875|0.13875	.|.	.|.	ENSG00000204604|ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651|ENST00000393865	T;T|.	0.13196|.	2.61;2.61|.	1.92|1.92	-1.59|-1.59	0.08453|0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.15955|0.15955	0.0384|0.0384	N|N	0.11724|0.11724	0.165|0.165	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.17433|.	0.018|.	T|T	0.20438|0.20438	-1.0275|-1.0275	9|6	0.17369|0.41790	T|T	0.5|0.15	.|.	0.5597|0.5597	0.00677|0.00677	0.4141:0.1807:0.2223:0.1828|0.4141:0.1807:0.2223:0.1828	.|.	453|.	Q5VIY5|.	ZN468_HUMAN|.	Q|N	453;400;400|201	ENSP00000379690:H400Q;ENSP00000445669:H400Q|.	ENSP00000243639:H453Q|ENSP00000377444:T201N	H|T	-|-	3|2	2|0	ZNF468|ZNF468	58036000|58036000	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.664000|0.664000	0.39144|0.39144	-1.866000|-1.866000	0.01647|0.01647	-0.244000|-0.244000	0.09639|0.09639	0.416000|0.416000	0.27883|0.27883	CAC|ACC	ZNF468	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	G	NM_001008801		53344188	-1	no_errors	ENST00000595646	ensembl	human	known	70_37	missense	SNP	0.003	T	T	53344188	G	T	53344188	3	4	36	1	0	0	0	0	1	0	0	0	17958	1252	44	4	213	4	ZNF468	19	53344188	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	19988628	53344188	5784795	59	5069										
USP29	57663	genome.wustl.edu	37	chr19	57641624	57641624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttgctggtgaagaataacgaGcaagtttatattcccaaatc	8	7	0	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:57641624G>T	ENST00000254181.4	+	4	2035	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	USP29_ENST00000598197.1_Missense_Mutation_p.E527D	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	527	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATAACGAGCAAGTTTATA	0.413																																																	0													127	133	131					19																	57641624		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1581G>T	19.37:g.57641624G>T	ENSP00000254181:p.Glu527Asp			Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E527D	ENST00000254181.4	37	c.1581	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	5.725	0.318215	0.10845	.	.	ENSG00000131864	ENST00000254181	T	0.30182	1.54	2.52	0.199	0.15175	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.433100	0.05336	U	0.529317	T	0.17450	0.0419	N	0.11427	0.14	0.21105	N	0.999781	B	0.20887	0.049	B	0.18871	0.023	T	0.31223	-0.9951	10	0.72032	D	0.01	-2.6081	5.8973	0.18947	0.3295:0.0:0.6705:0.0	.	527	Q9HBJ7	UBP29_HUMAN	D	527	ENSP00000254181:E527D	ENSP00000254181:E527D	E	+	3	2	USP29	62333436	1.000000	0.71417	0.002000	0.10522	0.100000	0.18952	1.498000	0.35660	0.078000	0.16900	0.467000	0.42956	GAG	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57641624	1	no_errors	ENST00000254181	ensembl	human	known	70_37	missense	SNP	0.998	T	T	57641624	G	T	57641624	3	4	36	1	0	0	0	0	1	0	0	0	17090	962	34	4	1583	4	USP29	19	57641624	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	4297436	57641624	1487359	60	5070										
ZSCAN18	65982	genome.wustl.edu	37	chr19	58596127	58596127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ggaccgcccgccctagccccCgcctgggcttcgcgggtgga	15	18	0	0			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:58596127C>T	ENST00000240727.6	-	7	1857	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	ZSCAN18_ENST00000600404.1_Silent_p.A542A|ZSCAN18_ENST00000421612.2_Silent_p.A350A|ZSCAN18_ENST00000601144.1_Silent_p.A486A	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	486					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCTAGCCCCCGCCTGGGCTT	0.741																																																	0													7	8	8					19																	58596127		2093	4114	6207	SO:0001819	synonymous_variant	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1458G>A	19.37:g.58596127C>T			B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A542	ENST00000240727.6	37	c.1626	CCDS12971.1	19																																																																																			ZSCAN18	-	NULL		0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	C	NM_023926		58596127	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	silent	SNP	0.000	T	T	58596127	C	T	58596127	2	4	36	1	0	0	0	0	0	0	0	1	18260	639	23	2		2	ZSCAN18	19	58596127	Silent	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	954503	58596127	532856	61	5071										
ASXL1	171023	genome.wustl.edu	37	chr20	31020682	31020682	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	aagaggtttatttctccctaGgtgaatttactcatgagatg	9	6	2	3			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr20:31020682G>T	ENST00000375687.4	+	11	1403		c.e11-1		ASXL1_ENST00000306058.5_Splice_Site	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTTCTCCCTAGGTGAATTTAC	0.388			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													87	84	85					20																	31020682		2203	4300	6503	SO:0001630	splice_region_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.980-1G>T	20.37:g.31020682G>T			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Splice_Site	SNP	-	e11-1	ENST00000375687.4	37	c.980-1	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102388	0.76983	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8984	0.88896	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL1	30484343	1.000000	0.71417	0.962000	0.40283	0.435000	0.31806	9.073000	0.93992	2.452000	0.82932	0.655000	0.94253	.	ASXL1	-	-		0.388	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	G	NM_015338	Intron	31020682	1	no_errors	ENST00000375687	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	31020682	G	T	31020682	5	4	36	1	0	0	0	0	0	0	1	0	1067	1014	35	4	1027	4	ASXL1	20	31020682	Splice_Site	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		31020682	32004838	62	5072										
CELSR1	9620	genome.wustl.edu	37	chr22	46790106	46790106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ctttgctgacggcacagtggCagggtccacagacggggttc	15	11	0	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr22:46790106C>T	ENST00000262738.3	-	14	5896	c.5897G>A	c.(5896-5898)tGc>tAc	p.C1966Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1966	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCACAGTGGCAGGGTCCACA	0.587																																																	0													71	53	59					22																	46790106		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5897G>A	22.37:g.46790106C>T	ENSP00000262738:p.Cys1966Tyr		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C1966Y	ENST00000262738.3	37	c.5897	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677377	0.68042	.	.	ENSG00000075275	ENST00000262738	D	0.86694	-2.16	3.47	3.47	0.39725	.	0.000000	0.85682	U	0.000000	D	0.93019	0.7778	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.94214	0.7461	10	0.87932	D	0	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	287;1966	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	Y	1966	ENSP00000262738:C1966Y	ENSP00000262738:C1966Y	C	-	2	0	CELSR1	45168770	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.222000	0.78025	1.663000	0.50791	0.462000	0.41574	TGC	CELSR1	-	NULL		0.587	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246		46790106	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46790106	C	T	46790106	3	4	36	1	0	0	0	0	1	0	0	0	3226	710	25	4	3235	4	CELSR1	22	46790106	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09		46790106	4514460	63	5073										
ATXN3L	92552	genome.wustl.edu	37	chrX	13337277	13337277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agatcttgcgatgtgtttccGgaactaccttgcatgcttaa	9	9	1	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:13337277G>A	ENST00000380622.2	-	1	1241	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	259					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATGTGTTTCCGGAACTACCTT	0.428																																																	0													350	302	317					X																	13337277		1568	3582	5150	SO:0001819	synonymous_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.777C>T	X.37:g.13337277G>A			B2RNY8	Silent	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.S259	ENST00000380622.2	37	c.777	CCDS48080.1	X																																																																																			ATXN3L	-	smart_Ubiquitin-int_motif		0.428	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	G	NM_001135995		13337277	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	silent	SNP	0.010	A	A	13337277	G	A	13337277	2	1	36	1	0	0	0	0	0	0	0	1	1215	1103	39	2		2	ATXN3L	23	13337277	Silent	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09		13337277	141933283	64	5074										
HDAC6	10013	genome.wustl.edu	37	chrX	48681793	48681793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tacactggcccagaccacctCggaggcagccatggagggag	14	13	0	1	rs375164434		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:48681793C>T	ENST00000334136.5	+	25	3162	c.2984C>T	c.(2983-2985)tCg>tTg	p.S995L	HDAC6_ENST00000376619.2_Missense_Mutation_p.S995L|HDAC6_ENST00000444343.2_Missense_Mutation_p.S1009L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	995					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CAGACCACCTCGGAGGCAGCC	0.632																																					Pancreas(112;205 1675 2305 8976 15959)												0								C	LEU/SER	0,3831		0,0,1632,567	23	24	23		2984	3.4	0	X		23	1,6724		0,1,2426,1871	no	missense	HDAC6	NM_006044.2	145	0,1,4058,2438	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging	995/1216	48681793	1,10555	2199	4298	6497	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2984C>T	X.37:g.48681793C>T	ENSP00000334061:p.Ser995Leu		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.S1009L	ENST00000334136.5	37	c.3026	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397539	0.62177	0.0	1.49E-4	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.63417	-0.04;-0.03;-0.03	3.41	3.41	0.39046	.	2.131640	0.03620	U	0.236243	T	0.48892	0.1525	N	0.19112	0.55	0.09310	N	0.999994	P;D;P;P	0.62365	0.614;0.991;0.949;0.614	B;B;B;B	0.43889	0.144;0.435;0.435;0.144	T	0.43814	-0.9368	10	0.27082	T	0.32	.	6.0041	0.19537	0.0:0.8512:0.0:0.1488	.	985;358;643;995	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	L	1009;995;995	ENSP00000398566:S1009L;ENSP00000334061:S995L;ENSP00000365804:S995L	ENSP00000334061:S995L	S	+	2	0	HDAC6	48566737	0.330000	0.24705	0.019000	0.16419	0.933000	0.57130	0.569000	0.23638	1.682000	0.51000	0.600000	0.82982	TCG	HDAC6	-	NULL		0.632	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48681793	1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	0.011	T	T	48681793	C	T	48681793	3	4	36	1	0	0	0	0	1	0	0	0	7031	893	31	1	3078	1	HDAC6	23	48681793	Missense_Mutation	SNP	C	TCGA-C5-A2M2-01A-21D-A18J-09	35344516	48681793	106588767	65	5075										
VSIG4	11326	genome.wustl.edu	37	chrX	65242304	65242304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	ttgcgaagatggccaccctcAtggtttctccagagtcgttg	11	11	2	2			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:65242304A>C	ENST00000374737.4	-	8	1109	c.1001T>G	c.(1000-1002)aTg>aGg	p.M334R	VSIG4_ENST00000412866.2_Missense_Mutation_p.M240R|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	334					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCACCCTCATGGTTTCTCC	0.567																																																	0													59	42	47					X																	65242304		2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1001T>G	X.37:g.65242304A>C	ENSP00000363869:p.Met334Arg		Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.M334R	ENST00000374737.4	37	c.1001	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	A	6.392	0.440465	0.12104	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.25414	1.8;2.22	4.51	-0.39	0.12450	.	0.845481	0.10185	N	0.705309	T	0.21307	0.0513	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.32620	0.378;0.261	B;B	0.34931	0.192;0.094	T	0.29088	-1.0023	10	0.59425	D	0.04	-1.622	3.9067	0.09185	0.4042:0.2269:0.3689:0.0	.	240;334	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	R	334;240	ENSP00000363869:M334R;ENSP00000394143:M240R	ENSP00000363869:M334R	M	-	2	0	VSIG4	65159029	0.001000	0.12720	0.005000	0.12908	0.028000	0.11728	-0.025000	0.12413	-0.046000	0.13446	0.417000	0.27973	ATG	VSIG4	-	NULL		0.567	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	A	NM_007268		65242304	-1	no_errors	ENST00000374737	ensembl	human	known	70_37	missense	SNP	0.001	C	C	65242304	A	C	65242304	3	2	36	1	0	0	0	0	1	0	0	0	17256	217	8	5	202	5	VSIG4	23	65242304	Missense_Mutation	SNP	A	TCGA-C5-A2M2-01A-21D-A18J-09	16560511	65242304	90028256	66	5076										
VSIG1	340547	genome.wustl.edu	37	chrX	107320504	107320504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	tcgagctggagctggagccaGaaacgcagtcggaattggag	16	8	0	1			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:107320504G>A	ENST00000217957.5	+	7	1174	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	VSIG1_ENST00000415430.3_Missense_Mutation_p.E389K	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	353						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTGGAGCCAGAAACGCAGTC	0.567																																																	0													77	73	74					X																	107320504		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1057G>A	X.37:g.107320504G>A	ENSP00000217957:p.Glu353Lys		C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E389K	ENST00000217957.5	37	c.1165	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192225	0.38707	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.39997	1.05;1.05	3.86	-1.85	0.07784	.	2.146210	0.01911	N	0.039854	T	0.33673	0.0871	L	0.50333	1.59	0.09310	N	1	B;B	0.30068	0.267;0.267	B;B	0.25291	0.026;0.059	T	0.17684	-1.0361	10	0.07325	T	0.83	.	9.5861	0.39517	0.0:0.6017:0.244:0.1543	.	389;353	C9J4P2;Q86XK7	.;VSIG1_HUMAN	K	389;353	ENSP00000402219:E389K;ENSP00000217957:E353K	ENSP00000217957:E353K	E	+	1	0	VSIG1	107207160	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.013000	0.12678	-0.541000	0.06257	0.422000	0.28245	GAA	VSIG1	-	NULL		0.567	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	G	NM_182607		107320504	1	no_errors	ENST00000415430	ensembl	human	known	70_37	missense	SNP	0.000	A	A	107320504	G	A	107320504	3	1	36	1	0	0	0	0	1	0	0	0	17253	943	33	1	1195	1	VSIG1	23	107320504	Missense_Mutation	SNP	G	TCGA-C5-A2M2-01A-21D-A18J-09	42078200	107320504	47950056	67	5077										
SLC25A5	292	genome.wustl.edu	37	chrX	118604982	118604982	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.430791788856305	3.15913978494624	0.231156569630212	1	1	0	agaggcatgggtggtgctttTgtgcttgtcttgtatgatga	15	4	1	3			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:118604982T>G	ENST00000317881.8	+	4	974	c.858T>G	c.(856-858)ttT>ttG	p.F286L	SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	286					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GTGGTGCTTTTGTGCTTGTCT	0.428																																																	0													87	64	72					X																	118604982		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.858T>G	X.37:g.118604982T>G	ENSP00000360671:p.Phe286Leu		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.F286L	ENST00000317881.8	37	c.858	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	T	2.376	-0.343173	0.05243	.	.	ENSG00000005022	ENST00000317881	T	0.75589	-0.95	5.29	4.12	0.48240	Mitochondrial carrier domain (2);	0.103174	0.64402	D	0.000002	T	0.37625	0.1010	N	0.00879	-1.12	0.58432	D	0.999994	B	0.06786	0.001	B	0.10450	0.005	T	0.40942	-0.9536	10	0.02654	T	1	.	8.6883	0.34251	0.0:0.1642:0.0:0.8358	.	286	P05141	ADT2_HUMAN	L	286	ENSP00000360671:F286L	ENSP00000360671:F286L	F	+	3	2	SLC25A5	118489010	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.297000	0.33400	0.751000	0.32900	0.481000	0.45027	TTT	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.428	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	T	NM_001152		118604982	1	no_errors	ENST00000317881	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118604982	T	G	118604982	3	3	36	1	0	0	0	0	1	0	0	0	14542	1809	63	5	872	5	SLC25A5	23	118604982	Missense_Mutation	SNP	T	TCGA-C5-A2M2-01A-21D-A18J-09	11284478	118604982	36665578	68	5078										
VPS13D	55187	genome.wustl.edu	37	chr1	12433879	12433879	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ggagctcgttttggatgtctCacccaagacacaaagagtca	10	10	2	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:12433879C>T	ENST00000358136.3	+	55	11013	c.10883C>T	c.(10882-10884)tCa>tTa	p.S3628L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.S3603L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGATGTCTCACCCAAGACA	0.418																																																	0													42	44	43					1																	12433879		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10883C>T	1.37:g.12433879C>T	ENSP00000350854:p.Ser3628Leu			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S3628L	ENST00000358136.3	37	c.10883	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.48|16.48	3.135864|3.135864	0.56936|0.56936	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51325	.|0.71;0.71	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.260088	.|0.37906	.|N	.|0.001894	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28933	.|0.228;0.136	.|B;B	.|0.34824	.|0.19;0.05	T|T	0.22906|0.22906	-1.0203|-1.0203	5|10	.|0.39692	.|T	.|0.17	.|.	14.1201|14.1201	0.65182|0.65182	0.1504:0.8496:0.0:0.0|0.1504:0.8496:0.0:0.0	.|.	.|3603;3627	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	Y|L	2450|3603;3628	.|ENSP00000348666:S3603L;ENSP00000350854:S3628L	.|ENSP00000348666:S3603L	H|S	+|+	1|2	0|0	VPS13D|VPS13D	12356466|12356466	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.726000|0.726000	0.41606|0.41606	5.595000|5.595000	0.67563|0.67563	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CAC|TCA	VPS13D	-	NULL		0.418	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12433879	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.999	T	T	12433879	C	T	12433879	3	4	37	1	0	0	0	0	1	0	0	0	17223	838	29	1	11097	1	VPS13D	1	12433879	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		12433879	236816742	1	5079										
SPOCD1	90853	genome.wustl.edu	37	chr1	32279571	32279571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ccagtctggggcagcctcctGggctgggttcctctggcctg	15	14	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:32279571G>T	ENST00000360482.2	-	2	1493	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	SPOCD1_ENST00000373648.2_Missense_Mutation_p.P455Q|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P455Q|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	455					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAGCCTCCTGGGCTGGGTTC	0.542																																																	0													75	79	78					1																	32279571		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1364C>A	1.37:g.32279571G>T	ENSP00000353670:p.Pro455Gln		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.P455Q	ENST00000360482.2	37	c.1364	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706662	0.15239	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.39229	1.89;1.09;1.9	3.62	0.516	0.17019	.	.	.	.	.	T	0.24928	0.0605	N	0.19112	0.55	0.09310	N	1	P;B	0.35656	0.514;0.38	B;B	0.34873	0.191;0.093	T	0.15954	-1.0419	9	0.87932	D	0	0.5317	5.2163	0.15344	0.2061:0.0:0.6309:0.163	.	455;455	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	Q	455	ENSP00000353670:P455Q;ENSP00000362752:P455Q;ENSP00000435851:P455Q	ENSP00000353670:P455Q	P	-	2	0	SPOCD1	32052158	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.546000	0.23284	-0.108000	0.12066	-1.644000	0.00765	CCA	SPOCD1	-	NULL		0.542	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	G	NM_144569		32279571	-1	no_errors	ENST00000360482	ensembl	human	known	70_37	missense	SNP	0.000	T	T	32279571	G	T	32279571	3	4	37	1	0	0	0	0	1	0	0	0	15108	1348	47	4	2346	4	SPOCD1	1	32279571	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	19845692	32279571	216971050	2	5080										
ZFYVE9	9372	genome.wustl.edu	37	chr1	52704665	52704665	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tttatgaacagagaggaaatGaggccacagaagggagtgga	15	4	0	4			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:52704665G>A	ENST00000371591.1	+	3	1707	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E526K|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E526K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	526					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAGAGGAAATGAGGCCACAGA	0.363																																																	0													51	52	52					1																	52704665		2203	4299	6502	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1576G>A	1.37:g.52704665G>A	ENSP00000360647:p.Glu526Lys		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E526K	ENST00000371591.1	37	c.1576	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902138	0.52227	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.60171	0.67;0.21;0.78;0.78	5.69	5.69	0.88448	.	0.095077	0.43579	D	0.000549	T	0.55033	0.1895	L	0.27053	0.805	0.42288	D	0.992124	P;P;P	0.46142	0.592;0.651;0.873	B;B;P	0.46659	0.254;0.165;0.523	T	0.56438	-0.7979	10	0.48119	T	0.1	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	526;526;526	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	K	526	ENSP00000349737:E526K;ENSP00000355358:E526K;ENSP00000287727:E526K;ENSP00000360647:E526K	ENSP00000287727:E526K	E	+	1	0	ZFYVE9	52477253	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.993000	0.76245	2.690000	0.91761	0.655000	0.94253	GAG	ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	G	NM_007324		52704665	1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52704665	G	A	52704665	3	1	37	1	0	0	0	0	1	0	0	0	17701	1291	45	1	1582	1	ZFYVE9	1	52704665	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	20425094	52704665	196545956	3	5081										
CYP2J2	1573	genome.wustl.edu	37	chr1	60359403	60359403	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aaacttcaggctcagcttctCattgtttgggggcctgaagg	12	9	3	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:60359403C>T	ENST00000371204.3	-	9	1472	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	477					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTCAGCTTCTCATTGTTTGGG	0.473																																																	0													216	235	229					1																	60359403		2203	4300	6503	SO:0001583	missense	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1429G>A	1.37:g.60359403C>T	ENSP00000360247:p.Glu477Lys		B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.E477K	ENST00000371204.3	37	c.1429	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238533	0.58886	.	.	ENSG00000134716	ENST00000371204	T	0.68479	-0.33	5.77	4.67	0.58626	.	0.512317	0.20522	N	0.090691	T	0.63094	0.2482	L	0.50993	1.605	0.25959	N	0.982646	B	0.28760	0.221	B	0.38921	0.285	T	0.58312	-0.7658	10	0.52906	T	0.07	.	7.5494	0.27786	0.1686:0.7379:0.0:0.0935	.	477	P51589	CP2J2_HUMAN	K	477	ENSP00000360247:E477K	ENSP00000360247:E477K	E	-	1	0	CYP2J2	60131991	0.003000	0.15002	0.993000	0.49108	0.891000	0.51852	0.873000	0.28052	2.734000	0.93682	0.655000	0.94253	GAG	CYP2J2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.473	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	C	NM_000775		60359403	-1	no_errors	ENST00000371204	ensembl	human	known	70_37	missense	SNP	0.743	T	T	60359403	C	T	60359403	3	4	37	1	0	0	0	0	1	0	0	0	4177	835	29	1	83	1	CYP2J2	1	60359403	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	7654738	60359403	188891218	4	5082										
LRIG2	9860	genome.wustl.edu	37	chr1	113657360	113657360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cttcccagagtagcattgggCatgaagatgatggctggacc	13	9	0	4			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:113657360C>T	ENST00000361127.5	+	15	2590	c.2392C>T	c.(2392-2394)Cat>Tat	p.H798Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	798					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TAGCATTGGGCATGAAGATGA	0.448																																																	0													222	167	186					1																	113657360		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2392C>T	1.37:g.113657360C>T	ENSP00000355396:p.His798Tyr		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H798Y	ENST00000361127.5	37	c.2392	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073278	0.08485	.	.	ENSG00000198799	ENST00000361127	T	0.61510	0.1	5.28	4.37	0.52481	.	0.121175	0.64402	N	0.000016	T	0.10252	0.0251	N	0.04508	-0.205	0.36764	D	0.883454	B	0.09022	0.002	B	0.06405	0.002	T	0.28427	-1.0044	10	0.02654	T	1	.	6.1798	0.20465	0.1507:0.6957:0.0:0.1537	.	798	O94898	LRIG2_HUMAN	Y	798	ENSP00000355396:H798Y	ENSP00000355396:H798Y	H	+	1	0	LRIG2	113458883	0.973000	0.33851	0.995000	0.50966	0.937000	0.57800	1.877000	0.39598	1.223000	0.43536	-0.258000	0.10820	CAT	LRIG2	-	NULL		0.448	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	C	NM_014813		113657360	1	no_errors	ENST00000361127	ensembl	human	known	70_37	missense	SNP	0.935	T	T	113657360	C	T	113657360	3	4	37	1	0	0	0	0	1	0	0	0	8968	710	25	4	2450	4	LRIG2	1	113657360	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	53297957	113657360	135593261	5	5083										
HRNR	388697	genome.wustl.edu	37	chr1	152192981	152192981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctgacgtagatccatgttgtCcctggctagaggagtgacct	12	10	0	4	rs555346363		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:152192981C>T	ENST00000368801.2	-	3	1199	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	375					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGTTGTCCCTGGCTAGA	0.557																																																	0													175	156	163					1																	152192981		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1124G>A	1.37:g.152192981C>T	ENSP00000357791:p.Gly375Glu		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G375E	ENST00000368801.2	37	c.1124	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.033	0.561038	0.13498	.	.	ENSG00000197915	ENST00000368801	T	0.02974	4.09	4.53	0.591	0.17465	.	.	.	.	.	T	0.00637	0.0021	N	0.19112	0.55	0.09310	N	1	B	0.30281	0.275	B	0.27076	0.076	T	0.45234	-0.9275	9	0.22706	T	0.39	.	7.9096	0.29782	0.0:0.6402:0.0:0.3598	.	375	Q86YZ3	HORN_HUMAN	E	375	ENSP00000357791:G375E	ENSP00000357791:G375E	G	-	2	0	HRNR	150459605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.307000	0.02733	-0.044000	0.13491	-0.147000	0.13772	GGA	HRNR	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152192981	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152192981	C	T	152192981	3	4	37	1	0	0	0	0	1	0	0	0	7379	855	30	1	7432	1	HRNR	1	152192981	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	38535621	152192981	97057640	6	5084										
SPTA1	6708	genome.wustl.edu	37	chr1	158627368	158627368	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	caggtcagccaggtactgctGgaactggacattggcttcaa	12	10	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:158627368G>A	ENST00000368147.4	-	19	2884	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	902					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTACTGCTGGAACTGGACA	0.473																																																	0													179	177	177					1																	158627368		2009	4198	6207	SO:0001587	stop_gained	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2704C>T	1.37:g.158627368G>A	ENSP00000357129:p.Gln902*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q902*	ENST00000368147.4	37	c.2704	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.669935	0.99234	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	4.67	0.58626	.	0.000000	0.30771	N	0.008911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.6566	0.85230	0.0:0.0:1.0:0.0	.	.	.	.	X	902	.	ENSP00000357129:Q902X	Q	-	1	0	SPTA1	156893992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.424000	0.90267	2.573000	0.86826	0.655000	0.94253	CAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158627368	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	158627368	G	A	158627368	4	1	37	1	0	0	0	0	0	1	0	0	15146	1357	47	4	4691	4	SPTA1	1	158627368	Nonsense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	6434387	158627368	90623253	7	5085										
BAT2L2	23215	genome.wustl.edu	37	chr1	171509483	171509483	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcagatgcattgattcaaaaGaaccaatagaaaggccagag	10	7	1	5			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:171509483G>C	ENST00000338920.4	+	16	3109	c.2872G>C	c.(2872-2874)Gaa>Caa	p.E958Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E960Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E958Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E960Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	958					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGATTCAAAAGAACCAATAGA	0.393																																																	0													34	32	33					1																	171509483		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2872G>C	1.37:g.171509483G>C	ENSP00000343629:p.Glu958Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E960Q	ENST00000338920.4	37	c.2878	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281521	0.23392	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.94	5.94	0.96194	.	0.000000	0.48286	D	0.000188	T	0.11110	0.0271	L	0.34521	1.04	0.49582	D	0.999803	D	0.67145	0.996	P	0.62298	0.9	T	0.01819	-1.1267	10	0.56958	D	0.05	.	15.1871	0.73012	0.0:0.0:0.8592:0.1408	.	958	Q9Y520-4	.	Q	960;959;958;960;958;715;717	ENSP00000375928:E960Q;ENSP00000410219:E958Q;ENSP00000356716:E960Q;ENSP00000343629:E958Q	ENSP00000343629:E958Q	E	+	1	0	PRRC2C	169776107	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	5.666000	0.68059	2.831000	0.97527	0.644000	0.83932	GAA	PRRC2C	-	NULL		0.393	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	G	NM_015172		171509483	1	no_errors	ENST00000392078	ensembl	human	known	70_37	missense	SNP	1.000	C	C	171509483	G	C	171509483	3	2	37	1	0	0	0	0	1	0	0	0	1322	943	33	1	2930	1	BAT2L2	1	171509483	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	12882115	171509483	77741138	8	5086										
C1orf125	126859	genome.wustl.edu	37	chr1	179503884	179503884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gggaggttgaaaatagagccAgacaggcagaggagaagttt	16	4	0	5			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:179503884A>G	ENST00000367618.3	+	25	3205	c.2818A>G	c.(2818-2820)Aga>Gga	p.R940G		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	940	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAATAGAGCCAGACAGGCAGA	0.343																																																	0													65	66	66					1																	179503884		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2818A>G	1.37:g.179503884A>G	ENSP00000356590:p.Arg940Gly		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R940G	ENST00000367618.3	37	c.2818	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	A	8.291	0.817694	0.16607	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.22336	1.96;1.96	4.89	3.68	0.42216	.	0.355710	0.25146	N	0.032783	T	0.13114	0.0318	N	0.24115	0.695	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.22152	0.038;0.031	T	0.09143	-1.0688	10	0.25106	T	0.35	-6.4852	8.765	0.34698	0.7448:0.2552:0.0:0.0	.	824;940	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	G	940;824;800	ENSP00000356590:R940G;ENSP00000391716:R800G	ENSP00000353471:R824G	R	+	1	2	AXDND1	177770507	0.849000	0.29639	0.932000	0.37286	0.154000	0.21943	1.395000	0.34520	2.179000	0.69175	0.482000	0.46254	AGA	AXDND1	-	NULL		0.343	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	A	NM_144696		179503884	1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.886	G	G	179503884	A	G	179503884	3	3	37	1	0	0	0	0	1	0	0	0	1998	180	7	5	2912	5	C1orf125	1	179503884	Missense_Mutation	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	7994401	179503884	69746737	9	5087										
PTPRC	5788	genome.wustl.edu	37	chr1	198701657	198701657	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gataaacggagatgcagggtCaaactacataaatgccagct	10	8	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:198701657C>G	ENST00000367376.2	+	20	2279	c.2108C>G	c.(2107-2109)tCa>tGa	p.S703*	PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S544*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S655*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S705*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S542*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	703	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATGCAGGGTCAAACTACATA	0.313																																																	0													81	78	79					1																	198701657		2202	4300	6502	SO:0001587	stop_gained	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2108C>G	1.37:g.198701657C>G	ENSP00000356346:p.Ser703*		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S705*	ENST00000367376.2	37	c.2114		1	.	.	.	.	.	.	.	.	.	.	C	37	6.041812	0.97231	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	5.82	5.82	0.92795	.	0.000000	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2818	0.90101	0.0:1.0:0.0:0.0	.	.	.	.	X	705;639;655;655;589;703;637;542	.	ENSP00000306782:S542X	S	+	2	0	PTPRC	196968280	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.917000	0.56424	2.748000	0.94277	0.655000	0.94253	TCA	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		C			198701657	1	no_errors	ENST00000442510	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	198701657	C	G	198701657	4	3	37	1	0	0	0	0	0	1	0	0	12827	838	29	1	2193	1	PTPRC	1	198701657	Nonsense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	19197773	198701657	50548964	10	5088										
TMCC2	9911	genome.wustl.edu	37	chr1	205210732	205210732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aaagggagcaccagacgtctCaggattcccagcagcatcag	11	12	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:205210732C>G	ENST00000358024.3	+	2	696	c.307C>G	c.(307-309)Cag>Gag	p.Q103E	TMCC2_ENST00000545499.1_Missense_Mutation_p.Q25E|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	103						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGACGTCTCAGGATTCCCA	0.597																																																	0													85	69	74					1																	205210732		2203	4300	6503	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.307C>G	1.37:g.205210732C>G	ENSP00000350718:p.Gln103Glu		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.Q103E	ENST00000358024.3	37	c.307	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490054	0.44249	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.33216	1.43;1.42	4.78	4.78	0.61160	.	0.431958	0.22419	N	0.060314	T	0.19967	0.0480	N	0.08118	0	0.40263	D	0.978196	B	0.23316	0.083	B	0.18871	0.023	T	0.11060	-1.0603	10	0.87932	D	0	.	17.7739	0.88501	0.0:1.0:0.0:0.0	.	103	O75069	TMCC2_HUMAN	E	103;25	ENSP00000350718:Q103E;ENSP00000437943:Q25E	ENSP00000350718:Q103E	Q	+	1	0	TMCC2	203477355	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.427000	0.73378	2.360000	0.80028	0.462000	0.41574	CAG	TMCC2	-	NULL		0.597	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	C	NM_014858		205210732	1	no_errors	ENST00000358024	ensembl	human	known	70_37	missense	SNP	1.000	G	G	205210732	C	G	205210732	3	3	37	1	0	0	0	0	1	0	0	0	16023	827	29	1	313	1	TMCC2	1	205210732	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	6509075	205210732	44039889	11	5089										
LYPLAL1	127018	genome.wustl.edu	37	chr1	219347293	219347293	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tgtcgccggcagggaggcatAgcgcctctctgatcttcctg	13	13	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:219347293A>T	ENST00000366928.5	+	1	108	c.61A>T	c.(61-63)Agc>Tgc	p.S21C	LYPLAL1_ENST00000366927.3_Missense_Mutation_p.S21C|LYPLAL1_ENST00000483635.1_3'UTR|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	21					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		AGGGAGGCATAGCGCCTCTCT	0.592																																																	0													89	79	82					1																	219347293		2203	4300	6503	SO:0001583	missense	127018			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.61A>T	1.37:g.219347293A>T	ENSP00000355895:p.Ser21Cys		A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put	p.S21C	ENST00000366928.5	37	c.61	CCDS1522.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984612	0.74474	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.23950	1.88;1.88	5.14	3.98	0.46160	Phospholipase/carboxylesterase/thioesterase (1);	0.295055	0.36893	N	0.002345	T	0.41534	0.1163	M	0.69358	2.11	0.40100	D	0.976366	D;D	0.76494	0.999;0.999	P;P	0.61070	0.869;0.883	T	0.36841	-0.9731	10	0.87932	D	0	.	8.26	0.31779	0.8236:0.0:0.0:0.1764	.	21;21	Q5VWZ2-2;Q5VWZ2	.;LYPL1_HUMAN	C	21	ENSP00000355895:S21C;ENSP00000355894:S21C	ENSP00000355894:S21C	S	+	1	0	LYPLAL1	217413916	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.194000	0.42668	1.045000	0.40225	0.482000	0.46254	AGC	LYPLAL1	-	pfam_PLipase/COase/thioEstase		0.592	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	A	NM_138794		219347293	1	no_errors	ENST00000366928	ensembl	human	known	70_37	missense	SNP	1.000	T	T	219347293	A	T	219347293	3	4	37	1	0	0	0	0	1	0	0	0	9141	420	15	5	63	5	LYPLAL1	1	219347293	Missense_Mutation	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	14136561	219347293	29903328	12	5090										
AIDA	64853	genome.wustl.edu	37	chr1	222867561	222867561	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aaactccttacctgtaaagcTgcacttcgcaattccaagca	5	13	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:222867561T>A	ENST00000340020.6	-	3	431	c.225A>T	c.(223-225)gcA>gcT	p.A75A	AIDA_ENST00000355727.2_Silent_p.A75A|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Silent_p.A51A	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	75					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTGTAAAGCTGCACTTCGCA	0.313																																																	0													126	139	135					1																	222867561		2203	4297	6500	SO:0001819	synonymous_variant	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.225A>T	1.37:g.222867561T>A			A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Silent	SNP	pfam_AIDA,superfamily_AIDA_N	p.A75	ENST00000340020.6	37	c.225	CCDS1533.1	1																																																																																			AIDA	-	pfam_AIDA,superfamily_AIDA_N		0.313	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	T	NM_022831		222867561	-1	no_errors	ENST00000340020	ensembl	human	known	70_37	silent	SNP	1.000	A	A	222867561	T	A	222867561	2	1	37	1	0	0	0	0	0	0	0	1	423	1567	55	5		5	AIDA	1	222867561	Silent	SNP	T	TCGA-C5-A3HD-01B-11D-A20U-09	3520268	222867561	26383060	13	5091										
CEP170	9859	genome.wustl.edu	37	chr1	243388488	243388488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	acacaattacctgcaacatgAgctcacagtcatctcttcca	4	14	3	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:243388488A>C	ENST00000366542.1	-	2	146	c.95T>G	c.(94-96)cTc>cGc	p.L32R	AC092782.1_ENST00000596590.1_Intron|CEP170_ENST00000366544.1_Missense_Mutation_p.L32R|CEP170_ENST00000366543.1_Missense_Mutation_p.L32R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	32	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGCAACATGAGCTCACAGTC	0.388																																																	0													60	58	59					1																	243388488		1919	4136	6055	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.95T>G	1.37:g.243388488A>C	ENSP00000355500:p.Leu32Arg		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.L32R	ENST00000366542.1	37	c.95	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480424	0.84747	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000522191;ENST00000523424;ENST00000522995	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.95	5.95	0.96441	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.	.	.	.	D	0.95538	0.8550	M	0.90542	3.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.988	D	0.96259	0.9189	9	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	32;32;32	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	R	32	ENSP00000355500:L32R;ENSP00000355502:L32R;ENSP00000355501:L32R;ENSP00000427944:L32R;ENSP00000428183:L32R;ENSP00000428400:L32R	ENSP00000355500:L32R	L	-	2	0	CEP170	241455111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	CTC	CEP170	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.388	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	A	NM_014812		243388488	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	C	C	243388488	A	C	243388488	3	2	37	1	0	0	0	0	1	0	0	0	3255	304	11	5	4765	5	CEP170	1	243388488	Missense_Mutation	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	20520927	243388488	5862133	14	5092										
FBXO11	80204	genome.wustl.edu	37	chr2	48059985	48059985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tctctaagcagtggtgtgcaTtgtggtgttgtgcagatttg	14	5	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:48059985T>G	ENST00000403359.3	-	9	1148	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000316377.4_Missense_Mutation_p.N275T|FBXO11_ENST00000402508.1_Missense_Mutation_p.N275T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	359					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGGTGTGCATTGTGGTGTTG	0.308			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											171	157	161					2																	48059985		2203	4300	6503	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1076A>C	2.37:g.48059985T>G	ENSP00000384823:p.Asn359Thr		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.N359T	ENST00000403359.3	37	c.1076	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.32|14.32	2.498943|2.498943	0.44455|0.44455	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377|ENST00000493962	T;T;T|.	0.43688|.	0.96;0.94;0.96|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52191|0.52191	0.1719|0.1719	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P|.	0.49559|.	0.925|.	D|.	0.65140|.	0.932|.	T|T	0.49072|0.49072	-0.8977|-0.8977	10|5	0.17369|.	T|.	0.5|.	-22.7902|-22.7902	16.4534|16.4534	0.84003|0.84003	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	359|.	Q86XK2|.	FBX11_HUMAN|.	T|H	275;359;275|150	ENSP00000385398:N275T;ENSP00000384823:N359T;ENSP00000323822:N275T|.	ENSP00000323822:N275T|.	N|Q	-|-	2|3	0|2	FBXO11|FBXO11	47913489|47913489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.289000|6.289000	0.72696|0.72696	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	AAT|CAA	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like		0.308	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	T	NM_012167, NM_018693, NM_025133		48059985	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48059985	T	G	48059985	3	3	37	1	0	0	0	0	1	0	0	0	5745	1493	52	5	1857	5	FBXO11	2	48059985	Missense_Mutation	SNP	T	TCGA-C5-A3HD-01B-11D-A20U-09		48059985	195139388	15	5093										
RGPD3	653489	genome.wustl.edu	37	chr2	107052631	107052631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcagagcaggttgaaggccaTgtttttcctgggctcttaga	13	8	1	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:107052631T>C	ENST00000409886.3	-	12	1793	c.1706A>G	c.(1705-1707)cAt>cGt	p.H569R	RGPD3_ENST00000304514.7_Missense_Mutation_p.H569R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	569					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGAAGGCCATGTTTTTCCTG	0.333																																																	0													3	6	6					2																	107052631		311	899	1210	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.1706A>G	2.37:g.107052631T>C	ENSP00000386588:p.His569Arg		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.H569R	ENST00000409886.3	37	c.1706	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142670	0.37825	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	D;D	0.82081	-1.57;-1.57	2.52	1.25	0.21368	.	.	.	.	.	T	0.79417	0.4442	M	0.64997	1.995	0.26157	N	0.98006	B	0.28026	0.198	B	0.31869	0.137	T	0.70539	-0.4844	9	0.66056	D	0.02	-10.426	6.7073	0.23258	0.0:0.0:0.2426:0.7574	.	569	A6NKT7	RGPD3_HUMAN	R	569;327;569	ENSP00000386588:H569R;ENSP00000303659:H569R	ENSP00000303659:H569R	H	-	2	0	RGPD3	106419063	1.000000	0.71417	0.994000	0.49952	0.705000	0.40729	3.890000	0.56220	0.197000	0.20387	0.156000	0.16432	CAT	RGPD3	-	NULL		0.333	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	T	XM_929931		107052631	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107052631	T	C	107052631	3	2	37	1	0	0	0	0	1	0	0	0	13317	1464	51	5	3618	5	RGPD3	2	107052631	Missense_Mutation	SNP	T	TCGA-C5-A3HD-01B-11D-A20U-09	58992646	107052631	136146742	16	5094										
SCN2A	6326	genome.wustl.edu	37	chr2	166211085	166211085	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tttataaacaaccctagcctCactgtgacagtaccaattgc	5	12	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:166211085C>T	ENST00000375437.2	+	17	3593	c.3303C>T	c.(3301-3303)ctC>ctT	p.L1101L	SCN2A_ENST00000283256.6_Silent_p.L1101L|SCN2A_ENST00000375427.2_Silent_p.L1101L|SCN2A_ENST00000357398.3_Silent_p.L1101L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1101					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCCTAGCCTCACTGTGACAG	0.388																																																	0													98	98	98					2																	166211085		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3303C>T	2.37:g.166211085C>T			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1101	ENST00000375437.2	37	c.3303	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Na_trans_assoc		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166211085	1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	1.000	T	T	166211085	C	T	166211085	2	4	37	1	0	0	0	0	0	0	0	1	13946	813	29	1		1	SCN2A	2	166211085	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	59158454	166211085	76988288	17	5095										
HOXD10	3236	genome.wustl.edu	37	chr2	176982188	176982188	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gagcccgtgagcggccaggaGcccaccaaagtctcccaggt	13	15	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:176982188G>C	ENST00000249501.4	+	1	882	c.627G>C	c.(625-627)gaG>gaC	p.E209D	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	209					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCGGCCAGGAGCCCACCAAAG	0.652																																																	0													22	28	26					2																	176982188		2194	4277	6471	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.627G>C	2.37:g.176982188G>C	ENSP00000249501:p.Glu209Asp		Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E209D	ENST00000249501.4	37	c.627	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409359	0.11812	.	.	ENSG00000128710	ENST00000249501	D	0.93811	-3.29	5.96	5.06	0.68205	.	0.321305	0.36972	N	0.002318	D	0.83885	0.5351	N	0.05534	-0.03	0.27355	N	0.956137	B	0.02656	0.0	B	0.01281	0.0	T	0.67181	-0.5735	10	0.13853	T	0.58	.	13.4303	0.61051	0.0:0.3701:0.6299:0.0	.	209	P28358	HXD10_HUMAN	D	209	ENSP00000249501:E209D	ENSP00000249501:E209D	E	+	3	2	HOXD10	176690434	0.990000	0.36364	1.000000	0.80357	0.967000	0.64934	1.699000	0.37804	2.843000	0.97960	0.650000	0.86243	GAG	HOXD10	-	NULL		0.652	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	G			176982188	1	no_errors	ENST00000249501	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176982188	G	C	176982188	3	2	37	1	0	0	0	0	1	0	0	0	7339	962	34	4	629	4	HOXD10	2	176982188	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	10771103	176982188	66217185	18	5096										
CASP8	841	genome.wustl.edu	37	chr2	202149611	202149611	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tgactgcacagtagagcaaaTctatgagattttgaaaatct	8	6	2	4			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:202149611T>A	ENST00000432109.2	+	9	1064	c.875T>A	c.(874-876)aTc>aAc	p.I292N	CASP8_ENST00000323492.7_Missense_Mutation_p.I277N|CASP8_ENST00000358485.4_Missense_Mutation_p.I351N|CASP8_ENST00000264275.5_Missense_Mutation_p.I309N|CASP8_ENST00000264274.9_Missense_Mutation_p.I208N|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	292					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTAGAGCAAATCTATGAGATT	0.448										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													124	112	116					2																	202149611		2203	4300	6503	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.875T>A	2.37:g.202149611T>A	ENSP00000412523:p.Ile292Asn		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.I351N	ENST00000432109.2	37	c.1052	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828134	0.71143	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.6	5.6	0.85130	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.049109	0.85682	D	0.000000	T	0.71204	0.3312	H	0.96805	3.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80390	-0.1402	10	0.87932	D	0	.	11.5331	0.50622	0.134:0.0:0.0:0.866	.	208;351;292;277;309	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	N	277;208;292;309;351;277;71	ENSP00000376091:I277N;ENSP00000264274:I208N;ENSP00000412523:I292N;ENSP00000264275:I309N;ENSP00000351273:I351N;ENSP00000325722:I277N;ENSP00000394434:I71N	ENSP00000264274:I208N	I	+	2	0	CASP8	201857856	1.000000	0.71417	0.106000	0.21319	0.002000	0.02628	5.631000	0.67812	2.138000	0.66242	0.533000	0.62120	ATC	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.448	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	T	NM_001228		202149611	1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	0.754	A	A	202149611	T	A	202149611	3	1	37	1	0	0	0	0	1	0	0	0	2682	1435	50	5	1182	5	CASP8	2	202149611	Missense_Mutation	SNP	T	TCGA-C5-A3HD-01B-11D-A20U-09	25167423	202149611	41049762	19	5097										
PARD3B	117583	genome.wustl.edu	37	chr2	206265774	206265774	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aggataagggtggaaaggctGagcagaaaggtactctgaaa	15	4	1	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:206265774G>A	ENST00000406610.2	+	19	2875	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K	PARD3B_ENST00000358768.2_Missense_Mutation_p.E828K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E890K|PARD3B_ENST00000351153.1_Missense_Mutation_p.E821K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	890	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGAAAGGCTGAGCAGAAAGG	0.438																																																	0													95	93	94					2																	206265774		1894	4125	6019	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2668G>A	2.37:g.206265774G>A	ENSP00000385848:p.Glu890Lys		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E890K	ENST00000406610.2	37	c.2668		2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631433	0.28978	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.45	5.45	0.79879	.	0.510435	0.20733	N	0.086671	T	0.25717	0.0626	L	0.43152	1.355	0.30420	N	0.778255	B;B;B;B	0.32245	0.361;0.079;0.066;0.13	B;B;B;B	0.24701	0.039;0.025;0.036;0.055	T	0.11941	-1.0567	10	0.13853	T	0.58	.	17.4265	0.87527	0.0:0.0:1.0:0.0	.	890;821;828;890	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	K	890;828;821;890	ENSP00000385848:E890K;ENSP00000351618:E828K;ENSP00000317261:E821K;ENSP00000340280:E890K	ENSP00000340280:E890K	E	+	1	0	PARD3B	205974019	0.997000	0.39634	0.924000	0.36721	0.466000	0.32739	5.920000	0.70017	2.705000	0.92388	0.655000	0.94253	GAG	PARD3B	-	NULL		0.438	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206265774	1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	0.964	A	A	206265774	G	A	206265774	3	1	37	1	0	0	0	0	1	0	0	0	11468	1291	45	1	2742	1	PARD3B	2	206265774	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	4116163	206265774	36933599	20	5098										
ZNF142	7701	genome.wustl.edu	37	chr2	219503090	219503090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	caggtccagtgtggggagcgGcaggagcaggagggctggga	22	7	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:219503090G>A	ENST00000449707.1	-	10	5457	c.5036C>T	c.(5035-5037)gCc>gTc	p.A1679V	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1679V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGGGGAGCGGCAGGAGCAGG	0.627																																					Colon(170;867 1942 8995 15834 18053)												0													25	28	27					2																	219503090		2039	4187	6226	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.5036C>T	2.37:g.219503090G>A	ENSP00000408643:p.Ala1679Val		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1679V	ENST00000449707.1	37	c.5036	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161022	0.57368	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11930	2.73;2.73	5.92	5.02	0.67125	.	0.195518	0.43416	D	0.000573	T	0.09905	0.0243	N	0.24115	0.695	0.09310	N	0.999992	B;B	0.27498	0.18;0.18	B;B	0.27796	0.083;0.083	T	0.22452	-1.0216	10	0.44086	T	0.13	-3.9385	9.7982	0.40748	0.0:0.1522:0.6899:0.1579	.	1679;1516	P52746;A8MWU9	ZN142_HUMAN;.	V	1679	ENSP00000408643:A1679V;ENSP00000398798:A1679V	ENSP00000398798:A1679V	A	-	2	0	ZNF142	219211334	0.555000	0.26530	0.502000	0.27614	0.413000	0.31143	2.143000	0.42187	1.445000	0.47624	0.609000	0.83330	GCC	ZNF142	-	NULL		0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	G	NM_005081		219503090	-1	no_errors	ENST00000411696	ensembl	human	known	70_37	missense	SNP	0.441	A	A	219503090	G	A	219503090	3	1	37	1	0	0	0	0	1	0	0	0	17761	1203	42	4	31	4	ZNF142	2	219503090	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	13237316	219503090	23696283	21	5099										
TRIP12	9320	genome.wustl.edu	37	chr2	230650475	230650475	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	accagactccaagctcacctCattttcatactggatttcta	4	13	4	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:230650475C>A	ENST00000283943.5	-	33	5045	c.4867G>T	c.(4867-4869)Gag>Tag	p.E1623*	TRIP12_ENST00000389045.3_Nonsense_Mutation_p.E1353*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.E1671*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1623					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAGCTCACCTCATTTTCATAC	0.443																																																	0													116	117	116					2																	230650475		2203	4300	6503	SO:0001587	stop_gained	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4867G>T	2.37:g.230650475C>A	ENSP00000283943:p.Glu1623*		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.E1623*	ENST00000283943.5	37	c.4867	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	46	12.458379	0.99669	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7491	0.96260	0.0:1.0:0.0:0.0	.	.	.	.	X	1623;1353;1671	.	ENSP00000283943:E1623X	E	-	1	0	TRIP12	230358719	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.405000	0.80007	2.661000	0.90470	0.585000	0.79938	GAG	TRIP12	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.443	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	C	NM_004238		230650475	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	230650475	C	A	230650475	4	1	37	1	0	0	0	0	0	1	0	0	16587	835	29	3	1147	3	TRIP12	2	230650475	Nonsense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	11147385	230650475	12548898	22	5100										
CCR4	1233	genome.wustl.edu	37	chr3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttttctgggggagaaatttcGcaagtacatcctacagctct	9	9	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478																																																	0													64	68	67					3																	32995849		2203	4300	6503	SO:0001583	missense	1233			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.935G>A	3.37:g.32995849G>A	ENSP00000332659:p.Arg312His		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.R312H	ENST00000330953.5	37	c.935	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068896	0.76301	.	.	ENSG00000183813	ENST00000330953	T	0.58358	0.34	5.73	5.73	0.89815	.	0.107611	0.39210	N	0.001435	T	0.71986	0.3405	M	0.84948	2.725	0.48288	D	0.999625	D	0.89917	1.0	D	0.64506	0.926	T	0.76187	-0.3051	10	0.87932	D	0	.	11.2774	0.49174	0.1148:0.0:0.8852:0.0	.	312	P51679	CCR4_HUMAN	H	312	ENSP00000332659:R312H	ENSP00000332659:R312H	R	+	2	0	CCR4	32970853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.362000	0.59467	2.706000	0.92434	0.563000	0.77884	CGC	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	G			32995849	1	no_errors	ENST00000330953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32995849	G	A	32995849	3	1	37	1	0	0	0	0	1	0	0	0	2948	1087	38	2	937	2	CCR4	3	32995849	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		32995849	165026581	23	5101										
ROBO1	6091	genome.wustl.edu	37	chr3	78649291	78649291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cttcattattatcttctcctCtttcatatcctccaagtacc	1	14	5	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:78649291C>G	ENST00000464233.1	-	30	5026	c.4913G>C	c.(4912-4914)aGa>aCa	p.R1638T	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1593T|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1599T|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1538T|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1638					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATCTTCTCCTCTTTCATATCC	0.363																																																	0													156	145	149					3																	78649291		1844	4089	5933	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4913G>C	3.37:g.78649291C>G	ENSP00000420321:p.Arg1638Thr		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1638T	ENST00000464233.1	37	c.4913	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830236	0.32329	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60040	0.25;0.22;0.23;0.24	5.61	4.55	0.56014	.	0.266598	0.42294	D	0.000723	T	0.35038	0.0918	N	0.08118	0	0.31743	N	0.635603	B;B;B;B	0.18310	0.016;0.016;0.007;0.027	B;B;B;B	0.18263	0.015;0.009;0.0;0.021	T	0.28427	-1.0044	9	.	.	.	.	13.1584	0.59531	0.0:0.8784:0.0:0.1216	.	1638;1593;1538;1599	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	T	1599;1593;1638;1593;1538;1642	ENSP00000406043:R1599T;ENSP00000420321:R1638T;ENSP00000420637:R1593T;ENSP00000417992:R1538T	.	R	-	2	0	ROBO1	78731981	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.131000	0.31406	2.652000	0.90054	0.555000	0.69702	AGA	ROBO1	-	NULL		0.363	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78649291	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78649291	C	G	78649291	3	3	37	1	0	0	0	0	1	0	0	0	13543	913	32	1	50	1	ROBO1	3	78649291	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	45653442	78649291	119373139	24	5102										
ST3GAL6	10402	genome.wustl.edu	37	chr3	98507025	98507025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tcactgcttttaagccacatGatttaaggtggctgttggaa	10	7	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:98507025G>T	ENST00000483910.1	+	7	866	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.D193Y|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.D75Y|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	193					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TAAGCCACATGATTTAAGGTG	0.363																																																	0													95	91	92					3																	98507025		2203	4300	6503	SO:0001583	missense	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.577G>T	3.37:g.98507025G>T	ENSP00000417376:p.Asp193Tyr		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.D193Y	ENST00000483910.1	37	c.577	CCDS2933.1	3	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374232	0.61735	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.92507	3.315	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76958	-0.2766	10	0.87932	D	0	-31.9466	15.7988	0.78436	0.0:0.0:1.0:0.0	.	216;75;193	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	Y	193;75;161;193;193;161;216;107	ENSP00000417376:D193Y;ENSP00000265261:D75Y;ENSP00000417584:D161Y;ENSP00000418896:D193Y;ENSP00000377717:D193Y;ENSP00000418650:D161Y;ENSP00000417201:D216Y;ENSP00000419202:D107Y	ENSP00000265261:D75Y	D	+	1	0	ST3GAL6	99989715	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	6.473000	0.73572	2.666000	0.90696	0.557000	0.71058	GAT	ST3GAL6	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.363	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	G	NM_006100		98507025	1	no_errors	ENST00000394162	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98507025	G	T	98507025	3	4	37	1	0	0	0	0	1	0	0	0	15249	1290	45	3	599	3	ST3GAL6	3	98507025	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	19857734	98507025	99515405	25	5103										
KIAA1407	57577	genome.wustl.edu	37	chr3	113753989	113753989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctcacgtcttaagcgattttCttttaccttaaagcaaatat	4	9	3	0	rs374309452		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:113753989C>G	ENST00000295878.3	-	6	747	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E32Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	201										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAGCGATTTTCTTTTACCTTA	0.378																																																	0													65	66	66					3																	113753989		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.601G>C	3.37:g.113753989C>G	ENSP00000295878:p.Glu201Gln		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.E201Q	ENST00000295878.3	37	c.601	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203637	0.79127	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000;ENST00000483766	T;T;T	0.59906	0.61;0.23;0.31	5.35	5.35	0.76521	.	0.054054	0.64402	D	0.000001	T	0.73768	0.3629	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.71262	-0.4645	10	0.41790	T	0.15	.	19.2467	0.93905	0.0:1.0:0.0:0.0	.	188;77;201	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	Q	201;32;188;165	ENSP00000295878:E201Q;ENSP00000446381:E32Q;ENSP00000418099:E188Q	ENSP00000295878:E201Q	E	-	1	0	KIAA1407	115236679	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.411000	0.66386	2.784000	0.95788	0.585000	0.79938	GAA	KIAA1407	-	NULL		0.378	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113753989	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113753989	C	G	113753989	3	3	37	1	0	0	0	0	1	0	0	0	8249	922	32	1	2257	1	KIAA1407	3	113753989	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	15246964	113753989	84268441	26	5104										
CCDC14	64770	genome.wustl.edu	37	chr3	123680158	123680158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aggatcccgccgaatgccgcGcttcatagtctccgacgcgc	11	16	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:123680158G>A	ENST00000488653.2	-	1	97	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	CCDC14_ENST00000433542.2_Missense_Mutation_p.R3C|CCDC14_ENST00000489746.1_5'Flank|CCDC14_ENST00000483247.1_5'Flank			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	3					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CGAATGCCGCGCTTCATAGTC	0.637																																																	0													9	14	12					3																	123680158		689	1591	2280	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.7C>T	3.37:g.123680158G>A	ENSP00000420180:p.Arg3Cys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.R3C	ENST00000488653.2	37	c.7		3	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824978	0.50739	.	.	ENSG00000175455	ENST00000488653;ENST00000433542	T;T	0.58797	0.38;0.31	3.31	3.31	0.37934	.	.	.	.	.	T	0.52008	0.1708	N	0.14661	0.345	0.43745	D	0.99624	D;D	0.89917	1.0;1.0	P;P	0.60286	0.872;0.872	T	0.46693	-0.9173	8	.	.	.	.	10.3108	0.43708	0.0:0.0:1.0:0.0	.	3;3	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	3	ENSP00000420180:R3C;ENSP00000395706:R3C	.	R	-	1	0	CCDC14	125162848	0.160000	0.22878	0.170000	0.22879	0.157000	0.22087	1.628000	0.37060	1.837000	0.53436	0.655000	0.94253	CGC	CCDC14	-	NULL		0.637	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		G	NM_022757		123680158	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.143	A	A	123680158	G	A	123680158	3	1	37	1	0	0	0	0	1	0	0	0	2778	1087	38	2	2779	2	CCDC14	3	123680158	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	9926169	123680158	74342272	27	5105										
ROPN1B	152015	genome.wustl.edu	37	chr3	125694413	125694413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttttttcttgtagttattttGaggccctgtcccgtggagag	11	7	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:125694413G>A	ENST00000514116.1	+	4	439	c.124G>A	c.(124-126)Gag>Aag	p.E42K	ROPN1B_ENST00000251776.4_Missense_Mutation_p.E42K|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'Flank			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	42	RIIa.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TAGTTATTTTGAGGCCCTGTC	0.517																																																	0													59	59	59					3																	125694413		2203	4296	6499	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.124G>A	3.37:g.125694413G>A	ENSP00000426271:p.Glu42Lys		D3DNA6|Q96BM7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E42K	ENST00000514116.1	37	c.124	CCDS33841.1	3	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261464	0.10239	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.79247	2.02;2.02;-1.25;-1.25	2.76	2.76	0.32466	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.261461	0.33199	N	0.005173	T	0.53334	0.1790	N	0.08118	0	0.80722	D	1	B;B	0.26935	0.164;0.135	B;B	0.29077	0.098;0.037	T	0.47289	-0.9129	10	0.07644	T	0.81	-40.3675	9.6022	0.39612	0.0:0.0:1.0:0.0	.	42;42	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	K	42	ENSP00000426271:E42K;ENSP00000251776:E42K;ENSP00000425548:E42K;ENSP00000423058:E42K	ENSP00000251776:E42K	E	+	1	0	ROPN1B	127177103	1.000000	0.71417	0.996000	0.52242	0.444000	0.32077	3.651000	0.54431	1.472000	0.48140	0.289000	0.19496	GAG	ROPN1B	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b		0.517	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	G	NM_001012337		125694413	1	no_errors	ENST00000251776	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125694413	G	A	125694413	3	1	37	1	0	0	0	0	1	0	0	0	13554	1291	45	1	130	1	ROPN1B	3	125694413	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	2014255	125694413	72328017	28	5106										
UROC1	131669	genome.wustl.edu	37	chr3	126202258	126202258	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tcagcctggctctcccctcgGcctccggggtaccgtccagc	11	19	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:126202258G>C	ENST00000290868.2	-	19	1897	c.1844C>G	c.(1843-1845)gCc>gGc	p.A615G	UROC1_ENST00000383579.3_Missense_Mutation_p.A675G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	615					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCTCCCCTCGGCCTCCGGGGT	0.622																																																	0													67	61	63					3																	126202258		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1844C>G	3.37:g.126202258G>C	ENSP00000290868:p.Ala615Gly		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.A615G	ENST00000290868.2	37	c.1844	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	g	17.60	3.428761	0.62844	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.53857	0.6;0.6	5.4	5.4	0.78164	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.93898	3.47	0.80722	D	1	D;B	0.56521	0.976;0.304	D;P	0.67231	0.95;0.482	D	0.84786	0.0776	10	0.87932	D	0	-16.6068	16.6956	0.85334	0.0:0.0:1.0:0.0	.	675;615	E9PE13;Q96N76	.;HUTU_HUMAN	G	615;675	ENSP00000290868:A615G;ENSP00000373073:A675G	ENSP00000290868:A615G	A	-	2	0	UROC1	127684948	1.000000	0.71417	0.972000	0.41901	0.031000	0.12232	7.095000	0.76952	2.545000	0.85829	0.479000	0.44913	GCC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.622	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	G	NM_144639		126202258	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	0.999	C	C	126202258	G	C	126202258	3	2	37	1	0	0	0	0	1	0	0	0	17059	1203	42	4	194	4	UROC1	3	126202258	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	507845	126202258	71820172	29	5107										
ZBTB38	253461	genome.wustl.edu	37	chr3	141161572	141161572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcagctgcaggaaaaaagctGggaatatcgttcttggaaga	13	6	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:141161572G>A	ENST00000514251.1	+	4	621	c.342G>A	c.(340-342)ctG>ctA	p.L114L	ZBTB38_ENST00000441582.2_Silent_p.L114L|ZBTB38_ENST00000321464.5_Silent_p.L115L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAAAAAAGCTGGGAATATCGT	0.408																																																	0													62	59	60					3																	141161572		1888	4124	6012	SO:0001819	synonymous_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.342G>A	3.37:g.141161572G>A				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L115	ENST00000514251.1	37	c.345	CCDS43157.1	3																																																																																			ZBTB38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.408	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141161572	1	no_errors	ENST00000321464	ensembl	human	known	70_37	silent	SNP	1.000	A	A	141161572	G	A	141161572	2	1	37	1	0	0	0	0	0	0	0	1	17569	1335	47	4		4	ZBTB38	3	141161572	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	14959314	141161572	56860858	30	5108										
KIAA0232	9778	genome.wustl.edu	37	chr4	6860223	6860223	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tatcccctccagcaaaggatCaagtggaaatgtatgtaaga	9	8	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:6860223C>G	ENST00000307659.5	+	6	963	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Q170E	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	170							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGCAAAGGATCAAGTGGAAAT	0.358																																																	0													45	43	44					4																	6860223		1831	4081	5912	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.508C>G	4.37:g.6860223C>G	ENSP00000303928:p.Gln170Glu		A7E2D2	Missense_Mutation	SNP	NULL	p.Q170E	ENST00000307659.5	37	c.508	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568577	0.86439	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.44542	1.39	0.58432	D	0.999998	D	0.61697	0.99	D	0.72982	0.979	T	0.76024	-0.3110	9	0.72032	D	0.01	-11.3209	19.5353	0.95251	0.0:1.0:0.0:0.0	.	170	Q92628	K0232_HUMAN	E	170	.	ENSP00000303928:Q170E	Q	+	1	0	KIAA0232	6911124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.791000	0.75120	2.618000	0.88619	0.650000	0.86243	CAA	KIAA0232	-	NULL		0.358	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	C	NM_014743		6860223	1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6860223	C	G	6860223	3	3	37	1	0	0	0	0	1	0	0	0	8183	827	29	1	522	1	KIAA0232	4	6860223	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		6860223	184294053	31	5109										
NIPAL1	152519	genome.wustl.edu	37	chr4	48037979	48037979	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ggagatatcattgggaccctGagtggattcttcactattat	10	7	3	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:48037979G>T	ENST00000295461.5	+	6	1089	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398																																																	0													167	152	157					4																	48037979		2203	4300	6503	SO:0001819	synonymous_variant	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1023G>T	4.37:g.48037979G>T			B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.L341	ENST00000295461.5	37	c.1023	CCDS3479.1	4																																																																																			NIPAL1	-	pfam_Mg_trans_NIPA		0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	G	NM_207330		48037979	1	no_errors	ENST00000295461	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48037979	G	T	48037979	2	4	37	1	0	0	0	0	0	0	0	1	10448	1277	45	3		3	NIPAL1	4	48037979	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	41177756	48037979	143116297	32	5110										
TXK	7294	genome.wustl.edu	37	chr4	48069682	48069682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tttccgcaatctctgtgacaGcccgcagcagctcggcaaat	9	14	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:48069682G>C	ENST00000264316.4	-	15	1641	c.1556C>G	c.(1555-1557)gCt>gGt	p.A519G	TXK_ENST00000507351.1_Missense_Mutation_p.A174G	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTCTGTGACAGCCCGCAGCAG	0.488																																																	0													112	117	115					4																	48069682		2203	4300	6503	SO:0001583	missense	7294			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1556C>G	4.37:g.48069682G>C	ENSP00000264316:p.Ala519Gly		Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A519G	ENST00000264316.4	37	c.1556	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154995	0.06544	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	T;T	0.62788	-0.0;-0.0	4.95	-3.45	0.04781	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.881962	0.09813	N	0.752510	T	0.45875	0.1364	L	0.46614	1.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.33548	-0.9864	10	0.33940	T	0.23	.	2.919	0.05762	0.3271:0.13:0.4153:0.1277	.	206;519	B4DTB5;P42681	.;TXK_HUMAN	G	519;174	ENSP00000264316:A519G;ENSP00000423481:A174G	ENSP00000264316:A519G	A	-	2	0	TXK	47764439	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.006000	0.12833	-0.424000	0.07382	0.561000	0.74099	GCT	TXK	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.488	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	G	NM_003328		48069682	-1	no_errors	ENST00000264316	ensembl	human	known	70_37	missense	SNP	0.000	C	C	48069682	G	C	48069682	3	2	37	1	0	0	0	0	1	0	0	0	16817	971	34	4	31	4	TXK	4	48069682	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	31703	48069682	143084594	33	5111										
LPHN3	23284	genome.wustl.edu	37	chr4	62800635	62800635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gacctgactacgagtgatcaGctgcgtgcggccaccatgtt	12	12	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:62800635G>T	ENST00000514591.1	+	13	2315	c.1986G>T	c.(1984-1986)caG>caT	p.Q662H	LPHN3_ENST00000509896.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000512091.2_Missense_Mutation_p.Q662H|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000508078.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	649					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGAGTGATCAGCTGCGTGCGG	0.468																																																	0													94	100	98					4																	62800635		2090	4216	6306	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1986G>T	4.37:g.62800635G>T	ENSP00000422533:p.Gln662His		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Q730H	ENST00000514591.1	37	c.2190	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.661742|1.661742	0.29515|0.29515	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.11930	.|2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.43|5.43	-2.28|-2.28	0.06826|0.06826	.|Domain of unknown function DUF3497 (1);	.|0.113162	.|0.64402	.|D	.|0.000009	T|T	0.24624|0.24624	0.0597|0.0597	M|M	0.71206|0.71206	2.165|2.165	0.44188|0.44188	D|D	0.997004|0.997004	.|P;P;P	.|0.50369	.|0.934;0.934;0.919	.|P;P;P	.|0.53593	.|0.73;0.73;0.61	T|T	0.15521|0.15521	-1.0434|-1.0434	5|10	.|0.87932	.|D	.|0	.|.	13.3906|13.3906	0.60823|0.60823	0.4464:0.0:0.5536:0.0|0.4464:0.0:0.5536:0.0	.|.	.|662;649;662	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	S|H	120|662;662;730;730;662;649;662;649;662;730;730;730;662;662;662;730;730;662	.|ENSP00000423388:Q662H;ENSP00000422533:Q662H;ENSP00000423787:Q730H;ENSP00000425033:Q730H;ENSP00000424120:Q662H;ENSP00000439831:Q662H;ENSP00000421476:Q730H;ENSP00000424030:Q730H;ENSP00000421372:Q730H;ENSP00000425201:Q662H;ENSP00000423434:Q662H;ENSP00000421627:Q662H;ENSP00000420931:Q730H;ENSP00000425884:Q730H;ENSP00000424258:Q662H	.|ENSP00000280009:Q662H	A|Q	+|+	1|3	0|2	LPHN3|LPHN3	62483230|62483230	0.991000|0.991000	0.36638|0.36638	0.959000|0.959000	0.39883|0.39883	0.025000|0.025000	0.11179|0.11179	0.382000|0.382000	0.20635|0.20635	-0.270000|-0.270000	0.09285|0.09285	-0.806000|-0.806000	0.03193|0.03193	GCT|CAG	LPHN3	-	pfam_DUF3497		0.468	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62800635	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	0.997	T	T	62800635	G	T	62800635	3	4	37	1	0	0	0	0	1	0	0	0	8940	962	34	4	2028	4	LPHN3	4	62800635	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	14730953	62800635	128353641	34	5112										
RGNEF	64283	genome.wustl.edu	37	chr5	73236769	73236769	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gaagcaaagctaaatctaccGacaaggacaatgaccagaca	8	10	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:73236769G>A	ENST00000426542.2	+	35	5069	c.5049G>A	c.(5047-5049)ccG>ccA	p.P1683P	ARHGEF28_ENST00000512883.1_Silent_p.P629P|ARHGEF28_ENST00000513042.2_Silent_p.P1683P|ARHGEF28_ENST00000545377.1_Silent_p.P1709P|ARHGEF28_ENST00000287898.5_Silent_p.P1665P|ARHGEF28_ENST00000437974.1_Silent_p.P1709P|ARHGEF28_ENST00000296799.4_Silent_p.P1370P			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1683	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TAAATCTACCGACAAGGACAA	0.433																																																	0																																										SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.5049G>A	5.37:g.73236769G>A			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P1709	ENST00000426542.2	37	c.5127	CCDS54870.1	5																																																																																			ARHGEF28	-	NULL		0.433	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	G			73236769	1	no_errors	ENST00000545377	ensembl	human	known	70_37	silent	SNP	0.000	A	A	73236769	G	A	73236769	2	1	37	1	0	0	0	0	0	0	0	1	13313	1045	37	1		1	RGNEF	5	73236769	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		73236769	107678491	35	5113										
BRD8	10902	genome.wustl.edu	37	chr5	137486436	137486436	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tttaagttactttcttacctCttcactctctgtgagtagtc	5	10	4	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:137486436C>G	ENST00000254900.5	-	22	3489	c.3118G>C	c.(3118-3120)Gag>Cag	p.E1040Q		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1040					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTTACCTCTTCACTCTCT	0.443																																																	0													150	165	160					5																	137486436		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3118G>C	5.37:g.137486436C>G	ENSP00000254900:p.Glu1040Gln		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E1040Q	ENST00000254900.5	37	c.3118	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473532	0.43942	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.32988	1.74;1.43	4.29	4.29	0.51040	.	0.000000	0.41500	D	0.000879	T	0.35508	0.0934	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	D	0.68039	0.955	T	0.24154	-1.0168	10	0.48119	T	0.1	.	13.5682	0.61830	0.0:1.0:0.0:0.0	.	1040	Q9H0E9	BRD8_HUMAN	Q	1040;146	ENSP00000254900:E1040Q;ENSP00000392646:E146Q	ENSP00000254900:E1040Q	E	-	1	0	BRD8	137514335	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	1.421000	0.34815	2.207000	0.71202	0.561000	0.74099	GAG	BRD8	-	NULL		0.443	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	C	NM_006696		137486436	-1	no_errors	ENST00000254900	ensembl	human	known	70_37	missense	SNP	1.000	G	G	137486436	C	G	137486436	3	3	37	1	0	0	0	0	1	0	0	0	1509	922	32	1	613	1	BRD8	5	137486436	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	64249667	137486436	43428824	36	5114										
PCDHB16	57717	genome.wustl.edu	37	chr5	140562422	140562422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctagatcgagaggagctatgCggtcccactgagccttgcat	12	11	0	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:140562422C>T	ENST00000361016.2	+	1	1443	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCTATGCGGTCCCACTG	0.438																																																	0													57	59	58					5																	140562422		2203	4300	6503	SO:0001819	synonymous_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.288C>T	5.37:g.140562422C>T			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C96	ENST00000361016.2	37	c.288	CCDS4251.1	5																																																																																			PCDHB16	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.438	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	C	NM_020957		140562422	1	no_errors	ENST00000361016	ensembl	human	known	70_37	silent	SNP	0.212	T	T	140562422	C	T	140562422	2	4	37	1	0	0	0	0	0	0	0	1	11565	776	27	2		2	PCDHB16	5	140562422	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	3075986	140562422	40352838	37	5115										
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801036	140801036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcttttcgctgtgaatccgcGaagcggcagcttgatcacgg	13	11	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:140801036G>A	ENST00000398587.2	+	1	275	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R81Q|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATCCGCGAAGCGGCAGC	0.577																																																	0													41	50	47					5																	140801036		2157	4288	6445	SO:0001583	missense	56105			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.242G>A	5.37:g.140801036G>A	ENSP00000381589:p.Arg81Gln		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R81Q	ENST00000398587.2	37	c.242	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	g	11.57	1.678652	0.29783	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.26810	1.71;1.71	5.93	4.12	0.48240	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.28901	U	0.013773	T	0.18593	0.0446	L	0.41710	1.295	0.09310	N	0.999999	P;P;P	0.45902	0.525;0.868;0.812	B;B;B	0.40864	0.124;0.329;0.342	T	0.13764	-1.0497	10	0.44086	T	0.13	.	4.8548	0.13554	0.2479:0.2986:0.4535:0.0	.	81;81;81	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	Q	81	ENSP00000381589:R81Q;ENSP00000428333:R81Q	ENSP00000381589:R81Q	R	+	2	0	PCDHGA11	140781220	0.000000	0.05858	1.000000	0.80357	0.736000	0.42039	0.075000	0.14686	0.807000	0.34208	0.591000	0.81541	CGA	PCDHGA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.577	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	G	NM_018914		140801036	1	no_errors	ENST00000398587	ensembl	human	known	70_37	missense	SNP	0.391	A	A	140801036	G	A	140801036	3	1	37	1	0	0	0	0	1	0	0	0	11576	1058	37	1	244	1	PCDHGA11	5	140801036	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	238614	140801036	40114224	38	5116										
SLC36A2	153201	genome.wustl.edu	37	chr5	150696640	150696640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ccaggcgggggatgaggatgGccaggaggcctgcagggaga	21	8	0	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:150696640G>A	ENST00000335244.4	-	10	1319	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A121V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	397					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GATGAGGATGGCCAGGAGGCC	0.602																																																	0													41	40	40					5																	150696640		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1190C>T	5.37:g.150696640G>A	ENSP00000334223:p.Ala397Val		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A397V	ENST00000335244.4	37	c.1190	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999461	0.74818	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.05996	3.36;3.36	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	H	0.95539	3.685	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.56902	-0.7902	10	0.87932	D	0	-35.5306	18.3905	0.90481	0.0:0.0:1.0:0.0	.	397	Q495M3	S36A2_HUMAN	V	397;121	ENSP00000334223:A397V;ENSP00000399479:A121V	ENSP00000334223:A397V	A	-	2	0	SLC36A2	150676833	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	6.103000	0.71492	2.643000	0.89663	0.557000	0.71058	GCC	SLC36A2	-	pfam_AA_transpt_TM		0.602	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	G			150696640	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150696640	G	A	150696640	3	1	37	1	0	0	0	0	1	0	0	0	14624	1203	42	4	265	4	SLC36A2	5	150696640	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	9895604	150696640	30218620	39	5117										
FAM114A2	10827	genome.wustl.edu	37	chr5	153414396	153414396	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tacaggttctgatttactctCtggtttggcaccttggtcaa	9	9	3	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:153414396C>T	ENST00000351797.4	-	2	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	FAM114A2_ENST00000520313.1_Intron|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E40K|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E40K	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	40							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GATTTACTCTCTGGTTTGGCA	0.463																																																	0													185	191	189					5																	153414396		2203	4300	6503	SO:0001583	missense	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.118G>A	5.37:g.153414396C>T	ENSP00000341597:p.Glu40Lys		B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.E40K	ENST00000351797.4	37	c.118	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341080	0.60963	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000522395;ENST00000523705;ENST00000519808;ENST00000518102;ENST00000522634;ENST00000517605	T;T;T;T;T;T	0.48836	2.38;2.38;2.38;1.38;1.4;0.8	6.16	5.28	0.74379	.	0.840021	0.11017	N	0.608850	T	0.42268	0.1195	L	0.32530	0.975	0.80722	D	1	P	0.46395	0.877	B	0.40165	0.321	T	0.34950	-0.9808	10	0.54805	T	0.06	-0.0959	15.8374	0.78808	0.0:0.8652:0.1348:0.0	.	40	Q9NRY5	F1142_HUMAN	K	40	ENSP00000341597:E40K;ENSP00000430489:E40K;ENSP00000430384:E40K;ENSP00000430186:E40K;ENSP00000428827:E40K;ENSP00000429753:E40K	ENSP00000341597:E40K	E	-	1	0	FAM114A2	153394589	0.022000	0.18835	0.562000	0.28370	0.992000	0.81027	1.717000	0.37991	1.574000	0.49760	0.650000	0.86243	GAG	FAM114A2	-	NULL		0.463	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	C	NM_018691		153414396	-1	no_errors	ENST00000351797	ensembl	human	known	70_37	missense	SNP	0.467	T	T	153414396	C	T	153414396	3	4	37	1	0	0	0	0	1	0	0	0	5419	922	32	1	1451	1	FAM114A2	5	153414396	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	2717756	153414396	27500864	40	5118										
FGF18	8817	genome.wustl.edu	37	chr5	170883576	170883576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcaaggagtgtgtgttcatcGagaaggttctggagaacaac	14	6	2	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:170883576G>A	ENST00000274625.5	+	5	935	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	131					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTGTTCATCGAGAAGGTTCT	0.567																																																	0													87	84	85					5																	170883576		2203	4300	6503	SO:0001583	missense	8817			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.391G>A	5.37:g.170883576G>A	ENSP00000274625:p.Glu131Lys		D3DQL7|Q6UWF1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.E131K	ENST00000274625.5	37	c.391	CCDS4378.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953716	0.92660	.	.	ENSG00000156427	ENST00000274625	D	0.89050	-2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96741	0.8936	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98202	1.0468	10	0.87932	D	0	-7.2626	18.4784	0.90802	0.0:0.0:1.0:0.0	.	131	O76093	FGF18_HUMAN	K	131	ENSP00000274625:E131K	ENSP00000274625:E131K	E	+	1	0	FGF18	170816181	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	9.476000	0.97823	2.468000	0.83385	0.655000	0.94253	GAG	FGF18	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF		0.567	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	G	NM_033649, NM_003862		170883576	1	no_errors	ENST00000274625	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170883576	G	A	170883576	3	1	37	1	0	0	0	0	1	0	0	0	5864	1059	37	1	409	1	FGF18	5	170883576	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	17469180	170883576	10031684	41	5119										
STC2	8614	genome.wustl.edu	37	chr5	172745253	172745253	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tcacgaggtccacgtagggtCtaaagattgaaagcaaagag	12	7	2	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:172745253C>A	ENST00000265087.4	-	4	1816		c.e4-1		STC2_ENST00000520593.1_Splice_Site	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2						cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACGTAGGGTCTAAAGATTGA	0.562																																																	0													29	25	26					5																	172745253		2203	4300	6503	SO:0001630	splice_region_variant	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.507-1G>T	5.37:g.172745253C>A				Splice_Site	SNP	-	e4-1	ENST00000265087.4	37	c.507-1	CCDS4388.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361692	0.82353	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.196	0.93689	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STC2	172677859	1.000000	0.71417	0.834000	0.33040	0.969000	0.65631	7.487000	0.81328	2.531000	0.85337	0.650000	0.86243	.	STC2	-	-		0.562	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	HGNC	protein_coding	OTTHUMT00000252965.1	C	NM_003714	Intron	172745253	-1	no_errors	ENST00000265087	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	172745253	C	A	172745253	5	1	37	1	0	0	0	0	0	0	1	0	15306	927	32	3	406	3	STC2	5	172745253	Splice_Site	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	1861677	172745253	8170007	42	5120										
DDX41	51428	genome.wustl.edu	37	chr5	176939169	176939169	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cggcaccttctgcttggcttCtagcagcagcgctttgaggt	12	12	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:176939169C>T	ENST00000507955.1	-	16	2183	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	554	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCTTGGCTTCTAGCAGCAGC	0.627																																																	0													71	68	69					5																	176939169		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1660G>A	5.37:g.176939169C>T	ENSP00000422753:p.Glu554Lys		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E554K	ENST00000507955.1	37	c.1660	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.701529	0.96812	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.92446	-3.04;-3.04	5.88	5.88	0.94601	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94196	0.7445	10	0.87932	D	0	-27.9304	20.2089	0.98286	0.0:1.0:0.0:0.0	.	554	Q9UJV9	DDX41_HUMAN	K	572;554	ENSP00000330349:E572K;ENSP00000422753:E554K	ENSP00000330349:E572K	E	-	1	0	DDX41	176871775	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.637000	0.83313	2.779000	0.95612	0.650000	0.86243	GAA	DDX41	-	pfscan_Helicase_C		0.627	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176939169	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176939169	C	T	176939169	3	4	37	1	0	0	0	0	1	0	0	0	4366	922	32	1	216	1	DDX41	5	176939169	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	4193916	176939169	3976091	43	5121										
TFAP2A	7020	genome.wustl.edu	37	chr6	10404781	10404781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cagcgacgcgttgagacactCgggtggtgagagccgccgct	16	12	0	2	rs151344526		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:10404781C>T	ENST00000482890.1	-	5	1076	c.724G>A	c.(724-726)Gag>Aag	p.E242K	TFAP2A_ENST00000379604.2_Missense_Mutation_p.E242K|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E238K|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E236K|TFAP2A_ENST00000379613.3_Missense_Mutation_p.E244K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	242					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTGAGACACTCGGGTGGTGAG	0.706																																																	0													26	23	24					6																	10404781		2203	4300	6503	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.724G>A	6.37:g.10404781C>T	ENSP00000418541:p.Glu242Lys		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.E242K	ENST00000482890.1	37	c.724	CCDS4510.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.881949|5.881949	0.97062|0.97062	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450|ENST00000461628	D;D;D;D;D;D;D|.	0.98876|.	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2;-5.2|.	5.17|5.17	4.31|4.31	0.51392|0.51392	Transcription factor AP-2, C-terminal (1);|.	0.108699|.	0.64402|.	D|.	0.000004|.	T|T	0.77191|0.77191	0.4094|0.4094	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	A|A	1|1	D;D;D;D;D|.	0.71674|.	0.998;0.998;0.979;0.979;0.973|.	P;D;P;P;P|.	0.80764|.	0.728;0.994;0.508;0.508;0.608|.	D|D	0.84437|0.84437	0.0580|0.0580	9|4	0.87932|.	D|.	0|.	-11.7105|-11.7105	13.6117|13.6117	0.62083|0.62083	0.0:0.9241:0.0:0.0759|0.0:0.9241:0.0:0.0759	.|.	242;244;238;242;236|.	C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;AP2A_HUMAN;.|.	K|Q	244;242;238;236;242;242;99|16	ENSP00000368933:E244K;ENSP00000368924:E242K;ENSP00000316516:E238K;ENSP00000368928:E236K;ENSP00000418541:E242K;ENSP00000417495:E242K;ENSP00000419961:E99K|.	ENSP00000316516:E238K|.	E|R	-|-	1|2	0|0	TFAP2A|TFAP2A	10512767|10512767	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.496000|7.496000	0.81526|0.81526	1.308000|1.308000	0.44962|0.44962	0.655000|0.655000	0.94253|0.94253	GAG|CGA	TFAP2A	-	pfam_TF_AP2_C		0.706	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	C	NM_003220		10404781	-1	no_errors	ENST00000379604	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10404781	C	T	10404781	3	4	37	1	0	0	0	0	1	0	0	0	15817	893	31	1	605	1	TFAP2A	6	10404781	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		10404781	160710286	44	5122										
HLA-A	3105	genome.wustl.edu	37	chr6	29911302	29911302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gatacctggagaacgggaagGagacgctgcagcgcacgggt	17	9	0	2	rs41546018		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:29911302G>T	ENST00000396634.1	+	5	942	c.601G>T	c.(601-603)Gag>Tag	p.E201*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E201*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	201	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAACGGGAAGGAGACGCTGCA	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.601G>T	6.37:g.29911302G>T	ENSP00000379873:p.Glu201*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E201*	ENST00000396634.1	37	c.601	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	37	6.618998	0.97709	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.54	3.54	0.40534	.	1.724340	0.04698	U	0.415309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.0189	0.58775	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000365998:E201X	E	+	1	0	HLA-A	30019281	0.951000	0.32395	0.529000	0.27951	0.371000	0.29859	1.475000	0.35409	1.987000	0.57996	0.485000	0.47835	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29911302	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.975	T	T	29911302	G	T	29911302	4	4	37	1	0	0	0	0	0	1	0	0	7215	1175	41	3	611	3	HLA-A	6	29911302	Nonsense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	19506521	29911302	141203765	45	5123										
TNXB	7148	genome.wustl.edu	37	chr6	32035601	32035601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ccgtccctgtccttgtactgCacggtgaaggagtcgaagcg	13	12	0	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:32035601C>T	ENST00000375244.3	-	18	6582	c.6381G>A	c.(6379-6381)gtG>gtA	p.V2127V	TNXB_ENST00000375247.2_Silent_p.V2127V			P22105	TENX_HUMAN	tenascin XB	2199	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGTACTGCACGGTGAAGG	0.667																																																	0													36	40	39					6																	32035601		1879	4082	5961	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6381G>A	6.37:g.32035601C>T			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V2127	ENST00000375244.3	37	c.6381		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	C	NM_019105		32035601	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	silent	SNP	0.976	T	T	32035601	C	T	32035601	2	4	37	1	0	0	0	0	0	0	0	1	16376	697	25	4		4	TNXB	6	32035601	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	2124299	32035601	139079466	46	5124										
PEX6	5190	genome.wustl.edu	37	chr6	42942701	42942701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cacaatttcgatgtgtaactCtctggcaaatggaggcccag	10	10	1	0	rs371018106		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:42942701C>G	ENST00000304611.8	-	2	1027	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	PEX6_ENST00000244546.4_Missense_Mutation_p.E320Q	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	320					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ATGTGTAACTCTCTGGCAAAT	0.473																																																	0													188	179	182					6																	42942701		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.958G>C	6.37:g.42942701C>G	ENSP00000303511:p.Glu320Gln		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E320Q	ENST00000304611.8	37	c.958	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976258	0.92982	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.79352	-1.26;-1.26	5.99	5.99	0.97316	.	0.048627	0.85682	D	0.000000	T	0.68604	0.3019	M	0.63843	1.955	0.52099	D	0.999948	P	0.36733	0.567	B	0.33196	0.159	T	0.74390	-0.3681	10	0.66056	D	0.02	-30.1108	17.3945	0.87441	0.0:1.0:0.0:0.0	.	320	Q13608	PEX6_HUMAN	Q	320	ENSP00000303511:E320Q;ENSP00000244546:E320Q	ENSP00000244546:E320Q	E	-	1	0	PEX6	43050679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.840000	0.97914	0.655000	0.94253	GAG	PEX6	-	NULL		0.473	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	C	NM_000287		42942701	-1	no_errors	ENST00000304611	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42942701	C	G	42942701	3	3	37	1	0	0	0	0	1	0	0	0	11774	922	32	1	2048	1	PEX6	6	42942701	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	10907100	42942701	128172366	47	5125										
KIAA1244	57221	genome.wustl.edu	37	chr6	138613167	138613167	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	agcgcggccaaggtggtgctCaccctctccacgcaagccga	12	16	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:138613167C>T	ENST00000251691.4	+	19	3511	c.3345C>T	c.(3343-3345)ctC>ctT	p.L1115L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGTGGTGCTCACCCTCTCCA	0.701																																																	0													4	5	5					6																	138613167		2025	4083	6108	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3345C>T	6.37:g.138613167C>T				Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.L1115	ENST00000251691.4	37	c.3345	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold		0.701	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138613167	1	no_errors	ENST00000251691	ensembl	human	known	70_37	silent	SNP	1.000	T	T	138613167	C	T	138613167	2	4	37	1	0	0	0	0	0	0	0	1	8237	813	29	1		1	KIAA1244	6	138613167	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	95670466	138613167	32501900	48	5126										
GRM1	2911	genome.wustl.edu	37	chr6	146755015	146755015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	attttattcatagttctaatGgcaagtctgtgtcatggtct	8	6	5	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:146755015G>T	ENST00000282753.1	+	8	2903	c.2668G>T	c.(2668-2670)Ggc>Tgc	p.G890C	GRM1_ENST00000361719.2_Missense_Mutation_p.G890C|GRM1_ENST00000355289.4_Intron|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_Intron|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	890					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TAGTTCTAATGGCAAGTCTGT	0.448																																																	0													51	49	49					6																	146755015		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2668G>T	6.37:g.146755015G>T	ENSP00000282753:p.Gly890Cys		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.G890C	ENST00000282753.1	37	c.2668	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323741	0.81580	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.52754	0.65;0.65	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70081	-0.4970	10	0.87932	D	0	.	19.1666	0.93560	0.0:0.0:1.0:0.0	.	890	Q13255	GRM1_HUMAN	C	890	ENSP00000354896:G890C;ENSP00000282753:G890C	ENSP00000282753:G890C	G	+	1	0	GRM1	146796708	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.471000	0.97696	2.513000	0.84729	0.455000	0.32223	GGC	GRM1	-	NULL		0.448	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	G	NM_000838		146755015	1	no_errors	ENST00000282753	ensembl	human	known	70_37	missense	SNP	1.000	T	T	146755015	G	T	146755015	3	4	37	1	0	0	0	0	1	0	0	0	6816	1348	47	4	2763	4	GRM1	6	146755015	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	8141848	146755015	24360052	49	5127										
NPC1L1	29881	genome.wustl.edu	37	chr7	44575553	44575553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gctgtggtgcgattgatctcGtcttccagagagcgctgtgg	15	9	2	2	rs149711685		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:44575553G>A	ENST00000289547.4	-	5	1924	c.1869C>T	c.(1867-1869)gaC>gaT	p.D623D	NPC1L1_ENST00000423141.1_Silent_p.D623D|NPC1L1_ENST00000381160.3_Silent_p.D623D|NPC1L1_ENST00000546276.1_Silent_p.D623D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	623					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GATTGATCTCGTCTTCCAGAG	0.567																																																	0								G	,	1,4405		0,1,2202	116	98	104		1869,1869	-5.4	0.9	7	dbSNP_134	104	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	623/1333,623/1360	44575553	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1869C>T	7.37:g.44575553G>A			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.D623	ENST00000289547.4	37	c.1869	CCDS5491.1	7																																																																																			NPC1L1	-	pfam_Patched		0.567	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44575553	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	silent	SNP	0.978	A	A	44575553	G	A	44575553	2	1	37	1	0	0	0	0	0	0	0	1	10595	1136	40	2		2	NPC1L1	7	44575553	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		44575553	114563110	50	5128										
SGCE	8910	genome.wustl.edu	37	chr7	94257516	94257516	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tttctaggtgtaaattacctCaatgattgttggcttcccca	7	9	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:94257516C>G	ENST00000265735.7	-	3	498	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SGCE_ENST00000437425.2_Missense_Mutation_p.E89Q|SGCE_ENST00000447873.1_Missense_Mutation_p.E130Q|SGCE_ENST00000415788.2_Missense_Mutation_p.E166Q|SGCE_ENST00000445866.2_Missense_Mutation_p.E130Q|SGCE_ENST00000428696.2_Missense_Mutation_p.E130Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	130					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAAATTACCTCAATGATTGTT	0.398																																																	0													75	64	68					7																	94257516		2203	4299	6502	SO:0001583	missense	8910			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.388G>C	7.37:g.94257516C>G	ENSP00000265735:p.Glu130Gln		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.E130Q	ENST00000265735.7	37	c.388	CCDS5637.1	7	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761905	0.89932	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	5.5	5.5	0.81552	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.70595	2.14	0.80722	D	1	P;B;D;D;P	0.59357	0.906;0.43;0.977;0.985;0.659	P;B;D;D;B	0.67900	0.801;0.212;0.954;0.943;0.372	D	0.99848	1.1068	10	0.72032	D	0.01	-20.1314	19.7702	0.96361	0.0:1.0:0.0:0.0	.	166;89;130;130;130	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	Q	130;130;89;130;130;166	ENSP00000265735:E130Q;ENSP00000398930:E130Q;ENSP00000394061:E89Q;ENSP00000388734:E130Q;ENSP00000397536:E130Q;ENSP00000405313:E166Q	ENSP00000265735:E130Q	E	-	1	0	SGCE	94095452	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	GAG	SGCE	-	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg		0.398	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCE	HGNC	protein_coding	OTTHUMT00000255251.2	C			94257516	-1	no_errors	ENST00000445866	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94257516	C	G	94257516	3	3	37	1	0	0	0	0	1	0	0	0	14232	835	29	1	1113	1	SGCE	7	94257516	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	49681963	94257516	64881147	51	5129										
PNPLA8	50640	genome.wustl.edu	37	chr7	108154978	108154978	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctcttcctgttcttctgactGactctttgaatcatacttta	4	11	5	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:108154978G>A	ENST00000422087.1	-	4	1364	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	PNPLA8_ENST00000388728.5_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000426128.2_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000436062.1_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Nonsense_Mutation_p.Q220*|PNPLA8_ENST00000257694.8_Nonsense_Mutation_p.Q320*	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	320					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTTCTGACTGACTCTTTGAA	0.423																																																	0													111	111	111					7																	108154978		2203	4300	6503	SO:0001587	stop_gained	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.958C>T	7.37:g.108154978G>A	ENSP00000410804:p.Gln320*		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Nonsense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.Q320*	ENST00000422087.1	37	c.958	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.162111	0.97338	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	.	.	.	4.5	3.59	0.41128	.	0.859098	0.10445	N	0.673760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.5597	0.45138	0.0:0.0:0.5325:0.4675	.	.	.	.	X	320;320;320;320;220;320;220	.	ENSP00000257694:Q320X	Q	-	1	0	PNPLA8	107942214	0.846000	0.29590	0.749000	0.31150	0.673000	0.39480	1.898000	0.39809	1.206000	0.43276	0.591000	0.81541	CAG	PNPLA8	-	NULL		0.423	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	G	NM_015723		108154978	-1	no_errors	ENST00000257694	ensembl	human	known	70_37	nonsense	SNP	0.366	A	A	108154978	G	A	108154978	4	1	37	1	0	0	0	0	0	1	0	0	12195	1299	45	1	1426	1	PNPLA8	7	108154978	Nonsense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	13897462	108154978	50983685	52	5130										
SLC13A1	6561	genome.wustl.edu	37	chr7	122774466	122774466	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	catgaaatatttacttacttGaatcctaggaaaagccactg	6	8	0	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:122774466G>A	ENST00000194130.2	-	8	969	c.930C>T	c.(928-930)ttC>ttT	p.F310F	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	310					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTACTTACTTGAATCCTAGGA	0.423																																																	0													94	85	88					7																	122774466		2203	4300	6503	SO:0001819	synonymous_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.930C>T	7.37:g.122774466G>A			Q9H5Z0	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.F310	ENST00000194130.2	37	c.930	CCDS5786.1	7																																																																																			SLC13A1	-	pfam_Na/sul_symport		0.423	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	G	NM_022444		122774466	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122774466	G	A	122774466	2	1	37	1	0	0	0	0	0	0	0	1	14421	1281	45	1		1	SLC13A1	7	122774466	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	14619488	122774466	36364197	53	5131										
NUP205	23165	genome.wustl.edu	37	chr7	135330313	135330313	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	caagattccttatttgcctcGagaaccttgtttaaaagcag	7	9	0	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:135330313G>A	ENST00000285968.6	+	41	5807	c.5781G>A	c.(5779-5781)tcG>tcA	p.S1927S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1927					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S1927S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTTGCCTCGAGAACCTTGT	0.378											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	lung(1)											140	136	137					7																	135330313		2202	4300	6502	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5781G>A	7.37:g.135330313G>A		1617	A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.S1927	ENST00000285968.6	37	c.5781	CCDS34759.1	7																																																																																			NUP205	-	NULL		0.378	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135330313	1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	0.995	A	A	135330313	G	A	135330313	2	1	37	1	0	0	0	0	0	0	0	1	10783	1045	37	1		1	NUP205	7	135330313	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	12555847	135330313	23808350	54	5132										
FGL1	2267	genome.wustl.edu	37	chr8	17731893	17731893	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gttaaagttttcactgccatCagatcgtctctgaattacag	7	9	3	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:17731893C>A	ENST00000398056.2	-	6	1197	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	FGL1_ENST00000522444.1_Missense_Mutation_p.D128Y|FGL1_ENST00000381840.2_Missense_Mutation_p.D128Y|FGL1_ENST00000518650.1_Missense_Mutation_p.D128Y|FGL1_ENST00000398054.1_Missense_Mutation_p.D128Y|FGL1_ENST00000381841.2_Missense_Mutation_p.D128Y|FGL1_ENST00000427924.1_Missense_Mutation_p.D128Y			Q08830	FGL1_HUMAN	fibrinogen-like 1	128	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCACTGCCATCAGATCGTCTC	0.363																																																	0													135	126	129					8																	17731893		2203	4300	6503	SO:0001583	missense	2267			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.382G>T	8.37:g.17731893C>A	ENSP00000381133:p.Asp128Tyr		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.D128Y	ENST00000398056.2	37	c.382	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019108	0.75275	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.188913	0.56097	D	0.000027	D	0.94311	0.8172	H	0.96430	3.82	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.989;0.997;1.0	D	0.95911	0.8923	10	0.87932	D	0	.	18.9683	0.92706	0.0:1.0:0.0:0.0	.	98;128;128	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	Y	128;128;98;128;128;128;128;128;128	ENSP00000381133:D128Y;ENSP00000429757:D128Y;ENSP00000371263:D128Y;ENSP00000401952:D128Y;ENSP00000381131:D128Y;ENSP00000371262:D128Y;ENSP00000428430:D128Y	ENSP00000221204:D128Y	D	-	1	0	FGL1	17776173	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.108000	0.57817	2.562000	0.86427	0.555000	0.69702	GAT	FGL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.363	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	C	NM_004467		17731893	-1	no_errors	ENST00000221204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17731893	C	A	17731893	3	1	37	1	0	0	0	0	1	0	0	0	5890	826	29	3	576	3	FGL1	8	17731893	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		17731893	128632129	55	5133										
KCNB2	9312	genome.wustl.edu	37	chr8	73849283	73849283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cagactgccaagaaaagcctGagaggccatctgcatatgaa	10	10	1	4			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:73849283G>A	ENST00000523207.1	+	3	2281	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	565					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGAAAAGCCTGAGAGGCCATC	0.502																																																	0													87	79	81					8																	73849283		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1693G>A	8.37:g.73849283G>A	ENSP00000430846:p.Glu565Lys		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E565K	ENST00000523207.1	37	c.1693	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559275	0.27827	.	.	ENSG00000182674	ENST00000523207	T	0.23552	1.9	4.93	4.93	0.64822	.	0.166852	0.28093	N	0.016640	T	0.20941	0.0504	N	0.22421	0.69	0.26459	N	0.975476	B	0.26602	0.154	B	0.31101	0.124	T	0.10636	-1.0621	10	0.19590	T	0.45	.	18.323	0.90244	0.0:0.0:1.0:0.0	.	565	Q92953	KCNB2_HUMAN	K	565	ENSP00000430846:E565K	ENSP00000430846:E565K	E	+	1	0	KCNB2	74011837	0.167000	0.22975	0.946000	0.38457	0.954000	0.61252	2.072000	0.41510	2.543000	0.85770	0.655000	0.94253	GAG	KCNB2	-	pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73849283	1	no_errors	ENST00000523207	ensembl	human	known	70_37	missense	SNP	0.597	A	A	73849283	G	A	73849283	3	1	37	1	0	0	0	0	1	0	0	0	8033	1291	45	1	1699	1	KCNB2	8	73849283	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	56117390	73849283	72514739	56	5134										
RALYL	138046	genome.wustl.edu	37	chr8	85441636	85441636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctcccgtgttttcatcggcaAtctaaatacggcaattgtca	7	11	3	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:85441636A>G	ENST00000521268.1	+	2	1185	c.80A>G	c.(79-81)aAt>aGt	p.N27S	RALYL_ENST00000521695.1_Missense_Mutation_p.N27S|RALYL_ENST00000522455.1_Missense_Mutation_p.N27S|RALYL_ENST00000518566.1_Missense_Mutation_p.N27S|RALYL_ENST00000517638.1_Missense_Mutation_p.N40S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTCATCGGCAATCTAAATACG	0.398																																																	0													67	69	68					8																	85441636		1999	4186	6185	SO:0001583	missense	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.80A>G	8.37:g.85441636A>G	ENSP00000430367:p.Asn27Ser		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.N27S	ENST00000521268.1	37	c.80	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145316	0.77888	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647	T;T;T;T;T;T;T;T	0.56776	1.66;1.66;1.66;1.66;1.66;1.66;1.66;0.44	5.26	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.170233	0.49305	D	0.000147	T	0.71829	0.3386	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.992;0.987;0.996	T	0.74833	-0.3530	10	0.87932	D	0	.	11.7038	0.51585	0.8673:0.0:0.0:0.1327	.	27;40;27	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	S	27;27;27;27;27;27;40;27	ENSP00000427787:N27S;ENSP00000430394:N27S;ENSP00000428667:N27S;ENSP00000430367:N27S;ENSP00000430065:N27S;ENSP00000428711:N27S;ENSP00000430128:N40S;ENSP00000429284:N27S	ENSP00000430128:N40S	N	+	2	0	RALYL	85604191	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	9.286000	0.95898	0.924000	0.37069	0.456000	0.33151	AAT	RALYL	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom		0.398	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	A			85441636	1	no_errors	ENST00000521268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85441636	A	G	85441636	3	3	37	1	0	0	0	0	1	0	0	0	13050	101	4	5	125	5	RALYL	8	85441636	Missense_Mutation	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	11592353	85441636	60922386	57	5135										
SDC2	6383	genome.wustl.edu	37	chr8	97614702	97614702	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctgttgactagtgctgctccAaaagtggaaaccacgacgct	10	11	0	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:97614702A>G	ENST00000302190.4	+	3	1173	c.252A>G	c.(250-252)ccA>ccG	p.P84P	SDC2_ENST00000522911.1_Silent_p.P55P|SDC2_ENST00000519914.1_Silent_p.P55P|SDC2_ENST00000518385.1_Silent_p.P48P	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	84					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GTGCTGCTCCAAAAGTGGAAA	0.423																																																	0													166	150	155					8																	97614702		2203	4300	6503	SO:0001819	synonymous_variant	6383			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.252A>G	8.37:g.97614702A>G			B3KQA3|Q6PIS6|Q9H6V1	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.P84	ENST00000302190.4	37	c.252	CCDS6272.1	8																																																																																			SDC2	-	pfam_Syndecan		0.423	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC2	HGNC	protein_coding	OTTHUMT00000379750.1	A	NM_002998		97614702	1	no_errors	ENST00000302190	ensembl	human	known	70_37	silent	SNP	0.006	G	G	97614702	A	G	97614702	2	3	37	1	0	0	0	0	0	0	0	1	13982	117	5	5		5	SDC2	8	97614702	Silent	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	12173066	97614702	48749320	58	5136										
TATDN1	83940	genome.wustl.edu	37	chr8	125528235	125528235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tcttttcaaattcaccacatCttgtaggatgacatccaact	4	11	4	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:125528235C>G	ENST00000276692.6	-	5	276	c.239G>C	c.(238-240)aGa>aCa	p.R80T	TATDN1_ENST00000519548.1_Missense_Mutation_p.R33T|TATDN1_ENST00000605953.1_Missense_Mutation_p.R80T|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Missense_Mutation_p.R26T	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	80					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCACCACATCTTGTAGGATG	0.303																																																	0													72	67	69					8																	125528235		2203	4300	6503	SO:0001583	missense	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.239G>C	8.37:g.125528235C>G	ENSP00000276692:p.Arg80Thr		B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_TatD_family,pirsf_TatD_family	p.R80T	ENST00000276692.6	37	c.239	CCDS6351.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466278|4.466278	0.84425|0.84425	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000519232|ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678;ENST00000523888;ENST00000523152	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77725|0.77725	0.4173|0.4173	M|M	0.79123|0.79123	2.44|2.44	0.53005|0.53005	D|D	0.999964|0.999964	.|P;D	.|0.55800	.|0.887;0.973	.|P;P	.|0.57548	.|0.823;0.621	T|T	0.79446|0.79446	-0.1800|-0.1800	5|9	.|0.59425	.|D	.|0.04	-4.1976|-4.1976	19.5498|19.5498	0.95312|0.95312	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80	.|E5RG17;Q6P1N9	.|.;TATD1_HUMAN	N|T	109|80;33;80;26;33;20	.|.	.|ENSP00000276692:R80T	K|R	-|-	3|2	2|0	TATDN1|TATDN1	125597416|125597416	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.972000|0.972000	0.66771|0.66771	6.703000|6.703000	0.74633|0.74633	2.623000|2.623000	0.88846|0.88846	0.563000|0.563000	0.77884|0.77884	AAG|AGA	TATDN1	-	pfam_TatD_family,pirsf_TatD_family		0.303	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN1	HGNC	protein_coding	OTTHUMT00000381655.1	C	NM_032026		125528235	-1	no_errors	ENST00000276692	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125528235	C	G	125528235	3	3	37	1	0	0	0	0	1	0	0	0	15621	913	32	1	686	1	TATDN1	8	125528235	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	27913533	125528235	20835787	59	5137										
ZNF623	9831	genome.wustl.edu	37	chr8	144733545	144733545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gattttaactcaactacaaaCgttaaaaataatcaaagggt	5	6	2	0	rs373603798		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:144733545C>T	ENST00000501748.2	+	1	1592	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	ZNF623_ENST00000526926.1_Silent_p.N461N|ZNF623_ENST00000458270.2_Silent_p.N461N	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N501N(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAACTACAAACGTTAAAAATA	0.408																																																	1	Substitution - coding silent(1)	endometrium(1)											76	76	76					8																	144733545		2203	4300	6503	SO:0001819	synonymous_variant	9831			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1503C>T	8.37:g.144733545C>T			A4FU80|B4DGP3|E7ENV5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N501	ENST00000501748.2	37	c.1503	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109439	0.06924	.	.	ENSG00000183309	ENST00000328466	.	.	.	3.78	2.87	0.33458	.	.	.	.	.	T	0.62085	0.2399	.	.	.	0.40107	D	0.976446	.	.	.	.	.	.	T	0.62895	-0.6757	5	0.54805	T	0.06	-4.3385	8.4296	0.32750	0.0:0.8779:0.0:0.1221	.	.	.	.	M	461	.	ENSP00000330358:T461M	T	+	2	0	ZNF623	144804688	0.000000	0.05858	0.030000	0.17652	0.041000	0.13682	0.158000	0.16422	0.902000	0.36520	0.491000	0.48974	ACG	ZNF623	-	NULL		0.408	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	C	NM_014789		144733545	1	no_errors	ENST00000501748	ensembl	human	known	70_37	silent	SNP	0.637	T	T	144733545	C	T	144733545	2	4	37	1	0	0	0	0	0	0	0	1	18077	535	19	2		2	ZNF623	8	144733545	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	19205310	144733545	1630477	60	5138										
C9orf123	90871	genome.wustl.edu	37	chr9	7799696	7799696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcggtaccgggaggcgcagtGatataggactcaaaaggctg	16	8	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:7799696G>A	ENST00000358227.4	-	1	371	c.39C>T	c.(37-39)atC>atT	p.I13I	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	13						integral component of membrane (GO:0016021)											GAGGCGCAGTGATATAGGACT	0.637																																																	0													23	25	24					9																	7799696		2203	4300	6503	SO:0001819	synonymous_variant	90871			BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 123"	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.39C>T	9.37:g.7799696G>A			A8K9B7|Q5T6Y9|Q9NT74	Silent	SNP	NULL	p.I13	ENST00000358227.4	37	c.39	CCDS34989.1	9																																																																																			C9orf123	-	NULL		0.637	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf123	HGNC	protein_coding	OTTHUMT00000051705.1	G	NM_033428		7799696	-1	no_errors	ENST00000358227	ensembl	human	known	70_37	silent	SNP	0.001	A	A	7799696	G	A	7799696	2	1	37	1	0	0	0	0	0	0	0	1	2458	1280	45	1		1	C9orf123	9	7799696	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		7799696	133413735	61	5139										
CCDC107	203260	genome.wustl.edu	37	chr9	35658621	35658621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cacggaaccccggcggcgacCaccgctcaaggatcaacgcg	12	17	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:35658621C>A	ENST00000426546.2	+	2	221	c.155C>A	c.(154-156)cCa>cAa	p.P52Q	CCDC107_ENST00000421582.2_Missense_Mutation_p.P52Q|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378406.1_Missense_Mutation_p.P52Q|CCDC107_ENST00000378407.3_Missense_Mutation_p.P52Q|CCDC107_ENST00000327351.2_Missense_Mutation_p.P52Q|CCDC107_ENST00000378409.3_Missense_Mutation_p.P52Q|RMRP_ENST00000602361.1_lincRNA	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	52						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCGGCGACCACCGCTCAAG	0.706																																																	0													8	11	10					9																	35658621		2116	4186	6302	SO:0001583	missense	203260			AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.155C>A	9.37:g.35658621C>A	ENSP00000414964:p.Pro52Gln		A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	NULL	p.P52Q	ENST00000426546.2	37	c.155	CCDS6583.1	9	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078135	0.36662	.	.	ENSG00000159884	ENST00000378407;ENST00000378406;ENST00000426546;ENST00000327351;ENST00000421582;ENST00000378409	T;T	0.34667	1.75;1.35	4.42	2.54	0.30619	.	0.184640	0.35040	N	0.003486	T	0.34803	0.0910	L	0.39898	1.24	0.09310	N	1	P;P;P;P;P	0.52061	0.95;0.95;0.904;0.904;0.835	P;P;P;P;P	0.51355	0.667;0.667;0.648;0.595;0.474	T	0.11591	-1.0581	10	0.72032	D	0.01	-0.2142	5.9332	0.19150	0.0:0.7024:0.1944:0.1032	.	52;52;52;52;52	F8W8S5;Q8WV48;A6XND6;Q8WV48-4;Q8WV48-2	.;CC107_HUMAN;.;.;.	Q	52	ENSP00000414964:P52Q;ENSP00000367665:P52Q	ENSP00000330327:P52Q	P	+	2	0	CCDC107	35648621	0.001000	0.12720	0.127000	0.21898	0.004000	0.04260	-0.008000	0.12788	0.774000	0.33427	0.650000	0.86243	CCA	CCDC107	-	NULL		0.706	CCDC107-001	KNOWN	basic|CCDS	protein_coding	CCDC107	HGNC	protein_coding	OTTHUMT00000052325.1	C	NM_174923		35658621	1	no_errors	ENST00000426546	ensembl	human	known	70_37	missense	SNP	0.141	A	A	35658621	C	A	35658621	3	1	37	1	0	0	0	0	1	0	0	0	2747	594	21	4	161	4	CCDC107	9	35658621	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	27858925	35658621	105554810	62	5140										
INVS	27130	genome.wustl.edu	37	chr9	103060280	103060280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	taaaagcctcttctgtgctgCgtctcaactcaggtaaggca	9	11	4	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:103060280C>T	ENST00000262457.2	+	16	3264	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C	INVS_ENST00000541287.1_Missense_Mutation_p.R931C|INVS_ENST00000262456.2_Missense_Mutation_p.R857C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1027					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R1027C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTCTGTGCTGCGTCTCAACTC	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											95	90	91					9																	103060280		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3079C>T	9.37:g.103060280C>T	ENSP00000262457:p.Arg1027Cys		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R1027C	ENST00000262457.2	37	c.3079	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308150	0.23821	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.45668	0.89;1.01;0.92	4.96	3.1	0.35709	.	0.934954	0.09140	N	0.843055	T	0.36880	0.0983	L	0.29908	0.895	0.31063	N	0.71387	D;P;B	0.65815	0.995;0.876;0.001	P;B;B	0.46975	0.533;0.232;0.001	T	0.36163	-0.9759	10	0.66056	D	0.02	.	8.5179	0.33257	0.0:0.753:0.1642:0.0828	.	931;1027;857	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	C	1027;931;857	ENSP00000262457:R1027C;ENSP00000444454:R931C;ENSP00000262456:R857C	ENSP00000262456:R857C	R	+	1	0	INVS	102100101	0.001000	0.12720	0.918000	0.36340	0.278000	0.26855	0.226000	0.17776	0.783000	0.33636	-0.266000	0.10368	CGT	INVS	-	NULL		0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	C	NM_014425		103060280	1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	0.890	T	T	103060280	C	T	103060280	3	4	37	1	0	0	0	0	1	0	0	0	7807	768	27	2	3137	2	INVS	9	103060280	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	67401659	103060280	38153151	63	5141										
KIAA1217	56243	genome.wustl.edu	37	chr10	24825775	24825775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	catcccgggctgacagtcacGttaaagacactaggtcgggc	12	12	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:24825775G>A	ENST00000376454.3	+	17	3517	c.3487G>A	c.(3487-3489)Gtt>Att	p.V1163I	KIAA1217_ENST00000307544.6_Missense_Mutation_p.V846I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V846I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V1127I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V1128I|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V846I|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1163					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGACAGTCACGTTAAAGACAC	0.488																																																	0													103	93	97					10																	24825775		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3487G>A	10.37:g.24825775G>A	ENSP00000365637:p.Val1163Ile		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.V1163I	ENST00000376454.3	37	c.3487	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017640	0.19355	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.42900	1.53;1.94;1.53;0.97;0.96;1.55	5.07	0.754	0.18410	.	0.844698	0.10279	N	0.693836	T	0.28433	0.0703	N	0.26042	0.785	0.22280	N	0.999231	B;B;B;B;B;B	0.19817	0.03;0.039;0.009;0.037;0.021;0.013	B;B;B;B;B;B	0.17098	0.008;0.005;0.003;0.017;0.006;0.004	T	0.25222	-1.0138	10	0.19590	T	0.45	.	10.8635	0.46839	0.0757:0.5471:0.3772:0.0	.	1128;1127;846;846;846;1163	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	I	1128;846;1163;1127;846;846;846;846	ENSP00000392625:V1128I;ENSP00000365637:V1163I;ENSP00000365635:V1127I;ENSP00000302343:V846I;ENSP00000379722:V846I;ENSP00000365634:V846I	ENSP00000302343:V846I	V	+	1	0	KIAA1217	24865781	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	0.889000	0.28282	-0.121000	0.11787	-0.300000	0.09419	GTT	KIAA1217	-	NULL		0.488	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	G	NM_019590		24825775	1	no_errors	ENST00000376454	ensembl	human	known	70_37	missense	SNP	0.999	A	A	24825775	G	A	24825775	3	1	37	1	0	0	0	0	1	0	0	0	8236	1145	40	2	3553	2	KIAA1217	10	24825775	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		24825775	110708972	64	5142										
ARMC4	55130	genome.wustl.edu	37	chr10	28151524	28151524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aataagttccaaaccaccaaCaaaggaacgaaccatttccc	4	13	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:28151524C>T	ENST00000305242.5	-	18	2730	c.2638G>A	c.(2638-2640)Gtt>Att	p.V880I	ARMC4_ENST00000545014.1_Missense_Mutation_p.V405I|ARMC4_ENST00000537576.1_Missense_Mutation_p.V572I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	880					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAACCACCAACAAAGGAACGA	0.353																																																	0													88	83	84					10																	28151524		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2638G>A	10.37:g.28151524C>T	ENSP00000306410:p.Val880Ile		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.V880I	ENST00000305242.5	37	c.2638	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639125	0.67244	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.95412	-3.7;-3.7;-3.7	5.75	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.061139	0.64402	D	0.000004	D	0.94768	0.8311	M	0.81497	2.545	0.80722	D	1	P;P	0.40553	0.564;0.721	B;B	0.37144	0.202;0.242	D	0.94352	0.7580	10	0.56958	D	0.05	-28.5796	14.8532	0.70313	0.0:0.9313:0.0:0.0687	.	405;880	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	I	572;880;405	ENSP00000443208:V572I;ENSP00000306410:V880I;ENSP00000441076:V405I	ENSP00000306410:V880I	V	-	1	0	ARMC4	28191530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.292000	0.51772	1.431000	0.47355	0.650000	0.86243	GTT	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo		0.353	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	C	NM_018076		28151524	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28151524	C	T	28151524	3	4	37	1	0	0	0	0	1	0	0	0	954	478	17	4	508	4	ARMC4	10	28151524	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	3325749	28151524	107383223	65	5143										
TNKS2	80351	genome.wustl.edu	37	chr10	93610994	93610994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tcactttggatgtattagttGagatggggcacaaggagctg	14	5	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:93610994G>A	ENST00000371627.4	+	21	3095	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	906	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGTATTAGTTGAGATGGGGCA	0.378																																																	0													117	119	118					10																	93610994		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2716G>A	10.37:g.93610994G>A	ENSP00000360689:p.Glu906Lys		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.E906K	ENST00000371627.4	37	c.2716	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.420488	0.96111	.	.	ENSG00000107854	ENST00000371627	D	0.84589	-1.87	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000018	D	0.88217	0.6377	M	0.81942	2.565	0.80722	D	1	P	0.37594	0.601	B	0.40444	0.329	D	0.89058	0.3460	10	0.59425	D	0.04	.	19.3617	0.94442	0.0:0.0:1.0:0.0	.	906	Q9H2K2	TNKS2_HUMAN	K	906	ENSP00000360689:E906K	ENSP00000360689:E906K	E	+	1	0	TNKS2	93600974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	GAG	TNKS2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.378	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	G	NM_025235		93610994	1	no_errors	ENST00000371627	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93610994	G	A	93610994	3	1	37	1	0	0	0	0	1	0	0	0	16351	1291	45	1	2798	1	TNKS2	10	93610994	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	65459470	93610994	41923753	66	5144										
AMBRA1	55626	genome.wustl.edu	37	chr11	46569840	46569840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ggttttatcttctaccagctCctgcagaagccgctgagctc	9	13	2	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:46569840C>T	ENST00000458649.2	-	2	509	c.91G>A	c.(91-93)Gag>Aag	p.E31K	AMBRA1_ENST00000533727.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E31K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E31K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	31					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTACCAGCTCCTGCAGAAGC	0.522																																																	0													176	190	185					11																	46569840		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.91G>A	11.37:g.46569840C>T	ENSP00000415327:p.Glu31Lys		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E31K	ENST00000458649.2	37	c.91		11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937026	0.73557	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.70045	-0.3;-0.45;-0.06;-0.19;-0.06;-0.19;-0.19	6.08	6.08	0.98989	.	0.247838	0.43747	D	0.000522	T	0.53061	0.1773	N	0.17082	0.46	0.46241	D	0.998943	B;B;B;B;P;B	0.34587	0.146;0.228;0.228;0.228;0.458;0.228	B;B;B;B;B;B	0.35039	0.057;0.121;0.121;0.121;0.194;0.121	T	0.55321	-0.8159	10	0.46703	T	0.11	.	15.3963	0.74798	0.1392:0.8608:0.0:0.0	.	31;31;31;31;31;31	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	K	31	ENSP00000318313:E31K;ENSP00000433372:E31K;ENSP00000431926:E31K;ENSP00000410899:E31K;ENSP00000298834:E31K;ENSP00000415327:E31K;ENSP00000433945:E31K	ENSP00000298834:E31K	E	-	1	0	AMBRA1	46526416	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.446000	0.60014	2.894000	0.99253	0.591000	0.81541	GAG	AMBRA1	-	NULL		0.522	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46569840	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46569840	C	T	46569840	3	4	37	1	0	0	0	0	1	0	0	0	565	864	30	1	3607	1	AMBRA1	11	46569840	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		46569840	88436676	67	5145										
CKAP5	9793	genome.wustl.edu	37	chr11	46831302	46831302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	attggcttacctccttcagcAtctccaccagcagactgttg	7	14	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:46831302A>T	ENST00000529230.1	-	6	799	c.753T>A	c.(751-753)gaT>gaA	p.D251E	CKAP5_ENST00000415402.1_Missense_Mutation_p.D251E|CKAP5_ENST00000312055.5_Missense_Mutation_p.D251E|CKAP5_ENST00000354558.3_Missense_Mutation_p.D251E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	251					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTCCTTCAGCATCTCCACCAG	0.433																																					Ovarian(4;85 273 2202 4844 13323)												0													211	202	205					11																	46831302		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.753T>A	11.37:g.46831302A>T	ENSP00000432768:p.Asp251Glu		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D251E	ENST00000529230.1	37	c.753	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271395	0.40194	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.78	3.48	0.39840	Armadillo-like helical (1);Armadillo-type fold (1);	0.148471	0.64402	D	0.000015	T	0.46737	0.1408	L	0.28694	0.88	0.53688	D	0.999973	D;B;B	0.61697	0.99;0.008;0.003	D;B;B	0.73380	0.98;0.019;0.003	T	0.26087	-1.0113	10	0.27082	T	0.32	-23.3662	9.7882	0.40688	0.8606:0.0:0.1394:0.0	.	251;251;251	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	E	251	ENSP00000432768:D251E;ENSP00000395302:D251E;ENSP00000310227:D251E;ENSP00000346566:D251E	ENSP00000310227:D251E	D	-	3	2	CKAP5	46787878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.577000	0.46042	1.003000	0.39130	-0.297000	0.09499	GAT	CKAP5	-	superfamily_ARM-type_fold		0.433	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	A	NM_014756		46831302	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46831302	A	T	46831302	3	4	37	1	0	0	0	0	1	0	0	0	3450	214	8	5	5501	5	CKAP5	11	46831302	Missense_Mutation	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	261462	46831302	88175214	68	5146										
PTPRJ	5795	genome.wustl.edu	37	chr11	48149588	48149588	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	acgccgggcttcctccaagtGcacacccgtgagttcatgcc	10	16	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:48149588G>T	ENST00000418331.2	+	7	1702	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PTPRJ_ENST00000440289.2_Silent_p.V450V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	450	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCTCCAAGTGCACACCCGTG	0.592																																																	0													94	82	86					11																	48149588		2201	4298	6499	SO:0001819	synonymous_variant	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1350G>T	11.37:g.48149588G>T			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V450	ENST00000418331.2	37	c.1350	CCDS7945.1	11																																																																																			PTPRJ	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	G			48149588	1	no_errors	ENST00000418331	ensembl	human	known	70_37	silent	SNP	0.952	T	T	48149588	G	T	48149588	2	4	37	1	0	0	0	0	0	0	0	1	12834	1306	46	4		4	PTPRJ	11	48149588	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	1318286	48149588	86856928	69	5147										
AHNAK	79026	genome.wustl.edu	37	chr11	62288062	62288062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ggcagagaaatgtccatgtcGcccttcacctttggaccttt	9	12	1	1	rs371307743		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:62288062G>A	ENST00000378024.4	-	5	14101	c.13827C>T	c.(13825-13827)ggC>ggT	p.G4609G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4609					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCCATGTCGCCCTTCACCT	0.512																																																	0								G	,	0,4404		0,0,2202	106	104	105		13827,	-10.9	0.1	11		105	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	4609/5891,	62288062	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13827C>T	11.37:g.62288062G>A			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G4609	ENST00000378024.4	37	c.13827	CCDS31584.1	11																																																																																			AHNAK	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	G	NM_024060		62288062	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	silent	SNP	0.008	A	A	62288062	G	A	62288062	2	1	37	1	0	0	0	0	0	0	0	1	414	1074	38	2		2	AHNAK	11	62288062	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	14138474	62288062	72718454	70	5148										
EEF1G	1937	genome.wustl.edu	37	chr11	62327752	62327752	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cttctcagacccactctcttAccagtgatgagattgcagct	7	13	2	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:62327752A>C	ENST00000329251.4	-	8	1161		c.e8+1		EEF1G_ENST00000378019.3_Splice_Site|MIR3654_ENST00000496634.2_Splice_Site	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACTCTCTTACCAGTGATGA	0.507																																																	0													35	32	33					11																	62327752		1990	4172	6162	SO:0001630	splice_region_variant	100500804			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1030+1T>G	11.37:g.62327752A>C			B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Splice_Site	SNP	-	e9+2	ENST00000329251.4	37	c.1578+2	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	a	6.550	0.469704	0.12461	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	5.73	0.163	0.14986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9602	0.14063	0.4401:0.378:0.1081:0.0739	.	.	.	.	.	-1	.	.	.	-	.	.	EEF1G	62084328	1.000000	0.71417	0.380000	0.26093	0.415000	0.31203	5.007000	0.63984	0.339000	0.23719	-0.334000	0.08254	.	MIR3654	-	-		0.507	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3654	HGNC	protein_coding	OTTHUMT00000395047.1	A	NM_001404	Intron	62327752	-1	no_errors	ENST00000496634	ensembl	human	known	70_37	splice_site	SNP	0.079	C	C	62327752	A	C	62327752	5	2	37	1	0	0	0	0	0	0	1	0	4938	405	14	5	293	5	EEF1G	11	62327752	Splice_Site	SNP	A	TCGA-C5-A3HD-01B-11D-A20U-09	39690	62327752	72678764	71	5149										
WNK1	65125	genome.wustl.edu	37	chr12	993814	993814	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tctttttgtattcctttgcaGttgctgcctctacagctcag	7	11	3	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:993814G>A	ENST00000315939.6	+	19	4487		c.e19-1		WNK1_ENST00000535572.1_Splice_Site|WNK1_ENST00000530271.2_Splice_Site|WNK1_ENST00000340908.4_Splice_Site|WNK1_ENST00000537687.1_Splice_Site	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCTTTGCAGTTGCTGCCTC	0.403																																					Colon(19;451 567 6672 12618 28860)												0													80	71	74					12																	993814		2203	4300	6503	SO:0001630	splice_region_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3845-1G>A	12.37:g.993814G>A			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Splice_Site	SNP	-	e21-1	ENST00000315939.6	37	c.5339-1	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135703	0.37728	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9002	0.96983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNK1	864075	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	6.619000	0.74219	2.709000	0.92574	0.655000	0.94253	.	WNK1	-	-		0.403	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979	Intron	993814	1	no_errors	ENST00000530271	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	993814	G	A	993814	5	1	37	1	0	0	0	0	0	0	1	0	17408	1043	36	4	5420	4	WNK1	12	993814	Splice_Site	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		993814	132858081	72	5150										
ANO6	196527	genome.wustl.edu	37	chr12	45833645	45833645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttcaataatatctattttctTttctgttactttctttttcc	1	8	5	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:45833645T>G	ENST00000425752.2	+	20	3016	c.2714T>G	c.(2713-2715)tTt>tGt	p.F905C	ANO6_ENST00000435642.1_Missense_Mutation_p.F905C	NM_001142679.1	NP_001136151.1	Q4KMQ2	ANO6_HUMAN	anoctamin 6	0					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						tctattttcttttctgttact	0.284																																																	0													63	53	56					12																	45833645		692	1591	2283	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000425752.2:c.2714T>G	12.37:g.45833645T>G	ENSP00000391417:p.Phe905Cys		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.F905C	ENST00000425752.2	37	c.2714	CCDS44865.1	12	.	.	.	.	.	.	.	.	.	.	T	7.916	0.737641	0.15574	.	.	ENSG00000177119	ENST00000425752;ENST00000435642	T;T	0.71934	-0.61;-0.61	2.14	2.14	0.27477	.	.	.	.	.	T	0.39655	0.1086	N	0.08118	0	0.09310	N	1	P	0.45474	0.859	B	0.25140	0.058	T	0.33420	-0.9869	9	0.87932	D	0	.	6.2313	0.20736	0.0:0.0:0.0:1.0	.	905	E9PCT2	.	C	905	ENSP00000391417:F905C;ENSP00000413840:F905C	ENSP00000391417:F905C	F	+	2	0	ANO6	44119912	0.200000	0.23398	0.002000	0.10522	0.006000	0.05464	1.902000	0.39848	1.235000	0.43724	0.377000	0.23210	TTT	ANO6	-	NULL		0.284	ANO6-002	KNOWN	basic|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404819.1	T	XM_113743		45833645	1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	0.003	G	G	45833645	T	G	45833645	3	3	37	1	0	0	0	0	1	0	0	0	701	1841	64	5	3023	5	ANO6	12	45833645	Missense_Mutation	SNP	T	TCGA-C5-A3HD-01B-11D-A20U-09	44839831	45833645	88018250	73	5151										
RARG	5916	genome.wustl.edu	37	chr12	53607872	53607872	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	taggcaggcagctttgagcaGagtgatctggtcagcaatgc	14	8	2	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:53607872G>C	ENST00000425354.2	-	7	1271	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	RARG_ENST00000338561.5_Missense_Mutation_p.L251V|RARG_ENST00000394426.1_Missense_Mutation_p.L262V|RARG_ENST00000327550.3_Missense_Mutation_p.L190V|RARG_ENST00000543726.1_Missense_Mutation_p.L240V|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	262	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTTTGAGCAGAGTGATCTGG	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													204	200	201					12																	53607872		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.784C>G	12.37:g.53607872G>C	ENSP00000388510:p.Leu262Val	993	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L262V	ENST00000425354.2	37	c.784	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460671	0.63513	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.37	4.48	0.54585	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.88093	0.6344	H	0.95187	3.635	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;0.979;0.999;1.0	D;D;D;D	0.97110	0.998;0.977;0.997;1.0	D	0.91138	0.4943	10	0.87932	D	0	.	13.2549	0.60073	0.0786:0.0:0.9214:0.0	.	299;240;262;251	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	V	262;262;24;190;251;240;299	ENSP00000388510:L262V;ENSP00000377947:L262V;ENSP00000332695:L190V;ENSP00000343698:L251V;ENSP00000444335:L240V	ENSP00000332695:L190V	L	-	1	2	RARG	51894139	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.838000	0.62803	1.404000	0.46819	0.563000	0.77884	CTG	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53607872	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53607872	G	C	53607872	3	2	37	1	0	0	0	0	1	0	0	0	13084	933	33	1	596	1	RARG	12	53607872	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	7774227	53607872	80244023	74	5152										
DNAH10	196385	genome.wustl.edu	37	chr12	124393810	124393810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gccttggtttcttgccaggtCgtttgctaagcccccgaagc	11	13	1	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:124393810C>T	ENST00000409039.3	+	57	9489	c.9464C>T	c.(9463-9465)tCg>tTg	p.S3155L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3155	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGCCAGGTCGTTTGCTAAG	0.542																																																	0													46	46	46					12																	124393810		1937	4133	6070	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9464C>T	12.37:g.124393810C>T	ENSP00000386770:p.Ser3155Leu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.S3155L	ENST00000409039.3	37	c.9464	CCDS9255.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.667377|4.667377	0.88348|0.88348	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000540041|ENST00000409039	.|T	.|0.80033	.|-1.33	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Dynein heavy chain, coiled coil stalk (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92545|0.92545	0.7632|0.7632	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70935	.|0.971	D|D	0.93947|0.93947	0.7228|0.7228	5|10	.|0.72032	.|D	.|0.01	.|.	19.5161|19.5161	0.95165|0.95165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3155	.|Q8IVF4	.|DYH10_HUMAN	C|L	83|3155	.|ENSP00000386770:S3155L	.|ENSP00000386770:S3155L	R|S	+|+	1|2	0|0	DNAH10|DNAH10	122959763|122959763	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.445000|0.445000	0.32107|0.32107	7.755000|7.755000	0.85180|0.85180	2.604000|2.604000	0.88044|0.88044	0.650000|0.650000	0.86243|0.86243	CGT|TCG	DNAH10	-	NULL		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124393810	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124393810	C	T	124393810	3	4	37	1	0	0	0	0	1	0	0	0	4608	893	31	1	9690	1	DNAH10	12	124393810	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	70785938	124393810	9458085	75	5153										
CKAP2	26586	genome.wustl.edu	37	chr13	53036502	53036502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctgcttctaactatagagctCgtctgagtgagtggaaagct	11	8	2	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr13:53036502C>T	ENST00000378037.5	+	5	1198	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	CKAP2_ENST00000378034.3_Missense_Mutation_p.R369C|CKAP2_ENST00000490903.1_Missense_Mutation_p.R321C|CKAP2_ENST00000258607.5_Missense_Mutation_p.R369C	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTATAGAGCTCGTCTGAGTGA	0.363																																																	0													59	64	62					13																	53036502		2203	4299	6502	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1108C>T	13.37:g.53036502C>T	ENSP00000367276:p.Arg370Cys			Missense_Mutation	SNP	NULL	p.R370C	ENST00000378037.5	37	c.1108	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	20.9	4.071252	0.76301	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.95	5.95	0.96441	.	0.307309	0.34700	N	0.003751	T	0.59059	0.2166	M	0.78637	2.42	0.47659	D	0.999484	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.973;0.995;0.95	T	0.60831	-0.7185	10	0.87932	D	0	-0.4793	17.8635	0.88789	0.0:1.0:0.0:0.0	.	321;370;369;370	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	C	370;369;369;370;321	ENSP00000258607:R369C;ENSP00000367273:R369C;ENSP00000367276:R370C;ENSP00000417830:R321C	ENSP00000258607:R369C	R	+	1	0	CKAP2	51934503	0.996000	0.38824	1.000000	0.80357	0.822000	0.46500	3.276000	0.51646	2.811000	0.96726	0.655000	0.94253	CGT	CKAP2	-	NULL		0.363	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	C			53036502	1	no_errors	ENST00000378037	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53036502	C	T	53036502	3	4	37	1	0	0	0	0	1	0	0	0	3447	884	31	1	1126	1	CKAP2	13	53036502	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		53036502	62133376	76	5154										
DAOA	267012	genome.wustl.edu	37	chr13	106142425	106142425	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aaataacttctaccaaagctGaatgagtttggaagcagatt	8	6	1	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr13:106142425G>T	ENST00000375936.3	+	4	503	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Nonsense_Mutation_p.E82*	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	153					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					taccaaagctgaatgagtttg	0.483																																																	0													31	32	32					13																	106142425		1941	4100	6041	SO:0001587	stop_gained	267012			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.457G>T	13.37:g.106142425G>T	ENSP00000365103:p.Glu153*		A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Nonsense_Mutation	SNP	NULL	p.E153*	ENST00000375936.3	37	c.457	CCDS41905.1	13	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423686	0.83559	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	.	.	.	2.47	0.475	0.16774	.	.	.	.	.	.	.	.	.	.	.	0.09310	A	9.31353e-08	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.2119	0.10515	0.4101:0.0:0.5899:0.0	.	.	.	.	X	153;82	.	ENSP00000329951:E82X	E	+	1	0	DAOA	104940426	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.030000	0.12308	0.094000	0.17404	0.650000	0.86243	GAA	DAOA	-	NULL		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	G	NM_172370		106142425	1	no_errors	ENST00000375936	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	106142425	G	T	106142425	4	4	37	1	0	0	0	0	0	1	0	0	4237	1291	45	3	580	3	DAOA	13	106142425	Nonsense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	53105923	106142425	9027453	77	5155										
TRIM9	114088	genome.wustl.edu	37	chr14	51561087	51561087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcagcgcaggcggcacggatCgcagtagaagacatcgcact	14	12	0	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:51561087C>G	ENST00000298355.3	-	1	1692	c.571G>C	c.(571-573)Gat>Cat	p.D191H	TRIM9_ENST00000338969.5_Missense_Mutation_p.D191H|TRIM9_ENST00000360392.4_Missense_Mutation_p.D191H	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	191					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGCACGGATCGCAGTAGAAG	0.697																																																	0													27	26	26					14																	51561087		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.571G>C	14.37:g.51561087C>G	ENSP00000298355:p.Asp191His		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.D191H	ENST00000298355.3	37	c.571	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613139	0.46631	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.72051	-0.49;-0.62;0.43	4.96	4.96	0.65561	Zinc finger, B-box (2);	0.115763	0.56097	D	0.000026	T	0.66934	0.2840	L	0.51914	1.62	0.54753	D	0.999981	B;B;B	0.15141	0.002;0.012;0.004	B;B;B	0.16722	0.007;0.012;0.016	T	0.65865	-0.6064	10	0.59425	D	0.04	.	15.6895	0.77439	0.0:1.0:0.0:0.0	.	191;191;191	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	H	191	ENSP00000298355:D191H;ENSP00000342970:D191H;ENSP00000353561:D191H	ENSP00000298355:D191H	D	-	1	0	TRIM9	50630837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.785000	0.62418	2.291000	0.77112	0.561000	0.74099	GAT	TRIM9	-	superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box		0.697	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51561087	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51561087	C	G	51561087	3	3	37	1	0	0	0	0	1	0	0	0	16580	884	31	1	1651	1	TRIM9	14	51561087	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		51561087	55788453	78	5156										
SYNE2	23224	genome.wustl.edu	37	chr14	64685172	64685172	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aaagaaggcccgcgagtcctGaatggcaacccacagcagga	12	12	0	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:64685172G>T	ENST00000344113.4	+	108	19742	c.19530G>T	c.(19528-19530)ctG>ctT	p.L6510L	SYNE2_ENST00000458046.2_Silent_p.L167L|SYNE2_ENST00000441438.2_Silent_p.L41L|SYNE2_ENST00000555022.1_Silent_p.L388L|SYNE2_ENST00000394768.2_Silent_p.L2895L|SYNE2_ENST00000357395.3_Silent_p.L2895L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Silent_p.L293L|SYNE2_ENST00000358025.3_Silent_p.L6533L|SYNE2_ENST00000555002.1_Silent_p.L3167L|SYNE2_ENST00000554584.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6510					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCGAGTCCTGAATGGCAACC	0.532																																																	0													72	74	73					14																	64685172		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19530G>T	14.37:g.64685172G>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6533	ENST00000344113.4	37	c.19599	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.532	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64685172	1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	0.485	T	T	64685172	G	T	64685172	2	4	37	1	0	0	0	0	0	0	0	1	15476	1277	45	3		3	SYNE2	14	64685172	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	13124085	64685172	42664368	79	5157										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72196849	72196849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gccttgcacagaacactgtcGgacgagagcatttacaatag	10	10	0	2	rs141905323		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:72196849G>A	ENST00000555818.1	+	18	5103	c.4755G>A	c.(4753-4755)tcG>tcA	p.S1585S	SIPA1L1_ENST00000381232.3_Silent_p.S1564S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Silent_p.S1564S|SIPA1L1_ENST00000537413.1_Silent_p.S1039S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1585					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACACTGTCGGACGAGAGCA	0.557																																																	0								G		0,4406		0,0,2203	95	83	87		4755	-6.4	0.8	14	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIPA1L1	NM_015556.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1585/1805	72196849	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4755G>A	14.37:g.72196849G>A			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.S1585	ENST00000555818.1	37	c.4755	CCDS9807.1	14																																																																																			SIPA1L1	-	pfam_DUF3401		0.557	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72196849	1	no_errors	ENST00000555818	ensembl	human	known	70_37	silent	SNP	0.781	A	A	72196849	G	A	72196849	2	1	37	1	0	0	0	0	0	0	0	1	14359	1103	39	2		2	SIPA1L1	14	72196849	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	7511677	72196849	35152691	80	5158										
GTF2A1	2957	genome.wustl.edu	37	chr14	81659058	81659058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gttgcagttatctgtgcttgGgctggtgtaggtgctgccac	15	8	1	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:81659058G>A	ENST00000553612.1	-	7	1141	c.738C>T	c.(736-738)gcC>gcT	p.A246A	GTF2A1_ENST00000434192.2_Silent_p.A207A	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	246					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TCTGTGCTTGGGCTGGTGTAG	0.488																																																	0													167	160	163					14																	81659058		2203	4300	6503	SO:0001819	synonymous_variant	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.738C>T	14.37:g.81659058G>A			Q3KNQ9	Silent	SNP	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx	p.A246	ENST00000553612.1	37	c.738	CCDS9873.1	14																																																																																			GTF2A1	-	pfam_TFIIA_asu/bsu		0.488	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A1	HGNC	protein_coding	OTTHUMT00000413309.1	G	NM_015859		81659058	-1	no_errors	ENST00000553612	ensembl	human	known	70_37	silent	SNP	0.996	A	A	81659058	G	A	81659058	2	1	37	1	0	0	0	0	0	0	0	1	6872	1219	43	4		4	GTF2A1	14	81659058	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	9462209	81659058	25690482	81	5159										
CHGA	1113	genome.wustl.edu	37	chr14	93393957	93393957	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aggagctccaagacctcgctCtccaaggtattttccagcca	8	14	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:93393957C>G	ENST00000216492.5	+	4	530	c.250C>G	c.(250-252)Ctc>Gtc	p.L84V	CHGA_ENST00000334654.4_Missense_Mutation_p.L84V|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	84					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGACCTCGCTCTCCAAGGTAT	0.463																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													120	129	126					14																	93393957		2203	4300	6503	SO:0001583	missense	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.250C>G	14.37:g.93393957C>G	ENSP00000216492:p.Leu84Val		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.L84V	ENST00000216492.5	37	c.250	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	7.080	0.570053	0.13560	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01821	4.62;4.62	5.97	2.95	0.34219	.	0.787697	0.11836	N	0.524731	T	0.01627	0.0052	L	0.36672	1.1	0.80722	D	1	B;P	0.43578	0.4;0.811	B;B	0.40602	0.077;0.334	T	0.62737	-0.6791	10	0.30854	T	0.27	-7.2689	1.2778	0.02034	0.1541:0.4493:0.1502:0.2464	.	84;84	G5E968;P10645	.;CMGA_HUMAN	V	84	ENSP00000216492:L84V;ENSP00000334023:L84V	ENSP00000216492:L84V	L	+	1	0	CHGA	92463710	0.351000	0.24887	0.994000	0.49952	0.992000	0.81027	0.595000	0.24029	1.541000	0.49316	0.655000	0.94253	CTC	CHGA	-	pfam_Granin		0.463	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	C	NM_001275		93393957	1	no_errors	ENST00000216492	ensembl	human	known	70_37	missense	SNP	0.125	G	G	93393957	C	G	93393957	3	3	37	1	0	0	0	0	1	0	0	0	3343	913	32	1	264	1	CHGA	14	93393957	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	11734899	93393957	13955583	82	5160										
C15orf42	90381	genome.wustl.edu	37	chr15	90119090	90119090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gaggatcgcgcccacctgccCggcccggcgcccagggccac	14	20	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr15:90119090C>T	ENST00000268138.7	+	1	378	c.273C>T	c.(271-273)ccC>ccT	p.P91P	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Silent_p.P91P			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	91					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCCACCTGCCCGGCCCGGCGC	0.716																																																	0													5	7	6					15																	90119090		1933	4065	5998	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.273C>T	15.37:g.90119090C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.P91	ENST00000268138.7	37	c.273	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.716	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90119090	1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.014	T	T	90119090	C	T	90119090	2	4	37	1	0	0	0	0	0	0	0	1	1800	639	23	2		2	C15orf42	15	90119090	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		90119090	12412302	83	5161										
WDR24	84219	genome.wustl.edu	37	chr16	736989	736989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gtagggcttgcgccccgactCggcagccacgaggctctcct	13	16	1	0	rs375731444		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:736989C>T	ENST00000248142.6	-	7	1476	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.E363K|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	493										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCCCCGACTCGGCAGCCACG	0.706																																																	0								C	LYS/GLU	0,4322		0,0,2161	8	10	10		1087	4.6	0.3	16		10	1,8495		0,1,4247	no	missense	WDR24	NM_032259.2	56	0,1,6408	TT,TC,CC		0.0118,0.0,0.0078	benign	363/791	736989	1,12817	2161	4248	6409	SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1477G>A	16.37:g.736989C>T	ENSP00000248142:p.Glu493Lys		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E493K	ENST00000248142.6	37	c.1477		16	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488555	0.12641	0.0	1.18E-4	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.76839	-1.05;0.36	4.55	4.55	0.56014	.	0.106364	0.64402	D	0.000007	T	0.55449	0.1921	N	0.08118	0	0.53005	D	0.99996	B	0.30482	0.281	B	0.22880	0.042	T	0.58165	-0.7684	10	0.07030	T	0.85	-22.3056	16.8331	0.85950	0.0:1.0:0.0:0.0	.	363	Q96S15-2	.	K	493;363	ENSP00000248142:E493K;ENSP00000293883:E363K	ENSP00000248142:E493K	E	-	1	0	WDR24	676990	1.000000	0.71417	0.291000	0.24904	0.375000	0.29983	6.982000	0.76173	2.513000	0.84729	0.655000	0.94253	GAG	WDR24	-	NULL		0.706	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		736989	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	missense	SNP	0.997	T	T	736989	C	T	736989	3	4	37	1	0	0	0	0	1	0	0	0	17312	893	31	1	1313	1	WDR24	16	736989	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		736989	89617764	84	5162										
WDR24	84219	genome.wustl.edu	37	chr16	737621	737621	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttgtgggctgtgaacatcctCtcgcaccggtcgggacgccg	14	13	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:737621C>T	ENST00000248142.6	-	6	989	c.990G>A	c.(988-990)gaG>gaA	p.E330E	WDR24_ENST00000293883.4_Silent_p.E200E|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	330										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGAACATCCTCTCGCACCGGT	0.617																																																	0													102	85	91					16																	737621		2199	4300	6499	SO:0001819	synonymous_variant	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.990G>A	16.37:g.737621C>T			A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E330	ENST00000248142.6	37	c.990		16																																																																																			WDR24	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.617	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		737621	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	silent	SNP	1.000	T	T	737621	C	T	737621	2	4	37	1	0	0	0	0	0	0	0	1	17312	912	32	1		1	WDR24	16	737621	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	632	737621	89617132	85	5163										
SMG1	23049	genome.wustl.edu	37	chr16	18826564	18826564	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cattcatttgttgcatcggtGactaagggtgatgcaaaact	10	7	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:18826564G>A	ENST00000446231.2	-	60	10966	c.10554C>T	c.(10552-10554)gtC>gtT	p.V3518V	SMG1_ENST00000389467.3_Silent_p.V3519V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3518					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCATCGGTGACTAAGGGTG	0.363																																																	0													43	41	42					16																	18826564		1905	4134	6039	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10554C>T	16.37:g.18826564G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V3519	ENST00000446231.2	37	c.10557	CCDS45430.1	16																																																																																			SMG1	-	NULL		0.363	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18826564	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18826564	G	A	18826564	2	1	37	1	0	0	0	0	0	0	0	1	14825	1277	45	1		1	SMG1	16	18826564	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	18088943	18826564	71528189	86	5164										
SRCAP	10847	genome.wustl.edu	37	chr16	30718640	30718640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cgaagagatgcagtggctctCtgctgactttgctcaggagc	13	10	2	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:30718640C>T	ENST00000262518.4	+	5	828	c.443C>T	c.(442-444)tCt>tTt	p.S148F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S148F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S148F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	148	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGTGGCTCTCTGCTGACTTT	0.567																																																	0													85	84	85					16																	30718640		2017	4169	6186	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.443C>T	16.37:g.30718640C>T	ENSP00000262518:p.Ser148Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S148F	ENST00000262518.4	37	c.443	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128598	0.56721	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92149	-2.98;-2.95;-2.93	5.29	5.29	0.74685	Helicase/SANT-associated, DNA binding (1);HSA (1);	0.000000	0.51477	D	0.000094	D	0.95799	0.8633	M	0.76838	2.35	0.58432	D	0.999997	D;D	0.69078	0.996;0.997	P;D	0.67548	0.885;0.952	D	0.95990	0.8985	10	0.87932	D	0	-14.5061	17.8681	0.88801	0.0:1.0:0.0:0.0	.	148;148	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	F	148	ENSP00000262518:S148F;ENSP00000378499:S148F;ENSP00000343042:S148F	ENSP00000262518:S148F	S	+	2	0	SRCAP	30626141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.612000	0.82975	2.756000	0.94617	0.561000	0.74099	TCT	SRCAP	-	pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30718640	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30718640	C	T	30718640	3	4	37	1	0	0	0	0	1	0	0	0	15165	913	32	1	453	1	SRCAP	16	30718640	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	11892076	30718640	59636113	87	5165										
CHD9	80205	genome.wustl.edu	37	chr16	53243499	53243499	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	agagaaaaaaggtggaatcaGaaagcaagcaagaaaaggct	12	4	1	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:53243499G>C	ENST00000398510.3	+	2	1645	c.1558G>C	c.(1558-1560)Gaa>Caa	p.E520Q	CHD9_ENST00000564845.1_Missense_Mutation_p.E520Q|CHD9_ENST00000447540.1_Missense_Mutation_p.E520Q|CHD9_ENST00000566029.1_Missense_Mutation_p.E520Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	520					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGTGGAATCAGAAAGCAAGCA	0.438																																																	0													105	98	100					16																	53243499		1883	4108	5991	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1558G>C	16.37:g.53243499G>C	ENSP00000381522:p.Glu520Gln		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E520Q	ENST00000398510.3	37	c.1558		16	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778258	0.31502	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.54675	0.56;0.56	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000013	T	0.64438	0.2598	L	0.36672	1.1	0.47949	D	0.999555	B;B;B;D;B	0.76494	0.002;0.104;0.075;0.999;0.123	B;B;B;D;B	0.80764	0.001;0.135;0.026;0.994;0.057	T	0.56920	-0.7899	10	0.23891	T	0.37	-22.5063	19.7612	0.96319	0.0:0.0:1.0:0.0	.	46;520;520;520;520	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	Q	520;520;46	ENSP00000396345:E520Q;ENSP00000381522:E520Q	ENSP00000219084:E46Q	E	+	1	0	CHD9	51801000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.349000	0.52217	2.670000	0.90874	0.655000	0.94253	GAA	CHD9	-	NULL		0.438	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	G	NM_025134		53243499	1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53243499	G	C	53243499	3	2	37	1	0	0	0	0	1	0	0	0	3337	943	33	1	1564	1	CHD9	16	53243499	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	22524859	53243499	37111254	88	5166										
RSPRY1	89970	genome.wustl.edu	37	chr16	57238640	57238640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	agggtctgttgttgactctcGaagagcacatagcccacttc	10	11	2	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:57238640G>A	ENST00000537866.1	+	2	943	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E24K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	24						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GTTGACTCTCGAAGAGCACAT	0.493																																																	0													212	217	215					16																	57238640		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.70G>A	16.37:g.57238640G>A	ENSP00000443176:p.Glu24Lys		Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E24K	ENST00000537866.1	37	c.70	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936118	0.52972	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85339	-1.97;-1.97	5.02	4.04	0.47022	.	0.747332	0.13198	N	0.406208	T	0.80783	0.4689	L	0.40543	1.245	0.42774	D	0.993843	B;B	0.27117	0.072;0.168	B;B	0.22386	0.039;0.019	T	0.76602	-0.2899	10	0.51188	T	0.08	.	15.5142	0.75809	0.0:0.1389:0.8611:0.0	.	24;24	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	K	24	ENSP00000377942:E24K;ENSP00000443176:E24K	ENSP00000377942:E24K	E	+	1	0	RSPRY1	55796141	1.000000	0.71417	0.964000	0.40570	0.941000	0.58515	4.335000	0.59298	1.205000	0.43262	0.655000	0.94253	GAA	RSPRY1	-	NULL		0.493	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	G	NM_133368		57238640	1	no_errors	ENST00000394420	ensembl	human	known	70_37	missense	SNP	0.996	A	A	57238640	G	A	57238640	3	1	37	1	0	0	0	0	1	0	0	0	13743	1059	37	1	72	1	RSPRY1	16	57238640	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	3995141	57238640	33116113	89	5167										
CNGB1	1258	genome.wustl.edu	37	chr16	57931755	57931755	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	caccagcacagatttcccatCagggccgcccaagacctgca	8	17	1	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:57931755C>T	ENST00000251102.8	-	30	3100	c.3040G>A	c.(3040-3042)Gat>Aat	p.D1014N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1008N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1014					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GATTTCCCATCAGGGCCGCCC	0.562																																					Colon(156;1293 1853 16336 28962 38659)												0													162	173	169					16																	57931755		2034	4198	6232	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3040G>A	16.37:g.57931755C>T	ENSP00000251102:p.Asp1014Asn		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D1014N	ENST00000251102.8	37	c.3040	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117261	0.77323	.	.	ENSG00000070729	ENST00000251102	D	0.96745	-4.11	5.51	5.51	0.81932	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	L	0.39467	1.215	0.80722	D	1	P;B	0.42941	0.794;0.41	P;B	0.48952	0.596;0.349	D	0.95131	0.8255	10	0.42905	T	0.14	.	18.7539	0.91825	0.0:1.0:0.0:0.0	.	386;1014	Q14028-2;Q14028	.;CNGB1_HUMAN	N	1014	ENSP00000251102:D1014N	ENSP00000251102:D1014N	D	-	1	0	CNGB1	56489256	1.000000	0.71417	0.700000	0.30305	0.970000	0.65996	7.770000	0.85390	2.745000	0.94114	0.655000	0.94253	GAT	CNGB1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57931755	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57931755	C	T	57931755	3	4	37	1	0	0	0	0	1	0	0	0	3605	826	29	1	731	1	CNGB1	16	57931755	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	693115	57931755	32422998	90	5168										
CNGB1	1258	genome.wustl.edu	37	chr16	57951355	57951355	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttccaggccatcaccacgaaGaacagccataggacatacat	7	13	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:57951355G>A	ENST00000251102.8	-	21	2043	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	CNGB1_ENST00000564448.1_Silent_p.F655F	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	661					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCACCACGAAGAACAGCCATA	0.572																																					Colon(156;1293 1853 16336 28962 38659)												0													101	106	105					16																	57951355		2099	4227	6326	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1983C>T	16.37:g.57951355G>A			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F661	ENST00000251102.8	37	c.1983	CCDS42169.1	16																																																																																			CNGB1	-	NULL		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	G	NM_001297		57951355	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57951355	G	A	57951355	2	1	37	1	0	0	0	0	0	0	0	1	3605	933	33	1		1	CNGB1	16	57951355	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	19600	57951355	32403398	91	5169										
E2F4	1874	genome.wustl.edu	37	chr16	67229811	67229811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ggacagcagcagcagcagcaGcagcagcagcagcagcagca	14	13	0	0	rs575614504|rs562856782	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:67229811G>T	ENST00000379378.3	+	7	994	c.935G>T	c.(934-936)aGc>aTc	p.S312I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	312	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		agcagcagcagcagcagcagc	0.602																																																	0													38	42	41					16																	67229811		2197	4295	6492	SO:0001583	missense	1874			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.935G>T	16.37:g.67229811G>T	ENSP00000368686:p.Ser312Ile		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_E2F_TDP	p.S312I	ENST00000379378.3	37	c.935	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	g	13.33	2.206276	0.39003	.	.	ENSG00000205250	ENST00000379378	D	0.84370	-1.84	2.11	2.11	0.27256	.	1.064210	0.07329	N	0.878979	T	0.78773	0.4336	N	0.08118	0	0.25032	N	0.99127	D	0.55605	0.972	P	0.55011	0.766	T	0.69468	-0.5137	10	0.25751	T	0.34	-7.6297	7.7713	0.29010	0.0:0.0:1.0:0.0	.	312	Q16254	E2F4_HUMAN	I	312	ENSP00000368686:S312I	ENSP00000368686:S312I	S	+	2	0	E2F4	65787312	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	6.205000	0.72148	1.519000	0.48950	0.306000	0.20318	AGC	E2F4	-	NULL		0.602	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1	G	NM_001950		67229811	1	no_errors	ENST00000379378	ensembl	human	known	70_37	missense	SNP	0.999	T	T	67229811	G	T	67229811	3	4	37	1	0	0	0	0	1	0	0	0	4879	971	34	4	961	4	E2F4	16	67229811	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	9278456	67229811	23124942	92	5170										
TRAPPC1	58485	genome.wustl.edu	37	chr17	7835148	7835148	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tacaggttgtggacagtcatCtgcagggcagggagtgtgag	17	6	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:7835148C>G	ENST00000540486.1	-	2	60		c.e2-1		TRAPPC1_ENST00000303731.4_5'UTR|CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000565740.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000563694.1_5'Flank	NM_001166621.1	NP_001160093.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1						ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				GGACAGTCATCTGCAGGGCAG	0.632																																																	0													124	112	116					17																	7835148		2203	4300	6503	SO:0001630	splice_region_variant	58485			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"Trafficking protein particle complex"	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000540486.1:c.1-1G>C	17.37:g.7835148C>G			D3DTR0	Splice_Site	SNP	-	e1-1	ENST00000540486.1	37	c.1-1	CCDS11125.1	17																																																																																			TRAPPC1	-	-		0.632	TRAPPC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC1	HGNC	protein_coding		C	NM_021210	Intron	7835148	-1	no_errors	ENST00000540486	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	7835148	C	G	7835148	5	3	37	1	0	0	0	0	0	0	1	0	16487	927	32	1	453	1	TRAPPC1	17	7835148	Splice_Site	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09		7835148	73360062	93	5171										
ARHGEF15	22899	genome.wustl.edu	37	chr17	8215677	8215677	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tagtccagtgtcccggcgctCcgcctccccagaacctgctc	9	19	0	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:8215677C>G	ENST00000361926.3	+	2	430	c.320C>G	c.(319-321)tCc>tGc	p.S107C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S107C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	107	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCCCGGCGCTCCGCCTCCCCA	0.667																																																	0													103	110	108					17																	8215677		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.320C>G	17.37:g.8215677C>G	ENSP00000355026:p.Ser107Cys		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S107C	ENST00000361926.3	37	c.320	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	7.068	0.567824	0.13560	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.72505	-0.66;-0.66	4.85	3.86	0.44501	.	0.309004	0.24467	N	0.038280	T	0.63271	0.2497	L	0.27053	0.805	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.51415	0.536;0.669	T	0.55224	-0.8174	10	0.41790	T	0.15	-24.3026	9.2253	0.37402	0.0:0.8988:0.0:0.1012	.	107;107	D3DTR7;O94989	.;ARHGF_HUMAN	C	107	ENSP00000355026:S107C;ENSP00000412505:S107C	ENSP00000355026:S107C	S	+	2	0	ARHGEF15	8156402	0.952000	0.32445	0.939000	0.37840	0.511000	0.34104	3.576000	0.53878	2.549000	0.85964	0.555000	0.69702	TCC	ARHGEF15	-	NULL		0.667	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8215677	1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	0.262	G	G	8215677	C	G	8215677	3	3	37	1	0	0	0	0	1	0	0	0	898	855	30	1	322	1	ARHGEF15	17	8215677	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	380529	8215677	72979533	94	5172										
MYH8	4626	genome.wustl.edu	37	chr17	10317337	10317337	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	actttctcttcaggagtgaaGcccaggatgtcaatggcact	10	10	3	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:10317337G>T	ENST00000403437.2	-	12	1123	c.1029C>A	c.(1027-1029)ggC>ggA	p.G343G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	343	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGGAGTGAAGCCCAGGATGT	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													101	98	99					17																	10317337		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1029C>A	17.37:g.10317337G>T			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G343	ENST00000403437.2	37	c.1029	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10317337	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	silent	SNP	0.961	T	T	10317337	G	T	10317337	2	4	37	1	0	0	0	0	0	0	0	1	10064	958	34	4		4	MYH8	17	10317337	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	2101660	10317337	70877873	95	5173										
UTP6	55813	genome.wustl.edu	37	chr17	30228608	30228608	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tccagctgttccaattccggGagccgatcttctatgcgttc	9	13	2	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:30228608G>A	ENST00000261708.4	-	1	176	c.39C>T	c.(37-39)ctC>ctT	p.L13L	UTP6_ENST00000490218.2_5'Flank	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	13					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCAATTCCGGGAGCCGATCTT	0.567																																																	0													107	99	102					17																	30228608		2203	4300	6503	SO:0001819	synonymous_variant	55813			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.39C>T	17.37:g.30228608G>A			Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	pfam_U3_snoRNA_assoc-6,smart_HAT	p.L13	ENST00000261708.4	37	c.39	CCDS11269.1	17																																																																																			UTP6	-	pfam_U3_snoRNA_assoc-6		0.567	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP6	HGNC	protein_coding	OTTHUMT00000256265.2	G	NM_018428		30228608	-1	no_errors	ENST00000261708	ensembl	human	known	70_37	silent	SNP	0.988	A	A	30228608	G	A	30228608	2	1	37	1	0	0	0	0	0	0	0	1	17133	1161	41	1		1	UTP6	17	30228608	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	19911271	30228608	50966602	96	5174										
GPATCH8	23131	genome.wustl.edu	37	chr17	42501730	42501730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aactcacctgcttgtgtgcaTgatcataggagttgatatgg	11	7	2	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:42501730T>A	ENST00000591680.1	-	6	509	c.479A>T	c.(478-480)cAt>cTt	p.H160L	GPATCH8_ENST00000586265.1_5'Flank|GPATCH8_ENST00000434000.1_Missense_Mutation_p.H82L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	160							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTGTGTGCATGATCATAGGA	0.378																																																	0													150	140	143					17																	42501730		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.479A>T	17.37:g.42501730T>A	ENSP00000467556:p.His160Leu		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.H160L	ENST00000591680.1	37	c.479	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878293	0.72294	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14022	2.54	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49303	-0.8954	10	0.87932	D	0	-13.0781	15.3206	0.74117	0.0:0.0:0.0:1.0	.	160	Q9UKJ3	GPTC8_HUMAN	L	160;82	ENSP00000395016:H82L	ENSP00000335486:H160L	H	-	2	0	GPATCH8	39857256	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.027000	0.59764	0.477000	0.44152	CAT	GPATCH8	-	pfam_Znf_C2H2_jaz,pfscan_Znf_C2H2		0.378	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	T	NM_001002909		42501730	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42501730	T	A	42501730	3	1	37	1	0	0	0	0	1	0	0	0	6613	1464	51	5	4041	5	GPATCH8	17	42501730	Missense_Mutation	SNP	T	TCGA-C5-A3HD-01B-11D-A20U-09	12273122	42501730	38693480	97	5175										
CSHL1	1444	genome.wustl.edu	37	chr17	61987643	61987643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ggaaccgcacgggctccagcCgcgactcgatgagcagcagg	15	14	0	1	rs144051040		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:61987643C>T	ENST00000309894.5	-	4	349	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.R55Q|CSHL1_ENST00000450719.3_Missense_Mutation_p.R23Q|CSHL1_ENST00000438387.2_Missense_Mutation_p.R34Q|CSHL1_ENST00000561003.1_Missense_Mutation_p.R34Q|CSHL1_ENST00000346606.6_Missense_Mutation_p.R23Q|CSHL1_ENST00000392824.4_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	117						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GGGCTCCAGCCGCGACTCGAT	0.597																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	51	49	50		68,350,101,281	3.1	1	17	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	23/129,117/223,34/140,94/200	61987643	2,13004	2203	4300	6503	SO:0001583	missense	1444			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.350G>A	17.37:g.61987643C>T	ENSP00000309524:p.Arg117Gln		D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R117Q	ENST00000309894.5	37	c.350	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	11.95	1.791642	0.31685	0.0	2.33E-4	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90324	-2.65;-2.65;-2.65	3.07	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.08118	0	0.80722	D	1	B;P;P;P	0.44986	0.334;0.847;0.694;0.645	B;B;B;B	0.33339	0.101;0.101;0.162;0.146	T	0.81897	-0.0722	10	0.87932	D	0	.	11.9356	0.52872	0.0:1.0:0.0:0.0	.	23;34;117;94	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	Q	117;34;112;23;112	ENSP00000309524:R117Q;ENSP00000402632:R34Q;ENSP00000316360:R23Q	ENSP00000259003:R112Q	R	-	2	0	GH1	59341375	1.000000	0.71417	0.997000	0.53966	0.005000	0.04900	4.931000	0.63469	1.730000	0.51580	0.305000	0.20034	CGG	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.597	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	C	NM_022579		61987643	-1	no_errors	ENST00000309894	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61987643	C	T	61987643	3	4	37	1	0	0	0	0	1	0	0	0	3947	652	23	2	326	2	CSHL1	17	61987643	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	19485913	61987643	19207567	98	5176										
QRICH2	84074	genome.wustl.edu	37	chr17	74287142	74287142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttctccaagtcggtttggccGgcctgctcctcatccagatc	9	15	2	1	rs370721550		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:74287142G>A	ENST00000262765.5	-	4	3347	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1056										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CGGTTTGGCCGGCCTGCTCCT	0.532																																																	0								G		0,4406		0,0,2203	108	102	104		3168	-7.1	0	17		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	QRICH2	NM_032134.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1056/1664	74287142	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3168C>T	17.37:g.74287142G>A			A2RRE1|Q96LM3	Silent	SNP	NULL	p.A1056	ENST00000262765.5	37	c.3168	CCDS32741.1	17																																																																																			QRICH2	-	NULL		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74287142	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	silent	SNP	0.011	A	A	74287142	G	A	74287142	2	1	37	1	0	0	0	0	0	0	0	1	12910	1103	39	2		2	QRICH2	17	74287142	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	12299499	74287142	6908068	99	5177										
AZI1	22994	genome.wustl.edu	37	chr17	79167808	79167808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ccgcagctcctcggcctggcGcaggcagcgctgcgaggccc	15	18	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:79167808G>A	ENST00000269392.4	-	18	2495	c.2248C>T	c.(2248-2250)Cgc>Tgc	p.R750C	AZI1_ENST00000374782.3_Missense_Mutation_p.R747C|AZI1_ENST00000450824.2_Missense_Mutation_p.R747C|AZI1_ENST00000575907.1_Missense_Mutation_p.R750C	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		750					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGGCCTGGCGCAGGCAGCGC	0.701																																																	0													8	9	9					17																	79167808		2167	4267	6434	SO:0001583	missense	22994																														ENST00000269392.4:c.2248C>T	17.37:g.79167808G>A	ENSP00000269392:p.Arg750Cys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.R750C	ENST00000269392.4	37	c.2248		17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429150	0.83776	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16897	2.33;2.31;2.34	3.66	3.66	0.41972	.	0.143889	0.45126	D	0.000395	T	0.37517	0.1006	M	0.64997	1.995	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;D;D	0.67231	0.95;0.897;0.95;0.95	T	0.36456	-0.9747	10	0.87932	D	0	-18.5235	15.5435	0.76074	0.0:0.0:1.0:0.0	.	747;750;747;747	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	C	747;747;750	ENSP00000393583:R747C;ENSP00000363914:R747C;ENSP00000269392:R750C	ENSP00000269392:R750C	R	-	1	0	AZI1	76782403	0.966000	0.33281	0.707000	0.30419	0.940000	0.58332	5.207000	0.65197	1.867000	0.54127	0.563000	0.77884	CGC	AZI1	-	NULL		0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	G			79167808	-1	no_errors	ENST00000269392	ensembl	human	known	70_37	missense	SNP	0.857	A	A	79167808	G	A	79167808	3	1	37	1	0	0	0	0	1	0	0	0	1241	1087	38	2	1039	2	AZI1	17	79167808	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	4880666	79167808	2027402	100	5178										
FAM69C	125704	genome.wustl.edu	37	chr18	72114129	72114129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tgcagcaggctgaagtagacGtactcctcctgctgcagcag	12	12	0	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr18:72114129G>A	ENST00000343998.6	-	2	596	c.588C>T	c.(586-588)taC>taT	p.Y196Y	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						TGAAGTAGACGTACTCCTCCT	0.711																																																	0													8	13	12					18																	72114129		688	1580	2268	SO:0001819	synonymous_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.588C>T	18.37:g.72114129G>A				Silent	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.Y196	ENST00000343998.6	37	c.588	CCDS42445.2	18																																																																																			FAM69C	-	superfamily_Kinase-like_dom		0.711	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	G	XM_058931		72114129	-1	no_errors	ENST00000343998	ensembl	human	known	70_37	silent	SNP	0.056	A	A	72114129	G	A	72114129	2	1	37	1	0	0	0	0	0	0	0	1	5622	1140	40	2		2	FAM69C	18	72114129	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		72114129	5963119	101	5179										
MIER2	54531	genome.wustl.edu	37	chr19	308613	308613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cagggtgtcttgctccgggcGcggacggccggggccatcgg	19	13	1	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:308613G>A	ENST00000264819.4	-	12	1172	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCCGGGCGCGGACGGCCG	0.716																																																	0													17	25	22					19																	308613		2200	4292	6492	SO:0001583	missense	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1162C>T	19.37:g.308613G>A	ENSP00000264819:p.Arg388Cys		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R388C	ENST00000264819.4	37	c.1162	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202043	0.22121	.	.	ENSG00000105556	ENST00000264819	T	0.16073	2.37	3.01	3.01	0.34805	.	3.081050	0.01903	U	0.039315	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14008	-1.0488	10	0.54805	T	0.06	-3.6704	9.6147	0.39685	0.0:0.0:1.0:0.0	.	388	Q8N344	MIER2_HUMAN	C	388	ENSP00000264819:R388C	ENSP00000264819:R388C	R	-	1	0	MIER2	259613	0.597000	0.26874	0.003000	0.11579	0.019000	0.09904	2.601000	0.46249	1.659000	0.50751	0.462000	0.41574	CGC	MIER2	-	NULL		0.716	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	G	XM_041843		308613	-1	no_errors	ENST00000264819	ensembl	human	known	70_37	missense	SNP	0.005	A	A	308613	G	A	308613	3	1	37	1	0	0	0	0	1	0	0	0	9604	1087	38	2	487	2	MIER2	19	308613	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		308613	58820370	102	5180										
HMHA1	23526	genome.wustl.edu	37	chr19	1080508	1080508	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gtcatggccgctctcgatctCagactcggacagtgggctgg	14	12	3	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:1080508C>G	ENST00000313093.2	+	15	2105	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	HMHA1_ENST00000586866.1_Nonsense_Mutation_p.S629*|HMHA1_ENST00000590577.1_Nonsense_Mutation_p.S260*|HMHA1_ENST00000543365.1_Nonsense_Mutation_p.S508*|HMHA1_ENST00000590214.1_Nonsense_Mutation_p.S652*|HMHA1_ENST00000539243.2_Nonsense_Mutation_p.S641*|HMHA1_ENST00000536472.1_Nonsense_Mutation_p.S493*	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	625					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCGATCTCAGACTCGGAC	0.677																																																	0													39	44	42					19																	1080508		2202	4297	6499	SO:0001587	stop_gained	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1874C>G	19.37:g.1080508C>G	ENSP00000316772:p.Ser625*		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S625*	ENST00000313093.2	37	c.1874	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.130907	0.98085	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	.	.	.	4.17	3.13	0.36017	.	0.263915	0.34200	U	0.004180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-7.5795	10.0287	0.42087	0.0:0.8969:0.0:0.1031	.	.	.	.	X	641;625;625;493;619;508	.	ENSP00000316772:S625X	S	+	2	0	HMHA1	1031508	0.001000	0.12720	0.017000	0.16124	0.050000	0.14768	1.017000	0.29989	1.885000	0.54596	0.555000	0.69702	TCA	HMHA1	-	NULL		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	C			1080508	1	no_errors	ENST00000313093	ensembl	human	known	70_37	nonsense	SNP	0.084	G	G	1080508	C	G	1080508	4	3	37	1	0	0	0	0	0	1	0	0	7260	838	29	1	1932	1	HMHA1	19	1080508	Nonsense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	771895	1080508	58048475	103	5181										
PLIN4	729359	genome.wustl.edu	37	chr19	4504605	4504605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gcggctctgcaccagccgctCtgcgggcagctcctctacag	12	17	3	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:4504605C>T	ENST00000301286.3	-	6	3939	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1314						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACCAGCCGCTCTGCGGGCAGC	0.687																																																	0													8	10	10					19																	4504605		1931	4084	6015	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3940G>A	19.37:g.4504605C>T	ENSP00000301286:p.Glu1314Lys		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.E1314K	ENST00000301286.3	37	c.3940	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.208963	0.06140	.	.	ENSG00000167676	ENST00000301286	T	0.05786	3.39	4.63	2.06	0.26882	.	0.851711	0.09969	N	0.732440	T	0.04543	0.0124	N	0.22421	0.69	0.09310	N	1	B	0.22080	0.064	B	0.15484	0.013	T	0.42015	-0.9476	10	0.28530	T	0.3	-36.8217	6.9193	0.24378	0.0:0.6962:0.0:0.3038	.	1314	Q96Q06	PLIN4_HUMAN	K	1314	ENSP00000301286:E1314K	ENSP00000301286:E1314K	E	-	1	0	PLIN4	4455605	0.004000	0.15560	0.005000	0.12908	0.024000	0.10985	1.987000	0.40687	0.965000	0.38133	0.456000	0.33151	GAG	PLIN4	-	pfam_Perilipin		0.687	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4504605	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	4504605	C	T	4504605	3	4	37	1	0	0	0	0	1	0	0	0	12116	922	32	1	137	1	PLIN4	19	4504605	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	3424097	4504605	54624378	104	5182										
ZNF557	79230	genome.wustl.edu	37	chr19	7083388	7083388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cacgaggtcatctctttcttCgcactatagcattcatacag	6	12	4	0	rs201284911		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:7083388C>T	ENST00000439035.2	+	8	1145	c.905C>T	c.(904-906)tCg>tTg	p.S302L	ZNF557_ENST00000414706.1_Missense_Mutation_p.S309L|ZNF557_ENST00000252840.6_Missense_Mutation_p.S309L			Q8N988	ZN557_HUMAN	zinc finger protein 557	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TCTCTTTCTTCGCACTATAGC	0.473																																																	0								C	LEU/SER,LEU/SER,LEU/SER	2,4346	4.2+/-10.8	0,2,2172	144	155	151		926,905,926	-2.6	0	19		151	1,8551	1.2+/-3.3	0,1,4275	yes	missense,missense,missense	ZNF557	NM_001044387.1,NM_001044388.1,NM_024341.2	145,145,145	0,3,6447	TT,TC,CC		0.0117,0.046,0.0233	benign,benign,benign	309/431,302/424,309/431	7083388	3,12897	2174	4276	6450	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.905C>T	19.37:g.7083388C>T	ENSP00000398965:p.Ser302Leu		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S309L	ENST00000439035.2	37	c.926	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	C	0.598	-0.830313	0.02734	4.6E-4	1.17E-4	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.18174	2.23;2.23;2.23	1.31	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.25332	0.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37663	-0.9696	9	0.17369	T	0.5	.	6.3068	0.21143	0.0:0.1481:0.6344:0.2175	.	302;309	Q8N988;Q8N988-2	ZN557_HUMAN;.	L	309;309;302	ENSP00000252840:S309L;ENSP00000404065:S309L;ENSP00000398965:S302L	ENSP00000252840:S309L	S	+	2	0	ZNF557	7034388	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-6.534000	0.00062	-2.112000	0.00835	-0.786000	0.03341	TCG	ZNF557	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	C	NM_024341		7083388	1	no_errors	ENST00000252840	ensembl	human	known	70_37	missense	SNP	0.000	T	T	7083388	C	T	7083388	3	4	37	1	0	0	0	0	1	0	0	0	18018	893	31	1	948	1	ZNF557	19	7083388	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	2578783	7083388	52045595	105	5183										
PNPLA6	10908	genome.wustl.edu	37	chr19	7606555	7606555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ccgatcccaccggggccccgCtgcctggacctacaggtacc	11	19	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:7606555C>T	ENST00000221249.6	+	12	1467	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	PNPLA6_ENST00000545201.2_Silent_p.L346L|PNPLA6_ENST00000450331.3_Silent_p.L346L|PNPLA6_ENST00000414982.3_Silent_p.L394L|PNPLA6_ENST00000600737.1_Silent_p.L385L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	385					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGGGGCCCCGCTGCCTGGACC	0.672																																																	0													4	6	5					19																	7606555		2074	4136	6210	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1036C>T	19.37:g.7606555C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L394	ENST00000221249.6	37	c.1180	CCDS32891.1	19																																																																																			PNPLA6	-	NULL		0.672	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	C	NM_006702		7606555	1	no_errors	ENST00000414982	ensembl	human	known	70_37	silent	SNP	0.958	T	T	7606555	C	T	7606555	2	4	37	1	0	0	0	0	0	0	0	1	12193	796	28	4		4	PNPLA6	19	7606555	Silent	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	523167	7606555	51522428	106	5184										
ZNF737	100129842	genome.wustl.edu	37	chr19	20736569	20736569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cacattcctatataaattccGctgtgcagtgtccaggcaat	7	11	0	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:20736569G>A	ENST00000427401.4	-	2	170	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Missense_Mutation_p.R26W	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TATAAATTCCGCTGTGCAGTG	0.393																																																	0													59	54	56					19																	20736569		692	1590	2282	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.76C>T	19.37:g.20736569G>A	ENSP00000395733:p.Arg26Trp		C9JHM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R26W	ENST00000427401.4	37	c.76	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	g	4.013	-0.000167	0.07819	.	.	ENSG00000237440	ENST00000427401	T	0.03004	4.08	0.819	-1.64	0.08318	.	.	.	.	.	T	0.04048	0.0113	L	0.60957	1.885	0.23298	N	0.99795	B	0.21381	0.055	B	0.17979	0.02	T	0.41840	-0.9486	9	0.56958	D	0.05	.	2.9567	0.05878	0.0:0.0:0.5111:0.4888	.	26	C9JHM3	.	W	26	ENSP00000395733:R26W	ENSP00000395733:R26W	R	-	1	2	ZNF737	20528409	0.003000	0.15002	0.541000	0.28102	0.546000	0.35178	-0.039000	0.12124	0.191000	0.20236	0.194000	0.17425	CGG	ZNF737	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.393	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	G	NM_145289		20736569	-1	no_errors	ENST00000427401	ensembl	human	known	70_37	missense	SNP	0.861	A	A	20736569	G	A	20736569	3	1	37	1	0	0	0	0	1	0	0	0	18156	1086	38	2	1546	2	ZNF737	19	20736569	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	13130014	20736569	38392414	107	5185										
RYR1	6261	genome.wustl.edu	37	chr19	38964397	38964397	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aaggatgccaccaccgagaaGaacaagaagagagggtgagt	14	7	0	5			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:38964397G>C	ENST00000359596.3	+	28	4146	c.4146G>C	c.(4144-4146)aaG>aaC	p.K1382N	RYR1_ENST00000360985.3_Missense_Mutation_p.K1382N|RYR1_ENST00000355481.4_Missense_Mutation_p.K1382N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1382	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCACCGAGAAGAACAAGAAGA	0.667																																																	0													3	2	3					19																	38964397		1499	3018	4517	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4146G>C	19.37:g.38964397G>C	ENSP00000352608:p.Lys1382Asn		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.K1382N	ENST00000359596.3	37	c.4146	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342433	0.41498	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97256	-4.3;-4.31;-4.3	4.75	4.75	0.60458	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000001	D	0.95570	0.8560	M	0.69823	2.125	0.40249	D	0.978049	B;P	0.39326	0.074;0.668	B;B	0.40009	0.02;0.316	D	0.94549	0.7752	10	0.41790	T	0.15	.	9.3678	0.38234	0.1001:0.0:0.8999:0.0	.	1382;1382	P21817-2;P21817	.;RYR1_HUMAN	N	1382	ENSP00000352608:K1382N;ENSP00000347667:K1382N;ENSP00000354254:K1382N	ENSP00000347667:K1382N	K	+	3	2	RYR1	43656237	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.697000	0.47060	2.340000	0.79590	0.448000	0.29417	AAG	RYR1	-	pfscan_B30.2/SPRY		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38964397	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38964397	G	C	38964397	3	2	37	1	0	0	0	0	1	0	0	0	13798	933	33	1	4256	1	RYR1	19	38964397	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	18227828	38964397	20164586	108	5186										
GRIN2D	2906	genome.wustl.edu	37	chr19	48908592	48908592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cgcccagaaccgcacccaccGcggcgagagtctgcataggt	12	16	1	2	rs369036985		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:48908592G>A	ENST00000263269.3	+	3	1155	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCACCCACCGCGGCGAGAGT	0.622																																																	0								G	HIS/ARG	1,4399		0,1,2199	14	16	16		1067	4.3	1	19		16	0,8586		0,0,4293	no	missense	GRIN2D	NM_000836.2	29	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/1337	48908592	1,12985	2200	4293	6493	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1067G>A	19.37:g.48908592G>A	ENSP00000263269:p.Arg356His			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R356H	ENST00000263269.3	37	c.1067	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271301	0.59649	2.27E-4	0.0	ENSG00000105464	ENST00000263269	T	0.15834	2.39	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.15912	0.0383	L	0.34521	1.04	0.25085	N	0.990892	D	0.62365	0.991	P	0.46299	0.511	T	0.07501	-1.0769	10	0.46703	T	0.11	.	10.1241	0.42639	0.0:0.0:0.676:0.324	.	356	O15399	NMDE4_HUMAN	H	356	ENSP00000263269:R356H	ENSP00000263269:R356H	R	+	2	0	GRIN2D	53600404	0.229000	0.23729	0.998000	0.56505	0.908000	0.53690	1.297000	0.33400	2.116000	0.64780	0.561000	0.74099	CGC	GRIN2D	-	NULL		0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	G			48908592	1	no_errors	ENST00000263269	ensembl	human	known	70_37	missense	SNP	0.525	A	A	48908592	G	A	48908592	3	1	37	1	0	0	0	0	1	0	0	0	6802	1087	38	2	1073	2	GRIN2D	19	48908592	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	9944195	48908592	10220391	109	5187										
POLD1	5424	genome.wustl.edu	37	chr19	50906837	50906837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	accttccgtacctcatctctCgggcccagaccctcaaggtg	8	17	3	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:50906837C>T	ENST00000440232.2	+	10	1278	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	POLD1_ENST00000599857.1_Missense_Mutation_p.R409W|POLD1_ENST00000595904.1_Missense_Mutation_p.R409W	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	409					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTCATCTCTCGGGCCCAGAC	0.637								DNA polymerases (catalytic subunits)																																									0													143	130	134					19																	50906837		2203	4300	6503	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1225C>T	19.37:g.50906837C>T	ENSP00000406046:p.Arg409Trp		Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.R409W	ENST00000440232.2	37	c.1225	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582814	0.65992	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.38077	1.16	3.84	0.0544	0.14311	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.059954	0.64402	N	0.000007	T	0.61850	0.2380	M	0.93375	3.41	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62666	-0.6806	10	0.87932	D	0	-27.9098	6.1912	0.20526	0.4164:0.486:0.0:0.0976	.	409;409	E7EVW0;P28340	.;DPOD1_HUMAN	W	409;410	ENSP00000406046:R409W	ENSP00000366129:R410W	R	+	1	2	POLD1	55598649	0.999000	0.42202	0.986000	0.45419	0.996000	0.88848	1.115000	0.31209	0.364000	0.24374	0.561000	0.74099	CGG	POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.637	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	C			50906837	1	no_errors	ENST00000440232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50906837	C	T	50906837	3	4	37	1	0	0	0	0	1	0	0	0	12214	875	31	1	1259	1	POLD1	19	50906837	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	1998245	50906837	8222146	110	5188										
SIGLEC12	89858	genome.wustl.edu	37	chr19	52001468	52001468	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctggcagggggattgctgtcGacagcacagacaaggtgcag	16	9	0	1	rs201299127		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:52001468G>A	ENST00000291707.3	-	5	1264	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	SIGLEC12_ENST00000598614.1_Silent_p.V285V	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	403	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATTGCTGTCGACAGCACAGA	0.617													g|||	1	0.000199681	0	0.0014	5008	,	,		18096	0		0	False		,,,				2504	0																0													44	40	42					19																	52001468		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1209C>T	19.37:g.52001468G>A			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V403	ENST00000291707.3	37	c.1209	CCDS12833.1	19																																																																																			SIGLEC12	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.617	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	G	NM_053003		52001468	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	silent	SNP	0.003	A	A	52001468	G	A	52001468	2	1	37	1	0	0	0	0	0	0	0	1	14338	1045	37	1		1	SIGLEC12	19	52001468	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	1094631	52001468	7127515	111	5189										
VN1R2	317701	genome.wustl.edu	37	chr19	53761980	53761980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	atatgttcctttactttaggGgatacaagccaagatccaca	7	9	0	1	rs139933646	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:53761980G>T	ENST00000341702.3	+	1	436	c.352G>T	c.(352-354)Gga>Tga	p.G118*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	118					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTACTTTAGGGGATACAAGCC	0.428																																																	0													81	86	85					19																	53761980		2203	4300	6503	SO:0001587	stop_gained	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.352G>T	19.37:g.53761980G>T	ENSP00000351244:p.Gly118*		A1L411|Q8TDU4	Nonsense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.G118*	ENST00000341702.3	37	c.352	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398541	0.42512	.	.	ENSG00000196131	ENST00000341702	.	.	.	2.93	-3.73	0.04398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.9334	0.13928	0.4118:0.152:0.4361:0.0	.	.	.	.	X	118	.	ENSP00000351244:G118X	G	+	1	0	VN1R2	58453792	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.124000	0.10595	-0.622000	0.05626	-0.193000	0.12794	GGA	VN1R2	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1		0.428	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	G	NM_173856		53761980	1	no_errors	ENST00000341702	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	53761980	G	T	53761980	4	4	37	1	0	0	0	0	0	1	0	0	17210	1233	43	4	354	4	VN1R2	19	53761980	Nonsense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	1760512	53761980	5367003	112	5190										
ZNF135	7694	genome.wustl.edu	37	chr19	58578900	58578900	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	agcatctgcgaatccacactGgggagaaaccctatcagtgt	10	11	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:58578900G>C	ENST00000313434.5	+	5	1149	c.1048G>C	c.(1048-1050)Ggg>Cgg	p.G350R	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Missense_Mutation_p.G308R|ZNF135_ENST00000401053.4_Missense_Mutation_p.G374R|ZNF135_ENST00000359978.6_Missense_Mutation_p.G362R|ZNF135_ENST00000439855.2_Missense_Mutation_p.G350R|ZNF135_ENST00000511556.1_Missense_Mutation_p.G362R	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	350					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATCCACACTGGGGAGAAACC	0.572																																																	0													52	45	47					19																	58578900		2203	4300	6503	SO:0001583	missense	7694			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1048G>C	19.37:g.58578900G>C	ENSP00000321406:p.Gly350Arg		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G374R	ENST00000313434.5	37	c.1120		19	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306762	0.40795	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;4.72	3.1	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42877	0.1222	L	0.50919	1.6	0.37456	D	0.915027	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50541	-0.8816	9	0.72032	D	0.01	.	11.9961	0.53204	0.0:0.0:1.0:0.0	.	362;350;362	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	R	362;374;362;350;350;362;308	ENSP00000441410:G374R;ENSP00000369437:G362R;ENSP00000444828:G350R;ENSP00000321406:G350R;ENSP00000422074:G362R;ENSP00000427691:G308R	ENSP00000321406:G350R	G	+	1	0	ZNF135	63270712	1.000000	0.71417	0.985000	0.45067	0.092000	0.18411	4.846000	0.62860	1.736000	0.51660	0.557000	0.71058	GGG	ZNF135	-	pfscan_Znf_C2H2		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	G	NM_003436		58578900	1	no_errors	ENST00000401053	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58578900	G	C	58578900	3	2	37	1	0	0	0	0	1	0	0	0	17755	1348	47	4	1251	4	ZNF135	19	58578900	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	4816920	58578900	550083	113	5191										
SOX12	6666	genome.wustl.edu	37	chr20	306784	306784	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cacaacgccgagatctccaaGcgcctgggccgccgctggca	12	17	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:306784G>C	ENST00000342665.2	+	1	546	c.216G>C	c.(214-216)aaG>aaC	p.K72N	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.K72N	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	72					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AGATCTCCAAGCGCCTGGGCC	0.642																																																	0													28	26	26					20																	306784		2200	4297	6497	SO:0001583	missense	6666			U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.216G>C	20.37:g.306784G>C	ENSP00000347646:p.Lys72Asn		Q5D038|Q9NUD4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.K72N	ENST00000342665.2	37	c.216	CCDS12995.1	20	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587255	0.66105	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.98762	-5.12;-5.12	3.63	2.67	0.31697	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.156238	0.25114	U	0.033033	D	0.99083	0.9685	H	0.98559	4.265	0.50171	D	0.999856	D	0.58620	0.983	P	0.52343	0.696	D	0.98748	1.0719	10	0.87932	D	0	.	8.718	0.34423	0.118:0.0:0.882:0.0	.	72	O15370	SOX12_HUMAN	N	72	ENSP00000441671:K72N;ENSP00000347646:K72N	ENSP00000347646:K72N	K	+	3	2	SOX12	254784	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.886000	0.75611	0.719000	0.32188	0.313000	0.20887	AAG	SOX12	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily		0.642	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	HGNC	protein_coding	OTTHUMT00000077435.2	G	NM_006943		306784	1	no_errors	ENST00000342665	ensembl	human	known	70_37	missense	SNP	1.000	C	C	306784	G	C	306784	3	2	37	1	0	0	0	0	1	0	0	0	14973	962	34	4	218	4	SOX12	20	306784	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		306784	62718736	114	5192										
HAO1	54363	genome.wustl.edu	37	chr20	7915153	7915153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctcacagtggcaagctcgccGtccacatgagccatgcgctg	11	15	1	1	rs138052675		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:7915153G>A	ENST00000378789.3	-	2	318	c.267C>T	c.(265-267)gaC>gaT	p.D89D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	89	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAAGCTCGCCGTCCACATGAG	0.522																																																	0								G		0,4406		0,0,2203	103	94	97		267	-5.2	0.6	20	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HAO1	NM_017545.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		89/371	7915153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.267C>T	20.37:g.7915153G>A			Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.D89	ENST00000378789.3	37	c.267	CCDS13100.1	20																																																																																			HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.522	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	G			7915153	-1	no_errors	ENST00000378789	ensembl	human	known	70_37	silent	SNP	0.946	A	A	7915153	G	A	7915153	2	1	37	1	0	0	0	0	0	0	0	1	6971	1136	40	2		2	HAO1	20	7915153	Silent	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	7608369	7915153	55110367	115	5193										
NKX2-2	4821	genome.wustl.edu	37	chr20	21494232	21494232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	cggaccttcggccacagagcCctcctcatcgttggtgtccg	11	16	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:21494232C>T	ENST00000377142.4	-	1	432	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	26					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCACAGAGCCCTCCTCATCG	0.627																																																	0													51	50	50					20																	21494232		2203	4300	6503	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.76G>A	20.37:g.21494232C>T	ENSP00000366347:p.Gly26Ser			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G26S	ENST00000377142.4	37	c.76	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696650	0.68386	.	.	ENSG00000125820	ENST00000377142	D	0.91068	-2.78	4.75	3.79	0.43588	.	0.171655	0.38217	N	0.001772	D	0.85575	0.5728	L	0.53249	1.67	0.58432	D	0.999992	B	0.09022	0.002	B	0.08055	0.003	T	0.76948	-0.2770	10	0.02654	T	1	.	13.8224	0.63331	0.1545:0.8455:0.0:0.0	.	26	O95096	NKX22_HUMAN	S	26	ENSP00000366347:G26S	ENSP00000366347:G26S	G	-	1	0	NKX2-2	21442232	1.000000	0.71417	0.963000	0.40424	0.992000	0.81027	5.648000	0.67930	0.967000	0.38186	0.563000	0.77884	GGC	NKX2-2	-	NULL		0.627	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	C			21494232	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	missense	SNP	0.995	T	T	21494232	C	T	21494232	3	4	37	1	0	0	0	0	1	0	0	0	10474	623	22	4	753	4	NKX2-2	20	21494232	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	13579079	21494232	41531288	116	5194										
XKR7	343702	genome.wustl.edu	37	chr20	30585091	30585091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gacagaggggcctgtcatccGgattgacttgcctcgcaaga	13	11	1	3			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:30585091G>A	ENST00000562532.2	+	3	1745	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	524						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTGTCATCCGGATTGACTTG	0.642																																																	0													45	51	49					20																	30585091		2203	4299	6502	SO:0001583	missense	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1571G>A	20.37:g.30585091G>A	ENSP00000477059:p.Arg524Gln		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R524Q	ENST00000562532.2	37	c.1571	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835204	0.91117	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	L	0.61218	1.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.79317	-0.1853	9	0.72032	D	0.01	-3.6123	16.7017	0.85351	0.0:0.0:1.0:0.0	.	524	Q5GH72	XKR7_HUMAN	Q	524	.	ENSP00000217299:R524Q	R	+	2	0	XKR7	30048752	0.454000	0.25728	1.000000	0.80357	0.991000	0.79684	2.356000	0.44116	2.518000	0.84900	0.561000	0.74099	CGG	XKR7	-	NULL		0.642	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	G	NM_001011718		30585091	1	no_errors	ENST00000217299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30585091	G	A	30585091	3	1	37	1	0	0	0	0	1	0	0	0	17467	1116	39	2	1581	2	XKR7	20	30585091	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	9090859	30585091	32440429	117	5195										
PTPRT	11122	genome.wustl.edu	37	chr20	41385239	41385239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	agcgcctgtggttgaccacaCgggtgaccatcagggccgtg	15	12	1	2	rs377294483		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:41385239C>T	ENST00000373187.1	-	6	721	c.722G>A	c.(721-723)cGt>cAt	p.R241H	PTPRT_ENST00000373190.1_Missense_Mutation_p.R241H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R241H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R241H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R241H|PTPRT_ENST00000373198.4_Missense_Mutation_p.R241H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R241H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	241	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTGACCACACGGGTGACCAT	0.582																																																	0								C	HIS/ARG,HIS/ARG	1,4115		0,1,2057	43	44	44		722,722	5.8	1	20		44	0,8390		0,0,4195	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	29,29	0,1,6252	TT,TC,CC		0.0,0.0243,0.0080	probably-damaging,probably-damaging	241/1442,241/1461	41385239	1,12505	2058	4195	6253	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.722G>A	20.37:g.41385239C>T	ENSP00000362283:p.Arg241His		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R241H	ENST00000373187.1	37	c.722	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.235299	0.95207	2.43E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.76494	0.999;0.998	D;P	0.65773	0.938;0.791	T	0.40308	-0.9570	10	0.87932	D	0	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	241;241	O14522-1;O14522	.;PTPRT_HUMAN	H	241	ENSP00000362286:R241H;ENSP00000362283:R241H;ENSP00000362289:R241H;ENSP00000348408:R241H;ENSP00000362294:R241H;ENSP00000362280:R241H;ENSP00000362297:R241H	ENSP00000348408:R241H	R	-	2	0	PTPRT	40818653	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	5.785000	0.68998	2.720000	0.93068	0.655000	0.94253	CGT	PTPRT	-	pfscan_Ig-like		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			41385239	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	0.998	T	T	41385239	C	T	41385239	3	4	37	1	0	0	0	0	1	0	0	0	12842	536	19	2	3768	2	PTPRT	20	41385239	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	10800148	41385239	21640281	118	5196										
GNAS	2778	genome.wustl.edu	37	chr20	57429140	57429140	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctcccgccgcgaacgcgcctCccctctgggtcccaggcgcc	11	22	1	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:57429140C>G	ENST00000371100.4	+	1	1372	c.820C>G	c.(820-822)Ccc>Gcc	p.P274A	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.P274A|GNAS_ENST00000371099.2_Missense_Mutation_p.P274A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.L210L	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAACGCGCCTCCCCTCTGGGT	0.677			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													12	14	14					20																	57429140		1859	4029	5888	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.820C>G	20.37:g.57429140C>G	ENSP00000360141:p.Pro274Ala		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.P274A	ENST00000371100.4	37	c.820	CCDS46622.1	20	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159775	0.09287	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.91180	-2.8;-2.78	3.77	2.8	0.32819	.	18.536000	0.00166	N	0.000013	D	0.85725	0.5763	N	0.24115	0.695	0.80722	D	1	B	0.21452	0.056	B	0.12837	0.008	T	0.69480	-0.5134	10	0.54805	T	0.06	.	9.2911	0.37786	0.0:0.7795:0.2205:0.0	.	274	Q5JWF2	GNAS1_HUMAN	A	274	ENSP00000360141:P274A;ENSP00000360143:P274A	ENSP00000360140:P274A	P	+	1	0	GNAS	56862535	0.664000	0.27457	0.944000	0.38274	0.020000	0.10135	0.859000	0.27858	1.141000	0.42275	0.561000	0.74099	CCC	GNAS	-	NULL		0.677	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	C	NM_000516		57429140	1	no_errors	ENST00000371100	ensembl	human	putative	70_37	missense	SNP	0.992	G	G	57429140	C	G	57429140	3	3	37	1	0	0	0	0	1	0	0	0	6529	855	30	1	1564	1	GNAS	20	57429140	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	16043901	57429140	5596380	119	5197										
H1F0	3005	genome.wustl.edu	37	chr22	38201875	38201875	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	aagaagtcagtggccttcaaGaagaccaagaaggaaatcaa	10	7	3	4			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr22:38201875G>C	ENST00000340857.2	+	1	762	c.324G>C	c.(322-324)aaG>aaC	p.K108N	GCAT_ENST00000248924.6_5'Flank|GCAT_ENST00000323205.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	108					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					TGGCCTTCAAGAAGACCAAGA	0.577																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)												0													63	70	67					22																	38201875		2203	4300	6503	SO:0001583	missense	3005			X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"Histones / Replication-independent"	4714	protein-coding gene	gene with protein product	"H1.0, H1(0), H1-0"	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.324G>C	22.37:g.38201875G>C	ENSP00000344504:p.Lys108Asn		B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K108N	ENST00000340857.2	37	c.324	CCDS13956.1	22	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458775	0.63401	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.08282	3.11	5.27	5.27	0.74061	.	1.128570	0.06713	N	0.773633	T	0.09949	0.0244	L	0.38175	1.15	0.44110	D	0.996888	P	0.39480	0.675	B	0.26864	0.074	T	0.49771	-0.8904	10	0.62326	D	0.03	.	19.2929	0.94110	0.0:0.0:1.0:0.0	.	108	P07305	H10_HUMAN	N	108;91	ENSP00000344504:K108N	ENSP00000344504:K108N	K	+	3	2	H1F0	36531821	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.086000	0.50159	2.636000	0.89361	0.655000	0.94253	AAG	H1F0	-	NULL		0.577	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1F0	HGNC	protein_coding	OTTHUMT00000319453.1	G	NM_005318		38201875	1	no_errors	ENST00000340857	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38201875	G	C	38201875	3	2	37	1	0	0	0	0	1	0	0	0	6940	933	33	1	326	1	H1F0	22	38201875	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		38201875	13102691	120	5198										
TYMP	1890	genome.wustl.edu	37	chr22	50967988	50967988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gaagcccctgatgtccgcttCgctcaggcggcctccgtctc	11	17	2	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr22:50967988C>T	ENST00000252029.3	-	2	313	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	TYMP_ENST00000395680.1_Missense_Mutation_p.E51K|TYMP_ENST00000395681.1_Missense_Mutation_p.E51K|TYMP_ENST00000395678.3_Missense_Mutation_p.E51K	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	51					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	ATGTCCGCTTCGCTCAGGCGG	0.682																																																	0													38	41	40					22																	50967988		2202	4300	6502	SO:0001583	missense	1890			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.151G>A	22.37:g.50967988C>T	ENSP00000252029:p.Glu51Lys		A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.E51K	ENST00000252029.3	37	c.151	CCDS14096.1	22	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325840	0.41197	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	4.78	3.76	0.43208	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.621428	0.15704	N	0.248759	T	0.79805	0.4509	N	0.12663	0.25	0.20703	N	0.999861	P;P;P;P	0.48640	0.812;0.913;0.913;0.913	B;B;B;B	0.39971	0.315;0.208;0.208;0.208	T	0.72858	-0.4165	10	0.02654	T	1	-13.9946	8.8339	0.35100	0.0:0.8943:0.0:0.1057	.	51;51;51;51	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	K	51	ENSP00000379037:E51K;ENSP00000379038:E51K;ENSP00000252029:E51K;ENSP00000379036:E51K;ENSP00000395875:E51K	ENSP00000252029:E51K	E	-	1	0	TYMP	49314854	0.006000	0.16342	0.402000	0.26371	0.740000	0.42216	1.027000	0.30115	1.024000	0.39682	0.448000	0.29417	GAA	TYMP	-	pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk		0.682	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	HGNC	protein_coding	OTTHUMT00000317081.1	C	NM_001953		50967988	-1	no_errors	ENST00000252029	ensembl	human	known	70_37	missense	SNP	0.290	T	T	50967988	C	T	50967988	3	4	37	1	0	0	0	0	1	0	0	0	16842	893	31	1	1333	1	TYMP	22	50967988	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	12766113	50967988	336578	121	5199										
USP9X	8239	genome.wustl.edu	37	chrX	41055965	41055965	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ctgaagttcttctcaataatGaaattgattggcttaaaaga	7	5	2	4			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:41055965G>A	ENST00000324545.8	+	28	4840	c.4207G>A	c.(4207-4209)Gaa>Aaa	p.E1403K	USP9X_ENST00000378308.2_Missense_Mutation_p.E1403K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1403					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCTCAATAATGAAATTGATTG	0.264																																					Ovarian(172;1807 2695 35459 49286)												0													43	37	38					X																	41055965		1843	4123	5966	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4207G>A	X.37:g.41055965G>A	ENSP00000316357:p.Glu1403Lys		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E1403K	ENST00000324545.8	37	c.4207	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.261205	0.95368	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66638	-0.22;-0.22	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.80743	-0.1246	10	0.27785	T	0.31	.	18.1086	0.89528	0.0:0.0:1.0:0.0	.	1403;1403	Q93008-1;Q93008	.;USP9X_HUMAN	K	1403	ENSP00000367558:E1403K;ENSP00000316357:E1403K	ENSP00000316357:E1403K	E	+	1	0	USP9X	40940909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.300000	0.77407	0.544000	0.68410	GAA	USP9X	-	NULL		0.264	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41055965	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41055965	G	A	41055965	3	1	37	1	0	0	0	0	1	0	0	0	17121	1291	45	1	4313	1	USP9X	23	41055965	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09		41055965	114214595	122	5200										
RBM10	8241	genome.wustl.edu	37	chrX	47040962	47040962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	tgtcgatgcaggctttctctCgcgcccagcctggtgctgct	12	14	1	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:47040962C>T	ENST00000377604.3	+	14	2234	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	RBM10_ENST00000329236.7_Missense_Mutation_p.R420C|RBM10_ENST00000345781.6_Missense_Mutation_p.R421C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	498					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGCTTTCTCTCGCGCCCAGCC	0.627													C|||	1	0.000264901	0	0	3775	,	,		12657	0		0.001	False		,,,				2504	0				Melanoma(171;120 2705 19495 39241)												0													31	26	28					X																	47040962		2203	4298	6501	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1492C>T	X.37:g.47040962C>T	ENSP00000366829:p.Arg498Cys		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R498C	ENST00000377604.3	37	c.1492	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990556	0.54041	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.18502	2.89;2.21;2.47	4.65	4.65	0.58169	.	0.455627	0.23273	N	0.049985	T	0.20007	0.0481	L	0.36672	1.1	0.49483	D	0.999795	D;D;D;D;D	0.64830	0.987;0.975;0.989;0.986;0.994	P;B;P;P;P	0.50270	0.629;0.332;0.533;0.636;0.454	T	0.00731	-1.1590	10	0.38643	T	0.18	-9.8456	11.9741	0.53081	0.0:1.0:0.0:0.0	.	421;563;497;420;498	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	C	498;420;421	ENSP00000366829:R498C;ENSP00000328848:R420C;ENSP00000329659:R421C	ENSP00000328848:R420C	R	+	1	0	RBM10	46925906	0.821000	0.29204	0.944000	0.38274	0.526000	0.34562	2.410000	0.44592	2.312000	0.78011	0.525000	0.51046	CGC	RBM10	-	NULL		0.627	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	C	NM_005676		47040962	1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	0.942	T	T	47040962	C	T	47040962	3	4	37	1	0	0	0	0	1	0	0	0	13141	884	31	1	1542	1	RBM10	23	47040962	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	5984997	47040962	108229598	123	5201										
VSIG4	11326	genome.wustl.edu	37	chrX	65242172	65242172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	gaactgtgtccagcaggcggGcgtagttgccattgatctgg	15	9	1	1			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:65242172G>T	ENST00000374737.4	-	8	1241	c.1133C>A	c.(1132-1134)gCc>gAc	p.A378D	VSIG4_ENST00000412866.2_Missense_Mutation_p.A284D|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	378					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCAGGCGGGCGTAGTTGCC	0.507																																																	0													89	72	78					X																	65242172		2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1133C>A	X.37:g.65242172G>T	ENSP00000363869:p.Ala378Asp		Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.A378D	ENST00000374737.4	37	c.1133	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	G	9.894	1.205099	0.22205	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.36340	1.26;1.7	4.55	4.55	0.56014	.	0.378220	0.19225	N	0.119572	T	0.31231	0.0790	L	0.40543	1.245	0.45502	D	0.998464	P;B	0.35908	0.527;0.392	B;B	0.37989	0.262;0.134	T	0.07121	-1.0789	10	0.35671	T	0.21	-2.5488	11.6876	0.51497	0.0:0.0:1.0:0.0	.	284;378	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	D	378;284	ENSP00000363869:A378D;ENSP00000394143:A284D	ENSP00000363869:A378D	A	-	2	0	VSIG4	65158897	0.004000	0.15560	0.004000	0.12327	0.002000	0.02628	0.518000	0.22847	2.240000	0.73641	0.513000	0.50165	GCC	VSIG4	-	NULL		0.507	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	G	NM_007268		65242172	-1	no_errors	ENST00000374737	ensembl	human	known	70_37	missense	SNP	0.006	T	T	65242172	G	T	65242172	3	4	37	1	0	0	0	0	1	0	0	0	17256	1203	42	4	70	4	VSIG4	23	65242172	Missense_Mutation	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	18201210	65242172	90028388	124	5202										
LONRF3	79836	genome.wustl.edu	37	chrX	118124432	118124432	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ttcttgctttctaaatcgcaGatcctcccactgatcagggg	8	12	3	2			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:118124432G>A	ENST00000371628.3	+	5	1355		c.e5-1		LONRF3_ENST00000472173.1_Splice_Site|LONRF3_ENST00000422289.2_Splice_Site|LONRF3_ENST00000304778.7_Splice_Site	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3								ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTAAATCGCAGATCCTCCCAC	0.478																																																	0													236	164	188					X																	118124432		2203	4300	6503	SO:0001630	splice_region_variant	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1325-1G>A	X.37:g.118124432G>A			Q5JPN6|Q8NB00|Q9H647	Splice_Site	SNP	-	e5-1	ENST00000371628.3	37	c.1325-1	CCDS35374.1	X	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740818	0.30865	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000439603;ENST00000422289	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.35	0.74376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LONRF3	118008460	1.000000	0.71417	0.997000	0.53966	0.119000	0.20118	5.287000	0.65645	2.357000	0.79964	0.600000	0.82982	.	LONRF3	-	-		0.478	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	G	NM_024778	Intron	118124432	1	no_errors	ENST00000371628	ensembl	human	known	70_37	splice_site	SNP	0.975	A	A	118124432	G	A	118124432	5	1	37	1	0	0	0	0	0	0	1	0	8919	956	33	1	1342	1	LONRF3	23	118124432	Splice_Site	SNP	G	TCGA-C5-A3HD-01B-11D-A20U-09	52882260	118124432	37146128	125	5203										
SRPK3	26576	genome.wustl.edu	37	chrX	153050593	153050593	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.317460317460317	40	4.17873940999572e-11	3.15541781450872	5.14964187327824	2.45322624451946	0.296918158706524	0.559243910573453	27	ccccccagccttcgccctctCaggccgctattcccgggagt	9	20	1	0			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:153050593C>T	ENST00000370101.3	+	14	1530	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	SRPK3_ENST00000370108.3_Missense_Mutation_p.S462L|SRPK3_ENST00000489426.1_Missense_Mutation_p.S562L|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000393786.3_Missense_Mutation_p.S461L|SRPK3_ENST00000370104.1_Missense_Mutation_p.S494L|SRPK3_ENST00000370100.1_Missense_Mutation_p.S420L	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCGCCCTCTCAGGCCGCTAT	0.657																																					Esophageal Squamous(167;766 3400 32156)												0													36	34	35					X																	153050593		2198	4299	6497	SO:0001583	missense	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1484C>T	X.37:g.153050593C>T	ENSP00000359119:p.Ser495Leu		Q13583|Q4F970|Q562F5|Q9UM62	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,pfscan_Prot_kinase_cat_dom	p.S495L	ENST00000370101.3	37	c.1484	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036669	0.93630	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000380	T	0.66790	0.2825	L	0.38175	1.15	0.58432	D	0.999999	P;P;P;P;D	0.56287	0.915;0.915;0.915;0.931;0.975	B;B;B;P;P	0.56612	0.314;0.393;0.393;0.528;0.802	T	0.68349	-0.5432	10	0.48119	T	0.1	-7.2726	16.3006	0.82807	0.0:1.0:0.0:0.0	.	419;494;461;495;562	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	L	562;461;494;462;495;420	ENSP00000420058:S562L;ENSP00000377376:S461L;ENSP00000359122:S494L;ENSP00000359126:S462L;ENSP00000359119:S495L;ENSP00000359118:S420L	ENSP00000359118:S420L	S	+	2	0	SRPK3	152703787	0.993000	0.37304	0.927000	0.36925	0.964000	0.63967	3.141000	0.50593	2.102000	0.63906	0.436000	0.28706	TCA	SRPK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.657	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	C	NM_014370		153050593	1	no_errors	ENST00000370101	ensembl	human	known	70_37	missense	SNP	0.997	T	T	153050593	C	T	153050593	3	4	37	1	0	0	0	0	1	0	0	0	15191	838	29	1	1538	1	SRPK3	23	153050593	Missense_Mutation	SNP	C	TCGA-C5-A3HD-01B-11D-A20U-09	34926161	153050593	2219967	126	5204										
ATP13A2	23400	genome.wustl.edu	37	chr1	17312811	17312811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cttggaggcccgcttgggccGgaggcggcgcaggcaggcgg	21	12	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:17312811G>A	ENST00000326735.8	-	29	3481	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	ATP13A2_ENST00000341676.5_Missense_Mutation_p.P1049L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R1145W			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1150					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CGCTTGGGCCGGAGGCGGCGC	0.716																																																	0													7	10	9					1																	17312811		2121	4195	6316	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3448C>T	1.37:g.17312811G>A	ENSP00000327214:p.Arg1150Trp		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.R1150W	ENST00000326735.8	37	c.3448	CCDS175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.09|15.09	2.729150|2.729150	0.48833|0.48833	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000341676;ENST00000502418|ENST00000326735;ENST00000452699	D;D|T;T	0.97209|0.41758	-3.28;-4.29|0.99;0.99	4.61|4.61	2.52|2.52	0.30459|0.30459	.|.	.|0.383885	.|0.21743	.|N	.|0.069797	T|T	0.42040|0.42040	0.1185|0.1185	L|L	0.29908|0.29908	0.895|0.895	0.36256|0.36256	D|D	0.854257|0.854257	B|D;D	0.10296|0.76494	0.003|0.999;0.998	B|P;P	0.06405|0.58970	0.002|0.849;0.696	T|T	0.46456|0.46456	-0.9190|-0.9190	9|10	0.09084|0.38643	T|T	0.74|0.18	-31.8286|-31.8286	8.3183|8.3183	0.32113|0.32113	0.0972:0.0:0.7417:0.1611|0.0972:0.0:0.7417:0.1611	.|.	1049|1145;1150	Q5JXY1|Q6S9Z9;Q9NQ11	.|.;AT132_HUMAN	L|W	1049;289|1150;1145	ENSP00000341115:P1049L;ENSP00000423065:P289L|ENSP00000327214:R1150W;ENSP00000413307:R1145W	ENSP00000341115:P1049L|ENSP00000327214:R1150W	P|R	-|-	2|1	0|2	ATP13A2|ATP13A2	17185398|17185398	0.967000|0.967000	0.33354|0.33354	0.986000|0.986000	0.45419|0.45419	0.849000|0.849000	0.48306|0.48306	1.873000|1.873000	0.39558|0.39558	1.113000|1.113000	0.41760|0.41760	0.591000|0.591000	0.81541|0.81541	CCG|CGG	ATP13A2	-	NULL		0.716	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17312811	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	0.924	A	A	17312811	G	A	17312811	3	1	38	1	0	0	0	0	1	0	0	0	1125	1116	39	2	334	2	ATP13A2	1	17312811	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		17312811	231937810	1	5205										
UBR4	23352	genome.wustl.edu	37	chr1	19513763	19513763	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtgctctgggccataatgctCaaggctgcaggggggccatc	15	11	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:19513763C>G	ENST00000375254.3	-	13	1554	c.1527G>C	c.(1525-1527)ttG>ttC	p.L509F	UBR4_ENST00000375226.2_Missense_Mutation_p.L509F|UBR4_ENST00000375267.2_Missense_Mutation_p.L509F|UBR4_ENST00000375217.2_Missense_Mutation_p.L509F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	509					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCATAATGCTCAAGGCTGCAG	0.473																																																	0													88	79	82					1																	19513763		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1527G>C	1.37:g.19513763C>G	ENSP00000364403:p.Leu509Phe		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L509F	ENST00000375254.3	37	c.1527	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878771	0.17395	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.32515	1.47;1.47;1.45;1.45	5.97	3.96	0.45880	.	0.000000	0.64402	D	0.000001	T	0.33381	0.0861	N	0.20685	0.6	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.06250	-1.0837	10	0.19590	T	0.45	.	8.8414	0.35144	0.0:0.6354:0.2888:0.0758	.	509	Q5T4S7	UBR4_HUMAN	F	509	ENSP00000364403:L509F;ENSP00000364416:L509F;ENSP00000364365:L509F;ENSP00000364374:L509F	ENSP00000364365:L509F	L	-	3	2	UBR4	19386350	1.000000	0.71417	0.967000	0.41034	0.828000	0.46876	0.812000	0.27211	1.481000	0.48307	0.655000	0.94253	TTG	UBR4	-	NULL		0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19513763	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19513763	C	G	19513763	3	3	38	1	0	0	0	0	1	0	0	0	16935	825	29	1	14400	1	UBR4	1	19513763	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2200952	19513763	229736858	2	5206										
ZNF683	257101	genome.wustl.edu	37	chr1	26694260	26694260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggccatgagcatccaccatgTctggaagtggtctgcaggct	13	11	2	1	rs10794532	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:26694260T>C	ENST00000436292.1	-	3	263	c.143A>G	c.(142-144)gAc>gGc	p.D48G	ZNF683_ENST00000403843.1_Missense_Mutation_p.D48G|ZNF683_ENST00000349618.3_Missense_Mutation_p.D48G|ZNF683_ENST00000374204.1_Missense_Mutation_p.D48G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	48			D -> G (in dbSNP:rs10794532).		natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ATCCACCATGTCTGGAAGTGG	0.652													T|||	1726	0.344649	0.2428	0.2536	5008	,	,		15531	0.5794		0.1879	False		,,,				2504	0.4663																0								T	GLY/ASP,GLY/ASP	960,3446		101,758,1344	24	21	22		143,143	0.2	0	1	dbSNP_120	22	1621,6977		155,1311,2833	yes	missense,missense	ZNF683	NM_001114759.1,NM_173574.2	94,94	256,2069,4177	CC,CT,TT		18.8532,21.7885,19.8477	probably-damaging,probably-damaging	48/505,48/505	26694260	2581,10423	2203	4299	6502	SO:0001583	missense	257101			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.143A>G	1.37:g.26694260T>C	ENSP00000388792:p.Asp48Gly		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D48G	ENST00000436292.1	37	c.143		1	683	0.31272893772893773	120	0.24390243902439024	93	0.2569060773480663	325	0.5681818181818182	145	0.19129287598944592	T	18.39	3.613996	0.66672	0.217885	0.188532	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T	0.31510	2.78;2.78;2.71;2.71;1.87;1.88;1.49;1.51	4.0	0.232	0.15381	.	0.164799	0.28841	N	0.013975	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	D;B	0.89917	1.0;0.137	D;B	0.83275	0.996;0.022	T	0.44817	-0.9303	9	0.59425	D	0.04	-13.15	3.1562	0.06505	0.0:0.2402:0.2195:0.5403	rs10794532;rs57949490;rs10794532	48;48	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	G	48;48;48;48;56;48;56;48	ENSP00000384782:D48G;ENSP00000388792:D48G;ENSP00000363320:D48G;ENSP00000344095:D48G;ENSP00000411289:D56G;ENSP00000411290:D48G;ENSP00000391584:D56G;ENSP00000401961:D48G	ENSP00000344095:D48G	D	-	2	0	ZNF683	26566847	0.030000	0.19436	0.037000	0.18230	0.746000	0.42486	1.344000	0.33941	0.605000	0.29947	0.379000	0.24179	GAC	ZNF683	-	NULL		0.652	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	HGNC	protein_coding	OTTHUMT00000009794.2	T	NM_173574		26694260	-1	no_errors	ENST00000403843	ensembl	human	known	70_37	missense	SNP	0.002	C	C	26694260	T	C	26694260	3	2	38	1	0	0	0	0	1	0	0	0	18120	1667	58	5	1387	5	ZNF683	1	26694260	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	7180497	26694260	222556361	3	5207										
MAST2	23139	genome.wustl.edu	37	chr1	46500934	46500934	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctcacccagaagtgagccaGagtgtggcccctaaaggagc	12	13	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:46500934G>C	ENST00000361297.2	+	29	4876	c.4593G>C	c.(4591-4593)caG>caC	p.Q1531H	MAST2_ENST00000372009.2_Missense_Mutation_p.Q1341H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AAGTGAGCCAGAGTGTGGCCC	0.602																																																	0													29	33	32					1																	46500934		2093	4218	6311	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4593G>C	1.37:g.46500934G>C	ENSP00000354671:p.Gln1531His			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.Q1531H	ENST00000361297.2	37	c.4593	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	g	2.744	-0.261549	0.05791	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.63913	-0.02;-0.07	4.82	2.76	0.32466	.	0.629264	0.13493	N	0.383847	T	0.41119	0.1145	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26916	-1.0089	10	0.41790	T	0.15	-8.2246	8.324	0.32145	0.1348:0.1551:0.7101:0.0	.	1341;1531	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1531;1341;218	ENSP00000354671:Q1531H;ENSP00000361079:Q1341H	ENSP00000354671:Q1531H	Q	+	3	2	MAST2	46273521	0.381000	0.25140	0.879000	0.34478	0.040000	0.13550	1.368000	0.34216	1.224000	0.43551	0.454000	0.30748	CAG	MAST2	-	NULL		0.602	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	G	NM_015112		46500934	1	no_errors	ENST00000361297	ensembl	human	known	70_37	missense	SNP	0.725	C	C	46500934	G	C	46500934	3	2	38	1	0	0	0	0	1	0	0	0	9348	933	33	1	4707	1	MAST2	1	46500934	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	19806674	46500934	202749687	4	5208										
STIL	6491	genome.wustl.edu	37	chr1	47765776	47765776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgaactcttagggaaagcaGcttaccacagtccaaggaat	9	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:47765776G>T	ENST00000360380.3	-	7	865	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	STIL_ENST00000371877.3_Missense_Mutation_p.L168M|STIL_ENST00000396221.2_Missense_Mutation_p.L168M|STIL_ENST00000337817.5_Missense_Mutation_p.L168M|STIL_ENST00000243182.6_Missense_Mutation_p.L168M	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	168					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AGGGAAAGCAGCTTACCACAG	0.368																																																	0													101	95	97					1																	47765776		2203	4300	6503	SO:0001583	missense	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.502C>A	1.37:g.47765776G>T	ENSP00000353544:p.Leu168Met		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.L168M	ENST00000360380.3	37	c.502	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380547	0.61845	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.47	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.65320	2	0.47441	D	0.999428	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65689	-0.6107	10	0.87932	D	0	-6.4499	8.632	0.33926	0.2933:0.0:0.7067:0.0	.	168;168;168	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	M	168	ENSP00000353544:L168M;ENSP00000337367:L168M;ENSP00000360944:L168M;ENSP00000379523:L168M;ENSP00000243182:L168M	ENSP00000243182:L168M	L	-	1	2	STIL	47538363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.546000	0.36179	0.648000	0.30732	0.557000	0.71058	CTG	STIL	-	NULL		0.368	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	G	NM_003035		47765776	-1	no_errors	ENST00000371877	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47765776	G	T	47765776	3	4	38	1	0	0	0	0	1	0	0	0	15312	962	34	4	3412	4	STIL	1	47765776	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1264842	47765776	201484845	5	5209										
LEPR	3953	genome.wustl.edu	37	chr1	66087044	66087044	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttctttttcagatgatattGaaaaacaccagagtgatgca	7	6	2	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:66087044G>A	ENST00000349533.6	+	18	2685	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	LEPR_ENST00000371060.3_Missense_Mutation_p.E834K|LEPR_ENST00000371059.3_Missense_Mutation_p.E834K|LEPR_ENST00000371058.1_Missense_Mutation_p.E834K|LEPR_ENST00000344610.8_Missense_Mutation_p.E834K|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGATGATATTGAAAAACACCA	0.284																																																	0													123	115	118					1																	66087044		2203	4298	6501	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2500G>A	1.37:g.66087044G>A	ENSP00000330393:p.Glu834Lys		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E834K	ENST00000349533.6	37	c.2500	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911805	0.17907	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.56611	0.51;0.45;0.52;0.5;0.51	5.12	3.2	0.36748	.	0.782162	0.11593	N	0.548515	T	0.40372	0.1114	M	0.65975	2.015	0.20489	N	0.999896	P;P;P	0.44429	0.565;0.835;0.835	B;B;P	0.45794	0.108;0.39;0.493	T	0.15925	-1.0420	10	0.40728	T	0.16	-0.8384	11.115	0.48256	0.1634:0.0:0.8366:0.0	.	834;834;834	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	K	834	ENSP00000340884:E834K;ENSP00000330393:E834K;ENSP00000360099:E834K;ENSP00000360098:E834K;ENSP00000360097:E834K	ENSP00000340884:E834K	E	+	1	0	LEPR	65859632	0.988000	0.35896	0.848000	0.33437	0.046000	0.14306	4.824000	0.62701	1.283000	0.44513	0.585000	0.79938	GAA	LEPR	-	NULL		0.284	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	G	NM_002303		66087044	1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.031	A	A	66087044	G	A	66087044	3	1	38	1	0	0	0	0	1	0	0	0	8748	1291	45	1	2562	1	LEPR	1	66087044	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	18321268	66087044	183163577	6	5210										
C1orf173	127254	genome.wustl.edu	37	chr1	75108728	75108728	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taccttaaacctctggattcGctccttcctagctaaggtct	6	13	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:75108728G>A	ENST00000326665.5	-	4	516	c.298C>T	c.(298-300)Cga>Tga	p.R100*		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		100										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGGATTCGCTCCTTCCTA	0.323																																																	0													100	90	93					1																	75108728		2203	4299	6502	SO:0001587	stop_gained	127254																														ENST00000326665.5:c.298C>T	1.37:g.75108728G>A	ENSP00000322609:p.Arg100*		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.R100*	ENST00000326665.5	37	c.298	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.362314	0.95877	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.4	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6466	13.8601	0.63554	0.0:0.0:0.721:0.279	.	.	.	.	X	100	.	ENSP00000322609:R100X	R	-	1	2	C1orf173	74881316	0.957000	0.32711	0.455000	0.27031	0.394000	0.30568	1.805000	0.38883	0.742000	0.32697	-0.319000	0.08680	CGA	C1orf173	-	NULL		0.323	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75108728	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	nonsense	SNP	0.946	A	A	75108728	G	A	75108728	4	1	38	1	0	0	0	0	0	1	0	0	2019	1095	38	2	4338	2	C1orf173	1	75108728	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9021684	75108728	174141893	7	5211										
CRYZ	1429	genome.wustl.edu	37	chr1	75172054	75172054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgagcctcggccaccttctCcaatggatattgagaaccta	8	12	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:75172054C>T	ENST00000340866.5	-	9	1003	c.916G>A	c.(916-918)Gag>Aag	p.E306K	CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.E272K|CRYZ_ENST00000370872.3_Missense_Mutation_p.E169K|CRYZ_ENST00000417775.1_Missense_Mutation_p.E306K	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	306					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	GCCACCTTCTCCAATGGATAT	0.403																																																	0													91	88	89					1																	75172054		2203	4300	6503	SO:0001583	missense	1429				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.916G>A	1.37:g.75172054C>T	ENSP00000339399:p.Glu306Lys		A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.E306K	ENST00000340866.5	37	c.916	CCDS665.1	1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616387	0.46736	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871	T;T;T;T	0.40225	3.0;1.04;3.0;3.6	5.05	5.05	0.67936	.	0.429508	0.24587	N	0.037254	T	0.35364	0.0929	M	0.84082	2.675	0.53005	D	0.999961	B;B;B	0.30605	0.031;0.287;0.047	B;B;B	0.32149	0.04;0.141;0.02	T	0.30090	-0.9990	10	0.31617	T	0.26	.	14.7869	0.69810	0.0:0.8551:0.1449:0.0	.	169;272;306	Q5HYE7;A6NN60;Q08257	.;.;QOR_HUMAN	K	306;169;306;272	ENSP00000339399:E306K;ENSP00000359909:E169K;ENSP00000399805:E306K;ENSP00000359908:E272K	ENSP00000339399:E306K	E	-	1	0	CRYZ	74944642	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	4.945000	0.63568	2.351000	0.79841	0.655000	0.94253	GAG	CRYZ	-	smart_PKS_ER		0.403	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1	C			75172054	-1	no_errors	ENST00000340866	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75172054	C	T	75172054	3	4	38	1	0	0	0	0	1	0	0	0	3927	864	30	1	77	1	CRYZ	1	75172054	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	63326	75172054	174078567	8	5212										
FNBP1L	54874	genome.wustl.edu	37	chr1	93988993	93988993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agcagaagaaatggcgcacaGagtgtatggtgaattaatga	13	4	0	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:93988993G>T	ENST00000271234.7	+	4	438	c.287G>T	c.(286-288)aGa>aTa	p.R96I	FNBP1L_ENST00000260506.8_Missense_Mutation_p.R96I|FNBP1L_ENST00000604705.1_Missense_Mutation_p.R96I|FNBP1L_ENST00000370253.2_Missense_Mutation_p.R96I|FNBP1L_ENST00000370256.4_Missense_Mutation_p.R96I	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	96	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATGGCGCACAGAGTGTATGGT	0.348																																																	0													104	98	100					1																	93988993		1925	4154	6079	SO:0001583	missense	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.287G>T	1.37:g.93988993G>T	ENSP00000271234:p.Arg96Ile		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.R96I	ENST00000271234.7	37	c.287	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005671	0.74932	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.95	5.95	0.96441	.	0.089149	0.85682	D	0.000000	T	0.37732	0.1014	L	0.47716	1.5	0.58432	D	0.999999	D;B	0.56968	0.978;0.31	P;B	0.46543	0.52;0.059	T	0.23332	-1.0191	10	0.62326	D	0.03	-11.9015	20.3719	0.98893	0.0:0.0:1.0:0.0	.	96;96	Q5T0N5-4;Q5T0N5-3	.;.	I	96	ENSP00000359278:R96I;ENSP00000271234:R96I;ENSP00000260506:R96I;ENSP00000359275:R96I	ENSP00000260506:R96I	R	+	2	0	FNBP1L	93761581	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.631000	0.61304	2.826000	0.97356	0.491000	0.48974	AGA	FNBP1L	-	NULL		0.348	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	FNBP1L	HGNC	protein_coding		G	NM_017737		93988993	1	no_errors	ENST00000271234	ensembl	human	known	70_37	missense	SNP	1.000	T	T	93988993	G	T	93988993	3	4	38	1	0	0	0	0	1	0	0	0	5984	942	33	3	301	3	FNBP1L	1	93988993	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	18816939	93988993	155261628	9	5213										
FRRS1	391059	genome.wustl.edu	37	chr1	100185200	100185200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctgagagtgcttgtaaattCgacctgcaaattaaaaacaa	8	7	0	1	rs149529384		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:100185200C>T	ENST00000414213.1	-	10	1611	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	FRRS1_ENST00000287474.5_Missense_Mutation_p.R337Q			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	337	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTTGTAAATTCGACCTGCAAA	0.358																																																	0								C	GLN/ARG	0,4406		0,0,2203	94	93	94		1010	-0.1	1	1	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense	FRRS1	NM_001013660.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	337/627	100185200	1,13005	2203	4300	6503	SO:0001583	missense	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1010G>A	1.37:g.100185200C>T	ENSP00000393884:p.Arg337Gln		A6NLN7	Missense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.R337Q	ENST00000414213.1	37	c.1010		1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670381	0.29693	0.0	1.16E-4	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.76	-0.0873	0.13677	.	1.168270	0.05951	N	0.638847	T	0.05868	0.0153	L	0.28115	0.83	0.22226	N	0.999276	B	0.30114	0.269	B	0.20384	0.029	T	0.25606	-1.0127	9	0.13470	T	0.59	-0.1698	1.9691	0.03402	0.1299:0.3971:0.1277:0.3453	.	337	Q6ZNA5-2	.	Q	337	.	ENSP00000287474:R337Q	R	-	2	0	FRRS1	99957788	0.025000	0.19082	0.969000	0.41365	0.966000	0.64601	-1.036000	0.03560	0.070000	0.16634	0.655000	0.94253	CGA	FRRS1	-	smart_DOMON_domain,pfscan_Cyt_b561/ferric_Rdtase_TM		0.358	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		C	NM_001013660		100185200	-1	no_errors	ENST00000287474	ensembl	human	known	70_37	missense	SNP	0.651	T	T	100185200	C	T	100185200	3	4	38	1	0	0	0	0	1	0	0	0	6078	884	31	1	902	1	FRRS1	1	100185200	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	6196207	100185200	149065421	10	5214										
AMY2A	279	genome.wustl.edu	37	chr1	104163266	104163266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atggtgcaaaactcggcacaGttattcgcaagtggaatgga	12	7	0	0	rs61814453	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:104163266G>A	ENST00000414303.2	+	5	902	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	280					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ACTCGGCACAGTTATTCGCAA	0.393													.|||	622	0.124201	0.0514	0.111	5008	,	,		16567	0.1081		0.1551	False		,,,				2504	0.2168																0													18	17	17					1																	104163266		2120	4184	6304	SO:0001583	missense	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.838G>A	1.37:g.104163266G>A	ENSP00000397582:p.Val280Ile		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.V280I	ENST00000414303.2	37	c.838	CCDS783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.52|11.52	1.661728|1.661728	0.29515|0.29515	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.98455	.|-4.94	3.13|3.13	3.13|3.13	0.36017|0.36017	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.201916	.|0.42548	.|D	.|0.000684	D|D	0.95768|0.95768	0.8623|0.8623	M|M	0.67700|0.67700	2.07|2.07	0.20196|0.20196	P|P	0.9999271308|0.9999271308	.|B	.|0.19331	.|0.035	.|B	.|0.23419	.|0.046	D|D	0.96042|0.96042	0.9025|0.9025	4|9	.|0.56958	.|D	.|0.05	.|.	14.3403|14.3403	0.66622|0.66622	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|280	.|P04746	.|AMYP_HUMAN	N|I	201|280	.|ENSP00000397582:V280I	.|ENSP00000377509:V280I	S|V	+|+	2|1	0|0	AMY2A|AMY2A	103964789|103964789	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.977000|0.977000	0.68977|0.68977	4.248000|4.248000	0.58760|0.58760	1.723000|1.723000	0.51488|0.51488	0.305000|0.305000	0.20034|0.20034	AGT|GTT	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.393	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	G	NM_000699		104163266	1	no_errors	ENST00000414303	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104163266	G	A	104163266	3	1	38	1	0	0	0	0	1	0	0	0	594	1029	36	4	856	4	AMY2A	1	104163266	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	3978066	104163266	145087355	11	5215										
KCNC4	3749	genome.wustl.edu	37	chr1	110765970	110765970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggtgcgcttcgtgcgcatcCtgcgtatcttcaagctcaca	10	13	3	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:110765970C>T	ENST00000369787.3	+	2	1090	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	KCNC4_ENST00000438661.2_Silent_p.L355L|KCNC4_ENST00000413138.3_Silent_p.L355L|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	355					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTGCGCATCCTGCGTATCTT	0.637																																																	0													71	59	63					1																	110765970		2203	4300	6503	SO:0001819	synonymous_variant	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1063C>T	1.37:g.110765970C>T			Q3MIM4|Q5TBI6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.L355	ENST00000369787.3	37	c.1063	CCDS821.1	1																																																																																			KCNC4	-	pfam_Ion_trans_dom,prints_K_chnl		0.637	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	HGNC	protein_coding	OTTHUMT00000052146.2	C	NM_001039574		110765970	1	no_errors	ENST00000369787	ensembl	human	known	70_37	silent	SNP	1.000	T	T	110765970	C	T	110765970	2	4	38	1	0	0	0	0	0	0	0	1	8037	680	24	4		4	KCNC4	1	110765970	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	6602704	110765970	138484651	12	5216										
DENND2C	163259	genome.wustl.edu	37	chr1	115168413	115168413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	caagtttttgctctttctctCagctataggatttttcttaa	5	8	4	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:115168413C>T	ENST00000393274.1	-	4	818	c.193G>A	c.(193-195)Gag>Aag	p.E65K	DENND2C_ENST00000393276.3_Missense_Mutation_p.E65K|DENND2C_ENST00000393277.1_Missense_Mutation_p.E65K|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	65					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTCTCTCAGCTATAGGA	0.368																																																	0													185	192	190					1																	115168413		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.193G>A	1.37:g.115168413C>T	ENSP00000376955:p.Glu65Lys		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E65K	ENST00000393274.1	37	c.193	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578471	0.03854	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08008	3.76;3.78;3.14	5.77	2.83	0.33086	.	32.566100	0.00166	N	0.000000	T	0.01800	0.0057	L	0.36672	1.1	0.09310	N	1	B;B	0.21309	0.054;0.014	B;B	0.17433	0.013;0.018	T	0.39165	-0.9627	10	0.06891	T	0.86	.	5.7493	0.18138	0.0:0.6212:0.1552:0.2236	.	65;65	Q68D51;Q68D51-3	DEN2C_HUMAN;.	K	65	ENSP00000376957:E65K;ENSP00000376955:E65K;ENSP00000376958:E65K	ENSP00000358553:E65K	E	-	1	0	DENND2C	114969936	0.000000	0.05858	0.016000	0.15963	0.014000	0.08584	-0.066000	0.11598	0.767000	0.33267	0.644000	0.83932	GAG	DENND2C	-	NULL		0.368	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115168413	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	0.000	T	T	115168413	C	T	115168413	3	4	38	1	0	0	0	0	1	0	0	0	4440	835	29	1	2490	1	DENND2C	1	115168413	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4402443	115168413	134082208	13	5217										
TXNIP	10628	genome.wustl.edu	37	chr1	145441217	145441217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctcaacaacaatgtgcagtGagcatgtggaagaaaagaag	11	7	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:145441217G>A	ENST00000369317.4	+	8	1509	c.1175G>A	c.(1174-1176)tGa>tAa	p.*392*	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	0					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATGTGCAGTGAGCATGTGGA	0.408																																																	0													111	105	107					1																	145441217		2203	4300	6503	SO:0001819	synonymous_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1175G>A	1.37:g.145441217G>A			B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.*392	ENST00000369317.4	37	c.1175	CCDS913.1	1																																																																																			TXNIP	-	NULL		0.408	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	G	NM_006472		145441217	1	no_errors	ENST00000369317	ensembl	human	known	70_37	silent	SNP	0.999	A	A	145441217	G	A	145441217	2	1	38	1	0	0	0	0	0	0	0	1	16834	1285	45	1		1	TXNIP	1	145441217	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	30272804	145441217	103809404	14	5218										
NBPF15	284565	genome.wustl.edu	37	chr1	148594447	148594447	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcctgaagtcttacaggactCactggatagatgttattcga	10	8	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:148594447C>G	ENST00000369187.3	+	19	2309	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	NBPF15_ENST00000442702.2_Nonsense_Mutation_p.S607*	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	607	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TTACAGGACTCACTGGATAGA	0.448																																																	0													174	226	208					1																	148594447		2203	4297	6500	SO:0001587	stop_gained	284565			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1820C>G	1.37:g.148594447C>G	ENSP00000358188:p.Ser607*		Q3BBV9|Q8IX77	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.S607*	ENST00000369187.3	37	c.1820	CCDS932.1	1	.	.	.	.	.	.	.	.	.	.	.	36	5.744327	0.96882	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	607	.	ENSP00000358188:S607X	S	+	2	0	NBPF15	146861071	0.997000	0.39634	0.021000	0.16686	0.013000	0.08279	0.762000	0.26503	0.557000	0.29117	0.377000	0.23210	TCA	NBPF15	-	pfam_NBPF_dom		0.448	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF15	HGNC	protein_coding	OTTHUMT00000038609.3	C	NM_173638		148594447	1	no_errors	ENST00000369187	ensembl	human	known	70_37	nonsense	SNP	0.022	G	G	148594447	C	G	148594447	4	3	38	1	0	0	0	0	0	1	0	0	10219	838	29	1	1878	1	NBPF15	1	148594447	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3153230	148594447	100656174	15	5219										
PRPF3	9129	genome.wustl.edu	37	chr1	150305545	150305545	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttcatgaatgatgccattgaGaaggcaaggaaagcagctga	12	6	1	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:150305545G>C	ENST00000324862.6	+	6	768	c.603G>C	c.(601-603)gaG>gaC	p.E201D	PRPF3_ENST00000543398.1_Missense_Mutation_p.E66D|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E152D	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	201					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ATGCCATTGAGAAGGCAAGGA	0.532																																					Ovarian(168;1070 2670 5178 20729)												0													66	63	64					1																	150305545		2203	4300	6503	SO:0001583	missense	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.603G>C	1.37:g.150305545G>C	ENSP00000315379:p.Glu201Asp		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI	p.E201D	ENST00000324862.6	37	c.603	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004839	0.35415	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.78481	-1.18;-1.09	5.33	0.805	0.18703	.	0.046049	0.85682	D	0.000000	T	0.39091	0.1065	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.11235	0.003;0.004	B;B	0.10450	0.005;0.005	T	0.17167	-1.0378	10	0.11794	T	0.64	-19.0702	7.3417	0.26640	0.3427:0.0:0.5456:0.1118	.	152;201	E7EVD1;O43395	.;PRPF3_HUMAN	D	201;152;66	ENSP00000315379:E201D;ENSP00000387844:E152D	ENSP00000315379:E201D	E	+	3	2	PRPF3	148572169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.460000	0.35244	0.255000	0.21593	-0.157000	0.13467	GAG	PRPF3	-	NULL		0.532	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	G	NM_004698		150305545	1	no_errors	ENST00000324862	ensembl	human	known	70_37	missense	SNP	0.992	C	C	150305545	G	C	150305545	3	2	38	1	0	0	0	0	1	0	0	0	12592	933	33	1	621	1	PRPF3	1	150305545	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1711098	150305545	98945076	16	5220										
PI4KB	5298	genome.wustl.edu	37	chr1	151288811	151288811	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aacacctcctggcaggccttCtgggccacctcagggtcaat	10	15	3	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:151288811C>T	ENST00000368873.1	-	2	315	c.147G>A	c.(145-147)caG>caA	p.Q49Q	PI4KB_ENST00000368872.1_Silent_p.Q49Q|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Silent_p.Q49Q|PI4KB_ENST00000271657.5_Silent_p.Q61Q|PI4KB_ENST00000368875.2_Silent_p.Q61Q			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	49	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCAGGCCTTCTGGGCCACCT	0.587																																					Colon(154;765 1838 9854 28443 37492)												0													59	52	55					1																	151288811		2203	4300	6503	SO:0001819	synonymous_variant	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.147G>A	1.37:g.151288811C>T			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q61	ENST00000368873.1	37	c.183		1																																																																																			PI4KB	-	NULL		0.587	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	C	NM_002651		151288811	-1	no_errors	ENST00000271657	ensembl	human	known	70_37	silent	SNP	1.000	T	T	151288811	C	T	151288811	2	4	38	1	0	0	0	0	0	0	0	1	11898	912	32	1		1	PI4KB	1	151288811	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	983266	151288811	97961810	17	5221										
PKLR	5313	genome.wustl.edu	37	chr1	155265458	155265458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cggcggcccgtcccgcacctCgtgggagccgtgggagaagt	17	14	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:155265458C>T	ENST00000342741.4	-	3	411	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PKLR_ENST00000392414.3_Missense_Mutation_p.E94K	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	125					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCCCGCACCTCGTGGGAGCCG	0.662																																																	0													78	67	71					1																	155265458		2203	4300	6503	SO:0001583	missense	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.373G>A	1.37:g.155265458C>T	ENSP00000339933:p.Glu125Lys		O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.E125K	ENST00000342741.4	37	c.373	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106248	0.77096	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99537	-6.11;-6.11	4.25	1.12	0.20585	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.236645	0.42053	N	0.000778	D	0.98912	0.9631	M	0.88105	2.93	0.58432	D	0.999998	P;P	0.40000	0.698;0.698	B;P	0.45881	0.37;0.496	D	0.99445	1.0939	10	0.87932	D	0	-17.2291	7.2625	0.26212	0.0:0.5772:0.3275:0.0953	.	125;116	P30613;B1AVT1	KPYR_HUMAN;.	K	150;94;125;61	ENSP00000376214:E94K;ENSP00000339933:E125K	ENSP00000271946:E61K	E	-	1	0	PKLR	153532082	1.000000	0.71417	0.825000	0.32803	0.903000	0.53119	3.709000	0.54853	0.132000	0.18615	0.650000	0.86243	GAG	PKLR	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase		0.662	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	C	NM_000298		155265458	-1	no_errors	ENST00000342741	ensembl	human	known	70_37	missense	SNP	0.997	T	T	155265458	C	T	155265458	3	4	38	1	0	0	0	0	1	0	0	0	12000	893	31	1	1387	1	PKLR	1	155265458	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3976647	155265458	93985163	18	5222										
SYT11	23208	genome.wustl.edu	37	chr1	155838304	155838304	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgaccagacccagggatctGacccctacatcaaaatgacc	7	14	2	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:155838304G>C	ENST00000368324.4	+	2	836	c.583G>C	c.(583-585)Gac>Cac	p.D195H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	195	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCAGGGATCTGACCCCTACAT	0.547																																																	0													83	78	80					1																	155838304		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.583G>C	1.37:g.155838304G>C	ENSP00000357307:p.Asp195His		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.D195H	ENST00000368324.4	37	c.583	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774518	0.90108	.	.	ENSG00000132718	ENST00000368324	T	0.15834	2.39	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75105	-0.3435	10	0.87932	D	0	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	195	Q9BT88	SYT11_HUMAN	H	195	ENSP00000357307:D195H	ENSP00000357307:D195H	D	+	1	0	SYT11	154104928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	GAC	SYT11	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.547	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155838304	1	no_errors	ENST00000368324	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155838304	G	C	155838304	3	2	38	1	0	0	0	0	1	0	0	0	15497	1290	45	1	589	1	SYT11	1	155838304	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	572846	155838304	93412317	19	5223										
OR10K2	391107	genome.wustl.edu	37	chr1	158389842	158389842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtaggatactgatattagaGcatcctggcttgaggagtag	13	5	0	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:158389842G>A	ENST00000314902.2	-	1	814	c.815C>T	c.(814-816)gCt>gTt	p.A272V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGATATTAGAGCATCCTGGCT	0.388																																																	0													106	106	106					1																	158389842		2203	4300	6503	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.815C>T	1.37:g.158389842G>A	ENSP00000324251:p.Ala272Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A272V	ENST00000314902.2	37	c.815	CCDS30896.1	1	.	.	.	.	.	.	.	.	.	.	g	1.958	-0.439608	0.04636	.	.	ENSG00000180708	ENST00000314902	T	0.00084	8.75	4.23	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.503954	0.16555	N	0.209320	T	0.00039	0.0001	N	0.16130	0.375	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.44726	-0.9309	10	0.66056	D	0.02	.	3.2346	0.06760	0.2875:0.0:0.4387:0.2738	.	272	Q6IF99	O10K2_HUMAN	V	272	ENSP00000324251:A272V	ENSP00000324251:A272V	A	-	2	0	OR10K2	156656466	0.000000	0.05858	0.161000	0.22692	0.005000	0.04900	-0.017000	0.12590	0.167000	0.19631	0.591000	0.81541	GCT	OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.388	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	G	NM_001004476		158389842	-1	no_errors	ENST00000314902	ensembl	human	known	70_37	missense	SNP	0.000	A	A	158389842	G	A	158389842	3	1	38	1	0	0	0	0	1	0	0	0	10938	971	34	4	125	4	OR10K2	1	158389842	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2551538	158389842	90860779	20	5224										
KCNJ10	3766	genome.wustl.edu	37	chr1	160012204	160012204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtcggcaatgtgctccattCtcacgttgctgcgaccatct	9	13	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:160012204C>T	ENST00000368089.3	-	2	345	c.119G>A	c.(118-120)aGa>aAa	p.R40K	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	40					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GTGCTCCATTCTCACGTTGCT	0.547																																					GBM(167;1368 2014 14817 36425 43215)												0													191	157	168					1																	160012204		2203	4300	6503	SO:0001583	missense	3766			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.119G>A	1.37:g.160012204C>T	ENSP00000357068:p.Arg40Lys		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.R40K	ENST00000368089.3	37	c.119	CCDS1193.1	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543645	0.45280	.	.	ENSG00000177807	ENST00000368089	D	0.93604	-3.25	5.17	5.17	0.71159	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.052945	0.64402	D	0.000001	D	0.88336	0.6409	L	0.45051	1.395	0.43195	D	0.995036	B	0.23735	0.09	B	0.28849	0.095	D	0.86404	0.1744	10	0.56958	D	0.05	.	16.2022	0.82088	0.0:1.0:0.0:0.0	.	40	P78508	IRK10_HUMAN	K	40	ENSP00000357068:R40K	ENSP00000357068:R40K	R	-	2	0	KCNJ10	158278828	0.013000	0.17824	0.999000	0.59377	0.969000	0.65631	2.409000	0.44583	2.688000	0.91661	0.591000	0.81541	AGA	KCNJ10	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.547	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	C	NM_002241		160012204	-1	no_errors	ENST00000368089	ensembl	human	known	70_37	missense	SNP	0.980	T	T	160012204	C	T	160012204	3	4	38	1	0	0	0	0	1	0	0	0	8064	913	32	1	1024	1	KCNJ10	1	160012204	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1622362	160012204	89238417	21	5225										
NME7	29922	genome.wustl.edu	37	chr1	169293721	169293721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taccactctgcaatgaaaacGaatctttcactatgattctg	5	10	4	2	rs1140523	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:169293721G>A	ENST00000367811.3	-	2	277	c.21C>T	c.(19-21)ttC>ttT	p.F7F	RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000469474.1_5'Flank|NME7_ENST00000472647.1_Intron	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	7	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CAATGAAAACGAATCTTTCAC	0.348													G|||	1137	0.227037	0.1732	0.389	5008	,	,		17160	0.0238		0.4394	False		,,,				2504	0.1759																0								G	,	999,3407	373.4+/-320.8	115,769,1319	86	81	83		21,	-1	0.5	1	dbSNP_116	83	3677,4923	525.5+/-380.8	784,2109,1407	no	coding-synonymous,intron	NME7	NM_013330.3,NM_197972.1	,	899,2878,2726	AA,AG,GG		42.7558,22.6736,35.9526	,	7/377,	169293721	4676,8330	2203	4300	6503	SO:0001819	synonymous_variant	29922			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.21C>T	1.37:g.169293721G>A			A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.F7	ENST00000367811.3	37	c.21	CCDS1277.1	1																																																																																			NME7	-	smart_Uncharacterised_DM10,pirsf_NDK7		0.348	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1	G	NM_013330		169293721	-1	no_errors	ENST00000367811	ensembl	human	known	70_37	silent	SNP	0.718	A	A	169293721	G	A	169293721	2	1	38	1	0	0	0	0	0	0	0	1	10520	1049	37	1		1	NME7	1	169293721	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9281517	169293721	79956900	22	5226										
C1orf9	51430	genome.wustl.edu	37	chr1	172571295	172571295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcagcgttgtcgaaatacttCtcaatttgatggagattata	9	6	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:172571295C>G	ENST00000263688.3	+	21	3329	c.3110C>G	c.(3109-3111)tCt>tGt	p.S1037C	SUCO_ENST00000608151.1_Missense_Mutation_p.S1189C|SUCO_ENST00000610051.1_Missense_Mutation_p.S666C|SUCO_ENST00000367723.4_Missense_Mutation_p.S1188C	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1037					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CGAAATACTTCTCAATTTGAT	0.328																																																	0													122	110	114					1																	172571295		2202	4300	6502	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3110C>G	1.37:g.172571295C>G	ENSP00000263688:p.Ser1037Cys		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S1189C	ENST00000263688.3	37	c.3566	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177400	0.78564	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.54	5.54	0.83059	.	0.105878	0.64402	D	0.000004	T	0.74650	0.3744	M	0.67953	2.075	0.48395	D	0.999647	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.85130	0.962;0.997;0.963;0.963	T	0.77078	-0.2721	9	0.87932	D	0	-13.8829	18.0513	0.89349	0.0:1.0:0.0:0.0	.	666;1037;1189;1037	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	C	1189;1037	.	ENSP00000263688:S1037C	S	+	2	0	C1orf9	170837918	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.217000	0.58547	2.585000	0.87301	0.650000	0.86243	TCT	SUCO	-	NULL		0.328	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	C	NM_016227		172571295	1	no_errors	ENST00000367723	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172571295	C	G	172571295	3	3	38	1	0	0	0	0	1	0	0	0	2072	913	32	1	3192	1	C1orf9	1	172571295	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3277574	172571295	76679326	23	5227										
KLHL20	27252	genome.wustl.edu	37	chr1	173735316	173735316	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaacaaaccagtggagcagtGatgtggcccctacaagcacc	10	12	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:173735316G>A	ENST00000209884.4	+	8	1319	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	KLHL20_ENST00000546011.1_Missense_Mutation_p.D206N	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	395					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GTGGAGCAGTGATGTGGCCCC	0.463																																					GBM(159;862 2695 6559 23041)												0													241	216	225					1																	173735316		2203	4300	6503	SO:0001583	missense	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1183G>A	1.37:g.173735316G>A	ENSP00000209884:p.Asp395Asn		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D395N	ENST00000209884.4	37	c.1183	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374525	0.82573	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.73363	-0.74;-0.2	5.5	5.5	0.81552	Galactose oxidase, beta-propeller (1);	0.093769	0.64402	D	0.000001	T	0.46718	0.1407	N	0.19112	0.55	0.80722	D	1	B;B	0.27882	0.192;0.047	B;B	0.26416	0.069;0.025	T	0.49707	-0.8911	10	0.14656	T	0.56	.	18.1691	0.89739	0.0:0.0:1.0:0.0	.	206;395	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	N	206;395	ENSP00000443121:D206N;ENSP00000209884:D395N	ENSP00000209884:D395N	D	+	1	0	KLHL20	172001939	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.689000	0.98673	2.575000	0.86900	0.650000	0.86243	GAT	KLHL20	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.463	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	G	NM_014458		173735316	1	no_errors	ENST00000209884	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173735316	G	A	173735316	3	1	38	1	0	0	0	0	1	0	0	0	8395	1290	45	1	1209	1	KLHL20	1	173735316	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1164021	173735316	75515305	24	5228										
CEP350	9857	genome.wustl.edu	37	chr1	180013197	180013197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tatttgtaggaaaagtccatCtgtttcactctctcagagta	7	8	4	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:180013197C>G	ENST00000367607.3	+	21	4929	c.4511C>G	c.(4510-4512)tCt>tGt	p.S1504C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1504	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAGTCCATCTGTTTCACTC	0.303																																																	0													33	32	32					1																	180013197		2190	4259	6449	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4511C>G	1.37:g.180013197C>G	ENSP00000356579:p.Ser1504Cys		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S1504C	ENST00000367607.3	37	c.4511	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.214|8.214	0.801042|0.801042	0.16397|0.16397	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000418229|ENST00000367607	.|T	.|0.59638	.|0.25	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.43110	.|D	.|0.000613	T|T	0.62171|0.62171	0.2406|0.2406	L|L	0.27053|0.27053	0.805|0.805	0.29025|0.29025	N|N	0.886069|0.886069	.|D;D	.|0.76494	.|0.999;0.999	.|D;P	.|0.79784	.|0.993;0.887	T|T	0.57963|0.57963	-0.7720|-0.7720	5|9	.|.	.|.	.|.	.|.	11.9845|11.9845	0.53140|0.53140	0.0:0.9197:0.0:0.0803|0.0:0.9197:0.0:0.0803	.|.	.|1504;1504	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	M|C	112|1504	.|ENSP00000356579:S1504C	.|.	I|S	+|+	3|2	3|0	CEP350|CEP350	178279820|178279820	0.871000|0.871000	0.30034|0.30034	0.803000|0.803000	0.32268|0.32268	0.026000|0.026000	0.11368|0.11368	3.487000|3.487000	0.53222|0.53222	2.692000|2.692000	0.91855|0.91855	0.555000|0.555000	0.69702|0.69702	ATC|TCT	CEP350	-	NULL		0.303	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	C	NM_014810		180013197	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.976	G	G	180013197	C	G	180013197	3	3	38	1	0	0	0	0	1	0	0	0	3259	913	32	1	4589	1	CEP350	1	180013197	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	6277881	180013197	69237424	25	5229										
EDEM3	80267	genome.wustl.edu	37	chr1	184703699	184703699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtttgtttcaaagactgataCgactacatcgttatctaaat	6	7	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:184703699C>T	ENST00000318130.8	-	5	690	c.424G>A	c.(424-426)Gta>Ata	p.V142I	EDEM3_ENST00000367512.3_Missense_Mutation_p.V99I	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	142					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGACTGATACGACTACATCG	0.244																																																	0													44	48	47					1																	184703699		2197	4290	6487	SO:0001583	missense	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.424G>A	1.37:g.184703699C>T	ENSP00000318147:p.Val142Ile		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.V142I	ENST00000318130.8	37	c.424	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	C	31	5.079557	0.94050	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.72394	-0.65;-0.65	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67900	0.954;0.954	T	0.81671	-0.0827	10	0.54805	T	0.06	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	142;99	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	I	142;99	ENSP00000318147:V142I;ENSP00000356482:V99I	ENSP00000318147:V142I	V	-	1	0	EDEM3	182970322	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.302000	0.78861	2.747000	0.94245	0.650000	0.86243	GTA	EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.244	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	C	NM_025191		184703699	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	missense	SNP	1.000	T	T	184703699	C	T	184703699	3	4	38	1	0	0	0	0	1	0	0	0	4923	536	19	2	2438	2	EDEM3	1	184703699	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4690502	184703699	64546922	26	5230										
CRB1	23418	genome.wustl.edu	37	chr1	197404045	197404045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aattgcaaagtggcaacagcTtttatatgctaagtctgaca	8	7	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:197404045T>C	ENST00000367400.3	+	9	3187	c.3052T>C	c.(3052-3054)Ttt>Ctt	p.F1018L	CRB1_ENST00000544212.1_Missense_Mutation_p.F499L|CRB1_ENST00000535699.1_Missense_Mutation_p.F994L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.F399L|CRB1_ENST00000367399.2_Missense_Mutation_p.F906L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1018	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGCAACAGCTTTTATATGCT	0.403																																																	0													69	73	72					1																	197404045		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3052T>C	1.37:g.197404045T>C	ENSP00000356370:p.Phe1018Leu		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F1018L	ENST00000367400.3	37	c.3052	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	T	5.287	0.238437	0.10023	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.44	1.76	0.24704	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.62073	0.2398	L	0.38531	1.155	0.20975	N	0.999813	P;P;B;P	0.38617	0.587;0.587;0.009;0.64	B;B;B;B	0.36567	0.146;0.146;0.013;0.228	T	0.50110	-0.8866	9	0.30854	T	0.27	.	2.4482	0.04511	0.2619:0.07:0.137:0.5312	.	994;906;667;1018	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	994;1018;906;499;399;667	ENSP00000438786:F994L;ENSP00000356370:F1018L;ENSP00000356369:F906L;ENSP00000444556:F499L;ENSP00000356367:F399L	ENSP00000356367:F399L	F	+	1	0	CRB1	195670668	0.730000	0.28100	0.035000	0.18076	0.888000	0.51559	0.591000	0.23969	0.033000	0.15463	0.533000	0.62120	TTT	CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.403	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	T	NM_201253		197404045	1	no_errors	ENST00000367400	ensembl	human	known	70_37	missense	SNP	0.004	C	C	197404045	T	C	197404045	3	2	38	1	0	0	0	0	1	0	0	0	3853	1609	56	5	3086	5	CRB1	1	197404045	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	12700346	197404045	51846576	27	5231										
PKP1	5317	genome.wustl.edu	37	chr1	201286771	201286771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaccagaacgtccagcaggcCgcggcaggggccctgcgcaa	14	15	0	1	rs1722779	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:201286771C>T	ENST00000352845.3	+	5	918	c.918C>T	c.(916-918)gcC>gcT	p.A306A	PKP1_ENST00000367324.3_Silent_p.A306A|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Silent_p.A306A			Q13835	PKP1_HUMAN	plakophilin 1	306					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TCCAGCAGGCCGCGGCAGGGG	0.647													C|||	844	0.16853	0.1316	0.1945	5008	,	,		17421	0.2302		0.1978	False		,,,				2504	0.1063																0								C	,	584,3818		41,502,1658	27	29	28		918,918	-11.1	0	1	dbSNP_89	28	1794,6806		192,1410,2698	no	coding-synonymous,coding-synonymous	PKP1	NM_000299.3,NM_001005337.2	,	233,1912,4356	TT,TC,CC		20.8605,13.2667,18.2895	,	306/748,306/727	201286771	2378,10624	2201	4300	6501	SO:0001819	synonymous_variant	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.918C>T	1.37:g.201286771C>T			O00645|Q14CA0|Q15152	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A306	ENST00000352845.3	37	c.918	CCDS30966.1	1																																																																																			PKP1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.647	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	C	NM_000299		201286771	1	no_errors	ENST00000263946	ensembl	human	known	70_37	silent	SNP	0.002	T	T	201286771	C	T	201286771	2	4	38	1	0	0	0	0	0	0	0	1	12008	639	23	2		2	PKP1	1	201286771	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3882726	201286771	47963850	28	5232										
ELF3	1999	genome.wustl.edu	37	chr1	201981105	201981105	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaaggccagctggttggggGaacagccccagttctggtcg	16	10	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:201981105G>T	ENST00000359651.3	+	2	3376	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Nonsense_Mutation_p.E62*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.E62*|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTGGTTGGGGGAACAGCCCCA	0.537																																																	0													99	101	101					1																	201981105		2203	4300	6503	SO:0001587	stop_gained	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.184G>T	1.37:g.201981105G>T	ENSP00000352673:p.Glu62*			Nonsense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.E62*	ENST00000359651.3	37	c.184	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500064	0.64298	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	.	.	.	5.45	3.17	0.36434	.	0.809565	0.11722	N	0.535790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.3508	0.55146	0.1675:0.0:0.8325:0.0	.	.	.	.	X	62;62;62;62;60	.	ENSP00000311348:E62X	E	+	1	0	ELF3	200247728	1.000000	0.71417	0.835000	0.33067	0.112000	0.19704	4.136000	0.58004	1.235000	0.43724	0.591000	0.81541	GAA	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.537	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201981105	1	no_errors	ENST00000359651	ensembl	human	known	70_37	nonsense	SNP	0.564	T	T	201981105	G	T	201981105	4	4	38	1	0	0	0	0	0	1	0	0	5067	1175	41	3	190	3	ELF3	1	201981105	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	694334	201981105	47269516	29	5233										
ELF3	1999	genome.wustl.edu	37	chr1	201981549	201981549	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggccttccaggaggccctaGacccagggccctttggtgag	14	13	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:201981549G>A	ENST00000359651.3	+	3	3655	c.463G>A	c.(463-465)Gac>Aac	p.D155N	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D155N|ELF3_ENST00000367284.5_Missense_Mutation_p.D155N|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGAGGCCCTAGACCCAGGGCC	0.577																																																	0													84	93	90					1																	201981549		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.463G>A	1.37:g.201981549G>A	ENSP00000352673:p.Asp155Asn			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.D155N	ENST00000359651.3	37	c.463	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750139	0.49257	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.55930	2.45;2.45;2.45;0.49	4.81	3.84	0.44239	.	1.943430	0.02215	N	0.063469	T	0.53981	0.1830	L	0.60455	1.87	0.09310	N	1	P	0.39665	0.682	B	0.37239	0.244	T	0.47636	-0.9102	10	0.72032	D	0.01	.	9.4262	0.38581	0.1094:0.0:0.8906:0.0	.	155	P78545	ELF3_HUMAN	N	155;155;155;155;153	ENSP00000352673:D155N;ENSP00000356253:D155N;ENSP00000356252:D155N;ENSP00000405162:D153N	ENSP00000311348:D155N	D	+	1	0	ELF3	200248172	0.916000	0.31088	0.005000	0.12908	0.238000	0.25445	1.791000	0.38744	0.920000	0.36970	-0.367000	0.07326	GAC	ELF3	-	NULL		0.577	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201981549	1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	0.053	A	A	201981549	G	A	201981549	3	1	38	1	0	0	0	0	1	0	0	0	5067	942	33	1	473	1	ELF3	1	201981549	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	444	201981549	47269072	30	5234										
ELF3	1999	genome.wustl.edu	37	chr1	201982373	201982373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcggaaacgaggccggccccGaaagctgagcaaagagtact	14	11	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:201982373G>A	ENST00000359651.3	+	6	3944	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R251Q|ELF3_ENST00000367284.5_Missense_Mutation_p.R251Q|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCGGCCCCGAAAGCTGAGC	0.642																																																	0													71	76	75					1																	201982373		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.752G>A	1.37:g.201982373G>A	ENSP00000352673:p.Arg251Gln			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.R251Q	ENST00000359651.3	37	c.752	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643990	0.87859	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.16196	2.36;2.36;2.36	5.63	5.63	0.86233	AT hook, DNA-binding motif (1);	2.194570	0.01612	N	0.022581	T	0.44644	0.1303	M	0.72118	2.19	0.38662	D	0.952099	D	0.89917	1.0	D	0.80764	0.994	T	0.15607	-1.0431	10	0.16896	T	0.51	.	12.1786	0.54199	0.0806:0.0:0.9194:0.0	.	251	P78545	ELF3_HUMAN	Q	251;251;251;228	ENSP00000352673:R251Q;ENSP00000356253:R251Q;ENSP00000356252:R251Q	ENSP00000311348:R228Q	R	+	2	0	ELF3	200248996	0.938000	0.31826	0.996000	0.52242	0.992000	0.81027	3.837000	0.55820	2.659000	0.90383	0.561000	0.74099	CGA	ELF3	-	NULL		0.642	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201982373	1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	0.996	A	A	201982373	G	A	201982373	3	1	38	1	0	0	0	0	1	0	0	0	5067	1058	37	1	774	1	ELF3	1	201982373	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	824	201982373	47268248	31	5235										
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0																																										SO:0001627	intron_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	-	NM_032105		202407190	1	no_errors	ENST00000480184	ensembl	human	novel	70_37	frame_shift_ins	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	38	0	1	1	1	0	0	0	0	0	12382	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-C5-A3HE-01A-21D-A22X-09	424816	202407189	46843432	32	5236										
EPHX1	2052	genome.wustl.edu	37	chr1	226019653	226019653	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taccctcacttcaagactaaGattgaaggtatgtttgcaaa	7	8	2	3	rs1131873	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:226019653G>A	ENST00000366837.4	+	3	553	c.357G>A	c.(355-357)aaG>aaA	p.K119K	EPHX1_ENST00000467015.1_3'UTR|EPHX1_ENST00000272167.5_Silent_p.K119K	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	119					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCAAGACTAAGATTGAAGGTA	0.438													G|||	957	0.191094	0.1165	0.1484	5008	,	,		23249	0.2867		0.162	False		,,,				2504	0.2536																0								G	,	643,3763	275.7+/-272.7	50,543,1610	88	80	83		357,357	3.7	1	1	dbSNP_100	83	1236,7364	247.8+/-275.7	82,1072,3146	no	coding-synonymous,coding-synonymous	EPHX1	NM_000120.3,NM_001136018.2	,	132,1615,4756	AA,AG,GG		14.3721,14.5937,14.4472	,	119/456,119/456	226019653	1879,11127	2203	4300	6503	SO:0001819	synonymous_variant	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.357G>A	1.37:g.226019653G>A			B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.K119	ENST00000366837.4	37	c.357	CCDS1547.1	1																																																																																			EPHX1	-	pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase		0.438	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1	G	NM_000120		226019653	1	no_errors	ENST00000272167	ensembl	human	known	70_37	silent	SNP	1.000	A	A	226019653	G	A	226019653	2	1	38	1	0	0	0	0	0	0	0	1	5191	933	33	1		1	EPHX1	1	226019653	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	23612464	226019653	23230968	33	5237										
GJC2	57165	genome.wustl.edu	37	chr1	228346171	228346171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agtacctgctgtacggcttcGaggtgcgaccgttctttccc	11	13	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:228346171G>A	ENST00000366714.2	+	2	887	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	238					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GTACGGCTTCGAGGTGCGACC	0.652																																																	0													73	74	73					1																	228346171		2203	4300	6503	SO:0001583	missense	57165			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.712G>A	1.37:g.228346171G>A	ENSP00000355675:p.Glu238Lys		O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.E238K	ENST00000366714.2	37	c.712	CCDS1569.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613585	0.46631	.	.	ENSG00000198835	ENST00000366714	D	0.95342	-3.68	4.05	4.05	0.47172	Gap junction protein, cysteine-rich domain (1);	0.201643	0.36409	N	0.002605	D	0.87877	0.6288	N	0.17800	0.525	0.39215	D	0.963389	B	0.29188	0.236	B	0.26202	0.067	D	0.85928	0.1450	10	0.25751	T	0.34	.	12.3286	0.55026	0.0:0.1704:0.8296:0.0	.	238	Q5T442	CXG2_HUMAN	K	238	ENSP00000355675:E238K	ENSP00000355675:E238K	E	+	1	0	GJC2	226412794	1.000000	0.71417	0.997000	0.53966	0.455000	0.32408	4.098000	0.57748	2.112000	0.64535	0.305000	0.20034	GAG	GJC2	-	pfam_Connexin_CCC		0.652	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	G	NM_020435		228346171	1	no_errors	ENST00000366714	ensembl	human	known	70_37	missense	SNP	0.998	A	A	228346171	G	A	228346171	3	1	38	1	0	0	0	0	1	0	0	0	6434	1059	37	1	714	1	GJC2	1	228346171	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2326518	228346171	20904450	34	5238										
OBSCN	84033	genome.wustl.edu	37	chr1	228496035	228496035	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cccgaggacgctggcactgtCtccttccatttgggaaacca	10	14	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:228496035C>T	ENST00000422127.1	+	47	12734	c.12690C>T	c.(12688-12690)gtC>gtT	p.V4230V	OBSCN_ENST00000366709.4_Silent_p.V1349V|OBSCN_ENST00000570156.2_Silent_p.V5187V|OBSCN_ENST00000366707.4_Silent_p.V1864V|OBSCN_ENST00000284548.11_Silent_p.V4230V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4230	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCACTGTCTCCTTCCATT	0.627																																																	0													28	32	30					1																	228496035		2122	4227	6349	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12690C>T	1.37:g.228496035C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V4230	ENST00000422127.1	37	c.12690	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228496035	1	no_errors	ENST00000422127	ensembl	human	known	70_37	silent	SNP	0.996	T	T	228496035	C	T	228496035	2	4	38	1	0	0	0	0	0	0	0	1	10836	900	32	1		1	OBSCN	1	228496035	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	149864	228496035	20754586	35	5239										
RHOU	58480	genome.wustl.edu	37	chr1	228871693	228871693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aagacgagcctggtggtgagCtacaccaccaacggctaccc	11	14	0	2	rs3738073	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:228871693C>T	ENST00000366691.3	+	1	870	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGGTGGTGAGCTACACCACCA	0.751													c|||	646	0.128994	0.0893	0.0951	5008	,	,		7479	0.0427		0.172	False		,,,				2504	0.2515																0										451,3945		35,381,1782	20	25	23		204	3.7	1	1	dbSNP_107	23	1682,6908		177,1328,2790	no	coding-synonymous	RHOU	NM_021205.5		212,1709,4572	TT,TC,CC		19.5809,10.2593,16.4254		68/259	228871693	2133,10853	2198	4295	6493	SO:0001819	synonymous_variant	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.204C>T	1.37:g.228871693C>T				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S68	ENST00000366691.3	37	c.204	CCDS1575.1	1																																																																																			RHOU	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.751	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1	C	NM_021205		228871693	1	no_errors	ENST00000366691	ensembl	human	known	70_37	silent	SNP	1.000	T	T	228871693	C	T	228871693	2	4	38	1	0	0	0	0	0	0	0	1	13375	796	28	4		4	RHOU	1	228871693	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	375658	228871693	20378928	36	5240										
DISC1	27185	genome.wustl.edu	37	chr1	232094594	232094594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaacaagtgtgaaggaaaatActatgaagtacatggaaaca	9	4	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:232094594A>G	ENST00000439617.2	+	10	2055	c.2002A>G	c.(2002-2004)Act>Gct	p.T668A	DISC1_ENST00000535983.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.Y552C	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	668	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAAGGAAAATACTATGAAGTA	0.328																																																	0													124	110	115					1																	232094594		1836	4089	5925	SO:0001583	missense	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2002A>G	1.37:g.232094594A>G	ENSP00000403888:p.Thr668Ala		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.T668A	ENST00000439617.2	37	c.2002		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	4.509|4.509|4.509	0.094517|0.094517|0.094517	0.08632|0.08632|0.08632	.|.|.	.|.|.	ENSG00000162946|ENSG00000162946|ENSG00000162946	ENST00000422590|ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576|ENST00000537876	.|T|T	.|0.09723|0.13307	.|2.95|2.6	5.25|5.25|5.25	1.64|1.64|1.64	0.23874|0.23874|0.23874	.|.|.	.|0.411176|.	.|0.25017|.	.|N|.	.|0.033784|.	T|T|T	0.10766|0.10766|0.10766	0.0263|0.0263|0.0263	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;P;B;P;B;B|B	.|0.37731|0.10296	.|0.009;0.347;0.084;0.607;0.1;0.607;0.208;0.208|0.003	.|B;B;B;B;B;B;B;B|B	.|0.30782|0.15052	.|0.022;0.12;0.05;0.12;0.038;0.12;0.068;0.068|0.012	T|T|T	0.27938|0.27938|0.27938	-1.0059|-1.0059|-1.0059	4|9|8	.|0.02654|0.87932	.|T|D	.|1|0	-0.0362|-0.0362|-0.0362	7.1694|7.1694|7.1694	0.25710|0.25710|0.25710	0.6077:0.0:0.3923:0.0|0.6077:0.0:0.3923:0.0|0.6077:0.0:0.3923:0.0	.|.|.	.|700;546;700;668;546;668;668;668|552	.|C4P096;C4P094;E2QRA4;C4P098;F5H1F1;C4P0A4;Q9NRI5-2;Q9NRI5|C4P0A1	.|.;.;.;.;.;.;.;DISC1_HUMAN|.	M|A|C	70|668;668;700;546|552	.|ENSP00000403888:T668A|ENSP00000440909:Y552C	.|ENSP00000355597:T668A|ENSP00000440909:Y552C	I|T|Y	+|+|+	3|1|2	3|0|0	DISC1|DISC1|DISC1	230161217|230161217|230161217	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.530000|0.530000|0.530000	0.34684|0.34684|0.34684	0.331000|0.331000|0.331000	0.19733|0.19733|0.19733	0.463000|0.463000|0.463000	0.27118|0.27118|0.27118	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|ACT|TAC	DISC1	-	NULL		0.328	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000092351.2	A	NM_018662		232094594	1	no_errors	ENST00000439617	ensembl	human	known	70_37	missense	SNP	0.016	G	G	232094594	A	G	232094594	3	3	38	1	0	0	0	0	1	0	0	0	4548	391	14	5	2772	5	DISC1	1	232094594	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	3222901	232094594	17156027	37	5241										
TFB2M	64216	genome.wustl.edu	37	chr1	246729346	246729346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcgccggcaaatgctttcgcGtcgccgcttcagaccctaaa	9	15	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:246729346G>C	ENST00000366514.4	-	1	280	c.95C>G	c.(94-96)aCg>aGg	p.T32R	CNST_ENST00000366512.3_5'Flank|TFB2M_ENST00000544618.1_Missense_Mutation_p.T32R|CNST_ENST00000366513.4_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	32					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATGCTTTCGCGTCGCCGCTTC	0.622																																																	0													41	46	44					1																	246729346		2203	4300	6503	SO:0001583	missense	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.95C>G	1.37:g.246729346G>C	ENSP00000355471:p.Thr32Arg		Q9H626	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur	p.T32R	ENST00000366514.4	37	c.95	CCDS1627.1	1	.	.	.	.	.	.	.	.	.	.	G	6.069	0.381093	0.11466	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T	0.30981	1.51	3.92	-1.24	0.09435	.	1.309040	0.04960	N	0.461991	T	0.10937	0.0267	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18085	-1.0348	10	0.02654	T	1	-4.4524	0.5356	0.00636	0.2073:0.1718:0.2349:0.386	.	32	Q9H5Q4	TFB2M_HUMAN	R	32	ENSP00000355471:T32R	ENSP00000355471:T32R	T	-	2	0	TFB2M	244795969	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.089000	0.11180	-0.230000	0.09840	-0.362000	0.07510	ACG	TFB2M	-	pirsf_Mt_di-Me-Ado_Trfase_2_prcur		0.622	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB2M	HGNC	protein_coding	OTTHUMT00000096673.1	G	NM_022366		246729346	-1	no_errors	ENST00000366514	ensembl	human	known	70_37	missense	SNP	0.000	C	C	246729346	G	C	246729346	3	2	38	1	0	0	0	0	1	0	0	0	15824	1145	40	2	1127	2	TFB2M	1	246729346	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	14634752	246729346	2521275	38	5242										
OR2M2	391194	genome.wustl.edu	37	chr1	248343929	248343929	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gttttccctgttgcaatcatCattgcttcctatgctcgagt	7	11	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:248343929C>A	ENST00000359682.2	+	1	642	c.642C>A	c.(640-642)atC>atA	p.I214I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGCAATCATCATTGCTTCCT	0.438																																																	0													235	218	224					1																	248343929		2203	4300	6503	SO:0001819	synonymous_variant	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.642C>A	1.37:g.248343929C>A			A3KFT4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I214	ENST00000359682.2	37	c.642	CCDS31106.1	1																																																																																			OR2M2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	C	NM_001004688		248343929	1	no_errors	ENST00000359682	ensembl	human	known	70_37	silent	SNP	0.108	A	A	248343929	C	A	248343929	2	1	38	1	0	0	0	0	0	0	0	1	11034	816	29	3		3	OR2M2	1	248343929	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1614583	248343929	906692	39	5243										
OR2T12	127064	genome.wustl.edu	37	chr1	248458876	248458876	+	Frame_Shift_Del	DEL	T	T	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggggtagtatttctcatcTccataatttcccctggtgtg					rs11339452	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr1:248458876delT	ENST00000317996.1	-	1	4	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E2fs*2(1)|p.E2G(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTCTCATCTCCATAATTTC	0.428													|||unknown(ALL_OTHER_Ns)	1075	0.214657	0.0159	0.245	5008	,	,		14731	0.3591		0.174	False		,,,				2504	0.3548																2	Substitution - Missense(1)|Deletion - Frameshift(1)	lung(1)|pancreas(1)								202,4060		4,194,1933	66	61	62			-2.7	0	1	dbSNP_120	70	1430,6824		123,1184,2820	no	frameshift	OR2T12	NM_001004692.1		127,1378,4753	A1A1,A1R,RR		17.3249,4.7396,13.0393			248458876	1632,10884	2200	4211	6411	SO:0001589	frameshift_variant	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.5delA	1.37:g.248458876delT	ENSP00000324583:p.Glu2fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E2fs	ENST00000317996.1	37	c.5	CCDS31110.1	1																																																																																			OR2T12	-	NULL		0.428	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	T	NM_001004692		248458876	-1	no_errors	ENST00000317996	ensembl	human	known	70_37	frame_shift_del	DEL	0.004	-	-	248458876	T	-	248458876	7	5	38	1	0	1	0	1	0	0	0	0	11043	1551	54	0	960	0	OR2T12	1	248458876	Frame_Shift_Del	DEL	T	TCGA-C5-A3HE-01A-21D-A22X-09	114947	248458876	791745	40	5244										
APOB	338	genome.wustl.edu	37	chr2	21252878	21252878	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgggtccctgtagggtttgtCttatgatagctacagaataa	11	6	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:21252878C>T	ENST00000233242.1	-	11	1489	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	APOB_ENST00000399256.4_Silent_p.K454K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	454	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGGTTTGTCTTATGATAGC	0.393																																																	0													105	104	104					2																	21252878		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1362G>A	2.37:g.21252878C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.K454	ENST00000233242.1	37	c.1362	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21252878	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	0.000	T	T	21252878	C	T	21252878	2	4	38	1	0	0	0	0	0	0	0	1	785	912	32	1		1	APOB	2	21252878	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		21252878	221946495	41	5245										
ZNF513	130557	genome.wustl.edu	37	chr2	27600419	27600419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaaggacctagttcaggatGagtctgtgtggacagcccgg	15	8	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:27600419G>A	ENST00000323703.6	-	4	1817	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_Missense_Mutation_p.S478L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	540					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCAGGATGAGTCTGTGTG	0.607																																																	0													37	39	38					2																	27600419		2203	4300	6503	SO:0001583	missense	130557			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1619C>T	2.37:g.27600419G>A	ENSP00000318373:p.Ser540Leu		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S540L	ENST00000323703.6	37	c.1619	CCDS1751.1	2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614727	0.46631	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.07021	3.23;3.26	4.61	4.61	0.57282	.	0.000000	0.39083	N	0.001477	T	0.05181	0.0138	N	0.08118	0	0.33802	D	0.626856	P	0.47409	0.895	B	0.38056	0.264	T	0.25847	-1.0120	10	0.87932	D	0	-5.1868	16.1523	0.81632	0.0:0.0:1.0:0.0	.	540	Q8N8E2	ZN513_HUMAN	L	540;478	ENSP00000318373:S540L;ENSP00000384874:S478L	ENSP00000318373:S540L	S	-	2	0	ZNF513	27453923	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.046000	0.41260	2.388000	0.81334	0.561000	0.74099	TCA	ZNF513	-	NULL		0.607	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF513	HGNC	protein_coding	OTTHUMT00000215026.2	G	NM_144631		27600419	-1	no_errors	ENST00000323703	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27600419	G	A	27600419	3	1	38	1	0	0	0	0	1	0	0	0	17988	1294	45	1	10	1	ZNF513	2	27600419	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6347541	27600419	215598954	42	5246										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452373	43452373	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacagctcggtcttgtacttCggatggcgagtcaggctgcg	14	11	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:43452373C>T	ENST00000282388.3	-	2	863	c.570G>A	c.(568-570)ccG>ccA	p.P190P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	190	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TCTTGTACTTCGGATGGCGAG	0.647																																																	0													45	42	43					2																	43452373		2203	4300	6503	SO:0001819	synonymous_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.570G>A	2.37:g.43452373C>T			Q53TB4|Q9BSJ3	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.P190	ENST00000282388.3	37	c.570	CCDS1811.1	2																																																																																			ZFP36L2	-	NULL		0.647	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452373	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	silent	SNP	0.977	T	T	43452373	C	T	43452373	2	4	38	1	0	0	0	0	0	0	0	1	17677	871	31	1		1	ZFP36L2	2	43452373	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	15851954	43452373	199747000	43	5247										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452886	43452886	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgaggttggccagggatttCtctgtctgccaaagggaggg	16	7	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:43452886C>G	ENST00000282388.3	-	2	350	c.57G>C	c.(55-57)gaG>gaC	p.E19D	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	19					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCAGGGATTTCTCTGTCTGCC	0.627																																																	0													18	20	19					2																	43452886		2183	4266	6449	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.57G>C	2.37:g.43452886C>G	ENSP00000282388:p.Glu19Asp		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.E19D	ENST00000282388.3	37	c.57	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453116	0.63290	.	.	ENSG00000152518	ENST00000282388	T	0.49139	0.79	5.48	4.59	0.56863	Tis11B-like protein, N-terminal (1);	0.065232	0.64402	D	0.000013	T	0.38532	0.1044	L	0.40543	1.245	0.80722	D	1	B	0.14805	0.011	B	0.19946	0.027	T	0.15009	-1.0452	10	0.27082	T	0.32	-18.1629	11.7373	0.51773	0.1385:0.728:0.1335:0.0	.	19	P47974	TISD_HUMAN	D	19	ENSP00000282388:E19D	ENSP00000282388:E19D	E	-	3	2	ZFP36L2	43306390	0.979000	0.34478	1.000000	0.80357	0.985000	0.73830	0.320000	0.19540	1.274000	0.44362	0.655000	0.94253	GAG	ZFP36L2	-	pfam_Tis11B_N		0.627	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452886	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43452886	C	G	43452886	3	3	38	1	0	0	0	0	1	0	0	0	17677	912	32	1	1431	1	ZFP36L2	2	43452886	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	513	43452886	199746487	44	5248										
KIAA1841	84542	genome.wustl.edu	37	chr2	61361326	61361326	+	Frame_Shift_Del	DEL	G	G	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctaagagcaacagaaaaagtGgtttgagcagtgtgctcttg					rs142269591	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:61361326delG	ENST00000295031.5	+	21	2460	c.2083delG	c.(2083-2085)ggtfs	p.G695fs		NM_032506.2	NP_115895.2	Q6NSI8	K1841_HUMAN	KIAA1841	0										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			cagaaaaagtggTTTGAGCAG	0.393													GG|GG|G|deletion	119	0.023762	0.0038	0.036	5008	,	,		21790	0.001		0.0736	False		,,,				2504	0.0143																0										74,4190		0,74,2058	171	143	152			0.8	0.1	2	dbSNP_134	161	685,7569		38,609,3480	no	frameshift	KIAA1841	NM_032506.2		38,683,5538	A1A1,A1R,RR		8.299,1.7355,6.0633			61361326	759,11759	2203	4286	6489	SO:0001589	frameshift_variant	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000295031.5:c.2083delG	2.37:g.61361326delG	ENSP00000295031:p.Gly695fs		Q49AF0|Q6ZND0|Q96JI6	Frame_Shift_Del	DEL	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.G695fs	ENST00000295031.5	37	c.2083	CCDS1867.1	2																																																																																			KIAA1841	-	NULL		0.393	KIAA1841-001	KNOWN	basic|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000251580.1	G	NM_032506		61361326	1	no_errors	ENST00000295031	ensembl	human	known	70_37	frame_shift_del	DEL	0.088	-	-	61361326	G	-	61361326	7	5	38	1	0	1	0	1	0	0	0	0	8281	1348	47	0	2294	0	KIAA1841	2	61361326	Frame_Shift_Del	DEL	G	TCGA-C5-A3HE-01A-21D-A22X-09	17908440	61361326	181838047	45	5249										
PCBP1	5093	genome.wustl.edu	37	chr2	70314915	70314915	+	Missense_Mutation	SNP	C	C	G													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaagtggactaaatgtgactCtcaccattcggcttcttatg							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:70314915C>G	ENST00000303577.5	+	1	331	c.40C>G	c.(40-42)Ctc>Gtc	p.L14V	PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	14	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						AAATGTGACTCTCACCATTCG	0.577																																					Colon(85;1146 1307 3484 18706 25380)												0													96	98	97					2																	70314915		2203	4300	6503	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.40C>G	2.37:g.70314915C>G	ENSP00000305556:p.Leu14Val		Q13157|Q14975	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.L14V	ENST00000303577.5	37	c.40	CCDS1898.1	2	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168769	0.38315	.	.	ENSG00000169564	ENST00000303577	T	0.39406	1.08	4.14	2.25	0.28309	K Homology (1);K Homology, type 1 (1);	0.079486	0.50627	D	0.000105	T	0.30792	0.0776	L	0.38733	1.17	0.58432	D	0.999999	B	0.26081	0.141	B	0.29942	0.109	T	0.05099	-1.0906	10	0.16896	T	0.51	.	10.9846	0.47514	0.334:0.666:0.0:0.0	.	14	Q15365	PCBP1_HUMAN	V	14	ENSP00000305556:L14V	ENSP00000305556:L14V	L	+	1	0	PCBP1	70168419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.414000	0.59802	0.661000	0.30985	0.650000	0.86243	CTC	PCBP1	-	smart_KH_dom,pfscan_KH_dom_type_1		0.577	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBP1	HGNC	protein_coding	OTTHUMT00000251844.1	C	NM_006196		70314915	1	no_errors	ENST00000303577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70314915	C	G	70314915	3	3	38	1	0	0	0	0	1	0	0	0	11524	913	32	1	42	1	PCBP1	2	70314915	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	8953589	70314915	172884458	46	5250	24	2								
PCBP1	5093	genome.wustl.edu	37	chr2	70314924	70314924	+	Missense_Mutation	SNP	C	C	T													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taaatgtgactctcaccattCggcttcttatgcacggaaag							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:70314924C>T	ENST00000303577.5	+	1	340	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	17	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTCACCATTCGGCTTCTTAT	0.567																																					Colon(85;1146 1307 3484 18706 25380)												0													101	102	102					2																	70314924		2203	4300	6503	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.49C>T	2.37:g.70314924C>T	ENSP00000305556:p.Arg17Trp		Q13157|Q14975	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.R17W	ENST00000303577.5	37	c.49	CCDS1898.1	2	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948812	0.34377	.	.	ENSG00000169564	ENST00000303577	T	0.36520	1.25	4.14	0.12	0.14691	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.066973	0.56097	D	0.000024	T	0.56485	0.1988	H	0.98027	4.13	0.58432	D	0.999995	P	0.44776	0.843	P	0.48952	0.596	T	0.56619	-0.7949	10	0.87932	D	0	.	4.0227	0.09673	0.4732:0.342:0.0:0.1847	.	17	Q15365	PCBP1_HUMAN	W	17	ENSP00000305556:R17W	ENSP00000305556:R17W	R	+	1	2	PCBP1	70168428	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	1.960000	0.40422	0.016000	0.14998	-0.142000	0.14014	CGG	PCBP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.567	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBP1	HGNC	protein_coding	OTTHUMT00000251844.1	C	NM_006196		70314924	1	no_errors	ENST00000303577	ensembl	human	known	70_37	missense	SNP	0.998	T	T	70314924	C	T	70314924	3	4	38	1	0	0	0	0	1	0	0	0	11524	875	31	1	51	1	PCBP1	2	70314924	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	9	70314924	172884449	47	5251	24	2								
CLEC4F	165530	genome.wustl.edu	37	chr2	71046981	71046981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gggtagcctgaacgagcctcGgtatcttgggggctgcagga	17	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:71046981G>A	ENST00000272367.2	-	2	180	c.104C>T	c.(103-105)cCg>cTg	p.P35L	CLEC4F_ENST00000426626.1_Missense_Mutation_p.P35L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	35					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						AACGAGCCTCGGTATCTTGGG	0.572																																					Colon(107;10 2157 6841 26035)												0													56	55	55					2																	71046981		2203	4300	6503	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.104C>T	2.37:g.71046981G>A	ENSP00000272367:p.Pro35Leu		A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P35L	ENST00000272367.2	37	c.104	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825405	0.16749	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01406	4.99;4.93	4.66	-4.46	0.03536	.	1.064270	0.07499	N	0.906908	T	0.00695	0.0023	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.48031	-0.9070	10	0.02654	T	1	.	0.2565	0.00212	0.2518:0.2464:0.2516:0.2503	.	35;35	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	L	35	ENSP00000272367:P35L;ENSP00000390581:P35L	ENSP00000272367:P35L	P	-	2	0	CLEC4F	70900489	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.033000	0.03571	-1.097000	0.03042	0.467000	0.42956	CCG	CLEC4F	-	NULL		0.572	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	G	NM_173535		71046981	-1	no_errors	ENST00000272367	ensembl	human	known	70_37	missense	SNP	0.000	A	A	71046981	G	A	71046981	3	1	38	1	0	0	0	0	1	0	0	0	3521	1116	39	2	1689	2	CLEC4F	2	71046981	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	732057	71046981	172152392	48	5252										
ALMS1	7840	genome.wustl.edu	37	chr2	73613101	73613101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctgcagcggcggcggcggcGaacgtggacgacgtagtggt	20	10	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:73613101G>A	ENST00000264448.6	+	1	216	c.105G>A	c.(103-105)gcG>gcA	p.A35A	ALMS1_ENST00000409009.1_Silent_p.A35A|ALMS1_ENST00000377715.1_Silent_p.A35A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	35	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CGGCGGCGGCGAACGTGGACG	0.667																																																	0													7	11	10					2																	73613101		1910	3991	5901	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.105G>A	2.37:g.73613101G>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.A35	ENST00000264448.6	37	c.105	CCDS42697.1	2																																																																																			ALMS1	-	NULL		0.667	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73613101	1	no_errors	ENST00000264448	ensembl	human	known	70_37	silent	SNP	0.000	A	A	73613101	G	A	73613101	2	1	38	1	0	0	0	0	0	0	0	1	535	1045	37	1		1	ALMS1	2	73613101	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2566120	73613101	169586272	49	5253										
LBX2	85474	genome.wustl.edu	37	chr2	74729814	74729814	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttgggggcggcaggcctgtGagttgttttccgccctggac	16	10	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:74729814G>A	ENST00000377566.4	-	0	0				LBX2_ENST00000341396.2_Intron|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000460508.3_Missense_Mutation_p.S58L|LBX2_ENST00000550249.1_Intron|PCGF1_ENST00000480844.2_5'Flank|RP11-523H20.3_ENST00000606287.1_RNA|LBX2-AS1_ENST00000548978.2_RNA	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GCAGGCCTGTGAGTTGTTTTC	0.592																																																	0													69	74	73					2																	74729814		2203	4300	6503	SO:0001631	upstream_gene_variant	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"Homeoboxes / ANTP class : NKL subclass"	15525	protein-coding gene	gene with protein product		607164	"ladybird homeobox homolog 2 (Drosophila)"			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595		2.37:g.74729814G>A	Exception_encountered		Q7Z5Y8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S58L	ENST00000377566.4	37	c.173		2	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522851	0.13066	.	.	ENSG00000179528	ENST00000460508	D	0.91577	-2.87	3.15	1.32	0.21799	.	.	.	.	.	T	0.81054	0.4743	.	.	.	0.18873	N	0.999989	B	0.13594	0.008	B	0.11329	0.006	T	0.64972	-0.6281	8	0.24483	T	0.36	.	4.5746	0.12226	0.1293:0.2278:0.6428:0.0	.	58	Q6XYB7-2	.	L	58	ENSP00000417116:S58L	ENSP00000417116:S58L	S	-	2	0	LBX2	74583322	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.517000	0.22832	0.355000	0.24131	-0.479000	0.04858	TCA	LBX2	-	NULL		0.592	LBX2-002	KNOWN	basic|appris_principal	protein_coding	LBX2	HGNC	protein_coding	OTTHUMT00000328490.1	G	NM_001009812		74729814	-1	no_errors	ENST00000460508	ensembl	human	known	70_37	missense	SNP	0.007	A	A	74729814	G	A	74729814	1	1	38	0	1	0	0	0	0	0	0	0	8674	1294	45	1		1	LBX2	2	74729814	5'Flank	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1116713	74729814	168469559	50	5254										
ANKRD36	375248	genome.wustl.edu	37	chr2	97877440	97877440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggaagattctgttccgaataTggccacggaaaaaaaggatg	12	6	1	1	rs35711845	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:97877440T>C	ENST00000461153.2	+	58	3675	c.3431T>C	c.(3430-3432)aTg>aCg	p.M1144T	ANKRD36_ENST00000420699.2_Missense_Mutation_p.M1144T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1144										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTTCCGAATATGGCCACGGAA	0.338													.|||	1324	0.264377	0.0885	0.3602	5008	,	,		25668	0.1964		0.5129	False		,,,				2504	0.2485																0								T	THR/MET	250,1134		3,244,445	149	140	143		3431	-2.3	0	2	dbSNP_126	143	1583,1599		99,1385,107	yes	missense	ANKRD36	NM_001164315.1	81	102,1629,552	CC,CT,TT		49.7486,18.0636,40.1445	benign	1144/1942	97877440	1833,2733	692	1591	2283	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3431T>C	2.37:g.97877440T>C	ENSP00000419530:p.Met1144Thr		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1144T	ENST00000461153.2	37	c.3431	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	1.894	-0.454824	0.04540	0.180636	0.497486	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77229	-1.08;-1.08	1.17	-2.3	0.06785	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39941	-0.9589	8	0.23891	T	0.37	.	1.5487	0.02570	0.4242:0.0:0.2415:0.3342	rs35711845;rs62156172	1144	A6QL64	AN36A_HUMAN	T	1144;1144;404	ENSP00000419530:M1144T;ENSP00000391950:M1144T	ENSP00000391950:M1144T	M	+	2	0	ANKRD36	97241167	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.779000	0.26746	-0.591000	0.05859	-0.727000	0.03589	ATG	ANKRD36	-	NULL		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	T			97877440	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.000	C	C	97877440	T	C	97877440	3	2	38	1	0	0	0	0	1	0	0	0	665	1464	51	5	3661	5	ANKRD36	2	97877440	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	23147626	97877440	145321933	51	5255										
INPP4A	3631	genome.wustl.edu	37	chr2	99198162	99198162	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctctgagccccaatttactGattgtgtggctctttctgag	10	10	3	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:99198162G>T	ENST00000523221.1	+	23	2801				INPP4A_ENST00000074304.5_Intron|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000545415.1_Intron|INPP4A_ENST00000409851.3_Intron|INPP4A_ENST00000409540.3_Silent_p.L936L|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAATTTACTGATTGTGTGGC	0.438																																																	0													79	77	77					2																	99198162		1881	4111	5992	SO:0001627	intron_variant	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2801+4556G>T	2.37:g.99198162G>T			O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L936	ENST00000523221.1	37	c.2808	CCDS46369.1	2																																																																																			INPP4A	-	NULL		0.438	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	G	NM_001566		99198162	1	no_errors	ENST00000409540	ensembl	human	known	70_37	silent	SNP	1.000	T	T	99198162	G	T	99198162	1	4	38	0	1	0	0	0	0	0	0	0	7772	1277	45	3		3	INPP4A	2	99198162	Intron	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1320722	99198162	144001211	52	5256										
TMEM87B	84910	genome.wustl.edu	37	chr2	112832536	112832538	+	Splice_Site	DEL	AAT	AAT	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtttcaaaccaggaaagatcAatggtaagcagtttgatttg					rs201146763|rs71385858	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	AAT	AAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:112832536_112832538delAAT	ENST00000283206.4	+	5	867_869	c.498_500delAAT	c.(496-501)tcaatg>tcg	p.M167del		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	167						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AGGAAAGATCAATGGTAAGCAGT	0.3														1297	0.258986	0.2118	0.2954	5008	,	,		17959	0.1835		0.3976	False		,,,				2504	0.2321																0										915,3343		103,709,1317						3.6	0.8		dbSNP_130	41	3245,4989		636,1973,1508	no	coding-near-splice	TMEM87B	NM_032824.2		739,2682,2825	A1A1,A1R,RR		39.4098,21.489,33.3013				4160,8332				SO:0001630	splice_region_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.501+1AAT>-	2.37:g.112832536_112832538delAAT			A8K2M9|Q1RLN2|Q53R54	In_Frame_Del	DEL	pfam_TM_rcpt_euk	p.M167in_frame_del	ENST00000283206.4	37	c.498_500	CCDS33275.1	2																																																																																			TMEM87B	-	NULL		0.3	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	AAT	NM_032824	In_Frame_Del	112832538	1	no_errors	ENST00000283206	ensembl	human	known	70_37	in_frame_del	DEL	0.197:0.117:0.110	-	-	112832538	AAT	-	112832536	8	5	38	1	0	1	0	1	0	0	1	0	16241	117	5	0	516	0	TMEM87B	2	112832536	Splice_Site	DEL	AAT	TCGA-C5-A3HE-01A-21D-A22X-09	13634374	112832536	130366837	53	5257										
RGPD5	727851	genome.wustl.edu	37	chr2	113145814	113145814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggtgcattaaaactaaatcCaaacaaagacccagtggcag	8	9	0	1	rs17041523		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:113145814C>T	ENST00000302558.3	-	20	4899	c.4708G>A	c.(4708-4710)Gga>Aga	p.G1570R	RGPD8_ENST00000409750.1_Missense_Mutation_p.G1430R	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1570					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						AAACTAAATCCAAACAAAGAC	0.338																																																	0													1	1	1					2																	113145814		9	54	63	SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.4708G>A	2.37:g.113145814C>T	ENSP00000306637:p.Gly1570Arg		Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G1570R	ENST00000302558.3	37	c.4708	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	-	8.946	0.966975	0.18659	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.52754	0.66;0.65	2.3	2.3	0.28687	.	.	.	.	.	T	0.62660	0.2446	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.65170	-0.6233	9	0.66056	D	0.02	-28.2303	10.3508	0.43934	0.0:1.0:0.0:0.0	.	1570	O14715	RGPD8_HUMAN	R	1570;1430	ENSP00000306637:G1570R;ENSP00000386511:G1430R	ENSP00000306637:G1570R	G	-	1	0	RGPD8	112862285	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.184000	0.58323	1.299000	0.44798	0.152000	0.16155	GGA	RGPD8	-	NULL		0.338	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113145814	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113145814	C	T	113145814	3	4	38	1	0	0	0	0	1	0	0	0	13319	603	21	4	11619	4	RGPD5	2	113145814	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	313278	113145814	130053559	54	5258										
POTEF	728378	genome.wustl.edu	37	chr2	130877956	130877956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtcgtcgtggtctccagaagTgcccacgttgctcttgccgc	12	14	2	1	rs200786675	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:130877956T>C	ENST00000409914.2	-	3	532	c.133A>G	c.(133-135)Act>Gct	p.T45A	POTEF_ENST00000361163.4_Missense_Mutation_p.T45A|POTEF_ENST00000360967.5_Missense_Mutation_p.T45A|POTEF_ENST00000357462.5_Missense_Mutation_p.T45A	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	45					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTCCAGAAGTGCCCACGTTG	0.592																																																	0								T	ALA/THR	11,4395		0,11,2192	125	131	129		133		0	2		129	145,8445		2,141,4152	no	missense	POTEF	NM_001099771.2	58	2,152,6344	CC,CT,TT		1.688,0.2497,1.2004	benign	45/1076	130877956	156,12840	2203	4295	6498	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.133A>G	2.37:g.130877956T>C	ENSP00000386786:p.Thr45Ala		A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.T45A	ENST00000409914.2	37	c.133	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	7.056	0.565381	0.13498	0.002497	0.01688	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78816	-1.21;-1.21;1.57;1.54	.	.	.	.	.	.	.	.	T	0.47525	0.1450	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	7	0.87932	D	0	.	.	.	.	.	45	A5A3E0	POTEF_HUMAN	A	45	ENSP00000350052:T45A;ENSP00000386786:T45A;ENSP00000354232:T45A;ENSP00000355012:T45A	ENSP00000350052:T45A	T	-	1	0	POTEF	130594426	0.002000	0.14202	0.020000	0.16555	0.020000	0.10135	-0.879000	0.04188	-1.371000	0.02141	-1.353000	0.01230	ACT	POTEF	-	NULL		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	T	NM_001099771		130877956	-1	no_errors	ENST00000357462	ensembl	human	known	70_37	missense	SNP	0.022	C	C	130877956	T	C	130877956	3	2	38	1	0	0	0	0	1	0	0	0	12289	1696	59	5	3154	5	POTEF	2	130877956	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	17732142	130877956	112321417	55	5259										
POTEE	445582	genome.wustl.edu	37	chr2	131984449	131984449	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gagcaaaaacagcaagtcgtGaaatttttaatcaagaaaaa	7	5	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:131984449G>A	ENST00000356920.5	+	4	958	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEE_ENST00000358087.5_Silent_p.V298V|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	288					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGCAAGTCGTGAAATTTTTAA	0.338																																																	0													97	114	108					2																	131984449		1504	2704	4208	SO:0001819	synonymous_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.864G>A	2.37:g.131984449G>A			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.V288	ENST00000356920.5	37	c.864	CCDS46414.1	2																																																																																			POTEE	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.338	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		G	NM_001083538		131984449	1	no_errors	ENST00000356920	ensembl	human	known	70_37	silent	SNP	0.340	A	A	131984449	G	A	131984449	2	1	38	1	0	0	0	0	0	0	0	1	12288	1277	45	1		1	POTEE	2	131984449	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1106493	131984449	111214924	56	5260										
THSD7B	80731	genome.wustl.edu	37	chr2	137852605	137852605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agccggaacgtgaagcacatGgctattggaggtggaaagga	16	6	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:137852605G>A	ENST00000409968.1	+	4	1291	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	THSD7B_ENST00000543459.1_Missense_Mutation_p.M230I|THSD7B_ENST00000272643.3_Missense_Mutation_p.M371I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M340I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	371	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.M340I(1)|p.M371I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAAGCACATGGCTATTGGAG	0.527																																																	2	Substitution - Missense(2)	lung(2)											90	98	95					2																	137852605		1940	4148	6088	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1113G>A	2.37:g.137852605G>A	ENSP00000387145:p.Met371Ile			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.M371I	ENST00000409968.1	37	c.1113		2	.	.	.	.	.	.	.	.	.	.	g	2.364	-0.346024	0.05208	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.84	-0.84	0.10755	.	0.742587	0.13888	N	0.355824	T	0.14313	0.0346	N	0.01417	-0.88	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17198	-1.0377	10	0.25751	T	0.34	.	2.4179	0.04440	0.1026:0.1892:0.3444:0.3637	.	371;340	Q9C0I4;C9JKN6	THS7B_HUMAN;.	I	371;371;340;230	ENSP00000387145:M371I;ENSP00000272643:M371I;ENSP00000413841:M340I;ENSP00000443370:M230I	ENSP00000272643:M371I	M	+	3	0	THSD7B	137569075	0.985000	0.35326	0.018000	0.16275	0.541000	0.35023	0.230000	0.17852	-0.364000	0.08088	-1.499000	0.00960	ATG	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.527	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		137852605	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	0.427	A	A	137852605	G	A	137852605	3	1	38	1	0	0	0	0	1	0	0	0	15910	1348	47	4	1030	4	THSD7B	2	137852605	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5868156	137852605	105346768	57	5261										
NEB	4703	genome.wustl.edu	37	chr2	152436012	152436012	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtccacagggatggagatcTtggctttgtggtcgttgtag	15	6	1	1	rs62174690	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:152436012T>G	ENST00000172853.10	-	78	11749				NEB_ENST00000397345.3_Missense_Mutation_p.K5515T|NEB_ENST00000427231.2_Missense_Mutation_p.K5515T|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.K5515T|NEB_ENST00000604864.1_Missense_Mutation_p.K5515T			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGGAGATCTTGGCTTTGTG	0.527																																																	0													2	2	2					2																	152436012		196	550	746	SO:0001627	intron_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-3144A>C	2.37:g.152436012T>G			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K5515T	ENST00000172853.10	37	c.16544		2	.	.	.	.	.	.	.	.	.	.	T	9.476	1.096883	0.20552	.	.	ENSG00000183091	ENST00000397345;ENST00000427231;ENST00000413693	T;T;T	0.34275	1.37;1.37;1.37	4.73	3.57	0.40892	.	.	.	.	.	T	0.41073	0.1143	M	0.81802	2.56	0.09310	P	1.0	B	0.26775	0.159	B	0.27796	0.083	T	0.53187	-0.8474	8	0.48119	T	0.1	.	10.5212	0.44920	0.0:0.0767:0.0:0.9233	.	245	Q14215	.	T	5515;5515;245	ENSP00000380505:K5515T;ENSP00000416578:K5515T;ENSP00000410961:K245T	ENSP00000380505:K5515T	K	-	2	0	NEB	152144258	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	2.185000	0.42584	0.945000	0.37605	0.421000	0.28195	AAG	NEB	-	NULL		0.527	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		T	NM_004543		152436012	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152436012	T	G	152436012	1	3	38	0	1	0	0	0	0	0	0	0	10326	1609	56	5		5	NEB	2	152436012	Intron	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	14583407	152436012	90763361	58	5262										
XIRP2	129446	genome.wustl.edu	37	chr2	168102429	168102429	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atggaagcacataaaggtatCacaaaaatgaccaaggaaga	9	6	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:168102429C>T	ENST00000409195.1	+	9	4616	c.4527C>T	c.(4525-4527)atC>atT	p.I1509I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I1287I|XIRP2_ENST00000295237.9_Silent_p.I1509I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1334					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAAAGGTATCACAAAAATGA	0.388																																																	0													80	73	76					2																	168102429		1889	4118	6007	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4527C>T	2.37:g.168102429C>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.I1509	ENST00000409195.1	37	c.4527	CCDS42769.1	2																																																																																			XIRP2	-	NULL		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	C	NM_152381		168102429	1	no_errors	ENST00000295237	ensembl	human	known	70_37	silent	SNP	0.003	T	T	168102429	C	T	168102429	2	4	38	1	0	0	0	0	0	0	0	1	17461	816	29	1		1	XIRP2	2	168102429	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	15666417	168102429	75096944	59	5263										
KLHL23	151230	genome.wustl.edu	37	chr2	170591825	170591825	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgcatacacttcccaaattGaaataactaaaagaaatgtt	4	7	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:170591825G>C	ENST00000392647.2	+	2	545	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	KLHL23_ENST00000272797.4_Missense_Mutation_p.E101Q|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	101	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTCCCAAATTGAAATAACTAA	0.373																																																	0													53	57	56					2																	170591825		2201	4300	6501	SO:0001583	missense	151230			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.301G>C	2.37:g.170591825G>C	ENSP00000376419:p.Glu101Gln		Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E101Q	ENST00000392647.2	37	c.301	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	G	4.477	0.088398	0.08583	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.68025	-0.3;-0.3	5.81	4.83	0.62350	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.296018	0.36034	N	0.002828	T	0.38746	0.1052	N	0.10809	0.05	0.31224	N	0.69713	B	0.10296	0.003	B	0.16289	0.015	T	0.38887	-0.9640	9	0.13853	T	0.58	.	3.4802	0.07599	0.2286:0.2774:0.494:0.0	.	101	Q8NBE8	KLH23_HUMAN	Q	101	ENSP00000272797:E101Q;ENSP00000376419:E101Q	ENSP00000272797:E101Q	E	+	1	0	KLHL23	170300071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.490000	0.35573	2.738000	0.93877	0.655000	0.94253	GAA	KLHL23	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.373	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	G	NM_144711		170591825	1	no_errors	ENST00000272797	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170591825	G	C	170591825	3	2	38	1	0	0	0	0	1	0	0	0	8398	1291	45	1	303	1	KLHL23	2	170591825	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2489396	170591825	72607548	60	5264										
UBR3	130507	genome.wustl.edu	37	chr2	170728794	170728794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agttcaaatattccctgtgtCcctaaagacttactgatgat	6	9	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:170728794C>T	ENST00000272793.5	+	2	644	c.594C>T	c.(592-594)gtC>gtT	p.V198V	UBR3_ENST00000418381.1_Silent_p.V198V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	198					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTCCCTGTGTCCCTAAAGACT	0.289																																																	0													132	117	121					2																	170728794		692	1574	2266	SO:0001819	synonymous_variant	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.594C>T	2.37:g.170728794C>T			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V198	ENST00000272793.5	37	c.594		2																																																																																			UBR3	-	NULL		0.289	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	C	NM_172070		170728794	1	no_errors	ENST00000272793	ensembl	human	known	70_37	silent	SNP	0.996	T	T	170728794	C	T	170728794	2	4	38	1	0	0	0	0	0	0	0	1	16934	842	30	1		1	UBR3	2	170728794	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	136969	170728794	72470579	61	5265										
ZAK	51776	genome.wustl.edu	37	chr2	174055646	174055646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttatagctgctgatggagtaTtgaaggtaggactatttctt	11	4	1	2	rs35853276	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:174055646T>C	ENST00000375213.3	+	6	517	c.439T>C	c.(439-441)Ttg>Ctg	p.L147L	MLK7-AS1_ENST00000419609.1_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_Silent_p.L147L|MLTK_ENST00000431503.2_Silent_p.L46L|MLTK_ENST00000409176.2_Silent_p.L147L|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000539448.1_Silent_p.L147L	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TGATGGAGTATTGAAGGTAGG	0.269													T|||	715	0.142772	0.3071	0.0821	5008	,	,		19235	0		0.1103	False		,,,				2504	0.1442																0								T	,	1068,3338	368.3+/-318.6	120,828,1255	67	76	73		439,439	-0.3	0.8	2	dbSNP_126	73	874,7720	195.1+/-240.3	49,776,3472	no	coding-synonymous,coding-synonymous	ZAK	NM_016653.2,NM_133646.2	,	169,1604,4727	CC,CT,TT		10.1699,24.2397,14.9385	,	147/801,147/456	174055646	1942,11058	2203	4297	6500	SO:0001819	synonymous_variant	51776																														ENST00000375213.3:c.439T>C	2.37:g.174055646T>C			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L147	ENST00000375213.3	37	c.439	CCDS42777.1	2																																																																																			MLTK	-	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,pfscan_Prot_kinase_cat_dom		0.269	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	T			174055646	1	no_errors	ENST00000375213	ensembl	human	known	70_37	silent	SNP	0.727	C	C	174055646	T	C	174055646	2	2	38	1	0	0	0	0	0	0	0	1	17543	1490	52	5		5	ZAK	2	174055646	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	3326852	174055646	69143727	62	5266										
TTN	7273	genome.wustl.edu	37	chr2	179484535	179484535	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acttccaccttatctttattGagttctgctaaaaagacaac	4	10	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:179484535G>C	ENST00000591111.1	-	200	41810	c.41586C>G	c.(41584-41586)ctC>ctG	p.L13862L	TTN_ENST00000342175.6_Silent_p.L6630L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.L12935L|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L6563L|TTN_ENST00000460472.2_Silent_p.L6438L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.L15503L|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13862					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTTTATTGAGTTCTGCTA	0.398																																																	0													150	143	145					2																	179484535		1854	4090	5944	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41586C>G	2.37:g.179484535G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L12935	ENST00000591111.1	37	c.38805		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179484535	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.999	C	C	179484535	G	C	179484535	2	2	38	1	0	0	0	0	0	0	0	1	16766	1277	45	1		1	TTN	2	179484535	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5428889	179484535	63714838	63	5267										
MFSD6	54842	genome.wustl.edu	37	chr2	191301100	191301100	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	attcgttacttcattgaattCtgcagtgcccccttttgggg	9	10	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:191301100C>T	ENST00000392328.1	+	3	669	c.345C>T	c.(343-345)ttC>ttT	p.F115F	MFSD6_ENST00000281416.7_Silent_p.F115F	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	115					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCATTGAATTCTGCAGTGCCC	0.443																																																	0													78	80	79					2																	191301100		2203	4300	6503	SO:0001819	synonymous_variant	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.345C>T	2.37:g.191301100C>T			D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F115	ENST00000392328.1	37	c.345	CCDS2306.1	2																																																																																			MFSD6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.443	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1	C			191301100	1	no_errors	ENST00000281416	ensembl	human	known	70_37	silent	SNP	1.000	T	T	191301100	C	T	191301100	2	4	38	1	0	0	0	0	0	0	0	1	9558	912	32	1		1	MFSD6	2	191301100	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	11816565	191301100	51898273	64	5268										
DNAH7	56171	genome.wustl.edu	37	chr2	196834744	196834744	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taccgctgaacatcctgaagAtctccaaatgaataaaattc	5	10	1	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:196834744A>G	ENST00000312428.6	-	17	2233	c.2133T>C	c.(2131-2133)gaT>gaC	p.D711D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	711	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCCTGAAGATCTCCAAATG	0.328																																																	0													88	83	85					2																	196834744		1833	4078	5911	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2133T>C	2.37:g.196834744A>G			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.D711	ENST00000312428.6	37	c.2133	CCDS42794.1	2																																																																																			DNAH7	-	NULL		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	A	NM_018897		196834744	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	silent	SNP	0.198	G	G	196834744	A	G	196834744	2	3	38	1	0	0	0	0	0	0	0	1	4616	330	12	5		5	DNAH7	2	196834744	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	5533644	196834744	46364629	65	5269										
NBEAL1	65065	genome.wustl.edu	37	chr2	204075772	204075772	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atcagatatatgtataatcgGagaacacattgtcacaggca	8	7	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:204075772G>C	ENST00000449802.1	+	53	8123	c.7790G>C	c.(7789-7791)gGa>gCa	p.G2597A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2597										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTATAATCGGAGAACACATT	0.353																																																	0													85	81	82					2																	204075772		1840	4090	5930	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7790G>C	2.37:g.204075772G>C	ENSP00000399903:p.Gly2597Ala		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G2597A	ENST00000449802.1	37	c.7790	CCDS46495.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.59|13.59	2.283477|2.283477	0.40394|0.40394	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000434469|ENST00000449802;ENST00000340268;ENST00000414576	.|T;T	.|0.39997	.|4.45;1.05	5.19|5.19	5.19|5.19	0.71726|0.71726	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.108207	.|0.64402	.|D	.|0.000005	T|T	0.49184|0.49184	0.1542|0.1542	M|M	0.81341|0.81341	2.54|2.54	0.40521|0.40521	D|D	0.980833|0.980833	.|B;P;P	.|0.49635	.|0.321;0.696;0.926	.|B;B;B	.|0.44224	.|0.281;0.254;0.444	T|T	0.55535|0.55535	-0.8126|-0.8126	5|10	.|0.34782	.|T	.|0.22	.|.	14.3422|14.3422	0.66636|0.66636	0.0:0.1482:0.8518:0.0|0.0:0.1482:0.8518:0.0	.|.	.|1307;2597;2586	.|D1MPS9;Q6ZS30;C9JGK5	.|.;NBEL1_HUMAN;.	Q|A	125|2597;2507;612	.|ENSP00000399903:G2597A;ENSP00000388466:G612A	.|ENSP00000344985:G2507A	E|G	+|+	1|2	0|0	NBEAL1|NBEAL1	203784017|203784017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	6.253000|6.253000	0.72453|0.72453	2.402000|2.402000	0.81655|0.81655	0.491000|0.491000	0.48974|0.48974	GAG|GGA	NBEAL1	-	superfamily_WD40_repeat_dom		0.353	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			204075772	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	C	C	204075772	G	C	204075772	3	2	38	1	0	0	0	0	1	0	0	0	10211	1174	41	1	7996	1	NBEAL1	2	204075772	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	7241028	204075772	39123601	66	5270										
OBSL1	23363	genome.wustl.edu	37	chr2	220427347	220427347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	accacacgctccaggcgcacGgctgccacatacaccttgcc	8	19	0	0	rs10804275	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:220427347G>T	ENST00000404537.1	-	8	2786	c.2730C>A	c.(2728-2730)gcC>gcA	p.A910A	OBSL1_ENST00000603926.1_Silent_p.A910A|OBSL1_ENST00000373876.1_Silent_p.A910A|OBSL1_ENST00000265318.4_Silent_p.A910A|OBSL1_ENST00000373873.4_Silent_p.A910A|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000289656.3_Silent_p.A497A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	910	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGGCGCACGGCTGCCACAT	0.672													G|||	850	0.169728	0.0983	0.2608	5008	,	,		17634	0.2123		0.2406	False		,,,				2504	0.0849																0								G	,,	601,3791		49,503,1644	29	35	33		2730,2730,2730	-4.7	0.6	2	dbSNP_120	33	2123,6451		272,1579,2436	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	321,2082,4080	TT,TG,GG		24.7609,13.684,21.0088	,,	910/1026,910/1544,910/1897	220427347	2724,10242	2196	4287	6483	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2730C>A	2.37:g.220427347G>T			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A910	ENST00000404537.1	37	c.2730	CCDS46520.1	2																																																																																			OBSL1	-	smart_Ig_sub,pfscan_Ig-like		0.672	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	G			220427347	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	silent	SNP	0.398	T	T	220427347	G	T	220427347	2	4	38	1	0	0	0	0	0	0	0	1	10837	1103	39	2		2	OBSL1	2	220427347	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	16351575	220427347	22772026	67	5271										
ALPPL2	251	genome.wustl.edu	37	chr2	233272600	233272600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacacgggtgcagcatgcctCgccagccggcgcctacgccc	12	19	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:233272600C>T	ENST00000295453.3	+	5	573	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	174					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAGCATGCCTCGCCAGCCGGC	0.647																																																	0													61	64	63					2																	233272600		2203	4300	6503	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.521C>T	2.37:g.233272600C>T	ENSP00000295453:p.Ser174Leu		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.S174L	ENST00000295453.3	37	c.521	CCDS2491.1	2	.	.	.	.	.	.	.	.	.	.	c	15.41	2.826270	0.50739	.	.	ENSG00000163286	ENST00000295453	D	0.96685	-4.09	2.71	2.71	0.32032	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.96208	3.785	0.58432	D	0.999998	D	0.76494	0.999	D	0.69824	0.966	D	0.99323	1.0907	10	0.87932	D	0	.	13.8099	0.63256	0.0:1.0:0.0:0.0	.	174	P10696	PPBN_HUMAN	L	174	ENSP00000295453:S174L	ENSP00000295453:S174L	S	+	2	0	ALPPL2	232980844	0.997000	0.39634	0.221000	0.23827	0.012000	0.07955	7.137000	0.77295	1.499000	0.48617	0.205000	0.17691	TCG	ALPPL2	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase		0.647	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPPL2	HGNC	protein_coding	OTTHUMT00000257034.2	C	NM_031313		233272600	1	no_errors	ENST00000295453	ensembl	human	known	70_37	missense	SNP	0.994	T	T	233272600	C	T	233272600	3	4	38	1	0	0	0	0	1	0	0	0	549	893	31	1	539	1	ALPPL2	2	233272600	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	12845253	233272600	9926773	68	5272										
ANKMY1	51281	genome.wustl.edu	37	chr2	241492376	241492376	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atggtgccgtagccttctcgGtggctgaggtaaaatgtgcc	14	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr2:241492376G>C	ENST00000272972.3	-	3	382	c.168C>G	c.(166-168)caC>caG	p.H56Q	ANKMY1_ENST00000401804.1_Missense_Mutation_p.H145Q|ANKMY1_ENST00000536462.1_Missense_Mutation_p.H98Q|ANKMY1_ENST00000391987.1_Missense_Mutation_p.H56Q|ANKMY1_ENST00000373320.4_Missense_Mutation_p.H56Q|ANKMY1_ENST00000405523.3_Missense_Mutation_p.H145Q|ANKMY1_ENST00000361678.4_Missense_Mutation_p.H145Q|ANKMY1_ENST00000373318.2_Missense_Mutation_p.H145Q|ANKMY1_ENST00000406958.1_Missense_Mutation_p.H145Q|ANKMY1_ENST00000405002.1_Missense_Mutation_p.H56Q|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Missense_Mutation_p.H224Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	56							metal ion binding (GO:0046872)	p.H56Q(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGCCTTCTCGGTGGCTGAGGT	0.562																																																	1	Substitution - Missense(1)	ovary(1)											127	107	114					2																	241492376		2203	4300	6503	SO:0001583	missense	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.168C>G	2.37:g.241492376G>C	ENSP00000272972:p.His56Gln		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.H56Q	ENST00000272972.3	37	c.168	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152363	0.01700	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002;ENST00000539830;ENST00000441168;ENST00000418708;ENST00000418505	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.07;1.05;1.05;1.05;1.05;1.05;1.05	4.87	0.495	0.16890	.	1.773340	0.03442	N	0.209386	T	0.16685	0.0401	N	0.02225	-0.63	0.09310	N	1	B;B;B;B;B;B;B;B	0.13145	0.003;0.001;0.005;0.005;0.007;0.002;0.005;0.003	B;B;B;B;B;B;B;B	0.13407	0.005;0.004;0.005;0.005;0.009;0.009;0.005;0.005	T	0.12451	-1.0547	10	0.19147	T	0.46	.	1.1453	0.01774	0.1825:0.2818:0.3289:0.2069	.	56;56;98;56;145;145;145;56	Q4ZFV3;C9J176;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;.;ANKY1_HUMAN	Q	145;145;56;145;56;56;224;145;98;145;56;56;98;56;56	ENSP00000362415:H145Q;ENSP00000384555:H145Q;ENSP00000272972:H56Q;ENSP00000355097:H145Q;ENSP00000375847:H56Q;ENSP00000362417:H56Q;ENSP00000383968:H224Q;ENSP00000385887:H145Q;ENSP00000444707:H98Q;ENSP00000385635:H145Q;ENSP00000385145:H56Q;ENSP00000405938:H98Q;ENSP00000407015:H56Q;ENSP00000412094:H56Q	ENSP00000272972:H56Q	H	-	3	2	ANKMY1	241141049	0.009000	0.17119	0.002000	0.10522	0.056000	0.15407	-0.125000	0.10579	0.095000	0.17434	0.655000	0.94253	CAC	ANKMY1	-	NULL		0.562	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	G	NM_017844		241492376	-1	no_errors	ENST00000272972	ensembl	human	known	70_37	missense	SNP	0.001	C	C	241492376	G	C	241492376	3	2	38	1	0	0	0	0	1	0	0	0	634	1252	44	4	2717	4	ANKMY1	2	241492376	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	8219776	241492376	1706997	69	5273										
ATG7	10533	genome.wustl.edu	37	chr3	11596302	11596302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagatctgggacatgagcgaTgatgagaccatctgagatgg	14	7	2	5	rs8154	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:11596302T>C	ENST00000354449.3	+	19	2122	c.2097T>C	c.(2095-2097)gaT>gaC	p.D699D	ATG7_ENST00000446450.2_Silent_p.D619D|ATG7_ENST00000354956.5_Silent_p.D672D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	699					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.D699D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ACATGAGCGATGATGAGACCA	0.637													C|||	1275	0.254593	0.3419	0.2277	5008	,	,		17980	0.1389		0.3201	False		,,,				2504	0.2076																1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						C	,,	1417,2989	685.6+/-404.6	218,981,1004	89	79	82		2016,1857,2097	1.4	0.9	3	dbSNP_100	82	2776,5824	678.6+/-403.5	459,1858,1983	no	coding-synonymous,coding-synonymous,coding-synonymous	ATG7	NM_001136031.2,NM_001144912.1,NM_006395.2	,,	677,2839,2987	CC,CT,TT		32.2791,32.1607,32.239	,,	672/677,619/624,699/704	11596302	4193,8813	2203	4300	6503	SO:0001819	synonymous_variant	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2097T>C	3.37:g.11596302T>C			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7	p.D699	ENST00000354449.3	37	c.2097	CCDS2605.1	3																																																																																			ATG7	-	tigrfam_E1-like_Apg7		0.637	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	T	NM_006395		11596302	1	no_errors	ENST00000354449	ensembl	human	known	70_37	silent	SNP	1.000	C	C	11596302	T	C	11596302	2	2	38	1	0	0	0	0	0	0	0	1	1102	1461	51	5		5	ATG7	3	11596302	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09		11596302	186426128	70	5274										
PPARG	5468	genome.wustl.edu	37	chr3	12421301	12421301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aagaccactcccactcctttGatatcaagcccttcactact	3	16	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:12421301G>C	ENST00000287820.6	+	2	302	c.181G>C	c.(181-183)Gat>Cat	p.D61H	PPARG_ENST00000397015.2_Missense_Mutation_p.D33H|PPARG_ENST00000397026.2_Missense_Mutation_p.D39H|PPARG_ENST00000309576.6_Missense_Mutation_p.D33H|PPARG_ENST00000539812.1_Missense_Mutation_p.D31H|PPARG_ENST00000397010.2_Missense_Mutation_p.D33H|PPARG_ENST00000397000.1_Missense_Mutation_p.D33H|PPARG_ENST00000397012.2_Missense_Mutation_p.D33H	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	61					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCACTCCTTTGATATCAAGCC	0.463			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																	Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													192	167	175					3																	12421301		2203	4300	6503	SO:0001583	missense	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.181G>C	3.37:g.12421301G>C	ENSP00000287820:p.Asp61His		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D61H	ENST00000287820.6	37	c.181	CCDS2609.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639422	0.87760	.	.	ENSG00000132170	ENST00000397010;ENST00000397029;ENST00000309576;ENST00000397015;ENST00000455517;ENST00000397012;ENST00000397026;ENST00000438682;ENST00000397000;ENST00000539812;ENST00000287820	T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.8	5.8	0.92144	.	0.058200	0.64402	D	0.000003	T	0.77824	0.4188	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.969;1.0;0.969	T	0.75747	-0.3209	10	0.46703	T	0.11	.	20.0716	0.97726	0.0:0.0:1.0:0.0	.	61;47;33	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	H	33;33;33;33;33;33;39;33;33;31;61	ENSP00000380205:D33H;ENSP00000380224:D33H;ENSP00000312472:D33H;ENSP00000380210:D33H;ENSP00000411931:D33H;ENSP00000380207:D33H;ENSP00000380221:D39H;ENSP00000392285:D33H;ENSP00000380196:D33H;ENSP00000438940:D31H;ENSP00000287820:D61H	ENSP00000287820:D61H	D	+	1	0	PPARG	12396301	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.870000	0.92336	2.741000	0.93983	0.585000	0.79938	GAT	PPARG	-	prints_1Cnucl_rcpt_G		0.463	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	G	NM_005037		12421301	1	no_errors	ENST00000287820	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12421301	G	C	12421301	3	2	38	1	0	0	0	0	1	0	0	0	12323	1290	45	1	187	1	PPARG	3	12421301	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	824999	12421301	185601129	71	5275										
PLCD1	5333	genome.wustl.edu	37	chr3	38049577	38049577	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggaggaggcatcataatcttCcaccaagaagcggatgaggg	14	8	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:38049577C>A	ENST00000334661.4	-	14	2335	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*	PLCD1_ENST00000463876.1_Nonsense_Mutation_p.E726*	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	705	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCATAATCTTCCACCAAGAAG	0.522																																																	0													113	104	107					3																	38049577		2203	4300	6503	SO:0001587	stop_gained	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2113G>T	3.37:g.38049577C>A	ENSP00000335600:p.Glu705*		B3KR14|Q86VN8	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E726*	ENST00000334661.4	37	c.2176	CCDS2671.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.171164	0.98111	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	.	.	.	5.11	5.11	0.69529	.	0.151633	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.4971	0.90869	0.0:1.0:0.0:0.0	.	.	.	.	X	726;705	.	ENSP00000335600:E705X	E	-	1	0	PLCD1	38024581	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	4.853000	0.62911	2.555000	0.86185	0.655000	0.94253	GAA	PLCD1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.522	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	C			38049577	-1	no_errors	ENST00000463876	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	38049577	C	A	38049577	4	1	38	1	0	0	0	0	0	1	0	0	12055	864	30	3	165	3	PLCD1	3	38049577	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	25628276	38049577	159972853	72	5276										
SCN11A	11280	genome.wustl.edu	37	chr3	38938634	38938634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccaggaccacagtcaggcttCcaagggctccgacagagttg	12	13	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:38938634C>T	ENST00000302328.3	-	14	2303	c.2105G>A	c.(2104-2106)gGa>gAa	p.G702E	SCN11A_ENST00000450244.1_Missense_Mutation_p.G702E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G702E|SCN11A_ENST00000456224.3_Missense_Mutation_p.G702E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	702					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTCAGGCTTCCAAGGGCTCC	0.443																																																	0													60	59	59					3																	38938634		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2105G>A	3.37:g.38938634C>T	ENSP00000307599:p.Gly702Glu		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.G702E	ENST00000302328.3	37	c.2105	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815227	0.90790	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.95	5.95	0.96441	Ion transport (1);	0.053201	0.85682	D	0.000000	D	0.99196	0.9721	M	0.90814	3.15	0.53688	D	0.999979	D	0.89917	1.0	D	0.80764	0.994	D	0.99364	1.0918	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	702	Q9UI33	SCNBA_HUMAN	E	702	ENSP00000307599:G702E;ENSP00000400945:G702E;ENSP00000416757:G702E;ENSP00000408028:G702E	ENSP00000307599:G702E	G	-	2	0	SCN11A	38913638	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.776000	0.85560	2.827000	0.97445	0.650000	0.86243	GGA	SCN11A	-	pfam_Ion_trans_dom		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38938634	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38938634	C	T	38938634	3	4	38	1	0	0	0	0	1	0	0	0	13943	855	30	1	3322	1	SCN11A	3	38938634	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	889057	38938634	159083796	73	5277										
LTF	4057	genome.wustl.edu	37	chr3	46480801	46480801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccatacctgttggtggagcaAcacctgtttcaggcgttcca	10	12	1	0	rs9110	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:46480801A>G	ENST00000231751.4	-	15	2189	c.1894T>C	c.(1894-1896)Ttg>Ctg	p.L632L	LTF_ENST00000417439.1_Silent_p.L630L|LTF_ENST00000426532.2_Silent_p.L588L|LTF_ENST00000493056.1_5'UTR	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	632	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGGTGGAGCAACACCTGTTTC	0.552													G|||	2617	0.522564	0.6452	0.3991	5008	,	,		21524	0.6349		0.3131	False		,,,				2504	0.544																0			GRCh37	CM073189	LTF	M	rs9110	G	,	2549,1857	537.9+/-374.9	733,1083,387	139	106	117		1762,1894	5.1	0.3	3	dbSNP_52	117	2432,6168	698.1+/-405.0	347,1738,2215	no	coding-synonymous,coding-synonymous	LTF	NM_001199149.1,NM_002343.3	,	1080,2821,2602	GG,GA,AA		28.2791,42.1471,38.2977	,	588/667,632/711	46480801	4981,8025	2203	4300	6503	SO:0001819	synonymous_variant	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1894T>C	3.37:g.46480801A>G			A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.L632	ENST00000231751.4	37	c.1894	CCDS33747.1	3																																																																																			LTF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.552	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	A	NM_002343		46480801	-1	no_errors	ENST00000231751	ensembl	human	known	70_37	silent	SNP	0.948	G	G	46480801	A	G	46480801	2	3	38	1	0	0	0	0	0	0	0	1	9102	40	2	5		5	LTF	3	46480801	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	7542167	46480801	151541629	74	5278										
PTH1R	5745	genome.wustl.edu	37	chr3	46945099	46945099	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acgaggaggcctctgggcctGagcggccacctgccctgcta	14	15	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:46945099G>C	ENST00000313049.5	+	14	1938	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	PTH1R_ENST00000449590.1_Missense_Mutation_p.E579Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.E579Q|PTH1R_ENST00000430002.2_Missense_Mutation_p.E579Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	579					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CTCTGGGCCTGAGCGGCCACC	0.632																																																	0													73	83	80					3																	46945099		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1735G>C	3.37:g.46945099G>C	ENSP00000321999:p.Glu579Gln		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.E579Q	ENST00000313049.5	37	c.1735	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644892	0.29246	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T	0.78481	0.65;0.65;0.65;0.65;-1.18	5.02	2.18	0.27775	.	.	.	.	.	T	0.57373	0.2049	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.41106	-0.9527	9	0.25751	T	0.34	.	5.4122	0.16354	0.1726:0.3213:0.5061:0.0	.	579	Q03431	PTH1R_HUMAN	Q	579;579;579;579;884;168	ENSP00000402723:E579Q;ENSP00000411424:E579Q;ENSP00000413774:E579Q;ENSP00000321999:E579Q;ENSP00000396176:E168Q	ENSP00000321999:E579Q	E	+	1	0	PTH1R	46920103	1.000000	0.71417	0.128000	0.21923	0.888000	0.51559	3.182000	0.50910	0.368000	0.24481	-0.302000	0.09304	GAG	PTH1R	-	NULL		0.632	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	G	NM_000316		46945099	1	no_errors	ENST00000313049	ensembl	human	known	70_37	missense	SNP	0.113	C	C	46945099	G	C	46945099	3	2	38	1	0	0	0	0	1	0	0	0	12786	1291	45	1	1789	1	PTH1R	3	46945099	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	464298	46945099	151077331	75	5279										
MAP4	4134	genome.wustl.edu	37	chr3	47956424	47956424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctttttccccgttcctgtgaCggtttctaaaggtaataaca	7	10	1	1	rs1137524	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:47956424C>T	ENST00000360240.6	-	8	2400	c.1882G>A	c.(1882-1884)Gtc>Atc	p.V628I	MAP4_ENST00000395734.3_Missense_Mutation_p.V628I|MAP4_ENST00000426837.2_Missense_Mutation_p.V645I|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	628			V -> I (in dbSNP:rs1137524). {ECO:0000269|PubMed:1718985, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:20068231}.		cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GTTCCTGTGACGGTTTCTAAA	0.443													C|||	1947	0.388778	0.5628	0.3963	5008	,	,		18715	0.2847		0.3002	False		,,,				2504	0.3466																0								C	ILE/VAL,ILE/VAL	2353,2053	607.5+/-391.0	627,1099,477	127	132	130		1882,1882	0.4	0	3	dbSNP_86	130	2696,5904	431.8+/-356.9	429,1838,2033	yes	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	1056,2937,2510	TT,TC,CC		31.3488,46.5956,38.8205	probably-damaging,probably-damaging	628/1136,628/1153	47956424	5049,7957	2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1882G>A	3.37:g.47956424C>T	ENSP00000353375:p.Val628Ile		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.V628I	ENST00000360240.6	37	c.1882	CCDS33750.1	3	736	0.336996336996337	242	0.491869918699187	129	0.356353591160221	144	0.2517482517482518	221	0.29155672823219	C	6.223	0.409250	0.11812	0.534044	0.313488	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.10192	3.1;2.9;3.1	4.42	0.416	0.16416	.	.	.	.	.	T	0.00012	0.0000	M	0.72118	2.19	0.80722	P	0.0	B;B;P	0.35208	0.137;0.216;0.49	B;B;B	0.22152	0.017;0.024;0.038	T	0.40496	-0.9560	8	0.34782	T	0.22	-1.0291	1.6979	0.02866	0.1672:0.4786:0.1625:0.1917	rs1137524;rs2230170;rs3201296;rs6442089;rs11548143;rs17434449;rs52792140;rs59940954;rs6442089	605;628;628	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	I	628;645;628	ENSP00000379083:V628I;ENSP00000407602:V645I;ENSP00000353375:V628I	ENSP00000353375:V628I	V	-	1	0	MAP4	47931428	0.019000	0.18553	0.014000	0.15608	0.015000	0.08874	-0.083000	0.11286	-0.054000	0.13266	-1.067000	0.02272	GTC	MAP4	-	NULL		0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	C	NM_002375		47956424	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	missense	SNP	0.021	T	T	47956424	C	T	47956424	3	4	38	1	0	0	0	0	1	0	0	0	9281	536	19	2	2983	2	MAP4	3	47956424	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1011325	47956424	150066006	76	5280										
BSN	8927	genome.wustl.edu	37	chr3	49698953	49698953	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cactataccagtctggagcaGaacgttcctcgaaactacgt	8	12	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:49698953G>A	ENST00000296452.4	+	6	9789	c.9675G>A	c.(9673-9675)caG>caA	p.Q3225Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3225					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTCTGGAGCAGAACGTTCCTC	0.592																																																	0													108	105	106					3																	49698953		2203	4300	6503	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9675G>A	3.37:g.49698953G>A			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q3225	ENST00000296452.4	37	c.9675	CCDS2800.1	3																																																																																			BSN	-	NULL		0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49698953	1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49698953	G	A	49698953	2	1	38	1	0	0	0	0	0	0	0	1	1533	933	33	1		1	BSN	3	49698953	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1742529	49698953	148323477	77	5281										
IQCF1	132141	genome.wustl.edu	37	chr3	51928921	51928921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccacttcattcctttattgaGaagggaatacactctgtcac	6	11	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:51928921G>C	ENST00000310914.5	-	4	665	c.603C>G	c.(601-603)ttC>ttG	p.F201L		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	201										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTTATTGAGAAGGGAATAC	0.483																																																	0													67	67	67					3																	51928921		2203	4300	6503	SO:0001583	missense	132141			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.603C>G	3.37:g.51928921G>C	ENSP00000307958:p.Phe201Leu		Q8N711	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.F201L	ENST00000310914.5	37	c.603	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.888968	0.00527	.	.	ENSG00000173389	ENST00000310914	T	0.20463	2.07	4.06	-0.0151	0.13977	.	0.280527	0.25777	N	0.028379	T	0.03871	0.0109	N	0.01128	-1	0.20403	N	0.999902	B	0.02656	0.0	B	0.01281	0.0	T	0.36432	-0.9748	10	0.02654	T	1	-2.3814	2.8033	0.05420	0.3614:0.0:0.4362:0.2024	.	201	Q8N6M8	IQCF1_HUMAN	L	201	ENSP00000307958:F201L	ENSP00000307958:F201L	F	-	3	2	IQCF1	51903961	1.000000	0.71417	0.996000	0.52242	0.059000	0.15707	0.627000	0.24506	-0.017000	0.14103	0.448000	0.29417	TTC	IQCF1	-	NULL		0.483	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	HGNC	protein_coding	OTTHUMT00000346568.1	G	NM_152397		51928921	-1	no_errors	ENST00000310914	ensembl	human	known	70_37	missense	SNP	0.996	C	C	51928921	G	C	51928921	3	2	38	1	0	0	0	0	1	0	0	0	7827	933	33	1	18	1	IQCF1	3	51928921	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2229968	51928921	146093509	78	5282										
NEK4	6787	genome.wustl.edu	37	chr3	52800349	52800349	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcttgttaggaagacattttGagttttcagatctcgatgaa	9	5	3	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:52800349G>C	ENST00000233027.5	-	3	605	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	NEK4_ENST00000535191.1_Missense_Mutation_p.Q46E|NEK4_ENST00000383721.4_Missense_Mutation_p.Q135E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AAGACATTTTGAGTTTTCAGA	0.358																																																	0													202	177	186					3																	52800349		2203	4300	6503	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.403C>G	3.37:g.52800349G>C	ENSP00000233027:p.Gln135Glu		A5YM70|B2R633|B7Z200|Q6P576	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q135E	ENST00000233027.5	37	c.403	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668831	0.88348	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.20069	2.12;2.1;2.12;2.1	5.95	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	N	0.04655	-0.195	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.993;0.996	T	0.43798	-0.9369	10	0.72032	D	0.01	.	14.9996	0.71462	0.068:0.0:0.932:0.0	.	46;135;135	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	E	135;46;135;46	ENSP00000233027:Q135E;ENSP00000437703:Q46E;ENSP00000373227:Q135E;ENSP00000419666:Q46E	ENSP00000233027:Q135E	Q	-	1	0	NEK4	52775389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	1.521000	0.48983	0.655000	0.94253	CAA	NEK4	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.358	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	G	NM_003157		52800349	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52800349	G	C	52800349	3	2	38	1	0	0	0	0	1	0	0	0	10350	1299	45	1	2178	1	NEK4	3	52800349	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	871428	52800349	145222081	79	5283										
SFMBT1	51460	genome.wustl.edu	37	chr3	52941132	52941132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtcagaaaatgaaaaggtgcGaagctccctttttctccttt	8	9	2	2	rs549341438		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:52941132G>A	ENST00000394752.3	-	19	2666	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R762C|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R762C|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R762C	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	762					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAAAAGGTGCGAAGCTCCCTT	0.383													G|||	1	0.000199681	0	0	5008	,	,		17975	0		0	False		,,,				2504	0.001																0													153	153	153					3																	52941132		2203	4300	6503	SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2284C>T	3.37:g.52941132G>A	ENSP00000378235:p.Arg762Cys		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.R762C	ENST00000394752.3	37	c.2284	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256622	0.59321	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.15718	2.4;2.4;2.51;2.4	6.04	5.16	0.70880	.	0.171869	0.51477	D	0.000089	T	0.19327	0.0464	L	0.56769	1.78	0.58432	D	0.999999	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.02208	-1.1195	10	0.72032	D	0.01	.	11.4062	0.49900	0.0:0.1276:0.7231:0.1492	.	762;762	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	C	762	ENSP00000378235:R762C;ENSP00000350789:R762C;ENSP00000296295:R762C;ENSP00000378233:R762C	ENSP00000296295:R762C	R	-	1	0	SFMBT1	52916172	0.999000	0.42202	0.014000	0.15608	0.976000	0.68499	2.656000	0.46716	1.546000	0.49388	0.563000	0.77884	CGC	SFMBT1	-	NULL		0.383	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52941132	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	missense	SNP	0.976	A	A	52941132	G	A	52941132	3	1	38	1	0	0	0	0	1	0	0	0	14187	1058	37	1	328	1	SFMBT1	3	52941132	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	140783	52941132	145081298	80	5284										
SFMBT1	51460	genome.wustl.edu	37	chr3	52941608	52941608	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gggtattatcaacagatgcaGaggagcgtttcttcttatga	11	6	3	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:52941608G>A	ENST00000394752.3	-	18	2430	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	SFMBT1_ENST00000394750.1_Missense_Mutation_p.S683F|SFMBT1_ENST00000296295.6_Missense_Mutation_p.S683F|SFMBT1_ENST00000358080.2_Missense_Mutation_p.S683F	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	683					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AACAGATGCAGAGGAGCGTTT	0.463																																																	0													130	133	132					3																	52941608		2203	4300	6503	SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2048C>T	3.37:g.52941608G>A	ENSP00000378235:p.Ser683Phe		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.S683F	ENST00000394752.3	37	c.2048	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.159141	0.94686	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.18502	2.21;2.21;2.26;2.21	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.969	T	0.35151	-0.9800	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	683;683	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	F	683	ENSP00000378235:S683F;ENSP00000350789:S683F;ENSP00000296295:S683F;ENSP00000378233:S683F	ENSP00000296295:S683F	S	-	2	0	SFMBT1	52916648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.347000	0.97059	2.941000	0.99782	0.655000	0.94253	TCT	SFMBT1	-	NULL		0.463	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52941608	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52941608	G	A	52941608	3	1	38	1	0	0	0	0	1	0	0	0	14187	942	33	1	568	1	SFMBT1	3	52941608	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	476	52941608	145080822	81	5285										
CRYBG3	131544	genome.wustl.edu	37	chr3	97660064	97660064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcactggaagtctagcagacAccagggcaacatctgtgtgc	11	11	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:97660064A>G	ENST00000182096.4	+	17	2798	c.2734A>G	c.(2734-2736)Acc>Gcc	p.T912A	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.T119A	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2860							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCTAGCAGACACCAGGGCAAC	0.458																																																	0													118	113	114					3																	97660064		1882	4105	5987	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2734A>G	3.37:g.97660064A>G	ENSP00000182096:p.Thr912Ala		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.T912A	ENST00000182096.4	37	c.2734		3	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287948	0.23478	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	T;T;T	0.79454	1.06;-1.27;1.06	6.07	-1.29	0.09288	Ricin B-related lectin (1);Ricin B lectin (2);	0.695097	0.12618	N	0.453278	T	0.49321	0.1550	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.25106	T	0.35	.	1.9996	0.03464	0.4503:0.2117:0.2349:0.103	.	912	Q68DQ2	CRBG3_HUMAN	A	912;118;119	ENSP00000182096:T912A;ENSP00000418420:T118A;ENSP00000374273:T119A	ENSP00000182096:T912A	T	+	1	0	CRYBG3	99142754	0.000000	0.05858	0.138000	0.22173	0.765000	0.43378	-0.531000	0.06171	0.170000	0.19704	0.477000	0.44152	ACC	CRYBG3	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin		0.458	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	A	NM_153605		97660064	1	no_errors	ENST00000182096	ensembl	human	known	70_37	missense	SNP	0.005	G	G	97660064	A	G	97660064	3	3	38	1	0	0	0	0	1	0	0	0	3918	159	6	5	2800	5	CRYBG3	3	97660064	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	44718456	97660064	100362366	82	5286										
RG9MTD1	54931	genome.wustl.edu	37	chr3	101284448	101284448	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aattgcttttaacatcaacaGaaaagtctcatgtagattta	5	6	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:101284448G>A	ENST00000309922.6	+	2	977	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	275	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										AACATCAACAGAAAAGTCTCA	0.323																																																	0													79	79	79					3																	101284448		1826	4069	5895	SO:0001583	missense	54931			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.823G>A	3.37:g.101284448G>A	ENSP00000312356:p.Glu275Lys		Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase	p.E275K	ENST00000309922.6	37	c.823	CCDS43122.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.085349	0.94100	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.26957	1.7;1.7	6.17	6.17	0.99709	.	0.200887	0.52532	D	0.000072	T	0.54127	0.1839	M	0.76574	2.34	0.58432	D	0.999999	D	0.67145	0.996	D	0.69479	0.964	T	0.46400	-0.9194	10	0.51188	T	0.08	-4.6168	20.8794	0.99867	0.0:0.0:1.0:0.0	.	275	Q7L0Y3	MRRP1_HUMAN	K	275	ENSP00000312356:E275K;ENSP00000419389:E275K	ENSP00000312356:E275K	E	+	1	0	RG9MTD1	102767138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.261000	0.72509	2.941000	0.99782	0.655000	0.94253	GAA	TRMT10C	-	pfam_tRNA_m1G_MeTrfase		0.323	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	HGNC	protein_coding	OTTHUMT00000353400.2	G	NM_017819		101284448	1	no_errors	ENST00000309922	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101284448	G	A	101284448	3	1	38	1	0	0	0	0	1	0	0	0	13301	943	33	1	825	1	RG9MTD1	3	101284448	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	3624384	101284448	96737982	83	5287										
PLCXD2	257068	genome.wustl.edu	37	chr3	111427075	111427075	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttcttacacagcacccccagGagattatcttcctggatttc	6	13	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:111427075G>C	ENST00000477665.1	+	2	790	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	PLCXD2_ENST00000393934.3_Missense_Mutation_p.E156Q	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	156	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCACCCCCAGGAGATTATCTT	0.502																																																	0													119	117	118					3																	111427075		2203	4300	6503	SO:0001583	missense	257068			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.466G>C	3.37:g.111427075G>C	ENSP00000420686:p.Glu156Gln		Q96N12	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.E156Q	ENST00000477665.1	37	c.466	CCDS54619.1	3	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699394	0.68501	.	.	ENSG00000240891	ENST00000393934;ENST00000477665;ENST00000468174	T;T	0.64803	-0.12;-0.12	5.62	5.62	0.85841	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	.	.	.	.	D	0.86062	0.5843	H	0.96269	3.795	0.53005	D	0.999968	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.996	D	0.89761	0.3947	9	0.72032	D	0.01	-26.6371	17.5138	0.87767	0.0:0.0:1.0:0.0	.	66;156;156	C9JB87;Q0VAA5;Q0VAA5-2	.;PLCX2_HUMAN;.	Q	156;156;66	ENSP00000377511:E156Q;ENSP00000420686:E156Q	ENSP00000377511:E156Q	E	+	1	0	PLCXD2	112909765	1.000000	0.71417	0.994000	0.49952	0.648000	0.38561	7.786000	0.85741	2.804000	0.96469	0.655000	0.94253	GAG	PLCXD2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	HGNC	protein_coding	OTTHUMT00000354322.1	G	NM_153268		111427075	1	no_errors	ENST00000477665	ensembl	human	known	70_37	missense	SNP	0.996	C	C	111427075	G	C	111427075	3	2	38	1	0	0	0	0	1	0	0	0	12066	1175	41	1	472	1	PLCXD2	3	111427075	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	10142627	111427075	86595355	84	5288										
DRD3	1814	genome.wustl.edu	37	chr3	113850099	113850099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cttctaagctgagcttgggcGctatggtgggactcagggaa	15	8	2	1	rs201876283		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:113850099G>A	ENST00000460779.1	-	7	1161	c.872C>T	c.(871-873)gCg>gTg	p.A291V	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Missense_Mutation_p.A291V|DRD3_ENST00000467632.1_Missense_Mutation_p.A291V	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	291					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGCTTGGGCGCTATGGTGGG	0.542																																																	0													198	203	201					3																	113850099		2203	4300	6503	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.872C>T	3.37:g.113850099G>A	ENSP00000419402:p.Ala291Val		A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.A291V	ENST00000460779.1	37	c.872	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005881	0.35415	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.72505	-0.66;-0.66;-0.66	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.216999	0.39834	N	0.001249	T	0.61887	0.2383	L	0.46741	1.465	0.36969	D	0.893749	B;B;B	0.30526	0.028;0.283;0.283	B;B;B	0.22880	0.028;0.042;0.042	T	0.61969	-0.6953	10	0.14656	T	0.56	.	16.9919	0.86356	0.0:0.0:1.0:0.0	.	291;291;291	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	V	291	ENSP00000419402:A291V;ENSP00000420662:A291V;ENSP00000373169:A291V	ENSP00000373169:A291V	A	-	2	0	DRD3	115332789	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.877000	0.63086	2.866000	0.98385	0.650000	0.86243	GCG	DRD3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	G	NM_000796.3		113850099	-1	no_errors	ENST00000383673	ensembl	human	known	70_37	missense	SNP	0.998	A	A	113850099	G	A	113850099	3	1	38	1	0	0	0	0	1	0	0	0	4768	1087	38	2	338	2	DRD3	3	113850099	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2423024	113850099	84172331	85	5289										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133738	119133738	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaggaattctgaccctcttCagccccaggcacccaggaga	10	14	3	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:119133738C>T	ENST00000264245.4	+	12	3494	c.2962C>T	c.(2962-2964)Cag>Tag	p.Q988*		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	988					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGACCCTCTTCAGCCCCAGGC	0.537																																					Pancreas(7;176 297 5394 51128 51241)												0													67	68	68					3																	119133738		1898	4133	6031	SO:0001587	stop_gained	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2962C>T	3.37:g.119133738C>T	ENSP00000264245:p.Gln988*		Q9ULL6	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q988*	ENST00000264245.4	37	c.2962	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.467947	0.98825	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	.	.	.	5.05	4.15	0.48705	.	0.591514	0.15446	N	0.261954	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.4571	0.55710	0.1686:0.8314:0.0:0.0	.	.	.	.	X	988	.	ENSP00000264245:Q988X	Q	+	1	0	ARHGAP31	120616428	0.998000	0.40836	0.721000	0.30653	0.378000	0.30076	1.444000	0.35068	1.298000	0.44778	0.561000	0.74099	CAG	ARHGAP31	-	NULL		0.537	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	C			119133738	1	no_errors	ENST00000264245	ensembl	human	known	70_37	nonsense	SNP	0.481	T	T	119133738	C	T	119133738	4	4	38	1	0	0	0	0	0	1	0	0	880	827	29	1	3008	1	ARHGAP31	3	119133738	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5283639	119133738	78888692	86	5290										
GOLGB1	2804	genome.wustl.edu	37	chr3	121412667	121412667	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tagaacactgcaattatcttCtttgagtctaatttcttctt	4	8	5	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:121412667C>G	ENST00000340645.5	-	13	6813	c.6688G>C	c.(6688-6690)Gaa>Caa	p.E2230Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2235Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2230					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAATTATCTTCTTTGAGTCTA	0.363																																																	0													230	207	215					3																	121412667		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6688G>C	3.37:g.121412667C>G	ENSP00000341848:p.Glu2230Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2230Q	ENST00000340645.5	37	c.6688	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998685	0.35226	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.26067	1.77;1.76	5.75	5.75	0.90469	.	0.106278	0.41294	D	0.000912	T	0.42832	0.1220	M	0.68952	2.095	0.49582	D	0.999807	D;P;P;D	0.55800	0.973;0.879;0.879;0.973	P;P;P;P	0.55011	0.71;0.448;0.448;0.766	T	0.06826	-1.0805	10	0.24483	T	0.36	.	17.4537	0.87600	0.0:1.0:0.0:0.0	.	2155;2235;2235;2230	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Q	2230;2235	ENSP00000341848:E2230Q;ENSP00000377275:E2235Q	ENSP00000341848:E2230Q	E	-	1	0	GOLGB1	122895357	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.888000	0.56204	2.716000	0.92895	0.655000	0.94253	GAA	GOLGB1	-	NULL		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121412667	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121412667	C	G	121412667	3	3	38	1	0	0	0	0	1	0	0	0	6584	922	32	1	3131	1	GOLGB1	3	121412667	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2278929	121412667	76609763	87	5291										
GOLGB1	2804	genome.wustl.edu	37	chr3	121433719	121433719	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttaattacctgtgtgccctCattataaacatctgggaaag	7	8	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:121433719C>A	ENST00000340645.5	-	10	1503	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E465*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	460					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTGTGCCCTCATTATAAACA	0.368																																																	0													126	126	126					3																	121433719		2203	4300	6503	SO:0001587	stop_gained	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1378G>T	3.37:g.121433719C>A	ENSP00000341848:p.Glu460*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E460*	ENST00000340645.5	37	c.1378	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.394566|5.394566	0.96009|0.96009	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	.|.	.|.	.|.	5.05|5.05	1.98|1.98	0.26296|0.26296	.|.	0.214234|.	0.31963|.	N|.	0.006782|.	.|T	.|0.39911	.|0.1096	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46386	.|-0.9195	.|3	0.11182|.	T|.	0.66|.	.|.	6.2053|6.2053	0.20600|0.20600	0.0:0.5002:0.3904:0.1093|0.0:0.5002:0.3904:0.1093	.|.	.|.	.|.	.|.	X|I	460;465;424;272|330	.|.	ENSP00000341848:E460X|.	E|M	-|-	1|3	0|0	GOLGB1|GOLGB1	122916409|122916409	0.022000|0.022000	0.18835|0.18835	0.504000|0.504000	0.27639|0.27639	0.768000|0.768000	0.43524|0.43524	0.377000|0.377000	0.20552|0.20552	0.635000|0.635000	0.30488|0.30488	-0.282000|-0.282000	0.10007|0.10007	GAG|ATG	GOLGB1	-	NULL		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121433719	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	nonsense	SNP	0.284	A	A	121433719	C	A	121433719	4	1	38	1	0	0	0	0	0	1	0	0	6584	835	29	3	8453	3	GOLGB1	3	121433719	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	21052	121433719	76588711	88	5292										
NPHP3	27031	genome.wustl.edu	37	chr3	132401567	132401567	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctaagcacagctaaatttttCagtgtttctccaactcgagg	7	10	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:132401567C>T	ENST00000337331.5	-	26	3878	c.3792G>A	c.(3790-3792)ctG>ctA	p.L1264L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1264					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTAAATTTTTCAGTGTTTCTC	0.338																																																	0													103	108	107					3																	132401567		2203	4300	6503	SO:0001819	synonymous_variant	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3792G>A	3.37:g.132401567C>T			Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1264	ENST00000337331.5	37	c.3792	CCDS3078.1	3																																																																																			NPHP3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.338	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	C	NM_153240		132401567	-1	no_errors	ENST00000337331	ensembl	human	known	70_37	silent	SNP	0.998	T	T	132401567	C	T	132401567	2	4	38	1	0	0	0	0	0	0	0	1	10604	813	29	1		1	NPHP3	3	132401567	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	10967848	132401567	65620863	89	5293										
IL12A	3592	genome.wustl.edu	37	chr3	159707994	159707994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggtcctcctggaccacctCagtttggccagaaacctccc	8	17	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:159707994C>T	ENST00000305579.2	+	2	466	c.159C>T	c.(157-159)ctC>ctT	p.L53L	IL12A_ENST00000466512.1_Silent_p.L53L|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Silent_p.L53L	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	19					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGACCACCTCAGTTTGGCCA	0.612																																																	0													81	74	76					3																	159707994		2203	4300	6503	SO:0001819	synonymous_variant	3592			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.159C>T	3.37:g.159707994C>T			Q96QZ1	Silent	SNP	pfam_IL12,superfamily_4_helix_cytokine-like_core	p.L53	ENST00000305579.2	37	c.159	CCDS3187.1	3																																																																																			IL12A	-	pfam_IL12		0.612	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12A	HGNC	protein_coding	OTTHUMT00000352602.2	C	NM_000882		159707994	1	no_errors	ENST00000305579	ensembl	human	known	70_37	silent	SNP	0.000	T	T	159707994	C	T	159707994	2	4	38	1	0	0	0	0	0	0	0	1	7644	813	29	1		1	IL12A	3	159707994	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	27306427	159707994	38314436	90	5294										
ZBBX	79740	genome.wustl.edu	37	chr3	166958669	166958669	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgtactgctctcagaaagtGacagcaaagactgaattttg	9	8	1	4	rs200693691		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:166958669G>A	ENST00000392766.2	-	21	2655	c.2315C>T	c.(2314-2316)tCa>tTa	p.S772L	ZBBX_ENST00000392764.1_Missense_Mutation_p.S743L|ZBBX_ENST00000392767.2_Missense_Mutation_p.S772L|ZBBX_ENST00000307529.5_Missense_Mutation_p.S811L|ZBBX_ENST00000455345.2_Missense_Mutation_p.S811L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	772						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCAGAAAGTGACAGCAAAGA	0.368																																																	0													141	134	136					3																	166958669		1916	4125	6041	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2315C>T	3.37:g.166958669G>A	ENSP00000376519:p.Ser772Leu		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.S811L	ENST00000392766.2	37	c.2432	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338491	0.60963	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.99	4.99	0.66335	.	0.483180	0.17355	N	0.177275	T	0.46814	0.1412	L	0.40543	1.245	0.32208	N	0.576857	P;P	0.40180	0.705;0.58	B;B	0.44044	0.439;0.254	T	0.59752	-0.7395	10	0.87932	D	0	-8.9268	13.9602	0.64175	0.0:0.0:1.0:0.0	.	811;772	A8MT70-2;A8MT70	.;ZBBX_HUMAN	L	772;772;811;811;743	ENSP00000376519:S772L;ENSP00000376520:S772L;ENSP00000390232:S811L;ENSP00000305065:S811L;ENSP00000376517:S743L	ENSP00000305065:S811L	S	-	2	0	ZBBX	168441363	0.849000	0.29639	1.000000	0.80357	0.978000	0.69477	1.652000	0.37313	2.752000	0.94435	0.557000	0.71058	TCA	ZBBX	-	NULL		0.368	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		166958669	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166958669	G	A	166958669	3	1	38	1	0	0	0	0	1	0	0	0	17547	1294	45	1	91	1	ZBBX	3	166958669	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	7250675	166958669	31063761	91	5295										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	38	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	11977422	178936091	19086339	92	5296										
PEX5L	51555	genome.wustl.edu	37	chr3	179593166	179593166	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agagctcttttgatccagttCtagatgaggatgattttctc	9	7	3	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr3:179593166C>G	ENST00000467460.1	-	6	935	c.605G>C	c.(604-606)aGa>aCa	p.R202T	PEX5L_ENST00000476138.1_Missense_Mutation_p.R159T|PEX5L_ENST00000472994.1_Missense_Mutation_p.R143T|PEX5L_ENST00000465751.1_Missense_Mutation_p.R178T|PEX5L_ENST00000485199.1_Missense_Mutation_p.R167T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.R94T|PEX5L_ENST00000392649.3_Missense_Mutation_p.R94T|PEX5L_ENST00000468741.1_Missense_Mutation_p.R10T|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Missense_Mutation_p.R200T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	202					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGATCCAGTTCTAGATGAGGA	0.378																																																	0													201	179	186					3																	179593166		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.605G>C	3.37:g.179593166C>G	ENSP00000419975:p.Arg202Thr		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R202T	ENST00000467460.1	37	c.605	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973518	0.53720	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.88431	-2.37;-2.38;-2.34;-2.35;-2.34;-2.34;-2.34;-2.35;-2.35	5.88	5.88	0.94601	.	0.202042	0.52532	D	0.000063	T	0.82130	0.4970	N	0.22421	0.69	0.54753	D	0.999986	P;B;B;P;P;P	0.38370	0.495;0.276;0.118;0.628;0.628;0.495	B;B;B;B;B;B	0.36922	0.119;0.049;0.049;0.184;0.236;0.119	T	0.82920	-0.0218	10	0.51188	T	0.08	-9.9263	13.4402	0.61108	0.0:0.9287:0.0:0.0713	.	143;178;94;200;167;202	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	T	202;200;167;200;94;10;159;90;143;94;178;10;10;191	ENSP00000419975:R202T;ENSP00000263962:R200T;ENSP00000418440:R167T;ENSP00000376420:R94T;ENSP00000418665:R10T;ENSP00000420555:R159T;ENSP00000418054:R143T;ENSP00000417270:R94T;ENSP00000419348:R178T	ENSP00000263962:R200T	R	-	2	0	PEX5L	181075860	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.768000	0.55295	2.788000	0.95919	0.650000	0.86243	AGA	PEX5L	-	NULL		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179593166	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179593166	C	G	179593166	3	3	38	1	0	0	0	0	1	0	0	0	11773	913	32	1	1315	1	PEX5L	3	179593166	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	657075	179593166	18429264	93	5297										
KIAA1530	57654	genome.wustl.edu	37	chr4	1377703	1377703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggctgataccgcccgcgctCgcattgggagaaaagtcttc	12	12	1	2	rs372587885		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:1377703C>T	ENST00000389851.4	+	13	2458	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C	UVSSA_ENST00000511216.1_Missense_Mutation_p.R671C|UVSSA_ENST00000507531.1_Missense_Mutation_p.R671C|UVSSA_ENST00000511563.1_Missense_Mutation_p.R222C|UVSSA_ENST00000512728.1_Missense_Mutation_p.R222C	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	671					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CGCCCGCGCTCGCATTGGGAG	0.637																																																	0								C	CYS/ARG	2,4402	4.2+/-10.8	0,2,2200	69	62	64		2011	2.9	0.2	4		64	0,8600		0,0,4300	no	missense	KIAA1530	NM_020894.2	180	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	benign	671/710	1377703	2,13002	2202	4300	6502	SO:0001583	missense	57654			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.2011C>T	4.37:g.1377703C>T	ENSP00000374501:p.Arg671Cys		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.R671C	ENST00000389851.4	37	c.2011	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358757	0.24598	4.54E-4	0.0	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.60040	0.59;0.59;0.59;0.22;0.22	4.98	2.92	0.33932	.	0.054303	0.64402	N	0.000001	T	0.47002	0.1422	L	0.56199	1.76	0.80722	D	1	B	0.32128	0.357	B	0.20577	0.03	T	0.53521	-0.8427	10	0.87932	D	0	.	9.8379	0.40980	0.1797:0.7437:0.0:0.0765	.	671	Q2YD98	K1530_HUMAN	C	671;671;671;222;222	ENSP00000425130:R671C;ENSP00000374501:R671C;ENSP00000421741:R671C;ENSP00000423340:R222C;ENSP00000427701:R222C	ENSP00000374501:R671C	R	+	1	0	KIAA1530	1367703	0.970000	0.33590	0.203000	0.23512	0.320000	0.28249	2.288000	0.43514	1.229000	0.43630	0.499000	0.49734	CGC	UVSSA	-	NULL		0.637	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	C	NM_020894		1377703	1	no_errors	ENST00000389851	ensembl	human	known	70_37	missense	SNP	0.778	T	T	1377703	C	T	1377703	3	4	38	1	0	0	0	0	1	0	0	0	8261	884	31	1	2057	1	KIAA1530	4	1377703	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		1377703	189776573	94	5298										
STK32B	55351	genome.wustl.edu	37	chr4	5500722	5500722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctcttggacaccgacagccGagggggaggccaggcccaaa	15	13	1	0	rs367898855		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:5500722G>A	ENST00000282908.5	+	12	1579	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	STK32B_ENST00000510398.1_Missense_Mutation_p.R339Q|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R309Q	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACCGACAGCCGAGGGGGAGGC	0.627																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	133	104	114		1157	3.2	0.1	4		114	0,8600		0,0,4300	no	missense	STK32B	NM_018401.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	386/415	5500722	1,13005	2203	4300	6503	SO:0001583	missense	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1157G>A	4.37:g.5500722G>A	ENSP00000282908:p.Arg386Gln			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.R386Q	ENST00000282908.5	37	c.1157	CCDS3380.1	4	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.575936	0.03882	2.27E-4	0.0	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.67523	-0.19;0.13;-0.27	4.94	3.23	0.37069	.	0.224264	0.21256	U	0.077544	T	0.49525	0.1562	L	0.44542	1.39	0.09310	N	1	B	0.30193	0.272	B	0.18871	0.023	T	0.26677	-1.0096	10	0.13853	T	0.58	.	7.7799	0.29058	0.1952:0.0:0.8048:0.0	.	386	Q9NY57	ST32B_HUMAN	Q	386;309;339	ENSP00000282908:R386Q;ENSP00000423209:R309Q;ENSP00000420984:R339Q	ENSP00000282908:R386Q	R	+	2	0	STK32B	5551623	0.025000	0.19082	0.089000	0.20774	0.001000	0.01503	1.420000	0.34804	0.513000	0.28278	-0.254000	0.11334	CGA	STK32B	-	NULL		0.627	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	G	NM_018401		5500722	1	no_errors	ENST00000282908	ensembl	human	known	70_37	missense	SNP	0.033	A	A	5500722	G	A	5500722	3	1	38	1	0	0	0	0	1	0	0	0	15328	1058	37	1	1203	1	STK32B	4	5500722	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4123019	5500722	185653554	95	5299										
CRMP1	1400	genome.wustl.edu	37	chr4	5830336	5830336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aagacgatcttgccctggctGatgaccactagtggggagcc	13	11	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:5830336G>A	ENST00000397890.2	-	12	1555	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	CRMP1_ENST00000512574.1_Silent_p.I445I|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.I561I|EVC_ENST00000382674.2_3'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	447					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGCCCTGGCTGATGACCACTA	0.567																																																	0													147	99	116					4																	5830336		2203	4300	6503	SO:0001819	synonymous_variant	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1341C>T	4.37:g.5830336G>A			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.I561	ENST00000397890.2	37	c.1683	CCDS43207.1	4																																																																																			CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.567	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	G	NM_001313		5830336	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5830336	G	A	5830336	2	1	38	1	0	0	0	0	0	0	0	1	3895	1280	45	1		1	CRMP1	4	5830336	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	329614	5830336	185323940	96	5300										
CPEB2	132864	genome.wustl.edu	37	chr4	15004504	15004504	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcccccttctccgtccccctCggcggcggcgcgggcagccc	12	22	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:15004504C>T	ENST00000507071.1	+	0	0				CPEB2_ENST00000345451.3_5'Flank|CPEB2_ENST00000541112.1_Silent_p.L69L|CPEB2_ENST00000382395.3_5'Flank|CPEB2_ENST00000538197.1_Silent_p.L69L|CPEB2_ENST00000259997.5_5'Flank|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Silent_p.L69L|CPEB2_ENST00000382401.3_5'Flank			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CCGTCCCCCTcggcggcggcg	0.711																																																	0																																										SO:0001631	upstream_gene_variant	132864			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669		4.37:g.15004504C>T	Exception_encountered		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L69	ENST00000507071.1	37	c.207		4																																																																																			CPEB2	-	NULL		0.711	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	C	XM_059607		15004504	1	no_errors	ENST00000538197	ensembl	human	known	70_37	silent	SNP	0.900	T	T	15004504	C	T	15004504	1	4	38	0	1	0	0	0	0	0	0	0	3806	871	31	1		1	CPEB2	4	15004504	5'Flank	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	9174168	15004504	176149772	97	5301										
SLC34A2	10568	genome.wustl.edu	37	chr4	25677909	25677909	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttctacctgatcatcttcttCttcctgatcccgctgacggt	6	14	5	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:25677909C>A	ENST00000382051.3	+	13	1661	c.1611C>A	c.(1609-1611)ttC>ttA	p.F537L	SLC34A2_ENST00000503434.1_Missense_Mutation_p.F536L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.F536L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	537					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.F537F(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCATCTTCTTCTTCCTGATCC	0.602			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	1	Substitution - coding silent(1)	lung(1)											179	164	169					4																	25677909		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1611C>A	4.37:g.25677909C>A	ENSP00000371483:p.Phe537Leu		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.F537L	ENST00000382051.3	37	c.1611	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584293	0.86748	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.43688	0.94;1.0;0.94	5.18	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74061	-0.3786	10	0.54805	T	0.06	-41.3295	14.623	0.68599	0.0:0.9258:0.0:0.0742	.	536;537	O95436-2;O95436	.;NPT2B_HUMAN	L	536;537;536	ENSP00000425501:F536L;ENSP00000371483:F537L;ENSP00000423021:F536L	ENSP00000371483:F537L	F	+	3	2	SLC34A2	25287007	0.993000	0.37304	0.879000	0.34478	0.888000	0.51559	2.679000	0.46909	2.584000	0.87258	0.561000	0.74099	TTC	SLC34A2	-	tigrfam_Na/Pi_transpt		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	C	NM_006424		25677909	1	no_errors	ENST00000382051	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25677909	C	A	25677909	3	1	38	1	0	0	0	0	1	0	0	0	14598	912	32	3	1657	3	SLC34A2	4	25677909	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	10673405	25677909	165476367	98	5302										
GABRB1	2560	genome.wustl.edu	37	chr4	47405722	47405722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgcatctgcagccagagtcGcactaggtaatacattctca	8	11	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:47405722G>A	ENST00000295454.3	+	7	1121	c.829G>A	c.(829-831)Gca>Aca	p.A277T	GABRB1_ENST00000538619.1_Missense_Mutation_p.A207T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	277					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCCAGAGTCGCACTAGGTAA	0.398																																																	0													99	95	97					4																	47405722		2203	4300	6503	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.829G>A	4.37:g.47405722G>A	ENSP00000295454:p.Ala277Thr		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A277T	ENST00000295454.3	37	c.829	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.576386	0.96565	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.84516	-1.86;-1.86	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90212	0.6940	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.923;0.997	D	0.90645	0.4578	10	0.87932	D	0	-16.2007	19.4279	0.94751	0.0:0.0:1.0:0.0	.	207;277	F5GXV5;P18505	.;GBRB1_HUMAN	T	277;207	ENSP00000295454:A277T;ENSP00000440330:A207T	ENSP00000295454:A277T	A	+	1	0	GABRB1	47100479	1.000000	0.71417	0.979000	0.43373	0.969000	0.65631	9.657000	0.98554	2.824000	0.97209	0.655000	0.94253	GCA	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.398	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	G			47405722	1	no_errors	ENST00000295454	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47405722	G	A	47405722	3	1	38	1	0	0	0	0	1	0	0	0	6184	1087	38	2	855	2	GABRB1	4	47405722	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	21727813	47405722	143748554	99	5303										
TMEM165	55858	genome.wustl.edu	37	chr4	56291621	56291622	+	3'UTR	DEL	AA	AA	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccctgattctggtttttaacAagctgtttgttcatctatat					rs35154686	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:56291621_56291622delAA	ENST00000381334.5	+	0	1210_1211				TMEM165_ENST00000542052.1_3'UTR|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_3'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165						cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGTTTTTAACAAGCTGTTTGTT	0.312														1780	0.355431	0.1604	0.4236	5008	,	,		18473	0.5714		0.2982	False		,,,				2504	0.407																0										828,3438		86,656,1391						-1.2	0.1		dbSNP_126	178	2465,5783		372,1721,2031	no	utr-3	TMEM165	NM_018475.3		458,2377,3422	A1A1,A1R,RR		29.886,19.4093,26.3145				3293,9221				SO:0001624	3_prime_UTR_variant	55858			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.*3AA>-	4.37:g.56291621_56291622delAA			A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	RNA	DEL	-	NULL	ENST00000381334.5	37	NULL	CCDS3499.1	4																																																																																			TMEM165	-	-		0.312	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	HGNC	protein_coding	OTTHUMT00000250646.4	AA	NM_018475		56291622	1	no_errors	ENST00000508561	ensembl	human	known	70_37	rna	DEL	0.010:0.001	-	-	56291622	AA	-	56291621	6	5	38	0	1	1	0	1	0	0	0	0	16110	145	5	0		0	TMEM165	4	56291621	3'UTR	DEL	AA	TCGA-C5-A3HE-01A-21D-A22X-09	8885899	56291621	134862655	100	5304										
UBA6	55236	genome.wustl.edu	37	chr4	68511735	68511735	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggcatcatatctatctcctCtgaaaaaaataacatatacc	3	10	4	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:68511735C>G	ENST00000322244.5	-	16	1376		c.e16-1			NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCTATCTCCTCTGAAAAAAAT	0.279																																																	0													55	59	58					4																	68511735		2201	4298	6499	SO:0001630	splice_region_variant	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1317-1G>C	4.37:g.68511735C>G			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Splice_Site	SNP	-	e16-1	ENST00000322244.5	37	c.1317-1	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423248	0.43020	.	.	ENSG00000033178	ENST00000322244	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0224	0.92920	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBA6	68194330	1.000000	0.71417	0.976000	0.42696	0.258000	0.26162	5.826000	0.69293	2.468000	0.83385	0.467000	0.42956	.	UBA6	-	-		0.279	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	C	NM_018227	Intron	68511735	-1	no_errors	ENST00000322244	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	68511735	C	G	68511735	5	3	38	1	0	0	0	0	0	0	1	0	16863	927	32	1	1914	1	UBA6	4	68511735	Splice_Site	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	12220114	68511735	122642541	101	5305										
PPEF2	5470	genome.wustl.edu	37	chr4	76794424	76794424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cgaatagtgttggccttgcaGccctcttgagccatgggatc	12	11	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:76794424G>A	ENST00000286719.7	-	12	1718	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	454	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGCCTTGCAGCCCTCTTGAG	0.448																																					NSCLC(105;1359 1603 15961 44567 47947)												0													125	119	121					4																	76794424		2203	4300	6503	SO:0001819	synonymous_variant	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1362C>T	4.37:g.76794424G>A			O14831	Silent	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase	p.G454	ENST00000286719.7	37	c.1362	CCDS34013.1	4																																																																																			PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.448	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	G	NM_006239		76794424	-1	no_errors	ENST00000286719	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76794424	G	A	76794424	2	1	38	1	0	0	0	0	0	0	0	1	12332	958	34	4		4	PPEF2	4	76794424	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	8282689	76794424	114359852	102	5306										
HELQ	113510	genome.wustl.edu	37	chr4	84337943	84337943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taaatgatcaattgtccttaCgagcacttcaggatttgcat	7	8	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:84337943C>T	ENST00000295488.3	-	17	3301	c.3139G>A	c.(3139-3141)Gta>Ata	p.V1047I	HELQ_ENST00000510985.1_Missense_Mutation_p.V980I	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1047					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATTGTCCTTACGAGCACTTCA	0.363								Other identified genes with known or suspected DNA repair function																																									0													194	184	188					4																	84337943		2203	4300	6503	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.3139G>A	4.37:g.84337943C>T	ENSP00000295488:p.Val1047Ile		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1047I	ENST00000295488.3	37	c.3139	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	2.266	-0.368070	0.05069	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.66099	0.16;-0.19	5.75	0.772	0.18510	.	0.426015	0.25795	N	0.028251	T	0.46328	0.1387	L	0.38838	1.175	0.41031	D	0.985153	B;B	0.13594	0.007;0.008	B;B	0.08055	0.003;0.003	T	0.24657	-1.0154	10	0.33141	T	0.24	-6.6562	8.7867	0.34825	0.0:0.5687:0.0:0.4313	.	980;1047	E3W980;Q8TDG4	.;HELQ_HUMAN	I	1047;980	ENSP00000295488:V1047I;ENSP00000424539:V980I	ENSP00000295488:V1047I	V	-	1	0	HELQ	84556967	0.343000	0.24818	0.042000	0.18584	0.153000	0.21895	0.954000	0.29175	0.138000	0.18790	-1.076000	0.02234	GTA	HELQ	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx		0.363	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84337943	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	missense	SNP	0.824	T	T	84337943	C	T	84337943	3	4	38	1	0	0	0	0	1	0	0	0	7067	536	19	2	174	2	HELQ	4	84337943	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	7543519	84337943	106816333	103	5307										
DSPP	1834	genome.wustl.edu	37	chr4	88537522	88537522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gacagcaatgaaagcagcgaCagcagtgacagcagcgatag	13	9	0	2	rs111884410		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:88537522C>T	ENST00000282478.7	+	4	3741	c.3708C>T	c.(3706-3708)gaC>gaT	p.D1236D	DSPP_ENST00000399271.1_Silent_p.D1236D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1236	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		aaagcagcgacagcagtgaca	0.537																																																	0													73	88	82					4																	88537522		1653	2956	4609	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3708C>T	4.37:g.88537522C>T			A8MUI0|O95815	Silent	SNP	NULL	p.D1236	ENST00000282478.7	37	c.3708	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	C	NM_014208		88537522	1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.991	T	T	88537522	C	T	88537522	2	4	38	1	0	0	0	0	0	0	0	1	4792	477	17	4		4	DSPP	4	88537522	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4199579	88537522	102616754	104	5308										
EMCN	51705	genome.wustl.edu	37	chr4	101401162	101401164	+	In_Frame_Del	DEL	AAC	AAC	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atagatggttttgttgtagtAacaacaagtgaattattagc					rs199955415|rs367883693|rs80331904|rs201510590	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:101401162_101401164delAAC	ENST00000296420.4	-	2	275_277	c.97_99delGTT	c.(97-99)gttdel	p.V33del	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_In_Frame_Del_p.V33del|EMCN_ENST00000305864.3_In_Frame_Del_p.V33del	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	33						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTGTTGTAGTAACAACAAGTGAA	0.31														1741	0.347644	0.2458	0.4092	5008	,	,		16968	0.7202		0.0944	False		,,,				2504	0.318																0									,	958,3302		118,722,1290					,	-3.3	0		dbSNP_54	133	803,7437		45,713,3362	no	coding,coding	EMCN	NM_016242.3,NM_001159694.1	,	163,1435,4652	A1A1,A1R,RR		9.7451,22.4883,14.088	,	,		1761,10739				SO:0001651	inframe_deletion	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.97_99delGTT	4.37:g.101401165_101401167delAAC	ENSP00000296420:p.Val33del		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	In_Frame_Del	DEL	pfam_Endomucin	p.V33in_frame_del	ENST00000296420.4	37	c.99_97	CCDS3655.1	4																																																																																			EMCN	-	pfam_Endomucin		0.31	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	HGNC	protein_coding	OTTHUMT00000253699.2	AAC	NM_016242		101401164	-1	no_errors	ENST00000296420	ensembl	human	known	70_37	in_frame_del	DEL	0.000:0.000:0.000	-	-	101401164	AAC	-	101401162	7	5	38	1	0	1	0	1	0	0	0	0	5098	349	13	0	726	0	EMCN	4	101401162	In_Frame_Del	DEL	AAC	TCGA-C5-A3HE-01A-21D-A22X-09	12863640	101401162	89753114	105	5309										
EGF	1950	genome.wustl.edu	37	chr4	110897270	110897270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agctctgatctaatctggccCagtggaataacgattgactt	9	9	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:110897270C>T	ENST00000265171.5	+	13	2377	c.1932C>T	c.(1930-1932)ccC>ccT	p.P644P	EGF_ENST00000509793.1_Silent_p.P602P|EGF_ENST00000503392.1_Silent_p.P644P	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	644					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TAATCTGGCCCAGTGGAATAA	0.458																																																	0													165	161	163					4																	110897270		2203	4300	6503	SO:0001819	synonymous_variant	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1932C>T	4.37:g.110897270C>T			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.P644	ENST00000265171.5	37	c.1932	CCDS3689.1	4																																																																																			EGF	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Pro-epidermal_GF,pfscan_LDLR_classB_rpt		0.458	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	C			110897270	1	no_errors	ENST00000265171	ensembl	human	known	70_37	silent	SNP	1.000	T	T	110897270	C	T	110897270	2	4	38	1	0	0	0	0	0	0	0	1	4972	581	21	4		4	EGF	4	110897270	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	9496108	110897270	80257006	106	5310										
DCHS2	54798	genome.wustl.edu	37	chr4	155287390	155287390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gagtcaatggtaaaaagggaCgacacgtttcctggaataag	12	6	1	0	rs78251264	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													C|||	2	0.000399361	0	0	5008	,	,		20691	0		0.001	False		,,,				2504	0.001																0								C	,	2,4404	4.2+/-10.8	0,2,2201	149	132	138		2448,666	-11.4	0	4	dbSNP_131	138	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	,	816/1370,222/2917	155287390	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.666G>A	4.37:g.155287390C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S222	ENST00000357232.4	37	c.666	CCDS3785.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,pfscan_Cadherin		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155287390	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.000	T	T	155287390	C	T	155287390	2	4	38	1	0	0	0	0	0	0	0	1	4293	523	19	2		2	DCHS2	4	155287390	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	44390120	155287390	35866886	107	5311										
NPY2R	4887	genome.wustl.edu	37	chr4	156135804	156135804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tctgggcattatatcattttCctacactcgcatttggagta	7	9	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr4:156135804C>T	ENST00000329476.3	+	2	1202	c.713C>T	c.(712-714)tCc>tTc	p.S238F	NPY2R_ENST00000506608.1_Missense_Mutation_p.S238F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	238					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ATATCATTTTCCTACACTCGC	0.443																																																	0													96	97	97					4																	156135804		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.713C>T	4.37:g.156135804C>T	ENSP00000332591:p.Ser238Phe		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.S238F	ENST00000329476.3	37	c.713	CCDS3791.1	4	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684370	0.47991	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.42513	0.97;0.97	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.050013	0.85682	D	0.000000	T	0.40423	0.1116	N	0.12422	0.21	0.46376	D	0.999014	P	0.39071	0.658	P	0.47891	0.56	T	0.43845	-0.9366	10	0.72032	D	0.01	.	18.9139	0.92496	0.0:1.0:0.0:0.0	.	238	P49146	NPY2R_HUMAN	F	238	ENSP00000332591:S238F;ENSP00000426366:S238F	ENSP00000332591:S238F	S	+	2	0	NPY2R	156355254	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	6.079000	0.71291	2.709000	0.92574	0.643000	0.83706	TCC	NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn		0.443	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	C	NM_000910		156135804	1	no_errors	ENST00000329476	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156135804	C	T	156135804	3	4	38	1	0	0	0	0	1	0	0	0	10633	855	30	1	715	1	NPY2R	4	156135804	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	848414	156135804	35018472	108	5312										
MAP1B	4131	genome.wustl.edu	37	chr5	71411577	71411577	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgcaacttggaccaagaactCaaactttttgtatctcgaca	6	10	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:71411577C>G	ENST00000296755.7	+	2	535	c.237C>G	c.(235-237)ctC>ctG	p.L79L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	79					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAGAACTCAAACTTTTTG	0.463																																					Melanoma(17;367 822 11631 31730 47712)												0													151	137	141					5																	71411577		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.237C>G	5.37:g.71411577C>G			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.L79	ENST00000296755.7	37	c.237	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71411577	1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	1.000	G	G	71411577	C	G	71411577	2	3	38	1	0	0	0	0	0	0	0	1	9251	813	29	1		1	MAP1B	5	71411577	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		71411577	109503683	109	5313										
FCHO2	115548	genome.wustl.edu	37	chr5	72350364	72350364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgttttaggtacagatgaatCggaatttgtctagtaagttt	10	3	1	2	rs369958358		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:72350364C>T	ENST00000430046.2	+	15	1314	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	FCHO2_ENST00000512348.1_Missense_Mutation_p.R367W|FCHO2_ENST00000341845.6_Intron	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	400					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		ACAGATGAATCGGAATTTGTC	0.254																																																	0													91	78	82					5																	72350364		1363	3107	4470	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1198C>T	5.37:g.72350364C>T	ENSP00000393776:p.Arg400Trp		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH	p.R400W	ENST00000430046.2	37	c.1198	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339398	0.41398	.	.	ENSG00000157107	ENST00000430046;ENST00000512348	T;T	0.19532	2.14;2.14	5.44	4.52	0.55395	.	.	.	.	.	T	0.23886	0.0578	M	0.74647	2.275	0.80722	D	1	D;P	0.59357	0.985;0.916	B;B	0.36766	0.232;0.19	T	0.26849	-1.0091	9	0.72032	D	0.01	.	14.5161	0.67821	0.1455:0.8544:0.0:0.0	.	367;400	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	W	400;367	ENSP00000393776:R400W;ENSP00000427296:R367W	ENSP00000393776:R400W	R	+	1	2	FCHO2	72386120	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.069000	0.30641	2.712000	0.92718	0.650000	0.86243	CGG	FCHO2	-	NULL		0.254	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	C	XM_291142		72350364	1	no_errors	ENST00000430046	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72350364	C	T	72350364	3	4	38	1	0	0	0	0	1	0	0	0	5806	875	31	1	1256	1	FCHO2	5	72350364	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	938787	72350364	108564896	110	5314										
NSA2	10412	genome.wustl.edu	37	chr5	74069849	74069849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgaagtaaatgtgagcgaaTtgggccttgtgacacaagga	13	5	0	3	rs374489548		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:74069849T>C	ENST00000296802.5	+	5	1048	c.679T>C	c.(679-681)Ttg>Ctg	p.L227L		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	227					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						TGTGAGCGAATTGGGCCTTGT	0.398																																																	0								T		0,4406		0,0,2203	106	101	103		679	-8.6	0.5	5		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NSA2	NM_014886.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		227/261	74069849	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10412			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.679T>C	5.37:g.74069849T>C				Silent	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2	p.L227	ENST00000296802.5	37	c.679	CCDS4025.1	5																																																																																			NSA2	-	pfam_Ribosomal_S8e/biogenesis_NSA2		0.398	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSA2	HGNC	protein_coding	OTTHUMT00000254041.3	T	NM_014886		74069849	1	no_errors	ENST00000296802	ensembl	human	known	70_37	silent	SNP	0.965	C	C	74069849	T	C	74069849	2	2	38	1	0	0	0	0	0	0	0	1	10692	1490	52	5		5	NSA2	5	74069849	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	1719485	74069849	106845411	111	5315										
VCAN	1462	genome.wustl.edu	37	chr5	82837569	82837569	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	attagaagaaatggaagcttCtcccacagaacttattgctg	8	8	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:82837569C>T	ENST00000265077.3	+	8	9312	c.8747C>T	c.(8746-8748)tCt>tTt	p.S2916F	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S1929F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2916	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGGAAGCTTCTCCCACAGAA	0.403																																																	0													73	78	76					5																	82837569		2203	4299	6502	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8747C>T	5.37:g.82837569C>T	ENSP00000265077:p.Ser2916Phe		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S2916F	ENST00000265077.3	37	c.8747	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141742	0.37825	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.18960	2.18;2.18	6.03	4.03	0.46877	.	0.518704	0.19425	N	0.114599	T	0.20047	0.0482	L	0.59436	1.845	0.20926	N	0.999828	B;B	0.24368	0.102;0.013	B;B	0.23018	0.043;0.014	T	0.19877	-1.0292	10	0.46703	T	0.11	.	6.7025	0.23232	0.1367:0.6898:0.0:0.1735	.	1929;2916	P13611-2;P13611	.;CSPG2_HUMAN	F	2916;1929	ENSP00000265077:S2916F;ENSP00000340062:S1929F	ENSP00000265077:S2916F	S	+	2	0	VCAN	82873325	0.835000	0.29415	0.236000	0.24074	0.243000	0.25628	1.433000	0.34947	0.690000	0.31570	0.655000	0.94253	TCT	VCAN	-	NULL		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82837569	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.162	T	T	82837569	C	T	82837569	3	4	38	1	0	0	0	0	1	0	0	0	17169	913	32	1	8773	1	VCAN	5	82837569	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	8767720	82837569	98077691	112	5316										
FAM81B	153643	genome.wustl.edu	37	chr5	94728539	94728539	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctctccaactgcgactgcaGaggaacagccagttgaacct	9	14	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:94728539G>C	ENST00000283357.5	+	2	212	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	56						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TGCGACTGCAGAGGAACAGCC	0.413																																																	0													45	45	45					5																	94728539		1860	4094	5954	SO:0001583	missense	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.166G>C	5.37:g.94728539G>C	ENSP00000283357:p.Glu56Gln			Missense_Mutation	SNP	NULL	p.E56Q	ENST00000283357.5	37	c.166	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	4.846	0.157305	0.09236	.	.	ENSG00000153347	ENST00000283357	T	0.26223	1.75	5.6	-2.96	0.05547	.	1.135760	0.06444	N	0.726574	T	0.23210	0.0561	L	0.56769	1.78	0.09310	N	1	B	0.17268	0.021	B	0.12837	0.008	T	0.38585	-0.9654	10	0.48119	T	0.1	-0.1902	6.2937	0.21075	0.3083:0.3377:0.354:0.0	.	56	Q96LP2	FA81B_HUMAN	Q	56	ENSP00000283357:E56Q	ENSP00000283357:E56Q	E	+	1	0	FAM81B	94754295	0.015000	0.18098	0.000000	0.03702	0.005000	0.04900	0.514000	0.22786	-0.469000	0.06911	-1.092000	0.02172	GAG	FAM81B	-	NULL		0.413	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	G	NM_152548		94728539	1	no_errors	ENST00000283357	ensembl	human	known	70_37	missense	SNP	0.000	C	C	94728539	G	C	94728539	3	2	38	1	0	0	0	0	1	0	0	0	5647	943	33	1	172	1	FAM81B	5	94728539	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	11890970	94728539	86186721	113	5317										
MAN2A1	4124	genome.wustl.edu	37	chr5	109110547	109110547	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agctttttcgtaccaaagttCtcctggctccactaggagat	8	11	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:109110547C>T	ENST00000261483.4	+	8	2307	c.1255C>T	c.(1255-1257)Ctc>Ttc	p.L419F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	419					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TACCAAAGTTCTCCTGGCTCC	0.363																																																	0													74	75	75					5																	109110547		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1255C>T	5.37:g.109110547C>T	ENSP00000261483:p.Leu419Phe		Q16767	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L419F	ENST00000261483.4	37	c.1255	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736524	0.69304	.	.	ENSG00000112893	ENST00000261483	T	0.29397	1.57	5.95	0.797	0.18654	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.320185	0.34338	N	0.004051	T	0.64450	0.2599	H	0.94582	3.555	0.53005	D	0.999968	D	0.55605	0.972	D	0.72075	0.976	T	0.74618	-0.3605	10	0.72032	D	0.01	-3.0672	15.4961	0.75653	0.0:0.3082:0.6297:0.0621	.	419	Q16706	MA2A1_HUMAN	F	419	ENSP00000261483:L419F	ENSP00000261483:L419F	L	+	1	0	MAN2A1	109138446	0.361000	0.24972	0.243000	0.24186	0.844000	0.47949	0.632000	0.24583	-0.153000	0.11137	0.563000	0.77884	CTC	MAN2A1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl		0.363	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	C			109110547	1	no_errors	ENST00000261483	ensembl	human	known	70_37	missense	SNP	0.885	T	T	109110547	C	T	109110547	3	4	38	1	0	0	0	0	1	0	0	0	9237	913	32	1	1285	1	MAN2A1	5	109110547	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	14382008	109110547	71804713	114	5318										
REEP5	7905	genome.wustl.edu	37	chr5	112257809	112257809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gttcacgccggttttggcctCgagcttggccagaaggtcag	14	11	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:112257809C>T	ENST00000379638.4	-	1	427	c.79G>A	c.(79-81)Gag>Aag	p.E27K	REEP5_ENST00000474542.2_5'Flank|REEP5_ENST00000545426.1_Missense_Mutation_p.E27K|REEP5_ENST00000513339.1_Missense_Mutation_p.E27K|REEP5_ENST00000504247.1_Missense_Mutation_p.E27K	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	27						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E27K(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GTTTTGGCCTCGAGCTTGGCC	0.677																																																	1	Substitution - Missense(1)	lung(1)											72	66	68					5																	112257809		2202	4300	6502	SO:0001583	missense	7905			BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"Receptor accessory proteins"	30077	protein-coding gene	gene with protein product	"deleted in polyposis 1", "polyposis locus protein 1", "polyposis coli region hypothetical protein DP1"	125265	"chromosome 5 open reading frame 18"	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.79G>A	5.37:g.112257809C>T	ENSP00000368959:p.Glu27Lys		B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.E27K	ENST00000379638.4	37	c.79	CCDS4109.2	5	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135209	0.77662	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000504247	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.969;0.994	D	0.86830	0.2010	10	0.87932	D	0	-41.9862	16.3524	0.83220	0.0:1.0:0.0:0.0	.	27;27	B7Z510;Q00765	.;REEP5_HUMAN	K	27	ENSP00000368959:E27K;ENSP00000425901:E27K;ENSP00000442940:E27K;ENSP00000421881:E27K	ENSP00000368959:E27K	E	-	1	0	REEP5	112285708	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.323000	0.72891	1.932000	0.55993	0.655000	0.94253	GAG	REEP5	-	NULL		0.677	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP5	HGNC	protein_coding	OTTHUMT00000250739.2	C	NM_005669		112257809	-1	no_errors	ENST00000379638	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112257809	C	T	112257809	3	4	38	1	0	0	0	0	1	0	0	0	13238	893	31	1	510	1	REEP5	5	112257809	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3147262	112257809	68657451	115	5319										
TRIM36	55521	genome.wustl.edu	37	chr5	114462253	114462253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtgatgggttcttcaagctGaattcctccactgcccatta	8	11	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:114462253G>A	ENST00000282369.3	-	10	2255	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*	TRIM36_ENST00000514154.1_Nonsense_Mutation_p.Q557*|TRIM36_ENST00000513154.1_Nonsense_Mutation_p.Q700*	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	712	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTTCAAGCTGAATTCCTCCA	0.388																																																	0													108	100	102					5																	114462253		2202	4300	6502	SO:0001587	stop_gained	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.2134C>T	5.37:g.114462253G>A	ENSP00000282369:p.Gln712*		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Nonsense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q712*	ENST00000282369.3	37	c.2134	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.206943	0.98136	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	.	.	.	5.73	5.73	0.89815	.	0.237095	0.44097	D	0.000496	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	.	.	.	X	712;700;557	.	ENSP00000282369:Q712X	Q	-	1	0	TRIM36	114490152	1.000000	0.71417	0.777000	0.31699	0.990000	0.78478	7.348000	0.79366	2.854000	0.98071	0.655000	0.94253	CAG	TRIM36	-	pfscan_B30.2/SPRY		0.388	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	G	NM_018700		114462253	-1	no_errors	ENST00000282369	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	114462253	G	A	114462253	4	1	38	1	0	0	0	0	0	1	0	0	16541	1299	45	1	56	1	TRIM36	5	114462253	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2204444	114462253	66453007	116	5320										
CDC25C	995	genome.wustl.edu	37	chr5	137666710	137666710	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taggtttgcagaatcaccaaGaaatttgcccactggagttc	9	9	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:137666710G>C	ENST00000323760.6	-	2	438	c.160C>G	c.(160-162)Ctt>Gtt	p.L54V	CDC25C_ENST00000357274.3_Missense_Mutation_p.L54V|CDC25C_ENST00000348983.3_Missense_Mutation_p.L54V|CDC25C_ENST00000513970.1_Missense_Mutation_p.L54V|CDC25C_ENST00000356505.3_Missense_Mutation_p.L54V|CDC25C_ENST00000514555.1_Missense_Mutation_p.L54V|CDC25C_ENST00000415130.2_Missense_Mutation_p.L54V	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	54					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.L54V(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAATCACCAAGAAATTTGCCC	0.383																																																	1	Substitution - Missense(1)	lung(1)											94	97	96					5																	137666710		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.160C>G	5.37:g.137666710G>C	ENSP00000321656:p.Leu54Val		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.L54V	ENST00000323760.6	37	c.160	CCDS4202.1	5	.	.	.	.	.	.	.	.	.	.	G	3.997	-0.003391	0.07773	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.81;1.37;1.37;1.37;1.37;1.37;1.37	4.49	1.59	0.23543	.	0.564498	0.15632	N	0.252339	T	0.16981	0.0408	N	0.24115	0.695	0.09310	N	1	P;P;P;P;B;P	0.46142	0.873;0.873;0.799;0.787;0.288;0.682	B;B;B;B;B;B	0.36464	0.225;0.164;0.112;0.164;0.051;0.079	T	0.10543	-1.0625	10	0.35671	T	0.21	-0.2367	2.4681	0.04558	0.2779:0.0:0.4847:0.2375	.	71;54;71;54;54;54	G3V1P6;P30307-3;B4DX61;P30307-2;P30307-4;P30307	.;.;.;.;.;MPIP3_HUMAN	V	54;54;54;54;54;54;71;54;54;71	ENSP00000321656:L54V;ENSP00000348898:L54V;ENSP00000349821:L54V;ENSP00000345205:L54V;ENSP00000392631:L54V;ENSP00000424795:L54V;ENSP00000425470:L54V;ENSP00000427251:L54V;ENSP00000427105:L71V	ENSP00000321656:L54V	L	-	1	0	CDC25C	137694609	0.000000	0.05858	0.032000	0.17829	0.005000	0.04900	0.087000	0.14958	0.205000	0.20568	-0.122000	0.15005	CTT	CDC25C	-	NULL		0.383	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	G			137666710	-1	no_errors	ENST00000323760	ensembl	human	known	70_37	missense	SNP	0.028	C	C	137666710	G	C	137666710	3	2	38	1	0	0	0	0	1	0	0	0	3069	942	33	1	1313	1	CDC25C	5	137666710	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	23204457	137666710	43248550	117	5321										
NRG2	9542	genome.wustl.edu	37	chr5	139235358	139235358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctcttctggtacagctcctCggcttctgcagaggtagggt	12	12	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:139235358C>T	ENST00000361474.1	-	6	1419	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	NRG2_ENST00000394770.1_Silent_p.P418P|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289422.7_Missense_Mutation_p.E407K|NRG2_ENST00000545385.1_Missense_Mutation_p.E401K|NRG2_ENST00000289409.4_Missense_Mutation_p.E393K|NRG2_ENST00000358522.3_Missense_Mutation_p.E401K|NRG2_ENST00000541337.1_Missense_Mutation_p.E333K|NRG2_ENST00000340391.3_Missense_Mutation_p.E196K	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	399					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGCTCCTCGGCTTCTGCA	0.602																																																	0													113	104	107					5																	139235358		2203	4300	6503	SO:0001583	missense	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1195G>A	5.37:g.139235358C>T	ENSP00000354910:p.Glu399Lys			Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like	p.E401K	ENST00000361474.1	37	c.1201	CCDS4217.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.421707	0.96111	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;1.61;0.08	5.02	5.02	0.67125	Neuregulin 1-related, C-terminal (1);	0.065283	0.64402	D	0.000011	T	0.77471	0.4135	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.80360	-0.1415	10	0.62326	D	0.03	-30.8951	18.3286	0.90261	0.0:1.0:0.0:0.0	.	393;399;401;407	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	K	333;407;399;407;401;196;393;401	ENSP00000444235:E333K;ENSP00000289422:E407K;ENSP00000354910:E399K;ENSP00000438753:E401K;ENSP00000342660:E196K;ENSP00000289409:E393K;ENSP00000351323:E401K	ENSP00000289409:E393K	E	-	1	0	NRG2	139215542	1.000000	0.71417	0.980000	0.43619	0.765000	0.43378	7.729000	0.84864	2.342000	0.79632	0.462000	0.41574	GAG	NRG2	-	pfam_Neuregulin_1_C		0.602	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1	C	NM_013982		139235358	-1	no_errors	ENST00000545385	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139235358	C	T	139235358	3	4	38	1	0	0	0	0	1	0	0	0	10672	893	31	1	1377	1	NRG2	5	139235358	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1568648	139235358	41679902	118	5322										
PCDHB15	56121	genome.wustl.edu	37	chr5	140626529	140626529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs17844564	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:140626529C>T	ENST00000231173.3	+	1	1383	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.637													C|||	584	0.116613	0.1263	0.1787	5008	,	,		16065	0.0397		0.1551	False		,,,				2504	0.0992																0								C		557,3849		70,417,1716	78	83	82		1383	-1.1	0.7	5	dbSNP_123	82	1414,7174		126,1162,3006	no	coding-synonymous	PCDHB15	NM_018935.2		196,1579,4722	TT,TC,CC		16.4648,12.6419,15.1685		461/788	140626529	1971,11023	2203	4294	6497	SO:0001819	synonymous_variant	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1383C>T	5.37:g.140626529C>T			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R461	ENST00000231173.3	37	c.1383	CCDS4257.1	5																																																																																			PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.637	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	C	NM_018935		140626529	1	no_errors	ENST00000231173	ensembl	human	known	70_37	silent	SNP	0.002	T	T	140626529	C	T	140626529	2	4	38	1	0	0	0	0	0	0	0	1	11564	755	27	2		2	PCDHB15	5	140626529	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1391171	140626529	40288731	119	5323										
TCERG1	10915	genome.wustl.edu	37	chr5	145843128	145843128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tatcagcacccacaacacaaGatcagaccccaagttctgct	5	15	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:145843128G>T	ENST00000296702.5	+	5	945	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D303Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	303	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAACACAAGATCAGACCCC	0.408																																																	0													196	194	195					5																	145843128		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.907G>T	5.37:g.145843128G>T	ENSP00000296702:p.Asp303Tyr		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.D303Y	ENST00000296702.5	37	c.907	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728541	0.48833	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.29655	1.56;1.56	5.39	5.39	0.77823	.	0.218926	0.39407	N	0.001372	T	0.34513	0.0900	N	0.22421	0.69	0.39701	D	0.971186	P;P;P	0.50943	0.94;0.736;0.617	P;P;B	0.50708	0.543;0.648;0.446	T	0.19128	-1.0315	10	0.59425	D	0.04	-6.6899	19.1351	0.93424	0.0:0.0:1.0:0.0	.	303;303;303	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	Y	303	ENSP00000296702:D303Y;ENSP00000377943:D303Y	ENSP00000296702:D303Y	D	+	1	0	TCERG1	145823321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.506000	0.84524	0.563000	0.77884	GAT	TCERG1	-	NULL		0.408	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	G	NM_001040006		145843128	1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145843128	G	T	145843128	3	4	38	1	0	0	0	0	1	0	0	0	15715	942	33	3	925	3	TCERG1	5	145843128	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5216599	145843128	35072132	120	5324										
SH3TC2	79628	genome.wustl.edu	37	chr5	148386525	148386525	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tccttgggactctgcagccaTggtggacagagggacagggt	16	9	1	1	rs6871030	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:148386525T>G	ENST00000515425.1	-	16	3695	c.3594A>C	c.(3592-3594)ccA>ccC	p.P1198P	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Silent_p.P1191P|SH3TC2_ENST00000502274.1_Silent_p.P60P	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1198					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCAGCCATGGTGGACAGA	0.562													G|||	1920	0.383387	0.4902	0.3055	5008	,	,		19946	0.2222		0.4046	False		,,,				2504	0.4387																0								G		2477,1929		478,1521,204	122	121	122		3594	-2.6	0.6	5	dbSNP_116	122	3502,5098		681,2140,1479	no	coding-synonymous	SH3TC2	NM_024577.3		1159,3661,1683	GG,GT,TT		40.7209,43.7812,45.9711		1198/1289	148386525	5979,7027	2203	4300	6503	SO:0001819	synonymous_variant	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3594A>C	5.37:g.148386525T>G			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.P1198	ENST00000515425.1	37	c.3594	CCDS4293.1	5																																																																																			SH3TC2	-	smart_TPR_repeat		0.562	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	T	NM_024577		148386525	-1	no_errors	ENST00000515425	ensembl	human	known	70_37	silent	SNP	0.142	G	G	148386525	T	G	148386525	2	3	38	1	0	0	0	0	0	0	0	1	14292	1451	51	5		5	SH3TC2	5	148386525	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	2543397	148386525	32528735	121	5325										
TIGD6	81789	genome.wustl.edu	37	chr5	149374880	149374880	+	Frame_Shift_Del	DEL	T	T	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgcttgatgtccacctcttcTtgatcctcactgctgttgag					rs397756704|rs3832324|rs201139146	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:149374880delT	ENST00000296736.3	-	2	1806	c.1032delA	c.(1030-1032)caafs	p.Q344fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.Q344fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	344	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCACCTCTTCTTGATCCTCAC	0.502													TT|TT|T|deletion	2598	0.51877	0.3616	0.4813	5008	,	,		23962	0.5853		0.6074	False		,,,				2504	0.5982																0										1735,2529		362,1011,759	98	51	67			2.2	0	5	dbSNP_130	135	5379,2875		1759,1861,507	yes	frameshift	TIGD6	NM_030953.3		2121,2872,1266	A1A1,A1R,RR		34.8316,40.6895,43.1698			149374880	7114,5404	2168	4015	6183	SO:0001589	frameshift_variant	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1032delA	5.37:g.149374880delT	ENSP00000296736:p.Gln344fs		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E345fs	ENST00000296736.3	37	c.1032	CCDS4301.1	5																																																																																			TIGD6	-	pfam_DDE_SF_endonuclease_CENPB-like		0.502	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	T	NM_030953		149374880	-1	no_errors	ENST00000296736	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	149374880	T	-	149374880	7	5	38	1	0	1	0	1	0	0	0	0	15930	1606	56	0	537	0	TIGD6	5	149374880	Frame_Shift_Del	DEL	T	TCGA-C5-A3HE-01A-21D-A22X-09	988355	149374880	31540380	122	5326										
C5orf40	408263	genome.wustl.edu	37	chr5	156769931	156769931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cccccctctgtaaggcacccGcatcaggggcatcctggttg	11	16	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:156769931G>T	ENST00000312349.4	-	2	801	c.614C>A	c.(613-615)gCg>gAg	p.A205E	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	205						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TAAGGCACCCGCATCAGGGGC	0.607											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43	46	45					5																	156769931		2203	4300	6503	SO:0001583	missense	408263			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.614C>A	5.37:g.156769931G>T	ENSP00000310594:p.Ala205Glu	1781	A8K0Y6	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.A205E	ENST00000312349.4	37	c.614	CCDS4337.1	5	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014181	0.19277	.	.	ENSG00000172568	ENST00000312349	T	0.23950	1.88	5.08	-10.2	0.00374	.	1.276520	0.05731	N	0.599640	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.39820	-0.9595	10	0.54805	T	0.06	-0.3439	6.0271	0.19660	0.0875:0.226:0.4939:0.1926	.	205	Q8TBE3	FNDC9_HUMAN	E	205	ENSP00000310594:A205E	ENSP00000310594:A205E	A	-	2	0	FNDC9	156702509	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.649000	0.05384	-4.285000	0.00059	-0.424000	0.05967	GCG	FNDC9	-	NULL		0.607	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC9	HGNC	protein_coding	OTTHUMT00000252573.2	G	NM_001001343		156769931	-1	no_errors	ENST00000312349	ensembl	human	known	70_37	missense	SNP	0.000	T	T	156769931	G	T	156769931	3	4	38	1	0	0	0	0	1	0	0	0	2304	1087	38	2	64	2	C5orf40	5	156769931	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	7395051	156769931	24145329	123	5327										
TLX3	30012	genome.wustl.edu	37	chr5	170737337	170737337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gagggcggcgctcgccaagtCcctcaaaatgacggacgcgc	14	14	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:170737337C>T	ENST00000296921.5	+	2	687	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	202					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGCCAAGTCCCTCAAAATG	0.632			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)			Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	0													31	30	30					5																	170737337		2202	4300	6502	SO:0001583	missense	30012			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.605C>T	5.37:g.170737337C>T	ENSP00000296921:p.Ser202Phe		Q96AD3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S202F	ENST00000296921.5	37	c.605	CCDS34288.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366423	0.82463	.	.	ENSG00000164438	ENST00000296921	D	0.96396	-4.0	4.46	4.46	0.54185	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.104602	0.64402	D	0.000003	D	0.97346	0.9132	M	0.69248	2.105	0.58432	D	0.999998	P	0.52463	0.953	P	0.62649	0.905	D	0.97125	0.9814	10	0.39692	T	0.17	.	16.7192	0.85406	0.0:1.0:0.0:0.0	.	202	O43711	TLX3_HUMAN	F	202	ENSP00000296921:S202F	ENSP00000296921:S202F	S	+	2	0	TLX3	170669942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.856000	0.62932	2.027000	0.59764	0.505000	0.49811	TCC	TLX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.632	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TLX3	HGNC	protein_coding	OTTHUMT00000372076.3	C			170737337	1	no_errors	ENST00000296921	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170737337	C	T	170737337	3	4	38	1	0	0	0	0	1	0	0	0	15992	855	30	1	611	1	TLX3	5	170737337	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	13967406	170737337	10177923	124	5328										
DUSP1	1843	genome.wustl.edu	37	chr5	172196702	172196702	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	caattggctgagacgttgatCaaggcagtgatgcccaaggc	13	9	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:172196702C>G	ENST00000239223.3	-	3	851	c.609G>C	c.(607-609)ttG>ttC	p.L203F	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	203	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		AGACGTTGATCAAGGCAGTGA	0.552																																																	0													204	170	182					5																	172196702		2203	4300	6503	SO:0001583	missense	1843			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.609G>C	5.37:g.172196702C>G	ENSP00000239223:p.Leu203Phe		D3DQL9|Q2V508	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.L203F	ENST00000239223.3	37	c.609	CCDS4380.1	5	.	.	.	.	.	.	.	.	.	.	C	17.72	3.457954	0.63401	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.61742	0.08	5.32	4.4	0.53042	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.78858	-0.2038	10	0.87932	D	0	.	14.0732	0.64872	0.0:0.7228:0.2772:0.0	.	203;160	P28562;B4DNT2	DUS1_HUMAN;.	F	203;176;138	ENSP00000239223:L203F	ENSP00000239223:L203F	L	-	3	2	DUSP1	172129308	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	-0.027000	0.12371	2.498000	0.84270	0.561000	0.74099	TTG	DUSP1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP		0.552	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP1	HGNC	protein_coding	OTTHUMT00000252943.3	C	NM_004417		172196702	-1	no_errors	ENST00000239223	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172196702	C	G	172196702	3	3	38	1	0	0	0	0	1	0	0	0	4819	825	29	1	502	1	DUSP1	5	172196702	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1459365	172196702	8718558	125	5329										
FAM153B	202134	genome.wustl.edu	37	chr5	175520229	175520229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cggcaactacggcgactacgGgagctccacctatacagcac	10	15	0	0	rs200046108	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:175520229G>A	ENST00000253490.4	+	5	348	c.291G>A	c.(289-291)cgG>cgA	p.R97R	FAM153B_ENST00000510151.1_Silent_p.R20R|FAM153B_ENST00000512862.1_Silent_p.R20R|FAM153B_ENST00000515817.1_Silent_p.R20R			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	97										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	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)		GGCGACTACGGGAGCTCCACC	0.483													g|||	37	0.00738818	0.0015	0.0115	5008	,	,		19875	0		0.0249	False		,,,				2504	0.002																0								G		18,4138		2,14,2062	26	24	25		291	-1.6	0	5		25	222,6804		62,98,3353	no	coding-synonymous	FAM153B	NM_001079529.2		64,112,5415	AA,AG,GG		3.1597,0.4331,2.1463		97/388	175520229	240,10942	2078	3513	5591	SO:0001819	synonymous_variant	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.291G>A	5.37:g.175520229G>A			A8MTI1	Silent	SNP	prints_FAM153	p.R97	ENST00000253490.4	37	c.291		5																																																																																			FAM153B	-	prints_FAM153		0.483	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		G	NM_001079529		175520229	1	no_errors	ENST00000253490	ensembl	human	known	70_37	silent	SNP	0.000	A	A	175520229	G	A	175520229	2	1	38	1	0	0	0	0	0	0	0	1	5476	1219	43	4		4	FAM153B	5	175520229	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	3323527	175520229	5395031	126	5330										
PDLIM7	9260	genome.wustl.edu	37	chr5	176917897	176917897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttcttcaggtgctcctcatcCgggtcttgcactgagagggc	12	12	4	1	rs1132445	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:176917897C>T	ENST00000355841.2	-	7	612	c.546G>A	c.(544-546)ccG>ccA	p.P182P	PDLIM7_ENST00000355572.2_Silent_p.P182P|PDLIM7_ENST00000393551.1_Silent_p.P182P|PDLIM7_ENST00000359895.2_Silent_p.P148P|PDLIM7_ENST00000356618.4_Silent_p.P182P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	182					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCTCATCCGGGTCTTGCA	0.602													C|||	118	0.0235623	0.0061	0.0375	5008	,	,		14772	0.001		0.0646	False		,,,				2504	0.0184																0								C	,,	69,4337	62.9+/-100.1	0,69,2134	59	59	59		546,444,546	1.5	1	5	dbSNP_131	59	656,7944	167.3+/-219.0	29,598,3673	no	coding-synonymous,coding-synonymous,coding-synonymous	PDLIM7	NM_005451.3,NM_203352.1,NM_213636.1	,,	29,667,5807	TT,TC,CC		7.6279,1.566,5.5744	,,	182/458,148/424,182/223	176917897	725,12281	2203	4300	6503	SO:0001819	synonymous_variant	9260			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.546G>A	5.37:g.176917897C>T			Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P182	ENST00000355841.2	37	c.546	CCDS4422.1	5																																																																																			PDLIM7	-	NULL		0.602	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	C	NM_005451		176917897	-1	no_errors	ENST00000355841	ensembl	human	known	70_37	silent	SNP	0.998	T	T	176917897	C	T	176917897	2	4	38	1	0	0	0	0	0	0	0	1	11708	639	23	2		2	PDLIM7	5	176917897	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1397668	176917897	3997363	127	5331										
FAM153A	285596	genome.wustl.edu	37	chr5	177151329	177151329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctttggtcttttctgttgctTcttctgcaggtgcagaggaa	11	8	4	1	rs141664226	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr5:177151329T>G	ENST00000440605.3	-	19	1089	c.806A>C	c.(805-807)gAa>gCa	p.E269A	FAM153A_ENST00000513554.1_Missense_Mutation_p.E103A|FAM153A_ENST00000510276.1_Missense_Mutation_p.E269A|FAM153A_ENST00000393518.3_Missense_Mutation_p.E103A	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	269										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTGCTTCTTCTGCAGG	0.507													t|||	732	0.146166	0.2882	0.1225	5008	,	,		21510	0.0357		0.1133	False		,,,				2504	0.1186																0													3	4	4					5																	177151329		1504	2905	4409	SO:0001583	missense	285596			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"NY REN 7 antigen"					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.806A>C	5.37:g.177151329T>G	ENSP00000411506:p.Glu269Ala		A8K0F3|O94852	Missense_Mutation	SNP	prints_FAM153	p.E269A	ENST00000440605.3	37	c.806	CCDS34305.1	5	.	.	.	.	.	.	.	.	.	.	.	8.900	0.956196	0.18507	.	.	ENSG00000170074	ENST00000440977;ENST00000393518;ENST00000510276;ENST00000440605;ENST00000513554;ENST00000505531	.	.	.	0.893	-1.79	0.07932	.	.	.	.	.	T	0.23649	0.0572	N	0.14661	0.345	0.80722	P	0.0	P;P	0.37398	0.593;0.593	P;P	0.45577	0.486;0.486	T	0.30563	-0.9974	7	0.87932	D	0	.	2.2386	0.04014	0.0:0.2849:0.3131:0.4021	.	103;269	A8MWQ6;Q9UHL3	.;F153A_HUMAN	A	346;103;269;269;103;103	.	ENSP00000353887:E269A	E	-	2	0	FAM153A	177083935	0.738000	0.28186	0.000000	0.03702	0.015000	0.08874	-1.604000	0.02076	-0.946000	0.03677	-1.149000	0.01842	GAA	FAM153A	-	NULL		0.507	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	FAM153A	HGNC	protein_coding	OTTHUMT00000417242.1	T	NM_173663		177151329	-1	no_errors	ENST00000360669	ensembl	human	known	70_37	missense	SNP	0.000	G	G	177151329	T	G	177151329	3	3	38	1	0	0	0	0	1	0	0	0	5475	1783	62	5	134	5	FAM153A	5	177151329	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	233432	177151329	3763931	128	5332										
TUBB2A	7280	genome.wustl.edu	37	chr6	3154871	3154871	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttttccaccagctggtggacAgagagggtggcgttgtaggg	17	7	0	1	rs17849443	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:3154871A>C	ENST00000333628.3	-	4	626	c.564T>G	c.(562-564)tcT>tcG	p.S188S	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	188					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCTGGTGGACAGAGAGGGTGG	0.567													A|||	2006	0.400559	0.1823	0.4496	5008	,	,		18775	0.4226		0.6819	False		,,,				2504	0.3487																0								A		859,3547		124,611,1468	188	100	130		564	-10	0	6	dbSNP_123	130	5483,3115		1998,1487,814	no	coding-synonymous	TUBB2A	NM_001069.2		2122,2098,2282	CC,CA,AA		36.2294,19.4961,48.7696		188/446	3154871	6342,6662	2203	4299	6502	SO:0001819	synonymous_variant	7280			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.564T>G	6.37:g.3154871A>C			Q6FGZ8|Q8IWR2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.S188	ENST00000333628.3	37	c.564	CCDS4484.1	6																																																																																			TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin		0.567	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	A	NM_001069		3154871	-1	no_errors	ENST00000333628	ensembl	human	known	70_37	silent	SNP	0.003	C	C	3154871	A	C	3154871	2	2	38	1	0	0	0	0	0	0	0	1	16785	175	7	5		5	TUBB2A	6	3154871	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09		3154871	167960196	129	5333										
HIST1H2BC	8347	genome.wustl.edu	37	chr6	26123911	26123911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggcgggaagcctcgcccgcGatgcgctcaaatatgtcgtt	13	12	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:26123911G>C	ENST00000314332.5	-	1	227	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.I74M			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CCTCGCCCGCGATGCGCTCAA	0.582																																																	1	Substitution - coding silent(1)	lung(1)											120	118	119					6																	26123911		2203	4300	6503	SO:0001583	missense	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.222C>G	6.37:g.26123911G>C	ENSP00000321744:p.Ile74Met		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74M	ENST00000314332.5	37	c.222	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	15.98	2.992662	0.54041	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.46063	0.88;0.88	5.61	1.76	0.24704	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.43277	0.1240	.	.	.	0.28905	N	0.893058	D	0.58970	0.984	D	0.69824	0.966	T	0.25710	-1.0124	8	0.87932	D	0	.	6.3306	0.21269	0.2142:0.0:0.6573:0.1285	.	74	P62807	H2B1C_HUMAN	M	74	ENSP00000321744:I74M;ENSP00000380180:I74M	ENSP00000321744:I74M	I	-	3	3	HIST1H2BC	26231890	1.000000	0.71417	0.999000	0.59377	0.321000	0.28281	1.790000	0.38734	0.099000	0.17552	-0.911000	0.02809	ATC	HIST1H2BC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.582	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	G	NM_003526		26123911	-1	no_errors	ENST00000314332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26123911	G	C	26123911	3	2	38	1	0	0	0	0	1	0	0	0	7162	1048	37	1	162	1	HIST1H2BC	6	26123911	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	22969040	26123911	144991156	130	5334										
CYP21A2	1589	genome.wustl.edu	37	chr6	32008783	32008783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgcaggccttcacgctgctgCcctccggggacgccctgccc	12	19	1	0	rs6445	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:32008783C>T	ENST00000418967.2	+	10	1518	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P424S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	453					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CACGCTGCTGCCCTCCGGGGA	0.716													C|||	9	0.00179712	8e-04	0.0029	5008	,	,		16812	0		0.006	False		,,,				2504	0				Melanoma(174;1669 1998 3915 34700 46447)												0			GRCh37	CM920233	CYP21A2	M	rs6445						2	2	2					6																	32008783		1010	1912	2922	SO:0001583	missense	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1360C>T	6.37:g.32008783C>T	ENSP00000408860:p.Pro454Ser		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P454S	ENST00000418967.2	37	c.1360	CCDS4735.1	6	.	.	.	.	.	.	.	.	.	.	c	15.77	2.930926	0.52866	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.69040	-0.37;-0.37	4.6	3.72	0.42706	.	0.000000	0.48286	D	0.000188	T	0.67924	0.2945	M	0.67517	2.055	0.42608	A	0.993304	D;D	0.63880	0.993;0.988	D;D	0.65573	0.914;0.936	T	0.70995	-0.4720	9	0.49607	T	0.09	.	9.1229	0.36797	0.0:0.8984:0.0:0.1016	.	424;454	Q5ST44;Q16874	.;.	S	454;424	ENSP00000408860:P454S;ENSP00000415043:P424S	ENSP00000408860:P454S	P	+	1	0	CYP21A2	32116762	0.992000	0.36948	0.965000	0.40720	0.373000	0.29922	1.355000	0.34068	1.287000	0.44583	0.651000	0.88453	CCC	CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.716	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	C	NM_000500		32008783	1	no_errors	ENST00000418967	ensembl	human	known	70_37	missense	SNP	0.998	T	T	32008783	C	T	32008783	3	4	38	1	0	0	0	0	1	0	0	0	4158	739	26	4	2919	4	CYP21A2	6	32008783	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5884872	32008783	139106284	131	5335										
TNXB	7148	genome.wustl.edu	37	chr6	32012817	32012817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctgagaggggccccaggcgCttcccttcatggaggccata	14	13	1	1	rs113926083	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:32012817C>T	ENST00000375244.3	-	32	11094	c.10893G>A	c.(10891-10893)aaG>aaA	p.K3631K	TNXB_ENST00000451343.1_Silent_p.K60K|TNXB_ENST00000375247.2_Silent_p.K3629K			P22105	TENX_HUMAN	tenascin XB	3676	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCAGGCGCTTCCCTTCAT	0.642																																																	0													17	16	16					6																	32012817		1502	2704	4206	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10893G>A	6.37:g.32012817C>T			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.K3629	ENST00000375244.3	37	c.10887		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	C	NM_019105		32012817	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	silent	SNP	0.882	T	T	32012817	C	T	32012817	2	4	38	1	0	0	0	0	0	0	0	1	16376	796	28	4		4	TNXB	6	32012817	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4034	32012817	139102250	132	5336										
FKBPL	63943	genome.wustl.edu	37	chr6	32096556	32096556	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccagccctgcatcctggttCttcccctgaatgaccacctt	7	17	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:32096556C>T	ENST00000375156.3	-	2	1272	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	334					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CATCCTGGTTCTTCCCCTGAA	0.507																																																	0													175	186	182					6																	32096556		2203	4300	6503	SO:0001819	synonymous_variant	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.1002G>A	6.37:g.32096556C>T			A8K5V3|B0UYX8|Q9H5G3	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K334	ENST00000375156.3	37	c.1002	CCDS4738.1	6																																																																																			FKBPL	-	NULL		0.507	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32096556	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32096556	C	T	32096556	2	4	38	1	0	0	0	0	0	0	0	1	5934	912	32	1		1	FKBPL	6	32096556	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	83739	32096556	139018511	133	5337			1	25		3	3	588	C		2.786301e-05
FKBPL	63943	genome.wustl.edu	37	chr6	32097077	32097077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	catggactccaagcatttctCtatgagctccccccaagttt	6	14	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:32097077C>G	ENST00000375156.3	-	2	751	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										AAGCATTTCTCTATGAGCTCC	0.577																																																	0													178	187	184					6																	32097077		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.481G>C	6.37:g.32097077C>G	ENSP00000364298:p.Glu161Gln		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E161Q	ENST00000375156.3	37	c.481	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295715	0.81025	.	.	ENSG00000204315	ENST00000375156	D	0.85861	-2.04	5.38	5.38	0.77491	.	0.000000	0.45126	D	0.000388	D	0.84465	0.5478	N	0.24115	0.695	0.47374	D	0.999407	D	0.76494	0.999	D	0.66716	0.946	D	0.86806	0.1995	10	0.72032	D	0.01	-16.9716	16.6778	0.85284	0.0:1.0:0.0:0.0	.	161	Q9UIM3	FKBPL_HUMAN	Q	161	ENSP00000364298:E161Q	ENSP00000364298:E161Q	E	-	1	0	FKBPL	32205055	0.993000	0.37304	0.963000	0.40424	0.994000	0.84299	4.840000	0.62817	2.804000	0.96469	0.462000	0.41574	GAG	FKBPL	-	NULL		0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32097077	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	missense	SNP	0.994	G	G	32097077	C	G	32097077	3	3	38	1	0	0	0	0	1	0	0	0	5934	922	32	1	572	1	FKBPL	6	32097077	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	521	32097077	139017990	134	5338			1	25		3	3	588	C		2.786301e-05
FKBPL	63943	genome.wustl.edu	37	chr6	32097143	32097143	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agttagctctgtccagccctCtggcggccctgatccgaaag	11	14	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:32097143C>G	ENST00000375156.3	-	2	685	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GTCCAGCCCTCTGGCGGCCCT	0.562																																																	0													172	192	185					6																	32097143		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.415G>C	6.37:g.32097143C>G	ENSP00000364298:p.Glu139Gln		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E139Q	ENST00000375156.3	37	c.415	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700327	0.48307	.	.	ENSG00000204315	ENST00000375156	T	0.81415	-1.49	5.23	4.35	0.52113	.	0.407546	0.22055	N	0.065257	T	0.47911	0.1471	N	0.24115	0.695	0.29606	N	0.847302	B	0.20550	0.046	B	0.18263	0.021	T	0.31943	-0.9925	10	0.34782	T	0.22	-15.0424	7.0876	0.25266	0.0:0.735:0.1755:0.0895	.	139	Q9UIM3	FKBPL_HUMAN	Q	139	ENSP00000364298:E139Q	ENSP00000364298:E139Q	E	-	1	0	FKBPL	32205121	0.446000	0.25665	0.999000	0.59377	0.985000	0.73830	1.152000	0.31663	1.410000	0.46936	0.462000	0.41574	GAG	FKBPL	-	NULL		0.562	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32097143	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	missense	SNP	0.999	G	G	32097143	C	G	32097143	3	3	38	1	0	0	0	0	1	0	0	0	5934	922	32	1	638	1	FKBPL	6	32097143	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	66	32097143	139017924	135	5339			1	25		3	3	588	C		2.786301e-05
HLA-DQB1	3119	genome.wustl.edu	37	chr6	32629764	32629764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccactccacggtgatggggCtctggaggctggggtgctcc	17	12	1	1	rs1130398	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:32629764C>T	ENST00000399082.3	-	2	415	c.371G>A	c.(370-372)aGc>aAc	p.S124N	HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.S214N|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.S214N|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.S214N|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.S214N			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	214	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GGTGATGGGGCTCTGGAGGCT	0.537									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	1981	0.395567	0.3154	0.5476	5008	,	,		17107	0.4782		0.3946	False		,,,				2504	0.3119				Esophageal Squamous(151;720 1825 15000 40336 43415)												0								T	ASN/SER	1305,3089		211,883,1103	54	59	57		641	1.6	0.9	6	dbSNP_86	57	3090,5502		594,1902,1800	yes	missense	HLA-DQB1	NM_002123.4	46	805,2785,2903	TT,TC,CC		35.9637,29.6996,33.8441	benign	214/262	32629764	4395,8591	2197	4296	6493	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.371G>A	6.37:g.32629764C>T	ENSP00000382032:p.Ser124Asn		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.S214N	ENST00000399082.3	37	c.641		6	930	0.4258241758241758	152	0.3089430894308943	190	0.5248618784530387	283	0.49475524475524474	305	0.4023746701846966	.	5.911	0.352128	0.11182	0.296996	0.359637	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084	T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09	4.52	1.62	0.23740	.	0.726356	0.13327	N	0.396223	T	0.00784	0.0026	.	.	.	0.52099	P	5.999999999994898E-5	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.45977	-0.9224	8	0.59425	D	0.04	.	3.5408	0.07811	0.0:0.4996:0.1955:0.3049	rs1130398;rs3189185;rs9273924;rs12722372;rs17412846;rs28724254;rs34909169	214;179;214;214	A2AAZ0;A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.;.	N	124;214;214;214;214	ENSP00000382032:S124N;ENSP00000382029:S214N;ENSP00000364080:S214N;ENSP00000407332:S214N;ENSP00000382034:S214N	ENSP00000364080:S214N	S	-	2	0	HLA-DQB1	32737742	0.000000	0.05858	0.933000	0.37362	0.413000	0.31143	-0.126000	0.10563	0.319000	0.23209	-0.642000	0.03964	AGC	HLA-DQB1	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.537	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276131.1	C	NM_002123		32629764	-1	no_errors	ENST00000374943	ensembl	human	known	70_37	missense	SNP	0.989	T	T	32629764	C	T	32629764	3	4	38	1	0	0	0	0	1	0	0	0	7226	797	28	4	156	4	HLA-DQB1	6	32629764	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	532621	32629764	138485303	136	5340										
FOXP4	116113	genome.wustl.edu	37	chr6	41555242	41555242	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctactgtgctcacatctcgGagagacaggtacaggggtcc	12	12	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:41555242G>C	ENST00000307972.4	+	6	876	c.864G>C	c.(862-864)cgG>cgC	p.R288R	FOXP4_ENST00000373060.1_Silent_p.R288R|FOXP4_ENST00000373063.3_Silent_p.R287R|FOXP4_ENST00000409208.1_Silent_p.R288R|FOXP4_ENST00000373057.3_Silent_p.R286R			Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCACATCTCGGAGAGACAGGT	0.672											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													49	54	52					6																	41555242		2203	4300	6503	SO:0001819	synonymous_variant	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.864G>C	6.37:g.41555242G>C		902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R288	ENST00000307972.4	37	c.864	CCDS34447.1	6																																																																																			FOXP4	-	NULL		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1	G	NM_138457		41555242	1	no_errors	ENST00000307972	ensembl	human	known	70_37	silent	SNP	1.000	C	C	41555242	G	C	41555242	2	2	38	1	0	0	0	0	0	0	0	1	6047	1161	41	1		1	FOXP4	6	41555242	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	8925478	41555242	129559825	137	5341										
CYP39A1	51302	genome.wustl.edu	37	chr6	46604179	46604179	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tatatctggaatgtttttctCaaacagttccaggaaccact	6	9	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:46604179C>T	ENST00000275016.2	-	5	882	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	227					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						ATGTTTTTCTCAAACAGTTCC	0.289																																																	0													52	53	52					6																	46604179		2203	4291	6494	SO:0001583	missense	51302			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.679G>A	6.37:g.46604179C>T	ENSP00000275016:p.Glu227Lys		Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E227K	ENST00000275016.2	37	c.679	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639540	0.47153	.	.	ENSG00000146233	ENST00000275016	T	0.68331	-0.32	5.97	5.97	0.96955	.	0.250920	0.42548	D	0.000685	T	0.53965	0.1829	L	0.55834	1.745	0.40827	D	0.983557	P;P	0.41978	0.602;0.767	P;P	0.49561	0.531;0.615	T	0.54892	-0.8225	10	0.06891	T	0.86	-9.5597	12.5242	0.56077	0.0:0.9232:0.0:0.0768	.	207;227	B7Z786;Q9NYL5	.;CP39A_HUMAN	K	227	ENSP00000275016:E227K	ENSP00000275016:E227K	E	-	1	0	CYP39A1	46712138	1.000000	0.71417	0.882000	0.34594	0.056000	0.15407	2.786000	0.47790	2.838000	0.97847	0.561000	0.74099	GAG	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.289	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	C			46604179	-1	no_errors	ENST00000275016	ensembl	human	known	70_37	missense	SNP	0.996	T	T	46604179	C	T	46604179	3	4	38	1	0	0	0	0	1	0	0	0	4182	835	29	1	762	1	CYP39A1	6	46604179	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5048937	46604179	124510888	138	5342										
PKHD1	5314	genome.wustl.edu	37	chr6	51907736	51907736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggtcttctccagtggcactGatggcaagaccagagggtct	13	10	3	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:51907736G>A	ENST00000371117.3	-	27	3293	c.3018C>T	c.(3016-3018)atC>atT	p.I1006I	PKHD1_ENST00000340994.4_Silent_p.I1006I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1006	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGTGGCACTGATGGCAAGAC	0.478																																																	0													111	107	108					6																	51907736		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3018C>T	6.37:g.51907736G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.I1006	ENST00000371117.3	37	c.3018	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Ig_E-set		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51907736	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.027	A	A	51907736	G	A	51907736	2	1	38	1	0	0	0	0	0	0	0	1	11995	1280	45	1		1	PKHD1	6	51907736	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5303557	51907736	119207331	139	5343										
FIG4	9896	genome.wustl.edu	37	chr6	110107615	110107615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	catatgagttgagcagctttGatgataccttttgcttggct	10	7	0	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:110107615G>C	ENST00000230124.3	+	18	2183	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	FIG4_ENST00000441478.2_Missense_Mutation_p.D410H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	687					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAGCAGCTTTGATGATACCTT	0.358																																																	0													178	171	173					6																	110107615		2203	4300	6503	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2059G>C	6.37:g.110107615G>C	ENSP00000230124:p.Asp687His		Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.D687H	ENST00000230124.3	37	c.2059	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552182	0.65311	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.53857	1.91;0.6	5.71	4.84	0.62591	.	0.099314	0.64402	D	0.000002	T	0.50548	0.1622	L	0.27053	0.805	0.58432	D	0.999999	P;D	0.71674	0.741;0.998	B;D	0.69142	0.336;0.962	T	0.58405	-0.7642	10	0.54805	T	0.06	-19.5867	16.5139	0.84294	0.0:0.0:0.8682:0.1318	.	410;687	F5H8L9;Q92562	.;FIG4_HUMAN	H	410;687	ENSP00000399443:D410H;ENSP00000230124:D687H	ENSP00000230124:D687H	D	+	1	0	FIG4	110214308	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.174000	0.94824	1.546000	0.49388	0.650000	0.86243	GAT	FIG4	-	NULL		0.358	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110107615	1	no_errors	ENST00000230124	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110107615	G	C	110107615	3	2	38	1	0	0	0	0	1	0	0	0	5906	1290	45	1	2129	1	FIG4	6	110107615	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	58199879	110107615	61007452	140	5344										
HBS1L	10767	genome.wustl.edu	37	chr6	135286429	135286429	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgacccatcattcttttatCtgttaaaacaaaaaaaaaaa	2	8	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:135286429C>T	ENST00000367837.5	-	18	2250		c.e18-1		HBS1L_ENST00000445176.2_Splice_Site|HBS1L_ENST00000527578.1_Splice_Site|HBS1L_ENST00000415177.2_Splice_Site|HBS1L_ENST00000367824.4_Splice_Site|HBS1L_ENST00000367826.2_Splice_Site	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ATTCTTTTATCTGTTAAAACA	0.289																																																	0													60	62	61					6																	135286429		2200	4296	6496	SO:0001630	splice_region_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.2044-1G>A	6.37:g.135286429C>T			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Splice_Site	SNP	-	e18-1	ENST00000367837.5	37	c.2044-1	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708413	0.68615	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1762	0.86842	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HBS1L	135328122	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.337000	0.59310	2.838000	0.97847	0.655000	0.94253	.	HBS1L	-	-		0.289	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C		Intron	135286429	-1	no_errors	ENST00000367837	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	135286429	C	T	135286429	5	4	38	1	0	0	0	0	0	0	1	0	7007	927	32	1	15	1	HBS1L	6	135286429	Splice_Site	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	25178814	135286429	35828638	141	5345										
HBS1L	10767	genome.wustl.edu	37	chr6	135287550	135287550	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttaaagtctttatatagctCaagagctattggtctttgtg	8	5	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:135287550C>G	ENST00000367837.5	-	17	2166	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	HBS1L_ENST00000445176.2_Missense_Mutation_p.E378Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.E490Q|HBS1L_ENST00000415177.2_Missense_Mutation_p.E589Q|HBS1L_ENST00000367824.4_Missense_Mutation_p.E490Q|HBS1L_ENST00000367826.2_Missense_Mutation_p.E612Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	654					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTATATAGCTCAAGAGCTATT	0.358																																																	0													144	136	139					6																	135287550		2203	4300	6503	SO:0001583	missense	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1960G>C	6.37:g.135287550C>G	ENSP00000356811:p.Glu654Gln		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.E654Q	ENST00000367837.5	37	c.1960	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.219180	0.95104	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.71222	-0.54;-0.46;-0.47;-0.55;-0.46;-0.51;0.59	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88036	0.2778	10	0.87932	D	0	-21.7016	20.4008	0.98991	0.0:1.0:0.0:0.0	.	612;654	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	Q	654;490;589;612;490;524;378	ENSP00000356811:E654Q;ENSP00000436256:E490Q;ENSP00000389826:E589Q;ENSP00000356800:E612Q;ENSP00000356798:E490Q;ENSP00000434533:E524Q;ENSP00000415305:E378Q	ENSP00000356798:E490Q	E	-	1	0	HBS1L	135329243	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	7.265000	0.78442	2.826000	0.97356	0.655000	0.94253	GAG	HBS1L	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C		0.358	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135287550	-1	no_errors	ENST00000367837	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135287550	C	G	135287550	3	3	38	1	0	0	0	0	1	0	0	0	7007	835	29	1	102	1	HBS1L	6	135287550	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1121	135287550	35827517	142	5346										
PDE7B	27115	genome.wustl.edu	37	chr6	136512915	136512915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggggcagcagtggcagcggGcctgaccacgaccacgcagg	17	13	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:136512915G>A	ENST00000308191.6	+	13	1593	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	430					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTGGCAGCGGGCCTGACCACG	0.672																																																	0													30	29	29					6																	136512915		2199	4291	6490	SO:0001819	synonymous_variant	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1290G>A	6.37:g.136512915G>A			Q5W154	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.G430	ENST00000308191.6	37	c.1290	CCDS5175.1	6																																																																																			PDE7B	-	NULL		0.672	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	HGNC	protein_coding	OTTHUMT00000042371.1	G			136512915	1	no_errors	ENST00000308191	ensembl	human	known	70_37	silent	SNP	0.000	A	A	136512915	G	A	136512915	2	1	38	1	0	0	0	0	0	0	0	1	11676	1190	42	4		4	PDE7B	6	136512915	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1225365	136512915	34602152	143	5347										
MAP7	9053	genome.wustl.edu	37	chr6	136687065	136687065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccgggggatgggggccggaCctgagcaggagcagctttga	20	9	0	2	rs35350783	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:136687065C>T	ENST00000354570.3	-	10	1491	c.1081G>A	c.(1081-1083)Gtc>Atc	p.V361I	RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000454590.1_Missense_Mutation_p.V383I|MAP7_ENST00000544465.1_Missense_Mutation_p.V346I|MAP7_ENST00000432797.2_Missense_Mutation_p.V215I|MAP7_ENST00000438100.2_Missense_Mutation_p.V346I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	361	Pro-rich.		V -> I (in dbSNP:rs35350783).		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGGGGCCGGACCTGAGCAGGA	0.587													C|||	69	0.013778	0	0.0245	5008	,	,		16642	0		0.0398	False		,,,				2504	0.0123																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	25,4381	31.7+/-61.6	1,23,2179	67	69	68		1147,1171,1036,1147,1036,970,799,643,643,1081	0.8	0.1	6	dbSNP_126	68	312,8288	111.8+/-172.0	5,302,3993	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	29,29,29,29,29,29,29,29,29,29	6,325,6172	TT,TC,CC		3.6279,0.5674,2.5911	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	383/772,391/780,346/735,383/772,346/735,324/713,267/656,215/604,215/604,361/750	136687065	337,12669	2203	4300	6503	SO:0001583	missense	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1081G>A	6.37:g.136687065C>T	ENSP00000346581:p.Val361Ile		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_E-MAP-115	p.V383I	ENST00000354570.3	37	c.1147	CCDS5178.1	6	45	0.020604395604395604	0	0.0	12	0.03314917127071823	0	0.0	33	0.04353562005277045	C	14.10	2.435414	0.43224	0.005674	0.036279	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.8	0.749	0.18381	.	1.589500	0.03691	N	0.247014	T	0.02193	0.0068	L	0.33485	1.01	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001;0.001;0.0	T	0.43637	-0.9379	10	0.38643	T	0.18	1.2411	6.2258	0.20708	0.0:0.3989:0.3265:0.2746	rs35350783	346;383;346;383;267;324;361	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	I	361;383;346;346;215;267	ENSP00000346581:V361I;ENSP00000414712:V383I;ENSP00000445737:V346I;ENSP00000400790:V346I;ENSP00000414879:V215I	ENSP00000344217:V267I	V	-	1	0	MAP7	136728758	0.012000	0.17670	0.126000	0.21872	0.948000	0.59901	-0.066000	0.11598	0.100000	0.17581	0.650000	0.86243	GTC	MAP7	-	NULL		0.587	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	C	NM_003980		136687065	-1	no_errors	ENST00000454590	ensembl	human	known	70_37	missense	SNP	0.014	T	T	136687065	C	T	136687065	3	4	38	1	0	0	0	0	1	0	0	0	9289	507	18	4	1204	4	MAP7	6	136687065	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	174150	136687065	34428002	144	5348										
C6orf97	80129	genome.wustl.edu	37	chr6	151936652	151936652	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	caactggagaagatgaaggaGaaagctgagaaaaagctcat	12	5	1	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:151936652G>A	ENST00000239374.7	+	10	1884	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Silent_p.E602E	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	595								p.E595D(1)									AGATGAAGGAGAAAGCTGAGA	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											145	141	142					6																	151936652		1855	4096	5951	SO:0001819	synonymous_variant	80129			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1785G>A	6.37:g.151936652G>A			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.E602	ENST00000239374.7	37	c.1806	CCDS43515.1	6																																																																																			CCDC170	-	superfamily_Prefoldin		0.393	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	G	NM_025059		151936652	1	no_errors	ENST00000367290	ensembl	human	known	70_37	silent	SNP	1.000	A	A	151936652	G	A	151936652	2	1	38	1	0	0	0	0	0	0	0	1	2379	933	33	1		1	C6orf97	6	151936652	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	15249587	151936652	19178415	145	5349										
TULP4	56995	genome.wustl.edu	37	chr6	158870081	158870081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtcatggattgccacggcagAatgctggcccacgtcctctt	11	13	2	1	rs705956	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:158870081A>G	ENST00000367097.3	+	4	1954	c.597A>G	c.(595-597)agA>agG	p.R199R	TULP4_ENST00000367094.2_Silent_p.R199R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	199			R -> S (in dbSNP:rs705956).		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCCACGGCAGAATGCTGGCCC	0.612													G|||	3032	0.605431	0.7844	0.5288	5008	,	,		20217	0.3968		0.5895	False		,,,				2504	0.6493																0								G	,	3371,1035	381.6+/-324.1	1305,761,137	166	121	136		597,597	3.5	1	6	dbSNP_86	136	5009,3591	519.7+/-379.5	1469,2071,760	no	coding-synonymous,coding-synonymous	TULP4	NM_001007466.1,NM_020245.3	,	2774,2832,897	GG,GA,AA		41.7558,23.4907,35.5682	,	199/679,199/1544	158870081	8380,4626	2203	4300	6503	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.597A>G	6.37:g.158870081A>G			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R199	ENST00000367097.3	37	c.597	CCDS34561.1	6																																																																																			TULP4	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.612	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	A	NM_020245		158870081	1	no_errors	ENST00000367097	ensembl	human	known	70_37	silent	SNP	1.000	G	G	158870081	A	G	158870081	2	3	38	1	0	0	0	0	0	0	0	1	16807	243	9	5		5	TULP4	6	158870081	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	6933429	158870081	12244986	146	5350										
MRPL18	29074	genome.wustl.edu	37	chr6	160211646	160211648	+	In_Frame_Del	DEL	GTT	GTT	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cttcggtcgcggttttggggGttgttctcggtttgcaggaa					rs58504486|rs79336325	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:160211646_160211648delGTT	ENST00000367034.4	+	1	149_151	c.27_29delGTT	c.(25-30)gggttg>ggg	p.L10del	TCP1_ENST00000544255.1_5'Flank|TCP1_ENST00000392168.2_5'Flank|MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000546023.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	10				Missing (in Ref. 2; AAF29043). {ECO:0000305}.	rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GGTTTTGGGGGTTGTTCTCGGTT	0.571														3331	0.665136	0.4818	0.8285	5008	,	,		17145	0.5883		0.7575	False		,,,				2504	0.7812																0										2244,2020		587,1070,475						2.9	0		dbSNP_130	101	6166,2086		2314,1538,274	no	coding	MRPL18	NM_014161.3		2901,2608,749	A1A1,A1R,RR		25.2787,47.3734,32.806				8410,4106				SO:0001651	inframe_deletion	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.27_29delGTT	6.37:g.160211649_160211651delGTT	ENSP00000356001:p.Leu10del		Q5TAP9|Q9NZW8	In_Frame_Del	DEL	pfam_Ribosomal_L18/L5	p.L10in_frame_del	ENST00000367034.4	37	c.27_29	CCDS5270.1	6																																																																																			MRPL18	-	NULL		0.571	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL18	HGNC	protein_coding	OTTHUMT00000042925.1	GTT			160211648	1	no_errors	ENST00000367034	ensembl	human	known	70_37	in_frame_del	DEL	0.010:0.006:0.000	-	-	160211648	GTT	-	160211646	7	5	38	1	0	1	0	1	0	0	0	0	9806	1248	44	0	29	0	MRPL18	6	160211646	In_Frame_Del	DEL	GTT	TCGA-C5-A3HE-01A-21D-A22X-09	1341565	160211646	10903421	147	5351										
SLC22A1	6580	genome.wustl.edu	37	chr6	160560881	160560883	+	In_Frame_Del	DEL	ATG	ATG	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cgggggcagcctgcctcgtcAtgatttttatctcacctggt					rs202220802|rs72552763|rs35191146|rs142448543|rs34305973|rs35167514	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:160560881_160560883delATG	ENST00000366963.4	+	7	1405_1407	c.1258_1260delATG	c.(1258-1260)atgdel	p.M420del	SLC22A1_ENST00000457470.2_In_Frame_Del_p.M420del|SLC22A1_ENST00000324965.4_In_Frame_Del_p.M420del	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	420			Missing (no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408). {ECO:0000269|PubMed:12439218, ECO:0000269|PubMed:12719534, ECO:0000269|PubMed:14702039}.		dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CTGCCTCGTCATGATTTTTATCT	0.517														592	0.118211	0.0454	0.2882	5008	,	,		14486	0.005		0.1839	False		,,,				2504	0.1452																0			GRCh37	CD072492	SLC22A1	D	rs35191146																																			SO:0001651	inframe_deletion	6580			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1258_1260delATG	6.37:g.160560881_160560883delATG	ENSP00000355930:p.Met420del		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	In_Frame_Del	DEL	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.M420in_frame_del	ENST00000366963.4	37	c.1258_1260	CCDS5274.1	6																																																																																			SLC22A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.517	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	ATG			160560883	1	no_errors	ENST00000366963	ensembl	human	known	70_37	in_frame_del	DEL	0.394:0.028:0.014	-	-	160560883	ATG	-	160560881	7	5	38	1	0	1	0	1	0	0	0	0	14470	217	8	0	1284	0	SLC22A1	6	160560881	In_Frame_Del	DEL	ATG	TCGA-C5-A3HE-01A-21D-A22X-09	349235	160560881	10554186	148	5352										
C6orf120	387263	genome.wustl.edu	37	chr6	170102991	170102991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcgagcagcacccgttcggcGaggccgcctaccccgccgac	12	19	0	0	rs144632729	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr6:170102991G>A	ENST00000332290.2	+	1	735	c.436G>A	c.(436-438)Gag>Aag	p.E146K	WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.E165K|WDR27_ENST00000420344.2_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	146					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCCGTTCGGCGAGGCCGCCTA	0.647																																																	0													17	18	18					6																	170102991		2194	4284	6478	SO:0001583	missense	387263			AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.436G>A	6.37:g.170102991G>A	ENSP00000346931:p.Glu146Lys		B4DHE9|E1P5C9	Missense_Mutation	SNP	NULL	p.E165K	ENST00000332290.2	37	c.493	CCDS34575.1	6	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213330	0.58452	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.34	4.46	0.54185	.	0.132959	0.49916	U	0.000132	T	0.18467	0.0443	L	0.43923	1.385	0.25581	N	0.986796	B;B	0.28880	0.226;0.093	B;B	0.17098	0.017;0.017	T	0.04178	-1.0971	9	0.44086	T	0.13	-18.1969	12.9277	0.58270	0.0783:0.0:0.9217:0.0	.	165;146	B4DJ79;Q7Z4R8	.;CF120_HUMAN	K	165;146	.	ENSP00000346931:E146K	E	+	1	0	C6orf120	169844916	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	4.862000	0.62976	2.676000	0.91093	0.650000	0.86243	GAG	C6orf120	-	NULL		0.647	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf120	HGNC	protein_coding	OTTHUMT00000043214.1	G	NM_001029863		170102991	1	no_errors	ENST00000439249	ensembl	human	known	70_37	missense	SNP	0.420	A	A	170102991	G	A	170102991	3	1	38	1	0	0	0	0	1	0	0	0	2329	1059	37	1	438	1	C6orf120	6	170102991	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9542110	170102991	1012076	149	5353										
C7orf27	221927	genome.wustl.edu	37	chr7	2583486	2583486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cggcaggcagggctgcccctCggctccacctcgcatggaca	13	17	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:2583486C>T	ENST00000340611.4	-	5	797	c.541G>A	c.(541-543)Gag>Aag	p.E181K	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	181					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGCTGCCCCTCGGCTCCACCT	0.657																																																	0													39	46	44					7																	2583486		2203	4300	6503	SO:0001583	missense	221927			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.541G>A	7.37:g.2583486C>T	ENSP00000339637:p.Glu181Lys		A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E181K	ENST00000340611.4	37	c.541	CCDS5334.1	7	.	.	.	.	.	.	.	.	.	.	C	4.919	0.170687	0.09391	.	.	ENSG00000106009	ENST00000340611	D	0.90676	-2.71	5.71	-2.71	0.05986	Armadillo-type fold (1);	3.044690	0.00807	N	0.001462	D	0.83403	0.5247	L	0.47716	1.5	0.09310	N	1	B;B	0.21688	0.003;0.059	B;B	0.06405	0.001;0.002	T	0.67492	-0.5657	10	0.08381	T	0.77	-1.2507	3.4159	0.07376	0.0967:0.151:0.3829:0.3695	.	181;181	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	K	181	ENSP00000339637:E181K	ENSP00000339637:E181K	E	-	1	0	BRAT1	2550012	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.120000	0.01323	-0.503000	0.06586	-0.126000	0.14955	GAG	BRAT1	-	superfamily_ARM-type_fold		0.657	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	C	NM_152743		2583486	-1	no_errors	ENST00000340611	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2583486	C	T	2583486	3	4	38	1	0	0	0	0	1	0	0	0	2387	893	31	1	1964	1	C7orf27	7	2583486	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		2583486	156555177	150	5354										
DPY19L1	23333	genome.wustl.edu	37	chr7	34971262	34971262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtgaggtttggaatccttcaCcaagaggttacataagggag	13	6	1	2	rs200053924		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:34971262C>T	ENST00000310974.4	-	22	2095	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	651						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GAATCCTTCACCAAGAGGTTA	0.428																																																	0								C	MET/VAL	0,3590		0,0,1795	52	44	46		1951	5.3	1	7		46	1,8085		0,1,4042	no	missense	DPY19L1	NM_015283.1	21	0,1,5837	TT,TC,CC		0.0124,0.0,0.0086	benign	651/676	34971262	1,11675	1795	4043	5838	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1951G>A	7.37:g.34971262C>T	ENSP00000308695:p.Val651Met		O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.V651M	ENST00000310974.4	37	c.1951	CCDS43567.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.810455|1.810455	0.32053|0.32053	0.0|0.0	1.24E-4|1.24E-4	ENSG00000173852|ENSG00000173852	ENST00000428054|ENST00000389292;ENST00000310974	.|T	.|0.55052	.|0.54	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.281316	.|0.35349	.|N	.|0.003262	T|T	0.50922|0.50922	0.1644|0.1644	N|N	0.17474|0.17474	0.49|0.49	0.29148|0.29148	N|N	0.878576|0.878576	.|D	.|0.62365	.|0.991	.|P	.|0.62014	.|0.897	T|T	0.46345|0.46345	-0.9198|-0.9198	5|10	.|0.29301	.|T	.|0.29	-18.8071|-18.8071	11.2867|11.2867	0.49226|0.49226	0.0:0.9066:0.0:0.0934|0.0:0.9066:0.0:0.0934	.|.	.|651	.|Q2PZI1	.|D19L1_HUMAN	D|M	58|61;651	.|ENSP00000308695:V651M	.|ENSP00000308695:V651M	G|V	-|-	2|1	0|0	DPY19L1|DPY19L1	34937787|34937787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.492000|2.492000	0.45311|0.45311	2.462000|2.462000	0.83206|0.83206	0.643000|0.643000	0.83706|0.83706	GGT|GTG	DPY19L1	-	pfam_Dpy-19		0.428	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	C			34971262	-1	no_errors	ENST00000310974	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34971262	C	T	34971262	3	4	38	1	0	0	0	0	1	0	0	0	4750	507	18	4	80	4	DPY19L1	7	34971262	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	32387776	34971262	124167401	151	5355										
ABCA13	154664	genome.wustl.edu	37	chr7	48311467	48311467	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acaaatgaactttcttttatCatttgtggaattttttgaga	6	4	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:48311467C>T	ENST00000435803.1	+	17	2228	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	735					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCTTTTATCATTTGTGGAA	0.358																																																	0													52	49	50					7																	48311467		1806	4070	5876	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2204C>T	7.37:g.48311467C>T	ENSP00000411096:p.Ser735Leu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S735L	ENST00000435803.1	37	c.2204	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603254	0.46423	.	.	ENSG00000179869	ENST00000435803	D	0.86497	-2.13	5.71	1.63	0.23807	.	0.696627	0.12127	N	0.497127	T	0.80607	0.4655	L	0.55481	1.735	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.70799	-0.4774	10	0.72032	D	0.01	.	1.4587	0.02391	0.1563:0.46:0.1347:0.249	.	735	Q86UQ4	ABCAD_HUMAN	L	735	ENSP00000411096:S735L	ENSP00000411096:S735L	S	+	2	0	ABCA13	48282013	0.000000	0.05858	0.001000	0.08648	0.950000	0.60333	0.352000	0.20113	0.770000	0.33336	0.585000	0.79938	TCA	ABCA13	-	NULL		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48311467	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	T	T	48311467	C	T	48311467	3	4	38	1	0	0	0	0	1	0	0	0	31	838	29	1	2099	1	ABCA13	7	48311467	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	13340205	48311467	110827196	152	5356										
CLIP2	7461	genome.wustl.edu	37	chr7	73815874	73815874	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgcaaacggcatccaccagCaggacaaagctcagaaacaa	8	13	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:73815874C>G	ENST00000395060.1	+	15	3106	c.3106C>G	c.(3106-3108)Cag>Gag	p.Q1036E	CLIP2_ENST00000223398.6_Missense_Mutation_p.Q1036E|CLIP2_ENST00000361545.5_Missense_Mutation_p.Q1001E			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	1036						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCACCAGCAGGACAAAGC	0.577											OREG0018117	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	51	56					7																	73815874		2203	4300	6503	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.3106C>G	7.37:g.73815874C>G	ENSP00000378500:p.Gln1036Glu	1148	O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.Q1036E	ENST00000395060.1	37	c.3106	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	C	9.605	1.129826	0.21041	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.62788	0.0;-0.0;0.0	3.94	3.94	0.45596	.	0.291502	0.33382	N	0.004961	T	0.42787	0.1218	N	0.11560	0.145	0.24898	N	0.992123	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.28170	-1.0052	10	0.31617	T	0.26	-0.9363	15.0006	0.71469	0.0:1.0:0.0:0.0	.	1001;1036	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	E	1036;1036;1001;1036	ENSP00000223398:Q1036E;ENSP00000355151:Q1001E;ENSP00000378500:Q1036E	ENSP00000223398:Q1036E	Q	+	1	0	CLIP2	73453810	1.000000	0.71417	0.999000	0.59377	0.432000	0.31715	4.035000	0.57297	1.960000	0.56953	0.456000	0.33151	CAG	CLIP2	-	NULL		0.577	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	C	NM_003388		73815874	1	no_errors	ENST00000223398	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73815874	C	G	73815874	3	3	38	1	0	0	0	0	1	0	0	0	3538	711	25	4	3164	4	CLIP2	7	73815874	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	25504407	73815874	85322789	153	5357										
POM121C	100101267	genome.wustl.edu	37	chr7	75048104	75048104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttttgcgggtgtgctgccttCgggcctgcagtcgctgtcga	15	11	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:75048104C>T	ENST00000257665.5	-	13	3664	c.3665G>A	c.(3664-3666)cGa>cAa	p.R1222Q	POM121C_ENST00000453279.2_Missense_Mutation_p.R980Q|NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1222	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGCTGCCTTCGGGCCTGCAG	0.582																																																	0													10	13	12					7																	75048104		2104	4178	6282	SO:0001583	missense	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3665G>A	7.37:g.75048104C>T	ENSP00000257665:p.Arg1222Gln		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.R1222Q	ENST00000257665.5	37	c.3665		7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058774	0.76074	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.63913	1.34;-0.07	2.87	2.87	0.33458	.	.	.	.	.	T	0.74581	0.3735	M	0.67397	2.05	0.36210	D	0.851321	D	0.76494	0.999	D	0.79108	0.992	T	0.80993	-0.1134	9	0.87932	D	0	.	11.2806	0.49192	0.0:1.0:0.0:0.0	.	1222	A8CG34	P121C_HUMAN	Q	1222;980	ENSP00000257665:R1222Q;ENSP00000414208:R980Q	ENSP00000257665:R1222Q	R	-	2	0	POM121C	74886040	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.548000	0.67255	1.596000	0.50062	0.400000	0.26472	CGA	POM121C	-	NULL		0.582	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	POM121C	HGNC	protein_coding	OTTHUMT00000343919.2	C	NM_001099415		75048104	-1	no_errors	ENST00000257665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75048104	C	T	75048104	3	4	38	1	0	0	0	0	1	0	0	0	12264	884	31	1	28	1	POM121C	7	75048104	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1232230	75048104	84090559	154	5358										
SRCRB4D	136853	genome.wustl.edu	37	chr7	76033741	76033741	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggggaccaattagcatctCtgcttccttgtgcatctaga	9	11	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:76033741C>T	ENST00000275560.3	-	2	363	c.16G>A	c.(16-18)Gag>Aag	p.E6K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.E6K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATTAGCATCTCTGCTTCCTTG	0.542																																																	1	Substitution - Missense(1)	urinary_tract(1)											136	128	131					7																	76033741		2203	4300	6503	SO:0001583	missense	136853																														ENST00000275560.3:c.16G>A	7.37:g.76033741C>T	ENSP00000275560:p.Glu6Lys			Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.E6K	ENST00000275560.3	37	c.16	CCDS5585.1	7	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297007	0.60086	.	.	ENSG00000146700	ENST00000275560	T	0.01272	5.07	4.99	4.09	0.47781	.	0.826433	0.10648	N	0.650169	T	0.02342	0.0072	L	0.59436	1.845	0.80722	D	1	B	0.31318	0.319	B	0.24155	0.051	T	0.51710	-0.8671	10	0.62326	D	0.03	.	11.4779	0.50308	0.0:0.8188:0.1812:0.0	.	6	Q8WTU2	SRB4D_HUMAN	K	6	ENSP00000275560:E6K	ENSP00000275560:E6K	E	-	1	0	SRCRB4D	75871677	1.000000	0.71417	0.507000	0.27676	0.225000	0.24961	2.031000	0.41117	1.443000	0.47586	0.552000	0.68991	GAG	SRCRB4D	-	NULL		0.542	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	C			76033741	-1	no_errors	ENST00000275560	ensembl	human	known	70_37	missense	SNP	0.915	T	T	76033741	C	T	76033741	3	4	38	1	0	0	0	0	1	0	0	0	15167	922	32	1	1751	1	SRCRB4D	7	76033741	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	985637	76033741	83104922	155	5359										
DTX2	113878	genome.wustl.edu	37	chr7	76112111	76112111	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccttacccggtgaccaccatCatcgctccgccgggccacac	8	20	1	1	rs143776913	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:76112111C>T	ENST00000324432.5	+	5	1065	c.555C>T	c.(553-555)atC>atT	p.I185I	DTX2_ENST00000446820.2_Silent_p.I185I|DTX2_ENST00000430490.2_Silent_p.I185I|DTX2_ENST00000307569.8_Silent_p.I185I|DTX2_ENST00000446600.1_Silent_p.I94I|DTX2_ENST00000413936.2_Silent_p.I185I	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	185					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGACCACCATCATCGCTCCGC	0.652																																																	0													48	49	49					7																	76112111		2203	4299	6502	SO:0001819	synonymous_variant	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.555C>T	7.37:g.76112111C>T			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.I185	ENST00000324432.5	37	c.555	CCDS5587.1	7																																																																																			DTX2	-	NULL		0.652	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	C			76112111	1	no_errors	ENST00000324432	ensembl	human	known	70_37	silent	SNP	0.331	T	T	76112111	C	T	76112111	2	4	38	1	0	0	0	0	0	0	0	1	4804	816	29	1		1	DTX2	7	76112111	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	78370	76112111	83026552	156	5360										
PHTF2	57157	genome.wustl.edu	37	chr7	77580942	77580942	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttttataaaagataaacctCtacttgaaaatggagaaaaa	5	4	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:77580942C>G	ENST00000248550.7	+	17	2200	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	PHTF2_ENST00000275575.7_Silent_p.L618L|PHTF2_ENST00000416283.2_Silent_p.L674L|PHTF2_ENST00000307305.8_Silent_p.L670L|PHTF2_ENST00000422959.2_Silent_p.L674L			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	708					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						AGATAAACCTCTACTTGAAAA	0.279																																																	0													25	24	24					7																	77580942		1673	3762	5435	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.2124C>G	7.37:g.77580942C>G			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	pfam_TF_homeodomain_male	p.L708	ENST00000248550.7	37	c.2124		7																																																																																			PHTF2	-	NULL		0.279	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	C	NM_020432		77580942	1	no_errors	ENST00000248550	ensembl	human	known	70_37	silent	SNP	1.000	G	G	77580942	C	G	77580942	2	3	38	1	0	0	0	0	0	0	0	1	11887	900	32	1		1	PHTF2	7	77580942	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1468831	77580942	81557721	157	5361										
LRWD1	222229	genome.wustl.edu	37	chr7	102108823	102108823	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttcgagccggcctgggaggaGggtacatggtggcgggcagg	21	8	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:102108823G>C	ENST00000292616.5	+	7	1070	c.918G>C	c.(916-918)gaG>gaC	p.E306D	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	306					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTGGGAGGAGGGTACATGGT	0.657																																																	0													16	18	18					7																	102108823		2199	4290	6489	SO:0001630	splice_region_variant	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.919+1G>C	7.37:g.102108823G>C			A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E306D	ENST00000292616.5	37	c.918	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.119511	0.01785	.	.	ENSG00000161036	ENST00000292616	T	0.61627	0.09	5.04	2.06	0.26882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.648004	0.17135	N	0.185663	T	0.29491	0.0735	N	0.10874	0.06	0.28364	N	0.920315	B	0.16166	0.016	B	0.10450	0.005	T	0.16305	-1.0407	10	0.11794	T	0.64	-1.1101	4.8886	0.13715	0.2029:0.3737:0.4234:0.0	.	306	Q9UFC0	LRWD1_HUMAN	D	306	ENSP00000292616:E306D	ENSP00000292616:E306D	E	+	3	2	LRWD1	101895828	1.000000	0.71417	0.983000	0.44433	0.097000	0.18754	0.302000	0.19192	0.688000	0.31529	0.561000	0.74099	GAG	LRWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.657	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	G	NM_152892	Missense_Mutation	102108823	1	no_errors	ENST00000292616	ensembl	human	known	70_37	missense	SNP	0.922	C	C	102108823	G	C	102108823	5	2	38	1	0	0	0	0	0	0	1	0	9070	1014	35	4	944	4	LRWD1	7	102108823	Splice_Site	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	24527881	102108823	57029840	158	5362										
CDHR3	222256	genome.wustl.edu	37	chr7	105672949	105672949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccaccagggagctgccccaCgcagagtcactgctggggaa	14	14	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:105672949C>T	ENST00000317716.9	+	19	2544	c.2464C>T	c.(2464-2466)Cgc>Tgc	p.R822C	CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.R822C|CDHR3_ENST00000478080.1_Missense_Mutation_p.R734C	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	822					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCTGCCCCACGCAGAGTCAC	0.527																																																	0													65	67	67					7																	105672949		2026	4195	6221	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2464C>T	7.37:g.105672949C>T	ENSP00000325954:p.Arg822Cys		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R822C	ENST00000317716.9	37	c.2464	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773982	0.16051	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.57436	0.47;0.47;0.4	4.6	-1.21	0.09524	.	1.497470	0.04003	N	0.296753	T	0.28067	0.0692	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.09930	-1.0652	9	.	.	.	.	3.5266	0.07761	0.4233:0.3807:0.0978:0.0982	.	809;822	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	C	822;822;734	ENSP00000439766:R822C;ENSP00000325954:R822C;ENSP00000417771:R734C	.	R	+	1	0	CDHR3	105460185	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.060000	0.11712	-0.042000	0.13535	-0.940000	0.02684	CGC	CDHR3	-	NULL		0.527	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	C	NM_152750		105672949	1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	0.000	T	T	105672949	C	T	105672949	3	4	38	1	0	0	0	0	1	0	0	0	3125	536	19	2	2538	2	CDHR3	7	105672949	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3564126	105672949	53465714	159	5363										
FOXP2	93986	genome.wustl.edu	37	chr7	114329979	114329979	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctttatctgaagatctggaaTgagaactgacttgtgaaacc	9	7	2	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:114329979T>A	ENST00000393494.2	+	17	2425	c.2146T>A	c.(2146-2148)Tga>Aga	p.*716R	FOXP2_ENST00000393491.3_Nonstop_Mutation_p.*531R|FOXP2_ENST00000350908.4_Nonstop_Mutation_p.*716R|FOXP2_ENST00000403559.4_Nonstop_Mutation_p.*733R|FOXP2_ENST00000408937.3_Nonstop_Mutation_p.*741R|FOXP2_ENST00000393489.3_Nonstop_Mutation_p.*624R|FOXP2_ENST00000393498.2_Nonstop_Mutation_p.*695R			O15409	FOXP2_HUMAN	forkhead box P2	0					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGATCTGGAATGAGAACTGAC	0.403																																																	0													121	115	117					7																	114329979		2203	4300	6503	SO:0001578	stop_lost	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.2146T>A	7.37:g.114329979T>A	ENSP00000377132:p.*716Argext*9		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonstop_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.*741R	ENST00000393494.2	37	c.2221	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501771	0.85176	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	.	.	.	R	716;741;733;716;693;624;531	.	.	X	+	1	0	FOXP2	114117215	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.284000	0.76573	0.528000	0.53228	TGA	FOXP2	-	NULL		0.403	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	T	NM_014491		114329979	1	no_errors	ENST00000408937	ensembl	human	known	70_37	nonstop	SNP	1.000	A	A	114329979	T	A	114329979	4	1	38	1	0	0	0	0	0	0	0	0	6045	1477	51	5	2375	5	FOXP2	7	114329979	Nonstop_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	8657030	114329979	44808684	160	5364										
IRF5	3663	genome.wustl.edu	37	chr7	128587476	128587476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tccccctggcaaccctgctgGcttcagggagcttctctctg	10	16	3	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:128587476G>A	ENST00000402030.2	+	6	698	c.626G>A	c.(625-627)gGc>gAc	p.G209D	IRF5_ENST00000249375.4_Missense_Mutation_p.G209D|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000473745.1_Missense_Mutation_p.G209D|IRF5_ENST00000357234.5_Missense_Mutation_p.G225D	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	209					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AACCCTGCTGGCTTCAGGGAG	0.711																																																	0													9	11	10					7																	128587476		2168	4244	6412	SO:0001583	missense	3663				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.626G>A	7.37:g.128587476G>A	ENSP00000385352:p.Gly209Asp		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.G225D	ENST00000402030.2	37	c.674	CCDS5808.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.597|5.597	0.294873|0.294873	0.10622|0.10622	.|.	.|.	ENSG00000128604|ENSG00000128604	ENST00000430204|ENST00000357234;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	.|D;D;D;D	.|0.97328	.|-4.34;-4.32;-4.32;-4.32	5.17|5.17	-1.76|-1.76	0.08006|0.08006	.|.	.|.	.|.	.|.	.|.	D|D	0.90096|0.90096	0.6906|0.6906	N|N	0.17474|0.17474	0.49|0.49	0.21290|0.21290	N|N	0.999735|0.999735	B|B;B	0.17038|0.02656	0.02|0.0;0.0	B|B;B	0.12156|0.09377	0.007|0.001;0.004	T|T	0.80303|0.80303	-0.1439|-0.1439	8|9	0.52906|0.12103	T|T	0.07|0.63	-12.5968|-12.5968	6.4092|6.4092	0.21682|0.21682	0.2456:0.4051:0.3493:0.0|0.2456:0.4051:0.3493:0.0	.|.	198|209;225	E9PC81|Q13568;Q13568-2	.|IRF5_HUMAN;.	T|D	198|225;209;209;209;199	.|ENSP00000349770:G225D;ENSP00000385352:G209D;ENSP00000249375:G209D;ENSP00000419149:G209D	ENSP00000409106:A198T|ENSP00000249375:G209D	A|G	+|+	1|2	0|0	IRF5|IRF5	128374712|128374712	0.018000|0.018000	0.18449|0.18449	0.134000|0.134000	0.22075|0.22075	0.196000|0.196000	0.23810|0.23810	0.031000|0.031000	0.13710|0.13710	-0.215000|-0.215000	0.10063|0.10063	0.561000|0.561000	0.74099|0.74099	GCT|GGC	IRF5	-	NULL		0.711	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	G	NM_001098627		128587476	1	no_errors	ENST00000357234	ensembl	human	known	70_37	missense	SNP	0.148	A	A	128587476	G	A	128587476	3	1	38	1	0	0	0	0	1	0	0	0	7853	1203	42	4	692	4	IRF5	7	128587476	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	14257497	128587476	30551187	161	5365										
MEST	4232	genome.wustl.edu	37	chr7	130142525	130142525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaggaagaagttcagaaggCgctgggtgggagctcttgcc	17	7	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:130142525C>T	ENST00000223215.4	+	10	1011	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	MEST_ENST00000341441.5_Missense_Mutation_p.R255C|MEST_ENST00000378576.4_Missense_Mutation_p.R221C|MEST_ENST00000393187.1_Missense_Mutation_p.R255C|MEST_ENST00000437945.1_Missense_Mutation_p.R264C|MEST_ENST00000416162.2_Missense_Mutation_p.R221C|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	264					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GTTCAGAAGGCGCTGGGTGGG	0.428																																					Colon(126;2182 2305 6517 35181)												0													91	91	91					7																	130142525		2203	4300	6503	SO:0001583	missense	4232				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.790C>T	7.37:g.130142525C>T	ENSP00000223215:p.Arg264Cys		B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like	p.R264C	ENST00000223215.4	37	c.790	CCDS5822.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.492348	0.96339	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000393187;ENST00000223215;ENST00000437945	T;T;T;T;T;T;T	0.60548	3.71;0.18;3.71;3.71;3.71;3.71;3.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	M	0.85777	2.775	0.80722	D	1	D;B;B;B	0.67145	0.996;0.26;0.26;0.257	D;B;B;B	0.63283	0.913;0.057;0.057;0.037	T	0.79943	-0.1590	10	0.66056	D	0.02	-10.0627	17.8207	0.88649	0.0:1.0:0.0:0.0	.	250;264;264;221	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	C	255;221;221;221;255;264;264	ENSP00000342749:R255C;ENSP00000409505:R221C;ENSP00000408933:R221C;ENSP00000367839:R221C;ENSP00000376884:R255C;ENSP00000223215:R264C;ENSP00000401657:R264C	ENSP00000223215:R264C	R	+	1	0	MEST	129929761	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.676000	0.61627	2.890000	0.99128	0.655000	0.94253	CGC	MEST	-	pfam_AB_hydrolase_1		0.428	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEST	HGNC	protein_coding	OTTHUMT00000345183.2	C	NM_002402		130142525	1	no_errors	ENST00000223215	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130142525	C	T	130142525	3	4	38	1	0	0	0	0	1	0	0	0	9507	768	27	2	828	2	MEST	7	130142525	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1555049	130142525	28996138	162	5366										
JHDM1D	80853	genome.wustl.edu	37	chr7	139797431	139797431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctgagttctgatttcacacGtgtaaaaaaccctgaaaaag	7	9	2	3	rs6950119	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:139797431G>T	ENST00000397560.2	-	15	2027	c.1930C>A	c.(1930-1932)Cgt>Agt	p.R644S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R644S|Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		644			R -> S (in dbSNP:rs6950119). {ECO:0000269|PubMed:11214970}.		histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R644S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GATTTCACACGTGTAAAAAAC	0.433													G|||	1640	0.327476	0.4039	0.2767	5008	,	,		20930	0.245		0.334	False		,,,				2504	0.3384																1	Substitution - Missense(1)	lung(1)						G	SER/ARG	1415,2283		266,883,700	67	64	65		1930	3.2	1	7	dbSNP_116	65	2782,5404		475,1832,1786	yes	missense	JHDM1D	NM_030647.1	110	741,2715,2486	TT,TG,GG		33.9849,38.2639,35.3164	benign	644/942	139797431	4197,7687	1849	4093	5942	SO:0001583	missense	80853																														ENST00000397560.2:c.1930C>A	7.37:g.139797431G>T	ENSP00000380692:p.Arg644Ser		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.R644S	ENST00000397560.2	37	c.1930	CCDS43658.1	7	664	0.304029304029304	188	0.3821138211382114	103	0.2845303867403315	137	0.2395104895104895	236	0.3113456464379947	G	4.224	0.040418	0.08148	0.382639	0.339849	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.12465	2.92;2.68	5.53	3.18	0.36537	.	0.323397	0.40469	N	0.001093	T	0.00012	0.0000	N	0.00146	-1.995	0.34970	P	0.24697000000000002	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	9	0.20519	T	0.43	-3.5099	8.5295	0.33326	0.1204:0.0:0.1557:0.7239	rs6950119;rs52801179;rs60741643;rs6950119	644	Q6ZMT4	KDM7_HUMAN	S	644	ENSP00000380692:R644S;ENSP00000006967:R644S	ENSP00000006967:R644S	R	-	1	0	JHDM1D	139443900	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.472000	0.45136	0.399000	0.25367	-0.237000	0.12165	CGT	JHDM1D	-	NULL		0.433	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	G			139797431	-1	no_errors	ENST00000397560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139797431	G	T	139797431	3	4	38	1	0	0	0	0	1	0	0	0	7968	1145	40	2	919	2	JHDM1D	7	139797431	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9654906	139797431	19341232	163	5367										
MRPS33	51650	genome.wustl.edu	37	chr7	140710384	140710384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggtgacttcaccaaatagcCgggcactgagacgagacatg	12	10	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr7:140710384C>T	ENST00000393008.3	-	2	205	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	MRPS33_ENST00000324787.5_Missense_Mutation_p.R17Q|MRPS33_ENST00000496958.1_Missense_Mutation_p.R17Q|MRPS33_ENST00000469351.1_Missense_Mutation_p.R17Q|MRPS33_ENST00000467334.1_Missense_Mutation_p.R7Q|MRPS33_ENST00000472343.1_5'Flank	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	17					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					ACCAAATAGCCGGGCACTGAG	0.438																																																	0													136	127	130					7																	140710384		2203	4300	6503	SO:0001583	missense	51650			AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"Mitochondrial ribosomal proteins / small subunits"	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.50G>A	7.37:g.140710384C>T	ENSP00000376732:p.Arg17Gln			Missense_Mutation	SNP	pfam_Ribosomal_S27/S33_mit	p.R17Q	ENST00000393008.3	37	c.50	CCDS5864.1	7	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577076	0.65878	.	.	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351;ENST00000467334	.	.	.	5.33	4.45	0.53987	.	0.113858	0.64402	D	0.000009	T	0.39332	0.1074	L	0.42744	1.35	0.53688	D	0.999977	P	0.46277	0.875	B	0.33960	0.173	T	0.38200	-0.9672	9	0.51188	T	0.08	-26.746	11.3874	0.49793	0.0:0.8408:0.0:0.1592	.	17	Q9Y291	RT33_HUMAN	Q	17;17;17;17;17;7	.	ENSP00000320567:R17Q	R	-	2	0	MRPS33	140356853	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.838000	0.55828	1.391000	0.46566	0.591000	0.81541	CGG	MRPS33	-	pfam_Ribosomal_S27/S33_mit		0.438	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS33	HGNC	protein_coding	OTTHUMT00000348878.1	C	NM_053035		140710384	-1	no_errors	ENST00000324787	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140710384	C	T	140710384	3	4	38	1	0	0	0	0	1	0	0	0	9865	652	23	2	278	2	MRPS33	7	140710384	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	912953	140710384	18428279	164	5368										
DLGAP2	9228	genome.wustl.edu	37	chr8	1616746	1616746	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgcccagcgccacctgccaGagagccagagcagctctgtg	12	16	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:1616746G>C	ENST00000421627.2	+	6	1956	c.1822G>C	c.(1822-1824)Gag>Cag	p.E608Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	687					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCTGCCAGAGAGCCAGAG	0.652																																																	0													14	19	17					8																	1616746		2097	4202	6299	SO:0001583	missense	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1822G>C	8.37:g.1616746G>C	ENSP00000400258:p.Glu608Gln		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.E608Q	ENST00000421627.2	37	c.1822	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.184|5.184	0.219437|0.219437	0.09863|0.09863	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.12039|.	2.72|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	1.194990|.	0.05640|.	N|.	0.583167|.	T|T	0.53738|0.53738	0.1815|0.1815	L|L	0.42245|0.42245	1.32|1.32	0.21220|0.21220	N|N	0.99976|0.99976	B;B|.	0.25772|.	0.006;0.134|.	B;B|.	0.25405|.	0.012;0.06|.	T|T	0.48198|0.48198	-0.9056|-0.9056	10|5	0.18276|.	T|.	0.48|.	-4.8339|-4.8339	19.4384|19.4384	0.94807|0.94807	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	687;687|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	Q|H	653;608|624	ENSP00000400258:E608Q|.	ENSP00000348366:E653Q|.	E|Q	+|+	1|3	0|2	DLGAP2|DLGAP2	1604153|1604153	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.002000|0.002000	0.02628|0.02628	6.751000|6.751000	0.74893|0.74893	2.589000|2.589000	0.87451|0.87451	0.650000|0.650000	0.86243|0.86243	GAG|CAG	DLGAP2	-	NULL		0.652	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	G	NM_004745		1616746	1	no_errors	ENST00000421627	ensembl	human	known	70_37	missense	SNP	0.477	C	C	1616746	G	C	1616746	3	2	38	1	0	0	0	0	1	0	0	0	4570	943	33	1	1840	1	DLGAP2	8	1616746	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		1616746	144747276	165	5369										
USP17L2	377630	genome.wustl.edu	37	chr8	11995785	11995785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagtgaacatgagaaattcaTgggcatcttcctgcttgcct	9	10	2	2	rs202050503	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:11995785T>A	ENST00000333796.3	-	1	801	c.485A>T	c.(484-486)cAt>cTt	p.H162L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	162	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GAGAAATTCATGGGCATCTTC	0.532													T|||	307	0.0613019	0.0469	0.0677	5008	,	,		23378	0.001		0.0974	False		,,,				2504	0.1012																0													6	7	7					8																	11995785		951	2134	3085	SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.485A>T	8.37:g.11995785T>A	ENSP00000333329:p.His162Leu			Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.H162L	ENST00000333796.3	37	c.485	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782069	0.49891	.	.	ENSG00000223443	ENST00000333796	T	0.06142	3.34	0.745	0.745	0.18359	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.22859	0.0552	M	0.90369	3.11	0.28205	P	0.9271922	D	0.76494	0.999	D	0.83275	0.996	T	0.16129	-1.0413	9	0.87932	D	0	.	3.8607	0.08994	0.0:0.0:0.0:1.0	.	162	Q6R6M4	U17L2_HUMAN	L	162	ENSP00000333329:H162L	ENSP00000333329:H162L	H	-	2	0	USP17L2	12033194	1.000000	0.71417	0.411000	0.26484	0.226000	0.24999	2.084000	0.41625	0.611000	0.30052	0.386000	0.25728	CAT	USP17L2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.532	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	T	NM_201402		11995785	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11995785	T	A	11995785	3	1	38	1	0	0	0	0	1	0	0	0	17079	1464	51	5	1111	5	USP17L2	8	11995785	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	10379039	11995785	134368237	166	5370										
NKX3-1	4824	genome.wustl.edu	37	chr8	23538902	23538902	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaggagagctgctttcgcttAgtcttatagcgtctgttctg	12	8	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:23538902A>G	ENST00000380871.4	-	2	574	c.537T>C	c.(535-537)acT>acC	p.T179T	NKX3-1_ENST00000523261.1_Silent_p.T104T	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	179					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GCTTTCGCTTAGTCTTATAGC	0.587																																																	0													161	158	159					8																	23538902		2203	4300	6503	SO:0001819	synonymous_variant	4824				CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.537T>C	8.37:g.23538902A>G			O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.T179	ENST00000380871.4	37	c.537	CCDS6042.1	8																																																																																			NKX3-1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.587	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX3-1	HGNC	protein_coding	OTTHUMT00000215141.2	A			23538902	-1	no_errors	ENST00000380871	ensembl	human	known	70_37	silent	SNP	1.000	G	G	23538902	A	G	23538902	2	3	38	1	0	0	0	0	0	0	0	1	10479	407	15	5		5	NKX3-1	8	23538902	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	11543117	23538902	122825120	167	5371										
CHRNA2	1135	genome.wustl.edu	37	chr8	27327357	27327357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgggcaccgggcgcgcccagCggttgtagccccggaagagg	18	13	0	1	rs201922955		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:27327357C>T	ENST00000520933.2	-	2	368	c.215G>A	c.(214-216)cGc>cAc	p.R72H	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R72H|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R72H			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	72					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GCGCGCCCAGCGGTTGTAGCC	0.632																																																	0													99	95	97					8																	27327357		2203	4300	6503	SO:0001583	missense	1135			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.215G>A	8.37:g.27327357C>T	ENSP00000429616:p.Arg72His		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R72H	ENST00000520933.2	37	c.215	CCDS6059.1	8	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565005	0.65651	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.108662	0.64402	D	0.000006	T	0.61274	0.2334	L	0.45744	1.44	0.43003	D	0.99452	P;P	0.51653	0.947;0.947	P;B	0.45881	0.496;0.393	T	0.67933	-0.5542	10	0.87932	D	0	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	72;72	B4DK19;Q15822	.;ACHA2_HUMAN	H	72	ENSP00000385026:R72H;ENSP00000429616:R72H;ENSP00000240132:R72H;ENSP00000430422:R72H;ENSP00000430856:R72H	ENSP00000240132:R72H	R	-	2	0	CHRNA2	27383274	0.982000	0.34865	1.000000	0.80357	0.996000	0.88848	1.445000	0.35079	2.653000	0.90120	0.561000	0.74099	CGC	CHRNA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.632	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA2	HGNC	protein_coding	OTTHUMT00000376125.4	C			27327357	-1	no_errors	ENST00000407991	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27327357	C	T	27327357	3	4	38	1	0	0	0	0	1	0	0	0	3388	768	27	2	1394	2	CHRNA2	8	27327357	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3788455	27327357	119036665	168	5372										
EXTL3	2137	genome.wustl.edu	37	chr8	28575450	28575450	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctttgaccctgtgttgccctCagaggccaaattcttgggct	10	12	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:28575450C>T	ENST00000220562.4	+	3	2776	c.1874C>T	c.(1873-1875)tCa>tTa	p.S625L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.S241L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	625					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GTGTTGCCCTCAGAGGCCAAA	0.542																																																	0													91	89	89					8																	28575450		2203	4300	6503	SO:0001583	missense	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1874C>T	8.37:g.28575450C>T	ENSP00000220562:p.Ser625Leu		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.S625L	ENST00000220562.4	37	c.1874	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501081	0.85176	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96685	-3.53;-4.09	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.97561	1.0098	10	0.54805	T	0.06	-14.152	20.5948	0.99439	0.0:1.0:0.0:0.0	.	625	O43909	EXTL3_HUMAN	L	241;625	ENSP00000428691:S241L;ENSP00000220562:S625L	ENSP00000220562:S625L	S	+	2	0	EXTL3	28631369	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	TCA	EXTL3	-	NULL		0.542	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	C	NM_001440		28575450	1	no_errors	ENST00000220562	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28575450	C	T	28575450	3	4	38	1	0	0	0	0	1	0	0	0	5339	838	29	1	1876	1	EXTL3	8	28575450	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1248093	28575450	117788572	169	5373										
PRKDC	5591	genome.wustl.edu	37	chr8	48776016	48776016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atacacgagccatggaaaacTtgattaatttttgattcctt	6	7	0	2	rs201140159		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:48776016T>C	ENST00000314191.2	-	43	5747	c.5691A>G	c.(5689-5691)caA>caG	p.Q1897Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.Q1897Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1898					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CATGGAAAACTTGATTAATTT	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								T	,	0,3690		0,0,1845	134	131	132		5693,5693	2.3	0.9	8		132	4,8176		0,4,4086	yes	coding-synonymous,coding-synonymous	PRKDC	NM_001081640.1,NM_006904.6	,	0,4,5931	CC,CT,TT		0.0489,0.0,0.0337	,	1898/4098,1898/4129	48776016	4,11866	1845	4090	5935	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5691A>G	8.37:g.48776016T>C			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1897	ENST00000314191.2	37	c.5691		8																																																																																			PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold		0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		T	NM_001081640		48776016	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	1.000	C	C	48776016	T	C	48776016	2	2	38	1	0	0	0	0	0	0	0	1	12548	1606	56	5		5	PRKDC	8	48776016	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	20200566	48776016	97588006	170	5374										
C8orf46	254778	genome.wustl.edu	37	chr8	67428153	67428153	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gacatctcaagaagatgactGaagagtatccagcccttccc	8	12	1	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:67428153G>A	ENST00000305454.3	+	6	907	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C8orf46_ENST00000522977.1_Silent_p.*135*|C8orf46_ENST00000521495.1_Silent_p.*123*	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	156										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAAGATGACTGAAGAGTATCC	0.532																																																	0													84	78	80					8																	67428153		2203	4300	6503	SO:0001583	missense	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.466G>A	8.37:g.67428153G>A	ENSP00000302260:p.Glu156Lys		B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.E156K	ENST00000305454.3	37	c.466	CCDS6191.2	8	.	.	.	.	.	.	.	.	.	.	G	31	5.058609	0.93846	.	.	ENSG00000169085	ENST00000305454	.	.	.	5.13	5.13	0.70059	.	0.103317	0.42420	D	0.000717	T	0.59059	0.2166	L	0.27053	0.805	0.80722	D	1	D	0.56035	0.974	P	0.54499	0.754	T	0.64529	-0.6386	9	0.87932	D	0	-1.0253	16.3656	0.83319	0.0:0.0:1.0:0.0	.	156	Q8TAG6	CH046_HUMAN	K	156	.	ENSP00000302260:E156K	E	+	1	0	C8orf46	67590707	1.000000	0.71417	0.914000	0.36105	0.943000	0.58893	5.833000	0.69349	2.385000	0.81259	0.563000	0.77884	GAA	C8orf46	-	NULL		0.532	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	G	NM_152765		67428153	1	no_errors	ENST00000305454	ensembl	human	known	70_37	missense	SNP	0.988	A	A	67428153	G	A	67428153	3	1	38	1	0	0	0	0	1	0	0	0	2436	1291	45	1	488	1	C8orf46	8	67428153	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	18652137	67428153	78935869	171	5375										
C8orf84	157869	genome.wustl.edu	37	chr8	73982179	73982179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccagttttccagagcacagtGaggagtcaaggactctgtct	11	10	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:73982179G>A	ENST00000297354.6	-	4	742	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	180					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										AGAGCACAGTGAGGAGTCAAG	0.463																																																	0													102	100	100					8																	73982179		1987	4175	6162	SO:0001583	missense	157869				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.538C>T	8.37:g.73982179G>A	ENSP00000297354:p.His180Tyr		A8KAA5|Q96J64	Missense_Mutation	SNP	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt	p.H180Y	ENST00000297354.6	37	c.538	CCDS43747.2	8	.	.	.	.	.	.	.	.	.	.	G	6.859	0.527874	0.13127	.	.	ENSG00000164764	ENST00000297354	T	0.21734	1.99	5.82	4.76	0.60689	.	0.532223	0.21133	N	0.079603	T	0.09379	0.0231	N	0.16743	0.435	0.30153	N	0.802893	B	0.06786	0.001	B	0.04013	0.001	T	0.33343	-0.9872	10	0.02654	T	1	-10.4336	6.2302	0.20730	0.137:0.1943:0.6687:0.0	.	180	Q8IVN8	RPESP_HUMAN	Y	180	ENSP00000297354:H180Y	ENSP00000297354:H180Y	H	-	1	0	C8orf84	74144733	1.000000	0.71417	0.968000	0.41197	0.848000	0.48234	3.928000	0.56506	2.767000	0.95098	0.655000	0.94253	CAC	SBSPON	-	NULL		0.463	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBSPON	HGNC	protein_coding	OTTHUMT00000347584.2	G	NM_153225		73982179	-1	no_errors	ENST00000297354	ensembl	human	known	70_37	missense	SNP	0.856	A	A	73982179	G	A	73982179	3	1	38	1	0	0	0	0	1	0	0	0	2445	1290	45	1	264	1	C8orf84	8	73982179	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6554026	73982179	72381843	172	5376										
MMP16	4325	genome.wustl.edu	37	chr8	89053782	89053782	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acagtgtaaaccaatacaagGaggcataaggccaagatgca	10	8	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:89053782G>A	ENST00000286614.6	-	10	2012	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	577					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CCAATACAAGGAGGCATAAGG	0.478																																																	0													244	197	213					8																	89053782		2203	4300	6503	SO:0001819	synonymous_variant	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1731C>T	8.37:g.89053782G>A			B2RAN7|Q14824|Q52H48	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.L577	ENST00000286614.6	37	c.1731	CCDS6246.1	8																																																																																			MMP16	-	pfam_Pept_M10A_metallopeptidase_C		0.478	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	G	NM_005941		89053782	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89053782	G	A	89053782	2	1	38	1	0	0	0	0	0	0	0	1	9678	1161	41	1		1	MMP16	8	89053782	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	15071603	89053782	57310240	173	5377										
MATN2	4147	genome.wustl.edu	37	chr8	99006749	99006749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctaatcacggatgtcagcacGagtgtgttaacacagatgat	10	8	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:99006749G>A	ENST00000520016.1	+	6	1247	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	MATN2_ENST00000524308.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.E375K|MATN2_ENST00000254898.5_Missense_Mutation_p.E375K|MATN2_ENST00000522025.2_Missense_Mutation_p.E91K			O00339	MATN2_HUMAN	matrilin 2	375	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ATGTCAGCACGAGTGTGTTAA	0.423																																																	0													173	170	171					8																	99006749		1949	4141	6090	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1123G>A	8.37:g.99006749G>A	ENSP00000430487:p.Glu375Lys		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.E375K	ENST00000520016.1	37	c.1123	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.805771|2.805771	0.50421|0.50421	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000522025;ENST00000520016;ENST00000519585;ENST00000522270|ENST00000518154;ENST00000521041	D;D;D;D;D;D|.	0.96265|.	-3.96;-3.96;-2.23;-3.96;-2.23;-3.96|.	5.73|5.73	5.73|5.73	0.89815|0.89815	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.47948|0.47948	0.1473|0.1473	N|N	0.11698|0.11698	0.16|0.16	0.48511|0.48511	D|D	0.999665|0.999665	D;D;D;D|.	0.76494|.	0.994;0.983;0.996;0.999|.	P;P;P;D|.	0.63597|.	0.849;0.652;0.893;0.916|.	T|T	0.41858|0.41858	-0.9485|-0.9485	10|5	0.16896|.	T|.	0.51|.	-26.3085|-26.3085	16.8302|16.8302	0.85942|0.85942	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	375;375;375;375|.	E9PF03;O00339-2;O00339;Q8N2G3|.	.;.;MATN2_HUMAN;.|.	K|Q	375;375;91;375;91;72|157;129	ENSP00000429977:E375K;ENSP00000254898:E375K;ENSP00000429010:E91K;ENSP00000430487:E375K;ENSP00000429042:E91K;ENSP00000429825:E72K|.	ENSP00000254898:E375K|.	E|R	+|+	1|2	0|0	MATN2|MATN2	99075925|99075925	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.698000|0.698000	0.40448|0.40448	5.024000|5.024000	0.64090|0.64090	2.708000|2.708000	0.92522|0.92522	0.467000|0.467000	0.42956|0.42956	GAG|CGA	MATN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.423	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	G			99006749	1	no_errors	ENST00000254898	ensembl	human	known	70_37	missense	SNP	0.995	A	A	99006749	G	A	99006749	3	1	38	1	0	0	0	0	1	0	0	0	9357	1059	37	1	1145	1	MATN2	8	99006749	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9952967	99006749	47357273	174	5378										
VPS13B	157680	genome.wustl.edu	37	chr8	100833669	100833669	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggatgaagaagcgtttgttGatactgaaataagacttggt	12	3	0	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:100833669G>A	ENST00000358544.2	+	50	9328	c.9217G>A	c.(9217-9219)Gat>Aat	p.D3073N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D3048N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3073					protein transport (GO:0015031)			p.D3073H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCGTTTGTTGATACTGAAAT	0.428																																					Colon(161;2205 2542 7338 31318)												1	Substitution - Missense(1)	prostate(1)											270	249	256					8																	100833669		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9217G>A	8.37:g.100833669G>A	ENSP00000351346:p.Asp3073Asn		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.D3073N	ENST00000358544.2	37	c.9217	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909493	0.52439	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.78126	-1.15;-1.15	5.76	4.88	0.63580	.	0.348284	0.30879	N	0.008690	T	0.68933	0.3055	N	0.24115	0.695	0.80722	D	1	B;B	0.24258	0.078;0.1	B;B	0.27380	0.079;0.036	T	0.65869	-0.6063	10	0.51188	T	0.08	.	16.8419	0.85971	0.0:0.1285:0.8715:0.0	.	3048;3073	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	3048;3073	ENSP00000349685:D3048N;ENSP00000351346:D3073N	ENSP00000349685:D3048N	D	+	1	0	VPS13B	100902845	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.603000	0.61105	1.417000	0.47077	0.655000	0.94253	GAT	VPS13B	-	NULL		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100833669	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100833669	G	A	100833669	3	1	38	1	0	0	0	0	1	0	0	0	17221	1290	45	1	9605	1	VPS13B	8	100833669	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1826920	100833669	45530353	175	5379										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110460419	110460419	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggatccaactttggctttGagatcttggaaatctccgtg	10	9	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:110460419G>C	ENST00000378402.5	+	39	5928	c.5824G>C	c.(5824-5826)Gag>Cag	p.E1942Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1942	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTGGCTTTGAGATCTTGGA	0.378										HNSCC(38;0.096)																																							0													62	61	61					8																	110460419		1930	4143	6073	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5824G>C	8.37:g.110460419G>C	ENSP00000367655:p.Glu1942Gln		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.E1942Q	ENST00000378402.5	37	c.5824	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913663	0.33815	.	.	ENSG00000205038	ENST00000378402	D	0.84442	-1.85	5.43	5.43	0.79202	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.189262	0.43747	D	0.000526	T	0.77538	0.4145	N	0.08118	0	0.27817	N	0.94193	B	0.17038	0.02	B	0.34346	0.18	T	0.70927	-0.4739	10	0.49607	T	0.09	.	17.0915	0.86623	0.0:0.0:1.0:0.0	.	1942	Q86WI1	PKHL1_HUMAN	Q	1942	ENSP00000367655:E1942Q	ENSP00000367655:E1942Q	E	+	1	0	PKHD1L1	110529595	0.967000	0.33354	0.023000	0.16930	0.033000	0.12548	3.689000	0.54706	2.697000	0.92050	0.585000	0.79938	GAG	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110460419	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.770	C	C	110460419	G	C	110460419	3	2	38	1	0	0	0	0	1	0	0	0	11996	1291	45	1	5978	1	PKHD1L1	8	110460419	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9626750	110460419	35903603	176	5380										
KCNV1	27012	genome.wustl.edu	37	chr8	110980666	110980666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tagtcatagaggtggtggccCaccaccatgcacaagggaca	12	11	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:110980666C>T	ENST00000524391.1	-	4	2186	c.1154G>A	c.(1153-1155)tGg>tAg	p.W385*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.W385*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	385					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGTGGTGGCCCACCACCATGC	0.453																																																	0													98	96	97					8																	110980666		2203	4300	6503	SO:0001587	stop_gained	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1154G>A	8.37:g.110980666C>T	ENSP00000435954:p.Trp385*		Q9UHJ4	Nonsense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.W385*	ENST00000524391.1	37	c.1154	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	40	8.147969	0.98678	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	.	.	.	X	385;385;261	.	ENSP00000297404:W385X	W	-	2	0	KCNV1	111049842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.479000	0.83701	0.655000	0.94253	TGG	KCNV1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.453	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	C	NM_014379		110980666	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	110980666	C	T	110980666	4	4	38	1	0	0	0	0	0	1	0	0	8114	595	21	4	352	4	KCNV1	8	110980666	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	520247	110980666	35383356	177	5381										
CSMD3	114788	genome.wustl.edu	37	chr8	113564878	113564878	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	catgcaacgcaggttattgtCatatggaaaaggatagccag	11	7	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:113564878C>T	ENST00000297405.5	-	26	4550	c.4306G>A	c.(4306-4308)Gac>Aac	p.D1436N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1396N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1332N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1436N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1436	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTATTGTCATATGGAAAA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													86	81	83					8																	113564878		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4306G>A	8.37:g.113564878C>T	ENSP00000297405:p.Asp1436Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D1436N	ENST00000297405.5	37	c.4306	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284808	0.80803	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.74	4.74	0.60224	CUB (5);	0.000000	0.64402	D	0.000001	T	0.32704	0.0838	L	0.59912	1.85	0.42729	D	0.993704	D;D;P	0.56287	0.969;0.975;0.935	P;P;P	0.58660	0.757;0.843;0.759	T	0.02546	-1.1143	10	0.16896	T	0.51	.	18.2856	0.90113	0.0:1.0:0.0:0.0	.	1332;1436;1396	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1396;1436;776;1332;1436	ENSP00000345799:D1396N;ENSP00000297405:D1436N;ENSP00000341558:D776N;ENSP00000412263:D1332N;ENSP00000343124:D1436N	ENSP00000297405:D1436N	D	-	1	0	CSMD3	113634054	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.609000	0.82925	2.617000	0.88574	0.655000	0.94253	GAC	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113564878	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113564878	C	T	113564878	3	4	38	1	0	0	0	0	1	0	0	0	3951	826	29	1	7001	1	CSMD3	8	113564878	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2584212	113564878	32799144	178	5382										
CSMD3	114788	genome.wustl.edu	37	chr8	113668533	113668533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagaagatttggcccatcatGaacttccagaacatcataat	6	10	2	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:113668533G>A	ENST00000297405.5	-	18	3098	c.2854C>T	c.(2854-2856)Cat>Tat	p.H952Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H912Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H848Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H952Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	952	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCCATCATGAACTTCCAGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													68	74	72					8																	113668533		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2854C>T	8.37:g.113668533G>A	ENSP00000297405:p.His952Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H952Y	ENST00000297405.5	37	c.2854	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131272	0.21041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.12	5.12	0.69794	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38268	0.1034	N	0.00510	-1.415	0.44728	D	0.997727	D;D;D	0.71674	0.997;0.998;0.975	D;D;P	0.85130	0.995;0.997;0.836	T	0.50783	-0.8787	10	0.02654	T	1	.	18.9148	0.92501	0.0:0.0:1.0:0.0	.	848;952;912	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	912;952;292;848;952	ENSP00000345799:H912Y;ENSP00000297405:H952Y;ENSP00000341558:H292Y;ENSP00000412263:H848Y;ENSP00000343124:H952Y	ENSP00000297405:H952Y	H	-	1	0	CSMD3	113737709	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	7.924000	0.87555	2.537000	0.85549	0.585000	0.79938	CAT	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113668533	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113668533	G	A	113668533	3	1	38	1	0	0	0	0	1	0	0	0	3951	1290	45	1	8485	1	CSMD3	8	113668533	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	103655	113668533	32695489	179	5383										
ZHX2	22882	genome.wustl.edu	37	chr8	123966102	123966102	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gacggccagggtagcgacgaGaacgaggagtcgagcgttgt	18	8	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:123966102G>A	ENST00000314393.4	+	3	3187	c.2352G>A	c.(2350-2352)gaG>gaA	p.E784E		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	784					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTAGCGACGAGAACGAGGAGT	0.607																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0													97	88	91					8																	123966102		2203	4300	6503	SO:0001819	synonymous_variant	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2352G>A	8.37:g.123966102G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E784	ENST00000314393.4	37	c.2352	CCDS6336.1	8																																																																																			ZHX2	-	NULL		0.607	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	G	NM_014943		123966102	1	no_errors	ENST00000314393	ensembl	human	known	70_37	silent	SNP	0.967	A	A	123966102	G	A	123966102	2	1	38	1	0	0	0	0	0	0	0	1	17706	933	33	1		1	ZHX2	8	123966102	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	10297569	123966102	22397920	180	5384										
FER1L6	654463	genome.wustl.edu	37	chr8	124998374	124998374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgaagctaccatgattgacCggaagattggagataaaccc	10	8	0	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:124998374C>T	ENST00000522917.1	+	12	1683	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	FER1L6_ENST00000399018.1_Missense_Mutation_p.R493W|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	493						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CATGATTGACCGGAAGATTGG	0.353																																																	0													114	107	109					8																	124998374		1824	4075	5899	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1477C>T	8.37:g.124998374C>T	ENSP00000428280:p.Arg493Trp			Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R493W	ENST00000522917.1	37	c.1477	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029649	0.75504	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82344	-1.6;-1.6	5.46	-0.517	0.11947	.	0.000000	0.64402	U	0.000001	D	0.89801	0.6820	M	0.78456	2.415	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.90518	0.4486	10	0.72032	D	0.01	.	15.8788	0.79185	0.747:0.253:0.0:0.0	.	493	Q2WGJ9	FR1L6_HUMAN	W	493	ENSP00000428280:R493W;ENSP00000381982:R493W	ENSP00000381982:R493W	R	+	1	2	FER1L6	125067555	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.811000	0.38942	0.193000	0.20303	-0.188000	0.12872	CGG	FER1L6	-	NULL		0.353	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	C	NM_001039112		124998374	1	no_errors	ENST00000399018	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124998374	C	T	124998374	3	4	38	1	0	0	0	0	1	0	0	0	5833	643	23	2	1519	2	FER1L6	8	124998374	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1032272	124998374	21365648	181	5385										
ASAP1	50807	genome.wustl.edu	37	chr8	131128932	131128932	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atttttgcttaccagatcttCacactgggtagcttttagtc	7	9	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:131128932C>T	ENST00000518721.1	-	22	2283	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	ASAP1_ENST00000357668.1_Missense_Mutation_p.E686K	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	686					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACCAGATCTTCACACTGGGTA	0.358																																																	0													166	159	161					8																	131128932		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2056G>A	8.37:g.131128932C>T	ENSP00000429900:p.Glu686Lys		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.E686K	ENST00000518721.1	37	c.2056	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554244	0.86231	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.07021	3.23;3.23	5.65	5.65	0.86999	Ankyrin repeat-containing domain (2);	0.113720	0.56097	D	0.000024	T	0.10594	0.0259	L	0.51422	1.61	0.80722	D	1	P;P;P	0.49358	0.923;0.923;0.844	B;B;B	0.38616	0.277;0.277;0.182	T	0.10337	-1.0634	10	0.32370	T	0.25	.	18.7079	0.91645	0.0:1.0:0.0:0.0	.	686;686;689	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	K	689;686;686	ENSP00000350297:E686K;ENSP00000429900:E686K	ENSP00000344591:E689K	E	-	1	0	ASAP1	131198114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.230000	0.78097	2.668000	0.90789	0.655000	0.94253	GAA	ASAP1	-	superfamily_Ankyrin_rpt-contain_dom		0.358	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	C	NM_018482		131128932	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131128932	C	T	131128932	3	4	38	1	0	0	0	0	1	0	0	0	1011	835	29	1	1369	1	ASAP1	8	131128932	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	6130558	131128932	15235090	182	5386										
COL22A1	169044	genome.wustl.edu	37	chr8	139668160	139668160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cttagccaagagatttatgtCccctggagacagtagtgaag	11	8	0	3	rs372159699		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:139668160C>T	ENST00000303045.6	-	45	3759	c.3313G>A	c.(3313-3315)Gac>Aac	p.D1105N	COL22A1_ENST00000435777.1_Missense_Mutation_p.D1085N|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1105	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGATTTATGTCCCCTGGAGAC	0.388										HNSCC(7;0.00092)																																							0								C	ASN/ASP	0,4406		0,0,2203	205	209	207		3313	4.4	1	8		207	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL22A1	NM_152888.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1105/1627	139668160	1,13005	2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3313G>A	8.37:g.139668160C>T	ENSP00000303153:p.Asp1105Asn		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.D1105N	ENST00000303045.6	37	c.3313	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329893	0.41297	0.0	1.16E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96136	-3.38;-3.92	5.28	4.41	0.53225	.	0.000000	0.52532	D	0.000069	D	0.95598	0.8569	L	0.37561	1.115	0.42538	D	0.993064	D;D	0.71674	0.998;0.996	D;P	0.68765	0.96;0.877	D	0.95663	0.8717	10	0.62326	D	0.03	.	12.0488	0.53495	0.0:0.9153:0.0:0.0847	.	1085;1105	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	N	1105;1085;798	ENSP00000303153:D1105N;ENSP00000387655:D1085N	ENSP00000303153:D1105N	D	-	1	0	COL22A1	139737342	0.999000	0.42202	1.000000	0.80357	0.696000	0.40369	4.700000	0.61803	1.376000	0.46267	-0.140000	0.14226	GAC	COL22A1	-	NULL		0.388	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139668160	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139668160	C	T	139668160	3	4	38	1	0	0	0	0	1	0	0	0	3686	855	30	1	1651	1	COL22A1	8	139668160	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	8539228	139668160	6695862	183	5387										
TSNARE1	203062	genome.wustl.edu	37	chr8	143425329	143425329	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctgagcaaggaactcacctCtgggcggctccagactgaag	13	12	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:143425329C>G	ENST00000307180.3	-	4	860	c.743G>C	c.(742-744)aGa>aCa	p.R248T	TSNARE1_ENST00000524325.1_Missense_Mutation_p.R248T|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R248T|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	248					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAACTCACCTCTGGGCGGCTC	0.652																																																	0													19	16	17					8																	143425329		2119	4165	6284	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.743G>C	8.37:g.143425329C>G	ENSP00000303437:p.Arg248Thr		B7ZLB0|Q14D03	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R248T	ENST00000307180.3	37	c.743	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049416	0.19827	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.11385	2.78;2.78;2.78	3.91	1.99	0.26369	.	0.198821	0.23859	U	0.043870	T	0.09862	0.0242	L	0.57536	1.79	0.22701	N	0.998837	B;B;B	0.26081	0.141;0.068;0.068	B;B;B	0.15052	0.012;0.012;0.012	T	0.22556	-1.0213	10	0.56958	D	0.05	-18.0688	5.4157	0.16372	0.0:0.6755:0.2053:0.1192	.	248;248;248	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	T	248	ENSP00000428763:R248T;ENSP00000303437:R248T;ENSP00000427770:R248T	ENSP00000303437:R248T	R	-	2	0	TSNARE1	143423236	0.000000	0.05858	0.784000	0.31847	0.736000	0.42039	-0.046000	0.11983	0.208000	0.20626	0.603000	0.83216	AGA	TSNARE1	-	NULL		0.652	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	HGNC	protein_coding		C	NM_145003		143425329	-1	no_errors	ENST00000307180	ensembl	human	known	70_37	missense	SNP	0.907	G	G	143425329	C	G	143425329	3	3	38	1	0	0	0	0	1	0	0	0	16661	913	32	1	838	1	TSNARE1	8	143425329	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3757169	143425329	2938693	184	5388										
FOXH1	8928	genome.wustl.edu	37	chr8	145700624	145700624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tccctgaagaaggggaacacGgcctggacctgacggatgat	14	10	0	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:145700624G>A	ENST00000377317.4	-	2	773	c.195C>T	c.(193-195)gcC>gcT	p.A65A	FOXH1_ENST00000525197.1_Intron	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	65					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGGGGAACACGGCCTGGACCT	0.667																																																	0													36	36	36					8																	145700624		2202	4298	6500	SO:0001819	synonymous_variant	8928			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.195C>T	8.37:g.145700624G>A			D3DWM4	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A65	ENST00000377317.4	37	c.195	CCDS6428.1	8																																																																																			FOXH1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.667	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXH1	HGNC	protein_coding	OTTHUMT00000382451.1	G			145700624	-1	no_errors	ENST00000377317	ensembl	human	known	70_37	silent	SNP	0.562	A	A	145700624	G	A	145700624	2	1	38	1	0	0	0	0	0	0	0	1	6026	1103	39	2		2	FOXH1	8	145700624	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2275295	145700624	663398	185	5389										
RECQL4	9684	genome.wustl.edu	37	chr8	145742524	145742524	+	5'Flank	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctggcgtagactgtggactCttggtcgcagcccgattcag	13	12	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr8:145742524C>A	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.K88N	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACTGTGGACTCTTGGTCGCAG	0.672																																																	0													16	18	18					8																	145742524		1938	4136	6074	SO:0001631	upstream_gene_variant	9401			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742524C>A	Exception_encountered		A8K0A8|D3DWM8	RNA	SNP	-	NULL	ENST00000292524.1	37	NULL	CCDS6432.1	8																																																																																			RECQL4	-	-		0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382494.1	C	NM_014665		145742524	-1	no_errors	ENST00000428558	ensembl	human	known	70_37	rna	SNP	0.000	A	A	145742524	C	A	145742524	1	1	38	0	1	0	0	0	0	0	0	0	13232	912	32	3		3	RECQL4	8	145742524	5'Flank	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	41900	145742524	621498	186	5390										
KIAA2026	158358	genome.wustl.edu	37	chr9	5923156	5923156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgccttcttccttggagaaAgctcttttgtgctgtcatcc	8	11	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:5923156A>G	ENST00000399933.3	-	8	2839	c.2840T>C	c.(2839-2841)cTt>cCt	p.L947P	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L917P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	947										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCTTGGAGAAAGCTCTTTTGT	0.378																																																	0													197	187	190					9																	5923156		1920	4150	6070	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2840T>C	9.37:g.5923156A>G	ENSP00000382815:p.Leu947Pro		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.L947P	ENST00000399933.3	37	c.2840		9	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237765	0.58886	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.44	5.44	0.79542	.	0.184196	0.36234	N	0.002714	T	0.65207	0.2669	L	0.29908	0.895	0.58432	D	0.999997	D	0.69078	0.997	D	0.66979	0.948	T	0.69495	-0.5130	9	0.87932	D	0	-11.8357	15.4781	0.75501	1.0:0.0:0.0:0.0	.	947	Q5HYC2	K2026_HUMAN	P	947;917	.	ENSP00000370870:L917P	L	-	2	0	KIAA2026	5913156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.478000	0.66806	2.054000	0.61138	0.402000	0.26972	CTT	KIAA2026	-	NULL		0.378	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	A	NM_001017969		5923156	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	5923156	A	G	5923156	3	3	38	1	0	0	0	0	1	0	0	0	8290	72	3	5	3475	5	KIAA2026	9	5923156	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09		5923156	135290275	187	5391										
KIAA2026	158358	genome.wustl.edu	37	chr9	5988363	5988363	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	accttttttcttcttttgctCtcagctgttcttcctgtctc	4	13	5	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:5988363C>G	ENST00000399933.3	-	2	775	c.776G>C	c.(775-777)aGa>aCa	p.R259T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R259T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	259										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTCTTTTGCTCTCAGCTGTTC	0.378																																																	0													90	86	87					9																	5988363		1835	4072	5907	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.776G>C	9.37:g.5988363C>G	ENSP00000382815:p.Arg259Thr		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.R259T	ENST00000399933.3	37	c.776		9	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442474	0.43326	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.79	4.79	0.61399	.	0.104348	0.40908	U	0.000992	T	0.43743	0.1261	L	0.34521	1.04	0.34897	D	0.746129	B	0.30281	0.275	B	0.33890	0.172	T	0.59215	-0.7496	9	0.66056	D	0.02	.	11.6831	0.51470	0.0:0.9177:0.0:0.0823	.	259	Q5HYC2	K2026_HUMAN	T	259	.	ENSP00000370870:R259T	R	-	2	0	KIAA2026	5978363	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.094000	0.50227	2.381000	0.81170	0.484000	0.47621	AGA	KIAA2026	-	NULL		0.378	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		5988363	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	5988363	C	G	5988363	3	3	38	1	0	0	0	0	1	0	0	0	8290	913	32	1	5563	1	KIAA2026	9	5988363	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	65207	5988363	135225068	188	5392										
BNC2	54796	genome.wustl.edu	37	chr9	16727949	16727952	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgccctctttggctctctgTctctctgtgtctctctttct							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	TCTC	TCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:16727949_16727952delTCTC	ENST00000380672.4	-	3	230_233	c.173_176delGAGA	c.(172-177)agagacfs	p.RD58fs	BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|RP11-62F24.2_ENST00000450445.1_RNA|BNC2_ENST00000380666.2_Frame_Shift_Del_p.RD58fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		tggctctctgtctctctgtgtctc	0.49																																																	0																																										SO:0001589	frameshift_variant	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.173_176delGAGA	9.37:g.16727949_16727952delTCTC	ENSP00000370047:p.Arg58fs			Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R58fs	ENST00000380672.4	37	c.176_173	CCDS6482.2	9																																																																																			BNC2	-	NULL		0.49	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	TCTC	NM_017637		16727952	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	16727952	TCTC	-	16727949	7	5	38	1	0	1	0	1	0	0	0	0	1476	1667	58	0	3143	0	BNC2	9	16727949	Frame_Shift_Del	DEL	TCTC	TCGA-C5-A3HE-01A-21D-A22X-09	10739586	16727949	124485482	189	5393										
B4GALT1	2683	genome.wustl.edu	37	chr9	33135202	33135202	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctcacctggttgataacataGatgccatagtccagctgctg	9	11	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:33135202G>A	ENST00000379731.4	-	2	819	c.633C>T	c.(631-633)atC>atT	p.I211I	B4GALT1_ENST00000535206.1_Silent_p.I211I	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	211					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGATAACATAGATGCCATAGT	0.527																																																	0													62	58	59					9																	33135202		2203	4300	6503	SO:0001819	synonymous_variant	2683			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.633C>T	9.37:g.33135202G>A			B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.I211	ENST00000379731.4	37	c.633	CCDS6535.1	9																																																																																			B4GALT1	-	pfam_Galactosyl_T_2_met		0.527	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT1	HGNC	protein_coding	OTTHUMT00000052039.1	G	NM_001497		33135202	-1	no_errors	ENST00000379731	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33135202	G	A	33135202	2	1	38	1	0	0	0	0	0	0	0	1	1271	932	33	1		1	B4GALT1	9	33135202	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	16407253	33135202	108078229	190	5394										
TPM2	7169	genome.wustl.edu	37	chr9	35683240	35683241	+	Splice_Site	INS	-	-	G													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tctgggcatagacttcatctINSggggggggtccagggagggg					rs35401252|rs199476157|rs368128547|rs149115565	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:35683240_35683241insG	ENST00000360958.2	-	9	877		c.e9-2		TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378292.3_Intron|TPM2_ENST00000378300.5_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACTTCATCTGGGGGGGGTCC	0.55													GGGGGGG|GGGGGGGG|GGGGGGGGG|cryptic_indel	1313	0.262181	0.1505	0.2896	5008	,	,		19764	0.2917		0.3608	False		,,,				2504	0.2618																0																																										SO:0001630	splice_region_variant	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.773-2->C	9.37:g.35683248_35683248dupG			A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Splice_Site	INS	-	e9-2	ENST00000360958.2	37	c.773-3_773-2	CCDS6587.1	9																																																																																			TPM2	-	-		0.55	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	-	NM_003289	Intron	35683241	-1	no_errors	ENST00000360958	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	G	G	35683241	-	G	35683240	8	5	38	1	0	1	1	0	0	0	1	0	16437	1594	55	0	174	0	TPM2	9	35683240	Splice_Site	INS	-	TCGA-C5-A3HE-01A-21D-A22X-09	2548038	35683240	105530191	191	5395										
FAM75A3	727830	genome.wustl.edu	37	chr9	40702760	40702760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggagcctcccagtcctctcaTgagcctatggaagatgctgc	11	13	1	2	rs192661010	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:40702760T>G	ENST00000356699.5	+	4	446	c.417T>G	c.(415-417)caT>caG	p.H139Q	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	139	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGTCCTCTCATGAGCCTATGG	0.597													T|||	514	0.102636	0.0885	0.1009	5008	,	,		20141	0.003		0.2286	False		,,,				2504	0.0961																0								T	GLN/HIS	382,3416		13,356,1530	53	63	60		417	-3.7	0	9	dbSNP_134	60	1741,6417		82,1577,2420	no	missense	FAM75A3	NM_001083124.1	24	95,1933,3950	GG,GT,TT		21.341,10.0579,17.7568	possibly-damaging	139/1348	40702760	2123,9833	1899	4079	5978	SO:0001583	missense	727830					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.417T>G	9.37:g.40702760T>G	ENSP00000349132:p.His139Gln			Missense_Mutation	SNP	NULL	p.H139Q	ENST00000356699.5	37	c.417	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	T	1.786	-0.480697	0.04383	0.100579	0.21341	ENSG00000147926	ENST00000356699	T	0.03889	3.77	1.86	-3.73	0.04398	.	1.943840	0.02631	N	0.104336	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.12013	0.005	B	0.11329	0.006	T	0.45760	-0.9239	9	0.25106	T	0.35	0.3542	0.1983	0.00142	0.2674:0.2166:0.2878:0.2282	.	139	Q5VYP0	F75A3_HUMAN	Q	139	ENSP00000349132:H139Q	ENSP00000349132:H139Q	H	+	3	2	FAM75A3	40692760	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.285000	0.02791	-1.013000	0.03383	-0.836000	0.03065	CAT	SPATA31A3	-	NULL		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1	T	NM_001083124		40702760	1	no_errors	ENST00000356699	ensembl	human	known	70_37	missense	SNP	0.000	G	G	40702760	T	G	40702760	3	3	38	1	0	0	0	0	1	0	0	0	5639	1461	51	5	431	5	FAM75A3	9	40702760	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	5019520	40702760	100510671	192	5396										
TRPM3	80036	genome.wustl.edu	37	chr9	73458045	73458046	+	Splice_Site	INS	-	-	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	caacatgacgaataacacctINSaaaaaaaaaagagaagcatt					rs3833697|rs533390097	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:73458045_73458046insA	ENST00000377111.2	-	5	920		c.e5-2		TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000377097.3_Splice_Site|TRPM3_ENST00000396285.1_Splice_Site|TRPM3_ENST00000408909.2_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000377110.3_Splice_Site|TRPM3_ENST00000396292.4_Splice_Site|TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000358082.3_Splice_Site|TRPM3_ENST00000396280.5_Splice_Site	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAATAACACCTAAAAAAAAAAG	0.371																																																	0									,,,,,,,,	2873,228,1163		935,177,826,1,49,144					,,,,,,,,	4.6	0.9		dbSNP_130	42	5493,56,2699		1753,52,1935,0,4,380	no	intron,intron,intron,intron,intron,intron,intron,intron,intron	TRPM3	NM_206948.2,NM_206947.3,NM_206946.3,NM_206945.3,NM_206944.3,NM_024971.5,NM_020952.4,NM_001007471.2,NM_001007470.1	,,,,,,,,	2688,229,2761,1,53,524	A1A1,A1A2,A1R,A2A2,A2R,RR		33.402,32.622,33.1362	,,,,,,,,	,,,,,,,,		8366,284,3862				SO:0001630	splice_region_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.677-2->T	9.37:g.73458055_73458055dupA			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	INS	-	e5-2	ENST00000377111.2	37	c.683-3_683-2		9																																																																																			TRPM3	-	-		0.371	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	NM_206945	Intron	73458046	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	splice_site_ins	INS	0.995:0.010	A	A	73458046	-	A	73458045	8	5	38	1	0	1	1	0	0	0	1	0	16618	1536	53	0	4655	0	TRPM3	9	73458045	Splice_Site	INS	-	TCGA-C5-A3HE-01A-21D-A22X-09	32755285	73458045	67755386	193	5397										
TMEM2	23670	genome.wustl.edu	37	chr9	74360096	74360096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaagccgcctgctctcattgCggtattcatgggtatcaaat	10	10	3	0	rs25689	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:74360096C>T	ENST00000377044.4	-	4	1411	c.872G>A	c.(871-873)cGc>cAc	p.R291H	TMEM2_ENST00000377066.5_Missense_Mutation_p.R291H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	291			R -> H (in dbSNP:rs25689).|R -> L (in dbSNP:rs25689).|R -> P (in dbSNP:rs25689).		multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTCTCATTGCGGTATTCATG	0.483													T|||	1423	0.284145	0.3608	0.2752	5008	,	,		19539	0.1766		0.2187	False		,,,				2504	0.365																0								T	HIS/ARG,HIS/ARG	1447,2959	681.5+/-404.0	239,969,995	100	98	99		872,872	6	1	9	dbSNP_72	99	1817,6783	732.2+/-406.8	187,1443,2670	yes	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	29,29	426,2412,3665	TT,TC,CC		21.1279,32.8416,25.0961	benign,benign	291/1321,291/1384	74360096	3264,9742	2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.872G>A	9.37:g.74360096C>T	ENSP00000366243:p.Arg291His		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.R291H	ENST00000377044.4	37	c.872	CCDS6638.1	9	513	0.2348901098901099	169	0.3434959349593496	81	0.22375690607734808	102	0.17832167832167833	161	0.21240105540897097	T	10.08	1.251990	0.22880	0.328416	0.211279	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.73152	-0.72;-0.66	6.03	6.03	0.97812	.	0.486723	0.25836	N	0.027997	T	0.00012	0.0000	N	0.04508	-0.205	0.09310	P	0.999999999999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18147	-1.0346	9	0.33940	T	0.23	.	9.0014	0.36083	0.0:0.0672:0.134:0.7989	rs25689;rs3739782;rs59504885;rs25689	291;291	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	291	ENSP00000366243:R291H;ENSP00000366266:R291H	ENSP00000366243:R291H	R	-	2	0	TMEM2	73549916	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	1.925000	0.40074	1.106000	0.41623	-0.254000	0.11334	CGC	TMEM2	-	NULL		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	C	NM_013390		74360096	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	missense	SNP	0.995	T	T	74360096	C	T	74360096	3	4	38	1	0	0	0	0	1	0	0	0	16151	768	27	2	3363	2	TMEM2	9	74360096	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	902051	74360096	66853335	194	5398										
IPPK	64768	genome.wustl.edu	37	chr9	95400399	95400399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccgagccactcagcagcaccCgtgtgatcacgtgcaccagc	10	17	2	1	rs150868938		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:95400399C>T	ENST00000287996.3	-	9	1076	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	267					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.R267Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAGCAGCACCCGTGTGATCAC	0.667																																																	1	Substitution - Missense(1)	ovary(1)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43	42	43		800	1.7	0.9	9	dbSNP_134	43	0,8600		0,0,4300	no	missense	IPPK	NM_022755.5	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	267/492	95400399	1,13005	2203	4300	6503	SO:0001583	missense	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.800G>A	9.37:g.95400399C>T	ENSP00000287996:p.Arg267Gln		Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.R267Q	ENST00000287996.3	37	c.800	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111522	0.20714	2.27E-4	0.0	ENSG00000127080	ENST00000287996	T	0.29142	1.58	5.11	1.72	0.24424	.	0.536654	0.20746	N	0.086441	T	0.07413	0.0187	N	0.03608	-0.345	0.28375	N	0.919836	P	0.45768	0.866	B	0.30716	0.119	T	0.15178	-1.0446	10	0.15066	T	0.55	-17.6797	3.2612	0.06849	0.4503:0.3445:0.115:0.0901	.	267	Q9H8X2	IPPK_HUMAN	Q	267	ENSP00000287996:R267Q	ENSP00000287996:R267Q	R	-	2	0	IPPK	94440220	0.333000	0.24731	0.858000	0.33744	0.312000	0.27988	1.020000	0.30027	0.651000	0.30788	0.462000	0.41574	CGG	IPPK	-	pfam_Ins_P5_2-kin		0.667	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	C	NM_022755		95400399	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	missense	SNP	0.349	T	T	95400399	C	T	95400399	3	4	38	1	0	0	0	0	1	0	0	0	7821	652	23	2	695	2	IPPK	9	95400399	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	21040303	95400399	45813032	195	5399										
FGD3	89846	genome.wustl.edu	37	chr9	95797696	95797696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccctgaggagaggctggactCggggcatgtgtggaagctgc	18	9	0	2	rs201485764		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:95797696C>T	ENST00000375482.3	+	18	2499	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	FGD3_ENST00000538555.1_Missense_Mutation_p.S271L|FGD3_ENST00000337352.6_Missense_Mutation_p.S668L|FGD3_ENST00000416701.2_Missense_Mutation_p.S667L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	668	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGCTGGACTCGGGGCATGTG	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		17423	0		0	False		,,,				2504	0																0								C	LEU/SER,LEU/SER	5,4291		0,5,2143	29	38	35		2003,2003	1.4	0	9		35	0,8522		0,0,4261	yes	missense,missense	FGD3	NM_001083536.1,NM_033086.2	145,145	0,5,6404	TT,TC,CC		0.0,0.1164,0.039	benign,benign	668/726,668/726	95797696	5,12813	2148	4261	6409	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.2003C>T	9.37:g.95797696C>T	ENSP00000364631:p.Ser668Leu		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S668L	ENST00000375482.3	37	c.2003	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068912	0.07228	0.001164	0.0	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72167	-0.52;-0.52;-0.52;-0.63	4.52	1.42	0.22433	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	1.562800	0.04244	N	0.337459	T	0.45155	0.1328	N	0.03324	-0.35	0.09310	N	1	B;B	0.22414	0.069;0.004	B;B	0.09377	0.004;0.003	T	0.30031	-0.9992	10	0.27082	T	0.32	.	4.4601	0.11663	0.0:0.5645:0.1989:0.2366	.	667;668	F8W7P2;Q5JSP0	.;FGD3_HUMAN	L	668;667;668;271	ENSP00000364631:S668L;ENSP00000413833:S667L;ENSP00000336914:S668L;ENSP00000442560:S271L	ENSP00000336914:S668L	S	+	2	0	FGD3	94837517	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.088000	0.11198	0.177000	0.19895	0.561000	0.74099	TCG	FGD3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.647	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	C	NM_033086		95797696	1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.000	T	T	95797696	C	T	95797696	3	4	38	1	0	0	0	0	1	0	0	0	5852	893	31	1	2065	1	FGD3	9	95797696	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	397297	95797696	45415735	196	5400										
PTPDC1	138639	genome.wustl.edu	37	chr9	96857672	96857672	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atcctagatatggtgaaggtGatgacatttgccttacagga	11	6	0	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:96857672G>A	ENST00000375360.3	+	6	868	c.528G>A	c.(526-528)gtG>gtA	p.V176V	PTPDC1_ENST00000288976.3_Silent_p.V228V	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	176	Tyrosine-protein phosphatase.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGTGAAGGTGATGACATTTG	0.408																																																	0													225	198	207					9																	96857672		2203	4300	6503	SO:0001819	synonymous_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.528G>A	9.37:g.96857672G>A			Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.V176	ENST00000375360.3	37	c.528	CCDS6707.1	9																																																																																			PTPDC1	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase		0.408	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	G	NM_177995, NM_152422		96857672	1	no_errors	ENST00000375360	ensembl	human	known	70_37	silent	SNP	1.000	A	A	96857672	G	A	96857672	2	1	38	1	0	0	0	0	0	0	0	1	12801	1277	45	1		1	PTPDC1	9	96857672	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1059976	96857672	44355759	197	5401										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100070052	100070052	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgcgccatgcgcggcggggaGaaccggcctcctgctcgagt	16	14	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:100070052G>A	ENST00000357054.1	+	15	1367	c.432G>A	c.(430-432)gaG>gaA	p.E144E	CCDC180_ENST00000395220.1_Silent_p.E144E|CCDC180_ENST00000411667.2_Silent_p.E5E|CCDC180_ENST00000529487.1_Silent_p.E5E|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Silent_p.E5E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	144						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCGGCGGGGAGAACCGGCCTC	0.537																																																	0													110	110	110					9																	100070052		2203	4300	6503	SO:0001819	synonymous_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.432G>A	9.37:g.100070052G>A			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.E5	ENST00000357054.1	37	c.15		9																																																																																			C9orf174	-	NULL		0.537	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100070052	1	no_errors	ENST00000375202	ensembl	human	known	70_37	silent	SNP	0.000	A	A	100070052	G	A	100070052	2	1	38	1	0	0	0	0	0	0	0	1	8260	933	33	1		1	KIAA1529	9	100070052	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	3212380	100070052	41143379	198	5402										
INVS	27130	genome.wustl.edu	37	chr9	103035345	103035345	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agcatgaacagttgagaaaaGatgctgctgccaagtaagta	11	6	0	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:103035345G>C	ENST00000262457.2	+	12	1956	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	INVS_ENST00000262456.2_Missense_Mutation_p.D591H|INVS_ENST00000541287.1_Missense_Mutation_p.D495H	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	591					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.D591F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGAGAAAAGATGCTGCTGC	0.522																																																	1	Substitution - Missense(1)	ovary(1)											101	97	98					9																	103035345		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1771G>C	9.37:g.103035345G>C	ENSP00000262457:p.Asp591His		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.D591H	ENST00000262457.2	37	c.1771	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039965	0.75732	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.45668	0.89;0.89;1.01	5.28	5.28	0.74379	.	0.086938	0.85682	D	0.000000	T	0.57592	0.2064	L	0.36672	1.1	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.59343	-0.7472	10	0.66056	D	0.02	.	19.2664	0.93988	0.0:0.0:1.0:0.0	.	495;591;591	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	H	591;495;591	ENSP00000262457:D591H;ENSP00000444454:D495H;ENSP00000262456:D591H	ENSP00000262456:D591H	D	+	1	0	INVS	102075166	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.823000	0.86660	2.628000	0.89032	0.491000	0.48974	GAT	INVS	-	NULL		0.522	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	G	NM_014425		103035345	1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103035345	G	C	103035345	3	2	38	1	0	0	0	0	1	0	0	0	7807	942	33	1	1813	1	INVS	9	103035345	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2965293	103035345	38178086	199	5403										
C9orf152	401546	genome.wustl.edu	37	chr9	112969745	112969745	+	Frame_Shift_Del	DEL	T	T	-													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgggctcgcaggaactggaTgctgagtgggggccctttcc					rs201081105	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:112969745delT	ENST00000400613.4	-	1	724	c.115delA	c.(115-117)atcfs	p.I39fs	C9orf152_ENST00000473442.1_5'UTR	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	39										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAACTGGATGCTGAGTGGG	0.622													T|T|-|deletion	48	0.00958466	0	0.0086	5008	,	,		16371	0		0.0149	False		,,,				2504	0.0276																0										12,4252		0,12,2120	62	65	64			2.1	0.7	9		65	158,8096		2,154,3971	no	frameshift	C9orf152	NM_001012993.2		2,166,6091	A1A1,A1R,RR		1.9142,0.2814,1.358			112969745	170,12348	2203	4298	6501	SO:0001589	frameshift_variant	401546			BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.115delA	9.37:g.112969745delT	ENSP00000383456:p.Ile39fs		A8MWT6	Frame_Shift_Del	DEL	NULL	p.I39fs	ENST00000400613.4	37	c.115	CCDS35102.2	9																																																																																			C9orf152	-	NULL		0.622	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf152	HGNC	protein_coding	OTTHUMT00000053602.2	T	NM_001012993		112969745	-1	no_errors	ENST00000400613	ensembl	human	known	70_37	frame_shift_del	DEL	0.868	-	-	112969745	T	-	112969745	7	5	38	1	0	1	0	1	0	0	0	0	2468	1464	51	0	612	0	C9orf152	9	112969745	Frame_Shift_Del	DEL	T	TCGA-C5-A3HE-01A-21D-A22X-09	9934400	112969745	28243686	200	5404										
DAB2IP	153090	genome.wustl.edu	37	chr9	124522649	124522649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcagccctcgagcccatcctCagtgccaagaccaaggagga	11	15	1	1	rs150428926	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:124522649C>T	ENST00000408936.3	+	6	1283	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	DAB2IP_ENST00000309989.1_Silent_p.L243L|DAB2IP_ENST00000259371.2_Silent_p.L339L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	367					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCCCATCCTCAGTGCCAAGA	0.597																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	62	45	51		1017,729	2.6	1	9	dbSNP_134	51	15,8585	10.5+/-38.8	0,15,4285	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,16,6487	TT,TC,CC		0.1744,0.0227,0.123	,	339/1133,243/1066	124522649	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1101C>T	9.37:g.124522649C>T			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L367	ENST00000408936.3	37	c.1101		9																																																																																			DAB2IP	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.597	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	C	NM_032552		124522649	1	no_errors	ENST00000408936	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124522649	C	T	124522649	2	4	38	1	0	0	0	0	0	0	0	1	4224	813	29	1		1	DAB2IP	9	124522649	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	11552904	124522649	16690782	201	5405										
OR1B1	347169	genome.wustl.edu	37	chr9	125391770	125391771	+	Frame_Shift_Ins	INS	-	-	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctctcgagaacccaaggagcINSaaaaaaaccggagagtgtga					rs398102330|rs78126045|rs11421222	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:125391770_125391771insA	ENST00000304833.3	-	1	81_82	c.44_45insT	c.(43-45)ttgfs	p.L15fs	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACCCAAGGAGCAAAAAAACCGG	0.475													?|AAAAAAA|AAAAAAAA|unsure	2046	0.408546	0.3888	0.2954	5008	,	,		22113	0.3383		0.504	False		,,,				2504	0.4898																0										1831,2421		393,1045,688						-0.3	0.5		dbSNP_134	87	4104,4128		1026,2052,1038	no	frameshift	OR1B1	NM_001004450.1		1419,3097,1726	A1A1,A1R,RR		49.8542,43.0621,47.5409				5935,6549				SO:0001589	frameshift_variant	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.45dupT	9.37:g.125391777_125391777dupA	ENSP00000303151:p.Leu15fs		Q6IFN3	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L15fs	ENST00000304833.3	37	c.45_44	CCDS35126.1	9																																																																																			OR1B1	-	NULL		0.475	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2	-	NM_001004450		125391771	-1	no_errors	ENST00000304833	ensembl	human	novel	70_37	frame_shift_ins	INS	0.004:0.028	A	A	125391771	-	A	125391770	7	5	38	1	0	1	1	0	0	0	0	0	10975	709	25	0	914	0	OR1B1	9	125391770	Frame_Shift_Ins	INS	-	TCGA-C5-A3HE-01A-21D-A22X-09	869121	125391770	15821661	202	5406										
FAM102A	399665	genome.wustl.edu	37	chr9	130707744	130707744	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccctcagggccctccacggtCatgccaaggcccccagaggc	11	19	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:130707744C>T	ENST00000373095.1	-	8	1194	c.819G>A	c.(817-819)atG>atA	p.M273I	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.M131I	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	273										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CCTCCACGGTCATGCCAAGGC	0.701																																																	0													17	17	17					9																	130707744		2173	4267	6440	SO:0001583	missense	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.819G>A	9.37:g.130707744C>T	ENSP00000362187:p.Met273Ile		A2A329|Q8TEL4	Missense_Mutation	SNP	pfam_NT-C2	p.M273I	ENST00000373095.1	37	c.819	CCDS35150.1	9	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653033	0.14580	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.21543	2.0;2.0	4.89	2.02	0.26589	.	0.605189	0.19137	N	0.121793	T	0.08582	0.0213	N	0.08118	0	0.29690	N	0.841016	B	0.16396	0.017	B	0.14023	0.01	T	0.30031	-0.9992	10	0.20046	T	0.44	-8.9446	5.5138	0.16896	0.0:0.6185:0.143:0.2385	.	273	Q5T9C2	F102A_HUMAN	I	273;131	ENSP00000362187:M273I;ENSP00000362176:M131I	ENSP00000362176:M131I	M	-	3	0	FAM102A	129747565	0.994000	0.37717	0.770000	0.31555	0.513000	0.34164	0.623000	0.24447	0.131000	0.18576	0.313000	0.20887	ATG	FAM102A	-	NULL		0.701	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	C			130707744	-1	no_errors	ENST00000373095	ensembl	human	known	70_37	missense	SNP	0.879	T	T	130707744	C	T	130707744	3	4	38	1	0	0	0	0	1	0	0	0	5397	826	29	1	351	1	FAM102A	9	130707744	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5315974	130707744	10505687	203	5407										
ENTPD2	954	genome.wustl.edu	37	chr9	139946066	139946066	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcgaggcatccaacaagactCtggctggccccagaagggtt	12	12	1	2	rs200985282	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr9:139946066C>T	ENST00000355097.2	-	3	329	c.282G>A	c.(280-282)caG>caA	p.Q94Q	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Silent_p.Q94Q	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	94					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAACAAGACTCTGGCTGGCCC	0.632																																																	0													45	46	46					9																	139946066		2199	4299	6498	SO:0001819	synonymous_variant	954			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.282G>A	9.37:g.139946066C>T			O15464|Q5SPY6|Q5SPY7	Silent	SNP	pfam_GDA1_CD39_NTPase	p.Q94	ENST00000355097.2	37	c.282	CCDS7026.1	9																																																																																			ENTPD2	-	pfam_GDA1_CD39_NTPase		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	C	NM_203468		139946066	-1	no_errors	ENST00000355097	ensembl	human	known	70_37	silent	SNP	0.999	T	T	139946066	C	T	139946066	2	4	38	1	0	0	0	0	0	0	0	1	5151	912	32	1		1	ENTPD2	9	139946066	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	9238322	139946066	1267365	204	5408										
ITIH5	80760	genome.wustl.edu	37	chr10	7679252	7679252	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggcagcacctccagggatgcGatgcccgcgctctccaggat	13	15	1	0	rs369114884		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:7679252G>A	ENST00000256861.6	-	5	669	c.591C>T	c.(589-591)atC>atT	p.I197I	ITIH5_ENST00000397146.2_Silent_p.I197I|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.I197I|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	197					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCAGGGATGCGATGCCCGCGC	0.657																																																	0													74	75	75					10																	7679252		2203	4300	6503	SO:0001819	synonymous_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.591C>T	10.37:g.7679252G>A			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I197	ENST00000256861.6	37	c.591		10																																																																																			ITIH5	-	NULL		0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7679252	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	silent	SNP	0.049	A	A	7679252	G	A	7679252	2	1	38	1	0	0	0	0	0	0	0	1	7927	1048	37	1		1	ITIH5	10	7679252	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		7679252	127855495	205	5409										
PIP4K2A	5305	genome.wustl.edu	37	chr10	22839628	22839628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttccaggaagaccttcttgTtgttgtcatcaatataaatc	6	8	3	1	rs2230469	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:22839628T>C	ENST00000376573.4	-	7	980	c.752A>G	c.(751-753)aAc>aGc	p.N251S	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.N192S|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.N111S	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	251	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.		N -> S (in dbSNP:rs10828317). {ECO:0000269|PubMed:7639683}.		megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GACCTTCTTGTTGTTGTCATC	0.363											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1063	0.21226	0.0696	0.134	5008	,	,		18073	0.3839		0.3131	False		,,,				2504	0.18																0			GRCh37	CM068312	PIP4K2A	M	rs10828317	T	SER/ASN	456,3948	217.4+/-235.8	29,398,1775	180	175	177		752	6.1	1	10	dbSNP_120	177	2740,5860	437.2+/-358.5	451,1838,2011	yes	missense	PIP4K2A	NM_005028.4	46	480,2236,3786	CC,CT,TT		31.8605,10.3542,24.5771	benign	251/407	22839628	3196,9808	2202	4300	6502	SO:0001583	missense	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.752A>G	10.37:g.22839628T>C	ENSP00000365757:p.Asn251Ser	759	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.N251S	ENST00000376573.4	37	c.752	CCDS7141.1	10	564	0.25824175824175827	38	0.07723577235772358	44	0.12154696132596685	232	0.40559440559440557	250	0.32981530343007914	T	9.613	1.131741	0.21041	0.103542	0.318605	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.34275	1.37;1.37;1.37	6.07	6.07	0.98685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.042713	0.85682	D	0.000000	T	0.00012	0.0000	N	0.11673	0.155	0.09310	P	0.999999748043	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.45760	-0.9239	9	0.15066	T	0.55	-58.1863	16.6277	0.84984	0.0:0.0:0.0:1.0	rs10828317;rs52795826;rs59726485;rs10828317	111;251	B4DH09;P48426	.;PI42A_HUMAN	S	251;111;192	ENSP00000365757:N251S;ENSP00000326294:N111S;ENSP00000442098:N192S	ENSP00000326294:N111S	N	-	2	0	PIP4K2A	22879634	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.912000	0.69948	2.330000	0.79161	0.528000	0.53228	AAC	PIP4K2A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.363	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1	T	NM_005028		22839628	-1	no_errors	ENST00000376573	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22839628	T	C	22839628	3	2	38	1	0	0	0	0	1	0	0	0	11960	1725	60	5	484	5	PIP4K2A	10	22839628	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	15160376	22839628	112695119	206	5410										
FRMPD2	143162	genome.wustl.edu	37	chr10	49388901	49388901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgggcactaagctctgcaccCcagccatgtctagttcttca	8	14	4	0	rs61840030	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:49388901C>T	ENST00000374201.3	-	21	3037	c.2735G>A	c.(2734-2736)gGg>gAg	p.G912E	FRMPD2_ENST00000407470.4_Missense_Mutation_p.G880E|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G887E|FRMPD2_ENST00000463706.1_5'Flank	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	912					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCTCTGCACCCCAGCCATGTC	0.483																																																	0													1	1	1					10																	49388901		70	202	272	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2735G>A	10.37:g.49388901C>T	ENSP00000363317:p.Gly912Glu		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.G912E	ENST00000374201.3	37	c.2735	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	5.948	0.358910	0.11239	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.62788	0.03;0.0;0.0	5.13	-10.3	0.00346	.	.	.	.	.	T	0.29190	0.0726	N	0.14661	0.345	0.80722	P	0.0	B;B;B	0.27450	0.103;0.179;0.103	B;B;B	0.25140	0.058;0.033;0.058	T	0.08351	-1.0726	8	0.07813	T	0.8	.	3.5111	0.07708	0.1915:0.103:0.1445:0.561	.	887;912;880	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	E	912;887;880	ENSP00000363317:G912E;ENSP00000307079:G887E;ENSP00000384339:G880E	ENSP00000307079:G887E	G	-	2	0	FRMPD2	49058907	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.517000	0.02248	-3.272000	0.00199	-0.145000	0.13849	GGG	FRMPD2	-	NULL		0.483	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49388901	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49388901	C	T	49388901	3	4	38	1	0	0	0	0	1	0	0	0	6076	623	22	4	1230	4	FRMPD2	10	49388901	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	26549273	49388901	86145846	207	5411										
CHAT	1103	genome.wustl.edu	37	chr10	50833673	50833673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcatcatgccggagcctgagCacgtcatcgtagcctgctgc	12	14	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:50833673C>T	ENST00000337653.2	+	6	1060	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	CHAT_ENST00000455728.2_Missense_Mutation_p.H185Y|CHAT_ENST00000339797.1_Missense_Mutation_p.H185Y|CHAT_ENST00000395562.2_Missense_Mutation_p.H221Y|CHAT_ENST00000351556.3_Missense_Mutation_p.H185Y|CHAT_ENST00000395559.2_Missense_Mutation_p.H185Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	303					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAGCCTGAGCACGTCATCGT	0.572																																																	0													42	30	34					10																	50833673		2203	4300	6503	SO:0001583	missense	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.907C>T	10.37:g.50833673C>T	ENSP00000337103:p.His303Tyr		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.H303Y	ENST00000337653.2	37	c.907	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257333	0.80246	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.978;0.986	D	0.97038	0.9755	10	0.72032	D	0.01	-26.8268	19.0201	0.92910	0.0:1.0:0.0:0.0	.	185;303	F8W8I2;P28329	.;CLAT_HUMAN	Y	185;185;185;303;221;185	ENSP00000343486:H185Y;ENSP00000345878:H185Y;ENSP00000378926:H185Y;ENSP00000337103:H303Y;ENSP00000378929:H221Y;ENSP00000390521:H185Y	ENSP00000337103:H303Y	H	+	1	0	CHAT	50503679	1.000000	0.71417	0.958000	0.39756	0.380000	0.30137	7.805000	0.86005	2.496000	0.84212	0.411000	0.27672	CAC	CHAT	-	pfam_Carn_acyl_trans		0.572	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	C	NM_020549		50833673	1	no_errors	ENST00000337653	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50833673	C	T	50833673	3	4	38	1	0	0	0	0	1	0	0	0	3318	710	25	4	973	4	CHAT	10	50833673	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1444772	50833673	84701074	208	5412										
PRKG1	5592	genome.wustl.edu	37	chr10	53667321	53667321	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctcagcaagcttgctgatgtCcttgaagaggtaattgtttt	10	7	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:53667321C>T	ENST00000401604.2	+	5	902	c.708C>T	c.(706-708)gtC>gtT	p.V236V	PRKG1_ENST00000373985.1_Silent_p.V224V|PRKG1_ENST00000373980.4_Silent_p.V251V			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	236	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGCTGATGTCCTTGAAGAGG	0.433																																																	0													202	182	189					10																	53667321		2203	4300	6503	SO:0001819	synonymous_variant	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.708C>T	10.37:g.53667321C>T			A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom	p.V251	ENST00000401604.2	37	c.753	CCDS44399.1	10																																																																																			PRKG1	-	pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cGMP_dep_kinase,pfscan_cNMP-bd_dom		0.433	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		C			53667321	1	no_errors	ENST00000373980	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53667321	C	T	53667321	2	4	38	1	0	0	0	0	0	0	0	1	12549	842	30	1		1	PRKG1	10	53667321	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2833648	53667321	81867426	209	5413										
DUSP13	51207	genome.wustl.edu	37	chr10	76867864	76867864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	caggtagctcacactgctgcCgtagaagtcagggccgccct	12	14	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:76867864C>T	ENST00000372702.3	-	2	316	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	94					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACACTGCTGCCGTAGAAGTCA	0.612																																					NSCLC(174;1655 2059 12324 40663 42963)												0													40	48	45					10																	76867864		2030	4164	6194	SO:0001583	missense	51207			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.253G>A	10.37:g.76867864C>T	ENSP00000361787:p.Gly85Ser		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.G85S	ENST00000372702.3	37	c.253	CCDS53542.1	10	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480457	0.84747	.	.	ENSG00000079393	ENST00000372702	T	0.59772	0.24	5.2	4.29	0.51040	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.63674	0.2531	L	0.53561	1.675	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.60586	-0.7234	9	0.15066	T	0.55	.	7.8421	0.29403	0.1631:0.755:0.0:0.0819	.	85	Q6B8I1	MDSP_HUMAN	S	85	ENSP00000361787:G85S	ENSP00000361787:G85S	G	-	1	0	DUSP13	76537870	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.302000	0.59092	1.396000	0.46663	0.655000	0.94253	GGC	DUSP13	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.612	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	DUSP13	HGNC	protein_coding	OTTHUMT00000401503.3	C			76867864	-1	no_errors	ENST00000372702	ensembl	human	known	70_37	missense	SNP	0.998	T	T	76867864	C	T	76867864	3	4	38	1	0	0	0	0	1	0	0	0	4823	652	23	2	1217	2	DUSP13	10	76867864	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	23200543	76867864	58666883	210	5414										
C10orf118	55088	genome.wustl.edu	37	chr10	115922445	115922445	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tttatcttgcacacacttttCaaacagaactaatgcatgtt	4	9	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:115922445C>G	ENST00000369287.3	-	2	849	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q	C10orf118_ENST00000369286.1_Missense_Mutation_p.E195Q|C10orf118_ENST00000369285.3_Missense_Mutation_p.E195Q	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		195										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACACACTTTTCAAACAGAACT	0.348																																																	0													61	57	58					10																	115922445		2202	4300	6502	SO:0001583	missense	55088																														ENST00000369287.3:c.583G>C	10.37:g.115922445C>G	ENSP00000358293:p.Glu195Gln		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E195Q	ENST00000369287.3	37	c.583	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756890	0.89843	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.34859	1.34;1.34;1.34	5.48	5.48	0.80851	.	0.157290	0.56097	D	0.000031	T	0.49609	0.1567	L	0.59436	1.845	0.80722	D	1	D	0.61080	0.989	P	0.52957	0.714	T	0.51568	-0.8689	10	0.72032	D	0.01	.	17.5741	0.87943	0.0:1.0:0.0:0.0	.	195	Q7Z3E2	CJ118_HUMAN	Q	195;301;195;195	ENSP00000358293:E195Q;ENSP00000358292:E195Q;ENSP00000358291:E195Q	ENSP00000358291:E195Q	E	-	1	0	C10orf118	115912435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.000000	0.76290	2.579000	0.87056	0.650000	0.86243	GAA	C10orf118	-	NULL		0.348	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	C			115922445	-1	no_errors	ENST00000369287	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115922445	C	G	115922445	3	3	38	1	0	0	0	0	1	0	0	0	1591	835	29	1	2173	1	C10orf118	10	115922445	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	39054581	115922445	19612302	211	5415										
METTL10	399818	genome.wustl.edu	37	chr10	126463297	126463297	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tataatacttccagaaagctGaattgcagaaggagagtaat	9	5	0	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:126463297G>A	ENST00000368836.2	-	4	382	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	RP11-12J10.3_ENST00000494792.1_Silent_p.F80F	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	116							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		CCAGAAAGCTGAATTGCAGAA	0.229																																																	0													19	22	21					10																	126463297		2054	4109	6163	SO:0001587	stop_gained	399818				CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 138"	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.346C>T	10.37:g.126463297G>A	ENSP00000357829:p.Gln116*		A8MPY7	Nonsense_Mutation	SNP	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase	p.Q116*	ENST00000368836.2	37	c.346	CCDS31307.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.164056	0.94727	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	.	.	.	5.65	4.72	0.59763	.	0.181905	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.9484	11.273	0.49150	0.0:0.1332:0.7197:0.1471	.	.	.	.	X	116	.	ENSP00000351845:Q116X	Q	-	1	0	METTL10	126453287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.504000	0.45416	1.564000	0.49628	0.655000	0.94253	CAG	METTL10	-	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase		0.229	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL10	HGNC	protein_coding	OTTHUMT00000050884.1	G	NM_212554		126463297	-1	no_errors	ENST00000368836	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	126463297	G	A	126463297	4	1	38	1	0	0	0	0	0	1	0	0	9517	1299	45	1	545	1	METTL10	10	126463297	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	10540852	126463297	9071450	212	5416										
METTL10	399818	genome.wustl.edu	37	chr10	126463309	126463309	+	Missense_Mutation	SNP	G	G	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaaagctgaattgcagaagGagagtaatcaattccagtaa							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:126463309G>A	ENST00000368836.2	-	4	370	c.334C>T	c.(334-336)Cct>Tct	p.P112S	RP11-12J10.3_ENST00000494792.1_Silent_p.L76L	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	112							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		ATTGCAGAAGGAGAGTAATCA	0.224																																																	0													19	22	21					10																	126463309		2056	4113	6169	SO:0001583	missense	399818				CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 138"	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.334C>T	10.37:g.126463309G>A	ENSP00000357829:p.Pro112Ser		A8MPY7	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase	p.P112S	ENST00000368836.2	37	c.334	CCDS31307.1	10	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163733	0.38217	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	T	0.64260	-0.09	5.65	2.69	0.31865	.	0.332824	0.31554	N	0.007449	T	0.52597	0.1744	L	0.35644	1.08	0.36839	D	0.887280	B;B;B	0.31769	0.005;0.127;0.339	B;B;B	0.37989	0.017;0.262;0.148	T	0.59284	-0.7483	9	0.35671	T	0.21	-7.5041	10.2455	0.43339	0.0:0.2468:0.4977:0.2555	.	34;113;112	E7EP98;B5MDU2;Q5JPI9	.;.;MTL10_HUMAN	S	112	ENSP00000357829:P112S	ENSP00000351845:P112S	P	-	1	0	METTL10	126453299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.675000	0.37555	0.433000	0.26313	0.655000	0.94253	CCT	METTL10	-	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase		0.224	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL10	HGNC	protein_coding	OTTHUMT00000050884.1	G	NM_212554		126463309	-1	no_errors	ENST00000368836	ensembl	human	known	70_37	missense	SNP	0.998	A	A	126463309	G	A	126463309	3	1	38	1	0	0	0	0	1	0	0	0	9517	1174	41	1	557	1	METTL10	10	126463309	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	12	126463309	9071438	213	5417	25	2								
METTL10	399818	genome.wustl.edu	37	chr10	126463311	126463311	+	Missense_Mutation	SNP	G	G	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaagctgaattgcagaaggaGagtaatcaattccagtaata							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr10:126463311G>A	ENST00000368836.2	-	4	368	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RP11-12J10.3_ENST00000494792.1_Missense_Mutation_p.L76F	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	111							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		TGCAGAAGGAGAGTAATCAAT	0.224																																																	0													19	22	21					10																	126463311		2058	4111	6169	SO:0001583	missense	399818				CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 138"	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.332C>T	10.37:g.126463311G>A	ENSP00000357829:p.Ser111Phe		A8MPY7	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase	p.S111F	ENST00000368836.2	37	c.332	CCDS31307.1	10	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710418	0.68730	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	T	0.75367	-0.93	5.65	4.71	0.59529	.	0.059833	0.64402	D	0.000001	D	0.88325	0.6406	M	0.89785	3.06	0.44595	D	0.997565	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.947;0.997;0.989	D	0.90376	0.4384	9	0.87932	D	0	-17.7063	15.8153	0.78595	0.0:0.3286:0.6714:0.0	.	33;112;111	E7EP98;B5MDU2;Q5JPI9	.;.;MTL10_HUMAN	F	111	ENSP00000357829:S111F	ENSP00000351845:S111F	S	-	2	0	METTL10	126453301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.582000	0.53921	2.941000	0.99782	0.655000	0.94253	TCT	METTL10	-	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase		0.224	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL10	HGNC	protein_coding	OTTHUMT00000050884.1	G	NM_212554		126463311	-1	no_errors	ENST00000368836	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126463311	G	A	126463311	3	1	38	1	0	0	0	0	1	0	0	0	9517	942	33	1	559	1	METTL10	10	126463311	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2	126463311	9071436	214	5418	25	2								
B4GALNT4	338707	genome.wustl.edu	37	chr11	373249	373249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gagttctggctgagtctggaCgagagccctgctgctgccca	14	12	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:373249C>T	ENST00000329962.6	+	6	594	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	198					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGTCTGGACGAGAGCCCTG	0.637																																																	0													60	59	59					11																	373249		2200	4291	6491	SO:0001819	synonymous_variant	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.594C>T	11.37:g.373249C>T			Q96LV2	Silent	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.D198	ENST00000329962.6	37	c.594	CCDS7694.1	11																																																																																			B4GALNT4	-	pfam_PA14,smart_PA14		0.637	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	C	NM_178537		373249	1	no_errors	ENST00000329962	ensembl	human	known	70_37	silent	SNP	0.410	T	T	373249	C	T	373249	2	4	38	1	0	0	0	0	0	0	0	1	1270	535	19	2		2	B4GALNT4	11	373249	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		373249	134633267	215	5419										
B4GALNT4	338707	genome.wustl.edu	37	chr11	376300	376300	+	Missense_Mutation	SNP	G	G	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acaaggaggagggggatgagGatgaagaagacgaggtgcag							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:376300G>A	ENST00000329962.6	+	13	1246	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	416					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGGATGAGGATGAAGAAGA	0.662																																																	0													73	74	74					11																	376300		2197	4298	6495	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1246G>A	11.37:g.376300G>A	ENSP00000328277:p.Asp416Asn		Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.D416N	ENST00000329962.6	37	c.1246	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	g	10.89	1.478361	0.26511	.	.	ENSG00000182272	ENST00000329962	T	0.04917	3.53	2.7	2.7	0.31948	.	0.733168	0.11737	N	0.534368	T	0.06962	0.0177	L	0.44542	1.39	0.39056	D	0.960429	P	0.34522	0.455	B	0.34301	0.179	T	0.41052	-0.9530	10	0.17832	T	0.49	-5.0047	12.6865	0.56949	0.0:0.0:1.0:0.0	.	416	Q76KP1	B4GN4_HUMAN	N	416	ENSP00000328277:D416N	ENSP00000328277:D416N	D	+	1	0	B4GALNT4	366300	0.225000	0.23685	0.010000	0.14722	0.058000	0.15608	2.107000	0.41844	1.808000	0.52836	0.430000	0.28490	GAT	B4GALNT4	-	NULL		0.662	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	G	NM_178537		376300	1	no_errors	ENST00000329962	ensembl	human	known	70_37	missense	SNP	0.989	A	A	376300	G	A	376300	3	1	38	1	0	0	0	0	1	0	0	0	1270	1174	41	1	1296	1	B4GALNT4	11	376300	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	3051	376300	134630216	216	5420	26	2								
B4GALNT4	338707	genome.wustl.edu	37	chr11	376309	376309	+	Missense_Mutation	SNP	G	G	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agggggatgaggatgaagaaGacgaggtgcagcgccgagcc							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:376309G>A	ENST00000329962.6	+	13	1255	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	419					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGAAGAAGACGAGGTGCA	0.652																																																	0													73	73	73					11																	376309		2198	4298	6496	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1255G>A	11.37:g.376309G>A	ENSP00000328277:p.Asp419Asn		Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.D419N	ENST00000329962.6	37	c.1255	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	g	8.085	0.773317	0.16051	.	.	ENSG00000182272	ENST00000329962	T	0.05025	3.51	2.4	2.4	0.29515	.	1.230140	0.05900	N	0.629812	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.30822	-0.9965	10	0.19590	T	0.45	-6.0865	12.049	0.53495	0.0:0.0:1.0:0.0	.	419	Q76KP1	B4GN4_HUMAN	N	419	ENSP00000328277:D419N	ENSP00000328277:D419N	D	+	1	0	B4GALNT4	366309	0.492000	0.26027	0.020000	0.16555	0.160000	0.22226	2.697000	0.47060	1.651000	0.50673	0.430000	0.28490	GAC	B4GALNT4	-	NULL		0.652	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	G	NM_178537		376309	1	no_errors	ENST00000329962	ensembl	human	known	70_37	missense	SNP	0.427	A	A	376309	G	A	376309	3	1	38	1	0	0	0	0	1	0	0	0	1270	942	33	1	1305	1	B4GALNT4	11	376309	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	9	376309	134630207	217	5421	26	2								
C11orf35	256329	genome.wustl.edu	37	chr11	558613	558613	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctggggactgtgctgcagaCctcttgggcggaagccccgc	16	13	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:558613C>T	ENST00000329451.3	-	3	374		c.e3+1		RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RASSF7_ENST00000431809.1_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN												NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCTGCAGACCTCTTGGGCG	0.652																																																	0													16	17	17					11																	558613		2193	4296	6489	SO:0001630	splice_region_variant	256329																														ENST00000329451.3:c.311+1G>A	11.37:g.558613C>T				Splice_Site	SNP	-	e3+1	ENST00000329451.3	37	c.311+1	CCDS7701.1	11	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617793	0.28801	.	.	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	.	.	.	3.99	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.32984	D	0.524045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4351	0.27150	0.0:0.8794:0.0:0.1206	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf35	548613	0.998000	0.40836	0.817000	0.32601	0.040000	0.13550	1.686000	0.37669	0.902000	0.36520	0.462000	0.41574	.	C11orf35	-	-		0.652	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	C		Intron	558613	-1	no_errors	ENST00000329451	ensembl	human	known	70_37	splice_site	SNP	0.308	T	T	558613	C	T	558613	5	4	38	1	0	0	0	0	0	0	1	0	1642	521	18	4	1640	4	C11orf35	11	558613	Splice_Site	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	182304	558613	134447903	218	5422										
MUC5B	727897	genome.wustl.edu	37	chr11	1264292	1264292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacaaccacgggcttcacagCcaccccctcctccagcccag	6	22	1	0	rs61997210	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:1264292C>T	ENST00000529681.1	+	31	6240	c.6182C>T	c.(6181-6183)gCc>gTc	p.A2061V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A2064V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2061	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTTCACAGCCACCCCCTCC	0.647													C|||	242	0.0483227	0.0575	0.1052	5008	,	,		16379	0.003		0.0497	False		,,,				2504	0.0409																0								C	VAL/ALA	223,3813		11,201,1806	76	95	89		6182	-2	0	11	dbSNP_129	89	412,7944		29,354,3795	no	missense	MUC5B	NM_002458.2	64	40,555,5601	TT,TC,CC		4.9306,5.5253,5.1243	benign	2061/5763	1264292	635,11757	2018	4178	6196	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6182C>T	11.37:g.1264292C>T	ENSP00000436812:p.Ala2061Val		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A2064V	ENST00000529681.1	37	c.6191	CCDS44515.2	11	85	0.03891941391941392	17	0.034552845528455285	28	0.07734806629834254	0	0.0	40	0.052770448548812667	c	6.988	0.552384	0.13374	0.055253	0.049306	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17213	2.29;2.47	1.96	-1.97	0.07503	.	.	.	.	.	T	0.00666	0.0022	M	0.65975	2.015	0.09310	N	1	B;P	0.43477	0.435;0.808	B;B	0.32393	0.111;0.145	T	0.10800	-1.0614	9	0.87932	D	0	.	5.8273	0.18560	0.1889:0.4363:0.3747:0.0	rs61997210	2754;2064	A7Y9J9;E9PBJ0	.;.	V	2061;2064;2062;2131	ENSP00000436812:A2061V;ENSP00000415793:A2064V	ENSP00000343037:A2062V	A	+	2	0	MUC5B	1220868	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.106000	0.15354	-0.202000	0.10268	0.195000	0.17529	GCC	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1264292	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1264292	C	T	1264292	3	4	38	1	0	0	0	0	1	0	0	0	10002	739	26	4	6313	4	MUC5B	11	1264292	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	705679	1264292	133742224	219	5423										
SMPD1	6609	genome.wustl.edu	37	chr11	6411941	6411941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttggatgggcctggtgctggCgctggcgctggcgctggcgc	20	11	0	0	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:6411941C>T	ENST00000342245.4	+	1	281	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000299397.3_Missense_Mutation_p.A38V|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38V|SMPD1_ENST00000527275.1_Missense_Mutation_p.A38V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	38					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	ctggtgctggcgctggcgctg	0.711																																																	0													11	14	13					11																	6411941		2185	4258	6443	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.113C>T	11.37:g.6411941C>T	ENSP00000340409:p.Ala38Val		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.A38V	ENST00000342245.4	37	c.113	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234305	0.39498	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.54	-1.08	0.09936	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.002;0.005	T	0.47275	-0.9130	9	0.12103	T	0.63	.	6.8659	0.24093	0.0:0.5614:0.262:0.1766	.	38;38	E9PKS3;G3XAB5	.;.	V	38	ENSP00000299397:A38V;ENSP00000349203:A38V;ENSP00000340409:A38V;ENSP00000435350:A38V	ENSP00000299397:A38V	A	+	2	0	SMPD1	6368517	0.000000	0.05858	0.130000	0.21974	0.033000	0.12548	-2.110000	0.01334	-0.479000	0.06813	-1.305000	0.01319	GCG	SMPD1	-	pirsf_Sphingomy_PDE		0.711	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6411941	1	no_errors	ENST00000342245	ensembl	human	known	70_37	missense	SNP	0.351	T	T	6411941	C	T	6411941	3	4	38	1	0	0	0	0	1	0	0	0	14834	768	27	2	115	2	SMPD1	11	6411941	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5147649	6411941	128594575	220	5424										
TAF10	6881	genome.wustl.edu	37	chr11	6632183	6632183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tagtgcggcttcttcacattGatgccatactcgctgagggc	11	11	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:6632183G>C	ENST00000299424.4	-	5	1104	c.627C>G	c.(625-627)atC>atG	p.I209M	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	209					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTTCACATTGATGCCATACT	0.502																																																	0													158	138	144					11																	6632183		2201	4296	6497	SO:0001583	missense	6881			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.627C>G	11.37:g.6632183G>C	ENSP00000299424:p.Ile209Met		O00703|Q13175|Q6FH13	Missense_Mutation	SNP	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.I209M	ENST00000299424.4	37	c.627	CCDS7769.1	11	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589539	0.46214	.	.	ENSG00000166337	ENST00000299424	T	0.57107	0.42	4.99	4.0	0.46444	.	0.057276	0.64402	D	0.000002	T	0.63815	0.2543	M	0.66506	2.035	0.52099	D	0.99994	D	0.59357	0.985	P	0.57720	0.826	T	0.65635	-0.6120	10	0.52906	T	0.07	-10.2634	12.3685	0.55242	0.0953:0.0:0.9047:0.0	.	209	Q12962	TAF10_HUMAN	M	209	ENSP00000299424:I209M	ENSP00000299424:I209M	I	-	3	3	TAF10	6588759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.859000	0.48364	2.582000	0.87167	0.655000	0.94253	ATC	TAF10	-	pirsf_TFIID_30kDa,prints_TFIID_30kDa		0.502	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	HGNC	protein_coding	OTTHUMT00000257259.2	G	NM_006284		6632183	-1	no_errors	ENST00000299424	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6632183	G	C	6632183	3	2	38	1	0	0	0	0	1	0	0	0	15544	1280	45	1	33	1	TAF10	11	6632183	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	220242	6632183	128374333	221	5425										
LMO1	4004	genome.wustl.edu	37	chr11	8251849	8251849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcagcccacctcaggtagtcGcgtcggcacaggatgaggtt	14	12	1	1	rs376120856		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:8251849G>A	ENST00000335790.3	-	2	723	c.228C>T	c.(226-228)cgC>cgT	p.R76R	LMO1_ENST00000534484.1_Silent_p.R65R|LMO1_ENST00000428101.2_Silent_p.R75R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	76	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TCAGGTAGTCGCGTCGGCACA	0.652			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0								G		0,4402		0,0,2201	77	80	79		228	-9.7	0.1	11		79	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	LMO1	NM_002315.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		76/157	8251849	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	4004			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.228C>T	11.37:g.8251849G>A			E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R76	ENST00000335790.3	37	c.228	CCDS44534.1	11																																																																																			LMO1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.652	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	G	NM_002315		8251849	-1	no_errors	ENST00000335790	ensembl	human	known	70_37	silent	SNP	0.334	A	A	8251849	G	A	8251849	2	1	38	1	0	0	0	0	0	0	0	1	8872	1074	38	2		2	LMO1	11	8251849	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1619666	8251849	126754667	222	5426										
SOX6	55553	genome.wustl.edu	37	chr11	16036581	16036581	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	taactggggccccaaattctCaaagcgcgttctttcctaga	8	12	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:16036581C>G	ENST00000352083.6	-	13	1716	c.1639G>C	c.(1639-1641)Gag>Cag	p.E547Q	SOX6_ENST00000527619.1_Missense_Mutation_p.E523Q|SOX6_ENST00000316399.6_Missense_Mutation_p.E547Q|SOX6_ENST00000396356.3_Missense_Mutation_p.E547Q|SOX6_ENST00000528429.1_Missense_Mutation_p.E547Q|SOX6_ENST00000528252.1_Missense_Mutation_p.E520Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	547					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCCAAATTCTCAAAGCGCGTT	0.463																																																	0													73	71	72					11																	16036581		2200	4293	6493	SO:0001583	missense	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1639G>C	11.37:g.16036581C>G	ENSP00000339876:p.Glu547Gln		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E547Q	ENST00000352083.6	37	c.1639		11	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905736	0.72868	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98512	-4.69;-4.96;-4.69;-4.97;-4.97;-4.96	6.02	6.02	0.97574	.	0.094486	0.64402	D	0.000001	D	0.98469	0.9490	M	0.69358	2.11	0.80722	D	1	P;B;B	0.47034	0.889;0.133;0.184	P;B;B	0.55011	0.766;0.243;0.173	D	0.98402	1.0568	10	0.48119	T	0.1	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	547;547;523	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	Q	547;547;547;520;523;547	ENSP00000324948:E547Q;ENSP00000339876:E547Q;ENSP00000379644:E547Q;ENSP00000432134:E520Q;ENSP00000434455:E523Q;ENSP00000433233:E547Q	ENSP00000324948:E547Q	E	-	1	0	SOX6	15993157	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.158000	0.77470	2.865000	0.98341	0.655000	0.94253	GAG	SOX6	-	NULL		0.463	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	C	NM_033326		16036581	-1	no_errors	ENST00000352083	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16036581	C	G	16036581	3	3	38	1	0	0	0	0	1	0	0	0	14985	835	29	1	863	1	SOX6	11	16036581	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	7784732	16036581	118969935	223	5427										
CKAP5	9793	genome.wustl.edu	37	chr11	46771944	46771944	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaatggttcaatgtcagcatCtgagtatttcttcttatatt	6	6	5	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:46771944C>T	ENST00000529230.1	-	42	5630	c.5584G>A	c.(5584-5586)Gat>Aat	p.D1862N	CKAP5_ENST00000354558.3_Missense_Mutation_p.D1802N|CKAP5_ENST00000415402.1_Missense_Mutation_p.D1869N|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000312055.5_Missense_Mutation_p.D1802N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1862					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATGTCAGCATCTGAGTATTTC	0.438																																					Ovarian(4;85 273 2202 4844 13323)												0													116	112	113					11																	46771944		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5584G>A	11.37:g.46771944C>T	ENSP00000432768:p.Asp1862Asn		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D1869N	ENST00000529230.1	37	c.5605	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.455797|5.455797	0.96223|0.96223	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.68765|.	-0.35;-0.35;0.83;0.83|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73118|0.73118	0.3546|0.3546	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.996;0.987;0.978|.	P;P;P|.	0.61874|.	0.895;0.811;0.651|.	T|T	0.69738|0.69738	-0.5064|-0.5064	10|5	0.46703|.	T|.	0.11|.	-33.382|-33.382	19.6419|19.6419	0.95762|0.95762	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1869;1802;1862|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	N|K	1862;1869;1802;1802|100	ENSP00000432768:D1862N;ENSP00000395302:D1869N;ENSP00000310227:D1802N;ENSP00000346566:D1802N|.	ENSP00000310227:D1802N|.	D|R	-|-	1|2	0|0	CKAP5|CKAP5	46728520|46728520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.649000|2.649000	0.89929|0.89929	0.549000|0.549000	0.68633|0.68633	GAT|AGA	CKAP5	-	superfamily_ARM-type_fold		0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	C	NM_014756		46771944	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46771944	C	T	46771944	3	4	38	1	0	0	0	0	1	0	0	0	3450	913	32	1	526	1	CKAP5	11	46771944	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	30735363	46771944	88234572	224	5428										
OR1S1	219959	genome.wustl.edu	37	chr11	57983167	57983167	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaaggtgccctgagaaagctCatcaatagaaaaatttcttc	7	8	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:57983167C>T	ENST00000309433.6	+	1	951	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGAGAAAGCTCATCAATAGAA	0.418																																																	0													141	140	141					11																	57983167		2201	4295	6496	SO:0001819	synonymous_variant	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.951C>T	11.37:g.57983167C>T			Q6IFG3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L317	ENST00000309433.6	37	c.951	CCDS31546.1	11																																																																																			OR1S1	-	NULL		0.418	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	C	NM_001004458		57983167	1	no_errors	ENST00000309433	ensembl	human	known	70_37	silent	SNP	0.000	T	T	57983167	C	T	57983167	2	4	38	1	0	0	0	0	0	0	0	1	10996	813	29	1		1	OR1S1	11	57983167	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	11211223	57983167	77023349	225	5429										
VWCE	220001	genome.wustl.edu	37	chr11	61034994	61034994	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaggtctcgttgttatagaaGattctgcctgtgtaggtgca	12	6	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:61034994G>A	ENST00000335613.5	-	16	2291	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	VWCE_ENST00000535710.1_Silent_p.I100I	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	635	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTTATAGAAGATTCTGCCTG	0.607																																																	0													135	106	116					11																	61034994		2203	4299	6502	SO:0001819	synonymous_variant	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1905C>T	11.37:g.61034994G>A			A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.I635	ENST00000335613.5	37	c.1905	CCDS8002.1	11																																																																																			VWCE	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.607	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	G	NM_152718		61034994	-1	no_errors	ENST00000335613	ensembl	human	known	70_37	silent	SNP	1.000	A	A	61034994	G	A	61034994	2	1	38	1	0	0	0	0	0	0	0	1	17276	932	33	1		1	VWCE	11	61034994	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	3051827	61034994	73971522	226	5430										
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546763	65546763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgcaggagactgggcaggaGaccacggcatagctggggcc	17	10	0	2	rs201041158	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:65546763G>A	ENST00000532090.2	-	2	1411	c.1201C>T	c.(1201-1203)Ctc>Ttc	p.L401F		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	401	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						CTGGGCAGGAGACCACGGCAT	0.627													G|||	7	0.00139776	0	0.0029	5008	,	,		18040	0		0.003	False		,,,				2504	0.002																0								G	PHE/LEU	4,4180		0,4,2088	19	23	22		1030	5	0.9	11		22	42,8380		0,42,4169	yes	missense	DKFZp761E198	NM_138368.3	22	0,46,6257	AA,AG,GG		0.4987,0.0956,0.3649	probably-damaging	344/822	65546763	46,12560	2092	4211	6303	SO:0001583	missense	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1201C>T	11.37:g.65546763G>A	ENSP00000454303:p.Leu401Phe		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.L401F	ENST00000532090.2	37	c.1201	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.627	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546763	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	missense	SNP	0.939	A	A	65546763	G	A	65546763	3	1	38	1	0	0	0	0	1	0	0	0	4553	942	33	1	1439	1	DKFZp761E198	11	65546763	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4511769	65546763	69459753	227	5431										
SPTBN2	6712	genome.wustl.edu	37	chr11	66478212	66478212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	actcgtatttctccaccaggCgctctgcctccatggcatgg	9	15	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:66478212C>T	ENST00000533211.1	-	10	1245	c.914G>A	c.(913-915)cGc>cAc	p.R305H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R305H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R305H|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	305					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCACCAGGCGCTCTGCCTC	0.627																																																	0													65	55	59					11																	66478212		2200	4295	6495	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.914G>A	11.37:g.66478212C>T	ENSP00000432568:p.Arg305His		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R305H	ENST00000533211.1	37	c.914	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372044	0.82573	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.68479	-0.33;-0.33;-0.33	5.0	4.07	0.47477	.	0.125415	0.56097	N	0.000028	T	0.69070	0.3070	M	0.68952	2.095	0.30226	N	0.796313	D	0.65815	0.995	P	0.53760	0.734	T	0.67569	-0.5637	10	0.38643	T	0.18	.	6.1719	0.20422	0.0:0.7095:0.0:0.2905	.	305	O15020	SPTN2_HUMAN	H	305	ENSP00000432568:R305H;ENSP00000311489:R305H;ENSP00000433593:R305H	ENSP00000311489:R305H	R	-	2	0	SPTBN2	66234788	0.315000	0.24571	1.000000	0.80357	0.992000	0.81027	1.645000	0.37238	1.302000	0.44855	0.563000	0.77884	CGC	SPTBN2	-	pirsf_Spectrin_bsu		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66478212	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66478212	C	T	66478212	3	4	38	1	0	0	0	0	1	0	0	0	15150	768	27	2	6374	2	SPTBN2	11	66478212	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	931449	66478212	68528304	228	5432										
PPME1	51400	genome.wustl.edu	37	chr11	73915461	73915461	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tccttctgcatggaggaggtCattctgccctttcttgggct	11	11	4	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:73915461C>T	ENST00000328257.8	+	3	582	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Missense_Mutation_p.H87Y			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	87					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TGGAGGAGGTCATTCTGCCCT	0.398																																																	0													137	131	133					11																	73915461		1907	4106	6013	SO:0001583	missense	51400				CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.259C>T	11.37:g.73915461C>T	ENSP00000329867:p.His87Tyr		B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	pirsf_PPase_methylesterase_euk	p.H87Y	ENST00000328257.8	37	c.259	CCDS44678.1	11	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668809	0.29604	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T;T;T	0.68025	-0.3;-0.3;4.99	5.93	5.93	0.95920	.	0.045801	0.85682	D	0.000000	T	0.53769	0.1817	L	0.27053	0.805	0.80722	D	1	B	0.16166	0.016	B	0.23716	0.048	T	0.51403	-0.8710	10	0.02654	T	1	-23.2801	19.1254	0.93380	0.0:1.0:0.0:0.0	.	87	Q9Y570	PPME1_HUMAN	Y	87	ENSP00000329867:H87Y;ENSP00000381461:H87Y;ENSP00000438632:H87Y	ENSP00000329867:H87Y	H	+	1	0	PPME1	73593109	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.802000	0.75175	2.826000	0.97356	0.655000	0.94253	CAT	PPME1	-	pirsf_PPase_methylesterase_euk		0.398	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PPME1	HGNC	protein_coding	OTTHUMT00000398254.1	C	NM_016147		73915461	1	no_errors	ENST00000328257	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73915461	C	T	73915461	3	4	38	1	0	0	0	0	1	0	0	0	12374	826	29	1	269	1	PPME1	11	73915461	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	7437249	73915461	61091055	229	5433										
PPME1	51400	genome.wustl.edu	37	chr11	73915487	73915487	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccctttcttgggctgtgttCacggtaagtaggttgttgat	13	7	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:73915487C>A	ENST00000328257.8	+	3	608	c.285C>A	c.(283-285)ttC>ttA	p.F95L	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Missense_Mutation_p.F95L			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	95					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GGGCTGTGTTCACGGTAAGTA	0.413																																																	0													134	126	128					11																	73915487		1913	4117	6030	SO:0001583	missense	51400				CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.285C>A	11.37:g.73915487C>A	ENSP00000329867:p.Phe95Leu		B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	pirsf_PPase_methylesterase_euk	p.F95L	ENST00000328257.8	37	c.285	CCDS44678.1	11	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940119	0.52972	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T;T;T	0.61859	0.07;0.07;5.12	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	N	0.17312	0.475	0.80722	D	1	B	0.20887	0.049	B	0.29353	0.101	T	0.23691	-1.0181	10	0.05833	T	0.94	-24.5312	12.4466	0.55654	0.0:0.923:0.0:0.077	.	95	Q9Y570	PPME1_HUMAN	L	95	ENSP00000329867:F95L;ENSP00000381461:F95L;ENSP00000438632:F95L	ENSP00000329867:F95L	F	+	3	2	PPME1	73593135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.326000	0.33735	2.826000	0.97356	0.655000	0.94253	TTC	PPME1	-	pirsf_PPase_methylesterase_euk		0.413	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PPME1	HGNC	protein_coding	OTTHUMT00000398254.1	C	NM_016147		73915487	1	no_errors	ENST00000328257	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73915487	C	A	73915487	3	1	38	1	0	0	0	0	1	0	0	0	12374	825	29	3	295	3	PPME1	11	73915487	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	26	73915487	61091029	230	5434										
XRRA1	143570	genome.wustl.edu	37	chr11	74651899	74651899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtaaggcttcccatcatccaGcttgtagattcctgagaagg	10	10	1	2	rs201378132		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:74651899G>A	ENST00000340360.6	-	3	356	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000527087.1_Silent_p.L9L	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CCATCATCCAGCTTGTAGATT	0.517													G|||	1	0.000199681	0	0	5008	,	,		21449	0		0.001	False		,,,				2504	0																0								G		0,4270		0,0,2135	56	56	56		25	-0.4	1	11		56	7,8531		0,7,4262	no	coding-synonymous	XRRA1	NM_182969.1		0,7,6397	AA,AG,GG		0.082,0.0,0.0547		9/793	74651899	7,12801	2135	4269	6404	SO:0001819	synonymous_variant	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.25C>T	11.37:g.74651899G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L9	ENST00000340360.6	37	c.25	CCDS44680.1	11																																																																																			XRRA1	-	NULL		0.517	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	G	NM_182969		74651899	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	silent	SNP	0.963	A	A	74651899	G	A	74651899	2	1	38	1	0	0	0	0	0	0	0	1	17492	962	34	4		4	XRRA1	11	74651899	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	736412	74651899	60354617	231	5435										
INTS4	92105	genome.wustl.edu	37	chr11	77629950	77629950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctttcaaggctctgctgcagGaactgctgggaaggatcctc	12	11	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:77629950G>A	ENST00000534064.1	-	15	1873	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	613					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCTGCTGCAGGAACTGCTGGG	0.502																																																	0													96	93	94					11																	77629950		2200	4292	6492	SO:0001819	synonymous_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1839C>T	11.37:g.77629950G>A			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.F613	ENST00000534064.1	37	c.1839	CCDS31644.1	11																																																																																			INTS4	-	NULL		0.502	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77629950	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	silent	SNP	0.999	A	A	77629950	G	A	77629950	2	1	38	1	0	0	0	0	0	0	0	1	7800	1165	41	1		1	INTS4	11	77629950	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2978051	77629950	57376566	232	5436										
PRCP	5547	genome.wustl.edu	37	chr11	82564294	82564294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aacaccaacatagctttcagTtcctcagccacatcccacat	3	16	2	0	rs2229437	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:82564294T>G	ENST00000313010.3	-	3	530	c.336A>C	c.(334-336)gaA>gaC	p.E112D	PRCP_ENST00000535099.1_Missense_Mutation_p.E7D|PRCP_ENST00000393399.2_Missense_Mutation_p.E133D	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	112			E -> D (in dbSNP:rs2298668). {ECO:0000269|PubMed:14702039}.		angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TAGCTTTCAGTTCCTCAGCCA	0.383													T|||	698	0.139377	0.1051	0.1297	5008	,	,		17253	0.1131		0.1869	False		,,,				2504	0.1708																0								T	ASP/GLU,ASP/GLU	565,3841	250.0+/-257.2	43,479,1681	115	96	103		336,399	2.9	1	11	dbSNP_100	103	1545,7055	290.4+/-299.8	144,1257,2899	yes	missense,missense	PRCP	NM_005040.2,NM_199418.2	45,45	187,1736,4580	GG,GT,TT		17.9651,12.8234,16.2233	benign,benign	112/497,133/518	82564294	2110,10896	2203	4300	6503	SO:0001583	missense	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.336A>C	11.37:g.82564294T>G	ENSP00000317362:p.Glu112Asp		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.E133D	ENST00000313010.3	37	c.399	CCDS8262.1	11	302	0.1382783882783883	51	0.10365853658536585	52	0.143646408839779	57	0.09965034965034965	142	0.18733509234828497	T	14.55	2.569018	0.45798	0.128234	0.179651	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126;ENST00000534264	T;T;T;T;T;T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.27	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.65677	2.01	0.23304	P	0.99794875	B;B	0.23540	0.001;0.087	B;B	0.27608	0.005;0.081	T	0.16041	-1.0416	8	.	.	.	-22.6635	7.2281	0.26026	0.0:0.3153:0.0:0.6847	rs2298668;rs17649579;rs52813874;rs2298668	112;133	P42785;A8MU24	PCP_HUMAN;.	D	112;133;7;7;7;7;7;7;71;7;58;7;7	ENSP00000317362:E112D;ENSP00000377055:E133D;ENSP00000442077:E7D;ENSP00000432004:E7D;ENSP00000431559:E7D;ENSP00000436141:E7D;ENSP00000431435:E7D;ENSP00000432506:E7D;ENSP00000434771:E71D;ENSP00000435071:E7D;ENSP00000437169:E58D;ENSP00000431496:E7D;ENSP00000436095:E7D	.	E	-	3	2	PRCP	82241942	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.547000	0.23299	0.864000	0.35578	0.528000	0.53228	GAA	PRCP	-	pfam_Peptidase_S28		0.383	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	T	NM_005040		82564294	-1	no_errors	ENST00000393399	ensembl	human	known	70_37	missense	SNP	1.000	G	G	82564294	T	G	82564294	3	3	38	1	0	0	0	0	1	0	0	0	12476	1722	60	5	1182	5	PRCP	11	82564294	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	4934344	82564294	52442222	233	5437										
TYR	7299	genome.wustl.edu	37	chr11	89017961	89017961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tatttttgagcagtggctccGaaggcaccgtcctcttcaag	10	11	2	1	rs1126809	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:89017961G>A	ENST00000263321.5	+	4	1707	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	402			R -> G (in OCA1B).|R -> L (in OCA1A). {ECO:0000269|PubMed:15146472}.|R -> Q (in dbSNP:rs1126809). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:2342539, ECO:0000269|PubMed:7955413, ECO:0000269|PubMed:9158138}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CAGTGGCTCCGAAGGCACCGT	0.368													G|||	407	0.08127	0.0091	0.1254	5008	,	,		15773	0.001		0.2525	False		,,,				2504	0.0542																0			GRCh37	CM041478|CM971555	TYR	M	rs1126809	G	GLN/ARG	223,4179	130.2+/-166.9	8,207,1986	60	61	61	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1205	4.7	1	11	dbSNP_86	61	2418,6180	399.1+/-346.3	322,1774,2203	yes	missense	TYR	NM_000372.4	43	330,1981,4189	AA,AG,GG		28.1228,5.0659,20.3154	probably-damaging	402/530	89017961	2641,10359	2201	4299	6500	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1205G>A	11.37:g.89017961G>A	ENSP00000263321:p.Arg402Gln		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R402Q	ENST00000263321.5	37	c.1205	CCDS8284.1	11	244	0.11172161172161173	5	0.01016260162601626	53	0.1464088397790055	0	0.0	186	0.24538258575197888	G	29.5	5.013726	0.93404	0.050659	0.281228	ENSG00000077498	ENST00000263321	D	0.98234	-4.81	4.68	4.68	0.58851	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	T	0.00440	0.0014	M	0.66378	2.025	0.09310	P	0.999999826736	D	0.76494	0.999	D	0.80764	0.994	T	0.00000	-1.7609	8	.	.	.	.	17.6247	0.88091	0.0:0.0:1.0:0.0	rs62645918	402	P14679	TYRO_HUMAN	Q	402	ENSP00000263321:R402Q	.	R	+	2	0	TYR	88657609	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.499000	0.81566	2.166000	0.68216	0.555000	0.69702	CGA	TYR	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre		0.368	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	G	NM_000372		89017961	1	no_errors	ENST00000263321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89017961	G	A	89017961	3	1	38	1	0	0	0	0	1	0	0	0	16844	1058	37	1	1219	1	TYR	11	89017961	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6453667	89017961	45988555	234	5438										
C11orf54	28970	genome.wustl.edu	37	chr11	93487201	93487201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agactctcgggttcaattctGaggtcagcatatataagaaa	9	7	4	3	rs552682489	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:93487201G>C	ENST00000331239.4	+	5	507	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	C11orf54_ENST00000354421.3_Missense_Mutation_p.E110Q|C11orf54_ENST00000540113.1_Missense_Mutation_p.E91Q|C11orf54_ENST00000528288.1_Missense_Mutation_p.E110Q|C11orf54_ENST00000528099.1_Missense_Mutation_p.E110Q			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	110					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTCAATTCTGAGGTCAGCAT	0.358																																																	0													70	80	76					11																	93487201		2199	4297	6496	SO:0001583	missense	28970			AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.328G>C	11.37:g.93487201G>C	ENSP00000331209:p.Glu110Gln		A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	pfam_DUF1907	p.E110Q	ENST00000331239.4	37	c.328		11	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722281	0.68959	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	4.68	3.77	0.43336	Domain of unknown function DUF1907 (1);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.83784	0.0227	9	0.87932	D	0	-19.6741	12.7807	0.57474	0.0792:0.0:0.9208:0.0	.	110;110;110	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	Q	110;110;110;110;91;91;110;91;110;110	.	ENSP00000331209:E110Q	E	+	1	0	C11orf54	93126849	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.574000	0.90763	1.205000	0.43262	-0.218000	0.12543	GAG	C11orf54	-	pfam_DUF1907		0.358	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	C11orf54	HGNC	protein_coding	OTTHUMT00000394671.1	G	NM_014039		93487201	1	no_errors	ENST00000331239	ensembl	human	known	70_37	missense	SNP	1.000	C	C	93487201	G	C	93487201	3	2	38	1	0	0	0	0	1	0	0	0	1653	1291	45	1	342	1	C11orf54	11	93487201	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4469240	93487201	41519315	235	5439										
CEP57	9702	genome.wustl.edu	37	chr11	95564259	95564259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaaagactcttgatgaagaaAgaaacagcagcagccgttct	9	8	2	5	rs644799	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:95564259A>G	ENST00000325542.5	+	11	1580	c.1342A>G	c.(1342-1344)Aga>Gga	p.R448G	CEP57_ENST00000325486.5_Missense_Mutation_p.R422G|CEP57_ENST00000537677.1_Missense_Mutation_p.R421G|CEP57_ENST00000541150.1_Missense_Mutation_p.R439G	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	448	Mediates interaction with microtubules. {ECO:0000250}.		R -> G (in dbSNP:rs644799). {ECO:0000269|PubMed:12717444, ECO:0000269|PubMed:14702039}.		fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGATGAAGAAAGAAACAGCAG	0.373									Mosaic Variegated Aneuploidy Syndrome				G|||	1031	0.205871	0.0772	0.2363	5008	,	,		13719	0.253		0.3738	False		,,,				2504	0.137																0								G	GLY/ARG	546,3856	765.6+/-413.4	34,478,1689	56	58	58		1342	4.9	1	11	dbSNP_83	58	3286,5310	636.7+/-399.1	602,2082,1614	yes	missense	CEP57	NM_014679.4	125	636,2560,3303	GG,GA,AA		38.2271,12.4035,29.4815	benign	448/501	95564259	3832,9166	2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1342A>G	11.37:g.95564259A>G	ENSP00000317902:p.Arg448Gly		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.R448G	ENST00000325542.5	37	c.1342	CCDS8304.1	11	590|590	0.27014652014652013|0.27014652014652013	44|44	0.08943089430894309|0.08943089430894309	102|102	0.281767955801105|0.281767955801105	163|163	0.28496503496503495|0.28496503496503495	281|281	0.370712401055409|0.370712401055409	G|G	4.527|4.527	0.097865|0.097865	0.08681|0.08681	0.124035|0.124035	0.382271|0.382271	ENSG00000166037|ENSG00000166037	ENST00000535224|ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	.|T;T;T;T	.|0.30182	.|1.55;1.55;1.54;1.54	5.89|5.89	4.92|4.92	0.64577|0.64577	.|.	.|0.499946	.|0.20276	.|N	.|0.095553	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01219|0.01219	-0.95|-0.95	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.35251|0.35251	-0.9796|-0.9796	4|9	.|0.87932	.|D	.|0	-4.9723|-4.9723	6.4242|6.4242	0.21760|0.21760	0.1897:0.1507:0.6596:0.0|0.1897:0.1507:0.6596:0.0	rs644799;rs1150354;rs16922608;rs17228646;rs52796376;rs644799|rs644799;rs1150354;rs16922608;rs17228646;rs52796376;rs644799	.|439;422;448	.|F5H5F7;Q86XR8-2;Q86XR8	.|.;.;CEP57_HUMAN	R|G	237|421;448;422;439	.|ENSP00000441392:R421G;ENSP00000317902:R448G;ENSP00000317487:R422G;ENSP00000443436:R439G	.|ENSP00000317487:R422G	K|R	+|+	2|1	0|2	CEP57|CEP57	95203907|95203907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.664000|0.664000	0.39144|0.39144	1.006000|1.006000	0.29847|0.29847	1.511000|1.511000	0.48818|0.48818	-0.226000|-0.226000	0.12346|0.12346	AAG|AGA	CEP57	-	NULL		0.373	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	A	NM_014679		95564259	1	no_errors	ENST00000325542	ensembl	human	known	70_37	missense	SNP	0.986	G	G	95564259	A	G	95564259	3	3	38	1	0	0	0	0	1	0	0	0	3261	64	3	5	1384	5	CEP57	11	95564259	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	2077058	95564259	39442257	236	5440										
JRKL	8690	genome.wustl.edu	37	chr11	96125364	96125364	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccaccatcagaaataaacaGaagatgacaaagtcaagtca	7	9	3	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:96125364G>A	ENST00000332349.4	+	2	1798	c.1551G>A	c.(1549-1551)caG>caA	p.Q517Q	JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Silent_p.Q517Q|CCDC82_ENST00000525786.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	517					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAATAAACAGAAGATGACAA	0.328																																																	0													35	33	33					11																	96125364		2196	4283	6479	SO:0001819	synonymous_variant	8690			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1551G>A	11.37:g.96125364G>A			A8K3G4|B2RAJ3|Q32MC2	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.Q517	ENST00000332349.4	37	c.1551	CCDS8308.1	11																																																																																			JRKL	-	NULL		0.328	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2	G	NM_003772		96125364	1	no_errors	ENST00000332349	ensembl	human	known	70_37	silent	SNP	1.000	A	A	96125364	G	A	96125364	2	1	38	1	0	0	0	0	0	0	0	1	7985	933	33	1		1	JRKL	11	96125364	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	561105	96125364	38881152	237	5441										
TMPRSS13	84000	genome.wustl.edu	37	chr11	117789272	117789272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggcggatgatgacctgccGgatgaggacctggaaagtga	16	8	0	4	rs371192091	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr11:117789272G>A	ENST00000430170.2	-	2	390	c.303C>T	c.(301-303)tcC>tcT	p.S101S	TMPRSS13_ENST00000526090.1_Silent_p.S101S|TMPRSS13_ENST00000524993.1_Silent_p.S101S|TMPRSS13_ENST00000445164.2_Silent_p.S101S|TMPRSS13_ENST00000528626.1_Silent_p.S101S	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	101						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATGACCTGCCGGATGAGGACC	0.622													G|||	3	0.000599042	8e-04	0	5008	,	,		16905	0		0.002	False		,,,				2504	0																0								G	,,	1,4185		0,1,2092	71	83	79		303,303,303	-11.4	0	11		79	14,8400		1,12,4194	no	coding-synonymous,coding-synonymous,coding-synonymous	TMPRSS13	NM_001077263.2,NM_001206789.1,NM_001206790.1	,,	1,13,6286	AA,AG,GG		0.1664,0.0239,0.119	,,	101/568,101/533,101/492	117789272	15,12585	2093	4207	6300	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.303C>T	11.37:g.117789272G>A			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S101	ENST00000430170.2	37	c.303	CCDS58185.1	11																																																																																			TMPRSS13	-	pirsf_Peptidase_S1A_TMPRSS13		0.622	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	TMPRSS13	HGNC	protein_coding	OTTHUMT00000392318.1	G	NM_032046		117789272	-1	no_errors	ENST00000445164	ensembl	human	known	70_37	silent	SNP	0.000	A	A	117789272	G	A	117789272	2	1	38	1	0	0	0	0	0	0	0	1	16275	1103	39	2		2	TMPRSS13	11	117789272	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	21663908	117789272	17217244	238	5442										
CD27	939	genome.wustl.edu	37	chr12	6554686	6554686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctctcctgaccaccacacccGgccccactgtgagagctgtc	8	19	1	2	rs145433356		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:6554686G>A	ENST00000266557.3	+	2	462	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	78					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CACCACACCCGGCCCCACTGT	0.587																																																	0								G	GLN/ARG	0,4406		0,0,2203	58	50	53		233	3.5	1	12	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	missense	CD27	NM_001242.4	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	78/261	6554686	3,13003	2203	4300	6503	SO:0001583	missense	939			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.233G>A	12.37:g.6554686G>A	ENSP00000266557:p.Arg78Gln		B2RDZ0	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.R78Q	ENST00000266557.3	37	c.233	CCDS8545.1	12	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204377	0.38905	0.0	3.49E-4	ENSG00000139193	ENST00000266557	D	0.94046	-3.34	4.54	3.55	0.40652	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.869937	0.09808	N	0.753189	D	0.83275	0.5219	N	0.20986	0.625	0.34962	D	0.752324	P	0.44478	0.836	B	0.29716	0.106	T	0.82026	-0.0661	10	0.23891	T	0.37	-17.2499	6.686	0.23146	0.1311:0.0:0.8689:0.0	.	78	P26842	CD27_HUMAN	Q	78	ENSP00000266557:R78Q	ENSP00000266557:R78Q	R	+	2	0	CD27	6424947	0.998000	0.40836	1.000000	0.80357	0.703000	0.40648	2.768000	0.47645	2.359000	0.80004	0.563000	0.77884	CGG	CD27	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.587	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1	G			6554686	1	no_errors	ENST00000266557	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6554686	G	A	6554686	3	1	38	1	0	0	0	0	1	0	0	0	2995	1116	39	2	239	2	CD27	12	6554686	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		6554686	127297209	239	5443										
PIK3C2G	5288	genome.wustl.edu	37	chr12	18658367	18658367	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	actttggaaaattcttaggtCatgcacaaacatttggaggg	10	6	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:18658367C>T	ENST00000266497.5	+	22	3210	c.3172C>T	c.(3172-3174)Cat>Tat	p.H1058Y	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.H1058Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.H1099Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1058	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTCTTAGGTCATGCACAAAC	0.368																																																	0													76	69	71					12																	18658367		1886	4133	6019	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3172C>T	12.37:g.18658367C>T	ENSP00000266497:p.His1058Tyr		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.H1099Y	ENST00000266497.5	37	c.3295	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054148	0.75960	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.80909	-1.43;-1.43;-1.43	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.193790	0.44483	D	0.000446	D	0.90082	0.6902	M	0.80508	2.5	0.48395	D	0.99964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.966;0.98	D	0.90823	0.4710	10	0.72032	D	0.01	-21.3692	18.194	0.89815	0.0:1.0:0.0:0.0	.	1098;1099;1058	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Y	1058;1058;1099	ENSP00000404845:H1058Y;ENSP00000266497:H1058Y;ENSP00000445381:H1099Y	ENSP00000266497:H1058Y	H	+	1	0	PIK3C2G	18549634	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.767000	0.62286	2.771000	0.95319	0.650000	0.86243	CAT	PIK3C2G	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	C	NM_004570		18658367	1	no_errors	ENST00000538779	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18658367	C	T	18658367	3	4	38	1	0	0	0	0	1	0	0	0	11935	826	29	1	3258	1	PIK3C2G	12	18658367	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	12103681	18658367	115193528	240	5444										
LST-3TM12	338821	genome.wustl.edu	37	chr12	21229400	21229400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgcaggaggtattctagttCcaatatattttggggctctg	11	6	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:21229400C>T	ENST00000421593.2	+	12	1621	c.1621C>T	c.(1621-1623)Cca>Tca	p.P541S	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P649S|LST3_ENST00000540229.1_Missense_Mutation_p.P649S|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.P588S|LST3_ENST00000381541.3_Missense_Mutation_p.P588S|RP11-125O5.2_ENST00000590779.1_Silent_p.F41F	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	541						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TATTCTAGTTCCAATATATTT	0.368																																																	0													168	175	173					12																	21229400		2203	4300	6503	SO:0001583	missense	28234			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1621C>T	12.37:g.21229400C>T	ENSP00000394168:p.Pro541Ser		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P649S	ENST00000421593.2	37	c.1945	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	13.34	2.207923	0.39003	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	D;T;D;T;T;T	0.82984	-1.67;0.31;-1.67;0.31;0.31;0.31	2.4	2.4	0.29515	.	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	M	0.89658	3.05	0.44539	D	0.997495	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.994;0.99;0.999	D	0.91468	0.5194	10	0.87932	D	0	.	9.9439	0.41598	0.0:1.0:0.0:0.0	.	541;588;649	G3V0H7;F5H094;Q5JAR4	.;.;.	S	649;588;649;588;541;50	ENSP00000451758:P649S;ENSP00000370952:P588S;ENSP00000441269:P649S;ENSP00000452013:P588S;ENSP00000394168:P541S;ENSP00000439857:P50S	ENSP00000370952:P588S	P	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120667	0.996000	0.38824	1.000000	0.80357	0.332000	0.28634	5.274000	0.65569	1.322000	0.45245	0.205000	0.17691	CCA	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt		0.368	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000402066.1	C	NM_001009562		21229400	1	no_errors	ENST00000553473	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21229400	C	T	21229400	3	4	38	1	0	0	0	0	1	0	0	0	9089	855	30	1	1667	1	LST-3TM12	12	21229400	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2571033	21229400	112622495	241	5445										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43896176	43896176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	attcatgttgctgtaggtatGaaagggtaaactggtttcct	11	5	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:43896176G>C	ENST00000389420.3	-	4	645	c.646C>G	c.(646-648)Cat>Gat	p.H216D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H216D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	216					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGTAGGTATGAAAGGGTAAA	0.313																																																	0													145	161	156					12																	43896176		2203	4299	6502	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.646C>G	12.37:g.43896176G>C	ENSP00000374071:p.His216Asp		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.H216D	ENST00000389420.3	37	c.646	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202069	0.01581	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61392	0.29;0.11	4.66	2.79	0.32731	.	0.667620	0.13709	N	0.368207	T	0.39036	0.1063	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.20840	-1.0263	10	0.12430	T	0.62	.	9.6377	0.39819	0.075:0.0:0.7833:0.1418	.	216	P59510	ATS20_HUMAN	D	216	ENSP00000374071:H216D;ENSP00000448341:H216D	ENSP00000374068:H216D	H	-	1	0	ADAMTS20	42182443	1.000000	0.71417	0.015000	0.15790	0.172000	0.22775	2.576000	0.46033	0.638000	0.30545	0.655000	0.94253	CAT	ADAMTS20	-	NULL		0.313	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	G	NM_025003		43896176	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	0.376	C	C	43896176	G	C	43896176	3	2	38	1	0	0	0	0	1	0	0	0	266	1290	45	1	5229	1	ADAMTS20	12	43896176	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	22666776	43896176	89955719	242	5446										
C12orf68	387856	genome.wustl.edu	37	chr12	48578442	48578442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccacttgtggagcccctcgaCatgcccgacattaccctgct	8	17	0	0	rs73304926	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:48578442C>T	ENST00000316554.3	+	1	1077	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		179						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						AGCCCCTCGACATGCCCGACA	0.667													C|||	839	0.167532	0.2519	0.1081	5008	,	,		15948	0.1399		0.16	False		,,,				2504	0.1319																0								C		1027,3335		123,781,1277	10	9	10		537	-4.2	0.4	12	dbSNP_130	10	1163,7373		66,1031,3171	no	coding-synonymous	C12orf68	NM_001013635.3		189,1812,4448	TT,TC,CC		13.6246,23.5442,16.9794		179/195	48578442	2190,10708	2181	4268	6449	SO:0001819	synonymous_variant	387856																														ENST00000316554.3:c.537C>T	12.37:g.48578442C>T			Q96MK5|Q96N39	Silent	SNP	NULL	p.D179	ENST00000316554.3	37	c.537	CCDS31785.1	12																																																																																			C12orf68	-	NULL		0.667	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	C			48578442	1	no_errors	ENST00000316554	ensembl	human	known	70_37	silent	SNP	0.794	T	T	48578442	C	T	48578442	2	4	38	1	0	0	0	0	0	0	0	1	1714	477	17	4		4	C12orf68	12	48578442	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4682266	48578442	85273453	243	5447										
MLL2	8085	genome.wustl.edu	37	chr12	49425449	49425449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cggctccaaggttggcccctGaggtttgggggtccctggat	16	11	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:49425449G>A	ENST00000301067.7	-	39	13038	c.13039C>T	c.(13039-13041)Cag>Tag	p.Q4347*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4347	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTTGGCCCCTGAGGTTTGGGG	0.622																																																	0													22	23	22					12																	49425449		1887	4110	5997	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13039C>T	12.37:g.49425449G>A	ENSP00000301067:p.Gln4347*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q4347*	ENST00000301067.7	37	c.13039	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	52	19.374241	0.99918	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.73	4.73	0.59995	.	0.307321	0.18779	N	0.131386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.6208	0.51117	0.0891:0.0:0.9109:0.0	.	.	.	.	X	4347	.	ENSP00000301067:Q4347X	Q	-	1	0	MLL2	47711716	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	4.689000	0.61723	2.572000	0.86782	0.655000	0.94253	CAG	MLL2	-	NULL		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49425449	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	0.992	A	A	49425449	G	A	49425449	4	1	38	1	0	0	0	0	0	1	0	0	9644	1299	45	1	3638	1	MLL2	12	49425449	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	847007	49425449	84426446	244	5448										
SPATS2	65244	genome.wustl.edu	37	chr12	49919880	49919880	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggtatcagagtgctccatctCaggcaccaggaaacaccatt	9	12	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:49919880C>T	ENST00000553127.1	+	15	1993	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	SPATS2_ENST00000552918.1_Nonsense_Mutation_p.Q494*|SPATS2_ENST00000321898.6_Nonsense_Mutation_p.Q494*			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	494						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGCTCCATCTCAGGCACCAGG	0.537																																																	0													145	121	129					12																	49919880		2203	4300	6503	SO:0001587	stop_gained	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1480C>T	12.37:g.49919880C>T	ENSP00000448228:p.Gln494*		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Nonsense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.Q494*	ENST00000553127.1	37	c.1480	CCDS31794.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.735190	0.97801	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	4.26	4.26	0.50523	.	0.372397	0.27886	N	0.017457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-4.6443	15.0587	0.71936	0.0:1.0:0.0:0.0	.	.	.	.	X	494	.	ENSP00000326841:Q494X	Q	+	1	0	SPATS2	48206147	0.687000	0.27671	0.925000	0.36789	0.892000	0.51952	4.387000	0.59626	2.690000	0.91761	0.579000	0.79373	CAG	SPATS2	-	NULL		0.537	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1	C	NM_023071		49919880	1	no_errors	ENST00000321898	ensembl	human	known	70_37	nonsense	SNP	0.886	T	T	49919880	C	T	49919880	4	4	38	1	0	0	0	0	0	1	0	0	15049	827	29	1	1526	1	SPATS2	12	49919880	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	494431	49919880	83932015	245	5449										
CSRNP2	81566	genome.wustl.edu	37	chr12	51458056	51458056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaggcctgggcacagctcttCggggacagccagaggctcct	14	13	1	1	rs377254873		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:51458056C>T	ENST00000228515.1	-	5	1402	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	369					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CACAGCTCTTCGGGGACAGCC	0.602																																																	0								C	LYS/GLU	0,4406		0,0,2203	61	67	65		1105	3	0.5	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSRNP2	NM_030809.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	369/544	51458056	1,13005	2203	4300	6503	SO:0001583	missense	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1105G>A	12.37:g.51458056C>T	ENSP00000228515:p.Glu369Lys			Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.E369K	ENST00000228515.1	37	c.1105	CCDS8807.1	12	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111915	0.37242	0.0	1.16E-4	ENSG00000110925	ENST00000228515	T	0.47869	0.83	4.91	2.97	0.34412	.	0.374313	0.24801	N	0.035493	T	0.24470	0.0593	N	0.08118	0	0.22610	N	0.998938	B	0.15719	0.014	B	0.09377	0.004	T	0.14615	-1.0466	10	0.27785	T	0.31	-9.6472	8.9332	0.35684	0.1632:0.6674:0.1694:0.0	.	369	Q9H175	CSRN2_HUMAN	K	369	ENSP00000228515:E369K	ENSP00000228515:E369K	E	-	1	0	CSRNP2	49744323	0.003000	0.15002	0.528000	0.27938	0.972000	0.66771	0.451000	0.21779	0.705000	0.31890	0.555000	0.69702	GAA	CSRNP2	-	NULL		0.602	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP2	HGNC	protein_coding	OTTHUMT00000404893.1	C			51458056	-1	no_errors	ENST00000228515	ensembl	human	known	70_37	missense	SNP	0.641	T	T	51458056	C	T	51458056	3	4	38	1	0	0	0	0	1	0	0	0	3969	893	31	1	530	1	CSRNP2	12	51458056	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1538176	51458056	82393839	246	5450										
BIN2	51411	genome.wustl.edu	37	chr12	51690891	51690891	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	accttgctcatttccctgtaGaagacatccctcaagttgga	7	12	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:51690891G>C	ENST00000267012.4	-	8	721	c.660C>G	c.(658-660)ttC>ttG	p.F220L	BIN2_ENST00000544402.1_Missense_Mutation_p.F194L|BIN2_ENST00000452142.2_Missense_Mutation_p.F188L|BIN2_ENST00000604560.1_Missense_Mutation_p.F193L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	220	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTCCCTGTAGAAGACATCCC	0.423																																																	0													119	102	108					12																	51690891		2203	4300	6503	SO:0001583	missense	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.660C>G	12.37:g.51690891G>C	ENSP00000267012:p.Phe220Leu		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.F220L	ENST00000267012.4	37	c.660	CCDS8811.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171047	0.78452	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.68765	-0.35;-0.35;-0.35	4.78	4.78	0.61160	BAR (3);	0.000000	0.85682	D	0.000000	D	0.83459	0.5259	M	0.85462	2.755	0.45791	D	0.998676	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.85462	0.1167	10	0.56958	D	0.05	-8.7803	17.1221	0.86705	0.0:0.0:1.0:0.0	.	194;188;220	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	L	188;220;194	ENSP00000410217:F188L;ENSP00000267012:F220L;ENSP00000445874:F194L	ENSP00000267012:F220L	F	-	3	2	BIN2	49977158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.046000	0.57376	2.650000	0.89964	0.557000	0.71058	TTC	BIN2	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.423	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	G			51690891	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51690891	G	C	51690891	3	2	38	1	0	0	0	0	1	0	0	0	1434	933	33	1	1061	1	BIN2	12	51690891	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	232835	51690891	82161004	247	5451										
KRT1	3848	genome.wustl.edu	37	chr12	53069235	53069235	+	Silent	SNP	G	G	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tagctgccacctccggagccGtagctgctacctccggagcc					rs540699806|rs11170232|rs267607656	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:53069235G>A	ENST00000252244.3	-	9	1735	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	559	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctccggagccgtagctgctac	0.682													G|||	2135	0.426318	0.4947	0.4424	5008	,	,		8632	0.2411		0.4523	False		,,,				2504	0.4867																0													4	5	4					12																	53069235		1823	3683	5506	SO:0001819	synonymous_variant	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1677C>T	12.37:g.53069235G>A			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.Y559	ENST00000252244.3	37	c.1677	CCDS8836.1	12																																																																																			KRT1	-	NULL		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	G	NM_006121		53069235	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	silent	SNP	0.007	A	A	53069235	G	A	53069235	2	1	38	1	0	0	0	0	0	0	0	1	8467	1140	40	2		2	KRT1	12	53069235	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1378344	53069235	80782660	248	5452	27	2								
KRT1	3848	genome.wustl.edu	37	chr12	53069243	53069243	+	Missense_Mutation	SNP	T	T	C													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acctccggagccgtagctgcTacctccggagccatagctgc					rs77846840|rs540699806|rs267607656	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:53069243T>C	ENST00000252244.3	-	9	1727	c.1669A>G	c.(1669-1671)Agc>Ggc	p.S557G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	557	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccgtagctgctacctccggag	0.682																																																	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)											4	4	4					12																	53069243		1805	3566	5371	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1669A>G	12.37:g.53069243T>C	ENSP00000252244:p.Ser557Gly		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S557G	ENST00000252244.3	37	c.1669	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	t	12.77	2.037794	0.35989	.	.	ENSG00000167768	ENST00000252244	T	0.81247	-1.47	3.63	0.628	0.17681	.	.	.	.	.	T	0.54711	0.1875	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	8	0.07644	T	0.81	.	5.639	0.17552	0.0:0.6406:0.1602:0.1993	.	557	P04264	K2C1_HUMAN	G	557	ENSP00000252244:S557G	ENSP00000252244:S557G	S	-	1	0	KRT1	51355510	0.000000	0.05858	0.034000	0.17996	0.201000	0.24016	-0.192000	0.09587	-0.104000	0.12154	-1.598000	0.00824	AGC	KRT1	-	NULL		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	T	NM_006121		53069243	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	0.300	C	C	53069243	T	C	53069243	3	2	38	1	0	0	0	0	1	0	0	0	8467	1522	53	5	269	5	KRT1	12	53069243	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	8	53069243	80782652	249	5453	27	2								
HOXC13	3229	genome.wustl.edu	37	chr12	54333242	54333242	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttcgccagctcctaccaggcGatgcccggctacctggacgt	11	16	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:54333242G>A	ENST00000243056.3	+	1	708	c.552G>A	c.(550-552)gcG>gcA	p.A184A	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	184					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCTACCAGGCGATGCCCGGCT	0.682			T	NUP98	AML																																			Dom	yes		12	12q13.3	3229	homeo box C13		L	0													20	21	21					12																	54333242		2197	4293	6490	SO:0001819	synonymous_variant	3229				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.552G>A	12.37:g.54333242G>A			Q5BL02|Q96J32|Q9NR24|Q9NYD5	Silent	SNP	pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A184	ENST00000243056.3	37	c.552	CCDS8865.1	12																																																																																			HOXC13	-	NULL		0.682	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC13	HGNC	protein_coding	OTTHUMT00000358865.2	G			54333242	1	no_errors	ENST00000243056	ensembl	human	known	70_37	silent	SNP	0.995	A	A	54333242	G	A	54333242	2	1	38	1	0	0	0	0	0	0	0	1	7332	1045	37	1		1	HOXC13	12	54333242	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1263999	54333242	79518653	250	5454										
ORMDL2	29095	genome.wustl.edu	37	chr12	56214128	56214128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgctaagtgtactgctgccGaagttgccccagttccatgg	11	11	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:56214128G>A	ENST00000243045.5	+	4	606	c.411G>A	c.(409-411)ccG>ccA	p.P137P	ORMDL2_ENST00000548974.1_Silent_p.P137P|SARNP_ENST00000336133.3_5'Flank|SARNP_ENST00000552080.1_5'Flank|ORMDL2_ENST00000550836.1_Silent_p.P49P|ORMDL2_ENST00000552672.1_Silent_p.P103P|SARNP_ENST00000444631.2_5'Flank|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	137					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						TACTGCTGCCGAAGTTGCCCC	0.507																																																	0													242	209	220					12																	56214128		2203	4300	6503	SO:0001819	synonymous_variant	29095			AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"ORM1 (S. cerevisiae)-like 2", "ORM1-like 2 (S. cerevisiae)"			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.411G>A	12.37:g.56214128G>A			B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Silent	SNP	pfam_ORMDL,pirsf_ORMDL	p.P137	ENST00000243045.5	37	c.411	CCDS8893.1	12																																																																																			ORMDL2	-	pfam_ORMDL,pirsf_ORMDL		0.507	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORMDL2	HGNC	protein_coding	OTTHUMT00000407934.1	G	NM_014182		56214128	1	no_errors	ENST00000243045	ensembl	human	known	70_37	silent	SNP	0.765	A	A	56214128	G	A	56214128	2	1	38	1	0	0	0	0	0	0	0	1	11294	1045	37	1		1	ORMDL2	12	56214128	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1880886	56214128	77637767	251	5455										
INHBC	3626	genome.wustl.edu	37	chr12	57843668	57843668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttctcaaggccaacacagctGcaggcaccactggagggggc	13	13	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:57843668G>T	ENST00000309668.2	+	2	1049	c.922G>T	c.(922-924)Gca>Tca	p.A308S		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	308					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CAACACAGCTGCAGGCACCAC	0.562																																																	0													69	63	65					12																	57843668		2203	4300	6503	SO:0001583	missense	3626				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.922G>T	12.37:g.57843668G>T	ENSP00000308716:p.Ala308Ser		A1L3Y2	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.A308S	ENST00000309668.2	37	c.922	CCDS8938.1	12	.	.	.	.	.	.	.	.	.	.	G	4.966	0.179422	0.09443	.	.	ENSG00000175189	ENST00000309668	D	0.83506	-1.73	4.1	-0.276	0.12902	Transforming growth factor-beta, C-terminal (3);	0.986824	0.08286	N	0.969209	T	0.63570	0.2522	N	0.11756	0.17	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45833	-0.9234	9	.	.	.	0.6254	3.914	0.09214	0.2809:0.0:0.4453:0.2738	.	308	P55103	INHBC_HUMAN	S	308	ENSP00000308716:A308S	.	A	+	1	0	INHBC	56129935	0.000000	0.05858	0.002000	0.10522	0.988000	0.76386	-0.079000	0.11357	-0.043000	0.13513	0.655000	0.94253	GCA	INHBC	-	pfam_TGF-b_C,smart_TGF-b_C		0.562	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	HGNC	protein_coding	OTTHUMT00000406770.1	G	NM_005538		57843668	1	no_errors	ENST00000309668	ensembl	human	known	70_37	missense	SNP	0.003	T	T	57843668	G	T	57843668	3	4	38	1	0	0	0	0	1	0	0	0	7763	1319	46	4	928	4	INHBC	12	57843668	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1629540	57843668	76008227	252	5456										
SRGAP1	57522	genome.wustl.edu	37	chr12	64491142	64491142	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaggaaagatttaacgatctGatttcttgtatcagtaagtg	9	4	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:64491142G>A	ENST00000355086.3	+	15	2324	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SRGAP1_ENST00000357825.3_Silent_p.L577L|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.L537L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	600	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTAACGATCTGATTTCTTGTA	0.423																																																	0													86	83	84					12																	64491142		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1800G>A	12.37:g.64491142G>A			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L600	ENST00000355086.3	37	c.1800	CCDS8967.1	12																																																																																			SRGAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.423	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64491142	1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64491142	G	A	64491142	2	1	38	1	0	0	0	0	0	0	0	1	15175	1277	45	1		1	SRGAP1	12	64491142	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6647474	64491142	69360753	253	5457										
GNS	2799	genome.wustl.edu	37	chr12	65146511	65146511	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtcatccccatctctccgatGagagctttggttttctttag	8	11	3	1	rs376829383		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:65146511G>A	ENST00000258145.3	-	2	389	c.219C>T	c.(217-219)ctC>ctT	p.L73L	GNS_ENST00000543646.1_Silent_p.L105L|GNS_ENST00000542058.1_Intron|GNS_ENST00000418919.2_Silent_p.L17L	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	73					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TCTCTCCGATGAGAGCTTTGG	0.333																																																	0													62	63	63					12																	65146511		2203	4300	6503	SO:0001819	synonymous_variant	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.219C>T	12.37:g.65146511G>A			B4DYH8|Q53F05	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.L73	ENST00000258145.3	37	c.219	CCDS8970.1	12																																																																																			GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.333	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	G			65146511	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	silent	SNP	0.984	A	A	65146511	G	A	65146511	2	1	38	1	0	0	0	0	0	0	0	1	6569	1277	45	1		1	GNS	12	65146511	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	655369	65146511	68705384	254	5458										
MYBPC1	4604	genome.wustl.edu	37	chr12	102045046	102045046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgacacctctgactgatcaGactgtaaatcttggaaaaga	8	8	3	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:102045046G>C	ENST00000550270.1	+	14	1326	c.1326G>C	c.(1324-1326)caG>caC	p.Q442H	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.Q416H|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.Q442H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.Q429H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.Q442H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.Q467H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.Q423H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.Q430H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.Q442H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.Q442H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.Q467H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.Q343H|MYBPC1_ENST00000549145.1_Missense_Mutation_p.Q455H|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Missense_Mutation_p.Q442H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.Q428H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	442	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGACTGATCAGACTGTAAATC	0.433																																																	0													135	140	138					12																	102045046		2203	4300	6503	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1326G>C	12.37:g.102045046G>C	ENSP00000449702:p.Gln442His		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q467H	ENST00000550270.1	37	c.1401	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495438	0.64186	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.55	0.208	0.15221	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.619515	0.13382	N	0.392058	T	0.67277	0.2876	L	0.61387	1.9	0.34346	D	0.689366	P;P;B;P;B;B;P;P;B;P;P	0.39071	0.658;0.658;0.446;0.658;0.431;0.431;0.606;0.658;0.392;0.606;0.606	P;P;P;P;P;P;P;P;B;P;P	0.50314	0.617;0.549;0.637;0.549;0.617;0.617;0.482;0.617;0.382;0.482;0.482	T	0.72228	-0.4354	10	0.72032	D	0.01	.	2.7499	0.05277	0.2069:0.2135:0.4662:0.1133	.	423;430;442;442;429;416;442;442;467;467;455	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	H	416;442;442;442;429;428;467;455;442;467;442;423;430;467;343;442	ENSP00000448175:Q416H;ENSP00000400908:Q442H;ENSP00000388989:Q442H;ENSP00000353822:Q442H;ENSP00000376665:Q429H;ENSP00000447362:Q428H;ENSP00000354845:Q467H;ENSP00000447660:Q455H;ENSP00000447900:Q442H;ENSP00000440034:Q442H;ENSP00000446128:Q423H;ENSP00000442847:Q430H;ENSP00000354849:Q467H;ENSP00000447116:Q343H;ENSP00000449702:Q442H	ENSP00000353822:Q442H	Q	+	3	2	MYBPC1	100569177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.472000	0.35376	0.717000	0.32145	0.655000	0.94253	CAG	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub		0.433	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	G			102045046	1	no_errors	ENST00000361466	ensembl	human	known	70_37	missense	SNP	0.756	C	C	102045046	G	C	102045046	3	2	38	1	0	0	0	0	1	0	0	0	10034	933	33	1	1463	1	MYBPC1	12	102045046	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	36898535	102045046	31806849	255	5459										
PWP1	11137	genome.wustl.edu	37	chr12	108082489	108082489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacgcccaagagagcccctgGaggatggtgacccagaggat	14	12	0	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:108082489G>A	ENST00000412830.3	+	3	397	c.229G>A	c.(229-231)Gag>Aag	p.E77K	PWP1_ENST00000541166.1_Missense_Mutation_p.E15K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	77					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						AGAGCCCCTGGAGGATGGTGA	0.522																																																	0													128	119	122					12																	108082489		2203	4300	6503	SO:0001583	missense	11137			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.229G>A	12.37:g.108082489G>A	ENSP00000387365:p.Glu77Lys		A8K3R6|Q7Z3X9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E77K	ENST00000412830.3	37	c.229	CCDS9114.1	12	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504500	0.26949	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70516	-0.45;-0.49	5.82	4.86	0.63082	.	0.602245	0.17545	N	0.170392	T	0.54498	0.1862	L	0.28014	0.82	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.36040	-0.9764	10	0.23302	T	0.38	.	10.3032	0.43665	0.0:0.1346:0.7113:0.1541	.	77	Q13610	PWP1_HUMAN	K	77;15;77;77;77;15	ENSP00000387365:E77K;ENSP00000445249:E15K	ENSP00000258531:E77K	E	+	1	0	PWP1	106606619	0.945000	0.32115	0.996000	0.52242	0.964000	0.63967	1.534000	0.36051	2.742000	0.94016	0.579000	0.79373	GAG	PWP1	-	NULL		0.522	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP1	HGNC	protein_coding	OTTHUMT00000406539.1	G	NM_007062		108082489	1	no_errors	ENST00000412830	ensembl	human	known	70_37	missense	SNP	0.002	A	A	108082489	G	A	108082489	3	1	38	1	0	0	0	0	1	0	0	0	12873	1175	41	1	239	1	PWP1	12	108082489	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6037443	108082489	25769406	256	5460										
ASCL4	121549	genome.wustl.edu	37	chr12	108169152	108169152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctgggagtgggcgcgcagcGgctgcgcacggggatggcag	22	10	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:108169152G>A	ENST00000342331.4	+	1	991	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	53					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GGCGCGCAGCGGCTGCGCACG	0.761																																					GBM(170;776 3695 11650)												0													7	10	9					12																	108169152		2069	4040	6109	SO:0001583	missense	121549			AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.160G>A	12.37:g.108169152G>A	ENSP00000345420:p.Gly54Ser		Q7RTS2	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G54S	ENST00000342331.4	37	c.160	CCDS31894.2	12	.	.	.	.	.	.	.	.	.	.	G	9.567	1.120020	0.20877	.	.	ENSG00000187855	ENST00000342331	D	0.97186	-4.28	3.71	1.82	0.25136	.	0.516920	0.18061	N	0.152938	D	0.91392	0.7284	L	0.29908	0.895	0.09310	N	1	P	0.35872	0.525	B	0.28638	0.092	D	0.83467	0.0057	10	0.30854	T	0.27	-22.8226	7.954	0.30031	0.1982:0.0:0.8018:0.0	.	53	Q6XD76	ASCL4_HUMAN	S	54	ENSP00000345420:G54S	ENSP00000345420:G54S	G	+	1	0	ASCL4	106693282	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.080000	0.14802	0.176000	0.19873	0.484000	0.47621	GGC	ASCL4	-	NULL		0.761	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCL4	HGNC	protein_coding	OTTHUMT00000346845.1	G	NM_203436		108169152	1	no_errors	ENST00000342331	ensembl	human	known	70_37	missense	SNP	0.001	A	A	108169152	G	A	108169152	3	1	38	1	0	0	0	0	1	0	0	0	1037	1116	39	2	162	2	ASCL4	12	108169152	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	86663	108169152	25682743	257	5461										
UBC	7316	genome.wustl.edu	37	chr12	125397061	125397061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcaaagatcaacctctgctgGtcaggagggatgccttcctt	11	11	3	1	rs17840844	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:125397061G>A	ENST00000536769.1	-	1	2833	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D	UBC_ENST00000339647.5_Silent_p.D419D|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.D343D|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	419	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCTCTGCTGGTCAGGAGGGA	0.537													G|||	1838	0.367013	0.1657	0.4308	5008	,	,		31861	0.2103		0.5686	False		,,,				2504	0.5481																0													54	52	53					12																	125397061		2150	4211	6361	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1257C>T	12.37:g.125397061G>A			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.D419	ENST00000536769.1	37	c.1257	CCDS9260.1	12																																																																																			UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.537	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	G	NM_021009		125397061	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	silent	SNP	1.000	A	A	125397061	G	A	125397061	2	1	38	1	0	0	0	0	0	0	0	1	16873	1252	44	4		4	UBC	12	125397061	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	17227909	125397061	8454834	258	5462										
AACS	65985	genome.wustl.edu	37	chr12	125561151	125561151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgacagagttgccctttacAttgcaagtaagtcctgatgg	10	8	0	3	rs11549081	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:125561151A>G	ENST00000316519.6	+	3	558	c.352A>G	c.(352-354)Att>Gtt	p.I118V	AACS_ENST00000261686.6_Missense_Mutation_p.I118V	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	118			I -> V (in dbSNP:rs12831803). {ECO:0000269|PubMed:15489334}.		adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCCCTTTACATTGCAAGTAA	0.493													G|||	1105	0.220647	0.3548	0.1888	5008	,	,		20430	0.1171		0.1441	False		,,,				2504	0.2474																0								A	VAL/ILE	1292,3114	439.6+/-345.7	198,896,1109	111	107	109		352	3.4	0	12	dbSNP_121	109	1229,7371	245.7+/-274.4	102,1025,3173	yes	missense	AACS	NM_023928.3	29	300,1921,4282	GG,GA,AA		14.2907,29.3236,19.3834	benign	118/673	125561151	2521,10485	2203	4300	6503	SO:0001583	missense	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.352A>G	12.37:g.125561151A>G	ENSP00000324842:p.Ile118Val		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.I118V	ENST00000316519.6	37	c.352	CCDS9263.1	12	406	0.1858974358974359	167	0.3394308943089431	65	0.17955801104972377	78	0.13636363636363635	96	0.1266490765171504	a	0.149	-1.093357	0.01858	0.293236	0.142907	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	T;T;T	0.10192	2.9;2.91;2.9	5.27	3.44	0.39384	.	0.251297	0.38548	N	0.001649	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47328	-0.9126	9	0.10636	T	0.68	.	6.2699	0.20949	0.1585:0.0:0.6938:0.1477	rs12831803;rs17854015;rs61595606;rs12831803	118;118	Q86V21-2;Q86V21	.;AACS_HUMAN	V	118	ENSP00000324842:I118V;ENSP00000442691:I118V;ENSP00000261686:I118V	ENSP00000261686:I118V	I	+	1	0	AACS	124127104	1.000000	0.71417	0.003000	0.11579	0.009000	0.06853	5.025000	0.64097	0.720000	0.32209	-0.221000	0.12465	ATT	AACS	-	tigrfam_Acac_CoA_synth		0.493	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	A	NM_023928		125561151	1	no_errors	ENST00000316519	ensembl	human	known	70_37	missense	SNP	0.784	G	G	125561151	A	G	125561151	3	3	38	1	0	0	0	0	1	0	0	0	9	217	8	5	362	5	AACS	12	125561151	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	164090	125561151	8290744	259	5463										
AACS	65985	genome.wustl.edu	37	chr12	125603260	125603260	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	catggtcttgtacgatggctCccccctggtgcccacgccca	10	17	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr12:125603260C>G	ENST00000316519.6	+	10	1276	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C	AACS_ENST00000261686.6_Missense_Mutation_p.S357C|AACS_ENST00000545511.1_5'Flank|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	357					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TACGATGGCTCCCCCCTGGTG	0.597																																																	0													78	67	71					12																	125603260		2203	4300	6503	SO:0001583	missense	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1070C>G	12.37:g.125603260C>G	ENSP00000324842:p.Ser357Cys		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.S357C	ENST00000316519.6	37	c.1070	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112754	0.77210	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000441247;ENST00000538851	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.72	4.72	0.59763	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.87547	2.89	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.55345	0.664;0.774	T	0.74297	-0.3711	10	0.87932	D	0	.	17.7744	0.88503	0.0:1.0:0.0:0.0	.	357;357	Q86V21-2;Q86V21	.;AACS_HUMAN	C	357;357;213;176;22	ENSP00000324842:S357C;ENSP00000261686:S357C;ENSP00000392967:S176C;ENSP00000441686:S22C	ENSP00000261686:S357C	S	+	2	0	AACS	124169213	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.171000	0.77595	2.181000	0.69327	0.461000	0.40582	TCC	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	C	NM_023928		125603260	1	no_errors	ENST00000316519	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125603260	C	G	125603260	3	3	38	1	0	0	0	0	1	0	0	0	9	855	30	1	1108	1	AACS	12	125603260	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	42109	125603260	8248635	260	5464										
XPO4	64328	genome.wustl.edu	37	chr13	21358048	21358048	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtaatgtttcgaccagttcaGaatattcagcctattgaaga	8	7	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr13:21358048G>A	ENST00000255305.6	-	23	3340	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	XPO4_ENST00000400602.2_Missense_Mutation_p.S1090F			Q9C0E2	XPO4_HUMAN	exportin 4	1090					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GACCAGTTCAGAATATTCAGC	0.398																																																	0													92	83	86					13																	21358048		1931	4153	6084	SO:0001583	missense	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3269C>T	13.37:g.21358048G>A	ENSP00000255305:p.Ser1090Phe		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1090F	ENST00000255305.6	37	c.3269	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238076	0.58886	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.68331	-0.32;-0.32	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.128293	0.56097	D	0.000038	T	0.66752	0.2821	L	0.34521	1.04	0.80722	D	1	B	0.30361	0.277	B	0.40285	0.325	T	0.65047	-0.6263	10	0.52906	T	0.07	-6.3297	19.9915	0.97366	0.0:0.0:1.0:0.0	.	1090	Q9C0E2	XPO4_HUMAN	F	1090	ENSP00000383444:S1090F;ENSP00000255305:S1090F	ENSP00000255305:S1090F	S	-	2	0	XPO4	20256048	1.000000	0.71417	0.897000	0.35233	0.701000	0.40568	9.467000	0.97671	2.723000	0.93209	0.655000	0.94253	TCT	XPO4	-	superfamily_ARM-type_fold		0.398	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	G	NM_022459		21358048	-1	no_errors	ENST00000255305	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21358048	G	A	21358048	3	1	38	1	0	0	0	0	1	0	0	0	17477	942	33	1	190	1	XPO4	13	21358048	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		21358048	93811830	261	5465										
SPG20	23111	genome.wustl.edu	37	chr13	36909405	36909405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaaactccccagaatctgttCcataggatacagtgtagtga	8	9	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr13:36909405C>T	ENST00000451493.1	-	2	780	c.563G>A	c.(562-564)gGa>gAa	p.G188E	SPG20_ENST00000438666.2_Missense_Mutation_p.G188E|SPG20_ENST00000355182.4_Missense_Mutation_p.G188E|SPG20_ENST00000494062.2_Missense_Mutation_p.G188E|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	188					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGAATCTGTTCCATAGGATAC	0.473																																																	0													63	62	62					13																	36909405		2203	4300	6503	SO:0001583	missense	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.563G>A	13.37:g.36909405C>T	ENSP00000414147:p.Gly188Glu		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.G188E	ENST00000451493.1	37	c.563	CCDS9356.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.112568	0.94339	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.93366	-3.21;-3.21;-3.21	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.96371	0.8816	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94903	0.8058	10	0.37606	T	0.19	-27.5733	20.4192	0.99033	0.0:1.0:0.0:0.0	.	188;188;188	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	E	188	ENSP00000406061:G188E;ENSP00000347314:G188E;ENSP00000414147:G188E	ENSP00000347314:G188E	G	-	2	0	SPG20	35807405	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	6.935000	0.75886	2.831000	0.97527	0.650000	0.86243	GGA	SPG20	-	NULL		0.473	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	C			36909405	-1	no_errors	ENST00000355182	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36909405	C	T	36909405	3	4	38	1	0	0	0	0	1	0	0	0	15072	855	30	1	1469	1	SPG20	13	36909405	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	15551357	36909405	78260473	262	5466										
DIS3	22894	genome.wustl.edu	37	chr13	73337593	73337593	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aactgtaggaccttacccttGacctggctgccttaacaaga	8	12	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr13:73337593G>C	ENST00000377767.4	-	16	2223	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	DIS3_ENST00000545453.1_Nonsense_Mutation_p.S546*|DIS3_ENST00000377780.4_Nonsense_Mutation_p.S678*	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	708					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTTACCCTTGACCTGGCTGC	0.333										Multiple Myeloma(4;0.011)																																							0													92	93	92					13																	73337593		2203	4300	6503	SO:0001587	stop_gained	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2123C>G	13.37:g.73337593G>C	ENSP00000366997:p.Ser708*		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Nonsense_Mutation	SNP	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.S708*	ENST00000377767.4	37	c.2123	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	G	44	10.866689	0.99480	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	.	.	.	X	708;678;546	.	ENSP00000366997:S708X	S	-	2	0	DIS3	72235594	1.000000	0.71417	0.954000	0.39281	0.273000	0.26683	9.837000	0.99465	2.715000	0.92844	0.655000	0.94253	TCA	DIS3	-	pfam_RNase_II/R,smart_RNase_II/R		0.333	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	G	NM_014953		73337593	-1	no_errors	ENST00000377767	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	73337593	G	C	73337593	4	2	38	1	0	0	0	0	0	1	0	0	4545	1294	45	1	777	1	DIS3	13	73337593	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	36428188	73337593	41832285	263	5467										
GPC6	10082	genome.wustl.edu	37	chr13	95055328	95055328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggatgacgtgtgtcccacgGagtttgagtttgtcaccaca	12	9	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr13:95055328G>A	ENST00000377047.4	+	9	2140	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	509					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTGTCCCACGGAGTTTGAGTT	0.562																																																	0													159	165	163					13																	95055328		2203	4300	6503	SO:0001583	missense	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1525G>A	13.37:g.95055328G>A	ENSP00000366246:p.Glu509Lys		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.E509K	ENST00000377047.4	37	c.1525	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.524305	0.96431	.	.	ENSG00000183098	ENST00000377047	T	0.52057	0.68	5.84	5.84	0.93424	.	0.164374	0.53938	D	0.000053	T	0.58538	0.2129	L	0.52905	1.665	0.47476	D	0.999431	P	0.42296	0.775	P	0.51297	0.665	T	0.45731	-0.9241	10	0.25106	T	0.35	.	20.1432	0.98067	0.0:0.0:1.0:0.0	.	509	Q9Y625	GPC6_HUMAN	K	509	ENSP00000366246:E509K	ENSP00000366246:E509K	E	+	1	0	GPC6	93853329	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.312000	0.72840	2.769000	0.95229	0.561000	0.74099	GAG	GPC6	-	pfam_Glypican		0.562	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	G	NM_005708		95055328	1	no_errors	ENST00000377047	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95055328	G	A	95055328	3	1	38	1	0	0	0	0	1	0	0	0	6621	1175	41	1	1559	1	GPC6	13	95055328	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	21717735	95055328	20114550	264	5468										
COL4A1	1282	genome.wustl.edu	37	chr13	110850842	110850842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccaggctgcccagggggcccAggggaaccaggaggacccgg	18	14	0	0	rs995224	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr13:110850842A>G	ENST00000375820.4	-	21	1378	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	COL4A1_ENST00000543140.1_Silent_p.P419P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	419	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGCCCAGGGGAACCAG	0.592													a|||	1034	0.20647	0.2073	0.3732	5008	,	,		16322	0.0546		0.2664	False		,,,				2504	0.182																0										950,3456	326.9+/-299.8	107,736,1360	45	53	50		1257	-6.4	0	13	dbSNP_86	50	2334,6266	360.6+/-332.0	332,1670,2298	no	coding-synonymous	COL4A1	NM_001845.4		439,2406,3658	GG,GA,AA		27.1395,21.5615,25.2499		419/1670	110850842	3284,9722	2203	4300	6503	SO:0001819	synonymous_variant	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1257T>C	13.37:g.110850842A>G			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P419	ENST00000375820.4	37	c.1257	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	A			110850842	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	silent	SNP	0.046	G	G	110850842	A	G	110850842	2	3	38	1	0	0	0	0	0	0	0	1	3694	175	7	5		5	COL4A1	13	110850842	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	15795514	110850842	4319036	265	5469										
C14orf93	60686	genome.wustl.edu	37	chr14	23467813	23467813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgtcacactcctcttccacGgcagacagagccttaaaggc	8	15	2	2	rs113664500	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:23467813G>A	ENST00000299088.6	-	2	849	c.420C>T	c.(418-420)gcC>gcT	p.A140A	C14orf93_ENST00000397379.3_Silent_p.A140A|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000406429.2_Silent_p.A140A|C14orf93_ENST00000341470.4_Silent_p.A140A|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397382.4_Silent_p.A140A|C14orf93_ENST00000557513.1_5'Flank	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	140						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCTCTTCCACGGCAGACAGAG	0.632																																																	0								G	,,	0,4406		0,0,2203	45	46	45		420,420,420	-7.6	0	14	dbSNP_132	45	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	C14orf93	NM_001130706.1,NM_001130708.1,NM_021944.2	,,	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,,	140/539,140/539,140/539	23467813	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.420C>T	14.37:g.23467813G>A			B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	NULL	p.A140	ENST00000299088.6	37	c.420	CCDS9583.1	14																																																																																			C14orf93	-	NULL		0.632	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	G	NM_021944		23467813	-1	no_errors	ENST00000299088	ensembl	human	known	70_37	silent	SNP	0.002	A	A	23467813	G	A	23467813	2	1	38	1	0	0	0	0	0	0	0	1	1786	1103	39	2		2	C14orf93	14	23467813	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		23467813	83881727	266	5470										
RNF31	55072	genome.wustl.edu	37	chr14	24626844	24626844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tacaatgccttttacgccaaGaatgtaagcccagagagttg	9	9	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:24626844G>C	ENST00000324103.6	+	16	3044	c.2724G>C	c.(2722-2724)aaG>aaC	p.K908N	RNF31_ENST00000382687.3_Missense_Mutation_p.K757N|RNF31_ENST00000559275.1_Missense_Mutation_p.K757N|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.K383N	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	908					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TTTACGCCAAGAATGTAAGCC	0.587																																																	0													106	114	111					14																	24626844		2011	4163	6174	SO:0001583	missense	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2724G>C	14.37:g.24626844G>C	ENSP00000315112:p.Lys908Asn		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.K908N	ENST00000324103.6	37	c.2724	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149337	0.37923	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.76968	-1.06;-1.06	5.64	4.75	0.60458	Zinc finger, C6HC-type (1);Zinc finger, RING-type (1);	0.119241	0.56097	D	0.000039	T	0.69949	0.3168	N	0.04260	-0.245	0.36724	D	0.881313	D;B;D;D	0.71674	0.997;0.192;0.997;0.998	P;B;P;D	0.66351	0.879;0.028;0.879;0.943	T	0.74825	-0.3533	10	0.42905	T	0.14	-29.4896	7.3471	0.26670	0.2417:0.0:0.7583:0.0	.	908;667;908;757	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	N	341;908;757	ENSP00000315112:K908N;ENSP00000372134:K757N	ENSP00000315112:K908N	K	+	3	2	RNF31	23696684	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.313000	0.33585	1.617000	0.50277	0.650000	0.86243	AAG	RNF31	-	smart_Znf_C6HC		0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	G	NM_017999		24626844	1	no_errors	ENST00000324103	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24626844	G	C	24626844	3	2	38	1	0	0	0	0	1	0	0	0	13517	933	33	1	2786	1	RNF31	14	24626844	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1159031	24626844	82722696	267	5471										
FAM177A1	283635	genome.wustl.edu	37	chr14	35546373	35546373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagacaaaacttacctggggTccctacttatggttttacat	7	10	0	1	rs3211139	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:35546373T>C	ENST00000382406.3	+	4	345	c.288T>C	c.(286-288)ggT>ggC	p.G96G	FAM177A1_ENST00000396472.1_Silent_p.G96G|FAM177A1_ENST00000280987.4_Silent_p.G119G			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	96										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						TTACCTGGGGTCCCTACTTAT	0.373													C|||	707	0.141174	0.2292	0.1066	5008	,	,		18771	0.0327		0.1272	False		,,,				2504	0.1728																0								C	,	953,3453	734.7+/-410.6	111,731,1361	265	247	253		288,357	0.1	1	14	dbSNP_116	253	1312,7288	757.8+/-407.5	103,1106,3091	no	coding-synonymous,coding-synonymous	FAM177A1	NM_001079519.1,NM_173607.3	,	214,1837,4452	CC,CT,TT		15.2558,21.6296,17.415	,	96/214,119/237	35546373	2265,10741	2203	4300	6503	SO:0001819	synonymous_variant	283635			BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 24"	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.288T>C	14.37:g.35546373T>C			Q68CT2	Silent	SNP	NULL	p.G119	ENST00000382406.3	37	c.357	CCDS41944.1	14																																																																																			FAM177A1	-	NULL		0.373	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM177A1	HGNC	protein_coding	OTTHUMT00000410816.1	T	NM_173607		35546373	1	no_errors	ENST00000280987	ensembl	human	known	70_37	silent	SNP	0.981	C	C	35546373	T	C	35546373	2	2	38	1	0	0	0	0	0	0	0	1	5516	1654	58	5		5	FAM177A1	14	35546373	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	10919529	35546373	71803167	268	5472										
MDGA2	161357	genome.wustl.edu	37	chr14	47770696	47770696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtagaccctttcggagtagCgctcctcttcaatgttacag	9	11	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:47770696C>T	ENST00000399232.2	-	2	495	c.131G>A	c.(130-132)cGc>cAc	p.R44H	MDGA2_ENST00000472499.2_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R113H|MDGA2_ENST00000357362.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	44	Ig-like 1.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCGGAGTAGCGCTCCTCTTC	0.507																																																	0													173	156	161					14																	47770696		692	1591	2283	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.131G>A	14.37:g.47770696C>T	ENSP00000382178:p.Arg44His		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.R113H	ENST00000399232.2	37	c.338		14	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566036	0.65651	.	.	ENSG00000139915	ENST00000439988;ENST00000399232;ENST00000486952	T;T;T	0.55588	0.51;0.51;0.51	5.2	5.2	0.72013	Immunoglobulin-like (1);	0.000000	0.36066	U	0.002803	T	0.63177	0.2489	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.64504	-0.6392	10	0.54805	T	0.06	.	17.7007	0.88293	0.0:1.0:0.0:0.0	.	44	Q7Z553	MDGA2_HUMAN	H	44;113;68	ENSP00000400011:R44H;ENSP00000382178:R113H;ENSP00000452515:R68H	ENSP00000382178:R113H	R	-	2	0	MDGA2	46840446	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	4.668000	0.61568	2.591000	0.87537	0.650000	0.86243	CGC	MDGA2	-	pfscan_Ig-like		0.507	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	C	NM_182830		47770696	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47770696	C	T	47770696	3	4	38	1	0	0	0	0	1	0	0	0	9430	768	27	2	2803	2	MDGA2	14	47770696	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	12224323	47770696	59578844	269	5473										
SYNE2	23224	genome.wustl.edu	37	chr14	64469664	64469664	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tctcagaacagctaaactctCtgctgagcccgttacagacc	7	14	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:64469664C>T	ENST00000344113.4	+	30	4225	c.4013C>T	c.(4012-4014)tCt>tTt	p.S1338F	SYNE2_ENST00000554584.1_Missense_Mutation_p.S1338F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S1338F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1338					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTAAACTCTCTGCTGAGCCC	0.423																																																	0													64	63	63					14																	64469664		1869	4117	5986	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4013C>T	14.37:g.64469664C>T	ENSP00000341781:p.Ser1338Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1338F	ENST00000344113.4	37	c.4013	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020235	0.19433	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59638	0.61;0.62;0.25	5.48	5.48	0.80851	.	0.000000	0.51477	D	0.000084	T	0.71804	0.3383	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.95;0.977	T	0.69811	-0.5044	10	0.40728	T	0.16	.	17.5303	0.87813	0.0:1.0:0.0:0.0	.	1338;1338	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	1338	ENSP00000350719:S1338F;ENSP00000341781:S1338F;ENSP00000452570:S1338F	ENSP00000261678:S1338F	S	+	2	0	SYNE2	63539417	0.034000	0.19679	0.028000	0.17463	0.008000	0.06430	3.332000	0.52083	2.583000	0.87209	0.591000	0.81541	TCT	SYNE2	-	NULL		0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64469664	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.178	T	T	64469664	C	T	64469664	3	4	38	1	0	0	0	0	1	0	0	0	15476	913	32	1	4127	1	SYNE2	14	64469664	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	16698968	64469664	42879876	270	5474										
SYNE2	23224	genome.wustl.edu	37	chr14	64473854	64473854	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctaattctcttccacacttCaaagatggcagagaaaaaac	6	10	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:64473854C>G	ENST00000344113.4	+	31	4703	c.4491C>G	c.(4489-4491)ttC>ttG	p.F1497L	SYNE2_ENST00000554584.1_Missense_Mutation_p.F1497L|SYNE2_ENST00000358025.3_Missense_Mutation_p.F1497L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1497					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCCACACTTCAAAGATGGCA	0.363																																																	0													174	161	165					14																	64473854		1833	4099	5932	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4491C>G	14.37:g.64473854C>G	ENSP00000341781:p.Phe1497Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.F1497L	ENST00000344113.4	37	c.4491	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	7.864	0.726614	0.15439	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.31247	1.5;1.5;1.5	5.62	3.71	0.42584	.	0.514144	0.18456	N	0.140681	T	0.21186	0.0510	L	0.38531	1.155	0.24039	N	0.996086	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13282	-1.0515	10	0.09843	T	0.71	.	11.6369	0.51209	0.1208:0.6751:0.2041:0.0	.	1497;1497	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	1497	ENSP00000350719:F1497L;ENSP00000341781:F1497L;ENSP00000452570:F1497L	ENSP00000261678:F1497L	F	+	3	2	SYNE2	63543607	0.000000	0.05858	0.713000	0.30519	0.476000	0.33039	-0.141000	0.10327	2.628000	0.89032	0.655000	0.94253	TTC	SYNE2	-	smart_Spectrin/alpha-actinin		0.363	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64473854	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.257	G	G	64473854	C	G	64473854	3	3	38	1	0	0	0	0	1	0	0	0	15476	825	29	1	4609	1	SYNE2	14	64473854	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4190	64473854	42875686	271	5475										
SPTB	6710	genome.wustl.edu	37	chr14	65216120	65216120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaaggcaggggcaggctctgCgccttgacgcggatgctctg	17	11	2	1	rs57421986	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:65216120C>T	ENST00000556626.1	-	36	7033	c.6891G>A	c.(6889-6891)gcG>gcA	p.A2297A	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Silent_p.A2297A			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGCTCTGCGCCTTGACGC	0.632													C|||	523	0.104433	0.2421	0.0346	5008	,	,		13049	0.0317		0.0775	False		,,,				2504	0.0706																0								C		979,3427	354.6+/-312.7	114,751,1338	56	50	52		6891	-9.5	0.4	14	dbSNP_129	52	509,8091	139.8+/-196.4	16,477,3807	no	coding-synonymous	SPTB	NM_001024858.2		130,1228,5145	TT,TC,CC		5.9186,22.2197,11.4409		2297/2329	65216120	1488,11518	2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6891G>A	14.37:g.65216120C>T			Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2297	ENST00000556626.1	37	c.6891	CCDS32099.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu		0.632	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414076.1	C			65216120	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	silent	SNP	0.288	T	T	65216120	C	T	65216120	2	4	38	1	0	0	0	0	0	0	0	1	15148	755	27	2		2	SPTB	14	65216120	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	742266	65216120	42133420	272	5476										
ATXN3	4287	genome.wustl.edu	37	chr14	92555077	92555077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gttcagccgttacttaccttCctgttgtaattgagccaaga	8	10	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:92555077C>T	ENST00000532032.1	-	6	481	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	ATXN3_ENST00000545170.1_Missense_Mutation_p.E158K|ATXN3_ENST00000393287.5_Missense_Mutation_p.E158K|ATXN3_ENST00000429774.2_Missense_Mutation_p.E143K|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Missense_Mutation_p.E143K|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000340660.6_Missense_Mutation_p.E103K			P54252	ATX3_HUMAN	ataxin 3	158	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TACTTACCTTCCTGTTGTAAT	0.358																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												0													200	216	211					14																	92555077		2203	4300	6503	SO:0001583	missense	4287			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.472G>A	14.37:g.92555077C>T	ENSP00000437157:p.Glu158Lys		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.E158K	ENST00000532032.1	37	c.472		14	.	.	.	.	.	.	.	.	.	.	C	35	5.450765	0.96205	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.51	5.51	0.81932	.	0.047963	0.85682	D	0.000000	T	0.60011	0.2236	L	0.56280	1.765	0.80722	D	1	P;P;P;P;P	0.41313	0.584;0.745;0.528;0.701;0.458	P;P;P;P;P	0.58172	0.834;0.75;0.745;0.745;0.519	T	0.55848	-0.8076	10	0.48119	T	0.1	.	19.0675	0.93117	0.0:1.0:0.0:0.0	.	158;143;158;103;158	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	K	158;158;158;158;158;158;158;143;157;158;143;103;158;88;157;60;107;52;92	ENSP00000445618:E158K;ENSP00000389376:E143K;ENSP00000376965:E158K;ENSP00000426697:E143K;ENSP00000339110:E103K;ENSP00000437157:E158K;ENSP00000451001:E88K;ENSP00000451385:E157K;ENSP00000451417:E60K;ENSP00000451996:E107K;ENSP00000450641:E52K;ENSP00000435571:E92K	ENSP00000339110:E103K	E	-	1	0	ATXN3	91624830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.494000	0.81503	2.620000	0.88729	0.555000	0.69702	GAA	ATXN3	-	pfam_Josephin,pfscan_Josephin,prints_Josephin		0.358	ATXN3-015	KNOWN	basic	protein_coding	ATXN3	HGNC	protein_coding	OTTHUMT00000388065.1	C	NM_004993		92555077	-1	no_errors	ENST00000545170	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92555077	C	T	92555077	3	4	38	1	0	0	0	0	1	0	0	0	1214	864	30	1	637	1	ATXN3	14	92555077	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	27338957	92555077	14794463	273	5477										
KIAA1409	57578	genome.wustl.edu	37	chr14	94079237	94079237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gttcaccagctgattacagtGctcatgaagttcatggccaa	9	10	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:94079237G>A	ENST00000393151.2	+	27	3849	c.3849G>A	c.(3847-3849)gtG>gtA	p.V1283V	UNC79_ENST00000553484.1_Silent_p.V1305V|UNC79_ENST00000555664.1_Silent_p.V1283V|UNC79_ENST00000256339.4_Silent_p.V1106V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1283					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGATTACAGTGCTCATGAAGT	0.517																																																	0													128	107	114					14																	94079237		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3849G>A	14.37:g.94079237G>A			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.V1305	ENST00000393151.2	37	c.3915		14																																																																																			UNC79	-	superfamily_ARM-type_fold		0.517	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94079237	1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	1.000	A	A	94079237	G	A	94079237	2	1	38	1	0	0	0	0	0	0	0	1	8250	1306	46	4		4	KIAA1409	14	94079237	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1524160	94079237	13270303	274	5478										
ATG2B	55102	genome.wustl.edu	37	chr14	96788973	96788973	+	Missense_Mutation	SNP	C	C	A													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaggaatgagcacctccttcCtcttcctcctggtagtgacc							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:96788973C>A	ENST00000359933.4	-	17	3533	c.2640G>T	c.(2638-2640)gaG>gaT	p.E880D	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	880					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACCTCCTTCCTCTTCCTCCT	0.413																																																	0													111	105	107					14																	96788973		1911	4133	6044	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2640G>T	14.37:g.96788973C>A	ENSP00000353010:p.Glu880Asp		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E880D	ENST00000359933.4	37	c.2640	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345877	0.41599	.	.	ENSG00000066739	ENST00000359933	T	0.10668	2.85	5.67	2.77	0.32553	.	0.221498	0.19507	U	0.112590	T	0.05090	0.0136	N	0.17474	0.49	0.41372	D	0.987497	B	0.17465	0.022	B	0.14578	0.011	T	0.33574	-0.9863	10	0.15952	T	0.53	.	3.6862	0.08329	0.1485:0.57:0.1457:0.1358	.	880	Q96BY7	ATG2B_HUMAN	D	880	ENSP00000353010:E880D	ENSP00000353010:E880D	E	-	3	2	ATG2B	95858726	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.414000	0.21164	1.354000	0.45846	0.655000	0.94253	GAG	ATG2B	-	NULL		0.413	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96788973	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96788973	C	A	96788973	3	1	38	1	0	0	0	0	1	0	0	0	1095	680	24	4	3700	4	ATG2B	14	96788973	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2709736	96788973	10560567	275	5479	28	2								
ATG2B	55102	genome.wustl.edu	37	chr14	96788975	96788975	+	Missense_Mutation	SNP	C	C	T													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggaatgagcacctccttcctCttcctcctggtagtgaccat							TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:96788975C>T	ENST00000359933.4	-	17	3531	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	880					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCTCCTTCCTCTTCCTCCTGG	0.418																																																	0													111	105	107					14																	96788975		1915	4133	6048	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2638G>A	14.37:g.96788975C>T	ENSP00000353010:p.Glu880Lys		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E880K	ENST00000359933.4	37	c.2638	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887943	0.91814	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.67	5.67	0.87782	.	0.221498	0.19507	U	0.112590	T	0.12050	0.0293	L	0.44542	1.39	0.58432	D	0.999999	P	0.46395	0.877	B	0.40741	0.339	T	0.17930	-1.0353	10	0.09338	T	0.73	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	880	Q96BY7	ATG2B_HUMAN	K	880	ENSP00000353010:E880K	ENSP00000353010:E880K	E	-	1	0	ATG2B	95858728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.171000	0.77595	2.679000	0.91253	0.655000	0.94253	GAG	ATG2B	-	NULL		0.418	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96788975	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96788975	C	T	96788975	3	4	38	1	0	0	0	0	1	0	0	0	1095	922	32	1	3702	1	ATG2B	14	96788975	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2	96788975	10560565	276	5480	28	2								
PPP2R5C	5527	genome.wustl.edu	37	chr14	102368166	102368166	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	attgaaccatcagaatttgtGaagatcatggaacccctctt	7	9	3	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:102368166G>A	ENST00000334743.5	+	9	1011	c.963G>A	c.(961-963)gtG>gtA	p.V321V	PPP2R5C_ENST00000328724.5_Silent_p.V376V|PPP2R5C_ENST00000422945.2_Silent_p.V352V|PPP2R5C_ENST00000557095.1_Silent_p.V321V|PPP2R5C_ENST00000445439.3_Silent_p.V321V|PPP2R5C_ENST00000350249.3_Silent_p.V321V	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	321					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGAATTTGTGAAGATCATGG	0.438																																																	0													91	93	92					14																	102368166		2203	4300	6503	SO:0001819	synonymous_variant	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.963G>A	14.37:g.102368166G>A			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.V352	ENST00000334743.5	37	c.1056	CCDS9964.1	14																																																																																			PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.438	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	G	NM_002719		102368166	1	no_errors	ENST00000422945	ensembl	human	known	70_37	silent	SNP	0.998	A	A	102368166	G	A	102368166	2	1	38	1	0	0	0	0	0	0	0	1	12421	1277	45	1		1	PPP2R5C	14	102368166	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5579191	102368166	4981374	277	5481										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102477145	102477145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaggacatcccgctgctcttCagcctcctgtcggacgtgtt	11	14	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr14:102477145C>T	ENST00000360184.4	+	32	6638	c.6474C>T	c.(6472-6474)ttC>ttT	p.F2158F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2158					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGCTGCTCTTCAGCCTCCTGT	0.567																																																	0													107	97	101					14																	102477145		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6474C>T	14.37:g.102477145C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.F2158	ENST00000360184.4	37	c.6474	CCDS9966.1	14																																																																																			DYNC1H1	-	NULL		0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102477145	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	T	T	102477145	C	T	102477145	2	4	38	1	0	0	0	0	0	0	0	1	4851	825	29	1		1	DYNC1H1	14	102477145	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	108979	102477145	4872395	278	5482										
TJP1	7082	genome.wustl.edu	37	chr15	30018627	30018627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggttttgctgttgttgaaTtgcttctttcagcgcaccat	9	9	2	1	rs2229515	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:30018627T>C	ENST00000346128.6	-	18	2842	c.2368A>G	c.(2368-2370)Att>Gtt	p.I790V	TJP1_ENST00000356107.6_Missense_Mutation_p.I790V|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000545208.2_Missense_Mutation_p.I790V|TJP1_ENST00000400011.2_Missense_Mutation_p.I794V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	790			I -> V (in dbSNP:rs7179270). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8395056, ECO:0000269|Ref.3}.		apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTTGTTGAATTGCTTCTTTC	0.353													T|||	710	0.141773	0.0582	0.2003	5008	,	,		19009	0.124		0.1262	False		,,,				2504	0.2474				Melanoma(77;681 1843 6309 6570)												0								T	VAL/ILE,VAL/ILE	259,3443		10,239,1602	108	102	104		2368,2368	3.5	0.9	15	dbSNP_116	104	902,7290		51,800,3245	yes	missense,missense	TJP1	NM_003257.3,NM_175610.2	29,29	61,1039,4847	CC,CT,TT		11.0107,6.9962,9.7612	possibly-damaging,possibly-damaging	790/1749,790/1669	30018627	1161,10733	1851	4096	5947	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2368A>G	15.37:g.30018627T>C	ENSP00000281537:p.Ile790Val		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.I790V	ENST00000346128.6	37	c.2368	CCDS42007.1	15	241	0.11034798534798534	33	0.06707317073170732	64	0.17679558011049723	62	0.10839160839160839	82	0.10817941952506596	T	17.10	3.303927	0.60305	0.069962	0.110107	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.82	3.52	0.40303	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.148108	0.64402	N	0.000011	T	0.00073	0.0002	L	0.58302	1.8	0.09310	P	0.9999999999999991	P;P;P;B	0.40834	0.541;0.633;0.73;0.004	P;B;P;B	0.53518	0.522;0.324;0.728;0.006	T	0.06752	-1.0809	8	.	.	.	.	8.452	0.32877	0.0:0.2098:0.0:0.7902	rs7179270;rs60430516;rs7179270	783;790;790;794	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	790;794;790;790;790	ENSP00000281537:I790V;ENSP00000382890:I794V;ENSP00000441202:I790V;ENSP00000348416:I790V	.	I	-	1	0	TJP1	27805919	1.000000	0.71417	0.852000	0.33557	0.776000	0.43924	2.833000	0.48159	0.475000	0.27415	0.533000	0.62120	ATT	TJP1	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.353	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	T	NM_003257		30018627	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	0.976	C	C	30018627	T	C	30018627	3	2	38	1	0	0	0	0	1	0	0	0	15959	1493	52	5	2922	5	TJP1	15	30018627	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09		30018627	72512765	279	5483										
OTUD7A	161725	genome.wustl.edu	37	chr15	31851254	31851254	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaatcctcgctgtacacgctCaggtctggcaactggaatgt	10	11	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:31851254C>T	ENST00000307050.4	-	3	560	c.468G>A	c.(466-468)ctG>ctA	p.L156L	OTUD7A_ENST00000382902.1_Silent_p.L156L	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	156					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTACACGCTCAGGTCTGGCA	0.582																																																	0													108	81	90					15																	31851254		2201	4300	6501	SO:0001819	synonymous_variant	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.468G>A	15.37:g.31851254C>T			Q8IWK5	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.L156	ENST00000307050.4	37	c.468	CCDS10026.1	15																																																																																			OTUD7A	-	NULL		0.582	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	C	NM_130901		31851254	-1	no_errors	ENST00000382902	ensembl	human	known	70_37	silent	SNP	0.985	T	T	31851254	C	T	31851254	2	4	38	1	0	0	0	0	0	0	0	1	11342	813	29	1		1	OTUD7A	15	31851254	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1832627	31851254	70680138	280	5484										
CHRNA7	1139	genome.wustl.edu	37	chr15	32460419	32460419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gatgagcacctcctgcacggCgggcaaccccccgaggggga	15	15	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:32460419C>T	ENST00000306901.3	+	10	1366	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	CHRNA7_ENST00000454250.3_Silent_p.G452G|CHRNA7_ENST00000455693.2_Silent_p.G242G	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	423					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCCTGCACGGCGGGCAACCCC	0.692																																					Esophageal Squamous(193;529 2900 40232 43193)												0													2	3	3					15																	32460419		1370	3021	4391	SO:0001819	synonymous_variant	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1269C>T	15.37:g.32460419C>T			A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G452	ENST00000306901.3	37	c.1356	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.692	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	C			32460419	1	no_errors	ENST00000454250	ensembl	human	known	70_37	silent	SNP	0.001	T	T	32460419	C	T	32460419	2	4	38	1	0	0	0	0	0	0	0	1	3393	755	27	2		2	CHRNA7	15	32460419	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	609165	32460419	70070973	281	5485										
AQR	9716	genome.wustl.edu	37	chr15	35226813	35226813	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aatgaatctttcacagtaatGaactttgtccatagtgacag	7	7	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:35226813G>T	ENST00000156471.5	-	10	967	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	248					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCACAGTAATGAACTTTGTCC	0.353																																																	0													56	55	55					15																	35226813		1812	4079	5891	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.742C>A	15.37:g.35226813G>T	ENSP00000156471:p.His248Asn		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.H248N	ENST00000156471.5	37	c.742	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608579	0.66558	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93076	-3.16	5.54	5.54	0.83059	.	0.048011	0.85682	D	0.000000	D	0.92001	0.7466	M	0.65498	2.005	0.80722	D	1	B	0.20671	0.047	B	0.15052	0.012	D	0.88093	0.2814	10	0.15499	T	0.54	-25.569	19.6745	0.95926	0.0:0.0:1.0:0.0	.	248	O60306	AQR_HUMAN	N	248	ENSP00000156471:H248N	ENSP00000156471:H248N	H	-	1	0	AQR	33014105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.545000	0.98095	2.880000	0.98712	0.650000	0.86243	CAT	AQR	-	NULL		0.353	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35226813	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35226813	G	T	35226813	3	4	38	1	0	0	0	0	1	0	0	0	835	1290	45	3	3819	3	AQR	15	35226813	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2766394	35226813	67304579	282	5486										
VPS18	57617	genome.wustl.edu	37	chr15	41191573	41191573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgggcttttcggccctgctcCggatctctacttccgcccat	9	16	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:41191573C>T	ENST00000220509.5	+	4	896	c.557C>T	c.(556-558)cCg>cTg	p.P186L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	186					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCCTGCTCCGGATCTCTAC	0.612																																																	0													87	91	90					15																	41191573		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.557C>T	15.37:g.41191573C>T	ENSP00000220509:p.Pro186Leu		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.P186L	ENST00000220509.5	37	c.557	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	C	8.112	0.778954	0.16120	.	.	ENSG00000104142	ENST00000220509	T	0.41400	1.0	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.38175	1.15	0.80722	D	1	B	0.20459	0.045	B	0.12837	0.008	T	0.11131	-1.0600	10	0.15952	T	0.53	-17.1657	18.2707	0.90068	0.0:1.0:0.0:0.0	.	186	Q9P253	VPS18_HUMAN	L	186	ENSP00000220509:P186L	ENSP00000220509:P186L	P	+	2	0	VPS18	38978865	1.000000	0.71417	0.953000	0.39169	0.984000	0.73092	4.772000	0.62324	2.609000	0.88269	0.655000	0.94253	CCG	VPS18	-	NULL		0.612	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	C			41191573	1	no_errors	ENST00000220509	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41191573	C	T	41191573	3	4	38	1	0	0	0	0	1	0	0	0	17225	652	23	2	571	2	VPS18	15	41191573	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5964760	41191573	61339819	283	5487										
INO80	54617	genome.wustl.edu	37	chr15	41364136	41364136	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtgggctgtggaatatcctCaccagcccggatagatgggt	14	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:41364136C>G	ENST00000361937.3	-	12	1940	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	INO80_ENST00000401393.3_Missense_Mutation_p.E506Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	506	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAATATCCTCACCAGCCCGG	0.458																																																	0													102	108	106					15																	41364136		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1516G>C	15.37:g.41364136C>G	ENSP00000355205:p.Glu506Gln		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E506Q	ENST00000361937.3	37	c.1516	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153364	0.78114	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93604	-3.25;-3.25	4.94	4.94	0.65067	.	0.055428	0.64402	D	0.000001	D	0.90532	0.7033	L	0.47716	1.5	0.80722	D	1	P	0.51057	0.941	B	0.42163	0.378	D	0.88618	0.3161	10	0.15499	T	0.54	.	18.4288	0.90618	0.0:1.0:0.0:0.0	.	506	Q9ULG1	INO80_HUMAN	Q	506	ENSP00000355205:E506Q;ENSP00000384686:E506Q	ENSP00000355205:E506Q	E	-	1	0	INO80	39151428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.593000	0.87608	0.650000	0.86243	GAG	INO80	-	NULL		0.458	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41364136	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41364136	C	G	41364136	3	3	38	1	0	0	0	0	1	0	0	0	7766	835	29	1	3254	1	INO80	15	41364136	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	172563	41364136	61167256	284	5488										
EHD4	30844	genome.wustl.edu	37	chr15	42193115	42193115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagagtgtagaagagctcgtCgtagacgggcttgtctttgg	15	7	1	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:42193115C>T	ENST00000220325.4	-	6	1437	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	452	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AAGAGCTCGTCGTAGACGGGC	0.617																																																	0													79	67	71					15																	42193115		2203	4299	6502	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1354G>A	15.37:g.42193115C>T	ENSP00000220325:p.Asp452Asn		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.D452N	ENST00000220325.4	37	c.1354	CCDS10081.1	15	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194825	0.78902	.	.	ENSG00000103966	ENST00000220325	T	0.28895	1.59	4.68	4.68	0.58851	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.049674	0.85682	D	0.000000	T	0.47322	0.1439	M	0.88842	2.985	0.80722	D	1	P	0.43607	0.812	B	0.43301	0.415	T	0.59742	-0.7397	10	0.46703	T	0.11	-22.4995	17.9348	0.89009	0.0:1.0:0.0:0.0	.	452	Q9H223	EHD4_HUMAN	N	452	ENSP00000220325:D452N	ENSP00000220325:D452N	D	-	1	0	EHD4	39980407	1.000000	0.71417	0.785000	0.31869	0.959000	0.62525	7.759000	0.85235	2.299000	0.77371	0.543000	0.68304	GAC	EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology		0.617	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	C	NM_139265		42193115	-1	no_errors	ENST00000220325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42193115	C	T	42193115	3	4	38	1	0	0	0	0	1	0	0	0	4990	884	31	1	275	1	EHD4	15	42193115	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	828979	42193115	60338277	285	5489										
MYO5C	55930	genome.wustl.edu	37	chr15	52553091	52553091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaaacaccaataaaagtgtgCtgcttgcctgaaaactgcaa	7	9	0	1	rs372026654		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:52553091C>T	ENST00000261839.7	-	10	1442	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q	MYO5C_ENST00000443683.2_Intron|MYO5C_ENST00000541028.1_5'Flank	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	427	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TAAAAGTGTGCTGCTTGCCTG	0.438																																																	0								C		1,3809		0,1,1904	107	101	103		1281	3.4	1	15		103	4,8236		0,4,4116	no	coding-synonymous	MYO5C	NM_018728.3		0,5,6020	TT,TC,CC		0.0485,0.0262,0.0415		427/1743	52553091	5,12045	1905	4120	6025	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1281G>A	15.37:g.52553091C>T			Q6P1W8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q427	ENST00000261839.7	37	c.1281	CCDS42036.1	15																																																																																			MYO5C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.438	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	C	NM_018728		52553091	-1	no_errors	ENST00000261839	ensembl	human	known	70_37	silent	SNP	1.000	T	T	52553091	C	T	52553091	2	4	38	1	0	0	0	0	0	0	0	1	10103	796	28	4		4	MYO5C	15	52553091	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	10359976	52553091	49978301	286	5490										
ISL2	64843	genome.wustl.edu	37	chr15	76632843	76632843	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagaacaagcgctgcaaggaCaagaagaaatccattctcat	8	10	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:76632843C>G	ENST00000290759.4	+	4	898	c.738C>G	c.(736-738)gaC>gaG	p.D246E	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	246					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GCTGCAAGGACAAGAAGAAAT	0.642																																					GBM(97;953 1391 16164 31496 36951)												0													33	38	37					15																	76632843		2197	4293	6490	SO:0001583	missense	64843			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.738C>G	15.37:g.76632843C>G	ENSP00000290759:p.Asp246Glu		B3KM37	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.D246E	ENST00000290759.4	37	c.738	CCDS10290.1	15	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516403	0.85495	.	.	ENSG00000159556	ENST00000290759	D	0.95588	-3.75	5.05	4.13	0.48395	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	N	0.20685	0.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90113	0.4193	10	0.07644	T	0.81	.	11.62	0.51113	0.0:0.912:0.0:0.088	.	246	Q96A47	ISL2_HUMAN	E	246	ENSP00000290759:D246E	ENSP00000290759:D246E	D	+	3	2	ISL2	74419898	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.953000	0.56699	1.253000	0.44018	-0.266000	0.10368	GAC	ISL2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.642	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1	C			76632843	1	no_errors	ENST00000290759	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76632843	C	G	76632843	3	3	38	1	0	0	0	0	1	0	0	0	7877	477	17	4	752	4	ISL2	15	76632843	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	24079752	76632843	25898549	287	5491										
KIAA1199	57214	genome.wustl.edu	37	chr15	81241206	81241206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgacactggacactgaggatCacaaagccaaaatcttccaa	7	11	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:81241206C>T	ENST00000394685.3	+	30	4446	c.4027C>T	c.(4027-4029)Cac>Tac	p.H1343Y	KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1343Y|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1343Y|RP11-351M8.2_ENST00000560873.1_RNA|MESDC2_ENST00000560244.1_5'UTR			Q8WUJ3	CEMIP_HUMAN		1343					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CACTGAGGATCACAAAGCCAA	0.517																																																	0													182	156	165					15																	81241206		2203	4300	6503	SO:0001583	missense	57214																														ENST00000394685.3:c.4027C>T	15.37:g.81241206C>T	ENSP00000378177:p.His1343Tyr		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.H1343Y	ENST00000394685.3	37	c.4027	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818051	0.50633	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.65178	-0.14;-0.14;-0.14	5.35	3.29	0.37713	.	0.318671	0.32134	N	0.006529	T	0.43986	0.1272	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34700	-0.9818	10	0.39692	T	0.17	-19.7515	8.2952	0.31982	0.0:0.5602:0.3455:0.0943	.	1343	Q8WUJ3	K1199_HUMAN	Y	1343	ENSP00000220244:H1343Y;ENSP00000378177:H1343Y;ENSP00000348583:H1343Y	ENSP00000220244:H1343Y	H	+	1	0	KIAA1199	79028261	0.999000	0.42202	0.959000	0.39883	0.982000	0.71751	1.850000	0.39328	1.404000	0.46819	0.650000	0.86243	CAC	KIAA1199	-	NULL		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	C			81241206	1	no_errors	ENST00000220244	ensembl	human	known	70_37	missense	SNP	0.499	T	T	81241206	C	T	81241206	3	4	38	1	0	0	0	0	1	0	0	0	8233	826	29	1	4137	1	KIAA1199	15	81241206	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4608363	81241206	21290186	288	5492										
WDR73	84942	genome.wustl.edu	37	chr15	85186837	85186837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cagggtccatcccatttccaTctaggaagatgtgacctctg	9	12	2	2	rs72750868	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:85186837T>C	ENST00000434634.2	-	8	1061	c.1001A>G	c.(1000-1002)gAt>gGt	p.D334G	SCAND2P_ENST00000348993.5_RNA|WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	334										cervix(1)|large_intestine(1)|lung(1)	3						CCCATTTCCATCTAGGAAGAT	0.512													T|||	222	0.0443291	0.0348	0.0375	5008	,	,		18533	0.001		0.0954	False		,,,				2504	0.0542																0								T	GLY/ASP	133,4077		2,129,1974	123	132	129		1001	2.1	0.1	15	dbSNP_130	129	684,7778		31,622,3578	yes	missense	WDR73	NM_032856.2	94	33,751,5552	CC,CT,TT		8.0832,3.1591,6.4473	possibly-damaging	334/379	85186837	817,11855	2105	4231	6336	SO:0001583	missense	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1001A>G	15.37:g.85186837T>C	ENSP00000387982:p.Asp334Gly		Q96JZ1|Q9P0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D334G	ENST00000434634.2	37	c.1001	CCDS45339.1	15	98	0.04487179487179487	9	0.018292682926829267	16	0.04419889502762431	0	0.0	73	0.09630606860158311	T	14.47	2.546086	0.45383	0.031591	0.080832	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.47177	0.85	5.91	2.11	0.27256	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.593517	0.19326	N	0.117019	T	0.00724	0.0024	N	0.25890	0.77	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.06180	-1.0841	10	0.17832	T	0.49	-11.2672	5.71	0.17929	0.0:0.0849:0.3321:0.583	.	334	Q6P4I2	WDR73_HUMAN	G	342;334	ENSP00000387982:D334G	ENSP00000381539:D342G	D	-	2	0	WDR73	82987841	0.046000	0.20272	0.065000	0.19835	0.032000	0.12392	0.678000	0.25277	0.471000	0.27319	-0.250000	0.11733	GAT	WDR73	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.512	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR73	HGNC	protein_coding	OTTHUMT00000418195.1	T	NM_032856		85186837	-1	no_errors	ENST00000434634	ensembl	human	known	70_37	missense	SNP	0.042	C	C	85186837	T	C	85186837	3	2	38	1	0	0	0	0	1	0	0	0	17354	1435	50	5	139	5	WDR73	15	85186837	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	3945631	85186837	17344555	289	5493										
SEMA4B	10509	genome.wustl.edu	37	chr15	90768237	90768237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccgggaaaggaagatcaactCatccctgcagctcccagacc	9	15	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:90768237C>T	ENST00000411539.2	+	10	1492	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	SEMA4B_ENST00000332496.6_Missense_Mutation_p.S411L|SEMA4B_ENST00000379122.3_Missense_Mutation_p.S406L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	406	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGATCAACTCATCCCTGCAG	0.632																																																	0													95	107	103					15																	90768237		2164	4263	6427	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1232C>T	15.37:g.90768237C>T	ENSP00000394720:p.Ser411Leu		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S411L	ENST00000411539.2	37	c.1232	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720481	0.89205	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.34072	1.38;1.38;1.38	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.127980	0.53938	D	0.000043	T	0.70657	0.3249	M	0.93420	3.415	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	T	0.79848	-0.1630	10	0.87932	D	0	.	17.6042	0.88033	0.0:1.0:0.0:0.0	.	406;411;406	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	L	411;406;411	ENSP00000332204:S411L;ENSP00000368417:S406L;ENSP00000394720:S411L	ENSP00000332204:S411L	S	+	2	0	SEMA4B	88569241	0.991000	0.36638	0.879000	0.34478	0.963000	0.63663	3.763000	0.55257	2.412000	0.81896	0.561000	0.74099	TCA	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.632	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90768237	1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	0.997	T	T	90768237	C	T	90768237	3	4	38	1	0	0	0	0	1	0	0	0	14062	838	29	1	1270	1	SEMA4B	15	90768237	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5581400	90768237	11763155	290	5494										
FES	2242	genome.wustl.edu	37	chr15	91428290	91428290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agcactatgggcttctcttcCgagctgtgcagcccccaggg	12	14	1	0	rs11539637	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:91428290C>T	ENST00000328850.3	+	2	157	c.15C>T	c.(13-15)tcC>tcT	p.S5S	FES_ENST00000394302.1_Silent_p.S5S|FES_ENST00000444422.2_Silent_p.S5S|FES_ENST00000450438.2_Silent_p.S5S|FES_ENST00000414248.2_Silent_p.S5S|FES_ENST00000394300.3_Silent_p.S5S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	5	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTTCTCTTCCGAGCTGTGCA	0.632													C|||	2942	0.58746	0.382	0.7277	5008	,	,		19330	0.8065		0.5258	False		,,,				2504	0.6033																0								C	,,,	1859,2537	529.5+/-372.7	378,1103,717	106	119	115		15,15,15,15	-9.8	0	15	dbSNP_120	115	4555,4041	593.3+/-393.1	1210,2135,953	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FES	NM_001143783.1,NM_001143784.1,NM_001143785.1,NM_002005.3	,,,	1588,3238,1670	TT,TC,CC		47.0102,42.2884,49.3688	,,,	5/765,5/753,5/695,5/823	91428290	6414,6578	2198	4298	6496	SO:0001819	synonymous_variant	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.15C>T	15.37:g.91428290C>T			B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.S5	ENST00000328850.3	37	c.15	CCDS10365.1	15																																																																																			FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_FCH,smart_FCH,pfscan_FCH		0.632	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	C	NM_002005		91428290	1	no_errors	ENST00000328850	ensembl	human	known	70_37	silent	SNP	0.022	T	T	91428290	C	T	91428290	2	4	38	1	0	0	0	0	0	0	0	1	5838	639	23	2		2	FES	15	91428290	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	660053	91428290	11103102	291	5495										
SYNM	23336	genome.wustl.edu	37	chr15	99670265	99670265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggctaaggagaaggactcacCgaaggagaagagcgtgcgag	17	7	1	3	rs3743244	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:99670265C>T	ENST00000560674.1	+	4	1311	c.842C>T	c.(841-843)cCg>cTg	p.P281L	SYNM_ENST00000328642.7_Missense_Mutation_p.P566L|SYNM_ENST00000336292.6_Missense_Mutation_p.P566L|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	567	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAGGACTCACCGAAGGAGAAG	0.502													C|||	673	0.134385	0.1921	0.196	5008	,	,		20942	0.0496		0.1342	False		,,,				2504	0.1002				Pancreas(125;1071 1762 21750 40003 40381)												0								C	LEU/PRO,LEU/PRO	666,3410		49,568,1421	62	65	64		1699,1699	-9	0	15	dbSNP_107	64	1267,7119		100,1067,3026	yes	missense,missense	SYNM	NM_145728.2,NM_015286.5	98,98	149,1635,4447	TT,TC,CC		15.1085,16.3395,15.5112	benign,benign	567/1566,567/1254	99670265	1933,10529	2038	4193	6231	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.842C>T	15.37:g.99670265C>T	ENSP00000453040:p.Pro281Leu		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.P566L	ENST00000560674.1	37	c.1697		15	292	0.1336996336996337	106	0.21544715447154472	67	0.1850828729281768	19	0.033216783216783216	100	0.13192612137203166	C	4.018	0.000810	0.07819	0.163395	0.151085	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.26660	1.72;1.72	5.87	-9.0	0.00747	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20306	-1.0279	7	0.02654	T	1	.	4.3567	0.11181	0.1725:0.4512:0.1752:0.2011	rs3743244	567;566	O15061;C9JIE4	SYNEM_HUMAN;.	L	566	ENSP00000336775:P566L;ENSP00000330469:P566L	ENSP00000330469:P566L	P	+	2	0	SYNM	97487788	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.999000	0.01467	-1.737000	0.01350	-0.982000	0.02568	CCG	SYNM	-	NULL		0.502	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	C	NM_145728		99670265	1	no_errors	ENST00000336292	ensembl	human	known	70_37	missense	SNP	0.000	T	T	99670265	C	T	99670265	3	4	38	1	0	0	0	0	1	0	0	0	15485	652	23	2	1713	2	SYNM	15	99670265	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	8241975	99670265	2861127	292	5496										
SYNM	23336	genome.wustl.edu	37	chr15	99671795	99671795	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccgggagctgtacatcccttCaggcgagagcgaggttgctg	15	11	1	1	rs5030699	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr15:99671795C>T	ENST00000560674.1	+	4	2841	c.2372C>T	c.(2371-2373)tCa>tTa	p.S791L	SYNM_ENST00000328642.7_Missense_Mutation_p.S1076L|SYNM_ENST00000336292.6_Missense_Mutation_p.S1076L|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1077	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TACATCCCTTCAGGCGAGAGC	0.687													C|||	354	0.0706869	0.0514	0.1556	5008	,	,		17574	0.0288		0.0765	False		,,,				2504	0.0736				Pancreas(125;1071 1762 21750 40003 40381)												0								C	LEU/SER,LEU/SER	200,3882		3,194,1844	18	22	20		3229,3229	4.4	0	15	dbSNP_113	20	710,7712		36,638,3537	yes	missense,missense	SYNM	NM_145728.2,NM_015286.5	145,145	39,832,5381	TT,TC,CC		8.4303,4.8996,7.2777	benign,benign	1077/1566,1077/1254	99671795	910,11594	2041	4211	6252	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2372C>T	15.37:g.99671795C>T	ENSP00000453040:p.Ser791Leu		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.S1076L	ENST00000560674.1	37	c.3227		15	140	0.0641025641025641	23	0.046747967479674794	47	0.1298342541436464	10	0.017482517482517484	60	0.079155672823219	C	10.17	1.275596	0.23307	0.048996	0.084303	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.87334	-2.24;-1.97	5.37	4.45	0.53987	.	.	.	.	.	T	0.05227	0.0139	.	.	.	0.80722	P	0.0	B;P	0.46395	0.061;0.877	B;B	0.40636	0.024;0.335	T	0.58674	-0.7595	7	0.72032	D	0.01	.	13.6198	0.62130	0.0:0.845:0.155:0.0	.	1077;1076	O15061;C9JIE4	SYNEM_HUMAN;.	L	1076	ENSP00000336775:S1076L;ENSP00000330469:S1076L	ENSP00000330469:S1076L	S	+	2	0	SYNM	97489318	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.868000	0.39509	1.233000	0.43693	0.563000	0.77884	TCA	SYNM	-	NULL		0.687	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	C	NM_145728		99671795	1	no_errors	ENST00000336292	ensembl	human	known	70_37	missense	SNP	0.003	T	T	99671795	C	T	99671795	3	4	38	1	0	0	0	0	1	0	0	0	15485	838	29	1	3243	1	SYNM	15	99671795	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1530	99671795	2859597	293	5497										
CRAMP1L	57585	genome.wustl.edu	37	chr16	1720687	1720687	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agcttcatctccccagagaaGagccggaagatgttgccgac	11	12	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:1720687G>A	ENST00000397412.3	+	20	3621	c.3522G>A	c.(3520-3522)aaG>aaA	p.K1174K	CRAMP1L_ENST00000436138.3_Silent_p.K1171K|CRAMP1L_ENST00000262317.4_Silent_p.K549K|CRAMP1L_ENST00000293925.5_Silent_p.K1174K|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1174	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCCAGAGAAGAGCCGGAAGA	0.572																																																	0													150	154	153					16																	1720687		1963	4151	6114	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3522G>A	16.37:g.1720687G>A			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K1174	ENST00000397412.3	37	c.3522	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL		0.572	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1720687	1	no_errors	ENST00000293925	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1720687	G	A	1720687	2	1	38	1	0	0	0	0	0	0	0	1	3851	933	33	1		1	CRAMP1L	16	1720687	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		1720687	88634066	294	5498										
TRAP1	10131	genome.wustl.edu	37	chr16	3722736	3722736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccacttgggcaggatgtccGtggccttggtctggatgagg	17	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:3722736G>A	ENST00000246957.5	-	10	1218	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	TRAP1_ENST00000575671.1_Missense_Mutation_p.T168M|TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000538171.1_Missense_Mutation_p.T324M	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	377					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CAGGATGTCCGTGGCCTTGGT	0.627																																																	0													137	94	108					16																	3722736		2197	4300	6497	SO:0001583	missense	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1130C>T	16.37:g.3722736G>A	ENSP00000246957:p.Thr377Met		B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.T377M	ENST00000246957.5	37	c.1130	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767249	0.69878	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.35	5.35	0.76521	Ribosomal protein S5 domain 2-type fold (1);	0.672013	0.16333	N	0.219053	T	0.22360	0.0539	L	0.52573	1.65	0.09310	N	0.99999	P;P	0.43857	0.588;0.819	P;P	0.50109	0.498;0.631	T	0.02208	-1.1195	10	0.87932	D	0	-5.8681	18.3915	0.90485	0.0:0.0:1.0:0.0	.	324;377	F5H897;Q12931	.;TRAP1_HUMAN	M	377;324	ENSP00000246957:T377M;ENSP00000442070:T324M	ENSP00000246957:T377M	T	-	2	0	TRAP1	3662737	0.995000	0.38212	0.015000	0.15790	0.697000	0.40408	7.431000	0.80335	2.665000	0.90641	0.491000	0.48974	ACG	TRAP1	-	pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90		0.627	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	G	NM_016292		3722736	-1	no_errors	ENST00000246957	ensembl	human	known	70_37	missense	SNP	0.276	A	A	3722736	G	A	3722736	3	1	38	1	0	0	0	0	1	0	0	0	16486	1145	40	2	1020	2	TRAP1	16	3722736	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2002049	3722736	86632017	295	5499										
CIITA	4261	genome.wustl.edu	37	chr16	11001770	11001770	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgcgggcgcggcagctgctGgagctgctgcactgcgccca	16	15	0	0	rs34654419	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:11001770G>T	ENST00000324288.8	+	11	2554	c.2421G>T	c.(2419-2421)ctG>ctT	p.L807L	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	807					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.L807L(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGCAGCTGCTGGAGCTGCTGC	0.687			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								G|||	1081	0.215855	0.2057	0.3876	5008	,	,		12685	0.1329		0.1869	False		,,,				2504	0.2229							Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						G		828,3494		88,652,1421	19	27	24		2421	2.8	1	16	dbSNP_126	24	1706,6752		189,1328,2712	no	coding-synonymous	CIITA	NM_000246.3		277,1980,4133	TT,TG,GG		20.1703,19.1578,19.8279		807/1131	11001770	2534,10246	2161	4229	6390	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2421G>T	16.37:g.11001770G>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.L807	ENST00000324288.8	37	c.2421	CCDS10544.1	16																																																																																			CIITA	-	NULL		0.687	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	G	NM_000246		11001770	1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11001770	G	T	11001770	2	4	38	1	0	0	0	0	0	0	0	1	3433	1335	47	4		4	CIITA	16	11001770	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	7279034	11001770	79352983	296	5500										
MYH11	4629	genome.wustl.edu	37	chr16	15917215	15917215	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcgacgatcttctccgagtaGatgggcaggtgtttataggg	14	7	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:15917215G>A	ENST00000300036.5	-	3	508	c.399C>T	c.(397-399)atC>atT	p.I133I	MYH11_ENST00000576790.2_Silent_p.I133I|MYH11_ENST00000396324.3_Silent_p.I133I|MYH11_ENST00000452625.2_Silent_p.I133I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	133	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCCGAGTAGATGGGCAGGT	0.562			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													205	152	170					16																	15917215		2197	4300	6497	SO:0001819	synonymous_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.399C>T	16.37:g.15917215G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I133	ENST00000300036.5	37	c.399	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.562	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	G	NM_001040113		15917215	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	silent	SNP	1.000	A	A	15917215	G	A	15917215	2	1	38	1	0	0	0	0	0	0	0	1	10054	932	33	1		1	MYH11	16	15917215	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4915445	15917215	74437538	297	5501										
SMG1	23049	genome.wustl.edu	37	chr16	18881990	18881990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tccaaatgcttgtcgaatacGagttccactgtgcactagtt	8	10	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:18881990G>A	ENST00000446231.2	-	18	2846	c.2434C>T	c.(2434-2436)Cgt>Tgt	p.R812C	snoU13_ENST00000459248.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R812C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	812	Interaction with SMG8 and SMG9.		R -> C. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTCGAATACGAGTTCCACTG	0.373																																																	0													41	34	36					16																	18881990		1873	4115	5988	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2434C>T	16.37:g.18881990G>A	ENSP00000402515:p.Arg812Cys		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R812C	ENST00000446231.2	37	c.2434	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025493	0.75390	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.12774	2.65;2.65	5.57	4.62	0.57501	Armadillo-type fold (1);	0.000000	0.56097	D	0.000034	T	0.11922	0.0290	L	0.40543	1.245	0.46222	D	0.998931	D	0.56287	0.975	B	0.37422	0.249	T	0.03315	-1.1049	10	0.59425	D	0.04	.	14.4855	0.67614	0.0704:0.0:0.9296:0.0	.	812	Q96Q15	SMG1_HUMAN	C	812	ENSP00000402515:R812C;ENSP00000374118:R812C	ENSP00000374118:R812C	R	-	1	0	SMG1	18789491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.363000	0.66104	1.375000	0.46248	0.555000	0.69702	CGT	SMG1	-	superfamily_ARM-type_fold		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18881990	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18881990	G	A	18881990	3	1	38	1	0	0	0	0	1	0	0	0	14825	1058	37	1	8735	1	SMG1	16	18881990	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2964775	18881990	71472763	298	5502										
SMG1	23049	genome.wustl.edu	37	chr16	18902217	18902217	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acgtcatgtacagcagccaaGatattatccaattgtttaac	6	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:18902217G>C	ENST00000446231.2	-	5	988	c.576C>G	c.(574-576)atC>atG	p.I192M	SMG1_ENST00000565224.1_Missense_Mutation_p.I166M|SMG1_ENST00000389467.3_Missense_Mutation_p.I192M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	192	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGCAGCCAAGATATTATCCA	0.249																																																	0													64	59	61					16																	18902217		1795	4046	5841	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.576C>G	16.37:g.18902217G>C	ENSP00000402515:p.Ile192Met		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I192M	ENST00000446231.2	37	c.576	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835372	0.50951	.	.	ENSG00000157106	ENST00000446231;ENST00000389467;ENST00000532700	T;T;T	0.73789	-0.78;-0.78;-0.78	4.65	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.077291	0.49305	U	0.000148	T	0.75729	0.3889	L	0.29908	0.895	0.34729	D	0.729527	D	0.65815	0.995	P	0.55055	0.767	D	0.83929	0.0305	10	0.72032	D	0.01	.	17.9167	0.88953	0.0:0.0:1.0:0.0	.	192	Q96Q15	SMG1_HUMAN	M	192;192;166	ENSP00000402515:I192M;ENSP00000374118:I192M;ENSP00000432825:I166M	ENSP00000374118:I192M	I	-	3	3	SMG1	18809718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.840000	0.62817	2.294000	0.77228	0.555000	0.69702	ATC	SMG1	-	superfamily_ARM-type_fold		0.249	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18902217	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18902217	G	C	18902217	3	2	38	1	0	0	0	0	1	0	0	0	14825	932	33	1	10645	1	SMG1	16	18902217	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	20227	18902217	71452536	299	5503										
C16orf62	57020	genome.wustl.edu	37	chr16	19644446	19644446	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aataccgttttggcagatgtCatcaagcacatgactccaga	8	10	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:19644446C>T	ENST00000251143.5	+	19	1599	c.1587C>T	c.(1585-1587)gtC>gtT	p.V529V	C16orf62_ENST00000448695.1_Silent_p.V379V|C16orf62_ENST00000542263.1_Silent_p.V551V|C16orf62_ENST00000417362.2_Silent_p.V462V|C16orf62_ENST00000543152.1_Silent_p.V278V|C16orf62_ENST00000438132.3_Silent_p.V618V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	529						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGCAGATGTCATCAAGCACA	0.428																																																	0													247	215	226					16																	19644446		2197	4300	6497	SO:0001819	synonymous_variant	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1587C>T	16.37:g.19644446C>T			A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	NULL	p.V618	ENST00000251143.5	37	c.1854		16																																																																																			C16orf62	-	NULL		0.428	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		C	NM_020314		19644446	1	no_errors	ENST00000438132	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19644446	C	T	19644446	2	4	38	1	0	0	0	0	0	0	0	1	1829	813	29	1		1	C16orf62	16	19644446	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	742229	19644446	70710307	300	5504										
LOC100132247	100132247	genome.wustl.edu	37	chr16	22545321	22545321	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccctcagcggatgataatctCaagacacctcccgagtgtct	8	14	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:22545321C>G	ENST00000517539.1	+	8	1092	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_Silent_p.L339L			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	339	Pro-rich.					integral component of membrane (GO:0016021)											ATGATAATCTCAAGACACCTC	0.562																																																	0													8	5	6					16																	22545321		82	554	636	SO:0001819	synonymous_variant	100132247				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1017C>G	16.37:g.22545321C>G			B4DK13	Silent	SNP	pfam_NPIP	p.L339	ENST00000517539.1	37	c.1017	CCDS45443.1	16																																																																																			61E3.4	-	pfam_NPIP		0.562	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100132247	Uniprot_genename	protein_coding	OTTHUMT00000374343.2	C	NM_001135865		22545321	1	no_errors	ENST00000424340	ensembl	human	known	70_37	silent	SNP	0.885	G	G	22545321	C	G	22545321	2	3	38	1	0	0	0	0	0	0	0	1	8889	813	29	1		1	LOC100132247	16	22545321	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2900875	22545321	67809432	301	5505										
SULT1A2	6799	genome.wustl.edu	37	chr16	28606917	28606917	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcaaggaagggcacccgcatGaagatgggagctcggtgaca	15	9	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:28606917G>A	ENST00000395630.1	-	3	578	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SULT1A2_ENST00000533150.1_Silent_p.F76F|SULT1A2_ENST00000335715.4_Silent_p.F76F	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	76					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GCACCCGCATGAAGATGGGAG	0.597																																																	0													94	88	90					16																	28606917		2197	4300	6497	SO:0001819	synonymous_variant	6799			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.228C>T	16.37:g.28606917G>A			A9QY25|P78393|Q14CJ7	Silent	SNP	pfam_Sulfotransferase_dom	p.F76	ENST00000395630.1	37	c.228	CCDS10636.1	16																																																																																			SULT1A2	-	pfam_Sulfotransferase_dom		0.597	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A2	HGNC	protein_coding	OTTHUMT00000109415.2	G	NM_001054		28606917	-1	no_errors	ENST00000335715	ensembl	human	known	70_37	silent	SNP	0.000	A	A	28606917	G	A	28606917	2	1	38	1	0	0	0	0	0	0	0	1	15403	1281	45	1		1	SULT1A2	16	28606917	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6061596	28606917	61747836	302	5506										
TBC1D10B	26000	genome.wustl.edu	37	chr16	30369438	30369438	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cttttcctgcttctctcgctCtttctcctgcttctgccgct	5	17	4	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:30369438C>G	ENST00000409939.3	-	9	2334	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000305596.3_5'Flank	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	752					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			ttctctcgctctttctcctgc	0.587																																																	0													163	117	133					16																	30369438		1987	3851	5838	SO:0001583	missense	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.2254G>C	16.37:g.30369438C>G	ENSP00000386538:p.Glu752Gln		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E752Q	ENST00000409939.3	37	c.2254	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141117	0.37825	.	.	ENSG00000169221	ENST00000409939	T	0.65178	-0.14	3.11	3.11	0.35812	.	0.115701	0.29783	N	0.011208	T	0.64057	0.2564	L	0.32530	0.975	0.44168	D	0.996973	D	0.76494	0.999	P	0.61275	0.886	T	0.60125	-0.7324	10	0.23302	T	0.38	.	13.7686	0.63010	0.0:1.0:0.0:0.0	.	752	Q4KMP7	TB10B_HUMAN	Q	752	ENSP00000386538:E752Q	ENSP00000386538:E752Q	E	-	1	0	TBC1D10B	30276939	0.999000	0.42202	0.969000	0.41365	0.478000	0.33099	4.618000	0.61211	1.691000	0.51100	0.313000	0.20887	GAG	TBC1D10B	-	NULL		0.587	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	C	NM_015527		30369438	-1	no_errors	ENST00000409939	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30369438	C	G	30369438	3	3	38	1	0	0	0	0	1	0	0	0	15629	922	32	1	176	1	TBC1D10B	16	30369438	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1762521	30369438	59985315	303	5507										
ZNF764	92595	genome.wustl.edu	37	chr16	30566961	30566961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcggcggccacagtcggcgcAgccatagggtttctcgccgg	16	14	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:30566961A>C	ENST00000252797.2	-	3	861	c.781T>G	c.(781-783)Tgc>Ggc	p.C261G	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.C260G	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CAGTCGGCGCAGCCATAGGGT	0.721																																																	0													4	6	5					16																	30566961		2039	4047	6086	SO:0001583	missense	92595			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.781T>G	16.37:g.30566961A>C	ENSP00000252797:p.Cys261Gly		A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C261G	ENST00000252797.2	37	c.781	CCDS10683.1	16	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288398	0.59976	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	D;D	0.85258	-1.96;-1.96	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000749	D	0.94892	0.8349	H	0.97758	4.07	0.45777	D	0.998661	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96318	0.9234	10	0.87932	D	0	-13.5261	13.3827	0.60778	1.0:0.0:0.0:0.0	.	260;261	B3KSN2;Q96H86	.;ZN764_HUMAN	G	261;260	ENSP00000252797:C261G;ENSP00000378526:C260G	ENSP00000252797:C261G	C	-	1	0	ZNF764	30474462	1.000000	0.71417	0.952000	0.39060	0.090000	0.18270	9.064000	0.93933	1.998000	0.58463	0.379000	0.24179	TGC	ZNF764	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.721	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF764	HGNC	protein_coding	OTTHUMT00000255541.1	A	NM_033410		30566961	-1	no_errors	ENST00000252797	ensembl	human	known	70_37	missense	SNP	0.991	C	C	30566961	A	C	30566961	3	2	38	1	0	0	0	0	1	0	0	0	18168	188	7	5	449	5	ZNF764	16	30566961	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	197523	30566961	59787792	304	5508										
ZNF646	9726	genome.wustl.edu	37	chr16	31088999	31088999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggctgagaccacccacaaaGaggaagaggaccccaccacc	10	15	0	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:31088999G>C	ENST00000394979.2	+	1	1777	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.E452Q			O15015	ZN646_HUMAN	zinc finger protein 646	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACCCACAAAGAGGAAGAGGA	0.627																																																	0													65	77	73					16																	31088999		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1354G>C	16.37:g.31088999G>C	ENSP00000378429:p.Glu452Gln		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E452Q	ENST00000394979.2	37	c.1354		16	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795261	0.16327	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08984	3.03;3.04	5.82	4.87	0.63330	.	.	.	.	.	T	0.11110	0.0271	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.51229	0.663	T	0.24512	-1.0158	9	0.27082	T	0.32	-1.2716	13.604	0.62037	0.0754:0.0:0.9246:0.0	.	452	O15015-2	.	Q	452	ENSP00000300850:E452Q;ENSP00000378429:E452Q	ENSP00000300850:E452Q	E	+	1	0	ZNF646	30996500	0.047000	0.20315	0.004000	0.12327	0.200000	0.23975	2.138000	0.42140	1.472000	0.48140	0.655000	0.94253	GAG	ZNF646	-	NULL		0.627	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31088999	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.330	C	C	31088999	G	C	31088999	3	2	38	1	0	0	0	0	1	0	0	0	18092	943	33	1	1356	1	ZNF646	16	31088999	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	522038	31088999	59265754	305	5509										
SLC6A2	6530	genome.wustl.edu	37	chr16	55734174	55734174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccatggtcctggtgcccatcTacgtcatctataagttcctc	7	14	3	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:55734174T>C	ENST00000379906.2	+	12	1969	c.1714T>C	c.(1714-1716)Tac>Cac	p.Y572H	SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y467H|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y572H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y527H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y572H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y572H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	572					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTGCCCATCTACGTCATCTA	0.622																																																	0													101	87	91					16																	55734174		2198	4300	6498	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1714T>C	16.37:g.55734174T>C	ENSP00000369237:p.Tyr572His		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.Y572H	ENST00000379906.2	37	c.1714	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543431	0.45280	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.75821	-0.97;-0.97	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87593	0.6216	M	0.88450	2.955	0.51233	D	0.999919	D;D;D	0.63880	0.984;0.993;0.993	P;D;D	0.70016	0.882;0.95;0.967	D	0.89755	0.3943	10	0.66056	D	0.02	.	14.3744	0.66862	0.0:0.0:0.0:1.0	.	286;467;572	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	H	572;286;572;572	ENSP00000369237:Y572H;ENSP00000219833:Y572H	ENSP00000219833:Y572H	Y	+	1	0	SLC6A2	54291675	1.000000	0.71417	0.587000	0.28692	0.138000	0.21146	7.607000	0.82883	2.022000	0.59522	0.533000	0.62120	TAC	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	T			55734174	1	no_errors	ENST00000219833	ensembl	human	known	70_37	missense	SNP	0.823	C	C	55734174	T	C	55734174	3	2	38	1	0	0	0	0	1	0	0	0	14713	1522	53	5	1851	5	SLC6A2	16	55734174	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	24645175	55734174	34620579	306	5510										
CETP	1071	genome.wustl.edu	37	chr16	57015564	57015564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcttttttatttcaggattaCaccaaagactgtttccaact	5	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:57015564C>T	ENST00000566128.1	+	13	1292	c.1025C>T	c.(1024-1026)aCa>aTa	p.T342I	CETP_ENST00000200676.3_Missense_Mutation_p.T407I|CETP_ENST00000379780.2_Missense_Mutation_p.T347I					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TTCAGGATTACACCAAAGACT	0.473																																																	0													113	118	116					16																	57015564		2198	4300	6498	SO:0001583	missense	1071			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1025C>T	16.37:g.57015564C>T	ENSP00000456276:p.Thr342Ile			Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.T407I	ENST00000566128.1	37	c.1220		16	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043518	0.19748	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.09445	2.98;2.98	2.78	-1.41	0.08941	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	2.967980	0.01653	U	0.024664	T	0.07908	0.0198	N	0.14661	0.345	0.09310	N	1	P;P	0.44195	0.828;0.539	B;B	0.41988	0.372;0.116	T	0.33111	-0.9881	10	0.20046	T	0.44	-16.7321	9.3798	0.38306	0.3165:0.6835:0.0:0.0	.	347;407	P11597-2;P11597	.;CETP_HUMAN	I	407;347	ENSP00000200676:T407I;ENSP00000369106:T347I	ENSP00000200676:T407I	T	+	2	0	CETP	55573065	0.000000	0.05858	0.000000	0.03702	0.390000	0.30446	0.114000	0.15520	-0.320000	0.08640	0.462000	0.41574	ACA	CETP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer		0.473	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000432305.1	C	NM_000078		57015564	1	no_errors	ENST00000200676	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57015564	C	T	57015564	3	4	38	1	0	0	0	0	1	0	0	0	3282	478	17	4	1270	4	CETP	16	57015564	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1281390	57015564	33339189	307	5511										
ZFHX3	463	genome.wustl.edu	37	chr16	72992896	72992896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggctgctcggggccagcggcGgagcccgctgggagagcttc	19	13	0	1	rs201339061	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:72992896G>A	ENST00000268489.5	-	2	1821	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	383					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCCAGCGGCGGAGCCCGCTG	0.582																																																	0													47	61	56					16																	72992896		2197	4298	6495	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1149C>T	16.37:g.72992896G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S383	ENST00000268489.5	37	c.1149	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72992896	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	0.690	A	A	72992896	G	A	72992896	2	1	38	1	0	0	0	0	0	0	0	1	17664	1103	39	2		2	ZFHX3	16	72992896	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	15977332	72992896	17361857	308	5512										
WWOX	51741	genome.wustl.edu	37	chr16	78420775	78420775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agcataaagccaaggtagaaGcaatgaccctggacctcgct	10	11	0	2	rs11545029	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:78420775G>A	ENST00000566780.1	+	6	901	c.535G>A	c.(535-537)Gca>Aca	p.A179T	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A179T|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	179	Interaction with MAPT. {ECO:0000250}.		A -> T (in dbSNP:rs12918952). {ECO:0000269|PubMed:11572989, ECO:0000269|Ref.5}.		cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAAGGTAGAAGCAATGACCCT	0.418													G|||	1319	0.263379	0.1067	0.4035	5008	,	,		17481	0.0635		0.6064	False		,,,				2504	0.229																0								G	THR/ALA	757,3125		69,619,1253	116	109	111		535	5.5	1	16	dbSNP_121	111	4823,3443		1405,2013,715	yes	missense	WWOX	NM_016373.2	58	1474,2632,1968	AA,AG,GG		41.6526,19.5003,45.9335	benign	179/415	78420775	5580,6568	1941	4133	6074	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.535G>A	16.37:g.78420775G>A	ENSP00000457230:p.Ala179Thr		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.A179T	ENST00000566780.1	37	c.535	CCDS42196.1	16	714	0.3269230769230769	64	0.13008130081300814	151	0.4171270718232044	43	0.07517482517482517	456	0.6015831134564644	G	16.46	3.128484	0.56721	0.195003	0.583474	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.87650	-2.28	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.058121	0.64402	D	0.000002	T	0.00012	0.0000	N	0.25031	0.7	0.22468	P	0.999079915	B	0.24132	0.098	B	0.27076	0.076	T	0.45160	-0.9280	9	0.42905	T	0.14	.	19.4505	0.94865	0.0:0.0:1.0:0.0	rs12918952;rs52836483;rs12918952	179	Q9NZC7	WWOX_HUMAN	T	179;22	ENSP00000386161:A179T	ENSP00000299644:A22T	A	+	1	0	WWOX	76978276	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.072000	0.89496	2.597000	0.87782	0.655000	0.94253	GCA	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.418	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	G			78420775	1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78420775	G	A	78420775	3	1	38	1	0	0	0	0	1	0	0	0	17445	971	34	4	619	4	WWOX	16	78420775	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5427879	78420775	11933978	309	5513										
USP10	9100	genome.wustl.edu	37	chr16	84808824	84808824	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgccaccgaacctatcggctCtttgcaggtgagtaaatttg	10	10	1	1	rs774298	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:84808824C>G	ENST00000219473.7	+	13	2315	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L	USP10_ENST00000570191.1_Silent_p.L738L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	734	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L734L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCTATCGGCTCTTTGCAGGTG	0.398													c|||	2179	0.435104	0.3079	0.3818	5008	,	,		20790	0.506		0.6163	False		,,,				2504	0.3855																1	Substitution - coding silent(1)	stomach(1)						C		1235,2437		217,801,818	74	71	72		2202	-9.5	0.8	16	dbSNP_86	72	5013,3165		1528,1957,604	no	coding-synonymous	USP10	NM_005153.2		1745,2758,1422	GG,GC,CC		38.7014,33.6329,47.2743		734/799	84808824	6248,5602	1836	4089	5925	SO:0001819	synonymous_variant	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2202C>G	16.37:g.84808824C>G			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19	p.L738	ENST00000219473.7	37	c.2214	CCDS45537.1	16																																																																																			USP10	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.398	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	C			84808824	1	no_errors	ENST00000570191	ensembl	human	known	70_37	silent	SNP	0.820	G	G	84808824	C	G	84808824	2	3	38	1	0	0	0	0	0	0	0	1	17072	900	32	1		1	USP10	16	84808824	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	6388049	84808824	5545929	310	5514										
CDH15	1013	genome.wustl.edu	37	chr16	89245823	89245823	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acgcatctgtctttgttgcaGagcctctgcctgtctttggg	11	11	4	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr16:89245823G>C	ENST00000289746.2	+	2	107		c.e2-1		CDH15_ENST00000521087.1_Splice_Site	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTTTGTTGCAGAGCCTCTGCC	0.701																																																	0													133	114	121					16																	89245823		2198	4300	6498	SO:0001630	splice_region_variant	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.43-1G>C	16.37:g.89245823G>C				Splice_Site	SNP	-	e2-1	ENST00000289746.2	37	c.43-1	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213642	0.39102	.	.	ENSG00000129910	ENST00000289746	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2246	0.59907	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH15	87773324	0.871000	0.30034	0.933000	0.37362	0.159000	0.22180	2.390000	0.44416	2.104000	0.64026	0.407000	0.27541	.	CDH15	-	-		0.701	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	G	NM_004933	Intron	89245823	1	no_errors	ENST00000289746	ensembl	human	known	70_37	splice_site	SNP	0.744	C	C	89245823	G	C	89245823	5	2	38	1	0	0	0	0	0	0	1	0	3105	956	33	1	48	1	CDH15	16	89245823	Splice_Site	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4436999	89245823	1108930	311	5515										
ASPA	443	genome.wustl.edu	37	chr17	3397702	3397702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	attatagagaaagttgattaCccccgggatgaaaatggaga	11	5	0	4	rs12948217	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:3397702C>T	ENST00000263080.2	+	5	851	c.693C>T	c.(691-693)taC>taT	p.Y231Y	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.Y231Y	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	231			Y -> C (in CAND). {ECO:0000269|PubMed:10564886}.		aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AAGTTGATTACCCCCGGGATG	0.343													t|||	1020	0.203674	0.2345	0.1844	5008	,	,		20080	0.0496		0.3101	False		,,,				2504	0.2249																0			GRCh37	CM940123	ASPA	M	rs12948217	T	,	1075,3331	722.2+/-409.3	127,821,1255	179	200	192	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	693,693	3.5	1	17	dbSNP_121	192	2687,5913	683.3+/-403.9	446,1795,2059	no	coding-synonymous,coding-synonymous	ASPA	NM_000049.2,NM_001128085.1	,	573,2616,3314	TT,TC,CC		31.2442,24.3985,28.9251	,	231/314,231/314	3397702	3762,9244	2203	4300	6503	SO:0001819	synonymous_variant	443			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.693C>T	17.37:g.3397702C>T				Silent	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.Y231	ENST00000263080.2	37	c.693	CCDS11028.1	17																																																																																			ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase		0.343	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	C	NM_000049		3397702	1	no_errors	ENST00000263080	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3397702	C	T	3397702	2	4	38	1	0	0	0	0	0	0	0	1	1051	518	18	4		4	ASPA	17	3397702	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		3397702	77797508	312	5516										
SPNS3	201305	genome.wustl.edu	37	chr17	4389826	4389826	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gggggcggctgcttcctgctGactgcgctgtacctggagag	17	11	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:4389826G>A	ENST00000355530.2	+	11	1678	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	SPNS3_ENST00000333476.2_Silent_p.L339L|RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	466					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCTTCCTGCTGACTGCGCTGT	0.677																																																	0													37	40	39					17																	4389826		2203	4300	6503	SO:0001819	synonymous_variant	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1398G>A	17.37:g.4389826G>A			Q8IZ31	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L466	ENST00000355530.2	37	c.1398	CCDS11045.1	17																																																																																			SPNS3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.677	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	G	NM_182538		4389826	1	no_errors	ENST00000355530	ensembl	human	known	70_37	silent	SNP	0.836	A	A	4389826	G	A	4389826	2	1	38	1	0	0	0	0	0	0	0	1	15106	1277	45	1		1	SPNS3	17	4389826	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	992124	4389826	76805384	313	5517										
MYH3	4621	genome.wustl.edu	37	chr17	10538311	10538311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctgcctcaacctgttcctcgGaatcttgaaggcgctgagca	10	13	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:10538311G>A	ENST00000583535.1	-	31	4289	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1401F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1401					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTTCCTCGGAATCTTGAAG	0.433																																																	0													98	96	97					17																	10538311		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4202C>T	17.37:g.10538311G>A	ENSP00000464317:p.Ser1401Phe		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1401F	ENST00000583535.1	37	c.4202	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740574	0.89573	.	.	ENSG00000109063	ENST00000226209	T	0.77877	-1.13	5.34	5.34	0.76211	Myosin tail (1);	.	.	.	.	T	0.80476	0.4630	L	0.48642	1.525	0.52501	D	0.999954	P	0.41420	0.749	P	0.47705	0.555	T	0.82002	-0.0673	9	0.72032	D	0.01	.	19.3898	0.94576	0.0:0.0:1.0:0.0	.	1401	P11055	MYH3_HUMAN	F	1401	ENSP00000226209:S1401F	ENSP00000226209:S1401F	S	-	2	0	MYH3	10479036	1.000000	0.71417	0.949000	0.38748	0.972000	0.66771	8.000000	0.88501	2.640000	0.89533	0.655000	0.94253	TCC	MYH3	-	pfam_Myosin_tail		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10538311	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10538311	G	A	10538311	3	1	38	1	0	0	0	0	1	0	0	0	10059	1174	41	1	1664	1	MYH3	17	10538311	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6148485	10538311	70656899	314	5518										
NCOR1	9611	genome.wustl.edu	37	chr17	16012109	16012109	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttttgagataccttcgctgtCttctggattttcttcttcat	6	9	5	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:16012109C>G	ENST00000268712.3	-	19	2430	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H	NCOR1_ENST00000395848.1_Missense_Mutation_p.D616H|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.D725H	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	725					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCTTCGCTGTCTTCTGGATTT	0.378																																																	0													120	113	116					17																	16012109		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2173G>C	17.37:g.16012109C>G	ENSP00000268712:p.Asp725His		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D725H	ENST00000268712.3	37	c.2173	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226407	0.58668	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.47177	0.85;0.85;0.85	5.31	5.31	0.75309	.	0.091270	0.64402	D	0.000001	T	0.65333	0.2681	L	0.55481	1.735	0.80722	D	1	B;D;D	0.89917	0.326;0.999;1.0	B;D;D	0.87578	0.113;0.995;0.998	T	0.64080	-0.6491	10	0.45353	T	0.12	-13.0551	17.9624	0.89090	0.0:1.0:0.0:0.0	.	616;725;725	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	H	725;725;616;616	ENSP00000268712:D725H;ENSP00000379192:D725H;ENSP00000379189:D616H	ENSP00000268712:D725H	D	-	1	0	NCOR1	15952834	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.483000	0.73617	2.489000	0.83994	0.591000	0.81541	GAC	NCOR1	-	NULL		0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	C	NM_006311		16012109	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16012109	C	G	16012109	3	3	38	1	0	0	0	0	1	0	0	0	10259	913	32	1	5261	1	NCOR1	17	16012109	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5473798	16012109	65183101	315	5519										
FBXW10	10517	genome.wustl.edu	37	chr17	18659415	18659415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aaacgcagcaggtcctgataGaggagagaaatgttttctgt	12	6	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:18659415G>C	ENST00000395665.4	+	6	1401	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	FBXW10_ENST00000308799.4_Missense_Mutation_p.E423Q|FBXW10_ENST00000301938.4_Missense_Mutation_p.E394Q|FBXW10_ENST00000395667.1_Missense_Mutation_p.E394Q			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	394										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTCCTGATAGAGGAGAGAAA	0.458																																																	0													169	149	156					17																	18659415		2203	4300	6503	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1180G>C	17.37:g.18659415G>C	ENSP00000379025:p.Glu394Gln		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E423Q	ENST00000395665.4	37	c.1267	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930957	0.18131	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61510	1.75;0.1;1.75;1.75	2.89	2.89	0.33648	F-box domain, Skp2-like (1);	0.000000	0.39615	U	0.001320	T	0.65657	0.2712	M	0.74258	2.255	0.44515	D	0.997463	P;D;P;P	0.52996	0.734;0.957;0.615;0.946	B;P;B;P	0.52793	0.421;0.709;0.241;0.637	T	0.70066	-0.4974	10	0.56958	D	0.05	.	11.2575	0.49063	0.0:0.0:1.0:0.0	.	394;423;394;394	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	Q	394;423;394;394	ENSP00000379026:E394Q;ENSP00000310382:E423Q;ENSP00000306937:E394Q;ENSP00000379025:E394Q	ENSP00000306937:E394Q	E	+	1	0	FBXW10	18600140	1.000000	0.71417	0.990000	0.47175	0.099000	0.18886	6.705000	0.74644	1.439000	0.47511	0.184000	0.17185	GAG	FBXW10	-	superfamily_F-box_dom_cyclin-like		0.458	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	G	NM_031456		18659415	1	no_errors	ENST00000308799	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18659415	G	C	18659415	3	2	38	1	0	0	0	0	1	0	0	0	5781	943	33	1	1202	1	FBXW10	17	18659415	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2647306	18659415	62535795	316	5520										
MAP2K3	5606	genome.wustl.edu	37	chr17	21215457	21215457	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccctgtccccgctgcagattGagatggccatcctgcggttc	11	15	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:21215457G>C	ENST00000342679.4	+	10	1027	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	MAP2K3_ENST00000316920.6_Missense_Mutation_p.E231Q|MAP2K3_ENST00000361818.5_Missense_Mutation_p.E231Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTGCAGATTGAGATGGCCAT	0.682																																																	0													59	59	59					17																	21215457		2203	4300	6503	SO:0001583	missense	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.778G>C	17.37:g.21215457G>C	ENSP00000345083:p.Glu260Gln		B3KSK7|Q99441|Q9UE71|Q9UE72	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.E260Q	ENST00000342679.4	37	c.778	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743528	0.89663	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.55760	0.5;0.5	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.77267	0.4105	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79787	-0.1656	10	0.87932	D	0	-51.728	20.1306	0.97998	0.0:0.0:1.0:0.0	.	260	P46734	MP2K3_HUMAN	Q	260;231;231;264	ENSP00000345083:E260Q;ENSP00000355081:E231Q	ENSP00000319139:E264Q	E	+	1	0	MAP2K3	21156050	1.000000	0.71417	0.978000	0.43139	0.603000	0.37013	9.690000	0.98676	2.751000	0.94390	0.655000	0.94253	GAG	MAP2K3	-	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		0.682	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	G	NM_145109		21215457	1	no_errors	ENST00000342679	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21215457	G	C	21215457	3	2	38	1	0	0	0	0	1	0	0	0	9261	1291	45	1	816	1	MAP2K3	17	21215457	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2556042	21215457	59979753	317	5521										
CORO6	84940	genome.wustl.edu	37	chr17	27943318	27943318	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttgcggggcacagtcatgatGataggttcacactttctttc	10	9	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:27943318G>A	ENST00000445145.2	-	8	1042	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	CORO6_ENST00000345068.5_Silent_p.I347I|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.I347I|CORO6_ENST00000456796.3_Silent_p.I113I|CORO6_ENST00000580212.1_Silent_p.I307I|CORO6_ENST00000388767.3_Silent_p.I347I|CORO6_ENST00000577909.1_5'UTR			Q6QEF8	CORO6_HUMAN	coronin 6	347					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGTCATGATGATAGGTTCAC	0.572																																																	0													72	61	65					17																	27943318		2201	4300	6501	SO:0001819	synonymous_variant	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1041C>T	17.37:g.27943318G>A			B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I347	ENST00000445145.2	37	c.1041		17																																																																																			CORO6	-	pfam_DUF1900		0.572	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	G	NM_032854		27943318	-1	no_errors	ENST00000345068	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27943318	G	A	27943318	2	1	38	1	0	0	0	0	0	0	0	1	3763	1280	45	1		1	CORO6	17	27943318	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6727861	27943318	53251892	318	5522										
ZNF207	7756	genome.wustl.edu	37	chr17	30692393	30692393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggaattcctccaatgactCaagcacaggctgtttcagcg	9	12	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:30692393C>G	ENST00000321233.6	+	7	821	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E	ZNF207_ENST00000394670.4_Missense_Mutation_p.Q239E|ZNF207_ENST00000341711.6_Missense_Mutation_p.Q140E|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q239E|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q242E|ZNF207_ENST00000577908.1_Missense_Mutation_p.Q239E	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	223					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCAATGACTCAAGCACAGGC	0.483																																																	0													87	81	83					17																	30692393		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.667C>G	17.37:g.30692393C>G	ENSP00000322777:p.Gln223Glu		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.Q239E	ENST00000321233.6	37	c.715	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407738	0.83340	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.45276	0.97;0.9	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.52386	0.1731	L	0.43152	1.355	0.58432	D	0.999999	B;B;B;B;P	0.43578	0.368;0.368;0.368;0.368;0.811	B;B;B;B;P	0.57960	0.078;0.078;0.078;0.078;0.83	T	0.24476	-1.0159	10	0.06625	T	0.88	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	223;242;239;239;223	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	E	239;223;242;239;140;223	ENSP00000378165:Q239E;ENSP00000344913:Q140E	ENSP00000322777:Q239E	Q	+	1	0	ZNF207	27716506	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.757000	0.85209	2.784000	0.95788	0.585000	0.79938	CAA	ZNF207	-	NULL		0.483	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	C			30692393	1	no_errors	ENST00000394670	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30692393	C	G	30692393	3	3	38	1	0	0	0	0	1	0	0	0	17795	827	29	1	745	1	ZNF207	17	30692393	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2749075	30692393	50502817	319	5523										
KRTAP4-7	100132476	genome.wustl.edu	37	chr17	39240673	39240673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcgccccacctgctgtgagaCgacctgctgccaccctaggt	10	17	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:39240673C>G	ENST00000391417.4	+	1	215	c.215C>G	c.(214-216)aCg>aGg	p.T72R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	72	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCTGTGAGACGACctgctgc	0.652																																																	0													18	30	27					17																	39240673		691	1591	2282	SO:0001583	missense	100132476			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.215C>G	17.37:g.39240673C>G	ENSP00000375236:p.Thr72Arg		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.T72R	ENST00000391417.4	37	c.215	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	5.135	0.210550	0.09757	.	.	ENSG00000240871	ENST00000391417	T	0.01388	4.95	3.54	1.35	0.21983	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.27286	0.174	B	0.30572	0.117	T	0.46871	-0.9160	8	0.72032	D	0.01	.	6.5286	0.22314	0.0:0.706:0.183:0.111	.	72	Q9BYR0	KRA47_HUMAN	R	72	ENSP00000375236:T72R	ENSP00000375236:T72R	T	+	2	0	KRTAP4-7	36494199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.962000	0.29280	0.093000	0.17368	-0.398000	0.06409	ACG	KRTAP4-7	-	pfam_Keratin-assoc		0.652	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	C			39240673	1	no_errors	ENST00000391417	ensembl	human	known	70_37	missense	SNP	0.004	G	G	39240673	C	G	39240673	3	3	38	1	0	0	0	0	1	0	0	0	8575	536	19	2	217	2	KRTAP4-7	17	39240673	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	8548280	39240673	41954537	320	5524										
KRTAP4-8	728224	genome.wustl.edu	37	chr17	39254335	39254336	+	Start_Codon_Ins	INS	-	-	T													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccacaacaggagttgaccaINStggtgtcagagggtgaagga					rs201764113	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:39254335_39254336insT	ENST00000333822.4	-	0	57_58					NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8						aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGAGTTGACCATGGTGTCAGAG	0.55													T|T|TT|insertion	2826	0.564297	0.6543	0.6124	5008	,	,		18816	0.4147		0.6183	False		,,,				2504	0.5072																0										2669,1587		858,953,317						3.6	1			26	5156,3084		1626,1904,590	no	frameshift	KRTAP4-8	NM_031960.2		2484,2857,907	A1A1,A1R,RR		37.4272,37.2885,37.38				7825,4671				SO:0001582	initiator_codon_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.2dupA	17.37:g.39254336_39254336dupT			A8MSH3	Frame_Shift_Ins	INS	pfam_Keratin-assoc	p.M1fs	ENST00000333822.4	37	c.2_1	CCDS45674.1	17																																																																																			KRTAP4-8	-	NULL		0.55	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	HGNC	protein_coding	OTTHUMT00000257684.1	-	NM_031960		39254336	-1	no_errors	ENST00000333822	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	39254336	-	T	39254335	7	5	38	1	0	1	1	0	0	0	0	0	8576	217	8	0	559	0	KRTAP4-8	17	39254335	Start_Codon_Ins	INS	-	TCGA-C5-A3HE-01A-21D-A22X-09	13662	39254335	41940875	321	5525										
NT5C3L	115024	genome.wustl.edu	37	chr17	39991472	39991472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tactgtaagaagaagggcatCgctttccattatatgcaaac	8	8	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:39991472C>T	ENST00000435506.2	-	3	233	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000521789.1_Missense_Mutation_p.R22Q|KLHL10_ENST00000293303.4_5'Flank|NT5C3B_ENST00000269534.8_Missense_Mutation_p.R47Q			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	55					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										AGAAGGGCATCGCTTTCCATT	0.403																																																	0													127	112	117					17																	39991472		2203	4300	6503	SO:0001583	missense	115024				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic III-like"	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.164G>A	17.37:g.39991472C>T	ENSP00000389948:p.Arg55Gln		A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.R47Q	ENST00000435506.2	37	c.140	CCDS11410.2	17	.	.	.	.	.	.	.	.	.	.	C	31	5.095210	0.94197	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	4.56	3.58	0.41010	HAD-like domain (1);	0.062956	0.64402	D	0.000013	D	0.90051	0.6893	M	0.80847	2.515	0.51767	D	0.99993	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.68353	0.683;0.957;0.683	D	0.89901	0.4044	10	0.41790	T	0.15	1.8599	14.3371	0.66598	0.0:0.8505:0.1495:0.0	.	55;22;47	C9JKC4;E5RH64;Q969T7	.;.;5NT3L_HUMAN	Q	47;22;89;55;55	ENSP00000269534:R47Q;ENSP00000429878:R22Q;ENSP00000389948:R55Q;ENSP00000397742:R55Q	ENSP00000269534:R47Q	R	-	2	0	NT5C3L	37244998	0.990000	0.36364	0.998000	0.56505	0.987000	0.75469	5.747000	0.68689	1.122000	0.41944	0.558000	0.71614	CGA	NT5C3L	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu		0.403	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NT5C3L	HGNC	protein_coding	OTTHUMT00000257430.2	C	NM_052935		39991472	-1	no_errors	ENST00000269534	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39991472	C	T	39991472	3	4	38	1	0	0	0	0	1	0	0	0	10713	884	31	1	766	1	NT5C3L	17	39991472	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	737137	39991472	41203738	322	5526										
TUBG2	27175	genome.wustl.edu	37	chr17	40818755	40818755	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agggaggttgttcaggagctCattgatgagtaccatgcggc	15	7	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:40818755C>T	ENST00000251412.7	+	11	1492	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	431					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TTCAGGAGCTCATTGATGAGT	0.537																																																	0													119	100	106					17																	40818755		2203	4300	6503	SO:0001819	synonymous_variant	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1293C>T	17.37:g.40818755C>T			A6NDI4|Q32NB2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.L431	ENST00000251412.7	37	c.1293	CCDS32658.1	17																																																																																			TUBG2	-	superfamily_Tub_FtsZ_C,prints_Gamma_tubulin		0.537	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	C	NM_016437		40818755	1	no_errors	ENST00000251412	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40818755	C	T	40818755	2	4	38	1	0	0	0	0	0	0	0	1	16796	813	29	1		1	TUBG2	17	40818755	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	827283	40818755	40376455	323	5527										
PLEKHH3	79990	genome.wustl.edu	37	chr17	40820270	40820270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agagctgctgcagggcctctCgggggaggggttggccaagt	19	9	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:40820270C>T	ENST00000591022.1	-	13	2644	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E576K|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.E750K	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	753	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCCTCTCGGGGGAGGGG	0.637																																																	0													33	40	37					17																	40820270		2203	4300	6503	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2257G>A	17.37:g.40820270C>T	ENSP00000468678:p.Glu753Lys		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E753K	ENST00000591022.1	37	c.2257	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756375	0.89843	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	D	0.88818	-2.43	4.61	4.61	0.57282	FERM domain (1);	0.137838	0.33309	N	0.005052	T	0.69495	0.3117	N	0.02539	-0.55	0.23640	N	0.997223	B	0.25105	0.118	B	0.16722	0.016	T	0.53472	-0.8434	10	0.02654	T	1	-14.5469	13.1262	0.59356	0.0:1.0:0.0:0.0	.	753	Q7Z736	PKHH3_HUMAN	K	753;576	ENSP00000411885:E576K	ENSP00000293349:E753K	E	-	1	0	PLEKHH3	38073796	0.937000	0.31787	0.991000	0.47740	0.995000	0.86356	2.347000	0.44036	2.564000	0.86499	0.555000	0.69702	GAG	PLEKHH3	-	pfscan_FERM_domain		0.637	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	C	NM_024927		40820270	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	0.992	T	T	40820270	C	T	40820270	3	4	38	1	0	0	0	0	1	0	0	0	12102	893	31	1	128	1	PLEKHH3	17	40820270	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1515	40820270	40374940	324	5528										
NMT1	4836	genome.wustl.edu	37	chr17	43171154	43171154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcacctgggatgctttggacCtgggcgatcgtggtgtggtg	17	8	1	0	rs1132898	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:43171154C>T	ENST00000592782.1	+	5	618	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Silent_p.L163L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	163					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TGCTTTGGACCTGGGCGATCG	0.592													C|||	997	0.199081	0.3616	0.134	5008	,	,		16891	0.0367		0.1769	False		,,,				2504	0.2157																0								C		1432,2974	464.5+/-353.9	247,938,1018	79	65	70		487	4.1	1	17	dbSNP_86	70	1747,6853	316.3+/-312.7	170,1407,2723	no	coding-synonymous	NMT1	NM_021079.3		417,2345,3741	TT,TC,CC		20.314,32.5011,24.4426		163/497	43171154	3179,9827	2203	4300	6503	SO:0001819	synonymous_variant	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.487C>T	17.37:g.43171154C>T			A8K7C1|Q9UE09	Silent	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.L163	ENST00000592782.1	37	c.487	CCDS11494.1	17																																																																																			NMT1	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.592	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	C	NM_021079		43171154	1	no_errors	ENST00000258960	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43171154	C	T	43171154	2	4	38	1	0	0	0	0	0	0	0	1	10527	680	24	4		4	NMT1	17	43171154	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2350884	43171154	38024056	325	5529										
LRRC37A	9884	genome.wustl.edu	37	chr17	44374710	44374710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctactacagaggttaaaccAtctccaaccacggaggagac	8	13	1	2	rs62073222	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:44374710A>G	ENST00000320254.5	+	1	2214	c.2211A>G	c.(2209-2211)ccA>ccG	p.P737P	ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000393465.3_Silent_p.P737P|LRRC37A_ENST00000496930.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	737						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTTAAACCATCTCCAACCA	0.517													.|||	3389	0.676717	0.3147	0.7046	5008	,	,		21665	0.8909		0.6789	False		,,,				2504	0.9233																0													1	1	1					17																	44374710		79	123	202	SO:0001819	synonymous_variant	9884			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.2211A>G	17.37:g.44374710A>G			Q68DY2|Q8IWC7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P737	ENST00000320254.5	37	c.2211	CCDS11504.2	17																																																																																			LRRC37A	-	NULL		0.517	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	A	NM_014834		44374710	1	no_errors	ENST00000320254	ensembl	human	known	70_37	silent	SNP	0.000	G	G	44374710	A	G	44374710	2	3	38	1	0	0	0	0	0	0	0	1	9014	204	8	5		5	LRRC37A	17	44374710	Silent	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	1203556	44374710	36820500	326	5530										
LRRC37A	9884	genome.wustl.edu	37	chr17	44374957	44374957	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ataaggctttaactgcaccaGaggaacacaaggcctccaca	8	12	0	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:44374957G>C	ENST00000320254.5	+	1	2461	c.2458G>C	c.(2458-2460)Gag>Cag	p.E820Q	ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.E820Q|LRRC37A_ENST00000496930.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	820						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AACTGCACCAGAGGAACACAA	0.493																																																	0													1	1	1					17																	44374957		13	15	28	SO:0001583	missense	9884			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.2458G>C	17.37:g.44374957G>C	ENSP00000326324:p.Glu820Gln		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E820Q	ENST00000320254.5	37	c.2458	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	g	3.046	-0.196370	0.06259	.	.	ENSG00000176681	ENST00000393466;ENST00000393465;ENST00000320254	T;T	0.60920	0.16;0.15	2.36	-1.58	0.08479	.	.	.	.	.	T	0.43545	0.1252	L	0.52573	1.65	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.29212	-1.0019	9	0.28530	T	0.3	.	3.9209	0.09244	0.333:0.3054:0.3616:0.0	.	820	A6NMS7	L37A1_HUMAN	Q	820	ENSP00000377108:E820Q;ENSP00000326324:E820Q	ENSP00000326324:E820Q	E	+	1	0	LRRC37A	41730734	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.338000	0.07842	-0.325000	0.08577	0.175000	0.17021	GAG	LRRC37A	-	NULL		0.493	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	G	NM_014834		44374957	1	no_errors	ENST00000320254	ensembl	human	known	70_37	missense	SNP	0.000	C	C	44374957	G	C	44374957	3	2	38	1	0	0	0	0	1	0	0	0	9014	943	33	1	2460	1	LRRC37A	17	44374957	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	247	44374957	36820253	327	5531										
EME1	146956	genome.wustl.edu	37	chr17	48452978	48452979	+	In_Frame_Ins	INS	-	-	AGC													0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgcatcatgtgactggaaaaINSagccctttccaaagatccct					rs76993288|rs36080231|rs67225428|rs558756129|rs3060668	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:48452978_48452979insAGC	ENST00000338165.4	+	2	491_492	c.409_410insAGC	c.(409-411)aag>aAGCag	p.137_138insQ	MRPL27_ENST00000442592.3_5'Flank|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|EME1_ENST00000393271.2_In_Frame_Ins_p.137_138insQ|MRPL27_ENST00000507088.1_5'Flank|EME1_ENST00000511648.2_In_Frame_Ins_p.137_138insQ	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	137					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGACTGGAAAAAGCCCTTTCCA	0.47								Direct reversal of damage;Homologous recombination						2233	0.445887	0.7269	0.5836	5008	,	,		21332	0.1111		0.4473	False		,,,				2504	0.3119																0									,	2895,1369		988,919,225					,	1	0.9		dbSNP_130	80	3907,4347		928,2051,1148	no	coding,coding	EME1	NM_152463.2,NM_001166131.1	,	1916,2970,1373	A1A1,A1R,RR		47.3346,32.106,45.6622	,	,		6802,5716				SO:0001652	inframe_insertion	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.410_412dupAGC	17.37:g.48452979_48452981dupAGC	ENSP00000339897:p.Lys137_Pro138insGln		Q96N62	In_Frame_Ins	INS	pfam_ERCC4_domain,smart_ERCC4_domain	p.138in_frame_insQ	ENST00000338165.4	37	c.409_410	CCDS11565.1	17																																																																																			EME1	-	NULL		0.47	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EME1	HGNC	protein_coding	OTTHUMT00000367118.3	-	NM_152463		48452979	1	no_errors	ENST00000393271	ensembl	human	known	70_37	in_frame_ins	INS	0.140:0.176	AGC	AGC	48452979	-	AGC	48452978	7	5	38	1	0	1	1	0	0	0	0	0	5100	15	1	0	411	0	EME1	17	48452978	In_Frame_Ins	INS	-	TCGA-C5-A3HE-01A-21D-A22X-09	4078021	48452978	32742232	328	5532										
EPX	8288	genome.wustl.edu	37	chr17	56277684	56277684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agctccgggaccggctgtttCggcaagtgaggaggattggg	18	8	0	1	rs150579989	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:56277684C>T	ENST00000225371.5	+	10	1746	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	546					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCGGCTGTTTCGGCAAGTGAG	0.637											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0	0	5008	,	,		17683	0		0.001	False		,,,				2504	0.001																0								C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	67	66	66		1636	-2.8	0	17	dbSNP_134	66	22,8578	16.0+/-53.3	0,22,4278	yes	missense	EPX	NM_000502.4	101	0,25,6478	TT,TC,CC		0.2558,0.0681,0.1922	probably-damaging	546/716	56277684	25,12981	2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1636C>T	17.37:g.56277684C>T	ENSP00000225371:p.Arg546Trp	1014	Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R546W	ENST00000225371.5	37	c.1636	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021520	0.54576	6.81E-4	0.002558	ENSG00000121053	ENST00000225371	T	0.70516	-0.49	5.66	-2.77	0.05877	.	0.953121	0.08899	N	0.877571	T	0.71484	0.3345	M	0.74389	2.26	0.09310	N	1	D	0.61080	0.989	P	0.53185	0.72	T	0.62305	-0.6882	10	0.66056	D	0.02	-0.0147	1.7466	0.02963	0.2837:0.2379:0.3278:0.1506	.	546	P11678	PERE_HUMAN	W	546	ENSP00000225371:R546W	ENSP00000225371:R546W	R	+	1	2	EPX	53632683	0.000000	0.05858	0.005000	0.12908	0.593000	0.36681	0.006000	0.13152	-0.101000	0.12219	-0.123000	0.14984	CGG	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.637	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	C	NM_000502		56277684	1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.001	T	T	56277684	C	T	56277684	3	4	38	1	0	0	0	0	1	0	0	0	5212	875	31	1	1674	1	EPX	17	56277684	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	7824706	56277684	24917526	329	5533										
MRC2	9902	genome.wustl.edu	37	chr17	60749358	60749358	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctctcctgctgcacccccaGaggtggaggagctgtggatc	13	14	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:60749358G>A	ENST00000303375.5	+	8	1708		c.e8-1			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCCCCAGAGGTGGAGGA	0.557																																																	0													78	80	79					17																	60749358		2203	4300	6503	SO:0001630	splice_region_variant	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1307-1G>A	17.37:g.60749358G>A			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Splice_Site	SNP	-	e8-1	ENST00000303375.5	37	c.1307-1	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529114	0.64860	.	.	ENSG00000011028	ENST00000303375	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.877	0.88828	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRC2	58103090	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.497000	0.97970	2.209000	0.71365	0.462000	0.41574	.	MRC2	-	-		0.557	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	G		Intron	60749358	1	no_errors	ENST00000303375	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	60749358	G	A	60749358	5	1	38	1	0	0	0	0	0	0	1	0	9781	956	33	1	1336	1	MRC2	17	60749358	Splice_Site	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4471674	60749358	20445852	330	5534										
COG1	9382	genome.wustl.edu	37	chr17	71193055	71193055	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctaggtcaactattctgcatGaaagcaagatgttgctcaaa	8	8	3	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:71193055G>A	ENST00000299886.4	+	3	657	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	193					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TATTCTGCATGAAAGCAAGAT	0.463																																																	0													71	72	72					17																	71193055		2203	4300	6503	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.577G>A	17.37:g.71193055G>A	ENSP00000299886:p.Glu193Lys		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.E193K	ENST00000299886.4	37	c.577	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745488	0.49151	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.21932	1.98;1.98	5.4	5.4	0.78164	.	0.108682	0.64402	D	0.000009	T	0.21347	0.0514	L	0.38175	1.15	0.80722	D	1	D;B;D	0.54601	0.967;0.224;0.967	P;B;P	0.45971	0.499;0.152;0.499	T	0.02477	-1.1153	10	0.08179	T	0.78	-11.3422	19.1592	0.93524	0.0:0.0:1.0:0.0	.	193;193;193	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	K	193	ENSP00000400111:E193K;ENSP00000299886:E193K	ENSP00000299886:E193K	E	+	1	0	COG1	68704650	1.000000	0.71417	0.964000	0.40570	0.539000	0.34962	7.415000	0.80131	2.537000	0.85549	0.655000	0.94253	GAA	COG1	-	NULL		0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	G			71193055	1	no_errors	ENST00000299886	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71193055	G	A	71193055	3	1	38	1	0	0	0	0	1	0	0	0	3662	1291	45	1	587	1	COG1	17	71193055	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	10443697	71193055	10002155	331	5535										
TBC1D16	125058	genome.wustl.edu	37	chr17	77984012	77984012	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctctcggccagcgccgcgctGatgggcgagaggcagaaggg	18	12	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:77984012G>A	ENST00000310924.2	-	3	841	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	242	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCGCCGCGCTGATGGGCGAGA	0.637																																					Ovarian(14;397 562 4850 31922 49378)												0													42	43	43					17																	77984012		2203	4300	6503	SO:0001819	synonymous_variant	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.726C>T	17.37:g.77984012G>A			B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.I242	ENST00000310924.2	37	c.726	CCDS11766.1	17																																																																																			TBC1D16	-	NULL		0.637	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	G	NM_019020		77984012	-1	no_errors	ENST00000310924	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77984012	G	A	77984012	2	1	38	1	0	0	0	0	0	0	0	1	15635	1280	45	1		1	TBC1D16	17	77984012	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6790957	77984012	3211198	332	5536										
ZNF750	79755	genome.wustl.edu	37	chr17	80788294	80788294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacagggccacggctgccgtCtgcttctgctcctcgctgct	11	17	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr17:80788294C>G	ENST00000269394.3	-	3	2729	c.1896G>C	c.(1894-1896)caG>caC	p.Q632H	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.Q233H|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	632					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGGCTGCCGTCTGCTTCTGCT	0.726																																																	0													32	34	33					17																	80788294		2202	4298	6500	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1896G>C	17.37:g.80788294C>G	ENSP00000269394:p.Gln632His		Q9H899	Missense_Mutation	SNP	NULL	p.Q632H	ENST00000269394.3	37	c.1896	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426435	0.62733	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.15952	2.38	5.42	-0.742	0.11108	.	0.000000	0.64402	D	0.000020	T	0.33673	0.0871	M	0.65498	2.005	0.49483	D	0.999798	D	0.89917	1.0	D	0.91635	0.999	T	0.02743	-1.1116	9	.	.	.	-27.5599	11.068	0.47987	0.0:0.5706:0.0:0.4294	.	632	Q32MQ0	ZN750_HUMAN	H	632;225	ENSP00000269394:Q632H	.	Q	-	3	2	ZNF750	78381583	0.850000	0.29656	0.969000	0.41365	0.632000	0.37999	-0.096000	0.11059	-0.060000	0.13132	-0.218000	0.12543	CAG	ZNF750	-	NULL		0.726	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	C	NM_024702		80788294	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	0.999	G	G	80788294	C	G	80788294	3	3	38	1	0	0	0	0	1	0	0	0	18162	912	32	1	279	1	ZNF750	17	80788294	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2804282	80788294	406916	333	5537										
DLGAP1	9229	genome.wustl.edu	37	chr18	3508607	3508607	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tctctgaactggtagaatttCtgggccatgagaagttgggc	13	7	2	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:3508607C>T	ENST00000315677.3	-	11	3127	c.2532G>A	c.(2530-2532)caG>caA	p.Q844Q	DLGAP1_ENST00000515196.2_Silent_p.Q844Q|DLGAP1_ENST00000400147.2_Silent_p.Q542Q|DLGAP1_ENST00000400150.3_Silent_p.Q560Q|DLGAP1_ENST00000400155.1_Silent_p.Q550Q|DLGAP1_ENST00000400149.3_Silent_p.Q534Q|DLGAP1_ENST00000581699.1_Silent_p.Q550Q|DLGAP1_ENST00000400145.2_Silent_p.Q542Q|DLGAP1_ENST00000584874.1_Silent_p.Q844Q|DLGAP1_ENST00000581527.1_Silent_p.Q844Q|DLGAP1_ENST00000539435.1_Silent_p.Q552Q|DLGAP1_ENST00000534970.1_Silent_p.Q528Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	844					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTAGAATTTCTGGGCCATGA	0.438																																																	0													73	66	69					18																	3508607		2203	4300	6503	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2532G>A	18.37:g.3508607C>T			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.Q844	ENST00000315677.3	37	c.2532	CCDS11836.1	18																																																																																			DLGAP1	-	pfam_GKAP		0.438	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	C			3508607	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3508607	C	T	3508607	2	4	38	1	0	0	0	0	0	0	0	1	4569	912	32	1		1	DLGAP1	18	3508607	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		3508607	74568641	334	5538										
LAMA1	284217	genome.wustl.edu	37	chr18	6983109	6983109	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtttcctaccaggctcgtctCagtcacagtcctgtgagcat	9	13	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:6983109C>T	ENST00000389658.3	-	40	5878	c.5785G>A	c.(5785-5787)Gag>Aag	p.E1929K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1929	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGGCTCGTCTCAGTCACAGTC	0.517																																																	0													105	100	102					18																	6983109		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5785G>A	18.37:g.6983109C>T	ENSP00000374309:p.Glu1929Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1929K	ENST00000389658.3	37	c.5785	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338255	0.24253	.	.	ENSG00000101680	ENST00000389658	T	0.18016	2.24	5.23	-10.5	0.00291	.	1.768100	0.02808	N	0.123967	T	0.08626	0.0214	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14531	-1.0469	10	0.13853	T	0.58	.	10.0415	0.42162	0.0:0.2819:0.2192:0.4989	.	1929	P25391	LAMA1_HUMAN	K	1929	ENSP00000374309:E1929K	ENSP00000374309:E1929K	E	-	1	0	LAMA1	6973109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.907000	0.01589	-3.841000	0.00100	-1.835000	0.00590	GAG	LAMA1	-	NULL		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		6983109	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.000	T	T	6983109	C	T	6983109	3	4	38	1	0	0	0	0	1	0	0	0	8625	835	29	1	3538	1	LAMA1	18	6983109	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3474502	6983109	71094139	335	5539										
DSG4	147409	genome.wustl.edu	37	chr18	28983423	28983423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaaccatatgtattgaggttCctgatatcaatgattattgt	8	5	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:28983423C>T	ENST00000308128.4	+	11	1597	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P488S|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P488T(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTGAGGTTCCTGATATCAA	0.383																																																	2	Substitution - Missense(2)	lung(2)											97	88	91					18																	28983423		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1462C>T	18.37:g.28983423C>T	ENSP00000311859:p.Pro488Ser		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.P488S	ENST00000308128.4	37	c.1462	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292155	0.40594	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.60040	0.22;0.22	5.71	4.82	0.62117	Cadherin (4);Cadherin-like (1);	0.509237	0.14813	N	0.296908	T	0.60932	0.2307	M	0.75447	2.3	0.30742	N	0.746096	B;B	0.28258	0.134;0.205	B;B	0.30029	0.045;0.11	T	0.62300	-0.6883	10	0.36615	T	0.2	.	15.532	0.75970	0.0:0.6235:0.3765:0.0	.	488;488	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	488	ENSP00000311859:P488S;ENSP00000352785:P488S	ENSP00000311859:P488S	P	+	1	0	DSG4	27237421	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.417000	0.34770	1.508000	0.48769	0.655000	0.94253	CCT	DSG4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmo_cadherin		0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	C	NM_177986		28983423	1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28983423	C	T	28983423	3	4	38	1	0	0	0	0	1	0	0	0	4789	855	30	1	1504	1	DSG4	18	28983423	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	22000314	28983423	49093825	336	5540										
C18orf34	374864	genome.wustl.edu	37	chr18	30926288	30926288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttaaagcttcttcagcgtctGcccggtcagtttctagactt	8	11	5	1	rs373863286		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:30926288G>T	ENST00000383096.3	-	9	727	c.545C>A	c.(544-546)gCa>gAa	p.A182E	CCDC178_ENST00000402325.1_Missense_Mutation_p.A182E|CCDC178_ENST00000406524.2_Missense_Mutation_p.A182E|CCDC178_ENST00000579947.1_Missense_Mutation_p.A182E|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.A182E|CCDC178_ENST00000403303.1_Missense_Mutation_p.A182E|CCDC178_ENST00000583930.1_Missense_Mutation_p.A182E			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	182																	TTCAGCGTCTGCCCGGTCAGT	0.383																																																	0													107	102	104					18																	30926288		2203	4300	6503	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.545C>A	18.37:g.30926288G>T	ENSP00000372576:p.Ala182Glu		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.A182E	ENST00000383096.3	37	c.545	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456428	0.26161	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.45668	2.48;2.48;2.48;2.48;2.48;0.89	5.59	3.66	0.41972	.	.	.	.	.	T	0.51432	0.1674	L	0.52573	1.65	0.27438	N	0.953813	D;D;D;D	0.76494	0.999;0.991;0.991;0.991	D;P;P;P	0.76575	0.988;0.889;0.889;0.889	T	0.34428	-0.9829	9	0.19590	T	0.45	-20.9434	7.4853	0.27429	0.0:0.1467:0.5948:0.2586	.	182;182;182;182	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	E	182	ENSP00000385591:A182E;ENSP00000372576:A182E;ENSP00000300227:A182E;ENSP00000385867:A182E;ENSP00000385234:A182E;ENSP00000382130:A182E	ENSP00000300227:A182E	A	-	2	0	C18orf34	29180286	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	2.887000	0.48586	2.636000	0.89361	0.557000	0.71058	GCA	CCDC178	-	NULL		0.383	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	G	NM_198995		30926288	-1	no_errors	ENST00000406524	ensembl	human	known	70_37	missense	SNP	0.996	T	T	30926288	G	T	30926288	3	4	38	1	0	0	0	0	1	0	0	0	1907	1319	46	4	2118	4	C18orf34	18	30926288	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1942865	30926288	47150960	337	5541										
ASXL3	80816	genome.wustl.edu	37	chr18	31319867	31319867	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gatttgcacaataagaccctGagtcagcaaacctgtaaatc	7	10	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:31319867G>A	ENST00000269197.5	+	11	2499	c.2499G>A	c.(2497-2499)ctG>ctA	p.L833L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	833					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATAAGACCCTGAGTCAGCAAA	0.398																																																	0													68	66	67					18																	31319867		1897	4124	6021	SO:0001819	synonymous_variant	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2499G>A	18.37:g.31319867G>A			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.L833	ENST00000269197.5	37	c.2499	CCDS45847.1	18																																																																																			ASXL3	-	NULL		0.398	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	G			31319867	1	no_errors	ENST00000269197	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31319867	G	A	31319867	2	1	38	1	0	0	0	0	0	0	0	1	1069	1277	45	1		1	ASXL3	18	31319867	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	393579	31319867	46757381	338	5542										
MYO5B	4645	genome.wustl.edu	37	chr18	47480737	47480737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ttggacatgcggggcttctgGaagtgctggctgctggagtg	18	7	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:47480737G>T	ENST00000285039.7	-	13	1913	c.1614C>A	c.(1612-1614)ttC>ttA	p.F538L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	538	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGGCTTCTGGAAGTGCTGGC	0.572																																																	0													84	94	91					18																	47480737		2039	4185	6224	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1614C>A	18.37:g.47480737G>T	ENSP00000285039:p.Phe538Leu		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F538L	ENST00000285039.7	37	c.1614	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773848	0.90108	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.89415	-2.51	4.79	4.79	0.61399	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	M	0.64630	1.985	0.80722	D	1	B;B	0.33919	0.078;0.432	B;B	0.36766	0.232;0.158	D	0.88657	0.3186	10	0.49607	T	0.09	.	17.4649	0.87629	0.0:0.0:1.0:0.0	.	537;538	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	L	538;537	ENSP00000285039:F538L	ENSP00000285039:F538L	F	-	3	2	MYO5B	45734735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.172000	0.50832	2.192000	0.70111	0.462000	0.41574	TTC	MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	G			47480737	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47480737	G	T	47480737	3	4	38	1	0	0	0	0	1	0	0	0	10102	1165	41	3	4044	3	MYO5B	18	47480737	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	16160870	47480737	30596511	339	5543										
ALPK2	115701	genome.wustl.edu	37	chr18	56203891	56203891	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctccttccctagagcttgcGggtgagtgggccgtgggcac	16	12	0	2	rs3809978	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:56203891G>T	ENST00000361673.3	-	5	3741	c.3528C>A	c.(3526-3528)ccC>ccA	p.P1176P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1176						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGAGCTTGCGGGTGAGTGGG	0.577													T|||	3364	0.671725	0.4675	0.6772	5008	,	,		19124	0.7966		0.7674	False		,,,				2504	0.7168																0								T		2276,2130	578.0+/-384.6	597,1082,524	89	79	82		3528	-6	0	18	dbSNP_107	82	6606,1994	347.7+/-326.7	2550,1506,244	no	coding-synonymous	ALPK2	NM_052947.3		3147,2588,768	TT,TG,GG		23.186,48.3432,31.7084		1176/2171	56203891	8882,4124	2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3528C>A	18.37:g.56203891G>T			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.P1176	ENST00000361673.3	37	c.3528	CCDS11966.2	18																																																																																			ALPK2	-	NULL		0.577	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56203891	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	silent	SNP	0.000	T	T	56203891	G	T	56203891	2	4	38	1	0	0	0	0	0	0	0	1	545	1103	39	2		2	ALPK2	18	56203891	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	8723154	56203891	21873357	340	5544										
CDH7	1005	genome.wustl.edu	37	chr18	63477135	63477135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccaacaaacccgtggagcccGagtcggagtttgtcatcaaa	10	12	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:63477135G>A	ENST00000397968.2	+	3	832	c.406G>A	c.(406-408)Gag>Aag	p.E136K	CDH7_ENST00000323011.3_Missense_Mutation_p.E136K|CDH7_ENST00000536984.2_Missense_Mutation_p.E136K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	136	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGTGGAGCCCGAGTCGGAGTT	0.527																																																	0													72	71	71					18																	63477135		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.406G>A	18.37:g.63477135G>A	ENSP00000381058:p.Glu136Lys		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E136K	ENST00000397968.2	37	c.406	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996440	0.74818	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53640	0.61;0.61;0.61	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.117108	0.56097	D	0.000022	T	0.50034	0.1592	L	0.58810	1.83	0.53005	D	0.999969	P;B	0.36171	0.541;0.096	B;B	0.35688	0.208;0.019	T	0.51148	-0.8742	10	0.54805	T	0.06	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	136;136	F5H5X9;Q9ULB5	.;CADH7_HUMAN	K	136	ENSP00000319166:E136K;ENSP00000443030:E136K;ENSP00000381058:E136K	ENSP00000319166:E136K	E	+	1	0	CDH7	61628115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.979000	0.63806	2.767000	0.95098	0.650000	0.86243	GAG	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63477135	1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63477135	G	A	63477135	3	1	38	1	0	0	0	0	1	0	0	0	3120	1059	37	1	412	1	CDH7	18	63477135	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	7273244	63477135	14600113	341	5545										
TXNL4A	10907	genome.wustl.edu	37	chr18	77737623	77737623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaaaaacatgacagtacatgGatcgtataactcatacattt	6	7	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr18:77737623G>A	ENST00000269601.5	-	2	432	c.232C>T	c.(232-234)Cca>Tca	p.P78S	TXNL4A_ENST00000592837.1_Missense_Mutation_p.P7S|TXNL4A_ENST00000592957.1_Missense_Mutation_p.P7S|TXNL4A_ENST00000591711.1_Missense_Mutation_p.P78S|TXNL4A_ENST00000588162.1_Intron|TXNL4A_ENST00000585474.1_Missense_Mutation_p.P7S	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	78					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		ACAGTACATGGATCGTATAAC	0.294																																					Ovarian(160;2333 2597 11821 36245)												0													127	124	125					18																	77737623		2203	4300	6503	SO:0001583	missense	10907			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"similar to S. pombe dim1+"	611595	"thioredoxin-like 4"	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.232C>T	18.37:g.77737623G>A	ENSP00000269601:p.Pro78Ser		B2RC18|O14834	Missense_Mutation	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.P78S	ENST00000269601.5	37	c.232	CCDS32852.1	18	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281894	0.80692	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	5.72	5.72	0.89469	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	H	0.97465	4.01	0.80722	D	1	P;P	0.46142	0.873;0.863	P;P	0.56088	0.791;0.69	D	0.91457	0.5186	9	0.56958	D	0.05	-19.1613	19.4579	0.94903	0.0:0.0:1.0:0.0	.	78;78	O14835;P83876	.;TXN4A_HUMAN	S	78	.	ENSP00000269601:P78S	P	-	1	0	TXNL4A	75838611	1.000000	0.71417	0.911000	0.35937	0.535000	0.34838	8.348000	0.90064	2.700000	0.92200	0.453000	0.30009	CCA	TXNL4A	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5		0.294	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4A	HGNC	protein_coding	OTTHUMT00000451036.1	G	NM_006701		77737623	-1	no_errors	ENST00000269601	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77737623	G	A	77737623	3	1	38	1	0	0	0	0	1	0	0	0	16836	1174	41	1	204	1	TXNL4A	18	77737623	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	14260488	77737623	339625	342	5546										
STK11	6794	genome.wustl.edu	37	chr19	1220433	1220433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gccagggcattgtgcacaagGacatcaagccggggaacctg	14	11	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:1220433G>A	ENST00000326873.7	+	4	1699	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in PJS; loss of kinase activity, leading to greatly reduced autophosphorylation; fails to phosphorylate PTEN in vitro; no significant effect on nucleocytoplasmic localization). {ECO:0000269|PubMed:9837816}.|D -> Y (in sporadic cancer; somatic mutation; Loss of kinase activity).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.D176Y(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCACAAGGACATCAAGCC	0.657		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	29	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)|Substitution - Missense(1)	cervix(15)|lung(10)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	GRCh37	CM981867	STK11	M							44	51	49					19																	1220433		2101	4242	6343	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.526G>A	19.37:g.1220433G>A	ENSP00000324856:p.Asp176Asn		B2RBX7|E7EW76	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.D176N	ENST00000326873.7	37	c.526	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.202493	0.94997	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.92965	-3.14	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093272	0.64402	D	0.000001	D	0.97748	0.9261	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	-57.5296	18.5988	0.91240	0.0:0.0:1.0:0.0	.	176	Q15831	STK11_HUMAN	N	176	ENSP00000324856:D176N	ENSP00000324856:D176N	D	+	1	0	STK11	1171433	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	9.729000	0.98795	2.644000	0.89710	0.561000	0.74099	GAC	STK11	-	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		0.657	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1220433	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1220433	G	A	1220433	3	1	38	1	0	0	0	0	1	0	0	0	15317	1174	41	1	540	1	STK11	19	1220433	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		1220433	57908550	343	5547										
TMPRSS9	360200	genome.wustl.edu	37	chr19	2425109	2425109	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acaagcacccgttctacaatCtctacacgctcgactacgac	5	16	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:2425109C>T	ENST00000332578.3	+	15	2725	c.2725C>T	c.(2725-2727)Ctc>Ttc	p.L909F		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	909	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCTACAATCTCTACACGCT	0.716																																																	0													17	14	15					19																	2425109		2192	4285	6477	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2725C>T	19.37:g.2425109C>T	ENSP00000330264:p.Leu909Phe		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.L909F	ENST00000332578.3	37	c.2725	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336464	0.60963	.	.	ENSG00000178297	ENST00000332578	D	0.88664	-2.41	4.08	1.65	0.23941	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.275088	0.25127	N	0.032932	T	0.79661	0.4484	N	0.05124	-0.11	0.24817	N	0.992606	P	0.52692	0.955	P	0.53360	0.724	T	0.70425	-0.4875	10	0.31617	T	0.26	.	5.3476	0.16018	0.3074:0.3302:0.3623:0.0	.	909	Q7Z410	TMPS9_HUMAN	F	909	ENSP00000330264:L909F	ENSP00000330264:L909F	L	+	1	0	TMPRSS9	2376109	0.876000	0.30132	1.000000	0.80357	0.989000	0.77384	0.580000	0.23803	0.636000	0.30508	0.561000	0.74099	CTC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.716	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	C	NM_182973		2425109	1	no_errors	ENST00000332578	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2425109	C	T	2425109	3	4	38	1	0	0	0	0	1	0	0	0	16283	913	32	1	2783	1	TMPRSS9	19	2425109	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1204676	2425109	56703874	344	5548										
PTPRS	5802	genome.wustl.edu	37	chr19	5273571	5273571	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tggatcctcagcactgccccTgcactctcatcaaactcaat	5	16	4	0	rs1141371	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:5273571T>G	ENST00000587303.1	-	3	360	c.261A>C	c.(259-261)gcA>gcC	p.A87A	PTPRS_ENST00000592099.1_Silent_p.A87A|PTPRS_ENST00000353284.2_Silent_p.A87A|PTPRS_ENST00000588012.1_Silent_p.A87A|PTPRS_ENST00000262963.6_Silent_p.A87A|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.A87A|PTPRS_ENST00000372412.4_Silent_p.A87A|PTPRS_ENST00000348075.2_Silent_p.A87A|PTPRS_ENST00000590509.1_Silent_p.A87A			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	87	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCACTGCCCCTGCACTCTCAT	0.582													T|||	819	0.163538	0.2943	0.1527	5008	,	,		20134	0.002		0.2266	False		,,,				2504	0.0961																0								T	,,,	1168,3238	412.4+/-336.1	151,866,1186	94	82	86		261,261,261,261	-8	0.6	19	dbSNP_86	86	1924,6676	339.9+/-323.4	208,1508,2584	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	359,2374,3770	GG,GT,TT		22.3721,26.5093,23.7736	,,,	87/1949,87/1502,87/1911,87/1506	5273571	3092,9914	2203	4300	6503	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.261A>C	19.37:g.5273571T>G			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.A87	ENST00000587303.1	37	c.261	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	T			5273571	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	0.079	G	G	5273571	T	G	5273571	2	3	38	1	0	0	0	0	0	0	0	1	12841	1567	55	5		5	PTPRS	19	5273571	Silent	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	2848462	5273571	53855412	345	5549										
RANBP3	8498	genome.wustl.edu	37	chr19	5925689	5925689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tagttcgttgcggttggcgtGtctgcgctggggtgtccagc	17	9	1	0	rs199604597		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:5925689G>T	ENST00000340578.6	-	10	930	c.873C>A	c.(871-873)gaC>gaA	p.D291E	RANBP3_ENST00000591092.1_Missense_Mutation_p.D218E|RANBP3_ENST00000034275.8_Missense_Mutation_p.D223E|RANBP3_ENST00000439268.2_Missense_Mutation_p.D286E|RANBP3_ENST00000541471.1_Missense_Mutation_p.D163E	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	291					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGGTTGGCGTGTCTGCGCTGG	0.602																																																	0								G	GLU/ASP,GLU/ASP,GLU/ASP	0,4250		0,0,2125	84	92	89		858,669,873	-2.6	0.1	19		89	3,8439		0,3,4218	yes	missense,missense,missense	RANBP3	NM_003624.2,NM_007320.2,NM_007322.2	45,45,45	0,3,6343	TT,TG,GG		0.0355,0.0,0.0236	benign,benign,benign	286/563,223/500,291/568	5925689	3,12689	2125	4221	6346	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.873C>A	19.37:g.5925689G>T	ENSP00000341483:p.Asp291Glu		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.D291E	ENST00000340578.6	37	c.873	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.212330	0.01555	0.0	3.55E-4	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.27557	1.68;1.68;2.41;1.66	5.19	-2.63	0.06133	.	0.547712	0.21417	N	0.074893	T	0.07638	0.0192	N	0.01493	-0.835	0.26635	N	0.9724	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.002;0.002;0.001	T	0.34428	-0.9829	10	0.07644	T	0.81	-7.1892	7.5124	0.27581	0.0:0.1587:0.5345:0.3068	.	163;286;163;218;223;286;291	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	E	291;286;223;222;163	ENSP00000341483:D291E;ENSP00000404837:D286E;ENSP00000034275:D223E;ENSP00000445071:D163E	ENSP00000034275:D223E	D	-	3	2	RANBP3	5876689	0.000000	0.05858	0.093000	0.20910	0.290000	0.27261	-0.870000	0.04228	-0.829000	0.04268	-0.397000	0.06425	GAC	RANBP3	-	NULL		0.602	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	G	NM_007322		5925689	-1	no_errors	ENST00000340578	ensembl	human	known	70_37	missense	SNP	0.656	T	T	5925689	G	T	5925689	3	4	38	1	0	0	0	0	1	0	0	0	13059	1368	48	4	862	4	RANBP3	19	5925689	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	652118	5925689	53203294	346	5550										
SLC25A41	284427	genome.wustl.edu	37	chr19	6433695	6433695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gttctgaggttccccaggctGagcgcccatggaggaagtta	14	10	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:6433695G>A	ENST00000321510.6	-	1	78	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TCCCCAGGCTGAGCGCCCATG	0.562																																																	0													31	31	31					19																	6433695		1944	4151	6095	SO:0001587	stop_gained	284427			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"Solute carriers"	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.10C>T	19.37:g.6433695G>A	ENSP00000322649:p.Gln4*			Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q4*	ENST00000321510.6	37	c.10	CCDS45937.1	19	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966634	0.53507	.	.	ENSG00000181240	ENST00000321510;ENST00000458275	.	.	.	3.09	-2.96	0.05547	.	0.974568	0.08352	U	0.959071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5996	0.17347	0.0:0.3153:0.2972:0.3876	.	.	.	.	X	4	.	ENSP00000322649:Q4X	Q	-	1	0	SLC25A41	6384695	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.043000	0.13971	-0.384000	0.07845	0.313000	0.20887	CAG	SLC25A41	-	NULL		0.562	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	G	NM_173637		6433695	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	6433695	G	A	6433695	4	1	38	1	0	0	0	0	0	1	0	0	14536	1299	45	1	1130	1	SLC25A41	19	6433695	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	508006	6433695	52695288	347	5551										
MUC16	94025	genome.wustl.edu	37	chr19	9084975	9084975	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cttgaagtcaactcatgagtGagagatgaaatggttctaaa	10	5	3	5			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:9084975G>A	ENST00000397910.4	-	1	7043	c.6840C>T	c.(6838-6840)ctC>ctT	p.L2280L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2280	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCATGAGTGAGAGATGAAA	0.458																																																	0													57	55	56					19																	9084975		1916	4140	6056	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6840C>T	19.37:g.9084975G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L2280	ENST00000397910.4	37	c.6840	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9084975	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.043	A	A	9084975	G	A	9084975	2	1	38	1	0	0	0	0	0	0	0	1	9996	1277	45	1		1	MUC16	19	9084975	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2651280	9084975	50044008	348	5552										
DNM2	1785	genome.wustl.edu	37	chr19	10886548	10886548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atggacctggccaactccgaCgccctcaagctggccaagga	11	15	1	0	rs140788791	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:10886548C>T	ENST00000355667.6	+	4	635	c.555C>T	c.(553-555)gaC>gaT	p.D185D	DNM2_ENST00000585892.1_Silent_p.D185D|DNM2_ENST00000408974.4_Silent_p.D185D|DNM2_ENST00000314646.5_Silent_p.D185D|DNM2_ENST00000359692.6_Silent_p.D185D|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000389253.4_Silent_p.D185D	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	185	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAACTCCGACGCCCTCAAGC	0.602			"F, N, Splice, Mis, O"		ETP ALL																																			Rec	yes		19	19p13.2	1785	dynamin 2		L	0								C	,,,,	0,4406		0,0,2203	62	57	59		555,555,555,555,555	-10.8	0	19	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNM2	NM_001005360.2,NM_001005361.2,NM_001005362.2,NM_001190716.1,NM_004945.3	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	185/871,185/871,185/867,185/870,185/867	10886548	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.555C>T	19.37:g.10886548C>T			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.D185	ENST00000355667.6	37	c.555	CCDS45968.1	19																																																																																			DNM2	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin		0.602	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	C	NM_004945		10886548	1	no_errors	ENST00000314646	ensembl	human	known	70_37	silent	SNP	0.015	T	T	10886548	C	T	10886548	2	4	38	1	0	0	0	0	0	0	0	1	4682	535	19	2		2	DNM2	19	10886548	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1801573	10886548	48242435	349	5553										
FCHO1	23149	genome.wustl.edu	37	chr19	17883355	17883355	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtggaggacacgcacgtgcaGattgggcaggtgagttgggc	19	7	0	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:17883355G>C	ENST00000596536.1	+	10	967	c.684G>C	c.(682-684)caG>caC	p.Q228H	FCHO1_ENST00000389133.4_Missense_Mutation_p.Q228H|FCHO1_ENST00000539407.1_Missense_Mutation_p.Q228H|FCHO1_ENST00000594202.1_Missense_Mutation_p.Q228H|FCHO1_ENST00000597512.1_Missense_Mutation_p.Q235H|FCHO1_ENST00000252771.7_Missense_Mutation_p.Q228H|FCHO1_ENST00000595033.1_Missense_Mutation_p.Q178H|FCHO1_ENST00000596951.1_Missense_Mutation_p.Q228H|FCHO1_ENST00000600676.1_Missense_Mutation_p.Q228H	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	228	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCACGTGCAGATTGGGCAGG	0.612																																																	0													126	98	107					19																	17883355		2203	4300	6503	SO:0001583	missense	23149			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.684G>C	19.37:g.17883355G>C	ENSP00000470731:p.Gln228His		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH	p.Q228H	ENST00000596536.1	37	c.684	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036867	0.54896	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.43294	0.95;0.95;0.95	4.71	0.925	0.19424	.	0.055988	0.64402	D	0.000001	T	0.51584	0.1683	M	0.68593	2.085	0.36509	D	0.869468	D;D;D	0.89917	0.998;0.999;1.0	P;D;D	0.71656	0.905;0.946;0.974	T	0.55885	-0.8070	10	0.51188	T	0.08	-24.2655	3.0935	0.06302	0.0989:0.1744:0.5472:0.1795	.	178;228;228	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	H	228	ENSP00000252771:Q228H;ENSP00000373785:Q228H;ENSP00000437978:Q228H	ENSP00000252771:Q228H	Q	+	3	2	FCHO1	17744355	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	1.451000	0.35145	0.627000	0.30340	0.561000	0.74099	CAG	FCHO1	-	NULL		0.612	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	G	NM_015122		17883355	1	no_errors	ENST00000252771	ensembl	human	known	70_37	missense	SNP	0.997	C	C	17883355	G	C	17883355	3	2	38	1	0	0	0	0	1	0	0	0	5805	933	33	1	710	1	FCHO1	19	17883355	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	6996807	17883355	41245628	350	5554										
IL12RB1	3594	genome.wustl.edu	37	chr19	18179257	18179257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacaaggtgagcttctcgggGtgcgcagaggcaaagatggt	16	8	1	3	rs367647802		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:18179257G>A	ENST00000600835.2	-	12	1567	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	IL12RB1_ENST00000593993.2_Silent_p.H423H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	423	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCTTCTCGGGGTGCGCAGAGG	0.502																																																	0								G		0,4046		0,0,2023	116	117	117		1269	2	0.2	19		117	1,8347		0,1,4173	no	coding-synonymous	IL12RB1	NM_005535.1		0,1,6196	AA,AG,GG		0.012,0.0,0.0081		423/663	18179257	1,12393	2023	4174	6197	SO:0001819	synonymous_variant	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1269C>T	19.37:g.18179257G>A			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.H423	ENST00000600835.2	37	c.1269	CCDS54232.1	19																																																																																			IL12RB1	-	NULL		0.502	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	G			18179257	-1	no_errors	ENST00000430026	ensembl	human	known	70_37	silent	SNP	0.260	A	A	18179257	G	A	18179257	2	1	38	1	0	0	0	0	0	0	0	1	7646	1252	44	4		4	IL12RB1	19	18179257	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	295902	18179257	40949726	351	5555										
COPE	11316	genome.wustl.edu	37	chr19	19021788	19021788	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggggcctcacctccgactCtcgtgggcgaggtagtcagc	14	14	3	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:19021788C>A	ENST00000262812.4	-	3	330	c.282G>T	c.(280-282)gaG>gaT	p.E94D	AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000351079.4_Missense_Mutation_p.E94D|COPE_ENST00000600932.1_Missense_Mutation_p.E94D|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Missense_Mutation_p.E94D	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	94					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						ACCTCCGACTCTCGTGGGCGA	0.627																																																	0													92	80	84					19																	19021788		2203	4300	6503	SO:0001583	missense	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.282G>T	19.37:g.19021788C>A	ENSP00000262812:p.Glu94Asp		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.E94D	ENST00000262812.4	37	c.282	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.205049	0.06180	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.39229	1.09;1.09;1.09	4.8	1.01	0.19927	.	0.184840	0.48767	N	0.000178	T	0.18257	0.0438	N	0.16066	0.365	0.45307	D	0.998303	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.06356	-1.0831	10	0.11485	T	0.65	-28.9307	4.0939	0.09982	0.1348:0.5553:0.18:0.13	.	94;94;94;94	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	D	94;94;94;93	ENSP00000262812:E94D;ENSP00000345674:E94D;ENSP00000343134:E94D	ENSP00000262812:E94D	E	-	3	2	COPE	18882788	0.773000	0.28580	0.612000	0.29024	0.224000	0.24922	0.436000	0.21526	0.409000	0.25649	0.514000	0.50259	GAG	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.627	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	C	NM_007263		19021788	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	missense	SNP	0.940	A	A	19021788	C	A	19021788	3	1	38	1	0	0	0	0	1	0	0	0	3735	912	32	3	676	3	COPE	19	19021788	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	842531	19021788	40107195	352	5556										
ZNF100	163227	genome.wustl.edu	37	chr19	21910630	21910630	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acactggtttaatttgttatCatgttctttgtgcactttac	6	7	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:21910630C>T	ENST00000358296.6	-	5	682	c.484G>A	c.(484-486)Gat>Aat	p.D162N	ZNF100_ENST00000305570.6_Missense_Mutation_p.D98N	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AATTTGTTATCATGTTCTTTG	0.323																																																	0													166	168	167					19																	21910630		2051	4238	6289	SO:0001583	missense	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.484G>A	19.37:g.21910630C>T	ENSP00000351042:p.Asp162Asn		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D162N	ENST00000358296.6	37	c.484	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	8.987	0.976885	0.18812	.	.	ENSG00000197020	ENST00000358296	T	0.04758	3.56	1.44	-2.88	0.05682	.	.	.	.	.	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B;B	0.22276	0.033;0.067	B;B	0.28465	0.007;0.09	T	0.44467	-0.9326	9	0.49607	T	0.09	.	3.7996	0.08753	0.2322:0.5973:0.0:0.1704	.	162;216	Q8IYN0;Q4G131	ZN100_HUMAN;.	N	162	ENSP00000351042:D162N	ENSP00000351042:D162N	D	-	1	0	ZNF100	21702470	.	.	0.002000	0.10522	0.497000	0.33675	.	.	-0.966000	0.03587	0.174000	0.16983	GAT	ZNF100	-	NULL		0.323	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	C	NM_173531		21910630	-1	no_errors	ENST00000358296	ensembl	human	known	70_37	missense	SNP	0.001	T	T	21910630	C	T	21910630	3	4	38	1	0	0	0	0	1	0	0	0	17743	826	29	1	1148	1	ZNF100	19	21910630	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2888842	21910630	37218353	353	5557										
MAP4K1	11184	genome.wustl.edu	37	chr19	39096337	39096337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cccatcatcccccatgctccCaggaccctcgtctgatggag	8	18	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:39096337C>T	ENST00000591517.1	-	18	1262	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	MAP4K1_ENST00000589130.1_Missense_Mutation_p.G408R|MAP4K1_ENST00000589002.1_5'Flank|MAP4K1_ENST00000423454.2_Missense_Mutation_p.G74R|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G412R|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	412					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCATGCTCCCAGGACCCTCG	0.627																																																	0													15	16	16					19																	39096337		1948	4081	6029	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1234G>A	19.37:g.39096337C>T	ENSP00000465039:p.Gly412Arg			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G412R	ENST00000591517.1	37	c.1234	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	.	11.19	1.566044	0.27915	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.23950	1.88;2.88	3.92	2.87	0.33458	.	1.966200	0.02171	N	0.059702	T	0.39332	0.1074	N	0.24115	0.695	0.21105	N	0.999787	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.32402	-0.9908	10	0.62326	D	0.03	.	7.9653	0.30095	0.0:0.8783:0.0:0.1217	.	74;412;412	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	R	412;412;74	ENSP00000380066:G412R;ENSP00000396383:G74R	ENSP00000221409:G412R	G	-	1	0	MAP4K1	43788177	0.001000	0.12720	0.101000	0.21167	0.245000	0.25701	0.617000	0.24359	0.951000	0.37770	0.462000	0.41574	GGG	MAP4K1	-	NULL		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	C	NM_001042600		39096337	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	missense	SNP	0.354	T	T	39096337	C	T	39096337	3	4	38	1	0	0	0	0	1	0	0	0	9282	594	21	4	1389	4	MAP4K1	19	39096337	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	17185707	39096337	20032646	354	5558										
FCGBP	8857	genome.wustl.edu	37	chr19	40402410	40402410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcatagttgggcaggcacacGccctggccaccctgctcctt	10	16	1	0	rs2023286	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:40402410G>A	ENST00000221347.6	-	11	4996	c.4989C>T	c.(4987-4989)ggC>ggT	p.G1663G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1663						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGCACACGCCCTGGCCAC	0.642													G|||	946	0.188898	0.3464	0.1412	5008	,	,		19398	0.1359		0.1829	False		,,,				2504	0.0706																0													3	3	3					19																	40402410		1985	3897	5882	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4989C>T	19.37:g.40402410G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G1663	ENST00000221347.6	37	c.4989	CCDS12546.1	19																																																																																			FCGBP	-	smart_Fol_N,smart_VWF_type-D		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40402410	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.001	A	A	40402410	G	A	40402410	2	1	38	1	0	0	0	0	0	0	0	1	5796	1074	38	2		2	FCGBP	19	40402410	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1306073	40402410	18726573	355	5559										
CEACAM5	1048	genome.wustl.edu	37	chr19	42225080	42225080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cgcaataattccatagtcaaGagcatcacagtctctggtaa	7	10	3	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:42225080G>C	ENST00000221992.6	+	8	2124	c.2010G>C	c.(2008-2010)aaG>aaC	p.K670N	CEACAM5_ENST00000405816.1_Missense_Mutation_p.K670N|CEACAM5_ENST00000398599.4_Missense_Mutation_p.K669N|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	670	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCATAGTCAAGAGCATCACAG	0.453																																																	0													113	100	104					19																	42225080		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.2010G>C	19.37:g.42225080G>C	ENSP00000221992:p.Lys670Asn		H9KVA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K670N	ENST00000221992.6	37	c.2010	CCDS12584.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.605|6.605	0.479990|0.479990	0.12581|0.12581	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.38887	.|1.11;1.11	2.44|2.44	1.38|1.38	0.22167|0.22167	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.52565|0.52565	0.1742|0.1742	M|M	0.83603|0.83603	2.65|2.65	0.09310|0.09310	N|N	1|1	.|B;D	.|0.53619	.|0.006;0.961	.|B;P	.|0.55508	.|0.023;0.777	T|T	0.41431|0.41431	-0.9509|-0.9509	5|9	.|0.21540	.|T	.|0.41	.|.	5.1484|5.1484	0.14996|0.14996	0.1725:0.0:0.8275:0.0|0.1725:0.0:0.8275:0.0	.|.	.|670;670	.|P06731;Q53G30	.|CEAM5_HUMAN;.	Q|N	666|670;670;388	.|ENSP00000221992:K670N;ENSP00000385072:K670N	.|ENSP00000221992:K670N	E|K	+|+	1|3	0|2	CEACAM5|CEACAM5	46916920|46916920	0.002000|0.002000	0.14202|0.14202	0.004000|0.004000	0.12327|0.12327	0.011000|0.011000	0.07611|0.07611	0.471000|0.471000	0.22100|0.22100	0.572000|0.572000	0.29383|0.29383	0.467000|0.467000	0.42956|0.42956	GAG|AAG	CEACAM5	-	smart_Ig_sub,pfscan_Ig-like		0.453	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	G	NM_004363		42225080	1	no_errors	ENST00000221992	ensembl	human	known	70_37	missense	SNP	0.005	C	C	42225080	G	C	42225080	3	2	38	1	0	0	0	0	1	0	0	0	3200	933	33	1	2040	1	CEACAM5	19	42225080	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1822670	42225080	16903903	356	5560										
CEACAM8	1088	genome.wustl.edu	37	chr19	43093155	43093155	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tacccctgcatggtaataggTgtctgaaggggaaatggtgg	15	6	1	1	rs45591641	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:43093155T>A	ENST00000244336.5	-	4	840	c.739A>T	c.(739-741)Acc>Tcc	p.T247S	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	247	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TGGTAATAGGTGTCTGAAGGG	0.507																																																	0													103	99	101					19																	43093155		2203	4300	6503	SO:0001583	missense	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.739A>T	19.37:g.43093155T>A	ENSP00000244336:p.Thr247Ser		O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T247S	ENST00000244336.5	37	c.739	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	t	2.651	-0.282013	0.05642	.	.	ENSG00000124469	ENST00000244336	T	0.12774	2.65	2.41	-2.31	0.06765	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05456	0.0144	N	0.11724	0.165	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.44937	-0.9295	9	0.12430	T	0.62	.	3.3708	0.07220	0.3266:0.4322:0.0:0.2412	.	247	P31997	CEAM8_HUMAN	S	247	ENSP00000244336:T247S	ENSP00000244336:T247S	T	-	1	0	CEACAM8	47784995	0.000000	0.05858	0.002000	0.10522	0.294000	0.27393	-2.028000	0.01431	-0.266000	0.09339	0.254000	0.18369	ACC	CEACAM8	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.507	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	T			43093155	-1	no_errors	ENST00000244336	ensembl	human	known	70_37	missense	SNP	0.001	A	A	43093155	T	A	43093155	3	1	38	1	0	0	0	0	1	0	0	0	3203	1696	59	5	318	5	CEACAM8	19	43093155	Missense_Mutation	SNP	T	TCGA-C5-A3HE-01A-21D-A22X-09	868075	43093155	16035828	357	5561										
ZNF155	7711	genome.wustl.edu	37	chr19	44500677	44500677	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctcacatctgcaaactcatcAgagagtccacactggagaga	8	12	4	2	rs62640893	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:44500677A>T	ENST00000270014.2	+	5	796	c.668A>T	c.(667-669)cAg>cTg	p.Q223L	ZNF155_ENST00000590615.1_Missense_Mutation_p.Q223L|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.Q234L|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	223					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CAAACTCATCAGAGAGTCCAC	0.428													A|||	26	0.00519169	0.0068	0.0043	5008	,	,		23473	0		0.002	False		,,,				2504	0.0123				NSCLC(61;554 1277 20909 42067 42312)												0								A	LEU/GLN,LEU/GLN	25,4381	31.7+/-61.6	1,23,2179	140	137	138		668,668	1.5	0	19	dbSNP_129	138	39,8561	26.3+/-74.7	0,39,4261	no	missense,missense	ZNF155	NM_003445.2,NM_198089.1	113,113	1,62,6440	TT,TA,AA		0.4535,0.5674,0.4921	possibly-damaging,possibly-damaging	223/539,223/539	44500677	64,12942	2203	4300	6503	SO:0001583	missense	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.668A>T	19.37:g.44500677A>T	ENSP00000270014:p.Gln223Leu		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q223L	ENST00000270014.2	37	c.668	CCDS12634.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.48|18.48	3.633909|3.633909	0.67130|0.67130	0.005674|0.005674	0.004535|0.004535	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.05580|.	3.42;3.42|.	2.59|2.59	1.48|1.48	0.22813|0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.16257|.	0.0391|.	N|N	0.11756|0.11756	0.17|0.17	0.23657|0.23657	N|N	0.997188|0.997188	P;D|.	0.57899|.	0.813;0.981|.	P;P|.	0.62649|.	0.755;0.905|.	T|.	0.20706|.	-1.0267|.	9|.	0.62326|0.87932	D|D	0.03|0	.|.	6.8359|6.8359	0.23935|0.23935	0.7917:0.0:0.0:0.2083|0.7917:0.0:0.0:0.2083	rs62640893|rs62640893	234;223|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	L|X	234;223|97	ENSP00000385163:Q234L;ENSP00000270014:Q223L|.	ENSP00000270014:Q223L|ENSP00000401576:R97X	Q|R	+|+	2|1	0|2	ZNF155|ZNF155	49192517|49192517	0.000000|0.000000	0.05858|0.05858	0.029000|0.029000	0.17559|0.17559	0.601000|0.601000	0.36947|0.36947	-0.729000|-0.729000	0.04920|0.04920	0.183000|0.183000	0.20059|0.20059	0.379000|0.379000	0.24179|0.24179	CAG|AGA	ZNF155	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	HGNC	protein_coding	OTTHUMT00000460074.1	A	NM_003445		44500677	1	no_errors	ENST00000270014	ensembl	human	known	70_37	missense	SNP	0.947	T	T	44500677	A	T	44500677	3	4	38	1	0	0	0	0	1	0	0	0	17766	188	7	5	682	5	ZNF155	19	44500677	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	1407522	44500677	14628306	358	5562										
FOSB	2354	genome.wustl.edu	37	chr19	45975845	45975845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggaagaaaaagcagagctgGagtcggagatcgccgagctc	15	8	0	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:45975845G>C	ENST00000353609.3	+	4	1184	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	FOSB_ENST00000443841.2_Missense_Mutation_p.E55Q|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.E198Q|FOSB_ENST00000591858.1_Missense_Mutation_p.E159Q|FOSB_ENST00000586615.1_Missense_Mutation_p.E149Q|FOSB_ENST00000585836.1_Missense_Mutation_p.E123Q|FOSB_ENST00000417353.2_Missense_Mutation_p.E162Q|FOSB_ENST00000592811.1_Missense_Mutation_p.E149Q	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	198	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCAGAGCTGGAGTCGGAGAT	0.567																																																	0													30	36	34					19																	45975845		2203	4300	6503	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.592G>C	19.37:g.45975845G>C	ENSP00000245919:p.Glu198Gln		A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E198Q	ENST00000353609.3	37	c.592	CCDS12664.1	19	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758953	0.31137	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.77229	0.56;-0.0;-1.08	4.77	4.77	0.60923	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	N	0.01128	-1	0.58432	D	0.999992	D;D;D;P;D;D	0.64830	0.981;0.986;0.994;0.769;0.994;0.986	P;P;D;P;P;P	0.63597	0.88;0.887;0.916;0.888;0.88;0.887	T	0.64976	-0.6280	10	0.02654	T	1	-0.6094	15.3826	0.74673	0.0:0.0:1.0:0.0	.	55;159;123;55;162;198	E7EPR6;A8VJF0;A8VJF3;A8VJG5;E9PHJ3;P53539	.;.;.;.;.;FOSB_HUMAN	Q	198;162;198;55	ENSP00000245919:E198Q;ENSP00000407207:E162Q;ENSP00000414177:E55Q	ENSP00000245919:E198Q	E	+	1	0	FOSB	50667685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.959000	0.49153	2.497000	0.84241	0.549000	0.68633	GAG	FOSB	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.567	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	HGNC	protein_coding	OTTHUMT00000459561.1	G	NM_006732		45975845	1	no_errors	ENST00000353609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45975845	G	C	45975845	3	2	38	1	0	0	0	0	1	0	0	0	6004	1175	41	1	606	1	FOSB	19	45975845	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1475168	45975845	13153138	359	5563										
SNRNP70	6625	genome.wustl.edu	37	chr19	49610936	49610936	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgatgtgaacatccggcattCaggccgcgatgacacctccc	10	14	1	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:49610936C>G	ENST00000598441.1	+	9	856	c.632C>G	c.(631-633)tCa>tGa	p.S211*	SNRNP70_ENST00000221448.5_Nonsense_Mutation_p.S211*			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	211					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ATCCGGCATTCAGGCCGCGAT	0.657																																																	0													62	61	61					19																	49610936		2203	4300	6503	SO:0001587	stop_gained	6625				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.632C>G	19.37:g.49610936C>G	ENSP00000472998:p.Ser211*		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Nonsense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S211*	ENST00000598441.1	37	c.632	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	C	51	18.510427	0.99906	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	4.52	4.52	0.55395	.	0.064368	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.5377	16.3877	0.83522	0.0:1.0:0.0:0.0	.	.	.	.	X	211;115	.	ENSP00000221448:S211X	S	+	2	0	SNRNP70	54302748	0.998000	0.40836	0.980000	0.43619	0.989000	0.77384	4.035000	0.57297	2.238000	0.73509	0.462000	0.41574	TCA	SNRNP70	-	NULL		0.657	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	C	NM_003089		49610936	1	no_errors	ENST00000598441	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	49610936	C	G	49610936	4	3	38	1	0	0	0	0	0	1	0	0	14888	838	29	1	662	1	SNRNP70	19	49610936	Nonsense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	3635091	49610936	9518047	360	5564										
CEACAM18	729767	genome.wustl.edu	37	chr19	51981896	51981896	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctggaggaccccaggcagctCatggacctttccagacccag	11	15	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:51981896C>G	ENST00000396477.4	+	0	21				CEACAM18_ENST00000451626.1_Silent_p.L61L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCAGGCAGCTCATGGACCTTT	0.617																																																	0													31	35	34					19																	51981896		1963	4146	6109	SO:0001623	5_prime_UTR_variant	729767					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.-1C>G	19.37:g.51981896C>G			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L61	ENST00000396477.4	37	c.183		19																																																																																			CEACAM18	-	NULL		0.617	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	C			51981896	1	no_errors	ENST00000451626	ensembl	human	known	70_37	silent	SNP	0.022	G	G	51981896	C	G	51981896	1	3	38	0	1	0	0	0	0	0	0	0	3194	813	29	1		1	CEACAM18	19	51981896	5'UTR	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2370960	51981896	7147087	361	5565										
ZNF578	147660	genome.wustl.edu	37	chr19	53014505	53014505	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaaaccttacaagtgtaatGaatgtggaaagtccttcagt	9	6	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:53014505G>A	ENST00000421239.2	+	6	1115	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAAGTGTAATGAATGTGGAAA	0.393																																																	0													108	112	111					19																	53014505		2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.871G>A	19.37:g.53014505G>A	ENSP00000459216:p.Glu291Lys		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E291K	ENST00000421239.2	37	c.871	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	11.18	1.561959	0.27915	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.18	-0.482	0.12078	.	.	.	.	.	T	0.39384	0.1076	N	0.25380	0.74	0.09310	N	1	D	0.59767	0.986	D	0.70227	0.968	T	0.29640	-1.0005	7	.	.	.	.	7.6091	0.28120	0.0:0.3919:0.6081:0.0	.	291	G3V4F6	.	K	291	.	.	E	+	1	0	ZNF578	57706317	.	.	0.017000	0.16124	0.134000	0.20937	.	.	0.646000	0.30693	0.290000	0.19541	GAA	ZNF578	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	G	NM_152472		53014505	1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.002	A	A	53014505	G	A	53014505	3	1	38	1	0	0	0	0	1	0	0	0	18040	1291	45	1	881	1	ZNF578	19	53014505	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1032609	53014505	6114478	362	5566										
TMEM150B	284417	genome.wustl.edu	37	chr19	55824298	55824298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gggccacggctgaacacacaGggtgcagctctccagggcgg	16	13	1	1	rs201710040	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:55824298G>A	ENST00000326652.4	-	8	813	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	TMEM150B_ENST00000438693.1_Silent_p.L211L|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	211						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						TGAACACACAGGGTGCAGCTC	0.687													G|||	11	0.00219649	0	0.0014	5008	,	,		13386	0		0.004	False		,,,				2504	0.0061																0								G		7,4241		0,7,2117	22	28	26		631	2.4	0.9	19		26	46,8434		0,46,4194	no	coding-synonymous	TMEM150B	NM_001085488.1		0,53,6311	AA,AG,GG		0.5425,0.1648,0.4164		211/234	55824298	53,12675	2124	4240	6364	SO:0001819	synonymous_variant	284417			BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.631C>T	19.37:g.55824298G>A			B7ZW71	Silent	SNP	pfam_Frag1/DRAM/Sfk1	p.L211	ENST00000326652.4	37	c.631	CCDS42629.1	19																																																																																			TMEM150B	-	NULL		0.687	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150B	HGNC	protein_coding	OTTHUMT00000452685.1	G	NM_001085488		55824298	-1	no_errors	ENST00000326652	ensembl	human	known	70_37	silent	SNP	0.992	A	A	55824298	G	A	55824298	2	1	38	1	0	0	0	0	0	0	0	1	16098	991	35	4		4	TMEM150B	19	55824298	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2809793	55824298	3304685	363	5567										
NLRP11	204801	genome.wustl.edu	37	chr19	56312940	56312940	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agccgagcaacaactcacctCagatgacttatttggcatgt	8	11	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:56312940C>T	ENST00000589093.1	-	5	2262	c.2169G>A	c.(2167-2169)ctG>ctA	p.L723L	NLRP11_ENST00000592953.1_Silent_p.L624L|NLRP11_ENST00000589824.2_Silent_p.L669L|NLRP11_ENST00000360133.3_Silent_p.L669L|NLRP11_ENST00000443188.1_Silent_p.L723L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	723							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAACTCACCTCAGATGACTTA	0.493																																																	0													121	102	108					19																	56312940		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2169G>A	19.37:g.56312940C>T			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L723	ENST00000589093.1	37	c.2169	CCDS12935.1	19																																																																																			NLRP11	-	NULL		0.493	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56312940	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	silent	SNP	0.050	T	T	56312940	C	T	56312940	2	4	38	1	0	0	0	0	0	0	0	1	10497	813	29	1		1	NLRP11	19	56312940	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	488642	56312940	2816043	364	5568										
ZNF773	374928	genome.wustl.edu	37	chr19	58017753	58017753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcaaggagccaaggctgaggCagctgctgagcagagtgctt	16	9	0	3	rs201340833|rs61731281|rs386811330	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:58017753C>A	ENST00000282292.4	+	4	430	c.290C>A	c.(289-291)gCa>gAa	p.A97E	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.A96E|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAGGCTGAGGCAGCTGCTGAG	0.488													A|||	859	0.171526	0.2716	0.1484	5008	,	,		22832	0.1002		0.2018	False		,,,				2504	0.0951																0													84	87	86					19																	58017753		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.290C>A	19.37:g.58017753C>A	ENSP00000282292:p.Ala97Glu		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A97E	ENST00000282292.4	37	c.290	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.856327	0.00558	.	.	ENSG00000152439	ENST00000282292	T	0.05649	3.41	1.25	1.25	0.21368	.	.	.	.	.	T	0.02929	0.0087	N	0.05280	-0.08	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46789	-0.9166	9	0.28530	T	0.3	.	5.476	0.16695	0.7127:0.2873:0.0:0.0	rs61731281	96;97	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	E	97	ENSP00000282292:A97E	ENSP00000282292:A97E	A	+	2	0	ZNF773	62709565	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.333000	0.19768	0.000000	0.14550	-0.824000	0.03097	GCA	ZNF773	-	NULL		0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	C	NM_198542		58017753	1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.008	A	A	58017753	C	A	58017753	3	1	38	1	0	0	0	0	1	0	0	0	18176	710	25	4	304	4	ZNF773	19	58017753	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1704813	58017753	1111230	365	5569										
ZNF814	730051	genome.wustl.edu	37	chr19	58385818	58385818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cccagtgtgaactctctgatGattactgaagctaacatatt	7	9	1	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr19:58385818G>A	ENST00000435989.2	-	3	1174	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	314					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTCTCTGATGATTACTGAAG	0.368																																																	0													9	7	8					19																	58385818		674	1517	2191	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.940C>T	19.37:g.58385818G>A	ENSP00000410545:p.His314Tyr		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H314Y	ENST00000435989.2	37	c.940	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323985	0.24080	.	.	ENSG00000204514	ENST00000435989	D	0.86769	-2.17	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94016	0.8083	M	0.92412	3.305	0.09310	N	1	D	0.76494	0.999	D	0.66351	0.943	D	0.86063	0.1533	9	0.87932	D	0	.	12.2184	0.54420	0.0:0.0:1.0:0.0	.	314	B7Z6K7	ZN814_HUMAN	Y	314	ENSP00000410545:H314Y	ENSP00000410545:H314Y	H	-	1	0	ZNF814	63077630	0.005000	0.15991	0.002000	0.10522	0.208000	0.24298	1.328000	0.33758	1.441000	0.47550	0.134000	0.15878	CAT	ZNF814	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58385818	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.013	A	A	58385818	G	A	58385818	3	1	38	1	0	0	0	0	1	0	0	0	18206	1290	45	1	1631	1	ZNF814	19	58385818	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	368065	58385818	743165	366	5570										
BFSP1	631	genome.wustl.edu	37	chr20	17474751	17474751	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctctcctgatttcttcttgtCtgactttgtctttccaatca	4	12	6	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:17474751C>G	ENST00000377873.3	-	8	2005	c.1966G>C	c.(1966-1968)Gac>Cac	p.D656H	BFSP1_ENST00000536626.1_Missense_Mutation_p.D517H|BFSP1_ENST00000544874.1_Missense_Mutation_p.D517H|BFSP1_ENST00000377868.2_Missense_Mutation_p.D531H	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	656	Tail.		D -> E (in dbSNP:rs16999317).		cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTCTTCTTGTCTGACTTTGTC	0.428																																																	0													115	119	118					20																	17474751		2203	4300	6503	SO:0001583	missense	631			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1966G>C	20.37:g.17474751C>G	ENSP00000367104:p.Asp656His		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin	p.D656H	ENST00000377873.3	37	c.1966	CCDS13126.1	20	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226560	0.22542	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.66	2.56	0.30785	.	0.218162	0.46442	D	0.000299	T	0.22975	0.0555	N	0.08118	0	0.26197	N	0.979509	P;P	0.43094	0.799;0.697	B;B	0.39258	0.295;0.154	T	0.08371	-1.0725	10	0.52906	T	0.07	-20.1887	5.2188	0.15358	0.0:0.1379:0.0:0.8621	.	531;656	Q12934-2;Q12934	.;BFSP1_HUMAN	H	656;531;517;517	ENSP00000367104:D656H;ENSP00000367099:D531H;ENSP00000442522:D517H;ENSP00000439870:D517H	ENSP00000367099:D531H	D	-	1	0	BFSP1	17422751	0.990000	0.36364	0.917000	0.36280	0.561000	0.35649	1.999000	0.40806	0.767000	0.33267	-0.302000	0.09304	GAC	BFSP1	-	NULL		0.428	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	C	NM_001195		17474751	-1	no_errors	ENST00000377873	ensembl	human	known	70_37	missense	SNP	0.995	G	G	17474751	C	G	17474751	3	3	38	1	0	0	0	0	1	0	0	0	1416	913	32	1	35	1	BFSP1	20	17474751	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09		17474751	45550769	367	5571										
PYGB	5834	genome.wustl.edu	37	chr20	25228957	25228957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	caaggaccgcaatgtggccaCgccccgcgactacttcttcg	10	16	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:25228957C>T	ENST00000216962.4	+	1	253	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	48					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AATGTGGCCACGCCCCGCGAC	0.687																																																	0													56	42	46					20																	25228957		2202	4300	6502	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.143C>T	20.37:g.25228957C>T	ENSP00000216962:p.Thr48Met		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.T48M	ENST00000216962.4	37	c.143	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946524	0.92593	.	.	ENSG00000100994	ENST00000216962	D	0.89196	-2.48	4.16	3.21	0.36854	.	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	M	0.94101	3.495	0.80722	D	1	D	0.61697	0.99	P	0.45377	0.478	D	0.91955	0.5574	10	0.87932	D	0	-6.2383	10.1229	0.42632	0.0:0.8988:0.0:0.1012	.	48	P11216	PYGB_HUMAN	M	48	ENSP00000216962:T48M	ENSP00000216962:T48M	T	+	2	0	PYGB	25176957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.173000	0.77612	1.095000	0.41419	0.555000	0.69702	ACG	PYGB	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.687	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	C	NM_002862		25228957	1	no_errors	ENST00000216962	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25228957	C	T	25228957	3	4	38	1	0	0	0	0	1	0	0	0	12890	536	19	2	145	2	PYGB	20	25228957	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	7754206	25228957	37796563	368	5572										
ZNF337	26152	genome.wustl.edu	37	chr20	25656944	25656944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgacttattagtatagcctCgcccacactccttgcacaca	5	14	0	1	rs370233494		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:25656944C>T	ENST00000376436.1	-	4	1519	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R295Q|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R327Q			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTATAGCCTCGCCCACACTC	0.488																																																	0								C	GLN/ARG	0,4406		0,0,2203	101	95	97		980	1.3	0	20		97	1,8599		0,1,4299	no	missense	ZNF337	NM_015655.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	327/752	25656944	1,13005	2203	4300	6503	SO:0001583	missense	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.980G>A	20.37:g.25656944C>T	ENSP00000365619:p.Arg327Gln		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R327Q	ENST00000376436.1	37	c.980	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	21.2	4.120691	0.77323	0.0	1.16E-4	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18960	2.18;2.18;2.18	1.34	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	L	0.48218	1.51	0.20489	N	0.999897	D;D	0.55605	0.972;0.972	P;P	0.46629	0.522;0.522	T	0.15925	-1.0420	9	0.72032	D	0.01	.	3.7001	0.08379	0.0:0.757:0.0:0.243	.	295;327	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Q	327;327;327;295	ENSP00000365619:R327Q;ENSP00000252979:R327Q;ENSP00000442181:R295Q	ENSP00000252979:R327Q	R	-	2	0	ZNF337	25604944	0.997000	0.39634	0.034000	0.17996	0.976000	0.68499	1.963000	0.40452	1.049000	0.40321	0.306000	0.20318	CGA	ZNF337	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	C			25656944	-1	no_errors	ENST00000252979	ensembl	human	known	70_37	missense	SNP	0.724	T	T	25656944	C	T	25656944	3	4	38	1	0	0	0	0	1	0	0	0	17883	884	31	1	1279	1	ZNF337	20	25656944	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	427987	25656944	37368576	369	5573										
KIAA1755	85449	genome.wustl.edu	37	chr20	36850988	36850988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tccttggacttgctcaggcaCctggtagcctcctgccagcg	11	15	1	0	rs35524973	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:36850988C>T	ENST00000279024.4	-	10	2551	c.2280G>A	c.(2278-2280)agG>agA	p.R760R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	760										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCTCAGGCACCTGGTAGCCT	0.657											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	113	0.0225639	0.0507	0.013	5008	,	,		17572	0.002		0.0159	False		,,,				2504	0.0194																0								C		274,4132	150.7+/-184.7	12,250,1941	39	35	37		2280	3	1	20	dbSNP_126	37	143,8457	68.4+/-130.8	3,137,4160	no	coding-synonymous	KIAA1755	NM_001029864.1		15,387,6101	TT,TC,CC		1.6628,6.2188,3.2062		760/1201	36850988	417,12589	2203	4300	6503	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2280G>A	20.37:g.36850988C>T		866	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.R760	ENST00000279024.4	37	c.2280	CCDS33467.1	20																																																																																			KIAA1755	-	NULL		0.657	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36850988	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	silent	SNP	0.379	T	T	36850988	C	T	36850988	2	4	38	1	0	0	0	0	0	0	0	1	8277	506	18	4		4	KIAA1755	20	36850988	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	11194044	36850988	26174532	370	5574										
GTPBP5	26164	genome.wustl.edu	37	chr20	60768573	60768573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gggctggcctgaagcccagcCggctactgccacagcgggct	15	15	0	1	rs41284984	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:60768573C>T	ENST00000370823.3	+	2	115	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Missense_Mutation_p.R33W	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	33	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GAAGCCCAGCCGGCTACTGCC	0.627													C|||	66	0.0131789	8e-04	0.0231	5008	,	,		18183	0		0.0447	False		,,,				2504	0.0041																0								C	TRP/ARG	36,4370	40.8+/-73.8	0,36,2167	65	69	68		97	-5.4	0	20	dbSNP_127	68	369,8231	121.8+/-180.9	9,351,3940	yes	missense	GTPBP5	NM_015666.3	101	9,387,6107	TT,TC,CC		4.2907,0.8171,3.1139	benign	33/407	60768573	405,12601	2203	4300	6503	SO:0001583	missense	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.97C>T	20.37:g.60768573C>T	ENSP00000359859:p.Arg33Trp		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.R33W	ENST00000370823.3	37	c.97	CCDS13492.1	20	44	0.020146520146520148	0	0.0	11	0.03038674033149171	0	0.0	33	0.04353562005277045	C	12.21	1.869502	0.32977	0.008171	0.042907	ENSG00000101181	ENST00000436421;ENST00000370823;ENST00000448254	T;T;T	0.24350	1.86;2.68;2.18	4.17	-5.4	0.02656	.	3.317530	0.00654	N	0.000566	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14337	-1.0476	10	0.36615	T	0.2	-0.151	3.8869	0.09102	0.398:0.1715:0.0:0.4305	rs41284984	33;33;33	Q5JXJ0;E7EU10;Q9H4K7	.;.;GTPB5_HUMAN	W	33	ENSP00000392267:R33W;ENSP00000359859:R33W;ENSP00000414693:R33W	ENSP00000359859:R33W	R	+	1	2	GTPBP5	60201968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.749000	0.04813	-0.992000	0.03472	-0.203000	0.12734	CGG	GTPBP5	-	NULL		0.627	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	HGNC	protein_coding	OTTHUMT00000079989.1	C	NM_015666		60768573	1	no_errors	ENST00000370823	ensembl	human	known	70_37	missense	SNP	0.000	T	T	60768573	C	T	60768573	3	4	38	1	0	0	0	0	1	0	0	0	6903	643	23	2	99	2	GTPBP5	20	60768573	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	23917585	60768573	2256947	371	5575										
OGFR	11054	genome.wustl.edu	37	chr20	61442885	61442885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ctcatgctgggcttctacggGatccggctggaggaccgagg	16	11	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:61442885G>A	ENST00000290291.6	+	6	562	c.537G>A	c.(535-537)ggG>ggA	p.G179G	OGFR_ENST00000370461.1_Silent_p.G127G	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	179					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCTTCTACGGGATCCGGCTGG	0.637																																																	0													22	24	23					20																	61442885		2191	4293	6484	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.537G>A	20.37:g.61442885G>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.G179	ENST00000290291.6	37	c.537	CCDS13504.1	20	.	.	.	.	.	.	.	.	.	.	G	3.723	-0.057204	0.07317	.	.	ENSG00000060491	ENST00000370469	.	.	.	4.86	-1.75	0.08031	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9826	0.47504	0.1901:0.5705:0.2394:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGFR	60913330	0.049000	0.20398	0.993000	0.49108	0.238000	0.25445	-0.694000	0.05115	-0.142000	0.11354	-0.311000	0.09066	.	OGFR	-	pfam_OGF_rcpt		0.637	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1	G			61442885	1	no_errors	ENST00000290291	ensembl	human	known	70_37	silent	SNP	0.898	A	A	61442885	G	A	61442885	2	1	38	1	0	0	0	0	0	0	0	1	10867	1161	41	1		1	OGFR	20	61442885	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	674312	61442885	1582635	372	5576										
ZNF512B	57473	genome.wustl.edu	37	chr20	62598315	62598315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtttggacacttcaccctcgAgtgtgccttgaactcatcct	8	13	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr20:62598315A>G	ENST00000450537.1	-	4	367	c.307T>C	c.(307-309)Tcg>Ccg	p.S103P	ZNF512B_ENST00000369888.1_Missense_Mutation_p.S103P|ZNF512B_ENST00000217130.3_Missense_Mutation_p.S103P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTCACCCTCGAGTGTGCCTTG	0.607																																																	0													133	117	123					20																	62598315		2203	4300	6503	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.307T>C	20.37:g.62598315A>G	ENSP00000393795:p.Ser103Pro		Q08AK9|Q9ULM4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S103P	ENST00000450537.1	37	c.307	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623409	0.87460	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.35236	1.32;1.32;1.32	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.29908	0.895	0.44976	D	0.997997	D	0.76494	0.999	D	0.83275	0.996	T	0.49485	-0.8935	10	0.62326	D	0.03	-19.3008	13.4862	0.61366	1.0:0.0:0.0:0.0	.	103	Q96KM6	Z512B_HUMAN	P	103	ENSP00000358904:S103P;ENSP00000393795:S103P;ENSP00000217130:S103P	ENSP00000217130:S103P	S	-	1	0	ZNF512B	62068759	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	8.575000	0.90766	1.929000	0.55896	0.397000	0.26171	TCG	ZNF512B	-	NULL		0.607	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	A	NM_020713		62598315	-1	no_errors	ENST00000217130	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62598315	A	G	62598315	3	3	38	1	0	0	0	0	1	0	0	0	17987	304	11	5	2427	5	ZNF512B	20	62598315	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	1155430	62598315	427205	373	5577										
GRIK1	2897	genome.wustl.edu	37	chr21	30961186	30961186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	atgagttctttaaccatcccGttccactcccctttgtcatt	4	14	2	1	rs2229899	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr21:30961186G>A	ENST00000399907.1	-	11	1953	c.1542C>T	c.(1540-1542)aaC>aaT	p.N514N	GRIK1_ENST00000327783.4_Silent_p.N514N|GRIK1_ENST00000399909.1_Silent_p.N499N|GRIK1_ENST00000389125.3_Silent_p.N499N|GRIK1_ENST00000399913.1_Silent_p.N514N|GRIK1_ENST00000389124.2_Silent_p.N514N|GRIK1_ENST00000399914.1_Silent_p.N499N|GRIK1_ENST00000535441.1_Silent_p.N516N|GRIK1_ENST00000309434.7_Silent_p.N516N	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	514					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TAACCATCCCGTTCCACTCCC	0.368													G|||	83	0.0165735	0.0015	0.0288	5008	,	,		18246	0.001		0.0547	False		,,,				2504	0.0051																0								G	,	30,4376	37.6+/-69.7	0,30,2173	160	153	156		1542,1497	2.3	1	21	dbSNP_131	156	368,8232	122.4+/-181.4	11,346,3943	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	11,376,6116	AA,AG,GG		4.2791,0.6809,3.0601	,	514/919,499/906	30961186	398,12608	2203	4300	6503	SO:0001819	synonymous_variant	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1542C>T	21.37:g.30961186G>A			Q13001|Q86SU9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N516	ENST00000399907.1	37	c.1548	CCDS42913.1	21																																																																																			GRIK1	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	G			30961186	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30961186	G	A	30961186	2	1	38	1	0	0	0	0	0	0	0	1	6793	1136	40	2		2	GRIK1	21	30961186	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		30961186	17168709	374	5578										
TRPM2	7226	genome.wustl.edu	37	chr21	45811190	45811190	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cccacgatgacagctgcactCatctccaacaagcctgagtt	7	15	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr21:45811190C>T	ENST00000397928.1	+	11	1921	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	TRPM2_ENST00000397932.2_Silent_p.L492L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L492L|TRPM2_ENST00000300481.9_Silent_p.L492L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	492					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGCTGCACTCATCTCCAACA	0.527																																																	0													131	94	107					21																	45811190		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1476C>T	21.37:g.45811190C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.L492	ENST00000397928.1	37	c.1476	CCDS13710.1	21																																																																																			TRPM2	-	NULL		0.527	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45811190	1	no_errors	ENST00000300482	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45811190	C	T	45811190	2	4	38	1	0	0	0	0	0	0	0	1	16617	813	29	1		1	TRPM2	21	45811190	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	14850004	45811190	2318705	375	5579										
SUMO3	6612	genome.wustl.edu	37	chr21	46226929	46226929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gtctgctgctggaacacgtcGatggtgtcctcgtcctccat	11	13	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr21:46226929G>A	ENST00000397898.3	-	4	381	c.299C>T	c.(298-300)tCg>tTg	p.S100L	SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.I83I|AL773604.8_ENST00000417820.1_RNA|SUMO3_ENST00000411651.2_Silent_p.I121I					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GGAACACGTCGATGGTGTCCT	0.607																																																	0													79	67	71					21																	46226929		2203	4300	6503	SO:0001583	missense	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"SMT3 (suppressor of mif two 3, yeast) homolog 1", "SMT3 suppressor of mif two 3 homolog 3 (yeast)", "SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.299C>T	21.37:g.46226929G>A	ENSP00000380995:p.Ser100Leu			Missense_Mutation	SNP	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin	p.S100L	ENST00000397898.3	37	c.299		21	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680950	0.29872	.	.	ENSG00000184900	ENST00000397898	T	0.26223	1.75	5.52	-4.3	0.03710	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.09250	-1.0683	8	0.72032	D	0.01	.	15.628	0.76878	0.7167:0.0:0.2833:0.0	.	100	A8MUA9	.	L	100	ENSP00000380995:S100L	ENSP00000380995:S100L	S	-	2	0	SUMO3	45051357	0.057000	0.20700	0.678000	0.29963	0.924000	0.55760	-0.760000	0.04756	-0.751000	0.04734	-0.136000	0.14681	TCG	SUMO3	-	NULL		0.607	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	SUMO3	HGNC	protein_coding	OTTHUMT00000206561.1	G			46226929	-1	no_errors	ENST00000397898	ensembl	human	novel	70_37	missense	SNP	0.253	A	A	46226929	G	A	46226929	3	1	38	1	0	0	0	0	1	0	0	0	15419	1048	37	1	66	1	SUMO3	21	46226929	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	415739	46226929	1902966	376	5580										
COL6A2	1292	genome.wustl.edu	37	chr21	47537804	47537804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tcagggccccgacggttaccCgggggaagcagggagtccag	17	12	1	0	rs199929757	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr21:47537804C>G	ENST00000300527.4	+	12	1174	c.1070C>G	c.(1069-1071)cCg>cGg	p.P357R	COL6A2_ENST00000310645.5_Missense_Mutation_p.P357R|COL6A2_ENST00000357838.4_Missense_Mutation_p.P357R|COL6A2_ENST00000409416.1_Missense_Mutation_p.P357R|COL6A2_ENST00000397763.1_Missense_Mutation_p.P357R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	357	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GACGGTTACCCGGGGGAAGCA	0.682													C|||	3	0.000599042	0	0.0014	5008	,	,		16264	0		0.002	False		,,,				2504	0																0								C	ARG/PRO,ARG/PRO,ARG/PRO	2,4388	2.1+/-5.4	0,2,2193	50	48	48		1070,1070,1070	2.6	0.1	21		48	14,8574	9.1+/-34.3	0,14,4280	yes	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	103,103,103	0,16,6473	GG,GC,CC		0.163,0.0456,0.1233	benign,benign,benign	357/1020,357/919,357/829	47537804	16,12962	2195	4294	6489	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1070C>G	21.37:g.47537804C>G	ENSP00000300527:p.Pro357Arg		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P357R	ENST00000300527.4	37	c.1070	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	C	2.941	-0.218840	0.06101	4.56E-4	0.00163	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	4.46	2.59	0.31030	.	0.302904	0.36303	N	0.002665	D	0.94463	0.8218	L	0.46741	1.465	0.49915	D	0.999832	P;P;B	0.44877	0.81;0.845;0.111	P;P;B	0.47626	0.552;0.504;0.103	D	0.91557	0.5261	10	0.44086	T	0.13	-0.2304	9.7478	0.40457	0.0:0.8421:0.0:0.1579	.	357;357;357	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	R	357	ENSP00000300527:P357R;ENSP00000350497:P357R;ENSP00000312529:P357R;ENSP00000387115:P357R;ENSP00000380870:P357R	ENSP00000300527:P357R	P	+	2	0	COL6A2	46362232	0.902000	0.30710	0.087000	0.20705	0.104000	0.19210	2.090000	0.41682	0.411000	0.25702	0.305000	0.20034	CCG	COL6A2	-	pfam_Collagen		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	C			47537804	1	no_errors	ENST00000300527	ensembl	human	known	70_37	missense	SNP	0.966	G	G	47537804	C	G	47537804	3	3	38	1	0	0	0	0	1	0	0	0	3705	652	23	2	1112	2	COL6A2	21	47537804	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	1310875	47537804	592091	377	5581										
FOXRED2	80020	genome.wustl.edu	37	chr22	36892065	36892065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aggatgaagaaagttagactGccaggcatcttctgtgtgcc	12	8	2	3	rs377718449		TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:36892065G>T	ENST00000397224.4	-	7	1666	c.1573C>A	c.(1573-1575)Cag>Aag	p.Q525K	FOXRED2_ENST00000366463.3_Missense_Mutation_p.Q77K|FOXRED2_ENST00000397223.4_Missense_Mutation_p.Q525K|FOXRED2_ENST00000216187.6_Missense_Mutation_p.Q525K	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	525					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAGTTAGACTGCCAGGCATCT	0.527																																																	0													107	98	101					22																	36892065		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1573C>A	22.37:g.36892065G>T	ENSP00000380401:p.Gln525Lys		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Q525K	ENST00000397224.4	37	c.1573	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461872	0.04508	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.39997	2.63;2.63;1.05;2.63	5.52	4.48	0.54585	.	0.289846	0.39341	N	0.001386	T	0.25717	0.0626	N	0.20685	0.6	0.38127	D	0.93804	B	0.06786	0.001	B	0.04013	0.001	T	0.14952	-1.0454	10	0.02654	T	1	-17.0162	15.3129	0.74048	0.0:0.0:0.8548:0.1452	.	525	Q8IWF2	FXRD2_HUMAN	K	525;525;77;525	ENSP00000380401:Q525K;ENSP00000216187:Q525K;ENSP00000382543:Q77K;ENSP00000380400:Q525K	ENSP00000216187:Q525K	Q	-	1	0	FOXRED2	35222011	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	5.366000	0.66122	1.279000	0.44446	0.650000	0.86243	CAG	FOXRED2	-	NULL		0.527	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	G	NM_024955		36892065	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36892065	G	T	36892065	3	4	38	1	0	0	0	0	1	0	0	0	6052	1328	46	4	493	4	FOXRED2	22	36892065	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		36892065	14412501	378	5582										
TRIOBP	11078	genome.wustl.edu	37	chr22	38167740	38167740	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gacgagctccagatgatgcaGaaggtaggtccttccgctgg	14	10	0	3			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:38167740G>A	ENST00000406386.3	+	22	7188	c.6933G>A	c.(6931-6933)caG>caA	p.Q2311Q	TRIOBP_ENST00000403663.2_Silent_p.Q598Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2311					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGATGATGCAGAAGGTAGGTC	0.592																																																	0													53	57	56					22																	38167740		1997	4170	6167	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6933G>A	22.37:g.38167740G>A			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q2311	ENST00000406386.3	37	c.6933	CCDS43015.1	22																																																																																			TRIOBP	-	NULL		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38167740	1	no_errors	ENST00000406386	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38167740	G	A	38167740	2	1	38	1	0	0	0	0	0	0	0	1	16584	933	33	1		1	TRIOBP	22	38167740	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1275675	38167740	13136826	379	5583										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39477102	39477102	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acgttcctggccgaggacccGaaggttaccctgaccatctt	10	14	1	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:39477102G>A	ENST00000407997.3	+	3	693	c.336G>A	c.(334-336)ccG>ccA	p.P112P	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.P112P	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	112					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCGAGGACCCGAAGGTTACCC	0.567																																																	0													112	96	102					22																	39477102		2203	4300	6503	SO:0001819	synonymous_variant	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.336G>A	22.37:g.39477102G>A			B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.P112	ENST00000407997.3	37	c.336	CCDS13984.1	22																																																																																			APOBEC3G	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.567	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39477102	1	no_errors	ENST00000407997	ensembl	human	known	70_37	silent	SNP	0.000	A	A	39477102	G	A	39477102	2	1	38	1	0	0	0	0	0	0	0	1	794	1045	37	1		1	APOBEC3G	22	39477102	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1309362	39477102	11827464	380	5584										
TEF	7008	genome.wustl.edu	37	chr22	41783471	41783471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agaccatcccatatgatggcGaatctttccacctggagtac	8	12	1	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:41783471G>A	ENST00000266304.4	+	2	390	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	TEF_ENST00000406644.3_Missense_Mutation_p.E62K	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	92					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E92K(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ATATGATGGCGAATCTTTCCA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											132	118	123					22																	41783471		2203	4300	6503	SO:0001583	missense	7008				CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"basic leucine zipper proteins"	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.274G>A	22.37:g.41783471G>A	ENSP00000266304:p.Glu92Lys		B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.E92K	ENST00000266304.4	37	c.274	CCDS14014.1	22	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943185	0.92526	.	.	ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304	.	.	.	5.56	5.56	0.83823	.	0.047301	0.85682	D	0.000000	T	0.72366	0.3451	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.998	P;P;P	0.59171	0.727;0.825;0.853	T	0.74256	-0.3724	9	0.72032	D	0.01	-37.9878	19.5275	0.95212	0.0:0.0:1.0:0.0	.	97;92;62	B4DIH3;Q10587;Q10587-2	.;TEF_HUMAN;.	K	62;62;92	.	ENSP00000266304:E92K	E	+	1	0	TEF	40113417	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	8.003000	0.88520	2.616000	0.88540	0.563000	0.77884	GAA	TEF	-	NULL		0.612	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEF	HGNC	protein_coding	OTTHUMT00000320692.1	G	NM_003216		41783471	1	no_errors	ENST00000266304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41783471	G	A	41783471	3	1	38	1	0	0	0	0	1	0	0	0	15780	1059	37	1	351	1	TEF	22	41783471	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2306369	41783471	9521095	381	5585										
CENPM	79019	genome.wustl.edu	37	chr22	42343076	42343076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tgtccaggggcctcaacaccGacatcacagccgcaggacca	10	16	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:42343076G>A	ENST00000215980.5	-	1	92	c.5C>T	c.(4-6)tCg>tTg	p.S2L	CENPM_ENST00000407253.3_Missense_Mutation_p.S2L|CENPM_ENST00000404067.1_5'Flank|CENPM_ENST00000402338.1_5'Flank|CENPM_ENST00000402420.1_5'Flank	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	2					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CCTCAACACCGACATCACAGC	0.682																																																	0													36	34	34					22																	42343076		2202	4300	6502	SO:0001583	missense	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.5C>T	22.37:g.42343076G>A	ENSP00000215980:p.Ser2Leu		A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	pfam_Centromere_Cenp-M	p.S2L	ENST00000215980.5	37	c.5	CCDS14025.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230033	0.79688	.	.	ENSG00000100162	ENST00000215980;ENST00000407253	.	.	.	4.6	4.6	0.57074	.	0.257639	0.37483	N	0.002076	T	0.68833	0.3044	M	0.62723	1.935	0.80722	D	1	D;D;D	0.64830	0.994;0.982;0.982	P;P;P	0.58520	0.84;0.631;0.577	T	0.72465	-0.4285	9	0.72032	D	0.01	-18.5897	14.6475	0.68772	0.0:0.0:1.0:0.0	.	2;2;2	Q9NSP4-2;B1AHQ9;Q9NSP4	.;.;CENPM_HUMAN	L	2	.	ENSP00000215980:S2L	S	-	2	0	CENPM	40673022	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	5.162000	0.64942	2.555000	0.86185	0.655000	0.94253	TCG	CENPM	-	pfam_Centromere_Cenp-M		0.682	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPM	HGNC	protein_coding	OTTHUMT00000322058.1	G	NM_024053		42343076	-1	no_errors	ENST00000215980	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42343076	G	A	42343076	3	1	38	1	0	0	0	0	1	0	0	0	3242	1059	37	1	601	1	CENPM	22	42343076	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	559605	42343076	8961490	382	5586										
PHF21B	112885	genome.wustl.edu	37	chr22	45312345	45312345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gagggcctggggctggctgcCgggcgctggcacatggctga	20	11	0	1	rs8135982	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:45312345C>T	ENST00000313237.5	-	4	529	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	PHF21B_ENST00000396103.3_Missense_Mutation_p.G127S|PHF21B_ENST00000447824.3_Missense_Mutation_p.G115S|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.G115S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	127			G -> S (in dbSNP:rs8135982).				zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCTGGCTGCCGGGCGCTGGC	0.701													C|||	419	0.0836661	0.1528	0.0764	5008	,	,		12027	0.001		0.0726	False		,,,				2504	0.092																0								C	SER/GLY,SER/GLY,SER/GLY	552,3832		29,494,1669	21	26	24		379,343,379	-0.3	1	22	dbSNP_116	24	539,8039		23,493,3773	no	missense,missense,missense	PHF21B	NM_001135862.2,NM_001242450.1,NM_138415.4	56,56,56	52,987,5442	TT,TC,CC		6.2835,12.5912,8.4169	benign,benign,benign	127/490,115/478,127/532	45312345	1091,11871	2192	4289	6481	SO:0001583	missense	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.379G>A	22.37:g.45312345C>T	ENSP00000324403:p.Gly127Ser		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G127S	ENST00000313237.5	37	c.379	CCDS14061.1	22	161	0.07371794871794872	71	0.1443089430894309	26	0.0718232044198895	0	0.0	64	0.08443271767810026	C	12.62	1.993878	0.35131	0.125912	0.062835	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	4.91	-0.345	0.12624	.	0.462648	0.18750	N	0.132215	T	0.00073	0.0002	N	0.25647	0.755	0.50171	P	1.4499999999995072E-4	B;B;B;B	0.23591	0.007;0.007;0.004;0.088	B;B;B;B	0.14023	0.007;0.01;0.002;0.01	T	0.39099	-0.9630	9	0.05436	T	0.98	-12.3752	9.7905	0.40704	0.0:0.4785:0.0:0.5215	rs8135982	115;127;115;127	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	S	127;127;115;115;115	ENSP00000324403:G127S;ENSP00000379410:G127S;ENSP00000385105:G115S;ENSP00000388619:G115S;ENSP00000401294:G115S	ENSP00000324403:G127S	G	-	1	0	PHF21B	43691009	0.204000	0.23447	0.996000	0.52242	0.983000	0.72400	-0.075000	0.11431	-0.154000	0.11118	0.655000	0.94253	GGC	PHF21B	-	NULL		0.701	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	C	NM_138415		45312345	-1	no_errors	ENST00000313237	ensembl	human	known	70_37	missense	SNP	0.961	T	T	45312345	C	T	45312345	3	4	38	1	0	0	0	0	1	0	0	0	11858	652	23	2	1256	2	PHF21B	22	45312345	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	2969269	45312345	5992221	383	5587										
TTLL8	164714	genome.wustl.edu	37	chr22	50472866	50472866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ccgtctgagggttcacagacGtgattctattcagcagagcc	11	11	4	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:50472866G>A	ENST00000266182.6	-	9	946	c.947C>T	c.(946-948)aCg>aTg	p.T316M	TTLL8_ENST00000440475.1_Missense_Mutation_p.T300M			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	336	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTTCACAGACGTGATTCTATT	0.527																																																	0													44	48	47					22																	50472866		1976	4175	6151	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.947C>T	22.37:g.50472866G>A	ENSP00000266182:p.Thr316Met		B5MDV0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.T316M	ENST00000266182.6	37	c.947		22	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153853	0.06585	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.42900	3.45;0.96;0.96	4.72	-3.56	0.04626	.	1.506590	0.03808	N	0.265433	T	0.16085	0.0387	N	0.11064	0.09	0.09310	N	1	P	0.35944	0.529	B	0.22601	0.04	T	0.08146	-1.0736	10	0.42905	T	0.14	.	0.2398	0.00191	0.3124:0.2316:0.2335:0.2225	.	316	B5MDV0	.	M	316;300;336	ENSP00000266182:T316M;ENSP00000387509:T300M;ENSP00000392252:T336M	ENSP00000266182:T316M	T	-	2	0	TTLL8	48814993	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.129000	0.10515	-0.457000	0.07033	0.561000	0.74099	ACG	TTLL8	-	pfam_Tub_tyr_ligase		0.527	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	HGNC	protein_coding		G	NM_001080447		50472866	-1	no_errors	ENST00000266182	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50472866	G	A	50472866	3	1	38	1	0	0	0	0	1	0	0	0	16764	1145	40	2	1580	2	TTLL8	22	50472866	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	5160521	50472866	831700	384	5588										
FAM116B	414918	genome.wustl.edu	37	chr22	50751893	50751893	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	accttccagggcgtgatgctCttctgcaggggcatgaggct	14	11	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:50751893C>G	ENST00000413817.3	-	16	1400	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	443					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCGTGATGCTCTTCTGCAGGG	0.687																																																	0													21	26	25					22																	50751893		1891	4068	5959	SO:0001583	missense	414918			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1329G>C	22.37:g.50751893C>G	ENSP00000391524:p.Lys443Asn		A6X8I5	Missense_Mutation	SNP	pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9	p.K443N	ENST00000413817.3	37	c.1329	CCDS46732.1	22	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156675	0.38119	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.82	2.71	0.32032	.	0.249402	0.45361	D	0.000368	T	0.38401	0.1039	L	0.50333	1.59	0.38243	D	0.941373	P;P	0.35433	0.501;0.501	B;B	0.27608	0.081;0.081	T	0.40365	-0.9567	9	0.54805	T	0.06	-23.4131	5.8748	0.18822	0.0:0.6631:0.1589:0.1781	.	443;443	Q8NEG7;C9JIV6	F116B_HUMAN;.	N	443	.	ENSP00000391524:K443N	K	-	3	2	FAM116B	49094465	0.129000	0.22400	0.983000	0.44433	0.927000	0.56198	-0.233000	0.09041	1.010000	0.39314	0.313000	0.20887	AAG	DENND6B	-	pfam_Afi1_N		0.687	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3	C	NM_001001794		50751893	-1	no_errors	ENST00000413817	ensembl	human	known	70_37	missense	SNP	0.944	G	G	50751893	C	G	50751893	3	3	38	1	0	0	0	0	1	0	0	0	5423	912	32	1	448	1	FAM116B	22	50751893	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	279027	50751893	552673	385	5589										
FAM116B	414918	genome.wustl.edu	37	chr22	50752655	50752655	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cctggcttggtgtccagggtCttcaaccttgaaggcttttt	11	10	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chr22:50752655C>T	ENST00000413817.3	-	13	1190	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	373					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGTCCAGGGTCTTCAACCTTG	0.642																																																	0													40	46	44					22																	50752655		1952	4129	6081	SO:0001819	synonymous_variant	414918			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1119G>A	22.37:g.50752655C>T			A6X8I5	Silent	SNP	pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9	p.K373	ENST00000413817.3	37	c.1119	CCDS46732.1	22																																																																																			DENND6B	-	pfam_Afi1_N		0.642	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3	C	NM_001001794		50752655	-1	no_errors	ENST00000413817	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50752655	C	T	50752655	2	4	38	1	0	0	0	0	0	0	0	1	5423	912	32	1		1	FAM116B	22	50752655	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	762	50752655	551911	386	5590										
SLC25A6	293	genome.wustl.edu	37	chrX	1508324	1508324	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctgccaggcgggttctggcGaaatccagcgggtacacgaa	15	11	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:1508324G>A	ENST00000381401.5	-	2	1122	c.408C>T	c.(406-408)ttC>ttT	p.F136F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	136					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGGTTCTGGCGAAATCCAGCG	0.652													g|||	1617	0.322883	0.4856	0.3256	5008	,	,		17263	0.1062		0.2724	False		,,,				2504	0.3763																0								G		1974,2432		461,1052,690	110	118	115		408	-1.4	0.4	X	dbSNP_134	115	2176,6416		278,1620,2398	no	coding-synonymous	SLC25A6	NM_001636.3		739,2672,3088	AA,AG,GG		25.3259,44.8025,31.928		136/299	1508324	4150,8848	2203	4296	6499	SO:0001819	synonymous_variant	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.408C>T	X.37:g.1508324G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.F136	ENST00000381401.5	37	c.408	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.652	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	G	NM_001636		1508324	-1	no_errors	ENST00000381401	ensembl	human	known	70_37	silent	SNP	0.997	A	A	1508324	G	A	1508324	2	1	38	1	0	0	0	0	0	0	0	1	14543	1049	37	1		1	SLC25A6	23	1508324	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09		1508324	153762236	387	5591										
TLR7	51284	genome.wustl.edu	37	chrX	12903659	12903659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	aatgtggacactgaagagacAaattcttatcctttttaaca	6	7	1	2	rs179008	byFrequency	TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:12903659A>T	ENST00000380659.3	+	3	171	c.32A>T	c.(31-33)cAa>cTa	p.Q11L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	11			Q -> L (in dbSNP:rs179008). {ECO:0000269|PubMed:19924287}.		cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTGAAGAGACAAATTCTTATC	0.358													A|||	446	0.118146	0.0908	0.1599	3775	,	,		14565	0		0.1759	False		,,,				2504	0.0389																0			GRCh37	CM084786	TLR7	M	rs179008	A	LEU/GLN	521,3314		25,397,74,1210,497	129	129	129		32	-5.4	0	X	dbSNP_79	129	1429,5299		98,792,441,1538,1431	yes	missense	TLR7	NM_016562.3	113	123,1189,515,2748,1928	TT,TA,T,AA,A		21.2396,13.5854,18.4607	benign	11/1050	12903659	1950,8613	2203	4300	6503	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.32A>T	X.37:g.12903659A>T	ENSP00000370034:p.Gln11Leu		D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q11L	ENST00000380659.3	37	c.32	CCDS14151.1	X	253	0.1525015069318867	34	0.0735930735930736	38	0.1165644171779141	0	0.0	110	0.16224188790560473	A	8.200	0.797989	0.16327	0.135854	0.212396	ENSG00000196664	ENST00000380659	T	0.46819	0.86	5.72	-5.42	0.02640	.	0.888102	0.09632	N	0.776072	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.37606	T	0.19	.	1.4567	0.02387	0.262:0.3564:0.1455:0.2361	rs179008;rs629938;rs17256060;rs179008	11	Q9NYK1	TLR7_HUMAN	L	11	ENSP00000370034:Q11L	ENSP00000370034:Q11L	Q	+	2	0	TLR7	12813580	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	0.053000	0.14184	-0.637000	0.05516	0.421000	0.28195	CAA	TLR7	-	NULL		0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	A	NM_016562		12903659	1	no_errors	ENST00000380659	ensembl	human	known	70_37	missense	SNP	0.000	T	T	12903659	A	T	12903659	3	4	38	1	0	0	0	0	1	0	0	0	15986	130	5	5	38	5	TLR7	23	12903659	Missense_Mutation	SNP	A	TCGA-C5-A3HE-01A-21D-A22X-09	11395335	12903659	142366901	388	5592										
MAGEB6	158809	genome.wustl.edu	37	chrX	26212614	26212614	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gagaagaaagagtccattttGaaggcagacatgctgaagtg	13	5	0	6			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:26212614G>A	ENST00000379034.1	+	2	800	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	217	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGTCCATTTTGAAGGCAGACA	0.478																																																	0													85	72	76					X																	26212614		2202	4300	6502	SO:0001819	synonymous_variant	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.651G>A	X.37:g.26212614G>A			Q6GS19|Q9H219	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L217	ENST00000379034.1	37	c.651	CCDS14217.1	X																																																																																			MAGEB6	-	pfam_MAGE,pfscan_MAGE		0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	G	NM_173523		26212614	1	no_errors	ENST00000379034	ensembl	human	known	70_37	silent	SNP	0.000	A	A	26212614	G	A	26212614	2	1	38	1	0	0	0	0	0	0	0	1	9202	1281	45	1		1	MAGEB6	23	26212614	Silent	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	13308955	26212614	129057946	389	5593										
DCAF8L1	139425	genome.wustl.edu	37	chrX	27998107	27998107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gctcacgacaaactcactccGggggccatagaaattaacac	8	13	2	1			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:27998107G>A	ENST00000441525.1	-	1	1459	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AACTCACTCCGGGGGCCATAG	0.468																																																	0													40	36	37					X																	27998107		2202	4300	6502	SO:0001583	missense	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1345C>T	X.37:g.27998107G>A	ENSP00000405222:p.Arg449Trp		B3KXX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R449W	ENST00000441525.1	37	c.1345	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455402	0.26161	.	.	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	-1.68	0.08212	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.862399	0.10300	N	0.691227	D	0.86447	0.5935	M	0.85197	2.74	0.29810	N	0.831725	D	0.76494	0.999	D	0.63793	0.918	T	0.77547	-0.2547	9	0.72032	D	0.01	-1.237	.	.	.	.	449	A6NGE4	DC8L1_HUMAN	W	449	ENSP00000405222:R449W	ENSP00000405222:R449W	R	-	1	2	DCAF8L1	27908028	0.339000	0.24784	0.228000	0.23943	0.072000	0.16883	1.053000	0.30442	-1.303000	0.02332	-0.998000	0.02512	CGG	DCAF8L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.468	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	G	XM_066690		27998107	-1	no_errors	ENST00000441525	ensembl	human	known	70_37	missense	SNP	0.933	A	A	27998107	G	A	27998107	3	1	38	1	0	0	0	0	1	0	0	0	4282	1115	39	2	461	2	DCAF8L1	23	27998107	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	1785493	27998107	127272453	390	5594										
DMD	1756	genome.wustl.edu	37	chrX	32486617	32486617	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agtaaaatcttgaattacctGaatttttcggagtttattca	6	5	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:32486617G>A	ENST00000357033.4	-	23	3366	c.3160C>T	c.(3160-3162)Cag>Tag	p.Q1054*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1050*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1054					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTACCTGAATTTTTCGG	0.368																																																	0													46	39	41					X																	32486617		2201	4297	6498	SO:0001587	stop_gained	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3160C>T	X.37:g.32486617G>A	ENSP00000354923:p.Gln1054*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	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,pfam_CAMSAP_CH,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.Q1054*	ENST00000357033.4	37	c.3160	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.197135	0.99098	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.12	4.23	0.50019	.	0.000000	0.32503	U	0.006013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	14.8448	0.70251	0.0:0.1408:0.8591:0.0	.	.	.	.	X	1046;1050;1054;1054;931	.	ENSP00000354923:Q1054X	Q	-	1	0	DMD	32396538	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	5.736000	0.68597	1.004000	0.39156	0.538000	0.68166	CAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32486617	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	32486617	G	A	32486617	4	1	38	1	0	0	0	0	0	1	0	0	4590	1299	45	1	8368	1	DMD	23	32486617	Nonsense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	4488510	32486617	122783943	391	5595										
USP9X	8239	genome.wustl.edu	37	chrX	41029361	41029361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	tacaattggttcagtacgacGatgtattctcaatcgtatta	7	7	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:41029361G>A	ENST00000324545.8	+	19	3383	c.2750G>A	c.(2749-2751)cGa>cAa	p.R917Q	USP9X_ENST00000378308.2_Missense_Mutation_p.R917Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	917					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCAGTACGACGATGTATTCTC	0.413																																					Ovarian(172;1807 2695 35459 49286)												0													141	127	132					X																	41029361		2182	4292	6474	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2750G>A	X.37:g.41029361G>A	ENSP00000316357:p.Arg917Gln		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.R917Q	ENST00000324545.8	37	c.2750	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.267822	0.95399	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03301	3.98;3.98	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.15925	-1.0420	10	0.13470	T	0.59	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	917;917	Q93008-1;Q93008	.;USP9X_HUMAN	Q	917	ENSP00000367558:R917Q;ENSP00000316357:R917Q	ENSP00000316357:R917Q	R	+	2	0	USP9X	40914305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.448000	0.82819	0.594000	0.82650	CGA	USP9X	-	NULL		0.413	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41029361	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41029361	G	A	41029361	3	1	38	1	0	0	0	0	1	0	0	0	17121	1058	37	1	2820	1	USP9X	23	41029361	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	8542744	41029361	114241199	392	5596										
OTUD5	55593	genome.wustl.edu	37	chrX	48792259	48792259	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gcaatgctttcgcacaacctCatgcatgtcctggtctccat	7	14	2	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:48792259C>T	ENST00000156084.4	-	3	781	c.721G>A	c.(721-723)Gag>Aag	p.E241K	OTUD5_ENST00000376488.3_Missense_Mutation_p.E241K|OTUD5_ENST00000428668.2_Missense_Mutation_p.E24K|OTUD5_ENST00000396743.3_Missense_Mutation_p.E241K|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	241	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CGCACAACCTCATGCATGTCC	0.522																																																	0													84	64	71					X																	48792259		2203	4300	6503	SO:0001583	missense	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.721G>A	X.37:g.48792259C>T	ENSP00000156084:p.Glu241Lys		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E241K	ENST00000156084.4	37	c.721	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620329	0.66787	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.71	5.71	0.89125	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.04746	-0.17	0.80722	D	1	B;B;B	0.32862	0.004;0.387;0.193	B;B;B	0.28465	0.015;0.09;0.035	T	0.13522	-1.0506	10	0.11182	T	0.66	-23.5141	17.811	0.88616	0.0:1.0:0.0:0.0	.	24;241;241	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	K	241;217;114;241;241;24	ENSP00000379969:E241K;ENSP00000390767:E114K;ENSP00000156084:E241K;ENSP00000365671:E241K;ENSP00000401629:E24K	ENSP00000156084:E241K	E	-	1	0	OTUD5	48677203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.725000	0.74752	2.566000	0.86566	0.529000	0.55759	GAG	OTUD5	-	pfam_OTU,pfscan_OTU		0.522	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	C	NM_017602		48792259	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48792259	C	T	48792259	3	4	38	1	0	0	0	0	1	0	0	0	11339	835	29	1	1022	1	OTUD5	23	48792259	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	7762898	48792259	106478301	393	5597										
FAM123B	139285	genome.wustl.edu	37	chrX	63409824	63409824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggcaagagaggcaccttgctCagccctctcctttgacaggt	11	13	2	2			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:63409824C>T	ENST00000330258.3	-	2	3615	c.3343G>A	c.(3343-3345)Gag>Aag	p.E1115K	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1115					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCACCTTGCTCAGCCCTCTCC	0.582																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											13	13	13					X																	63409824		1945	4096	6041	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3343G>A	X.37:g.63409824C>T	ENSP00000329117:p.Glu1115Lys		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E1115K	ENST00000330258.3	37	c.3343	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	C	4.017	0.000501	0.07819	.	.	ENSG00000184675	ENST00000330258	T	0.48522	0.81	4.95	0.246	0.15516	.	.	.	.	.	T	0.29556	0.0737	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	8	.	.	.	-0.1105	8.5465	0.33424	0.0:0.5513:0.0:0.4487	.	1115	Q5JTC6	F123B_HUMAN	K	1115	ENSP00000329117:E1115K	.	E	-	1	0	FAM123B	63326549	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.730000	0.04915	-0.004000	0.14419	-1.131000	0.01979	GAG	FAM123B	-	NULL		0.582	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	C	NM_152424		63409824	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.000	T	T	63409824	C	T	63409824	3	4	38	1	0	0	0	0	1	0	0	0	5438	835	29	1	68	1	FAM123B	23	63409824	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	14617565	63409824	91860736	394	5598										
OPHN1	4983	genome.wustl.edu	37	chrX	67432048	67432048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	gaacagactatgaagaaaggCcaagacctagggaaaacatg	11	7	0	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:67432048C>T	ENST00000355520.5	-	8	1245	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	OPHN1_ENST00000540071.1_Missense_Mutation_p.A202T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	202					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGAAGAAAGGCCAAGACCTAG	0.383																																																	0													82	65	70					X																	67432048		2203	4300	6503	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.604G>A	X.37:g.67432048C>T	ENSP00000347710:p.Ala202Thr		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.A202T	ENST00000355520.5	37	c.604	CCDS14388.1	X	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343983	0.61073	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.04809	3.55;3.55	5.34	5.34	0.76211	.	0.054439	0.64402	D	0.000001	T	0.05502	0.0145	L	0.41573	1.285	0.58432	D	0.999991	B;B;B	0.32653	0.154;0.378;0.379	B;B;B	0.33750	0.028;0.169;0.048	T	0.33954	-0.9848	10	0.51188	T	0.08	.	9.3379	0.38062	0.0:0.9001:0.0:0.0999	.	202;202;202	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	T	202	ENSP00000347710:A202T;ENSP00000438617:A202T	ENSP00000347710:A202T	A	-	1	0	OPHN1	67348773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.087000	0.64480	2.376000	0.81061	0.600000	0.82982	GCC	OPHN1	-	NULL		0.383	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	C	NM_002547		67432048	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67432048	C	T	67432048	3	4	38	1	0	0	0	0	1	0	0	0	10899	739	26	4	1872	4	OPHN1	23	67432048	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	4022224	67432048	87838512	395	5599										
NAP1L2	4674	genome.wustl.edu	37	chrX	72432946	72432946	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	agggccatgtatactctgctCtaacgatcaatgtcttctac	7	11	5	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:72432946C>G	ENST00000373517.3	-	1	1738	c.1383G>C	c.(1381-1383)taG>taC	p.*461Y	NAP1L2_ENST00000536638.1_Nonstop_Mutation_p.*319Y	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	0					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATACTCTGCTCTAACGATCAA	0.338																																																	0													48	39	42					X																	72432946		2203	4299	6502	SO:0001578	stop_lost	4674			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1383G>C	X.37:g.72432946C>G			B2RE61|B4E161|Q8TAN6	Nonstop_Mutation	SNP	pfam_NAP_family	p.*461Y	ENST00000373517.3	37	c.1383	CCDS14423.1	X	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.794979	0.00617	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	.	.	.	3.2	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0662	0.19864	0.0:0.1385:0.0:0.8615	.	.	.	.	Y	461;319	.	.	X	-	3	2	NAP1L2	72349671	1.000000	0.71417	0.691000	0.30163	0.073000	0.16967	1.492000	0.35594	0.440000	0.26502	-0.505000	0.04504	TAG	NAP1L2	-	NULL		0.338	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1	C	NM_021963		72432946	-1	no_errors	ENST00000373517	ensembl	human	known	70_37	nonstop	SNP	0.841	G	G	72432946	C	G	72432946	4	3	38	1	0	0	0	0	0	0	0	0	10180	924	32	1	3	1	NAP1L2	23	72432946	Nonstop_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	5000898	72432946	82837614	396	5600										
CXorf26	51260	genome.wustl.edu	37	chrX	75395419	75395419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	ggatagatgtgttggacccaGaagaactcaagtcagaatca	11	7	3	4			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:75395419G>A	ENST00000373358.3	+	4	471	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	PBDC1_ENST00000373357.3_Missense_Mutation_p.E90K	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	90																	GTTGGACCCAGAAGAACTCAA	0.353																																																	0													63	56	59					X																	75395419		2203	4300	6503	SO:0001583	missense	51260			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.268G>A	X.37:g.75395419G>A	ENSP00000362456:p.Glu90Lys			Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.E90K	ENST00000373358.3	37	c.268	CCDS14432.1	X	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668488	0.88348	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	4.87	4.87	0.63330	Yst0336-like domain (1);	0.046414	0.85682	D	0.000000	T	0.78444	0.4284	M	0.82716	2.605	0.54753	D	0.999981	D	0.63880	0.993	P	0.62649	0.905	T	0.82065	-0.0642	9	0.72032	D	0.01	-28.1309	14.5104	0.67784	0.0:0.0:1.0:0.0	.	90	Q9BVG4	CX026_HUMAN	K	90	.	ENSP00000362455:E90K	E	+	1	0	CXorf26	75311821	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.114000	0.77103	2.395000	0.81488	0.544000	0.68410	GAA	CXorf26	-	pfam_Put_polysacc_synth		0.353	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf26	HGNC	protein_coding	OTTHUMT00000057294.1	G	NM_016500		75395419	1	no_errors	ENST00000373358	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75395419	G	A	75395419	3	1	38	1	0	0	0	0	1	0	0	0	4109	943	33	1	282	1	CXorf26	23	75395419	Missense_Mutation	SNP	G	TCGA-C5-A3HE-01A-21D-A22X-09	2962473	75395419	79875141	397	5601										
RGAG1	57529	genome.wustl.edu	37	chrX	109696520	109696520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	cacactaccagtgcgagcccCagcctctggaggggtgtcct	12	15	1	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:109696520C>A	ENST00000465301.2	+	3	2921	c.2675C>A	c.(2674-2676)cCa>cAa	p.P892Q	RGAG1_ENST00000540313.1_Missense_Mutation_p.P892Q	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	892										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTGCGAGCCCCAGCCTCTGGA	0.552																																																	0													107	108	108					X																	109696520		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2675C>A	X.37:g.109696520C>A	ENSP00000419786:p.Pro892Gln		Q9P2M8	Missense_Mutation	SNP	NULL	p.P892Q	ENST00000465301.2	37	c.2675	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429888	0.43122	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.42513	0.97;0.97	3.57	3.57	0.40892	.	0.808577	0.10163	N	0.708138	T	0.41096	0.1144	L	0.54323	1.7	0.09310	N	0.999999	P	0.47677	0.899	P	0.45681	0.49	T	0.28202	-1.0051	9	.	.	.	2.0311	6.0827	0.19950	0.0:0.8605:0.0:0.1395	.	892	Q8NET4	RGAG1_HUMAN	Q	892	ENSP00000419786:P892Q;ENSP00000441452:P892Q	.	P	+	2	0	RGAG1	109583176	0.073000	0.21202	0.017000	0.16124	0.012000	0.07955	3.898000	0.56281	2.040000	0.60383	0.600000	0.82982	CCA	RGAG1	-	NULL		0.552	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696520	1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.053	A	A	109696520	C	A	109696520	3	1	38	1	0	0	0	0	1	0	0	0	13304	594	21	4	2677	4	RGAG1	23	109696520	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	34301101	109696520	45574040	398	5602										
HCFC1	3054	genome.wustl.edu	37	chrX	153224134	153224134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	acactcagcaccgtgggtgcCgaggaaggggggatcttctg	16	10	3	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:153224134C>T	ENST00000310441.7	-	10	2655	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	HCFC1_ENST00000354233.3_Silent_p.S494S|HCFC1_ENST00000369984.4_Silent_p.S563S|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	563					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGGGTGCCGAGGAAGGGG	0.657																																																	0													41	47	45					X																	153224134		2049	4159	6208	SO:0001819	synonymous_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1689G>A	X.37:g.153224134C>T			Q6P4G5	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.S563	ENST00000310441.7	37	c.1689	CCDS44020.1	X																																																																																			HCFC1	-	NULL		0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	C	NM_005334		153224134	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	silent	SNP	0.933	T	T	153224134	C	T	153224134	2	4	38	1	0	0	0	0	0	0	0	1	7011	639	23	2		2	HCFC1	23	153224134	Silent	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	43527614	153224134	2046426	399	5603										
CTAG2	30848	genome.wustl.edu	37	chrX	153880858	153880858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4	158	4.04417433216999e-49	3.59130724027054	5.82712022367195	2.89320529608613	0.000123578315984958	0.00117236666247763	114	catcccgggacaggatcctgCggaccagctccgcttccatg	11	16	0	0			TCGA-C5-A3HE-01A-21D-A22X-09	TCGA-C5-A3HE-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5ef4c25-9b8c-4b52-92ac-6f0bfff93282	a6eaeac8-9943-4ea1-b40b-ccf53e8544b0	g.chrX:153880858C>T	ENST00000247306.4	-	2	380	c.317G>A	c.(316-318)cGc>cAc	p.R106H	CTAG2_ENST00000369585.3_Missense_Mutation_p.R106H	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	106						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGATCCTGCGGACCAGCTC	0.617																																																	0													42	41	41					X																	153880858		2203	4298	6501	SO:0001583	missense	30848			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.317G>A	X.37:g.153880858C>T	ENSP00000247306:p.Arg106His		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	pfam_EKC/KEOPS_Pcc1	p.R106H	ENST00000247306.4	37	c.317	CCDS14759.1	X	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730224	0.15507	.	.	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.30448	1.53;1.53	2.77	-3.07	0.05363	.	.	.	.	.	T	0.16428	0.0395	L	0.41710	1.295	0.09310	N	1	P;P	0.48016	0.904;0.789	B;B	0.38296	0.27;0.177	T	0.08391	-1.0724	9	0.39692	T	0.17	-0.5484	0.6842	0.00880	0.3022:0.334:0.1474:0.2164	.	106;106	O75638;O75638-2	CTAG2_HUMAN;.	H	106;106;48	ENSP00000247306:R106H;ENSP00000358598:R106H	ENSP00000247306:R106H	R	-	2	0	CTAG2	153534052	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.594000	0.05733	-1.034000	0.03295	-0.508000	0.04489	CGC	CTAG2	-	pfam_EKC/KEOPS_Pcc1		0.617	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	HGNC	protein_coding	OTTHUMT00000061176.1	C	NM_020994		153880858	-1	no_errors	ENST00000369585	ensembl	human	known	70_37	missense	SNP	0.000	T	T	153880858	C	T	153880858	3	4	38	1	0	0	0	0	1	0	0	0	3996	768	27	2	458	2	CTAG2	23	153880858	Missense_Mutation	SNP	C	TCGA-C5-A3HE-01A-21D-A22X-09	656724	153880858	1389702	400	5604										
UROD	7389	genome.wustl.edu	37	chr1	45480138	45480138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	agctgtttgagtcccatgcaGggcatcttggcccacagctc	11	13	1	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:45480138G>A	ENST00000246337.4	+	7	783	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	222					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GTCCCATGCAGGGCATCTTGG	0.512									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	91	92					1																	45480138		2203	4300	6503	SO:0001583	missense	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.664G>A	1.37:g.45480138G>A	ENSP00000246337:p.Gly222Arg	931	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE	p.G222R	ENST00000246337.4	37	c.664	CCDS518.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.405428|4.405428	0.83230|0.83230	.|.	.|.	ENSG00000126088|ENSG00000126088	ENST00000246337;ENST00000372139|ENST00000428106	D|.	0.95272|.	-3.66|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Uroporphyrinogen decarboxylase (URO-D) (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91157|0.91157	0.7215|0.7215	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.94549|0.94549	0.7752|0.7752	10|5	0.87932|.	D|.	0|.	-2.4132|-2.4132	18.8267|18.8267	0.92122|0.92122	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	222|.	P06132|.	DCUP_HUMAN|.	R|K	222;161|161	ENSP00000246337:G222R|.	ENSP00000246337:G222R|.	G|R	+|+	1|2	0|0	UROD|UROD	45252725|45252725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.443000|8.443000	0.90320|0.90320	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GGG|AGG	UROD	-	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE		0.512	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	HGNC	protein_coding	OTTHUMT00000024803.1	G	NM_000374		45480138	1	no_errors	ENST00000246337	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45480138	G	A	45480138	3	1	39	1	0	0	0	0	1	0	0	0	17060	1000	35	4	690	4	UROD	1	45480138	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		45480138	203770483	1	5605										
MSH4	4438	genome.wustl.edu	37	chr1	76282203	76282203	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	catcatcagcccaaaaccttGaattgttaattaataatcaa	3	9	3	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:76282203G>C	ENST00000263187.3	+	6	1065	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	321					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCAAAACCTTGAATTGTTAAT	0.274								Mismatch excision repair (MMR)																																									0													57	59	58					1																	76282203		2203	4300	6503	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.961G>C	1.37:g.76282203G>C	ENSP00000263187:p.Glu321Gln		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.E321Q	ENST00000263187.3	37	c.961	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709739	0.89018	.	.	ENSG00000057468	ENST00000263187	D	0.94966	-3.57	5.44	5.44	0.79542	DNA mismatch repair protein MutS, connector (1);DNA mismatch repair protein MutS, core (2);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.88906	2.99	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.98237	1.0486	10	0.87932	D	0	-17.6713	19.2675	0.93996	0.0:0.0:1.0:0.0	.	321	O15457	MSH4_HUMAN	Q	321	ENSP00000263187:E321Q	ENSP00000263187:E321Q	E	+	1	0	MSH4	76054791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.573000	0.86826	0.655000	0.94253	GAA	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	G	NM_002440		76282203	1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76282203	G	C	76282203	3	2	39	1	0	0	0	0	1	0	0	0	9895	1291	45	1	983	1	MSH4	1	76282203	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	30802065	76282203	172968418	2	5606										
AMY2B	280	genome.wustl.edu	37	chr1	104114862	104114862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	atttagaaacatggtgactaGatgtaacaatgttggggtaa	11	3	0	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:104114862G>C	ENST00000361355.4	+	4	915	c.299G>C	c.(298-300)aGa>aCa	p.R100T	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	100					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGGTGACTAGATGTAACAAT	0.363																																																	0													121	127	125					1																	104114862		2203	4300	6503	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.299G>C	1.37:g.104114862G>C	ENSP00000354610:p.Arg100Thr		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R100T	ENST00000361355.4	37	c.299	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502512	0.85176	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99901	1.1161	10	0.87932	D	0	.	17.5357	0.87830	0.0:0.0:1.0:0.0	.	100	P19961	AMY2B_HUMAN	T	100	ENSP00000354610:R100T	ENSP00000354610:R100T	R	+	2	0	AMY2B	103916385	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.531000	0.98054	2.105000	0.64084	0.460000	0.39030	AGA	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	G	NM_020978		104114862	1	no_errors	ENST00000361355	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104114862	G	C	104114862	3	2	39	1	0	0	0	0	1	0	0	0	595	942	33	1	305	1	AMY2B	1	104114862	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	27832659	104114862	145135759	3	5607										
ASPM	259266	genome.wustl.edu	37	chr1	197072216	197072216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ttctttttggttttgtaagcTctgtatttagactgtatagt	8	4	2	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:197072216T>C	ENST00000367409.4	-	18	6421	c.6165A>G	c.(6163-6165)agA>agG	p.R2055R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2055	IQ 15. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTGTAAGCTCTGTATTTAG	0.348																																																	0													100	106	104					1																	197072216		2202	4296	6498	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6165A>G	1.37:g.197072216T>C			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2055	ENST00000367409.4	37	c.6165	CCDS1389.1	1																																																																																			ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	T	NM_018136		197072216	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	0.108	C	C	197072216	T	C	197072216	2	2	39	1	0	0	0	0	0	0	0	1	1057	1548	54	5		5	ASPM	1	197072216	Silent	SNP	T	TCGA-C5-A3HF-01A-11D-A20U-09	92957354	197072216	52178405	4	5608										
OR1C1	26188	genome.wustl.edu	37	chr1	247920940	247920940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tgaagggctgaaatagacggCgatggctgtgccgtaaaaca	14	7	0	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:247920940C>T	ENST00000408896.2	-	1	1042	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAATAGACGGCGATGGCTGTG	0.517																																																	0													67	67	67					1																	247920940		2049	4212	6261	SO:0001583	missense	26188			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.769G>A	1.37:g.247920940C>T	ENSP00000386138:p.Ala257Thr		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A257T	ENST00000408896.2	37	c.769	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096876	0.37048	.	.	ENSG00000221888	ENST00000408896	T	0.00099	8.73	3.22	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.17248	0.465	0.09310	N	1	P	0.47484	0.896	B	0.43445	0.42	T	0.55541	-0.8125	9	0.72032	D	0.01	.	8.6451	0.34000	0.4059:0.5941:0.0:0.0	.	257	Q15619	OR1C1_HUMAN	T	257	ENSP00000386138:A257T	ENSP00000386138:A257T	A	-	1	0	OR1C1	245987563	0.000000	0.05858	0.976000	0.42696	0.304000	0.27724	-0.142000	0.10311	1.798000	0.52647	0.591000	0.81541	GCC	OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	C			247920940	-1	no_errors	ENST00000408896	ensembl	human	known	70_37	missense	SNP	0.014	T	T	247920940	C	T	247920940	3	4	39	1	0	0	0	0	1	0	0	0	10976	768	27	2	177	2	OR1C1	1	247920940	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	50848724	247920940	1329681	5	5609										
METTL8	79828	genome.wustl.edu	37	chr2	172195993	172195993	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	cctcaacagccaattacgatCcttgaaaaacttattcttat	3	11	2	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:172195993C>G	ENST00000375258.4	-	4	522	c.307G>C	c.(307-309)Gat>Cat	p.D103H		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CAATTACGATCCTTGAAAAAC	0.333																																																	0													73	73	73					2																	172195993		2203	4300	6503	SO:0001583	missense	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.307G>C	2.37:g.172195993C>G	ENSP00000364407:p.Asp103His		Q53TM9|Q53TQ0	Missense_Mutation	SNP	pfam_Methyltransf_11	p.D103H	ENST00000375258.4	37	c.307		2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046396	0.75846	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846	T;T;T;T	0.61980	3.69;1.18;0.06;0.07	5.92	5.0	0.66597	.	0.115661	0.64402	D	0.000014	T	0.77512	0.4141	M	0.80422	2.495	0.42291	D	0.992137	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.65874	0.885;0.939;0.919	T	0.80752	-0.1242	10	0.87932	D	0	-3.5587	11.6845	0.51476	0.0:0.9066:0.0:0.0934	.	58;103;103	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	H	103	ENSP00000364407:D103H;ENSP00000376377:D103H;ENSP00000404646:D103H;ENSP00000411589:D103H	ENSP00000364407:D103H	D	-	1	0	METTL8	171904239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.198000	0.42705	1.343000	0.45638	0.585000	0.79938	GAT	METTL8	-	NULL		0.333	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	C	NM_024770		172195993	-1	no_errors	ENST00000392604	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172195993	C	G	172195993	3	3	39	1	0	0	0	0	1	0	0	0	9530	855	30	1	944	1	METTL8	2	172195993	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09		172195993	71003380	6	5610										
SPEG	10290	genome.wustl.edu	37	chr2	220348578	220348578	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ctgcaaaagagcagcagcttCtcccagggtgaggcggagcc	14	12	1	2	rs373080805		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:220348578C>T	ENST00000312358.7	+	30	6525	c.6393C>T	c.(6391-6393)ttC>ttT	p.F2131F	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2131					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCAGCTTCTCCCAGGGTG	0.736																																																	0													6	8	8					2																	220348578		1792	3963	5755	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6393C>T	2.37:g.220348578C>T			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F2131	ENST00000312358.7	37	c.6393	CCDS42824.1	2																																																																																			SPEG	-	NULL		0.736	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220348578	1	no_errors	ENST00000312358	ensembl	human	novel	70_37	silent	SNP	0.855	T	T	220348578	C	T	220348578	2	4	39	1	0	0	0	0	0	0	0	1	15066	912	32	1		1	SPEG	2	220348578	Silent	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	48152585	220348578	22850795	7	5611										
KIF1A	547	genome.wustl.edu	37	chr2	241664739	241664739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	agaggttgcggatggagcgcGaggctggcagcttggcatca	18	8	1	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:241664739G>A	ENST00000320389.7	-	38	4060	c.3902C>T	c.(3901-3903)tCg>tTg	p.S1301L	KIF1A_ENST00000498729.2_Missense_Mutation_p.S1402L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1301					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GATGGAGCGCGAGGCTGGCAG	0.607																																																	0													49	60	56					2																	241664739		2130	4256	6386	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3902C>T	2.37:g.241664739G>A	ENSP00000322791:p.Ser1301Leu		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1402L	ENST00000320389.7	37	c.4205	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.98|15.98	2.993087|2.993087	0.54041|0.54041	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.74632	.|-0.69;-0.77;-0.86	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.206668	.|0.42821	.|U	.|0.000642	T|T	0.62720|0.62720	0.2451|0.2451	L|L	0.50333|0.50333	1.59|1.59	0.41441|0.41441	D|D	0.98792|0.98792	.|P;P;P	.|0.46952	.|0.589;0.83;0.887	.|B;B;B	.|0.33042	.|0.157;0.09;0.085	T|T	0.69120|0.69120	-0.5229|-0.5229	5|10	.|0.59425	.|D	.|0.04	.|.	11.5142|11.5142	0.50511|0.50511	0.0:0.1821:0.8179:0.0|0.0:0.1821:0.8179:0.0	.|.	.|1402;1410;1301	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	C|L	234|1301;1402;1410;1410	.|ENSP00000322791:S1301L;ENSP00000438388:S1402L;ENSP00000384231:S1410L	.|ENSP00000322791:S1301L	R|S	-|-	1|2	0|0	KIF1A|KIF1A	241313412|241313412	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.732000|0.732000	0.41865|0.41865	7.514000|7.514000	0.81750|0.81750	1.612000|1.612000	0.50221|0.50221	0.591000|0.591000	0.81541|0.81541	CGC|TCG	KIF1A	-	NULL		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241664739	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	0.975	A	A	241664739	G	A	241664739	3	1	39	1	0	0	0	0	1	0	0	0	8303	1059	37	1	1210	1	KIF1A	2	241664739	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	21316161	241664739	1534634	8	5612										
GPM6A	2823	genome.wustl.edu	37	chr4	176594981	176594981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tagatcacatacttaaagatGtcaatcctgagagaaaagac	7	7	2	5			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr4:176594981G>T	ENST00000280187.7	-	4	282	c.237C>A	c.(235-237)gaC>gaA	p.D79E	GPM6A_ENST00000506894.1_Missense_Mutation_p.D68E|GPM6A_ENST00000393658.2_Missense_Mutation_p.D79E|GPM6A_ENST00000515090.1_Missense_Mutation_p.D72E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	79					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ACTTAAAGATGTCAATCCTGA	0.393																																																	0													54	52	52					4																	176594981		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.237C>A	4.37:g.176594981G>T	ENSP00000280187:p.Asp79Glu		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.D79E	ENST00000280187.7	37	c.237	CCDS3824.1	4	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455167	0.26161	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509;ENST00000505561;ENST00000505375;ENST00000513365;ENST00000509865;ENST00000512897;ENST00000507540	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	5.84	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	N	0.25890	0.77	0.58432	D	0.999993	D;D;D	0.69078	0.992;0.992;0.997	D;D;D	0.80764	0.992;0.992;0.994	D	0.96062	0.9039	10	0.02654	T	1	-4.5556	11.3903	0.49811	0.1402:0.0:0.8598:0.0	.	72;68;79	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	E	79;79;68;72;71;16;16;16;16;16;16;16;79;16;16;16	ENSP00000280187:D79E;ENSP00000377268:D79E;ENSP00000421578:D68E;ENSP00000423984:D72E;ENSP00000422959:D71E;ENSP00000426984:D16E;ENSP00000426821:D16E;ENSP00000424075:D16E;ENSP00000421373:D16E;ENSP00000424443:D16E;ENSP00000425409:D16E;ENSP00000424125:D16E;ENSP00000423122:D79E;ENSP00000422712:D16E;ENSP00000425925:D16E;ENSP00000421407:D16E	ENSP00000280187:D79E	D	-	3	2	GPM6A	176831975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.774000	0.47694	1.441000	0.47550	0.591000	0.81541	GAC	GPM6A	-	pfam_Myelin_PLP,prints_Myelin_PLP		0.393	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1	G			176594981	-1	no_errors	ENST00000280187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176594981	G	T	176594981	3	4	39	1	0	0	0	0	1	0	0	0	6634	1368	48	4	619	4	GPM6A	4	176594981	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		176594981	14559295	9	5613										
GPC2	221914	genome.wustl.edu	37	chr7	99773202	99773202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	caggatccctcacctgcaggCggaggcggcggggtgagtcc	17	13	1	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr7:99773202C>T	ENST00000292377.2	-	3	808	c.641G>A	c.(640-642)cGc>cAc	p.R214H	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000426455.1_5'Flank|STAG3_ENST00000394018.2_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCTGCAGGCGGAGGCGGCG	0.612																																																	0													16	17	17					7																	99773202		2203	4299	6502	SO:0001583	missense	221914			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.641G>A	7.37:g.99773202C>T	ENSP00000292377:p.Arg214His		A4D2A7	Missense_Mutation	SNP	pfam_Glypican	p.R214H	ENST00000292377.2	37	c.641	CCDS5689.1	7	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412971	0.42817	.	.	ENSG00000213420	ENST00000292377	T	0.54279	0.58	5.06	4.18	0.49190	.	0.373383	0.26939	N	0.021730	T	0.46249	0.1383	M	0.64567	1.98	0.27964	N	0.936652	B	0.25169	0.119	B	0.13407	0.009	T	0.39840	-0.9594	10	0.34782	T	0.22	-0.2413	9.6173	0.39698	0.0:0.9017:0.0:0.0983	.	214	Q8N158	GPC2_HUMAN	H	214	ENSP00000292377:R214H	ENSP00000292377:R214H	R	-	2	0	GPC2	99611138	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	1.117000	0.31234	1.135000	0.42183	0.306000	0.20318	CGC	GPC2	-	pfam_Glypican		0.612	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	C	NM_152742		99773202	-1	no_errors	ENST00000292377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99773202	C	T	99773202	3	4	39	1	0	0	0	0	1	0	0	0	6617	768	27	2	1130	2	GPC2	7	99773202	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09		99773202	59365461	10	5614										
SMC2	10592	genome.wustl.edu	37	chr9	106882375	106882375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	aaagatgttcaggatgaactGagaatcaaagagaatgagct	11	4	2	5			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr9:106882375G>A	ENST00000286398.7	+	16	2352	c.2064G>A	c.(2062-2064)ctG>ctA	p.L688L	SMC2_ENST00000374793.3_Silent_p.L688L|SMC2_ENST00000374787.3_Silent_p.L688L|SMC2_ENST00000303219.8_Silent_p.L688L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	688					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGGATGAACTGAGAATCAAAG	0.393																																																	0													111	121	118					9																	106882375		2203	4299	6502	SO:0001819	synonymous_variant	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2064G>A	9.37:g.106882375G>A			Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.L688	ENST00000286398.7	37	c.2064	CCDS35086.1	9																																																																																			SMC2	-	superfamily_SMC_hinge		0.393	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	G			106882375	1	no_errors	ENST00000286398	ensembl	human	known	70_37	silent	SNP	0.511	A	A	106882375	G	A	106882375	2	1	39	1	0	0	0	0	0	0	0	1	14813	1277	45	1		1	SMC2	9	106882375	Silent	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		106882375	34331056	11	5615										
OR13F1	138805	genome.wustl.edu	37	chr9	107266772	107266772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	acatctggtactcctcttctGccctctctccaatgctggca	6	16	4	0			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr9:107266772G>T	ENST00000334726.2	+	1	318	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCTCTTCTGCCCTCTCTCC	0.498																																																	0													168	147	154					9																	107266772		2203	4300	6503	SO:0001583	missense	138805				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.229G>T	9.37:g.107266772G>T	ENSP00000334452:p.Ala77Ser		Q6IF50	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A77S	ENST00000334726.2	37	c.229	CCDS35087.1	9	.	.	.	.	.	.	.	.	.	.	G	0.763	-0.768471	0.02974	.	.	ENSG00000186881	ENST00000334726	T	0.01099	5.34	3.91	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.141093	0.32593	N	0.005887	T	0.00496	0.0016	N	0.01482	-0.84	0.23607	N	0.997309	B	0.14012	0.009	B	0.12156	0.007	T	0.47923	-0.9079	10	0.02654	T	1	.	7.7245	0.28753	0.1137:0.0:0.8863:0.0	.	77	Q8NGS4	O13F1_HUMAN	S	77	ENSP00000334452:A77S	ENSP00000334452:A77S	A	+	1	0	OR13F1	106306593	0.000000	0.05858	0.995000	0.50966	0.905000	0.53344	0.787000	0.26858	1.227000	0.43598	0.650000	0.86243	GCC	OR13F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	HGNC	protein_coding	OTTHUMT00000053475.1	G			107266772	1	no_errors	ENST00000334726	ensembl	human	known	70_37	missense	SNP	0.833	T	T	107266772	G	T	107266772	3	4	39	1	0	0	0	0	1	0	0	0	10965	1319	46	4	231	4	OR13F1	9	107266772	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	384397	107266772	33946659	12	5616										
PPFIA1	8500	genome.wustl.edu	37	chr11	70183532	70183532	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	agaagaaacacaacacgataAggtactgaaatcttctctaa	6	8	2	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr11:70183532A>G	ENST00000253925.7	+	12	1705	c.1490A>G	c.(1489-1491)aAg>aGg	p.K497R	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Splice_Site_p.K497R	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	497					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CAACACGATAAGGTACTGAAA	0.363																																																	0													141	126	131					11																	70183532		2200	4294	6494	SO:0001630	splice_region_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1491+1A>G	11.37:g.70183532A>G			A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K497R	ENST00000253925.7	37	c.1490	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587006	0.46110	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.41400	1.0;1.0	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	T	0.46249	0.1383	M	0.64997	1.995	0.51482	D	0.999929	B;P	0.34955	0.205;0.477	B;B	0.40565	0.111;0.333	T	0.51880	-0.8649	10	0.87932	D	0	.	12.4588	0.55721	1.0:0.0:0.0:0.0	.	497;497	Q13136;Q13136-2	LIPA1_HUMAN;.	R	497	ENSP00000253925:K497R;ENSP00000374198:K497R	ENSP00000253925:K497R	K	+	2	0	PPFIA1	69861180	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.709000	0.74665	1.833000	0.53350	0.459000	0.35465	AAG	PPFIA1	-	NULL		0.363	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	A	NM_003626	Missense_Mutation	70183532	1	no_errors	ENST00000253925	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70183532	A	G	70183532	5	3	39	1	0	0	0	0	0	0	1	0	12333	86	3	5	1532	5	PPFIA1	11	70183532	Splice_Site	SNP	A	TCGA-C5-A3HF-01A-11D-A20U-09		70183532	64822984	13	5617										
XRRA1	143570	genome.wustl.edu	37	chr11	74651913	74651913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	catccagcttgtagattcctGagaaggccatctccctgaga	9	12	1	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr11:74651913G>A	ENST00000340360.6	-	3	342	c.11C>T	c.(10-12)tCa>tTa	p.S4L	XRRA1_ENST00000527087.1_Missense_Mutation_p.S4L|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000533598.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTAGATTCCTGAGAAGGCCAT	0.532																																																	0													51	51	51					11																	74651913		2142	4263	6405	SO:0001583	missense	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.11C>T	11.37:g.74651913G>A	ENSP00000339918:p.Ser4Leu			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S4L	ENST00000340360.6	37	c.11	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262977	0.39995	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.55052	0.57;0.54;0.73	5.28	4.33	0.51752	.	0.463132	0.16234	N	0.223442	T	0.49729	0.1574	M	0.65975	2.015	0.19775	N	0.999956	B;B	0.16802	0.006;0.019	B;B	0.17433	0.002;0.018	T	0.46762	-0.9168	10	0.49607	T	0.09	-3.602	8.8683	0.35300	0.1121:0.0:0.8879:0.0	.	4;4	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	L	4	ENSP00000339918:S4L;ENSP00000435838:S4L;ENSP00000437334:S4L	ENSP00000339918:S4L	S	-	2	0	XRRA1	74329561	0.581000	0.26741	0.294000	0.24946	0.874000	0.50279	3.103000	0.50298	1.276000	0.44395	0.563000	0.77884	TCA	XRRA1	-	NULL		0.532	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	G	NM_182969		74651913	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	missense	SNP	0.296	A	A	74651913	G	A	74651913	3	1	39	1	0	0	0	0	1	0	0	0	17492	1294	45	1	2435	1	XRRA1	11	74651913	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	4468381	74651913	60354603	14	5618										
KRAS	3845	genome.wustl.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)											88	78	82					12																	25398281		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13D	ENST00000256078.4	37	c.38	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398281	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25398281	C	T	25398281	3	4	39	1	0	0	0	0	1	0	0	0	8458	739	26	4	668	4	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09		25398281	108453614	15	5619										
CCDC92	80212	genome.wustl.edu	37	chr12	124421823	124421823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ggggatgacgaggggcctctCtttgatgaggtggacctcgg	18	8	1	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:124421823C>G	ENST00000238156.3	-	5	1132	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	CCDC92_ENST00000545135.1_Missense_Mutation_p.E243Q|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.E243Q|CCDC92_ENST00000544798.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	260						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		AGGGGCCTCTCTTTGATGAGG	0.652																																																	0													32	39	36					12																	124421823		2203	4300	6503	SO:0001583	missense	80212			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.778G>C	12.37:g.124421823C>G	ENSP00000238156:p.Glu260Gln		B3KNQ0|Q9H697	Missense_Mutation	SNP	NULL	p.E260Q	ENST00000238156.3	37	c.778	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260423	0.80246	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.29655	1.56;1.58;1.58	5.43	5.43	0.79202	.	0.238958	0.42964	D	0.000627	T	0.42607	0.1210	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.61658	0.892	T	0.14783	-1.0460	10	0.38643	T	0.18	0.0012	19.2469	0.93905	0.0:1.0:0.0:0.0	.	260	Q53HC0	CCD92_HUMAN	Q	260;243;243	ENSP00000238156:E260Q;ENSP00000439526:E243Q;ENSP00000440024:E243Q	ENSP00000238156:E260Q	E	-	1	0	CCDC92	122987776	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.605000	0.61119	2.555000	0.86185	0.505000	0.49811	GAG	CCDC92	-	NULL		0.652	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	C	NM_025140		124421823	-1	no_errors	ENST00000238156	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124421823	C	G	124421823	3	3	39	1	0	0	0	0	1	0	0	0	2876	922	32	1	221	1	CCDC92	12	124421823	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	99023542	124421823	9430072	16	5620										
KIAA1024	23251	genome.wustl.edu	37	chr15	79750542	79750542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	accctgactggtgctgctctGatgctagcgggagcaacagt	13	11	1	2			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr15:79750542G>A	ENST00000305428.3	+	2	2128	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	685						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTGCTGCTCTGATGCTAGCGG	0.567																																																	0													165	164	164					15																	79750542		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2053G>A	15.37:g.79750542G>A	ENSP00000307461:p.Asp685Asn		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.D685N	ENST00000305428.3	37	c.2053	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846308	0.71603	.	.	ENSG00000169330	ENST00000305428	T	0.36157	1.27	5.59	5.59	0.84812	.	0.205850	0.50627	D	0.000120	T	0.52933	0.1765	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	P	0.53954	0.738	T	0.49725	-0.8909	9	.	.	.	.	19.5838	0.95484	0.0:0.0:1.0:0.0	.	685	Q9UPX6	K1024_HUMAN	N	685	ENSP00000307461:D685N	.	D	+	1	0	KIAA1024	77537597	1.000000	0.71417	0.145000	0.22337	0.213000	0.24496	9.184000	0.94893	2.634000	0.89283	0.591000	0.81541	GAT	KIAA1024	-	NULL		0.567	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	G	NM_015206		79750542	1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.998	A	A	79750542	G	A	79750542	3	1	39	1	0	0	0	0	1	0	0	0	8225	1290	45	1	2055	1	KIAA1024	15	79750542	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		79750542	22780850	17	5621										
IGFALS	3483	genome.wustl.edu	37	chr16	1841503	1841503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	gtccttgaaggtgcggggccGcaggctggcgatggcgttgt	19	9	0	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr16:1841503G>A	ENST00000215539.3	-	2	1026	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	IGFALS_ENST00000415638.3_Missense_Mutation_p.R344W			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	306					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GTGCGGGGCCGCAGGCTGGCG	0.692																																																	0													17	19	18					16																	1841503		2188	4295	6483	SO:0001583	missense	3483			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.916C>T	16.37:g.1841503G>A	ENSP00000215539:p.Arg306Trp		B4DZY8|E9PGU3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R344W	ENST00000215539.3	37	c.1030	CCDS10446.1	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940433	0.52972	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.25085	1.82;1.82	5.37	4.39	0.52855	.	0.105674	0.64402	D	0.000010	T	0.47154	0.1430	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.47315	-0.9127	10	0.72032	D	0.01	.	11.6357	0.51202	0.0:0.0:0.5638:0.4362	.	344;306	E9PGU3;P35858	.;ALS_HUMAN	W	306;344	ENSP00000215539:R306W;ENSP00000416683:R344W	ENSP00000215539:R306W	R	-	1	2	IGFALS	1781504	0.999000	0.42202	0.998000	0.56505	0.962000	0.63368	1.062000	0.30555	1.225000	0.43566	0.561000	0.74099	CGG	IGFALS	-	smart_Leu-rich_rpt_typical-subtyp		0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2	G			1841503	-1	no_errors	ENST00000415638	ensembl	human	known	70_37	missense	SNP	0.989	A	A	1841503	G	A	1841503	3	1	39	1	0	0	0	0	1	0	0	0	7597	1086	38	2	905	2	IGFALS	16	1841503	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		1841503	88513250	18	5622										
UBN1	29855	genome.wustl.edu	37	chr16	4910677	4910677	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	gcttgcagcttcacagccctCaatgccagtaaggagaagaa	10	11	2	2			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr16:4910677C>G	ENST00000396658.4	+	6	1387	c.684C>G	c.(682-684)ctC>ctG	p.L228L	UBN1_ENST00000262376.6_Silent_p.L228L|UBN1_ENST00000590769.1_Silent_p.L228L|UBN1_ENST00000545171.1_Silent_p.L228L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	228	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L228L(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCACAGCCCTCAATGCCAGTA	0.458																																																	1	Substitution - coding silent(1)	endometrium(1)											140	153	149					16																	4910677		2196	4300	6496	SO:0001819	synonymous_variant	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.684C>G	16.37:g.4910677C>G			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	NULL	p.L228	ENST00000396658.4	37	c.684	CCDS10525.1	16																																																																																			UBN1	-	NULL		0.458	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	C	NM_016936		4910677	1	no_errors	ENST00000262376	ensembl	human	known	70_37	silent	SNP	0.999	G	G	4910677	C	G	4910677	2	3	39	1	0	0	0	0	0	0	0	1	16923	813	29	1		1	UBN1	16	4910677	Silent	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	3069174	4910677	85444076	19	5623										
LRRC30	339291	genome.wustl.edu	37	chr18	7231199	7231199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	cccaagaggatgctgttcacGgggaggagacagaagttttc	14	8	1	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr18:7231199G>A	ENST00000383467.2	+	1	77	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	21										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTGTTCACGGGGAGGAGAC	0.622																																																	0													64	70	68					18																	7231199		1990	4158	6148	SO:0001819	synonymous_variant	339291				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.63G>A	18.37:g.7231199G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T21	ENST00000383467.2	37	c.63	CCDS42409.1	18																																																																																			LRRC30	-	NULL		0.622	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	G	XM_292678		7231199	1	no_errors	ENST00000383467	ensembl	human	known	70_37	silent	SNP	0.000	A	A	7231199	G	A	7231199	2	1	39	1	0	0	0	0	0	0	0	1	9008	1103	39	2		2	LRRC30	18	7231199	Silent	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		7231199	70846049	20	5624										
CREB3L3	84699	genome.wustl.edu	37	chr19	4157158	4157158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tccacgcagcggaccagccaCctcccccgccggctgccatc	9	22	0	0			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:4157158C>T	ENST00000078445.2	+	3	470	c.323C>T	c.(322-324)aCc>aTc	p.T108I	CREB3L3_ENST00000602257.1_Missense_Mutation_p.T108I|CREB3L3_ENST00000595923.1_Missense_Mutation_p.T107I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.T108I|CREB3L3_ENST00000252587.3_Missense_Mutation_p.T98I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	108					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCAGCCACCTCCCCCGCC	0.677																																																	0													56	56	56					19																	4157158		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.323C>T	19.37:g.4157158C>T	ENSP00000078445:p.Thr108Ile		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.T108I	ENST00000078445.2	37	c.323	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553360	0.27739	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.76578	-1.03;-1.03	4.83	-0.825	0.10809	.	1.121610	0.06793	N	0.787403	T	0.57036	0.2026	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27416	0.032;0.019;0.178;0.112	B;B;B;B	0.24541	0.025;0.007;0.054;0.024	T	0.40664	-0.9551	10	0.36615	T	0.2	-6.2412	3.402	0.07327	0.3677:0.3912:0.0:0.2411	.	108;108;107;108	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	I	108;108;98	ENSP00000078445:T108I;ENSP00000252587:T98I	ENSP00000078445:T108I	T	+	2	0	CREB3L3	4108158	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.214000	0.09292	-0.362000	0.08113	0.430000	0.28490	ACC	CREB3L3	-	NULL		0.677	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	C	NM_032607		4157158	1	no_errors	ENST00000078445	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4157158	C	T	4157158	3	4	39	1	0	0	0	0	1	0	0	0	3863	507	18	4	333	4	CREB3L3	19	4157158	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09		4157158	54971825	21	5625										
MUC16	94025	genome.wustl.edu	37	chr19	9057967	9057967	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	gtcagctaggacagaggaatGagattcatgaacagaactgg	13	6	2	4			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:9057967G>A	ENST00000397910.4	-	3	29682	c.29479C>T	c.(29479-29481)Cat>Tat	p.H9827Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9829	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAGGAATGAGATTCATGA	0.468																																																	0													133	132	133					19																	9057967		2047	4197	6244	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29479C>T	19.37:g.9057967G>A	ENSP00000381008:p.His9827Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H9827Y	ENST00000397910.4	37	c.29479	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.678	0.126004	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	2.43	-1.34	0.09143	.	.	.	.	.	T	0.10078	0.0247	N	0.08118	0	.	.	.	P	0.49253	0.921	B	0.43623	0.425	T	0.21724	-1.0237	8	0.87932	D	0	.	4.7324	0.12972	0.0:0.2086:0.3671:0.4243	.	9827	B5ME49	.	Y	9827	ENSP00000381008:H9827Y	ENSP00000381008:H9827Y	H	-	1	0	MUC16	8918967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.480000	0.06559	-0.181000	0.10619	0.557000	0.71058	CAT	MUC16	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9057967	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9057967	G	A	9057967	3	1	39	1	0	0	0	0	1	0	0	0	9996	1290	45	1	14372	1	MUC16	19	9057967	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	4900809	9057967	50071016	22	5626										
MUC16	94025	genome.wustl.edu	37	chr19	9062922	9062922	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tttctgtggaagtctctggtGacactgtgagctgagcaaag	13	7	2	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:9062922G>A	ENST00000397910.4	-	3	24727	c.24524C>T	c.(24523-24525)tCa>tTa	p.S8175L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8177	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCTGGTGACACTGTGAG	0.507																																																	0													127	123	124					19																	9062922		2083	4220	6303	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24524C>T	19.37:g.9062922G>A	ENSP00000381008:p.Ser8175Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S8175L	ENST00000397910.4	37	c.24524	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.978	0.750473	0.15778	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.31	1.15	0.20763	.	.	.	.	.	T	0.02083	0.0065	N	0.17082	0.46	.	.	.	B	0.32573	0.376	B	0.32583	0.148	T	0.37174	-0.9717	8	0.87932	D	0	.	5.502	0.16834	0.2623:0.0:0.7377:0.0	.	8175	B5ME49	.	L	8175	ENSP00000381008:S8175L	ENSP00000381008:S8175L	S	-	2	0	MUC16	8923922	0.022000	0.18835	0.003000	0.11579	0.061000	0.15899	2.204000	0.42761	0.412000	0.25729	0.508000	0.49915	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9062922	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.003	A	A	9062922	G	A	9062922	3	1	39	1	0	0	0	0	1	0	0	0	9996	1294	45	1	19327	1	MUC16	19	9062922	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	4955	9062922	50066061	23	5627										
SIX5	147912	genome.wustl.edu	37	chr19	46270270	46270270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ccaggatggaggaggaagccGggcaaggcgcgggagggccg	22	9	0	0	rs561325897		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:46270270G>A	ENST00000317578.6	-	2	1328	c.947C>T	c.(946-948)cCg>cTg	p.P316L	AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	316					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GGAGGAAGCCGGGCAAGGCGC	0.706													G|||	1	0.000199681	0	0	5008	,	,		14213	0		0	False		,,,				2504	0.001																0													10	12	12					19																	46270270		2183	4280	6463	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.947C>T	19.37:g.46270270G>A	ENSP00000316842:p.Pro316Leu			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P316L	ENST00000317578.6	37	c.947	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	g	8.559	0.877360	0.17395	.	.	ENSG00000177045	ENST00000317578	D	0.89617	-2.54	4.2	4.2	0.49525	.	0.583336	0.13097	N	0.414081	T	0.68696	0.3029	N	0.08118	0	0.80722	D	1	P	0.42375	0.778	B	0.26864	0.074	T	0.68473	-0.5399	10	0.10377	T	0.69	-6.8518	7.8188	0.29276	0.1128:0.0:0.8872:0.0	.	316	Q8N196	SIX5_HUMAN	L	316	ENSP00000316842:P316L	ENSP00000316842:P316L	P	-	2	0	SIX5	50962110	0.989000	0.36119	0.988000	0.46212	0.231000	0.25187	2.073000	0.41519	2.163000	0.67991	0.561000	0.74099	CCG	SIX5	-	NULL		0.706	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	G	NM_175875		46270270	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	0.993	A	A	46270270	G	A	46270270	3	1	39	1	0	0	0	0	1	0	0	0	14380	1116	39	2	1280	2	SIX5	19	46270270	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	37207348	46270270	12858713	24	5628										
BCAT2	587	genome.wustl.edu	37	chr19	49300457	49300457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ggtgggcttacccccatcttCgtgggtccagtagacaaaga	12	11	1	2			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:49300457C>T	ENST00000316273.6	-	7	841	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	BCAT2_ENST00000598162.1_Missense_Mutation_p.E277K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E185K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E185K|BCAT2_ENST00000402551.1_Missense_Mutation_p.E237K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E237K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	277					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	CCCCCATCTTCGTGGGTCCAG	0.607																																																	0													58	48	52					19																	49300457		2203	4300	6503	SO:0001583	missense	587			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.829G>A	19.37:g.49300457C>T	ENSP00000322991:p.Glu277Lys		B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.E277K	ENST00000316273.6	37	c.829	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341015	0.41498	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.22134	1.97;1.97;1.97	5.06	0.514	0.17007	Aminotransferase, class IV, conserved site (1);	0.406531	0.28236	N	0.016089	T	0.11367	0.0277	N	0.20328	0.56	0.54753	D	0.999984	B;B;B;B	0.23891	0.093;0.007;0.005;0.043	B;B;B;B	0.23716	0.048;0.02;0.006;0.033	T	0.17868	-1.0355	10	0.20519	T	0.43	-4.9789	9.397	0.38408	0.0:0.675:0.0:0.325	.	237;277;185;277	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	277;185;237	ENSP00000322991:E277K;ENSP00000440973:E185K;ENSP00000385161:E237K	ENSP00000322991:E277K	E	-	1	0	BCAT2	53992269	0.018000	0.18449	0.994000	0.49952	0.871000	0.50021	0.242000	0.18087	0.273000	0.22049	-0.658000	0.03865	GAA	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	C			49300457	-1	no_errors	ENST00000316273	ensembl	human	known	70_37	missense	SNP	0.769	T	T	49300457	C	T	49300457	3	4	39	1	0	0	0	0	1	0	0	0	1356	893	31	1	369	1	BCAT2	19	49300457	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	3030187	49300457	9828526	25	5629										
ETFB	2109	genome.wustl.edu	37	chr19	51848515	51848515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	caccaggtcctcagtggtctCcaccttgacgccggccgtgc	11	17	2	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:51848515C>T	ENST00000309244.4	-	6	809	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA|CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.E331K	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	240					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TCAGTGGTCTCCACCTTGACG	0.587																																																	0													113	108	110					19																	51848515		2203	4300	6503	SO:0001583	missense	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.718G>A	19.37:g.51848515C>T	ENSP00000311930:p.Glu240Lys		A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.E331K	ENST00000309244.4	37	c.991	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237615	0.58886	.	.	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.83250	-1.7;-1.7	4.2	4.2	0.49525	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	L	0.47716	1.5	0.80722	D	1	B;B	0.30634	0.064;0.288	B;B	0.31751	0.015;0.135	T	0.73626	-0.3923	10	0.22706	T	0.39	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	240;331	P38117;P38117-2	ETFB_HUMAN;.	K	240;331	ENSP00000311930:E240K;ENSP00000346173:E331K	ENSP00000311930:E240K	E	-	1	0	ETFB	56540327	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	6.765000	0.74965	2.626000	0.88956	0.655000	0.94253	GAG	ETFB	-	NULL		0.587	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	C			51848515	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51848515	C	T	51848515	3	4	39	1	0	0	0	0	1	0	0	0	5282	864	30	1	53	1	ETFB	19	51848515	Missense_Mutation	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	2548058	51848515	7280468	26	5630										
TNNI3	7137	genome.wustl.edu	37	chr19	55668952	55668952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tggggcatcactcacccatcCgccatgctgagactcaggcc	10	16	3	1	rs397516361		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A). {ECO:0000269|PubMed:15070570}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687																																																	0													84	94	91					19																	55668952		1969	4167	6136	SO:0001819	synonymous_variant	7137			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.6G>A	19.37:g.55668952C>T				Silent	SNP	pfam_Troponin,pfam_Troponin-I_N	p.A2	ENST00000344887.5	37	c.6	CCDS42628.1	19																																																																																			TNNI3	-	NULL		0.687	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	C			55668952	-1	no_errors	ENST00000344887	ensembl	human	known	70_37	silent	SNP	0.802	T	T	55668952	C	T	55668952	2	4	39	1	0	0	0	0	0	0	0	1	16358	639	23	2		2	TNNI3	19	55668952	Silent	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09	3820437	55668952	3460031	27	5631										
SMOX	54498	genome.wustl.edu	37	chr20	4155761	4155761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ccctctcagtcgcggcctacGgagaaggggacagcctcgtg	14	14	1	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr20:4155761G>A	ENST00000305958.4	+	2	284	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Missense_Mutation_p.R20Q|SMOX_ENST00000339123.6_Missense_Mutation_p.R20Q|SMOX_ENST00000346595.2_Missense_Mutation_p.R20Q|SMOX_ENST00000278795.3_Missense_Mutation_p.R20Q	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	20					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CGCGGCCTACGGAGAAGGGGA	0.612																																																	0													168	146	153					20																	4155761		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.59G>A	20.37:g.4155761G>A	ENSP00000307252:p.Arg20Gln		A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.R20Q	ENST00000305958.4	37	c.59	CCDS13075.1	20	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816402	0.70912	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460	T;T;T;T;T	0.47528	1.44;1.83;1.42;0.84;1.83	5.18	4.18	0.49190	.	0.184033	0.47852	D	0.000204	T	0.34164	0.0888	N	0.24115	0.695	0.41587	D	0.988774	P;P;P;P;P;P	0.52577	0.553;0.954;0.642;0.85;0.681;0.911	B;B;B;B;B;B	0.42087	0.155;0.375;0.059;0.213;0.218;0.228	T	0.10823	-1.0613	9	.	.	.	-12.2484	14.2728	0.66162	0.0:0.1502:0.8498:0.0	.	20;20;20;20;20;20	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	Q	20	ENSP00000344595:R20Q;ENSP00000307252:R20Q;ENSP00000278795:R20Q;ENSP00000341775:R20Q;ENSP00000368773:R20Q	.	R	+	2	0	SMOX	4103761	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	4.278000	0.58946	2.572000	0.86782	0.650000	0.86243	CGG	SMOX	-	NULL		0.612	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	G	NM_175842		4155761	1	no_errors	ENST00000305958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4155761	G	A	4155761	3	1	39	1	0	0	0	0	1	0	0	0	14833	1116	39	2	61	2	SMOX	20	4155761	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		4155761	58869759	28	5632										
PTPRT	11122	genome.wustl.edu	37	chr20	40979319	40979319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	tcagcatcactgtgatggtcGtgtctgtctcattcaatggg	11	9	5	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr20:40979319G>A	ENST00000373187.1	-	11	1813	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M	PTPRT_ENST00000356100.2_Missense_Mutation_p.T605M|PTPRT_ENST00000373184.1_Missense_Mutation_p.T605M|PTPRT_ENST00000373201.1_Missense_Mutation_p.T605M|PTPRT_ENST00000373190.1_Missense_Mutation_p.T605M|PTPRT_ENST00000373193.3_Missense_Mutation_p.T605M|PTPRT_ENST00000373198.4_Missense_Mutation_p.T605M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	605	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in a colorectal cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTGATGGTCGTGTCTGTCTC	0.527																																																	0													185	192	190					20																	40979319		2083	4216	6299	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1814C>T	20.37:g.40979319G>A	ENSP00000362283:p.Thr605Met		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T605M	ENST00000373187.1	37	c.1814	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188051	0.78789	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.38077	1.17;1.17;1.17;1.16;1.16;1.18;1.18	6.06	6.06	0.98353	.	0.099808	0.64402	D	0.000002	T	0.54240	0.1846	L	0.55481	1.735	0.48511	D	0.999662	D;D	0.71674	0.998;0.997	D;P	0.64042	0.921;0.776	T	0.52638	-0.8549	10	0.87932	D	0	.	16.0307	0.80574	0.0:0.1335:0.8665:0.0	.	605;605	O14522-1;O14522	.;PTPRT_HUMAN	M	605	ENSP00000362286:T605M;ENSP00000362283:T605M;ENSP00000362289:T605M;ENSP00000348408:T605M;ENSP00000362294:T605M;ENSP00000362280:T605M;ENSP00000362297:T605M	ENSP00000348408:T605M	T	-	2	0	PTPRT	40412733	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.030000	0.49720	2.882000	0.98803	0.655000	0.94253	ACG	PTPRT	-	NULL		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40979319	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40979319	G	A	40979319	3	1	39	1	0	0	0	0	1	0	0	0	12842	1145	40	2	2656	2	PTPRT	20	40979319	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09	36823558	40979319	22046201	29	5633										
DEPDC5	9681	genome.wustl.edu	37	chr22	32302364	32302364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	ggcgctccagcgccacagggGatgaaaagtttgctgatcgg	15	10	0	2			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr22:32302364G>A	ENST00000382112.3	+	42	4736	c.4666G>A	c.(4666-4668)Gat>Aat	p.D1556N	DEPDC5_ENST00000535622.1_Missense_Mutation_p.D1465N|DEPDC5_ENST00000382111.2_Silent_p.G1544G|DEPDC5_ENST00000400246.1_Silent_p.G1544G|DEPDC5_ENST00000400248.2_Missense_Mutation_p.D1534N|DEPDC5_ENST00000539165.1_Missense_Mutation_p.D382N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D1543N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D1534N|DEPDC5_ENST00000382105.2_3'UTR	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1565					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGCCACAGGGGATGAAAAGTT	0.557																																																	0													124	130	128					22																	32302364		2050	4204	6254	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4666G>A	22.37:g.32302364G>A	ENSP00000371546:p.Asp1556Asn		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.D1543N	ENST00000382112.3	37	c.4627	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.338834|4.338834	0.81911|0.81911	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165|ENST00000433147	T;T;T;T;T|T	0.41065|0.35605	1.01;1.46;1.46;1.46;1.46|1.3	4.97|4.97	3.96|3.96	0.45880|0.45880	.|.	0.229359|.	0.33834|.	N|.	0.004512|.	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.35341|0.35341	1.055|1.055	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.69078|.	0.997;0.997;0.996;0.997;0.993|.	D;D;D;D;D|.	0.79784|.	0.989;0.98;0.993;0.989;0.984|.	T|T	0.23476|0.23476	-1.0187|-1.0187	10|7	0.28530|0.52906	T|T	0.3|0.07	.|.	12.6961|12.6961	0.57005|0.57005	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	1565;1465;1543;1556;1534|.	B9EGN9;B4DH93;O75140-4;A8MPX9;O75140|.	.;.;.;.;DEPD5_HUMAN|.	N|E	1465;1543;1534;1465;1556;1534;382|940	ENSP00000440210:D1465N;ENSP00000266091:D1543N;ENSP00000383108:D1534N;ENSP00000371546:D1556N;ENSP00000383107:D1534N|ENSP00000410544:G940E	ENSP00000266091:D1543N|ENSP00000410544:G940E	D|G	+|+	1|2	0|0	DEPDC5|DEPDC5	30632364|30632364	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.950000|0.950000	0.60333|0.60333	9.427000|9.427000	0.97472|0.97472	1.251000|1.251000	0.43983|0.43983	0.448000|0.448000	0.29417|0.29417	GAT|GGA	DEPDC5	-	NULL		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	G	NM_014662		32302364	1	no_errors	ENST00000266091	ensembl	human	known	70_37	missense	SNP	0.991	A	A	32302364	G	A	32302364	3	1	39	1	0	0	0	0	1	0	0	0	4452	1174	41	1	4850	1	DEPDC5	22	32302364	Missense_Mutation	SNP	G	TCGA-C5-A3HF-01A-11D-A20U-09		32302364	19002202	30	5634										
SBF1	6305	genome.wustl.edu	37	chr22	50897698	50897698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	cctcaccgtgactgcccatgTgggctgaggagaagccgcta	13	13	1	3			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr22:50897698T>C	ENST00000390679.3	-	28	3996	c.3812A>G	c.(3811-3813)cAc>cGc	p.H1271R	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.H1272R|SBF1_ENST00000380817.3_Missense_Mutation_p.H1271R			O95248	MTMR5_HUMAN	SET binding factor 1	1271	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACTGCCCATGTGGGCTGAGGA	0.657																																																	0													20	25	23					22																	50897698		2057	4191	6248	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3812A>G	22.37:g.50897698T>C	ENSP00000375097:p.His1271Arg		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.H1271R	ENST00000390679.3	37	c.3812		22	.	.	.	.	.	.	.	.	.	.	T	13.34	2.206780	0.39003	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.05;-2.06	4.44	4.44	0.53790	Myotubularin phosphatase domain (1);	0.954662	0.08707	N	0.905443	D	0.84862	0.5566	L	0.51422	1.61	0.80722	D	1	B;P	0.52316	0.002;0.952	B;P	0.47075	0.002;0.536	T	0.77953	-0.2394	10	0.25751	T	0.34	.	13.4936	0.61411	0.0:0.0:0.0:1.0	.	1271;1271	O95248;O95248-4	MTMR5_HUMAN;.	R	1271;1272;1281;1271	ENSP00000370196:H1271R;ENSP00000252027:H1272R;ENSP00000375097:H1271R	ENSP00000336522:H1281R	H	-	2	0	SBF1	49244564	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.429000	0.80309	1.850000	0.53721	0.459000	0.35465	CAC	SBF1	-	NULL		0.657	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		T			50897698	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50897698	T	C	50897698	3	2	39	1	0	0	0	0	1	0	0	0	13888	1696	59	5	1925	5	SBF1	22	50897698	Missense_Mutation	SNP	T	TCGA-C5-A3HF-01A-11D-A20U-09	18595334	50897698	406868	31	5635										
RAB40A	142684	genome.wustl.edu	37	chrX	102755559	102755559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.00750557051339797	2.46452059536172	5.32336448598131	1.81478334749363	0.656281798696659	0.837622822020736	6	atccccccgagatggctgtaCggggactcagctgcaccatc	11	15	1	1			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chrX:102755559C>T	ENST00000372633.1	-	1	2244	c.126G>A	c.(124-126)ccG>ccA	p.P42P	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Silent_p.P42P			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	42					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.P42P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GATGGCTGTACGGGGACTCAG	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)											125	110	115					X																	102755559		2203	4300	6503	SO:0001819	synonymous_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.126G>A	X.37:g.102755559C>T			O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P42	ENST00000372633.1	37	c.126	CCDS35357.1	X																																																																																			RAB40A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.607	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40A	HGNC	protein_coding	OTTHUMT00000057714.1	C			102755559	-1	no_errors	ENST00000304236	ensembl	human	known	70_37	silent	SNP	0.274	T	T	102755559	C	T	102755559	2	4	39	1	0	0	0	0	0	0	0	1	12969	523	19	2		2	RAB40A	23	102755559	Silent	SNP	C	TCGA-C5-A3HF-01A-11D-A20U-09		102755559	52515001	32	5636										
MAN1C1	57134	genome.wustl.edu	37	chr1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gaacgagggccgatgagagtCaggagccccagagccaagtg	16	10	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637																																																	0													16	12	14					1																	25944781		1843	3823	5666	SO:0001587	stop_gained	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.493C>T	1.37:g.25944781C>T	ENSP00000363452:p.Gln165*		A6NNE2|B2RNP2|Q9Y545	Nonsense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q165*	ENST00000374332.4	37	c.493	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.537383	0.96460	.	.	ENSG00000117643	ENST00000374332	.	.	.	4.67	-9.33	0.00639	.	2.652800	0.01007	N	0.003765	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	3.4789	0.07595	0.1568:0.412:0.3136:0.1176	.	.	.	.	X	165	.	ENSP00000363452:Q165X	Q	+	1	0	MAN1C1	25817368	0.011000	0.17503	0.002000	0.10522	0.429000	0.31625	-0.297000	0.08276	-1.376000	0.02126	-0.867000	0.03001	CAG	MAN1C1	-	superfamily_Glyco_hydro_47		0.637	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	C	NM_020379		25944781	1	no_errors	ENST00000374332	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	25944781	C	T	25944781	4	4	40	1	0	0	0	0	0	1	0	0	9236	827	29	1	495	1	MAN1C1	1	25944781	Nonsense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		25944781	223305840	1	5637										
LIN28A	79727	genome.wustl.edu	37	chr1	26751847	26751847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	aaggagggtgaggcagtggaGttcacctttaagaagtcagc	15	6	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:26751847G>T	ENST00000326279.6	+	3	396	c.282G>T	c.(280-282)gaG>gaT	p.E94D	LIN28A_ENST00000254231.4_Missense_Mutation_p.E94D	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	94	CSD.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGGCAGTGGAGTTCACCTTTA	0.473																																																	0													120	115	117					1																	26751847		2203	4300	6503	SO:0001583	missense	79727			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"Zinc fingers, CCHC domain containing"	15986	protein-coding gene	gene with protein product		611043	"lin-28 homolog (C. elegans)"	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.282G>T	1.37:g.26751847G>T	ENSP00000363314:p.Glu94Asp			Missense_Mutation	SNP	pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.E94D	ENST00000326279.6	37	c.282	CCDS280.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613677	0.46631	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.56275	0.47;0.47	5.08	-0.0829	0.13696	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.352416	0.28296	N	0.015867	T	0.43986	0.1272	M	0.64997	1.995	0.24617	N	0.993696	B	0.09022	0.002	B	0.10450	0.005	T	0.42682	-0.9437	10	0.87932	D	0	.	6.124	0.20170	0.4416:0.127:0.4314:0.0	.	94	Q9H9Z2	LN28A_HUMAN	D	94	ENSP00000363314:E94D;ENSP00000254231:E94D	ENSP00000254231:E94D	E	+	3	2	LIN28A	26624434	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	3.040000	0.49799	-0.151000	0.11176	-0.182000	0.12963	GAG	LIN28A	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd		0.473	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28A	HGNC	protein_coding	OTTHUMT00000009891.2	G	NM_024674		26751847	1	no_errors	ENST00000254231	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26751847	G	T	26751847	3	4	40	1	0	0	0	0	1	0	0	0	8826	1020	36	4	292	4	LIN28A	1	26751847	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	807066	26751847	222498774	2	5638										
PABPC4	8761	genome.wustl.edu	37	chr1	40030878	40030878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttccagccactcgttgcataTactggttggtcaggtgagcc	11	11	1	1	rs9820		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:40030878T>C	ENST00000372857.3	-	8	1937	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	PABPC4_ENST00000372858.3_Missense_Mutation_p.Y382C|PABPC4_ENST00000372862.3_Missense_Mutation_p.Y382C|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.Y382C|SNORA55_ENST00000364587.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	382			Y -> F (in dbSNP:rs9820).		blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGTTGCATATACTGGTTGGT	0.537																																																	0													112	93	99					1																	40030878		2203	4300	6503	SO:0001583	missense	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1145A>G	1.37:g.40030878T>C	ENSP00000361948:p.Tyr382Cys		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.Y382C	ENST00000372857.3	37	c.1145	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.517095|4.517095	0.85495|0.85495	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.16457	.|2.41;2.45;2.43;2.34	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35941|0.35941	0.0949|0.0949	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.52577	.|0.813;0.954;0.71	.|B;P;P	.|0.51866	.|0.413;0.618;0.682	T|T	0.16541|0.16541	-1.0399|-1.0399	5|10	.|0.66056	.|D	.|0.02	.|.	16.4311|16.4311	0.83844|0.83844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|382;382;382	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	V|C	284;109|382	.|ENSP00000361953:Y382C;ENSP00000361949:Y382C;ENSP00000361948:Y382C;ENSP00000361947:Y382C	.|ENSP00000361947:Y382C	I|Y	-|-	1|2	0|0	PABPC4|PABPC4	39803465|39803465	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	8.013000|8.013000	0.88655|0.88655	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	ATA|TAT	PABPC4	-	tigrfam_PABP_1234		0.537	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	T	NM_001135653		40030878	-1	no_errors	ENST00000372858	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40030878	T	C	40030878	3	2	40	1	0	0	0	0	1	0	0	0	11390	1406	49	5	869	5	PABPC4	1	40030878	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	13279031	40030878	209219743	3	5639										
ZFYVE9	9372	genome.wustl.edu	37	chr1	52798442	52798442	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttatctctttgattgcagatGatgaaagccatgaacaagtc	8	7	1	5			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:52798442G>C	ENST00000371591.1	+	13	3572	c.3441G>C	c.(3439-3441)atG>atC	p.M1147I	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.M1088I|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.M1147I|ZFYVE9_ENST00000469134.1_3'UTR	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1147					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATTGCAGATGATGAAAGCCA	0.408																																																	0													82	75	78					1																	52798442		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3441G>C	1.37:g.52798442G>C	ENSP00000360647:p.Met1147Ile		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.M1147I	ENST00000371591.1	37	c.3441	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797914	0.50208	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.37235	1.31;1.21;1.21	4.83	4.83	0.62350	Domain of unknown function DUF3480 (1);	0.125321	0.52532	D	0.000075	T	0.28896	0.0717	L	0.31065	0.9	0.52501	D	0.999957	B;B	0.33171	0.4;0.001	B;B	0.26969	0.075;0.026	T	0.17198	-1.0377	10	0.66056	D	0.02	.	18.1117	0.89538	0.0:0.0:1.0:0.0	.	1088;1147	O95405-2;O95405	.;ZFYV9_HUMAN	I	1088;1147;1147	ENSP00000349737:M1088I;ENSP00000287727:M1147I;ENSP00000360647:M1147I	ENSP00000287727:M1147I	M	+	3	0	ZFYVE9	52571030	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.114000	0.71560	2.518000	0.84900	0.557000	0.71058	ATG	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.408	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	G	NM_007324		52798442	1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52798442	G	C	52798442	3	2	40	1	0	0	0	0	1	0	0	0	17701	1290	45	1	3498	1	ZFYVE9	1	52798442	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	12767564	52798442	196452179	4	5640										
HMCN1	83872	genome.wustl.edu	37	chr1	186141187	186141187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agaccagatcagcactgtaaGaacacccgtggtggctataa	10	10	1	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:186141187G>A	ENST00000271588.4	+	102	15967	c.15738G>A	c.(15736-15738)aaG>aaA	p.K5246K	HMCN1_ENST00000367492.2_Silent_p.K5246K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5246	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACTGTAAGAACACCCGTG	0.388																																																	0													146	134	138					1																	186141187		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15738G>A	1.37:g.186141187G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K5246	ENST00000271588.4	37	c.15738	CCDS30956.1	1																																																																																			HMCN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186141187	1	no_errors	ENST00000271588	ensembl	human	known	70_37	silent	SNP	1.000	A	A	186141187	G	A	186141187	2	1	40	1	0	0	0	0	0	0	0	1	7240	933	33	1		1	HMCN1	1	186141187	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	133342745	186141187	63109434	5	5641										
PHLDA3	23612	genome.wustl.edu	37	chr1	201437540	201437540	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cgcccggtggtttaggacacGagggtcccggtcccgaggct	16	13	0	0	rs201117567		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:201437540G>C	ENST00000367311.3	-	1	772	c.375C>G	c.(373-375)ctC>ctG	p.L125L	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Silent_p.L125L	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	125	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TTTAGGACACGAGGGTCCCGG	0.647																																																	0													54	62	59					1																	201437540		2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"pleckstrin homology-like domain, family A, member 2"	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.375C>G	1.37:g.201437540G>C			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.L125	ENST00000367311.3	37	c.375	CCDS1412.1	1																																																																																			PHLDA3	-	NULL		0.647	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437540	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	0.805	C	C	201437540	G	C	201437540	2	2	40	1	0	0	0	0	0	0	0	1	11874	1045	37	1		1	PHLDA3	1	201437540	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	15296353	201437540	47813081	6	5642										
LMOD1	25802	genome.wustl.edu	37	chr1	201868709	201868709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctgcctttgctcctgcagccGcttttgtctctgcttgtcca	8	15	1	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:201868709G>A	ENST00000367288.4	-	2	1678	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	478					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTGCAGCCGCTTTTGTCTC	0.592																																																	0													33	36	35					1																	201868709		2008	4160	6168	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1432C>T	1.37:g.201868709G>A	ENSP00000356257:p.Arg478Trp		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R478W	ENST00000367288.4	37	c.1432	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661475	0.67700	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.26660	1.72	4.51	2.46	0.29980	.	0.000000	0.36268	N	0.002681	T	0.51007	0.1649	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58002	-0.7713	10	0.87932	D	0	-21.7722	11.6904	0.51512	0.0:0.0:0.6887:0.3113	.	427;478	B4E3S9;P29536	.;LMOD1_HUMAN	W	478;478;427	ENSP00000356257:R478W	ENSP00000356257:R478W	R	-	1	2	LMOD1	200135332	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	5.362000	0.66098	0.975000	0.38392	0.650000	0.86243	CGG	LMOD1	-	NULL		0.592	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	G			201868709	-1	no_errors	ENST00000367288	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201868709	G	A	201868709	3	1	40	1	0	0	0	0	1	0	0	0	8877	1086	38	2	378	2	LMOD1	1	201868709	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	431169	201868709	47381912	7	5643										
SPATA17	128153	genome.wustl.edu	37	chr1	217824495	217824495	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gtggagaagtttcttaggcaGaaagcaatatcaactaactg	10	6	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:217824495G>A	ENST00000366933.4	+	3	270	c.215G>A	c.(214-216)aGa>aAa	p.R72K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	72	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTAGGCAGAAAGCAATAT	0.289																																																	0													83	93	89					1																	217824495		2203	4290	6493	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.215G>A	1.37:g.217824495G>A	ENSP00000355900:p.Arg72Lys		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R72K	ENST00000366933.4	37	c.215	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973325	0.74246	.	.	ENSG00000162814	ENST00000366933	T	0.63913	-0.07	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.75447	2.3	0.39035	D	0.960018	D	0.89917	1.0	D	0.91635	0.999	T	0.81457	-0.0924	10	0.56958	D	0.05	-14.4651	15.1735	0.72894	0.0:0.0:1.0:0.0	.	72	Q96L03	SPT17_HUMAN	K	72	ENSP00000355900:R72K	ENSP00000355900:R72K	R	+	2	0	SPATA17	215891118	1.000000	0.71417	0.997000	0.53966	0.614000	0.37383	3.702000	0.54800	2.427000	0.82271	0.650000	0.86243	AGA	SPATA17	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	G	NM_138796		217824495	1	no_errors	ENST00000366933	ensembl	human	known	70_37	missense	SNP	1.000	A	A	217824495	G	A	217824495	3	1	40	1	0	0	0	0	1	0	0	0	15032	942	33	1	225	1	SPATA17	1	217824495	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	15955786	217824495	31426126	8	5644										
OBSCN	84033	genome.wustl.edu	37	chr1	228461703	228461703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctggacagcgccatctacagCtgccgtgtgggcgcagaggg	16	12	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:228461703C>A	ENST00000422127.1	+	18	5414	c.5370C>A	c.(5368-5370)agC>agA	p.S1790R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.S2165R|OBSCN_ENST00000359599.6_Missense_Mutation_p.S637R|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1790R|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1790	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCATCTACAGCTGCCGTGTGG	0.677																																																	0													18	22	21					1																	228461703		2093	4203	6296	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5370C>A	1.37:g.228461703C>A	ENSP00000409493:p.Ser1790Arg		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S1790R	ENST00000422127.1	37	c.5370	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489562	0.44249	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.76578	-1.03;-1.03;-1.03	5.38	3.52	0.40303	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.231777	0.36591	N	0.002508	T	0.69260	0.3091	L	0.33753	1.03	0.80722	D	1	D;P	0.54397	0.966;0.944	P;P	0.51615	0.617;0.675	T	0.64011	-0.6507	10	0.10111	T	0.7	.	6.7486	0.23475	0.1417:0.7093:0.0:0.1491	.	1790;1790	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1790;1790;637	ENSP00000284548:S1790R;ENSP00000409493:S1790R;ENSP00000352613:S637R	ENSP00000284548:S1790R	S	+	3	2	OBSCN	226528326	0.282000	0.24268	0.998000	0.56505	0.018000	0.09664	-0.049000	0.11924	0.668000	0.31126	-0.263000	0.10527	AGC	OBSCN	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228461703	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.999	A	A	228461703	C	A	228461703	3	1	40	1	0	0	0	0	1	0	0	0	10836	796	28	4	5436	4	OBSCN	1	228461703	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	10637208	228461703	20788918	9	5645										
PCNXL2	80003	genome.wustl.edu	37	chr1	233431150	233431150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttggtgaacttgctctgctcCgggtcgtggtaccagccccc	12	14	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:233431150C>T	ENST00000258229.9	-	1	309	c.75G>A	c.(73-75)ccG>ccA	p.P25P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	25						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTCTGCTCCGGGTCGTGGT	0.706																																																	0													16	21	19					1																	233431150		2147	4205	6352	SO:0001819	synonymous_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.75G>A	1.37:g.233431150C>T			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.P25	ENST00000258229.9	37	c.75	CCDS44335.1	1																																																																																			PCNXL2	-	NULL		0.706	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233431150	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	silent	SNP	0.084	T	T	233431150	C	T	233431150	2	4	40	1	0	0	0	0	0	0	0	1	11616	639	23	2		2	PCNXL2	1	233431150	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	4969447	233431150	15819471	10	5646										
OR2T27	403239	genome.wustl.edu	37	chr1	248813749	248813749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	accctcccagccaggctgccGccacaatcaaccagcagatc	7	19	1	1	rs151135924	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:248813749G>A	ENST00000344889.3	-	1	436	c.437C>T	c.(436-438)gCg>gTg	p.A146V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A146E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGCTGCCGCCACAATCAA	0.557													G|||	242	0.0483227	0.146	0.0346	5008	,	,		22556	0.001		0.0199	False		,,,				2504	0.0041																1	Substitution - Missense(1)	lung(1)						A	VAL/ALA	610,3782		32,546,1618	52	39	43		437	-1.8	0.1	1	dbSNP_134	43	128,8364		0,128,4118	no	missense	OR2T27	NM_001001824.1	64	32,674,5736	AA,AG,GG		1.5073,13.8889,5.728	benign	146/318	248813749	738,12146	2196	4246	6442	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.437C>T	1.37:g.248813749G>A	ENSP00000342008:p.Ala146Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A146V	ENST00000344889.3	37	c.437	CCDS31124.1	1	103	0.04716117216117216	77	0.1565040650406504	10	0.027624309392265192	2	0.0034965034965034965	14	0.018469656992084433	.	1.086	-0.665498	0.03428	0.138889	0.015073	ENSG00000187701	ENST00000344889	T	0.38077	1.16	3.3	-1.81	0.07882	GPCR, rhodopsin-like superfamily (1);	1.680850	0.03711	N	0.250303	T	0.00109	0.0003	N	0.26130	0.795	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.15122	-1.0448	10	0.22706	T	0.39	.	8.5008	0.33156	0.58:0.0:0.42:0.0	.	146	Q8NH04	O2T27_HUMAN	V	146	ENSP00000342008:A146V	ENSP00000342008:A146V	A	-	2	0	OR2T27	246880372	0.000000	0.05858	0.075000	0.20258	0.051000	0.14879	-1.413000	0.02473	-0.181000	0.10619	-1.031000	0.02408	GCG	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	G	NM_001001824		248813749	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.000	A	A	248813749	G	A	248813749	3	1	40	1	0	0	0	0	1	0	0	0	11045	1087	38	2	519	2	OR2T27	1	248813749	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	15382599	248813749	436872	11	5647										
CLEC4F	165530	genome.wustl.edu	37	chr2	71043160	71043160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agctgttcctgtgaagtaatGaccacatggagggtcttcag	12	8	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:71043160G>A	ENST00000272367.2	-	4	1429	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	CLEC4F_ENST00000426626.1_Silent_p.V451V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	451					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTGAAGTAATGACCACATGGA	0.522																																					Colon(107;10 2157 6841 26035)												0													138	129	132					2																	71043160		2203	4300	6503	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1353C>T	2.37:g.71043160G>A			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V451	ENST00000272367.2	37	c.1353	CCDS1910.1	2																																																																																			CLEC4F	-	NULL		0.522	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	G	NM_173535		71043160	-1	no_errors	ENST00000272367	ensembl	human	known	70_37	silent	SNP	0.000	A	A	71043160	G	A	71043160	2	1	40	1	0	0	0	0	0	0	0	1	3521	1277	45	1		1	CLEC4F	2	71043160	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		71043160	172156213	12	5648										
NPAS2	4862	genome.wustl.edu	37	chr2	101607315	101607315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggcagccctcggaagtcagcAggacgggacggcaagtcaag	16	11	2	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:101607315A>G	ENST00000335681.5	+	19	2377	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.R763G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	698					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGTCAGCAGGACGGGACG	0.637																																																	0													70	63	65					2																	101607315		2203	4300	6503	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2092A>G	2.37:g.101607315A>G	ENSP00000338283:p.Arg698Gly		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS	p.R763G	ENST00000335681.5	37	c.2287	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.833|9.833	1.189031|1.189031	0.21954|0.21954	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000433408|ENST00000335681;ENST00000542504	.|T;T	.|0.04758	.|3.58;3.56	4.63|4.63	3.29|3.29	0.37713|0.37713	.|.	.|1.567330	.|0.03332	.|N	.|0.193583	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.13043|0.13043	0.29|0.29	0.24690|0.24690	N|N	0.993319|0.993319	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.29671|0.29671	-1.0004|-1.0004	5|10	.|0.25106	.|T	.|0.35	.|.	6.2731|6.2731	0.20965|0.20965	0.7871:0.0:0.2129:0.0|0.7871:0.0:0.2129:0.0	.|.	.|763;698	.|F5H027;Q99743	.|.;NPAS2_HUMAN	R|G	196|698;763	.|ENSP00000338283:R698G;ENSP00000438428:R763G	.|ENSP00000338283:R698G	Q|R	+|+	2|1	0|2	NPAS2|NPAS2	100973747|100973747	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	1.265000|1.265000	0.33027|0.33027	1.848000|1.848000	0.53677|0.53677	0.379000|0.379000	0.24179|0.24179	CAG|AGG	NPAS2	-	NULL		0.637	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	A			101607315	1	no_errors	ENST00000542504	ensembl	human	known	70_37	missense	SNP	0.589	G	G	101607315	A	G	101607315	3	3	40	1	0	0	0	0	1	0	0	0	10587	179	7	5	2162	5	NPAS2	2	101607315	Missense_Mutation	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	30564155	101607315	141592058	13	5649										
ACVR2A	92	genome.wustl.edu	37	chr2	148674878	148674878	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cagtcatggcaaaatgaataCgaagtctacagtttgcctgg	10	8	2	1	rs192559024		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:148674878C>G	ENST00000241416.7	+	6	1335	c.699C>G	c.(697-699)taC>taG	p.Y233*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y233*|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y125*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAAATGAATACGAAGTCTACA	0.378																																																	0													90	77	81					2																	148674878		2202	4300	6502	SO:0001587	stop_gained	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.699C>G	2.37:g.148674878C>G	ENSP00000241416:p.Tyr233*		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.Y233*	ENST00000241416.7	37	c.699	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.773312	0.98948	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.68	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9588	0.14056	0.125:0.2087:0.0:0.6663	.	.	.	.	X	233;125;233	.	ENSP00000241416:Y233X	Y	+	3	2	ACVR2A	148391348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.676000	0.25247	0.450000	0.26774	-0.238000	0.12139	TAC	ACVR2A	-	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		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	C	NM_001616		148674878	1	no_errors	ENST00000241416	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	148674878	C	G	148674878	4	3	40	1	0	0	0	0	0	1	0	0	223	547	19	2	721	2	ACVR2A	2	148674878	Nonsense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	47067563	148674878	94524495	14	5650										
GRB14	2888	genome.wustl.edu	37	chr2	165365356	165365356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gctgaaaaactgcaaatgccGcggttccttaaaaaaaaaag	8	8	0	1	rs570762396		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:165365356G>A	ENST00000263915.3	-	7	1361	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	GRB14_ENST00000543549.1_Missense_Mutation_p.R188W	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCAAATGCCGCGGTTCCTTA	0.323																																																	0													83	84	84					2																	165365356		2203	4300	6503	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.823C>T	2.37:g.165365356G>A	ENSP00000263915:p.Arg275Trp		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.R275W	ENST00000263915.3	37	c.823	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183321	0.57800	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.76968	-1.06;-1.06;-1.06	5.93	4.04	0.47022	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.050448	0.85682	D	0.000000	D	0.86020	0.5833	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.91635	0.878;0.999	D	0.86694	0.1925	10	0.87932	D	0	-14.6148	9.0268	0.36234	0.076:0.0:0.7006:0.2234	.	188;275	B7Z7F9;Q14449	.;GRB14_HUMAN	W	275;188;230	ENSP00000263915:R275W;ENSP00000443699:R188W;ENSP00000416786:R230W	ENSP00000263915:R275W	R	-	1	2	GRB14	165073602	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	4.199000	0.58426	1.516000	0.48900	0.650000	0.86243	CGG	GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.323	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	G			165365356	-1	no_errors	ENST00000263915	ensembl	human	known	70_37	missense	SNP	0.996	A	A	165365356	G	A	165365356	3	1	40	1	0	0	0	0	1	0	0	0	6777	1086	38	2	831	2	GRB14	2	165365356	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	16690478	165365356	77834017	15	5651										
MDH1B	130752	genome.wustl.edu	37	chr2	207613788	207613788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	caatctccccaggtggtgagCcatggtaccagtatttcagt	10	11	2	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:207613788C>T	ENST00000374412.3	-	7	1447	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	MDH1B_ENST00000449792.1_Missense_Mutation_p.G293D|MDH1B_ENST00000392214.2_Missense_Mutation_p.G178D|MDH1B_ENST00000454776.2_Missense_Mutation_p.G391D	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	391					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGGTGGTGAGCCATGGTACCA	0.388																																					Pancreas(76;29 1355 28675 37177 51207)												0													133	115	121					2																	207613788		2203	4300	6503	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1172G>A	2.37:g.207613788C>T	ENSP00000363533:p.Gly391Asp		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.G391D	ENST00000374412.3	37	c.1172	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172729	0.21704	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.66099	-0.19;-0.19;-0.19;2.99	5.75	3.71	0.42584	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.337701	0.34156	N	0.004217	T	0.64416	0.2596	L	0.56769	1.78	0.34736	D	0.73028	B;B	0.32753	0.218;0.383	B;P	0.44921	0.25;0.464	T	0.73442	-0.3981	10	0.52906	T	0.07	-16.8201	8.8949	0.35458	0.0:0.726:0.0:0.274	.	391;391	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	D	391;293;391;178	ENSP00000363533:G391D;ENSP00000416577:G293D;ENSP00000389916:G391D;ENSP00000376049:G178D	ENSP00000363533:G391D	G	-	2	0	MDH1B	207322033	0.985000	0.35326	0.998000	0.56505	0.300000	0.27592	0.907000	0.28531	1.433000	0.47394	0.650000	0.86243	GGC	MDH1B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C		0.388	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207613788	-1	no_errors	ENST00000374412	ensembl	human	known	70_37	missense	SNP	0.995	T	T	207613788	C	T	207613788	3	4	40	1	0	0	0	0	1	0	0	0	9432	739	26	4	408	4	MDH1B	2	207613788	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	42248432	207613788	35585585	16	5652										
MYRIP	25924	genome.wustl.edu	37	chr3	40085724	40085724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tgctgctcctaccagaagcaCgaaaaggcctgggtctgctg	12	12	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:40085724C>T	ENST00000302541.6	+	3	636	c.294C>T	c.(292-294)caC>caT	p.H98H	MYRIP_ENST00000444716.1_Silent_p.H98H|MYRIP_ENST00000425621.1_Silent_p.H98H|MYRIP_ENST00000396217.3_Missense_Mutation_p.T55M	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	98	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGAAGCACGAAAAGGCCT	0.552																																																	0													79	71	73					3																	40085724		2203	4300	6503	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.294C>T	3.37:g.40085724C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin	p.T55M	ENST00000302541.6	37	c.164	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169616	0.38315	.	.	ENSG00000170011	ENST00000396217	T	0.23348	1.91	5.51	-11.0	0.00169	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23297	-1.0192	7	.	.	.	.	3.3998	0.07319	0.1522:0.0993:0.3132:0.4352	.	55	Q32M42	.	M	55	ENSP00000379519:T55M	.	T	+	2	0	MYRIP	40060728	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-0.460000	0.06720	-3.228000	0.00210	-0.251000	0.11542	ACG	MYRIP	-	NULL		0.552	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	C	NM_015460		40085724	1	no_errors	ENST00000396217	ensembl	human	known	70_37	missense	SNP	0.013	T	T	40085724	C	T	40085724	2	4	40	1	0	0	0	0	0	0	0	1	10123	535	19	2		2	MYRIP	3	40085724	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		40085724	157936706	17	5653										
LARS2	23395	genome.wustl.edu	37	chr3	45554648	45554648	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gagccttttcataagctgctGgcccaaggccttatcaaggg	11	11	2	0	rs145796540	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:45554648G>T	ENST00000415258.1	+	15	1923	c.1782G>T	c.(1780-1782)ctG>ctT	p.L594L	LARS2_ENST00000414984.1_Silent_p.L551L|LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Silent_p.L594L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	594					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATAAGCTGCTGGCCCAAGGCC	0.507																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	162	152	156		1782	1.4	1	3	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LARS2	NM_015340.3		0,3,6500	TT,TG,GG		0.0233,0.0227,0.0231		594/904	45554648	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1782G>T	3.37:g.45554648G>T				Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.L594	ENST00000415258.1	37	c.1782	CCDS2728.1	3																																																																																			LARS2	-	pfam_aa-tRNA-synth_Ia,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito		0.507	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	G	NM_015340		45554648	1	no_errors	ENST00000265537	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45554648	G	T	45554648	2	4	40	1	0	0	0	0	0	0	0	1	8655	1335	47	4		4	LARS2	3	45554648	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	5468924	45554648	152467782	18	5654										
ALS2CL	259173	genome.wustl.edu	37	chr3	46713023	46713023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tacaggcctcctgtgtggttGgggtccatcatgtcacggat	13	10	2	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:46713023G>A	ENST00000318962.4	-	25	2819	c.2736C>T	c.(2734-2736)ccC>ccT	p.P912P	ALS2CL_ENST00000415953.1_Silent_p.P912P|ALS2CL_ENST00000383742.3_Silent_p.P259P	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	912	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGTGGTTGGGGTCCATCA	0.612																																																	0													99	88	92					3																	46713023		2203	4300	6503	SO:0001819	synonymous_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2736C>T	3.37:g.46713023G>A			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.P912	ENST00000318962.4	37	c.2736	CCDS2743.1	3																																																																																			ALS2CL	-	pfam_VPS9,pfscan_VPS9		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46713023	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	silent	SNP	0.003	A	A	46713023	G	A	46713023	2	1	40	1	0	0	0	0	0	0	0	1	551	1335	47	4		4	ALS2CL	3	46713023	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	1158375	46713023	151309407	19	5655										
NISCH	11188	genome.wustl.edu	37	chr3	52521596	52521596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctggaatgggccctgggcgcGgacgaggacttcctgctgga	17	11	0	0	rs139671304	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:52521596G>A	ENST00000479054.1	+	17	2160	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	NISCH_ENST00000345716.4_Silent_p.A696A			Q9Y2I1	NISCH_HUMAN	nischarin	696	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCTGGGCGCGGACGAGGACT	0.647													G|||	2	0.000399361	8e-04	0	5008	,	,		18028	0		0.001	False		,,,				2504	0																0								G		0,4406		0,0,2203	67	56	59		2088	-10.6	0	3	dbSNP_134	59	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	NISCH	NM_007184.3		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		696/1505	52521596	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2088G>A	3.37:g.52521596G>A			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.A696	ENST00000479054.1	37	c.2088	CCDS33767.1	3																																																																																			NISCH	-	NULL		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52521596	1	no_errors	ENST00000345716	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52521596	G	A	52521596	2	1	40	1	0	0	0	0	0	0	0	1	10456	1103	39	2		2	NISCH	3	52521596	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	5808573	52521596	145500834	20	5656										
FEZF2	55079	genome.wustl.edu	37	chr3	62358300	62358300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cagtgtctttgacggcacctCgtagcctaggggctggaggg	16	10	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:62358300C>T	ENST00000283268.3	-	2	538	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FEZF2_ENST00000475839.1_Missense_Mutation_p.E82K|FEZF2_ENST00000486811.1_Missense_Mutation_p.E82K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	82					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GACGGCACCTCGTAGCCTAGG	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0													30	34	33					3																	62358300		2203	4300	6503	SO:0001583	missense	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.244G>A	3.37:g.62358300C>T	ENSP00000283268:p.Glu82Lys		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E82K	ENST00000283268.3	37	c.244	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395231	0.62066	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08984	3.03;3.03;3.03	5.1	5.1	0.69264	.	0.099870	0.64402	D	0.000001	T	0.08223	0.0205	L	0.50333	1.59	0.58432	D	0.999995	P	0.47545	0.897	B	0.24701	0.055	T	0.15954	-1.0419	10	0.72032	D	0.01	-15.3945	18.119	0.89565	0.0:1.0:0.0:0.0	.	82	Q8TBJ5	FEZF2_HUMAN	K	82	ENSP00000418589:E82K;ENSP00000283268:E82K;ENSP00000418804:E82K	ENSP00000283268:E82K	E	-	1	0	FEZF2	62333340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.399000	0.81585	0.555000	0.69702	GAG	FEZF2	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	C	NM_018008		62358300	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62358300	C	T	62358300	3	4	40	1	0	0	0	0	1	0	0	0	5844	893	31	1	1151	1	FEZF2	3	62358300	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	9836704	62358300	135664130	21	5657										
KTELC1	56983	genome.wustl.edu	37	chr3	119204198	119204198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agcagcacagtggccatggaAaaagaaaaactctacagcat	9	9	1	1	rs142565532	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:119204198A>G	ENST00000295588.4	+	6	686	c.602A>G	c.(601-603)aAa>aGa	p.K201R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	201					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGGCCATGGAAAAAGAAAAAC	0.299																																																	0								A	ARG/LYS	1,4405		0,1,2202	103	113	109		602	3	1	3	dbSNP_134	109	34,8566	22.8+/-68.1	0,34,4266	yes	missense	POGLUT1	NM_152305.2	26	0,35,6468	GG,GA,AA		0.3953,0.0227,0.2691	benign	201/393	119204198	35,12971	2203	4300	6503	SO:0001583	missense	56983			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.602A>G	3.37:g.119204198A>G	ENSP00000295588:p.Lys201Arg		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.K201R	ENST00000295588.4	37	c.602	CCDS2988.1	3	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523665	0.44866	2.27E-4	0.003953	ENSG00000163389	ENST00000295588	T	0.23754	1.89	5.32	2.96	0.34315	.	0.286130	0.38217	N	0.001774	T	0.24547	0.0595	M	0.69823	2.125	0.31079	N	0.71219	B	0.02656	0.0	B	0.09377	0.004	T	0.17107	-1.0380	10	0.29301	T	0.29	-0.2322	6.9076	0.24317	0.8168:0.0:0.1832:0.0	.	201	Q8NBL1	PGLT1_HUMAN	R	201	ENSP00000295588:K201R	ENSP00000295588:K201R	K	+	2	0	POGLUT1	120686888	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	1.680000	0.37607	0.428000	0.26173	0.533000	0.62120	AAA	POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.299	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2	A	NM_152305		119204198	1	no_errors	ENST00000295588	ensembl	human	known	70_37	missense	SNP	0.996	G	G	119204198	A	G	119204198	3	3	40	1	0	0	0	0	1	0	0	0	8603	14	1	5	624	5	KTELC1	3	119204198	Missense_Mutation	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	56845898	119204198	78818232	22	5658										
FAM194A	131831	genome.wustl.edu	37	chr3	150384694	150384694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttcaaagccagaaagacaggTttaaatgaaacaaagggtga	10	5	1	4			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:150384694T>C	ENST00000295910.6	-	13	1660	c.1608A>G	c.(1606-1608)aaA>aaG	p.K536K	FAM194A_ENST00000491361.1_Silent_p.K390K	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAAGACAGGTTTAAATGAAA	0.403																																																	0													142	139	140					3																	150384694		2203	4300	6503	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.1608A>G	3.37:g.150384694T>C				Silent	SNP	NULL	p.K536	ENST00000295910.6	37	c.1608	CCDS3151.2	3																																																																																			FAM194A	-	NULL		0.403	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	T			150384694	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	silent	SNP	0.998	C	C	150384694	T	C	150384694	2	2	40	1	0	0	0	0	0	0	0	1	5541	1722	60	5		5	FAM194A	3	150384694	Silent	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	31180496	150384694	47637736	23	5659										
C4orf23	152992	genome.wustl.edu	37	chr4	8469962	8469962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggaactgtgccgccctgccaCgagattttattgaccaagtg	11	11	0	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:8469962C>T	ENST00000389737.4	+	9	1816	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	TRMT44_ENST00000513449.2_Nonsense_Mutation_p.R365*	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	606					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CGCCCTGCCACGAGATTTTAT	0.502																																																	0													57	60	59					4																	8469962		2203	4300	6503	SO:0001587	stop_gained	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1816C>T	4.37:g.8469962C>T	ENSP00000374387:p.Arg606*		Q8NA95	Nonsense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.R606*	ENST00000389737.4	37	c.1816	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	C	31	5.103552	0.94245	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.83	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6602	12.7131	0.57100	0.4325:0.5675:0.0:0.0	.	.	.	.	X	365;606;214	.	ENSP00000285635:R214X	R	+	1	2	METTL19	8520862	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	2.110000	0.41873	0.611000	0.30052	-0.310000	0.09108	CGA	TRMT44	-	NULL		0.502	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	C	NM_152544		8469962	1	no_errors	ENST00000389737	ensembl	human	known	70_37	nonsense	SNP	0.723	T	T	8469962	C	T	8469962	4	4	40	1	0	0	0	0	0	1	0	0	2261	528	19	2	1850	2	C4orf23	4	8469962	Nonsense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		8469962	182684314	24	5660										
MEPE	56955	genome.wustl.edu	37	chr4	88759818	88759818	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gactgagaaaactaagcaaaGctgtgtggaagagcagaggg	15	5	0	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:88759818G>C	ENST00000424957.3	+	3	162	c.89G>C	c.(88-90)aGc>aCc	p.S30T	MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000511670.1_Missense_Mutation_p.S30T|MEPE_ENST00000395102.4_Missense_Mutation_p.S30T|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.S30T|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	30					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTAAGCAAAGCTGTGTGGAA	0.338																																																	0													132	134	133					4																	88759818		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.89G>C	4.37:g.88759818G>C	ENSP00000416984:p.Ser30Thr		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.S30T	ENST00000424957.3	37	c.89	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406283	0.25378	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000511670;ENST00000361056	T;T;T	0.21361	4.33;2.01;4.33	4.79	1.81	0.25067	.	0.701948	0.11823	N	0.525976	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	B	0.28233	0.204	B	0.23419	0.046	T	0.13388	-1.0511	10	0.62326	D	0.03	-5.6712	5.2195	0.15362	0.4729:0.0:0.5271:0.0	.	30	Q9NQ76	MEPE_HUMAN	T	30	ENSP00000416984:S30T;ENSP00000378534:S30T;ENSP00000354341:S30T	ENSP00000354341:S30T	S	+	2	0	MEPE	88978842	0.953000	0.32496	0.953000	0.39169	0.706000	0.40770	0.879000	0.28146	0.363000	0.24346	0.655000	0.94253	AGC	MEPE	-	NULL		0.338	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	G			88759818	1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.968	C	C	88759818	G	C	88759818	3	2	40	1	0	0	0	0	1	0	0	0	9501	971	34	4	95	4	MEPE	4	88759818	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	80289856	88759818	102394458	25	5661										
GLRA3	8001	genome.wustl.edu	37	chr4	175577900	175577900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gaaagtcaatttaccatatcTgagaaacggtaaaacttctc	6	8	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:175577900T>C	ENST00000274093.3	-	9	1612	c.1110A>G	c.(1108-1110)tcA>tcG	p.S370S	GLRA3_ENST00000340217.5_Intron	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	370					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTACCATATCTGAGAAACGGT	0.398																																																	0													80	76	77					4																	175577900		2203	4300	6503	SO:0001819	synonymous_variant	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1110A>G	4.37:g.175577900T>C			D3DP44|O75816|Q5D0E3	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.S370	ENST00000274093.3	37	c.1110	CCDS3822.1	4																																																																																			GLRA3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A3,tigrfam_Neur_channel		0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	T			175577900	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	silent	SNP	1.000	C	C	175577900	T	C	175577900	2	2	40	1	0	0	0	0	0	0	0	1	6475	1567	55	5		5	GLRA3	4	175577900	Silent	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	86818082	175577900	15576376	26	5662										
WDR17	116966	genome.wustl.edu	37	chr4	177046476	177046476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tacagtgcttagcctgggttCccagtgctcctgggatgttt	12	10	0	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:177046476C>T	ENST00000280190.4	+	6	988	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	WDR17_ENST00000507824.2_Missense_Mutation_p.P261S|WDR17_ENST00000393643.2_Missense_Mutation_p.P254S|WDR17_ENST00000508596.1_Missense_Mutation_p.P254S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	278										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCCTGGGTTCCCAGTGCTCC	0.403																																																	0													120	125	124					4																	177046476		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.832C>T	4.37:g.177046476C>T	ENSP00000280190:p.Pro278Ser		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P278S	ENST00000280190.4	37	c.832	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316493	0.60524	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60672	0.21;0.23;0.17	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.059241	0.64402	D	0.000002	T	0.59404	0.2191	M	0.73962	2.25	0.58432	D	0.999999	B;B	0.22746	0.074;0.074	B;B	0.23018	0.043;0.043	T	0.60999	-0.7151	10	0.66056	D	0.02	-6.1363	14.2485	0.66004	0.0:0.927:0.0:0.073	.	254;278	E7EQX0;Q8IZU2	.;WDR17_HUMAN	S	254;254;278;261	ENSP00000422763:P254S;ENSP00000377258:P254S;ENSP00000280190:P278S	ENSP00000280190:P278S	P	+	1	0	WDR17	177283470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.411000	0.52672	2.722000	0.93159	0.650000	0.86243	CCC	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046476	1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	177046476	C	T	177046476	3	4	40	1	0	0	0	0	1	0	0	0	17308	855	30	1	850	1	WDR17	4	177046476	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	1468576	177046476	14107800	27	5663										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33576974	33576974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttctttggaggctgtggtagGactagggctgctgattgctg	16	6	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:33576974G>C	ENST00000504830.1	-	19	3492	c.3157C>G	c.(3157-3159)Cct>Gct	p.P1053A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P968A|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1053	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGTGGTAGGACTAGGGCTG	0.557										HNSCC(64;0.19)																																							0													126	123	124					5																	33576974		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3157C>G	5.37:g.33576974G>C	ENSP00000422554:p.Pro1053Ala		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1053A	ENST00000504830.1	37	c.3157	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	4.828	0.153906	0.09185	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.21;0.18	5.08	2.87	0.33458	.	0.724118	0.13961	N	0.350835	T	0.45736	0.1357	L	0.32530	0.975	0.09310	N	1	B;B	0.26147	0.143;0.043	B;B	0.30572	0.117;0.04	T	0.39643	-0.9604	10	0.48119	T	0.1	.	7.4406	0.27181	0.3489:0.0:0.6511:0.0	.	968;1053	P58397-3;P58397	.;ATS12_HUMAN	A	1053;968	ENSP00000422554:P1053A;ENSP00000344847:P968A	ENSP00000344847:P968A	P	-	1	0	ADAMTS12	33612731	0.308000	0.24509	0.020000	0.16555	0.118000	0.20060	0.741000	0.26202	0.478000	0.27488	-0.136000	0.14681	CCT	ADAMTS12	-	NULL		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33576974	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.001	C	C	33576974	G	C	33576974	3	2	40	1	0	0	0	0	1	0	0	0	257	1174	41	1	1651	1	ADAMTS12	5	33576974	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		33576974	147338286	28	5664										
MAST4	375449	genome.wustl.edu	37	chr5	65892767	65892768	+	In_Frame_Ins	INS	-	-	GCC													0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gagcgcggagtccttgcgctINSgccgccgccgcttcccggag					rs200017963|rs200514960|rs373498382		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:65892767_65892768insGCC	ENST00000403625.2	+	1	579_580	c.284_285insGCC	c.(283-288)ctgccg>ctGCCgccg	p.98_99insP	MAST4_ENST00000406374.1_In_Frame_Ins_p.98_99insP|MAST4_ENST00000404260.3_In_Frame_Ins_p.98_99insP|MAST4_ENST00000406039.1_In_Frame_Ins_p.98_99insP	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	98						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTCCTTGCGCTGCCGCCGCCGC	0.792																																																	0									,	108,1168		44,20,574					,	-1.6	0.4			1	553,2289		231,91,1099	no	coding,coding	MAST4	NM_198828.2,NM_001164664.1	,	275,111,1673	A1A1,A1R,RR		19.4581,8.4639,16.0515	,	,		661,3457				SO:0001652	inframe_insertion	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.291_293dupGCC	5.37:g.65892774_65892776dupGCC	ENSP00000385727:p.Pro99_Pro100dup		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	In_Frame_Ins	INS	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.99in_frame_insP	ENST00000403625.2	37	c.284_285	CCDS54861.1	5																																																																																			MAST4	-	NULL		0.792	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	-			65892768	1	no_errors	ENST00000404260	ensembl	human	known	70_37	in_frame_ins	INS	0.152:0.543	GCC	GCC	65892768	-	GCC	65892767	7	5	40	1	0	1	1	0	0	0	0	0	9350	1580	55	0	286	0	MAST4	5	65892767	In_Frame_Ins	INS	-	TCGA-C5-A3HL-01A-11D-A20U-09	32315793	65892767	115022493	29	5665										
COL4A3BP	10087	genome.wustl.edu	37	chr5	74696108	74696108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gtaggccaatgtaatctcacCttttcactctgtgactaaaa	6	10	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:74696108C>T	ENST00000405807.4	-	10	1453	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	COL4A3BP_ENST00000261415.7_Silent_p.K344K|COL4A3BP_ENST00000380494.5_Silent_p.K472K	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	344					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTAATCTCACCTTTTCACTCT	0.363																																																	0													91	85	87					5																	74696108		2203	4300	6503	SO:0001819	synonymous_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1032G>A	5.37:g.74696108C>T			A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.K472	ENST00000405807.4	37	c.1416	CCDS4028.1	5																																																																																			COL4A3BP	-	NULL		0.363	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74696108	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74696108	C	T	74696108	2	4	40	1	0	0	0	0	0	0	0	1	3697	680	24	4		4	COL4A3BP	5	74696108	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	8803341	74696108	106219152	30	5666										
CMYA5	202333	genome.wustl.edu	37	chr5	79032785	79032785	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tggttctttcttgtcatgatGaaatagagaaccactctttg	8	7	4	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:79032785G>A	ENST00000446378.2	+	2	8228	c.8197G>A	c.(8197-8199)Gaa>Aaa	p.E2733K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2733					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGTCATGATGAAATAGAGAA	0.393																																																	0													50	49	49					5																	79032785		1834	4074	5908	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8197G>A	5.37:g.79032785G>A	ENSP00000394770:p.Glu2733Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2733K	ENST00000446378.2	37	c.8197	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444841	0.43429	.	.	ENSG00000164309	ENST00000446378	T	0.17691	2.26	4.09	3.2	0.36748	.	0.112589	0.40144	N	0.001170	T	0.17323	0.0416	L	0.46157	1.445	0.09310	N	1	P	0.37015	0.578	B	0.40199	0.322	T	0.08973	-1.0696	10	0.62326	D	0.03	.	9.1679	0.37063	0.1074:0.0:0.8926:0.0	.	2733	Q8N3K9	CMYA5_HUMAN	K	2733	ENSP00000394770:E2733K	ENSP00000394770:E2733K	E	+	1	0	CMYA5	79068541	0.017000	0.18338	0.019000	0.16419	0.199000	0.23934	0.938000	0.28965	0.861000	0.35504	0.478000	0.44815	GAA	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79032785	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.150	A	A	79032785	G	A	79032785	3	1	40	1	0	0	0	0	1	0	0	0	3595	1291	45	1	8203	1	CMYA5	5	79032785	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	4336677	79032785	101882475	31	5667										
PSD2	84249	genome.wustl.edu	37	chr5	139201535	139201535	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	caagagcgtgagcgggtcctCacacacttctcccgccggta	11	15	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:139201535C>T	ENST00000274710.3	+	6	1360	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	385	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGTCCTCACACACTTCT	0.592																																																	0													153	118	130					5																	139201535		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1155C>T	5.37:g.139201535C>T			D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L385	ENST00000274710.3	37	c.1155	CCDS4216.1	5																																																																																			PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	C	NM_032289		139201535	1	no_errors	ENST00000274710	ensembl	human	known	70_37	silent	SNP	0.000	T	T	139201535	C	T	139201535	2	4	40	1	0	0	0	0	0	0	0	1	12674	813	29	1		1	PSD2	5	139201535	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	60168750	139201535	41713725	32	5668										
PCDHA2	56146	genome.wustl.edu	37	chr5	140176634	140176634	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tcagaggctacgctggtggaTgtcaacgtgtacctgatcat	12	9	3	2	rs375001935		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:140176634T>G	ENST00000526136.1	+	1	2085	c.2085T>G	c.(2083-2085)gaT>gaG	p.D695E	PCDHA2_ENST00000378132.1_Missense_Mutation_p.D695E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D695E	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	695					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGATGTCAACGTGT	0.662																																																	0								T	,GLU/ASP,,GLU/ASP	0,4406		0,0,2203	82	82	82		,2085,,2085	-5	0.2	5		82	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,intron,missense	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,45,,45	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	,,,	,695/949,,695/825	140176634	2,13004	2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2085T>G	5.37:g.140176634T>G	ENSP00000431748:p.Asp695Glu		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D695E	ENST00000526136.1	37	c.2085	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	t	15.04	2.715109	0.48622	0.0	2.33E-4	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52754	0.73;0.65;0.7	3.96	-4.97	0.03029	.	0.376525	0.18456	U	0.140678	T	0.54743	0.1877	M	0.90145	3.09	0.09310	N	1	P;P;P	0.45212	0.853;0.654;0.853	P;B;P	0.49012	0.543;0.341;0.598	T	0.54193	-0.8330	10	0.62326	D	0.03	.	6.9017	0.24286	0.1049:0.5413:0.1066:0.2472	.	695;695;695	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	E	695	ENSP00000430584:D695E;ENSP00000367372:D695E;ENSP00000431748:D695E	ENSP00000367372:D695E	D	+	3	2	PCDHA2	140156818	0.000000	0.05858	0.161000	0.22692	0.620000	0.37586	-2.995000	0.00655	-0.961000	0.03609	-0.370000	0.07254	GAT	PCDHA2	-	NULL		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	T	NM_018905		140176634	1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.000	G	G	140176634	T	G	140176634	3	3	40	1	0	0	0	0	1	0	0	0	11548	1461	51	5	2087	5	PCDHA2	5	140176634	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	975099	140176634	40738626	33	5669										
PCDHGA10	56106	genome.wustl.edu	37	chr5	140792799	140792799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gattgcagcgggctggtcctGctctgccttttcttcgggat	13	11	2	0	rs374674787		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:140792799G>A	ENST00000398610.2	+	1	57	c.57G>A	c.(55-57)ctG>ctA	p.L19L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	19					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGTCCTGCTCTGCCTTT	0.512											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	,,,,,,,,,,,,,,,,	0,3778		0,0,1889	46	50	49		,,57,,,,,,,,,,,,,,57	2.7	0.3	5		49	2,8268		0,2,4133	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032090.1	,,,,,,,,,,,,,,,,	0,2,6022	AA,AG,GG		0.0242,0.0,0.0166	,,,,,,,,,,,,,,,,	,,19/937,,,,,,,,,,,,,,19/851	140792799	2,12046	1889	4135	6024	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.57G>A	5.37:g.140792799G>A		1659	Q9Y5E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L19	ENST00000398610.2	37	c.57	CCDS47292.1	5																																																																																			PCDHGA10	-	NULL		0.512	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	G	NM_018913		140792799	1	no_errors	ENST00000398610	ensembl	human	known	70_37	silent	SNP	0.709	A	A	140792799	G	A	140792799	2	1	40	1	0	0	0	0	0	0	0	1	11575	1306	46	4		4	PCDHGA10	5	140792799	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	616165	140792799	40122461	34	5670										
FGF1	2246	genome.wustl.edu	37	chr5	141993587	141993587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cggaaggatcctcaggaagtGgcccccgttgctacagtaga	13	11	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:141993587G>A	ENST00000359370.6	-	2	185	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	FGF1_ENST00000419524.2_Missense_Mutation_p.H36Y|FGF1_ENST00000360966.5_Missense_Mutation_p.H36Y|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000407758.1_Missense_Mutation_p.H36Y|FGF1_ENST00000337706.2_Missense_Mutation_p.H36Y|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000378046.1_Missense_Mutation_p.H36Y	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	36					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	CTCAGGAAGTGGCCCCCGTTG	0.552																																																	0													129	117	121					5																	141993587		2203	4300	6503	SO:0001583	missense	2246			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"Endogenous ligands"	3665	protein-coding gene	gene with protein product	"heparin-binding growth factor 1", "endothelial cell growth factor, alpha", "endothelial cell growth factor, beta"	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.106C>T	5.37:g.141993587G>A	ENSP00000352329:p.His36Tyr		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.H36Y	ENST00000359370.6	37	c.106	CCDS4275.1	5	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795003	0.31777	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000360966;ENST00000407758;ENST00000441680;ENST00000419524;ENST00000394496;ENST00000411960	T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.61	3.82	0.43975	.	0.211018	0.42682	N	0.000672	T	0.18257	0.0438	N	0.03154	-0.405	0.41915	D	0.990486	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.08055	0.0;0.001;0.001;0.003	T	0.06215	-1.0839	10	0.21014	T	0.42	.	9.0658	0.36462	0.2195:0.0:0.7805:0.0	.	36;36;36;36	Q16089;A8K147;P05230-2;P05230	.;.;.;FGF1_HUMAN	Y	36	ENSP00000352329:H36Y;ENSP00000367285:H36Y;ENSP00000338548:H36Y;ENSP00000354231:H36Y;ENSP00000383969:H36Y;ENSP00000404742:H36Y;ENSP00000396195:H36Y;ENSP00000378005:H36Y;ENSP00000399458:H36Y	ENSP00000338548:H36Y	H	-	1	0	FGF1	141973771	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.084000	0.41625	1.386000	0.46466	0.650000	0.86243	CAC	FGF1	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.552	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF1	HGNC	protein_coding	OTTHUMT00000132735.2	G	NM_000800		141993587	-1	no_errors	ENST00000337706	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141993587	G	A	141993587	3	1	40	1	0	0	0	0	1	0	0	0	5856	1348	47	4	373	4	FGF1	5	141993587	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	1200788	141993587	38921673	35	5671										
SPINK5	11005	genome.wustl.edu	37	chr5	147486700	147486700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agatggcaaaatgcatggaaAcaagtgtgccatgtgtgcca	12	7	0	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:147486700A>G	ENST00000256084.7	+	17	1622	c.1580A>G	c.(1579-1581)aAc>aGc	p.N527S	SPINK5_ENST00000359874.3_Missense_Mutation_p.N527S|SPINK5_ENST00000398454.1_Missense_Mutation_p.N527S	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	527	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATGGAAACAAGTGTGCC	0.498																																																	0													179	176	177					5																	147486700		2053	4194	6247	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1580A>G	5.37:g.147486700A>G	ENSP00000256084:p.Asn527Ser		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.N527S	ENST00000256084.7	37	c.1580	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562452	0.65538	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	4.81	4.81	0.61882	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.52532	D	0.000075	T	0.25195	0.0612	M	0.85099	2.735	0.27609	N	0.948733	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.76575	0.988;0.971;0.983;0.971	T	0.07424	-1.0773	10	0.39692	T	0.17	-28.1027	10.9434	0.47287	1.0:0.0:0.0:0.0	.	508;527;527;527	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	S	527;527;508;527	ENSP00000381472:N527S;ENSP00000352936:N527S;ENSP00000421519:N508S;ENSP00000256084:N527S	ENSP00000256084:N527S	N	+	2	0	SPINK5	147466893	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	2.984000	0.49353	2.164000	0.68074	0.459000	0.35465	AAC	SPINK5	-	pfam_Kazal-type_dom,smart_Prot_inh_Kazal		0.498	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	A	NM_001127698		147486700	1	no_errors	ENST00000359874	ensembl	human	known	70_37	missense	SNP	1.000	G	G	147486700	A	G	147486700	3	3	40	1	0	0	0	0	1	0	0	0	15092	43	2	5	1646	5	SPINK5	5	147486700	Missense_Mutation	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	5493113	147486700	33428560	36	5672										
GABRA6	2559	genome.wustl.edu	37	chr5	161128674	161128674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggcaccagtaaaatagaccaGtattctcgaattctcttccc	6	12	2	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:161128674G>A	ENST00000274545.5	+	9	1690	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	GABRA6_ENST00000523217.1_Silent_p.Q409Q			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	419					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAATAGACCAGTATTCTCGAA	0.468										TCGA Ovarian(5;0.080)																																							0													132	120	124					5																	161128674		2203	4300	6503	SO:0001819	synonymous_variant	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1257G>A	5.37:g.161128674G>A			A8K096|Q4VAV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Q419	ENST00000274545.5	37	c.1257	CCDS4356.1	5																																																																																			GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt		0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	G			161128674	1	no_errors	ENST00000274545	ensembl	human	known	70_37	silent	SNP	1.000	A	A	161128674	G	A	161128674	2	1	40	1	0	0	0	0	0	0	0	1	6183	1020	36	4		4	GABRA6	5	161128674	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	13641974	161128674	19786586	37	5673										
HLA-A	3105	genome.wustl.edu	37	chr6	29912108	29912108	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctgtggtggtgccttctggaGaggagcagagatacacctgc	15	9	1	2	rs2231095	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:29912108G>C	ENST00000396634.1	+	6	1170	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	HLA-A_ENST00000376802.2_Missense_Mutation_p.E277Q|HLA-A_ENST00000376806.5_Missense_Mutation_p.E277Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.E277Q			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	277	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCTTCTGGAGAGGAGCAGAG	0.617									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	2247	0.448682	0.5129	0.4856	5008	,	,		18227	0.4167		0.4344	False		,,,				2504	0.3834																0													41	38	39					6																	29912108		1511	2707	4218	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.829G>C	6.37:g.29912108G>C	ENSP00000379873:p.Glu277Gln		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E277Q	ENST00000396634.1	37	c.829	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	1.666	-0.510311	0.04231	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	3.69	-1.97	0.07503	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.573958	0.13893	U	0.355507	T	0.01695	0.0054	.	.	.	0.53688	P	2.199999999996649E-5	P;B;B;B;B;B;B	0.43633	0.813;0.0;0.041;0.0;0.134;0.0;0.0	P;B;B;B;B;B;B	0.58520	0.84;0.002;0.12;0.002;0.12;0.004;0.001	T	0.36383	-0.9750	8	0.09843	T	0.71	.	7.9497	0.30008	0.103:0.4273:0.4697:0.0	rs2231095;rs9260183;rs16896035;rs41547214	156;277;277;277;277;277;277	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	Q	277;277;65;277;277	ENSP00000379873:E277Q;ENSP00000366002:E277Q;ENSP00000366005:E277Q;ENSP00000365998:E277Q	ENSP00000365998:E277Q	E	+	1	0	HLA-A	30020087	0.001000	0.12720	0.962000	0.40283	0.439000	0.31926	0.112000	0.15479	-0.204000	0.10235	-3.416000	0.00038	GAG	HLA-A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.617	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29912108	1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.846	C	C	29912108	G	C	29912108	3	2	40	1	0	0	0	0	1	0	0	0	7215	943	33	1	843	1	HLA-A	6	29912108	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		29912108	141202959	38	5674										
PAQR8	85315	genome.wustl.edu	37	chr6	52268056	52268056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctgagcaccctgtcggtcagCgggcagcagctgcgccgcct	14	16	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:52268056C>T	ENST00000442253.2	+	2	219	c.45C>T	c.(43-45)agC>agT	p.S15S	PAQR8_ENST00000360726.3_Silent_p.S15S	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	15					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGTCGGTCAGCGGGCAGCAGC	0.667																																																	0													30	29	29					6																	52268056		2200	4300	6500	SO:0001819	synonymous_variant	85315			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.45C>T	6.37:g.52268056C>T			B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.S15	ENST00000442253.2	37	c.45	CCDS4941.1	6																																																																																			PAQR8	-	NULL		0.667	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	HGNC	protein_coding	OTTHUMT00000040903.2	C	NM_133367		52268056	1	no_errors	ENST00000360726	ensembl	human	known	70_37	silent	SNP	0.850	T	T	52268056	C	T	52268056	2	4	40	1	0	0	0	0	0	0	0	1	11465	767	27	2		2	PAQR8	6	52268056	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	22355948	52268056	118847011	39	5675										
SFRS13B	135295	genome.wustl.edu	37	chr6	89808634	89808634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	atgatttggaacgagatttaGactggctataagaaaatcgc	10	5	0	4			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:89808634G>C	ENST00000452027.2	-	5	642	c.449C>G	c.(448-450)tCt>tGt	p.S150C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	150	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACGAGATTTAGACTGGCTATA	0.418																																																	0													159	152	154					6																	89808634		1861	4094	5955	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.449C>G	6.37:g.89808634G>C	ENSP00000414302:p.Ser150Cys		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S150C	ENST00000452027.2	37	c.449	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526537	0.64860	.	.	ENSG00000154548	ENST00000452027	T	0.10668	2.85	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	T	0.18593	0.0446	L	0.44542	1.39	0.42452	D	0.992755	D	0.76494	0.999	D	0.74674	0.984	T	0.00589	-1.1656	10	0.62326	D	0.03	.	17.3944	0.87441	0.0:0.0:1.0:0.0	.	150	Q8WXF0	SRS12_HUMAN	C	150	ENSP00000414302:S150C	ENSP00000414302:S150C	S	-	2	0	SRSF12	89865353	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.836000	0.55813	2.719000	0.93026	0.585000	0.79938	TCT	SRSF12	-	NULL		0.418	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	G	NM_080743		89808634	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89808634	G	C	89808634	3	2	40	1	0	0	0	0	1	0	0	0	14199	942	33	1	340	1	SFRS13B	6	89808634	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	37540578	89808634	81306433	40	5676										
AIM1	202	genome.wustl.edu	37	chr6	106992727	106992727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tggatccaaaggttccagtaTtgatgtattgggaattgttg	12	4	0	1	rs374976583		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:106992727T>C	ENST00000369066.3	+	11	4494	c.4007T>C	c.(4006-4008)aTt>aCt	p.I1336T	AIM1_ENST00000535438.1_Missense_Mutation_p.I155T|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTTCCAGTATTGATGTATTG	0.333																																																	0								T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	122	124	123		4007	5.7	1	6		123	0,8600		0,0,4300	no	missense	AIM1	NM_001624.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	1336/1724	106992727	1,13005	2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4007T>C	6.37:g.106992727T>C	ENSP00000358062:p.Ile1336Thr		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.I1336T	ENST00000369066.3	37	c.4007	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275560	0.59649	2.27E-4	0.0	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.76578	-1.03;-1.03;-1.03	5.72	5.72	0.89469	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.479160	0.25912	N	0.027483	T	0.73830	0.3637	M	0.64170	1.965	0.52501	D	0.999951	P;B	0.42456	0.78;0.382	P;B	0.45232	0.474;0.18	T	0.78971	-0.1993	10	0.72032	D	0.01	.	15.6546	0.77124	0.0:0.0:0.0:1.0	.	155;1336	B4DU04;Q9Y4K1	.;AIM1_HUMAN	T	1336;155;155	ENSP00000358062:I1336T;ENSP00000391419:I155T;ENSP00000439183:I155T	ENSP00000358062:I1336T	I	+	2	0	AIM1	107099420	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.157000	0.58144	2.183000	0.69458	0.459000	0.35465	ATT	AIM1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	T			106992727	1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	1.000	C	C	106992727	T	C	106992727	3	2	40	1	0	0	0	0	1	0	0	0	430	1493	52	5	4049	5	AIM1	6	106992727	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	17184093	106992727	64122340	41	5677										
LFNG	3955	genome.wustl.edu	37	chr7	2552881	2552882	+	Frame_Shift_Ins	INS	-	-	GATG													0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gatggacggacagatggacaINSgatggatggatggatggatg					rs34637446|rs61564232|rs397694506|rs373004749		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:2552881_2552882insGATG	ENST00000402506.1	+	2	264_265	c.138_139insGATG	c.(139-141)gatfs	p.-48fs		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase						compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		acagatggacagatggatggat	0.564																																																	0																																										SO:0001589	frameshift_variant	3955			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.163_166dupGATG	7.37:g.2552886_2552889dupGATG	ENSP00000385764:p.Gly48fs		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Frame_Shift_Ins	INS	pfam_Fringe-like	p.M50fs	ENST00000402506.1	37	c.138_139	CCDS55081.1	7																																																																																			LFNG	-	NULL		0.564	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325023.1	-	NM_002304		2552882	1	no_errors	ENST00000402506	ensembl	human	putative	70_37	frame_shift_ins	INS	0.003:0.004	GATG	GATG	2552882	-	GATG	2552881	7	5	40	1	0	1	1	0	0	0	0	0	8757	175	7	0	144	0	LFNG	7	2552881	Frame_Shift_Ins	INS	-	TCGA-C5-A3HL-01A-11D-A20U-09		2552881	156585782	42	5678										
HGF	3082	genome.wustl.edu	37	chr7	81374376	81374376	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cccagcgctgacaaatcttgCctgattctgtatgatccatg	8	12	2	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:81374376C>G	ENST00000222390.5	-	6	912	c.686G>C	c.(685-687)gGc>gCc	p.G229A	HGF_ENST00000444829.2_Missense_Mutation_p.G229A|HGF_ENST00000457544.2_Missense_Mutation_p.G224A|HGF_ENST00000453411.1_Missense_Mutation_p.G224A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	229	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACAAATCTTGCCTGATTCTGT	0.388																																																	0													91	86	88					7																	81374376		2203	4300	6503	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.686G>C	7.37:g.81374376C>G	ENSP00000222390:p.Gly229Ala		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G229A	ENST00000222390.5	37	c.686	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601990	0.87055	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.73	4.73	0.59995	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98965	4.385	0.80722	D	1	P;D;B;D	0.71674	0.857;0.998;0.303;0.974	B;P;B;P	0.59948	0.254;0.866;0.053;0.727	D	0.96127	0.9089	10	0.87932	D	0	.	18.2555	0.90019	0.0:1.0:0.0:0.0	.	224;229;224;229	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	A	229;224;229;224;229	ENSP00000222390:G229A;ENSP00000391238:G224A;ENSP00000389854:G229A;ENSP00000408270:G224A	ENSP00000222390:G229A	G	-	2	0	HGF	81212312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.940000	0.75917	2.609000	0.88269	0.655000	0.94253	GGC	HGF	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.388	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81374376	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81374376	C	G	81374376	3	3	40	1	0	0	0	0	1	0	0	0	7105	739	26	4	1564	4	HGF	7	81374376	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	78821495	81374376	77764287	43	5679										
FLNC	2318	genome.wustl.edu	37	chr7	128498544	128498544	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	aagtggggtgacgaaagtgtCcctggaagccccttcaaagt	13	9	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:128498544C>T	ENST00000325888.8	+	48	8406	c.8145C>T	c.(8143-8145)gtC>gtT	p.V2715V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V2682V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2715	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACGAAAGTGTCCCTGGAAGCC	0.537																																																	0													83	98	93					7																	128498544		2027	4184	6211	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.8145C>T	7.37:g.128498544C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V2715	ENST00000325888.8	37	c.8145	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.537	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128498544	1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128498544	C	T	128498544	2	4	40	1	0	0	0	0	0	0	0	1	5953	842	30	1		1	FLNC	7	128498544	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	47124168	128498544	30640119	44	5680										
MLL3	58508	genome.wustl.edu	37	chr7	151864248	151864248	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tacctgttctagctgtttctGaaccatgctttgctgttcag	8	10	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:151864248G>A	ENST00000262189.6	-	42	9951	c.9733C>T	c.(9733-9735)Cag>Tag	p.Q3245*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3245*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3245	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGCTGTTTCTGAACCATGCTT	0.388																																																	0													125	106	113					7																	151864248		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9733C>T	7.37:g.151864248G>A	ENSP00000262189:p.Gln3245*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3245*	ENST00000262189.6	37	c.9733	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.407763|20.407763	0.99930|0.99930	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.44285|.	D|.	0.000480|.	.|T	.|0.76471	.|0.3992	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74377	.|-0.3685	.|4	0.87932|.	D|.	0|.	.|.	19.8183|19.8183	0.96579|0.96579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3245|750	.|.	ENSP00000262189:Q3245X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151495181|151495181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.813000|9.813000	0.99286|0.99286	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	CAG|TCA	MLL3	-	NULL		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151864248	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151864248	G	A	151864248	4	1	40	1	0	0	0	0	0	1	0	0	9645	1299	45	1	5074	1	MLL3	7	151864248	Nonsense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	23365704	151864248	7274415	45	5681										
MYOM2	9172	genome.wustl.edu	37	chr8	2054351	2054351	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ccgtgtctgtaagtgatacaGacggagtgtcctccagtttt	11	9	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:2054351G>A	ENST00000262113.4	+	23	3103	c.2962G>A	c.(2962-2964)Gac>Aac	p.D988N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D413N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	988	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGTGATACAGACGGAGTGTC	0.418																																																	0													102	99	100					8																	2054351		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2962G>A	8.37:g.2054351G>A	ENSP00000262113:p.Asp988Asn		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D988N	ENST00000262113.4	37	c.2962	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767075	0.69878	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.40476	1.03;1.03	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110885	0.64402	D	0.000005	T	0.52484	0.1737	M	0.83223	2.63	0.58432	D	0.999998	P	0.47841	0.901	B	0.41946	0.371	T	0.64228	-0.6457	10	0.66056	D	0.02	.	18.9834	0.92763	0.0:0.0:1.0:0.0	.	988	P54296	MYOM2_HUMAN	N	988;413	ENSP00000262113:D988N;ENSP00000428396:D413N	ENSP00000262113:D988N	D	+	1	0	MYOM2	2041758	1.000000	0.71417	0.136000	0.22124	0.016000	0.09150	7.604000	0.82830	2.476000	0.83614	0.643000	0.83706	GAC	MYOM2	-	smart_Ig_sub,pfscan_Ig-like		0.418	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	G	NM_003970		2054351	1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2054351	G	A	2054351	3	1	40	1	0	0	0	0	1	0	0	0	10115	942	33	1	3048	1	MYOM2	8	2054351	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		2054351	144309671	46	5682										
SLC7A2	6542	genome.wustl.edu	37	chr8	17396334	17396334	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ccacgaaactagcaactggaAtgaagatagaaacaagtggt	10	7	0	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:17396334A>G	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Start_Codon_SNP_p.M1V|SLC7A2_ENST00000004531.10_Start_Codon_SNP_p.M1V|SLC7A2_ENST00000398090.3_Start_Codon_SNP_p.M1V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAACTGGAATGAAGATAGA	0.398																																																	0													81	77	78					8																	17396334		1874	4106	5980	SO:0001627	intron_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4493A>G	8.37:g.17396334A>G			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease_dom,tigrfam_Cat_AA_permease	p.M1V	ENST00000494857.1	37	c.1	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	A	8.466	0.856349	0.17106	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.87179	-2.22;-2.08;-2.22	3.46	1.03	0.20045	.	.	.	.	.	T	0.78935	0.4362	.	.	.	0.23346	N	0.997863	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67875	-0.5557	8	0.87932	D	0	.	5.3376	0.15967	0.756:0.0:0.244:0.0	.	1;1	P52569-3;P52569-2	.;.	V	1	ENSP00000419873:M1V;ENSP00000004531:M1V;ENSP00000381164:M1V	ENSP00000004531:M1V	M	+	1	0	SLC7A2	17440713	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.021000	0.13489	0.218000	0.20820	-0.609000	0.04063	ATG	SLC7A2	-	NULL		0.398	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	A	NM_003046		17396334	1	no_errors	ENST00000004531	ensembl	human	known	70_37	missense	SNP	0.001	G	G	17396334	A	G	17396334	1	3	40	0	1	0	0	0	0	0	0	0	14727	101	4	5		5	SLC7A2	8	17396334	Intron	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	15341983	17396334	128967688	47	5683										
RHOBTB2	23221	genome.wustl.edu	37	chr8	22862930	22862930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tagatgatgtcagcgtctctCtgcgcctctgggacaccttt	10	12	4	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:22862930C>T	ENST00000251822.6	+	3	775	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Silent_p.L102L|RHOBTB2_ENST00000522948.1_Silent_p.L87L|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	80	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCGTCTCTCTGCGCCTCTG	0.602																																																	0													109	99	103					8																	22862930		2203	4300	6503	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.238C>T	8.37:g.22862930C>T			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.L80	ENST00000251822.6	37	c.238	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.602	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	C			22862930	1	no_errors	ENST00000251822	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22862930	C	T	22862930	2	4	40	1	0	0	0	0	0	0	0	1	13364	912	32	1		1	RHOBTB2	8	22862930	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	5466596	22862930	123501092	48	5684										
OSGIN2	734	genome.wustl.edu	37	chr8	90937187	90937187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tctgggcttactgccgctgaCgcagtactgtgtgcttacaa	11	11	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:90937187C>T	ENST00000297438.2	+	6	1300	c.945C>T	c.(943-945)gaC>gaT	p.D315D	OSGIN2_ENST00000451899.2_Silent_p.D359D	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	315					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGCCGCTGACGCAGTACTGT	0.428																																																	0													127	115	119					8																	90937187		2203	4300	6503	SO:0001819	synonymous_variant	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.945C>T	8.37:g.90937187C>T				Silent	SNP	NULL	p.D359	ENST00000297438.2	37	c.1077	CCDS6248.1	8																																																																																			OSGIN2	-	NULL		0.428	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	C	NM_004337		90937187	1	no_errors	ENST00000451899	ensembl	human	known	70_37	silent	SNP	0.998	T	T	90937187	C	T	90937187	2	4	40	1	0	0	0	0	0	0	0	1	11314	535	19	2		2	OSGIN2	8	90937187	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	68074257	90937187	55426835	49	5685										
TRPS1	7227	genome.wustl.edu	37	chr8	116430592	116430592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggtagaggccacacgcgttgCatacatatccgccatttgca	10	12	0	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:116430592C>T	ENST00000220888.5	-	5	2909	c.2750G>A	c.(2749-2751)tGc>tAc	p.C917Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.C921Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.C671Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.C930Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	917					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACACGCGTTGCATACATATCC	0.498									Langer-Giedion syndrome																																								0													136	137	137					8																	116430592		1984	4172	6156	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2750G>A	8.37:g.116430592C>T	ENSP00000220888:p.Cys917Tyr		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.C930Y	ENST00000220888.5	37	c.2789		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688377|3.688377	0.68271|0.68271	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.99985|.	-12.07;-12.07;-12.07;-12.07|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92561|0.92561	0.7637|0.7637	H|H	0.99789|0.99789	4.78|4.78	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.998|.	D|D	0.95618|0.95618	0.8678|0.8678	10|5	0.87932|.	D|.	0|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	921;917;930|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	Y|I	930;917;671;921|41	ENSP00000379065:C930Y;ENSP00000220888:C917Y;ENSP00000428910:C671Y;ENSP00000428680:C921Y|.	ENSP00000220888:C917Y|.	C|M	-|-	2|3	0|0	TRPS1|TRPS1	116499768|116499768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	TGC|ATG	TRPS1	-	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA		0.498	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	C	NM_014112		116430592	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116430592	C	T	116430592	3	4	40	1	0	0	0	0	1	0	0	0	16624	710	25	4	1103	4	TRPS1	8	116430592	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	25493405	116430592	29933430	50	5686										
NDRG1	10397	genome.wustl.edu	37	chr8	134276799	134276799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tcagaacttacggttcatgcCgatgtcatggtaggtgagga	13	7	3	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:134276799C>T	ENST00000414097.2	-	4	1063	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	NDRG1_ENST00000354944.5_Missense_Mutation_p.G66S|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.G66S|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000537882.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	66					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGGTTCATGCCGATGTCATGG	0.572			T	ERG	prostate																																			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0													155	130	139					8																	134276799		2203	4300	6503	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.196G>A	8.37:g.134276799C>T	ENSP00000404854:p.Gly66Ser		B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	pfam_Ndr	p.G66S	ENST00000414097.2	37	c.196	CCDS34945.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.574101	0.96553	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	D;T;D;T;T;T;T;T;T;T	0.91351	-2.83;1.66;-2.83;1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97270	0.9910	10	0.87932	D	0	-36.5164	18.0969	0.89493	0.0:1.0:0.0:0.0	.	66	Q92597	NDRG1_HUMAN	S	66;66;66;83;66;66;66;77;66;120	ENSP00000319977:G66S;ENSP00000347028:G66S;ENSP00000404854:G66S;ENSP00000428345:G83S;ENSP00000429994:G66S;ENSP00000429272:G66S;ENSP00000428384:G66S;ENSP00000429840:G77S;ENSP00000429524:G66S;ENSP00000428991:G120S	ENSP00000319977:G66S	G	-	1	0	NDRG1	134345981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.187000	0.77730	2.622000	0.88805	0.561000	0.74099	GGC	NDRG1	-	pfam_Ndr		0.572	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	HGNC	protein_coding	OTTHUMT00000378805.1	C			134276799	-1	no_errors	ENST00000323851	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134276799	C	T	134276799	3	4	40	1	0	0	0	0	1	0	0	0	10275	652	23	2	1040	2	NDRG1	8	134276799	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	17846207	134276799	12087223	51	5687										
PTPRD	5789	genome.wustl.edu	37	chr9	8341196	8341196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tggcataatattaacaaggcGatttttgaatttattacatg	7	4	0	1	rs138775068		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:8341196G>A	ENST00000381196.4	-	38	5563	c.5020C>T	c.(5020-5022)Cgc>Tgc	p.R1674C	PTPRD_ENST00000397617.3_Missense_Mutation_p.R1267C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1674C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1674C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1264C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1264C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1661C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1652C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1268C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1267C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1267C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1674	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTAACAAGGCGATTTTTGAAT	0.388										TSP Lung(15;0.13)																																							0													189	203	198					9																	8341196		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5020C>T	9.37:g.8341196G>A	ENSP00000370593:p.Arg1674Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.R1674C	ENST00000381196.4	37	c.5020	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834189	0.91036	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.048867	0.85682	D	0.000000	T	0.80808	0.4694	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.994;0.994;0.994;0.994;0.999;0.99;0.999;0.976;0.999	D	0.89092	0.3483	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1267;1258;1267;1268;1264;1264;1661;1674;1674	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1674;1674;1661;1652;1268;1267;1264;1264;1145;1674;1267;1267	ENSP00000370593:R1674C;ENSP00000348812:R1674C;ENSP00000353187:R1661C;ENSP00000351293:R1652C;ENSP00000347373:R1268C;ENSP00000380741:R1267C;ENSP00000380735:R1264C;ENSP00000440515:R1264C;ENSP00000438164:R1674C;ENSP00000417093:R1267C;ENSP00000380731:R1267C	.	R	-	1	0	PTPRD	8331196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CGC	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8341196	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8341196	G	A	8341196	3	1	40	1	0	0	0	0	1	0	0	0	12829	1058	37	1	742	1	PTPRD	9	8341196	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		8341196	132872235	52	5688										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18639370	18639370	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tttccagacaaagagatactGagaatggctggaccactcac	9	10	1	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:18639370G>T	ENST00000380548.4	+	7	1134	c.795G>T	c.(793-795)ctG>ctT	p.L265L	ADAMTSL1_ENST00000380566.4_Silent_p.L265L|ADAMTSL1_ENST00000327883.7_Silent_p.L265L|ADAMTSL1_ENST00000276935.6_Silent_p.L265L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	265						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGATACTGAGAATGGCTG	0.423																																																	0													65	67	66					9																	18639370		2203	4299	6502	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.795G>T	9.37:g.18639370G>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L265	ENST00000380548.4	37	c.795	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_ADAM_spacer1		0.423	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18639370	1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18639370	G	T	18639370	2	4	40	1	0	0	0	0	0	0	0	1	274	1277	45	3		3	ADAMTSL1	9	18639370	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	10298174	18639370	122574061	53	5689										
HAUS6	54801	genome.wustl.edu	37	chr9	19058250	19058250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggaaagagatttcttcagagCctcgtatctactgcgaagag	11	8	3	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:19058250C>A	ENST00000380502.3	-	16	2982	c.2515G>T	c.(2515-2517)Gct>Tct	p.A839S	HAUS6_ENST00000380496.1_Missense_Mutation_p.A703S	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	839					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCTTCAGAGCCTCGTATCTA	0.448																																																	0													124	125	125					9																	19058250		2203	4300	6503	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2515G>T	9.37:g.19058250C>A	ENSP00000369871:p.Ala839Ser		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.A839S	ENST00000380502.3	37	c.2515	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214576	0.39102	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.29397	1.6;1.57	5.65	4.72	0.59763	.	0.239154	0.41605	D	0.000853	T	0.36690	0.0976	L	0.60455	1.87	0.31419	N	0.674544	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.50049	0.629;0.629;0.629	T	0.42582	-0.9443	10	0.40728	T	0.16	-9.8016	10.351	0.43937	0.1352:0.7927:0.0:0.0721	.	804;703;839	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	S	839;703	ENSP00000369871:A839S;ENSP00000369865:A703S	ENSP00000369865:A703S	A	-	1	0	HAUS6	19048250	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	1.386000	0.34419	2.660000	0.90430	0.467000	0.42956	GCT	HAUS6	-	NULL		0.448	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	C	NM_017645		19058250	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19058250	C	A	19058250	3	1	40	1	0	0	0	0	1	0	0	0	6990	739	26	4	360	4	HAUS6	9	19058250	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	418880	19058250	122155181	54	5690										
TMC1	117531	genome.wustl.edu	37	chr9	75387407	75387407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gatggatgaatttcaggttgCcgctctcctattttctagtg	10	8	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:75387407C>A	ENST00000297784.5	+	13	1360	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	TMC1_ENST00000396237.3_Missense_Mutation_p.P274T|TMC1_ENST00000340019.3_Missense_Mutation_p.P274T	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTCAGGTTGCCGCTCTCCTA	0.388																																					Pancreas(75;173 1345 14232 34245 43413)												0													221	216	218					9																	75387407		2203	4300	6503	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.820C>A	9.37:g.75387407C>A	ENSP00000297784:p.Pro274Thr		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.P274T	ENST00000297784.5	37	c.820	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772796	0.90108	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.62364	0.03;0.03;0.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.91818	3.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72982	0.971;0.971;0.979	D	0.87018	0.2127	10	0.87932	D	0	-13.4946	19.5228	0.95192	0.0:1.0:0.0:0.0	.	241;241;274	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	T	274;274;241;241;241;268;274	ENSP00000297784:P274T;ENSP00000341433:P274T;ENSP00000379538:P274T	ENSP00000297784:P274T	P	+	1	0	TMC1	74577227	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.115000	0.77110	2.770000	0.95276	0.650000	0.86243	CCG	TMC1	-	NULL		0.388	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	C			75387407	1	no_errors	ENST00000297784	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75387407	C	A	75387407	3	1	40	1	0	0	0	0	1	0	0	0	16014	739	26	4	854	4	TMC1	9	75387407	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	56329157	75387407	65826024	55	5691										
ACTL7B	10880	genome.wustl.edu	37	chr9	111617580	111617580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gcccggcagcacgtcgccctCggatatgggcaccacgtgcg	14	16	0	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:111617580C>T	ENST00000374667.3	-	1	1659	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	211						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGTCGCCCTCGGATATGGGC	0.662																																																	0													45	38	40					9																	111617580		2203	4298	6501	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.631G>A	9.37:g.111617580C>T	ENSP00000363799:p.Glu211Lys		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E211K	ENST00000374667.3	37	c.631	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691089	0.68271	.	.	ENSG00000148156	ENST00000374667	D	0.95035	-3.59	4.63	3.71	0.42584	.	0.185423	0.25866	N	0.027786	D	0.95843	0.8647	M	0.85462	2.755	0.45979	D	0.998798	D	0.59357	0.985	P	0.52309	0.695	D	0.95720	0.8765	10	0.87932	D	0	.	12.2948	0.54840	0.0:0.8277:0.1723:0.0	.	211	Q9Y614	ACL7B_HUMAN	K	211	ENSP00000363799:E211K	ENSP00000363799:E211K	E	-	1	0	ACTL7B	110657401	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	4.864000	0.62990	1.130000	0.42092	0.655000	0.94253	GAG	ACTL7B	-	pfam_Actin-like,smart_Actin-like		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617580	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	0.998	T	T	111617580	C	T	111617580	3	4	40	1	0	0	0	0	1	0	0	0	201	893	31	1	620	1	ACTL7B	9	111617580	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	36230173	111617580	29595851	56	5692										
ASTN2	23245	genome.wustl.edu	37	chr9	119249769	119249769	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agtaagtcatcagcaaaactCaggaattctcctggagggag	11	8	4	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:119249769C>G	ENST00000313400.4	-	20	3466	c.3366G>C	c.(3364-3366)ctG>ctC	p.L1122L	ASTN2_ENST00000288520.5_Silent_p.L223L|ASTN2_ENST00000341734.4_Silent_p.L174L|ASTN2_ENST00000361209.2_Silent_p.L1071L|ASTN2_ENST00000361477.3_Silent_p.L174L|ASTN2_ENST00000373996.3_Silent_p.L1118L			O75129	ASTN2_HUMAN	astrotactin 2	1122	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCAAAACTCAGGAATTCTC	0.483																																																	0													53	54	54					9																	119249769		2203	4300	6503	SO:0001819	synonymous_variant	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3366G>C	9.37:g.119249769C>G			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.L1122	ENST00000313400.4	37	c.3366		9																																																																																			ASTN2	-	superfamily_Fibronectin_type3		0.483	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		C	NM_014010		119249769	-1	no_errors	ENST00000313400	ensembl	human	known	70_37	silent	SNP	1.000	G	G	119249769	C	G	119249769	2	3	40	1	0	0	0	0	0	0	0	1	1066	813	29	1		1	ASTN2	9	119249769	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	7632189	119249769	21963662	57	5693										
CEP110	11064	genome.wustl.edu	37	chr9	123858773	123858773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gaaatgaaattgagcatattCcagtatggttagggaagaag	12	3	0	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:123858773C>T	ENST00000373855.1	+	6	813	c.553C>T	c.(553-555)Cca>Tca	p.P185S	CNTRL_ENST00000238341.5_Missense_Mutation_p.P185S|CNTRL_ENST00000373865.2_Missense_Mutation_p.P185S			Q7Z7A1	CNTRL_HUMAN	centriolin	185					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAGCATATTCCAGTATGGTT	0.323																																																	0													98	104	102					9																	123858773		2203	4299	6502	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.553C>T	9.37:g.123858773C>T	ENSP00000362962:p.Pro185Ser		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.P185S	ENST00000373855.1	37	c.553	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777667	0.90195	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.52983	0.64;0.64	5.87	5.87	0.94306	.	.	.	.	.	T	0.72510	0.3469	M	0.80183	2.485	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	T	0.74813	-0.3537	9	0.87932	D	0	.	19.2028	0.93717	0.0:1.0:0.0:0.0	.	185	Q7Z7A1	CNTRL_HUMAN	S	185	ENSP00000362962:P185S;ENSP00000238341:P185S	ENSP00000238341:P185S	P	+	1	0	CNTRL	122898594	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.198000	0.72106	2.785000	0.95823	0.591000	0.81541	CCA	CNTRL	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.323	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	C	NM_007018		123858773	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123858773	C	T	123858773	3	4	40	1	0	0	0	0	1	0	0	0	3250	855	30	1	567	1	CEP110	9	123858773	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	4609004	123858773	17354658	58	5694										
LRRC8A	56262	genome.wustl.edu	37	chr9	131671153	131671153	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gatgtgggcgtgcacctgcaGaagctgtccatcaacaatga	12	10	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:131671153G>A	ENST00000259324.5	+	3	2233	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	LRRC8A_ENST00000372600.4_Silent_p.Q570Q|LRRC8A_ENST00000372599.3_Silent_p.Q570Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	570					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCACCTGCAGAAGCTGTCCA	0.587																																																	0													84	70	75					9																	131671153		2203	4300	6503	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1710G>A	9.37:g.131671153G>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q570	ENST00000259324.5	37	c.1710	CCDS35155.1	9																																																																																			LRRC8A	-	NULL		0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	G	NM_019594		131671153	1	no_errors	ENST00000259324	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131671153	G	A	131671153	2	1	40	1	0	0	0	0	0	0	0	1	9044	933	33	1		1	LRRC8A	9	131671153	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	7812380	131671153	9542278	59	5695										
TMEM8C	389827	genome.wustl.edu	37	chr9	136385318	136385318	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	atcagcgagacccacatgctCagggctgtcccgtagacact	10	14	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:136385318C>G	ENST00000339996.3	-	2	329	c.228G>C	c.(226-228)ctG>ctC	p.L76L	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	76					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CCCACATGCTCAGGGCTGTCC	0.597																																																	0													117	97	103					9																	136385318		2203	4300	6503	SO:0001819	synonymous_variant	389827			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.228G>C	9.37:g.136385318C>G				Silent	SNP	pfam_DUF3522	p.L76	ENST00000339996.3	37	c.228	CCDS35170.1	9																																																																																			TMEM8C	-	pfam_DUF3522		0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	C	NM_001080483		136385318	-1	no_errors	ENST00000339996	ensembl	human	known	70_37	silent	SNP	0.998	G	G	136385318	C	G	136385318	2	3	40	1	0	0	0	0	0	0	0	1	16246	813	29	1		1	TMEM8C	9	136385318	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	4714165	136385318	4828113	60	5696										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24874805	24874805	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctgttttctttggcaatgatGatcttctgttttctgcccag	8	9	4	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:24874805G>T	ENST00000396432.2	-	26	4899	c.4413C>A	c.(4411-4413)atC>atA	p.I1471I		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1470					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGCAATGATGATCTTCTGTT	0.393																																																	0													259	242	248					10																	24874805		2203	4300	6503	SO:0001819	synonymous_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4413C>A	10.37:g.24874805G>T			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.I1471	ENST00000396432.2	37	c.4413	CCDS7144.2	10																																																																																			ARHGAP21	-	NULL		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	G	NM_020824		24874805	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	silent	SNP	0.000	T	T	24874805	G	T	24874805	2	4	40	1	0	0	0	0	0	0	0	1	871	1280	45	3		3	ARHGAP21	10	24874805	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		24874805	110659942	61	5697										
ASCC1	51008	genome.wustl.edu	37	chr10	73921387	73921387	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	caacatcccaatagttagatGaagctttttaggattctgga	8	7	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:73921387G>A	ENST00000342444.4	-	7	720	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	ASCC1_ENST00000317168.6_Missense_Mutation_p.H179Y|ASCC1_ENST00000394919.1_Missense_Mutation_p.H179Y|ASCC1_ENST00000317126.4_Missense_Mutation_p.H179Y|ASCC1_ENST00000545550.1_Missense_Mutation_p.H201Y|ASCC1_ENST00000394915.3_Missense_Mutation_p.H207Y	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						ATAGTTAGATGAAGCTTTTTA	0.403																																																	0													148	144	146					10																	73921387		2203	4300	6503	SO:0001583	missense	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.619C>T	10.37:g.73921387G>A	ENSP00000339404:p.His207Tyr		Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1	p.H207Y	ENST00000342444.4	37	c.619	CCDS55713.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.024599|5.024599	0.93518|0.93518	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530431;ENST00000531048|ENST00000486689	D;D;D;D;D;D;D|.	0.96073|.	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.09|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Protein kinase A anchor protein, nuclear localisation signal domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85822|0.85822	0.5786|0.5786	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	D|D	0.88532|0.88532	0.3103|0.3103	10|5	0.87932|.	D|.	0|.	-15.7921|-15.7921	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201;207;94|.	F5H874;Q8N9N2;B3KU20|.	.;ASCC1_HUMAN;.|.	Y|L	179;207;179;179;94;179;201;207;94;113|110	ENSP00000378377:H179Y;ENSP00000339404:H207Y;ENSP00000320810:H179Y;ENSP00000320461:H179Y;ENSP00000442121:H201Y;ENSP00000378373:H207Y;ENSP00000436098:H113Y|.	ENSP00000320461:H179Y|.	H|S	-|-	1|2	0|0	ASCC1|ASCC1	73591393|73591393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.333000|8.333000	0.90026|0.90026	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	CAT|TCA	ASCC1	-	pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT		0.403	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ASCC1	HGNC	protein_coding	OTTHUMT00000048573.2	G	NM_015947		73921387	-1	no_errors	ENST00000342444	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73921387	G	A	73921387	3	1	40	1	0	0	0	0	1	0	0	0	1032	1290	45	1	558	1	ASCC1	10	73921387	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	49046582	73921387	61613360	62	5698										
PTEN	5728	genome.wustl.edu	37	chr10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A													0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tatctagtacttactttaacINSaaaaaatgatcttgacaaag					rs587783058|rs121913291		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:89720811_89720812insA	ENST00000371953.3	+	8	2319_2320	c.962_963insA	c.(961-966)acaaaafs	p.TK321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	73	Whole gene deletion(37)|Deletion - Frameshift(20)|Insertion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)	endometrium(18)|prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|pancreas(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.968dupA	10.37:g.89720817_89720817dupA	ENSP00000361021:p.Thr321fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.N323fs	ENST00000371953.3	37	c.962_963	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	NM_000314		89720812	1	no_errors	ENST00000371953	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	89720812	-	A	89720811	7	5	40	1	0	1	1	0	0	0	0	0	12765	478	17	0	992	0	PTEN	10	89720811	Frame_Shift_Ins	INS	-	TCGA-C5-A3HL-01A-11D-A20U-09	15799424	89720811	45813936	63	5699										
MKI67	4288	genome.wustl.edu	37	chr10	129917553	129917553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cttggaaattcagttgacttCcttccattctgaagactttc	6	10	2	3	rs376171554		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:129917553C>T	ENST00000368654.3	-	5	693	c.318G>A	c.(316-318)agG>agA	p.R106R	MKI67_ENST00000368653.3_Silent_p.R106R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	106					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGTTGACTTCCTTCCATTCT	0.363																																																	0								C	,	0,4402		0,0,2201	161	139	146		318,318	-0.3	0	10		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	106/2897,106/3257	129917553	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.318G>A	10.37:g.129917553C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R106	ENST00000368654.3	37	c.318	CCDS7659.1	10																																																																																			MKI67	-	NULL		0.363	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129917553	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	silent	SNP	0.001	T	T	129917553	C	T	129917553	2	4	40	1	0	0	0	0	0	0	0	1	9621	854	30	1		1	MKI67	10	129917553	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	40196742	129917553	5617194	64	5700										
MUC5B	727897	genome.wustl.edu	37	chr11	1248315	1248315	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gtggagcagagcggggactaCatcaaggtcagcatccggct	15	10	2	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:1248315C>A	ENST00000529681.1	+	5	574	c.516C>A	c.(514-516)taC>taA	p.Y172*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.Y172*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	172	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGGGACTACATCAAGGTCA	0.672																																																	0													31	36	34					11																	1248315		2033	4159	6192	SO:0001587	stop_gained	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.516C>A	11.37:g.1248315C>A	ENSP00000436812:p.Tyr172*		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Y172*	ENST00000529681.1	37	c.516	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745832	0.49151	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.2911	0.26366	0.0:0.5651:0.0:0.4349	.	.	.	.	X	172;172;172;205	.	ENSP00000343037:Y172X	Y	+	3	2	MUC5B	1204891	0.001000	0.12720	0.009000	0.14445	0.020000	0.10135	-0.205000	0.09411	0.071000	0.16664	0.455000	0.32223	TAC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1248315	1	no_errors	ENST00000447027	ensembl	human	known	70_37	nonsense	SNP	0.016	A	A	1248315	C	A	1248315	4	1	40	1	0	0	0	0	0	1	0	0	10002	489	17	4	534	4	MUC5B	11	1248315	Nonsense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		1248315	133758201	65	5701										
OR52B2	255725	genome.wustl.edu	37	chr11	6191249	6191249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	acatcatatggacaaagaagCcttgggtgacacaggcatca	10	9	2	2	rs373301786		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:6191249C>A	ENST00000530810.1	-	1	389	c.308G>T	c.(307-309)gGc>gTc	p.G103V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAAGAAGCCTTGGGTGAC	0.493																																					NSCLC(5;186 261 1778 7098 14207)												0													113	117	115					11																	6191249		2172	4283	6455	SO:0001583	missense	255725			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"GPCR / Class A : Olfactory receptors"	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.308G>T	11.37:g.6191249C>A	ENSP00000432011:p.Gly103Val		Q8NGM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G103V	ENST00000530810.1	37	c.308	CCDS53598.1	11	.	.	.	.	.	.	.	.	.	.	A	11.17	1.561209	0.27915	.	.	ENSG00000255307	ENST00000530810	T	0.02974	4.09	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01189	0.0039	N	0.00483	-1.445	0.41802	D	0.989923	B	0.02656	0.0	B	0.01281	0.0	T	0.57952	-0.7722	9	0.39692	T	0.17	.	11.5279	0.50591	0.8498:0.1502:0.0:0.0	.	103	Q96RD2	O52B2_HUMAN	V	103	ENSP00000432011:G103V	ENSP00000432011:G103V	G	-	2	0	OR52B2	6147825	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.321000	0.59209	0.943000	0.37553	-0.269000	0.10298	GGC	OR52B2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.493	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B2	HGNC	protein_coding	OTTHUMT00000385977.1	C	NM_001004052		6191249	-1	no_errors	ENST00000530810	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6191249	C	A	6191249	3	1	40	1	0	0	0	0	1	0	0	0	11135	739	26	4	666	4	OR52B2	11	6191249	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	4942934	6191249	128815267	66	5702										
DCHS1	8642	genome.wustl.edu	37	chr11	6662559	6662559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	acggacgaccccactgtgttCgtcaatggccaggtctgtgc	12	13	2	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:6662559C>T	ENST00000299441.3	-	2	697	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACTGTGTTCGTCAATGGCC	0.627																																																	0													57	52	54					11																	6662559		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.286G>A	11.37:g.6662559C>T	ENSP00000299441:p.Glu96Lys		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E96K	ENST00000299441.3	37	c.286	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893789	0.72639	.	.	ENSG00000166341	ENST00000299441	T	0.38240	1.15	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.47093	D	0.000247	T	0.56441	0.1985	M	0.67625	2.065	0.58432	D	0.999997	D	0.71674	0.998	D	0.72982	0.979	T	0.49184	-0.8966	10	0.12766	T	0.61	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	96	Q96JQ0	PCD16_HUMAN	K	96	ENSP00000299441:E96K	ENSP00000299441:E96K	E	-	1	0	DCHS1	6619135	1.000000	0.71417	0.895000	0.35142	0.947000	0.59692	5.919000	0.70005	2.536000	0.85505	0.643000	0.83706	GAA	DCHS1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.627	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6662559	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6662559	C	T	6662559	3	4	40	1	0	0	0	0	1	0	0	0	4292	893	31	1	9690	1	DCHS1	11	6662559	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	471310	6662559	128343957	67	5703										
MICALCL	84953	genome.wustl.edu	37	chr11	12315972	12315972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agcattcccctgggagaaacCagtcctcagcctttagccct	8	15	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:12315972C>A	ENST00000256186.2	+	3	1285	c.994C>A	c.(994-996)Cag>Aag	p.Q332K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	332					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGGAGAAACCAGTCCTCAGC	0.567																																																	0													88	99	95					11																	12315972		1989	4150	6139	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.994C>A	11.37:g.12315972C>A	ENSP00000256186:p.Gln332Lys		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.Q332K	ENST00000256186.2	37	c.994	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326734	0.24080	.	.	ENSG00000133808	ENST00000256186	T	0.36699	1.24	5.43	5.43	0.79202	.	0.173042	0.27600	N	0.018641	T	0.32763	0.0840	M	0.64997	1.995	0.23076	N	0.998339	B	0.31485	0.325	B	0.25614	0.062	T	0.27226	-1.0080	10	0.11485	T	0.65	.	14.7414	0.69458	0.0:1.0:0.0:0.0	.	332	Q6ZW33	MICLK_HUMAN	K	332	ENSP00000256186:Q332K	ENSP00000256186:Q332K	Q	+	1	0	MICALCL	12272548	0.000000	0.05858	0.639000	0.29394	0.126000	0.20510	0.572000	0.23684	2.548000	0.85928	0.460000	0.39030	CAG	MICALCL	-	NULL		0.567	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	C	NM_032867		12315972	1	no_errors	ENST00000256186	ensembl	human	known	70_37	missense	SNP	0.940	A	A	12315972	C	A	12315972	3	1	40	1	0	0	0	0	1	0	0	0	9595	595	21	4	1000	4	MICALCL	11	12315972	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	5653413	12315972	122690544	68	5704										
APLNR	187	genome.wustl.edu	37	chr11	57003624	57003624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gggaagatgttcatgaggaaGaggtcaaagtcacagggcca	15	6	3	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:57003624G>A	ENST00000606794.1	-	1	1051	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	285					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCATGAGGAAGAGGTCAAAGT	0.582																																																	0													106	61	76					11																	57003624		2201	4296	6497	SO:0001819	synonymous_variant	187			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.855C>T	11.37:g.57003624G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.L285	ENST00000606794.1	37	c.855	CCDS7950.1	11																																																																																			APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt		0.582	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	G	NM_005161		57003624	-1	no_errors	ENST00000257254	ensembl	human	known	70_37	silent	SNP	0.997	A	A	57003624	G	A	57003624	2	1	40	1	0	0	0	0	0	0	0	1	777	929	33	1		1	APLNR	11	57003624	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	44687652	57003624	78002892	69	5705										
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546749	65546749	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agggccattgggtcatgcagGagactgggcaggagaccacg	17	9	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:65546749G>C	ENST00000532090.2	-	2	1425	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	405	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGTCATGCAGGAGACTGGGCA	0.642																																																	0													19	24	22					11																	65546749		2081	4203	6284	SO:0001819	synonymous_variant	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1215C>G	11.37:g.65546749G>C			A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L405	ENST00000532090.2	37	c.1215	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.642	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546749	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	silent	SNP	0.948	C	C	65546749	G	C	65546749	2	2	40	1	0	0	0	0	0	0	0	1	4553	1161	41	1		1	DKFZp761E198	11	65546749	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	8543125	65546749	69459767	70	5706										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103026151	103026151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tctccttggacttcctagggGgactagtctagagaaactac	10	10	2	1	rs201194631		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:103026151G>A	ENST00000375735.2	+	25	3809	c.3665G>A	c.(3664-3666)gGg>gAg	p.G1222E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1222E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1222	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTCCTAGGGGGACTAGTCTA	0.408													G|||	1	0.000199681	0	0	5008	,	,		13122	0		0.001	False		,,,				2504	0																0								G	GLU/GLY,GLU/GLY	0,3674		0,0,1837	85	85	85		3665,3665	5.5	1	11		85	6,8158		0,6,4076	no	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	98,98	0,6,5913	AA,AG,GG		0.0735,0.0,0.0507	benign,benign	1222/4315,1222/4308	103026151	6,11832	1837	4082	5919	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3665G>A	11.37:g.103026151G>A	ENSP00000364887:p.Gly1222Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G1222E	ENST00000375735.2	37	c.3665	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690425	0.88735	0.0	7.35E-4	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60299	0.2;0.2	5.48	5.48	0.80851	Dynein heavy chain, domain-2 (1);	0.204695	0.30565	U	0.009349	T	0.50257	0.1605	L	0.42632	1.34	0.80722	D	1	P;P	0.41131	0.624;0.739	B;B	0.40901	0.3;0.343	T	0.50127	-0.8864	10	0.02654	T	1	.	19.3575	0.94421	0.0:0.0:1.0:0.0	.	1222;1222	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	1222	ENSP00000364887:G1222E;ENSP00000381167:G1222E	ENSP00000364887:G1222E	G	+	2	0	DYNC2H1	102531361	1.000000	0.71417	0.992000	0.48379	0.849000	0.48306	9.388000	0.97237	2.577000	0.86979	0.650000	0.86243	GGG	DYNC2H1	-	pfam_Dynein_heavy_dom-2		0.408	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103026151	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103026151	G	A	103026151	3	1	40	1	0	0	0	0	1	0	0	0	4856	1232	43	4	3763	4	DYNC2H1	11	103026151	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	37479402	103026151	31980365	71	5707										
DSCAML1	57453	genome.wustl.edu	37	chr11	117310107	117310107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tgccattggtgtggatgagcCggtgcccatccatggacact	13	11	0	1	rs61730454	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:117310107C>T	ENST00000321322.6	-	23	4200	c.4199G>A	c.(4198-4200)cGg>cAg	p.R1400Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1130Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1340	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R1400L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGATGAGCCGGTGCCCATC	0.622													C|||	5	0.000998403	8e-04	0.0029	5008	,	,		18051	0		0.002	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	3,4399	6.2+/-15.9	0,3,2198	92	79	83		4199	4.9	1	11	dbSNP_129	83	45,8547	30.1+/-81.4	0,45,4251	yes	missense	DSCAML1	NM_020693.2	43	0,48,6449	TT,TC,CC		0.5237,0.0682,0.3694	probably-damaging	1400/2114	117310107	48,12946	2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4199G>A	11.37:g.117310107C>T	ENSP00000315465:p.Arg1400Gln		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1400Q	ENST00000321322.6	37	c.4199	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675090	0.88445	6.82E-4	0.005237	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66995	-0.24;-0.24	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72700	0.3493	L	0.56340	1.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74372	-0.3687	9	0.36615	T	0.2	.	18.2491	0.89997	0.0:1.0:0.0:0.0	.	1340	Q8TD84	DSCL1_HUMAN	Q	1130;1400;1107	ENSP00000434335:R1130Q;ENSP00000315465:R1400Q	ENSP00000315465:R1400Q	R	-	2	0	DSCAML1	116815317	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	5.917000	0.69989	2.549000	0.85964	0.561000	0.74099	CGG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117310107	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117310107	C	T	117310107	3	4	40	1	0	0	0	0	1	0	0	0	4779	652	23	2	2186	2	DSCAML1	11	117310107	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	14283956	117310107	17696409	72	5708										
LRTM2	654429	genome.wustl.edu	37	chr12	1940559	1940559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tctcgcttcgctccaaccgtCtgcagaatctggaccggctg	10	15	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:1940559C>G	ENST00000543818.1	+	4	1368	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.L176V|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.L176V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	176						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTCCAACCGTCTGCAGAATCT	0.617																																																	0													50	55	53					12																	1940559		2203	4300	6503	SO:0001583	missense	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.526C>G	12.37:g.1940559C>G	ENSP00000446278:p.Leu176Val		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L176V	ENST00000543818.1	37	c.526	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562747	0.45694	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.65916	-0.18;-0.18;-0.18	4.86	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.81095	-0.1088	10	0.72032	D	0.01	.	12.4451	0.55647	0.0:0.7819:0.0:0.2181	.	176	Q8N967	LRTM2_HUMAN	V	176	ENSP00000446278:L176V;ENSP00000299194:L176V;ENSP00000444737:L176V	ENSP00000299194:L176V	L	+	1	2	LRTM2	1810820	1.000000	0.71417	0.995000	0.50966	0.244000	0.25665	2.726000	0.47302	0.857000	0.35407	0.561000	0.74099	CTG	LRTM2	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	C			1940559	1	no_errors	ENST00000299194	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1940559	C	G	1940559	3	3	40	1	0	0	0	0	1	0	0	0	9068	912	32	1	532	1	LRTM2	12	1940559	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		1940559	131911336	73	5709										
DENND5B	160518	genome.wustl.edu	37	chr12	31566465	31566465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cacgcccgagctcgtccaacAtcagtcttgatctcactcat	6	16	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:31566465A>G	ENST00000389082.5	-	13	2850	c.2586T>C	c.(2584-2586)gaT>gaC	p.D862D	DENND5B_ENST00000306833.6_Silent_p.D897D|DENND5B_ENST00000536562.1_Silent_p.D897D	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	862	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCGTCCAACATCAGTCTTGA	0.413																																																	0													109	100	103					12																	31566465		1894	4122	6016	SO:0001819	synonymous_variant	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2586T>C	12.37:g.31566465A>G			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.D897	ENST00000389082.5	37	c.2691	CCDS44857.1	12																																																																																			DENND5B	-	pfam_Run,pfscan_Run		0.413	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	A	NM_144973		31566465	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	silent	SNP	0.694	G	G	31566465	A	G	31566465	2	3	40	1	0	0	0	0	0	0	0	1	4447	214	8	5		5	DENND5B	12	31566465	Silent	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	29625906	31566465	102285430	74	5710										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43925948	43925948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tattcattcccatctgccttCattataggttctaagaaata	4	9	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:43925948C>T	ENST00000389420.3	-	3	503	c.504G>A	c.(502-504)atG>atA	p.M168I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M168I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	168					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATCTGCCTTCATTATAGGTT	0.353																																																	0													148	147	147					12																	43925948		2202	4300	6502	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.504G>A	12.37:g.43925948C>T	ENSP00000374071:p.Met168Ile		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.M168I	ENST00000389420.3	37	c.504	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	5.812	0.334098	0.11013	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.60548	0.35;0.18	4.84	3.94	0.45596	Peptidase M12B, propeptide (1);	0.248504	0.27134	N	0.020763	T	0.47710	0.1460	L	0.38531	1.155	0.80722	D	1	B	0.14012	0.009	B	0.22152	0.038	T	0.40515	-0.9559	10	0.33940	T	0.23	.	12.9835	0.58577	0.0:0.9177:0.0:0.0823	.	168	P59510	ATS20_HUMAN	I	168	ENSP00000374071:M168I;ENSP00000448341:M168I	ENSP00000374068:M168I	M	-	3	0	ADAMTS20	42212215	1.000000	0.71417	0.382000	0.26119	0.279000	0.26890	2.901000	0.48695	1.341000	0.45600	0.650000	0.86243	ATG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43925948	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	0.988	T	T	43925948	C	T	43925948	3	4	40	1	0	0	0	0	1	0	0	0	266	826	29	1	5375	1	ADAMTS20	12	43925948	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	12359483	43925948	89925947	75	5711										
BIN2	51411	genome.wustl.edu	37	chr12	51686077	51686077	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggtgaggtaagaggactggaGactgtagctgttcgaactgg	17	5	0	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:51686077G>A	ENST00000267012.4	-	10	874	c.813C>T	c.(811-813)gtC>gtT	p.V271V	BIN2_ENST00000544402.1_Silent_p.V245V|BIN2_ENST00000604560.1_Silent_p.V244V|BIN2_ENST00000452142.2_Silent_p.V239V	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	271					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GAGGACTGGAGACTGTAGCTG	0.483																																																	0													55	58	57					12																	51686077		2203	4292	6495	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.813C>T	12.37:g.51686077G>A			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.V271	ENST00000267012.4	37	c.813	CCDS8811.1	12																																																																																			BIN2	-	NULL		0.483	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	G			51686077	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	silent	SNP	0.001	A	A	51686077	G	A	51686077	2	1	40	1	0	0	0	0	0	0	0	1	1434	929	33	1		1	BIN2	12	51686077	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	7760129	51686077	82165818	76	5712										
KRT86	3892	genome.wustl.edu	37	chr12	52699842	52699842	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttgttctctctgttctcttcAgaattccaagctggaggctg	9	10	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:52699842A>G	ENST00000423955.2	+	9	1204		c.e9-1		KRT86_ENST00000293525.5_Splice_Site|KRT86_ENST00000544024.1_Splice_Site|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCTCTTCAGAATTCCAAG	0.597											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	40	39					12																	52699842		2203	4300	6503	SO:0001630	splice_region_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1027-1A>G	12.37:g.52699842A>G		987	P78387	Splice_Site	SNP	-	e7-2	ENST00000423955.2	37	c.1027-2	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	a	11.83	1.754422	0.31046	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.736	0.62817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC021066.1;KRT86	50986109	1.000000	0.71417	0.985000	0.45067	0.126000	0.20510	7.289000	0.78701	1.997000	0.58415	0.454000	0.30748	.	KRT86	-	-		0.597	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	A	NM_002284	Intron	52699842	1	no_errors	ENST00000293525	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	52699842	A	G	52699842	5	3	40	1	0	0	0	0	0	0	1	0	8520	202	7	5	1051	5	KRT86	12	52699842	Splice_Site	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	1013765	52699842	81152053	77	5713										
KRT6B	3854	genome.wustl.edu	37	chr12	52845801	52845801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ccccagggagcctggctgagTtggcactgaaaccccggcgg	15	14	0	2	rs428894	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:52845801T>C	ENST00000252252.3	-	1	109	c.62A>G	c.(61-63)aAc>aGc	p.N21S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	21	Head.		N -> S (in dbSNP:rs428894). {ECO:0000269|PubMed:2410904, ECO:0000269|PubMed:7543104}.		ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCTGGCTGAGTTGGCACTGAA	0.647																																																	0													14	16	15					12																	52845801		2180	4233	6413	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.62A>G	12.37:g.52845801T>C	ENSP00000252252:p.Asn21Ser		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.N21S	ENST00000252252.3	37	c.62	CCDS8828.1	12	1323	0.6057692307692307	240	0.4878048780487805	233	0.643646408839779	413	0.722027972027972	437	0.5765171503957783	C	5.203	0.222893	0.09863	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.74947	-0.89	2.98	2.98	0.34508	.	0.755412	0.12892	N	0.430493	T	0.00012	0.0000	N	0.01761	-0.735	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.12430	T	0.62	.	6.1872	0.20503	0.0:0.5101:0.3697:0.1202	rs428894;rs1053681;rs3809177;rs4083307;rs4761915;rs17099820;rs59601513	21	P04259	K2C6B_HUMAN	S	21	ENSP00000252252:N21S	ENSP00000252252:N21S	N	-	2	0	KRT6B	51132068	0.065000	0.20965	0.911000	0.35937	0.615000	0.37417	0.318000	0.19504	0.849000	0.35215	-0.711000	0.03637	AAC	KRT6B	-	NULL		0.647	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	T	NM_005555		52845801	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	0.831	C	C	52845801	T	C	52845801	3	2	40	1	0	0	0	0	1	0	0	0	8501	1725	60	5	1668	5	KRT6B	12	52845801	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	145959	52845801	81006094	78	5714										
BAZ2A	11176	genome.wustl.edu	37	chr12	56996536	56996537	+	Frame_Shift_Ins	INS	-	-	AT													0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tctacaaagataccagccaaINSatacggcaatacccagtagc							TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:56996536_56996537insAT	ENST00000551812.1	-	19	3583_3584	c.3390_3391insAT	c.(3388-3393)tatttgfs	p.L1131fs	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.L1099fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.L1129fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.L1101fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1131					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						ATACCAGCCAAATACGGCAATA	0.485																																																	0																																										SO:0001589	frameshift_variant	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3389_3390dupAT	12.37:g.56996537_56996538dupAT	ENSP00000446880:p.Leu1131fs		B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1130fs	ENST00000551812.1	37	c.3391_3390	CCDS44924.1	12																																																																																			BAZ2A	-	NULL		0.485	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	NM_013449		56996537	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	AT	AT	56996537	-	AT	56996536	7	5	40	1	0	1	1	0	0	0	0	0	1332	11	1	0	2370	0	BAZ2A	12	56996536	Frame_Shift_Ins	INS	-	TCGA-C5-A3HL-01A-11D-A20U-09	4150735	56996536	76855359	79	5715										
NAV3	89795	genome.wustl.edu	37	chr12	78444742	78444742	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttcatccacacagacccctcGaggttcatgtataccacgcc	6	16	2	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:78444742G>T	ENST00000397909.2	+	11	2504	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	NAV3_ENST00000266692.7_Silent_p.S777S|NAV3_ENST00000536525.2_Silent_p.S777S|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Silent_p.S777S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	777						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGACCCCTCGAGGTTCATGT	0.572										HNSCC(70;0.22)																																							0													66	66	66					12																	78444742		2074	4205	6279	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2331G>T	12.37:g.78444742G>T			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S777	ENST00000397909.2	37	c.2331		12																																																																																			NAV3	-	NULL		0.572	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444742	1	no_errors	ENST00000397909	ensembl	human	known	70_37	silent	SNP	0.004	T	T	78444742	G	T	78444742	2	4	40	1	0	0	0	0	0	0	0	1	10208	1045	37	3		3	NAV3	12	78444742	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	21448206	78444742	55407153	80	5716										
EEA1	8411	genome.wustl.edu	37	chr12	93285460	93285460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttataggagttgctgatgaaTctaaatcagaaccttgagag	10	5	2	4			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:93285460T>A	ENST00000322349.8	-	2	326	c.62A>T	c.(61-63)gAt>gTt	p.D21V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	21					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCTGATGAATCTAAATCAGA	0.363																																																	0													111	121	118					12																	93285460		2203	4300	6503	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.62A>T	12.37:g.93285460T>A	ENSP00000317955:p.Asp21Val		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.D21V	ENST00000322349.8	37	c.62	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820619	0.50633	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.71341	-0.56	5.65	5.65	0.86999	.	0.000000	0.48286	D	0.000193	T	0.79034	0.4378	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80852	-0.1197	10	0.87932	D	0	.	12.2513	0.54599	0.0:0.0:0.0:1.0	.	21	Q15075	EEA1_HUMAN	V	21;20	ENSP00000317955:D21V	ENSP00000317955:D21V	D	-	2	0	EEA1	91809591	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.301000	0.59086	2.140000	0.66376	0.533000	0.62120	GAT	EEA1	-	NULL		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	T	NM_003566		93285460	-1	no_errors	ENST00000322349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93285460	T	A	93285460	3	1	40	1	0	0	0	0	1	0	0	0	4931	1435	50	5	4285	5	EEA1	12	93285460	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	14840718	93285460	40566435	81	5717										
MLXIP	22877	genome.wustl.edu	37	chr12	122618282	122618282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cggcctctgccaccctcaccCacgatgcccccgccaccacc	6	25	2	0	rs199709826		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:122618282C>T	ENST00000319080.7	+	9	1612	c.1480C>T	c.(1480-1482)Cac>Tac	p.H494Y	MLXIP_ENST00000538698.1_Missense_Mutation_p.H101Y|MLXIP_ENST00000377037.2_Missense_Mutation_p.H84Y					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACCCTCACCCACGATGCCCC	0.642																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													39	48	45					12																	122618282		2185	4283	6468	SO:0001583	missense	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1480C>T	12.37:g.122618282C>T	ENSP00000312834:p.His494Tyr			Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.H494Y	ENST00000319080.7	37	c.1480		12	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291767	0.59976	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.61859	0.07;0.07;0.07	5.23	5.23	0.72850	.	0.248230	0.41194	D	0.000939	T	0.64907	0.2641	.	.	.	0.46061	D	0.998847	D;D	0.71674	0.991;0.998	D;P	0.73708	0.981;0.899	T	0.57682	-0.7769	9	0.02654	T	1	-16.5348	18.8133	0.92068	0.0:1.0:0.0:0.0	.	494;494	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	Y	494;101;101;84	ENSP00000312834:H494Y;ENSP00000440769:H101Y;ENSP00000366236:H84Y	ENSP00000312834:H494Y	H	+	1	0	MLXIP	121184235	0.986000	0.35501	0.933000	0.37362	0.524000	0.34500	4.663000	0.61532	2.437000	0.82529	0.655000	0.94253	CAC	MLXIP	-	NULL		0.642	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	C	NM_014938		122618282	1	no_errors	ENST00000319080	ensembl	human	known	70_37	missense	SNP	0.954	T	T	122618282	C	T	122618282	3	4	40	1	0	0	0	0	1	0	0	0	9659	594	21	4	1514	4	MLXIP	12	122618282	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	29332822	122618282	11233613	82	5718										
EP400	57634	genome.wustl.edu	37	chr12	132445333	132445333	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	caccccagtctcccagttatCaaatacagcagctgatgaat	6	13	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:132445333C>T	ENST00000333577.4	+	2	278	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	EP400_ENST00000332482.4_Nonsense_Mutation_p.Q57*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q57*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q57*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q57*			Q96L91	EP400_HUMAN	E1A binding protein p400	57					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q57E(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCAGTTATCAAATACAGCA	0.647																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											52	57	55					12																	132445333		2203	4300	6503	SO:0001587	stop_gained	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.169C>T	12.37:g.132445333C>T	ENSP00000333602:p.Gln57*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q57*	ENST00000333577.4	37	c.169		12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397646	0.83120	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	.	.	.	5.69	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.8182	0.70050	0.0:0.9305:0.0:0.0695	.	.	.	.	X	57	.	ENSP00000330620:Q57X	Q	+	1	0	EP400	131011286	1.000000	0.71417	0.922000	0.36590	0.163000	0.22366	7.465000	0.80898	1.413000	0.46997	0.563000	0.77884	CAA	EP400	-	NULL		0.647	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132445333	1	no_errors	ENST00000333577	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	132445333	C	T	132445333	4	4	40	1	0	0	0	0	0	1	0	0	5161	827	29	1	171	1	EP400	12	132445333	Nonsense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	9827051	132445333	1406562	83	5719										
MTMR6	9107	genome.wustl.edu	37	chr13	25840278	25840278	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttaaggtaccttgtagtcccGgttggcatcagacaactgcc	10	11	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:25840278G>C	ENST00000381801.5	-	4	1212	c.451C>G	c.(451-453)Cgg>Ggg	p.R151G	MTMR6_ENST00000540661.1_Missense_Mutation_p.R151G	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	151	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTGTAGTCCCGGTTGGCATCA	0.458																																																	0													89	78	82					13																	25840278		2203	4300	6503	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.451C>G	13.37:g.25840278G>C	ENSP00000371221:p.Arg151Gly		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat	p.R151G	ENST00000381801.5	37	c.451	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631377	0.28978	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.93247	-3.19;-3.19	5.54	1.61	0.23674	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.90198	3.095	0.53688	D	0.99997	B;B	0.17667	0.023;0.004	B;B	0.18263	0.021;0.007	D	0.88956	0.3390	10	0.62326	D	0.03	.	9.2658	0.37641	0.0652:0.0:0.565:0.3698	.	151;151	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	G	151	ENSP00000443161:R151G;ENSP00000371221:R151G	ENSP00000371221:R151G	R	-	1	2	MTMR6	24738278	1.000000	0.71417	0.765000	0.31456	0.493000	0.33554	3.065000	0.49994	0.264000	0.21851	0.650000	0.86243	CGG	MTMR6	-	NULL		0.458	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1	G	NM_004685		25840278	-1	no_errors	ENST00000381801	ensembl	human	known	70_37	missense	SNP	0.999	C	C	25840278	G	C	25840278	3	2	40	1	0	0	0	0	1	0	0	0	9970	1115	39	2	1458	2	MTMR6	13	25840278	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		25840278	89329600	84	5720										
ITGBL1	9358	genome.wustl.edu	37	chr13	102250542	102250542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cggaagatgtgactgcaaagCaggctggtatgggaagaagt	16	5	0	3	rs150262172	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:102250542C>T	ENST00000376180.3	+	7	1127	c.908C>T	c.(907-909)gCa>gTa	p.A303V	ITGBL1_ENST00000376162.3_Missense_Mutation_p.A210V|ITGBL1_ENST00000545560.2_Missense_Mutation_p.A162V	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	303	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACTGCAAAGCAGGCTGGTAT	0.473																																																	0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	157	132	141		908	-0.4	0.4	13	dbSNP_134	141	12,8588	9.1+/-34.3	0,12,4288	yes	missense	ITGBL1	NM_004791.1	64	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	benign	303/495	102250542	13,12993	2203	4300	6503	SO:0001583	missense	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.908C>T	13.37:g.102250542C>T	ENSP00000365351:p.Ala303Val		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.A303V	ENST00000376180.3	37	c.908	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	9.308	1.054928	0.19907	2.27E-4	0.001395	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.95821	-3.82;-3.82;-3.82	5.42	-0.424	0.12321	EGF, extracellular (1);Epidermal growth factor-like (1);	0.322570	0.35838	N	0.002957	D	0.90150	0.6922	L	0.46157	1.445	0.20196	N	0.999922	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.78929	-0.2010	10	0.31617	T	0.26	.	5.1507	0.15007	0.2028:0.3682:0.0:0.429	.	162;303	B3KTP1;O95965	.;ITGBL_HUMAN	V	303;211;162;162;210	ENSP00000365351:A303V;ENSP00000439903:A162V;ENSP00000365332:A210V	ENSP00000365332:A210V	A	+	2	0	ITGBL1	101048543	0.204000	0.23447	0.396000	0.26296	0.626000	0.37791	0.762000	0.26503	-0.094000	0.12374	-0.768000	0.03414	GCA	ITGBL1	-	pfam_EGF_extracell,smart_EG-like_dom		0.473	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	C	NM_004791		102250542	1	no_errors	ENST00000376180	ensembl	human	known	70_37	missense	SNP	0.144	T	T	102250542	C	T	102250542	3	4	40	1	0	0	0	0	1	0	0	0	7922	710	25	4	934	4	ITGBL1	13	102250542	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	76410264	102250542	12919336	85	5721										
COL4A2	1284	genome.wustl.edu	37	chr13	110960452	110960452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	acagtgaccgtggggttcctCgcccagagcgtcttggcggt	15	12	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:110960452C>T	ENST00000360467.5	+	3	387	c.81C>T	c.(79-81)ctC>ctT	p.L27L	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	27					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGGTTCCTCGCCCAGAGCG	0.647																																																	0													68	77	74					13																	110960452		2058	4183	6241	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.81C>T	13.37:g.110960452C>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L27	ENST00000360467.5	37	c.81	CCDS41907.1	13																																																																																			COL4A2	-	NULL		0.647	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		110960452	1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.152	T	T	110960452	C	T	110960452	2	4	40	1	0	0	0	0	0	0	0	1	3695	871	31	1		1	COL4A2	13	110960452	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	8709910	110960452	4209426	86	5722										
MYH6	4624	genome.wustl.edu	37	chr14	23866751	23866751	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gcacccctgggcccttcttaCccggtggagagccgacaccg	12	17	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:23866751C>A	ENST00000356287.3	-	15	1992		c.e15+1		MYH6_ENST00000405093.3_Splice_Site			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCTTCTTACCCGGTGGAGA	0.537																																																	0													80	77	78					14																	23866751		2203	4300	6503	SO:0001630	splice_region_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1962+1G>T	14.37:g.23866751C>A			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Splice_Site	SNP	-	e14+1	ENST00000356287.3	37	c.1962+1	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381440	0.82792	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8136	0.85727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH6	22936591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.136000	0.77285	2.387000	0.81309	0.655000	0.94253	.	MYH6	-	-		0.537	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C		Intron	23866751	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	23866751	C	A	23866751	5	1	40	1	0	0	0	0	0	0	1	0	10061	521	18	4	3952	4	MYH6	14	23866751	Splice_Site	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		23866751	83482789	87	5723										
DLGAP5	9787	genome.wustl.edu	37	chr14	55650384	55650384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctcgtttagctttctctctcTgctctttcaatttttgaagt	5	10	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:55650384T>C	ENST00000247191.2	-	3	542	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	DLGAP5_ENST00000395425.2_Missense_Mutation_p.Q109R	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	109					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTCTCTCTCTGCTCTTTCAA	0.368																																																	0													87	75	79					14																	55650384		2203	4299	6502	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.326A>G	14.37:g.55650384T>C	ENSP00000247191:p.Gln109Arg		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.Q109R	ENST00000247191.2	37	c.326	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433730	0.83776	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645;ENST00000554067	T;T;T;T	0.46063	2.35;2.35;2.35;0.88	5.55	5.55	0.83447	.	0.139018	0.50627	D	0.000104	T	0.62901	0.2466	M	0.76002	2.32	0.40126	D	0.976669	D;D	0.71674	0.998;0.997	D;D	0.65323	0.934;0.909	T	0.65742	-0.6094	10	0.46703	T	0.11	.	15.6662	0.77230	0.0:0.0:0.0:1.0	.	109;109	A8MTM6;Q15398	.;DLGP5_HUMAN	R	109	ENSP00000378815:Q109R;ENSP00000247191:Q109R;ENSP00000451747:Q109R;ENSP00000452168:Q109R	ENSP00000247191:Q109R	Q	-	2	0	DLGAP5	54720137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.830000	0.62745	2.243000	0.73865	0.533000	0.62120	CAG	DLGAP5	-	NULL		0.368	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	T	NM_014750		55650384	-1	no_errors	ENST00000247191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55650384	T	C	55650384	3	2	40	1	0	0	0	0	1	0	0	0	4573	1580	55	5	2377	5	DLGAP5	14	55650384	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	31783633	55650384	51699156	88	5724										
RHOJ	57381	genome.wustl.edu	37	chr14	63747800	63747800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	atgtccaggaggaatgggtcCccgagctcaaggactgcatg	14	10	1	0	rs141927241	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:63747800C>G	ENST00000316754.3	+	3	811	c.349C>G	c.(349-351)Ccc>Gcc	p.P117A	RHOJ_ENST00000555125.1_Missense_Mutation_p.P117A	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	117					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GGAATGGGTCCCCGAGCTCAA	0.552																																																	0								C	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	168	124	139		349	5.9	1	14	dbSNP_134	139	8,8592	6.4+/-24.3	0,8,4292	yes	missense	RHOJ	NM_020663.3	27	0,9,6494	GG,GC,CC		0.093,0.0227,0.0692	possibly-damaging	117/215	63747800	9,12997	2203	4300	6503	SO:0001583	missense	57381			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.349C>G	14.37:g.63747800C>G	ENSP00000316729:p.Pro117Ala		Q96KC1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P117A	ENST00000316754.3	37	c.349	CCDS9757.1	14	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921273	0.73213	2.27E-4	9.3E-4	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.75938	-0.98;-0.98	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.059385	0.64402	D	0.000002	T	0.74703	0.3751	M	0.79926	2.475	0.80722	D	1	P	0.41848	0.763	B	0.37015	0.239	T	0.79463	-0.1793	10	0.87932	D	0	.	13.4156	0.60966	0.0:0.9286:0.0:0.0714	.	117	Q9H4E5	RHOJ_HUMAN	A	117	ENSP00000316729:P117A;ENSP00000451643:P117A	ENSP00000316729:P117A	P	+	1	0	RHOJ	62817553	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	6.091000	0.71406	2.785000	0.95823	0.591000	0.81541	CCC	RHOJ	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.552	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	C			63747800	1	no_errors	ENST00000316754	ensembl	human	known	70_37	missense	SNP	0.999	G	G	63747800	C	G	63747800	3	3	40	1	0	0	0	0	1	0	0	0	13371	623	22	4	359	4	RHOJ	14	63747800	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	8097416	63747800	43601740	89	5725										
C14orf45	80127	genome.wustl.edu	37	chr14	74516643	74516643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gaaggacagggaaatgaatcGtgtgaagaagctggccaaga	15	5	0	4			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:74516643G>A	ENST00000394009.3	+	8	1154	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	CCDC176_ENST00000553773.1_Missense_Mutation_p.R69H|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	344					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											GAAATGAATCGTGTGAAGAAG	0.433																																																	0													120	110	113					14																	74516643		2203	4300	6503	SO:0001583	missense	80127			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1031G>A	14.37:g.74516643G>A	ENSP00000377577:p.Arg344His		Q0P604|Q9H5P8	Missense_Mutation	SNP	NULL	p.R344H	ENST00000394009.3	37	c.1031	CCDS32119.2	14	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215343	0.39102	.	.	ENSG00000119636	ENST00000394009;ENST00000553773	T;T	0.48836	2.07;0.8	5.66	4.77	0.60923	.	0.430844	0.26944	N	0.021701	T	0.44767	0.1309	L	0.55213	1.73	0.41997	D	0.990874	B	0.30211	0.273	B	0.26094	0.066	T	0.46569	-0.9182	10	0.62326	D	0.03	-7.9522	14.8795	0.70522	0.0691:0.0:0.9309:0.0	.	344	Q8ND07	CN045_HUMAN	H	344;69	ENSP00000377577:R344H;ENSP00000451097:R69H	ENSP00000377577:R344H	R	+	2	0	C14orf45	73586396	0.974000	0.33945	0.678000	0.29963	0.655000	0.38815	4.842000	0.62831	1.414000	0.47017	-0.272000	0.10252	CGT	CCDC176	-	NULL		0.433	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC176	HGNC	protein_coding	OTTHUMT00000327863.1	G	NM_025057		74516643	1	no_errors	ENST00000394009	ensembl	human	known	70_37	missense	SNP	0.934	A	A	74516643	G	A	74516643	3	1	40	1	0	0	0	0	1	0	0	0	1779	1145	40	2	1061	2	C14orf45	14	74516643	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	10768843	74516643	32832897	90	5726										
SERPINA3	12	genome.wustl.edu	37	chr14	95081252	95081252	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	aggttcacggaggatgccaaGaggctgtatggctccgaggc	16	9	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:95081252G>C	ENST00000467132.1	+	2	1622	c.474G>C	c.(472-474)aaG>aaC	p.K158N	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K158N|SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K158N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	158					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGATGCCAAGAGGCTGTATG	0.517																																																	0													75	69	71					14																	95081252		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.474G>C	14.37:g.95081252G>C	ENSP00000450540:p.Lys158Asn		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K183N	ENST00000467132.1	37	c.549	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732633	0.48939	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.13	0.902	0.19290	Serpin domain (3);	2.232540	0.02321	N	0.073000	D	0.89413	0.6708	M	0.63208	1.945	0.09310	N	1	P;P	0.52061	0.95;0.489	P;B	0.62298	0.9;0.213	T	0.71427	-0.4596	10	0.87932	D	0	.	3.7649	0.08619	0.3059:0.3912:0.3029:0.0	.	158;183	P01011;G3V5I3	AACT_HUMAN;.	N	183;158;158;158;158	ENSP00000452367:K183N;ENSP00000376793:K158N;ENSP00000376795:K158N;ENSP00000450540:K158N	ENSP00000376793:K158N	K	+	3	2	SERPINA3	94151005	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.688000	0.25422	0.625000	0.30304	0.561000	0.74099	AAG	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	G	NM_001085		95081252	1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	C	C	95081252	G	C	95081252	3	2	40	1	0	0	0	0	1	0	0	0	14120	933	33	1	476	1	SERPINA3	14	95081252	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	20564609	95081252	12268288	91	5727										
RCOR1	23186	genome.wustl.edu	37	chr14	103173771	103173771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tttacccctttcccagatgaGtggactgtggaagataaagt	10	8	0	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:103173771G>A	ENST00000570597.1	+	5	573	c.573G>A	c.(571-573)gaG>gaA	p.E191E	RCOR1_ENST00000262241.6_Silent_p.E194E			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	191	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCCAGATGAGTGGACTGTGG	0.388																																																	0													132	135	134					14																	103173771		2203	4300	6503	SO:0001819	synonymous_variant	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.573G>A	14.37:g.103173771G>A			Q15044|Q6P2I9|Q86VG5	Silent	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom	p.E194	ENST00000570597.1	37	c.582		14																																																																																			RCOR1	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.388	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding		G	NM_015156		103173771	1	no_errors	ENST00000262241	ensembl	human	known	70_37	silent	SNP	1.000	A	A	103173771	G	A	103173771	2	1	40	1	0	0	0	0	0	0	0	1	13212	1020	36	4		4	RCOR1	14	103173771	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	8092519	103173771	4175769	92	5728										
TRPM1	4308	genome.wustl.edu	37	chr15	31324907	31324907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctaaccatctttccaatcatCatcacgtatggccccagata	4	14	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:31324907C>T	ENST00000256552.6	-	22	3084	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.M957I|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.M996I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.M957I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAATCATCATCACGTATG	0.488																																																	1	Substitution - Missense(1)	breast(1)											112	106	108					15																	31324907		1988	4181	6169	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2937G>A	15.37:g.31324907C>T	ENSP00000256552:p.Met979Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.M996I	ENST00000256552.6	37	c.2988	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776123	0.90195	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74947	-0.89;-0.89;-0.89	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	N	0.10837	0.055	0.58432	D	0.999999	P;B	0.41929	0.765;0.27	B;B	0.40825	0.341;0.18	T	0.70680	-0.4805	10	0.87932	D	0	-41.7833	19.6018	0.95566	0.0:1.0:0.0:0.0	.	951;957	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	957;996;979;957	ENSP00000380897:M957I;ENSP00000437849:M996I;ENSP00000256552:M979I	ENSP00000256552:M979I	M	-	3	0	TRPM1	29112199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.704000	0.92352	0.643000	0.83706	ATG	TRPM1	-	pfam_Ion_trans_dom		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31324907	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31324907	C	T	31324907	3	4	40	1	0	0	0	0	1	0	0	0	16616	826	29	1	1968	1	TRPM1	15	31324907	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		31324907	71206485	93	5729										
FRMD5	84978	genome.wustl.edu	37	chr15	44202144	44202144	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cagaggagtcggccatggtaGagatcccttttgatctgcag	13	9	1	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:44202144G>C	ENST00000417257.1	-	5	539	c.363C>G	c.(361-363)ctC>ctG	p.L121L	FRMD5_ENST00000402883.1_Silent_p.L121L|FRMD5_ENST00000484674.1_Silent_p.L32L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGCCATGGTAGAGATCCCTTT	0.373											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													57	51	53					15																	44202144		2198	4298	6496	SO:0001819	synonymous_variant	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.363C>G	15.37:g.44202144G>C		922	Q8NBG4	Silent	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.L121	ENST00000417257.1	37	c.363	CCDS10107.2	15																																																																																			FRMD5	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.373	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	G	NM_032892		44202144	-1	no_errors	ENST00000417257	ensembl	human	known	70_37	silent	SNP	1.000	C	C	44202144	G	C	44202144	2	2	40	1	0	0	0	0	0	0	0	1	6071	929	33	1		1	FRMD5	15	44202144	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	12877237	44202144	58329248	94	5730										
SNUPN	10073	genome.wustl.edu	37	chr15	75897569	75897569	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cagtagaatcggaaatcagtCtgccacagagaagggaaaca	11	8	2	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:75897569C>G	ENST00000564644.1	-	8	1179		c.e8-1		SNUPN_ENST00000564675.1_Splice_Site|SNUPN_ENST00000567134.1_Splice_Site|SNUPN_ENST00000371091.5_Splice_Site|SNUPN_ENST00000308588.5_Splice_Site			O95149	SPN1_HUMAN	snurportin 1						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGAAATCAGTCTGCCACAGAG	0.363																																																	0													107	101	103					15																	75897569		2197	4294	6491	SO:0001630	splice_region_variant	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.601-1G>C	15.37:g.75897569C>G			A6NE34|A8K0B0|D3DW76	Splice_Site	SNP	-	e7-1	ENST00000564644.1	37	c.727-1	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	-	14.71	2.618104	0.46736	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5802	0.45250	0.0:0.8042:0.1958:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNUPN	73684624	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.939000	0.75911	2.425000	0.82216	0.531000	0.56144	.	SNUPN	-	-		0.363	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	C	NM_005701	Intron	75897569	-1	no_errors	ENST00000371091	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	75897569	C	G	75897569	5	3	40	1	0	0	0	0	0	0	1	0	14907	927	32	1	494	1	SNUPN	15	75897569	Splice_Site	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	31695425	75897569	26633823	95	5731										
TPSG1	8912	genome.wustl.edu	37	chr16	1274609	1274609	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gtcagagacgtacctggctgCaaagtcctgagggacacacc	12	12	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:1274609C>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.L22F|TPSB2_ENST00000339687.6_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TACCTGGCTGCAAAGTCCTGA	0.672																																																	0													84	81	82					16																	1274609		2199	4300	6499	SO:0001628	intergenic_variant	25823			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1274609C>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L22F	ENST00000348261.5	37	c.66	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	2.282	-0.364504	0.05103	.	.	ENSG00000116176	ENST00000234798	D	0.93547	-3.24	1.83	-2.13	0.07144	.	.	.	.	.	T	0.80358	0.4608	N	0.19112	0.55	0.09310	N	1	P	0.50617	0.937	B	0.39706	0.307	T	0.76013	-0.3114	9	0.09338	T	0.73	.	0.4211	0.00456	0.2495:0.3085:0.2477:0.1943	.	22	Q9NRR2	TRYG1_HUMAN	F	22	ENSP00000234798:L22F	ENSP00000234798:L22F	L	-	3	2	TPSG1	1214610	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.929000	0.01558	-0.558000	0.06118	0.491000	0.48974	TTG	TPSG1	-	NULL		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1274609	-1	no_errors	ENST00000234798	ensembl	human	known	70_37	missense	SNP	0.010	A	A	1274609	C	A	1274609	1	1	40	0	1	0	0	0	0	0	0	0	16457	709	25	4		4	TPSG1	16	1274609	IGR	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		1274609	89080144	96	5732										
PDILT	204474	genome.wustl.edu	37	chr16	20371898	20371898	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gttgccccttacctcatcctCatcctcaatcttagttttga	4	14	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:20371898C>T	ENST00000302451.4	-	11	1746	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	500					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCTCATCCTCATCCTCAATC	0.443																																																	0													245	221	229					16																	20371898		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1498G>A	16.37:g.20371898C>T	ENSP00000305465:p.Glu500Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E500K	ENST00000302451.4	37	c.1498	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688595	0.48097	.	.	ENSG00000169340	ENST00000302451	T	0.03242	4.0	4.58	3.63	0.41609	.	0.232512	0.43416	D	0.000568	T	0.02304	0.0071	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47407	-0.9120	10	0.11182	T	0.66	.	8.8645	0.35278	0.0:0.9001:0.0:0.0999	.	500	Q8N807	PDILT_HUMAN	K	500	ENSP00000305465:E500K	ENSP00000305465:E500K	E	-	1	0	PDILT	20279399	0.012000	0.17670	0.043000	0.18650	0.654000	0.38779	0.424000	0.21330	1.530000	0.49136	0.650000	0.86243	GAG	PDILT	-	NULL		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20371898	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.052	T	T	20371898	C	T	20371898	3	4	40	1	0	0	0	0	1	0	0	0	11698	835	29	1	264	1	PDILT	16	20371898	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	19097289	20371898	69982855	97	5733										
THUMPD1	55623	genome.wustl.edu	37	chr16	20752961	20752961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gctctagctgacggggcccgCcagcgtcgcagcgccgagcg	16	16	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:20752961C>A	ENST00000381337.2	-	1	445	c.101G>T	c.(100-102)gGc>gTc	p.G34V	AC004381.7_ENST00000565498.1_RNA|THUMPD1_ENST00000431224.2_Missense_Mutation_p.G120V|THUMPD1_ENST00000396083.2_Missense_Mutation_p.G34V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	34							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACGGGGCCCGCCAGCGTCGCA	0.657																																																	0													12	12	12					16																	20752961		2192	4289	6481	SO:0001583	missense	55623			BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.101G>T	16.37:g.20752961C>A	ENSP00000370741:p.Gly34Val		Q9BWC3	Missense_Mutation	SNP	pfam_THUMP,smart_THUMP,pfscan_THUMP	p.G120V	ENST00000381337.2	37	c.359	CCDS10588.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111330	0.77210	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.49139	0.82;0.79;0.82	5.63	4.67	0.58626	.	0.116646	0.37809	N	0.001925	T	0.39253	0.1071	L	0.44542	1.39	0.58432	D	0.999999	P	0.42785	0.79	B	0.40782	0.34	T	0.17992	-1.0351	10	0.35671	T	0.21	.	9.4619	0.38789	0.0:0.7771:0.1452:0.0777	.	34	Q9NXG2	THUM1_HUMAN	V	34;120;34	ENSP00000370741:G34V;ENSP00000392282:G120V;ENSP00000379392:G34V	ENSP00000370741:G34V	G	-	2	0	THUMPD1	20660462	0.040000	0.19996	0.996000	0.52242	0.996000	0.88848	0.276000	0.18716	1.355000	0.45865	0.637000	0.83480	GGC	THUMPD1	-	NULL		0.657	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD1	HGNC	protein_coding	OTTHUMT00000254420.1	C	NM_017736		20752961	-1	no_errors	ENST00000431224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20752961	C	A	20752961	3	1	40	1	0	0	0	0	1	0	0	0	15912	739	26	4	976	4	THUMPD1	16	20752961	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	381063	20752961	69601792	98	5734										
MMP2	4313	genome.wustl.edu	37	chr16	55516942	55516942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gacaggtgatcttgaccagaAtaccatcgagaccatgcgga	11	10	1	4			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:55516942A>G	ENST00000219070.4	+	2	784	c.275A>G	c.(274-276)aAt>aGt	p.N92S	MMP2_ENST00000437642.2_Missense_Mutation_p.N42S|MMP2_ENST00000543485.1_Missense_Mutation_p.N16S|MMP2_ENST00000570308.1_Missense_Mutation_p.N16S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	92					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CTTGACCAGAATACCATCGAG	0.537																																																	0													128	120	123					16																	55516942		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.275A>G	16.37:g.55516942A>G	ENSP00000219070:p.Asn92Ser		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.N92S	ENST00000219070.4	37	c.275	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	A	2.159	-0.392648	0.04899	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.78816	-1.21;-1.21;-1.21	5.05	-4.58	0.03410	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.826765	0.11156	N	0.593618	T	0.56702	0.2003	L	0.28192	0.835	0.27241	N	0.959159	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49551	-0.8928	10	0.07325	T	0.83	.	9.8024	0.40773	0.7631:0.103:0.1339:0.0	.	42;92	E9PE45;P08253	.;MMP2_HUMAN	S	92;16;42	ENSP00000219070:N92S;ENSP00000444143:N16S;ENSP00000394237:N42S	ENSP00000219070:N92S	N	+	2	0	MMP2	54074443	0.002000	0.14202	0.715000	0.30552	0.764000	0.43329	0.228000	0.17814	-0.914000	0.03827	-0.467000	0.05162	AAT	MMP2	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.537	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	A			55516942	1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.868	G	G	55516942	A	G	55516942	3	3	40	1	0	0	0	0	1	0	0	0	9681	101	4	5	288	5	MMP2	16	55516942	Missense_Mutation	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	34763981	55516942	34837811	99	5735										
FUK	197258	genome.wustl.edu	37	chr16	70506932	70506932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cgctgcccgcagagtactgcCttcccagcgcccgcctcttt	9	19	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:70506932C>T	ENST00000288078.6	+	15	1685	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	FUK_ENST00000378912.2_Missense_Mutation_p.L517F|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	485						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGAGTACTGCCTTCCCAGCGC	0.647																																																	0													12	17	15					16																	70506932		2000	4162	6162	SO:0001583	missense	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1453C>T	16.37:g.70506932C>T	ENSP00000288078:p.Leu485Phe		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.L517F	ENST00000288078.6	37	c.1549	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745104	0.69418	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.61274	0.12;0.12	5.84	4.89	0.63831	L-fucokinase (1);	0.070968	0.56097	N	0.000022	T	0.72953	0.3525	M	0.71581	2.175	0.80722	D	1	D;B	0.89917	1.0;0.413	D;B	0.97110	1.0;0.219	T	0.75789	-0.3194	10	0.87932	D	0	-14.8253	11.0283	0.47757	0.0:0.8587:0.0:0.1413	.	517;485	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	F	485;517	ENSP00000288078:L485F;ENSP00000368192:L517F	ENSP00000288078:L485F	L	+	1	0	FUK	69064433	1.000000	0.71417	0.049000	0.19019	0.697000	0.40408	3.901000	0.56303	1.488000	0.48433	0.655000	0.94253	CTT	FUK	-	pfam_Fucokinase		0.647	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	C	NM_145059		70506932	1	no_errors	ENST00000378912	ensembl	human	known	70_37	missense	SNP	0.810	T	T	70506932	C	T	70506932	3	4	40	1	0	0	0	0	1	0	0	0	6114	681	24	4	1507	4	FUK	16	70506932	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	14989990	70506932	19847821	100	5736										
JPH3	57338	genome.wustl.edu	37	chr16	87723265	87723265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	catacagggctggagtaccaGaggccgaagcgtcagacctc	13	12	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:87723265G>C	ENST00000284262.2	+	4	1541	c.1299G>C	c.(1297-1299)caG>caC	p.Q433H	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	433					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGGAGTACCAGAGGCCGAAGC	0.672																																																	0													36	27	30					16																	87723265		2194	4299	6493	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1299G>C	16.37:g.87723265G>C	ENSP00000284262:p.Gln433His		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.Q433H	ENST00000284262.2	37	c.1299	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373671	0.61624	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51817	0.69	4.48	4.48	0.54585	.	0.137892	0.50627	D	0.000112	T	0.57961	0.2089	L	0.57536	1.79	0.58432	D	0.999996	D	0.61697	0.99	P	0.57776	0.827	T	0.61783	-0.6992	10	0.66056	D	0.02	.	11.7767	0.51989	0.0887:0.0:0.9113:0.0	.	433	Q8WXH2	JPH3_HUMAN	H	296;433	ENSP00000284262:Q433H	ENSP00000284262:Q433H	Q	+	3	2	JPH3	86280766	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	5.235000	0.65348	2.050000	0.60909	0.655000	0.94253	CAG	JPH3	-	pirsf_Junctophilin		0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	G			87723265	1	no_errors	ENST00000284262	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87723265	G	C	87723265	3	2	40	1	0	0	0	0	1	0	0	0	7982	933	33	1	1313	1	JPH3	16	87723265	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	17216333	87723265	2631488	101	5737										
KIF1C	10749	genome.wustl.edu	37	chr17	4925967	4925967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gctgcaggccctgcgggaccGcatgctccgcatggagaggg	17	13	0	1	rs146628704	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:4925967G>A	ENST00000320785.5	+	22	2948	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	864					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTGCGGGACCGCATGCTCCGC	0.637																																					Melanoma(96;1023 1447 10250 19259 33730)												0								G	HIS/ARG	0,4404		0,0,2202	21	22	21		2591	4.4	1	17	dbSNP_134	21	4,8596	3.7+/-12.6	0,4,4296	no	missense	KIF1C	NM_006612.5	29	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	864/1104	4925967	4,13000	2202	4300	6502	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2591G>A	17.37:g.4925967G>A	ENSP00000320821:p.Arg864His		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R864H	ENST00000320785.5	37	c.2591	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117202	0.77323	0.0	4.65E-4	ENSG00000129250	ENST00000320785	T	0.74421	-0.84	4.4	4.4	0.53042	.	.	.	.	.	T	0.70378	0.3217	L	0.39898	1.24	0.35868	D	0.828017	D	0.67145	0.996	P	0.46320	0.512	T	0.79869	-0.1621	9	0.66056	D	0.02	.	14.5209	0.67849	0.0:0.0:1.0:0.0	.	864	O43896	KIF1C_HUMAN	H	864	ENSP00000320821:R864H	ENSP00000320821:R864H	R	+	2	0	KIF1C	4866691	0.009000	0.17119	1.000000	0.80357	0.999000	0.98932	1.013000	0.29937	2.285000	0.76669	0.655000	0.94253	CGC	KIF1C	-	NULL		0.637	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	G			4925967	1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4925967	G	A	4925967	3	1	40	1	0	0	0	0	1	0	0	0	8305	1087	38	2	2669	2	KIF1C	17	4925967	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		4925967	76269243	102	5738										
MYO15A	51168	genome.wustl.edu	37	chr17	18025405	18025405	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ttggcgcccatcagggccccAgagcccctgcccaagggggg	15	16	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:18025405A>C	ENST00000205890.5	+	2	3629	c.3291A>C	c.(3289-3291)ccA>ccC	p.P1097P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1097					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGGGCCCCAGAGCCCCTGC	0.677																																																	0													38	44	42					17																	18025405		1920	4114	6034	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3291A>C	17.37:g.18025405A>C			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.P1097	ENST00000205890.5	37	c.3291	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	A	NM_016239		18025405	1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.001	C	C	18025405	A	C	18025405	2	2	40	1	0	0	0	0	0	0	0	1	10086	175	7	5		5	MYO15A	17	18025405	Silent	SNP	A	TCGA-C5-A3HL-01A-11D-A20U-09	13099438	18025405	63169805	103	5739										
UNC45B	146862	genome.wustl.edu	37	chr17	33496889	33496889	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tcggctctgcaggtggcacaGactacggtctcaggcagttt	13	11	2	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:33496889G>T	ENST00000268876.5	+	11	1583	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y	UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000394570.2_Missense_Mutation_p.D496Y|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.D496Y|UNC45B_ENST00000591048.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	496			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D496H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGCACAGACTACGGTCT	0.562																																																	1	Substitution - Missense(1)	breast(1)											84	74	77					17																	33496889		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1486G>T	17.37:g.33496889G>T	ENSP00000268876:p.Asp496Tyr		Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D496Y	ENST00000268876.5	37	c.1486	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512546	0.85389	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.32988	1.43;3.48;1.43	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69168	-0.5216	10	0.87932	D	0	-34.1167	17.5697	0.87931	0.0:0.0:1.0:0.0	.	496;496	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	Y	496	ENSP00000378071:D496Y;ENSP00000268876:D496Y;ENSP00000412840:D496Y	ENSP00000268876:D496Y	D	+	1	0	UNC45B	30521002	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	9.601000	0.98297	2.710000	0.92621	0.655000	0.94253	GAC	UNC45B	-	superfamily_ARM-type_fold		0.562	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	G	NM_173167		33496889	1	no_errors	ENST00000268876	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33496889	G	T	33496889	3	4	40	1	0	0	0	0	1	0	0	0	17020	942	33	3	1524	3	UNC45B	17	33496889	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	15471484	33496889	47698321	104	5740										
SLFN13	146857	genome.wustl.edu	37	chr17	33768937	33768937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tgcagcctccaaggcctctgCgctgctctcaggactcaggc	11	16	3	0	rs114866073	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:33768937C>T	ENST00000285013.6	-	5	1842	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T	SLFN13_ENST00000542635.1_Missense_Mutation_p.A523T|SLFN13_ENST00000534689.1_Missense_Mutation_p.A205T|SLFN13_ENST00000526861.1_Missense_Mutation_p.A523T|SLFN13_ENST00000533791.1_Missense_Mutation_p.A523T|SLFN13_ENST00000360502.2_Missense_Mutation_p.A205T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	523						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGGCCTCTGCGCTGCTCTCA	0.592																																																	0													15	14	14					17																	33768937		2200	4272	6472	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1567G>A	17.37:g.33768937C>T	ENSP00000285013:p.Ala523Thr		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.A523T	ENST00000285013.6	37	c.1567	CCDS32620.1	17	511	0.23397435897435898	153	0.31097560975609756	97	0.26795580110497236	158	0.2762237762237762	103	0.1358839050131926	t	3.896	-0.022924	0.07634	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03441	4.52;3.93;4.52;4.52;3.93	2.49	-4.45	0.03546	.	1.478210	0.04431	N	0.369240	T	0.00012	0.0000	N	0.25890	0.77	0.80722	P	0.0	B;B	0.24533	0.038;0.105	B;B	0.16722	0.016;0.006	T	0.48490	-0.9031	9	0.17369	T	0.5	.	4.1525	0.10245	0.0:0.3414:0.1819:0.4767	.	205;523	Q68D06-2;Q68D06	.;SLN13_HUMAN	T	523;205;523;523;205	ENSP00000285013:A523T;ENSP00000353692:A205T;ENSP00000434439:A523T;ENSP00000444016:A523T;ENSP00000435442:A205T	ENSP00000285013:A523T	A	-	1	0	SLFN13	30793050	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.966000	0.00670	-0.874000	0.04027	-2.696000	0.00138	GCA	SLFN13	-	NULL		0.592	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	C	NM_144682		33768937	-1	no_errors	ENST00000285013	ensembl	human	known	70_37	missense	SNP	0.000	T	T	33768937	C	T	33768937	3	4	40	1	0	0	0	0	1	0	0	0	14766	768	27	2	1134	2	SLFN13	17	33768937	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	272048	33768937	47426273	105	5741										
STAT3	6774	genome.wustl.edu	37	chr17	40500481	40500481	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctgtcactgtagagctgatgGagctgctccaggtaccgtgt	13	10	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:40500481G>C	ENST00000264657.5	-	2	366	c.54C>G	c.(52-54)ctC>ctG	p.L18L	STAT3_ENST00000588969.1_Silent_p.L18L|STAT3_ENST00000404395.3_Silent_p.L18L|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000585517.1_Silent_p.L18L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	18					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGAGCTGATGGAGCTGCTCCA	0.502									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													103	96	98					17																	40500481		2203	4300	6503	SO:0001819	synonymous_variant	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.54C>G	17.37:g.40500481G>C			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L18	ENST00000264657.5	37	c.54	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.502	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	G	NM_139276, NM_003150		40500481	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	silent	SNP	0.010	C	C	40500481	G	C	40500481	2	2	40	1	0	0	0	0	0	0	0	1	15296	1161	41	1		1	STAT3	17	40500481	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	6731544	40500481	40694729	106	5742										
RAMP2	10266	genome.wustl.edu	37	chr17	40914699	40914699	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	aatcccttggcagagaggatCatctttgagactcaccagat	9	10	3	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:40914699C>T	ENST00000253796.5	+	4	425	c.357C>T	c.(355-357)atC>atT	p.I119I	RAMP2_ENST00000589683.1_Silent_p.I44I|RAMP2_ENST00000587142.1_Silent_p.I124I|RAMP2_ENST00000588576.1_Missense_Mutation_p.S83L|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	119					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CAGAGAGGATCATCTTTGAGA	0.562																																																	0													108	92	97					17																	40914699		2203	4300	6503	SO:0001819	synonymous_variant	10266			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"Receptor (G protein-coupled) activity modifying proteins"	9844	protein-coding gene	gene with protein product		605154	"receptor activity modifying protein 2", "receptor (calcitonin) activity modifying protein 2"				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.357C>T	17.37:g.40914699C>T			A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	NULL	p.S83L	ENST00000253796.5	37	c.248	CCDS11437.1	17																																																																																			RAMP2	-	NULL		0.562	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1	C	NM_005854		40914699	1	no_errors	ENST00000588576	ensembl	human	putative	70_37	missense	SNP	0.996	T	T	40914699	C	T	40914699	2	4	40	1	0	0	0	0	0	0	0	1	13052	816	29	1		1	RAMP2	17	40914699	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	414218	40914699	40280511	107	5743										
ANKRD12	23253	genome.wustl.edu	37	chr18	9255252	9255252	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agcataaagagagggaaaaaGaaaagcataaaaaagaaatt	9	2	0	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr18:9255252G>T	ENST00000262126.4	+	9	2227	c.1987G>T	c.(1987-1989)Gaa>Taa	p.E663*	ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E640*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E640*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	663						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						gagggaaaaagaaaagcataa	0.299																																																	0													42	47	45					18																	9255252		2192	4281	6473	SO:0001587	stop_gained	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1987G>T	18.37:g.9255252G>T	ENSP00000262126:p.Glu663*		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E663*	ENST00000262126.4	37	c.1987	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.724038	0.97792	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	.	.	.	5.06	5.06	0.68205	.	0.119181	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.1496	18.7884	0.91964	0.0:0.0:1.0:0.0	.	.	.	.	X	640;663;370	.	ENSP00000262126:E663X	E	+	1	0	ANKRD12	9245252	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.311000	0.96282	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255252	1	no_errors	ENST00000262126	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	9255252	G	T	9255252	4	4	40	1	0	0	0	0	0	1	0	0	640	943	33	3	2017	3	ANKRD12	18	9255252	Nonsense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		9255252	68821996	108	5744										
ANKRD12	23253	genome.wustl.edu	37	chr18	9255426	9255426	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	aacatgaatccttaacattaGaaaaaaaatcaaaattggaa	4	5	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr18:9255426G>C	ENST00000262126.4	+	9	2401	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E698Q|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E698Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTAACATTAGAAAAAAAATC	0.289																																																	0													28	30	29					18																	9255426		2143	4226	6369	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2161G>C	18.37:g.9255426G>C	ENSP00000262126:p.Glu721Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E721Q	ENST00000262126.4	37	c.2161	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253554	0.39797	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92397	-3.03;-3.03	5.06	5.06	0.68205	.	0.331509	0.30528	N	0.009436	D	0.94640	0.8272	L	0.57536	1.79	0.36889	D	0.889782	D;D;P	0.76494	0.999;0.996;0.935	D;P;P	0.65443	0.935;0.892;0.575	D	0.94400	0.7622	10	0.29301	T	0.29	-14.4551	18.7884	0.91964	0.0:0.0:1.0:0.0	.	348;698;721	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	698;721;428;16	ENSP00000372932:E698Q;ENSP00000262126:E721Q	ENSP00000262126:E721Q	E	+	1	0	ANKRD12	9245426	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	5.303000	0.65738	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255426	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255426	G	C	9255426	3	2	40	1	0	0	0	0	1	0	0	0	640	943	33	1	2191	1	ANKRD12	18	9255426	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	174	9255426	68821822	109	5745										
MAST1	1777	genome.wustl.edu	37	chr19	12984741	12984741	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	caagagtgccgagccccctcGctcgccgctcctcaagcgcg	11	19	1	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:12984741G>A	ENST00000222219.3	-	0	1955				MAST1_ENST00000251472.4_Missense_Mutation_p.R1257H|AC020934.1_ENST00000578125.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GAGCCCCCTCGCTCGCCGCTC	0.682																																																	0													10	11	11					19																	12984741		2195	4280	6475	SO:0001628	intergenic_variant	22983			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984741G>A			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.R1257H	ENST00000222219.3	37	c.3770	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	g	29.7	5.028132	0.93518	.	.	ENSG00000105613	ENST00000251472	T	0.52057	0.68	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76170	2.325	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.73154	-0.4072	10	0.87932	D	0	-26.8549	15.807	0.78520	0.0:0.0:1.0:0.0	.	1257	Q9Y2H9	MAST1_HUMAN	H	1257	ENSP00000251472:R1257H	ENSP00000251472:R1257H	R	+	2	0	MAST1	12845741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.809000	0.86057	2.402000	0.81655	0.552000	0.68991	CGC	MAST1	-	NULL		0.682	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	G			12984741	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12984741	G	A	12984741	1	1	40	0	1	0	0	0	0	0	0	0	9347	1087	38	2		2	MAST1	19	12984741	IGR	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		12984741	46144242	110	5746										
KIAA0892	23383	genome.wustl.edu	37	chr19	19453623	19453623	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	atgcaggccggctacctggaGaaggcgcagaagtacacgga	15	10	0	2	rs375842161		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:19453623G>A	ENST00000392313.6	+	9	1100	c.921G>A	c.(919-921)gaG>gaA	p.E307E	MAU2_ENST00000262815.8_Silent_p.E307E	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	307					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCTACCTGGAGAAGGCGCAGA	0.642											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G		0,4260		0,0,2130	117	126	123		921	3	1	19		123	1,8477		0,1,4238	no	coding-synonymous	MAU2	NM_015329.3		0,1,6368	AA,AG,GG		0.0118,0.0,0.0079		307/614	19453623	1,12737	2130	4239	6369	SO:0001819	synonymous_variant	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.921G>A	19.37:g.19453623G>A		733	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.E307	ENST00000392313.6	37	c.921	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor		0.642	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	G	NM_015329		19453623	1	no_errors	ENST00000262815	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19453623	G	A	19453623	2	1	40	1	0	0	0	0	0	0	0	1	8216	933	33	1		1	KIAA0892	19	19453623	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	6468882	19453623	39675360	111	5747										
ZNF829	374899	genome.wustl.edu	37	chr19	37406814	37406814	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggggcccaaggcgccagctcCccatcggtcttcggtatcct	12	16	1	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:37406814C>T	ENST00000391711.3	-	1	281				ZNF829_ENST00000520965.1_Missense_Mutation_p.G15R|ZNF568_ENST00000455427.2_5'Flank|ZNF568_ENST00000427117.1_5'Flank|ZNF568_ENST00000333987.7_5'Flank|ZNF568_ENST00000415168.1_5'Flank	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCGCCAGCTCCCCATCGGTCT	0.602																																																	0																																										SO:0001627	intron_variant	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.83+98G>A	19.37:g.37406814C>T			Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G15R	ENST00000391711.3	37	c.43	CCDS42557.1	19																																																																																			ZNF829	-	NULL		0.602	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	C	NM_001037232		37406814	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	missense	SNP	0.000	T	T	37406814	C	T	37406814	1	4	40	0	1	0	0	0	0	0	0	0	18212	632	22	4		4	ZNF829	19	37406814	Intron	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	17953191	37406814	21722169	112	5748										
FAM98C	147965	genome.wustl.edu	37	chr19	38899501	38899502	+	In_Frame_Ins	INS	-	-	AAG													0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gcccccagtgttggggtcgcINSaagaagaagaagaagaagta					rs372349446|rs59917662|rs142977446	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:38899501_38899502insAAG	ENST00000252530.5	+	8	1048_1049	c.1029_1030insAAG	c.(1030-1032)aag>AAGaag	p.344_344K>KK	FAM98C_ENST00000343358.7_In_Frame_Ins_p.262_262K>KK|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	344										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTGGGGTCGCAAGAAGAAGAA	0.609														468	0.0934505	0.1241	0.1023	5008	,	,		11811	0.1984		0.0149	False		,,,				2504	0.0184																0																																										SO:0001652	inframe_insertion	147965				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1045_1047dupAAG	19.37:g.38899508_38899510dupAAG	ENSP00000252530:p.Lys349dup		A6NMW3|Q66K45	In_Frame_Ins	INS	pfam_Uncharacterised_FAM98	p.347in_frame_insK	ENST00000252530.5	37	c.1029_1030	CCDS42562.1	19																																																																																			FAM98C	-	NULL		0.609	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	-	NM_174905		38899502	1	no_errors	ENST00000252530	ensembl	human	known	70_37	in_frame_ins	INS	0.117:0.830	AAG	AAG	38899502	-	AAG	38899501	7	5	40	1	0	1	1	0	0	0	0	0	5676	697	25	0	1059	0	FAM98C	19	38899501	In_Frame_Ins	INS	-	TCGA-C5-A3HL-01A-11D-A20U-09	1492687	38899501	20229482	113	5749										
LRRC4B	94030	genome.wustl.edu	37	chr19	51022613	51022613	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tcgatcttgcgcaccaggttCttgctcagctgcagaatctc	9	13	4	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:51022613C>T	ENST00000599957.1	-	3	554	c.357G>A	c.(355-357)aaG>aaA	p.K119K	LRRC4B_ENST00000389201.3_Silent_p.K119K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	119					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACCAGGTTCTTGCTCAGCT	0.617																																																	0													35	37	37					19																	51022613		2129	4255	6384	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.357G>A	19.37:g.51022613C>T			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K119	ENST00000599957.1	37	c.357	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	C	NM_001080457		51022613	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51022613	C	T	51022613	2	4	40	1	0	0	0	0	0	0	0	1	9030	912	32	1		1	LRRC4B	19	51022613	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	12123112	51022613	8106370	114	5750										
KLK2	3817	genome.wustl.edu	37	chr19	51380002	51380002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cctcaggctggggcagcatcGaaccagaggagtgtacgcct	14	12	1	1	rs371591640		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:51380002G>A	ENST00000325321.3	+	3	706	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_Missense_Mutation_p.E59K|KLK2_ENST00000358049.4_Missense_Mutation_p.E161K			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGCAGCATCGAACCAGAGGA	0.642			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	41	41	41		481,481	-6	0	19		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KLK2	NM_001002231.1,NM_005551.3	56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	161/224,161/262	51380002	2,13004	2203	4300	6503	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.481G>A	19.37:g.51380002G>A	ENSP00000313581:p.Glu161Lys		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E161K	ENST00000325321.3	37	c.481	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461142	0.12342	2.27E-4	1.16E-4	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	D;D;D	0.88354	-2.37;-2.37;-2.37	3.01	-6.02	0.02192	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.262420	0.02598	N	0.100780	T	0.76154	0.3948	N	0.20574	0.59	0.09310	N	1	B;B;B	0.18166	0.026;0.011;0.008	B;B;B	0.13407	0.009;0.002;0.002	T	0.70353	-0.4895	10	0.06365	T	0.9	.	7.4518	0.27242	0.1921:0.4951:0.3128:0.0	.	144;161;161	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	K	161;161;59	ENSP00000313581:E161K;ENSP00000350748:E161K;ENSP00000375686:E59K	ENSP00000313581:E161K	E	+	1	0	KLK2	56071814	.	.	0.000000	0.03702	0.105000	0.19272	.	.	-1.938000	0.01046	-0.714000	0.03626	GAA	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.642	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	G	NM_005551.3		51380002	1	no_errors	ENST00000325321	ensembl	human	known	70_37	missense	SNP	0.000	A	A	51380002	G	A	51380002	3	1	40	1	0	0	0	0	1	0	0	0	8424	1059	37	1	491	1	KLK2	19	51380002	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	357389	51380002	7748981	115	5751										
ZNF677	342926	genome.wustl.edu	37	chr19	53741588	53741588	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tattatgttgttgatcttttCtgtgagtgagatttttgtta	9	2	2	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:53741588C>G	ENST00000598513.1	-	5	542	c.392G>C	c.(391-393)aGa>aCa	p.R131T	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.R131T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R131K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358																																																	1	Substitution - Missense(1)	urinary_tract(1)											147	141	143					19																	53741588		2203	4299	6502	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.392G>C	19.37:g.53741588C>G	ENSP00000469391:p.Arg131Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R131T	ENST00000598513.1	37	c.392	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	C	7.207	0.594595	0.13875	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07688	3.17	2.29	2.29	0.28610	.	0.775970	0.10693	N	0.644974	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.46850	0.529	T	0.37820	-0.9689	10	0.27785	T	0.31	.	10.6967	0.45903	0.0:1.0:0.0:0.0	.	131	Q86XU0	ZN677_HUMAN	T	131	ENSP00000334394:R131T	ENSP00000334394:R131T	R	-	2	0	ZNF677	58433400	0.000000	0.05858	0.090000	0.20809	0.074000	0.17049	-0.097000	0.11042	1.592000	0.50018	0.655000	0.94253	AGA	ZNF677	-	NULL		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	C	NM_182609		53741588	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.118	G	G	53741588	C	G	53741588	3	3	40	1	0	0	0	0	1	0	0	0	18114	913	32	1	1366	1	ZNF677	19	53741588	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	2361586	53741588	5387395	116	5752										
TMC2	117532	genome.wustl.edu	37	chr20	2539295	2539295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	caggagcggggcgaggcagaGaggacctgcgagggcaggag	22	8	0	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr20:2539295G>C	ENST00000358864.1	+	3	291	c.276G>C	c.(274-276)gaG>gaC	p.E92D		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	92	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCGAGGCAGAGAGGACCTGCG	0.677																																																	0													24	25	24					20																	2539295		2190	4289	6479	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.276G>C	20.37:g.2539295G>C	ENSP00000351732:p.Glu92Asp		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.E92D	ENST00000358864.1	37	c.276	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	g	10.06	1.245736	0.22796	.	.	ENSG00000149488	ENST00000358864	T	0.50548	0.74	4.29	-0.12	0.13539	.	0.894418	0.09648	N	0.774014	T	0.38931	0.1059	L	0.59436	1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31024	-0.9958	10	0.32370	T	0.25	-3.2075	5.2672	0.15605	0.1984:0.3549:0.4467:0.0	.	92;92	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	D	92	ENSP00000351732:E92D	ENSP00000351732:E92D	E	+	3	2	TMC2	2487295	0.016000	0.18221	0.007000	0.13788	0.005000	0.04900	0.445000	0.21677	-0.073000	0.12842	-0.323000	0.08544	GAG	TMC2	-	NULL		0.677	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2539295	1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.041	C	C	2539295	G	C	2539295	3	2	40	1	0	0	0	0	1	0	0	0	16015	933	33	1	286	1	TMC2	20	2539295	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		2539295	60486225	117	5753										
PTPRT	11122	genome.wustl.edu	37	chr20	40735447	40735447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tctgtctgtaccaggttgacCctttgggcccggagctcacg	12	13	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr20:40735447C>A	ENST00000373187.1	-	24	3368	c.3369G>T	c.(3367-3369)agG>agT	p.R1123S	PTPRT_ENST00000373198.4_Missense_Mutation_p.R1142S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1126S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1133S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1122S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1113S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1132S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1123	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAGGTTGACCCTTTGGGCCC	0.557																																																	0													103	115	111					20																	40735447		2100	4225	6325	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3369G>T	20.37:g.40735447C>A	ENSP00000362283:p.Arg1123Ser		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1145S	ENST00000373187.1	37	c.3435	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909672	0.72983	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.41	2.43	0.29744	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90670	0.4597	10	0.87932	D	0	.	10.2661	0.43455	0.0:0.7863:0.0:0.2137	.	1145;1123	O14522-1;O14522	.;PTPRT_HUMAN	S	1122;1123;1126;1132;1145;1133;1113	ENSP00000362286:R1122S;ENSP00000362283:R1123S;ENSP00000362289:R1126S;ENSP00000348408:R1132S;ENSP00000362294:R1145S;ENSP00000362280:R1133S;ENSP00000362297:R1113S	ENSP00000348408:R1132S	R	-	3	2	PTPRT	40168861	0.557000	0.26546	1.000000	0.80357	0.983000	0.72400	-0.165000	0.09968	0.782000	0.33613	0.591000	0.81541	AGG	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40735447	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	0.999	A	A	40735447	C	A	40735447	3	1	40	1	0	0	0	0	1	0	0	0	12842	622	22	4	988	4	PTPRT	20	40735447	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	38196152	40735447	22290073	118	5754										
MYT1	4661	genome.wustl.edu	37	chr20	62867944	62867944	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	agagcaacctttgctggaaaGaagggaaaactgtcagggga	14	6	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr20:62867944G>A	ENST00000328439.1	+	20	3298	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	MYT1_ENST00000536311.1_Silent_p.K1005K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGGAAAGAAGGGAAAAC	0.557																																					GBM(59;481 1041 20555 21139 33705)												0													150	128	136					20																	62867944		2203	4299	6502	SO:0001819	synonymous_variant	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2934G>A	20.37:g.62867944G>A			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K1005	ENST00000328439.1	37	c.3015	CCDS13558.1	20																																																																																			MYT1	-	NULL		0.557	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	G	NM_004535		62867944	1	no_errors	ENST00000536311	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62867944	G	A	62867944	2	1	40	1	0	0	0	0	0	0	0	1	10129	933	33	1		1	MYT1	20	62867944	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	22132497	62867944	157576	119	5755										
GAB4	128954	genome.wustl.edu	37	chr22	17444720	17444720	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggaaatgcagatgccgggttCtgctgtcacaaggaggaaaa	14	7	2	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:17444720C>T	ENST00000400588.1	-	9	1584		c.e9-1			NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATGCCGGGTTCTGCTGTCACA	0.592																																																	0													38	44	42					22																	17444720		1993	4196	6189	SO:0001630	splice_region_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1477-1G>A	22.37:g.17444720C>T				Splice_Site	SNP	-	e9-1	ENST00000400588.1	37	c.1477-1	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	2.020	-0.424854	0.04734	.	.	ENSG00000215568	ENST00000400588	.	.	.	2.29	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4797	0.16717	0.0:0.161:0.0:0.839	.	.	.	.	.	-1	.	.	.	-	.	.	GAB4	15824720	1.000000	0.71417	0.884000	0.34674	0.010000	0.07245	4.001000	0.57046	0.308000	0.22923	-0.490000	0.04691	.	GAB4	-	-		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	C	XM_372882	Intron	17444720	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	17444720	C	T	17444720	5	4	40	1	0	0	0	0	0	0	1	0	6169	927	32	1	256	1	GAB4	22	17444720	Splice_Site	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09		17444720	33859846	120	5756										
GSTT2	2953	genome.wustl.edu	37	chr22	24325062	24325062	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ccactctctgcccccatcagGtgttggggccactcattggg	11	15	3	0	rs2301423	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:24325062G>A	ENST00000215780.5	+	4	402	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	GSTT2_ENST00000402588.3_Splice_Site_p.V118M|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	118	GST C-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						CCCCCATCAGGTGTTGGGGCC	0.607																																																	0								G	MET/VAL	149,4255		2,145,2055	51	48	49		352	0.6	0	22	dbSNP_131	49	1352,7244		45,1262,2991	no	missense-near-splice	GSTT2	NM_000854.3	21	47,1407,5046	AA,AG,GG		15.7282,3.3833,11.5462	possibly-damaging	118/245	24325062	1501,11499	2202	4298	6500	SO:0001630	splice_region_variant	2953			L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"Glutathione S-transferases / Soluble"	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.352-1G>A	22.37:g.24325062G>A			O60665|P30712|Q6IPV7|Q9HD76	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.V118M	ENST00000215780.5	37	c.352	CCDS13821.1	22	350	0.16025641025641027	4	0.008130081300813009	52	0.143646408839779	167	0.291958041958042	127	0.16754617414248021	g	7.443	0.641125	0.14386	0.033833	0.157282	ENSG00000099984	ENST00000215780;ENST00000402588	T;T	0.18810	2.19;2.19	1.71	0.639	0.17747	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.686514	0.13739	N	0.366086	T	0.00012	0.0000	L	0.52905	1.665	0.49130	P	2.4500000000005073E-4	D;P	0.76494	0.999;0.907	P;B	0.57846	0.828;0.408	T	0.28870	-1.0030	8	.	.	.	-14.4526	4.1421	0.10198	0.2239:0.0:0.7761:0.0	.	118;118	B5MCL2;P0CG29	.;GST2_HUMAN	M	118	ENSP00000215780:V118M;ENSP00000385765:V118M	.	V	+	1	0	GSTT2	22655062	0.240000	0.23847	0.016000	0.15963	0.391000	0.30476	-0.244000	0.08903	0.321000	0.23259	0.385000	0.25706	GTG	GSTT2	-	superfamily_Glutathione-S-Trfase_C-like		0.607	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2	HGNC	protein_coding	OTTHUMT00000320080.1	G	NM_000854	Missense_Mutation	24325062	1	no_errors	ENST00000215780	ensembl	human	known	70_37	missense	SNP	0.104	A	A	24325062	G	A	24325062	5	1	40	1	0	0	0	0	0	0	1	0	6866	1275	44	4	1121	4	GSTT2	22	24325062	Splice_Site	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	6880342	24325062	26979504	121	5757										
INPP5J	27124	genome.wustl.edu	37	chr22	31522641	31522641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ctcaacaagcgactcaaggaCgccctcttcacggaccagtg	9	15	4	0			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:31522641C>T	ENST00000331075.5	+	4	1477	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	INPP5J_ENST00000405300.1_Silent_p.D109D|INPP5J_ENST00000400294.2_Silent_p.D109D|INPP5J_ENST00000404390.3_Silent_p.D108D|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_Silent_p.D409D|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000402238.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	476	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GACTCAAGGACGCCCTCTTCA	0.617																																																	0													163	168	166					22																	31522641		2088	4214	6302	SO:0001819	synonymous_variant	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1428C>T	22.37:g.31522641C>T			B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.D476	ENST00000331075.5	37	c.1428		22																																																																																			INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.617	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	C	NM_001002837		31522641	1	no_errors	ENST00000331075	ensembl	human	known	70_37	silent	SNP	0.967	T	T	31522641	C	T	31522641	2	4	40	1	0	0	0	0	0	0	0	1	7779	535	19	2		2	INPP5J	22	31522641	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	7197579	31522641	19781925	122	5758										
GTPBP1	9567	genome.wustl.edu	37	chr22	39112087	39112087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggagacaatgacttcctggaGgtcaggtgaggaggccgcgg	18	8	1	3			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:39112087G>A	ENST00000216044.5	+	3	713	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	160	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACTTCCTGGAGGTCAGGTGAG	0.592																																																	0													51	43	46					22																	39112087		2199	4293	6492	SO:0001819	synonymous_variant	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.480G>A	22.37:g.39112087G>A			Q6IC67	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.E160	ENST00000216044.5	37	c.480	CCDS13977.2	22																																																																																			GTPBP1	-	NULL		0.592	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286		39112087	1	no_errors	ENST00000216044	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39112087	G	A	39112087	2	1	40	1	0	0	0	0	0	0	0	1	6898	991	35	4		4	GTPBP1	22	39112087	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	7589446	39112087	12192479	123	5759										
ATF4	468	genome.wustl.edu	37	chr22	39917549	39917549	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gctgaagaaagcctaggtctCttagatgattacctggaggt	12	7	1	4			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:39917549C>G	ENST00000337304.2	+	1	981	c.99C>G	c.(97-99)ctC>ctG	p.L33L	ATF4_ENST00000396680.1_Silent_p.L33L|ATF4_ENST00000404241.2_Silent_p.L33L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	33					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GCCTAGGTCTCTTAGATGATT	0.567																																																	0													64	63	63					22																	39917549		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.99C>G	22.37:g.39917549C>G			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L33	ENST00000337304.2	37	c.99	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.567	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917549	1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	G	G	39917549	C	G	39917549	2	3	40	1	0	0	0	0	0	0	0	1	1083	900	32	1		1	ATF4	22	39917549	Silent	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	805462	39917549	11387017	124	5760										
ASMTL	8623	genome.wustl.edu	37	chrX	1551173	1551173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	gagactcacatgggctccccGctgtggacgtattcccagag	12	13	1	2			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:1551173G>A	ENST00000381317.3	-	6	530	c.498C>T	c.(496-498)agC>agT	p.S166S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S90S|ASMTL_ENST00000381333.4_Silent_p.S150S|ASMTL_ENST00000534940.1_Silent_p.S108S	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	166	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.S166S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGGCTCCCCGCTGTGGACGT	0.632													g|||	59	0.0117812	8e-04	0.0173	5008	,	,		13382	0		0.0408	False		,,,				2504	0.0051																1	Substitution - coding silent(1)	pancreas(1)						G	,,	22,3860		0,22,1919	103	106	105		324,450,498	-1.3	1	X	dbSNP_134	105	309,7933		8,293,3820	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	8,315,5739	AA,AG,GG		3.7491,0.5667,2.7301	,,	108/564,150/606,166/622	1551173	331,11793	1941	4121	6062	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.498C>T	X.37:g.1551173G>A			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.S166	ENST00000381317.3	37	c.498	CCDS43917.1	X																																																																																			ASMTL	-	pfam_Maf,tigrfam_Maf		0.632	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1551173	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	silent	SNP	0.996	A	A	1551173	G	A	1551173	2	1	40	1	0	0	0	0	0	0	0	1	1047	1078	38	2		2	ASMTL	23	1551173	Silent	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09		1551173	153719387	125	5761										
P2RY8	286530	genome.wustl.edu	37	chrX	1585079	1585079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	ggagctgagcgggtacaggaCccccaggaagcgctccacgc	15	14	0	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:1585079C>T	ENST00000381297.4	-	2	583	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGTACAGGACCCCCAGGAAG	0.647			T	CRLF2	"B-ALL, Downs associated ALL"								c|||	657	0.13119	0.2254	0.1527	5008	,	,		17726	0.004		0.171	False		,,,				2504	0.0787							Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0								C	ILE/VAL	1033,3371		112,809,1281	85	83	84		373	2.3	1	X	dbSNP_134	84	1622,6968		157,1308,2830	no	missense	P2RY8	NM_178129.4	29	269,2117,4111	TT,TC,CC		18.8824,23.4559,20.4325	possibly-damaging	125/360	1585079	2655,10339	2202	4295	6497	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.373G>A	X.37:g.1585079C>T	ENSP00000370697:p.Val125Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.V125I	ENST00000381297.4	37	c.373	CCDS14115.1	X	293	0.13415750915750915	103	0.20934959349593496	57	0.1574585635359116	1	0.0017482517482517483	132	0.1741424802110818	c	0.231	-1.020709	0.02061	0.234559	0.188824	ENSG00000182162	ENST00000381297	T	0.65364	-0.15	2.26	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.086698	0.46442	U	0.000296	T	0.00012	0.0000	N	0.12569	0.235	0.09310	N	1	P	0.43169	0.8	B	0.39660	0.306	T	0.00617	-1.1642	10	0.23891	T	0.37	.	12.6106	0.56547	0.0:1.0:0.0:0.0	.	125	Q86VZ1	P2RY8_HUMAN	I	125	ENSP00000370697:V125I	ENSP00000370697:V125I	V	-	1	0	P2RY8	1545079	1.000000	0.71417	0.954000	0.39281	0.305000	0.27757	3.923000	0.56469	0.740000	0.32651	0.279000	0.19357	GTC	P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.647	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	C	NM_178129		1585079	-1	no_errors	ENST00000381297	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1585079	C	T	1585079	3	4	40	1	0	0	0	0	1	0	0	0	11379	507	18	4	710	4	P2RY8	23	1585079	Missense_Mutation	SNP	C	TCGA-C5-A3HL-01A-11D-A20U-09	33906	1585079	153685481	126	5762										
CXorf59	286464	genome.wustl.edu	37	chrX	36091445	36091445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	tctctttggctggcctgaagGaccccattctttttctattc	7	12	3	1			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:36091445G>A	ENST00000313548.4	+	4	566	c.380G>A	c.(379-381)gGa>gAa	p.G127E		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	127						integral component of membrane (GO:0016021)		p.G127>?(1)									TGGCCTGAAGGACCCCATTCT	0.388																																																	1	Complex(1)	skin(1)											97	88	91					X																	36091445		2202	4300	6502	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.380G>A	X.37:g.36091445G>A	ENSP00000324767:p.Gly127Glu			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.G127E	ENST00000313548.4	37	c.380	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350034	0.41599	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.09	4.23	0.50019	.	0.105237	0.33364	N	0.004997	T	0.49677	0.1571	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35919	-0.9769	9	0.87932	D	0	-9.7758	8.3893	0.32518	0.1111:0.0:0.8889:0.0	.	127	Q8N9S7	CX059_HUMAN	E	127	.	ENSP00000324767:G127E	G	+	2	0	CXorf59	36001366	1.000000	0.71417	0.107000	0.21349	0.520000	0.34377	4.987000	0.63857	0.929000	0.37192	0.529000	0.55759	GGA	CXorf59	-	NULL		0.388	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf59	HGNC	protein_coding		G	NM_173695		36091445	1	no_errors	ENST00000313548	ensembl	human	known	70_37	missense	SNP	0.389	A	A	36091445	G	A	36091445	3	1	40	1	0	0	0	0	1	0	0	0	4120	1174	41	1	390	1	CXorf59	23	36091445	Missense_Mutation	SNP	G	TCGA-C5-A3HL-01A-11D-A20U-09	34506366	36091445	119179115	127	5763										
F8	2157	genome.wustl.edu	37	chrX	154158428	154158428	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.28125	36	8.653385435286e-09	2.81350661542524	4.23385174253604	2.31853785900783	0.115135787399177	0.298083700299342	23	cttttctatttcttcctgaaTttttttttcttgattgtgtg	5	6	3	2	rs387906450		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:154158428T>A	ENST00000360256.4	-	14	3837	c.3637A>T	c.(3637-3639)Att>Ttt	p.I1213F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328																																																	0			GRCh37	CD930955	F8	D							26	25	25					X																	154158428		2203	4294	6497	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3637A>T	X.37:g.154158428T>A	ENSP00000353393:p.Ile1213Phe		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I1213F	ENST00000360256.4	37	c.3637	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	t	0.954	-0.705549	0.03255	.	.	ENSG00000185010	ENST00000360256	D	0.99042	-5.36	5.73	-7.73	0.01245	.	1.046320	0.07435	N	0.896337	D	0.94042	0.8091	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.90432	0.4425	10	0.11485	T	0.65	0.0311	1.7252	0.02920	0.2552:0.0978:0.1546:0.4924	.	1213	P00451	FA8_HUMAN	F	1213	ENSP00000353393:I1213F	ENSP00000353393:I1213F	I	-	1	0	F8	153811622	0.001000	0.12720	0.000000	0.03702	0.227000	0.25037	-0.596000	0.05720	-1.221000	0.02591	-1.246000	0.01523	ATT	F8	-	NULL		0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	T			154158428	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.000	A	A	154158428	T	A	154158428	3	1	40	1	0	0	0	0	1	0	0	0	5362	1493	52	5	3498	5	F8	23	154158428	Missense_Mutation	SNP	T	TCGA-C5-A3HL-01A-11D-A20U-09	118066983	154158428	1112132	128	5764										
SSBP3	23648	genome.wustl.edu	37	chr1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ccgagggcaccgccgagcctTtgcctttggcaaacatggtt	12	13	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R|SSBP3_ENST00000417664.2_5'Flank	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																																	0													4	5	5					1																	54871665		2079	4010	6089	SO:0001583	missense	23648				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.K6R	ENST00000371320.3	37	c.17	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA	SSBP3	-	NULL		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1	T	NM_018070		54871665	-1	no_errors	ENST00000371320	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54871665	T	C	54871665	3	2	41	1	0	0	0	0	1	0	0	0	15211	1841	64	5	1221	5	SSBP3	1	54871665	Missense_Mutation	SNP	T	TCGA-C5-A7CG-01A-11D-A32I-09		54871665	194378956	1	5765										
SYT6	148281	genome.wustl.edu	37	chr1	114640467	114640467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cttcagcagtgatccccacaCgacagactcctatgatctca	6	15	2	3	rs148168972		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:114640467C>T	ENST00000610222.1	-	6	1543	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	SYT6_ENST00000393296.1_Missense_Mutation_p.R466H|SYT6_ENST00000607941.1_Missense_Mutation_p.R381H|SYT6_ENST00000609117.1_Missense_Mutation_p.R381H|SYT6_ENST00000369547.1_Missense_Mutation_p.R381H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	466	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCCCCACACGACAGACTCC	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		19786	0		0	False		,,,				2504	0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100	91	94		1142	5.4	0.9	1	dbSNP_134	94	0,8600		0,0,4300	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	381/426	114640467	1,13005	2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1397G>A	1.37:g.114640467C>T	ENSP00000476396:p.Arg466His		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.R466H	ENST00000610222.1	37	c.1397		1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573939	0.65765	2.27E-4	0.0	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.45581	1.43	0.80722	D	1	D;P	0.55385	0.971;0.758	P;B	0.48425	0.577;0.104	T	0.58578	-0.7612	10	0.14656	T	0.56	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	466;381	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	H	381;466;381;466	ENSP00000358560:R381H;ENSP00000376974:R466H;ENSP00000358559:R381H;ENSP00000358558:R466H	ENSP00000358558:R466H	R	-	2	0	SYT6	114441990	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.780000	0.85658	2.512000	0.84698	0.462000	0.41574	CGT	SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.577	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	C	NM_205848		114640467	-1	no_errors	ENST00000369545	ensembl	human	known	70_37	missense	SNP	0.998	T	T	114640467	C	T	114640467	3	4	41	1	0	0	0	0	1	0	0	0	15508	536	19	2	143	2	SYT6	1	114640467	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	59768802	114640467	134610154	2	5766										
RIT1	6016	genome.wustl.edu	37	chr1	155874117	155874117	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ctcacctgtcttagctgtttGaggtctgacttgtttcccac	8	12	3	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:155874117G>T	ENST00000368323.3	-	5	618	c.414C>A	c.(412-414)ctC>ctA	p.L138L	RIT1_ENST00000368322.3_Silent_p.L155L|RIT1_ENST00000539040.1_Silent_p.L102L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	138					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TTAGCTGTTTGAGGTCTGACT	0.393																																																	0													112	100	104					1																	155874117		2203	4300	6503	SO:0001819	synonymous_variant	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.414C>A	1.37:g.155874117G>T			B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L138	ENST00000368323.3	37	c.414	CCDS1123.1	1																																																																																			RIT1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.393	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	G	NM_006912		155874117	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	silent	SNP	0.006	T	T	155874117	G	T	155874117	2	4	41	1	0	0	0	0	0	0	0	1	13416	1277	45	3		3	RIT1	1	155874117	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	41233650	155874117	93376504	3	5767										
INSRR	3645	genome.wustl.edu	37	chr1	156811515	156811515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ggactcgggggccatccagcGcacgggcagcagccccttcc	14	17	0	0	rs201172210		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:156811515G>A	ENST00000368195.3	-	20	3865	c.3469C>T	c.(3469-3471)Cgc>Tgc	p.R1157C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCATCCAGCGCACGGGCAGC	0.627																																																	0								G	,CYS/ARG	0,4406		0,0,2203	79	75	77		,3469	5.1	1	1		77	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,probably-damaging	,1157/1298	156811515	3,13003	2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3469C>T	1.37:g.156811515G>A	ENSP00000357178:p.Arg1157Cys		O60724|Q5VZS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1157C	ENST00000368195.3	37	c.3469	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885533	0.72410	0.0	3.49E-4	ENSG00000027644	ENST00000368195	D	0.83755	-1.76	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.88746	0.6520	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89679	0.3889	9	0.87932	D	0	.	12.2864	0.54795	0.0:0.0:0.8305:0.1695	.	1157	P14616	INSRR_HUMAN	C	1157	ENSP00000357178:R1157C	ENSP00000357178:R1157C	R	-	1	0	INSRR	155078139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.247000	0.58750	2.639000	0.89480	0.561000	0.74099	CGC	INSRR	-	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,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156811515	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156811515	G	A	156811515	3	1	41	1	0	0	0	0	1	0	0	0	7794	1087	38	2	435	2	INSRR	1	156811515	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	937398	156811515	92439106	4	5768										
CFHR5	81494	genome.wustl.edu	37	chr1	196971786	196971786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	acgatggcaatcattaccacGctgtgttggttagtagttta	10	7	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:196971786G>A	ENST00000256785.4	+	8	1431	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R465H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	441	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R441L(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCATTACCACGCTGTGTTGGT	0.328																																																	1	Substitution - Missense(1)	lung(1)											73	77	76					1																	196971786		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1322G>A	1.37:g.196971786G>A	ENSP00000256785:p.Arg441His		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R465H	ENST00000256785.4	37	c.1394	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197922	0.22037	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65178	-0.14;-0.14	3.62	-7.24	0.01475	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46112	0.1376	L	0.49699	1.58	0.09310	N	1	P	0.37398	0.593	B	0.32533	0.147	T	0.23940	-1.0174	9	0.27785	T	0.31	.	9.4208	0.38550	0.2949:0.0:0.5898:0.1153	.	441	Q9BXR6	FHR5_HUMAN	H	465;441	ENSP00000356384:R465H;ENSP00000256785:R441H	ENSP00000256785:R441H	R	+	2	0	CFHR5	195238409	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.605000	0.00889	-2.581000	0.00462	-3.254000	0.00050	CGC	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.328	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196971786	1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196971786	G	A	196971786	3	1	41	1	0	0	0	0	1	0	0	0	3293	1087	38	2	1352	2	CFHR5	1	196971786	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	40160271	196971786	52278835	5	5769										
TGFB2	7042	genome.wustl.edu	37	chr1	218520199	218520200	+	Frame_Shift_Ins	INS	-	-	C													0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gcaagctgaagctcaccagtINScccccagaagactatcctga							TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr1:218520199_218520200insC	ENST00000366930.4	+	1	623_624	c.156_157insC	c.(157-159)cccfs	p.P53fs	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Frame_Shift_Ins_p.P53fs	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	53					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCTCACCAGTCCCCCAGAAGA	0.599																																																	0																																										SO:0001589	frameshift_variant	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.161dupC	1.37:g.218520204_218520204dupC	ENSP00000355897:p.Pro53fs		B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Frame_Shift_Ins	INS	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb2,prints_TGF-beta	p.E54fs	ENST00000366930.4	37	c.156_157	CCDS1521.1	1																																																																																			TGFB2	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb2		0.599	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2	-	NM_003238		218520200	1	no_errors	ENST00000366929	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	218520200	-	C	218520199	7	5	41	1	0	1	1	0	0	0	0	0	15848	1664	58	0	158	0	TGFB2	1	218520199	Frame_Shift_Ins	INS	-	TCGA-C5-A7CG-01A-11D-A32I-09	21548413	218520199	30730422	6	5770										
BIRC6	57448	genome.wustl.edu	37	chr2	32740651	32740651	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cttctgtttttattgtgtcaCtctgggtccacttctggaag	9	9	4	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr2:32740651C>G	ENST00000421745.2	+	55	11297	c.11163C>G	c.(11161-11163)caC>caG	p.H3721Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3721					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATTGTGTCACTCTGGGTCCA	0.433																																					Pancreas(94;175 1509 16028 18060 45422)												0													121	108	113					2																	32740651		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11163C>G	2.37:g.32740651C>G	ENSP00000393596:p.His3721Gln		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.H3721Q	ENST00000421745.2	37	c.11163	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838360	0.51057	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.5	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.44542	1.39	0.53688	D	0.999977	D	0.53885	0.963	P	0.46796	0.527	T	0.65919	-0.6051	10	0.62326	D	0.03	.	6.993	0.24765	0.0:0.5366:0.0:0.4634	.	3721	Q9NR09	BIRC6_HUMAN	Q	3721	ENSP00000393596:H3721Q	ENSP00000393596:H3721Q	H	+	3	2	BIRC6	32594155	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.191000	0.32138	0.701000	0.31803	0.585000	0.79938	CAC	BIRC6	-	NULL		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32740651	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	0.999	G	G	32740651	C	G	32740651	3	3	41	1	0	0	0	0	1	0	0	0	1439	564	20	4	11381	4	BIRC6	2	32740651	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		32740651	210458722	7	5771										
LRP1B	53353	genome.wustl.edu	37	chr2	141625763	141625763	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tctttatagatggtttttctCccagcaccactcatagaggc	7	11	3	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr2:141625763C>T	ENST00000389484.3	-	26	5210	c.4239G>A	c.(4237-4239)ggG>ggA	p.G1413G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1413					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTTTTCTCCCAGCACCAC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													101	97	99					2																	141625763		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4239G>A	2.37:g.141625763C>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G1413	ENST00000389484.3	37	c.4239	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141625763	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	silent	SNP	0.023	T	T	141625763	C	T	141625763	2	4	41	1	0	0	0	0	0	0	0	1	8978	842	30	1		1	LRP1B	2	141625763	Silent	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	108885112	141625763	101573610	8	5772										
NBEAL2	23218	genome.wustl.edu	37	chr3	47037080	47037080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	accctatggatacagcacctAcccctgcccccacccgacca	5	21	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr3:47037080A>G	ENST00000450053.3	+	13	2034	c.1855A>G	c.(1855-1857)Acc>Gcc	p.T619A	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T619A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	619					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACAGCACCTACCCCTGCCCC	0.632																																																	0													39	43	42					3																	47037080		2066	4201	6267	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1855A>G	3.37:g.47037080A>G	ENSP00000415034:p.Thr619Ala		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T619A	ENST00000450053.3	37	c.1855	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	A	0.363	-0.938219	0.02340	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.73363	-0.74;-0.74	4.53	0.292	0.15737	Concanavalin A-like lectin/glucanase (1);	1.082790	0.06966	N	0.817168	T	0.55257	0.1909	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	10	0.15499	T	0.54	.	4.3709	0.11247	0.2241:0.3621:0.4138:0.0	.	585;619	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	A	619;619;585	ENSP00000292309:T619A;ENSP00000415034:T619A	ENSP00000292309:T619A	T	+	1	0	NBEAL2	47012084	0.002000	0.14202	0.002000	0.10522	0.067000	0.16453	1.243000	0.32767	-0.052000	0.13311	-0.242000	0.12053	ACC	NBEAL2	-	superfamily_ConA-like_lec_gl_sf		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	A	XM_291064		47037080	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.004	G	G	47037080	A	G	47037080	3	3	41	1	0	0	0	0	1	0	0	0	10212	391	14	5	1905	5	NBEAL2	3	47037080	Missense_Mutation	SNP	A	TCGA-C5-A7CG-01A-11D-A32I-09		47037080	150985350	9	5773										
TRPC3	7222	genome.wustl.edu	37	chr4	122872779	122872779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ccctcgtcttcctcctcctcCggcgccgggaaggtcaccct	9	20	2	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr4:122872779C>T	ENST00000379645.3	-	1	130	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTCCTCCTCCGGCGCCGGGA	0.741																																																	0													7	9	8					4																	122872779		689	1579	2268	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.57G>A	4.37:g.122872779C>T			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P19	ENST00000379645.3	37	c.57	CCDS47130.1	4																																																																																			TRPC3	-	NULL		0.741	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122872779	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	0.981	T	T	122872779	C	T	122872779	2	4	41	1	0	0	0	0	0	0	0	1	16610	639	23	2		2	TRPC3	4	122872779	Silent	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		122872779	68281497	10	5774										
FBXW7	55294	genome.wustl.edu	37	chr4	153268138	153268138	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tggctggacagatgtaattcGgcgtcgttgttgcccttggc	14	9	0	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr4:153268138G>A	ENST00000281708.4	-	4	1899	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R144*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R224*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R48*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R106*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R224*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	224					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R224*(5)|p.R106*(1)|p.R144*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GATGTAATTCGGCGTCGTTGT	0.448			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	8	Substitution - Nonsense(7)|Unknown(1)	endometrium(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(1)											193	178	183					4																	153268138		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.670C>T	4.37:g.153268138G>A	ENSP00000281708:p.Arg224*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R224*	ENST00000281708.4	37	c.670	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.218578	0.97385	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.83	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-13.0477	9.5051	0.39042	0.0666:0.0:0.6691:0.2643	.	.	.	.	X	224;106;144;48	.	ENSP00000263981:R144X	R	-	1	2	FBXW7	153487588	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.504000	0.60414	0.338000	0.23692	-0.309000	0.09137	CGA	FBXW7	-	NULL		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153268138	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	153268138	G	A	153268138	4	1	41	1	0	0	0	0	0	1	0	0	5787	1124	39	2	1489	2	FBXW7	4	153268138	Nonsense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	30395359	153268138	37886138	11	5775										
FAT1	2195	genome.wustl.edu	37	chr4	187554882	187554882	+	Frame_Shift_Del	DEL	G	G	-													0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	atctgtagcctcgactgtgaGgttgtagtttgacttctgtt							TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr4:187554882delG	ENST00000441802.2	-	7	4488	c.4279delC	c.(4279-4281)ctcfs	p.L1427fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1427	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGACTGTGAGGTTGTAGTTT	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													264	251	256					4																	187554882		2004	4173	6177	SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4279delC	4.37:g.187554882delG	ENSP00000406229:p.Leu1427fs			Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1427fs	ENST00000441802.2	37	c.4279	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187554882	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	187554882	G	-	187554882	7	5	41	1	0	1	0	1	0	0	0	0	5707	1000	35	0	9571	0	FAT1	4	187554882	Frame_Shift_Del	DEL	G	TCGA-C5-A7CG-01A-11D-A32I-09	34286744	187554882	3599394	12	5776										
NUP155	9631	genome.wustl.edu	37	chr5	37307504	37307504	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ttttctctgcagccgtaagaGaaagttccaccacaccctca	6	14	2	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr5:37307504G>C	ENST00000231498.3	-	25	3001	c.2798C>G	c.(2797-2799)tCt>tGt	p.S933C	NUP155_ENST00000513532.1_Missense_Mutation_p.S869C|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.S874C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	933					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCGTAAGAGAAAGTTCCAC	0.408																																																	0													90	84	86					5																	37307504		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2798C>G	5.37:g.37307504G>C	ENSP00000231498:p.Ser933Cys		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.S933C	ENST00000231498.3	37	c.2798	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683873	0.29872	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75367	-0.86;-0.86;-0.93	5.46	5.46	0.80206	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045414	0.85682	D	0.000000	T	0.44973	0.1319	N	0.01267	-0.92	0.42502	D	0.992934	B;B	0.13594	0.008;0.001	B;B	0.18871	0.023;0.002	T	0.51741	-0.8667	10	0.06757	T	0.87	-3.2625	14.8689	0.70441	0.0:0.1431:0.8569:0.0	.	869;933	E9PF10;O75694	.;NU155_HUMAN	C	933;874;895;869	ENSP00000231498:S933C;ENSP00000371265:S874C;ENSP00000422019:S869C	ENSP00000231498:S933C	S	-	2	0	NUP155	37343261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.788000	0.75105	2.567000	0.86603	0.655000	0.94253	TCT	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C		0.408	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	G	NM_153485, NM_004298		37307504	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37307504	G	C	37307504	3	2	41	1	0	0	0	0	1	0	0	0	10780	942	33	1	1421	1	NUP155	5	37307504	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		37307504	143607756	13	5777										
GZMA	3001	genome.wustl.edu	37	chr5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	catgctatgacccagccacaCgcgaaggtgaccttaaactt	8	13	0	2	rs150441571	byFrequency	TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													C|||	2	0.000399361	0.0015	0	5008	,	,		17112	0		0	False		,,,				2504	0																0								C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	123	118	120		331	2.6	0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	GZMA	NM_006144.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	111/263	54403737	7,12999	2203	4300	6503	SO:0001583	missense	3001				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.331C>T	5.37:g.54403737C>T	ENSP00000274306:p.Arg111Cys		A4PHN1|Q6IB36	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R111C	ENST00000274306.6	37	c.331	CCDS3965.1	5	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218927	0.39201	0.001589	0.0	ENSG00000145649	ENST00000274306	D	0.88664	-2.41	5.5	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840125	0.11103	N	0.599416	D	0.86393	0.5922	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	P	0.48304	0.573	T	0.75508	-0.3293	10	0.40728	T	0.16	.	5.8772	0.18836	0.3972:0.4552:0.0:0.1476	.	111	P12544	GRAA_HUMAN	C	111	ENSP00000274306:R111C	ENSP00000274306:R111C	R	+	1	0	GZMA	54439494	0.000000	0.05858	0.027000	0.17364	0.004000	0.04260	-0.070000	0.11523	0.870000	0.35726	0.655000	0.94253	CGC	GZMA	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.443	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2	C	NM_006144		54403737	1	no_errors	ENST00000274306	ensembl	human	known	70_37	missense	SNP	0.022	T	T	54403737	C	T	54403737	3	4	41	1	0	0	0	0	1	0	0	0	6935	536	19	2	341	2	GZMA	5	54403737	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	17096233	54403737	126511523	14	5778										
MAP1B	4131	genome.wustl.edu	37	chr5	71493117	71493117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	agttgaagaacattgtgctaGtcctgaggacaagactctgg	12	7	1	4			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr5:71493117G>T	ENST00000296755.7	+	5	4233	c.3935G>T	c.(3934-3936)aGt>aTt	p.S1312I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1312					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTGTGCTAGTCCTGAGGAC	0.502																																					Melanoma(17;367 822 11631 31730 47712)												0													57	53	54					5																	71493117		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3935G>T	5.37:g.71493117G>T	ENSP00000296755:p.Ser1312Ile		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.S1312I	ENST00000296755.7	37	c.3935	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508976	0.64410	.	.	ENSG00000131711	ENST00000296755	T	0.05580	3.42	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.00521	-1.1691	10	0.87932	D	0	-11.8777	20.1772	0.98182	0.0:0.0:1.0:0.0	.	1186;1312	A2BDK6;P46821	.;MAP1B_HUMAN	I	1312	ENSP00000296755:S1312I	ENSP00000296755:S1312I	S	+	2	0	MAP1B	71528873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.778000	0.95560	0.655000	0.94253	AGT	MAP1B	-	NULL		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71493117	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71493117	G	T	71493117	3	4	41	1	0	0	0	0	1	0	0	0	9251	1029	36	4	3953	4	MAP1B	5	71493117	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	17089380	71493117	109422143	15	5779										
PPARD	5467	genome.wustl.edu	37	chr6	35393787	35393787	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cacgcccagatgatgcagcgGatcaagaagaccgaaaccga	11	12	1	4			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:35393787G>T	ENST00000311565.4	+	9	1606	c.1257G>T	c.(1255-1257)cgG>cgT	p.R419R	PPARD_ENST00000540939.1_Silent_p.R316R|PPARD_ENST00000360694.3_Silent_p.R419R|PPARD_ENST00000418635.2_Silent_p.R321R|PPARD_ENST00000448077.2_Silent_p.R380R	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	419	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGATGCAGCGGATCAAGAAGA	0.602																																																	0													104	88	94					6																	35393787		2203	4300	6503	SO:0001819	synonymous_variant	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1257G>T	6.37:g.35393787G>T			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt	p.R419	ENST00000311565.4	37	c.1257	CCDS4803.1	6																																																																																			PPARD	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	G	NM_006238		35393787	1	no_errors	ENST00000311565	ensembl	human	known	70_37	silent	SNP	0.975	T	T	35393787	G	T	35393787	2	4	41	1	0	0	0	0	0	0	0	1	12322	1161	41	3		3	PPARD	6	35393787	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		35393787	135721280	16	5780										
PIM1	5292	genome.wustl.edu	37	chr6	37138993	37138993	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	aggctcctggactggttcgaGaggcccgacagtttcgtcct	13	12	0	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:37138993G>A	ENST00000373509.5	+	4	706	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	202					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACTGGTTCGAGAGGCCCGACA	0.607			T	BCL6	NHL																																			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0													90	100	97					6																	37138993		2203	4300	6503	SO:0001819	synonymous_variant	5292				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.333G>A	6.37:g.37138993G>A			Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E111	ENST00000373509.5	37	c.333	CCDS4830.1	6																																																																																			PIM1	-	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		0.607	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM1	HGNC	protein_coding	OTTHUMT00000043903.1	G			37138993	1	no_errors	ENST00000373509	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37138993	G	A	37138993	2	1	41	1	0	0	0	0	0	0	0	1	11951	933	33	1		1	PIM1	6	37138993	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	1745206	37138993	133976074	17	5781										
SNAP91	9892	genome.wustl.edu	37	chr6	84290271	84290271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tgagacaggtgcaggctgccCagctggtgccatggttggca	16	10	0	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:84290271C>T	ENST00000439399.2	-	24	2513	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R	SNAP91_ENST00000195649.6_Missense_Mutation_p.G728R|SNAP91_ENST00000369694.2_Missense_Mutation_p.G733R|SNAP91_ENST00000520213.1_Missense_Mutation_p.G426R|SNAP91_ENST00000521743.1_Missense_Mutation_p.G733R|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000520302.1_Missense_Mutation_p.G703R|SNAP91_ENST00000521485.1_Missense_Mutation_p.G728R|SNAP91_ENST00000437520.1_Missense_Mutation_p.G426R|SNAP91_ENST00000428679.2_Missense_Mutation_p.G733R	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	733					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAGGCTGCCCAGCTGGTGCC	0.453																																																	0													89	92	91					6																	84290271		1979	4152	6131	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2197G>A	6.37:g.84290271C>T	ENSP00000400459:p.Gly733Arg		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.G733R	ENST00000439399.2	37	c.2197	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175351	0.78564	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.52	5.52	0.82312	.	0.253177	0.41396	D	0.000893	T	0.38295	0.1035	L	0.50333	1.59	0.24308	N	0.99509	D;D;D;D;D	0.89917	0.964;1.0;1.0;1.0;0.999	P;D;D;D;D	0.79108	0.706;0.992;0.988;0.988;0.958	T	0.22312	-1.0220	10	0.72032	D	0.01	-6.1785	14.2987	0.66331	0.1486:0.8514:0.0:0.0	.	609;426;703;733;731	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	R	728;733;733;728;733;426;703;733;426;74;546	ENSP00000429776:G728R;ENSP00000358708:G733R;ENSP00000400459:G733R;ENSP00000195649:G728R;ENSP00000412492:G733R;ENSP00000413277:G426R;ENSP00000428511:G703R;ENSP00000428215:G733R;ENSP00000428026:G426R;ENSP00000430255:G74R;ENSP00000430071:G546R	ENSP00000195649:G728R	G	-	1	0	SNAP91	84346990	0.997000	0.39634	0.954000	0.39281	0.997000	0.91878	3.928000	0.56506	2.589000	0.87451	0.655000	0.94253	GGG	SNAP91	-	NULL		0.453	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84290271	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	0.985	T	T	84290271	C	T	84290271	3	4	41	1	0	0	0	0	1	0	0	0	14863	594	21	4	550	4	SNAP91	6	84290271	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	47151278	84290271	86824796	18	5782										
KIAA1009	22832	genome.wustl.edu	37	chr6	84884516	84884516	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cctgttgtttctttagttctTccaacttattttctagttct	4	9	4	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:84884516T>A	ENST00000403245.3	-	15	2069	c.1955A>T	c.(1954-1956)gAa>gTa	p.E652V	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E576V	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTTAGTTCTTCCAACTTATT	0.348																																																	0													74	67	69					6																	84884516		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.1955A>T	6.37:g.84884516T>A	ENSP00000385215:p.Glu652Val			Missense_Mutation	SNP	NULL	p.E652V	ENST00000403245.3	37	c.1955	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054128	0.55218	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.21361	2.01;2.02	5.42	5.42	0.78866	.	0.160134	0.44097	D	0.000498	T	0.24392	0.0591	M	0.62723	1.935	0.28617	N	0.908386	D	0.76494	0.999	D	0.65443	0.935	T	0.13388	-1.0511	10	0.42905	T	0.14	-9.8	8.1243	0.30988	0.1251:0.0:0.1459:0.7291	.	652	Q5TB80	QN1_HUMAN	V	576;652	ENSP00000257766:E576V;ENSP00000385215:E652V	ENSP00000257766:E576V	E	-	2	0	KIAA1009	84941235	0.994000	0.37717	1.000000	0.80357	0.848000	0.48234	1.733000	0.38156	2.184000	0.69523	0.460000	0.39030	GAA	KIAA1009	-	NULL		0.348	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	T			84884516	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84884516	T	A	84884516	3	1	41	1	0	0	0	0	1	0	0	0	8223	1783	62	5	2308	5	KIAA1009	6	84884516	Missense_Mutation	SNP	T	TCGA-C5-A7CG-01A-11D-A32I-09	594245	84884516	86230551	19	5783										
BEND3	57673	genome.wustl.edu	37	chr6	107391662	107391662	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tgcggctgtgagctggtactCagggggcggctggaatttgg	19	7	1	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:107391662C>A	ENST00000369042.1	-	4	923	c.733G>T	c.(733-735)Gag>Tag	p.E245*	BEND3_ENST00000429433.2_Nonsense_Mutation_p.E245*			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	245	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGCTGGTACTCAGGGGGCGGC	0.637																																																	0													45	40	41					6																	107391662		2203	4300	6503	SO:0001587	stop_gained	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.733G>T	6.37:g.107391662C>A	ENSP00000358038:p.Glu245*		A2RRH2|Q9HCL9	Nonsense_Mutation	SNP	pfam_BEN_domain	p.E245*	ENST00000369042.1	37	c.733	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	41	9.154337	0.99084	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-42.75	19.1834	0.93632	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	ENSP00000358038:E245X	E	-	1	0	BEND3	107498355	1.000000	0.71417	0.979000	0.43373	0.845000	0.48019	5.464000	0.66719	2.774000	0.95407	0.561000	0.74099	GAG	BEND3	-	NULL		0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107391662	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	107391662	C	A	107391662	4	1	41	1	0	0	0	0	0	1	0	0	1400	835	29	3	1757	3	BEND3	6	107391662	Nonsense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	22507146	107391662	63723405	20	5784										
GRM1	2911	genome.wustl.edu	37	chr6	146480687	146480687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cagtgcgaggactcctgagcGccatgcggcgccttggcgtc	15	14	0	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:146480687G>A	ENST00000282753.1	+	2	1139	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GRM1_ENST00000392299.2_Missense_Mutation_p.A302T|GRM1_ENST00000355289.4_Missense_Mutation_p.A302T|GRM1_ENST00000361719.2_Missense_Mutation_p.A302T|GRM1_ENST00000492807.2_Missense_Mutation_p.A302T|GRM1_ENST00000507907.1_Missense_Mutation_p.A302T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	302					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTCCTGAGCGCCATGCGGCG	0.557																																																	0													73	70	71					6																	146480687		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.904G>A	6.37:g.146480687G>A	ENSP00000282753:p.Ala302Thr		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A302T	ENST00000282753.1	37	c.904	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.734577	0.96865	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91489	0.7313	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71870	0.957;0.916;0.975;0.957	D	0.92266	0.5821	10	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	302;302;297;302	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	T	302	ENSP00000354896:A302T;ENSP00000376119:A302T;ENSP00000424095:A302T;ENSP00000282753:A302T;ENSP00000347437:A302T;ENSP00000425599:A302T	ENSP00000282753:A302T	A	+	1	0	GRM1	146522380	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	9.415000	0.97375	2.495000	0.84180	0.655000	0.94253	GCC	GRM1	-	pfam_ANF_lig-bd_rcpt		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	G	NM_000838		146480687	1	no_errors	ENST00000282753	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146480687	G	A	146480687	3	1	41	1	0	0	0	0	1	0	0	0	6816	1087	38	2	910	2	GRM1	6	146480687	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	39089025	146480687	24634380	21	5785										
FNDC1	84624	genome.wustl.edu	37	chr6	159621085	159621085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	aaaccacagtggagtgagccGtcctgtttacagagctgaaa	11	9	0	3			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:159621085G>A	ENST00000297267.9	+	3	562	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R121H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	121	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTGAGCCGTCCTGTTTAC	0.478																																																	0													86	86	86					6																	159621085		1947	4140	6087	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.362G>A	6.37:g.159621085G>A	ENSP00000297267:p.Arg121His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R121H	ENST00000297267.9	37	c.362	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918618	0.73098	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.085770	0.50627	D	0.000113	T	0.48132	0.1483	N	0.14661	0.345	0.32908	D	0.51417	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57260	-0.7842	10	0.62326	D	0.03	-13.9375	15.8813	0.79207	0.0:0.0:1.0:0.0	.	121;121	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	121	ENSP00000297267:R121H;ENSP00000342460:R121H	ENSP00000297267:R121H	R	+	2	0	FNDC1	159541073	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	2.445000	0.44899	2.821000	0.97095	0.650000	0.86243	CGT	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	G	NM_032532		159621085	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.986	A	A	159621085	G	A	159621085	3	1	41	1	0	0	0	0	1	0	0	0	5986	1145	40	2	372	2	FNDC1	6	159621085	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	13140398	159621085	11493982	22	5786										
CCR6	1235	genome.wustl.edu	37	chr6	167550050	167550050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gagtcatgccaccggtgcgtGggttttcagcaatgccacgt	13	11	2	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr6:167550050G>T	ENST00000341935.5	+	3	884	c.332G>T	c.(331-333)tGg>tTg	p.W111L	CCR6_ENST00000349984.4_Missense_Mutation_p.W111L|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.W111L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	111					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ACCGGTGCGTGGGTTTTCAGC	0.498																																																	0													127	126	127					6																	167550050		2203	4300	6503	SO:0001583	missense	1235			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.332G>T	6.37:g.167550050G>T	ENSP00000343952:p.Trp111Leu		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXC/IL8_rcpt	p.W111L	ENST00000341935.5	37	c.332	CCDS5298.1	6	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285991	0.59867	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.77358	-1.09;-1.09;-1.09	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.169281	0.42821	U	0.000651	D	0.91341	0.7269	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94311	0.7545	10	0.87932	D	0	.	17.0018	0.86383	0.0:0.0:1.0:0.0	.	111	P51684	CCR6_HUMAN	L	111	ENSP00000383715:W111L;ENSP00000343952:W111L;ENSP00000339393:W111L	ENSP00000343952:W111L	W	+	2	0	CCR6	167470040	1.000000	0.71417	0.258000	0.24420	0.102000	0.19082	6.894000	0.75655	2.230000	0.72887	0.561000	0.74099	TGG	CCR6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4		0.498	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCR6	HGNC	protein_coding	OTTHUMT00000043118.1	G			167550050	1	no_errors	ENST00000341935	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167550050	G	T	167550050	3	4	41	1	0	0	0	0	1	0	0	0	2950	1357	47	4	338	4	CCR6	6	167550050	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	7928965	167550050	3565017	23	5787										
HNRNPA2B1	3181	genome.wustl.edu	37	chr7	26235495	26235495	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cctcctccatacccattataGccatccccaaatccacgtcc	2	20	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:26235495G>T	ENST00000354667.4	-	8	897	c.729C>A	c.(727-729)ggC>ggA	p.G243G	HNRNPA2B1_ENST00000356674.7_Silent_p.G231G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	243	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACCCATTATAGCCATCCCCAA	0.363			T	ETV1	prostate																																			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													115	99	105					7																	26235495		2203	4300	6503	SO:0001819	synonymous_variant	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.729C>A	7.37:g.26235495G>T			A8K064|P22627|Q9UC98|Q9UDJ2	Silent	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.G243	ENST00000354667.4	37	c.729	CCDS43557.1	7																																																																																			HNRNPA2B1	-	NULL		0.363	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	G	NM_002137		26235495	-1	no_errors	ENST00000354667	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26235495	G	T	26235495	2	4	41	1	0	0	0	0	0	0	0	1	7279	958	34	4		4	HNRNPA2B1	7	26235495	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		26235495	132903168	24	5788										
ASL	435	genome.wustl.edu	37	chr7	65553811	65553811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cagccgagttcctgttctggGcttcgctgtgcatgacccat	11	13	1	1	rs3116476		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:65553811G>A	ENST00000304874.9	+	11	838	c.736G>A	c.(736-738)Gct>Act	p.A246T	AC068533.7_ENST00000450043.1_Missense_Mutation_p.G14D|ASL_ENST00000380839.4_Missense_Mutation_p.A220T|ASL_ENST00000395332.3_Missense_Mutation_p.A246T|ASL_ENST00000395331.3_Missense_Mutation_p.A246T	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	246				A -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276). {ECO:0000305}.	arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCTGTTCTGGGCTTCGCTGTG	0.592																																																	0													84	63	70					7																	65553811		2203	4300	6503	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.736G>A	7.37:g.65553811G>A	ENSP00000307188:p.Ala246Thr		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.A246T	ENST00000304874.9	37	c.736	CCDS5531.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	26.0|26.0	4.693436|4.693436	0.88735|0.88735	.|.	.|.	ENSG00000126522|ENSG00000249319	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331|ENST00000450043	D;D;D;D;D|.	0.99436|.	-5.9;-5.9;-5.9;-5.9;-5.9|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Lyase 1, N-terminal (1);L-Aspartase-like (1);|.	0.113875|.	0.64402|.	D|.	0.000017|.	T|T	0.79305|0.79305	0.4423|0.4423	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	B;P;P|.	0.41643|.	0.45;0.758;0.485|.	P;B;B|.	0.46452|.	0.517;0.31;0.36|.	T|T	0.79022|0.79022	-0.1973|-0.1973	10|5	0.72032|.	D|.	0.01|.	.|.	19.0811|19.0811	0.93182|0.93182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220;246;246|.	E9PE48;E7EMI0;P04424|.	.;.;ARLY_HUMAN|.	T|D	246;220;246;181;246|14	ENSP00000307188:A246T;ENSP00000370219:A220T;ENSP00000378741:A246T;ENSP00000354710:A181T;ENSP00000378740:A246T|.	ENSP00000307188:A246T|.	A|G	+|+	1|2	0|0	ASL|AC068533.7	65191246|65191246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	7.135000|7.135000	0.77276|0.77276	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GCT|GGC	ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase		0.592	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	G	NM_000048		65553811	1	no_errors	ENST00000304874	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65553811	G	A	65553811	3	1	41	1	0	0	0	0	1	0	0	0	1045	1203	42	4	774	4	ASL	7	65553811	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	39318316	65553811	93584852	25	5789										
ZCWPW1	55063	genome.wustl.edu	37	chr7	100014776	100014776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ctacgggctgggcacaagaaGtctctgcaaaatcaaggcca	11	11	2	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr7:100014776G>A	ENST00000398027.2	-	6	639	c.392C>T	c.(391-393)aCt>aTt	p.T131I	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.T10I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.T131I|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.T10I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	131							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCACAAGAAGTCTCTGCAAA	0.413																																																	0													119	109	112					7																	100014776		1876	4102	5978	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.392C>T	7.37:g.100014776G>A	ENSP00000381109:p.Thr131Ile		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.T131I	ENST00000398027.2	37	c.392	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419618	0.62622	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.52295	0.68;0.72;0.67;0.72	4.48	2.63	0.31362	.	0.451947	0.16408	N	0.215729	T	0.51635	0.1686	L	0.52573	1.65	0.22701	N	0.998834	D;D;D;D;D	0.63880	0.993;0.981;0.981;0.981;0.989	P;P;P;P;P	0.58266	0.796;0.69;0.69;0.69;0.836	T	0.34304	-0.9834	9	.	.	.	-3.8295	5.5027	0.16836	0.103:0.0:0.7009:0.1961	.	131;91;132;131;10	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	I	131;10;131;10;132	ENSP00000381109:T131I;ENSP00000419187:T10I;ENSP00000354210:T131I;ENSP00000314880:T10I	.	T	-	2	0	ZCWPW1	99852712	0.998000	0.40836	0.608000	0.28969	0.944000	0.59088	0.816000	0.27267	0.601000	0.29879	0.643000	0.83706	ACT	ZCWPW1	-	NULL		0.413	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	G	NM_017984		100014776	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.750	A	A	100014776	G	A	100014776	3	1	41	1	0	0	0	0	1	0	0	0	17627	1029	36	4	1606	4	ZCWPW1	7	100014776	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	34460965	100014776	59123887	26	5790										
KIFC2	90990	genome.wustl.edu	37	chr8	145694209	145694209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	agggttcgctgagtgaggccCggggccaggtcaggacccct	17	12	1	2	rs368447948		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr8:145694209C>T	ENST00000301332.2	+	10	1482	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	KIFC2_ENST00000301331.5_Missense_Mutation_p.R117W	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	369					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GAGTGAGGCCCGGGGCCAGGT	0.642																																																	0								C	TRP/ARG	0,4406		0,0,2203	53	58	56		1105	3.3	1	8		56	1,8599		0,1,4299	no	missense	KIFC2	NM_145754.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	369/839	145694209	1,13005	2203	4300	6503	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1105C>T	8.37:g.145694209C>T	ENSP00000301332:p.Arg369Trp		E9PHB2|Q96NN6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R369W	ENST00000301332.2	37	c.1105	CCDS6427.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185093|3.185093	0.57909|0.57909	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167702|ENSG00000167702	ENST00000528415|ENST00000301332;ENST00000301331	.|T;T	.|0.73363	.|-0.65;-0.74	4.26|4.26	3.35|3.35	0.38373|0.38373	.|.	.|.	.|.	.|.	.|.	T|T	0.59770|0.59770	0.2218|0.2218	N|N	0.14661|0.14661	0.345|0.345	0.26631|0.26631	N|N	0.972477|0.972477	.|D	.|0.63880	.|0.993	.|B	.|0.44315	.|0.446	T|T	0.53315|0.53315	-0.8456|-0.8456	5|9	.|0.87932	.|D	.|0	-0.5972|-0.5972	9.2354|9.2354	0.37464|0.37464	0.2167:0.7833:0.0:0.0|0.2167:0.7833:0.0:0.0	.|.	.|369	.|Q96AC6	.|KIFC2_HUMAN	L|W	189|369;117	.|ENSP00000301332:R369W;ENSP00000301331:R117W	.|ENSP00000301331:R117W	P|R	+|+	2|1	0|2	KIFC2|KIFC2	145665017|145665017	0.073000|0.073000	0.21202|0.21202	0.953000|0.953000	0.39169|0.39169	0.976000|0.976000	0.68499|0.68499	1.320000|1.320000	0.33666|0.33666	0.750000|0.750000	0.32877|0.32877	0.556000|0.556000	0.70494|0.70494	CCG|CGG	KIFC2	-	NULL		0.642	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	C	NM_145754		145694209	1	no_errors	ENST00000301332	ensembl	human	known	70_37	missense	SNP	0.930	T	T	145694209	C	T	145694209	3	4	41	1	0	0	0	0	1	0	0	0	8333	643	23	2	1143	2	KIFC2	8	145694209	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		145694209	669813	27	5791										
SLC44A1	23446	genome.wustl.edu	37	chr9	108110672	108110672	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tagctacaacctaaagccttCtgaatacactacatctccaa	3	13	2	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr9:108110672C>T	ENST00000374720.3	+	5	687	c.440C>T	c.(439-441)tCt>tTt	p.S147F	SLC44A1_ENST00000374724.1_Missense_Mutation_p.S147F|SLC44A1_ENST00000374723.1_Missense_Mutation_p.S147F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	147					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTAAAGCCTTCTGAATACACT	0.363																																																	0													122	120	121					9																	108110672		2203	4300	6503	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.440C>T	9.37:g.108110672C>T	ENSP00000363852:p.Ser147Phe		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.S147F	ENST00000374720.3	37	c.440	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486664	0.44249	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80909	-1.43;-1.43;-1.43	5.46	5.46	0.80206	.	0.234004	0.44902	D	0.000419	T	0.75384	0.3842	L	0.37800	1.135	0.80722	D	1	B;B	0.22480	0.0;0.07	B;B	0.20767	0.003;0.031	T	0.69917	-0.5015	10	0.39692	T	0.17	0.5343	19.2931	0.94110	0.0:1.0:0.0:0.0	.	147;147	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	F	147	ENSP00000363855:S147F;ENSP00000363852:S147F;ENSP00000363856:S147F	ENSP00000363852:S147F	S	+	2	0	SLC44A1	107150493	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.911000	0.48774	2.554000	0.86153	0.655000	0.94253	TCT	SLC44A1	-	NULL		0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	C	NM_080546		108110672	1	no_errors	ENST00000374720	ensembl	human	known	70_37	missense	SNP	0.994	T	T	108110672	C	T	108110672	3	4	41	1	0	0	0	0	1	0	0	0	14665	913	32	1	458	1	SLC44A1	9	108110672	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		108110672	33102759	28	5792										
ZDHHC12	84885	genome.wustl.edu	37	chr9	131483965	131483965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ccccacagaagcaccaccagCtgcagcgccaggtagaccac	9	18	0	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr9:131483965C>T	ENST00000372663.4	-	4	459	c.447G>A	c.(445-447)caG>caA	p.Q149Q	ZDHHC12_ENST00000467312.1_5'UTR|RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000372667.5_Silent_p.Q163Q|ZDHHC12_ENST00000372672.2_Silent_p.Q149Q	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	149					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						GCACCACCAGCTGCAGCGCCA	0.652																																																	0													158	144	149					9																	131483965		2203	4300	6503	SO:0001819	synonymous_variant	84885			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"Zinc fingers, DHHC-type"	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.447G>A	9.37:g.131483965C>T			A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q163	ENST00000372663.4	37	c.489	CCDS6909.1	9																																																																																			ZDHHC12	-	pfam_Znf_DHHC_palmitoyltrfase		0.652	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC12	HGNC	protein_coding	OTTHUMT00000054484.1	C	NM_032799		131483965	-1	no_errors	ENST00000372667	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131483965	C	T	131483965	2	4	41	1	0	0	0	0	0	0	0	1	17632	796	28	4		4	ZDHHC12	9	131483965	Silent	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	23373293	131483965	9729466	29	5793										
GJD4	219770	genome.wustl.edu	37	chr10	35897248	35897248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ccggcgcccccgggtgcacgCgccggaggggagggggctgg	22	14	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr10:35897248C>T	ENST00000321660.1	+	2	965	c.807C>T	c.(805-807)cgC>cgT	p.R269R	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	269			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGGGTGCACGCGCCGGAGGGG	0.706																																																	0													8	8	8					10																	35897248		2088	4118	6206	SO:0001819	synonymous_variant	219770			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.807C>T	10.37:g.35897248C>T			Q8N2R7	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.R269	ENST00000321660.1	37	c.807	CCDS7191.1	10																																																																																			GJD4	-	NULL		0.706	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD4	HGNC	protein_coding	OTTHUMT00000047576.1	C	NM_153368		35897248	1	no_errors	ENST00000321660	ensembl	human	known	70_37	silent	SNP	0.001	T	T	35897248	C	T	35897248	2	4	41	1	0	0	0	0	0	0	0	1	6438	755	27	2		2	GJD4	10	35897248	Silent	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		35897248	99637499	30	5794										
GRID1	2894	genome.wustl.edu	37	chr10	87484146	87484146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ccatagacaatccagatggcGctgtgcagagtggcagaagc	13	10	0	4	rs200091837		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr10:87484146G>A	ENST00000327946.7	-	11	1906	c.1821C>T	c.(1819-1821)agC>agT	p.S607S	GRID1_ENST00000536331.1_Silent_p.S178S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	607					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S607S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCCAGATGGCGCTGTGCAGAG	0.527										Multiple Myeloma(13;0.14)																																							1	Substitution - coding silent(1)	central_nervous_system(1)											46	46	46					10																	87484146		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1821C>T	10.37:g.87484146G>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S607	ENST00000327946.7	37	c.1821	CCDS31236.1	10																																																																																			GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.527	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	G	XM_043613		87484146	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	silent	SNP	0.803	A	A	87484146	G	A	87484146	2	1	41	1	0	0	0	0	0	0	0	1	6791	1078	38	2		2	GRID1	10	87484146	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	51586898	87484146	48050601	31	5795										
MUC5B	727897	genome.wustl.edu	37	chr11	1269975	1269975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	accacggccactacgatcacGgccaccggctccaccaccaa	7	20	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:1269975G>A	ENST00000529681.1	+	31	11923	c.11865G>A	c.(11863-11865)acG>acA	p.T3955T	MUC5B_ENST00000447027.1_Silent_p.T3958T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3955	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctacgatcacggccaccggct	0.617																																																	0													82	111	101					11																	1269975		1921	3893	5814	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11865G>A	11.37:g.1269975G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T3958	ENST00000529681.1	37	c.11874	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269975	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1269975	G	A	1269975	2	1	41	1	0	0	0	0	0	0	0	1	10002	1103	39	2		2	MUC5B	11	1269975	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		1269975	133736541	32	5796										
NAALAD2	10003	genome.wustl.edu	37	chr11	89891408	89891408	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	atgcagaaatattattacggTatagttttcttgttggatat	8	3	1	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:89891408T>C	ENST00000534061.1	+	7	1120		c.e7+2		NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Splice_Site	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTATTACGGTATAGTTTTCT	0.323																																																	0													79	82	81					11																	89891408		2201	4295	6496	SO:0001630	splice_region_variant	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.890+2T>C	11.37:g.89891408T>C			B3KQR4|Q4KKV4|Q4VAM9	Splice_Site	SNP	-	e7+2	ENST00000534061.1	37	c.890+2	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	T	18.35	3.603990	0.66445	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3582	0.74443	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAALAD2	89531056	1.000000	0.71417	0.978000	0.43139	0.714000	0.41099	6.416000	0.73332	2.051000	0.60960	0.473000	0.43528	.	NAALAD2	-	-		0.323	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	T	NM_005467	Intron	89891408	1	no_errors	ENST00000534061	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	89891408	T	C	89891408	5	2	41	1	0	0	0	0	0	0	1	0	10151	1652	57	5	918	5	NAALAD2	11	89891408	Splice_Site	SNP	T	TCGA-C5-A7CG-01A-11D-A32I-09	88621433	89891408	45115108	33	5797										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103070089	103070089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ttctattagcaggacgcagtGgtgtaggtcgtcggaccatc	13	9	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:103070089G>T	ENST00000375735.2	+	49	8116	c.7972G>T	c.(7972-7974)Ggt>Tgt	p.G2658C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G2658C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2658	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGGACGCAGTGGTGTAGGTCG	0.438																																																	0													111	105	107					11																	103070089		1916	4129	6045	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7972G>T	11.37:g.103070089G>T	ENSP00000364887:p.Gly2658Cys		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2658C	ENST00000375735.2	37	c.7972	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448632	0.84101	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.90620	-2.7;-2.7	6.07	6.07	0.98685	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000004	D	0.97158	0.9071	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97376	0.9979	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2658;2658	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2658	ENSP00000364887:G2658C;ENSP00000381167:G2658C	ENSP00000364887:G2658C	G	+	1	0	DYNC2H1	102575299	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	9.766000	0.98957	2.885000	0.99019	0.655000	0.94253	GGT	DYNC2H1	-	NULL		0.438	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103070089	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103070089	G	T	103070089	3	4	41	1	0	0	0	0	1	0	0	0	4856	1348	47	4	8166	4	DYNC2H1	11	103070089	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	13178681	103070089	31936427	34	5798										
ZBTB16	7704	genome.wustl.edu	37	chr11	113934923	113934923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	agctacactatgggcgagagGagagtgccgagcaggtgcca	16	9	0	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:113934923G>A	ENST00000335953.4	+	2	1281	c.901G>A	c.(901-903)Gag>Aag	p.E301K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E301K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	301					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGGCGAGAGGAGAGTGCCGA	0.647																																																	0													53	45	48					11																	113934923		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.901G>A	11.37:g.113934923G>A	ENSP00000338157:p.Glu301Lys		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E301K	ENST00000335953.4	37	c.901	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982205	0.74474	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.10573	2.86;2.86	5.11	5.11	0.69529	.	0.108901	0.64402	D	0.000007	T	0.10252	0.0251	N	0.24115	0.695	0.80722	D	1	B;B	0.33694	0.281;0.421	B;B	0.32980	0.037;0.156	T	0.16012	-1.0417	10	0.51188	T	0.08	-16.7646	18.7138	0.91668	0.0:0.0:1.0:0.0	.	301;306	Q05516;Q59H43	ZBT16_HUMAN;.	K	301	ENSP00000338157:E301K;ENSP00000376721:E301K	ENSP00000338157:E301K	E	+	1	0	ZBTB16	113440133	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.563000	0.98148	2.651000	0.90000	0.655000	0.94253	GAG	ZBTB16	-	NULL		0.647	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		113934923	1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113934923	G	A	113934923	3	1	41	1	0	0	0	0	1	0	0	0	17556	1175	41	1	903	1	ZBTB16	11	113934923	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	10864834	113934923	21071593	35	5799										
SPA17	53340	genome.wustl.edu	37	chr11	124551329	124551329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gggggagtaaggtagaagacCgcttctataacaatcatgca	12	7	2	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr11:124551329C>T	ENST00000532692.1	+	2	1620	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	SIAE_ENST00000525730.1_Intron|SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R67C			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	67					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GGTAGAAGACCGCTTCTATAA	0.358																																																	0													117	112	114					11																	124551329		2201	4299	6500	SO:0001583	missense	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"cancer/testis antigen 22"	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.199C>T	11.37:g.124551329C>T	ENSP00000432305:p.Arg67Cys		B2R4F2|Q9BXF7	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS	p.R67C	ENST00000532692.1	37	c.199	CCDS8450.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083682	0.76642	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.76644	0.4016	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76599	-0.2900	9	0.49607	T	0.09	-2.9718	12.3405	0.55091	0.2696:0.7304:0.0:0.0	.	67	Q15506	SP17_HUMAN	C	67	.	ENSP00000227135:R67C	R	+	1	0	SPA17	124056539	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.867000	0.48428	2.752000	0.94435	0.557000	0.71058	CGC	SPA17	-	pirsf_Sp17		0.358	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	C	NM_017425		124551329	1	no_errors	ENST00000227135	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	124551329	C	T	124551329	3	4	41	1	0	0	0	0	1	0	0	0	15001	652	23	2	205	2	SPA17	11	124551329	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	10616406	124551329	10455187	36	5800										
KCNA6	3742	genome.wustl.edu	37	chr12	4919592	4919592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gcttctaccagctgggggacGaggccctggcggccttccgg	16	14	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr12:4919592G>A	ENST00000280684.3	+	1	1251	c.385G>A	c.(385-387)Gag>Aag	p.E129K	KCNA6_ENST00000433855.1_Missense_Mutation_p.E129K|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	129					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.E129K(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTGGGGGACGAGGCCCTGGC	0.682										HNSCC(72;0.22)																																							1	Substitution - Missense(1)	lung(1)											37	42	40					12																	4919592		2203	4300	6503	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.385G>A	12.37:g.4919592G>A	ENSP00000280684:p.Glu129Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E129K	ENST00000280684.3	37	c.385	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503360	0.85176	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76709	-1.04;-1.04	4.69	3.78	0.43462	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.107615	0.64402	D	0.000010	T	0.76357	0.3976	M	0.82132	2.575	0.51767	D	0.999936	P	0.45569	0.861	B	0.38296	0.27	T	0.77316	-0.2633	10	0.35671	T	0.21	.	13.8564	0.63529	0.0:0.154:0.846:0.0	.	129	P17658	KCNA6_HUMAN	K	129	ENSP00000408321:E129K;ENSP00000280684:E129K	ENSP00000280684:E129K	E	+	1	0	KCNA6	4789853	1.000000	0.71417	0.613000	0.29037	0.994000	0.84299	9.499000	0.97975	1.146000	0.42352	0.563000	0.77884	GAG	KCNA6	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.682	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	G	NM_002235		4919592	1	no_errors	ENST00000280684	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4919592	G	A	4919592	3	1	41	1	0	0	0	0	1	0	0	0	8027	1059	37	1	387	1	KCNA6	12	4919592	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		4919592	128932303	37	5801										
C12orf26	84190	genome.wustl.edu	37	chr12	82850511	82850511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	aattttgttttacagtgatcGgcatgttggtaaaatttatt	8	3	0	1	rs377321617		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr12:82850511G>T	ENST00000248306.3	+	9	1553	c.1484G>T	c.(1483-1485)cGg>cTg	p.R495L	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	495							methyltransferase activity (GO:0008168)										TACAGTGATCGGCATGTTGGT	0.279																																																	0													70	66	68					12																	82850511		2200	4296	6496	SO:0001583	missense	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1484G>T	12.37:g.82850511G>T	ENSP00000248306:p.Arg495Leu		Q9H5Y3	Missense_Mutation	SNP	NULL	p.R495L	ENST00000248306.3	37	c.1484	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502067	0.26949	.	.	ENSG00000127720	ENST00000248306	T	0.34472	1.36	5.86	-5.09	0.02920	.	0.585657	0.17582	N	0.169066	T	0.18759	0.0450	N	0.17312	0.475	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.12451	-1.0547	10	0.25751	T	0.34	0.018	14.168	0.65490	0.402:0.0:0.598:0.0	.	495	Q8N6Q8	CL026_HUMAN	L	495	ENSP00000248306:R495L	ENSP00000248306:R495L	R	+	2	0	C12orf26	81374642	0.000000	0.05858	0.085000	0.20634	0.597000	0.36814	-0.425000	0.07017	-0.846000	0.04174	-1.000000	0.02509	CGG	METTL25	-	NULL		0.279	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	G	NM_032230		82850511	1	no_errors	ENST00000248306	ensembl	human	known	70_37	missense	SNP	0.001	T	T	82850511	G	T	82850511	3	4	41	1	0	0	0	0	1	0	0	0	1683	1116	39	2	1518	2	C12orf26	12	82850511	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	77930919	82850511	51001384	38	5802										
FGF14	2259	genome.wustl.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	10	14	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																																	2	Substitution - Missense(2)	large_intestine(2)											267	201	224					13																	102375254		2203	4300	6503	SO:0001583	missense	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.T229M	ENST00000376143.4	37	c.686	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG	FGF14	-	NULL		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	G			102375254	-1	no_errors	ENST00000376131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102375254	G	A	102375254	3	1	41	1	0	0	0	0	1	0	0	0	5861	1145	40	2	76	2	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		102375254	12794624	39	5803										
RTN1	6252	genome.wustl.edu	37	chr14	60212965	60212965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	aatcagaactaaataagccaCgagactctatcccaggcaca	6	12	2	2	rs200207910		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr14:60212965C>A	ENST00000267484.5	-	2	811	c.476G>T	c.(475-477)cGt>cTt	p.R159L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	159					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAATAAGCCACGAGACTCTAT	0.507																																																	0													66	68	67					14																	60212965		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.476G>T	14.37:g.60212965C>A	ENSP00000267484:p.Arg159Leu		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R159L	ENST00000267484.5	37	c.476	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837301	0.16891	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.27104	1.69	5.48	-11.0	0.00169	.	1.144020	0.06165	N	0.676578	T	0.18467	0.0443	L	0.56769	1.78	0.23994	N	0.996239	B	0.06786	0.001	B	0.06405	0.002	T	0.10870	-1.0611	10	0.34782	T	0.22	.	6.598	0.22685	0.0783:0.5398:0.2351:0.1468	.	159	Q16799	RTN1_HUMAN	L	159;85	ENSP00000267484:R159L	ENSP00000267484:R159L	R	-	2	0	RTN1	59282718	0.000000	0.05858	0.075000	0.20258	0.235000	0.25334	-2.427000	0.01026	-2.539000	0.00486	-1.031000	0.02408	CGT	RTN1	-	NULL		0.507	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	C			60212965	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.018	A	A	60212965	C	A	60212965	3	1	41	1	0	0	0	0	1	0	0	0	13755	536	19	2	1951	2	RTN1	14	60212965	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		60212965	47136575	40	5804										
NGB	58157	genome.wustl.edu	37	chr14	77734848	77734848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	acacccactgcccggtgcttCctgcccaggctggcaaggta	11	16	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr14:77734848C>A	ENST00000298352.4	-	3	656	c.282G>T	c.(280-282)agG>agT	p.R94S	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	94	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCGGTGCTTCCTGCCCAGGC	0.597																																																	0													113	89	97					14																	77734848		2203	4300	6503	SO:0001583	missense	58157			AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.282G>T	14.37:g.77734848C>A	ENSP00000298352:p.Arg94Ser			Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin	p.R94S	ENST00000298352.4	37	c.282	CCDS9856.1	14	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721341	0.30503	.	.	ENSG00000165553	ENST00000298352	D	0.92752	-3.1	4.44	3.55	0.40652	Globin-like (1);Globin, structural domain (1);	0.301356	0.38778	N	0.001565	D	0.88433	0.6435	L	0.56769	1.78	0.53005	D	0.999963	B	0.31837	0.342	B	0.36134	0.218	T	0.80937	-0.1159	10	0.14656	T	0.56	.	7.9411	0.29959	0.0:0.8058:0.0:0.1942	.	94	Q9NPG2	NGB_HUMAN	S	94	ENSP00000298352:R94S	ENSP00000298352:R94S	R	-	3	2	NGB	76804601	0.999000	0.42202	0.998000	0.56505	0.398000	0.30690	2.156000	0.42310	0.865000	0.35603	-0.339000	0.08088	AGG	NGB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin		0.597	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGB	HGNC	protein_coding	OTTHUMT00000414194.1	C	NM_021257		77734848	-1	no_errors	ENST00000298352	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77734848	C	A	77734848	3	1	41	1	0	0	0	0	1	0	0	0	10416	854	30	3	181	3	NGB	14	77734848	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	17521883	77734848	29614692	41	5805										
UBE3A	7337	genome.wustl.edu	37	chr15	25615855	25615855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ttctattgtcataatataatCccaaattctttgtgacagca	4	8	3	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:25615855C>A	ENST00000397954.2	-	4	1474	c.1475G>T	c.(1474-1476)gGa>gTa	p.G492V	UBE3A_ENST00000428984.2_Missense_Mutation_p.G469V|UBE3A_ENST00000438097.1_Missense_Mutation_p.G469V|UBE3A_ENST00000232165.3_Missense_Mutation_p.G489V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.G469V			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	492	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATAATATAATCCCAAATTCTT	0.328																																																	0													60	58	59					15																	25615855		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1475G>T	15.37:g.25615855C>A	ENSP00000381045:p.Gly492Val		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.G492V	ENST00000397954.2	37	c.1475	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717914	0.68844	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	L	0.52126	1.63	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70227	0.968;0.96	T	0.78476	-0.2189	10	0.23891	T	0.37	.	18.8536	0.92242	0.0:1.0:0.0:0.0	.	489;492	Q05086-3;Q05086	.;UBE3A_HUMAN	V	489;489;492;469;469	ENSP00000232165:G489V;ENSP00000381045:G492V;ENSP00000411258:G469V;ENSP00000401265:G469V	ENSP00000232165:G489V	G	-	2	0	UBE3A	23166948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.468000	0.83385	0.467000	0.42956	GGA	UBE3A	-	pirsf_Ubiquitin-protein_ligase_E6-AP		0.328	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	C	NM_000462		25615855	-1	no_errors	ENST00000397954	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25615855	C	A	25615855	3	1	41	1	0	0	0	0	1	0	0	0	16910	855	30	3	1184	3	UBE3A	15	25615855	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		25615855	76915537	42	5806										
DISP2	85455	genome.wustl.edu	37	chr15	40661140	40661140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gcatggcacctccaggcctcCgccgtggttggttcactagc	12	15	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:40661140C>T	ENST00000267889.3	+	8	2914	c.2827C>T	c.(2827-2829)Cgc>Tgc	p.R943C	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	943					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCAGGCCTCCGCCGTGGTTG	0.617																																																	0													68	70	70					15																	40661140		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2827C>T	15.37:g.40661140C>T	ENSP00000267889:p.Arg943Cys		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.R943C	ENST00000267889.3	37	c.2827	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636527	0.14386	.	.	ENSG00000140323	ENST00000267889	D	0.92199	-2.99	4.85	2.85	0.33270	.	0.439260	0.24808	N	0.035425	D	0.88577	0.6474	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.80582	-0.1318	10	0.59425	D	0.04	-8.3888	8.4465	0.32845	0.1566:0.7597:0.0:0.0837	.	943	A7MBM2	DISP2_HUMAN	C	943	ENSP00000267889:R943C	ENSP00000267889:R943C	R	+	1	0	DISP2	38448432	0.001000	0.12720	0.092000	0.20876	0.602000	0.36980	0.768000	0.26590	0.569000	0.29329	0.555000	0.69702	CGC	DISP2	-	NULL		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40661140	1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.041	T	T	40661140	C	T	40661140	3	4	41	1	0	0	0	0	1	0	0	0	4550	652	23	2	2857	2	DISP2	15	40661140	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	15045285	40661140	61870252	43	5807										
ALDH1A3	220	genome.wustl.edu	37	chr15	101438352	101438352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gcgggtgacgctggagctggGggggaagaacccctgcatcg	19	10	0	2	rs547918064		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr15:101438352G>A	ENST00000329841.5	+	8	1377	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.G175E|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	282					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CTGGAGCTGGGGGGGAAGAAC	0.572																																																	0													72	69	70					15																	101438352		2203	4300	6503	SO:0001583	missense	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.845G>A	15.37:g.101438352G>A	ENSP00000332256:p.Gly282Glu		Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.G282E	ENST00000329841.5	37	c.845	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231744	0.79688	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	D	0.86769	-2.17	5.76	4.84	0.62591	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.048557	0.85682	D	0.000000	D	0.96676	0.8915	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98576	1.0648	10	0.72032	D	0.01	.	16.2757	0.82642	0.0:0.0:0.8665:0.1335	.	186;282	Q7Z3A2;P47895	.;AL1A3_HUMAN	E	282;186	ENSP00000332256:G282E	ENSP00000332256:G282E	G	+	2	0	ALDH1A3	99255875	1.000000	0.71417	0.198000	0.23420	0.597000	0.36814	9.338000	0.96553	1.420000	0.47138	0.555000	0.69702	GGG	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	G			101438352	1	no_errors	ENST00000329841	ensembl	human	known	70_37	missense	SNP	0.999	A	A	101438352	G	A	101438352	3	1	41	1	0	0	0	0	1	0	0	0	492	1232	43	4	875	4	ALDH1A3	15	101438352	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	60777212	101438352	1093040	44	5808										
C16orf62	57020	genome.wustl.edu	37	chr16	19639018	19639018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gggatctgtgtcttgcagtgCcttgctgttgaattctgtga	13	7	3	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:19639018C>T	ENST00000251143.5	+	16	1286	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	C16orf62_ENST00000417362.2_Missense_Mutation_p.A358V|C16orf62_ENST00000448695.1_Missense_Mutation_p.A275V|C16orf62_ENST00000542263.1_Missense_Mutation_p.A447V|C16orf62_ENST00000438132.3_Missense_Mutation_p.A514V|C16orf62_ENST00000543152.1_Missense_Mutation_p.A174V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	425						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCTTGCAGTGCCTTGCTGTTG	0.438																																																	0													176	153	161					16																	19639018		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1274C>T	16.37:g.19639018C>T	ENSP00000251143:p.Ala425Val		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.A514V	ENST00000251143.5	37	c.1541		16	.	.	.	.	.	.	.	.	.	.	C	31	5.070263	0.93950	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.71296	2.17	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.52064	-0.8625	9	.	.	.	-23.1682	19.9089	0.97019	0.0:1.0:0.0:0.0	.	447;425	F5H7K1;Q7Z3J2	.;CP062_HUMAN	V	514;447;425;358;275	ENSP00000400815:A514V;ENSP00000442468:A447V;ENSP00000251143:A425V;ENSP00000395973:A358V;ENSP00000398009:A275V	.	A	+	2	0	C16orf62	19546519	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.137000	0.77295	2.793000	0.96121	0.655000	0.94253	GCC	C16orf62	-	NULL		0.438	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		C	NM_020314		19639018	1	no_errors	ENST00000438132	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19639018	C	T	19639018	3	4	41	1	0	0	0	0	1	0	0	0	1829	739	26	4	1336	4	C16orf62	16	19639018	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		19639018	70715735	45	5809										
USP31	57478	genome.wustl.edu	37	chr16	23080124	23080124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	acacggagtcctgagatttcGgggatgactcctttttgggt	13	8	0	2	rs566732624		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:23080124G>T	ENST00000219689.7	-	16	3301	c.3302C>A	c.(3301-3303)cCg>cAg	p.P1101Q	USP31_ENST00000567975.1_Missense_Mutation_p.P394Q	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGAGATTTCGGGGATGACTC	0.582																																																	0													82	91	88					16																	23080124		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3302C>A	16.37:g.23080124G>T	ENSP00000219689:p.Pro1101Gln		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P1101Q	ENST00000219689.7	37	c.3302	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455544	0.26161	.	.	ENSG00000103404	ENST00000219689	T	0.08634	3.07	6.06	6.06	0.98353	.	1.684290	0.03323	N	0.192261	T	0.15132	0.0365	N	0.19112	0.55	0.23174	N	0.998175	P;D	0.55385	0.911;0.971	P;P	0.55999	0.541;0.789	T	0.42982	-0.9419	10	0.11485	T	0.65	-9.7609	15.1309	0.72523	0.0:0.1406:0.8594:0.0	.	1101;394	Q70CQ4;B3KS48	UBP31_HUMAN;.	Q	1101	ENSP00000219689:P1101Q	ENSP00000219689:P1101Q	P	-	2	0	USP31	22987625	0.979000	0.34478	0.113000	0.21522	0.760000	0.43138	3.604000	0.54081	2.879000	0.98667	0.650000	0.86243	CCG	USP31	-	NULL		0.582	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23080124	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	0.270	T	T	23080124	G	T	23080124	3	4	41	1	0	0	0	0	1	0	0	0	17093	1116	39	2	760	2	USP31	16	23080124	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	3441106	23080124	67274629	46	5810										
ZNF23	7571	genome.wustl.edu	37	chr16	71483020	71483020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	actcgtaaggtttctctccaGtgtggactctctgatgtgta	10	9	2	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:71483020G>A	ENST00000393539.2	-	6	1721	c.908C>T	c.(907-909)aCt>aTt	p.T303I	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.T245I|ZNF23_ENST00000417828.1_Missense_Mutation_p.T303I|ZNF23_ENST00000428724.2_Missense_Mutation_p.T245I|ZNF23_ENST00000357254.4_Missense_Mutation_p.T303I|AC010547.9_ENST00000561908.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCTCTCCAGTGTGGACTCT	0.413																																																	0													76	75	76					16																	71483020		2198	4300	6498	SO:0001583	missense	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.908C>T	16.37:g.71483020G>A	ENSP00000377171:p.Thr303Ile		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T303I	ENST00000393539.2	37	c.908	CCDS10900.1	16	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908467	0.72868	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.15	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000343	T	0.47414	0.1444	M	0.62088	1.915	0.49798	D	0.999828	D;D	0.76494	0.999;0.998	D;P	0.78314	0.991;0.9	T	0.48592	-0.9022	10	0.87932	D	0	-23.6368	14.7472	0.69496	0.0:0.0:1.0:0.0	.	303;303	B3KR55;P17027	.;ZNF23_HUMAN	I	303;303;303;245;245;103	ENSP00000377171:T303I;ENSP00000349796:T303I;ENSP00000395712:T303I;ENSP00000387673:T245I	ENSP00000349796:T303I	T	-	2	0	ZNF23	70040521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.513000	0.60476	2.599000	0.87857	0.561000	0.74099	ACT	ZNF23	-	pfscan_Znf_C2H2		0.413	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	G	NM_145911		71483020	-1	no_errors	ENST00000357254	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71483020	G	A	71483020	3	1	41	1	0	0	0	0	1	0	0	0	17813	1029	36	4	1027	4	ZNF23	16	71483020	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	48402896	71483020	18871733	47	5811										
ATP2C2	9914	genome.wustl.edu	37	chr16	84456298	84456298	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tgtttaagatgatgcaggctGaagaggtaaggggcaggagg	18	3	0	4			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr16:84456298G>T	ENST00000262429.4	+	9	927	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Nonsense_Mutation_p.E280*	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	280					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGCAGGCTGAAGAGGTAAG	0.478																																																	0													149	153	152					16																	84456298		1881	4108	5989	SO:0001587	stop_gained	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.838G>T	16.37:g.84456298G>T	ENSP00000262429:p.Glu280*		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E280*	ENST00000262429.4	37	c.838	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	38	7.084946	0.98051	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	5.16	4.17	0.49024	.	0.087219	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.2105	0.65762	0.0:0.1509:0.8491:0.0	.	.	.	.	X	280;280;129	.	ENSP00000262429:E280X	E	+	1	0	ATP2C2	83013799	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	6.184000	0.72008	1.106000	0.41623	0.650000	0.86243	GAA	ATP2C2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr		0.478	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	G	NM_014861		84456298	1	no_errors	ENST00000262429	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	84456298	G	T	84456298	4	4	41	1	0	0	0	0	0	1	0	0	1145	1291	45	3	872	3	ATP2C2	16	84456298	Nonsense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	12973278	84456298	5898455	48	5812										
YWHAE	7531	genome.wustl.edu	37	chr17	1264468	1264468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	acctaagcgaataggatgcgTtggtggaagttctgtcattg	13	6	2	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:1264468T>C	ENST00000264335.8	-	4	763	c.496A>G	c.(496-498)Acg>Gcg	p.T166A	YWHAE_ENST00000571732.1_Missense_Mutation_p.T144A|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	166					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATAGGATGCGTTGGTGGAAGT	0.468			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																	Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	0													135	126	129					17																	1264468		2203	4300	6503	SO:0001583	missense	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.496A>G	17.37:g.1264468T>C	ENSP00000264335:p.Thr166Ala		B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.T166A	ENST00000264335.8	37	c.496	CCDS11001.1	17	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744622	0.69418	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.49139	0.79	5.39	5.39	0.77823	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.58032	0.2094	M	0.90814	3.15	0.80722	D	1	B	0.12013	0.005	B	0.21546	0.035	T	0.62158	-0.6913	10	0.66056	D	0.02	-12.444	13.4443	0.61131	0.0:0.0:0.0:1.0	.	166	P62258	1433E_HUMAN	A	166;144	ENSP00000264335:T166A	ENSP00000264335:T166A	T	-	1	0	YWHAE	1211218	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.992000	0.88273	2.057000	0.61298	0.529000	0.55759	ACG	YWHAE	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.468	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAE	HGNC	protein_coding	OTTHUMT00000259354.3	T	NM_006761		1264468	-1	no_errors	ENST00000264335	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1264468	T	C	1264468	3	2	41	1	0	0	0	0	1	0	0	0	17533	1725	60	5	283	5	YWHAE	17	1264468	Missense_Mutation	SNP	T	TCGA-C5-A7CG-01A-11D-A32I-09		1264468	79930742	49	5813										
MYH1	4619	genome.wustl.edu	37	chr17	10398340	10398340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ctgcaggtccttcaccgtctGttccaggttcttcttcatcc	7	15	5	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:10398340G>T	ENST00000226207.5	-	37	5468	c.5374C>A	c.(5374-5376)Cag>Aag	p.Q1792K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1792					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCACCGTCTGTTCCAGGTTC	0.552																																																	0													153	146	148					17																	10398340		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5374C>A	17.37:g.10398340G>T	ENSP00000226207:p.Gln1792Lys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1792K	ENST00000226207.5	37	c.5374	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984244	0.74474	.	.	ENSG00000109061	ENST00000226207	T	0.79454	-1.27	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.41194	U	0.000936	D	0.83820	0.5337	M	0.92412	3.305	0.41023	D	0.985096	P	0.37612	0.602	B	0.35770	0.21	D	0.87200	0.2240	10	0.56958	D	0.05	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	1792	P12882	MYH1_HUMAN	K	1792	ENSP00000226207:Q1792K	ENSP00000226207:Q1792K	Q	-	1	0	MYH1	10339065	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.751000	0.47508	2.616000	0.88540	0.561000	0.74099	CAG	MYH1	-	pfam_Myosin_tail		0.552	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	G	NM_005963		10398340	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10398340	G	T	10398340	3	4	41	1	0	0	0	0	1	0	0	0	10052	1386	48	4	461	4	MYH1	17	10398340	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	9133872	10398340	70796870	50	5814										
FMNL1	752	genome.wustl.edu	37	chr17	43315977	43315977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	aaagctgatggaatatttccGgaatgaggacagcaacatcg	11	7	0	2	rs146945062		TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:43315977G>A	ENST00000331495.3	+	10	1277	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_5'Flank|FMNL1_ENST00000328118.3_Missense_Mutation_p.R314Q	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	314	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAATATTTCCGGAATGAGGAC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		21568	0		0	False		,,,				2504	0				GBM(164;1247 1997 8702 11086 51972)												0								G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	97	91	93		941	3	1	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	FMNL1	NM_005892.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	314/1101	43315977	2,13004	2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.941G>A	17.37:g.43315977G>A	ENSP00000329219:p.Arg314Gln		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R314Q	ENST00000331495.3	37	c.941	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815968	0.50527	4.54E-4	0.0	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	D;D	0.83419	-1.72;-1.72	4.04	3.03	0.35002	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.650759	0.14802	N	0.297550	T	0.75481	0.3855	L	0.45352	1.415	0.30099	N	0.807625	B	0.02656	0.0	B	0.04013	0.001	T	0.67722	-0.5597	10	0.32370	T	0.25	.	10.3486	0.43920	0.1018:0.0:0.8982:0.0	.	314	O95466	FMNL_HUMAN	Q	314;314;32	ENSP00000327442:R314Q;ENSP00000329219:R314Q	ENSP00000327442:R314Q	R	+	2	0	FMNL1	40671760	0.990000	0.36364	0.996000	0.52242	0.988000	0.76386	2.400000	0.44504	0.974000	0.38366	0.400000	0.26472	CGG	FMNL1	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.587	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43315977	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	0.996	A	A	43315977	G	A	43315977	3	1	41	1	0	0	0	0	1	0	0	0	5969	1116	39	2	979	2	FMNL1	17	43315977	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09	32917637	43315977	37879233	51	5815										
SDK2	54549	genome.wustl.edu	37	chr17	71380101	71380101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	catagagcagctcccggtatCggatccggaagcccaggagg	14	12	0	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr17:71380101C>T	ENST00000392650.3	-	33	4619	c.4619G>A	c.(4618-4620)cGa>cAa	p.R1540Q	SDK2_ENST00000388726.3_Missense_Mutation_p.R1540Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1540	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCCGGTATCGGATCCGGAA	0.612																																																	0													97	81	87					17																	71380101		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4619G>A	17.37:g.71380101C>T	ENSP00000376421:p.Arg1540Gln		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1540Q	ENST00000392650.3	37	c.4619	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596502	0.66332	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56444	0.46;0.46;0.46	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000004	T	0.44685	0.1305	L	0.43646	1.37	0.54753	D	0.999984	B;B;B	0.27951	0.195;0.02;0.034	B;B;B	0.20384	0.028;0.029;0.028	T	0.37798	-0.9690	10	0.10636	T	0.68	.	19.2002	0.93708	0.0:1.0:0.0:0.0	.	1540;1540;1540	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	Q	1164;1540;1540;716;1540	ENSP00000376421:R1540Q;ENSP00000373378:R1540Q;ENSP00000407098:R716Q	ENSP00000324967:R1540Q	R	-	2	0	SDK2	68891696	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.628000	0.46477	2.630000	0.89119	0.651000	0.88453	CGA	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	C	NM_019064		71380101	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71380101	C	T	71380101	3	4	41	1	0	0	0	0	1	0	0	0	13999	884	31	1	1951	1	SDK2	17	71380101	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	28064124	71380101	9815109	52	5816										
FAM38B	63895	genome.wustl.edu	37	chr18	10704486	10704486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tgaggatgggaagcaggagcGtgatcatggaggcagagacc	18	6	1	3			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr18:10704486G>A	ENST00000503781.3	-	38	5824	c.5825C>T	c.(5824-5826)aCg>aTg	p.T1942M	PIEZO2_ENST00000302079.6_Missense_Mutation_p.T1942M|PIEZO2_ENST00000285141.4_5'Flank|PIEZO2_ENST00000538948.1_5'Flank|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T1967M|RP11-856M7.2_ENST00000584167.1_RNA	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1942					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AAGCAGGAGCGTGATCATGGA	0.572																																																	0													113	106	109					18																	10704486		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.5825C>T	18.37:g.10704486G>A	ENSP00000421377:p.Thr1942Met		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_DUF3595	p.T1967M	ENST00000503781.3	37	c.5900		18	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083000	0.36758	.	.	ENSG00000154864	ENST00000302079	T	0.26518	1.73	5.04	5.04	0.67666	.	.	.	.	.	T	0.51517	0.1679	M	0.77103	2.36	0.80722	D	1	.	.	.	.	.	.	T	0.57183	-0.7855	7	0.87932	D	0	.	18.7554	0.91830	0.0:0.0:1.0:0.0	.	.	.	.	M	1942	ENSP00000303316:T1942M	ENSP00000303316:T1942M	T	-	2	0	FAM38B	10694486	1.000000	0.71417	0.968000	0.41197	0.812000	0.45895	7.511000	0.81718	2.502000	0.84385	0.650000	0.86243	ACG	PIEZO2	-	NULL		0.572	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	G	NM_022068		10704486	-1	no_errors	ENST00000580640	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	10704486	G	A	10704486	3	1	41	1	0	0	0	0	1	0	0	0	5573	1145	40	2	2493	2	FAM38B	18	10704486	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		10704486	67372762	53	5817										
FAM69C	125704	genome.wustl.edu	37	chr18	72114391	72114391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	tgaggaccacgggccggccgCgccagtcggcctgcagcacc	15	17	0	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr18:72114391C>T	ENST00000343998.6	-	2	334	c.326G>A	c.(325-327)cGc>cAc	p.R109H	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GGGCCGGCCGCGCCAGTCGGC	0.667																																																	0													7	9	8					18																	72114391		688	1581	2269	SO:0001583	missense	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.326G>A	18.37:g.72114391C>T	ENSP00000344331:p.Arg109His			Missense_Mutation	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.R109H	ENST00000343998.6	37	c.326	CCDS42445.2	18	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581050	0.28180	.	.	ENSG00000187773	ENST00000343998	T	0.43688	0.94	3.77	1.94	0.25998	.	.	.	.	.	T	0.30324	0.0761	L	0.43923	1.385	0.39693	D	0.97107	B	0.27594	0.182	B	0.16722	0.016	T	0.14868	-1.0457	9	0.41790	T	0.15	.	7.929	0.29891	0.0:0.7253:0.0:0.2747	.	109	Q0P6D2	FA69C_HUMAN	H	109	ENSP00000344331:R109H	ENSP00000344331:R109H	R	-	2	0	FAM69C	70265371	0.882000	0.30256	0.998000	0.56505	0.536000	0.34869	1.351000	0.34022	0.903000	0.36546	0.491000	0.48974	CGC	FAM69C	-	NULL		0.667	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	C	XM_058931		72114391	-1	no_errors	ENST00000343998	ensembl	human	known	70_37	missense	SNP	0.997	T	T	72114391	C	T	72114391	3	4	41	1	0	0	0	0	1	0	0	0	5622	768	27	2	945	2	FAM69C	18	72114391	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	61409905	72114391	5962857	54	5818										
SBSN	374897	genome.wustl.edu	37	chr19	36018715	36018715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	agcctgccctgcagcattgtCgactccctggccaaacttcc	8	17	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr19:36018715C>T	ENST00000452271.2	-	1	497	c.469G>A	c.(469-471)Gac>Aac	p.D157N	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	157	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCATTGTCGACTCCCTGG	0.612																																																	0													123	117	119					19																	36018715		692	1591	2283	SO:0001583	missense	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.469G>A	19.37:g.36018715C>T	ENSP00000430242:p.Asp157Asn		A8K5J0|E9PBV3	Missense_Mutation	SNP	NULL	p.D157N	ENST00000452271.2	37	c.469	CCDS54253.1	19	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.516962	0.04171	.	.	ENSG00000189001	ENST00000452271	T	0.39997	1.05	4.57	2.32	0.28847	.	.	.	.	.	T	0.13500	0.0327	N	0.01352	-0.895	0.20074	N	0.999936	B	0.14438	0.01	B	0.01281	0.0	T	0.29397	-1.0013	9	0.13108	T	0.6	.	5.9937	0.19480	0.0:0.1736:0.5493:0.2771	.	157	E9PBV3	.	N	157	ENSP00000430242:D157N	ENSP00000430242:D157N	D	-	1	0	SBSN	40710555	0.001000	0.12720	0.519000	0.27824	0.004000	0.04260	-0.100000	0.10990	0.893000	0.36288	-0.228000	0.12330	GAC	SBSN	-	NULL		0.612	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3	C	NM_198538		36018715	-1	no_errors	ENST00000452271	ensembl	human	novel	70_37	missense	SNP	0.200	T	T	36018715	C	T	36018715	3	4	41	1	0	0	0	0	1	0	0	0	13894	884	31	1	1319	1	SBSN	19	36018715	Missense_Mutation	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09		36018715	23110268	55	5819										
PAX1	5075	genome.wustl.edu	37	chr20	21686349	21686349	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	cagacgaatttctcccaatcGgatgaagttcaccctgggcc	9	13	2	2			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr20:21686349G>A	ENST00000398485.2	+	0	53				PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1						bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCTCCCAATCGGATGAAGTTC	0.682																																																	0													20	19	19					20																	21686349		692	1591	2283	SO:0001623	5_prime_UTR_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.-2G>A	20.37:g.21686349G>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	RNA	SNP	-	NULL	ENST00000398485.2	37	NULL	CCDS13146.2	20																																																																																			PAX1	-	-		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	G			21686349	1	no_errors	ENST00000460221	ensembl	human	known	70_37	rna	SNP	1.000	A	A	21686349	G	A	21686349	1	1	41	0	1	0	0	0	0	0	0	0	11502	1131	39	2		2	PAX1	20	21686349	5'UTR	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		21686349	41339171	56	5820										
DSCAM	1826	genome.wustl.edu	37	chr21	41447003	41447003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ctgctcccgccgcctcctccGcacaaccagcaggagcacaa	8	20	0	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr21:41447003G>A	ENST00000400454.1	-	27	5326	c.4849C>T	c.(4849-4851)Cgg>Tgg	p.R1617W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1617					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1617W(1)|p.R1617R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCCTCCTCCGCACAACCAGC	0.627																																					Melanoma(134;970 1778 1785 21664 32388)												2	Substitution - Missense(1)|Substitution - coding silent(1)	endometrium(2)											75	89	84					21																	41447003		2106	4215	6321	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4849C>T	21.37:g.41447003G>A	ENSP00000383303:p.Arg1617Trp		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1617W	ENST00000400454.1	37	c.4849	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852912	0.71719	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60548	0.18;0.31	5.8	5.8	0.92144	.	0.057382	0.64402	D	0.000002	T	0.56819	0.2011	L	0.34521	1.04	0.42605	D	0.993291	D	0.65815	0.995	P	0.50378	0.639	T	0.58781	-0.7576	10	0.52906	T	0.07	.	15.3823	0.74669	0.0:0.0:0.795:0.205	.	1617	O60469	DSCAM_HUMAN	W	1617;1369	ENSP00000383303:R1617W;ENSP00000385342:R1369W	ENSP00000383303:R1617W	R	-	1	2	DSCAM	40368873	0.981000	0.34729	0.955000	0.39395	0.896000	0.52359	1.872000	0.39549	2.744000	0.94065	0.655000	0.94253	CGG	DSCAM	-	NULL		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41447003	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41447003	G	A	41447003	3	1	41	1	0	0	0	0	1	0	0	0	4778	1086	38	2	1217	2	DSCAM	21	41447003	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		41447003	6682892	57	5821										
EP300	2033	genome.wustl.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	6	9	3	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98	93	95					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41565529	G	A	41565529	3	1	41	1	0	0	0	0	1	0	0	0	5160	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		41565529	9739037	58	5822										
EBP	10682	genome.wustl.edu	37	chrX	48382321	48382321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	ctgttgtcaggtcgtgctgcGgttgtcccattggggacttg	15	9	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chrX:48382321G>A	ENST00000495186.1	+	2	985	c.162G>A	c.(160-162)gcG>gcA	p.A54A	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	54					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GTCGTGCTGCGGTTGTCCCAT	0.567																																					Ovarian(41;550 1000 33077 33474 52335)												0													200	167	178					X																	48382321		2203	4300	6503	SO:0001819	synonymous_variant	10682			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase"	300205	"emopamil-binding protein (sterol isomerase)"	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.162G>A	X.37:g.48382321G>A			Q6FGL3|Q6IBI9	Silent	SNP	pfam_EBP	p.A54	ENST00000495186.1	37	c.162	CCDS14300.1	X																																																																																			EBP	-	pfam_EBP		0.567	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	EBP	HGNC	protein_coding	OTTHUMT00000083372.1	G	NM_006579		48382321	1	no_errors	ENST00000495186	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48382321	G	A	48382321	2	1	41	1	0	0	0	0	0	0	0	1	4896	1103	39	2		2	EBP	23	48382321	Silent	SNP	G	TCGA-C5-A7CG-01A-11D-A32I-09		48382321	106888239	59	5823										
OPHN1	4983	genome.wustl.edu	37	chrX	67272420	67272420	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	gctgtttcaaaaaacctggtCctggaagccaccctgcaaac	8	13	1	0			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chrX:67272420C>T	ENST00000355520.5	-	23	2978	c.2337G>A	c.(2335-2337)agG>agA	p.R779R	OPHN1_ENST00000540071.1_Silent_p.R671R	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	779					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AAAACCTGGTCCTGGAAGCCA	0.443																																																	0													182	143	156					X																	67272420		2203	4299	6502	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2337G>A	X.37:g.67272420C>T			B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R779	ENST00000355520.5	37	c.2337	CCDS14388.1	X																																																																																			OPHN1	-	NULL		0.443	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	C	NM_002547		67272420	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	silent	SNP	0.998	T	T	67272420	C	T	67272420	2	4	41	1	0	0	0	0	0	0	0	1	10899	854	30	1		1	OPHN1	23	67272420	Silent	SNP	C	TCGA-C5-A7CG-01A-11D-A32I-09	18890099	67272420	87998140	60	5824										
ARHGEF6	9459	genome.wustl.edu	37	chrX	135763034	135763034	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0491803278688525	3	0.84544836527392	0.768652400231348	4.99624060150376	0.540134119081487	1	1	0	acaattctctccactgtgttAcctacatcccccaattatga	3	14	1	1			TCGA-C5-A7CG-01A-11D-A32I-09	TCGA-C5-A7CG-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5472540-8feb-4027-8944-08c23ab4e912	32ce03c7-1db6-44ab-92af-7a76d5cbf14d	g.chrX:135763034A>G	ENST00000250617.6	-	15	2765	c.1560T>C	c.(1558-1560)ggT>ggC	p.G520G	ARHGEF6_ENST00000535227.1_Splice_Site_p.G393G|ARHGEF6_ENST00000370622.1_Splice_Site_p.G366G|ARHGEF6_ENST00000370620.1_Splice_Site_p.G366G	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	520	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCACTGTGTTACCTACATCCC	0.438																																																	0													164	128	140					X																	135763034		2203	4300	6503	SO:0001630	splice_region_variant	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1559-1T>C	X.37:g.135763034A>G			A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.G520	ENST00000250617.6	37	c.1560	CCDS14660.1	X																																																																																			ARHGEF6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	A	NM_004840	Silent	135763034	-1	no_errors	ENST00000250617	ensembl	human	known	70_37	silent	SNP	0.025	G	G	135763034	A	G	135763034	5	3	41	1	0	0	0	0	0	0	1	0	910	405	14	5	802	5	ARHGEF6	23	135763034	Splice_Site	SNP	A	TCGA-C5-A7CG-01A-11D-A32I-09	68490614	135763034	19507526	61	5825										
ENO1	2023	genome.wustl.edu	37	chr1	8921484	8921484	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	cttgctgcccagctcctcttCaattcttgggaaggagaaag	10	11	3	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:8921484C>T	ENST00000234590.4	-	12	1359	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	414	Required for interaction with PLG. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTCCTCTTCAATTCTTGGG	0.493																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													61	57	58					1																	8921484		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1240G>A	1.37:g.8921484C>T	ENSP00000234590:p.Glu414Lys		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.E414K	ENST00000234590.4	37	c.1240	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.427128	0.96131	.	.	ENSG00000074800	ENST00000234590	T	0.62105	0.05	5.53	5.53	0.82687	Enolase, C-terminal (1);	0.047737	0.85682	N	0.000000	D	0.84875	0.5569	M	0.93678	3.445	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.76575	0.97;0.979;0.949;0.988	D	0.88600	0.3149	10	0.87932	D	0	-28.2448	18.461	0.90738	0.0:1.0:0.0:0.0	.	318;252;321;414	E2DRY6;Q9BT62;P06733-2;P06733	.;.;.;ENOA_HUMAN	K	414	ENSP00000234590:E414K	ENSP00000234590:E414K	E	-	1	0	ENO1	8844071	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.696000	0.84270	2.608000	0.88229	0.561000	0.74099	GAA	ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.493	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	C	NM_001428		8921484	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8921484	C	T	8921484	3	4	42	1	0	0	0	0	1	0	0	0	5133	835	29	1	68	1	ENO1	1	8921484	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		8921484	240329137	1	5826										
PRAMEF11	440560	genome.wustl.edu	37	chr1	12888364	12888364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tgggccacctcacctgggacGaaccccttgggtaagcagtg	13	13	1	0	rs377612057		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:12888364G>A	ENST00000535591.1	-	2	355	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	54					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CACCTGGGACGAACCCCTTGG	0.617																																																	0																																										SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.160C>T	1.37:g.12888364G>A	ENSP00000439551:p.Arg54Cys			Missense_Mutation	SNP	NULL	p.R54C	ENST00000535591.1	37	c.160	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.346405	0.24426	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05025	3.51;3.51	1.48	0.419	0.16438	.	1.302520	0.05142	N	0.494379	T	0.15825	0.0381	M	0.66439	2.03	0.09310	N	1	D	0.63046	0.992	P	0.54312	0.748	T	0.19712	-1.0297	10	0.59425	D	0.04	.	6.5928	0.22656	0.1906:0.0:0.8094:0.0	.	54	O60813	PRA11_HUMAN	C	54;95;54	ENSP00000439551:R54C;ENSP00000391839:R54C	ENSP00000328783:R95C	R	-	1	0	PRAMEF11	12810951	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.064000	0.11636	-0.156000	0.11079	-2.168000	0.00324	CGT	PRAMEF11	-	NULL		0.617	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12888364	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.000	A	A	12888364	G	A	12888364	3	1	42	1	0	0	0	0	1	0	0	0	12454	1058	37	1	1162	1	PRAMEF11	1	12888364	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	3966880	12888364	236362257	2	5827										
ZBTB40	9923	genome.wustl.edu	37	chr1	22848902	22848902	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	atgaatgtgaccagtgtaagGagctcttccccacgccagcc	10	13	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:22848902G>C	ENST00000375647.4	+	16	3451	c.3244G>C	c.(3244-3246)Gag>Cag	p.E1082Q	ZBTB40_ENST00000404138.1_Missense_Mutation_p.E1082Q|ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E970Q	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1082					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCAGTGTAAGGAGCTCTTCCC	0.502																																																	0													215	201	206					1																	22848902		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3244G>C	1.37:g.22848902G>C	ENSP00000364798:p.Glu1082Gln		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E1082Q	ENST00000375647.4	37	c.3244	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234203	0.58886	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07688	3.17;3.17;3.17	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000030	T	0.08537	0.0212	N	0.16307	0.4	0.36475	D	0.867497	P;P	0.51537	0.946;0.911	P;B	0.46253	0.509;0.382	T	0.21621	-1.0240	10	0.45353	T	0.12	-28.3573	14.7549	0.69557	0.0:0.1443:0.8557:0.0	.	970;1082	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Q	1082;1082;970	ENSP00000384527:E1082Q;ENSP00000364798:E1082Q;ENSP00000363782:E970Q	ENSP00000363782:E970Q	E	+	1	0	ZBTB40	22721489	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	GAG	ZBTB40	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	G	NM_014870		22848902	1	no_errors	ENST00000375647	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22848902	G	C	22848902	3	2	42	1	0	0	0	0	1	0	0	0	17572	1175	41	1	3302	1	ZBTB40	1	22848902	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	9960538	22848902	226401719	3	5828										
ADORA3	140	genome.wustl.edu	37	chr1	112029268	112029268	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	agcttctggttttgttgcctGataggtctgaatcagaaagg	12	6	3	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:112029268G>C	ENST00000369716.4	-	4	945	c.812C>G	c.(811-813)tCa>tGa	p.S271*	ADORA3_ENST00000369717.4_Nonsense_Mutation_p.S190*	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TTTGTTGCCTGATAGGTCTGA	0.542																																																	0													96	88	91					1																	112029268		2203	4300	6503	SO:0001587	stop_gained	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.812C>G	1.37:g.112029268G>C	ENSP00000358730:p.Ser271*		A2A3P4|Q6UWU0|Q9BYZ1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.S271*	ENST00000369716.4	37	c.812	CCDS838.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.042641|2.042641	0.35989|0.35989	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000414219;ENST00000442484|ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498	.|.	.|.	.|.	4.33|4.33	3.34|3.34	0.38264|0.38264	.|.	.|0.997403	.|0.08115	.|N	.|0.995526	T|.	0.27832|.	0.0685|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999992|0.999992	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27739|.	-1.0065|.	4|.	.|0.72032	.|D	.|0.01	4.3649|4.3649	8.5026|8.5026	0.33168|0.33168	0.0:0.0:0.7504:0.2496|0.0:0.0:0.7504:0.2496	.|.	.|.	.|.	.|.	E|X	131;84|190;271;102;96	.|.	.|ENSP00000347612:S102X	Q|S	-|-	1|2	0|0	ADORA3|ADORA3	111830791|111830791	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.316000|0.316000	0.28119|0.28119	0.913000|0.913000	0.28611|0.28611	2.235000|2.235000	0.73313|0.73313	0.462000|0.462000	0.41574|0.41574	CAG|TCA	ADORA3	-	NULL		0.542	ADORA3-007	KNOWN	basic|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000157679.1	G	NM_000677, NM_020683		112029268	-1	no_errors	ENST00000369716	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	112029268	G	C	112029268	4	2	42	1	0	0	0	0	0	1	0	0	329	1294	45	1	243	1	ADORA3	1	112029268	Nonsense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	89180366	112029268	137221353	4	5829										
POLR3C	10623	genome.wustl.edu	37	chr1	145592732	145592732	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tcaatgtaagactccagcagGaagatggtttcgtccacctg	10	10	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:145592732G>A	ENST00000334163.3	-	15	1723	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	POLR3C_ENST00000369294.1_3'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	521					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ACTCCAGCAGGAAGATGGTTT	0.438																																																	0													125	108	114					1																	145592732		2203	4300	6503	SO:0001819	synonymous_variant	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1563C>T	1.37:g.145592732G>A			O15317|Q9Y3R6	Silent	SNP	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.F521	ENST00000334163.3	37	c.1563	CCDS921.1	1																																																																																			POLR3C	-	NULL		0.438	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	HGNC	protein_coding	OTTHUMT00000038542.1	G	NM_006468		145592732	-1	no_errors	ENST00000334163	ensembl	human	known	70_37	silent	SNP	0.999	A	A	145592732	G	A	145592732	2	1	42	1	0	0	0	0	0	0	0	1	12254	1165	41	1		1	POLR3C	1	145592732	Silent	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	33563464	145592732	103657889	5	5830										
SPTA1	6708	genome.wustl.edu	37	chr1	158637785	158637785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gtatgttttccagctgggtcTtattaactgccaactccttt	7	10	1	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:158637785T>G	ENST00000368147.4	-	15	2081	c.1901A>C	c.(1900-1902)aAg>aCg	p.K634T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	634					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCTGGGTCTTATTAACTGC	0.418																																																	0													183	179	180					1																	158637785		1859	4098	5957	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1901A>C	1.37:g.158637785T>G	ENSP00000357129:p.Lys634Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K634T	ENST00000368147.4	37	c.1901	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580045	0.28180	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.95	4.95	0.65309	.	0.883442	0.09181	N	0.837373	T	0.44371	0.1290	L	0.58810	1.83	0.31067	N	0.713414	B	0.26041	0.14	B	0.38020	0.263	T	0.50964	-0.8765	10	0.56958	D	0.05	.	13.6072	0.62054	0.0:0.0:0.0:1.0	.	634	P02549	SPTA1_HUMAN	T	634	ENSP00000357130:K634T;ENSP00000357129:K634T	ENSP00000357129:K634T	K	-	2	0	SPTA1	156904409	1.000000	0.71417	0.005000	0.12908	0.023000	0.10783	2.571000	0.45990	2.080000	0.62538	0.528000	0.53228	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	T	NM_003126		158637785	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	0.979	G	G	158637785	T	G	158637785	3	3	42	1	0	0	0	0	1	0	0	0	15146	1609	56	5	5510	5	SPTA1	1	158637785	Missense_Mutation	SNP	T	TCGA-C5-A7CH-01A-11D-A33O-09	13045053	158637785	90612836	6	5831										
HMCN1	83872	genome.wustl.edu	37	chr1	185880836	185880836	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	aaaaaagggatttggcctgcAtgagctattaaatatccata	8	6	0	1	rs368798833		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:185880836A>C	ENST00000271588.4	+	6	1053	c.824A>C	c.(823-825)cAt>cCt	p.H275P	HMCN1_ENST00000367492.2_Missense_Mutation_p.H275P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	275					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTGGCCTGCATGAGCTATTA	0.393																																																	0								A	PRO/HIS	1,4405	2.1+/-5.4	0,1,2202	212	226	221		824	5.6	1	1		221	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	77	0,1,6502	CC,CA,AA		0.0,0.0227,0.0077	benign	275/5636	185880836	1,13005	2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.824A>C	1.37:g.185880836A>C	ENSP00000271588:p.His275Pro		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.H275P	ENST00000271588.4	37	c.824	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625771	0.46840	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63744	-0.05;-0.06	5.63	5.63	0.86233	.	0.145325	0.64402	D	0.000011	T	0.41026	0.1141	N	0.03608	-0.345	0.25391	N	0.988526	B	0.06786	0.001	B	0.01281	0.0	T	0.29701	-1.0003	10	0.36615	T	0.2	.	16.1327	0.81454	1.0:0.0:0.0:0.0	.	275	Q96RW7	HMCN1_HUMAN	P	275	ENSP00000271588:H275P;ENSP00000356462:H275P	ENSP00000271588:H275P	H	+	2	0	HMCN1	184147459	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	4.014000	0.57145	2.269000	0.75478	0.454000	0.30748	CAT	HMCN1	-	NULL		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	A	NM_031935		185880836	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	C	C	185880836	A	C	185880836	3	2	42	1	0	0	0	0	1	0	0	0	7240	217	8	5	846	5	HMCN1	1	185880836	Missense_Mutation	SNP	A	TCGA-C5-A7CH-01A-11D-A33O-09	27243051	185880836	63369785	7	5832										
TSSC1	7260	genome.wustl.edu	37	chr2	3217970	3217970	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ccacagcaggatatggttatCagccaaggaaatgattttct	9	8	2	1	rs376448610		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:3217970C>T	ENST00000382125.4	-	5	658	c.466G>A	c.(466-468)Gat>Aat	p.D156N	TSSC1_ENST00000398659.4_Missense_Mutation_p.D183N|TSSC1_ENST00000443925.2_Missense_Mutation_p.D156N|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	156								p.D156N(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ATATGGTTATCAGCCAAGGAA	0.413																																					Colon(140;1261 1762 4183 34270 49743)												1	Substitution - Missense(1)	lung(1)						C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	133	121	125		466	5	0.8	2		125	0,8600		0,0,4300	no	missense	TSSC1	NM_003310.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	156/388	3217970	1,13005	2203	4300	6503	SO:0001583	missense	7260			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.466G>A	2.37:g.3217970C>T	ENSP00000371559:p.Asp156Asn		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D156N	ENST00000382125.4	37	c.466	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773605	0.49786	2.27E-4	0.0	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.21031	2.03;2.03;2.03	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.78049	2.395	0.80722	D	1	B	0.25563	0.129	B	0.21151	0.033	T	0.13361	-1.0512	10	0.72032	D	0.01	-2.5233	16.1381	0.81502	0.0:1.0:0.0:0.0	.	156	Q53HC9	TSSC1_HUMAN	N	156;183;156	ENSP00000371559:D156N;ENSP00000381652:D183N;ENSP00000389080:D156N	ENSP00000371559:D156N	D	-	1	0	TSSC1	3196977	1.000000	0.71417	0.781000	0.31783	0.328000	0.28507	6.784000	0.75084	2.465000	0.83290	0.655000	0.94253	GAT	TSSC1	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.413	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	C	NM_003310		3217970	-1	no_errors	ENST00000382125	ensembl	human	known	70_37	missense	SNP	0.997	T	T	3217970	C	T	3217970	3	4	42	1	0	0	0	0	1	0	0	0	16697	826	29	1	717	1	TSSC1	2	3217970	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		3217970	239981403	8	5833										
ALLC	55821	genome.wustl.edu	37	chr2	3749212	3749212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	cccacaagtggaaaccactgCttccagtgaccaaggttcgt	9	13	0	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:3749212C>T	ENST00000252505.3	+	11	1123	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	ALLC_ENST00000471711.1_3'UTR|AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	340					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GAAACCACTGCTTCCAGTGAC	0.488										HNSCC(21;0.051)																																							0													66	64	65					2																	3749212		1949	4149	6098	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.961C>T	2.37:g.3749212C>T	ENSP00000252505:p.Leu321Phe		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.L321F	ENST00000252505.3	37	c.961	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279257	0.40294	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.53	4.53	0.55603	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.91196	3.185	0.46279	D	0.998969	D	0.71674	0.998	D	0.74674	0.984	D	0.88551	0.3116	9	0.87932	D	0	-13.7232	15.1387	0.72590	0.0:1.0:0.0:0.0	.	340	Q8N6M5	ALLC_HUMAN	F	321	.	ENSP00000252505:L321F	L	+	1	0	ALLC	3727087	1.000000	0.71417	0.403000	0.26384	0.019000	0.09904	3.766000	0.55280	2.218000	0.71995	0.655000	0.94253	CTT	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase		0.488	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	C			3749212	1	no_errors	ENST00000252505	ensembl	human	known	70_37	missense	SNP	0.997	T	T	3749212	C	T	3749212	3	4	42	1	0	0	0	0	1	0	0	0	534	797	28	4	999	4	ALLC	2	3749212	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	531242	3749212	239450161	9	5834										
FBXO41	150726	genome.wustl.edu	37	chr2	73495991	73495991	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tccttctcgcgcccgagcctCgcactctcctgccgcgcagt	9	20	2	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:73495991C>A	ENST00000521871.1	-	2	1183	c.768G>T	c.(766-768)gcG>gcT	p.A256A	FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000520530.2_Silent_p.A256A|FBXO41_ENST00000295133.5_Silent_p.A317A			Q8TF61	FBX41_HUMAN	F-box protein 41	256										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCCCGAGCCTCGCACTCTCCT	0.701																																																	0													19	26	24					2																	73495991		2128	4204	6332	SO:0001819	synonymous_variant	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.768G>T	2.37:g.73495991C>A			G3V0Z7|Q2M1V8	Silent	SNP	superfamily_F-box_dom_cyclin-like	p.A317	ENST00000521871.1	37	c.951	CCDS46337.2	2																																																																																			FBXO41	-	NULL		0.701	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	C			73495991	-1	no_errors	ENST00000295133	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73495991	C	A	73495991	2	1	42	1	0	0	0	0	0	0	0	1	5768	871	31	3		3	FBXO41	2	73495991	Silent	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	69746779	73495991	169703382	10	5835										
KDM3A	55818	genome.wustl.edu	37	chr2	86707395	86707395	+	Frame_Shift_Del	DEL	G	G	-													0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	aagcagcctccaagccagccGgcagcatgaagcctgcctgt							TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:86707395delG	ENST00000409556.1	+	17	2787	c.2422delG	c.(2422-2424)ggcfs	p.G808fs	KDM3A_ENST00000312912.5_Frame_Shift_Del_p.G808fs|KDM3A_ENST00000409064.1_Frame_Shift_Del_p.G808fs|KDM3A_ENST00000542128.1_Frame_Shift_Del_p.G756fs			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	808					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G808R(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAAGCCAGCCGGCAGCATGAA	0.562																																					NSCLC(96;1150 1523 6936 46253 49736)												2	Substitution - Missense(2)	prostate(2)											68	74	72					2																	86707395		2203	4300	6503	SO:0001589	frameshift_variant	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2422delG	2.37:g.86707395delG	ENSP00000386660:p.Gly808fs		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Frame_Shift_Del	DEL	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G808fs	ENST00000409556.1	37	c.2422	CCDS1990.1	2																																																																																			KDM3A	-	NULL		0.562	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	G	NM_018433		86707395	1	no_errors	ENST00000312912	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	86707395	G	-	86707395	7	5	42	1	0	1	0	1	0	0	0	0	8146	1116	39	0	2480	0	KDM3A	2	86707395	Frame_Shift_Del	DEL	G	TCGA-C5-A7CH-01A-11D-A33O-09	13211404	86707395	156491978	11	5836										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125671718	125671718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ttctgtatcatcggcatcatGacccggttcctctaccagca	7	14	4	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:125671718G>A	ENST00000431078.1	+	24	4138	c.3774G>A	c.(3772-3774)atG>atA	p.M1258I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1258					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.M1258I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGGCATCATGACCCGGTTCC	0.453																																																	1	Substitution - Missense(1)	lung(1)											177	167	171					2																	125671718		1971	4177	6148	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3774G>A	2.37:g.125671718G>A	ENSP00000399013:p.Met1258Ile		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.M1258I	ENST00000431078.1	37	c.3774	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389185	0.42410	.	.	ENSG00000155052	ENST00000431078	T	0.40756	1.02	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000010	T	0.42381	0.1200	L	0.49126	1.545	0.48185	D	0.999605	P	0.43788	0.817	P	0.44860	0.462	T	0.24083	-1.0170	10	0.02654	T	1	.	19.8072	0.96535	0.0:0.0:1.0:0.0	.	1258	Q8WYK1	CNTP5_HUMAN	I	1258	ENSP00000399013:M1258I	ENSP00000399013:M1258I	M	+	3	0	CNTNAP5	125388188	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.128000	0.57951	2.927000	0.99377	0.637000	0.83480	ATG	CNTNAP5	-	NULL		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	G			125671718	1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125671718	G	A	125671718	3	1	42	1	0	0	0	0	1	0	0	0	3655	1290	45	1	3868	1	CNTNAP5	2	125671718	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	38964323	125671718	117527655	12	5837										
XIRP2	129446	genome.wustl.edu	37	chr2	168099826	168099826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	acactgtagaaaatgcagagAaaattcctgagctagccaga	9	8	0	4			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:168099826A>G	ENST00000409195.1	+	9	2013	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K642E|XIRP2_ENST00000409273.1_Missense_Mutation_p.K420E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	467					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATGCAGAGAAAATTCCTGA	0.433																																																	0													61	63	62					2																	168099826		1913	4113	6026	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1924A>G	2.37:g.168099826A>G	ENSP00000386840:p.Lys642Glu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.K642E	ENST00000409195.1	37	c.1924	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989626	0.53934	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.93	5.93	0.95920	.	0.046324	0.85682	D	0.000000	T	0.04998	0.0134	M	0.67953	2.075	0.49051	D	0.999745	B;P;P	0.34462	0.325;0.454;0.454	B;B;B	0.36504	0.113;0.226;0.226	T	0.46386	-0.9195	10	0.14656	T	0.56	-29.0706	11.4213	0.49982	0.9302:0.0:0.0698:0.0	.	467;467;420	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	642;642;420	ENSP00000386840:K642E;ENSP00000295237:K642E;ENSP00000387255:K420E	ENSP00000295237:K642E	K	+	1	0	XIRP2	167808072	0.943000	0.32029	1.000000	0.80357	0.981000	0.71138	1.926000	0.40084	2.271000	0.75665	0.533000	0.62120	AAA	XIRP2	-	NULL		0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	A	NM_152381		168099826	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.997	G	G	168099826	A	G	168099826	3	3	42	1	0	0	0	0	1	0	0	0	17461	247	9	5	1954	5	XIRP2	2	168099826	Missense_Mutation	SNP	A	TCGA-C5-A7CH-01A-11D-A33O-09	42428108	168099826	75099547	13	5838										
LRP2	4036	genome.wustl.edu	37	chr2	170103431	170103431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	acacactcgctggaaatttgGcaccgggaagcagaagtggc	13	10	0	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:170103431G>A	ENST00000263816.3	-	21	3259	c.2974C>T	c.(2974-2976)Cca>Tca	p.P992S	LRP2_ENST00000443831.1_Missense_Mutation_p.P855S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	992	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGGAAATTTGGCACCGGGAAG	0.547																																																	0													69	64	66					2																	170103431		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2974C>T	2.37:g.170103431G>A	ENSP00000263816:p.Pro992Ser		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P992S	ENST00000263816.3	37	c.2974	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790435	0.90367	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;T	0.44482	0.92;0.92	5.79	5.79	0.91817	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66360	-0.5943	10	0.45353	T	0.12	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	855;992	E9PC35;P98164	.;LRP2_HUMAN	S	992;855	ENSP00000263816:P992S;ENSP00000409813:P855S	ENSP00000263816:P992S	P	-	1	0	LRP2	169811677	1.000000	0.71417	0.991000	0.47740	0.534000	0.34807	9.488000	0.97947	2.746000	0.94184	0.655000	0.94253	CCA	LRP2	-	smart_EG-like_dom		0.547	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170103431	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170103431	G	A	170103431	3	1	42	1	0	0	0	0	1	0	0	0	8979	1203	42	4	11229	4	LRP2	2	170103431	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	2003605	170103431	73095942	14	5839										
FSIP2	401024	genome.wustl.edu	37	chr2	186665466	186665466	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	cgtaagggaggaatggactgTgaatgccttcaagtagatta	13	5	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:186665466T>C	ENST00000424728.1	+	17	11433	c.11433T>C	c.(11431-11433)tgT>tgC	p.C3811C	FSIP2_ENST00000343098.5_Silent_p.C3900C|AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3811										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAATGGACTGTGAATGCCTTC	0.368																																																	0																																										SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11433T>C	2.37:g.186665466T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.C3900	ENST00000424728.1	37	c.11700		2																																																																																			FSIP2	-	NULL		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	T	NM_173651		186665466	1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.046	C	C	186665466	T	C	186665466	2	2	42	1	0	0	0	0	0	0	0	1	6093	1702	59	5		5	FSIP2	2	186665466	Silent	SNP	T	TCGA-C5-A7CH-01A-11D-A33O-09	16562035	186665466	56533907	15	5840										
ZDBF2	57683	genome.wustl.edu	37	chr2	207169840	207169840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tgtttacctgaaagctctaaCgatagaccagttacagctaa	7	9	1	2	rs538759150	byFrequency	TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:207169840C>T	ENST00000374423.3	+	5	974	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	196							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGCTCTAACGATAGACCAG	0.403													C|||	2	0.000399361	0	0	5008	,	,		18433	0.002		0	False		,,,				2504	0																0													53	54	54					2																	207169840		1854	4100	5954	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.588C>T	2.37:g.207169840C>T			Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.N196	ENST00000374423.3	37	c.588	CCDS46501.1	2																																																																																			ZDBF2	-	NULL		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207169840	1	no_errors	ENST00000374423	ensembl	human	known	70_37	silent	SNP	0.000	T	T	207169840	C	T	207169840	2	4	42	1	0	0	0	0	0	0	0	1	17629	535	19	2		2	ZDBF2	2	207169840	Silent	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	20504374	207169840	36029533	16	5841										
GRIP2	80852	genome.wustl.edu	37	chr3	14548415	14548415	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gctgctggcaggcctcctttCagggcatctgctgggtcctc	13	14	2	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:14548415C>T	ENST00000273083.3	-	0	2356							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCCTCCTTTCAGGGCATCTG	0.642																																																	0													21	25	24					3																	14548415		2030	4173	6203			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548415C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.642	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14548415	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.017	T	T	14548415	C	T	14548415	1	4	42	0	1	0	0	0	0	0	0	0	6808	813	29	1		1	GRIP2	3	14548415	RNA	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		14548415	183474015	17	5842										
TMEM115	11070	genome.wustl.edu	37	chr3	50396227	50396227	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	caaggccccccagaggggctCcagcaaacgcccggccacca	11	19	0	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:50396227C>G	ENST00000266025.3	-	1	814	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	90					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGAGGGGCTCCAGCAAACGC	0.627																																																	0													54	66	62					3																	50396227		2203	4300	6503	SO:0001583	missense	11070			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.268G>C	3.37:g.50396227C>G	ENSP00000266025:p.Glu90Gln		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	pfam_DUF1751_Mem_euk	p.E90Q	ENST00000266025.3	37	c.268	CCDS2828.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901944	0.92035	.	.	ENSG00000126062	ENST00000266025	T	0.21543	2.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65438	-0.6168	10	0.87932	D	0	1.1223	17.9911	0.89169	0.0:1.0:0.0:0.0	.	90	Q12893	TM115_HUMAN	Q	90	ENSP00000266025:E90Q	ENSP00000266025:E90Q	E	-	1	0	TMEM115	50371231	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.498000	0.81546	2.612000	0.88384	0.563000	0.77884	GAG	TMEM115	-	pfam_DUF1751_Mem_euk		0.627	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	C	NM_007024		50396227	-1	no_errors	ENST00000266025	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50396227	C	G	50396227	3	3	42	1	0	0	0	0	1	0	0	0	16059	864	30	1	795	1	TMEM115	3	50396227	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	35847812	50396227	147626203	18	5843										
STAG1	10274	genome.wustl.edu	37	chr3	136196132	136196132	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ttagaacagagtaacttaccCtgtcatgaagagtccagcca	8	10	1	4	rs143925042		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:136196132C>A	ENST00000383202.2	-	10	1281	c.1025G>T	c.(1024-1026)aGg>aTg	p.R342M	STAG1_ENST00000236698.5_Splice_Site_p.R342M|STAG1_ENST00000434713.2_Splice_Site_p.R116M	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	342	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAACTTACCCTGTCATGAAG	0.358																																																	0													128	115	119					3																	136196132		2203	4299	6502	SO:0001630	splice_region_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1026+1G>T	3.37:g.136196132C>A			O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R342M	ENST00000383202.2	37	c.1025	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767156	0.90020	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.32988	1.43;1.43;1.43	5.09	5.09	0.68999	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54397	0.932;0.966;0.932	P;P;P	0.55667	0.593;0.781;0.702	T	0.45585	-0.9251	10	0.87932	D	0	.	18.8476	0.92213	0.0:1.0:0.0:0.0	.	359;342;342	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	M	342;342;116	ENSP00000372689:R342M;ENSP00000236698:R342M;ENSP00000404396:R116M	ENSP00000236698:R342M	R	-	2	0	STAG1	137678822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.511000	0.84671	0.655000	0.94253	AGG	STAG1	-	superfamily_ARM-type_fold		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	C	NM_005862	Missense_Mutation	136196132	-1	no_errors	ENST00000383202	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136196132	C	A	136196132	5	1	42	1	0	0	0	0	0	0	1	0	15272	695	24	4	2851	4	STAG1	3	136196132	Splice_Site	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	85799905	136196132	61826298	19	5844										
GRXCR1	389207	genome.wustl.edu	37	chr4	42965046	42965046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gtaaaatttgaagagaaaaaCatagccctgaatggtgaata	9	4	0	4			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr4:42965046C>T	ENST00000399770.2	+	2	522	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	174	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAGAGAAAAACATAGCCCTGA	0.433																																																	0													245	243	244					4																	42965046		1872	4109	5981	SO:0001819	synonymous_variant	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.522C>T	4.37:g.42965046C>T				Silent	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.N174	ENST00000399770.2	37	c.522	CCDS43225.1	4																																																																																			GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold		0.433	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	C	NM_001080476		42965046	1	no_errors	ENST00000399770	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42965046	C	T	42965046	2	4	42	1	0	0	0	0	0	0	0	1	6832	477	17	4		4	GRXCR1	4	42965046	Silent	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		42965046	148189230	20	5845										
SYNPO	11346	genome.wustl.edu	37	chr5	150028582	150028582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	cttttgggatccaggcgccaGggggcaccagccagatggag	16	11	0	1	rs138102891	byFrequency	TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr5:150028582G>T	ENST00000394243.1	+	3	1851	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SYNPO_ENST00000522122.1_Missense_Mutation_p.G493W|SYNPO_ENST00000519664.1_Missense_Mutation_p.G249W|SYNPO_ENST00000307662.4_Missense_Mutation_p.G249W	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	493					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGCGCCAGGGGGCACCAG	0.642																																																	0													56	59	58					5																	150028582		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1477G>T	5.37:g.150028582G>T	ENSP00000377789:p.Gly493Trp		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.G493W	ENST00000394243.1	37	c.1477	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571104	0.45798	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.27720	1.65;1.65;1.7	5.49	4.62	0.57501	.	0.233990	0.30320	N	0.009895	T	0.38983	0.1061	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.995;0.998	D;D	0.71870	0.939;0.975	T	0.14035	-1.0487	10	0.37606	T	0.19	-20.8321	10.1832	0.42982	0.0918:0.0:0.9082:0.0	.	249;493	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	W	493;493;249;249	ENSP00000377789:G493W;ENSP00000428378:G493W;ENSP00000429268:G249W	ENSP00000302139:G249W	G	+	1	0	SYNPO	150008775	.	.	0.023000	0.16930	0.995000	0.86356	.	.	1.309000	0.44985	0.561000	0.74099	GGG	SYNPO	-	NULL		0.642	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	G	NM_007286		150028582	1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.037	T	T	150028582	G	T	150028582	3	4	42	1	0	0	0	0	1	0	0	0	15486	1000	35	4	1483	4	SYNPO	5	150028582	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		150028582	30886678	21	5846										
GABRG2	2566	genome.wustl.edu	37	chr5	161576257	161576257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ctctggtggagtatggcaccTtgcattattttgtcagcaac	10	9	2	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr5:161576257T>A	ENST00000361925.4	+	8	1286	c.1066T>A	c.(1066-1068)Ttg>Atg	p.L356M	GABRG2_ENST00000414552.2_Missense_Mutation_p.L396M|GABRG2_ENST00000393933.4_Missense_Mutation_p.L261M|GABRG2_ENST00000356592.3_Missense_Mutation_p.L356M			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	356					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGGCACCTTGCATTATTT	0.413																																																	0													200	167	179					5																	161576257		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1066T>A	5.37:g.161576257T>A	ENSP00000354651:p.Leu356Met		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L356M	ENST00000361925.4	37	c.1066	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883554	0.72410	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.61	4.72	0.59763	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.138458	0.49916	D	0.000140	D	0.91781	0.7400	M	0.84082	2.675	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92124	0.5706	10	0.87932	D	0	.	10.362	0.44001	0.0:0.8308:0.0:0.1692	.	396;356;356	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	M	356;396;356;261	ENSP00000349000:L356M;ENSP00000410732:L396M;ENSP00000354651:L356M;ENSP00000377510:L261M	ENSP00000349000:L356M	L	+	1	2	GABRG2	161508835	0.557000	0.26546	1.000000	0.80357	0.999000	0.98932	0.809000	0.27168	1.297000	0.44761	0.528000	0.53228	TTG	GABRG2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel		0.413	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	T			161576257	1	no_errors	ENST00000356592	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161576257	T	A	161576257	3	1	42	1	0	0	0	0	1	0	0	0	6190	1606	56	5	1220	5	GABRG2	5	161576257	Missense_Mutation	SNP	T	TCGA-C5-A7CH-01A-11D-A33O-09	11547675	161576257	19339003	22	5847										
IP6K3	117283	genome.wustl.edu	37	chr6	33690845	33690845	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	atgggctccaggagctccctCcggaggtggcttccattatg	13	12	0	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr6:33690845C>T	ENST00000293756.4	-	6	1211	c.885G>A	c.(883-885)cgG>cgA	p.R295R	IP6K3_ENST00000451316.1_Silent_p.R295R	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	295					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGAGCTCCCTCCGGAGGTGGC	0.522																																																	0													46	53	50					6																	33690845		2203	4300	6503	SO:0001819	synonymous_variant	117283			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.885G>A	6.37:g.33690845C>T			Q96MQ9	Silent	SNP	pfam_IPK	p.R295	ENST00000293756.4	37	c.885	CCDS34435.1	6																																																																																			IP6K3	-	pfam_IPK		0.522	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	C	NM_054111		33690845	-1	no_errors	ENST00000293756	ensembl	human	known	70_37	silent	SNP	0.001	T	T	33690845	C	T	33690845	2	4	42	1	0	0	0	0	0	0	0	1	7810	842	30	1		1	IP6K3	6	33690845	Silent	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		33690845	137424222	23	5848										
SCUBE3	222663	genome.wustl.edu	37	chr6	35214037	35214037	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	agatggccggctctatgcctCtgaaaaccaccaggagattt	10	11	2	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr6:35214037C>T	ENST00000274938.7	+	21	2807	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F	SCUBE3_ENST00000394681.1_Missense_Mutation_p.S952F	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTCTATGCCTCTGAAAACCAC	0.443																																																	0													123	127	126					6																	35214037		2203	4300	6503	SO:0001583	missense	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2807C>T	6.37:g.35214037C>T	ENSP00000274938:p.Ser936Phe			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin	p.S952F	ENST00000274938.7	37	c.2855	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916585	0.92249	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.84223	-1.4;-1.82	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.88299	0.2948	10	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	952;936	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	F	952;936	ENSP00000378174:S952F;ENSP00000274938:S936F	ENSP00000274938:S936F	S	+	2	0	SCUBE3	35322015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.808000	0.96608	0.650000	0.86243	TCT	SCUBE3	-	NULL		0.443	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	C	NM_152753		35214037	1	no_errors	ENST00000394681	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35214037	C	T	35214037	3	4	42	1	0	0	0	0	1	0	0	0	13976	913	32	1	2889	1	SCUBE3	6	35214037	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	1523192	35214037	135901030	24	5849										
CRISP1	167	genome.wustl.edu	37	chr6	49814315	49814315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ttgtagactcactgtaccagActccaattacacttgaccat	5	12	1	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr6:49814315A>G	ENST00000335847.4	-	5	454	c.353T>C	c.(352-354)gTc>gCc	p.V118A	CRISP1_ENST00000536021.1_Missense_Mutation_p.V118A|CRISP1_ENST00000329411.5_Missense_Mutation_p.V118A|CRISP1_ENST00000507853.1_Missense_Mutation_p.V118A|CRISP1_ENST00000505118.1_Missense_Mutation_p.V118A|CRISP1_ENST00000355791.2_Missense_Mutation_p.V118A	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	118	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ACTGTACCAGACTCCAATTAC	0.418																																																	0													322	260	281					6																	49814315		2203	4300	6503	SO:0001583	missense	167			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.353T>C	6.37:g.49814315A>G	ENSP00000338276:p.Val118Ala		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.V118A	ENST00000335847.4	37	c.353	CCDS4931.1	6	.	.	.	.	.	.	.	.	.	.	A	1.153	-0.645985	0.03531	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26	5.35	0.0677	0.14367	CAP domain (3);	1.000140	0.08070	N	0.999690	T	0.00936	0.0031	N	0.01729	-0.75	0.09310	N	1	B;P	0.39576	0.009;0.679	B;B	0.39217	0.005;0.294	T	0.42832	-0.9428	9	.	.	.	.	7.8118	0.29237	0.6087:0.0:0.3913:0.0	.	118;118	P54107-2;P54107	.;CRIS1_HUMAN	A	118	ENSP00000425020:V118A;ENSP00000338276:V118A;ENSP00000348044:V118A;ENSP00000331317:V118A;ENSP00000427589:V118A;ENSP00000441798:V118A	.	V	-	2	0	CRISP1	49922274	0.000000	0.05858	0.039000	0.18376	0.038000	0.13279	-0.384000	0.07389	-0.213000	0.10094	-0.408000	0.06270	GTC	CRISP1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen		0.418	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	A	NM_001131		49814315	-1	no_errors	ENST00000335847	ensembl	human	known	70_37	missense	SNP	0.118	G	G	49814315	A	G	49814315	3	3	42	1	0	0	0	0	1	0	0	0	3884	275	10	5	412	5	CRISP1	6	49814315	Missense_Mutation	SNP	A	TCGA-C5-A7CH-01A-11D-A33O-09	14600278	49814315	121300752	25	5850										
C7orf31	136895	genome.wustl.edu	37	chr7	25176304	25176304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	agtacaatctggacaggaacGtggtctttgctggactatag	12	7	2	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:25176304G>A	ENST00000409280.1	-	10	1368	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	354										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGACAGGAACGTGGTCTTTGC	0.458																																																	0													117	120	119					7																	25176304		2203	4300	6503	SO:0001583	missense	136895			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1060C>T	7.37:g.25176304G>A	ENSP00000386604:p.Arg354Cys		A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	NULL	p.R354C	ENST00000409280.1	37	c.1060	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	G	4.704	0.130914	0.08981	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.75	0.495	0.16890	.	1.150600	0.06146	N	0.673264	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	P	0.49358	0.923	B	0.38712	0.28	T	0.22765	-1.0207	10	0.54805	T	0.06	-4.808	1.6533	0.02776	0.1607:0.1325:0.4018:0.305	.	354	Q8N865	CG031_HUMAN	C	354	ENSP00000386604:R354C;ENSP00000283905:R354C	ENSP00000283905:R354C	R	-	1	0	C7orf31	25142829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.195000	0.10382	-0.218000	0.12543	CGT	C7orf31	-	NULL		0.458	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	G	NM_138811		25176304	-1	no_errors	ENST00000283905	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25176304	G	A	25176304	3	1	42	1	0	0	0	0	1	0	0	0	2392	1145	40	2	716	2	C7orf31	7	25176304	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		25176304	133962359	26	5851										
TNS3	64759	genome.wustl.edu	37	chr7	47408264	47408264	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gtttgaacgctttgctgggaGagggctgctgtgtgtcaggg	18	6	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:47408264G>C	ENST00000398879.1	-	17	2345	c.1979C>G	c.(1978-1980)tCt>tGt	p.S660C	TNS3_ENST00000311160.9_Missense_Mutation_p.S660C|TNS3_ENST00000355730.3_Missense_Mutation_p.S420C			Q68CZ2	TENS3_HUMAN	tensin 3	660					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTGCTGGGAGAGGGCTGCTG	0.657																																																	0													95	110	105					7																	47408264		2069	4213	6282	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1979C>G	7.37:g.47408264G>C	ENSP00000381854:p.Ser660Cys		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S660C	ENST00000398879.1	37	c.1979	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430873	0.04669	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94000	-2.88;-2.88;-3.33;-2.98	5.45	-1.49	0.08718	.	2.117000	0.01902	N	0.039277	D	0.82623	0.5077	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71839	-0.4471	10	0.33940	T	0.23	1.059	1.4553	0.02383	0.417:0.2073:0.247:0.1287	.	660	Q68CZ2	TENS3_HUMAN	C	660;770;660;420;116;763	ENSP00000312143:S660C;ENSP00000381854:S660C;ENSP00000347968:S420C;ENSP00000414358:S763C	ENSP00000312143:S660C	S	-	2	0	TNS3	47374789	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.177000	0.16801	-0.367000	0.08052	0.655000	0.94253	TCT	TNS3	-	NULL		0.657	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47408264	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	0.000	C	C	47408264	G	C	47408264	3	2	42	1	0	0	0	0	1	0	0	0	16374	942	33	1	2418	1	TNS3	7	47408264	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	22231960	47408264	111730399	27	5852										
ADCK2	90956	genome.wustl.edu	37	chr7	140374050	140374050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tgaggccaccaacctcatctCcgtggcagtgaaagtaagtg	11	11	2	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:140374050C>A	ENST00000072869.4	+	1	1098	c.920C>A	c.(919-921)tCc>tAc	p.S307Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.S307Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AACCTCATCTCCGTGGCAGTG	0.557																																																	0													44	47	46					7																	140374050		2203	4300	6503	SO:0001583	missense	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.920C>A	7.37:g.140374050C>A	ENSP00000072869:p.Ser307Tyr		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.S307Y	ENST00000072869.4	37	c.920	CCDS5861.1	7	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047362	0.36085	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.55588	0.51;0.51	4.06	3.15	0.36227	ABC-1 (1);	0.222345	0.38326	N	0.001726	T	0.31638	0.0803	N	0.05158	-0.105	0.19775	N	0.999954	B;B	0.21753	0.052;0.06	B;B	0.17979	0.02;0.017	T	0.34725	-0.9817	10	0.87932	D	0	-10.3382	12.8495	0.57850	0.1643:0.8357:0.0:0.0	.	307;307	C9JE15;Q7Z695	.;ADCK2_HUMAN	Y	307	ENSP00000072869:S307Y;ENSP00000420512:S307Y	ENSP00000072869:S307Y	S	+	2	0	ADCK2	140020519	0.988000	0.35896	0.590000	0.28732	0.585000	0.36419	3.484000	0.53201	0.894000	0.36317	0.561000	0.74099	TCC	ADCK2	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	C	NM_052853		140374050	1	no_errors	ENST00000072869	ensembl	human	known	70_37	missense	SNP	0.968	A	A	140374050	C	A	140374050	3	1	42	1	0	0	0	0	1	0	0	0	289	855	30	3	922	3	ADCK2	7	140374050	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	92965786	140374050	18764613	28	5853										
ZNF398	57541	genome.wustl.edu	37	chr7	148863295	148863295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ccatctacttttccactccaGagtgggaaaaattagaagaa	7	9	1	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:148863295G>C	ENST00000475153.1	+	3	733	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E161Q|ZNF398_ENST00000485111.1_3'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	156	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|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.E156K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCCACTCCAGAGTGGGAAAA	0.408																																																	1	Substitution - Missense(1)	lung(1)											116	115	115					7																	148863295		2203	4300	6503	SO:0001583	missense	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.466G>C	7.37:g.148863295G>C	ENSP00000420418:p.Glu156Gln		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E161Q	ENST00000475153.1	37	c.481	CCDS5894.1	7	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380794	0.82792	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.11604	2.76;2.76	5.24	5.24	0.73138	Krueppel-associated box (4);	0.000000	0.43416	D	0.000572	T	0.43787	0.1263	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.995;0.998	T	0.56475	-0.7973	10	0.87932	D	0	-21.0208	16.328	0.82994	0.0:0.0:1.0:0.0	.	161;156	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	156;161	ENSP00000420418:E156Q;ENSP00000439340:E161Q	ENSP00000420418:E156Q	E	+	1	0	ZNF398	148494228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.779000	0.68948	2.444000	0.82710	0.563000	0.77884	GAG	ZNF398	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.408	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	HGNC	protein_coding	OTTHUMT00000352722.2	G			148863295	1	no_errors	ENST00000540950	ensembl	human	known	70_37	missense	SNP	1.000	C	C	148863295	G	C	148863295	3	2	42	1	0	0	0	0	1	0	0	0	17915	943	33	1	476	1	ZNF398	7	148863295	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	8489245	148863295	10275368	29	5854										
MLL3	58508	genome.wustl.edu	37	chr7	151849976	151849976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	atctggagcactgctaacctCatagctgttagggattcgga	11	9	2	0			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:151849976C>T	ENST00000262189.6	-	49	12558	c.12340G>A	c.(12340-12342)Gag>Aag	p.E4114K	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000355193.2_Missense_Mutation_p.E4171K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4114					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTGCTAACCTCATAGCTGTTA	0.478																																																	0													123	120	121					7																	151849976		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12340G>A	7.37:g.151849976C>T	ENSP00000262189:p.Glu4114Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4171K	ENST00000262189.6	37	c.12511	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936187	0.73442	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.92099	-2.3;-2.24;-2.97	5.84	5.84	0.93424	.	0.000000	0.45126	U	0.000400	D	0.96100	0.8729	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.997	D	0.95499	0.8576	10	0.54805	T	0.06	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	4114;3232;4171	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	K	4114;4171;731	ENSP00000262189:E4114K;ENSP00000347325:E4171K;ENSP00000410411:E731K	ENSP00000262189:E4114K	E	-	1	0	MLL3	151480909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.764000	0.94973	0.655000	0.94253	GAG	MLL3	-	NULL		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151849976	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151849976	C	T	151849976	3	4	42	1	0	0	0	0	1	0	0	0	9645	835	29	1	2439	1	MLL3	7	151849976	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	2986681	151849976	7288687	30	5855										
CSMD1	64478	genome.wustl.edu	37	chr8	2813245	2813245	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	aagtaggaagatcgatggctCtcacatccgcgtgtgccggg	14	10	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr8:2813245C>G	ENST00000520002.1	-	65	10418	c.9863G>C	c.(9862-9864)aGa>aCa	p.R3288T	CSMD1_ENST00000537824.1_Missense_Mutation_p.R3287T|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3288T|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3111T|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3111T|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3110T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3288	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCGATGGCTCTCACATCCGC	0.483																																																	0													146	143	144					8																	2813245		1977	4166	6143	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9863G>C	8.37:g.2813245C>G	ENSP00000430733:p.Arg3288Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R3288T	ENST00000520002.1	37	c.9863		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.437715|1.437715	0.25900|0.25900	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.62364	.|0.03;0.03;0.03;0.03	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.071976	.|0.52532	.|D	.|0.000078	T|T	0.57359|0.57359	0.2048|0.2048	N|N	0.12527|0.12527	0.23|0.23	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.64830	.|0.994;0.063;0.64	.|D;B;P	.|0.75020	.|0.985;0.139;0.627	T|T	0.52931|0.52931	-0.8509|-0.8509	5|10	.|0.08179	.|T	.|0.78	.|.	10.7635|10.7635	0.46279|0.46279	0.0:0.8853:0.0:0.1147|0.0:0.8853:0.0:0.1147	.|.	.|3288;3288;3110	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	D|T	2704|3111;3288;3149;3287;3110	.|ENSP00000383047:R3111T;ENSP00000430733:R3288T;ENSP00000441462:R3287T;ENSP00000446243:R3110T	.|ENSP00000320445:R3149T	E|R	-|-	3|2	2|0	CSMD1|CSMD1	2800652|2800652	1.000000|1.000000	0.71417|0.71417	0.247000|0.247000	0.24249|0.24249	0.388000|0.388000	0.30384|0.30384	4.699000|4.699000	0.61796|0.61796	2.656000|2.656000	0.90262|0.90262	0.460000|0.460000	0.39030|0.39030	GAG|AGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2813245	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.998	G	G	2813245	C	G	2813245	3	3	42	1	0	0	0	0	1	0	0	0	3949	913	32	1	862	1	CSMD1	8	2813245	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		2813245	143550777	31	5856										
CSMD1	64478	genome.wustl.edu	37	chr8	4277496	4277496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ttcatataatgctttgaaacCttgggcactcacagcgaagt	8	9	2	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr8:4277496C>A	ENST00000520002.1	-	3	949	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	CSMD1_ENST00000537824.1_Missense_Mutation_p.G132C|CSMD1_ENST00000602557.1_Missense_Mutation_p.G132C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G132C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G132C|CSMD1_ENST00000542608.1_Missense_Mutation_p.G132C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G132C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	132	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTTGAAACCTTGGGCACTC	0.408																																																	0													60	58	59					8																	4277496		1938	4140	6078	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.394G>T	8.37:g.4277496C>A	ENSP00000430733:p.Gly132Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G132C	ENST00000520002.1	37	c.394		8	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718238	0.68844	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.57	5.57	0.84162	.	.	.	.	.	T	0.76765	0.4033	H	0.98802	4.335	0.46701	D	0.999162	D	0.89917	1.0	D	0.97110	1.0	D	0.86131	0.1575	9	0.87932	D	0	.	17.3915	0.87432	0.0:1.0:0.0:0.0	.	132	E5RIG2	.	C	132	ENSP00000383047:G132C;ENSP00000430733:G132C;ENSP00000441462:G132C;ENSP00000446243:G132C;ENSP00000441675:G132C	ENSP00000383047:G132C	G	-	1	0	CSMD1	4264904	1.000000	0.71417	0.965000	0.40720	0.338000	0.28826	6.918000	0.75788	2.775000	0.95449	0.650000	0.86243	GGT	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		4277496	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4277496	C	A	4277496	3	1	42	1	0	0	0	0	1	0	0	0	3949	681	24	4	10385	4	CSMD1	8	4277496	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	1464251	4277496	142086526	32	5857										
ROR2	4920	genome.wustl.edu	37	chr9	94488984	94488984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tggaattgcgatgctggggaCcaagatgtacagaatcccca	12	9	0	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr9:94488984C>A	ENST00000375708.3	-	8	1423	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V269F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	409					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGCTGGGGACCAAGATGTAC	0.498																																																	0													109	95	100					9																	94488984		2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1225G>T	9.37:g.94488984C>A	ENSP00000364860:p.Val409Phe		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V409F	ENST00000375708.3	37	c.1225	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404352	0.42613	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.79845	-1.31;-1.31	4.86	4.86	0.63082	Kringle-like fold (1);	0.000000	0.38005	N	0.001852	T	0.79387	0.4437	N	0.24115	0.695	0.58432	D	0.999999	D;P	0.53619	0.961;0.84	P;B	0.52758	0.708;0.374	T	0.81642	-0.0840	10	0.52906	T	0.07	.	18.1763	0.89762	0.0:1.0:0.0:0.0	.	409;269	Q01974;B1APY4	ROR2_HUMAN;.	F	269;409	ENSP00000364867:V269F;ENSP00000364860:V409F	ENSP00000364860:V409F	V	-	1	0	ROR2	93528805	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	2.922000	0.48860	2.529000	0.85273	0.561000	0.74099	GTC	ROR2	-	superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR		0.498	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94488984	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94488984	C	A	94488984	3	1	42	1	0	0	0	0	1	0	0	0	13557	507	18	4	1614	4	ROR2	9	94488984	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		94488984	46724447	33	5858										
SEC24C	9632	genome.wustl.edu	37	chr10	75530081	75530081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	taccgaaccaccagcagttcGagcctctgaagagcgtctaa	9	13	2	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr10:75530081G>A	ENST00000339365.2	+	22	3068	c.2906G>A	c.(2905-2907)cGa>cAa	p.R969Q	FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000535742.1_Missense_Mutation_p.R217Q|SEC24C_ENST00000345254.4_Missense_Mutation_p.R969Q|SEC24C_ENST00000540668.1_Missense_Mutation_p.R217Q|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.R850Q	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	969					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCAGCAGTTCGAGCCTCTGAA	0.507																																																	0													211	216	214					10																	75530081		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2906G>A	10.37:g.75530081G>A	ENSP00000343405:p.Arg969Gln		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R969Q	ENST00000339365.2	37	c.2906	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999576	0.93227	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.81	5.81	0.92471	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.923;0.985	T	0.53795	-0.8388	10	0.35671	T	0.21	-7.3224	20.0702	0.97718	0.0:0.0:1.0:0.0	.	850;969	E7EP00;P53992	.;SC24C_HUMAN	Q	217;969;217;969;850	ENSP00000446174:R217Q;ENSP00000321845:R969Q;ENSP00000445023:R217Q;ENSP00000343405:R969Q;ENSP00000402913:R850Q	ENSP00000343405:R969Q	R	+	2	0	SEC24C	75200087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.652000	0.98499	2.733000	0.93635	0.655000	0.94253	CGA	SEC24C	-	pfam_Gelsolin_dom		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75530081	1	no_errors	ENST00000339365	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75530081	G	A	75530081	3	1	42	1	0	0	0	0	1	0	0	0	14026	1058	37	1	2984	1	SEC24C	10	75530081	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		75530081	60004666	34	5859										
KNDC1	85442	genome.wustl.edu	37	chr10	135015330	135015330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gaggccgactgcttcggggcCgacgtccacaactacgtgaa	13	13	0	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr10:135015330C>T	ENST00000304613.3	+	17	3336	c.3315C>T	c.(3313-3315)gcC>gcT	p.A1105A	KNDC1_ENST00000368571.2_Silent_p.A1040A|KNDC1_ENST00000368572.2_Silent_p.A1107A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1105					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTTCGGGGCCGACGTCCACA	0.726																																																	0													5	6	6					10																	135015330		2114	4165	6279	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3315C>T	10.37:g.135015330C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A1107	ENST00000304613.3	37	c.3321	CCDS7674.1	10																																																																																			KNDC1	-	NULL		0.726	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	C	NM_152643		135015330	1	no_errors	ENST00000368572	ensembl	human	known	70_37	silent	SNP	0.055	T	T	135015330	C	T	135015330	2	4	42	1	0	0	0	0	0	0	0	1	8446	639	23	2		2	KNDC1	10	135015330	Silent	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	59485249	135015330	519417	35	5860										
PHF21A	51317	genome.wustl.edu	37	chr11	45992778	45992778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tgcacatcagtgctgagcacAgccttctgactgttgatggc	11	11	2	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:45992778A>G	ENST00000418153.2	-	7	700	c.501T>C	c.(499-501)gcT>gcC	p.A167A	PHF21A_ENST00000257821.4_Silent_p.A167A|PHF21A_ENST00000323180.6_Silent_p.A167A			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	167					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCTGAGCACAGCCTTCTGAC	0.542																																																	0													158	138	145					11																	45992778		2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.501T>C	11.37:g.45992778A>G			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A167	ENST00000418153.2	37	c.501	CCDS44578.1	11																																																																																			PHF21A	-	NULL		0.542	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	A	NM_016621		45992778	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	silent	SNP	0.999	G	G	45992778	A	G	45992778	2	3	42	1	0	0	0	0	0	0	0	1	11857	175	7	5		5	PHF21A	11	45992778	Silent	SNP	A	TCGA-C5-A7CH-01A-11D-A33O-09		45992778	89013738	36	5861										
OR4C6	219432	genome.wustl.edu	37	chr11	55432790	55432790	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ttgtggtaactattatcacaAgtcagagtctgaggtcacct	9	8	4	2	rs200014503		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:55432790A>T	ENST00000314259.3	+	1	177	c.148A>T	c.(148-150)Agt>Tgt	p.S50C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATTATCACAAGTCAGAGTCT	0.408																																																	0													280	250	260					11																	55432790		2200	4296	6496	SO:0001583	missense	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.148A>T	11.37:g.55432790A>T	ENSP00000324769:p.Ser50Cys		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S50C	ENST00000314259.3	37	c.148	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375612	0.42105	.	.	ENSG00000181903	ENST00000314259	T	0.01113	5.32	3.83	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.153264	0.30593	N	0.009294	T	0.04952	0.0133	M	0.84219	2.685	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18681	-1.0329	10	0.87932	D	0	.	2.8612	0.05588	0.508:0.0:0.1157:0.3763	.	50	Q8NH72	OR4C6_HUMAN	C	50	ENSP00000324769:S50C	ENSP00000324769:S50C	S	+	1	0	OR4C6	55189366	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	-0.874000	0.04210	1.387000	0.46486	0.444000	0.29173	AGT	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	A	NM_001004704		55432790	1	no_errors	ENST00000314259	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55432790	A	T	55432790	3	4	42	1	0	0	0	0	1	0	0	0	11076	72	3	5	150	5	OR4C6	11	55432790	Missense_Mutation	SNP	A	TCGA-C5-A7CH-01A-11D-A33O-09	9440012	55432790	79573726	37	5862										
OR10AG1	282770	genome.wustl.edu	37	chr11	55735637	55735637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	actgtcagaaggagacactcCgtgcctccaagcataagaaa	9	11	1	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:55735637C>T	ENST00000312345.2	-	1	353	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GGAGACACTCCGTGCCTCCAA	0.428																																																	0													90	89	90					11																	55735637		2201	4296	6497	SO:0001819	synonymous_variant	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.303G>A	11.37:g.55735637C>T			B2RNH4|Q6IEU3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T101	ENST00000312345.2	37	c.303	CCDS31514.1	11																																																																																			OR10AG1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	C	NM_001005491		55735637	-1	no_errors	ENST00000312345	ensembl	human	known	70_37	silent	SNP	0.001	T	T	55735637	C	T	55735637	2	4	42	1	0	0	0	0	0	0	0	1	10921	639	23	2		2	OR10AG1	11	55735637	Silent	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	302847	55735637	79270879	38	5863										
MS4A14	84689	genome.wustl.edu	37	chr11	60183703	60183703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	catattacctgaagcctcaaCatcccatattgtgcagttcc	5	13	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:60183703C>T	ENST00000300187.6	+	5	1539	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	MS4A14_ENST00000395005.2_Missense_Mutation_p.T404I|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.T454I|MS4A14_ENST00000531787.1_Missense_Mutation_p.T309I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	421						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GAAGCCTCAACATCCCATATT	0.463																																																	0													98	92	94					11																	60183703		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1262C>T	11.37:g.60183703C>T	ENSP00000300187:p.Thr421Ile		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.T421I	ENST00000300187.6	37	c.1262	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927782	0.34002	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37411	1.2;2.42;1.21;2.76	2.72	0.733	0.18289	.	.	.	.	.	T	0.18130	0.0435	N	0.24115	0.695	0.09310	N	1	P;B	0.37101	0.582;0.447	B;B	0.31614	0.133;0.063	T	0.13124	-1.0521	9	0.46703	T	0.11	-0.9644	2.6956	0.05134	0.2835:0.5504:0.0:0.1661	.	404;421	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	309;421;404;454	ENSP00000437222:T309I;ENSP00000300187:T421I;ENSP00000378453:T404I;ENSP00000433761:T454I	ENSP00000300187:T421I	T	+	2	0	MS4A14	59940279	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.451000	0.06795	0.184000	0.20083	-0.188000	0.12872	ACA	MS4A14	-	NULL		0.463	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	C			60183703	1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	0.000	T	T	60183703	C	T	60183703	3	4	42	1	0	0	0	0	1	0	0	0	9881	478	17	4	1280	4	MS4A14	11	60183703	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	4448066	60183703	74822813	39	5864										
ETS1	2113	genome.wustl.edu	37	chr11	128359203	128359203	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	acctttctgcaggatctctaGatgttcccataagatgtccc	7	12	2	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:128359203G>A	ENST00000319397.6	-	3	694	c.385C>T	c.(385-387)Cta>Tta	p.L129L	ETS1_ENST00000526145.2_Silent_p.L129L|ETS1_ENST00000392668.4_Silent_p.L173L|ETS1_ENST00000345075.4_Silent_p.L129L|ETS1_ENST00000531611.1_Silent_p.L129L|ETS1_ENST00000535549.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	129	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGGATCTCTAGATGTTCCCAT	0.522																																																	0													201	199	199					11																	128359203		2201	4297	6498	SO:0001819	synonymous_variant	2113				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.385C>T	11.37:g.128359203G>A			A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.L173	ENST00000319397.6	37	c.517	CCDS8475.1	11																																																																																			ETS1	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	G	NM_005238		128359203	-1	no_errors	ENST00000392668	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128359203	G	A	128359203	2	1	42	1	0	0	0	0	0	0	0	1	5287	933	33	1		1	ETS1	11	128359203	Silent	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	68175500	128359203	6647313	40	5865										
DENND5B	160518	genome.wustl.edu	37	chr12	31577564	31577564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	caggccggtgatgtttgcttCtccatggccaagttccaccg	11	13	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr12:31577564C>T	ENST00000389082.5	-	10	2560	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	DENND5B_ENST00000306833.6_Missense_Mutation_p.E801K|DENND5B_ENST00000536562.1_Missense_Mutation_p.E801K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	766					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATGTTTGCTTCTCCATGGCCA	0.522																																																	0													266	256	259					12																	31577564		2092	4235	6327	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2296G>A	12.37:g.31577564C>T	ENSP00000373734:p.Glu766Lys		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E801K	ENST00000389082.5	37	c.2401	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.629044	0.96671	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.12361	2.69;2.69;2.69	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.972;0.984	P;P	0.61397	0.715;0.888	T	0.04347	-1.0958	10	0.49607	T	0.09	-23.4147	18.3596	0.90371	0.0:1.0:0.0:0.0	.	766;801	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	766;801;801	ENSP00000373734:E766K;ENSP00000306482:E801K;ENSP00000444889:E801K	ENSP00000306482:E801K	E	-	1	0	DENND5B	31468831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.316000	0.79007	2.631000	0.89168	0.655000	0.94253	GAA	DENND5B	-	NULL		0.522	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31577564	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31577564	C	T	31577564	3	4	42	1	0	0	0	0	1	0	0	0	4447	922	32	1	1576	1	DENND5B	12	31577564	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		31577564	102274331	41	5866										
C12orf44	60673	genome.wustl.edu	37	chr12	52470838	52470838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gatgcccacacagtcggaggTggataacgtgtttgacacag	13	9	0	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr12:52470838T>C	ENST00000336854.4	+	4	999	c.521T>C	c.(520-522)gTg>gCg	p.V174A	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		174					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CAGTCGGAGGTGGATAACGTG	0.552																																																	0													148	118	128					12																	52470838		2203	4300	6503	SO:0001583	missense	60673																														ENST00000336854.4:c.521T>C	12.37:g.52470838T>C	ENSP00000338990:p.Val174Ala		Q9HAE2|Q9HBN1	Missense_Mutation	SNP	pfam_ATG101	p.V174A	ENST00000336854.4	37	c.521	CCDS8820.1	12	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215406	0.58452	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000550984	.	.	.	4.78	4.78	0.61160	.	0.070705	0.56097	D	0.000037	T	0.54870	0.1885	L	0.47716	1.5	0.54753	D	0.999989	P	0.40794	0.729	B	0.43623	0.425	T	0.55648	-0.8108	9	0.38643	T	0.18	-17.4715	13.7571	0.62943	0.0:0.0:0.0:1.0	.	174	Q9BSB4	ATGA1_HUMAN	A	174	.	ENSP00000338990:V174A	V	+	2	0	C12orf44	50757105	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.743000	0.68655	2.145000	0.66743	0.533000	0.62120	GTG	C12orf44	-	NULL		0.552	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	HGNC	protein_coding	OTTHUMT00000405063.1	T			52470838	1	no_errors	ENST00000336854	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52470838	T	C	52470838	3	2	42	1	0	0	0	0	1	0	0	0	1694	1696	59	5	527	5	C12orf44	12	52470838	Missense_Mutation	SNP	T	TCGA-C5-A7CH-01A-11D-A33O-09	20893274	52470838	81381057	42	5867										
GPC6	10082	genome.wustl.edu	37	chr13	94197569	94197569	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	catgctgcaccacagaaatgGaagacaagttaagccaacaa	8	10	0	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr13:94197569G>C	ENST00000377047.4	+	2	829	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	72					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CACAGAAATGGAAGACAAGTT	0.403																																																	0													157	144	148					13																	94197569		2203	4300	6503	SO:0001583	missense	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.214G>C	13.37:g.94197569G>C	ENSP00000366246:p.Glu72Gln		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.E72Q	ENST00000377047.4	37	c.214	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887017	0.91814	.	.	ENSG00000183098	ENST00000377047	T	0.73047	-0.71	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	D	0.86573	0.5965	M	0.87547	2.89	0.42926	D	0.994304	D;D	0.89917	0.998;1.0	D;D	0.87578	0.964;0.998	D	0.88800	0.3284	10	0.62326	D	0.03	.	18.7207	0.91692	0.0:0.0:1.0:0.0	.	72;72	B4E2M1;Q9Y625	.;GPC6_HUMAN	Q	72	ENSP00000366246:E72Q	ENSP00000366246:E72Q	E	+	1	0	GPC6	92995570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.173000	0.94815	2.481000	0.83766	0.644000	0.83932	GAA	GPC6	-	pfam_Glypican		0.403	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	G	NM_005708		94197569	1	no_errors	ENST00000377047	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94197569	G	C	94197569	3	2	42	1	0	0	0	0	1	0	0	0	6621	1175	41	1	220	1	GPC6	13	94197569	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		94197569	20972309	43	5868										
COCH	1690	genome.wustl.edu	37	chr14	31355293	31355293	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ttacttatgatcagcgcacgGagttcagtttcactgactat	8	9	3	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr14:31355293G>C	ENST00000396618.3	+	11	1308	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.E418Q|COCH_ENST00000382493.4_Missense_Mutation_p.E269Q|COCH_ENST00000460581.2_Missense_Mutation_p.E306Q|COCH_ENST00000475087.1_Missense_Mutation_p.E418Q|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	418	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E418K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGCGCACGGAGTTCAGTTT	0.438																																																	1	Substitution - Missense(1)	skin(1)											141	121	127					14																	31355293		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1252G>C	14.37:g.31355293G>C	ENSP00000379862:p.Glu418Gln		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.E418Q	ENST00000396618.3	37	c.1252	CCDS9640.1	14	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957481	0.92726	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	6.02	6.02	0.97574	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.92967	0.7762	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.92663	0.6143	10	0.72032	D	0.01	-23.0309	20.547	0.99278	0.0:0.0:1.0:0.0	.	269;418;418	E7EN67;Q96IU6;O43405	.;.;COCH_HUMAN	Q	418;418;418;306;269	ENSP00000216361:E418Q;ENSP00000379862:E418Q;ENSP00000451528:E418Q;ENSP00000451713:E306Q;ENSP00000371933:E269Q	ENSP00000216361:E418Q	E	+	1	0	COCH	30425044	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	9.827000	0.99397	2.850000	0.98022	0.650000	0.86243	GAG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.438	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	G	NM_004086		31355293	1	no_errors	ENST00000216361	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31355293	G	C	31355293	3	2	42	1	0	0	0	0	1	0	0	0	3661	1175	41	1	1290	1	COCH	14	31355293	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		31355293	75994247	44	5869										
SLC12A6	9990	genome.wustl.edu	37	chr15	34529007	34529007	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gtaagtatatgctgatatatCactgtcatgctgccatagac	8	8	2	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:34529007C>T	ENST00000354181.3	-	23	3436	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	SLC12A6_ENST00000558667.1_Missense_Mutation_p.D982N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D794N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D982N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D794N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D931N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D923N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D967N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D923N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D973N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	982					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTGATATATCACTGTCATGC	0.428																																																	0													137	120	126					15																	34529007		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2944G>A	15.37:g.34529007C>T	ENSP00000346112:p.Asp982Asn		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D973N	ENST00000354181.3	37	c.2917	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.333239	0.95758	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.83603	2.65	0.80722	D	1	P;D;P;D	0.89917	0.844;1.0;0.697;0.996	P;D;B;D	0.79784	0.482;0.993;0.285;0.963	T	0.78727	-0.2091	10	0.72032	D	0.01	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	967;982;931;794	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	931;967;973;923;923;794	ENSP00000290209:D931N;ENSP00000380819:D967N;ENSP00000380814:D923N;ENSP00000387725:D923N;ENSP00000390199:D794N	ENSP00000290209:D931N	D	-	1	0	SLC12A6	32316299	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.692000	0.91855	0.650000	0.86243	GAT	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS		0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	C	NM_005135		34529007	-1	no_errors	ENST00000558589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34529007	C	T	34529007	3	4	42	1	0	0	0	0	1	0	0	0	14417	826	29	1	524	1	SLC12A6	15	34529007	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		34529007	68002385	45	5870										
COPS2	9318	genome.wustl.edu	37	chr15	49421674	49421674	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	aaatctatgaatataagtacCttagaaataaaaggaatatg	6	3	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:49421674C>A	ENST00000388901.5	-	11	1201	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N	COPS2_ENST00000299259.6_Splice_Site_p.K383N|COPS2_ENST00000542928.1_Splice_Site_p.K312N	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	376	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATATAAGTACCTTAGAAATAA	0.264																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												0													17	18	17					15																	49421674		2089	4113	6202	SO:0001630	splice_region_variant	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1128+1G>T	15.37:g.49421674C>A			O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom	p.K383N	ENST00000388901.5	37	c.1149	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536585	0.65085	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.33865	1.39;1.39;1.39	5.05	5.05	0.67936	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.70842	2.15	0.80722	D	1	B;B;B	0.14805	0.003;0.011;0.011	B;B;B	0.18561	0.022;0.022;0.022	T	0.29366	-1.0014	9	.	.	.	-12.8262	18.7719	0.91896	0.0:1.0:0.0:0.0	.	312;384;376	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	N	383;376;312	ENSP00000299259:K383N;ENSP00000373553:K376N;ENSP00000443664:K312N	.	K	-	3	2	COPS2	47208966	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.978000	0.70501	2.498000	0.84270	0.655000	0.94253	AAG	COPS2	-	pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PCI_dom		0.264	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	HGNC	protein_coding	OTTHUMT00000417840.1	C	NM_004236	Missense_Mutation	49421674	-1	no_errors	ENST00000299259	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49421674	C	A	49421674	5	1	42	1	0	0	0	0	0	0	1	0	3738	695	24	4	215	4	COPS2	15	49421674	Splice_Site	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	14892667	49421674	53109718	46	5871										
CHRNA5	1138	genome.wustl.edu	37	chr15	78882913	78882913	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	aatcttctagaaacacattgGaagctgcgctcgattctatt	7	9	3	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:78882913G>C	ENST00000299565.5	+	5	1380	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	394					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AAACACATTGGAAGCTGCGCT	0.413																																																	0													79	75	76					15																	78882913		2196	4293	6489	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1180G>C	15.37:g.78882913G>C	ENSP00000299565:p.Glu394Gln		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E394Q	ENST00000299565.5	37	c.1180	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	G	7.992	0.753493	0.15778	.	.	ENSG00000169684	ENST00000299565	D	0.85629	-2.01	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.531769	0.21275	N	0.077260	T	0.79173	0.4401	L	0.28740	0.885	0.80722	D	1	B	0.22003	0.063	B	0.22152	0.038	T	0.73487	-0.3967	10	0.25106	T	0.35	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	394	P30532	ACHA5_HUMAN	Q	394	ENSP00000299565:E394Q	ENSP00000299565:E394Q	E	+	1	0	CHRNA5	76669968	1.000000	0.71417	0.848000	0.33437	0.107000	0.19398	4.192000	0.58378	2.382000	0.81193	0.558000	0.71614	GAA	CHRNA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.413	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	G			78882913	1	no_errors	ENST00000299565	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78882913	G	C	78882913	3	2	42	1	0	0	0	0	1	0	0	0	3391	1175	41	1	1198	1	CHRNA5	15	78882913	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	29461239	78882913	23648479	47	5872										
MLST8	64223	genome.wustl.edu	37	chr16	2256404	2256404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	cggaccgcagcatgattgctGctgcaggtatctgtgatcct	12	11	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr16:2256404G>T	ENST00000569417.1	+	3	529	c.175G>T	c.(175-177)Gct>Tct	p.A59S	MLST8_ENST00000397124.1_Missense_Mutation_p.A59S|MLST8_ENST00000382450.4_Missense_Mutation_p.A58S|MLST8_ENST00000301724.10_Missense_Mutation_p.A59S|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Missense_Mutation_p.A78S|MLST8_ENST00000565250.1_Missense_Mutation_p.A59S|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.A59S	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	59					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CATGATTGCTGCTGCAGGTAT	0.577																																																	0													117	117	117					16																	2256404		2027	4177	6204	SO:0001583	missense	64223				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.175G>T	16.37:g.2256404G>T	ENSP00000456405:p.Ala59Ser		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A59S	ENST00000569417.1	37	c.175	CCDS10462.2	16	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002654	0.54254	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.60672	1.01;1.72;1.18;0.17	5.2	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	L	0.58925	1.835	0.80722	D	1	D;B;D	0.57571	0.976;0.356;0.98	B;B;P	0.51945	0.437;0.197;0.685	T	0.54351	-0.8307	10	0.09338	T	0.73	-17.2661	11.9028	0.52692	0.0856:0.0:0.9144:0.0	.	59;78;59	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	S	59;59;59;78	ENSP00000371888:A59S;ENSP00000301724:A59S;ENSP00000380313:A59S;ENSP00000301725:A78S	ENSP00000301724:A59S	A	+	1	0	MLST8	2196405	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.847000	0.86896	2.418000	0.82041	0.511000	0.50034	GCT	MLST8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.577	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLST8	HGNC	protein_coding	OTTHUMT00000250763.2	G	NM_022372		2256404	1	no_errors	ENST00000397124	ensembl	human	known	70_37	missense	SNP	0.997	T	T	2256404	G	T	2256404	3	4	42	1	0	0	0	0	1	0	0	0	9657	1319	46	4	181	4	MLST8	16	2256404	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		2256404	88098349	48	5873										
MFSD6L	162387	genome.wustl.edu	37	chr17	8701915	8701915	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tggtcctagctccttcaacgGagggcgctaagtagacgtgc	13	11	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:8701915G>C	ENST00000329805.4	-	1	752	c.524C>G	c.(523-525)tCc>tGc	p.S175C		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	175						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCCTTCAACGGAGGGCGCTAA	0.532																																																	0													120	112	115					17																	8701915		2203	4300	6503	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.524C>G	17.37:g.8701915G>C	ENSP00000330051:p.Ser175Cys		Q6YL34|Q8NA76	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S175C	ENST00000329805.4	37	c.524	CCDS11146.1	17	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739823	0.49045	.	.	ENSG00000185156	ENST00000329805	T	0.52526	0.66	4.75	3.71	0.42584	.	0.651152	0.14340	N	0.325797	T	0.64746	0.2626	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.53401	-0.8444	10	0.45353	T	0.12	-5.9128	11.887	0.52608	0.0:0.0:0.8148:0.1851	.	175	Q8IWD5	MFS6L_HUMAN	C	175	ENSP00000330051:S175C	ENSP00000330051:S175C	S	-	2	0	MFSD6L	8642640	0.254000	0.23992	0.023000	0.16930	0.003000	0.03518	2.912000	0.48782	2.443000	0.82685	0.655000	0.94253	TCC	MFSD6L	-	NULL		0.532	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6L	HGNC	protein_coding	OTTHUMT00000442554.1	G	NM_152599		8701915	-1	no_errors	ENST00000329805	ensembl	human	known	70_37	missense	SNP	0.003	C	C	8701915	G	C	8701915	3	2	42	1	0	0	0	0	1	0	0	0	9559	1174	41	1	1240	1	MFSD6L	17	8701915	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		8701915	72493295	49	5874										
MAP2K3	5606	genome.wustl.edu	37	chr17	21215501	21215501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tacgagtcctgggggaccccGttccagcagctgaagcaggt	14	12	0	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:21215501G>A	ENST00000342679.4	+	10	1071	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAP2K3_ENST00000316920.6_Silent_p.P245P|MAP2K3_ENST00000361818.5_Silent_p.P245P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGGGGACCCCGTTCCAGCAGC	0.642																																																	0													60	58	59					17																	21215501		2203	4300	6503	SO:0001819	synonymous_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.822G>A	17.37:g.21215501G>A			B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P274	ENST00000342679.4	37	c.822	CCDS11217.1	17																																																																																			MAP2K3	-	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		0.642	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	G	NM_145109		21215501	1	no_errors	ENST00000342679	ensembl	human	known	70_37	silent	SNP	0.016	A	A	21215501	G	A	21215501	2	1	42	1	0	0	0	0	0	0	0	1	9261	1132	40	2		2	MAP2K3	17	21215501	Silent	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	12513586	21215501	59979709	50	5875										
RAB34	83871	genome.wustl.edu	37	chr17	27043038	27043038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tgaggcaagtcttccccaccGacaggtcccccaccacaatg	8	17	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:27043038G>A	ENST00000395245.3	-	3	811	c.185C>T	c.(184-186)tCg>tTg	p.S62L	RAB34_ENST00000436730.3_Missense_Mutation_p.S62L|RAB34_ENST00000453384.3_Missense_Mutation_p.S120L|RAB34_ENST00000447716.1_Missense_Mutation_p.S119L|RAB34_ENST00000301043.6_Missense_Mutation_p.S62L|RAB34_ENST00000395243.3_Missense_Mutation_p.S62L|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000395242.2_Missense_Mutation_p.S63L|RAB34_ENST00000450529.1_Missense_Mutation_p.S62L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	62					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTTCCCCACCGACAGGTCCCC	0.587																																					Pancreas(175;216 2049 29940 32498 41589)												0													78	79	79					17																	27043038		2203	4300	6503	SO:0001583	missense	83871			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.185C>T	17.37:g.27043038G>A	ENSP00000378666:p.Ser62Leu		B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S119L	ENST00000395245.3	37	c.356	CCDS11240.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.732723|2.732723	0.48939|0.48939	.|.	.|.	ENSG00000109113|ENSG00000109113	ENST00000419712|ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.|T;T;T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.92|5.92	5.92|5.92	0.95590|0.95590	.|Small GTP-binding protein domain (1);	.|0.058569	.|0.64402	.|D	.|0.000002	D|D	0.87265|0.87265	0.6134|0.6134	M|M	0.64567|0.64567	1.98|1.98	.|0.45791	.|D	.|0.998671	.|D;P;D;P;P;D	.|0.67145	.|0.996;0.936;0.996;0.948;0.948;0.96	.|P;B;P;P;P;P	.|0.60682	.|0.878;0.388;0.84;0.523;0.605;0.448	D|D	0.85559|0.85559	0.1226|0.1226	4|9	.|0.40728	.|T	.|0.16	-6.8482|-6.8482	18.9021|18.9021	0.92446|0.92446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|120;62;85;85;63;62	.|E7ES60;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.|.;.;.;.;.;RAB34_HUMAN	W|L	83|120;119;62;62;85;63;62;85;63;62;62	.|ENSP00000413156:S120L;ENSP00000410403:S119L;ENSP00000301043:S62L;ENSP00000378664:S62L;ENSP00000378663:S63L;ENSP00000378666:S62L;ENSP00000398706:S62L;ENSP00000226259:S62L	.|ENSP00000301043:S62L	R|S	-|-	1|2	2|0	RAB34|RAB34	24067165|24067165	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.955000|0.955000	0.61496|0.61496	4.237000|4.237000	0.58681|0.58681	2.812000|2.812000	0.96745|0.96745	0.563000|0.563000	0.77884|0.77884	CGG|TCG	RAB34	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.587	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RAB34	HGNC	protein_coding	OTTHUMT00000345906.1	G	NM_031934		27043038	-1	no_errors	ENST00000447716	ensembl	human	known	70_37	missense	SNP	0.999	A	A	27043038	G	A	27043038	3	1	42	1	0	0	0	0	1	0	0	0	12954	1059	37	1	690	1	RAB34	17	27043038	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	5827537	27043038	54152172	51	5876										
ONECUT2	9480	genome.wustl.edu	37	chr18	55143878	55143878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tcttcatgaacgcccggcgcCgcagcctggagaagtggcaa	13	13	2	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr18:55143878C>T	ENST00000491143.2	+	2	1470	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	480					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCCGGCGCCGCAGCCTGGA	0.587																																																	0													39	44	42					18																	55143878		2074	4235	6309	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1438C>T	18.37:g.55143878C>T	ENSP00000419185:p.Arg480Cys			Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.R480C	ENST00000491143.2	37	c.1438	CCDS42440.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422261|4.422261	0.83559|0.83559	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000481727|ENST00000491143;ENST00000262095	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86146|0.86146	0.5863|0.5863	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.88828|0.88828	0.3303|0.3303	5|9	.|0.87932	.|D	.|0	-20.3104|-20.3104	14.919|14.919	0.70822|0.70822	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|480	.|O95948	.|ONEC2_HUMAN	L|C	108|461;480	.|.	.|ENSP00000262095:R480C	P|R	+|+	2|1	0|0	ONECUT2|ONECUT2	53294876|53294876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.680000|4.680000	0.61656|0.61656	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CCG|CGC	ONECUT2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.587	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	C			55143878	1	no_errors	ENST00000262095	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55143878	C	T	55143878	3	4	42	1	0	0	0	0	1	0	0	0	10893	652	23	2	1444	2	ONECUT2	18	55143878	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		55143878	22933370	52	5877										
SMARCA4	6597	genome.wustl.edu	37	chr19	11106940	11106940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tcgaccagaagaaggacaagCgcctggcctacctcttgcag	11	13	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:11106940C>T	ENST00000429416.3	+	11	1926	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R549C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R549C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R549C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R549C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R549C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R549C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R549C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R549C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	549					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGACAAGCGCCTGGCCTA	0.562			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											172	146	155					19																	11106940		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1645C>T	19.37:g.11106940C>T	ENSP00000395654:p.Arg549Cys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R549C	ENST00000429416.3	37	c.1645	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000645	0.93227	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.994;0.99;0.998;0.998	D	0.91689	0.5364	10	0.87932	D	0	-33.0451	17.0373	0.86479	0.0:1.0:0.0:0.0	.	549;549;549;549;549;549;549	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	C	549;549;613;549;549;549;549;549	ENSP00000395654:R549C;ENSP00000350720:R549C;ENSP00000343896:R549C;ENSP00000445036:R549C;ENSP00000392837:R549C;ENSP00000397783:R549C;ENSP00000414727:R549C	ENSP00000343896:R549C	R	+	1	0	SMARCA4	10967940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.563000	0.77884	CGC	SMARCA4	-	NULL		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11106940	1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11106940	C	T	11106940	3	4	42	1	0	0	0	0	1	0	0	0	14800	768	27	2	1679	2	SMARCA4	19	11106940	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		11106940	48022043	53	5878										
PRKACA	5566	genome.wustl.edu	37	chr19	14208228	14208228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gctggtctgcgaagaagggcGggtagccagcggccatttca	16	10	2	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:14208228G>A	ENST00000308677.4	-	8	906	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PRKACA_ENST00000589994.1_Missense_Mutation_p.P229L|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GAAGAAGGGCGGGTAGCCAGC	0.597																																																	0													44	47	46					19																	14208228		2203	4300	6503	SO:0001583	missense	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.710C>T	19.37:g.14208228G>A	ENSP00000309591:p.Pro237Leu		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P237L	ENST00000308677.4	37	c.710	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969869	0.92855	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.08370	3.1	4.54	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40908	U	0.000997	T	0.18045	0.0433	L	0.39020	1.185	0.58432	D	0.999999	D;D;D	0.69078	0.995;0.972;0.997	P;P;D	0.63192	0.861;0.906;0.912	T	0.00939	-1.1507	10	0.87932	D	0	.	14.7756	0.69729	0.0:0.0:1.0:0.0	.	179;237;229	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	L	237;229;237;179	ENSP00000309591:P237L	ENSP00000309591:P237L	P	-	2	0	PRKACA	14069228	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.650000	0.98490	2.054000	0.61138	0.591000	0.81541	CCG	PRKACA	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.597	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	G	NM_002730		14208228	-1	no_errors	ENST00000308677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14208228	G	A	14208228	3	1	42	1	0	0	0	0	1	0	0	0	12524	1116	39	2	357	2	PRKACA	19	14208228	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	3101288	14208228	44920755	54	5879										
ZNF486	90649	genome.wustl.edu	37	chr19	20295210	20295210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ctgtagaattctctctggagGagtggcattgcctggacact	12	9	2	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:20295210G>A	ENST00000335117.8	+	2	133	c.76G>A	c.(76-78)Gag>Aag	p.E26K	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.E26K|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCTCTGGAGGAGTGGCATTG	0.423																																																	0													146	185	171					19																	20295210		1509	2709	4218	SO:0001583	missense	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.76G>A	19.37:g.20295210G>A	ENSP00000335042:p.Glu26Lys		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E26K	ENST00000335117.8	37	c.76	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	g	13.02	2.111598	0.37242	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.12255	2.7	0.81	0.81	0.18732	Krueppel-associated box (4);	.	.	.	.	T	0.47985	0.1475	H	0.98351	4.21	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31888	-0.9927	9	0.87932	D	0	.	4.7747	0.13173	0.0:0.0:1.0:0.0	.	26	Q96H40	ZN486_HUMAN	K	65;26	ENSP00000335042:E26K	ENSP00000335042:E26K	E	+	1	0	ZNF486	20156210	0.970000	0.33590	0.135000	0.22099	0.137000	0.21094	1.990000	0.40717	0.181000	0.19994	0.184000	0.17185	GAG	ZNF486	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	G	NM_052852		20295210	1	no_errors	ENST00000335117	ensembl	human	known	70_37	missense	SNP	0.127	A	A	20295210	G	A	20295210	3	1	42	1	0	0	0	0	1	0	0	0	17969	1175	41	1	82	1	ZNF486	19	20295210	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	6086982	20295210	38833773	55	5880										
RYR1	6261	genome.wustl.edu	37	chr19	38948806	38948806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tgacagctcaggccacccacTtgcgggtgggctgggccctc	14	15	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:38948806T>C	ENST00000359596.3	+	18	2041	c.2041T>C	c.(2041-2043)Ttg>Ctg	p.L681L	RYR1_ENST00000360985.3_Silent_p.L681L|RYR1_ENST00000355481.4_Silent_p.L681L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	681	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCACCCACTTGCGGGTGGG	0.647																																																	0													62	56	58					19																	38948806		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2041T>C	19.37:g.38948806T>C			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L681	ENST00000359596.3	37	c.2041	CCDS33011.1	19																																																																																			RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	T			38948806	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	C	C	38948806	T	C	38948806	2	2	42	1	0	0	0	0	0	0	0	1	13798	1606	56	5		5	RYR1	19	38948806	Silent	SNP	T	TCGA-C5-A7CH-01A-11D-A33O-09	18653596	38948806	20180177	56	5881										
TRPM4	54795	genome.wustl.edu	37	chr19	49693976	49693976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	atcagaagaggagcccacacGggaggagctagagtttgaca	14	8	1	4	rs78381230	byFrequency	TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:49693976G>T	ENST00000252826.5	+	16	2282	c.2156G>T	c.(2155-2157)cGg>cTg	p.R719L	TRPM4_ENST00000427978.2_Missense_Mutation_p.R719L|TRPM4_ENST00000355712.5_Missense_Mutation_p.R365L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	719					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGCCCACACGGGAGGAGCTA	0.547																																																	0													97	88	91					19																	49693976		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2156G>T	19.37:g.49693976G>T	ENSP00000252826:p.Arg719Leu		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R719L	ENST00000252826.5	37	c.2156	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	g	8.352	0.831138	0.16820	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.82893	-1.66;-1.66;-1.66	3.8	0.413	0.16401	.	0.672540	0.13499	N	0.383438	T	0.60038	0.2238	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24092	0.097;0.094;0.094;0.0	B;B;B;B	0.20767	0.014;0.031;0.019;0.001	T	0.46105	-0.9215	10	0.25751	T	0.34	-6.5519	3.4735	0.07575	0.5229:0.2429:0.2342:0.0	.	365;545;719;719	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	719;719;365	ENSP00000252826:R719L;ENSP00000407492:R719L;ENSP00000347944:R365L	ENSP00000252826:R719L	R	+	2	0	TRPM4	54385788	0.007000	0.16637	0.205000	0.23548	0.008000	0.06430	-0.337000	0.07852	0.018000	0.15052	-0.529000	0.04317	CGG	TRPM4	-	NULL		0.547	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	G	NM_017636		49693976	1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	0.225	T	T	49693976	G	T	49693976	3	4	42	1	0	0	0	0	1	0	0	0	16619	1116	39	2	2218	2	TRPM4	19	49693976	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	10745170	49693976	9435007	57	5882										
SIGLEC10	89790	genome.wustl.edu	37	chr19	51918168	51918168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ggagctgagccctccatggaGgctcagggagctgttggccc	16	12	1	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:51918168G>T	ENST00000339313.5	-	8	1641	c.1525C>A	c.(1525-1527)Ctc>Atc	p.L509I	SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L451I|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L509I|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	509					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTCCATGGAGGCTCAGGGAG	0.682																																																	0													33	39	37					19																	51918168		2200	4296	6496	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1525C>A	19.37:g.51918168G>T	ENSP00000345243:p.Leu509Ile		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L509I	ENST00000339313.5	37	c.1525	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	16.66	3.183633	0.57800	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.86230	-2.09;-2.09;-2.09	4.83	3.8	0.43715	.	0.140267	0.33005	N	0.005381	D	0.93644	0.7970	M	0.91717	3.235	0.29020	N	0.88634	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88511	0.3089	10	0.54805	T	0.06	.	9.0889	0.36598	0.1027:0.0:0.8973:0.0	.	451;509	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	I	509;451;509	ENSP00000348646:L509I;ENSP00000389132:L451I;ENSP00000345243:L509I	ENSP00000345243:L509I	L	-	1	0	SIGLEC10	56609980	0.996000	0.38824	0.993000	0.49108	0.548000	0.35241	0.534000	0.23098	1.041000	0.40125	0.561000	0.74099	CTC	SIGLEC10	-	NULL		0.682	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	G	NM_033130		51918168	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.998	T	T	51918168	G	T	51918168	3	4	42	1	0	0	0	0	1	0	0	0	14336	1000	35	4	584	4	SIGLEC10	19	51918168	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	2224192	51918168	7210815	58	5883										
PCIF1	63935	genome.wustl.edu	37	chr20	44571747	44571747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	gtcctgcaggcattgagcctCcacgggagtctttcaaccgc	11	14	2	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr20:44571747C>T	ENST00000372409.3	+	8	1049	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	229					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CATTGAGCCTCCACGGGAGTC	0.552																																																	0													47	40	43					20																	44571747		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.685C>T	20.37:g.44571747C>T	ENSP00000361486:p.Pro229Ser		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.P229S	ENST00000372409.3	37	c.685	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345020	0.82022	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82204	-0.0573	9	0.56958	D	0.05	-14.4616	17.4916	0.87705	0.0:1.0:0.0:0.0	.	229	Q9H4Z3	PCIF1_HUMAN	S	229	.	ENSP00000361486:P229S	P	+	1	0	PCIF1	44005154	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	7.544000	0.82117	2.606000	0.88127	0.655000	0.94253	CCA	PCIF1	-	NULL		0.552	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	C	NM_022104		44571747	1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44571747	C	T	44571747	3	4	42	1	0	0	0	0	1	0	0	0	11604	855	30	1	707	1	PCIF1	20	44571747	Missense_Mutation	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09		44571747	18453773	59	5884										
PCNT	5116	genome.wustl.edu	37	chr21	47851509	47851509	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	tctgcgtggcactgaaacacGagcagacggccaaggacaac	12	12	1	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr21:47851509G>T	ENST00000359568.5	+	38	8238	c.8131G>T	c.(8131-8133)Gag>Tag	p.E2711*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2711					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTGAAACACGAGCAGACGGC	0.597																																																	0													67	63	64					21																	47851509		2203	4300	6503	SO:0001587	stop_gained	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8131G>T	21.37:g.47851509G>T	ENSP00000352572:p.Glu2711*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.E2711*	ENST00000359568.5	37	c.8131	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	49	15.748072	0.99844	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.32	5.32	0.75619	.	0.000000	0.34411	N	0.003981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.371	0.90407	0.0:0.0:1.0:0.0	.	.	.	.	X	2711	.	ENSP00000352572:E2711X	E	+	1	0	PCNT	46675937	1.000000	0.71417	0.932000	0.37286	0.353000	0.29299	8.861000	0.92277	2.664000	0.90586	0.655000	0.94253	GAG	PCNT	-	NULL		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47851509	1	no_errors	ENST00000359568	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47851509	G	T	47851509	4	4	42	1	0	0	0	0	0	1	0	0	11614	1059	37	3	8281	3	PCNT	21	47851509	Nonsense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		47851509	278386	60	5885										
MYH9	4627	genome.wustl.edu	37	chr22	36697588	36697588	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	actgacacccacctgagactGcagcgtctccatctccgtga	8	16	2	3			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr22:36697588G>A	ENST00000216181.5	-	21	2853	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	875					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTGAGACTGCAGCGTCTCC	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													152	102	119					22																	36697588		2202	4300	6502	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2623C>T	22.37:g.36697588G>A	ENSP00000216181:p.Gln875*	864	A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q875*	ENST00000216181.5	37	c.2623	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	42	9.369706	0.99150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	.	.	.	6.08	5.07	0.68467	.	0.180007	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.2552	0.73579	0.0668:0.0:0.9331:0.0	.	.	.	.	X	739;875	.	ENSP00000216181:Q875X	Q	-	1	0	MYH9	35027534	1.000000	0.71417	0.391000	0.26233	0.347000	0.29111	9.697000	0.98697	1.586000	0.49944	0.655000	0.94253	CAG	MYH9	-	NULL		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36697588	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	36697588	G	A	36697588	4	1	42	1	0	0	0	0	0	1	0	0	10065	1328	46	4	3343	4	MYH9	22	36697588	Nonsense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09		36697588	14606978	61	5886										
ITIH5L	347365	genome.wustl.edu	37	chrX	54824609	54824609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	caagaagaatggtcagcaaaAagctgacacagatgaggtac	11	7	1	5			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:54824609A>T	ENST00000218436.6	-	1	64	c.35T>A	c.(34-36)tTt>tAt	p.F12Y		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	12					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTCAGCAAAAAGCTGACACA	0.517																																																	0													70	55	60					X																	54824609		2202	4297	6499	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.35T>A	X.37:g.54824609A>T	ENSP00000218436:p.Phe12Tyr		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F12Y	ENST00000218436.6	37	c.35	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	A	7.735	0.700073	0.15106	.	.	ENSG00000102313	ENST00000218436	T	0.02280	4.36	5.21	4.01	0.46588	.	2.126410	0.04598	U	0.397913	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	P	0.48089	0.905	B	0.43413	0.419	T	0.47142	-0.9140	10	0.30078	T	0.28	.	6.6052	0.22721	0.8802:0.0:0.1198:0.0	.	12	Q6UXX5	ITH5L_HUMAN	Y	12	ENSP00000218436:F12Y	ENSP00000218436:F12Y	F	-	2	0	ITIH5L	54841334	0.893000	0.30496	0.003000	0.11579	0.192000	0.23643	1.638000	0.37165	0.703000	0.31848	-0.438000	0.05819	TTT	ITIH6	-	NULL		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	A	NM_198510		54824609	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.011	T	T	54824609	A	T	54824609	3	4	42	1	0	0	0	0	1	0	0	0	7928	14	1	5	3958	5	ITIH5L	23	54824609	Missense_Mutation	SNP	A	TCGA-C5-A7CH-01A-11D-A33O-09		54824609	100445951	62	5887										
ALAS2	212	genome.wustl.edu	37	chrX	55047616	55047616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	ggatatgcatcagcccagcgGttcacagtcttgaacacacg	10	12	3	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:55047616G>T	ENST00000330807.5	-	5	644	c.507C>A	c.(505-507)aaC>aaA	p.N169K	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000335854.4_Missense_Mutation_p.N132K|ALAS2_ENST00000396198.3_Missense_Mutation_p.N156K	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	169					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CAGCCCAGCGGTTCACAGTCT	0.478																																																	0													173	123	140					X																	55047616		2203	4300	6503	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.507C>A	X.37:g.55047616G>T	ENSP00000332369:p.Asn169Lys		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.N169K	ENST00000330807.5	37	c.507	CCDS14366.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499991|3.499991	0.64298|0.64298	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854|ENST00000455688	D;D;D|.	0.94758|.	-3.51;-3.51;-3.51|.	4.92|4.92	-0.468|-0.468	0.12146|0.12146	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73621|0.73621	0.3610|0.3610	M|M	0.87758|0.87758	2.905|2.905	0.53005|0.53005	D|D	0.999969|0.999969	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	D;D;D|.	0.71414|.	0.949;0.964;0.973|.	T|T	0.72714|0.72714	-0.4210|-0.4210	10|5	0.54805|.	T|.	0.06|.	-21.016|-21.016	9.5583|9.5583	0.39353|0.39353	0.5419:0.0:0.4581:0.0|0.5419:0.0:0.4581:0.0	.|.	132;156;169|.	A8K6C4;Q5JZF5;P22557|.	.;.;HEM0_HUMAN|.	K|N	169;156;132|121	ENSP00000332369:N169K;ENSP00000379501:N156K;ENSP00000337131:N132K|.	ENSP00000332369:N169K|.	N|T	-|-	3|2	2|0	ALAS2|ALAS2	55064341|55064341	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	2.039000|2.039000	0.41193|0.41193	-0.206000|-0.206000	0.10203|0.10203	0.529000|0.529000	0.55759|0.55759	AAC|ACC	ALAS2	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth		0.478	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	G	NM_000032		55047616	-1	no_errors	ENST00000330807	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55047616	G	T	55047616	3	4	42	1	0	0	0	0	1	0	0	0	485	1252	44	4	1284	4	ALAS2	23	55047616	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	223007	55047616	100222944	63	5888										
ZMYM3	9203	genome.wustl.edu	37	chrX	70468078	70468078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	atgcaagagtttctcctgccGacagtgctcacactgggaca	10	12	2	1			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:70468078G>A	ENST00000353904.2	-	11	2096	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	ZMYM3_ENST00000373988.1_Missense_Mutation_p.R639W|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R637W|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R639W|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R637W|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	637					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTCTCCTGCCGACAGTGCTCA	0.547																																																	0													67	50	56					X																	70468078		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1909C>T	X.37:g.70468078G>A	ENSP00000343909:p.Arg637Trp		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R639W	ENST00000353904.2	37	c.1915	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	14.44	2.537049	0.45176	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.47528	1.44;0.84;1.44;1.45;1.44	4.59	2.66	0.31614	TRASH (1);Zinc finger, MYM-type (1);	0.110366	0.40144	N	0.001178	T	0.46946	0.1419	N	0.14661	0.345	0.29143	N	0.878896	D;D	0.71674	0.997;0.998	P;D	0.65140	0.888;0.932	T	0.47674	-0.9099	10	0.87932	D	0	-5.2885	11.6372	0.51211	0.0:0.0:0.4109:0.5891	.	637;637	Q14202-2;Q14202	.;ZMYM3_HUMAN	W	637;637;637;639;639	ENSP00000322845:R637W;ENSP00000363110:R637W;ENSP00000343909:R637W;ENSP00000363096:R639W;ENSP00000363100:R639W	ENSP00000322845:R637W	R	-	1	2	ZMYM3	70384803	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.324000	0.43831	0.911000	0.36747	0.429000	0.28392	CGG	ZMYM3	-	pfam_Znf_MYM,smart_TRASH		0.547	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70468078	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70468078	G	A	70468078	3	1	42	1	0	0	0	0	1	0	0	0	17731	1057	37	1	2263	1	ZMYM3	23	70468078	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	15420462	70468078	84802482	64	5889										
OGT	8473	genome.wustl.edu	37	chrX	70777114	70777114	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	aacttaagcctgattttcctGatgcttattgtaacttggct	7	8	0	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:70777114G>C	ENST00000373719.3	+	11	1607	c.1390G>C	c.(1390-1392)Gat>Cat	p.D464H	OGT_ENST00000373701.3_Missense_Mutation_p.D454H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	464					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGATTTTCCTGATGCTTATTG	0.388																																																	0													54	49	51					X																	70777114		2202	4300	6502	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1390G>C	X.37:g.70777114G>C	ENSP00000362824:p.Asp464His		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D464H	ENST00000373719.3	37	c.1390	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456925	0.84317	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.18174	2.23;2.23	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.99	T	0.62760	-0.6786	10	0.54805	T	0.06	-33.0708	18.5742	0.91149	0.0:0.0:1.0:0.0	.	338;454;464	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	H	464;454	ENSP00000362824:D464H;ENSP00000362805:D454H	ENSP00000362805:D454H	D	+	1	0	OGT	70693839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.791000	0.99081	2.329000	0.79093	0.594000	0.82650	GAT	OGT	-	pfscan_TPR-contain_dom		0.388	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	G	NM_003605, NM_181672		70777114	1	no_errors	ENST00000373719	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70777114	G	C	70777114	3	2	42	1	0	0	0	0	1	0	0	0	10871	1290	45	1	1432	1	OGT	23	70777114	Missense_Mutation	SNP	G	TCGA-C5-A7CH-01A-11D-A33O-09	309036	70777114	84493446	65	5890										
DCX	1641	genome.wustl.edu	37	chrX	110574146	110574146	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.212121212121212	14	0.00255793506320523	2.34871794871795	3.2027972027972	2.04565756823821	0.256800376901332	0.51558231790936	8	actcaccgtcttggtcgttaCctgagtcagctggagacttg	11	11	3	2			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:110574146C>T	ENST00000338081.3	-	5	1346		c.e5+1		DCX_ENST00000356915.2_Missense_Mutation_p.G311D|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.G311D|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000488120.1_Splice_Site	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin						axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.G311V(1)|p.?(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTGGTCGTTACCTGAGTCAGC	0.522																																																	2	Substitution - Missense(1)|Unknown(1)	lung(2)											319	254	276					X																	110574146		2203	4300	6503	SO:0001630	splice_region_variant	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1174+1G>A	X.37:g.110574146C>T			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Splice_Site	SNP	-	e5+1	ENST00000338081.3	37	c.1174+1	CCDS14556.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.8|25.8|25.8	4.678967|4.678967|4.678967	0.88542|0.88542|0.88542	.|.|.	.|.|.	ENSG00000077279|ENSG00000077279|ENSG00000077279	ENST00000371993;ENST00000338081;ENST00000488120|ENST00000356915;ENST00000356220|ENST00000358070	.|T;T|.	.|0.25250|.	.|1.81;1.81|.	5.41|5.41|5.41	5.41|5.41|5.41	0.78517|0.78517|0.78517	.|.|.	.|0.328242|.	.|0.27664|.	.|N|.	.|0.018367|.	.|T|T	.|0.50616|0.50616	.|0.1626|0.1626	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.13145|.	.|0.007|.	.|B|.	.|0.09377|.	.|0.004|.	.|T|T	.|0.47586|0.47586	.|-0.9106|-0.9106	.|10|5	.|0.16420|.	.|T|.	.|0.52|.	.|.|.	18.2138|18.2138|18.2138	0.89879|0.89879|0.89879	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|380|.	.|B4DM53|.	.|.|.	.|D|I	-1|311|384	.|ENSP00000349385:G311D;ENSP00000348553:G311D|.	.|ENSP00000348553:G311D|.	.|G|V	-|-|-	.|2|1	.|0|0	DCX|DCX|DCX	110460802|110460802|110460802	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.610000|6.610000|6.610000	0.74178|0.74178|0.74178	2.238000|2.238000|2.238000	0.73509|0.73509|0.73509	0.594000|0.594000|0.594000	0.82650|0.82650|0.82650	.|GGT|GTA	DCX	-	-		0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	C	NM_178153	Intron	110574146	-1	no_errors	ENST00000338081	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	110574146	C	T	110574146	5	4	42	1	0	0	0	0	0	0	1	0	4323	521	18	4	177	4	DCX	23	110574146	Splice_Site	SNP	C	TCGA-C5-A7CH-01A-11D-A33O-09	39797032	110574146	44696414	66	5891										
CSMD2	114784	genome.wustl.edu	37	chr1	34099119	34099119	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	agggccgtgtgaaagaaggcGaactggccaaacaccactgt	13	10	0	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:34099119G>A	ENST00000373380.1	-	11	1942	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.F1701F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1661	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAAGAAGGCGAACTGGCCAA	0.647											OREG0013348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40	26	31					1																	34099119		2143	4210	6353	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1722C>T	1.37:g.34099119G>A		845	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F1701	ENST00000373380.1	37	c.5103		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.647	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	G	NM_052896		34099119	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	0.723	A	A	34099119	G	A	34099119	2	1	43	1	0	0	0	0	0	0	0	1	3950	1049	37	1		1	CSMD2	1	34099119	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		34099119	215151502	1	5892										
TFAP2E	339488	genome.wustl.edu	37	chr1	36056287	36056287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tacgtctgtgagacggagttCccagccaaggcagctgccga	13	12	1	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:36056287C>A	ENST00000373235.3	+	6	1165	c.957C>A	c.(955-957)ttC>ttA	p.F319L		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGACGGAGTTCCCAGCCAAGG	0.657																																																	0													60	47	52					1																	36056287		2203	4300	6503	SO:0001583	missense	339488			BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.957C>A	1.37:g.36056287C>A	ENSP00000362332:p.Phe319Leu			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.F319L	ENST00000373235.3	37	c.957	CCDS393.2	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410406	0.83340	.	.	ENSG00000116819	ENST00000373235	D	0.97279	-4.32	5.65	2.71	0.32032	Transcription factor AP-2, C-terminal (1);	0.052394	0.85682	D	0.000000	D	0.97760	0.9265	M	0.89534	3.04	0.80722	D	1	D	0.56968	0.978	P	0.54815	0.761	D	0.97677	1.0170	10	0.87932	D	0	-13.8697	9.9668	0.41730	0.0:0.7315:0.0:0.2685	.	319	Q6VUC0	AP2E_HUMAN	L	319	ENSP00000362332:F319L	ENSP00000362332:F319L	F	+	3	2	TFAP2E	35828874	0.996000	0.38824	1.000000	0.80357	0.949000	0.60115	0.456000	0.21859	1.381000	0.46364	0.555000	0.69702	TTC	TFAP2E	-	pfam_TF_AP2_C		0.657	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2E	HGNC	protein_coding	OTTHUMT00000012732.1	C	NM_178548		36056287	1	no_errors	ENST00000373235	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36056287	C	A	36056287	3	1	43	1	0	0	0	0	1	0	0	0	15821	854	30	3	979	3	TFAP2E	1	36056287	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	1957168	36056287	213194334	2	5893										
RPAP2	79871	genome.wustl.edu	37	chr1	92789846	92789846	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	agaatttgaaaaaagaaactGaaaagttaaatctgaggatc	8	3	1	5			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:92789846G>A	ENST00000610020.1	+	8	1478	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	457					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAGAAACTGAAAAGTTAAA	0.413																																																	0													57	62	60					1																	92789846		2199	4299	6498	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1369G>A	1.37:g.92789846G>A	ENSP00000476948:p.Glu457Lys		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.E457K	ENST00000610020.1	37	c.1369	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516175	0.64634	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.59	5.59	0.84812	.	0.179595	0.52532	D	0.000071	T	0.50240	0.1604	L	0.43923	1.385	0.36922	D	0.891460	D	0.76494	0.999	P	0.60609	0.877	T	0.49597	-0.8923	8	0.34782	T	0.22	-22.9854	13.1795	0.59647	0.0:0.0:0.7212:0.2788	.	457	Q8IXW5	RPAP2_HUMAN	K	457	.	ENSP00000359368:E457K	E	+	1	0	RPAP2	92562434	1.000000	0.71417	0.984000	0.44739	0.941000	0.58515	3.586000	0.53950	2.644000	0.89710	0.586000	0.80456	GAA	RPAP2	-	NULL		0.413	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	G	NM_024813		92789846	1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	0.525	A	A	92789846	G	A	92789846	3	1	43	1	0	0	0	0	1	0	0	0	13572	1291	45	1	1399	1	RPAP2	1	92789846	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	56733559	92789846	156460775	3	5894										
FLG	2312	genome.wustl.edu	37	chr1	152280708	152280708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	accagtgagtgtctagagctGtcggcccaagaggaagcttc	13	10	1	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:152280708G>T	ENST00000368799.1	-	3	6689	c.6654C>A	c.(6652-6654)gaC>gaA	p.D2218E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2218	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCGGCCCAAG	0.552									Ichthyosis																																								0													315	292	300					1																	152280708		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6654C>A	1.37:g.152280708G>T	ENSP00000357789:p.Asp2218Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D2218E	ENST00000368799.1	37	c.6654	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	3.409	-0.120656	0.06838	.	.	ENSG00000143631	ENST00000368799	T	0.04234	3.67	1.04	-1.73	0.08081	.	.	.	.	.	T	0.00875	0.0029	L	0.61387	1.9	0.09310	N	1	P	0.36587	0.559	B	0.28784	0.094	T	0.48445	-0.9035	9	0.02654	T	1	.	2.7815	0.05362	0.2242:0.2952:0.4806:0.0	.	2218	P20930	FILA_HUMAN	E	2218	ENSP00000357789:D2218E	ENSP00000357789:D2218E	D	-	3	2	FLG	150547332	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	1.801000	0.38843	-0.479000	0.06813	0.478000	0.44815	GAC	FLG	-	pfam_Filaggrin		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152280708	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152280708	G	T	152280708	3	4	43	1	0	0	0	0	1	0	0	0	5940	1368	48	4	5535	4	FLG	1	152280708	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	59490862	152280708	96969913	4	5895										
CACNA1S	779	genome.wustl.edu	37	chr1	201031086	201031086	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	actcactgaggccatccctcGaaggtggagaccgtgaagag	13	11	1	4	rs139235699	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:201031086G>A	ENST00000362061.3	-	24	3265	c.3039C>T	c.(3037-3039)ttC>ttT	p.F1013F	CACNA1S_ENST00000367338.3_Silent_p.F1013F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1013	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCATCCCTCGAAGGTGGAGA	0.607																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	117	87	97		3039	1	1	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	CACNA1S	NM_000069.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1013/1874	201031086	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3039C>T	1.37:g.201031086G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.F1013	ENST00000362061.3	37	c.3039	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201031086	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	silent	SNP	0.997	A	A	201031086	G	A	201031086	2	1	43	1	0	0	0	0	0	0	0	1	2552	1049	37	1		1	CACNA1S	1	201031086	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	48750378	201031086	48219535	5	5896										
FAM98A	25940	genome.wustl.edu	37	chr2	33813412	33813412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	aaggtcttacttttttttcaAtcccgctgaagaattggaac	7	8	2	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr2:33813412A>G	ENST00000238823.8	-	4	652	c.512T>C	c.(511-513)aTt>aCt	p.I171T	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000403368.1_Missense_Mutation_p.I171T|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	171							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TTTTTTTTCAATCCCGCTGAA	0.353																																																	0													161	163	162					2																	33813412		2203	4300	6503	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.512T>C	2.37:g.33813412A>G	ENSP00000238823:p.Ile171Thr		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.I171T	ENST00000238823.8	37	c.512	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709430	0.68730	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.58797	0.31;0.31	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	L	0.58101	1.795	0.80722	D	1	D;B	0.61080	0.989;0.163	D;B	0.75020	0.985;0.238	T	0.74512	-0.3641	10	0.59425	D	0.04	-7.4987	15.8083	0.78534	1.0:0.0:0.0:0.0	.	171;48	Q8NCA5-2;B3KTW4	.;.	T	171	ENSP00000238823:I171T;ENSP00000384711:I171T	ENSP00000238823:I171T	I	-	2	0	FAM98A	33666916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.248000	0.95456	2.188000	0.69820	0.460000	0.39030	ATT	FAM98A	-	pfam_Uncharacterised_FAM98		0.353	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	A	NM_015475		33813412	-1	no_errors	ENST00000238823	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33813412	A	G	33813412	3	3	43	1	0	0	0	0	1	0	0	0	5674	101	4	5	1064	5	FAM98A	2	33813412	Missense_Mutation	SNP	A	TCGA-C5-A7CJ-01A-11D-A32I-09		33813412	209385961	6	5897										
TTN	7273	genome.wustl.edu	37	chr2	179482768	179482768	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	agtgagacaccaaatcgattCacatcagtgatggttacatt	8	8	2	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr2:179482768C>T	ENST00000591111.1	-	203	42611	c.42387G>A	c.(42385-42387)gtG>gtA	p.V14129V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.V6830V|TTN_ENST00000460472.2_Silent_p.V6705V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V15770V|TTN_ENST00000342992.6_Silent_p.V13202V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.V6897V|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14129	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATCGATTCACATCAGTGA	0.423																																																	0													77	75	75					2																	179482768		1953	4147	6100	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42387G>A	2.37:g.179482768C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13202	ENST00000591111.1	37	c.39606		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179482768	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179482768	C	T	179482768	2	4	43	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179482768	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	145669356	179482768	63716605	7	5898										
TRANK1	9881	genome.wustl.edu	37	chr3	36874141	36874141	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tcattttcaaacagaaagtgGatgtactccttcaaagcaaa	6	8	3	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:36874141G>T	ENST00000429976.2	-	21	7048	c.6801C>A	c.(6799-6801)atC>atA	p.I2267I	TRANK1_ENST00000301807.6_Silent_p.I1717I|TRANK1_ENST00000428977.2_Silent_p.I1717I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2267							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACAGAAAGTGGATGTACTCCT	0.468																																																	0													81	79	80					3																	36874141		1871	4095	5966	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6801C>A	3.37:g.36874141G>T			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.I2267	ENST00000429976.2	37	c.6801	CCDS46789.2	3																																																																																			TRANK1	-	NULL		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36874141	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	silent	SNP	0.685	T	T	36874141	G	T	36874141	2	4	43	1	0	0	0	0	0	0	0	1	16485	1164	41	3		3	TRANK1	3	36874141	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		36874141	161148289	8	5899										
P4HTM	54681	genome.wustl.edu	37	chr3	49044174	49044174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cgggggctgcctggtcacgcGcggcaccaagtggattgcca	16	13	1	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49044174G>A	ENST00000383729.4	+	9	1714	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.R509H|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	448	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTGGTCACGCGCGGCACCAAG	0.632																																																	0													51	49	50					3																	49044174		2203	4300	6503	SO:0001583	missense	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1343G>A	3.37:g.49044174G>A	ENSP00000373235:p.Arg448His		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R509H	ENST00000383729.4	37	c.1526	CCDS43089.1	3	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262443	0.59431	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59906	0.23	5.47	3.42	0.39159	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.196575	0.47852	D	0.000217	T	0.47248	0.1435	L	0.53249	1.67	0.09310	N	1	P;B	0.46578	0.88;0.238	B;B	0.42188	0.379;0.047	T	0.49283	-0.8956	10	0.52906	T	0.07	-11.8146	3.0841	0.06272	0.2898:0.231:0.4792:0.0	.	509;448	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	H	448;509	ENSP00000373235:R448H	ENSP00000341422:R509H	R	+	2	0	P4HTM	49019178	0.340000	0.24792	0.266000	0.24541	0.994000	0.84299	1.358000	0.34102	1.322000	0.45245	0.650000	0.86243	CGC	P4HTM	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.632	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	G	NM_177938		49044174	1	no_errors	ENST00000343546	ensembl	human	known	70_37	missense	SNP	0.092	A	A	49044174	G	A	49044174	3	1	43	1	0	0	0	0	1	0	0	0	11384	1087	38	2	1560	2	P4HTM	3	49044174	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	12170033	49044174	148978256	9	5900			1	26		7	6	7888	N	G	3.893255e-11
P4HTM	54681	genome.wustl.edu	37	chr3	49044293	49044293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggggcaccgactcacagcccGagtgggctctggaccgggcc	16	15	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49044293G>A	ENST00000383729.4	+	9	1833	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.E549K|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	488						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTCACAGCCCGAGTGGGCTCT	0.657																																																	0													24	26	25					3																	49044293		2202	4298	6500	SO:0001583	missense	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1462G>A	3.37:g.49044293G>A	ENSP00000373235:p.Glu488Lys		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E549K	ENST00000383729.4	37	c.1645	CCDS43089.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.625906	0.96671	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.81163	-1.46	5.51	5.51	0.81932	.	0.126503	0.51477	D	0.000083	T	0.72827	0.3509	N	0.19112	0.55	0.38299	D	0.942931	P;D	0.56521	0.798;0.976	B;B	0.43680	0.299;0.427	T	0.78183	-0.2303	10	0.49607	T	0.09	-31.3429	18.4055	0.90535	0.0:0.0:1.0:0.0	.	549;488	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	K	488;549	ENSP00000373235:E488K	ENSP00000341422:E549K	E	+	1	0	P4HTM	49019297	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	4.957000	0.63652	2.589000	0.87451	0.655000	0.94253	GAG	P4HTM	-	NULL		0.657	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	G	NM_177938		49044293	1	no_errors	ENST00000343546	ensembl	human	known	70_37	missense	SNP	0.998	A	A	49044293	G	A	49044293	3	1	43	1	0	0	0	0	1	0	0	0	11384	1059	37	1	1679	1	P4HTM	3	49044293	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	119	49044293	148978137	10	5901			1	26		7	6	7888	N	G	3.893255e-11
WDR6	11180	genome.wustl.edu	37	chr3	49049889	49049889	+	Missense_Mutation	SNP	G	G	A													0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tccgggccatagctgcccatGagaggcaggcctgggtgatc							TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49049889G>A	ENST00000608424.1	+	2	961	c.922G>A	c.(922-924)Gag>Aag	p.E308K	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.E338K|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.E257K			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	308					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGCTGCCCATGAGAGGCAGGC	0.622																																																	0													59	63	62					3																	49049889		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.922G>A	3.37:g.49049889G>A	ENSP00000477389:p.Glu308Lys		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E338K	ENST00000608424.1	37	c.1012		3	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596158	0.66332	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.90069	-0.15;-2.61	5.52	3.62	0.41486	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.178035	0.49305	D	0.000153	D	0.82976	0.5154	L	0.39085	1.19	0.32341	N	0.559811	P;P;P	0.47034	0.889;0.817;0.606	B;B;B	0.43658	0.426;0.284;0.372	T	0.82608	-0.0373	10	0.23302	T	0.38	-30.8656	11.0478	0.47870	0.0765:0.1325:0.7911:0.0	.	179;308;257	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	K	338;257	ENSP00000378857:E338K;ENSP00000413432:E257K	ENSP00000378857:E338K	E	+	1	0	WDR6	49024893	0.983000	0.35010	0.956000	0.39512	0.990000	0.78478	4.002000	0.57053	2.594000	0.87642	0.561000	0.74099	GAG	WDR6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049889	1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.899	A	A	49049889	G	A	49049889	3	1	43	1	0	0	0	0	1	0	0	0	17341	1291	45	1	1018	1	WDR6	3	49049889	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	5596	49049889	148972541	11	5902	29	2	1	26		7	6	7888	N	G	3.893255e-11
WDR6	11180	genome.wustl.edu	37	chr3	49049891	49049891	+	Silent	SNP	G	G	A													0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cgggccatagctgcccatgaGaggcaggcctgggtgatcac							TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49049891G>A	ENST00000608424.1	+	2	963	c.924G>A	c.(922-924)gaG>gaA	p.E308E	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Silent_p.E338E|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.E257E			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	308					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTGCCCATGAGAGGCAGGCCT	0.622																																																	0													60	64	62					3																	49049891		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.924G>A	3.37:g.49049891G>A			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E338	ENST00000608424.1	37	c.1014		3																																																																																			WDR6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049891	1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.993	A	A	49049891	G	A	49049891	2	1	43	1	0	0	0	0	0	0	0	1	17341	933	33	1		1	WDR6	3	49049891	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	2	49049891	148972539	12	5903	29	2	1	26		7	6	7888	N	G	3.893255e-11
WDR6	11180	genome.wustl.edu	37	chr3	49049972	49049972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gggcgtgggtaccggggattGggggtctcggctctctgctt	19	9	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49049972G>A	ENST00000608424.1	+	2	1044	c.1005G>A	c.(1003-1005)ttG>ttA	p.L335L	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Silent_p.L365L|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.L284L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	335					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCGGGGATTGGGGGTCTCGG	0.612																																																	0													59	64	62					3																	49049972		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1005G>A	3.37:g.49049972G>A			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L365	ENST00000608424.1	37	c.1095		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.612	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049972	1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.000	A	A	49049972	G	A	49049972	2	1	43	1	0	0	0	0	0	0	0	1	17341	1339	47	4		4	WDR6	3	49049972	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	81	49049972	148972458	13	5904			1	26		7	6	7888	N	G	3.893255e-11
WDR6	11180	genome.wustl.edu	37	chr3	49050409	49050409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggccatctttgtcaaggaacGttgtcggtacctgctgcccc	11	13	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49050409G>A	ENST00000608424.1	+	2	1481	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.R511H|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.R430H			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	481					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTCAAGGAACGTTGTCGGTAC	0.607																																																	0													69	62	64					3																	49050409		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1442G>A	3.37:g.49050409G>A	ENSP00000477389:p.Arg481His		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R511H	ENST00000608424.1	37	c.1532		3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524061	0.64747	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.66815	-0.23;0.19	5.49	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.399955	0.25677	N	0.029039	T	0.64897	0.2640	L	0.36672	1.1	0.09310	N	0.999996	D;P	0.76494	0.999;0.83	P;B	0.59221	0.854;0.107	T	0.57277	-0.7839	10	0.40728	T	0.16	-13.1173	5.1541	0.15025	0.2123:0.0:0.6225:0.1652	.	481;430	Q9NNW5;E9PDU5	WDR6_HUMAN;.	H	511;430	ENSP00000378857:R511H;ENSP00000413432:R430H	ENSP00000378857:R511H	R	+	2	0	WDR6	49025413	0.962000	0.33011	0.990000	0.47175	0.961000	0.63080	2.711000	0.47177	2.594000	0.87642	0.561000	0.74099	CGT	WDR6	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat		0.607	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49050409	1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.215	A	A	49050409	G	A	49050409	3	1	43	1	0	0	0	0	1	0	0	0	17341	1145	40	2	1538	2	WDR6	3	49050409	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	437	49050409	148972021	14	5905			1	26		7	6	7888	N	G	3.893255e-11
WDR6	11180	genome.wustl.edu	37	chr3	49052061	49052061	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tcctgtgcagcgcagctactGatggcagcctggctttctgg	13	12	1	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49052061G>A	ENST00000608424.1	+	5	2851	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	WDR6_ENST00000395474.3_Missense_Mutation_p.D968N|WDR6_ENST00000415265.2_Missense_Mutation_p.D386N|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000448293.1_Missense_Mutation_p.D887N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	938					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGCAGCTACTGATGGCAGCCT	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													110	102	104					3																	49052061		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2812G>A	3.37:g.49052061G>A	ENSP00000477389:p.Asp938Asn	959	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D968N	ENST00000608424.1	37	c.2902		3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964607	0.92791	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.78816	2.12;-1.21;-1.21	4.47	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.72894	2.215	0.58432	D	0.999992	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.961;0.998;0.999	D	0.86306	0.1683	10	0.39692	T	0.17	-19.7392	17.0064	0.86394	0.0:0.0:1.0:0.0	.	386;938;887	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	968;386;887	ENSP00000378857:D968N;ENSP00000412195:D386N;ENSP00000413432:D887N	ENSP00000378857:D968N	D	+	1	0	WDR6	49027065	1.000000	0.71417	0.430000	0.26722	0.905000	0.53344	8.498000	0.90492	2.435000	0.82474	0.561000	0.74099	GAT	WDR6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49052061	1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.999	A	A	49052061	G	A	49052061	3	1	43	1	0	0	0	0	1	0	0	0	17341	1290	45	1	2920	1	WDR6	3	49052061	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	1652	49052061	148970369	15	5906			1	26		7	6	7888	N	G	3.893255e-11
COL8A1	1295	genome.wustl.edu	37	chr3	99513685	99513685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	aaggacctcctgggatacccGgaattggaaagccaggccag	13	11	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:99513685G>A	ENST00000261037.3	+	5	1320	c.940G>A	c.(940-942)Gga>Aga	p.G314R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G314R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	314	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGGATACCCGGAATTGGAAA	0.657																																																	0													23	28	26					3																	99513685		2200	4300	6500	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.940G>A	3.37:g.99513685G>A	ENSP00000261037:p.Gly314Arg		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G314R	ENST00000261037.3	37	c.940	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285968	0.59867	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99429	-5.89;-5.89	5.82	5.82	0.92795	.	0.047596	0.85682	N	0.000000	D	0.99609	0.9858	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98225	1.0480	10	0.72032	D	0.01	.	17.5966	0.88013	0.0:0.0:1.0:0.0	.	315;314	E7EPK9;P27658	.;CO8A1_HUMAN	R	314	ENSP00000261037:G314R;ENSP00000273342:G314R	ENSP00000261037:G314R	G	+	1	0	COL8A1	100996375	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.864000	0.99589	2.756000	0.94617	0.655000	0.94253	GGA	COL8A1	-	NULL		0.657	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99513685	1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99513685	G	A	99513685	3	1	43	1	0	0	0	0	1	0	0	0	3710	1117	39	2	946	2	COL8A1	3	99513685	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	50461624	99513685	98508745	16	5907										
GATA2	2624	genome.wustl.edu	37	chr3	128199904	128199904	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ctggacgggtgggggtggccGaaggagaggctggaggaggg	25	5	0	1	rs534807053		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:128199904G>A	ENST00000341105.2	-	6	1732	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.F453F|GATA2_ENST00000487848.1_Silent_p.F467F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	467					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGGGTGGCCGAAGGAGAGGC	0.672			Mis		AML(CML blast transformation)								G|||	1	0.000199681	0	0	5008	,	,		14874	0		0	False		,,,				2504	0.001							Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													32	34	33					3																	128199904		2203	4300	6503	SO:0001819	synonymous_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1401C>T	3.37:g.128199904G>A			D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.F467	ENST00000341105.2	37	c.1401	CCDS3049.1	3																																																																																			GATA2	-	pirsf_TF_GATA-1/2/3		0.672	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	G	NM_032638		128199904	-1	no_errors	ENST00000341105	ensembl	human	known	70_37	silent	SNP	0.992	A	A	128199904	G	A	128199904	2	1	43	1	0	0	0	0	0	0	0	1	6273	1049	37	1		1	GATA2	3	128199904	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	28686219	128199904	69822526	17	5908										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	43	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	50736178	178936082	19086348	18	5909										
KLF3	51274	genome.wustl.edu	37	chr4	38690502	38690502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ccaggcgtgcagcccttcggCgtgccgctgtccatgccacc	12	18	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:38690502C>T	ENST00000261438.5	+	3	659	c.354C>T	c.(352-354)ggC>ggT	p.G118G	KLF3_ENST00000514033.1_Silent_p.G118G	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	118	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCTTCGGCGTGCCGCTGT	0.642																																																	0													52	56	55					4																	38690502		2203	4300	6503	SO:0001819	synonymous_variant	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.354C>T	4.37:g.38690502C>T			Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G118	ENST00000261438.5	37	c.354	CCDS3444.1	4																																																																																			KLF3	-	NULL		0.642	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	C			38690502	1	no_errors	ENST00000261438	ensembl	human	known	70_37	silent	SNP	0.152	T	T	38690502	C	T	38690502	2	4	43	1	0	0	0	0	0	0	0	1	8367	755	27	2		2	KLF3	4	38690502	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		38690502	152463774	19	5910										
MTHFD2L	441024	genome.wustl.edu	37	chr4	75147263	75147263	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ttagttggagatgtggacttCgaaggtaataaaccaatatc	10	5	0	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:75147263C>T	ENST00000395759.2	+	7	954	c.927C>T	c.(925-927)ttC>ttT	p.F309F	MTHFD2L_ENST00000325278.6_Silent_p.F251F	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	309					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATGTGGACTTCGAAGGTAATA	0.338																																																	0													101	101	101					4																	75147263		2203	4300	6503	SO:0001819	synonymous_variant	441024			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.927C>T	4.37:g.75147263C>T			Q6P079|Q8N560	Silent	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.F309	ENST00000395759.2	37	c.927	CCDS47075.1	4																																																																																			MTHFD2L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase		0.338	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		C	NM_001004346		75147263	1	no_errors	ENST00000395759	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75147263	C	T	75147263	2	4	43	1	0	0	0	0	0	0	0	1	9953	883	31	1		1	MTHFD2L	4	75147263	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	36456761	75147263	116007013	20	5911										
NEUROG2	63973	genome.wustl.edu	37	chr4	113436223	113436223	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggggaacgtggggagcacctCgcgcagcgcgtccagtgccg	18	13	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:113436223C>A	ENST00000313341.3	-	2	735	c.409G>T	c.(409-411)Gag>Tag	p.E137*	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	137	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGGAGCACCTCGCGCAGCGCG	0.637																																																	0													64	59	60					4																	113436223		2203	4300	6503	SO:0001587	stop_gained	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.409G>T	4.37:g.113436223C>A	ENSP00000317333:p.Glu137*		Q8N416	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E137*	ENST00000313341.3	37	c.409	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.633592	0.97722	.	.	ENSG00000178403	ENST00000313341	.	.	.	3.76	3.76	0.43208	.	0.000000	0.44688	U	0.000437	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-13.3413	13.1517	0.59492	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000317333:E137X	E	-	1	0	NEUROG2	113655672	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	0.865000	0.27940	1.931000	0.55961	0.563000	0.77884	GAG	NEUROG2	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.637	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	HGNC	protein_coding	OTTHUMT00000256414.1	C	NM_024019		113436223	-1	no_errors	ENST00000313341	ensembl	human	known	70_37	nonsense	SNP	0.995	A	A	113436223	C	A	113436223	4	1	43	1	0	0	0	0	0	1	0	0	10377	893	31	3	413	3	NEUROG2	4	113436223	Nonsense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	38288960	113436223	77718053	21	5912										
RXFP1	59350	genome.wustl.edu	37	chr4	159568153	159568153	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ctgcattgtctatccttttaGatgtgtgagacctggaaaat	9	7	1	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:159568153G>C	ENST00000307765.5	+	16	1807	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	RXFP1_ENST00000470033.1_Missense_Mutation_p.R486T|RXFP1_ENST00000343542.5_Missense_Mutation_p.R471T|RXFP1_ENST00000460056.2_Missense_Mutation_p.R438T|RXFP1_ENST00000448688.2_Missense_Mutation_p.R414T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	519					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TATCCTTTTAGATGTGTGAGA	0.358																																																	0													126	115	119					4																	159568153		1859	4104	5963	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1556G>C	4.37:g.159568153G>C	ENSP00000303248:p.Arg519Thr		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.R519T	ENST00000307765.5	37	c.1556	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267927	0.59540	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.152052	0.56097	D	0.000021	T	0.54367	0.1854	M	0.76170	2.325	0.49051	D	0.999748	P;P;P;P;P;B;P;P	0.45768	0.607;0.866;0.464;0.57;0.735;0.037;0.776;0.607	B;P;B;B;B;B;B;B	0.46208	0.41;0.507;0.41;0.287;0.36;0.071;0.41;0.41	T	0.60016	-0.7345	10	0.62326	D	0.03	.	19.4039	0.94641	0.0:0.0:1.0:0.0	.	530;546;414;471;486;438;389;519	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	T	438;519;414;471;486;389	ENSP00000423306:R438T;ENSP00000303248:R519T;ENSP00000414885:R414T;ENSP00000345889:R471T;ENSP00000420712:R486T	ENSP00000303248:R519T	R	+	2	0	RXFP1	159787603	1.000000	0.71417	0.854000	0.33618	0.980000	0.70556	3.248000	0.51430	2.586000	0.87340	0.650000	0.86243	AGA	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.358	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	G	NM_021634		159568153	1	no_errors	ENST00000307765	ensembl	human	known	70_37	missense	SNP	1.000	C	C	159568153	G	C	159568153	3	2	43	1	0	0	0	0	1	0	0	0	13789	942	33	1	1618	1	RXFP1	4	159568153	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	46131930	159568153	31586123	22	5913										
CDH10	1008	genome.wustl.edu	37	chr5	24509922	24509922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	aagtcttcggctctcatagtCgagtggctgtataaaaaaat	9	7	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:24509922C>T	ENST00000264463.4	-	7	1516	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D337N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTCATAGTCGAGTGGCTGT	0.373										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	large_intestine(1)											48	50	49					5																	24509922		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1009G>A	5.37:g.24509922C>T	ENSP00000264463:p.Asp337Asn		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D337N	ENST00000264463.4	37	c.1009	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816372	0.70912	.	.	ENSG00000040731	ENST00000264463	T	0.63417	-0.04	5.2	5.2	0.72013	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.84683	2.71	0.53688	D	0.999976	P	0.52692	0.955	P	0.45639	0.488	T	0.77925	-0.2405	10	0.54805	T	0.06	.	18.0841	0.89452	0.0:1.0:0.0:0.0	.	337	Q9Y6N8	CAD10_HUMAN	N	337	ENSP00000264463:D337N	ENSP00000264463:D337N	D	-	1	0	CDH10	24545679	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	7.432000	0.80349	2.595000	0.87683	0.561000	0.74099	GAC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24509922	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24509922	C	T	24509922	3	4	43	1	0	0	0	0	1	0	0	0	3101	884	31	1	1381	1	CDH10	5	24509922	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		24509922	156405338	23	5914										
MARCH3	115123	genome.wustl.edu	37	chr5	126214052	126214052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ccatgtcgccaaacagagtcCgcttctcatgctgggggcca	11	14	1	1	rs138413676		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:126214052C>T	ENST00000308660.5	-	4	942	c.428G>A	c.(427-429)cGg>cAg	p.R143Q		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	143					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AAACAGAGTCCGCTTCTCATG	0.582																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	51	41	44		428	4.3	1	5	dbSNP_134	44	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MARCH3	NM_178450.3	43	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	143/254	126214052	4,13002	2203	4300	6503	SO:0001583	missense	115123			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28728	protein-coding gene	gene with protein product		613333	"membrane-associated ring finger (C3HC4) 3"			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.428G>A	5.37:g.126214052C>T	ENSP00000309141:p.Arg143Gln		A8K264|B9EJE7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.R143Q	ENST00000308660.5	37	c.428	CCDS4141.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018427	0.75275	2.27E-4	3.49E-4	ENSG00000173926	ENST00000308660	T	0.24538	1.85	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000012	T	0.47021	0.1423	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	P	0.57720	0.826	T	0.46569	-0.9182	10	0.44086	T	0.13	-13.6346	18.1469	0.89661	0.0:1.0:0.0:0.0	.	143	Q86UD3	MARH3_HUMAN	Q	143	ENSP00000309141:R143Q	ENSP00000309141:R143Q	R	-	2	0	MARCH3	126241951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.882000	0.69714	2.690000	0.91761	0.591000	0.81541	CGG	MARCH3	-	NULL		0.582	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH3	HGNC	protein_coding	OTTHUMT00000250955.2	C	NM_178450		126214052	-1	no_errors	ENST00000308660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126214052	C	T	126214052	3	4	43	1	0	0	0	0	1	0	0	0	9325	652	23	2	341	2	MARCH3	5	126214052	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	101704130	126214052	54701208	24	5915										
MATR3	9782	genome.wustl.edu	37	chr5	138653340	138653340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	acgagggaaaaacttgagatAccagctattacagctggtag	11	7	0	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:138653340A>G	ENST00000394805.3	+	7	1573	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	MATR3_ENST00000394800.2_Missense_Mutation_p.Y413C|MATR3_ENST00000510056.1_Missense_Mutation_p.Y413C|MATR3_ENST00000502929.1_Missense_Mutation_p.Y413C|MATR3_ENST00000504203.1_Missense_Mutation_p.Y75C|MATR3_ENST00000503811.1_Missense_Mutation_p.Y125C|MATR3_ENST00000361059.2_Missense_Mutation_p.Y413C|MATR3_ENST00000509990.1_Missense_Mutation_p.Y413C|MATR3_ENST00000502499.1_Missense_Mutation_p.Y75C	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	413	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AACTTGAGATACCAGCTATTA	0.323																																																	0													61	62	62					5																	138653340		2202	4300	6502	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1238A>G	5.37:g.138653340A>G	ENSP00000378284:p.Tyr413Cys		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Y413C	ENST00000394805.3	37	c.1238	CCDS4210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.20|15.20	2.761776|2.761776	0.49468|0.49468	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000515833|ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811;ENST00000514528	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.77229	.|-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.08;-1.06;-1.02;-1.02;-0.63;-1.02	4.88|4.88	4.88|4.88	0.63580|0.63580	.|RNA recognition motif domain (2);	.|0.189474	.|0.47455	.|D	.|0.000236	T|T	0.73590|0.73590	0.3606|0.3606	N|N	0.08118|0.08118	0|0	0.40102|0.40102	D|D	0.976387|0.976387	.|D;D;D;D;D;D	.|0.69078	.|0.997;0.964;0.997;0.977;0.992;0.983	.|P;B;P;P;D;B	.|0.71414	.|0.808;0.431;0.808;0.615;0.973;0.431	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.38643	.|T	.|0.18	-4.4973|-4.4973	10.4814|10.4814	0.44695|0.44695	0.8547:0.0:0.0:0.1453|0.8547:0.0:0.0:0.1453	.|.	.|125;413;125;413;413;413	.|B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.|.;.;.;.;.;MATR3_HUMAN	A|C	173|413;413;75;413;413;75;413;75;75;413;75;75;413;11;125;149	.|ENSP00000423533:Y413C;ENSP00000354346:Y413C;ENSP00000421218:Y75C;ENSP00000422319:Y413C;ENSP00000378279:Y413C;ENSP00000378284:Y413C;ENSP00000425150:Y75C;ENSP00000423290:Y413C;ENSP00000422700:Y75C;ENSP00000426030:Y75C;ENSP00000426743:Y413C;ENSP00000422649:Y11C;ENSP00000423587:Y125C	.|ENSP00000354346:Y413C	T|Y	+|+	1|2	0|0	MATR3|MATR3	138681239|138681239	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.776000|0.776000	0.43924|0.43924	2.945000|2.945000	0.49043|0.49043	1.840000|1.840000	0.53500|0.53500	0.373000|0.373000	0.22412|0.22412	ACC|TAC	MATR3	-	smart_RRM_dom,pfscan_RRM_dom		0.323	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	A	NM_018834		138653340	1	no_errors	ENST00000361059	ensembl	human	known	70_37	missense	SNP	1.000	G	G	138653340	A	G	138653340	3	3	43	1	0	0	0	0	1	0	0	0	9360	391	14	5	1260	5	MATR3	5	138653340	Missense_Mutation	SNP	A	TCGA-C5-A7CJ-01A-11D-A32I-09	12439288	138653340	42261920	25	5916										
PCDH12	51294	genome.wustl.edu	37	chr5	141335086	141335086	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tgacccctgagcacaggcacGaggtggatgtctgccttctg	13	12	2	2	rs558542016		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:141335086G>A	ENST00000231484.3	-	1	3541	c.2331C>T	c.(2329-2331)ctC>ctT	p.L777L	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	777					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGGCACGAGGTGGATGT	0.602																																																	0													54	45	48					5																	141335086		2203	4300	6503	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2331C>T	5.37:g.141335086G>A			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L777	ENST00000231484.3	37	c.2331	CCDS4269.1	5																																																																																			PCDH12	-	NULL		0.602	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	G	NM_016580		141335086	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	silent	SNP	0.746	A	A	141335086	G	A	141335086	2	1	43	1	0	0	0	0	0	0	0	1	11534	1045	37	1		1	PCDH12	5	141335086	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	2681746	141335086	39580174	26	5917										
RBM27	54439	genome.wustl.edu	37	chr5	145651103	145651103	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	agaccatgtcctctcaaggtCgaggaagaggccgagggcgt	15	10	1	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:145651103C>T	ENST00000265271.5	+	19	3020	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.R897*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	952					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTCAAGGTCGAGGAAGAGG	0.478																																																	0													135	129	131					5																	145651103		1568	3582	5150	SO:0001587	stop_gained	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2854C>T	5.37:g.145651103C>T	ENSP00000265271:p.Arg952*		Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R952*	ENST00000265271.5	37	c.2854	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.945968	0.99012	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.05	4.12	0.48240	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.3579	11.3074	0.49342	0.3586:0.6413:0.0:0.0	.	.	.	.	X	952	.	ENSP00000265271:R952X	R	+	1	2	RBM27	145631296	0.460000	0.25776	1.000000	0.80357	0.990000	0.78478	1.004000	0.29822	2.521000	0.84997	0.655000	0.94253	CGA	RBM27	-	NULL		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	C	XM_291128		145651103	1	no_errors	ENST00000265271	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	145651103	C	T	145651103	4	4	43	1	0	0	0	0	0	1	0	0	13157	876	31	1	2928	1	RBM27	5	145651103	Nonsense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	4316017	145651103	35264157	27	5918										
FOXC1	2296	genome.wustl.edu	37	chr6	1612199	1612199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	agcagcagaacttccactcgGtgcgggagatgttcgagtca	13	10	1	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:1612199G>A	ENST00000380874.2	+	1	1519	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	507					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTCCACTCGGTGCGGGAGAT	0.637																																					Pancreas(133;719 1821 3197 26645 35015)												0													36	27	30					6																	1612199		2196	4297	6493	SO:0001583	missense	2296			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1519G>A	6.37:g.1612199G>A	ENSP00000370256:p.Val507Met		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.V507M	ENST00000380874.2	37	c.1519	CCDS4473.1	6	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533565	0.64972	.	.	ENSG00000054598	ENST00000380874	D	0.82711	-1.64	3.52	2.65	0.31530	.	0.000000	0.56097	U	0.000040	T	0.74619	0.3740	L	0.41492	1.28	0.43399	D	0.995523	D	0.56968	0.978	P	0.52267	0.694	T	0.76906	-0.2786	10	0.87932	D	0	.	10.5894	0.45300	0.0978:0.0:0.9022:0.0	.	507	Q12948	FOXC1_HUMAN	M	507	ENSP00000370256:V507M	ENSP00000370256:V507M	V	+	1	0	FOXC1	1557198	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.670000	0.74467	0.703000	0.31848	0.448000	0.29417	GTG	FOXC1	-	NULL		0.637	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1	G			1612199	1	no_errors	ENST00000380874	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1612199	G	A	1612199	3	1	43	1	0	0	0	0	1	0	0	0	6012	1261	44	4	1521	4	FOXC1	6	1612199	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		1612199	169502868	28	5919										
SERPINB9	5272	genome.wustl.edu	37	chr6	2890801	2890801	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ctcaaaagtgagacttttttCcacctgaaagaccagaatta	6	9	1	4			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:2890801C>A	ENST00000380698.4	-	7	816	c.727G>T	c.(727-729)Gaa>Taa	p.E243*		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	243					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGACTTTTTTCCACCTGAAAG	0.448																																																	0													65	65	65					6																	2890801		2203	4300	6503	SO:0001587	stop_gained	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.727G>T	6.37:g.2890801C>A	ENSP00000370074:p.Glu243*		B2RBW3|Q5TD03	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.E243*	ENST00000380698.4	37	c.727	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.629035	0.97718	.	.	ENSG00000170542	ENST00000380698	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4207	0.87514	0.0:1.0:0.0:0.0	.	.	.	.	X	243	.	ENSP00000370074:E243X	E	-	1	0	SERPINB9	2835800	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.398000	0.79919	2.502000	0.84385	0.655000	0.94253	GAA	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.448	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	C			2890801	-1	no_errors	ENST00000380698	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	2890801	C	A	2890801	4	1	43	1	0	0	0	0	0	1	0	0	14138	864	30	3	407	3	SERPINB9	6	2890801	Nonsense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	1278602	2890801	168224266	29	5920										
FYN	2534	genome.wustl.edu	37	chr6	112041198	112041198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gagctctggttcaggctgccGtccctctcctccgtcagttt	10	15	4	0	rs147662775	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:112041198G>A	ENST00000354650.3	-	4	663	c.57C>T	c.(55-57)gaC>gaT	p.D19D	FYN_ENST00000368667.2_Silent_p.D19D|FYN_ENST00000229470.5_Silent_p.D19D|FYN_ENST00000368678.4_Silent_p.D19D|FYN_ENST00000368682.3_Silent_p.D19D|FYN_ENST00000356013.2_Silent_p.D19D|FYN_ENST00000538466.1_Silent_p.D19D|FYN_ENST00000229471.4_Silent_p.D19D	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	19					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCAGGCTGCCGTCCCTCTCCT	0.527																																																	0								G	,,,	0,4406		0,0,2203	155	112	127		57,57,57,57	-6.2	0.8	6	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FYN	NM_001242779.1,NM_002037.5,NM_153047.3,NM_153048.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	19/486,19/538,19/535,19/483	112041198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.57C>T	6.37:g.112041198G>A			B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D19	ENST00000354650.3	37	c.57	CCDS5094.1	6																																																																																			FYN	-	NULL		0.527	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	G			112041198	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	silent	SNP	0.301	A	A	112041198	G	A	112041198	2	1	43	1	0	0	0	0	0	0	0	1	6144	1136	40	2		2	FYN	6	112041198	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	109150397	112041198	59073869	30	5921										
C6orf192	116843	genome.wustl.edu	37	chr6	133111362	133111362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gcaactcgaacaaagcaaaaCatccaaagatcataccgata	5	11	1	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:133111362C>T	ENST00000275227.4	-	3	329	c.233G>A	c.(232-234)tGt>tAt	p.C78Y	SLC18B1_ENST00000367918.1_Splice_Site|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_Start_Codon_SNP_p.M1I	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	78					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											CAAAGCAAAACATCCAAAGAT	0.308																																																	0													76	75	75					6																	133111362		2196	4296	6492	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.233G>A	6.37:g.133111362C>T	ENSP00000275227:p.Cys78Tyr		A8K1K3|B3KW77|Q6ISF2	Splice_Site	SNP	-	e3+1	ENST00000275227.4	37	c.232+1	CCDS5163.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.17|17.17|17.17	3.322437|3.322437|3.322437	0.60634|0.60634|0.60634	.|.|.	.|.|.	ENSG00000146409|ENSG00000146409|ENSG00000146409	ENST00000367919;ENST00000367918|ENST00000275227|ENST00000538764	.|T|T	.|0.57907|0.30182	.|0.37|1.54	5.08|5.08|5.08	3.25|3.25|3.25	0.37280|0.37280|0.37280	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	.|0.236362|.	.|0.51477|.	.|D|.	.|0.000084|.	.|T|T	.|0.12689|0.12689	.|0.0308|0.0308	M|M|M	0.67953|0.67953|0.67953	2.075|2.075|2.075	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|B	.|0.22211|0.06786	.|0.066|0.001	.|B|B	.|0.32393|0.06405	.|0.145|0.002	.|T|T	.|0.38178|0.38178	.|-0.9673|-0.9673	.|10|9	.|0.02654|0.02654	.|T|T	.|1|1	.|-11.0936|-11.0936	15.1333|15.1333|15.1333	0.72542|0.72542|0.72542	0.0:0.7311:0.2689:0.0|0.0:0.7311:0.2689:0.0|0.0:0.7311:0.2689:0.0	.|.|.	.|78|1	.|Q6NT16|B7Z1S5	.|CF192_HUMAN|.	.|Y|I	-1|78|1	.|ENSP00000275227:C78Y|ENSP00000444098:M1I	.|ENSP00000275227:C78Y|ENSP00000444098:M1I	.|C|M	-|-|-	.|2|3	.|0|0	C6orf192|C6orf192|C6orf192	133153055|133153055|133153055	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	4.238000|4.238000|4.238000	0.58688|0.58688|0.58688	0.607000|0.607000|0.607000	0.29982|0.29982|0.29982	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|TGT|ATG	SLC18B1	-	-		0.308	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	C	NM_052831		133111362	-1	no_errors	ENST00000367918	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	133111362	C	T	133111362	3	4	43	1	0	0	0	0	1	0	0	0	2354	478	17	4	1185	4	C6orf192	6	133111362	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	21070164	133111362	38003705	31	5922										
ALDH8A1	64577	genome.wustl.edu	37	chr6	135254073	135254073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tcagcggtgggctggctcccGgtgaaggagatcaggggcac	18	10	2	2	rs138741870	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:135254073G>A	ENST00000265605.2	-	5	758	c.690C>T	c.(688-690)acC>acT	p.T230T	ALDH8A1_ENST00000367847.2_Silent_p.T180T|ALDH8A1_ENST00000367845.2_Silent_p.T230T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	230					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T230T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCTGGCTCCCGGTGAAGGAGA	0.622																																																	1	Substitution - coding silent(1)	endometrium(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	44	47	46		540,690,690	-10.9	0.4	6	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	180/438,230/488,230/434	135254073	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.690C>T	6.37:g.135254073G>A			B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.T230	ENST00000265605.2	37	c.690	CCDS5171.1	6																																																																																			ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.622	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	G			135254073	-1	no_errors	ENST00000265605	ensembl	human	known	70_37	silent	SNP	0.053	A	A	135254073	G	A	135254073	2	1	43	1	0	0	0	0	0	0	0	1	505	1103	39	2		2	ALDH8A1	6	135254073	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	2142711	135254073	35860994	32	5923										
AKAP12	9590	genome.wustl.edu	37	chr6	151673794	151673794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggcatcattcactctaacagCggctgcagaggaggaaaagg	13	9	3	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:151673794C>T	ENST00000253332.1	+	3	4457	c.4268C>T	c.(4267-4269)gCg>gTg	p.A1423V	AKAP12_ENST00000354675.6_Missense_Mutation_p.A1325V|AKAP12_ENST00000359755.5_Missense_Mutation_p.A1318V|AKAP12_ENST00000402676.2_Missense_Mutation_p.A1423V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1423					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACTCTAACAGCGGCTGCAGAG	0.483																																					Melanoma(141;1616 1805 10049 24534 51979)												0													78	81	80					6																	151673794		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4268C>T	6.37:g.151673794C>T	ENSP00000253332:p.Ala1423Val		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.A1423V	ENST00000253332.1	37	c.4268	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	9.540	1.113041	0.20795	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12569	2.67;2.67;2.68;2.68	4.86	3.0	0.34707	.	1.234910	0.06340	N	0.707813	T	0.02533	0.0077	N	0.20986	0.625	0.09310	N	1	B;B;B	0.30021	0.265;0.078;0.173	B;B;B	0.23852	0.049;0.049;0.022	T	0.45804	-0.9236	10	0.27785	T	0.31	.	5.0852	0.14678	0.1624:0.6557:0.0:0.182	.	1318;1325;1423	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	V	1423;1423;1325;1318	ENSP00000384537:A1423V;ENSP00000253332:A1423V;ENSP00000346702:A1325V;ENSP00000352794:A1318V	ENSP00000253332:A1423V	A	+	2	0	AKAP12	151715487	0.019000	0.18553	0.003000	0.11579	0.035000	0.12851	0.212000	0.17497	0.513000	0.28278	0.650000	0.86243	GCG	AKAP12	-	NULL		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151673794	1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.027	T	T	151673794	C	T	151673794	3	4	43	1	0	0	0	0	1	0	0	0	448	768	27	2	4307	2	AKAP12	6	151673794	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	16419721	151673794	19441273	33	5924										
MLLT4	4301	genome.wustl.edu	37	chr6	168316019	168316019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gtgctcccattactggggtgCgattatccgtcagcagttgg	13	10	1	0	rs201360618		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:168316019C>A	ENST00000447894.2	+	18	2450	c.2450C>A	c.(2449-2451)gCg>gAg	p.A817E	MLLT4_ENST00000366806.2_Missense_Mutation_p.A817E|MLLT4_ENST00000392112.1_Missense_Mutation_p.A801E|MLLT4_ENST00000392108.3_Missense_Mutation_p.A817E|MLLT4_ENST00000351017.4_Missense_Mutation_p.A824E|MLLT4_ENST00000400822.3_Missense_Mutation_p.A816E|MLLT4_ENST00000344191.4_Missense_Mutation_p.A817E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	817	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TACTGGGGTGCGATTATCCGT	0.537			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													93	78	83					6																	168316019		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2450C>A	6.37:g.168316019C>A	ENSP00000404595:p.Ala817Glu		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.A817E	ENST00000447894.2	37	c.2450		6	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036553	0.54896	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04809	3.74;3.69;3.75;3.75;3.55;3.64;3.66	5.9	5.9	0.94986	Dilute (1);Dil domain (1);	0.061512	0.64402	D	0.000004	T	0.05868	0.0153	N	0.05124	-0.11	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;0.973;0.985	D;D;P;P	0.87578	0.961;0.998;0.88;0.88	T	0.60005	-0.7347	10	0.48119	T	0.1	-0.229	20.2789	0.98501	0.0:1.0:0.0:0.0	.	817;816;817;801	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	817;824;817;817;801;817;816;817	ENSP00000341118:A817E;ENSP00000252692:A824E;ENSP00000375956:A817E;ENSP00000355771:A817E;ENSP00000375960:A801E;ENSP00000383623:A816E;ENSP00000404595:A817E	ENSP00000345834:A817E	A	+	2	0	MLLT4	168058868	1.000000	0.71417	0.205000	0.23548	0.002000	0.02628	7.658000	0.83755	2.788000	0.95919	0.650000	0.86243	GCG	MLLT4	-	pfam_Dil_domain,pfscan_Dilute		0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168316019	1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	168316019	C	A	168316019	3	1	43	1	0	0	0	0	1	0	0	0	9652	768	27	2	2520	2	MLLT4	6	168316019	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	16642225	168316019	2799048	34	5925										
ISPD	729920	genome.wustl.edu	37	chr7	16255786	16255786	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cattaggttttccattttctGactgggaggtactaatttaa	8	6	1	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:16255786G>A	ENST00000407010.2	-	9	1155	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ISPD-AS1_ENST00000582683.1_RNA|ISPD-AS1_ENST00000457112.1_RNA|ISPD_ENST00000399310.3_Nonsense_Mutation_p.Q336*|ISPD-AS1_ENST00000438573.1_RNA|ISPD-AS1_ENST00000579293.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	386					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCCATTTTCTGACTGGGAGGT	0.323										Multiple Myeloma(15;0.18)																																							0													56	52	53					7																	16255786		1787	4054	5841	SO:0001587	stop_gained	729920			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1156C>T	7.37:g.16255786G>A	ENSP00000385478:p.Gln386*		A8MU35|H9KVB2	Nonsense_Mutation	SNP	pfam_ISPD_synthase	p.Q386*	ENST00000407010.2	37	c.1156		7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652282	0.88056	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	.	.	.	5.22	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.5154	11.6808	0.51457	0.0:0.4612:0.5388:0.0	.	.	.	.	X	386;336	.	ENSP00000382249:Q336X	Q	-	1	0	ISPD	16222311	0.065000	0.20965	0.994000	0.49952	0.555000	0.35460	0.072000	0.14617	1.309000	0.44985	0.591000	0.81541	CAG	ISPD	-	NULL		0.323	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4	G	NM_001101426		16255786	-1	no_errors	ENST00000407010	ensembl	human	known	70_37	nonsense	SNP	0.987	A	A	16255786	G	A	16255786	4	1	43	1	0	0	0	0	0	1	0	0	7884	1299	45	1	207	1	ISPD	7	16255786	Nonsense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		16255786	142882877	35	5926										
AGFG2	3268	genome.wustl.edu	37	chr7	100146506	100146506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tgacaactttcactgagcctGaagtagtattcctgcaatcc	7	11	1	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:100146506G>A	ENST00000300176.4	+	2	405	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	AGFG2_ENST00000262935.4_Missense_Mutation_p.E95K	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	95	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTGAGCCTGAAGTAGTATT	0.498																																																	0													126	101	110					7																	100146506		2203	4300	6503	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.283G>A	7.37:g.100146506G>A	ENSP00000300176:p.Glu95Lys		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E95K	ENST00000300176.4	37	c.283	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.677581	0.96764	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.45276	0.9;0.9	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.91663	3.23	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	T	0.78280	-0.2265	10	0.87932	D	0	-18.6473	18.0773	0.89431	0.0:0.0:1.0:0.0	.	95;95	O95081-2;O95081	.;AGFG2_HUMAN	K	95	ENSP00000300176:E95K;ENSP00000262935:E95K	ENSP00000262935:E95K	E	+	1	0	AGFG2	99984442	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.944000	0.92980	2.870000	0.98441	0.638000	0.83543	GAA	AGFG2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.498	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	G	NM_006076		100146506	1	no_errors	ENST00000300176	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100146506	G	A	100146506	3	1	43	1	0	0	0	0	1	0	0	0	381	1291	45	1	289	1	AGFG2	7	100146506	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	83890720	100146506	58992157	36	5927										
NOS3	4846	genome.wustl.edu	37	chr7	150707711	150707711	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cgacgctacgaggagtggaaGtggttccgctgccccacgct	14	13	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:150707711G>C	ENST00000297494.3	+	22	3069	c.2712G>C	c.(2710-2712)aaG>aaC	p.K904N	NOS3_ENST00000461406.1_Missense_Mutation_p.K698N|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGTGGAAGTGGTTCCGCT	0.677																																																	0													28	27	27					7																	150707711		2202	4296	6498	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2712G>C	7.37:g.150707711G>C	ENSP00000297494:p.Lys904Asn		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.K904N	ENST00000297494.3	37	c.2712	CCDS5912.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.596808|4.596808	0.86953|0.86953	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000297494;ENST00000461406|ENST00000475017	T;T|.	0.33216|.	1.42;1.42|.	5.06|5.06	4.1|4.1	0.47936|0.47936	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.66157|0.66157	0.2761|0.2761	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.97110|.	1.0;0.992|.	T|T	0.65183|0.65183	-0.6230|-0.6230	10|5	0.72032|.	D|.	0.01|.	-7.3854|-7.3854	10.2731|10.2731	0.43493|0.43493	0.1038:0.0:0.8962:0.0|0.1038:0.0:0.8962:0.0	.|.	698;904|.	E7ESA7;P29474|.	.;NOS3_HUMAN|.	N|T	904;698|198	ENSP00000297494:K904N;ENSP00000417143:K698N|.	ENSP00000297494:K904N|.	K|S	+|+	3|2	2|0	NOS3|NOS3	150338644|150338644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.664000|2.664000	0.46783|0.46783	2.630000|2.630000	0.89119|0.89119	0.491000|0.491000	0.48974|0.48974	AAG|AGT	NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150707711	1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150707711	G	C	150707711	3	2	43	1	0	0	0	0	1	0	0	0	10568	1020	36	4	3076	4	NOS3	7	150707711	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	50561205	150707711	8430952	37	5928			2	27		2	2	35	G		9.335175e-05
NOS3	4846	genome.wustl.edu	37	chr7	150707745	150707745	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ccacgctgctggaggtgctgGagcagttcccgtcggtggcg	17	12	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:150707745G>T	ENST00000297494.3	+	22	3103	c.2746G>T	c.(2746-2748)Gag>Tag	p.E916*	NOS3_ENST00000461406.1_Nonsense_Mutation_p.E710*|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGTGCTGGAGCAGTTCCC	0.682																																																	0													35	34	34					7																	150707745		2202	4298	6500	SO:0001587	stop_gained	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2746G>T	7.37:g.150707745G>T	ENSP00000297494:p.Glu916*		Q495E5	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E916*	ENST00000297494.3	37	c.2746	CCDS5912.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.767471|10.767471	0.99464|0.99464	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000297494;ENST00000461406|ENST00000475017	.|.	.|.	.|.	5.06|5.06	4.17|4.17	0.49024|0.49024	.|.	0.085756|.	0.47852|.	D|.	0.000209|.	.|T	.|0.62405	.|0.2425	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60772	.|-0.7197	.|4	0.66056|.	D|.	0.02|.	-23.4378|-23.4378	11.2018|11.2018	0.48745|0.48745	0.089:0.0:0.911:0.0|0.089:0.0:0.911:0.0	.|.	.|.	.|.	.|.	X|C	916;710|209	.|.	ENSP00000297494:E916X|.	E|W	+|+	1|3	0|0	NOS3|NOS3	150338678|150338678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	6.429000|6.429000	0.73387|0.73387	1.355000|1.355000	0.45865|0.45865	0.491000|0.491000	0.48974|0.48974	GAG|TGG	NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150707745	1	no_errors	ENST00000297494	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	150707745	G	T	150707745	4	4	43	1	0	0	0	0	0	1	0	0	10568	1175	41	3	3110	3	NOS3	7	150707745	Nonsense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	34	150707745	8430918	38	5929			2	27		2	2	35	G		9.335175e-05
TRHR	7201	genome.wustl.edu	37	chr8	110100474	110100474	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	caacccatcagaacacaaatCtgaatgtaaatacctctaat	3	11	3	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr8:110100474C>T	ENST00000518632.1	+	2	1084	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	TRHR_ENST00000311762.2_Silent_p.L245L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAACACAAATCTGAATGTAAA	0.358																																																	0													45	45	45					8																	110100474		2200	4300	6500	SO:0001819	synonymous_variant	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.733C>T	8.37:g.110100474C>T			Q2M339	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Trelhrm_rcpt,prints_Thyrotropin_RHR,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L245	ENST00000518632.1	37	c.733	CCDS6311.1	8																																																																																			TRHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.358	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	TRHR	HGNC	protein_coding	OTTHUMT00000380892.1	C			110100474	1	no_errors	ENST00000311762	ensembl	human	known	70_37	silent	SNP	0.060	T	T	110100474	C	T	110100474	2	4	43	1	0	0	0	0	0	0	0	1	16511	912	32	1		1	TRHR	8	110100474	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		110100474	36263548	39	5930										
ENPP2	5168	genome.wustl.edu	37	chr8	120628593	120628593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	caggatcatacattgaattgCcaacaattccatgtgattct	6	9	2	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr8:120628593C>A	ENST00000075322.6	-	8	747	c.689G>T	c.(688-690)gGc>gTc	p.G230V	ENPP2_ENST00000259486.6_Missense_Mutation_p.G230V|ENPP2_ENST00000427067.2_Missense_Mutation_p.G226V|ENPP2_ENST00000522826.1_Missense_Mutation_p.G230V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	230					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATTGAATTGCCAACAATTCC	0.353																																					Melanoma(20;305 879 2501 4818 31020)												0													98	90	93					8																	120628593		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.689G>T	8.37:g.120628593C>A	ENSP00000075322:p.Gly230Val		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G230V	ENST00000075322.6	37	c.689	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302052	0.81136	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.093945	0.64402	D	0.000001	D	0.90287	0.6962	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90871	0.4746	10	0.72032	D	0.01	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	230;230;230	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	V	230;226;230;230;212	ENSP00000259486:G230V;ENSP00000403315:G226V;ENSP00000428291:G230V;ENSP00000075322:G230V;ENSP00000428304:G212V	ENSP00000075322:G230V	G	-	2	0	ENPP2	120697774	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.958000	0.63660	2.605000	0.88082	0.563000	0.77884	GGC	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.353	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120628593	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120628593	C	A	120628593	3	1	43	1	0	0	0	0	1	0	0	0	5142	739	26	4	2213	4	ENPP2	8	120628593	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	10528119	120628593	25735429	40	5931										
COL15A1	1306	genome.wustl.edu	37	chr9	101748164	101748164	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggatcatcctctactacacgGagccaggctcccatgtgtcc	9	15	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:101748164G>T	ENST00000375001.3	+	3	841	c.418G>T	c.(418-420)Gag>Tag	p.E140*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	140	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTACTACACGGAGCCAGGCTC	0.607																																																	0													101	94	97					9																	101748164		2203	4300	6503	SO:0001587	stop_gained	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.418G>T	9.37:g.101748164G>T	ENSP00000364140:p.Glu140*		Q5T6J4|Q9UDC5|Q9Y4W4	Nonsense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E140*	ENST00000375001.3	37	c.418	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.170928	0.98111	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	.	.	.	5.25	5.25	0.73442	.	0.051896	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.6961	16.6967	0.85337	0.0:0.0:1.0:0.0	.	.	.	.	X	140;110	.	ENSP00000364140:E140X	E	+	1	0	COL15A1	100787985	1.000000	0.71417	0.992000	0.48379	0.547000	0.35210	9.813000	0.99286	2.608000	0.88229	0.650000	0.86243	GAG	COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855		101748164	1	no_errors	ENST00000375001	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	101748164	G	T	101748164	4	4	43	1	0	0	0	0	0	1	0	0	3677	1175	41	3	428	3	COL15A1	9	101748164	Nonsense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		101748164	39465267	41	5932										
RGS3	5998	genome.wustl.edu	37	chr9	116359190	116359190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ctttctccgttctgacctctAcctggaccttattaaccaga	5	14	3	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:116359190A>G	ENST00000374140.2	+	26	3763	c.3554A>G	c.(3553-3555)tAc>tGc	p.Y1185C	RGS3_ENST00000343817.5_Missense_Mutation_p.Y904C|RGS3_ENST00000394646.3_Missense_Mutation_p.Y578C|RGS3_ENST00000342620.5_Missense_Mutation_p.Y155C|RGS3_ENST00000462143.1_Missense_Mutation_p.Y506C|RGS3_ENST00000374134.3_Missense_Mutation_p.Y506C|RGS3_ENST00000462403.1_Missense_Mutation_p.Y298C|RGS3_ENST00000350696.5_Missense_Mutation_p.Y1185C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1185	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTGACCTCTACCTGGACCTT	0.607																																																	0													112	97	102					9																	116359190		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3554A>G	9.37:g.116359190A>G	ENSP00000363255:p.Tyr1185Cys		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Y1185C	ENST00000374140.2	37	c.3554	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231073	0.79688	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	5.22	5.22	0.72569	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.309084	0.26719	N	0.022860	T	0.35158	0.0922	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0	T	0.56282	-0.8005	10	0.87932	D	0	.	14.3538	0.66722	1.0:0.0:0.0:0.0	.	578;298;1081;904;1075;1185	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	C	1185;1185;904;578;353;506;155;506;298	ENSP00000363255:Y1185C;ENSP00000259406:Y1185C;ENSP00000340284:Y904C;ENSP00000378141:Y578C;ENSP00000420356:Y506C;ENSP00000343359:Y155C;ENSP00000363249:Y506C;ENSP00000436168:Y298C	ENSP00000343359:Y155C	Y	+	2	0	RGS3	115399011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	1.979000	0.57680	0.454000	0.30748	TAC	RGS3	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	A	NM_017790		116359190	1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	1.000	G	G	116359190	A	G	116359190	3	3	43	1	0	0	0	0	1	0	0	0	13336	391	14	5	4328	5	RGS3	9	116359190	Missense_Mutation	SNP	A	TCGA-C5-A7CJ-01A-11D-A32I-09	14611026	116359190	24854241	42	5933										
SUV39H2	79723	genome.wustl.edu	37	chr10	14938928	14938928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ttgcaaaatctgaagtgcccGttactgcttcagcaattctc	7	11	3	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:14938928G>A	ENST00000354919.6	+	3	261	c.261G>A	c.(259-261)ccG>ccA	p.P87P	SUV39H2_ENST00000313519.5_Silent_p.P27P|SUV39H2_ENST00000378325.3_Silent_p.P87P	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	87	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGAAGTGCCCGTTACTGCTTC	0.328																																																	0													69	75	73					10																	14938928		2203	4300	6503	SO:0001819	synonymous_variant	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.261G>A	10.37:g.14938928G>A			D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	NULL	p.V39I	ENST00000354919.6	37	c.115	CCDS53494.1	10																																																																																			SUV39H2	-	NULL		0.328	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H2	HGNC	protein_coding	OTTHUMT00000046947.2	G	NM_024670		14938928	1	no_errors	ENST00000378331	ensembl	human	known	70_37	missense	SNP	0.917	A	A	14938928	G	A	14938928	2	1	43	1	0	0	0	0	0	0	0	1	15443	1132	40	2		2	SUV39H2	10	14938928	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		14938928	120595819	43	5934										
MPP7	143098	genome.wustl.edu	37	chr10	28420622	28420622	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	catgtacagagagcaaagccTgtaatattcaaaggttgatt	9	6	1	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:28420622T>C	ENST00000375732.1	-	6	575		c.e6-2		MPP7_ENST00000445954.2_Splice_Site|MPP7_ENST00000375719.3_Splice_Site|MPP7_ENST00000481244.1_Splice_Site|MPP7_ENST00000337532.5_Splice_Site|MPP7_ENST00000540098.1_Splice_Site			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)						establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GAGCAAAGCCTGTAATATTCA	0.308																																																	0													72	65	68					10																	28420622		2203	4300	6503	SO:0001630	splice_region_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.316-2A>G	10.37:g.28420622T>C			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Splice_Site	SNP	-	e5-2	ENST00000375732.1	37	c.316-2	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636675	0.67130	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.68	0.77360	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPP7	28460628	1.000000	0.71417	0.925000	0.36789	0.678000	0.39670	7.844000	0.86867	2.190000	0.69967	0.454000	0.30748	.	MPP7	-	-		0.308	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	T	NM_173496	Intron	28420622	-1	no_errors	ENST00000337532	ensembl	human	known	70_37	splice_site	SNP	0.999	C	C	28420622	T	C	28420622	5	2	43	1	0	0	0	0	0	0	1	0	9762	1594	55	5	1464	5	MPP7	10	28420622	Splice_Site	SNP	T	TCGA-C5-A7CJ-01A-11D-A32I-09	13481694	28420622	107114125	44	5935										
MYPN	84665	genome.wustl.edu	37	chr10	69902782	69902782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tgcactcactgaccattgcgGaagcctttgaagaggacaca	10	11	1	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:69902782G>A	ENST00000358913.5	+	3	1476	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	MYPN_ENST00000540630.1_Missense_Mutation_p.E330K|MYPN_ENST00000354393.2_Missense_Mutation_p.E55K|MYPN_ENST00000373675.3_Missense_Mutation_p.E330K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	330	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GACCATTGCGGAAGCCTTTGA	0.453																																																	0													120	109	113					10																	69902782		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.988G>A	10.37:g.69902782G>A	ENSP00000351790:p.Glu330Lys		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E330K	ENST00000358913.5	37	c.988	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.798680	0.96960	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.69435	1.07;-0.4;-0.4;-0.4	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	L	0.59912	1.85	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.999	D;D;D;D	0.87578	0.991;0.997;0.998;0.996	T	0.77978	-0.2384	9	.	.	.	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	330;330;55;330	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	K	55;55;330;330;330	ENSP00000346369:E55K;ENSP00000351790:E330K;ENSP00000441668:E330K;ENSP00000362779:E330K	.	E	+	1	0	MYPN	69572788	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.776000	0.99001	2.625000	0.88918	0.655000	0.94253	GAA	MYPN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.453	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	G	NM_032578		69902782	1	no_errors	ENST00000358913	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69902782	G	A	69902782	3	1	43	1	0	0	0	0	1	0	0	0	10121	1175	41	1	994	1	MYPN	10	69902782	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	41482160	69902782	65631965	45	5936										
NRAP	3026	genome.wustl.edu	37	chr10	115350427	115350427	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggcaggggctgcctgtagtgCacatcactggccagctgctg	15	12	1	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:115350427C>G	ENST00000351270.3	+	0	3009				NRAP_ENST00000369358.4_Silent_p.V1630V|NRAP_ENST00000360478.3_Silent_p.V1587V|NRAP_ENST00000369360.3_Silent_p.V1595V|NRAP_ENST00000359988.3_Silent_p.V1622V	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCCTGTAGTGCACATCACTGG	0.637																																																	0													69	69	69					10																	115350427		2203	4300	6503	SO:0001628	intergenic_variant	4892				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115350427C>G			A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.V1630	ENST00000351270.3	37	c.4890	CCDS7577.1	10																																																																																			NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.637	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115350427	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	silent	SNP	0.137	G	G	115350427	C	G	115350427	1	3	43	0	1	0	0	0	0	0	0	0	10662	697	25	4		4	NRAP	10	115350427	IGR	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	45447645	115350427	20184320	46	5937										
OR51F1	256892	genome.wustl.edu	37	chr11	4790839	4790839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gtgaatccatgaagaaaaaaCatctggacaatgcagctata	8	7	1	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:4790839C>A	ENST00000380383.1	-	1	329	c.330G>T	c.(328-330)atG>atT	p.M110I	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.M103I|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAGAAAAAACATCTGGACAA	0.448																																																	0													73	71	72					11																	4790839		2201	4298	6499	SO:0001583	missense	256892			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.330G>T	11.37:g.4790839C>A	ENSP00000369744:p.Met110Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M110I	ENST00000380383.1	37	c.330		11	.	.	.	.	.	.	.	.	.	.	c	17.17	3.321116	0.60634	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.02944	4.1;4.1	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.093194	0.46758	D	0.000269	T	0.06554	0.0168	M	0.79343	2.45	0.30726	N	0.747755	P	0.41624	0.757	B	0.40864	0.342	T	0.01424	-1.1358	10	0.87932	D	0	.	11.9998	0.53224	0.1731:0.8269:0.0:0.0	.	110	A6NGY5	O51F1_HUMAN	I	103;110	ENSP00000345163:M103I;ENSP00000369744:M110I	ENSP00000345163:M103I	M	-	3	0	OR51F1	4747415	0.920000	0.31207	1.000000	0.80357	0.947000	0.59692	0.577000	0.23758	2.562000	0.86427	0.580000	0.79431	ATG	OR51F1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		C	NM_001004752		4790839	-1	no_errors	ENST00000380383	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4790839	C	A	4790839	3	1	43	1	0	0	0	0	1	0	0	0	11120	478	17	4	632	4	OR51F1	11	4790839	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		4790839	130215677	47	5938										
MRGPRX1	259249	genome.wustl.edu	37	chr11	18955962	18955962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gtaccagatgggccacaggaCggacaggcagcgctcggtgc	16	12	0	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:18955962C>T	ENST00000302797.3	-	1	594	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	124					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCCACAGGACGGACAGGCAG	0.602																																																	0													94	85	88					11																	18955962		2194	4286	6480	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.370G>A	11.37:g.18955962C>T	ENSP00000305766:p.Val124Ile		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V124I	ENST00000302797.3	37	c.370	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	14.56	2.570731	0.45798	.	.	ENSG00000170255	ENST00000302797	T	0.65364	-0.15	2.28	-0.0116	0.13991	GPCR, rhodopsin-like superfamily (1);	0.801478	0.11294	N	0.578906	T	0.55049	0.1896	L	0.49455	1.56	0.21782	N	0.999548	B	0.30021	0.265	B	0.37198	0.243	T	0.51268	-0.8727	10	0.45353	T	0.12	.	6.0937	0.20008	0.0:0.6494:0.0:0.3506	.	124	Q96LB2	MRGX1_HUMAN	I	124	ENSP00000305766:V124I	ENSP00000305766:V124I	V	-	1	0	MRGPRX1	18912538	0.000000	0.05858	0.012000	0.15200	0.525000	0.34531	-0.172000	0.09868	-0.003000	0.14444	0.491000	0.48974	GTC	MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.602	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	C	NM_147199		18955962	-1	no_errors	ENST00000302797	ensembl	human	known	70_37	missense	SNP	0.853	T	T	18955962	C	T	18955962	3	4	43	1	0	0	0	0	1	0	0	0	9789	536	19	2	602	2	MRGPRX1	11	18955962	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	14165123	18955962	116050554	48	5939										
DGKZ	8525	genome.wustl.edu	37	chr11	46397639	46397639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tgccgctgggcactgtggtgGtcccaggagacagtgaccta	15	11	0	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:46397639G>T	ENST00000454345.1	+	23	2724	c.2599G>T	c.(2599-2601)Gtc>Ttc	p.V867F	DGKZ_ENST00000421244.2_Missense_Mutation_p.V679F|DGKZ_ENST00000456247.2_Missense_Mutation_p.V678F|DGKZ_ENST00000527911.1_Missense_Mutation_p.V679F|DGKZ_ENST00000343674.6_Missense_Mutation_p.V695F|DGKZ_ENST00000395574.3_Missense_Mutation_p.V645F|DGKZ_ENST00000528615.1_Missense_Mutation_p.V457F|DGKZ_ENST00000318201.8_Missense_Mutation_p.V656F|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.V683F|MIR4688_ENST00000577966.1_RNA	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	867					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CACTGTGGTGGTCCCAGGAGA	0.672																																																	0													54	58	57					11																	46397639		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2599G>T	11.37:g.46397639G>T	ENSP00000412178:p.Val867Phe		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V867F	ENST00000454345.1	37	c.2599	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522276	0.64747	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.30981	2.13;2.38;2.35;2.4;3.31;2.15;2.22;2.35;1.51	4.87	3.95	0.45737	.	0.060835	0.64402	N	0.000004	T	0.27594	0.0678	L	0.37697	1.125	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.31859	0.121;0.121;0.343;0.054;0.121;0.086;0.037;0.136;0.197	B;B;B;B;B;B;B;B;B	0.32762	0.072;0.072;0.109;0.049;0.114;0.152;0.105;0.076;0.114	T	0.13124	-1.0521	10	0.87932	D	0	.	14.7942	0.69865	0.0:0.0:0.8542:0.1457	.	656;644;622;679;867;678;679;645;695	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	F	695;457;645;644;679;678;679;656;867	ENSP00000343065:V695F;ENSP00000434719:V457F;ENSP00000378941:V645F;ENSP00000436273:V644F;ENSP00000436291:V679F;ENSP00000395684:V678F;ENSP00000391021:V679F;ENSP00000320340:V656F;ENSP00000412178:V867F	ENSP00000320340:V656F	V	+	1	0	DGKZ	46354215	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.270000	0.78493	1.177000	0.42855	0.462000	0.41574	GTC	DGKZ	-	NULL		0.672	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46397639	1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46397639	G	T	46397639	3	4	43	1	0	0	0	0	1	0	0	0	4484	1261	44	4	3132	4	DGKZ	11	46397639	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	27441677	46397639	88608877	49	5940										
KBTBD4	55709	genome.wustl.edu	37	chr11	47595183	47595183	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ccctcccaccacatacaagtCtccaccatgcttgcaggccg	6	19	1	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:47595183C>G	ENST00000526005.1	-	4	1009	c.856G>C	c.(856-858)Gac>Cac	p.D286H	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.D286H|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_Missense_Mutation_p.D311H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.D302H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	286										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACATACAAGTCTCCACCATGC	0.567																																																	0													91	68	76					11																	47595183		2201	4298	6499	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.856G>C	11.37:g.47595183C>G	ENSP00000433340:p.Asp286His		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.D302H	ENST00000526005.1	37	c.904	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318798	0.81469	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.72	5.72	0.89469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.39898	1.24	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.66	D;D;P	0.80764	0.994;0.945;0.511	T	0.75303	-0.3365	10	0.44086	T	0.13	-24.1813	19.8751	0.96867	0.0:1.0:0.0:0.0	.	302;286;311	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	H	286;311;286;295;302	ENSP00000433340:D286H;ENSP00000436713:D311H;ENSP00000378703:D286H;ENSP00000415106:D302H	ENSP00000352971:D295H	D	-	1	0	KBTBD4	47551759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.485000	0.81204	2.695000	0.91970	0.655000	0.94253	GAC	KBTBD4	-	NULL		0.567	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	C	NM_016506		47595183	-1	no_errors	ENST00000430070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47595183	C	G	47595183	3	3	43	1	0	0	0	0	1	0	0	0	8015	913	32	1	704	1	KBTBD4	11	47595183	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	1197544	47595183	87411333	50	5941										
GAL3ST3	89792	genome.wustl.edu	37	chr11	65810621	65810621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ccaggtaggcggcgtcgtcgCgcgggctgcgctcattgtcg	17	13	1	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:65810621C>T	ENST00000312006.4	-	3	934	c.653G>A	c.(652-654)cGc>cAc	p.R218H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R218H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	218					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGTCGTCGCGCGGGCTGCG	0.667																																																	0													33	38	36					11																	65810621		2199	4292	6491	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.653G>A	11.37:g.65810621C>T	ENSP00000308591:p.Arg218His		Q14D05	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R218H	ENST00000312006.4	37	c.653	CCDS8128.1	11	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360790	0.61403	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.15487	2.42;2.42	4.3	4.3	0.51218	.	0.293572	0.29480	N	0.012023	T	0.28797	0.0714	M	0.61703	1.905	0.27069	N	0.963367	D	0.67145	0.996	P	0.56788	0.806	T	0.10042	-1.0647	10	0.15499	T	0.54	-19.672	12.6472	0.56742	0.0:1.0:0.0:0.0	.	218	Q96A11	G3ST3_HUMAN	H	218	ENSP00000308591:R218H;ENSP00000434829:R218H	ENSP00000308591:R218H	R	-	2	0	GAL3ST3	65567197	0.891000	0.30450	0.999000	0.59377	0.982000	0.71751	1.742000	0.38248	2.103000	0.63969	0.561000	0.74099	CGC	GAL3ST3	-	pfam_Gal-3-0_sulfotransfrase		0.667	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST3	HGNC	protein_coding	OTTHUMT00000391052.1	C	NM_033036		65810621	-1	no_errors	ENST00000312006	ensembl	human	known	70_37	missense	SNP	0.560	T	T	65810621	C	T	65810621	3	4	43	1	0	0	0	0	1	0	0	0	6218	768	27	2	646	2	GAL3ST3	11	65810621	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	18215438	65810621	69195895	51	5942										
DSCAML1	57453	genome.wustl.edu	37	chr11	117395799	117395799	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggggatcgactcagcagggtCtggaaggcagagagggtcgg	20	7	2	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:117395799C>T	ENST00000321322.6	-	5	840		c.e5-1		DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCAGCAGGGTCTGGAAGGCAG	0.687																																																	0													11	8	9					11																	117395799		2155	4230	6385	SO:0001630	splice_region_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.839-1G>A	11.37:g.117395799C>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Splice_Site	SNP	-	e5-1	ENST00000321322.6	37	c.839-1	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758332	0.89843	.	.	ENSG00000177103	ENST00000321322	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1313	0.89602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAML1	116901009	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.595000	0.82710	2.531000	0.85337	0.555000	0.69702	.	DSCAML1	-	-		0.687	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693	Intron	117395799	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	117395799	C	T	117395799	5	4	43	1	0	0	0	0	0	0	1	0	4779	927	32	1	5619	1	DSCAML1	11	117395799	Splice_Site	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	51585178	117395799	17610717	52	5943										
LRRK2	120892	genome.wustl.edu	37	chr12	40745533	40745533	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	atactgaaggatacacttctGaggtaaatccaaatgctctt	7	8	2	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr12:40745533G>C	ENST00000298910.7	+	44	6632	c.6574G>C	c.(6574-6576)Gag>Cag	p.E2192Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2192					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACACTTCTGAGGTAAATCC	0.368																																																	0													54	60	58					12																	40745533		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6574G>C	12.37:g.40745533G>C	ENSP00000298910:p.Glu2192Gln		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.E2192Q	ENST00000298910.7	37	c.6574	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973260	0.34848	.	.	ENSG00000188906	ENST00000298910	T	0.71934	-0.61	6.06	5.16	0.70880	WD40 repeat-like-containing domain (1);	0.092168	0.85682	D	0.000000	T	0.62356	0.2421	L	0.49350	1.555	0.36987	D	0.894571	B;B	0.22146	0.065;0.065	B;B	0.16289	0.015;0.015	T	0.60969	-0.7157	10	0.26408	T	0.33	.	11.978	0.53103	0.0662:0.1208:0.813:0.0	.	2192;2192	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	2192	ENSP00000298910:E2192Q	ENSP00000298910:E2192Q	E	+	1	0	LRRK2	39031800	1.000000	0.71417	0.986000	0.45419	0.892000	0.51952	2.632000	0.46511	2.882000	0.98803	0.655000	0.94253	GAG	LRRK2	-	superfamily_WD40_repeat_dom		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40745533	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40745533	G	C	40745533	3	2	43	1	0	0	0	0	1	0	0	0	9056	1291	45	1	6748	1	LRRK2	12	40745533	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		40745533	93106362	53	5944										
LIN7A	8825	genome.wustl.edu	37	chr12	81331463	81331463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	accactgtcaatgtcgccatGtctgccgtgggagccgaagt	12	12	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr12:81331463G>C	ENST00000552864.1	-	1	241	c.39C>G	c.(37-39)gaC>gaG	p.D13E	MIR618_ENST00000385287.1_RNA	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	13					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATGTCGCCATGTCTGCCGTGG	0.642																																																	0													27	25	26					12																	81331463		2201	4298	6499	SO:0001583	missense	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.39C>G	12.37:g.81331463G>C	ENSP00000447488:p.Asp13Glu		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.D13E	ENST00000552864.1	37	c.39	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275493	0.59649	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.26373	2.28;1.74	3.29	3.29	0.37713	.	0.324023	0.20966	U	0.082471	T	0.18087	0.0434	N	0.19112	0.55	0.34474	D	0.70317	B	0.02656	0.0	B	0.01281	0.0	T	0.23013	-1.0200	10	0.87932	D	0	-8.9127	13.8403	0.63435	0.0:0.0:1.0:0.0	.	13	O14910	LIN7A_HUMAN	E	13;7	ENSP00000447488:D13E;ENSP00000448975:D7E	ENSP00000261203:D13E	D	-	3	2	LIN7A	79855594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.039000	0.70972	1.845000	0.53610	0.400000	0.26472	GAC	LIN7A	-	NULL		0.642	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	G			81331463	-1	no_errors	ENST00000552864	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81331463	G	C	81331463	3	2	43	1	0	0	0	0	1	0	0	0	8831	1368	48	4	682	4	LIN7A	12	81331463	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	40585930	81331463	52520432	54	5945										
EP400	57634	genome.wustl.edu	37	chr12	132514585	132514585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gaaattgaaatctgaaggacGtcgggtgctgattttatcac	11	6	2	3	rs376569991		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr12:132514585G>A	ENST00000333577.4	+	30	5853	c.5744G>A	c.(5743-5745)cGt>cAt	p.R1915H	EP400_ENST00000332482.4_Missense_Mutation_p.R1842H|EP400_ENST00000330386.6_Missense_Mutation_p.R1798H|EP400_ENST00000389562.2_Missense_Mutation_p.R1878H|EP400_ENST00000389561.2_Missense_Mutation_p.R1879H|SNORA49_ENST00000386157.1_RNA			Q96L91	EP400_HUMAN	E1A binding protein p400	1915	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCTGAAGGACGTCGGGTGCTG	0.428																																																	0													198	184	189					12																	132514585		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5744G>A	12.37:g.132514585G>A	ENSP00000333602:p.Arg1915His		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1915H	ENST00000333577.4	37	c.5744		12	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310925	0.60414	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	N	0.03281	-0.365	0.41574	D	0.988705	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.62298	0.9;0.9;0.9	T	0.60000	-0.7348	10	0.02654	T	1	.	20.1531	0.98091	0.0:0.0:1.0:0.0	.	1879;1798;1878	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	H	1915;1879;1878;1842;1798;1879	ENSP00000333602:R1915H;ENSP00000374212:R1879H;ENSP00000374213:R1878H;ENSP00000331737:R1842H;ENSP00000330620:R1798H	ENSP00000330620:R1798H	R	+	2	0	EP400	131080538	1.000000	0.71417	0.770000	0.31555	0.986000	0.74619	5.711000	0.68400	2.752000	0.94435	0.650000	0.86243	CGT	EP400	-	pfscan_Helicase_C		0.428	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132514585	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132514585	G	A	132514585	3	1	43	1	0	0	0	0	1	0	0	0	5161	1145	40	2	5743	2	EP400	12	132514585	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	51183122	132514585	1337310	55	5946										
CRYL1	51084	genome.wustl.edu	37	chr13	20978341	20978341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ccctccactgcctcctggcaGctaagtgctccgggtcatca	9	17	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr13:20978341G>T	ENST00000298248.7	-	8	949	c.887C>A	c.(886-888)gCt>gAt	p.A296D	CRYL1_ENST00000382812.1_Missense_Mutation_p.A274D	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	296					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCTCCTGGCAGCTAAGTGCTC	0.478																																																	0													78	80	80					13																	20978341		1998	4178	6176	SO:0001583	missense	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.887C>A	13.37:g.20978341G>T	ENSP00000298248:p.Ala296Asp		A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.A296D	ENST00000298248.7	37	c.887	CCDS41871.1	13	.	.	.	.	.	.	.	.	.	.	G	7.193	0.591925	0.13812	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.70399	-0.39;-0.48	5.83	1.97	0.26223	.	0.410287	0.30252	N	0.010047	T	0.50154	0.1599	L	0.33485	1.01	0.40151	D	0.976957	B	0.13145	0.007	B	0.06405	0.002	T	0.22626	-1.0211	10	0.15952	T	0.53	-10.5426	3.8787	0.09068	0.0776:0.1321:0.4073:0.383	.	296	Q9Y2S2	CRYL1_HUMAN	D	296;274	ENSP00000298248:A296D;ENSP00000372262:A274D	ENSP00000298248:A296D	A	-	2	0	CRYL1	19876341	0.869000	0.29996	0.945000	0.38365	0.321000	0.28281	1.819000	0.39022	0.376000	0.24707	-0.310000	0.09108	GCT	CRYL1	-	NULL		0.478	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1	G	NM_015974		20978341	-1	no_errors	ENST00000298248	ensembl	human	known	70_37	missense	SNP	0.915	T	T	20978341	G	T	20978341	3	4	43	1	0	0	0	0	1	0	0	0	3925	971	34	4	76	4	CRYL1	13	20978341	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		20978341	94191537	56	5947										
RNF17	56163	genome.wustl.edu	37	chr13	25451154	25451154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gactgtgccaaattccttctCatcttatgcggtatccagct	7	12	2	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr13:25451154C>T	ENST00000255324.5	+	34	4655	c.4603C>T	c.(4603-4605)Cat>Tat	p.H1535Y	RNF17_ENST00000339524.3_Missense_Mutation_p.H545Y|RNF17_ENST00000381921.1_Missense_Mutation_p.H1493Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1535	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTCCTTCTCATCTTATGCG	0.413																																																	0													77	80	79					13																	25451154		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4603C>T	13.37:g.25451154C>T	ENSP00000255324:p.His1535Tyr		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.H1535Y	ENST00000255324.5	37	c.4603	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	7.311	0.615050	0.14129	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.09255	3.0;3.0;3.0	5.66	3.78	0.43462	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.320650	0.26680	N	0.023060	T	0.08846	0.0219	L	0.53249	1.67	0.09310	N	1	B;B;P;B	0.44090	0.012;0.008;0.826;0.015	B;B;B;B	0.31686	0.011;0.006;0.134;0.015	T	0.33420	-0.9869	10	0.62326	D	0.03	-2.253	9.3108	0.37903	0.0:0.6715:0.25:0.0785	.	1531;545;1529;1535	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	Y	1535;1493;545	ENSP00000255324:H1535Y;ENSP00000371346:H1493Y;ENSP00000344776:H545Y	ENSP00000255324:H1535Y	H	+	1	0	RNF17	24349154	0.003000	0.15002	0.567000	0.28434	0.428000	0.31595	0.852000	0.27764	2.671000	0.90904	0.555000	0.69702	CAT	RNF17	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.413	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25451154	1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.015	T	T	25451154	C	T	25451154	3	4	43	1	0	0	0	0	1	0	0	0	13491	826	29	1	4737	1	RNF17	13	25451154	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	4472813	25451154	89718724	57	5948										
PTGDR	5729	genome.wustl.edu	37	chr14	52735240	52735240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cggcggctgcagcggcacccGcgctcctgcaccagggactg	15	17	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr14:52735240G>A	ENST00000306051.2	+	1	810	c.708G>A	c.(706-708)ccG>ccA	p.P236P	PTGDR_ENST00000553372.1_Silent_p.P236P	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	236					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AGCGGCACCCGCGCTCCTGCA	0.706																																																	0													34	34	34					14																	52735240		2201	4298	6499	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.708G>A	14.37:g.52735240G>A			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.P236	ENST00000306051.2	37	c.708	CCDS9707.1	14																																																																																			PTGDR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt		0.706	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	G	NM_000953		52735240	1	no_errors	ENST00000306051	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52735240	G	A	52735240	2	1	43	1	0	0	0	0	0	0	0	1	12768	1074	38	2		2	PTGDR	14	52735240	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		52735240	54614300	58	5949										
MPP5	64398	genome.wustl.edu	37	chr14	67786976	67786976	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	acgaggagatcttaacctatGaggaaatgtcactttatcat	8	7	3	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr14:67786976G>T	ENST00000261681.4	+	12	2060	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	MPP5_ENST00000555925.1_Nonsense_Mutation_p.E433*|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	467					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CTTAACCTATGAGGAAATGTC	0.368																																																	0													94	90	91					14																	67786976		2203	4300	6503	SO:0001587	stop_gained	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1399G>T	14.37:g.67786976G>T	ENSP00000261681:p.Glu467*		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E467*	ENST00000261681.4	37	c.1399	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.722869	0.98453	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	X	467;433	.	ENSP00000261681:E467X	E	+	1	0	MPP5	66856729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.769000	0.95229	0.655000	0.94253	GAG	MPP5	-	NULL		0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67786976	1	no_errors	ENST00000261681	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67786976	G	T	67786976	4	4	43	1	0	0	0	0	0	1	0	0	9760	1291	45	3	1437	3	MPP5	14	67786976	Nonsense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	15051736	67786976	39562564	59	5950										
SPATA5L1	79029	genome.wustl.edu	37	chr15	45707786	45707787	+	Splice_Site	INS	-	-	ATTTC													0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tttttttcctaacaaaagatINSatttcgacaagcaagagcaa							TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:45707786_45707787insATTTC	ENST00000305560.6	+	5	1745_1746	c.1646_1647insATTTC	c.(1645-1650)atattt>atATTTCattt	p.-550fs	SPATA5L1_ENST00000559860.1_Splice_Site_p.-550fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1							cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TAACAAAAGATATTTCGACAAG	0.317																																																	0																																										SO:0001630	splice_region_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1645-1->ATTTC	15.37:g.45707787_45707791dupATTTC			C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.R551fs	ENST00000305560.6	37	c.1646_1647	CCDS10123.1	15																																																																																			SPATA5L1	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.317	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	-	NM_024063	Frame_Shift_Ins	45707787	1	no_errors	ENST00000305560	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.981	ATTTC	ATTTC	45707787	-	ATTTC	45707786	8	5	43	1	0	1	1	0	0	0	1	0	15042	1420	49	0	1664	0	SPATA5L1	15	45707786	Splice_Site	INS	-	TCGA-C5-A7CJ-01A-11D-A32I-09		45707786	56823606	60	5951										
C15orf33	196951	genome.wustl.edu	37	chr15	49882154	49882154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tcttttatttttttcagagtGcatgaccatttatcatcatc	4	8	4	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:49882154G>C	ENST00000299338.6	-	4	459	c.156C>G	c.(154-156)tgC>tgG	p.C52W	FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Missense_Mutation_p.C52W|FAM227B_ENST00000558594.1_Missense_Mutation_p.C52W|FAM227B_ENST00000561064.1_Missense_Mutation_p.C52W	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	52																	TTTTCAGAGTGCATGACCATT	0.308																																																	0													48	53	51					15																	49882154		2195	4284	6479	SO:0001583	missense	196951				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.156C>G	15.37:g.49882154G>C	ENSP00000299338:p.Cys52Trp		Q86WS2	Missense_Mutation	SNP	NULL	p.C52W	ENST00000299338.6	37	c.156	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495753	0.12762	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	-7.51	0.01346	.	1.946500	0.02234	N	0.065170	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B;B	0.29531	0.114;0.247	B;B	0.31946	0.138;0.138	T	0.18650	-1.0330	9	0.38643	T	0.18	-17.5525	8.6472	0.34013	0.6596:0.0:0.2228:0.1176	.	52;52	Q96M60-2;Q96M60	.;CO033_HUMAN	W	52	.	ENSP00000299338:C52W	C	-	3	2	C15orf33	47669446	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.866000	0.00723	-1.312000	0.02306	-0.914000	0.02751	TGC	FAM227B	-	NULL		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	G	NM_152647		49882154	-1	no_errors	ENST00000299338	ensembl	human	known	70_37	missense	SNP	0.000	C	C	49882154	G	C	49882154	3	2	43	1	0	0	0	0	1	0	0	0	1795	1311	46	4	1422	4	C15orf33	15	49882154	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	4174368	49882154	52649238	61	5952										
GNB5	10681	genome.wustl.edu	37	chr15	52418211	52418211	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tttggaatagatggcaacctCcctatctgcccgcaggtcat	9	12	2	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:52418211C>A	ENST00000261837.7	-	11	1008	c.943G>T	c.(943-945)Gag>Tag	p.E315*	GNB5_ENST00000358784.7_Nonsense_Mutation_p.E273*|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Nonsense_Mutation_p.E203*|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	315					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ATGGCAACCTCCCTATCTGCC	0.458																																																	0													80	70	74					15																	52418211		2195	4293	6488	SO:0001587	stop_gained	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.943G>T	15.37:g.52418211C>A	ENSP00000261837:p.Glu315*		B2RBR5|Q9HAU9|Q9UFT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.E315*	ENST00000261837.7	37	c.943	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	C	38	7.039721	0.98021	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.9208	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	315;273;113;203	.	ENSP00000261837:E315X	E	-	1	0	GNB5	50205503	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.539000	0.82063	2.894000	0.99253	0.655000	0.94253	GAG	GNB5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.458	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	C			52418211	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52418211	C	A	52418211	4	1	43	1	0	0	0	0	0	1	0	0	6540	864	30	3	256	3	GNB5	15	52418211	Nonsense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	2536057	52418211	50113181	62	5953										
LIPC	3990	genome.wustl.edu	37	chr15	58838164	58838164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tacagacatattgcccagcaCggcttcaatggtgagaatga	10	9	1	3	rs376170453		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:58838164C>T	ENST00000356113.6	+	7	1413	c.798C>T	c.(796-798)caC>caT	p.H266H	LIPC_ENST00000414170.3_Silent_p.H266H|LIPC_ENST00000433326.2_Silent_p.H205H|LIPC_ENST00000299022.5_Silent_p.H266H			P11150	LIPC_HUMAN	lipase, hepatic	266					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTGCCCAGCACGGCTTCAATG	0.542																																																	0								C		0,4384		0,0,2192	59	59	59		798	-5.4	0	15		59	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0116,0.0,0.0077		266/500	58838164	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.798C>T	15.37:g.58838164C>T			A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.H266	ENST00000356113.6	37	c.798	CCDS10166.1	15																																																																																			LIPC	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.542	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	C			58838164	1	no_errors	ENST00000299022	ensembl	human	known	70_37	silent	SNP	0.000	T	T	58838164	C	T	58838164	2	4	43	1	0	0	0	0	0	0	0	1	8841	535	19	2		2	LIPC	15	58838164	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	6419953	58838164	43693228	63	5954										
NTRK3	4916	genome.wustl.edu	37	chr15	88576179	88576179	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	atgccaatgaccacagtgtcGggcccggcatccagtgacga	12	13	0	2	rs372080536		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:88576179G>T	ENST00000360948.2	-	13	1655	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	NTRK3_ENST00000357724.2_Silent_p.P490P|NTRK3_ENST00000557856.1_Silent_p.P490P|NTRK3_ENST00000540489.2_Silent_p.P498P|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000558676.1_Silent_p.P490P|NTRK3_ENST00000542733.2_Silent_p.P400P|NTRK3_ENST00000355254.2_Silent_p.P498P|NTRK3_ENST00000317501.3_Silent_p.P498P|NTRK3_ENST00000394480.2_Silent_p.P498P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	498					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCACAGTGTCGGGCCCGGCAT	0.597			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													100	67	78					15																	88576179		2201	4299	6500	SO:0001819	synonymous_variant	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1494C>A	15.37:g.88576179G>T			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P498	ENST00000360948.2	37	c.1494	CCDS32322.1	15																																																																																			NTRK3	-	NULL		0.597	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		G			88576179	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	silent	SNP	0.007	T	T	88576179	G	T	88576179	2	4	43	1	0	0	0	0	0	0	0	1	10732	1103	39	2		2	NTRK3	15	88576179	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	29738015	88576179	13955213	64	5955										
RLBP1	6017	genome.wustl.edu	37	chr15	89760507	89760507	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	caccatctcctgcagctctcGcactgcctcctcccgggtct	7	20	3	0	rs561618945		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:89760507G>A	ENST00000268125.5	-	5	629	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	64					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TGCAGCTCTCGCACTGCCTCC	0.642																																																	0													76	75	75					15																	89760507		2200	4299	6499	SO:0001587	stop_gained	6017			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.190C>T	15.37:g.89760507G>A	ENSP00000268125:p.Arg64*		B2R667	Nonsense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R64*	ENST00000268125.5	37	c.190	CCDS32324.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.432236	0.98279	.	.	ENSG00000140522	ENST00000268125	.	.	.	4.5	2.35	0.29111	.	0.221648	0.44097	D	0.000491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-4.8864	10.822	0.46610	0.0:0.0:0.3747:0.6253	.	.	.	.	X	64	.	ENSP00000268125:R64X	R	-	1	2	RLBP1	87561511	1.000000	0.71417	0.546000	0.28166	0.703000	0.40648	4.013000	0.57138	1.050000	0.40346	0.561000	0.74099	CGA	RLBP1	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom		0.642	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLBP1	HGNC	protein_coding	OTTHUMT00000421135.1	G	NM_000326		89760507	-1	no_errors	ENST00000268125	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	89760507	G	A	89760507	4	1	43	1	0	0	0	0	0	1	0	0	13418	1095	38	2	783	2	RLBP1	15	89760507	Nonsense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	1184328	89760507	12770885	65	5956										
AXIN1	8312	genome.wustl.edu	37	chr16	348162	348162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cccatgtccacacagcggggCgggaagtggtgccaagcggg	17	12	0	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr16:348162C>T	ENST00000262320.3	-	6	1715	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	AXIN1_ENST00000354866.3_Silent_p.P448P|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	448	Interaction with CTNNB1. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACAGCGGGGCGGGAAGTGGT	0.672											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													8	6	7					16																	348162		2118	4165	6283	SO:0001819	synonymous_variant	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1344G>A	16.37:g.348162C>T		587	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P448	ENST00000262320.3	37	c.1344	CCDS10405.1	16																																																																																			AXIN1	-	NULL		0.672	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	C			348162	-1	no_errors	ENST00000262320	ensembl	human	known	70_37	silent	SNP	0.018	T	T	348162	C	T	348162	2	4	43	1	0	0	0	0	0	0	0	1	1237	755	27	2		2	AXIN1	16	348162	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		348162	90006591	66	5957										
TRAF7	84231	genome.wustl.edu	37	chr16	2223241	2223241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	acctggagacttgccgcttcGagggcctgaaggagtttctg	14	10	1	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr16:2223241G>A	ENST00000326181.6	+	10	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	285					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TTGCCGCTTCGAGGGCCTGAA	0.637																																																	0													74	57	62					16																	2223241		2197	4300	6497	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.853G>A	16.37:g.2223241G>A	ENSP00000318944:p.Glu285Lys		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E285K	ENST00000326181.6	37	c.853	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739757	0.49045	.	.	ENSG00000131653	ENST00000326181	T	0.26223	1.75	4.6	3.65	0.41850	Zinc finger, TRAF-type (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.53988	0.739	T	0.05007	-1.0912	10	0.72032	D	0.01	-40.1316	11.5837	0.50906	0.0865:0.0:0.9135:0.0	.	285	Q6Q0C0	TRAF7_HUMAN	K	285	ENSP00000318944:E285K	ENSP00000318944:E285K	E	+	1	0	TRAF7	2163242	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	9.551000	0.98112	1.140000	0.42260	0.561000	0.74099	GAG	TRAF7	-	superfamily_TRAF-like,pfscan_Znf_TRAF		0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	G	NM_032271		2223241	1	no_errors	ENST00000326181	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2223241	G	A	2223241	3	1	43	1	0	0	0	0	1	0	0	0	16477	1059	37	1	887	1	TRAF7	16	2223241	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	1875079	2223241	88131512	67	5958										
SLFN13	146857	genome.wustl.edu	37	chr17	33772595	33772595	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tcttggtctctctgagttttCtgtagcttttttctgttttc	7	8	5	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:33772595C>A	ENST00000285013.6	-	3	380	c.105G>T	c.(103-105)caG>caT	p.Q35H	SLFN13_ENST00000526861.1_Missense_Mutation_p.Q35H|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.Q35H|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.Q35H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	35						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTGAGTTTTCTGTAGCTTTT	0.493																																																	0													94	93	94					17																	33772595		2203	4300	6503	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.105G>T	17.37:g.33772595C>A	ENSP00000285013:p.Gln35His		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.Q35H	ENST00000285013.6	37	c.105	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252582	0.39797	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635;ENST00000524511	T;T;T;T	0.23348	4.51;4.51;4.51;1.91	3.08	-1.82	0.07857	.	1.132980	0.06974	U	0.818571	T	0.32010	0.0815	M	0.63428	1.95	0.09310	N	1	D	0.56968	0.978	P	0.51615	0.675	T	0.30060	-0.9991	10	0.56958	D	0.05	.	3.9584	0.09399	0.0:0.2974:0.4254:0.2772	.	35	Q68D06	SLN13_HUMAN	H	35	ENSP00000285013:Q35H;ENSP00000434439:Q35H;ENSP00000444016:Q35H;ENSP00000433181:Q35H	ENSP00000285013:Q35H	Q	-	3	2	SLFN13	30796708	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-1.970000	0.01504	-0.180000	0.10637	0.205000	0.17691	CAG	SLFN13	-	NULL		0.493	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	C	NM_144682		33772595	-1	no_errors	ENST00000285013	ensembl	human	known	70_37	missense	SNP	0.000	A	A	33772595	C	A	33772595	3	1	43	1	0	0	0	0	1	0	0	0	14766	912	32	3	2604	3	SLFN13	17	33772595	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		33772595	47422615	68	5959										
GPR179	440435	genome.wustl.edu	37	chr17	36482459	36482459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gaagactgagactcagcttcCtggagacttggctctggggc	14	10	2	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:36482459C>T	ENST00000342292.4	-	11	7013	c.6993G>A	c.(6991-6993)caG>caA	p.Q2331Q	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2331					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTCAGCTTCCTGGAGACTTG	0.522																																																	0													145	136	139					17																	36482459		1926	4124	6050	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6993G>A	17.37:g.36482459C>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.Q2331	ENST00000342292.4	37	c.6993	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.522	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36482459	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.236	T	T	36482459	C	T	36482459	2	4	43	1	0	0	0	0	0	0	0	1	6693	680	24	4		4	GPR179	17	36482459	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	2709864	36482459	44712751	69	5960										
STXBP4	252983	genome.wustl.edu	37	chr17	53077107	53077107	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ggagaatatggacctcaagcCtcaacattaagtcttttttc	7	9	3	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:53077107C>G	ENST00000376352.2	+	6	609	c.402C>G	c.(400-402)gcC>gcG	p.A134A	STXBP4_ENST00000434978.2_Silent_p.A134A|STXBP4_ENST00000299341.4_Silent_p.A59A|STXBP4_ENST00000398391.2_Silent_p.A59A|STXBP4_ENST00000405898.1_Silent_p.A134A	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	134					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCTCAAGCCTCAACATTAA	0.373																																																	0													94	89	91					17																	53077107		2203	4300	6503	SO:0001819	synonymous_variant	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.402C>G	17.37:g.53077107C>G			Q8IVZ5	Silent	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A134	ENST00000376352.2	37	c.402	CCDS11584.2	17																																																																																			STXBP4	-	NULL		0.373	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	C	NM_178509		53077107	1	no_errors	ENST00000376352	ensembl	human	known	70_37	silent	SNP	0.055	G	G	53077107	C	G	53077107	2	3	43	1	0	0	0	0	0	0	0	1	15385	668	24	4		4	STXBP4	17	53077107	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	16594648	53077107	28118103	70	5961										
TBX4	9496	genome.wustl.edu	37	chr17	59533881	59533881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gataagggcctgtccgagagCgaggaggccttccgggcccc	16	13	0	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:59533881C>T	ENST00000240335.1	+	1	75	c.30C>T	c.(28-30)agC>agT	p.S10S	TBX4_ENST00000393853.4_Silent_p.S10S	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	10					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTCCGAGAGCGAGGAGGCCT	0.736																																																	0													12	11	11					17																	59533881		2171	4272	6443	SO:0001819	synonymous_variant	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.30C>T	17.37:g.59533881C>T			A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.S10	ENST00000240335.1	37	c.30	CCDS11629.1	17																																																																																			TBX4	-	NULL		0.736	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	C	NM_018488		59533881	1	no_errors	ENST00000393853	ensembl	human	known	70_37	silent	SNP	0.996	T	T	59533881	C	T	59533881	2	4	43	1	0	0	0	0	0	0	0	1	15690	767	27	2		2	TBX4	17	59533881	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	6456774	59533881	21661329	71	5962										
PRPSAP1	5635	genome.wustl.edu	37	chr17	74324917	74324917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gaatgacggccaaacccagaCgcagtctctccgcataggac	10	14	1	2	rs375906385		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:74324917C>T	ENST00000446526.3	-	7	1107	c.662G>A	c.(661-663)cGt>cAt	p.R221H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R118H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	192					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAACCCAGACGCAGTCTCTC	0.527													C|||	1	0.000199681	0	0	5008	,	,		17126	0.001		0	False		,,,				2504	0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	71	80		662	5.7	1	17		80	0,8600		0,0,4300	no	missense	PRPSAP1	NM_002766.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	221/386	74324917	1,13005	2203	4300	6503	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.662G>A	17.37:g.74324917C>T	ENSP00000414624:p.Arg221His		B2R6M4|Q96H06	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.R221H	ENST00000446526.3	37	c.662	CCDS11743.2	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976482	0.92982	2.27E-4	0.0	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.73	5.73	0.89815	.	0.053679	0.85682	D	0.000000	T	0.81987	0.4939	L	0.39467	1.215	0.80722	D	1	D;P	0.89917	1.0;0.839	D;B	0.69479	0.964;0.233	T	0.80542	-0.1336	10	0.46703	T	0.11	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	192;221	Q14558;Q14558-2	KPRA_HUMAN;.	H	221;118;118;118	ENSP00000414624:R221H;ENSP00000314973:R118H;ENSP00000392838:R118H;ENSP00000387494:R118H	ENSP00000314973:R118H	R	-	2	0	PRPSAP1	71836512	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	CGT	PRPSAP1	-	tigrfam_Rib-P_diPkinase		0.527	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP1	HGNC	protein_coding	OTTHUMT00000342480.2	C	NM_002766		74324917	-1	no_errors	ENST00000446526	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74324917	C	T	74324917	3	4	43	1	0	0	0	0	1	0	0	0	12608	536	19	2	511	2	PRPSAP1	17	74324917	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	14791036	74324917	6870293	72	5963										
GPS1	2873	genome.wustl.edu	37	chr17	80014794	80014794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tgggcaaggagttccagcgcCgcgccaaggccatgatgctg	15	12	0	1	rs375649658		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:80014794C>A	ENST00000306823.6	+	12	1368	c.1345C>A	c.(1345-1347)Cgc>Agc	p.R449S	GPS1_ENST00000392358.2_Missense_Mutation_p.R485S|GPS1_ENST00000578552.1_Missense_Mutation_p.R445S|GPS1_ENST00000355130.2_Missense_Mutation_p.R485S|GPS1_ENST00000320548.4_Missense_Mutation_p.R429S			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	449					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTTCCAGCGCCGCGCCAAGGC	0.642																																																	0													52	48	50					17																	80014794		2201	4300	6501	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1345C>A	17.37:g.80014794C>A	ENSP00000302873:p.Arg449Ser		Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.R485S	ENST00000306823.6	37	c.1453	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697233	0.48202	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	L	0.54323	1.7	0.80722	D	1	B;D;B;B;D;D	0.67145	0.273;0.994;0.434;0.393;0.996;0.996	B;P;B;B;P;D	0.65233	0.082;0.858;0.191;0.17;0.892;0.933	T	0.67688	-0.5606	9	0.19147	T	0.46	-18.3161	16.5325	0.84365	0.0:1.0:0.0:0.0	.	441;484;434;445;449;485	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	S	485;435;449;485	.	ENSP00000302873:R449S	R	+	1	0	GPS1	77608083	0.998000	0.40836	0.374000	0.26016	0.969000	0.65631	3.404000	0.52623	2.129000	0.65627	0.457000	0.33378	CGC	GPS1	-	NULL		0.642	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	C	NM_212492		80014794	1	no_errors	ENST00000355130	ensembl	human	known	70_37	missense	SNP	0.999	A	A	80014794	C	A	80014794	3	1	43	1	0	0	0	0	1	0	0	0	6752	652	23	2	1548	2	GPS1	17	80014794	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	5689877	80014794	1180416	73	5964										
RNF125	54941	genome.wustl.edu	37	chr18	29648335	29648335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cttgaatatgtgaatcactcGaacaccacataattttatta	4	8	1	2	rs374540528		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr18:29648335G>A	ENST00000217740.3	+	6	1179	c.687G>A	c.(685-687)tcG>tcA	p.S229S	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	229					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGAATCACTCGAACACCACAT	0.348																																																	0								G		0,4404		0,0,2202	55	57	56		687	-10.9	0.2	18		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF125	NM_017831.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		229/233	29648335	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.687G>A	18.37:g.29648335G>A			Q9NX39	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S229	ENST00000217740.3	37	c.687	CCDS11902.1	18																																																																																			RNF125	-	NULL		0.348	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29648335	1	no_errors	ENST00000217740	ensembl	human	known	70_37	silent	SNP	0.324	A	A	29648335	G	A	29648335	2	1	43	1	0	0	0	0	0	0	0	1	13464	1045	37	1		1	RNF125	18	29648335	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		29648335	48428913	74	5965										
CREB3L3	84699	genome.wustl.edu	37	chr19	4157289	4157289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	aagcctctgtgaccatagacCtgggtgagtcctgctgtgtc	12	11	1	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:4157289C>A	ENST00000078445.2	+	3	601	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	CREB3L3_ENST00000602257.1_Missense_Mutation_p.L152M|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L151M|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L152M|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	152					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCATAGACCTGGGTGAGTC	0.592																																																	0													81	83	82					19																	4157289		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.454C>A	19.37:g.4157289C>A	ENSP00000078445:p.Leu152Met		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L152M	ENST00000078445.2	37	c.454	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834340	0.32421	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.85411	-1.98	5.13	1.65	0.23941	.	0.349495	0.27306	N	0.019961	D	0.88555	0.6468	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.67145	0.996;0.989;0.993;0.989	D;P;P;P	0.67725	0.953;0.768;0.858;0.726	D	0.84372	0.0544	10	0.46703	T	0.11	-9.3093	4.8436	0.13503	0.0:0.6203:0.1741:0.2056	.	152;152;151;152	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	M	152	ENSP00000078445:L152M	ENSP00000078445:L152M	L	+	1	2	CREB3L3	4108289	0.980000	0.34600	1.000000	0.80357	0.216000	0.24613	-0.059000	0.11731	0.144000	0.18951	-0.450000	0.05554	CTG	CREB3L3	-	NULL		0.592	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	C	NM_032607		4157289	1	no_errors	ENST00000078445	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4157289	C	A	4157289	3	1	43	1	0	0	0	0	1	0	0	0	3863	680	24	4	464	4	CREB3L3	19	4157289	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		4157289	54971694	75	5966										
TIMM44	10469	genome.wustl.edu	37	chr19	7992965	7992965	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cactgcgaggtgcttacgtcGacgttgtcaatgtctaggat	12	9	2	0	rs369918101		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:7992965G>A	ENST00000270538.3	-	11	1393	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	TIMM44_ENST00000598968.1_5'UTR|CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	375					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGCTTACGTCGACGTTGTCAA	0.642																																																	0													126	91	103					19																	7992965		2203	4300	6503	SO:0001819	synonymous_variant	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1125C>T	19.37:g.7992965G>A			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.V375	ENST00000270538.3	37	c.1125	CCDS12192.1	19																																																																																			TIMM44	-	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44		0.642	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	G			7992965	-1	no_errors	ENST00000270538	ensembl	human	known	70_37	silent	SNP	0.002	A	A	7992965	G	A	7992965	2	1	43	1	0	0	0	0	0	0	0	1	15942	1045	37	1		1	TIMM44	19	7992965	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	3835676	7992965	51136018	76	5967										
MLL4	9757	genome.wustl.edu	37	chr19	36227608	36227608	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	caggtgaggcttcgagctctGaggaagagcctccatcccca	12	13	1	3			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:36227608G>A	ENST00000222270.7	+	31	7177	c.7177G>A	c.(7177-7179)Gag>Aag	p.E2393K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E2393K	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2393					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCGAGCTCTGAGGAAGAGCC	0.582																																																	0													48	52	51					19																	36227608		1999	4163	6162	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7177G>A	19.37:g.36227608G>A	ENSP00000222270:p.Glu2393Lys		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2393K	ENST00000222270.7	37	c.7177	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656050	0.67586	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84070	-1.8;-1.8	5.84	5.84	0.93424	.	0.000000	0.43416	D	0.000568	D	0.83482	0.5264	L	0.40543	1.245	0.50813	D	0.99989	P	0.52842	0.956	P	0.49999	0.628	T	0.83192	-0.0083	10	0.45353	T	0.12	.	18.9181	0.92515	0.0:0.0:1.0:0.0	.	2393	Q9UMN6	MLL4_HUMAN	K	2393	ENSP00000222270:E2393K;ENSP00000398837:E2393K	ENSP00000222270:E2393K	E	+	1	0	AD000671.1	40919448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.964000	0.87933	2.755000	0.94549	0.655000	0.94253	GAG	WBP7	-	pirsf_MeTrfase_trithorax		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36227608	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36227608	G	A	36227608	3	1	43	1	0	0	0	0	1	0	0	0	9646	1291	45	1	7299	1	MLL4	19	36227608	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	28234643	36227608	22901375	77	5968										
KLK13	26085	genome.wustl.edu	37	chr19	51563191	51563191	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	atgtagcctgtgagctggacCggggactgcagctccagaag	15	10	0	2	rs369313164		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:51563191C>A	ENST00000595793.1	-	3	441	c.399G>T	c.(397-399)ccG>ccT	p.P133P	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Silent_p.P133P	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGAGCTGGACCGGGGACTGCA	0.607																																																	0													109	98	102					19																	51563191		2203	4300	6503	SO:0001819	synonymous_variant	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.399G>T	19.37:g.51563191C>A			A7UNK6|Q86VI8|Q9Y433	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P133	ENST00000595793.1	37	c.399	CCDS12822.1	19																																																																																			KLK13	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.607	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	HGNC	protein_coding	OTTHUMT00000464298.2	C	NM_015596		51563191	-1	no_errors	ENST00000595793	ensembl	human	known	70_37	silent	SNP	0.013	A	A	51563191	C	A	51563191	2	1	43	1	0	0	0	0	0	0	0	1	8421	639	23	2		2	KLK13	19	51563191	Silent	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	15335583	51563191	7565792	78	5969										
ID1	3397	genome.wustl.edu	37	chr20	30193562	30193562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cccgggggccgagggctgccGgtccgggctccgctcagcac	17	17	1	0			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr20:30193562G>T	ENST00000376112.3	+	1	477	c.372G>T	c.(370-372)ccG>ccT	p.P124P	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Silent_p.P124P	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	124					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GAGGGCTGCCGGTCCGGGCTC	0.617																																					NSCLC(123;1618 1779 21803 28680 33854)												0													12	16	14					20																	30193562		2200	4296	6496	SO:0001819	synonymous_variant	3397				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"Basic helix-loop-helix proteins"	5360	protein-coding gene	gene with protein product	"DNA-binding protein inhibitor ID-1"	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.372G>T	20.37:g.30193562G>T			A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P124	ENST00000376112.3	37	c.372	CCDS13185.1	20																																																																																			ID1	-	superfamily_HLH_dom		0.617	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID1	HGNC	protein_coding	OTTHUMT00000078550.1	G	NM_002165		30193562	1	no_errors	ENST00000376112	ensembl	human	known	70_37	silent	SNP	0.002	T	T	30193562	G	T	30193562	2	4	43	1	0	0	0	0	0	0	0	1	7509	1103	39	2		2	ID1	20	30193562	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		30193562	32831958	79	5970										
DOPEY2	9980	genome.wustl.edu	37	chr21	37618844	37618844	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	catccggcctgggtgagcttGgtcacgcattccttgcccta	11	14	1	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr21:37618844G>C	ENST00000399151.3	+	19	4651	c.4566G>C	c.(4564-4566)ttG>ttC	p.L1522F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1522					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGTGAGCTTGGTCACGCATT	0.592																																																	0													72	68	69					21																	37618844		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4566G>C	21.37:g.37618844G>C	ENSP00000382104:p.Leu1522Phe		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.L1522F	ENST00000399151.3	37	c.4566	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718560	0.68844	.	.	ENSG00000142197	ENST00000399151	T	0.42131	0.98	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.62266	1.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55250	-0.8170	10	0.22109	T	0.4	.	12.844	0.57819	0.1356:0.0:0.8644:0.0	.	1522;1522	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	F	1522	ENSP00000382104:L1522F	ENSP00000382104:L1522F	L	+	3	2	DOPEY2	36540714	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.505000	0.53356	1.480000	0.48289	0.655000	0.94253	TTG	DOPEY2	-	NULL		0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37618844	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37618844	G	C	37618844	3	2	43	1	0	0	0	0	1	0	0	0	4718	1339	47	4	4636	4	DOPEY2	21	37618844	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		37618844	10511051	80	5971										
CECR2	27443	genome.wustl.edu	37	chr22	18022454	18022454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	caggctcttcggggggtgcaGggaggggactccatgatgga	19	8	1	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:18022454G>T	ENST00000400585.2	+	16	2571	c.2133G>T	c.(2131-2133)caG>caT	p.Q711H	CECR2_ENST00000400573.5_Missense_Mutation_p.Q852H|CECR2_ENST00000262608.8_Missense_Mutation_p.Q853H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	894					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGGGGTGCAGGGAGGGGACT	0.642																																																	0													49	55	53					22																	18022454		2013	4173	6186	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2133G>T	22.37:g.18022454G>T	ENSP00000383428:p.Gln711His		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q852H	ENST00000400585.2	37	c.2556		22	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642872	0.29246	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.29397	1.7;1.69;1.57	5.11	-5.36	0.02689	.	0.124101	0.36167	N	0.002746	T	0.22936	0.0554	L	0.60455	1.87	0.18873	N	0.999984	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.08055	0.002;0.003;0.001	T	0.17868	-1.0355	10	0.62326	D	0.03	-3.3879	8.6996	0.34318	0.6405:0.0:0.2582:0.1013	.	894;711;852	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	H	711;852;853	ENSP00000383428:Q711H;ENSP00000383417:Q852H;ENSP00000262608:Q853H	ENSP00000262608:Q853H	Q	+	3	2	CECR2	16402454	0.711000	0.27906	0.002000	0.10522	0.895000	0.52256	-0.052000	0.11865	-0.893000	0.03930	0.561000	0.74099	CAG	CECR2	-	NULL		0.642	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18022454	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	0.025	T	T	18022454	G	T	18022454	3	4	43	1	0	0	0	0	1	0	0	0	3211	991	35	4	2616	4	CECR2	22	18022454	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09		18022454	33282112	81	5972										
TSSK2	23617	genome.wustl.edu	37	chr22	19119974	19119974	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	atctccggagctgaggtgggGaaagcaagcacctagcatga	14	9	1	2			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:19119974G>T	ENST00000399635.2	+	1	1654	c.1062G>T	c.(1060-1062)ggG>ggT	p.G354G	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	354					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTGAGGTGGGGAAAGCAAGCA	0.617																																																	0													44	46	45					22																	19119974		2180	4267	6447	SO:0001819	synonymous_variant	23617			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.1062G>T	22.37:g.19119974G>T			Q8IY55	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G354	ENST00000399635.2	37	c.1062	CCDS13755.1	22																																																																																			TSSK2	-	NULL		0.617	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1	G			19119974	1	no_errors	ENST00000399635	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19119974	G	T	19119974	2	4	43	1	0	0	0	0	0	0	0	1	16700	1161	41	3		3	TSSK2	22	19119974	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	1097520	19119974	32184592	82	5973										
CLTCL1	8218	genome.wustl.edu	37	chr22	19210232	19210232	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	gcacgtagatctcaatgtacCtctgcaggttgttgcggtat	11	9	2	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:19210232C>G	ENST00000263200.10	-	15	2465	c.2393G>C	c.(2392-2394)aGg>aCg	p.R798T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R798T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R798T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	798	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCAATGTACCTCTGCAGGTT	0.552			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													91	97	95					22																	19210232		2066	4201	6267	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2393G>C	22.37:g.19210232C>G	ENSP00000445677:p.Arg798Thr		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.R798T	ENST00000263200.10	37	c.2393	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715336	0.30413	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26373	1.74;1.74;1.74	3.89	2.84	0.33178	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.061433	0.64402	D	0.000006	T	0.19087	0.0458	L	0.31476	0.935	0.32861	D	0.508005	B;B	0.25312	0.101;0.123	B;B	0.31686	0.053;0.134	T	0.15694	-1.0428	10	0.46703	T	0.11	-15.1631	8.4031	0.32599	0.0:0.0981:0.0:0.9019	.	798;798	P53675-2;P53675	.;CLH2_HUMAN	T	798	ENSP00000439662:R798T;ENSP00000445677:R798T;ENSP00000441158:R798T	ENSP00000445677:R798T	R	-	2	0	CLTCL1	17590232	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	5.423000	0.66458	0.566000	0.29273	-0.379000	0.06801	AGG	CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19210232	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19210232	C	G	19210232	3	3	43	1	0	0	0	0	1	0	0	0	3572	681	24	4	2601	4	CLTCL1	22	19210232	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09	90258	19210232	32094334	83	5974										
INPP5J	27124	genome.wustl.edu	37	chr22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	cctagggtaacaagggtggcGtgagcgtgcgcctggcggcc	18	11	0	1	rs529365616		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:31523358G>A	ENST00000331075.5	+	6	1676	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_ENST00000405300.1_Missense_Mutation_p.V176M|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.V176M|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.V175M|INPP5J_ENST00000412277.2_Missense_Mutation_p.V476M	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	543	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		14720	0		0	False		,,,				2504	0																0													37	40	39					22																	31523358		2150	4250	6400	SO:0001583	missense	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1627G>A	22.37:g.31523358G>A	ENSP00000333262:p.Val543Met		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.V543M	ENST00000331075.5	37	c.1627		22	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987729	0.93106	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	4.77	4.77	0.60923	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.98664	0.9552	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99809	1.1040	10	0.87932	D	0	.	18.2124	0.89874	0.0:0.0:1.0:0.0	.	543;175	Q15735;Q15735-3	PI5PA_HUMAN;.	M	543;476;176;176;175	ENSP00000333262:V543M;ENSP00000392924:V476M;ENSP00000383150:V176M;ENSP00000384596:V176M;ENSP00000384534:V175M	ENSP00000333262:V543M	V	+	1	0	INPP5J	29853358	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.613000	0.82986	2.363000	0.80096	0.655000	0.94253	GTG	INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.632	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	G	NM_001002837		31523358	1	no_errors	ENST00000331075	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31523358	G	A	31523358	3	1	43	1	0	0	0	0	1	0	0	0	7779	1145	40	2	545	2	INPP5J	22	31523358	Missense_Mutation	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	12313126	31523358	19781208	84	5975										
ZC3H7B	23264	genome.wustl.edu	37	chr22	41716682	41716682	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	ctgatggagaggcagaaacgGaaggcggacatcgagaaagg	17	6	0	4			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:41716682G>A	ENST00000352645.4	+	2	275	c.18G>A	c.(16-18)cgG>cgA	p.R6R	ZC3H7B_ENST00000351589.4_Silent_p.R6R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	6					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGCAGAAACGGAAGGCGGACA	0.602																																																	0													156	121	133					22																	41716682		2203	4300	6503	SO:0001819	synonymous_variant	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.18G>A	22.37:g.41716682G>A			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R6	ENST00000352645.4	37	c.18	CCDS14013.1	22																																																																																			ZC3H7B	-	NULL		0.602	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	G	NM_017590		41716682	1	no_errors	ENST00000351589	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41716682	G	A	41716682	2	1	43	1	0	0	0	0	0	0	0	1	17603	1161	41	1		1	ZC3H7B	22	41716682	Silent	SNP	G	TCGA-C5-A7CJ-01A-11D-A32I-09	10193324	41716682	9587884	85	5976										
WNK3	65267	genome.wustl.edu	37	chrX	54263681	54263681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.164705882352941	14	0.0140407520676972	1.9766590389016	2.41434782608696	1.88353376503238	0.0113422066555856	0.0458414185663251	7	tcctgtggctgaagtttcttCaaattccttttctggggtca	9	9	4	1			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chrX:54263681C>T	ENST00000375159.2	-	19	4317	c.4318G>A	c.(4318-4320)Gaa>Aaa	p.E1440K	WNK3_ENST00000354646.2_Missense_Mutation_p.E1440K|WNK3_ENST00000375169.3_Missense_Mutation_p.E1393K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1440					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAAGTTTCTTCAAATTCCTTT	0.423																																																	0													74	61	65					X																	54263681		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4318G>A	X.37:g.54263681C>T	ENSP00000364301:p.Glu1440Lys		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1440K	ENST00000375159.2	37	c.4318	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418452	0.42918	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72505	-0.66;-0.63;-0.63	4.32	4.32	0.51571	.	0.402167	0.21012	N	0.081662	T	0.54870	0.1885	N	0.24115	0.695	0.30139	N	0.804082	P;P	0.39480	0.675;0.546	B;B	0.37888	0.26;0.133	T	0.52419	-0.8578	10	0.10377	T	0.69	-7.6441	15.4324	0.75112	0.0:1.0:0.0:0.0	.	1393;1440	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1393;1440;1440	ENSP00000364312:E1393K;ENSP00000346667:E1440K;ENSP00000364301:E1440K	ENSP00000346667:E1440K	E	-	1	0	WNK3	54280406	1.000000	0.71417	0.943000	0.38184	0.934000	0.57294	4.195000	0.58400	2.084000	0.62774	0.600000	0.82982	GAA	WNK3	-	NULL		0.423	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	C	NM_020922		54263681	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54263681	C	T	54263681	3	4	43	1	0	0	0	0	1	0	0	0	17410	835	29	1	1104	1	WNK3	23	54263681	Missense_Mutation	SNP	C	TCGA-C5-A7CJ-01A-11D-A32I-09		54263681	101006879	86	5977										
AJAP1	55966	genome.wustl.edu	37	chr1	4834486	4834486	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccatttttctgttcaccgcaGaccctcctcttctgatcggc	6	16	4	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:4834486G>A	ENST00000378191.4	+	5	1544		c.e5-1		AJAP1_ENST00000378190.3_Splice_Site	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1						cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GTTCACCGCAGACCCTCCTCT	0.527																																																	0													191	172	178					1																	4834486		2203	4300	6503	SO:0001630	splice_region_variant	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1164-1G>A	1.37:g.4834486G>A			Q9Y229	Splice_Site	SNP	-	e5-1	ENST00000378191.4	37	c.1164-1	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921515	0.33908	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4418	0.87567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AJAP1	4734346	1.000000	0.71417	0.870000	0.34147	0.016000	0.09150	9.124000	0.94394	2.347000	0.79759	0.655000	0.94253	.	AJAP1	-	-		0.527	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	G	NM_018836	Intron	4834486	1	no_errors	ENST00000378190	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	4834486	G	A	4834486	5	1	44	1	0	0	0	0	0	0	1	0	438	956	33	1	1181	1	AJAP1	1	4834486	Splice_Site	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		4834486	244416135	1	5978										
TAS1R2	80834	genome.wustl.edu	37	chr1	19180891	19180891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgtcgcactcctggttgcagGtatagctctggctggtcctg	13	11	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:19180891G>T	ENST00000375371.3	-	3	1094	c.1073C>A	c.(1072-1074)aCc>aAc	p.T358N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	358					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTGGTTGCAGGTATAGCTCTG	0.622																																																	0													111	100	104					1																	19180891		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1073C>A	1.37:g.19180891G>T	ENSP00000364520:p.Thr358Asn		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.T358N	ENST00000375371.3	37	c.1073	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987858	0.18966	.	.	ENSG00000179002	ENST00000375371	D	0.86097	-2.07	4.67	3.75	0.43078	Extracellular ligand-binding receptor (1);	0.177250	0.26847	N	0.022198	T	0.80138	0.4568	L	0.53249	1.67	0.33525	D	0.59287	B	0.24258	0.1	B	0.28916	0.096	T	0.76724	-0.2854	10	0.16420	T	0.52	.	10.0195	0.42035	0.0:0.0:0.7986:0.2014	.	358	Q8TE23	TS1R2_HUMAN	N	358	ENSP00000364520:T358N	ENSP00000364520:T358N	T	-	2	0	TAS1R2	19053478	0.985000	0.35326	0.978000	0.43139	0.187000	0.23431	0.683000	0.25349	1.181000	0.42912	0.462000	0.41574	ACC	TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19180891	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.995	T	T	19180891	G	T	19180891	3	4	44	1	0	0	0	0	1	0	0	0	15593	1261	44	4	1462	4	TAS1R2	1	19180891	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	14346405	19180891	230069730	2	5979										
ZCCHC17	51538	genome.wustl.edu	37	chr1	31836882	31836882	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	taaaattttcttttcaggagAagaagaaaaagaaacataga	7	3	2	5			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:31836882A>T	ENST00000373714.1	+	8	829	c.568A>T	c.(568-570)Aag>Tag	p.K190*	FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000344147.5_Nonsense_Mutation_p.K190*|ZCCHC17_ENST00000422613.2_Nonsense_Mutation_p.K192*|ZCCHC17_ENST00000546109.1_Nonsense_Mutation_p.K182*	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	190	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TTTTCAGGAGAAGAAGAAAAA	0.393																																																	0													53	57	56					1																	31836882		2203	4300	6503	SO:0001587	stop_gained	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.568A>T	1.37:g.31836882A>T	ENSP00000362819:p.Lys190*		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Nonsense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.K192*	ENST00000373714.1	37	c.574	CCDS341.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472891	0.84640	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.64	4.52	0.55395	.	0.091246	0.85682	D	0.000000	.	.	.	.	.	.	0.44012	D	0.996722	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2352	0.37461	0.9188:0.0:0.0812:0.0	.	.	.	.	X	190;190;182;192	.	ENSP00000343557:K190X	K	+	1	0	ZCCHC17	31609469	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.189000	0.65098	1.160000	0.42584	0.528000	0.53228	AAG	ZCCHC17	-	NULL		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC17	HGNC	protein_coding	OTTHUMT00000010665.1	A	NM_016505		31836882	1	no_errors	ENST00000422613	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	31836882	A	T	31836882	4	4	44	1	0	0	0	0	0	1	0	0	17615	247	9	5	594	5	ZCCHC17	1	31836882	Nonsense_Mutation	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	12655991	31836882	217413739	3	5980										
TMEM39B	55116	genome.wustl.edu	37	chr1	32541383	32541383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caacatctacaagacagtgtGgtggtatccaccttcccacc	7	14	1	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:32541383G>T	ENST00000336294.5	+	3	457	c.311G>T	c.(310-312)tGg>tTg	p.W104L	RP11-277A4.4_ENST00000366152.3_RNA|TMEM39B_ENST00000456834.2_Missense_Mutation_p.W104L|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_5'UTR|TMEM39B_ENST00000427288.1_5'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	104						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGACAGTGTGGTGGTATCCA	0.537																																																	0													71	54	59					1																	32541383		692	1591	2283	SO:0001583	missense	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.311G>T	1.37:g.32541383G>T	ENSP00000338165:p.Trp104Leu		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.W104L	ENST00000336294.5	37	c.311	CCDS351.2	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738367	0.89573	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000456834	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86313	0.1687	9	0.87932	D	0	-9.3944	18.7717	0.91894	0.0:0.0:1.0:0.0	.	104	Q9GZU3	TM39B_HUMAN	L	104	.	ENSP00000338165:W104L	W	+	2	0	TMEM39B	32313970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.385000	0.97223	2.511000	0.84671	0.555000	0.69702	TGG	TMEM39B	-	pfam_Uncharacterised_TMEM39		0.537	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39B	HGNC	protein_coding	OTTHUMT00000011489.2	G	NM_018056		32541383	1	no_errors	ENST00000336294	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32541383	G	T	32541383	3	4	44	1	0	0	0	0	1	0	0	0	16192	1357	47	4	321	4	TMEM39B	1	32541383	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	704501	32541383	216709238	4	5981										
CDC7	8317	genome.wustl.edu	37	chr1	91989963	91989963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cagcagaagaagctttgttgCatccattttttaaagatatg	8	6	0	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:91989963C>T	ENST00000428239.1	+	12	1955	c.1696C>T	c.(1696-1698)Cat>Tat	p.H566Y	CDC7_ENST00000234626.6_Missense_Mutation_p.H566Y|CDC7_ENST00000430031.2_Missense_Mutation_p.H538Y	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	566	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGCTTTGTTGCATCCATTTTT	0.338																																																	0													90	95	94					1																	91989963		2197	4299	6496	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1696C>T	1.37:g.91989963C>T	ENSP00000393139:p.His566Tyr		D3DT31|O00558|Q5T5U5	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.H566Y	ENST00000428239.1	37	c.1696	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045237	0.93685	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.10860	2.83;2.83;2.83	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.05517	-1.0880	10	0.72032	D	0.01	-15.2591	20.8598	0.99761	0.0:1.0:0.0:0.0	.	538;566;566	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	Y	538;566;566	ENSP00000407477:H538Y;ENSP00000234626:H566Y;ENSP00000393139:H566Y	ENSP00000234626:H566Y	H	+	1	0	CDC7	91762551	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.571000	0.82399	2.937000	0.99478	0.650000	0.86243	CAT	CDC7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.338	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	C	NM_003503		91989963	1	no_errors	ENST00000234626	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91989963	C	T	91989963	3	4	44	1	0	0	0	0	1	0	0	0	3089	710	25	4	1738	4	CDC7	1	91989963	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	59448580	91989963	157260658	5	5982										
RPRD2	23248	genome.wustl.edu	37	chr1	150443762	150443762	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ggagagatgaaagctaccccCgagagctctccaattctgta	10	11	2	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:150443762C>A	ENST00000369068.4	+	11	2342	c.2338C>A	c.(2338-2340)Cga>Aga	p.R780R	RPRD2_ENST00000401000.4_Silent_p.R754R|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Silent_p.R754R	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	780	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGCTACCCCCGAGAGCTCTC	0.493																																																	0													81	78	79					1																	150443762		1895	4115	6010	SO:0001819	synonymous_variant	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2338C>A	1.37:g.150443762C>A			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.R780	ENST00000369068.4	37	c.2338	CCDS44216.1	1																																																																																			RPRD2	-	NULL		0.493	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150443762	1	no_errors	ENST00000369068	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150443762	C	A	150443762	2	1	44	1	0	0	0	0	0	0	0	1	13647	644	23	2		2	RPRD2	1	150443762	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	58453799	150443762	98806859	6	5983										
KIAA0907	22889	genome.wustl.edu	37	chr1	155899543	155899543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gagtcagcaagttcctacatGtgagaggcacatcattaatt	9	8	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:155899543G>A	ENST00000368321.3	-	3	367	c.344C>T	c.(343-345)aCa>aTa	p.T115I	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.T115I|KIAA0907_ENST00000368319.3_Missense_Mutation_p.T115I	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	115							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTTCCTACATGTGAGAGGCAC	0.473																																																	0													159	142	148					1																	155899543		2203	4300	6503	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.344C>T	1.37:g.155899543G>A	ENSP00000357304:p.Thr115Ile		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.T115I	ENST00000368321.3	37	c.344	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165543	0.57476	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	.	0.049831	0.85682	D	0.000000	T	0.41949	0.1181	L	0.41710	1.295	0.58432	D	0.999999	B;P;B;B;B;P	0.45827	0.112;0.642;0.112;0.244;0.112;0.867	B;B;B;B;B;B	0.41988	0.047;0.139;0.02;0.043;0.047;0.372	T	0.31503	-0.9941	9	0.34782	T	0.22	-8.5552	18.7817	0.91934	0.0:0.0:1.0:0.0	.	115;115;115;115;115;115	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	I	115	.	ENSP00000357302:T115I	T	-	2	0	KIAA0907	154166167	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	6.049000	0.71053	2.767000	0.95098	0.563000	0.77884	ACA	KIAA0907	-	NULL		0.473	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	G	NM_014949		155899543	-1	no_errors	ENST00000368321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155899543	G	A	155899543	3	1	44	1	0	0	0	0	1	0	0	0	8219	1377	48	4	1548	4	KIAA0907	1	155899543	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	5455781	155899543	93351078	7	5984										
FCGR2A	2212	genome.wustl.edu	37	chr1	161475785	161475785	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tctcttttacagcttctgcaGacagtcaagctggtgagtat	9	9	3	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:161475785G>T	ENST00000271450.6	+	2	132	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.D32Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	32					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCTTCTGCAGACAGTCAAGC	0.498																																																	0													416	399	405					1																	161475785		2203	4300	6503	SO:0001583	missense	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.94G>T	1.37:g.161475785G>T	ENSP00000271450:p.Asp32Tyr		Q8WUN1|Q8WW64	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D32Y	ENST00000271450.6	37	c.94	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423323	0.43020	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01854	4.6;4.63	4.44	2.5	0.30297	.	3.150310	0.01428	N	0.014634	T	0.01765	0.0056	N	0.08118	0	0.21256	N	0.999746	D;D	0.61697	0.982;0.99	P;D	0.63597	0.827;0.916	T	0.55211	-0.8176	9	0.51188	T	0.08	.	11.1362	0.48375	0.0:0.3614:0.6386:0.0	.	32;32	P12318;P12318-2	FCG2A_HUMAN;.	Y	32	ENSP00000356949:D32Y;ENSP00000271450:D32Y	ENSP00000271450:D32Y	D	+	1	0	FCGR2A	159742409	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	1.242000	0.32755	0.409000	0.25649	0.650000	0.86243	GAC	FCGR2A	-	NULL		0.498	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	G	NM_021642		161475785	1	no_errors	ENST00000271450	ensembl	human	known	70_37	missense	SNP	0.003	T	T	161475785	G	T	161475785	3	4	44	1	0	0	0	0	1	0	0	0	5799	942	33	3	100	3	FCGR2A	1	161475785	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	5576242	161475785	87774836	8	5985										
ITPKB	3707	genome.wustl.edu	37	chr1	226829634	226829634	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ggcctcaccttgattccctcGatcctgaaccccagggtggc	10	16	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:226829634G>A	ENST00000272117.3	-	4	2438	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	ITPKB_ENST00000429204.1_Silent_p.I813I			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	813					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGATTCCCTCGATCCTGAACC	0.657																																					Colon(84;110 1851 5306 33547)												0													107	89	95					1																	226829634		2203	4300	6503	SO:0001819	synonymous_variant	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2439C>T	1.37:g.226829634G>A			Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	pfam_IPK	p.I813	ENST00000272117.3	37	c.2439	CCDS1555.1	1																																																																																			ITPKB	-	pfam_IPK		0.657	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	G	NM_002221		226829634	-1	no_errors	ENST00000272117	ensembl	human	known	70_37	silent	SNP	0.995	A	A	226829634	G	A	226829634	2	1	44	1	0	0	0	0	0	0	0	1	7938	1048	37	1		1	ITPKB	1	226829634	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	65353849	226829634	22420987	9	5986										
TRIM67	440730	genome.wustl.edu	37	chr1	231334844	231334844	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttgctcagtgtgatgcccttGtggatgctttaactcgtcag	11	9	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:231334844G>C	ENST00000366653.5	+	3	1192	c.1192G>C	c.(1192-1194)Gtg>Ctg	p.V398L	TRIM67_ENST00000366652.2_Missense_Mutation_p.V398L|TRIM67_ENST00000449018.3_Missense_Mutation_p.V336L|TRIM67_ENST00000444294.3_Missense_Mutation_p.V398L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	398					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGATGCCCTTGTGGATGCTTT	0.517																																																	0													156	162	160					1																	231334844		2004	4171	6175	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1192G>C	1.37:g.231334844G>C	ENSP00000355613:p.Val398Leu		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.V398L	ENST00000366653.5	37	c.1192	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858033	0.71834	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70045	-0.44;-0.35;-0.37;-0.45	5.61	5.61	0.85477	B-box, C-terminal (1);	0.063956	0.64402	D	0.000008	T	0.50171	0.1600	N	0.12182	0.205	0.50039	D	0.999845	B	0.34015	0.435	B	0.26202	0.067	T	0.53165	-0.8477	10	0.46703	T	0.11	.	19.6258	0.95677	0.0:0.0:1.0:0.0	.	398	Q6ZTA4	TRI67_HUMAN	L	398;398;336;398	ENSP00000412124:V398L;ENSP00000355612:V398L;ENSP00000400163:V336L;ENSP00000355613:V398L	ENSP00000355612:V398L	V	+	1	0	TRIM67	229401467	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.939000	0.75911	2.638000	0.89438	0.561000	0.74099	GTG	TRIM67	-	smart_Bbox_C		0.517	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231334844	1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	1.000	C	C	231334844	G	C	231334844	3	2	44	1	0	0	0	0	1	0	0	0	16571	1377	48	4	1202	4	TRIM67	1	231334844	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	4505210	231334844	17915777	10	5987										
TARBP1	6894	genome.wustl.edu	37	chr1	234536926	234536926	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caaatgatattctctactcaCctctagacaataatccttga	3	11	3	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:234536926C>A	ENST00000040877.1	-	25	4071		c.e25+1		TARBP1_ENST00000483404.1_Splice_Site	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTCTACTCACCTCTAGACAA	0.343																																																	0													91	85	87					1																	234536926		2203	4300	6503	SO:0001630	splice_region_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4071+1G>T	1.37:g.234536926C>A			Q9H581	Splice_Site	SNP	-	e25+1	ENST00000040877.1	37	c.4071+1	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185852	0.78789	.	.	ENSG00000059588	ENST00000040877	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4488	0.99124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TARBP1	232603549	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.975000	0.76128	2.843000	0.97960	0.655000	0.94253	.	TARBP1	-	-		0.343	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646	Intron	234536926	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	234536926	C	A	234536926	5	1	44	1	0	0	0	0	0	0	1	0	15585	521	18	4	817	4	TARBP1	1	234536926	Splice_Site	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	3202082	234536926	14713695	11	5988										
NLRP3	114548	genome.wustl.edu	37	chr1	247587658	247587658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tcttcctcatggacggcttcGatgagctgcaaggtgccttt	11	11	2	1	rs121908153		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:247587658G>A	ENST00000336119.3	+	3	1659	c.913G>A	c.(913-915)Gat>Aat	p.D305N	NLRP3_ENST00000348069.2_Missense_Mutation_p.D305N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D305N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D305N|NLRP3_ENST00000366497.2_Missense_Mutation_p.D305N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.D305N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	305	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		D -> G (in CINCA). {ECO:0000269|PubMed:14630794}.|D -> N (in CINCA and MWS). {ECO:0000269|PubMed:11992256, ECO:0000269|PubMed:12032915, ECO:0000269|PubMed:12483741, ECO:0000269|PubMed:14630794, ECO:0000269|PubMed:15593220}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACGGCTTCGATGAGCTGCA	0.577																																																	0			GRCh37	CM021071|CM076355	NLRP3	M	rs121908153						74	73	73					1																	247587658		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.913G>A	1.37:g.247587658G>A	ENSP00000337383:p.Asp305Asn		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D305N	ENST00000336119.3	37	c.913	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335843	0.60853	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.000000	0.53938	D	0.000055	D	0.95645	0.8584	H	0.95504	3.68	0.48632	D	0.999681	D;D;D;D;D	0.89917	1.0;1.0;0.992;0.999;1.0	D;D;P;D;D	0.97110	0.993;0.988;0.761;0.962;1.0	D	0.95988	0.8983	10	0.87932	D	0	.	11.9927	0.53184	0.0:0.0:1.0:0.0	.	305;305;305;305;305	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	305	ENSP00000375704:D305N;ENSP00000355453:D305N;ENSP00000337383:D305N;ENSP00000294752:D305N;ENSP00000355452:D305N;ENSP00000375703:D305N	ENSP00000337383:D305N	D	+	1	0	NLRP3	245654281	1.000000	0.71417	0.247000	0.24249	0.325000	0.28411	6.713000	0.74686	2.543000	0.85770	0.563000	0.77884	GAT	NLRP3	-	pfscan_NACHT_NTPase		0.577	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	G	NM_004895		247587658	1	no_errors	ENST00000336119	ensembl	human	known	70_37	missense	SNP	0.998	A	A	247587658	G	A	247587658	3	1	44	1	0	0	0	0	1	0	0	0	10502	1058	37	1	923	1	NLRP3	1	247587658	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	13050732	247587658	1662963	12	5989										
TRIM58	25893	genome.wustl.edu	37	chr1	248039700	248039700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctgtgatgcaactcctcttaTcttgccacccacaacaatag	5	14	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr1:248039700T>C	ENST00000366481.3	+	6	1418	c.1370T>C	c.(1369-1371)aTc>aCc	p.I457T	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTCCTCTTATCTTGCCACCC	0.408																																																	0													125	119	121					1																	248039700		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1370T>C	1.37:g.248039700T>C	ENSP00000355437:p.Ile457Thr		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I457T	ENST00000366481.3	37	c.1370	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.389961	0.01185	.	.	ENSG00000162722	ENST00000366481	T	0.59638	0.25	4.05	-4.6	0.03390	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.750321	0.12128	N	0.497058	T	0.16385	0.0394	N	0.00633	-1.31	0.09310	N	1	B	0.10296	0.003	B	0.17722	0.019	T	0.25813	-1.0121	10	0.17369	T	0.5	.	2.0995	0.03676	0.1501:0.3971:0.154:0.2987	.	457	Q8NG06	TRI58_HUMAN	T	457	ENSP00000355437:I457T	ENSP00000355437:I457T	I	+	2	0	TRIM58	246106323	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.116000	0.10724	-0.945000	0.03681	-0.280000	0.10049	ATC	TRIM58	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.408	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	T	NM_015431		248039700	1	no_errors	ENST00000366481	ensembl	human	known	70_37	missense	SNP	0.000	C	C	248039700	T	C	248039700	3	2	44	1	0	0	0	0	1	0	0	0	16562	1435	50	5	1392	5	TRIM58	1	248039700	Missense_Mutation	SNP	T	TCGA-C5-A7CK-01A-11D-A32I-09	452042	248039700	1210921	13	5990										
NT5C1B	93034	genome.wustl.edu	37	chr2	18768822	18768822	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttcctttcttttttctgcttCtagactctcttttgaggacc	5	11	4	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:18768822C>G	ENST00000359846.2	-	2	144	c.67G>C	c.(67-69)Gaa>Caa	p.E23Q	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E23Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E23Q|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E23Q	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	23					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTTCTGCTTCTAGACTCTCT	0.398																																																	0													177	166	169					2																	18768822		2203	4300	6503	SO:0001583	missense	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.67G>C	2.37:g.18768822C>G	ENSP00000352904:p.Glu23Gln		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.E23Q	ENST00000359846.2	37	c.67	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284829	0.23392	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.91740	-2.9	5.1	5.1	0.69264	.	0.584454	0.15513	N	0.258453	D	0.85902	0.5805	N	0.19112	0.55	0.09310	N	1	P;P;P;P;B;P;P;P	0.49447	0.924;0.813;0.759;0.924;0.319;0.745;0.629;0.745	B;B;B;B;B;B;B;B	0.43082	0.352;0.202;0.23;0.352;0.193;0.407;0.23;0.407	T	0.79778	-0.1660	10	0.66056	D	0.02	-5.527	9.4552	0.38750	0.0:0.9065:0.0:0.0935	.	23;23;23;23;23;23;23;23	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	Q	23	ENSP00000412639:E23Q	ENSP00000305979:E23Q	E	-	1	0	NT5C1B-RDH14;NT5C1B	18632303	0.922000	0.31269	0.712000	0.30502	0.157000	0.22087	2.142000	0.42177	2.648000	0.89879	0.563000	0.77884	GAA	NT5C1B	-	NULL		0.398	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	C			18768822	-1	no_errors	ENST00000359846	ensembl	human	known	70_37	missense	SNP	0.272	G	G	18768822	C	G	18768822	3	3	44	1	0	0	0	0	1	0	0	0	10710	922	32	1	1801	1	NT5C1B	2	18768822	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		18768822	224430551	14	5991										
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27898427	27898427	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	aaaaggaaagccaagaactgGgaagatgaagacttttatga	11	4	0	5			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:27898427G>A	ENST00000326019.6	+	6	1656	c.1374G>A	c.(1372-1374)tgG>tgA	p.W458*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	458						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGAACTGGGAAGATGAAG	0.363																																																	0													103	107	106					2																	27898427		2203	4300	6503	SO:0001587	stop_gained	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1374G>A	2.37:g.27898427G>A	ENSP00000323837:p.Trp458*		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.W458*	ENST00000326019.6	37	c.1374	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.182898	0.98118	.	.	ENSG00000163798	ENST00000326019	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-3.7967	19.5643	0.95386	0.0:0.0:1.0:0.0	.	.	.	.	X	458	.	ENSP00000323837:W458X	W	+	3	0	SLC4A1AP	27751931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.148000	0.94652	2.639000	0.89480	0.555000	0.69702	TGG	SLC4A1AP	-	NULL		0.363	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	G	NM_018158		27898427	1	no_errors	ENST00000326019	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27898427	G	A	27898427	4	1	44	1	0	0	0	0	0	1	0	0	14683	1241	43	4	1396	4	SLC4A1AP	2	27898427	Nonsense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	9129605	27898427	215300946	15	5992										
GFPT1	2673	genome.wustl.edu	37	chr2	69569334	69569334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agcaataagaatcaaacgccGgcatctctggatctccttta	7	11	3	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:69569334G>A	ENST00000357308.4	-	13	1331	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	GFPT1_ENST00000361060.5_Missense_Mutation_p.R367W	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	385	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATCAAACGCCGGCATCTCTGG	0.338																																																	0													135	146	143					2																	69569334		2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1153C>T	2.37:g.69569334G>A	ENSP00000349860:p.Arg385Trp		Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.R385W	ENST00000357308.4	37	c.1153	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868374	0.72065	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.73363	-0.74;-0.74	5.02	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.90229	0.6945	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93167	0.6563	10	0.87932	D	0	-10.6831	14.0257	0.64584	0.0:0.0:0.848:0.152	.	367	Q06210-2	.	W	385;367	ENSP00000349860:R385W;ENSP00000354347:R367W	ENSP00000349860:R385W	R	-	1	2	GFPT1	69422838	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.990000	0.49401	1.324000	0.45282	0.557000	0.71058	CGG	GFPT1	-	pfam_SIS,tigrfam_GlmS_trans		0.338	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		G			69569334	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69569334	G	A	69569334	3	1	44	1	0	0	0	0	1	0	0	0	6364	1115	39	2	978	2	GFPT1	2	69569334	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	41670907	69569334	173630039	16	5993										
DNAH6	1768	genome.wustl.edu	37	chr2	84806665	84806665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tcttaggtgctaaattttatGcttcctcgtcaaagcaagaa	7	8	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:84806665G>A	ENST00000237449.6	+	13	2099	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	DNAH6_ENST00000389394.3_Missense_Mutation_p.M697I|DNAH6_ENST00000398278.2_Missense_Mutation_p.M697I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	697	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAAATTTTATGCTTCCTCGTC	0.328																																																	0													108	104	105					2																	84806665		2203	4300	6503	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2091G>A	2.37:g.84806665G>A	ENSP00000237449:p.Met697Ile		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.M697I	ENST00000237449.6	37	c.2091	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	5.409	0.260710	0.10239	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.23348	1.91;2.04;1.91	5.6	5.6	0.85130	.	0.000000	0.49916	D	0.000139	T	0.22085	0.0532	L	0.33485	1.01	0.33523	D	0.592649	B;B	0.20459	0.001;0.045	B;B	0.17722	0.002;0.019	T	0.14364	-1.0475	10	0.16896	T	0.51	.	18.3806	0.90449	0.0:0.0:1.0:0.0	.	697;276	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	697	ENSP00000374045:M697I;ENSP00000381326:M697I;ENSP00000237449:M697I	ENSP00000237449:M697I	M	+	3	0	DNAH6	84660176	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	4.135000	0.57997	2.650000	0.89964	0.655000	0.94253	ATG	DNAH6	-	NULL		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84806665	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84806665	G	A	84806665	3	1	44	1	0	0	0	0	1	0	0	0	4615	1319	46	4	2141	4	DNAH6	2	84806665	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	15237331	84806665	158392708	17	5994										
AFF3	3899	genome.wustl.edu	37	chr2	100199393	100199393	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cgctggtgtatttgtgtttaGatgcatcagagaggggtgag	16	4	1	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:100199393G>C	ENST00000409236.2	-	15	2772	c.2660C>G	c.(2659-2661)tCt>tGt	p.S887C	AFF3_ENST00000409579.1_Missense_Mutation_p.S912C|AFF3_ENST00000317233.4_Missense_Mutation_p.S887C|AFF3_ENST00000356421.2_Missense_Mutation_p.S912C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	887					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTGTGTTTAGATGCATCAGA	0.423																																																	0													171	156	161					2																	100199393		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2660C>G	2.37:g.100199393G>C	ENSP00000387207:p.Ser887Cys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S912C	ENST00000409236.2	37	c.2735	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150514	0.37923	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	6.07	5.18	0.71444	.	0.160832	0.41938	N	0.000789	T	0.54287	0.1849	N	0.19112	0.55	0.33873	D	0.635131	B;B	0.18166	0.002;0.026	B;B	0.19391	0.01;0.025	T	0.62167	-0.6911	10	0.54805	T	0.06	.	15.4296	0.75081	0.0:0.143:0.857:0.0	.	887;912	P51826;P51826-2	AFF3_HUMAN;.	C	887;912;912;887	ENSP00000317421:S887C;ENSP00000348793:S912C;ENSP00000386834:S912C;ENSP00000387207:S887C	ENSP00000317421:S887C	S	-	2	0	AFF3	99565825	1.000000	0.71417	0.210000	0.23637	0.983000	0.72400	4.658000	0.61497	1.537000	0.49254	0.655000	0.94253	TCT	AFF3	-	pfam_TF_AF4/FMR2		0.423	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285		100199393	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.924	C	C	100199393	G	C	100199393	3	2	44	1	0	0	0	0	1	0	0	0	358	942	33	1	1056	1	AFF3	2	100199393	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	15392728	100199393	142999980	18	5995										
SULT1C4	27233	genome.wustl.edu	37	chr2	108999913	108999913	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	aacatgtgaaaggatggtggGaagccaaagacaaacaccgt	12	7	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:108999913G>C	ENST00000272452.2	+	5	888	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	SULT1C4_ENST00000409309.3_Missense_Mutation_p.E113Q	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	188					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGGATGGTGGGAAGCCAAAGA	0.468																																																	0													136	116	122					2																	108999913		2203	4300	6503	SO:0001583	missense	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.562G>C	2.37:g.108999913G>C	ENSP00000272452:p.Glu188Gln		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E188Q	ENST00000272452.2	37	c.562	CCDS2077.1	2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304862	0.40795	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01933	4.55;4.55	4.65	-3.01	0.05463	Sulfotransferase domain (1);	1.176420	0.06182	N	0.679663	T	0.02267	0.0070	N	0.25957	0.775	0.28774	N	0.900214	B;B	0.28933	0.228;0.003	B;B	0.30782	0.12;0.015	T	0.45381	-0.9265	10	0.51188	T	0.08	.	8.9672	0.35883	0.6949:0.1276:0.1775:0.0	.	113;188	Q08AS5;O75897	.;ST1C4_HUMAN	Q	188;113	ENSP00000272452:E188Q;ENSP00000387225:E113Q	ENSP00000272452:E188Q	E	+	1	0	SULT1C4	108366345	0.312000	0.24545	0.071000	0.20095	0.977000	0.68977	-0.052000	0.11865	-0.776000	0.04578	0.609000	0.83330	GAA	SULT1C4	-	pfam_Sulfotransferase_dom		0.468	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1C4	HGNC	protein_coding	OTTHUMT00000253561.1	G	NM_006588		108999913	1	no_errors	ENST00000272452	ensembl	human	known	70_37	missense	SNP	0.813	C	C	108999913	G	C	108999913	3	2	44	1	0	0	0	0	1	0	0	0	15409	1175	41	1	580	1	SULT1C4	2	108999913	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	8800520	108999913	134199460	19	5996										
NCKAP5	344148	genome.wustl.edu	37	chr2	133489419	133489419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctatctgcagggcgctggccGtctgtggaggaaggcacttc	15	11	2	0	rs370892586		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:133489419G>A	ENST00000409261.1	-	17	5707	c.5334C>T	c.(5332-5334)gaC>gaT	p.D1778D	NCKAP5_ENST00000409213.1_Silent_p.D459D|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Silent_p.D459D|NCKAP5_ENST00000317721.6_Silent_p.D1778D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1778										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCGCTGGCCGTCTGTGGAGG	0.592																																																	0								A	,	0,4138		0,0,2069	92	97	95		5334,1377	-1.3	0	2		95	2,8402		0,2,4200	no	coding-synonymous,coding-synonymous	NCKAP5	NM_207363.2,NM_207481.3	,	0,2,6269	AA,AG,GG		0.0238,0.0,0.0159	,	1778/1910,459/591	133489419	2,12540	2069	4202	6271	SO:0001819	synonymous_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5334C>T	2.37:g.133489419G>A			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.D1778	ENST00000409261.1	37	c.5334	CCDS46418.1	2																																																																																			NCKAP5	-	NULL		0.592	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	G	NM_207481		133489419	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	silent	SNP	0.007	A	A	133489419	G	A	133489419	2	1	44	1	0	0	0	0	0	0	0	1	10247	1136	40	2		2	NCKAP5	2	133489419	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	24489506	133489419	109709954	20	5997										
MTX2	10651	genome.wustl.edu	37	chr2	177188191	177188191	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gcagaatatatgtctccatcTggtaagtgtgtttttttttc	8	6	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:177188191T>G	ENST00000249442.6	+	4	418	c.207T>G	c.(205-207)tcT>tcG	p.S69S	MTX2_ENST00000443241.1_Intron|MTX2_ENST00000392529.2_Splice_Site_p.S59S	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	69					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGTCTCCATCTGGTAAGTGTG	0.318																																																	0													222	194	204					2																	177188191		2203	4300	6503	SO:0001630	splice_region_variant	10651			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.208+1T>G	2.37:g.177188191T>G			A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Silent	SNP	pfam_Tom37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.S69	ENST00000249442.6	37	c.207	CCDS2272.1	2																																																																																			MTX2	-	pfam_Tom37/metaxin,superfamily_Thioredoxin-like_fold		0.318	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTX2	HGNC	protein_coding	OTTHUMT00000255695.4	T	NM_006554	Silent	177188191	1	no_errors	ENST00000249442	ensembl	human	known	70_37	silent	SNP	1.000	G	G	177188191	T	G	177188191	5	3	44	1	0	0	0	0	0	0	1	0	9991	1594	55	5	221	5	MTX2	2	177188191	Splice_Site	SNP	T	TCGA-C5-A7CK-01A-11D-A32I-09	43698772	177188191	66011182	21	5998										
C2orf85	285093	genome.wustl.edu	37	chr2	242815292	242815292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gccgggaggaagacgagcgcCctggccgtgcctgccgtagg	18	13	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr2:242815292C>T	ENST00000343216.3	+	2	1613	c.1585C>T	c.(1585-1587)Cct>Tct	p.P529S		NM_173821.2	NP_776182.2																					AGACGAGCGCCCTGGCCGTGC	0.642																																																	0													60	71	67					2																	242815292		2047	4163	6210	SO:0001583	missense	0																														ENST00000343216.3:c.1585C>T	2.37:g.242815292C>T	ENSP00000345374:p.Pro529Ser			Missense_Mutation	SNP	NULL	p.P529S	ENST00000343216.3	37	c.1585	CCDS42843.1	2	.	.	.	.	.	.	.	.	.	.	.	1.012	-0.687430	0.03328	.	.	ENSG00000188011	ENST00000343216	T	0.21734	1.99	2.16	-4.32	0.03688	.	.	.	.	.	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34054	-0.9844	9	0.18276	T	0.48	.	5.013	0.14322	0.0:0.426:0.3179:0.2562	.	529	Q14D33	CB085_HUMAN	S	529	ENSP00000345374:P529S	ENSP00000345374:P529S	P	+	1	0	C2orf85	242463965	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	-0.496000	0.06436	-1.920000	0.01069	0.196000	0.17591	CCT	CXXC11	-	NULL		0.642	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1	C			242815292	1	no_errors	ENST00000343216	ensembl	human	known	70_37	missense	SNP	0.000	T	T	242815292	C	T	242815292	3	4	44	1	0	0	0	0	1	0	0	0	2205	623	22	4	1591	4	C2orf85	2	242815292	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	65627101	242815292	384081	22	5999										
FGD5	152273	genome.wustl.edu	37	chr3	14862555	14862555	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tttaagcgcttcctggcactGacgtttaagaagaagacgga	11	8	0	4			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:14862555G>A	ENST00000285046.5	+	1	2087	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	FGD5_ENST00000543601.1_Silent_p.L418L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	659					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCTGGCACTGACGTTTAAGA	0.507																																																	0													83	82	82					3																	14862555		1979	4167	6146	SO:0001819	synonymous_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1977G>A	3.37:g.14862555G>A			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L659	ENST00000285046.5	37	c.1977	CCDS46767.1	3																																																																																			FGD5	-	NULL		0.507	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14862555	1	no_errors	ENST00000285046	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14862555	G	A	14862555	2	1	44	1	0	0	0	0	0	0	0	1	5854	1277	45	1		1	FGD5	3	14862555	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		14862555	183159875	23	6000										
FGD5	152273	genome.wustl.edu	37	chr3	14862755	14862755	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctcctccctcatcttttataGagatggcaagaggaaaggtg	10	9	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:14862755G>C	ENST00000285046.5	+	1	2287	c.2177G>C	c.(2176-2178)aGa>aCa	p.R726T	FGD5_ENST00000543601.1_Missense_Mutation_p.R485T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	726					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATCTTTTATAGAGATGGCAAG	0.587																																																	0													53	56	55					3																	14862755		1889	4107	5996	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2177G>C	3.37:g.14862755G>C	ENSP00000285046:p.Arg726Thr		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R726T	ENST00000285046.5	37	c.2177	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622472	0.46840	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.79653	-1.29;-1.16	5.03	3.21	0.36854	.	0.117427	0.41194	D	0.000923	T	0.72779	0.3503	L	0.54323	1.7	0.09310	N	1	P;D	0.54772	0.932;0.968	B;B	0.42851	0.321;0.4	T	0.67791	-0.5579	10	0.62326	D	0.03	-24.3096	5.1191	0.14851	0.4111:0.0:0.5889:0.0	.	485;726	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	726;485	ENSP00000285046:R726T;ENSP00000445949:R485T	ENSP00000285046:R726T	R	+	2	0	FGD5	14837759	1.000000	0.71417	0.088000	0.20740	0.985000	0.73830	3.586000	0.53950	1.250000	0.43966	0.591000	0.81541	AGA	FGD5	-	NULL		0.587	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14862755	1	no_errors	ENST00000285046	ensembl	human	known	70_37	missense	SNP	0.192	C	C	14862755	G	C	14862755	3	2	44	1	0	0	0	0	1	0	0	0	5854	942	33	1	2179	1	FGD5	3	14862755	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	200	14862755	183159675	24	6001										
TGFBR2	7048	genome.wustl.edu	37	chr3	30691762	30691762	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	aatgaatctcttcactctagGagaaagaatgacgagaacat	8	7	3	5			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:30691762G>A	ENST00000295754.5	+	3	646	c.264G>A	c.(262-264)tgG>tgA	p.W88*	TGFBR2_ENST00000359013.4_Splice_Site_p.W113*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	88					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCACTCTAGGAGAAAGAATG	0.443																																																	0													92	89	90					3																	30691762		2203	4300	6503	SO:0001630	splice_region_variant	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.264-1G>A	3.37:g.30691762G>A			B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.W113*	ENST00000295754.5	37	c.339	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.290493	0.98745	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	.	.	.	X	88;113	.	.	W	+	3	0	TGFBR2	30666766	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.895000	0.87343	2.757000	0.94681	0.655000	0.94253	TGG	TGFBR2	-	pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2		0.443	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	G		Nonsense_Mutation	30691762	1	no_errors	ENST00000359013	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	30691762	G	A	30691762	5	1	44	1	0	0	0	0	0	0	1	0	15852	1188	41	1	353	1	TGFBR2	3	30691762	Splice_Site	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	15829007	30691762	167330668	25	6002										
LAMB2	3913	genome.wustl.edu	37	chr3	49160566	49160566	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cccaacacttcaacctcaccAgctcatttatgtctgtcagg	5	15	5	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:49160566A>G	ENST00000418109.1	-	27	4387	c.4223T>C	c.(4222-4224)cTg>cCg	p.L1408P	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Splice_Site_p.L1408P|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1408	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAACCTCACCAGCTCATTTAT	0.577																																																	0													105	99	101					3																	49160566		2203	4300	6503	SO:0001630	splice_region_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4224+1T>C	3.37:g.49160566A>G			Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1408P	ENST00000418109.1	37	c.4223	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	A	9.087	1.000746	0.19121	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.34275	1.37;1.37	5.5	5.5	0.81552	.	0.131736	0.47093	D	0.000248	T	0.42337	0.1198	L	0.47716	1.5	0.80722	D	1	D	0.60575	0.988	P	0.54664	0.758	T	0.26503	-1.0101	10	0.39692	T	0.17	.	9.288	0.37769	0.7267:0.0:0.0:0.2733	.	1408	P55268	LAMB2_HUMAN	P	1408;1408;175	ENSP00000388325:L1408P;ENSP00000307156:L1408P	ENSP00000307156:L1408P	L	-	2	0	LAMB2	49135570	1.000000	0.71417	0.997000	0.53966	0.086000	0.17979	5.029000	0.64121	2.076000	0.62316	0.482000	0.46254	CTG	LAMB2	-	NULL		0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	A	NM_002292	Missense_Mutation	49160566	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49160566	A	G	49160566	5	3	44	1	0	0	0	0	0	0	1	0	8631	202	7	5	1201	5	LAMB2	3	49160566	Splice_Site	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	18468804	49160566	148861864	26	6003										
CACNA2D2	9254	genome.wustl.edu	37	chr3	50404531	50404531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cattctccagctccagcggcCttaacagggctgggggttgg	14	12	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:50404531C>T	ENST00000479441.1	-	29	2431	c.2432G>A	c.(2431-2433)aGg>aAg	p.R811K	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R804K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R804K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R804K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R811K|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R811K|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R735K|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R804K|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	811					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCCAGCGGCCTTAACAGGGC	0.612																																																	0													37	36	37					3																	50404531		2203	4299	6502	SO:0001583	missense	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2432G>A	3.37:g.50404531C>T	ENSP00000418081:p.Arg811Lys		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R811K	ENST00000479441.1	37	c.2432	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737495	0.03111	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.73	4.85	0.62838	.	0.749470	0.12899	N	0.429967	T	0.46092	0.1375	N	0.08118	0	0.30531	N	0.767401	B;B	0.15719	0.008;0.014	B;B	0.11329	0.003;0.006	T	0.29518	-1.0009	10	0.15499	T	0.54	-9.0548	13.8423	0.63446	0.0:0.9262:0.0:0.0738	.	811;804	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	K	811;804;804;735;811;804;804;811	ENSP00000407393:R811K;ENSP00000404631:R804K;ENSP00000266039:R804K;ENSP00000354228:R735K;ENSP00000390526:R811K;ENSP00000378519:R804K;ENSP00000390329:R804K;ENSP00000418081:R811K	ENSP00000266039:R804K	R	-	2	0	CACNA2D2	50379535	0.998000	0.40836	0.988000	0.46212	0.026000	0.11368	4.429000	0.59901	2.722000	0.93159	0.655000	0.94253	AGG	CACNA2D2	-	NULL		0.612	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	C	NM_006030		50404531	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	missense	SNP	0.933	T	T	50404531	C	T	50404531	3	4	44	1	0	0	0	0	1	0	0	0	2554	681	24	4	1070	4	CACNA2D2	3	50404531	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1243965	50404531	147617899	27	6004										
RPL29	6159	genome.wustl.edu	37	chr3	52027880	52027880	+	Frame_Shift_Del	DEL	T	T	-													0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccttggccttggccttggccTttggccggcacagcctgagc					rs375418619		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:52027880delT	ENST00000466397.1	-	4	505	c.365delA	c.(364-366)aagfs	p.K122fs	RPL29_ENST00000294189.6_Frame_Shift_Del_p.K122fs|RPL29_ENST00000495383.1_Frame_Shift_Del_p.K122fs|RPL29_ENST00000479017.1_Frame_Shift_Del_p.K122fs|RPL29_ENST00000475248.1_Frame_Shift_Del_p.K122fs			P47914	RL29_HUMAN	ribosomal protein L29	122					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ggccttggcctttggccGGCA	0.627																																																	0													26	32	30					3																	52027880		1787	3474	5261	SO:0001589	frameshift_variant	6159			U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.365delA	3.37:g.52027880delT	ENSP00000418868:p.Lys122fs		A8K0H3|B2R4M8|Q6IPY3	Frame_Shift_Del	DEL	pfam_Ribosomal_L29e	p.K122fs	ENST00000466397.1	37	c.365	CCDS2845.1	3																																																																																			RPL29	-	NULL		0.627	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL29	HGNC	protein_coding	OTTHUMT00000349680.2	T	NM_000992		52027880	-1	no_errors	ENST00000294189	ensembl	human	known	70_37	frame_shift_del	DEL	0.982	-	-	52027880	T	-	52027880	7	5	44	1	0	1	0	1	0	0	0	0	13608	1609	56	0	118	0	RPL29	3	52027880	Frame_Shift_Del	DEL	T	TCGA-C5-A7CK-01A-11D-A32I-09	1623349	52027880	145994550	28	6005										
HEG1	57493	genome.wustl.edu	37	chr3	124739958	124739958	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccagtggagttgttaagcttCtctgtactttcagaagctac	9	9	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:124739958C>T	ENST00000311127.4	-	4	997	c.930G>A	c.(928-930)gaG>gaA	p.E310E	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	310					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGTTAAGCTTCTCTGTACTTT	0.433																																																	0													40	38	38					3																	124739958		1946	4148	6094	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.930G>A	3.37:g.124739958C>T			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.E310	ENST00000311127.4	37	c.930	CCDS46898.1	3																																																																																			HEG1	-	NULL		0.433	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	C	XM_087386		124739958	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	silent	SNP	0.001	T	T	124739958	C	T	124739958	2	4	44	1	0	0	0	0	0	0	0	1	7064	912	32	1		1	HEG1	3	124739958	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	72712078	124739958	73282472	29	6006										
TOPBP1	11073	genome.wustl.edu	37	chr3	133347439	133347439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctctttcagttgagggctggCagaaagagcgacagcatttc	12	9	2	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:133347439C>A	ENST00000260810.5	-	15	2790	c.2659G>T	c.(2659-2661)Gcc>Tcc	p.A887S		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	887					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGGGCTGGCAGAAAGAGCG	0.408								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													67	65	66					3																	133347439		1924	4147	6071	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2659G>T	3.37:g.133347439C>A	ENSP00000260810:p.Ala887Ser		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.A887S	ENST00000260810.5	37	c.2659	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591701	0.86953	.	.	ENSG00000163781	ENST00000260810	T	0.13657	2.57	5.31	5.31	0.75309	.	0.261015	0.42053	D	0.000775	T	0.21022	0.0506	M	0.61703	1.905	0.58432	D	0.999999	P	0.46706	0.883	P	0.45232	0.474	T	0.03807	-1.1002	10	0.15066	T	0.55	.	19.3331	0.94299	0.0:1.0:0.0:0.0	.	887	Q92547	TOPB1_HUMAN	S	887	ENSP00000260810:A887S	ENSP00000260810:A887S	A	-	1	0	TOPBP1	134830129	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.917000	0.75782	2.628000	0.89032	0.650000	0.86243	GCC	TOPBP1	-	NULL		0.408	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	C	NM_007027		133347439	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133347439	C	A	133347439	3	1	44	1	0	0	0	0	1	0	0	0	16400	710	25	4	1965	4	TOPBP1	3	133347439	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	8607481	133347439	64674991	30	6007										
TM4SF19	116211	genome.wustl.edu	37	chr3	196050851	196050851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agacggagttccagagcgaaCggtcatacagataattccta	10	9	1	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr3:196050851C>T	ENST00000273695.3	-	5	592	c.467G>A	c.(466-468)cGt>cAt	p.R156H	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.R156H|TM4SF19_ENST00000446879.1_Missense_Mutation_p.V155I|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.R130H	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	156						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCAGAGCGAACGGTCATACAG	0.537																																																	0													68	64	65					3																	196050851		2203	4300	6503	SO:0001583	missense	116211			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.467G>A	3.37:g.196050851C>T	ENSP00000273695:p.Arg156His		B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	pfam_L6_membrane	p.R156H	ENST00000273695.3	37	c.467	CCDS3316.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.899|1.899	-0.453465|-0.453465	0.04540|0.04540	.|.	.|.	ENSG00000145107|ENSG00000145107	ENST00000454715;ENST00000273695|ENST00000446879	T;T|T	0.31247|0.24350	1.5;1.5|1.86	5.13|5.13	-8.16|-8.16	0.01061|0.01061	.|.	0.861805|.	0.10026|.	N|.	0.725424|.	T|T	0.13415|0.13415	0.0325|0.0325	N|N	0.10874|0.10874	0.06|0.06	0.21256|0.21256	N|N	0.999745|0.999745	B;B|B	0.14012|0.25390	0.004;0.009|0.125	B;B|B	0.10450|0.11329	0.004;0.005|0.006	T|T	0.18304|0.18304	-1.0341|-1.0341	10|9	0.32370|0.66056	T|D	0.25|0.02	-11.171|-11.171	17.5894|17.5894	0.87991|0.87991	0.0:0.7759:0.0:0.2241|0.0:0.7759:0.0:0.2241	.|.	130;156|155	E9PH22;Q96DZ7|C9JCD5	.;T4S19_HUMAN|.	H|I	130;156|155	ENSP00000387728:R130H;ENSP00000273695:R156H|ENSP00000395280:V155I	ENSP00000273695:R156H|ENSP00000395280:V155I	R|V	-|-	2|1	0|0	TM4SF19|TM4SF19	197535248|197535248	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.221000|0.221000	0.24807|0.24807	-5.556000|-5.556000	0.00113|0.00113	-1.588000|-1.588000	0.01627|0.01627	-0.471000|-0.471000	0.05019|0.05019	CGT|GTT	TM4SF19	-	pfam_L6_membrane		0.537	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF19	HGNC	protein_coding	OTTHUMT00000341174.1	C	NM_138461		196050851	-1	no_errors	ENST00000273695	ensembl	human	known	70_37	missense	SNP	0.005	T	T	196050851	C	T	196050851	3	4	44	1	0	0	0	0	1	0	0	0	15998	536	19	2	166	2	TM4SF19	3	196050851	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	62703412	196050851	1971579	31	6008										
TERT	7015	genome.wustl.edu	37	chr5	1280343	1280343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caatcggccgcagcccgtcaGgcttggggatgaagcggagt	16	11	1	1	rs146439826		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:1280343G>T	ENST00000310581.5	-	4	1937	c.1880C>A	c.(1879-1881)cCt>cAt	p.P627H	TERT_ENST00000334602.6_Missense_Mutation_p.P627H|TERT_ENST00000508104.2_Missense_Mutation_p.P627H|TERT_ENST00000296820.5_Missense_Mutation_p.P627H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	627	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CAGCCCGTCAGGCTTGGGGAT	0.597									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													98	94	96					5																	1280343		2203	4300	6503	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1880C>A	5.37:g.1280343G>T	ENSP00000309572:p.Pro627His		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.P627H	ENST00000310581.5	37	c.1880	CCDS3861.2	5	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337603	0.24253	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96716	-4.1;-4.04;-4.0;-4.04	4.48	0.402	0.16344	Reverse transcriptase (1);	0.358987	0.30177	N	0.010239	D	0.95671	0.8592	M	0.65975	2.015	0.09310	N	0.999999	D;D;D	0.69078	0.99;0.997;0.983	P;P;B	0.56865	0.634;0.808;0.431	D	0.89839	0.4001	10	0.44086	T	0.13	-0.1107	5.0078	0.14297	0.27:0.1518:0.5782:0.0	.	627;627;627	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	H	627	ENSP00000309572:P627H;ENSP00000296820:P627H;ENSP00000334346:P627H;ENSP00000426042:P627H	ENSP00000296820:P627H	P	-	2	0	TERT	1333343	0.340000	0.24792	0.043000	0.18650	0.110000	0.19582	0.627000	0.24506	-0.268000	0.09312	0.407000	0.27541	CCT	TERT	-	pfscan_RVT		0.597	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	G			1280343	-1	no_errors	ENST00000310581	ensembl	human	known	70_37	missense	SNP	0.090	T	T	1280343	G	T	1280343	3	4	44	1	0	0	0	0	1	0	0	0	15794	1000	35	4	1570	4	TERT	5	1280343	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		1280343	179634917	32	6009										
EGFLAM	133584	genome.wustl.edu	37	chr5	38427342	38427342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctttgactgtggctctgggaCcggtgtcctcaggtgagggc	16	10	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:38427342C>A	ENST00000354891.3	+	14	2388	c.2042C>A	c.(2041-2043)aCc>aAc	p.T681N	EGFLAM_ENST00000397202.2_Missense_Mutation_p.T47N|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.T681N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.T447N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	681	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCTCTGGGACCGGTGTCCTC	0.507																																					Colon(62;485 1295 3347 17454)												0													147	151	149					5																	38427342		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2042C>A	5.37:g.38427342C>A	ENSP00000346964:p.Thr681Asn		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.T681N	ENST00000354891.3	37	c.2042	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830339	0.71258	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.80033	-1.1;-1.1;-1.1;-1.33	5.44	5.44	0.79542	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.279348	0.40222	N	0.001142	D	0.89329	0.6684	M	0.83118	2.625	0.80722	D	1	D;D;P	0.55800	0.967;0.973;0.93	P;P;P	0.58266	0.681;0.836;0.721	D	0.89918	0.4057	10	0.54805	T	0.06	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	447;681;681	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	N	681;681;447;47;447	ENSP00000346964:T681N;ENSP00000313084:T681N;ENSP00000337607:T447N;ENSP00000380385:T47N	ENSP00000313084:T681N	T	+	2	0	EGFLAM	38463099	1.000000	0.71417	0.654000	0.29608	0.993000	0.82548	4.394000	0.59671	2.555000	0.86185	0.561000	0.74099	ACC	EGFLAM	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	C	NM_152403		38427342	1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	0.990	A	A	38427342	C	A	38427342	3	1	44	1	0	0	0	0	1	0	0	0	4976	507	18	4	2110	4	EGFLAM	5	38427342	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	37146999	38427342	142487918	33	6010										
ST8SIA4	7903	genome.wustl.edu	37	chr5	100191850	100191850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caatgacggataggcagttcGcactttcagtttattcttaa	8	8	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:100191850G>A	ENST00000231461.5	-	4	1064	c.754C>T	c.(754-756)Cga>Tga	p.R252*		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	252					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R252*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGGCAGTTCGCACTTTCAGT	0.433																																																	1	Substitution - Nonsense(1)	large_intestine(1)											150	132	138					5																	100191850		2203	4300	6503	SO:0001587	stop_gained	7903			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.754C>T	5.37:g.100191850G>A	ENSP00000231461:p.Arg252*		A8KA07|G3V104|Q8N1F4|Q92693	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R252*	ENST00000231461.5	37	c.754	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.577882	0.96565	.	.	ENSG00000113532	ENST00000231461	.	.	.	5.32	4.44	0.53790	.	0.078508	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9773	12.5902	0.56439	0.0:0.0:0.6999:0.3001	.	.	.	.	X	252	.	ENSP00000231461:R252X	R	-	1	2	ST8SIA4	100219749	1.000000	0.71417	0.996000	0.52242	0.225000	0.24961	4.415000	0.59809	1.437000	0.47472	0.591000	0.81541	CGA	ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.433	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	G	NM_005668		100191850	-1	no_errors	ENST00000231461	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	100191850	G	A	100191850	4	1	44	1	0	0	0	0	0	1	0	0	15264	1095	38	2	333	2	ST8SIA4	5	100191850	Nonsense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	61764508	100191850	80723410	34	6011										
DCP2	167227	genome.wustl.edu	37	chr5	112346477	112346477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtgaaaagaaacttcatccaCggaaacttcaggataatttt	7	7	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:112346477C>T	ENST00000389063.2	+	10	1270	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	DCP2_ENST00000515408.1_Missense_Mutation_p.R323W|DCP2_ENST00000543319.1_Missense_Mutation_p.R147W	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	358					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACTTCATCCACGGAAACTTCA	0.313																																																	0													160	169	166					5																	112346477		2201	4300	6501	SO:0001583	missense	167227			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.1072C>T	5.37:g.112346477C>T	ENSP00000373715:p.Arg358Trp		C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R358W	ENST00000389063.2	37	c.1072	CCDS34210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.028532|4.028532	0.75390|0.75390	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.69175|.	-0.38;0.27|.	5.74|5.74	3.78|3.78	0.43462|0.43462	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44808|0.44808	0.1311|0.1311	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.27502|0.27502	-1.0072|-1.0072	10|5	0.87932|.	D|.	0|.	.|.	7.772|7.772	0.29015|0.29015	0.3052:0.5729:0.1219:0.0|0.3052:0.5729:0.1219:0.0	.|.	323;358|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	W|M	323;358;147|339	ENSP00000425770:R323W;ENSP00000373715:R358W|.	ENSP00000373715:R358W|.	R|T	+|+	1|2	2|0	DCP2|DCP2	112374376|112374376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.566000|2.566000	0.45948|0.45948	1.413000|1.413000	0.46997|0.46997	0.637000|0.637000	0.83480|0.83480	CGG|ACG	DCP2	-	NULL		0.313	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	HGNC	protein_coding	OTTHUMT00000370765.3	C	NM_152624		112346477	1	no_errors	ENST00000389063	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112346477	C	T	112346477	3	4	44	1	0	0	0	0	1	0	0	0	4305	527	19	2	1110	2	DCP2	5	112346477	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	12154627	112346477	68568783	35	6012										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720206	140720206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctgttcgtgctggaccagaaCgacaacgcgcccgagatcct	11	14	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:140720206C>T	ENST00000394576.2	+	1	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAACGCGC	0.617																																																	0													162	162	162					5																	140720206		2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1668C>T	5.37:g.140720206C>T			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N556	ENST00000394576.2	37	c.1668	CCDS47289.1	5																																																																																			PCDHGA2	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.617	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140720206	1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.364	T	T	140720206	C	T	140720206	2	4	44	1	0	0	0	0	0	0	0	1	11578	535	19	2		2	PCDHGA2	5	140720206	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	28373729	140720206	40195054	36	6013										
GRK6	2870	genome.wustl.edu	37	chr5	176859762	176859762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ggtgacgaactgcacccagcGgctggagcagggtccctgca	15	13	0	1	rs2230881	byFrequency	TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:176859762G>T	ENST00000355472.5	+	5	563	c.395G>T	c.(394-396)cGg>cTg	p.R132L	GRK6_ENST00000393576.3_Missense_Mutation_p.R132L|GRK6_ENST00000507633.1_Missense_Mutation_p.R132L|GRK6_ENST00000528793.1_Missense_Mutation_p.R132L|GRK6_ENST00000355958.5_Missense_Mutation_p.R132L	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	132	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCCAGCGGCTGGAGCAG	0.632																																																	0													22	24	23					5																	176859762		2202	4299	6501	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.395G>T	5.37:g.176859762G>T	ENSP00000347655:p.Arg132Leu		O60541|Q13652	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.R132L	ENST00000355472.5	37	c.395	CCDS34303.1	5	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603766	0.28534	.	.	ENSG00000198055	ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51;4.51;4.51	4.99	1.03	0.20045	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.220399	0.43260	D	0.000594	T	0.03053	0.0090	L	0.58810	1.83	0.54753	D	0.999981	B;B;B;B	0.31174	0.024;0.075;0.009;0.311	B;B;B;B	0.32465	0.031;0.05;0.007;0.146	T	0.51926	-0.8643	10	0.31617	T	0.26	-8.8572	9.4546	0.38747	0.3049:0.0:0.6951:0.0	.	132;102;132;132	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	L	100;100;132;132;132;132;132	ENSP00000421055:R100L;ENSP00000425391:R100L;ENSP00000347655:R132L;ENSP00000427581:R132L;ENSP00000377204:R132L;ENSP00000348230:R132L;ENSP00000433511:R132L	ENSP00000347655:R132L	R	+	2	0	GRK6	176792368	0.765000	0.28485	0.995000	0.50966	0.250000	0.25880	0.561000	0.23515	-0.087000	0.12528	-0.258000	0.10820	CGG	GRK6	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.632	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRK6	HGNC	protein_coding	OTTHUMT00000373204.1	G	NM_002082		176859762	1	no_errors	ENST00000528793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176859762	G	T	176859762	3	4	44	1	0	0	0	0	1	0	0	0	6813	1116	39	2	413	2	GRK6	5	176859762	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	36139556	176859762	4055498	37	6014										
CANX	821	genome.wustl.edu	37	chr5	179146670	179146670	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tttttcttttgtatttaaggGatgaagatgcccctgctaag	9	6	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr5:179146670G>A	ENST00000247461.4	+	9	1113	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CANX_ENST00000504734.1_Splice_Site_p.D305N|CANX_ENST00000415618.2_Splice_Site_p.D340N|CANX_ENST00000452673.2_Splice_Site_p.D305N|CANX_ENST00000512607.2_Splice_Site_p.D197N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	305	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GTATTTAAGGGATGAAGATGC	0.408																																																	0													59	61	60					5																	179146670		2203	4300	6503	SO:0001630	splice_region_variant	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.912-1G>A	5.37:g.179146670G>A			B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.D340N	ENST00000247461.4	37	c.1018	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.228210	0.95173	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	M	0.80332	2.49	0.80722	D	1	D;P;D	0.63880	0.993;0.932;0.993	D;P;D	0.67382	0.951;0.768;0.914	T	0.76077	-0.3091	10	0.56958	D	0.05	-29.0835	19.8724	0.96855	0.0:0.0:1.0:0.0	.	340;241;305	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	N	305;340;305;305;241;197;241	ENSP00000424063:D305N;ENSP00000394817:D340N;ENSP00000391646:D305N;ENSP00000247461:D305N;ENSP00000421107:D241N;ENSP00000423588:D197N	ENSP00000247461:D305N	D	+	1	0	CANX	179079276	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	GAT	CANX	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P		0.408	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649	Missense_Mutation	179146670	1	no_errors	ENST00000415618	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179146670	G	A	179146670	5	1	44	1	0	0	0	0	0	0	1	0	2623	1188	41	1	943	1	CANX	5	179146670	Splice_Site	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	2286908	179146670	1768590	38	6015										
PECI	10455	genome.wustl.edu	37	chr6	4130608	4130608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtgggcaggtaacattacctCagtgtttatggcatttttct	10	7	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:4130608C>T	ENST00000380118.3	-	4	535	c.499G>A	c.(499-501)Gag>Aag	p.E167K	ECI2_ENST00000380125.2_Missense_Mutation_p.E137K|ECI2_ENST00000465828.1_Missense_Mutation_p.E137K|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.E137K|C6orf201_ENST00000333388.5_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	167	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AACATTACCTCAGTGTTTATG	0.413																																																	0													168	144	152					6																	4130608		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.499G>A	6.37:g.4130608C>T	ENSP00000369461:p.Glu167Lys		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.E167K	ENST00000380118.3	37	c.499	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463806	0.26335	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;0.83	5.69	0.619	0.17630	Crotonase, core (1);	0.794386	0.12451	N	0.467725	T	0.32102	0.0818	L	0.46741	1.465	0.34517	D	0.707785	B	0.14438	0.01	B	0.16289	0.015	T	0.03025	-1.1081	10	0.25751	T	0.34	.	3.7781	0.08669	0.0729:0.2503:0.3181:0.3587	.	167	O75521	ECI2_HUMAN	K	167;137;137;137;214	ENSP00000369461:E167K;ENSP00000369468:E137K;ENSP00000354737:E137K;ENSP00000420309:E137K;ENSP00000417459:E214K	ENSP00000354737:E137K	E	-	1	0	ECI2	4075607	0.007000	0.16637	0.049000	0.19019	0.003000	0.03518	-0.043000	0.12043	0.066000	0.16515	-0.910000	0.02820	GAG	ECI2	-	pfam_Crotonase_core		0.413	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	C	NM_006117		4130608	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	missense	SNP	0.016	T	T	4130608	C	T	4130608	3	4	44	1	0	0	0	0	1	0	0	0	11740	835	29	1	713	1	PECI	6	4130608	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		4130608	166984459	39	6016										
LYRM4	57128	genome.wustl.edu	37	chr6	5144479	5144479	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cccgacttcctcctggcggcTgtgccttgctcagctacctg	10	17	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:5144479T>C	ENST00000330636.4	-	3	413				LYRM4_ENST00000464010.1_Silent_p.T75T|LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000480566.1_Intron	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4						small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TCCTGGCGGCTGTGCCTTGCT	0.547																																					NSCLC(130;1006 2426 17608 36797)												0													49	52	51					6																	5144479		692	1591	2283	SO:0001627	intron_variant	57128			AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"LYR motif containing"	21365	protein-coding gene	gene with protein product		613311	"chromosome 6 open reading frame 149"	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.208-34754A>G	6.37:g.5144479T>C			A8K543|Q5XKP1	Silent	SNP	pfam_Complex1_LYR	p.T75	ENST00000330636.4	37	c.225	CCDS4493.1	6																																																																																			LYRM4	-	NULL		0.547	LYRM4-001	KNOWN	basic|CCDS	protein_coding	LYRM4	HGNC	protein_coding	OTTHUMT00000353461.3	T	NM_020408		5144479	-1	no_errors	ENST00000464010	ensembl	human	putative	70_37	silent	SNP	0.000	C	C	5144479	T	C	5144479	1	2	44	0	1	0	0	0	0	0	0	0	9144	1567	55	5		5	LYRM4	6	5144479	Intron	SNP	T	TCGA-C5-A7CK-01A-11D-A32I-09	1013871	5144479	165970588	40	6017										
ZSCAN12	9753	genome.wustl.edu	37	chr6	28358451	28358451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttctctgatgctgaatgaggCtggtgattcctcggaaggca	13	8	1	4			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:28358451C>A	ENST00000361028.1	-	4	1761	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.S539I			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	539					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						CTGAATGAGGCTGGTGATTCC	0.488																																																	0													163	140	147					6																	28358451		692	1591	2283	SO:0001583	missense	9753			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1616G>T	6.37:g.28358451C>A	ENSP00000354305:p.Ser539Ile		O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S539I	ENST00000361028.1	37	c.1616		6	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054335	0.36277	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.15952	2.38;2.38	3.15	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	N	0.21508	0.67	0.09310	N	1	D;B	0.67145	0.996;0.267	D;B	0.63488	0.915;0.176	T	0.17228	-1.0376	9	0.62326	D	0.03	.	3.3262	0.07067	0.0:0.5258:0.2351:0.2391	.	539;539	A8K187;O43309	.;ZSC12_HUMAN	I	539	ENSP00000354305:S539I;ENSP00000380039:S539I	ENSP00000354305:S539I	S	-	2	0	ZSCAN12	28466430	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.677000	0.05215	1.585000	0.49928	0.650000	0.86243	AGC	ZSCAN12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	C	NM_014724		28358451	-1	no_errors	ENST00000361028	ensembl	human	known	70_37	missense	SNP	0.065	A	A	28358451	C	A	28358451	3	1	44	1	0	0	0	0	1	0	0	0	18258	797	28	4	223	4	ZSCAN12	6	28358451	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	23213972	28358451	142756616	41	6018										
ZFP57	4340	genome.wustl.edu	37	chr6	29641066	29641066	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgtatcttctggtggcgtttGagctcagactggtcccggaa	13	9	3	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:29641066G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Silent_p.L254L|ZFP57_ENST00000376883.1_Silent_p.L254L|ZFP57_ENST00000488757.1_Silent_p.L274L	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGTGGCGTTTGAGCTCAGACT	0.557																																																	0													131	142	138					6																	29641066		1314	2572	3886	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641066G>A			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L274	ENST00000376917.3	37	c.822	CCDS34370.1	6																																																																																			ZFP57	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000076160.3	G	NM_002433		29641066	-1	no_errors	ENST00000488757	ensembl	human	known	70_37	silent	SNP	0.373	A	A	29641066	G	A	29641066	1	1	44	0	1	0	0	0	0	0	0	0	17681	1277	45	1		1	ZFP57	6	29641066	IGR	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	1282615	29641066	141474001	42	6019										
NFKBIE	4794	genome.wustl.edu	37	chr6	44233388	44233388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccccgccccctccccgccccCggcgggcgcttccggaaaga	11	23	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:44233388C>T	ENST00000275015.5	-	1	112	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	38					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			tccccgcccccggcgggcgcT	0.736																																																	0													1	2	2					6																	44233388		1025	2159	3184	SO:0001583	missense	4794			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.113G>A	6.37:g.44233388C>T	ENSP00000275015:p.Arg38Gln		Q5T9V9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R38Q	ENST00000275015.5	37	c.113	CCDS34463.1	6	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350680	0.41599	.	.	ENSG00000146232	ENST00000275015	T	0.54479	0.57	4.95	3.11	0.35812	.	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.22342	N	0.999188	B	0.18610	0.029	B	0.18561	0.022	T	0.30416	-0.9979	9	0.25751	T	0.34	-36.1185	7.3071	0.26453	0.0:0.7345:0.1708:0.0947	.	38	O00221	IKBE_HUMAN	Q	38	ENSP00000275015:R38Q	ENSP00000275015:R38Q	R	-	2	0	NFKBIE	44341366	0.010000	0.17322	0.546000	0.28166	0.001000	0.01503	-0.290000	0.08354	0.560000	0.29169	-0.182000	0.12963	CGG	NFKBIE	-	NULL		0.736	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIE	HGNC	protein_coding	OTTHUMT00000040733.2	C			44233388	-1	no_errors	ENST00000275015	ensembl	human	known	70_37	missense	SNP	0.899	T	T	44233388	C	T	44233388	3	4	44	1	0	0	0	0	1	0	0	0	10404	652	23	2	1413	2	NFKBIE	6	44233388	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	14592322	44233388	126881679	43	6020										
COL12A1	1303	genome.wustl.edu	37	chr6	75865553	75865553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agatgttttgaggtttctagGagacttaaaccgagaagctg	12	5	1	4			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:75865553G>A	ENST00000322507.8	-	16	3577	c.3268C>T	c.(3268-3270)Cct>Tct	p.P1090S	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1090S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1090S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1090	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGTTTCTAGGAGACTTAAAC	0.418																																																	0													83	84	84					6																	75865553		1815	4074	5889	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3268C>T	6.37:g.75865553G>A	ENSP00000325146:p.Pro1090Ser		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P1090S	ENST00000322507.8	37	c.3268	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962054	0.74016	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.72615	-0.67;-0.67;-0.67	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063724	0.64402	D	0.000010	D	0.87075	0.6087	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87180	0.2227	10	0.46703	T	0.11	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	1090	Q99715	COCA1_HUMAN	S	1090	ENSP00000325146:P1090S;ENSP00000412864:P1090S;ENSP00000421216:P1090S	ENSP00000325146:P1090S	P	-	1	0	COL12A1	75922273	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	9.420000	0.97426	2.831000	0.97527	0.650000	0.86243	CCT	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75865553	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75865553	G	A	75865553	3	1	44	1	0	0	0	0	1	0	0	0	3674	1174	41	1	6127	1	COL12A1	6	75865553	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	31632165	75865553	95249514	44	6021										
MDN1	23195	genome.wustl.edu	37	chr6	90455255	90455255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tggagaaaagagattgaggaCacaattttttcttgaaatgt	10	3	1	4			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr6:90455255C>T	ENST00000369393.3	-	28	4110	c.3995G>A	c.(3994-3996)tGt>tAt	p.C1332Y	MDN1_ENST00000428876.1_Missense_Mutation_p.C1332Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1332					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGATTGAGGACACAATTTTTT	0.393																																																	0													85	86	86					6																	90455255		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3995G>A	6.37:g.90455255C>T	ENSP00000358400:p.Cys1332Tyr		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.C1332Y	ENST00000369393.3	37	c.3995	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465123	0.26335	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02974	4.09;4.09	6.07	5.21	0.72293	.	0.288789	0.41097	D	0.000955	T	0.00784	0.0026	L	0.31294	0.92	0.30736	N	0.746645	B	0.12630	0.006	B	0.06405	0.002	T	0.47018	-0.9149	10	0.10377	T	0.69	.	9.3759	0.38283	0.0:0.7775:0.0:0.2225	.	1332	Q9NU22	MDN1_HUMAN	Y	1332	ENSP00000358400:C1332Y;ENSP00000413970:C1332Y	ENSP00000358400:C1332Y	C	-	2	0	MDN1	90511976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.952000	0.56691	1.584000	0.49913	0.655000	0.94253	TGT	MDN1	-	pirsf_Midasin		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90455255	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.995	T	T	90455255	C	T	90455255	3	4	44	1	0	0	0	0	1	0	0	0	9438	478	17	4	13095	4	MDN1	6	90455255	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	14589702	90455255	80659812	45	6022										
UPP1	7378	genome.wustl.edu	37	chr7	48146627	48146627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctgtgttctgcagagctgagCgagttcaccacagtggtggg	15	9	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr7:48146627C>T	ENST00000331803.4	+	8	1217	c.594C>T	c.(592-594)agC>agT	p.S198S	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Silent_p.S61S|UPP1_ENST00000395564.4_Silent_p.S198S|UPP1_ENST00000341253.4_Silent_p.S198S			Q16831	UPP1_HUMAN	uridine phosphorylase 1	198					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.S198S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	CAGAGCTGAGCGAGTTCACCA	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)											123	112	116					7																	48146627		2203	4300	6503	SO:0001819	synonymous_variant	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.594C>T	7.37:g.48146627C>T			D3DVM4|Q15362	Silent	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.S198	ENST00000331803.4	37	c.594	CCDS5507.1	7																																																																																			UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk		0.552	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1	C	NM_003364		48146627	1	no_errors	ENST00000331803	ensembl	human	known	70_37	silent	SNP	0.001	T	T	48146627	C	T	48146627	2	4	44	1	0	0	0	0	0	0	0	1	17043	767	27	2		2	UPP1	7	48146627	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		48146627	110992036	46	6023										
GBAS	2631	genome.wustl.edu	37	chr7	56066732	56066732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caggaaatggaatccagaatCatgatcccactgaagacctc	8	11	1	4			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr7:56066732C>G	ENST00000322090.3	+	10	857	c.828C>G	c.(826-828)atC>atG	p.I276M	GBAS_ENST00000446778.1_Missense_Mutation_p.I237M	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	276					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATCCAGAATCATGATCCCAC	0.368																																																	0													146	130	135					7																	56066732		2203	4300	6503	SO:0001583	missense	2631			AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.828C>G	7.37:g.56066732C>G	ENSP00000313050:p.Ile276Met		C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.I276M	ENST00000322090.3	37	c.828	CCDS5521.1	7	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288986	0.59976	.	.	ENSG00000146729	ENST00000322090;ENST00000446778	T;T	0.58940	0.3;0.3	5.83	4.02	0.46733	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.92459	3.31	0.54753	D	0.999986	D;D	0.76494	0.999;0.987	D;P	0.77004	0.989;0.908	T	0.78140	-0.2320	10	0.87932	D	0	-16.2734	6.6411	0.22909	0.1442:0.7078:0.0:0.148	.	237;276	C9IYJ3;O75323	.;NIPS2_HUMAN	M	276;237	ENSP00000313050:I276M;ENSP00000406855:I237M	ENSP00000313050:I276M	I	+	3	3	GBAS	56034226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.349000	0.33998	0.802000	0.34089	0.655000	0.94253	ATC	GBAS	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.368	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBAS	HGNC	protein_coding	OTTHUMT00000251524.1	C	NM_001483		56066732	1	no_errors	ENST00000322090	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56066732	C	G	56066732	3	3	44	1	0	0	0	0	1	0	0	0	6288	816	29	1	866	1	GBAS	7	56066732	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	7920105	56066732	103071931	47	6024										
TSC22D4	81628	genome.wustl.edu	37	chr7	100075164	100075164	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agctggcccagtcccccagtGaaggagcgggcctgaggtcc	15	14	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr7:100075164G>T	ENST00000300181.2	-	2	1252	c.498C>A	c.(496-498)ttC>ttA	p.F166L	TSC22D4_ENST00000496728.1_5'Flank|TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	166					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCCCAGTGAAGGAGCGGG	0.711																																																	0													10	12	11					7																	100075164		2079	4117	6196	SO:0001583	missense	81628			BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.498C>A	7.37:g.100075164G>T	ENSP00000300181:p.Phe166Leu		A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.F166L	ENST00000300181.2	37	c.498	CCDS5695.1	7	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074894	0.36566	.	.	ENSG00000166925	ENST00000300181	.	.	.	5.01	0.826	0.18829	.	0.512211	0.16465	N	0.213203	T	0.42562	0.1208	L	0.44542	1.39	0.44937	D	0.997951	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.13124	-1.0521	8	.	.	.	-0.1807	6.3949	0.21607	0.0901:0.0:0.3732:0.5367	.	166;166	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	L	166	.	.	F	-	3	2	TSC22D4	99913100	0.383000	0.25156	0.940000	0.37924	0.914000	0.54420	-0.239000	0.08965	0.083000	0.17047	0.298000	0.19748	TTC	TSC22D4	-	NULL		0.711	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D4	HGNC	protein_coding	OTTHUMT00000316970.1	G	NM_030935		100075164	-1	no_errors	ENST00000300181	ensembl	human	known	70_37	missense	SNP	0.614	T	T	100075164	G	T	100075164	3	4	44	1	0	0	0	0	1	0	0	0	16641	1281	45	3	705	3	TSC22D4	7	100075164	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	44008432	100075164	59063499	48	6025										
COLEC10	10584	genome.wustl.edu	37	chr8	120118095	120118095	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	actacatcgtgcaggaagagAagaactacagggaatcccta	10	9	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr8:120118095A>T	ENST00000332843.2	+	6	540	c.499A>T	c.(499-501)Aag>Tag	p.K167*		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	167	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GCAGGAAGAGAAGAACTACAG	0.468																																																	0													84	65	71					8																	120118095		2203	4300	6503	SO:0001587	stop_gained	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.499A>T	8.37:g.120118095A>T	ENSP00000332723:p.Lys167*		Q3SYH6|Q6UW19	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K167*	ENST00000332843.2	37	c.499	CCDS6327.1	8	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659171	0.88154	.	.	ENSG00000184374	ENST00000332843	.	.	.	5.39	5.39	0.77823	.	0.056595	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2651	11.6719	0.51406	0.852:0.1479:0.0:0.0	.	.	.	.	X	167	.	ENSP00000332723:K167X	K	+	1	0	COLEC10	120187276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.721000	0.68477	2.174000	0.68829	0.454000	0.30748	AAG	COLEC10	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.468	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC10	HGNC	protein_coding	OTTHUMT00000381225.1	A			120118095	1	no_errors	ENST00000332843	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	120118095	A	T	120118095	4	4	44	1	0	0	0	0	0	1	0	0	3715	247	9	5	521	5	COLEC10	8	120118095	Nonsense_Mutation	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09		120118095	26245927	49	6026										
SCRIB	23513	genome.wustl.edu	37	chr8	144896051	144896051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgcagaacttgatgctctccGggatctcagggatatctgtc	11	10	3	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr8:144896051G>A	ENST00000320476.3	-	3	299	c.293C>T	c.(292-294)cCg>cTg	p.P98L	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.P98L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P17L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	98	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GATGCTCTCCGGGATCTCAGG	0.637																																					Pancreas(51;966 1133 10533 14576 29674)												0													43	43	43					8																	144896051		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.293C>T	8.37:g.144896051G>A	ENSP00000322938:p.Pro98Leu		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.P98L	ENST00000320476.3	37	c.293	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	g	24.2	4.510042	0.85282	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;D;T	0.85258	1.73;-1.96;1.41	4.45	4.45	0.53987	.	.	.	.	.	D	0.94768	0.8311	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96523	0.9387	9	0.87932	D	0	.	16.0386	0.80648	0.0:0.0:1.0:0.0	.	98;98	Q14160;Q14160-3	SCRIB_HUMAN;.	L	98;98;17	ENSP00000349486:P98L;ENSP00000322938:P98L;ENSP00000366756:P17L	ENSP00000322938:P98L	P	-	2	0	SCRIB	144968039	1.000000	0.71417	0.939000	0.37840	0.602000	0.36980	9.109000	0.94291	2.197000	0.70478	0.558000	0.71614	CCG	SCRIB	-	smart_Leu-rich_rpt_typical-subtyp		0.637	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144896051	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144896051	G	A	144896051	3	1	44	1	0	0	0	0	1	0	0	0	13967	1116	39	2	4814	2	SCRIB	8	144896051	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	24777956	144896051	1467971	50	6027										
KIAA2026	158358	genome.wustl.edu	37	chr9	5921188	5921188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttttgtcttctccttttgggGttacattttgtaatatgtta	7	5	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr9:5921188G>A	ENST00000399933.3	-	8	4807	c.4808C>T	c.(4807-4809)aCc>aTc	p.T1603I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1573I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1603										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCCTTTTGGGGTTACATTTTG	0.348																																																	0													148	135	139					9																	5921188		1853	4100	5953	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4808C>T	9.37:g.5921188G>A	ENSP00000382815:p.Thr1603Ile		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.T1603I	ENST00000399933.3	37	c.4808		9	.	.	.	.	.	.	.	.	.	.	G	4.193	0.034475	0.08101	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.13	2.24	0.28232	.	0.571033	0.16887	N	0.195467	T	0.25195	0.0612	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15037	-1.0451	9	0.38643	T	0.18	1.5865	4.3456	0.11131	0.3321:0.0:0.5161:0.1518	.	1603	Q5HYC2	K2026_HUMAN	I	1603;1573	.	ENSP00000370870:T1573I	T	-	2	0	KIAA2026	5911188	0.994000	0.37717	0.833000	0.33012	0.329000	0.28539	1.758000	0.38410	0.307000	0.22880	-0.225000	0.12378	ACC	KIAA2026	-	NULL		0.348	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	G	NM_001017969		5921188	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	0.154	A	A	5921188	G	A	5921188	3	1	44	1	0	0	0	0	1	0	0	0	8290	1261	44	4	1507	4	KIAA2026	9	5921188	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		5921188	135292243	51	6028										
HNRNPK	3190	genome.wustl.edu	37	chr9	86585658	86585658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttaaagatacttacatctttGggaatagttacttgtgtagt	8	4	1	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr9:86585658G>A	ENST00000376264.2	-	15	1443	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	HNRNPK_ENST00000376263.3_Silent_p.P395P|HNRNPK_ENST00000360384.5_Silent_p.P395P|MIR7-1_ENST00000384871.1_RNA|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Silent_p.P395P|HNRNPK_ENST00000351839.3_Silent_p.P395P	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	395	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTACATCTTTGGGAATAGTTA	0.318																																																	0													70	74	73					9																	86585658		2203	4299	6502	SO:0001819	synonymous_variant	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1185C>T	9.37:g.86585658G>A			Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.P395	ENST00000376264.2	37	c.1185	CCDS6667.1	9																																																																																			HNRNPK	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.318	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	G			86585658	-1	no_errors	ENST00000376263	ensembl	human	known	70_37	silent	SNP	1.000	A	A	86585658	G	A	86585658	2	1	44	1	0	0	0	0	0	0	0	1	7289	1335	47	4		4	HNRNPK	9	86585658	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	80664470	86585658	54627773	52	6029										
CDC14B	8555	genome.wustl.edu	37	chr9	99266041	99266041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tcacaggtttttacttaacgCaagactgttttagtccttga	7	8	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr9:99266041C>A	ENST00000375241.1	-	14	1942	c.1491G>T	c.(1489-1491)ttG>ttT	p.L497F	CDC14B_ENST00000375240.3_Missense_Mutation_p.L458F|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.L460F|CDC14B_ENST00000463569.1_3'UTR	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	497					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTACTTAACGCAAGACTGTTT	0.378																																																	0													82	79	80					9																	99266041		2203	4300	6503	SO:0001583	missense	8555			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1491G>T	9.37:g.99266041C>A	ENSP00000364389:p.Leu497Phe		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L497F	ENST00000375241.1	37	c.1491	CCDS6722.1	9	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383380	0.61845	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.93247	-3.19;-3.08;-3.12	4.88	2.0	0.26442	.	0.663319	0.13071	N	0.416136	D	0.91740	0.7388	N	0.14661	0.345	0.80722	D	1	P;D;D	0.71674	0.874;0.998;0.998	B;D;D	0.78314	0.347;0.991;0.991	D	0.87530	0.2452	10	0.56958	D	0.05	-18.2259	7.4736	0.27363	0.0:0.725:0.0:0.275	.	458;497;460	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	F	497;458;460	ENSP00000364389:L497F;ENSP00000364388:L458F;ENSP00000364390:L460F	ENSP00000364388:L458F	L	-	3	2	CDC14B	98305862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.658000	0.37376	0.246000	0.21394	0.557000	0.71058	TTG	CDC14B	-	NULL		0.378	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	C	NM_033331		99266041	-1	no_errors	ENST00000375241	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99266041	C	A	99266041	3	1	44	1	0	0	0	0	1	0	0	0	3062	709	25	4	9	4	CDC14B	9	99266041	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	12680383	99266041	41947390	53	6030										
COL27A1	85301	genome.wustl.edu	37	chr9	117063996	117063996	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cagagggcggcccggcccccCggtaggtaactgagtgctgg	17	13	0	2	rs145134644		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr9:117063996C>T	ENST00000356083.3	+	55	5235	c.4844C>T	c.(4843-4845)cCg>cTg	p.P1615L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1615	Collagen-like 16.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCGGCCCCCCGGTAGGTAAC	0.622																																																	0								C	LEU/PRO	0,4406		0,0,2203	27	31	29		4844	5.5	1	9	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	COL27A1	NM_032888.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1615/1861	117063996	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4845+1C>T	9.37:g.117063996C>T			Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P1615L	ENST00000356083.3	37	c.4844	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315403	0.60524	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.94092	-3.35	5.47	5.47	0.80525	.	.	.	.	.	D	0.97498	0.9181	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97669	1.0165	9	0.46703	T	0.11	.	14.8145	0.70020	0.0:1.0:0.0:0.0	.	1615	Q8IZC6	CORA1_HUMAN	L	1615	ENSP00000348385:P1615L	ENSP00000348385:P1615L	P	+	2	0	COL27A1	116103817	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.174000	0.65015	2.570000	0.86706	0.462000	0.41574	CCG	COL27A1	-	pfam_Collagen		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888	Missense_Mutation	117063996	1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117063996	C	T	117063996	5	4	44	1	0	0	0	0	0	0	1	0	3690	666	23	2	5062	2	COL27A1	9	117063996	Splice_Site	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	17797955	117063996	24149435	54	6031										
ZER1	10444	genome.wustl.edu	37	chr9	131497626	131497626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cactcacggtagacagacacGaggttatacagggcccaggt	12	11	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr9:131497626G>A	ENST00000291900.2	-	14	2533	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	RP11-545E17.3_ENST00000443631.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	709					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						AGACAGACACGAGGTTATACA	0.547																																																	0													83	71	75					9																	131497626		2203	4300	6503	SO:0001819	synonymous_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2127C>T	9.37:g.131497626G>A			O00156|Q5T272|Q5T273	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.L709	ENST00000291900.2	37	c.2127	CCDS6910.1	9																																																																																			ZER1	-	superfamily_ARM-type_fold		0.547	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	G	NM_006336		131497626	-1	no_errors	ENST00000291900	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131497626	G	A	131497626	2	1	44	1	0	0	0	0	0	0	0	1	17655	1045	37	1		1	ZER1	9	131497626	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	14433630	131497626	9715805	55	6032										
KIAA1217	56243	genome.wustl.edu	37	chr10	24835135	24835135	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttctcctgcctcctccgtctCactgaatcaaggtgccaagg	8	15	3	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr10:24835135C>G	ENST00000376454.3	+	21	5744	c.5714C>G	c.(5713-5715)tCa>tGa	p.S1905*	KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.S1311*|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.S1336*|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.S1226*	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1905	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						tcctccgtctcACTGAATCAA	0.542																																																	0													97	85	89					10																	24835135		2203	4300	6503	SO:0001587	stop_gained	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5714C>G	10.37:g.24835135C>G	ENSP00000365637:p.Ser1905*		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	pfam_AIP3_C	p.S1905*	ENST00000376454.3	37	c.5714	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.247267	0.99113	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	.	.	.	4.51	4.51	0.55191	.	0.085303	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.8539	0.86000	0.0:1.0:0.0:0.0	.	.	.	.	X	1226;1311;1905;1336;1494	.	ENSP00000365635:S1336X	S	+	2	0	KIAA1217	24875141	0.622000	0.27085	0.011000	0.14972	0.481000	0.33189	2.327000	0.43858	2.061000	0.61500	0.655000	0.94253	TCA	KIAA1217	-	NULL		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	C	NM_019590		24835135	1	no_errors	ENST00000376454	ensembl	human	known	70_37	nonsense	SNP	0.924	G	G	24835135	C	G	24835135	4	3	44	1	0	0	0	0	0	1	0	0	8236	838	29	1	5796	1	KIAA1217	10	24835135	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		24835135	110699612	56	6033										
DDX50	79009	genome.wustl.edu	37	chr10	70670829	70670829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	aatctcattttacaggtcgaGgggtaacatatctctttcct	7	9	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr10:70670829G>A	ENST00000373585.3	+	4	573	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	156						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACAGGTCGAGGGGTAACATA	0.318																																																	0													106	110	109					10																	70670829		2203	4300	6503	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.466G>A	10.37:g.70670829G>A	ENSP00000362687:p.Gly156Arg		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G156R	ENST00000373585.3	37	c.466	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492843	0.84962	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.35605	1.3	5.22	5.22	0.72569	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);	0.194707	0.56097	N	0.000040	T	0.41213	0.1149	L	0.34521	1.04	0.80722	D	1	P;B	0.52842	0.956;0.169	P;B	0.49829	0.623;0.327	T	0.36578	-0.9742	10	0.87932	D	0	-8.4298	19.2003	0.93710	0.0:0.0:1.0:0.0	.	156;156	Q9BQ39;B4DED6	DDX50_HUMAN;.	R	156	ENSP00000362687:G156R	ENSP00000362687:G156R	G	+	1	0	DDX50	70340835	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.398000	0.97281	2.598000	0.87819	0.485000	0.47835	GGG	DDX50	-	smart_Helicase_ATP-bd		0.318	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	G	NM_024045		70670829	1	no_errors	ENST00000373585	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70670829	G	A	70670829	3	1	44	1	0	0	0	0	1	0	0	0	4373	1000	35	4	480	4	DDX50	10	70670829	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	45835694	70670829	64863918	57	6034										
SFTPA1	653509	genome.wustl.edu	37	chr10	81373001	81373001	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cactccacgactttagacatCaaatcctgcagacaagggga	8	12	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr10:81373001C>G	ENST00000398636.3	+	5	487	c.349C>G	c.(349-351)Caa>Gaa	p.Q117E	SFTPA1_ENST00000372313.5_Missense_Mutation_p.Q58E|SFTPA1_ENST00000428376.2_Missense_Mutation_p.Q117E|SFTPA1_ENST00000419470.2_Missense_Mutation_p.Q132E|SFTPA1_ENST00000372308.3_Missense_Mutation_p.Q117E	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	117					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTTTAGACATCAAATCCTGCA	0.562																																																	0													206	208	207					10																	81373001		2203	4296	6499	SO:0001583	missense	653509			BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.349C>G	10.37:g.81373001C>G	ENSP00000381633:p.Gln117Glu		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q132E	ENST00000398636.3	37	c.394	CCDS44445.1	10	.	.	.	.	.	.	.	.	.	.	.	3.838	-0.034454	0.07543	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	D;D;D;T;D;D;D	0.88124	-2.13;-2.1;-2.1;2.94;-2.05;-2.34;-2.34	2.71	1.75	0.24633	.	0.424841	0.22940	N	0.053794	T	0.78874	0.4352	L	0.49126	1.545	0.24819	N	0.992598	B;B;B	0.25563	0.061;0.101;0.129	B;B;B	0.22753	0.018;0.041;0.018	T	0.60806	-0.7190	10	0.15952	T	0.53	-1.4991	6.6945	0.23191	0.281:0.719:0.0:0.0	.	117;132;117	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	E	117;117;117;58;132;117;117;117	ENSP00000361382:Q117E;ENSP00000381633:Q117E;ENSP00000411102:Q117E;ENSP00000361387:Q58E;ENSP00000397082:Q132E;ENSP00000395527:Q117E;ENSP00000401649:Q117E	ENSP00000361382:Q117E	Q	+	1	0	SFTPA1	81043007	0.799000	0.28903	0.738000	0.30950	0.436000	0.31835	0.643000	0.24750	0.651000	0.30788	0.448000	0.29417	CAA	SFTPA1	-	NULL		0.562	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFTPA1	HGNC	protein_coding		C	NM_005411		81373001	1	no_errors	ENST00000419470	ensembl	human	known	70_37	missense	SNP	0.836	G	G	81373001	C	G	81373001	3	3	44	1	0	0	0	0	1	0	0	0	14219	827	29	1	408	1	SFTPA1	10	81373001	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	10702172	81373001	54161746	58	6035										
XPNPEP1	7511	genome.wustl.edu	37	chr10	111652824	111652824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccgacagtcacatggagcaaTatactcactctggaaaacaa	7	11	3	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr10:111652824T>C	ENST00000502935.1	-	4	375	c.256A>G	c.(256-258)Att>Gtt	p.I86V	XPNPEP1_ENST00000430337.1_Intron|XPNPEP1_ENST00000369683.1_Intron|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.I86V|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.I43V					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CATGGAGCAATATACTCACTC	0.512																																																	0													86	75	79					10																	111652824		2203	4300	6503	SO:0001583	missense	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.256A>G	10.37:g.111652824T>C	ENSP00000421566:p.Ile86Val			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I86V	ENST00000502935.1	37	c.256	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568127	0.45798	.	.	ENSG00000108039	ENST00000502935;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.77	5.77	0.91146	Creatinase (1);	0.048581	0.85682	D	0.000000	T	0.34745	0.0908	N	0.05592	-0.015	0.45330	D	0.998325	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.17722	0.008;0.004;0.019	T	0.28396	-1.0045	9	0.05721	T	0.95	-15.8611	14.6735	0.68961	0.0:0.0:0.0:1.0	.	86;86;43	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	V	86;86;43;43;43	.	ENSP00000324011:I86V	I	-	1	0	XPNPEP1	111642814	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.816000	0.62642	2.200000	0.70718	0.459000	0.35465	ATT	XPNPEP1	-	pfam_Creatinase		0.512	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	T			111652824	-1	no_errors	ENST00000502935	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111652824	T	C	111652824	3	2	44	1	0	0	0	0	1	0	0	0	17473	1406	49	5	1816	5	XPNPEP1	10	111652824	Missense_Mutation	SNP	T	TCGA-C5-A7CK-01A-11D-A32I-09	30279823	111652824	23881923	59	6036										
C10orf137	26098	genome.wustl.edu	37	chr10	127414249	127414249	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tttttatttctggtttggccAgtatcaatggtgatggagcc	11	6	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr10:127414249A>G	ENST00000356792.4	+	6	867		c.e6-1		C10orf137_ENST00000337623.3_Splice_Site	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN							regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGTTTGGCCAGTATCAATGG	0.423																																																	0													54	52	52					10																	127414249		2203	4300	6503	SO:0001630	splice_region_variant	26098																														ENST00000356792.4:c.636-1A>G	10.37:g.127414249A>G			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	-	e6-2	ENST00000356792.4	37	c.636-2	CCDS55733.1	10	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804168	0.70682	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9034	0.70699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf137	127404239	1.000000	0.71417	0.959000	0.39883	0.963000	0.63663	8.402000	0.90205	2.177000	0.69029	0.528000	0.53228	.	C10orf137	-	-		0.423	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	C10orf137	HGNC	protein_coding	OTTHUMT00000388539.1	A		Intron	127414249	1	no_errors	ENST00000356792	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	127414249	A	G	127414249	5	3	44	1	0	0	0	0	0	0	1	0	1598	202	7	5	656	5	C10orf137	10	127414249	Splice_Site	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	15761425	127414249	8120498	60	6037										
ADAM12	8038	genome.wustl.edu	37	chr10	127782552	127782552	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agatggaagcaatggtacttGcccggtggaagcgttcatga	14	7	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr10:127782552G>T	ENST00000368679.4	-	11	1464		c.e11+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AATGGTACTTGCCCGGTGGAA	0.512																																																	0													208	183	191					10																	127782552		2203	4300	6503	SO:0001630	splice_region_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1154+1C>A	10.37:g.127782552G>T			O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Splice_Site	SNP	-	e11+2	ENST00000368679.4	37	c.1154+2	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584339	0.46110	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	4.79	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4146	0.16365	0.5931:0.0:0.4069:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM12	127772542	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.341000	0.59335	0.603000	0.29913	0.455000	0.32223	.	ADAM12	-	-		0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	G		Intron	127782552	-1	no_errors	ENST00000368679	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	127782552	G	T	127782552	5	4	44	1	0	0	0	0	0	0	1	0	236	1333	46	4	1733	4	ADAM12	10	127782552	Splice_Site	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	368303	127782552	7752195	61	6038										
TUB	7275	genome.wustl.edu	37	chr11	8117170	8117170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cggcagctggtgggggcgaaCggcccagcgggcaggatctc	19	12	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:8117170C>T	ENST00000299506.2	+	5	672	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	TUB_ENST00000534099.1_Missense_Mutation_p.R181W|TUB_ENST00000305253.4_Missense_Mutation_p.R230W	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	175					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TGGGGGCGAACGGCCCAGCGG	0.637																																																	0													21	24	23					11																	8117170		2198	4295	6493	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.523C>T	11.37:g.8117170C>T	ENSP00000299506:p.Arg175Trp		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.R230W	ENST00000299506.2	37	c.688	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689295	0.48097	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.85861	-2.02;-2.04;-2.01	5.38	5.38	0.77491	Tubby, N-terminal (1);	1.074330	0.06950	N	0.814481	D	0.84754	0.5542	L	0.29908	0.895	0.09310	N	1	P;P;D	0.53885	0.807;0.807;0.963	B;B;P	0.46975	0.296;0.296;0.533	T	0.78112	-0.2331	10	0.72032	D	0.01	-13.4967	17.8888	0.88865	0.0:1.0:0.0:0.0	.	181;175;230	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	W	181;230;175	ENSP00000434400:R181W;ENSP00000305426:R230W;ENSP00000299506:R175W	ENSP00000299506:R175W	R	+	1	2	TUB	8073746	0.095000	0.21747	0.006000	0.13384	0.602000	0.36980	3.332000	0.52083	2.531000	0.85337	0.561000	0.74099	CGG	TUB	-	prints_Tubby_N		0.637	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	C	NM_003320		8117170	1	no_errors	ENST00000305253	ensembl	human	known	70_37	missense	SNP	0.051	T	T	8117170	C	T	8117170	3	4	44	1	0	0	0	0	1	0	0	0	16773	527	19	2	752	2	TUB	11	8117170	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		8117170	126889346	62	6039										
PAMR1	25891	genome.wustl.edu	37	chr11	35454018	35454018	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctgaccagtcccatcagatgCcagcgtggctcaggagatgc	12	13	2	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:35454018C>T	ENST00000378880.2	-	11	2494	c.2049G>A	c.(2047-2049)tgG>tgA	p.W683*	PAMR1_ENST00000532848.1_Nonsense_Mutation_p.W643*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.W700*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.W572*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	683	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CCATCAGATGCCAGCGTGGCT	0.562																																																	0													83	79	80					11																	35454018		2202	4298	6500	SO:0001587	stop_gained	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2049G>A	11.37:g.35454018C>T	ENSP00000368158:p.Trp683*		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.W700*	ENST00000378880.2	37	c.2100	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	41	8.731175	0.98931	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	.	.	.	X	700;683;572;643;660	.	ENSP00000278360:W700X	W	-	3	0	PAMR1	35410594	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.773000	0.85462	2.656000	0.90262	0.561000	0.74099	TGG	PAMR1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.562	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	C	NM_015430		35454018	-1	no_errors	ENST00000278360	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	35454018	C	T	35454018	4	4	44	1	0	0	0	0	0	1	0	0	11437	740	26	4	117	4	PAMR1	11	35454018	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	27336848	35454018	99552498	63	6040										
PRDM11	56981	genome.wustl.edu	37	chr11	45203391	45203391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tatggtgacggtggtgaagaCggaggtctgctcaccactcc	14	10	2	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:45203391C>T	ENST00000530656.1	+	2	176	c.176C>T	c.(175-177)aCg>aTg	p.T59M	PRDM11_ENST00000424263.2_Missense_Mutation_p.T25M|PRDM11_ENST00000263765.4_Missense_Mutation_p.T59M			Q9NQV5	PRD11_HUMAN	PR domain containing 11	59				KTEVCSPLRD -> NPS (in Ref. 1; AAF87244). {ECO:0000305}.			methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GTGGTGAAGACGGAGGTCTGC	0.622																																					NSCLC(118;1511 1736 6472 36603 43224)												0													83	68	73					11																	45203391		2203	4299	6502	SO:0001583	missense	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.176C>T	11.37:g.45203391C>T	ENSP00000435976:p.Thr59Met		Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.T59M	ENST00000530656.1	37	c.176		11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942844	0.73672	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000003	T	0.58708	0.2141	L	0.36672	1.1	0.34090	D	0.660586	D	0.89917	1.0	D	0.87578	0.998	T	0.69971	-0.5000	10	0.87932	D	0	-14.3311	13.6261	0.62165	0.0:0.8448:0.1552:0.0	.	59	Q9NQV5	PRD11_HUMAN	M	59;59;25;25	ENSP00000263765:T59M;ENSP00000435976:T59M;ENSP00000431898:T25M;ENSP00000394314:T25M	ENSP00000263765:T59M	T	+	2	0	PRDM11	45159967	0.995000	0.38212	0.994000	0.49952	0.991000	0.79684	3.190000	0.50973	2.472000	0.83506	0.491000	0.48974	ACG	PRDM11	-	NULL		0.622	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	C	NM_020229		45203391	1	no_errors	ENST00000263765	ensembl	human	known	70_37	missense	SNP	0.998	T	T	45203391	C	T	45203391	3	4	44	1	0	0	0	0	1	0	0	0	12479	536	19	2	182	2	PRDM11	11	45203391	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	9749373	45203391	89803125	64	6041										
CHST1	8534	genome.wustl.edu	37	chr11	45671730	45671730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cgccagagccggtacgtgtcGcggaaggtctcgctgcgcga	16	13	1	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:45671730G>A	ENST00000308064.2	-	4	1414	c.744C>T	c.(742-744)cgC>cgT	p.R248R	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	248					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTACGTGTCGCGGAAGGTCT	0.642																																																	0													62	57	59					11																	45671730		2203	4299	6502	SO:0001819	synonymous_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.744C>T	11.37:g.45671730G>A			D3DQP2	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.R248	ENST00000308064.2	37	c.744	CCDS7913.1	11																																																																																			CHST1	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.642	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	G	NM_003654		45671730	-1	no_errors	ENST00000308064	ensembl	human	known	70_37	silent	SNP	0.392	A	A	45671730	G	A	45671730	2	1	44	1	0	0	0	0	0	0	0	1	3402	1074	38	2		2	CHST1	11	45671730	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	468339	45671730	89334786	65	6042										
OR8K5	219453	genome.wustl.edu	37	chr11	55927228	55927228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctatttcctgtgcatttgagCaaagcataggtagcaaagga	10	7	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:55927228C>A	ENST00000313447.1	-	1	565	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGCATTTGAGCAAAGCATAGG	0.348																																																	0													87	89	88					11																	55927228		2201	4296	6497	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.566G>T	11.37:g.55927228C>A	ENSP00000323853:p.Cys189Phe		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C189F	ENST00000313447.1	37	c.566	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443790	0.43429	.	.	ENSG00000181752	ENST00000313447	T	0.00460	7.27	4.07	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.01730	0.0055	H	0.97806	4.08	0.38074	D	0.936469	P	0.47677	0.899	P	0.53266	0.722	T	0.14924	-1.0455	10	0.87932	D	0	.	9.6135	0.39676	0.0:0.8384:0.0:0.1616	.	189	Q8NH50	OR8K5_HUMAN	F	189	ENSP00000323853:C189F	ENSP00000323853:C189F	C	-	2	0	OR8K5	55683804	0.402000	0.25311	0.908000	0.35775	0.829000	0.46940	1.122000	0.31295	0.472000	0.27344	-1.079000	0.02226	TGC	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.348	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55927228	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55927228	C	A	55927228	3	1	44	1	0	0	0	0	1	0	0	0	11269	710	25	4	360	4	OR8K5	11	55927228	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	10255498	55927228	79079288	66	6043										
APLNR	187	genome.wustl.edu	37	chr11	57003977	57003977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctccaagtccccggtggtgcGtaacaccatgacaggcatgg	12	13	0	1	rs373170562		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:57003977G>A	ENST00000606794.1	-	1	698	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	168					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCGGTGGTGCGTAACACCATG	0.642																																																	0								G	CYS/ARG	0,4400		0,0,2200	71	60	64		502	5.2	1	11		64	1,8585	1.2+/-3.3	0,1,4292	no	missense	APLNR	NM_005161.4	180	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	168/381	57003977	1,12985	2200	4293	6493	SO:0001583	missense	187			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.502C>T	11.37:g.57003977G>A	ENSP00000475344:p.Arg168Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.R168C	ENST00000606794.1	37	c.502	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790650	0.70452	0.0	1.16E-4	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.38401	1.14	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77563	-0.2541	10	0.56958	D	0.05	-15.6458	18.4449	0.90680	0.0:0.0:1.0:0.0	.	168	P35414	APJ_HUMAN	C	168;49;87	ENSP00000257254:R168C	ENSP00000257254:R168C	R	-	1	0	APLNR	56760553	1.000000	0.71417	0.971000	0.41717	0.939000	0.58152	7.415000	0.80131	2.448000	0.82819	0.555000	0.69702	CGC	APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.642	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	G	NM_005161		57003977	-1	no_errors	ENST00000257254	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57003977	G	A	57003977	3	1	44	1	0	0	0	0	1	0	0	0	777	1145	40	2	644	2	APLNR	11	57003977	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	1076749	57003977	78002539	67	6044										
OR10W1	81341	genome.wustl.edu	37	chr11	58034493	58034493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	actgttcctcagggcatagaTaagtgggttgagcagtgggg	16	6	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:58034493T>G	ENST00000395079.2	-	1	1239	c.838A>C	c.(838-840)Atc>Ctc	p.I280L		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AGGGCATAGATAAGTGGGTTG	0.537																																																	0													107	100	102					11																	58034493		2201	4295	6496	SO:0001583	missense	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.838A>C	11.37:g.58034493T>G	ENSP00000378516:p.Ile280Leu		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I280L	ENST00000395079.2	37	c.838	CCDS7968.1	11	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278105	0.59758	.	.	ENSG00000172772	ENST00000395079	T	0.51817	0.69	5.7	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.48429	0.1499	M	0.78637	2.42	0.36688	D	0.87942	D	0.57571	0.98	B	0.41036	0.346	T	0.63107	-0.6711	10	0.87932	D	0	.	10.5898	0.45304	0.0:0.0763:0.0:0.9237	.	280	Q8NGF6	O10W1_HUMAN	L	280	ENSP00000378516:I280L	ENSP00000378516:I280L	I	-	1	0	OR10W1	57791069	1.000000	0.71417	0.774000	0.31636	0.897000	0.52465	3.940000	0.56599	0.993000	0.38866	0.533000	0.62120	ATC	OR10W1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	HGNC	protein_coding	OTTHUMT00000394704.1	T	NM_207374		58034493	-1	no_errors	ENST00000395079	ensembl	human	known	70_37	missense	SNP	0.994	G	G	58034493	T	G	58034493	3	3	44	1	0	0	0	0	1	0	0	0	10945	1406	49	5	83	5	OR10W1	11	58034493	Missense_Mutation	SNP	T	TCGA-C5-A7CK-01A-11D-A32I-09	1030516	58034493	76972023	68	6045										
TCN1	6947	genome.wustl.edu	37	chr11	59620777	59620777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgatatagggcccccatgagCgctcctccattgtgaaactg	10	12	0	3	rs371448135		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:59620777C>T	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	380	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCCATGAGCGCTCCTCCAT	0.458																																																	0								C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	102	103	102		1139	0.6	0	11		102	0,8590		0,0,4295	no	missense	TCN1	NM_001062.3	29	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	380/434	59620777	1,12991	2201	4295	6496	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1139G>A	11.37:g.59620777C>T	ENSP00000257264:p.Arg380His		A8KAC5|Q8WV77	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.R380H	ENST00000257264.3	37	c.1139	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712534	0.30322	2.27E-4	0.0	ENSG00000134827	ENST00000257264	T	0.29655	1.56	4.75	0.563	0.17296	.	0.918437	0.09038	N	0.857726	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.22386	0.039	T	0.26292	-1.0107	10	0.30854	T	0.27	-18.5463	5.4242	0.16417	0.0:0.5068:0.3095:0.1837	.	380	P20061	TCO1_HUMAN	H	380	ENSP00000257264:R380H	ENSP00000257264:R380H	R	-	2	0	TCN1	59377353	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.141000	0.03207	0.086000	0.17137	0.650000	0.86243	CGC	TCN1	-	NULL		0.458	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	C	NM_001062		59620777	-1	no_errors	ENST00000257264	ensembl	human	known	70_37	missense	SNP	0.000	T	T	59620777	C	T	59620777	3	4	44	1	0	0	0	0	1	0	0	0	15736	768	27	2	170	2	TCN1	11	59620777	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1586284	59620777	75385739	69	6046										
VPS37C	55048	genome.wustl.edu	37	chr11	60900771	60900771	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gccttccacctgcagaaggtCtaacaaggtccctggctgca	10	14	1	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:60900771C>T	ENST00000301765.5	-	4	536	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	102	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TGCAGAAGGTCTAACAAGGTC	0.537																																																	0													75	57	63					11																	60900771		2203	4299	6502	SO:0001583	missense	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.304G>A	11.37:g.60900771C>T	ENSP00000301765:p.Asp102Asn		Q8N3K4	Missense_Mutation	SNP	pfam_Mod_r	p.D102N	ENST00000301765.5	37	c.304	CCDS31573.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341893	0.81911	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.76839	-1.05;-1.05	5.01	5.01	0.66863	Modifier of rudimentary, Modr (2);	0.180038	0.49916	D	0.000139	T	0.69540	0.3122	L	0.38838	1.175	0.30779	N	0.742238	P;P	0.43938	0.822;0.503	P;B	0.46172	0.506;0.409	T	0.65228	-0.6219	10	0.08599	T	0.76	-16.562	11.0581	0.47931	0.0:0.9144:0.0:0.0856	.	102;102	B4DYD9;A5D8V6	.;VP37C_HUMAN	N	102	ENSP00000301765:D102N;ENSP00000446013:D102N	ENSP00000301765:D102N	D	-	1	0	VPS37C	60657347	0.926000	0.31397	0.974000	0.42286	0.982000	0.71751	1.799000	0.38824	2.318000	0.78349	0.561000	0.74099	GAC	VPS37C	-	pfam_Mod_r		0.537	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1	C	NM_017966		60900771	-1	no_errors	ENST00000301765	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60900771	C	T	60900771	3	4	44	1	0	0	0	0	1	0	0	0	17238	913	32	1	771	1	VPS37C	11	60900771	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1279994	60900771	74105745	70	6047										
VPS37C	55048	genome.wustl.edu	37	chr11	60901632	60901632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	aagttccgctctgccaggctCcggttggtggccagtgccat	13	13	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:60901632C>T	ENST00000301765.5	-	3	373	c.141G>A	c.(139-141)cgG>cgA	p.R47R		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	47					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CTGCCAGGCTCCGGTTGGTGG	0.582																																																	0													68	67	68					11																	60901632		2203	4299	6502	SO:0001819	synonymous_variant	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.141G>A	11.37:g.60901632C>T			Q8N3K4	Silent	SNP	pfam_Mod_r	p.R47	ENST00000301765.5	37	c.141	CCDS31573.1	11																																																																																			VPS37C	-	pfam_Mod_r		0.582	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1	C	NM_017966		60901632	-1	no_errors	ENST00000301765	ensembl	human	known	70_37	silent	SNP	0.958	T	T	60901632	C	T	60901632	2	4	44	1	0	0	0	0	0	0	0	1	17238	842	30	1		1	VPS37C	11	60901632	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	861	60901632	74104884	71	6048										
PPFIA1	8500	genome.wustl.edu	37	chr11	70221172	70221172	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttcagtgcactggcactgctGttacagatcccgacgcagaa	10	12	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:70221172G>T	ENST00000253925.7	+	24	3503	c.3288G>T	c.(3286-3288)ctG>ctT	p.L1096L	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.L1096L|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1096	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGCACTGCTGTTACAGATCC	0.468																																																	0													83	69	74					11																	70221172		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3288G>T	11.37:g.70221172G>T			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L1096	ENST00000253925.7	37	c.3288	CCDS31627.1	11																																																																																			PPFIA1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.468	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70221172	1	no_errors	ENST00000253925	ensembl	human	known	70_37	silent	SNP	0.001	T	T	70221172	G	T	70221172	2	4	44	1	0	0	0	0	0	0	0	1	12333	1364	48	4		4	PPFIA1	11	70221172	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	9319540	70221172	64785344	72	6049										
KDM4DL	390245	genome.wustl.edu	37	chr11	94759882	94759882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgtcccacacagcctgtgtcCtcagggcactgttacaaccc	8	16	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:94759882C>T	ENST00000450979.2	+	1	1461	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	387					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AGCCTGTGTCCTCAGGGCACT	0.537																																																	0													61	60	60					11																	94759882		692	1591	2283	SO:0001819	synonymous_variant	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.1161C>T	11.37:g.94759882C>T				Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S387	ENST00000450979.2	37	c.1161	CCDS44713.1	11																																																																																			KDM4E	-	NULL		0.537	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	C	NM_001161630		94759882	1	no_errors	ENST00000450979	ensembl	human	known	70_37	silent	SNP	0.000	T	T	94759882	C	T	94759882	2	4	44	1	0	0	0	0	0	0	0	1	8152	668	24	4		4	KDM4DL	11	94759882	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	24538710	94759882	40246634	73	6050										
NNMT	4837	genome.wustl.edu	37	chr11	114167330	114167330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	atctaagccattttaaccctCgggattacctagaaaaatat	5	9	1	1	rs141072720		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:114167330C>T	ENST00000535401.1	+	3	316	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	NNMT_ENST00000299964.3_Missense_Mutation_p.R18W|NNMT_ENST00000541754.1_5'Flank|NNMT_ENST00000542647.1_5'Flank|NNMT_ENST00000545255.1_5'Flank|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	18					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TTTTAACCCTCGGGATTACCT	0.428																																																	0													78	72	74					11																	114167330		2201	4296	6497	SO:0001583	missense	4837			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.52C>T	11.37:g.114167330C>T	ENSP00000441434:p.Arg18Trp			Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.R18W	ENST00000535401.1	37	c.52	CCDS8368.1	11	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510545	0.44660	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.03745	3.82;3.82	5.36	2.21	0.28008	.	0.529823	0.16933	N	0.193574	T	0.06416	0.0165	L	0.39514	1.22	0.20196	N	0.999929	D	0.71674	0.998	P	0.56612	0.802	T	0.30475	-0.9977	10	0.46703	T	0.11	-0.012	4.0946	0.09985	0.3265:0.4995:0.0:0.174	.	18	P40261	NNMT_HUMAN	W	18	ENSP00000441434:R18W;ENSP00000299964:R18W	ENSP00000299964:R18W	R	+	1	2	NNMT	113672540	0.000000	0.05858	0.260000	0.24451	0.692000	0.40212	-0.064000	0.11636	0.611000	0.30052	-0.293000	0.09583	CGG	NNMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans		0.428	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNMT	HGNC	protein_coding	OTTHUMT00000398951.1	C	NM_006169		114167330	1	no_errors	ENST00000299964	ensembl	human	known	70_37	missense	SNP	0.097	T	T	114167330	C	T	114167330	3	4	44	1	0	0	0	0	1	0	0	0	10533	875	31	1	54	1	NNMT	11	114167330	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	19407448	114167330	20839186	74	6051										
GRAMD1B	57476	genome.wustl.edu	37	chr11	123448268	123448268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cctcccagtccggccggagcGgcggcaagaattccaaggtg	14	14	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:123448268G>A	ENST00000529750.1	+	2	544	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G73S|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G73S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	73						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CGGCCGGAGCGGCGGCAAGAA	0.657											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	16	14					11																	123448268		2010	4170	6180	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.217G>A	11.37:g.123448268G>A	ENSP00000436500:p.Gly73Ser	1526	Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.G73S	ENST00000529750.1	37	c.217	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661959	0.29515	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.30182	1.87;1.96;1.96;1.99;1.54	4.92	3.88	0.44766	.	0.104272	0.64402	N	0.000003	T	0.15522	0.0374	N	0.19112	0.55	0.53688	D	0.999973	B;B;B;B	0.29341	0.242;0.014;0.033;0.008	B;B;B;B	0.23419	0.046;0.013;0.009;0.009	T	0.05241	-1.0897	10	0.07990	T	0.79	.	9.5291	0.39182	0.1758:0.0:0.8242:0.0	.	33;73;73;73	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	S	73;73;73;73;33;69	ENSP00000402457:G73S;ENSP00000325628:G73S;ENSP00000436500:G73S;ENSP00000432987:G33S;ENSP00000434214:G69S	ENSP00000325628:G73S	G	+	1	0	GRAMD1B	122953478	1.000000	0.71417	0.779000	0.31741	0.982000	0.71751	2.949000	0.49074	0.884000	0.36064	0.462000	0.41574	GGC	GRAMD1B	-	NULL		0.657	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	G	XM_370660		123448268	1	no_errors	ENST00000322282	ensembl	human	known	70_37	missense	SNP	0.999	A	A	123448268	G	A	123448268	3	1	44	1	0	0	0	0	1	0	0	0	6768	1116	39	2	223	2	GRAMD1B	11	123448268	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	9280938	123448268	11558248	75	6052										
B3GAT1	27087	genome.wustl.edu	37	chr11	134252735	134252735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gcttcgctgcagaatgagccGcaggttgacggcaaatccag	13	11	0	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr11:134252735G>A	ENST00000524765.1	-	4	5331	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R263W|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R276W|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R263W			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	263					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGAATGAGCCGCAGGTTGACG	0.592																																																	0													103	82	89					11																	134252735		2201	4297	6498	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.787C>T	11.37:g.134252735G>A	ENSP00000433847:p.Arg263Trp		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R276W	ENST00000524765.1	37	c.826	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123733	0.56613	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.22	1.01	0.19927	.	0.104326	0.64402	D	0.000007	T	0.56077	0.1961	L	0.52905	1.665	0.58432	D	0.999999	B;B	0.26483	0.15;0.029	B;B	0.18871	0.02;0.023	T	0.57347	-0.7827	10	0.66056	D	0.02	-29.4685	15.8236	0.78678	0.0:0.0:0.353:0.647	.	276;263	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	W	263;263;263;276	ENSP00000376359:R263W;ENSP00000307875:R263W;ENSP00000433847:R263W;ENSP00000445983:R276W	ENSP00000307875:R263W	R	-	1	2	B3GAT1	133757945	0.115000	0.22152	0.998000	0.56505	0.993000	0.82548	-0.035000	0.12205	0.031000	0.15407	0.491000	0.48974	CGG	B3GAT1	-	pfam_Glyco_trans_43		0.592	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	G	NM_018644		134252735	-1	no_errors	ENST00000537389	ensembl	human	known	70_37	missense	SNP	0.996	A	A	134252735	G	A	134252735	3	1	44	1	0	0	0	0	1	0	0	0	1254	1086	38	2	225	2	B3GAT1	11	134252735	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	10804467	134252735	753781	76	6053										
EFCAB4B	84766	genome.wustl.edu	37	chr12	3736711	3736711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agaactgctgggtgatgcacCggtacctgccacagaagggc	14	11	0	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:3736711C>T	ENST00000440314.2	-	17	2296	c.1823G>A	c.(1822-1824)cGg>cAg	p.R608Q		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		52					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGTGATGCACCGGTACCTGCC	0.617																																																	0													57	62	61					12																	3736711		692	1591	2283	SO:0001583	missense	84766																														ENST00000440314.2:c.1823G>A	12.37:g.3736711C>T	ENSP00000409382:p.Arg608Gln		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.R608Q	ENST00000440314.2	37	c.1823	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.160174	0.94727	.	.	ENSG00000130038	ENST00000440314	T	0.77098	-1.07	5.4	5.4	0.78164	.	0.056595	0.64402	D	0.000001	D	0.87265	0.6134	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.88672	0.3196	9	0.87932	D	0	.	14.6716	0.68948	0.0:1.0:0.0:0.0	.	608	Q9BSW2-2	.	Q	608	ENSP00000409382:R608Q	ENSP00000409382:R608Q	R	-	2	0	EFCAB4B	3606972	1.000000	0.71417	0.944000	0.38274	0.933000	0.57130	6.846000	0.75399	2.523000	0.85059	0.655000	0.94253	CGG	EFCAB4B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.617	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398640.2	C			3736711	-1	no_errors	ENST00000440314	ensembl	human	known	70_37	missense	SNP	0.999	T	T	3736711	C	T	3736711	3	4	44	1	0	0	0	0	1	0	0	0	4947	652	23	2	388	2	EFCAB4B	12	3736711	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		3736711	130115184	77	6054										
VWF	7450	genome.wustl.edu	37	chr12	6128901	6128901	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cacaggtgaggttgacaacaTcacagtggctgcagaaaaga	12	8	1	4			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:6128901T>A	ENST00000261405.5	-	28	3937	c.3683A>T	c.(3682-3684)gAt>gTt	p.D1228V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1228					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTTGACAACATCACAGTGGCT	0.542																																																	0													12	15	14					12																	6128901		2200	4292	6492	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3683A>T	12.37:g.6128901T>A	ENSP00000261405:p.Asp1228Val		Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.D1228V	ENST00000261405.5	37	c.3683	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	17.46	3.395882	0.62177	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.94	4.94	0.65067	.	0.153345	0.30519	N	0.009451	T	0.40645	0.1125	M	0.69823	2.125	0.80722	D	1	P	0.50710	0.938	B	0.43508	0.422	T	0.37911	-0.9685	10	0.36615	T	0.2	.	13.5574	0.61768	0.0:0.0:0.0:1.0	.	1228	P04275	VWF_HUMAN	V	1228	ENSP00000261405:D1228V	ENSP00000261405:D1228V	D	-	2	0	VWF	5999162	1.000000	0.71417	0.986000	0.45419	0.826000	0.46750	5.146000	0.64845	2.084000	0.62774	0.454000	0.30748	GAT	VWF	-	pirsf_VWF		0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	T	NM_000552		6128901	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6128901	T	A	6128901	3	1	44	1	0	0	0	0	1	0	0	0	17277	1435	50	5	4858	5	VWF	12	6128901	Missense_Mutation	SNP	T	TCGA-C5-A7CK-01A-11D-A32I-09	2392190	6128901	127722994	78	6055										
GSG1	83445	genome.wustl.edu	37	chr12	13243620	13243620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cagacctttctcgcacagggGcttgggcaccttctgtgtgc	12	13	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:13243620G>A	ENST00000432710.2	-	2	313	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	GSG1_ENST00000396310.2_Missense_Mutation_p.P45S|GSG1_ENST00000351606.6_Missense_Mutation_p.P61S|GSG1_ENST00000457134.2_Missense_Mutation_p.P48S|GSG1_ENST00000337630.6_Missense_Mutation_p.P48S|GSG1_ENST00000537302.1_Missense_Mutation_p.P48S|GSG1_ENST00000396302.3_Missense_Mutation_p.P48S|GSG1_ENST00000324458.8_Missense_Mutation_p.P61S	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	48						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCGCACAGGGGCTTGGGCACC	0.537																																																	0													121	106	111					12																	13243620		2203	4300	6503	SO:0001583	missense	83445			BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.181C>T	12.37:g.13243620G>A	ENSP00000405032:p.Pro61Ser		Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	pfam_GSG-1	p.P61S	ENST00000432710.2	37	c.181	CCDS55808.1	12	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938490	0.92526	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.88640	2.97	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999;0.999;1.0;1.0	D	0.83441	0.0043	10	0.54805	T	0.06	.	19.1798	0.93619	0.0:0.0:1.0:0.0	.	61;61;61;48;48;48;48;48	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	S	48;61;45;48;48;61;48;61;45;61;61;48	ENSP00000336816:P48S;ENSP00000320838:P61S;ENSP00000379604:P45S;ENSP00000379596:P48S;ENSP00000398384:P48S;ENSP00000405032:P61S;ENSP00000441718:P48S;ENSP00000336857:P61S;ENSP00000445884:P61S;ENSP00000439676:P61S;ENSP00000440684:P48S	ENSP00000320838:P61S	P	-	1	0	GSG1	13134887	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.470000	0.97683	2.537000	0.85549	0.561000	0.74099	CCC	GSG1	-	pfam_GSG-1		0.537	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1	HGNC	protein_coding	OTTHUMT00000316546.1	G	NM_031289		13243620	-1	no_errors	ENST00000324458	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13243620	G	A	13243620	3	1	44	1	0	0	0	0	1	0	0	0	6840	1203	42	4	1055	4	GSG1	12	13243620	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	7114719	13243620	120608275	79	6056										
ATF7IP	55729	genome.wustl.edu	37	chr12	14613464	14613464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttgtcactcctccagcagttGtcagtagtcaacctaaattg	7	11	3	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:14613464G>C	ENST00000540793.1	+	8	2349	c.2194G>C	c.(2194-2196)Gtc>Ctc	p.V732L	ATF7IP_ENST00000543189.1_Missense_Mutation_p.V731L|ATF7IP_ENST00000544627.1_Missense_Mutation_p.V740L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V731L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V732L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	732	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCCAGCAGTTGTCAGTAGTCA	0.398																																																	0													107	103	104					12																	14613464		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2194G>C	12.37:g.14613464G>C	ENSP00000444589:p.Val732Leu		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.V732L	ENST00000540793.1	37	c.2194	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287148	0.40494	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.20332	2.1;2.08;2.1;2.1;2.1	6.02	6.02	0.97574	.	0.309558	0.27901	N	0.017386	T	0.18509	0.0444	L	0.43152	1.355	0.33450	D	0.583487	B;B;B;B	0.23377	0.023;0.023;0.084;0.084	B;B;B;B	0.21917	0.007;0.007;0.037;0.037	T	0.12604	-1.0541	10	0.32370	T	0.25	-6.9913	10.2327	0.43264	0.0703:0.1368:0.7929:0.0	.	731;732;731;343	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	L	732;731;731;740;732	ENSP00000261168:V732L;ENSP00000443179:V731L;ENSP00000445955:V731L;ENSP00000440440:V740L;ENSP00000444589:V732L	ENSP00000261168:V732L	V	+	1	0	ATF7IP	14504731	0.995000	0.38212	0.998000	0.56505	0.994000	0.84299	2.411000	0.44600	2.857000	0.98124	0.650000	0.86243	GTC	ATF7IP	-	NULL		0.398	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	G	NM_018179		14613464	1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	0.914	C	C	14613464	G	C	14613464	3	2	44	1	0	0	0	0	1	0	0	0	1088	1377	48	4	2224	4	ATF7IP	12	14613464	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	1369844	14613464	119238431	80	6057										
PLEKHA5	54477	genome.wustl.edu	37	chr12	19282988	19282988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttctctcacccctgcagcgaGgaggccaagagcaccacctg	10	16	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:19282988G>A	ENST00000299275.6	+	2	99	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PLEKHA5_ENST00000355397.3_Silent_p.E31E|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Silent_p.E31E|PLEKHA5_ENST00000538714.1_Silent_p.E31E|PLEKHA5_ENST00000540972.1_Silent_p.E31E|PLEKHA5_ENST00000317589.4_Silent_p.E31E|PLEKHA5_ENST00000429027.2_Silent_p.E31E|PLEKHA5_ENST00000309364.4_Silent_p.E31E	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	31	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCTGCAGCGAGGAGGCCAAGA	0.716																																					Pancreas(196;329 2193 11246 14234 19524)												0													12	12	12					12																	19282988		2144	4200	6344	SO:0001819	synonymous_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.93G>A	12.37:g.19282988G>A			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.E31	ENST00000299275.6	37	c.93	CCDS8682.1	12																																																																																			PLEKHA5	-	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.716	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	G	NM_019012		19282988	1	no_errors	ENST00000317589	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19282988	G	A	19282988	2	1	44	1	0	0	0	0	0	0	0	1	12083	991	35	4		4	PLEKHA5	12	19282988	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	4669524	19282988	114568907	81	6058										
FAR2	55711	genome.wustl.edu	37	chr12	29449988	29449988	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttaacgtcactgccacccggCagctcttgcttatggctagt	9	13	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:29449988C>T	ENST00000536681.3	+	4	646	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	FAR2_ENST00000182377.4_Nonsense_Mutation_p.Q134*|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Nonsense_Mutation_p.Q37*	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	134					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TGCCACCCGGCAGCTCTTGCT	0.418																																																	0													143	147	145					12																	29449988		2203	4300	6503	SO:0001587	stop_gained	55711			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.400C>T	12.37:g.29449988C>T	ENSP00000443291:p.Gln134*		F8VV73|Q9H0D5|Q9NVW8	Nonsense_Mutation	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.Q134*	ENST00000536681.3	37	c.400	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.236819	0.95240	.	.	ENSG00000064763	ENST00000551451;ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	5.44	4.53	0.55603	.	0.198614	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.2425	12.9811	0.58564	0.18:0.82:0.0:0.0	.	.	.	.	X	37;134;134;37	.	ENSP00000182377:Q134X	Q	+	1	0	FAR2	29341255	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.406000	0.34646	1.219000	0.43474	0.585000	0.79938	CAG	FAR2	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like		0.418	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	C	NM_018099		29449988	1	no_errors	ENST00000182377	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29449988	C	T	29449988	4	4	44	1	0	0	0	0	0	1	0	0	5693	711	25	4	410	4	FAR2	12	29449988	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	10167000	29449988	104401907	82	6059										
ANO6	196527	genome.wustl.edu	37	chr12	45833560	45833560	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgtgttataggtttgtcgatGaaattagacttttggaacaa	10	3	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:45833560G>A	ENST00000425752.2	+	20	2931	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	ANO6_ENST00000435642.1_Missense_Mutation_p.E877K	NM_001142679.1	NP_001136151.1	Q4KMQ2	ANO6_HUMAN	anoctamin 6	0					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						gtttgtcgatgaaattagact	0.388																																																	0													168	137	147					12																	45833560		692	1591	2283	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000425752.2:c.2629G>A	12.37:g.45833560G>A	ENSP00000391417:p.Glu877Lys		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.E877K	ENST00000425752.2	37	c.2629	CCDS44865.1	12	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431179	0.25726	.	.	ENSG00000177119	ENST00000425752;ENST00000435642	T;T	0.71341	-0.56;-0.56	2.22	0.185	0.15096	.	.	.	.	.	T	0.44705	0.1306	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	9	0.66056	D	0.02	.	2.6169	0.04906	0.1767:0.0:0.513:0.3104	.	877	E9PCT2	.	K	877	ENSP00000391417:E877K;ENSP00000413840:E877K	ENSP00000391417:E877K	E	+	1	0	ANO6	44119827	0.013000	0.17824	0.008000	0.14137	0.016000	0.09150	-0.836000	0.04382	0.038000	0.15604	0.460000	0.39030	GAA	ANO6	-	NULL		0.388	ANO6-002	KNOWN	basic|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404819.1	G	XM_113743		45833560	1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	0.009	A	A	45833560	G	A	45833560	3	1	44	1	0	0	0	0	1	0	0	0	701	1291	45	1	2938	1	ANO6	12	45833560	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	16383572	45833560	88018335	83	6060										
MFSD5	84975	genome.wustl.edu	37	chr12	53647154	53647154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctcgagctgccttctggaacCatgtgctggctgtagtggca	13	11	1	0	rs373745086		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:53647154C>A	ENST00000329548.4	+	2	726	c.535C>A	c.(535-537)Cat>Aat	p.H179N	MFSD5_ENST00000534842.1_Missense_Mutation_p.H286N	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	179					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTCTGGAACCATGTGCTGGC	0.607																																																	0													143	143	143					12																	53647154		2203	4300	6503	SO:0001583	missense	84975			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.535C>A	12.37:g.53647154C>A	ENSP00000332624:p.His179Asn		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H286N	ENST00000329548.4	37	c.856	CCDS8851.1	12	.	.	.	.	.	.	.	.	.	.	C	3.888	-0.024670	0.07589	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.79352	-1.26;-1.26	4.36	4.36	0.52297	Major facilitator superfamily domain, general substrate transporter (1);	0.350346	0.30252	N	0.010055	T	0.48484	0.1502	N	0.01250	-0.93	0.31765	N	0.632822	B;B	0.15473	0.001;0.013	B;B	0.12837	0.008;0.008	T	0.53165	-0.8477	10	0.49607	T	0.09	-8.2349	7.559	0.27841	0.1854:0.6351:0.1796:0.0	.	179;286	Q6N075;G3V1N7	MFSD5_HUMAN;.	N	286;286;286;179	ENSP00000442688:H286N;ENSP00000332624:H179N	ENSP00000331231:H286N	H	+	1	0	MFSD5	51933421	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.441000	0.35035	2.268000	0.75426	0.561000	0.74099	CAT	MFSD5	-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.607	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	HGNC	protein_coding	OTTHUMT00000406896.1	C	NM_032889		53647154	1	no_errors	ENST00000534842	ensembl	human	known	70_37	missense	SNP	0.998	A	A	53647154	C	A	53647154	3	1	44	1	0	0	0	0	1	0	0	0	9557	594	21	4	862	4	MFSD5	12	53647154	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	7813594	53647154	80204741	84	6061										
ITGA5	3678	genome.wustl.edu	37	chr12	54793645	54793646	+	Intron	INS	-	-	A													0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cctcattccctgcctgacttINSaccaggatctgaggtcccga							TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:54793645_54793646insA	ENST00000293379.4	-	26	2989				RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTGCCTGACTTACCAGGATCTG	0.535											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2727+1->T	12.37:g.54793646_54793646dupA		1003	Q96HA5	Splice_Site	INS	-	e26+2	ENST00000293379.4	37	c.2727+2_2727+1	CCDS8880.1	12																																																																																			ITGA5	-	-		0.535	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	-			54793646	-1	no_errors	ENST00000293379	ensembl	human	known	70_37	splice_site_ins	INS	0.966:0.998	A	A	54793646	-	A	54793645	6	5	44	0	1	1	1	0	0	0	0	0	7899	1769	61	0		0	ITGA5	12	54793645	Intron	INS	-	TCGA-C5-A7CK-01A-11D-A32I-09	1146491	54793645	79058250	85	6062										
NAV3	89795	genome.wustl.edu	37	chr12	78562612	78562612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gctgcccaggcggctattcaGggagcactgaatggtccaga	14	11	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:78562612G>C	ENST00000397909.2	+	24	5120	c.4947G>C	c.(4945-4947)caG>caC	p.Q1649H	NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1649						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGGCTATTCAGGGAGCACTGA	0.378										HNSCC(70;0.22)																																							0													77	79	78					12																	78562612		1829	4070	5899	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4947G>C	12.37:g.78562612G>C	ENSP00000381007:p.Gln1649His		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q1649H	ENST00000397909.2	37	c.4947		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745329|2.745329	0.49151|0.49151	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.93547	.|-3.24;-3.24;-3.24;-3.24;-3.24	5.41|5.41	1.55|1.55	0.23275|0.23275	.|.	.|0.000000	.|0.38005	.|U	.|0.001858	D|D	0.89199|0.89199	0.6647|0.6647	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	.|P;P;D;D	.|0.58970	.|0.836;0.681;0.984;0.958	.|P;B;P;P	.|0.50896	.|0.519;0.299;0.653;0.584	D|D	0.83771|0.83771	0.0220|0.0220	5|10	.|0.34782	.|T	.|0.22	-13.8589|-13.8589	3.7668|3.7668	0.08626|0.08626	0.4453:0.0:0.3873:0.1674|0.4453:0.0:0.3873:0.1674	.|.	.|1649;1472;1649;1649	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	R|H	544|1649;1649;1649;1472;270;278	.|ENSP00000446132:Q1649H;ENSP00000381007:Q1649H;ENSP00000228327:Q1649H;ENSP00000266692:Q1472H;ENSP00000448303:Q278H	.|ENSP00000228327:Q1649H	G|Q	+|+	1|3	0|2	NAV3|NAV3	77086743|77086743	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.371000|0.371000	0.20450|0.20450	0.368000|0.368000	0.24481|0.24481	0.650000|0.650000	0.86243|0.86243	GGG|CAG	NAV3	-	NULL		0.378	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78562612	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	0.998	C	C	78562612	G	C	78562612	3	2	44	1	0	0	0	0	1	0	0	0	10208	991	35	4	5041	4	NAV3	12	78562612	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	23768967	78562612	55289283	86	6063										
C12orf26	84190	genome.wustl.edu	37	chr12	82752432	82752432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgctgcagttcctgagggatGccctgtccatttccaatgca	10	12	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:82752432G>A	ENST00000248306.3	+	1	157	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	CCDC59_ENST00000256151.7_5'UTR|CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	30							methyltransferase activity (GO:0008168)										CCTGAGGGATGCCCTGTCCAT	0.617											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													109	89	95					12																	82752432		2203	4300	6503	SO:0001583	missense	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.88G>A	12.37:g.82752432G>A	ENSP00000248306:p.Ala30Thr	1216	Q9H5Y3	Missense_Mutation	SNP	NULL	p.A30T	ENST00000248306.3	37	c.88	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	G	8.732	0.916854	0.17907	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.30714	1.52	5.49	4.6	0.57074	.	0.120861	0.64402	D	0.000010	T	0.25531	0.0621	L	0.45581	1.43	0.38409	D	0.945862	B	0.02656	0.0	B	0.04013	0.001	T	0.09250	-1.0683	10	0.23302	T	0.38	-8.4152	10.3879	0.44152	0.1516:0.0:0.8484:0.0	.	30	Q8N6Q8	CL026_HUMAN	T	30	ENSP00000248306:A30T	ENSP00000248306:A30T	A	+	1	0	C12orf26	81276563	0.913000	0.31002	0.094000	0.20943	0.054000	0.15201	1.873000	0.39558	1.330000	0.45394	-0.143000	0.13931	GCC	METTL25	-	NULL		0.617	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	G	NM_032230		82752432	1	no_errors	ENST00000248306	ensembl	human	known	70_37	missense	SNP	0.919	A	A	82752432	G	A	82752432	3	1	44	1	0	0	0	0	1	0	0	0	1683	1319	46	4	90	4	C12orf26	12	82752432	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	4189820	82752432	51099463	87	6064										
C12orf51	283450	genome.wustl.edu	37	chr12	112605159	112605159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtaattgtaggtgaggatatCcgcttcctgcaggtcttgct	12	8	1	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr12:112605159C>A	ENST00000430131.2	-	71	12375	c.11230G>T	c.(11230-11232)Gat>Tat	p.D3744Y	HECTD4_ENST00000377560.5_Missense_Mutation_p.D3994Y|HECTD4_ENST00000550722.1_Missense_Mutation_p.D4020Y			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3744	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGAGGATATCCGCTTCCTGC	0.612																																																	0													85	91	89					12																	112605159		2052	4179	6231	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11230G>T	12.37:g.112605159C>A	ENSP00000404379:p.Asp3744Tyr		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.D3994Y	ENST00000430131.2	37	c.11980		12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462549	0.84425	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.67171	-0.25;-0.25;-0.25	5.45	5.45	0.79879	HECT (4);	.	.	.	.	D	0.86306	0.5901	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89066	0.3466	9	0.87932	D	0	.	19.2694	0.94003	0.0:1.0:0.0:0.0	.	3744	Q9Y4D8	K0614_HUMAN	Y	3994;3744;4020;209	ENSP00000366783:D3994Y;ENSP00000404379:D3744Y;ENSP00000449784:D4020Y	ENSP00000366783:D3994Y	D	-	1	0	C12orf51	111089542	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.336000	0.79245	2.576000	0.86940	0.491000	0.48974	GAT	HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.612	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112605159	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112605159	C	A	112605159	3	1	44	1	0	0	0	0	1	0	0	0	1700	855	30	3	780	3	C12orf51	12	112605159	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	29852727	112605159	21246736	88	6065										
SPATA13	221178	genome.wustl.edu	37	chr13	24868965	24868965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agcgcaagctggagagcatcGacaagatagctcgctggcag	14	10	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:24868965G>A	ENST00000382095.4	+	9	1701	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	SPATA13_ENST00000399949.2_Missense_Mutation_p.D354N|SPATA13_ENST00000424834.2_Missense_Mutation_p.D1057N|SPATA13_ENST00000382108.3_Missense_Mutation_p.D1057N|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.D935N|SPATA13_ENST00000343003.6_Missense_Mutation_p.D376N|SPATA13_ENST00000409126.1_Missense_Mutation_p.D292N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	432					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGAGAGCATCGACAAGATAGC	0.542																																																	0													120	97	105					13																	24868965		2203	4300	6503	SO:0001583	missense	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1294G>A	13.37:g.24868965G>A	ENSP00000371527:p.Asp432Asn		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D1057N	ENST00000382095.4	37	c.3169	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.57|19.57	3.852835|3.852835	0.71719|0.71719	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003|ENST00000424834	D;D;D;D;D;D|.	0.88124|.	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34|.	5.42|5.42	4.57|4.57	0.56435|0.56435	Dbl homology (DH) domain (2);|.	0.043527|.	0.85682|.	N|.	0.000000|.	T|T	0.70298|0.70298	0.3208|0.3208	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B;B|.	0.29646|.	0.253;0.098;0.09;0.168;0.057;0.034|.	B;B;B;B;B;B|.	0.20184|.	0.02;0.028;0.017;0.028;0.028;0.012|.	T|T	0.69789|0.69789	-0.5050|-0.5050	10|5	0.66056|.	D|.	0.02|.	.|.	13.0145|13.0145	0.58749|0.58749	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	292;376;316;378;354;432|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	N|Q	1057;432;330;378;354;292;376|1094	ENSP00000371542:D1057N;ENSP00000371527:D432N;ENSP00000401605:D330N;ENSP00000382830:D354N;ENSP00000386471:D292N;ENSP00000343631:D376N|.	ENSP00000343631:D376N|.	D|R	+|+	1|2	0|0	SPATA13|SPATA13	23766965|23766965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	7.602000|7.602000	0.82796|0.82796	1.304000|1.304000	0.44892|0.44892	0.561000|0.561000	0.74099|0.74099	GAC|CGA	SPATA13	-	superfamily_DH-domain		0.542	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	G	NM_153023		24868965	1	no_errors	ENST00000382108	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24868965	G	A	24868965	3	1	44	1	0	0	0	0	1	0	0	0	15030	1058	37	1	3203	1	SPATA13	13	24868965	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		24868965	90300913	89	6066										
BRCA2	675	genome.wustl.edu	37	chr13	32937315	32937315	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	catttttgttttcacttttaGatatgatacggaaattgata	6	4	1	3	rs397507950|rs81002874		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:32937315G>A	ENST00000380152.3	+	18	8209		c.e18-1		BRCA2_ENST00000544455.1_Splice_Site			P51587	BRCA2_HUMAN	breast cancer 2, early onset						brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.?(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCACTTTTAGATATGATACG	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Unknown(2)	lung(2)	GRCh37	CS030294	BRCA2	S	rs81002874						40	39	39					13																	32937315		2202	4299	6501	SO:0001630	splice_region_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7977-1G>A	13.37:g.32937315G>A			O00183|O15008|Q13879|Q5TBJ7	Splice_Site	SNP	-	e17-1	ENST00000380152.3	37	c.7977-1	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178481	0.78564	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5097	0.90911	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRCA2	31835315	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.420000	0.97426	2.451000	0.82905	0.467000	0.42956	.	BRCA2	-	-		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	G	NM_000059	Intron	32937315	1	no_errors	ENST00000380152	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	32937315	G	A	32937315	5	1	44	1	0	0	0	0	0	0	1	0	1502	956	33	1	8042	1	BRCA2	13	32937315	Splice_Site	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	8068350	32937315	82232563	90	6067										
STOML3	161003	genome.wustl.edu	37	chr13	39542567	39542567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gcttcccgggtggcctcagcCtcggctgccatggatctctg	13	15	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:39542567C>T	ENST00000379631.4	-	6	965	c.621G>A	c.(619-621)gaG>gaA	p.E207E	STOML3_ENST00000423210.1_Silent_p.E198E	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	207					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGGCCTCAGCCTCGGCTGCCA	0.562																																																	0													97	91	93					13																	39542567		2203	4300	6503	SO:0001819	synonymous_variant	161003			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.621G>A	13.37:g.39542567C>T			B4E285|Q5JS35	Silent	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.E207	ENST00000379631.4	37	c.621	CCDS9367.1	13																																																																																			STOML3	-	pfam_Band_7,smart_Band_7,prints_Stomatin		0.562	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STOML3	HGNC	protein_coding	OTTHUMT00000044604.2	C			39542567	-1	no_errors	ENST00000379631	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39542567	C	T	39542567	2	4	44	1	0	0	0	0	0	0	0	1	15345	680	24	4		4	STOML3	13	39542567	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	6605252	39542567	75627311	91	6068										
C13orf31	144811	genome.wustl.edu	37	chr13	44455579	44455579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cattgaaataaacgtaatcaCagctcaagaactaagaggaa	7	7	2	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:44455579C>T	ENST00000441843.1	+	2	943	c.458C>T	c.(457-459)aCa>aTa	p.T153I	LACC1_ENST00000325686.6_Missense_Mutation_p.T153I|CCDC122_ENST00000476570.2_5'Flank|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	153																	AACGTAATCACAGCTCAAGAA	0.338																																																	0													73	79	77					13																	44455579		2203	4300	6503	SO:0001583	missense	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.458C>T	13.37:g.44455579C>T	ENSP00000391747:p.Thr153Ile		A2A3Z6|Q8N8X5	Missense_Mutation	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.T153I	ENST00000441843.1	37	c.458	CCDS9391.1	13	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354186	0.24512	.	.	ENSG00000179630	ENST00000441843;ENST00000425906;ENST00000325686	T;T	0.46063	0.88;0.88	5.87	4.11	0.48088	.	0.279522	0.40144	N	0.001170	T	0.42854	0.1221	M	0.68317	2.08	0.09310	N	0.999994	D	0.56035	0.974	P	0.45913	0.497	T	0.44421	-0.9329	10	0.72032	D	0.01	-1.9567	6.8097	0.23796	0.1438:0.7127:0.0:0.1436	.	153	Q8IV20	LACC1_HUMAN	I	153	ENSP00000391747:T153I;ENSP00000317619:T153I	ENSP00000317619:T153I	T	+	2	0	LACC1	43353579	0.065000	0.20965	0.915000	0.36163	0.190000	0.23558	2.195000	0.42677	0.903000	0.36546	0.655000	0.94253	ACA	LACC1	-	NULL		0.338	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	C	NM_153218		44455579	1	no_errors	ENST00000325686	ensembl	human	known	70_37	missense	SNP	0.181	T	T	44455579	C	T	44455579	3	4	44	1	0	0	0	0	1	0	0	0	1730	478	17	4	460	4	C13orf31	13	44455579	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	4913012	44455579	70714299	92	6069										
UGGT2	55757	genome.wustl.edu	37	chr13	96485211	96485211	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cttcttgttttcaagatgatCtaatagttgtcttatctcag	6	7	5	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:96485211C>G	ENST00000376747.3	-	38	4568	c.4498G>C	c.(4498-4500)Gat>Cat	p.D1500H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1500	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCAAGATGATCTAATAGTTGT	0.368																																																	0													217	191	200					13																	96485211		2202	4299	6501	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4498G>C	13.37:g.96485211C>G	ENSP00000365938:p.Asp1500His		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.D1500H	ENST00000376747.3	37	c.4498	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107328	0.20714	.	.	ENSG00000102595	ENST00000376747	T	0.08458	3.09	5.87	3.09	0.35607	.	0.416166	0.27792	N	0.017830	T	0.07548	0.0190	L	0.46157	1.445	0.58432	D	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.18335	-1.0340	10	0.45353	T	0.12	-6.699	5.0084	0.14300	0.0:0.4546:0.2382:0.3072	.	1500	Q9NYU1	UGGG2_HUMAN	H	1500	ENSP00000365938:D1500H	ENSP00000365938:D1500H	D	-	1	0	UGGT2	95283212	1.000000	0.71417	0.761000	0.31378	0.285000	0.27093	1.076000	0.30729	0.838000	0.34948	0.655000	0.94253	GAT	UGGT2	-	NULL		0.368	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	C	NM_020121		96485211	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	missense	SNP	0.814	G	G	96485211	C	G	96485211	3	3	44	1	0	0	0	0	1	0	0	0	16973	913	32	1	60	1	UGGT2	13	96485211	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	52029632	96485211	18684667	93	6070										
UGGT2	55757	genome.wustl.edu	37	chr13	96485250	96485250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agcatcatactccacccattCtgggacaattctggcagcag	8	13	3	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:96485250C>G	ENST00000376747.3	-	38	4529	c.4459G>C	c.(4459-4461)Gaa>Caa	p.E1487Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1487	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E1487Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCACCCATTCTGGGACAATT	0.353																																																	1	Substitution - Missense(1)	lung(1)											197	176	183					13																	96485250		2201	4299	6500	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4459G>C	13.37:g.96485250C>G	ENSP00000365938:p.Glu1487Gln		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.E1487Q	ENST00000376747.3	37	c.4459	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962105	0.92791	.	.	ENSG00000102595	ENST00000376747	T	0.23754	1.89	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68473	-0.5399	10	0.87932	D	0	-25.4093	20.2079	0.98282	0.0:1.0:0.0:0.0	.	1487	Q9NYU1	UGGG2_HUMAN	Q	1487	ENSP00000365938:E1487Q	ENSP00000365938:E1487Q	E	-	1	0	UGGT2	95283251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.988000	0.76212	2.781000	0.95711	0.655000	0.94253	GAA	UGGT2	-	NULL		0.353	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	C	NM_020121		96485250	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96485250	C	G	96485250	3	3	44	1	0	0	0	0	1	0	0	0	16973	922	32	1	99	1	UGGT2	13	96485250	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	39	96485250	18684628	94	6071										
TMTC4	84899	genome.wustl.edu	37	chr13	101264734	101264734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtattaattccagtgcctctCttccaactgcttcagcttgg	7	12	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:101264734C>T	ENST00000376234.3	-	16	2114	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	TMTC4_ENST00000342624.5_Missense_Mutation_p.R661K|TMTC4_ENST00000328767.5_Missense_Mutation_p.R531K	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	642						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCCTCTCTTCCAACTGC	0.418																																																	0													152	145	148					13																	101264734		2203	4300	6503	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1925G>A	13.37:g.101264734C>T	ENSP00000365408:p.Arg642Lys		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R661K	ENST00000376234.3	37	c.1982	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727638	0.30593	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.54279	0.58;0.58;0.58	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.086437	0.85682	D	0.000000	T	0.31231	0.0790	N	0.04508	-0.205	0.48571	D	0.999678	B;B;B	0.33379	0.02;0.019;0.41	B;B;B	0.30401	0.003;0.013;0.115	T	0.22138	-1.0225	10	0.10636	T	0.68	.	19.791	0.96456	0.0:1.0:0.0:0.0	.	531;642;661	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	K	642;661;531	ENSP00000365408:R642K;ENSP00000343871:R661K;ENSP00000365409:R531K	ENSP00000365409:R531K	R	-	2	0	TMTC4	100062735	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.599000	0.54045	2.677000	0.91161	0.491000	0.48974	AGA	TMTC4	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.418	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	C	NM_032813		101264734	-1	no_errors	ENST00000342624	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101264734	C	T	101264734	3	4	44	1	0	0	0	0	1	0	0	0	16293	913	32	1	312	1	TMTC4	13	101264734	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	4779484	101264734	13905144	95	6072			1	28		2	2	14	C		6.21494e-05
TMTC4	84899	genome.wustl.edu	37	chr13	101264747	101264747	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgcctctcttccaactgcttCagcttgggctaaattacctg	7	13	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr13:101264747C>T	ENST00000376234.3	-	16	2101	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	TMTC4_ENST00000342624.5_Missense_Mutation_p.E657K|TMTC4_ENST00000328767.5_Missense_Mutation_p.E527K	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	638						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCAACTGCTTCAGCTTGGGCT	0.403																																																	0													128	125	126					13																	101264747		2203	4300	6503	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1912G>A	13.37:g.101264747C>T	ENSP00000365408:p.Glu638Lys		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E657K	ENST00000376234.3	37	c.1969	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286966	0.80803	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.52295	0.67;0.67;0.67	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	L	0.59436	1.845	0.80722	D	1	B;P;P	0.39044	0.404;0.656;0.656	B;B;B	0.39419	0.147;0.205;0.299	T	0.40961	-0.9535	10	0.27082	T	0.32	.	19.791	0.96456	0.0:1.0:0.0:0.0	.	527;638;657	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	K	638;657;527	ENSP00000365408:E638K;ENSP00000343871:E657K;ENSP00000365409:E527K	ENSP00000365409:E527K	E	-	1	0	TMTC4	100062748	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.431000	0.80335	2.677000	0.91161	0.491000	0.48974	GAA	TMTC4	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.403	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	C	NM_032813		101264747	-1	no_errors	ENST00000342624	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101264747	C	T	101264747	3	4	44	1	0	0	0	0	1	0	0	0	16293	835	29	1	325	1	TMTC4	13	101264747	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	13	101264747	13905131	96	6073			1	28		2	2	14	C		6.21494e-05
MDGA2	161357	genome.wustl.edu	37	chr14	47566263	47566263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctgttgtaacacatactaatGttatggcctctccaggattt	7	9	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr14:47566263G>A	ENST00000399232.2	-	6	1146	c.782C>T	c.(781-783)aCa>aTa	p.T261I	MDGA2_ENST00000439988.3_Missense_Mutation_p.T330I|MDGA2_ENST00000426342.1_Missense_Mutation_p.T32I|MDGA2_ENST00000357362.3_Missense_Mutation_p.T32I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	261	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACATACTAATGTTATGGCCTC	0.438																																																	0													124	118	120					14																	47566263		1906	4112	6018	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.782C>T	14.37:g.47566263G>A	ENSP00000382178:p.Thr261Ile		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.T330I	ENST00000399232.2	37	c.989		14	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606287	0.87157	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.33585	0.0868	L	0.56340	1.77	0.80722	D	1	D	0.53462	0.96	P	0.58130	0.833	T	0.00257	-1.1872	10	0.28530	T	0.3	.	18.6475	0.91416	0.0:0.0:1.0:0.0	.	261	Q7Z553	MDGA2_HUMAN	I	261;32;330;32	ENSP00000400011:T261I;ENSP00000405456:T32I;ENSP00000382178:T330I;ENSP00000349925:T32I	ENSP00000349925:T32I	T	-	2	0	MDGA2	46636013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.067000	0.93955	2.821000	0.97095	0.650000	0.86243	ACA	MDGA2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.438	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47566263	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47566263	G	A	47566263	3	1	44	1	0	0	0	0	1	0	0	0	9430	1377	48	4	2136	4	MDGA2	14	47566263	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		47566263	59783277	97	6074										
FRMD6	122786	genome.wustl.edu	37	chr14	52194513	52194513	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gatcgacacagcttgagcctCgatgacatcagactttacca	8	12	1	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr14:52194513C>T	ENST00000344768.5	+	14	1831	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	FRMD6_ENST00000356218.4_Silent_p.L537L|FRMD6_ENST00000554167.1_Silent_p.L468L|FRMD6_ENST00000553556.1_Silent_p.L187L|FRMD6_ENST00000395718.2_Silent_p.L537L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	545					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGAGCCTCGATGACATCA	0.453																																																	0													162	138	146					14																	52194513		2203	4300	6503	SO:0001819	synonymous_variant	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1635C>T	14.37:g.52194513C>T			D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.L545	ENST00000344768.5	37	c.1635	CCDS58318.1	14																																																																																			FRMD6	-	NULL		0.453	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	C	NM_152330		52194513	1	no_errors	ENST00000344768	ensembl	human	known	70_37	silent	SNP	0.756	T	T	52194513	C	T	52194513	2	4	44	1	0	0	0	0	0	0	0	1	6072	871	31	1		1	FRMD6	14	52194513	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	4628250	52194513	55155027	98	6075										
PLEK2	26499	genome.wustl.edu	37	chr14	67854156	67854156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cactttgaagaggtttccctGgacattccctttaaccccta	6	13	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr14:67854156G>A	ENST00000216446.4	-	9	1092	c.952C>T	c.(952-954)Cag>Tag	p.Q318*		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	318	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AGGTTTCCCTGGACATTCCCT	0.438																																																	0													142	130	134					14																	67854156		2203	4300	6503	SO:0001587	stop_gained	26499			AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.952C>T	14.37:g.67854156G>A	ENSP00000216446:p.Gln318*		Q96JT0	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.Q318*	ENST00000216446.4	37	c.952	CCDS9782.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.541689	0.96474	.	.	ENSG00000100558	ENST00000216446	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4977	18.3439	0.90314	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000216446:Q318X	Q	-	1	0	PLEK2	66923909	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.472000	0.90407	2.773000	0.95371	0.655000	0.94253	CAG	PLEK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK2	HGNC	protein_coding	OTTHUMT00000412547.2	G			67854156	-1	no_errors	ENST00000216446	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	67854156	G	A	67854156	4	1	44	1	0	0	0	0	0	1	0	0	12078	1357	47	4	113	4	PLEK2	14	67854156	Nonsense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	15659643	67854156	39495384	99	6076										
YLPM1	56252	genome.wustl.edu	37	chr14	75266120	75266120	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ataggggtgagttgaggattCgagagtatccagaaagagga	16	3	0	5			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr14:75266120C>T	ENST00000325680.7	+	5	4244	c.4120C>T	c.(4120-4122)Cga>Tga	p.R1374*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1179*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1179					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTTGAGGATTCGAGAGTATCC	0.463																																																	0													219	206	210					14																	75266120		1931	4149	6080	SO:0001587	stop_gained	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4120C>T	14.37:g.75266120C>T	ENSP00000324463:p.Arg1374*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	superfamily_FH2_actin-bd	p.R1374*	ENST00000325680.7	37	c.4120	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.642530	0.97730	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.79	4.87	0.63330	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7341	16.3006	0.82807	0.1329:0.8671:0.0:0.0	.	.	.	.	X	1374;1179;1087	.	ENSP00000238571:R1179X	R	+	1	2	YLPM1	74335873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.047000	0.49854	2.753000	0.94483	0.537000	0.68136	CGA	YLPM1	-	NULL		0.463	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	C	NM_019589		75266120	1	no_errors	ENST00000325680	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	75266120	C	T	75266120	4	4	44	1	0	0	0	0	0	1	0	0	17517	876	31	1	4138	1	YLPM1	14	75266120	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	7411964	75266120	32083420	100	6077										
TMED8	283578	genome.wustl.edu	37	chr14	77808308	77808308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ggagctcctggagcctctctCcacatctccagctggaacgg	11	15	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr14:77808308C>G	ENST00000216468.7	-	6	839	c.784G>C	c.(784-786)Gag>Cag	p.E262Q		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	262	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCCTCTCTCCACATCTCCA	0.607																																																	0													48	39	42					14																	77808308		2203	4300	6503	SO:0001583	missense	283578			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.784G>C	14.37:g.77808308C>G	ENSP00000216468:p.Glu262Gln		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	superfamily_GOLD,pfscan_GOLD	p.E262Q	ENST00000216468.7	37	c.784	CCDS32125.1	14	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030832	0.93575	.	.	ENSG00000100580	ENST00000216468	T	0.29142	1.58	6.08	6.08	0.98989	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.55927	-0.8063	10	0.62326	D	0.03	-31.9021	20.2598	0.98436	0.0:1.0:0.0:0.0	.	262	Q6PL24	TMED8_HUMAN	Q	262	ENSP00000216468:E262Q	ENSP00000216468:E262Q	E	-	1	0	TMED8	76878061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.785000	0.68998	2.890000	0.99128	0.655000	0.94253	GAG	TMED8	-	superfamily_GOLD,pfscan_GOLD		0.607	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	C	NM_213601		77808308	-1	no_errors	ENST00000216468	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77808308	C	G	77808308	3	3	44	1	0	0	0	0	1	0	0	0	16041	864	30	1	196	1	TMED8	14	77808308	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	2542188	77808308	29541232	101	6078										
LTK	4058	genome.wustl.edu	37	chr15	41797410	41797410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caggactgctcctaacctgtGgatgaagtgattttcctcca	9	11	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr15:41797410G>T	ENST00000263800.6	-	15	2017	c.1921C>A	c.(1921-1923)Cac>Aac	p.H641N	LTK_ENST00000355166.5_Missense_Mutation_p.H580N|LTK_ENST00000561619.1_Missense_Mutation_p.H339N|LTK_ENST00000453182.2_Missense_Mutation_p.H511N	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	641	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCTAACCTGTGGATGAAGTGA	0.582										TSP Lung(18;0.14)																																							0													70	62	65					15																	41797410		2203	4300	6503	SO:0001583	missense	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1921C>A	15.37:g.41797410G>T	ENSP00000263800:p.His641Asn		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H641N	ENST00000263800.6	37	c.1921	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896105	0.72639	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.97404	-4.37;-4.37;-1.86	4.29	3.3	0.37823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98934	0.9638	H	0.98682	4.3	0.52501	D	0.999958	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.979;1.0;1.0	D	0.98378	1.0557	9	0.87932	D	0	.	10.0	0.41922	0.1116:0.0:0.8884:0.0	.	511;511;580;641	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	N	580;641;511	ENSP00000347293:H580N;ENSP00000263800:H641N;ENSP00000392196:H511N	ENSP00000263800:H641N	H	-	1	0	LTK	39584702	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	3.425000	0.52771	0.894000	0.36317	0.561000	0.74099	CAC	LTK	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.582	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	G			41797410	-1	no_errors	ENST00000263800	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41797410	G	T	41797410	3	4	44	1	0	0	0	0	1	0	0	0	9103	1348	47	4	697	4	LTK	15	41797410	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		41797410	60733982	102	6079										
B2M	567	genome.wustl.edu	37	chr15	45007645	45007645	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tccaaagattcaggtttactCacgtcatccagcagagaatg	8	10	3	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr15:45007645C>G	ENST00000558401.1	+	2	162	c.92C>G	c.(91-93)tCa>tGa	p.S31*	B2M_ENST00000559916.1_Nonsense_Mutation_p.S31*|B2M_ENST00000544417.1_Nonsense_Mutation_p.S31*|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	31	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CAGGTTTACTCACGTCATCCA	0.413																																																	0													160	160	160					15																	45007645		2198	4298	6496	SO:0001587	stop_gained	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.92C>G	15.37:g.45007645C>G	ENSP00000452780:p.Ser31*		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Nonsense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	p.S31*	ENST00000558401.1	37	c.92	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846911	0.51164	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	.	.	.	5.82	5.82	0.92795	.	0.287438	0.39341	N	0.001388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5992	0.76611	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000340858:S31X	S	+	2	0	B2M	42794937	0.201000	0.23410	0.150000	0.22450	0.052000	0.14988	3.145000	0.50623	2.752000	0.94435	0.655000	0.94253	TCA	B2M	-	pfscan_Ig-like		0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	C	NM_004048		45007645	1	no_errors	ENST00000544417	ensembl	human	known	70_37	nonsense	SNP	0.686	G	G	45007645	C	G	45007645	4	3	44	1	0	0	0	0	0	1	0	0	1245	838	29	1	98	1	B2M	15	45007645	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	3210235	45007645	57523747	103	6080										
ATP8B4	79895	genome.wustl.edu	37	chr15	50271846	50271846	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gaaatgggtacaactgtattGagaataataatatatgacca	8	4	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr15:50271846G>C	ENST00000284509.6	-	12	1143	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000559829.1_Silent_p.L334L|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	334						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAACTGTATTGAGAATAATAA	0.318																																																	0													100	114	109					15																	50271846		2196	4295	6491	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1002C>G	15.37:g.50271846G>C			Q9H727	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L334	ENST00000284509.6	37	c.1002	CCDS32238.1	15																																																																																			ATP8B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.318	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	G	NM_024837		50271846	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	silent	SNP	0.999	C	C	50271846	G	C	50271846	2	2	44	1	0	0	0	0	0	0	0	1	1198	1277	45	1		1	ATP8B4	15	50271846	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	5264201	50271846	52259546	104	6081										
STRA6	64220	genome.wustl.edu	37	chr15	74486261	74486261	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agcagggagtagtacttgtaGatctggacagacaaacaccc	11	9	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr15:74486261G>T	ENST00000323940.5	-	8	845	c.600C>A	c.(598-600)atC>atA	p.I200I	STRA6_ENST00000574278.1_Silent_p.I215I|STRA6_ENST00000563965.1_Silent_p.I239I|STRA6_ENST00000395105.4_Silent_p.I200I|STRA6_ENST00000423167.2_Silent_p.I191I|STRA6_ENST00000416286.3_Silent_p.I192I|STRA6_ENST00000449139.2_Silent_p.I200I|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Silent_p.I237I	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	200					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGTACTTGTAGATCTGGACAG	0.577																																																	0													141	152	148					15																	74486261		2198	4297	6495	SO:0001819	synonymous_variant	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.600C>A	15.37:g.74486261G>T			A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	NULL	p.I239	ENST00000323940.5	37	c.717	CCDS10261.1	15																																																																																			STRA6	-	NULL		0.577	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	G			74486261	-1	no_errors	ENST00000563965	ensembl	human	known	70_37	silent	SNP	0.999	T	T	74486261	G	T	74486261	2	4	44	1	0	0	0	0	0	0	0	1	15352	932	33	3		3	STRA6	15	74486261	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	24214415	74486261	28045131	105	6082										
PEX11A	8800	genome.wustl.edu	37	chr15	90226789	90226789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gcaagggaggatgctgcttcAgagatcggaataaaagaagt	14	5	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr15:90226789A>G	ENST00000300056.3	-	3	712	c.563T>C	c.(562-564)cTg>cCg	p.L188P	PEX11A_ENST00000561257.1_Missense_Mutation_p.L157P|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	188					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGCTGCTTCAGAGATCGGAA	0.473																																																	0													242	248	246					15																	90226789		2200	4299	6499	SO:0001583	missense	8800			AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"peroxisomal biogenesis factor 11A"			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.563T>C	15.37:g.90226789A>G	ENSP00000300056:p.Leu188Pro		B4DV88	Missense_Mutation	SNP	pfam_PEX11	p.L188P	ENST00000300056.3	37	c.563	CCDS10354.1	15	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629340	0.46944	.	.	ENSG00000166821	ENST00000300056	T	0.47177	0.85	5.75	5.75	0.90469	.	0.059477	0.64402	D	0.000002	T	0.67795	0.2931	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69420	-0.5150	10	0.38643	T	0.18	-9.3839	9.6848	0.40091	0.9228:0.0:0.0772:0.0	.	188	O75192	PX11A_HUMAN	P	188	ENSP00000300056:L188P	ENSP00000300056:L188P	L	-	2	0	PEX11A	88027793	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	8.852000	0.92215	2.188000	0.69820	0.533000	0.62120	CTG	PEX11A	-	pfam_PEX11		0.473	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11A	HGNC	protein_coding	OTTHUMT00000313420.1	A	NM_003847		90226789	-1	no_errors	ENST00000300056	ensembl	human	known	70_37	missense	SNP	0.976	G	G	90226789	A	G	90226789	3	3	44	1	0	0	0	0	1	0	0	0	11761	188	7	5	184	5	PEX11A	15	90226789	Missense_Mutation	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	15740528	90226789	12304603	106	6083										
CIB1	10519	genome.wustl.edu	37	chr15	90777075	90777075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cgtcccgcgcacctggtactCggccagcagctccttggaca	11	17	0	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr15:90777075C>T	ENST00000328649.6	-	1	204	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GDPGP1_ENST00000558017.1_5'UTR	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	15					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACCTGGTACTCGGCCAGCAGC	0.741																																																	0													7	11	9					15																	90777075		2050	4020	6070	SO:0001583	missense	10519			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.43G>A	15.37:g.90777075C>T	ENSP00000333873:p.Glu15Lys		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E15K	ENST00000328649.6	37	c.43	CCDS10360.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.656343	0.96724	.	.	ENSG00000185043	ENST00000328649	T	0.10288	2.89	4.84	4.84	0.62591	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.00733	-1.1589	10	0.56958	D	0.05	-21.4019	13.3172	0.60413	0.0:1.0:0.0:0.0	.	15	Q99828	CIB1_HUMAN	K	15	ENSP00000333873:E15K	ENSP00000333873:E15K	E	-	1	0	CIB1	88578079	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	5.088000	0.64486	2.523000	0.85059	0.609000	0.83330	GAG	CIB1	-	NULL		0.741	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB1	HGNC	protein_coding	OTTHUMT00000313419.1	C			90777075	-1	no_errors	ENST00000328649	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90777075	C	T	90777075	3	4	44	1	0	0	0	0	1	0	0	0	3425	893	31	1	560	1	CIB1	15	90777075	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	550286	90777075	11754317	107	6084										
TPSG1	8912	genome.wustl.edu	37	chr16	1272918	1272918	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agtcggatgagttcagggacCtgggagggaaggtggctggg	21	5	1	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:1272918C>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Splice_Site	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTTCAGGGACCTGGGAGGGAA	0.647																																																	0													26	16	20					16																	1272918		2193	4289	6482	SO:0001628	intergenic_variant	25823			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272918C>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Splice_Site	SNP	-	e4-1	ENST00000348261.5	37	c.246-1	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	c	10.49	1.364757	0.24684	.	.	ENSG00000116176	ENST00000234798	.	.	.	2.72	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3656	0.26770	0.0:0.858:0.0:0.142	.	.	.	.	.	-1	.	.	.	-	.	.	TPSG1	1212919	0.000000	0.05858	0.440000	0.26846	0.389000	0.30415	-0.243000	0.08915	0.453000	0.26858	0.556000	0.70494	.	TPSG1	-	-		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1272918	-1	no_errors	ENST00000234798	ensembl	human	known	70_37	splice_site	SNP	0.758	A	A	1272918	C	A	1272918	1	1	44	0	1	0	0	0	0	0	0	0	16457	695	24	4		4	TPSG1	16	1272918	IGR	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		1272918	89081835	108	6085										
TBC1D24	57465	genome.wustl.edu	37	chr16	2547037	2547037	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttcgccatccgcctcttctcCcgcaaggagatccagctcct	7	18	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:2547037C>A	ENST00000293970.5	+	2	1021	c.888C>A	c.(886-888)tcC>tcA	p.S296S	TBC1D24_ENST00000567020.1_Silent_p.S296S|RP11-20I23.1_ENST00000564543.1_Silent_p.S296S|TBC1D24_ENST00000434757.2_Silent_p.S296S	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	296					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCCTCTTCTCCCGCAAGGAGA	0.592																																																	0													44	51	48					16																	2547037		2133	4251	6384	SO:0001819	synonymous_variant	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.888C>A	16.37:g.2547037C>A			A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.S296	ENST00000293970.5	37	c.888	CCDS55980.1	16																																																																																			TBC1D24	-	superfamily_Rab-GTPase-TBC_dom		0.592	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	C	NM_020705		2547037	1	no_errors	ENST00000293970	ensembl	human	known	70_37	silent	SNP	0.997	A	A	2547037	C	A	2547037	2	1	44	1	0	0	0	0	0	0	0	1	15644	610	22	4		4	TBC1D24	16	2547037	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1274119	2547037	87807716	109	6086										
ADCY9	115	genome.wustl.edu	37	chr16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cggcgatccactccagcaggCgcttggtgcaggccatgacg	14	14	0	1	rs142198070		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	854					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCAGCAGGCGCTTGGTGCA	0.662																																																	0								C	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	60	60	60		2561	2.1	1	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	29	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	854/1354	4029235	1,12993	2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2561G>A	16.37:g.4029235C>T	ENSP00000294016:p.Arg854His		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R854H	ENST00000294016.3	37	c.2561	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577186	0.45902	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.54	2.08	0.27032	.	0.544492	0.20631	N	0.088598	T	0.69700	0.3140	L	0.27053	0.805	0.30493	N	0.771183	B	0.09022	0.002	B	0.04013	0.001	T	0.58446	-0.7635	10	0.13470	T	0.59	.	12.0346	0.53417	0.0:0.7791:0.0:0.2209	.	854	O60503	ADCY9_HUMAN	H	854	ENSP00000294016:R854H	ENSP00000294016:R854H	R	-	2	0	ADCY9	3969236	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	0.713000	0.32060	0.655000	0.94253	CGC	ADCY9	-	NULL		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4029235	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	0.851	T	T	4029235	C	T	4029235	3	4	44	1	0	0	0	0	1	0	0	0	301	768	27	2	1516	2	ADCY9	16	4029235	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1482198	4029235	86325518	110	6087										
C16orf89	146556	genome.wustl.edu	37	chr16	5115993	5115993	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gcctctgcacgccctcctccCacctccttcccacctccccc	3	27	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:5115993C>A	ENST00000315997.5	-	0	118				C16orf89_ENST00000474471.3_5'Flank|C16orf89_ENST00000350219.4_Missense_Mutation_p.G11W|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.G11W|C16orf89_ENST00000472572.3_5'UTR	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCCCTCCTCCCACCTCCTTCC	0.672																																																	0													12	14	13					16																	5115993		2019	4185	6204	SO:0001623	5_prime_UTR_variant	146556				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.-84G>T	16.37:g.5115993C>A			B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.G11W	ENST00000315997.5	37	c.31	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	4.623	0.115750	0.08831	.	.	ENSG00000153446	ENST00000422873;ENST00000350219	T;T	0.37752	1.18;1.63	4.58	1.25	0.21368	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.20384	0.029	T	0.23797	-1.0178	7	.	.	.	-9.3775	3.2692	0.06875	0.2009:0.5562:0.0:0.2429	.	11	G3V0F0	.	W	11	ENSP00000390402:G11W;ENSP00000283478:G11W	.	G	-	1	0	C16orf89	5055994	0.000000	0.05858	0.013000	0.15412	0.025000	0.11179	-0.077000	0.11394	0.375000	0.24679	-0.158000	0.13435	GGG	C16orf89	-	NULL		0.672	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	C	NM_152459		5115993	-1	no_errors	ENST00000350219	ensembl	human	known	70_37	missense	SNP	0.006	A	A	5115993	C	A	5115993	1	1	44	0	1	0	0	0	0	0	0	0	1846	594	21	4		4	C16orf89	16	5115993	5'UTR	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1086758	5115993	85238760	111	6088										
SMG1	23049	genome.wustl.edu	37	chr16	18849988	18849988	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	atgtatccaaccatagacatGactgcagtagatcttgcata	7	9	1	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:18849988G>C	ENST00000446231.2	-	43	7381	c.6969C>G	c.(6967-6969)gtC>gtG	p.V2323V	SMG1_ENST00000389467.3_Silent_p.V2323V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2323	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATAGACATGACTGCAGTAG	0.388																																																	0													107	97	101					16																	18849988		1877	4113	5990	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6969C>G	16.37:g.18849988G>C			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2323	ENST00000446231.2	37	c.6969	CCDS45430.1	16																																																																																			SMG1	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18849988	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	C	C	18849988	G	C	18849988	2	2	44	1	0	0	0	0	0	0	0	1	14825	1277	45	1		1	SMG1	16	18849988	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	13733995	18849988	71504765	112	6089										
FAM96B	51647	genome.wustl.edu	37	chr16	66967633	66967633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cacagccactgtactctcggGgtcgctaacctggttgtgga	12	12	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:66967633G>T	ENST00000422424.2	-	3	267	c.232C>A	c.(232-234)Ccc>Acc	p.P78T	CES2_ENST00000317091.4_5'Flank|CES2_ENST00000417689.1_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	78					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GTACTCTCGGGGTCGCTAACC	0.527																																																	0													33	40	38					16																	66967633		2114	4212	6326	SO:0001583	missense	51647				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.232C>A	16.37:g.66967633G>T	ENSP00000387471:p.Pro78Thr			Missense_Mutation	SNP	pfam_DUF59	p.P78T	ENST00000422424.2	37	c.232	CCDS45506.1	16	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778308	0.49786	.	.	ENSG00000166595	ENST00000422424	.	.	.	4.94	2.84	0.33178	Domain of unknown function DUF59 (1);	0.679967	0.14182	N	0.335956	T	0.13030	0.0316	N	0.03608	-0.345	0.26828	N	0.968632	B	0.02656	0.0	B	0.09377	0.004	T	0.20273	-1.0280	9	0.17832	T	0.49	-12.5081	3.1966	0.06635	0.0949:0.2576:0.4833:0.1642	.	78	Q9Y3D0	MIP18_HUMAN	T	78	.	ENSP00000387471:P78T	P	-	1	0	FAM96B	65525134	0.923000	0.31300	0.674000	0.29902	0.964000	0.63967	2.187000	0.42602	1.301000	0.44836	0.563000	0.77884	CCC	FAM96B	-	pfam_DUF59		0.527	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	FAM96B	HGNC	protein_coding	OTTHUMT00000429890.1	G	NM_016062		66967633	-1	no_errors	ENST00000422424	ensembl	human	known	70_37	missense	SNP	0.888	T	T	66967633	G	T	66967633	3	4	44	1	0	0	0	0	1	0	0	0	5673	1232	43	4	271	4	FAM96B	16	66967633	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	48117645	66967633	23387120	113	6090										
MPHOSPH6	10200	genome.wustl.edu	37	chr16	82203748	82203748	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	accttcatgcgcagtagattCttggacaaccttgtctttcg	8	11	3	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr16:82203748C>G	ENST00000258169.4	-	1	83	c.33G>C	c.(31-33)aaG>aaC	p.K11N	MPHOSPH6_ENST00000563504.1_5'UTR|CTD-2588J6.2_ENST00000563841.1_lincRNA|MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.K11N|MPHOSPH6_ENST00000567729.1_5'UTR	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	11					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						GCAGTAGATTCTTGGACAACC	0.716																																																	0													33	24	27					16																	82203748		2199	4298	6497	SO:0001583	missense	10200			X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.33G>C	16.37:g.82203748C>G	ENSP00000258169:p.Lys11Asn		B2RAF0	Missense_Mutation	SNP	pfam_MPP6	p.K11N	ENST00000258169.4	37	c.33	CCDS10937.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083898	0.76642	.	.	ENSG00000135698	ENST00000258169	T	0.52754	0.65	4.68	4.68	0.58851	.	0.094954	0.64402	D	0.000001	T	0.41743	0.1172	L	0.46819	1.47	0.58432	D	0.999997	B	0.24618	0.107	B	0.30716	0.119	T	0.43410	-0.9393	10	0.66056	D	0.02	-15.0115	8.6647	0.34114	0.0:0.898:0.0:0.102	.	11	Q99547	MPH6_HUMAN	N	11	ENSP00000258169:K11N	ENSP00000258169:K11N	K	-	3	2	MPHOSPH6	80761249	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.098000	0.31000	2.415000	0.81967	0.650000	0.86243	AAG	MPHOSPH6	-	pfam_MPP6		0.716	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH6	HGNC	protein_coding	OTTHUMT00000269058.1	C	NM_005792		82203748	-1	no_errors	ENST00000258169	ensembl	human	known	70_37	missense	SNP	1.000	G	G	82203748	C	G	82203748	3	3	44	1	0	0	0	0	1	0	0	0	9749	912	32	1	469	1	MPHOSPH6	16	82203748	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	15236115	82203748	8151005	114	6091										
NLRP1	22861	genome.wustl.edu	37	chr17	5463357	5463357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	atttctctctctctctttctCtgatttctaagtaagggagg	7	9	5	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr17:5463357C>A	ENST00000572272.1	-	4	658	c.659G>T	c.(658-660)aGa>aTa	p.R220I	NLRP1_ENST00000345221.3_Missense_Mutation_p.R220I|NLRP1_ENST00000262467.5_Missense_Mutation_p.R220I|NLRP1_ENST00000354411.3_Missense_Mutation_p.R220I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.R220I|NLRP1_ENST00000269280.4_Missense_Mutation_p.R220I			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	220					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCTCTTTCTCTGATTTCTAA	0.478																																																	0													18	20	20					17																	5463357		2166	4276	6442	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.659G>T	17.37:g.5463357C>A	ENSP00000460475:p.Arg220Ile		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.R220I	ENST00000572272.1	37	c.659	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095712	0.36952	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.77750	-1.12;-1.12;-1.08;-1.07;-1.08	3.99	-3.28	0.05033	.	1.642320	0.04097	N	0.312196	T	0.61160	0.2325	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P	0.49635	0.926;0.926;0.879;0.926;0.879	B;B;B;B;B	0.41202	0.35;0.35;0.19;0.35;0.19	T	0.57406	-0.7817	10	0.66056	D	0.02	.	4.4004	0.11383	0.0:0.3411:0.306:0.3529	.	220;220;220;220;220	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	I	220	ENSP00000442029:R220I;ENSP00000262467:R220I;ENSP00000269280:R220I;ENSP00000346390:R220I;ENSP00000324366:R220I	ENSP00000262467:R220I	R	-	2	0	NLRP1	5404081	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	-1.415000	0.02469	-0.697000	0.05092	0.460000	0.39030	AGA	NLRP1	-	NULL		0.478	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5463357	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.001	A	A	5463357	C	A	5463357	3	1	44	1	0	0	0	0	1	0	0	0	10495	913	32	3	3893	3	NLRP1	17	5463357	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		5463357	75731853	115	6092										
FXR2	9513	genome.wustl.edu	37	chr17	7495874	7495874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtccgattaccacggttacgGcggcggcggctgcgattacg	15	12	0	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr17:7495874G>A	ENST00000250113.7	-	15	2107	c.1773C>T	c.(1771-1773)cgC>cgT	p.R591R	SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CACGGTTACGGCGGCGGCGGC	0.542																																																	0													147	153	151					17																	7495874		2023	4164	6187	SO:0001819	synonymous_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773C>T	17.37:g.7495874G>A			B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.R591	ENST00000250113.7	37	c.1773	CCDS45604.1	17																																																																																			FXR2	-	NULL		0.542	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1	G			7495874	-1	no_errors	ENST00000250113	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7495874	G	A	7495874	2	1	44	1	0	0	0	0	0	0	0	1	6134	1190	42	4		4	FXR2	17	7495874	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	2032517	7495874	73699336	116	6093										
SMCR8	140775	genome.wustl.edu	37	chr17	18219778	18219778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gccaacgacaaaggcttttaCtcatctcaggcaattgagaa	8	10	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr17:18219778C>T	ENST00000406438.3	+	1	1155	c.675C>T	c.(673-675)taC>taT	p.Y225Y	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	225						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAGGCTTTTACTCATCTCAGG	0.463																																																	0													59	55	56					17																	18219778		2203	4300	6503	SO:0001819	synonymous_variant	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.675C>T	17.37:g.18219778C>T			A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	pfam_Folliculin	p.Y225	ENST00000406438.3	37	c.675	CCDS11195.2	17																																																																																			SMCR8	-	NULL		0.463	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	C	NM_144775		18219778	1	no_errors	ENST00000406438	ensembl	human	known	70_37	silent	SNP	0.991	T	T	18219778	C	T	18219778	2	4	44	1	0	0	0	0	0	0	0	1	14822	576	20	4		4	SMCR8	17	18219778	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	10723904	18219778	62975432	117	6094										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40850830	40850830	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cagcagctcccaaccaagctCcagcctcagccccagcccca	6	22	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr17:40850830C>G	ENST00000264638.4	+	24	4274	c.4057C>G	c.(4057-4059)Cca>Gca	p.P1353A	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1353					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAACCAagctccagcctcagc	0.662																																																	0													27	26	26					17																	40850830		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.4057C>G	17.37:g.40850830C>G	ENSP00000264638:p.Pro1353Ala			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P1353A	ENST00000264638.4	37	c.4057	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303531	0.01353	.	.	ENSG00000108797	ENST00000264638	D	0.89123	-2.47	4.79	1.38	0.22167	.	0.204961	0.24590	N	0.037235	T	0.71099	0.3300	N	0.08118	0	0.21220	N	0.999757	B	0.02656	0.0	B	0.01281	0.0	T	0.56768	-0.7924	10	0.30078	T	0.28	.	2.878	0.05638	0.1867:0.5295:0.1812:0.1025	.	1353	P78357	CNTP1_HUMAN	A	1353	ENSP00000264638:P1353A	ENSP00000264638:P1353A	P	+	1	0	CNTNAP1	38104356	0.057000	0.20700	0.713000	0.30519	0.187000	0.23431	1.295000	0.33377	0.970000	0.38263	0.561000	0.74099	CCA	CNTNAP1	-	NULL		0.662	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	C	NM_003632		40850830	1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	0.174	G	G	40850830	C	G	40850830	3	3	44	1	0	0	0	0	1	0	0	0	3651	855	30	1	4151	1	CNTNAP1	17	40850830	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	22631052	40850830	40344380	118	6095										
UBE2O	63893	genome.wustl.edu	37	chr17	74395865	74395865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccatcgggcgtctcctcaggGctggcagactccgcttcgct	12	16	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr17:74395865G>T	ENST00000319380.7	-	9	1357	c.1293C>A	c.(1291-1293)agC>agA	p.S431R	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	431					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCTCCTCAGGGCTGGCAGACT	0.622																																																	0													102	109	107					17																	74395865		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1293C>A	17.37:g.74395865G>T	ENSP00000323687:p.Ser431Arg		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S431R	ENST00000319380.7	37	c.1293	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	G	5.838	0.338755	0.11069	.	.	ENSG00000175931	ENST00000319380	T	0.72725	-0.68	4.98	-1.3	0.09259	.	0.550782	0.19715	N	0.107706	T	0.45357	0.1338	N	0.19112	0.55	0.24481	N	0.99434	B	0.20671	0.047	B	0.14578	0.011	T	0.27806	-1.0063	10	0.10902	T	0.67	-28.3015	7.3773	0.26835	0.3344:0.1198:0.5459:0.0	.	431	Q9C0C9	UBE2O_HUMAN	R	431	ENSP00000323687:S431R	ENSP00000323687:S431R	S	-	3	2	UBE2O	71907460	1.000000	0.71417	0.883000	0.34634	0.019000	0.09904	0.419000	0.21247	-0.069000	0.12931	-1.332000	0.01269	AGC	UBE2O	-	NULL		0.622	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	G	NM_022066		74395865	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	0.723	T	T	74395865	G	T	74395865	3	4	44	1	0	0	0	0	1	0	0	0	16899	1194	42	4	2625	4	UBE2O	17	74395865	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	33545035	74395865	6799345	119	6096										
NPLOC4	55666	genome.wustl.edu	37	chr17	79564302	79564302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tgtagcggacggtaccctttCgggtatcttctgagacgagg	14	9	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr17:79564302C>T	ENST00000331134.6	-	10	1177	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	NPLOC4_ENST00000539314.1_Missense_Mutation_p.R160Q|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R321Q	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	321					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGTACCCTTTCGGGTATCTTC	0.478																																																	0													124	122	123					17																	79564302		2005	4170	6175	SO:0001583	missense	55666			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.962G>A	17.37:g.79564302C>T	ENSP00000331487:p.Arg321Gln		Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.R321Q	ENST00000331134.6	37	c.962	CCDS45812.1	17	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095828	0.56075	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.54	5.54	0.83059	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.43152	1.355	0.80722	D	1	B;B;P	0.34757	0.096;0.412;0.467	B;B;B	0.23275	0.028;0.026;0.045	T	0.43130	-0.9410	9	0.15952	T	0.53	-11.8617	19.9063	0.97008	0.0:1.0:0.0:0.0	.	160;321;321	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	Q	321;320;160	.	ENSP00000331487:R321Q	R	-	2	0	NPLOC4	77174740	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	7.314000	0.78988	2.774000	0.95407	0.644000	0.83932	CGA	NPLOC4	-	pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4		0.478	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	HGNC	protein_coding	OTTHUMT00000440140.1	C			79564302	-1	no_errors	ENST00000374747	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79564302	C	T	79564302	3	4	44	1	0	0	0	0	1	0	0	0	10610	884	31	1	896	1	NPLOC4	17	79564302	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	5168437	79564302	1630908	120	6097										
LPIN2	9663	genome.wustl.edu	37	chr18	2931377	2931377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	agctgcgcttcccacggactGtggggactgggagccagaga	16	11	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr18:2931377G>T	ENST00000261596.4	-	9	1571	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	445					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCCACGGACTGTGGGGACTGG	0.602																																																	0													49	37	41					18																	2931377		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1333C>A	18.37:g.2931377G>T	ENSP00000261596:p.Gln445Lys		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.Q445K	ENST00000261596.4	37	c.1333	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.275024	0.95459	.	.	ENSG00000101577	ENST00000261596	T	0.80824	-1.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	L	0.53561	1.675	0.80722	D	1	D	0.54772	0.968	P	0.49953	0.627	T	0.77824	-0.2444	10	0.18710	T	0.47	-23.3326	20.4018	0.98996	0.0:0.0:1.0:0.0	.	445	Q92539	LPIN2_HUMAN	K	445	ENSP00000261596:Q445K	ENSP00000261596:Q445K	Q	-	1	0	LPIN2	2921377	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.316000	0.96319	2.815000	0.96918	0.650000	0.86243	CAG	LPIN2	-	NULL		0.602	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	G	NM_014646		2931377	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2931377	G	T	2931377	3	4	44	1	0	0	0	0	1	0	0	0	8942	1386	48	4	1405	4	LPIN2	18	2931377	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		2931377	75145871	121	6098										
ZNF519	162655	genome.wustl.edu	37	chr18	14105758	14105758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	atatttcactgatttttctcCagtgttaattatcttatgtc	4	7	3	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr18:14105758C>T	ENST00000590202.1	-	3	933	c.781G>A	c.(781-783)Gga>Aga	p.G261R	ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	261					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GATTTTTCTCCAGTGTTAATT	0.323																																																	0													44	49	47					18																	14105758		2202	4300	6502	SO:0001583	missense	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.781G>A	18.37:g.14105758C>T	ENSP00000464872:p.Gly261Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G261R	ENST00000590202.1	37	c.781	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227974	0.22542	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	.	.	.	.	.	T	0.35248	0.0925	L	0.42686	1.345	0.25427	N	0.988216	D	0.55800	0.973	P	0.49799	0.622	T	0.18053	-1.0349	8	0.56958	D	0.05	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	261	Q8TB69	ZN519_HUMAN	R	261	.	ENSP00000307908:G261R	G	-	1	0	ZNF519	14095758	0.018000	0.18449	0.004000	0.12327	0.279000	0.26890	2.803000	0.47924	0.661000	0.30985	0.089000	0.15464	GGA	ZNF519	-	NULL		0.323	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	C	NM_145287		14105758	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14105758	C	T	14105758	3	4	44	1	0	0	0	0	1	0	0	0	17994	603	21	4	845	4	ZNF519	18	14105758	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	11174381	14105758	63971490	122	6099										
DTNA	1837	genome.wustl.edu	37	chr18	32438352	32438352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccaccctgctggcagaactcCggctcctcaggtaggagaga	12	14	1	2	rs371363393		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr18:32438352C>T	ENST00000399113.3	+	15	1555	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	DTNA_ENST00000598142.1_Missense_Mutation_p.R462W|DTNA_ENST00000591182.1_Missense_Mutation_p.R167W|DTNA_ENST00000556414.3_Missense_Mutation_p.R171W|DTNA_ENST00000269192.7_Missense_Mutation_p.R228W|DTNA_ENST00000348997.5_Missense_Mutation_p.R516W|DTNA_ENST00000444659.1_Missense_Mutation_p.R519W|DTNA_ENST00000595022.1_Missense_Mutation_p.R459W|DTNA_ENST00000269190.7_Missense_Mutation_p.R520W|DTNA_ENST00000596745.1_Missense_Mutation_p.R269W|DTNA_ENST00000601125.1_Missense_Mutation_p.R141W|DTNA_ENST00000598334.1_Missense_Mutation_p.R459W|DTNA_ENST00000269191.6_Missense_Mutation_p.R519W|DTNA_ENST00000598774.1_Missense_Mutation_p.R462W|DTNA_ENST00000599844.1_Missense_Mutation_p.R141W|DTNA_ENST00000399121.5_Missense_Mutation_p.R459W|DTNA_ENST00000399097.3_Missense_Mutation_p.R167W|DTNA_ENST00000597599.1_Missense_Mutation_p.R459W|DTNA_ENST00000597674.1_Missense_Mutation_p.R141W|DTNA_ENST00000283365.9_Missense_Mutation_p.R462W			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	519					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R520R(1)|p.R519R(1)|p.R167R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGCAGAACTCCGGCTCCTCAG	0.507																																																	3	Substitution - coding silent(3)	lung(3)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	53	54		1375,1375,1375,1375,682,625,511,805,1555,1555,1384,1546,1384,499,421	4.6	1	18		54	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DTNA	NM_001198938.1,NM_001198939.1,NM_001198940.1,NM_001198941.1,NM_001198942.1,NM_001198943.1,NM_001198944.1,NM_001198945.1,NM_001390.4,NM_001391.5,NM_032975.3,NM_032978.6,NM_032979.4,NM_032980.3,NM_032981.4	101,101,101,101,101,101,101,101,101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	459/725,459/691,459/684,459/511,228/453,209/434,171/396,269/321,519/744,519/571,462/687,516/568,462/514,167/392,141/193	32438352	1,13005	2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1555C>T	18.37:g.32438352C>T	ENSP00000382064:p.Arg519Trp		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R520W	ENST00000399113.3	37	c.1558	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956598	0.73902	2.27E-4	0.0	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.25085	1.91;1.82;1.89;1.82;1.89;1.82	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.59436	1.845	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.991;0.988;0.999;0.998;0.999;0.991;0.998;0.997;0.999;0.993;0.987;0.99;0.953	T	0.49495	-0.8934	10	0.87932	D	0	-18.23	14.631	0.68655	0.2638:0.7362:0.0:0.0	.	171;228;209;269;141;519;519;459;462;167;516;459;470;462;462	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	W	462;462;459;520;167;516;519;519;519;519;228;167;171	ENSP00000283365:R462W;ENSP00000269190:R520W;ENSP00000336682:R516W;ENSP00000405819:R519W;ENSP00000269191:R519W;ENSP00000382064:R519W	ENSP00000269190:R520W	R	+	1	2	DTNA	30692350	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.385000	0.44371	1.294000	0.44707	0.650000	0.86243	CGG	DTNA	-	pirsf_Distrobrevin		0.507	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32438352	1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	0.993	T	T	32438352	C	T	32438352	3	4	44	1	0	0	0	0	1	0	0	0	4798	643	23	2	1648	2	DTNA	18	32438352	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	18332594	32438352	45638896	123	6100										
DCC	1630	genome.wustl.edu	37	chr18	50683791	50683791	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tccctgtcttggtttccagcCgatttgtccgtctcagctgg	10	13	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr18:50683791C>T	ENST00000442544.2	+	8	1943	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R98*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R291*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	443	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTTCCAGCCGATTTGTCCG	0.527																																																	0													164	150	155					18																	50683791		2203	4300	6503	SO:0001587	stop_gained	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1327C>T	18.37:g.50683791C>T	ENSP00000389140:p.Arg443*			Nonsense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R443*	ENST00000442544.2	37	c.1327	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.415037	0.96092	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0448	0.89329	0.0:1.0:0.0:0.0	.	.	.	.	X	443;376;291	.	ENSP00000304146:R376X	R	+	1	2	DCC	48937789	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	7.027000	0.76463	2.567000	0.86603	0.561000	0.74099	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		50683791	1	no_errors	ENST00000442544	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	50683791	C	T	50683791	4	4	44	1	0	0	0	0	0	1	0	0	4287	644	23	2	1357	2	DCC	18	50683791	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	18245439	50683791	27393457	124	6101										
THOP1	7064	genome.wustl.edu	37	chr19	2805036	2805036	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gggctccccgaggactttctGaactccctggagaagatgga	13	11	1	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:2805036G>C	ENST00000307741.6	+	6	815	c.612G>C	c.(610-612)ctG>ctC	p.L204L	THOP1_ENST00000586677.1_Silent_p.L83L	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	204					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACTTTCTGAACTCCCTGG	0.587																																																	0													61	48	53					19																	2805036		2200	4296	6496	SO:0001819	synonymous_variant	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.612G>C	19.37:g.2805036G>C			B3KSE2|Q9UCB3	Silent	SNP	pfam_Pept_M3A_M3B	p.L204	ENST00000307741.6	37	c.612	CCDS12095.1	19																																																																																			THOP1	-	NULL		0.587	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2805036	1	no_errors	ENST00000307741	ensembl	human	known	70_37	silent	SNP	0.998	C	C	2805036	G	C	2805036	2	2	44	1	0	0	0	0	0	0	0	1	15901	1277	45	1		1	THOP1	19	2805036	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		2805036	56323947	125	6102										
MUC16	94025	genome.wustl.edu	37	chr19	9014541	9014541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cagctcctcaccattgacatAgagactgtttctgtccaggg	9	12	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:9014541A>G	ENST00000397910.4	-	31	38637	c.38434T>C	c.(38434-38436)Tat>Cat	p.Y12812H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12814	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATTGACATAGAGACTGTTT	0.557																																																	0													194	157	169					19																	9014541		1945	4138	6083	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38434T>C	19.37:g.9014541A>G	ENSP00000381008:p.Tyr12812His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Y12812H	ENST00000397910.4	37	c.38434	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	7.732	0.699516	0.15106	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	3.03	3.03	0.35002	.	.	.	.	.	T	0.54886	0.1886	M	0.85542	2.76	.	.	.	D	0.76494	0.999	D	0.87578	0.998	T	0.67321	-0.5700	8	0.87932	D	0	.	7.7341	0.28804	1.0:0.0:0.0:0.0	.	12812	B5ME49	.	H	12812	ENSP00000381008:Y12812H	ENSP00000381008:Y12812H	Y	-	1	0	MUC16	8875541	0.984000	0.35163	0.975000	0.42487	0.035000	0.12851	3.298000	0.51818	1.367000	0.46095	0.254000	0.18369	TAT	MUC16	-	NULL		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	A	NM_024690		9014541	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.994	G	G	9014541	A	G	9014541	3	3	44	1	0	0	0	0	1	0	0	0	9996	420	15	5	5305	5	MUC16	19	9014541	Missense_Mutation	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	6209505	9014541	50114442	126	6103										
NOTCH3	4854	genome.wustl.edu	37	chr19	15292550	15292550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tcgtgggccggcgaaaccagGgaggcaggagcaggaaaagg	19	8	0	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:15292550G>A	ENST00000263388.2	-	17	2704	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	877	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCGAAACCAGGGAGGCAGGAG	0.667																																																	0													34	29	31					19																	15292550		2187	4291	6478	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2629C>T	19.37:g.15292550G>A	ENSP00000263388:p.Pro877Ser		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.P877S	ENST00000263388.2	37	c.2629	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526409	0.27299	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91351	-2.83	5.45	0.757	0.18427	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.547150	0.04532	N	0.386524	D	0.89908	0.6851	M	0.62088	1.915	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.27170	0.032;0.077	T	0.74985	-0.3477	10	0.41790	T	0.15	.	10.198	0.43067	0.0:0.3572:0.3978:0.245	.	828;877	Q59FL3;Q9UM47	.;NOTC3_HUMAN	S	877;827	ENSP00000263388:P877S	ENSP00000263388:P877S	P	-	1	0	NOTCH3	15153550	0.674000	0.27549	0.058000	0.19502	0.654000	0.38779	1.238000	0.32707	0.007000	0.14760	-0.225000	0.12378	CCT	NOTCH3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15292550	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	missense	SNP	0.005	A	A	15292550	G	A	15292550	3	1	44	1	0	0	0	0	1	0	0	0	10574	1232	43	4	4404	4	NOTCH3	19	15292550	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	6278009	15292550	43836433	127	6104										
ZNF99	7652	genome.wustl.edu	37	chr19	22939472	22939472	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tatgtttcataagggtcgagAaattgttaaaacctttgcca	8	6	1	1	rs55891931		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:22939472A>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.F900S|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTCGAGAAATTGTTAAA	0.353																																																	0													40	53	49					19																	22939472		1825	4165	5990	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939472A>G			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F900S	ENST00000596209.1	37	c.2699	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.974208	0.00047	.	.	ENSG00000213973	ENST00000397104	T	0.36157	1.27	0.503	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14657	0.0354	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.25676	-1.0125	7	0.12766	T	0.61	.	.	.	.	rs55891931	900	A8MXY4	ZNF99_HUMAN	S	900	ENSP00000380293:F900S	ENSP00000380293:F900S	F	-	2	0	ZNF99	22731312	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-6.020000	0.00085	-2.544000	0.00483	-1.973000	0.00462	TTC	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	A	XM_065124		22939472	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22939472	A	G	22939472	1	3	44	0	1	0	0	0	0	0	0	0	18234	246	9	5		5	ZNF99	19	22939472	IGR	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	7646922	22939472	36189511	128	6105										
TBCB	1155	genome.wustl.edu	37	chr19	36606994	36606994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cttcctgcatggaactggagCtgtatggagttgacgacaag	13	8	0	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:36606994C>G	ENST00000221855.3	+	2	741	c.166C>G	c.(166-168)Ctg>Gtg	p.L56V	TBCB_ENST00000586868.1_Missense_Mutation_p.L5V|TBCB_ENST00000585746.1_Missense_Mutation_p.L5V|TBCB_ENST00000589996.1_Missense_Mutation_p.L56V|TBCB_ENST00000392178.4_3'UTR|POLR2I_ENST00000221859.4_5'Flank	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	56					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAACTGGAGCTGTATGGAGT	0.597																																																	0													91	67	75					19																	36606994		2203	4300	6503	SO:0001583	missense	1155			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.166C>G	19.37:g.36606994C>G	ENSP00000221855:p.Leu56Val		O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L56V	ENST00000221855.3	37	c.166	CCDS12488.1	19	.	.	.	.	.	.	.	.	.	.	C	8.033	0.762098	0.15914	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.93366	-3.21	5.43	4.4	0.53042	.	0.099075	0.51477	D	0.000084	D	0.91553	0.7332	M	0.74467	2.265	0.54753	D	0.999986	B;B	0.33857	0.429;0.391	B;B	0.31442	0.052;0.13	D	0.89519	0.3777	10	0.35671	T	0.21	-21.1121	12.2276	0.54470	0.0:0.9164:0.0:0.0836	.	5;56	Q6FGY5;Q99426	.;TBCB_HUMAN	V	56	ENSP00000221855:L56V	ENSP00000221855:L56V	L	+	1	2	TBCB	41298834	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	1.464000	0.35288	1.300000	0.44818	-0.657000	0.03884	CTG	TBCB	-	NULL		0.597	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCB	HGNC	protein_coding	OTTHUMT00000156291.2	C	NM_001281		36606994	1	no_errors	ENST00000221855	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36606994	C	G	36606994	3	3	44	1	0	0	0	0	1	0	0	0	15660	796	28	4	172	4	TBCB	19	36606994	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	13667522	36606994	22521989	129	6106										
HIPK4	147746	genome.wustl.edu	37	chr19	40895762	40895762	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccgaaggtccccttgcccaaGacctcgatgatgtcgtagca	10	14	0	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:40895762G>C	ENST00000291823.2	-	1	332	c.48C>G	c.(46-48)gtC>gtG	p.V16V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCTTGCCCAAGACCTCGATGA	0.637																																																	0													72	58	63					19																	40895762		2203	4300	6503	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.48C>G	19.37:g.40895762G>C			A8K863|Q96M54	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V16	ENST00000291823.2	37	c.48	CCDS12555.1	19																																																																																			HIPK4	-	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		0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	G	NM_144685		40895762	-1	no_errors	ENST00000291823	ensembl	human	known	70_37	silent	SNP	0.986	C	C	40895762	G	C	40895762	2	2	44	1	0	0	0	0	0	0	0	1	7139	929	33	1		1	HIPK4	19	40895762	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	4288768	40895762	18233221	130	6107										
SHKBP1	92799	genome.wustl.edu	37	chr19	41096211	41096211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccttcacagtgctggagtgcGagggctcccggcggctcggc	16	14	1	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:41096211G>A	ENST00000291842.5	+	16	1700	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	SHKBP1_ENST00000597649.1_3'UTR|LTBP4_ENST00000545697.1_5'Flank|SHKBP1_ENST00000600733.1_Missense_Mutation_p.E526K|LTBP4_ENST00000204005.9_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	551					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGAGTGCGAGGGCTCCCG	0.701																																																	0													17	20	19					19																	41096211		2198	4294	6492	SO:0001583	missense	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1651G>A	19.37:g.41096211G>A	ENSP00000291842:p.Glu551Lys		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.E551K	ENST00000291842.5	37	c.1651	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	g	24.7	4.560045	0.86335	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.49139	0.79	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.69223	0.3087	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.78314	0.991;0.981;0.988;0.986;0.972	T	0.74685	-0.3582	10	0.87932	D	0	-20.4062	16.1117	0.81270	0.0:0.0:1.0:0.0	.	429;331;388;551;551	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	K	551;331	ENSP00000291842:E551K	ENSP00000291842:E551K	E	+	1	0	SHKBP1	45788051	1.000000	0.71417	0.935000	0.37517	0.411000	0.31082	9.062000	0.93920	2.329000	0.79093	0.306000	0.20318	GAG	SHKBP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.701	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	G	NM_138392		41096211	1	no_errors	ENST00000291842	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41096211	G	A	41096211	3	1	44	1	0	0	0	0	1	0	0	0	14314	1059	37	1	1713	1	SHKBP1	19	41096211	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	200449	41096211	18032772	131	6108										
DMWD	1762	genome.wustl.edu	37	chr19	46289788	46289788	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	aggcccccaaagtagctcttCatgagcccacgcaggagcat	10	14	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:46289788C>T	ENST00000270223.6	-	3	1011	c.966G>A	c.(964-966)atG>atA	p.M322I	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.M322I|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	322										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGTAGCTCTTCATGAGCCCAC	0.637																																																	0													53	57	55					19																	46289788		2203	4300	6503	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.966G>A	19.37:g.46289788C>T	ENSP00000270223:p.Met322Ile			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M322I	ENST00000270223.6	37	c.966	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255089	0.59321	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.25250	1.81;1.81	3.81	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	N	0.16307	0.4	0.54753	D	0.999986	P;P;P	0.49447	0.924;0.908;0.851	P;D;P	0.64144	0.878;0.922;0.838	T	0.13202	-1.0518	10	0.51188	T	0.08	-30.9731	13.5872	0.61937	0.0:1.0:0.0:0.0	.	7;322;322	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	I	322	ENSP00000366964:M322I;ENSP00000270223:M322I	ENSP00000270223:M322I	M	-	3	0	DMWD	50981628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.223000	0.78033	2.165000	0.68154	0.462000	0.41574	ATG	DMWD	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.637	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	C	NM_004943		46289788	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46289788	C	T	46289788	3	4	44	1	0	0	0	0	1	0	0	0	4603	826	29	1	1070	1	DMWD	19	46289788	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	5193577	46289788	12839195	132	6109										
MYBPC2	4606	genome.wustl.edu	37	chr19	50957284	50957284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tggctgcgttcaggtattcaCgaccaccgagggcaggaccc	13	13	2	0	rs539054221		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:50957284C>T	ENST00000357701.5	+	17	1808	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	586	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGTATTCACGACCACCGAG	0.612													c|||	1	0.000199681	8e-04	0	5008	,	,		16791	0		0	False		,,,				2504	0																0													22	26	24					19																	50957284		2084	4201	6285	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1757C>T	19.37:g.50957284C>T	ENSP00000350332:p.Thr586Met		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T586M	ENST00000357701.5	37	c.1757	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	9.300	1.052822	0.19907	.	.	ENSG00000086967	ENST00000357701	T	0.40756	1.02	3.09	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.641649	0.11207	U	0.588070	T	0.39989	0.1099	M	0.67700	2.07	0.28772	N	0.900316	B	0.27286	0.174	B	0.23574	0.047	T	0.29088	-1.0023	10	0.21014	T	0.42	.	11.5404	0.50663	0.0:1.0:0.0:0.0	.	586	Q14324	MYPC2_HUMAN	M	586	ENSP00000350332:T586M	ENSP00000350332:T586M	T	+	2	0	MYBPC2	55649096	0.195000	0.23338	0.034000	0.17996	0.029000	0.11900	4.688000	0.61715	1.771000	0.52183	0.394000	0.25966	ACG	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50957284	1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	0.017	T	T	50957284	C	T	50957284	3	4	44	1	0	0	0	0	1	0	0	0	10035	536	19	2	1823	2	MYBPC2	19	50957284	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	4667496	50957284	8171699	133	6110										
NKG7	4818	genome.wustl.edu	37	chr19	51875736	51875736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtgctcaaagcaatcaggcaGaacatcaggcccagggagcc	12	12	3	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:51875736G>A	ENST00000221978.5	-	1	233	c.54C>T	c.(52-54)ttC>ttT	p.F18F	NKG7_ENST00000595217.1_Silent_p.F18F|NKG7_ENST00000600427.1_Silent_p.F18F	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	18						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAATCAGGCAGAACATCAGGC	0.617																																																	0													63	66	65					19																	51875736		2203	4300	6503	SO:0001819	synonymous_variant	4818				CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.54C>T	19.37:g.51875736G>A				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin	p.F18	ENST00000221978.5	37	c.54	CCDS12830.1	19																																																																																			NKG7	-	pfam_PMP22/EMP/MP20/Claudin		0.617	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKG7	HGNC	protein_coding	OTTHUMT00000464260.2	G	NM_005601		51875736	-1	no_errors	ENST00000221978	ensembl	human	known	70_37	silent	SNP	0.000	A	A	51875736	G	A	51875736	2	1	44	1	0	0	0	0	0	0	0	1	10467	933	33	1		1	NKG7	19	51875736	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	918452	51875736	7253247	134	6111										
LILRA2	11027	genome.wustl.edu	37	chr19	55086222	55086222	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctacagcaaacccaccctctCagctctgcccagccctgtgg	7	19	2	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:55086222C>G	ENST00000251377.3	+	5	510	c.377C>G	c.(376-378)tCa>tGa	p.S126*	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.S126*|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.S114*|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.S126*			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	126	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCACCCTCTCAGCTCTGCCC	0.567																																																	0													126	121	122					19																	55086222		2203	4300	6503	SO:0001587	stop_gained	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.377C>G	19.37:g.55086222C>G	ENSP00000251377:p.Ser126*		O75020	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.S126*	ENST00000251377.3	37	c.377	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885941	0.51908	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.93	1.85	0.25348	.	0.638257	0.13460	N	0.386259	.	.	.	.	.	.	0.22081	N	0.999377	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.2118	0.20633	0.0:0.8502:0.0:0.1498	.	.	.	.	X	126;126;126;126;114	.	ENSP00000251376:S126X	S	+	2	0	LILRA2	59778034	0.379000	0.25123	0.070000	0.20053	0.079000	0.17450	0.970000	0.29383	0.550000	0.28991	0.508000	0.49915	TCA	LILRA2	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	C			55086222	1	no_errors	ENST00000251377	ensembl	human	known	70_37	nonsense	SNP	0.228	G	G	55086222	C	G	55086222	4	3	44	1	0	0	0	0	0	1	0	0	8805	838	29	1	391	1	LILRA2	19	55086222	Nonsense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	3210486	55086222	4042761	135	6112										
NLRP13	126204	genome.wustl.edu	37	chr19	56423094	56423094	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	cagaatttccaagtccctttCaaggatgtgactgctaacag	8	10	1	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:56423094C>T	ENST00000342929.3	-	5	2088	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	NLRP13_ENST00000588751.1_Missense_Mutation_p.E697K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	697							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGTCCCTTTCAAGGATGTGA	0.383																																																	0													85	94	91					19																	56423094		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2089G>A	19.37:g.56423094C>T	ENSP00000343891:p.Glu697Lys		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E697K	ENST00000342929.3	37	c.2089	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	3.444	-0.113422	0.06881	.	.	ENSG00000173572	ENST00000342929	D	0.87966	-2.32	1.82	-2.41	0.06562	.	.	.	.	.	T	0.71213	0.3313	N	0.20807	0.61	0.09310	N	1	B	0.24533	0.105	B	0.19391	0.025	T	0.57573	-0.7788	9	0.05436	T	0.98	.	9.3607	0.38195	0.0:0.6723:0.3277:0.0	.	697	Q86W25	NAL13_HUMAN	K	697	ENSP00000343891:E697K	ENSP00000343891:E697K	E	-	1	0	NLRP13	61114906	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.194000	0.09559	-0.460000	0.07003	-0.386000	0.06593	GAA	NLRP13	-	NULL		0.383	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	C	NM_176810		56423094	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.000	T	T	56423094	C	T	56423094	3	4	44	1	0	0	0	0	1	0	0	0	10499	835	29	1	1068	1	NLRP13	19	56423094	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	1336872	56423094	2705889	136	6113			2	29		3	3	397	C		1.785373e-06
NLRP13	126204	genome.wustl.edu	37	chr19	56423238	56423238	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	caacatcttctttgtgaagtCttcctcctgggactcgtgta	8	11	3	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:56423238C>T	ENST00000342929.3	-	5	1944	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	NLRP13_ENST00000588751.1_Missense_Mutation_p.D649N	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	649							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTGTGAAGTCTTCCTCCTGG	0.413																																																	0													107	102	104					19																	56423238		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1945G>A	19.37:g.56423238C>T	ENSP00000343891:p.Asp649Asn		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D649N	ENST00000342929.3	37	c.1945	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	6.086	0.384146	0.11524	.	.	ENSG00000173572	ENST00000342929	D	0.88277	-2.36	2.48	-0.0766	0.13722	.	.	.	.	.	T	0.75860	0.3907	N	0.19112	0.55	0.20074	N	0.999934	B	0.16396	0.017	B	0.09377	0.004	T	0.57539	-0.7794	9	0.12103	T	0.63	.	6.4227	0.21752	0.0:0.7495:0.0:0.2505	.	649	Q86W25	NAL13_HUMAN	N	649	ENSP00000343891:D649N	ENSP00000343891:D649N	D	-	1	0	NLRP13	61115050	0.000000	0.05858	0.410000	0.26471	0.127000	0.20565	-0.724000	0.04947	-0.143000	0.11334	0.543000	0.68304	GAC	NLRP13	-	NULL		0.413	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	C	NM_176810		56423238	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.874	T	T	56423238	C	T	56423238	3	4	44	1	0	0	0	0	1	0	0	0	10499	913	32	1	1212	1	NLRP13	19	56423238	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	144	56423238	2705745	137	6114			2	29		3	3	397	C		1.785373e-06
NLRP13	126204	genome.wustl.edu	37	chr19	56423490	56423490	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ttgcagtaacatcttcatctCttgtggctttgtggaatggg	11	7	3	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr19:56423490C>G	ENST00000342929.3	-	5	1692	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	NLRP13_ENST00000588751.1_Missense_Mutation_p.E565Q	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	565							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCTTCATCTCTTGTGGCTTT	0.433																																																	0													127	136	133					19																	56423490		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1693G>C	19.37:g.56423490C>G	ENSP00000343891:p.Glu565Gln		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E565Q	ENST00000342929.3	37	c.1693	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270187	0.40194	.	.	ENSG00000173572	ENST00000342929	D	0.90324	-2.65	2.48	2.48	0.30137	.	.	.	.	.	D	0.89185	0.6643	L	0.43923	1.385	0.21064	N	0.999793	D	0.56035	0.974	P	0.52881	0.712	T	0.79446	-0.1800	9	0.32370	T	0.25	.	9.0117	0.36146	0.0:1.0:0.0:0.0	.	565	Q86W25	NAL13_HUMAN	Q	565	ENSP00000343891:E565Q	ENSP00000343891:E565Q	E	-	1	0	NLRP13	61115302	0.002000	0.14202	0.438000	0.26821	0.074000	0.17049	0.200000	0.17257	1.363000	0.46019	0.543000	0.68304	GAG	NLRP13	-	NULL		0.433	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	C	NM_176810		56423490	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.535	G	G	56423490	C	G	56423490	3	3	44	1	0	0	0	0	1	0	0	0	10499	922	32	1	1464	1	NLRP13	19	56423490	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	252	56423490	2705493	138	6115			2	29		3	3	397	C		1.785373e-06
PPP1R16B	26051	genome.wustl.edu	37	chr20	37536814	37536814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ggacatcagggagaccaggaCagaccaagagaataaggacc	13	9	1	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr20:37536814C>A	ENST00000299824.1	+	10	1361	c.1172C>A	c.(1171-1173)aCa>aAa	p.T391K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.T349K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	391					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAGACCAGGACAGACCAAGAG	0.597																																																	0													96	88	91					20																	37536814		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1172C>A	20.37:g.37536814C>A	ENSP00000299824:p.Thr391Lys		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T391K	ENST00000299824.1	37	c.1172	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.209585|4.209585	0.79240|0.79240	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.71579	.|-0.34;-0.58	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.164261	.|0.56097	.|D	.|0.000034	T|T	0.52821|0.52821	0.1758|0.1758	N|N	0.08118|0.08118	0|0	0.46078|0.46078	D|D	0.99885|0.99885	.|B;B	.|0.25441	.|0.126;0.002	.|B;B	.|0.18263	.|0.021;0.003	T|T	0.49153|0.49153	-0.8969|-0.8969	5|10	.|0.19147	.|T	.|0.46	.|.	20.0987|20.0987	0.97860|0.97860	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|349;391	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	K|K	292|391;349	.|ENSP00000299824:T391K;ENSP00000362428:T349K	.|ENSP00000299824:T391K	Q|T	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36970228|36970228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.395000|7.395000	0.79876|0.79876	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	CAG|ACA	PPP1R16B	-	pirsf_Pase-1_reg_su_16AB_euk		0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	C	NM_015568		37536814	1	no_errors	ENST00000299824	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37536814	C	A	37536814	3	1	44	1	0	0	0	0	1	0	0	0	12393	478	17	4	1206	4	PPP1R16B	20	37536814	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		37536814	25488706	139	6116										
SLC17A9	63910	genome.wustl.edu	37	chr20	61588825	61588825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gaaggtcatcctgctgtcagCctctgcctggggctccatca	11	14	4	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr20:61588825C>T	ENST00000370351.4	+	3	421	c.290C>T	c.(289-291)gCc>gTc	p.A97V	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.A91V	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	97					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTGCTGTCAGCCTCTGCCTGG	0.632																																																	0													79	87	84					20																	61588825		2168	4260	6428	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.290C>T	20.37:g.61588825C>T	ENSP00000359376:p.Ala97Val		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A97V	ENST00000370351.4	37	c.290	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.194578	0.94960	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.56941	0.43;0.43;0.43	4.57	4.57	0.56435	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	N	0.25201	0.72	0.80722	D	1	P;D;D	0.56746	0.94;0.977;0.972	P;D;P	0.65323	0.897;0.934;0.891	T	0.45440	-0.9261	10	0.02654	T	1	.	17.3543	0.87331	0.0:1.0:0.0:0.0	.	117;97;91	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	V	97;91;117	ENSP00000359376:A97V;ENSP00000359374:A91V;ENSP00000388215:A117V	ENSP00000359374:A91V	A	+	2	0	SLC17A9	61059270	1.000000	0.71417	0.858000	0.33744	0.933000	0.57130	7.117000	0.77129	2.098000	0.63641	0.561000	0.74099	GCC	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	C	NM_022082		61588825	1	no_errors	ENST00000370351	ensembl	human	known	70_37	missense	SNP	0.997	T	T	61588825	C	T	61588825	3	4	44	1	0	0	0	0	1	0	0	0	14454	739	26	4	300	4	SLC17A9	20	61588825	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	24052011	61588825	1436695	140	6117										
GGT5	2687	genome.wustl.edu	37	chr22	24621550	24621550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gccggaaccccgggggcatcGctcgcataagtccaggagct	14	14	0	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr22:24621550G>A	ENST00000327365.4	-	9	1716	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	GGT5_ENST00000418439.2_Nonsense_Mutation_p.R357*|GGT5_ENST00000398292.3_Nonsense_Mutation_p.R434*|GGT5_ENST00000263112.7_Nonsense_Mutation_p.R402*	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	434					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CGGGGGCATCGCTCGCATAAG	0.647																																																	0													69	58	62					22																	24621550		2203	4300	6503	SO:0001587	stop_gained	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1300C>T	22.37:g.24621550G>A	ENSP00000330080:p.Arg434*		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Nonsense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.R434*	ENST00000327365.4	37	c.1300	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036082	0.35893	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.	.	.	4.36	-1.26	0.09376	.	1.584780	0.03754	N	0.257086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5604	6.5437	0.22394	0.1555:0.0:0.4979:0.3466	.	.	.	.	X	434;402;349;434;357	.	ENSP00000263112:R402X	R	-	1	2	GGT5	22951550	0.946000	0.32159	0.908000	0.35775	0.046000	0.14306	0.008000	0.13197	-0.126000	0.11682	-0.426000	0.05927	CGA	GGT5	-	pfam_GGT_peptidase		0.647	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	G	NM_004121		24621550	-1	no_errors	ENST00000398292	ensembl	human	known	70_37	nonsense	SNP	0.934	A	A	24621550	G	A	24621550	4	1	44	1	0	0	0	0	0	1	0	0	6381	1095	38	2	479	2	GGT5	22	24621550	Nonsense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09		24621550	26683016	141	6118										
SCUBE1	80274	genome.wustl.edu	37	chr22	43606203	43606203	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccagggtagttgggggactcGatgtagccggtgtagtcacc	16	9	1	0	rs148300839		TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr22:43606203G>T	ENST00000360835.4	-	19	2553	c.2427C>A	c.(2425-2427)atC>atA	p.I809I	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	809	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGGGGACTCGATGTAGCCGG	0.662																																																	0													78	65	69					22																	43606203		2203	4300	6503	SO:0001819	synonymous_variant	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2427C>A	22.37:g.43606203G>T			Q5R336	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.I809	ENST00000360835.4	37	c.2427	CCDS14048.1	22																																																																																			SCUBE1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.662	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	G	NM_173050		43606203	-1	no_errors	ENST00000360835	ensembl	human	known	70_37	silent	SNP	0.993	T	T	43606203	G	T	43606203	2	4	44	1	0	0	0	0	0	0	0	1	13974	1048	37	3		3	SCUBE1	22	43606203	Silent	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	18984653	43606203	7698363	142	6119										
MOV10L1	54456	genome.wustl.edu	37	chr22	50599405	50599405	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gccaacaggacccctgttttGgtgctttgctggaatacagt	11	10	0	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chr22:50599405G>C	ENST00000262794.5	+	26	3558	c.3475G>C	c.(3475-3477)Ggt>Cgt	p.G1159R	MOV10L1_ENST00000540615.1_Intron|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G1113R|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G286R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G1159R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1159					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCCCTGTTTTGGTGCTTTGCT	0.517																																																	0													233	216	222					22																	50599405		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3475G>C	22.37:g.50599405G>C	ENSP00000262794:p.Gly1159Arg		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.G1159R	ENST00000262794.5	37	c.3475	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	.	1.156	-0.645362	0.03531	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395852	D;D;T;D	0.91792	-1.62;-1.62;-1.38;-2.91	5.14	2.82	0.32997	.	0.395476	0.32593	N	0.005899	T	0.81108	0.4754	L	0.27053	0.805	0.80722	D	1	B;B;B	0.18741	0.0;0.03;0.017	B;B;B	0.14023	0.001;0.01;0.007	T	0.67715	-0.5599	10	0.11485	T	0.65	-9.6345	2.5637	0.04778	0.2858:0.0:0.4882:0.226	.	286;1113;1159	Q9BXT6-2;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	R	1159;1159;1113;286	ENSP00000438978:G1159R;ENSP00000262794:G1159R;ENSP00000379199:G1113R;ENSP00000379193:G286R	ENSP00000262794:G1159R	G	+	1	0	MOV10L1	48941532	0.980000	0.34600	0.020000	0.16555	0.006000	0.05464	2.148000	0.42235	1.097000	0.41459	0.498000	0.49722	GGT	MOV10L1	-	NULL		0.517	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50599405	1	no_errors	ENST00000262794	ensembl	human	known	70_37	missense	SNP	0.909	C	C	50599405	G	C	50599405	3	2	44	1	0	0	0	0	1	0	0	0	9742	1348	47	4	3630	4	MOV10L1	22	50599405	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	6993202	50599405	705161	143	6120										
SHOX	6473	genome.wustl.edu	37	chrX	595405	595405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gtgaagtcggaggacgaggaCgggcagaccaagctgaaaca	16	8	0	3			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chrX:595405C>T	ENST00000554971.1	+	2	421	c.330C>T	c.(328-330)gaC>gaT	p.D110D	SHOX_ENST00000381578.1_Silent_p.D110D|SHOX_ENST00000334060.3_Silent_p.D110D|SHOX_ENST00000381575.1_Silent_p.D110D			O15266	SHOX_HUMAN	short stature homeobox	110					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGACGAGGACGGGCAGACCA	0.622																																					Ovarian(95;18 1419 12424 14056 28266)												0													124	115	118					X																	595405		2203	4296	6499	SO:0001819	synonymous_variant	6473			U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"Pseudoautosomal regions / PAR1", "Homeoboxes / PRD class"	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.330C>T	X.37:g.595405C>T			O00412|O00413|O15267	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif	p.D110	ENST00000554971.1	37	c.330	CCDS14107.1	X																																																																																			SHOX	-	superfamily_Homeodomain-like		0.622	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOX	HGNC	protein_coding	OTTHUMT00000411999.3	C	NM_000451		595405	1	no_errors	ENST00000381578	ensembl	human	known	70_37	silent	SNP	1.000	T	T	595405	C	T	595405	2	4	44	1	0	0	0	0	0	0	0	1	14318	535	19	2		2	SHOX	23	595405	Silent	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09		595405	154675155	144	6121										
KIF4A	24137	genome.wustl.edu	37	chrX	69521874	69521874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ccagtcgtcccgatctcatgCcatctttacaatctccttag	5	15	3	0			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chrX:69521874C>A	ENST00000374403.3	+	6	723	c.641C>A	c.(640-642)gCc>gAc	p.A214D	KIF4A_ENST00000374388.3_Missense_Mutation_p.A214D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	214	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CGATCTCATGCCATCTTTACA	0.398																																																	0													85	72	76					X																	69521874		2203	4299	6502	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.641C>A	X.37:g.69521874C>A	ENSP00000363524:p.Ala214Asp		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A214D	ENST00000374403.3	37	c.641	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688983	0.88735	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74947	-0.89;-0.89	5.21	5.21	0.72293	Kinesin, motor domain (5);	0.000000	0.52532	D	0.000079	D	0.91188	0.7224	H	0.97682	4.055	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.989;0.99	D	0.94424	0.7643	10	0.87932	D	0	.	16.7677	0.85528	0.0:1.0:0.0:0.0	.	214;214	O95239;O95239-2	KIF4A_HUMAN;.	D	214	ENSP00000363509:A214D;ENSP00000363524:A214D	ENSP00000363509:A214D	A	+	2	0	KIF4A	69438599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.163000	0.67991	0.538000	0.68166	GCC	KIF4A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.398	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	C	NM_012310		69521874	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69521874	C	A	69521874	3	1	44	1	0	0	0	0	1	0	0	0	8323	739	26	4	659	4	KIF4A	23	69521874	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	68926469	69521874	85748686	145	6122										
TEX11	56159	genome.wustl.edu	37	chrX	69772050	69772050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	gggacagagctctacattcgAcgccccatctggcactgaga	11	13	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chrX:69772050A>G	ENST00000395889.2	-	29	2646	c.2491T>C	c.(2491-2493)Tcg>Ccg	p.S831P	TEX11_ENST00000374333.2_Missense_Mutation_p.S816P|TEX11_ENST00000374320.2_Missense_Mutation_p.S506P|TEX11_ENST00000344304.3_Missense_Mutation_p.S831P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	831					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTACATTCGACGCCCCATCT	0.418																																																	0													79	69	72					X																	69772050		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2491T>C	X.37:g.69772050A>G	ENSP00000379226:p.Ser831Pro		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.S831P	ENST00000395889.2	37	c.2491	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	A	2.611	-0.290830	0.05568	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.50001	1.36;1.36;0.76;1.36	4.96	-0.0675	0.13760	.	0.638172	0.14696	N	0.303874	T	0.19846	0.0477	N	0.05383	-0.06	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.15321	-1.0441	9	.	.	.	0.6286	3.2215	0.06717	0.2643:0.0:0.2366:0.4991	.	816;831	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	P	816;831;506;831	ENSP00000363453:S816P;ENSP00000379226:S831P;ENSP00000363440:S506P;ENSP00000340995:S831P	.	S	-	1	0	TEX11	69688775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.812000	0.27211	-0.017000	0.14103	0.486000	0.48141	TCG	TEX11	-	NULL		0.418	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	A			69772050	-1	no_errors	ENST00000344304	ensembl	human	known	70_37	missense	SNP	0.000	G	G	69772050	A	G	69772050	3	3	44	1	0	0	0	0	1	0	0	0	15804	275	10	5	343	5	TEX11	23	69772050	Missense_Mutation	SNP	A	TCGA-C5-A7CK-01A-11D-A32I-09	250176	69772050	85498510	146	6123										
GLRA4	441509	genome.wustl.edu	37	chrX	102979867	102979867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	tggcatcatatccagatgttCgccccataagtttgtctagg	9	10	2	1			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chrX:102979867C>A	ENST00000372617.4	-	2	581	c.161G>T	c.(160-162)cGa>cTa	p.R54L	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	54						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCAGATGTTCGCCCCATAAG	0.498																																																	0													58	56	57					X																	102979867		1912	4139	6051	SO:0001583	missense	441509			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.161G>T	X.37:g.102979867C>A	ENSP00000361700:p.Arg54Leu			Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R54L	ENST00000372617.4	37	c.161	CCDS43980.2	X	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663144	0.67700	.	.	ENSG00000188828	ENST00000372617	T	0.79653	-1.29	5.73	3.96	0.45880	Neurotransmitter-gated ion-channel ligand-binding (3);	0.060042	0.64402	D	0.000002	T	0.74764	0.3759	N	0.12182	0.205	0.44395	D	0.997303	B;B	0.28552	0.215;0.114	P;B	0.48524	0.58;0.417	T	0.66320	-0.5953	10	0.26408	T	0.33	.	8.7737	0.34749	0.0:0.7672:0.1479:0.0849	.	54;13	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	L	54	ENSP00000361700:R54L	ENSP00000361700:R54L	R	-	2	0	GLRA4	102866523	0.960000	0.32886	0.829000	0.32907	0.954000	0.61252	2.638000	0.46562	0.574000	0.29417	0.600000	0.82982	CGA	GLRA4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel		0.498	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	HGNC	protein_coding	OTTHUMT00000057742.2	C	NM_001024452		102979867	-1	no_errors	ENST00000372617	ensembl	human	known	70_37	missense	SNP	0.974	A	A	102979867	C	A	102979867	3	1	44	1	0	0	0	0	1	0	0	0	6476	884	31	3	1219	3	GLRA4	23	102979867	Missense_Mutation	SNP	C	TCGA-C5-A7CK-01A-11D-A32I-09	33207817	102979867	52290693	147	6124										
ZCCHC12	170261	genome.wustl.edu	37	chrX	117959931	117959931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.202702702702703	30	7.27117532861869e-05	2.14374482187241	4.85915492957746	1.30823401950163	0.807308133677986	0.972781229400803	16	ctgagtcaatggtggagaggGcagtcagccctgtggcattt	15	8	2	2			TCGA-C5-A7CK-01A-11D-A32I-09	TCGA-C5-A7CK-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7934ac64-f6c7-4305-b8e3-2443a39b55e7	a5ad3742-8d09-4cba-a882-37abf734f166	g.chrX:117959931G>A	ENST00000310164.2	+	4	1231	c.724G>A	c.(724-726)Gca>Aca	p.A242T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	242					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTGGAGAGGGCAGTCAGCCC	0.493																																																	0													66	56	59					X																	117959931		2203	4300	6503	SO:0001583	missense	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.724G>A	X.37:g.117959931G>A	ENSP00000308921:p.Ala242Thr		B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	superfamily_Znf_CCHC	p.A242T	ENST00000310164.2	37	c.724	CCDS14574.1	X	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930697	0.34096	.	.	ENSG00000174460	ENST00000310164	T	0.52057	0.68	3.1	3.1	0.35709	.	.	.	.	.	T	0.65502	0.2697	M	0.79123	2.44	0.30221	N	0.796831	D	0.89917	1.0	D	0.87578	0.998	T	0.61033	-0.7144	9	0.49607	T	0.09	-3.6395	8.8131	0.34978	0.0:0.0:1.0:0.0	.	242	Q6PEW1	ZCH12_HUMAN	T	242	ENSP00000308921:A242T	ENSP00000308921:A242T	A	+	1	0	ZCCHC12	117843959	1.000000	0.71417	0.982000	0.44146	0.114000	0.19823	3.765000	0.55272	1.807000	0.52817	0.600000	0.82982	GCA	ZCCHC12	-	NULL		0.493	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1	G	NM_173798		117959931	1	no_errors	ENST00000310164	ensembl	human	known	70_37	missense	SNP	0.972	A	A	117959931	G	A	117959931	3	1	44	1	0	0	0	0	1	0	0	0	17611	1203	42	4	726	4	ZCCHC12	23	117959931	Missense_Mutation	SNP	G	TCGA-C5-A7CK-01A-11D-A32I-09	14980064	117959931	37310629	148	6125										
MXRA8	54587	genome.wustl.edu	37	chr1	1289241	1289241	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cgctcacctttgtctaggtcGatgtacttggcaggcagggg	14	10	2	0	rs367562728		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:1289241G>C	ENST00000309212.6	-	9	1320	c.1290C>G	c.(1288-1290)atC>atG	p.I430M	MXRA8_ENST00000445648.2_Missense_Mutation_p.I436M|MXRA8_ENST00000342753.4_Missense_Mutation_p.I329M|MXRA8_ENST00000477278.2_Missense_Mutation_p.I421M	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	430					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCTAGGTCGATGTACTTGG	0.627																																																	0													28	28	28					1																	1289241		2195	4294	6489	SO:0001583	missense	54587			BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"Immunoglobulin superfamily / V-set domain containing"	7542	protein-coding gene	gene with protein product	"limitrin"					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.1290C>G	1.37:g.1289241G>C	ENSP00000307887:p.Ile430Met		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I436M	ENST00000309212.6	37	c.1308	CCDS24.1	1	.	.	.	.	.	.	.	.	.	.	.	10.58	1.389040	0.25118	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.21031	2.04;2.08;2.03	4.03	-8.06	0.01102	.	0.289221	0.30791	U	0.008861	T	0.23210	0.0561	M	0.64997	1.995	0.31166	N	0.703762	P;D;P;P	0.59767	0.621;0.986;0.57;0.621	B;P;P;B	0.52672	0.401;0.706;0.605;0.401	T	0.34153	-0.9840	10	0.87932	D	0	-12.7697	7.8782	0.29605	0.3855:0.1871:0.4275:0.0	.	421;329;436;430	B3KTR6;B4DE34;Q9BRK3-2;Q9BRK3	.;.;.;MXRA8_HUMAN	M	430;421;329;436	ENSP00000307887:I430M;ENSP00000344998:I329M;ENSP00000399229:I436M	ENSP00000307887:I430M	I	-	3	3	MXRA8	1279104	0.000000	0.05858	0.005000	0.12908	0.051000	0.14879	-1.924000	0.01565	-2.286000	0.00670	-1.036000	0.02392	ATC	MXRA8	-	NULL		0.627	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA8	HGNC	protein_coding	OTTHUMT00000008282.2	G	NM_032348		1289241	-1	no_errors	ENST00000445648	ensembl	human	known	70_37	missense	SNP	0.271	C	C	1289241	G	C	1289241	3	2	45	1	0	0	0	0	1	0	0	0	10028	1048	37	1	46	1	MXRA8	1	1289241	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		1289241	247961380	1	6126										
PTPRF	5792	genome.wustl.edu	37	chr1	44070878	44070878	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cagattctgtacaatgggcaGagtgtggaggtggacgggca	17	6	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:44070878G>C	ENST00000359947.4	+	18	3493	c.3153G>C	c.(3151-3153)caG>caC	p.Q1051H	PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1042H|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1051H|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q399H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1042H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1051	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAATGGGCAGAGTGTGGAGG	0.587																																																	0													38	39	39					1																	44070878		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3153G>C	1.37:g.44070878G>C	ENSP00000353030:p.Gln1051His		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1051H	ENST00000359947.4	37	c.3153	CCDS489.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.18|14.18|14.18	2.457118|2.457118|2.457118	0.43634|0.43634|0.43634	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	.|T;T;T;T;T;T|.	.|0.54279|.	.|0.59;0.59;0.59;0.59;0.59;0.58|.	5.31|5.31|5.31	3.32|3.32|3.32	0.38043|0.38043|0.38043	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	.|0.000000|.	.|0.31392|.	.|N|.	.|0.007732|.	T|T|T	0.41488|0.41488|0.41488	0.1161|0.1161|0.1161	L|L|L	0.28192|0.28192|0.28192	0.835|0.835|0.835	0.51233|0.51233|0.51233	D|D|D	0.99991|0.99991|0.99991	.|B;B;B;D;B|.	.|0.67145|.	.|0.001;0.001;0.012;0.996;0.006|.	.|B;B;B;P;B|.	.|0.61201|.	.|0.003;0.003;0.009;0.885;0.013|.	T|T|T	0.16808|0.16808|0.16808	-1.0390|-1.0390|-1.0390	5|10|5	.|0.45353|.	.|T|.	.|0.12|.	.|.|.	7.1201|7.1201|7.1201	0.25440|0.25440|0.25440	0.1495:0.1417:0.7088:0.0|0.1495:0.1417:0.7088:0.0|0.1495:0.1417:0.7088:0.0	.|.|.	.|696;399;617;1042;1051|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	Q|H|T	424;465|1051;1042;1051;1042;399;112|697	.|ENSP00000353030:Q1051H;ENSP00000398822:Q1042H;ENSP00000361491:Q1051H;ENSP00000361490:Q1042H;ENSP00000387885:Q399H;ENSP00000361484:Q112H|.	.|ENSP00000353030:Q1051H|.	E|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43843465|43843465|43843465	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.393000|0.393000|0.393000	0.30537|0.30537|0.30537	3.336000|3.336000|3.336000	0.52113|0.52113|0.52113	1.406000|1.406000|1.406000	0.46857|0.46857|0.46857	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAG|CAG|AGA	PTPRF	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44070878	1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44070878	G	C	44070878	3	2	45	1	0	0	0	0	1	0	0	0	12831	933	33	1	3215	1	PTPRF	1	44070878	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	42781637	44070878	205179743	2	6127										
ECHDC2	55268	genome.wustl.edu	37	chr1	53377455	53377455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggtctgttcatcagaatctcAgtgatccctgtaaggagtca	10	9	5	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:53377455A>G	ENST00000371522.4	-	2	222	c.129T>C	c.(127-129)acT>acC	p.T43T	ECHDC2_ENST00000358358.5_Silent_p.T43T|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	43					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCAGAATCTCAGTGATCCCTG	0.617																																																	0													55	51	52					1																	53377455		2203	4300	6503	SO:0001819	synonymous_variant	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.129T>C	1.37:g.53377455A>G			D3DQ36|Q9NV38	Silent	SNP	pfam_Crotonase_core	p.T43	ENST00000371522.4	37	c.129	CCDS55600.1	1																																																																																			ECHDC2	-	NULL		0.617	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	A	NM_018281		53377455	-1	no_errors	ENST00000371522	ensembl	human	known	70_37	silent	SNP	0.994	G	G	53377455	A	G	53377455	2	3	45	1	0	0	0	0	0	0	0	1	4904	175	7	5		5	ECHDC2	1	53377455	Silent	SNP	A	TCGA-C5-A7CL-01A-11D-A32I-09	9306577	53377455	195873166	3	6128										
USP24	23358	genome.wustl.edu	37	chr1	55538465	55538465	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	caatgttcagttaccttcttCtgtagccactgcacagccca	6	14	3	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:55538465C>G	ENST00000294383.6	-	65	7595	c.7596G>C	c.(7594-7596)caG>caC	p.Q2532H	USP24_ENST00000407756.1_Missense_Mutation_p.Q2372H|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2532					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTACCTTCTTCTGTAGCCACT	0.418																																																	0													52	53	53					1																	55538465		1932	4143	6075	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7596G>C	1.37:g.55538465C>G	ENSP00000294383:p.Gln2532His		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.Q2532H	ENST00000294383.6	37	c.7596	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738083	0.30774	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02552	4.25;4.26	5.01	1.19	0.21007	.	0.000000	0.64402	D	0.000001	T	0.04907	0.0132	L	0.48642	1.525	0.51767	D	0.999934	D	0.61080	0.989	P	0.50708	0.648	T	0.49960	-0.8883	10	0.34782	T	0.22	.	9.6488	0.39883	0.0:0.6544:0.0:0.3456	.	2372	B7WPF4	.	H	2532;2372	ENSP00000294383:Q2532H;ENSP00000385700:Q2372H	ENSP00000294383:Q2532H	Q	-	3	2	USP24	55311053	0.852000	0.29690	0.997000	0.53966	0.922000	0.55478	-0.020000	0.12525	0.133000	0.18654	0.655000	0.94253	CAG	USP24	-	NULL		0.418	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	C			55538465	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55538465	C	G	55538465	3	3	45	1	0	0	0	0	1	0	0	0	17086	912	32	1	282	1	USP24	1	55538465	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2161010	55538465	193712156	4	6129										
LEPR	3953	genome.wustl.edu	37	chr1	66098839	66098839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tattttatctaaacagagaaCggacattctttgaagtctaa	6	6	3	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:66098839C>T	ENST00000371060.3	+	20	2863	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000349533.6_Intron	NM_001003679.3|NM_001198689.1	NP_001003679.1|NP_001185618.1	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.T893M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAACAGAGAACGGACATTCTT	0.299																																																	1	Substitution - Missense(1)	breast(1)											46	46	46					1																	66098839		2203	4298	6501	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000371060.3:c.2678C>T	1.37:g.66098839C>T	ENSP00000360099:p.Thr893Met		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T893M	ENST00000371060.3	37	c.2678	CCDS30740.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033004	0.35893	.	.	ENSG00000116678	ENST00000371060	T	0.54866	0.55	5.9	-3.63	0.04529	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.80722	D	1	B	0.15719	0.014	B	0.15870	0.014	T	0.18745	-1.0327	8	0.46703	T	0.11	.	7.9652	0.30094	0.0:0.2074:0.1345:0.6581	.	893	P48357-2	.	M	893	ENSP00000360099:T893M	ENSP00000360099:T893M	T	+	2	0	LEPR	65871427	0.878000	0.30173	0.893000	0.35052	0.996000	0.88848	-0.270000	0.08584	-0.510000	0.06523	-0.145000	0.13849	ACG	LEPR	-	NULL		0.299	LEPR-002	KNOWN	basic|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025276.1	C	NM_002303		66098839	1	no_errors	ENST00000371060	ensembl	human	known	70_37	missense	SNP	0.834	T	T	66098839	C	T	66098839	3	4	45	1	0	0	0	0	1	0	0	0	8748	536	19	2	2956	2	LEPR	1	66098839	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	10560374	66098839	183151782	5	6130										
INSL5	10022	genome.wustl.edu	37	chr1	67263926	67263926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctggaaggagtttcctgtctCagctgtatggaagagaaaaa	12	6	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:67263926C>G	ENST00000304526.2	-	2	212	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	60						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						TTTCCTGTCTCAGCTGTATGG	0.468																																																	0													57	59	59					1																	67263926		2203	4300	6503	SO:0001583	missense	10022			AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"Endogenous ligands"	6088	protein-coding gene	gene with protein product	"prepro-INSL5"	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.178G>C	1.37:g.67263926C>G	ENSP00000302724:p.Glu60Gln		Q3MIY4|Q5VYD8	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like	p.E60Q	ENST00000304526.2	37	c.178	CCDS634.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253445	0.59212	.	.	ENSG00000172410	ENST00000304526	D	0.89415	-2.51	4.38	4.38	0.52667	Insulin-like (3);	0.327755	0.22309	N	0.061755	D	0.90150	0.6922	M	0.62723	1.935	0.30293	N	0.790189	D	0.69078	0.997	D	0.68483	0.958	D	0.85830	0.1391	10	0.48119	T	0.1	-3.27	12.3389	0.55083	0.0:1.0:0.0:0.0	.	60	Q9Y5Q6	INSL5_HUMAN	Q	60	ENSP00000302724:E60Q	ENSP00000302724:E60Q	E	-	1	0	INSL5	67036514	0.018000	0.18449	0.681000	0.30009	0.072000	0.16883	0.888000	0.28268	2.263000	0.75096	0.563000	0.77884	GAG	INSL5	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.468	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL5	HGNC	protein_coding	OTTHUMT00000025403.1	C	NM_005478		67263926	-1	no_errors	ENST00000304526	ensembl	human	known	70_37	missense	SNP	0.723	G	G	67263926	C	G	67263926	3	3	45	1	0	0	0	0	1	0	0	0	7789	835	29	1	233	1	INSL5	1	67263926	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	1165087	67263926	181986695	6	6131										
FAM73A	374986	genome.wustl.edu	37	chr1	78245408	78245408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gggcaggccagctgtacctgGcctggagctccaggtacagg	16	12	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:78245408G>T	ENST00000370791.3	+	1	100	c.68G>T	c.(67-69)gGc>gTc	p.G23V	RNA5SP21_ENST00000410917.1_RNA|FAM73A_ENST00000443751.2_Missense_Mutation_p.G23V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	23						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGTACCTGGCCTGGAGCTC	0.692																																																	0													5	5	5					1																	78245408		2143	4182	6325	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.68G>T	1.37:g.78245408G>T	ENSP00000359827:p.Gly23Val		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.G23V	ENST00000370791.3	37	c.68	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897885	0.33535	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.39056	1.77;1.1	4.61	0.387	0.16259	.	0.980175	0.08281	N	0.969998	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.21917	0.037;0.017;0.017	T	0.39563	-0.9608	10	0.87932	D	0	8.6355	7.5628	0.27862	0.0968:0.5115:0.3917:0.0	.	23;23;23	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	23	ENSP00000359827:G23V;ENSP00000393675:G23V	ENSP00000359827:G23V	G	+	2	0	FAM73A	78017996	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.449000	0.21744	0.201000	0.20466	-0.172000	0.13284	GGC	FAM73A	-	NULL		0.692	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	G	NM_198549		78245408	1	no_errors	ENST00000370791	ensembl	human	known	70_37	missense	SNP	0.000	T	T	78245408	G	T	78245408	3	4	45	1	0	0	0	0	1	0	0	0	5635	1203	42	4	70	4	FAM73A	1	78245408	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	10981482	78245408	171005213	7	6132										
ELTD1	64123	genome.wustl.edu	37	chr1	79358831	79358831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtttcaaccctgcagtgtgaCgaaaaactttgtatatgatg	9	7	1	2	rs200701720		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:79358831C>T	ENST00000370742.3	-	13	1856	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	598					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAGTGTGACGAAAAACTTT	0.303																																																	0								C	HIS/ARG	0,3640		0,0,1820	70	66	67		1793	5.6	1	1	dbSNP_134	67	1,8135		0,1,4067	no	missense	ELTD1	NM_022159.3	29	0,1,5887	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	598/691	79358831	1,11775	1820	4068	5888	SO:0001583	missense	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1793G>A	1.37:g.79358831C>T	ENSP00000359778:p.Arg598His		B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R598H	ENST00000370742.3	37	c.1793	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943456	0.73672	0.0	1.23E-4	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.46063	0.88;0.88	5.55	5.55	0.83447	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.65320	2	0.80722	D	1	D	0.58970	0.984	D	0.63192	0.912	T	0.45483	-0.9258	9	.	.	.	.	13.7646	0.62988	0.0:0.9268:0.0:0.0732	.	598	Q9HBW9	ELTD1_HUMAN	H	598;56	ENSP00000359778:R598H;ENSP00000383813:R56H	.	R	-	2	0	ELTD1	79131419	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.819000	0.55686	2.611000	0.88343	0.655000	0.94253	CGT	ELTD1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.303	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	C	NM_022159		79358831	-1	no_errors	ENST00000370742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79358831	C	T	79358831	3	4	45	1	0	0	0	0	1	0	0	0	5096	536	19	2	291	2	ELTD1	1	79358831	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	1113423	79358831	169891790	8	6133										
TMEM167B	56900	genome.wustl.edu	37	chr1	109635591	109635591	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttcaagaaagtacctcgtctCaaaacctggctgctatcaga	7	11	3	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:109635591C>G	ENST00000338272.8	+	2	1160	c.90C>G	c.(88-90)ctC>ctG	p.L30L	TMEM167B_ENST00000473828.1_3'UTR|RP5-1065J22.8_ENST00000608574.1_RNA	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	30						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TACCTCGTCTCAAAACCTGGC	0.458																																																	0													250	261	257					1																	109635591		2203	4298	6501	SO:0001819	synonymous_variant	56900				CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 119"	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.90C>G	1.37:g.109635591C>G			B2RUU9	Silent	SNP	pfam_DUF1242	p.L30	ENST00000338272.8	37	c.90	CCDS30789.1	1																																																																																			TMEM167B	-	pfam_DUF1242		0.458	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM167B	HGNC	protein_coding	OTTHUMT00000100611.2	C	NM_020141		109635591	1	no_errors	ENST00000338272	ensembl	human	known	70_37	silent	SNP	0.998	G	G	109635591	C	G	109635591	2	3	45	1	0	0	0	0	0	0	0	1	16112	813	29	1		1	TMEM167B	1	109635591	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	30276760	109635591	139615030	9	6134										
CD101	9398	genome.wustl.edu	37	chr1	117559730	117559730	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agcaagaagtgtggtcatgtCtaccaagaacaagcagcaag	11	8	2	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:117559730C>T	ENST00000256652.4	+	5	1305	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	CD101_ENST00000369470.1_Missense_Mutation_p.S416F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	416	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S416F(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGTCATGTCTACCAAGAAC	0.413																																																	1	Substitution - Missense(1)	urinary_tract(1)											92	78	83					1																	117559730		2203	4300	6503	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1247C>T	1.37:g.117559730C>T	ENSP00000256652:p.Ser416Phe		Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S416F	ENST00000256652.4	37	c.1247	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	2.339	-0.351482	0.05173	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.22336	1.96;1.96	4.83	1.84	0.25277	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.772602	0.11378	N	0.570109	T	0.05227	0.0139	L	0.41027	1.25	0.19775	N	0.99996	B	0.10296	0.003	B	0.14578	0.011	T	0.40001	-0.9586	10	0.34782	T	0.22	-1.3938	4.2248	0.10575	0.1815:0.6269:0.0:0.1916	.	416	Q93033	IGSF2_HUMAN	F	416	ENSP00000256652:S416F;ENSP00000358482:S416F	ENSP00000256652:S416F	S	+	2	0	CD101	117361253	0.602000	0.26916	0.005000	0.12908	0.154000	0.21943	0.882000	0.28186	0.306000	0.22856	0.655000	0.94253	TCT	CD101	-	pfam_Ig_V-set,pfam_Ig_I-set,pfscan_Ig-like		0.413	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	C	NM_004258		117559730	1	no_errors	ENST00000256652	ensembl	human	known	70_37	missense	SNP	0.146	T	T	117559730	C	T	117559730	3	4	45	1	0	0	0	0	1	0	0	0	2967	913	32	1	1265	1	CD101	1	117559730	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	7924139	117559730	131690891	10	6135										
TCHH	7062	genome.wustl.edu	37	chr1	152083004	152083004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctgttccttcctcagctgctCttgtagggctggcttggcgt	12	12	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:152083004C>G	ENST00000368804.1	-	2	2688	c.2689G>C	c.(2689-2691)Gag>Cag	p.E897Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	897					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGCTGCTCTTGTAGGGCT	0.582																																																	0													129	142	137					1																	152083004		2135	4251	6386	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2689G>C	1.37:g.152083004C>G	ENSP00000357794:p.Glu897Gln		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E897Q	ENST00000368804.1	37	c.2689	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	7.730	0.698942	0.15106	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	3.8	1.6	0.23607	.	.	.	.	.	T	0.01353	0.0044	L	0.32530	0.975	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.47142	-0.9140	9	0.13853	T	0.58	-3.4882	7.4966	0.27492	0.1868:0.631:0.1821:0.0	.	897	Q07283	TRHY_HUMAN	Q	897	ENSP00000357794:E897Q	ENSP00000357794:E897Q	E	-	1	0	TCHH	150349628	0.000000	0.05858	0.100000	0.21137	0.009000	0.06853	-0.680000	0.05197	0.675000	0.31264	0.450000	0.29827	GAG	TCHH	-	NULL		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152083004	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.144	G	G	152083004	C	G	152083004	3	3	45	1	0	0	0	0	1	0	0	0	15730	922	32	1	3146	1	TCHH	1	152083004	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	34523274	152083004	97167617	11	6136										
HAPLN2	60484	genome.wustl.edu	37	chr1	156594401	156594401	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtctcccgccagcttggaccGagggtctggactggtgtaac	14	12	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:156594401G>C	ENST00000255039.1	+	6	972	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	189	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTTGGACCGAGGGTCTGGA	0.726																																																	0													14	16	16					1																	156594401		2199	4293	6492	SO:0001583	missense	60484			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.565G>C	1.37:g.156594401G>C	ENSP00000255039:p.Glu189Gln		Q5T3J0	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.E189Q	ENST00000255039.1	37	c.565	CCDS1148.1	1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676786	0.47886	.	.	ENSG00000132702	ENST00000255039;ENST00000544775	T	0.10099	2.91	4.19	3.26	0.37387	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.054305	0.64402	D	0.000001	T	0.13713	0.0332	L	0.48362	1.52	0.44123	D	0.996906	D	0.69078	0.997	D	0.75020	0.985	T	0.02275	-1.1184	10	0.33940	T	0.23	-20.9425	12.9589	0.58447	0.0:0.1646:0.8354:0.0	.	189	Q9GZV7	HPLN2_HUMAN	Q	189;162	ENSP00000255039:E189Q	ENSP00000255039:E189Q	E	+	1	0	HAPLN2	154861025	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	3.932000	0.56537	1.083000	0.41159	-0.302000	0.09304	GAG	HAPLN2	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.726	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN2	HGNC	protein_coding	OTTHUMT00000081039.1	G	NM_021817		156594401	1	no_errors	ENST00000255039	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156594401	G	C	156594401	3	2	45	1	0	0	0	0	1	0	0	0	6975	1059	37	1	579	1	HAPLN2	1	156594401	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	4511397	156594401	92656220	12	6137										
FCRL5	83416	genome.wustl.edu	37	chr1	157490329	157490329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aaaagggccacttctgttcgCggtcagccctgagggggaga	15	10	2	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:157490329C>T	ENST00000361835.3	-	12	2681	c.2524G>A	c.(2524-2526)Gcg>Acg	p.A842T	FCRL5_ENST00000356953.4_Missense_Mutation_p.A842T|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	842					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTTCTGTTCGCGGTCAGCCCT	0.662																																																	0													15	16	15					1																	157490329		2201	4294	6495	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2524G>A	1.37:g.157490329C>T	ENSP00000354691:p.Ala842Thr		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A842T	ENST00000361835.3	37	c.2524	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971888	0.34754	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.46063	0.88;0.89	4.85	1.87	0.25490	.	.	.	.	.	T	0.03739	0.0106	N	0.03608	-0.345	0.09310	N	1	B;P	0.41008	0.111;0.735	B;B	0.23018	0.005;0.043	T	0.22068	-1.0227	9	0.12103	T	0.63	.	6.6477	0.22945	0.0:0.6839:0.0:0.3161	.	842;842	A6NJE8;Q96RD9	.;FCRL5_HUMAN	T	842	ENSP00000354691:A842T;ENSP00000349434:A842T	ENSP00000349434:A842T	A	-	1	0	FCRL5	155756953	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.423000	0.21313	0.627000	0.30340	-0.262000	0.10625	GCG	FCRL5	-	NULL		0.662	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	C	NM_031281		157490329	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	missense	SNP	0.000	T	T	157490329	C	T	157490329	3	4	45	1	0	0	0	0	1	0	0	0	5816	768	27	2	433	2	FCRL5	1	157490329	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	895928	157490329	91760292	13	6138										
CADM3	57863	genome.wustl.edu	37	chr1	159162383	159162383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cccagcccttcgagataatcGaattcagctggttacctcta	7	13	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:159162383G>A	ENST00000368125.4	+	3	402	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CADM3_ENST00000368124.4_Missense_Mutation_p.R116Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	82	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGAGATAATCGAATTCAGCTG	0.512																																																	0													121	107	112					1																	159162383		2203	4300	6503	SO:0001583	missense	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.245G>A	1.37:g.159162383G>A	ENSP00000357107:p.Arg82Gln		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.R116Q	ENST00000368125.4	37	c.347	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.299530	0.95574	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.87729	-2.29;-2.29;-2.29	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.94324	0.8176	M	0.91038	3.17	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.95003	0.8145	10	0.87932	D	0	.	16.3396	0.83078	0.0:0.0:1.0:0.0	.	82;82;116	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	Q	116;82;82	ENSP00000357106:R116Q;ENSP00000357107:R82Q;ENSP00000387802:R82Q	ENSP00000357106:R116Q	R	+	2	0	CADM3	157429007	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.043000	0.93799	2.708000	0.92522	0.650000	0.86243	CGA	CADM3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	G	NM_021189		159162383	1	no_errors	ENST00000368124	ensembl	human	known	70_37	missense	SNP	1.000	A	A	159162383	G	A	159162383	3	1	45	1	0	0	0	0	1	0	0	0	2573	1058	37	1	361	1	CADM3	1	159162383	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	1672054	159162383	90088238	14	6139										
PRRX1	5396	genome.wustl.edu	37	chr1	170688882	170688882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tccagatgaccagctgaactCagaagaaaaaaagaagagaa	9	7	1	7			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:170688882C>T	ENST00000239461.6	+	2	570	c.257C>T	c.(256-258)tCa>tTa	p.S86L	PRRX1_ENST00000367760.3_Missense_Mutation_p.S86L|PRRX1_ENST00000497230.2_Missense_Mutation_p.S86L	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	86					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGCTGAACTCAGAAGAAAAA	0.423																																																	0													49	48	48					1																	170688882		2203	4300	6503	SO:0001583	missense	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.257C>T	1.37:g.170688882C>T	ENSP00000239461:p.Ser86Leu		B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.S86L	ENST00000239461.6	37	c.257	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144495	0.57044	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.92299	-2.8;-2.98;-3.01;-2.96	5.11	5.11	0.69529	Homeodomain-related (1);Homeodomain-like (1);	0.160991	0.45361	D	0.000375	T	0.80513	0.4637	N	0.14661	0.345	0.80722	D	1	B;B	0.20459	0.043;0.045	B;B	0.22601	0.011;0.04	T	0.77330	-0.2628	10	0.42905	T	0.14	.	17.109	0.86670	0.0:1.0:0.0:0.0	.	86;86	P54821;P54821-2	PRRX1_HUMAN;.	L	39;86;86;86	ENSP00000451943:S39L;ENSP00000356734:S86L;ENSP00000239461:S86L;ENSP00000450762:S86L	ENSP00000239461:S86L	S	+	2	0	PRRX1	168955506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.372000	0.79612	2.352000	0.79861	0.655000	0.94253	TCA	PRRX1	-	superfamily_Homeodomain-like		0.423	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	C	NM_006902		170688882	1	no_errors	ENST00000239461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170688882	C	T	170688882	3	4	45	1	0	0	0	0	1	0	0	0	12639	838	29	1	263	1	PRRX1	1	170688882	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	11526499	170688882	78561739	15	6140										
TPR	7175	genome.wustl.edu	37	chr1	186296624	186296624	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	atcattttcatcatcatcctCttcttcatcatcactgtcaa	1	13	10	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:186296624C>G	ENST00000367478.4	-	40	6153	c.5857G>C	c.(5857-5859)Gag>Cag	p.E1953Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1953				Missing (in Ref. 2; CAA47021). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		tcatcatcctcttcttcatca	0.388			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													125	123	123					1																	186296624		2036	4191	6227	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5857G>C	1.37:g.186296624C>G	ENSP00000356448:p.Glu1953Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1953Q	ENST00000367478.4	37	c.5857	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547069	0.45383	.	.	ENSG00000047410	ENST00000367478	T	0.26067	1.76	5.26	5.26	0.73747	.	0.485095	0.24472	N	0.038229	T	0.19846	0.0477	N	0.22421	0.69	0.42150	D	0.991557	B	0.20780	0.048	B	0.22386	0.039	T	0.05321	-1.0892	10	0.23891	T	0.37	.	16.6673	0.85256	0.0:1.0:0.0:0.0	.	1953	P12270	TPR_HUMAN	Q	1953	ENSP00000356448:E1953Q	ENSP00000356448:E1953Q	E	-	1	0	TPR	184563247	0.989000	0.36119	0.995000	0.50966	0.998000	0.95712	4.672000	0.61597	2.451000	0.82905	0.650000	0.86243	GAG	TPR	-	NULL		0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186296624	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	0.995	G	G	186296624	C	G	186296624	3	3	45	1	0	0	0	0	1	0	0	0	16447	922	32	1	1282	1	TPR	1	186296624	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	15607742	186296624	62953997	16	6141										
CYB5R1	51706	genome.wustl.edu	37	chr1	202935026	202935026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gccccttaccttgatgacaaGatccacatagccttgatcct	6	14	0	4			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:202935026G>C	ENST00000367249.4	-	4	408	c.334C>G	c.(334-336)Ctt>Gtt	p.L112V	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TTGATGACAAGATCCACATAG	0.493																																																	0													141	118	126					1																	202935026		2203	4300	6503	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.334C>G	1.37:g.202935026G>C	ENSP00000356218:p.Leu112Val		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.L112V	ENST00000367249.4	37	c.334	CCDS1431.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538005|4.538005	0.85917|0.85917	.|.	.|.	ENSG00000159348|ENSG00000159348	ENST00000446185|ENST00000367249	.|D	.|0.88124	.|-2.34	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.94195|0.94195	0.8137|0.8137	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D	.|0.61080	.|0.989	.|D	.|0.64042	.|0.921	D|D	0.94658|0.94658	0.7845|0.7845	5|10	.|0.87932	.|D	.|0	-3.1844|-3.1844	17.8272|17.8272	0.88669|0.88669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|112	.|Q9UHQ9	.|NB5R1_HUMAN	M|V	43|112	.|ENSP00000356218:L112V	.|ENSP00000356218:L112V	I|L	-|-	3|1	3|0	CYB5R1|CYB5R1	201201649|201201649	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	5.213000|5.213000	0.65230|0.65230	2.818000|2.818000	0.97014|0.97014	0.591000|0.591000	0.81541|0.81541	ATC|CTT	CYB5R1	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.493	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	G	NM_016243		202935026	-1	no_errors	ENST00000367249	ensembl	human	known	70_37	missense	SNP	1.000	C	C	202935026	G	C	202935026	3	2	45	1	0	0	0	0	1	0	0	0	4131	942	33	1	607	1	CYB5R1	1	202935026	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	16638402	202935026	46315595	17	6142										
IL19	29949	genome.wustl.edu	37	chr1	207015960	207015960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gaatcatgaagtaatgttctCagcttgatgacaaggaacct	9	7	2	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:207015960C>T	ENST00000270218.6	+	7	1466	c.527C>T	c.(526-528)tCa>tTa	p.S176L	IL19_ENST00000340758.2_Missense_Mutation_p.S214L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	176					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GTAATGTTCTCAGCTTGATGA	0.502																																																	0													59	58	58					1																	207015960		2202	4293	6495	SO:0001583	missense	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.527C>T	1.37:g.207015960C>T	ENSP00000270218:p.Ser176Leu		B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,prints_Interleukin-19,prints_Interleukin-24	p.S214L	ENST00000270218.6	37	c.641	CCDS1469.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161766	0.38217	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.36878	1.23;1.43	5.4	3.49	0.39957	Four-helical cytokine-like, core (1);	0.975911	0.08409	N	0.950301	T	0.25606	0.0623	N	0.22421	0.69	0.09310	N	1	B;B	0.20780	0.048;0.048	B;B	0.14023	0.01;0.007	T	0.23154	-1.0196	10	0.54805	T	0.06	.	7.1446	0.25575	0.1686:0.7437:0.0:0.0877	.	176;214	Q9UHD0;Q5VUT3	IL19_HUMAN;.	L	214;176	ENSP00000343000:S214L;ENSP00000270218:S176L	ENSP00000270218:S176L	S	+	2	0	IL19	205082583	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.527000	0.35975	0.741000	0.32674	0.655000	0.94253	TCA	IL19	-	superfamily_4_helix_cytokine-like_core		0.502	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088567.2	C	NM_153758		207015960	1	no_errors	ENST00000340758	ensembl	human	known	70_37	missense	SNP	0.001	T	T	207015960	C	T	207015960	3	4	45	1	0	0	0	0	1	0	0	0	7669	838	29	1	663	1	IL19	1	207015960	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	4080934	207015960	42234661	18	6143										
BIRC6	57448	genome.wustl.edu	37	chr2	32640932	32640932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tccccaggacacaattacctCgctcattttgcttccacccg	5	17	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:32640932C>T	ENST00000421745.2	+	10	2707	c.2573C>T	c.(2572-2574)tCg>tTg	p.S858L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	858					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAATTACCTCGCTCATTTTG	0.388																																					Pancreas(94;175 1509 16028 18060 45422)												0													67	60	62					2																	32640932		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2573C>T	2.37:g.32640932C>T	ENSP00000393596:p.Ser858Leu		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S858L	ENST00000421745.2	37	c.2573	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212028	0.79240	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.77532	0.4144	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.70114	-0.4961	10	0.09843	T	0.71	.	19.7228	0.96150	0.0:1.0:0.0:0.0	.	858	Q9NR09	BIRC6_HUMAN	L	858	ENSP00000393596:S858L	ENSP00000393596:S858L	S	+	2	0	BIRC6	32494436	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.578000	0.82498	2.667000	0.90743	0.655000	0.94253	TCG	BIRC6	-	NULL		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32640932	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32640932	C	T	32640932	3	4	45	1	0	0	0	0	1	0	0	0	1439	893	31	1	2611	1	BIRC6	2	32640932	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		32640932	210558441	19	6144										
PNO1	56902	genome.wustl.edu	37	chr2	68388847	68388847	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	accaaggatgttagtgctctGacaaaagcagctgattttgt	10	7	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:68388847G>C	ENST00000263657.2	+	3	481	c.390G>C	c.(388-390)ctG>ctC	p.L130L	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	130						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTAGTGCTCTGACAAAAGCAG	0.338																																					NSCLC(83;642 1410 13044 32832 40058)												0													104	109	107					2																	68388847		2203	4300	6503	SO:0001819	synonymous_variant	56902			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.390G>C	2.37:g.68388847G>C			A8K6Q0|Q53G13|Q8WVB8	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.L130	ENST00000263657.2	37	c.390	CCDS1885.1	2																																																																																			PNO1	-	NULL		0.338	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNO1	HGNC	protein_coding	OTTHUMT00000251756.1	G	NM_020143		68388847	1	no_errors	ENST00000263657	ensembl	human	known	70_37	silent	SNP	1.000	C	C	68388847	G	C	68388847	2	2	45	1	0	0	0	0	0	0	0	1	12185	1277	45	1		1	PNO1	2	68388847	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	35747915	68388847	174810526	20	6145										
C2orf78	388960	genome.wustl.edu	37	chr2	74044086	74044086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	attgaaagggaaagagatatGgaaattgctgaatactatgg	12	2	0	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:74044086G>T	ENST00000409561.1	+	3	2857	c.2736G>T	c.(2734-2736)atG>atT	p.M912I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	912										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAAGAGATATGGAAATTGCTG	0.393																																																	0													29	32	31					2																	74044086		1866	4110	5976	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2736G>T	2.37:g.74044086G>T	ENSP00000387124:p.Met912Ile			Missense_Mutation	SNP	NULL	p.M912I	ENST00000409561.1	37	c.2736	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693931	0.30052	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.50813	0.73	5.34	1.42	0.22433	.	0.102424	0.42172	D	0.000747	T	0.39886	0.1095	M	0.77103	2.36	0.09310	N	1	P	0.42296	0.775	B	0.36464	0.225	T	0.44907	-0.9297	10	0.72032	D	0.01	-9.0743	2.5604	0.04771	0.165:0.1464:0.5372:0.1513	.	912	A6NCI8	CB078_HUMAN	I	912;882	ENSP00000387124:M912I	ENSP00000340692:M882I	M	+	3	0	C2orf78	73897594	0.657000	0.27393	0.000000	0.03702	0.001000	0.01503	2.832000	0.48152	0.052000	0.16007	-0.321000	0.08615	ATG	C2orf78	-	NULL		0.393	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	G	NM_001080474		74044086	1	no_errors	ENST00000409561	ensembl	human	novel	70_37	missense	SNP	0.002	T	T	74044086	G	T	74044086	3	4	45	1	0	0	0	0	1	0	0	0	2200	1348	47	4	2746	4	C2orf78	2	74044086	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	5655239	74044086	169155287	21	6146										
TMEM131	23505	genome.wustl.edu	37	chr2	98388811	98388811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	taatatttaagagttttttgCttttttgcttcacttgagac	6	5	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:98388811C>T	ENST00000186436.5	-	33	4625	c.4397G>A	c.(4396-4398)aGc>aAc	p.S1466N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1466	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGTTTTTTGCTTTTTTGCTT	0.338																																																	0													190	171	177					2																	98388811		1802	4064	5866	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4397G>A	2.37:g.98388811C>T	ENSP00000186436:p.Ser1466Asn			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S1466N	ENST00000186436.5	37	c.4397	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121044	0.37436	.	.	ENSG00000075568	ENST00000186436	T	0.21543	2.0	5.79	4.92	0.64577	.	0.081494	0.85682	D	0.000000	T	0.22205	0.0535	L	0.56769	1.78	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.02610	-1.1134	10	0.37606	T	0.19	-11.0245	11.7693	0.51949	0.0:0.8092:0.1235:0.0673	.	1466	Q92545	TM131_HUMAN	N	1466	ENSP00000186436:S1466N	ENSP00000186436:S1466N	S	-	2	0	TMEM131	97755243	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.257000	0.32932	1.471000	0.48121	-0.251000	0.11542	AGC	TMEM131	-	NULL		0.338	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98388811	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98388811	C	T	98388811	3	4	45	1	0	0	0	0	1	0	0	0	16074	797	28	4	1290	4	TMEM131	2	98388811	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	24344725	98388811	144810562	22	6147										
SLC9A2	6549	genome.wustl.edu	37	chr2	103324666	103324666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cgcttcttgccagaacagttCtccaagaaatccccccagtc	6	16	2	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:103324666C>G	ENST00000233969.2	+	12	2299	c.2157C>G	c.(2155-2157)ttC>ttG	p.F719L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	719					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGAACAGTTCTCCAAGAAAT	0.547																																																	0													89	99	96					2																	103324666		2203	4300	6503	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2157C>G	2.37:g.103324666C>G	ENSP00000233969:p.Phe719Leu		B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F719L	ENST00000233969.2	37	c.2157	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018475	0.19355	.	.	ENSG00000115616	ENST00000233969	T	0.54279	0.58	5.48	2.69	0.31865	.	1.299920	0.04495	N	0.380168	T	0.32734	0.0839	N	0.14661	0.345	0.25419	N	0.988286	B	0.14012	0.009	B	0.09377	0.004	T	0.23013	-1.0200	10	0.11485	T	0.65	.	5.0175	0.14345	0.159:0.5922:0.0:0.2488	.	719	Q9UBY0	SL9A2_HUMAN	L	719	ENSP00000233969:F719L	ENSP00000233969:F719L	F	+	3	2	SLC9A2	102691098	0.959000	0.32827	1.000000	0.80357	0.941000	0.58515	0.098000	0.15189	0.795000	0.33922	0.655000	0.94253	TTC	SLC9A2	-	prints_Na/H_exchanger_2		0.547	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103324666	1	no_errors	ENST00000233969	ensembl	human	known	70_37	missense	SNP	0.996	G	G	103324666	C	G	103324666	3	3	45	1	0	0	0	0	1	0	0	0	14742	912	32	1	2203	1	SLC9A2	2	103324666	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	4935855	103324666	139874707	23	6148										
BUB1	699	genome.wustl.edu	37	chr2	111408297	111408297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgcagcaggctggctcagacGaagtaaggatgctgaataca	13	8	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:111408297G>A	ENST00000302759.6	-	18	2147	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	BUB1_ENST00000409311.1_Missense_Mutation_p.R677C|BUB1_ENST00000535254.1_Missense_Mutation_p.R657C	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	677					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGCTCAGACGAAGTAAGGAT	0.502																																																	0													84	74	77					2																	111408297		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2029C>T	2.37:g.111408297G>A	ENSP00000302530:p.Arg677Cys		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.R677C	ENST00000302759.6	37	c.2029	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024405	0.19433	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30981	2.24;1.51;2.51	4.95	0.987	0.19790	.	2.232510	0.01293	N	0.010084	T	0.12603	0.0306	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.19128	-1.0315	10	0.52906	T	0.07	4.2176	1.2119	0.01906	0.2106:0.1995:0.4271:0.1627	.	657;677;677	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	C	657;677;677;677	ENSP00000441013:R657C;ENSP00000386701:R677C;ENSP00000302530:R677C	ENSP00000302530:R677C	R	-	1	0	BUB1	111124769	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.102000	0.10956	-0.001000	0.14495	0.650000	0.86243	CGT	BUB1	-	NULL		0.502	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	G	NM_004336		111408297	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	0.000	A	A	111408297	G	A	111408297	3	1	45	1	0	0	0	0	1	0	0	0	1573	1058	37	1	1260	1	BUB1	2	111408297	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	8083631	111408297	131791076	24	6149										
LRP1B	53353	genome.wustl.edu	37	chr2	141806683	141806683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aagcacgagggtttaccagaTtttctatggggatcatgtat	11	6	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:141806683T>C	ENST00000389484.3	-	11	2632	c.1661A>G	c.(1660-1662)aAt>aGt	p.N554S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	554					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTACCAGATTTTCTATGGG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													191	186	188					2																	141806683		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1661A>G	2.37:g.141806683T>C	ENSP00000374135:p.Asn554Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.N554S	ENST00000389484.3	37	c.1661	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129400	0.37630	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91011	-2.77	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.065397	0.64402	U	0.000012	D	0.87533	0.6201	L	0.58428	1.81	0.39863	D	0.973401	P	0.38195	0.622	B	0.32762	0.152	D	0.87048	0.2145	10	0.29301	T	0.29	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	554	Q9NZR2	LRP1B_HUMAN	S	554;492	ENSP00000374135:N554S	ENSP00000374135:N554S	N	-	2	0	LRP1B	141523153	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	6.138000	0.71717	2.074000	0.62210	0.460000	0.39030	AAT	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	T	NM_018557		141806683	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141806683	T	C	141806683	3	2	45	1	0	0	0	0	1	0	0	0	8978	1493	52	5	12462	5	LRP1B	2	141806683	Missense_Mutation	SNP	T	TCGA-C5-A7CL-01A-11D-A32I-09	30398386	141806683	101392690	25	6150										
STAM2	10254	genome.wustl.edu	37	chr2	153004816	153004817	+	Splice_Site	INS	-	-	A													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tttaggcaatctttcgctctINSaaaaaaaaaaagagagagag							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:153004816_153004817insA	ENST00000263904.4	-	3	475		c.e3-2		STAM2_ENST00000465460.1_Splice_Site	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTTTCGCTCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	10254			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.126-2->T	2.37:g.153004827_153004827dupA			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Splice_Site	INS	-	e3-2	ENST00000263904.4	37	c.126-3_126-2	CCDS2196.1	2																																																																																			STAM2	-	-		0.297	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	-	NM_005843	Intron	153004817	-1	no_errors	ENST00000263904	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.002	A	A	153004817	-	A	153004816	8	5	45	1	0	1	1	0	0	0	1	0	15279	1536	53	0	1501	0	STAM2	2	153004816	Splice_Site	INS	-	TCGA-C5-A7CL-01A-11D-A32I-09	11198133	153004816	90194557	26	6151										
FASTKD1	79675	genome.wustl.edu	37	chr2	170428398	170428398	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	accaaacatttgctcctcatCtgtacacttattcatctgaa	3	12	4	1	rs150915965	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:170428398C>G	ENST00000453153.2	-	2	488	c.142G>C	c.(142-144)Gat>Cat	p.D48H	FASTKD1_ENST00000453929.2_Missense_Mutation_p.D48H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	48					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGCTCCTCATCTGTACACTTA	0.373																																																	0													99	92	94					2																	170428398		2203	4300	6503	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.142G>C	2.37:g.170428398C>G	ENSP00000400513:p.Asp48His		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.D48H	ENST00000453153.2	37	c.142	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731521	0.30684	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.19105	2.17;2.17	5.07	0.536	0.17138	.	0.653862	0.16583	N	0.208087	T	0.16471	0.0396	L	0.59912	1.85	0.22620	N	0.998921	B;B;B	0.28636	0.139;0.218;0.139	B;B;B	0.24701	0.025;0.055;0.025	T	0.16100	-1.0414	10	0.31617	T	0.26	-16.2255	5.1414	0.14961	0.0:0.3005:0.1722:0.5272	.	48;48;48	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	H	48	ENSP00000400513:D48H;ENSP00000403229:D48H	ENSP00000396769:D48H	D	-	1	0	FASTKD1	170136644	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.357000	0.20199	0.236000	0.21180	0.591000	0.81541	GAT	FASTKD1	-	NULL		0.373	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	C	NM_024622		170428398	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	missense	SNP	0.990	G	G	170428398	C	G	170428398	3	3	45	1	0	0	0	0	1	0	0	0	5703	913	32	1	2457	1	FASTKD1	2	170428398	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	17423582	170428398	72770975	27	6152										
COL3A1	1281	genome.wustl.edu	37	chr2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gagctggtccccctggtcccGaaggaggaaaggtaactcca	13	12	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGGTCCCGAAGGAGGAAA	0.483																																																	0													40	41	40					2																	189864098		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2110G>A	2.37:g.189864098G>A	ENSP00000304408:p.Glu704Lys		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E704K	ENST00000304636.3	37	c.2110	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925057	0.73213	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93019	-2.59;-3.15	4.96	4.96	0.65561	.	0.153604	0.29814	N	0.011139	T	0.81884	0.4917	N	0.04768	-0.165	0.58432	D	0.999994	P	0.41710	0.76	B	0.24974	0.057	T	0.83136	-0.0111	10	0.16420	T	0.52	.	18.6093	0.91277	0.0:0.0:1.0:0.0	.	704	P02461	CO3A1_HUMAN	K	704	ENSP00000304408:E704K;ENSP00000315243:E704K	ENSP00000304408:E704K	E	+	1	0	COL3A1	189572343	1.000000	0.71417	0.743000	0.31040	0.938000	0.57974	9.414000	0.97362	2.472000	0.83506	0.650000	0.86243	GAA	COL3A1	-	NULL		0.483	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	G	NM_000090		189864098	1	no_errors	ENST00000304636	ensembl	human	known	70_37	missense	SNP	0.999	A	A	189864098	G	A	189864098	3	1	45	1	0	0	0	0	1	0	0	0	3693	1059	37	1	2228	1	COL3A1	2	189864098	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	19435700	189864098	53335275	28	6153										
ABCA12	26154	genome.wustl.edu	37	chr2	215875193	215875193	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	taaagggagaagcaaaatggTgctggaaggaaaaagtgaaa	14	2	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:215875193T>C	ENST00000272895.7	-	18	2553	c.2334A>G	c.(2332-2334)acA>acG	p.T778T	ABCA12_ENST00000389661.4_Splice_Site_p.T460T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	778					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAAAATGGTGCTGGAAGGA	0.358																																					Ovarian(66;664 1488 5121 34295)												0													64	63	64					2																	215875193		2203	4300	6503	SO:0001630	splice_region_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2333-1A>G	2.37:g.215875193T>C			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T778	ENST00000272895.7	37	c.2334	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	T	NM_173076	Silent	215875193	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	0.997	C	C	215875193	T	C	215875193	5	2	45	1	0	0	0	0	0	0	1	0	30	1710	59	5	5597	5	ABCA12	2	215875193	Splice_Site	SNP	T	TCGA-C5-A7CL-01A-11D-A32I-09	26011095	215875193	27324180	29	6154										
ARPC2	10109	genome.wustl.edu	37	chr2	219082250	219082250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gagacgctcgcgctcaagttCgagaacgcggccgccgggtg	16	13	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:219082250C>G	ENST00000295685.10	+	1	318	c.57C>G	c.(55-57)ttC>ttG	p.F19L	ARPC2_ENST00000315717.5_Missense_Mutation_p.F19L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	19					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CGCTCAAGTTCGAGAAcgcgg	0.677																																																	0																																										SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.57C>G	2.37:g.219082250C>G	ENSP00000295685:p.Phe19Leu		Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.F19L	ENST00000295685.10	37	c.57	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772036	0.49680	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.21	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.56769	1.78	0.58432	D	0.999996	B	0.21606	0.058	B	0.14023	0.01	T	0.48031	-0.9070	9	0.31617	T	0.26	.	9.1526	0.36973	0.0:0.8303:0.0:0.1697	.	19	O15144	ARPC2_HUMAN	L	19	.	ENSP00000295685:F19L	F	+	3	2	ARPC2	218790495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.193000	0.58385	0.801000	0.34066	0.591000	0.81541	TTC	ARPC2	-	NULL		0.677	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	C	NM_005731		219082250	1	no_errors	ENST00000295685	ensembl	human	known	70_37	missense	SNP	1.000	G	G	219082250	C	G	219082250	3	3	45	1	0	0	0	0	1	0	0	0	972	883	31	1	59	1	ARPC2	2	219082250	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	3207057	219082250	24117123	30	6155										
UGT1A1	54658	genome.wustl.edu	37	chr2	234669139	234669139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgacgcctcgttgtacatcaGagacggagcattttacacct	9	11	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:234669139G>A	ENST00000608383.1	+	1	206	c.206G>A	c.(205-207)aGa>aAa	p.R69K	UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.R69K|UGT1A1_ENST00000360418.3_Missense_Mutation_p.R69K|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	69					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTGTACATCAGAGACGGAGCA	0.502																																																	0													179	153	162					2																	234669139		2203	4300	6503	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.206G>A	2.37:g.234669139G>A	ENSP00000476741:p.Arg69Lys		A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R69K	ENST00000608383.1	37	c.206	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	G	0.664	-0.804625	0.02819	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.61274	0.12;0.12	6.07	-1.81	0.07882	.	.	.	.	.	T	0.17492	0.0420	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.30592	-0.9973	9	0.02654	T	1	.	2.8791	0.05641	0.4166:0.3299:0.1551:0.0984	.	69;69	A6NJC3;P22309	.;UD11_HUMAN	K	69	ENSP00000304845:R69K;ENSP00000353593:R69K	ENSP00000304845:R69K	R	+	2	0	UGT1A1	234333878	0.000000	0.05858	0.067000	0.19924	0.322000	0.28314	0.133000	0.15912	-0.125000	0.11703	-0.312000	0.09012	AGA	UGT1A1	-	pfam_UDP_glucos_trans		0.502	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		G			234669139	1	no_errors	ENST00000305208	ensembl	human	known	70_37	missense	SNP	0.000	A	A	234669139	G	A	234669139	3	1	45	1	0	0	0	0	1	0	0	0	16975	942	33	1	208	1	UGT1A1	2	234669139	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	15586889	234669139	8530234	31	6156										
COL6A3	1293	genome.wustl.edu	37	chr2	238243461	238243461	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aaaataaggaccggggggctCagccctctcccagtggagtt	13	11	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:238243461C>T	ENST00000295550.4	-	41	9489	c.9037G>A	c.(9037-9039)Gag>Aag	p.E3013K	COL6A3_ENST00000472056.1_Missense_Mutation_p.E2406K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2812K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2807K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2807K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2813K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3013	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGGGGGGCTCAGCCCTCTCC	0.522																																																	0													77	83	81					2																	238243461		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9037G>A	2.37:g.238243461C>T	ENSP00000295550:p.Glu3013Lys		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E3013K	ENST00000295550.4	37	c.9037	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020687	0.35606	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.29	4.42	0.53409	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.109105	0.40144	N	0.001164	T	0.32852	0.0843	L	0.59436	1.845	0.41833	D	0.990081	B;B;B	0.18461	0.001;0.002;0.028	B;B;B	0.17433	0.004;0.01;0.018	T	0.17561	-1.0365	10	0.87932	D	0	.	14.181	0.65574	0.0:0.9279:0.0:0.0721	.	2406;2807;3013	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	K	3013;2812;2807;2406;2807;2813	ENSP00000295550:E3013K;ENSP00000315609:E2812K;ENSP00000315873:E2807K;ENSP00000418285:E2406K;ENSP00000386844:E2807K;ENSP00000295546:E2813K	ENSP00000295550:E3013K	E	-	1	0	COL6A3	237908200	0.999000	0.42202	0.760000	0.31359	0.453000	0.32348	5.747000	0.68689	1.234000	0.43709	0.563000	0.77884	GAG	COL6A3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238243461	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.980	T	T	238243461	C	T	238243461	3	4	45	1	0	0	0	0	1	0	0	0	3706	835	29	1	512	1	COL6A3	2	238243461	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	3574322	238243461	4955912	32	6157										
ATP2B2	491	genome.wustl.edu	37	chr3	10417157	10417157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tggtgacggccagagggagcCcctcgggcacggcgaccacc	16	15	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:10417157C>T	ENST00000352432.4	-	10	1442	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	ATP2B2_ENST00000360273.2_Missense_Mutation_p.G458E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G444E|ATP2B2_ENST00000397077.1_Missense_Mutation_p.G413E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G413E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	458					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGAGGGAGCCCCTCGGGCAC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)												0													72	75	74					3																	10417157		2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1373G>A	3.37:g.10417157C>T	ENSP00000324172:p.Gly458Glu		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G458E	ENST00000352432.4	37	c.1373	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963032	0.92791	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	4.34	4.34	0.51931	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97165	0.9840	10	0.87932	D	0	-32.4393	17.0685	0.86567	0.0:1.0:0.0:0.0	.	393;425;458	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	E	458;413;413;458;444;393;314;458	ENSP00000324172:G458E;ENSP00000373311:G413E;ENSP00000380267:G413E;ENSP00000353414:G458E;ENSP00000344677:G444E;ENSP00000414854:G314E	ENSP00000342954:G458E	G	-	2	0	ATP2B2	10392157	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.234000	0.73211	0.561000	0.74099	GGG	ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	C	NM_001683		10417157	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10417157	C	T	10417157	3	4	45	1	0	0	0	0	1	0	0	0	1141	623	22	4	2410	4	ATP2B2	3	10417157	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		10417157	187605273	33	6158										
KCNH8	131096	genome.wustl.edu	37	chr3	19190254	19190254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tggcgccgcaaaacaccttcCtggacaccatcgccacccgt	8	18	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:19190254C>T	ENST00000328405.2	+	1	309	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	15					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAACACCTTCCTGGACACCAT	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)												0													153	140	144					3																	19190254		2203	4300	6503	SO:0001819	synonymous_variant	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.43C>T	3.37:g.19190254C>T			B7Z2I7|Q59GQ6	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L15	ENST00000328405.2	37	c.43	CCDS2632.1	3																																																																																			KCNH8	-	NULL		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	C	NM_144633		19190254	1	no_errors	ENST00000328405	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19190254	C	T	19190254	2	4	45	1	0	0	0	0	0	0	0	1	8058	680	24	4		4	KCNH8	3	19190254	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	8773097	19190254	178832176	34	6159										
RARB	5915	genome.wustl.edu	37	chr3	25542806	25542806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtgctttgaagtgggaatgtCcaaagaatgtaagtggagtc	14	4	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:25542806C>T	ENST00000404969.1	+	3	461	c.461C>T	c.(460-462)tCc>tTc	p.S154F	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.S35F|RARB_ENST00000330688.4_Missense_Mutation_p.S147F|RARB_ENST00000437042.2_Missense_Mutation_p.S35F			P10826	RARB_HUMAN	retinoic acid receptor, beta	154	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GTGGGAATGTCCAAAGAATGT	0.403																																																	0													94	93	93					3																	25542806		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.461C>T	3.37:g.25542806C>T	ENSP00000385865:p.Ser154Phe		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S154F	ENST00000404969.1	37	c.461		3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514482	0.85389	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (3);	0.061317	0.64402	D	0.000003	D	0.98501	0.9500	M	0.85373	2.75	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.76071	0.987;0.968	D	0.99828	1.1052	10	0.87932	D	0	.	17.5994	0.88022	0.0:1.0:0.0:0.0	.	154;147	P10826;F1D8S6	RARB_HUMAN;.	F	154;154;154;35;147;35	ENSP00000373282:S154F;ENSP00000385865:S154F;ENSP00000398840:S35F;ENSP00000332296:S147F;ENSP00000391391:S35F	ENSP00000332296:S147F	S	+	2	0	RARB	25517810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.138000	0.66242	0.650000	0.86243	TCC	RARB	-	pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt		0.403	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		C	NM_000965, NM_016152		25542806	1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25542806	C	T	25542806	3	4	45	1	0	0	0	0	1	0	0	0	13083	855	30	1	450	1	RARB	3	25542806	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	6352552	25542806	172479624	35	6160										
ITIH4	3700	genome.wustl.edu	37	chr3	52847505	52847505	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctggtaatccagcctgcgctCtctgaaatggaaagacagac	10	11	1	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:52847505C>T	ENST00000266041.4	-	24	2821	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	ITIH4_ENST00000485816.1_Splice_Site_p.E914K|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Splice_Site_p.E879K|ITIH4_ENST00000346281.5_Splice_Site_p.E893K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	909					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCCTGCGCTCTCTGAAATGG	0.577																																																	0													59	66	63					3																	52847505		2203	4300	6503	SO:0001630	splice_region_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2724-1G>A	3.37:g.52847505C>T			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.E909K	ENST00000266041.4	37	c.2725	CCDS2865.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.065|3.065	-0.192477|-0.192477	0.06259|0.06259	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421|ENST00000441637	T;T;T;T|T	0.10860|0.15718	2.83;2.83;2.83;2.83|2.4	4.3|4.3	0.482|0.482	0.16815|0.16815	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);|.	0.960657|.	0.08556|.	N|.	0.928206|.	T|T	0.11324|0.11324	0.0276|0.0276	N|N	0.25890|0.25890	0.77|0.77	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.10296|.	0.002;0.003;0.003;0.0|.	B;B;B;B|.	0.16289|.	0.009;0.015;0.015;0.005|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|6	0.25751|.	T|.	0.34|.	-12.4124|-12.4124	3.3725|3.3725	0.07225|0.07225	0.1914:0.5137:0.0:0.2948|0.1914:0.5137:0.0:0.2948	.|.	879;914;909;893|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	K|K	909;893;914;879;867|697	ENSP00000266041:E909K;ENSP00000340520:E893K;ENSP00000417824:E914K;ENSP00000384425:E879K|ENSP00000395634:R697K	ENSP00000266041:E909K|.	E|R	-|-	1|2	0|0	ITIH4|ITIH4	52822545|52822545	0.928000|0.928000	0.31464|0.31464	0.974000|0.974000	0.42286|0.42286	0.270000|0.270000	0.26580|0.26580	0.104000|0.104000	0.15313|0.15313	0.061000|0.061000	0.16311|0.16311	-0.254000|-0.254000	0.11334|0.11334	GAG|AGA	ITIH4	-	pfam_ITI_HC_C		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	C	NM_002218	Missense_Mutation	52847505	-1	no_errors	ENST00000266041	ensembl	human	known	70_37	missense	SNP	0.978	T	T	52847505	C	T	52847505	5	4	45	1	0	0	0	0	0	0	1	0	7926	927	32	1	71	1	ITIH4	3	52847505	Splice_Site	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	27304699	52847505	145174925	36	6161										
CNTN3	5067	genome.wustl.edu	37	chr3	74344283	74344283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agaaattacctcatagcccaGtaaatgtccattgctcaact	5	11	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:74344283G>T	ENST00000263665.6	-	18	2533	c.2506C>A	c.(2506-2508)Ctg>Atg	p.L836M		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	836	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCATAGCCCAGTAAATGTCCA	0.398																																																	0													112	102	105					3																	74344283		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2506C>A	3.37:g.74344283G>T	ENSP00000263665:p.Leu836Met		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L836M	ENST00000263665.6	37	c.2506	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916748	0.52546	.	.	ENSG00000113805	ENST00000263665	T	0.58652	0.32	5.75	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.64404	1.975	0.47819	D	0.999523	P	0.48016	0.904	P	0.47941	0.562	T	0.64812	-0.6319	10	0.52906	T	0.07	.	14.1975	0.65682	0.0711:0.0:0.9289:0.0	.	836	Q9P232	CNTN3_HUMAN	M	836	ENSP00000263665:L836M	ENSP00000263665:L836M	L	-	1	2	CNTN3	74426973	1.000000	0.71417	0.901000	0.35422	0.962000	0.63368	4.980000	0.63812	2.708000	0.92522	0.650000	0.86243	CTG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	G	NM_020872		74344283	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	0.862	T	T	74344283	G	T	74344283	3	4	45	1	0	0	0	0	1	0	0	0	3647	1020	36	4	600	4	CNTN3	3	74344283	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	21496778	74344283	123678147	37	6162										
BBX	56987	genome.wustl.edu	37	chr3	107474452	107474452	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtctttaatatagatttcttCaaacacttcgcagttgggtg	8	7	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:107474452C>G	ENST00000325805.8	+	10	1120	c.833C>G	c.(832-834)tCa>tGa	p.S278*	BBX_ENST00000402543.1_Nonsense_Mutation_p.S278*|BBX_ENST00000406780.1_Nonsense_Mutation_p.S278*|BBX_ENST00000415149.2_Nonsense_Mutation_p.S278*|BBX_ENST00000416476.2_Nonsense_Mutation_p.S278*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	278					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TAGATTTCTTCAAACACTTCG	0.368																																																	0													106	115	112					3																	107474452		2203	4300	6503	SO:0001587	stop_gained	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.833C>G	3.37:g.107474452C>G	ENSP00000319974:p.Ser278*		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S278*	ENST00000325805.8	37	c.833	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.233753	0.98154	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	.	.	.	5.57	5.57	0.84162	.	0.252395	0.41294	D	0.000907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.9261	15.3872	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	X	278;129;278;278;278;278;278	.	ENSP00000319742:S129X	S	+	2	0	BBX	108957142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.538000	0.60650	2.779000	0.95612	0.591000	0.81541	TCA	BBX	-	pfam_TF_HMG_box_BBX_DUF2028		0.368	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	C	NM_020235		107474452	1	no_errors	ENST00000325805	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	107474452	C	G	107474452	4	3	45	1	0	0	0	0	0	1	0	0	1344	838	29	1	859	1	BBX	3	107474452	Nonsense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	33130169	107474452	90547978	38	6163										
KIAA2018	205717	genome.wustl.edu	37	chr3	113374816	113374816	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgtgtttcgaccttgaatatCtcctgaggaagaggaacttg	11	7	1	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:113374816C>G	ENST00000478658.1	-	5	5730	c.5713G>C	c.(5713-5715)Gat>Cat	p.D1905H	KIAA2018_ENST00000316407.4_Missense_Mutation_p.D1905H|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1905						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTTGAATATCTCCTGAGGAA	0.448																																																	0													88	85	86					3																	113374816		1967	4154	6121	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5713G>C	3.37:g.113374816C>G	ENSP00000420721:p.Asp1905His		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.D1905H	ENST00000478658.1	37	c.5713	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	c	17.41	3.381547	0.61845	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.25912	1.77;1.77	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.30268	-0.9984	10	0.87932	D	0	-12.824	19.8944	0.96949	0.0:1.0:0.0:0.0	.	1905	Q68DE3	K2018_HUMAN	H	1905	ENSP00000320794:D1905H;ENSP00000420721:D1905H	ENSP00000320794:D1905H	D	-	1	0	KIAA2018	114857506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.136000	0.77285	2.779000	0.95612	0.563000	0.77884	GAT	KIAA2018	-	NULL		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113374816	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113374816	C	G	113374816	3	3	45	1	0	0	0	0	1	0	0	0	8288	913	32	1	1028	1	KIAA2018	3	113374816	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	5900364	113374816	84647614	39	6164										
CCDC37	348807	genome.wustl.edu	37	chr3	126151933	126151933	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gacagggaggtcaaccagctGaagcagtgggtcaccacaat	13	10	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:126151933G>C	ENST00000352312.1	+	14	1407	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	CCDC37_ENST00000505024.1_Silent_p.L437L|CCDC37_ENST00000393425.1_Silent_p.L437L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	436										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCAACCAGCTGAAGCAGTGGG	0.577																																																	0													95	82	86					3																	126151933		2203	4300	6503	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1308G>C	3.37:g.126151933G>C			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.L437	ENST00000352312.1	37	c.1311	CCDS3037.1	3																																																																																			CCDC37	-	superfamily_SuperAg_toxin_C_Staph/Strep		0.577	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126151933	1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	1.000	C	C	126151933	G	C	126151933	2	2	45	1	0	0	0	0	0	0	0	1	2814	1277	45	1		1	CCDC37	3	126151933	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	12777117	126151933	71870497	40	6165										
ASTE1	28990	genome.wustl.edu	37	chr3	130743916	130743916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgaaatgtcacatcctccatCtaatacaacatatgggcata	5	10	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:130743916C>G	ENST00000264992.3	-	3	676	c.235G>C	c.(235-237)Gat>Cat	p.D79H	NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000511262.1_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.D79H|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	79					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CATCCTCCATCTAATACAACA	0.398																																																	0													105	100	102					3																	130743916		2203	4300	6503	SO:0001583	missense	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.235G>C	3.37:g.130743916C>G	ENSP00000264992:p.Asp79His		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N	p.D79H	ENST00000264992.3	37	c.235	CCDS3068.1	3	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688750	0.48097	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	T;T	0.75260	-0.92;-0.92	5.45	5.45	0.79879	XPG N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.88775	2.98	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90673	0.4599	10	0.87932	D	0	-27.3089	18.909	0.92475	0.0:1.0:0.0:0.0	.	79;79	D6RG30;Q2TB18	.;ASTE1_HUMAN	H	79	ENSP00000426421:D79H;ENSP00000264992:D79H	ENSP00000264992:D79H	D	-	1	0	ASTE1	132226606	1.000000	0.71417	0.838000	0.33150	0.225000	0.24961	5.447000	0.66606	2.555000	0.86185	0.655000	0.94253	GAT	ASTE1	-	pfam_XPG_DNA_repair_N		0.398	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1	C	NM_014065		130743916	-1	no_errors	ENST00000264992	ensembl	human	known	70_37	missense	SNP	0.997	G	G	130743916	C	G	130743916	3	3	45	1	0	0	0	0	1	0	0	0	1063	913	32	1	1820	1	ASTE1	3	130743916	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	4591983	130743916	67278514	41	6166										
SLCO2A1	6578	genome.wustl.edu	37	chr3	133663963	133663963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgcttggaggttgcagagctCatgttgatgttgctgcagcc	14	8	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:133663963C>G	ENST00000310926.4	-	10	1710	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.M403I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	479	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TTGCAGAGCTCATGTTGATGT	0.582																																																	0													133	131	131					3																	133663963		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1437G>C	3.37:g.133663963C>G	ENSP00000311291:p.Met479Ile		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M479I	ENST00000310926.4	37	c.1437	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149788	0.37923	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.04119	3.7;3.7	5.45	-1.37	0.09056	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	.	.	.	.	T	0.01124	0.0037	N	0.00399	-1.545	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.47086	-0.9144	9	0.19590	T	0.45	.	2.8633	0.05593	0.149:0.2594:0.4138:0.1778	.	298;403;479	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	I	479;403	ENSP00000311291:M479I;ENSP00000418893:M403I	ENSP00000311291:M479I	M	-	3	0	SLCO2A1	135146653	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.920000	0.04013	-0.243000	0.09653	0.491000	0.48974	ATG	SLCO2A1	-	pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	C	NM_005630		133663963	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	0.001	G	G	133663963	C	G	133663963	3	3	45	1	0	0	0	0	1	0	0	0	14756	826	29	1	514	1	SLCO2A1	3	133663963	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2920047	133663963	64358467	42	6167										
CLSTN2	64084	genome.wustl.edu	37	chr3	140281742	140281742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cccttgaggcccggcgtttcCggattaagtgctcagaactc	11	13	1	2	rs542507966		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:140281742C>T	ENST00000458420.3	+	14	2492	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	768					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R768W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCGGCGTTTCCGGATTAAGTG	0.567										HNSCC(16;0.037)			C|||	1	0.000199681	8e-04	0	5008	,	,		21152	0		0	False		,,,				2504	0				GBM(45;858 913 3709 36904 37282)												1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											55	53	54					3																	140281742		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2302C>T	3.37:g.140281742C>T	ENSP00000402460:p.Arg768Trp		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R768W	ENST00000458420.3	37	c.2302	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605311	0.66445	.	.	ENSG00000158258	ENST00000458420	T	0.36157	1.27	4.95	2.9	0.33743	.	0.361316	0.29631	N	0.011619	T	0.45518	0.1346	M	0.68593	2.085	0.40970	D	0.984695	D	0.71674	0.998	P	0.53185	0.72	T	0.46721	-0.9171	9	.	.	.	-17.3179	10.5957	0.45336	0.5482:0.4518:0.0:0.0	.	768	Q9H4D0	CSTN2_HUMAN	W	768	ENSP00000402460:R768W	.	R	+	1	2	CLSTN2	141764432	0.989000	0.36119	0.992000	0.48379	0.937000	0.57800	2.285000	0.43487	1.088000	0.41272	0.655000	0.94253	CGG	CLSTN2	-	NULL		0.567	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	C	NM_022131		140281742	1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	0.850	T	T	140281742	C	T	140281742	3	4	45	1	0	0	0	0	1	0	0	0	3567	643	23	2	2356	2	CLSTN2	3	140281742	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	6617779	140281742	57740688	43	6168										
SCFD2	152579	genome.wustl.edu	37	chr4	53752028	53752028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tagtcactaggatgaggccgGctcacctgcaaaacaaaaca	9	11	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:53752028G>A	ENST00000401642.3	-	8	1981	c.1848C>T	c.(1846-1848)agC>agT	p.S616S	SCFD2_ENST00000388940.4_Silent_p.S571S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	616					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GATGAGGCCGGCTCACCTGCA	0.498																																																	0													85	69	74					4																	53752028		2203	4300	6503	SO:0001819	synonymous_variant	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1848C>T	4.37:g.53752028G>A			Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.S616	ENST00000401642.3	37	c.1848	CCDS33984.1	4																																																																																			SCFD2	-	pfam_Sec1-like,superfamily_Sec1-like		0.498	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	G	NM_152540		53752028	-1	no_errors	ENST00000401642	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53752028	G	A	53752028	2	1	45	1	0	0	0	0	0	0	0	1	13920	1194	42	4		4	SCFD2	4	53752028	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		53752028	137402248	44	6169										
SPARCL1	8404	genome.wustl.edu	37	chr4	88416150	88416150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	taccttatggtgggaatcgtCttctgtggatactgctgttt	11	7	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:88416150C>T	ENST00000282470.6	-	3	654	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D62N|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	62					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGGGAATCGTCTTCTGTGGAT	0.363																																																	0													125	133	131					4																	88416150		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.184G>A	4.37:g.88416150C>T	ENSP00000282470:p.Asp62Asn		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.D62N	ENST00000282470.6	37	c.184	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495203	0.26774	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.42	2.54	0.30619	.	0.254691	0.29159	N	0.012971	T	0.20618	0.0496	N	0.19112	0.55	0.20403	N	0.999904	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.18777	-1.0326	10	0.10377	T	0.69	-1.8187	5.0193	0.14352	0.0:0.7083:0.0:0.2917	.	62;62	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	62	ENSP00000282470:D62N;ENSP00000414856:D62N;ENSP00000423483:D62N;ENSP00000416971:D62N;ENSP00000438188:D62N;ENSP00000423448:D62N;ENSP00000444832:D62N	ENSP00000282470:D62N	D	-	1	0	SPARCL1	88635174	0.999000	0.42202	0.897000	0.35233	0.040000	0.13550	0.606000	0.24194	0.695000	0.31675	0.655000	0.94253	GAC	SPARCL1	-	pirsf_SPARC-like_p1		0.363	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88416150	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.918	T	T	88416150	C	T	88416150	3	4	45	1	0	0	0	0	1	0	0	0	15026	913	32	1	1846	1	SPARCL1	4	88416150	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	34664122	88416150	102738126	45	6170										
HERC5	51191	genome.wustl.edu	37	chr4	89426997	89426997	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cagttgaagaagcgcttcaaGaagccatcaacaacaacaga	8	10	2	4			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:89426997G>A	ENST00000264350.3	+	23	3196	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K	HERC5_ENST00000508159.1_Missense_Mutation_p.E653K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1015	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGCGCTTCAAGAAGCCATCAA	0.403																																					Esophageal Squamous(39;887 1012 34045 50514)												0													57	57	57					4																	89426997		2203	4300	6503	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.3043G>A	4.37:g.89426997G>A	ENSP00000264350:p.Glu1015Lys		B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E1015K	ENST00000264350.3	37	c.3043	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889425	0.33348	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.56275	0.47;0.47	4.33	1.38	0.22167	HECT (4);	1.535250	0.04446	N	0.371722	T	0.23926	0.0579	N	0.01446	-0.86	0.09310	N	1	B	0.11235	0.004	B	0.25987	0.065	T	0.27054	-1.0085	10	0.15499	T	0.54	.	2.7109	0.05174	0.3527:0.0:0.4393:0.208	.	1015	Q9UII4	HERC5_HUMAN	K	1015;653	ENSP00000264350:E1015K;ENSP00000424129:E653K	ENSP00000264350:E1015K	E	+	1	0	HERC5	89646020	0.000000	0.05858	0.005000	0.12908	0.953000	0.61014	0.358000	0.20216	0.472000	0.27344	0.591000	0.81541	GAA	HERC5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.403	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	G	NM_016323		89426997	1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.000	A	A	89426997	G	A	89426997	3	1	45	1	0	0	0	0	1	0	0	0	7081	943	33	1	3133	1	HERC5	4	89426997	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	1010847	89426997	101727279	46	6171										
CAMK2D	817	genome.wustl.edu	37	chr4	114386752	114386752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agtgactttgataatctcttGctttcgtgctaaaggcaaaa	8	7	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:114386752G>T	ENST00000342666.5	-	15	1041	c.1042C>A	c.(1042-1044)Caa>Aaa	p.Q348K	CAMK2D_ENST00000394524.3_Missense_Mutation_p.Q348K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Q347K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Q348K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Q382K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Q362K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Q359K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Q382K|CAMK2D_ENST00000454265.2_Missense_Mutation_p.Q373K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Q359K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Q348K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.Q359K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Q368K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Q362K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	348					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATAATCTCTTGCTTTCGTGCT	0.353																																																	0													105	103	104					4																	114386752		2203	4300	6503	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1042C>A	4.37:g.114386752G>T	ENSP00000339740:p.Gln348Lys		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.Q373K	ENST00000342666.5	37	c.1117	CCDS3703.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.242549|5.242549	0.95272|0.95272	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000513132|ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.99	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64832|0.64832	0.2634|0.2634	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P;P;D;P;D	.|0.62365	.|0.949;0.925;0.984;0.812;0.991	.|P;P;P;P;D	.|0.79784	.|0.777;0.79;0.867;0.615;0.993	T|T	0.58907|0.58907	-0.7553|-0.7553	5|10	.|0.20046	.|T	.|0.44	.|.	19.3976|19.3976	0.94612|0.94612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;359;362;348;348	.|E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.|.;.;.;.;KCC2D_HUMAN	E|K	51|348;373;368;362;359;348;382;348;359;347;362;382;348;359;141	.|ENSP00000378032:Q348K;ENSP00000415248:Q373K;ENSP00000415707:Q368K;ENSP00000406131:Q362K;ENSP00000378034:Q359K;ENSP00000296402:Q348K;ENSP00000425824:Q382K;ENSP00000339740:Q348K;ENSP00000423482:Q359K;ENSP00000423677:Q347K;ENSP00000378030:Q362K;ENSP00000424245:Q382K;ENSP00000369098:Q348K;ENSP00000422566:Q359K;ENSP00000423753:Q141K	.|ENSP00000296402:Q348K	A|Q	-|-	2|1	0|0	CAMK2D|CAMK2D	114606201|114606201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.421000|9.421000	0.97455|0.97455	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GCA|CAA	CAMK2D	-	pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom		0.353	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	G			114386752	-1	no_errors	ENST00000454265	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114386752	G	T	114386752	3	4	45	1	0	0	0	0	1	0	0	0	2606	1328	46	4	485	4	CAMK2D	4	114386752	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	24959755	114386752	76767524	47	6172										
TAS2R1	50834	genome.wustl.edu	37	chr5	9629839	9629839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctggcaaccttggcacaataGaaaacgccgagccatgtggc	11	12	0	1	rs553576885		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:9629839G>A	ENST00000382492.2	-	1	624	c.306C>T	c.(304-306)ttC>ttT	p.F102F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	102					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGGCACAATAGAAAACGCCGA	0.443																																																	0													33	35	34					5																	9629839		2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.306C>T	5.37:g.9629839G>A			Q646G8	Silent	SNP	pfam_TAS2_rcpt	p.F102	ENST00000382492.2	37	c.306	CCDS3876.1	5																																																																																			TAS2R1	-	pfam_TAS2_rcpt		0.443	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	G			9629839	-1	no_errors	ENST00000382492	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9629839	G	A	9629839	2	1	45	1	0	0	0	0	0	0	0	1	15595	933	33	1		1	TAS2R1	5	9629839	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		9629839	171285421	48	6173										
SLC45A2	51151	genome.wustl.edu	37	chr5	33963886	33963886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttctcgatagaaccatactcGtacattccatctgatgacaa	5	11	2	3	rs375077956		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:33963886G>T	ENST00000296589.4	-	3	944	c.798C>A	c.(796-798)taC>taA	p.Y266*	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000382102.3_Nonsense_Mutation_p.Y266*|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.Y207*	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	266					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACCATACTCGTACATTCCAT	0.453																																					Ovarian(31;380 859 8490 22203 49048)												0													145	151	149					5																	33963886		2203	4300	6503	SO:0001587	stop_gained	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.798C>A	5.37:g.33963886G>T	ENSP00000296589:p.Tyr266*		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.Y266*	ENST00000296589.4	37	c.798	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159866	0.57368	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	.	.	.	5.83	-11.6	0.00059	.	1.663060	0.03398	N	0.202887	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.3921	13.7826	0.63091	0.3107:0.0:0.6001:0.0892	.	.	.	.	X	266;207;266;91	.	ENSP00000296589:Y266X	Y	-	3	2	SLC45A2	33999643	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	-0.457000	0.06745	-2.594000	0.00455	-0.471000	0.05019	TAC	SLC45A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	G	NM_016180		33963886	-1	no_errors	ENST00000296589	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	33963886	G	T	33963886	4	4	45	1	0	0	0	0	0	1	0	0	14671	1140	40	2	829	2	SLC45A2	5	33963886	Nonsense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	24334047	33963886	146951374	49	6174										
C5orf34	375444	genome.wustl.edu	37	chr5	43509274	43509274	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtgctaatgacaaaatgtgtCctttgacgaattctttctgg	9	7	2	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:43509274C>G	ENST00000306862.2	-	2	543	c.168G>C	c.(166-168)agG>agC	p.R56S	RP11-159F24.3_ENST00000505645.1_RNA|RP11-159F24.6_ENST00000512498.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	56										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CAAAATGTGTCCTTTGACGAA	0.388																																																	0													110	108	109					5																	43509274		2203	4300	6503	SO:0001583	missense	375444			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.168G>C	5.37:g.43509274C>G	ENSP00000303490:p.Arg56Ser			Missense_Mutation	SNP	NULL	p.R56S	ENST00000306862.2	37	c.168	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728605	0.69074	.	.	ENSG00000172244	ENST00000306862	T	0.49139	0.79	4.93	1.11	0.20524	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.77616	2.38	0.42933	D	0.994325	D	0.89917	1.0	D	0.87578	0.998	T	0.63102	-0.6712	10	0.87932	D	0	-12.5597	7.8221	0.29294	0.0:0.6606:0.0:0.3394	.	56	Q96MH7	CE034_HUMAN	S	56	ENSP00000303490:R56S	ENSP00000303490:R56S	R	-	3	2	C5orf34	43545031	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	-0.042000	0.12063	0.230000	0.21059	0.655000	0.94253	AGG	C5orf34	-	NULL		0.388	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	C	NM_198566		43509274	-1	no_errors	ENST00000306862	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43509274	C	G	43509274	3	3	45	1	0	0	0	0	1	0	0	0	2298	854	30	1	1796	1	C5orf34	5	43509274	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	9545388	43509274	137405986	50	6175										
F2RL2	2151	genome.wustl.edu	37	chr5	75913661	75913661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	caaccatctatgatcgtatgCattaagtgtccggatgatgg	10	8	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:75913661C>T	ENST00000296641.4	-	2	1074	c.871G>A	c.(871-873)Gca>Aca	p.A291T	F2RL2_ENST00000504899.1_Missense_Mutation_p.A269T|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	291					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGATCGTATGCATTAAGTGTC	0.378																																																	0													94	83	87					5																	75913661		2203	4300	6503	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.871G>A	5.37:g.75913661C>T	ENSP00000296641:p.Ala291Thr		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.A291T	ENST00000296641.4	37	c.871	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	C	3.289	-0.145443	0.06627	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.37235	1.21;1.21	5.3	-2.55	0.06288	GPCR, rhodopsin-like superfamily (1);	0.805653	0.11562	N	0.551675	T	0.18509	0.0444	N	0.21194	0.64	0.09310	N	1	B	0.21071	0.051	B	0.19946	0.027	T	0.28004	-1.0057	10	0.17832	T	0.49	-0.1072	5.6326	0.17518	0.2134:0.3039:0.0:0.4827	.	291	O00254	PAR3_HUMAN	T	291;269	ENSP00000296641:A291T;ENSP00000426703:A269T	ENSP00000296641:A291T	A	-	1	0	F2RL2	75949417	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.940000	0.03929	-1.025000	0.03334	-0.222000	0.12452	GCA	F2RL2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.378	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	HGNC	protein_coding	OTTHUMT00000219958.3	C			75913661	-1	no_errors	ENST00000296641	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75913661	C	T	75913661	3	4	45	1	0	0	0	0	1	0	0	0	5357	710	25	4	257	4	F2RL2	5	75913661	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	32404387	75913661	105001599	51	6176										
GPR98	84059	genome.wustl.edu	37	chr5	90074700	90074700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aggttaacatcacaatcatcCgttccagtggagattttggc	9	9	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:90074700C>T	ENST00000405460.2	+	64	12964	c.12868C>T	c.(12868-12870)Cgt>Tgt	p.R4290C	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4290	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4290C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACAATCATCCGTTCCAGTGG	0.438																																																	1	Substitution - Missense(1)	lung(1)											141	145	144					5																	90074700		2117	4245	6362	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12868C>T	5.37:g.90074700C>T	ENSP00000384582:p.Arg4290Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4290C	ENST00000405460.2	37	c.12868	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582898	0.86748	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.56275	0.47	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87759	0.2597	10	0.87932	D	0	.	19.6397	0.95753	0.0:1.0:0.0:0.0	.	4290	Q8WXG9	GPR98_HUMAN	C	4290	ENSP00000384582:R4290C	ENSP00000296619:R4290C	R	+	1	0	GPR98	90110456	1.000000	0.71417	0.125000	0.21846	0.013000	0.08279	7.031000	0.76491	2.632000	0.89209	0.655000	0.94253	CGT	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90074700	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90074700	C	T	90074700	3	4	45	1	0	0	0	0	1	0	0	0	6741	652	23	2	13122	2	GPR98	5	90074700	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	14161039	90074700	90840560	52	6177										
MCTP1	79772	genome.wustl.edu	37	chr5	94046549	94046549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	caaggacaatgtatctcagcGgaatgcagtacaggatggct	12	8	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:94046549G>A	ENST00000515393.1	-	21	2803	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	MCTP1_ENST00000505078.1_Missense_Mutation_p.P451L|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.P628L|MCTP1_ENST00000312216.8_Missense_Mutation_p.P714L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	935					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTATCTCAGCGGAATGCAGTA	0.458																																																	0													108	91	97					5																	94046549		2203	4300	6503	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2804C>T	5.37:g.94046549G>A	ENSP00000424126:p.Pro935Leu		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.P935L	ENST00000515393.1	37	c.2804	CCDS34203.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903131	0.92035	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	D;D;T;D;D	0.90504	-2.6;-2.57;-1.41;-2.68;-2.39	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95964	0.8964	10	0.72032	D	0.01	-9.4155	20.0411	0.97590	0.0:0.0:1.0:0.0	.	935;628;714	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	L	935;628;451;714;655	ENSP00000424126:P935L;ENSP00000391639:P628L;ENSP00000426417:P451L;ENSP00000308957:P714L;ENSP00000423410:P655L	ENSP00000308957:P714L	P	-	2	0	MCTP1	94072305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.739000	0.93911	0.655000	0.94253	CCG	MCTP1	-	pfam_PRibTrfase_C		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	G	NM_024717		94046549	-1	no_errors	ENST00000515393	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94046549	G	A	94046549	3	1	45	1	0	0	0	0	1	0	0	0	9423	1116	39	2	207	2	MCTP1	5	94046549	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	3971849	94046549	86868711	53	6178										
FBN2	2201	genome.wustl.edu	37	chr5	127704974	127704974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cactgcaccggggaaaggacGcacacacactcctttcttga	9	14	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:127704974G>A	ENST00000508053.1	-	22	3123	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	FBN2_ENST00000508989.1_Missense_Mutation_p.R684C|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.R717C|Y_RNA_ENST00000384560.1_RNA			P35556	FBN2_HUMAN	fibrillin 2	717	TB 3.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R717C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGAAAGGACGCACACACACT	0.483																																																	2	Substitution - Missense(2)	large_intestine(2)											181	141	154					5																	127704974		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2149C>T	5.37:g.127704974G>A	ENSP00000424571:p.Arg717Cys		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R717C	ENST00000508053.1	37	c.2149	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684778	0.47991	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92965	-3.14;-3.14;-3.14	4.35	4.35	0.52113	Matrix fibril-associated (3);TGF-beta binding (1);	0.083491	0.48767	D	0.000169	D	0.95912	0.8669	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.947	D	0.95079	0.8211	10	0.40728	T	0.16	.	18.1761	0.89761	0.0:0.0:1.0:0.0	.	684;717	D6RJI3;P35556	.;FBN2_HUMAN	C	717;717;684	ENSP00000262464:R717C;ENSP00000424571:R717C;ENSP00000425596:R684C	ENSP00000262464:R717C	R	-	1	0	FBN2	127732873	0.795000	0.28851	1.000000	0.80357	0.093000	0.18481	2.477000	0.45180	2.707000	0.92482	0.655000	0.94253	CGT	FBN2	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN		0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127704974	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	A	A	127704974	G	A	127704974	3	1	45	1	0	0	0	0	1	0	0	0	5721	1087	38	2	6789	2	FBN2	5	127704974	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	33658425	127704974	53210286	54	6179										
SEC24A	10802	genome.wustl.edu	37	chr5	134010893	134010893	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	catgaagacatccagaaactCaactgtaacccagagtaagg	8	10	1	4			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:134010893C>G	ENST00000398844.2	+	6	1425	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	SEC24A_ENST00000322887.4_Silent_p.L379L	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	379					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGAAACTCAACTGTAACC	0.418																																																	0													70	64	66					5																	134010893		1858	4103	5961	SO:0001819	synonymous_variant	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1137C>G	5.37:g.134010893C>G			A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.L379	ENST00000398844.2	37	c.1137	CCDS43363.1	5																																																																																			SEC24A	-	NULL		0.418	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	C			134010893	1	no_errors	ENST00000398844	ensembl	human	known	70_37	silent	SNP	0.999	G	G	134010893	C	G	134010893	2	3	45	1	0	0	0	0	0	0	0	1	14024	813	29	1		1	SEC24A	5	134010893	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	6305919	134010893	46904367	55	6180										
FOXI1	2299	genome.wustl.edu	37	chr5	169533237	169533237	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccccaggcctatggagtgcaGaggccgctgctgcccagcgt	14	15	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:169533237G>A	ENST00000306268.6	+	1	337	c.276G>A	c.(274-276)caG>caA	p.Q92Q	FOXI1_ENST00000449804.2_Silent_p.Q92Q			Q12951	FOXI1_HUMAN	forkhead box I1	92	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGTGCAGAGGCCGCTGC	0.706									Pendred syndrome																																								0													8	7	8					5																	169533237		2182	4251	6433	SO:0001819	synonymous_variant	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.276G>A	5.37:g.169533237G>A			Q14518|Q66SR7|Q8N6L8	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q92	ENST00000306268.6	37	c.276	CCDS4372.1	5																																																																																			FOXI1	-	NULL		0.706	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	HGNC	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188		169533237	1	no_errors	ENST00000306268	ensembl	human	known	70_37	silent	SNP	1.000	A	A	169533237	G	A	169533237	2	1	45	1	0	0	0	0	0	0	0	1	6027	933	33	1		1	FOXI1	5	169533237	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	35522344	169533237	11382023	56	6181										
GABBR1	2550	genome.wustl.edu	37	chr6	29574685	29574685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cagtggtacctcaatggtccGgtgcagagggtccacgatct	13	11	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:29574685G>A	ENST00000377034.4	-	18	2541	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	GABBR1_ENST00000377012.4_Missense_Mutation_p.R619W|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.R674W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R619W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	736					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCAATGGTCCGGTGCAGAGGG	0.602																																																	0													72	61	65					6																	29574685		1511	2709	4220	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2206C>T	6.37:g.29574685G>A	ENSP00000366233:p.Arg736Trp		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.R736W	ENST00000377034.4	37	c.2206	CCDS4663.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.563901|2.563901	0.45694|0.45694	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	.|D;D;D;D	.|0.88124	.|-2.34;-2.34;-2.34;-2.34	4.35|4.35	4.35|4.35	0.52113|0.52113	.|GPCR, family 3, C-terminal (2);	.|0.179314	.|0.38959	.|N	.|0.001505	D|D	0.91310|0.91310	0.7260|0.7260	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.65987	.|0.926;0.94;0.912	D|D	0.92624|0.92624	0.6110|0.6110	5|10	.|0.87932	.|D	.|0	-9.1207|-9.1207	14.7425|14.7425	0.69467|0.69467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|674;736;619	.|Q9UBS5-3;Q9UBS5;Q5SUJ9	.|.;GABR1_HUMAN;.	L|W	116|619;674;619;736	.|ENSP00000348248:R619W;ENSP00000366215:R674W;ENSP00000366211:R619W;ENSP00000366233:R736W	.|ENSP00000348248:R619W	P|R	-|-	2|1	0|2	GABBR1|GABBR1	29682664|29682664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.234000|0.234000	0.25298|0.25298	3.069000|3.069000	0.50026|0.50026	2.121000|2.121000	0.65114|0.65114	0.563000|0.563000	0.77884|0.77884	CCG|CGG	GABBR1	-	pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C		0.602	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29574685	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	0.998	A	A	29574685	G	A	29574685	3	1	45	1	0	0	0	0	1	0	0	0	6173	1115	39	2	703	2	GABBR1	6	29574685	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		29574685	141540382	57	6182										
ATF6B	1388	genome.wustl.edu	37	chr6	32083725	32083725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctcctcatagtcccccggggCcccacggcctgacagggtct	11	18	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:32083725C>T	ENST00000375203.3	-	18	1935	c.1903G>A	c.(1903-1905)Gcc>Acc	p.A635T	ATF6B_ENST00000375201.4_Missense_Mutation_p.A632T	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	635					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCCCCCGGGGCCCCACGGCCT	0.582																																																	0													39	35	36					6																	32083725		2203	4300	6503	SO:0001583	missense	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1903G>A	6.37:g.32083725C>T	ENSP00000364349:p.Ala635Thr		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.A635T	ENST00000375203.3	37	c.1903	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	c	11.78	1.741429	0.30865	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.53857	0.6;1.34	4.82	-3.58	0.04597	.	1.260340	0.06240	U	0.690223	T	0.07773	0.0195	N	0.04203	-0.255	0.09310	N	1	B;B	0.22683	0.073;0.02	B;B	0.24394	0.053;0.016	T	0.15093	-1.0449	10	0.12430	T	0.62	-1.8056	4.2813	0.10834	0.2247:0.146:0.5141:0.1152	.	632;635	Q99941-2;Q99941	.;ATF6B_HUMAN	T	635;632	ENSP00000364349:A635T;ENSP00000364347:A632T	ENSP00000364347:A632T	A	-	1	0	ATF6B	32191703	0.000000	0.05858	0.001000	0.08648	0.960000	0.62799	-0.919000	0.04017	-0.555000	0.06142	-0.512000	0.04463	GCC	ATF6B	-	NULL		0.582	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	C			32083725	-1	no_errors	ENST00000375203	ensembl	human	known	70_37	missense	SNP	0.003	T	T	32083725	C	T	32083725	3	4	45	1	0	0	0	0	1	0	0	0	1086	739	26	4	212	4	ATF6B	6	32083725	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2509040	32083725	139031342	58	6183										
TAP2	5696	genome.wustl.edu	37	chr6	32805780	32805780	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcgaccagggctctcagggaGacagtcaggggggtggccag	19	10	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:32805780G>A	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Silent_p.V77V|TAP2_ENST00000374899.4_Silent_p.V77V|TAP2_ENST00000452392.2_Silent_p.V77V	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CTCTCAGGGAGACAGTCAGGG	0.692																																					NSCLC(48;53 1172 10859 13624 22883)												0													37	42	40					6																	32805780		1509	2708	4217	SO:0001628	intergenic_variant	6891				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805780G>A			B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.V77	ENST00000374882.3	37	c.231	CCDS4757.1	6																																																																																			TAP2	-	prints_ABC_B3,tigrfam_Ag_transporter2		0.692	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000076617.3	G	NM_148919		32805780	-1	no_errors	ENST00000374897	ensembl	human	known	70_37	silent	SNP	0.997	A	A	32805780	G	A	32805780	1	1	45	0	1	0	0	0	0	0	0	0	15581	929	33	1		1	TAP2	6	32805780	IGR	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	722055	32805780	138309287	59	6184										
DAXX	1616	genome.wustl.edu	37	chr6	33288313	33288313	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agccgactcatggccaaactCcggttttcccgaaggcgccg	11	15	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:33288313C>G	ENST00000374542.5	-	4	1299	c.1095G>C	c.(1093-1095)cgG>cgC	p.R365R	DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Silent_p.R290R|DAXX_ENST00000266000.6_Silent_p.R365R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	365	Interaction with histone H3.3.|Necessary for interaction with USP7.			R -> Q (in Ref. 2; AAB66585). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGGCCAAACTCCGGTTTTCCC	0.532			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													68	66	67					6																	33288313		2203	4300	6503	SO:0001819	synonymous_variant	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1095G>C	6.37:g.33288313C>G			B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	pfam_Daxx	p.R365	ENST00000374542.5	37	c.1095	CCDS4776.1	6																																																																																			DAXX	-	pfam_Daxx		0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	C			33288313	-1	no_errors	ENST00000266000	ensembl	human	known	70_37	silent	SNP	0.120	G	G	33288313	C	G	33288313	2	3	45	1	0	0	0	0	0	0	0	1	4248	842	30	1		1	DAXX	6	33288313	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	482533	33288313	137826754	60	6185										
C6orf222	389384	genome.wustl.edu	37	chr6	36298020	36298020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcggctgggcttcttgtcgtGgtgggctttcttcctgaggg	17	9	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:36298020G>T	ENST00000437635.2	-	2	625	c.448C>A	c.(448-450)Cac>Aac	p.H150N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	150										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTCTTGTCGTGGTGGGCTTTC	0.622																																																	0													82	66	71					6																	36298020		2203	4300	6503	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.448C>A	6.37:g.36298020G>T	ENSP00000418983:p.His150Asn		B2RTY8	Missense_Mutation	SNP	NULL	p.H150N	ENST00000437635.2	37	c.448	CCDS34439.1	6	.	.	.	.	.	.	.	.	.	.	G	1.990	-0.431984	0.04669	.	.	ENSG00000189325	ENST00000437635	T	0.48201	0.82	0.207	0.207	0.15214	.	0.905940	0.09132	N	0.844226	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.12837	0.008	T	0.35400	-0.9790	9	0.07813	T	0.8	-27.0296	.	.	.	.	150	P0C671	CF222_HUMAN	N	150	ENSP00000418983:H150N	ENSP00000418983:H150N	H	-	1	0	C6orf222	36405998	0.301000	0.24444	0.057000	0.19452	0.581000	0.36288	0.329000	0.19698	0.284000	0.22305	0.289000	0.19496	CAC	C6orf222	-	NULL		0.622	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	G	NM_001010903		36298020	-1	no_errors	ENST00000437635	ensembl	human	known	70_37	missense	SNP	0.044	T	T	36298020	G	T	36298020	3	4	45	1	0	0	0	0	1	0	0	0	2361	1348	47	4	1554	4	C6orf222	6	36298020	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	3009707	36298020	134817047	61	6186										
TRERF1	55809	genome.wustl.edu	37	chr6	42235961	42235961	+	Frame_Shift_Del	DEL	G	G	-													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttgttgaggtggatcccactGggggataggagggggcgatg							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:42235961delG	ENST00000372922.4	-	5	1930	c.1368delC	c.(1366-1368)cccfs	p.P456fs	TRERF1_ENST00000541110.1_Frame_Shift_Del_p.P456fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.P456fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.P456fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.P456fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	456	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGATCCCACTGGGGGATAGGA	0.607																																																	0													50	54	53					6																	42235961		2203	4300	6503	SO:0001589	frameshift_variant	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1368delC	6.37:g.42235961delG	ENSP00000362013:p.Pro456fs		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S457fs	ENST00000372922.4	37	c.1368	CCDS4867.1	6																																																																																			TRERF1	-	NULL		0.607	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	G	NM_033502		42235961	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	frame_shift_del	DEL	0.206	-	-	42235961	G	-	42235961	7	5	45	1	0	1	0	1	0	0	0	0	16506	1335	47	0	2290	0	TRERF1	6	42235961	Frame_Shift_Del	DEL	G	TCGA-C5-A7CL-01A-11D-A32I-09	5937941	42235961	128879106	62	6187										
TNFRSF21	27242	genome.wustl.edu	37	chr6	47200714	47200714	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tccaggcgtacctgccgcaaCactgtgtccttcttttctgc	8	15	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:47200714C>A	ENST00000296861.2	-	6	2148	c.1755G>T	c.(1753-1755)gtG>gtT	p.V585V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	585					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCTGCCGCAACACTGTGTCCT	0.522																																																	0													65	64	65					6																	47200714		2203	4300	6503	SO:0001819	synonymous_variant	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1755G>T	6.37:g.47200714C>A			B2RDI9|Q0D2P5|Q96D86	Silent	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.V585	ENST00000296861.2	37	c.1755	CCDS4921.1	6																																																																																			TNFRSF21	-	superfamily_DEATH-like		0.522	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	C	NM_014452		47200714	-1	no_errors	ENST00000296861	ensembl	human	known	70_37	silent	SNP	0.995	A	A	47200714	C	A	47200714	2	1	45	1	0	0	0	0	0	0	0	1	16325	465	17	4		4	TNFRSF21	6	47200714	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	4964753	47200714	123914353	63	6188										
DST	667	genome.wustl.edu	37	chr6	56437583	56437583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttcagtaacatcttttcctgGcacatctacttcagtaagag	6	10	4	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:56437583G>T	ENST00000361203.3	-	48	12890	c.12883C>A	c.(12883-12885)Cca>Aca	p.P4295T	DST_ENST00000421834.2_Missense_Mutation_p.P2209T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.P4475T|DST_ENST00000370769.4_Missense_Mutation_p.P4297T|DST_ENST00000370788.2_Missense_Mutation_p.P2209T|DST_ENST00000244364.6_Missense_Mutation_p.P1883T|DST_ENST00000446842.2_Missense_Mutation_p.P3971T			Q03001	DYST_HUMAN	dystonin	4295					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTTCCTGGCACATCTACT	0.393																																																	0													71	68	69					6																	56437583		1835	4089	5924	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12883C>A	6.37:g.56437583G>T	ENSP00000354508:p.Pro4295Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.P4475T	ENST00000361203.3	37	c.13423		6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354310	0.61293	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65916	1.08;-0.1;-0.15;0.03;0.83;-0.01;-0.18	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000072	T	0.74076	0.3669	M	0.75264	2.295	0.28093	N	0.931715	D;D;D;D;P	0.89917	1.0;0.999;1.0;0.999;0.855	D;D;D;P;P	0.83275	0.996;0.985;0.995;0.895;0.544	T	0.66052	-0.6019	9	0.17369	T	0.5	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	2209;4297;4475;4295;1883	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	1883;4475;4297;2209;3971;2209;4295	ENSP00000244364:P1883T;ENSP00000359790:P4475T;ENSP00000359805:P4297T;ENSP00000400883:P2209T;ENSP00000393645:P3971T;ENSP00000359824:P2209T;ENSP00000354508:P4295T	ENSP00000244364:P1883T	P	-	1	0	DST	56545542	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.263000	0.78421	2.840000	0.97914	0.655000	0.94253	CCA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56437583	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56437583	G	T	56437583	3	4	45	1	0	0	0	0	1	0	0	0	4793	1203	42	4	10076	4	DST	6	56437583	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	9236869	56437583	114677484	64	6189										
DDX43	55510	genome.wustl.edu	37	chr6	74121973	74121973	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cgcctcgcacaatcttatttGaaagaaccaatgattgtcta	6	10	2	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:74121973G>C	ENST00000370336.4	+	11	1484	c.1326G>C	c.(1324-1326)ttG>ttC	p.L442F	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	442	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATCTTATTTGAAAGAACCAA	0.308																																																	0													193	175	181					6																	74121973		2203	4300	6503	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1326G>C	6.37:g.74121973G>C	ENSP00000359361:p.Leu442Phe		B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L442F	ENST00000370336.4	37	c.1326	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517892	0.44763	.	.	ENSG00000080007	ENST00000370336	T	0.06142	3.34	5.22	2.45	0.29901	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.00834	-1.1547	10	0.87932	D	0	-22.8609	8.3171	0.32106	0.3892:0.0:0.6108:0.0	.	442	Q9NXZ2	DDX43_HUMAN	F	442	ENSP00000359361:L442F	ENSP00000359361:L442F	L	+	3	2	DDX43	74178694	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	0.843000	0.27640	0.292000	0.22492	0.561000	0.74099	TTG	DDX43	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.308	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	G	NM_018665		74121973	1	no_errors	ENST00000370336	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74121973	G	C	74121973	3	2	45	1	0	0	0	0	1	0	0	0	4368	1281	45	1	1368	1	DDX43	6	74121973	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	17684390	74121973	96993094	65	6190										
THBS2	7058	genome.wustl.edu	37	chr6	169640669	169640669	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gccaccaatgagctcccagaGaaactggttatcattcgact	8	12	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:169640669G>A	ENST00000366787.3	-	7	1159	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	304					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCTCCCAGAGAAACTGGTTA	0.428																																					Esophageal Squamous(91;219 1934 18562 44706)												0													83	80	81					6																	169640669		2203	4300	6503	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.910C>T	6.37:g.169640669G>A	ENSP00000355751:p.Leu304Phe		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.L304F	ENST00000366787.3	37	c.910	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118279	0.56505	.	.	ENSG00000186340	ENST00000366787	D	0.82984	-1.67	5.29	5.29	0.74685	.	0.260360	0.20820	U	0.085100	T	0.74419	0.3714	M	0.68593	2.085	0.31287	N	0.689885	P	0.52842	0.956	P	0.47044	0.535	T	0.78244	-0.2279	10	0.72032	D	0.01	-48.3136	4.6196	0.12444	0.0816:0.1411:0.6107:0.1666	.	304	P35442	TSP2_HUMAN	F	304	ENSP00000355751:L304F	ENSP00000355751:L304F	L	-	1	0	THBS2	169382594	0.996000	0.38824	0.976000	0.42696	0.961000	0.63080	2.521000	0.45563	2.469000	0.83416	0.561000	0.74099	CTC	THBS2	-	NULL		0.428	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	G	NM_003247		169640669	-1	no_errors	ENST00000366787	ensembl	human	known	70_37	missense	SNP	0.955	A	A	169640669	G	A	169640669	3	1	45	1	0	0	0	0	1	0	0	0	15884	942	33	1	2676	1	THBS2	6	169640669	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	95518696	169640669	1474398	66	6191										
THBS2	7058	genome.wustl.edu	37	chr6	169648967	169648967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cacgaagcggtaagccggcaCgccggggtcgggcccgcgga	18	14	0	0	rs148267594	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:169648967C>G	ENST00000366787.3	-	4	403	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	52	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TAAGCCGGCACGCCGGGGTCG	0.577																																					Esophageal Squamous(91;219 1934 18562 44706)												0													101	84	90					6																	169648967		2203	4300	6503	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.154G>C	6.37:g.169648967C>G	ENSP00000355751:p.Val52Leu		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.V52L	ENST00000366787.3	37	c.154	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417233	0.11870	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02032	4.49;4.49	4.42	-0.204	0.13200	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.644575	0.12021	U	0.506979	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	B	0.18741	0.03	B	0.15484	0.013	T	0.45745	-0.9240	10	0.27082	T	0.32	-11.6365	3.3864	0.07273	0.2928:0.3539:0.0:0.3532	.	52	P35442	TSP2_HUMAN	L	52	ENSP00000355751:V52L;ENSP00000398928:V52L	ENSP00000355751:V52L	V	-	1	0	THBS2	169390892	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-1.121000	0.03270	0.083000	0.17047	-0.369000	0.07265	GTG	THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.577	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	C	NM_003247		169648967	-1	no_errors	ENST00000366787	ensembl	human	known	70_37	missense	SNP	0.000	G	G	169648967	C	G	169648967	3	3	45	1	0	0	0	0	1	0	0	0	15884	536	19	2	3444	2	THBS2	6	169648967	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	8298	169648967	1466100	67	6192										
USP42	84132	genome.wustl.edu	37	chr7	6189273	6189273	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acgccaagcagttccatgtcGagtcctaacgggaattccag	10	12	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:6189273G>A	ENST00000306177.5	+	13	1604	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	482					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTTCCATGTCGAGTCCTAACG	0.493																																																	0													131	125	127					7																	6189273		1963	4141	6104	SO:0001819	synonymous_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1446G>A	7.37:g.6189273G>A			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S482	ENST00000306177.5	37	c.1446	CCDS47535.1	7																																																																																			USP42	-	NULL		0.493	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	G	XM_166526		6189273	1	no_errors	ENST00000306177	ensembl	human	known	70_37	silent	SNP	0.216	A	A	6189273	G	A	6189273	2	1	45	1	0	0	0	0	0	0	0	1	17104	1045	37	1		1	USP42	7	6189273	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		6189273	152949390	68	6193										
CHN2	1124	genome.wustl.edu	37	chr7	29438048	29438048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcttggaggcgtggagggtgCctacatccttagagaaagcc	14	9	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:29438048C>T	ENST00000222792.6	+	5	766	c.236C>T	c.(235-237)gCc>gTc	p.A79V	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.A64V|CHN2_ENST00000495789.2_Missense_Mutation_p.A92V|CHN2_ENST00000539406.1_Missense_Mutation_p.A154V|CHN2_ENST00000435288.2_Missense_Mutation_p.A79V	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGGAGGGTGCCTACATCCTT	0.517																																					Ovarian(1;44 48 13232 18918 31480)												0													154	128	137					7																	29438048		2203	4300	6503	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.236C>T	7.37:g.29438048C>T	ENSP00000222792:p.Ala79Val		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.A154V	ENST00000222792.6	37	c.461	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921819	0.92319	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.44	5.44	0.79542	SH2 motif (4);	0.107173	0.64402	D	0.000005	D	0.92407	0.7590	L	0.48935	1.535	0.80722	D	1	P;D;D;D;D	0.69078	0.775;0.972;0.997;0.972;0.972	P;P;D;P;P	0.66196	0.601;0.767;0.942;0.685;0.767	D	0.92960	0.6388	10	0.72032	D	0.01	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	64;92;154;79;79	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	V	154;154;79;79;92;92;64	ENSP00000409843:A154V;ENSP00000444063:A154V;ENSP00000222792:A79V;ENSP00000400282:A79V;ENSP00000386968:A92V;ENSP00000438587:A92V;ENSP00000442812:A64V	ENSP00000222792:A79V	A	+	2	0	CHN2	29404573	1.000000	0.71417	0.997000	0.53966	0.867000	0.49689	7.249000	0.78278	2.553000	0.86117	0.467000	0.42956	GCC	CHN2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.517	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	C	NM_004067		29438048	1	no_errors	ENST00000539406	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29438048	C	T	29438048	3	4	45	1	0	0	0	0	1	0	0	0	3368	739	26	4	254	4	CHN2	7	29438048	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	23248775	29438048	129700615	69	6194										
COBL	23242	genome.wustl.edu	37	chr7	51258767	51258768	+	Frame_Shift_Del	DEL	CA	CA	-													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aggtaattcacgaccaaacgCacagatttctggaagaacac							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:51258767_51258768delCA	ENST00000265136.7	-	4	629_630	c.464_465delTG	c.(463-465)gtgfs	p.V155fs	COBL_ENST00000395542.2_Frame_Shift_Del_p.V155fs|COBL_ENST00000395540.2_Frame_Shift_Del_p.V155fs|COBL_ENST00000441453.1_Frame_Shift_Del_p.V155fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	155					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGACCAAACGCACAGATTTCTG	0.455																																					NSCLC(189;2119 2138 12223 30818 34679)												0																																										SO:0001589	frameshift_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.464_465delTG	7.37:g.51258769_51258770delCA	ENSP00000265136:p.Val155fs		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Del	DEL	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.V155fs	ENST00000265136.7	37	c.465_464	CCDS34637.1	7																																																																																			COBL	-	pfam_Cordon-bleu_domain		0.455	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	CA	NM_015198		51258768	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	51258768	CA	-	51258767	7	5	45	1	0	1	0	1	0	0	0	0	3658	697	25	0	3360	0	COBL	7	51258767	Frame_Shift_Del	DEL	CA	TCGA-C5-A7CL-01A-11D-A32I-09	21820719	51258767	107879896	70	6195										
HIP1	3092	genome.wustl.edu	37	chr7	75192305	75192305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggctcgctgtcgggggatgaGgcctctgcagggatcaccac	16	12	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:75192305G>A	ENST00000336926.6	-	11	980	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HIP1_ENST00000434438.2_Silent_p.A318A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	318					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGGGGGATGAGGCCTCTGCAG	0.562			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													71	66	68					7																	75192305		2203	4300	6503	SO:0001819	synonymous_variant	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.954C>T	7.37:g.75192305G>A			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.A318	ENST00000336926.6	37	c.954	CCDS34669.1	7																																																																																			HIP1	-	NULL		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75192305	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	silent	SNP	0.885	A	A	75192305	G	A	75192305	2	1	45	1	0	0	0	0	0	0	0	1	7134	987	35	4		4	HIP1	7	75192305	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	23933538	75192305	83946358	71	6196										
NUP205	23165	genome.wustl.edu	37	chr7	135327944	135327944	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcatcacctctattagatacCcaagctccagtggttccata	5	13	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:135327944C>A	ENST00000285968.6	+	39	5423	c.5397C>A	c.(5395-5397)acC>acA	p.T1799T		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1799					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTAGATACCCAAGCTCCAG	0.393																																																	0													126	115	119					7																	135327944		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5397C>A	7.37:g.135327944C>A			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.T1799	ENST00000285968.6	37	c.5397	CCDS34759.1	7																																																																																			NUP205	-	NULL		0.393	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	C			135327944	1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	1.000	A	A	135327944	C	A	135327944	2	1	45	1	0	0	0	0	0	0	0	1	10783	610	22	4		4	NUP205	7	135327944	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	60135639	135327944	23810719	72	6197										
KIAA1549	57670	genome.wustl.edu	37	chr7	138588413	138588413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aaacctcgctgagcagctggGccagcttgcgttccatctcg	11	14	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:138588413G>A	ENST00000422774.1	-	8	3638	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1197V|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1147V			Q9HCM3	K1549_HUMAN	KIAA1549	1197						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCAGCTGGGCCAGCTTGCG	0.532			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													57	60	59					7																	138588413		2030	4179	6209	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3590C>T	7.37:g.138588413G>A	ENSP00000416040:p.Ala1197Val		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.A1197V	ENST00000422774.1	37	c.3590	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621974	0.87460	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69685	-0.41;-0.39;-0.42	4.61	3.72	0.42706	.	0.054956	0.64402	D	0.000001	T	0.80839	0.4700	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	D	0.83560	0.0106	10	0.87932	D	0	.	13.7992	0.63190	0.0:0.1546:0.8454:0.0	.	1197;1197	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	V	1197;1147;1197	ENSP00000406661:A1197V;ENSP00000242365:A1147V;ENSP00000416040:A1197V	ENSP00000242365:A1147V	A	-	2	0	KIAA1549	138238953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.705000	0.91357	1.140000	0.42260	0.591000	0.81541	GCC	KIAA1549	-	NULL		0.532	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	G			138588413	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138588413	G	A	138588413	3	1	45	1	0	0	0	0	1	0	0	0	8264	1203	42	4	2314	4	KIAA1549	7	138588413	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	3260469	138588413	20550250	73	6198										
MTUS1	57509	genome.wustl.edu	37	chr8	17612715	17612715	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aagtggaataggataaagaaGatgtacttccacttctccta	8	7	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:17612715G>C	ENST00000262102.6	-	2	826	c.602C>G	c.(601-603)tCt>tGt	p.S201C	MTUS1_ENST00000381869.3_Missense_Mutation_p.S201C|MTUS1_ENST00000381862.3_Missense_Mutation_p.S201C|MTUS1_ENST00000519263.1_Missense_Mutation_p.S201C	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	201					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATAAAGAAGATGTACTTCC	0.428																																																	0													148	132	137					8																	17612715		1953	4137	6090	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.602C>G	8.37:g.17612715G>C	ENSP00000262102:p.Ser201Cys		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin/RNR-like	p.S201C	ENST00000262102.6	37	c.602	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159400	0.38119	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.20200	3.11;3.09;3.11;2.09	4.05	4.05	0.47172	.	1.796670	0.03495	N	0.217189	T	0.34164	0.0888	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.66979	0.948;0.847;0.847	T	0.36089	-0.9762	9	.	.	.	-2.3921	9.8316	0.40946	0.0986:0.0:0.9014:0.0	.	201;201;201	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	C	201	ENSP00000371293:S201C;ENSP00000262102:S201C;ENSP00000430167:S201C;ENSP00000371286:S201C	.	S	-	2	0	MTUS1	17656995	0.003000	0.15002	0.014000	0.15608	0.327000	0.28475	0.916000	0.28651	2.542000	0.85734	0.563000	0.77884	TCT	MTUS1	-	NULL		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	G	XM_372031		17612715	-1	no_errors	ENST00000262102	ensembl	human	known	70_37	missense	SNP	0.004	C	C	17612715	G	C	17612715	3	2	45	1	0	0	0	0	1	0	0	0	9988	942	33	1	3585	1	MTUS1	8	17612715	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		17612715	128751307	74	6199										
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37734763	37734763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgggaaagaggcgtcttctgCaaatttgacttggaaagtaa	12	5	2	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:37734763C>A	ENST00000330843.4	-	2	690	c.678G>T	c.(676-678)ttG>ttT	p.L226F	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.L78F|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L226F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L78F	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	226					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTCTTCTGCAAATTTGACT	0.473																																																	0													233	213	220					8																	37734763		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.678G>T	8.37:g.37734763C>A	ENSP00000331342:p.Leu226Phe		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L226F	ENST00000330843.4	37	c.678	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864571	0.51482	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.60797	1.12;1.53;0.3;0.16	5.63	4.74	0.60224	.	0.000000	0.49916	D	0.000127	T	0.75213	0.3819	M	0.82630	2.6	0.50039	D	0.999847	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.984;0.995;0.993;0.992	T	0.77827	-0.2443	10	0.66056	D	0.02	-12.3291	11.0211	0.47718	0.0:0.8576:0.0:0.1424	.	78;78;226;226	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	F	226;226;78;78	ENSP00000287263:L226F;ENSP00000331342:L226F;ENSP00000430009:L78F;ENSP00000430680:L78F	ENSP00000287263:L226F	L	-	3	2	RAB11FIP1	37853921	1.000000	0.71417	0.996000	0.52242	0.052000	0.14988	3.333000	0.52090	2.644000	0.89710	0.655000	0.94253	TTG	RAB11FIP1	-	NULL		0.473	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37734763	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37734763	C	A	37734763	3	1	45	1	0	0	0	0	1	0	0	0	12923	709	25	4	3193	4	RAB11FIP1	8	37734763	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	20122048	37734763	108629259	75	6200										
ZFP41	286128	genome.wustl.edu	37	chr8	144332125	144332125	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccggggacagaaagccacctGagaggcccactgtgcccagg	14	14	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:144332125G>C	ENST00000330701.4	+	2	481	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ZFP41_ENST00000522452.1_Missense_Mutation_p.E38Q|ZFP41_ENST00000520584.1_Missense_Mutation_p.E38Q	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	38					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAAGCCACCTGAGAGGCCCAC	0.577																																																	0													40	47	44					8																	144332125		2203	4300	6503	SO:0001583	missense	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.112G>C	8.37:g.144332125G>C	ENSP00000327427:p.Glu38Gln		D3DWJ5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E38Q	ENST00000330701.4	37	c.112	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155336	0.21454	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.06528	3.29;3.29;3.29	3.09	-6.1	0.02138	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43261	-0.9402	9	0.44086	T	0.13	-3.969	3.6406	0.08165	0.2194:0.128:0.5372:0.1154	.	38	Q8N8Y5	ZFP41_HUMAN	Q	38	ENSP00000430465:E38Q;ENSP00000327427:E38Q;ENSP00000428966:E38Q	ENSP00000327427:E38Q	E	+	1	0	ZFP41	144403500	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.348000	0.02629	-1.720000	0.01380	-0.229000	0.12294	GAG	ZFP41	-	NULL		0.577	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	HGNC	protein_coding	OTTHUMT00000381114.2	G	NM_173832		144332125	1	no_errors	ENST00000330701	ensembl	human	known	70_37	missense	SNP	0.000	C	C	144332125	G	C	144332125	3	2	45	1	0	0	0	0	1	0	0	0	17679	1291	45	1	114	1	ZFP41	8	144332125	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	106597362	144332125	2031897	76	6201										
PUF60	22827	genome.wustl.edu	37	chr8	144904017	144904017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggcctcctgctgctcgggcgTcaggggaggcagccccagct	16	15	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:144904017T>C	ENST00000526683.1	-	3	733	c.178A>G	c.(178-180)Acg>Gcg	p.T60A	PUF60_ENST00000453551.2_Missense_Mutation_p.T17A|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Missense_Mutation_p.T17A|PUF60_ENST00000527197.1_Missense_Mutation_p.T31A|PUF60_ENST00000456095.2_Missense_Mutation_p.T31A|PUF60_ENST00000349157.6_Missense_Mutation_p.T60A	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	60	Inhibits homodimerization.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCTCGGGCGTCAGGGGAGGC	0.657																																																	0													29	35	33					8																	144904017		2057	4173	6230	SO:0001583	missense	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.178A>G	8.37:g.144904017T>C	ENSP00000434359:p.Thr60Ala		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.T60A	ENST00000526683.1	37	c.178	CCDS47934.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.166958|4.166958	0.78339|0.78339	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162|ENST00000527744	T;T;T;T;T;T;T;T;T;T|.	0.19250|.	2.63;2.64;2.58;2.64;2.44;2.57;2.6;3.4;3.29;2.16|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69088|.	0.3072|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;B|.	0.45428|.	0.594;0.858;0.27|.	B;P;B|.	0.45712|.	0.341;0.491;0.184|.	T|.	0.68116|.	-0.5494|.	10|.	0.29301|.	T|.	0.29|.	.|.	14.1021|14.1021	0.65062|0.65062	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	31;60;60|.	Q9UHX1-5;Q9UHX1-2;Q9UHX1|.	.;.;PUF60_HUMAN|.	A|W	60;17;17;31;60;31;59;97;97;97|57	ENSP00000434359:T60A;ENSP00000402953:T17A;ENSP00000322016:T17A;ENSP00000395417:T31A;ENSP00000322036:T60A;ENSP00000431960:T31A;ENSP00000432610:T59A;ENSP00000434863:T97A;ENSP00000437309:T97A;ENSP00000433403:T97A|.	ENSP00000322016:T17A|.	T|X	-|-	1|3	0|0	PUF60|PUF60	144976005|144976005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.448000|3.448000	0.52943|0.52943	1.927000|1.927000	0.55829|0.55829	0.460000|0.460000	0.39030|0.39030	ACG|TGA	PUF60	-	tigrfam_PolyU-bd		0.657	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	T	NM_014281		144904017	-1	no_errors	ENST00000526683	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144904017	T	C	144904017	3	2	45	1	0	0	0	0	1	0	0	0	12854	1667	58	5	1541	5	PUF60	8	144904017	Missense_Mutation	SNP	T	TCGA-C5-A7CL-01A-11D-A32I-09	571892	144904017	1460005	77	6202										
IFNA8	3445	genome.wustl.edu	37	chr9	21409239	21409239	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gctacaagtcattcagctctCtgggctgtgatctgcctcag	10	12	5	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:21409239C>T	ENST00000380205.1	+	1	94	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	22					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATTCAGCTCTCTGGGCTGTGA	0.507																																																	0													144	138	140					9																	21409239		2203	4300	6503	SO:0001819	synonymous_variant	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.64C>T	9.37:g.21409239C>T			P01565|P09236|Q5VWV7|Q5VYQ3	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L22	ENST00000380205.1	37	c.64	CCDS6507.1	9																																																																																			IFNA8	-	pfam_Interferon_alpha/beta/delta		0.507	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	HGNC	protein_coding	OTTHUMT00000051906.1	C	NM_002170		21409239	1	no_errors	ENST00000380205	ensembl	human	known	70_37	silent	SNP	0.999	T	T	21409239	C	T	21409239	2	4	45	1	0	0	0	0	0	0	0	1	7563	912	32	1		1	IFNA8	9	21409239	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		21409239	119804192	78	6203										
UBQLN1	29979	genome.wustl.edu	37	chr9	86276830	86276830	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gagttgttccagttgttgctGaaatctgacttctggattct	10	7	3	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:86276830G>C	ENST00000376395.4	-	11	2165	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q520E	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	548	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTTGTTGCTGAAATCTGACT	0.368																																					Melanoma(186;1284 2073 12755 14558 18426)												0													136	131	133					9																	86276830		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1642C>G	9.37:g.86276830G>C	ENSP00000365576:p.Gln548Glu		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q548E	ENST00000376395.4	37	c.1642	CCDS6663.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.969521|4.969521	0.92855|0.92855	.|.	.|.	ENSG00000135018|ENSG00000135018	ENST00000526134|ENST00000376395;ENST00000257468	T|T;T	0.77358|0.16196	-1.09|2.36;2.36	5.19|5.19	5.19|5.19	0.71726|0.71726	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.35480|0.35480	0.0933|0.0933	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999998|0.999998	.|B;D	.|0.62365	.|0.307;0.991	.|B;D	.|0.78314	.|0.316;0.991	T|T	0.02610|0.02610	-1.1134|-1.1134	7|10	0.87932|0.13853	D|T	0|0.58	.|.	19.1663|19.1663	0.93559|0.93559	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520;548	.|Q9UMX0-2;Q9UMX0	.|.;UBQL1_HUMAN	L|E	154|548;520	ENSP00000436912:F154L|ENSP00000365576:Q548E;ENSP00000257468:Q520E	ENSP00000436912:F154L|ENSP00000257468:Q520E	F|Q	-|-	3|1	2|0	UBQLN1|UBQLN1	85466650|85466650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.399000|9.399000	0.97285|0.97285	2.596000|2.596000	0.87737|0.87737	0.579000|0.579000	0.79373|0.79373	TTC|CAG	UBQLN1	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.368	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86276830	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86276830	G	C	86276830	3	2	45	1	0	0	0	0	1	0	0	0	16927	1299	45	1	131	1	UBQLN1	9	86276830	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	64867591	86276830	54936601	79	6204										
AUH	549	genome.wustl.edu	37	chr9	94123919	94123919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcgcacctcacctcggttctCctcctccaggtgccgcaccc	7	21	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:94123919C>T	ENST00000375731.4	-	1	276	c.253G>A	c.(253-255)Gag>Aag	p.E85K	AUH_ENST00000478465.1_5'UTR|AUH_ENST00000303617.5_Missense_Mutation_p.E85K|AUH_ENST00000422391.2_Missense_Mutation_p.E85K	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	85					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTCGGTTCTCCTCCTCCAGG	0.721																																																	0													13	10	11					9																	94123919		2181	4260	6441	SO:0001583	missense	549			X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"AU RNA-binding protein/enoyl-Coenzyme A hydratase", "AU RNA binding protein/enoyl-Coenzyme A hydratase"			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.253G>A	9.37:g.94123919C>T	ENSP00000364883:p.Glu85Lys		B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	pfam_Crotonase_core	p.E85K	ENST00000375731.4	37	c.253	CCDS6689.1	9	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048040	0.55110	.	.	ENSG00000148090	ENST00000375731;ENST00000303617;ENST00000422391	T;T;T	0.66995	-0.24;-0.24;-0.24	4.0	4.0	0.46444	.	0.341865	0.28209	U	0.016196	T	0.41880	0.1178	N	0.05230	-0.09	0.43246	D	0.995163	B;B;B	0.19817	0.039;0.01;0.007	B;B;B	0.23150	0.044;0.008;0.006	T	0.32798	-0.9893	10	0.08599	T	0.76	.	12.943	0.58357	0.0:1.0:0.0:0.0	.	85;85;85	B4DYI6;Q13825-2;Q13825	.;.;AUHM_HUMAN	K	85	ENSP00000364883:E85K;ENSP00000307334:E85K;ENSP00000402026:E85K	ENSP00000307334:E85K	E	-	1	0	AUH	93163740	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.220000	0.51207	2.054000	0.61138	0.448000	0.29417	GAG	AUH	-	NULL		0.721	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUH	HGNC	protein_coding	OTTHUMT00000053032.1	C			94123919	-1	no_errors	ENST00000375731	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94123919	C	T	94123919	3	4	45	1	0	0	0	0	1	0	0	0	1220	864	30	1	806	1	AUH	9	94123919	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	7847089	94123919	47089512	80	6205										
COL27A1	85301	genome.wustl.edu	37	chr9	116930553	116930553	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggaagcagtgtggacaggctGacacgtaccagtccccactg	13	12	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:116930553G>A	ENST00000356083.3	+	3	1109	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	240					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGACAGGCTGACACGTACCA	0.557																																																	0													91	84	86					9																	116930553		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.718G>A	9.37:g.116930553G>A	ENSP00000348385:p.Asp240Asn		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.D240N	ENST00000356083.3	37	c.718	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165958	0.21538	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.93659	-2.84;-3.26	4.84	4.84	0.62591	.	.	.	.	.	D	0.95872	0.8656	M	0.71036	2.16	0.58432	D	0.999993	D;D	0.89917	1.0;0.976	D;P	0.80764	0.994;0.554	D	0.94885	0.8042	9	0.31617	T	0.26	.	15.4568	0.75321	0.0:0.0:1.0:0.0	.	240;187	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	N	240;240;187;187	ENSP00000348385:D240N;ENSP00000391328:D187N	ENSP00000348385:D240N	D	+	1	0	COL27A1	115970374	1.000000	0.71417	0.394000	0.26270	0.107000	0.19398	5.686000	0.68211	2.217000	0.71921	0.555000	0.69702	GAC	COL27A1	-	NULL		0.557	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	G	NM_032888		116930553	1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	0.998	A	A	116930553	G	A	116930553	3	1	45	1	0	0	0	0	1	0	0	0	3690	1290	45	1	728	1	COL27A1	9	116930553	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	22806634	116930553	24282878	81	6206										
KCNT1	57582	genome.wustl.edu	37	chr9	138660689	138660689	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cgccaggaccaccagaccatCctgcgcgcctgggccgtgaa	12	17	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:138660689C>T	ENST00000263604.3	+	15	1359	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	KCNT1_ENST00000487664.1_Silent_p.I427I|KCNT1_ENST00000298480.5_Silent_p.I472I|KCNT1_ENST00000371757.2_Silent_p.I472I|KCNT1_ENST00000488444.2_Silent_p.I453I|KCNT1_ENST00000486577.2_Silent_p.I433I|KCNT1_ENST00000490355.2_Silent_p.I453I|KCNT1_ENST00000491806.2_Silent_p.I439I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	453					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCAGACCATCCTGCGCGCCT	0.642																																																	0													81	69	73					9																	138660689		2202	4300	6502	SO:0001819	synonymous_variant	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1359C>T	9.37:g.138660689C>T			B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.I472	ENST00000263604.3	37	c.1416		9																																																																																			KCNT1	-	NULL		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		C	NM_020822		138660689	1	no_errors	ENST00000298480	ensembl	human	known	70_37	silent	SNP	1.000	T	T	138660689	C	T	138660689	2	4	45	1	0	0	0	0	0	0	0	1	8111	845	30	1		1	KCNT1	9	138660689	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	21730136	138660689	2552742	82	6207										
C9orf140	89958	genome.wustl.edu	37	chr9	139960103	139960105	+	In_Frame_Del	DEL	CTC	CTC	-													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acctccttctcctgctccagCtccttcatctgcttcagctg							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:139960103_139960105delCTC	ENST00000409687.3	-	3	827_829	c.700_702delGAG	c.(700-702)gagdel	p.E234del	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	234						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											CCTGCTCCAGCTCCTTCATCTGC	0.611																																																	0																																										SO:0001651	inframe_deletion	89958			BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"chromosome 9 open reading frame 140"	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.700_702delGAG	9.37:g.139960103_139960105delCTC	ENSP00000386348:p.Glu234del			In_Frame_Del	DEL	pfam_APC_dom	p.E234in_frame_del	ENST00000409687.3	37	c.702_700	CCDS7027.2	9																																																																																			SAPCD2	-	pfam_APC_dom		0.611	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAPCD2	HGNC	protein_coding	OTTHUMT00000055215.2	CTC	NM_178448		139960105	-1	no_errors	ENST00000409687	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	139960105	CTC	-	139960103	7	5	45	1	0	1	0	1	0	0	0	0	2465	796	28	0	498	0	C9orf140	9	139960103	In_Frame_Del	DEL	CTC	TCGA-C5-A7CL-01A-11D-A32I-09	1299414	139960103	1253328	83	6208										
FRMD4A	55691	genome.wustl.edu	37	chr10	13743412	13743412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cagatggacttgatcaatgcCggacatgcataccacgtgtg	11	10	1	2	rs200042373		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:13743412C>T	ENST00000357447.2	-	14	1271	c.903G>A	c.(901-903)ccG>ccA	p.P301P	FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.P301P|FRMD4A_ENST00000342409.2_Silent_p.P317P|FRMD4A_ENST00000358621.4_Silent_p.P286P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	301	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGATCAATGCCGGACATGCAT	0.527																																																	0													236	185	202					10																	13743412		2203	4300	6503	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.903G>A	10.37:g.13743412C>T			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P301	ENST00000357447.2	37	c.903	CCDS7101.1	10																																																																																			FRMD4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.527	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	C	NM_018027		13743412	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	silent	SNP	0.468	T	T	13743412	C	T	13743412	2	4	45	1	0	0	0	0	0	0	0	1	6069	639	23	2		2	FRMD4A	10	13743412	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		13743412	121791335	84	6209										
PTCHD3	374308	genome.wustl.edu	37	chr10	27702727	27702727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tacaggaagccggtgcccagCgcggctgtcagcatcaaggg	15	12	2	0	rs141109338		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:27702727C>T	ENST00000438700.3	-	1	570	c.453G>A	c.(451-453)gcG>gcA	p.A151A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	151					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGTGCCCAGCGCGGCTGTCA	0.677																																																	0								C		0,4406		0,0,2203	60	69	66		453	-2	0	10	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		151/768	27702727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.453G>A	10.37:g.27702727C>T			I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.A151	ENST00000438700.3	37	c.453	CCDS31173.1	10																																																																																			PTCHD3	-	NULL		0.677	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	C	XM_370541		27702727	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	silent	SNP	0.007	T	T	27702727	C	T	27702727	2	4	45	1	0	0	0	0	0	0	0	1	12761	755	27	2		2	PTCHD3	10	27702727	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	13959315	27702727	107832020	85	6210										
PTEN	5728	genome.wustl.edu	37	chr10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gaagatatattcctccaattCaggacccacacgacgggaag	9	11	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:89717661C>G	ENST00000371953.3	+	7	2043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(6)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											149	129	136					10																	89717661		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.686C>G	10.37:g.89717661C>G	ENSP00000361021:p.Ser229*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S229*	ENST00000371953.3	37	c.686	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.460257	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.48	5.48	0.80851	.	0.183008	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.118	19.3305	0.94285	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	.	S	+	2	0	PTEN	89707641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.724000	0.68500	2.571000	0.86741	0.585000	0.79938	TCA	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89717661	1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	89717661	C	G	89717661	4	3	45	1	0	0	0	0	0	1	0	0	12765	838	29	1	712	1	PTEN	10	89717661	Nonsense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	62014934	89717661	45817086	86	6211										
KIF20B	9585	genome.wustl.edu	37	chr10	91479209	91479209	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acactttaaattcctctcaaGagaaattatttggacctgtc	5	9	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:91479209G>T	ENST00000371728.3	+	13	1533	c.1468G>T	c.(1468-1470)Gag>Tag	p.E490*	KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E490*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E490*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E490*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	490			E -> D (in dbSNP:rs17484219). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334}.		ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTCCTCTCAAGAGAAATTATT	0.313																																																	0													37	41	39					10																	91479209		2170	4288	6458	SO:0001587	stop_gained	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1468G>T	10.37:g.91479209G>T	ENSP00000360793:p.Glu490*		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E490*	ENST00000371728.3	37	c.1468		10	.	.	.	.	.	.	.	.	.	.	G	37	6.291813	0.97449	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.63	5.63	0.86233	.	0.121554	0.36972	N	0.002315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-7.719	12.9476	0.58382	0.074:0.0:0.926:0.0	.	.	.	.	X	490	.	ENSP00000260753:E490X	E	+	1	0	KIF20B	91469189	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.626000	0.54245	2.647000	0.89833	0.460000	0.39030	GAG	KIF20B	-	NULL		0.313	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91479209	1	no_errors	ENST00000416354	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	91479209	G	T	91479209	4	4	45	1	0	0	0	0	0	1	0	0	8307	943	33	3	1514	3	KIF20B	10	91479209	Nonsense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	1761548	91479209	44055538	87	6212										
HIF1AN	55662	genome.wustl.edu	37	chr10	102295784	102295784	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cgggaggaggctggagccctCggccccgcctgggatgaatc	17	13	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:102295784C>G	ENST00000299163.6	+	1	169	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	23	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTGGAGCCCTCGGCCCCGCCT	0.692											OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7	9	9					10																	102295784		2176	4250	6426	SO:0001819	synonymous_variant	55662			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"Peptide-aspartate beta-dioxygenase"	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.69C>G	10.37:g.102295784C>G		1365	D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L23	ENST00000299163.6	37	c.69	CCDS7498.1	10																																																																																			HIF1AN	-	NULL		0.692	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	C	NM_017902		102295784	1	no_errors	ENST00000299163	ensembl	human	known	70_37	silent	SNP	0.000	G	G	102295784	C	G	102295784	2	3	45	1	0	0	0	0	0	0	0	1	7124	871	31	1		1	HIF1AN	10	102295784	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	10816575	102295784	33238963	88	6213										
SORCS1	114815	genome.wustl.edu	37	chr10	108466392	108466392	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tggccgccctcctgatgtcaGctggatcataaaaacaagac	9	12	2	2	rs372404908		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:108466392G>T	ENST00000263054.6	-	8	1151	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	SORCS1_ENST00000344440.6_Splice_Site_p.L382M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	382					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTGATGTCAGCTGGATCATA	0.478																																																	0													113	101	105					10																	108466392		2203	4300	6503	SO:0001630	splice_region_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1144-1C>A	10.37:g.108466392G>T			A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L382M	ENST00000263054.6	37	c.1144	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964034	0.53507	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.34859	1.34;1.34	5.64	3.42	0.39159	VPS10 (1);	0.283456	0.29355	N	0.012383	T	0.37758	0.1015	L	0.29908	0.895	0.41780	D	0.989811	P;P;P;P;P	0.52170	0.919;0.951;0.951;0.919;0.951	P;P;P;P;P	0.58928	0.638;0.848;0.802;0.709;0.726	T	0.09975	-1.0650	9	.	.	.	-13.1793	7.6859	0.28540	0.2102:0.131:0.6588:0.0	.	382;382;382;382;382	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	382	ENSP00000263054:L382M;ENSP00000345964:L382M	.	L	-	1	2	SORCS1	108456382	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	1.089000	0.30890	1.360000	0.45960	0.655000	0.94253	CTG	SORCS1	-	smart_VPS10		0.478	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918	Missense_Mutation	108466392	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108466392	G	T	108466392	5	4	45	1	0	0	0	0	0	0	1	0	14960	985	34	4	2672	4	SORCS1	10	108466392	Splice_Site	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	6170608	108466392	27068355	89	6214										
TUBGCP2	10844	genome.wustl.edu	37	chr10	135096699	135096699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tccaggaagcctgtgtggtgGccaaggacgtcgtcaatgtt	14	9	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:135096699G>A	ENST00000252936.3	-	14	2211	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	TUBGCP2_ENST00000543663.1_Silent_p.G752G|TUBGCP2_ENST00000368563.2_Silent_p.G724G|TUBGCP2_ENST00000368562.1_Silent_p.G317G|TUBGCP2_ENST00000417178.2_Silent_p.G594G			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	724					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTGTGTGGTGGCCAAGGACGT	0.602																																																	0													182	152	162					10																	135096699		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2172C>T	10.37:g.135096699G>A			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.G752	ENST00000252936.3	37	c.2256	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_Spc97_Spc98		0.602	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	G			135096699	-1	no_errors	ENST00000543663	ensembl	human	known	70_37	silent	SNP	1.000	A	A	135096699	G	A	135096699	2	1	45	1	0	0	0	0	0	0	0	1	16797	1190	42	4		4	TUBGCP2	10	135096699	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	26630307	135096699	438048	90	6215										
RASSF7	8045	genome.wustl.edu	37	chr11	561798	561798	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggactggcggccatggagctGaaggtgtgggtggatggcat	20	6	0	1	rs143459467	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:561798G>C	ENST00000397583.3	+	2	463	c.30G>C	c.(28-30)ctG>ctC	p.L10L	RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Silent_p.L10L|RASSF7_ENST00000431809.1_Silent_p.L10L|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_Intron|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000454668.2_Silent_p.L10L|RASSF7_ENST00000344375.4_Silent_p.L10L	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	10	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCATGGAGCTGAAGGTGTGGG	0.622																																					Pancreas(184;1170 3913 7268)												0													115	79	91					11																	561798		2201	4300	6501	SO:0001819	synonymous_variant	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.30G>C	11.37:g.561798G>C			G5E9N9|Q3KP41|Q3KP42	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.L10	ENST00000397583.3	37	c.30	CCDS7702.1	11																																																																																			RASSF7	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.622	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	G	NM_003475		561798	1	no_errors	ENST00000344375	ensembl	human	known	70_37	silent	SNP	1.000	C	C	561798	G	C	561798	2	2	45	1	0	0	0	0	0	0	0	1	13121	1277	45	1		1	RASSF7	11	561798	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		561798	134444718	91	6216										
TRPM5	29850	genome.wustl.edu	37	chr11	2442305	2442305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggtgcaggacgcggcccagcGaggccatgccgacagcaacc	15	15	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:2442305G>A	ENST00000155858.6	-	3	430	c.422C>T	c.(421-423)tCg>tTg	p.S141L	TRPM5_ENST00000528453.1_Missense_Mutation_p.S141L|TRPM5_ENST00000452833.1_Missense_Mutation_p.S141L|TRPM5_ENST00000533060.1_Missense_Mutation_p.S141L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCGGCCCAGCGAGGCCATGCC	0.721																																					NSCLC(1;49 61 17205 18850 43201)												0													12	12	12					11																	2442305		2094	4139	6233	SO:0001583	missense	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.422C>T	11.37:g.2442305G>A	ENSP00000155858:p.Ser141Leu			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S141L	ENST00000155858.6	37	c.422	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857581	0.71834	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04	3.97	3.97	0.46021	.	0.094585	0.44688	D	0.000438	T	0.07773	0.0195	L	0.57536	1.79	0.39527	D	0.968619	D;D;P	0.58620	0.983;0.983;0.933	P;P;P	0.47603	0.481;0.481;0.551	T	0.11641	-1.0579	10	0.87932	D	0	-11.4139	13.1225	0.59336	0.0:0.0:1.0:0.0	.	141;141;141	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	L	133;141;141;141;141;141	ENSP00000434383:S133L;ENSP00000155858:S141L;ENSP00000387965:S141L;ENSP00000434121:S141L;ENSP00000436809:S141L	ENSP00000155858:S141L	S	-	2	0	TRPM5	2398881	1.000000	0.71417	0.728000	0.30774	0.084000	0.17831	6.633000	0.74286	1.943000	0.56356	0.491000	0.48974	TCG	TRPM5	-	NULL		0.721	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	G	NM_014555		2442305	-1	no_errors	ENST00000452833	ensembl	human	known	70_37	missense	SNP	0.983	A	A	2442305	G	A	2442305	3	1	45	1	0	0	0	0	1	0	0	0	16620	1059	37	1	3163	1	TRPM5	11	2442305	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	1880507	2442305	132564211	92	6217										
COX8A	1351	genome.wustl.edu	37	chr11	63742188	63742188	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccgctgctgctgcggggcttGacaggctcggcccggcggct	17	15	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:63742188G>C	ENST00000314133.3	+	1	110	c.36G>C	c.(34-36)ttG>ttC	p.L12F	AP000721.4_ENST00000535431.1_Missense_Mutation_p.L12F	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	12					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										TGCGGGGCTTGACAGGCTCGG	0.637																																																	0													23	23	23					11																	63742188		2200	4294	6494	SO:0001583	missense	1351			J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2294	protein-coding gene	gene with protein product		123870	"cytochrome c oxidase subunit VIII", "cytochrome c oxidase subunit 8A (ubiquitous)"	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.36G>C	11.37:g.63742188G>C	ENSP00000321260:p.Leu12Phe		P15955	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8	p.L12F	ENST00000314133.3	37	c.36	CCDS8054.1	11	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313509	0.60414	.	.	ENSG00000176340	ENST00000314133	.	.	.	4.82	-0.8	0.10897	.	0.254138	0.29342	N	0.012435	T	0.62792	0.2457	.	.	.	0.28965	N	0.889612	D	0.89917	1.0	D	0.83275	0.996	T	0.60250	-0.7300	8	0.87932	D	0	-27.5252	10.2338	0.43270	0.0849:0.5895:0.3257:0.0	.	12	P10176	COX8A_HUMAN	F	12	.	ENSP00000321260:L12F	L	+	3	2	COX8A	63498764	0.592000	0.26832	0.618000	0.29105	0.319000	0.28217	0.388000	0.20735	-0.207000	0.10187	0.655000	0.94253	TTG	COX8A	-	NULL		0.637	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX8A	HGNC	protein_coding	OTTHUMT00000396273.1	G	NM_004074		63742188	1	no_errors	ENST00000314133	ensembl	human	known	70_37	missense	SNP	0.669	C	C	63742188	G	C	63742188	3	2	45	1	0	0	0	0	1	0	0	0	3790	1281	45	1	38	1	COX8A	11	63742188	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	61299883	63742188	71264328	93	6218										
RASGRP2	10235	genome.wustl.edu	37	chr11	64507254	64507254	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gttgtccacagtgcagccatGagtcacgaaactgtgatagt	11	9	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:64507254G>A	ENST00000354024.3	-	7	802	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	RASGRP2_ENST00000377494.1_Missense_Mutation_p.H184Y|RASGRP2_ENST00000377497.3_Missense_Mutation_p.H184Y|RASGRP2_ENST00000394432.3_Missense_Mutation_p.H184Y	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	184	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCAGCCATGAGTCACGAAA	0.582																																																	0													94	79	84					11																	64507254		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.550C>T	11.37:g.64507254G>A	ENSP00000338864:p.His184Tyr		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H184Y	ENST00000354024.3	37	c.550	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681114	0.88542	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.64	4.64	0.57946	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.70903	2.155	0.80722	D	1	D;P	0.54207	0.965;0.931	P;P	0.61132	0.884;0.884	T	0.56565	-0.7958	10	0.72032	D	0.01	-1.5648	15.3728	0.74581	0.0:0.0:1.0:0.0	.	184;184	Q7LDG7;A6NDC7	GRP2_HUMAN;.	Y	184	ENSP00000366714:H184Y;ENSP00000377953:H184Y;ENSP00000366717:H184Y;ENSP00000338864:H184Y;ENSP00000399114:H184Y	ENSP00000338864:H184Y	H	-	1	0	RASGRP2	64263830	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.463000	0.97652	2.291000	0.77112	0.555000	0.69702	CAT	RASGRP2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.582	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	G	NM_153819		64507254	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64507254	G	A	64507254	3	1	45	1	0	0	0	0	1	0	0	0	13105	1290	45	1	1319	1	RASGRP2	11	64507254	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	765066	64507254	70499262	94	6219										
TIGD3	220359	genome.wustl.edu	37	chr11	65124400	65124400	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cggcaaaacgcccccgtcctCgcacaaaacctctgagatgc	8	17	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:65124400C>A	ENST00000309880.5	+	2	1328	c.1121C>A	c.(1120-1122)tCg>tAg	p.S374*		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	374						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCCCCGTCCTCGCACAAAACC	0.622																																																	0													56	63	60					11																	65124400		2201	4297	6498	SO:0001587	stop_gained	220359				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1121C>A	11.37:g.65124400C>A	ENSP00000308354:p.Ser374*			Nonsense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S374*	ENST00000309880.5	37	c.1121	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	C	12.06	1.826003	0.32237	.	.	ENSG00000173825	ENST00000309880	.	.	.	3.7	-5.17	0.02849	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-0.7614	3.7332	0.08500	0.2915:0.2286:0.0:0.4799	.	.	.	.	X	374	.	ENSP00000308354:S374X	S	+	2	0	TIGD3	64880976	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.677000	0.05215	-1.328000	0.02261	-0.390000	0.06520	TCG	TIGD3	-	NULL		0.622	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	C	NM_145719		65124400	1	no_errors	ENST00000309880	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	65124400	C	A	65124400	4	1	45	1	0	0	0	0	0	1	0	0	15927	893	31	3	1123	3	TIGD3	11	65124400	Nonsense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	617146	65124400	69882116	95	6220										
KAT5	10524	genome.wustl.edu	37	chr11	65481086	65481086	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acggaaggtggaggtggtttCaccagcaactccagtgccca	13	11	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:65481086C>T	ENST00000377046.3	+	6	736	c.464C>T	c.(463-465)tCa>tTa	p.S155L	KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S136L|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000341318.4_Missense_Mutation_p.S188L|KAT5_ENST00000352980.4_Missense_Mutation_p.S103L	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	155					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAGGTGGTTTCACCAGCAACT	0.532																																																	0													69	71	70					11																	65481086		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.464C>T	11.37:g.65481086C>T	ENSP00000366245:p.Ser155Leu		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.S188L	ENST00000377046.3	37	c.563	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059407	0.55325	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.47177	0.92;1.05;0.91;1.05;1.05;0.85	5.04	5.04	0.67666	.	0.579750	0.16893	N	0.195253	T	0.44052	0.1275	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.22983	0.001;0.007;0.078;0.002	B;B;B;B	0.21708	0.003;0.009;0.036;0.003	T	0.28964	-1.0027	10	0.34782	T	0.22	-7.9049	15.8666	0.79069	0.0:1.0:0.0:0.0	.	136;188;103;155	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	155;103;188;136;97;149	ENSP00000366245:S155L;ENSP00000344955:S103L;ENSP00000340330:S188L;ENSP00000434765:S136L;ENSP00000436000:S97L;ENSP00000436012:S149L	ENSP00000340330:S188L	S	+	2	0	KAT5	65237662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.210000	0.72176	2.355000	0.79922	0.561000	0.74099	TCA	KAT5	-	NULL		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	C	NM_006388		65481086	1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65481086	C	T	65481086	3	4	45	1	0	0	0	0	1	0	0	0	8003	838	29	1	581	1	KAT5	11	65481086	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	356686	65481086	69525430	96	6221										
NADSYN1	55191	genome.wustl.edu	37	chr11	71184348	71184348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccgtacccttcggagatgcgGtgctggtgacatgggacacc	14	12	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:71184348G>T	ENST00000319023.2	+	7	672	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	162	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CGGAGATGCGGTGCTGGTGAC	0.597																																					Ovarian(79;763 1781 6490 50276)												0													139	121	127					11																	71184348		2200	4294	6494	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.484G>T	11.37:g.71184348G>T	ENSP00000326424:p.Val162Leu		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.V162L	ENST00000319023.2	37	c.484	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426217	0.43020	.	.	ENSG00000172890	ENST00000319023	D	0.88277	-2.36	4.99	4.99	0.66335	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000001	D	0.87505	0.6194	L	0.45137	1.4	0.80722	D	1	B	0.33857	0.429	B	0.44044	0.439	T	0.83303	-0.0027	10	0.11182	T	0.66	-32.7639	15.7837	0.78286	0.0:0.0:1.0:0.0	.	162	Q6IA69	NADE_HUMAN	L	162	ENSP00000326424:V162L	ENSP00000326424:V162L	V	+	1	0	NADSYN1	70861996	1.000000	0.71417	0.859000	0.33776	0.016000	0.09150	7.443000	0.80521	2.309000	0.77851	0.561000	0.74099	GTG	NADSYN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase		0.597	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	G	NM_018161		71184348	1	no_errors	ENST00000319023	ensembl	human	known	70_37	missense	SNP	0.999	T	T	71184348	G	T	71184348	3	4	45	1	0	0	0	0	1	0	0	0	10161	1261	44	4	510	4	NADSYN1	11	71184348	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	5703262	71184348	63822168	97	6222										
ODZ4	26011	genome.wustl.edu	37	chr11	78381478	78381478	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgtttctgtagtagcccactGagcggatggtctctagtgtc	12	9	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:78381478G>C	ENST00000278550.7	-	32	6374	c.5912C>G	c.(5911-5913)tCa>tGa	p.S1971*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1971					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S1971L(1)									GTAGCCCACTGAGCGGATGGT	0.542																																																	1	Substitution - Missense(1)	skin(1)											59	60	60					11																	78381478		2000	4157	6157	SO:0001587	stop_gained	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5912C>G	11.37:g.78381478G>C	ENSP00000278550:p.Ser1971*		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1971*	ENST00000278550.7	37	c.5912	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	49	15.603715	0.99839	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6946	0.91596	0.0:0.0:1.0:0.0	.	.	.	.	X	1971;435	.	.	S	-	2	0	ODZ4	78059126	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.601000	0.98297	2.716000	0.92895	0.655000	0.94253	TCA	TENM4	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	G			78381478	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	78381478	G	C	78381478	4	2	45	1	0	0	0	0	0	1	0	0	10861	1294	45	1	2409	1	ODZ4	11	78381478	Nonsense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	7197130	78381478	56625038	98	6223										
GRIN2B	2904	genome.wustl.edu	37	chr12	13717247	13717247	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tggtacacgttgctgtccttCagctgcaggttcccgaacgt	11	12	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:13717247C>G	ENST00000609686.1	-	13	3134	c.2925G>C	c.(2923-2925)ctG>ctC	p.L975L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	975					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTGTCCTTCAGCTGCAGGT	0.537																																																	0													165	134	145					12																	13717247		2203	4300	6503	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2925G>C	12.37:g.13717247C>G			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L975	ENST00000609686.1	37	c.2925	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_NMDAR2_C		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	C			13717247	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	silent	SNP	0.997	G	G	13717247	C	G	13717247	2	3	45	1	0	0	0	0	0	0	0	1	6800	813	29	1		1	GRIN2B	12	13717247	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		13717247	120134648	99	6224										
EPS8	2059	genome.wustl.edu	37	chr12	15813561	15813561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aacttacctcctggtcctttCcttttacctttcttgttttt	3	12	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:15813561C>A	ENST00000281172.5	-	10	1360	c.924G>T	c.(922-924)agG>agT	p.R308S	EPS8_ENST00000540613.1_Missense_Mutation_p.R48S|EPS8_ENST00000543523.1_Missense_Mutation_p.R308S|EPS8_ENST00000543612.1_Missense_Mutation_p.R308S|EPS8_ENST00000542903.1_Missense_Mutation_p.R48S	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	308					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTGGTCCTTTCCTTTTACCTT	0.403																																																	0													122	116	118					12																	15813561		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.924G>T	12.37:g.15813561C>A	ENSP00000281172:p.Arg308Ser		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.R308S	ENST00000281172.5	37	c.924	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333588	0.60853	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.18	4.29	0.51040	.	0.437156	0.27315	N	0.019937	T	0.34454	0.0898	L	0.31926	0.97	0.39501	D	0.968209	B	0.09022	0.002	B	0.14578	0.011	T	0.25606	-1.0127	10	0.87932	D	0	-3.1665	13.8074	0.63240	0.0:0.9266:0.0:0.0734	.	308	Q12929	EPS8_HUMAN	S	308;308;308;48;48;308	ENSP00000441867:R308S;ENSP00000281172:R308S;ENSP00000442388:R308S;ENSP00000441888:R48S;ENSP00000437806:R48S	ENSP00000281172:R308S	R	-	3	2	EPS8	15704828	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	5.622000	0.67750	1.423000	0.47198	0.650000	0.86243	AGG	EPS8	-	NULL		0.403	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	C			15813561	-1	no_errors	ENST00000281172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15813561	C	A	15813561	3	1	45	1	0	0	0	0	1	0	0	0	5206	854	30	3	1592	3	EPS8	12	15813561	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2096314	15813561	118038334	100	6225										
TSPAN11	441631	genome.wustl.edu	37	chr12	31116776	31116776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tgcaggtcgggggagcagccGtcctggctgtgggcatctgg	19	10	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:31116776G>A	ENST00000261177.9	+	3	159	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	TSPAN11_ENST00000544427.1_Missense_Mutation_p.V24I|TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.V34I	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	34						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGGAGCAGCCGTCCTGGCTGT	0.667																																																	0													82	72	76					12																	31116776		2203	4300	6503	SO:0001583	missense	441631				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"Tetraspanins"	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.100G>A	12.37:g.31116776G>A	ENSP00000261177:p.Val34Ile		A1L158|B2RUX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V34I	ENST00000261177.9	37	c.100	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633659	0.47049	.	.	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.78924	-1.22;-1.22;-1.22	3.5	3.5	0.40072	.	0.000000	0.64402	U	0.000004	T	0.69187	0.3083	L	0.47078	1.49	0.49915	D	0.999833	B;B	0.29085	0.162;0.232	B;B	0.31290	0.047;0.127	T	0.63475	-0.6629	10	0.13470	T	0.59	.	12.8516	0.57860	0.0:0.0:1.0:0.0	.	24;34	F5H0F0;A1L157	.;TSN11_HUMAN	I	34;24;34	ENSP00000437403:V34I;ENSP00000439895:V24I;ENSP00000261177:V34I	ENSP00000261177:V34I	V	+	1	0	TSPAN11	31008043	1.000000	0.71417	0.094000	0.20943	0.682000	0.39822	9.049000	0.93837	1.652000	0.50683	0.457000	0.33378	GTC	TSPAN11	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.667	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	G	XM_497334		31116776	1	no_errors	ENST00000261177	ensembl	human	known	70_37	missense	SNP	0.937	A	A	31116776	G	A	31116776	3	1	45	1	0	0	0	0	1	0	0	0	16666	1145	40	2	106	2	TSPAN11	12	31116776	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	15303215	31116776	102735119	101	6226										
OR6C76	390326	genome.wustl.edu	37	chr12	55820622	55820622	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acaagtactctagagctcatGagctttattttagctctgtt	7	8	3	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:55820622G>C	ENST00000328314.3	+	1	585	c.585G>C	c.(583-585)atG>atC	p.M195I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TAGAGCTCATGAGCTTTATTT	0.398																																																	0													108	99	102					12																	55820622		2203	4299	6502	SO:0001583	missense	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.585G>C	12.37:g.55820622G>C	ENSP00000328402:p.Met195Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M195I	ENST00000328314.3	37	c.585	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	g	4.987	0.183242	0.09495	.	.	ENSG00000185821	ENST00000328314	T	0.36157	1.27	4.26	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.107337	0.40908	U	0.000987	T	0.18341	0.0440	N	0.16656	0.425	0.09310	N	1	B	0.15473	0.013	B	0.23275	0.045	T	0.09185	-1.0686	10	0.21014	T	0.42	.	4.824	0.13407	0.111:0.0:0.677:0.212	.	195	A6NM76	O6C76_HUMAN	I	195	ENSP00000328402:M195I	ENSP00000328402:M195I	M	+	3	0	OR6C76	54106889	0.000000	0.05858	0.185000	0.23176	0.987000	0.75469	-0.882000	0.04174	2.357000	0.79964	0.531000	0.56144	ATG	OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	G	NM_001005183		55820622	1	no_errors	ENST00000328314	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55820622	G	C	55820622	3	2	45	1	0	0	0	0	1	0	0	0	11224	1290	45	1	587	1	OR6C76	12	55820622	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	24703846	55820622	78031273	102	6227										
OR6C76	390326	genome.wustl.edu	37	chr12	55820808	55820808	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agctgcatcttcatgtatgtGaaaacatcagcaaaggaagg	10	7	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:55820808G>A	ENST00000328314.3	+	1	771	c.771G>A	c.(769-771)gtG>gtA	p.V257V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCATGTATGTGAAAACATCAG	0.403																																																	0													107	96	100					12																	55820808		2203	4300	6503	SO:0001819	synonymous_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.771G>A	12.37:g.55820808G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V257	ENST00000328314.3	37	c.771	CCDS31823.1	12																																																																																			OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	G	NM_001005183		55820808	1	no_errors	ENST00000328314	ensembl	human	known	70_37	silent	SNP	0.001	A	A	55820808	G	A	55820808	2	1	45	1	0	0	0	0	0	0	0	1	11224	1277	45	1		1	OR6C76	12	55820808	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	186	55820808	78031087	103	6228										
LRRC10	376132	genome.wustl.edu	37	chr12	70004462	70004462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	caggtagagcttgaccagctCcctgaaggagcacacgtgca	12	12	0	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:70004462C>T	ENST00000361484.3	-	1	480	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	53					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGACCAGCTCCCTGAAGGAG	0.582																																																	0													60	52	55					12																	70004462		2203	4300	6503	SO:0001583	missense	376132			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.157G>A	12.37:g.70004462C>T	ENSP00000355166:p.Glu53Lys		Q6ZVY4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E53K	ENST00000361484.3	37	c.157	CCDS31856.1	12	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188041	0.38609	.	.	ENSG00000198812	ENST00000361484	T	0.22539	1.95	5.62	4.73	0.59995	.	0.090810	0.85682	D	0.000000	T	0.14570	0.0352	N	0.04705	-0.18	0.46396	D	0.999027	B	0.27910	0.193	B	0.37015	0.239	T	0.15954	-1.0419	10	0.19147	T	0.46	.	17.1073	0.86667	0.0:0.8735:0.1265:0.0	.	53	Q5BKY1	LRC10_HUMAN	K	53	ENSP00000355166:E53K	ENSP00000355166:E53K	E	-	1	0	LRRC10	68290729	1.000000	0.71417	0.783000	0.31826	0.401000	0.30781	4.855000	0.62925	1.506000	0.48736	0.555000	0.69702	GAG	LRRC10	-	smart_Leu-rich_rpt_typical-subtyp		0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10	HGNC	protein_coding	OTTHUMT00000403834.1	C	NM_201550		70004462	-1	no_errors	ENST00000361484	ensembl	human	known	70_37	missense	SNP	0.997	T	T	70004462	C	T	70004462	3	4	45	1	0	0	0	0	1	0	0	0	8990	864	30	1	680	1	LRRC10	12	70004462	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	14183654	70004462	63847433	104	6229										
SOCS2	8835	genome.wustl.edu	37	chr12	93968515	93968516	+	Frame_Shift_Ins	INS	-	-	T													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aggatggtactggggaagtaINStgactgttaatgaagccaaa							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:93968515_93968516insT	ENST00000340600.2	+	3	755_756	c.157_158insT	c.(157-159)atgfs	p.M53fs	SOCS2_ENST00000549206.1_Frame_Shift_Ins_p.M53fs|SOCS2-AS1_ENST00000500986.1_RNA|SOCS2_ENST00000549122.1_Frame_Shift_Ins_p.M53fs|SOCS2_ENST00000548537.1_3'UTR|SOCS2-AS1_ENST00000499137.2_RNA|SOCS2_ENST00000536696.2_Frame_Shift_Ins_p.M53fs|SOCS2_ENST00000551556.1_Frame_Shift_Ins_p.M53fs	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	53	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTGGGGAAGTATGACTGTTAAT	0.356																																																	0																																										SO:0001589	frameshift_variant	8835			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.158dupT	12.37:g.93968516_93968516dupT	ENSP00000339428:p.Met53fs		A8K3D1|O14542|O95102|Q9UKS5	Frame_Shift_Ins	INS	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.M53fs	ENST00000340600.2	37	c.157_158	CCDS9047.1	12																																																																																			SOCS2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.356	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	HGNC	protein_coding	OTTHUMT00000407731.2	-			93968516	1	no_errors	ENST00000340600	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	93968516	-	T	93968515	7	5	45	1	0	1	1	0	0	0	0	0	14944	449	16	0	163	0	SOCS2	12	93968515	Frame_Shift_Ins	INS	-	TCGA-C5-A7CL-01A-11D-A32I-09	23964053	93968515	39883380	105	6230										
HCFC2	29915	genome.wustl.edu	37	chr12	104458473	104458473	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggagggggaaatgagggcatCgcggatgagctgcacgtcta	18	7	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:104458473C>T	ENST00000229330.4	+	1	239	c.135C>T	c.(133-135)atC>atT	p.I45I	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	45					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAGGGCATCGCGGATGAGC	0.711																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													26	28	27					12																	104458473		2202	4298	6500	SO:0001819	synonymous_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.135C>T	12.37:g.104458473C>T			B2R8Q5|C0H5X3	Silent	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I45	ENST00000229330.4	37	c.135	CCDS9097.1	12																																																																																			HCFC2	-	NULL		0.711	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	C	NM_013320		104458473	1	no_errors	ENST00000229330	ensembl	human	known	70_37	silent	SNP	0.999	T	T	104458473	C	T	104458473	2	4	45	1	0	0	0	0	0	0	0	1	7013	874	31	1		1	HCFC2	12	104458473	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	10489958	104458473	29393422	106	6231										
MED13L	23389	genome.wustl.edu	37	chr12	116457130	116457130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gctgcccaactgcaatgtggCctccagcactggcaacactc	9	16	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:116457130C>T	ENST00000281928.3	-	7	1114	c.908G>A	c.(907-909)gGc>gAc	p.G303D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	303						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCAATGTGGCCTCCAGCACT	0.517																																																	0													134	117	123					12																	116457130		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.908G>A	12.37:g.116457130C>T	ENSP00000281928:p.Gly303Asp		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G303D	ENST00000281928.3	37	c.908	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014972	0.35511	.	.	ENSG00000123066	ENST00000281928	T	0.76839	-1.05	5.24	5.24	0.73138	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.294045	0.38272	N	0.001758	T	0.69378	0.3104	N	0.19112	0.55	0.33124	D	0.542237	D	0.53462	0.96	P	0.51055	0.657	T	0.73720	-0.3894	10	0.33141	T	0.24	.	8.9588	0.35834	0.0:0.7721:0.1504:0.0775	.	303	Q71F56	MD13L_HUMAN	D	303	ENSP00000281928:G303D	ENSP00000281928:G303D	G	-	2	0	MED13L	114941513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.770000	0.38532	2.723000	0.93209	0.585000	0.79938	GGC	MED13L	-	pfam_Mediator_Med13_N_met/fun		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	C			116457130	-1	no_errors	ENST00000281928	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116457130	C	T	116457130	3	4	45	1	0	0	0	0	1	0	0	0	9454	739	26	4	5824	4	MED13L	12	116457130	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	11998657	116457130	17394765	107	6232										
DACH1	1602	genome.wustl.edu	37	chr13	72204688	72204688	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcagcgaacataaaacttacCgacacttgaattcatgtccc	5	12	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr13:72204688C>T	ENST00000359684.2	-	3	1131	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	DACH1_ENST00000313174.7_Splice_Site_p.D378N|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Splice_Site_p.G378R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	378	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TAAAACTTACCGACACTTGAA	0.373																																																	0													207	187	194					13																	72204688		1857	4102	5959	SO:0001630	splice_region_variant	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1132+1G>A	13.37:g.72204688C>T			D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G378S	ENST00000359684.2	37	c.1132		13	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.954098|3.954098|3.954098	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000165659|ENSG00000165659|ENSG00000165659	ENST00000313174|ENST00000305425|ENST00000359684;ENST00000377826	T|T|T	0.31510|0.33865|0.80214	1.49|1.39|-1.35	6.16|6.16|6.16	6.16|6.16|6.16	0.99307|0.99307|0.99307	.|.|.	.|0.000000|0.000000	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	D|D|D	0.84665|0.84665|0.84665	0.5522|0.5522|0.5522	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|P|.	0.76494|0.42248|.	0.999|0.774|.	D|B|.	0.64595|0.26614|.	0.927|0.071|.	T|T|T	0.80415|0.80415|0.80415	-0.1392|-0.1392|-0.1392	8|9|7	.|.|.	.|.|.	.|.|.	-12.1898|-12.1898|-12.1898	20.8598|20.8598|20.8598	0.99761|0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	376|376|.	Q9UI36-3|Q9UI36-2|.	.|.|.	N|R|S	378|378|378	ENSP00000318506:D378N|ENSP00000304994:G378R|ENSP00000352712:G378S	.|.|.	D|G|G	-|-|-	1|1|1	0|0|0	DACH1|DACH1|DACH1	71102689|71102689|71102689	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.976000|0.976000|0.976000	0.42696|0.42696|0.42696	0.867000|0.867000|0.867000	0.49689|0.49689|0.49689	7.395000|7.395000|7.395000	0.79876|0.79876|0.79876	2.937000|2.937000|2.937000	0.99478|0.99478|0.99478	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|GGA|GGC	DACH1	-	NULL		0.373	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	C	NM_004392	Missense_Mutation	72204688	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72204688	C	T	72204688	5	4	45	1	0	0	0	0	0	0	1	0	4225	666	23	2	1030	2	DACH1	13	72204688	Splice_Site	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		72204688	42965190	108	6233										
EFNB2	1948	genome.wustl.edu	37	chr13	107148128	107148128	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcatgaggatcttcatggctCttgtctggcacacccctccc	8	15	5	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr13:107148128C>T	ENST00000245323.4	-	3	616	c.467G>A	c.(466-468)aGa>aAa	p.R156K		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	156	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCATGGCTCTTGTCTGGCA	0.453																																																	0													336	294	308					13																	107148128		2203	4300	6503	SO:0001583	missense	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.467G>A	13.37:g.107148128C>T	ENSP00000245323:p.Arg156Lys		Q5JV56	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.R156K	ENST00000245323.4	37	c.467	CCDS9507.1	13	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531029	0.27387	.	.	ENSG00000125266	ENST00000245323	D	0.92965	-3.14	5.49	4.53	0.55603	Cupredoxin (2);	0.085167	0.85682	D	0.000000	T	0.76941	0.4058	N	0.05078	-0.115	0.45108	D	0.998126	B	0.02656	0.0	B	0.08055	0.003	T	0.68965	-0.5270	10	0.10902	T	0.67	.	3.5354	0.07792	0.0:0.647:0.0:0.353	.	156	P52799	EFNB2_HUMAN	K	156	ENSP00000245323:R156K	ENSP00000245323:R156K	R	-	2	0	EFNB2	105946129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.939000	0.56591	2.583000	0.87209	0.561000	0.74099	AGA	EFNB2	-	pfam_Ephrin,superfamily_Cupredoxin		0.453	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4	C	NM_004093		107148128	-1	no_errors	ENST00000245323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107148128	C	T	107148128	3	4	45	1	0	0	0	0	1	0	0	0	4966	913	32	1	546	1	EFNB2	13	107148128	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	34943440	107148128	8021750	109	6234										
EFS	10278	genome.wustl.edu	37	chr14	23828654	23828654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cttggggcctccataaccagGcaggcggggtgggggtgggg	21	9	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr14:23828654G>T	ENST00000216733.3	-	4	1640	c.1033C>A	c.(1033-1035)Cct>Act	p.P345T	EFS_ENST00000429593.2_Missense_Mutation_p.P176T|EFS_ENST00000351354.3_Missense_Mutation_p.P252T|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	345	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCATAACCAGGCAGGCGGGGT	0.687																																																	0													40	39	39					14																	23828654		2036	3996	6032	SO:0001583	missense	10278			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1033C>A	14.37:g.23828654G>T	ENSP00000216733:p.Pro345Thr		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.P345T	ENST00000216733.3	37	c.1033	CCDS9595.1	14	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754769	0.31046	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57752	0.38;0.77;0.84	4.69	2.86	0.33363	.	0.350591	0.29668	N	0.011517	T	0.32406	0.0828	N	0.24115	0.695	0.34648	D	0.721303	P;P;B	0.39282	0.666;0.51;0.19	B;B;B	0.36666	0.162;0.23;0.063	T	0.36553	-0.9743	10	0.27082	T	0.32	-2.2671	7.0242	0.24930	0.2045:0.0:0.7955:0.0	.	176;252;345	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	345;252;176	ENSP00000216733:P345T;ENSP00000340607:P252T;ENSP00000416684:P176T	ENSP00000216733:P345T	P	-	1	0	EFS	22898494	1.000000	0.71417	0.999000	0.59377	0.448000	0.32197	1.166000	0.31834	0.600000	0.29862	0.655000	0.94253	CCT	EFS	-	NULL		0.687	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	HGNC	protein_coding	OTTHUMT00000071770.2	G			23828654	-1	no_errors	ENST00000216733	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23828654	G	T	23828654	3	4	45	1	0	0	0	0	1	0	0	0	4969	1203	42	4	664	4	EFS	14	23828654	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		23828654	83520886	110	6235										
BUB1B	701	genome.wustl.edu	37	chr15	40477477	40477477	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggcttctacagcagagttgtCtaagcctacagtccagccat	9	12	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:40477477C>T	ENST00000287598.6	+	7	1058	c.863C>T	c.(862-864)tCt>tTt	p.S288F	BUB1B_ENST00000412359.3_Missense_Mutation_p.S302F	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGAGTTGTCTAAGCCTACA	0.473			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													109	113	112					15																	40477477		2203	4300	6503	SO:0001583	missense	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.863C>T	15.37:g.40477477C>T	ENSP00000287598:p.Ser288Phe		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.S302F	ENST00000287598.6	37	c.905	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839685	0.32513	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15718	2.4;2.4	6.04	-0.639	0.11497	.	0.389995	0.26975	N	0.021557	T	0.09730	0.0239	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.19418	-1.0306	10	0.56958	D	0.05	-1.2776	7.0149	0.24883	0.0:0.4598:0.3474:0.1928	.	302;288	O60566-3;O60566	.;BUB1B_HUMAN	F	288;302;234	ENSP00000287598:S288F;ENSP00000398470:S302F	ENSP00000287598:S288F	S	+	2	0	BUB1B	38264769	0.007000	0.16637	0.018000	0.16275	0.949000	0.60115	0.689000	0.25437	-0.345000	0.08325	0.561000	0.74099	TCT	BUB1B	-	NULL		0.473	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	C			40477477	1	no_errors	ENST00000412359	ensembl	human	known	70_37	missense	SNP	0.001	T	T	40477477	C	T	40477477	3	4	45	1	0	0	0	0	1	0	0	0	1574	913	32	1	889	1	BUB1B	15	40477477	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		40477477	62053915	111	6236										
SPINT1	6692	genome.wustl.edu	37	chr15	41146702	41146702	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	actgccccgacgcctccgacGaggctgcctgtgaaaaatgt	11	14	0	1	rs199651027	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:41146702G>C	ENST00000344051.4	+	7	1330	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q	SPINT1_ENST00000431806.1_Missense_Mutation_p.E350Q|SPINT1_ENST00000562057.1_Missense_Mutation_p.E350Q			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	366	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCCTCCGACGAGGCTGCCTG	0.632																																																	0													48	50	49					15																	41146702		2203	4300	6503	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1096G>C	15.37:g.41146702G>C	ENSP00000342098:p.Glu366Gln		Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E366Q	ENST00000344051.4	37	c.1096	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243819	0.79912	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.98862	-5.19;-5.19	5.4	5.4	0.78164	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.97994	1.0356	10	0.66056	D	0.02	-33.0403	18.7683	0.91881	0.0:0.0:1.0:0.0	.	350;350;366	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	Q	366;333;350	ENSP00000342098:E366Q;ENSP00000409935:E350Q	ENSP00000342098:E366Q	E	+	1	0	SPINT1	38933994	1.000000	0.71417	0.989000	0.46669	0.449000	0.32228	8.938000	0.92943	2.541000	0.85698	0.563000	0.77884	GAG	SPINT1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.632	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	G	NM_003710		41146702	1	no_errors	ENST00000344051	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41146702	G	C	41146702	3	2	45	1	0	0	0	0	1	0	0	0	15098	1059	37	1	1118	1	SPINT1	15	41146702	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	669225	41146702	61384690	112	6237										
GNB5	10681	genome.wustl.edu	37	chr15	52446256	52446256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctgccccagggcctccacccGctccgccacctggtgcactg	10	21	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:52446256G>A	ENST00000261837.7	-	4	321	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GNB5_ENST00000358784.7_Missense_Mutation_p.R44W|GNB5_ENST00000396335.4_Missense_Mutation_p.R44W|GNB5_ENST00000560116.1_Missense_Mutation_p.R44W	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	86					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTCCACCCGCTCCGCCACC	0.562																																																	0													82	70	74					15																	52446256		2195	4293	6488	SO:0001583	missense	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.256C>T	15.37:g.52446256G>A	ENSP00000261837:p.Arg86Trp		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.R86W	ENST00000261837.7	37	c.256	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235048	0.79800	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	T;T;T	0.59224	4.98;0.28;4.98	5.54	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055940	0.64402	D	0.000001	T	0.66973	0.2844	L	0.47190	1.495	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.968;0.99	P;B;P	0.61533	0.89;0.152;0.606	T	0.69870	-0.5028	10	0.72032	D	0.01	-28.5649	15.2252	0.73345	0.0:0.0:0.8588:0.1412	.	44;86;44	Q96F32;O14775;O14775-3	.;GBB5_HUMAN;.	W	86;44;44	ENSP00000261837:R86W;ENSP00000379626:R44W;ENSP00000351635:R44W	ENSP00000261837:R86W	R	-	1	2	GNB5	50233548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.979000	0.70508	2.608000	0.88229	0.558000	0.71614	CGG	GNB5	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu		0.562	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	G			52446256	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52446256	G	A	52446256	3	1	45	1	0	0	0	0	1	0	0	0	6540	1086	38	2	971	2	GNB5	15	52446256	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	11299554	52446256	50085136	113	6238										
CCPG1	9236	genome.wustl.edu	37	chr15	55677852	55677852	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttgctctaaagatgaacattCtggggcgggctcacagctgt	12	9	3	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:55677852C>T	ENST00000310958.6	-	3	419	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	CCPG1_ENST00000569205.1_Missense_Mutation_p.E41K|CCPG1_ENST00000425574.3_Missense_Mutation_p.E41K|CCPG1_ENST00000442196.3_Missense_Mutation_p.E41K|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	41	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GATGAACATTCTGGGGCGGGC	0.378																																																	0													48	49	49					15																	55677852		1815	4078	5893	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.121G>A	15.37:g.55677852C>T	ENSP00000311656:p.Glu41Lys		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.E41K	ENST00000310958.6	37	c.121	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629934	0.67015	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.26373	3.54;3.55;1.74	5.26	4.33	0.51752	.	0.191074	0.45361	D	0.000368	T	0.43919	0.1269	M	0.77820	2.39	0.18873	N	0.999987	P;D;P	0.57899	0.929;0.981;0.929	P;P;P	0.55303	0.773;0.742;0.773	T	0.40308	-0.9570	10	0.72032	D	0.01	.	12.1867	0.54243	0.0:0.8278:0.1722:0.0	.	41;41;41	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	K	41	ENSP00000311656:E41K;ENSP00000403400:E41K;ENSP00000415128:E41K	ENSP00000311656:E41K	E	-	1	0	DYX1C1	53465144	0.217000	0.23597	0.066000	0.19879	0.519000	0.34347	3.427000	0.52785	1.331000	0.45412	0.650000	0.86243	GAA	CCPG1	-	NULL		0.378	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55677852	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.125	T	T	55677852	C	T	55677852	3	4	45	1	0	0	0	0	1	0	0	0	2943	922	32	1	2176	1	CCPG1	15	55677852	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	3231596	55677852	46853540	114	6239										
CELF6	60677	genome.wustl.edu	37	chr15	72582590	72582590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcatccccacaaacagctttCggtcctctggggacaaagcc	9	15	1	0	rs138690830		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:72582590C>T	ENST00000569547.1	-	4	472	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.R134Q|CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.R21Q|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Missense_Mutation_p.R134Q|CELF6_ENST00000543764.2_Missense_Mutation_p.R19Q			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	134	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AAACAGCTTTCGGTCCTCTGG	0.607																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4398		0,0,2199	48	41	43		401,56,401	5.4	1	15	dbSNP_134	43	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	CELF6	NM_001172684.1,NM_001172685.1,NM_052840.4	43,43,43	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	134/455,19/345,134/482	72582590	1,12991	2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.401G>A	15.37:g.72582590C>T	ENSP00000454749:p.Arg134Gln		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R134Q	ENST00000569547.1	37	c.401	CCDS10242.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.146260|3.146260	0.57044|0.57044	0.0|0.0	1.16E-4|1.16E-4	ENSG00000140488|ENSG00000140488	ENST00000379915|ENST00000287202;ENST00000437872;ENST00000543764;ENST00000395258	.|T;T;T	.|0.07908	.|3.15;3.15;3.15	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.32224|0.32224	0.0822|0.0822	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0	.|D;P;D;D	.|0.83275	.|0.944;0.876;0.996;0.964	T|T	0.03717|0.03717	-1.1010|-1.1010	6|10	0.66056|0.87932	D|D	0.02|0	-7.5034|-7.5034	16.3433|16.3433	0.83110|0.83110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;19;21;134	.|B4DJB6;B4DG28;Q96J87-2;Q96J87	.|.;.;.;CELF6_HUMAN	K|Q	12|134;134;19;21	.|ENSP00000287202:R134Q;ENSP00000439956:R19Q;ENSP00000378677:R21Q	ENSP00000369247:E12K|ENSP00000287202:R134Q	E|R	-|-	1|2	0|0	CELF6|CELF6	70369644|70369644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.456000|7.456000	0.80751|0.80751	2.546000|2.546000	0.85860|0.85860	0.561000|0.561000	0.74099|0.74099	GAA|CGA	CELF6	-	pfscan_RRM_dom		0.607	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	HGNC	protein_coding	OTTHUMT00000420180.1	C	NM_052840		72582590	-1	no_errors	ENST00000569547	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72582590	C	T	72582590	3	4	45	1	0	0	0	0	1	0	0	0	3225	884	31	1	1080	1	CELF6	15	72582590	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	16904738	72582590	29948802	115	6240										
ADAMTS7	11173	genome.wustl.edu	37	chr15	79056093	79056093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aggggtgggtgttgcagggcCgggtggtgttgggtctcagc	22	6	1	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:79056093C>T	ENST00000388820.4	-	22	4898	c.4688G>A	c.(4687-4689)cGg>cAg	p.R1563Q		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1563	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTTGCAGGGCCGGGTGGTGTT	0.716																																																	0													9	11	10					15																	79056093		2133	4203	6336	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4688G>A	15.37:g.79056093C>T	ENSP00000373472:p.Arg1563Gln		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1563Q	ENST00000388820.4	37	c.4688	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	c	6.891	0.533978	0.13188	.	.	ENSG00000136378	ENST00000388820	T	0.49720	0.77	4.42	1.47	0.22746	.	0.238929	0.34879	N	0.003608	T	0.24160	0.0585	N	0.17800	0.525	0.20563	N	0.999881	B	0.33904	0.431	B	0.27715	0.082	T	0.18147	-1.0346	10	0.15952	T	0.53	.	8.0311	0.30465	0.0:0.7235:0.0:0.2765	.	1563	Q9UKP4	ATS7_HUMAN	Q	1563	ENSP00000373472:R1563Q	ENSP00000373472:R1563Q	R	-	2	0	ADAMTS7	76843148	0.001000	0.12720	0.049000	0.19019	0.149000	0.21700	0.471000	0.22100	0.013000	0.14918	-0.240000	0.12126	CGG	ADAMTS7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.716	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	C	NM_014272		79056093	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	missense	SNP	0.303	T	T	79056093	C	T	79056093	3	4	45	1	0	0	0	0	1	0	0	0	271	652	23	2	384	2	ADAMTS7	15	79056093	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	6473503	79056093	23475299	116	6241										
NTRK3	4916	genome.wustl.edu	37	chr15	88680772	88680772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggatgtcacagctgcagttgAaaaagttctgctccaactgc	10	10	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:88680772A>G	ENST00000360948.2	-	6	646	c.485T>C	c.(484-486)tTc>tCc	p.F162S	NTRK3_ENST00000357724.2_Missense_Mutation_p.F162S|NTRK3_ENST00000540489.2_Missense_Mutation_p.F162S|NTRK3_ENST00000394480.2_Missense_Mutation_p.F162S|NTRK3_ENST00000317501.3_Missense_Mutation_p.F162S|NTRK3_ENST00000558676.1_Missense_Mutation_p.F162S|NTRK3_ENST00000542733.2_Missense_Mutation_p.F64S|NTRK3_ENST00000355254.2_Missense_Mutation_p.F162S|NTRK3_ENST00000557856.1_Missense_Mutation_p.F162S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	162	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGCAGTTGAAAAAGTTCTG	0.587			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													69	59	63					15																	88680772		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.485T>C	15.37:g.88680772A>G	ENSP00000354207:p.Phe162Ser		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F162S	ENST00000360948.2	37	c.485	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	31	5.082830	0.94050	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.71	5.71	0.89125	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.999;0.999;0.997	D;D;D;D;D;D	0.83275	0.996;0.986;0.942;0.996;0.992;0.942	D	0.95033	0.8171	10	0.87932	D	0	.	15.1853	0.72996	1.0:0.0:0.0:0.0	.	64;162;162;162;162;162	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	162;162;162;162;64;162;162	ENSP00000377990:F162S;ENSP00000354207:F162S;ENSP00000350356:F162S;ENSP00000347397:F162S;ENSP00000437773:F64S;ENSP00000444673:F162S;ENSP00000318328:F162S	ENSP00000318328:F162S	F	-	2	0	NTRK3	86481776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.762000	0.91711	2.171000	0.68590	0.528000	0.53228	TTC	NTRK3	-	smart_Cys-rich_flank_reg_C		0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		A			88680772	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88680772	A	G	88680772	3	3	45	1	0	0	0	0	1	0	0	0	10732	246	9	5	2352	5	NTRK3	15	88680772	Missense_Mutation	SNP	A	TCGA-C5-A7CL-01A-11D-A32I-09	9624679	88680772	13850620	117	6242										
RAB11FIP3	9727	genome.wustl.edu	37	chr16	570765	570765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agcaggaggagatcaacttcCgcctgcaggactacatcgac	11	12	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:570765C>A	ENST00000262305.4	+	14	2585	c.2197C>A	c.(2197-2199)Cgc>Agc	p.R733S	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R437S|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R778S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	733	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GATCAACTTCCGCCTGCAGGA	0.587																																					Melanoma(160;2366 2595 4474 8099)												0													159	127	138					16																	570765		2201	4300	6501	SO:0001583	missense	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2197C>A	16.37:g.570765C>A	ENSP00000262305:p.Arg733Ser		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.R778S	ENST00000262305.4	37	c.2332	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410624	0.62399	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000448401	.	.	.	4.35	4.35	0.52113	Rab-binding domain FIP-RBD (2);	.	.	.	.	T	0.77136	0.4086	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.79850	-0.1629	8	0.66056	D	0.02	-32.7857	15.9773	0.80079	0.0:1.0:0.0:0.0	.	778;437;733	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	S	733;778;654;437;437	.	ENSP00000262305:R733S	R	+	1	0	RAB11FIP3	510766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.009000	0.49552	2.411000	0.81874	0.561000	0.74099	CGC	RAB11FIP3	-	pfam_Rab-bd_FIP-RBD		0.587	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4	C	NM_014700		570765	1	no_errors	ENST00000457159	ensembl	human	known	70_37	missense	SNP	1.000	A	A	570765	C	A	570765	3	1	45	1	0	0	0	0	1	0	0	0	12925	652	23	2	2270	2	RAB11FIP3	16	570765	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		570765	89783988	118	6243										
PIGQ	9091	genome.wustl.edu	37	chr16	628881	628881	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggtggccctgtccctcctctCggacattatcgccctcctca	8	18	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:628881C>G	ENST00000026218.5	+	6	1254	c.1166C>G	c.(1165-1167)tCg>tGg	p.S389W	PIGQ_ENST00000321878.5_Missense_Mutation_p.S389W|PIGQ_ENST00000409527.2_Missense_Mutation_p.S389W	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	389	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCCCTCCTCTCGGACATTATC	0.647																																																	0													155	134	141					16																	628881		2201	4300	6501	SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1166C>G	16.37:g.628881C>G	ENSP00000026218:p.Ser389Trp		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.S389W	ENST00000026218.5	37	c.1166	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850658	0.71719	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.50548	0.74;0.74;2.05	5.49	5.49	0.81192	.	0.186027	0.49305	D	0.000145	T	0.69378	0.3104	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71227	-0.4655	10	0.62326	D	0.03	-16.4684	18.3555	0.90356	0.0:1.0:0.0:0.0	.	403;389;389	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	W	389	ENSP00000386760:S389W;ENSP00000326674:S389W;ENSP00000026218:S389W	ENSP00000026218:S389W	S	+	2	0	PIGQ	568882	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	7.769000	0.85360	2.591000	0.87537	0.591000	0.81541	TCG	PIGQ	-	pfam_GlcNAc_Gpi1		0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	C	NM_004204		628881	1	no_errors	ENST00000026218	ensembl	human	known	70_37	missense	SNP	1.000	G	G	628881	C	G	628881	3	3	45	1	0	0	0	0	1	0	0	0	11920	893	31	1	1184	1	PIGQ	16	628881	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	58116	628881	89725872	119	6244										
ZNF597	146434	genome.wustl.edu	37	chr16	3490834	3490834	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agccgcatcctccaaagactCttttgtaccatctttgctga	6	13	2	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:3490834C>G	ENST00000301744.4	-	3	368	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000608722.1_5'Flank|NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000424546.2_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	45	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCCAAAGACTCTTTTGTACCA	0.463																																																	0													107	90	96					16																	3490834		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.133G>C	16.37:g.3490834C>G	ENSP00000301744:p.Glu45Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E45Q	ENST00000301744.4	37	c.133	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403914	0.25291	.	.	ENSG00000167981	ENST00000301744	T	0.04317	3.65	4.07	3.12	0.35913	Krueppel-associated box (3);	0.418161	0.17752	N	0.163194	T	0.14614	0.0353	M	0.90814	3.15	0.09310	N	1	P	0.49307	0.922	P	0.49252	0.604	T	0.08452	-1.0721	10	0.87932	D	0	-5.0167	7.5987	0.28063	0.0:0.8832:0.0:0.1168	.	45	Q96LX8	ZN597_HUMAN	Q	45	ENSP00000301744:E45Q	ENSP00000301744:E45Q	E	-	1	0	ZNF597	3430835	0.067000	0.21026	0.031000	0.17742	0.023000	0.10783	2.230000	0.42999	1.058000	0.40530	0.563000	0.77884	GAG	ZNF597	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box		0.463	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	C	NM_152457		3490834	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.021	G	G	3490834	C	G	3490834	3	3	45	1	0	0	0	0	1	0	0	0	18057	922	32	1	1149	1	ZNF597	16	3490834	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2861953	3490834	86863919	120	6245										
CIITA	4261	genome.wustl.edu	37	chr16	11002911	11002911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccttgagcgacacggtggcgCtgtgggagtccctgcagcag	16	12	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:11002911C>T	ENST00000324288.8	+	12	2816	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.L311L	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	895					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACGGTGGCGCTGTGGGAGTC	0.597			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													60	45	50					16																	11002911		2197	4300	6497	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2683C>T	16.37:g.11002911C>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.L895	ENST00000324288.8	37	c.2683	CCDS10544.1	16																																																																																			CIITA	-	NULL		0.597	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	C	NM_000246		11002911	1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	0.964	T	T	11002911	C	T	11002911	2	4	45	1	0	0	0	0	0	0	0	1	3433	796	28	4		4	CIITA	16	11002911	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	7512077	11002911	79351842	121	6246										
TGFB1I1	7041	genome.wustl.edu	37	chr16	31488298	31488298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aactacatctcggcgctcagCgcgctctggcacccggactg	11	16	3	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:31488298C>T	ENST00000394863.3	+	10	1216	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TGFB1I1_ENST00000361773.3_Silent_p.S345S|TGFB1I1_ENST00000567607.1_Silent_p.S345S|TGFB1I1_ENST00000394858.2_Silent_p.S345S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	362	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CGGCGCTCAGCGCGCTCTGGC	0.716																																																	0													7	8	8					16																	31488298		2174	4239	6413	SO:0001819	synonymous_variant	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1086C>T	16.37:g.31488298C>T			B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.S362	ENST00000394863.3	37	c.1086	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.716	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31488298	1	no_errors	ENST00000394863	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31488298	C	T	31488298	2	4	45	1	0	0	0	0	0	0	0	1	15847	767	27	2		2	TGFB1I1	16	31488298	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	20485387	31488298	58866455	122	6247										
CCL22	6367	genome.wustl.edu	37	chr16	57397455	57397455	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aaggagatctgtgccgatccCagagtgccctgggtgaagat	14	9	1	4			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:57397455C>A	ENST00000219235.4	+	3	282	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	79					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GTGCCGATCCCAGAGTGCCCT	0.542																																																	0													113	94	101					16																	57397455		2198	4300	6498	SO:0001819	synonymous_variant	6367			U83171	CCDS10778.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102962	ENSG00000102962		"Chemokine ligands", "Endogenous ligands"	10621	protein-coding gene	gene with protein product		602957	"small inducible cytokine subfamily A (Cys-Cys), member 22"	SCYA22		9151897, 9691168	Standard	NM_002990		Approved	MDC, STCP-1, ABCD-1, DC/B-CK, A-152E5.1, MGC34554	uc002elh.3	O00626	OTTHUMG00000133454	ENST00000219235.4:c.237C>A	16.37:g.57397455C>A			A0N0Q6|B2R4W2	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8	p.P79	ENST00000219235.4	37	c.237	CCDS10778.1	16																																																																																			CCL22	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8		0.542	CCL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL22	HGNC	protein_coding	OTTHUMT00000257328.1	C	NM_002990		57397455	1	no_errors	ENST00000219235	ensembl	human	known	70_37	silent	SNP	0.924	A	A	57397455	C	A	57397455	2	1	45	1	0	0	0	0	0	0	0	1	2899	581	21	4		4	CCL22	16	57397455	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	25909157	57397455	32957298	123	6248										
PSMB10	5699	genome.wustl.edu	37	chr16	67970623	67970626	+	Frame_Shift_Del	DEL	CCCT	CCCT	-													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cagttctcgaaggagaagccCcctcggggctccagggctgg							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CCCT	CCCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:67970623_67970626delCCCT	ENST00000358514.4	-	1	364_367	c.27_30delAGGG	c.(25-30)cgagggfs	p.RG9fs	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	AGGAGAAGCCCCCTCGGGGCTCCA	0.672																																																	0																																										SO:0001589	frameshift_variant	5699			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.27_30delAGGG	16.37:g.67970623_67970626delCCCT	ENSP00000351314:p.Arg9fs		B2R5J4|Q5U098	Frame_Shift_Del	DEL	pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB	p.G10fs	ENST00000358514.4	37	c.30_27	CCDS10853.1	16																																																																																			PSMB10	-	NULL		0.672	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB10	HGNC	protein_coding	OTTHUMT00000268887.1	CCCT	NM_002801		67970626	-1	no_errors	ENST00000358514	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.999:0.928:0.344	-	-	67970626	CCCT	-	67970623	7	5	45	1	0	1	0	1	0	0	0	0	12702	610	22	0	823	0	PSMB10	16	67970623	Frame_Shift_Del	DEL	CCCT	TCGA-C5-A7CL-01A-11D-A32I-09	10573168	67970623	22384130	124	6249										
WWP2	11060	genome.wustl.edu	37	chr16	69971535	69971535	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	actacaccaagaacagcaagCagatccagtggttctggcag	10	11	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:69971535C>T	ENST00000359154.2	+	21	2424	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q775*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q775*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.Q336*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q659*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	775	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACAGCAAGCAGATCCAGTG	0.612																																																	0													101	81	87					16																	69971535		2198	4300	6498	SO:0001587	stop_gained	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2323C>T	16.37:g.69971535C>T	ENSP00000352069:p.Gln775*		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.Q775*	ENST00000359154.2	37	c.2323	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.909358	0.98557	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.56	5.56	0.83823	.	0.055531	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	.	.	.	X	775;775;775;662;659	.	.	Q	+	1	0	WWP2	68529036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.620000	0.88729	0.655000	0.94253	CAG	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	C	NM_007014		69971535	1	no_errors	ENST00000356003	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	69971535	C	T	69971535	4	4	45	1	0	0	0	0	0	1	0	0	17447	711	25	4	2405	4	WWP2	16	69971535	Nonsense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2000912	69971535	20383218	125	6250										
CRK	1398	genome.wustl.edu	37	chr17	1326941	1326941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cgtaacctttaccagctcacCgacctgcaggaggagaataa	9	12	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:1326941C>T	ENST00000300574.2	-	3	921	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	CRK_ENST00000398970.5_Missense_Mutation_p.R204Q|RP11-818O24.3_ENST00000570924.1_RNA|CRK_ENST00000572145.1_5'UTR|RP11-818O24.3_ENST00000576825.1_RNA|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	261	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ACCAGCTCACCGACCTGCAGG	0.498																																																	0													171	134	147					17																	1326941		2203	4300	6503	SO:0001583	missense	1398			D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.781G>A	17.37:g.1326941C>T	ENSP00000300574:p.Gly261Ser		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.G261S	ENST00000300574.2	37	c.781	CCDS11002.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.73|19.73	3.882145|3.882145	0.72294|0.72294	.|.	.|.	ENSG00000167193|ENSG00000167193	ENST00000300574|ENST00000398970	T|T	0.38077|0.19250	1.16|2.16	5.9|5.9	5.9|5.9	0.94986|0.94986	Src homology-3 domain (2);Variant SH3 (1);|.	0.251330|.	0.47093|.	D|.	0.000248|.	T|T	0.20780|0.20780	0.0500|0.0500	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52170	1.0|0.951	D|B	0.97110|0.41412	1.0|0.356	T|T	0.01024|0.01024	-1.1477|-1.1477	9|8	0.87932|0.28530	D|T	0|0.3	-23.7139|-23.7139	17.7661|17.7661	0.88478|0.88478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	261|204	P46108|P46108-2	CRK_HUMAN|.	S|Q	261|204	ENSP00000300574:G261S|ENSP00000381942:R204Q	ENSP00000300574:G261S|ENSP00000381942:R204Q	G|R	-|-	1|2	0|0	CRK|CRK	1273691|1273691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GGT|CGG	CRK	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.498	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRK	HGNC	protein_coding	OTTHUMT00000206679.1	C	NM_016823		1326941	-1	no_errors	ENST00000300574	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1326941	C	T	1326941	3	4	45	1	0	0	0	0	1	0	0	0	3889	652	23	2	137	2	CRK	17	1326941	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		1326941	79868269	126	6251										
TMEM102	284114	genome.wustl.edu	37	chr17	7340051	7340051	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gaaagcccagtcccaaagccGtcggaggctcgggaagcgtg	15	12	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:7340051G>T	ENST00000323206.1	+	3	1026	c.753G>T	c.(751-753)ccG>ccT	p.P251P	RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_5'Flank|TMEM102_ENST00000396568.1_Silent_p.P251P|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	251					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCCAAAGCCGTCGGAGGCTC	0.612																																																	0													77	81	80					17																	7340051		2203	4300	6503	SO:0001819	synonymous_variant	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.753G>T	17.37:g.7340051G>T			D3DTP8	Silent	SNP	NULL	p.P251	ENST00000323206.1	37	c.753	CCDS11104.1	17																																																																																			TMEM102	-	NULL		0.612	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM102	HGNC	protein_coding	OTTHUMT00000256405.1	G	NM_178518		7340051	1	no_errors	ENST00000323206	ensembl	human	known	70_37	silent	SNP	0.000	T	T	7340051	G	T	7340051	2	4	45	1	0	0	0	0	0	0	0	1	16047	1132	40	2		2	TMEM102	17	7340051	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	6013110	7340051	73855159	127	6252										
KDM6B	23135	genome.wustl.edu	37	chr17	7750482	7750482	+	Frame_Shift_Del	DEL	C	C	-													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gctccagcgtacaccgcgcaCccccctggccaccggctggt					rs374365569		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:7750482delC	ENST00000448097.2	+	10	1300	c.969delC	c.(967-969)cacfs	p.H323fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.H323fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	323	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACACCGCGCACCCCCCTGGCC	0.682																																																	0													43	54	50					17																	7750482		2193	4277	6470	SO:0001589	frameshift_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.969delC	17.37:g.7750482delC	ENSP00000412513:p.His323fs		C9IZ40|Q96G33	Frame_Shift_Del	DEL	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P325fs	ENST00000448097.2	37	c.969		17																																																																																			KDM6B	-	NULL		0.682	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	C	XM_043272		7750482	1	no_errors	ENST00000254846	ensembl	human	known	70_37	frame_shift_del	DEL	0.895	-	-	7750482	C	-	7750482	7	5	45	1	0	1	0	1	0	0	0	0	8158	506	18	0	995	0	KDM6B	17	7750482	Frame_Shift_Del	DEL	C	TCGA-C5-A7CL-01A-11D-A32I-09	410431	7750482	73444728	128	6253										
CPD	1362	genome.wustl.edu	37	chr17	28783348	28783348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	catccatgcacatgggtcagCccagttgcccaaataaatca	7	13	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:28783348C>T	ENST00000225719.4	+	16	3488	c.3412C>T	c.(3412-3414)Ccc>Tcc	p.P1138S	CPD_ENST00000543464.2_Missense_Mutation_p.P891S|CPD_ENST00000584051.1_3'UTR	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1138	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CATGGGTCAGCCCAGTTGCCC	0.373																																																	0													82	70	74					17																	28783348		2203	4300	6503	SO:0001583	missense	1362			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3412C>T	17.37:g.28783348C>T	ENSP00000225719:p.Pro1138Ser		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.P1138S	ENST00000225719.4	37	c.3412	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058989	0.36373	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.18174	2.23;3.34	5.01	5.01	0.66863	Peptidase M14, carboxypeptidase A (2);	0.064498	0.64402	D	0.000005	T	0.29423	0.0733	L	0.43598	1.365	0.48511	D	0.999662	P;D	0.55605	0.458;0.972	B;P	0.58721	0.137;0.844	T	0.01195	-1.1422	10	0.23891	T	0.37	.	17.3345	0.87276	0.0:1.0:0.0:0.0	.	891;1138	F5GZH6;O75976	.;CBPD_HUMAN	S	1138;891	ENSP00000225719:P1138S;ENSP00000444443:P891S	ENSP00000225719:P1138S	P	+	1	0	CPD	25807474	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	4.428000	0.59894	2.329000	0.79093	0.655000	0.94253	CCC	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.373	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	C	NM_001304		28783348	1	no_errors	ENST00000225719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28783348	C	T	28783348	3	4	45	1	0	0	0	0	1	0	0	0	3803	739	26	4	3474	4	CPD	17	28783348	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	21032866	28783348	52411862	129	6254										
ZNF207	7756	genome.wustl.edu	37	chr17	30696449	30696449	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcatcccacagcaacaaggaAtgagacccccaatgccacct	7	16	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:30696449A>T	ENST00000321233.6	+	10	1406	c.1252A>T	c.(1252-1254)Atg>Ttg	p.M418L	ZNF207_ENST00000394673.2_Missense_Mutation_p.M403L|ZNF207_ENST00000394670.4_Missense_Mutation_p.M434L|ZNF207_ENST00000341711.6_Missense_Mutation_p.M335L|ZNF207_ENST00000577908.1_Missense_Mutation_p.M434L|ZNF207_ENST00000342555.6_Missense_Mutation_p.M437L	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	418					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCAACAAGGAATGAGACCCCC	0.448																																																	0													138	145	143					17																	30696449		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1252A>T	17.37:g.30696449A>T	ENSP00000322777:p.Met418Leu		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.M434L	ENST00000321233.6	37	c.1300	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720871	0.48728	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.47528	0.84;0.85	5.97	5.97	0.96955	.	0.038422	0.85682	D	0.000000	T	0.34454	0.0898	N	0.24115	0.695	0.52501	D	0.999953	B;B;B;B;B	0.32245	0.361;0.361;0.361;0.201;0.361	B;B;B;B;B	0.31946	0.138;0.138;0.138;0.044;0.138	T	0.15235	-1.0444	10	0.12103	T	0.63	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	387;437;434;403;418	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	L	434;387;437;403;335;418	ENSP00000378165:M434L;ENSP00000344913:M335L	ENSP00000322777:M403L	M	+	1	0	ZNF207	27720562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.285000	0.76669	0.477000	0.44152	ATG	ZNF207	-	NULL		0.448	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	A			30696449	1	no_errors	ENST00000394670	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30696449	A	T	30696449	3	4	45	1	0	0	0	0	1	0	0	0	17795	101	4	5	1342	5	ZNF207	17	30696449	Missense_Mutation	SNP	A	TCGA-C5-A7CL-01A-11D-A32I-09	1913101	30696449	50498761	130	6255										
NR1D1	9572	genome.wustl.edu	37	chr17	38252730	38252730	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cccacagagagacacttcttGaagcgacattgctggcagcg	11	12	1	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:38252730G>C	ENST00000246672.3	-	4	1200	c.570C>G	c.(568-570)ttC>ttG	p.F190L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	190	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GACACTTCTTGAAGCGACATT	0.522																																																	0													119	105	109					17																	38252730		2203	4300	6503	SO:0001583	missense	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.570C>G	17.37:g.38252730G>C	ENSP00000246672:p.Phe190Leu		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.F190L	ENST00000246672.3	37	c.570	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422794	0.83559	.	.	ENSG00000126368	ENST00000246672	D	0.96522	-4.04	4.41	4.41	0.53225	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.134465	0.49305	D	0.000149	D	0.91872	0.7427	N	0.20881	0.62	0.80722	D	1	P	0.43938	0.822	B	0.41174	0.349	D	0.90579	0.4528	10	0.12103	T	0.63	.	16.3353	0.83059	0.0:0.0:1.0:0.0	.	190	P20393	NR1D1_HUMAN	L	190	ENSP00000246672:F190L	ENSP00000246672:F190L	F	-	3	2	NR1D1	35506256	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.406000	0.34646	2.451000	0.82905	0.306000	0.20318	TTC	NR1D1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.522	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	G			38252730	-1	no_errors	ENST00000246672	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38252730	G	C	38252730	3	2	45	1	0	0	0	0	1	0	0	0	10639	1281	45	1	1294	1	NR1D1	17	38252730	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	7556281	38252730	42942480	131	6256										
MBTD1	54799	genome.wustl.edu	37	chr17	49302481	49302481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ctctcttcggagctggagctGctgcttgtgtcctcactgca	11	13	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:49302481G>A	ENST00000586178.1	-	3	385	c.42C>T	c.(40-42)agC>agT	p.S14S	MBTD1_ENST00000593259.1_5'Flank|MBTD1_ENST00000376381.2_Silent_p.S14S|MBTD1_ENST00000415868.1_Silent_p.S14S	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	14					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AGCTGGAGCTGCTGCTTGTGT	0.438																																																	0													108	99	102					17																	49302481		692	1591	2283	SO:0001819	synonymous_variant	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.42C>T	17.37:g.49302481G>A			Q6ZVU7|Q9NXU1	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.S14	ENST00000586178.1	37	c.42	CCDS11581.2	17																																																																																			MBTD1	-	NULL		0.438	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	G			49302481	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49302481	G	A	49302481	2	1	45	1	0	0	0	0	0	0	0	1	9383	1310	46	4		4	MBTD1	17	49302481	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	11049751	49302481	31892729	132	6257										
USP32	84669	genome.wustl.edu	37	chr17	58303502	58303502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gctgcttccaattctatcttCgacctgctccataggatggg	9	12	2	0	rs376352735		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:58303502C>T	ENST00000300896.4	-	13	1524	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	USP32_ENST00000592339.1_Missense_Mutation_p.E114K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	444	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTCTATCTTCGACCTGCTCC	0.433																																																	0								C	LYS/GLU	0,4406		0,0,2203	135	128	130		1330	5.3	1	17		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP32	NM_032582.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	444/1605	58303502	1,13005	2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1330G>A	17.37:g.58303502C>T	ENSP00000300896:p.Glu444Lys		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.E444K	ENST00000300896.4	37	c.1330	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969756	0.53614	0.0	1.16E-4	ENSG00000170832	ENST00000300896	T	0.43688	0.94	5.28	5.28	0.74379	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.278455	0.40222	N	0.001153	T	0.34019	0.0883	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.19946	0.027	T	0.07214	-1.0784	10	0.34782	T	0.22	.	17.0991	0.86644	0.0:1.0:0.0:0.0	.	444	Q8NFA0	UBP32_HUMAN	K	444	ENSP00000300896:E444K	ENSP00000300896:E444K	E	-	1	0	USP32	55658284	0.998000	0.40836	0.977000	0.42913	0.832000	0.47134	3.909000	0.56363	2.464000	0.83262	0.561000	0.74099	GAA	USP32	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	C	NM_032582		58303502	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	0.984	T	T	58303502	C	T	58303502	3	4	45	1	0	0	0	0	1	0	0	0	17094	893	31	1	3572	1	USP32	17	58303502	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	9001021	58303502	22891708	133	6258										
DYM	54808	genome.wustl.edu	37	chr18	46783450	46783450	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	catatttgctaaagctgccaAacaatttgtgtgaaggtact	8	7	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr18:46783450A>C	ENST00000269445.6	-	13	1847	c.1390T>G	c.(1390-1392)Ttg>Gtg	p.L464V	DYM_ENST00000442713.2_Missense_Mutation_p.L274V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	464					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AAAGCTGCCAAACAATTTGTG	0.368																																																	0													132	105	114					18																	46783450		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1390T>G	18.37:g.46783450A>C	ENSP00000269445:p.Leu464Val		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.L464V	ENST00000269445.6	37	c.1390	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644930	0.67358	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.88586	-2.4;-2.4	5.54	-1.62	0.08372	.	0.000000	0.85682	D	0.000000	D	0.93654	0.7973	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;1.0	D;D;D;D	0.91635	0.994;0.999;0.992;0.998	D	0.91712	0.5382	10	0.87932	D	0	-10.6399	10.2461	0.43341	0.5736:0.0:0.4264:0.0	.	274;18;286;464	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	V	69;274;464	ENSP00000395942:L274V;ENSP00000269445:L464V	ENSP00000269445:L464V	L	-	1	2	DYM	45037448	1.000000	0.71417	0.360000	0.25837	0.875000	0.50365	1.261000	0.32980	-0.550000	0.06183	0.533000	0.62120	TTG	DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold		0.368	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	A	NM_017653		46783450	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	0.989	C	C	46783450	A	C	46783450	3	2	45	1	0	0	0	0	1	0	0	0	4850	11	1	5	639	5	DYM	18	46783450	Missense_Mutation	SNP	A	TCGA-C5-A7CL-01A-11D-A32I-09		46783450	31293798	134	6259										
FECH	2235	genome.wustl.edu	37	chr18	55226399	55226399	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acatgggcagtgagtgagcaGaaaacagaatgaccacctcg	12	9	0	5			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr18:55226399G>A	ENST00000262093.5	-	7	933	c.782C>T	c.(781-783)tCt>tTt	p.S261F	FECH_ENST00000382873.3_Missense_Mutation_p.S267F	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	261					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TGAGTGAGCAGAAAACAGAAT	0.413																																																	0			GRCh37	HM080005	FECH	M							117	106	110					18																	55226399		2203	4300	6503	SO:0001583	missense	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.782C>T	18.37:g.55226399G>A	ENSP00000262093:p.Ser261Phe		A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	pfam_Ferrochelatase,tigrfam_Ferrochelatase	p.S267F	ENST00000262093.5	37	c.800	CCDS11964.1	18	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639486	0.87760	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.98028	-4.67;-4.67	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.93375	3.41	0.80722	D	1	D;D	0.57571	0.98;0.976	P;P	0.61940	0.896;0.833	D	0.99620	1.0983	10	0.87932	D	0	-16.1461	18.5	0.90877	0.0:0.0:1.0:0.0	.	261;267	P22830;P22830-2	HEMH_HUMAN;.	F	261;267	ENSP00000262093:S261F;ENSP00000372326:S267F	ENSP00000262093:S261F	S	-	2	0	FECH	53377397	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.944000	0.92980	2.530000	0.85305	0.655000	0.94253	TCT	FECH	-	pfam_Ferrochelatase,tigrfam_Ferrochelatase		0.413	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FECH	HGNC	protein_coding	OTTHUMT00000256098.1	G			55226399	-1	no_errors	ENST00000382873	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55226399	G	A	55226399	3	1	45	1	0	0	0	0	1	0	0	0	5826	942	33	1	509	1	FECH	18	55226399	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	8442949	55226399	22850849	135	6260										
STK11	6794	genome.wustl.edu	37	chr19	1218457	1218458	+	Missense_Mutation	DNP	TC	TC	AT													0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gttacggcacaaaaatgtcaTccagctggtggatgtgttat							TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:1218457_1218458TC>AT	ENST00000326873.7	+	2	1505_1506	c.332_333TC>AT	c.(331-333)aTC>aAT	p.I111N	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAATGTCATCCAGCTGGTGG	0.554		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)																																								SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		Exception_encountered	19.37:g.1218457_1218458delinsAT	ENSP00000324856:p.Ile111Asn		B2RBX7|E7EW76	Missense_Mutation|Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I111N|p.I111	ENST00000326873.7	37	c.332|c.333	CCDS45896.1	19																																																																																			STK11	-	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		0.554	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	T|C	NM_000455		1218457|1218458	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense|silent	SNP	1.000	A|T	AT	1218458	TC	AT	1218457	3	1	45	1	0	0	0	0	1	0	0	0	15317	1435	50	5	338	5	STK11	19	1218457	Missense_Mutation	DNP	TC	TCGA-C5-A7CL-01A-11D-A32I-09		1218457	57910526	136	6261										
STK11	6794	genome.wustl.edu	37	chr19	1221966	1221966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	agggatgcttgagtacgaacCggccaagaggttctccatcc	12	11	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:1221966C>T	ENST00000326873.7	+	7	2054	c.881C>T	c.(880-882)cCg>cTg	p.P294L		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTACGAACCGGCCAAGAGG	0.692		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											16	19	18					19																	1221966		1950	4061	6011	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.881C>T	19.37:g.1221966C>T	ENSP00000324856:p.Pro294Leu		B2RBX7|E7EW76	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.P294L	ENST00000326873.7	37	c.881	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911551	0.52439	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87650	-2.28	3.56	3.56	0.40772	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051025	0.85682	D	0.000000	D	0.94656	0.8277	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.96002	0.8994	10	0.87932	D	0	-27.7662	15.4073	0.74890	0.0:1.0:0.0:0.0	.	294	Q15831	STK11_HUMAN	L	294	ENSP00000324856:P294L	ENSP00000324856:P294L	P	+	2	0	STK11	1172966	1.000000	0.71417	0.950000	0.38849	0.051000	0.14879	5.542000	0.67218	2.290000	0.77057	0.561000	0.74099	CCG	STK11	-	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		0.692	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	C	NM_000455		1221966	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1221966	C	T	1221966	3	4	45	1	0	0	0	0	1	0	0	0	15317	652	23	2	907	2	STK11	19	1221966	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	3509	1221966	57907017	137	6262										
ZNF653	115950	genome.wustl.edu	37	chr19	11597904	11597904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gctctgcgctctcaggcaccGttgttgccagctccggggct	13	15	2	0	rs199756281		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:11597904G>A	ENST00000293771.5	-	5	1377	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CTCAGGCACCGTTGTTGCCAG	0.612																																					Pancreas(83;980 1446 4542 6441 43352)												0													67	74	71					19																	11597904		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1241C>T	19.37:g.11597904G>A	ENSP00000293771:p.Thr414Met		Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T414M	ENST00000293771.5	37	c.1241	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504178	0.12822	.	.	ENSG00000161914	ENST00000293771	T	0.11063	2.81	4.36	3.33	0.38152	.	0.859417	0.10449	N	0.673303	T	0.06872	0.0175	N	0.14661	0.345	0.09310	N	1	P	0.49783	0.928	B	0.39660	0.306	T	0.30679	-0.9970	10	0.40728	T	0.16	-10.7371	9.5583	0.39353	0.1011:0.0:0.8989:0.0	.	414	Q96CK0	ZN653_HUMAN	M	414	ENSP00000293771:T414M	ENSP00000293771:T414M	T	-	2	0	ZNF653	11458904	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	1.058000	0.30504	0.972000	0.38314	0.561000	0.74099	ACG	ZNF653	-	NULL		0.612	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2	G	NM_138783		11597904	-1	no_errors	ENST00000293771	ensembl	human	known	70_37	missense	SNP	0.029	A	A	11597904	G	A	11597904	3	1	45	1	0	0	0	0	1	0	0	0	18096	1145	40	2	626	2	ZNF653	19	11597904	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	10375938	11597904	47531079	138	6263										
SLC35E1	79939	genome.wustl.edu	37	chr19	16664607	16664607	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tccccgtgctgggggaagagGaggccgttgtggggcttctc	18	10	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:16664607G>C	ENST00000595753.1	-	6	1133	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	CTD-3222D19.2_ENST00000409035.1_3'UTR|SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.11_ENST00000597357.1_RNA	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	372					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L228L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGGGGAAGAGGAGGCCGTTGT	0.587																																																	1	Substitution - coding silent(1)	lung(1)											121	115	117					19																	16664607		2203	4300	6503	SO:0001819	synonymous_variant	79939			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1116C>G	19.37:g.16664607G>C			Q8NBQ2|Q96JV7	Silent	SNP	pfam_DUF250,pfam_DMT,pfam_UAA	p.L372	ENST00000595753.1	37	c.1116	CCDS12346.2	19																																																																																			SLC35E1	-	NULL		0.587	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	G	NM_024881		16664607	-1	no_errors	ENST00000595753	ensembl	human	known	70_37	silent	SNP	0.003	C	C	16664607	G	C	16664607	2	2	45	1	0	0	0	0	0	0	0	1	14614	1161	41	1		1	SLC35E1	19	16664607	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	5066703	16664607	42464376	139	6264										
ABHD8	79575	genome.wustl.edu	37	chr19	17405201	17405201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtggtagacctcgtcgccctCgggccagtactggccgctca	13	15	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:17405201C>T	ENST00000247706.3	-	4	1284	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	349							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCGTCGCCCTCGGGCCAGTAC	0.617																																					Ovarian(156;1368 2543 15275 41187)												0													124	99	107					19																	17405201		2203	4300	6503	SO:0001583	missense	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1045G>A	19.37:g.17405201C>T	ENSP00000247706:p.Glu349Lys		Q9HAE9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.E349K	ENST00000247706.3	37	c.1045	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795128	0.90453	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.67171	-0.25	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.49350	1.555	0.80722	D	1	P	0.46512	0.879	P	0.44561	0.453	T	0.69453	-0.5141	10	0.52906	T	0.07	-34.6112	16.4003	0.83639	0.0:1.0:0.0:0.0	.	349	Q96I13	ABHD8_HUMAN	K	349;295	ENSP00000247706:E349K	ENSP00000247706:E349K	E	-	1	0	ABHD8	17266201	1.000000	0.71417	0.996000	0.52242	0.268000	0.26511	7.454000	0.80714	2.470000	0.83445	0.655000	0.94253	GAG	ABHD8	-	pfam_AB_hydrolase_1		0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	C	NM_024527		17405201	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17405201	C	T	17405201	3	4	45	1	0	0	0	0	1	0	0	0	87	893	31	1	282	1	ABHD8	19	17405201	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	740594	17405201	41723782	140	6265										
KCNN1	3780	genome.wustl.edu	37	chr19	18092652	18092652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	taccgcttcacgtggacggcGcggctggccttcacgtacgc	13	15	2	0	rs565285734		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:18092652G>A	ENST00000222249.9	+	5	952	c.633G>A	c.(631-633)gcG>gcA	p.A211A		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	211					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CGTGGACGGCGCGGCTGGCCT	0.682													g|||	1	0.000199681	0	0	5008	,	,		11517	0		0.001	False		,,,				2504	0																0													21	24	23					19																	18092652		2192	4278	6470	SO:0001819	synonymous_variant	0			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.633G>A	19.37:g.18092652G>A			Q5KR10|Q6DJU4	RNA	SNP	-	NULL	ENST00000222249.9	37	NULL		19																																																																																			CTB-52I2.8	-	-		0.682	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000105642	Clone_based_vega_gene	protein_coding	OTTHUMT00000471896.2	G	NM_002248		18092652	1	no_errors	ENST00000601725	ensembl	human	known	70_37	rna	SNP	0.970	A	A	18092652	G	A	18092652	2	1	45	1	0	0	0	0	0	0	0	1	8098	1074	38	2		2	KCNN1	19	18092652	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	687451	18092652	41036331	141	6266										
KIAA0892	23383	genome.wustl.edu	37	chr19	19449665	19449665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cctttttagcaactgcacacGcttgagaaggacctggtgtc	10	11	0	1	rs199781947		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:19449665G>A	ENST00000392313.6	+	5	647	c.468G>A	c.(466-468)acG>acA	p.T156T	MAU2_ENST00000262815.8_Silent_p.T156T|MAU2_ENST00000586189.3_Intron	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	156					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.T156T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AACTGCACACGCTTGAGAAGG	0.557																																																	1	Substitution - coding silent(1)	lung(1)											89	100	96					19																	19449665		2005	4162	6167	SO:0001819	synonymous_variant	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.468G>A	19.37:g.19449665G>A			Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.T156	ENST00000392313.6	37	c.468	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor		0.557	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	G	NM_015329		19449665	1	no_errors	ENST00000262815	ensembl	human	known	70_37	silent	SNP	0.226	A	A	19449665	G	A	19449665	2	1	45	1	0	0	0	0	0	0	0	1	8216	1074	38	2		2	KIAA0892	19	19449665	Silent	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	1357013	19449665	39679318	142	6267										
RYR1	6261	genome.wustl.edu	37	chr19	38995490	38995490	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cctcatactcatctaaggcaGagaaaaaggccacagtggat	9	10	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:38995490G>A	ENST00000359596.3	+	51	8170	c.8170G>A	c.(8170-8172)Gag>Aag	p.E2724K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2724K|RYR1_ENST00000355481.4_Missense_Mutation_p.E2724K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2724	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCTAAGGCAGAGAAAAAGGC	0.582																																																	0													62	57	59					19																	38995490		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8170G>A	19.37:g.38995490G>A	ENSP00000352608:p.Glu2724Lys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E2724K	ENST00000359596.3	37	c.8170	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579960	0.65992	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96856	-4.14;-4.15;-4.15	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000004	D	0.94155	0.8125	L	0.60455	1.87	0.46981	D	0.999276	B;B	0.33238	0.403;0.281	B;B	0.29942	0.109;0.05	D	0.93524	0.6864	10	0.35671	T	0.21	.	15.8128	0.78578	0.0:0.0:1.0:0.0	.	2724;2724	P21817-2;P21817	.;RYR1_HUMAN	K	2724	ENSP00000352608:E2724K;ENSP00000347667:E2724K;ENSP00000354254:E2724K	ENSP00000347667:E2724K	E	+	1	0	RYR1	43687330	1.000000	0.71417	0.974000	0.42286	0.754000	0.42855	7.685000	0.84117	2.334000	0.79466	0.491000	0.48974	GAG	RYR1	-	NULL		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38995490	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38995490	G	A	38995490	3	1	45	1	0	0	0	0	1	0	0	0	13798	943	33	1	8372	1	RYR1	19	38995490	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	19545825	38995490	20133493	143	6268										
GMFG	9535	genome.wustl.edu	37	chr19	39826106	39826106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcattgtctgtctcttttcgGaagcggaatttcctcagctt	9	10	3	0	rs140200000		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:39826106G>T	ENST00000597595.1	-	2	277	c.69C>A	c.(67-69)ttC>ttA	p.F23L	GMFG_ENST00000600322.1_5'UTR|GMFG_ENST00000598034.1_Missense_Mutation_p.F23L|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000595636.1_Missense_Mutation_p.F23L|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000594700.1_Missense_Mutation_p.F23L|GMFG_ENST00000601387.1_Intron	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	23	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)	p.F23F(1)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTCTTTTCGGAAGCGGAATT	0.562																																																	1	Substitution - coding silent(1)	skin(1)											178	136	150					19																	39826106		2203	4300	6503	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.69C>A	19.37:g.39826106G>T	ENSP00000472249:p.Phe23Leu		Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.F23L	ENST00000597595.1	37	c.69	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038159	0.54896	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.18	3.14	0.36123	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.64402	D	0.000005	T	0.40694	0.1127	L	0.41824	1.3	0.49213	D	0.999763	B;B	0.13594	0.001;0.008	B;B	0.15870	0.002;0.014	T	0.12528	-1.0544	9	0.11794	T	0.64	-21.4547	6.3454	0.21347	0.222:0.0:0.778:0.0	.	23;23	O60234;Q6IB37	GMFG_HUMAN;.	L	23	.	ENSP00000253054:F23L	F	-	3	2	GMFG	44517946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.083000	0.30815	0.971000	0.38288	0.561000	0.74099	TTC	GMFG	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.562	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	G			39826106	-1	no_errors	ENST00000597595	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39826106	G	T	39826106	3	4	45	1	0	0	0	0	1	0	0	0	6509	1165	41	3	383	3	GMFG	19	39826106	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	830616	39826106	19302877	144	6269										
FCGBP	8857	genome.wustl.edu	37	chr19	40421395	40421395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	acgctgcagcgctcacccgcCgggcagctctgcttgtcgcg	13	17	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:40421395C>T	ENST00000221347.6	-	5	2533	c.2526G>A	c.(2524-2526)ccG>ccA	p.P842P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	842	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTCACCCGCCGGGCAGCTCT	0.687																																																	0													15	14	15					19																	40421395		2197	4295	6492	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2526G>A	19.37:g.40421395C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P842	ENST00000221347.6	37	c.2526	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWF_C,smart_Fol_N		0.687	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40421395	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.000	T	T	40421395	C	T	40421395	2	4	45	1	0	0	0	0	0	0	0	1	5796	639	23	2		2	FCGBP	19	40421395	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	595289	40421395	18707588	145	6270										
SLC17A7	57030	genome.wustl.edu	37	chr19	49934353	49934353	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccgttggagatgcccatgagGatgctggcgtagcgcggggc	18	10	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:49934353G>C	ENST00000221485.3	-	11	1479	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	SLC17A7_ENST00000543531.1_Missense_Mutation_p.I424M|SLC17A7_ENST00000600601.1_Missense_Mutation_p.I369M	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	436					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCATGAGGATGCTGGCGT	0.612																																																	0													94	76	82					19																	49934353		2203	4300	6503	SO:0001583	missense	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1308C>G	19.37:g.49934353G>C	ENSP00000221485:p.Ile436Met		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I436M	ENST00000221485.3	37	c.1308	CCDS12764.1	19	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339471	0.81911	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.55588	0.51;0.51	4.38	4.38	0.52667	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000015	T	0.72581	0.3478	M	0.82132	2.575	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74348	0.977;0.983	T	0.77346	-0.2622	10	0.87932	D	0	.	14.8148	0.70024	0.0:0.0:1.0:0.0	.	436;278	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	M	436;424	ENSP00000221485:I436M;ENSP00000441767:I424M	ENSP00000221485:I436M	I	-	3	3	SLC17A7	54626165	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.403000	0.44530	2.462000	0.83206	0.484000	0.47621	ATC	SLC17A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.612	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	G			49934353	-1	no_errors	ENST00000221485	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49934353	G	C	49934353	3	2	45	1	0	0	0	0	1	0	0	0	14452	1164	41	1	382	1	SLC17A7	19	49934353	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	9512958	49934353	9194630	146	6271										
PRKCG	5582	genome.wustl.edu	37	chr19	54406378	54406378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcgattggtggtcctttggaGttctgctgtatgagatgttg	14	5	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:54406378G>A	ENST00000263431.3	+	15	1909	c.1627G>A	c.(1627-1629)Gtt>Att	p.V543I	PRKCG_ENST00000542049.1_Missense_Mutation_p.V430I|PRKCG_ENST00000540413.1_Missense_Mutation_p.V543I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTCCTTTGGAGTTCTGCTGTA	0.537																																																	0													335	301	312					19																	54406378		2203	4300	6503	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1627G>A	19.37:g.54406378G>A	ENSP00000263431:p.Val543Ile		B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.V543I	ENST00000263431.3	37	c.1627	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860108	0.91433	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.27890	1.64;1.64;1.64	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41373	0.1156	N	0.17594	0.5	0.58432	D	0.999999	D;P;P	0.63046	0.992;0.791;0.722	D;B;P	0.77004	0.989;0.313;0.655	T	0.41484	-0.9506	9	0.72032	D	0.01	.	17.1095	0.86672	0.0:0.0:1.0:0.0	.	430;543;543	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	I	543;543;430	ENSP00000443493:V543I;ENSP00000263431:V543I;ENSP00000438090:V430I	ENSP00000263431:V543I	V	+	1	0	PRKCG	59098190	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.566000	0.98157	2.719000	0.93026	0.655000	0.94253	GTT	PRKCG	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.537	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	G	NM_002739		54406378	1	no_errors	ENST00000540413	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54406378	G	A	54406378	3	1	45	1	0	0	0	0	1	0	0	0	12539	1029	36	4	1685	4	PRKCG	19	54406378	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	4472025	54406378	4722605	147	6272										
ZNF582	147948	genome.wustl.edu	37	chr19	56895986	56895986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gatgttcaatcaactgtgagCttcgactaaaggccttctca	8	10	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:56895986C>A	ENST00000301310.4	-	5	958	c.800G>T	c.(799-801)aGc>aTc	p.S267I	ZNF582_ENST00000586929.1_Missense_Mutation_p.S267I|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAACTGTGAGCTTCGACTAAA	0.413																																					Ovarian(183;1887 2032 4349 30507 51343)												0													69	59	62					19																	56895986		2203	4300	6503	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.800G>T	19.37:g.56895986C>A	ENSP00000301310:p.Ser267Ile		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S267I	ENST00000301310.4	37	c.800	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996564	0.19043	.	.	ENSG00000018869	ENST00000301310	T	0.07800	3.16	5.18	-6.8	0.01709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000718	T	0.12689	0.0308	M	0.69248	2.105	0.09310	N	1	B;D	0.76494	0.046;0.999	B;P	0.60173	0.01;0.87	T	0.02411	-1.1163	10	0.20046	T	0.44	.	6.8117	0.23809	0.6054:0.1456:0.0:0.249	.	267;298	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	267	ENSP00000301310:S267I	ENSP00000301310:S267I	S	-	2	0	ZNF582	61587798	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.735000	0.00101	-1.299000	0.02344	-0.181000	0.13052	AGC	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	C	NM_144690		56895986	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56895986	C	A	56895986	3	1	45	1	0	0	0	0	1	0	0	0	18044	797	28	4	757	4	ZNF582	19	56895986	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	2489608	56895986	2232997	148	6273										
RRBP1	6238	genome.wustl.edu	37	chr20	17639306	17639306	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cctcttgctttggtgcctctGggctctgggccacatctgta	11	13	4	0	rs375871731		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:17639306G>T	ENST00000377813.1	-	3	2150	c.1847C>A	c.(1846-1848)cCa>cAa	p.P616Q	RRBP1_ENST00000360807.4_Missense_Mutation_p.P186Q|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.P186Q|RRBP1_ENST00000246043.4_Missense_Mutation_p.P616Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	616					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGGTGCCTCTGGGCTCTGGGC	0.483																																																	0													147	134	139					20																	17639306		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1847C>A	20.37:g.17639306G>T	ENSP00000367044:p.Pro616Gln		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.P616Q	ENST00000377813.1	37	c.1847		20	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.924954	0.00493	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	4.31	0.51392	.	0.242674	0.21529	N	0.073069	T	0.13798	0.0334	N	0.02802	-0.49	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12734	-1.0536	10	0.02654	T	1	-16.6036	11.406	0.49898	0.0:0.0:0.4389:0.5611	.	186	Q9P2E9-3	.	Q	186;616;186;616	ENSP00000354045:P186Q;ENSP00000367044:P616Q;ENSP00000367038:P186Q;ENSP00000246043:P616Q	ENSP00000246043:P616Q	P	-	2	0	RRBP1	17587306	0.361000	0.24972	0.996000	0.52242	0.113000	0.19764	0.072000	0.14617	1.019000	0.39547	-0.467000	0.05162	CCA	RRBP1	-	NULL		0.483	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17639306	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	0.971	T	T	17639306	G	T	17639306	3	4	45	1	0	0	0	0	1	0	0	0	13708	1348	47	4	2468	4	RRBP1	20	17639306	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		17639306	45386214	149	6274										
VSTM2L	128434	genome.wustl.edu	37	chr20	36572449	36572449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cccgggtgaagcccacggacGaaggcacctacgagtgccgc	14	15	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:36572449G>A	ENST00000373461.4	+	4	656	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	VSTM2L_ENST00000373458.3_Missense_Mutation_p.E120K|VSTM2L_ENST00000373459.4_Missense_Mutation_p.R63Q	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	137	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCCCACGGACGAAGGCACCTA	0.647																																																	0													57	39	45					20																	36572449		2203	4300	6503	SO:0001583	missense	128434			AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"Immunoglobulin superfamily / V-set domain containing"	16096	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 102"	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.409G>A	20.37:g.36572449G>A	ENSP00000362560:p.Glu137Lys		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E137K	ENST00000373461.4	37	c.409	CCDS13299.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.800878|5.800878	0.96960|0.96960	.|.	.|.	ENSG00000132821|ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944|ENST00000373459	T;T;T|.	0.67171|.	1.55;-0.25;1.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82618|0.82618	0.5076|0.5076	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.79108|.	0.992|.	D|D	0.83833|0.83833	0.0253|0.0253	10|6	0.54805|0.48119	T|T	0.06|0.1	-25.2071|-25.2071	18.2505|18.2505	0.90000|0.90000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137|.	Q96N03|.	VTM2L_HUMAN|.	K|Q	120;137;120|63	ENSP00000362557:E120K;ENSP00000362560:E137K;ENSP00000406537:E120K|.	ENSP00000362557:E120K|ENSP00000362558:R63Q	E|R	+|+	1|2	0|0	VSTM2L|VSTM2L	36005863|36005863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.727000|9.727000	0.98787|0.98787	2.550000|2.550000	0.86006|0.86006	0.462000|0.462000	0.41574|0.41574	GAA|CGA	VSTM2L	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.647	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM2L	HGNC	protein_coding	OTTHUMT00000079133.1	G			36572449	1	no_errors	ENST00000373461	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36572449	G	A	36572449	3	1	45	1	0	0	0	0	1	0	0	0	17261	1059	37	1	423	1	VSTM2L	20	36572449	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	18933143	36572449	26453071	150	6275										
SLC12A5	57468	genome.wustl.edu	37	chr20	44665926	44665926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	actacatgatttccaggtctCtgggcccagagtttgggggt	13	9	1	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:44665926C>G	ENST00000454036.2	+	6	632	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	SLC12A5_ENST00000372315.1_Missense_Mutation_p.L172V|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L172V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	195					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCAGGTCTCTGGGCCCAGA	0.602																																																	0													77	70	73					20																	44665926		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.583C>G	20.37:g.44665926C>G	ENSP00000387694:p.Leu195Val		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L195V	ENST00000454036.2	37	c.583	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539776	0.65085	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.99186	-5.53;-5.53;-5.53	4.79	2.86	0.33363	Amino acid permease domain (1);	0.000000	0.64402	D	0.000006	D	0.99465	0.9810	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98771	1.0728	10	0.87932	D	0	.	10.1777	0.42948	0.0:0.8389:0.0:0.1611	.	195;172;172	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	V	195;172;172	ENSP00000387694:L195V;ENSP00000361389:L172V;ENSP00000243964:L172V	ENSP00000243964:L172V	L	+	1	2	SLC12A5	44099333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.787000	0.62432	0.632000	0.30432	-0.150000	0.13652	CTG	SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.602	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44665926	1	no_errors	ENST00000454036	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44665926	C	G	44665926	3	3	45	1	0	0	0	0	1	0	0	0	14416	912	32	1	661	1	SLC12A5	20	44665926	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	8093477	44665926	18359594	151	6276										
C21orf29	54084	genome.wustl.edu	37	chr21	45945555	45945555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ccttcccggtggttggccacCgccaggaagtgctccccatc	11	17	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr21:45945555C>T	ENST00000323084.4	-	8	1382	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	TSPEAR_ENST00000397916.1_Silent_p.A371A|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	439					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGTTGGCCACCGCCAGGAAGT	0.612																																																	0													108	108	108					21																	45945555		2203	4300	6503	SO:0001819	synonymous_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1317G>A	21.37:g.45945555C>T				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.A439	ENST00000323084.4	37	c.1317	CCDS13712.1	21																																																																																			TSPEAR	-	pfam_EPTP,pfscan_EAR		0.612	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45945555	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	silent	SNP	0.696	T	T	45945555	C	T	45945555	2	4	45	1	0	0	0	0	0	0	0	1	2129	639	23	2		2	C21orf29	21	45945555	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		45945555	2184340	152	6277										
GAB4	128954	genome.wustl.edu	37	chr22	17445751	17445751	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ggagctggagtcaaaggtgtGgctgtcatgggaagaaggca	18	5	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:17445751G>T	ENST00000400588.1	-	8	1488	c.1381C>A	c.(1381-1383)Cac>Aac	p.H461N	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	461										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCAAAGGTGTGGCTGTCATGG	0.587																																																	0													126	133	131					22																	17445751		2179	4293	6472	SO:0001630	splice_region_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1380-1C>A	22.37:g.17445751G>T				Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H461N	ENST00000400588.1	37	c.1381	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	G	0	-2.705833	0.00096	.	.	ENSG00000215568	ENST00000400588	T	0.22336	1.96	1.92	0.88	0.19161	.	0.673920	0.15914	N	0.238465	T	0.14184	0.0343	L	0.38175	1.15	0.21579	N	0.999631	B	0.10296	0.003	B	0.12156	0.007	T	0.29549	-1.0008	10	0.21014	T	0.42	.	8.424	0.32718	0.0:0.2446:0.7554:0.0	.	461	Q2WGN9	GAB4_HUMAN	N	461	ENSP00000383431:H461N	ENSP00000383431:H461N	H	-	1	0	GAB4	15825751	1.000000	0.71417	0.137000	0.22149	0.003000	0.03518	2.749000	0.47492	0.378000	0.24764	-0.548000	0.04221	CAC	GAB4	-	NULL		0.587	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	G	XM_372882	Missense_Mutation	17445751	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	missense	SNP	0.882	T	T	17445751	G	T	17445751	5	4	45	1	0	0	0	0	0	0	1	0	6169	1362	47	4	355	4	GAB4	22	17445751	Splice_Site	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09		17445751	33858815	153	6278										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39479831	39479831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	cctgtgttatgaggtggagcGcatgcacaatgacacctggg	14	9	0	2			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:39479831G>T	ENST00000407997.3	+	5	1034	c.677G>T	c.(676-678)cGc>cTc	p.R226L	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R226L	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	226	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GAGGTGGAGCGCATGCACAAT	0.552																																																	0													118	96	103					22																	39479831		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.677G>T	22.37:g.39479831G>T	ENSP00000385057:p.Arg226Leu		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R226L	ENST00000407997.3	37	c.677	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.386744	0.01194	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	D;D	0.85013	-1.93;-1.93	1.7	-3.4	0.04853	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.80747	0.4682	L	0.58669	1.825	0.09310	N	1	P	0.43633	0.813	P	0.46479	0.518	T	0.69239	-0.5197	9	0.17369	T	0.5	.	6.284	0.21023	0.163:0.0:0.6202:0.2168	.	226	Q9HC16	ABC3G_HUMAN	L	226	ENSP00000413376:R226L;ENSP00000385057:R226L	ENSP00000385057:R226L	R	+	2	0	APOBEC3G	37809777	0.011000	0.17503	0.001000	0.08648	0.000000	0.00434	-0.430000	0.06973	-1.053000	0.03218	-1.237000	0.01550	CGC	APOBEC3G	-	pfam_APOBEC_N		0.552	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39479831	1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.005	T	T	39479831	G	T	39479831	3	4	45	1	0	0	0	0	1	0	0	0	794	1087	38	2	695	2	APOBEC3G	22	39479831	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	22034080	39479831	11824735	154	6279										
MGAT3	4248	genome.wustl.edu	37	chr22	39883520	39883520	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttctggaacaatgccccggtCacgccccaggccagccccga	10	18	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:39883520C>T	ENST00000341184.6	+	2	383	c.168C>T	c.(166-168)gtC>gtT	p.V56V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	56	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ATGCCCCGGTCACGCCCCAGG	0.652																																																	0													101	109	106					22																	39883520		2203	4300	6503	SO:0001819	synonymous_variant	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.168C>T	22.37:g.39883520C>T			A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	pfam_Glyco_trans_17	p.V56	ENST00000341184.6	37	c.168	CCDS13994.2	22																																																																																			MGAT3	-	NULL		0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	C	NM_002409		39883520	1	no_errors	ENST00000341184	ensembl	human	known	70_37	silent	SNP	0.913	T	T	39883520	C	T	39883520	2	4	45	1	0	0	0	0	0	0	0	1	9567	813	29	1		1	MGAT3	22	39883520	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	403689	39883520	11421046	155	6280										
MGAT3	4248	genome.wustl.edu	37	chr22	39883979	39883979	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gaggtgccgcgccgcgtcatCaacgccatcaacgtcaacca	10	16	4	0	rs369542837		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:39883979C>G	ENST00000341184.6	+	2	842	c.627C>G	c.(625-627)atC>atG	p.I209M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	209					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.I209M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCGCGTCATCAACGCCATCA	0.657																																																	1	Substitution - Missense(1)	lung(1)											40	32	35					22																	39883979		2203	4300	6503	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.627C>G	22.37:g.39883979C>G	ENSP00000345270:p.Ile209Met		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.I209M	ENST00000341184.6	37	c.627	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055054	0.55325	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.72894	2.215	0.38545	D	0.949322	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	9	0.72032	D	0.01	.	10.2296	0.43247	0.0:0.8535:0.0:0.1465	.	209	Q09327	MGAT3_HUMAN	M	209	.	ENSP00000345270:I209M	I	+	3	3	MGAT3	38213925	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.833000	0.39161	2.697000	0.92050	0.655000	0.94253	ATC	MGAT3	-	pfam_Glyco_trans_17		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	C	NM_002409		39883979	1	no_errors	ENST00000341184	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39883979	C	G	39883979	3	3	45	1	0	0	0	0	1	0	0	0	9567	816	29	1	629	1	MGAT3	22	39883979	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	459	39883979	11420587	156	6281										
GRAMD4	23151	genome.wustl.edu	37	chr22	47068805	47068805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	aacgctgcccgaggctgcgcGccaagtacgacacgccctat	11	16	0	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:47068805G>A	ENST00000406902.1	+	14	1363	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	GRAMD4_ENST00000361034.3_Missense_Mutation_p.A384T|GRAMD4_ENST00000408031.1_5'Flank			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	384					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAGGCTGCGCGCCAAGTACGA	0.597																																																	0													61	58	59					22																	47068805		2202	4300	6502	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1150G>A	22.37:g.47068805G>A	ENSP00000385689:p.Ala384Thr		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.A384T	ENST00000406902.1	37	c.1150	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	g	13.09	2.132113	0.37630	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.44482	0.92;0.92	4.63	4.63	0.57726	.	0.192789	0.34268	N	0.004105	T	0.22085	0.0532	N	0.12182	0.205	0.40213	D	0.977643	P	0.44776	0.843	B	0.35770	0.21	T	0.08785	-1.0705	10	0.13470	T	0.59	-26.0921	15.3516	0.74393	0.0:0.0:1.0:0.0	.	384	Q6IC98	GRAM4_HUMAN	T	384	ENSP00000385689:A384T;ENSP00000354313:A384T	ENSP00000354313:A384T	A	+	1	0	GRAMD4	45447469	1.000000	0.71417	0.935000	0.37517	0.410000	0.31052	3.957000	0.56730	2.294000	0.77228	0.563000	0.77884	GCC	GRAMD4	-	NULL		0.597	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	G	NM_015124		47068805	1	no_errors	ENST00000361034	ensembl	human	known	70_37	missense	SNP	0.992	A	A	47068805	G	A	47068805	3	1	45	1	0	0	0	0	1	0	0	0	6772	1087	38	2	1200	2	GRAMD4	22	47068805	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	7184826	47068805	4235761	157	6282										
SBF1	6305	genome.wustl.edu	37	chr22	50902823	50902823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gttgcgcacaacctccagccGccgggcgctgttgacatgca	12	15	0	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:50902823G>A	ENST00000390679.3	-	15	1868	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	SBF1_ENST00000348911.6_Missense_Mutation_p.R563W|SBF1_ENST00000380817.3_Missense_Mutation_p.R562W			O95248	MTMR5_HUMAN	SET binding factor 1	562					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTCCAGCCGCCGGGCGCTG	0.637																																																	0													59	67	64					22																	50902823		2105	4211	6316	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1684C>T	22.37:g.50902823G>A	ENSP00000375097:p.Arg562Trp		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R562W	ENST00000390679.3	37	c.1684		22	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996908	0.54147	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.57595	0.39;0.39;0.39	4.33	0.623	0.17654	.	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.73332	-0.4016	10	0.87932	D	0	.	12.5995	0.56489	0.0:0.0:0.5697:0.4303	.	562;563;562	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	W	562;563;573;572;562	ENSP00000370196:R562W;ENSP00000252027:R563W;ENSP00000375097:R562W	ENSP00000336522:R572W	R	-	1	2	SBF1	49249689	0.785000	0.28726	0.816000	0.32577	0.406000	0.30931	0.551000	0.23361	0.399000	0.25367	0.462000	0.41574	CGG	SBF1	-	pfam_SBF2		0.637	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		G			50902823	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	0.986	A	A	50902823	G	A	50902823	3	1	45	1	0	0	0	0	1	0	0	0	13888	1086	38	2	4105	2	SBF1	22	50902823	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	3834018	50902823	401743	158	6283										
CPT1B	1375	genome.wustl.edu	37	chr22	51014666	51014666	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gacttgagcaccaggtatttCtgcagcctgggggcagtctt	13	10	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:51014666C>T	ENST00000360719.2	-	6	797	c.660G>A	c.(658-660)caG>caA	p.Q220Q	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.Q186Q|CPT1B_ENST00000440709.1_Silent_p.Q220Q|CPT1B_ENST00000395650.2_Silent_p.Q220Q|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000434492.2_Silent_p.Q17Q|CPT1B_ENST00000312108.7_Silent_p.Q220Q|CPT1B_ENST00000405237.3_Silent_p.Q220Q	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	220					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGGTATTTCTGCAGCCTGG	0.552											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)												0													94	89	91					22																	51014666		2203	4300	6503	SO:0001819	synonymous_variant	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.660G>A	22.37:g.51014666C>T		974	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	pfam_Carn_acyl_trans	p.Q220	ENST00000360719.2	37	c.660	CCDS14098.1	22																																																																																			CPT1B	-	pfam_Carn_acyl_trans		0.552	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	C	NM_152246		51014666	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51014666	C	T	51014666	2	4	45	1	0	0	0	0	0	0	0	1	3837	912	32	1		1	CPT1B	22	51014666	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	111843	51014666	289900	159	6284										
HUWE1	10075	genome.wustl.edu	37	chrX	53643957	53643957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gatcagaacttctcctcctcCgcatggctgggaggtaatct	10	12	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:53643957C>T	ENST00000342160.3	-	20	2388	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.R644Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.R644Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	644					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTCCTCCGCATGGCTGG	0.418																																																	0													44	41	42					X																	53643957		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1931G>A	X.37:g.53643957C>T	ENSP00000340648:p.Arg644Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R644Q	ENST00000342160.3	37	c.1931	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.382447	0.95967	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41400	1.0;1.0;1.0	5.45	5.45	0.79879	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.60894	0.2304	L	0.53729	1.69	0.51233	D	0.999913	D	0.89917	1.0	D	0.73380	0.98	T	0.63409	-0.6644	10	0.72032	D	0.01	.	17.0476	0.86508	0.0:1.0:0.0:0.0	.	644	Q7Z6Z7	HUWE1_HUMAN	Q	644	ENSP00000340648:R644Q;ENSP00000262854:R644Q;ENSP00000218328:R644Q	ENSP00000218328:R644Q	R	-	2	0	HUWE1	53660682	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.421000	0.80204	2.289000	0.77006	0.594000	0.82650	CGG	HUWE1	-	pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold		0.418	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53643957	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53643957	C	T	53643957	3	4	45	1	0	0	0	0	1	0	0	0	7481	652	23	2	11449	2	HUWE1	23	53643957	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09		53643957	101626603	160	6285										
USP51	158880	genome.wustl.edu	37	chrX	55515232	55515232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	tcggcttcacgtctcgaagaCgccttcgtagcccccgccgc	10	18	2	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:55515232C>T	ENST00000500968.3	-	2	223	c.141G>A	c.(139-141)gcG>gcA	p.A47A	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	47					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTCTCGAAGACGCCTTCGTAG	0.667																																																	0													25	24	24					X																	55515232		2202	4300	6502	SO:0001819	synonymous_variant	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.141G>A	X.37:g.55515232C>T			Q8IWJ8	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.A47	ENST00000500968.3	37	c.141	CCDS14370.1	X																																																																																			USP51	-	NULL		0.667	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55515232	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55515232	C	T	55515232	2	4	45	1	0	0	0	0	0	0	0	1	17114	523	19	2		2	USP51	23	55515232	Silent	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	1871275	55515232	99755328	161	6286										
ARHGEF9	23229	genome.wustl.edu	37	chrX	62898257	62898257	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	atactttaggagctcagccaActgtaagggatacttgcaga	10	8	1	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:62898257A>T	ENST00000253401.6	-	5	1557	c.757T>A	c.(757-759)Ttg>Atg	p.L253M	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L251M|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.L24M|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L151M|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L200M|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L232M	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGCTCAGCCAACTGTAAGGGA	0.478																																																	0													72	53	59					X																	62898257		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.757T>A	X.37:g.62898257A>T	ENSP00000253401:p.Leu253Met		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L253M	ENST00000253401.6	37	c.757	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419584	0.62622	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.08	2.61	0.31194	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	D	0.91771	0.7397	H	0.94925	3.6	0.51482	D	0.999924	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89196	0.3554	10	0.87932	D	0	.	6.529	0.22316	0.5383:0.0:0.4617:0.0	.	200;251;253;253	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	M	253;251;200;151;24;232	ENSP00000253401:L253M;ENSP00000364012:L251M;ENSP00000399994:L200M;ENSP00000364004:L151M;ENSP00000404478:L24M;ENSP00000364006:L232M	ENSP00000253401:L253M	L	-	1	2	ARHGEF9	62814982	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.318000	0.33643	0.159000	0.19401	0.486000	0.48141	TTG	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.478	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	A			62898257	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62898257	A	T	62898257	3	4	45	1	0	0	0	0	1	0	0	0	912	40	2	5	817	5	ARHGEF9	23	62898257	Missense_Mutation	SNP	A	TCGA-C5-A7CL-01A-11D-A32I-09	7383025	62898257	92372303	162	6287										
DOCK11	139818	genome.wustl.edu	37	chrX	117695418	117695418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	ttctcaattcctataaagatGagaaaaattcaaaagaatcg	5	6	2	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:117695418G>A	ENST00000276202.7	+	7	694	c.631G>A	c.(631-633)Gag>Aag	p.E211K	DOCK11_ENST00000276204.6_Missense_Mutation_p.E211K	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	211	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTATAAAGATGAGAAAAATTC	0.383																																																	0													106	97	100					X																	117695418		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.631G>A	X.37:g.117695418G>A	ENSP00000276202:p.Glu211Lys		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E211K	ENST00000276202.7	37	c.631	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	g	35	5.432442	0.96150	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.74315	-0.83;-0.83	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.128774	0.56097	D	0.000038	D	0.85305	0.5666	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.86167	0.1597	10	0.59425	D	0.04	-2.7396	18.1276	0.89591	0.0:0.0:1.0:0.0	.	211	Q5JSL3	DOC11_HUMAN	K	211	ENSP00000276204:E211K;ENSP00000276202:E211K	ENSP00000276202:E211K	E	+	1	0	DOCK11	117579446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.326000	0.96389	2.405000	0.81733	0.417000	0.27973	GAG	DOCK11	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117695418	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117695418	G	A	117695418	3	1	45	1	0	0	0	0	1	0	0	0	4696	1291	45	1	657	1	DOCK11	23	117695418	Missense_Mutation	SNP	G	TCGA-C5-A7CL-01A-11D-A32I-09	54797161	117695418	37575142	163	6288										
UPF3B	65109	genome.wustl.edu	37	chrX	118971800	118971800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcctattgattctgtactttCagccttctttcctttatccc	4	13	3	1			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:118971800C>G	ENST00000276201.2	-	10	1291	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.E395Q	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	408	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTGTACTTTCAGCCTTCTTT	0.373																																																	0													189	161	171					X																	118971800		2203	4299	6502	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1222G>C	X.37:g.118971800C>G	ENSP00000276201:p.Glu408Gln		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E408Q	ENST00000276201.2	37	c.1222	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366816	0.61513	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.78816	-1.21;-1.21	5.83	4.97	0.65823	.	0.272850	0.46758	D	0.000280	T	0.76069	0.3936	L	0.52364	1.645	0.39176	D	0.962683	P;P	0.40731	0.728;0.608	P;B	0.44359	0.447;0.261	T	0.76575	-0.2909	10	0.41790	T	0.15	.	12.9013	0.58126	0.0:0.921:0.0:0.079	.	395;408	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	Q	408;395	ENSP00000276201:E408Q;ENSP00000245418:E395Q	ENSP00000276201:E408Q	E	-	1	0	UPF3B	118855828	0.998000	0.40836	0.662000	0.29724	0.981000	0.71138	4.142000	0.58044	1.234000	0.43709	0.526000	0.51066	GAA	UPF3B	-	NULL		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118971800	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	0.959	G	G	118971800	C	G	118971800	3	3	45	1	0	0	0	0	1	0	0	0	17037	835	29	1	237	1	UPF3B	23	118971800	Missense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	1276382	118971800	36298760	164	6289										
ATP2B3	492	genome.wustl.edu	37	chrX	152807877	152807877	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gtctgaccacgtgcgcaagtCagctgacaaagatcccatgc	10	13	2	3			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:152807877C>G	ENST00000349466.2	+	5	1087	c.761C>G	c.(760-762)tCa>tGa	p.S254*	ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000370186.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.S254*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	254					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCGCAAGTCAGCTGACAAA	0.652																																																	0													93	63	73					X																	152807877		2203	4300	6503	SO:0001587	stop_gained	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.761C>G	X.37:g.152807877C>G	ENSP00000343886:p.Ser254*		B7WNR8|B7WNY5|Q12995|Q16858	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.S254*	ENST00000349466.2	37	c.761	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.326328	0.99137	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	.	.	.	5.45	5.45	0.79879	.	0.326237	0.28724	N	0.014352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.1074	16.9818	0.86329	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000263519:S254X	S	+	2	0	ATP2B3	152461071	0.996000	0.38824	0.891000	0.34965	0.650000	0.38633	7.776000	0.85560	2.273000	0.75805	0.513000	0.50165	TCA	ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_ion-transptr		0.652	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152807877	1	no_errors	ENST00000263519	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	152807877	C	G	152807877	4	3	45	1	0	0	0	0	0	1	0	0	1142	838	29	1	775	1	ATP2B3	23	152807877	Nonsense_Mutation	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	33836077	152807877	2462683	165	6290										
ARHGAP4	393	genome.wustl.edu	37	chrX	153176375	153176375	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.343373493975904	57	1.07935521818971e-18	3.72287275565964	5.98509687034277	2.50899640143942	0.265072570568429	0.516296756782419	42	gcccgccctgcccgtccccaCctctctcgaaggcatcacgg	9	21	2	0			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:153176375C>G	ENST00000350060.5	-	14	1723		c.e14+1		ARHGAP4_ENST00000537206.1_Splice_Site|ARHGAP4_ENST00000370028.3_Splice_Site|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Splice_Site|ARHGAP4_ENST00000393721.1_Splice_Site	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4						apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|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)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTCCCCACCTCTCTCGAA	0.677											OREG0003617	type=REGULATORY REGION|Gene=ARHGAP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													11	10	10					X																	153176375		2031	3980	6011	SO:0001630	splice_region_variant	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1681+1G>C	X.37:g.153176375C>G		1753	Q14144|Q86UY3	Splice_Site	SNP	-	e14+1	ENST00000350060.5	37	c.1681+1	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	c	11.53	1.664997	0.29604	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000454164	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0668	0.72002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP4	152829569	.	.	0.998000	0.56505	0.162000	0.22319	.	.	2.058000	0.61347	0.525000	0.51046	.	ARHGAP4	-	-		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666	Intron	153176375	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	153176375	C	G	153176375	5	3	45	1	0	0	0	0	0	0	1	0	885	521	18	4	1194	4	ARHGAP4	23	153176375	Splice_Site	SNP	C	TCGA-C5-A7CL-01A-11D-A32I-09	368498	153176375	2094185	166	6291										
ANGPTL7	10218	genome.wustl.edu	37	chr1	11249851	11249851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	actgaacaagaagcaggagaGggactgggtcagcgtggtca	16	7	2	3			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:11249851G>T	ENST00000376819.3	+	1	454	c.215G>T	c.(214-216)aGg>aTg	p.R72M	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	72					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCAGGAGAGGGACTGGGTC	0.572																																																	0													96	92	94					1																	11249851		2203	4300	6503	SO:0001583	missense	10218			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.215G>T	1.37:g.11249851G>T	ENSP00000366015:p.Arg72Met		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R72M	ENST00000376819.3	37	c.215	CCDS128.1	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766473	0.31228	.	.	ENSG00000171819	ENST00000376819	T	0.55760	0.5	5.07	0.778	0.18543	.	1.256760	0.05291	N	0.521185	T	0.33265	0.0857	N	0.14661	0.345	0.09310	N	1	P	0.36495	0.556	B	0.34038	0.174	T	0.22765	-1.0207	10	0.48119	T	0.1	.	5.2242	0.15385	0.3138:0.2426:0.4436:0.0	.	72	O43827	ANGL7_HUMAN	M	72	ENSP00000366015:R72M	ENSP00000366015:R72M	R	+	2	0	ANGPTL7	11172438	0.022000	0.18835	0.795000	0.32087	0.941000	0.58515	0.439000	0.21575	-0.048000	0.13401	0.655000	0.94253	AGG	ANGPTL7	-	NULL		0.572	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL7	HGNC	protein_coding	OTTHUMT00000005564.1	G	NM_021146		11249851	1	no_errors	ENST00000376819	ensembl	human	known	70_37	missense	SNP	0.008	T	T	11249851	G	T	11249851	3	4	46	1	0	0	0	0	1	0	0	0	619	1000	35	4	217	4	ANGPTL7	1	11249851	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		11249851	238000770	1	6292										
PRAMEF22	653606	genome.wustl.edu	37	chr1	13038327	13038327	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	tcctgcccttgctgtggcacGtcgcccactgagcaactgga	11	15	0	1	rs199598633		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:13038327G>T	ENST00000376187.1	+	3	1392	c.1392G>T	c.(1390-1392)acG>acT	p.T464T	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GCTGTGGCACGTCGCCCACTG	0.527																																																	0													1	1	1					1																	13038327		265	525	790	SO:0001819	synonymous_variant	653606					1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.1392G>T	1.37:g.13038327G>T			A6NMM3	Silent	SNP	NULL	p.T464	ENST00000376187.1	37	c.1392	CCDS41256.1	1																																																																																			PRAMEF22	-	NULL		0.527	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	HGNC	protein_coding	OTTHUMT00000158511.1	G	NM_001100631		13038327	1	no_errors	ENST00000376187	ensembl	human	known	70_37	silent	SNP	0.000	T	T	13038327	G	T	13038327	2	4	46	1	0	0	0	0	0	0	0	1	12463	1132	40	2		2	PRAMEF22	1	13038327	Silent	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	1788476	13038327	236212294	2	6293										
CYB561D1	284613	genome.wustl.edu	37	chr1	110038388	110038388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	atgttcacagttctgcctctGcatggctgaagccatcctac	8	13	3	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:110038388G>T	ENST00000420578.2	+	3	237	c.197G>T	c.(196-198)tGc>tTc	p.C66F	CYB561D1_ENST00000527072.1_Silent_p.L53L|CYB561D1_ENST00000393709.3_Missense_Mutation_p.C9F|CYB561D1_ENST00000533024.1_Missense_Mutation_p.A22S|CYB561D1_ENST00000369868.3_Missense_Mutation_p.C88F|CYB561D1_ENST00000528785.1_Missense_Mutation_p.C66F|CYB561D1_ENST00000310611.4_Missense_Mutation_p.A101S|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000430195.2_Silent_p.L126L			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	66	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCTGCCTCTGCATGGCTGAA	0.532																																																	0													185	183	183					1																	110038388		2203	4300	6503	SO:0001583	missense	284613			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"Cytochrome b genes"	26804	protein-coding gene	gene with protein product			"cytochrome b-561 domain containing 1"			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.197G>T	1.37:g.110038388G>T	ENSP00000413530:p.Cys66Phe		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.C88F	ENST00000420578.2	37	c.263	CCDS800.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.846950|2.846950	0.51164|0.51164	.|.	.|.	ENSG00000174151|ENSG00000174151	ENST00000533024;ENST00000310611|ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	.|T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04	5.25|5.25	4.33|4.33	0.51752|0.51752	.|Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	.|0.051095	.|0.85682	.|D	.|0.000000	T|T	0.49898|0.49898	0.1584|0.1584	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D;B;B;B	0.33940|0.71674	0.433|0.998;0.0;0.0;0.001	B|D;B;B;B	0.26310|0.65443	0.068|0.935;0.004;0.001;0.002	T|T	0.53507|0.53507	-0.8429|-0.8429	7|9	0.87932|0.46703	D|T	0|0.11	-16.9498|-16.9498	12.5376|12.5376	0.56150|0.56150	0.0:0.0:0.833:0.167|0.0:0.0:0.833:0.167	.|.	101|88;66;9;28	Q8N8Q1-2|Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.|.;C56D1_HUMAN;.;.	S|F	22;101|9;66;66;88	.|ENSP00000377312:C9F;ENSP00000413530:C66F;ENSP00000434344:C66F;ENSP00000358884:C88F	ENSP00000309324:A101S|ENSP00000358884:C88F	A|C	+|+	1|2	0|0	CYB561D1|CYB561D1	109839911|109839911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	4.248000|4.248000	0.58760|0.58760	1.426000|1.426000	0.47256|0.47256	-0.324000|-0.324000	0.08512|0.08512	GCA|TGC	CYB561D1	-	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM		0.532	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYB561D1	HGNC	protein_coding	OTTHUMT00000030384.1	G	NM_182580		110038388	1	no_errors	ENST00000369868	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110038388	G	T	110038388	3	4	46	1	0	0	0	0	1	0	0	0	4125	1319	46	4	392	4	CYB561D1	1	110038388	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	97000061	110038388	139212233	3	6294										
ABCB11	8647	genome.wustl.edu	37	chr2	169787297	169787297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	aatcgacactgagagaccatTcagaacttgcgagtcaggtc	10	10	2	3			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr2:169787297T>A	ENST00000263817.6	-	25	3413	c.3289A>T	c.(3289-3291)Aat>Tat	p.N1097Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1097	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAGAGACCATTCAGAACTTGC	0.453																																																	0													76	72	73					2																	169787297		1997	4160	6157	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3289A>T	2.37:g.169787297T>A	ENSP00000263817:p.Asn1097Tyr		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.N1097Y	ENST00000263817.6	37	c.3289	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772391	0.69992	.	.	ENSG00000073734	ENST00000263817	D	0.94280	-3.39	6.08	6.08	0.98989	ABC transporter-like (1);	0.167192	0.64402	D	0.000004	D	0.95856	0.8651	M	0.66378	2.025	0.80722	D	1	D;D	0.60160	0.987;0.987	D;P	0.63033	0.91;0.851	D	0.96153	0.9109	10	0.87932	D	0	.	16.643	0.85134	0.0:0.0:0.0:1.0	.	539;1097	B4DZQ8;O95342	.;ABCBB_HUMAN	Y	1097	ENSP00000263817:N1097Y	ENSP00000263817:N1097Y	N	-	1	0	ABCB11	169495543	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.997000	0.88414	2.330000	0.79161	0.533000	0.62120	AAT	ABCB11	-	pfscan_ABC_transporter-like		0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	T	NM_003742		169787297	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	169787297	T	A	169787297	3	1	46	1	0	0	0	0	1	0	0	0	42	1783	62	5	692	5	ABCB11	2	169787297	Missense_Mutation	SNP	T	TCGA-C5-A7CM-01A-11D-A33O-09		169787297	73412076	4	6295										
ARMC9	80210	genome.wustl.edu	37	chr2	232141480	232141480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	gctcatgaacctctgcctccGcagcacaggtctcagccccg	9	18	3	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr2:232141480G>A	ENST00000349938.4	+	15	1660	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	489						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTCTGCCTCCGCAGCACAGGT	0.532																																																	0													111	102	105					2																	232141480		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1466G>A	2.37:g.232141480G>A	ENSP00000258417:p.Arg489His		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R489H	ENST00000349938.4	37	c.1466	CCDS2484.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231500|4.231500	0.79688|0.79688	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000424740|ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447	.|T;T	.|0.50277	.|2.09;0.75	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58452|0.58452	0.2123|0.2123	L|L	0.49513|0.49513	1.565|1.565	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.59767	.|0.986	.|P	.|0.56612	.|0.802	T|T	0.57033|0.57033	-0.7880|-0.7880	5|10	.|0.42905	.|T	.|0.14	-20.6684|-20.6684	17.6598|17.6598	0.88189|0.88189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|489	.|Q7Z3E5	.|ARMC9_HUMAN	T|H	192|489;489;206;131	.|ENSP00000258417:R489H;ENSP00000392086:R206H	.|ENSP00000258417:R489H	A|R	+|+	1|2	0|0	ARMC9|ARMC9	231849724|231849724	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.419000|0.419000	0.31324|0.31324	8.640000|8.640000	0.91028|0.91028	2.472000|2.472000	0.83506|0.83506	0.563000|0.563000	0.77884|0.77884	GCA|CGC	ARMC9	-	superfamily_ARM-type_fold		0.532	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	G	NM_025139		232141480	1	no_errors	ENST00000349938	ensembl	human	known	70_37	missense	SNP	1.000	A	A	232141480	G	A	232141480	3	1	46	1	0	0	0	0	1	0	0	0	959	1087	38	2	1520	2	ARMC9	2	232141480	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	62354183	232141480	11057893	5	6296										
CCR4	1233	genome.wustl.edu	37	chr3	32994926	32994926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	agttaaaaaatgaaccccacGgatatagcagacaccaccct	6	12	0	2			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr3:32994926G>A	ENST00000330953.5	+	2	180	c.12G>A	c.(10-12)acG>acA	p.T4T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	4					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGAACCCCACGGATATAGCAG	0.468																																																	0													62	61	61					3																	32994926		2203	4300	6503	SO:0001819	synonymous_variant	1233			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.12G>A	3.37:g.32994926G>A			Q9ULY6|Q9ULY7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.T4	ENST00000330953.5	37	c.12	CCDS2656.1	3																																																																																			CCR4	-	NULL		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	G			32994926	1	no_errors	ENST00000330953	ensembl	human	known	70_37	silent	SNP	0.003	A	A	32994926	G	A	32994926	2	1	46	1	0	0	0	0	0	0	0	1	2948	1103	39	2		2	CCR4	3	32994926	Silent	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		32994926	165027504	6	6297										
PLSCR5	389158	genome.wustl.edu	37	chr3	146318092	146318092	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	cacctggcttaaatattctaGaccaggagggagactgactg	11	9	1	3			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr3:146318092G>C	ENST00000443512.1	-	2	1175	c.172C>G	c.(172-174)Cta>Gta	p.L58V	PLSCR5_ENST00000482567.1_Intron|PLSCR5_ENST00000492200.1_Missense_Mutation_p.L58V	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	58										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AAATATTCTAGACCAGGAGGG	0.428																																																	0													35	35	35					3																	146318092		1822	4076	5898	SO:0001583	missense	389158			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.172C>G	3.37:g.146318092G>C	ENSP00000390111:p.Leu58Val		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.L58V	ENST00000443512.1	37	c.172	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134344	0.56828	.	.	ENSG00000231213	ENST00000492200;ENST00000443512	T;T	0.29397	1.57;1.57	5.89	3.15	0.36227	.	.	.	.	.	T	0.65386	0.2686	H	0.98199	4.17	0.26979	N	0.965415	D	0.89917	1.0	D	0.97110	1.0	T	0.58951	-0.7545	9	0.72032	D	0.01	-6.9742	4.7237	0.12931	0.2298:0.1661:0.6041:0.0	.	58	A0PG75	PLS5_HUMAN	V	58	ENSP00000417184:L58V;ENSP00000390111:L58V	ENSP00000390111:L58V	L	-	1	2	PLSCR5	147800782	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.478000	0.45189	0.843000	0.35070	-0.126000	0.14955	CTA	PLSCR5	-	pfam_Scramblase		0.428	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1	G	XM_371670		146318092	-1	no_errors	ENST00000443512	ensembl	human	known	70_37	missense	SNP	1.000	C	C	146318092	G	C	146318092	3	2	46	1	0	0	0	0	1	0	0	0	12137	933	33	1	667	1	PLSCR5	3	146318092	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	113323166	146318092	51704338	7	6298										
CAPSL	133690	genome.wustl.edu	37	chr5	35921161	35921161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	tttcaatggggtcggtggccGtggtgagctttttcttggcc	15	8	2	1	rs200635899		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:35921161G>A	ENST00000397367.2	-	2	188	c.62C>T	c.(61-63)aCg>aTg	p.T21M	CAPSL_ENST00000397366.1_Missense_Mutation_p.T21M|CAPSL_ENST00000514524.1_Missense_Mutation_p.T21M	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	21						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GTCGGTGGCCGTGGTGAGCTT	0.597																																																	0								G	MET/THR,MET/THR	0,4406		0,0,2203	110	95	100		62,62	1.5	0.6	5		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CAPSL	NM_144647.3,NM_001042625.1	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	21/209,21/209	35921161	1,13005	2203	4300	6503	SO:0001583	missense	133690			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"EF-hand domain containing"	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.62C>T	5.37:g.35921161G>A	ENSP00000380524:p.Thr21Met			Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.T21M	ENST00000397367.2	37	c.62	CCDS3912.2	5	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374468	0.24857	0.0	1.16E-4	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;D	0.83673	-1.64;-1.64;-1.74;-1.75	4.8	1.52	0.23074	.	0.640249	0.16352	N	0.218200	T	0.71230	0.3315	L	0.40543	1.245	0.09310	N	1	B	0.31290	0.318	B	0.23716	0.048	T	0.59621	-0.7420	10	0.42905	T	0.14	-4.8281	7.4911	0.27462	0.0906:0.0:0.5305:0.379	.	21	Q8WWF8	CAPSL_HUMAN	M	21	ENSP00000380524:T21M;ENSP00000380523:T21M;ENSP00000424806:T21M;ENSP00000421018:T21M	ENSP00000380523:T21M	T	-	2	0	CAPSL	35956918	0.072000	0.21174	0.593000	0.28771	0.822000	0.46500	0.784000	0.26816	0.443000	0.26582	0.563000	0.77884	ACG	CAPSL	-	NULL		0.597	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPSL	HGNC	protein_coding	OTTHUMT00000253772.2	G	NM_144647		35921161	-1	no_errors	ENST00000397366	ensembl	human	known	70_37	missense	SNP	0.000	A	A	35921161	G	A	35921161	3	1	46	1	0	0	0	0	1	0	0	0	2644	1145	40	2	580	2	CAPSL	5	35921161	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		35921161	144994099	8	6299										
DIMT1L	27292	genome.wustl.edu	37	chr5	61688793	61688793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	cttgtttttcctaacaaaggTtatccttactagaccatccc	4	12	0	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:61688793T>G	ENST00000199320.4	-	9	848	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	DIMT1_ENST00000506390.1_Missense_Mutation_p.T230P|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	230						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CTAACAAAGGTTATCCTTACT	0.343																																																	0													140	133	135					5																	61688793		2202	4300	6502	SO:0001583	missense	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.688A>C	5.37:g.61688793T>G	ENSP00000199320:p.Thr230Pro		O76025|Q9BU77|Q9UES1	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.T230P	ENST00000199320.4	37	c.688	CCDS3981.1	5	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972658	0.74246	.	.	ENSG00000086189	ENST00000199320;ENST00000506390	T;T	0.30182	1.54;1.54	5.68	5.68	0.88126	.	0.045024	0.85682	D	0.000000	T	0.30696	0.0773	L	0.40543	1.245	0.36045	D	0.840365	P	0.41475	0.751	P	0.46850	0.529	T	0.43442	-0.9391	10	0.72032	D	0.01	-3.3698	6.3276	0.21253	0.0:0.1924:0.0:0.8076	.	230	Q9UNQ2	DIM1_HUMAN	P	230	ENSP00000199320:T230P;ENSP00000421754:T230P	ENSP00000199320:T230P	T	-	1	0	DIMT1L	61724550	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.944000	0.56629	2.296000	0.77279	0.482000	0.46254	ACC	DIMT1	-	pfam_rRNA_Ade_methylase_transferase,tigrfam_rRNA_adenine_dimethylase		0.343	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	T	NM_014473		61688793	-1	no_errors	ENST00000199320	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61688793	T	G	61688793	3	3	46	1	0	0	0	0	1	0	0	0	4533	1725	60	5	269	5	DIMT1L	5	61688793	Missense_Mutation	SNP	T	TCGA-C5-A7CM-01A-11D-A33O-09	25767632	61688793	119226467	9	6300										
CD14	929	genome.wustl.edu	37	chr5	140011843	140011843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	acacctgccgccgccagtgcGgcgcacacgcctgtgggcgt	14	17	0	0			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:140011843G>A	ENST00000302014.6	-	2	1355	c.726C>T	c.(724-726)gcC>gcT	p.A242A	CD14_ENST00000401743.2_Silent_p.A242A	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	242					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCAGTGCGGCGCACACGC	0.647																																																	0													31	35	34					5																	140011843		2199	4291	6490	SO:0001819	synonymous_variant	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.726C>T	5.37:g.140011843G>A			Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.A242	ENST00000302014.6	37	c.726	CCDS4232.1	5																																																																																			CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.647	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	G	NM_000591		140011843	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140011843	G	A	140011843	2	1	46	1	0	0	0	0	0	0	0	1	2969	1103	39	2		2	CD14	5	140011843	Silent	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	78323050	140011843	40903417	10	6301										
ID4	3400	genome.wustl.edu	37	chr6	19838106	19838108	+	In_Frame_Del	DEL	GCG	GCG	-													0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	gcctgggtggctccgcagccGcggcggcggcggcggcggca							TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:19838106_19838108delGCG	ENST00000378700.3	+	1	490_492	c.121_123delGCG	c.(121-123)gcgdel	p.A48del	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	48	Poly-Ala.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CTCCGCAGCCgcggcggcggcgg	0.788																																					Esophageal Squamous(13;105 518 19978 28644 46870)												0										0,152		0,0,76						-2.7	0.9			1	16,642		6,4,319	no	coding	ID4	NM_001546.2		6,4,395	A1A1,A1R,RR		2.4316,0.0,1.9753				16,794				SO:0001651	inframe_deletion	3400			U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"Basic helix-loop-helix proteins"	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.121_123delGCG	6.37:g.19838115_19838117delGCG	ENSP00000367972:p.Ala48del		Q13005	In_Frame_Del	DEL	pfam_HLH_dom,superfamily_HLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_HLH_dom,pfscan_HLH_dom	p.A44in_frame_del	ENST00000378700.3	37	c.121_123	CCDS4544.1	6																																																																																			ID4	-	superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.788	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID4	HGNC	protein_coding	OTTHUMT00000039979.1	GCG	NM_001546		19838108	1	no_errors	ENST00000378700	ensembl	human	known	70_37	in_frame_del	DEL	0.988:0.989:0.984	-	-	19838108	GCG	-	19838106	7	5	46	1	0	1	0	1	0	0	0	0	7512	1087	38	0	123	0	ID4	6	19838106	In_Frame_Del	DEL	GCG	TCGA-C5-A7CM-01A-11D-A33O-09		19838106	151276961	11	6302										
GNL1	2794	genome.wustl.edu	37	chr6	30514892	30514892	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	aggcacatggaactcaccttCacagatgtcccaggcacacc	8	15	2	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:30514892C>T	ENST00000376621.3	-	10	2408	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	480					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTCACCTTCACAGATGTCC	0.622																																																	0													103	108	106					6																	30514892		1511	2709	4220	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1438G>A	6.37:g.30514892C>T	ENSP00000365806:p.Glu480Lys		B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain	p.E480K	ENST00000376621.3	37	c.1438	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.662575	0.96734	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.73430	2.235	0.80722	D	1	D;D;B	0.67145	0.996;0.996;0.322	D;P;B	0.65684	0.937;0.847;0.054	T	0.52034	-0.8629	10	0.12766	T	0.61	.	15.3078	0.74008	0.0:1.0:0.0:0.0	.	478;277;480	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	K	480;302;277	ENSP00000365806:E480K	ENSP00000365806:E480K	E	-	1	0	GNL1	30622871	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.128000	0.71650	2.592000	0.87571	0.555000	0.69702	GAA	GNL1	-	NULL		0.622	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	C			30514892	-1	no_errors	ENST00000376621	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30514892	C	T	30514892	3	4	46	1	0	0	0	0	1	0	0	0	6554	835	29	1	397	1	GNL1	6	30514892	Missense_Mutation	SNP	C	TCGA-C5-A7CM-01A-11D-A33O-09	10676786	30514892	140600175	12	6303										
PCLO	27445	genome.wustl.edu	37	chr7	82544797	82544797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	tgcttgtttttcaagtgtgaGtctactgatgctatacttct	8	7	3	2			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr7:82544797G>A	ENST00000333891.9	-	7	12842	c.12505C>T	c.(12505-12507)Ctc>Ttc	p.L4169F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4169F|PCLO_ENST00000437081.1_Missense_Mutation_p.L889F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAAGTGTGAGTCTACTGATG	0.378																																																	0													143	131	135					7																	82544797		1888	4117	6005	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12505C>T	7.37:g.82544797G>A	ENSP00000334319:p.Leu4169Phe			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.L4169F	ENST00000333891.9	37	c.12505	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092347	0.55968	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19806	2.12;2.12	5.73	5.73	0.89815	.	.	.	.	.	T	0.48352	0.1495	M	0.65498	2.005	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.946;0.995;0.995	T	0.42582	-0.9443	9	0.87932	D	0	.	19.9748	0.97299	0.0:0.0:1.0:0.0	.	4100;4169;4169	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	4169;4169;889	ENSP00000334319:L4169F;ENSP00000388393:L4169F	ENSP00000334319:L4169F	L	-	1	0	PCLO	82382733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.573000	0.74009	2.716000	0.92895	0.552000	0.68991	CTC	PCLO	-	NULL		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82544797	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82544797	G	A	82544797	3	1	46	1	0	0	0	0	1	0	0	0	11607	1029	36	4	3016	4	PCLO	7	82544797	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		82544797	76593866	13	6304										
ABL1	25	genome.wustl.edu	37	chr9	133729451	133729451	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	ttcccccctttctcttccagAagcccttcagcggccagtag	7	17	2	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr9:133729451A>T	ENST00000318560.5	+	2	461	c.80A>T	c.(79-81)gAa>gTa	p.E27V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	27	CAP.	Breakpoint for translocation to form BCR- ABL oncogene.			actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCTCTTCCAGAAGCCCTTCAG	0.443			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													69	75	73					9																	133729451		2203	4300	6503	SO:0001630	splice_region_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.80-1A>T	9.37:g.133729451A>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E46V	ENST00000318560.5	37	c.137	CCDS35166.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.275373|5.275373	0.95459|0.95459	.|.	.|.	ENSG00000097007|ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560|ENST00000393293	T;T|.	0.38722|.	1.12;1.12|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.099652|.	0.64402|.	D|.	0.000002|.	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;P|.	0.67145|.	0.996;0.81|.	D;B|.	0.63703|.	0.917;0.41|.	T|T	0.52358|0.52358	-0.8586|-0.8586	9|5	.|.	.|.	.|.	.|.	15.4795|15.4795	0.75514|0.75514	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	27;64|.	P00519;Q59FK4|.	ABL1_HUMAN;.|.	V|L	46;73;27|45	ENSP00000361423:E46V;ENSP00000323315:E27V|.	.|.	E|Q	+|+	2|2	0|0	ABL1|ABL1	132719272|132719272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.286000|9.286000	0.95898|0.95898	2.244000|2.244000	0.73946|0.73946	0.519000|0.519000	0.50382|0.50382	GAA|CAA	ABL1	-	NULL		0.443	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	A	NM_007313	Missense_Mutation	133729451	1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133729451	A	T	133729451	5	4	46	1	0	0	0	0	0	0	1	0	92	260	9	5	226	5	ABL1	9	133729451	Splice_Site	SNP	A	TCGA-C5-A7CM-01A-11D-A33O-09		133729451	7483980	14	6305										
PTPLA	9200	genome.wustl.edu	37	chr10	17646048	17646049	+	Splice_Site	INS	-	-	A													0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	atagctagaaccaaccacctINSaaaaaaaaaaagtatttcat					rs76004443		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS	-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			PTPLA	-	-		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1	-	NM_014241	Intron	17646049	-1	no_errors	ENST00000361271	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.005	A	A	17646049	-	A	17646048	8	5	46	1	0	1	1	0	0	0	1	0	12802	1536	53	0	634	0	PTPLA	10	17646048	Splice_Site	INS	-	TCGA-C5-A7CM-01A-11D-A33O-09		17646048	117888699	15	6306										
PYROXD2	84795	genome.wustl.edu	37	chr10	100154958	100154958	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	acccccctcactcacccactCcccggagtgtggggacttgt							TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr10:100154958delC	ENST00000370575.4	-	8	828	c.780delG	c.(778-780)gggfs	p.G260fs	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	260							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCACCCACTCCCCGGAGTGT	0.582																																																	0													96	93	94					10																	100154958		2203	4300	6503	SO:0001589	frameshift_variant	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.780delG	10.37:g.100154958delC	ENSP00000359607:p.Gly260fs		D3DR61|Q5TAA9|Q9BRQ1	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.S261fs	ENST00000370575.4	37	c.780	CCDS7474.1	10																																																																																			PYROXD2	-	NULL		0.582	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	C	NM_032709		100154958	-1	no_errors	ENST00000370575	ensembl	human	known	70_37	frame_shift_del	DEL	0.892	-	-	100154958	C	-	100154958	7	5	46	1	0	1	0	1	0	0	0	0	12897	842	30	0	1001	0	PYROXD2	10	100154958	Frame_Shift_Del	DEL	C	TCGA-C5-A7CM-01A-11D-A33O-09	82508910	100154958	35379789	16	6307										
NAV2	89797	genome.wustl.edu	37	chr11	20113786	20113786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	gctgaaagctgagaatgatcGgctgaagtcagagtctcaag	13	7	2	5			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr11:20113786G>T	ENST00000396087.3	+	31	5963	c.5864G>T	c.(5863-5865)cGg>cTg	p.R1955L	NAV2_ENST00000533917.1_Missense_Mutation_p.R960L|NAV2_ENST00000396085.1_Missense_Mutation_p.R1899L|NAV2_ENST00000540292.1_Missense_Mutation_p.R1886L|NAV2_ENST00000311043.8_Missense_Mutation_p.R960L|NAV2_ENST00000527559.2_Missense_Mutation_p.R1884L|NAV2_ENST00000349880.4_Missense_Mutation_p.R1896L|NAV2_ENST00000360655.4_Missense_Mutation_p.R1832L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1955					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R1955L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGAATGATCGGCTGAAGTCA	0.522																																																	1	Substitution - Missense(1)	lung(1)											74	78	76					11																	20113786		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5864G>T	11.37:g.20113786G>T	ENSP00000379396:p.Arg1955Leu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1955L	ENST00000396087.3	37	c.5864	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.142757	0.94560	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.41400	1.0;1.12;1.09;1.16;1.05;1.05;2.5;2.5	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000012	T	0.66005	0.2746	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.60276	-0.7295	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1899;960;1896;1832	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	L	1832;1899;1896;1955;1884;1886;960;960	ENSP00000353871:R1832L;ENSP00000379394:R1899L;ENSP00000309577:R1896L;ENSP00000379396:R1955L;ENSP00000435395:R1884L;ENSP00000443489:R1886L;ENSP00000437316:R960L;ENSP00000312169:R960L	.	R	+	2	0	NAV2	20070362	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGG	NAV2	-	NULL		0.522	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	G	NM_145117		20113786	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20113786	G	T	20113786	3	4	46	1	0	0	0	0	1	0	0	0	10207	1116	39	2	5915	2	NAV2	11	20113786	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		20113786	114892730	17	6308										
ADCY6	112	genome.wustl.edu	37	chr12	49176440	49176440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	gcccaggccgctgaggacggCagcccgcatgcggatgggga	18	13	0	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr12:49176440C>T	ENST00000307885.4	-	1	1472	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	ADCY6_ENST00000550422.1_Missense_Mutation_p.A260T|ADCY6_ENST00000357869.3_Missense_Mutation_p.A260T	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	260					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGAGGACGGCAGCCCGCATG	0.642																																																	0													29	31	30					12																	49176440		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.778G>A	12.37:g.49176440C>T	ENSP00000311405:p.Ala260Thr		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A260T	ENST00000307885.4	37	c.778	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207640	0.79240	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.25250	1.81;1.81;1.81	5.26	5.26	0.73747	.	0.067822	0.56097	D	0.000026	T	0.52996	0.1769	M	0.77712	2.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68765	0.944;0.96	T	0.57648	-0.7775	10	0.72032	D	0.01	.	17.6369	0.88124	0.0:1.0:0.0:0.0	.	260;260	O43306-2;O43306	.;ADCY6_HUMAN	T	260	ENSP00000350536:A260T;ENSP00000446730:A260T;ENSP00000311405:A260T	ENSP00000311405:A260T	A	-	1	0	ADCY6	47462707	1.000000	0.71417	0.107000	0.21349	0.434000	0.31775	4.955000	0.63638	2.466000	0.83321	0.655000	0.94253	GCC	ADCY6	-	NULL		0.642	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	C	NM_020983		49176440	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	0.999	T	T	49176440	C	T	49176440	3	4	46	1	0	0	0	0	1	0	0	0	298	710	25	4	2812	4	ADCY6	12	49176440	Missense_Mutation	SNP	C	TCGA-C5-A7CM-01A-11D-A33O-09		49176440	84675455	18	6309										
YLPM1	56252	genome.wustl.edu	37	chr14	75283279	75283279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	ctgtatgattcttaggataaGgaggtagaatttggaggacc	13	4	1	2	rs200986063		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr14:75283279G>T	ENST00000552421.1	+	12	3577	c.3453G>T	c.(3451-3453)aaG>aaT	p.K1151N	YLPM1_ENST00000325680.7_Missense_Mutation_p.K1857N|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	1662	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTAGGATAAGGAGGTAGAAT	0.363																																																	0													58	54	55					14																	75283279		1823	4089	5912	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3453G>T	14.37:g.75283279G>T	ENSP00000447921:p.Lys1151Asn		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.K1857N	ENST00000552421.1	37	c.5571		14	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058237	0.55325	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680;ENST00000547879	T;T;T	0.47177	0.85;0.85;0.85	5.77	1.81	0.25067	.	0.000000	0.64402	D	0.000002	T	0.63022	0.2476	L	0.61036	1.89	0.80722	D	1	D;D	0.76494	0.978;0.999	D;D	0.80764	0.979;0.994	T	0.62353	-0.6872	10	0.87932	D	0	-12.9691	12.7231	0.57154	0.2557:0.0:0.7443:0.0	.	1662;1857	P49750-3;P49750-4	.;.	N	1151;1857;1570;266	ENSP00000447921:K1151N;ENSP00000324463:K1857N;ENSP00000448367:K266N	ENSP00000324463:K1857N	K	+	3	2	YLPM1	74353032	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	1.045000	0.30341	-0.127000	0.11661	-1.945000	0.00491	AAG	YLPM1	-	NULL		0.363	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75283279	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75283279	G	T	75283279	3	4	46	1	0	0	0	0	1	0	0	0	17517	991	35	4	5621	4	YLPM1	14	75283279	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		75283279	32066261	19	6310										
ORAI3	93129	genome.wustl.edu	37	chr16	30964697	30964697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	tctgtccaccagtcgccacaCcagagactgcaccgctacgt	8	17	1	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr16:30964697C>T	ENST00000318663.4	+	2	644	c.420C>T	c.(418-420)caC>caT	p.H140H	ORAI3_ENST00000566237.1_Silent_p.H140H|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	140					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						AGTCGCCACACCAGAGACTGC	0.572											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113	114	114					16																	30964697		2197	4300	6497	SO:0001819	synonymous_variant	93129			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.420C>T	16.37:g.30964697C>T		821	Q96BI8	Silent	SNP	pfam_CRAC_channel	p.H140	ENST00000318663.4	37	c.420	CCDS10697.1	16																																																																																			ORAI3	-	pfam_CRAC_channel		0.572	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20	C	NM_152288		30964697	1	no_errors	ENST00000318663	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30964697	C	T	30964697	2	4	46	1	0	0	0	0	0	0	0	1	11283	506	18	4		4	ORAI3	16	30964697	Silent	SNP	C	TCGA-C5-A7CM-01A-11D-A33O-09		30964697	59390056	20	6311										
FBXW10	10517	genome.wustl.edu	37	chr17	18682026	18682026	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	ccaaggaaggtcttgaatttCaaaggaaaatcaatccaacg	8	8	3	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:18682026C>A	ENST00000395665.4	+	14	2795	c.2574C>A	c.(2572-2574)ttC>ttA	p.F858L	FBXW10_ENST00000308799.4_Missense_Mutation_p.F867L|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.F805L|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.F857L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	858										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTTGAATTTCAAAGGAAAAT	0.438																																																	0													27	30	29					17																	18682026		2188	4271	6459	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2574C>A	17.37:g.18682026C>A	ENSP00000379025:p.Phe858Leu		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F867L	ENST00000395665.4	37	c.2601	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822496	0.02755	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.55234	0.55;0.65;0.53;0.66	3.89	-1.6	0.08426	.	.	.	.	.	T	0.28732	0.0712	N	0.16602	0.42	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.001	B;B;B;B	0.13407	0.009;0.003;0.004;0.003	T	0.25745	-1.0123	9	0.11485	T	0.65	.	6.78	0.23640	0.3063:0.4215:0.2723:0.0	.	805;867;858;857	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	L	857;867;805;858	ENSP00000379026:F857L;ENSP00000310382:F867L;ENSP00000306937:F805L;ENSP00000379025:F858L	ENSP00000306937:F805L	F	+	3	2	FBXW10	18622751	0.000000	0.05858	0.939000	0.37840	0.796000	0.44982	-0.983000	0.03759	-0.048000	0.13401	0.411000	0.27672	TTC	FBXW10	-	NULL		0.438	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	C	NM_031456		18682026	1	no_errors	ENST00000308799	ensembl	human	known	70_37	missense	SNP	0.080	A	A	18682026	C	A	18682026	3	1	46	1	0	0	0	0	1	0	0	0	5781	825	29	3	2625	3	FBXW10	17	18682026	Missense_Mutation	SNP	C	TCGA-C5-A7CM-01A-11D-A33O-09		18682026	62513184	21	6312										
ABCA6	23460	genome.wustl.edu	37	chr17	67109414	67109414	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	ggtactgaaaaggatcacatGatctgctctacgctctctca	8	11	5	2			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:67109414G>T	ENST00000284425.2	-	15	2164	c.1990C>A	c.(1990-1992)Cat>Aat	p.H664N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	664	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGATCACATGATCTGCTCTA	0.438																																																	0													98	89	92					17																	67109414		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1990C>A	17.37:g.67109414G>T	ENSP00000284425:p.His664Asn		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H664N	ENST00000284425.2	37	c.1990	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643039	0.14451	.	.	ENSG00000154262	ENST00000284425	D	0.93133	-3.17	4.95	3.91	0.45181	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.902885	0.09449	N	0.800696	D	0.89111	0.6622	N	0.21194	0.64	0.34693	D	0.72596	B	0.13145	0.007	B	0.14578	0.011	D	0.85524	0.1205	10	0.87932	D	0	.	14.4646	0.67475	0.0:0.0:0.8528:0.1472	.	664	Q8N139	ABCA6_HUMAN	N	664	ENSP00000284425:H664N	ENSP00000284425:H664N	H	-	1	0	ABCA6	64621009	0.004000	0.15560	0.013000	0.15412	0.120000	0.20174	1.439000	0.35013	2.730000	0.93505	0.655000	0.94253	CAT	ABCA6	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.438	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	G	NM_080284		67109414	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.015	T	T	67109414	G	T	67109414	3	4	46	1	0	0	0	0	1	0	0	0	36	1290	45	3	2963	3	ABCA6	17	67109414	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	48427388	67109414	14085796	22	6313										
ABCA6	23460	genome.wustl.edu	37	chr17	67124905	67124905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	caaccaaattggtgaggacaGctttctttaacagcacactc	7	11	1	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:67124905G>A	ENST00000284425.2	-	8	1148	c.974C>T	c.(973-975)gCt>gTt	p.A325V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	325					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGTGAGGACAGCTTTCTTTAA	0.398																																																	0													113	110	111					17																	67124905		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.974C>T	17.37:g.67124905G>A	ENSP00000284425:p.Ala325Val		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A325V	ENST00000284425.2	37	c.974	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088705	0.55968	.	.	ENSG00000154262	ENST00000284425	D	0.87729	-2.29	5.61	3.55	0.40652	.	0.515290	0.16083	N	0.230436	D	0.82747	0.5104	L	0.36672	1.1	0.54753	D	0.999987	B	0.33299	0.407	B	0.36766	0.232	T	0.79349	-0.1840	10	0.49607	T	0.09	.	12.9084	0.58166	0.0:0.2848:0.7152:0.0	.	325	Q8N139	ABCA6_HUMAN	V	325	ENSP00000284425:A325V	ENSP00000284425:A325V	A	-	2	0	ABCA6	64636500	0.513000	0.26194	0.619000	0.29118	0.951000	0.60555	1.590000	0.36654	0.795000	0.33922	0.655000	0.94253	GCT	ABCA6	-	NULL		0.398	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	G	NM_080284		67124905	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.767	A	A	67124905	G	A	67124905	3	1	46	1	0	0	0	0	1	0	0	0	36	971	34	4	4007	4	ABCA6	17	67124905	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	15491	67124905	14070305	23	6314										
ABCA5	23461	genome.wustl.edu	37	chr17	67247993	67247993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	gctttctgtttttaaatgcaGttcgaattgctcgcctataa	7	8	1	0			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:67247993G>T	ENST00000392676.3	-	35	4494	c.4430C>A	c.(4429-4431)aCt>aAt	p.T1477N	ABCA5_ENST00000392677.2_Missense_Mutation_p.T1478N|ABCA5_ENST00000588877.1_Missense_Mutation_p.T1477N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1477	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTAAATGCAGTTCGAATTGC	0.398																																																	0													68	61	63					17																	67247993		2203	4300	6503	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4430C>A	17.37:g.67247993G>T	ENSP00000376443:p.Thr1477Asn		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1478N	ENST00000392676.3	37	c.4433	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020073	0.75275	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.95171	-3.63;-3.63	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.088021	0.48767	D	0.000174	D	0.89494	0.6731	N	0.05383	-0.06	0.50467	D	0.999879	P	0.44478	0.836	P	0.44359	0.447	D	0.88382	0.3002	10	0.22109	T	0.4	.	19.6122	0.95610	0.0:0.0:1.0:0.0	.	1477	Q8WWZ7	ABCA5_HUMAN	N	1478;1477	ENSP00000376444:T1478N;ENSP00000376443:T1477N	ENSP00000376443:T1477N	T	-	2	0	ABCA5	64759588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.140000	0.94607	2.709000	0.92574	0.591000	0.81541	ACT	ABCA5	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.398	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	G	NM_018672		67247993	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67247993	G	T	67247993	3	4	46	1	0	0	0	0	1	0	0	0	35	1029	36	4	518	4	ABCA5	17	67247993	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	123088	67247993	13947217	24	6315										
PHKA2	5256	genome.wustl.edu	37	chrX	18959775	18959775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	agatgtcgacgctcttggcaGcatggagaacagaatagact	12	8	1	4			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:18959775G>T	ENST00000379942.4	-	8	1401	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	246					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTCTTGGCAGCATGGAGAAC	0.458																																																	0													81	74	76					X																	18959775		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.736C>A	X.37:g.18959775G>T	ENSP00000369274:p.Leu246Met		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L246M	ENST00000379942.4	37	c.736	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	g	17.67	3.447707	0.63178	.	.	ENSG00000044446	ENST00000379942	D	0.94092	-3.35	5.52	2.16	0.27623	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95454	0.8537	10	0.87932	D	0	-11.6085	8.9	0.35487	0.6208:0.0:0.3792:0.0	.	246	P46019	KPB2_HUMAN	M	246	ENSP00000369274:L246M	ENSP00000369274:L246M	L	-	1	2	PHKA2	18869696	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.749000	0.26320	-0.046000	0.13446	0.597000	0.82753	CTG	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	G	NM_000292		18959775	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18959775	G	T	18959775	3	4	46	1	0	0	0	0	1	0	0	0	11868	962	34	4	3075	4	PHKA2	23	18959775	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09		18959775	136310785	25	6316										
PAGE4	9506	genome.wustl.edu	37	chrX	49597149	49597149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	acgtaaagtagaaggtgattGccaggaaatggatctggaaa	13	4	1	2			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:49597149G>T	ENST00000218068.6	+	4	267	c.188G>T	c.(187-189)tGc>tTc	p.C63F	PAGE4_ENST00000376141.1_Missense_Mutation_p.C63F	NM_007003.2	NP_008934.1	O60829	PAGE4_HUMAN	P antigen family, member 4 (prostate associated)	63												Ovarian(276;0.236)					GAAGGTGATTGCCAGGAAATG	0.343																																																	0													77	63	68					X																	49597149		2203	4300	6503	SO:0001583	missense	9506			AF275258	CCDS35274.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000101951	ENSG00000101951			4108	protein-coding gene	gene with protein product		300287	"G antigen, family C, 1"	GAGEC1		9724777	Standard	NM_007003		Approved	PAGE-4, CT16.7	uc004don.1	O60829	OTTHUMG00000024155	ENST00000218068.6:c.188G>T	X.37:g.49597149G>T	ENSP00000218068:p.Cys63Phe		B2R529|D3DX68|Q6IBI1	Missense_Mutation	SNP	pfam_GAGE	p.C63F	ENST00000218068.6	37	c.188	CCDS35274.1	X	.	.	.	.	.	.	.	.	.	.	G	3.502	-0.101609	0.06967	.	.	ENSG00000101951	ENST00000376141;ENST00000218068	T;T	0.09073	3.02;3.02	3.08	-6.17	0.02091	.	.	.	.	.	T	0.03520	0.0101	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.42699	-0.9436	9	0.20046	T	0.44	.	0.1991	0.00143	0.3273:0.251:0.1682:0.2536	.	63	O60829	GAGC1_HUMAN	F	63	ENSP00000365311:C63F;ENSP00000218068:C63F	ENSP00000218068:C63F	C	+	2	0	PAGE4	49483887	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.354000	0.07681	-2.356000	0.00613	-1.169000	0.01745	TGC	PAGE4	-	pfam_GAGE		0.343	PAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE4	HGNC	protein_coding	OTTHUMT00000060839.1	G			49597149	1	no_errors	ENST00000218068	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49597149	G	T	49597149	3	4	46	1	0	0	0	0	1	0	0	0	11416	1319	46	4	198	4	PAGE4	23	49597149	Missense_Mutation	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	30637374	49597149	105673411	26	6317										
TBX22	50945	genome.wustl.edu	37	chrX	79277789	79277789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	atggctctgagctctcgggcGcgtgccttctccgtggaagc	14	13	3	1			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:79277789G>A	ENST00000373294.5	+	1	49	c.21G>A	c.(19-21)gcG>gcA	p.A7A	TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Silent_p.A7A|TBX22_ENST00000373291.1_5'Flank	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	7					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCTCTCGGGCGCGTGCCTTCT	0.597																																																	0													46	44	44					X																	79277789		2203	4300	6503	SO:0001819	synonymous_variant	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.21G>A	X.37:g.79277789G>A			Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A7	ENST00000373294.5	37	c.21	CCDS14445.1	X																																																																																			TBX22	-	NULL		0.597	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	G	NM_016954		79277789	1	no_errors	ENST00000373294	ensembl	human	known	70_37	silent	SNP	0.986	A	A	79277789	G	A	79277789	2	1	46	1	0	0	0	0	0	0	0	1	15688	1074	38	2		2	TBX22	23	79277789	Silent	SNP	G	TCGA-C5-A7CM-01A-11D-A33O-09	29680640	79277789	75992771	27	6318										
LRCH2	57631	genome.wustl.edu	37	chrX	114399998	114399998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	0.683360797511311	1.03968253968254	6.23809523809524	0.567099567099567	1	1	0	ctcctaattcttcatttttcCgagatttttcagaacatttt	3	9	3	2			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:114399998C>T	ENST00000317135.8	-	10	1355	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R442Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	442										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTCATTTTTCCGAGATTTTTC	0.264																																																	0													63	49	53					X																	114399998		1346	3087	4433	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1325G>A	X.37:g.114399998C>T	ENSP00000325091:p.Arg442Gln		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R442Q	ENST00000317135.8	37	c.1325	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773395	0.16051	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00717	5.81;5.79	5.19	4.01	0.46588	.	0.348109	0.26867	N	0.022096	T	0.00356	0.0011	N	0.00707	-1.245	0.20196	N	0.99993	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.44772	-0.9306	10	0.20519	T	0.43	-0.5491	8.2311	0.31599	0.0:0.0946:0.0:0.9054	.	442;442	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	Q	442	ENSP00000325091:R442Q;ENSP00000439366:R442Q	ENSP00000325091:R442Q	R	-	2	0	LRCH2	114306254	1.000000	0.71417	0.993000	0.49108	0.457000	0.32468	3.413000	0.52686	0.704000	0.31869	-0.460000	0.05396	CGG	LRCH2	-	superfamily_NA-bd_OB-fold-like		0.264	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	C	NM_020871		114399998	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114399998	C	T	114399998	3	4	46	1	0	0	0	0	1	0	0	0	8956	652	23	2	1020	2	LRCH2	23	114399998	Missense_Mutation	SNP	C	TCGA-C5-A7CM-01A-11D-A33O-09	35122209	114399998	40870562	28	6319										
PLEKHG5	57449	genome.wustl.edu	37	chr1	6537661	6537661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gaacttgctgtcacaggcctCgcagaggttgaggggccccc	14	13	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:6537661C>T	ENST00000400915.3	-	3	205	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000377728.3_5'UTR|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E70K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E60K|PLEKHG5_ENST00000340850.5_5'UTR|PLEKHG5_ENST00000400913.1_5'UTR|PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E68K|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E68K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E28K|PLEKHG5_ENST00000377737.2_5'UTR	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	47					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCACAGGCCTCGCAGAGGTTG	0.642																																																	0													74	75	75					1																	6537661		2203	4300	6503	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.139G>A	1.37:g.6537661C>T	ENSP00000383706:p.Glu47Lys		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E70K	ENST00000400915.3	37	c.208	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.205270	0.95033	.	.	ENSG00000171680	ENST00000377748;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000535355;ENST00000537245	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	4.52	4.52	0.55395	.	0.131174	0.49916	D	0.000121	T	0.71500	0.3347	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;D;D	0.69654	0.965;0.814;0.965;0.924	T	0.74278	-0.3717	10	0.56958	D	0.05	-35.3806	16.1884	0.81971	0.0:1.0:0.0:0.0	.	60;68;68;47	F5GZ21;Q5SY18;O94827-2;O94827	.;.;.;PKHG5_HUMAN	K	68;47;68;28;60;70	ENSP00000366977:E68K;ENSP00000383706:E47K;ENSP00000366969:E68K;ENSP00000366961:E28K;ENSP00000441445:E60K;ENSP00000439625:E70K	ENSP00000366961:E28K	E	-	1	0	PLEKHG5	6460248	0.998000	0.40836	0.990000	0.47175	0.994000	0.84299	3.940000	0.56599	2.227000	0.72691	0.407000	0.27541	GAG	PLEKHG5	-	NULL		0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6537661	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6537661	C	T	6537661	3	4	47	1	0	0	0	0	1	0	0	0	12097	893	31	1	3129	1	PLEKHG5	1	6537661	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		6537661	242712960	1	6320										
SFRS11	9295	genome.wustl.edu	37	chr1	70716118	70716120	+	In_Frame_Del	DEL	AAG	AAG	-													0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aaagagaacgatcaacaagcAagaagaagaagagtaaagat							TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:70716118_70716120delAAG	ENST00000370950.3	+	12	1271_1273	c.1189_1191delAAG	c.(1189-1191)aagdel	p.K400del	SRSF11_ENST00000370949.1_In_Frame_Del_p.K340del|SRSF11_ENST00000370951.1_In_Frame_Del_p.K400del|SRSF11_ENST00000405432.1_In_Frame_Del_p.K400del|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	400	Poly-Lys.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						atcaacaagcaagaagaagaaga	0.315																																																	0																																										SO:0001651	inframe_deletion	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1189_1191delAAG	1.37:g.70716127_70716129delAAG	ENSP00000359988:p.Lys400del		Q5T758|Q8IWE6	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K400in_frame_del	ENST00000370950.3	37	c.1189_1191	CCDS647.1	1																																																																																			SRSF11	-	NULL		0.315	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	AAG	NM_004768		70716120	1	no_errors	ENST00000370950	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	70716120	AAG	-	70716118	7	5	47	1	0	1	0	1	0	0	0	0	14196	131	5	0	1231	0	SFRS11	1	70716118	In_Frame_Del	DEL	AAG	TCGA-C5-A7CO-01A-11D-A351-09	64178457	70716118	178534503	2	6321										
C1orf173	127254	genome.wustl.edu	37	chr1	75038216	75038216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tggcctctcagctttccttcGctctcttgctaaatctaatt	5	13	3	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:75038216G>A	ENST00000326665.5	-	14	3396	c.3178C>T	c.(3178-3180)Cga>Tga	p.R1060*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1060	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTTCCTTCGCTCTCTTGCT	0.433																																																	0													157	167	164					1																	75038216		2203	4300	6503	SO:0001587	stop_gained	127254																														ENST00000326665.5:c.3178C>T	1.37:g.75038216G>A	ENSP00000322609:p.Arg1060*		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.R1060*	ENST00000326665.5	37	c.3178	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.899480	0.98551	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.06	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.30963	N	0.723411	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.433	6.3798	0.21527	0.0:0.0901:0.1625:0.7474	.	.	.	.	X	1060	.	ENSP00000322609:R1060X	R	-	1	2	C1orf173	74810804	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.053000	0.11846	0.218000	0.20820	-1.238000	0.01547	CGA	C1orf173	-	NULL		0.433	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75038216	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	nonsense	SNP	0.409	A	A	75038216	G	A	75038216	4	1	47	1	0	0	0	0	0	1	0	0	2019	1095	38	2	1418	2	C1orf173	1	75038216	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	4322098	75038216	174212405	3	6322										
RBM15	64783	genome.wustl.edu	37	chr1	110882167	110882167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	acgacccgcaacaatgaaggGaaaagagcgctcgccagtga	12	11	0	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:110882167G>A	ENST00000369784.3	+	1	1040	c.140G>A	c.(139-141)gGa>gAa	p.G47E	RBM15_ENST00000602849.1_Missense_Mutation_p.G47E|RBM15_ENST00000487146.2_Missense_Mutation_p.G47E|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	47					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAATGAAGGGAAAAGAGCGC	0.652			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													30	33	32					1																	110882167		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.140G>A	1.37:g.110882167G>A	ENSP00000358799:p.Gly47Glu		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.G47E	ENST00000369784.3	37	c.140	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677810	0.88445	.	.	ENSG00000162775	ENST00000369784	T	0.18016	2.24	5.3	5.3	0.74995	.	0.000000	0.44688	D	0.000421	T	0.25680	0.0625	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.02385	-1.1167	10	0.87932	D	0	-8.9321	18.7341	0.91748	0.0:0.0:1.0:0.0	.	47;47	Q96T37-3;Q96T37	.;RBM15_HUMAN	E	47	ENSP00000358799:G47E	ENSP00000358799:G47E	G	+	2	0	RBM15	110683690	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	8.718000	0.91430	2.759000	0.94783	0.650000	0.86243	GGA	RBM15	-	NULL		0.652	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	G	NM_022768		110882167	1	no_errors	ENST00000369784	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110882167	G	A	110882167	3	1	47	1	0	0	0	0	1	0	0	0	13146	1174	41	1	142	1	RBM15	1	110882167	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	35843951	110882167	138368454	4	6323										
TTF2	8458	genome.wustl.edu	37	chr1	117639973	117639973	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tgttgtgtttccttttgaagGtaatgctaatctctctcttg	8	7	2	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:117639973G>T	ENST00000369466.4	+	21	3231	c.3187G>T	c.(3187-3189)Gta>Tta	p.V1063L	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1063	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTTTTGAAGGTAATGCTAAT	0.418																																																	0													288	275	279					1																	117639973		2203	4300	6503	SO:0001630	splice_region_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3187-1G>T	1.37:g.117639973G>T			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1063L	ENST00000369466.4	37	c.3187	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160376	0.57368	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	D;D	0.82255	-1.59;-1.59	5.15	3.25	0.37280	Helicase, C-terminal (3);	0.240432	0.21675	N	0.070817	T	0.79575	0.4469	M	0.64676	1.99	0.80722	D	1	D	0.54047	0.964	P	0.54856	0.762	T	0.77920	-0.2407	9	.	.	.	-10.3872	8.7674	0.34711	0.0847:0.1524:0.7628:0.0	.	1063	Q9UNY4	TTF2_HUMAN	L	1063;44	ENSP00000358478:V1063L;ENSP00000408111:V44L	.	V	+	1	0	TTF2	117441496	1.000000	0.71417	0.930000	0.37139	0.191000	0.23601	7.096000	0.76960	0.665000	0.31066	0.448000	0.29417	GTA	TTF2	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.418	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G		Missense_Mutation	117639973	1	no_errors	ENST00000369466	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117639973	G	T	117639973	5	4	47	1	0	0	0	0	0	0	1	0	16750	1275	44	4	3269	4	TTF2	1	117639973	Splice_Site	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	6757806	117639973	131610648	5	6324										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144918884	144918884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tggtttaggtgctggatgttTtgttcctgggttcgaatctc	13	6	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:144918884T>G	ENST00000369354.3	-	10	1491	c.1302A>C	c.(1300-1302)caA>caC	p.Q434H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q597H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	434					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGGATGTTTTGTTCCTGGG	0.433			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													467	489	482					1																	144918884		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1302A>C	1.37:g.144918884T>G	ENSP00000358360:p.Gln434His		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q434H	ENST00000369354.3	37	c.1302	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	t	18.56	3.650165	0.67472	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.66099	4.54;4.63;4.63;4.64;4.64;3.64;3.64;2.62;2.62;-0.19	5.64	0.836	0.18891	.	.	.	.	.	T	0.63651	0.2529	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.999;0.961;0.999;0.97;0.972	T	0.64292	-0.6442	9	0.72032	D	0.01	.	7.7814	0.29066	0.0:0.6271:0.1645:0.2084	.	597;434;597;500;434	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	H	500;434;434;597;571;571;434;434;597;597;221	ENSP00000327209:Q500H;ENSP00000358360:Q434H;ENSP00000358363:Q434H;ENSP00000435654:Q571H;ENSP00000358366:Q571H;ENSP00000358357:Q434H;ENSP00000358355:Q434H;ENSP00000316434:Q597H;ENSP00000433392:Q597H;ENSP00000436791:Q221H	ENSP00000327209:Q500H	Q	-	3	2	PDE4DIP	143630241	0.107000	0.21998	0.943000	0.38184	0.949000	0.60115	0.229000	0.17833	-0.175000	0.10725	-0.266000	0.10368	CAA	PDE4DIP	-	NULL		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	T	NM_022359		144918884	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.891	G	G	144918884	T	G	144918884	3	3	47	1	0	0	0	0	1	0	0	0	11667	1838	64	5	5888	5	PDE4DIP	1	144918884	Missense_Mutation	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	27278911	144918884	104331737	6	6325										
HIST2H2BE	8349	genome.wustl.edu	37	chr1	149857969	149857969	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aggcgggaagcctctcccgcGatgcgctcgaagatgtcgtt	14	12	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:149857969G>A	ENST00000369155.2	-	1	263	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTCTCCCGCGATGCGCTCGA	0.637																																																	0													120	111	114					1																	149857969		2203	4297	6500	SO:0001819	synonymous_variant	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.222C>T	1.37:g.149857969G>A			A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74	ENST00000369155.2	37	c.222	CCDS936.1	1																																																																																			HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.637	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	G	NM_003528		149857969	-1	no_errors	ENST00000369155	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149857969	G	A	149857969	2	1	47	1	0	0	0	0	0	0	0	1	7199	1048	37	1		1	HIST2H2BE	1	149857969	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	4939085	149857969	99392652	7	6326										
SLC26A9	115019	genome.wustl.edu	37	chr1	205897082	205897082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tggccagggtccggcccataGccaggttgatgacgtagctc	14	12	0	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:205897082G>A	ENST00000367135.3	-	9	1162	c.1049C>T	c.(1048-1050)gCt>gTt	p.A350V	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A350V|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A350V	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	350					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCGGCCCATAGCCAGGTTGAT	0.622																																																	0													102	86	92					1																	205897082		2203	4300	6503	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1049C>T	1.37:g.205897082G>A	ENSP00000356103:p.Ala350Val		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A350V	ENST00000367135.3	37	c.1049	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244373	0.79912	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93811	-3.29;-3.29;-3.29	5.08	5.08	0.68730	Sulphate transporter (1);	0.142736	0.44688	D	0.000432	D	0.96207	0.8763	M	0.69358	2.11	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.79784	0.984;0.993	D	0.96446	0.9330	10	0.72032	D	0.01	.	18.2466	0.89988	0.0:0.0:1.0:0.0	.	350;350	Q7LBE3;B1AVM8	S26A9_HUMAN;.	V	350	ENSP00000341682:A350V;ENSP00000356103:A350V;ENSP00000356102:A350V	ENSP00000341682:A350V	A	-	2	0	SLC26A9	204163705	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	9.120000	0.94369	2.640000	0.89533	0.655000	0.94253	GCT	SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.622	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	G	NM_052934		205897082	-1	no_errors	ENST00000340781	ensembl	human	known	70_37	missense	SNP	0.999	A	A	205897082	G	A	205897082	3	1	47	1	0	0	0	0	1	0	0	0	14554	971	34	4	1674	4	SLC26A9	1	205897082	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	56039113	205897082	43353539	8	6327										
EXO1	9156	genome.wustl.edu	37	chr1	242016700	242016700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ttaagggaaagcaacttcttCgtgaggggaaagtctcggaa	13	6	2	1	rs567681802	byFrequency	TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:242016700C>T	ENST00000366548.3	+	6	915	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	EXO1_ENST00000518483.1_Missense_Mutation_p.R108C|EXO1_ENST00000348581.5_Missense_Mutation_p.R108C|EXO1_ENST00000493702.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	108					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCAACTTCTTCGTGAGGGGAA	0.418								Editing and processing nucleases					C|||	2	0.000399361	0	0	5008	,	,		18499	0		0	False		,,,				2504	0.002																0													86	92	90					1																	242016700		2203	4300	6503	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.322C>T	1.37:g.242016700C>T	ENSP00000355506:p.Arg108Cys		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.R108C	ENST00000366548.3	37	c.322	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.127896	0.94473	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000523590;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497;ENST00000450748	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.85130	0.988;0.997;0.896	T	0.77574	-0.2537	10	0.87932	D	0	-0.8087	19.3526	0.94395	0.0:1.0:0.0:0.0	.	108;108;108	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	C	108;68;68;108;68;108;68;108	ENSP00000355506:R108C;ENSP00000415531:R68C;ENSP00000430082:R68C;ENSP00000311873:R108C;ENSP00000430251:R108C;ENSP00000412041:R68C;ENSP00000406652:R108C	ENSP00000311873:R108C	R	+	1	0	EXO1	240083323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.400000	0.79949	2.744000	0.94065	0.655000	0.94253	CGT	EXO1	-	NULL		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	C	NM_006027		242016700	1	no_errors	ENST00000348581	ensembl	human	known	70_37	missense	SNP	1.000	T	T	242016700	C	T	242016700	3	4	47	1	0	0	0	0	1	0	0	0	5312	884	31	1	332	1	EXO1	1	242016700	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	36119618	242016700	7233921	9	6328										
GREB1	9687	genome.wustl.edu	37	chr2	11765420	11765420	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcctgatttgttcgcactatCagggtataaagagtgaaggt	12	6	1	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:11765420C>G	ENST00000381486.2	+	24	4588	c.4288C>G	c.(4288-4290)Cag>Gag	p.Q1430E	GREB1_ENST00000234142.5_Missense_Mutation_p.Q1430E|GREB1_ENST00000396123.1_Missense_Mutation_p.Q428E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1430						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCGCACTATCAGGGTATAAA	0.488																																					Ovarian(39;850 945 2785 23371 33093)												0													248	230	236					2																	11765420		1911	4128	6039	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4288C>G	2.37:g.11765420C>G	ENSP00000370896:p.Gln1430Glu		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.Q1430E	ENST00000381486.2	37	c.4288	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	0.560	-0.845774	0.02671	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.21932	3.3;3.3;1.98	5.0	5.0	0.66597	.	0.453013	0.25935	N	0.027360	T	0.26231	0.0640	L	0.54323	1.7	0.20638	N	0.999872	B	0.24882	0.113	B	0.30251	0.113	T	0.11616	-1.0580	10	0.32370	T	0.25	-13.9813	18.3031	0.90171	0.0:1.0:0.0:0.0	.	1430	Q4ZG55	GREB1_HUMAN	E	1430;1430;428	ENSP00000370896:Q1430E;ENSP00000234142:Q1430E;ENSP00000379429:Q428E	ENSP00000234142:Q1430E	Q	+	1	0	GREB1	11682871	0.594000	0.26849	0.014000	0.15608	0.031000	0.12232	1.934000	0.40163	2.315000	0.78130	0.655000	0.94253	CAG	GREB1	-	NULL		0.488	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	C	NM_014668		11765420	1	no_errors	ENST00000234142	ensembl	human	known	70_37	missense	SNP	0.234	G	G	11765420	C	G	11765420	3	3	47	1	0	0	0	0	1	0	0	0	6780	827	29	1	4486	1	GREB1	2	11765420	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		11765420	231433953	10	6329										
LPIN1	23175	genome.wustl.edu	37	chr2	11919735	11919735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gggcagaagaacccagaaatGctttggctgtggggagagct	16	7	0	4			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:11919735G>A	ENST00000256720.2	+	6	906	c.813G>A	c.(811-813)atG>atA	p.M271I	LPIN1_ENST00000396099.1_Missense_Mutation_p.M313I|LPIN1_ENST00000449576.2_Missense_Mutation_p.M356I|LPIN1_ENST00000396098.1_Missense_Mutation_p.M313I|LPIN1_ENST00000425416.2_Missense_Mutation_p.M277I|LPIN1_ENST00000396097.1_Start_Codon_SNP_p.M1I	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	271					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCCAGAAATGCTTTGGCTGT	0.483											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	68	69					2																	11919735		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.813G>A	2.37:g.11919735G>A	ENSP00000256720:p.Met271Ile	675	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.M356I	ENST00000256720.2	37	c.1068	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869229	0.72065	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	D;D;D;D;D;T	0.92805	-1.76;-3.11;-1.72;-1.61;-1.61;-1.48	4.85	4.85	0.62838	.	0.075212	0.85682	D	0.000000	D	0.95310	0.8478	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76071	0.977;0.987;0.971	D	0.95423	0.8509	10	0.56958	D	0.05	-43.7459	18.3706	0.90406	0.0:0.0:1.0:0.0	.	356;271;313	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	I	356;313;313;277;271;1	ENSP00000397908:M356I;ENSP00000379405:M313I;ENSP00000379406:M313I;ENSP00000401522:M277I;ENSP00000256720:M271I;ENSP00000379404:M1I	ENSP00000256720:M271I	M	+	3	0	LPIN1	11837186	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.251000	0.95483	2.402000	0.81655	0.557000	0.71058	ATG	LPIN1	-	NULL		0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	G	NM_145693		11919735	1	no_errors	ENST00000449576	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11919735	G	A	11919735	3	1	47	1	0	0	0	0	1	0	0	0	8941	1319	46	4	831	4	LPIN1	2	11919735	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	154315	11919735	231279638	11	6330										
SOS1	6654	genome.wustl.edu	37	chr2	39213258	39213258	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gtcactttttttgcccaaagGgggaggttggagatgtagtg	15	5	1	1	rs371408734		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:39213258G>C	ENST00000426016.1	-	24	3795	c.3709C>G	c.(3709-3711)Cct>Gct	p.P1237A	SOS1_ENST00000395038.2_Missense_Mutation_p.P1222A|SOS1_ENST00000402219.2_Missense_Mutation_p.P1237A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1237					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGCCCAAAGGGGGAGGTTGG	0.517									Noonan syndrome				G|||	1	0.000199681	0	0	5008	,	,		18893	0		0	False		,,,				2504	0.001																0								G	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	135	139	138		3709	5.8	1	2		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOS1	NM_005633.3	27	0,2,6501	CC,CG,GG		0.0116,0.0227,0.0154	probably-damaging	1237/1334	39213258	2,13004	2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3709C>G	2.37:g.39213258G>C	ENSP00000387784:p.Pro1237Ala		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.P1237A	ENST00000426016.1	37	c.3709	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.865270	0.51588	2.27E-4	1.16E-4	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.80123	-1.0;-1.0;-1.34	5.8	5.8	0.92144	.	0.055972	0.64402	D	0.000001	D	0.88108	0.6348	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86515	0.1812	10	0.44086	T	0.13	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	1237	Q07889	SOS1_HUMAN	A	1237;1237;954;1222	ENSP00000387784:P1237A;ENSP00000384675:P1237A;ENSP00000378479:P1222A	ENSP00000378479:P1222A	P	-	1	0	SOS1	39066762	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	8.646000	0.91053	2.741000	0.93983	0.650000	0.86243	CCT	SOS1	-	NULL		0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	G	NM_005633		39213258	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39213258	G	C	39213258	3	2	47	1	0	0	0	0	1	0	0	0	14966	1232	43	4	296	4	SOS1	2	39213258	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	27293523	39213258	203986115	12	6331										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452806	43452806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ggaatcccggcgcgaagcccGagctgggggcggcggccaca	18	14	0	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:43452806G>A	ENST00000282388.3	-	2	430	c.137C>T	c.(136-138)tCg>tTg	p.S46L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	46					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCGAAGCCCGAGCTGGGGGC	0.687																																																	0													9	11	10					2																	43452806		2161	4256	6417	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.137C>T	2.37:g.43452806G>A	ENSP00000282388:p.Ser46Leu		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.S46L	ENST00000282388.3	37	c.137	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218991	0.58560	.	.	ENSG00000152518	ENST00000282388	T	0.57595	0.39	5.35	4.46	0.54185	Tis11B-like protein, N-terminal (1);	0.609712	0.14873	N	0.293419	T	0.42268	0.1195	L	0.44542	1.39	0.80722	D	1	P	0.45986	0.87	B	0.35470	0.203	T	0.51521	-0.8695	10	0.87932	D	0	-23.5605	12.3821	0.55313	0.0823:0.0:0.9177:0.0	.	46	P47974	TISD_HUMAN	L	46	ENSP00000282388:S46L	ENSP00000282388:S46L	S	-	2	0	ZFP36L2	43306310	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.484000	0.66844	2.503000	0.84419	0.561000	0.74099	TCG	ZFP36L2	-	pfam_Tis11B_N		0.687	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	G	NM_006887		43452806	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	0.996	A	A	43452806	G	A	43452806	3	1	47	1	0	0	0	0	1	0	0	0	17677	1059	37	1	1351	1	ZFP36L2	2	43452806	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	4239548	43452806	199746567	13	6332										
C2orf63	130162	genome.wustl.edu	37	chr2	55436648	55436648	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tgaaattatctgcagtctttGatgactaaaaagataaaaaa	6	4	2	4			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:55436648G>C	ENST00000401408.1	-	7	1051	c.706C>G	c.(706-708)Caa>Gaa	p.Q236E	CLHC1_ENST00000406076.1_Missense_Mutation_p.Q114E|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q236E|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	236																	TGCAGTCTTTGATGACTAAAA	0.318																																																	0													74	79	77					2																	55436648		2203	4299	6502	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.706C>G	2.37:g.55436648G>C	ENSP00000384869:p.Gln236Glu		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.Q236E	ENST00000401408.1	37	c.706	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797783	0.16327	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.17054	2.3;2.3;2.31	5.48	4.53	0.55603	.	0.249218	0.29838	N	0.011069	T	0.15219	0.0367	M	0.62723	1.935	0.80722	D	1	B	0.34015	0.435	B	0.24974	0.057	T	0.02625	-1.1132	10	0.25751	T	0.34	-5.2013	9.8342	0.40960	0.0:0.0:0.7452:0.2548	.	236	Q8NHS4	CB063_HUMAN	E	236;236;114	ENSP00000385778:Q236E;ENSP00000384869:Q236E;ENSP00000385512:Q114E	ENSP00000384869:Q236E	Q	-	1	0	C2orf63	55290152	1.000000	0.71417	0.995000	0.50966	0.081000	0.17604	2.366000	0.44204	2.567000	0.86603	0.655000	0.94253	CAA	CLHC1	-	pirsf_Clathrin_heavy-chain-rel		0.318	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	G	NM_152385		55436648	-1	no_errors	ENST00000401408	ensembl	human	known	70_37	missense	SNP	0.994	C	C	55436648	G	C	55436648	3	2	47	1	0	0	0	0	1	0	0	0	2187	1299	45	1	1082	1	C2orf63	2	55436648	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	11983842	55436648	187762725	14	6333										
NEB	4703	genome.wustl.edu	37	chr2	152476075	152476075	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cacatcgctgaccaaggtctGacacttcttggccaaaacga	8	13	2	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:152476075G>A	ENST00000172853.10	-	69	10180	c.10033C>T	c.(10033-10035)Cag>Tag	p.Q3345*	NEB_ENST00000603639.1_Nonsense_Mutation_p.Q3588*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q3345*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q3588*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Q3588*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q3588*			P20929	NEBU_HUMAN	nebulin	3345					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCAAGGTCTGACACTTCTTG	0.473																																																	0													157	153	154					2																	152476075		2036	4208	6244	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10033C>T	2.37:g.152476075G>A	ENSP00000172853:p.Gln3345*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q3588*	ENST00000172853.10	37	c.10762		2	.	.	.	.	.	.	.	.	.	.	G	52	20.023417	0.99926	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	X	3345;3588;3588;3345	.	ENSP00000172853:Q3345X	Q	-	1	0	NEB	152184321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.641000	0.91032	2.793000	0.96121	0.655000	0.94253	CAG	NEB	-	smart_Nebulin_35r-motif		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152476075	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152476075	G	A	152476075	4	1	47	1	0	0	0	0	0	1	0	0	10326	1299	45	1	15364	1	NEB	2	152476075	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	97039427	152476075	90723298	15	6334										
FAP	2191	genome.wustl.edu	37	chr2	163051248	163051248	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tcatgaagggtggaaatgggGatgcctgggcctgtgggcag	19	6	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:163051248G>A	ENST00000188790.4	-	17	1620	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	FAP_ENST00000443424.1_Silent_p.I446I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGGAAATGGGGATGCCTGGGC	0.443																																																	0													160	142	148					2																	163051248		2203	4300	6503	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1413C>T	2.37:g.163051248G>A				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I471	ENST00000188790.4	37	c.1413	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9B		0.443	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163051248	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	silent	SNP	0.980	A	A	163051248	G	A	163051248	2	1	47	1	0	0	0	0	0	0	0	1	5691	1164	41	1		1	FAP	2	163051248	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	10575173	163051248	80148125	16	6335										
SCN7A	6332	genome.wustl.edu	37	chr2	167262620	167262620	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	atcttcactcaaggtcttgtTtttcttcttagaagcaatat	5	8	6	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:167262620T>G	ENST00000409855.1	-	25	4645	c.4519A>C	c.(4519-4521)Aac>Cac	p.N1507H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1507					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGGTCTTGTTTTTCTTCTTA	0.328																																																	0													30	30	30					2																	167262620		1816	4095	5911	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4519A>C	2.37:g.167262620T>G	ENSP00000386796:p.Asn1507His			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.N1507H	ENST00000409855.1	37	c.4519	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	5.018	0.189028	0.09547	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	T	0.09350	2.99	5.07	-2.29	0.06805	.	1.851840	0.02403	N	0.080836	T	0.07728	0.0194	N	0.11427	0.14	0.09310	N	1	P	0.48162	0.906	B	0.41571	0.36	T	0.41858	-0.9485	10	0.72032	D	0.01	.	10.9549	0.47351	0.0:0.4084:0.0:0.5916	.	1507	Q01118	SCN7A_HUMAN	H	1507	ENSP00000386796:N1507H	ENSP00000259060:N1507H	N	-	1	0	SCN7A	166970866	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	-0.730000	0.04915	-0.345000	0.08325	-0.248000	0.11899	AAC	SCN7A	-	NULL		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	T			167262620	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	0.000	G	G	167262620	T	G	167262620	3	3	47	1	0	0	0	0	1	0	0	0	13953	1841	64	5	533	5	SCN7A	2	167262620	Missense_Mutation	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	4211372	167262620	75936753	17	6336										
DHRS9	10170	genome.wustl.edu	37	chr2	169938392	169938392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cccagtgggtgaagaaccaaGttggggagaaaggtgagaga	17	5	0	5			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:169938392G>T	ENST00000327239.4	+	5	1805	c.301G>T	c.(301-303)Gtt>Ttt	p.V101F	DHRS9_ENST00000412271.1_Missense_Mutation_p.V101F|DHRS9_ENST00000432060.2_Missense_Mutation_p.V161F|DHRS9_ENST00000357546.2_Missense_Mutation_p.V101F|DHRS9_ENST00000428522.1_Missense_Mutation_p.V101F|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000436483.2_Missense_Mutation_p.V101F|DHRS9_ENST00000602501.1_Missense_Mutation_p.V101F	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	101					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAAGAACCAAGTTGGGGAGAA	0.473																																																	0													40	40	40					2																	169938392		2203	4300	6503	SO:0001583	missense	10170			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.301G>T	2.37:g.169938392G>T	ENSP00000316670:p.Val101Phe		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.V161F	ENST00000327239.4	37	c.481	CCDS2231.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843427	0.91197	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.63	5.63	0.86233	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	N	0.16266	0.395	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	D;D	0.81914	0.991;0.995	D	0.90661	0.4590	10	0.87932	D	0	.	19.6317	0.95708	0.0:0.0:1.0:0.0	.	161;101	B7Z416;Q9BPW9	.;DHRS9_HUMAN	F	101;101;161;101;101;101	ENSP00000316670:V101F;ENSP00000350154:V101F;ENSP00000389241:V161F;ENSP00000388564:V101F;ENSP00000407167:V101F;ENSP00000407747:V101F	ENSP00000316670:V101F	V	+	1	0	DHRS9	169646638	1.000000	0.71417	0.778000	0.31720	0.952000	0.60782	6.107000	0.71517	2.818000	0.97014	0.591000	0.81541	GTT	DHRS9	-	pfam_DH_sc/Rdtase_SDR		0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	HGNC	protein_coding	OTTHUMT00000333612.3	G	NM_005771		169938392	1	no_errors	ENST00000432060	ensembl	human	known	70_37	missense	SNP	0.999	T	T	169938392	G	T	169938392	3	4	47	1	0	0	0	0	1	0	0	0	4508	1029	36	4	303	4	DHRS9	2	169938392	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	2675772	169938392	73260981	18	6337										
MRPL44	65080	genome.wustl.edu	37	chr2	224824505	224824508	+	Frame_Shift_Del	DEL	ACCC	ACCC	-													0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	acagtttcttgaagacgagtAcccagacatgcccactgaag							TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	ACCC	ACCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:224824505_224824508delACCC	ENST00000258383.3	+	2	503_506	c.434_437delACCC	c.(433-438)tacccafs	p.YP145fs		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	145	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.Y145Y(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAGACGAGTACCCAGACATGCCC	0.422																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001589	frameshift_variant	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.434_437delACCC	2.37:g.224824505_224824508delACCC	ENSP00000258383:p.Tyr145fs		Q53S16|Q6IA62|Q9H821	Frame_Shift_Del	DEL	superfamily_RNase_III_dom,pfscan_Ds-RNA-bd	p.Y145fs	ENST00000258383.3	37	c.434_437	CCDS2459.1	2																																																																																			MRPL44	-	superfamily_RNase_III_dom		0.422	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	HGNC	protein_coding	OTTHUMT00000256866.2	ACCC	NM_022915		224824508	1	no_errors	ENST00000258383	ensembl	human	known	70_37	frame_shift_del	DEL	0.011:0.564:0.998:1.000	-	-	224824508	ACCC	-	224824505	7	5	47	1	0	1	0	1	0	0	0	0	9831	391	14	0	440	0	MRPL44	2	224824505	Frame_Shift_Del	DEL	ACCC	TCGA-C5-A7CO-01A-11D-A351-09	54886113	224824505	18374868	19	6338										
UBE2E1	7324	genome.wustl.edu	37	chr3	23930675	23930675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tttgcttggacatattgaaaGataattggagtccagcacta	9	6	0	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:23930675G>C	ENST00000306627.3	+	5	628	c.409G>C	c.(409-411)Gat>Cat	p.D137H	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000467766.1_Missense_Mutation_p.D104H|UBE2E1_ENST00000424381.1_Missense_Mutation_p.D104H|UBE2E1_ENST00000346855.3_Missense_Mutation_p.D120H	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						CATATTGAAAGATAATTGGAG	0.338																																																	0													161	153	156					3																	23930675		2202	4298	6500	SO:0001583	missense	7324			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"Ubiquitin-conjugating enzymes E2"	12477	protein-coding gene	gene with protein product		602916	"ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.409G>C	3.37:g.23930675G>C	ENSP00000303709:p.Asp137His		B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D137H	ENST00000306627.3	37	c.409	CCDS2638.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.345326	0.95807	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000442670;ENST00000424381;ENST00000452012	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.91	5.91	0.95273	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.071833	0.56097	N	0.000031	D	0.87273	0.6136	M	0.80183	2.485	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.99	D;D;P	0.67548	0.952;0.952;0.857	D	0.87817	0.2635	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	104;137;137	B7Z306;C9J2P0;P51965	.;.;UB2E1_HUMAN	H	137;120;137;104;95	ENSP00000303709:D137H;ENSP00000329113:D120H;ENSP00000410652:D137H;ENSP00000411351:D104H;ENSP00000393088:D95H	ENSP00000303709:D137H	D	+	1	0	UBE2E1	23905679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAT	UBE2E1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.338	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2	G	NM_003341		23930675	1	no_errors	ENST00000306627	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23930675	G	C	23930675	3	2	47	1	0	0	0	0	1	0	0	0	16883	942	33	1	423	1	UBE2E1	3	23930675	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		23930675	174091755	20	6339										
ZNF860	344787	genome.wustl.edu	37	chr3	32030845	32030845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	acacagggacattagaaagaCatgaaagtcatcacattgga	9	7	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:32030845C>A	ENST00000360311.4	+	2	823	c.274C>A	c.(274-276)Cat>Aat	p.H92N		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						ATTAGAAAGACATGAAAGTCA	0.388																																																	0													85	67	72					3																	32030845		692	1591	2283	SO:0001583	missense	344787			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.274C>A	3.37:g.32030845C>A	ENSP00000373274:p.His92Asn		B4DFA4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H92N	ENST00000360311.4	37	c.274	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262738	0.23051	.	.	ENSG00000197385	ENST00000360311	T	0.04654	3.58	0.345	0.345	0.16011	Krueppel-associated box (1);	.	.	.	.	T	0.05914	0.0154	M	0.72479	2.2	0.22581	N	0.998963	P	0.43633	0.813	B	0.36289	0.221	T	0.30592	-0.9973	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	92	A6NHJ4	ZN860_HUMAN	N	92	ENSP00000373274:H92N	.	H	+	1	0	ZNF860	32005849	0.000000	0.05858	0.091000	0.20842	0.086000	0.17979	-0.291000	0.08343	0.392000	0.25172	0.393000	0.25936	CAT	ZNF860	-	pfscan_Krueppel-associated_box		0.388	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	C			32030845	1	no_errors	ENST00000360311	ensembl	human	known	70_37	missense	SNP	0.995	A	A	32030845	C	A	32030845	3	1	47	1	0	0	0	0	1	0	0	0	18224	478	17	4	276	4	ZNF860	3	32030845	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	8100170	32030845	165991585	21	6340										
SCN5A	6331	genome.wustl.edu	37	chr3	38627473	38627473	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	agtgcccccactgagttcccGatgatcttgatgagtgtgtt	11	10	1	4			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:38627473G>A	ENST00000333535.4	-	16	2645	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	SCN5A_ENST00000423572.2_Silent_p.I832I|SCN5A_ENST00000455624.2_Silent_p.I832I|SCN5A_ENST00000450102.2_Silent_p.I832I|SCN5A_ENST00000449557.2_Silent_p.I832I|SCN5A_ENST00000414099.2_Silent_p.I832I|SCN5A_ENST00000443581.1_Silent_p.I832I|SCN5A_ENST00000425664.1_Silent_p.I832I|SCN5A_ENST00000451551.2_Silent_p.I832I|SCN5A_ENST00000413689.1_Silent_p.I832I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	832					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGAGTTCCCGATGATCTTGA	0.557																																																	0													110	109	109					3																	38627473		2203	4300	6503	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2496C>T	3.37:g.38627473G>A			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.I832	ENST00000333535.4	37	c.2496	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	G	NM_198056		38627473	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38627473	G	A	38627473	2	1	47	1	0	0	0	0	0	0	0	1	13952	1048	37	1		1	SCN5A	3	38627473	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	6596628	38627473	159394957	22	6341										
CX3CR1	1524	genome.wustl.edu	37	chr3	39307021	39307021	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcctgctcctttgtgattcaGatgaggagaaatcaacgtgg	12	8	2	4			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:39307021G>C	ENST00000541347.1	-	2	1219	c.980C>G	c.(979-981)tCt>tGt	p.S327C	CX3CR1_ENST00000358309.3_Missense_Mutation_p.S359C|CX3CR1_ENST00000542107.1_Missense_Mutation_p.S327C|CX3CR1_ENST00000399220.2_Missense_Mutation_p.S327C	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	327					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTGATTCAGATGAGGAGAA	0.488																																																	0													133	131	132					3																	39307021		1964	4166	6130	SO:0001583	missense	1524			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.980C>G	3.37:g.39307021G>C	ENSP00000439140:p.Ser327Cys		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.S359C	ENST00000541347.1	37	c.1076	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906159	0.33628	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.7	4.77	0.60923	.	3.212480	0.00644	N	0.000537	T	0.43634	0.1256	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.31888	-0.9927	10	0.62326	D	0.03	.	12.3188	0.54973	0.0:0.0:0.7142:0.2858	.	327	P49238	CX3C1_HUMAN	C	327;335;359;327;327	ENSP00000382166:S327C;ENSP00000351059:S359C;ENSP00000439140:S327C;ENSP00000444928:S327C	ENSP00000351059:S359C	S	-	2	0	CX3CR1	39282025	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	0.166000	0.16583	2.703000	0.92315	0.655000	0.94253	TCT	CX3CR1	-	NULL		0.488	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	G	NM_001337		39307021	-1	no_errors	ENST00000358309	ensembl	human	known	70_37	missense	SNP	0.002	C	C	39307021	G	C	39307021	3	2	47	1	0	0	0	0	1	0	0	0	4080	942	33	1	91	1	CX3CR1	3	39307021	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	679548	39307021	158715409	23	6342										
SETD2	29072	genome.wustl.edu	37	chr3	47163506	47163506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	agcaatacctgaactcccaaTaggttgatataaatcatcaa	5	9	2	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:47163506T>C	ENST00000409792.3	-	3	2662	c.2620A>G	c.(2620-2622)Att>Gtt	p.I874V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	874					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAACTCCCAATAGGTTGATAT	0.393			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													73	75	74					3																	47163506		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2620A>G	3.37:g.47163506T>C	ENSP00000386759:p.Ile874Val		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.I874V	ENST00000409792.3	37	c.2620	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.228718	0.00280	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87179	-2.22;1.67	4.99	-6.35	0.01975	.	0.625481	0.14860	N	0.294151	T	0.61362	0.2341	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61033	-0.7144	10	0.02654	T	1	.	8.782	0.34798	0.0:0.529:0.2752:0.1958	.	874;874	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	874;874;874;830	ENSP00000386759:I874V;ENSP00000416401:I830V	ENSP00000386759:I874V	I	-	1	0	SETD2	47138510	0.000000	0.05858	0.010000	0.14722	0.611000	0.37282	-0.588000	0.05774	-1.053000	0.03218	-0.331000	0.08364	ATT	SETD2	-	NULL		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	T	NM_014159		47163506	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.001	C	C	47163506	T	C	47163506	3	2	47	1	0	0	0	0	1	0	0	0	14161	1406	49	5	5150	5	SETD2	3	47163506	Missense_Mutation	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	7856485	47163506	150858924	24	6343										
MYH15	22989	genome.wustl.edu	37	chr3	108149738	108149738	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcctttctcattctccacttTtgaattcatctgactcaatt	3	12	5	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:108149738T>A	ENST00000273353.3	-	27	3369	c.3313A>T	c.(3313-3315)Aaa>Taa	p.K1105*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1105						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTCCACTTTTGAATTCATC	0.299																																																	0													91	84	86					3																	108149738		1814	4079	5893	SO:0001587	stop_gained	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3313A>T	3.37:g.108149738T>A	ENSP00000273353:p.Lys1105*			Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K1105*	ENST00000273353.3	37	c.3313	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	39	7.681867	0.98431	.	.	ENSG00000144821	ENST00000273353	.	.	.	5.22	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5834	0.50904	0.0:0.0737:0.0:0.9263	.	.	.	.	X	1105	.	ENSP00000273353:K1105X	K	-	1	0	MYH15	109632428	0.011000	0.17503	0.288000	0.24862	0.545000	0.35147	1.490000	0.35573	2.088000	0.63022	0.455000	0.32223	AAA	MYH15	-	pfam_Myosin_tail		0.299	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	T	XM_036988		108149738	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	nonsense	SNP	0.289	A	A	108149738	T	A	108149738	4	1	47	1	0	0	0	0	0	1	0	0	10057	1850	64	5	2591	5	MYH15	3	108149738	Nonsense_Mutation	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	60986232	108149738	89872692	25	6344										
MORC1	27136	genome.wustl.edu	37	chr3	108688569	108688569	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ctgctctgggcactgctccaGctgttttcataaatgataat	8	10	2	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:108688569G>A	ENST00000483760.1	-	25	2531	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	MORC1_ENST00000232603.5_Splice_Site_p.L851L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGCTCCAGCTGTTTTCAT	0.363																																																	0													103	96	99					3																	108688569		2203	4300	6503	SO:0001630	splice_region_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2488-1C>T	3.37:g.108688569G>A				Silent	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.L851	ENST00000483760.1	37	c.2551		3																																																																																			MORC1	-	NULL		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G		Silent	108688569	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	silent	SNP	0.996	A	A	108688569	G	A	108688569	5	1	47	1	0	0	0	0	0	0	1	0	9724	985	34	4	415	4	MORC1	3	108688569	Splice_Site	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	538831	108688569	89333861	26	6345										
STXBP5L	9515	genome.wustl.edu	37	chr3	120957831	120957831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ctattagttttccaatctttGaaaatccatatcccatggac	4	10	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:120957831G>C	ENST00000273666.6	+	13	1469	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E400Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E400Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E400Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E400Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	400					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCAATCTTTGAAAATCCATA	0.313																																																	0													50	46	47					3																	120957831		1817	4077	5894	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1198G>C	3.37:g.120957831G>C	ENSP00000273666:p.Glu400Gln		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E400Q	ENST00000273666.6	37	c.1198	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275244	0.80580	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.61627	1.91;0.09;0.09;1.21;0.09;0.09	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.35644	1.08	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.62671	-0.6805	10	0.27082	T	0.32	-39.6187	18.4118	0.90554	0.0:0.0:1.0:0.0	.	400;400	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	400	ENSP00000273666:E400Q;ENSP00000420019:E400Q;ENSP00000419627:E400Q;ENSP00000420287:E400Q;ENSP00000420666:E400Q;ENSP00000420167:E400Q	ENSP00000273666:E400Q	E	+	1	0	STXBP5L	122440521	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.604000	0.98317	2.582000	0.87167	0.655000	0.94253	GAA	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	G			120957831	1	no_errors	ENST00000273666	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120957831	G	C	120957831	3	2	47	1	0	0	0	0	1	0	0	0	15387	1291	45	1	1244	1	STXBP5L	3	120957831	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	12269262	120957831	77064599	27	6346										
PARP9	83666	genome.wustl.edu	37	chr3	122247475	122247475	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ccctggcagaagaagcctgtGagtacttcagcctcaaacac	9	13	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:122247475G>A	ENST00000360356.2	-	11	2528	c.2301C>T	c.(2299-2301)ctC>ctT	p.L767L	PARP9_ENST00000492382.1_Silent_p.L312L|PARP9_ENST00000471785.1_Silent_p.L732L|PARP9_ENST00000477522.2_Silent_p.L732L	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	767	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AGAAGCCTGTGAGTACTTCAG	0.468																																																	0													112	110	111					3																	122247475		2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2301C>T	3.37:g.122247475G>A			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L767	ENST00000360356.2	37	c.2301	CCDS3014.1	3																																																																																			PARP9	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.468	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	G	NM_031458		122247475	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	silent	SNP	0.972	A	A	122247475	G	A	122247475	2	1	47	1	0	0	0	0	0	0	0	1	11490	1277	45	1		1	PARP9	3	122247475	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	1289644	122247475	75774955	28	6347										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ctcaagaagcagaaagggaaGaattttttgatgaaacaaga	10	4	1	6			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E81K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	8	Substitution - Missense(8)	endometrium(4)|large_intestine(3)|breast(1)											107	101	103					3																	178916854		1820	4081	5901	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E81K	ENST00000263967.3	37	c.241	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178916854	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178916854	G	A	178916854	3	1	47	1	0	0	0	0	1	0	0	0	11937	943	33	1	243	1	PIK3CA	3	178916854	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	56669379	178916854	19105576	29	6348										
JAKMIP1	152789	genome.wustl.edu	37	chr4	6037785	6037785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cctcaccggccctccgccccGgctcctgctgcagcgctgtg	11	21	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:6037785G>A	ENST00000409021.3	-	19	2674	c.2225C>T	c.(2224-2226)cCg>cTg	p.P742L	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.P557L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	99					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCCGCCCCGGCTCCTGCTG	0.647																																																	0													9	11	10					4																	6037785		2008	4116	6124	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2225C>T	4.37:g.6037785G>A	ENSP00000386711:p.Pro742Leu		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.P742L	ENST00000409021.3	37	c.2225	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328558	0.24167	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.29655	1.98;1.56	4.79	3.93	0.45458	.	0.342925	0.19131	U	0.121939	T	0.18676	0.0448	.	.	.	0.80722	D	1	B;P	0.35700	0.259;0.516	B;B	0.28709	0.042;0.093	T	0.04427	-1.0952	9	0.30854	T	0.27	.	7.7376	0.28823	0.0866:0.1661:0.7473:0.0	.	557;742	Q96N16-5;Q96N16-2	.;.	L	742;557	ENSP00000386711:P742L;ENSP00000387042:P557L	ENSP00000386711:P742L	P	-	2	0	JAKMIP1	6088686	1.000000	0.71417	0.330000	0.25442	0.202000	0.24057	6.043000	0.71004	0.982000	0.38575	0.436000	0.28706	CCG	JAKMIP1	-	NULL		0.647	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	G	NM_144720		6037785	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	missense	SNP	0.886	A	A	6037785	G	A	6037785	3	1	47	1	0	0	0	0	1	0	0	0	7960	1116	39	2	282	2	JAKMIP1	4	6037785	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		6037785	185116491	30	6349										
SLC34A2	10568	genome.wustl.edu	37	chr4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-													0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	caccggctgcttccagatgcGctgctgctgctgctgccgcg							TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0																																										SO:0001651	inframe_deletion	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.C621in_frame_del	ENST00000382051.3	37	c.1850_1852	CCDS3435.1	4																																																																																			SLC34A2	-	NULL		0.64	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	GCT	NM_006424		25678150	1	no_errors	ENST00000382051	ensembl	human	known	70_37	in_frame_del	DEL	0.353:0.958:1.000	-	-	25678150	GCT	-	25678148	7	5	47	1	0	1	0	1	0	0	0	0	14598	1087	38	0	1896	0	SLC34A2	4	25678148	In_Frame_Del	DEL	GCT	TCGA-C5-A7CO-01A-11D-A351-09	19640363	25678148	165476128	31	6350										
FRYL	285527	genome.wustl.edu	37	chr4	48542058	48542058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aatgctggattaagtgaggcAataagcaaaggatgttaaga	12	3	0	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:48542058A>G	ENST00000503238.1	-	44	6322	c.6323T>C	c.(6322-6324)tTg>tCg	p.L2108S	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L2108S|FRYL_ENST00000358350.4_Missense_Mutation_p.L2108S			O94915	FRYL_HUMAN	FRY-like	2108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TAAGTGAGGCAATAAGCAAAG	0.318																																																	0													104	91	95					4																	48542058		1849	4091	5940	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6323T>C	4.37:g.48542058A>G	ENSP00000426064:p.Leu2108Ser		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L2108S	ENST00000503238.1	37	c.6323	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179980	0.78564	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.41065	1.01;1.01;1.01	5.86	5.86	0.93980	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.994;0.974	T	0.68198	-0.5472	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	938;2108;2108	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	S	2108	ENSP00000426064:L2108S;ENSP00000351113:L2108S;ENSP00000441114:L2108S	ENSP00000351113:L2108S	L	-	2	0	FRYL	48236815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	TTG	FRYL	-	superfamily_ARM-type_fold		0.318	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	A			48542058	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48542058	A	G	48542058	3	3	47	1	0	0	0	0	1	0	0	0	6082	131	5	5	2790	5	FRYL	4	48542058	Missense_Mutation	SNP	A	TCGA-C5-A7CO-01A-11D-A351-09	22863910	48542058	142612218	32	6351										
GUCY1B3	2983	genome.wustl.edu	37	chr4	156698760	156698760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tggttatgatacaatcttgcGtgtcctgggctctaatgtca	10	8	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:156698760G>A	ENST00000264424.8	+	4	345	c.263G>A	c.(262-264)cGt>cAt	p.R88H	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R68H|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R20H|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R20H|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R20H|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R88H|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R88H	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	88					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAATCTTGCGTGTCCTGGGC	0.353																																																	0													167	155	159					4																	156698760		1834	4082	5916	SO:0001583	missense	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.263G>A	4.37:g.156698760G>A	ENSP00000264424:p.Arg88His		B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R88H	ENST00000264424.8	37	c.263	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.268897	0.95429	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.44	5.44	0.79542	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.051152	0.85682	D	0.000000	T	0.61451	0.2348	L	0.53729	1.69	0.80722	D	1	D;D;D;D;P	0.76494	0.999;0.994;0.979;0.998;0.8	D;D;P;P;B	0.66847	0.912;0.947;0.663;0.817;0.243	T	0.62779	-0.6782	10	0.87932	D	0	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	68;88;20;88;88	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	H	20;88;68;20;88;88;20	ENSP00000427226:R20H;ENSP00000426786:R88H;ENSP00000426319:R68H;ENSP00000422313:R20H;ENSP00000264424:R88H;ENSP00000420842:R88H;ENSP00000425065:R20H	ENSP00000264424:R88H	R	+	2	0	GUCY1B3	156918210	1.000000	0.71417	0.964000	0.40570	0.896000	0.52359	9.382000	0.97209	2.703000	0.92315	0.655000	0.94253	CGT	GUCY1B3	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd		0.353	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	G			156698760	1	no_errors	ENST00000264424	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156698760	G	A	156698760	3	1	47	1	0	0	0	0	1	0	0	0	6915	1145	40	2	277	2	GUCY1B3	4	156698760	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	108156702	156698760	34455516	33	6352										
PTGER4	5734	genome.wustl.edu	37	chr5	40691969	40691969	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcaggccatccgaattgcttCtgtgaaccccatcctagacc	8	15	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:40691969C>T	ENST00000302472.3	+	3	1980	c.956C>T	c.(955-957)tCt>tTt	p.S319F		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	319					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CGAATTGCTTCTGTGAACCCC	0.458																																																	0													112	115	114					5																	40691969		2203	4300	6503	SO:0001583	missense	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.956C>T	5.37:g.40691969C>T	ENSP00000302846:p.Ser319Phe		Q3MJ87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S319F	ENST00000302472.3	37	c.956	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653549	0.67472	.	.	ENSG00000171522	ENST00000302472	T	0.71817	-0.6	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.184196	0.49305	D	0.000141	T	0.81678	0.4873	M	0.90870	3.155	0.80722	D	1	B	0.25772	0.134	B	0.35727	0.209	T	0.80867	-0.1190	10	0.48119	T	0.1	-1.0075	19.5183	0.95174	0.0:1.0:0.0:0.0	.	319	P35408	PE2R4_HUMAN	F	319	ENSP00000302846:S319F	ENSP00000302846:S319F	S	+	2	0	PTGER4	40727726	0.998000	0.40836	0.929000	0.37066	0.987000	0.75469	7.487000	0.81328	2.613000	0.88420	0.467000	0.42956	TCT	PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40691969	1	no_errors	ENST00000302472	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40691969	C	T	40691969	3	4	47	1	0	0	0	0	1	0	0	0	12773	913	32	1	962	1	PTGER4	5	40691969	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		40691969	140223291	34	6353										
PLCXD3	345557	genome.wustl.edu	37	chr5	41382227	41382227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tcctgggcaaaaatcgctggGcacattttatttccatagat	8	9	0	1	rs534972623		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:41382227G>A	ENST00000377801.3	-	2	587	c.513C>T	c.(511-513)tgC>tgT	p.C171C	PLCXD3_ENST00000328457.3_Silent_p.C171C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	171	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAATCGCTGGGCACATTTTAT	0.433																																																	0													101	102	102					5																	41382227		2203	4300	6503	SO:0001819	synonymous_variant	345557				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.513C>T	5.37:g.41382227G>A			A6NL04	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.C171	ENST00000377801.3	37	c.513	CCDS34150.1	5																																																																																			PLCXD3	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	G	XM_293875		41382227	-1	no_errors	ENST00000328457	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41382227	G	A	41382227	2	1	47	1	0	0	0	0	0	0	0	1	12067	1195	42	4		4	PLCXD3	5	41382227	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	690258	41382227	139533033	35	6354										
MSH3	4437	genome.wustl.edu	37	chr5	80071547	80071547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aaagaactctgctgtatcttGtataccaactgattgggtaa	8	7	2	2	rs373251342		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:80071547G>A	ENST00000265081.6	+	16	2368	c.2288G>A	c.(2287-2289)tGt>tAt	p.C763Y		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	763					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTGTATCTTGTATACCAACT	0.294								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													64	67	66					5																	80071547		2203	4298	6501	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2288G>A	5.37:g.80071547G>A	ENSP00000265081:p.Cys763Tyr		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.C763Y	ENST00000265081.6	37	c.2288	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893399	0.17613	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89196	-2.48	5.54	4.66	0.58398	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.376475	0.33110	N	0.005268	D	0.87857	0.6283	L	0.36672	1.1	0.38814	D	0.955491	D	0.57571	0.98	P	0.54431	0.752	D	0.86823	0.2006	9	.	.	.	-9.775	11.7747	0.51979	0.0:0.3091:0.6909:0.0	.	763	P20585	MSH3_HUMAN	Y	763;754	ENSP00000265081:C763Y	.	C	+	2	0	MSH3	80107303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.243000	0.43115	2.607000	0.88179	0.585000	0.79938	TGT	MSH3	-	pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.294	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	G	NM_002439		80071547	1	no_errors	ENST00000265081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80071547	G	A	80071547	3	1	47	1	0	0	0	0	1	0	0	0	9894	1377	48	4	2350	4	MSH3	5	80071547	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	38689320	80071547	100843713	36	6355										
VCAN	1462	genome.wustl.edu	37	chr5	82817176	82817176	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cgccttgaagcgactatttcTccagaaactatgagaacaac	7	11	1	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:82817176T>G	ENST00000265077.3	+	7	3616	c.3051T>G	c.(3049-3051)tcT>tcG	p.S1017S	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.S969S|VCAN_ENST00000342785.4_Silent_p.S1017S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1017	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGACTATTTCTCCAGAAACTA	0.428																																																	0													44	44	44					5																	82817176		2203	4299	6502	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3051T>G	5.37:g.82817176T>G			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1017	ENST00000265077.3	37	c.3051	CCDS4060.1	5																																																																																			VCAN	-	NULL		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	T	NM_004385		82817176	1	no_errors	ENST00000265077	ensembl	human	known	70_37	silent	SNP	0.002	G	G	82817176	T	G	82817176	2	3	47	1	0	0	0	0	0	0	0	1	17169	1538	54	5		5	VCAN	5	82817176	Silent	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	2745629	82817176	98098084	37	6356										
DCP2	167227	genome.wustl.edu	37	chr5	112327822	112327822	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ttgacactatttatactcttCagtcattgtccgtttttgct	5	9	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:112327822C>T	ENST00000389063.2	+	3	408	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.F70F	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	70					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTATACTCTTCAGTCATTGTC	0.338																																																	0													187	175	179					5																	112327822		2202	4300	6502	SO:0001819	synonymous_variant	167227			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.210C>T	5.37:g.112327822C>T			C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.F70	ENST00000389063.2	37	c.210	CCDS34210.1	5																																																																																			DCP2	-	pfam_mRNA_decapping_BoxA		0.338	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	HGNC	protein_coding	OTTHUMT00000370765.3	C	NM_152624		112327822	1	no_errors	ENST00000389063	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112327822	C	T	112327822	2	4	47	1	0	0	0	0	0	0	0	1	4305	825	29	1		1	DCP2	5	112327822	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	29510646	112327822	68587438	38	6357										
PCDHA9	9752	genome.wustl.edu	37	chr5	140230183	140230183	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gatgtcaacgtgtacctgatCatcgccatctgcgcggtgtc	11	12	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:140230183C>G	ENST00000532602.1	+	1	3136	c.2103C>G	c.(2101-2103)atC>atG	p.I701M	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.I701M|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	701					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.667																																					Melanoma(55;1800 1972 14909)												0													80	73	75					5																	140230183		2196	4273	6469	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2103C>G	5.37:g.140230183C>G	ENSP00000436042:p.Ile701Met		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I701M	ENST00000532602.1	37	c.2103	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745085	0.49151	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57752	0.44;0.38	4.3	3.36	0.38483	.	0.000000	0.31989	U	0.006746	T	0.74764	0.3759	H	0.94658	3.565	0.25180	N	0.990218	D;D	0.76494	0.999;0.999	D;D	0.83275	0.937;0.996	T	0.66320	-0.5953	10	0.87932	D	0	.	5.1875	0.15191	0.1466:0.6275:0.1425:0.0834	.	701;701	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	701	ENSP00000436042:I701M;ENSP00000367362:I701M	ENSP00000367362:I701M	I	+	3	3	PCDHA9	140210367	0.049000	0.20398	0.998000	0.56505	0.755000	0.42902	-0.107000	0.10873	2.070000	0.61991	0.491000	0.48974	ATC	PCDHA9	-	NULL		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140230183	1	no_errors	ENST00000532602	ensembl	human	known	70_37	missense	SNP	0.988	G	G	140230183	C	G	140230183	3	3	47	1	0	0	0	0	1	0	0	0	11555	816	29	1	2105	1	PCDHA9	5	140230183	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	27902361	140230183	40685077	39	6358										
PCDHB14	56122	genome.wustl.edu	37	chr5	140603943	140603943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ccatgcatcagaagatattcGtaaaacatttgaaattaatc	5	7	1	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:140603943G>A	ENST00000239449.4	+	1	866	c.866G>A	c.(865-867)cGt>cAt	p.R289H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R136H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGATATTCGTAAAACATTT	0.378																																					Ovarian(141;50 1831 27899 33809 37648)												0													43	47	45					5																	140603943		2201	4300	6501	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.866G>A	5.37:g.140603943G>A	ENSP00000239449:p.Arg289His		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R289H	ENST00000239449.4	37	c.866	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	9.215	1.031793	0.19590	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52526	0.66;0.66	4.75	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45216	0.1331	M	0.77712	2.385	0.09310	N	1	B	0.23806	0.091	B	0.16289	0.015	T	0.38520	-0.9657	9	0.33940	T	0.23	.	6.3613	0.21431	0.095:0.0:0.7243:0.1807	.	289	Q9Y5E9	PCDBE_HUMAN	H	136;289	ENSP00000444518:R136H;ENSP00000239449:R289H	ENSP00000239449:R289H	R	+	2	0	PCDHB14	140584127	0.000000	0.05858	0.081000	0.20488	0.892000	0.51952	-0.478000	0.06575	1.131000	0.42111	0.655000	0.94253	CGT	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	G	NM_018934		140603943	1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.001	A	A	140603943	G	A	140603943	3	1	47	1	0	0	0	0	1	0	0	0	11563	1145	40	2	868	2	PCDHB14	5	140603943	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	373760	140603943	40311317	40	6359										
CDHR2	54825	genome.wustl.edu	37	chr5	176004413	176004413	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tttacagggcagcaatggcaCcttcctgttgtcgctggggg	14	10	0	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:176004413C>G	ENST00000510636.1	+	13	1482	c.1208C>G	c.(1207-1209)aCc>aGc	p.T403S	CDHR2_ENST00000261944.5_Missense_Mutation_p.T403S|CDHR2_ENST00000506348.1_Missense_Mutation_p.T403S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCAATGGCACCTTCCTGTTG	0.637																																																	0													21	25	24					5																	176004413		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1208C>G	5.37:g.176004413C>G	ENSP00000424565:p.Thr403Ser		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T403S	ENST00000510636.1	37	c.1208	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122933	0.20959	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60299	0.2;0.2;0.2	4.38	4.38	0.52667	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.49643	0.1569	M	0.66439	2.03	0.34856	D	0.742129	P	0.40834	0.73	B	0.32533	0.147	T	0.61272	-0.7096	9	0.22109	T	0.4	-32.574	12.4216	0.55524	0.1669:0.8331:0.0:0.0	.	403	Q9BYE9	CDHR2_HUMAN	S	403	ENSP00000424565:T403S;ENSP00000261944:T403S;ENSP00000421078:T403S	ENSP00000261944:T403S	T	+	2	0	CDHR2	175937019	1.000000	0.71417	0.999000	0.59377	0.203000	0.24098	1.575000	0.36493	2.442000	0.82660	0.448000	0.29417	ACC	CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675		176004413	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176004413	C	G	176004413	3	3	47	1	0	0	0	0	1	0	0	0	3124	507	18	4	1254	4	CDHR2	5	176004413	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	35400470	176004413	4910847	41	6360										
GRM6	2916	genome.wustl.edu	37	chr5	178418889	178418889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	agcctctcgggagatctgaaCgaaggcctcaaccccacttt	9	14	3	2	rs373706529		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:178418889C>T	ENST00000517717.1	-	3	738	c.700G>A	c.(700-702)Gtt>Att	p.V234I	GRM6_ENST00000231188.5_Missense_Mutation_p.V234I|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	234					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.V234I(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAGATCTGAACGAAGGCCTCA	0.622																																																	1	Substitution - Missense(1)	endometrium(1)						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	65	56	59		700	5.5	1	5		59	0,8600		0,0,4300	no	missense	GRM6	NM_000843.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	234/878	178418889	1,13005	2203	4300	6503	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.700G>A	5.37:g.178418889C>T	ENSP00000430767:p.Val234Ile			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.V234I	ENST00000517717.1	37	c.700	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883801	0.33255	2.27E-4	0.0	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.82984	-1.67;-1.67	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.66287	0.2774	N	0.05177	-0.1	0.34774	D	0.734039	B	0.15141	0.012	B	0.14023	0.01	T	0.67526	-0.5648	9	0.34782	T	0.22	.	10.65	0.45642	0.0:0.9129:0.0:0.0871	.	234	O15303	GRM6_HUMAN	I	182;234;234	ENSP00000231188:V234I;ENSP00000430767:V234I	ENSP00000231188:V234I	V	-	1	0	GRM6	178351495	0.997000	0.39634	1.000000	0.80357	0.639000	0.38242	0.634000	0.24614	2.746000	0.94184	0.655000	0.94253	GTT	GRM6	-	pfam_ANF_lig-bd_rcpt		0.622	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	C			178418889	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178418889	C	T	178418889	3	4	47	1	0	0	0	0	1	0	0	0	6821	536	19	2	1969	2	GRM6	5	178418889	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	2414476	178418889	2496371	42	6361										
SLC35B3	51000	genome.wustl.edu	37	chr6	8413801	8413801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tctatacagtctgtgccagcGtccttgactttcttgcttcc	7	13	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:8413801G>A	ENST00000379660.4	-	11	1636	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	396					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CTGTGCCAGCGTCCTTGACTT	0.318																																					Melanoma(83;700 1353 9357 11478 30548)												0													88	82	84					6																	8413801		2203	4299	6502	SO:0001583	missense	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.1187C>T	6.37:g.8413801G>A	ENSP00000368981:p.Thr396Met		A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	pfam_UAA	p.T396M	ENST00000379660.4	37	c.1187	CCDS4508.1	6	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017863	0.54576	.	.	ENSG00000124786	ENST00000379660	T	0.32988	1.43	5.72	5.72	0.89469	.	0.176851	0.51477	D	0.000082	T	0.23133	0.0559	L	0.57536	1.79	0.80722	D	1	P	0.51240	0.943	B	0.40228	0.323	T	0.03166	-1.1065	9	.	.	.	-14.174	19.8968	0.96969	0.0:0.0:1.0:0.0	.	396	Q9H1N7	S35B3_HUMAN	M	396	ENSP00000368981:T396M	.	T	-	2	0	SLC35B3	8358800	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	4.483000	0.60264	2.691000	0.91804	0.655000	0.94253	ACG	SLC35B3	-	NULL		0.318	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B3	HGNC	protein_coding	OTTHUMT00000039802.1	G	NM_015948		8413801	-1	no_errors	ENST00000379660	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8413801	G	A	8413801	3	1	47	1	0	0	0	0	1	0	0	0	14607	1145	40	2	22	2	SLC35B3	6	8413801	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		8413801	162701266	43	6362										
MAS1L	116511	genome.wustl.edu	37	chr6	29454755	29454755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gaaataaatgatagggttggCgctgctgtttataatgagga	13	3	0	2	rs139603575	byFrequency	TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:29454755C>T	ENST00000377127.3	-	1	983	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	309					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A309T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ATAGGGTTGGCGCTGCTGTTT	0.463													C|||	2	0.000399361	0	0	5008	,	,		16948	0		0.002	False		,,,				2504	0				NSCLC(153;755 1987 3859 11251 32945)												1	Substitution - Missense(1)	ovary(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	57	63	61		925	-0.8	0	6	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MAS1L	NM_052967.1	58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	309/379	29454755	3,13003	2203	4300	6503	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.925G>A	6.37:g.29454755C>T	ENSP00000366331:p.Ala309Thr		Q5SUN5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A309T	ENST00000377127.3	37	c.925	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	C	6.510	0.462378	0.12342	2.27E-4	2.33E-4	ENSG00000204687	ENST00000377127	T	0.37752	1.18	2.36	-0.776	0.10984	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20292	0.0488	M	0.71581	2.175	0.09310	N	1	B	0.23735	0.09	B	0.36289	0.221	T	0.47649	-0.9101	9	0.45353	T	0.12	.	6.7358	0.23409	0.0:0.625:0.0:0.375	.	309	P35410	MAS1L_HUMAN	T	309	ENSP00000366331:A309T	ENSP00000366331:A309T	A	-	1	0	MAS1L	29562734	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.981000	0.01490	-0.376000	0.07943	-1.034000	0.02401	GCC	MAS1L	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	C	NM_052967		29454755	-1	no_errors	ENST00000377127	ensembl	human	known	70_37	missense	SNP	0.001	T	T	29454755	C	T	29454755	3	4	47	1	0	0	0	0	1	0	0	0	9344	768	27	2	213	2	MAS1L	6	29454755	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	21040954	29454755	141660312	44	6363										
HLA-A	3105	genome.wustl.edu	37	chr6	29910398	29910398	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cctggccctgacccagacctGggcgggtgagtgcggggtcg	18	13	0	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:29910398G>A	ENST00000396634.1	+	3	409	c.68G>A	c.(67-69)tGg>tAg	p.W23*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W23*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W23*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W23*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	23					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCCAGACCTGGGCGGGTGAG	0.736									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													21	24	23					6																	29910398		2200	4292	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.68G>A	6.37:g.29910398G>A	ENSP00000379873:p.Trp23*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.W23*	ENST00000396634.1	37	c.68	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	36	5.746721	0.96882	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.72	0.729	0.18266	.	1.554790	0.04923	U	0.455350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4846	0.07615	0.2277:0.0:0.575:0.1972	.	.	.	.	X	23	.	ENSP00000348012:W23X	W	+	2	0	HLA-A	30018377	0.000000	0.05858	0.028000	0.17463	0.549000	0.35272	-0.283000	0.08433	0.032000	0.15435	0.478000	0.44815	TGG	HLA-A	-	NULL		0.736	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910398	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.091	A	A	29910398	G	A	29910398	4	1	47	1	0	0	0	0	0	1	0	0	7215	1357	47	4	70	4	HLA-A	6	29910398	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	455643	29910398	141204669	45	6364										
CUL7	9820	genome.wustl.edu	37	chr6	43006110	43006110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ctcttctccaagttctggccGtcttcaccctcagcttgcag	7	16	6	0	rs377313389		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:43006110G>A	ENST00000265348.3	-	25	4753	c.4668C>T	c.(4666-4668)gaC>gaT	p.D1556D	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.D1640D			Q14999	CUL7_HUMAN	cullin 7	1556					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTTCTGGCCGTCTTCACCCT	0.557													C|||	1	0.000199681	0	0.0014	5008	,	,		19864	0		0	False		,,,				2504	0																0								C	,	0,4406		0,0,2203	129	110	116		4920,4668	3.4	1	6		116	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	CUL7	NM_001168370.1,NM_014780.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	1640/1783,1556/1699	43006110	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4668C>T	6.37:g.43006110G>A			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.D1640	ENST00000265348.3	37	c.4920	CCDS4881.1	6																																																																																			CUL7	-	NULL		0.557	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43006110	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43006110	G	A	43006110	2	1	47	1	0	0	0	0	0	0	0	1	4065	1136	40	2		2	CUL7	6	43006110	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	13095712	43006110	128108957	46	6365										
SLC22A7	10864	genome.wustl.edu	37	chr6	43270123	43270123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	actgctgggcacggccctggCgttcggcactagactgctag	14	13	0	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:43270123C>T	ENST00000372585.5	+	8	1342	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	SLC22A7_ENST00000372589.3_Missense_Mutation_p.A414V|SLC22A7_ENST00000372574.3_Missense_Mutation_p.A414V	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	416					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A416V(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACGGCCCTGGCGTTCGGCACT	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											41	35	37					6																	43270123		2202	4300	6502	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1247C>T	6.37:g.43270123C>T	ENSP00000361666:p.Ala416Val		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A416V	ENST00000372585.5	37	c.1247	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209346	0.39003	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.74947	0.2;0.2;0.2;-0.89	5.27	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.595751	0.17522	N	0.171230	T	0.44052	0.1275	L	0.46819	1.47	0.19300	N	0.999978	B;B;B	0.27316	0.175;0.145;0.145	B;B;B	0.29862	0.108;0.065;0.065	T	0.39981	-0.9587	10	0.02654	T	1	.	11.0316	0.47776	0.0:0.812:0.188:0.0	.	416;414;414	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	V	414;416;414;109	ENSP00000361670:A414V;ENSP00000361666:A416V;ENSP00000361655:A414V;ENSP00000393836:A109V	ENSP00000361655:A414V	A	+	2	0	SLC22A7	43378101	0.006000	0.16342	0.024000	0.17045	0.121000	0.20230	1.858000	0.39408	2.468000	0.83385	0.462000	0.41574	GCG	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.672	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	C			43270123	1	no_errors	ENST00000372585	ensembl	human	known	70_37	missense	SNP	0.007	T	T	43270123	C	T	43270123	3	4	47	1	0	0	0	0	1	0	0	0	14489	768	27	2	1273	2	SLC22A7	6	43270123	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	264013	43270123	127844944	47	6366										
PKHD1	5314	genome.wustl.edu	37	chr6	51921520	51921520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ttcaaatccaagccggagaaGgatgttagaccaaaggggtt	12	7	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:51921520G>T	ENST00000371117.3	-	18	1944	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L557I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	557					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCCGGAGAAGGATGTTAGAC	0.388																																																	0													134	141	138					6																	51921520		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1669C>A	6.37:g.51921520G>T	ENSP00000360158:p.Leu557Ile		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L557I	ENST00000371117.3	37	c.1669	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736036	0.30774	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.34;-2.34	5.4	2.55	0.30701	.	0.000000	0.53938	D	0.000060	D	0.85504	0.5712	M	0.70275	2.135	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.94	T	0.76269	-0.3021	10	0.22706	T	0.39	.	7.1277	0.25482	0.3866:0.0:0.6134:0.0	.	557;557	P08F94-2;P08F94	.;PKHD1_HUMAN	I	557	ENSP00000360158:L557I;ENSP00000341097:L557I	ENSP00000341097:L557I	L	-	1	0	PKHD1	52029479	0.535000	0.26370	0.002000	0.10522	0.169000	0.22640	1.192000	0.32150	0.219000	0.20840	0.462000	0.41574	CTT	PKHD1	-	NULL		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51921520	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.006	T	T	51921520	G	T	51921520	3	4	47	1	0	0	0	0	1	0	0	0	11995	1000	35	4	10794	4	PKHD1	6	51921520	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	8651397	51921520	119193547	48	6367										
TCP10L2	401285	genome.wustl.edu	37	chr6	167585684	167585684	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ccaaggagggcacccacccaGaggacccgtgcccgggagct	14	16	0	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:167585684G>C	ENST00000366832.2	+	2	183	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	18										endometrium(1)|kidney(2)|lung(3)	6						CACCCACCCAGAGGACCCGTG	0.662																																																	0													28	40	36					6																	167585684		692	1591	2283	SO:0001583	missense	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.52G>C	6.37:g.167585684G>C	ENSP00000355797:p.Glu18Gln			Missense_Mutation	SNP	NULL	p.E18Q	ENST00000366832.2	37	c.52	CCDS47514.1	6	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158134	0.38119	.	.	ENSG00000166984	ENST00000486697;ENST00000366832	T	0.20332	2.08	2.61	1.71	0.24356	.	.	.	.	.	T	0.22437	0.0541	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	D	0.75484	0.986	T	0.04115	-1.0976	9	0.66056	D	0.02	.	5.3024	0.15785	0.176:0.0:0.824:0.0	.	18	B9ZVM9	TCP2L_HUMAN	Q	18	ENSP00000355797:E18Q	ENSP00000283507:E18Q	E	+	1	0	TCP10L2	167505674	0.012000	0.17670	0.001000	0.08648	0.008000	0.06430	1.331000	0.33793	0.412000	0.25729	0.416000	0.27883	GAG	TCP10L2	-	NULL		0.662	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TCP10L2	HGNC	protein_coding	OTTHUMT00000043112.5	G	XR_040749		167585684	1	no_errors	ENST00000283507	ensembl	human	known	70_37	missense	SNP	0.001	C	C	167585684	G	C	167585684	3	2	47	1	0	0	0	0	1	0	0	0	15742	943	33	1	54	1	TCP10L2	6	167585684	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	115664164	167585684	3529383	49	6368										
DENND2A	27147	genome.wustl.edu	37	chr7	140302004	140302004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cctgtccgtctgctctcctgCtgggtgcaggagtgggcacc	14	14	2	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:140302004C>T	ENST00000275884.6	-	2	611	c.194G>A	c.(193-195)aGc>aAc	p.S65N	DENND2A_ENST00000496613.1_Missense_Mutation_p.S65N|DENND2A_ENST00000492720.1_Missense_Mutation_p.S65N|DENND2A_ENST00000537639.1_Missense_Mutation_p.S65N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	65					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGCTCTCCTGCTGGGTGCAGG	0.552																																																	0													182	173	176					7																	140302004		1946	4153	6099	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.194G>A	7.37:g.140302004C>T	ENSP00000275884:p.Ser65Asn		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S65N	ENST00000275884.6	37	c.194	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158264	0.21454	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.63	1.66	0.24008	.	2.136720	0.01609	N	0.022454	T	0.67173	0.2865	L	0.27053	0.805	0.09310	N	1	P;B	0.36282	0.546;0.02	B;B	0.33121	0.158;0.039	T	0.53961	-0.8364	10	0.20046	T	0.44	-5.2133	10.7157	0.46011	0.1349:0.5893:0.2758:0.0	.	65;65	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	N	65	ENSP00000275884:S65N;ENSP00000442245:S65N;ENSP00000419654:S65N;ENSP00000419464:S65N;ENSP00000418844:S65N;ENSP00000418088:S65N	ENSP00000275884:S65N	S	-	2	0	DENND2A	139948473	0.197000	0.23362	0.008000	0.14137	0.052000	0.14988	0.111000	0.15458	0.145000	0.18977	0.655000	0.94253	AGC	DENND2A	-	NULL		0.552	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140302004	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	0.006	T	T	140302004	C	T	140302004	3	4	47	1	0	0	0	0	1	0	0	0	4439	797	28	4	2907	4	DENND2A	7	140302004	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		140302004	18836659	50	6369										
FAM115C	285966	genome.wustl.edu	37	chr7	143417134	143417134	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcagcctggagccccatctgAacagcgacttgtgtgtctac	11	13	2	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:143417134A>T	ENST00000441159.2	+	3	1048	c.982A>T	c.(982-984)Aac>Tac	p.N328Y	FAM115C_ENST00000411935.1_Missense_Mutation_p.N164Y|FAM115C_ENST00000425618.2_Missense_Mutation_p.N47Y|FAM115C_ENST00000411497.2_Missense_Mutation_p.N47Y|FAM115C_ENST00000409703.3_Missense_Mutation_p.N164Y|FAM115C_ENST00000444908.2_Missense_Mutation_p.N328Y|FAM115C_ENST00000357344.4_Missense_Mutation_p.N328Y			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	328					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCCCCATCTGAACAGCGACTT	0.562																																																	0													47	49	48					7																	143417134		2132	4278	6410	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.982A>T	7.37:g.143417134A>T	ENSP00000404265:p.Asn328Tyr		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.N328Y	ENST00000441159.2	37	c.982		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	8.392|8.392	0.840037|0.840037	0.16891|0.16891	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|T;T;T;T;T	.|0.22539	.|1.95;1.95;1.95;1.95;1.95	3.58|3.58	1.12|1.12	0.20585|0.20585	.|.	.|0.613195	.|0.18702	.|N	.|0.133560	T|T	0.10337|0.10337	0.0253|0.0253	N|N	0.08118|0.08118	0|0	0.22017|0.22017	N|N	0.999419|0.999419	.|P;B;P;P	.|0.42827	.|0.791;0.404;0.717;0.676	.|B;B;B;B	.|0.43508	.|0.422;0.222;0.177;0.395	T|T	0.11446|0.11446	-1.0587|-1.0587	5|10	.|0.72032	.|D	.|0.01	-16.254|-16.254	3.5351|3.5351	0.07792|0.07792	0.6812:0.0:0.1181:0.2007|0.6812:0.0:0.1181:0.2007	.|.	.|164;328;47;328	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	V|Y	142|328;47;328;328;164;164;47	.|ENSP00000412724:N328Y;ENSP00000349902:N328Y;ENSP00000404265:N328Y;ENSP00000389100:N164Y;ENSP00000386405:N164Y	.|ENSP00000349902:N328Y	E|N	+|+	2|1	0|0	FAM115C|FAM115C	143048067|143048067	0.384000|0.384000	0.25164|0.25164	0.007000|0.007000	0.13788|0.13788	0.026000|0.026000	0.11368|0.11368	0.859000|0.859000	0.27858|0.27858	0.472000|0.472000	0.27344|0.27344	0.338000|0.338000	0.21704|0.21704	GAA|AAC	FAM115C	-	NULL		0.562	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	A	NM_173678		143417134	1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.660	T	T	143417134	A	T	143417134	3	4	47	1	0	0	0	0	1	0	0	0	5421	246	9	5	1123	5	FAM115C	7	143417134	Missense_Mutation	SNP	A	TCGA-C5-A7CO-01A-11D-A351-09	3115130	143417134	15721529	51	6370										
MLL3	58508	genome.wustl.edu	37	chr7	151962134	151962134	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aaaacttacttgcagttctgGcacactttgcactcaggaca	7	11	2	0	rs146238849		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:151962134G>T	ENST00000262189.6	-	8	1391	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C391*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	391					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C391*(2)									TGCAGTTCTGGCACACTTTGC	0.408																																																	2	Substitution - Nonsense(2)	NS(2)											230	213	219					7																	151962134		2203	4297	6500	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1173C>A	7.37:g.151962134G>T	ENSP00000262189:p.Cys391*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C391*	ENST00000262189.6	37	c.1173	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.887843	0.98545	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.53	3.62	0.41486	.	0.000000	0.45867	U	0.000330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2395	0.54534	0.0835:0.0:0.9165:0.0	.	.	.	.	X	391	.	ENSP00000262189:C391X	C	-	3	2	MLL3	151593067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.718000	0.74713	2.206000	0.71126	0.460000	0.39030	TGC	MLL3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151962134	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	151962134	G	T	151962134	4	4	47	1	0	0	0	0	0	1	0	0	9645	1195	42	4	13770	4	MLL3	7	151962134	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	8545000	151962134	7176529	52	6371										
PRSS55	203074	genome.wustl.edu	37	chr8	10396148	10396148	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tcgagaaagtgacccagctaGagggcaggcccttcaatgca	12	11	1	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr8:10396148G>A	ENST00000328655.3	+	5	944	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	302						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GACCCAGCTAGAGGGCAGGCC	0.542																																																	0													106	113	111					8																	10396148		2203	4300	6503	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.904G>A	8.37:g.10396148G>A	ENSP00000333003:p.Glu302Lys		E5RJX5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E302K	ENST00000328655.3	37	c.904	CCDS5976.1	8	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043061	0.36085	.	.	ENSG00000184647	ENST00000328655	D	0.88586	-2.4	4.2	2.19	0.27852	.	0.230734	0.22134	N	0.064145	T	0.80618	0.4657	L	0.32530	0.975	0.37822	D	0.92841	D	0.53151	0.958	B	0.42386	0.386	T	0.78971	-0.1993	10	0.45353	T	0.12	.	6.185	0.20491	0.0:0.2377:0.561:0.2014	.	302	Q6UWB4	PRS55_HUMAN	K	302	ENSP00000333003:E302K	ENSP00000333003:E302K	E	+	1	0	PRSS55	10433558	0.965000	0.33210	0.350000	0.25708	0.025000	0.11179	1.659000	0.37387	1.072000	0.40860	0.655000	0.94253	GAG	PRSS55	-	NULL		0.542	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	G	NM_198464		10396148	1	no_errors	ENST00000328655	ensembl	human	known	70_37	missense	SNP	0.341	A	A	10396148	G	A	10396148	3	1	47	1	0	0	0	0	1	0	0	0	12661	943	33	1	922	1	PRSS55	8	10396148	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		10396148	135967874	53	6372										
ABCA1	19	genome.wustl.edu	37	chr9	107593363	107593363	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gtcctcaaaggggtcagctcGaggaccagggtcccagtacc	13	13	2	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr9:107593363G>A	ENST00000374736.3	-	14	2129	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	579					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGGTCAGCTCGAGGACCAGGG	0.488																																																	0													66	61	63					9																	107593363		2203	4300	6503	SO:0001587	stop_gained	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1735C>T	9.37:g.107593363G>A	ENSP00000363868:p.Arg579*		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R579*	ENST00000374736.3	37	c.1735	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	45	11.382708	0.99554	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.93	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9401	0.79747	0.0:0.0:0.8644:0.1356	.	.	.	.	X	579	.	ENSP00000363868:R579X	R	-	1	2	ABCA1	106633184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.116000	0.57871	2.815000	0.96918	0.561000	0.74099	CGA	ABCA1	-	NULL		0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107593363	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	107593363	G	A	107593363	4	1	47	1	0	0	0	0	0	1	0	0	28	1066	37	1	5198	1	ABCA1	9	107593363	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		107593363	33620068	54	6373										
ANAPC2	29882	genome.wustl.edu	37	chr9	140082274	140082274	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aagcccaggcgagtccatttCtccagcagctctaggctacg	10	14	2	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr9:140082274C>T	ENST00000323927.2	-	2	403	c.399G>A	c.(397-399)gaG>gaA	p.E133E	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GAGTCCATTTCTCCAGCAGCT	0.587																																																	0													80	85	83					9																	140082274		2203	4300	6503	SO:0001819	synonymous_variant	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.399G>A	9.37:g.140082274C>T			Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.E133	ENST00000323927.2	37	c.399	CCDS7033.1	9																																																																																			ANAPC2	-	NULL		0.587	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140082274	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140082274	C	T	140082274	2	4	47	1	0	0	0	0	0	0	0	1	603	912	32	1		1	ANAPC2	9	140082274	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	32488911	140082274	1131157	55	6374										
DNAJC1	64215	genome.wustl.edu	37	chr10	22048362	22048362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cagcagcctggctggcttccGcctccgaggccgggcatcag	14	16	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr10:22048362G>A	ENST00000376980.3	-	11	1623	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	445					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCTGGCTTCCGCCTCCGAGGC	0.652																																																	0													48	49	49					10																	22048362		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1333C>T	10.37:g.22048362G>A	ENSP00000366179:p.Arg445Trp		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.R445W	ENST00000376980.3	37	c.1333	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251378	0.59212	.	.	ENSG00000136770	ENST00000376980	T	0.67698	-0.28	5.58	1.3	0.21679	.	0.339861	0.24339	N	0.039391	T	0.77605	0.4155	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.77691	-0.2493	10	0.66056	D	0.02	-8.2757	15.1494	0.72684	0.0:0.0:0.3857:0.6143	.	166;445	Q96NY3;Q96KC8	.;DNJC1_HUMAN	W	445	ENSP00000366179:R445W	ENSP00000366179:R445W	R	-	1	2	DNAJC1	22088368	0.998000	0.40836	0.769000	0.31535	0.332000	0.28634	1.497000	0.35649	-0.021000	0.14009	0.491000	0.48974	CGG	DNAJC1	-	NULL		0.652	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	G	NM_022365		22048362	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.997	A	A	22048362	G	A	22048362	3	1	47	1	0	0	0	0	1	0	0	0	4638	1086	38	2	339	2	DNAJC1	10	22048362	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		22048362	113486385	56	6375										
ART1	417	genome.wustl.edu	37	chr11	3681284	3681284	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cccggtgccaccaggtgttcCgaggtgtgcacggcctgcgc	15	15	0	0	rs145405723		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:3681284C>T	ENST00000250693.1	+	3	636	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	179					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCAGGTGTTCCGAGGTGTGCA	0.672																																																	0								C	stop/ARG	0,4402		0,0,2201	29	29	29		535	4.6	1	11	dbSNP_134	29	2,8590	2.2+/-6.3	0,2,4294	no	stop-gained	ART1	NM_004314.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		179/328	3681284	2,12992	2201	4296	6497	SO:0001587	stop_gained	417			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.535C>T	11.37:g.3681284C>T	ENSP00000250693:p.Arg179*		Q6NTD2|Q96KT9	Nonsense_Mutation	SNP	pfam_ART,prints_ART	p.R179*	ENST00000250693.1	37	c.535	CCDS7744.1	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101739	0.76983	0.0	2.33E-4	ENSG00000129744	ENST00000250693	.	.	.	5.53	4.6	0.57074	.	0.160799	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1342	0.48365	0.3475:0.6525:0.0:0.0	.	.	.	.	X	179	.	.	R	+	1	2	ART1	3637860	1.000000	0.71417	0.989000	0.46669	0.656000	0.38851	0.612000	0.24283	1.275000	0.44379	0.467000	0.42956	CGA	ART1	-	pfam_ART		0.672	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	HGNC	protein_coding	OTTHUMT00000032765.1	C	NM_004314		3681284	1	no_errors	ENST00000250693	ensembl	human	known	70_37	nonsense	SNP	0.995	T	T	3681284	C	T	3681284	4	4	47	1	0	0	0	0	0	1	0	0	998	644	23	2	541	2	ART1	11	3681284	Nonsense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		3681284	131325232	57	6376										
ZNF143	7702	genome.wustl.edu	37	chr11	9495505	9495505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tagatgcaaaactcatagatGgccaggtcattcagttggaa	10	7	3	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:9495505G>T	ENST00000396602.2	+	4	342	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	ZNF143_ENST00000299606.2_Missense_Mutation_p.G75C|ZNF143_ENST00000396597.3_Missense_Mutation_p.G44C|ZNF143_ENST00000396604.1_Missense_Mutation_p.G75C|ZNF143_ENST00000530463.1_Missense_Mutation_p.G75C	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	75					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACTCATAGATGGCCAGGTCAT	0.323																																																	0													151	152	152					11																	9495505		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.223G>T	11.37:g.9495505G>T	ENSP00000379847:p.Gly75Cys		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G75C	ENST00000396602.2	37	c.223	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809833	0.90707	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370	T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.35;2.09;2.44;2.09;0.58;0.2;2.58;0.14;0.2;2.48;0.16;0.34	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.77273	-0.2649	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	44;75;75	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	C	75;75;75;75;44;75;44;75;75;75;75;75;75	ENSP00000434638:G75C;ENSP00000379849:G75C;ENSP00000379847:G75C;ENSP00000432154:G75C;ENSP00000434922:G44C;ENSP00000433221:G75C;ENSP00000379843:G44C;ENSP00000409432:G75C;ENSP00000435881:G75C;ENSP00000299606:G75C;ENSP00000433743:G75C;ENSP00000388628:G75C	ENSP00000299606:G75C	G	+	1	0	ZNF143	9452081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.052000	0.93855	2.941000	0.99782	0.655000	0.94253	GGC	ZNF143	-	NULL		0.323	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	G	NM_003442		9495505	1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9495505	G	T	9495505	3	4	47	1	0	0	0	0	1	0	0	0	17762	1348	47	4	233	4	ZNF143	11	9495505	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	5814221	9495505	125511011	58	6377										
OR8K5	219453	genome.wustl.edu	37	chr11	55927137	55927137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	catatagctaacaaaatcaaCatgtaggacactaagactat	5	8	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:55927137C>T	ENST00000313447.1	-	1	656	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACAAAATCAACATGTAGGACA	0.383																																																	0													69	68	68					11																	55927137		2201	4296	6497	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.657G>A	11.37:g.55927137C>T	ENSP00000323853:p.Met219Ile		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M219I	ENST00000313447.1	37	c.657	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815164	0.02776	.	.	ENSG00000181752	ENST00000313447	T	0.00036	8.86	4.11	-8.06	0.01102	GPCR, rhodopsin-like superfamily (1);	0.945641	0.08856	N	0.883717	T	0.00039	0.0001	N	0.00793	-1.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14755	-1.0461	10	0.09843	T	0.71	.	2.2734	0.04096	0.2215:0.1547:0.4315:0.1922	.	219	Q8NH50	OR8K5_HUMAN	I	219	ENSP00000323853:M219I	ENSP00000323853:M219I	M	-	3	0	OR8K5	55683713	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-6.795000	0.00053	-1.107000	0.03004	0.567000	0.79289	ATG	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55927137	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55927137	C	T	55927137	3	4	47	1	0	0	0	0	1	0	0	0	11269	478	17	4	269	4	OR8K5	11	55927137	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	46431632	55927137	79079379	59	6378										
OR4D9	390199	genome.wustl.edu	37	chr11	59282804	59282804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gaccatcatgagtagggggcGatgcacaggcctcatcgtgg	15	10	2	1	rs539665433		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:59282804G>A	ENST00000329328.3	+	1	419	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AGTAGGGGGCGATGCACAGGC	0.542																																																	0													76	75	75					11																	59282804		2201	4295	6496	SO:0001583	missense	390199			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.419G>A	11.37:g.59282804G>A	ENSP00000328563:p.Arg140Gln		Q6IFF3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R140Q	ENST00000329328.3	37	c.419	CCDS31564.1	11	.	.	.	.	.	.	.	.	.	.	G	5.342	0.248425	0.10130	.	.	ENSG00000172742	ENST00000329328	T	0.40476	1.03	4.15	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.500950	0.14508	U	0.315309	T	0.36690	0.0976	M	0.70275	2.135	0.09310	N	1	B	0.25772	0.134	B	0.22152	0.038	T	0.39683	-0.9602	10	0.59425	D	0.04	-3.6226	2.6723	0.05070	0.106:0.1829:0.5227:0.1884	.	140	Q8NGE8	OR4D9_HUMAN	Q	140	ENSP00000328563:R140Q	ENSP00000328563:R140Q	R	+	2	0	OR4D9	59039380	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	-0.375000	0.07475	1.997000	0.58415	0.557000	0.71058	CGA	OR4D9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.542	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	HGNC	protein_coding	OTTHUMT00000394237.1	G	NM_001004711		59282804	1	no_errors	ENST00000329328	ensembl	human	known	70_37	missense	SNP	0.001	A	A	59282804	G	A	59282804	3	1	47	1	0	0	0	0	1	0	0	0	11083	1058	37	1	421	1	OR4D9	11	59282804	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	3355667	59282804	75723712	60	6379										
STX3	6809	genome.wustl.edu	37	chr11	59560895	59560895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	agcaagccctcagtgagattGagggacgacacaaggacatt	12	9	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:59560895G>A	ENST00000337979.4	+	8	1130	c.583G>A	c.(583-585)Gag>Aag	p.E195K	STX3_ENST00000529177.1_Missense_Mutation_p.E195K|STX3_ENST00000535361.1_Missense_Mutation_p.E195K|STX3_ENST00000437946.2_Missense_Mutation_p.E98K|STX3_ENST00000300150.7_Missense_Mutation_p.E164K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	195	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGTGAGATTGAGGGACGACA	0.517																																																	0													117	93	101					11																	59560895		2201	4295	6496	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.583G>A	11.37:g.59560895G>A	ENSP00000338562:p.Glu195Lys		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E195K	ENST00000337979.4	37	c.583	CCDS7975.1	11	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020442	0.93462	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	5.1	3.13	0.36017	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.094132	0.64402	D	0.000001	T	0.42720	0.1215	L	0.58510	1.815	0.58432	D	0.999997	P;D;D;D	0.76494	0.775;0.997;0.999;0.999	P;P;D;D	0.69479	0.528;0.871;0.964;0.92	T	0.19647	-1.0299	10	0.62326	D	0.03	-39.1755	10.4595	0.44570	0.0:0.1458:0.7028:0.1514	.	98;195;195;195	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	K	164;195;195;98;195;147	ENSP00000300150:E164K;ENSP00000338562:E195K;ENSP00000441649:E195K;ENSP00000393536:E98K;ENSP00000433248:E195K;ENSP00000431386:E147K	ENSP00000300150:E164K	E	+	1	0	STX3	59317471	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	9.273000	0.95719	0.472000	0.27344	0.650000	0.86243	GAG	STX3	-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.517	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	G	NM_004177		59560895	1	no_errors	ENST00000337979	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59560895	G	A	59560895	3	1	47	1	0	0	0	0	1	0	0	0	15376	1291	45	1	613	1	STX3	11	59560895	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	278091	59560895	75445621	61	6380										
INTS5	80789	genome.wustl.edu	37	chr11	62416084	62416084	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gaagcgcttccgttccaatcGtaacgtctctccacacagct	7	15	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:62416084G>A	ENST00000330574.2	-	2	1520	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	490					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CGTTCCAATCGTAACGTCTCT	0.602																																																	0													98	96	97					11																	62416084		2202	4299	6501	SO:0001587	stop_gained	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1468C>T	11.37:g.62416084G>A	ENSP00000327889:p.Arg490*		Q8N6W5|Q9C0G5	Nonsense_Mutation	SNP	NULL	p.R490*	ENST00000330574.2	37	c.1468	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611077	0.46631	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.11	3.1	0.35709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.145	0.54018	0.0:0.0:0.68:0.32	.	.	.	.	X	490	.	ENSP00000327889:R490X	R	-	1	2	INTS5	62172660	1.000000	0.71417	0.956000	0.39512	0.195000	0.23768	2.642000	0.46596	1.377000	0.46286	-0.152000	0.13540	CGA	INTS5	-	NULL		0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	G	NM_030628		62416084	-1	no_errors	ENST00000330574	ensembl	human	known	70_37	nonsense	SNP	0.986	A	A	62416084	G	A	62416084	4	1	47	1	0	0	0	0	0	1	0	0	7801	1153	40	2	1595	2	INTS5	11	62416084	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	2855189	62416084	72590432	62	6381										
ZFPL1	7542	genome.wustl.edu	37	chr11	64854869	64854869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tgacgatgacaagtaccgacGtcggccggccttgggttggc	15	11	0	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:64854869G>A	ENST00000294258.3	+	7	862	c.710G>A	c.(709-711)cGt>cAt	p.R237H	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	237					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AAGTACCGACGTCGGCCGGCC	0.622																																																	0													77	81	79					11																	64854869		2201	4297	6498	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.710G>A	11.37:g.64854869G>A	ENSP00000294258:p.Arg237His		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.R237H	ENST00000294258.3	37	c.710	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.263145	0.95399	.	.	ENSG00000162300	ENST00000294258	T	0.58940	0.3	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76836	-0.2812	10	0.87932	D	0	-32.7541	15.2787	0.73764	0.0:0.0:1.0:0.0	.	237	O95159	ZFPL1_HUMAN	H	237	ENSP00000294258:R237H	ENSP00000294258:R237H	R	+	2	0	ZFPL1	64611445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.025000	0.88777	2.537000	0.85549	0.650000	0.86243	CGT	ZFPL1	-	NULL		0.622	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	G	NM_006782		64854869	1	no_errors	ENST00000294258	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64854869	G	A	64854869	3	1	47	1	0	0	0	0	1	0	0	0	17686	1145	40	2	732	2	ZFPL1	11	64854869	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	2438785	64854869	70151647	63	6382										
NCAM1	4684	genome.wustl.edu	37	chr11	113076287	113076287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gccaaccccacaggagttccGggagggggaagatgccgtga	16	11	0	2	rs367901170		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:113076287G>A	ENST00000533760.1	+	4	634	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	NCAM1_ENST00000401611.2_Missense_Mutation_p.R129Q|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.R120Q	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	130					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGGAGTTCCGGGAGGGGGAA	0.502																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3967		0,1,1983	107	107	107		390,390,390,390,390	2.8	1	11		107	0,8284		0,0,4142	no	missense,missense,missense,missense,missense	NCAM1	NM_181351.4,NM_001242608.1,NM_001242607.1,NM_001076682.3,NM_000615.6	43,43,43,43,43	0,1,6125	AA,AG,GG		0.0,0.0252,0.0082	benign,benign,benign,benign,benign	130/859,130/727,130/885,130/762,130/849	113076287	1,12251	1984	4142	6126	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.35G>A	11.37:g.113076287G>A	ENSP00000473281:p.Arg12Gln		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.R120Q	ENST00000533760.1	37	c.359		11	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274800	0.59649	2.52E-4	0.0	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.66280	-0.2;-0.2	5.73	2.84	0.33178	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.308394	0.39475	N	0.001348	T	0.43077	0.1231	.	.	.	0.80722	D	1	B;B;B;B;B	0.31256	0.316;0.316;0.028;0.09;0.316	B;B;B;B;B	0.27500	0.08;0.05;0.052;0.065;0.05	T	0.26087	-1.0113	9	0.35671	T	0.21	-19.2354	3.0223	0.06079	0.3795:0.0:0.4321:0.1884	.	130;130;130;130;130	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	Q	12;129;120	ENSP00000384055:R129Q;ENSP00000318472:R120Q	ENSP00000318472:R120Q	R	+	2	0	NCAM1	112581497	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	1.375000	0.34295	0.756000	0.33013	0.655000	0.94253	CGG	NCAM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Neural_cell_adh		0.502	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	G	NM_000615		113076287	1	no_errors	ENST00000316851	ensembl	human	known	70_37	missense	SNP	0.993	A	A	113076287	G	A	113076287	3	1	47	1	0	0	0	0	1	0	0	0	10226	1116	39	2	404	2	NCAM1	11	113076287	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	48221418	113076287	21930229	64	6383										
GRIK4	2900	genome.wustl.edu	37	chr11	120852839	120852839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gggaatggagaatattggtgGaatctttgtggttcttattt	13	2	2	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:120852839G>T	ENST00000527524.2	+	20	2707	c.2420G>T	c.(2419-2421)gGa>gTa	p.G807V	GRIK4_ENST00000438375.2_Missense_Mutation_p.G807V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	807					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AATATTGGTGGAATCTTTGTG	0.348																																																	0													272	275	274					11																	120852839		2203	4299	6502	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2420G>T	11.37:g.120852839G>T	ENSP00000435648:p.Gly807Val		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G807V	ENST00000527524.2	37	c.2420	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669369	0.88348	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.62639	0.01;0.01	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.050029	0.85682	D	0.000000	D	0.84651	0.5519	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.88014	0.2764	10	0.87932	D	0	.	19.2057	0.93729	0.0:0.0:1.0:0.0	.	807	Q16099	GRIK4_HUMAN	V	807	ENSP00000435648:G807V;ENSP00000404063:G807V	ENSP00000404063:G807V	G	+	2	0	GRIK4	120358049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.621000	0.88768	0.655000	0.94253	GGA	GRIK4	-	pfam_Iontro_glu_rcpt,prints_NMDA_rcpt		0.348	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120852839	1	no_errors	ENST00000527524	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120852839	G	T	120852839	3	4	47	1	0	0	0	0	1	0	0	0	6796	1174	41	3	2490	3	GRIK4	11	120852839	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	7776552	120852839	14153677	65	6384										
PLEKHG6	55200	genome.wustl.edu	37	chr12	6422899	6422899	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cgagatccagagcccgagaaGaggcacgggggccatgtggg	18	10	0	4			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:6422899G>C	ENST00000396988.3	+	3	473	c.243G>C	c.(241-243)aaG>aaC	p.K81N	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.K81N|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.K81N|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.K49N	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	81						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCCCGAGAAGAGGCACGGGG	0.647																																																	0													42	50	47					12																	6422899		2203	4300	6503	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.243G>C	12.37:g.6422899G>C	ENSP00000380185:p.Lys81Asn		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K81N	ENST00000396988.3	37	c.243	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370772	0.24771	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.67171	-0.15;-0.05;-0.15;-0.25	4.52	1.46	0.22682	.	0.120487	0.37483	N	0.002077	T	0.59824	0.2222	M	0.70595	2.14	0.58432	D	0.999997	B;B;P	0.40050	0.037;0.037;0.7	B;B;B	0.39805	0.023;0.013;0.31	T	0.55003	-0.8208	10	0.40728	T	0.16	-6.0916	5.4121	0.16354	0.3736:0.0:0.6264:0.0	.	49;81;81	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	N	81;81;81;49	ENSP00000011684:K81N;ENSP00000442836:K81N;ENSP00000380185:K81N;ENSP00000393194:K49N	ENSP00000011684:K81N	K	+	3	2	PLEKHG6	6293160	0.100000	0.21855	0.869000	0.34112	0.231000	0.25187	0.125000	0.15749	0.545000	0.28902	0.462000	0.41574	AAG	PLEKHG6	-	NULL		0.647	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	G	NM_018173		6422899	1	no_errors	ENST00000011684	ensembl	human	known	70_37	missense	SNP	0.905	C	C	6422899	G	C	6422899	3	2	47	1	0	0	0	0	1	0	0	0	12098	933	33	1	295	1	PLEKHG6	12	6422899	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		6422899	127428996	66	6385										
GNB3	2784	genome.wustl.edu	37	chr12	6950484	6950484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gagcaactgcgtcaggaagcGgagcagctcaagaagcagat	14	9	2	2	rs566098814		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:6950484G>A	ENST00000229264.3	+	3	438	c.33G>A	c.(31-33)gcG>gcA	p.A11A	LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_Silent_p.A11A	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	11					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTCAGGAAGCGGAGCAGCTCA	0.637																																																	0													63	64	64					12																	6950484		2203	4300	6503	SO:0001819	synonymous_variant	2784				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.33G>A	12.37:g.6950484G>A			Q96B71|Q9BQC0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.A11	ENST00000229264.3	37	c.33	CCDS8564.1	12																																																																																			GNB3	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu		0.637	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB3	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6950484	1	no_errors	ENST00000229264	ensembl	human	known	70_37	silent	SNP	0.337	A	A	6950484	G	A	6950484	2	1	47	1	0	0	0	0	0	0	0	1	6538	1103	39	2		2	GNB3	12	6950484	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	527585	6950484	126901411	67	6386										
CCNT1	904	genome.wustl.edu	37	chr12	49093609	49093609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	atgagtatgtgggtgatcaaTtgttagttcaaagccttaaa	10	4	2	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:49093609T>C	ENST00000261900.3	-	5	670	c.448A>G	c.(448-450)Att>Gtt	p.I150V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	150					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGGTGATCAATTGTTAGTTCA	0.308																																																	0													233	232	232					12																	49093609		2203	4300	6503	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.448A>G	12.37:g.49093609T>C	ENSP00000261900:p.Ile150Val		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.I150V	ENST00000261900.3	37	c.448	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	t	11.66	1.706064	0.30232	.	.	ENSG00000129315	ENST00000261900	T	0.29917	1.55	4.99	4.99	0.66335	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.38733	1.17	0.80722	D	1	B	0.22276	0.067	B	0.23275	0.045	T	0.04427	-1.0952	10	0.25106	T	0.35	-14.2857	13.98	0.64299	0.0:0.0:0.0:1.0	.	150	O60563	CCNT1_HUMAN	V	150	ENSP00000261900:I150V	ENSP00000261900:I150V	I	-	1	0	CCNT1	47379876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.007000	0.58848	0.528000	0.53228	ATT	CCNT1	-	superfamily_Cyclin-like		0.308	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	T	NM_001240		49093609	-1	no_errors	ENST00000261900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49093609	T	C	49093609	3	2	47	1	0	0	0	0	1	0	0	0	2939	1493	52	5	1752	5	CCNT1	12	49093609	Missense_Mutation	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	42143125	49093609	84758286	68	6387										
ERBB3	2065	genome.wustl.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186	159	168					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A	A	56478854	G	A	56478854	3	1	47	1	0	0	0	0	1	0	0	0	5220	1145	40	2	320	2	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	7385245	56478854	77373041	69	6388										
MYBPC1	4604	genome.wustl.edu	37	chr12	102038471	102038471	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aaattcttgatcctgcatatCaggttgacaaaggaggcaga	10	7	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:102038471C>T	ENST00000550270.1	+	10	787	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.Q276*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.Q288*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.Q250*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.Q251*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.Q164*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.Q249*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.Q288*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.Q244*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.Q237*|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	263	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCCTGCATATCAGGTTGACAA	0.358																																																	0													81	77	79					12																	102038471		2203	4300	6503	SO:0001587	stop_gained	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.787C>T	12.37:g.102038471C>T	ENSP00000449702:p.Gln263*		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q288*	ENST00000550270.1	37	c.862	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.659458	0.97743	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.7	5.7	0.88788	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4511	0.94867	0.0:1.0:0.0:0.0	.	.	.	.	X	237;263;263;263;250;249;288;276;263;288;263;244;251;288;164;263	.	ENSP00000353822:Q263X	Q	+	1	0	MYBPC1	100562602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.763000	0.68818	2.694000	0.91930	0.655000	0.94253	CAG	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub		0.358	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	C			102038471	1	no_errors	ENST00000361466	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	102038471	C	T	102038471	4	4	47	1	0	0	0	0	0	1	0	0	10034	827	29	1	908	1	MYBPC1	12	102038471	Nonsense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	45559617	102038471	31813424	70	6389										
PITPNM2	57605	genome.wustl.edu	37	chr12	123471369	123471369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gatgaggtagcccaggtcctGccagtgcctgggggtgaggt	18	9	0	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:123471369G>T	ENST00000542749.1	-	22	3484	c.3421C>A	c.(3421-3423)Cag>Aag	p.Q1141K	PITPNM2_ENST00000320201.4_Missense_Mutation_p.Q1141K|PITPNM2_ENST00000280562.5_Missense_Mutation_p.Q1135K|PITPNM2_ENST00000392428.1_Missense_Mutation_p.Q862K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1141					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCAGGTCCTGCCAGTGCCTG	0.662																																																	0													42	39	40					12																	123471369		2203	4298	6501	SO:0001583	missense	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3421C>A	12.37:g.123471369G>T	ENSP00000437611:p.Gln1141Lys		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.Q1141K	ENST00000542749.1	37	c.3421	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494795	0.85069	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.02	5.02	0.67125	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.64402	D	0.000001	D	0.87966	0.6311	M	0.84433	2.695	0.80722	D	1	D;D	0.65815	0.984;0.995	P;D	0.78314	0.888;0.991	D	0.89862	0.4017	10	0.87932	D	0	-30.5919	18.709	0.91649	0.0:0.0:1.0:0.0	.	1135;1141	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	K	1135;1141;862;1141	ENSP00000280562:Q1135K;ENSP00000322218:Q1141K;ENSP00000376223:Q862K;ENSP00000437611:Q1141K	ENSP00000280562:Q1135K	Q	-	1	0	PITPNM2	122037322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.845000	0.99498	2.490000	0.84030	0.561000	0.74099	CAG	PITPNM2	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.662	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	G	NM_020845		123471369	-1	no_errors	ENST00000320201	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123471369	G	T	123471369	3	4	47	1	0	0	0	0	1	0	0	0	11975	1328	46	4	640	4	PITPNM2	12	123471369	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	21432898	123471369	10380526	71	6390										
KL	9365	genome.wustl.edu	37	chr13	33635286	33635286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tggataacgatgaatgagccGtatacaaggaatatgacata	10	5	0	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:33635286G>A	ENST00000380099.3	+	4	2078	c.2070G>A	c.(2068-2070)ccG>ccA	p.P690P	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	690	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGAATGAGCCGTATACAAGGA	0.507																																																	0													67	61	63					13																	33635286		2203	4300	6503	SO:0001819	synonymous_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2070G>A	13.37:g.33635286G>A			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P690	ENST00000380099.3	37	c.2070	CCDS9347.1	13																																																																																			KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.507	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	G			33635286	1	no_errors	ENST00000380099	ensembl	human	known	70_37	silent	SNP	0.005	A	A	33635286	G	A	33635286	2	1	47	1	0	0	0	0	0	0	0	1	8351	1132	40	2		2	KL	13	33635286	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		33635286	81534592	72	6391										
RB1	5925	genome.wustl.edu	37	chr13	49047512	49047512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	acagaatcttagtatcaattGgtgaatcattcggggtgagt	11	5	3	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:49047512G>T	ENST00000267163.4	+	24	2644	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	836	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R830fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGTATCAATTGGTGAATCATT	0.259		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	27	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)											105	112	109					13																	49047512		2201	4293	6494	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2506G>T	13.37:g.49047512G>T	ENSP00000267163:p.Gly836Cys		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.G836C	ENST00000267163.4	37	c.2506	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437830	0.83885	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88124	-2.34	5.72	5.72	0.89469	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92179	0.7520	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92533	0.6035	10	0.87932	D	0	.	18.069	0.89399	0.0:0.0:1.0:0.0	.	836	P06400	RB_HUMAN	C	815;836	ENSP00000267163:G836C	ENSP00000267163:G836C	G	+	1	0	RB1	47945513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.650000	0.91073	2.700000	0.92200	0.563000	0.77884	GGT	RB1	-	pfam_Rb_C		0.259	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			49047512	1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49047512	G	T	49047512	3	4	47	1	0	0	0	0	1	0	0	0	13128	1348	47	4	2600	4	RB1	13	49047512	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	15412226	49047512	66122366	73	6392										
CASC5	57082	genome.wustl.edu	37	chr15	40914824	40914824	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aacttggtaaaactaatttaGaacacactactggccagcta	6	9	0	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:40914824G>A	ENST00000346991.5	+	11	2830	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.E788K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	814					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACTAATTTAGAACACACTAC	0.373																																																	0													74	65	68					15																	40914824		1864	4097	5961	SO:0001583	missense	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2440G>A	15.37:g.40914824G>A	ENSP00000335463:p.Glu814Lys		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.E814K	ENST00000346991.5	37	c.2440	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428701	0.43122	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07444	3.19;3.19	4.71	2.84	0.33178	.	0.441463	0.19152	N	0.121440	T	0.11580	0.0282	M	0.71036	2.16	0.21184	N	0.999766	B;B;B	0.26602	0.037;0.015;0.154	B;B;B	0.26202	0.067;0.046;0.046	T	0.12734	-1.0536	10	0.51188	T	0.08	.	9.9184	0.41448	0.2262:0.0:0.7738:0.0	.	788;814;788	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	K	814;788;788	ENSP00000335463:E814K;ENSP00000382576:E788K	ENSP00000260369:E788K	E	+	1	0	CASC5	38702116	.	.	0.917000	0.36280	0.083000	0.17756	.	.	0.619000	0.30197	0.557000	0.71058	GAA	CASC5	-	NULL		0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	G	NM_144508		40914824	1	no_errors	ENST00000346991	ensembl	human	known	70_37	missense	SNP	0.894	A	A	40914824	G	A	40914824	3	1	47	1	0	0	0	0	1	0	0	0	2668	943	33	1	2478	1	CASC5	15	40914824	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		40914824	61616568	74	6393										
TP53BP1	7158	genome.wustl.edu	37	chr15	43748156	43748156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ccccagcttctgggcctctgCatctgagcttagctgctttg	10	14	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:43748156C>T	ENST00000263801.3	-	12	2887	c.2635G>A	c.(2635-2637)Gca>Aca	p.A879T	TP53BP1_ENST00000382039.3_Missense_Mutation_p.A884T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A884T|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A884T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	879					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGGCCTCTGCATCTGAGCTT	0.468								Other conserved DNA damage response genes																																									0													103	103	103					15																	43748156		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2635G>A	15.37:g.43748156C>T	ENSP00000263801:p.Ala879Thr		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A884T	ENST00000263801.3	37	c.2650	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626670	0.14257	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546;ENST00000414758	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;2.94	5.23	2.31	0.28768	.	1.437170	0.04272	N	0.342312	T	0.25865	0.0630	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.25007	0.116;0.002;0.004;0.004	B;B;B;B	0.18871	0.023;0.002;0.006;0.006	T	0.19031	-1.0318	10	0.13853	T	0.58	1.2983	7.9192	0.29835	0.0:0.7377:0.0:0.2623	.	884;879;884;884	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	879;884;884;884;884;23	ENSP00000263801:A879T;ENSP00000371475:A884T;ENSP00000371470:A884T;ENSP00000393497:A884T;ENSP00000388028:A884T	ENSP00000263801:A879T	A	-	1	0	TP53BP1	41535448	0.000000	0.05858	0.000000	0.03702	0.735000	0.41995	0.080000	0.14802	0.287000	0.22375	0.650000	0.86243	GCA	TP53BP1	-	NULL		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43748156	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43748156	C	T	43748156	3	4	47	1	0	0	0	0	1	0	0	0	16414	710	25	4	3351	4	TP53BP1	15	43748156	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	2833332	43748156	58783236	75	6394										
C15orf44	81556	genome.wustl.edu	37	chr15	65871854	65871854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ctggccagcttgagctgctgGgcagcatgggtcagctggaa	16	10	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:65871854G>A	ENST00000395644.4	-	12	1784	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	VWA9_ENST00000442903.3_Silent_p.A447A|VWA9_ENST00000569491.1_Silent_p.A433A|VWA9_ENST00000313182.2_Silent_p.A483A|VWA9_ENST00000420799.2_Silent_p.A426A|VWA9_ENST00000567744.1_Silent_p.A519A|VWA9_ENST00000431261.2_Silent_p.A404A			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	483																	TGAGCTGCTGGGCAGCATGGG	0.572																																																	0													90	81	84					15																	65871854		2201	4299	6500	SO:0001819	synonymous_variant	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1449C>T	15.37:g.65871854G>A			B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	NULL	p.A519	ENST00000395644.4	37	c.1557		15																																																																																			VWA9	-	NULL		0.572	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	G	NM_030800		65871854	-1	no_errors	ENST00000567744	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65871854	G	A	65871854	2	1	47	1	0	0	0	0	0	0	0	1	1802	1219	43	4		4	C15orf44	15	65871854	Silent	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	22123698	65871854	36659538	76	6395										
C15orf40	123207	genome.wustl.edu	37	chr15	83680351	83680351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tgcctcagcccgctgcggagCcgcagcatccccgcctggga	13	18	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:83680351C>T	ENST00000513601.2	-	1	16	c.9G>A	c.(7-9)cgG>cgA	p.R3R	C15orf40_ENST00000565712.1_Silent_p.R3R|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Silent_p.R3R|C15orf40_ENST00000304177.5_5'UTR|C15orf40_ENST00000538348.2_Silent_p.R3R			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	3								p.R3R(1)		large_intestine(3)|lung(2)|skin(1)	6						CGCTGCGGAGCCGCAGCATCC	0.706											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	ovary(1)											14	18	17					15																	83680351		691	1590	2281	SO:0001819	synonymous_variant	123207			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.9G>A	15.37:g.83680351C>T		1223	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Silent	SNP	pfam_DUF167,superfamily_DUF167	p.R3	ENST00000513601.2	37	c.9	CCDS32312.2	15																																																																																			C15orf40	-	NULL		0.706	C15orf40-001	KNOWN	basic|CCDS	protein_coding	C15orf40	HGNC	protein_coding	OTTHUMT00000360737.2	C	NM_144597		83680351	-1	no_errors	ENST00000451195	ensembl	human	known	70_37	silent	SNP	0.000	T	T	83680351	C	T	83680351	2	4	47	1	0	0	0	0	0	0	0	1	1798	726	26	4		4	C15orf40	15	83680351	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	17808497	83680351	18851041	77	6396										
SYNM	23336	genome.wustl.edu	37	chr15	99670051	99670051	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	caaatgagaggaccgtcattCtgggaaagaaaacagaagtg	12	6	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:99670051C>G	ENST00000560674.1	+	4	1097	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	SYNM_ENST00000328642.7_Missense_Mutation_p.L495V|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.L495V|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	496	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GACCGTCATTCTGGGAAAGAA	0.493																																					Pancreas(125;1071 1762 21750 40003 40381)												0													37	38	37					15																	99670051		1939	4144	6083	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.628C>G	15.37:g.99670051C>G	ENSP00000453040:p.Leu210Val		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.L495V	ENST00000560674.1	37	c.1483		15	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285391	0.01387	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.20463	2.07;2.07	5.5	-6.36	0.01969	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.003	T	0.32025	-0.9922	8	0.36615	T	0.2	.	3.6757	0.08291	0.0855:0.2541:0.3595:0.3009	.	496;495	O15061;C9JIE4	SYNEM_HUMAN;.	V	495	ENSP00000336775:L495V;ENSP00000330469:L495V	ENSP00000330469:L495V	L	+	1	2	SYNM	97487574	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.070000	0.01380	-1.066000	0.03164	-2.192000	0.00311	CTG	SYNM	-	NULL		0.493	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	C	NM_145728		99670051	1	no_errors	ENST00000336292	ensembl	human	known	70_37	missense	SNP	0.000	G	G	99670051	C	G	99670051	3	3	47	1	0	0	0	0	1	0	0	0	15485	912	32	1	1499	1	SYNM	15	99670051	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	15989700	99670051	2861341	78	6397										
MSLN	10232	genome.wustl.edu	37	chr16	816385	816385	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	atccagcacctgggctacctCttcctcaagatgagccctga	8	15	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:816385C>T	ENST00000382862.3	+	12	1220	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	MSLN_ENST00000545450.2_Silent_p.L375L|MSLN_ENST00000563941.1_Silent_p.L375L|MSLN_ENST00000566549.1_Silent_p.L375L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	375					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGGGCTACCTCTTCCTCAAGA	0.572																																																	0													85	77	80					16																	816385		2189	4288	6477	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1125C>T	16.37:g.816385C>T			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	pfam_Mesothelin	p.L375	ENST00000382862.3	37	c.1125	CCDS32356.1	16																																																																																			MSLN	-	pfam_Mesothelin		0.572	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	C			816385	1	no_errors	ENST00000382862	ensembl	human	known	70_37	silent	SNP	0.984	T	T	816385	C	T	816385	2	4	47	1	0	0	0	0	0	0	0	1	9904	900	32	1		1	MSLN	16	816385	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		816385	89538368	79	6398										
OTOA	146183	genome.wustl.edu	37	chr16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gagaatgtctcaggaacctaCgacatactcccttttcctat	6	12	1	1	rs144912852		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:21689852C>T	ENST00000286149.4	+	1	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	OTOA_ENST00000388958.3_Missense_Mutation_p.T6M			Q7RTW8	OTOAN_HUMAN	otoancorin	6					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373																																																	0								C	MET/THR	1,4397	2.1+/-5.4	0,1,2198	109	94	99		17	-1	0	16	dbSNP_134	99	0,8600		0,0,4300	no	missense	OTOA	NM_144672.3	81	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	6/1140	21689852	1,12997	2199	4300	6499	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.17C>T	16.37:g.21689852C>T	ENSP00000286149:p.Thr6Met		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.T6M	ENST00000286149.4	37	c.17		16	.	.	.	.	.	.	.	.	.	.	C	7.347	0.622176	0.14193	2.27E-4	0.0	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.64085	-0.08;-0.08	5.77	-1.03	0.10102	.	0.513347	0.20429	N	0.092515	T	0.36386	0.0965	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.20739	-1.0266	10	0.56958	D	0.05	-0.399	9.9341	0.41541	0.0:0.1487:0.5597:0.2916	.	6	E9PF51	.	M	6	ENSP00000373610:T6M;ENSP00000286149:T6M	ENSP00000286149:T6M	T	+	2	0	OTOA	21597353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.319000	0.19522	-0.386000	0.07821	-1.595000	0.00837	ACG	OTOA	-	NULL		0.373	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	C			21689852	1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	0.000	T	T	21689852	C	T	21689852	3	4	47	1	0	0	0	0	1	0	0	0	11326	536	19	2	19	2	OTOA	16	21689852	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	20873467	21689852	68664901	80	6399										
DNAJA2	10294	genome.wustl.edu	37	chr16	46992983	46992983	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aaactttatgtaaagatcacCtttttcaaagggattacgat	6	6	2	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:46992983C>G	ENST00000317089.5	-	8	1194	c.979G>C	c.(979-981)Ggt>Cgt	p.G327R		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	327					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TAAAGATCACCTTTTTCAAAG	0.363																																																	0													88	85	86					16																	46992983		2203	4300	6503	SO:0001583	missense	10294			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.979G>C	16.37:g.46992983C>G	ENSP00000314030:p.Gly327Arg		B2R7L7|O14711	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.G327R	ENST00000317089.5	37	c.979	CCDS10726.1	16	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428524	0.62844	.	.	ENSG00000069345	ENST00000317089	D	0.91740	-2.9	5.73	4.75	0.60458	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.048769	0.85682	D	0.000000	D	0.97779	0.9271	H	0.98786	4.33	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	D	0.98979	1.0804	10	0.87932	D	0	-32.2227	16.9035	0.86119	0.0:0.8725:0.1275:0.0	.	327	O60884	DNJA2_HUMAN	R	327	ENSP00000314030:G327R	ENSP00000314030:G327R	G	-	1	0	DNAJA2	45550484	1.000000	0.71417	0.996000	0.52242	0.012000	0.07955	6.076000	0.71267	2.722000	0.93159	0.650000	0.86243	GGT	DNAJA2	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd		0.363	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA2	HGNC	protein_coding	OTTHUMT00000256769.2	C			46992983	-1	no_errors	ENST00000317089	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46992983	C	G	46992983	3	3	47	1	0	0	0	0	1	0	0	0	4622	681	24	4	267	4	DNAJA2	16	46992983	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	25303131	46992983	43361770	81	6400										
ABCC11	85320	genome.wustl.edu	37	chr16	48249195	48249195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ttcactggtcacacggatgcGctggtcgctgacctcagatg	12	12	3	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:48249195G>A	ENST00000394747.1	-	7	1361	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ABCC11_ENST00000394748.1_Missense_Mutation_p.R338C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R338C|ABCC11_ENST00000353782.5_Missense_Mutation_p.R338C|ABCC11_ENST00000537808.1_Missense_Mutation_p.R338C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	338	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACACGGATGCGCTGGTCGCTG	0.443																																																	0													132	123	126					16																	48249195		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1012C>T	16.37:g.48249195G>A	ENSP00000378230:p.Arg338Cys		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R338C	ENST00000394747.1	37	c.1012	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581836	0.86748	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.23	5.23	0.72850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.947;1.0	D	0.95856	0.8879	10	0.72032	D	0.01	-16.9396	15.7055	0.77577	0.0:0.0:1.0:0.0	.	338;338	Q96J66-2;Q96J66	.;ABCCB_HUMAN	C	338	ENSP00000311326:R338C;ENSP00000349017:R338C;ENSP00000378231:R338C;ENSP00000378230:R338C;ENSP00000438530:R338C	ENSP00000311326:R338C	R	-	1	0	ABCC11	46806696	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	4.779000	0.62375	2.444000	0.82710	0.650000	0.86243	CGC	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.443	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48249195	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48249195	G	A	48249195	3	1	47	1	0	0	0	0	1	0	0	0	51	1087	38	2	3228	2	ABCC11	16	48249195	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	1256212	48249195	42105558	82	6401										
KRT16	3868	genome.wustl.edu	37	chr17	39768637	39768637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	accagcaaaaccaccaccaaAgccagcacccaagccaccac	4	20	0	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:39768637A>C	ENST00000301653.4	-	1	368	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	102	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ccaccaccaaagccagcaccc	0.602																																																	0													191	175	181					17																	39768637		2203	4300	6503	SO:0001583	missense	3868			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.304T>G	17.37:g.39768637A>C	ENSP00000301653:p.Phe102Val		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F102V	ENST00000301653.4	37	c.304	CCDS11401.1	17	.	.	.	.	.	.	.	.	.	.	A	0.424	-0.906861	0.02434	.	.	ENSG00000186832	ENST00000301653	T	0.78816	-1.21	3.78	1.49	0.22878	.	0.454593	0.16390	N	0.216511	T	0.56775	0.2008	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.30909	-0.9962	10	0.17369	T	0.5	.	1.9065	0.03278	0.5137:0.137:0.0829:0.2663	.	102	P08779	K1C16_HUMAN	V	102	ENSP00000301653:F102V	ENSP00000301653:F102V	F	-	1	0	KRT16	37022163	0.000000	0.05858	0.048000	0.18961	0.038000	0.13279	-0.236000	0.09003	0.164000	0.19529	0.379000	0.24179	TTT	KRT16	-	NULL		0.602	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT16	HGNC	protein_coding	OTTHUMT00000257408.1	A	NM_005557		39768637	-1	no_errors	ENST00000301653	ensembl	human	known	70_37	missense	SNP	0.013	C	C	39768637	A	C	39768637	3	2	47	1	0	0	0	0	1	0	0	0	8473	72	3	5	1149	5	KRT16	17	39768637	Missense_Mutation	SNP	A	TCGA-C5-A7CO-01A-11D-A351-09		39768637	41426573	83	6402										
CDK5RAP3	80279	genome.wustl.edu	37	chr17	46053338	46053338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	agccctctgtggtggaacgaCcccacctcgaggagcttcct	11	15	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:46053338C>T	ENST00000338399.4	+	8	863	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.P278S	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	253					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGTGGAACGACCCCACCTCGA	0.602																																																	0													62	64	63					17																	46053338		2095	4211	6306	SO:0001583	missense	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.757C>T	17.37:g.46053338C>T	ENSP00000344683:p.Pro253Ser		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.P253S	ENST00000338399.4	37	c.757	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872784	0.72180	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.50813	0.73;0.73	5.19	4.2	0.49525	.	0.106601	0.64402	D	0.000003	T	0.72112	0.3420	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.973;1.0;0.983	T	0.75019	-0.3465	10	0.30078	T	0.28	-20.1912	14.176	0.65542	0.1512:0.8488:0.0:0.0	.	278;166;253;28	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	278;253	ENSP00000438886:P278S;ENSP00000344683:P253S	ENSP00000344683:P253S	P	+	1	0	CDK5RAP3	43408337	1.000000	0.71417	0.978000	0.43139	0.476000	0.33039	4.110000	0.57831	1.268000	0.44264	0.655000	0.94253	CCC	CDK5RAP3	-	pfam_DUF773		0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	C	NM_176096		46053338	1	no_errors	ENST00000338399	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46053338	C	T	46053338	3	4	47	1	0	0	0	0	1	0	0	0	3152	507	18	4	787	4	CDK5RAP3	17	46053338	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	6284701	46053338	35141872	84	6403										
HOXB4	3214	genome.wustl.edu	37	chr17	46654215	46654215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	catgcgccggttctggaaccAgatcttgatctggcgctcgg	13	12	3	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:46654215A>C	ENST00000332503.5	-	2	2416	c.625T>G	c.(625-627)Tgg>Ggg	p.W209G	HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000498678.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000485909.2_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	209					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TTCTGGAACCAGATCTTGATC	0.622																																																	0													93	99	97					17																	46654215		2203	4300	6503	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.625T>G	17.37:g.46654215A>C	ENSP00000328928:p.Trp209Gly		Q9NTA0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.W209G	ENST00000332503.5	37	c.625	CCDS11529.1	17	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120438	0.77323	.	.	ENSG00000182742	ENST00000332503	D	0.99822	-6.94	5.78	4.69	0.59074	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96592	0.9438	10	0.87932	D	0	.	12.0724	0.53624	0.8709:0.0:0.0:0.1291	.	209	P17483	HXB4_HUMAN	G	209	ENSP00000328928:W209G	ENSP00000328928:W209G	W	-	1	0	HOXB4	44009214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.314000	0.96306	0.991000	0.38814	0.454000	0.30748	TGG	HOXB4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.622	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB4	HGNC	protein_coding	OTTHUMT00000358259.2	A			46654215	-1	no_errors	ENST00000332503	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46654215	A	C	46654215	3	2	47	1	0	0	0	0	1	0	0	0	7323	188	7	5	134	5	HOXB4	17	46654215	Missense_Mutation	SNP	A	TCGA-C5-A7CO-01A-11D-A351-09	600877	46654215	34540995	85	6404										
SMCHD1	23347	genome.wustl.edu	37	chr18	2697930	2697930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	aacacagcagctgatagtttTgaattcaaagctcatgttga	8	7	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr18:2697930T>C	ENST00000320876.6	+	10	1571	c.1233T>C	c.(1231-1233)ttT>ttC	p.F411F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.F411F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	411					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTGATAGTTTTGAATTCAAAG	0.383																																																	0													175	162	166					18																	2697930		1912	4130	6042	SO:0001819	synonymous_variant	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1233T>C	18.37:g.2697930T>C			O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.F411	ENST00000320876.6	37	c.1233	CCDS45822.1	18																																																																																			SMCHD1	-	NULL		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	T			2697930	1	no_errors	ENST00000320876	ensembl	human	known	70_37	silent	SNP	1.000	C	C	2697930	T	C	2697930	2	2	47	1	0	0	0	0	0	0	0	1	14818	1809	63	5		5	SMCHD1	18	2697930	Silent	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09		2697930	75379318	86	6405										
EPB41L3	23136	genome.wustl.edu	37	chr18	5445243	5445243	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cacttgtcctctggagcgttTctacagaaaacagaatagca	8	10	2	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr18:5445243T>G	ENST00000341928.2	-	4	722	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	EPB41L3_ENST00000400111.3_Splice_Site_p.K128Q|EPB41L3_ENST00000342933.3_Splice_Site_p.K128Q|EPB41L3_ENST00000544123.1_Splice_Site_p.K128Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Splice_Site_p.K128Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	128	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGAGCGTTTCTACAGAAAA	0.378																																																	0													107	89	95					18																	5445243		2203	4300	6503	SO:0001630	splice_region_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.382-1A>C	18.37:g.5445243T>G			B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.K128Q	ENST00000341928.2	37	c.382	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743436	0.89663	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87525	0.6199	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.999;0.999;1.0	D;D;D;D;D	0.81914	0.976;0.991;0.991;0.985;0.995	D	0.88891	0.3346	10	0.87932	D	0	.	15.1603	0.72778	0.0:0.0:0.0:1.0	.	128;128;19;128;128	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	128;19;128;19;128;128;209	ENSP00000343158:K128Q;ENSP00000441174:K128Q;ENSP00000341138:K128Q;ENSP00000382981:K128Q	ENSP00000343158:K128Q	K	-	1	0	EPB41L3	5435243	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.654000	0.83653	2.222000	0.72286	0.383000	0.25322	AAA	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain		0.378	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	T	NM_012307	Missense_Mutation	5445243	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5445243	T	G	5445243	5	3	47	1	0	0	0	0	0	0	1	0	5166	1797	62	5	2957	5	EPB41L3	18	5445243	Splice_Site	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	2747313	5445243	72632005	87	6406										
POLRMT	5442	genome.wustl.edu	37	chr19	621725	621725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcaggaaagcaccagagtgcGgcgatgtccagggcagcggg	18	10	0	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:621725G>A	ENST00000588649.2	-	10	2057	c.1973C>T	c.(1972-1974)cCg>cTg	p.P658L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	658					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGAGTGCGGCGATGTCCA	0.687																																																	0													20	23	22					19																	621725		2197	4300	6497	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1973C>T	19.37:g.621725G>A	ENSP00000465759:p.Pro658Leu		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.P673L	ENST00000588649.2	37	c.2018	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	5.157	0.214500	0.09810	.	.	ENSG00000099821	ENST00000215591	T	0.44881	0.91	4.62	3.57	0.40892	.	0.192535	0.44902	N	0.000405	T	0.32585	0.0834	L	0.49350	1.555	0.34672	D	0.723811	B	0.22003	0.063	B	0.10450	0.005	T	0.35624	-0.9781	10	0.11485	T	0.65	-12.3766	11.0017	0.47609	0.0934:0.0:0.9066:0.0	.	658	O00411	RPOM_HUMAN	L	658	ENSP00000215591:P658L	ENSP00000215591:P658L	P	-	2	0	POLRMT	572725	1.000000	0.71417	0.008000	0.14137	0.013000	0.08279	3.916000	0.56416	1.136000	0.42199	0.455000	0.32223	CCG	POLRMT	-	NULL		0.687	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	G	NM_005035		621725	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	0.298	A	A	621725	G	A	621725	3	1	47	1	0	0	0	0	1	0	0	0	12262	1116	39	2	1767	2	POLRMT	19	621725	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09		621725	58507258	88	6407										
PALM	5064	genome.wustl.edu	37	chr19	726146	726146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tccctcccgcagggtcctggCggcagagaccacgtcccagc	12	18	0	1	rs372771354		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:726146C>T	ENST00000338448.5	+	2	60	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PALM_ENST00000264560.7_Missense_Mutation_p.A5V	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	5					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		AGGGTCCTGGCGGCAGAGACC	0.657													C|||	1	0.000199681	0	0	5008	,	,		16466	0		0	False		,,,				2504	0.001																0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	74	70	71		14,14	-4.3	0.1	19		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PALM	NM_002579.2,NM_001040134.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	5/388,5/344	726146	1,13005	2203	4300	6503	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.14C>T	19.37:g.726146C>T	ENSP00000341911:p.Ala5Val		O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	pfam_Paralemmin	p.A5V	ENST00000338448.5	37	c.14	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	C	0.721	-0.783377	0.02907	0.0	1.16E-4	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.28666	1.99;1.6	2.58	-4.26	0.03755	.	1.350310	0.05128	N	0.491996	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.023;0.001;0.001	B;B;B	0.10450	0.005;0.001;0.001	T	0.21655	-1.0239	10	0.39692	T	0.17	-17.2441	5.442	0.16515	0.0:0.3941:0.147:0.4589	.	5;5;5	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	V	5	ENSP00000341911:A5V;ENSP00000264560:A5V	ENSP00000264560:A5V	A	+	2	0	PALM	677146	0.000000	0.05858	0.050000	0.19076	0.536000	0.34869	-2.495000	0.00971	-1.415000	0.02022	-1.193000	0.01689	GCG	PALM	-	NULL		0.657	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	C	NM_002579		726146	1	no_errors	ENST00000338448	ensembl	human	known	70_37	missense	SNP	0.012	T	T	726146	C	T	726146	3	4	47	1	0	0	0	0	1	0	0	0	11432	768	27	2	20	2	PALM	19	726146	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	104421	726146	58402837	89	6408										
STAP2	55620	genome.wustl.edu	37	chr19	4327333	4327333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cggctgttccacatcgatcaCgtacttggggccctcccgct	10	16	1	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:4327333C>T	ENST00000594605.1	-	7	763	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	STAP2_ENST00000600324.1_Missense_Mutation_p.V214M|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	214	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATCGATCACGTACTTGGGG	0.637																																																	0													99	86	90					19																	4327333		2203	4300	6503	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.640G>A	19.37:g.4327333C>T	ENSP00000471052:p.Val214Met		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.V214M	ENST00000594605.1	37	c.640	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454372	0.63290	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.57	0.825	0.18824	SH2 motif (3);	0.624565	0.16341	N	0.218652	T	0.52853	0.1760	M	0.63843	1.955	0.26836	N	0.968483	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.39603	-0.9606	9	0.87932	D	0	-10.8123	5.6397	0.17557	0.0:0.5728:0.0:0.4272	.	214;214	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	M	214	.	ENSP00000317912:V214M	V	-	1	0	STAP2	4278333	0.964000	0.33143	0.572000	0.28498	0.682000	0.39822	0.217000	0.17603	0.310000	0.22990	0.555000	0.69702	GTG	STAP2	-	pfscan_SH2		0.637	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	C	NM_001013841		4327333	-1	no_errors	ENST00000314714	ensembl	human	known	70_37	missense	SNP	0.771	T	T	4327333	C	T	4327333	3	4	47	1	0	0	0	0	1	0	0	0	15283	536	19	2	737	2	STAP2	19	4327333	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	3601187	4327333	54801650	90	6409										
ZNF93	81931	genome.wustl.edu	37	chr19	20044223	20044223	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tgtgataaatatgggaaagtCtttcataaattttcaaattc	6	4	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:20044223C>G	ENST00000343769.5	+	4	487	c.459C>G	c.(457-459)gtC>gtG	p.V153V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	153				V -> D (in Ref. 5; AAA83548). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATGGGAAAGTCTTTCATAAAT	0.323																																																	0													42	45	44					19																	20044223		2203	4299	6502	SO:0001819	synonymous_variant	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.459C>G	19.37:g.20044223C>G			A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V153	ENST00000343769.5	37	c.459	CCDS32973.1	19																																																																																			ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.323	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	C	NM_031218		20044223	1	no_errors	ENST00000343769	ensembl	human	known	70_37	silent	SNP	0.990	G	G	20044223	C	G	20044223	2	3	47	1	0	0	0	0	0	0	0	1	18232	900	32	1		1	ZNF93	19	20044223	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	15716890	20044223	39084760	91	6410										
ZNF43	7594	genome.wustl.edu	37	chr19	21992363	21992363	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tcttatgtctgtttgaatttGaaaatttatgaaaggctttc	7	4	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:21992363G>A	ENST00000354959.4	-	4	645	c.476C>T	c.(475-477)tCa>tTa	p.S159L	ZNF43_ENST00000598381.1_Missense_Mutation_p.S153L|ZNF43_ENST00000594012.1_Missense_Mutation_p.S153L|ZNF43_ENST00000595461.1_Missense_Mutation_p.S153L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTGAATTTGAAAATTTATG	0.333																																																	0													38	38	38					19																	21992363		2202	4295	6497	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.476C>T	19.37:g.21992363G>A	ENSP00000347045:p.Ser159Leu		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S159L	ENST00000354959.4	37	c.476	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	G	3.406	-0.121240	0.06838	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.30981	1.51	1.26	-0.0138	0.13982	.	.	.	.	.	T	0.29288	0.0729	M	0.69823	2.125	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.28332	-1.0047	9	0.40728	T	0.16	.	6.3605	0.21425	0.1856:0.0:0.8144:0.0	.	159	P17038	ZNF43_HUMAN	L	158;159	ENSP00000347045:S159L	ENSP00000347045:S159L	S	-	2	0	ZNF43	21784203	0.000000	0.05858	0.015000	0.15790	0.053000	0.15095	-1.089000	0.03376	-0.176000	0.10707	-0.350000	0.07774	TCA	ZNF43	-	NULL		0.333	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	G	NM_003423		21992363	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	missense	SNP	0.000	A	A	21992363	G	A	21992363	3	1	47	1	0	0	0	0	1	0	0	0	17933	1294	45	1	1957	1	ZNF43	19	21992363	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	1948140	21992363	37136620	92	6411										
CEACAM8	1088	genome.wustl.edu	37	chr19	43093883	43093883	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gagatggagggcttgggagtCtccgctgtgcagaaaacaga	16	7	1	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:43093883C>G	ENST00000244336.5	-	3	530	c.429G>C	c.(427-429)gaG>gaC	p.E143D	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	143					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GCTTGGGAGTCTCCGCTGTGC	0.532																																																	0													143	138	140					19																	43093883		2203	4300	6503	SO:0001583	missense	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.429G>C	19.37:g.43093883C>G	ENSP00000244336:p.Glu143Asp		O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E143D	ENST00000244336.5	37	c.429	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	c	7.886	0.731178	0.15507	.	.	ENSG00000124469	ENST00000244336	T	0.19105	2.17	2.7	-0.961	0.10337	.	.	.	.	.	T	0.29061	0.0722	M	0.92317	3.295	0.09310	N	1	B	0.13594	0.008	B	0.21917	0.037	T	0.45131	-0.9282	9	0.54805	T	0.06	.	2.7424	0.05257	0.0:0.4214:0.2552:0.3234	.	143	P31997	CEAM8_HUMAN	D	143	ENSP00000244336:E143D	ENSP00000244336:E143D	E	-	3	2	CEACAM8	47785723	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.176000	0.03099	0.016000	0.14998	0.313000	0.20887	GAG	CEACAM8	-	NULL		0.532	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	C			43093883	-1	no_errors	ENST00000244336	ensembl	human	known	70_37	missense	SNP	0.000	G	G	43093883	C	G	43093883	3	3	47	1	0	0	0	0	1	0	0	0	3203	912	32	1	632	1	CEACAM8	19	43093883	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	21101520	43093883	16035100	93	6412										
SIGLEC6	946	genome.wustl.edu	37	chr19	52034738	52034738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	caccgtcagtgactctggccCctccagctggaatctccgct	9	17	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:52034738C>T	ENST00000425629.3	-	2	257	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G35R|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.G35R|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G35R|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G35R|SIGLEC6_ENST00000436458.1_Intron	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	35	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GACTCTGGCCCCTCCAGCTGG	0.632																																																	0													46	52	50					19																	52034738		2175	4287	6462	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.103G>A	19.37:g.52034738C>T	ENSP00000401502:p.Gly35Arg		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G35R	ENST00000425629.3	37	c.103	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179508	0.38511	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	2.82	-3.18	0.05186	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.670100	0.04822	U	0.437155	T	0.53753	0.1816	N	0.14661	0.345	0.09310	N	1	P;B;B;P;P;B	0.41498	0.635;0.04;0.032;0.6;0.752;0.069	B;B;B;B;P;B	0.48598	0.429;0.065;0.064;0.429;0.583;0.034	T	0.48422	-0.9037	10	0.48119	T	0.1	.	4.1439	0.10207	0.0:0.3108:0.4179:0.2712	.	35;35;35;35;35;35	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	R	24;35;35;35;35;35	ENSP00000375674:G35R;ENSP00000401502:G35R;ENSP00000353071:G35R;ENSP00000345907:G35R	ENSP00000345907:G35R	G	-	1	0	SIGLEC6	56726550	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.019000	0.03622	-0.690000	0.05142	0.306000	0.20318	GGG	SIGLEC6	-	pfam_Ig_V-set		0.632	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	C	NM_001245		52034738	-1	no_errors	ENST00000425629	ensembl	human	known	70_37	missense	SNP	0.000	T	T	52034738	C	T	52034738	3	4	47	1	0	0	0	0	1	0	0	0	14342	623	22	4	1319	4	SIGLEC6	19	52034738	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	8940855	52034738	7094245	94	6413										
ZFP28	140612	genome.wustl.edu	37	chr19	57066448	57066448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	atgcagtgtgtgtggcaaagCctttagtcatcgtcaatccc	10	10	2	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:57066448C>T	ENST00000301318.3	+	8	2365	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGTGGCAAAGCCTTTAGTCAT	0.393																																					Ovarian(124;554 1662 19430 21141 52494)												0													135	121	126					19																	57066448		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2294C>T	19.37:g.57066448C>T	ENSP00000301318:p.Ala765Val		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A765V	ENST00000301318.3	37	c.2294	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274751	0.59649	.	.	ENSG00000196867	ENST00000301318	T	0.13778	2.56	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000330	T	0.20659	0.0497	N	0.17723	0.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01874	-1.1256	10	0.62326	D	0.03	.	10.6594	0.45694	0.0:0.6742:0.3257:0.0	.	765	Q8NHY6	ZFP28_HUMAN	V	765	ENSP00000301318:A765V	ENSP00000301318:A765V	A	+	2	0	ZFP28	61758260	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.522000	0.22909	2.233000	0.73108	0.561000	0.74099	GCC	ZFP28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	C	NM_020828		57066448	1	no_errors	ENST00000301318	ensembl	human	known	70_37	missense	SNP	0.998	T	T	57066448	C	T	57066448	3	4	47	1	0	0	0	0	1	0	0	0	17672	739	26	4	2324	4	ZFP28	19	57066448	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	5031710	57066448	2062535	95	6414										
RALGAPB	57148	genome.wustl.edu	37	chr20	37153553	37153553	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	attgatgttgtggttccttaCtttatttcagctcttgaaac	7	7	2	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr20:37153553C>A	ENST00000262879.6	+	11	2036	c.1752C>A	c.(1750-1752)taC>taA	p.Y584*	RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.Y584*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.Y584*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.Y362*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	584					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGTTCCTTACTTTATTTCAG	0.418																																																	0													297	273	282					20																	37153553		2203	4300	6503	SO:0001587	stop_gained	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1752C>A	20.37:g.37153553C>A	ENSP00000262879:p.Tyr584*		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.Y584*	ENST00000262879.6	37	c.1752	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	44	11.155577	0.99524	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.3379	0.55077	0.0:0.8786:0.0:0.1214	.	.	.	.	X	584;584;584;362;584;412	.	ENSP00000262879:Y584X	Y	+	3	2	RALGAPB	36586967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.154000	0.50693	2.587000	0.87381	0.561000	0.74099	TAC	RALGAPB	-	superfamily_ARM-type_fold		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	C	NM_020336		37153553	1	no_errors	ENST00000262879	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	37153553	C	A	37153553	4	1	47	1	0	0	0	0	0	1	0	0	13045	576	20	4	1790	4	RALGAPB	20	37153553	Nonsense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		37153553	25871967	96	6415										
RALGAPB	57148	genome.wustl.edu	37	chr20	37154152	37154152	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cctcatcattttggcacagtCaaatctgaggtaatgttttg	8	8	4	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr20:37154152C>G	ENST00000262879.6	+	12	2177	c.1893C>G	c.(1891-1893)gtC>gtG	p.V631V	RALGAPB_ENST00000397042.3_Silent_p.V631V|RALGAPB_ENST00000397040.1_Silent_p.V631V|RALGAPB_ENST00000397038.1_Silent_p.V409V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	631					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGGCACAGTCAAATCTGAGG	0.318																																																	0													121	122	122					20																	37154152		2203	4300	6503	SO:0001819	synonymous_variant	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1893C>G	20.37:g.37154152C>G			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.V631	ENST00000262879.6	37	c.1893	CCDS13305.1	20																																																																																			RALGAPB	-	superfamily_ARM-type_fold		0.318	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	C	NM_020336		37154152	1	no_errors	ENST00000262879	ensembl	human	known	70_37	silent	SNP	1.000	G	G	37154152	C	G	37154152	2	3	47	1	0	0	0	0	0	0	0	1	13045	813	29	1		1	RALGAPB	20	37154152	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	599	37154152	25871368	97	6416										
NF2	4771	genome.wustl.edu	37	chr22	30000004	30000004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cgccatggccggggccatcgCttcccgcatgagcttcagct	12	16	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr22:30000004C>T	ENST00000338641.4	+	1	458	c.17C>T	c.(16-18)gCt>gTt	p.A6V	NF2_ENST00000403435.1_Missense_Mutation_p.A6V|NF2_ENST00000353887.4_Missense_Mutation_p.A6V|NF2_ENST00000334961.7_Missense_Mutation_p.A6V|NF2_ENST00000361452.4_Missense_Mutation_p.A6V|NF2_ENST00000397789.3_Missense_Mutation_p.A6V|NF2_ENST00000413209.2_Missense_Mutation_p.A6V|NF2_ENST00000361166.4_Missense_Mutation_p.A6V|NF2_ENST00000403999.3_Missense_Mutation_p.A6V|NF2_ENST00000347330.5_Missense_Mutation_p.A6V|NF2_ENST00000361676.4_Missense_Mutation_p.A6V	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	6					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(2)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGGGCCATCGCTTCCCGCATG	0.647			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	2	Unknown(2)	lung(1)|soft_tissue(1)											27	19	22					22																	30000004		2201	4299	6500	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.17C>T	22.37:g.30000004C>T	ENSP00000344666:p.Ala6Val		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.A6V	ENST00000338641.4	37	c.17	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.293802	0.95546	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D;D	0.94417	-2.06;-3.42;-1.85;-1.88;-1.9;-1.8;-1.72;-1.72;-1.8;-1.82;-1.8	5.16	5.16	0.70880	.	0.115718	0.64402	D	0.000020	D	0.95424	0.8514	L	0.36672	1.1	0.29980	N	0.81783	B;B;B;B;D;B	0.60575	0.082;0.204;0.104;0.204;0.988;0.167	B;B;B;B;D;B	0.70935	0.052;0.071;0.023;0.044;0.971;0.032	D	0.92337	0.5878	9	.	.	.	.	18.2478	0.89992	0.0:1.0:0.0:0.0	.	6;6;6;6;6;6	P35240-9;P35240-5;P35240;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.	V	6	ENSP00000409921:A6V;ENSP00000335160:A6V;ENSP00000344666:A6V;ENSP00000384029:A6V;ENSP00000354897:A6V;ENSP00000384797:A6V;ENSP00000335652:A6V;ENSP00000340626:A6V;ENSP00000380891:A6V;ENSP00000355183:A6V;ENSP00000354529:A6V	.	A	+	2	0	NF2	28330004	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.555000	0.67301	2.415000	0.81967	0.555000	0.69702	GCT	NF2	-	NULL		0.647	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	C	NM_000268		30000004	1	no_errors	ENST00000338641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30000004	C	T	30000004	3	4	47	1	0	0	0	0	1	0	0	0	10381	797	28	4	19	4	NF2	22	30000004	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		30000004	21304562	98	6417										
SEC14L2	23541	genome.wustl.edu	37	chr22	30805418	30805418	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	tgattttgtttccacagtttCtctgcatgtttgaggaaaat	8	6	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr22:30805418C>T	ENST00000312932.9	+	7	783	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.L9F|SEC14L2_ENST00000402592.3_Missense_Mutation_p.L92F|SEC14L2_ENST00000405717.3_Missense_Mutation_p.L175F|SEC14L2_ENST00000403484.1_Missense_Mutation_p.L101F	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TCCACAGTTTCTCTGCATGTT	0.458																																																	0													166	160	162					22																	30805418		2203	4300	6503	SO:0001583	missense	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.523C>T	22.37:g.30805418C>T	ENSP00000316203:p.Leu175Phe		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L175F	ENST00000312932.9	37	c.523	CCDS13876.1	22	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705215	0.68615	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.06	5.06	0.68205	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.130888	0.52532	D	0.000065	T	0.62551	0.2437	N	0.11000	0.08	0.80722	D	1	B;B;B;B	0.23185	0.081;0.016;0.006;0.023	B;B;B;B	0.25405	0.034;0.041;0.06;0.026	T	0.57917	-0.7728	9	.	.	.	-23.431	18.2021	0.89842	0.0:1.0:0.0:0.0	.	92;101;175;175	F5H3U4;B3KRD8;O76054;O76054-4	.;.;S14L2_HUMAN;.	F	175;121;101;175;92;9	ENSP00000316203:L175F;ENSP00000387781:L121F;ENSP00000383993:L101F;ENSP00000385186:L175F;ENSP00000383882:L92F;ENSP00000415178:L9F	.	L	+	1	0	RP4-539M6.19;SEC14L2	29135418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.566000	0.67372	2.638000	0.89438	0.655000	0.94253	CTC	SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.458	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	C	NM_012429		30805418	1	no_errors	ENST00000312932	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30805418	C	T	30805418	3	4	47	1	0	0	0	0	1	0	0	0	14012	913	32	1	549	1	SEC14L2	22	30805418	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	805414	30805418	20499148	99	6418										
IL3RA	3563	genome.wustl.edu	37	chrX	1464225	1464225	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ttagatccaaacccaccaatCacgaacctaaggatgaaagc	6	12	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:1464225C>G	ENST00000331035.4	+	3	430	c.81C>G	c.(79-81)atC>atG	p.I27M	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	27					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACCCACCAATCACGAACCTAA	0.428																																																	0													286	278	281					X																	1464225		2200	4296	6496	SO:0001583	missense	3563			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.81C>G	X.37:g.1464225C>G	ENSP00000327890:p.Ile27Met		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.I27M	ENST00000331035.4	37	c.81	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	8.349	0.830454	0.16749	.	.	ENSG00000185291	ENST00000331035	T	0.40476	1.03	1.32	-0.991	0.10235	.	.	.	.	.	T	0.41766	0.1173	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.25328	-1.0135	9	0.44086	T	0.13	-16.7883	3.7616	0.08606	0.0:0.4485:0.0:0.5515	.	27	P26951	IL3RA_HUMAN	M	27	ENSP00000327890:I27M	ENSP00000327890:I27M	I	+	3	3	IL3RA	1424225	0.012000	0.17670	0.020000	0.16555	0.025000	0.11179	0.169000	0.16641	-0.232000	0.09811	0.172000	0.16884	ATC	IL3RA	-	NULL		0.428	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	C			1464225	1	no_errors	ENST00000331035	ensembl	human	known	70_37	missense	SNP	0.003	G	G	1464225	C	G	1464225	3	3	47	1	0	0	0	0	1	0	0	0	7715	816	29	1	87	1	IL3RA	23	1464225	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09		1464225	153806335	100	6419										
CDKL5	6792	genome.wustl.edu	37	chrX	18593569	18593569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	agttgaaggaagcatttcgtCggaggggaaagttgtacttg	15	4	0	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:18593569C>T	ENST00000379989.3	+	6	526	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	CDKL5_ENST00000379996.3_Missense_Mutation_p.R81W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCATTTCGTCGGAGGGGAAA	0.383																																																	0													190	175	180					X																	18593569		2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.241C>T	X.37:g.18593569C>T	ENSP00000369325:p.Arg81Trp		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	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.R81W	ENST00000379989.3	37	c.241	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735291	0.69189	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.67523	-0.27;-0.27	5.68	2.51	0.30379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045657	0.85682	D	0.000000	T	0.74741	0.3756	L	0.46670	1.46	0.47308	D	0.999385	D	0.89917	1.0	D	0.81914	0.995	T	0.75519	-0.3289	10	0.72032	D	0.01	-14.0896	13.0457	0.58924	0.5627:0.4373:0.0:0.0	.	81	O76039	CDKL5_HUMAN	W	81	ENSP00000369332:R81W;ENSP00000369325:R81W	ENSP00000369325:R81W	R	+	1	2	CDKL5	18503490	0.997000	0.39634	0.997000	0.53966	0.895000	0.52256	1.265000	0.33027	0.489000	0.27749	-0.245000	0.11935	CGG	CDKL5	-	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		0.383	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	C	NM_003159		18593569	1	no_errors	ENST00000379989	ensembl	human	known	70_37	missense	SNP	0.994	T	T	18593569	C	T	18593569	3	4	47	1	0	0	0	0	1	0	0	0	3162	875	31	1	255	1	CDKL5	23	18593569	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	17129344	18593569	136676991	101	6420										
ELK1	2002	genome.wustl.edu	37	chrX	47498360	47498360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gggcttggactggtgctcctGctccccgaggggggcgctgc	18	13	0	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:47498360G>T	ENST00000247161.3	-	3	687	c.588C>A	c.(586-588)agC>agA	p.S196R	ELK1_ENST00000376983.3_Missense_Mutation_p.S196R|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.S142R	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	196					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGGTGCTCCTGCTCCCCGAGG	0.637																																																	0													10	9	10					X																	47498360		2197	4267	6464	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.588C>A	X.37:g.47498360G>T	ENSP00000247161:p.Ser196Arg		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S196R	ENST00000247161.3	37	c.588	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546291	0.65198	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.23147	1.92;1.92	4.39	3.52	0.40303	.	0.511109	0.21492	N	0.073680	T	0.14874	0.0359	N	0.19112	0.55	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.06215	-1.0839	10	0.17832	T	0.49	.	7.7245	0.28753	0.1246:0.0:0.8754:0.0	.	196	P19419	ELK1_HUMAN	R	196	ENSP00000247161:S196R;ENSP00000366182:S196R	ENSP00000247161:S196R	S	-	3	2	ELK1	47383304	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.439000	0.35013	0.943000	0.37553	0.529000	0.55759	AGC	ELK1	-	NULL		0.637	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	G	NM_005229		47498360	-1	no_errors	ENST00000247161	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47498360	G	T	47498360	3	4	47	1	0	0	0	0	1	0	0	0	5071	1310	46	4	714	4	ELK1	23	47498360	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	28904791	47498360	107772200	102	6421										
TBC1D25	4943	genome.wustl.edu	37	chrX	48403316	48403316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gctaggacaggaagtttaccTctcacttctatctgactggg	10	10	3	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:48403316T>C	ENST00000376771.4	+	3	634	c.293T>C	c.(292-294)cTc>cCc	p.L98P	TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000476141.1_Intron	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	98					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAAGTTTACCTCTCACTTCTA	0.572																																																	0													90	72	78					X																	48403316		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.293T>C	X.37:g.48403316T>C	ENSP00000365962:p.Leu98Pro		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L98P	ENST00000376771.4	37	c.293	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652050	0.67472	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.55930	0.49;0.49	5.64	4.47	0.54385	.	0.157302	0.42420	D	0.000716	T	0.66528	0.2798	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.69142	0.935;0.935;0.962	T	0.66972	-0.5788	10	0.87932	D	0	-10.0053	7.3661	0.26774	0.0:0.0999:0.0:0.9001	.	102;40;98	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	P	98;114	ENSP00000365962:L98P;ENSP00000402268:L114P	ENSP00000365962:L98P	L	+	2	0	TBC1D25	48288260	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	4.155000	0.58131	0.766000	0.33244	0.425000	0.28330	CTC	TBC1D25	-	NULL		0.572	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	T	NM_002536		48403316	1	no_errors	ENST00000376771	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48403316	T	C	48403316	3	2	47	1	0	0	0	0	1	0	0	0	15645	1551	54	5	303	5	TBC1D25	23	48403316	Missense_Mutation	SNP	T	TCGA-C5-A7CO-01A-11D-A351-09	904956	48403316	106867244	103	6422										
HUWE1	10075	genome.wustl.edu	37	chrX	53564520	53564520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cgttcctgggcccttacaatCgattcttcatttcttcgggg	9	12	3	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:53564520C>T	ENST00000342160.3	-	77	12591	c.12134G>A	c.(12133-12135)cGa>cAa	p.R4045Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4045Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4045	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCCTTACAATCGATTCTTCAT	0.537																																																	0													93	63	73					X																	53564520		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12134G>A	X.37:g.53564520C>T	ENSP00000340648:p.Arg4045Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4045Q	ENST00000342160.3	37	c.12134	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993438	0.74703	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.76448	-1.02;-1.02	5.78	5.78	0.91487	HECT (3);	0.150503	0.44097	D	0.000487	D	0.85758	0.5771	M	0.62016	1.91	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	P;P;D	0.65684	0.769;0.867;0.937	D	0.86718	0.1940	10	0.72032	D	0.01	.	15.9981	0.80268	0.0:1.0:0.0:0.0	.	867;4045;4029	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	Q	4045	ENSP00000340648:R4045Q;ENSP00000262854:R4045Q	ENSP00000262854:R4045Q	R	-	2	0	HUWE1	53581245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.064000	0.76721	2.580000	0.87095	0.600000	0.82982	CGA	HUWE1	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53564520	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53564520	C	T	53564520	3	4	47	1	0	0	0	0	1	0	0	0	7481	884	31	1	1018	1	HUWE1	23	53564520	Missense_Mutation	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	5161204	53564520	101706040	104	6423										
AR	367	genome.wustl.edu	37	chrX	66765450	66765450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cagctgccagcacctccggaCgaggatgactcagctgcccc	11	17	1	1	rs140987594		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:66765450C>T	ENST00000374690.3	+	1	986	c.462C>T	c.(460-462)gaC>gaT	p.D154D	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.D154D|AR_ENST00000396044.3_Silent_p.D154D	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	152	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CACCTCCGGACGAGGATGACT	0.677									Androgen Insensitivity Syndrome																																								0										1,3805		0,1,1625,554	14	10	11		462	-2.6	0.5	X	dbSNP_134	11	0,6691		0,0,2423,1845	no	coding-synonymous	AR	NM_000044.3		0,1,4048,2399	TT,TC,CC,C		0.0,0.0263,0.0095		154/921	66765450	1,10496	2180	4268	6448	SO:0001819	synonymous_variant	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.462C>T	X.37:g.66765450C>T			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.D154	ENST00000374690.3	37	c.462	CCDS14387.1	X																																																																																			AR	-	pfam_Andrgn_rcpt		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66765450	1	no_errors	ENST00000374690	ensembl	human	known	70_37	silent	SNP	0.705	T	T	66765450	C	T	66765450	2	4	47	1	0	0	0	0	0	0	0	1	836	535	19	2		2	AR	23	66765450	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	13200930	66765450	88505110	105	6424										
DGAT2L6	347516	genome.wustl.edu	37	chrX	69424301	69424301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	actaaatttctgtaccttccAtggccggggcttcactcgcg	9	13	2	0			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:69424301A>G	ENST00000333026.3	+	6	894	c.794A>G	c.(793-795)cAt>cGt	p.H265R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	265					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGTACCTTCCATGGCCGGGGC	0.502																																																	0													75	69	71					X																	69424301		2203	4300	6503	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.794A>G	X.37:g.69424301A>G	ENSP00000328036:p.His265Arg		Q6IEE2	Missense_Mutation	SNP	pfam_DAGAT	p.H265R	ENST00000333026.3	37	c.794	CCDS14397.1	X	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240551	0.39598	.	.	ENSG00000184210	ENST00000333026	D	0.93076	-3.16	4.98	3.81	0.43845	.	0.262240	0.33110	N	0.005265	D	0.93759	0.8005	M	0.65677	2.01	0.32889	D	0.511565	P	0.47677	0.899	P	0.55260	0.772	D	0.92889	0.6329	10	0.33940	T	0.23	-5.6303	8.0438	0.30536	0.9022:0.0:0.0978:0.0	.	265	Q6ZPD8	DG2L6_HUMAN	R	265	ENSP00000328036:H265R	ENSP00000328036:H265R	H	+	2	0	DGAT2L6	69341026	1.000000	0.71417	0.991000	0.47740	0.005000	0.04900	5.240000	0.65378	0.728000	0.32382	-0.360000	0.07572	CAT	DGAT2L6	-	pfam_DAGAT		0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	A	NM_198512		69424301	1	no_errors	ENST00000333026	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69424301	A	G	69424301	3	3	47	1	0	0	0	0	1	0	0	0	4469	217	8	5	816	5	DGAT2L6	23	69424301	Missense_Mutation	SNP	A	TCGA-C5-A7CO-01A-11D-A351-09	2658851	69424301	85846259	106	6425										
DLG3	1741	genome.wustl.edu	37	chrX	69670155	69670155	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	attggggaccggctgctggcGgtgagacagacttcatgggg	18	8	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:69670155G>A	ENST00000374360.3	+	5	1073	c.840G>A	c.(838-840)gcG>gcA	p.A280A	DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000431103.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Splice_Site_p.A298A|RNU4-81P_ENST00000363561.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	280	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGCTGCTGGCGGTGAGACAGA	0.562																																																	0													23	20	21					X																	69670155		2196	4264	6460	SO:0001630	splice_region_variant	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.840+1G>A	X.37:g.69670155G>A			B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A298	ENST00000374360.3	37	c.894	CCDS14403.1	X																																																																																			DLG3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.562	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	G	NM_021120	Silent	69670155	1	no_errors	ENST00000194900	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69670155	G	A	69670155	5	1	47	1	0	0	0	0	0	0	1	0	4566	1130	39	2	858	2	DLG3	23	69670155	Splice_Site	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	245854	69670155	85600405	107	6426										
ABCB7	22	genome.wustl.edu	37	chrX	74295234	74295234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	gcatcacttcaaacatgatgGgaagaagattaaataccaaa	7	7	2	3			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:74295234G>A	ENST00000373394.3	-	6	825	c.818C>T	c.(817-819)cCc>cTc	p.P273L	ABCB7_ENST00000339447.4_Missense_Mutation_p.P233L|ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Missense_Mutation_p.P274L			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	273	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.			LLPIMF -> PLPNHV (in Ref. 4; AAC39865). {ECO:0000305}.	cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AAACATGATGGGAAGAAGATT	0.363																																																	0													97	81	87					X																	74295234		2203	4300	6503	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.818C>T	X.37:g.74295234G>A	ENSP00000362492:p.Pro273Leu		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.P274L	ENST00000373394.3	37	c.821		X	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713991	0.89112	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.99215	1.0877	10	0.87932	D	0	-5.8477	17.4372	0.87555	0.0:0.0:1.0:0.0	.	247;233;274;273;274	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	247;274;233;273;247	ENSP00000253577:P274L;ENSP00000343849:P233L;ENSP00000362492:P273L;ENSP00000436586:P247L	ENSP00000253577:P274L	P	-	2	0	ABCB7	74211959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.332000	0.79248	0.513000	0.50165	CCC	ABCB7	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.363	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	G	NM_004299		74295234	-1	no_errors	ENST00000253577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74295234	G	A	74295234	3	1	47	1	0	0	0	0	1	0	0	0	46	1232	43	4	1484	4	ABCB7	23	74295234	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	4625079	74295234	80975326	108	6427										
OCRL	4952	genome.wustl.edu	37	chrX	128695163	128695163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cttttttcctcagattccaaGaactggacttgagcacagaa	7	10	1	4			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:128695163G>A	ENST00000371113.4	+	10	997	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	OCRL_ENST00000357121.5_Missense_Mutation_p.E278K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	278	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.E278Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGATTCCAAGAACTGGACTT	0.398																																																	1	Substitution - Missense(1)	breast(1)											152	147	149					X																	128695163		2203	4300	6503	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.832G>A	X.37:g.128695163G>A	ENSP00000360154:p.Glu278Lys		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E278K	ENST00000371113.4	37	c.832	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000567	0.93227	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.98732	-5.1;-5.1	5.44	5.44	0.79542	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97196	0.9861	10	0.87932	D	0	.	17.3438	0.87305	0.0:0.0:1.0:0.0	.	278;278	Q01968-2;Q01968	.;OCRL_HUMAN	K	278	ENSP00000360154:E278K;ENSP00000349635:E278K	ENSP00000349635:E278K	E	+	1	0	OCRL	128522844	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.476000	0.97823	2.395000	0.81488	0.600000	0.82982	GAA	OCRL	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.398	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	G	NM_000276		128695163	1	no_errors	ENST00000371113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128695163	G	A	128695163	3	1	47	1	0	0	0	0	1	0	0	0	10847	943	33	1	870	1	OCRL	23	128695163	Missense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	54399929	128695163	26575397	109	6428										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130215717	130215717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	ccccctttgctgttgttgtcCgccttcatttttttagtgag	8	11	1	1			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:130215717C>T	ENST00000276211.5	+	2	423	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	26					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGTTGTTGTCCGCCTTCATTT	0.532																																																	0													185	133	150					X																	130215717		2203	4300	6503	SO:0001819	synonymous_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.78C>T	X.37:g.130215717C>T			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S26	ENST00000276211.5	37	c.78	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL		0.532	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130215717	1	no_errors	ENST00000276211	ensembl	human	known	70_37	silent	SNP	0.081	T	T	130215717	C	T	130215717	2	4	47	1	0	0	0	0	0	0	0	1	883	639	23	2		2	ARHGAP36	23	130215717	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	1520554	130215717	25054843	110	6429										
SOX3	6658	genome.wustl.edu	37	chrX	139586614	139586614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cgcggtcggtacttgtagtcCggatactccttcatgtgcac	11	12	1	0	rs140549532		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:139586614C>T	ENST00000370536.2	-	1	611	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	204					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ACTTGTAGTCCGGATACTCCT	0.642																																																	0													61	54	56					X																	139586614		2203	4300	6503	SO:0001819	synonymous_variant	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.612G>A	X.37:g.139586614C>T			P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P204	ENST00000370536.2	37	c.612	CCDS14669.1	X																																																																																			SOX3	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.642	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	C			139586614	-1	no_errors	ENST00000370536	ensembl	human	known	70_37	silent	SNP	1.000	T	T	139586614	C	T	139586614	2	4	47	1	0	0	0	0	0	0	0	1	14981	639	23	2		2	SOX3	23	139586614	Silent	SNP	C	TCGA-C5-A7CO-01A-11D-A351-09	9370897	139586614	15683946	111	6430										
FAM58A	92002	genome.wustl.edu	37	chrX	152858020	152858020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.241071428571429	27	9.44056593509902e-05	2.20476903336185	5.57316616766467	1.41220500176118	1	1	15	cacctcaactccgtagacctGcagggccaggtagagcaccg	11	15	1	2			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:152858020G>A	ENST00000406277.2	-	6	697	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	201					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTAGACCTGCAGGGCCAGG	0.687																																																	0													28	27	27					X																	152858020		2203	4299	6502	SO:0001587	stop_gained	92002			BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"cyclin M"	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.595C>T	X.37:g.152858020G>A	ENSP00000384396:p.Gln199*		Q2I380|Q330J9|Q96IU5|Q9BUU1	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q199*	ENST00000406277.2	37	c.595		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.14|18.14	3.558305|3.558305	0.65538|0.65538	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000440428|ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.439260	.|0.26435	.|N	.|0.024392	T|.	0.41419|.	0.1158|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38628|.	-0.9652|.	3|.	.|0.06891	.|T	.|0.86	-17.1794|-17.1794	15.4604|15.4604	0.75353|0.75353	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	93|167;199;167;199;199	.|.	.|ENSP00000276345:Q199X	A|Q	-|-	2|1	0|0	FAM58A|FAM58A	152511214|152511214	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.649000|0.649000	0.38597|0.38597	3.238000|3.238000	0.51352|0.51352	1.976000|1.976000	0.57569|0.57569	0.429000|0.429000	0.28392|0.28392	GCA|CAG	FAM58A	-	superfamily_Cyclin-like,smart_Cyclin-like		0.687	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	FAM58A	HGNC	protein_coding		G	NM_152274		152858020	-1	no_errors	ENST00000406277	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	152858020	G	A	152858020	4	1	47	1	0	0	0	0	0	1	0	0	5608	1328	46	4	153	4	FAM58A	23	152858020	Nonsense_Mutation	SNP	G	TCGA-C5-A7CO-01A-11D-A351-09	13271406	152858020	2412540	112	6431										
USP1	7398	genome.wustl.edu	37	chr1	62910594	62910594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ggaaatgaatggtattaacaGcatagagatggacagtatga	12	3	0	3			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr1:62910594G>T	ENST00000339950.4	+	6	1558	c.743G>T	c.(742-744)aGc>aTc	p.S248I	USP1_ENST00000371146.1_Missense_Mutation_p.S248I	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	248	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGTATTAACAGCATAGAGATG	0.358																																					Ovarian(122;1846 2315 3982 19504)												0													80	83	82					1																	62910594		2203	4298	6501	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.743G>T	1.37:g.62910594G>T	ENSP00000343526:p.Ser248Ile		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S248I	ENST00000339950.4	37	c.743	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948595	0.18356	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.20738	2.05;2.05	5.5	-1.65	0.08291	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.024180	0.07677	N	0.936481	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.18871	0.023	T	0.35549	-0.9784	10	0.42905	T	0.14	0.2606	6.3035	0.21125	0.4046:0.2375:0.358:0.0	.	248	O94782	UBP1_HUMAN	I	248	ENSP00000360188:S248I;ENSP00000343526:S248I	ENSP00000343526:S248I	S	+	2	0	USP1	62683182	0.000000	0.05858	0.000000	0.03702	0.434000	0.31775	0.140000	0.16056	-0.119000	0.11830	0.650000	0.86243	AGC	USP1	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.358	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	G	NM_001017415		62910594	1	no_errors	ENST00000339950	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62910594	G	T	62910594	3	4	48	1	0	0	0	0	1	0	0	0	17071	971	34	4	761	4	USP1	1	62910594	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		62910594	186340027	1	6432										
PDE4B	5142	genome.wustl.edu	37	chr1	66828900	66828900	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	taacatctttaatgtggctgGatattctcacaatagacccc	6	10	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr1:66828900G>C	ENST00000329654.4	+	11	1257	c.1070G>C	c.(1069-1071)gGa>gCa	p.G357A	PDE4B_ENST00000480109.2_Missense_Mutation_p.G124A|PDE4B_ENST00000371049.3_Missense_Mutation_p.G357A|PDE4B_ENST00000423207.2_Missense_Mutation_p.G342A|PDE4B_ENST00000371045.5_Missense_Mutation_p.G185A	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	357					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AATGTGGCTGGATATTCTCAC	0.373																																																	0													93	91	92					1																	66828900		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1070G>C	1.37:g.66828900G>C	ENSP00000332116:p.Gly357Ala		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.G357A	ENST00000329654.4	37	c.1070	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124669	0.37533	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000531025;ENST00000526197;ENST00000480109	T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;2.03;2.04;-0.41	5.96	5.96	0.96718	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.210963	0.50627	D	0.000112	T	0.34919	0.0914	N	0.08118	0	0.39423	D	0.966941	B;B;B;B;B	0.12013	0.0;0.001;0.005;0.0;0.001	B;B;B;B;B	0.09377	0.001;0.002;0.004;0.001;0.001	T	0.27088	-1.0084	10	0.52906	T	0.07	.	15.8507	0.78927	0.0:0.1349:0.8651:0.0	.	124;342;227;347;357	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	A	357;357;357;342;185;138;138;124	ENSP00000332116:G357A;ENSP00000342637:G357A;ENSP00000360088:G357A;ENSP00000392947:G342A;ENSP00000360084:G185A;ENSP00000437249:G138A;ENSP00000436104:G138A;ENSP00000432592:G124A	ENSP00000332116:G357A	G	+	2	0	PDE4B	66601488	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.270000	0.65547	2.831000	0.97527	0.650000	0.86243	GGA	PDE4B	-	NULL		0.373	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66828900	1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	0.999	C	C	66828900	G	C	66828900	3	2	48	1	0	0	0	0	1	0	0	0	11664	1174	41	1	1466	1	PDE4B	1	66828900	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	3918306	66828900	182421721	2	6433										
TCHH	7062	genome.wustl.edu	37	chr1	152082938	152082938	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ttcttggcgccttctcttctCgcgctcctctctctgtagct	7	16	5	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr1:152082938C>G	ENST00000368804.1	-	2	2754	c.2755G>C	c.(2755-2757)Gag>Cag	p.E919Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	919	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCTTCTCGCGCTCCTCT	0.592																																																	0													126	134	132					1																	152082938		2108	4228	6336	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2755G>C	1.37:g.152082938C>G	ENSP00000357794:p.Glu919Gln		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E919Q	ENST00000368804.1	37	c.2755	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	7.769	0.707006	0.15239	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	3.68	-2.24	0.06909	.	.	.	.	.	T	0.00906	0.0030	L	0.32530	0.975	0.09310	N	1	B	0.26672	0.156	B	0.16289	0.015	T	0.48670	-0.9015	9	0.12430	T	0.62	.	1.8118	0.03092	0.3077:0.2437:0.3373:0.1113	.	919	Q07283	TRHY_HUMAN	Q	919	ENSP00000357794:E919Q	ENSP00000357794:E919Q	E	-	1	0	TCHH	150349562	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.450000	0.02390	-0.512000	0.06505	0.455000	0.32223	GAG	TCHH	-	NULL		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152082938	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.000	G	G	152082938	C	G	152082938	3	3	48	1	0	0	0	0	1	0	0	0	15730	893	31	1	3080	1	TCHH	1	152082938	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	85254038	152082938	97167683	3	6434			1	30		2	2	25	C		5.116687e-05
TCHH	7062	genome.wustl.edu	37	chr1	152082962	152082962	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ctcctctctctgtagctcctCctcctcctcctgcagcagct	5	20	2	0	rs572141539		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr1:152082962C>G	ENST00000368804.1	-	2	2730	c.2731G>C	c.(2731-2733)Gag>Cag	p.E911Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	911	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTAGCTCCTCCTCCTCCTCC	0.582																																																	0													119	129	126					1																	152082962		2122	4238	6360	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2731G>C	1.37:g.152082962C>G	ENSP00000357794:p.Glu911Gln		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E911Q	ENST00000368804.1	37	c.2731	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	8.205	0.798959	0.16397	.	.	ENSG00000159450	ENST00000368804	T	0.06933	3.24	4.22	0.544	0.17185	.	.	.	.	.	T	0.01940	0.0061	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.46205	-0.9208	9	0.21014	T	0.42	-2.8438	9.8112	0.40824	0.1138:0.2352:0.651:0.0	.	911	Q07283	TRHY_HUMAN	Q	911	ENSP00000357794:E911Q	ENSP00000357794:E911Q	E	-	1	0	TCHH	150349586	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	-0.431000	0.06965	-0.273000	0.09246	0.455000	0.32223	GAG	TCHH	-	NULL		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152082962	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.001	G	G	152082962	C	G	152082962	3	3	48	1	0	0	0	0	1	0	0	0	15730	864	30	1	3104	1	TCHH	1	152082962	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	24	152082962	97167659	4	6435			1	30		2	2	25	C		5.116687e-05
NVL	4931	genome.wustl.edu	37	chr1	224477278	224477278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aggatttttcttctgctgttCctgtagcttcattaagactc	7	9	3	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr1:224477278C>T	ENST00000281701.6	-	13	1742	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	NVL_ENST00000482491.1_Missense_Mutation_p.E219K|NVL_ENST00000469075.1_Missense_Mutation_p.E404K|NVL_ENST00000340871.4_Missense_Mutation_p.E306K|NVL_ENST00000361463.3_Missense_Mutation_p.E389K|NVL_ENST00000391875.2_Missense_Mutation_p.E389K	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	495						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTCTGCTGTTCCTGTAGCTTC	0.478																																																	0													111	96	101					1																	224477278		2203	4300	6503	SO:0001583	missense	4931			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1483G>A	1.37:g.224477278C>T	ENSP00000281701:p.Glu495Lys		B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase	p.E495K	ENST00000281701.6	37	c.1483	CCDS1541.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.730949|1.730949	0.30684|0.30684	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463|ENST00000469968	D;D;D;D;D;D|.	0.95205|.	-3.49;-3.5;-3.49;-3.39;-3.36;-3.64|.	5.48|5.48	3.55|3.55	0.40652|0.40652	.|.	0.443131|.	0.25272|.	N|.	0.031862|.	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.31476|0.31476	0.935|0.935	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.0;0.004;0.0|.	B;B;B|.	0.09377|.	0.001;0.004;0.001|.	T|T	0.18209|0.18209	-1.0344|-1.0344	10|5	0.07325|.	T|.	0.83|.	-4.4608|-4.4608	9.2778|9.2778	0.37709|0.37709	0.0:0.7321:0.1389:0.129|0.0:0.7321:0.1389:0.129	.|.	306;404;495|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	K|E	495;389;404;219;306;389|377	ENSP00000281701:E495K;ENSP00000375747:E389K;ENSP00000417826:E404K;ENSP00000417213:E219K;ENSP00000341362:E306K;ENSP00000354779:E389K|.	ENSP00000281701:E495K|.	E|G	-|-	1|2	0|0	NVL|NVL	222543901|222543901	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.297000|0.297000	0.27493|0.27493	0.404000|0.404000	0.20999|0.20999	1.409000|1.409000	0.46915|0.46915	0.563000|0.563000	0.77884|0.77884	GAA|GGA	NVL	-	NULL		0.478	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2	C	NM_002533		224477278	-1	no_errors	ENST00000281701	ensembl	human	known	70_37	missense	SNP	0.011	T	T	224477278	C	T	224477278	3	4	48	1	0	0	0	0	1	0	0	0	10804	864	30	1	1131	1	NVL	1	224477278	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	72394316	224477278	24773343	5	6436										
AGBL5	60509	genome.wustl.edu	37	chr2	27278881	27278881	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aacagtctgcggggcttgaaGagtcagcccctgataccatc	11	12	2	3			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr2:27278881G>C	ENST00000360131.4	+	7	1399	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.E414Q	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	414					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCTTGAAGAGTCAGCCCC	0.522																																																	0													168	168	168					2																	27278881		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1240G>C	2.37:g.27278881G>C	ENSP00000353249:p.Glu414Gln		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.E414Q	ENST00000360131.4	37	c.1240	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	5.988	0.366309	0.11352	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.37058	1.22;1.22	5.88	3.06	0.35304	.	1.028630	0.07622	N	0.927130	T	0.31544	0.0800	L	0.46157	1.445	0.19300	N	0.999978	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.007;0.001;0.004	T	0.35151	-0.9800	10	0.13470	T	0.59	-4.6663	9.8923	0.41298	0.0:0.3822:0.4984:0.1195	.	414;414;414	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	Q	414	ENSP00000323681:E414Q;ENSP00000353249:E414Q	ENSP00000323681:E414Q	E	+	1	0	AGBL5	27132385	0.115000	0.22152	0.418000	0.26571	0.102000	0.19082	1.952000	0.40343	0.373000	0.24621	0.491000	0.48974	GAG	AGBL5	-	NULL		0.522	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278881	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	0.429	C	C	27278881	G	C	27278881	3	2	48	1	0	0	0	0	1	0	0	0	378	943	33	1	1262	1	AGBL5	2	27278881	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		27278881	215920492	6	6437										
MYO3B	140469	genome.wustl.edu	37	chr2	171264296	171264296	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gccgatgtggttgtggtcctGagaacgtcagaaaacaagct	13	8	1	2			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr2:171264296G>A	ENST00000408978.4	+	22	2735	c.2592G>A	c.(2590-2592)ctG>ctA	p.L864L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.L873L|MYO3B_ENST00000409044.3_Silent_p.L864L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	864	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTGTGGTCCTGAGAACGTCAG	0.443																																																	0													202	195	197					2																	171264296		1916	4136	6052	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2592G>A	2.37:g.171264296G>A			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.L873	ENST00000408978.4	37	c.2619	CCDS42773.1	2																																																																																			MYO3B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.443	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	G			171264296	1	no_errors	ENST00000334231	ensembl	human	known	70_37	silent	SNP	1.000	A	A	171264296	G	A	171264296	2	1	48	1	0	0	0	0	0	0	0	1	10100	1277	45	1		1	MYO3B	2	171264296	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	143985415	171264296	71935077	7	6438										
TTN	7273	genome.wustl.edu	37	chr2	179582503	179582503	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	agagtctcatgaacgtctttCagttttcttgcaaagaaagg	9	7	4	3			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr2:179582503C>T	ENST00000591111.1	-	85	24371	c.24147G>A	c.(24145-24147)ctG>ctA	p.L8049L	TTN_ENST00000342992.6_Silent_p.L7122L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L8366L			Q8WZ42	TITIN_HUMAN	titin	12239	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACGTCTTTCAGTTTTCTTG	0.418																																																	0													34	33	33					2																	179582503		1845	4098	5943	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24147G>A	2.37:g.179582503C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L7122	ENST00000591111.1	37	c.21366		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179582503	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.996	T	T	179582503	C	T	179582503	2	4	48	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179582503	Silent	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	8318207	179582503	63616870	8	6439										
C2orf60	129450	genome.wustl.edu	37	chr2	200820195	200820195	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ggaggtgctgcccggccatgGttgctcacgcctgccctctt	13	15	2	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr2:200820195G>A	ENST00000354611.4	-	0	264				C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000295079.2_Intron|TYW5_ENST00000452512.2_5'UTR|C2orf47_ENST00000392290.1_5'Flank	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5						wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						CCCGGCCATGGTTGCTCACGC	0.652																																																	0													22	26	25					2																	200820195		1975	4159	6134	SO:0001623	5_prime_UTR_variant	129450			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 60"	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.-2C>T	2.37:g.200820195G>A			B2RNE3|Q8N1R2	RNA	SNP	-	NULL	ENST00000354611.4	37	NULL	CCDS42795.1	2																																																																																			TYW5	-	-		0.652	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW5	HGNC	protein_coding	OTTHUMT00000256144.3	G	NM_001039693		200820195	-1	no_errors	ENST00000452512	ensembl	human	known	70_37	rna	SNP	0.000	A	A	200820195	G	A	200820195	1	1	48	0	1	0	0	0	0	0	0	0	2184	1276	44	4		4	C2orf60	2	200820195	5'UTR	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	21237692	200820195	42379178	9	6440										
PARD3B	117583	genome.wustl.edu	37	chr2	206165403	206165403	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ttcgaggccgaggctgcaatGagagctttagagcagccatt	13	9	0	2			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr2:206165403G>A	ENST00000406610.2	+	17	2542	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	PARD3B_ENST00000462231.1_Missense_Mutation_p.E779K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E717K|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.E779K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	779					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGGCTGCAATGAGAGCTTTAG	0.507																																																	0													99	102	101					2																	206165403		1929	4141	6070	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2335G>A	2.37:g.206165403G>A	ENSP00000385848:p.Glu779Lys		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E779K	ENST00000406610.2	37	c.2335		2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040068	0.93630	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.31769	1.48;1.48;1.48	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.75615	2.305	0.46954	D	0.999264	D;D;D	0.71674	0.998;0.997;0.991	D;D;D	0.77004	0.989;0.981;0.919	T	0.57300	-0.7835	10	0.51188	T	0.08	.	19.9376	0.97146	0.0:0.0:1.0:0.0	.	779;717;779	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	K	779;717;779	ENSP00000385848:E779K;ENSP00000351618:E717K;ENSP00000340280:E779K	ENSP00000340280:E779K	E	+	1	0	PARD3B	205873648	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.712000	0.68407	2.711000	0.92665	0.655000	0.94253	GAG	PARD3B	-	NULL		0.507	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206165403	1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	1.000	A	A	206165403	G	A	206165403	3	1	48	1	0	0	0	0	1	0	0	0	11468	1291	45	1	2401	1	PARD3B	2	206165403	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	5345208	206165403	37033970	10	6441										
MREG	55686	genome.wustl.edu	37	chr2	216809669	216809669	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aggcttcttggggtaagttcGacgagcaagcttaaagaact	12	7	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr2:216809669G>A	ENST00000263268.6	-	5	857	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	188						plasma membrane (GO:0005886)				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GGGTAAGTTCGACGAGCAAGC	0.498																																																	0													60	59	59					2																	216809669		1903	4117	6020	SO:0001587	stop_gained	55686			AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.562C>T	2.37:g.216809669G>A	ENSP00000263268:p.Arg188*		Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Nonsense_Mutation	SNP	NULL	p.R188*	ENST00000263268.6	37	c.562	CCDS46513.1	2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947099	0.92593	.	.	ENSG00000118242	ENST00000236976;ENST00000263268	.	.	.	5.92	5.02	0.67125	.	1.032050	0.07595	N	0.922682	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0694	13.2803	0.60210	0.0:0.1575:0.8425:0.0	.	.	.	.	X	188	.	ENSP00000236976:R188X	R	-	1	2	MREG	216517914	0.155000	0.22806	0.980000	0.43619	0.932000	0.56968	0.958000	0.29227	2.813000	0.96785	0.561000	0.74099	CGA	MREG	-	NULL		0.498	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MREG	HGNC	protein_coding	OTTHUMT00000337297.1	G	NM_018000		216809669	-1	no_errors	ENST00000263268	ensembl	human	known	70_37	nonsense	SNP	0.683	A	A	216809669	G	A	216809669	4	1	48	1	0	0	0	0	0	1	0	0	9783	1066	37	1	86	1	MREG	2	216809669	Nonsense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	10644266	216809669	26389704	11	6442										
ERC2	26059	genome.wustl.edu	37	chr3	56207477	56207477	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aagtgcacagttcctaccttCatttcgatgacagtctggag	9	10	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr3:56207477C>T	ENST00000288221.6	-	4	1401	c.1146G>A	c.(1144-1146)atG>atA	p.M382I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	382						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCCTACCTTCATTTCGATGA	0.453																																																	0													88	91	90					3																	56207477		2105	4236	6341	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1146G>A	3.37:g.56207477C>T	ENSP00000288221:p.Met382Ile		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.M382I	ENST00000288221.6	37	c.1146	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831098	0.91036	.	.	ENSG00000187672	ENST00000288221	T	0.45668	0.89	5.43	5.43	0.79202	.	0.037893	0.85682	D	0.000000	T	0.59376	0.2189	M	0.61703	1.905	0.53688	D	0.999976	P	0.40180	0.705	P	0.52758	0.708	T	0.58081	-0.7699	10	0.56958	D	0.05	-21.2203	19.6011	0.95561	0.0:1.0:0.0:0.0	.	382	O15083	ERC2_HUMAN	I	382	ENSP00000288221:M382I	ENSP00000288221:M382I	M	-	3	0	ERC2	56182517	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.345000	0.79337	2.703000	0.92315	0.557000	0.71058	ATG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot		0.453	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	C	NM_015576		56207477	-1	no_errors	ENST00000288221	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56207477	C	T	56207477	3	4	48	1	0	0	0	0	1	0	0	0	5223	826	29	1	1773	1	ERC2	3	56207477	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		56207477	141814953	12	6443										
TMPRSS7	344805	genome.wustl.edu	37	chr3	111794194	111794194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gcaggagttcctccgcccttCaccgcatcatcggaggcaca	10	16	2	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr3:111794194C>T	ENST00000452346.2	+	15	1813	c.1810C>T	c.(1810-1812)Cac>Tac	p.H604Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.H478Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	604					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCCGCCCTTCACCGCATCAT	0.537																																																	0													99	104	103					3																	111794194		1950	4166	6116	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1810C>T	3.37:g.111794194C>T	ENSP00000398236:p.His604Tyr		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H478Y	ENST00000452346.2	37	c.1432		3	.	.	.	.	.	.	.	.	.	.	C	3.483	-0.105534	0.06967	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.60171	0.21;0.21	4.31	1.51	0.23008	Peptidase cysteine/serine, trypsin-like (1);	0.494247	0.22349	N	0.061231	T	0.34366	0.0895	N	0.17631	0.505	0.21897	N	0.999481	P;B	0.34934	0.476;0.439	B;B	0.33339	0.057;0.162	T	0.23976	-1.0173	10	0.72032	D	0.01	.	2.972	0.05926	0.1435:0.553:0.1396:0.1639	.	604;478	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	Y	604;592;578;478	ENSP00000398236:H604Y;ENSP00000411645:H478Y	ENSP00000411645:H478Y	H	+	1	0	TMPRSS7	113276884	0.806000	0.28996	0.150000	0.22450	0.128000	0.20619	1.192000	0.32150	0.326000	0.23384	0.655000	0.94253	CAC	TMPRSS7	-	superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt		0.537	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	C	XM_293599		111794194	1	no_errors	ENST00000419127	ensembl	human	known	70_37	missense	SNP	0.289	T	T	111794194	C	T	111794194	3	4	48	1	0	0	0	0	1	0	0	0	16282	826	29	1	1478	1	TMPRSS7	3	111794194	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	55586717	111794194	86228236	13	6444										
ESYT3	83850	genome.wustl.edu	37	chr3	138195301	138195301	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ttaggtactgattgacttatCaaaagaagatctgattaagg	9	4	2	5			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr3:138195301C>G	ENST00000389567.4	+	22	2777	c.2591C>G	c.(2590-2592)tCa>tGa	p.S864*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	864					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATTGACTTATCAAAAGAAGAT	0.348																																																	0													151	139	143					3																	138195301		1855	4099	5954	SO:0001587	stop_gained	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2591C>G	3.37:g.138195301C>G	ENSP00000374218:p.Ser864*		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.S864*	ENST00000389567.4	37	c.2591	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	C	41	8.535977	0.98852	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.95	4.95	0.65309	.	0.280593	0.23933	U	0.043135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.6774	15.7284	0.77780	0.0:1.0:0.0:0.0	.	.	.	.	X	864	.	ENSP00000374218:S864X	S	+	2	0	ESYT3	139677991	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.279000	0.51670	2.580000	0.87095	0.555000	0.69702	TCA	ESYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.348	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	C	NM_031913		138195301	1	no_errors	ENST00000389567	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	138195301	C	G	138195301	4	3	48	1	0	0	0	0	0	1	0	0	5278	838	29	1	2677	1	ESYT3	3	138195301	Nonsense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	26401107	138195301	59827129	14	6445										
PLCH1	23007	genome.wustl.edu	37	chr3	155203347	155203347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	atttcttggaagcccattttGctctttttcctgcctttggc	7	11	2	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr3:155203347G>T	ENST00000340059.7	-	22	2795	c.2796C>A	c.(2794-2796)agC>agA	p.S932R	PLCH1_ENST00000447496.2_Missense_Mutation_p.S932R|PLCH1_ENST00000334686.6_Missense_Mutation_p.S894R|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Missense_Mutation_p.S912R|PLCH1_ENST00000460012.1_Missense_Mutation_p.S894R|PLCH1_ENST00000414191.1_Missense_Mutation_p.S894R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	932					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCCCATTTTGCTCTTTTTCC	0.493																																																	0													153	142	146					3																	155203347		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2796C>A	3.37:g.155203347G>T	ENSP00000345988:p.Ser932Arg		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S932R	ENST00000340059.7	37	c.2796	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450237	0.84101	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.32272	1.99;1.92;1.46;1.83;1.92;1.92	5.88	5.0	0.66597	.	0.270333	0.43747	D	0.000530	T	0.47488	0.1448	L	0.54323	1.7	0.48135	D	0.999592	D;D;P	0.65815	0.995;0.992;0.696	D;P;B	0.64237	0.923;0.84;0.419	T	0.16928	-1.0386	10	0.33940	T	0.23	.	15.4227	0.75025	0.0677:0.0:0.9323:0.0	.	894;932;932	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	R	912;894;932;932;894;894	ENSP00000419100:S912R;ENSP00000417502:S894R;ENSP00000402759:S932R;ENSP00000345988:S932R;ENSP00000335469:S894R;ENSP00000412977:S894R	ENSP00000335469:S894R	S	-	3	2	PLCH1	156686041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.875000	0.28079	2.789000	0.95967	0.655000	0.94253	AGC	PLCH1	-	NULL		0.493	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155203347	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155203347	G	T	155203347	3	4	48	1	0	0	0	0	1	0	0	0	12061	1310	46	4	2308	4	PLCH1	3	155203347	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	17008046	155203347	42819083	15	6446										
SOX2	6657	genome.wustl.edu	37	chr3	181430944	181430944	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	cccactccagggcgccctgcCaggccggggacctccgggac	14	19	0	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr3:181430944C>G	ENST00000325404.1	+	1	1223	c.796C>G	c.(796-798)Cag>Gag	p.Q266E	SOX2_ENST00000431565.2_Missense_Mutation_p.Q266E	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	266					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GGCGCCCTGCCAGGCCGGGGA	0.672			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													39	36	37					3																	181430944		2192	4287	6479	SO:0001583	missense	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.796C>G	3.37:g.181430944C>G	ENSP00000323588:p.Gln266Glu		Q14537	Missense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q266E	ENST00000325404.1	37	c.796	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382355	0.42207	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.82526	-1.62;-1.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.64404	1.975	0.80722	D	1	B	0.32040	0.353	B	0.26693	0.072	T	0.78043	-0.2358	10	0.30854	T	0.27	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	266	P48431	SOX2_HUMAN	E	266	ENSP00000439111:Q266E;ENSP00000323588:Q266E	ENSP00000323588:Q266E	Q	+	1	0	SOX2	182913638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.748000	0.68697	2.735000	0.93741	0.655000	0.94253	CAG	SOX2	-	NULL		0.672	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	C	NM_003106		181430944	1	no_errors	ENST00000325404	ensembl	human	known	70_37	missense	SNP	1.000	G	G	181430944	C	G	181430944	3	3	48	1	0	0	0	0	1	0	0	0	14979	595	21	4	798	4	SOX2	3	181430944	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	26227597	181430944	16591486	16	6447										
TET2	54790	genome.wustl.edu	37	chr4	106157306	106157306	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aacacaaccatcccagagttCacatctccctcaaaaccagc	3	17	3	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr4:106157306C>G	ENST00000540549.1	+	3	3067	c.2207C>G	c.(2206-2208)tCa>tGa	p.S736*	TET2_ENST00000413648.2_Nonsense_Mutation_p.S736*|TET2_ENST00000513237.1_Nonsense_Mutation_p.S757*|TET2_ENST00000380013.4_Nonsense_Mutation_p.S736*|TET2_ENST00000545826.1_Nonsense_Mutation_p.S736*|TET2_ENST00000394764.1_Nonsense_Mutation_p.S736*|TET2_ENST00000305737.2_Nonsense_Mutation_p.S736*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	736	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCCCAGAGTTCACATCTCCCT	0.413			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													78	81	80					4																	106157306		2203	4300	6503	SO:0001587	stop_gained	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2207C>G	4.37:g.106157306C>G	ENSP00000442788:p.Ser736*		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.S736*	ENST00000540549.1	37	c.2207	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.158281	0.98683	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.81	4.79	0.61399	.	4.107910	0.00834	N	0.001685	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	15.7779	0.78240	0.0:0.9244:0.0:0.0756	.	.	.	.	X	736;736;736;757;736;736;736	.	ENSP00000265149:S736X	S	+	2	0	TET2	106376755	0.094000	0.21725	0.050000	0.19076	0.860000	0.49131	2.531000	0.45650	2.746000	0.94184	0.655000	0.94253	TCA	TET2	-	NULL		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106157306	1	no_errors	ENST00000380013	ensembl	human	known	70_37	nonsense	SNP	0.011	G	G	106157306	C	G	106157306	4	3	48	1	0	0	0	0	0	1	0	0	15800	838	29	1	2209	1	TET2	4	106157306	Nonsense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		106157306	84996970	17	6448										
TET2	54790	genome.wustl.edu	37	chr4	106157380	106157380	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aggaaatactccagacttttCctcacccccaaagcaacaat	4	14	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr4:106157380C>G	ENST00000540549.1	+	3	3141	c.2281C>G	c.(2281-2283)Cct>Gct	p.P761A	TET2_ENST00000413648.2_Missense_Mutation_p.P761A|TET2_ENST00000513237.1_Missense_Mutation_p.P782A|TET2_ENST00000380013.4_Missense_Mutation_p.P761A|TET2_ENST00000545826.1_Missense_Mutation_p.P761A|TET2_ENST00000394764.1_Missense_Mutation_p.P761A|TET2_ENST00000305737.2_Missense_Mutation_p.P761A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	761	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCAGACTTTTCCTCACCCCCA	0.388			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													62	66	65					4																	106157380		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2281C>G	4.37:g.106157380C>G	ENSP00000442788:p.Pro761Ala		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.P761A	ENST00000540549.1	37	c.2281	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174278	0.09391	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.03717	3.83;4.5;3.83;4.5;4.5;3.83;3.84	5.48	-0.0428	0.13862	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.002;0.002;0.005	B;B;B	0.14578	0.001;0.001;0.011	T	0.49652	-0.8917	9	0.19590	T	0.45	.	6.7328	0.23393	0.0:0.3573:0.2272:0.4155	.	782;761;761	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	A	761;761;761;782;761;761;761	ENSP00000306705:P761A;ENSP00000442788:P761A;ENSP00000442867:P761A;ENSP00000425443:P782A;ENSP00000369351:P761A;ENSP00000378245:P761A;ENSP00000391448:P761A	ENSP00000265149:P761A	P	+	1	0	TET2	106376829	0.001000	0.12720	0.060000	0.19600	0.805000	0.45488	-0.378000	0.07446	-0.361000	0.08125	0.655000	0.94253	CCT	TET2	-	NULL		0.388	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106157380	1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	0.028	G	G	106157380	C	G	106157380	3	3	48	1	0	0	0	0	1	0	0	0	15800	855	30	1	2283	1	TET2	4	106157380	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	74	106157380	84996896	18	6449										
PEX6	5190	genome.wustl.edu	37	chr6	42935238	42935238	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	agctcatgaggaaatgctgtCtgcacatcagcaggcaggtc	12	10	3	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:42935238C>G	ENST00000304611.8	-	8	1821	c.1752G>C	c.(1750-1752)caG>caC	p.Q584H	PEX6_ENST00000244546.4_Missense_Mutation_p.Q584H	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	584					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GAAATGCTGTCTGCACATCAG	0.647																																																	0													40	35	36					6																	42935238		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1752G>C	6.37:g.42935238C>G	ENSP00000303511:p.Gln584His		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.Q584H	ENST00000304611.8	37	c.1752	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582651	0.46006	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.78481	-1.18;-1.18	5.27	4.35	0.52113	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.527136	0.20690	N	0.087470	T	0.61400	0.2344	L	0.46157	1.445	0.38739	D	0.953839	B	0.13145	0.007	B	0.14578	0.011	T	0.66909	-0.5804	10	0.87932	D	0	-11.6035	12.6981	0.57016	0.1644:0.8356:0.0:0.0	.	584	Q13608	PEX6_HUMAN	H	584	ENSP00000303511:Q584H;ENSP00000244546:Q584H	ENSP00000244546:Q584H	Q	-	3	2	PEX6	43043216	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.068000	0.30629	2.454000	0.82982	0.561000	0.74099	CAG	PEX6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.647	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	C	NM_000287		42935238	-1	no_errors	ENST00000304611	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42935238	C	G	42935238	3	3	48	1	0	0	0	0	1	0	0	0	11774	912	32	1	1230	1	PEX6	6	42935238	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		42935238	128179829	19	6450										
ZNF318	24149	genome.wustl.edu	37	chr6	43307344	43307344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gcatttgcttgagcagcagaCggggcagctggatgaggtat	16	7	0	3	rs537066765		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:43307344C>T	ENST00000361428.2	-	10	4469	c.4392G>A	c.(4390-4392)ccG>ccA	p.P1464P	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1464	Pro-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAGCAGCAGACGGGGCAGCTG	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		12293	0		0	False		,,,				2504	0																0													44	41	42					6																	43307344		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4392G>A	6.37:g.43307344C>T			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.P1464	ENST00000361428.2	37	c.4392	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.527	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43307344	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	0.077	T	T	43307344	C	T	43307344	2	4	48	1	0	0	0	0	0	0	0	1	17866	523	19	2		2	ZNF318	6	43307344	Silent	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	372106	43307344	127807723	20	6451										
DST	667	genome.wustl.edu	37	chr6	56480748	56480748	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	acccctcatcaaccaggcctCtatgcaaagcttcggccacc	6	18	3	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:56480748C>T	ENST00000370765.6	-	24	7624	c.7517G>A	c.(7516-7518)aGa>aAa	p.R2506K	DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1802					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACCAGGCCTCTATGCAAAGC	0.512																																																	0													78	81	80					6																	56480748		2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7517G>A	6.37:g.56480748C>T	ENSP00000359801:p.Arg2506Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R2506K	ENST00000370765.6	37	c.7517	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	2.703	-0.270547	0.05716	.	.	ENSG00000151914	ENST00000370765	T	0.78246	-1.16	5.94	3.95	0.45737	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.20273	-1.0280	7	0.37606	T	0.19	.	7.1415	0.25558	0.136:0.7159:0.0:0.1482	.	2506	Q03001-3	.	K	2506	ENSP00000359801:R2506K	ENSP00000359801:R2506K	R	-	2	0	DST	56588707	1.000000	0.71417	0.705000	0.30386	0.622000	0.37654	2.215000	0.42862	0.693000	0.31634	0.557000	0.71058	AGA	DST	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.512	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56480748	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	missense	SNP	0.946	T	T	56480748	C	T	56480748	3	4	48	1	0	0	0	0	1	0	0	0	4793	913	32	1	12882	1	DST	6	56480748	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	13173404	56480748	114634319	21	6452										
EYS	346007	genome.wustl.edu	37	chr6	65707507	65707507	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tttgcaggtagaattgtgctCacaggcattcaggatgcagt	12	7	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:65707507C>T	ENST00000370621.3	-	14	2753	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	EYS_ENST00000503581.1_Missense_Mutation_p.E743K|EYS_ENST00000370616.2_Missense_Mutation_p.E743K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	743	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAATTGTGCTCACAGGCATTC	0.398																																																	0													148	119	128					6																	65707507		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2227G>A	6.37:g.65707507C>T	ENSP00000359655:p.Glu743Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E743K	ENST00000370621.3	37	c.2227		6	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015316	0.35511	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.90955	-2.76;-2.76;-2.76	4.89	3.11	0.35812	.	0.257278	0.20575	N	0.089642	T	0.61060	0.2317	N	0.12569	0.235	0.80722	D	1	B	0.31318	0.319	B	0.30105	0.111	T	0.60276	-0.7295	10	0.06494	T	0.89	.	7.9432	0.29971	0.0:0.7446:0.0:0.2554	.	743	Q5T1H1-1	.	K	743	ENSP00000424243:E743K;ENSP00000359655:E743K;ENSP00000359650:E743K	ENSP00000359650:E743K	E	-	1	0	EYS	65764228	0.759000	0.28416	0.241000	0.24154	0.951000	0.60555	0.546000	0.23284	0.484000	0.27630	0.655000	0.94253	GAG	EYS	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		65707507	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.979	T	T	65707507	C	T	65707507	3	4	48	1	0	0	0	0	1	0	0	0	5344	835	29	1	7172	1	EYS	6	65707507	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	9226759	65707507	105407560	22	6453										
CNR1	1268	genome.wustl.edu	37	chr6	88853991	88853991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	taacctaatgtccatgcgggCttggtctggccgggtcacct	12	12	2	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:88853991C>T	ENST00000537554.1	-	2	4565	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	CNR1_ENST00000549716.1_Missense_Mutation_p.A274T|CNR1_ENST00000369499.2_Missense_Mutation_p.A335T|CNR1_ENST00000535130.1_Missense_Mutation_p.A335T|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.A335T|CNR1_ENST00000468898.1_Missense_Mutation_p.A302T|CNR1_ENST00000369501.2_Missense_Mutation_p.A335T|CNR1_ENST00000549890.1_Missense_Mutation_p.A335T	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	335					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCCATGCGGGCTTGGTCTGGC	0.562																																																	0													162	167	165					6																	88853991		2203	4300	6503	SO:0001583	missense	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1003G>A	6.37:g.88853991C>T	ENSP00000441046:p.Ala335Thr		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Cnoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.A335T	ENST00000537554.1	37	c.1003	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	C	4.304	0.055694	0.08291	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.05	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.198416	0.52532	N	0.000069	T	0.35008	0.0917	L	0.32530	0.975	0.41235	D	0.986601	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.31503	-0.9941	10	0.22706	T	0.39	.	4.3691	0.11239	0.0:0.5763:0.0:0.4237	.	302;335	P21554-3;P21554	.;CNR1_HUMAN	T	335;335;335;335;335;302;335;274	ENSP00000358513:A335T;ENSP00000442689:A335T;ENSP00000441046:A335T;ENSP00000358511:A335T;ENSP00000446819:A335T;ENSP00000420188:A302T;ENSP00000412192:A335T;ENSP00000449549:A274T	ENSP00000358511:A335T	A	-	1	0	CNR1	88910710	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	1.249000	0.32839	1.575000	0.49775	0.655000	0.94253	GCC	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Cnoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt		0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	C			88853991	-1	no_errors	ENST00000369499	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88853991	C	T	88853991	3	4	48	1	0	0	0	0	1	0	0	0	3636	797	28	4	419	4	CNR1	6	88853991	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	23146484	88853991	82261076	23	6454										
MANEA	79694	genome.wustl.edu	37	chr6	96034516	96034516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ttccaaaagagtgacagaatCaacagtgaaacaaataccaa	6	8	1	4			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:96034516C>T	ENST00000358812.4	+	2	335	c.201C>T	c.(199-201)atC>atT	p.I67I	MANEA_ENST00000369293.1_Silent_p.I67I	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	67	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GTGACAGAATCAACAGTGAAA	0.363																																																	0													84	86	85					6																	96034516		2203	4300	6503	SO:0001819	synonymous_variant	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.201C>T	6.37:g.96034516C>T			A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	superfamily_Glycoside_hydrolase_SF	p.I67	ENST00000358812.4	37	c.201	CCDS5032.1	6																																																																																			MANEA	-	NULL		0.363	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	C	NM_024641		96034516	1	no_errors	ENST00000358812	ensembl	human	known	70_37	silent	SNP	0.002	T	T	96034516	C	T	96034516	2	4	48	1	0	0	0	0	0	0	0	1	9244	816	29	1		1	MANEA	6	96034516	Silent	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	7180525	96034516	75080551	24	6455										
ULBP1	80329	genome.wustl.edu	37	chr6	150290300	150290300	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ggatcttggcagttcctcttCaatggacagaagttcctcct	9	11	3	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr6:150290300C>T	ENST00000229708.3	+	3	472	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	143	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		AGTTCCTCTTCAATGGACAGA	0.522																																																	0													89	87	88					6																	150290300		2203	4300	6503	SO:0001819	synonymous_variant	80329			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.429C>T	6.37:g.150290300C>T			Q5VY81|Q8IZW3|Q8IZX6	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.F143	ENST00000229708.3	37	c.429	CCDS5223.1	6																																																																																			ULBP1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.522	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP1	HGNC	protein_coding	OTTHUMT00000042677.2	C			150290300	1	no_errors	ENST00000229708	ensembl	human	known	70_37	silent	SNP	0.000	T	T	150290300	C	T	150290300	2	4	48	1	0	0	0	0	0	0	0	1	17003	825	29	1		1	ULBP1	6	150290300	Silent	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	54255784	150290300	20824767	25	6456										
HOXA1	3198	genome.wustl.edu	37	chr7	27135385	27135385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	cccactaggaagcggtcgtcGccgccgcaactgttggcgct	13	15	0	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr7:27135385G>A	ENST00000343060.4	-	1	208	c.147C>T	c.(145-147)ggC>ggT	p.G49G	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.G49G	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	49					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGGTCGTCGCCGCCGCAAC	0.662											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													43	48	46					7																	27135385		2202	4300	6502	SO:0001819	synonymous_variant	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.147C>T	7.37:g.27135385G>A		792	A4D184|B2R8U7|O43363	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G49	ENST00000343060.4	37	c.147	CCDS5401.1	7																																																																																			HOXA1	-	NULL		0.662	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	HGNC	protein_coding	OTTHUMT00000358454.1	G			27135385	-1	no_errors	ENST00000343060	ensembl	human	known	70_37	silent	SNP	0.998	A	A	27135385	G	A	27135385	2	1	48	1	0	0	0	0	0	0	0	1	7308	1074	38	2		2	HOXA1	7	27135385	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		27135385	132003278	26	6457										
BAZ1B	9031	genome.wustl.edu	37	chr7	72907165	72907165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tagtttcacatcatatttgtGaggcagaaattttggaggag	11	4	2	2			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr7:72907165G>C	ENST00000339594.4	-	5	996	c.658C>G	c.(658-660)Cac>Gac	p.H220D	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H220D	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	220	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCATATTTGTGAGGCAGAAAT	0.343																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													122	118	120					7																	72907165		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.658C>G	7.37:g.72907165G>C	ENSP00000342434:p.His220Asp		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.H220D	ENST00000339594.4	37	c.658	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193771	0.78902	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58506	0.33;0.33	5.71	5.71	0.89125	.	0.053789	0.64402	D	0.000001	T	0.50667	0.1629	L	0.29908	0.895	0.58432	D	0.999995	P	0.48764	0.915	B	0.42062	0.374	T	0.55780	-0.8087	10	0.59425	D	0.04	-16.6076	18.8345	0.92155	0.0:0.0:1.0:0.0	.	220	Q9UIG0	BAZ1B_HUMAN	D	220	ENSP00000342434:H220D;ENSP00000385442:H220D	ENSP00000342434:H220D	H	-	1	0	BAZ1B	72545101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.952000	0.75989	2.690000	0.91761	0.585000	0.79938	CAC	BAZ1B	-	NULL		0.343	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	G	NM_032408		72907165	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72907165	G	C	72907165	3	2	48	1	0	0	0	0	1	0	0	0	1331	1290	45	1	3853	1	BAZ1B	7	72907165	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	45771780	72907165	86231498	27	6458										
PON3	5446	genome.wustl.edu	37	chr7	95025649	95025649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	cccccagcaggaccagcgccAcgagcttccccatggtctcg	10	19	1	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr7:95025649A>G	ENST00000265627.5	-	1	24	c.14T>C	c.(13-15)gTg>gCg	p.V5A	PON3_ENST00000427422.1_Missense_Mutation_p.V5A|PON3_ENST00000451904.1_Missense_Mutation_p.V5A|PON3_ENST00000475439.1_5'Flank|PON1_ENST00000542556.1_Missense_Mutation_p.V5A	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	5					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GACCAGCGCCACGAGCTTCCC	0.677																																																	0													91	82	85					7																	95025649		2203	4300	6503	SO:0001583	missense	5444			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.14T>C	7.37:g.95025649A>G	ENSP00000265627:p.Val5Ala		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1	p.V5A	ENST00000265627.5	37	c.14	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242980	0.39697	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.40225	1.04;1.04;1.31	4.45	3.31	0.37934	Six-bladed beta-propeller, TolB-like (1);	0.849335	0.10580	N	0.658080	T	0.31420	0.0796	L	0.35723	1.085	0.09310	N	1	B;B;B	0.14438	0.01;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.19031	-1.0318	10	0.39692	T	0.17	-1.1973	6.6476	0.22945	0.8951:0.0:0.1049:0.0	.	5;5;5	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	A	5	ENSP00000444854:V5A;ENSP00000265627:V5A;ENSP00000413276:V5A	ENSP00000444854:V5A	V	-	2	0	PON1;PON3	94863585	0.069000	0.21087	0.052000	0.19188	0.692000	0.40212	1.905000	0.39878	1.053000	0.40415	0.459000	0.35465	GTG	PON1	-	NULL		0.677	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON1	HGNC	protein_coding	OTTHUMT00000333007.1	A	NM_000940		95025649	-1	no_errors	ENST00000542556	ensembl	human	known	70_37	missense	SNP	0.056	G	G	95025649	A	G	95025649	3	3	48	1	0	0	0	0	1	0	0	0	12274	159	6	5	1086	5	PON3	7	95025649	Missense_Mutation	SNP	A	TCGA-C5-A7UC-01A-11D-A351-09	22118484	95025649	64113014	28	6459										
ARPC1A	10552	genome.wustl.edu	37	chr7	98951669	98951669	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ggtccacggggtaagcttctCtgccagtgggagccgcctgg	16	12	1	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr7:98951669C>G	ENST00000262942.5	+	6	762	c.638C>G	c.(637-639)tCt>tGt	p.S213C	ARPC1A_ENST00000432884.2_Missense_Mutation_p.S166C|ARPC1A_ENST00000471960.1_3'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	213					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GTAAGCTTCTCTGCCAGTGGG	0.587																																																	0													60	63	62					7																	98951669		2203	4300	6503	SO:0001583	missense	10552			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	703	protein-coding gene	gene with protein product	"actin binding protein (Schizosaccharomyces pombe sop2-like)", "SOP2-like protein"	604220	"actin related protein 2/3 complex, subunit 1A (41 kD)"			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.638C>G	7.37:g.98951669C>G	ENSP00000262942:p.Ser213Cys		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S213C	ENST00000262942.5	37	c.638	CCDS5660.1	7	.	.	.	.	.	.	.	.	.	.	c	26.5	4.746641	0.89663	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.72725	-0.68;-0.68	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90572	0.4523	10	0.87932	D	0	.	18.7488	0.91806	0.0:1.0:0.0:0.0	.	208;213	Q53GB6;Q92747	.;ARC1A_HUMAN	C	166;213	ENSP00000408578:S166C;ENSP00000262942:S213C	ENSP00000262942:S213C	S	+	2	0	ARPC1A	98789605	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.779000	0.85648	2.516000	0.84829	0.555000	0.69702	TCT	ARPC1A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1		0.587	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	HGNC	protein_coding	OTTHUMT00000335908.1	C	NM_006409		98951669	1	no_errors	ENST00000262942	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98951669	C	G	98951669	3	3	48	1	0	0	0	0	1	0	0	0	970	913	32	1	656	1	ARPC1A	7	98951669	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	3926020	98951669	60186994	29	6460										
MUC17	140453	genome.wustl.edu	37	chr7	100682525	100682525	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tacctgtcaccacttctactGaaaccagttcatctcctaca	3	15	4	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr7:100682525G>C	ENST00000306151.4	+	3	7892	c.7828G>C	c.(7828-7830)Gaa>Caa	p.E2610Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2610	59 X approximate tandem repeats.|Ser-rich.				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)			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)					CACTTCTACTGAAACCAGTTC	0.448																																																	0													249	252	251					7																	100682525		2203	4300	6503	SO:0001583	missense	140453			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.7828G>C	7.37:g.100682525G>C	ENSP00000302716:p.Glu2610Gln		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E2610Q	ENST00000306151.4	37	c.7828	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077274	0.01903	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	0.673	-0.319	0.12725	.	.	.	.	.	T	0.00967	0.0032	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49072	-0.8977	9	0.13470	T	0.59	.	6.4507	0.21902	0.0:0.3075:0.6925:0.0	.	2610	Q685J3	MUC17_HUMAN	Q	2610	ENSP00000302716:E2610Q	ENSP00000302716:E2610Q	E	+	1	0	MUC17	100469245	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.513000	0.06305	-0.134000	0.11516	-1.525000	0.00928	GAA	MUC17	-	NULL		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100682525	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.001	C	C	100682525	G	C	100682525	3	2	48	1	0	0	0	0	1	0	0	0	9997	1291	45	1	7838	1	MUC17	7	100682525	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	1730856	100682525	58456138	30	6461										
RBM33	155435	genome.wustl.edu	37	chr7	155537712	155537712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	taaagatagaagaacagaaaCgcctaagagaagaaatcctg	9	6	0	6			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr7:155537712C>T	ENST00000401878.3	+	14	2593	c.2395C>T	c.(2395-2397)Cgc>Tgc	p.R799C	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	799							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGAACAGAAACGCCTAAGAGA	0.458																																																	0													25	26	26					7																	155537712		2203	4300	6503	SO:0001583	missense	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2395C>T	7.37:g.155537712C>T	ENSP00000384160:p.Arg799Cys		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.R799C	ENST00000401878.3	37	c.2395	CCDS5941.2	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739281	0.89573	.	.	ENSG00000184863	ENST00000401878	T	0.61627	0.09	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000002	T	0.76040	0.3932	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76187	-0.3051	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	516;799	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	799	ENSP00000384160:R799C	ENSP00000384160:R799C	R	+	1	0	RBM33	155230473	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.138000	0.77305	2.824000	0.97209	0.655000	0.94253	CGC	RBM33	-	NULL		0.458	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	C	NM_001008408		155537712	1	no_errors	ENST00000401878	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155537712	C	T	155537712	3	4	48	1	0	0	0	0	1	0	0	0	13160	536	19	2	2449	2	RBM33	7	155537712	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	54855187	155537712	3600951	31	6462										
PXDNL	137902	genome.wustl.edu	37	chr8	52359699	52359699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	agaggagagaactgtatgctGgccttccacagggagctgcc	14	10	0	2			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr8:52359699G>T	ENST00000356297.4	-	12	1490	c.1390C>A	c.(1390-1392)Cag>Aag	p.Q464K	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q464K	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	464	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTGTATGCTGGCCTTCCACA	0.512																																																	0													109	107	107					8																	52359699		2028	4190	6218	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1390C>A	8.37:g.52359699G>T	ENSP00000348645:p.Gln464Lys		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.Q464K	ENST00000356297.4	37	c.1390	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	2.349	-0.349263	0.05173	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.80909	-1.43;-1.43	3.89	3.01	0.34805	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61578	0.2358	N	0.11341	0.13	0.19945	N	0.99994	B	0.02656	0.0	B	0.08055	0.003	T	0.48547	-0.9026	9	0.30078	T	0.28	.	7.3871	0.26888	0.1282:0.0:0.8718:0.0	.	464	A1KZ92	PXDNL_HUMAN	K	464	ENSP00000348645:Q464K;ENSP00000444865:Q464K	ENSP00000348645:Q464K	Q	-	1	0	PXDNL	52522252	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	0.546000	0.23284	0.613000	0.30089	0.467000	0.42956	CAG	PXDNL	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	G	NM_144651		52359699	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	missense	SNP	0.685	T	T	52359699	G	T	52359699	3	4	48	1	0	0	0	0	1	0	0	0	12878	1357	47	4	3049	4	PXDNL	8	52359699	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		52359699	94004323	32	6463										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110497378	110497378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ataaaattctcattcttaatGatagcctttcctatactcac	2	10	3	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr8:110497378G>A	ENST00000378402.5	+	58	9786	c.9682G>A	c.(9682-9684)Gat>Aat	p.D3228N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3228					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTTAATGATAGCCTTTC	0.313										HNSCC(38;0.096)																																							0													119	119	119					8																	110497378		1829	4080	5909	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9682G>A	8.37:g.110497378G>A	ENSP00000367655:p.Asp3228Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D3228N	ENST00000378402.5	37	c.9682	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963069	0.34659	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85411	-1.98;-1.8	5.3	4.39	0.52855	Pectin lyase fold/virulence factor (1);	0.468936	0.22432	N	0.060122	T	0.74076	0.3669	N	0.17723	0.515	0.23903	N	0.996515	B	0.17852	0.024	B	0.22386	0.039	T	0.56571	-0.7957	10	0.16896	T	0.51	.	13.0823	0.59121	0.0:0.0:0.8391:0.1609	.	3228	Q86WI1	PKHL1_HUMAN	N	3228;156	ENSP00000367655:D3228N;ENSP00000437376:D156N	ENSP00000367655:D3228N	D	+	1	0	PKHD1L1	110566554	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.950000	0.49081	2.463000	0.83235	0.563000	0.77884	GAT	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110497378	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110497378	G	A	110497378	3	1	48	1	0	0	0	0	1	0	0	0	11996	1290	45	1	9912	1	PKHD1L1	8	110497378	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	58137679	110497378	35866644	33	6464										
MPDZ	8777	genome.wustl.edu	37	chr9	13140127	13140127	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	caatggagccttctctggctCtgactctgactgactgggtg	12	11	3	3			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr9:13140127C>G	ENST00000319217.7	-	28	4109	c.3862G>C	c.(3862-3864)Gag>Cag	p.E1288Q	MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1288Q|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1255Q|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1302Q|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1288Q|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1255Q|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1288Q|MPDZ_ENST00000538841.1_Missense_Mutation_p.E147Q	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1288					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCTCTGGCTCTGACTCTGAC	0.478																																																	0													132	138	136					9																	13140127		1963	4159	6122	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3862G>C	9.37:g.13140127C>G	ENSP00000320006:p.Glu1288Gln		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E1288Q	ENST00000319217.7	37	c.3862		9	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536119	0.64972	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.47869	2.89;2.84;2.84;2.7;2.83;2.88;2.93;2.89;2.88;0.83	5.94	5.02	0.67125	.	0.297938	0.23941	N	0.043045	T	0.60261	0.2255	M	0.63843	1.955	0.80722	D	1	P;B;P;D;P	0.63046	0.77;0.014;0.846;0.992;0.846	B;B;P;P;P	0.58210	0.432;0.019;0.557;0.835;0.557	T	0.56992	-0.7887	10	0.18710	T	0.47	.	16.9495	0.86240	0.0:0.8721:0.1279:0.0	.	1255;147;1255;1168;1288	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	Q	1288;1288;1288;224;147;1255;1255;1288;1168;1302;110	ENSP00000320006:E1288Q;ENSP00000439807:E1288Q;ENSP00000370410:E1288Q;ENSP00000444230:E224Q;ENSP00000444717:E147Q;ENSP00000444151:E1255Q;ENSP00000415208:E1255Q;ENSP00000370403:E1288Q;ENSP00000446358:E1302Q;ENSP00000389705:E110Q	ENSP00000320006:E1288Q	E	-	1	0	MPDZ	13130127	0.988000	0.35896	0.368000	0.25939	0.817000	0.46193	2.962000	0.49176	1.474000	0.48178	0.557000	0.71058	GAG	MPDZ	-	NULL		0.478	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13140127	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	0.965	G	G	13140127	C	G	13140127	3	3	48	1	0	0	0	0	1	0	0	0	9745	922	32	1	2339	1	MPDZ	9	13140127	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		13140127	128073304	34	6465										
TNC	3371	genome.wustl.edu	37	chr9	117822051	117822051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tactggtgttctatagccccGgatcaccccatagatggaga	10	11	2	2			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr9:117822051G>A	ENST00000350763.4	-	14	4675	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	TNC_ENST00000341037.4_Missense_Mutation_p.R1331W|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.R1422W|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1422	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTATAGCCCCGGATCACCCCA	0.572																																																	0													132	140	138					9																	117822051		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4264C>T	9.37:g.117822051G>A	ENSP00000265131:p.Arg1422Trp		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1422W	ENST00000350763.4	37	c.4264	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189647	0.78789	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.58060	0.36;0.36;0.36	5.69	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.714583	0.13239	N	0.402988	T	0.69620	0.3131	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.59595	0.86;0.806	T	0.71048	-0.4705	10	0.72032	D	0.01	.	15.7277	0.77774	0.0:0.0:0.8622:0.1378	.	1422;1422	E9PC84;P24821	.;TENA_HUMAN	W	1422;1331;1422	ENSP00000265131:R1422W;ENSP00000339553:R1331W;ENSP00000411406:R1422W	ENSP00000339553:R1331W	R	-	1	2	TNC	116861872	0.981000	0.34729	0.971000	0.41717	0.973000	0.67179	1.371000	0.34250	1.340000	0.45581	0.563000	0.77884	CGG	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	G	NM_002160		117822051	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.993	A	A	117822051	G	A	117822051	3	1	48	1	0	0	0	0	1	0	0	0	16300	1115	39	2	2401	2	TNC	9	117822051	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	104681924	117822051	23391380	35	6466										
LAMC3	10319	genome.wustl.edu	37	chr9	133914593	133914593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gactggctggaagtgtgaccGctgtctgcccgggttccact	14	12	1	1	rs372564761		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr9:133914593G>A	ENST00000361069.4	+	6	1374	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	414	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AAGTGTGACCGCTGTCTGCCC	0.632																																																	0								G	HIS/ARG	0,4406		0,0,2203	57	51	53		1241	3.3	1	9		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMC3	NM_006059.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	414/1576	133914593	1,13005	2203	4300	6503	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1241G>A	9.37:g.133914593G>A	ENSP00000354360:p.Arg414His		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R414H	ENST00000361069.4	37	c.1241	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330588	0.81690	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.64260	-0.09	5.12	3.28	0.37604	EGF-like, laminin (4);	0.353196	0.32655	N	0.005820	T	0.75671	0.3881	M	0.84219	2.685	0.37163	D	0.902674	D	0.69078	0.997	P	0.61722	0.893	T	0.79978	-0.1575	10	0.56958	D	0.05	.	10.5961	0.45338	0.1588:0.0:0.8412:0.0	.	414	Q9Y6N6	LAMC3_HUMAN	H	414	ENSP00000354360:R414H	ENSP00000325873:R414H	R	+	2	0	LAMC3	132904414	0.687000	0.27671	1.000000	0.80357	0.924000	0.55760	2.070000	0.41491	0.664000	0.31047	0.655000	0.94253	CGC	LAMC3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133914593	1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.994	A	A	133914593	G	A	133914593	3	1	48	1	0	0	0	0	1	0	0	0	8636	1087	38	2	1263	2	LAMC3	9	133914593	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	16092542	133914593	7298838	36	6467										
APBB1IP	54518	genome.wustl.edu	37	chr10	26800778	26800778	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	acaaccttttcgagaaaactCattgtgactgcaatgtagac	7	9	1	3			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr10:26800778C>G	ENST00000376236.4	+	7	1089	c.634C>G	c.(634-636)Cat>Gat	p.H212D	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	212	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CGAGAAAACTCATTGTGACTG	0.473																																																	0													160	150	153					10																	26800778		2203	4300	6503	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.634C>G	10.37:g.26800778C>G	ENSP00000365411:p.His212Asp		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.H212D	ENST00000376236.4	37	c.634	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820050	0.90873	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.75367	-0.93	5.65	5.65	0.86999	Ras-association (3);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	M	0.82132	2.575	0.80722	D	1	P;D	0.89917	0.774;1.0	P;D	0.91635	0.809;0.999	D	0.88244	0.2912	10	0.66056	D	0.02	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	212;212	B4E100;Q7Z5R6	.;AB1IP_HUMAN	D	212	ENSP00000365411:H212D	ENSP00000365411:H212D	H	+	1	0	APBB1IP	26840784	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.471000	0.80985	2.661000	0.90470	0.655000	0.94253	CAT	APBB1IP	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.473	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	C	NM_019043		26800778	1	no_errors	ENST00000376236	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26800778	C	G	26800778	3	3	48	1	0	0	0	0	1	0	0	0	760	826	29	1	652	1	APBB1IP	10	26800778	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		26800778	108733969	37	6468										
CNNM1	26507	genome.wustl.edu	37	chr10	101090572	101090572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gaccagcggcacaacattgtGgacattttatttgtcaagga	10	8	1	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr10:101090572G>A	ENST00000356713.4	+	1	1717	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	CNNM1_ENST00000370534.4_Silent_p.V111V|CNNM1_ENST00000370528.3_Silent_p.V405V|CNNM1_ENST00000446890.1_Silent_p.V405V	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	476	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACAACATTGTGGACATTTTAT	0.592																																																	0													89	73	78					10																	101090572		2203	4300	6503	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1428G>A	10.37:g.101090572G>A			Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.V476	ENST00000356713.4	37	c.1428	CCDS7478.2	10																																																																																			CNNM1	-	NULL		0.592	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	G	NM_020348		101090572	1	no_errors	ENST00000356713	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101090572	G	A	101090572	2	1	48	1	0	0	0	0	0	0	0	1	3617	1335	47	4		4	CNNM1	10	101090572	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	74289794	101090572	34444175	38	6469										
GFRA1	2674	genome.wustl.edu	37	chr10	118031536	118031536	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gcgaagtacagggtcgccagGaacatggtgccggcgcgggg	19	10	0	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr10:118031536G>C	ENST00000355422.6	-	2	556	c.6C>G	c.(4-6)ttC>ttG	p.F2L	GFRA1_ENST00000439649.3_Missense_Mutation_p.F2L|GFRA1_ENST00000490345.1_5'UTR|GFRA1_ENST00000369236.1_Missense_Mutation_p.F2L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	2					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGGTCGCCAGGAACATGGTGC	0.677																																					Ovarian(128;329 1725 45498 46808 50759)												0													7	10	9					10																	118031536		2094	4117	6211	SO:0001583	missense	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.6C>G	10.37:g.118031536G>C	ENSP00000347591:p.Phe2Leu		A8KA21|O15507|O43912	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.F2L	ENST00000355422.6	37	c.6	CCDS44481.1	10	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430984	0.62844	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.29655	1.56;1.56;1.57;1.57	5.51	3.42	0.39159	.	1.022860	0.07784	N	0.953842	T	0.23727	0.0574	L	0.36672	1.1	0.80722	D	1	B;B	0.20780	0.028;0.048	B;B	0.18561	0.01;0.022	T	0.05115	-1.0905	10	0.13853	T	0.58	-10.8117	8.8753	0.35340	0.3011:0.0:0.6989:0.0	.	2;2	P56159;P56159-2	GFRA1_HUMAN;.	L	2	ENSP00000393725:F2L;ENSP00000358239:F2L;ENSP00000347591:F2L;ENSP00000358237:F2L	ENSP00000347591:F2L	F	-	3	2	GFRA1	118021526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.377000	0.34317	1.320000	0.45209	0.561000	0.74099	TTC	GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.677	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	G	NM_145793		118031536	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118031536	G	C	118031536	3	2	48	1	0	0	0	0	1	0	0	0	6366	1165	41	1	1431	1	GFRA1	10	118031536	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	16940964	118031536	17503211	39	6470										
DMBT1	1755	genome.wustl.edu	37	chr10	124336050	124336050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	caatgatgccaacgtggtctGtaggcagctgggttgtggct	15	8	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr10:124336050G>T	ENST00000338354.3	+	7	525	c.419G>T	c.(418-420)tGt>tTt	p.C140F	DMBT1_ENST00000368909.3_Missense_Mutation_p.C140F|DMBT1_ENST00000330163.4_Missense_Mutation_p.C140F|DMBT1_ENST00000368956.2_Missense_Mutation_p.C140F|DMBT1_ENST00000359586.6_Missense_Mutation_p.C140F|DMBT1_ENST00000368955.3_Missense_Mutation_p.C140F|DMBT1_ENST00000344338.3_Missense_Mutation_p.C140F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	140	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACGTGGTCTGTAGGCAGCTG	0.607																																					Ovarian(182;93 2026 18125 22222 38972)												0													188	192	191					10																	124336050		2121	4264	6385	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.419G>T	10.37:g.124336050G>T	ENSP00000342210:p.Cys140Phe		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.C140F	ENST00000338354.3	37	c.419		10	.	.	.	.	.	.	.	.	.	.	g	16.14	3.039635	0.55003	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	4.63	4.63	0.57726	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.98043	0.9355	H	0.99942	5.005	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.99878	1.1107	9	0.87932	D	0	.	17.8516	0.88748	0.0:0.0:1.0:0.0	.	140;140;140;140;140	F8WEF7;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	F	140	ENSP00000342210:C140F;ENSP00000343175:C140F;ENSP00000327747:C140F;ENSP00000357905:C140F;ENSP00000357951:C140F;ENSP00000357952:C140F;ENSP00000352593:C140F	ENSP00000331522:C140F	C	+	2	0	DMBT1	124326040	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	7.561000	0.82288	2.284000	0.76573	0.655000	0.94253	TGT	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124336050	1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124336050	G	T	124336050	3	4	48	1	0	0	0	0	1	0	0	0	4587	1377	48	4	445	4	DMBT1	10	124336050	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	6304514	124336050	11198697	40	6471										
PACSIN3	29763	genome.wustl.edu	37	chr11	47204045	47204045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gcgcgctcctggaagcagctGaccaggtccccgcacagccg	13	17	0	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr11:47204045G>A	ENST00000539589.1	-	4	462	c.120C>T	c.(118-120)gtC>gtT	p.V40V	PACSIN3_ENST00000298838.6_Silent_p.V40V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	40	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GGAAGCAGCTGACCAGGTCCC	0.657																																																	0													54	54	54					11																	47204045		2201	4298	6499	SO:0001819	synonymous_variant	29763			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.120C>T	11.37:g.47204045G>A			A6NH84|Q9H331|Q9NWV9	Silent	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.V40	ENST00000539589.1	37	c.120	CCDS31481.1	11																																																																																			PACSIN3	-	pfam_FCH,smart_FCH,pfscan_FCH		0.657	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN3	HGNC	protein_coding	OTTHUMT00000391632.1	G	NM_016223		47204045	-1	no_errors	ENST00000298838	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47204045	G	A	47204045	2	1	48	1	0	0	0	0	0	0	0	1	11400	1277	45	1		1	PACSIN3	11	47204045	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		47204045	87802471	41	6472										
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	11	17	1	0	rs4014596		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																																	1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	81622			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	UNC93B1	-	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		C	NM_030930		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	70_37	missense	SNP	0.997	T	T	67759316	C	T	67759316	3	4	48	1	0	0	0	0	1	0	0	0	17028	507	18	4	302	4	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	20555271	67759316	67247200	42	6473										
CD163	9332	genome.wustl.edu	37	chr12	7640251	7640251	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	acggggtcttgccattcaccAagcgaatttctgtgtatcct	9	11	3	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:7640251A>C	ENST00000359156.4	-	8	1956	c.1754T>G	c.(1753-1755)tTg>tGg	p.L585W	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.L618W|CD163_ENST00000432237.2_Missense_Mutation_p.L585W|CD163_ENST00000541972.1_Missense_Mutation_p.L573W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	585	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCCATTCACCAAGCGAATTTC	0.493																																																	0													72	73	72					12																	7640251		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1754T>G	12.37:g.7640251A>C	ENSP00000352071:p.Leu585Trp		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L585W	ENST00000359156.4	37	c.1754	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589521	0.46214	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.21	3.99	0.46301	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.56097	D	0.000022	D	0.82287	0.5004	H	0.97491	4.015	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.75693	-0.3229	10	0.87932	D	0	.	10.1968	0.43060	0.8332:0.1668:0.0:0.0	.	618;585;585	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	W	585;573;618;585	ENSP00000352071:L585W;ENSP00000444071:L573W;ENSP00000379863:L618W;ENSP00000403885:L585W	ENSP00000352071:L585W	L	-	2	0	CD163	7531518	0.981000	0.34729	0.985000	0.45067	0.695000	0.40330	7.281000	0.78621	2.094000	0.63399	0.533000	0.62120	TTG	CD163	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	A	NM_004244, NM_203416		7640251	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	0.116	C	C	7640251	A	C	7640251	3	2	48	1	0	0	0	0	1	0	0	0	2972	131	5	5	1752	5	CD163	12	7640251	Missense_Mutation	SNP	A	TCGA-C5-A7UC-01A-11D-A351-09		7640251	126211644	43	6474										
PZP	5858	genome.wustl.edu	37	chr12	9307355	9307355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ataggatgtcatctccacctCagcagagggagcctgggttt	12	10	3	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:9307355C>T	ENST00000261336.2	-	29	3659	c.3631G>A	c.(3631-3633)Gag>Aag	p.E1211K	PZP_ENST00000381997.2_Missense_Mutation_p.E997K	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1211					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATCTCCACCTCAGCAGAGGGA	0.562																																					Melanoma(125;1402 1695 4685 34487 38571)												0													81	78	79					12																	9307355		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3631G>A	12.37:g.9307355C>T	ENSP00000261336:p.Glu1211Lys		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E1211K	ENST00000261336.2	37	c.3631	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229464	0.79688	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.34072	1.38;1.38	3.73	2.83	0.33086	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.218651	0.29932	U	0.010821	T	0.63920	0.2552	M	0.89785	3.06	0.29202	N	0.875122	P;D	0.89917	0.521;1.0	B;D	0.83275	0.158;0.996	T	0.63941	-0.6523	10	0.87932	D	0	.	11.4	0.49864	0.0:0.9065:0.0:0.0935	.	997;1211	P20742-2;P20742	.;PZP_HUMAN	K	1211;997	ENSP00000261336:E1211K;ENSP00000371427:E997K	ENSP00000261336:E1211K	E	-	1	0	PZP	9198622	0.965000	0.33210	0.999000	0.59377	0.970000	0.65996	1.619000	0.36965	0.868000	0.35678	-0.251000	0.11542	GAG	PZP	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.562	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	C	NM_002864		9307355	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9307355	C	T	9307355	3	4	48	1	0	0	0	0	1	0	0	0	12899	835	29	1	849	1	PZP	12	9307355	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	1667104	9307355	124544540	44	6475										
ETV6	2120	genome.wustl.edu	37	chr12	12037483	12037483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ccaaaatattccggatagtgGatcccaacggactggctcga	10	11	0	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:12037483G>C	ENST00000396373.4	+	6	1388	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	372					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGATAGTGGATCCCAACGG	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	0													106	99	101					12																	12037483		2203	4300	6503	SO:0001583	missense	2120			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1114G>C	12.37:g.12037483G>C	ENSP00000379658:p.Asp372His		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.D372H	ENST00000396373.4	37	c.1114	CCDS8643.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890817	0.91889	.	.	ENSG00000139083	ENST00000396373	T	0.17691	2.26	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59386	-0.7464	10	0.87932	D	0	.	19.2738	0.94021	0.0:0.0:1.0:0.0	.	372	P41212	ETV6_HUMAN	H	372	ENSP00000379658:D372H	ENSP00000379658:D372H	D	+	1	0	ETV6	11928750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	GAT	ETV6	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.463	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	G	NM_001987		12037483	1	no_errors	ENST00000396373	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12037483	G	C	12037483	3	2	48	1	0	0	0	0	1	0	0	0	5295	1174	41	1	1136	1	ETV6	12	12037483	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	2730128	12037483	121814412	45	6476										
BICD1	636	genome.wustl.edu	37	chr12	32520654	32520654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	cacagtgctcacaactagccGggaggcaagactgcccaact	10	14	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:32520654G>A	ENST00000281474.5	+	9	2918	c.2815G>A	c.(2815-2817)Ggg>Agg	p.G939R	BICD1_ENST00000548411.1_3'UTR	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	939					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACAACTAGCCGGGAGGCAAGA	0.512																																																	0													119	103	108					12																	32520654		2203	4300	6503	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2815G>A	12.37:g.32520654G>A	ENSP00000281474:p.Gly939Arg		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like	p.G939R	ENST00000281474.5	37	c.2815	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220719	0.22457	.	.	ENSG00000151746	ENST00000281474	T	0.39406	1.08	5.25	1.85	0.25348	.	0.305106	0.23807	N	0.044365	T	0.17023	0.0409	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05801	-1.0863	10	0.13853	T	0.58	.	4.763	0.13116	0.2523:0.3348:0.4129:0.0	.	939	Q96G01	BICD1_HUMAN	R	939	ENSP00000281474:G939R	ENSP00000281474:G939R	G	+	1	0	BICD1	32411921	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.165000	0.31822	0.563000	0.29222	0.591000	0.81541	GGG	BICD1	-	NULL		0.512	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	G	NM_001714		32520654	1	no_errors	ENST00000281474	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32520654	G	A	32520654	3	1	48	1	0	0	0	0	1	0	0	0	1429	1116	39	2	2849	2	BICD1	12	32520654	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	20483171	32520654	101331241	46	6477										
B4GALNT1	2583	genome.wustl.edu	37	chr12	58020692	58020692	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ttggatgcatgatccaccacGacgtcggagcaggagccaac	12	12	0	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:58020692G>A	ENST00000341156.4	-	11	2021	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	B4GALNT1_ENST00000418555.2_Silent_p.V424V	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	479					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GATCCACCACGACGTCGGAGC	0.577																																																	0													83	65	71					12																	58020692		2203	4300	6503	SO:0001819	synonymous_variant	2583			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1437C>T	12.37:g.58020692G>A			B4DE26|Q8N636	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.V479	ENST00000341156.4	37	c.1437	CCDS8950.1	12																																																																																			B4GALNT1	-	pirsf_GM2_synthase		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	G	NM_001478		58020692	-1	no_errors	ENST00000341156	ensembl	human	known	70_37	silent	SNP	0.025	A	A	58020692	G	A	58020692	2	1	48	1	0	0	0	0	0	0	0	1	1267	1045	37	1		1	B4GALNT1	12	58020692	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	25500038	58020692	75831203	47	6478										
CDK17	5128	genome.wustl.edu	37	chr12	96717761	96717761	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ttctgggcattgccatgaagGagccaaggctccctccaata	10	12	1	1	rs376992444		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:96717761G>C	ENST00000261211.3	-	3	851	c.248C>G	c.(247-249)tCc>tGc	p.S83C	CDK17_ENST00000542666.1_Missense_Mutation_p.S30C|CDK17_ENST00000543119.2_Missense_Mutation_p.S83C	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	83					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.S83F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGCCATGAAGGAGCCAAGGCT	0.443																																																	1	Substitution - Missense(1)	skin(1)						G	CYS/SER,CYS/SER	0,4406		0,0,2203	76	71	73		248,248	5.7	1	12		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDK17	NM_002595.4,NM_001170464.2	112,112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	83/524,83/524	96717761	1,13005	2203	4300	6503	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.248C>G	12.37:g.96717761G>C	ENSP00000261211:p.Ser83Cys		A8K1U6|B2RCQ2|Q8NEB8	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.S83C	ENST00000261211.3	37	c.248	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659234	0.67586	0.0	1.16E-4	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T;T	0.71222	-0.52;-0.53;-0.55;0.76;0.74;0.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	L	0.56769	1.78	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.13407	0.009;0.0	T	0.65928	-0.6049	10	0.59425	D	0.04	-8.7223	20.3236	0.98685	0.0:0.0:1.0:0.0	.	83;83	A8K1U6;Q00537	.;CDK17_HUMAN	C	83;83;30;83;83;103;83	ENSP00000261211:S83C;ENSP00000444459:S83C;ENSP00000442926:S30C;ENSP00000450058:S83C;ENSP00000447282:S83C;ENSP00000447441:S103C	ENSP00000261211:S83C	S	-	2	0	CDK17	95241892	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.327000	0.96396	2.876000	0.98609	0.644000	0.83932	TCC	CDK17	-	NULL		0.443	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	G	NM_002595		96717761	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96717761	G	C	96717761	3	2	48	1	0	0	0	0	1	0	0	0	3138	1174	41	1	1421	1	CDK17	12	96717761	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	38697069	96717761	37134134	48	6479										
C12orf51	283450	genome.wustl.edu	37	chr12	112670844	112670844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tccatcttcacaactttctcCatgttggcgccagtaccaag	6	14	3	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:112670844C>T	ENST00000430131.2	-	37	5840	c.4695G>A	c.(4693-4695)atG>atA	p.M1565I	HECTD4_ENST00000377560.5_Missense_Mutation_p.M1815I|HECTD4_ENST00000550722.1_Missense_Mutation_p.M1841I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1565					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAACTTTCTCCATGTTGGCGC	0.458																																																	0													104	94	97					12																	112670844		1928	4154	6082	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4695G>A	12.37:g.112670844C>T	ENSP00000404379:p.Met1565Ile		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.M1815I	ENST00000430131.2	37	c.5445		12	.	.	.	.	.	.	.	.	.	.	C	34	5.343672	0.95807	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54675	0.56;0.57;0.56	5.34	5.34	0.76211	.	.	.	.	.	T	0.52354	0.1729	N	0.24115	0.695	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.57353	-0.7826	9	0.87932	D	0	.	19.4219	0.94725	0.0:1.0:0.0:0.0	.	1565	Q9Y4D8	K0614_HUMAN	I	1815;1565;1841	ENSP00000366783:M1815I;ENSP00000404379:M1565I;ENSP00000449784:M1841I	ENSP00000366783:M1815I	M	-	3	0	C12orf51	111155227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.659000	0.90383	0.655000	0.94253	ATG	HECTD4	-	NULL		0.458	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112670844	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112670844	C	T	112670844	3	4	48	1	0	0	0	0	1	0	0	0	1700	594	21	4	7451	4	C12orf51	12	112670844	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	15953083	112670844	21181051	49	6480			2	31		2	2	21	N	G_C	4.263924e-05
C12orf51	283450	genome.wustl.edu	37	chr12	112670864	112670864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	catgttggcgccagtaccaaGtcggaagggccgtccttctg	13	12	1	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr12:112670864G>T	ENST00000430131.2	-	37	5820	c.4675C>A	c.(4675-4677)Ctt>Att	p.L1559I	HECTD4_ENST00000377560.5_Missense_Mutation_p.L1809I|HECTD4_ENST00000550722.1_Missense_Mutation_p.L1835I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1559					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1809I(1)|p.L1559I(1)									CCAGTACCAAGTCGGAAGGGC	0.498																																																	2	Substitution - Missense(2)	endometrium(2)											87	79	82					12																	112670864		1935	4150	6085	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4675C>A	12.37:g.112670864G>T	ENSP00000404379:p.Leu1559Ile		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L1809I	ENST00000430131.2	37	c.5425		12	.	.	.	.	.	.	.	.	.	.	G	36	5.749202	0.96882	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56776	0.44;0.45;0.44	5.34	5.34	0.76211	.	.	.	.	.	T	0.61060	0.2317	N	0.24115	0.695	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.65425	-0.6171	9	0.87932	D	0	.	19.4219	0.94725	0.0:0.0:1.0:0.0	.	1559	Q9Y4D8	K0614_HUMAN	I	1809;1559;1835	ENSP00000366783:L1809I;ENSP00000404379:L1559I;ENSP00000449784:L1835I	ENSP00000366783:L1809I	L	-	1	0	C12orf51	111155247	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.575000	0.82447	2.659000	0.90383	0.655000	0.94253	CTT	HECTD4	-	NULL		0.498	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112670864	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112670864	G	T	112670864	3	4	48	1	0	0	0	0	1	0	0	0	1700	1029	36	4	7471	4	C12orf51	12	112670864	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	20	112670864	21181031	50	6481			2	31		2	2	21	N	G_C	4.263924e-05
NUBPL	80224	genome.wustl.edu	37	chr14	32068519	32068519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aggccattggtttgctagatGtggatgtgtatggaccttca	13	6	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr14:32068519G>A	ENST00000281081.7	+	4	361	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	NUBPL_ENST00000536705.1_Missense_Mutation_p.V10M	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	106					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TTTGCTAGATGTGGATGTGTA	0.318																																																	0													98	89	92					14																	32068519		1808	4089	5897	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.316G>A	14.37:g.32068519G>A	ENSP00000281081:p.Val106Met		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.V106M	ENST00000281081.7	37	c.316	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158972	0.78226	.	.	ENSG00000151413	ENST00000281081;ENST00000551314;ENST00000536705	T;T;T	0.43688	0.94;0.97;0.94	5.4	5.4	0.78164	.	0.201880	0.51477	D	0.000091	T	0.42154	0.1190	N	0.21097	0.63	0.33240	D	0.557116	B;P	0.40282	0.26;0.711	B;P	0.47528	0.195;0.549	T	0.57545	-0.7793	10	0.87932	D	0	-0.8507	16.946	0.86230	0.0:0.0:1.0:0.0	.	10;106	B4DWB0;Q8TB37	.;NUBPL_HUMAN	M	106;54;10	ENSP00000281081:V106M;ENSP00000447234:V54M;ENSP00000439286:V10M	ENSP00000281081:V106M	V	+	1	0	NUBPL	31138270	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.967000	0.76079	2.553000	0.86117	0.491000	0.48974	GTG	NUBPL	-	pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1		0.318	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32068519	1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32068519	G	A	32068519	3	1	48	1	0	0	0	0	1	0	0	0	10741	1377	48	4	330	4	NUBPL	14	32068519	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		32068519	75281021	51	6482										
KCNK10	54207	genome.wustl.edu	37	chr14	88652178	88652178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	cttgttgatgatgttgtcctCggacgcaccctgcccatgct	10	13	0	2	rs201379405		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr14:88652178C>T	ENST00000340700.5	-	7	1769	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E445K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E445K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	440					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ATGTTGTCCTCGGACGCACCC	0.557																																																	0													112	106	108					14																	88652178		2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1318G>A	14.37:g.88652178C>T	ENSP00000343104:p.Glu440Lys		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.E445K	ENST00000340700.5	37	c.1333	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502559	0.85176	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.94613	-3.45;-3.46;-3.47	5.71	5.71	0.89125	.	0.282689	0.33477	N	0.004865	D	0.96103	0.8730	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.972;0.972;0.972	D	0.95795	0.8828	10	0.51188	T	0.08	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	440;445;445	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	K	440;445;445	ENSP00000343104:E440K;ENSP00000310568:E445K;ENSP00000312811:E445K	ENSP00000310568:E445K	E	-	1	0	KCNK10	87721931	1.000000	0.71417	0.958000	0.39756	0.723000	0.41478	7.480000	0.81109	2.709000	0.92574	0.655000	0.94253	GAG	KCNK10	-	NULL		0.557	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	C	NM_021161		88652178	-1	no_errors	ENST00000312350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88652178	C	T	88652178	3	4	48	1	0	0	0	0	1	0	0	0	8079	893	31	1	302	1	KCNK10	14	88652178	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	56583659	88652178	18697362	52	6483										
IQGAP1	8826	genome.wustl.edu	37	chr15	90996474	90996474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aatacagtgtggaagcaattGagcagttcagttactggtct	11	6	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr15:90996474G>A	ENST00000268182.5	+	13	1561	c.1437G>A	c.(1435-1437)ttG>ttA	p.L479L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	479					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGAAGCAATTGAGCAGTTCAG	0.478																																																	0													214	199	204					15																	90996474		2198	4298	6496	SO:0001819	synonymous_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1437G>A	15.37:g.90996474G>A			A7MBM3	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L479	ENST00000268182.5	37	c.1437	CCDS10362.1	15																																																																																			IQGAP1	-	NULL		0.478	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90996474	1	no_errors	ENST00000268182	ensembl	human	known	70_37	silent	SNP	1.000	A	A	90996474	G	A	90996474	2	1	48	1	0	0	0	0	0	0	0	1	7834	1281	45	1		1	IQGAP1	15	90996474	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		90996474	11534918	53	6484										
CCDC64B	146439	genome.wustl.edu	37	chr16	3078714	3078714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ggcttacttgttcacggcctCgtcccggtctgagagggcac	13	13	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr16:3078714C>T	ENST00000572449.1	-	8	1287	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E409K|CCDC64B_ENST00000573514.1_Missense_Mutation_p.E202K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	409										breast(1)|endometrium(2)|large_intestine(1)	4						TTCACGGCCTCGTCCCGGTCT	0.627																																																	0													37	50	46					16																	3078714		2012	4135	6147	SO:0001583	missense	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1225G>A	16.37:g.3078714C>T	ENSP00000459043:p.Glu409Lys		Q658L9	Missense_Mutation	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.E409K	ENST00000572449.1	37	c.1225	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855219	0.32791	.	.	ENSG00000162069	ENST00000389347	T	0.35605	1.3	4.81	2.8	0.32819	.	0.145050	0.43110	D	0.000606	T	0.34483	0.0899	M	0.70275	2.135	0.09310	N	1	P	0.43287	0.802	B	0.39027	0.288	T	0.25882	-1.0119	10	0.59425	D	0.04	-6.9416	8.0252	0.30434	0.0:0.7486:0.1612:0.0902	.	409	A1A5D9	BICR2_HUMAN	K	409	ENSP00000373998:E409K	ENSP00000373998:E409K	E	-	1	0	CCDC64B	3018715	0.263000	0.24083	0.002000	0.10522	0.812000	0.45895	0.729000	0.26028	0.434000	0.26340	0.561000	0.74099	GAG	CCDC64B	-	NULL		0.627	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	C			3078714	-1	no_errors	ENST00000389347	ensembl	human	known	70_37	missense	SNP	0.009	T	T	3078714	C	T	3078714	3	4	48	1	0	0	0	0	1	0	0	0	2841	893	31	1	313	1	CCDC64B	16	3078714	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		3078714	87276039	54	6485										
USP31	57478	genome.wustl.edu	37	chr16	23098489	23098489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tccaacaacactgaccacacGcaagctgaatggacacacct	6	15	0	2			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr16:23098489G>A	ENST00000219689.7	-	9	1545	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R516C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGACCACACGCAAGCTGAAT	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											57	52	54					16																	23098489		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1546C>T	16.37:g.23098489G>A	ENSP00000219689:p.Arg516Cys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R516C	ENST00000219689.7	37	c.1546	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281888	0.80692	.	.	ENSG00000103404	ENST00000219689	T	0.12361	2.69	5.29	4.33	0.51752	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.069245	0.64402	D	0.000012	T	0.33323	0.0859	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.07501	-1.0769	10	0.72032	D	0.01	-10.0162	15.0649	0.71986	0.0:0.1424:0.8576:0.0	.	516	Q70CQ4	UBP31_HUMAN	C	516	ENSP00000219689:R516C	ENSP00000219689:R516C	R	-	1	0	USP31	23005990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.381000	0.79718	1.218000	0.43458	0.563000	0.77884	CGT	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.393	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23098489	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23098489	G	A	23098489	3	1	48	1	0	0	0	0	1	0	0	0	17093	1087	38	2	2544	2	USP31	16	23098489	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	20019775	23098489	67256264	55	6486										
DHX8	1659	genome.wustl.edu	37	chr17	41585300	41585300	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	caggtcgaacatatccagtgGaaatactgtacacaaaggaa	9	8	0	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr17:41585300G>T	ENST00000262415.3	+	15	2305	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.E745*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	745					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATATCCAGTGGAAATACTGTA	0.433																																					NSCLC(56;1548 1661 49258 49987)												0													105	98	101					17																	41585300		2203	4300	6503	SO:0001587	stop_gained	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2233G>T	17.37:g.41585300G>T	ENSP00000262415:p.Glu745*			Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E745*	ENST00000262415.3	37	c.2233	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	G	40	7.970452	0.98588	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	6.08	6.08	0.98989	.	0.046486	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6603	0.95864	0.0:0.0:1.0:0.0	.	.	.	.	X	745	.	ENSP00000262415:E745X	E	+	1	0	DHX8	38940826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.760000	0.98935	2.894000	0.99253	0.591000	0.81541	GAA	DHX8	-	smart_Helicase_ATP-bd		0.433	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	G			41585300	1	no_errors	ENST00000262415	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41585300	G	T	41585300	4	4	48	1	0	0	0	0	0	1	0	0	4525	1175	41	3	2291	3	DHX8	17	41585300	Nonsense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		41585300	39609910	56	6487										
EVPL	2125	genome.wustl.edu	37	chr17	74006158	74006158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	agatgacggcatcctccccgCggagctgctggatctggatc	13	13	1	2	rs373420968		TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr17:74006158C>T	ENST00000301607.3	-	22	3381	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1065H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1043	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCCTCCCCGCGGAGCTGCTG	0.647																																																	0								C	HIS/ARG	0,4406		0,0,2203	74	79	77		3128	1	0	17		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	EVPL	NM_001988.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1043/2034	74006158	1,13005	2203	4300	6503	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3128G>A	17.37:g.74006158C>T	ENSP00000301607:p.Arg1043His		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1043H	ENST00000301607.3	37	c.3128	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605102	0.28623	0.0	1.16E-4	ENSG00000167880	ENST00000301607	T	0.69175	-0.38	5.34	1.03	0.20045	.	0.573346	0.18780	N	0.131364	T	0.61299	0.2336	M	0.68317	2.08	0.09310	N	1	D;D	0.57899	0.981;0.958	P;B	0.44518	0.452;0.373	T	0.56523	-0.7965	10	0.72032	D	0.01	-2.1761	5.8712	0.18805	0.0:0.5036:0.1271:0.3692	.	1065;1043	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1043	ENSP00000301607:R1043H	ENSP00000301607:R1043H	R	-	2	0	EVPL	71517753	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	0.604000	0.24164	-0.005000	0.14395	0.491000	0.48974	CGC	EVPL	-	NULL		0.647	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	C	NM_001988		74006158	-1	no_errors	ENST00000301607	ensembl	human	known	70_37	missense	SNP	0.001	T	T	74006158	C	T	74006158	3	4	48	1	0	0	0	0	1	0	0	0	5304	768	27	2	2977	2	EVPL	17	74006158	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	32420858	74006158	7189052	57	6488										
SOCS3	9021	genome.wustl.edu	37	chr17	76355089	76355089	+	Missense_Mutation	SNP	C	C	T													0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gttcaccaccagctggtactCgctcttggagctgaaggtct							TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr17:76355089C>T	ENST00000330871.2	-	2	503	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	30	Kinase inhibitory region (KIR).				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGCTGGTACTCGCTCTTGGAG	0.667																																																	0													13	12	12					17																	76355089		2183	4290	6473	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.88G>A	17.37:g.76355089C>T	ENSP00000330341:p.Glu30Lys		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E30K	ENST00000330871.2	37	c.88	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089541	0.55968	.	.	ENSG00000184557	ENST00000330871	T	0.44482	0.92	4.16	4.16	0.48862	SH2 motif (1);	0.123969	0.53938	D	0.000044	T	0.31513	0.0799	L	0.44542	1.39	0.48571	D	0.999676	P	0.45569	0.861	B	0.29353	0.101	T	0.42015	-0.9476	10	0.66056	D	0.02	-18.8506	16.4477	0.83947	0.0:1.0:0.0:0.0	.	30	O14543	SOCS3_HUMAN	K	30	ENSP00000330341:E30K	ENSP00000330341:E30K	E	-	1	0	SOCS3	73866684	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.497000	0.66924	1.858000	0.53909	0.467000	0.42956	GAG	SOCS3	-	NULL		0.667	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76355089	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76355089	C	T	76355089	3	4	48	1	0	0	0	0	1	0	0	0	14945	893	31	1	593	1	SOCS3	17	76355089	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	2348931	76355089	4840121	58	6489	30	2								
SOCS3	9021	genome.wustl.edu	37	chr17	76355093	76355093	+	Missense_Mutation	SNP	C	C	G													0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	accaccagctggtactcgctCttggagctgaaggtcttgag							TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr17:76355093C>G	ENST00000330871.2	-	2	499	c.84G>C	c.(82-84)aaG>aaC	p.K28N	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	28	Kinase inhibitory region (KIR).				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGTACTCGCTCTTGGAGCTGA	0.667																																																	0													12	11	12					17																	76355093		2186	4289	6475	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.84G>C	17.37:g.76355093C>G	ENSP00000330341:p.Lys28Asn		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.K28N	ENST00000330871.2	37	c.84	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230839	0.39399	.	.	ENSG00000184557	ENST00000330871	T	0.48522	0.81	4.16	2.08	0.27032	.	0.310057	0.29480	N	0.012027	T	0.34337	0.0894	L	0.52573	1.65	0.41278	D	0.986893	P	0.48764	0.915	B	0.38428	0.273	T	0.13980	-1.0489	10	0.51188	T	0.08	-14.499	5.8842	0.18872	0.0:0.6641:0.1578:0.1781	.	28	O14543	SOCS3_HUMAN	N	28	ENSP00000330341:K28N	ENSP00000330341:K28N	K	-	3	2	SOCS3	73866688	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	1.245000	0.32790	0.696000	0.31696	0.467000	0.42956	AAG	SOCS3	-	NULL		0.667	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76355093	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76355093	C	G	76355093	3	3	48	1	0	0	0	0	1	0	0	0	14945	912	32	1	597	1	SOCS3	17	76355093	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	4	76355093	4840117	59	6490	30	2								
HCN2	610	genome.wustl.edu	37	chr19	590519	590519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	gccagaaggccgtggagcgcGagcaggagcgcgtcaagtcg	18	11	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr19:590519G>A	ENST00000251287.2	+	1	627	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	192	Involved in subunit assembly. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGAGCGCGAGCAGGAGCG	0.711																																					Melanoma(145;1175 2427 8056 36306)												0													12	15	14					19																	590519		2099	4130	6229	SO:0001583	missense	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.574G>A	19.37:g.590519G>A	ENSP00000251287:p.Glu192Lys		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.E192K	ENST00000251287.2	37	c.574	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	27.7	4.854166	0.91355	.	.	ENSG00000099822	ENST00000251287	D	0.84660	-1.88	2.44	1.16	0.20824	Ion transport N-terminal (1);	.	.	.	.	D	0.91324	0.7264	M	0.90309	3.105	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.88911	0.3359	9	0.23891	T	0.37	.	8.9084	0.35537	0.0:0.0:0.7771:0.2229	.	192	Q9UL51	HCN2_HUMAN	K	192	ENSP00000251287:E192K	ENSP00000251287:E192K	E	+	1	0	HCN2	541519	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.515000	0.67049	1.306000	0.44926	0.282000	0.19409	GAG	HCN2	-	pfam_Ion_trans_N		0.711	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194		590519	1	no_errors	ENST00000251287	ensembl	human	known	70_37	missense	SNP	1.000	A	A	590519	G	A	590519	3	1	48	1	0	0	0	0	1	0	0	0	7017	1059	37	1	576	1	HCN2	19	590519	Missense_Mutation	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09		590519	58538464	60	6491										
SYDE1	85360	genome.wustl.edu	37	chr19	15222460	15222460	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	caggcatcctcaaggattatCttcgagagttgcccacccca	8	14	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr19:15222460C>T	ENST00000342784.2	+	6	1466	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	SYDE1_ENST00000600252.1_Missense_Mutation_p.L136F|SYDE1_ENST00000600440.1_Missense_Mutation_p.L412F	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	479	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CAAGGATTATCTTCGAGAGTT	0.597																																																	0													76	73	74					19																	15222460		2203	4300	6503	SO:0001583	missense	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1435C>T	19.37:g.15222460C>T	ENSP00000341489:p.Leu479Phe		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L479F	ENST00000342784.2	37	c.1435	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773758	0.31411	.	.	ENSG00000105137	ENST00000342784	T	0.60424	0.19	5.44	4.4	0.53042	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.086997	0.47852	N	0.000215	T	0.52468	0.1736	L	0.42632	1.34	0.58432	D	0.999998	P;B;B	0.34892	0.474;0.178;0.261	B;B;B	0.43867	0.434;0.112;0.434	T	0.44574	-0.9319	10	0.21014	T	0.42	.	8.5026	0.33168	0.0:0.8242:0.0:0.1758	.	412;412;479	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	F	479	ENSP00000341489:L479F	ENSP00000341489:L479F	L	+	1	0	SYDE1	15083460	0.927000	0.31430	0.921000	0.36526	0.428000	0.31595	1.911000	0.39937	1.299000	0.44798	0.655000	0.94253	CTT	SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.597	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15222460	1	no_errors	ENST00000342784	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15222460	C	T	15222460	3	4	48	1	0	0	0	0	1	0	0	0	15465	913	32	1	1457	1	SYDE1	19	15222460	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	14631941	15222460	43906523	61	6492										
RAB8A	4218	genome.wustl.edu	37	chr19	16238844	16238844	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	cctctctcacagctggccctCgactatggaatcaagttcat	7	14	4	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr19:16238844C>G	ENST00000300935.3	+	6	696	c.423C>G	c.(421-423)ctC>ctG	p.L141L	RAB8A_ENST00000586682.1_Silent_p.L141L|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	141					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						AGCTGGCCCTCGACTATGGAA	0.612																																																	0													84	68	73					19																	16238844		2203	4300	6503	SO:0001819	synonymous_variant	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.423C>G	19.37:g.16238844C>G			B4DEK7|P24407|Q6FHV5	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L141	ENST00000300935.3	37	c.423	CCDS12339.1	19																																																																																			RAB8A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.612	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	HGNC	protein_coding	OTTHUMT00000460186.1	C	NM_005370		16238844	1	no_errors	ENST00000300935	ensembl	human	known	70_37	silent	SNP	0.861	G	G	16238844	C	G	16238844	2	3	48	1	0	0	0	0	0	0	0	1	12986	871	31	1		1	RAB8A	19	16238844	Silent	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	1016384	16238844	42890139	62	6493										
KIRREL2	84063	genome.wustl.edu	37	chr19	36357423	36357423	+	3'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	caatggaagagtcctgggatCtccaacttgccataatggat	10	9	1	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr19:36357423C>T	ENST00000360202.5	+	0	2354				APLP1_ENST00000221891.4_5'Flank|APLP1_ENST00000586861.1_5'Flank|APLP1_ENST00000537454.2_5'Flank|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000262625.7_Silent_p.I629I|KIRREL2_ENST00000347900.6_Silent_p.I579I	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCTGGGATCTCCAACTTGC	0.532																																																	0													96	99	98					19																	36357423		2203	4300	6503	SO:0001624	3_prime_UTR_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.*29C>T	19.37:g.36357423C>T			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I629	ENST00000360202.5	37	c.1887	CCDS12481.1	19																																																																																			KIRREL2	-	NULL		0.532	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	C	NM_032123		36357423	1	no_errors	ENST00000262625	ensembl	human	known	70_37	silent	SNP	0.011	T	T	36357423	C	T	36357423	1	4	48	0	1	0	0	0	0	0	0	0	8345	903	32	1		1	KIRREL2	19	36357423	3'UTR	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	20118579	36357423	22771560	63	6494										
ZNF582	147948	genome.wustl.edu	37	chr19	56901419	56901419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	tccaccatccagggctctttGccttgctctaggaaggagat	10	12	2	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr19:56901419G>A	ENST00000301310.4	-	4	341	c.183C>T	c.(181-183)ggC>ggT	p.G61G	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Silent_p.G61G	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AGGGCTCTTTGCCTTGCTCTA	0.552																																					Ovarian(183;1887 2032 4349 30507 51343)												0													104	95	98					19																	56901419		2203	4300	6503	SO:0001819	synonymous_variant	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.183C>T	19.37:g.56901419G>A			B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G61	ENST00000301310.4	37	c.183	CCDS33121.1	19																																																																																			ZNF582	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.552	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	G	NM_144690		56901419	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56901419	G	A	56901419	2	1	48	1	0	0	0	0	0	0	0	1	18044	1306	46	4		4	ZNF582	19	56901419	Silent	SNP	G	TCGA-C5-A7UC-01A-11D-A351-09	20543996	56901419	2227564	64	6495										
MYH7B	57644	genome.wustl.edu	37	chr20	33587058	33587058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aacgggcactggaggaacggCggcggcaggaggaggagatg	21	7	0	1			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chr20:33587058C>T	ENST00000262873.7	+	34	4608	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1464						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGGAACGGCGGCGGCAGGA	0.682																																																	0													20	38	32					20																	33587058		2147	4249	6396	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4516C>T	20.37:g.33587058C>T	ENSP00000262873:p.Arg1506Trp		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1506W	ENST00000262873.7	37	c.4516	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065350	0.76187	.	.	ENSG00000078814	ENST00000262873	T	0.80214	-1.35	4.69	-1.83	0.07833	Myosin tail (1);	0.000000	0.32301	N	0.006296	D	0.86100	0.5852	M	0.69823	2.125	0.37070	D	0.89848	D	0.76494	0.999	D	0.63381	0.914	D	0.88579	0.3135	10	0.87932	D	0	.	16.0669	0.80891	0.8169:0.1831:0.0:0.0	.	1464	A7E2Y1	MYH7B_HUMAN	W	1506	ENSP00000262873:R1506W	ENSP00000262873:R1506W	R	+	1	2	MYH7B	33050719	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.186000	0.50942	-0.090000	0.12462	0.561000	0.74099	CGG	MYH7B	-	pfam_Myosin_tail		0.682	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	C	NM_020884		33587058	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	33587058	C	T	33587058	3	4	48	1	0	0	0	0	1	0	0	0	10063	759	27	2	4650	2	MYH7B	20	33587058	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		33587058	29438462	65	6496										
DDX26B	203522	genome.wustl.edu	37	chrX	134711302	134711302	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	aaagggaccaccctcagcctCgtggttcccatcttatccaa	7	15	2	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chrX:134711302C>G	ENST00000370752.4	+	14	2292	c.1958C>G	c.(1957-1959)tCg>tGg	p.S653W	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	653										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCAGCCTCGTGGTTCCCA	0.483																																																	0													193	154	167					X																	134711302		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1958C>G	X.37:g.134711302C>G	ENSP00000359788:p.Ser653Trp		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.S653W	ENST00000370752.4	37	c.1958	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975682	0.53720	.	.	ENSG00000165359	ENST00000370752	T	0.33216	1.42	5.23	2.43	0.29744	.	0.525100	0.21139	N	0.079509	T	0.36991	0.0987	M	0.64997	1.995	0.42735	D	0.993722	D;D	0.59767	0.986;0.963	P;P	0.53593	0.59;0.73	T	0.09465	-1.0673	10	0.37606	T	0.19	-0.2647	5.5256	0.16957	0.0:0.6153:0.1391:0.2456	.	653;653	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	W	653	ENSP00000359788:S653W	ENSP00000359788:S653W	S	+	2	0	DDX26B	134538968	0.206000	0.23470	0.996000	0.52242	0.984000	0.73092	0.890000	0.28295	0.137000	0.18759	-0.914000	0.02751	TCG	DDX26B	-	NULL		0.483	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	C	NM_182540		134711302	1	no_errors	ENST00000370752	ensembl	human	known	70_37	missense	SNP	0.995	G	G	134711302	C	G	134711302	3	3	48	1	0	0	0	0	1	0	0	0	4358	893	31	1	2012	1	DDX26B	23	134711302	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09		134711302	20559258	66	6497										
BRS3	680	genome.wustl.edu	37	chrX	135574302	135574302	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.378787878787879	25	2.55201279005562e-08	3.5112639553429	4.00284090909091	3.24554668304668	0.25779115895468	0.51558231790936	18	ggttttggctttcagcaattCttgcgtaaacccctttgctc	8	11	2	0			TCGA-C5-A7UC-01A-11D-A351-09	TCGA-C5-A7UC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bb76b8b0-ee5f-4955-9b4c-2f8378a458f2	0a95dc33-f2e6-4723-a85e-87f716883112	g.chrX:135574302C>G	ENST00000370648.3	+	3	1196	c.968C>G	c.(967-969)tCt>tGt	p.S323C		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	323					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTCAGCAATTCTTGCGTAAAC	0.468																																																	0													221	197	205					X																	135574302		2203	4300	6503	SO:0001583	missense	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.968C>G	X.37:g.135574302C>G	ENSP00000359682:p.Ser323Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S323C	ENST00000370648.3	37	c.968	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246861	0.80024	.	.	ENSG00000102239	ENST00000370648	T	0.78003	-1.14	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	M	0.91249	3.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92676	0.6154	10	0.87932	D	0	-15.4372	19.0174	0.92900	0.0:1.0:0.0:0.0	.	323	P32247	BRS3_HUMAN	C	323	ENSP00000359682:S323C	ENSP00000359682:S323C	S	+	2	0	BRS3	135401968	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.439000	0.82584	0.600000	0.82982	TCT	BRS3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.468	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	C	NM_001727		135574302	1	no_errors	ENST00000370648	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135574302	C	G	135574302	3	3	48	1	0	0	0	0	1	0	0	0	1525	913	32	1	978	1	BRS3	23	135574302	Missense_Mutation	SNP	C	TCGA-C5-A7UC-01A-11D-A351-09	863000	135574302	19696258	67	6498										
TAS1R2	80834	genome.wustl.edu	37	chr1	19166295	19166295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgaaggtgcagagggagacgGatgaggtgaaatagaaggtc	18	3	0	6			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:19166295G>T	ENST00000375371.3	-	6	2339	c.2318C>A	c.(2317-2319)tCc>tAc	p.S773Y		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	773					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GAGGGAGACGGATGAGGTGAA	0.572																																																	0													150	112	125					1																	19166295		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2318C>A	1.37:g.19166295G>T	ENSP00000364520:p.Ser773Tyr		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S773Y	ENST00000375371.3	37	c.2318	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	6.108	0.388259	0.11581	.	.	ENSG00000179002	ENST00000375371	D	0.87887	-2.31	5.07	3.15	0.36227	GPCR, family 3, C-terminal (2);	0.139717	0.32935	N	0.005464	D	0.84534	0.5493	M	0.66939	2.045	0.34159	D	0.668445	B	0.17852	0.024	B	0.27608	0.081	T	0.81890	-0.0725	10	0.39692	T	0.17	.	8.7308	0.34498	0.0:0.3131:0.5254:0.1616	.	773	Q8TE23	TS1R2_HUMAN	Y	773	ENSP00000364520:S773Y	ENSP00000364520:S773Y	S	-	2	0	TAS1R2	19038882	0.930000	0.31532	0.358000	0.25811	0.361000	0.29550	1.662000	0.37418	0.510000	0.28216	0.655000	0.94253	TCC	TAS1R2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.572	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19166295	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.917	T	T	19166295	G	T	19166295	3	4	49	1	0	0	0	0	1	0	0	0	15593	1174	41	3	205	3	TAS1R2	1	19166295	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		19166295	230084326	1	6499										
EPS15	2060	genome.wustl.edu	37	chr1	51875362	51875362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctccctttgaacttcatcttGaagatcctaaaatccaagaa	4	11	2	4			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:51875362G>C	ENST00000371733.3	-	14	1216	c.1120C>G	c.(1120-1122)Caa>Gaa	p.Q374E	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.Q374E|EPS15_ENST00000396122.4_Missense_Mutation_p.Q51E	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	374					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTCATCTTGAAGATCCTAA	0.368			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											77	77	77					1																	51875362		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1120C>G	1.37:g.51875362G>C	ENSP00000360798:p.Gln374Glu		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.Q374E	ENST00000371733.3	37	c.1120	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170998	0.78452	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;D;T	0.82619	1.6;-1.63;3.12	5.54	5.54	0.83059	.	0.000000	0.31392	N	0.007724	D	0.90317	0.6971	M	0.67700	2.07	0.80722	D	1	D;D;D	0.76494	0.965;0.999;0.996	P;D;D	0.80764	0.637;0.994;0.99	D	0.88832	0.3306	10	0.38643	T	0.18	.	19.4767	0.94992	0.0:0.0:1.0:0.0	.	374;374;60	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	E	374;374;51	ENSP00000360795:Q374E;ENSP00000360798:Q374E;ENSP00000379428:Q51E	ENSP00000360795:Q374E	Q	-	1	0	EPS15	51647950	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.982000	0.93471	2.601000	0.87937	0.563000	0.77884	CAA	EPS15	-	NULL		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	G	NM_001981		51875362	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51875362	G	C	51875362	3	2	49	1	0	0	0	0	1	0	0	0	5204	1299	45	1	1618	1	EPS15	1	51875362	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	32709067	51875362	197375259	2	6500										
CACHD1	57685	genome.wustl.edu	37	chr1	65117933	65117933	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgaatctggcttacattcttGaagacgtgacgtattaccaa	8	8	2	4			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:65117933G>A	ENST00000371073.2	+	10	1480	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	CACHD1_ENST00000290039.5_Missense_Mutation_p.E443K|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	494	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTACATTCTTGAAGACGTGAC	0.373																																																	0													217	186	196					1																	65117933		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1480G>A	1.37:g.65117933G>A	ENSP00000360113:p.Glu494Lys		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.E494K	ENST00000371073.2	37	c.1480		1	.	.	.	.	.	.	.	.	.	.	G	32	5.106236	0.94292	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22539	1.95;1.96	6.07	5.17	0.71159	Cache (1);	0.042947	0.85682	N	0.000000	T	0.05364	0.0142	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.19386	-1.0307	10	0.12103	T	0.63	-23.7259	15.145	0.72643	0.0671:0.0:0.9329:0.0	.	494	Q5VU97	CAHD1_HUMAN	K	494;443	ENSP00000360113:E494K;ENSP00000290039:E443K	ENSP00000290039:E443K	E	+	1	0	CACHD1	64890521	1.000000	0.71417	0.982000	0.44146	0.924000	0.55760	9.476000	0.97823	1.582000	0.49881	0.655000	0.94253	GAA	CACHD1	-	pfam_Cache_domain		0.373	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		G	NM_020925		65117933	1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65117933	G	A	65117933	3	1	49	1	0	0	0	0	1	0	0	0	2542	1291	45	1	1365	1	CACHD1	1	65117933	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	13242571	65117933	184132688	3	6501										
AK5	26289	genome.wustl.edu	37	chr1	77952004	77952004	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	attttaaaggtttcatggaaGatttgagaaagtgtaaaatt	9	1	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:77952004G>T	ENST00000354567.2	+	10	1377	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	AK5_ENST00000344720.5_Missense_Mutation_p.D346Y	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	372					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTTCATGGAAGATTTGAGAAA	0.308																																																	0													39	41	41					1																	77952004		2200	4299	6499	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1114G>T	1.37:g.77952004G>T	ENSP00000346577:p.Asp372Tyr		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.D372Y	ENST00000354567.2	37	c.1114	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187482	0.38609	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.74947	-0.89;-0.89	4.29	4.29	0.51040	.	0.234455	0.33772	N	0.004579	T	0.46308	0.1386	N	0.19112	0.55	0.80722	D	1	P	0.38565	0.637	B	0.33521	0.165	T	0.61068	-0.7137	10	0.72032	D	0.01	0.0802	12.5368	0.56145	0.0:0.0:1.0:0.0	.	372	Q9Y6K8	KAD5_HUMAN	Y	372;346	ENSP00000346577:D372Y;ENSP00000341430:D346Y	ENSP00000341430:D346Y	D	+	1	0	AK5	77724592	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.795000	0.55499	2.682000	0.91365	0.650000	0.86243	GAT	AK5	-	NULL		0.308	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	G	NM_174858		77952004	1	no_errors	ENST00000354567	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77952004	G	T	77952004	3	4	49	1	0	0	0	0	1	0	0	0	443	942	33	3	1152	3	AK5	1	77952004	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	12834071	77952004	171298617	4	6502										
TTF2	8458	genome.wustl.edu	37	chr1	117617619	117617619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gaatcaagaaccagctctctGgaaacagctcatcaaaggtg	9	10	4	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:117617619G>T	ENST00000369466.4	+	5	457	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	138					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCAGCTCTCTGGAAACAGCTC	0.413																																																	0													72	74	73					1																	117617619		2203	4300	6503	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.413G>T	1.37:g.117617619G>T	ENSP00000358478:p.Trp138Leu		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W138L	ENST00000369466.4	37	c.413	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174825	0.38413	.	.	ENSG00000116830	ENST00000369466	D	0.87571	-2.27	5.59	4.66	0.58398	.	0.225139	0.23180	N	0.051032	D	0.85801	0.5781	M	0.64997	1.995	0.32578	N	0.52892	P;D	0.59357	0.666;0.985	B;P	0.55824	0.162;0.785	D	0.84074	0.0381	10	0.39692	T	0.17	-1.3581	12.0064	0.53261	0.0:0.0:0.8271:0.1729	.	138;138	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	L	138	ENSP00000358478:W138L	ENSP00000358478:W138L	W	+	2	0	TTF2	117419142	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	3.648000	0.54410	1.453000	0.47775	0.557000	0.71058	TGG	TTF2	-	NULL		0.413	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G			117617619	1	no_errors	ENST00000369466	ensembl	human	known	70_37	missense	SNP	0.998	T	T	117617619	G	T	117617619	3	4	49	1	0	0	0	0	1	0	0	0	16750	1357	47	4	431	4	TTF2	1	117617619	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	39665615	117617619	131633002	5	6503										
CELF3	11189	genome.wustl.edu	37	chr1	151681484	151681484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tggggctcactggcagggtcCggctgctgtgaagggtgttg	19	8	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:151681484C>T	ENST00000290583.4	-	5	1269	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	CELF3_ENST00000290585.4_Missense_Mutation_p.R159Q|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|AL589765.1_ENST00000442233.2_5'Flank|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000392706.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	159	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGGCAGGGTCCGGCTGCTGTG	0.677																																																	0													62	70	67					1																	151681484		2203	4300	6503	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.476G>A	1.37:g.151681484C>T	ENSP00000290583:p.Arg159Gln		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R159Q	ENST00000290583.4	37	c.476	CCDS1002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.471|8.471	0.857528|0.857528	0.17106|0.17106	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.16073	.|2.37;2.37	4.08|4.08	4.08|4.08	0.47627|0.47627	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.04686|0.04686	-0.185|-0.185	0.80722|0.80722	D|D	1|1	.|B;B;B;D;P	.|0.89917	.|0.022;0.023;0.28;1.0;0.76	.|B;B;B;D;B	.|0.69654	.|0.008;0.009;0.032;0.965;0.108	T|T	0.19257|0.19257	-1.0311|-1.0311	5|10	.|0.02654	.|T	.|1	-25.0716|-25.0716	9.1029|9.1029	0.36681|0.36681	0.2184:0.7816:0.0:0.0|0.2184:0.7816:0.0:0.0	.|.	.|159;159;158;159;158	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	R|Q	160|159;159;158	.|ENSP00000290585:R159Q;ENSP00000290583:R159Q	.|ENSP00000290583:R159Q	G|R	-|-	1|2	0|0	CELF3|CELF3	149948108|149948108	0.769000|0.769000	0.28531|0.28531	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	1.284000|1.284000	0.33249|0.33249	2.089000|2.089000	0.63090|0.63090	0.442000|0.442000	0.29010|0.29010	GGA|CGG	CELF3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.677	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	C	NM_007185		151681484	-1	no_errors	ENST00000290583	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151681484	C	T	151681484	3	4	49	1	0	0	0	0	1	0	0	0	3222	652	23	2	953	2	CELF3	1	151681484	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	34063865	151681484	97569137	6	6504										
APCS	325	genome.wustl.edu	37	chr1	159558217	159558217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctgaattttggatcaatgggAcacctttggtgaaaaagggt	12	5	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:159558217A>G	ENST00000255040.2	+	2	488	c.391A>G	c.(391-393)Aca>Gca	p.T131A		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	131	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GATCAATGGGACACCTTTGGT	0.483																																																	0													77	77	77					1																	159558217		2203	4300	6503	SO:0001583	missense	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.391A>G	1.37:g.159558217A>G	ENSP00000255040:p.Thr131Ala			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.T131A	ENST00000255040.2	37	c.391	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430881	0.25726	.	.	ENSG00000132703	ENST00000255040	T	0.63096	-0.02	4.14	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.349614	0.28748	N	0.014273	T	0.24851	0.0603	N	0.11201	0.11	0.22253	N	0.999255	B	0.10296	0.003	B	0.15484	0.013	T	0.24119	-1.0169	10	0.72032	D	0.01	-11.8154	11.4351	0.50064	1.0:0.0:0.0:0.0	.	131	P02743	SAMP_HUMAN	A	131	ENSP00000255040:T131A	ENSP00000255040:T131A	T	+	1	0	APCS	157824841	1.000000	0.71417	0.844000	0.33320	0.257000	0.26127	4.932000	0.63476	1.851000	0.53745	0.533000	0.62120	ACA	APCS	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.483	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	A	NM_001639		159558217	1	no_errors	ENST00000255040	ensembl	human	known	70_37	missense	SNP	0.993	G	G	159558217	A	G	159558217	3	3	49	1	0	0	0	0	1	0	0	0	767	275	10	5	397	5	APCS	1	159558217	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	7876733	159558217	89692404	7	6505										
IGSF9	57549	genome.wustl.edu	37	chr1	159900133	159900133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cccaatgcaggagtacccccCggggtgtcctcactgccacc	10	18	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:159900133C>T	ENST00000368094.1	-	15	2107	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	IGSF9_ENST00000361509.3_Missense_Mutation_p.R621Q|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	637	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTACCCCCCGGGGTGTCCT	0.672																																																	0													67	75	72					1																	159900133		2202	4300	6502	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1910G>A	1.37:g.159900133C>T	ENSP00000357073:p.Arg637Gln			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R637Q	ENST00000368094.1	37	c.1910	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	6.823	0.521008	0.13005	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.57436	0.4;0.4	5.3	3.38	0.38709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.222777	0.22378	N	0.060852	T	0.12774	0.0310	N	0.15975	0.35	0.29753	N	0.836188	B	0.31655	0.334	B	0.31812	0.136	T	0.13899	-1.0492	9	.	.	.	-9.9285	5.2217	0.15371	0.1647:0.6634:0.0:0.1718	.	637	Q9P2J2	TUTLA_HUMAN	Q	621;637	ENSP00000355049:R621Q;ENSP00000357073:R637Q	.	R	-	2	0	IGSF9	158166757	0.951000	0.32395	1.000000	0.80357	0.990000	0.78478	1.678000	0.37586	0.573000	0.29400	0.555000	0.69702	CGG	IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	C	NM_020789		159900133	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	0.968	T	T	159900133	C	T	159900133	3	4	49	1	0	0	0	0	1	0	0	0	7625	652	23	2	1657	2	IGSF9	1	159900133	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	341916	159900133	89350488	8	6506										
ADCY10	55811	genome.wustl.edu	37	chr1	167779063	167779063	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cttcttttaactcagaggttGagtaccatgattcctgagag	9	8	2	4			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:167779063G>C	ENST00000367851.4	-	33	4869	c.4685C>G	c.(4684-4686)tCa>tGa	p.S1562*	ADCY10_ENST00000367848.1_Nonsense_Mutation_p.S1470*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.S1409*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1562					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTCAGAGGTTGAGTACCATGA	0.388																																																	0													101	94	96					1																	167779063		2203	4300	6503	SO:0001587	stop_gained	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4685C>G	1.37:g.167779063G>C	ENSP00000356825:p.Ser1562*		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.S1562*	ENST00000367851.4	37	c.4685	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.143664	0.99080	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	5.54	5.54	0.83059	.	0.150158	0.31495	N	0.007543	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.2329	14.9801	0.71306	0.0:0.0:1.0:0.0	.	.	.	.	X	1409;1562;1470	.	ENSP00000356822:S1470X	S	-	2	0	ADCY10	166045687	0.987000	0.35691	0.943000	0.38184	0.056000	0.15407	2.211000	0.42825	2.606000	0.88127	0.655000	0.94253	TCA	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.388	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167779063	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	nonsense	SNP	0.981	C	C	167779063	G	C	167779063	4	2	49	1	0	0	0	0	0	1	0	0	293	1294	45	1	151	1	ADCY10	1	167779063	Nonsense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	7878930	167779063	81471558	9	6507										
CFHR1	3078	genome.wustl.edu	37	chr1	196801126	196801126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tatccaacttgtgcaaaaagAtagaatcaatcataaaatgc	5	7	2	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:196801126A>C	ENST00000320493.5	+	6	1078	c.990A>C	c.(988-990)agA>agC	p.R330S	CFHR1_ENST00000367424.4_Missense_Mutation_p.R271S|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	330					complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTGCAAAAAGATAGAATCAAT	0.323																																																	0													71	72	72					1																	196801126		1873	4115	5988	SO:0001583	missense	3078			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.990A>C	1.37:g.196801126A>C	ENSP00000314299:p.Arg330Ser		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R330S	ENST00000320493.5	37	c.990	CCDS1386.1	1	.	.	.	.	.	.	.	.	.	.	.	8.303	0.820413	0.16678	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.41065	1.01;1.65	2.37	-4.74	0.03249	Complement control module (1);	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	P;P	0.52842	0.911;0.956	B;P	0.46076	0.252;0.503	T	0.09292	-1.0681	9	0.62326	D	0.03	.	0.1082	0.00054	0.3609:0.1917:0.1674:0.2801	.	330;1231	Q03591;A8K5T0	FHR1_HUMAN;.	S	271;330	ENSP00000356394:R271S;ENSP00000314299:R330S	ENSP00000314299:R330S	R	+	3	2	CFHR1	195067749	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.265000	0.08644	-1.680000	0.01450	0.328000	0.21473	AGA	CFHR1	-	superfamily_Complement_control_module		0.323	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR1	HGNC	protein_coding	OTTHUMT00000088251.2	A	NM_002113		196801126	1	no_errors	ENST00000320493	ensembl	human	known	70_37	missense	SNP	0.000	C	C	196801126	A	C	196801126	3	2	49	1	0	0	0	0	1	0	0	0	3289	330	12	5	1012	5	CFHR1	1	196801126	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	29022063	196801126	52449495	10	6508										
PIK3C2B	5287	genome.wustl.edu	37	chr1	204438027	204438027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	agaaatccggcggttcttgcCaggcgtcgcattctttcggt	12	11	2	1	rs573891089		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:204438027C>T	ENST00000367187.3	-	3	1460	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G302S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	302					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGGTTCTTGCCAGGCGTCGCA	0.582													C|||	1	0.000199681	0	0	5008	,	,		17660	0		0	False		,,,				2504	0.001																0													51	59	56					1																	204438027		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.904G>A	1.37:g.204438027C>T	ENSP00000356155:p.Gly302Ser		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.G302S	ENST00000367187.3	37	c.904	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467866	0.26335	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.58940	0.3;0.4	5.54	3.44	0.39384	.	0.306262	0.29900	N	0.010912	T	0.29556	0.0737	N	0.08118	0	0.30283	N	0.791087	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10989	-1.0606	10	0.20519	T	0.43	.	4.3128	0.10979	0.0:0.6191:0.0:0.3809	.	302;302	F5GWN5;O00750	.;P3C2B_HUMAN	S	302	ENSP00000356155:G302S;ENSP00000400561:G302S	ENSP00000356155:G302S	G	-	1	0	PIK3C2B	202704650	0.990000	0.36364	0.943000	0.38184	0.592000	0.36648	2.056000	0.41355	1.338000	0.45544	0.462000	0.41574	GGC	PIK3C2B	-	NULL		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204438027	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	0.983	T	T	204438027	C	T	204438027	3	4	49	1	0	0	0	0	1	0	0	0	11934	594	21	4	4128	4	PIK3C2B	1	204438027	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	7636901	204438027	44812594	11	6509										
CR2	1380	genome.wustl.edu	37	chr1	207648498	207648498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcttcatcatgaatggtagtCgcgtgattaggtgtcatact	11	7	3	2	rs199700397		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:207648498C>T	ENST00000367058.3	+	13	2665	c.2476C>T	c.(2476-2478)Cgc>Tgc	p.R826C	CR2_ENST00000367057.3_Missense_Mutation_p.R885C|CR2_ENST00000458541.2_Missense_Mutation_p.R799C|CR2_ENST00000367059.3_Missense_Mutation_p.R826C	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	826	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAATGGTAGTCGCGTGATTAG	0.408													C|||	1	0.000199681	0	0	5008	,	,		23122	0		0.001	False		,,,				2504	0																0													162	146	151					1																	207648498		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2476C>T	1.37:g.207648498C>T	ENSP00000356025:p.Arg826Cys		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R885C	ENST00000367058.3	37	c.2653	CCDS1478.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.18	2.161059	0.38119	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.69	-1.29	0.09288	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67524	0.2902	L	0.57536	1.79	0.09310	N	0.999999	D;D;D	0.64830	0.991;0.988;0.994	P;P;P	0.59703	0.862;0.677;0.729	T	0.59107	-0.7516	9	0.49607	T	0.09	.	8.5235	0.33291	0.2776:0.3157:0.4068:0.0	.	826;826;885	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	C	826;885;826;799	ENSP00000356025:R826C;ENSP00000356024:R885C;ENSP00000356026:R826C;ENSP00000404222:R799C	ENSP00000356024:R885C	R	+	1	0	CR2	205715121	0.002000	0.14202	0.012000	0.15200	0.424000	0.31475	-0.090000	0.11163	-0.306000	0.08818	0.650000	0.86243	CGC	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	C	NM_001877		207648498	1	no_errors	ENST00000367057	ensembl	human	known	70_37	missense	SNP	0.120	T	T	207648498	C	T	207648498	3	4	49	1	0	0	0	0	1	0	0	0	3847	884	31	1	2707	1	CR2	1	207648498	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	3210471	207648498	41602123	12	6510										
LAMB3	3914	genome.wustl.edu	37	chr1	209791296	209791296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ccgaagggagcggctggtgcCttgcatggtgtcctgagctt	16	10	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:209791296C>T	ENST00000356082.4	-	20	3141	c.3007G>A	c.(3007-3009)Ggc>Agc	p.G1003S	LAMB3_ENST00000367030.3_Missense_Mutation_p.G1003S|LAMB3_ENST00000391911.1_Missense_Mutation_p.G1003S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1003	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGCTGGTGCCTTGCATGGTG	0.592																																																	0													95	86	89					1																	209791296		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3007G>A	1.37:g.209791296C>T	ENSP00000348384:p.Gly1003Ser		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1003S	ENST00000356082.4	37	c.3007	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025075	0.75390	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.21031	2.03;2.03;2.03;2.36	4.47	3.55	0.40652	.	0.198998	0.43110	D	0.000620	T	0.19046	0.0457	L	0.36672	1.1	0.38276	D	0.942291	P	0.48998	0.918	B	0.43916	0.436	T	0.05354	-1.0890	10	0.34782	T	0.22	.	12.3804	0.55303	0.0:0.9155:0.0:0.0845	.	1003	Q13751	LAMB3_HUMAN	S	1003;1003;1003;72	ENSP00000375778:G1003S;ENSP00000348384:G1003S;ENSP00000355997:G1003S;ENSP00000398683:G72S	ENSP00000348384:G1003S	G	-	1	0	LAMB3	207857919	0.994000	0.37717	0.964000	0.40570	0.995000	0.86356	3.210000	0.51129	1.003000	0.39130	0.456000	0.33151	GGC	LAMB3	-	NULL		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209791296	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	0.966	T	T	209791296	C	T	209791296	3	4	49	1	0	0	0	0	1	0	0	0	8632	681	24	4	527	4	LAMB3	1	209791296	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	2142798	209791296	39459325	13	6511										
TRAF3IP3	80342	genome.wustl.edu	37	chr1	209949009	209949009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cagtatgaggctctgaaggaGgactggaggacccttgggac	16	8	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:209949009G>T	ENST00000367024.1	+	11	1497	c.981G>T	c.(979-981)gaG>gaT	p.E327D	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E307D|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E63D|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E63D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E307D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E327D|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E307D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	327						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTCTGAAGGAGGACTGGAGGA	0.617																																																	0													56	56	56					1																	209949009		2203	4300	6503	SO:0001583	missense	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.981G>T	1.37:g.209949009G>T	ENSP00000355991:p.Glu327Asp		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.E327D	ENST00000367024.1	37	c.981	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974575	0.34848	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.18;-1.18;-1.18;-1.18;-1.27;-1.27;-1.18	4.78	1.41	0.22369	.	0.328943	0.27802	N	0.017799	T	0.71921	0.3397	L	0.58101	1.795	0.35386	D	0.790315	B;B;P;P	0.49253	0.1;0.1;0.921;0.454	B;B;P;B	0.45913	0.03;0.03;0.497;0.09	T	0.73953	-0.3820	10	0.59425	D	0.04	-16.5073	4.6884	0.12769	0.348:0.1661:0.4859:0.0	.	327;307;327;307	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	D	307;327;307;327;307;63;63;63	ENSP00000383743:E307D;ENSP00000355992:E327D;ENSP00000355993:E307D;ENSP00000355991:E327D;ENSP00000010338:E307D;ENSP00000355990:E63D;ENSP00000418906:E63D;ENSP00000417417:E63D	ENSP00000010338:E307D	E	+	3	2	TRAF3IP3	208015632	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	0.441000	0.21611	0.449000	0.26747	-0.251000	0.11542	GAG	TRAF3IP3	-	NULL		0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209949009	1	no_errors	ENST00000367024	ensembl	human	known	70_37	missense	SNP	0.997	T	T	209949009	G	T	209949009	3	4	49	1	0	0	0	0	1	0	0	0	16473	991	35	4	1015	4	TRAF3IP3	1	209949009	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	157713	209949009	39301612	14	6512										
DISP1	84976	genome.wustl.edu	37	chr1	223116463	223116463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gccatagcagtcaccaagagTgccatcccgaggctggccct	11	15	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:223116463T>C	ENST00000284476.6	+	2	462	c.298T>C	c.(298-300)Tgc>Cgc	p.C100R	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.C100R	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	100					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCACCAAGAGTGCCATCCCGA	0.527																																																	0													142	124	130					1																	223116463		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.298T>C	1.37:g.223116463T>C	ENSP00000284476:p.Cys100Arg		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.C100R	ENST00000284476.6	37	c.298	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810935	0.32053	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93019	0.7;-3.15	5.47	0.438	0.16560	.	0.445029	0.25132	N	0.032892	D	0.89670	0.6782	L	0.59436	1.845	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.81239	-0.1023	10	0.51188	T	0.08	-6.0688	9.4315	0.38612	0.0:0.2737:0.0:0.7263	.	100	Q96F81	DISP1_HUMAN	R	100	ENSP00000355848:C100R;ENSP00000284476:C100R	ENSP00000284476:C100R	C	+	1	0	DISP1	221183086	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	0.373000	0.20484	-0.171000	0.10797	0.528000	0.53228	TGC	DISP1	-	NULL		0.527	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	T	NM_032890		223116463	1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	C	C	223116463	T	C	223116463	3	2	49	1	0	0	0	0	1	0	0	0	4549	1696	59	5	300	5	DISP1	1	223116463	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	13167454	223116463	26134158	15	6513										
NUP133	55746	genome.wustl.edu	37	chr1	229596401	229596401	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tttcatgtaaccagctgagaTgttcatgagcttgcaaaaaa	8	7	2	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:229596401T>A	ENST00000261396.3	-	20	2892	c.2801A>T	c.(2800-2802)cAt>cTt	p.H934L	NUP133_ENST00000537506.1_Missense_Mutation_p.H918L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	934					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAGCTGAGATGTTCATGAGC	0.368																																																	0													98	100	99					1																	229596401		2203	4300	6503	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2801A>T	1.37:g.229596401T>A	ENSP00000261396:p.His934Leu		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.H934L	ENST00000261396.3	37	c.2801	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749304	0.89753	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.23552	1.93;1.9;1.93	5.64	5.64	0.86602	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.41662	-0.9496	10	0.32370	T	0.25	-18.3548	15.8547	0.78968	0.0:0.0:0.0:1.0	.	934	Q8WUM0	NU133_HUMAN	L	863;934;863;918	ENSP00000261396:H934L;ENSP00000355640:H863L;ENSP00000443496:H918L	ENSP00000261396:H934L	H	-	2	0	NUP133	227663024	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.599000	0.82757	2.148000	0.66965	0.460000	0.39030	CAT	NUP133	-	pfam_Nucleoporin_Nup133/Nup155_C		0.368	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	T	NM_018230		229596401	-1	no_errors	ENST00000261396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	229596401	T	A	229596401	3	1	49	1	0	0	0	0	1	0	0	0	10778	1464	51	5	697	5	NUP133	1	229596401	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	6479938	229596401	19654220	16	6514										
AKT3	10000	genome.wustl.edu	37	chr1	243777040	243777040	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tctggaaggaatatttcaagGacttgaaataaaaaaaagaa	8	3	2	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr1:243777040G>A	ENST00000366539.1	-	8	829	c.629C>T	c.(628-630)tCc>tTc	p.S210F	AKT3_ENST00000263826.5_Splice_Site_p.S210F|AKT3_ENST00000336199.5_Splice_Site_p.S210F|AKT3_ENST00000492957.1_5'UTR|AKT3_ENST00000366540.1_Splice_Site_p.S210F			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATATTTCAAGGACTTGAAATA	0.299																																																	0													39	41	40					1																	243777040		2203	4296	6499	SO:0001630	splice_region_variant	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.628-1C>T	1.37:g.243777040G>A			Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.S210F	ENST00000366539.1	37	c.629	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380949	0.82792	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056888	0.64402	D	0.000001	T	0.29882	0.0747	L	0.43646	1.37	0.80722	D	1	B;P	0.36110	0.259;0.537	B;B	0.39771	0.285;0.309	T	0.04255	-1.0965	10	0.72032	D	0.01	.	17.5625	0.87911	0.0:0.0:1.0:0.0	.	210;210	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	F	210	ENSP00000336943:S210F;ENSP00000355498:S210F;ENSP00000355497:S210F;ENSP00000263826:S210F	ENSP00000263826:S210F	S	-	2	0	AKT3	241843663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.495000	0.90481	2.663000	0.90544	0.557000	0.71058	TCC	AKT3	-	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		0.299	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	G	NM_181690	Missense_Mutation	243777040	-1	no_errors	ENST00000263826	ensembl	human	known	70_37	missense	SNP	1.000	A	A	243777040	G	A	243777040	5	1	49	1	0	0	0	0	0	0	1	0	481	1188	41	1	886	1	AKT3	1	243777040	Splice_Site	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	14180639	243777040	5473581	17	6515										
APOB	338	genome.wustl.edu	37	chr2	21246399	21246399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aggcaaacagaatcttacgtTggctacttccagttttactc	7	10	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:21246399T>C	ENST00000233242.1	-	17	2729	c.2602A>G	c.(2602-2604)Aac>Gac	p.N868D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	868					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCTTACGTTGGCTACTTCC	0.403																																																	0													110	104	106					2																	21246399		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2602A>G	2.37:g.21246399T>C	ENSP00000233242:p.Asn868Asp		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N868D	ENST00000233242.1	37	c.2602	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	6.956	0.546316	0.13312	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14022	2.54	5.35	-1.59	0.08453	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.565142	0.17890	N	0.158558	T	0.07098	0.0180	N	0.25890	0.77	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.36553	-0.9743	10	0.20519	T	0.43	.	6.1393	0.20251	0.0:0.1946:0.2276:0.5779	.	868	P04114	APOB_HUMAN	D	868	ENSP00000233242:N868D	ENSP00000233242:N868D	N	-	1	0	APOB	21099904	0.962000	0.33011	0.000000	0.03702	0.228000	0.25075	1.933000	0.40153	-0.153000	0.11137	0.533000	0.62120	AAC	APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	T			21246399	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	C	C	21246399	T	C	21246399	3	2	49	1	0	0	0	0	1	0	0	0	785	1812	63	5	11141	5	APOB	2	21246399	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09		21246399	221952974	18	6516										
NCOA1	8648	genome.wustl.edu	37	chr2	24916163	24916163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tattgcacggcgattacctcGgcctccagctattacgggtg	11	12	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:24916163G>A	ENST00000406961.1	+	10	1407	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	NCOA1_ENST00000405141.1_Missense_Mutation_p.R252Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.R252Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.R101Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.R252Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.R252Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.R252Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	252					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATTACCTCGGCCTCCAGCT	0.388			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													153	151	151					2																	24916163		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.755G>A	2.37:g.24916163G>A	ENSP00000385216:p.Arg252Gln		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.R252Q	ENST00000406961.1	37	c.755	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736190	0.89482	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01963	4.66;4.66;4.53;4.66;4.66;4.66;4.66	5.85	5.85	0.93711	.	0.057174	0.64402	D	0.000001	T	0.06005	0.0156	N	0.14661	0.345	0.58432	D	0.999999	D;P;P;D	0.89917	1.0;0.656;0.767;0.996	D;B;P;P	0.67900	0.954;0.19;0.476;0.777	T	0.56511	-0.7967	10	0.48119	T	0.1	.	19.7671	0.96349	0.0:0.0:1.0:0.0	.	252;252;252;101	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	Q	252;252;101;252;252;252;252	ENSP00000385216:R252Q;ENSP00000385097:R252Q;ENSP00000385195:R101Q;ENSP00000444039:R252Q;ENSP00000320940:R252Q;ENSP00000288599:R252Q;ENSP00000379197:R252Q	ENSP00000288599:R252Q	R	+	2	0	NCOA1	24769667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.701000	0.68325	2.766000	0.95052	0.650000	0.86243	CGG	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.388	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	G	NM_147223		24916163	1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24916163	G	A	24916163	3	1	49	1	0	0	0	0	1	0	0	0	10252	1116	39	2	777	2	NCOA1	2	24916163	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	3669764	24916163	218283210	19	6517										
C2orf34	79823	genome.wustl.edu	37	chr2	44981216	44981216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgtttctggaccagtacagaGccagccttgttgatgcaata	10	9	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:44981216G>T	ENST00000378494.3	+	9	765	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	241						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						CCAGTACAGAGCCAGCCTTGT	0.408																																																	0													278	280	279					2																	44981216		2203	4300	6503	SO:0001583	missense	79823				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.721G>T	2.37:g.44981216G>T	ENSP00000367755:p.Ala241Ser		Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.A241S	ENST00000378494.3	37	c.721	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764415	0.31228	.	.	ENSG00000143919	ENST00000378494	T	0.06068	3.35	5.79	4.88	0.63580	.	0.149470	0.64402	D	0.000013	T	0.06005	0.0156	N	0.08118	0	0.80722	D	1	P	0.50819	0.939	P	0.51453	0.67	T	0.45833	-0.9234	10	0.06891	T	0.86	-9.6057	16.9648	0.86282	0.0:0.127:0.873:0.0	.	241	Q7Z624	CMKMT_HUMAN	S	241	ENSP00000367755:A241S	ENSP00000367755:A241S	A	+	1	0	CAMKMT	44834720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.733000	0.93635	0.655000	0.94253	GCC	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like		0.408	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	G	NM_024766		44981216	1	no_errors	ENST00000378494	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44981216	G	T	44981216	3	4	49	1	0	0	0	0	1	0	0	0	2168	971	34	4	755	4	C2orf34	2	44981216	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	20065053	44981216	198218157	20	6518										
CD207	50489	genome.wustl.edu	37	chr2	71058944	71058944	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tccccccgctgttttatacaGaaactcctgtaggaaagaca	7	12	0	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:71058944G>A	ENST00000410009.3	-	5	769	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTTTTATACAGAAACTCCTGT	0.532																																																	0													87	88	88					2																	71058944		1938	4146	6084	SO:0001819	synonymous_variant	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.724C>T	2.37:g.71058944G>A				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L242	ENST00000410009.3	37	c.724		2																																																																																			CD207	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.532	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	G	NM_015717		71058944	-1	no_errors	ENST00000410009	ensembl	human	known	70_37	silent	SNP	1.000	A	A	71058944	G	A	71058944	2	1	49	1	0	0	0	0	0	0	0	1	2988	933	33	1		1	CD207	2	71058944	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	26077728	71058944	172140429	21	6519										
CASP8	841	genome.wustl.edu	37	chr2	202136248	202136248	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tcccaccacagggtcatgctCtatcagatttcagaagaagt	8	11	4	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:202136248C>T	ENST00000432109.2	+	4	504	c.315C>T	c.(313-315)ctC>ctT	p.L105L	CASP8_ENST00000392258.3_Silent_p.L105L|CASP8_ENST00000264275.5_Silent_p.L137L|CASP8_ENST00000358485.4_Silent_p.L164L|CASP8_ENST00000323492.7_Silent_p.L105L|CASP8_ENST00000264274.9_Silent_p.L105L|CASP8_ENST00000392259.2_Silent_p.L105L|CASP8_ENST00000392266.3_Silent_p.L105L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	105	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGTCATGCTCTATCAGATTT	0.393										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													123	122	122					2																	202136248		2203	4300	6503	SO:0001819	synonymous_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.315C>T	2.37:g.202136248C>T			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.L164	ENST00000432109.2	37	c.492	CCDS2342.1	2																																																																																			CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202136248	1	no_errors	ENST00000358485	ensembl	human	known	70_37	silent	SNP	0.984	T	T	202136248	C	T	202136248	2	4	49	1	0	0	0	0	0	0	0	1	2682	900	32	1		1	CASP8	2	202136248	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	131077304	202136248	41063125	22	6520			1	32		2	2	12	C		5.400947e-05
CASP8	841	genome.wustl.edu	37	chr2	202136259	202136259	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggtcatgctctatcagatttCagaagaagtgagcagatcag	11	7	5	5			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:202136259C>T	ENST00000432109.2	+	4	515	c.326C>T	c.(325-327)tCa>tTa	p.S109L	CASP8_ENST00000392258.3_Missense_Mutation_p.S109L|CASP8_ENST00000264275.5_Missense_Mutation_p.S141L|CASP8_ENST00000358485.4_Missense_Mutation_p.S168L|CASP8_ENST00000323492.7_Missense_Mutation_p.S109L|CASP8_ENST00000264274.9_Missense_Mutation_p.S109L|CASP8_ENST00000392259.2_Missense_Mutation_p.S109L|CASP8_ENST00000392266.3_Missense_Mutation_p.S109L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	109	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.S141*(4)|p.S168*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATCAGATTTCAGAAGAAGTG	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												6	Substitution - Nonsense(6)	cervix(3)|lung(3)											126	126	126					2																	202136259		2203	4300	6503	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.326C>T	2.37:g.202136259C>T	ENSP00000412523:p.Ser109Leu		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.S168L	ENST00000432109.2	37	c.503	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305746	0.40795	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84800	-1.88;-1.9;-1.9;-1.9;-1.88;-1.9;-1.9;-1.88;-1.9;-1.9;-1.88;-1.9;-1.88;-1.88	4.71	2.91	0.33838	DEATH-like (2);Death effector (3);	0.709600	0.13250	N	0.402162	D	0.91023	0.7176	M	0.87456	2.885	0.30197	N	0.798968	P;D;D;D;D;D;P;D;P;D	0.65815	0.746;0.965;0.991;0.989;0.995;0.965;0.928;0.972;0.84;0.98	P;P;D;P;D;P;P;P;P;P	0.64506	0.557;0.814;0.92;0.869;0.926;0.814;0.862;0.844;0.713;0.814	D	0.84421	0.0571	10	0.41790	T	0.15	.	6.9251	0.24410	0.0:0.7193:0.154:0.1267	.	109;109;109;109;109;168;109;109;141;109	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	L	109;109;109;109;109;141;6;109;109;109;168;109;109;109;109	ENSP00000376091:S109L;ENSP00000264274:S109L;ENSP00000376088:S109L;ENSP00000376094:S109L;ENSP00000412523:S109L;ENSP00000264275:S141L;ENSP00000391709:S6L;ENSP00000396869:S109L;ENSP00000376087:S109L;ENSP00000388306:S109L;ENSP00000351273:S168L;ENSP00000397528:S109L;ENSP00000325722:S109L;ENSP00000390641:S109L	ENSP00000264274:S109L	S	+	2	0	CASP8	201844504	0.999000	0.42202	0.995000	0.50966	0.028000	0.11728	2.426000	0.44731	0.586000	0.29626	0.563000	0.77884	TCA	CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202136259	1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	0.992	T	T	202136259	C	T	202136259	3	4	49	1	0	0	0	0	1	0	0	0	2682	838	29	1	613	1	CASP8	2	202136259	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	11	202136259	41063114	23	6521			1	32		2	2	12	C		5.400947e-05
CPO	130749	genome.wustl.edu	37	chr2	207804333	207804333	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgtgtggcagaatgaagcctCtgcttgaaaccctttatctt	9	9	2	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr2:207804333C>T	ENST00000272852.3	+	1	56	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	4						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AATGAAGCCTCTGCTTGAAAC	0.453																																																	0													178	174	176					2																	207804333		2203	4300	6503	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.10C>T	2.37:g.207804333C>T			Q2M277|Q7RTW7	Silent	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.L4	ENST00000272852.3	37	c.10	CCDS2372.1	2																																																																																			CPO	-	NULL		0.453	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	C	NM_173077		207804333	1	no_errors	ENST00000272852	ensembl	human	known	70_37	silent	SNP	0.011	T	T	207804333	C	T	207804333	2	4	49	1	0	0	0	0	0	0	0	1	3825	912	32	1		1	CPO	2	207804333	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	5668074	207804333	35395040	24	6522										
CCBP2	1238	genome.wustl.edu	37	chr3	42906932	42906932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cttttcccccatcctgtatgCcttctccagtcaccgcttcc	4	19	2	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:42906932C>T	ENST00000422265.1	+	3	1113	c.938C>T	c.(937-939)gCc>gTc	p.A313V	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.A313V|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.A313V|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	313					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										ATCCTGTATGCCTTCTCCAGT	0.577																																																	0													182	140	154					3																	42906932		2203	4300	6503	SO:0001583	missense	1238			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.938C>T	3.37:g.42906932C>T	ENSP00000416996:p.Ala313Val		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.A313V	ENST00000422265.1	37	c.938	CCDS2706.1	3	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158710	0.38119	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.38560	1.13;1.13;1.13	4.96	3.87	0.44632	.	0.000000	0.45126	D	0.000392	T	0.41743	0.1172	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.58820	0.846	T	0.16988	-1.0384	9	.	.	.	.	12.9537	0.58415	0.0:0.9036:0.0:0.0964	.	313	O00590	CCBP2_HUMAN	V	313	ENSP00000396150:A313V;ENSP00000416996:A313V;ENSP00000273145:A313V	.	A	+	2	0	CCBP2	42881936	0.050000	0.20438	0.989000	0.46669	0.389000	0.30415	1.012000	0.29924	2.302000	0.77476	0.655000	0.94253	GCC	CCBP2	-	prints_GPCR_Rhodpsn		0.577	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	C	NM_001296		42906932	1	no_errors	ENST00000273145	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42906932	C	T	42906932	3	4	49	1	0	0	0	0	1	0	0	0	2739	739	26	4	940	4	CCBP2	3	42906932	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		42906932	155115498	25	6523										
QRICH1	54870	genome.wustl.edu	37	chr3	49094619	49094619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gagccactgacgtgaactgcGttgtaggcttcctggggaat	14	9	0	2	rs558954411		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:49094619G>A	ENST00000395443.2	-	3	1486	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Silent_p.N338N|QRICH1_ENST00000357496.2_Silent_p.N338N	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	338	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTGAACTGCGTTGTAGGCTT	0.567													G|||	1	0.000199681	0	0	5008	,	,		22150	0.001		0	False		,,,				2504	0																0													68	68	68					3																	49094619		2203	4300	6503	SO:0001819	synonymous_variant	54870				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1014C>T	3.37:g.49094619G>A			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	pfam_DUF3504,superfamily_DEATH-like	p.N338	ENST00000395443.2	37	c.1014	CCDS2787.1	3																																																																																			QRICH1	-	NULL		0.567	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1	G	NM_017730		49094619	-1	no_errors	ENST00000357496	ensembl	human	known	70_37	silent	SNP	0.828	A	A	49094619	G	A	49094619	2	1	49	1	0	0	0	0	0	0	0	1	12909	1136	40	2		2	QRICH1	3	49094619	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	6187687	49094619	148927811	26	6524										
GRM2	2912	genome.wustl.edu	37	chr3	51746865	51746865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cacccgttctgaggatgcccGggagctgcttgctgccagcc	13	15	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:51746865G>T	ENST00000395052.3	+	3	1061	c.827G>T	c.(826-828)cGg>cTg	p.R276L	GRM2_ENST00000442933.2_Missense_Mutation_p.R276L|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	276					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGGATGCCCGGGAGCTGCTT	0.677																																																	0													27	28	28					3																	51746865		2202	4291	6493	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.827G>T	3.37:g.51746865G>T	ENSP00000378492:p.Arg276Leu		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R276L	ENST00000395052.3	37	c.827	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	g	25.8	4.676279	0.88445	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.85171	-1.95;-1.95	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	2.444140	0.01830	N	0.034636	D	0.94135	0.8119	M	0.78801	2.425	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	T	0.83261	-0.0048	10	0.87932	D	0	.	19.2131	0.93765	0.0:0.0:1.0:0.0	.	276	Q14416	GRM2_HUMAN	L	276	ENSP00000378492:R276L;ENSP00000408906:R276L	ENSP00000296479:R276L	R	+	2	0	GRM2	51721905	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.046000	0.89438	2.633000	0.89246	0.645000	0.84053	CGG	GRM2	-	pfam_ANF_lig-bd_rcpt		0.677	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	G			51746865	1	no_errors	ENST00000395052	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51746865	G	T	51746865	3	4	49	1	0	0	0	0	1	0	0	0	6817	1116	39	2	833	2	GRM2	3	51746865	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	2652246	51746865	146275565	27	6525										
MINA	84864	genome.wustl.edu	37	chr3	97677937	97677937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggcctgccgatcctttcctcGgcctccacgctgtactctcg	9	18	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:97677937G>A	ENST00000333396.7	-	4	1221	c.639C>T	c.(637-639)gcC>gcT	p.A213A	MINA_ENST00000330299.2_Silent_p.A213A|MINA_ENST00000394198.2_Silent_p.A213A|MINA_ENST00000360258.4_Silent_p.A213A	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCCTTTCCTCGGCCTCCACGC	0.552																																																	0													91	72	78					3																	97677937		2203	4300	6503	SO:0001819	synonymous_variant	84864			AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.639C>T	3.37:g.97677937G>A				Silent	SNP	pfam_JmjC_dom,pfscan_JmjC_dom	p.A213	ENST00000333396.7	37	c.639	CCDS43114.1	3																																																																																			MINA	-	pfam_JmjC_dom,pfscan_JmjC_dom		0.552	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MINA	HGNC	protein_coding	OTTHUMT00000359244.3	G	NM_032778		97677937	-1	no_errors	ENST00000333396	ensembl	human	known	70_37	silent	SNP	0.001	A	A	97677937	G	A	97677937	2	1	49	1	0	0	0	0	0	0	0	1	9609	1103	39	2		2	MINA	3	97677937	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	45931072	97677937	100344493	28	6526										
ATR	545	genome.wustl.edu	37	chr3	142272219	142272219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aagtgtaagagtgcaaatggTaccaaatctccttttgcggc	10	8	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:142272219T>C	ENST00000350721.4	-	13	2776	c.2655A>G	c.(2653-2655)gtA>gtG	p.V885V	ATR_ENST00000383101.3_Silent_p.V821V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	885					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGCAAATGGTACCAAATCTC	0.383								Other conserved DNA damage response genes																																									0													61	60	60					3																	142272219		2203	4300	6503	SO:0001819	synonymous_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2655A>G	3.37:g.142272219T>C			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.V885	ENST00000350721.4	37	c.2655	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	T	NM_001184		142272219	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	silent	SNP	1.000	C	C	142272219	T	C	142272219	2	2	49	1	0	0	0	0	0	0	0	1	1205	1625	57	5		5	ATR	3	142272219	Silent	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	44594282	142272219	55750211	29	6527										
SI	6476	genome.wustl.edu	37	chr3	164697172	164697172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atgaccagttgatttctattGgttcttctagagtaacattg	8	6	3	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:164697172G>T	ENST00000264382.3	-	48	5524	c.5462C>A	c.(5461-5463)cCa>cAa	p.P1821Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1821	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATTTCTATTGGTTCTTCTAG	0.303										HNSCC(35;0.089)																																							0													175	171	172					3																	164697172		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5462C>A	3.37:g.164697172G>T	ENSP00000264382:p.Pro1821Gln		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.P1821Q	ENST00000264382.3	37	c.5462	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	2.833	-0.242170	0.05906	.	.	ENSG00000090402	ENST00000264382	D	0.88354	-2.37	4.34	3.39	0.38822	.	7.741150	0.00531	N	0.000203	D	0.83862	0.5346	L	0.38649	1.16	0.29672	N	0.842403	B	0.24618	0.107	B	0.22386	0.039	T	0.68364	-0.5428	10	0.11485	T	0.65	.	8.9343	0.35691	0.0:0.0:0.7783:0.2217	.	1821	P14410	SUIS_HUMAN	Q	1821	ENSP00000264382:P1821Q	ENSP00000264382:P1821Q	P	-	2	0	SI	166179866	1.000000	0.71417	0.716000	0.30569	0.033000	0.12548	2.474000	0.45154	2.406000	0.81754	0.585000	0.79938	CCA	SI	-	NULL		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164697172	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.948	T	T	164697172	G	T	164697172	3	4	49	1	0	0	0	0	1	0	0	0	14327	1348	47	4	25	4	SI	3	164697172	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	22424953	164697172	33325258	30	6528										
SLC7A14	57709	genome.wustl.edu	37	chr3	170204151	170204151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gaagcatgttgctgctccttGcagcacctgtgtggatgatg	13	9	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:170204151G>T	ENST00000231706.5	-	5	1081	c.766C>A	c.(766-768)Caa>Aaa	p.Q256K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	256					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTGCTCCTTGCAGCACCTGT	0.502																																																	0													266	208	228					3																	170204151		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.766C>A	3.37:g.170204151G>T	ENSP00000231706:p.Gln256Lys		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.Q256K	ENST00000231706.5	37	c.766	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922412	0.52653	.	.	ENSG00000013293	ENST00000231706	D	0.89617	-2.54	5.95	5.95	0.96441	Amino acid permease domain (1);	0.202806	0.53938	N	0.000057	T	0.80025	0.4548	N	0.16368	0.405	0.40799	D	0.983321	B	0.02656	0.0	B	0.08055	0.003	T	0.73968	-0.3815	10	0.17369	T	0.5	.	14.2224	0.65836	0.0:0.0:0.7523:0.2477	.	256	Q8TBB6	S7A14_HUMAN	K	256	ENSP00000231706:Q256K	ENSP00000231706:Q256K	Q	-	1	0	SLC7A14	171686845	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.338000	0.52128	2.822000	0.97130	0.563000	0.77884	CAA	SLC7A14	-	pfam_AA-permease_dom		0.502	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	G	NM_020949		170204151	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170204151	G	T	170204151	3	4	49	1	0	0	0	0	1	0	0	0	14726	1328	46	4	1565	4	SLC7A14	3	170204151	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	5506979	170204151	27818279	31	6529										
FAM131A	131408	genome.wustl.edu	37	chr3	184059910	184059910	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctaccgccatggcccagggcCgagtggctcacctcattgag	12	15	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr3:184059910C>G	ENST00000310585.4	+	1	1653	c.289C>G	c.(289-291)Cga>Gga	p.R97G	FAM131A_ENST00000450976.1_Missense_Mutation_p.R43G|FAM131A_ENST00000418281.1_Missense_Mutation_p.R5G|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Missense_Mutation_p.R43G|FAM131A_ENST00000340957.5_Missense_Mutation_p.R43G|FAM131A_ENST00000383847.2_Missense_Mutation_p.R128G			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	97						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCCAGGGCCGAGTGGCTCA	0.602																																																	0													137	132	134					3																	184059910		2203	4300	6503	SO:0001583	missense	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.289C>G	3.37:g.184059910C>G	ENSP00000310135:p.Arg97Gly		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.R128G	ENST00000310585.4	37	c.382		3	.	.	.	.	.	.	.	.	.	.	c	19.89	3.910414	0.72983	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000433578;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.69358	2.11	0.50039	D	0.999845	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.64884	-0.6302	10	0.87932	D	0	-16.5193	13.8624	0.63569	0.1534:0.8466:0.0:0.0	.	97;128;5	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	G	43;5;43;43;43;128;43;97	ENSP00000388551:R43G;ENSP00000414050:R5G;ENSP00000340974:R43G;ENSP00000399875:R43G;ENSP00000414913:R43G;ENSP00000373360:R128G;ENSP00000390588:R43G;ENSP00000310135:R97G	ENSP00000310135:R97G	R	+	1	2	FAM131A	185542604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.557000	0.23454	2.590000	0.87494	0.655000	0.94253	CGA	FAM131A	-	NULL		0.602	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	C	NM_144635		184059910	1	no_errors	ENST00000383847	ensembl	human	known	70_37	missense	SNP	1.000	G	G	184059910	C	G	184059910	3	3	49	1	0	0	0	0	1	0	0	0	5454	644	23	2	396	2	FAM131A	3	184059910	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	13855759	184059910	13962520	32	6530										
UGT2B10	7365	genome.wustl.edu	37	chr4	69692191	69692191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tcaatactcgactgtacaagTggataccccagaatgacctt	7	11	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:69692191T>C	ENST00000265403.7	+	4	1090	c.1063T>C	c.(1063-1065)Tgg>Cgg	p.W355R	UGT2B10_ENST00000458688.2_Missense_Mutation_p.W271R	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	355					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACTGTACAAGTGGATACCCCA	0.398																																					Melanoma(133;755 1763 25578 26334 46021)												0													142	134	137					4																	69692191		2203	4300	6503	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1063T>C	4.37:g.69692191T>C	ENSP00000265403:p.Trp355Arg		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.W355R	ENST00000265403.7	37	c.1063		4	.	.	.	.	.	.	.	.	.	.	t	10.97	1.501063	0.26861	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.80304	-1.36;-1.36	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000002	D	0.91129	0.7207	H	0.96547	3.84	0.31203	N	0.699504	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88356	0.2984	10	0.87932	D	0	.	7.8245	0.29307	0.0:0.0:0.0:1.0	.	271;355	B4DPP1;P36537	.;UDB10_HUMAN	R	355;271	ENSP00000265403:W355R;ENSP00000413420:W271R	ENSP00000265403:W355R	W	+	1	0	UGT2B10	69726780	1.000000	0.71417	0.952000	0.39060	0.048000	0.14542	6.218000	0.72224	0.901000	0.36495	0.155000	0.16302	TGG	UGT2B10	-	pfam_UDP_glucos_trans		0.398	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	T	NM_001075		69692191	1	no_errors	ENST00000265403	ensembl	human	known	70_37	missense	SNP	0.999	C	C	69692191	T	C	69692191	3	2	49	1	0	0	0	0	1	0	0	0	16987	1696	59	5	1077	5	UGT2B10	4	69692191	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09		69692191	121462085	33	6531										
MMRN1	22915	genome.wustl.edu	37	chr4	90816728	90816728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gactaccaaaaatcaaatttCgaaacaactagaggaaagta	6	7	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:90816728C>T	ENST00000394980.1	+	2	925	c.606C>T	c.(604-606)ttC>ttT	p.F202F	MMRN1_ENST00000394981.1_Silent_p.F168F|MMRN1_ENST00000264790.2_Silent_p.F202F			Q13201	MMRN1_HUMAN	multimerin 1	202					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATCAAATTTCGAAACAACTA	0.443																																																	0													28	30	29					4																	90816728		2203	4300	6503	SO:0001819	synonymous_variant	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.606C>T	4.37:g.90816728C>T			Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.F202	ENST00000394980.1	37	c.606	CCDS3635.1	4																																																																																			MMRN1	-	NULL		0.443	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	C	NM_007351		90816728	1	no_errors	ENST00000264790	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90816728	C	T	90816728	2	4	49	1	0	0	0	0	0	0	0	1	9693	883	31	1		1	MMRN1	4	90816728	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	21124537	90816728	100337548	34	6532										
PCDH10	57575	genome.wustl.edu	37	chr4	134072049	134072049	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	acaatgtgcccgctttcgacCaacccgtctacactgtgtcc	7	16	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr4:134072049C>G	ENST00000264360.5	+	1	1580	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCTTTCGACCAACCCGTCTA	0.652																																																	0													90	86	87					4																	134072049		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.754C>G	4.37:g.134072049C>G	ENSP00000264360:p.Gln252Glu		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q252E	ENST00000264360.5	37	c.754	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526611	0.44969	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38887	1.11	4.38	4.38	0.52667	Cadherin (3);Cadherin-like (1);	0.000000	0.42420	D	0.000719	T	0.56543	0.1992	L	0.47190	1.495	0.80722	D	1	D;B	0.54964	0.969;0.427	D;B	0.64877	0.93;0.168	T	0.59423	-0.7457	10	0.56958	D	0.05	.	16.7863	0.85575	0.0:1.0:0.0:0.0	.	252;252	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	252	ENSP00000264360:Q252E	ENSP00000264360:Q252E	Q	+	1	0	PCDH10	134291499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.832000	0.69337	2.254000	0.74563	0.505000	0.49811	CAA	PCDH10	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.652	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134072049	1	no_errors	ENST00000264360	ensembl	human	known	70_37	missense	SNP	1.000	G	G	134072049	C	G	134072049	3	3	49	1	0	0	0	0	1	0	0	0	11531	595	21	4	756	4	PCDH10	4	134072049	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	43255321	134072049	57082227	35	6533										
TPPP	11076	genome.wustl.edu	37	chr5	666135	666135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctcgatgagcctgtgcacctCgcgaacggcctcctcgctgc	11	17	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:666135C>T	ENST00000360578.5	-	3	536	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CEP72_ENST00000514507.1_3'UTR|AC026740.1_ENST00000594226.1_5'Flank	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	139					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CTGTGCACCTCGCGAACGGCC	0.657																																																	0													95	86	89					5																	666135		2203	4300	6503	SO:0001583	missense	11076			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.415G>A	5.37:g.666135C>T	ENSP00000353785:p.Glu139Lys			Missense_Mutation	SNP	pfam_P25-alpha	p.E139K	ENST00000360578.5	37	c.415	CCDS3856.1	5	.	.	.	.	.	.	.	.	.	.	c	8.215	0.801089	0.16397	.	.	ENSG00000171368	ENST00000360578	T	0.42131	0.98	4.39	3.51	0.40186	.	0.111748	0.64402	D	0.000012	T	0.28797	0.0714	L	0.51914	1.62	0.58432	D	0.999996	P	0.38565	0.637	B	0.27796	0.083	T	0.15292	-1.0442	10	0.06365	T	0.9	-56.4826	14.2434	0.65971	0.0:0.8494:0.1506:0.0	.	139	O94811	TPPP_HUMAN	K	139	ENSP00000353785:E139K	ENSP00000353785:E139K	E	-	1	0	TPPP	719135	1.000000	0.71417	0.729000	0.30791	0.001000	0.01503	3.443000	0.52907	0.958000	0.37956	-0.314000	0.08810	GAG	TPPP	-	pfam_P25-alpha		0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP	HGNC	protein_coding	OTTHUMT00000253645.3	C	NM_007030		666135	-1	no_errors	ENST00000360578	ensembl	human	known	70_37	missense	SNP	0.997	T	T	666135	C	T	666135	3	4	49	1	0	0	0	0	1	0	0	0	16444	893	31	1	252	1	TPPP	5	666135	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		666135	180249125	36	6534										
EGFLAM	133584	genome.wustl.edu	37	chr5	38407217	38407217	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggctcgcgatgccagtgcacCctgggcaaaggtggtgagag	17	10	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:38407217C>A	ENST00000354891.3	+	8	1462	c.1116C>A	c.(1114-1116)acC>acA	p.T372T	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.T138T|EGFLAM_ENST00000322350.5_Silent_p.T372T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	372	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCCAGTGCACCCTGGGCAAAG	0.547																																					Colon(62;485 1295 3347 17454)												0													45	46	46					5																	38407217		2203	4300	6503	SO:0001819	synonymous_variant	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1116C>A	5.37:g.38407217C>A			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.T372	ENST00000354891.3	37	c.1116	CCDS56363.1	5																																																																																			EGFLAM	-	smart_EG-like_dom,pfscan_EG-like_dom		0.547	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	C	NM_152403		38407217	1	no_errors	ENST00000354891	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38407217	C	A	38407217	2	1	49	1	0	0	0	0	0	0	0	1	4976	610	22	4		4	EGFLAM	5	38407217	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	37741082	38407217	142508043	37	6535										
PIK3R1	5295	genome.wustl.edu	37	chr5	67522531	67522532	+	Missense_Mutation	DNP	GC	GC	AT													0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctgaggggtaccagtacagaGcgctgtatgattataaaaag							TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:67522531_67522532GC>AT	ENST00000521381.1	+	2	644_645	c.28_29GC>AT	c.(28-30)GCg>ATg	p.A10M	PIK3R1_ENST00000521657.1_Missense_Mutation_p.A10M|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A10M|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A10M	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	10	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CCAGTACAGAGCGCTGTATGAT	0.406			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	1	Whole gene deletion(1)	large_intestine(1)																																								SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	Exception_encountered	5.37:g.67522531_67522532delinsAT	ENSP00000428056:p.Ala10Met		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.A10T|p.A10V	ENST00000521381.1	37	c.28|c.29	CCDS3993.1	5																																																																																			PIK3R1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.406	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G|C	NM_181504		67522531|67522532	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	A|T	AT	67522532	GC	AT	67522531	3	1	49	1	0	0	0	0	1	0	0	0	11942	971	34	4	30	4	PIK3R1	5	67522531	Missense_Mutation	DNP	GC	TCGA-C5-A7UE-01A-11D-A33O-09	29115314	67522531	113392729	38	6536										
RASA1	5921	genome.wustl.edu	37	chr5	86672329	86672329	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggtccctgcgtgttcgagcaCgatactctatggaaaaaatc	10	10	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:86672329C>T	ENST00000274376.6	+	16	2695	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.R544*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.R545*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.R534*|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	711					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGTTCGAGCACGATACTCTAT	0.393																																																	0													95	91	93					5																	86672329		2203	4300	6503	SO:0001587	stop_gained	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2131C>T	5.37:g.86672329C>T	ENSP00000274376:p.Arg711*		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.R711*	ENST00000274376.6	37	c.2131	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.310683	0.98754	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.54	5.54	0.83059	.	0.061271	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4767	0.94992	0.0:1.0:0.0:0.0	.	.	.	.	X	711;744;534;544;545	.	ENSP00000274376:R711X	R	+	1	2	RASA1	86708085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.743000	0.62110	2.601000	0.87937	0.563000	0.77884	CGA	RASA1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP		0.393	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86672329	1	no_errors	ENST00000274376	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	86672329	C	T	86672329	4	4	49	1	0	0	0	0	0	1	0	0	13090	528	19	2	2205	2	RASA1	5	86672329	Nonsense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	19149798	86672329	94242931	39	6537										
EFNA5	1946	genome.wustl.edu	37	chr5	106717040	106717040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggtgtttgtgccgcgttctcGccgcgggatggctcggctga	17	11	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:106717040G>A	ENST00000333274.6	-	5	884	c.603C>T	c.(601-603)ggC>ggT	p.G201G	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Silent_p.G174G	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	201					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCGCGTTCTCGCCGCGGGATG	0.493																																																	0													150	132	138					5																	106717040		2202	4300	6502	SO:0001819	synonymous_variant	1946			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.603C>T	5.37:g.106717040G>A				Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.G201	ENST00000333274.6	37	c.603	CCDS4097.1	5																																																																																			EFNA5	-	NULL		0.493	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	G	NM_001962		106717040	-1	no_errors	ENST00000333274	ensembl	human	known	70_37	silent	SNP	0.704	A	A	106717040	G	A	106717040	2	1	49	1	0	0	0	0	0	0	0	1	4964	1074	38	2		2	EFNA5	5	106717040	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	20044711	106717040	74198220	40	6538										
PCDHB6	56130	genome.wustl.edu	37	chr5	140531422	140531422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctgcagtctttcgagttccgCgtgggcgccacagaccgcgg	14	14	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:140531422C>T	ENST00000231136.1	+	1	1584	c.1584C>T	c.(1582-1584)cgC>cgT	p.R528R	PCDHB6_ENST00000543635.1_Silent_p.R392R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGCGTGGGCGCCA	0.657																																																	0													67	73	71					5																	140531422		2202	4300	6502	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1584C>T	5.37:g.140531422C>T			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R528	ENST00000231136.1	37	c.1584	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140531422	1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.119	T	T	140531422	C	T	140531422	2	4	49	1	0	0	0	0	0	0	0	1	11570	755	27	2		2	PCDHB6	5	140531422	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	33814382	140531422	40383838	41	6539										
SH3RF2	153769	genome.wustl.edu	37	chr5	145428792	145428792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcatcttcccaaacaattacGtcatccccattttcaggtgt	5	13	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:145428792G>A	ENST00000511217.1	+	6	1358	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.V436I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	436	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACAATTACGTCATCCCCAT	0.607											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	69	69					5																	145428792		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1306G>A	5.37:g.145428792G>A	ENSP00000424497:p.Val436Ile	1694	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.V436I	ENST00000511217.1	37	c.1306	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452171	0.63290	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.51817	0.69;0.69	5.29	5.29	0.74685	Src homology-3 domain (4);	0.192109	0.34802	N	0.003667	T	0.45135	0.1327	M	0.67517	2.055	0.49389	D	0.999788	P	0.43938	0.822	B	0.32342	0.144	T	0.56257	-0.8009	10	0.59425	D	0.04	-18.2123	17.6888	0.88263	0.0:0.0:1.0:0.0	.	436	Q8TEC5	SH3R2_HUMAN	I	436	ENSP00000352028:V436I;ENSP00000424497:V436I	ENSP00000352028:V436I	V	+	1	0	SH3RF2	145408985	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.238000	0.65366	2.470000	0.83445	0.484000	0.47621	GTC	SH3RF2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.607	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	G	NM_152550		145428792	1	no_errors	ENST00000359120	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145428792	G	A	145428792	3	1	49	1	0	0	0	0	1	0	0	0	14289	1145	40	2	1328	2	SH3RF2	5	145428792	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	4897370	145428792	35486468	42	6540										
FAT2	2196	genome.wustl.edu	37	chr5	150914120	150914120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gatgtctgcctggcacgatcGgccacctccatccgtcgcct	10	17	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:150914120G>A	ENST00000261800.5	-	12	9289	c.9277C>T	c.(9277-9279)Cga>Tga	p.R3093*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3093	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCACGATCGGCCACCTCCA	0.577																																																	0													113	94	101					5																	150914120		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9277C>T	5.37:g.150914120G>A	ENSP00000261800:p.Arg3093*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3093*	ENST00000261800.5	37	c.9277	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	51	18.558325	0.99907	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.6	5.6	0.85130	.	0.385617	0.21891	N	0.067584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	14.4565	0.67420	0.0:0.0:0.8528:0.1472	.	.	.	.	X	3093	.	ENSP00000261800:R3093X	R	-	1	2	FAT2	150894313	1.000000	0.71417	0.976000	0.42696	0.935000	0.57460	3.946000	0.56644	2.640000	0.89533	0.563000	0.77884	CGA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150914120	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	150914120	G	A	150914120	4	1	49	1	0	0	0	0	0	1	0	0	5708	1124	39	2	3820	2	FAT2	5	150914120	Nonsense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	5485328	150914120	30001140	43	6541										
LARP1	23367	genome.wustl.edu	37	chr5	154185505	154185505	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtacccctcagtcattgcccAagttccagcatccttcccat	5	17	2	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr5:154185505A>C	ENST00000336314.4	+	15	2404	c.2380A>C	c.(2380-2382)Aag>Cag	p.K794Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	871					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCATTGCCCAAGTTCCAGCA	0.502																																																	0													161	150	154					5																	154185505		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2380A>C	5.37:g.154185505A>C	ENSP00000336721:p.Lys794Gln		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.K794Q	ENST00000336314.4	37	c.2380	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299309	0.81136	.	.	ENSG00000155506	ENST00000336314	T	0.26067	1.76	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.76170	2.325	0.80722	D	1	P;P	0.49559	0.58;0.925	B;P	0.53549	0.393;0.729	T	0.35176	-0.9799	10	0.42905	T	0.14	-24.3189	16.3264	0.82983	1.0:0.0:0.0:0.0	.	871;794	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	794	ENSP00000336721:K794Q	ENSP00000336721:K794Q	K	+	1	0	LARP1	154165698	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.262000	0.95591	2.259000	0.74868	0.374000	0.22700	AAG	LARP1	-	NULL		0.502	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	A	NM_033551		154185505	1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154185505	A	C	154185505	3	2	49	1	0	0	0	0	1	0	0	0	8648	131	5	5	2438	5	LARP1	5	154185505	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	3271385	154185505	26729755	44	6542										
LRRC16A	55604	genome.wustl.edu	37	chr6	25435767	25435767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aagatggcgtcacccgaggaCgtgagtgaggtgctggctca	16	9	2	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:25435767C>T	ENST00000329474.6	+	5	674	c.306C>T	c.(304-306)gaC>gaT	p.D102D	LRRC16A_ENST00000377969.3_5'UTR|snoU13_ENST00000458807.1_RNA	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	102					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CACCCGAGGACGTGAGTGAGG	0.522																																																	0													63	68	66					6																	25435767		2044	4182	6226	SO:0001819	synonymous_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.306C>T	6.37:g.25435767C>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D102	ENST00000329474.6	37	c.306	CCDS54973.1	6																																																																																			LRRC16A	-	NULL		0.522	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25435767	1	no_errors	ENST00000329474	ensembl	human	novel	70_37	silent	SNP	0.981	T	T	25435767	C	T	25435767	2	4	49	1	0	0	0	0	0	0	0	1	8994	535	19	2		2	LRRC16A	6	25435767	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		25435767	145679300	45	6543										
TRIM26	7726	genome.wustl.edu	37	chr6	30153705	30153705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	acttgagccacaggaaggggAccaggcgccgggtgaaggtg	18	9	0	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:30153705A>G	ENST00000454678.2	-	10	2004	c.1568T>C	c.(1567-1569)gTc>gCc	p.V523A	TRIM26_ENST00000453195.1_Missense_Mutation_p.V523A|TRIM26_ENST00000437089.1_Missense_Mutation_p.V523A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	523	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CAGGAAGGGGACCAGGCGCCG	0.592																																																	0													68	55	60					6																	30153705		1511	2708	4219	SO:0001583	missense	7726			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1568T>C	6.37:g.30153705A>G	ENSP00000410446:p.Val523Ala		A6NG96|Q5SRL2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V523A	ENST00000454678.2	37	c.1568	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305481	0.40795	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.70631	-0.5;-0.5;-0.5	5.68	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.191158	0.25307	N	0.031619	T	0.43055	0.1230	L	0.43923	1.385	0.09310	N	1	B;B	0.20164	0.017;0.042	B;B	0.26202	0.062;0.067	T	0.39251	-0.9623	10	0.46703	T	0.11	.	7.4729	0.27359	0.832:0.0:0.168:0.0	.	523;523	Q5SRL2;Q12899	.;TRI26_HUMAN	A	523	ENSP00000391879:V523A;ENSP00000410446:V523A;ENSP00000395491:V523A	ENSP00000395491:V523A	V	-	2	0	TRIM26	30261684	0.650000	0.27331	0.184000	0.23157	0.987000	0.75469	1.364000	0.34171	0.968000	0.38212	0.445000	0.29226	GTC	TRIM26	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.592	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1	A	NM_003449		30153705	-1	no_errors	ENST00000437089	ensembl	human	known	70_37	missense	SNP	0.030	G	G	30153705	A	G	30153705	3	3	49	1	0	0	0	0	1	0	0	0	16531	275	10	5	55	5	TRIM26	6	30153705	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	4717938	30153705	140961362	46	6544										
RGL2	5863	genome.wustl.edu	37	chr6	33263121	33263121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgcttccccccaggctgcccGaagcctgtggatggggctgg	15	14	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:33263121G>A	ENST00000497454.1	-	8	1594	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.R285W	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	367	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAGGCTGCCCGAAGCCTGTGG	0.637																																																	0													17	19	18					6																	33263121		2200	4297	6497	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1099C>T	6.37:g.33263121G>A	ENSP00000420211:p.Arg367Trp		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R367W	ENST00000497454.1	37	c.1099	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196567	0.58126	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.32515	1.45;1.45	5.01	3.16	0.36331	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.055366	0.64402	D	0.000002	T	0.41213	0.1149	M	0.76170	2.325	0.48975	D	0.999737	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.938	T	0.42816	-0.9429	10	0.87932	D	0	.	10.0435	0.42173	0.0:0.0:0.6326:0.3674	.	285;367	B4DG72;O15211	.;RGL2_HUMAN	W	367;231;285	ENSP00000420211:R367W;ENSP00000403070:R285W	ENSP00000400083:R231W	R	-	1	2	RGL2	33371099	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	4.673000	0.61604	0.647000	0.30713	0.643000	0.83706	CGG	RGL2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.637	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33263121	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	0.984	A	A	33263121	G	A	33263121	3	1	49	1	0	0	0	0	1	0	0	0	13307	1057	37	1	1278	1	RGL2	6	33263121	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	3109416	33263121	137851946	47	6545										
C6orf142	90523	genome.wustl.edu	37	chr6	54095657	54095657	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cttcagtcatctgtccttctCcttgagtgatgaacaggaga	9	10	4	4			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:54095657C>G	ENST00000274897.5	+	11	1372	c.1259C>G	c.(1258-1260)tCc>tGc	p.S420C	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.S955C|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	420						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGTCCTTCTCCTTGAGTGAT	0.493																																																	0													226	199	208					6																	54095657		2203	4300	6503	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1259C>G	6.37:g.54095657C>G	ENSP00000274897:p.Ser420Cys		B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.S420C	ENST00000274897.5	37	c.1259	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538456	0.65085	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.25749	2.13;1.78	5.59	1.93	0.25924	.	0.000000	0.38217	N	0.001773	T	0.07638	0.0192	N	0.24115	0.695	0.80722	D	1	P;P	0.42871	0.792;0.681	B;B	0.41202	0.35;0.247	T	0.11891	-1.0569	10	0.87932	D	0	.	6.9316	0.24444	0.0:0.2782:0.0:0.7217	.	955;420	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	C	420;955	ENSP00000274897:S420C;ENSP00000426290:S955C	ENSP00000274897:S420C	S	+	2	0	MLIP	54203616	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	1.668000	0.37481	0.091000	0.17302	-0.312000	0.09012	TCC	MLIP	-	NULL		0.493	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	C	NM_138569		54095657	1	no_errors	ENST00000274897	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54095657	C	G	54095657	3	3	49	1	0	0	0	0	1	0	0	0	2338	855	30	1	1301	1	C6orf142	6	54095657	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	20832536	54095657	117019410	48	6546										
COL9A1	1297	genome.wustl.edu	37	chr6	70978539	70978539	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	taggcctggatatcctgagcGacctggtggacaggcattgg	15	9	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:70978539G>C	ENST00000357250.6	-	17	1413	c.1255C>G	c.(1255-1257)Cgc>Ggc	p.R419G	COL9A1_ENST00000320755.7_Missense_Mutation_p.R176G|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.R176G	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	419	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.R419G(1)|p.R176G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TATCCTGAGCGACCTGGTGGA	0.458																																																	2	Substitution - Missense(2)	lung(2)											86	87	87					6																	70978539		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1255C>G	6.37:g.70978539G>C	ENSP00000349790:p.Arg419Gly		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R419G	ENST00000357250.6	37	c.1255	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133931	0.56828	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.92699	-3.09;-3.09;-3.09	5.54	5.54	0.83059	.	0.179276	0.52532	D	0.000063	D	0.86037	0.5837	N	0.12853	0.265	0.48452	D	0.999659	P;P	0.51449	0.945;0.807	P;B	0.54270	0.747;0.323	D	0.85718	0.1323	10	0.23302	T	0.38	.	16.4154	0.83732	0.0:0.0:1.0:0.0	.	419;176	P20849;P20849-2	CO9A1_HUMAN;.	G	419;176;176	ENSP00000349790:R419G;ENSP00000315252:R176G;ENSP00000359530:R176G	ENSP00000315252:R176G	R	-	1	0	COL9A1	71035260	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	5.120000	0.64685	2.598000	0.87819	0.650000	0.86243	CGC	COL9A1	-	pfam_Collagen		0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	G			70978539	-1	no_errors	ENST00000357250	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70978539	G	C	70978539	3	2	49	1	0	0	0	0	1	0	0	0	3712	1058	37	1	1598	1	COL9A1	6	70978539	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	16882882	70978539	100136528	49	6547										
AIM1	202	genome.wustl.edu	37	chr6	106967421	106967421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	agaatcaagctcttggtcctCagcctaaccaagatgataaa	7	10	3	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:106967421C>G	ENST00000369066.3	+	2	1601	c.1114C>G	c.(1114-1116)Cag>Gag	p.Q372E		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCTTGGTCCTCAGCCTAACCA	0.453																																																	0													92	102	99					6																	106967421		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1114C>G	6.37:g.106967421C>G	ENSP00000358062:p.Gln372Glu		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.Q372E	ENST00000369066.3	37	c.1114	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	C	9.818	1.184920	0.21870	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71222	-0.55	4.72	3.83	0.44106	.	1.302790	0.05443	N	0.548014	T	0.34978	0.0916	N	0.24115	0.695	0.39816	D	0.972775	B	0.06786	0.001	B	0.06405	0.002	T	0.09207	-1.0685	10	0.02654	T	1	.	13.0023	0.58683	0.0:0.8315:0.1685:0.0	.	372	Q9Y4K1	AIM1_HUMAN	E	780;372	ENSP00000358062:Q372E	ENSP00000285105:Q780E	Q	+	1	0	AIM1	107074114	0.051000	0.20477	0.062000	0.19696	0.046000	0.14306	2.853000	0.48317	1.169000	0.42739	0.655000	0.94253	CAG	AIM1	-	NULL		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	C			106967421	1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.073	G	G	106967421	C	G	106967421	3	3	49	1	0	0	0	0	1	0	0	0	430	827	29	1	1120	1	AIM1	6	106967421	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	35988882	106967421	64147646	50	6548										
CD164	8763	genome.wustl.edu	37	chr6	109703435	109703435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggagtggtgaccagcgggagGgacgtcaccggcgccgaggt	20	10	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:109703435G>A	ENST00000310786.4	-	1	212	c.147C>T	c.(145-147)tcC>tcT	p.S49S	RP11-425D10.10_ENST00000563105.1_RNA|CD164_ENST00000506649.1_5'Flank|CD164_ENST00000413644.2_Silent_p.S49S|CD164_ENST00000512821.1_Silent_p.S49S|CD164_ENST00000275080.7_Silent_p.S49S|CD164_ENST00000504373.1_5'Flank|CD164_ENST00000368961.5_Silent_p.S49S|CD164_ENST00000324953.5_Silent_p.S49S	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	49					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CCAGCGGGAGGGACGTCACCG	0.711																																																	0													85	53	64					6																	109703435		2189	4293	6482	SO:0001819	synonymous_variant	8763			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.147C>T	6.37:g.109703435G>A			B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	pfam_CD164_MGC24,prints_CD164_MGC24	p.S49	ENST00000310786.4	37	c.147	CCDS5073.1	6																																																																																			CD164	-	pfam_CD164_MGC24		0.711	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD164	HGNC	protein_coding	OTTHUMT00000041742.1	G	NM_006016		109703435	-1	no_errors	ENST00000310786	ensembl	human	known	70_37	silent	SNP	0.000	A	A	109703435	G	A	109703435	2	1	49	1	0	0	0	0	0	0	0	1	2974	1219	43	4		4	CD164	6	109703435	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	2736014	109703435	61411632	51	6549										
AKD1	221264	genome.wustl.edu	37	chr6	109935385	109935385	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	attagcagttcactttgttaCcatctttatcaactttagca	4	9	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:109935385C>T	ENST00000424296.2	-	15	1686		c.e15+1		AK9_ENST00000341338.6_Splice_Site|AK9_ENST00000368948.2_Splice_Site	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CACTTTGTTACCATCTTTATC	0.363																																																	0													137	102	112					6																	109935385		692	1591	2283	SO:0001630	splice_region_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1609+1G>A	6.37:g.109935385C>T			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	SNP	-	e14+1	ENST00000424296.2	37	c.1609+1	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	3.865	-0.029094	0.07589	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	.	.	.	2.99	0.0362	0.14191	.	.	.	.	.	.	.	.	.	.	.	0.34820	D	0.738619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0467	0.14487	0.0:0.4482:0.424:0.1278	.	.	.	.	.	-1	.	.	.	-	.	.	AKD1	110042078	0.919000	0.31177	0.073000	0.20177	0.023000	0.10783	0.143000	0.16115	-0.018000	0.14079	-0.878000	0.02970	.	AKD1	-	-		0.363	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128	Intron	109935385	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	splice_site	SNP	0.115	T	T	109935385	C	T	109935385	5	4	49	1	0	0	0	0	0	0	1	0	460	521	18	4	4233	4	AKD1	6	109935385	Splice_Site	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	231950	109935385	61179682	52	6550										
ENPP3	5169	genome.wustl.edu	37	chr6	132014695	132014695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tcctgatttgccaaagcgacTgcactatgccaagaacgtca	8	12	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:132014695T>C	ENST00000414305.1	+	16	1671	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	ENPP3_ENST00000357639.3_Missense_Mutation_p.L448P|ENPP3_ENST00000358229.5_Missense_Mutation_p.L448P			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	448	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCAAAGCGACTGCACTATGCC	0.393																																																	0													195	173	180					6																	132014695		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1343T>C	6.37:g.132014695T>C	ENSP00000406261:p.Leu448Pro		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.L448P	ENST00000414305.1	37	c.1343	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111455	0.77210	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75260	-0.92;-0.92;-0.92	5.8	5.8	0.92144	Alkaline-phosphatase-like, core domain (1);	0.206020	0.33092	N	0.005285	D	0.86539	0.5957	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89536	0.3789	10	0.87932	D	0	-11.5821	15.1328	0.72539	0.0:0.0:0.0:1.0	.	448	O14638	ENPP3_HUMAN	P	448	ENSP00000406261:L448P;ENSP00000350265:L448P;ENSP00000350964:L448P	ENSP00000350265:L448P	L	+	2	0	ENPP3	132056388	1.000000	0.71417	0.996000	0.52242	0.708000	0.40852	6.868000	0.75516	2.203000	0.70933	0.460000	0.39030	CTG	ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	T			132014695	1	no_errors	ENST00000357639	ensembl	human	known	70_37	missense	SNP	0.998	C	C	132014695	T	C	132014695	3	2	49	1	0	0	0	0	1	0	0	0	5143	1580	55	5	1401	5	ENPP3	6	132014695	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	22079310	132014695	39100372	53	6551										
TCP10	6953	genome.wustl.edu	37	chr6	167787843	167787843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ccactcagccacctacctgcCgctctgcactgtctggggca	9	18	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr6:167787843C>T	ENST00000397829.4	-	7	952	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	TCP10_ENST00000366827.2_Missense_Mutation_p.R262Q	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	289						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		ACCTACCTGCCGCTCTGCACT	0.582																																																	0													36	40	38					6																	167787843		1882	4086	5968	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.785G>A	6.37:g.167787843C>T	ENSP00000380929:p.Arg262Gln		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.R262Q	ENST00000397829.4	37	c.785	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585651	0.28268	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.30182	1.54;1.92	1.38	-2.57	0.06248	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39251	-0.9623	9	0.24483	T	0.36	.	0.5073	0.00590	0.175:0.1993:0.2252:0.4005	.	289;289	Q12799;Q12799-2	TCP10_HUMAN;.	Q	262	ENSP00000355792:R262Q;ENSP00000380929:R262Q	ENSP00000355792:R262Q	R	-	2	0	TCP10	167707833	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.319000	0.02702	-1.604000	0.01595	-3.175000	0.00056	CGG	TCP10	-	NULL		0.582	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	C	NM_004610		167787843	-1	no_errors	ENST00000397829	ensembl	human	known	70_37	missense	SNP	0.000	T	T	167787843	C	T	167787843	3	4	49	1	0	0	0	0	1	0	0	0	15740	652	23	2	203	2	TCP10	6	167787843	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	35773148	167787843	3327224	54	6552										
TMEM184A	202915	genome.wustl.edu	37	chr7	1590534	1590534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gaggctgagccaggagtcgaAggcgtagatgggcacgatga	18	7	0	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:1590534A>T	ENST00000297477.5	-	3	620	c.304T>A	c.(304-306)Ttc>Atc	p.F102I		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	102					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CAGGAGTCGAAGGCGTAGATG	0.622																																																	0													91	101	98					7																	1590534		2203	4300	6503	SO:0001583	missense	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.304T>A	7.37:g.1590534A>T	ENSP00000297477:p.Phe102Ile		Q8TBQ6	Missense_Mutation	SNP	pfam_Ost-alpha	p.F102I	ENST00000297477.5	37	c.304	CCDS43537.1	7	.	.	.	.	.	.	.	.	.	.	A	13.94	2.385732	0.42308	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.15	2.69	0.31865	.	0.000000	0.85682	U	0.000000	T	0.19927	0.0479	N	0.13098	0.295	0.80722	D	1	B	0.23128	0.08	B	0.32090	0.14	T	0.05649	-1.0872	10	0.11794	T	0.64	-5.9576	7.696	0.28596	0.7859:0.1404:0.0737:0.0	.	102	Q6ZMB5	T184A_HUMAN	I	102	ENSP00000297477:F102I;ENSP00000325945:F102I;ENSP00000398382:F102I;ENSP00000389092:F102I;ENSP00000403499:F102I	ENSP00000297477:F102I	F	-	1	0	TMEM184A	1557060	1.000000	0.71417	0.955000	0.39395	0.791000	0.44710	5.130000	0.64745	0.270000	0.21984	-0.534000	0.04291	TTC	TMEM184A	-	pfam_Ost-alpha		0.622	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4	A	NM_152689		1590534	-1	no_errors	ENST00000297477	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1590534	A	T	1590534	3	4	49	1	0	0	0	0	1	0	0	0	16134	72	3	5	965	5	TMEM184A	7	1590534	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09		1590534	157548129	55	6553										
MPP6	51678	genome.wustl.edu	37	chr7	24703216	24703216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctatgtgttttaggtatttgTgaagtgtcattttgattata	9	2	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:24703216T>G	ENST00000222644.5	+	6	909	c.659T>G	c.(658-660)gTg>gGg	p.V220G	MPP6_ENST00000396475.2_Missense_Mutation_p.V220G|MPP6_ENST00000409761.1_Missense_Mutation_p.V108G			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TAGGTATTTGTGAAGTGTCAT	0.303																																																	0													116	116	116					7																	24703216		2203	4300	6503	SO:0001583	missense	51678			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.659T>G	7.37:g.24703216T>G	ENSP00000222644:p.Val220Gly		B2RAF0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.V220G	ENST00000222644.5	37	c.659	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545246	0.86022	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	6.08	6.08	0.98989	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.51477	D	0.000097	D	0.96620	0.8897	H	0.97265	3.97	0.80722	D	1	D	0.64830	0.994	D	0.71656	0.974	D	0.97940	1.0325	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	220	Q9NZW5	MPP6_HUMAN	G	220;108;220;220	ENSP00000222644:V220G;ENSP00000386262:V108G;ENSP00000379737:V220G;ENSP00000391020:V220G	ENSP00000222644:V220G	V	+	2	0	MPP6	24669741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.333000	0.79357	0.482000	0.46254	GTG	MPP6	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.303	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	T			24703216	1	no_errors	ENST00000222644	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24703216	T	G	24703216	3	3	49	1	0	0	0	0	1	0	0	0	9761	1696	59	5	677	5	MPP6	7	24703216	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	23112682	24703216	134435447	56	6554										
KIAA0895	23366	genome.wustl.edu	37	chr7	36406537	36406537	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcactcacccgtcacgcgaaTggactccagcatcgtcgccc	9	18	2	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:36406537T>C	ENST00000297063.6	-	3	229				KIAA0895_ENST00000338533.5_5'Flank|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.I5V|KIAA0895_ENST00000317020.6_Missense_Mutation_p.I5V|KIAA0895_ENST00000436884.1_Intron|KIAA0895_ENST00000415803.2_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895											breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCACGCGAATGGACTCCAGC	0.786																																																	0													3	3	3					7																	36406537		1229	3031	4260	SO:0001627	intron_variant	23366			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.179-9338A>G	7.37:g.36406537T>C			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.I5V	ENST00000297063.6	37	c.13	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512759	0.44660	.	.	ENSG00000164542	ENST00000317020;ENST00000440378	.	.	.	3.23	3.23	0.37069	.	0.846172	0.10454	N	0.672785	T	0.45994	0.1370	L	0.29908	0.895	0.80722	D	1	B;B;B	0.20671	0.047;0.0;0.002	B;B;B	0.11329	0.006;0.001;0.002	T	0.40440	-0.9563	9	0.48119	T	0.1	.	11.3288	0.49465	0.0:0.0:0.0:1.0	.	5;5;5	B4DGN6;B7ZLT4;Q8NCT3-3	.;.;.	V	5	.	ENSP00000319251:I5V	I	-	1	0	KIAA0895	36373062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	1.709000	0.51313	0.482000	0.46254	ATT	KIAA0895	-	NULL		0.786	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	T	NM_015314		36406537	-1	no_errors	ENST00000317020	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36406537	T	C	36406537	1	2	49	0	1	0	0	0	0	0	0	0	8217	1464	51	5		5	KIAA0895	7	36406537	Intron	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	11703321	36406537	122732126	57	6555										
EPDR1	54749	genome.wustl.edu	37	chr7	37989929	37989929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctgggtattaaagacccctcGgtgtttacccctccaagcac	8	14	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:37989929G>A	ENST00000199448.4	+	3	985	c.606G>A	c.(604-606)tcG>tcA	p.S202S	EPDR1_ENST00000476620.1_Silent_p.S100S|EPDR1_ENST00000559325.1_Silent_p.S322S|EPDR1_ENST00000425345.1_Silent_p.S141S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	202					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAGACCCCTCGGTGTTTACCC	0.507																																																	0													51	46	48					7																	37989929		2203	4300	6503	SO:0001819	synonymous_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.606G>A	7.37:g.37989929G>A			A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.S322	ENST00000199448.4	37	c.966	CCDS5454.2	7																																																																																			EPDR1	-	pfam_Ependymin,smart_Ependymin,prints_Ependymin		0.507	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	G	NM_017549		37989929	1	no_errors	ENST00000559325	ensembl	human	known	70_37	silent	SNP	0.002	A	A	37989929	G	A	37989929	2	1	49	1	0	0	0	0	0	0	0	1	5175	1103	39	2		2	EPDR1	7	37989929	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	1583392	37989929	121148734	58	6556										
MRPS24	64951	genome.wustl.edu	37	chr7	43906468	43906468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctccaactggttaccccggcGctttaaaaccagctggtcag	9	14	1	0	rs375775056		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:43906468G>A	ENST00000317534.5	-	4	395	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	112					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTACCCCGGCGCTTTAAAACC	0.552																																																	0								G	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	65	62	63		334,	5	1	7		63	0,8600		0,0,4300	no	missense,utr-3	MRPS24,URGCP-MRPS24	NM_032014.2,NM_001204871.1	180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	112/168,	43906468	1,13005	2203	4300	6503	SO:0001583	missense	64951			AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.334C>T	7.37:g.43906468G>A	ENSP00000318158:p.Arg112Cys		A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	NULL	p.R112C	ENST00000317534.5	37	c.334	CCDS5473.1	7	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069277	0.55539	2.27E-4	0.0	ENSG00000062582	ENST00000317534	T	0.63580	-0.05	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.86210	0.1624	10	0.87932	D	0	-12.1142	15.7809	0.78260	0.0:0.0:1.0:0.0	.	112	Q96EL2	RT24_HUMAN	C	112	ENSP00000318158:R112C	ENSP00000318158:R112C	R	-	1	0	MRPS24	43872993	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.590000	0.53979	2.320000	0.78422	0.655000	0.94253	CGC	MRPS24	-	NULL		0.552	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS24	HGNC	protein_coding	OTTHUMT00000250949.1	G	NM_032014		43906468	-1	no_errors	ENST00000317534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43906468	G	A	43906468	3	1	49	1	0	0	0	0	1	0	0	0	9858	1087	38	2	173	2	MRPS24	7	43906468	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	5916539	43906468	115232195	59	6557										
BAZ1B	9031	genome.wustl.edu	37	chr7	72861622	72861623	+	In_Frame_Ins	INS	-	-	TCC													0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cagccacctcataatcttctINStcctcctcctcctcttcttc					rs551016129		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:72861622_72861623insTCC	ENST00000339594.4	-	16	4153_4154	c.3815_3816insGGA	c.(3814-3816)gaa>gaGGAa	p.1272_1272E>EE	BAZ1B_ENST00000404251.1_In_Frame_Ins_p.1272_1272E>EE	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1272	Poly-Glu.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATAAtcttcttcctcctcctc	0.45																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0																																										SO:0001652	inframe_insertion	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3813_3815dupGGA	7.37:g.72861629_72861631dupTCC	ENSP00000342434:p.Glu1273dup		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	In_Frame_Ins	INS	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.1274in_frame_insE	ENST00000339594.4	37	c.3816_3815	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold		0.45	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	-	NM_032408		72861623	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	in_frame_ins	INS	0.614:0.989	TCC	TCC	72861623	-	TCC	72861622	7	5	49	1	0	1	1	0	0	0	0	0	1331	1606	56	0	651	0	BAZ1B	7	72861622	In_Frame_Ins	INS	-	TCGA-C5-A7UE-01A-11D-A33O-09	28955154	72861622	86277041	60	6558										
EIF4H	7458	genome.wustl.edu	37	chr7	73609171	73609171	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttcagagatggccctcccctCcgtggatccaacatggattt	9	13	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:73609171C>T	ENST00000265753.8	+	6	709	c.570C>T	c.(568-570)ctC>ctT	p.L190L	EIF4H_ENST00000353999.6_Silent_p.L170L	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	190					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GCCCTCCCCTCCGTGGATCCA	0.607																																																	0													41	46	44					7																	73609171		2203	4300	6503	SO:0001819	synonymous_variant	7458				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.570C>T	7.37:g.73609171C>T			A8K3R1|D3DXF6|D3DXF8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L190	ENST00000265753.8	37	c.570	CCDS5564.1	7																																																																																			EIF4H	-	NULL		0.607	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4H	HGNC	protein_coding	OTTHUMT00000252375.2	C	NM_022170		73609171	1	no_errors	ENST00000265753	ensembl	human	known	70_37	silent	SNP	0.994	T	T	73609171	C	T	73609171	2	4	49	1	0	0	0	0	0	0	0	1	5051	842	30	1		1	EIF4H	7	73609171	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	747549	73609171	85529492	61	6559										
MCM7	4176	genome.wustl.edu	37	chr7	99693763	99693763	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctgccgtaagccccactcctGaggagccccggcctgttgtg	12	16	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:99693763G>C	ENST00000303887.5	-	11	1874	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.S234*|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	410	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCACTCCTGAGGAGCCCCG	0.552																																																	0													26	28	27					7																	99693763		2202	4300	6502	SO:0001587	stop_gained	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1229C>G	7.37:g.99693763G>C	ENSP00000307288:p.Ser410*		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.S410*	ENST00000303887.5	37	c.1229	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.242201	0.99729	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6077	15.5504	0.76148	0.0:0.0:1.0:0.0	.	.	.	.	X	410;347;303;234	.	ENSP00000307288:S410X	S	-	2	0	MCM7	99531699	1.000000	0.71417	0.949000	0.38748	0.947000	0.59692	7.633000	0.83260	2.518000	0.84900	0.655000	0.94253	TCA	MCM7	-	pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase		0.552	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	G			99693763	-1	no_errors	ENST00000303887	ensembl	human	known	70_37	nonsense	SNP	0.999	C	C	99693763	G	C	99693763	4	2	49	1	0	0	0	0	0	1	0	0	9415	1294	45	1	950	1	MCM7	7	99693763	Nonsense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	26084592	99693763	59444900	62	6560										
WASL	8976	genome.wustl.edu	37	chr7	123329188	123329188	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	caggtgttggtggtgtagacTcttggccatcagccaccttg	13	10	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:123329188T>A	ENST00000223023.4	-	10	1696	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	455					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGTAGACTCTTGGCCATC	0.423																																																	0													149	147	148					7																	123329188		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1364A>T	7.37:g.123329188T>A	ENSP00000223023:p.Glu455Val		A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.E455V	ENST00000223023.4	37	c.1364	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388673	0.61956	.	.	ENSG00000106299	ENST00000223023	D	0.99741	-6.6	5.29	5.29	0.74685	Wiscott-Aldrich syndrome, C-terminal (1);	0.174398	0.48767	D	0.000165	D	0.99248	0.9738	L	0.27053	0.805	0.51012	D	0.999909	D	0.67145	0.996	D	0.65010	0.931	D	0.99327	1.0908	10	0.87932	D	0	-10.598	15.2082	0.73195	0.0:0.0:0.0:1.0	.	455	O00401	WASL_HUMAN	V	455	ENSP00000223023:E455V	ENSP00000223023:E455V	E	-	2	0	WASL	123116424	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.611000	0.67674	1.983000	0.57843	0.477000	0.44152	GAG	WASL	-	superfamily_WASP_C		0.423	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	T	NM_003941		123329188	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	missense	SNP	0.996	A	A	123329188	T	A	123329188	3	1	49	1	0	0	0	0	1	0	0	0	17287	1551	54	5	161	5	WASL	7	123329188	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	23635425	123329188	35809475	63	6561										
CLEC5A	23601	genome.wustl.edu	37	chr7	141635692	141635692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctgctttcattccaagatgaTtcagaagtggataagaaaaa	8	6	2	4			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:141635692T>C	ENST00000546910.1	-	5	463	c.267A>G	c.(265-267)gaA>gaG	p.E89E	CLEC5A_ENST00000551012.2_Silent_p.E66E|CLEC5A_ENST00000438351.1_Silent_p.E66E|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	89	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCAAGATGATTCAGAAGTGG	0.423																																					GBM(154;1592 2613 3360 42983)												0													128	120	122					7																	141635692		2203	4300	6503	SO:0001819	synonymous_variant	23601				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.267A>G	7.37:g.141635692T>C			Q52M11|Q9UKQ0	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E89	ENST00000546910.1	37	c.267	CCDS5870.1	7																																																																																			CLEC5A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.423	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC5A	HGNC	protein_coding	OTTHUMT00000347756.1	T	NM_013252		141635692	-1	no_errors	ENST00000546910	ensembl	human	known	70_37	silent	SNP	0.069	C	C	141635692	T	C	141635692	2	2	49	1	0	0	0	0	0	0	0	1	3524	1490	52	5		5	CLEC5A	7	141635692	Silent	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	18306504	141635692	17502971	64	6562										
KCNH2	3757	genome.wustl.edu	37	chr7	150648917	150648917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ccgcgcagtcttcagcagccCgatcagctgggggacaggga	15	13	3	0	rs199473514		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr7:150648917C>T	ENST00000262186.5	-	7	1965	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	KCNH2_ENST00000330883.4_Missense_Mutation_p.G182R|KCNH2_ENST00000430723.3_Missense_Mutation_p.G522R|KCNH2_ENST00000392968.2_Missense_Mutation_p.G426R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	522					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TTCAGCAGCCCGATCAGCTGG	0.667																																					GBM(137;110 1844 13671 20123 45161)												0													23	25	24					7																	150648917		2201	4297	6498	SO:0001583	missense	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1564G>A	7.37:g.150648917C>T	ENSP00000262186:p.Gly522Arg		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G522R	ENST00000262186.5	37	c.1564	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485717	0.44147	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	4.08	3.19	0.36642	Ion transport (1);	0.123452	0.53938	D	0.000042	D	0.96247	0.8776	L	0.39020	1.185	0.48975	D	0.999736	D;D;D;D;P	0.89917	1.0;1.0;0.975;0.999;0.943	D;D;P;D;P	0.97110	1.0;0.999;0.833;0.934;0.576	D	0.95735	0.8778	10	0.87932	D	0	.	10.7395	0.46145	0.1918:0.8082:0.0:0.0	.	426;522;182;522;182	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	R	182;426;522;182;522	ENSP00000328531:G182R;ENSP00000376695:G426R;ENSP00000262186:G522R;ENSP00000387657:G522R	ENSP00000262186:G522R	G	-	1	0	KCNH2	150279850	1.000000	0.71417	0.493000	0.27502	0.081000	0.17604	7.536000	0.82023	0.919000	0.36945	0.491000	0.48974	GGG	KCNH2	-	pfam_Ion_trans_dom		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150648917	-1	no_errors	ENST00000262186	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150648917	C	T	150648917	3	4	49	1	0	0	0	0	1	0	0	0	8052	652	23	2	2220	2	KCNH2	7	150648917	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	9013225	150648917	8489746	65	6563										
GOT1L1	137362	genome.wustl.edu	37	chr8	37794817	37794817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ccaccacattgaggagtatgTcggggtccatgcatagcttc	11	11	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr8:37794817T>C	ENST00000307599.4	-	4	596	c.497A>G	c.(496-498)gAc>gGc	p.D166G	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	166					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GAGGAGTATGTCGGGGTCCAT	0.522																																																	0													45	44	44					8																	37794817		1867	4100	5967	SO:0001583	missense	137362			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.497A>G	8.37:g.37794817T>C	ENSP00000303077:p.Asp166Gly		A8MWL4	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.D166G	ENST00000307599.4	37	c.497	CCDS47839.1	8	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298554	0.23650	.	.	ENSG00000169154	ENST00000307599	T	0.26373	1.74	5.04	-3.66	0.04489	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.044700	0.07528	N	0.911629	T	0.15219	0.0367	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35699	-0.9778	10	0.66056	D	0.02	-1.2652	6.7919	0.23705	0.1661:0.5744:0.0:0.2595	.	166	Q8NHS2	AATC2_HUMAN	G	166	ENSP00000303077:D166G	ENSP00000303077:D166G	D	-	2	0	GOT1L1	37913974	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.746000	0.04829	-0.606000	0.05746	0.449000	0.29647	GAC	GOT1L1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.522	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	HGNC	protein_coding	OTTHUMT00000376823.1	T	NM_152413		37794817	-1	no_errors	ENST00000307599	ensembl	human	known	70_37	missense	SNP	0.000	C	C	37794817	T	C	37794817	3	2	49	1	0	0	0	0	1	0	0	0	6599	1667	58	5	637	5	GOT1L1	8	37794817	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09		37794817	108569205	66	6564										
IMPAD1	54928	genome.wustl.edu	37	chr8	57905808	57905808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtagaacatcttgcggttggAcagcacgtcgccgctggtca	13	11	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr8:57905808A>C	ENST00000262644.4	-	1	595	c.337T>G	c.(337-339)Tcc>Gcc	p.S113A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	113					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTGCGGTTGGACAGCACGTCG	0.677																																																	0													70	61	64					8																	57905808		2202	4300	6502	SO:0001583	missense	54928				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.337T>G	8.37:g.57905808A>C	ENSP00000262644:p.Ser113Ala		Q6NVY7	Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.S113A	ENST00000262644.4	37	c.337	CCDS6169.1	8	.	.	.	.	.	.	.	.	.	.	A	35	5.416418	0.96092	.	.	ENSG00000104331	ENST00000262644;ENST00000517461	T;T	0.80304	-1.36;1.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79022	-0.1973	10	0.07325	T	0.83	-0.017	14.2492	0.66009	1.0:0.0:0.0:0.0	.	113	Q9NX62	IMPA3_HUMAN	A	113;38	ENSP00000262644:S113A;ENSP00000430185:S38A	ENSP00000262644:S113A	S	-	1	0	IMPAD1	58068362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.353000	0.79414	1.965000	0.57142	0.454000	0.30748	TCC	IMPAD1	-	pfam_Inositol_monophosphatase		0.677	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPAD1	HGNC	protein_coding	OTTHUMT00000378665.1	A	NM_017813		57905808	-1	no_errors	ENST00000262644	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57905808	A	C	57905808	3	2	49	1	0	0	0	0	1	0	0	0	7745	275	10	5	762	5	IMPAD1	8	57905808	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	20110991	57905808	88458214	67	6565										
TRPM6	140803	genome.wustl.edu	37	chr9	77427293	77427293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tattctattaagagcttcacAaaatccacccgatccatcac	3	13	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:77427293A>G	ENST00000360774.1	-	12	1602	c.1365T>C	c.(1363-1365)ttT>ttC	p.F455F	TRPM6_ENST00000361255.3_Silent_p.F450F|TRPM6_ENST00000449912.2_Silent_p.F450F|TRPM6_ENST00000451710.3_Silent_p.F455F|TRPM6_ENST00000376871.3_Silent_p.F455F|TRPM6_ENST00000376864.4_Silent_p.F455F|TRPM6_ENST00000376872.3_Silent_p.F455F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	455					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAGCTTCACAAAATCCACCC	0.398																																																	0													106	97	100					9																	77427293		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1365T>C	9.37:g.77427293A>G			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.F455	ENST00000360774.1	37	c.1365	CCDS6647.1	9																																																																																			TRPM6	-	NULL		0.398	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	A	NM_017662		77427293	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	silent	SNP	1.000	G	G	77427293	A	G	77427293	2	3	49	1	0	0	0	0	0	0	0	1	16621	127	5	5		5	TRPM6	9	77427293	Silent	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09		77427293	63786138	68	6566										
FGD3	89846	genome.wustl.edu	37	chr9	95778055	95778055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tttactgtgtgcccaagctgCggctcatgggccagaagttc	12	11	1	1	rs374048614		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:95778055C>T	ENST00000375482.3	+	10	1715	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	FGD3_ENST00000416701.2_Missense_Mutation_p.R407W|FGD3_ENST00000337352.6_Missense_Mutation_p.R407W|FGD3_ENST00000538555.1_Missense_Mutation_p.R10W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	407	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCCAAGCTGCGGCTCATGGG	0.617																																																	0								C	TRP/ARG,TRP/ARG	1,4187		0,1,2093	82	90	87		1219,1219	1.6	1	9		87	0,8444		0,0,4222	no	missense,missense	FGD3	NM_001083536.1,NM_033086.2	101,101	0,1,6315	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging,probably-damaging	407/726,407/726	95778055	1,12631	2094	4222	6316	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1219C>T	9.37:g.95778055C>T	ENSP00000364631:p.Arg407Trp		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R407W	ENST00000375482.3	37	c.1219	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449092	0.63178	2.39E-4	0.0	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;D	0.88354	-0.99;-0.99;-0.99;-2.37	4.94	1.6	0.23607	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.33938	N	0.004404	D	0.93789	0.8014	M	0.83483	2.645	0.50313	D	0.999865	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.988;1.0;0.993	D	0.92930	0.6363	10	0.62326	D	0.03	.	12.7581	0.57347	0.5937:0.4063:0.0:0.0	.	407;407;407	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	W	407;407;407;10	ENSP00000364631:R407W;ENSP00000413833:R407W;ENSP00000336914:R407W;ENSP00000442560:R10W	ENSP00000336914:R407W	R	+	1	2	FGD3	94817876	0.988000	0.35896	0.979000	0.43373	0.786000	0.44442	0.532000	0.23067	0.124000	0.18369	0.455000	0.32223	CGG	FGD3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.617	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	C	NM_033086		95778055	1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.999	T	T	95778055	C	T	95778055	3	4	49	1	0	0	0	0	1	0	0	0	5852	759	27	2	1249	2	FGD3	9	95778055	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	18350762	95778055	45435376	69	6567										
TGFBR1	7046	genome.wustl.edu	37	chr9	101900342	101900343	+	Missense_Mutation	DNP	TC	TC	AT													0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aatgttacgtcatgaaaacaTcctgggatttatagcagcag							TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:101900342_101900343TC>AT	ENST00000374994.4	+	4	893_894	c.776_777TC>AT	c.(775-777)aTC>aAT	p.I259N	TGFBR1_ENST00000550253.1_Missense_Mutation_p.I190N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.I263N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I182N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CATGAAAACATCCTGGGATTTA	0.361																																																	0																																										SO:0001583	missense	7046				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	Exception_encountered	9.37:g.101900342_101900343delinsAT	ENSP00000364133:p.Ile259Asn		Q6IR47|Q706C0|Q706C1	Missense_Mutation|Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I259N|p.I259	ENST00000374994.4	37	c.776|c.777	CCDS6738.1	9																																																																																			TGFBR1	-	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		0.361	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	T|C			101900342|101900343	1	no_errors	ENST00000374994	ensembl	human	known	70_37	missense|silent	SNP	1.000	A|T	AT	101900343	TC	AT	101900342	3	1	49	1	0	0	0	0	1	0	0	0	15851	1435	50	5	790	5	TGFBR1	9	101900342	Missense_Mutation	DNP	TC	TCGA-C5-A7UE-01A-11D-A33O-09	6122287	101900342	39313089	70	6568										
TNC	3371	genome.wustl.edu	37	chr9	117848831	117848831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ccagtgaaaccatcatcacaCtcacaccgcccgtctacaca	4	18	4	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:117848831C>A	ENST00000350763.4	-	3	1590	c.1179G>T	c.(1177-1179)gaG>gaT	p.E393D	TNC_ENST00000345230.3_Missense_Mutation_p.E393D|TNC_ENST00000535648.1_Missense_Mutation_p.E393D|TNC_ENST00000537320.1_Missense_Mutation_p.E393D|TNC_ENST00000341037.4_Missense_Mutation_p.E393D|TNC_ENST00000340094.3_Missense_Mutation_p.E393D|TNC_ENST00000346706.3_Missense_Mutation_p.E393D|TNC_ENST00000423613.2_Missense_Mutation_p.E393D|TNC_ENST00000542877.1_Missense_Mutation_p.E393D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	393	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATCATCACACTCACACCGCC	0.572																																																	0													138	116	123					9																	117848831		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1179G>T	9.37:g.117848831C>A	ENSP00000265131:p.Glu393Asp		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E393D	ENST00000350763.4	37	c.1179	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320148	0.23994	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99	5.44	2.39	0.29439	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.211589	0.48767	D	0.000171	T	0.02807	0.0084	N	0.16233	0.39	0.31320	N	0.68611	P;P	0.41188	0.741;0.741	B;B	0.42462	0.388;0.388	T	0.26538	-1.0100	10	0.62326	D	0.03	.	4.6923	0.12786	0.2704:0.525:0.1312:0.0733	.	393;393	E9PC84;P24821	.;TENA_HUMAN	D	393	ENSP00000344400:E393D;ENSP00000438152:E393D;ENSP00000344555:E393D;ENSP00000345861:E393D;ENSP00000265131:E393D;ENSP00000339553:E393D;ENSP00000411406:E393D;ENSP00000443478:E393D;ENSP00000442242:E393D	ENSP00000344400:E393D	E	-	3	2	TNC	116888652	0.000000	0.05858	0.959000	0.39883	0.001000	0.01503	-0.780000	0.04654	0.767000	0.33267	-1.278000	0.01390	GAG	TNC	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117848831	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.996	A	A	117848831	C	A	117848831	3	1	49	1	0	0	0	0	1	0	0	0	16300	564	20	4	5530	4	TNC	9	117848831	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	15948489	117848831	23364600	71	6569										
LRRC8A	56262	genome.wustl.edu	37	chr9	131670859	131670859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcccagctcacgggcctcaaGgagctgtggctctaccacac	11	16	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr9:131670859G>T	ENST00000259324.5	+	3	1939	c.1416G>T	c.(1414-1416)aaG>aaT	p.K472N	LRRC8A_ENST00000372600.4_Missense_Mutation_p.K472N|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K472N	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	472					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGGGCCTCAAGGAGCTGTGGC	0.622																																																	0													19	19	19					9																	131670859		2196	4279	6475	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1416G>T	9.37:g.131670859G>T	ENSP00000259324:p.Lys472Asn		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K472N	ENST00000259324.5	37	c.1416	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	9.672	1.146940	0.21288	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.19806	2.12;2.12;2.12	5.51	4.6	0.57074	.	0.166640	0.50627	D	0.000111	T	0.20210	0.0486	L	0.58810	1.83	0.46954	D	0.999261	B	0.12013	0.005	B	0.11329	0.006	T	0.06303	-1.0834	10	0.56958	D	0.05	.	6.4737	0.22024	0.1479:0.0:0.7002:0.1519	.	472	Q8IWT6	LRC8A_HUMAN	N	472	ENSP00000361682:K472N;ENSP00000361680:K472N;ENSP00000259324:K472N	ENSP00000259324:K472N	K	+	3	2	LRRC8A	130710680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.481000	0.35476	1.295000	0.44724	0.561000	0.74099	AAG	LRRC8A	-	NULL		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	G	NM_019594		131670859	1	no_errors	ENST00000259324	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131670859	G	T	131670859	3	4	49	1	0	0	0	0	1	0	0	0	9044	991	35	4	1418	4	LRRC8A	9	131670859	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	13822028	131670859	9542572	72	6570										
AKR1C2	1646	genome.wustl.edu	37	chr10	5040883	5040883	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atctccagcagcctgtggttGaagttggacaccccgatgga	12	11	1	1	rs141584971		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:5040883G>C	ENST00000380753.4	-	5	691	c.504C>G	c.(502-504)ttC>ttG	p.F168L	RP11-499O7.7_ENST00000440414.1_RNA|RP11-499O7.7_ENST00000451575.2_RNA|AKR1C2_ENST00000407674.1_Missense_Mutation_p.F168L|AKR1C2_ENST00000421196.3_Missense_Mutation_p.F142L	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	168					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	GCCTGTGGTTGAAGTTGGACA	0.517																																																	0													165	140	148					10																	5040883		2203	4300	6503	SO:0001583	missense	1646			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"Aldo-keto reductases"	385	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"	600450	"aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)", "testicular 17,20-desmolase deficiency"	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.504C>G	10.37:g.5040883G>C	ENSP00000370129:p.Phe168Leu		A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.F168L	ENST00000380753.4	37	c.504	CCDS7062.1	10	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306044	0.40795	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674	T;T;T	0.55234	0.53;0.53;0.53	2.65	-3.98	0.04082	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000003	T	0.71576	0.3356	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72858	-0.4165	10	0.87932	D	0	.	10.3785	0.44096	0.239:0.0:0.761:0.0	.	142;168	B4DK69;P52895	.;AK1C2_HUMAN	L	168;142;168	ENSP00000370129:F168L;ENSP00000392694:F142L;ENSP00000385221:F168L	ENSP00000370129:F168L	F	-	3	2	AKR1C2	5030883	1.000000	0.71417	0.940000	0.37924	0.301000	0.27625	0.680000	0.25306	-1.001000	0.03434	-0.481000	0.04817	TTC	AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.517	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	G	NM_001354		5040883	-1	no_errors	ENST00000380753	ensembl	human	known	70_37	missense	SNP	0.988	C	C	5040883	G	C	5040883	3	2	49	1	0	0	0	0	1	0	0	0	470	1281	45	1	487	1	AKR1C2	10	5040883	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		5040883	130493864	73	6571										
NEBL	10529	genome.wustl.edu	37	chr10	21141488	21141488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtgtacctgactttggaggaCggcattgcctttatggtgca	13	8	0	1	rs150518045	byFrequency	TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:21141488C>T	ENST00000377122.4	-	10	1390	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	332					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTGGAGGACGGCATTGCCT	0.493													T|||	5	0.000998403	0.0038	0	5008	,	,		14948	0		0	False		,,,				2504	0																0								T	,ILE/VAL,	10,4396	825.3+/-416.5	0,10,2193	148	105	120		,994,	3.7	0.4	10	dbSNP_134	120	1,8599	819.2+/-406.8	0,1,4299	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,29,	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	,benign,	,332/1015,	21141488	11,12995	2203	4300	6503	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.994G>A	10.37:g.21141488C>T	ENSP00000366326:p.Val332Ile		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.V332I	ENST00000377122.4	37	c.994	CCDS7134.1	10	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429453	0.25726	0.00227	1.16E-4	ENSG00000078114	ENST00000377122	T	0.43294	0.95	5.98	3.65	0.41850	.	0.856064	0.10521	N	0.664980	T	0.31420	0.0796	L	0.34521	1.04	0.20703	N	0.999866	B	0.09022	0.002	B	0.08055	0.003	T	0.23619	-1.0183	10	0.35671	T	0.21	.	7.7114	0.28679	0.0:0.3891:0.0:0.6109	.	332	O76041	NEBL_HUMAN	I	332	ENSP00000366326:V332I	ENSP00000366326:V332I	V	-	1	0	NEBL	21181494	0.235000	0.23794	0.373000	0.26003	0.661000	0.39034	0.627000	0.24506	0.494000	0.27859	-0.269000	0.10298	GTC	NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.493	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	C	NM_006393		21141488	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	missense	SNP	0.197	T	T	21141488	C	T	21141488	3	4	49	1	0	0	0	0	1	0	0	0	10327	536	19	2	2126	2	NEBL	10	21141488	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	16100605	21141488	114393259	74	6572										
HTR7	3363	genome.wustl.edu	37	chr10	92508968	92508968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttttcctttcatgcttgaggAgtctcgaaaggtttgcacac	9	9	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:92508968A>G	ENST00000336152.3	-	2	949	c.923T>C	c.(922-924)cTc>cCc	p.L308P	HTR7_ENST00000371719.2_Missense_Mutation_p.L308P|HTR7_ENST00000371721.3_Missense_Mutation_p.L308P|HTR7_ENST00000277874.6_Missense_Mutation_p.L308P	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	308					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATGCTTGAGGAGTCTCGAAAG	0.537																																																	0													85	69	75					10																	92508968		2203	4300	6503	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.923T>C	10.37:g.92508968A>G	ENSP00000337949:p.Leu308Pro		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.L308P	ENST00000336152.3	37	c.923	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616347	0.46736	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.66995	-0.24;-0.2;-0.17;-0.24	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.171895	0.38663	N	0.001602	T	0.75576	0.3868	L	0.51853	1.615	0.80722	D	1	D;B	0.76494	0.999;0.113	D;B	0.71184	0.972;0.044	T	0.72030	-0.4413	10	0.22706	T	0.39	.	15.3243	0.74147	1.0:0.0:0.0:0.0	.	308;308	P34969;P34969-2	5HT7R_HUMAN;.	P	308	ENSP00000337949:L308P;ENSP00000277874:L308P;ENSP00000360784:L308P;ENSP00000360786:L308P	ENSP00000277874:L308P	L	-	2	0	HTR7	92498948	1.000000	0.71417	0.904000	0.35570	0.733000	0.41908	7.572000	0.82409	2.021000	0.59480	0.528000	0.53228	CTC	HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt		0.537	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	A	NM_000872		92508968	-1	no_errors	ENST00000336152	ensembl	human	known	70_37	missense	SNP	0.999	G	G	92508968	A	G	92508968	3	3	49	1	0	0	0	0	1	0	0	0	7472	304	11	5	532	5	HTR7	10	92508968	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	71367480	92508968	43025779	75	6573										
TM9SF3	56889	genome.wustl.edu	37	chr10	98336426	98336426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ccagaccactaaattccaatTcaaccccttgaagtgcttct	4	14	2	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr10:98336426T>C	ENST00000371142.4	-	2	479	c.263A>G	c.(262-264)gAa>gGa	p.E88G		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	88						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAATTCCAATTCAACCCCTTG	0.348																																																	0													127	130	129					10																	98336426		2203	4300	6503	SO:0001583	missense	56889			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.263A>G	10.37:g.98336426T>C	ENSP00000360184:p.Glu88Gly		Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	pfam_EMP70	p.E88G	ENST00000371142.4	37	c.263	CCDS7450.1	10	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987616	0.93106	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.46451	0.87;0.87	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.92219	3.285	0.80722	D	1	D	0.71674	0.998	D	0.63957	0.92	T	0.79157	-0.1919	10	0.87932	D	0	-21.3904	15.2037	0.73159	0.0:0.0:0.0:1.0	.	88	Q9HD45	TM9S3_HUMAN	G	88;44	ENSP00000360184:E88G;ENSP00000401152:E44G	ENSP00000360184:E88G	E	-	2	0	TM9SF3	98326416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.174000	0.68829	0.533000	0.62120	GAA	TM9SF3	-	pfam_EMP70		0.348	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF3	HGNC	protein_coding	OTTHUMT00000049610.2	T	NM_020123		98336426	-1	no_errors	ENST00000371142	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98336426	T	C	98336426	3	2	49	1	0	0	0	0	1	0	0	0	16009	1783	62	5	1562	5	TM9SF3	10	98336426	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	5827458	98336426	37198321	76	6574										
OR52R1	119695	genome.wustl.edu	37	chr11	4825165	4825165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gccctctcagcatcacgatgGtccccagtttgatcacgacc	8	16	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:4825165G>T	ENST00000356069.2	-	1	445	c.446C>A	c.(445-447)aCc>aAc	p.T149N	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.T228N|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCACGATGGTCCCCAGTTT	0.577																																																	0													102	88	93					11																	4825165		2201	4298	6499	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.446C>A	11.37:g.4825165G>T	ENSP00000348368:p.Thr149Asn		Q6IFI0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T228N	ENST00000356069.2	37	c.683	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224434	0.09863	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.38240	1.15;1.15	5.57	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	1.206380	0.06103	N	0.665805	T	0.32556	0.0833	L	0.52011	1.625	0.09310	N	1	B	0.31625	0.332	B	0.30495	0.116	T	0.36065	-0.9763	10	0.66056	D	0.02	.	4.6354	0.12521	0.2425:0.3709:0.3866:0.0	.	149	Q8NGF1	O52R1_HUMAN	N	149;228	ENSP00000348368:T149N;ENSP00000369742:T228N	ENSP00000348368:T149N	T	-	2	0	OR52R1	4781741	.	.	0.089000	0.20774	0.003000	0.03518	.	.	0.895000	0.36342	0.650000	0.86243	ACC	OR52R1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	HGNC	protein_coding	OTTHUMT00000142183.1	G	NM_001005177		4825165	-1	no_errors	ENST00000380382	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4825165	G	T	4825165	3	4	49	1	0	0	0	0	1	0	0	0	11155	1261	44	4	504	4	OR52R1	11	4825165	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		4825165	130181351	77	6575										
NLRP10	338322	genome.wustl.edu	37	chr11	7982282	7982282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	attcctcaaagccaggggccGggtggtgatgagaagggagc	17	8	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:7982282G>A	ENST00000328600.2	-	2	1038	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	293	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGGGGCCGGGTGGTGATG	0.537																																																	0													100	102	101					11																	7982282		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.877C>T	11.37:g.7982282G>A	ENSP00000327763:p.Arg293Trp		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R293W	ENST00000328600.2	37	c.877	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363850	0.41902	.	.	ENSG00000182261	ENST00000328600	D	0.87029	-2.2	5.24	4.28	0.50868	NACHT nucleoside triphosphatase (1);	0.226724	0.22848	N	0.054881	D	0.93657	0.7974	M	0.88241	2.94	0.34865	D	0.743039	D	0.89917	1.0	D	0.97110	1.0	D	0.95937	0.8943	10	0.87932	D	0	.	11.7557	0.51874	0.0:0.0:0.8247:0.1753	.	293	Q86W26	NAL10_HUMAN	W	293	ENSP00000327763:R293W	ENSP00000327763:R293W	R	-	1	2	NLRP10	7938858	0.175000	0.23083	0.878000	0.34440	0.052000	0.14988	0.364000	0.20325	2.631000	0.89168	0.650000	0.86243	CGG	NLRP10	-	pfscan_NACHT_NTPase		0.537	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	G	NM_176821		7982282	-1	no_errors	ENST00000328600	ensembl	human	known	70_37	missense	SNP	0.916	A	A	7982282	G	A	7982282	3	1	49	1	0	0	0	0	1	0	0	0	10496	1115	39	2	1094	2	NLRP10	11	7982282	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	3157117	7982282	127024234	78	6576										
FOLH1	2346	genome.wustl.edu	37	chr11	49221981	49221981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gttcctgctaaatgtggtatCtgtgtaaaattactggtgaa	10	5	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:49221981C>G	ENST00000256999.2	-	3	497	c.237G>C	c.(235-237)caG>caC	p.Q79H	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q64H|FOLH1_ENST00000340334.7_Missense_Mutation_p.Q64H|FOLH1_ENST00000356696.3_Missense_Mutation_p.Q79H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	79					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATGTGGTATCTGTGTAAAAT	0.333																																																	0													69	67	68					11																	49221981		2201	4297	6498	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.237G>C	11.37:g.49221981C>G	ENSP00000256999:p.Gln79His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Q79H	ENST00000256999.2	37	c.237	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896788	0.33535	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.6	2.73	0.32206	.	0.280795	0.25180	N	0.032526	T	0.33673	0.0871	L	0.39245	1.2	0.58432	D	0.999999	P;B;B;B;B	0.39094	0.659;0.004;0.006;0.238;0.042	B;B;B;B;B	0.41440	0.357;0.01;0.008;0.357;0.078	T	0.10019	-1.0648	10	0.66056	D	0.02	.	5.9943	0.19485	0.0:0.6876:0.0:0.3124	.	64;64;64;79;79	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	H	79;79;64;64;79;22	ENSP00000256999:Q79H;ENSP00000349129:Q79H;ENSP00000344131:Q64H;ENSP00000431463:Q64H;ENSP00000431577:Q22H	ENSP00000256999:Q79H	Q	-	3	2	FOLH1	49178557	0.000000	0.05858	0.994000	0.49952	0.987000	0.75469	-0.191000	0.09601	0.570000	0.29347	0.508000	0.49915	CAG	FOLH1	-	NULL		0.333	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	C	NM_004476		49221981	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	missense	SNP	0.969	G	G	49221981	C	G	49221981	3	3	49	1	0	0	0	0	1	0	0	0	5997	912	32	1	2083	1	FOLH1	11	49221981	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	41239699	49221981	85784535	79	6577										
OR6Q1	219952	genome.wustl.edu	37	chr11	57799099	57799099	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gctgtgtcctatggcaacatCgtctggacactgctgcacat	10	12	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:57799099C>T	ENST00000302622.3	+	1	698	c.675C>T	c.(673-675)atC>atT	p.I225I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGGCAACATCGTCTGGACAC	0.557																																																	0													186	151	163					11																	57799099		2201	4296	6497	SO:0001819	synonymous_variant	219952			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.675C>T	11.37:g.57799099C>T			B9EKW1|Q6IFH1|Q96R34	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I225	ENST00000302622.3	37	c.675	CCDS31541.1	11																																																																																			OR6Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Q1	HGNC	protein_coding	OTTHUMT00000401257.1	C	NM_001005186		57799099	1	no_errors	ENST00000302622	ensembl	human	known	70_37	silent	SNP	0.000	T	T	57799099	C	T	57799099	2	4	49	1	0	0	0	0	0	0	0	1	11232	874	31	1		1	OR6Q1	11	57799099	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	8577118	57799099	77207417	80	6578										
ZDHHC24	254359	genome.wustl.edu	37	chr11	66311238	66311238	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtggaggggcgtgtgggctcGcagcagggccgacagtgcag	21	9	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:66311238G>A	ENST00000310442.3	-	2	730	c.496C>T	c.(496-498)Cga>Tga	p.R166*	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Nonsense_Mutation_p.R166*|ACTN3_ENST00000502692.1_RNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	166	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GTGTGGGCTCGCAGCAGGGCC	0.682											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27	27	27					11																	66311238		2194	4290	6484	SO:0001587	stop_gained	254359			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.496C>T	11.37:g.66311238G>A	ENSP00000309429:p.Arg166*	1090	Q6PEW7|Q9BSJ0	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R166*	ENST00000310442.3	37	c.496	CCDS8143.1	11	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032516	0.93575	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	.	.	.	3.91	3.91	0.45181	.	0.500271	0.19924	N	0.103025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-1.6392	11.2834	0.49208	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000309429:R166X	R	-	1	2	ZDHHC24	66067814	0.985000	0.35326	0.887000	0.34795	0.747000	0.42532	2.612000	0.46343	2.027000	0.59764	0.462000	0.41574	CGA	ZDHHC24	-	NULL		0.682	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC24	HGNC	protein_coding	OTTHUMT00000393089.1	G	NM_207340		66311238	-1	no_errors	ENST00000310442	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	66311238	G	A	66311238	4	1	49	1	0	0	0	0	0	1	0	0	17645	1095	38	2	366	2	ZDHHC24	11	66311238	Nonsense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	8512139	66311238	68695278	81	6579										
SPTBN2	6712	genome.wustl.edu	37	chr11	66468011	66468011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tttcacctggctgctgagcaCgccctcagcctgacgagcat	10	15	2	2	rs369739429		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:66468011C>T	ENST00000533211.1	-	17	3890	c.3559G>A	c.(3559-3561)Gtg>Atg	p.V1187M	SPTBN2_ENST00000309996.2_Missense_Mutation_p.V1187M|SPTBN2_ENST00000529997.1_Missense_Mutation_p.V1187M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1187					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCTGAGCACGCCCTCAGCC	0.642																																																	0								C	MET/VAL	0,4400		0,0,2200	29	35	33		3559	4.7	0.2	11		33	1,8587		0,1,4293	no	missense	SPTBN2	NM_006946.2	21	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1187/2391	66468011	1,12987	2200	4294	6494	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3559G>A	11.37:g.66468011C>T	ENSP00000432568:p.Val1187Met		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.V1187M	ENST00000533211.1	37	c.3559	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234512	0.39498	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50277	0.75;0.75;0.75	4.65	4.65	0.58169	.	0.069316	0.64402	D	0.000012	T	0.42988	0.1227	N	0.20685	0.6	0.39942	D	0.974428	D	0.69078	0.997	P	0.53760	0.734	T	0.37079	-0.9721	10	0.40728	T	0.16	.	11.6516	0.51292	0.1778:0.8222:0.0:0.0	.	1187	O15020	SPTN2_HUMAN	M	1187	ENSP00000432568:V1187M;ENSP00000311489:V1187M;ENSP00000433593:V1187M	ENSP00000311489:V1187M	V	-	1	0	SPTBN2	66224587	0.845000	0.29573	0.221000	0.23827	0.631000	0.37964	1.737000	0.38197	2.406000	0.81754	0.491000	0.48974	GTG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66468011	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	0.988	T	T	66468011	C	T	66468011	3	4	49	1	0	0	0	0	1	0	0	0	15150	536	19	2	3701	2	SPTBN2	11	66468011	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	156773	66468011	68538505	82	6580										
NDUFV1	4723	genome.wustl.edu	37	chr11	67378032	67378032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcctgaagccccccttccccGcagacgtgggtaaggcctgg	13	16	0	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:67378032G>T	ENST00000322776.6	+	5	844	c.691G>T	c.(691-693)Gca>Tca	p.A231S	NDUFV1_ENST00000415352.2_Missense_Mutation_p.A224S|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.A222S|NDUFV1_ENST00000532303.1_Missense_Mutation_p.A130S	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	231					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CCCCTTCCCCGCAGACGTGGG	0.622																																																	0													40	39	39					11																	67378032		2200	4294	6494	SO:0001583	missense	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.691G>T	11.37:g.67378032G>T	ENSP00000322450:p.Ala231Ser		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.A231S	ENST00000322776.6	37	c.691	CCDS8173.1	11	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699279	0.68501	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000415352	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	4.72	4.72	0.59763	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.992;0.992;1.0	D	0.95466	0.8547	10	0.72032	D	0.01	-13.0862	16.3989	0.83632	0.0:0.0:1.0:0.0	.	130;224;222;231	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	S	231;130;130;222;224	ENSP00000322450:A231S;ENSP00000432015:A130S;ENSP00000435202:A130S;ENSP00000436766:A222S;ENSP00000395368:A224S	ENSP00000322450:A231S	A	+	1	0	NDUFV1	67134608	1.000000	0.71417	0.085000	0.20634	0.132000	0.20833	9.474000	0.97718	2.437000	0.82529	0.561000	0.74099	GCA	NDUFV1	-	pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF		0.622	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	G	NM_007103		67378032	1	no_errors	ENST00000322776	ensembl	human	known	70_37	missense	SNP	0.997	T	T	67378032	G	T	67378032	3	4	49	1	0	0	0	0	1	0	0	0	10323	1087	38	2	709	2	NDUFV1	11	67378032	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	910021	67378032	67628484	83	6581										
TBX10	347853	genome.wustl.edu	37	chr11	67402529	67402529	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aattcctcccacagaggcttCatctccagctgaactgtcac	6	15	3	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:67402529C>T	ENST00000335385.3	-	2	300	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	71					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACAGAGGCTTCATCTCCAGCT	0.647																																																	0													53	48	50					11																	67402529		2200	4294	6494	SO:0001583	missense	347853			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.213G>A	11.37:g.67402529C>T	ENSP00000335191:p.Met71Ile		Q14D64|Q86XS3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.M71I	ENST00000335385.3	37	c.213	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671631	0.67928	.	.	ENSG00000167800	ENST00000335385	D	0.89485	-2.52	4.55	4.55	0.56014	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.94016	0.8083	M	0.84433	2.695	0.53005	D	0.999964	P	0.52842	0.956	P	0.60682	0.878	D	0.94285	0.7523	10	0.49607	T	0.09	.	16.2283	0.82315	0.0:1.0:0.0:0.0	.	71	O75333	TBX10_HUMAN	I	71	ENSP00000335191:M71I	ENSP00000335191:M71I	M	-	3	0	TBX10	67159105	0.999000	0.42202	1.000000	0.80357	0.490000	0.33462	3.619000	0.54196	2.366000	0.80165	0.462000	0.41574	ATG	TBX10	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	C	NM_005995		67402529	-1	no_errors	ENST00000335385	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67402529	C	T	67402529	3	4	49	1	0	0	0	0	1	0	0	0	15681	826	29	1	972	1	TBX10	11	67402529	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	24497	67402529	67603987	84	6582										
GAL	51083	genome.wustl.edu	37	chr11	68453095	68453095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gaggctggaccctgaacagcGcgggctacctgctgggccca	15	14	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:68453095G>A	ENST00000265643.3	+	3	373	c.115G>A	c.(115-117)Gcg>Acg	p.A39T		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	39					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CCTGAACAGCGCGGGCTACCT	0.632																																																	0													76	62	67					11																	68453095		2200	4294	6494	SO:0001583	missense	51083			L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"Endogenous ligands"	4114	protein-coding gene	gene with protein product	"galanin-message-associated peptide", "galanin/GMAP prepropeptide"	137035	"galanin", "galanin prepropeptide"	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.115G>A	11.37:g.68453095G>A	ENSP00000265643:p.Ala39Thr		Q14413	Missense_Mutation	SNP	pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin	p.A39T	ENST00000265643.3	37	c.115	CCDS8183.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121482	0.77436	.	.	ENSG00000069482	ENST00000265643	T	0.60171	0.21	3.36	3.36	0.38483	Galanin (4);	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.78801	2.425	0.37620	D	0.921254	D	0.89917	1.0	D	0.87578	0.998	T	0.78863	-0.2036	10	0.87932	D	0	-32.7007	10.0888	0.42434	0.0:0.0:1.0:0.0	.	39	P22466	GALA_HUMAN	T	39	ENSP00000265643:A39T	ENSP00000265643:A39T	A	+	1	0	GAL	68209671	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	5.020000	0.64066	1.709000	0.51313	0.561000	0.74099	GCG	GAL	-	pfam_Galanin,smart_Galanin_pre,prints_Galanin		0.632	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL	HGNC	protein_coding	OTTHUMT00000396843.2	G	NM_001479		68453095	1	no_errors	ENST00000265643	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68453095	G	A	68453095	3	1	49	1	0	0	0	0	1	0	0	0	6215	1087	38	2	121	2	GAL	11	68453095	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	1050566	68453095	66553421	85	6583										
GUCY1A2	2977	genome.wustl.edu	37	chr11	106681012	106681012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ctttaatttatccatcctttTcttcaacccatcttgggcct	3	13	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:106681012T>C	ENST00000526355.2	-	5	1867	c.1399A>G	c.(1399-1401)Aaa>Gaa	p.K467E	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K488E|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K467E	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	467					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TCCATCCTTTTCTTCAACCCA	0.458																																																	0													120	122	122					11																	106681012		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1399A>G	11.37:g.106681012T>C	ENSP00000431245:p.Lys467Glu		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K467E	ENST00000526355.2	37	c.1399	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424857	0.83667	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88586	-2.4;-2.4;-2.4	5.47	5.47	0.80525	Haem NO binding associated (1);	0.000000	0.47093	U	0.000252	D	0.91157	0.7215	L	0.45581	1.43	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.64410	0.925;0.92;0.925	D	0.89347	0.3658	10	0.25751	T	0.34	.	14.7305	0.69377	0.0:0.0:0.0:1.0	.	488;467;467	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	E	467;467;488	ENSP00000431245:K467E;ENSP00000282249:K467E;ENSP00000344874:K488E	ENSP00000282249:K467E	K	-	1	0	GUCY1A2	106186222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.071000	0.62044	0.528000	0.53228	AAA	GUCY1A2	-	pfam_Haem_no_assoc-bd		0.458	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	T			106681012	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	C	C	106681012	T	C	106681012	3	2	49	1	0	0	0	0	1	0	0	0	6913	1792	62	5	815	5	GUCY1A2	11	106681012	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	38227917	106681012	28325504	86	6584										
ROBO3	64221	genome.wustl.edu	37	chr11	124740508	124740508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtggagcaggtatgagatccGgagtgaccacagcctttgga	15	8	0	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr11:124740508G>A	ENST00000397801.1	+	6	1109	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	ROBO3_ENST00000538940.1_Missense_Mutation_p.R284Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	306	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.R306Q(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TATGAGATCCGGAGTGACCAC	0.592																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)											45	50	48					11																	124740508		2119	4221	6340	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.917G>A	11.37:g.124740508G>A	ENSP00000380903:p.Arg306Gln			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R306Q	ENST00000397801.1	37	c.917	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266382	0.40095	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.66995	-0.24;-0.24	4.21	3.3	0.37823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.243972	0.21280	N	0.077164	T	0.37183	0.0994	N	0.05351	-0.065	0.80722	D	1	B	0.21753	0.06	B	0.18871	0.023	T	0.10042	-1.0647	10	0.12766	T	0.61	.	3.8875	0.09105	0.1882:0.0:0.512:0.2998	.	306	Q96MS0	ROBO3_HUMAN	Q	306;284	ENSP00000380903:R306Q;ENSP00000441797:R284Q	ENSP00000380903:R306Q	R	+	2	0	ROBO3	124245718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.360000	0.44151	1.124000	0.41980	0.462000	0.41574	CGG	ROBO3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.592	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	G	XM_370663		124740508	1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124740508	G	A	124740508	3	1	49	1	0	0	0	0	1	0	0	0	13545	1116	39	2	939	2	ROBO3	11	124740508	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	18059496	124740508	10266008	87	6585										
ATF7IP	55729	genome.wustl.edu	37	chr12	14577801	14577802	+	Frame_Shift_Ins	INS	-	-	A													0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	taaagatgatgattttcttgINSaaaaaaatggagctgatgaa							TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:14577801_14577802insA	ENST00000540793.1	+	1	1107_1108	c.952_953insA	c.(952-954)gaafs	p.E318fs	ATF7IP_ENST00000543189.1_Frame_Shift_Ins_p.E318fs|ATF7IP_ENST00000544627.1_Frame_Shift_Ins_p.E326fs|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Frame_Shift_Ins_p.E318fs|ATF7IP_ENST00000261168.4_Frame_Shift_Ins_p.E318fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	318					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGATTTTCTTGAAAAAAATGGA	0.317																																																	0																																										SO:0001589	frameshift_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.959dupA	12.37:g.14577808_14577808dupA	ENSP00000444589:p.Glu318fs		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Ins	INS	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.N320fs	ENST00000540793.1	37	c.952_953	CCDS8663.1	12																																																																																			ATF7IP	-	NULL		0.317	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	NM_018179		14577802	1	no_errors	ENST00000261168	ensembl	human	known	70_37	frame_shift_ins	INS	0.416:0.322	A	A	14577802	-	A	14577801	7	5	49	1	0	1	1	0	0	0	0	0	1088	1291	45	0	954	0	ATF7IP	12	14577801	Frame_Shift_Ins	INS	-	TCGA-C5-A7UE-01A-11D-A33O-09		14577801	119274094	88	6586										
SLCO1A2	6579	genome.wustl.edu	37	chr12	21448654	21448655	+	Missense_Mutation	DNP	GT	GT	TA													0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgtgggcagcttgtttgacaGtaatcttgaacttcttcata							TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:21448654_21448655GT>TA	ENST00000307378.6	-	11	1867_1868	c.1147_1148AC>TA	c.(1147-1149)ACt>TAt	p.T383Y	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.T381Y|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T383Y|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T251Y|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T251Y	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	383					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTGTTTGACAGTAATCTTGAAC	0.282																																																	0																																										SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1147_1148delinsTA	12.37:g.21448654_21448655delinsTA	ENSP00000305974:p.Thr383Tyr		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.T383N|p.T383S	ENST00000307378.6	37	c.1148|c.1147	CCDS8686.1	12																																																																																			SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.282	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	G|T	NM_021094		21448654|21448655	-1	no_errors	ENST00000307378	ensembl	human	known	70_37	missense	SNP	0.986|0.993	T|A	TA	21448655	GT	TA	21448654	3	4	49	1	0	0	0	0	1	0	0	0	14752	1029	36	4	888	4	SLCO1A2	12	21448654	Missense_Mutation	DNP	GT	TCGA-C5-A7UE-01A-11D-A33O-09	6870853	21448654	112403241	89	6587										
SCN8A	6334	genome.wustl.edu	37	chr12	52168096	52168096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	agtggacagcctatggcttcGtcaagttcttcaccaatgcc	9	12	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:52168096G>A	ENST00000354534.6	+	20	3947	c.3769G>A	c.(3769-3771)Gtc>Atc	p.V1257I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1257I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1257					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTATGGCTTCGTCAAGTTCTT	0.493																																																	0													198	198	198					12																	52168096		2198	4300	6498	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3769G>A	12.37:g.52168096G>A	ENSP00000346534:p.Val1257Ile		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V1257I	ENST00000354534.6	37	c.3769	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698271	0.88830	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.97303	-4.33;-4.33;-4.33	5.04	5.04	0.67666	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	N	0.16098	0.37	0.58432	D	0.999998	P;P	0.44260	0.74;0.83	B;B	0.32805	0.115;0.153	D	0.93522	0.6862	10	0.87932	D	0	.	18.9657	0.92695	0.0:0.0:1.0:0.0	.	1257;1257	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	I	1257;1257;1257;1170	ENSP00000346534:V1257I;ENSP00000440360:V1257I;ENSP00000347255:V1257I	ENSP00000346534:V1257I	V	+	1	0	SCN8A	50454363	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.570000	0.60872	2.786000	0.95864	0.561000	0.74099	GTC	SCN8A	-	pfam_Ion_trans_dom		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52168096	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52168096	G	A	52168096	3	1	49	1	0	0	0	0	1	0	0	0	13954	1145	40	2	3843	2	SCN8A	12	52168096	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	30719442	52168096	81683799	90	6588										
CALCOCO1	57658	genome.wustl.edu	37	chr12	54115830	54115830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttgtactgttccatcagctcCgtgtgctcctgcctggcagt	10	13	1	0	rs144845004		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:54115830C>T	ENST00000550804.1	-	5	648	c.588G>A	c.(586-588)acG>acA	p.T196T	CALCOCO1_ENST00000262059.4_Silent_p.T196T|CALCOCO1_ENST00000430117.2_Silent_p.T163T|CALCOCO1_ENST00000548263.1_Silent_p.T196T|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	196					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCTCCGTGTGCTCCT	0.602																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	76	62	67		489,588	-9.4	0	12	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CALCOCO1	NM_001143682.1,NM_020898.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	163/607,196/692	54115830	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.588G>A	12.37:g.54115830C>T			B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	pfam_CoCoA	p.T196	ENST00000550804.1	37	c.588	CCDS8864.1	12																																																																																			CALCOCO1	-	pfam_CoCoA		0.602	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54115830	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	silent	SNP	0.000	T	T	54115830	C	T	54115830	2	4	49	1	0	0	0	0	0	0	0	1	2582	639	23	2		2	CALCOCO1	12	54115830	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	1947734	54115830	79736065	91	6589										
OR6C74	254783	genome.wustl.edu	37	chr12	55641611	55641611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	catttcttctgtgatgtttcTcctatactgcagctctcttg	6	11	4	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:55641611T>C	ENST00000343870.4	+	1	630	c.540T>C	c.(538-540)tcT>tcC	p.S180S		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GTGATGTTTCTCCTATACTGC	0.438																																																	0													90	83	85					12																	55641611		2203	4300	6503	SO:0001819	synonymous_variant	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.540T>C	12.37:g.55641611T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S180	ENST00000343870.4	37	c.540	CCDS31816.1	12																																																																																			OR6C74	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	T			55641611	1	no_errors	ENST00000343870	ensembl	human	known	70_37	silent	SNP	0.274	C	C	55641611	T	C	55641611	2	2	49	1	0	0	0	0	0	0	0	1	11222	1538	54	5		5	OR6C74	12	55641611	Silent	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	1525781	55641611	78210284	92	6590										
TMTC3	160418	genome.wustl.edu	37	chr12	88560202	88560202	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttggttgttattaaatccttCagagctctgctgtgattgga	10	6	2	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:88560202C>A	ENST00000266712.6	+	7	1113	c.893C>A	c.(892-894)tCa>tAa	p.S298*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	298					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTAAATCCTTCAGAGCTCTGC	0.408																																																	0													192	184	187					12																	88560202		2203	4300	6503	SO:0001587	stop_gained	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.893C>A	12.37:g.88560202C>A	ENSP00000266712:p.Ser298*		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S298*	ENST00000266712.6	37	c.893	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.729122	0.97796	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.0827	18.9502	0.92638	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	ENSP00000266712:S298X	S	+	2	0	TMTC3	87084333	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	6.038000	0.70964	2.472000	0.83506	0.484000	0.47621	TCA	TMTC3	-	pfam_DUF1736		0.408	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	C	NM_181783		88560202	1	no_errors	ENST00000266712	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	88560202	C	A	88560202	4	1	49	1	0	0	0	0	0	1	0	0	16292	838	29	3	915	3	TMTC3	12	88560202	Nonsense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	32918591	88560202	45291693	93	6591										
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100452951	100452951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	catcccttcataatctatccAaaattgagaaaagtacacag	4	10	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:100452951A>G	ENST00000279907.7	-	14	2316	c.2104T>C	c.(2104-2106)Tgg>Cgg	p.W702R	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.W352R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	702										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAATCTATCCAAAATTGAGAA	0.363																																																	0													76	83	81					12																	100452951		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2104T>C	12.37:g.100452951A>G	ENSP00000279907:p.Trp702Arg		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.W702R	ENST00000279907.7	37	c.2104	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059364	0.55325	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.16196	2.44;2.36	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.30327	-0.9982	10	0.54805	T	0.06	-4.5418	16.1141	0.81289	1.0:0.0:0.0:0.0	.	702	A0JNW5	UH1BL_HUMAN	R	702;352	ENSP00000279907:W702R;ENSP00000444824:W352R	ENSP00000279907:W702R	W	-	1	0	UHRF1BP1L	98977082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.108000	0.94275	2.214000	0.71695	0.528000	0.53228	TGG	UHRF1BP1L	-	NULL		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	A	NM_001006947		100452951	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100452951	A	G	100452951	3	3	49	1	0	0	0	0	1	0	0	0	17000	130	5	5	2322	5	UHRF1BP1L	12	100452951	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	11892749	100452951	33398944	94	6592										
C12orf42	374470	genome.wustl.edu	37	chr12	103696329	103696329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gatggcagtggaaggtctggCggcagaacctggaaggcaaa	17	7	1	1	rs369075296		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:103696329C>T	ENST00000378113.2	-	6	865	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	C12orf42_ENST00000548883.1_Missense_Mutation_p.A214T|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.A147T	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	214										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GAAGGTCTGGCGGCAGAACCT	0.642																																																	0													24	27	26					12																	103696329		1978	4150	6128	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.640G>A	12.37:g.103696329C>T	ENSP00000367353:p.Ala214Thr		Q49A64|Q4G0S2	Missense_Mutation	SNP	NULL	p.A214T	ENST00000378113.2	37	c.640	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614359	0.46631	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.54866	0.55;0.55;0.55	4.24	-8.48	0.00935	.	3.946800	0.01078	N	0.004924	T	0.32224	0.0822	N	0.24115	0.695	0.09310	N	1	B	0.24618	0.107	B	0.13407	0.009	T	0.11227	-1.0596	10	0.33940	T	0.23	8.4401	6.3779	0.21517	0.0842:0.1132:0.5153:0.2873	.	214	Q96LP6	CL042_HUMAN	T	214;147;214	ENSP00000447908:A214T;ENSP00000449362:A147T;ENSP00000367353:A214T	ENSP00000367353:A214T	A	-	1	0	C12orf42	102220459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.243000	0.01194	-2.145000	0.00801	-1.051000	0.02340	GCC	C12orf42	-	NULL		0.642	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	C	NM_198521		103696329	-1	no_errors	ENST00000378113	ensembl	human	known	70_37	missense	SNP	0.000	T	T	103696329	C	T	103696329	3	4	49	1	0	0	0	0	1	0	0	0	1692	768	27	2	446	2	C12orf42	12	103696329	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	3243378	103696329	30155566	95	6593										
POLE	5426	genome.wustl.edu	37	chr12	133256810	133256810	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtttatagggcaaagccaccTgttaagagtcaccaacccat	8	11	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr12:133256810T>A	ENST00000320574.5	-	4	329		c.e4-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.?(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAAGCCACCTGTTAAGAGTC	0.468								DNA polymerases (catalytic subunits)																																									2	Unknown(2)	lung(2)											87	84	85					12																	133256810		2203	4300	6503	SO:0001630	splice_region_variant	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.286-2A>T	12.37:g.133256810T>A			Q13533|Q86VH9	Splice_Site	SNP	-	e4-2	ENST00000320574.5	37	c.319-2	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108502	0.77096	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131766883	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.678000	0.84035	2.106000	0.64143	0.460000	0.39030	.	POLE	-	-		0.468	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	T	NM_006231	Intron	133256810	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	133256810	T	A	133256810	5	1	49	1	0	0	0	0	0	0	1	0	12220	1594	55	5	6760	5	POLE	12	133256810	Splice_Site	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	29560481	133256810	595085	96	6594										
MLNR	2862	genome.wustl.edu	37	chr13	49795318	49795318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gagcagccggcggccgctgcGaggcccggccgcctcggggc	19	17	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr13:49795318G>A	ENST00000218721.1	+	1	845	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	MLNR_ENST00000398307.1_Missense_Mutation_p.R282Q	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	282					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGCCGCTGCGAGGCCCGGCC	0.701																																																	0													8	10	9					13																	49795318		2005	3891	5896	SO:0001583	missense	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.845G>A	13.37:g.49795318G>A	ENSP00000218721:p.Arg282Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R282Q	ENST00000218721.1	37	c.845	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	G	2.534	-0.307827	0.05458	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.37915	1.17;1.17	3.36	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.692070	0.13495	N	0.383739	T	0.15782	0.0380	N	0.25286	0.73	0.18873	N	0.999987	P	0.40398	0.716	B	0.25405	0.06	T	0.15838	-1.0423	10	0.13853	T	0.58	0.4047	7.878	0.29605	0.2091:0.0:0.7909:0.0	.	282	O43193	MTLR_HUMAN	Q	282	ENSP00000218721:R282Q;ENSP00000381352:R282Q	ENSP00000218721:R282Q	R	+	2	0	MLNR	48693319	0.000000	0.05858	0.175000	0.22980	0.163000	0.22366	0.281000	0.18810	0.144000	0.18951	0.462000	0.41574	CGA	MLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM		0.701	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	G	NM_001507		49795318	1	no_errors	ENST00000218721	ensembl	human	known	70_37	missense	SNP	0.939	A	A	49795318	G	A	49795318	3	1	49	1	0	0	0	0	1	0	0	0	9655	1058	37	1	847	1	MLNR	13	49795318	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		49795318	65374560	97	6595										
ARHGEF7	8874	genome.wustl.edu	37	chr13	111870159	111870159	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgtggaagagggaggctggtGggagggcacactcaacggcc	19	8	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr13:111870159G>A	ENST00000375741.2	+	6	915	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ARHGEF7_ENST00000317133.5_Nonsense_Mutation_p.W201*|ARHGEF7_ENST00000370623.3_Nonsense_Mutation_p.W129*|ARHGEF7_ENST00000375739.2_Nonsense_Mutation_p.W172*|ARHGEF7_ENST00000375736.4_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000375723.1_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000375737.5_Nonsense_Mutation_p.W119*|ARHGEF7_ENST00000218789.5_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000426073.2_Nonsense_Mutation_p.W44*|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	222	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGAGGCTGGTGGGAGGGCACA	0.587																																																	0													84	78	80					13																	111870159		2203	4300	6503	SO:0001587	stop_gained	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.665G>A	13.37:g.111870159G>A	ENSP00000364893:p.Trp222*		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.W222*	ENST00000375741.2	37	c.665	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	G	40	7.987706	0.98596	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2835	0.90105	0.0:0.0:1.0:0.0	.	.	.	.	X	201;222;172;44;129;199;44;44;44;44;44;119;119;44	.	ENSP00000218789:W44X	W	+	2	0	ARHGEF7	110668160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.326000	0.96389	2.366000	0.80165	0.655000	0.94253	TGG	ARHGEF7	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.587	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		G	NM_001113511		111870159	1	no_errors	ENST00000375741	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	111870159	G	A	111870159	4	1	49	1	0	0	0	0	0	1	0	0	911	1357	47	4	687	4	ARHGEF7	13	111870159	Nonsense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	62074841	111870159	3299719	98	6596										
C14orf106	55320	genome.wustl.edu	37	chr14	45711964	45711964	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	acaaaccaaaaatagtttacCgtaagttaaattgtgcagtg	7	6	0	0	rs368118272		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:45711964C>T	ENST00000310806.4	-	3	1116	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	220					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AATAGTTTACCGTAAGTTAAA	0.343																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	113	117	116		658	4.4	1	14		116	0,8600		0,0,4300	no	missense-near-splice	MIS18BP1	NM_018353.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	220/1133	45711964	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.658+1G>A	14.37:g.45711964C>T			D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E220K	ENST00000310806.4	37	c.658	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301945	0.81136	2.27E-4	0.0	ENSG00000129534	ENST00000310806	T	0.24723	1.84	4.43	4.43	0.53597	.	0.224052	0.37577	N	0.002037	T	0.31420	0.0796	L	0.29908	0.895	0.31301	N	0.688241	D	0.76494	0.999	P	0.58660	0.843	T	0.10683	-1.0619	9	.	.	.	-13.9168	12.7162	0.57117	0.0:1.0:0.0:0.0	.	220	Q6P0N0	M18BP_HUMAN	K	220	ENSP00000309790:E220K	.	E	-	1	0	MIS18BP1	44781714	0.991000	0.36638	0.998000	0.56505	0.741000	0.42261	3.303000	0.51858	2.454000	0.82982	0.585000	0.79938	GAA	MIS18BP1	-	NULL		0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	C		Missense_Mutation	45711964	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45711964	C	T	45711964	5	4	49	1	0	0	0	0	0	0	1	0	1742	666	23	2	2800	2	C14orf106	14	45711964	Splice_Site	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		45711964	61637576	99	6597										
C14orf39	317761	genome.wustl.edu	37	chr14	60945082	60945082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	catataatcttcatgtttacGaaaaacatcacatgttggct	5	8	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:60945082G>A	ENST00000321731.3	-	5	418	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	87					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATGTTTACGAAAAACATCA	0.269																																																	0													66	65	66					14																	60945082		2201	4297	6498	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.259C>T	14.37:g.60945082G>A	ENSP00000324920:p.Arg87Cys		Q08AQ4	Missense_Mutation	SNP	NULL	p.R87C	ENST00000321731.3	37	c.259	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739147	0.30774	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.46063	1.9;0.88	5.56	3.71	0.42584	.	0.424204	0.24945	N	0.034343	T	0.26048	0.0635	N	0.22421	0.69	0.25241	N	0.989758	D	0.54964	0.969	B	0.43123	0.409	T	0.10245	-1.0638	10	0.44086	T	0.13	-3.7283	4.8447	0.13507	0.1734:0.0:0.6546:0.172	.	87	Q8N1H7	S6OS1_HUMAN	C	87;58;87	ENSP00000324920:R87C;ENSP00000451665:R58C	ENSP00000324920:R87C	R	-	1	0	C14orf39	60014835	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.320000	0.43797	1.490000	0.48466	-0.142000	0.14014	CGT	C14orf39	-	NULL		0.269	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	G	NM_174978		60945082	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	60945082	G	A	60945082	3	1	49	1	0	0	0	0	1	0	0	0	1776	1058	37	1	1560	1	C14orf39	14	60945082	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	15233118	60945082	46404458	100	6598										
SYNE2	23224	genome.wustl.edu	37	chr14	64593093	64593093	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atttggataaaaaattgtttGaactattcctgaccctcagt	6	7	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:64593093G>A	ENST00000344113.4	+	72	13815	c.13603G>A	c.(13603-13605)Gaa>Aaa	p.E4535K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1169K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E920K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E920K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4535K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4486K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4535					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATTGTTTGAACTATTCCT	0.413																																																	0													70	72	71					14																	64593093		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13603G>A	14.37:g.64593093G>A	ENSP00000341781:p.Glu4535Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4535K	ENST00000344113.4	37	c.13603	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926303	0.52759	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.68765	0.71;4.02;0.72;-0.35;4.07;4.02	5.81	5.81	0.92471	.	0.367420	0.22510	N	0.059115	T	0.69287	0.3094	L	0.32530	0.975	0.80722	D	1	P;P;D	0.55385	0.837;0.952;0.971	B;P;P	0.53401	0.363;0.536;0.725	T	0.70238	-0.4927	10	0.54805	T	0.06	.	18.2644	0.90048	0.0:0.0:1.0:0.0	.	920;4535;4535	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4535;920;4535;4486;4486;1169;920	ENSP00000350719:E4535K;ENSP00000349969:E920K;ENSP00000341781:E4535K;ENSP00000452570:E4486K;ENSP00000450831:E1169K;ENSP00000378249:E920K	ENSP00000261678:E4486K	E	+	1	0	SYNE2	63662846	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	6.021000	0.70832	2.741000	0.93983	0.655000	0.94253	GAA	SYNE2	-	NULL		0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64593093	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64593093	G	A	64593093	3	1	49	1	0	0	0	0	1	0	0	0	15476	1291	45	1	13885	1	SYNE2	14	64593093	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	3648011	64593093	42756447	101	6599										
SPTB	6710	genome.wustl.edu	37	chr14	65268949	65268949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gttcccagggcataccctgcCgtcttcatctgacaccacaa	7	16	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr14:65268949C>T	ENST00000389721.5	-	4	593	c.561G>A	c.(559-561)acG>acA	p.T187T	SPTB_ENST00000389720.3_Silent_p.T187T|SPTB_ENST00000389722.3_Silent_p.T187T|SPTB_ENST00000542895.1_Silent_p.T187T|SPTB_ENST00000556626.1_Silent_p.T187T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	187	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATACCCTGCCGTCTTCATCT	0.547											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													159	114	129					14																	65268949		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.561G>A	14.37:g.65268949C>T		1082	Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T187	ENST00000389721.5	37	c.561	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	C			65268949	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	silent	SNP	0.105	T	T	65268949	C	T	65268949	2	4	49	1	0	0	0	0	0	0	0	1	15148	639	23	2		2	SPTB	14	65268949	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	675856	65268949	42080591	102	6600										
GLDN	342035	genome.wustl.edu	37	chr15	51696940	51696940	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgcagtttttgtcaactaccTtaaatcagtgatgtgctgca	8	8	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:51696940T>G	ENST00000335449.6	+	10	1701	c.1645T>G	c.(1645-1647)Tta>Gta	p.L549V	GLDN_ENST00000396399.2_Missense_Mutation_p.L425V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	549					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTCAACTACCTTAAATCAGTG	0.418																																																	0													99	109	106					15																	51696940		2196	4290	6486	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1645T>G	15.37:g.51696940T>G	ENSP00000335196:p.Leu549Val		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.L549V	ENST00000335449.6	37	c.1645	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	T	8.118	0.780337	0.16120	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91843	-2.92;-2.73	5.93	-0.759	0.11045	.	2.072700	0.02632	N	0.104476	D	0.83078	0.5176	N	0.22421	0.69	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.68957	-0.5272	10	0.15952	T	0.53	.	1.334	0.02141	0.1401:0.3144:0.1645:0.381	.	549	Q6ZMI3	GLDN_HUMAN	V	549;425;425	ENSP00000335196:L549V;ENSP00000379681:L425V	ENSP00000335196:L549V	L	+	1	2	GLDN	49484232	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.274000	0.08537	0.128000	0.18479	0.533000	0.62120	TTA	GLDN	-	NULL		0.418	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	T	NM_181789		51696940	1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	0.000	G	G	51696940	T	G	51696940	3	3	49	1	0	0	0	0	1	0	0	0	6453	1606	56	5	1683	5	GLDN	15	51696940	Missense_Mutation	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09		51696940	50834452	103	6601										
KIAA1370	56204	genome.wustl.edu	37	chr15	52892428	52892428	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttcaatgtttaaacatggtcGaggactattagaaaaacaaa	7	5	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:52892428G>C	ENST00000261844.7	-	9	2697	c.2545C>G	c.(2545-2547)Cga>Gga	p.R849G	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.R856G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	849																	AAACATGGTCGAGGACTATTA	0.368																																																	0													77	73	74					15																	52892428		1831	4079	5910	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2545C>G	15.37:g.52892428G>C	ENSP00000261844:p.Arg849Gly		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.R849G	ENST00000261844.7	37	c.2545	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410005	0.42715	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.32988	1.43;1.43	5.13	5.13	0.70059	.	0.485095	0.23949	N	0.042976	T	0.26629	0.0651	N	0.25647	0.755	0.49389	D	0.99978	B;B	0.27229	0.172;0.108	B;B	0.31547	0.132;0.062	T	0.05115	-1.0905	10	0.36615	T	0.2	.	16.7601	0.85509	0.0:0.0:1.0:0.0	.	856;849	F5H8G0;Q32MH5	.;K1370_HUMAN	G	849;849;848;856	ENSP00000261844:R849G;ENSP00000443598:R856G	ENSP00000261844:R849G	R	-	1	2	KIAA1370	50679720	1.000000	0.71417	0.931000	0.37212	0.993000	0.82548	4.683000	0.61679	2.391000	0.81399	0.557000	0.71058	CGA	FAM214A	-	NULL		0.368	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	G	NM_019600		52892428	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	0.987	C	C	52892428	G	C	52892428	3	2	49	1	0	0	0	0	1	0	0	0	8246	1066	37	1	705	1	KIAA1370	15	52892428	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	1195488	52892428	49638964	104	6602										
PRTG	283659	genome.wustl.edu	37	chr15	55972266	55972266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	acatacctaatacagttaaaGttgccatagcaactgtaaag	6	8	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:55972266G>A	ENST00000389286.4	-	6	1006	c.959C>T	c.(958-960)aCt>aTt	p.T320I	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TACAGTTAAAGTTGCCATAGC	0.398																																																	0													56	54	55					15																	55972266		1900	4112	6012	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.959C>T	15.37:g.55972266G>A	ENSP00000373937:p.Thr320Ile			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T320I	ENST00000389286.4	37	c.959	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717141	0.68844	.	.	ENSG00000166450	ENST00000389286	T	0.28895	1.59	5.78	5.78	0.91487	Immunoglobulin-like (1);	0.050732	0.85682	D	0.000000	T	0.38799	0.1054	N	0.20845	0.615	0.80722	D	1	D	0.69078	0.997	D	0.64321	0.924	T	0.04664	-1.0935	10	0.18276	T	0.48	-25.3102	19.3632	0.94451	0.0:0.0:1.0:0.0	.	320	Q2VWP7	PRTG_HUMAN	I	320	ENSP00000373937:T320I	ENSP00000373937:T320I	T	-	2	0	PRTG	53759558	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	5.881000	0.69706	2.894000	0.99253	0.591000	0.81541	ACT	PRTG	-	smart_Ig_sub,pfscan_Ig-like		0.398	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	G	NM_173814		55972266	-1	no_errors	ENST00000389286	ensembl	human	known	70_37	missense	SNP	0.997	A	A	55972266	G	A	55972266	3	1	49	1	0	0	0	0	1	0	0	0	12665	1029	36	4	2553	4	PRTG	15	55972266	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	3079838	55972266	46559126	105	6603										
SCAPER	49855	genome.wustl.edu	37	chr15	76994121	76994121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cttcttcatctgacagttcaCgcccctggatgctggtattc	8	13	4	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:76994121C>T	ENST00000563290.1	-	20	2581	c.2486G>A	c.(2485-2487)cGt>cAt	p.R829H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R829H|SCAPER_ENST00000538941.2_Missense_Mutation_p.R583H			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	829						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGACAGTTCACGCCCCTGGAT	0.368																																																	0													100	101	100					15																	76994121		1875	4120	5995	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2486G>A	15.37:g.76994121C>T	ENSP00000454973:p.Arg829His		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.R829H	ENST00000563290.1	37	c.2486	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796099	0.90453	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.28255	1.68;1.62	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.70016	0.902;0.967	T	0.59979	-0.7352	10	0.62326	D	0.03	.	19.3857	0.94555	0.0:1.0:0.0:0.0	.	828;583	Q9BY12;F5H7X8	SCAPE_HUMAN;.	H	829;583;851	ENSP00000326924:R829H;ENSP00000442190:R583H	ENSP00000303560:R851H	R	-	2	0	SCAPER	74781176	1.000000	0.71417	0.798000	0.32154	0.987000	0.75469	7.234000	0.78134	2.596000	0.87737	0.557000	0.71058	CGT	SCAPER	-	NULL		0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		76994121	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	0.999	T	T	76994121	C	T	76994121	3	4	49	1	0	0	0	0	1	0	0	0	13908	536	19	2	1768	2	SCAPER	15	76994121	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	21021855	76994121	25537271	106	6604										
AKAP13	11214	genome.wustl.edu	37	chr15	86123894	86123894	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gggatggggaataccagtctCacaggacttggtggagagca	16	7	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:86123894C>T	ENST00000394518.2	+	7	2690	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	AKAP13_ENST00000361243.2_Silent_p.L865L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	865					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATACCAGTCTCACAGGACTTG	0.567																																					Melanoma(94;603 1453 3280 32295 32951)												0													67	69	68					15																	86123894		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2595C>T	15.37:g.86123894C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L865	ENST00000394518.2	37	c.2595	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.567	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86123894	1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	0.001	T	T	86123894	C	T	86123894	2	4	49	1	0	0	0	0	0	0	0	1	449	813	29	1		1	AKAP13	15	86123894	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	9129773	86123894	16407498	107	6605										
C15orf42	90381	genome.wustl.edu	37	chr15	90129033	90129033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gatcctcactgtgtgccgcaCcaaggaggctgaatttcaac	10	12	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:90129033C>T	ENST00000268138.7	+	4	1376	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.T423I			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	424					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTGTGCCGCACCAAGGAGGCT	0.537																																																	0													88	89	88					15																	90129033		1978	4151	6129	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1271C>T	15.37:g.90129033C>T	ENSP00000268138:p.Thr424Ile		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.T424I	ENST00000268138.7	37	c.1271	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	5.385	0.256188	0.10185	.	.	ENSG00000140534	ENST00000268138	T	0.14893	2.47	5.24	1.0	0.19881	.	0.674977	0.15549	N	0.256510	T	0.13500	0.0327	L	0.44542	1.39	0.09310	N	1	B	0.19583	0.037	B	0.21151	0.033	T	0.20974	-1.0259	10	0.51188	T	0.08	-0.3008	6.6149	0.22771	0.0:0.6564:0.1319:0.2117	.	424	Q7Z2Z1	TICRR_HUMAN	I	424	ENSP00000268138:T424I	ENSP00000268138:T424I	T	+	2	0	C15orf42	87930037	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.045000	0.14013	0.318000	0.23185	0.637000	0.83480	ACC	TICRR	-	NULL		0.537	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90129033	1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.000	T	T	90129033	C	T	90129033	3	4	49	1	0	0	0	0	1	0	0	0	1800	507	18	4	1285	4	C15orf42	15	90129033	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	4005139	90129033	12402359	108	6606										
IQGAP1	8826	genome.wustl.edu	37	chr15	91043332	91043332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttctcaacaaaaagttctacGggaagtaattgatcgtttgc	8	7	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr15:91043332G>A	ENST00000268182.5	+	38	5090	c.4966G>A	c.(4966-4968)Ggg>Agg	p.G1656R	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G1084R	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1656	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAGTTCTACGGGAAGTAATT	0.433																																																	0													72	68	69					15																	91043332		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4966G>A	15.37:g.91043332G>A	ENSP00000268182:p.Gly1656Arg		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.G1656R	ENST00000268182.5	37	c.4966	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148587	0.78001	.	.	ENSG00000140575	ENST00000268182	T	0.02656	4.21	5.7	5.7	0.88788	.	0.166740	0.52532	D	0.000066	T	0.03783	0.0107	N	0.16743	0.435	0.80722	D	1	P;B	0.43024	0.798;0.37	P;B	0.47603	0.551;0.149	T	0.59573	-0.7429	10	0.07990	T	0.79	-15.6836	18.8318	0.92143	0.0:0.0:1.0:0.0	.	277;1656	B4DNP4;P46940	.;IQGA1_HUMAN	R	1656	ENSP00000268182:G1656R	ENSP00000268182:G1656R	G	+	1	0	IQGAP1	88844336	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.811000	0.86092	2.699000	0.92147	0.555000	0.69702	GGG	IQGAP1	-	NULL		0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		91043332	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91043332	G	A	91043332	3	1	49	1	0	0	0	0	1	0	0	0	7834	1116	39	2	5116	2	IQGAP1	15	91043332	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	914299	91043332	11488060	109	6607										
SOLH	6650	genome.wustl.edu	37	chr16	596889	596889	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cgctgcaccttcctgaacccGgccggccagcgccagtgctc	11	19	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr16:596889G>T	ENST00000219611.2	+	4	414	c.51G>T	c.(49-51)ccG>ccT	p.P17P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	17					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCCTGAACCCGGCCGGCCAGC	0.672																																																	0													22	20	21					16																	596889		2186	4285	6471	SO:0001819	synonymous_variant	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.51G>T	16.37:g.596889G>T			B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.P17	ENST00000219611.2	37	c.51	CCDS10410.1	16																																																																																			SOLH	-	smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	G	NM_005632		596889	1	no_errors	ENST00000219611	ensembl	human	known	70_37	silent	SNP	0.037	T	T	596889	G	T	596889	2	4	49	1	0	0	0	0	0	0	0	1	14955	1103	39	2		2	SOLH	16	596889	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		596889	89757864	110	6608										
CIITA	4261	genome.wustl.edu	37	chr16	11010239	11010239	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgcagcctggatgcgctgagTgagaacaagatcggggacga	16	8	0	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr16:11010239T>C	ENST00000324288.8	+	15	3118	c.2985T>C	c.(2983-2985)agT>agC	p.S995S	CIITA_ENST00000381835.5_Silent_p.S411S	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	995					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ATGCGCTGAGTGAGAACAAGA	0.622			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													57	45	49					16																	11010239		2197	4300	6497	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2985T>C	16.37:g.11010239T>C			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S995	ENST00000324288.8	37	c.2985	CCDS10544.1	16																																																																																			CIITA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	T	NM_000246		11010239	1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	0.841	C	C	11010239	T	C	11010239	2	2	49	1	0	0	0	0	0	0	0	1	3433	1693	59	5		5	CIITA	16	11010239	Silent	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	10413350	11010239	79344514	111	6609										
SLC6A2	6530	genome.wustl.edu	37	chr16	55725925	55725925	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcctccaatggcatcaatgcCtacctgcacatcgacttcta	6	15	2	0	rs202164492		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr16:55725925C>G	ENST00000379906.2	+	5	1134	c.879C>G	c.(877-879)gcC>gcG	p.A293A	SLC6A2_ENST00000414754.3_Silent_p.A293A|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000567238.1_Silent_p.A188A|SLC6A2_ENST00000219833.8_Silent_p.A293A|SLC6A2_ENST00000568943.1_Silent_p.A293A|SLC6A2_ENST00000561820.1_Silent_p.A293A	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	293					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCATCAATGCCTACCTGCACA	0.597																																																	0													138	97	111					16																	55725925		2198	4300	6498	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.879C>G	16.37:g.55725925C>G			B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.A293	ENST00000379906.2	37	c.879	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.597	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	C			55725925	1	no_errors	ENST00000219833	ensembl	human	known	70_37	silent	SNP	1.000	G	G	55725925	C	G	55725925	2	3	49	1	0	0	0	0	0	0	0	1	14713	668	24	4		4	SLC6A2	16	55725925	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	44715686	55725925	34628828	112	6610										
DNAH2	146754	genome.wustl.edu	37	chr17	7722330	7722330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	acagccacagaggtgactgaGcagctggagaccagtgagac	14	10	0	5			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:7722330G>T	ENST00000572933.1	+	71	12224	c.10764G>T	c.(10762-10764)gaG>gaT	p.E3588D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3588D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3588	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGACTGAGCAGCTGGAGA	0.607																																																	0													64	57	59					17																	7722330		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10764G>T	17.37:g.7722330G>T	ENSP00000458355:p.Glu3588Asp		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E3588D	ENST00000572933.1	37	c.10764	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408682	0.62399	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.55052	0.54	4.07	3.1	0.35709	.	0.073331	0.52532	D	0.000065	T	0.62672	0.2447	M	0.81942	2.565	0.80722	D	1	P;P	0.46621	0.881;0.81	P;P	0.52109	0.69;0.492	T	0.64210	-0.6461	10	0.52906	T	0.07	.	9.0268	0.36234	0.1056:0.0:0.8944:0.0	.	3549;3588	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3549;3588	ENSP00000373825:E3588D	ENSP00000353818:E3549D	E	+	3	2	DNAH2	7663055	1.000000	0.71417	0.989000	0.46669	0.797000	0.45037	1.779000	0.38624	0.919000	0.36945	0.462000	0.41574	GAG	DNAH2	-	NULL		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7722330	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7722330	G	T	7722330	3	4	49	1	0	0	0	0	1	0	0	0	4612	962	34	4	11042	4	DNAH2	17	7722330	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		7722330	73472880	113	6611										
NDEL1	81565	genome.wustl.edu	37	chr17	8349087	8349087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aaggaagcagagaattagaaGcagagttggaggcacaatta	13	4	0	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:8349087G>A	ENST00000334527.7	+	3	342	c.145G>A	c.(145-147)Gca>Aca	p.A49T	NDEL1_ENST00000299734.7_Missense_Mutation_p.A49T|NDEL1_ENST00000402554.3_Missense_Mutation_p.A49T|NDEL1_ENST00000585098.1_Missense_Mutation_p.A49T|NDEL1_ENST00000380025.4_Missense_Mutation_p.A49T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	49					activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						AGAATTAGAAGCAGAGTTGGA	0.418																																																	0													126	118	121					17																	8349087		2203	4300	6503	SO:0001583	missense	81565			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.145G>A	17.37:g.8349087G>A	ENSP00000333982:p.Ala49Thr		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	pfam_NUDE_C	p.A49T	ENST00000334527.7	37	c.145	CCDS11143.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929666	0.73327	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.53729	1.69	0.80722	D	1	P;P	0.40431	0.717;0.478	B;B	0.30782	0.12;0.078	T	0.51434	-0.8706	9	0.25751	T	0.34	-4.2835	19.3071	0.94167	0.0:0.0:1.0:0.0	.	49;49	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	T	49;49;104;49	.	ENSP00000299734:A49T	A	+	1	0	NDEL1	8289812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	2.793000	0.96121	0.563000	0.77884	GCA	NDEL1	-	NULL		0.418	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDEL1	HGNC	protein_coding	OTTHUMT00000226999.2	G	NM_030808		8349087	1	no_errors	ENST00000299734	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8349087	G	A	8349087	3	1	49	1	0	0	0	0	1	0	0	0	10268	971	34	4	151	4	NDEL1	17	8349087	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	626757	8349087	72846123	114	6612										
MYO15A	51168	genome.wustl.edu	37	chr17	18025307	18025307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggcccagcctctcatacccaCtggctgcgtgtgaccagacc	10	17	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:18025307C>A	ENST00000205890.5	+	2	3531	c.3193C>A	c.(3193-3195)Ctg>Atg	p.L1065M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1065					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCATACCCACTGGCTGCGTG	0.637																																																	0													94	100	98					17																	18025307		1989	4169	6158	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3193C>A	17.37:g.18025307C>A	ENSP00000205890:p.Leu1065Met		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L1065M	ENST00000205890.5	37	c.3193	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	c	13.60	2.286771	0.40494	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	5.08	4.11	0.48088	.	.	.	.	.	D	0.87977	0.6314	L	0.32530	0.975	0.80722	D	1	D	0.57571	0.98	P	0.55871	0.786	D	0.87513	0.2441	9	0.62326	D	0.03	.	9.8246	0.40903	0.0:0.9029:0.0:0.0971	.	1065	Q9UKN7	MYO15_HUMAN	M	1065	ENSP00000205890:L1065M	ENSP00000205890:L1065M	L	+	1	2	MYO15A	17966032	0.001000	0.12720	0.858000	0.33744	0.605000	0.37080	0.418000	0.21230	1.123000	0.41961	0.561000	0.74099	CTG	MYO15A	-	NULL		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18025307	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.757	A	A	18025307	C	A	18025307	3	1	49	1	0	0	0	0	1	0	0	0	10086	564	20	4	3195	4	MYO15A	17	18025307	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	9676220	18025307	63169903	115	6613										
TUBG2	27175	genome.wustl.edu	37	chr17	40818127	40818127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggccagcgtgaggaagaccaCggtcctggatgtcatgaggc	16	10	1	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:40818127C>T	ENST00000251412.7	+	9	1065	c.866C>T	c.(865-867)aCg>aTg	p.T289M	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	289					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGGAAGACCACGGTCCTGGAT	0.612																																																	0													75	70	72					17																	40818127		2203	4300	6503	SO:0001583	missense	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.866C>T	17.37:g.40818127C>T	ENSP00000251412:p.Thr289Met		A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.T289M	ENST00000251412.7	37	c.866	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767751	0.69878	.	.	ENSG00000037042	ENST00000251412	D	0.86030	-2.06	5.28	5.28	0.74379	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.92923	3.36	0.80722	D	1	P	0.46277	0.875	P	0.47251	0.542	D	0.93555	0.6890	10	0.87932	D	0	-18.4081	18.9486	0.92632	0.0:1.0:0.0:0.0	.	289	Q9NRH3	TBG2_HUMAN	M	289	ENSP00000251412:T289M	ENSP00000251412:T289M	T	+	2	0	TUBG2	38071653	1.000000	0.71417	0.993000	0.49108	0.305000	0.27757	7.640000	0.83355	2.479000	0.83701	0.655000	0.94253	ACG	TUBG2	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin		0.612	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	C	NM_016437		40818127	1	no_errors	ENST00000251412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40818127	C	T	40818127	3	4	49	1	0	0	0	0	1	0	0	0	16796	536	19	2	900	2	TUBG2	17	40818127	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	22792820	40818127	40377083	116	6614										
CASKIN2	57513	genome.wustl.edu	37	chr17	73501032	73501032	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gaggggaggcgggctgcaggGatgcccacccgcttgctgac	18	12	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr17:73501032G>A	ENST00000321617.3	-	11	1639	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CASKIN2_ENST00000433559.2_Silent_p.I269I	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	351						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCAGGGATGCCCACCC	0.692																																																	0													25	25	25					17																	73501032		2203	4295	6498	SO:0001819	synonymous_variant	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1053C>T	17.37:g.73501032G>A			B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.I351	ENST00000321617.3	37	c.1053	CCDS11723.1	17																																																																																			CASKIN2	-	superfamily_SH3_domain		0.692	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	G	NM_020753		73501032	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	silent	SNP	0.000	A	A	73501032	G	A	73501032	2	1	49	1	0	0	0	0	0	0	0	1	2672	1164	41	1		1	CASKIN2	17	73501032	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	32682905	73501032	7694178	117	6615										
MYOM1	8736	genome.wustl.edu	37	chr18	3126818	3126818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttctgcccctccaatcttatCtggttgcttccatccaagaa	5	14	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr18:3126818C>G	ENST00000356443.4	-	19	3205	c.2872G>C	c.(2872-2874)Gat>Cat	p.D958H	MYOM1_ENST00000261606.7_Missense_Mutation_p.D862H|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.D958H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	958	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCAATCTTATCTGGTTGCTTC	0.448																																																	0													90	82	85					18																	3126818		1942	4150	6092	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2872G>C	18.37:g.3126818C>G	ENSP00000348821:p.Asp958His		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D958H	ENST00000356443.4	37	c.2872	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825564	0.50739	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57752	0.38;0.38;0.38	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.352821	0.32836	N	0.005584	T	0.55097	0.1899	L	0.49640	1.575	0.31462	N	0.669393	P;P	0.51147	0.942;0.86	P;P	0.52217	0.693;0.617	T	0.63005	-0.6733	10	0.45353	T	0.12	.	9.3352	0.38045	0.0:0.8008:0.0:0.1992	.	862;958	P52179-2;P52179	.;MYOM1_HUMAN	H	958;958;862	ENSP00000348821:D958H;ENSP00000383413:D958H;ENSP00000261606:D862H	ENSP00000261606:D862H	D	-	1	0	MYOM1	3116818	0.989000	0.36119	1.000000	0.80357	0.932000	0.56968	2.478000	0.45189	2.559000	0.86315	0.655000	0.94253	GAT	MYOM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	C	NM_003803		3126818	-1	no_errors	ENST00000356443	ensembl	human	known	70_37	missense	SNP	0.961	G	G	3126818	C	G	3126818	3	3	49	1	0	0	0	0	1	0	0	0	10114	913	32	1	2265	1	MYOM1	18	3126818	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		3126818	74950430	118	6616										
TTC39C	125488	genome.wustl.edu	37	chr18	21703865	21703865	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aaagaagttcagaaactcttCaaaaggaaaaacaatcagat	6	6	4	3			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr18:21703865C>G	ENST00000317571.3	+	9	1490	c.1254C>G	c.(1252-1254)ttC>ttG	p.F418L	RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000540918.2_Missense_Mutation_p.F111L|RNU5A-6P_ENST00000384136.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.F357L	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	418										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AGAAACTCTTCAAAAGGAAAA	0.378																																																	0													68	63	65					18																	21703865		2203	4300	6503	SO:0001583	missense	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1254C>G	18.37:g.21703865C>G	ENSP00000323645:p.Phe418Leu		B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.F418L	ENST00000317571.3	37	c.1254	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628085	0.46944	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.75589	-0.95;-0.95;-0.95	5.97	5.09	0.68999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.65975	2.015	0.80722	D	1	B	0.20261	0.043	B	0.18871	0.023	T	0.64084	-0.6490	10	0.23891	T	0.37	.	12.7978	0.57567	0.0:0.871:0.0:0.1289	.	418	Q8N584	TT39C_HUMAN	L	357;418;111	ENSP00000306598:F357L;ENSP00000323645:F418L;ENSP00000443016:F111L	ENSP00000306598:F357L	F	+	3	2	TTC39C	19957863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.349000	0.44054	2.831000	0.97527	0.655000	0.94253	TTC	TTC39C	-	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor		0.378	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	C	NM_153211		21703865	1	no_errors	ENST00000317571	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21703865	C	G	21703865	3	3	49	1	0	0	0	0	1	0	0	0	16740	825	29	1	1288	1	TTC39C	18	21703865	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	18577047	21703865	56373383	119	6617										
TXNL4A	10907	genome.wustl.edu	37	chr18	77748266	77748266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggcgatgctgtacaggacctCgtccatcttcatgcacgtag	11	12	2	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr18:77748266C>G	ENST00000269601.5	-	1	327	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000591711.1_Missense_Mutation_p.E43Q|TXNL4A_ENST00000588162.1_Missense_Mutation_p.E43Q	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	43					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		TACAGGACCTCGTCCATCTTC	0.677																																					Ovarian(160;2333 2597 11821 36245)												0													76	52	60					18																	77748266		2203	4300	6503	SO:0001583	missense	10907			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"similar to S. pombe dim1+"	611595	"thioredoxin-like 4"	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.127G>C	18.37:g.77748266C>G	ENSP00000269601:p.Glu43Gln		B2RC18|O14834	Missense_Mutation	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.E43Q	ENST00000269601.5	37	c.127	CCDS32852.1	18	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057315	0.76074	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	4.45	0.53987	Thioredoxin-like fold (2);	0.112491	0.64402	U	0.000018	D	0.82323	0.5012	M	0.92122	3.275	0.80722	D	1	P;D	0.56521	0.816;0.976	P;P	0.54238	0.746;0.719	D	0.87649	0.2527	9	0.62326	D	0.03	-26.6172	17.0557	0.86533	0.0:1.0:0.0:0.0	.	43;43	O14835;P83876	.;TXN4A_HUMAN	Q	43	.	ENSP00000269601:E43Q	E	-	1	0	TXNL4A	75849254	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	6.640000	0.74319	2.181000	0.69327	0.655000	0.94253	GAG	TXNL4A	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5		0.677	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4A	HGNC	protein_coding	OTTHUMT00000451036.1	C	NM_006701		77748266	-1	no_errors	ENST00000269601	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77748266	C	G	77748266	3	3	49	1	0	0	0	0	1	0	0	0	16836	893	31	1	313	1	TXNL4A	18	77748266	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	56044401	77748266	328982	120	6618										
ZBTB7A	51341	genome.wustl.edu	37	chr19	4054919	4054919	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcggcgctgaggatgtcaccCacgttggctgtgctgacggt	16	11	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:4054919C>A	ENST00000322357.4	-	2	590	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ZBTB7A_ENST00000601588.1_Silent_p.V104V	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGTCACCCACGTTGGCTG	0.692																																																	0													58	42	48					19																	4054919		2200	4298	6498	SO:0001819	synonymous_variant	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.312G>T	19.37:g.4054919C>A			D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V104	ENST00000322357.4	37	c.312	CCDS12119.1	19																																																																																			ZBTB7A	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.692	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	C	NM_015898		4054919	-1	no_errors	ENST00000322357	ensembl	human	known	70_37	silent	SNP	0.789	A	A	4054919	C	A	4054919	2	1	49	1	0	0	0	0	0	0	0	1	17583	581	21	4		4	ZBTB7A	19	4054919	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		4054919	55074064	121	6619										
KIAA1543	57662	genome.wustl.edu	37	chr19	7670187	7670187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcatgtgaagcccccggtgaCacggctgctgctctcagccg	13	15	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:7670187C>T	ENST00000160298.4	+	2	325	c.224C>T	c.(223-225)aCa>aTa	p.T75I	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.T75I	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	75					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCGGTGACACGGCTGCTG	0.652																																																	0													80	90	87					19																	7670187		1987	4147	6134	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.224C>T	19.37:g.7670187C>T	ENSP00000160298:p.Thr75Ile		Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T75I	ENST00000160298.4	37	c.224	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	c	8.075	0.771158	0.16051	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.12465	2.68;2.68	4.45	4.45	0.53987	.	0.067498	0.56097	D	0.000024	T	0.07279	0.0184	N	0.16790	0.44	0.39448	D	0.967354	B;B	0.28350	0.166;0.208	B;B	0.22152	0.017;0.038	T	0.31308	-0.9948	10	0.30078	T	0.28	-24.0365	6.9697	0.24642	0.0:0.8004:0.0:0.1996	.	75;75	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	I	75	ENSP00000416797:T75I;ENSP00000160298:T75I	ENSP00000160298:T75I	T	+	2	0	KIAA1543	7576187	0.155000	0.22806	0.988000	0.46212	0.735000	0.41995	0.718000	0.25866	2.005000	0.58758	0.478000	0.44815	ACA	CAMSAP3	-	NULL		0.652	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	C	XM_048362		7670187	1	no_errors	ENST00000446248	ensembl	human	known	70_37	missense	SNP	0.968	T	T	7670187	C	T	7670187	3	4	49	1	0	0	0	0	1	0	0	0	8263	478	17	4	230	4	KIAA1543	19	7670187	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	3615268	7670187	51458796	122	6620										
MUC16	94025	genome.wustl.edu	37	chr19	9056578	9056578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tcgtggaactccagtggtggCaaatgaagtcatggcctctg	13	9	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:9056578C>A	ENST00000397910.4	-	3	31071	c.30868G>T	c.(30868-30870)Gcc>Tcc	p.A10290S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10292	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTGGTGGCAAATGAAGTC	0.502																																																	0													102	102	102					19																	9056578		2064	4206	6270	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30868G>T	19.37:g.9056578C>A	ENSP00000381008:p.Ala10290Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A10290S	ENST00000397910.4	37	c.30868	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	7.703	0.693584	0.15039	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	3.13	-0.33	0.12683	.	.	.	.	.	T	0.02380	0.0073	N	0.14661	0.345	.	.	.	D	0.54964	0.969	P	0.47744	0.556	T	0.45041	-0.9288	8	0.87932	D	0	.	3.2647	0.06860	0.0:0.5125:0.2253:0.2622	.	10290	B5ME49	.	S	10290	ENSP00000381008:A10290S	ENSP00000381008:A10290S	A	-	1	0	MUC16	8917578	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.364000	0.07583	0.014000	0.14944	0.461000	0.40582	GCC	MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9056578	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9056578	C	A	9056578	3	1	49	1	0	0	0	0	1	0	0	0	9996	710	25	4	12983	4	MUC16	19	9056578	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	1386391	9056578	50072405	123	6621										
SMARCA4	6597	genome.wustl.edu	37	chr19	11106996	11106996	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gtggctaacctcacggagctGgtgcggcagcacaaggctgc	15	12	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:11106996G>T	ENST00000429416.3	+	11	1982	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	SMARCA4_ENST00000589677.1_Silent_p.L567L|SMARCA4_ENST00000344626.4_Silent_p.L567L|SMARCA4_ENST00000413806.3_Silent_p.L567L|SMARCA4_ENST00000444061.3_Silent_p.L567L|SMARCA4_ENST00000590574.1_Silent_p.L567L|SMARCA4_ENST00000358026.2_Silent_p.L567L|SMARCA4_ENST00000450717.3_Silent_p.L567L|SMARCA4_ENST00000541122.2_Silent_p.L567L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	567					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCACGGAGCTGGTGCGGCAGC	0.592			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	3	Unknown(3)	lung(2)|prostate(1)											104	94	97					19																	11106996		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1701G>T	19.37:g.11106996G>T			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L567	ENST00000429416.3	37	c.1701	CCDS12253.1	19																																																																																			SMARCA4	-	NULL		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11106996	1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11106996	G	T	11106996	2	4	49	1	0	0	0	0	0	0	0	1	14800	1335	47	4		4	SMARCA4	19	11106996	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	2050418	11106996	48021987	124	6622										
CACNA1A	773	genome.wustl.edu	37	chr19	13482538	13482538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cagcttgagcggccgcagcaCtcgaactgccctcagcgtcc	11	17	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:13482538C>T	ENST00000360228.5	-	4	594	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V199M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	199					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCGCAGCACTCGAACTGCC	0.587																																																	0													19	23	22					19																	13482538		1996	4157	6153	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.595G>A	19.37:g.13482538C>T	ENSP00000353362:p.Val199Met		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.V199M	ENST00000360228.5	37	c.595	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985795	0.74589	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98937	-5.25	4.91	4.91	0.64330	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99324	0.9763	M	0.92459	3.31	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.973	D	0.98858	1.0761	10	0.87932	D	0	.	16.8738	0.86046	0.0:1.0:0.0:0.0	.	199;199	O00555;Q9NS88	CAC1A_HUMAN;.	M	199	ENSP00000353362:V199M	ENSP00000317661:V199M	V	-	1	0	CACNA1A	13343538	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	7.459000	0.80802	2.285000	0.76669	0.655000	0.94253	GTG	CACNA1A	-	pfam_Ion_trans_dom		0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13482538	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13482538	C	T	13482538	3	4	49	1	0	0	0	0	1	0	0	0	2543	565	20	4	7215	4	CACNA1A	19	13482538	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	2375542	13482538	45646445	125	6623										
ZNF333	84449	genome.wustl.edu	37	chr19	14830009	14830009	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cctatcaatgtaatcagtgtGagaaagccttcaggcacagc	9	10	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:14830009G>C	ENST00000292530.6	+	12	1961	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.E515Q	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TAATCAGTGTGAGAAAGCCTT	0.493																																					NSCLC(60;75 1281 16985 25154 29885)												0													137	134	135					19																	14830009		2203	4300	6503	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1870G>C	19.37:g.14830009G>C	ENSP00000292530:p.Glu624Gln		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E624Q	ENST00000292530.6	37	c.1870	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996291	0.74818	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07444	3.19;3.19	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	N	0.24115	0.695	0.32941	D	0.518463	D	0.53462	0.96	P	0.56514	0.8	T	0.17776	-1.0358	9	0.36615	T	0.2	.	11.4031	0.49880	0.0:0.0:1.0:0.0	.	624	Q96JL9	ZN333_HUMAN	Q	515;624	ENSP00000439749:E515Q;ENSP00000292530:E624Q	ENSP00000292530:E624Q	E	+	1	0	ZNF333	14691009	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	5.244000	0.65400	1.784000	0.52394	0.655000	0.94253	GAG	ZNF333	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.493	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	G	NM_032433		14830009	1	no_errors	ENST00000292530	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14830009	G	C	14830009	3	2	49	1	0	0	0	0	1	0	0	0	17880	1291	45	1	1912	1	ZNF333	19	14830009	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	1347471	14830009	44298974	126	6624										
CYP4F22	126410	genome.wustl.edu	37	chr19	15648399	15648399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggagccggcaccgtcgcctgCtgacacccgccttccacttt	10	18	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:15648399C>T	ENST00000269703.3	+	6	674	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	CYP4F22_ENST00000601005.2_Silent_p.L159L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	159						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCGTCGCCTGCTGACACCCGC	0.542																																																	0													72	73	73					19																	15648399		2203	4300	6503	SO:0001819	synonymous_variant	126410				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.475C>T	19.37:g.15648399C>T			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L159	ENST00000269703.3	37	c.475	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	C	NM_173483		15648399	1	no_errors	ENST00000269703	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15648399	C	T	15648399	2	4	49	1	0	0	0	0	0	0	0	1	4194	796	28	4		4	CYP4F22	19	15648399	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	818390	15648399	43480584	127	6625										
KIAA0892	23383	genome.wustl.edu	37	chr19	19466191	19466191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgcagcctccccgaacacaaCctcatcacggtacgggtgtg	10	15	2	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:19466191C>A	ENST00000392313.6	+	18	1937	c.1758C>A	c.(1756-1758)aaC>aaA	p.N586K	MAU2_ENST00000262815.8_Missense_Mutation_p.N586K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	586					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCGAACACAACCTCATCACGG	0.597																																																	0													91	84	86					19																	19466191		2203	4300	6503	SO:0001583	missense	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1758C>A	19.37:g.19466191C>A	ENSP00000376127:p.Asn586Lys		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.N586K	ENST00000392313.6	37	c.1758	CCDS32969.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.71|10.71	1.427572|1.427572	0.25726|0.25726	.|.	.|.	ENSG00000129933|ENSG00000129933	ENST00000392313;ENST00000262815|ENST00000262816;ENST00000499453	.|.	.|.	.|.	5.43|5.43	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.43152|0.43152	1.355|1.355	0.53688|0.53688	D|D	0.999977|0.999977	P;P;B|.	0.48694|.	0.884;0.914;0.242|.	B;P;B|.	0.44518|.	0.306;0.452;0.022|.	T|T	0.59048|0.59048	-0.7527|-0.7527	9|6	0.07813|0.87932	T|D	0.8|0	.|.	7.4257|7.4257	0.27098|0.27098	0.0:0.7494:0.0:0.2506|0.0:0.7494:0.0:0.2506	.|.	162;191;586|.	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3|.	.;.;SCC4_HUMAN|.	K|N	586|30	.|.	ENSP00000262815:N586K|ENSP00000262816:T30N	N|T	+|+	3|2	2|0	MAU2|MAU2	19327191|19327191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.076000|1.076000	0.30729|0.30729	1.310000|1.310000	0.45006|0.45006	0.561000|0.561000	0.74099|0.74099	AAC|ACC	MAU2	-	NULL		0.597	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	C	NM_015329		19466191	1	no_errors	ENST00000262815	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19466191	C	A	19466191	3	1	49	1	0	0	0	0	1	0	0	0	8216	506	18	4	1828	4	KIAA0892	19	19466191	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	3817792	19466191	39662792	128	6626										
GMIP	51291	genome.wustl.edu	37	chr19	19753385	19753385	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	aggttgtccaggctccggaaGatgtcactgtacctcttcct	10	12	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:19753385G>A	ENST00000203556.4	-	2	200	c.63C>T	c.(61-63)atC>atT	p.I21I	GMIP_ENST00000587238.1_Silent_p.I21I|GMIP_ENST00000445806.2_Silent_p.I21I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	21					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTCCGGAAGATGTCACTGT	0.592																																																	0													165	141	150					19																	19753385		2203	4300	6503	SO:0001819	synonymous_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.63C>T	19.37:g.19753385G>A			A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.I21	ENST00000203556.4	37	c.63	CCDS12408.1	19																																																																																			GMIP	-	NULL		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	G	NM_016573		19753385	-1	no_errors	ENST00000203556	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19753385	G	A	19753385	2	1	49	1	0	0	0	0	0	0	0	1	6510	932	33	1		1	GMIP	19	19753385	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	287194	19753385	39375598	129	6627										
ZNF208	7757	genome.wustl.edu	37	chr19	22154844	22154844	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttcacatttgtagggtttctCtccagtatgaattaccttat	6	8	2	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:22154844C>G	ENST00000397126.4	-	4	3140	c.2992G>C	c.(2992-2994)Gag>Cag	p.E998Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	998					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.358																																																	0													58	64	62					19																	22154844		2095	4237	6332	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2992G>C	19.37:g.22154844C>G	ENSP00000380315:p.Glu998Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E998Q	ENST00000397126.4	37	c.2992	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743729	0.30865	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25912	1.77	2.58	1.47	0.22746	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46425	0.1392	.	.	.	0.26270	N	0.978432	D	0.64830	0.994	D	0.74674	0.984	T	0.29579	-1.0007	8	0.72032	D	0.01	.	9.8715	0.41177	0.0:0.7875:0.2125:0.0	.	870	O43345	ZN208_HUMAN	Q	998;870	ENSP00000380315:E998Q	ENSP00000380315:E998Q	E	-	1	0	ZNF208	21946684	0.583000	0.26757	0.033000	0.17914	0.269000	0.26545	1.582000	0.36568	0.096000	0.17463	0.289000	0.19496	GAG	ZNF208	-	pfscan_Znf_C2H2		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	C	NM_007153		22154844	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	22154844	C	G	22154844	3	3	49	1	0	0	0	0	1	0	0	0	17796	922	32	1	854	1	ZNF208	19	22154844	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	2401459	22154844	36974139	130	6628										
THAP8	199745	genome.wustl.edu	37	chr19	36530340	36530340	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gctcctggcaccgttgcagcCtccgcacccggcgttgcagt	12	17	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:36530340C>G	ENST00000292894.1	-	3	1101	c.557G>C	c.(556-558)aGg>aCg	p.R186T	THAP8_ENST00000524106.1_5'Flank|THAP8_ENST00000538849.1_Missense_Mutation_p.R41T|AC002116.7_ENST00000586962.1_RNA	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	186							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGTTGCAGCCTCCGCACCCG	0.711																																																	0													7	7	7					19																	36530340		2174	4256	6430	SO:0001583	missense	199745			AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"THAP (C2CH-type zinc finger) domain containing"	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.557G>C	19.37:g.36530340C>G	ENSP00000292894:p.Arg186Thr		Q0P5Z7|Q96M21	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R186T	ENST00000292894.1	37	c.557	CCDS33000.1	19	.	.	.	.	.	.	.	.	.	.	c	17.75	3.466739	0.63625	.	.	ENSG00000161277	ENST00000292894;ENST00000392182;ENST00000538849	D;T	0.88896	-2.44;1.27	4.54	3.49	0.39957	.	5.560930	0.01821	U	0.034070	D	0.87438	0.6177	L	0.29908	0.895	0.24271	N	0.995244	D	0.53885	0.963	P	0.53035	0.716	T	0.77096	-0.2714	10	0.17369	T	0.5	-11.8924	6.3455	0.21347	0.0:0.7916:0.0:0.2084	.	186	Q8NA92	THAP8_HUMAN	T	186;186;41	ENSP00000292894:R186T;ENSP00000445493:R41T	ENSP00000292894:R186T	R	-	2	0	THAP8	41222180	0.990000	0.36364	0.760000	0.31359	0.044000	0.14063	2.925000	0.48884	2.248000	0.74166	0.552000	0.68991	AGG	THAP8	-	NULL		0.711	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP8	HGNC	protein_coding	OTTHUMT00000379036.1	C	NM_152658		36530340	-1	no_errors	ENST00000292894	ensembl	human	known	70_37	missense	SNP	0.907	G	G	36530340	C	G	36530340	3	3	49	1	0	0	0	0	1	0	0	0	15880	681	24	4	275	4	THAP8	19	36530340	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	14375496	36530340	22598643	131	6629										
CATSPERG	57828	genome.wustl.edu	37	chr19	38855535	38855535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cctccttcaaccccagattaCgctcaaggataaaaagcttt	5	13	2	1	rs200588516		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:38855535C>T	ENST00000409235.3	+	21	2595	c.2480C>T	c.(2479-2481)aCg>aTg	p.T827M	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.T787M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	827					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCCAGATTACGCTCAAGGAT	0.502																																																	0													100	100	100					19																	38855535		2203	4300	6503	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2480C>T	19.37:g.38855535C>T	ENSP00000386962:p.Thr827Met		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.T827M	ENST00000409235.3	37	c.2480	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807288	0.50421	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34472	1.36;1.36	4.5	-0.549	0.11829	.	0.493419	0.18338	N	0.144285	T	0.25269	0.0614	M	0.67953	2.075	0.80722	D	1	P;P	0.47677	0.899;0.777	B;B	0.34242	0.178;0.07	T	0.11348	-1.0591	10	0.72032	D	0.01	-12.5642	3.8129	0.08804	0.3401:0.467:0.0:0.1929	.	827;787	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	787;827;827	ENSP00000387057:T787M;ENSP00000386962:T827M	ENSP00000386962:T827M	T	+	2	0	CATSPERG	43547375	0.000000	0.05858	0.070000	0.20053	0.580000	0.36256	-1.320000	0.02700	0.100000	0.17581	0.561000	0.74099	ACG	CATSPERG	-	NULL		0.502	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	C	NM_021185		38855535	1	no_errors	ENST00000409235	ensembl	human	known	70_37	missense	SNP	0.004	T	T	38855535	C	T	38855535	3	4	49	1	0	0	0	0	1	0	0	0	2697	536	19	2	2558	2	CATSPERG	19	38855535	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	2325195	38855535	20273448	132	6630										
NUMBL	9253	genome.wustl.edu	37	chr19	41179322	41179322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ttcagccgtaggctcagctgCcgtttgaaaggcgagttctt	12	10	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:41179322C>T	ENST00000252891.4	-	8	1130	c.963G>A	c.(961-963)cgG>cgA	p.R321R	NUMBL_ENST00000598779.1_Silent_p.R280R|NUMBL_ENST00000540131.1_Silent_p.R280R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	321					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCAGCTGCCGTTTGAAAG	0.657																																																	0													32	28	30					19																	41179322		2203	4300	6503	SO:0001819	synonymous_variant	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.963G>A	19.37:g.41179322C>T			Q7Z4J9	Silent	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.R321	ENST00000252891.4	37	c.963	CCDS12561.1	19																																																																																			NUMBL	-	pfam_Numb_domain,pirsf_Numb/numb-like		0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2	C	NM_004756		41179322	-1	no_errors	ENST00000252891	ensembl	human	known	70_37	silent	SNP	1.000	T	T	41179322	C	T	41179322	2	4	49	1	0	0	0	0	0	0	0	1	10776	726	26	4		4	NUMBL	19	41179322	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	2323787	41179322	17949661	133	6631										
CGB7	94027	genome.wustl.edu	37	chr19	49558222	49558222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gccgaagcatctccctggatGcccatgtcccgcccatgctc	9	18	1	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:49558222G>A	ENST00000597853.1	-	4	2930	c.59C>T	c.(58-60)gCa>gTa	p.A20V	CGB7_ENST00000377280.3_Missense_Mutation_p.A20V|CGB7_ENST00000356213.4_Missense_Mutation_p.A18V|CGB7_ENST00000596965.1_Missense_Mutation_p.A20V|CGB7_ENST00000593309.1_5'Flank			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	20					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTCCCTGGATGCCCATGTCCC	0.657																																																	0													92	68	77					19																	49558222		1503	2684	4187	SO:0001583	missense	94027			K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.59C>T	19.37:g.49558222G>A	ENSP00000470813:p.Ala20Val		A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.A20V	ENST00000597853.1	37	c.59	CCDS33071.1	19	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275731	0.40294	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.49139	0.79;0.79	2.0	2.0	0.26442	.	0.471757	0.21086	N	0.080419	T	0.50650	0.1628	.	.	.	0.29269	N	0.870793	P;D	0.53151	0.907;0.958	P;B	0.55055	0.767;0.341	T	0.43343	-0.9397	9	0.42905	T	0.14	-7.0927	7.5905	0.28019	0.0:0.0:1.0:0.0	.	18;50	F5H162;A6NKQ9	.;CGB1_HUMAN	V	20;18	ENSP00000366493:A20V;ENSP00000348545:A18V	ENSP00000348545:A18V	A	-	2	0	CGB7	54250034	0.995000	0.38212	0.701000	0.30321	0.018000	0.09664	4.666000	0.61554	1.442000	0.47568	0.194000	0.17425	GCA	CGB7	-	NULL		0.657	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGB7	HGNC	protein_coding	OTTHUMT00000466254.1	G	NM_033142		49558222	-1	no_errors	ENST00000377280	ensembl	human	known	70_37	missense	SNP	0.880	A	A	49558222	G	A	49558222	3	1	49	1	0	0	0	0	1	0	0	0	3305	1319	46	4	446	4	CGB7	19	49558222	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	8378900	49558222	9570761	134	6632										
ZNF528	84436	genome.wustl.edu	37	chr19	52909224	52909224	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	agagtggaaatgcctggaccCtgcgcagaggactttataca	12	9	0	2	rs146475361		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:52909224C>G	ENST00000360465.3	+	5	506	c.80C>G	c.(79-81)cCt>cGt	p.P27R	ZNF528_ENST00000598192.1_Missense_Mutation_p.P27R|ZNF528_ENST00000391788.2_Missense_Mutation_p.P17R|ZNF528_ENST00000594530.1_Missense_Mutation_p.P27R	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCCTGGACCCTGCGCAGAGG	0.498																																																	0													170	169	169					19																	52909224		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.80C>G	19.37:g.52909224C>G	ENSP00000353652:p.Pro27Arg		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P27R	ENST00000360465.3	37	c.80	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535617	0.27475	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.02579	4.24;4.24;4.24	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.21103	0.0508	H	0.95780	3.72	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.04373	-1.0956	9	0.66056	D	0.02	.	11.1749	0.48593	0.0:1.0:0.0:0.0	.	27	Q3MIS6	ZN528_HUMAN	R	17;27;27	ENSP00000375665:P17R;ENSP00000375664:P27R;ENSP00000353652:P27R	ENSP00000353652:P27R	P	+	2	0	ZNF528	57601036	0.000000	0.05858	0.039000	0.18376	0.328000	0.28507	-0.321000	0.08018	1.141000	0.42275	0.491000	0.48974	CCT	ZNF528	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	C	NM_032423		52909224	1	no_errors	ENST00000360465	ensembl	human	known	70_37	missense	SNP	0.025	G	G	52909224	C	G	52909224	3	3	49	1	0	0	0	0	1	0	0	0	17999	681	24	4	86	4	ZNF528	19	52909224	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	3351002	52909224	6219759	135	6633										
ZNF83	55769	genome.wustl.edu	37	chr19	53117245	53117245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	attctttgatgttgtgcaagGtgtgaaatttgattaaagac	10	3	1	4			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr19:53117245G>T	ENST00000597597.1	-	2	2826	c.573C>A	c.(571-573)caC>caA	p.H191Q	ZNF83_ENST00000391789.4_Missense_Mutation_p.H191Q|ZNF83_ENST00000301096.3_Missense_Mutation_p.H191Q|ZNF83_ENST00000545872.1_Missense_Mutation_p.H191Q|ZNF83_ENST00000536937.1_Missense_Mutation_p.H191Q|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.H191Q|ZNF83_ENST00000544146.1_Missense_Mutation_p.H191Q			P51522	ZNF83_HUMAN	zinc finger protein 83	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GTTGTGCAAGGTGTGAAATTT	0.378																																																	0													69	68	68					19																	53117245		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.573C>A	19.37:g.53117245G>T	ENSP00000472619:p.His191Gln		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H191Q	ENST00000597597.1	37	c.573	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	g	0.292	-0.979353	0.02197	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	1.7	-2.31	0.06765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15219	0.0367	N	0.12527	0.23	0.09310	N	1	B;P	0.48294	0.256;0.908	B;B	0.43680	0.017;0.427	T	0.10222	-1.0639	9	0.14656	T	0.56	.	0.8281	0.01125	0.2665:0.3343:0.2309:0.1683	.	191;191	P51522-2;P51522	.;ZNF83_HUMAN	Q	191	ENSP00000445993:H191Q;ENSP00000301096:H191Q;ENSP00000445470:H191Q;ENSP00000440713:H191Q;ENSP00000439681:H191Q;ENSP00000375666:H191Q	ENSP00000301096:H191Q	H	-	3	2	ZNF83	57809057	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.294000	0.02767	-0.527000	0.06374	-0.499000	0.04595	CAC	ZNF83	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	G	NM_018300		53117245	-1	no_errors	ENST00000301096	ensembl	human	known	70_37	missense	SNP	0.000	T	T	53117245	G	T	53117245	3	4	49	1	0	0	0	0	1	0	0	0	18213	1252	44	4	981	4	ZNF83	19	53117245	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	208021	53117245	6011738	136	6634										
SYCP2	10388	genome.wustl.edu	37	chr20	58496496	58496496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tcttaaagcatcatcaatgcAtttttccaactgctagagaa	5	9	3	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr20:58496496A>G	ENST00000357552.3	-	4	262	c.37T>C	c.(37-39)Tgc>Cgc	p.C13R	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Missense_Mutation_p.C13R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	13					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCATCAATGCATTTTTCCAAC	0.289																																																	0													35	34	34					20																	58496496		2200	4285	6485	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.37T>C	20.37:g.58496496A>G	ENSP00000350162:p.Cys13Arg		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.C13R	ENST00000357552.3	37	c.37	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381471	0.11524	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.44083	2.48;2.48;2.22;0.93	5.04	3.92	0.45320	.	0.350255	0.28442	N	0.015323	T	0.24353	0.0590	N	0.22421	0.69	0.43156	D	0.994935	B	0.27700	0.186	B	0.28011	0.085	T	0.07770	-1.0755	10	0.21540	T	0.41	0.0041	5.7961	0.18387	0.7323:0.0:0.1347:0.133	.	13	Q9BX26	SYCP2_HUMAN	R	13;13;13;12	ENSP00000360040:C13R;ENSP00000350162:C13R;ENSP00000402456:C13R;ENSP00000399300:C12R	ENSP00000350162:C13R	C	-	1	0	SYCP2	57929891	0.974000	0.33945	1.000000	0.80357	0.600000	0.36913	0.821000	0.27338	2.035000	0.60131	0.383000	0.25322	TGC	SYCP2	-	NULL		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	A	NM_014258		58496496	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	0.980	G	G	58496496	A	G	58496496	3	3	49	1	0	0	0	0	1	0	0	0	15462	217	8	5	4723	5	SYCP2	20	58496496	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09		58496496	4529024	137	6635										
PCNT	5116	genome.wustl.edu	37	chr21	47831564	47831564	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	gcctcccggatccaggagttCgaagcggccctgaaagcaaa	12	13	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr21:47831564C>T	ENST00000359568.5	+	28	5684	c.5577C>T	c.(5575-5577)ttC>ttT	p.F1859F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1859					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCAGGAGTTCGAAGCGGCCC	0.612																																																	0													35	40	38					21																	47831564		2202	4299	6501	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5577C>T	21.37:g.47831564C>T			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.F1859	ENST00000359568.5	37	c.5577	CCDS33592.1	21																																																																																			PCNT	-	NULL		0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	C	NM_006031		47831564	1	no_errors	ENST00000359568	ensembl	human	known	70_37	silent	SNP	0.000	T	T	47831564	C	T	47831564	2	4	49	1	0	0	0	0	0	0	0	1	11614	883	31	1		1	PCNT	21	47831564	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09		47831564	298331	138	6636										
MCAT	27349	genome.wustl.edu	37	chr22	43529286	43529286	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgctgggccagcagcttgtgGatgtgcccgggatgcctgta	16	10	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chr22:43529286G>C	ENST00000290429.6	-	4	981	c.936C>G	c.(934-936)atC>atG	p.I312M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	312					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCAGCTTGTGGATGTGCCCGG	0.552																																																	0													96	94	94					22																	43529286		2203	4300	6503	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.936C>G	22.37:g.43529286G>C	ENSP00000290429:p.Ile312Met		B0QY72|O95510|O95511	Missense_Mutation	SNP	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	p.I312M	ENST00000290429.6	37	c.936	CCDS33660.1	22	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836082	0.50951	.	.	ENSG00000100294	ENST00000290429	T	0.42131	0.98	5.46	1.95	0.26073	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.125163	0.53938	D	0.000044	T	0.53206	0.1782	M	0.83692	2.655	0.54753	D	0.999989	P	0.46706	0.883	P	0.52710	0.707	T	0.54302	-0.8314	10	0.72032	D	0.01	-13.8519	6.1591	0.20354	0.0675:0.1122:0.5927:0.2277	.	312	Q8IVS2	FABD_HUMAN	M	312	ENSP00000290429:I312M	ENSP00000290429:I312M	I	-	3	3	MCAT	41859230	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.024000	0.30077	0.627000	0.30340	0.655000	0.94253	ATC	MCAT	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase		0.552	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAT	HGNC	protein_coding	OTTHUMT00000319677.2	G	NM_173467		43529286	-1	no_errors	ENST00000290429	ensembl	human	known	70_37	missense	SNP	0.999	C	C	43529286	G	C	43529286	3	2	49	1	0	0	0	0	1	0	0	0	9395	1164	41	1	240	1	MCAT	22	43529286	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		43529286	7775280	139	6637										
DHRSX	207063	genome.wustl.edu	37	chrX	2161134	2161134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	acacgtgcttgtagacgtccGtgttgaccaccccggggtcc	12	14	0	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:2161134G>A	ENST00000334651.5	-	6	786	c.734C>T	c.(733-735)aCg>aTg	p.T245M		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	245							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTAGACGTCCGTGTTGACCAC	0.612																																																	0													111	103	106					X																	2161134		2203	4296	6499	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.734C>T	X.37:g.2161134G>A	ENSP00000334113:p.Thr245Met		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.T245M	ENST00000334651.5	37	c.734	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	g	12.00	1.806144	0.31961	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	T;T	0.39406	1.08;1.08	1.45	1.45	0.22620	NAD(P)-binding domain (1);	0.064498	0.64402	U	0.000011	T	0.74405	0.3712	H	0.98629	4.285	0.22412	N	0.99913	D	0.89917	1.0	D	0.78314	0.991	T	0.68500	-0.5392	10	0.87932	D	0	.	10.968	0.47424	0.0:0.0:1.0:0.0	.	245	Q8N5I4	DHRSX_HUMAN	M	245;222	ENSP00000334113:T245M;ENSP00000391778:T222M	ENSP00000334113:T245M	T	-	2	0	DHRSX	2171134	1.000000	0.71417	0.795000	0.32087	0.195000	0.23768	7.336000	0.79245	0.430000	0.26230	0.054000	0.15206	ACG	DHRSX	-	prints_Glc/ribitol_DH		0.612	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	G	NM_145177		2161134	-1	no_errors	ENST00000334651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2161134	G	A	2161134	3	1	49	1	0	0	0	0	1	0	0	0	4509	1145	40	2	266	2	DHRSX	23	2161134	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09		2161134	153109426	140	6638										
MAP3K15	389840	genome.wustl.edu	37	chrX	19391729	19391729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	caggctgggcgtcggagtctGgggagacagagccgtgctcg	19	10	1	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:19391729G>A	ENST00000338883.4	-	21	2857	c.2858C>T	c.(2857-2859)cCa>cTa	p.P953L	MAP3K15_ENST00000469203.2_Missense_Mutation_p.P785L|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.P388L	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	953							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTCGGAGTCTGGGGAGACAGA	0.672																																																	0													42	36	38					X																	19391729		2197	4296	6493	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2858C>T	X.37:g.19391729G>A	ENSP00000345629:p.Pro953Leu		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P953L	ENST00000338883.4	37	c.2858		X	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353029	0.82132	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73469	-0.73;-0.75;-0.72	5.22	4.33	0.51752	.	0.049700	0.85682	D	0.000000	D	0.83390	0.5244	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.74674	0.984;0.907	D	0.83986	0.0335	10	0.56958	D	0.05	.	14.2642	0.66104	0.0:0.0:0.85:0.15	.	428;953	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	L	953;388;785	ENSP00000345629:P953L;ENSP00000352093:P388L;ENSP00000428356:P785L	ENSP00000345629:P953L	P	-	2	0	MAP3K15	19301650	1.000000	0.71417	0.107000	0.21349	0.158000	0.22134	4.820000	0.62671	0.934000	0.37316	0.509000	0.49947	CCA	MAP3K15	-	NULL		0.672	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19391729	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19391729	G	A	19391729	3	1	49	1	0	0	0	0	1	0	0	0	9272	1348	47	4	1119	4	MAP3K15	23	19391729	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	17230595	19391729	135878831	141	6639										
MAGEB18	286514	genome.wustl.edu	37	chrX	26157301	26157301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tccctgaagcgcttcagggaGccccatccaccaccaatgct	8	17	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:26157301G>A	ENST00000325250.1	+	2	386	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	67						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GCTTCAGGGAGCCCCATCCAC	0.522																																																	0													44	39	41					X																	26157301		2202	4300	6502	SO:0001583	missense	286514			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.199G>A	X.37:g.26157301G>A	ENSP00000314543:p.Ala67Thr			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A67T	ENST00000325250.1	37	c.199	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589419	0.28357	.	.	ENSG00000176774	ENST00000325250	T	0.08282	3.11	4.4	-2.34	0.06704	Melanoma associated antigen, MAGE, N-terminal (1);	1.953430	0.02393	N	0.079933	T	0.13543	0.0328	M	0.67397	2.05	0.09310	N	1	B	0.26635	0.155	B	0.30251	0.113	T	0.42732	-0.9434	10	0.54805	T	0.06	.	9.8045	0.40783	0.6943:0.0:0.3057:0.0	.	67	Q96M61	MAGBI_HUMAN	T	67	ENSP00000314543:A67T	ENSP00000314543:A67T	A	+	1	0	MAGEB18	26067222	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.955000	0.03869	-0.721000	0.04929	-0.380000	0.06706	GCC	MAGEB18	-	pfam_Melanoma_ass_antigen_N		0.522	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	G	NM_173699		26157301	1	no_errors	ENST00000325250	ensembl	human	known	70_37	missense	SNP	0.000	A	A	26157301	G	A	26157301	3	1	49	1	0	0	0	0	1	0	0	0	9198	971	34	4	201	4	MAGEB18	23	26157301	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	6765572	26157301	129113259	142	6640										
ZNF630	57232	genome.wustl.edu	37	chrX	47919006	47919006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgatgtataatgagctgtgaCttcttgataaaggctttccc	9	7	1	4	rs111973436		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:47919006C>T	ENST00000409324.3	-	5	1051	c.825G>A	c.(823-825)aaG>aaA	p.K275K	ZNF630_ENST00000442455.3_Silent_p.K261K|ZNF630_ENST00000276054.4_Silent_p.K151K|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGAGCTGTGACTTCTTGATAA	0.388																																																	0													109	97	101					X																	47919006		2195	4290	6485	SO:0001819	synonymous_variant	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.825G>A	X.37:g.47919006C>T			F8WAG4|Q5H8Z5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K275	ENST00000409324.3	37	c.825	CCDS35237.2	X																																																																																			ZNF630	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47919006	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	silent	SNP	0.000	T	T	47919006	C	T	47919006	2	4	49	1	0	0	0	0	0	0	0	1	18084	564	20	4		4	ZNF630	23	47919006	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	21761705	47919006	107351554	143	6641										
HEPH	9843	genome.wustl.edu	37	chrX	65486376	65486376	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atgctggcctctgttttggtTgccattagtgtcacccttct	9	11	3	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:65486376T>C	ENST00000343002.2	+	20	4003	c.3339T>C	c.(3337-3339)gtT>gtC	p.V1113V	HEPH_ENST00000441993.2_Silent_p.V1115V|HEPH_ENST00000374727.3_Silent_p.V1116V|HEPH_ENST00000419594.1_Silent_p.V924V|HEPH_ENST00000519389.1_Silent_p.V1167V|HEPH_ENST00000336279.5_Silent_p.V846V			Q9BQS7	HEPH_HUMAN	hephaestin	1113					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGTTTTGGTTGCCATTAGTG	0.502																																																	0													336	218	258					X																	65486376		2203	4300	6503	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3339T>C	X.37:g.65486376T>C			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V1167	ENST00000343002.2	37	c.3501		X																																																																																			HEPH	-	NULL		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	T	NM_138737		65486376	1	no_errors	ENST00000519389	ensembl	human	known	70_37	silent	SNP	0.017	C	C	65486376	T	C	65486376	2	2	49	1	0	0	0	0	0	0	0	1	7074	1799	63	5		5	HEPH	23	65486376	Silent	SNP	T	TCGA-C5-A7UE-01A-11D-A33O-09	17567370	65486376	89784184	144	6642										
KIAA2022	340533	genome.wustl.edu	37	chrX	73963960	73963960	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atgaagcagcctaagcaagtCcgacttggctgcatgagaca	11	10	0	2			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:73963960C>G	ENST00000055682.6	-	3	1043	c.432G>C	c.(430-432)cgG>cgC	p.R144R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	144					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTAAGCAAGTCCGACTTGGCT	0.483																																																	0													86	75	79					X																	73963960		2203	4300	6503	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.432G>C	X.37:g.73963960C>G			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.R144	ENST00000055682.6	37	c.432	CCDS35337.1	X																																																																																			KIAA2022	-	NULL		0.483	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73963960	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	silent	SNP	1.000	G	G	73963960	C	G	73963960	2	3	49	1	0	0	0	0	0	0	0	1	8289	842	30	1		1	KIAA2022	23	73963960	Silent	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	8477584	73963960	81306600	145	6643										
GPR174	84636	genome.wustl.edu	37	chrX	78426933	78426933	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atcagcattgctggctggctGatcatctgccttgcctgtgt	11	11	3	1	rs187883081		TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:78426933G>A	ENST00000276077.1	+	1	465	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCTGGCTGATCATCTGCC	0.473										HNSCC(63;0.18)																																							0													192	165	174					X																	78426933		2203	4300	6503	SO:0001819	synonymous_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.429G>A	X.37:g.78426933G>A			Q2M3F7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.L143	ENST00000276077.1	37	c.429	CCDS14443.1	X																																																																																			GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	G	NM_032553		78426933	1	no_errors	ENST00000276077	ensembl	human	known	70_37	silent	SNP	0.803	A	A	78426933	G	A	78426933	2	1	49	1	0	0	0	0	0	0	0	1	6691	1277	45	1		1	GPR174	23	78426933	Silent	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	4462973	78426933	76843627	146	6644										
TAF7L	54457	genome.wustl.edu	37	chrX	100531425	100531425	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tcttcatcttcatcctcatcCtcatcctcatcctcatcttc	0	18	9	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:100531425C>G	ENST00000372907.3	-	10	1052	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.E261D	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	347	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						catcctcatcctcatcctcat	0.423																																					Ovarian(104;431 1530 3210 15406 18594)												0													210	159	176					X																	100531425		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1041G>C	X.37:g.100531425C>G	ENSP00000361998:p.Glu347Asp		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.E347D	ENST00000372907.3	37	c.1041	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	c	7.096	0.573111	0.13623	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.64085	-0.08;-0.08	4.46	-8.93	0.00771	Armadillo-like helical (1);	1.140890	0.06725	N	0.775584	T	0.40040	0.1101	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.13470	T	0.59	0.5288	1.9457	0.03356	0.1649:0.3187:0.3233:0.1931	.	347	Q5H9L4	TAF7L_HUMAN	D	347;261	ENSP00000361998:E347D;ENSP00000349235:E261D	ENSP00000349235:E261D	E	-	3	2	TAF7L	100418081	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.246000	0.00138	-2.323000	0.00639	-0.612000	0.04053	GAG	TAF7L	-	NULL		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	C			100531425	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.000	G	G	100531425	C	G	100531425	3	3	49	1	0	0	0	0	1	0	0	0	15563	680	24	4	363	4	TAF7L	23	100531425	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	22104492	100531425	54739135	147	6645			2	33		2	2	12	C		5.400947e-05
TAF7L	54457	genome.wustl.edu	37	chrX	100531436	100531436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	atcctcatcctcatcctcatCctcatcttcatcatcctcat	0	18	8	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:100531436C>G	ENST00000372907.3	-	10	1041	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D258H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	344	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcctcatcttca	0.408																																					Ovarian(104;431 1530 3210 15406 18594)												0													209	162	178					X																	100531436		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1030G>C	X.37:g.100531436C>G	ENSP00000361998:p.Asp344His		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.D344H	ENST00000372907.3	37	c.1030	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	c	12.80	2.045603	0.36085	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.69306	-0.39;1.36	4.31	2.46	0.29980	Armadillo-like helical (1);	0.539227	0.13826	U	0.360077	T	0.53481	0.1799	L	0.36672	1.1	0.09310	N	0.999993	B	0.25563	0.129	B	0.18561	0.022	T	0.46456	-0.9190	10	0.66056	D	0.02	-0.2151	8.4804	0.33038	0.1733:0.663:0.1637:0.0	.	344	Q5H9L4	TAF7L_HUMAN	H	344;258	ENSP00000361998:D344H;ENSP00000349235:D258H	ENSP00000349235:D258H	D	-	1	0	TAF7L	100418092	0.984000	0.35163	0.000000	0.03702	0.023000	0.10783	2.420000	0.44679	0.218000	0.20820	0.464000	0.42555	GAT	TAF7L	-	NULL		0.408	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	C			100531436	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.009	G	G	100531436	C	G	100531436	3	3	49	1	0	0	0	0	1	0	0	0	15563	855	30	1	374	1	TAF7L	23	100531436	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	11	100531436	54739124	148	6646			2	33		2	2	12	C		5.400947e-05
DDX26B	203522	genome.wustl.edu	37	chrX	134711238	134711238	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	ggagtatgtccctgctgttgAggaaaccacaaacaccacct	9	12	0	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:134711238A>T	ENST00000370752.4	+	14	2228	c.1894A>T	c.(1894-1896)Agg>Tgg	p.R632W	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	632										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGTTGAGGAAACCACA	0.498																																																	0													249	201	218					X																	134711238		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1894A>T	X.37:g.134711238A>T	ENSP00000359788:p.Arg632Trp		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.R632W	ENST00000370752.4	37	c.1894	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044852	0.75732	.	.	ENSG00000165359	ENST00000370752	T	0.37915	1.17	5.43	4.26	0.50523	.	0.145674	0.64402	D	0.000015	T	0.45155	0.1328	M	0.70275	2.135	0.33535	D	0.594131	D;P	0.57571	0.98;0.928	P;P	0.52159	0.691;0.566	T	0.61501	-0.7050	10	0.87932	D	0	-2.5336	6.5206	0.22272	0.6465:0.2721:0.0814:0.0	.	632;632	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	W	632	ENSP00000359788:R632W	ENSP00000359788:R632W	R	+	1	2	DDX26B	134538904	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.079000	0.30766	0.796000	0.33947	0.486000	0.48141	AGG	DDX26B	-	NULL		0.498	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	A	NM_182540		134711238	1	no_errors	ENST00000370752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134711238	A	T	134711238	3	4	49	1	0	0	0	0	1	0	0	0	4358	295	11	5	1948	5	DDX26B	23	134711238	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	34179802	134711238	20559322	149	6647										
GPR112	139378	genome.wustl.edu	37	chrX	135430288	135430288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tttccacagctggactatatAatgacggttttacagttctc	7	9	1	1			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:135430288A>C	ENST00000394143.1	+	6	4714	c.4423A>C	c.(4423-4425)Aat>Cat	p.N1475H	GPR112_ENST00000394141.1_Missense_Mutation_p.N1270H|GPR112_ENST00000412101.1_Missense_Mutation_p.N1270H|GPR112_ENST00000287534.4_Missense_Mutation_p.N1412H|GPR112_ENST00000370652.1_Missense_Mutation_p.N1475H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1475					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGACTATATAATGACGGTTT	0.448																																																	0													102	102	102					X																	135430288		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4423A>C	X.37:g.135430288A>C	ENSP00000377699:p.Asn1475His		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N1475H	ENST00000394143.1	37	c.4423	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	6.147	0.395366	0.11638	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32988	1.47;1.47;1.43;1.57;1.43	2.81	-2.01	0.07410	.	.	.	.	.	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.004;0.009;0.005	B;B;B	0.10450	0.003;0.005;0.002	T	0.23511	-1.0186	9	0.30854	T	0.27	.	3.3458	0.07134	0.509:0.2089:0.282:0.0	.	1412;1270;1475	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	1475;1475;1270;1412;1270	ENSP00000377699:N1475H;ENSP00000359686:N1475H;ENSP00000416526:N1270H;ENSP00000287534:N1412H;ENSP00000377697:N1270H	ENSP00000287534:N1412H	N	+	1	0	GPR112	135257954	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.188000	0.17018	-0.677000	0.05231	0.378000	0.23410	AAT	GPR112	-	NULL		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135430288	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.000	C	C	135430288	A	C	135430288	3	2	49	1	0	0	0	0	1	0	0	0	6648	362	13	5	4433	5	GPR112	23	135430288	Missense_Mutation	SNP	A	TCGA-C5-A7UE-01A-11D-A33O-09	719050	135430288	19840272	150	6648										
PLXNA3	55558	genome.wustl.edu	37	chrX	153694021	153694021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	cctcctgtacaagtgctgggCgcagcggcccagctgtggcc	14	15	0	0			TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:153694021C>T	ENST00000369682.3	+	13	2538	c.2363C>T	c.(2362-2364)gCg>gTg	p.A788V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	788					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTGCTGGGCGCAGCGGCCC	0.647																																																	0													49	52	51					X																	153694021		2203	4299	6502	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2363C>T	X.37:g.153694021C>T	ENSP00000358696:p.Ala788Val		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A788V	ENST00000369682.3	37	c.2363	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187539	0.78789	.	.	ENSG00000130827	ENST00000369682	T	0.58797	0.31	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	L	0.60957	1.885	0.80722	D	1	D	0.56287	0.975	P	0.58130	0.833	T	0.65224	-0.6220	10	0.29301	T	0.29	.	17.2911	0.87157	0.0:1.0:0.0:0.0	.	788	P51805	PLXA3_HUMAN	V	788	ENSP00000358696:A788V	ENSP00000358696:A788V	A	+	2	0	PLXNA3	153347215	1.000000	0.71417	0.939000	0.37840	0.569000	0.35902	4.943000	0.63554	2.350000	0.79820	0.529000	0.55759	GCG	PLXNA3	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.647	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153694021	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153694021	C	T	153694021	3	4	49	1	0	0	0	0	1	0	0	0	12145	768	27	2	2409	2	PLXNA3	23	153694021	Missense_Mutation	SNP	C	TCGA-C5-A7UE-01A-11D-A33O-09	18263733	153694021	1576539	151	6649										
F8	2157	genome.wustl.edu	37	chrX	154158444	154158444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.131578947368421	20	0.0313607183396981	1.60361549789265	3.27695340873716	1.06154828733739	1	1	8	tgaatttttttttcttgattGtgtgtattattttcatgtaa	6	2	2	2	rs28370212	byFrequency	TCGA-C5-A7UE-01A-11D-A33O-09	TCGA-C5-A7UE-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89a68ab1-97ef-4177-aa15-ad90f387109b	f9e9f417-3040-409e-9c2f-d8b7f71f0452	g.chrX:154158444G>T	ENST00000360256.4	-	14	3821	c.3621C>A	c.(3619-3621)caC>caA	p.H1207Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1207	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCTTGATTGTGTGTATTAT	0.328																																																	0													27	26	27					X																	154158444		2203	4292	6495	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3621C>A	X.37:g.154158444G>T	ENSP00000353393:p.His1207Gln		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.H1207Q	ENST00000360256.4	37	c.3621	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	2.871	-0.233981	0.05983	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	5.87	-1.08	0.09936	.	1.469460	0.03480	N	0.214939	D	0.95928	0.8674	N	0.25890	0.77	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	D	0.92115	0.5699	10	0.27082	T	0.32	0.4043	3.4584	0.07524	0.0923:0.3256:0.3818:0.2003	.	1207	P00451	FA8_HUMAN	Q	1207	ENSP00000353393:H1207Q	ENSP00000353393:H1207Q	H	-	3	2	F8	153811638	0.015000	0.18098	0.000000	0.03702	0.287000	0.27160	0.239000	0.18023	-0.055000	0.13244	0.597000	0.82753	CAC	F8	-	NULL		0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154158444	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.000	T	T	154158444	G	T	154158444	3	4	49	1	0	0	0	0	1	0	0	0	5362	1368	48	4	3514	4	F8	23	154158444	Missense_Mutation	SNP	G	TCGA-C5-A7UE-01A-11D-A33O-09	464423	154158444	1112116	152	6650										
SLC30A2	7780	genome.wustl.edu	37	chr1	26368273	26368273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gagaagacgaaggtgcagatGgggtctacatacttgtattc	13	6	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:26368273G>A	ENST00000374278.3	-	5	825	c.609C>T	c.(607-609)ccC>ccT	p.P203P	SLC30A2_ENST00000498060.1_5'Flank|SLC30A2_ENST00000374276.3_Silent_p.P252P	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	203					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCAGATGGGGTCTACAT	0.542																																																	0													158	120	133					1																	26368273		2203	4300	6503	SO:0001819	synonymous_variant	7780			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.609C>T	1.37:g.26368273G>A			Q71RC8	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.P252	ENST00000374278.3	37	c.756	CCDS272.1	1																																																																																			SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.542	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1	G	NM_032513		26368273	-1	no_errors	ENST00000374276	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26368273	G	A	26368273	2	1	50	1	0	0	0	0	0	0	0	1	14585	1335	47	4		4	SLC30A2	1	26368273	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		26368273	222882348	1	6651										
HECTD3	79654	genome.wustl.edu	37	chr1	45471529	45471529	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tcctcaccagaaagctgcttCcacacaaaaccaggcagggc	8	15	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:45471529C>T	ENST00000372172.4	-	15	1943	c.1872G>A	c.(1870-1872)tgG>tgA	p.W624*	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Nonsense_Mutation_p.W234*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	624	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AAAGCTGCTTCCACACAAAAC	0.582																																																	0													87	89	88					1																	45471529		2105	4215	6320	SO:0001587	stop_gained	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1872G>A	1.37:g.45471529C>T	ENSP00000361245:p.Trp624*		B3KPV7|B3KRH4|Q5T448|Q9H783	Nonsense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.W624*	ENST00000372172.4	37	c.1872	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	38	7.066344	0.98040	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.07	5.07	0.68467	.	0.112211	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6251	0.91334	0.0:1.0:0.0:0.0	.	.	.	.	X	624;234	.	ENSP00000361241:W234X	W	-	3	0	HECTD3	45244116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.222000	0.78025	2.623000	0.88846	0.561000	0.74099	TGG	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45471529	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	45471529	C	T	45471529	4	4	50	1	0	0	0	0	0	1	0	0	7061	856	30	1	741	1	HECTD3	1	45471529	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	19103256	45471529	203779092	2	6652										
CC2D1B	200014	genome.wustl.edu	37	chr1	52821305	52821305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tagggtagtgaaactcaaacCgcacaaaagcatccaggtca	9	10	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:52821305C>T	ENST00000371586.2	-	20	2318	c.2180G>A	c.(2179-2181)cGg>cAg	p.R727Q	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R721Q|CC2D1B_ENST00000438831.1_Missense_Mutation_p.R102Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	727	C2.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AAACTCAAACCGCACAAAAGC	0.547																																																	0													65	64	64					1																	52821305		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2180G>A	1.37:g.52821305C>T	ENSP00000360642:p.Arg727Gln		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R727Q	ENST00000371586.2	37	c.2180	CCDS30714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.20|17.20	3.329301|3.329301	0.60743|0.60743	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	.|T;T;T	.|0.25912	.|1.77;1.77;1.77	4.68|4.68	4.68|4.68	0.58851|0.58851	.|C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.205916	.|0.39146	.|N	.|0.001448	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.59436|0.59436	1.845|1.845	0.42732|0.42732	D|D	0.993713|0.993713	.|D;D;D	.|0.69078	.|0.997;0.996;0.997	.|P;P;P	.|0.58391	.|0.838;0.749;0.838	T|T	0.10132|0.10132	-1.0643|-1.0643	5|10	.|0.46703	.|T	.|0.11	-18.0576|-18.0576	6.1999|6.1999	0.20569|0.20569	0.0:0.7747:0.0:0.2253|0.0:0.7747:0.0:0.2253	.|.	.|507;721;727	.|Q5T0G1;Q5T0F9-2;Q5T0F9	.|.;.;C2D1B_HUMAN	S|Q	508;641|727;721;635;102	.|ENSP00000360642:R727Q;ENSP00000284376:R721Q;ENSP00000406300:R102Q	.|ENSP00000284376:R721Q	G|R	-|-	1|2	0|0	CC2D1B|CC2D1B	52593893|52593893	0.975000|0.975000	0.34042|0.34042	1.000000|1.000000	0.80357|0.80357	0.577000|0.577000	0.36160|0.36160	1.865000|1.865000	0.39479|0.39479	2.598000|2.598000	0.87819|0.87819	0.561000|0.561000	0.74099|0.74099	GGT|CGG	CC2D1B	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.547	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	C	NM_032449		52821305	-1	no_errors	ENST00000371586	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52821305	C	T	52821305	3	4	50	1	0	0	0	0	1	0	0	0	2732	652	23	2	416	2	CC2D1B	1	52821305	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	7349776	52821305	196429316	3	6653										
CELSR2	1952	genome.wustl.edu	37	chr1	109792835	109792835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttccttggggtccaggggacGaggctcttcgggggcctgcg	18	11	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:109792835G>A	ENST00000271332.3	+	1	195	c.134G>A	c.(133-135)cGa>cAa	p.R45Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	45					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCAGGGGACGAGGCTCTTCG	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)												0													25	28	27					1																	109792835		2202	4297	6499	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.134G>A	1.37:g.109792835G>A	ENSP00000271332:p.Arg45Gln		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R45Q	ENST00000271332.3	37	c.134	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	10.22	1.291124	0.23564	.	.	ENSG00000143126	ENST00000271332	T	0.67865	-0.29	5.05	3.06	0.35304	.	.	.	.	.	T	0.22003	0.0530	N	0.08118	0	0.09310	N	1	B	0.31040	0.305	B	0.20767	0.031	T	0.03555	-1.1025	9	0.13853	T	0.58	.	12.3834	0.55320	0.0:0.1259:0.7444:0.1297	.	45	Q9HCU4	CELR2_HUMAN	Q	45	ENSP00000271332:R45Q	ENSP00000271332:R45Q	R	+	2	0	CELSR2	109594358	0.086000	0.21541	0.985000	0.45067	0.058000	0.15608	1.244000	0.32778	2.360000	0.80028	0.505000	0.49811	CGA	CELSR2	-	NULL		0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109792835	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.226	A	A	109792835	G	A	109792835	3	1	50	1	0	0	0	0	1	0	0	0	3227	1058	37	1	136	1	CELSR2	1	109792835	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	56971530	109792835	139457786	4	6654										
AHCYL1	10768	genome.wustl.edu	37	chr1	110559006	110559006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgggaagctctgtgttccgGccatgaacgtcaatgattct	11	10	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:110559006G>A	ENST00000369799.5	+	8	1190	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A228T|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A228T	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	275					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGTGTTCCGGCCATGAACGT	0.403																																																	0													94	100	98					1																	110559006		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.823G>A	1.37:g.110559006G>A	ENSP00000358814:p.Ala275Thr		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.A275T	ENST00000369799.5	37	c.823	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.125865	0.94429	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.83163	-1.69;-1.69;-1.69	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94898	0.8054	10	0.87932	D	0	-19.1525	20.1649	0.98147	0.0:0.0:1.0:0.0	.	275	O43865	SAHH2_HUMAN	T	275;228;228	ENSP00000358814:A275T;ENSP00000352092:A228T;ENSP00000377238:A228T	ENSP00000352092:A228T	A	+	1	0	AHCYL1	110360529	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GCC	AHCYL1	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.403	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1	G			110559006	1	no_errors	ENST00000369799	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110559006	G	A	110559006	3	1	50	1	0	0	0	0	1	0	0	0	410	1203	42	4	853	4	AHCYL1	1	110559006	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	766171	110559006	138691615	5	6655										
CD58	965	genome.wustl.edu	37	chr1	117086981	117086981	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atcagtaatatttggcgattCcatttcatactcatcttcat	4	9	5	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:117086981C>A	ENST00000369489.5	-	2	382	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	CD58_ENST00000457047.2_Nonsense_Mutation_p.E106*|CD58_ENST00000369487.3_Nonsense_Mutation_p.E106*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	106	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TTTGGCGATTCCATTTCATAC	0.318																																																	0													87	91	89					1																	117086981		2203	4300	6503	SO:0001587	stop_gained	965			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.316G>T	1.37:g.117086981C>A	ENSP00000358501:p.Glu106*		A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	NULL	p.E106*	ENST00000369489.5	37	c.316	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616604	0.66672	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	.	.	.	3.71	1.67	0.24075	.	1.536140	0.04109	N	0.314332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.2357	6.1629	0.20373	0.2161:0.5744:0.2095:0.0	.	.	.	.	X	106;106;78;106	.	ENSP00000358499:E106X	E	-	1	0	CD58	116888504	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.410000	0.21098	0.295000	0.22570	0.561000	0.74099	GAA	CD58	-	NULL		0.318	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD58	HGNC	protein_coding	OTTHUMT00000059036.1	C	NM_001779		117086981	-1	no_errors	ENST00000369489	ensembl	human	known	70_37	nonsense	SNP	0.003	A	A	117086981	C	A	117086981	4	1	50	1	0	0	0	0	0	1	0	0	3030	864	30	3	460	3	CD58	1	117086981	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	6527975	117086981	132163640	6	6656										
FLG2	388698	genome.wustl.edu	37	chr1	152324999	152324999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggattctgactctccatgttGagatctggcttggccatgag	12	9	3	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:152324999G>C	ENST00000388718.5	-	3	5335	c.5263C>G	c.(5263-5265)Caa>Gaa	p.Q1755E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1755					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCATGTTGAGATCTGGCT	0.498																																																	0													394	344	361					1																	152324999		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5263C>G	1.37:g.152324999G>C	ENSP00000373370:p.Gln1755Glu		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q1755E	ENST00000388718.5	37	c.5263	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	0.852	-0.738315	0.03111	.	.	ENSG00000143520	ENST00000388718	T	0.06933	3.24	3.67	1.68	0.24146	.	.	.	.	.	T	0.02012	0.0063	L	0.55481	1.735	0.19300	N	0.999977	B	0.24618	0.107	B	0.19666	0.026	T	0.47433	-0.9118	9	0.05833	T	0.94	-0.5338	9.9868	0.41846	0.0:0.3995:0.6005:0.0	.	1755	Q5D862	FILA2_HUMAN	E	1755	ENSP00000373370:Q1755E	ENSP00000373370:Q1755E	Q	-	1	0	FLG2	150591623	0.000000	0.05858	0.230000	0.23976	0.039000	0.13416	0.328000	0.19681	0.311000	0.23014	0.196000	0.17591	CAA	FLG2	-	prints_Filaggrin		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152324999	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.752	C	C	152324999	G	C	152324999	3	2	50	1	0	0	0	0	1	0	0	0	5941	1299	45	1	1916	1	FLG2	1	152324999	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	35238018	152324999	96925622	7	6657										
FLG2	388698	genome.wustl.edu	37	chr1	152325017	152325017	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgagatctggcttggccatGagtgtgtcctgaatgtgtat	13	6	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:152325017G>A	ENST00000388718.5	-	3	5317	c.5245C>T	c.(5245-5247)Cat>Tat	p.H1749Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1749					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGGCCATGAGTGTGTCCT	0.502																																																	0													411	361	378					1																	152325017		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5245C>T	1.37:g.152325017G>A	ENSP00000373370:p.His1749Tyr		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.H1749Y	ENST00000388718.5	37	c.5245	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	1.433	-0.569748	0.03910	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.97	3.05	0.35203	.	.	.	.	.	T	0.03095	0.0091	L	0.58101	1.795	0.09310	N	1	B	0.30193	0.272	B	0.17722	0.019	T	0.34030	-0.9845	9	0.59425	D	0.04	-0.6345	7.6814	0.28515	0.1187:0.0:0.8813:0.0	.	1749	Q5D862	FILA2_HUMAN	Y	1749	ENSP00000373370:H1749Y	ENSP00000373370:H1749Y	H	-	1	0	FLG2	150591641	0.001000	0.12720	0.009000	0.14445	0.398000	0.30690	0.364000	0.20325	1.034000	0.39945	0.400000	0.26472	CAT	FLG2	-	prints_Filaggrin		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152325017	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.024	A	A	152325017	G	A	152325017	3	1	50	1	0	0	0	0	1	0	0	0	5941	1290	45	1	1934	1	FLG2	1	152325017	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	18	152325017	96925604	8	6658										
RUSC1	23623	genome.wustl.edu	37	chr1	155291885	155291885	+	Missense_Mutation	SNP	C	C	G													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggctgctcctcctcactcagCtcctgctcagatcttagccc							TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:155291885C>G	ENST00000368352.5	+	2	472	c.321C>G	c.(319-321)agC>agG	p.S107R	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S107R|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	107					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCACTCAGCTCCTGCTCAG	0.637																																																	0													45	48	47					1																	155291885		2058	4197	6255	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.321C>G	1.37:g.155291885C>G	ENSP00000357336:p.Ser107Arg		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.S107R	ENST00000368352.5	37	c.321	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649941	0.67472	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.29397	1.59;1.57	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000010	T	0.28830	0.0715	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.19353	-1.0308	10	0.87932	D	0	-2.6215	14.7087	0.69211	0.0:1.0:0.0:0.0	.	107	Q9BVN2	RUSC1_HUMAN	R	107	ENSP00000357338:S107R;ENSP00000357336:S107R	ENSP00000357336:S107R	S	+	3	2	RUSC1	153558509	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.764000	0.38471	2.326000	0.78906	0.561000	0.74099	AGC	RUSC1	-	NULL		0.637	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155291885	1	no_errors	ENST00000368352	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155291885	C	G	155291885	3	3	50	1	0	0	0	0	1	0	0	0	13780	796	28	4	323	4	RUSC1	1	155291885	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2966868	155291885	93958736	9	6659	31	2								
RUSC1	23623	genome.wustl.edu	37	chr1	155291887	155291887	+	Missense_Mutation	SNP	C	C	T													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgctcctcctcactcagctCctgctcagatcttagccccg							TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:155291887C>T	ENST00000368352.5	+	2	474	c.323C>T	c.(322-324)tCc>tTc	p.S108F	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S108F|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	108					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.S108C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCACTCAGCTCCTGCTCAGAT	0.632																																																	1	Substitution - Missense(1)	breast(1)											46	49	48					1																	155291887		2061	4196	6257	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.323C>T	1.37:g.155291887C>T	ENSP00000357336:p.Ser108Phe		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.S108F	ENST00000368352.5	37	c.323	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545832	0.65198	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.30182	1.55;1.54	4.49	4.49	0.54785	.	0.139126	0.33712	N	0.004633	T	0.22244	0.0536	N	0.24115	0.695	0.80722	D	1	P	0.52316	0.952	P	0.52267	0.694	T	0.04537	-1.0944	10	0.87932	D	0	-15.4718	14.7087	0.69211	0.0:1.0:0.0:0.0	.	108	Q9BVN2	RUSC1_HUMAN	F	108	ENSP00000357338:S108F;ENSP00000357336:S108F	ENSP00000357336:S108F	S	+	2	0	RUSC1	153558511	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.900000	0.56295	2.326000	0.78906	0.561000	0.74099	TCC	RUSC1	-	NULL		0.632	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155291887	1	no_errors	ENST00000368352	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155291887	C	T	155291887	3	4	50	1	0	0	0	0	1	0	0	0	13780	855	30	1	325	1	RUSC1	1	155291887	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2	155291887	93958734	10	6660	31	2								
PYHIN1	149628	genome.wustl.edu	37	chr1	158908876	158908876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	taaactacttgtagaaaagaAaaaaaccatctgaagaagag	7	5	1	5			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:158908876A>C	ENST00000368140.1	+	4	663	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	PYHIN1_ENST00000392252.3_Missense_Mutation_p.K131Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K131Q|PYHIN1_ENST00000368135.4_Missense_Mutation_p.K140Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K140Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	140					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTAGAAAAGAAAAAAACCATC	0.373																																																	0													41	42	42					1																	158908876		2203	4300	6503	SO:0001583	missense	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.418A>C	1.37:g.158908876A>C	ENSP00000357122:p.Lys140Gln		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K140Q	ENST00000368140.1	37	c.418	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	A	8.409	0.843733	0.16963	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.37752	1.18;3.11;3.33;3.14;3.33;1.3	2.27	-0.12	0.13539	.	.	.	.	.	T	0.29126	0.0724	M	0.66939	2.045	0.09310	N	1	P;P;D;P;B	0.55800	0.889;0.484;0.973;0.954;0.241	P;B;P;P;B	0.56823	0.603;0.223;0.807;0.646;0.147	T	0.08513	-1.0718	9	0.72032	D	0.01	.	4.3748	0.11265	0.6545:0.0:0.3455:0.0	.	131;140;131;140;140	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	Q	140;140;131;140;131;140	ENSP00000407616:K140Q;ENSP00000357122:K140Q;ENSP00000357120:K131Q;ENSP00000376083:K140Q;ENSP00000376082:K131Q;ENSP00000357117:K140Q	ENSP00000357117:K140Q	K	+	1	0	PYHIN1	157175500	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.450000	0.21762	-0.050000	0.13356	-0.385000	0.06624	AAA	PYHIN1	-	NULL		0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	A	NM_152501		158908876	1	no_errors	ENST00000368140	ensembl	human	known	70_37	missense	SNP	0.002	C	C	158908876	A	C	158908876	3	2	50	1	0	0	0	0	1	0	0	0	12895	15	1	5	428	5	PYHIN1	1	158908876	Missense_Mutation	SNP	A	TCGA-C5-A7UH-01A-11D-A351-09	3616989	158908876	90341745	11	6661										
PRDX6	9588	genome.wustl.edu	37	chr1	173455459	173455459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tacccagctaccactggcagGaactttgatgagattctcag	9	11	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:173455459G>A	ENST00000340385.5	+	4	597	c.465G>A	c.(463-465)agG>agA	p.R155R	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	155	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCACTGGCAGGAACTTTGATG	0.438																																																	0													155	162	160					1																	173455459		2203	4300	6503	SO:0001819	synonymous_variant	9588			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.465G>A	1.37:g.173455459G>A			A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Silent	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.R155	ENST00000340385.5	37	c.465	CCDS1307.1	1																																																																																			PRDX6	-	superfamily_Thioredoxin-like_fold		0.438	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX6	HGNC	protein_coding	OTTHUMT00000084222.1	G	NM_004905		173455459	1	no_errors	ENST00000340385	ensembl	human	known	70_37	silent	SNP	0.956	A	A	173455459	G	A	173455459	2	1	50	1	0	0	0	0	0	0	0	1	12496	1165	41	1		1	PRDX6	1	173455459	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	14546583	173455459	75795162	12	6662										
LAMC1	3915	genome.wustl.edu	37	chr1	183090971	183090971	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gatatggagggcagttttgtGagatgtgcctctcaggttac	14	6	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:183090971G>C	ENST00000258341.4	+	12	2361	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	702	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCAGTTTTGTGAGATGTGCCT	0.547																																																	0													172	153	159					1																	183090971		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2104G>C	1.37:g.183090971G>C	ENSP00000258341:p.Glu702Gln		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E702Q	ENST00000258341.4	37	c.2104	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828915	0.71258	.	.	ENSG00000135862	ENST00000258341	T	0.37235	1.21	5.17	4.22	0.49857	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.65320	2	0.80722	D	1	P	0.42961	0.795	P	0.46975	0.533	T	0.52917	-0.8511	10	0.87932	D	0	.	15.7549	0.78015	0.0:0.1362:0.8638:0.0	.	702	P11047	LAMC1_HUMAN	Q	702	ENSP00000258341:E702Q	ENSP00000258341:E702Q	E	+	1	0	LAMC1	181357594	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	6.880000	0.75578	2.402000	0.81655	0.655000	0.94253	GAG	LAMC1	-	NULL		0.547	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	G	NM_002293		183090971	1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	1.000	C	C	183090971	G	C	183090971	3	2	50	1	0	0	0	0	1	0	0	0	8634	1291	45	1	2150	1	LAMC1	1	183090971	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	9635512	183090971	66159650	13	6663										
FAM5C	339479	genome.wustl.edu	37	chr1	190067983	190067983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgagatcttgcaggtcagttTcaaagccaatatagtgatcg	10	8	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:190067983T>C	ENST00000367462.3	-	8	1697	c.1466A>G	c.(1465-1467)gAa>gGa	p.E489G	BRINP3_ENST00000534846.1_Missense_Mutation_p.E387G	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	489					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAGGTCAGTTTCAAAGCCAAT	0.517																																																	0													157	156	156					1																	190067983		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1466A>G	1.37:g.190067983T>C	ENSP00000356432:p.Glu489Gly		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.E489G	ENST00000367462.3	37	c.1466	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656224	0.67586	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.55588	0.51;0.51	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.968	T	0.74231	-0.3732	10	0.72032	D	0.01	.	14.0112	0.64498	0.0:0.0:0.0:1.0	.	387;489	B7Z260;Q76B58	.;FAM5C_HUMAN	G	489;387	ENSP00000356432:E489G;ENSP00000438022:E387G	ENSP00000356432:E489G	E	-	2	0	FAM5C	188334606	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.953000	0.87836	2.190000	0.69967	0.482000	0.46254	GAA	FAM5C	-	NULL		0.517	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	T	NM_199051		190067983	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	missense	SNP	1.000	C	C	190067983	T	C	190067983	3	2	50	1	0	0	0	0	1	0	0	0	5612	1783	62	5	838	5	FAM5C	1	190067983	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	6977012	190067983	59182638	14	6664										
PLEKHA6	22874	genome.wustl.edu	37	chr1	204214745	204214745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcacaggaggcacccacctCtgtgcttggcggtgtccgtg	15	13	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:204214745C>T	ENST00000272203.3	-	14	2346	c.2030G>A	c.(2029-2031)aGa>aAa	p.R677K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R697K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	677										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCACCCACCTCTGTGCTTGGC	0.607																																																	0													85	75	79					1																	204214745		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2030G>A	1.37:g.204214745C>T	ENSP00000272203:p.Arg677Lys		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R677K	ENST00000272203.3	37	c.2030	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738876	0.49045	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.30981	1.51;1.51	5.13	5.13	0.70059	.	0.871120	0.10228	N	0.700107	T	0.32164	0.0820	L	0.60455	1.87	0.45452	D	0.998426	B	0.23377	0.084	B	0.21360	0.034	T	0.35968	-0.9767	10	0.05721	T	0.95	-3.2304	18.1807	0.89777	0.0:1.0:0.0:0.0	.	677	Q9Y2H5	PKHA6_HUMAN	K	677;697	ENSP00000272203:R677K;ENSP00000402046:R697K	ENSP00000272203:R677K	R	-	2	0	PLEKHA6	202481368	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.387000	0.52501	2.406000	0.81754	0.563000	0.77884	AGA	PLEKHA6	-	NULL		0.607	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	C	NM_014935		204214745	-1	no_errors	ENST00000272203	ensembl	human	known	70_37	missense	SNP	1.000	T	T	204214745	C	T	204214745	3	4	50	1	0	0	0	0	1	0	0	0	12084	913	32	1	1152	1	PLEKHA6	1	204214745	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	14146762	204214745	45035876	15	6665										
CD34	947	genome.wustl.edu	37	chr1	208062063	208062063	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gggctccagctgcggcgattCatcaggaaatagccagtgat	13	10	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:208062063C>T	ENST00000310833.7	-	7	1257	c.936G>A	c.(934-936)atG>atA	p.M312I	CD34_ENST00000367036.3_Missense_Mutation_p.M154I|CD34_ENST00000356522.4_Missense_Mutation_p.M312I|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.M177I	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	312					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGCGGCGATTCATCAGGAAAT	0.557																																																	0													198	215	210					1																	208062063		2203	4300	6503	SO:0001583	missense	947			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.936G>A	1.37:g.208062063C>T	ENSP00000310036:p.Met312Ile		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.M312I	ENST00000310833.7	37	c.936	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437394	0.83885	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.54	4.54	0.55810	.	0.215631	0.46758	D	0.000261	T	0.44201	0.1282	M	0.72118	2.19	0.40870	D	0.983902	D;D;D;D	0.69078	0.985;0.996;0.997;0.969	D;D;D;D	0.79108	0.977;0.991;0.992;0.968	T	0.43343	-0.9397	10	0.72032	D	0.01	-18.1461	13.0066	0.58707	0.0:1.0:0.0:0.0	.	177;312;312;154	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	I	312;312;154;177;282	ENSP00000310036:M312I;ENSP00000348916:M312I;ENSP00000356003:M154I;ENSP00000442874:M177I	ENSP00000310036:M312I	M	-	3	0	CD34	206128686	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	ATG	CD34	-	pfam_CD34/Podocalyxin,prints_CD34		0.557	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	C	NM_001773		208062063	-1	no_errors	ENST00000310833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	208062063	C	T	208062063	3	4	50	1	0	0	0	0	1	0	0	0	3011	826	29	1	248	1	CD34	1	208062063	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3847318	208062063	41188558	16	6666										
USH2A	7399	genome.wustl.edu	37	chr1	216138803	216138803	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgttccttcaggaggagcttCtagagttcgattttccacct	9	10	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:216138803C>G	ENST00000307340.3	-	37	7362	c.6976G>C	c.(6976-6978)Gaa>Caa	p.E2326Q	USH2A_ENST00000366943.2_Missense_Mutation_p.E2326Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2326	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGGAGCTTCTAGAGTTCGA	0.398										HNSCC(13;0.011)																																							0													118	117	118					1																	216138803		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6976G>C	1.37:g.216138803C>G	ENSP00000305941:p.Glu2326Gln		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E2326Q	ENST00000307340.3	37	c.6976	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397723	0.83120	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55760	0.5;0.5	5.23	5.23	0.72850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000317	T	0.69797	0.3151	L	0.59912	1.85	0.51233	D	0.999914	D	0.89917	1.0	D	0.83275	0.996	T	0.65869	-0.6063	10	0.33141	T	0.24	.	19.197	0.93693	0.0:1.0:0.0:0.0	.	2326	O75445	USH2A_HUMAN	Q	2326	ENSP00000305941:E2326Q;ENSP00000355910:E2326Q	ENSP00000305941:E2326Q	E	-	1	0	USH2A	214205426	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	6.154000	0.71826	2.605000	0.88082	0.655000	0.94253	GAA	USH2A	-	superfamily_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216138803	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.998	G	G	216138803	C	G	216138803	3	3	50	1	0	0	0	0	1	0	0	0	17067	922	32	1	8776	1	USH2A	1	216138803	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	8076740	216138803	33111818	17	6667										
EPRS	2058	genome.wustl.edu	37	chr1	220205772	220205772	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	catcccacttggtacctactGactggaaggcctgctgggct	11	13	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:220205772G>A	ENST00000366923.3	-	5	754	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	162					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGTACCTACTGACTGGAAGGC	0.433																																																	0													110	101	104					1																	220205772		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.485C>T	1.37:g.220205772G>A	ENSP00000355890:p.Ser162Leu		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.S162L	ENST00000366923.3	37	c.485	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831893	0.50845	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.07114	3.22	5.84	3.96	0.45880	Glutathione S-transferase, C-terminal-like (2);	0.125334	0.56097	N	0.000039	T	0.12689	0.0308	M	0.77820	2.39	0.40680	D	0.982291	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.02781	-1.1111	10	0.40728	T	0.16	-7.8305	11.4192	0.49971	0.1428:0.0:0.8572:0.0	.	162;162	Q3KQZ8;P07814	.;SYEP_HUMAN	L	162	ENSP00000355890:S162L	ENSP00000355890:S162L	S	-	2	0	EPRS	218272395	1.000000	0.71417	0.769000	0.31535	0.795000	0.44927	3.718000	0.54919	1.485000	0.48380	0.557000	0.71058	TCA	EPRS	-	superfamily_Glutathione-S-Trfase_C-like		0.433	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220205772	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	0.994	A	A	220205772	G	A	220205772	3	1	50	1	0	0	0	0	1	0	0	0	5203	1294	45	1	4165	1	EPRS	1	220205772	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	4066969	220205772	29044849	18	6668										
JMJD4	65094	genome.wustl.edu	37	chr1	227920351	227920351	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tggtaaaactcttcaaagttGatgcccgagcaggacctcat	9	10	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:227920351G>C	ENST00000366758.3	-	6	1133	c.1134C>G	c.(1132-1134)atC>atG	p.I378M	JMJD4_ENST00000438896.2_Missense_Mutation_p.I362M|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	378										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTTCAAAGTTGATGCCCGAGC	0.582																																																	0													67	61	63					1																	227920351		2203	4300	6503	SO:0001583	missense	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1134C>G	1.37:g.227920351G>C	ENSP00000355720:p.Ile378Met		Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I378M	ENST00000366758.3	37	c.1134	CCDS1561.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.984|9.984	1.228885|1.228885	0.22542|0.22542	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	5.01|5.01	1.66|1.66	0.24008|0.24008	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59211|.	0.2177|.	M|M	0.68317|0.68317	2.08|2.08	0.44409|0.44409	D|D	0.997321|0.997321	B;B|.	0.31548|.	0.328;0.086|.	B;B|.	0.34038|.	0.174;0.057|.	T|.	0.54735|.	-0.8249|.	10|.	0.15066|.	T|.	0.55|.	-41.3494|-41.3494	5.1679|5.1679	0.15096|0.15096	0.209:0.0:0.6254:0.1656|0.209:0.0:0.6254:0.1656	.|.	362;378|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	M|X	378|355	ENSP00000355720:I378M|.	ENSP00000355720:I378M|.	I|S	-|-	3|2	3|0	JMJD4|JMJD4	225986974|225986974	0.998000|0.998000	0.40836|0.40836	0.971000|0.971000	0.41717|0.41717	0.988000|0.988000	0.76386|0.76386	0.225000|0.225000	0.17757|0.17757	0.593000|0.593000	0.29745|0.29745	0.655000|0.655000	0.94253|0.94253	ATC|TCA	JMJD4	-	NULL		0.582	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD4	HGNC	protein_coding	OTTHUMT00000091970.1	G	NM_023007		227920351	-1	no_errors	ENST00000366758	ensembl	human	known	70_37	missense	SNP	1.000	C	C	227920351	G	C	227920351	3	2	50	1	0	0	0	0	1	0	0	0	7971	1280	45	1	261	1	JMJD4	1	227920351	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7714579	227920351	21330270	19	6669										
C1orf131	8443	genome.wustl.edu	37	chr1	231376871	231376871	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcgacattgtggggtcagccGaggaatcaaccctcattctg	12	11	4	0	rs531305779		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:231376871G>A	ENST00000366647.4	+	0	0				C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_Missense_Mutation_p.S6L|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000366649.2_Missense_Mutation_p.S6L|C1orf131_ENST00000366651.3_Missense_Mutation_p.S6L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGGGTCAGCCGAGGAATCAAC	0.652																																																	0													83	85	84					1																	231376871		2203	4300	6503	SO:0001631	upstream_gene_variant	128061			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231376871G>A	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	NULL	p.S6L	ENST00000366647.4	37	c.17	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371725	0.42003	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.49139	0.8;0.79;0.8	4.33	-1.33	0.09172	.	2.067450	0.02305	N	0.071541	T	0.31327	0.0793	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.18310	0.002;0.027;0.002;0.002;0.002	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001	T	0.18935	-1.0321	10	0.72032	D	0.01	.	1.5761	0.02624	0.202:0.3319:0.3203:0.1457	.	6;6;6;6;6	B4E0F7;Q8NDD1-4;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;.;CA131_HUMAN;.;.	L	6	ENSP00000355609:S6L;ENSP00000321341:S6L;ENSP00000355611:S6L	ENSP00000321341:S6L	S	-	2	0	C1orf131	229443494	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.125000	0.10579	-0.483000	0.06772	-0.266000	0.10368	TCG	C1orf131	-	NULL		0.652	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	G			231376871	-1	no_errors	ENST00000366649	ensembl	human	known	70_37	missense	SNP	0.001	A	A	231376871	G	A	231376871	1	1	50	0	1	0	0	0	0	0	0	0	2003	1059	37	1		1	C1orf131	1	231376871	5'Flank	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	3456520	231376871	17873750	20	6670										
KIAA1804	84451	genome.wustl.edu	37	chr1	233514845	233514845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcagcctctgcgaatgctgCcacagtctccattgagatga	11	12	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:233514845C>T	ENST00000366624.3	+	9	2354	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	MLK4_ENST00000366622.1_Missense_Mutation_p.A144V	NM_032435.2	NP_115811.2																					GCGAATGCTGCCACAGTCTCC	0.522																																																	0													62	69	67					1																	233514845		2203	4300	6503	SO:0001583	missense	84451																														ENST00000366624.3:c.2093C>T	1.37:g.233514845C>T	ENSP00000355583:p.Ala698Val			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.A698V	ENST00000366624.3	37	c.2093	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479374	0.26511	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.37915	1.17;1.17	4.83	1.98	0.26296	.	0.716510	0.13171	N	0.408255	T	0.30792	0.0776	L	0.52011	1.625	0.21841	N	0.999512	B;B	0.30281	0.275;0.104	B;B	0.26202	0.067;0.04	T	0.17684	-1.0361	10	0.62326	D	0.03	.	9.3816	0.38318	0.0:0.7708:0.0:0.2292	.	145;698	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	V	698;144	ENSP00000355583:A698V;ENSP00000355581:A144V	ENSP00000355581:A144V	A	+	2	0	RP5-862P8.2	231581468	0.996000	0.38824	0.004000	0.12327	0.013000	0.08279	3.686000	0.54685	0.259000	0.21709	0.650000	0.86243	GCC	MLK4	-	pirsf_MAPKKK9/10/11		0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233514845	1	no_errors	ENST00000366624	ensembl	human	known	70_37	missense	SNP	0.685	T	T	233514845	C	T	233514845	3	4	50	1	0	0	0	0	1	0	0	0	8279	739	26	4	2127	4	KIAA1804	1	233514845	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2137974	233514845	15735776	21	6671										
KIAA1804	84451	genome.wustl.edu	37	chr1	233518365	233518365	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tggatgctgacgtggaaggtCagagcagggactacactgtg	16	7	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:233518365C>T	ENST00000366624.3	+	10	3280	c.3019C>T	c.(3019-3021)Cag>Tag	p.Q1007*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Q453*	NM_032435.2	NP_115811.2																					CGTGGAAGGTCAGAGCAGGGA	0.502																																																	0													103	86	92					1																	233518365		2203	4300	6503	SO:0001587	stop_gained	84451																														ENST00000366624.3:c.3019C>T	1.37:g.233518365C>T	ENSP00000355583:p.Gln1007*			Nonsense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q1007*	ENST00000366624.3	37	c.3019	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.069314	0.99330	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.4895	0.84197	0.0:1.0:0.0:0.0	.	.	.	.	X	1007;453	.	ENSP00000355581:Q453X	Q	+	1	0	RP5-862P8.2	231584988	1.000000	0.71417	0.132000	0.22025	0.827000	0.46813	6.810000	0.75216	2.549000	0.85964	0.563000	0.77884	CAG	MLK4	-	pirsf_MAPKKK9/10/11		0.502	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233518365	1	no_errors	ENST00000366624	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	233518365	C	T	233518365	4	4	50	1	0	0	0	0	0	1	0	0	8279	827	29	1	3057	1	KIAA1804	1	233518365	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3520	233518365	15732256	22	6672										
WDR64	128025	genome.wustl.edu	37	chr1	241904939	241904939	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaatattttcatcaagtactCactatctgctctgaatccat	3	10	5	1	rs374361180		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:241904939C>T	ENST00000366552.2	+	11	1620	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	WDR64_ENST00000437684.2_Silent_p.L471L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	471										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATCAAGTACTCACTATCTGCT	0.323																																																	0								C		0,4404		0,0,2202	110	101	104		1413	0.8	1	1		104	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	WDR64	NM_144625.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		471/1082	241904939	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1413C>T	1.37:g.241904939C>T			B1ANT0|Q7Z573|Q96LY9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L471	ENST00000366552.2	37	c.1413		1																																																																																			WDR64	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.323	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		C	NM_144625		241904939	1	no_errors	ENST00000366552	ensembl	human	known	70_37	silent	SNP	0.997	T	T	241904939	C	T	241904939	2	4	50	1	0	0	0	0	0	0	0	1	17346	813	29	1		1	WDR64	1	241904939	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	8386574	241904939	7345682	23	6673										
KIDINS220	57498	genome.wustl.edu	37	chr2	8931324	8931325	+	Frame_Shift_Ins	INS	-	-	CA													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	taaatcatatccaagcatgtINScaccgtctgtttcagtagga							TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:8931324_8931325insCA	ENST00000256707.3	-	13	1487_1488	c.1306_1307insTG	c.(1306-1308)gacfs	p.D436fs	KIDINS220_ENST00000427284.1_Frame_Shift_Ins_p.D436fs|KIDINS220_ENST00000473731.1_Frame_Shift_Ins_p.D436fs|KIDINS220_ENST00000418530.1_Frame_Shift_Ins_p.D394fs|KIDINS220_ENST00000319688.5_Frame_Shift_Ins_p.D437fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	436					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCCAAGCATGTCACCGTCTGTT	0.401																																																	0																																										SO:0001589	frameshift_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1305_1306dupTG	2.37:g.8931325_8931326dupCA	ENSP00000256707:p.Asp436fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Ins	INS	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D436fs	ENST00000256707.3	37	c.1307_1306	CCDS42650.1	2																																																																																			KIDINS220	-	NULL		0.401	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	NM_020738		8931325	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CA	CA	8931325	-	CA	8931324	7	5	50	1	0	1	1	0	0	0	0	0	8291	1667	58	0	4080	0	KIDINS220	2	8931324	Frame_Shift_Ins	INS	-	TCGA-C5-A7UH-01A-11D-A351-09		8931324	234268049	24	6674										
USP34	9736	genome.wustl.edu	37	chr2	61647956	61647956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctgcagtccatcaccacctTctacatctgatactgaaata	5	13	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:61647956T>C	ENST00000398571.2	-	2	132	c.56A>G	c.(55-57)gAa>gGa	p.E19G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	19					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCACCACCTTCTACATCTGA	0.323																																																	0													105	99	101					2																	61647956		1835	4094	5929	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.56A>G	2.37:g.61647956T>C	ENSP00000381577:p.Glu19Gly		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E19G	ENST00000398571.2	37	c.56	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261445	0.59431	.	.	ENSG00000115464	ENST00000398571	T	0.03831	3.79	5.75	5.75	0.90469	.	.	.	.	.	T	0.13628	0.0330	L	0.38175	1.15	0.39862	D	0.973396	D	0.57899	0.981	D	0.65140	0.932	T	0.01232	-1.1411	9	0.72032	D	0.01	.	15.7012	0.77544	0.0:0.0:0.0:1.0	.	19	Q70CQ2	UBP34_HUMAN	G	19	ENSP00000381577:E19G	ENSP00000381577:E19G	E	-	2	0	USP34	61501460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.887000	0.69751	2.194000	0.70268	0.482000	0.46254	GAA	USP34	-	NULL		0.323	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	T			61647956	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61647956	T	C	61647956	3	2	50	1	0	0	0	0	1	0	0	0	17096	1783	62	5	10900	5	USP34	2	61647956	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	52716632	61647956	181551417	25	6675										
GPR39	2863	genome.wustl.edu	37	chr2	133174897	133174897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cccatggagttctacagcatCatctggaatcccctgaccac	7	15	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:133174897C>T	ENST00000329321.3	+	1	751	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	94					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTACAGCATCATCTGGAATC	0.552																																																	0													228	206	214					2																	133174897		2203	4300	6503	SO:0001819	synonymous_variant	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.282C>T	2.37:g.133174897C>T			B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I94	ENST00000329321.3	37	c.282	CCDS2170.1	2																																																																																			GPR39	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	C			133174897	1	no_errors	ENST00000329321	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133174897	C	T	133174897	2	4	50	1	0	0	0	0	0	0	0	1	6712	816	29	1		1	GPR39	2	133174897	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	71526941	133174897	110024476	26	6676										
YSK4	80122	genome.wustl.edu	37	chr2	135745585	135745585	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gaaaagagcacatgtttcttGaccaaatgaagccatcagaa	8	8	2	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:135745585G>A	ENST00000375845.3	-	7	887	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S173L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S303L|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	286							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CATGTTTCTTGACCAAATGAA	0.453																																																	0													100	100	100					2																	135745585		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.857C>T	2.37:g.135745585G>A	ENSP00000365005:p.Ser286Leu		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.S286L	ENST00000375845.3	37	c.857	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790969	0.70452	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.79247	-1.25;-1.17;1.06	4.81	4.81	0.61882	.	0.000000	0.36972	N	0.002313	T	0.75004	0.3791	L	0.47190	1.495	0.80722	D	1	P;D;P	0.55605	0.86;0.972;0.877	P;P;B	0.47075	0.536;0.536;0.335	T	0.78380	-0.2226	10	0.87932	D	0	.	11.7531	0.51859	0.0835:0.0:0.9165:0.0	.	173;303;286	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	286;173;303	ENSP00000365005:S286L;ENSP00000351140:S173L;ENSP00000376647:S303L	ENSP00000351140:S173L	S	-	2	0	YSK4	135462055	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.863000	0.48396	2.480000	0.83734	0.650000	0.86243	TCA	MAP3K19	-	NULL		0.453	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135745585	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.983	A	A	135745585	G	A	135745585	3	1	50	1	0	0	0	0	1	0	0	0	17526	1294	45	1	3145	1	YSK4	2	135745585	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2570688	135745585	107453788	27	6677										
TTN	7273	genome.wustl.edu	37	chr2	179451935	179451935	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agttactctgaagtaatactCattcccagggacaagattgg	9	8	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:179451935C>G	ENST00000591111.1	-	257	59304	c.59080G>C	c.(59080-59082)Gag>Cag	p.E19694Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12462Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12270Q|TTN_ENST00000359218.5_Missense_Mutation_p.E12395Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21335Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18767Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19694	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATACTCATTCCCAGGG	0.453																																																	0													168	169	169					2																	179451935		1943	4140	6083	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59080G>C	2.37:g.179451935C>G	ENSP00000465570:p.Glu19694Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E18767Q	ENST00000591111.1	37	c.56299		2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889942	0.91889	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71978	0.3404	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.71928	-0.4444	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12270;12395;12462;19694	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18767;12270;12462;12395;12268	ENSP00000343764:E18767Q;ENSP00000434586:E12270Q;ENSP00000340554:E12462Q;ENSP00000352154:E12395Q	ENSP00000340554:E12462Q	E	-	1	0	TTN	179160181	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.025000	0.70864	2.835000	0.97688	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179451935	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179451935	C	G	179451935	3	3	50	1	0	0	0	0	1	0	0	0	16766	835	29	1	44200	1	TTN	2	179451935	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	43706350	179451935	63747438	28	6678										
TTN	7273	genome.wustl.edu	37	chr2	179460339	179460339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtaggcttttccttgaatgaGaccctggacagtagcatttt	10	8	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:179460339G>A	ENST00000591111.1	-	245	53043	c.52819C>T	c.(52819-52821)Ctc>Ttc	p.L17607F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10375F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10183F|TTN_ENST00000359218.5_Missense_Mutation_p.L10308F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19248F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16680F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17607	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGAATGAGACCCTGGACA	0.448																																																	0													58	54	55					2																	179460339		1872	4121	5993	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52819C>T	2.37:g.179460339G>A	ENSP00000465570:p.Leu17607Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L16680F	ENST00000591111.1	37	c.50038		2	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186564	0.57909	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94427	0.8207	H	0.95712	3.71	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95283	0.8388	9	0.87932	D	0	.	13.4717	0.61285	0.0712:0.0:0.9288:0.0	.	10183;10308;10375;17607	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16680;10183;10375;10308;10181	ENSP00000343764:L16680F;ENSP00000434586:L10183F;ENSP00000340554:L10375F;ENSP00000352154:L10308F	ENSP00000340554:L10375F	L	-	1	0	TTN	179168585	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.761000	0.74945	2.808000	0.96608	0.650000	0.86243	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179460339	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179460339	G	A	179460339	3	1	50	1	0	0	0	0	1	0	0	0	16766	942	33	1	50509	1	TTN	2	179460339	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	8404	179460339	63739034	29	6679										
ITGA4	3676	genome.wustl.edu	37	chr2	182374496	182374496	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tcccaccacttcagccaattCttcagcagaagaaagaaaaa	5	12	3	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:182374496C>G	ENST00000397033.2	+	16	2237	c.1807C>G	c.(1807-1809)Ctt>Gtt	p.L603V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	603					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAGCCAATTCTTCAGCAGAA	0.353																																																	0													90	81	84					2																	182374496		1838	4088	5926	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1807C>G	2.37:g.182374496C>G	ENSP00000380227:p.Leu603Val		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L603V	ENST00000397033.2	37	c.1807	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442763	0.83993	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.69926	-0.44;-0.44	6.02	6.02	0.97574	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82772	-0.0292	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	425;603	Q59H74;P13612	.;ITA4_HUMAN	V	603	ENSP00000380227:L603V;ENSP00000233573:L603V	ENSP00000233573:L603V	L	+	1	0	ITGA4	182082741	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.642000	0.67888	2.857000	0.98124	0.650000	0.86243	CTT	ITGA4	-	pfam_Integrin_alpha-2		0.353	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	C			182374496	1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	G	G	182374496	C	G	182374496	3	3	50	1	0	0	0	0	1	0	0	0	7898	913	32	1	1869	1	ITGA4	2	182374496	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2914157	182374496	60824877	30	6680										
COL5A2	1290	genome.wustl.edu	37	chr2	189904002	189904002	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctgctgtctactcaccactCtgctttgcggaatggcaaag	10	12	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:189904002C>T	ENST00000374866.3	-	51	4195	c.3921G>A	c.(3919-3921)caG>caA	p.Q1307Q		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1307	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTCACCACTCTGCTTTGCGG	0.468																																																	0													111	112	111					2																	189904002		2203	4300	6503	SO:0001819	synonymous_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3921G>A	2.37:g.189904002C>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q1307	ENST00000374866.3	37	c.3921	CCDS33350.1	2																																																																																			COL5A2	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C		0.468	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	C	NM_000393		189904002	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	silent	SNP	1.000	T	T	189904002	C	T	189904002	2	4	50	1	0	0	0	0	0	0	0	1	3702	912	32	1		1	COL5A2	2	189904002	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	7529506	189904002	53295371	31	6681										
INPP5D	3635	genome.wustl.edu	37	chr2	234113029	234113029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgaggggcccggcaagcaggTgcccgcgccccggctgcgct	17	17	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:234113029T>C	ENST00000359570.5	+	28	3197	c.3197T>C	c.(3196-3198)gTg>gCg	p.V1066A	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Missense_Mutation_p.V830A|INPP5D_ENST00000450745.1_Missense_Mutation_p.V830A			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1078	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCAAGCAGGTGCCCGCGCCC	0.716																																					NSCLC(82;1215 1426 16163 20348 41018)												0													14	19	17					2																	234113029		1916	4111	6027	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3197T>C	2.37:g.234113029T>C	ENSP00000352575:p.Val1066Ala		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.V1066A	ENST00000359570.5	37	c.3197		2	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.380405	0.01204	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96587	-3.98;-4.06;-4.06;-4.06;-4.06;-4.06	4.6	-9.2	0.00682	.	1.637160	0.03167	N	0.170139	D	0.86752	0.6008	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.81457	-0.0924	9	0.08381	T	0.77	.	3.516	0.07725	0.0942:0.2217:0.1861:0.498	.	1077;1078	Q92835-2;Q92835	.;SHIP1_HUMAN	A	1066;830;830;699;699;699	ENSP00000352575:V1066A;ENSP00000407916:V830A;ENSP00000404610:V830A;ENSP00000400151:V699A;ENSP00000397421:V699A;ENSP00000405338:V699A	ENSP00000352575:V1066A	V	+	2	0	INPP5D	233777768	0.023000	0.18921	0.000000	0.03702	0.018000	0.09664	-0.142000	0.10311	-3.067000	0.00255	-1.215000	0.01618	GTG	INPP5D	-	NULL		0.716	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		T	NM_001017915		234113029	1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	0.000	C	C	234113029	T	C	234113029	3	2	50	1	0	0	0	0	1	0	0	0	7776	1696	59	5	2843	5	INPP5D	2	234113029	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	44209027	234113029	9086344	32	6682										
HRH1	3269	genome.wustl.edu	37	chr3	11302022	11302022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgctggatcccttatttcatCttcttcatggtcattgcctt	6	11	5	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:11302022C>G	ENST00000397056.1	+	3	1490	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	HRH1_ENST00000438284.2_Missense_Mutation_p.I433M|HRH1_ENST00000431010.2_Missense_Mutation_p.I433M	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	433					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTATTTCATCTTCTTCATGG	0.478																																																	0													242	248	246					3																	11302022		2203	4300	6503	SO:0001583	missense	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1299C>G	3.37:g.11302022C>G	ENSP00000380247:p.Ile433Met		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.I433M	ENST00000397056.1	37	c.1299	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162468	0.57368	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.76316	-1.01;-1.01;-1.01	6.08	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.115474	0.64402	D	0.000020	D	0.86863	0.6035	M	0.86028	2.79	0.35960	D	0.834554	D	0.62365	0.991	D	0.66847	0.947	D	0.90569	0.4521	10	0.72032	D	0.01	-21.6543	9.6433	0.39853	0.0:0.5047:0.4177:0.0776	.	433	P35367	HRH1_HUMAN	M	433	ENSP00000406705:I433M;ENSP00000397028:I433M;ENSP00000380247:I433M	ENSP00000380247:I433M	I	+	3	3	HRH1	11277022	0.768000	0.28519	1.000000	0.80357	0.997000	0.91878	-0.010000	0.12743	1.546000	0.49388	0.655000	0.94253	ATC	HRH1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	C			11302022	1	no_errors	ENST00000397056	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11302022	C	G	11302022	3	3	50	1	0	0	0	0	1	0	0	0	7375	903	32	1	1301	1	HRH1	3	11302022	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		11302022	186720408	33	6683										
TTC21A	199223	genome.wustl.edu	37	chr3	39166554	39166554	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgttttgtcccatttacagGgatcatcttgtgtcatatct	7	8	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:39166554G>T	ENST00000431162.2	+	10	1252	c.1118G>T	c.(1117-1119)gGg>gTg	p.G373V	TTC21A_ENST00000301819.6_Splice_Site_p.G373V|TTC21A_ENST00000440121.1_Splice_Site_p.G324V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	373										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCATTTACAGGGATCATCTTG	0.502											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													107	103	105					3																	39166554		2051	4212	6263	SO:0001630	splice_region_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1118-1G>T	3.37:g.39166554G>T		883	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G373V	ENST00000431162.2	37	c.1118	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511923	0.85389	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54675	1.17;0.56;0.56	5.79	5.79	0.91817	.	0.166783	0.42682	D	0.000675	T	0.75354	0.3838	M	0.83223	2.63	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71870	0.975;0.975;0.945	T	0.76326	-0.3000	9	.	.	.	.	18.7986	0.92007	0.0:0.0:1.0:0.0	.	324;373;373	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	V	373;365;373;324	ENSP00000301819:G373V;ENSP00000398211:G373V;ENSP00000410882:G324V	.	G	+	2	0	TTC21A	39141558	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.564000	0.90726	2.744000	0.94065	0.650000	0.86243	GGG	TTC21A	-	NULL		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755	Missense_Mutation	39166554	1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39166554	G	T	39166554	5	4	50	1	0	0	0	0	0	0	1	0	16718	1246	43	4	1156	4	TTC21A	3	39166554	Splice_Site	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	27864532	39166554	158855876	34	6684										
GAP43	2596	genome.wustl.edu	37	chr3	115394886	115394886	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaaaatgatgacgaccaaaaGattgaacaagatggtatcaa	8	5	1	5			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:115394886G>C	ENST00000305124.6	+	2	423	c.57G>C	c.(55-57)aaG>aaC	p.K19N	GAP43_ENST00000393780.3_Missense_Mutation_p.K55N	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	19					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACGACCAAAAGATTGAACAAG	0.393																																																	0													79	83	81					3																	115394886		2203	4300	6503	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.57G>C	3.37:g.115394886G>C	ENSP00000305010:p.Lys19Asn		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.K19N	ENST00000305124.6	37	c.57	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887276	0.72410	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.37915	1.21;1.17	4.75	4.75	0.60458	Neuromodulin gap junction N-terminal (1);	0.048656	0.85682	D	0.000000	T	0.45975	0.1369	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.43081	-0.9413	10	0.87932	D	0	-12.2986	11.7509	0.51847	0.0807:0.0:0.9193:0.0	.	55;19	A8K0Y4;P17677	.;NEUM_HUMAN	N	19;55	ENSP00000305010:K19N;ENSP00000377372:K55N	ENSP00000305010:K19N	K	+	3	2	GAP43	116877576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.565000	0.60836	2.618000	0.88619	0.563000	0.77884	AAG	GAP43	-	pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin		0.393	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	G	NM_002045		115394886	1	no_errors	ENST00000305124	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115394886	G	C	115394886	3	2	50	1	0	0	0	0	1	0	0	0	6254	933	33	1	205	1	GAP43	3	115394886	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	76228332	115394886	82627544	35	6685										
CCDC14	64770	genome.wustl.edu	37	chr3	123667908	123667908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgcaatgaccagttttgctCtaggtctgatgtgtctcttt	9	8	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:123667908C>T	ENST00000488653.2	-	6	658	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CCDC14_ENST00000433542.2_Missense_Mutation_p.E149K|CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000310351.4_Missense_Mutation_p.E30K|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	190					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CAGTTTTGCTCTAGGTCTGAT	0.383																																																	0													125	111	116					3																	123667908		2203	4300	6503	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.568G>A	3.37:g.123667908C>T	ENSP00000420180:p.Glu190Lys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.E190K	ENST00000488653.2	37	c.568		3	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.614635	0.00835	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000433542;ENST00000409697	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.32	-0.033	0.13902	.	0.906126	0.09273	N	0.824865	T	0.26846	0.0657	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24941	-1.0146	10	0.22706	T	0.39	.	9.6883	0.40111	0.0:0.4389:0.4683:0.0928	.	190;149	Q49A88;Q49A88-6	CCD14_HUMAN;.	K	190;30;149;171	ENSP00000420180:E190K;ENSP00000312031:E30K;ENSP00000395706:E149K;ENSP00000386866:E171K	ENSP00000312031:E30K	E	-	1	0	CCDC14	125150598	0.031000	0.19500	0.000000	0.03702	0.043000	0.13939	0.294000	0.19047	0.075000	0.16796	-0.176000	0.13171	GAG	CCDC14	-	NULL		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		C	NM_022757		123667908	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.000	T	T	123667908	C	T	123667908	3	4	50	1	0	0	0	0	1	0	0	0	2778	922	32	1	2325	1	CCDC14	3	123667908	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	8273022	123667908	74354522	36	6686										
ZXDC	79364	genome.wustl.edu	37	chr3	126193878	126193878	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgagcttggcgtgcgtgggGaagcgctcggcgcacacctc	16	13	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:126193878G>A	ENST00000389709.3	-	1	884	c.831C>T	c.(829-831)ttC>ttT	p.F277F	ZXDC_ENST00000336332.5_Silent_p.F277F	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	277					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CGTGCGTGGGGAAGCGCTCGG	0.637																																																	0													21	24	23					3																	126193878		2195	4300	6495	SO:0001819	synonymous_variant	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.831C>T	3.37:g.126193878G>A			C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F277	ENST00000389709.3	37	c.831	CCDS43145.1	3																																																																																			ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	G	NM_025112		126193878	-1	no_errors	ENST00000389709	ensembl	human	known	70_37	silent	SNP	1.000	A	A	126193878	G	A	126193878	2	1	50	1	0	0	0	0	0	0	0	1	18282	1165	41	1		1	ZXDC	3	126193878	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2525970	126193878	71828552	37	6687										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916890	178916890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	caagacgactttgtgaccttCggctttttcaacccttttta	6	11	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:178916890C>T	ENST00000263967.3	+	2	434	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	93	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R93W(9)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTGTGACCTTCGGCTTTTTCA	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	9	Substitution - Missense(9)	endometrium(6)|large_intestine(3)											104	99	101					3																	178916890		1819	4077	5896	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.277C>T	3.37:g.178916890C>T	ENSP00000263967:p.Arg93Trp		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R93W	ENST00000263967.3	37	c.277	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059537	0.76074	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76968	-1.06;-1.06	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.73962	2.25	0.80722	D	1	P	0.50710	0.938	B	0.43251	0.413	T	0.81484	-0.0912	9	.	.	.	-9.1625	19.4272	0.94746	0.0:1.0:0.0:0.0	.	93	P42336	PK3CA_HUMAN	W	93	ENSP00000263967:R93W;ENSP00000417479:R93W	.	R	+	1	2	PIK3CA	180399584	0.650000	0.27331	1.000000	0.80357	0.998000	0.95712	0.910000	0.28571	2.584000	0.87258	0.555000	0.69702	CGG	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	C			178916890	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178916890	C	T	178916890	3	4	50	1	0	0	0	0	1	0	0	0	11937	875	31	1	279	1	PIK3CA	3	178916890	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	52723012	178916890	19105540	38	6688										
HTR3D	200909	genome.wustl.edu	37	chr3	183755875	183755875	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttctggtgcccagtggcattCtgattgccatcgatgccctc	10	13	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:183755875C>G	ENST00000382489.3	+	6	727	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	HTR3D_ENST00000334128.2_Missense_Mutation_p.L70V|HTR3D_ENST00000428798.2_Missense_Mutation_p.L195V|HTR3D_ENST00000453435.1_Missense_Mutation_p.L24V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	243					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CAGTGGCATTCTGATTGCCAT	0.572																																																	0													89	73	79					3																	183755875		2203	4300	6503	SO:0001583	missense	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.727C>G	3.37:g.183755875C>G	ENSP00000371929:p.Leu243Val		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L243V	ENST00000382489.3	37	c.727	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391709	0.25118	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	3.28	2.4	0.29515	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000015	D	0.92378	0.7581	M	0.93678	3.445	0.23555	N	0.997424	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83654	0.0157	10	0.87932	D	0	-12.0689	5.4638	0.16632	0.0:0.7399:0.0:0.2601	.	243;70;24;70	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	70;195;243;24	ENSP00000334315:L70V;ENSP00000405409:L195V;ENSP00000371929:L243V;ENSP00000389268:L24V	ENSP00000334315:L70V	L	+	1	2	HTR3D	185238569	1.000000	0.71417	0.213000	0.23690	0.021000	0.10359	3.980000	0.56895	0.726000	0.32339	0.555000	0.69702	CTG	HTR3D	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.572	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183755875	1	no_errors	ENST00000382489	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183755875	C	G	183755875	3	3	50	1	0	0	0	0	1	0	0	0	7467	912	32	1	885	1	HTR3D	3	183755875	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	4838985	183755875	14266555	39	6689										
EPHB3	2049	genome.wustl.edu	37	chr3	184294866	184294866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccacatcagccatctgctgGcccacacgcgctacaccttt	6	18	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:184294866G>A	ENST00000330394.2	+	5	1701	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	417	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCATCTGCTGGCCCACACGCG	0.632																																																	0													60	59	59					3																	184294866		2203	4300	6503	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1249G>A	3.37:g.184294866G>A	ENSP00000332118:p.Ala417Thr		Q7Z740	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A417T	ENST00000330394.2	37	c.1249	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.498674	0.96355	.	.	ENSG00000182580	ENST00000330394	T	0.58506	0.33	5.29	5.29	0.74685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.86953	2.85	0.80722	D	1	D	0.62365	0.991	D	0.65443	0.935	T	0.82633	-0.0361	10	0.72032	D	0.01	.	18.2665	0.90054	0.0:0.0:1.0:0.0	.	417	P54753	EPHB3_HUMAN	T	417	ENSP00000332118:A417T	ENSP00000332118:A417T	A	+	1	0	EPHB3	185777560	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.814000	0.99346	2.636000	0.89361	0.448000	0.29417	GCC	EPHB3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184294866	1	no_errors	ENST00000330394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184294866	G	A	184294866	3	1	50	1	0	0	0	0	1	0	0	0	5188	1203	42	4	1267	4	EPHB3	3	184294866	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	538991	184294866	13727564	40	6690										
MUC4	4585	genome.wustl.edu	37	chr3	195490965	195490965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cccacgtggggccgcctctgCtggtacagggcacagaggta	15	13	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:195490965C>T	ENST00000346145.4	-	10	1326	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	MUC4_ENST00000463781.3_Silent_p.Q4665Q|MUC4_ENST00000349607.4_Silent_p.Q378Q|MUC4_ENST00000475231.1_Silent_p.Q4613Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1422					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCGCCTCTGCTGGTACAGGG	0.667																																																	0													19	16	17					3																	195490965		2200	4299	6499	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1287G>A	3.37:g.195490965C>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.Q4665	ENST00000346145.4	37	c.13995	CCDS3310.1	3																																																																																			MUC4	-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.667	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	C	NM_018406		195490965	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.964	T	T	195490965	C	T	195490965	2	4	50	1	0	0	0	0	0	0	0	1	10001	796	28	4		4	MUC4	3	195490965	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	11196099	195490965	2531465	41	6691										
TBC1D19	55296	genome.wustl.edu	37	chr4	26719616	26719616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctttgcattcaacagtgcctCgccaccaaaatcatacataa	4	13	2	0	rs377374054		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:26719616C>T	ENST00000264866.4	+	14	1294	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	TBC1D19_ENST00000511789.1_Missense_Mutation_p.S274L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	339	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACAGTGCCTCGCCACCAAAA	0.303																																																	0								C	LEU/SER	0,4406		0,0,2203	124	117	119		1016	4.9	1	4		119	1,8597	1.2+/-3.3	0,1,4298	no	missense	TBC1D19	NM_018317.2	145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	339/527	26719616	1,13003	2203	4299	6502	SO:0001583	missense	55296			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1016C>T	4.37:g.26719616C>T	ENSP00000264866:p.Ser339Leu		B9A6M0|Q9NUX1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S339L	ENST00000264866.4	37	c.1016	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074975	0.55646	0.0	1.16E-4	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.30182	1.54;1.54	4.95	4.95	0.65309	Rab-GAP/TBC domain (2);	0.135690	0.50627	D	0.000104	T	0.24890	0.0604	L	0.40543	1.245	0.48975	D	0.999734	B;B;B	0.32731	0.382;0.196;0.196	B;B;B	0.22601	0.04;0.026;0.016	T	0.05354	-1.0890	10	0.46703	T	0.11	-8.4092	15.0913	0.72195	0.0:1.0:0.0:0.0	.	274;339;339	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	L	339;274	ENSP00000264866:S339L;ENSP00000425569:S274L	ENSP00000264866:S339L	S	+	2	0	TBC1D19	26328714	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.340000	0.65958	2.263000	0.75096	0.557000	0.71058	TCG	TBC1D19	-	smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	C	NM_018317		26719616	1	no_errors	ENST00000264866	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26719616	C	T	26719616	3	4	50	1	0	0	0	0	1	0	0	0	15637	893	31	1	1070	1	TBC1D19	4	26719616	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		26719616	164434660	42	6692										
USO1	8615	genome.wustl.edu	37	chr4	76721919	76721919	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagaatacatgatatttgatCatgagtttacgaagctggta	9	5	1	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:76721919C>T	ENST00000538159.1	+	17	1858	c.1858C>T	c.(1858-1860)Cat>Tat	p.H620Y	USO1_ENST00000514213.2_Missense_Mutation_p.H596Y			O60763	USO1_HUMAN	USO1 vesicle transport factor	611	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATATTTGATCATGAGTTTAC	0.323																																																	0													69	65	66					4																	76721919		1817	4079	5896	SO:0001583	missense	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1858C>T	4.37:g.76721919C>T	ENSP00000440586:p.His620Tyr		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.H620Y	ENST00000538159.1	37	c.1858		4	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735046	0.48939	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.	.	.	5.54	5.54	0.83059	Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	N	0.17631	0.505	0.80722	D	1	B;P	0.34684	0.178;0.463	B;B	0.38655	0.076;0.278	T	0.37979	-0.9682	9	0.02654	T	1	.	19.4719	0.94966	0.0:1.0:0.0:0.0	.	620;611	F5GYR8;O60763	.;USO1_HUMAN	Y	446;620;596;539	.	ENSP00000264904:H539Y	H	+	1	0	USO1	76940943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.614000	0.88457	0.455000	0.32223	CAT	USO1	-	pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold		0.323	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		C	NM_003715		76721919	1	no_errors	ENST00000538159	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76721919	C	T	76721919	3	4	50	1	0	0	0	0	1	0	0	0	17070	826	29	1	1734	1	USO1	4	76721919	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	50002303	76721919	114432357	43	6693										
DAPP1	27071	genome.wustl.edu	37	chr4	100761527	100761527	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tttaatgaattctcatctttGaaggattttgtcaagcattt	6	5	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:100761527G>C	ENST00000512369.1	+	3	374	c.306G>C	c.(304-306)ttG>ttC	p.L102F	DAPP1_ENST00000296414.7_Missense_Mutation_p.L102F	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCTCATCTTTGAAGGATTTTG	0.348																																																	0													61	56	58					4																	100761527		1818	4082	5900	SO:0001583	missense	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.306G>C	4.37:g.100761527G>C	ENSP00000423602:p.Leu102Phe		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.L102F	ENST00000512369.1	37	c.306	CCDS47112.1	4	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146704	0.57151	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.92446	-3.04;-3.04	5.55	3.7	0.42460	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.93654	0.7973	H	0.95780	3.72	0.49483	D	0.999793	P;P;P	0.44195	0.828;0.738;0.779	B;B;B	0.43225	0.411;0.412;0.344	D	0.92859	0.6304	10	0.62326	D	0.03	1.724	6.6354	0.22879	0.3232:0.0:0.6768:0.0	.	102;102;102	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	F	102	ENSP00000296414:L102F;ENSP00000423602:L102F	ENSP00000296414:L102F	L	+	3	2	DAPP1	100980550	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.177000	0.31969	1.221000	0.43506	0.655000	0.94253	TTG	DAPP1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.348	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	G			100761527	1	no_errors	ENST00000512369	ensembl	human	known	70_37	missense	SNP	0.999	C	C	100761527	G	C	100761527	3	2	50	1	0	0	0	0	1	0	0	0	4244	1281	45	1	316	1	DAPP1	4	100761527	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	24039608	100761527	90392749	44	6694										
TBCK	93627	genome.wustl.edu	37	chr4	107173034	107173034	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tatacataccacacaaagctCaaataaaatgattccaagag	4	9	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:107173034C>G	ENST00000273980.5	-	7	1033	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TBCK_ENST00000361687.4_Missense_Mutation_p.E133Q|TBCK_ENST00000394706.3_Intron|TBCK_ENST00000432496.2_Missense_Mutation_p.E196Q|TBCK_ENST00000394708.2_Missense_Mutation_p.E196Q					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ACACAAAGCTCAAATAAAATG	0.318																																																	0													71	72	72					4																	107173034		2203	4300	6503	SO:0001583	missense	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.586G>C	4.37:g.107173034C>G	ENSP00000273980:p.Glu196Gln			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom	p.E196Q	ENST00000273980.5	37	c.586	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027080	0.93518	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394708	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.81914	0.971;0.995	T	0.22452	-1.0216	10	0.40728	T	0.16	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	196;133	Q8TEA7;Q8TEA7-3	TBCK_HUMAN;.	Q	196;196;133;196	ENSP00000273980:E196Q;ENSP00000405847:E196Q;ENSP00000355338:E133Q;ENSP00000378198:E196Q	ENSP00000273980:E196Q	E	-	1	0	TBCK	107392483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.114000	0.77103	2.779000	0.95612	0.655000	0.94253	GAG	TBCK	-	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		0.318	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	C	NM_033115		107173034	-1	no_errors	ENST00000273980	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107173034	C	G	107173034	3	3	50	1	0	0	0	0	1	0	0	0	15666	835	29	1	2179	1	TBCK	4	107173034	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	6411507	107173034	83981242	45	6695										
SYNPO2	171024	genome.wustl.edu	37	chr4	119952442	119952442	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cacaagcagcagtagccagtCagaattacacacccaaacca	6	14	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:119952442C>T	ENST00000429713.2	+	4	2694	c.2512C>T	c.(2512-2514)Cag>Tag	p.Q838*	SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q838*|SYNPO2_ENST00000307142.4_Nonsense_Mutation_p.Q838*|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	838						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTAGCCAGTCAGAATTACAC	0.527																																																	0													78	81	80					4																	119952442		2203	4300	6503	SO:0001587	stop_gained	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2512C>T	4.37:g.119952442C>T	ENSP00000395143:p.Gln838*		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q838*	ENST00000429713.2	37	c.2512	CCDS47129.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.717597|5.717597	0.96839|0.96839	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	.|T	.|0.11277	.|2.79	5.76|5.76	0.747|0.747	0.18371|0.18371	.|.	1.145840|.	0.06391|.	N|.	0.717002|.	.|T	.|0.08223	.|0.0205	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40079	.|-0.9582	.|5	.|.	.|.	.|.	0.5164|0.5164	5.6706|5.6706	0.17721|0.17721	0.2227:0.496:0.2168:0.0645|0.2227:0.496:0.2168:0.0645	.|.	.|.	.|.	.|.	X|L	838|789	.|ENSP00000425496:S789L	.|.	Q|S	+|+	1|2	0|0	SYNPO2|SYNPO2	120171890|120171890	0.015000|0.015000	0.18098|0.18098	0.016000|0.016000	0.15963|0.15963	0.973000|0.973000	0.67179|0.67179	1.907000|1.907000	0.39897|0.39897	0.349000|0.349000	0.23975|0.23975	-0.169000|-0.169000	0.13324|0.13324	CAG|TCA	SYNPO2	-	NULL		0.527	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	C			119952442	1	no_errors	ENST00000307142	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	119952442	C	T	119952442	4	4	50	1	0	0	0	0	0	1	0	0	15487	827	29	1	2526	1	SYNPO2	4	119952442	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	12779408	119952442	71201834	46	6696										
POU4F2	5458	genome.wustl.edu	37	chr4	147560492	147560492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cggcggcggcggcggcggcgGaggccgaagcagcagctcca	20	14	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:147560492G>A	ENST00000281321.3	+	1	448	c.200G>A	c.(199-201)gGa>gAa	p.G67E	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	67	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ggcggcggcggaggccgaagc	0.751																																																	0													5	7	6					4																	147560492		1818	3658	5476	SO:0001583	missense	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.200G>A	4.37:g.147560492G>A	ENSP00000281321:p.Gly67Glu		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.G67E	ENST00000281321.3	37	c.200	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853968	0.51270	.	.	ENSG00000151615	ENST00000281321	D	0.91464	-2.85	5.21	4.37	0.52481	.	0.666453	0.12352	U	0.476429	T	0.81749	0.4888	N	0.08118	0	0.19945	N	0.999942	B	0.32010	0.351	B	0.35278	0.199	T	0.70706	-0.4798	10	0.29301	T	0.29	.	11.4971	0.50415	0.0876:0.0:0.9124:0.0	.	67	Q12837	PO4F2_HUMAN	E	67	ENSP00000281321:G67E	ENSP00000281321:G67E	G	+	2	0	POU4F2	147779942	0.453000	0.25721	0.970000	0.41538	0.849000	0.48306	2.022000	0.41030	1.191000	0.43056	0.561000	0.74099	GGA	POU4F2	-	NULL		0.751	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	G	NM_004575		147560492	1	no_errors	ENST00000281321	ensembl	human	known	70_37	missense	SNP	0.974	A	A	147560492	G	A	147560492	3	1	50	1	0	0	0	0	1	0	0	0	12303	1174	41	1	202	1	POU4F2	4	147560492	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	27608050	147560492	43593784	47	6697										
DCHS2	54798	genome.wustl.edu	37	chr4	155264710	155264710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atcttgcacttttaggtaatGgagatggcgtcttcccttaa	9	8	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:155264710G>A	ENST00000357232.4	-	7	888	c.889C>T	c.(889-891)Cat>Tat	p.H297Y	DCHS2_ENST00000507542.1_Intron|DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	297	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tttaggtaatggagatggcgt	0.413																																																	0													69	70	70					4																	155264710		1327	2309	3636	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.889C>T	4.37:g.155264710G>A	ENSP00000349768:p.His297Tyr		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H297Y	ENST00000357232.4	37	c.889	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.903872	0.00057	.	.	ENSG00000197410	ENST00000357232	T	0.56444	0.46	0.593	-0.397	0.12423	Cadherin (1);	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26155	-1.0111	8	0.02654	T	1	.	.	.	.	.	297	Q6V1P9	PCD23_HUMAN	Y	297	ENSP00000349768:H297Y	ENSP00000349768:H297Y	H	-	1	0	DCHS2	155484160	0.008000	0.16893	0.009000	0.14445	0.008000	0.06430	0.529000	0.23019	-0.242000	0.09667	-0.237000	0.12165	CAT	DCHS2	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,pfscan_Cadherin		0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155264710	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.012	A	A	155264710	G	A	155264710	3	1	50	1	0	0	0	0	1	0	0	0	4293	1348	47	4	8033	4	DCHS2	4	155264710	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7704218	155264710	35889566	48	6698										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33588817	33588817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgtgggcgggagagcctgctCgtcagagaccatggtctgga	17	9	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:33588817C>T	ENST00000504830.1	-	18	3087	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E833K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	918	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGAGCCTGCTCGTCAGAGACC	0.642										HNSCC(64;0.19)																																							0													129	124	126					5																	33588817		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2752G>A	5.37:g.33588817C>T	ENSP00000422554:p.Glu918Lys		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E918K	ENST00000504830.1	37	c.2752	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.770259	0.96914	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59906	0.25;0.23	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.846	T	0.72814	-0.4179	10	0.20519	T	0.43	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	833;918	P58397-3;P58397	.;ATS12_HUMAN	K	918;833	ENSP00000422554:E918K;ENSP00000344847:E833K	ENSP00000344847:E833K	E	-	1	0	ADAMTS12	33624574	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	7.702000	0.84576	2.838000	0.97847	0.591000	0.81541	GAG	ADAMTS12	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.642	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33588817	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33588817	C	T	33588817	3	4	50	1	0	0	0	0	1	0	0	0	257	893	31	1	2060	1	ADAMTS12	5	33588817	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		33588817	147326443	49	6699										
C5orf42	65250	genome.wustl.edu	37	chr5	37226650	37226650	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaaacaagctaaaagtttctCtgagaataactgaccctttt	5	8	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:37226650C>G	ENST00000508244.1	-	11	2140	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.E683Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	683						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAAAGTTTCTCTGAGAATAAC	0.348																																																	0													43	36	38					5																	37226650		692	1591	2283	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2047G>C	5.37:g.37226650C>G	ENSP00000421690:p.Glu683Gln		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.E683Q	ENST00000508244.1	37	c.2047	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694709	0.48202	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	D;D	0.98296	-4.85;-4.85	5.18	4.3	0.51218	.	0.711427	0.12954	U	0.425565	D	0.96163	0.8749	M	0.67953	2.075	0.80722	D	1	P	0.34462	0.454	B	0.30572	0.117	D	0.93677	0.6995	10	0.33141	T	0.24	-7.1628	6.6025	0.22708	0.0:0.6842:0.1584:0.1574	.	683	E9PH94	.	Q	683	ENSP00000421690:E683Q;ENSP00000389014:E683Q	ENSP00000389014:E683Q	E	-	1	0	C5orf42	37262407	0.179000	0.23135	0.972000	0.41901	0.983000	0.72400	0.164000	0.16542	1.168000	0.42723	0.586000	0.80456	GAG	C5orf42	-	NULL		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37226650	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.963	G	G	37226650	C	G	37226650	3	3	50	1	0	0	0	0	1	0	0	0	2306	922	32	1	7710	1	C5orf42	5	37226650	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3637833	37226650	143688610	50	6700										
GPR98	84059	genome.wustl.edu	37	chr5	89924399	89924399	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atatgaagaaatcacagtggTtagaaatggaggaacccatg	11	5	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:89924399T>G	ENST00000405460.2	+	8	1355	c.1259T>G	c.(1258-1260)gTt>gGt	p.V420G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	420	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCACAGTGGTTAGAAATGGA	0.398																																																	0													78	75	76					5																	89924399		1877	4118	5995	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1259T>G	5.37:g.89924399T>G	ENSP00000384582:p.Val420Gly		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V420G	ENST00000405460.2	37	c.1259	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737563	0.89482	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37235	1.21	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70026	-0.4985	10	0.87932	D	0	.	16.3035	0.82836	0.0:0.0:0.0:1.0	.	420	Q8WXG9	GPR98_HUMAN	G	420	ENSP00000384582:V420G	ENSP00000296619:V420G	V	+	2	0	GPR98	89960155	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.981000	0.70524	2.299000	0.77371	0.528000	0.53228	GTT	GPR98	-	NULL		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		89924399	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89924399	T	G	89924399	3	3	50	1	0	0	0	0	1	0	0	0	6741	1725	60	5	1289	5	GPR98	5	89924399	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	52697749	89924399	90990861	51	6701										
FAM172A	83989	genome.wustl.edu	37	chr5	93217310	93217310	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgctggttcatctgaactatCagatgatgactgtacgtgta	10	7	3	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:93217310C>G	ENST00000395965.3	-	7	794	c.652G>C	c.(652-654)Gat>Cat	p.D218H	FAM172A_ENST00000505869.1_Missense_Mutation_p.D108H|FAM172A_ENST00000509163.1_Missense_Mutation_p.D172H|FAM172A_ENST00000509739.1_Missense_Mutation_p.D71H	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	218						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTGAACTATCAGATGATGAC	0.353																																																	0													189	179	182					5																	93217310		2203	4299	6502	SO:0001583	missense	83989				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.652G>C	5.37:g.93217310C>G	ENSP00000379294:p.Asp218His		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.D218H	ENST00000395965.3	37	c.652	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355677	0.82243	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.42900	0.96;2.31;2.31;0.96	4.63	4.63	0.57726	Arb2 domain (1);	0.051369	0.85682	D	0.000000	T	0.49508	0.1561	N	0.19112	0.55	0.80722	D	1	D;P;D;D	0.89917	0.999;0.693;0.989;1.0	D;P;P;D	0.68483	0.958;0.606;0.866;0.948	T	0.53251	-0.8465	10	0.45353	T	0.12	-18.7085	17.8276	0.88671	0.0:1.0:0.0:0.0	.	71;108;218;218	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	H	218;108;71;172	ENSP00000379294:D218H;ENSP00000426284:D108H;ENSP00000421834:D71H;ENSP00000423841:D172H	ENSP00000379294:D218H	D	-	1	0	FAM172A	93243066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.691000	0.74573	2.273000	0.75805	0.650000	0.86243	GAT	FAM172A	-	pfam_Arb2_domain		0.353	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	C	NM_032042		93217310	-1	no_errors	ENST00000395965	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93217310	C	G	93217310	3	3	50	1	0	0	0	0	1	0	0	0	5507	826	29	1	618	1	FAM172A	5	93217310	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3292911	93217310	87697950	52	6702										
HNRNPA0	10949	genome.wustl.edu	37	chr5	137089493	137089493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgtgggcaccgggccgcgccGaatcctcccgggacaccgcc	14	19	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:137089493G>A	ENST00000314940.4	-	1	546	c.263C>T	c.(262-264)tCg>tTg	p.S88L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	88					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCGCGCCGAATCCTCCCG	0.647																																																	0													53	57	56					5																	137089493		2203	4300	6503	SO:0001583	missense	10949			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.263C>T	5.37:g.137089493G>A	ENSP00000316042:p.Ser88Leu		Q6IB18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S88L	ENST00000314940.4	37	c.263	CCDS4193.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.477516	0.96291	.	.	ENSG00000177733	ENST00000314940	D	0.91740	-2.9	4.88	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);	0.072203	0.56097	U	0.000030	D	0.93128	0.7812	M	0.76002	2.32	0.58432	D	0.999999	D	0.69078	0.997	P	0.47134	0.539	D	0.94211	0.7459	10	0.72032	D	0.01	.	18.0189	0.89249	0.0:0.0:1.0:0.0	.	88	Q13151	ROA0_HUMAN	L	88	ENSP00000316042:S88L	ENSP00000316042:S88L	S	-	2	0	HNRNPA0	137117392	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.786000	0.99046	2.255000	0.74692	0.305000	0.20034	TCG	HNRNPA0	-	NULL		0.647	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA0	HGNC	protein_coding	OTTHUMT00000251221.1	G	NM_006805		137089493	-1	no_errors	ENST00000314940	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137089493	G	A	137089493	3	1	50	1	0	0	0	0	1	0	0	0	7276	1059	37	1	658	1	HNRNPA0	5	137089493	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	43872183	137089493	43825767	53	6703										
PCDHGA9	56107	genome.wustl.edu	37	chr5	140783709	140783709	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atcttttacattagaaaattCagaagaagattattacagat	5	4	2	5			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:140783709C>T	ENST00000573521.1	+	1	1190	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAATTCAGAAGAAGAT	0.398																																																	0													30	30	30					5																	140783709		1833	4088	5921	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1190C>T	5.37:g.140783709C>T	ENSP00000460274:p.Ser397Leu		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S397L	ENST00000573521.1	37	c.1190	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140783709	1	no_errors	ENST00000573521	ensembl	human	known	70_37	missense	SNP	0.238	T	T	140783709	C	T	140783709	3	4	50	1	0	0	0	0	1	0	0	0	11585	838	29	1	1192	1	PCDHGA9	5	140783709	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3694216	140783709	40131551	54	6704										
PCDHGA9	56107	genome.wustl.edu	37	chr5	140783879	140783879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ataatccacctgctttctctCaagcctcctactcagtctac	3	16	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:140783879C>G	ENST00000573521.1	+	1	1360	c.1360C>G	c.(1360-1362)Caa>Gaa	p.Q454E	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	454	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTTCTCTCAAGCCTCCTA	0.493																																																	0													83	84	83					5																	140783879		1986	4175	6161	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1360C>G	5.37:g.140783879C>G	ENSP00000460274:p.Gln454Glu		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q454E	ENST00000573521.1	37	c.1360	CCDS58981.1	5																																																																																			PCDHGA9	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.493	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140783879	1	no_errors	ENST00000573521	ensembl	human	known	70_37	missense	SNP	0.015	G	G	140783879	C	G	140783879	3	3	50	1	0	0	0	0	1	0	0	0	11585	827	29	1	1362	1	PCDHGA9	5	140783879	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	170	140783879	40131381	55	6705										
NSD1	64324	genome.wustl.edu	37	chr5	176636850	176636850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aatcactggcttttgattctGaacattctgcagatgagaag	9	7	3	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176636850G>C	ENST00000439151.2	+	5	1495	c.1450G>C	c.(1450-1452)Gaa>Caa	p.E484Q	NSD1_ENST00000347982.4_Missense_Mutation_p.E215Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E215Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E381Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	484					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTTGATTCTGAACATTCTGC	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													97	94	95					5																	176636850		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1450G>C	5.37:g.176636850G>C	ENSP00000395929:p.Glu484Gln		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E484Q	ENST00000439151.2	37	c.1450	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266310	0.59540	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93366	-3.1;-3.11;-3.1;-3.21	5.5	4.58	0.56647	.	0.089217	0.49305	D	0.000157	D	0.90038	0.6889	N	0.24115	0.695	0.25925	N	0.98307	D;D;D	0.57257	0.975;0.974;0.979	P;P;P	0.55545	0.778;0.669;0.604	T	0.82137	-0.0606	9	.	.	.	.	5.6386	0.17550	0.1276:0.193:0.6794:0.0	.	215;381;484	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	215;215;484;215;381	ENSP00000346111:E215Q;ENSP00000395929:E484Q;ENSP00000343209:E215Q;ENSP00000354310:E381Q	.	E	+	1	0	NSD1	176569456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.244000	0.51399	2.587000	0.87381	0.591000	0.81541	GAA	NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176636850	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176636850	G	C	176636850	3	2	50	1	0	0	0	0	1	0	0	0	10693	1291	45	1	1464	1	NSD1	5	176636850	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	35852971	176636850	4278410	56	6706			1	34		6	6	1990	N	T_G	7.137063e-12
NSD1	64324	genome.wustl.edu	37	chr5	176636899	176636899	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgcgctaaatctcgagccaGaaagagctctgataatccaa	8	10	2	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176636899G>C	ENST00000439151.2	+	5	1544	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	NSD1_ENST00000347982.4_Missense_Mutation_p.R231T|NSD1_ENST00000354179.4_Missense_Mutation_p.R231T|NSD1_ENST00000361032.4_Missense_Mutation_p.R397T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	500					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTCGAGCCAGAAAGAGCTCT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													68	72	70					5																	176636899		2203	4299	6502	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1499G>C	5.37:g.176636899G>C	ENSP00000395929:p.Arg500Thr		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R500T	ENST00000439151.2	37	c.1499	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897605	0.52121	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93953	-3.22;-3.23;-3.22;-3.32	5.72	4.85	0.62838	.	0.079927	0.53938	D	0.000052	D	0.90724	0.7089	N	0.24115	0.695	0.26195	N	0.979533	D;D;D	0.60575	0.988;0.974;0.979	P;P;P	0.56216	0.794;0.647;0.628	D	0.83622	0.0140	9	.	.	.	.	7.8818	0.29627	0.219:0.0:0.781:0.0	.	231;397;500	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	231;231;500;231;397	ENSP00000346111:R231T;ENSP00000395929:R500T;ENSP00000343209:R231T;ENSP00000354310:R397T	.	R	+	2	0	NSD1	176569505	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	4.355000	0.59424	1.413000	0.46997	0.591000	0.81541	AGA	NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176636899	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.919	C	C	176636899	G	C	176636899	3	2	50	1	0	0	0	0	1	0	0	0	10693	942	33	1	1513	1	NSD1	5	176636899	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	49	176636899	4278361	57	6707			1	34		6	6	1990	N	T_G	7.137063e-12
NSD1	64324	genome.wustl.edu	37	chr5	176637357	176637357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcagtgacctggatcccataGaacacagctcagagtctgat	10	11	2	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176637357G>A	ENST00000439151.2	+	5	2002	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	NSD1_ENST00000347982.4_Missense_Mutation_p.E384K|NSD1_ENST00000354179.4_Missense_Mutation_p.E384K|NSD1_ENST00000361032.4_Missense_Mutation_p.E550K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	653					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATCCCATAGAACACAGCTC	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													117	114	115					5																	176637357		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1957G>A	5.37:g.176637357G>A	ENSP00000395929:p.Glu653Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E653K	ENST00000439151.2	37	c.1957	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937722	0.52972	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93189	-3.07;-3.06;-3.07;-3.18	5.1	5.1	0.69264	.	0.083657	0.51477	D	0.000098	D	0.86020	0.5833	N	0.14661	0.345	0.36635	D	0.876501	B;B;B	0.30361	0.277;0.13;0.181	B;B;B	0.27380	0.079;0.055;0.014	D	0.84996	0.0897	9	.	.	.	.	15.7209	0.77710	0.0:0.0:1.0:0.0	.	384;550;653	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	384;384;653;384;550	ENSP00000346111:E384K;ENSP00000395929:E653K;ENSP00000343209:E384K;ENSP00000354310:E550K	.	E	+	1	0	NSD1	176569963	1.000000	0.71417	0.925000	0.36789	0.759000	0.43091	5.880000	0.69698	2.805000	0.96524	0.655000	0.94253	GAA	NSD1	-	NULL		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637357	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.979	A	A	176637357	G	A	176637357	3	1	50	1	0	0	0	0	1	0	0	0	10693	943	33	1	1971	1	NSD1	5	176637357	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	458	176637357	4277903	58	6708			1	34		6	6	1990	N	T_G	7.137063e-12
NSD1	64324	genome.wustl.edu	37	chr5	176638806	176638806	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgaaaacggaaaaggcccaGagctggactctgtaatgaac	11	8	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176638806G>A	ENST00000439151.2	+	5	3451	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	NSD1_ENST00000347982.4_Missense_Mutation_p.E867K|NSD1_ENST00000354179.4_Missense_Mutation_p.E867K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1033K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1136					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAAGGCCCAGAGCTGGACTC	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													76	81	79					5																	176638806		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3406G>A	5.37:g.176638806G>A	ENSP00000395929:p.Glu1136Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1136K	ENST00000439151.2	37	c.3406	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281908	0.59758	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93133	-3.06;-3.06;-3.06;-3.17	4.7	3.83	0.44106	.	0.354417	0.24003	N	0.042460	D	0.90521	0.7030	N	0.24115	0.695	0.09310	N	1	P;D;P	0.56035	0.949;0.974;0.956	P;P;P	0.53861	0.6;0.736;0.549	T	0.83121	-0.0118	9	.	.	.	.	10.0588	0.42261	0.0938:0.0:0.9062:0.0	.	867;1033;1136	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	867;1136;867;1033	ENSP00000346111:E867K;ENSP00000395929:E1136K;ENSP00000343209:E867K;ENSP00000354310:E1033K	.	E	+	1	0	NSD1	176571412	0.452000	0.25713	0.062000	0.19696	0.757000	0.42996	2.425000	0.44723	1.347000	0.45714	0.655000	0.94253	GAG	NSD1	-	NULL		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638806	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.203	A	A	176638806	G	A	176638806	3	1	50	1	0	0	0	0	1	0	0	0	10693	943	33	1	3420	1	NSD1	5	176638806	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1449	176638806	4276454	59	6709			1	34		6	6	1990	N	T_G	7.137063e-12
NSD1	64324	genome.wustl.edu	37	chr5	176638817	176638817	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaaggcccagagctggactcTgtaatgaacagtgagaatga	12	7	1	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176638817T>A	ENST00000439151.2	+	5	3462	c.3417T>A	c.(3415-3417)tcT>tcA	p.S1139S	NSD1_ENST00000347982.4_Silent_p.S870S|NSD1_ENST00000354179.4_Silent_p.S870S|NSD1_ENST00000361032.4_Silent_p.S1036S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1139					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGCTGGACTCTGTAATGAACA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													80	83	82					5																	176638817		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3417T>A	5.37:g.176638817T>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1139	ENST00000439151.2	37	c.3417	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	T	NM_172349		176638817	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.995	A	A	176638817	T	A	176638817	2	1	50	1	0	0	0	0	0	0	0	1	10693	1567	55	5		5	NSD1	5	176638817	Silent	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	11	176638817	4276443	60	6710			1	34		6	6	1990	N	T_G	7.137063e-12
NSD1	64324	genome.wustl.edu	37	chr5	176638839	176638839	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	taatgaacagtgagaatgatGaactcaatggtgtaaatcaa	9	4	2	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176638839G>A	ENST00000439151.2	+	5	3484	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	NSD1_ENST00000347982.4_Missense_Mutation_p.E878K|NSD1_ENST00000354179.4_Missense_Mutation_p.E878K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1044K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1147					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAGAATGATGAACTCAATGG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			GRCh37	CM074963	NSD1	M							82	84	83					5																	176638839		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3439G>A	5.37:g.176638839G>A	ENSP00000395929:p.Glu1147Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1147K	ENST00000439151.2	37	c.3439	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640598	0.87859	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94280	-3.29;-3.28;-3.29;-3.39	4.7	4.7	0.59300	.	0.000000	0.53938	D	0.000042	D	0.88883	0.6558	L	0.27053	0.805	0.32496	N	0.539489	P;P;P	0.42827	0.675;0.763;0.791	B;B;B	0.42282	0.367;0.382;0.212	D	0.89715	0.3915	9	.	.	.	.	14.8501	0.70289	0.0:0.0:1.0:0.0	.	878;1044;1147	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	878;1147;878;1044	ENSP00000346111:E878K;ENSP00000395929:E1147K;ENSP00000343209:E878K;ENSP00000354310:E1044K	.	E	+	1	0	NSD1	176571445	1.000000	0.71417	0.958000	0.39756	0.977000	0.68977	4.290000	0.59019	2.607000	0.88179	0.655000	0.94253	GAA	NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638839	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.989	A	A	176638839	G	A	176638839	3	1	50	1	0	0	0	0	1	0	0	0	10693	1291	45	1	3453	1	NSD1	5	176638839	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	22	176638839	4276421	61	6711			1	34		6	6	1990	N	T_G	7.137063e-12
C6orf145	221749	genome.wustl.edu	37	chr6	3738335	3738335	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cttcagcagcttctccacctCattaagcctggtctctatgt	6	14	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:3738335C>T	ENST00000380283.4	-	2	798	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	102	PX.						phosphatidylinositol binding (GO:0035091)										TTCTCCACCTCATTAAGCCTG	0.552																																																	0													282	248	259					6																	3738335		2203	4300	6503	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.304G>A	6.37:g.3738335C>T	ENSP00000369636:p.Glu102Lys		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox	p.E102K	ENST00000380283.4	37	c.304	CCDS4486.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604172|4.604172	0.87157|0.87157	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380283|ENST00000380277	T|.	0.39229|.	1.09|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Phox homologous domain (3);|.	0.046027|.	0.85682|.	D|.	0.000000|.	T|T	0.67268|0.67268	0.2875|0.2875	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.66756|0.66756	-0.5843|-0.5843	10|5	0.44086|.	T|.	0.13|.	-29.8195|-29.8195	17.375|17.375	0.87390|0.87390	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	102|.	Q5TGL8|.	CF145_HUMAN|.	K|I	102|49	ENSP00000369636:E102K|.	ENSP00000369636:E102K|.	E|M	-|-	1|3	0|0	C6orf145|C6orf145	3683334|3683334	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.537000|0.537000	0.34900|0.34900	6.599000|6.599000	0.74127|0.74127	2.406000|2.406000	0.81754|0.81754	0.555000|0.555000	0.69702|0.69702	GAG|ATG	PXDC1	-	pfam_Phox,superfamily_Phox		0.552	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDC1	HGNC	protein_coding	OTTHUMT00000039688.1	C	NM_183373		3738335	-1	no_errors	ENST00000380283	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3738335	C	T	3738335	3	4	50	1	0	0	0	0	1	0	0	0	2339	835	29	1	407	1	C6orf145	6	3738335	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		3738335	167376732	62	6712										
MBOAT1	154141	genome.wustl.edu	37	chr6	20109874	20109874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgccaacatcacaaagggtGctaccgtgtaagagacagcc	10	12	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:20109874G>A	ENST00000324607.7	-	12	1480	c.1316C>T	c.(1315-1317)gCa>gTa	p.A439V	MBOAT1_ENST00000541730.1_Missense_Mutation_p.A290V	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	439					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CACAAAGGGTGCTACCGTGTA	0.463																																																	0													174	150	158					6																	20109874		2203	4300	6503	SO:0001583	missense	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1316C>T	6.37:g.20109874G>A	ENSP00000324944:p.Ala439Val		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.A439V	ENST00000324607.7	37	c.1316	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849163	0.02651	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.15603	2.41;2.91	5.38	4.5	0.54988	.	0.136966	0.64402	D	0.000003	T	0.02727	0.0082	N	0.11818	0.18	0.48571	D	0.999673	B;B	0.18166	0.002;0.026	B;B	0.23574	0.02;0.047	T	0.29792	-1.0000	10	0.02654	T	1	-13.8209	9.7712	0.40591	0.1506:0.0:0.8494:0.0	.	290;439	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	V	290;439	ENSP00000441568:A290V;ENSP00000324944:A439V	ENSP00000324944:A439V	A	-	2	0	MBOAT1	20217853	1.000000	0.71417	0.127000	0.21898	0.053000	0.15095	4.868000	0.63021	2.649000	0.89929	0.655000	0.94253	GCA	MBOAT1	-	NULL		0.463	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	G			20109874	-1	no_errors	ENST00000324607	ensembl	human	known	70_37	missense	SNP	0.287	A	A	20109874	G	A	20109874	3	1	50	1	0	0	0	0	1	0	0	0	9379	1319	46	4	179	4	MBOAT1	6	20109874	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	16371539	20109874	151005193	63	6713										
PRL	5617	genome.wustl.edu	37	chr6	22287684	22287684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	caggagcttgagataattgtCgattttatgtgaatccctgc	10	7	0	2	rs148157654		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:22287684C>T	ENST00000306482.1	-	5	1149	c.631G>A	c.(631-633)Gac>Aac	p.D211N	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	211					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AGATAATTGTCGATTTTATGT	0.463																																																	0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	263	233	243		631,631	4.8	0.9	6	dbSNP_134	243	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PRL	NM_000948.5,NM_001163558.2	23,23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	211/228,211/228	22287684	2,13004	2203	4300	6503	SO:0001583	missense	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.631G>A	6.37:g.22287684C>T	ENSP00000302150:p.Asp211Asn		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.D211N	ENST00000306482.1	37	c.631	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650904	0.87958	0.0	2.33E-4	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.91464	-2.85	5.66	4.8	0.61643	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.040721	0.85682	N	0.000000	D	0.94938	0.8363	M	0.87180	2.865	0.80722	D	1	P;D	0.89917	0.882;1.0	P;D	0.91635	0.856;0.999	D	0.95790	0.8824	10	0.72032	D	0.01	-18.4203	14.7885	0.69821	0.0:0.9309:0.0:0.0691	.	211;212	P01236;Q5I0G2	PRL_HUMAN;.	N	211;180	ENSP00000302150:D211N	ENSP00000302150:D211N	D	-	1	0	PRL	22395663	0.998000	0.40836	0.919000	0.36401	0.991000	0.79684	2.825000	0.48096	1.539000	0.49286	0.655000	0.94253	GAC	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.463	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	C	NM_000948		22287684	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	missense	SNP	0.997	T	T	22287684	C	T	22287684	3	4	50	1	0	0	0	0	1	0	0	0	12555	884	31	1	56	1	PRL	6	22287684	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2177810	22287684	148827383	64	6714										
HIST1H2BD	3017	genome.wustl.edu	37	chr6	26158492	26158492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggacgggaagaagcgcaagcGcagccgcaaggagagctatt	16	9	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:26158492G>T	ENST00000289316.2	+	1	119	c.95G>T	c.(94-96)cGc>cTc	p.R32L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.R32L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	32					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AAGCGCAAGCGCAGCCGCAAG	0.552																																																	0													167	157	160					6																	26158492		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.95G>T	6.37:g.26158492G>T	ENSP00000289316:p.Arg32Leu			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.R32L	ENST00000289316.2	37	c.95	CCDS4587.1	6	.	.	.	.	.	.	.	.	.	.	.	16.81	3.225960	0.58668	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.70986	-0.53;-0.53	5.1	5.1	0.69264	Histone-fold (2);Histone core (1);	0.000000	0.41823	D	0.000812	T	0.61949	0.2388	M	0.76838	2.35	0.36096	D	0.843821	B	0.18166	0.026	B	0.31686	0.134	T	0.68176	-0.5478	10	0.72032	D	0.01	.	8.5677	0.33550	0.1652:0.0:0.8348:0.0	.	32	P58876	H2B1D_HUMAN	L	32	ENSP00000367008:R32L;ENSP00000289316:R32L	ENSP00000289316:R32L	R	+	2	0	HIST1H2BD	26266471	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.866000	0.48420	2.769000	0.95229	0.650000	0.86243	CGC	HIST1H2BD	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B		0.552	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BD	HGNC	protein_coding	OTTHUMT00000040088.1	G	NM_021063		26158492	1	no_errors	ENST00000289316	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26158492	G	T	26158492	3	4	50	1	0	0	0	0	1	0	0	0	7163	1087	38	2	97	2	HIST1H2BD	6	26158492	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	3870808	26158492	144956575	65	6715										
TRIM39	56658	genome.wustl.edu	37	chr6	30303588	30303588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agcttcataggcggctggatGaagagcagcaggtgttgctt	15	7	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30303588G>A	ENST00000396547.1	+	4	776	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.E118K|TRIM39_ENST00000376659.5_Missense_Mutation_p.E206K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E206K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E206K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E206K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E206K			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	206					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCGGCTGGATGAAGAGCAGCA	0.532																																																	0													51	51	51					6																	30303588		1509	2708	4217	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.616G>A	6.37:g.30303588G>A	ENSP00000379796:p.Glu206Lys		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E206K	ENST00000396547.1	37	c.616	CCDS34377.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222148|4.222148	0.79464|0.79464	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.67171|.	3.38;-0.03;3.38;-0.25;3.38;3.38;-0.03;3.38|.	5.33|5.33	4.46|4.46	0.54185|0.54185	.|.	0.181659|.	0.36101|.	N|.	0.002798|.	T|T	0.36663|0.36663	0.0975|0.0975	L|L	0.42245|0.42245	1.32|1.32	0.32712|0.32712	N|N	0.511453|0.511453	B;B;B|.	0.28055|.	0.094;0.059;0.199|.	B;B;B|.	0.34180|.	0.031;0.036;0.177|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.31617|.	T|.	0.26|.	.|.	11.6627|11.6627	0.51356|0.51356	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	120;206;206|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	K|I	206;206;206;206;206;120;206;206;206;206;118|135	ENSP00000379800:E206K;ENSP00000365844:E206K;ENSP00000439400:E206K;ENSP00000406019:E206K;ENSP00000379797:E206K;ENSP00000365847:E206K;ENSP00000379796:E206K;ENSP00000424048:E118K|.	ENSP00000365844:E206K|.	E|M	+|+	1|3	0|0	TRIM39-RPP21;TRIM39|TRIM39	30411567|30411567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.976000|3.976000	0.56867|0.56867	1.465000|1.465000	0.48006|0.48006	0.650000|0.650000	0.86243|0.86243	GAA|ATG	TRIM39	-	NULL		0.532	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	G	NM_172016		30303588	1	no_errors	ENST00000376656	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30303588	G	A	30303588	3	1	50	1	0	0	0	0	1	0	0	0	16544	1291	45	1	626	1	TRIM39	6	30303588	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	4145096	30303588	140811479	66	6716										
TUBB	203068	genome.wustl.edu	37	chr6	30691295	30691295	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggaatgggcactctccttatCagcaagatccgagaagaata	10	9	2	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30691295C>T	ENST00000327892.8	+	4	762	c.456C>T	c.(454-456)atC>atT	p.I152I	TUBB_ENST00000396384.1_Silent_p.I80I|TUBB_ENST00000330914.3_Silent_p.I80I|TUBB_ENST00000396389.1_Silent_p.I134I|TUBB_ENST00000435534.1_Intron|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	152					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CTCTCCTTATCAGCAAGATCC	0.567																																																	0													71	68	69					6																	30691295		2203	4300	6503	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.456C>T	6.37:g.30691295C>T			P05218|Q8WUC1|Q9CY33	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.I152	ENST00000327892.8	37	c.456	CCDS4687.1	6																																																																																			TUBB	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin		0.567	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	C	NM_178014		30691295	1	no_errors	ENST00000327892	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30691295	C	T	30691295	2	4	50	1	0	0	0	0	0	0	0	1	16783	816	29	1		1	TUBB	6	30691295	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	387707	30691295	140423772	67	6717										
DDR1	780	genome.wustl.edu	37	chr6	30867038	30867038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cacccttttcccagctgcatCggttcctggcagaggatgca	10	14	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30867038C>T	ENST00000324771.8	+	20	3255	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	DDR1_ENST00000376567.2_Missense_Mutation_p.R866W|DDR1_ENST00000376575.3_Missense_Mutation_p.R909W|DDR1_ENST00000418800.2_Missense_Mutation_p.R866W|DDR1_ENST00000513240.1_Missense_Mutation_p.R909W|DDR1_ENST00000452441.1_Missense_Mutation_p.R903W|DDR1_ENST00000376570.4_Missense_Mutation_p.R866W|DDR1_ENST00000376568.3_Missense_Mutation_p.R903W|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Missense_Mutation_p.R866W|DDR1_ENST00000508312.1_Missense_Mutation_p.R884W|DDR1_ENST00000454612.2_Missense_Mutation_p.R866W			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	903	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCAGCTGCATCGGTTCCTGGC	0.617																																																	0													124	104	111					6																	30867038		2203	4300	6503	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2707C>T	6.37:g.30867038C>T	ENSP00000318217:p.Arg903Trp		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R909W	ENST00000324771.8	37	c.2725	CCDS34385.1	6	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287105	0.59867	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.99	4.12	0.48240	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.357917	0.25804	N	0.028189	D	0.88976	0.6584	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.69654	0.949;0.949;0.965	D	0.87937	0.2714	10	0.37606	T	0.19	.	12.573	0.56347	0.1674:0.8326:0.0:0.0	.	884;909;903	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	W	903;866;866;866;909;866;903;903;884;866;909	ENSP00000318217:R903W;ENSP00000407699:R866W;ENSP00000406091:R866W;ENSP00000365753:R866W;ENSP00000365759:R909W;ENSP00000365754:R866W;ENSP00000365752:R903W;ENSP00000405039:R903W;ENSP00000422442:R884W;ENSP00000365751:R866W;ENSP00000427552:R909W	ENSP00000318217:R903W	R	+	1	2	DDR1	30975017	1.000000	0.71417	0.971000	0.41717	0.929000	0.56500	2.629000	0.46485	1.091000	0.41335	0.460000	0.39030	CGG	DDR1	-	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		0.617	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	C	NM_013994		30867038	1	no_errors	ENST00000376575	ensembl	human	known	70_37	missense	SNP	0.991	T	T	30867038	C	T	30867038	3	4	50	1	0	0	0	0	1	0	0	0	4341	875	31	1	2791	1	DDR1	6	30867038	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	175743	30867038	140248029	68	6718										
DPCR1	135656	genome.wustl.edu	37	chr6	30918216	30918216	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agaccacactattcccagcaGagcctacagaaaatagagaa	7	11	0	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30918216G>A	ENST00000462446.1	+	2	2003	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	228						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ATTCCCAGCAGAGCCTACAGA	0.478																																																	0													139	155	150					6																	30918216		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1975G>A	6.37:g.30918216G>A	ENSP00000417182:p.Glu659Lys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.E659K	ENST00000462446.1	37	c.1975	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	6.304	0.424135	0.11928	.	.	ENSG00000168631	ENST00000462446	T	0.45276	0.9	1.55	-3.1	0.05315	.	.	.	.	.	T	0.06096	0.0158	N	0.17082	0.46	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.38802	-0.9644	9	0.09590	T	0.72	.	6.0001	0.19515	0.4388:0.0:0.5612:0.0	.	659	E9PEI6	.	K	659	ENSP00000417182:E659K	ENSP00000417182:E659K	E	+	1	0	DPCR1	31026195	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.229000	0.09098	-0.783000	0.04534	0.109000	0.15622	GAG	DPCR1	-	NULL		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	G	NM_080870		30918216	1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	30918216	G	A	30918216	3	1	50	1	0	0	0	0	1	0	0	0	4722	943	33	1	1981	1	DPCR1	6	30918216	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	51178	30918216	140196851	69	6719										
CCHCR1	54535	genome.wustl.edu	37	chr6	31118560	31118560	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atgtctggctgtggacctcaGaaggcacttgttccccaaca	10	12	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:31118560G>A	ENST00000376266.5	-	6	898	c.776C>T	c.(775-777)tCt>tTt	p.S259F	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.S348F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S259F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S312F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	259					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GTGGACCTCAGAAGGCACTTG	0.522																																																	0													289	295	293					6																	31118560		1511	2709	4220	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.776C>T	6.37:g.31118560G>A	ENSP00000365442:p.Ser259Phe		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.S348F	ENST00000376266.5	37	c.1043	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	g	8.384	0.838097	0.16891	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	4.61	2.76	0.32466	.	1.072300	0.07289	N	0.872082	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B;P;B;P;P	0.48016	0.295;0.56;0.331;0.873;0.904	B;B;B;B;P	0.47981	0.183;0.446;0.183;0.382;0.563	T	0.47686	-0.9098	10	0.62326	D	0.03	-1.4278	5.5493	0.17081	0.1055:0.0:0.6854:0.2091	.	259;259;259;312;348	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	F	348;259;259;259;312	ENSP00000379566:S348F;ENSP00000365442:S259F;ENSP00000379561:S259F;ENSP00000401039:S312F	ENSP00000365442:S259F	S	-	2	0	CCHCR1	31226539	0.004000	0.15560	0.099000	0.21106	0.234000	0.25298	1.402000	0.34600	0.370000	0.24538	0.274000	0.19336	TCT	CCHCR1	-	pfam_HCR		0.522	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	G	NM_019052		31118560	-1	no_errors	ENST00000396268	ensembl	human	known	70_37	missense	SNP	0.001	A	A	31118560	G	A	31118560	3	1	50	1	0	0	0	0	1	0	0	0	2882	942	33	1	1624	1	CCHCR1	6	31118560	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	200344	31118560	139996507	70	6720										
HSPA1A	3303	genome.wustl.edu	37	chr6	31783743	31783743	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagaacaccgtgtttgacgcGaagcggctgattggccgcaa	13	11	0	3	rs534159834	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:31783743G>A	ENST00000375651.5	+	1	453	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HSPA1A_ENST00000458062.2_Intron|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Intron|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	70					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						TGTTTGACGCGAAGCGGCTGA	0.637													g|||	4	0.000798722	0.003	0	5008	,	,		18487	0		0	False		,,,				2504	0																0													2	3	3					6																	31783743		1544	3258	4802	SO:0001819	synonymous_variant	3303			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.210G>A	6.37:g.31783743G>A			B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A70	ENST00000375651.5	37	c.210	CCDS34414.1	6																																																																																			HSPA1A	-	pfam_Hsp_70_fam		0.637	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1A	HGNC	protein_coding	OTTHUMT00000076401.2	G			31783743	1	no_errors	ENST00000375651	ensembl	human	known	70_37	silent	SNP	0.987	A	A	31783743	G	A	31783743	2	1	50	1	0	0	0	0	0	0	0	1	7428	1045	37	1		1	HSPA1A	6	31783743	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	665183	31783743	139331324	71	6721										
ATF6B	1388	genome.wustl.edu	37	chr6	32083736	32083736	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cccccggggccccacggcctGacagggtctctgtgagaagg	15	15	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:32083736G>C	ENST00000375203.3	-	18	1924	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*	ATF6B_ENST00000375201.4_Nonsense_Mutation_p.S628*	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	631					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCCACGGCCTGACAGGGTCTC	0.582																																																	0													33	30	31					6																	32083736		2203	4300	6503	SO:0001587	stop_gained	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1892C>G	6.37:g.32083736G>C	ENSP00000364349:p.Ser631*		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Nonsense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.S631*	ENST00000375203.3	37	c.1892	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	g	39	7.416158	0.98269	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	.	.	.	5.34	5.34	0.76211	.	0.124289	0.33438	U	0.004905	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-8.7623	11.9393	0.52892	0.0:0.0:0.8263:0.1737	.	.	.	.	X	631;628	.	ENSP00000364347:S628X	S	-	2	0	ATF6B	32191714	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.563000	0.60823	2.677000	0.91161	0.461000	0.40582	TCA	ATF6B	-	NULL		0.582	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	G			32083736	-1	no_errors	ENST00000375203	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	32083736	G	C	32083736	4	2	50	1	0	0	0	0	0	1	0	0	1086	1294	45	1	223	1	ATF6B	6	32083736	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	299993	32083736	139031331	72	6722										
ANKS1A	23294	genome.wustl.edu	37	chr6	34951182	34951182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tctcatctccagtatggactCcatatcacagaagtctcagg	7	12	4	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:34951182C>G	ENST00000360359.3	+	7	1130	c.992C>G	c.(991-993)tCc>tGc	p.S331C	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	331					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTATGGACTCCATATCACAG	0.433																																																	0													132	149	144					6																	34951182		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.992C>G	6.37:g.34951182C>G	ENSP00000353518:p.Ser331Cys		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S331C	ENST00000360359.3	37	c.992	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951095	0.34471	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	T	0.54479	0.57	5.92	4.13	0.48395	.	0.289641	0.24866	N	0.034972	T	0.25005	0.0607	L	0.27053	0.805	0.58432	D	0.999995	P	0.38642	0.641	B	0.40101	0.319	T	0.16012	-1.0417	10	0.59425	D	0.04	-11.8256	7.5139	0.27590	0.0:0.7456:0.1683:0.0861	.	331	Q92625	ANS1A_HUMAN	C	331	ENSP00000353518:S331C	ENSP00000353518:S331C	S	+	2	0	ANKS1A	35059160	0.439000	0.25610	0.818000	0.32626	0.891000	0.51852	1.994000	0.40757	1.502000	0.48669	0.650000	0.86243	TCC	ANKS1A	-	NULL		0.433	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	C	XM_166478		34951182	1	no_errors	ENST00000360359	ensembl	human	known	70_37	missense	SNP	0.757	G	G	34951182	C	G	34951182	3	3	50	1	0	0	0	0	1	0	0	0	688	855	30	1	1018	1	ANKS1A	6	34951182	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2867446	34951182	136163885	73	6723										
TREML2	79865	genome.wustl.edu	37	chr6	41162210	41162210	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgaggagagatctgctggtGaggcagagccctgtggtggg	19	6	1	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:41162210G>A	ENST00000483722.1	-	3	923	c.738C>T	c.(736-738)ctC>ctT	p.L246L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	246					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTGCTGGTGAGGCAGAGCC	0.602																																																	0													81	84	83					6																	41162210		2203	4300	6503	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.738C>T	6.37:g.41162210G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.L246	ENST00000483722.1	37	c.738	CCDS4853.2	6																																																																																			TREML2	-	NULL		0.602	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	G	NM_024807		41162210	-1	no_errors	ENST00000483722	ensembl	human	known	70_37	silent	SNP	0.002	A	A	41162210	G	A	41162210	2	1	50	1	0	0	0	0	0	0	0	1	16504	1277	45	1		1	TREML2	6	41162210	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	6211028	41162210	129952857	74	6724										
EFHC1	114327	genome.wustl.edu	37	chr6	52288785	52288785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagacgctgagctacaggaaCggctatgcaattgttcgacg	12	10	0	2	rs534406651		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:52288785C>A	ENST00000371068.5	+	2	208	c.105C>A	c.(103-105)aaC>aaA	p.N35K	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.N16K|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	35						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GCTACAGGAACGGCTATGCAA	0.458																																																	0													91	87	88					6																	52288785		2203	4300	6503	SO:0001583	missense	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.105C>A	6.37:g.52288785C>A	ENSP00000360107:p.Asn35Lys		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.N35K	ENST00000371068.5	37	c.105	CCDS4942.1	6	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643870	0.47258	.	.	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.69926	-0.12;-0.44	5.98	-12.0	0.00017	.	0.186193	0.56097	D	0.000038	T	0.39306	0.1073	L	0.56124	1.755	0.80722	D	1	P;B	0.44521	0.837;0.377	B;B	0.43838	0.433;0.171	T	0.73122	-0.4082	10	0.37606	T	0.19	-13.4085	12.6003	0.56492	0.0844:0.4995:0.0:0.4161	.	16;35	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	K	35;16	ENSP00000360107:N35K;ENSP00000444521:N16K	ENSP00000360107:N35K	N	+	3	2	EFHC1	52396744	0.004000	0.15560	0.492000	0.27490	0.969000	0.65631	-1.455000	0.02379	-2.067000	0.00885	-1.128000	0.01989	AAC	EFHC1	-	NULL		0.458	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	HGNC	protein_coding	OTTHUMT00000040905.2	C	NM_018100		52288785	1	no_errors	ENST00000371068	ensembl	human	known	70_37	missense	SNP	0.168	A	A	52288785	C	A	52288785	3	1	50	1	0	0	0	0	1	0	0	0	4956	535	19	2	121	2	EFHC1	6	52288785	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	11126575	52288785	118826282	75	6725										
GCM1	8521	genome.wustl.edu	37	chr6	53010373	53010373	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tacctgtggcagtttcacatCattaatatcccagcttaata	5	10	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:53010373C>T	ENST00000259803.7	-	2	269	c.58G>A	c.(58-60)Gat>Aat	p.D20N	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	20					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGTTTCACATCATTAATATCC	0.423																																																	0													153	139	144					6																	53010373		2203	4300	6503	SO:0001583	missense	8521			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.58G>A	6.37:g.53010373C>T	ENSP00000259803:p.Asp20Asn		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.D20N	ENST00000259803.7	37	c.58	CCDS4950.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945625	0.73672	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.85982	0.5824	M	0.84219	2.685	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.87105	0.2181	10	0.87932	D	0	0.6149	18.3357	0.90287	0.0:1.0:0.0:0.0	.	20	Q9NP62	GCM1_HUMAN	N	20	ENSP00000259803:D20N	ENSP00000259803:D20N	D	-	1	0	GCM1	53118332	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.482000	0.60257	2.760000	0.94817	0.655000	0.94253	GAT	GCM1	-	superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM1	HGNC	protein_coding	OTTHUMT00000040953.1	C			53010373	-1	no_errors	ENST00000259803	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53010373	C	T	53010373	3	4	50	1	0	0	0	0	1	0	0	0	6316	826	29	1	1272	1	GCM1	6	53010373	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	721588	53010373	118104694	76	6726										
BAI3	577	genome.wustl.edu	37	chr6	69666033	69666033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ccatggaggctccgaatgcaGagggccatgggcagaaagca	15	10	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:69666033G>A	ENST00000370598.1	+	7	2134	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	438	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCCGAATGCAGAGGGCCATGG	0.552																																																	0													70	63	65					6																	69666033		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1313G>A	6.37:g.69666033G>A	ENSP00000359630:p.Arg438Lys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R438K	ENST00000370598.1	37	c.1313	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542208	0.65198	.	.	ENSG00000135298	ENST00000370598	T	0.49720	0.77	5.71	5.71	0.89125	.	0.052985	0.64402	D	0.000002	T	0.11922	0.0290	N	0.11756	0.17	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.09015	-1.0694	10	0.02654	T	1	.	13.0976	0.59202	0.0732:0.0:0.9268:0.0	.	438	O60242	BAI3_HUMAN	K	438	ENSP00000359630:R438K	ENSP00000359630:R438K	R	+	2	0	BAI3	69722754	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.457000	0.73505	2.701000	0.92244	0.591000	0.81541	AGA	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.552	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69666033	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69666033	G	A	69666033	3	1	50	1	0	0	0	0	1	0	0	0	1301	942	33	1	1331	1	BAI3	6	69666033	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	16655660	69666033	101449034	77	6727										
HTR1B	3351	genome.wustl.edu	37	chr6	78173057	78173057	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agcagaggataagttggcttGaggaacccaggtctcggagc	15	8	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:78173057G>C	ENST00000369947.2	-	1	433	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	22					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAGTTGGCTTGAGGAACCCAG	0.617																																																	0													102	99	100					6																	78173057		2203	4300	6503	SO:0001583	missense	3351			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.64C>G	6.37:g.78173057G>C	ENSP00000358963:p.Gln22Glu		Q4VAY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt	p.Q22E	ENST00000369947.2	37	c.64	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	G	1.653	-0.513489	0.04200	.	.	ENSG00000135312	ENST00000369947	T	0.61274	0.12	4.78	2.95	0.34219	.	0.727036	0.12749	N	0.442335	T	0.21022	0.0506	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22556	-1.0213	9	.	.	.	.	13.6839	0.62504	0.0:0.2958:0.7042:0.0	.	22	P28222	5HT1B_HUMAN	E	22	ENSP00000358963:Q22E	.	Q	-	1	0	HTR1B	78229776	0.037000	0.19845	0.004000	0.12327	0.057000	0.15508	2.175000	0.42491	0.592000	0.29728	-0.264000	0.10439	CAA	HTR1B	-	NULL		0.617	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	G	NM_000863		78173057	-1	no_errors	ENST00000369947	ensembl	human	known	70_37	missense	SNP	0.003	C	C	78173057	G	C	78173057	3	2	50	1	0	0	0	0	1	0	0	0	7457	1299	45	1	1112	1	HTR1B	6	78173057	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	8507024	78173057	92942010	78	6728										
TBX18	9096	genome.wustl.edu	37	chr6	85457706	85457706	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggagaatgcctttactccctCcccggatggaacaggcttga	11	12	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:85457706C>A	ENST00000369663.5	-	5	1208	c.871G>T	c.(871-873)Gag>Tag	p.E291*	TBX18_ENST00000606784.1_Nonsense_Mutation_p.E133*|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	291					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTTACTCCCTCCCCGGATGGA	0.453																																																	0													109	94	99					6																	85457706		2203	4300	6503	SO:0001587	stop_gained	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.871G>T	6.37:g.85457706C>A	ENSP00000358677:p.Glu291*		A2RU13|Q7Z6U4|Q9UJI6	Nonsense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E291*	ENST00000369663.5	37	c.871	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.688645	0.98434	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	.	.	.	5.86	5.86	0.93980	.	0.088776	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	.	.	.	X	206;291	.	ENSP00000358677:E291X	E	-	1	0	TBX18	85514425	1.000000	0.71417	0.996000	0.52242	0.417000	0.31264	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GAG	TBX18	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.453	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	C	NM_001080508		85457706	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	85457706	C	A	85457706	4	1	50	1	0	0	0	0	0	1	0	0	15683	864	30	3	968	3	TBX18	6	85457706	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	7284649	85457706	85657361	79	6729										
IFNGR1	3459	genome.wustl.edu	37	chr6	137519721	137519721	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctggtatgacgtgatgagtGatacatattttgattcaggt	12	4	1	5			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:137519721G>T	ENST00000367739.4	-	7	1038	c.917C>A	c.(916-918)tCa>tAa	p.S306*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.S278*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	306					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CGTGATGAGTGATACATATTT	0.388																																																	0													66	61	63					6																	137519721		2203	4300	6503	SO:0001587	stop_gained	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.917C>A	6.37:g.137519721G>T	ENSP00000356713:p.Ser306*		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S306*	ENST00000367739.4	37	c.917	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730923	0.89390	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	6.06	5.19	0.71726	.	2.485370	0.01475	N	0.016456	.	.	.	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0281	11.0557	0.47915	0.0844:0.0:0.9156:0.0	.	.	.	.	X	306;278	.	ENSP00000356713:S306X	S	-	2	0	IFNGR1	137561414	0.433000	0.25562	0.050000	0.19076	0.241000	0.25554	2.466000	0.45084	1.569000	0.49696	0.655000	0.94253	TCA	IFNGR1	-	pfam_Interferon_gamma_pox/mammal		0.388	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137519721	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	nonsense	SNP	0.199	T	T	137519721	G	T	137519721	4	4	50	1	0	0	0	0	0	1	0	0	7569	1294	45	3	556	3	IFNGR1	6	137519721	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	52062015	137519721	33595346	80	6730										
TCTE3	6991	genome.wustl.edu	37	chr6	170143221	170143221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ataaataatacttttataatGaacttataacggtggtaccc	5	6	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:170143221G>A	ENST00000366774.3	-	3	541	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	147					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTTTATAATGAACTTATAAC	0.353																																																	0													91	105	100					6																	170143221		2202	4299	6501	SO:0001819	synonymous_variant	6991			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"Tctex1 domain containing 3"	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.441C>T	6.37:g.170143221G>A				Silent	SNP	pfam_Tctex	p.F147	ENST00000366774.3	37	c.441	CCDS5310.1	6																																																																																			TCTE3	-	pfam_Tctex		0.353	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	HGNC	protein_coding	OTTHUMT00000043243.1	G	NM_174910		170143221	-1	no_errors	ENST00000366774	ensembl	human	known	70_37	silent	SNP	0.997	A	A	170143221	G	A	170143221	2	1	50	1	0	0	0	0	0	0	0	1	15748	1281	45	1		1	TCTE3	6	170143221	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	32623500	170143221	971846	81	6731										
C7orf28B	221960	genome.wustl.edu	37	chr7	6864357	6864357	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tttggatgataaaataaaatCttattttcctcctgaaacat	4	6	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:6864357C>T	ENST00000316731.8	-	2	704	c.132G>A	c.(130-132)aaG>aaA	p.K44K	CCZ1B_ENST00000538180.1_5'UTR	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	44						lysosome (GO:0005764)|membrane (GO:0016020)											AAAATAAAATCTTATTTTCCT	0.338																																																	0													32	34	33					7																	6864357		2188	4270	6458	SO:0001819	synonymous_variant	221960			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"similar to CGI-43 protein"		"chromosome 7 open reading frame 28B"	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.132G>A	7.37:g.6864357C>T			A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	pfam_DUF1712_fun	p.K44	ENST00000316731.8	37	c.132	CCDS5354.1	7																																																																																			CCZ1B	-	pfam_DUF1712_fun		0.338	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	C	NM_198097		6864357	-1	no_errors	ENST00000316731	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6864357	C	T	6864357	2	4	50	1	0	0	0	0	0	0	0	1	2389	912	32	1		1	C7orf28B	7	6864357	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		6864357	152274306	82	6732										
WBSCR17	64409	genome.wustl.edu	37	chr7	70885922	70885922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cggttctatcccgcatccagGaaaaccggaagcgtgtgatc	11	12	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:70885922G>A	ENST00000333538.5	+	5	1427	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	265					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGCATCCAGGAAAACCGGAA	0.542																																																	0													195	183	187					7																	70885922		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.793G>A	7.37:g.70885922G>A	ENSP00000329654:p.Glu265Lys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E265K	ENST00000333538.5	37	c.793	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877498	0.91664	.	.	ENSG00000185274	ENST00000333538	T	0.59638	0.25	5.27	4.39	0.52855	Glycosyl transferase, family 2 (1);	0.050014	0.85682	D	0.000000	T	0.71065	0.3296	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72636	-0.4233	10	0.56958	D	0.05	.	12.9124	0.58187	0.078:0.0:0.922:0.0	.	265	Q6IS24	GLTL3_HUMAN	K	265	ENSP00000329654:E265K	ENSP00000329654:E265K	E	+	1	0	WBSCR17	70523858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.529000	0.81952	1.223000	0.43536	0.650000	0.86243	GAA	WBSCR17	-	pfam_Glyco_trans_2		0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		70885922	1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70885922	G	A	70885922	3	1	50	1	0	0	0	0	1	0	0	0	17295	1175	41	1	811	1	WBSCR17	7	70885922	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	64021565	70885922	88252741	83	6733										
BAZ1B	9031	genome.wustl.edu	37	chr7	72884732	72884732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcatgactagtttggccttgGcaatcccttcctggaaagct	10	11	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:72884732G>A	ENST00000339594.4	-	8	3013	c.2675C>T	c.(2674-2676)gCc>gTc	p.A892V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A892V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	892					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTGGCCTTGGCAATCCCTTC	0.413																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													188	158	168					7																	72884732		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2675C>T	7.37:g.72884732G>A	ENSP00000342434:p.Ala892Val		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A892V	ENST00000339594.4	37	c.2675	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.488027	0.84854	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60171	0.21;0.21	5.31	5.31	0.75309	.	0.051005	0.85682	D	0.000000	T	0.48447	0.1500	L	0.40543	1.245	0.52099	D	0.999941	P	0.46987	0.888	B	0.39465	0.3	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.4033	17.9564	0.89070	0.0:0.0:1.0:0.0	.	892	Q9UIG0	BAZ1B_HUMAN	V	892	ENSP00000342434:A892V;ENSP00000385442:A892V	ENSP00000342434:A892V	A	-	2	0	BAZ1B	72522668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.400000	0.79949	2.509000	0.84616	0.650000	0.86243	GCC	BAZ1B	-	superfamily_ARM-type_fold		0.413	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	G	NM_032408		72884732	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72884732	G	A	72884732	3	1	50	1	0	0	0	0	1	0	0	0	1331	1203	42	4	1824	4	BAZ1B	7	72884732	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1998810	72884732	86253931	84	6734										
ELN	2006	genome.wustl.edu	37	chr7	73457475	73457475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggttcctcagcctggagccgGagtgaagcctgggaaagtgc	16	10	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:73457475G>A	ENST00000252034.7	+	8	803	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ELN_ENST00000458204.1_Missense_Mutation_p.G125E|ELN_ENST00000320399.6_Missense_Mutation_p.G135E|ELN_ENST00000357036.5_Missense_Mutation_p.G140E|ELN_ENST00000380584.4_Missense_Mutation_p.G135E|ELN_ENST00000429192.1_Missense_Mutation_p.G140E|ELN_ENST00000414324.1_Missense_Mutation_p.G130E|ELN_ENST00000445912.1_Missense_Mutation_p.G135E|ELN_ENST00000358929.4_Missense_Mutation_p.G135E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.G125E|ELN_ENST00000320492.7_Missense_Mutation_p.G123E|ELN_ENST00000380562.4_Missense_Mutation_p.G135E|ELN_ENST00000380576.5_Missense_Mutation_p.G135E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	135					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTGGAGCCGGAGTGAAGCCT	0.647			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													79	63	68					7																	73457475		2203	4300	6503	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.404G>A	7.37:g.73457475G>A	ENSP00000252034:p.Gly135Glu		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G135E	ENST00000252034.7	37	c.404	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265625	0.40095	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;D;T;D;T;T	0.82803	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;-1.65;0.86;-1.65;0.86;0.86	4.95	1.79	0.24919	.	.	.	.	.	T	0.81351	0.4804	M	0.67953	2.075	0.24675	N	0.993399	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52061	0.95;0.899;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	P;P;P;P;P;P;P;P;P;P;P;P;P	0.50708	0.648;0.571;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648	T	0.68682	-0.5344	9	0.08381	T	0.77	.	7.0456	0.25044	0.0:0.3194:0.4721:0.2086	.	135;104;123;130;125;135;125;140;140;135;125;135;135	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	135;135;135;113;123;123;130;135;125;135;125;140;135;140;104;135;135;135	ENSP00000389857:G135E;ENSP00000252034:G135E;ENSP00000351807:G135E;ENSP00000394549:G113E;ENSP00000315607:G123E;ENSP00000406949:G123E;ENSP00000392575:G130E;ENSP00000369936:G135E;ENSP00000369949:G125E;ENSP00000369958:G135E;ENSP00000403162:G125E;ENSP00000349540:G140E;ENSP00000411092:G135E;ENSP00000391129:G140E;ENSP00000403961:G135E;ENSP00000369950:G135E;ENSP00000313565:G135E	ENSP00000252034:G135E	G	+	2	0	ELN	73095411	0.036000	0.19791	0.312000	0.25196	0.721000	0.41392	0.388000	0.20735	0.454000	0.26884	0.298000	0.19748	GGA	ELN	-	NULL		0.647	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501		73457475	1	no_errors	ENST00000358929	ensembl	human	known	70_37	missense	SNP	0.548	A	A	73457475	G	A	73457475	3	1	50	1	0	0	0	0	1	0	0	0	5083	1174	41	1	449	1	ELN	7	73457475	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	572743	73457475	85681188	85	6735										
ADAM22	53616	genome.wustl.edu	37	chr7	87778331	87778331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgtgccgagaagcagtaaatGattgtgatattcgtgaaacg	12	5	0	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:87778331G>T	ENST00000265727.7	+	18	1604	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y	ADAM22_ENST00000398201.4_Missense_Mutation_p.D509Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.D509Y|ADAM22_ENST00000398209.3_Missense_Mutation_p.D509Y|ADAM22_ENST00000398204.4_Missense_Mutation_p.D509Y			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	509	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGTAAATGATTGTGATAT	0.368																																																	0													74	65	68					7																	87778331		1821	4078	5899	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1525G>T	7.37:g.87778331G>T	ENSP00000265727:p.Asp509Tyr		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D509Y	ENST00000265727.7	37	c.1525	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917266	0.92249	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.35	5.35	0.76521	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.63880	0.986;0.982;0.986;0.993	P;P;P;P	0.59115	0.825;0.731;0.825;0.852	T	0.55995	-0.8052	10	0.72032	D	0.01	.	17.8647	0.88792	0.0:0.0:1.0:0.0	.	561;509;509;509	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	509;509;509;509;509;476	ENSP00000381262:D509Y;ENSP00000381260:D509Y;ENSP00000265727:D509Y;ENSP00000315900:D509Y;ENSP00000381267:D509Y;ENSP00000381261:D476Y	ENSP00000265727:D509Y	D	+	1	0	ADAM22	87616267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.951000	0.75983	2.498000	0.84270	0.655000	0.94253	GAT	ADAM22	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.368	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	G	NM_021723		87778331	1	no_errors	ENST00000265727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87778331	G	T	87778331	3	4	50	1	0	0	0	0	1	0	0	0	244	1290	45	3	1595	3	ADAM22	7	87778331	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	14320856	87778331	71360332	86	6736										
DYNC1I1	1780	genome.wustl.edu	37	chr7	95705393	95705393	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	acaagccgctctactcctttGaagacaatgcagactatgtg	8	11	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:95705393G>A	ENST00000324972.6	+	15	1778	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.E512K|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.E512K|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.E509K|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.E492K|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.E492K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	529					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTACTCCTTTGAAGACAATGC	0.542											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													160	136	144					7																	95705393		2203	4300	6503	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1585G>A	7.37:g.95705393G>A	ENSP00000320130:p.Glu529Lys	1315	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E529K	ENST00000324972.6	37	c.1585	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.434682	0.96150	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38	4.38	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	M	0.90650	3.135	0.80722	D	1	D;D;D;D;P	0.57899	0.963;0.979;0.979;0.981;0.899	P;D;D;P;P	0.67725	0.899;0.923;0.953;0.792;0.676	T	0.17653	-1.0362	10	0.32370	T	0.25	-9.6715	17.1014	0.86651	0.0:0.0:1.0:0.0	.	512;509;512;529;492	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	K	512;529;492;509;492;512	ENSP00000392337:E512K;ENSP00000320130:E529K;ENSP00000438377:E492K;ENSP00000398118:E509K;ENSP00000352348:E492K;ENSP00000412444:E512K	ENSP00000320130:E529K	E	+	1	0	DYNC1I1	95543329	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.513000	0.98010	2.452000	0.82932	0.313000	0.20887	GAA	DYNC1I1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.542	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	G	NM_004411		95705393	1	no_errors	ENST00000324972	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95705393	G	A	95705393	3	1	50	1	0	0	0	0	1	0	0	0	4852	1291	45	1	1639	1	DYNC1I1	7	95705393	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7927062	95705393	63433270	87	6737										
SRPK2	6733	genome.wustl.edu	37	chr7	104773330	104773330	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgacgcgtctggatgtcttCcgtgaagtgtttatgctgga	13	8	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:104773330C>A	ENST00000393651.3	-	13	1747	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	SRPK2_ENST00000357311.3_Nonsense_Mutation_p.E543*|SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E543*	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TGGATGTCTTCCGTGAAGTGT	0.507																																																	0													58	51	54					7																	104773330		2203	4299	6502	SO:0001587	stop_gained	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1660G>T	7.37:g.104773330C>A	ENSP00000377262:p.Glu554*			Nonsense_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.E554*	ENST00000393651.3	37	c.1660	CCDS34724.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.642847|6.642847	0.97730|0.97730	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828|ENST00000477925	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80253	.|0.4589	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77453	.|-0.2582	.|3	.|.	.|.	.|.	-23.347|-23.347	20.3316|20.3316	0.98722|0.98722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	554;543;543|149	.|.	.|.	E|G	-|-	1|2	0|0	SRPK2|SRPK2	104560566|104560566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.772000|7.772000	0.85439|0.85439	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAA|GGA	SRPK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.507	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		104773330	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	104773330	C	A	104773330	4	1	50	1	0	0	0	0	0	1	0	0	15190	864	30	3	455	3	SRPK2	7	104773330	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	9067937	104773330	54365333	88	6738										
ARF5	381	genome.wustl.edu	37	chr7	127228576	127228576	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcctcaccgtgtccgcgctCttttcgcggatcttcgggaa	12	14	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:127228576C>G	ENST00000000233.5	+	1	178	c.24C>G	c.(22-24)ctC>ctG	p.L8L	ARF5_ENST00000467281.1_3'UTR|GCC1_ENST00000497650.1_Intron|GCC1_ENST00000321407.2_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	8					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TGTCCGCGCTCTTTTCGCGGA	0.761																																																	0													8	9	8					7																	127228576		2104	4185	6289	SO:0001819	synonymous_variant	381				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.24C>G	7.37:g.127228576C>G			P26437	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L8	ENST00000000233.5	37	c.24	CCDS34745.1	7																																																																																			ARF5	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF		0.761	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF5	HGNC	protein_coding	OTTHUMT00000059567.2	C	NM_001662		127228576	1	no_errors	ENST00000000233	ensembl	human	known	70_37	silent	SNP	1.000	G	G	127228576	C	G	127228576	2	3	50	1	0	0	0	0	0	0	0	1	847	900	32	1		1	ARF5	7	127228576	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	22455246	127228576	31910087	89	6739										
SLC4A2	6522	genome.wustl.edu	37	chr7	150768846	150768846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcgctccagggcgtggtcttCtgcctgctgggtgcccagcc	15	15	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150768846C>T	ENST00000485713.1	+	15	3302	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	SLC4A2_ENST00000413384.2_Silent_p.F754F|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.F745F|SLC4A2_ENST00000310317.5_Silent_p.F672F|SLC4A2_ENST00000461735.1_Silent_p.F740F	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	754	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGTGGTCTTCTGCCTGCTGG	0.617																																																	0													83	90	88					7																	150768846		2203	4300	6503	SO:0001819	synonymous_variant	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2262C>T	7.37:g.150768846C>T			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.F754	ENST00000485713.1	37	c.2262	CCDS5917.1	7																																																																																			SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	C	NM_003040		150768846	1	no_errors	ENST00000413384	ensembl	human	known	70_37	silent	SNP	1.000	T	T	150768846	C	T	150768846	2	4	50	1	0	0	0	0	0	0	0	1	14684	912	32	1		1	SLC4A2	7	150768846	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	23540270	150768846	8369817	90	6740										
SLC4A2	6522	genome.wustl.edu	37	chr7	150771157	150771157	+	Missense_Mutation	SNP	C	C	T													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcaccccctgcatggctgctCagcctccaacagctcagagg					rs543796017	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150771157C>T	ENST00000485713.1	+	17	3607	c.2567C>T	c.(2566-2568)tCa>tTa	p.S856L	SLC4A2_ENST00000413384.2_Missense_Mutation_p.S856L|FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S847L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S774L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.S842L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	856	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCTGCTCAGCCTCCAAC	0.637													C|||	3	0.000599042	0	0	5008	,	,		14290	0.003		0	False		,,,				2504	0																0													40	48	45					7																	150771157		2202	4299	6501	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2567C>T	7.37:g.150771157C>T	ENSP00000419412:p.Ser856Leu		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.S856L	ENST00000485713.1	37	c.2567	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	C	5.628	0.300533	0.10678	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.01	3.17	0.36434	Bicarbonate transporter, C-terminal (1);	0.163403	0.41097	N	0.000944	T	0.66147	0.2760	L	0.39245	1.2	0.34952	D	0.75137	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.68368	-0.5427	10	0.48119	T	0.1	.	7.7092	0.28667	0.0:0.8049:0.0:0.1951	.	847;842;856	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	L	856;856;774;847;842	ENSP00000419412:S856L;ENSP00000405600:S856L;ENSP00000311402:S774L;ENSP00000376571:S847L;ENSP00000419164:S842L	ENSP00000311402:S774L	S	+	2	0	SLC4A2	150402090	0.000000	0.05858	0.038000	0.18304	0.369000	0.29798	-0.136000	0.10405	1.345000	0.45676	0.561000	0.74099	TCA	SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	C	NM_003040		150771157	1	no_errors	ENST00000413384	ensembl	human	known	70_37	missense	SNP	0.440	T	T	150771157	C	T	150771157	3	4	50	1	0	0	0	0	1	0	0	0	14684	838	29	1	2629	1	SLC4A2	7	150771157	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2311	150771157	8367506	91	6741	32	2								
SLC4A2	6522	genome.wustl.edu	37	chr7	150771163	150771163	+	Missense_Mutation	SNP	C	C	A													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cctgcatggctgctcagcctCcaacagctcagaggtggacg							TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150771163C>A	ENST00000485713.1	+	17	3613	c.2573C>A	c.(2572-2574)tCc>tAc	p.S858Y	SLC4A2_ENST00000413384.2_Missense_Mutation_p.S858Y|FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S849Y|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S776Y|SLC4A2_ENST00000461735.1_Missense_Mutation_p.S844Y	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	858	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCAGCCTCCAACAGCTCA	0.647																																																	0													40	47	45					7																	150771163		2202	4299	6501	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2573C>A	7.37:g.150771163C>A	ENSP00000419412:p.Ser858Tyr		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.S858Y	ENST00000485713.1	37	c.2573	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.248918	0.01469	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.01	5.01	0.66863	Bicarbonate transporter, C-terminal (1);	0.283962	0.34200	N	0.004165	T	0.61689	0.2367	N	0.19112	0.55	0.38214	D	0.940567	B;B;B	0.13594	0.008;0.003;0.004	B;B;B	0.16722	0.009;0.009;0.016	T	0.58148	-0.7687	10	0.02654	T	1	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	849;844;858	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	Y	858;858;776;849;844	ENSP00000419412:S858Y;ENSP00000405600:S858Y;ENSP00000311402:S776Y;ENSP00000376571:S849Y;ENSP00000419164:S844Y	ENSP00000311402:S776Y	S	+	2	0	SLC4A2	150402096	0.003000	0.15002	0.985000	0.45067	0.236000	0.25371	0.757000	0.26433	2.607000	0.88179	0.561000	0.74099	TCC	SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	C	NM_003040		150771163	1	no_errors	ENST00000413384	ensembl	human	known	70_37	missense	SNP	0.989	A	A	150771163	C	A	150771163	3	1	50	1	0	0	0	0	1	0	0	0	14684	855	30	3	2635	3	SLC4A2	7	150771163	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	6	150771163	8367500	92	6742	32	2								
MLL3	58508	genome.wustl.edu	37	chr7	151874923	151874923	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctctgtggtgaaaaatgctGaggaagtccaactggattat	12	6	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:151874923G>A	ENST00000262189.6	-	38	7833	c.7615C>T	c.(7615-7617)Cag>Tag	p.Q2539*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2539*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2539	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAAAAATGCTGAGGAAGTCCA	0.453																																																	0													123	126	125					7																	151874923		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7615C>T	7.37:g.151874923G>A	ENSP00000262189:p.Gln2539*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2539*	ENST00000262189.6	37	c.7615	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.395385|15.395385	0.99832|0.99832	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	5.75|5.75	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.44285|.	D|.	0.000471|.	.|T	.|0.72898	.|0.3518	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72915	.|-0.4147	.|4	0.51188|.	T|.	0.08|.	.|.	16.8113|16.8113	0.85720|0.85720	0.0:0.1288:0.8712:0.0|0.0:0.1288:0.8712:0.0	.|.	.|.	.|.	.|.	X|L	2539|44	.|.	ENSP00000262189:Q2539X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151505856|151505856	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.969000|0.969000	0.65631|0.65631	7.483000|7.483000	0.81158|0.81158	1.424000|1.424000	0.47217|0.47217	0.650000|0.650000	0.86243|0.86243	CAG|TCA	MLL3	-	NULL		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151874923	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151874923	G	A	151874923	4	1	50	1	0	0	0	0	0	1	0	0	9645	1299	45	1	7208	1	MLL3	7	151874923	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1103760	151874923	7263740	93	6743										
GFRA2	2675	genome.wustl.edu	37	chr8	21608368	21608368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gatgtaggaggagcgcagctTcttgcagttgtcattcaggt	14	7	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:21608368T>C	ENST00000524240.1	-	4	1176	c.526A>G	c.(526-528)Aag>Gag	p.K176E	GFRA2_ENST00000518077.1_Missense_Mutation_p.K43E|GFRA2_ENST00000517328.1_Missense_Mutation_p.K176E|GFRA2_ENST00000400782.4_Missense_Mutation_p.K71E	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	176					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCGCAGCTTCTTGCAGTTG	0.617																																																	0													41	48	46					8																	21608368		2197	4297	6494	SO:0001583	missense	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.526A>G	8.37:g.21608368T>C	ENSP00000428518:p.Lys176Glu		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.K176E	ENST00000524240.1	37	c.526	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826045	0.50739	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.76	4.76	0.60689	GDNF/GAS1 (2);	0.103202	0.64402	D	0.000014	T	0.52338	0.1728	L	0.42245	1.32	0.35560	D	0.804637	P;P;B	0.44006	0.824;0.678;0.093	B;B;B	0.39805	0.31;0.265;0.077	T	0.65631	-0.6121	10	0.51188	T	0.08	-29.3786	10.0294	0.42092	0.0:0.0:0.3183:0.6817	.	43;71;176	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	E	176;71;176;43;71;176;168	ENSP00000428518:K176E;ENSP00000383592:K71E;ENSP00000429445:K176E;ENSP00000429206:K43E;ENSP00000429979:K71E;ENSP00000428721:K176E	ENSP00000383592:K71E	K	-	1	0	GFRA2	21652648	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.758000	0.38410	1.784000	0.52394	0.260000	0.18958	AAG	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.617	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	T	NM_001495		21608368	-1	no_errors	ENST00000517328	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21608368	T	C	21608368	3	2	50	1	0	0	0	0	1	0	0	0	6367	1792	62	5	892	5	GFRA2	8	21608368	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09		21608368	124755654	94	6744										
PDLIM2	64236	genome.wustl.edu	37	chr8	22447189	22447189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcaggaaaatcgcgagggacGggcggccccccgacagtcca	15	14	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:22447189G>A	ENST00000397760.4	+	8	1098	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	PDLIM2_ENST00000409141.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000265810.4_Missense_Mutation_p.R233Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R233Q|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R483Q|AC037459.4_ENST00000430850.2_Missense_Mutation_p.R27Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R233Q			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	233						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CGCGAGGGACGGGCGGCCCCC	0.657																																																	0													19	20	20					8																	22447189		2199	4290	6489	SO:0001583	missense	64236			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.698G>A	8.37:g.22447189G>A	ENSP00000380867:p.Arg233Gln		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R483Q	ENST00000397760.4	37	c.1448		8	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171921	0.57584	.	.	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235;ENSG00000248235	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000409141;ENST00000265810;ENST00000409417;ENST00000450780;ENST00000430850	T;T;T;T;T;T;T;T;T;T	0.30182	1.74;3.54;2.6;2.6;2.6;2.6;2.6;2.67;2.6;1.54	5.16	3.34	0.38264	.	0.073529	0.56097	D	0.000037	T	0.16514	0.0397	L	0.41824	1.3	0.32131	N	0.586729	B;P;B;B	0.42357	0.41;0.777;0.168;0.059	B;B;B;B	0.26517	0.017;0.07;0.023;0.01	T	0.19353	-1.0308	10	0.13470	T	0.59	-22.2844	10.3648	0.44017	0.1643:0.0:0.8357:0.0	.	27;233;233;233	B3KPU0;Q96JY6-3;Q96JY6-4;Q96JY6	.;.;.;PDLI2_HUMAN	Q	233;483;233;233;233;233;233;233;233;61;27	ENSP00000401992:R233Q;ENSP00000312634:R483Q;ENSP00000394376:R233Q;ENSP00000380867:R233Q;ENSP00000342035:R233Q;ENSP00000380868:R233Q;ENSP00000386868:R233Q;ENSP00000265810:R233Q;ENSP00000387084:R233Q;ENSP00000428700:R27Q	ENSP00000428700:R27Q	R	+	2	0	AC037459.4;PDLIM2	22503134	0.654000	0.27367	0.440000	0.26846	0.543000	0.35085	3.285000	0.51716	1.319000	0.45190	0.558000	0.71614	CGG	PDLIM2	-	NULL		0.657	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	G			22447189	1	no_errors	ENST00000308354	ensembl	human	known	70_37	missense	SNP	0.797	A	A	22447189	G	A	22447189	3	1	50	1	0	0	0	0	1	0	0	0	11704	1116	39	2	724	2	PDLIM2	8	22447189	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	838821	22447189	123916833	95	6745										
RALYL	138046	genome.wustl.edu	37	chr8	85762241	85762241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgtctttgactatgattactAcagagatgatttctacaatc	6	7	2	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:85762241A>G	ENST00000521268.1	+	5	1497	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	RALYL_ENST00000523850.1_Missense_Mutation_p.Y58C|RALYL_ENST00000521695.1_Missense_Mutation_p.Y131C|RALYL_ENST00000522455.1_Missense_Mutation_p.Y131C|RALYL_ENST00000518566.1_Missense_Mutation_p.Y120C|RALYL_ENST00000517638.1_Missense_Mutation_p.Y144C|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	131							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TATGATTACTACAGAGATGAT	0.279																																																	0													104	93	97					8																	85762241		1787	4044	5831	SO:0001583	missense	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.392A>G	8.37:g.85762241A>G	ENSP00000430367:p.Tyr131Cys		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.Y131C	ENST00000521268.1	37	c.392	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	A	19.26	3.794209	0.70452	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.23348	2.62;2.62;2.62;2.72;2.63;1.91	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.94;0.969;0.999;0.96;0.969	T	0.48281	-0.9049	10	0.66056	D	0.02	-4.3857	13.7067	0.62644	1.0:0.0:0.0:0.0	.	120;131;58;144;131	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	131;131;131;120;144;58	ENSP00000430394:Y131C;ENSP00000428667:Y131C;ENSP00000430367:Y131C;ENSP00000430065:Y120C;ENSP00000430128:Y144C;ENSP00000428807:Y58C	ENSP00000430128:Y144C	Y	+	2	0	RALYL	85924796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.965000	0.70387	2.070000	0.61991	0.523000	0.50628	TAC	RALYL	-	pirsf_hnRNP_C_Raly		0.279	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	A			85762241	1	no_errors	ENST00000521268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85762241	A	G	85762241	3	3	50	1	0	0	0	0	1	0	0	0	13050	391	14	5	449	5	RALYL	8	85762241	Missense_Mutation	SNP	A	TCGA-C5-A7UH-01A-11D-A351-09	63315052	85762241	60601781	96	6746										
MATN2	4147	genome.wustl.edu	37	chr8	98943460	98943460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	catgactgggctggccatccAgtatgccctgaacatcgcat	10	13	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:98943460A>G	ENST00000520016.1	+	2	546	c.422A>G	c.(421-423)cAg>cGg	p.Q141R	MATN2_ENST00000521689.1_Missense_Mutation_p.Q141R|MATN2_ENST00000524308.1_Missense_Mutation_p.Q141R|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.Q141R			O00339	MATN2_HUMAN	matrilin 2	141	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGGCCATCCAGTATGCCCTG	0.587																																																	0													42	46	45					8																	98943460		2092	4250	6342	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.422A>G	8.37:g.98943460A>G	ENSP00000430487:p.Gln141Arg		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.Q141R	ENST00000520016.1	37	c.422	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713457	0.68730	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.85999	0.5828	L	0.28556	0.865	0.38938	D	0.958087	P;D;D;D	0.76494	0.884;0.984;0.999;0.999	P;D;D;D	0.83275	0.834;0.969;0.996;0.996	D	0.85206	0.1018	10	0.28530	T	0.3	-26.7197	16.4608	0.84044	1.0:0.0:0.0:0.0	.	141;141;141;141	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	R	141	ENSP00000429977:Q141R;ENSP00000254898:Q141R;ENSP00000430221:Q141R;ENSP00000430487:Q141R	ENSP00000254898:Q141R	Q	+	2	0	MATN2	99012636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.300000	0.72776	2.288000	0.76882	0.533000	0.62120	CAG	MATN2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	A			98943460	1	no_errors	ENST00000254898	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98943460	A	G	98943460	3	3	50	1	0	0	0	0	1	0	0	0	9357	188	7	5	428	5	MATN2	8	98943460	Missense_Mutation	SNP	A	TCGA-C5-A7UH-01A-11D-A351-09	13181219	98943460	47420562	97	6747										
KCNV1	27012	genome.wustl.edu	37	chr8	110986320	110986320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctgcggtcgaagaagtactCgttgtccacggggttggcat	15	9	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:110986320C>T	ENST00000524391.1	-	2	1330	c.298G>A	c.(298-300)Gag>Aag	p.E100K	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.E100K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	100					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AAGAAGTACTCGTTGTCCACG	0.667																																																	0													42	36	38					8																	110986320		2203	4299	6502	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.298G>A	8.37:g.110986320C>T	ENSP00000435954:p.Glu100Lys		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.E100K	ENST00000524391.1	37	c.298	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.663543	0.96745	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.79454	-1.27;-1.27	4.85	4.85	0.62838	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.051733	0.85682	D	0.000000	D	0.90459	0.7012	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	D	0.93227	0.6614	10	0.87932	D	0	.	17.1304	0.86725	0.0:1.0:0.0:0.0	.	100	Q6PIU1	KCNV1_HUMAN	K	100	ENSP00000435954:E100K;ENSP00000297404:E100K	ENSP00000297404:E100K	E	-	1	0	KCNV1	111055496	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.851000	0.69481	2.496000	0.84212	0.655000	0.94253	GAG	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4		0.667	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	C	NM_014379		110986320	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110986320	C	T	110986320	3	4	50	1	0	0	0	0	1	0	0	0	8114	893	31	1	1216	1	KCNV1	8	110986320	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	12042860	110986320	35377702	98	6748										
ZFAT	57623	genome.wustl.edu	37	chr8	135614806	135614806	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcagagctcgtccaaggcctCtttgaccttcttgtcctgtg	10	13	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:135614806C>T	ENST00000377838.3	-	6	1330	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ZFAT_ENST00000520214.1_Missense_Mutation_p.E374K|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.E374K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E324K|ZFAT_ENST00000520727.1_Missense_Mutation_p.E374K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E374K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	386					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCAAGGCCTCTTTGACCTTC	0.562																																																	0													69	71	70					8																	135614806		2108	4230	6338	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1156G>A	8.37:g.135614806C>T	ENSP00000367069:p.Glu386Lys		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E386K	ENST00000377838.3	37	c.1156	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382969	0.61845	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09723	3.02;2.95;2.96;2.96;2.95;2.98	5.74	5.74	0.90152	.	0.199842	0.43747	D	0.000539	T	0.20414	0.0491	N	0.24115	0.695	0.49798	D	0.999821	P;D;P;P	0.76494	0.947;0.999;0.952;0.651	B;D;P;B	0.65684	0.293;0.937;0.6;0.115	T	0.02075	-1.1218	10	0.32370	T	0.25	-40.8073	18.9218	0.92528	0.0:1.0:0.0:0.0	.	324;374;374;386	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	374;374;374;386;374;374;324;374	ENSP00000427879:E374K;ENSP00000427831:E374K;ENSP00000394501:E374K;ENSP00000367069:E386K;ENSP00000428483:E374K;ENSP00000429091:E324K	ENSP00000326997:E374K	E	-	1	0	ZFAT	135683988	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.673000	0.54591	2.717000	0.92951	0.563000	0.77884	GAG	ZFAT	-	NULL		0.562	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135614806	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	0.996	T	T	135614806	C	T	135614806	3	4	50	1	0	0	0	0	1	0	0	0	17662	922	32	1	2619	1	ZFAT	8	135614806	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	24628486	135614806	10749216	99	6749										
GPAA1	8733	genome.wustl.edu	37	chr8	145138198	145138198	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gacttcgccgcccaccgcaaGaagtcggggtgagcggcaga	15	13	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:145138198G>T	ENST00000355091.4	+	2	367	c.246G>T	c.(244-246)aaG>aaT	p.K82N	GPAA1_ENST00000361036.6_Intron|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	82					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACCGCAAGAAGTCGGGGT	0.672																																																	0													25	27	27					8																	145138198		1901	4103	6004	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.246G>T	8.37:g.145138198G>T	ENSP00000347206:p.Lys82Asn		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.K82N	ENST00000355091.4	37	c.246	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193794	0.58017	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000524418;ENST00000530258	.	.	.	5.17	2.4	0.29515	.	0.298433	0.37136	N	0.002221	T	0.47637	0.1456	L	0.58101	1.795	0.80722	D	1	B	0.21606	0.058	B	0.23419	0.046	T	0.24154	-1.0168	9	0.12766	T	0.61	-10.1526	8.6633	0.34106	0.2482:0.0:0.7518:0.0	.	82	O43292	GPAA1_HUMAN	N	82;82;82;33	.	ENSP00000347206:K82N	K	+	3	2	GPAA1	145210186	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.296000	0.59055	0.197000	0.20387	0.655000	0.94253	AAG	GPAA1	-	pirsf_GPI_prot_transamidse_cplx_GAA1		0.672	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	G	NM_003801		145138198	1	no_errors	ENST00000355091	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145138198	G	T	145138198	3	4	50	1	0	0	0	0	1	0	0	0	6606	933	33	3	252	3	GPAA1	8	145138198	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	9523392	145138198	1225824	100	6750										
GPAA1	8733	genome.wustl.edu	37	chr8	145138904	145138904	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aacatgaccttctgggcactGaggcttggcttgaagcctac	11	11	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:145138904G>A	ENST00000355091.4	+	5	698	c.577G>A	c.(577-579)Gag>Aag	p.E193K	GPAA1_ENST00000361036.6_Missense_Mutation_p.E133K|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	193					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGCACTGAGGCTTGGCT	0.562																																																	0													107	115	112					8																	145138904		2129	4234	6363	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.577G>A	8.37:g.145138904G>A	ENSP00000347206:p.Glu193Lys		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.E193K	ENST00000355091.4	37	c.577	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852647	0.71719	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036;ENST00000524418	.	.	.	5.47	5.47	0.80525	.	0.053952	0.64402	D	0.000001	T	0.54255	0.1847	L	0.29908	0.895	0.50467	D	0.999877	P;P	0.49559	0.925;0.822	P;B	0.49922	0.626;0.337	T	0.45323	-0.9269	9	0.17369	T	0.5	-26.3852	16.8077	0.85710	0.0:0.0:1.0:0.0	.	193;133	O43292;O43292-2	GPAA1_HUMAN;.	K	193;121;133;179	.	ENSP00000347206:E193K	E	+	1	0	GPAA1	145210892	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.416000	0.73332	2.570000	0.86706	0.561000	0.74099	GAG	GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.562	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	G	NM_003801		145138904	1	no_errors	ENST00000355091	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145138904	G	A	145138904	3	1	50	1	0	0	0	0	1	0	0	0	6606	1291	45	1	595	1	GPAA1	8	145138904	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	706	145138904	1225118	101	6751										
NOL6	65083	genome.wustl.edu	37	chr9	33463870	33463870	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gggatccatgagctgcttctCtaacatgggcagggcttcag	13	10	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:33463870C>T	ENST00000379471.2	-	23	3040	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.E933K			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	985					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCTGCTTCTCTAACATGGGC	0.577																																																	0													75	73	74					9																	33463870		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2953G>A	9.37:g.33463870C>T	ENSP00000368784:p.Glu985Lys		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.E985K	ENST00000379471.2	37	c.2953		9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838110	0.91117	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	L	0.58101	1.795	0.80722	D	1	P;P;D;P	0.65815	0.926;0.737;0.995;0.778	P;B;D;P	0.67725	0.517;0.396;0.953;0.531	T	0.47886	-0.9082	10	0.09084	T	0.74	.	19.6732	0.95918	0.0:1.0:0.0:0.0	.	933;982;985;985	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	K	39;985;985;541;985;933	ENSP00000368783:E39K;ENSP00000297990:E985K;ENSP00000368784:E985K;ENSP00000395915:E933K	ENSP00000297990:E985K	E	-	1	0	NOL6	33453870	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.499000	0.73683	2.745000	0.94114	0.655000	0.94253	GAG	NOL6	-	pfam_Nrap		0.577	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	C	NM_022917		33463870	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33463870	C	T	33463870	3	4	50	1	0	0	0	0	1	0	0	0	10549	922	32	1	503	1	NOL6	9	33463870	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		33463870	107749561	102	6752										
RUSC2	9853	genome.wustl.edu	37	chr9	35546762	35546762	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gaggaactgcacggtctataGacagcaccaagagtaggagt	13	8	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:35546762G>A	ENST00000455600.1	+	2	813	c.244G>A	c.(244-246)Gac>Aac	p.D82N	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	82						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACGGTCTATAGACAGCACCAA	0.587																																																	0													76	70	72					9																	35546762		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.244G>A	9.37:g.35546762G>A	ENSP00000393922:p.Asp82Asn		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.D82N	ENST00000455600.1	37	c.244	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233758	0.39498	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23552	1.9;1.9	5.51	5.51	0.81932	.	0.356059	0.29159	N	0.012976	T	0.21267	0.0512	N	0.24115	0.695	0.43714	D	0.996187	B	0.14805	0.011	B	0.08055	0.003	T	0.02378	-1.1168	10	0.42905	T	0.14	-13.3846	18.3955	0.90496	0.0:0.0:1.0:0.0	.	82	Q8N2Y8	RUSC2_HUMAN	N	82	ENSP00000355177:D82N;ENSP00000393922:D82N	ENSP00000355177:D82N	D	+	1	0	RUSC2	35536762	0.313000	0.24554	0.998000	0.56505	0.501000	0.33797	2.863000	0.48396	2.591000	0.87537	0.555000	0.69702	GAC	RUSC2	-	NULL		0.587	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35546762	1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	0.989	A	A	35546762	G	A	35546762	3	1	50	1	0	0	0	0	1	0	0	0	13781	942	33	1	246	1	RUSC2	9	35546762	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2082892	35546762	105666669	103	6753										
MAMDC2	256691	genome.wustl.edu	37	chr9	72727910	72727910	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtttttgtttcccttccccaGaatgtgactttgaagaaaat	7	8	0	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:72727910G>A	ENST00000377182.4	+	5	1122		c.e5-1		MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2						peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCCTTCCCCAGAATGTGACTT	0.443																																																	0													120	112	115					9																	72727910		2203	4300	6503	SO:0001630	splice_region_variant	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.506-1G>A	9.37:g.72727910G>A			Q5VW47|Q8WX43|Q96BM4	Splice_Site	SNP	-	e5-1	ENST00000377182.4	37	c.506-1	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309285	0.81247	.	.	ENSG00000165072	ENST00000377182	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1445	0.98072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAMDC2	71917730	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.963000	0.76055	2.765000	0.95021	0.561000	0.74099	.	MAMDC2	-	-		0.443	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	G	NM_153267	Intron	72727910	1	no_errors	ENST00000377182	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	72727910	G	A	72727910	5	1	50	1	0	0	0	0	0	0	1	0	9226	956	33	1	523	1	MAMDC2	9	72727910	Splice_Site	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	37181148	72727910	68485521	104	6754										
GDA	9615	genome.wustl.edu	37	chr9	74828903	74828903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aggaatcgatcaaggaaactGagaggtaaaaggcccatttg	12	6	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:74828903G>A	ENST00000358399.3	+	5	667	c.574G>A	c.(574-576)Gag>Aag	p.E192K	GDA_ENST00000376989.3_Missense_Mutation_p.E167K|GDA_ENST00000376986.1_Missense_Mutation_p.E150K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.E192K|GDA_ENST00000545168.1_Missense_Mutation_p.E118K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	192					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAAGGAAACTGAGAGGTAAAA	0.418																																																	0													109	103	105					9																	74828903		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.574G>A	9.37:g.74828903G>A	ENSP00000351170:p.Glu192Lys		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.E192K	ENST00000358399.3	37	c.574	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	4.547	0.101525	0.08731	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.64	1.72	0.24424	Amidohydrolase 1 (1);	0.568015	0.21072	N	0.080657	T	0.78432	0.4282	N	0.25485	0.75	0.42570	D	0.993171	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.64206	-0.6462	10	0.02654	T	1	-6.2647	5.9909	0.19460	0.2106:0.2541:0.5352:0.0	.	150;192;192	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	118;192;167;150;192	ENSP00000437972:E118K;ENSP00000238018:E192K;ENSP00000366188:E167K;ENSP00000366185:E150K;ENSP00000351170:E192K	ENSP00000238018:E192K	E	+	1	0	GDA	74018723	0.201000	0.23410	0.452000	0.26994	0.266000	0.26442	0.313000	0.19415	0.054000	0.16065	-0.282000	0.10007	GAG	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase		0.418	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	G			74828903	1	no_errors	ENST00000238018	ensembl	human	known	70_37	missense	SNP	0.600	A	A	74828903	G	A	74828903	3	1	50	1	0	0	0	0	1	0	0	0	6325	1291	45	1	592	1	GDA	9	74828903	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2100993	74828903	66384528	105	6755										
VPS13A	23230	genome.wustl.edu	37	chr9	79980379	79980379	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgtgttccttttataggttGagctttttcataaagatata	7	4	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:79980379G>A	ENST00000360280.3	+	60	8475	c.8215G>A	c.(8215-8217)Gag>Aag	p.E2739K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E2700K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E2739K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E2739K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2739					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTATAGGTTGAGCTTTTTCA	0.308																																																	0													68	68	68					9																	79980379		2201	4298	6499	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8215G>A	9.37:g.79980379G>A	ENSP00000353422:p.Glu2739Lys		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E2739K	ENST00000360280.3	37	c.8215	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369424	0.42003	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47528	1.02;0.84;0.93;1.02	5.54	5.54	0.83059	.	0.167681	0.51477	D	0.000085	T	0.47619	0.1455	L	0.46157	1.445	0.80722	D	1	B;P;P;P	0.41232	0.012;0.485;0.743;0.619	B;B;B;B	0.43331	0.037;0.142;0.416;0.276	T	0.35674	-0.9779	9	.	.	.	.	16.4741	0.84127	0.0:0.1308:0.8691:0.0	.	2700;2739;2739;2739	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	2739;2700;2739;2739	ENSP00000365821:E2739K;ENSP00000365823:E2700K;ENSP00000353422:E2739K;ENSP00000349985:E2739K	.	E	+	1	0	VPS13A	79170199	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.395000	0.59678	2.592000	0.87571	0.650000	0.86243	GAG	VPS13A	-	NULL		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79980379	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79980379	G	A	79980379	3	1	50	1	0	0	0	0	1	0	0	0	17220	1291	45	1	8453	1	VPS13A	9	79980379	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	5151476	79980379	61233052	106	6756										
ROR2	4920	genome.wustl.edu	37	chr9	94538029	94538029	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atgtcccagctcacctttcaGagttggaatcgggccgtcct	10	13	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:94538029G>A	ENST00000375708.3	-	2	367	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	57	Ig-like C2-type.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCTTTCAGAGTTGGAATC	0.552											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	69	74					9																	94538029		2203	4300	6503	SO:0001819	synonymous_variant	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.169C>T	9.37:g.94538029G>A		1306	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L57	ENST00000375708.3	37	c.169	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like		0.552	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	G			94538029	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	silent	SNP	1.000	A	A	94538029	G	A	94538029	2	1	50	1	0	0	0	0	0	0	0	1	13557	933	33	1		1	ROR2	9	94538029	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	14557650	94538029	46675402	107	6757										
ALDOB	229	genome.wustl.edu	37	chr9	104187132	104187132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcagcatcttaccatggccCgcttcataaaagcctcctgg	9	14	2	0	rs371526091	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:104187132C>T	ENST00000374855.4	-	8	1116	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	331					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TACCATGGCCCGCTTCATAAA	0.522																																																	0													109	104	106					9																	104187132		2203	4300	6503	SO:0001583	missense	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.992G>A	9.37:g.104187132C>T	ENSP00000363988:p.Arg331Gln		Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.R331Q	ENST00000374855.4	37	c.992	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.743349	0.96873	.	.	ENSG00000136872	ENST00000374855	D	0.87491	-2.26	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.95794	0.8827	10	0.87932	D	0	-12.898	19.0349	0.92972	0.0:1.0:0.0:0.0	.	331	P05062	ALDOB_HUMAN	Q	331	ENSP00000363988:R331Q	ENSP00000363988:R331Q	R	-	2	0	ALDOB	103226953	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.776000	0.85560	2.815000	0.96918	0.561000	0.74099	CGG	ALDOB	-	pfam_Aldolase_I		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	C			104187132	-1	no_errors	ENST00000374855	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104187132	C	T	104187132	3	4	50	1	0	0	0	0	1	0	0	0	508	652	23	2	110	2	ALDOB	9	104187132	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	9649103	104187132	37026299	108	6758										
COL27A1	85301	genome.wustl.edu	37	chr9	117052563	117052563	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agacagggcctcgagggcatCgctggaccagatgggcttcc	15	12	0	2	rs201732921		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:117052563C>T	ENST00000356083.3	+	47	4711	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1440	Collagen-like 13.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCGAGGGCATCGCTGGACCAG	0.637													C|||	1	0.000199681	0	0	5008	,	,		12870	0		0.001	False		,,,				2504	0																0								C		0,4384		0,0,2192	28	23	25		4320	-0.9	0	9		25	1,8573		0,1,4286	no	coding-synonymous	COL27A1	NM_032888.2		0,1,6478	TT,TC,CC		0.0117,0.0,0.0077		1440/1861	117052563	1,12957	2192	4287	6479	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4320C>T	9.37:g.117052563C>T			Q66K43|Q96JF7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.I1440	ENST00000356083.3	37	c.4320	CCDS6802.1	9																																																																																			COL27A1	-	NULL		0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		117052563	1	no_errors	ENST00000356083	ensembl	human	known	70_37	silent	SNP	0.018	T	T	117052563	C	T	117052563	2	4	50	1	0	0	0	0	0	0	0	1	3690	874	31	1		1	COL27A1	9	117052563	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	12865431	117052563	24160868	109	6759										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123169326	123169326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaggggcacctcagggatggAcacggcttggacagccagag	16	10	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:123169326A>G	ENST00000349780.4	-	32	5106	c.4927T>C	c.(4927-4929)Tcc>Ccc	p.S1643P	CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1611P|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1602P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1643					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGGGATGGACACGGCTTGG	0.597																																																	0													103	74	84					9																	123169326		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4927T>C	9.37:g.123169326A>G	ENSP00000343818:p.Ser1643Pro		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.S1643P	ENST00000349780.4	37	c.4927	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364277	0.24684	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.26067	3.74;3.66;3.74;2.07;1.76	4.72	-5.62	0.02481	.	1.451810	0.04225	N	0.334159	T	0.15825	0.0381	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.001;0.004	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.19745	-1.0296	10	0.34782	T	0.22	.	2.3685	0.04324	0.3123:0.4028:0.1656:0.1193	.	653;1611;1643;1037	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	P	1611;1602;1643;1037;653;1415	ENSP00000354065:S1611P;ENSP00000352258:S1602P;ENSP00000343818:S1643P;ENSP00000400395:S1037P;ENSP00000409941:S653P	ENSP00000341695:S1415P	S	-	1	0	CDK5RAP2	122209147	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.467000	0.06664	-1.062000	0.03181	-0.331000	0.08364	TCC	CDK5RAP2	-	NULL		0.597	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	A	NM_018249		123169326	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.000	G	G	123169326	A	G	123169326	3	3	50	1	0	0	0	0	1	0	0	0	3151	275	10	5	782	5	CDK5RAP2	9	123169326	Missense_Mutation	SNP	A	TCGA-C5-A7UH-01A-11D-A351-09	6116763	123169326	18044105	110	6760										
ZBTB6	10773	genome.wustl.edu	37	chr9	125673645	125673645	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgaagaggtacaaggctgtGaaaactgcccattttcgaca	10	8	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:125673645G>A	ENST00000373659.3	-	2	795	c.707C>T	c.(706-708)tCa>tTa	p.S236L		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ACAAGGCTGTGAAAACTGCCC	0.413																																																	0													69	66	67					9																	125673645		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.707C>T	9.37:g.125673645G>A	ENSP00000362763:p.Ser236Leu		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S236L	ENST00000373659.3	37	c.707	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	G	8.862	0.947166	0.18356	.	.	ENSG00000186130	ENST00000373659	T	0.09073	3.02	6.17	6.17	0.99709	.	0.828607	0.10999	N	0.610733	T	0.12347	0.0300	L	0.43152	1.355	0.34204	D	0.673496	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	10	0.33141	T	0.24	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	236	Q15916	ZBTB6_HUMAN	L	236	ENSP00000362763:S236L	ENSP00000362763:S236L	S	-	2	0	ZBTB6	124713466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.565000	0.73974	2.941000	0.99782	0.655000	0.94253	TCA	ZBTB6	-	NULL		0.413	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	G	NM_006626		125673645	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	missense	SNP	0.999	A	A	125673645	G	A	125673645	3	1	50	1	0	0	0	0	1	0	0	0	17582	1294	45	1	571	1	ZBTB6	9	125673645	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2504319	125673645	15539786	111	6761										
MAPKAP1	79109	genome.wustl.edu	37	chr9	128206818	128206818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gacggtagcagcgtccgattCaaagtagaggtgtttatagt	13	6	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:128206818C>T	ENST00000373498.1	-	10	1473	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E469K|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E422K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E277K|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.E182K|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E433K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E277K			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	469	Interaction with ATF2.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GCGTCCGATTCAAAGTAGAGG	0.453																																																	0													185	163	171					9																	128206818		2203	4300	6503	SO:0001583	missense	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1405G>A	9.37:g.128206818C>T	ENSP00000362597:p.Glu469Lys		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.E469K	ENST00000373498.1	37	c.1405	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.572709	0.96553	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.79108	0.992;0.947;0.941;0.989	D	0.83944	0.0313	9	0.72032	D	0.01	-17.0898	20.2985	0.98592	0.0:1.0:0.0:0.0	.	182;422;433;469	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	K	422;433;277;469;469;277;182;241	.	ENSP00000265960:E469K	E	-	1	0	MAPKAP1	127246639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.432000	0.66514	2.793000	0.96121	0.655000	0.94253	GAA	MAPKAP1	-	pfam_SIN1		0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	C			128206818	-1	no_errors	ENST00000265960	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128206818	C	T	128206818	3	4	50	1	0	0	0	0	1	0	0	0	9311	835	29	1	171	1	MAPKAP1	9	128206818	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2533173	128206818	13006613	112	6762										
RALGPS1	9649	genome.wustl.edu	37	chr9	129728136	129728136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccacagggcagcagcagctCggactctctggagggccaga	14	13	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:129728136C>T	ENST00000259351.5	+	3	338	c.71C>T	c.(70-72)tCg>tTg	p.S24L	RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	24	Poly-Ser.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGCAGCAGCTCGGACTCTCTG	0.532																																																	0													84	81	82					9																	129728136		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.71C>T	9.37:g.129728136C>T	ENSP00000259351:p.Ser24Leu		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.S24L	ENST00000259351.5	37	c.71	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778406	0.70107	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.55	5.55	0.83447	Ras guanine nucleotide exchange factor, domain (1);	0.410909	0.21739	N	0.069846	T	0.43366	0.1244	L	0.55481	1.735	0.54753	D	0.999987	D;D;D;D	0.67145	0.985;0.996;0.991;0.957	B;P;P;B	0.51945	0.265;0.685;0.452;0.17	T	0.15636	-1.0430	10	0.40728	T	0.16	.	18.2758	0.90083	0.0:1.0:0.0:0.0	.	24;24;24;24	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	24	ENSP00000259351:S24L;ENSP00000415630:S24L;ENSP00000377590:S24L;ENSP00000377579:S24L;ENSP00000317149:S24L;ENSP00000362535:S24L;ENSP00000362533:S24L	ENSP00000259351:S24L	S	+	2	0	RALGPS1	128767957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.093000	0.64517	2.607000	0.88179	0.561000	0.74099	TCG	RALGPS1	-	superfamily_Ras_GEF_dom		0.532	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	C	NM_014636		129728136	1	no_errors	ENST00000259351	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129728136	C	T	129728136	3	4	50	1	0	0	0	0	1	0	0	0	13047	893	31	1	77	1	RALGPS1	9	129728136	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	1521318	129728136	11485295	113	6763										
C9orf78	51759	genome.wustl.edu	37	chr9	132597032	132597032	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gttctgtacctctctggtctCttccagttttaatctttaaa	5	10	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:132597032C>T	ENST00000372447.3	-	2	150	c.97G>A	c.(97-99)Gag>Aag	p.E33K	C9orf78_ENST00000461762.1_5'Flank|USP20_ENST00000358355.1_5'Flank|USP20_ENST00000315480.4_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	33						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCTCTGGTCTCTTCCAGTTTT	0.537																																																	0													131	122	125					9																	132597032		2203	4300	6503	SO:0001583	missense	51759			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 59"					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.97G>A	9.37:g.132597032C>T	ENSP00000361524:p.Glu33Lys		B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	pfam_Hep_59	p.E33K	ENST00000372447.3	37	c.97	CCDS6931.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.663022	0.96745	.	.	ENSG00000136819	ENST00000372447	T	0.52057	0.68	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.83012	2.62	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	T	0.68379	-0.5424	10	0.48119	T	0.1	.	17.6231	0.88087	0.0:1.0:0.0:0.0	.	33	Q9NZ63	CI078_HUMAN	K	33	ENSP00000361524:E33K	ENSP00000361524:E33K	E	-	1	0	C9orf78	131636853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.361000	0.73070	2.644000	0.89710	0.491000	0.48974	GAG	C9orf78	-	NULL		0.537	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1	C	NM_016520		132597032	-1	no_errors	ENST00000372447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132597032	C	T	132597032	3	4	50	1	0	0	0	0	1	0	0	0	2501	922	32	1	804	1	C9orf78	9	132597032	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2868896	132597032	8616399	114	6764										
BAT2L1	84726	genome.wustl.edu	37	chr9	134322565	134322565	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgaacctcgagttccttttAgacagttccagatgaatgac	8	9	0	5			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:134322565A>T	ENST00000357304.4	+	7	1004	c.949A>T	c.(949-951)Aga>Tga	p.R317*	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.R317*|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.R317*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	317							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGTTCCTTTTAGACAGTTCCA	0.507																																																	0													101	96	98					9																	134322565		1987	4174	6161	SO:0001587	stop_gained	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.949A>T	9.37:g.134322565A>T	ENSP00000349856:p.Arg317*		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	pfam_BAT2_N	p.R317*	ENST00000357304.4	37	c.949	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	A	37	6.507415	0.97624	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	.	.	.	5.54	3.09	0.35607	.	0.000000	0.45606	U	0.000345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-11.8453	12.0345	0.53417	0.5761:0.4239:0.0:0.0	.	.	.	.	X	317	.	ENSP00000349856:R317X	R	+	1	2	PRRC2B	133312386	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.278000	0.43426	0.426000	0.26116	0.460000	0.39030	AGA	PRRC2B	-	NULL		0.507	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		A			134322565	1	no_errors	ENST00000357304	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	134322565	A	T	134322565	4	4	50	1	0	0	0	0	0	1	0	0	1321	412	15	5	975	5	BAT2L1	9	134322565	Nonsense_Mutation	SNP	A	TCGA-C5-A7UH-01A-11D-A351-09	1725533	134322565	6890866	115	6765										
CDC123	8872	genome.wustl.edu	37	chr10	12257792	12257792	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	caggaagctatcaattccctCgggggcagtgtctttcctaa	10	11	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:12257792C>T	ENST00000281141.4	+	5	571	c.291C>T	c.(289-291)ctC>ctT	p.L97L	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Silent_p.L97L	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	97					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TCAATTCCCTCGGGGGCAGTG	0.413																																																	0													94	92	93					10																	12257792		2203	4300	6503	SO:0001819	synonymous_variant	8872			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 7", "cell division cycle 123 homolog (S. cerevisiae)"	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.291C>T	10.37:g.12257792C>T			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Silent	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.L97	ENST00000281141.4	37	c.291	CCDS7090.1	10																																																																																			CDC123	-	pfam_D123,pirsf_Cell_div_Cdc123		0.413	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	C	NM_006023		12257792	1	no_errors	ENST00000281141	ensembl	human	known	70_37	silent	SNP	0.998	T	T	12257792	C	T	12257792	2	4	50	1	0	0	0	0	0	0	0	1	3060	871	31	1		1	CDC123	10	12257792	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		12257792	123276955	116	6766										
CUBN	8029	genome.wustl.edu	37	chr10	16960771	16960771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgcatccgaatccactccatCccgcaactcaaggtagttgg	8	14	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:16960771C>T	ENST00000377833.4	-	45	6915	c.6850G>A	c.(6850-6852)Gat>Aat	p.D2284N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2284	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCACTCCATCCCGCAACTCA	0.413																																																	0													71	60	64					10																	16960771		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6850G>A	10.37:g.16960771C>T	ENSP00000367064:p.Asp2284Asn		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.D2284N	ENST00000377833.4	37	c.6850	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103614	0.37145	.	.	ENSG00000107611	ENST00000377833	T	0.43294	0.95	5.6	4.69	0.59074	CUB (5);	0.143324	0.32081	N	0.006605	T	0.37210	0.0995	L	0.46885	1.475	0.80722	D	1	B	0.27286	0.174	B	0.29716	0.106	T	0.17349	-1.0372	10	0.38643	T	0.18	.	12.0977	0.53765	0.0:0.8624:0.0:0.1376	.	2284	O60494	CUBN_HUMAN	N	2284	ENSP00000367064:D2284N	ENSP00000367064:D2284N	D	-	1	0	CUBN	17000777	0.816000	0.29132	0.967000	0.41034	0.310000	0.27922	1.665000	0.37449	2.627000	0.88993	0.650000	0.86243	GAT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16960771	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.989	T	T	16960771	C	T	16960771	3	4	50	1	0	0	0	0	1	0	0	0	4056	855	30	1	4113	1	CUBN	10	16960771	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	4702979	16960771	118573976	117	6767										
SNCG	6623	genome.wustl.edu	37	chr10	88719858	88719858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtggaggaggcggagaacatCgcggtcacctccggggtggt	19	9	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:88719858C>T	ENST00000372017.3	+	3	306	c.264C>T	c.(262-264)atC>atT	p.I88I	SNCG_ENST00000348795.4_Missense_Mutation_p.R106C|SNCG_ENST00000483064.1_3'UTR|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	88					adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CGGAGAACATCGCGGTCACCT	0.677																																																	0													95	80	85					10																	88719858		2203	4300	6503	SO:0001819	synonymous_variant	6623			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.264C>T	10.37:g.88719858C>T			O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein	p.R106C	ENST00000372017.3	37	c.316	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583600	0.13749	.	.	ENSG00000173267	ENST00000348795	D	0.88896	-2.44	4.69	-5.13	0.02884	.	.	.	.	.	D	0.87083	0.6089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81158	-0.1060	6	0.87932	D	0	4.6376	4.4262	0.11503	0.102:0.2545:0.101:0.5425	.	.	.	.	C	106	ENSP00000344658:R106C	ENSP00000344658:R106C	R	+	1	0	SNCG	88709838	0.000000	0.05858	0.007000	0.13788	0.390000	0.30446	-1.811000	0.01728	-0.983000	0.03511	0.561000	0.74099	CGC	SNCG	-	NULL		0.677	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	C			88719858	1	no_errors	ENST00000348795	ensembl	human	known	70_37	missense	SNP	0.002	T	T	88719858	C	T	88719858	2	4	50	1	0	0	0	0	0	0	0	1	14873	874	31	1		1	SNCG	10	88719858	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	71759087	88719858	46814889	118	6768										
KIF20B	9585	genome.wustl.edu	37	chr10	91533786	91533786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gattatcaaacgacgacttcGaacaaaaacagccaaataaa	5	9	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:91533786G>A	ENST00000371728.3	+	33	5509	c.5444G>A	c.(5443-5445)cGa>cAa	p.R1815Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.R1775Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.R1845Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1815	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.R1775Q(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CGACGACTTCGAACAAAAACA	0.284																																																	1	Substitution - Missense(1)	large_intestine(1)											49	53	52					10																	91533786		2203	4292	6495	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5444G>A	10.37:g.91533786G>A	ENSP00000360793:p.Arg1815Gln		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1845Q	ENST00000371728.3	37	c.5534		10	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085165	0.55861	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.59224	0.28;0.28;0.28	6.03	3.2	0.36748	.	0.198132	0.25178	N	0.032545	T	0.69833	0.3155	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.74348	0.978;0.983	T	0.68743	-0.5328	10	0.87932	D	0	-4.7534	8.4725	0.32993	0.24:0.0:0.76:0.0	.	1815;1775	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	1775;1845;1815	ENSP00000260753:R1775Q;ENSP00000411545:R1845Q;ENSP00000360793:R1815Q	ENSP00000260753:R1775Q	R	+	2	0	KIF20B	91523766	1.000000	0.71417	0.827000	0.32855	0.328000	0.28507	3.601000	0.54059	0.449000	0.26747	-0.140000	0.14226	CGA	KIF20B	-	NULL		0.284	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91533786	1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.851	A	A	91533786	G	A	91533786	3	1	50	1	0	0	0	0	1	0	0	0	8307	1058	37	1	5450	1	KIF20B	10	91533786	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2813928	91533786	44000961	119	6769										
BTAF1	9044	genome.wustl.edu	37	chr10	93699793	93699793	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctatagtgaaaaatgtacctGagtggaatccagtgccgaga	11	7	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:93699793G>A	ENST00000265990.6	+	3	531	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	75					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAATGTACCTGAGTGGAATCC	0.353																																																	0													64	66	65					10																	93699793		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.223G>A	10.37:g.93699793G>A	ENSP00000265990:p.Glu75Lys		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E75K	ENST00000265990.6	37	c.223	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230529	0.58777	.	.	ENSG00000095564	ENST00000265990	D	0.89617	-2.54	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.057616	0.64402	D	0.000002	T	0.81527	0.4841	N	0.21142	0.635	0.80722	D	1	B	0.21309	0.054	B	0.20767	0.031	T	0.76397	-0.2974	10	0.06494	T	0.89	-1.8506	19.2123	0.93760	0.0:0.0:1.0:0.0	.	75	O14981	BTAF1_HUMAN	K	75	ENSP00000265990:E75K	ENSP00000265990:E75K	E	+	1	0	BTAF1	93689773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.682000	0.98655	2.552000	0.86080	0.655000	0.94253	GAG	BTAF1	-	superfamily_ARM-type_fold		0.353	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	G	NM_003972		93699793	1	no_errors	ENST00000265990	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93699793	G	A	93699793	3	1	50	1	0	0	0	0	1	0	0	0	1539	1291	45	1	233	1	BTAF1	10	93699793	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2166007	93699793	41834954	120	6770										
DNMBP	23268	genome.wustl.edu	37	chr10	101637012	101637012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tcctgtaacatctttaaactCgaggatcttgagtttctgat	7	8	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:101637012C>T	ENST00000324109.4	-	17	4721	c.4630G>A	c.(4630-4632)Gag>Aag	p.E1544K	DNMBP_ENST00000540316.1_Missense_Mutation_p.E480K|DNMBP_ENST00000342239.3_Missense_Mutation_p.E1568K|DNMBP_ENST00000543621.1_Missense_Mutation_p.E790K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1544	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTTAAACTCGAGGATCTTG	0.468																																																	0													202	184	190					10																	101637012		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4630G>A	10.37:g.101637012C>T	ENSP00000315659:p.Glu1544Lys		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.E1568K	ENST00000324109.4	37	c.4702	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504461	0.85176	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.29	5.29	0.74685	Src homology-3 domain (4);	0.136830	0.33290	N	0.005068	T	0.67878	0.2940	L	0.39566	1.225	0.47511	D	0.999446	P;P;D	0.55800	0.953;0.884;0.973	P;B;P	0.52109	0.542;0.165;0.69	T	0.69296	-0.5182	10	0.49607	T	0.09	-6.3636	14.8643	0.70404	0.0:0.8139:0.1861:0.0	.	1544;790;1568	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1568;1544;790;790;480	ENSP00000344914:E1568K;ENSP00000315659:E1544K;ENSP00000443657:E790K;ENSP00000443573:E480K	ENSP00000315659:E1544K	E	-	1	0	DNMBP	101627002	0.999000	0.42202	0.996000	0.52242	0.994000	0.84299	3.995000	0.57001	2.464000	0.83262	0.491000	0.48974	GAG	DNMBP	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.468	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	C	NM_015221		101637012	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101637012	C	T	101637012	3	4	50	1	0	0	0	0	1	0	0	0	4684	893	31	1	107	1	DNMBP	10	101637012	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	7937219	101637012	33897735	121	6771										
FBXW4	6468	genome.wustl.edu	37	chr10	103427677	103427677	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gatagcaatggaccagactcGgtcttcagtctggatggtgt	13	8	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:103427677G>A	ENST00000331272.7	-	5	1354	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	246					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.D245fs*14(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GACCAGACTCGGTCTTCAGTC	0.488																																																	1	Deletion - Frameshift(1)	breast(1)											135	133	133					10																	103427677		2203	4300	6503	SO:0001587	stop_gained	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.736C>T	10.37:g.103427677G>A	ENSP00000359149:p.Arg246*		Q5SVS1|Q96IM6	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R246*	ENST00000331272.7	37	c.736	CCDS31271.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987818	0.74589	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	.	.	.	5.75	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5024	15.5262	0.75910	0.0:0.0:0.7491:0.2509	.	.	.	.	X	246;246;159;202	.	ENSP00000359149:R246X	R	-	1	2	FBXW4	103417667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.007000	0.49536	0.854000	0.35336	0.650000	0.86243	CGA	FBXW4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.488	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	G	NM_022039		103427677	-1	no_errors	ENST00000331272	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	103427677	G	A	103427677	4	1	50	1	0	0	0	0	0	1	0	0	5785	1124	39	2	522	2	FBXW4	10	103427677	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1790665	103427677	32107070	122	6772										
SORCS1	114815	genome.wustl.edu	37	chr10	108427547	108427547	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctggccattgctgtgtcgctCataaccatagtcgctgttag	10	11	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:108427547C>G	ENST00000263054.6	-	17	2210	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.E270Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.E735Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	735					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E735*(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTGTCGCTCATAACCATAG	0.463																																																	2	Substitution - Nonsense(2)	lung(2)											64	58	60					10																	108427547		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2203G>C	10.37:g.108427547C>G	ENSP00000263054:p.Glu735Gln		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.E735Q	ENST00000263054.6	37	c.2203	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587858	0.86851	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.26373	1.74;2.3;2.3	5.49	5.49	0.81192	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.67397	2.05	0.58432	D	0.999993	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.997;0.998	D;D;D;D;D	0.72075	0.947;0.976;0.976;0.947;0.976	T	0.39781	-0.9597	9	.	.	.	-30.9669	19.7394	0.96219	0.0:1.0:0.0:0.0	.	735;735;735;735;735	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	270;735;735	ENSP00000358712:E270Q;ENSP00000263054:E735Q;ENSP00000345964:E735Q	.	E	-	1	0	SORCS1	108417537	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.409000	0.80053	2.745000	0.94114	0.462000	0.41574	GAG	SORCS1	-	smart_VPS10		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	C	NM_052918		108427547	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108427547	C	G	108427547	3	3	50	1	0	0	0	0	1	0	0	0	14960	835	29	1	1577	1	SORCS1	10	108427547	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	4999870	108427547	27107200	123	6773										
ADD3	120	genome.wustl.edu	37	chr10	111877134	111877134	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggagcaagaccacattataaTaattcccagaggcctatctt	7	10	1	2	rs370426959		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:111877134T>A	ENST00000356080.4	+	5	888	c.521T>A	c.(520-522)aTa>aAa	p.I174K	ADD3_ENST00000277900.8_Missense_Mutation_p.I174K|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.I174K	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	174						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CACATTATAATAATTCCCAGA	0.363																																																	0													85	85	85					10																	111877134		2203	4300	6503	SO:0001583	missense	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.521T>A	10.37:g.111877134T>A	ENSP00000348381:p.Ile174Lys		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.I174K	ENST00000356080.4	37	c.521	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	T	33	5.233355	0.95207	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.34072	1.38;1.38;1.38	5.8	5.8	0.92144	Class II aldolase/adducin, N-terminal (3);	0.041672	0.85682	D	0.000000	T	0.72771	0.3502	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.82466	-0.0443	10	0.87932	D	0	-14.999	16.1596	0.81693	0.0:0.0:0.0:1.0	.	174;174	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	K	174	ENSP00000353286:I174K;ENSP00000348381:I174K;ENSP00000277900:I174K	ENSP00000277900:I174K	I	+	2	0	ADD3	111867124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.819000	0.86621	2.216000	0.71823	0.533000	0.62120	ATA	ADD3	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.363	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	T	NM_019903		111877134	1	no_errors	ENST00000356080	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111877134	T	A	111877134	3	1	50	1	0	0	0	0	1	0	0	0	306	1406	49	5	535	5	ADD3	10	111877134	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	3449587	111877134	23657613	124	6774										
TDRD1	56165	genome.wustl.edu	37	chr10	115947636	115947636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgatgtcaagaaataatttgGaagcacctccttgtaagatg	9	6	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:115947636G>A	ENST00000369280.1	+	2	506	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TDRD1_ENST00000369281.2_Missense_Mutation_p.E16K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E16K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Missense_Mutation_p.E16K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	16					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAATAATTTGGAAGCACCTCC	0.343																																																	0													114	124	121					10																	115947636		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.46G>A	10.37:g.115947636G>A	ENSP00000358286:p.Glu16Lys		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.E16K	ENST00000369280.1	37	c.46		10	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065317	0.55432	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.58	4.67	0.58626	.	0.398265	0.23987	N	0.042616	T	0.37073	0.0990	L	0.32530	0.975	0.80722	D	1	P;P;P;P	0.49559	0.793;0.877;0.869;0.925	B;B;P;B	0.45276	0.283;0.339;0.475;0.443	T	0.23368	-1.0190	10	0.62326	D	0.03	-19.6238	12.3681	0.55240	0.0:0.1697:0.8303:0.0	.	16;16;16;16	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	K	16	ENSP00000358288:E16K;ENSP00000251864:E16K;ENSP00000358287:E16K;ENSP00000358286:E16K	ENSP00000251864:E16K	E	+	1	0	TDRD1	115937626	0.988000	0.35896	0.880000	0.34516	0.371000	0.29859	3.176000	0.50863	1.336000	0.45506	0.563000	0.77884	GAA	TDRD1	-	NULL		0.343	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115947636	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.986	A	A	115947636	G	A	115947636	3	1	50	1	0	0	0	0	1	0	0	0	15760	1175	41	1	48	1	TDRD1	10	115947636	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	4070502	115947636	19587111	125	6775										
FAM45A	404636	genome.wustl.edu	37	chr10	120871374	120871374	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgaacaggtgactcatttttCtattgtcctgaccgccaaag	8	10	2	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:120871374C>G	ENST00000361432.2	+	3	292	c.266C>G	c.(265-267)tCt>tGt	p.S89C	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.S89C	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	89										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACTCATTTTTCTATTGTCCTG	0.294																																																	0													136	135	136					10																	120871374		2203	4299	6502	SO:0001583	missense	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.266C>G	10.37:g.120871374C>G	ENSP00000354688:p.Ser89Cys		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	pfam_Secretory_pathway_prot_Avl9	p.S89C	ENST00000361432.2	37	c.266	CCDS7609.1	10	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382889	0.82792	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.987	T	0.80134	-0.1509	9	0.87932	D	0	.	17.196	0.86892	0.0:1.0:0.0:0.0	.	16;81;89	B4DNL9;Q8TCE6-2;Q8TCE6	.;.;FA45A_HUMAN	C	89	.	ENSP00000354688:S89C	S	+	2	0	FAM45A	120861364	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.725000	0.74752	2.570000	0.86706	0.563000	0.77884	TCT	FAM45A	-	NULL		0.294	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1	C	NM_207009		120871374	1	no_errors	ENST00000361432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120871374	C	G	120871374	3	3	50	1	0	0	0	0	1	0	0	0	5582	913	32	1	276	1	FAM45A	10	120871374	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	4923738	120871374	14663373	126	6776										
SMPD1	6609	genome.wustl.edu	37	chr11	6412643	6412643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aatgtggctcgcgtgggctcCgtggccatcaagctgtgcaa	14	11	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:6412643C>T	ENST00000342245.4	+	2	516	c.348C>T	c.(346-348)tcC>tcT	p.S116S	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Silent_p.S116S|SMPD1_ENST00000527275.1_Silent_p.S115S|SMPD1_ENST00000356761.2_Silent_p.S116S	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	114	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GCGTGGGCTCCGTGGCCATCA	0.582																																																	0													69	56	60					11																	6412643		2201	4296	6497	SO:0001819	synonymous_variant	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.348C>T	11.37:g.6412643C>T			A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.S116	ENST00000342245.4	37	c.348	CCDS44531.1	11																																																																																			SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB		0.582	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6412643	1	no_errors	ENST00000342245	ensembl	human	known	70_37	silent	SNP	0.000	T	T	6412643	C	T	6412643	2	4	50	1	0	0	0	0	0	0	0	1	14834	639	23	2		2	SMPD1	11	6412643	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		6412643	128593873	127	6777										
TMEM41B	440026	genome.wustl.edu	37	chr11	9335975	9335975	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	actgcgatcgttcggcgactCtgcctttcgccatggctgct	11	14	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:9335975C>G	ENST00000528080.1	-	1	352	c.14G>C	c.(13-15)aGa>aCa	p.R5T	TMEM41B_ENST00000533723.1_Missense_Mutation_p.R5T|TMEM41B_ENST00000527813.1_Missense_Mutation_p.R5T	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	5					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCGGCGACTCTGCCTTTCGC	0.677																																																	0													30	22	25					11																	9335975		2171	4242	6413	SO:0001583	missense	440026			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.14G>C	11.37:g.9335975C>G	ENSP00000433126:p.Arg5Thr		D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	pfam_SNARE_assoc	p.R5T	ENST00000528080.1	37	c.14	CCDS31424.1	11	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941713	0.34283	.	.	ENSG00000166471	ENST00000299596;ENST00000528080;ENST00000527813;ENST00000533723	.	.	.	3.98	3.05	0.35203	.	0.122077	0.53938	D	0.000050	T	0.36963	0.0986	L	0.41236	1.265	0.30578	N	0.762814	B	0.06786	0.001	B	0.04013	0.001	T	0.43310	-0.9399	9	0.66056	D	0.02	-7.282	9.7	0.40180	0.0:0.7887:0.2113:0.0	.	5	Q5BJD5	TM41B_HUMAN	T	5	.	ENSP00000299596:R5T	R	-	2	0	TMEM41B	9292551	0.960000	0.32886	0.992000	0.48379	0.279000	0.26890	2.933000	0.48948	1.234000	0.43709	0.484000	0.47621	AGA	TMEM41B	-	NULL		0.677	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	HGNC	protein_coding	OTTHUMT00000385940.2	C			9335975	-1	no_errors	ENST00000299596	ensembl	human	known	70_37	missense	SNP	0.993	G	G	9335975	C	G	9335975	3	3	50	1	0	0	0	0	1	0	0	0	16195	913	32	1	905	1	TMEM41B	11	9335975	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2923332	9335975	125670541	128	6778										
SERGEF	26297	genome.wustl.edu	37	chr11	17899778	17899778	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttattgccaaattatgctctGagccacaagagacctgtaaa	7	9	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:17899778G>C	ENST00000265965.5	-	10	1176	c.1025C>G	c.(1024-1026)tCa>tGa	p.S342*	SERGEF_ENST00000528200.1_Silent_p.L286L|SERGEF_ENST00000532265.1_Silent_p.L172L	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	342					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						ATTATGCTCTGAGCCACAAGA	0.299																																																	0													31	32	32					11																	17899778		2199	4293	6492	SO:0001587	stop_gained	26297			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.1025C>G	11.37:g.17899778G>C	ENSP00000265965:p.Ser342*		Q9UGK9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S342*	ENST00000265965.5	37	c.1025	CCDS7828.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.817517|3.817517	0.70912|0.70912	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000529151|ENST00000265965	.|.	.|.	.|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56232|.	0.1971|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44832|.	-0.9302|.	4|.	.|0.19147	.|T	.|0.46	-8.2698|-8.2698	12.946|12.946	0.58373|0.58373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	206|342	.|.	.|ENSP00000265965:S342X	Q|S	-|-	1|2	0|0	SERGEF|SERGEF	17856354|17856354	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.492000|4.492000	0.60334|0.60334	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SERGEF	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.299	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERGEF	HGNC	protein_coding	OTTHUMT00000389538.1	G	NM_012139		17899778	-1	no_errors	ENST00000265965	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	17899778	G	C	17899778	4	2	50	1	0	0	0	0	0	1	0	0	14107	1294	45	1	359	1	SERGEF	11	17899778	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	8563803	17899778	117106738	129	6779										
HPS5	11234	genome.wustl.edu	37	chr11	18319183	18319183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	taagatcaattcttccagttGagaaattagatcattgtagg	8	5	3	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:18319183G>C	ENST00000349215.3	-	11	1523	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E	HPS5_ENST00000396253.3_Missense_Mutation_p.Q302E|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Missense_Mutation_p.Q302E|HPS5_ENST00000531848.1_Missense_Mutation_p.Q302E	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	416					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTTCCAGTTGAGAAATTAGA	0.368									Hermansky-Pudlak syndrome																																								0													98	96	97					11																	18319183		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1246C>G	11.37:g.18319183G>C	ENSP00000265967:p.Gln416Glu		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.Q416E	ENST00000349215.3	37	c.1246	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969948	0.34754	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.56941	0.43;0.43;0.44;1.49	5.23	5.23	0.72850	.	0.053443	0.85682	D	0.000000	T	0.65312	0.2679	M	0.66939	2.045	0.58432	D	0.999999	D	0.56746	0.977	P	0.54140	0.743	T	0.65138	-0.6241	10	0.39692	T	0.17	.	18.7899	0.91969	0.0:0.0:1.0:0.0	.	416	Q9UPZ3	HPS5_HUMAN	E	302;302;416;302	ENSP00000379552:Q302E;ENSP00000399590:Q302E;ENSP00000265967:Q416E;ENSP00000431758:Q302E	ENSP00000265967:Q416E	Q	-	1	0	HPS5	18275759	1.000000	0.71417	0.999000	0.59377	0.073000	0.16967	7.455000	0.80726	2.455000	0.83008	0.462000	0.41574	CAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.368	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	G	NM_181507		18319183	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18319183	G	C	18319183	3	2	50	1	0	0	0	0	1	0	0	0	7362	1299	45	1	2195	1	HPS5	11	18319183	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	419405	18319183	116687333	130	6780										
LDHC	3948	genome.wustl.edu	37	chr11	18467785	18467785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaattatcaagctgaaggggTatacctcttgggctattgga	11	6	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:18467785T>C	ENST00000541669.1	+	7	850	c.739T>C	c.(739-741)Tat>Cat	p.Y247H	LDHC_ENST00000544105.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.Y233H|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.Y247H			P07864	LDHC_HUMAN	lactate dehydrogenase C	247					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAAGGGGTATACCTCTTG	0.383																																																	0													180	178	179					11																	18467785		2199	4293	6492	SO:0001583	missense	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.739T>C	11.37:g.18467785T>C	ENSP00000437783:p.Tyr247His		D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.Y247H	ENST00000541669.1	37	c.739	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195347	0.78902	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880	T;T;T	0.67345	-0.26;-0.26;-0.26	4.78	4.78	0.61160	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.85000	0.0899	10	0.66056	D	0.02	-14.9734	11.9271	0.52825	0.0:0.0:0.0:1.0	.	247	P07864	LDHC_HUMAN	H	247;247;233	ENSP00000437783:Y247H;ENSP00000280704:Y247H;ENSP00000439555:Y233H	ENSP00000280704:Y247H	Y	+	1	0	LDHC	18424361	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.134000	0.77268	2.003000	0.58678	0.397000	0.26171	TAT	LDHC	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	T	NM_017448		18467785	1	no_errors	ENST00000280704	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18467785	T	C	18467785	3	2	50	1	0	0	0	0	1	0	0	0	8722	1638	57	5	761	5	LDHC	11	18467785	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	148602	18467785	116538731	131	6781										
PCNXL3	399909	genome.wustl.edu	37	chr11	65383829	65383829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcgccagggggtgtgggcctCgctcaccggcggttggttct	18	12	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:65383829C>T	ENST00000355703.3	+	1	586	c.47C>T	c.(46-48)tCg>tTg	p.S16L	MAP3K11_ENST00000309100.3_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	16						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTGTGGGCCTCGCTCACCGGC	0.667																																																	0													19	27	24					11																	65383829		2071	4169	6240	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.47C>T	11.37:g.65383829C>T	ENSP00000347931:p.Ser16Leu		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.S16L	ENST00000355703.3	37	c.47	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.276656	0.95459	.	.	ENSG00000197136	ENST00000355703	T	0.61742	0.08	4.11	4.11	0.48088	.	0.000000	0.27323	U	0.019900	T	0.61009	0.2313	M	0.78916	2.43	0.39983	D	0.97494	D	0.57899	0.981	B	0.43508	0.422	T	0.72833	-0.4173	10	0.87932	D	0	.	14.6545	0.68823	0.0:1.0:0.0:0.0	.	16	Q9H6A9	PCX3_HUMAN	L	16	ENSP00000347931:S16L	ENSP00000347931:S16L	S	+	2	0	PCNXL3	65140405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.151000	0.77411	2.575000	0.86900	0.561000	0.74099	TCG	PCNXL3	-	NULL		0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65383829	1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65383829	C	T	65383829	3	4	50	1	0	0	0	0	1	0	0	0	11617	893	31	1	49	1	PCNXL3	11	65383829	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	46916044	65383829	69622687	132	6782										
NPAS4	266743	genome.wustl.edu	37	chr11	66191431	66191431	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tctttcccaggaagagtgctCcagcactaacccactcttca	6	15	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:66191431C>G	ENST00000311034.2	+	7	1246	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	357					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAAGAGTGCTCCAGCACTAAC	0.552																																																	0													149	154	152					11																	66191431		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1070C>G	11.37:g.66191431C>G	ENSP00000311196:p.Ser357Cys		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S357C	ENST00000311034.2	37	c.1070	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017515	0.54576	.	.	ENSG00000174576	ENST00000311034	T	0.51574	0.7	4.01	4.01	0.46588	.	0.265758	0.27349	N	0.019765	T	0.35307	0.0927	L	0.27053	0.805	0.47276	D	0.999374	P	0.52170	0.951	B	0.40901	0.343	T	0.39231	-0.9624	10	0.66056	D	0.02	-9.3246	13.673	0.62436	0.0:1.0:0.0:0.0	.	357	Q8IUM7	NPAS4_HUMAN	C	357	ENSP00000311196:S357C	ENSP00000311196:S357C	S	+	2	0	NPAS4	65948007	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.508000	0.67006	2.070000	0.61991	0.563000	0.77884	TCC	NPAS4	-	NULL		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	C	NM_178864		66191431	1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66191431	C	G	66191431	3	3	50	1	0	0	0	0	1	0	0	0	10589	855	30	1	1096	1	NPAS4	11	66191431	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	807602	66191431	68815085	133	6783										
RBM14	10432	genome.wustl.edu	37	chr11	66392285	66392285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tggagcccagccctcagcctCggccctttcctcctatgggg	11	17	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:66392285C>T	ENST00000310137.4	+	2	1077	c.938C>T	c.(937-939)tCg>tTg	p.S313L	RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	313	Ala-rich.|TRBP-interacting domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCTCAGCCTCGGCCCTTTCC	0.617																																																	0													50	50	50					11																	66392285		2200	4295	6495	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.938C>T	11.37:g.66392285C>T	ENSP00000311747:p.Ser313Leu		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S313L	ENST00000310137.4	37	c.938	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846357	0.51164	.	.	ENSG00000239306	ENST00000310137	D	0.82081	-1.57	4.81	4.81	0.61882	.	0.331496	0.29362	N	0.012369	T	0.81992	0.4940	L	0.27053	0.805	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.81364	-0.0966	10	0.48119	T	0.1	-3.7294	8.9002	0.35490	0.0:0.9006:0.0:0.0994	.	313	Q96PK6	RBM14_HUMAN	L	313	ENSP00000311747:S313L	ENSP00000311747:S313L	S	+	2	0	RBM14	66148861	0.995000	0.38212	0.976000	0.42696	0.943000	0.58893	3.188000	0.50958	2.472000	0.83506	0.563000	0.77884	TCG	RBM14	-	NULL		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66392285	1	no_errors	ENST00000310137	ensembl	human	known	70_37	missense	SNP	0.984	T	T	66392285	C	T	66392285	3	4	50	1	0	0	0	0	1	0	0	0	13145	893	31	1	944	1	RBM14	11	66392285	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	200854	66392285	68614231	134	6784										
RBM14	10432	genome.wustl.edu	37	chr11	66392783	66392783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tagttacggggcccaagcatCaatgggcctttcaggctcct	11	12	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:66392783C>T	ENST00000310137.4	+	2	1575	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	479	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCCAAGCATCAATGGGCCTT	0.647																																																	0													71	79	77					11																	66392783		2200	4295	6495	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1436C>T	11.37:g.66392783C>T	ENSP00000311747:p.Ser479Leu		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S479L	ENST00000310137.4	37	c.1436	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250559	0.39797	.	.	ENSG00000239306	ENST00000310137	D	0.84223	-1.82	5.75	5.75	0.90469	.	0.212824	0.40385	N	0.001110	T	0.73705	0.3621	N	0.08118	0	0.80722	D	1	B	0.19331	0.035	B	0.17433	0.018	T	0.71217	-0.4658	10	0.87932	D	0	-4.3079	15.4418	0.75190	0.0:1.0:0.0:0.0	.	479	Q96PK6	RBM14_HUMAN	L	479	ENSP00000311747:S479L	ENSP00000311747:S479L	S	+	2	0	RBM14	66149359	0.928000	0.31464	0.997000	0.53966	0.957000	0.61999	3.629000	0.54266	2.720000	0.93068	0.655000	0.94253	TCA	RBM14	-	NULL		0.647	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66392783	1	no_errors	ENST00000310137	ensembl	human	known	70_37	missense	SNP	0.994	T	T	66392783	C	T	66392783	3	4	50	1	0	0	0	0	1	0	0	0	13145	838	29	1	1442	1	RBM14	11	66392783	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	498	66392783	68613733	135	6785										
SYTL2	54843	genome.wustl.edu	37	chr11	85422265	85422265	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgatgctgtatctgtttctCtgtcatcactctacaaaaca	5	11	5	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:85422265C>T	ENST00000528231.1	-	11	1998	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K	SYTL2_ENST00000529581.1_Missense_Mutation_p.R16K|SYTL2_ENST00000354566.3_Missense_Mutation_p.R912K|SYTL2_ENST00000525702.1_Missense_Mutation_p.R16K|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389958.3_Missense_Mutation_p.R5K|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000316356.4_Missense_Mutation_p.R575K|SYTL2_ENST00000527523.1_Missense_Mutation_p.R542K|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.R1420K|SYTL2_ENST00000525423.1_Missense_Mutation_p.R896K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	574					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCTGTTTCTCTGTCATCACT	0.403																																																	0													132	129	130					11																	85422265		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1721G>A	11.37:g.85422265C>T	ENSP00000431701:p.Arg574Lys		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1420K	ENST00000528231.1	37	c.4259	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.101242	0.94245	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000528231;ENST00000527523;ENST00000529534;ENST00000534414;ENST00000526999;ENST00000532221;ENST00000524911	T;T;T;T;T;T;T;T;T;T	0.38077	1.67;1.66;1.76;1.19;1.68;1.19;1.16;1.74;1.61;2.0	6.06	6.06	0.98353	.	0.213762	0.46442	D	0.000284	T	0.59797	0.2220	M	0.61703	1.905	0.58432	D	0.999999	D;D;D;P;D;P	0.76494	0.992;0.986;0.983;0.903;0.999;0.919	D;P;P;B;D;P	0.71184	0.918;0.844;0.899;0.37;0.972;0.633	T	0.51957	-0.8639	9	.	.	.	-23.997	20.6397	0.99537	0.0:1.0:0.0:0.0	.	542;574;575;896;912;5	Q9HCH5-14;Q9HCH5;Q9HCH5-13;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9	.;SYTL2_HUMAN;.;.;.;.	K	1420;912;575;16;896;16;5;574;542;16;69;16;16;16	ENSP00000352065:R1420K;ENSP00000346576:R912K;ENSP00000318803:R575K;ENSP00000432996:R16K;ENSP00000432694:R896K;ENSP00000435855:R16K;ENSP00000374608:R5K;ENSP00000431701:R574K;ENSP00000434010:R542K;ENSP00000432137:R16K	.	R	-	2	0	SYTL2	85099913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.096000	0.57734	2.880000	0.98712	0.650000	0.86243	AGA	SYTL2	-	NULL		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	C	NM_206927		85422265	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85422265	C	T	85422265	3	4	50	1	0	0	0	0	1	0	0	0	15513	913	32	1	1115	1	SYTL2	11	85422265	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	19029482	85422265	49584251	136	6786										
TMEM135	65084	genome.wustl.edu	37	chr11	87020555	87020555	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aatttcctctagggtttcatCagaatgtttagcgtggggta	11	6	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:87020555C>G	ENST00000305494.5	+	10	816	c.777C>G	c.(775-777)atC>atG	p.I259M	TMEM135_ENST00000535167.1_Missense_Mutation_p.I120M|TMEM135_ENST00000532959.1_Missense_Mutation_p.I130M|TMEM135_ENST00000340353.7_Missense_Mutation_p.I237M	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	259					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGTTTCATCAGAATGTTTA	0.383																																																	0													115	117	117					11																	87020555		2201	4299	6500	SO:0001583	missense	65084			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.777C>G	11.37:g.87020555C>G	ENSP00000306344:p.Ile259Met		Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	NULL	p.I259M	ENST00000305494.5	37	c.777	CCDS8280.1	11	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384348	0.61845	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.78	5.78	0.91487	.	0.094021	0.64402	D	0.000001	T	0.40743	0.1129	M	0.62723	1.935	0.52501	D	0.99995	P;D	0.54397	0.928;0.966	P;P	0.54401	0.565;0.751	T	0.25117	-1.0141	9	.	.	.	-22.4517	7.2577	0.26185	0.1707:0.742:0.0:0.0873	.	237;259	Q86UB9-2;Q86UB9	.;TM135_HUMAN	M	237;96;130;259;120	ENSP00000345513:I237M;ENSP00000436179:I130M;ENSP00000306344:I259M;ENSP00000439525:I120M	.	I	+	3	3	TMEM135	86698203	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.330000	0.43885	2.732000	0.93576	0.591000	0.81541	ATC	TMEM135	-	NULL		0.383	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM135	HGNC	protein_coding	OTTHUMT00000393875.1	C	NM_022918		87020555	1	no_errors	ENST00000305494	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87020555	C	G	87020555	3	3	50	1	0	0	0	0	1	0	0	0	16081	816	29	1	815	1	TMEM135	11	87020555	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	1598290	87020555	47985961	137	6787										
CCDC77	84318	genome.wustl.edu	37	chr12	520915	520915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atttctaatttcacgtaggcGaacagttgtctccaaacgtg	8	9	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:520915G>A	ENST00000239830.4	+	4	220	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_5'UTR|CCDC77_ENST00000540180.1_5'UTR|CCDC77_ENST00000412006.2_5'UTR	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	14						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TCACGTAGGCGAACAGTTGTC	0.458																																																	0													78	69	72					12																	520915		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.41G>A	12.37:g.520915G>A	ENSP00000239830:p.Arg14Gln		B4DDE8	Missense_Mutation	SNP	NULL	p.R14Q	ENST00000239830.4	37	c.41	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540078	0.04053	.	.	ENSG00000120647	ENST00000535052;ENST00000239830	T;T	0.34072	1.38;1.38	4.5	-4.14	0.03892	.	2.119320	0.01893	N	0.038718	T	0.12944	0.0314	N	0.03608	-0.345	0.22378	N	0.999155	B	0.06786	0.001	B	0.04013	0.001	T	0.08249	-1.0731	10	0.13470	T	0.59	1.0528	1.083	0.01647	0.2315:0.3255:0.2355:0.2075	.	14	Q9BR77	CCD77_HUMAN	Q	14	ENSP00000443209:R14Q;ENSP00000239830:R14Q	ENSP00000239830:R14Q	R	+	2	0	CCDC77	391176	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.173000	0.03108	-1.112000	0.02984	-3.366000	0.00041	CGA	CCDC77	-	NULL		0.458	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		520915	1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	0.000	A	A	520915	G	A	520915	3	1	50	1	0	0	0	0	1	0	0	0	2856	1058	37	1	47	1	CCDC77	12	520915	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		520915	133330980	138	6788										
CHD4	1108	genome.wustl.edu	37	chr12	6705248	6705248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	actctcccaagaagcctgatCgtaaggtaagtcccgccact	8	14	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:6705248C>T	ENST00000357008.2	-	13	2111	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	CHD4_ENST00000309577.6_Missense_Mutation_p.D650N|CHD4_ENST00000544040.1_Missense_Mutation_p.D643N|CHD4_ENST00000544484.1_Missense_Mutation_p.D647N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	650	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GAAGCCTGATCGTAAGGTAAG	0.507																																					Colon(32;586 792 4568 16848 45314)												0													146	119	128					12																	6705248		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1948G>A	12.37:g.6705248C>T	ENSP00000349508:p.Asp650Asn		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D650N	ENST00000357008.2	37	c.1948	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976093	0.92982	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.89	4.89	0.63831	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.058690	0.64402	D	0.000003	D	0.88551	0.6467	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.988;0.994	D	0.90679	0.4604	10	0.62326	D	0.03	-3.2761	18.0645	0.89387	0.0:1.0:0.0:0.0	.	650;650;643	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	647;643;650;650;624	ENSP00000440392:D647N;ENSP00000440542:D643N;ENSP00000312419:D650N;ENSP00000349508:D650N	ENSP00000312419:D650N	D	-	1	0	CHD4	6575509	1.000000	0.71417	0.896000	0.35187	0.678000	0.39670	7.792000	0.85828	2.243000	0.73865	0.655000	0.94253	GAT	CHD4	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6705248	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6705248	C	T	6705248	3	4	50	1	0	0	0	0	1	0	0	0	3332	884	31	1	3902	1	CHD4	12	6705248	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	6184333	6705248	127146647	139	6789										
KCNH3	23416	genome.wustl.edu	37	chr12	49951641	49951641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagggtcagggggcctggccTtgccctgggacccccacagc	15	16	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:49951641T>C	ENST00000257981.6	+	15	3417	c.3157T>C	c.(3157-3159)Ttg>Ctg	p.L1053L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1053	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCTGGCCTTGCCCTGGGA	0.652																																																	0													31	33	32					12																	49951641		2203	4300	6503	SO:0001819	synonymous_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.3157T>C	12.37:g.49951641T>C			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.L1053	ENST00000257981.6	37	c.3157	CCDS8786.1	12																																																																																			KCNH3	-	NULL		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	T	NM_012284		49951641	1	no_errors	ENST00000257981	ensembl	human	known	70_37	silent	SNP	1.000	C	C	49951641	T	C	49951641	2	2	50	1	0	0	0	0	0	0	0	1	8053	1606	56	5		5	KCNH3	12	49951641	Silent	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09	43246393	49951641	83900254	140	6790										
GALNT6	11226	genome.wustl.edu	37	chr12	51752955	51752955	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcctgcagatttctcctataGaaaatcttcttgtagctgtc	7	10	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:51752955G>T	ENST00000543196.2	-	7	1534	c.1329C>A	c.(1327-1329)ttC>ttA	p.F443L	GALNT6_ENST00000356317.3_Missense_Mutation_p.F443L			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	443					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCCTATAGAAAATCTTCT	0.532																																																	0													168	187	181					12																	51752955		2203	4300	6503	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1329C>A	12.37:g.51752955G>T	ENSP00000444171:p.Phe443Leu		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F443L	ENST00000543196.2	37	c.1329	CCDS8813.1	12	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731769	0.69189	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.70045	-0.45;-0.45	4.26	3.37	0.38596	.	0.107071	0.64402	D	0.000004	T	0.66247	0.2770	L	0.61036	1.89	0.48830	D	0.999716	P	0.41498	0.752	B	0.43950	0.437	T	0.68224	-0.5465	10	0.45353	T	0.12	.	12.1644	0.54120	0.0871:0.0:0.9129:0.0	.	443	Q8NCL4	GALT6_HUMAN	L	443;443;424	ENSP00000444171:F443L;ENSP00000348668:F443L	ENSP00000348668:F443L	F	-	3	2	GALNT6	50039222	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.363000	0.34159	1.388000	0.46506	0.561000	0.74099	TTC	GALNT6	-	NULL		0.532	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	G	NM_007210		51752955	-1	no_errors	ENST00000356317	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51752955	G	T	51752955	3	4	50	1	0	0	0	0	1	0	0	0	6236	933	33	3	559	3	GALNT6	12	51752955	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1801314	51752955	82098940	141	6791										
TENC1	23371	genome.wustl.edu	37	chr12	53454520	53454520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctcagagactgagtcctggcGaggccttgccccctgtttcc	11	15	1	2	rs151178618		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:53454520G>A	ENST00000314250.6	+	20	3120	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	TENC1_ENST00000549700.1_Missense_Mutation_p.E879K|TENC1_ENST00000314276.3_Missense_Mutation_p.E954K|TENC1_ENST00000379902.3_Missense_Mutation_p.E820K|TENC1_ENST00000546602.1_Missense_Mutation_p.E847K|TENC1_ENST00000552570.1_Missense_Mutation_p.E944K|TENC1_ENST00000451358.1_Missense_Mutation_p.E934K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	944	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GAGTCCTGGCGAGGCCTTGCC	0.677																																																	0								G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	36	37	37		2860,2830,2458	2.5	0	12	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense,missense	TENC1	NM_015319.2,NM_170754.2,NM_198316.1	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	954/1420,944/1410,820/1286	53454520	1,13005	2203	4300	6503	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2830G>A	12.37:g.53454520G>A	ENSP00000319684:p.Glu944Lys		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E954K	ENST00000314250.6	37	c.2860	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180786	0.09443	2.27E-4	0.0	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94376	-3.39;-3.39;-3.39;-3.38;-3.41;-3.38;-3.4	4.42	2.53	0.30540	.	0.827981	0.10969	N	0.614027	D	0.90625	0.7060	N	0.24115	0.695	0.09310	N	1	D;B;D;P	0.71674	0.998;0.0;0.997;0.944	P;B;P;B	0.56563	0.801;0.0;0.636;0.411	T	0.81143	-0.1067	10	0.33141	T	0.24	-3.4294	5.9645	0.19318	0.105:0.1936:0.7015:0.0	.	944;847;944;954	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	K	820;954;944;934;847;944;879	ENSP00000369232:E820K;ENSP00000319756:E954K;ENSP00000319684:E944K;ENSP00000393362:E934K;ENSP00000449363:E847K;ENSP00000447021:E944K;ENSP00000449361:E879K	ENSP00000319684:E944K	E	+	1	0	TENC1	51740787	0.147000	0.22687	0.017000	0.16124	0.853000	0.48598	0.520000	0.22878	0.588000	0.29660	0.462000	0.41574	GAG	TENC1	-	NULL		0.677	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	G	NM_170754		53454520	1	no_errors	ENST00000314276	ensembl	human	known	70_37	missense	SNP	0.000	A	A	53454520	G	A	53454520	3	1	50	1	0	0	0	0	1	0	0	0	15788	1059	37	1	3017	1	TENC1	12	53454520	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1701565	53454520	80397375	142	6792										
ANKRD52	283373	genome.wustl.edu	37	chr12	56641847	56641847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cacttgcgcttgcgctccttGatgagggcagaggcgccgtg	15	12	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:56641847G>A	ENST00000267116.7	-	18	2059	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	646										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGCGCTCCTTGATGAGGGCAG	0.637																																																	0													29	35	33					12																	56641847		2057	4197	6254	SO:0001819	synonymous_variant	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1938C>T	12.37:g.56641847G>A			A6NE79|B1Q2K2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I646	ENST00000267116.7	37	c.1938	CCDS44920.1	12																																																																																			ANKRD52	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.637	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	G	NM_173595		56641847	-1	no_errors	ENST00000267116	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56641847	G	A	56641847	2	1	50	1	0	0	0	0	0	0	0	1	678	1280	45	1		1	ANKRD52	12	56641847	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	3187327	56641847	77210048	143	6793										
GNS	2799	genome.wustl.edu	37	chr12	65115475	65115475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	catcttcacatacacagtctGggaagcattgctgtagggat	10	9	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:65115475G>T	ENST00000258145.3	-	12	1489	c.1319C>A	c.(1318-1320)cCa>cAa	p.P440Q	GNS_ENST00000418919.2_Missense_Mutation_p.P384Q|GNS_ENST00000542058.1_Missense_Mutation_p.P420Q|GNS_ENST00000543646.1_Missense_Mutation_p.P472Q	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	440					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TACACAGTCTGGGAAGCATTG	0.418																																																	0													143	120	128					12																	65115475		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1319C>A	12.37:g.65115475G>T	ENSP00000258145:p.Pro440Gln		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.P440Q	ENST00000258145.3	37	c.1319	CCDS8970.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.067163	0.93898	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.71	5.71	0.89125	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;0.999	D;D;D;D	0.83275	0.963;0.996;0.958;0.99	T	0.79657	-0.1712	9	.	.	.	-15.0115	20.2469	0.98398	0.0:0.0:1.0:0.0	.	420;472;440;384	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	Q	384;440;472;420;357	ENSP00000413130:P384Q;ENSP00000258145:P440Q;ENSP00000438497:P472Q;ENSP00000444819:P420Q	.	P	-	2	0	GNS	63401742	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.725000	0.98778	2.873000	0.98535	0.561000	0.74099	CCA	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	G			65115475	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65115475	G	T	65115475	3	4	50	1	0	0	0	0	1	0	0	0	6569	1348	47	4	351	4	GNS	12	65115475	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	8473628	65115475	68736420	144	6794										
GLIPR1	11010	genome.wustl.edu	37	chr12	75874744	75874744	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcaaatattttgccagatatCgaaaatgaagatttcatcaa	6	6	2	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:75874744C>T	ENST00000266659.3	+	1	285	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	28					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGCCAGATATCGAAAATGAAG	0.403																																																	0													93	88	89					12																	75874744		2203	4300	6503	SO:0001819	synonymous_variant	11010			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.84C>T	12.37:g.75874744C>T			A7YET6|F8VUC2|Q15409|Q969K2	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.I28	ENST00000266659.3	37	c.84	CCDS9011.1	12																																																																																			GLIPR1	-	superfamily_CAP_domain		0.403	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	C	NM_006851		75874744	1	no_errors	ENST00000266659	ensembl	human	known	70_37	silent	SNP	0.000	T	T	75874744	C	T	75874744	2	4	50	1	0	0	0	0	0	0	0	1	6460	874	31	1		1	GLIPR1	12	75874744	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	10759269	75874744	57977151	145	6795										
APPL2	55198	genome.wustl.edu	37	chr12	105591668	105591668	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctcccctgggctgacacatGagattcccgccttgggtgaa	12	13	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:105591668G>A	ENST00000258530.3	-	11	1152	c.927C>T	c.(925-927)ctC>ctT	p.L309L	APPL2_ENST00000539978.2_Silent_p.L266L|APPL2_ENST00000551662.1_Silent_p.L315L|APPL2_ENST00000549573.1_Intron	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTGACACATGAGATTCCCGC	0.547																																																	0													79	78	79					12																	105591668		2203	4300	6503	SO:0001819	synonymous_variant	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.927C>T	12.37:g.105591668G>A			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.L315	ENST00000258530.3	37	c.945	CCDS9101.1	12																																																																																			APPL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.547	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	G	NM_018171		105591668	-1	no_errors	ENST00000551662	ensembl	human	known	70_37	silent	SNP	1.000	A	A	105591668	G	A	105591668	2	1	50	1	0	0	0	0	0	0	0	1	818	1277	45	1		1	APPL2	12	105591668	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	29716924	105591668	28260227	146	6796										
FBXW8	26259	genome.wustl.edu	37	chr12	117402550	117402550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gacacccgcacctgggactaCgtagcccccttcctggaatc	9	17	0	0	rs376292994	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:117402550C>T	ENST00000309909.5	+	5	808	c.726C>T	c.(724-726)taC>taT	p.Y242Y	FBXW8_ENST00000455858.2_Silent_p.Y176Y			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	242					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCTGGGACTACGTAGCCCCCT	0.522													c|||	2	0.000399361	0.0015	0	5008	,	,		18729	0		0	False		,,,				2504	0																0								T	,	3,4403	2.1+/-5.4	0,3,2200	204	186	192		528,726	-0.9	0.5	12		192	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FBXW8	NM_012174.1,NM_153348.2	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	176/533,242/599	117402550	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.726C>T	12.37:g.117402550C>T			Q9UK95	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y242	ENST00000309909.5	37	c.726	CCDS9182.1	12																																																																																			FBXW8	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.522	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	C	NM_012174		117402550	1	no_errors	ENST00000309909	ensembl	human	known	70_37	silent	SNP	0.227	T	T	117402550	C	T	117402550	2	4	50	1	0	0	0	0	0	0	0	1	5788	547	19	2		2	FBXW8	12	117402550	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	11810882	117402550	16449345	147	6797										
RFC5	5985	genome.wustl.edu	37	chr12	118454660	118454660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cctcagcactcaagcagcagGagcagcccgcggcgaccaag	12	16	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:118454660G>A	ENST00000454402.2	+	1	146	c.28G>A	c.(28-30)Gag>Aag	p.E10K	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	10					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGCAGCAGGAGCAGCCCGC	0.701																																																	0													24	25	25					12																	118454660		2196	4298	6494	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.28G>A	12.37:g.118454660G>A	ENSP00000408295:p.Glu10Lys		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.E10K	ENST00000454402.2	37	c.28	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228043	0.22542	.	.	ENSG00000111445	ENST00000454402	T	0.13901	2.55	4.05	2.17	0.27698	.	0.977578	0.08358	N	0.958171	T	0.07098	0.0180	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.26916	-1.0089	10	0.06236	T	0.91	17.0228	12.1044	0.53803	0.0:0.4806:0.5194:0.0	.	24;10	Q59GW7;P40937	.;RFC5_HUMAN	K	10	ENSP00000408295:E10K	ENSP00000408295:E10K	E	+	1	0	RFC5	116939043	0.997000	0.39634	0.679000	0.29978	0.217000	0.24651	0.963000	0.29293	0.458000	0.26988	-0.304000	0.09214	GAG	RFC5	-	NULL		0.701	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	G	NM_007370		118454660	1	no_errors	ENST00000454402	ensembl	human	known	70_37	missense	SNP	0.920	A	A	118454660	G	A	118454660	3	1	50	1	0	0	0	0	1	0	0	0	13278	1175	41	1	30	1	RFC5	12	118454660	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1052110	118454660	15397235	148	6798										
RFC5	5985	genome.wustl.edu	37	chr12	118454686	118454686	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cccgcggcgaccaagatcagGaacctgccctggtaggagga	14	13	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:118454686G>A	ENST00000454402.2	+	1	172	c.54G>A	c.(52-54)agG>agA	p.R18R	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	18					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAAGATCAGGAACCTGCCCT	0.711																																																	0													23	23	23					12																	118454686		2196	4298	6494	SO:0001819	synonymous_variant	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.54G>A	12.37:g.118454686G>A			A8MZ62|B3KSX8	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.R18	ENST00000454402.2	37	c.54	CCDS9185.1	12																																																																																			RFC5	-	pfam_DUF815		0.711	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	G	NM_007370		118454686	1	no_errors	ENST00000454402	ensembl	human	known	70_37	silent	SNP	0.997	A	A	118454686	G	A	118454686	2	1	50	1	0	0	0	0	0	0	0	1	13278	1165	41	1		1	RFC5	12	118454686	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	26	118454686	15397209	149	6799										
ZCCHC8	55596	genome.wustl.edu	37	chr12	122968017	122968017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgtaggatacttgggtatttCccatccttcggaaagctgag	11	8	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:122968017C>T	ENST00000336229.4	-	6	725	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ZCCHC8_ENST00000536306.1_Intron|ZCCHC8_ENST00000543897.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	199					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGGGTATTTCCCATCCTTCG	0.378																																																	0													81	71	74					12																	122968017		1827	4084	5911	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.595G>A	12.37:g.122968017C>T	ENSP00000337313:p.Glu199Lys		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.E199K	ENST00000336229.4	37	c.595		12	.	.	.	.	.	.	.	.	.	.	C	32	5.170572	0.94807	.	.	ENSG00000033030	ENST00000336229	T	0.50277	0.75	6.03	5.14	0.70334	.	0.182541	0.64402	D	0.000017	T	0.50051	0.1593	M	0.67953	2.075	0.47737	D	0.9995	B	0.32573	0.376	B	0.32149	0.141	T	0.54268	-0.8319	10	0.66056	D	0.02	-26.5155	17.1032	0.86655	0.0:0.8732:0.1268:0.0	.	199	Q6NZY4	ZCHC8_HUMAN	K	199	ENSP00000337313:E199K	ENSP00000337313:E199K	E	-	1	0	ZCCHC8	121533970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.714000	0.68422	1.548000	0.49413	0.557000	0.71058	GAA	ZCCHC8	-	NULL		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		C	NM_017612		122968017	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122968017	C	T	122968017	3	4	50	1	0	0	0	0	1	0	0	0	17624	864	30	1	1564	1	ZCCHC8	12	122968017	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	4513331	122968017	10883878	150	6800										
DACH1	1602	genome.wustl.edu	37	chr13	72440795	72440795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgatggaaggagccggagacGaagtcgccgaagaggtggag	19	7	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr13:72440795G>A	ENST00000359684.2	-	1	112	c.113C>T	c.(112-114)tCg>tTg	p.S38L	DACH1_ENST00000305425.4_Missense_Mutation_p.S38L|DACH1_ENST00000354591.4_Missense_Mutation_p.S38L|DACH1_ENST00000313174.7_Missense_Mutation_p.S38L			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	38					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCCGGAGACGAAGTCGCCGA	0.692																																																	0													21	28	26					13																	72440795		1968	4140	6108	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.113C>T	13.37:g.72440795G>A	ENSP00000352712:p.Ser38Leu		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S38L	ENST00000359684.2	37	c.113		13	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193702	0.38707	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.41400	1.05;1.0;1.1;1.13	3.22	3.22	0.36961	.	0.755128	0.12069	U	0.502415	T	0.27063	0.0663	N	0.19112	0.55	0.35846	D	0.826434	P;P;P	0.50443	0.935;0.935;0.723	B;B;B	0.39094	0.29;0.29;0.217	T	0.37888	-0.9686	10	0.72032	D	0.01	-2.2959	10.0634	0.42288	0.0:0.0:0.7986:0.2014	.	38;38;38	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	L	38	ENSP00000304994:S38L;ENSP00000318506:S38L;ENSP00000346604:S38L;ENSP00000352712:S38L	ENSP00000304994:S38L	S	-	2	0	DACH1	71338796	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.983000	0.56916	1.607000	0.50170	0.462000	0.41574	TCG	DACH1	-	NULL		0.692	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	G	NM_004392		72440795	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72440795	G	A	72440795	3	1	50	1	0	0	0	0	1	0	0	0	4225	1059	37	1	2057	1	DACH1	13	72440795	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		72440795	42729083	151	6801										
F10	2159	genome.wustl.edu	37	chr13	113803395	113803395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgtggcgcctgcctgcctccCcgagcgtgactgggccgagt	15	16	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr13:113803395C>A	ENST00000375559.3	+	8	1069	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	344	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GCCTGCCTCCCCGAGCGTGAC	0.647																																																	0													96	78	84					13																	113803395		2203	4300	6503	SO:0001583	missense	2159				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1031C>A	13.37:g.113803395C>A	ENSP00000364709:p.Pro344His		Q14340	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.P344H	ENST00000375559.3	37	c.1031	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956917	0.73902	.	.	ENSG00000126218	ENST00000375559	D	0.95205	-3.64	5.25	5.25	0.73442	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99490	1.0950	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	344	P00742	FA10_HUMAN	H	344	ENSP00000364709:P344H	ENSP00000364709:P344H	P	+	2	0	F10	112851396	0.996000	0.38824	0.992000	0.48379	0.229000	0.25112	4.696000	0.61774	2.445000	0.82738	0.563000	0.77884	CCC	F10	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6		0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	C			113803395	1	no_errors	ENST00000375559	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113803395	C	A	113803395	3	1	50	1	0	0	0	0	1	0	0	0	5348	623	22	4	1061	4	F10	13	113803395	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	41362600	113803395	1366483	152	6802										
HECTD1	25831	genome.wustl.edu	37	chr14	31597175	31597175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gatgtagtaccaggtgtggtCaaattagggaaactctgagc	13	6	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:31597175C>A	ENST00000399332.1	-	26	5285	c.4797G>T	c.(4795-4797)ttG>ttT	p.L1599F	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1599F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1599	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGGTGTGGTCAAATTAGGGA	0.398																																																	0													102	93	96					14																	31597175		1922	4131	6053	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4797G>T	14.37:g.31597175C>A	ENSP00000382269:p.Leu1599Phe		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.L1599F	ENST00000399332.1	37	c.4797	CCDS41939.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.61|12.61	1.990253|1.990253	0.35131|0.35131	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000557369|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.44482	.|0.92;0.92;3.13	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.64402	.|U	.|0.000014	T|T	0.51958|0.51958	0.1705|0.1705	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.995	.|D;D	.|0.72982	.|0.979;0.979	T|T	0.31166|0.31166	-0.9953|-0.9953	5|10	.|0.19147	.|T	.|0.46	-5.2059|-5.2059	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1599;1599	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	Y|F	151|1599;1601;1599;1026	.|ENSP00000450697:L1599F;ENSP00000382269:L1599F;ENSP00000451860:L1026F	.|ENSP00000261312:L1601F	D|L	-|-	1|3	0|2	HECTD1|HECTD1	30666926|30666926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.733000|3.733000	0.55029|0.55029	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAC|TTG	HECTD1	-	NULL		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31597175	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31597175	C	A	31597175	3	1	50	1	0	0	0	0	1	0	0	0	7059	825	29	3	3107	3	HECTD1	14	31597175	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		31597175	75752365	153	6803										
NRXN3	9369	genome.wustl.edu	37	chr14	79432549	79432549	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gacattgattattgtgagctGaaggctcgttttggactgag	13	5	0	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:79432549G>A	ENST00000554719.1	+	9	1949	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	NRXN3_ENST00000335750.5_Silent_p.L486L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATTGTGAGCTGAAGGCTCGTT	0.478																																																	0													167	130	142					14																	79432549		2203	4300	6503	SO:0001819	synonymous_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1458G>A	14.37:g.79432549G>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.L848	ENST00000554719.1	37	c.2544	CCDS9870.1	14																																																																																			NRXN3	-	NULL		0.478	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	G	NM_001105250		79432549	1	no_errors	ENST00000554738	ensembl	human	known	70_37	silent	SNP	1.000	A	A	79432549	G	A	79432549	2	1	50	1	0	0	0	0	0	0	0	1	10691	1277	45	1		1	NRXN3	14	79432549	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	47835374	79432549	27916991	154	6804										
STON2	85439	genome.wustl.edu	37	chr14	81745071	81745071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cttcttcatcttcttgaagcGaggaggaattgtctaaaagg	10	7	5	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:81745071G>A	ENST00000267540.2	-	4	784	c.584C>T	c.(583-585)tCg>tTg	p.S195L	STON2_ENST00000555447.1_Missense_Mutation_p.S195L|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	195					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTCTTGAAGCGAGGAGGAATT	0.493																																																	0													55	58	57					14																	81745071		2202	4300	6502	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.584C>T	14.37:g.81745071G>A	ENSP00000267540:p.Ser195Leu		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S195L	ENST00000267540.2	37	c.584	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	G	6.736	0.504652	0.12822	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55234	0.53;0.53	6.11	5.22	0.72569	Stonin-2, N-terminal (1);	0.152767	0.47093	N	0.000254	T	0.44117	0.1278	L	0.45581	1.43	0.35098	D	0.764986	P;P	0.45986	0.87;0.842	B;B	0.35470	0.203;0.129	T	0.59974	-0.7353	10	0.42905	T	0.14	-8.7092	15.4263	0.75055	0.0661:0.0:0.9339:0.0	.	195;195	Q8WXE9;G3V2T7	STON2_HUMAN;.	L	195;207;195	ENSP00000450857:S195L;ENSP00000267540:S195L	ENSP00000267540:S195L	S	-	2	0	STON2	80814824	1.000000	0.71417	0.986000	0.45419	0.089000	0.18198	3.858000	0.55979	1.605000	0.50152	0.655000	0.94253	TCG	STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	G	NM_033104		81745071	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	missense	SNP	0.988	A	A	81745071	G	A	81745071	3	1	50	1	0	0	0	0	1	0	0	0	15348	1059	37	1	2139	1	STON2	14	81745071	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2312522	81745071	25604469	155	6805										
PPP4R4	57718	genome.wustl.edu	37	chr14	94718190	94718190	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttttctgtaaatatttctttCtacctgctattgaactgaca	4	8	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:94718190C>G	ENST00000304338.3	+	16	1976	c.1822C>G	c.(1822-1824)Cta>Gta	p.L608V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	608					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATATTTCTTTCTACCTGCTAT	0.294																																																	0													42	45	44					14																	94718190		2202	4281	6483	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1822C>G	14.37:g.94718190C>G	ENSP00000305924:p.Leu608Val		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L608V	ENST00000304338.3	37	c.1822	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	6.763	0.509698	0.12883	.	.	ENSG00000119698	ENST00000304338	T	0.31247	1.5	5.72	1.83	0.25207	Armadillo-like helical (1);Armadillo-type fold (1);	0.211578	0.41194	D	0.000925	T	0.25044	0.0608	L	0.57536	1.79	0.80722	D	1	B	0.34103	0.437	B	0.30105	0.111	T	0.04178	-1.0971	10	0.24483	T	0.36	-9.9365	10.1321	0.42685	0.0:0.605:0.0:0.395	.	608	Q6NUP7	PP4R4_HUMAN	V	608	ENSP00000305924:L608V	ENSP00000305924:L608V	L	+	1	2	PPP4R4	93787943	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.031000	0.30165	0.349000	0.23975	0.462000	0.41574	CTA	PPP4R4	-	superfamily_ARM-type_fold		0.294	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	C	NM_058237		94718190	1	no_errors	ENST00000304338	ensembl	human	known	70_37	missense	SNP	0.993	G	G	94718190	C	G	94718190	3	3	50	1	0	0	0	0	1	0	0	0	12432	912	32	1	1957	1	PPP4R4	14	94718190	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	12973119	94718190	12631350	156	6806										
PPP2R5C	5527	genome.wustl.edu	37	chr14	102391583	102391583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aagctcactgcagggccgatGagctggcctcccaggacggc	14	14	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:102391583G>A	ENST00000334743.5	+	14	1597	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E533K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E548K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E478K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	517					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGGGCCGATGAGCTGGCCTC	0.627																																																	0													44	51	49					14																	102391583		2203	4300	6503	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1549G>A	14.37:g.102391583G>A	ENSP00000333905:p.Glu517Lys		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E548K	ENST00000334743.5	37	c.1642	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148812	0.78001	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.52295	0.69;0.68;0.69;0.67;0.69	6.17	3.31	0.37934	.	0.234215	0.50627	D	0.000116	T	0.56062	0.1960	M	0.77820	2.39	0.45150	D	0.998161	P;P;B;B	0.38250	0.624;0.538;0.151;0.311	P;B;B;B	0.44772	0.46;0.366;0.089;0.097	T	0.56523	-0.7965	10	0.46703	T	0.11	-4.5699	13.1917	0.59715	0.0:0.2296:0.6508:0.1195	.	548;478;517;533	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	K	548;533;546;478;517	ENSP00000412324:E548K;ENSP00000329009:E533K;ENSP00000450931:E546K;ENSP00000262239:E478K;ENSP00000333905:E517K	ENSP00000329009:E533K	E	+	1	0	PPP2R5C	101461336	1.000000	0.71417	0.093000	0.20910	0.954000	0.61252	4.910000	0.63321	0.442000	0.26555	0.655000	0.94253	GAG	PPP2R5C	-	NULL		0.627	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	G	NM_002719		102391583	1	no_errors	ENST00000422945	ensembl	human	known	70_37	missense	SNP	0.997	A	A	102391583	G	A	102391583	3	1	50	1	0	0	0	0	1	0	0	0	12421	1291	45	1	1996	1	PPP2R5C	14	102391583	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7673393	102391583	4957957	157	6807										
FMN1	342184	genome.wustl.edu	37	chr15	33261392	33261392	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggggtgagagctggcttaaaGaggagatattcagctttttg	15	4	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:33261392G>T	ENST00000559047.1	-	5	2509	c.2510C>A	c.(2509-2511)tCt>tAt	p.S837Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S614Y|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.S739Y			Q68DA7	FMN1_HUMAN	formin 1	837	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGCTTAAAGAGGAGATATT	0.488																																																	0													212	199	203					15																	33261392		2007	4180	6187	SO:0001583	missense	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2510C>A	15.37:g.33261392G>T	ENSP00000454047:p.Ser837Tyr		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.S614Y	ENST00000559047.1	37	c.1841		15	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481854	0.26598	.	.	ENSG00000248905	ENST00000334528	T	0.44482	0.92	4.03	4.03	0.46877	.	0.124068	0.56097	D	0.000032	T	0.47432	0.1445	M	0.62723	1.935	.	.	.	P	0.49358	0.923	P	0.49276	0.605	T	0.64668	-0.6353	9	0.59425	D	0.04	.	11.0494	0.47878	0.0908:0.0:0.9092:0.0	.	614	Q68DA7-5	.	Y	614	ENSP00000333950:S614Y	ENSP00000333950:S614Y	S	-	2	0	FMN1	31048684	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.925000	0.63425	2.079000	0.62486	0.555000	0.69702	TCT	FMN1	-	NULL		0.488	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	G	NM_001103184		33261392	-1	no_errors	ENST00000334528	ensembl	human	known	70_37	missense	SNP	0.989	T	T	33261392	G	T	33261392	3	4	50	1	0	0	0	0	1	0	0	0	5967	942	33	3	1805	3	FMN1	15	33261392	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		33261392	69270000	158	6808										
DISP2	85455	genome.wustl.edu	37	chr15	40656682	40656682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atgctgtgtctggctgtcatCttcctctgcaccctggctgg	11	13	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:40656682C>G	ENST00000267889.3	+	4	627	c.540C>G	c.(538-540)atC>atG	p.I180M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	180					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGCTGTCATCTTCCTCTGCA	0.617																																																	0													97	87	91					15																	40656682		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.540C>G	15.37:g.40656682C>G	ENSP00000267889:p.Ile180Met		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.I180M	ENST00000267889.3	37	c.540	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356668	0.41801	.	.	ENSG00000140323	ENST00000267889	T	0.13657	2.57	5.01	3.1	0.35709	.	0.352881	0.30446	N	0.009618	T	0.13500	0.0327	L	0.59436	1.845	0.09310	N	1	P	0.37636	0.603	B	0.39258	0.295	T	0.17410	-1.0370	10	0.72032	D	0.01	-11.3515	4.1103	0.10055	0.2884:0.4682:0.0:0.2434	.	180	A7MBM2	DISP2_HUMAN	M	180	ENSP00000267889:I180M	ENSP00000267889:I180M	I	+	3	3	DISP2	38443974	0.000000	0.05858	0.997000	0.53966	0.624000	0.37722	-0.379000	0.07437	1.356000	0.45884	0.462000	0.41574	ATC	DISP2	-	NULL		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40656682	1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.034	G	G	40656682	C	G	40656682	3	3	50	1	0	0	0	0	1	0	0	0	4550	903	32	1	554	1	DISP2	15	40656682	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	7395290	40656682	61874710	159	6809										
INO80	54617	genome.wustl.edu	37	chr15	41347514	41347514	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaaccattcattaaattcctCatgtgaatcaaataatgttg	4	7	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:41347514C>A	ENST00000361937.3	-	18	2543	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*	INO80_ENST00000401393.3_Nonsense_Mutation_p.E707*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	707	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTAAATTCCTCATGTGAATCA	0.368																																																	0													116	105	109					15																	41347514		2203	4300	6503	SO:0001587	stop_gained	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2119G>T	15.37:g.41347514C>A	ENSP00000355205:p.Glu707*		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E707*	ENST00000361937.3	37	c.2119	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.010478	0.98607	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	17.5275	0.87804	0.0:1.0:0.0:0.0	.	.	.	.	X	707	.	ENSP00000355205:E707X	E	-	1	0	INO80	39134806	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.805000	0.86005	2.141000	0.66446	0.455000	0.32223	GAG	INO80	-	pfam_SNF2_N,smart_Helicase_ATP-bd		0.368	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41347514	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	41347514	C	A	41347514	4	1	50	1	0	0	0	0	0	1	0	0	7766	835	29	3	2627	3	INO80	15	41347514	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	690832	41347514	61183878	160	6810										
OIP5	11339	genome.wustl.edu	37	chr15	41601953	41601953	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctcaagctttggtacaggatCagttttctggcttggactgg	12	8	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:41601953C>T	ENST00000220514.3	-	5	748	c.689G>A	c.(688-690)tGa>tAa	p.*230*		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	0					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGTACAGGATCAGTTTTCTGG	0.418																																																	0													129	109	116					15																	41601953		2203	4300	6503	SO:0001819	synonymous_variant	11339			AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"MIS18 kinetochore protein homolog B (S. pombe)", "cancer/testis antigen 86"	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.689G>A	15.37:g.41601953C>T			Q96BX7	Silent	SNP	NULL	p.*230	ENST00000220514.3	37	c.689	CCDS10074.1	15																																																																																			OIP5	-	NULL		0.418	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIP5	HGNC	protein_coding	OTTHUMT00000252576.2	C	NM_007280		41601953	-1	no_errors	ENST00000220514	ensembl	human	known	70_37	silent	SNP	0.270	T	T	41601953	C	T	41601953	2	4	50	1	0	0	0	0	0	0	0	1	10872	837	29	1		1	OIP5	15	41601953	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	254439	41601953	60929439	161	6811										
DUOX1	53905	genome.wustl.edu	37	chr15	45430180	45430180	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	actcaagtgtctccagagctCtccgggtctgcaacagctac	9	14	4	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:45430180C>T	ENST00000321429.4	+	11	1488	c.1081C>T	c.(1081-1083)Ctc>Ttc	p.L361F	DUOX1_ENST00000561166.1_5'Flank|DUOX1_ENST00000389037.3_Missense_Mutation_p.L361F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	361	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCCAGAGCTCTCCGGGTCTG	0.537																																																	0													83	81	82					15																	45430180		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1081C>T	15.37:g.45430180C>T	ENSP00000317997:p.Leu361Phe		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.L361F	ENST00000321429.4	37	c.1081	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758551	0.69763	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.71817	-0.6;-0.6	4.6	4.6	0.57074	.	0.280494	0.35555	N	0.003135	T	0.81791	0.4897	M	0.85542	2.76	0.51767	D	0.99993	D	0.56746	0.977	P	0.62560	0.904	D	0.83475	0.0061	10	0.66056	D	0.02	-35.9868	8.803	0.34920	0.0:0.8987:0.0:0.1013	.	361	Q9NRD9	DUOX1_HUMAN	F	361	ENSP00000317997:L361F;ENSP00000373689:L361F	ENSP00000317997:L361F	L	+	1	0	DUOX1	43217472	0.019000	0.18553	1.000000	0.80357	0.991000	0.79684	0.005000	0.13129	2.538000	0.85594	0.563000	0.77884	CTC	DUOX1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.537	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	C	NM_017434		45430180	1	no_errors	ENST00000321429	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45430180	C	T	45430180	3	4	50	1	0	0	0	0	1	0	0	0	4810	913	32	1	1115	1	DUOX1	15	45430180	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3828227	45430180	57101212	162	6812										
ATP8B4	79895	genome.wustl.edu	37	chr15	50273469	50273469	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aactttgtcttaccactattCtgcattagtttagtgtcagg	7	8	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:50273469C>A	ENST00000284509.6	-	11	912	c.771G>T	c.(769-771)caG>caT	p.Q257H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q257H|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	257						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACCACTATTCTGCATTAGTT	0.299																																																	0													179	162	167					15																	50273469		2195	4295	6490	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.771G>T	15.37:g.50273469C>A	ENSP00000284509:p.Gln257His		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.Q257H	ENST00000284509.6	37	c.771	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408112	0.62399	.	.	ENSG00000104043	ENST00000284509	D	0.91068	-2.78	5.52	1.34	0.21922	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	H	0.96547	3.84	0.44595	D	0.997562	D	0.89917	1.0	D	0.87578	0.998	D	0.92509	0.6015	10	0.72032	D	0.01	.	5.166	0.15086	0.1427:0.6036:0.0:0.2538	.	257	Q8TF62	AT8B4_HUMAN	H	257	ENSP00000284509:Q257H	ENSP00000284509:Q257H	Q	-	3	2	ATP8B4	48060761	0.998000	0.40836	0.998000	0.56505	0.930000	0.56654	0.734000	0.26101	0.048000	0.15891	-0.137000	0.14449	CAG	ATP8B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.299	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	C	NM_024837		50273469	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50273469	C	A	50273469	3	1	50	1	0	0	0	0	1	0	0	0	1198	912	32	3	2879	3	ATP8B4	15	50273469	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	4843289	50273469	52257923	163	6813										
CGNL1	84952	genome.wustl.edu	37	chr15	57837863	57837863	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agctggtgatgcaggtggatGatgagcacctgtcattgact	14	7	1	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:57837863G>A	ENST00000281282.5	+	17	3652	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1192						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGTGGATGATGAGCACCT	0.562																																																	0													66	52	57					15																	57837863		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3574G>A	15.37:g.57837863G>A	ENSP00000281282:p.Asp1192Asn		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.D1192N	ENST00000281282.5	37	c.3574	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.062736	0.93898	.	.	ENSG00000128849	ENST00000281282	D	0.85339	-1.97	5.39	5.39	0.77823	Myosin tail (1);	0.000000	0.53938	D	0.000042	D	0.93259	0.7852	M	0.85373	2.75	0.58432	D	0.999994	D	0.76494	0.999	D	0.72075	0.976	D	0.94029	0.7299	10	0.87932	D	0	-34.7569	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1192	Q0VF96	CGNL1_HUMAN	N	1192	ENSP00000281282:D1192N	ENSP00000281282:D1192N	D	+	1	0	CGNL1	55625155	1.000000	0.71417	0.918000	0.36340	0.696000	0.40369	9.792000	0.99085	2.526000	0.85167	0.563000	0.77884	GAT	CGNL1	-	pfam_Myosin_tail		0.562	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	G	NM_032866		57837863	1	no_errors	ENST00000281282	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57837863	G	A	57837863	3	1	50	1	0	0	0	0	1	0	0	0	3309	1290	45	1	3636	1	CGNL1	15	57837863	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7564394	57837863	44693529	164	6814										
FEM1B	10116	genome.wustl.edu	37	chr15	68582995	68582995	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aatatttcagatgctgatgtCcacaatgctatggacaatta	7	7	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:68582995C>T	ENST00000306917.4	+	2	1914	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	433					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATGCTGATGTCCACAATGCTA	0.368																																																	0													96	94	94					15																	68582995		2200	4298	6498	SO:0001819	synonymous_variant	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1299C>T	15.37:g.68582995C>T			O43146	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V433	ENST00000306917.4	37	c.1299	CCDS10228.1	15																																																																																			FEM1B	-	NULL		0.368	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68582995	1	no_errors	ENST00000306917	ensembl	human	known	70_37	silent	SNP	0.875	T	T	68582995	C	T	68582995	2	4	50	1	0	0	0	0	0	0	0	1	5828	842	30	1		1	FEM1B	15	68582995	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	10745132	68582995	33948397	165	6815										
NRG4	145957	genome.wustl.edu	37	chr15	76248315	76248315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgtctctaccaggttgatatCatactggactgaactggctc	9	11	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:76248315C>G	ENST00000394907.3	-	5	470	c.289G>C	c.(289-291)Gat>Cat	p.D97H		NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	97					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						AGGTTGATATCATACTGGACT	0.408																																																	0													139	128	132					15																	76248315		2197	4294	6491	SO:0001583	missense	145957			BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.289G>C	15.37:g.76248315C>G	ENSP00000378367:p.Asp97His		A6NIE8	Missense_Mutation	SNP	smart_EG-like_dom,pfscan_EG-like_dom	p.D97H	ENST00000394907.3	37	c.289	CCDS10288.1	15	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129763	0.37630	.	.	ENSG00000169752	ENST00000394907	T	0.18174	2.23	5.06	4.13	0.48395	.	.	.	.	.	T	0.19127	0.0459	L	0.59436	1.845	0.38850	D	0.956257	B	0.12013	0.005	B	0.12156	0.007	T	0.03240	-1.1057	9	0.41790	T	0.15	-4.8315	12.4366	0.55602	0.0:0.8305:0.1695:0.0	.	97	Q8WWG1	NRG4_HUMAN	H	97	ENSP00000378367:D97H	ENSP00000378367:D97H	D	-	1	0	NRG4	74035370	0.996000	0.38824	0.018000	0.16275	0.259000	0.26198	1.684000	0.37649	1.072000	0.40860	0.655000	0.94253	GAT	NRG4	-	NULL		0.408	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRG4	HGNC	protein_coding	OTTHUMT00000286632.1	C	NM_138573		76248315	-1	no_errors	ENST00000394907	ensembl	human	known	70_37	missense	SNP	0.371	G	G	76248315	C	G	76248315	3	3	50	1	0	0	0	0	1	0	0	0	10674	826	29	1	66	1	NRG4	15	76248315	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	7665320	76248315	26283077	166	6816										
TBC1D2B	23102	genome.wustl.edu	37	chr15	78316761	78316761	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggtaaggcccagaatctgatCatccttttggtgcagaagct	11	9	2	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:78316761C>T	ENST00000300584.3	-	6	1206	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D403N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	403							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAATCTGATCATCCTTTTGG	0.547																																																	0													155	154	154					15																	78316761		2196	4293	6489	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1207G>A	15.37:g.78316761C>T	ENSP00000300584:p.Asp403Asn		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.D403N	ENST00000300584.3	37	c.1207	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.226179|3.226179	0.58668|0.58668	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.08193|.	3.12;3.13|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.695001|.	0.15172|.	N|.	0.276602|.	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.51422|0.51422	1.61|1.61	0.25639|0.25639	N|N	0.986229|0.986229	B;B|.	0.26547|.	0.152;0.094|.	B;B|.	0.27500|.	0.08;0.023|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.26408|.	T|.	0.33|.	.|.	12.1721|12.1721	0.54165|0.54165	0.0:0.9223:0.0:0.0777|0.0:0.9223:0.0:0.0777	.|.	403;403|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	N|I	403;403;291|284	ENSP00000387165:D403N;ENSP00000300584:D403N|.	ENSP00000300584:D403N|.	D|M	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76103816|76103816	0.001000|0.001000	0.12720|0.12720	0.299000|0.299000	0.25016|0.25016	0.936000|0.936000	0.57629|0.57629	0.993000|0.993000	0.29680|0.29680	2.681000|2.681000	0.91329|0.91329	0.491000|0.491000	0.48974|0.48974	GAT|ATG	TBC1D2B	-	NULL		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	C	NM_015079		78316761	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	0.741	T	T	78316761	C	T	78316761	3	4	50	1	0	0	0	0	1	0	0	0	15649	826	29	1	1716	1	TBC1D2B	15	78316761	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2068446	78316761	24214631	167	6817										
BTBD1	53339	genome.wustl.edu	37	chr15	83735727	83735727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccgagttgaagaggaaggcGaagcgctccttcagcgacgc	14	11	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:83735727G>A	ENST00000261721.4	-	1	379	c.177C>T	c.(175-177)ttC>ttT	p.F59F	RP11-382A20.5_ENST00000566841.1_RNA|MIR4515_ENST00000584082.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Silent_p.F59F	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	59					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AGAGGAAGGCGAAGCGCTCCT	0.716																																																	0													18	17	18					15																	83735727		2166	4248	6414	SO:0001819	synonymous_variant	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.177C>T	15.37:g.83735727G>A			A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.F59	ENST00000261721.4	37	c.177	CCDS10322.1	15																																																																																			BTBD1	-	superfamily_BTB/POZ_fold		0.716	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	G			83735727	-1	no_errors	ENST00000261721	ensembl	human	known	70_37	silent	SNP	1.000	A	A	83735727	G	A	83735727	2	1	50	1	0	0	0	0	0	0	0	1	1540	1049	37	1		1	BTBD1	15	83735727	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	5418966	83735727	18795665	168	6818										
AKAP13	11214	genome.wustl.edu	37	chr15	86286834	86286834	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aatcagggtcattggactcaGaactttcagtgtccccaaaa	8	10	4	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:86286834G>A	ENST00000394518.2	+	36	8265	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E2728K|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.E969K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2724	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTGGACTCAGAACTTTCAGT	0.507																																					Melanoma(94;603 1453 3280 32295 32951)												0													155	160	158					15																	86286834		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8170G>A	15.37:g.86286834G>A	ENSP00000378026:p.Glu2724Lys		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E2728K	ENST00000394518.2	37	c.8182	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428442	0.43122	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.53857	0.6;0.6;0.6	5.73	5.73	0.89815	.	.	.	.	.	T	0.54935	0.1889	M	0.63843	1.955	0.38749	D	0.954062	P;P	0.43231	0.7;0.801	B;B	0.39935	0.166;0.314	T	0.63743	-0.6568	9	0.66056	D	0.02	.	18.9014	0.92444	0.0:0.0:1.0:0.0	.	2724;2728	Q12802;Q12802-2	AKP13_HUMAN;.	K	2728;2724;2727;2703;969	ENSP00000354718:E2728K;ENSP00000378026:E2724K;ENSP00000378018:E969K	ENSP00000354718:E2728K	E	+	1	0	AKAP13	84087838	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	7.223000	0.78033	2.721000	0.93114	0.655000	0.94253	GAA	AKAP13	-	NULL		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86286834	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86286834	G	A	86286834	3	1	50	1	0	0	0	0	1	0	0	0	449	943	33	1	8378	1	AKAP13	15	86286834	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2551107	86286834	16244558	169	6819										
C16orf42	84572	genome.wustl.edu	37	chr16	1400917	1400917	+	5'Flank	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcaacaggcgcaagtggctCcctcgcatcttcccaaacgg	11	15	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:1400917C>A	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Silent_p.G139G	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCAAGTGGCTCCCTCGCATCT	0.637																																																	0													79	74	76					16																	1400917		2199	4300	6499	SO:0001631	upstream_gene_variant	115939			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400917C>A	Exception_encountered		B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom	p.G139	ENST00000204679.4	37	c.417	CCDS10436.1	16																																																																																			TSR3	-	pfam_DUF367		0.637	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR3	HGNC	protein_coding	OTTHUMT00000109058.2	C	NM_032520		1400917	-1	no_errors	ENST00000007390	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1400917	C	A	1400917	1	1	50	0	1	0	0	0	0	0	0	0	1817	842	30	3		3	C16orf42	16	1400917	5'Flank	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		1400917	88953836	170	6820										
A2BP1	54715	genome.wustl.edu	37	chr16	7657297	7657297	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgttttaaggctggaaattGaatccagttgtgggtgcagt	13	4	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:7657297G>C	ENST00000550418.1	+	10	1621	c.633G>C	c.(631-633)ttG>ttC	p.L211F	RBFOX1_ENST00000553186.1_Missense_Mutation_p.L211F|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L216F|RBFOX1_ENST00000436368.2_Missense_Mutation_p.L231F|RBFOX1_ENST00000547372.1_Missense_Mutation_p.L254F|RBFOX1_ENST00000552089.1_Missense_Mutation_p.L228F|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L231F|RBFOX1_ENST00000422070.4_Missense_Mutation_p.L254F|RBFOX1_ENST00000355637.4_Missense_Mutation_p.L231F|RBFOX1_ENST00000535565.2_Missense_Mutation_p.L168F|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L211F	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	211					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCTGGAAATTGAATCCAGTTG	0.348																																					Ovarian(157;934 2567 15163 39509)												0													187	171	176					16																	7657297		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.633G>C	16.37:g.7657297G>C	ENSP00000450031:p.Leu211Phe		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.L254F	ENST00000550418.1	37	c.762	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765733	0.69878	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.37584	1.71;1.19;1.65;1.47;1.48;1.61;1.19;1.29;1.45;1.45;1.2	5.59	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.49778	1.585	0.48830	D	0.999712	P;D;D;D;P;D;P;D;P	0.89917	0.946;1.0;0.967;0.999;0.917;0.999;0.949;0.991;0.746	P;D;P;D;P;D;P;D;P	0.87578	0.691;0.998;0.701;0.977;0.793;0.994;0.807;0.944;0.661	T	0.44682	-0.9312	10	0.39692	T	0.17	-6.6458	9.6906	0.40125	0.1708:0.0:0.8292:0.0	.	231;168;254;231;231;231;211;211;254	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	F	210;211;211;254;254;168;228;211;211;231;231;231;231;216	ENSP00000450402:L210F;ENSP00000450031:L211F;ENSP00000447753:L211F;ENSP00000446842:L254F;ENSP00000391269:L254F;ENSP00000447281:L211F;ENSP00000447717:L211F;ENSP00000402745:L231F;ENSP00000309117:L231F;ENSP00000347855:L231F;ENSP00000344196:L216F	ENSP00000309117:L231F	L	+	3	2	RBFOX1	7597298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.270000	0.51600	1.345000	0.45676	0.650000	0.86243	TTG	RBFOX1	-	pirsf_RNA-bd_Fox-1		0.348	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		7657297	1	no_errors	ENST00000547372	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7657297	G	C	7657297	3	2	50	1	0	0	0	0	1	0	0	0	3	1281	45	1	750	1	A2BP1	16	7657297	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	6256380	7657297	82697456	171	6821										
SMG1	23049	genome.wustl.edu	37	chr16	18846284	18846284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccttcttctccattctcatGaaggaaaactttaatgcaac	4	11	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:18846284G>T	ENST00000446231.2	-	49	8672	c.8260C>A	c.(8260-8262)Cat>Aat	p.H2754N	SMG1_ENST00000389467.3_Missense_Mutation_p.H2754N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2754					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATTCTCATGAAGGAAAACT	0.383																																																	0													208	198	201					16																	18846284		1899	4123	6022	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8260C>A	16.37:g.18846284G>T	ENSP00000402515:p.His2754Asn		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.H2754N	ENST00000446231.2	37	c.8260	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693844	0.48202	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01025	5.43;5.43	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.00815	0.0027	N	0.14661	0.345	0.34945	D	0.75069	P	0.43477	0.808	B	0.27887	0.084	T	0.73036	-0.4109	10	0.48119	T	0.1	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	2754	Q96Q15	SMG1_HUMAN	N	2754	ENSP00000402515:H2754N;ENSP00000374118:H2754N	ENSP00000374118:H2754N	H	-	1	0	SMG1	18753785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.180000	0.71981	2.810000	0.96702	0.585000	0.79938	CAT	SMG1	-	superfamily_ARM-type_fold		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18846284	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18846284	G	T	18846284	3	4	50	1	0	0	0	0	1	0	0	0	14825	1290	45	3	2785	3	SMG1	16	18846284	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	11188987	18846284	71508469	172	6822										
CD2BP2	10421	genome.wustl.edu	37	chr16	30365041	30365041	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccaagagggcttgggcactCattgaggtctggcccaagct	13	11	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:30365041C>T	ENST00000305596.3	-	5	631	c.456G>A	c.(454-456)atG>atA	p.M152I	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.M152I	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	152					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTTGGGCACTCATTGAGGTCT	0.622																																																	0													18	19	19					16																	30365041		2193	4293	6486	SO:0001583	missense	10421			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.456G>A	16.37:g.30365041C>T	ENSP00000304903:p.Met152Ile		B2RDX2|Q9ULP2	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.M152I	ENST00000305596.3	37	c.456	CCDS10675.1	16	.	.	.	.	.	.	.	.	.	.	c	10.69	1.422166	0.25639	.	.	ENSG00000169217	ENST00000305596	T	0.27720	1.65	5.06	5.06	0.68205	.	0.164696	0.56097	D	0.000037	T	0.16471	0.0396	N	0.11927	0.2	0.34196	D	0.672566	B	0.09022	0.002	B	0.04013	0.001	T	0.20472	-1.0274	10	0.16420	T	0.52	0.0014	11.4727	0.50280	0.0:0.9127:0.0:0.0873	.	152	O95400	CD2B2_HUMAN	I	152	ENSP00000304903:M152I	ENSP00000304903:M152I	M	-	3	0	CD2BP2	30272542	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.150000	0.50662	2.335000	0.79485	0.655000	0.94253	ATG	CD2BP2	-	NULL		0.622	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2BP2	HGNC	protein_coding	OTTHUMT00000255528.1	C	NM_006110		30365041	-1	no_errors	ENST00000305596	ensembl	human	known	70_37	missense	SNP	0.992	T	T	30365041	C	T	30365041	3	4	50	1	0	0	0	0	1	0	0	0	3000	826	29	1	581	1	CD2BP2	16	30365041	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	11518757	30365041	59989712	173	6823										
MYLPF	1731	genome.wustl.edu	37	chr16	30388990	30388990	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccagcctggaggagctgctGaccacgcagtgtgaccgctt	13	13	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:30388990G>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Silent_p.L124L			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGGAGCTGCTGACCACGCAGT	0.667																																																	0													56	45	48					16																	30388990		2197	4300	6497	SO:0001628	intergenic_variant	29895			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30388990G>A			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L124	ENST00000571393.1	37	c.372		16																																																																																			MYLPF	-	smart_EF_hand_Ca-bd		0.667	SEPT1-201	KNOWN	basic	protein_coding	MYLPF	HGNC	protein_coding		G	NM_052838		30388990	1	no_errors	ENST00000322861	ensembl	human	known	70_37	silent	SNP	0.337	A	A	30388990	G	A	30388990	1	1	50	0	1	0	0	0	0	0	0	0	10083	1277	45	1		1	MYLPF	16	30388990	IGR	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	23949	30388990	59965763	174	6824										
ADCY7	113	genome.wustl.edu	37	chr16	50344639	50344639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgggcttcatcgcctgctcGgtcttcctgaggatgagcct	12	13	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:50344639G>A	ENST00000394697.2	+	19	2542	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S	ADCY7_ENST00000254235.3_Silent_p.S734S			P51828	ADCY7_HUMAN	adenylate cyclase 7	734					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCGCCTGCTCGGTCTTCCTGA	0.627																																																	0													112	80	91					16																	50344639		2198	4300	6498	SO:0001819	synonymous_variant	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2202G>A	16.37:g.50344639G>A			A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S734	ENST00000394697.2	37	c.2202	CCDS10741.1	16																																																																																			ADCY7	-	NULL		0.627	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	G			50344639	1	no_errors	ENST00000254235	ensembl	human	known	70_37	silent	SNP	0.018	A	A	50344639	G	A	50344639	2	1	50	1	0	0	0	0	0	0	0	1	299	1103	39	2		2	ADCY7	16	50344639	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	19955649	50344639	40010114	175	6825										
TCF25	22980	genome.wustl.edu	37	chr16	89961512	89961512	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tcagcgatgcctgccgctttCaagaggatcaggagatggct	13	10	3	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:89961512C>T	ENST00000263346.8	+	8	951	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	TCF25_ENST00000263347.7_Nonsense_Mutation_p.Q64*	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	299					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTGCCGCTTTCAAGAGGATCA	0.592																																																	0													65	54	58					16																	89961512		2198	4300	6498	SO:0001587	stop_gained	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.895C>T	16.37:g.89961512C>T	ENSP00000263346:p.Gln299*		Q2MK75|Q9UPV3	Nonsense_Mutation	SNP	pfam_TCF25	p.Q299*	ENST00000263346.8	37	c.895	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.846413	0.97016	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.3238	0.90246	0.0:1.0:0.0:0.0	.	.	.	.	X	299;64	.	ENSP00000263346:Q299X	Q	+	1	0	TCF25	88489013	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.829000	0.75314	2.568000	0.86640	0.561000	0.74099	CAA	TCF25	-	pfam_TCF25		0.592	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	C	NM_014972		89961512	1	no_errors	ENST00000263346	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	89961512	C	T	89961512	4	4	50	1	0	0	0	0	0	1	0	0	15723	827	29	1	925	1	TCF25	16	89961512	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	39616873	89961512	393241	176	6826										
ZNF594	84622	genome.wustl.edu	37	chr17	5085838	5085838	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctggaaagccctaccacactGattacaccaataagctttcg	6	13	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:5085838G>A	ENST00000399604.4	-	1	1854	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.Q572*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTACCACACTGATTACACCAA	0.443																																																	0													142	133	136					17																	5085838		1996	4191	6187	SO:0001587	stop_gained	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1714C>T	17.37:g.5085838G>A	ENSP00000382513:p.Gln572*		Q6RFS0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q572*	ENST00000399604.4	37	c.1714	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	g	18.87	3.716095	0.68844	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	.	.	.	0.972	0.972	0.19704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.1589	0.10273	0.0:0.0:0.6013:0.3987	.	.	.	.	X	572;167	.	ENSP00000373874:Q167X	Q	-	1	0	ZNF594	5026562	0.000000	0.05858	0.007000	0.13788	0.088000	0.18126	-1.008000	0.03663	0.443000	0.26582	0.184000	0.17185	CAG	ZNF594	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	G	XM_290737		5085838	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	nonsense	SNP	0.007	A	A	5085838	G	A	5085838	4	1	50	1	0	0	0	0	0	1	0	0	18054	1299	45	1	713	1	ZNF594	17	5085838	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		5085838	76109372	177	6827										
ALOX12	239	genome.wustl.edu	37	chr17	6909857	6909857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aaagggatgacatagtgaagGgggaccctgagctgcaggcc	16	8	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:6909857G>T	ENST00000251535.6	+	11	1524	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	491	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CATAGTGAAGGGGGACCCTGA	0.597																																																	0													83	82	82					17																	6909857		2203	4300	6503	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1471G>T	17.37:g.6909857G>T	ENSP00000251535:p.Gly491Trp		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.G491W	ENST00000251535.6	37	c.1471	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774019	0.49786	.	.	ENSG00000108839	ENST00000251535	T	0.07567	3.18	4.2	-0.106	0.13596	Lipoxygenase, C-terminal (3);	0.495379	0.21370	N	0.075652	T	0.14227	0.0344	L	0.57536	1.79	0.36068	D	0.841946	D	0.59767	0.986	P	0.58391	0.838	T	0.18587	-1.0332	10	0.72032	D	0.01	-0.3255	3.4868	0.07622	0.3326:0.1973:0.4701:0.0	.	491	P18054	LOX12_HUMAN	W	491	ENSP00000251535:G491W	ENSP00000251535:G491W	G	+	1	0	ALOX12	6850581	0.003000	0.15002	0.938000	0.37757	0.632000	0.37999	0.212000	0.17497	0.165000	0.19558	0.484000	0.47621	GGG	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C		0.597	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	G			6909857	1	no_errors	ENST00000251535	ensembl	human	known	70_37	missense	SNP	0.733	T	T	6909857	G	T	6909857	3	4	50	1	0	0	0	0	1	0	0	0	536	1232	43	4	1513	4	ALOX12	17	6909857	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1824019	6909857	74285353	178	6828										
MYH13	8735	genome.wustl.edu	37	chr17	10219250	10219250	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agtcttgctttctgcatgttCagatcatggatcaactgtgt	9	8	5	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:10219250C>G	ENST00000418404.3	-	27	3994	c.3831G>C	c.(3829-3831)ctG>ctC	p.L1277L	MYH13_ENST00000252172.4_Silent_p.L1277L|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1277					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGCATGTTCAGATCATGGA	0.493																																																	0													235	231	232					17																	10219250		2012	4172	6184	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3831G>C	17.37:g.10219250C>G			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1277	ENST00000418404.3	37	c.3831	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail,superfamily_Prefoldin		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10219250	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	1.000	G	G	10219250	C	G	10219250	2	3	50	1	0	0	0	0	0	0	0	1	10055	813	29	1		1	MYH13	17	10219250	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3309393	10219250	70975960	179	6829										
SMCR7	125170	genome.wustl.edu	37	chr17	18167278	18167278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tctacgacgggctgcaggcgGgggctgcggaccatgtgcgt	18	11	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:18167278G>T	ENST00000323019.4	+	4	776	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.G200W|MIEF2_ENST00000395704.4_Missense_Mutation_p.G164V	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	189					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GCTGCAGGCGGGGGCTGCGGA	0.697																																																	0													10	11	10					17																	18167278		2178	4273	6451	SO:0001583	missense	125170			BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.565G>T	17.37:g.18167278G>T	ENSP00000323591:p.Gly189Trp		J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	NULL	p.G189W	ENST00000323019.4	37	c.565	CCDS11193.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.919|1.919	-0.448705|-0.448705	0.04572|0.04572	.|.	.|.	ENSG00000177427|ENSG00000177427	ENST00000395704|ENST00000323019;ENST00000395706	T|T;T	0.44083|0.11821	0.93|2.75;2.74	5.31|5.31	3.28|3.28	0.37604|0.37604	.|.	0.659631|0.659631	0.15390|0.15390	N|N	0.264880|0.264880	T|T	0.22399|0.22399	0.0540|0.0540	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|D	0.30146|0.63880	0.27|0.993	B|P	0.32805|0.55923	0.153|0.787	T|T	0.10800|0.10800	-1.0614|-1.0614	9|9	0.28530|0.72032	T|D	0.3|0.01	-24.9392|-24.9392	4.5837|4.5837	0.12271|0.12271	0.0814:0.3007:0.4796:0.1384|0.0814:0.3007:0.4796:0.1384	.|.	164|189	Q96C03-2|Q96C03	.|MID49_HUMAN	V|W	164|189;200	ENSP00000379056:G164V|ENSP00000323591:G189W;ENSP00000379057:G200W	ENSP00000379056:G164V|ENSP00000323591:G189W	G|G	+|+	2|1	0|0	SMCR7|SMCR7	18108003|18108003	0.913000|0.913000	0.31002|0.31002	0.003000|0.003000	0.11579|0.11579	0.015000|0.015000	0.08874|0.08874	1.546000|1.546000	0.36179|0.36179	0.596000|0.596000	0.29794|0.29794	0.558000|0.558000	0.71614|0.71614	GGG|GGG	SMCR7	-	NULL		0.697	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7	HGNC	protein_coding	OTTHUMT00000132060.2	G	NM_139162		18167278	1	no_errors	ENST00000323019	ensembl	human	known	70_37	missense	SNP	0.001	T	T	18167278	G	T	18167278	3	4	50	1	0	0	0	0	1	0	0	0	14820	1232	43	4	612	4	SMCR7	17	18167278	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7948028	18167278	63027932	180	6830										
KAT2A	2648	genome.wustl.edu	37	chr17	40271595	40271595	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggtagccacgtcctcagcctGagacctctgccgaaactggg	12	14	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:40271595G>A	ENST00000225916.5	-	5	894	c.841C>T	c.(841-843)Cag>Tag	p.Q281*		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	281					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTCAGCCTGAGACCTCTGC	0.592																																																	0													74	72	72					17																	40271595		2203	4300	6503	SO:0001587	stop_gained	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.841C>T	17.37:g.40271595G>A	ENSP00000225916:p.Gln281*		Q8N1A2|Q9UCW1	Nonsense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.Q281*	ENST00000225916.5	37	c.841	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.361460	0.97507	.	.	ENSG00000108773	ENST00000225916	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-13.5231	18.8086	0.92048	0.0:0.0:1.0:0.0	.	.	.	.	X	281	.	ENSP00000225916:Q281X	Q	-	1	0	KAT2A	37525121	1.000000	0.71417	0.567000	0.28434	0.996000	0.88848	9.869000	0.99810	2.438000	0.82558	0.555000	0.69702	CAG	KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N		0.592	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	G	NM_021078		40271595	-1	no_errors	ENST00000225916	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	40271595	G	A	40271595	4	1	50	1	0	0	0	0	0	1	0	0	8001	1299	45	1	1728	1	KAT2A	17	40271595	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	22104317	40271595	40923615	181	6831										
PLCD3	113026	genome.wustl.edu	37	chr17	43198400	43198400	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttgcggcggcccttgaaggcGatggtgaggcagcgcgctgg	19	10	0	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:43198400G>A	ENST00000322765.5	-	3	536	c.423C>T	c.(421-423)atC>atT	p.I141I	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	141	PH.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCTTGAAGGCGATGGTGAGGC	0.731																																																	0													3	5	4					17																	43198400		1721	3679	5400	SO:0001819	synonymous_variant	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.423C>T	17.37:g.43198400G>A			Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.I141	ENST00000322765.5	37	c.423		17																																																																																			PLCD3	-	smart_Pleckstrin_homology		0.731	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		G	NM_133373		43198400	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43198400	G	A	43198400	2	1	50	1	0	0	0	0	0	0	0	1	12056	1048	37	1		1	PLCD3	17	43198400	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2926805	43198400	37996810	182	6832										
NPEPPS	9520	genome.wustl.edu	37	chr17	45662986	45662986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgggtgaatatgactttgtaGaaacaaggtcaaaagatggt	12	3	1	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:45662986G>A	ENST00000322157.4	+	6	1006	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	NPEPPS_ENST00000544660.1_Missense_Mutation_p.E177K|NPEPPS_ENST00000530173.1_Missense_Mutation_p.E253K|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	257					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGACTTTGTAGAAACAAGGTC	0.413																																																	0													180	168	171					17																	45662986		1871	4107	5978	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.769G>A	17.37:g.45662986G>A	ENSP00000320324:p.Glu257Lys		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E257K	ENST00000322157.4	37	c.769	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.231690	0.95207	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.03004	4.08;4.08;4.08	5.52	5.52	0.82312	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.049194	0.85682	D	0.000000	T	0.17619	0.0423	M	0.81239	2.535	0.80722	D	1	P;P;P	0.52692	0.955;0.74;0.571	P;P;P	0.57371	0.819;0.457;0.457	T	0.00108	-1.2050	10	0.51188	T	0.08	.	19.4252	0.94739	0.0:0.0:1.0:0.0	.	257;253;257	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	K	253;257;244;177	ENSP00000433287:E253K;ENSP00000320324:E257K;ENSP00000442461:E177K	ENSP00000320324:E257K	E	+	1	0	NPEPPS	43017985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.852000	0.99516	2.600000	0.87896	0.650000	0.86243	GAA	NPEPPS	-	pfam_Peptidase_M1_N		0.413	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	G	NM_006310		45662986	1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45662986	G	A	45662986	3	1	50	1	0	0	0	0	1	0	0	0	10599	943	33	1	791	1	NPEPPS	17	45662986	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2464586	45662986	35532224	183	6833										
NPEPPS	9520	genome.wustl.edu	37	chr17	45663580	45663580	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cttatcctctacctaaaattGatctcattgctattgcagac	4	11	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:45663580G>C	ENST00000322157.4	+	7	1153	c.916G>C	c.(916-918)Gat>Cat	p.D306H	NPEPPS_ENST00000544660.1_Missense_Mutation_p.D226H|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D302H|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	306					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTAAAATTGATCTCATTGC	0.294																																																	0													3	2	3					17																	45663580		1143	2396	3539	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.916G>C	17.37:g.45663580G>C	ENSP00000320324:p.Asp306His		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D306H	ENST00000322157.4	37	c.916	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953765	0.73902	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.03663	3.85;3.85;3.85	5.71	5.71	0.89125	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01848	-1.1261	10	0.87932	D	0	.	19.8494	0.96733	0.0:0.0:1.0:0.0	.	306;302;306	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	H	302;306;293;226	ENSP00000433287:D302H;ENSP00000320324:D306H;ENSP00000442461:D226H	ENSP00000320324:D306H	D	+	1	0	NPEPPS	43018579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.705000	0.92388	0.585000	0.79938	GAT	NPEPPS	-	pfam_Peptidase_M1_N		0.294	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	G	NM_006310		45663580	1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45663580	G	C	45663580	3	2	50	1	0	0	0	0	1	0	0	0	10599	1290	45	1	942	1	NPEPPS	17	45663580	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	594	45663580	35531630	184	6834										
PHOSPHO1	162466	genome.wustl.edu	37	chr17	47302015	47302015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtggtggccggcggcgcgcaGcgagctctccacgccaaagg	17	14	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:47302015G>A	ENST00000310544.4	-	3	524	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	PHOSPHO1_ENST00000514112.1_Silent_p.L158L|PHOSPHO1_ENST00000413580.1_Silent_p.L158L			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	133					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GCGGCGCGCAGCGAGCTCTCC	0.662																																																	0													15	16	16					17																	47302015		2190	4291	6481	SO:0001819	synonymous_variant	162466			AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.397C>T	17.37:g.47302015G>A			E9PAM0|Q17RU6	Silent	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.L158	ENST00000310544.4	37	c.472	CCDS11547.1	17																																																																																			PHOSPHO1	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.662	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO1	HGNC	protein_coding	OTTHUMT00000364467.2	G			47302015	-1	no_errors	ENST00000413580	ensembl	human	known	70_37	silent	SNP	0.981	A	A	47302015	G	A	47302015	2	1	50	1	0	0	0	0	0	0	0	1	11880	962	34	4		4	PHOSPHO1	17	47302015	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1638435	47302015	33893195	185	6835										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892990	62892990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgtcctttaaatcctgctgtGaagccaagaactgctctggc	9	11	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:62892990G>A	ENST00000584306.1	-	3	916	c.386C>T	c.(385-387)tCa>tTa	p.S129L	RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S129L|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	129						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTGCTGTGAAGCCAAGAA	0.547																																																	0													13	21	18					17																	62892990		1295	3088	4383	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.386C>T	17.37:g.62892990G>A	ENSP00000464535:p.Ser129Leu		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S129L	ENST00000584306.1	37	c.386	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	2.585	-0.296473	0.05532	.	.	ENSG00000176809	ENST00000319651	T	0.60672	0.17	1.64	-0.537	0.11872	.	.	.	.	.	T	0.29716	0.0742	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14727	-1.0462	9	0.25106	T	0.35	.	4.0593	0.09831	0.4253:0.0:0.5747:0.0	.	129	O60309	L37A3_HUMAN	L	129	ENSP00000325713:S129L	ENSP00000325713:S129L	S	-	2	0	LRRC37A3	60323452	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.067000	0.11579	-0.108000	0.12066	0.162000	0.16502	TCA	LRRC37A3	-	NULL		0.547	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62892990	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	A	A	62892990	G	A	62892990	3	1	50	1	0	0	0	0	1	0	0	0	9016	1294	45	1	4566	1	LRRC37A3	17	62892990	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	15590975	62892990	18302220	186	6836										
JMJD6	23210	genome.wustl.edu	37	chr17	74719994	74719994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gctggttccctccttcgtctCgggtcactttgatgagttcc	10	13	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:74719994C>T	ENST00000397625.4	-	3	779	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.R222Q|JMJD6_ENST00000445478.2_Missense_Mutation_p.R222Q|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	222	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCTTCGTCTCGGGTCACTTT	0.537																																																	0													138	133	135					17																	74719994		1940	4139	6079	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.665G>A	17.37:g.74719994C>T	ENSP00000380750:p.Arg222Gln		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R222Q	ENST00000397625.4	37	c.665	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041903	0.35989	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.72167	-0.63;-0.63	5.31	5.31	0.75309	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.190862	0.46758	D	0.000265	T	0.65668	0.2713	M	0.64997	1.995	0.80722	D	1	B;P;B	0.36199	0.405;0.543;0.027	B;B;B	0.29440	0.102;0.053;0.008	T	0.64824	-0.6316	10	0.15066	T	0.55	-2.4777	18.9871	0.92775	0.0:1.0:0.0:0.0	.	222;222;222	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	Q	222	ENSP00000394085:R222Q;ENSP00000380750:R222Q	ENSP00000302916:R222Q	R	-	2	0	JMJD6	72231589	1.000000	0.71417	0.979000	0.43373	0.185000	0.23345	7.807000	0.86032	2.473000	0.83533	0.643000	0.83706	CGA	JMJD6	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.537	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	C	NM_015167		74719994	-1	no_errors	ENST00000445478	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74719994	C	T	74719994	3	4	50	1	0	0	0	0	1	0	0	0	7973	884	31	1	603	1	JMJD6	17	74719994	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	11827004	74719994	6475216	187	6837										
CHMP6	79643	genome.wustl.edu	37	chr17	78970822	78970822	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cacaggtgatgtccattgaaGaggtggagaggatcctggac	15	7	0	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:78970822G>C	ENST00000325167.5	+	5	442	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	122					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTCCATTGAAGAGGTGGAGAG	0.642																																																	0													87	83	85					17																	78970822		2203	4300	6503	SO:0001583	missense	79643			BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"Charged multivesicular body proteins"	25675	protein-coding gene	gene with protein product		610901	"chromatin modifying protein 6"			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.364G>C	17.37:g.78970822G>C	ENSP00000317468:p.Glu122Gln		A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	pfam_Snf7	p.E122Q	ENST00000325167.5	37	c.364	CCDS11774.1	17	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284508	0.59867	.	.	ENSG00000176108	ENST00000325167	T	0.71222	-0.55	4.14	4.14	0.48551	.	0.164825	0.52532	D	0.000078	D	0.84051	0.5387	M	0.86953	2.85	0.80722	D	1	D	0.61697	0.99	D	0.64595	0.927	D	0.84716	0.0737	10	0.30078	T	0.28	-12.3481	16.0393	0.80651	0.0:0.0:1.0:0.0	.	122	Q96FZ7	CHMP6_HUMAN	Q	122	ENSP00000317468:E122Q	ENSP00000317468:E122Q	E	+	1	0	CHMP6	76585417	1.000000	0.71417	0.982000	0.44146	0.298000	0.27526	9.031000	0.93731	1.850000	0.53721	0.549000	0.68633	GAG	CHMP6	-	pfam_Snf7		0.642	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP6	HGNC	protein_coding	OTTHUMT00000438215.1	G	NM_024591		78970822	1	no_errors	ENST00000325167	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78970822	G	C	78970822	3	2	50	1	0	0	0	0	1	0	0	0	3365	943	33	1	382	1	CHMP6	17	78970822	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	4250828	78970822	2224388	188	6838										
AATK	9625	genome.wustl.edu	37	chr17	79093812	79093812	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcgctgggagagccggggctCcccctaaggaacgtaggggg	19	11	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:79093812C>T	ENST00000326724.4	-	12	3831	c.3807G>A	c.(3805-3807)ggG>ggA	p.G1269G	AATK_ENST00000417379.1_Silent_p.G1166G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1269					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCCGGGGCTCCCCCTAAGGA	0.701																																																	0													5	6	6					17																	79093812		1498	3487	4985	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3807G>A	17.37:g.79093812C>T			O75136|Q6ZN31|Q86X28	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1269	ENST00000326724.4	37	c.3807	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	4.566	0.105052	0.08731	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.45	-3.39	0.04868	.	0.197783	0.32970	N	0.005421	T	0.24353	0.0590	.	.	.	0.21652	N	0.999606	.	.	.	.	.	.	T	0.15321	-1.0441	6	0.44086	T	0.13	.	2.8193	0.05467	0.1641:0.399:0.3056:0.1313	.	.	.	.	E	1222	.	ENSP00000398796:G1222E	G	-	2	0	AATK	76708407	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.298000	0.08265	-0.755000	0.04709	-0.802000	0.03209	GGA	AATK	-	NULL		0.701	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79093812	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	silent	SNP	0.018	T	T	79093812	C	T	79093812	2	4	50	1	0	0	0	0	0	0	0	1	26	842	30	1		1	AATK	17	79093812	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	122990	79093812	2101398	189	6839										
SLC38A10	124565	genome.wustl.edu	37	chr17	79225149	79225149	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aagggagcagaaagctctccGaggggtctgctcagcaggcg	16	10	3	1	rs200982751		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:79225149G>A	ENST00000374759.3	-	14	2449				SLC38A10_ENST00000288439.5_Missense_Mutation_p.R737W	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10						amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAAGCTCTCCGAGGGGTCTGC	0.622																																																	0								G	,TRP/ARG	0,4396		0,0,2198	24	32	29		,2209	-4.2	0	17		29	1,8587		0,1,4293	no	intron,missense	SLC38A10	NM_001037984.1,NM_138570.2	,101	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	,	,737/781	79225149	1,12983	2198	4294	6492	SO:0001627	intron_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2065+143C>T	17.37:g.79225149G>A			Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R737W	ENST00000374759.3	37	c.2209	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042584	0.35989	0.0	1.16E-4	ENSG00000157637	ENST00000288439	T	0.13307	2.6	2.11	-4.23	0.03789	.	.	.	.	.	T	0.04998	0.0134	.	.	.	0.09310	N	1	D	0.54207	0.965	B	0.28553	0.091	T	0.23976	-1.0173	8	0.87932	D	0	.	0.9834	0.01441	0.2306:0.3387:0.2626:0.1681	.	737	Q9HBR0-2	.	W	737	ENSP00000288439:R737W	ENSP00000288439:R737W	R	-	1	2	SLC38A10	76839744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.006000	0.01459	-1.110000	0.02992	-0.397000	0.06425	CGG	SLC38A10	-	NULL		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	G	NM_138570		79225149	-1	no_errors	ENST00000288439	ensembl	human	known	70_37	missense	SNP	0.000	A	A	79225149	G	A	79225149	1	1	50	0	1	0	0	0	0	0	0	0	14632	1057	37	1		1	SLC38A10	17	79225149	Intron	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	131337	79225149	1970061	190	6840										
DYM	54808	genome.wustl.edu	37	chr18	46808458	46808458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agaggagagttgcttgatcaGatgtctgctgttcacaaaga	12	6	3	5			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr18:46808458G>A	ENST00000269445.6	-	10	1491	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	DYM_ENST00000442713.2_Missense_Mutation_p.S155F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	345					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGCTTGATCAGATGTCTGCTG	0.388																																																	0													125	116	119					18																	46808458		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1034C>T	18.37:g.46808458G>A	ENSP00000269445:p.Ser345Phe		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.S345F	ENST00000269445.6	37	c.1034	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921895	0.73213	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	T;D	0.82619	0.83;-1.63	5.53	5.53	0.82687	.	0.149747	0.64402	D	0.000006	D	0.90167	0.6927	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.996	P;D;P	0.70016	0.864;0.967;0.897	D	0.88234	0.2905	10	0.37606	T	0.19	-12.7628	19.8787	0.96886	0.0:0.0:1.0:0.0	.	155;167;345	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	F	155;345	ENSP00000395942:S155F;ENSP00000269445:S345F	ENSP00000269445:S345F	S	-	2	0	DYM	45062456	1.000000	0.71417	0.741000	0.31004	0.925000	0.55904	7.811000	0.86092	2.776000	0.95493	0.579000	0.79373	TCT	DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold		0.388	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	G	NM_017653		46808458	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46808458	G	A	46808458	3	1	50	1	0	0	0	0	1	0	0	0	4850	942	33	1	1007	1	DYM	18	46808458	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		46808458	31268790	191	6841										
CXXC1	30827	genome.wustl.edu	37	chr18	47810933	47810933	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cgcttgtatcgctcctccttCtgttgagcaagacaagtcag	9	12	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr18:47810933C>A	ENST00000285106.6	-	9	1735		c.e9-1		CXXC1_ENST00000412036.2_Splice_Site|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000382948.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCTCCTCCTTCTGTTGAGCAA	0.567																																																	0													140	140	140					18																	47810933		2203	4300	6503	SO:0001630	splice_region_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1021-1G>T	18.37:g.47810933C>A			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	-	e9-1	ENST00000285106.6	37	c.1033-1	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253594	0.39797	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0894	0.64980	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXXC1	46064931	1.000000	0.71417	0.995000	0.50966	0.567000	0.35839	7.089000	0.76909	1.985000	0.57927	0.478000	0.44815	.	CXXC1	-	-		0.567	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593	Intron	47810933	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	47810933	C	A	47810933	5	1	50	1	0	0	0	0	0	0	1	0	4102	927	32	3	978	3	CXXC1	18	47810933	Splice_Site	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	1002475	47810933	30266315	192	6842										
CIRBP	1153	genome.wustl.edu	37	chr19	1271012	1271012	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtcgctggagcaggtcttctCaaagtacggacagatctctg	12	10	3	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:1271012C>T	ENST00000588030.1	+	2	340	c.80C>T	c.(79-81)tCa>tTa	p.S27L	CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000587323.1_Missense_Mutation_p.S27L|CIRBP_ENST00000320936.5_Missense_Mutation_p.S27L|CIRBP_ENST00000444172.2_Nonsense_Mutation_p.Q10*|CIRBP_ENST00000586472.1_Missense_Mutation_p.S27L|CIRBP_ENST00000586773.1_Missense_Mutation_p.S27L|CIRBP_ENST00000588230.1_Missense_Mutation_p.S27L|CIRBP_ENST00000587896.1_Missense_Mutation_p.S27L|CIRBP_ENST00000413636.2_Missense_Mutation_p.S27L|CIRBP_ENST00000585630.1_Missense_Mutation_p.S27L|CIRBP_ENST00000588090.1_Missense_Mutation_p.S27L|CIRBP_ENST00000589660.1_Missense_Mutation_p.S27L|CIRBP_ENST00000589710.1_Missense_Mutation_p.S27L|CIRBP_ENST00000589686.1_Missense_Mutation_p.S27L|CIRBP_ENST00000591935.1_Missense_Mutation_p.S27L|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589235.1_Missense_Mutation_p.S27L			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTCTTCTCAAAGTACGGA	0.592																																																	0													143	147	146					19																	1271012		2203	4300	6503	SO:0001583	missense	1153			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"RNA binding motif (RRM) containing"	1982	protein-coding gene	gene with protein product	"Cold-inducible RNA-binding protein", "glycine-rich RNA binding protein"	602649	"cold inducible RNA-binding protein"			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.80C>T	19.37:g.1271012C>T	ENSP00000468788:p.Ser27Leu		B3KT17|B4E2X2	Nonsense_Mutation	SNP	NULL	p.Q10*	ENST00000588030.1	37	c.28	CCDS12059.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.00|17.00	3.276654|3.276654	0.59758|0.59758	.|.	.|.	ENSG00000099622|ENSG00000099622	ENST00000444172|ENST00000320936;ENST00000413636	.|D;D	.|0.85861	.|-2.04;-2.04	4.28|4.28	3.25|3.25	0.37280|0.37280	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.333855	.|0.27486	.|U	.|0.019156	.|D	.|0.89753	.|0.6806	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	A|A	1|1	.|D;D;D	.|0.64830	.|0.976;0.994;0.993	.|D;D;D	.|0.71870	.|0.93;0.975;0.975	.|D	.|0.90990	.|0.4834	.|9	0.87932|0.87932	D|D	0|0	-7.3418|-7.3418	6.859|6.859	0.24056|0.24056	0.0:0.7247:0.1777:0.0976|0.0:0.7247:0.1777:0.0976	.|.	.|27;27;27	.|B4E2X2;D6W5Y5;Q14011	.|.;.;CIRBP_HUMAN	X|L	10|27	.|ENSP00000322887:S27L;ENSP00000412831:S27L	ENSP00000407512:Q10X|ENSP00000322887:S27L	Q|S	+|+	1|2	0|0	CIRBP|CIRBP	1222012|1222012	0.999000|0.999000	0.42202|0.42202	0.291000|0.291000	0.24904|0.24904	0.011000|0.011000	0.07611|0.07611	3.896000|3.896000	0.56266|0.56266	0.793000|0.793000	0.33875|0.33875	0.563000|0.563000	0.77884|0.77884	CAA|TCA	CIRBP	-	NULL		0.592	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	C	NM_001280		1271012	1	no_errors	ENST00000444172	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	1271012	C	T	1271012	3	4	50	1	0	0	0	0	1	0	0	0	3438	838	29	1	82	1	CIRBP	19	1271012	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		1271012	57857971	193	6843										
TLE2	7089	genome.wustl.edu	37	chr19	3005538	3005538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agagccgagtgccgtaatcgGaaatatcaatgcagctggcg	13	9	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3005538G>A	ENST00000262953.6	-	17	2055	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	TLE2_ENST00000443826.3_Missense_Mutation_p.S476F|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.S612F|TLE2_ENST00000447365.2_Missense_Mutation_p.S265F|TLE2_ENST00000590536.1_Missense_Mutation_p.S599F|TLE2_ENST00000591529.1_Missense_Mutation_p.S612F|TLE2_ENST00000455444.2_Missense_Mutation_p.S476F	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	598					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTAATCGGAAATATCAAT	0.652																																																	0													49	55	53					19																	3005538		2063	4222	6285	SO:0001583	missense	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1793C>T	19.37:g.3005538G>A	ENSP00000262953:p.Ser598Phe		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S598F	ENST00000262953.6	37	c.1793	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329754	0.60743	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.36	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.28396	-1.0045	10	0.87932	D	0	-13.2649	14.7483	0.69505	0.0:0.0:1.0:0.0	.	476;265;612;476;598	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	F	598;476;147;592;265;476;612	ENSP00000262953:S598F;ENSP00000413107:S476F;ENSP00000406523:S265F;ENSP00000392427:S476F;ENSP00000392869:S612F	ENSP00000262953:S598F	S	-	2	0	TLE2	2956538	1.000000	0.71417	0.813000	0.32504	0.156000	0.22039	9.586000	0.98226	2.424000	0.82194	0.462000	0.41574	TCC	TLE2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	G	NM_003260		3005538	-1	no_errors	ENST00000262953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3005538	G	A	3005538	3	1	50	1	0	0	0	0	1	0	0	0	15969	1174	41	1	454	1	TLE2	19	3005538	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1734526	3005538	56123445	194	6844										
GNA11	2767	genome.wustl.edu	37	chr19	3119049	3119049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tcctggtggagtcggacaacGaggtgggccctgccctgagc	16	12	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3119049G>A	ENST00000078429.4	+	5	975	c.733G>A	c.(733-735)Gag>Aag	p.E245K	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	245					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTCGGACAACGAGGTGGGCCC	0.652			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	0													102	91	94					19																	3119049		2203	4300	6503	SO:0001583	missense	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.733G>A	19.37:g.3119049G>A	ENSP00000078429:p.Glu245Lys		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.E245K	ENST00000078429.4	37	c.733	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	11.17	1.560255	0.27827	.	.	ENSG00000088256	ENST00000078429	D	0.88354	-2.37	3.39	3.39	0.38822	.	0.079799	0.48286	U	0.000189	T	0.80869	0.4706	L	0.37850	1.14	0.47245	D	0.999363	P	0.43392	0.805	B	0.32864	0.154	T	0.81784	-0.0774	10	0.41790	T	0.15	.	13.7399	0.62840	0.0:0.0:1.0:0.0	.	245	P29992	GNA11_HUMAN	K	245	ENSP00000078429:E245K	ENSP00000078429:E245K	E	+	1	0	GNA11	3070049	1.000000	0.71417	0.936000	0.37596	0.028000	0.11728	5.450000	0.66626	1.620000	0.50308	0.457000	0.33378	GAG	GNA11	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.652	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	G	NM_002067		3119049	1	no_errors	ENST00000078429	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3119049	G	A	3119049	3	1	50	1	0	0	0	0	1	0	0	0	6518	1059	37	1	751	1	GNA11	19	3119049	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	113511	3119049	56009934	195	6845										
NCLN	56926	genome.wustl.edu	37	chr19	3193402	3193402	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cccaggctgcctccgcctccCagggctccgcctctgctgct	10	21	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3193402C>T	ENST00000246117.4	+	3	927	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	NCLN_ENST00000590671.1_Nonsense_Mutation_p.Q92*	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	166					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGCCTCCCAGGGCTCCGC	0.687																																																	0													47	39	42					19																	3193402		2202	4299	6501	SO:0001587	stop_gained	56926			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.496C>T	19.37:g.3193402C>T	ENSP00000246117:p.Gln166*		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Nonsense_Mutation	SNP	pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin	p.Q166*	ENST00000246117.4	37	c.496	CCDS32869.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.372400	0.97515	.	.	ENSG00000125912	ENST00000246117	.	.	.	4.18	4.18	0.49190	.	0.266399	0.38272	N	0.001757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.5661	15.0924	0.72204	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000246117:Q166X	Q	+	1	0	NCLN	3144402	1.000000	0.71417	0.999000	0.59377	0.685000	0.39939	7.380000	0.79704	1.882000	0.54519	0.511000	0.50034	CAG	NCLN	-	pirsf_Nicalin		0.687	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCLN	HGNC	protein_coding	OTTHUMT00000452545.1	C	NM_020170		3193402	1	no_errors	ENST00000246117	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	3193402	C	T	3193402	4	4	50	1	0	0	0	0	0	1	0	0	10251	595	21	4	506	4	NCLN	19	3193402	Nonsense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	74353	3193402	55935581	196	6846										
PLIN5	440503	genome.wustl.edu	37	chr19	4525653	4525653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcgggctctcaccagctccaGcgtctcctgcagctgggcca	12	17	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:4525653G>A	ENST00000381848.3	-	6	792	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	238	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ACCAGCTCCAGCGTCTCCTGC	0.632																																																	0													40	49	46					19																	4525653		2080	4201	6281	SO:0001819	synonymous_variant	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.712C>T	19.37:g.4525653G>A			A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L238	ENST00000381848.3	37	c.712	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.632	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	G	NM_001013706		4525653	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	silent	SNP	0.901	A	A	4525653	G	A	4525653	2	1	50	1	0	0	0	0	0	0	0	1	12117	962	34	4		4	PLIN5	19	4525653	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1332251	4525653	54603330	197	6847										
PTPRS	5802	genome.wustl.edu	37	chr19	5231417	5231417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gcggtactgggtccacttctCcaaggcctccagcaggatct	11	14	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:5231417C>G	ENST00000587303.1	-	13	2158	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.E674Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E687Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E674Q|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.E688Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.E683Q|PTPRS_ENST00000353284.2_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	687	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCCACTTCTCCAAGGCCTCC	0.652																																																	0													64	53	57					19																	5231417		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2059G>C	19.37:g.5231417C>G	ENSP00000467537:p.Glu687Gln		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.E688Q	ENST00000587303.1	37	c.2062	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686159	0.29962	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	3.88	2.83	0.33086	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.170023	0.36628	U	0.002491	T	0.50973	0.1647	L	0.41415	1.275	0.80722	D	1	P;P	0.41420	0.749;0.733	B;P	0.50537	0.288;0.643	T	0.35968	-0.9767	10	0.20519	T	0.43	.	11.5753	0.50858	0.0:0.9107:0.0:0.0893	.	674;687	Q13332-6;Q13332	.;PTPRS_HUMAN	Q	688;687;687;687;683;674	ENSP00000361489:E688Q;ENSP00000349932:E687Q;ENSP00000262963:E683Q;ENSP00000269907:E674Q	ENSP00000262963:E683Q	E	-	1	0	PTPRS	5182417	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	5.479000	0.66813	0.832000	0.34804	-0.309000	0.09137	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	C			5231417	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5231417	C	G	5231417	3	3	50	1	0	0	0	0	1	0	0	0	12841	864	30	1	3887	1	PTPRS	19	5231417	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	705764	5231417	53897566	198	6848										
MUC16	94025	genome.wustl.edu	37	chr19	8993541	8993541	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggtggcttccccatctttctCtggcctagggagggcagata	13	11	2	1	rs547030245		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:8993541C>G	ENST00000397910.4	-	66	41751	c.41548G>C	c.(41548-41550)Gag>Cag	p.E13850Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E491Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13853	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCTTTCTCTGGCCTAGGG	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		19355	0		0	False		,,,				2504	0																0													47	45	46					19																	8993541		1908	4135	6043	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41548G>C	19.37:g.8993541C>G	ENSP00000381008:p.Glu13850Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E13850Q	ENST00000397910.4	37	c.41548	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.471|8.471	0.857581|0.857581	0.17106|0.17106	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.36878|.	1.23;1.23|.	3.47|3.47	-0.212|-0.212	0.13169|0.13169	SEA (1);|.	0.776429|.	0.10520|.	U|.	0.665074|.	T|T	0.55970|0.55970	0.1954|0.1954	M|M	0.87328|0.87328	2.875|2.875	.|.	.|.	.|.	P;D|.	0.53745|.	0.901;0.962|.	P;D|.	0.66716|.	0.619;0.946|.	T|T	0.59857|0.59857	-0.7375|-0.7375	9|4	0.33141|.	T|.	0.24|.	.|.	2.6435|2.6435	0.04978|0.04978	0.2275:0.5119:0.0:0.2606|0.2275:0.5119:0.0:0.2606	.|.	21495;13850|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	Q|H	13850;491|689	ENSP00000381008:E13850Q;ENSP00000370338:E491Q|.	ENSP00000370338:E491Q|.	E|Q	-|-	1|3	0|2	MUC16|MUC16	8854541|8854541	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.098000|0.098000	0.18820|0.18820	-0.063000|-0.063000	0.11655|0.11655	0.293000|0.293000	0.22520|0.22520	0.557000|0.557000	0.71058|0.71058	GAG|CAG	MUC16	-	pfam_SEA		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		8993541	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	G	G	8993541	C	G	8993541	3	3	50	1	0	0	0	0	1	0	0	0	9996	922	32	1	2051	1	MUC16	19	8993541	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	3762124	8993541	50135442	199	6849										
SMARCA4	6597	genome.wustl.edu	37	chr19	11106898	11106898	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgcttttgtaggctgaagatGaggaggggtaccgcaagctc	15	7	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:11106898G>A	ENST00000429416.3	+	11	1884	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	SMARCA4_ENST00000344626.4_Missense_Mutation_p.E535K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E535K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E535K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E535K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E535K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E535K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E535K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E535K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	535					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCTGAAGATGAGGAGGGGTA	0.562			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											166	141	149					19																	11106898		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1603G>A	19.37:g.11106898G>A	ENSP00000395654:p.Glu535Lys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E535K	ENST00000429416.3	37	c.1603	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.109555	0.94292	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.991;0.999;0.999;0.995;0.999;0.999	D	0.90495	0.4470	10	0.87932	D	0	-44.5682	17.0373	0.86479	0.0:0.0:1.0:0.0	.	535;535;535;535;535;535;535	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	535;535;599;535;535;535;535;535	ENSP00000395654:E535K;ENSP00000350720:E535K;ENSP00000343896:E535K;ENSP00000445036:E535K;ENSP00000392837:E535K;ENSP00000397783:E535K;ENSP00000414727:E535K	ENSP00000343896:E535K	E	+	1	0	SMARCA4	10967898	1.000000	0.71417	0.951000	0.38953	0.878000	0.50629	9.711000	0.98735	2.371000	0.80710	0.563000	0.77884	GAG	SMARCA4	-	NULL		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11106898	1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11106898	G	A	11106898	3	1	50	1	0	0	0	0	1	0	0	0	14800	1291	45	1	1637	1	SMARCA4	19	11106898	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2113357	11106898	48022085	200	6850										
ZNF433	163059	genome.wustl.edu	37	chr19	12127285	12127285	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgtccatattcttgatactCatatgccttgtgtccagtgt	7	10	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:12127285C>G	ENST00000344980.6	-	4	567	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	ZNF433_ENST00000419886.2_Missense_Mutation_p.E98Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCTTGATACTCATATGCCTTG	0.398																																																	0													108	112	111					19																	12127285		2185	4292	6477	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.397G>C	19.37:g.12127285C>G	ENSP00000339767:p.Glu133Gln		Q86VX3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E133Q	ENST00000344980.6	37	c.397	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514103	0.27123	.	.	ENSG00000197647	ENST00000419886;ENST00000344980;ENST00000550507;ENST00000455504;ENST00000552904	T;T;T;T;T	0.35973	1.28;1.28;1.28;5.87;2.41	1.19	-2.27	0.06846	.	.	.	.	.	T	0.30634	0.0771	L	0.28192	0.835	0.09310	N	1	D	0.56287	0.975	P	0.56648	0.803	T	0.14699	-1.0463	9	0.34782	T	0.22	.	2.711	0.05174	0.0:0.2994:0.2595:0.441	.	133	Q8N7K0	ZN433_HUMAN	Q	98;133;130;144;98	ENSP00000393416:E98Q;ENSP00000339767:E133Q;ENSP00000448099:E130Q;ENSP00000414857:E144Q;ENSP00000448233:E98Q	ENSP00000339767:E133Q	E	-	1	0	ZNF433	11988285	.	.	0.000000	0.03702	0.189000	0.23516	.	.	-0.546000	0.06216	0.306000	0.20318	GAG	ZNF433	-	NULL		0.398	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12127285	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	0.000	G	G	12127285	C	G	12127285	3	3	50	1	0	0	0	0	1	0	0	0	17937	835	29	1	1628	1	ZNF433	19	12127285	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	1020387	12127285	47001698	201	6851										
SAMD1	5566	genome.wustl.edu	37	chr19	14200167	14200167	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tctcaagtactcgctcttctCcacctctctggagccgagga	8	15	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:14200167C>T	ENST00000308677.4	-	0	2677				PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.G215E	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCGCTCTTCTCCACCTCTCTG	0.512																																																	0													42	48	46					19																	14200167		1748	3451	5199	SO:0001628	intergenic_variant	90378				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14200167C>T			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G215E	ENST00000308677.4	37	c.644	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992445	0.18966	.	.	ENSG00000141858	ENST00000533683	T	0.45276	0.9	2.85	2.85	0.33270	.	0.729873	0.11949	N	0.513892	T	0.46405	0.1391	N	0.19112	0.55	0.32975	D	0.522923	D	0.89917	1.0	D	0.80764	0.994	T	0.54556	-0.8276	10	0.54805	T	0.06	-8.9492	9.2567	0.37588	0.0:1.0:0.0:0.0	.	215	E9PIW9	.	E	215	ENSP00000431971:G215E	ENSP00000431971:G215E	G	-	2	0	SAMD1	14061167	0.695000	0.27747	1.000000	0.80357	0.153000	0.21895	1.050000	0.30404	1.584000	0.49913	0.462000	0.41574	GGA	SAMD1	-	NULL		0.512	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14200167	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	14200167	C	T	14200167	1	4	50	0	1	0	0	0	0	0	0	0	13844	855	30	1		1	SAMD1	19	14200167	IGR	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2072882	14200167	44928816	202	6852										
MED26	9441	genome.wustl.edu	37	chr19	16687305	16687305	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctccatgtgcacagggctgtCtgcccgcactggctctttct	10	15	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:16687305C>G	ENST00000263390.3	-	3	1598	c.1336G>C	c.(1336-1338)Gac>Cac	p.D446H	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	446					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						ACAGGGCTGTCTGCCCGCACT	0.597																																																	0													79	70	73					19																	16687305		2203	4300	6503	SO:0001583	missense	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1336G>C	19.37:g.16687305C>G	ENSP00000263390:p.Asp446His		A1A4S3|Q0VGB6	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.D446H	ENST00000263390.3	37	c.1336	CCDS12347.1	19	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542145	0.45280	.	.	ENSG00000105085	ENST00000263390	T	0.43294	0.95	5.14	2.97	0.34412	.	0.212948	0.46758	D	0.000271	T	0.40886	0.1135	L	0.51422	1.61	0.09310	N	0.999994	B	0.34103	0.437	B	0.40825	0.341	T	0.35773	-0.9775	10	0.62326	D	0.03	-16.8763	9.5257	0.39162	0.1423:0.7828:0.0:0.0749	.	446	O95402	MED26_HUMAN	H	446	ENSP00000263390:D446H	ENSP00000263390:D446H	D	-	1	0	MED26	16548305	1.000000	0.71417	0.202000	0.23494	0.831000	0.47069	4.526000	0.60566	0.663000	0.31027	-0.291000	0.09656	GAC	MED26	-	NULL		0.597	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED26	HGNC	protein_coding	OTTHUMT00000461178.1	C	NM_004831		16687305	-1	no_errors	ENST00000263390	ensembl	human	known	70_37	missense	SNP	0.299	G	G	16687305	C	G	16687305	3	3	50	1	0	0	0	0	1	0	0	0	9467	913	32	1	470	1	MED26	19	16687305	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2487138	16687305	42441678	203	6853										
NR2F6	2063	genome.wustl.edu	37	chr19	17355841	17355841	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	acaccgtaatgcttgccgctCgacttgtccccgcacaccac	7	18	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:17355841C>G	ENST00000291442.3	-	1	908	c.189G>C	c.(187-189)tcG>tcC	p.S63S	AC010646.3_ENST00000594059.1_Intron	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	63					detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GCTTGCCGCTCGACTTGTCCC	0.692																																																	0													27	23	24					19																	17355841		2196	4295	6491	SO:0001819	synonymous_variant	2063			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.189G>C	19.37:g.17355841C>G			B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S63	ENST00000291442.3	37	c.189	CCDS12352.1	19																																																																																			NR2F6	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.692	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F6	HGNC	protein_coding	OTTHUMT00000463325.1	C			17355841	-1	no_errors	ENST00000291442	ensembl	human	known	70_37	silent	SNP	1.000	G	G	17355841	C	G	17355841	2	3	50	1	0	0	0	0	0	0	0	1	10653	871	31	1		1	NR2F6	19	17355841	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	668536	17355841	41773142	204	6854										
FFAR3	2865	genome.wustl.edu	37	chr19	35850071	35850071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctctgcccactctctggattCatcttcttcaccaccatcta	3	17	7	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:35850071C>T	ENST00000327809.4	+	2	480	c.279C>T	c.(277-279)ttC>ttT	p.F93F	FFAR3_ENST00000594310.1_Silent_p.F93F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	93					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCTCTGGATTCATCTTCTTCA	0.597																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													43	42	42					19																	35850071		2199	4269	6468	SO:0001819	synonymous_variant	2865			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.279C>T	19.37:g.35850071C>T			B2RWM8|Q14CM7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.F93	ENST00000327809.4	37	c.279	CCDS12459.1	19																																																																																			FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	C	NM_005304		35850071	1	no_errors	ENST00000327809	ensembl	human	known	70_37	silent	SNP	0.978	T	T	35850071	C	T	35850071	2	4	50	1	0	0	0	0	0	0	0	1	5847	825	29	1		1	FFAR3	19	35850071	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	18494230	35850071	23278912	205	6855										
MLL4	9757	genome.wustl.edu	37	chr19	36223347	36223347	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccccctggcccggccccatCtccaccaccccctgaagacc	6	24	1	2	rs201138169		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:36223347C>T	ENST00000222270.7	+	28	5897	c.5897C>T	c.(5896-5898)tCt>tTt	p.S1966F	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1966F	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1966	Poly-Pro.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCGGCCCCATCTCCACCACCC	0.657																																																	0								C	PHE/SER	1,3939		0,1,1969	35	41	39		5897	4.5	1	19		39	1,8285		0,1,4142	yes	missense	MLL4	NM_014727.1	155	0,2,6111	TT,TC,CC		0.0121,0.0254,0.0164	probably-damaging	1966/2716	36223347	2,12224	1970	4143	6113	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5897C>T	19.37:g.36223347C>T	ENSP00000222270:p.Ser1966Phe		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.S1966F	ENST00000222270.7	37	c.5897	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897051	0.33535	2.54E-4	1.21E-4	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.87491	-2.26;-2.26	4.53	4.53	0.55603	.	0.000000	0.44097	D	0.000494	D	0.89210	0.6650	L	0.51422	1.61	0.32722	N	0.510186	D	0.61080	0.989	P	0.56700	0.804	D	0.91773	0.5429	10	0.72032	D	0.01	.	14.6338	0.68676	0.0:1.0:0.0:0.0	.	1966	Q9UMN6	MLL4_HUMAN	F	1966	ENSP00000222270:S1966F;ENSP00000398837:S1966F	ENSP00000222270:S1966F	S	+	2	0	AD000671.1	40915187	0.638000	0.27225	0.967000	0.41034	0.780000	0.44128	3.045000	0.49838	2.515000	0.84797	0.462000	0.41574	TCT	WBP7	-	pirsf_MeTrfase_trithorax		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		C	NM_014727		36223347	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	0.993	T	T	36223347	C	T	36223347	3	4	50	1	0	0	0	0	1	0	0	0	9646	913	32	1	6007	1	MLL4	19	36223347	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	373276	36223347	22905636	206	6856										
CLIP3	25999	genome.wustl.edu	37	chr19	36508864	36508864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	acgctgctgcaagctgcccaGagatggggatgatggggtct	16	9	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:36508864G>C	ENST00000360535.4	-	10	1440	c.1213C>G	c.(1213-1215)Ctg>Gtg	p.L405V	CLIP3_ENST00000593074.1_Missense_Mutation_p.L405V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	405					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGCTGCCCAGAGATGGGGAT	0.612																																																	0													70	69	69					19																	36508864		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1213C>G	19.37:g.36508864G>C	ENSP00000353732:p.Leu405Val		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.L405V	ENST00000360535.4	37	c.1213	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	G	8.104	0.777379	0.16120	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71817	-0.6	4.87	3.83	0.44106	Cytoskeleton-associated protein, Gly-rich domain (1);	0.376195	0.22758	N	0.055987	T	0.44244	0.1284	N	0.03608	-0.345	0.35314	D	0.784161	B	0.02656	0.0	B	0.01281	0.0	T	0.46965	-0.9153	10	0.30078	T	0.28	-4.2163	8.8241	0.35043	0.1016:0.0:0.8984:0.0	.	405	Q96DZ5	CLIP3_HUMAN	V	405;287;381	ENSP00000353732:L405V	ENSP00000353732:L405V	L	-	1	2	CLIP3	41200704	0.903000	0.30736	1.000000	0.80357	0.992000	0.81027	0.082000	0.14847	1.273000	0.44346	0.561000	0.74099	CTG	CLIP3	-	superfamily_CAP-Gly_domain		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	G	NM_015526		36508864	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36508864	G	C	36508864	3	2	50	1	0	0	0	0	1	0	0	0	3539	933	33	1	450	1	CLIP3	19	36508864	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	285517	36508864	22620119	207	6857										
ZNF790	388536	genome.wustl.edu	37	chr19	37310810	37310810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gttaaaagtgggccttttttCacaggtgcgtatcacctgct	10	9	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:37310810C>T	ENST00000356725.4	-	5	556	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCCTTTTTTCACAGGTGCGT	0.398																																																	0													141	136	137					19																	37310810		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.436G>A	19.37:g.37310810C>T	ENSP00000349161:p.Glu146Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E146K	ENST00000356725.4	37	c.436	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845144	0.32606	.	.	ENSG00000197863	ENST00000356725;ENST00000528994	T;T	0.04970	3.52;6.31	3.2	2.15	0.27550	.	.	.	.	.	T	0.04952	0.0133	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45396	-0.9264	9	0.15499	T	0.54	.	5.9632	0.19310	0.0:0.6932:0.1938:0.113	.	146	Q6PG37	ZN790_HUMAN	K	146	ENSP00000349161:E146K;ENSP00000435944:E146K	ENSP00000349161:E146K	E	-	1	0	ZNF790	42002650	0.021000	0.18746	0.127000	0.21898	0.062000	0.15995	1.222000	0.32515	0.666000	0.31087	0.491000	0.48974	GAA	ZNF790	-	NULL		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	C	NM_206894		37310810	-1	no_errors	ENST00000356725	ensembl	human	known	70_37	missense	SNP	0.189	T	T	37310810	C	T	37310810	3	4	50	1	0	0	0	0	1	0	0	0	18192	835	29	1	1478	1	ZNF790	19	37310810	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	801946	37310810	21818173	208	6858										
LRFN1	57622	genome.wustl.edu	37	chr19	39799112	39799112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtcgtcgtagaccgccagcaCgcacaagtcgtaggcacggc	13	14	0	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:39799112C>T	ENST00000248668.4	-	2	1476	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	493	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACCGCCAGCACGCACAAGTCG	0.692																																																	0													16	18	17					19																	39799112		2012	4114	6126	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1477G>A	19.37:g.39799112C>T	ENSP00000248668:p.Val493Met		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V493M	ENST00000248668.4	37	c.1477	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015760	0.75161	.	.	ENSG00000128011	ENST00000248668	T	0.74106	-0.81	4.49	3.41	0.39046	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34959	N	0.003544	D	0.85392	0.5686	M	0.82823	2.61	0.53688	D	0.999973	D	0.89917	1.0	D	0.85130	0.997	D	0.86563	0.1842	10	0.87932	D	0	.	11.1769	0.48606	0.1853:0.8147:0.0:0.0	.	493	Q9P244	LRFN1_HUMAN	M	493	ENSP00000248668:V493M	ENSP00000248668:V493M	V	-	1	0	LRFN1	44490952	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.483000	0.81158	1.056000	0.40484	0.462000	0.41574	GTG	LRFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	C	NM_020862		39799112	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39799112	C	T	39799112	3	4	50	1	0	0	0	0	1	0	0	0	8960	536	19	2	842	2	LRFN1	19	39799112	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2488302	39799112	19329871	209	6859										
FCGBP	8857	genome.wustl.edu	37	chr19	40376976	40376976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctcccaggagttgccgaactCattggcgttgcctgcctgcg	12	14	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:40376976C>T	ENST00000221347.6	-	24	11453	c.11446G>A	c.(11446-11448)Gag>Aag	p.E3816K	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3816	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCCGAACTCATTGGCGTTG	0.642																																																	0													3	4	3					19																	40376976		1540	3147	4687	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11446G>A	19.37:g.40376976C>T	ENSP00000221347:p.Glu3816Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E3816K	ENST00000221347.6	37	c.11446	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	c	0.063	-1.220215	0.01542	.	.	ENSG00000090920	ENST00000221347	T	0.19806	2.12	3.75	2.6	0.31112	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.18383	0.0441	M	0.70275	2.135	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.35822	-0.9773	9	0.10902	T	0.67	.	3.6241	0.08107	0.0:0.5552:0.2235:0.2212	.	3816	Q9Y6R7	FCGBP_HUMAN	K	3816	ENSP00000221347:E3816K	ENSP00000221347:E3816K	E	-	1	0	FCGBP	45068816	0.000000	0.05858	0.014000	0.15608	0.045000	0.14185	0.866000	0.27954	1.792000	0.52537	0.313000	0.20887	GAG	FCGBP	-	NULL		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40376976	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40376976	C	T	40376976	3	4	50	1	0	0	0	0	1	0	0	0	5796	835	29	1	4823	1	FCGBP	19	40376976	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	577864	40376976	18752007	210	6860										
FCGBP	8857	genome.wustl.edu	37	chr19	40392661	40392661	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctcccaggagttgccgaactCattggcgttgcctgcctgcg	12	14	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:40392661C>T	ENST00000221347.6	-	16	7850	c.7843G>A	c.(7843-7845)Gag>Aag	p.E2615K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2615	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCCGAACTCATTGGCGTTG	0.642																																																	0													6	7	7					19																	40392661		2063	4127	6190	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7843G>A	19.37:g.40392661C>T	ENSP00000221347:p.Glu2615Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E2615K	ENST00000221347.6	37	c.7843	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	0.662	-0.805216	0.02819	.	.	ENSG00000090920	ENST00000221347	T	0.20738	2.05	2.66	2.66	0.31614	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.21468	0.0517	L	0.60067	1.865	0.09310	N	1	P	0.46656	0.882	P	0.49047	0.599	T	0.09465	-1.0673	9	0.06365	T	0.9	.	4.6521	0.12599	0.0:0.7144:0.0:0.2856	.	2615	Q9Y6R7	FCGBP_HUMAN	K	2615	ENSP00000221347:E2615K	ENSP00000221347:E2615K	E	-	1	0	FCGBP	45084501	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	0.361000	0.20267	1.495000	0.48549	0.298000	0.19748	GAG	FCGBP	-	NULL		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40392661	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40392661	C	T	40392661	3	4	50	1	0	0	0	0	1	0	0	0	5796	835	29	1	8458	1	FCGBP	19	40392661	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	15685	40392661	18736322	211	6861										
CYP2A6	1548	genome.wustl.edu	37	chr19	41352833	41352833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtcccgtggggaattgggatCcagcgtgcgctggttgtgct	17	9	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:41352833C>T	ENST00000301141.5	-	5	798	c.778G>A	c.(778-780)Gat>Aat	p.D260N	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	260					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAATTGGGATCCAGCGTGCGC	0.582																																																	0													124	99	108					19																	41352833		2203	4300	6503	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.778G>A	19.37:g.41352833C>T	ENSP00000301141:p.Asp260Asn		A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.D260N	ENST00000301141.5	37	c.778	CCDS12568.1	19	.	.	.	.	.	.	.	.	.	.	-	22.7	4.330125	0.81690	.	.	ENSG00000255974	ENST00000301141	T	0.01369	4.97	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	L	0.47078	1.49	0.39043	D	0.960172	D;D	0.89917	1.0;0.999	D;D	0.91635	0.99;0.999	T	0.45745	-0.9240	10	0.66056	D	0.02	.	11.8917	0.52633	0.0:1.0:0.0:0.0	.	260;260	Q13120;P11509	.;CP2A6_HUMAN	N	260	ENSP00000301141:D260N	ENSP00000301141:D260N	D	-	1	0	CYP2A6	46044673	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.119000	0.64679	1.339000	0.45563	0.386000	0.25728	GAT	CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.582	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	C	NM_000762		41352833	-1	no_errors	ENST00000301141	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41352833	C	T	41352833	3	4	50	1	0	0	0	0	1	0	0	0	4167	855	30	1	726	1	CYP2A6	19	41352833	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	960172	41352833	17776150	212	6862										
PSG5	5673	genome.wustl.edu	37	chr19	43688967	43688967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggtgaaatatccagttactcCtctagtcctatcacctcgct	6	13	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:43688967C>T	ENST00000366175.3	-	2	527	c.397G>A	c.(397-399)Gga>Aga	p.G133R	PSG5_ENST00000342951.6_Missense_Mutation_p.G133R|PSG5_ENST00000599812.1_Missense_Mutation_p.G133R|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.G133R|PSG5_ENST00000404580.1_Missense_Mutation_p.G133R|PSG5_ENST00000407356.1_Missense_Mutation_p.G133R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	133	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCAGTTACTCCTCTAGTCCTA	0.473																																																	0													307	275	286					19																	43688967		2203	4295	6498	SO:0001583	missense	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.397G>A	19.37:g.43688967C>T	ENSP00000382334:p.Gly133Arg		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G133R	ENST00000366175.3	37	c.397	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	N	0.889	-0.726266	0.03158	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01629	4.72;4.72;4.72;4.72;4.72	1.58	-3.15	0.05233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.24092	0.022;0.097;0.003;0.01	B;B;B;B	0.33254	0.125;0.16;0.035;0.068	T	0.48198	-0.9056	9	0.07175	T	0.84	.	3.5162	0.07726	0.0:0.3366:0.2066:0.4567	.	133;133;133;133	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	R	133	ENSP00000382334:G133R;ENSP00000386008:G133R;ENSP00000386053:G133R;ENSP00000344413:G133R;ENSP00000385250:G133R	ENSP00000344413:G133R	G	-	1	0	PSG5	48380807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.343000	0.01099	-1.429000	0.01987	0.423000	0.28283	GGA	PSG5	-	smart_Ig_sub		0.473	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	HGNC	protein_coding	OTTHUMT00000323055.1	C	NM_002781		43688967	-1	no_errors	ENST00000342951	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43688967	C	T	43688967	3	4	50	1	0	0	0	0	1	0	0	0	12685	690	24	4	626	4	PSG5	19	43688967	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2336134	43688967	15440016	213	6863										
ZNF222	7673	genome.wustl.edu	37	chr19	44537136	44537136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtgggaagcgctacaagaggCgcttgaatctggatataatt	13	6	1	2	rs376038651		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:44537136C>T	ENST00000187879.8	+	4	1471	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	ZNF222_ENST00000391960.3_Missense_Mutation_p.R477C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTACAAGAGGCGCTTGAATCT	0.363																																																	0													48	50	49					19																	44537136		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1309C>T	19.37:g.44537136C>T	ENSP00000187879:p.Arg437Cys		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R477C	ENST00000187879.8	37	c.1429	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426019	0.43020	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.06768	3.26;3.33	2.31	-0.437	0.12272	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14743	0.0356	L	0.46947	1.48	0.09310	N	1	D;D	0.89917	1.0;0.998	P;P	0.62184	0.899;0.772	T	0.15378	-1.0439	9	0.54805	T	0.06	.	5.0438	0.14473	0.2809:0.5443:0.0:0.1748	.	477;437	G5E9B9;Q9UK12	.;ZN222_HUMAN	C	477;437;383	ENSP00000375822:R477C;ENSP00000187879:R437C	ENSP00000187879:R437C	R	+	1	0	ZNF222	49228976	0.000000	0.05858	0.002000	0.10522	0.533000	0.34776	-0.067000	0.11579	0.122000	0.18314	0.205000	0.17691	CGC	ZNF222	-	NULL		0.363	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	C			44537136	1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44537136	C	T	44537136	3	4	50	1	0	0	0	0	1	0	0	0	17806	768	27	2	1462	2	ZNF222	19	44537136	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	848169	44537136	14591847	214	6864										
FOXA3	3171	genome.wustl.edu	37	chr19	46375532	46375532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagcggtggcagcagcagctCcgggtacggggccccgggtc	18	14	0	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:46375532C>T	ENST00000302177.2	+	2	466	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	90					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGCAGCAGCTCCGGGTACGGG	0.706																																																	0													17	21	20					19																	46375532		2200	4296	6496	SO:0001583	missense	3171			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.269C>T	19.37:g.46375532C>T	ENSP00000304004:p.Ser90Phe		A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S90F	ENST00000302177.2	37	c.269	CCDS12677.1	19	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279721	0.10458	.	.	ENSG00000170608	ENST00000302177	T	0.18960	2.18	4.09	4.09	0.47781	Fork-head N-terminal (1);	0.827374	0.10667	N	0.647962	T	0.14527	0.0351	N	0.14661	0.345	0.39610	D	0.969862	B	0.29862	0.259	B	0.34536	0.185	T	0.07868	-1.0750	10	0.11182	T	0.66	.	13.8403	0.63435	0.0:1.0:0.0:0.0	.	90	P55318	FOXA3_HUMAN	F	90	ENSP00000304004:S90F	ENSP00000304004:S90F	S	+	2	0	FOXA3	51067372	0.014000	0.17966	0.290000	0.24890	0.184000	0.23303	1.666000	0.37460	2.124000	0.65301	0.297000	0.19635	TCC	FOXA3	-	pfam_Fork-head_N		0.706	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	C			46375532	1	no_errors	ENST00000302177	ensembl	human	known	70_37	missense	SNP	0.716	T	T	46375532	C	T	46375532	3	4	50	1	0	0	0	0	1	0	0	0	6009	855	30	1	275	1	FOXA3	19	46375532	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	1838396	46375532	12753451	215	6865										
IGFL3	388555	genome.wustl.edu	37	chr19	46627226	46627226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ttcacaagaaacttctgctgGgggccaaaagactcgggaca	11	10	2	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:46627226G>A	ENST00000341415.2	-	3	291	c.267C>T	c.(265-267)ccC>ccT	p.P89P	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	89						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTTCTGCTGGGGGCCAAAAG	0.532																																																	0													93	116	108					19																	46627226		2188	4300	6488	SO:0001819	synonymous_variant	388555			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.267C>T	19.37:g.46627226G>A				Silent	SNP	NULL	p.P89	ENST00000341415.2	37	c.267	CCDS33058.1	19																																																																																			IGFL3	-	NULL		0.532	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL3	HGNC	protein_coding	OTTHUMT00000421323.1	G	NM_207393		46627226	-1	no_errors	ENST00000341415	ensembl	human	known	70_37	silent	SNP	0.009	A	A	46627226	G	A	46627226	2	1	50	1	0	0	0	0	0	0	0	1	7608	1219	43	4		4	IGFL3	19	46627226	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	251694	46627226	12501757	216	6866										
MED25	81857	genome.wustl.edu	37	chr19	50338817	50338817	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggacagcaggcacccccaggGctggggcccattctggagga	16	13	1	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:50338817G>T	ENST00000312865.6	+	15	1754	c.1701G>T	c.(1699-1701)ggG>ggT	p.G567G	MED25_ENST00000538643.1_Silent_p.G354G	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	567	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACCCCCAGGGCTGGGGCCCA	0.687																																					GBM(51;894 1657 37868)												0													8	8	8					19																	50338817		2164	4261	6425	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1701G>T	19.37:g.50338817G>T			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.G567	ENST00000312865.6	37	c.1701	CCDS33075.1	19																																																																																			MED25	-	NULL		0.687	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	G	NM_030973		50338817	1	no_errors	ENST00000312865	ensembl	human	known	70_37	silent	SNP	0.533	T	T	50338817	G	T	50338817	2	4	50	1	0	0	0	0	0	0	0	1	9466	1190	42	4		4	MED25	19	50338817	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	3711591	50338817	8790166	217	6867										
USP29	57663	genome.wustl.edu	37	chr19	57641166	57641166	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	acatgcagaatgatgctcatGagtttttaggtcagtgttta	10	5	2	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:57641166G>T	ENST00000254181.4	+	4	1577	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E375*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	375	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATGCTCATGAGTTTTTAGG	0.363																																																	0													56	57	56					19																	57641166		2203	4299	6502	SO:0001587	stop_gained	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1123G>T	19.37:g.57641166G>T	ENSP00000254181:p.Glu375*			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E375*	ENST00000254181.4	37	c.1123	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	38	7.196289	0.98129	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.69	2.69	0.31865	.	0.000000	0.45867	U	0.000328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7888	11.5376	0.50648	0.0:0.0:1.0:0.0	.	.	.	.	X	375	.	ENSP00000254181:E375X	E	+	1	0	USP29	62332978	1.000000	0.71417	0.994000	0.49952	0.478000	0.33099	5.802000	0.69122	1.767000	0.52121	0.591000	0.81541	GAG	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57641166	1	no_errors	ENST00000254181	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	57641166	G	T	57641166	4	4	50	1	0	0	0	0	0	1	0	0	17090	1291	45	3	1125	3	USP29	19	57641166	Nonsense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	7302349	57641166	1487817	218	6868										
USP29	57663	genome.wustl.edu	37	chr19	57641463	57641463	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgtccattcagaattctttaGatcttttctttaaagaagaa	5	6	4	4			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:57641463G>C	ENST00000254181.4	+	4	1874	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H	USP29_ENST00000598197.1_Missense_Mutation_p.D474H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	474	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTAGATCTTTTCTT	0.388																																																	0													101	104	103					19																	57641463		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1420G>C	19.37:g.57641463G>C	ENSP00000254181:p.Asp474His			Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D474H	ENST00000254181.4	37	c.1420	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	9.917	1.211085	0.22289	.	.	ENSG00000131864	ENST00000254181	T	0.75589	-0.95	2.57	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.617419	0.13328	U	0.396148	D	0.84745	0.5540	M	0.77616	2.38	0.32672	N	0.516718	D	0.89917	1.0	D	0.83275	0.996	D	0.85817	0.1383	10	0.72032	D	0.01	-14.0608	11.279	0.49184	0.0:0.0:1.0:0.0	.	474	Q9HBJ7	UBP29_HUMAN	H	474	ENSP00000254181:D474H	ENSP00000254181:D474H	D	+	1	0	USP29	62333275	1.000000	0.71417	0.088000	0.20740	0.017000	0.09413	4.769000	0.62300	1.705000	0.51264	0.591000	0.81541	GAT	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57641463	1	no_errors	ENST00000254181	ensembl	human	known	70_37	missense	SNP	0.951	C	C	57641463	G	C	57641463	3	2	50	1	0	0	0	0	1	0	0	0	17090	942	33	1	1422	1	USP29	19	57641463	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	297	57641463	1487520	219	6869										
MZF1	7593	genome.wustl.edu	37	chr19	59082675	59082675	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcagcctcaccctcctcctCagagtcctctagcttcacca	6	19	4	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:59082675C>G	ENST00000215057.2	-	2	642	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	MZF1_ENST00000599369.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594108.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E28Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	28					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E28Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCCTCCTCCTCAGAGTCCTCT	0.642																																																	1	Substitution - Missense(1)	urinary_tract(1)											30	35	33					19																	59082675		2203	4300	6503	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.82G>C	19.37:g.59082675C>G	ENSP00000215057:p.Glu28Gln		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E28Q	ENST00000215057.2	37	c.82	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626561	0.28978	.	.	ENSG00000099326	ENST00000215057	T	0.07444	3.19	3.46	3.46	0.39613	.	0.414316	0.17824	N	0.160752	T	0.04815	0.0130	N	0.08118	0	0.21445	N	0.999689	P;P	0.48911	0.917;0.61	B;B	0.42882	0.401;0.159	T	0.41822	-0.9487	9	.	.	.	-9.5958	10.7272	0.46074	0.0:1.0:0.0:0.0	.	28;28	Q7Z729;P28698	.;MZF1_HUMAN	Q	28	ENSP00000215057:E28Q	.	E	-	1	0	MZF1	63774487	0.000000	0.05858	0.985000	0.45067	0.355000	0.29361	0.718000	0.25866	2.236000	0.73375	0.655000	0.94253	GAG	MZF1	-	NULL		0.642	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	C	NM_198055		59082675	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.929	G	G	59082675	C	G	59082675	3	3	50	1	0	0	0	0	1	0	0	0	10131	835	29	1	2142	1	MZF1	19	59082675	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	1441212	59082675	46308	220	6870										
RBM12	10137	genome.wustl.edu	37	chr20	34241792	34241792	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atgacgacacagagcagcctTatagtcagcctcatttctga	8	11	3	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:34241792T>G	ENST00000374114.3	-	3	1716	c.1453A>C	c.(1453-1455)Aag>Cag	p.K485Q	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.K485Q|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.K485Q|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	485	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGAGCAGCCTTATAGTCAGCC	0.388											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													117	121	120					20																	34241792		2203	4300	6503	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1453A>C	20.37:g.34241792T>G	ENSP00000363228:p.Lys485Gln	846	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K485Q	ENST00000374114.3	37	c.1453	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319283	0.41096	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.06849	3.25;3.25;3.25	4.7	4.7	0.59300	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.33293	1	0.80722	D	1	D	0.61080	0.989	D	0.76071	0.987	T	0.12993	-1.0526	10	0.12766	T	0.61	-6.9905	14.3486	0.66685	0.0:0.0:0.0:1.0	.	485	Q9NTZ6	RBM12_HUMAN	Q	485;485;485;284	ENSP00000363228:K485Q;ENSP00000352668:K485Q;ENSP00000363217:K485Q	ENSP00000339879:K284Q	K	-	1	0	RBM12	33705206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.681000	0.68175	1.975000	0.57531	0.454000	0.30748	AAG	RBM12	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.388	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	T	NM_006047		34241792	-1	no_errors	ENST00000359646	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34241792	T	G	34241792	3	3	50	1	0	0	0	0	1	0	0	0	13143	1763	61	5	1349	5	RBM12	20	34241792	Missense_Mutation	SNP	T	TCGA-C5-A7UH-01A-11D-A351-09		34241792	28783728	221	6871										
TP53TG5	27296	genome.wustl.edu	37	chr20	44002626	44002626	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tccaccctctgctcgcacctCtggctctcgtccaggtcaca	7	19	4	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44002626C>G	ENST00000372726.3	-	5	950	c.794G>C	c.(793-795)aGa>aCa	p.R265T	SYS1_ENST00000426004.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.R249T|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	265					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GCTCGCACCTCTGGCTCTCGT	0.582											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134	110	118					20																	44002626		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.794G>C	20.37:g.44002626C>G	ENSP00000361811:p.Arg265Thr	920		Missense_Mutation	SNP	NULL	p.R265T	ENST00000372726.3	37	c.794	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870299	0.33069	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.11604	2.77;2.76	4.27	1.18	0.20946	.	0.436987	0.17258	N	0.180883	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B	0.19583	0.037	B	0.18561	0.022	T	0.30592	-0.9973	10	0.51188	T	0.08	-1.0E-4	6.1791	0.20461	0.0:0.5282:0.3702:0.1016	.	265	Q9Y2B4	T53G5_HUMAN	T	265;249	ENSP00000361811:R265T;ENSP00000438374:R249T	ENSP00000361811:R265T	R	-	2	0	TP53TG5	43436040	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.054000	0.11826	0.310000	0.22990	0.655000	0.94253	AGA	TP53TG5	-	NULL		0.582	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	C	NM_014477		44002626	-1	no_errors	ENST00000372726	ensembl	human	known	70_37	missense	SNP	0.001	G	G	44002626	C	G	44002626	3	3	50	1	0	0	0	0	1	0	0	0	16422	913	32	1	82	1	TP53TG5	20	44002626	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	9760834	44002626	19022894	222	6872										
ZSWIM3	140831	genome.wustl.edu	37	chr20	44506247	44506247	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gaagccagcctgaaaaatctCtgccagatgtcccaggccgt	10	13	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44506247C>G	ENST00000255152.2	+	2	1259	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	ZSWIM3_ENST00000454862.2_Silent_p.L344L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	350							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGAAAAATCTCTGCCAGATGT	0.512																																																	0													75	76	76					20																	44506247		2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1050C>G	20.37:g.44506247C>G			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.L350	ENST00000255152.2	37	c.1050	CCDS13381.1	20																																																																																			ZSWIM3	-	NULL		0.512	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	C	NM_080752		44506247	1	no_errors	ENST00000255152	ensembl	human	known	70_37	silent	SNP	0.999	G	G	44506247	C	G	44506247	2	3	50	1	0	0	0	0	0	0	0	1	18272	900	32	1		1	ZSWIM3	20	44506247	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	503621	44506247	18519273	223	6873										
ZSWIM3	140831	genome.wustl.edu	37	chr20	44507087	44507087	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agggagttagcaaacctgctCatgcagaccgaggggccaga	14	10	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44507087C>G	ENST00000255152.2	+	2	2099	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM3_ENST00000454862.2_Silent_p.L624L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	630							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CAAACCTGCTCATGCAGACCG	0.577																																																	0													134	117	122					20																	44507087		2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1890C>G	20.37:g.44507087C>G			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.L630	ENST00000255152.2	37	c.1890	CCDS13381.1	20																																																																																			ZSWIM3	-	NULL		0.577	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	C	NM_080752		44507087	1	no_errors	ENST00000255152	ensembl	human	known	70_37	silent	SNP	0.491	G	G	44507087	C	G	44507087	2	3	50	1	0	0	0	0	0	0	0	1	18272	813	29	1		1	ZSWIM3	20	44507087	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	840	44507087	18518433	224	6874										
ZNF335	63925	genome.wustl.edu	37	chr20	44577657	44577657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctgcagctgttgaatgtgttCgggcactgtctcgtctgtac	12	10	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44577657C>T	ENST00000322927.2	-	28	4064	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1167K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1322	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGAATGTGTTCGGGCACTGTC	0.607																																																	0													88	76	80					20																	44577657		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3964G>A	20.37:g.44577657C>T	ENSP00000325326:p.Glu1322Lys		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1322K	ENST00000322927.2	37	c.3964	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884771	0.91814	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.17370	2.46;2.28	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	T	0.04307	-1.0961	10	0.87932	D	0	-17.9919	15.6018	0.76631	0.0:1.0:0.0:0.0	.	1167;1322	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	K	1322;1099;1167	ENSP00000325326:E1322K;ENSP00000397098:E1167K	ENSP00000243961:E1099K	E	-	1	0	ZNF335	44011064	0.971000	0.33674	0.994000	0.49952	0.951000	0.60555	3.010000	0.49559	2.438000	0.82558	0.561000	0.74099	GAA	ZNF335	-	NULL		0.607	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44577657	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44577657	C	T	44577657	3	4	50	1	0	0	0	0	1	0	0	0	17882	893	31	1	68	1	ZNF335	20	44577657	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	70570	44577657	18447863	225	6875										
PRIC285	85441	genome.wustl.edu	37	chr20	62198794	62198794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gtgaccaccacgcggtgccgCgccagctctgcccgtgtggg	15	16	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:62198794C>T	ENST00000467148.1	-	6	1986	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Silent_p.A70A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	639	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A639A(1)									CGCGGTGCCGCGCCAGCTCTG	0.692																																																	1	Substitution - coding silent(1)	endometrium(1)											14	14	14					20																	62198794		2125	4209	6334	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1917G>A	20.37:g.62198794C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A639	ENST00000467148.1	37	c.1917	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62198794	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.000	T	T	62198794	C	T	62198794	2	4	50	1	0	0	0	0	0	0	0	1	12512	755	27	2		2	PRIC285	20	62198794	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	17621137	62198794	826726	226	6876										
DGCR6	8214	genome.wustl.edu	37	chr22	18898505	18898505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagagcacactggagaaggcGggggtggctggcttctacgt	17	9	1	2	rs139739471	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:18898505G>A	ENST00000331444.6	+	4	629	c.477G>A	c.(475-477)gcG>gcA	p.A159A	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_Silent_p.A23A	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	159					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						TGGAGAAGGCGGGGGTGGCTG	0.642																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	83	69	74		477	-8.6	0.9	22	dbSNP_134	74	0,8592		0,0,4296	no	coding-synonymous	DGCR6	NM_005675.4		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		159/221	18898505	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	8214			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.477G>A	22.37:g.18898505G>A			B2RCH5|D3DX15|G5E9J8|Q9BY28	Silent	SNP	pfam_DGCR6	p.A159	ENST00000331444.6	37	c.477	CCDS13753.1	22																																																																																			DGCR6	-	pfam_DGCR6		0.642	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	G	NM_005675		18898505	1	no_errors	ENST00000331444	ensembl	human	known	70_37	silent	SNP	0.220	A	A	18898505	G	A	18898505	2	1	50	1	0	0	0	0	0	0	0	1	4472	1103	39	2		2	DGCR6	22	18898505	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09		18898505	32406061	227	6877										
LZTR1	8216	genome.wustl.edu	37	chr22	21346583	21346583	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tatgaggagcgggttggcttCaagaagtcccgagatgtgtt	15	6	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:21346583C>G	ENST00000215739.8	+	10	1433	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F339L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	358					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGTTGGCTTCAAGAAGTCCC	0.607																																																	0													102	95	97					22																	21346583		2203	4300	6503	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1074C>G	22.37:g.21346583C>G	ENSP00000215739:p.Phe358Leu		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.F358L	ENST00000215739.8	37	c.1074	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650335	0.29336	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.57107	0.86;0.42	4.87	1.62	0.23740	.	0.210224	0.38897	N	0.001525	T	0.24198	0.0586	N	0.08118	0	0.26246	N	0.978791	B;B;B;B	0.23591	0.015;0.088;0.002;0.003	B;B;B;B	0.18871	0.005;0.023;0.003;0.009	T	0.18335	-1.0340	10	0.12103	T	0.63	-21.7689	6.5015	0.22172	0.0:0.6823:0.0:0.3177	.	339;317;358;317	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	317;358;339	ENSP00000215739:F358L;ENSP00000374006:F339L	ENSP00000215739:F358L	F	+	3	2	LZTR1	19676583	0.991000	0.36638	0.999000	0.59377	0.853000	0.48598	0.050000	0.14120	0.207000	0.20607	0.449000	0.29647	TTC	LZTR1	-	NULL		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	C	NM_006767		21346583	1	no_errors	ENST00000215739	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21346583	C	G	21346583	3	3	50	1	0	0	0	0	1	0	0	0	9160	825	29	1	1112	1	LZTR1	22	21346583	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2448078	21346583	29957983	228	6878										
TOM1	10043	genome.wustl.edu	37	chr22	35719506	35719506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cagtcctgggctgacgcgttCcgcagctcgcccgatctgac	12	16	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:35719506C>T	ENST00000449058.2	+	5	509	c.384C>T	c.(382-384)ttC>ttT	p.F128F	TOM1_ENST00000425375.1_Intron|TOM1_ENST00000436462.2_Silent_p.F90F|TOM1_ENST00000411850.1_Silent_p.F128F|TOM1_ENST00000447733.1_Silent_p.F95F|TOM1_ENST00000382034.5_Silent_p.F61F	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	128	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTGACGCGTTCCGCAGCTCGC	0.607																																																	0													124	117	120					22																	35719506		2203	4300	6503	SO:0001819	synonymous_variant	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.384C>T	22.37:g.35719506C>T			B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.F128	ENST00000449058.2	37	c.384	CCDS13913.1	22																																																																																			TOM1	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS		0.607	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35719506	1	no_errors	ENST00000411850	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35719506	C	T	35719506	2	4	50	1	0	0	0	0	0	0	0	1	16381	854	30	1		1	TOM1	22	35719506	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	14372923	35719506	15585060	229	6879										
TOM1	10043	genome.wustl.edu	37	chr22	35719843	35719843	+	Missense_Mutation	SNP	C	C	T													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	agaggactctggccagcatgCtgcccctctgcccgccccgc							TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:35719843C>T	ENST00000449058.2	+	6	709	c.584C>T	c.(583-585)gCt>gTt	p.A195V	TOM1_ENST00000425375.1_Missense_Mutation_p.A150V|TOM1_ENST00000436462.2_Missense_Mutation_p.A157V|TOM1_ENST00000411850.1_Missense_Mutation_p.A195V|TOM1_ENST00000447733.1_Missense_Mutation_p.A162V|TOM1_ENST00000382034.5_Missense_Mutation_p.A128V	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	195					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GGCCAGCATGCTGCCCCTCTG	0.602																																																	0													68	64	65					22																	35719843		2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.584C>T	22.37:g.35719843C>T	ENSP00000394466:p.Ala195Val		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.A195V	ENST00000449058.2	37	c.584	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472188	0.26423	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;1.9;0.94;0.94	4.87	0.112	0.14623	.	1.098250	0.06913	N	0.807989	T	0.29783	0.0744	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.002;0.001	T	0.28522	-1.0041	10	0.40728	T	0.16	-0.0172	7.0782	0.25217	0.0:0.5829:0.2655:0.1516	.	150;157;204;195;195	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	V	162;189;195;195;150;204;157;128	ENSP00000398876:A162V;ENSP00000393714:A189V;ENSP00000394466:A195V;ENSP00000413697:A195V;ENSP00000394924:A150V;ENSP00000402556:A157V;ENSP00000371465:A128V	ENSP00000371465:A128V	A	+	2	0	TOM1	34049843	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.087000	0.30865	0.468000	0.27243	-0.175000	0.13238	GCT	TOM1	-	pirsf_TOM1		0.602	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35719843	1	no_errors	ENST00000411850	ensembl	human	known	70_37	missense	SNP	0.000	T	T	35719843	C	T	35719843	3	4	50	1	0	0	0	0	1	0	0	0	16381	797	28	4	606	4	TOM1	22	35719843	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	337	35719843	15584723	230	6880	33	2								
TOM1	10043	genome.wustl.edu	37	chr22	35719851	35719851	+	Silent	SNP	C	C	T													0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctggccagcatgctgcccctCtgcccgccccgcccatactc							TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:35719851C>T	ENST00000449058.2	+	6	717	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	TOM1_ENST00000425375.1_Silent_p.L153L|TOM1_ENST00000436462.2_Silent_p.L160L|TOM1_ENST00000411850.1_Silent_p.L198L|TOM1_ENST00000447733.1_Silent_p.L165L|TOM1_ENST00000382034.5_Silent_p.L131L	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	198					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGCTGCCCCTCTGCCCGCCCC	0.617																																																	0													65	62	63					22																	35719851		2203	4300	6503	SO:0001819	synonymous_variant	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.592C>T	22.37:g.35719851C>T			B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.L198	ENST00000449058.2	37	c.592	CCDS13913.1	22																																																																																			TOM1	-	pirsf_TOM1		0.617	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35719851	1	no_errors	ENST00000411850	ensembl	human	known	70_37	silent	SNP	0.532	T	T	35719851	C	T	35719851	2	4	50	1	0	0	0	0	0	0	0	1	16381	912	32	1		1	TOM1	22	35719851	Silent	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	8	35719851	15584715	231	6881	33	2								
EP300	2033	genome.wustl.edu	37	chr22	41558764	41558764	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aattttccaagagaaaaaatGacacactggatcctgaactg	7	8	0	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:41558764G>T	ENST00000263253.7	+	21	4928	c.3709G>T	c.(3709-3711)Gac>Tac	p.D1237Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1237					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGAAAAAATGACACACTGGA	0.373			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Deletion - In frame(1)	breast(1)											134	126	129					22																	41558764		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3709G>T	22.37:g.41558764G>T	ENSP00000263253:p.Asp1237Tyr		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1237Y	ENST00000263253.7	37	c.3709	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065790	0.76187	.	.	ENSG00000100393	ENST00000263253	D	0.86865	-2.18	5.8	5.8	0.92144	.	0.000000	0.48286	D	0.000182	D	0.95348	0.8490	M	0.92219	3.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.95855	0.8878	10	0.87932	D	0	-11.0906	19.0392	0.92991	0.0:0.0:1.0:0.0	.	1237	Q09472	EP300_HUMAN	Y	1237	ENSP00000263253:D1237Y	ENSP00000263253:D1237Y	D	+	1	0	EP300	39888710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.981000	0.93465	2.740000	0.93945	0.650000	0.86243	GAC	EP300	-	superfamily_Znf_FYVE_PHD		0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41558764	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41558764	G	T	41558764	3	4	50	1	0	0	0	0	1	0	0	0	5160	1290	45	3	3791	3	EP300	22	41558764	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	5838913	41558764	9745802	232	6882										
EP300	2033	genome.wustl.edu	37	chr22	41572405	41572405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	cctggagttctcttcactccGaagagcccagtggtccacca	9	15	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:41572405G>A	ENST00000263253.7	+	30	6153	c.4934G>A	c.(4933-4935)cGa>cAa	p.R1645Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1645	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTTCACTCCGAAGAGCCCAG	0.557			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													96	78	84					22																	41572405		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4934G>A	22.37:g.41572405G>A	ENSP00000263253:p.Arg1645Gln		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1645Q	ENST00000263253.7	37	c.4934	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535144	0.64972	.	.	ENSG00000100393	ENST00000263253	D	0.93366	-3.21	5.03	4.02	0.46733	.	0.000000	0.40728	N	0.001033	D	0.94145	0.8122	H	0.94542	3.55	0.44330	D	0.997212	B	0.31503	0.326	B	0.18561	0.022	D	0.93703	0.7017	10	0.87932	D	0	-9.5464	13.7584	0.62950	0.075:0.0:0.925:0.0	.	1645	Q09472	EP300_HUMAN	Q	1645	ENSP00000263253:R1645Q	ENSP00000263253:R1645Q	R	+	2	0	EP300	39902351	1.000000	0.71417	0.073000	0.20177	0.994000	0.84299	9.869000	0.99810	1.255000	0.44051	-0.145000	0.13849	CGA	EP300	-	NULL		0.557	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41572405	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	0.998	A	A	41572405	G	A	41572405	3	1	50	1	0	0	0	0	1	0	0	0	5160	1058	37	1	5052	1	EP300	22	41572405	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	13641	41572405	9732161	233	6883										
EFCAB6	64800	genome.wustl.edu	37	chr22	43950956	43950956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ggcgggcctttgggcattttCtcagcccactcatcagctgt	11	13	3	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:43950956C>G	ENST00000262726.7	-	27	3694	c.3441G>C	c.(3439-3441)gaG>gaC	p.E1147D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.E995D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGGGCATTTTCTCAGCCCACT	0.542																																																	0													61	57	58					22																	43950956		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3441G>C	22.37:g.43950956C>G	ENSP00000262726:p.Glu1147Asp		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E1147D	ENST00000262726.7	37	c.3441	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334610	0.41297	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14766	2.51;2.48	4.88	3.81	0.43845	.	0.068137	0.56097	D	0.000022	T	0.26122	0.0637	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.73	D;B	0.69142	0.962;0.188	T	0.01301	-1.1391	10	0.15952	T	0.53	-31.0974	11.8051	0.52150	0.1739:0.8261:0.0:0.0	.	995;1147	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	D	995;1147	ENSP00000379533:E995D;ENSP00000262726:E1147D	ENSP00000262726:E1147D	E	-	3	2	EFCAB6	42282289	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.167000	0.31847	2.532000	0.85374	0.655000	0.94253	GAG	EFCAB6	-	NULL		0.542	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		43950956	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43950956	C	G	43950956	3	3	50	1	0	0	0	0	1	0	0	0	4949	912	32	1	1088	1	EFCAB6	22	43950956	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	2378551	43950956	7353610	234	6884										
ZBED4	9889	genome.wustl.edu	37	chr22	50278464	50278464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gccggtcagagagtccccttCggcctcctcctcccctgaca	9	19	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:50278464C>T	ENST00000216268.5	+	2	1631	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	385						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCCCTTCGGCCTCCTCC	0.612																																																	0													51	56	54					22																	50278464		2203	4299	6502	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1154C>T	22.37:g.50278464C>T	ENSP00000216268:p.Ser385Leu		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S385L	ENST00000216268.5	37	c.1154	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135570	0.37728	.	.	ENSG00000100426	ENST00000216268	T	0.41065	1.01	5.18	5.18	0.71444	.	0.385307	0.27327	N	0.019870	T	0.42177	0.1191	L	0.54323	1.7	0.21445	N	0.999686	B	0.26809	0.16	B	0.17722	0.019	T	0.40590	-0.9555	10	0.59425	D	0.04	-14.1376	18.8805	0.92354	0.0:1.0:0.0:0.0	.	385	O75132	ZBED4_HUMAN	L	385	ENSP00000216268:S385L	ENSP00000216268:S385L	S	+	2	0	ZBED4	48664468	0.176000	0.23096	0.081000	0.20488	0.039000	0.13416	1.874000	0.39568	2.707000	0.92482	0.655000	0.94253	TCG	ZBED4	-	NULL		0.612	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	C	NM_014838		50278464	1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	0.170	T	T	50278464	C	T	50278464	3	4	50	1	0	0	0	0	1	0	0	0	17550	893	31	1	1156	1	ZBED4	22	50278464	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	6327508	50278464	1026102	235	6885										
CXorf22	170063	genome.wustl.edu	37	chrX	35993317	35993317	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	tgaactctccaaatactcatCtacttcatgttattaatatg	3	9	4	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:35993317C>G	ENST00000297866.5	+	14	2374	c.2308C>G	c.(2308-2310)Cta>Gta	p.L770V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	770										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATACTCATCTACTTCATGT	0.323																																																	0													104	96	99					X																	35993317		2202	4295	6497	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2308C>G	X.37:g.35993317C>G	ENSP00000297866:p.Leu770Val		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.L770V	ENST00000297866.5	37	c.2308	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	0.535	-0.856226	0.02630	.	.	ENSG00000165164	ENST00000297866	T	0.13778	2.56	5.25	-2.61	0.06171	.	1.016620	0.07873	N	0.968144	T	0.11495	0.0280	M	0.63428	1.95	0.09310	N	1	B	0.27559	0.181	B	0.26693	0.072	T	0.37454	-0.9705	10	0.25106	T	0.35	1.7398	1.8875	0.03241	0.1153:0.2459:0.3349:0.3039	.	770	Q6ZTR5	CX022_HUMAN	V	770	ENSP00000297866:L770V	ENSP00000297866:L770V	L	+	1	2	CXorf22	35903238	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.004000	0.03678	-0.799000	0.04439	-0.279000	0.10071	CTA	CXorf22	-	NULL		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	C	NM_152632		35993317	1	no_errors	ENST00000297866	ensembl	human	known	70_37	missense	SNP	0.000	G	G	35993317	C	G	35993317	3	3	50	1	0	0	0	0	1	0	0	0	4107	912	32	1	2362	1	CXorf22	23	35993317	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09		35993317	119277243	236	6886										
ZNF157	7712	genome.wustl.edu	37	chrX	47270144	47270144	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	gagaagagctgtggatattaGaggaggaatcctcaggccat	14	6	1	3			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:47270144G>C	ENST00000377073.3	+	3	351	c.265G>C	c.(265-267)Gag>Cag	p.E89Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GTGGATATTAGAGGAGGAATC	0.498																																																	0													68	53	58					X																	47270144		2203	4299	6502	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.265G>C	X.37:g.47270144G>C	ENSP00000366273:p.Glu89Gln		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E89Q	ENST00000377073.3	37	c.265	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198584	0.58126	.	.	ENSG00000147117	ENST00000377073	T	0.08193	3.12	3.12	3.12	0.35913	Krueppel-associated box (1);	.	.	.	.	T	0.10165	0.0249	L	0.42744	1.35	0.24330	N	0.995003	D	0.55172	0.97	P	0.45998	0.5	T	0.21348	-1.0248	9	0.28530	T	0.3	.	11.4162	0.49954	0.0:0.0:1.0:0.0	.	89	P51786	ZN157_HUMAN	Q	89	ENSP00000366273:E89Q	ENSP00000366273:E89Q	E	+	1	0	ZNF157	47155088	1.000000	0.71417	0.972000	0.41901	0.968000	0.65278	3.984000	0.56923	1.825000	0.53177	0.500000	0.49745	GAG	ZNF157	-	pfscan_Krueppel-associated_box		0.498	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47270144	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47270144	G	C	47270144	3	2	50	1	0	0	0	0	1	0	0	0	17767	943	33	1	275	1	ZNF157	23	47270144	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	11276827	47270144	108000416	237	6887										
FAM123B	139285	genome.wustl.edu	37	chrX	63412416	63412416	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	atctttacaggccattttctCagtagctggtggagaaggtt	11	7	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:63412416C>T	ENST00000330258.3	-	2	1023	c.751G>A	c.(751-753)Gag>Aag	p.E251K	AMER1_ENST00000374869.3_Missense_Mutation_p.E251K|AMER1_ENST00000403336.1_Missense_Mutation_p.E251K	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	251					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCCATTTTCTCAGTAGCTGGT	0.537																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											98	99	98					X																	63412416		2203	4299	6502	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.751G>A	X.37:g.63412416C>T	ENSP00000329117:p.Glu251Lys		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E251K	ENST00000330258.3	37	c.751	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335174	0.11013	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18016	2.24;2.24;2.24	5.22	3.47	0.39725	.	0.638579	0.16128	N	0.228330	T	0.16599	0.0399	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.30238	-0.9985	10	0.15952	T	0.53	-3.0831	10.0414	0.42160	0.0:0.8305:0.0:0.1695	.	251	Q5JTC6	F123B_HUMAN	K	251	ENSP00000364003:E251K;ENSP00000329117:E251K;ENSP00000384722:E251K	ENSP00000329117:E251K	E	-	1	0	FAM123B	63329141	0.000000	0.05858	0.014000	0.15608	0.044000	0.14063	0.467000	0.22035	0.689000	0.31550	-0.192000	0.12808	GAG	FAM123B	-	pfam_Uncharacterised_FAM123		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	C	NM_152424		63412416	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.022	T	T	63412416	C	T	63412416	3	4	50	1	0	0	0	0	1	0	0	0	5438	835	29	1	2660	1	FAM123B	23	63412416	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	16142272	63412416	91858144	238	6888										
MAGEE1	57692	genome.wustl.edu	37	chrX	75649186	75649186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	catctccttggtgcccacccGcggtaagggatcaagcacct	10	15	2	0			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:75649186G>A	ENST00000361470.2	+	1	1141	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	288	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCCCACCCGCGGTAAGGGA	0.701																																																	0													28	24	25					X																	75649186		2200	4294	6494	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.863G>A	X.37:g.75649186G>A	ENSP00000354912:p.Arg288His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R288H	ENST00000361470.2	37	c.863	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626210	0.46840	.	.	ENSG00000198934	ENST00000361470	T	0.09445	2.98	1.6	-2.61	0.06171	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.01281	0.0	T	0.35151	-0.9800	9	0.54805	T	0.06	.	0.9595	0.01393	0.171:0.3882:0.1684:0.2724	.	288	Q9HCI5	MAGE1_HUMAN	H	288	ENSP00000354912:R288H	ENSP00000354912:R288H	R	+	2	0	MAGEE1	75565590	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.314000	0.01125	-1.692000	0.01428	-1.326000	0.01283	CGC	MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649186	1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.000	A	A	75649186	G	A	75649186	3	1	50	1	0	0	0	0	1	0	0	0	9208	1087	38	2	865	2	MAGEE1	23	75649186	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	12236770	75649186	79621374	239	6889										
MAGT1	84061	genome.wustl.edu	37	chrX	77150969	77150969	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	taggtctgagggtggggcgtGagaacaggcaaatcggcccc	17	9	1	2			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:77150969G>A	ENST00000358075.6	-	1	121	c.35C>T	c.(34-36)tCa>tTa	p.S12L	MAGT1_ENST00000373336.3_5'Flank	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	0					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GGTGGGGCGTGAGAACAGGCA	0.602																																																	0													93	87	88					X																	77150969		692	1591	2283	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.35C>T	X.37:g.77150969G>A	ENSP00000354649:p.Ser12Leu		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.S12L	ENST00000358075.6	37	c.35	CCDS14436.2	X	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922884	0.52653	.	.	ENSG00000102158	ENST00000358075	T	0.45668	0.89	4.58	4.58	0.56647	.	.	.	.	.	T	0.26268	0.0641	N	0.14661	0.345	0.80722	D	1	P	0.41673	0.759	B	0.37943	0.261	T	0.11299	-1.0593	9	0.56958	D	0.05	.	11.7096	0.51618	0.0:0.0:1.0:0.0	.	12	B4DH58	.	L	12	ENSP00000354649:S12L	ENSP00000354649:S12L	S	-	2	0	MAGT1	77037625	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.637000	0.46553	2.246000	0.74042	0.544000	0.68410	TCA	MAGT1	-	NULL		0.602	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	G	NM_032121		77150969	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	missense	SNP	0.998	A	A	77150969	G	A	77150969	3	1	50	1	0	0	0	0	1	0	0	0	9219	1294	45	1	1108	1	MAGT1	23	77150969	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	1501783	77150969	78119591	240	6890										
SRPX2	27286	genome.wustl.edu	37	chrX	99901356	99901356	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	ctcaaagaggagctctctttCtgctgttcttcctaactccg	7	13	4	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:99901356C>G	ENST00000373004.3	+	2	465	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	13					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCTCTCTTTCTGCTGTTCTT	0.468																																																	0													151	130	137					X																	99901356		2203	4300	6503	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.37C>G	X.37:g.99901356C>G	ENSP00000362095:p.Leu13Val		B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L13V	ENST00000373004.3	37	c.37	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	C	8.583	0.882787	0.17467	.	.	ENSG00000102359	ENST00000373004	T	0.31247	1.5	5.91	4.12	0.48240	.	0.158478	0.42682	D	0.000675	T	0.33030	0.0849	N	0.20986	0.625	0.29577	N	0.84943	P	0.52842	0.956	P	0.62184	0.899	T	0.12344	-1.0551	9	.	.	.	-3.9733	7.145	0.25577	0.1676:0.7436:0.0:0.0888	.	13	O60687	SRPX2_HUMAN	V	13	ENSP00000362095:L13V	.	L	+	1	2	SRPX2	99788012	0.895000	0.30542	0.836000	0.33094	0.471000	0.32888	1.061000	0.30542	0.606000	0.29965	0.600000	0.82982	CTG	SRPX2	-	NULL		0.468	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	C	NM_014467		99901356	1	no_errors	ENST00000373004	ensembl	human	known	70_37	missense	SNP	0.957	G	G	99901356	C	G	99901356	3	3	50	1	0	0	0	0	1	0	0	0	15195	912	32	1	39	1	SRPX2	23	99901356	Missense_Mutation	SNP	C	TCGA-C5-A7UH-01A-11D-A351-09	22750387	99901356	55369204	241	6891										
RAB40AL	282808	genome.wustl.edu	37	chrX	102192462	102192462	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aagctctgggatacgtcgggGcagggaagattttgtaccat	14	7	1	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:102192462G>C	ENST00000218249.5	+	1	263	c.216G>C	c.(214-216)ggG>ggC	p.G72G	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	72					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ATACGTCGGGGCAGGGAAGAT	0.572																																																	0													69	70	70					X																	102192462		2203	4297	6500	SO:0001819	synonymous_variant	282808			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.216G>C	X.37:g.102192462G>C			Q495H3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G72	ENST00000218249.5	37	c.216	CCDS35353.1	X																																																																																			RAB40AL	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.572	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40AL	HGNC	protein_coding	OTTHUMT00000057679.1	G	NM_001031834		102192462	1	no_errors	ENST00000218249	ensembl	human	known	70_37	silent	SNP	0.998	C	C	102192462	G	C	102192462	2	2	50	1	0	0	0	0	0	0	0	1	12970	1190	42	4		4	RAB40AL	23	102192462	Silent	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	2291106	102192462	53078098	242	6892										
MCF2	4168	genome.wustl.edu	37	chrX	138678828	138678828	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.4875	117	1.33406427638543e-42	3.92778886463175	5.9775471889588	3.19270312073515	0.00582742183542979	0.0287245937261533	87	aggtgtcgctgcattggtttGaatctagccaaatccttcat	9	9	2	1			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:138678828G>C	ENST00000370576.4	-	19	2366	c.2157C>G	c.(2155-2157)ttC>ttG	p.F719L	MCF2_ENST00000370578.4_Missense_Mutation_p.F864L|MCF2_ENST00000536274.1_Missense_Mutation_p.F680L|MCF2_ENST00000338585.6_Missense_Mutation_p.F735L|MCF2_ENST00000520602.1_Missense_Mutation_p.F779L|MCF2_ENST00000414978.1_Missense_Mutation_p.F779L|MCF2_ENST00000519895.1_Missense_Mutation_p.F795L|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.F719L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	719	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCATTGGTTTGAATCTAGCCA	0.413																																																	0													179	149	159					X																	138678828		2203	4300	6503	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2157C>G	X.37:g.138678828G>C	ENSP00000359608:p.Phe719Leu		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F864L	ENST00000370576.4	37	c.2592	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.081122|4.081122	0.76528|0.76528	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.51817|.	1.25;1.15;1.06;1.24;1.25;0.69;1.32;1.17;1.22|.	5.78|5.78	4.92|4.92	0.64577|0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62792|0.62792	0.2457|0.2457	L|L	0.56280|0.56280	1.765|1.765	0.44462|0.44462	D|D	0.99739|0.99739	P;D;P;P;P;P;D;P|.	0.89917|.	0.943;0.999;0.925;0.943;0.925;0.877;1.0;0.943|.	P;D;P;P;P;B;D;P|.	0.87578|.	0.478;0.994;0.606;0.478;0.508;0.401;0.998;0.478|.	T|T	0.60219|0.60219	-0.7306|-0.7306	10|5	0.35671|.	T|.	0.21|.	.|.	12.7171|12.7171	0.57121|0.57121	0.0803:0.0:0.9197:0.0|0.0803:0.0:0.9197:0.0	.|.	795;864;680;719;719;864;735;719|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	L|E	779;719;680;864;779;322;795;719;735|223	ENSP00000427745:F779L;ENSP00000359608:F719L;ENSP00000438155:F680L;ENSP00000359610:F864L;ENSP00000397055:F779L;ENSP00000405848:F322L;ENSP00000430276:F795L;ENSP00000359605:F719L;ENSP00000342204:F735L|.	ENSP00000342204:F735L|.	F|Q	-|-	3|1	2|0	MCF2|MCF2	138506494|138506494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.820000|4.820000	0.62671|0.62671	1.187000|1.187000	0.43000|0.43000	0.600000|0.600000	0.82982|0.82982	TTC|CAA	MCF2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.413	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	G	NM_005369		138678828	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138678828	G	C	138678828	3	2	50	1	0	0	0	0	1	0	0	0	9401	1281	45	1	676	1	MCF2	23	138678828	Missense_Mutation	SNP	G	TCGA-C5-A7UH-01A-11D-A351-09	36486366	138678828	16591732	243	6893										
KIAA0319L	79932	genome.wustl.edu	37	chr1	35906654	35906654	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cccagggcccctacctgctcGggaggttggcttcagctcca	12	16	1	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:35906654G>A	ENST00000325722.3	-	20	3190	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	KIAA0319L_ENST00000373266.4_Nonsense_Mutation_p.R423*|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	986						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R986R(4)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACCTGCTCGGGAGGTTGGC	0.542																																																	4	Substitution - coding silent(4)	lung(4)											140	129	133					1																	35906654		2203	4300	6503	SO:0001587	stop_gained	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2956C>T	1.37:g.35906654G>A	ENSP00000318406:p.Arg986*		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Nonsense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.R986*	ENST00000325722.3	37	c.2956	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841592	0.51057	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	.	.	.	4.73	2.67	0.31697	.	0.468547	0.21526	N	0.073127	.	.	.	.	.	.	0.48087	D	0.999581	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-7.1625	9.9892	0.41860	0.0:0.0:0.521:0.479	.	.	.	.	X	986;423;986	.	ENSP00000318406:R986X	R	-	1	2	KIAA0319L	35679241	1.000000	0.71417	0.531000	0.27976	0.030000	0.12068	3.684000	0.54671	1.199000	0.43173	-0.310000	0.09108	CGA	KIAA0319L	-	NULL		0.542	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	G	NM_024874		35906654	-1	no_errors	ENST00000325722	ensembl	human	known	70_37	nonsense	SNP	0.422	A	A	35906654	G	A	35906654	4	1	51	1	0	0	0	0	0	1	0	0	8189	1124	39	2	201	2	KIAA0319L	1	35906654	Nonsense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		35906654	213343967	1	6894										
MRPL37	51253	genome.wustl.edu	37	chr1	54683899	54683899	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cattcagaaagtttttagctCtatatttgcatggtgctgcg	9	7	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:54683899C>G	ENST00000360840.5	+	7	1326	c.1249C>G	c.(1249-1251)Cta>Gta	p.L417V	MRPL37_ENST00000336230.6_Missense_Mutation_p.L286V|MRPL37_ENST00000605337.1_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	417					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GTTTTTAGCTCTATATTTGCA	0.527																																																	0													182	191	188					1																	54683899		2203	4300	6503	SO:0001583	missense	51253			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1249C>G	1.37:g.54683899C>G	ENSP00000354086:p.Leu417Val		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.L417V	ENST00000360840.5	37	c.1249	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904886	0.33628	.	.	ENSG00000116221	ENST00000360840;ENST00000336230	T;T	0.16597	2.33;2.33	4.94	-0.418	0.12344	.	0.283582	0.34750	N	0.003713	T	0.23370	0.0565	M	0.68952	2.095	0.36685	D	0.879244	P;D	0.56968	0.88;0.978	P;P	0.54499	0.573;0.754	T	0.13415	-1.0510	10	0.54805	T	0.06	-11.6484	4.028	0.09697	0.2424:0.4007:0.0:0.3568	.	286;417	A6NHR2;Q9BZE1	.;RM37_HUMAN	V	417;286	ENSP00000354086:L417V;ENSP00000338526:L286V	ENSP00000338526:L286V	L	+	1	2	MRPL37	54456487	0.023000	0.18921	0.993000	0.49108	0.102000	0.19082	0.065000	0.14466	0.031000	0.15407	-0.216000	0.12614	CTA	MRPL37	-	pfam_Ribosomal_L37/S30		0.527	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	C	NM_016491		54683899	1	no_errors	ENST00000360840	ensembl	human	known	70_37	missense	SNP	0.554	G	G	54683899	C	G	54683899	3	3	51	1	0	0	0	0	1	0	0	0	9823	912	32	1	1275	1	MRPL37	1	54683899	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	18777245	54683899	194566722	2	6895										
TNNI3K	51086	genome.wustl.edu	37	chr1	75009599	75009599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ttctgatgcaggctatgtatCcgatcccatgagctcaatgc	9	11	2	2	rs267598715		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:75009599C>A	ENST00000326637.3	+	25	2492	c.2441C>A	c.(2440-2442)tCc>tAc	p.S814Y	TNNI3K_ENST00000370891.2_Missense_Mutation_p.S915Y|TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.S928Y	NM_015978.2	NP_057062.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GGCTATGTATCCGATCCCATG	0.433																																																	0													143	118	127					1																	75009599		2203	4300	6503	SO:0001583	missense	51086			AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2441C>A	1.37:g.75009599C>A	ENSP00000322251:p.Ser814Tyr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,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,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S915Y	ENST00000326637.3	37	c.2744	CCDS664.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318401	0.40996	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.76839	-1.05;-1.05;-1.03	5.32	2.34	0.29019	.	0.134965	0.50627	D	0.000107	T	0.71937	0.3399	L	0.32530	0.975	0.36891	D	0.889907	D;P	0.65815	0.995;0.693	D;P	0.75484	0.986;0.46	T	0.74383	-0.3683	10	0.72032	D	0.01	.	8.7555	0.34643	0.0:0.6367:0.2848:0.0785	.	814;915	Q59H18;Q59H18-1	TNI3K_HUMAN;.	Y	915;915;814	ENSP00000450895:S915Y;ENSP00000359928:S915Y;ENSP00000322251:S814Y	ENSP00000322251:S814Y	S	+	2	0	RP11-653A5.2;AC093158.1	74782187	1.000000	0.71417	0.960000	0.40013	0.451000	0.32288	3.608000	0.54109	0.298000	0.22638	-0.291000	0.09656	TCC	TNNI3K	-	NULL		0.433	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3K	HGNC	protein_coding	OTTHUMT00000026432.1	C	NM_015978		75009599	1	no_errors	ENST00000370891	ensembl	human	known	70_37	missense	SNP	0.974	A	A	75009599	C	A	75009599	3	1	51	1	0	0	0	0	1	0	0	0	16359	855	30	3	2894	3	TNNI3K	1	75009599	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	20325700	75009599	174241022	3	6896										
TOR1AIP1	26092	genome.wustl.edu	37	chr1	179851995	179851995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	agccgcgaccccaggaaaccGaggaaatgaagacgcgaagg	14	11	0	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:179851995G>A	ENST00000606911.2	+	1	549	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E120K|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E120K|TOR1AIP1_ENST00000435319.4_5'UTR|RP11-533E19.7_ENST00000610272.1_lincRNA			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	120					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCAGGAAACCGAGGAAATGAA	0.597																																																	0													47	56	53					1																	179851995		2203	4300	6503	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.358G>A	1.37:g.179851995G>A	ENSP00000476687:p.Glu120Lys		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.E120K	ENST00000606911.2	37	c.358	CCDS1335.1	1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010206	0.19277	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.25579	1.79;1.79;1.81	4.96	1.73	0.24493	.	1.378690	0.04789	N	0.431220	T	0.18467	0.0443	L	0.32530	0.975	0.09310	N	1	P;D	0.52996	0.913;0.957	B;B	0.36464	0.121;0.225	T	0.27468	-1.0073	10	0.51188	T	0.08	0.1579	7.32	0.26521	0.3115:0.0:0.6885:0.0	.	120;120	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	K	120	ENSP00000435365:E120K;ENSP00000271583:E120K;ENSP00000393292:E120K	ENSP00000271583:E120K	E	+	1	0	TOR1AIP1	178118618	0.817000	0.29147	0.006000	0.13384	0.010000	0.07245	2.324000	0.43831	0.137000	0.18759	0.655000	0.94253	GAG	TOR1AIP1	-	NULL		0.597	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	HGNC	protein_coding	OTTHUMT00000100313.4	G	NM_015602		179851995	1	no_errors	ENST00000435319	ensembl	human	known	70_37	missense	SNP	0.004	A	A	179851995	G	A	179851995	3	1	51	1	0	0	0	0	1	0	0	0	16403	1059	37	1	360	1	TOR1AIP1	1	179851995	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	104842396	179851995	69398626	4	6897										
FMN2	56776	genome.wustl.edu	37	chr1	240256097	240256097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	agcagcagctccagggcgccGaggagcctgcagcgcccccc	14	18	0	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:240256097G>A	ENST00000319653.9	+	1	918	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	230					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAGGGCGCCGAGGAGCCTGC	0.721																																																	0													7	9	8					1																	240256097		2151	4205	6356	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.688G>A	1.37:g.240256097G>A	ENSP00000318884:p.Glu230Lys		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.E230K	ENST00000319653.9	37	c.688	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585257	0.28268	.	.	ENSG00000155816	ENST00000319653	T	0.29917	1.55	4.34	2.22	0.28083	.	0.458425	0.20523	N	0.090680	T	0.23249	0.0562	L	0.47716	1.5	0.09310	N	0.999997	B	0.22211	0.066	B	0.14023	0.01	T	0.13656	-1.0501	10	0.34782	T	0.22	.	7.8647	0.29530	0.0:0.1773:0.6397:0.1829	.	230	Q9NZ56	FMN2_HUMAN	K	230	ENSP00000318884:E230K	ENSP00000318884:E230K	E	+	1	0	FMN2	238322720	0.916000	0.31088	0.897000	0.35233	0.921000	0.55340	1.518000	0.35877	0.917000	0.36895	0.456000	0.33151	GAG	FMN2	-	NULL		0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240256097	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.093	A	A	240256097	G	A	240256097	3	1	51	1	0	0	0	0	1	0	0	0	5968	1059	37	1	690	1	FMN2	1	240256097	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	60404102	240256097	8994524	5	6898										
ZNF496	84838	genome.wustl.edu	37	chr1	247492545	247492545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gcctccaccgcggccacagcCtgctctccgctctcaggctc	9	21	2	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:247492545C>T	ENST00000294753.4	-	3	800	c.336G>A	c.(334-336)caG>caA	p.Q112Q	ZNF496_ENST00000366498.2_Silent_p.Q112Q	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	112	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGGCCACAGCCTGCTCTCCGC	0.657																																																	0													31	36	35					1																	247492545		2203	4300	6503	SO:0001819	synonymous_variant	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.336G>A	1.37:g.247492545C>T			Q8TBS2	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q112	ENST00000294753.4	37	c.336	CCDS1631.1	1																																																																																			ZNF496	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.657	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	C	NM_032752		247492545	-1	no_errors	ENST00000366498	ensembl	human	known	70_37	silent	SNP	1.000	T	T	247492545	C	T	247492545	2	4	51	1	0	0	0	0	0	0	0	1	17975	680	24	4		4	ZNF496	1	247492545	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	7236448	247492545	1758076	6	6899										
CRIM1	51232	genome.wustl.edu	37	chr2	36739535	36739535	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ctgtcttatctgcaagtgcaGaggtaagtgtgtacacatgg	12	7	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:36739535G>C	ENST00000280527.2	+	10	2145	c.1778G>C	c.(1777-1779)aGa>aCa	p.R593T	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	593					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGCAAGTGCAGAGGTAAGTGT	0.517																																																	0													123	117	119					2																	36739535		2203	4300	6503	SO:0001583	missense	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1778G>C	2.37:g.36739535G>C	ENSP00000280527:p.Arg593Thr		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.R593T	ENST00000280527.2	37	c.1778	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267059	0.59540	.	.	ENSG00000150938	ENST00000280527	T	0.04706	3.57	5.71	5.71	0.89125	Proteinase inhibitor I14/I15, hirudin/antistatin (1);Proteinase inhibitor I15, antistasin (1);	0.049459	0.85682	D	0.000000	T	0.09202	0.0227	M	0.78049	2.395	0.47547	D	0.999458	P	0.40144	0.704	B	0.35182	0.197	T	0.32052	-0.9921	10	0.17369	T	0.5	-14.5238	18.846	0.92208	0.0:0.0:1.0:0.0	.	593	Q9NZV1	CRIM1_HUMAN	T	593	ENSP00000280527:R593T	ENSP00000280527:R593T	R	+	2	0	CRIM1	36593039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.922000	0.56462	2.687000	0.91594	0.655000	0.94253	AGA	CRIM1	-	superfamily_Prot_inh_I14/15_hirudin/antisn		0.517	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	G	NM_016441		36739535	1	no_errors	ENST00000280527	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36739535	G	C	36739535	3	2	51	1	0	0	0	0	1	0	0	0	3878	942	33	1	1816	1	CRIM1	2	36739535	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		36739535	206459838	7	6900										
GAD1	2571	genome.wustl.edu	37	chr2	171678647	171678647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gatgcaccagaaaactggggCtcaagatctgcggtaagtga	13	8	2	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:171678647C>G	ENST00000358196.3	+	3	683	c.133C>G	c.(133-135)Ctc>Gtc	p.L45V	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L45V|GAD1_ENST00000344257.5_Missense_Mutation_p.L45V	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	45					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AAAACTGGGGCTCAAGATCTG	0.662																																																	0													53	46	48					2																	171678647		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.133C>G	2.37:g.171678647C>G	ENSP00000350928:p.Leu45Val		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L45V	ENST00000358196.3	37	c.133	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275128	0.40194	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T	0.78707	-1.2;2.39;0.52;0.52;-1.07;-1.06	5.18	5.18	0.71444	.	0.224693	0.46442	D	0.000295	T	0.61185	0.2327	N	0.22421	0.69	0.42899	D	0.994222	B;B	0.33171	0.0;0.4	B;B	0.28011	0.002;0.085	T	0.62077	-0.6930	10	0.02654	T	1	-11.8315	17.0382	0.86482	0.0:1.0:0.0:0.0	.	45;45	Q99259;Q99259-3	DCE1_HUMAN;.	V	45	ENSP00000402366:L45V;ENSP00000350928:L45V;ENSP00000364421:L45V;ENSP00000341167:L45V;ENSP00000405917:L45V;ENSP00000394255:L45V	ENSP00000341167:L45V	L	+	1	0	GAD1	171386893	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.471000	0.60182	2.696000	0.92011	0.561000	0.74099	CTC	GAD1	-	NULL		0.662	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	C			171678647	1	no_errors	ENST00000358196	ensembl	human	known	70_37	missense	SNP	0.999	G	G	171678647	C	G	171678647	3	3	51	1	0	0	0	0	1	0	0	0	6197	797	28	4	139	4	GAD1	2	171678647	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	134939112	171678647	71520726	8	6901										
INPP5D	3635	genome.wustl.edu	37	chr2	234112927	234112927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ggaatcccccaaaatgccgcGgaaggaacccccgccctgcc	10	18	0	0	rs201032928		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:234112927G>A	ENST00000359570.5	+	28	3095	c.3095G>A	c.(3094-3096)cGg>cAg	p.R1032Q	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Missense_Mutation_p.R796Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.R796Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1044	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAAATGCCGCGGAAGGAACCC	0.642																																					NSCLC(82;1215 1426 16163 20348 41018)												0								G	GLN/ARG,GLN/ARG	0,3824		0,0,1912	35	45	42		2391,2391	3	0.4	2		42	4,8228		0,4,4112	yes	missense,missense	INPP5D	NM_001017915.1,NM_005541.3	43,43	0,4,6024	AA,AG,GG		0.0486,0.0,0.0332	possibly-damaging,possibly-damaging	1044/1190,1043/1189	234112927	4,12052	1912	4116	6028	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3095G>A	2.37:g.234112927G>A	ENSP00000352575:p.Arg1032Gln		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.R1032Q	ENST00000359570.5	37	c.3095		2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241063	0.58995	0.0	4.86E-4	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96745	-4.07;-4.1;-4.1;-4.11;-4.11;-4.11	4.83	2.99	0.34606	.	0.376195	0.27856	N	0.017577	D	0.93245	0.7848	.	.	.	0.24107	N	0.995856	P;P	0.50443	0.935;0.893	P;B	0.44623	0.455;0.267	D	0.86258	0.1653	9	0.31617	T	0.26	.	7.9029	0.29744	0.0867:0.1615:0.7518:0.0	.	1043;1044	Q92835-2;Q92835	.;SHIP1_HUMAN	Q	1032;796;796;665;665;665	ENSP00000352575:R1032Q;ENSP00000407916:R796Q;ENSP00000404610:R796Q;ENSP00000400151:R665Q;ENSP00000397421:R665Q;ENSP00000405338:R665Q	ENSP00000352575:R1032Q	R	+	2	0	INPP5D	233777666	1.000000	0.71417	0.433000	0.26760	0.940000	0.58332	4.462000	0.60121	0.527000	0.28560	0.655000	0.94253	CGG	INPP5D	-	NULL		0.642	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		G	NM_001017915		234112927	1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	0.963	A	A	234112927	G	A	234112927	3	1	51	1	0	0	0	0	1	0	0	0	7776	1116	39	2	2741	2	INPP5D	2	234112927	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	62434280	234112927	9086446	9	6902										
SCN10A	6336	genome.wustl.edu	37	chr3	38768438	38768438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	atggccaaagacctggatccGtgccagggccacctgcaggt	13	13	0	1	rs370208223		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:38768438G>A	ENST00000449082.2	-	16	2745	c.2746C>T	c.(2746-2748)Cgg>Tgg	p.R916W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	916			R -> W (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.		AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R916W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCTGGATCCGTGCCAGGGCC	0.582																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)						G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	126	122	123		2746	1.9	0.6	3		123	2,8598	1.2+/-3.3	0,2,4298	no	missense	SCN10A	NM_006514.2	101	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	probably-damaging	916/1957	38768438	5,13001	2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2746C>T	3.37:g.38768438G>A	ENSP00000390600:p.Arg916Trp		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.R916W	ENST00000449082.2	37	c.2746	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564211	0.65651	6.81E-4	2.33E-4	ENSG00000185313	ENST00000449082	D	0.98120	-4.73	5.03	1.91	0.25777	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.87617	2.895	0.43191	D	0.99502	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	.	14.6725	0.68956	0.0:0.0:0.5126:0.4874	.	916	Q9Y5Y9	SCNAA_HUMAN	W	916	ENSP00000390600:R916W	ENSP00000390600:R916W	R	-	1	2	SCN10A	38743442	0.622000	0.27085	0.600000	0.28864	0.844000	0.47949	0.864000	0.27926	0.674000	0.31244	0.561000	0.74099	CGG	SCN10A	-	pfam_Na_trans_assoc		0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	G	NM_006514		38768438	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	0.747	A	A	38768438	G	A	38768438	3	1	51	1	0	0	0	0	1	0	0	0	13942	1144	40	2	3172	2	SCN10A	3	38768438	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		38768438	159253992	10	6903										
SEMA3G	56920	genome.wustl.edu	37	chr3	52476766	52476766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ctgccagtccagctcacctcCcggggatctggccatgcctg	11	17	2	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:52476766C>T	ENST00000231721.2	-	2	272	c.273G>A	c.(271-273)cgG>cgA	p.R91R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	91	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGCTCACCTCCCGGGGATCTG	0.617																																																	0													45	48	47					3																	52476766		2203	4300	6503	SO:0001819	synonymous_variant	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.273G>A	3.37:g.52476766C>T			Q7L9D9|Q9H7Q3	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R91	ENST00000231721.2	37	c.273	CCDS2856.1	3																																																																																			SEMA3G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	C	NM_020163		52476766	-1	no_errors	ENST00000231721	ensembl	human	known	70_37	silent	SNP	0.971	T	T	52476766	C	T	52476766	2	4	51	1	0	0	0	0	0	0	0	1	14060	610	22	4		4	SEMA3G	3	52476766	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	13708328	52476766	145545664	11	6904										
C3orf67	200844	genome.wustl.edu	37	chr3	58817516	58817516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	caggccatgggaggtcccagCatcctccagttcttcatttt	9	13	2	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:58817516C>A	ENST00000482387.1	-	10	1792	c.1696G>T	c.(1696-1698)Gct>Tct	p.A566S	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.A440S|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	566										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GAGGTCCCAGCATCCTCCAGT	0.527																																																	0													213	161	179					3																	58817516		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1696G>T	3.37:g.58817516C>A	ENSP00000417122:p.Ala566Ser		B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.A566S	ENST00000482387.1	37	c.1696		3	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979855	0.18812	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.16597	2.34;2.33	5.92	-11.8	0.00035	.	0.815458	0.11340	N	0.574135	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.16453	-1.0402	9	.	.	.	0.089	2.7753	0.05346	0.1412:0.3363:0.1415:0.3809	.	440;566	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	S	440;566	ENSP00000295966:A440S;ENSP00000417122:A566S	.	A	-	1	0	C3orf67	58792556	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-2.467000	0.00993	-1.820000	0.01215	-0.470000	0.05040	GCT	C3orf67	-	NULL		0.527	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	C	NM_198463		58817516	-1	no_errors	ENST00000482387	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58817516	C	A	58817516	3	1	51	1	0	0	0	0	1	0	0	0	2246	710	25	4	389	4	C3orf67	3	58817516	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	6340750	58817516	139204914	12	6905										
FOXP1	27086	genome.wustl.edu	37	chr3	71090577	71090577	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ggtgcagaggaggagacacaTgtcgtggtcagatccaaact	14	8	1	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:71090577T>A	ENST00000318789.4	-	11	1296	c.771A>T	c.(769-771)acA>acT	p.T257T	FOXP1_ENST00000491238.1_Silent_p.T259T|FOXP1_ENST00000475937.1_Silent_p.T257T|FOXP1_ENST00000498215.1_Silent_p.T257T|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Silent_p.T257T|FOXP1_ENST00000484350.1_Silent_p.T181T|FOXP1_ENST00000468577.1_Silent_p.T257T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	257					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGAGACACATGTCGTGGTCA	0.488			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													292	245	261					3																	71090577		2203	4300	6503	SO:0001819	synonymous_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.771A>T	3.37:g.71090577T>A			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T257	ENST00000318789.4	37	c.771	CCDS2914.1	3																																																																																			FOXP1	-	NULL		0.488	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	T	NM_032682		71090577	-1	no_errors	ENST00000318789	ensembl	human	known	70_37	silent	SNP	0.997	A	A	71090577	T	A	71090577	2	1	51	1	0	0	0	0	0	0	0	1	6044	1451	51	5		5	FOXP1	3	71090577	Silent	SNP	T	TCGA-C5-A7X3-01A-11D-A351-09	12273061	71090577	126931853	13	6906										
GOLGB1	2804	genome.wustl.edu	37	chr3	121417605	121417605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	atgatctgcttcctcagcccTttttccctggagctgtaatt	7	12	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:121417605T>C	ENST00000340645.5	-	13	1875	c.1750A>G	c.(1750-1752)Agg>Ggg	p.R584G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R589G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	584					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R584G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTCAGCCCTTTTTCCCTGG	0.363																																																	1	Substitution - Missense(1)	prostate(1)											82	85	84					3																	121417605		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1750A>G	3.37:g.121417605T>C	ENSP00000341848:p.Arg584Gly		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R584G	ENST00000340645.5	37	c.1750	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	5.981	0.364872	0.11296	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23348	2.49;2.49;1.91	5.43	4.25	0.50352	.	0.457306	0.22595	N	0.058022	T	0.25901	0.0631	L	0.57536	1.79	0.09310	N	1	P;P;P;P;B	0.39480	0.493;0.675;0.675;0.675;0.287	B;B;B;B;B	0.39379	0.079;0.298;0.154;0.154;0.053	T	0.09530	-1.0670	10	0.35671	T	0.21	.	9.7072	0.40222	0.0:0.0:0.339:0.661	.	509;548;589;589;584	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	G	584;589;548;396	ENSP00000341848:R584G;ENSP00000377275:R589G;ENSP00000418231:R548G	ENSP00000341848:R584G	R	-	1	2	GOLGB1	122900295	0.528000	0.26314	0.695000	0.30226	0.589000	0.36550	1.134000	0.31442	1.033000	0.39918	0.533000	0.62120	AGG	GOLGB1	-	NULL		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121417605	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.177	C	C	121417605	T	C	121417605	3	2	51	1	0	0	0	0	1	0	0	0	6584	1608	56	5	8069	5	GOLGB1	3	121417605	Missense_Mutation	SNP	T	TCGA-C5-A7X3-01A-11D-A351-09	50327028	121417605	76604825	14	6907										
ARFIP1	27236	genome.wustl.edu	37	chr4	153831234	153831234	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aggttaaagtattgcacaatCagctggtccttttccacaat	7	9	1	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr4:153831234C>T	ENST00000451320.2	+	9	1149	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	ARFIP1_ENST00000356064.3_Nonsense_Mutation_p.Q297*|ARFIP1_ENST00000405727.2_Nonsense_Mutation_p.Q297*|ARFIP1_ENST00000429148.2_Nonsense_Mutation_p.Q149*|ARFIP1_ENST00000353617.2_Nonsense_Mutation_p.Q329*			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	329	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATTGCACAATCAGCTGGTCCT	0.388																																																	0													143	138	140					4																	153831234		2203	4300	6503	SO:0001587	stop_gained	27236			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"arfaptin 1"	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.985C>T	4.37:g.153831234C>T	ENSP00000395083:p.Gln329*		Q2M2X4|Q3SYL4|Q9Y2X6	Nonsense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.Q329*	ENST00000451320.2	37	c.985	CCDS34080.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.720549	0.96839	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.0037	20.1001	0.97870	0.0:1.0:0.0:0.0	.	.	.	.	X	329;149;329;297;297	.	ENSP00000296557:Q329X	Q	+	1	0	ARFIP1	154050684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.760000	0.94817	0.655000	0.94253	CAG	ARFIP1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.388	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1	C	NM_014447		153831234	1	no_errors	ENST00000353617	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	153831234	C	T	153831234	4	4	51	1	0	0	0	0	0	1	0	0	854	827	29	1	1015	1	ARFIP1	4	153831234	Nonsense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		153831234	37323042	15	6908										
LIFR	3977	genome.wustl.edu	37	chr5	38511901	38511901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tataagcttacaagaaatgtTcttcacagggctccagtcac	7	10	3	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr5:38511901T>C	ENST00000263409.4	-	6	889	c.727A>G	c.(727-729)Aac>Gac	p.N243D	LIFR_ENST00000453190.2_Missense_Mutation_p.N243D|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	243					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAAGAAATGTTCTTCACAGGG	0.348			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													59	59	59					5																	38511901		2203	4300	6503	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.727A>G	5.37:g.38511901T>C	ENSP00000263409:p.Asn243Asp		Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N243D	ENST00000263409.4	37	c.727	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403682	0.42613	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.29142	1.58;1.58	5.7	5.7	0.88788	.	0.380659	0.27861	N	0.017555	T	0.26195	0.0639	L	0.50919	1.6	0.31431	N	0.673184	B	0.25743	0.133	B	0.18263	0.021	T	0.22626	-1.0211	10	0.14252	T	0.57	-14.1854	12.3548	0.55169	0.0:0.0:0.0:1.0	.	243	P42702	LIFR_HUMAN	D	243	ENSP00000263409:N243D;ENSP00000398368:N243D	ENSP00000263409:N243D	N	-	1	0	LIFR	38547658	0.996000	0.38824	0.983000	0.44433	0.889000	0.51656	4.481000	0.60250	2.183000	0.69458	0.477000	0.44152	AAC	LIFR	-	NULL		0.348	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	T	NM_002310		38511901	-1	no_errors	ENST00000263409	ensembl	human	known	70_37	missense	SNP	0.886	C	C	38511901	T	C	38511901	3	2	51	1	0	0	0	0	1	0	0	0	8800	1783	62	5	2626	5	LIFR	5	38511901	Missense_Mutation	SNP	T	TCGA-C5-A7X3-01A-11D-A351-09		38511901	142403359	16	6909										
CLTB	1212	genome.wustl.edu	37	chr5	175819939	175819939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ttccttcacgaaagcctcctCggatgccctgcgggtggaga	12	13	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr5:175819939C>T	ENST00000310418.4	-	6	731	c.526G>A	c.(526-528)Gag>Aag	p.E176K	CLTB_ENST00000345807.2_Missense_Mutation_p.E158K	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	176					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)	p.E176*(1)		lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.098)		AAAGCCTCCTCGGATGCCCTG	0.592																																																	1	Substitution - Nonsense(1)	lung(1)											206	191	196					5																	175819939		2203	4300	6503	SO:0001583	missense	1212			M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.526G>A	5.37:g.175819939C>T	ENSP00000309415:p.Glu176Lys		Q53Y37|Q6FHW1	Missense_Mutation	SNP	pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C	p.E176K	ENST00000310418.4	37	c.526	CCDS4403.1	5	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523711	0.85600	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	5.14	5.14	0.70334	.	0.050789	0.85682	D	0.000000	T	0.79293	0.4421	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.969;0.972	T	0.81261	-0.1013	9	0.59425	D	0.04	.	18.6625	0.91475	0.0:1.0:0.0:0.0	.	158;176	P09497-2;P09497	.;CLCB_HUMAN	K	176;158	.	ENSP00000309415:E176K	E	-	1	0	CLTB	175752545	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.792000	0.85828	2.394000	0.81467	0.650000	0.86243	GAG	CLTB	-	pfam_Clathrin_L-chain		0.592	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLTB	HGNC	protein_coding	OTTHUMT00000253153.1	C			175819939	-1	no_errors	ENST00000310418	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175819939	C	T	175819939	3	4	51	1	0	0	0	0	1	0	0	0	3570	893	31	1	167	1	CLTB	5	175819939	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	137308038	175819939	5095321	17	6910										
SERPINB1	1992	genome.wustl.edu	37	chr6	2836122	2836122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cgtggactcgtcctcaatgtCatccggcagcaggatgacca	11	13	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr6:2836122C>T	ENST00000380739.5	-	6	905	c.703G>A	c.(703-705)Gac>Aac	p.D235N	SERPINB1_ENST00000476896.1_5'Flank|SERPINB1_ENST00000537185.1_Missense_Mutation_p.D84N	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	235					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCCTCAATGTCATCCGGCAGC	0.532																																																	0													98	84	89					6																	2836122		2203	4300	6503	SO:0001583	missense	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.703G>A	6.37:g.2836122C>T	ENSP00000370115:p.Asp235Asn		A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D235N	ENST00000380739.5	37	c.703	CCDS4477.1	6	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953300	0.34471	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	T;T	0.17370	2.28;2.75	5.36	5.36	0.76844	Serpin domain (3);	0.158999	0.56097	D	0.000036	T	0.09686	0.0238	L	0.53671	1.685	0.43902	D	0.996531	B	0.13594	0.008	B	0.16289	0.015	T	0.02603	-1.1135	10	0.51188	T	0.08	.	11.8697	0.52513	0.0:0.9199:0.0:0.0801	.	235	P30740	ILEU_HUMAN	N	235;197;84	ENSP00000370115:D235N;ENSP00000444543:D84N	ENSP00000370115:D235N	D	-	1	0	SERPINB1	2781121	0.451000	0.25705	0.784000	0.31847	0.041000	0.13682	1.239000	0.32719	2.683000	0.91414	0.655000	0.94253	GAC	SERPINB1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.532	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1	C			2836122	-1	no_errors	ENST00000380739	ensembl	human	known	70_37	missense	SNP	0.997	T	T	2836122	C	T	2836122	3	4	51	1	0	0	0	0	1	0	0	0	14126	826	29	1	444	1	SERPINB1	6	2836122	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		2836122	168278945	18	6911										
EIF2AK1	27102	genome.wustl.edu	37	chr7	6084230	6084230	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tgaacatgttctatccacgcGgtgtgatagccaacaatatt	8	9	1	2	rs138001475		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:6084230G>T	ENST00000199389.6	-	7	839	c.693C>A	c.(691-693)acC>acA	p.T231T	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T107T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTATCCACGCGGTGTGATAGC	0.473																																																	0													106	88	94					7																	6084230		2203	4300	6503	SO:0001819	synonymous_variant	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.693C>A	7.37:g.6084230G>T			A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T231	ENST00000199389.6	37	c.693	CCDS5345.1	7																																																																																			EIF2AK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.473	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	G	NM_014413		6084230	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	silent	SNP	0.135	T	T	6084230	G	T	6084230	2	4	51	1	0	0	0	0	0	0	0	1	5006	1103	39	2		2	EIF2AK1	7	6084230	Silent	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		6084230	153054433	19	6912										
PCLO	27445	genome.wustl.edu	37	chr7	82764156	82764156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tcccagattcagactgaaacGccttgactgctcctgaggct	9	13	1	5			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:82764156G>A	ENST00000333891.9	-	3	3047	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	PCLO_ENST00000423517.2_Missense_Mutation_p.R904C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAAACGCCTTGACTGC	0.542																																																	0													148	146	146					7																	82764156		1955	4158	6113	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2710C>T	7.37:g.82764156G>A	ENSP00000334319:p.Arg904Cys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R904C	ENST00000333891.9	37	c.2710	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773631	0.31411	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.23;2.22	5.97	5.97	0.96955	.	.	.	.	.	T	0.34919	0.0914	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53861	0.736;0.736	T	0.01771	-1.1277	9	0.87932	D	0	.	19.412	0.94677	0.0:0.0:1.0:0.0	.	904;904	Q9Y6V0-5;Q9Y6V0-6	.;.	C	850;904;904	ENSP00000334319:R904C;ENSP00000388393:R904C	ENSP00000334319:R904C	R	-	1	0	PCLO	82602092	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	3.125000	0.50469	2.828000	0.97474	0.655000	0.94253	CGT	PCLO	-	NULL		0.542	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82764156	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82764156	G	A	82764156	3	1	51	1	0	0	0	0	1	0	0	0	11607	1087	38	2	12827	2	PCLO	7	82764156	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	76679926	82764156	76374507	20	6913										
CLCN1	1180	genome.wustl.edu	37	chr7	143029958	143029958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tcatcatctttctcttcttcGtcatgaaggtactgctcctg	6	12	6	1	rs139158852	byFrequency	TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:143029958G>A	ENST00000343257.2	+	12	1480	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	465					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V465I(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTCTTCTTCGTCATGAAGGT	0.502																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	170	152	158		1393	-8	0	7	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLCN1	NM_000083.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	465/989	143029958	2,13004	2203	4300	6503	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1393G>A	7.37:g.143029958G>A	ENSP00000339867:p.Val465Ile		A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.V465I	ENST00000343257.2	37	c.1393	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	0.390	-0.924078	0.02377	2.27E-4	1.16E-4	ENSG00000188037	ENST00000343257	D	0.94723	-3.5	5.76	-7.96	0.01144	Chloride channel, core (2);	0.539393	0.21340	N	0.076146	T	0.81777	0.4894	N	0.21545	0.675	0.21782	N	0.999549	B	0.15141	0.012	B	0.18263	0.021	T	0.76214	-0.3041	10	0.05525	T	0.97	.	5.5257	0.16957	0.2024:0.2907:0.4215:0.0854	.	465	P35523	CLCN1_HUMAN	I	465	ENSP00000339867:V465I	ENSP00000339867:V465I	V	+	1	0	CLCN1	142740080	0.000000	0.05858	0.003000	0.11579	0.188000	0.23474	-1.717000	0.01876	-1.670000	0.01468	-1.892000	0.00534	GTC	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.502	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	G	NM_000083		143029958	1	no_errors	ENST00000343257	ensembl	human	known	70_37	missense	SNP	0.000	A	A	143029958	G	A	143029958	3	1	51	1	0	0	0	0	1	0	0	0	3467	1145	40	2	1439	2	CLCN1	7	143029958	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	60265802	143029958	16108705	21	6914										
TNKS	8658	genome.wustl.edu	37	chr8	9538266	9538266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aagaaaaactaatggctttaCtgactcctctaaatgtgaat	6	7	1	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr8:9538266C>T	ENST00000310430.6	+	5	1089	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	TNKS_ENST00000518281.1_Silent_p.L118L|TNKS_ENST00000520408.1_Silent_p.L355L|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	355					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AATGGCTTTACTGACTCCTCT	0.299																																																	0													90	96	94					8																	9538266		2203	4299	6502	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1063C>T	8.37:g.9538266C>T			O95272|Q4G0F2	Silent	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.L355	ENST00000310430.6	37	c.1063	CCDS5974.1	8																																																																																			TNKS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.299	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9538266	1	no_errors	ENST00000310430	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9538266	C	T	9538266	2	4	51	1	0	0	0	0	0	0	0	1	16349	564	20	4		4	TNKS	8	9538266	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		9538266	136825756	22	6915										
CDH17	1015	genome.wustl.edu	37	chr8	95164278	95164278	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tacttcacaccaaacactagAggctcaggattttctgcttt	6	11	3	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr8:95164278A>C	ENST00000027335.3	-	13	1738	c.1614T>G	c.(1612-1614)ccT>ccG	p.P538P	CDH17_ENST00000450165.2_Silent_p.P538P|CDH17_ENST00000441892.2_Silent_p.P324P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAACACTAGAGGCTCAGGAT	0.403																																																	0													111	105	107					8																	95164278		2203	4300	6503	SO:0001819	synonymous_variant	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1614T>G	8.37:g.95164278A>C			Q15336|Q2M2E0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P538	ENST00000027335.3	37	c.1614	CCDS6260.1	8																																																																																			CDH17	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	A	NM_004063		95164278	-1	no_errors	ENST00000027335	ensembl	human	known	70_37	silent	SNP	0.996	C	C	95164278	A	C	95164278	2	2	51	1	0	0	0	0	0	0	0	1	3107	291	11	5		5	CDH17	8	95164278	Silent	SNP	A	TCGA-C5-A7X3-01A-11D-A351-09	85626012	95164278	51199744	23	6916										
SCRIB	23513	genome.wustl.edu	37	chr8	144877630	144877630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tcagctcccggtcgatggaaGagatgctctccaggctgttc	12	12	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr8:144877630G>C	ENST00000320476.3	-	25	3680	c.3674C>G	c.(3673-3675)tCt>tGt	p.S1225C	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Missense_Mutation_p.S1225C|SCRIB_ENST00000377533.3_Missense_Mutation_p.S1144C	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1225	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCGATGGAAGAGATGCTCTC	0.677																																					Pancreas(51;966 1133 10533 14576 29674)												0													36	35	35					8																	144877630		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3674C>G	8.37:g.144877630G>C	ENSP00000322938:p.Ser1225Cys		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.S1225C	ENST00000320476.3	37	c.3674	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939334	0.73557	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.48836	1.08;1.02;0.8	4.67	4.67	0.58626	.	.	.	.	.	T	0.65637	0.2710	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.69680	-0.5080	9	0.87932	D	0	.	14.7366	0.69419	0.0:0.0:1.0:0.0	.	1225;1225	Q14160;Q14160-3	SCRIB_HUMAN;.	C	1225;1225;1144;594	ENSP00000349486:S1225C;ENSP00000322938:S1225C;ENSP00000366756:S1144C	ENSP00000322938:S1225C	S	-	2	0	SCRIB	144949618	1.000000	0.71417	0.577000	0.28562	0.603000	0.37013	5.679000	0.68160	2.139000	0.66308	0.555000	0.69702	TCT	SCRIB	-	NULL		0.677	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144877630	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144877630	G	C	144877630	3	2	51	1	0	0	0	0	1	0	0	0	13967	942	33	1	1345	1	SCRIB	8	144877630	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	49713352	144877630	1486392	24	6917										
DENND4C	55667	genome.wustl.edu	37	chr9	19369939	19369939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acaataatgttcttaaacccAtcaacctactttcacagcaa	2	12	3	0	rs542086159		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:19369939A>G	ENST00000380432.2	+	26	4807	c.4774A>G	c.(4774-4776)Atc>Gtc	p.I1592V	DENND4C_ENST00000602925.1_Missense_Mutation_p.I1828V|DENND4C_ENST00000434457.2_Missense_Mutation_p.I1877V|RP11-513M16.7_ENST00000609609.1_RNA			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1592					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTAAACCCATCAACCTACT	0.368													A|||	1	0.000199681	0	0	5008	,	,		13082	0		0	False		,,,				2504	0.001																0													95	86	89					9																	19369939		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4774A>G	9.37:g.19369939A>G	ENSP00000369797:p.Ile1592Val		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.I1592V	ENST00000380432.2	37	c.4774		9	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754027	0.49362	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.25250	1.82;1.81	5.07	5.07	0.68467	.	0.106585	0.64402	D	0.000007	T	0.26048	0.0635	L	0.39514	1.22	0.49687	D	0.999816	B;B;B	0.26400	0.057;0.115;0.148	B;B;B	0.34590	0.142;0.186;0.089	T	0.05194	-1.0900	9	.	.	.	-0.1727	14.9862	0.71351	1.0:0.0:0.0:0.0	.	922;774;1592	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	V	1592;1065;774;922;1065;774;589	ENSP00000305795:I1065V;ENSP00000443804:I922V	.	I	+	1	0	DENND4C	19359939	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	7.798000	0.85924	2.132000	0.65825	0.528000	0.53228	ATC	DENND4C	-	NULL		0.368	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		A	NM_017925		19369939	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19369939	A	G	19369939	3	3	51	1	0	0	0	0	1	0	0	0	4445	217	8	5	4876	5	DENND4C	9	19369939	Missense_Mutation	SNP	A	TCGA-C5-A7X3-01A-11D-A351-09		19369939	121843492	25	6918										
UCK1	83549	genome.wustl.edu	37	chr9	134404408	134404408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ctgctccaggtccctccctcGgcgcacgtcccggagaactg	11	18	0	1	rs576279404		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:134404408G>A	ENST00000372215.4	-	5	619	c.526C>T	c.(526-528)Cga>Tga	p.R176*	UCK1_ENST00000372210.3_Nonsense_Mutation_p.R167*|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372211.3_Nonsense_Mutation_p.R181*|UCK1_ENST00000459858.1_5'UTR	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	176					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		TCCCTCCCTCGGCGCACGTCC	0.682													G|||	1	0.000199681	8e-04	0	5008	,	,		16086	0		0	False		,,,				2504	0				Melanoma(42;523 1129 28385 43975 48113)												0													71	52	58					9																	134404408		2203	4300	6503	SO:0001587	stop_gained	83549			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.526C>T	9.37:g.134404408G>A	ENSP00000361289:p.Arg176*		Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Nonsense_Mutation	SNP	pfam_PRK/URK,prints_Uridine_kinase	p.R181*	ENST00000372215.4	37	c.541	CCDS6944.1	9	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701546	0.68501	.	.	ENSG00000130717	ENST00000372215;ENST00000372211;ENST00000372210	.	.	.	4.72	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7327	9.4384	0.38653	0.1803:0.0:0.8197:0.0	.	.	.	.	X	176;181;167	.	ENSP00000361284:R167X	R	-	1	2	UCK1	133394229	1.000000	0.71417	0.006000	0.13384	0.321000	0.28281	4.807000	0.62576	0.380000	0.24823	-0.140000	0.14226	CGA	UCK1	-	pfam_PRK/URK,prints_Uridine_kinase		0.682	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK1	HGNC	protein_coding	OTTHUMT00000054726.1	G	NM_031432		134404408	-1	no_errors	ENST00000372211	ensembl	human	known	70_37	nonsense	SNP	0.507	A	A	134404408	G	A	134404408	4	1	51	1	0	0	0	0	0	1	0	0	16954	1124	39	2	319	2	UCK1	9	134404408	Nonsense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	115034469	134404408	6809023	26	6919										
NOTCH1	4851	genome.wustl.edu	37	chr9	139412345	139412345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acactggcactcgaaggagcCcagcgtgttgatgcacttgc	12	12	0	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:139412345C>A	ENST00000277541.6	-	8	1375	c.1300G>T	c.(1300-1302)Ggc>Tgc	p.G434C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	434	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGAAGGAGCCCAGCGTGTTG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													45	50	48					9																	139412345		2193	4285	6478	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1300G>T	9.37:g.139412345C>A	ENSP00000277541:p.Gly434Cys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.G434C	ENST00000277541.6	37	c.1300	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328489	0.81690	.	.	ENSG00000148400	ENST00000277541	D	0.99557	-6.16	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96375	0.9277	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	434	P46531	NOTC1_HUMAN	C	434	ENSP00000277541:G434C	ENSP00000277541:G434C	G	-	1	0	NOTCH1	138532166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.584000	0.82572	2.088000	0.63022	0.462000	0.41574	GGC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139412345	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139412345	C	A	139412345	3	1	51	1	0	0	0	0	1	0	0	0	10571	623	22	4	6475	4	NOTCH1	9	139412345	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	5007937	139412345	1801086	27	6920										
MYST4	23522	genome.wustl.edu	37	chr10	76790423	76790423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tcacaaatctatgggcgctcCcagactgtagccatgcaggg	11	12	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr10:76790423C>T	ENST00000287239.4	+	18	6330	c.5841C>T	c.(5839-5841)tcC>tcT	p.S1947S	KAT6B_ENST00000372711.1_Silent_p.S1764S|KAT6B_ENST00000372725.1_Silent_p.S1655S|KAT6B_ENST00000372724.1_Silent_p.S1655S|KAT6B_ENST00000372714.1_Silent_p.S1655S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1947	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGGGCGCTCCCAGACTGTAG	0.542																																																	0													91	91	91					10																	76790423		2203	4300	6503	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5841C>T	10.37:g.76790423C>T			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S1947	ENST00000287239.4	37	c.5841	CCDS7345.1	10																																																																																			KAT6B	-	NULL		0.542	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	C	NM_012330		76790423	1	no_errors	ENST00000287239	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76790423	C	T	76790423	2	4	51	1	0	0	0	0	0	0	0	1	10128	610	22	4		4	MYST4	10	76790423	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		76790423	58744324	28	6921										
TCF7L2	6934	genome.wustl.edu	37	chr10	114799868	114799869	+	In_Frame_Ins	INS	-	-	CAC													0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	caaggatgcccggtccccatINScaccggcacacattgtcgta							TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr10:114799868_114799869insCAC	ENST00000355995.4	+	5	1042_1043	c.535_536insCAC	c.(535-537)tca>tCACca	p.180_181insP	TCF7L2_ENST00000355717.4_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000534894.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000369395.1_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000536810.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000545257.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000369397.4_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000538897.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000352065.5_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000349937.2_In_Frame_Ins_p.180_181insP			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	180	Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCGGTCCCCATCACCGGCACAC	0.49			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0																																										SO:0001652	inframe_insertion	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.536_538dupCAC	10.37:g.114799869_114799871dupCAC	ENSP00000348274:p.Pro180_Pro180dup		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	In_Frame_Ins	INS	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.181in_frame_insP	ENST00000355995.4	37	c.535_536		10																																																																																			TCF7L2	-	pfam_CTNNB1-bd_N		0.49	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		-	NM_030756		114799869	1	no_errors	ENST00000355995	ensembl	human	known	70_37	in_frame_ins	INS	0.998:0.999	CAC	CAC	114799869	-	CAC	114799868	7	5	51	1	0	1	1	0	0	0	0	0	15728	1435	50	0	553	0	TCF7L2	10	114799868	In_Frame_Ins	INS	-	TCGA-C5-A7X3-01A-11D-A351-09	38009445	114799868	20734879	29	6922										
MUC5B	727897	genome.wustl.edu	37	chr11	1255050	1255050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acgggtgggaagctaagctgCctgggagcctctctgcagaa	15	10	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:1255050C>T	ENST00000529681.1	+	19	2407	c.2349C>T	c.(2347-2349)tgC>tgT	p.C783C	MUC5B_ENST00000447027.1_Silent_p.C786C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	783					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTAAGCTGCCTGGGAGCCT	0.682																																																	0													35	45	41					11																	1255050		2041	4175	6216	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2349C>T	11.37:g.1255050C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.C786	ENST00000529681.1	37	c.2358	CCDS44515.2	11																																																																																			MUC5B	-	smart_VWF_C		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1255050	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1255050	C	T	1255050	2	4	51	1	0	0	0	0	0	0	0	1	10002	747	26	4		4	MUC5B	11	1255050	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		1255050	133751466	30	6923										
OR52H1	390067	genome.wustl.edu	37	chr11	5566215	5566215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	agtatgtgtggggtatgatgCgtgtcctgcagaaaggcagg	17	5	0	2	rs369335190		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:5566215C>T	ENST00000322653.4	-	1	564	c.539G>A	c.(538-540)cGc>cAc	p.R180H	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTATGATGCGTGTCCTGCA	0.488																																																	0								T	HIS/ARG	0,4402		0,0,2201	116	95	102		539	-0.7	0.5	11		102	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR52H1	NM_001005289.1	29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	180/321	5566215	1,12995	2201	4297	6498	SO:0001583	missense	390067			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.539G>A	11.37:g.5566215C>T	ENSP00000326259:p.Arg180His		B9EH26|Q6IF79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R180H	ENST00000322653.4	37	c.539	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.650553	0.00785	0.0	1.16E-4	ENSG00000181616	ENST00000322653	T	0.00107	8.72	5.37	-0.696	0.11287	GPCR, rhodopsin-like superfamily (1);	0.874050	0.10095	N	0.716748	T	0.00073	0.0002	N	0.04162	-0.26	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.01149	-1.1436	10	0.09084	T	0.74	.	10.7651	0.46288	0.0:0.4592:0.0:0.5408	.	180	Q8NGJ2	O52H1_HUMAN	H	180	ENSP00000326259:R180H	ENSP00000326259:R180H	R	-	2	0	OR52H1	5522791	0.000000	0.05858	0.472000	0.27241	0.065000	0.16274	-1.590000	0.02102	-0.292000	0.08999	-0.745000	0.03516	CGC	OR52H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	C	NM_001005289		5566215	-1	no_errors	ENST00000322653	ensembl	human	known	70_37	missense	SNP	0.000	T	T	5566215	C	T	5566215	3	4	51	1	0	0	0	0	1	0	0	0	11143	768	27	2	426	2	OR52H1	11	5566215	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	4311165	5566215	129440301	31	6924										
DDB1	1642	genome.wustl.edu	37	chr11	61070628	61070628	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ggattaaagtctcgagcaatCttaaaacagacaaggtgaaa	9	6	2	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:61070628C>T	ENST00000301764.7	-	23	3230		c.e23-1		DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCGAGCAATCTTAAAACAGA	0.438								Nucleotide excision repair (NER)																																									0													106	99	101					11																	61070628		2203	4299	6502	SO:0001630	splice_region_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2833-1G>A	11.37:g.61070628C>T			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	SNP	-	e23-1	ENST00000301764.7	37	c.2833-1	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184273	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6942	0.91594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDB1	60827204	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.802000	0.85969	2.426000	0.82243	0.491000	0.48974	.	DDB1	-	-		0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	C	NM_001923	Intron	61070628	-1	no_errors	ENST00000301764	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	61070628	C	T	61070628	5	4	51	1	0	0	0	0	0	0	1	0	4328	927	32	1	610	1	DDB1	11	61070628	Splice_Site	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	55504413	61070628	73935888	32	6925										
C11orf9	745	genome.wustl.edu	37	chr11	61546883	61546883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cctcaagtccaccggcagctCgggcgccttcaggtaggggt	14	14	2	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:61546883C>T	ENST00000278836.5	+	15	2258	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S712L|MYRF_ENST00000389602.4_Missense_Mutation_p.S112L|MYRF_ENST00000327797.1_Missense_Mutation_p.S365L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	721					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACCGGCAGCTCGGGCGCCTTC	0.662																																																	0													13	14	14					11																	61546883		1995	3905	5900	SO:0001583	missense	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2162C>T	11.37:g.61546883C>T	ENSP00000278836:p.Ser721Leu		O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.S721L	ENST00000278836.5	37	c.2162	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813705	0.70912	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797;ENST00000389602	T;T;T;T	0.46819	1.36;1.39;0.86;1.33	4.52	4.52	0.55395	.	0.604027	0.17240	N	0.181599	T	0.45478	0.1344	M	0.61703	1.905	0.47778	D	0.999518	B;B;B	0.34313	0.448;0.301;0.2	B;B;B	0.27380	0.058;0.079;0.03	T	0.52593	-0.8555	10	0.54805	T	0.06	-10.019	16.0024	0.80306	0.0:1.0:0.0:0.0	.	112;712;721	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	L	721;712;365;112	ENSP00000278836:S721L;ENSP00000265460:S712L;ENSP00000333261:S365L;ENSP00000374253:S112L	ENSP00000265460:S712L	S	+	2	0	C11orf9	61303459	0.985000	0.35326	0.940000	0.37924	0.950000	0.60333	2.379000	0.44318	2.517000	0.84864	0.655000	0.94253	TCG	C11orf9	-	NULL		0.662	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	C	NM_013279		61546883	1	no_errors	ENST00000278836	ensembl	human	known	70_37	missense	SNP	0.996	T	T	61546883	C	T	61546883	3	4	51	1	0	0	0	0	1	0	0	0	1675	893	31	1	2243	1	C11orf9	11	61546883	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	476255	61546883	73459633	33	6926										
BRMS1	25855	genome.wustl.edu	37	chr11	66105270	66105270	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gaccctgaggggcctgtgggTccgcctgtctgcaggaggaa	17	11	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:66105270T>C	ENST00000359957.3	-	0	984				RIN1_ENST00000424433.2_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000311320.4_5'Flank|BRMS1_ENST00000425825.2_Missense_Mutation_p.T248A|RIN1_ENST00000530056.1_5'Flank	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1						apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GGCCTGTGGGTCCGCCTGTCT	0.652																																					GBM(7;55 307 2662 20856 28942)												0													45	50	49					11																	66105270		2200	4295	6495	SO:0001624	3_prime_UTR_variant	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.*83A>G	11.37:g.66105270T>C			Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.T248A	ENST00000359957.3	37	c.742	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.272|2.272	-0.366785|-0.366785	0.05069|0.05069	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825	.|.	.|.	.|.	2.24|2.24	1.08|1.08	0.20341|0.20341	.|.	.|.	.|.	.|.	.|.	T|T	0.18257|0.18257	0.0438|0.0438	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999993|0.999993	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.30446|0.30446	-0.9978|-0.9978	5|8	.|0.10111	.|T	.|0.7	.|.	4.0405|4.0405	0.09750|0.09750	0.0:0.1809:0.0:0.8191|0.0:0.1809:0.0:0.8191	.|.	.|248	.|G5E9I4	.|.	G|A	224|248	.|.	.|ENSP00000396052:T248A	D|T	-|-	2|1	0|0	BRMS1|BRMS1	65861846|65861846	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.004000|0.004000	0.04260|0.04260	-0.445000|-0.445000	0.06845|0.06845	0.310000|0.310000	0.22990|0.22990	0.374000|0.374000	0.22700|0.22700	GAC|ACC	BRMS1	-	NULL		0.652	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	T	NM_015399		66105270	-1	no_errors	ENST00000425825	ensembl	human	known	70_37	missense	SNP	0.004	C	C	66105270	T	C	66105270	1	2	51	0	1	0	0	0	0	0	0	0	1519	1667	58	5		5	BRMS1	11	66105270	3'UTR	SNP	T	TCGA-C5-A7X3-01A-11D-A351-09	4558387	66105270	68901246	34	6927										
HYOU1	10525	genome.wustl.edu	37	chr11	118922845	118922845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ctcctgaactctggggacccGagtggccccacccaccagga	11	17	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:118922845G>A	ENST00000404233.3	-	11	1286	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	HYOU1_ENST00000543287.1_Missense_Mutation_p.R301W|HYOU1_ENST00000525859.1_Missense_Mutation_p.R388W|HYOU1_ENST00000529972.1_Missense_Mutation_p.R388W	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	388					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGGGGACCCGAGTGGCCCCA	0.602																																																	0													81	81	81					11																	118922845		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1162C>T	11.37:g.118922845G>A	ENSP00000384144:p.Arg388Trp		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R388W	ENST00000404233.3	37	c.1162	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847274	0.91277	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	5.26	5.26	0.73747	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.57642	-0.7776	10	0.87932	D	0	-22.5266	19.0611	0.93093	0.0:0.0:1.0:0.0	.	379;432;388;388	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	W	388;379;388;388;237;388;431;301;388	ENSP00000384144:R388W;ENSP00000437313:R388W;ENSP00000433397:R388W;ENSP00000442727:R301W;ENSP00000431874:R388W	ENSP00000278752:R379W	R	-	1	2	HYOU1	118428055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.924000	0.70054	2.735000	0.93741	0.655000	0.94253	CGG	HYOU1	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.602	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	G	NM_006389		118922845	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118922845	G	A	118922845	3	1	51	1	0	0	0	0	1	0	0	0	7490	1057	37	1	1901	1	HYOU1	11	118922845	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	52817575	118922845	16083671	35	6928										
ITGA5	3678	genome.wustl.edu	37	chr12	54797013	54797013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ctctgataatgtagggctggCctgaggccgtggctgtccac	14	11	1	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr12:54797013C>A	ENST00000293379.4	-	18	2133	c.1872G>T	c.(1870-1872)agG>agT	p.R624S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	624					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTAGGGCTGGCCTGAGGCCGT	0.587																																																	0													143	154	150					12																	54797013		2203	4300	6503	SO:0001583	missense	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1872G>T	12.37:g.54797013C>A	ENSP00000293379:p.Arg624Ser		Q96HA5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R624S	ENST00000293379.4	37	c.1872	CCDS8880.1	12	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189402	0.38707	.	.	ENSG00000161638	ENST00000293379	T	0.44083	0.93	5.16	-0.342	0.12635	Integrin alpha-2 (1);	0.620936	0.16632	N	0.206007	T	0.32793	0.0841	L	0.55481	1.735	0.39893	D	0.973794	B	0.33171	0.4	B	0.36504	0.226	T	0.15178	-1.0446	10	0.51188	T	0.08	.	2.6904	0.05119	0.1275:0.5113:0.1248:0.2365	.	624	P08648	ITA5_HUMAN	S	624	ENSP00000293379:R624S	ENSP00000293379:R624S	R	-	3	2	ITGA5	53083280	0.536000	0.26378	0.301000	0.25044	0.584000	0.36387	0.106000	0.15354	0.015000	0.14971	0.484000	0.47621	AGG	ITGA5	-	pfam_Integrin_alpha-2		0.587	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	C			54797013	-1	no_errors	ENST00000293379	ensembl	human	known	70_37	missense	SNP	0.730	A	A	54797013	C	A	54797013	3	1	51	1	0	0	0	0	1	0	0	0	7899	738	26	4	1329	4	ITGA5	12	54797013	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		54797013	79054882	36	6929										
BAZ2A	11176	genome.wustl.edu	37	chr12	57009107	57009107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gaactcttggctcccagcccGaaggttagtgttatgacttg	11	10	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr12:57009107G>A	ENST00000551812.1	-	3	620	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BAZ2A_ENST00000179765.5_Missense_Mutation_p.R141W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R141W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R143W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	143					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCCCAGCCCGAAGGTTAGTG	0.542																																																	0													71	70	71					12																	57009107		1904	4113	6017	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.427C>T	12.37:g.57009107G>A	ENSP00000446880:p.Arg143Trp		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R143W	ENST00000551812.1	37	c.427	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488219	0.64074	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	4.75	4.75	0.60458	.	0.427051	0.22396	N	0.060613	T	0.22126	0.0533	N	0.14661	0.345	0.31489	N	0.666223	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.67548	0.929;0.952;0.897	T	0.04900	-1.0919	10	0.87932	D	0	.	10.6739	0.45774	0.0:0.0:0.8093:0.1907	.	143;141;143	B7Z8F7;F8VU39;Q9UIF9	.;.;BAZ2A_HUMAN	W	143;141;143;141	ENSP00000368754:R143W;ENSP00000179765:R141W;ENSP00000446880:R143W;ENSP00000447941:R141W	ENSP00000179765:R141W	R	-	1	2	BAZ2A	55295374	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.380000	0.34351	2.631000	0.89168	0.655000	0.94253	CGG	BAZ2A	-	NULL		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	G	NM_013449		57009107	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57009107	G	A	57009107	3	1	51	1	0	0	0	0	1	0	0	0	1332	1057	37	1	5398	1	BAZ2A	12	57009107	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	2212094	57009107	76842788	37	6930										
LRCH1	23143	genome.wustl.edu	37	chr13	47315857	47315857	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gttgacactctgctggcactCggggagaaagccccaccacc	11	15	1	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr13:47315857C>T	ENST00000389798.3	+	19	2258	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	LRCH1_ENST00000311191.6_Intron|LRCH1_ENST00000389797.3_Silent_p.L722L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	687	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTGGCACTCGGGGAGAAAG	0.512																																																	0													315	322	320					13																	47315857		2203	4300	6503	SO:0001819	synonymous_variant	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2061C>T	13.37:g.47315857C>T			B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L687	ENST00000389798.3	37	c.2061	CCDS31972.1	13																																																																																			LRCH1	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.512	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	C	NM_015116		47315857	1	no_errors	ENST00000389798	ensembl	human	known	70_37	silent	SNP	0.969	T	T	47315857	C	T	47315857	2	4	51	1	0	0	0	0	0	0	0	1	8955	871	31	1		1	LRCH1	13	47315857	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		47315857	67854021	38	6931										
MDP1	145553	genome.wustl.edu	37	chr14	24683549	24683549	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gtctacaatattccgcctctCatcatcaaagaagatcatct	4	12	6	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr14:24683549C>G	ENST00000288087.7	-	5	481	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000396833.2_Intron|TM9SF1_ENST00000556387.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|MDP1_ENST00000532557.1_Intron|CHMP4A_ENST00000347519.6_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.E141Q|CHMP4A_ENST00000530996.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	124						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TTCCGCCTCTCATCATCAAAG	0.468																																																	0													141	135	137					14																	24683549		2203	4300	6503	SO:0001583	missense	145553			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.370G>C	14.37:g.24683549C>G	ENSP00000288087:p.Glu124Gln		Q86Y84|Q8NAD9	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	p.E124Q	ENST00000288087.7	37	c.370	CCDS9620.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458438	0.84317	.	.	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97328	-4.34;-4.34	5.0	5.0	0.66597	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.30383	U	0.009754	D	0.97676	0.9238	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96607	0.9449	10	0.31617	T	0.26	-17.2219	13.6713	0.62427	0.0:1.0:0.0:0.0	.	124	Q86V88	MGDP1_HUMAN	Q	124;141	ENSP00000288087:E124Q;ENSP00000431482:E141Q	ENSP00000288087:E124Q	E	-	1	0	MDP1;NEDD8-MDP1	23753389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.092000	0.57707	2.607000	0.88179	0.655000	0.94253	GAG	MDP1	-	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC		0.468	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MDP1	HGNC	protein_coding	OTTHUMT00000257367.1	C	NM_138476		24683549	-1	no_errors	ENST00000288087	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24683549	C	G	24683549	3	3	51	1	0	0	0	0	1	0	0	0	9439	835	29	1	168	1	MDP1	14	24683549	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		24683549	82665991	39	6932										
C15orf55	256646	genome.wustl.edu	37	chr15	34640436	34640436	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tcattgtcaaagtcaagacaGaaggggggtcagctgagccc	13	9	4	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr15:34640436G>C	ENST00000333756.4	+	2	438	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	NUTM1_ENST00000438749.3_Missense_Mutation_p.E113Q|NUTM1_ENST00000537011.1_Missense_Mutation_p.E123Q	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	95	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGTCAAGACAGAAGGGGGGTC	0.587																																																	0													65	63	64					15																	34640436		2201	4298	6499	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.283G>C	15.37:g.34640436G>C	ENSP00000329448:p.Glu95Gln		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.E95Q	ENST00000333756.4	37	c.283	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631157	0.67015	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.25250	1.81;1.81;1.81	5.69	5.69	0.88448	Nuclear Testis  protein, N-terminal (1);	0.212373	0.33199	N	0.005167	T	0.47801	0.1465	M	0.70275	2.135	0.26874	N	0.967682	D;D;D	0.64830	0.994;0.992;0.994	P;P;P	0.62740	0.906;0.848;0.906	T	0.41680	-0.9495	10	0.45353	T	0.12	.	15.3253	0.74157	0.0:0.0:1.0:0.0	.	113;123;95	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Q	123;113;95;95	ENSP00000444896:E123Q;ENSP00000407031:E113Q;ENSP00000329448:E95Q	ENSP00000329448:E95Q	E	+	1	0	C15orf55	32427728	1.000000	0.71417	0.867000	0.34043	0.534000	0.34807	3.324000	0.52022	2.692000	0.91855	0.655000	0.94253	GAA	C15orf55	-	NULL		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf55	HGNC	protein_coding	OTTHUMT00000418026.1	G	NM_175741		34640436	1	no_errors	ENST00000333756	ensembl	human	known	70_37	missense	SNP	0.928	C	C	34640436	G	C	34640436	3	2	51	1	0	0	0	0	1	0	0	0	1807	943	33	1	289	1	C15orf55	15	34640436	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		34640436	67890956	40	6933										
DUOX2	50506	genome.wustl.edu	37	chr15	45398750	45398750	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cactccatctttggctgcttCcttcttcacgctctctttga	5	15	4	1	rs139161034	byFrequency	TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr15:45398750C>A	ENST00000603300.1	-	16	2123	c.1921G>T	c.(1921-1923)Gaa>Taa	p.E641*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.E641*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	641					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGGCTGCTTCCTTCTTCACG	0.552																																																	0													206	195	199					15																	45398750		2198	4298	6496	SO:0001587	stop_gained	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1921G>T	15.37:g.45398750C>A	ENSP00000475084:p.Glu641*		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.E641*	ENST00000603300.1	37	c.1921	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.486998	0.98832	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.19	2.21	0.28008	.	0.657418	0.16300	N	0.220481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-2.5588	6.4263	0.21772	0.0:0.682:0.1546:0.1634	.	.	.	.	X	641	.	ENSP00000373691:E641X	E	-	1	0	DUOX2	43186042	0.840000	0.29493	0.000000	0.03702	0.217000	0.24651	0.384000	0.20668	0.262000	0.21774	0.557000	0.71058	GAA	DUOX2	-	NULL		0.552	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		C	NM_014080		45398750	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	nonsense	SNP	0.098	A	A	45398750	C	A	45398750	4	1	51	1	0	0	0	0	0	1	0	0	4811	864	30	3	2801	3	DUOX2	15	45398750	Nonsense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	10758314	45398750	57132642	41	6934										
PKD1	5310	genome.wustl.edu	37	chr16	2152434	2152434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cgaagaggctggcgccgaagGcggtgaggtggcgggtgagg	23	7	0	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr16:2152434G>T	ENST00000262304.4	-	25	9357	c.9149C>A	c.(9148-9150)gCc>gAc	p.A3050D	PKD1_ENST00000423118.1_Missense_Mutation_p.A3050D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3050	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCGCCGAAGGCGGTGAGGTG	0.672																																																	0													5	7	6					16																	2152434		2021	4077	6098	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9149C>A	16.37:g.2152434G>T	ENSP00000262304:p.Ala3050Asp		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A3050D	ENST00000262304.4	37	c.9149	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751229	0.89753	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.68765	-0.35;-0.35	4.38	4.38	0.52667	GPS domain (3);	0.177665	0.48767	D	0.000175	T	0.80396	0.4615	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.79831	-0.1637	10	0.35671	T	0.21	.	17.1166	0.86690	0.0:0.0:1.0:0.0	.	3050;3050	P98161-3;P98161	.;PKD1_HUMAN	D	3050;3050;2385	ENSP00000262304:A3050D;ENSP00000399501:A3050D	ENSP00000262304:A3050D	A	-	2	0	PKD1	2092435	1.000000	0.71417	0.978000	0.43139	0.790000	0.44656	7.440000	0.80464	2.253000	0.74438	0.455000	0.32223	GCC	PKD1	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2152434	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2152434	G	T	2152434	3	4	51	1	0	0	0	0	1	0	0	0	11987	1203	42	4	3850	4	PKD1	16	2152434	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		2152434	88202319	42	6935										
ATXN2L	11273	genome.wustl.edu	37	chr16	28843711	28843711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ctccaaagatctccctggccCccacagatggtaagagctag	9	14	1	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr16:28843711C>T	ENST00000336783.4	+	11	1674	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	ATXN2L_ENST00000570200.1_Missense_Mutation_p.P503S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P509S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P503S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P503S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P503S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P503S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	503					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCCTGGCCCCCACAGATGG	0.498																																																	0													81	88	86					16																	28843711		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1507C>T	16.37:g.28843711C>T	ENSP00000338718:p.Pro503Ser		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P503S	ENST00000336783.4	37	c.1507	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	11.82	1.753762	0.31046	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.44881	0.92;0.92;0.91;0.91;0.91	5.46	4.5	0.54988	.	0.158098	0.43579	D	0.000548	T	0.23014	0.0556	N	0.12182	0.205	0.51233	D	0.999912	B;B;B;B;B;B;B;B	0.14012	0.001;0.009;0.001;0.003;0.001;0.001;0.001;0.005	B;B;B;B;B;B;B;B	0.12156	0.003;0.007;0.001;0.002;0.003;0.003;0.001;0.005	T	0.07712	-1.0758	10	0.18276	T	0.48	-11.8559	10.7944	0.46451	0.0:0.8504:0.0:0.1496	.	503;503;503;503;503;503;503;503	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	503	ENSP00000341459:P503S;ENSP00000378917:P503S;ENSP00000338718:P503S;ENSP00000372133:P503S;ENSP00000315650:P503S	ENSP00000315650:P503S	P	+	1	0	ATXN2L	28751212	0.709000	0.27886	1.000000	0.80357	0.984000	0.73092	0.891000	0.28309	2.567000	0.86603	0.491000	0.48974	CCC	ATXN2L	-	NULL		0.498	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	C	NM_007245		28843711	1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	0.903	T	T	28843711	C	T	28843711	3	4	51	1	0	0	0	0	1	0	0	0	1213	623	22	4	1549	4	ATXN2L	16	28843711	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	26691277	28843711	61511042	43	6936										
IL17C	27189	genome.wustl.edu	37	chr16	88705500	88705500	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ccccacactgctactcggctGaggaactgcccctcggccag	10	18	0	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr16:88705500G>A	ENST00000244241.4	+	2	167	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	40					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTACTCGGCTGAGGAACTGCC	0.677																																																	0													58	67	64					16																	88705500		1991	4151	6142	SO:0001583	missense	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.118G>A	16.37:g.88705500G>A	ENSP00000244241:p.Glu40Lys		Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.E40K	ENST00000244241.4	37	c.118	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964522	0.53507	.	.	ENSG00000124391	ENST00000244241	T	0.49720	0.77	5.04	4.06	0.47325	.	0.290888	0.28354	N	0.015641	T	0.45013	0.1321	L	0.34521	1.04	0.27107	N	0.962466	P	0.51791	0.948	P	0.48738	0.588	T	0.38845	-0.9642	10	0.56958	D	0.05	-12.3697	13.2055	0.59793	0.0:0.1604:0.8396:0.0	.	40	Q9P0M4	IL17C_HUMAN	K	40	ENSP00000244241:E40K	ENSP00000244241:E40K	E	+	1	0	IL17C	87233001	0.962000	0.33011	0.039000	0.18376	0.082000	0.17680	2.462000	0.45049	1.074000	0.40909	0.555000	0.69702	GAG	IL17C	-	pfam_Interleukin-17		0.677	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	G	NM_013278		88705500	1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	0.777	A	A	88705500	G	A	88705500	3	1	51	1	0	0	0	0	1	0	0	0	7656	1291	45	1	124	1	IL17C	16	88705500	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	59861789	88705500	1649253	44	6937										
KCNH4	23415	genome.wustl.edu	37	chr17	40330492	40330492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ccaggaggcaccaaaaggctGagcctgtaggcatggagaga	15	9	0	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:40330492G>A	ENST00000264661.3	-	3	646	c.314C>T	c.(313-315)tCa>tTa	p.S105L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S105L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	105	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAAAAGGCTGAGCCTGTAGG	0.532																																					NSCLC(117;707 1703 2300 21308 31858)												0													43	36	38					17																	40330492		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.314C>T	17.37:g.40330492G>A	ENSP00000264661:p.Ser105Leu			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S105L	ENST00000264661.3	37	c.314	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253875	0.39896	.	.	ENSG00000089558	ENST00000264661	D	0.99680	-6.38	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.34067	N	0.004299	D	0.99162	0.9710	M	0.77616	2.38	0.41796	D	0.989899	B	0.28026	0.198	B	0.33799	0.17	D	0.99945	1.1462	10	0.34782	T	0.22	.	13.8362	0.63410	0.0757:0.0:0.9243:0.0	.	105	Q9UQ05	KCNH4_HUMAN	L	105	ENSP00000264661:S105L	ENSP00000264661:S105L	S	-	2	0	KCNH4	37584018	0.992000	0.36948	0.954000	0.39281	0.808000	0.45660	2.149000	0.42244	2.584000	0.87258	0.563000	0.77884	TCA	KCNH4	-	pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,smart_PAC,prints_K_chnl_volt-dep_ELK,pfscan_PAS-assoc_C,tigrfam_PAS		0.532	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40330492	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	0.846	A	A	40330492	G	A	40330492	3	1	51	1	0	0	0	0	1	0	0	0	8054	1294	45	1	2795	1	KCNH4	17	40330492	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		40330492	40864718	45	6938										
CD300C	10871	genome.wustl.edu	37	chr17	72540766	72540766	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acccgggaacacggacacctCaacctcgacaatgggatcat	9	14	2	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:72540766C>G	ENST00000330793.1	-	2	742	c.382G>C	c.(382-384)Gag>Cag	p.E128Q		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	128	Ig-like V-type.|Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGACACCTCAACCTCGACA	0.577																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													135	119	124					17																	72540766		2203	4300	6503	SO:0001583	missense	10871			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.382G>C	17.37:g.72540766C>G	ENSP00000329507:p.Glu128Gln			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E128Q	ENST00000330793.1	37	c.382	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	C	8.624	0.892098	0.17613	.	.	ENSG00000167850	ENST00000330793	T	0.04156	3.69	4.33	-3.0	0.05480	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.727610	0.03315	N	0.191014	T	0.04679	0.0127	N	0.20574	0.59	0.09310	N	1	P	0.34462	0.454	B	0.40199	0.322	T	0.42982	-0.9419	10	0.19590	T	0.45	.	9.0946	0.36632	0.0:0.3289:0.0:0.6711	.	128	Q08708	CLM6_HUMAN	Q	128	ENSP00000329507:E128Q	ENSP00000329507:E128Q	E	-	1	0	CD300C	70052361	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.569000	0.02142	-0.375000	0.07955	-0.378000	0.06908	GAG	CD300C	-	smart_Ig_sub,pfscan_Ig-like		0.577	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	C	NM_006678		72540766	-1	no_errors	ENST00000330793	ensembl	human	known	70_37	missense	SNP	0.000	G	G	72540766	C	G	72540766	3	3	51	1	0	0	0	0	1	0	0	0	3002	835	29	1	304	1	CD300C	17	72540766	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	32210274	72540766	8654444	46	6939										
RNF213	57674	genome.wustl.edu	37	chr17	78262101	78262101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	gcctgagtcaaaaggaggcaGctctgagcccgggacagaac	14	11	2	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:78262101G>T	ENST00000582970.1	+	4	892	c.749G>T	c.(748-750)aGc>aTc	p.S250I	RNF213_ENST00000456466.1_Missense_Mutation_p.S250I|RNF213_ENST00000508628.2_Missense_Mutation_p.S299I|RNF213_ENST00000319921.4_Missense_Mutation_p.S250I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	250					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAAGGAGGCAGCTCTGAGCCC	0.622																																																	0													41	45	44					17																	78262101		2203	4298	6501	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.749G>T	17.37:g.78262101G>T	ENSP00000464087:p.Ser250Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S250I	ENST00000582970.1	37	c.749	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349501	0.11182	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.44083	0.93;0.93	3.83	-7.66	0.01277	.	3.160450	0.01219	N	0.008059	T	0.26810	0.0656	L	0.29908	0.895	0.09310	N	1	P	0.49090	0.919	B	0.37601	0.254	T	0.50898	-0.8773	10	0.56958	D	0.05	0.79	8.6086	0.33789	0.1463:0.3566:0.4971:0.0	.	250	Q9HCF4-2	.	I	250;299;250;250	ENSP00000392123:S250I;ENSP00000324392:S250I	ENSP00000324392:S250I	S	+	2	0	RNF213	75876696	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.940000	0.01543	-2.403000	0.00577	0.561000	0.74099	AGC	RNF213	-	NULL		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78262101	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.000	T	T	78262101	G	T	78262101	3	4	51	1	0	0	0	0	1	0	0	0	13507	971	34	4	910	4	RNF213	17	78262101	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	5721335	78262101	2933109	47	6940										
RNF213	57674	genome.wustl.edu	37	chr17	78317800	78317800	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aggacgtcagtgccgtcgagGagctcttcagcgctggtctg	15	11	4	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:78317800G>A	ENST00000582970.1	+	28	6470	c.6327G>A	c.(6325-6327)agG>agA	p.R2109R	RNF213_ENST00000336301.6_Silent_p.R182R|RNF213_ENST00000508628.2_Silent_p.R2158R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2109					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCGTCGAGGAGCTCTTCAG	0.507																																																	0													71	67	69					17																	78317800		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6327G>A	17.37:g.78317800G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.R2109	ENST00000582970.1	37	c.6327	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78317800	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.001	A	A	78317800	G	A	78317800	2	1	51	1	0	0	0	0	0	0	0	1	13507	1165	41	1		1	RNF213	17	78317800	Silent	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	55699	78317800	2877410	48	6941										
FN3KRP	79672	genome.wustl.edu	37	chr17	80684800	80684800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aaacgtagcagaggattcctCtgggccggtgatttttgacc	12	9	1	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:80684800C>G	ENST00000269373.6	+	6	756	c.683C>G	c.(682-684)tCt>tGt	p.S228C	FN3KRP_ENST00000535965.1_Missense_Mutation_p.S178C|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	228							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GAGGATTCCTCTGGGCCGGTG	0.542																																																	0													67	70	69					17																	80684800		2203	4300	6503	SO:0001583	missense	79672			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.683C>G	17.37:g.80684800C>G	ENSP00000269373:p.Ser228Cys		Q969F4|Q9H0U7	Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.S228C	ENST00000269373.6	37	c.683	CCDS11817.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601564	0.46423	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.53423	0.62;0.62	5.82	4.79	0.61399	Protein kinase-like domain (1);	0.596342	0.19457	N	0.113797	T	0.65984	0.2744	M	0.77103	2.36	0.09310	N	1	D	0.53312	0.959	P	0.59115	0.852	T	0.60367	-0.7277	10	0.66056	D	0.02	-20.5003	15.3587	0.74453	0.1402:0.8597:0.0:0.0	.	228	Q9HA64	KT3K_HUMAN	C	228;178	ENSP00000269373:S228C;ENSP00000444994:S178C	ENSP00000269373:S228C	S	+	2	0	FN3KRP	78278089	0.603000	0.26924	0.230000	0.23976	0.354000	0.29330	2.036000	0.41165	2.761000	0.94854	0.655000	0.94253	TCT	FN3KRP	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase		0.542	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3KRP	HGNC	protein_coding	OTTHUMT00000439219.1	C	NM_024619		80684800	1	no_errors	ENST00000269373	ensembl	human	known	70_37	missense	SNP	0.011	G	G	80684800	C	G	80684800	3	3	51	1	0	0	0	0	1	0	0	0	5982	913	32	1	705	1	FN3KRP	17	80684800	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	2367000	80684800	510410	49	6942										
TCEB3B	51224	genome.wustl.edu	37	chr18	44559875	44559875	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ttgaagtcctggaaacaatgAttcctccgtaattcgtctgt	8	9	1	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr18:44559875A>T	ENST00000332567.4	-	1	2113	c.1761T>A	c.(1759-1761)aaT>aaA	p.N587K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	587	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAAACAATGATTCCTCCGTA	0.517																																																	0													61	60	60					18																	44559875		2203	4300	6503	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1761T>A	18.37:g.44559875A>T	ENSP00000331302:p.Asn587Lys		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.N587K	ENST00000332567.4	37	c.1761	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	A	8.020	0.759523	0.15846	.	.	ENSG00000206181	ENST00000332567	T	0.27720	1.65	1.28	-0.0444	0.13855	.	1.316200	0.05381	N	0.537143	T	0.10937	0.0267	N	0.02802	-0.49	0.20975	N	0.999812	B	0.10296	0.003	B	0.04013	0.001	T	0.25882	-1.0119	10	0.06099	T	0.92	1.1094	5.2856	0.15700	0.7048:0.2952:0.0:0.0	.	587	Q8IYF1	ELOA2_HUMAN	K	587	ENSP00000331302:N587K	ENSP00000331302:N587K	N	-	3	2	TCEB3B	42813873	0.030000	0.19436	0.002000	0.10522	0.006000	0.05464	-0.082000	0.11304	-0.018000	0.14079	0.421000	0.28195	AAT	TCEB3B	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.517	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	A	NM_016427		44559875	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	missense	SNP	0.678	T	T	44559875	A	T	44559875	3	4	51	1	0	0	0	0	1	0	0	0	15712	330	12	5	504	5	TCEB3B	18	44559875	Missense_Mutation	SNP	A	TCGA-C5-A7X3-01A-11D-A351-09		44559875	33517373	50	6943										
STK11	6794	genome.wustl.edu	37	chr19	1223012	1223012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	ggaagaaacatcctccggctGaagcaccagtgcccatccca	9	15	0	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:1223012G>A	ENST00000326873.7	+	8	2122	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	317					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.E317*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCGGCTGAAGCACCAGT	0.647		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	21	Whole gene deletion(20)|Substitution - Nonsense(1)	cervix(14)|lung(3)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											31	38	36					19																	1223012		2090	4213	6303	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.949G>A	19.37:g.1223012G>A	ENSP00000324856:p.Glu317Lys		B2RBX7|E7EW76	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.E317K	ENST00000326873.7	37	c.949	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803437	0.31869	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.82803	-1.65	3.79	3.79	0.43588	Protein kinase-like domain (1);	0.099522	0.64402	D	0.000002	T	0.79088	0.4387	M	0.70275	2.135	0.58432	D	0.999999	B	0.26845	0.161	B	0.26614	0.071	T	0.73764	-0.3880	10	0.06236	T	0.91	-32.2594	14.8208	0.70070	0.0:0.0:1.0:0.0	.	317	Q15831	STK11_HUMAN	K	317	ENSP00000324856:E317K	ENSP00000324856:E317K	E	+	1	0	STK11	1174012	1.000000	0.71417	0.007000	0.13788	0.002000	0.02628	9.261000	0.95576	1.950000	0.56595	0.462000	0.41574	GAA	STK11	-	superfamily_Kinase-like_dom		0.647	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1223012	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	0.985	A	A	1223012	G	A	1223012	3	1	51	1	0	0	0	0	1	0	0	0	15317	1291	45	1	979	1	STK11	19	1223012	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		1223012	57905971	51	6944										
STK11	6794	genome.wustl.edu	37	chr19	1223135	1223135	+	Missense_Mutation	SNP	G	G	A													0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aggacctcttcgacatcgagGatgacatcatctacactcag					rs587778696		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:1223135G>A	ENST00000326873.7	+	8	2245	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	358					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACATCGAGGATGACATCAT	0.657		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											53	64	60					19																	1223135		2144	4258	6402	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1072G>A	19.37:g.1223135G>A	ENSP00000324856:p.Asp358Asn		B2RBX7|E7EW76	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.D358N	ENST00000326873.7	37	c.1072	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	.	11.30	1.598842	0.28445	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.69685	-0.42	3.79	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.71581	2.175	0.80722	D	1	B	0.30511	0.282	B	0.23574	0.047	T	0.54761	-0.8245	10	0.18710	T	0.47	-36.9147	11.6282	0.51158	0.0:0.0:0.8208:0.1792	.	358	Q15831	STK11_HUMAN	N	358	ENSP00000324856:D358N	ENSP00000324856:D358N	D	+	1	0	STK11	1174135	1.000000	0.71417	0.879000	0.34478	0.001000	0.01503	8.876000	0.92379	0.784000	0.33661	-0.521000	0.04368	GAT	STK11	-	NULL		0.657	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1223135	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1223135	G	A	1223135	3	1	51	1	0	0	0	0	1	0	0	0	15317	1174	41	1	1102	1	STK11	19	1223135	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	123	1223135	57905848	52	6945	34	2								
STK11	6794	genome.wustl.edu	37	chr19	1223138	1223138	+	Missense_Mutation	SNP	G	G	T													0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acctcttcgacatcgaggatGacatcatctacactcaggac							TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:1223138G>T	ENST00000326873.7	+	8	2248	c.1075G>T	c.(1075-1077)Gac>Tac	p.D359Y		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	359					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGAGGATGACATCATCTA	0.657		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											52	63	59					19																	1223138		2143	4254	6397	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1075G>T	19.37:g.1223138G>T	ENSP00000324856:p.Asp359Tyr		B2RBX7|E7EW76	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.D359Y	ENST00000326873.7	37	c.1075	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827707	0.32329	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.69926	-0.44	3.79	2.75	0.32379	.	0.163915	0.52532	D	0.000064	T	0.60919	0.2306	M	0.62723	1.935	0.54753	D	0.99998	B	0.31859	0.343	B	0.31245	0.126	T	0.61505	-0.7049	10	0.54805	T	0.06	-23.2492	10.1418	0.42740	0.0986:0.0:0.9014:0.0	.	359	Q15831	STK11_HUMAN	Y	359	ENSP00000324856:D359Y	ENSP00000324856:D359Y	D	+	1	0	STK11	1174138	1.000000	0.71417	0.836000	0.33094	0.002000	0.02628	7.067000	0.76741	0.805000	0.34159	0.462000	0.41574	GAC	STK11	-	NULL		0.657	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1223138	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1223138	G	T	1223138	3	4	51	1	0	0	0	0	1	0	0	0	15317	1290	45	3	1105	3	STK11	19	1223138	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	3	1223138	57905845	53	6946	34	2								
KCTD15	79047	genome.wustl.edu	37	chr19	34302236	34302236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	agcgctggcagcaggagcagGagcagcggcgccgcagccgg	19	13	0	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:34302236G>A	ENST00000430256.3	+	5	880	c.472G>A	c.(472-474)Gag>Aag	p.E158K	KCTD15_ENST00000588881.1_Missense_Mutation_p.E158K|KCTD15_ENST00000284006.6_Missense_Mutation_p.E158K|KCTD15_ENST00000589786.1_Missense_Mutation_p.E158K			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	158					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GCAGGAGCAGGAGCAGCGGCG	0.692																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												0																																										SO:0001583	missense	79047			AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"potassium channel tetramerisation domain containing 15"			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.472G>A	19.37:g.34302236G>A	ENSP00000394390:p.Glu158Lys		A8K600|Q9BVI6	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E158K	ENST00000430256.3	37	c.472	CCDS46039.1	19	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803135	0.70682	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.44482	0.92;0.92	5.02	5.02	0.67125	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.54323	1.7	0.80722	D	1	B;B	0.19706	0.038;0.016	B;B	0.14023	0.01;0.009	T	0.20672	-1.0268	10	0.26408	T	0.33	.	17.3334	0.87272	0.0:0.0:1.0:0.0	.	158;158	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	K	158;158;161	ENSP00000394390:E158K;ENSP00000284006:E158K	ENSP00000284006:E158K	E	+	1	0	KCTD15	38994076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.403000	0.97302	2.339000	0.79563	0.591000	0.81541	GAG	KCTD15	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.692	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD15	HGNC	protein_coding	OTTHUMT00000451462.2	G	NM_024076		34302236	1	no_errors	ENST00000430256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34302236	G	A	34302236	3	1	51	1	0	0	0	0	1	0	0	0	8122	1175	41	1	486	1	KCTD15	19	34302236	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	33079098	34302236	24826747	54	6947										
ZNF829	374899	genome.wustl.edu	37	chr19	37383008	37383008	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	agtgtgaatcctctgatgttGagaaaaatatgaactacaac	8	6	1	4			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:37383008G>A	ENST00000391711.3	-	6	1049	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Nonsense_Mutation_p.Q310*|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTTGAGAAAAATAT	0.383																																																	0													63	66	65					19																	37383008		2198	4297	6495	SO:0001587	stop_gained	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.685C>T	19.37:g.37383008G>A	ENSP00000429266:p.Gln229*		Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q310*	ENST00000391711.3	37	c.928	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762764	0.89932	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2277	0.10589	0.1207:0.0:0.6505:0.2289	.	.	.	.	X	229	.	ENSP00000429266:Q229X	Q	-	1	0	ZNF829	42074848	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.274000	0.08537	2.140000	0.66376	0.650000	0.86243	CAA	ZNF829	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37383008	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	nonsense	SNP	0.029	A	A	37383008	G	A	37383008	4	1	51	1	0	0	0	0	0	1	0	0	18212	1299	45	1	617	1	ZNF829	19	37383008	Nonsense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	3080772	37383008	21745975	55	6948										
RELB	5971	genome.wustl.edu	37	chr19	45537560	45537560	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cccgacgtccttggggagctGaacagctctggtgtgtgccc	14	13	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:45537560G>C	ENST00000221452.8	+	10	1416	c.1266G>C	c.(1264-1266)ctG>ctC	p.L422L	RELB_ENST00000505236.1_Silent_p.L419L|RELB_ENST00000540120.1_Silent_p.L422L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	422	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TTGGGGAGCTGAACAGCTCTG	0.612																																																	0													53	56	55					19																	45537560		1971	4142	6113	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1266G>C	19.37:g.45537560G>C			Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.L422	ENST00000221452.8	37	c.1266	CCDS46110.1	19																																																																																			RELB	-	superfamily_Ig_E-set		0.612	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	G			45537560	1	no_errors	ENST00000221452	ensembl	human	known	70_37	silent	SNP	1.000	C	C	45537560	G	C	45537560	2	2	51	1	0	0	0	0	0	0	0	1	13247	1277	45	1		1	RELB	19	45537560	Silent	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09	8154552	45537560	13591423	56	6949										
VN1R1	57191	genome.wustl.edu	37	chr19	57967496	57967496	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aataaaagacaaacttacatCcagtgtcattcagcaaatat	4	8	2	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:57967496C>G	ENST00000321039.3	-	1	358	c.359G>C	c.(358-360)gGa>gCa	p.G120A	AC004076.9_ENST00000596831.1_Missense_Mutation_p.G85A|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	120					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AAACTTACATCCAGTGTCATT	0.448																																																	0													74	70	72					19																	57967496		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.359G>C	19.37:g.57967496C>G	ENSP00000322339:p.Gly120Ala		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.G120A	ENST00000321039.3	37	c.359	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297007	0.40594	.	.	ENSG00000178201	ENST00000321039	T	0.08634	3.07	4.18	-0.69	0.11309	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15435	0.0372	M	0.80422	2.495	0.09310	N	1	P	0.49358	0.923	P	0.52309	0.695	T	0.15838	-1.0423	9	0.59425	D	0.04	.	0.8571	0.01185	0.166:0.3926:0.1615:0.2799	.	120	Q9GZP7	VN1R1_HUMAN	A	120	ENSP00000322339:G120A	ENSP00000322339:G120A	G	-	2	0	VN1R1	62659308	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.155000	0.16362	-0.068000	0.12953	-0.155000	0.13514	GGA	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1		0.448	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	C	NM_020633		57967496	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.080	G	G	57967496	C	G	57967496	3	3	51	1	0	0	0	0	1	0	0	0	17209	855	30	1	706	1	VN1R1	19	57967496	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	12429936	57967496	1161487	57	6950										
KRTAP11-1	337880	genome.wustl.edu	37	chr21	32253413	32253413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acgtcctggagaccccacagGctggctggcagacagtagag	14	12	0	3			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr21:32253413G>A	ENST00000332378.4	-	1	461	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	144	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GACCCCACAGGCTGGCTGGCA	0.597																																																	0													59	61	60					21																	32253413		2203	4300	6503	SO:0001583	missense	337880			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.431C>T	21.37:g.32253413G>A	ENSP00000330720:p.Ala144Val		A1L4I8	Missense_Mutation	SNP	pfam_PMG	p.A144V	ENST00000332378.4	37	c.431	CCDS13608.1	21	.	.	.	.	.	.	.	.	.	.	G	3.319	-0.139158	0.06669	.	.	ENSG00000182591	ENST00000332378	T	0.03094	4.05	5.25	2.46	0.29980	.	0.422284	0.21335	N	0.076226	T	0.03564	0.0102	L	0.39633	1.23	0.26801	N	0.969195	B	0.13145	0.007	B	0.17098	0.017	T	0.43426	-0.9392	10	0.18710	T	0.47	-4.1135	8.9124	0.35561	0.2484:0.0:0.7516:0.0	.	144	Q8IUC1	KR111_HUMAN	V	144	ENSP00000330720:A144V	ENSP00000330720:A144V	A	-	2	0	KRTAP11-1	31175284	0.236000	0.23804	0.887000	0.34795	0.775000	0.43874	1.815000	0.38981	0.320000	0.23234	-0.142000	0.14014	GCC	KRTAP11-1	-	pfam_PMG		0.597	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	G			32253413	-1	no_errors	ENST00000332378	ensembl	human	known	70_37	missense	SNP	0.981	A	A	32253413	G	A	32253413	3	1	51	1	0	0	0	0	1	0	0	0	8537	1203	42	4	64	4	KRTAP11-1	21	32253413	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		32253413	15876482	58	6951										
GTPBP1	9567	genome.wustl.edu	37	chr22	39112679	39112679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tagcagtggtgggcaacgtgGatgctggcaaaagcacgctt	15	8	0	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr22:39112679G>A	ENST00000216044.5	+	4	741	c.508G>A	c.(508-510)Gat>Aat	p.D170N		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	170	G1. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGGCAACGTGGATGCTGGCAA	0.532																																																	0													36	38	37					22																	39112679		2203	4300	6503	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.508G>A	22.37:g.39112679G>A	ENSP00000216044:p.Asp170Asn		Q6IC67	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.D170N	ENST00000216044.5	37	c.508	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863063	0.91511	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.81078	-1.45;-1.45	5.27	4.22	0.49857	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90965	0.4815	10	0.56958	D	0.05	.	15.6103	0.76710	0.0:0.1382:0.8618:0.0	.	170	O00178	GTPB1_HUMAN	N	170;89	ENSP00000216044:D170N;ENSP00000442881:D89N	ENSP00000216044:D170N	D	+	1	0	GTPBP1	37442625	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.905000	0.87416	1.145000	0.42336	0.563000	0.77884	GAT	GTPBP1	-	pfam_EF_GTP-bd_dom		0.532	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286		39112679	1	no_errors	ENST00000216044	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39112679	G	A	39112679	3	1	51	1	0	0	0	0	1	0	0	0	6898	1174	41	1	522	1	GTPBP1	22	39112679	Missense_Mutation	SNP	G	TCGA-C5-A7X3-01A-11D-A351-09		39112679	12191887	59	6952										
SMS	6611	genome.wustl.edu	37	chrX	21990688	21990688	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	acagtactgggcgggtgaaaCggtaagtccactcttgaatg	13	8	1	2			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:21990688C>T	ENST00000404933.2	+	4	580	c.328C>T	c.(328-330)Cga>Tga	p.R110*	SMS_ENST00000478094.1_3'UTR|SMS_ENST00000379404.1_Intron|SMS_ENST00000415881.2_Splice_Site_p.R14*	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	110					cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GCGGGTGAAACGGTAAGTCCA	0.388																																																	0													68	62	64					X																	21990688		2203	4300	6503	SO:0001630	splice_region_variant	6611			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.329+1C>T	X.37:g.21990688C>T			A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Nonsense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase	p.R110*	ENST00000404933.2	37	c.328	CCDS14203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.604516|3.604516	0.66445|0.66445	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000404933;ENST00000415881|ENST00000457085	.|.	.|.	.|.	5.7|5.7	3.85|3.85	0.44370|0.44370	.|.	0.050929|.	0.85682|.	D|.	0.000000|.	.|T	.|0.60612	.|0.2282	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66192	.|-0.5985	.|3	0.13108|.	T|.	0.6|.	-14.7087|-14.7087	11.8077|11.8077	0.52165|0.52165	0.4609:0.5391:0.0:0.0|0.4609:0.5391:0.0:0.0	.|.	.|.	.|.	.|.	X|M	110;14|201	.|.	ENSP00000385746:R110X|.	R|T	+|+	1|2	2|0	SMS|SMS	21900609|21900609	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.408000|0.408000	0.30992|0.30992	1.240000|1.240000	0.32731|0.32731	0.492000|0.492000	0.27815|0.27815	0.600000|0.600000	0.82982|0.82982	CGA|ACG	SMS	-	NULL		0.388	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMS	HGNC	protein_coding	OTTHUMT00000056032.1	C	NM_004595	Nonsense_Mutation	21990688	1	no_errors	ENST00000404933	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	21990688	C	T	21990688	5	4	51	1	0	0	0	0	0	0	1	0	14843	550	19	2	342	2	SMS	23	21990688	Splice_Site	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09		21990688	133279872	60	6953										
SMC1A	8243	genome.wustl.edu	37	chrX	53438811	53438811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	cctgggccagggtagctgctCtcttgctggcttcttctttc	11	13	3	0			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:53438811C>G	ENST00000322213.4	-	7	1281	c.1154G>C	c.(1153-1155)aGa>aCa	p.R385T	SMC1A_ENST00000375340.6_Missense_Mutation_p.R151T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	385					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGTAGCTGCTCTCTTGCTGGC	0.527																																																	0													137	115	122					X																	53438811		2203	4300	6503	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1154G>C	X.37:g.53438811C>G	ENSP00000323421:p.Arg385Thr		O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.R385T	ENST00000322213.4	37	c.1154	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131599	0.37630	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;T	0.78816	-1.21;3.04	4.64	4.64	0.57946	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	L	0.31207	0.915	0.80722	D	1	B;B;P	0.36483	0.051;0.129;0.555	B;B;B	0.34242	0.018;0.046;0.178	T	0.66280	-0.5963	10	0.27785	T	0.31	.	15.7117	0.77631	0.0:1.0:0.0:0.0	.	151;363;385	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	T	385;151	ENSP00000323421:R385T;ENSP00000364489:R151T	ENSP00000323421:R385T	R	-	2	0	SMC1A	53455536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.710000	0.61873	2.039000	0.60335	0.600000	0.82982	AGA	SMC1A	-	pfam_RecF/RecN/SMC,prints_Tropomyosin		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	C	NM_006306		53438811	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53438811	C	G	53438811	3	3	51	1	0	0	0	0	1	0	0	0	14811	913	32	1	2623	1	SMC1A	23	53438811	Missense_Mutation	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	31448123	53438811	101831749	61	6954										
SPANXN1	494118	genome.wustl.edu	37	chrX	144337280	144337280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	tcaacagtattagcgttttgCtacaggaaagctaagaaaat	8	6	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:144337280C>T	ENST00000370493.3	+	2	924	c.165C>T	c.(163-165)tgC>tgT	p.C55C		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	55								p.C55C(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTTTTGCTACAGGAAAG	0.433																																																	2	Substitution - coding silent(2)	lung(2)											181	156	164					X																	144337280		2203	4297	6500	SO:0001819	synonymous_variant	494118				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.165C>T	X.37:g.144337280C>T				Silent	SNP	pfam_SPANX_prot	p.C55	ENST00000370493.3	37	c.165	CCDS35421.1	X																																																																																			SPANXN1	-	pfam_SPANX_prot		0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN1	HGNC	protein_coding	OTTHUMT00000058631.2	C	NM_001009614		144337280	1	no_errors	ENST00000370493	ensembl	human	known	70_37	silent	SNP	0.001	T	T	144337280	C	T	144337280	2	4	51	1	0	0	0	0	0	0	0	1	15020	805	28	4		4	SPANXN1	23	144337280	Silent	SNP	C	TCGA-C5-A7X3-01A-11D-A351-09	90898469	144337280	10933280	62	6955										
GABRE	2564	genome.wustl.edu	37	chrX	151123327	151123327	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.258064516129032	16	0.000144099143488982	2.84989429175476	6.4122621564482	1.66243833685694	0.724434696663453	0.895161344921719	10	aatcggggaccatgcagaagTacttcttaaaacgcttgcac	9	10	1	1			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:151123327T>A	ENST00000370328.3	-	9	1420	c.1367A>T	c.(1366-1368)tAc>tTc	p.Y456F	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	456					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGCAGAAGTACTTCTTAAA	0.597																																																	0													52	50	50					X																	151123327		2203	4300	6503	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1367A>T	X.37:g.151123327T>A	ENSP00000359353:p.Tyr456Phe		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y456F	ENST00000370328.3	37	c.1367	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	T	6.567	0.472946	0.12461	.	.	ENSG00000102287	ENST00000370328	D	0.85171	-1.95	5.68	2.98	0.34508	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.280531	0.25050	N	0.033535	T	0.76941	0.4058	N	0.10760	0.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74768	-0.3553	10	0.02654	T	1	.	4.0767	0.09908	0.5249:0.1053:0.0:0.3698	.	456	P78334	GBRE_HUMAN	F	456	ENSP00000359353:Y456F	ENSP00000359353:Y456F	Y	-	2	0	GABRE	150873983	1.000000	0.71417	0.073000	0.20177	0.711000	0.40976	2.721000	0.47260	0.650000	0.30769	0.486000	0.48141	TAC	GABRE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.597	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	T	NM_004961, NM_021990, NM_021984		151123327	-1	no_errors	ENST00000370328	ensembl	human	known	70_37	missense	SNP	0.990	A	A	151123327	T	A	151123327	3	1	51	1	0	0	0	0	1	0	0	0	6188	1638	57	5	157	5	GABRE	23	151123327	Missense_Mutation	SNP	T	TCGA-C5-A7X3-01A-11D-A351-09	6786047	151123327	4147233	63	6956										
KLHDC7A	127707	genome.wustl.edu	37	chr1	18807595	18807595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gcctacaggctgtacaagtcGaggcctgccccagcccagcg	12	16	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:18807595G>A	ENST00000400664.1	+	1	172	c.120G>A	c.(118-120)tcG>tcA	p.S40S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	40						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTACAAGTCGAGGCCTGCCC	0.642																																																	0													29	34	32					1																	18807595		2035	4196	6231	SO:0001819	synonymous_variant	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.120G>A	1.37:g.18807595G>A			Q8N8W6	Silent	SNP	pfam_Kelch_1,smart_Kelch_1	p.S40	ENST00000400664.1	37	c.120	CCDS185.2	1																																																																																			KLHDC7A	-	NULL		0.642	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	G	NM_152375		18807595	1	no_errors	ENST00000400664	ensembl	human	known	70_37	silent	SNP	0.940	A	A	18807595	G	A	18807595	2	1	52	1	0	0	0	0	0	0	0	1	8380	1045	37	1		1	KLHDC7A	1	18807595	Silent	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		18807595	230443026	1	6957										
KIAA0754	643314	genome.wustl.edu	37	chr1	39878480	39878480	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cactgtcaaagatgccctagAtgctgcactgcccagcccag	9	15	1	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:39878480A>T	ENST00000530275.1	+	1	2330	c.2135A>T	c.(2134-2136)gAt>gTt	p.D712V	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	712										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGCCCTAGATGCTGCACTG	0.547																																																	0													37	37	37					1																	39878480		1984	4164	6148	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2135A>T	1.37:g.39878480A>T	ENSP00000431179:p.Asp712Val		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.D712V	ENST00000530275.1	37	c.2135		1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418991	0.42918	.	.	ENSG00000255103	ENST00000530275	T	0.29655	1.56	4.0	1.52	0.23074	.	.	.	.	.	T	0.17874	0.0429	N	0.24115	0.695	0.09310	N	0.999999	P	0.36354	0.549	B	0.34779	0.189	T	0.14952	-1.0454	9	0.59425	D	0.04	.	4.4398	0.11568	0.4834:0.3975:0.1191:0.0	.	712	O94854	K0754_HUMAN	V	712	ENSP00000431179:D712V	ENSP00000431179:D712V	D	+	2	0	RP4-562N20.1	39651067	0.006000	0.16342	0.001000	0.08648	0.556000	0.35491	-0.276000	0.08514	0.046000	0.15833	0.459000	0.35465	GAT	KIAA0754	-	NULL		0.547	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	A	NM_015038		39878480	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.005	T	T	39878480	A	T	39878480	3	4	52	1	0	0	0	0	1	0	0	0	8212	333	12	5	2545	5	KIAA0754	1	39878480	Missense_Mutation	SNP	A	TCGA-DG-A2KH-01A-21D-A22X-09	21070885	39878480	209372141	2	6958										
PRKAA2	5563	genome.wustl.edu	37	chr1	57173318	57173318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cattgtcttcagtttcacctCgcctgggcagtcacaccatg	8	14	4	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:57173318C>T	ENST00000371244.4	+	9	1657	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	531					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGTTTCACCTCGCCTGGGCAG	0.443																																																	0													157	140	146					1																	57173318		2203	4300	6503	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1591C>T	1.37:g.57173318C>T	ENSP00000360290:p.Arg531Cys		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R531C	ENST00000371244.4	37	c.1591	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887719	0.91814	.	.	ENSG00000162409	ENST00000371244	T	0.73897	-0.79	5.99	5.99	0.97316	.	0.050193	0.85682	D	0.000000	T	0.77935	0.4205	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	P	0.49361	0.608	T	0.77958	-0.2392	10	0.52906	T	0.07	-14.2262	20.4777	0.99188	0.0:1.0:0.0:0.0	.	531	P54646	AAPK2_HUMAN	C	531	ENSP00000360290:R531C	ENSP00000360290:R531C	R	+	1	0	PRKAA2	56945906	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CGC	PRKAA2	-	NULL		0.443	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	C	NM_006252		57173318	1	no_errors	ENST00000371244	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57173318	C	T	57173318	3	4	52	1	0	0	0	0	1	0	0	0	12521	884	31	1	1625	1	PRKAA2	1	57173318	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	17294838	57173318	192077303	3	6959										
ZRANB2	9406	genome.wustl.edu	37	chr1	71542532	71542533	+	Frame_Shift_Ins	INS	-	-	T													0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ttacacatattacactctgaINStcttctggcccaattcacat							TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:71542532_71542533insT	ENST00000370920.3	-	4	547_548	c.246_247insA	c.(244-249)agatcafs	p.S83fs	ZRANB2_ENST00000254821.6_Frame_Shift_Ins_p.S83fs	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	83					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTACACTCTGATCTTCTGGCCC	0.272																																																	0																																										SO:0001589	frameshift_variant	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.247dupA	1.37:g.71542533_71542533dupT	ENSP00000359958:p.Ser83fs		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Frame_Shift_Ins	INS	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.S82fs	ENST00000370920.3	37	c.247_246	CCDS659.1	1																																																																																			ZRANB2	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2		0.272	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	-	NM_203350		71542533	-1	no_errors	ENST00000370920	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	71542533	-	T	71542532	7	5	52	1	0	1	1	0	0	0	0	0	18253	333	12	0	811	0	ZRANB2	1	71542532	Frame_Shift_Ins	INS	-	TCGA-DG-A2KH-01A-21D-A22X-09	14369214	71542532	177708089	4	6960	35	2								
ZRANB2	9406	genome.wustl.edu	37	chr1	71542534	71542534	+	Missense_Mutation	SNP	C	C	T													0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tacacatattacactctgatCttctggcccaattcacattg							TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:71542534C>T	ENST00000370920.3	-	4	546	c.245G>A	c.(244-246)aGa>aAa	p.R82K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R82K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	82					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACACTCTGATCTTCTGGCCCA	0.269																																																	0													111	114	113					1																	71542534		2202	4297	6499	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.245G>A	1.37:g.71542534C>T	ENSP00000359958:p.Arg82Lys		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.R82K	ENST00000370920.3	37	c.245	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792649	0.70452	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	D;D	0.82167	-1.58;-1.58	5.27	4.35	0.52113	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	H	0.95745	3.715	0.58432	D	0.999998	B;D	0.76494	0.041;0.999	B;D	0.76071	0.065;0.987	D	0.94421	0.7641	10	0.72032	D	0.01	.	14.8431	0.70240	0.1452:0.8548:0.0:0.0	.	82;82	O95218;O95218-2	ZRAB2_HUMAN;.	K	82	ENSP00000359958:R82K;ENSP00000254821:R82K	ENSP00000254821:R82K	R	-	2	0	ZRANB2	71315122	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	7.439000	0.80444	1.210000	0.43336	-0.518000	0.04402	AGA	ZRANB2	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2		0.269	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	C	NM_203350		71542534	-1	no_errors	ENST00000370920	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71542534	C	T	71542534	3	4	52	1	0	0	0	0	1	0	0	0	18253	913	32	1	813	1	ZRANB2	1	71542534	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	2	71542534	177708087	5	6961	35	2								
SLC6A17	388662	genome.wustl.edu	37	chr1	110738295	110738295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	caccatgttcgatgactactCggccaccctgccactcactc	6	18	1	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:110738295C>G	ENST00000331565.4	+	10	2065	c.1580C>G	c.(1579-1581)tCg>tGg	p.S527W		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	527					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GATGACTACTCGGCCACCCTG	0.537																																																	0													104	86	92					1																	110738295		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1580C>G	1.37:g.110738295C>G	ENSP00000330199:p.Ser527Trp		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.S527W	ENST00000331565.4	37	c.1580	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600140	0.87055	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77489	-1.1	5.65	4.71	0.59529	.	0.123466	0.56097	D	0.000021	D	0.86033	0.5836	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88819	0.3297	10	0.87932	D	0	.	16.3653	0.83319	0.0:0.8677:0.1323:0.0	.	527	Q9H1V8	S6A17_HUMAN	W	527	ENSP00000330199:S527W	ENSP00000330199:S527W	S	+	2	0	SLC6A17	110539818	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.715000	0.84713	1.342000	0.45619	0.655000	0.94253	TCG	SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.537	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	C	XM_371280		110738295	1	no_errors	ENST00000331565	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110738295	C	G	110738295	3	3	52	1	0	0	0	0	1	0	0	0	14710	893	31	1	1614	1	SLC6A17	1	110738295	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	39195761	110738295	138512326	6	6962										
FAM63A	55793	genome.wustl.edu	37	chr1	150975116	150975116	+	5'UTR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tcaaaagggacttggctgagGggcactgaaggtgtttacta	14	6	1	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:150975116G>C	ENST00000361936.5	-	0	932				FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.P41R|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGGCTGAGGGGCACTGAAG	0.522																																																	0													43	41	41					1																	150975116		2203	4299	6502	SO:0001623	5_prime_UTR_variant	55793			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.-23C>G	1.37:g.150975116G>C			B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.P41R	ENST00000361936.5	37	c.122	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623460	0.28889	.	.	ENSG00000143409	ENST00000361738	T	0.48522	0.81	5.18	2.08	0.27032	.	1.814860	0.03311	N	0.190489	T	0.16171	0.0389	.	.	.	0.09310	N	1	B	0.22983	0.078	B	0.25405	0.06	T	0.19943	-1.0290	9	0.46703	T	0.11	-2.9086	4.1078	0.10045	0.1933:0.0:0.6111:0.1956	.	41	Q8N5J2-3	.	R	41	ENSP00000354669:P41R	ENSP00000354669:P41R	P	-	2	0	FAM63A	149241740	0.001000	0.12720	0.001000	0.08648	0.027000	0.11550	0.534000	0.23098	0.764000	0.33197	0.655000	0.94253	CCC	FAM63A	-	NULL		0.522	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	G	NM_018379		150975116	-1	no_errors	ENST00000361738	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150975116	G	C	150975116	1	2	52	0	1	0	0	0	0	0	0	0	5614	1232	43	4		4	FAM63A	1	150975116	5'UTR	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	40236821	150975116	98275505	7	6963										
FAM78B	149297	genome.wustl.edu	37	chr1	166039976	166039976	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gcttttactctcccttccctCaagtcaggcagttcccagct	6	16	3	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:166039976C>G	ENST00000338353.3	-	3	877	c.288G>C	c.(286-288)ttG>ttC	p.L96F	FAM78B_ENST00000354422.3_Missense_Mutation_p.L96F			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	96										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TCCCTTCCCTCAAGTCAGGCA	0.512																																																	0													53	53	53					1																	166039976		2203	4300	6503	SO:0001583	missense	149297			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.288G>C	1.37:g.166039976C>G	ENSP00000339681:p.Leu96Phe		B7Z693	Missense_Mutation	SNP	NULL	p.L96F	ENST00000338353.3	37	c.288	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401339	0.62288	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.75777	2.31	0.51233	D	0.999911	D	0.76494	0.999	D	0.80764	0.994	T	0.77869	-0.2427	8	0.87932	D	0	-2.9861	17.3458	0.87309	0.0:1.0:0.0:0.0	.	96	Q5VT40	FA78B_HUMAN	F	96	.	ENSP00000339681:L96F	L	-	3	2	FAM78B	164306600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.013000	0.40942	2.758000	0.94735	0.655000	0.94253	TTG	FAM78B	-	NULL		0.512	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	HGNC	protein_coding	OTTHUMT00000343108.1	C	NM_001017961		166039976	-1	no_errors	ENST00000338353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	166039976	C	G	166039976	3	3	52	1	0	0	0	0	1	0	0	0	5645	825	29	1	501	1	FAM78B	1	166039976	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	15064860	166039976	83210645	8	6964										
POGK	57645	genome.wustl.edu	37	chr1	166818801	166818801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ggcataaagtgcccgtgcccCagcacctgccggaagacctg	12	15	0	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:166818801C>A	ENST00000367875.1	+	5	1345	c.985C>A	c.(985-987)Cag>Aag	p.Q329K	POGK_ENST00000367876.4_Missense_Mutation_p.Q329K|POGK_ENST00000536514.1_Missense_Mutation_p.Q244K|POGK_ENST00000537173.1_Missense_Mutation_p.Q211K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	329					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GCCCGTGCCCCAGCACCTGCC	0.537																																					GBM(76;192 1530 30153 48742)												0													77	80	79					1																	166818801		2203	4300	6503	SO:0001583	missense	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.985C>A	1.37:g.166818801C>A	ENSP00000356849:p.Gln329Lys		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Q329K	ENST00000367875.1	37	c.985	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673379	0.67928	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.32753	1.46;1.44;4.7;4.7	5.5	5.5	0.81552	.	0.000000	0.48286	D	0.000190	T	0.30792	0.0776	N	0.24115	0.695	0.33422	D	0.579952	D;P;P	0.76494	0.999;0.841;0.734	D;P;B	0.70716	0.97;0.448;0.239	T	0.02519	-1.1147	8	.	.	.	-39.1592	16.94	0.86215	0.0:1.0:0.0:0.0	.	211;244;329	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	K	211;244;329;329	ENSP00000442763:Q211K;ENSP00000441187:Q244K;ENSP00000356850:Q329K;ENSP00000356849:Q329K	.	Q	+	1	0	POGK	165085425	0.999000	0.42202	0.997000	0.53966	0.986000	0.74619	4.489000	0.60309	2.861000	0.98227	0.655000	0.94253	CAG	POGK	-	NULL		0.537	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	C	NM_017542		166818801	1	no_errors	ENST00000367875	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166818801	C	A	166818801	3	1	52	1	0	0	0	0	1	0	0	0	12209	595	21	4	999	4	POGK	1	166818801	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	778825	166818801	82431820	9	6965										
IPO9	55705	genome.wustl.edu	37	chr1	201798396	201798396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gccgggtccagtggcacaagGattaaaggaagcgttagtgg	16	7	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:201798396G>A	ENST00000361565.4	+	1	128	c.59G>A	c.(58-60)gGa>gAa	p.G20E	IPO9_ENST00000464348.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|IPO9-AS1_ENST00000421159.1_RNA|IPO9-AS1_ENST00000421449.1_RNA	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	20					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGGCACAAGGATTAAAGGAA	0.667																																																	0													26	25	26					1																	201798396		2194	4290	6484	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.59G>A	1.37:g.201798396G>A	ENSP00000354742:p.Gly20Glu		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G20E	ENST00000361565.4	37	c.59	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141607	0.57044	.	.	ENSG00000198700	ENST00000361565	.	.	.	5.42	5.42	0.78866	Armadillo-like helical (1);	0.053556	0.85682	D	0.000000	T	0.38295	0.1035	N	0.08118	0	0.54753	D	0.999982	B	0.06786	0.001	B	0.04013	0.001	T	0.19614	-1.0300	9	0.21014	T	0.42	-2.2909	16.6887	0.85315	0.0:0.0:1.0:0.0	.	20	Q96P70	IPO9_HUMAN	E	20	.	ENSP00000354742:G20E	G	+	2	0	IPO9	200065019	1.000000	0.71417	0.981000	0.43875	0.497000	0.33675	5.168000	0.64978	2.513000	0.84729	0.655000	0.94253	GGA	IPO9	-	NULL		0.667	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	G	NM_018085		201798396	1	no_errors	ENST00000361565	ensembl	human	known	70_37	missense	SNP	0.996	A	A	201798396	G	A	201798396	3	1	52	1	0	0	0	0	1	0	0	0	7819	1174	41	1	61	1	IPO9	1	201798396	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	34979595	201798396	47452225	10	6966										
RYR2	6262	genome.wustl.edu	37	chr1	237787089	237787089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	atatgcttctcaattttaagGatgacaaaagtgaatgtcca	7	6	1	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr1:237787089G>A	ENST00000366574.2	+	39	6258	c.5941G>A	c.(5941-5943)Gat>Aat	p.D1981N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1979N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1965N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1981	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTAAGGATGACAAAAG	0.363																																																	0													94	91	92					1																	237787089		1837	4094	5931	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5941G>A	1.37:g.237787089G>A	ENSP00000355533:p.Asp1981Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D1979N	ENST00000366574.2	37	c.5935	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614094	0.66672	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72615	-0.67;-0.67;-0.67	5.34	5.34	0.76211	.	0.075917	0.48767	D	0.000166	T	0.51398	0.1672	N	0.10809	0.05	0.80722	D	1	B	0.19073	0.033	B	0.20184	0.028	T	0.47699	-0.9097	10	0.28530	T	0.3	.	12.7761	0.57448	0.0755:0.0:0.9245:0.0	.	1981	Q92736	RYR2_HUMAN	N	1981;1979;1965	ENSP00000355533:D1981N;ENSP00000353174:D1979N;ENSP00000443798:D1965N	ENSP00000353174:D1979N	D	+	1	0	RYR2	235853712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.814000	0.62627	2.660000	0.90430	0.650000	0.86243	GAT	RYR2	-	NULL		0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237787089	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237787089	G	A	237787089	3	1	52	1	0	0	0	0	1	0	0	0	13799	1174	41	1	6095	1	RYR2	1	237787089	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	35988693	237787089	11463532	11	6967										
DPYSL5	56896	genome.wustl.edu	37	chr2	27164947	27164947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ctgatgtggtggtgtgggacCcagaagccacaaagtaaagt	14	7	0	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr2:27164947C>T	ENST00000288699.6	+	10	1377	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.P407S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	407					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTGGGACCCAGAAGCCAC	0.507											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	90	89					2																	27164947		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1219C>T	2.37:g.27164947C>T	ENSP00000288699:p.Pro407Ser	792	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P407S	ENST00000288699.6	37	c.1219	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.214029	0.95104	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89050	-2.46;-2.46	5.62	5.62	0.85841	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92463	0.7607	M	0.91561	3.22	0.58432	D	0.999999	P	0.47841	0.901	B	0.43536	0.423	D	0.94000	0.7274	10	0.72032	D	0.01	-11.5392	18.4289	0.90618	0.0:1.0:0.0:0.0	.	407	Q9BPU6	DPYL5_HUMAN	S	407	ENSP00000288699:P407S;ENSP00000385549:P407S	ENSP00000288699:P407S	P	+	1	0	DPYSL5	27018451	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.690000	0.84178	2.667000	0.90743	0.561000	0.74099	CCA	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.507	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	C	NM_020134		27164947	1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27164947	C	T	27164947	3	4	52	1	0	0	0	0	1	0	0	0	4760	623	22	4	1253	4	DPYSL5	2	27164947	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		27164947	216034426	12	6968										
CCDC141	285025	genome.wustl.edu	37	chr2	179714862	179714862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gtgttttgtcactattttctCaatatatttctgtccttctt	4	8	4	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr2:179714862C>T	ENST00000420890.2	-	21	3388	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E516K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1091										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACTATTTTCTCAATATATTTC	0.358																																																	0													101	98	99					2																	179714862		2203	4300	6503	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3271G>A	2.37:g.179714862C>T	ENSP00000395995:p.Glu1091Lys		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E1091K	ENST00000420890.2	37	c.3271		2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.814192	0.90790	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.35789	1.29;1.29;1.29	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000027	T	0.52403	0.1732	L	0.34521	1.04	0.42109	D	0.991371	D	0.89917	1.0	D	0.87578	0.998	T	0.51741	-0.8667	10	0.59425	D	0.04	-20.5715	19.4934	0.95062	0.0:1.0:0.0:0.0	.	516	Q6ZP82	CC141_HUMAN	K	1091;535;516	ENSP00000395995:E1091K;ENSP00000344627:E535K;ENSP00000295723:E516K	ENSP00000295723:E516K	E	-	1	0	CCDC141	179423107	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	4.859000	0.62954	2.718000	0.92993	0.650000	0.86243	GAG	CCDC141	-	NULL		0.358	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		C	NM_173648		179714862	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179714862	C	T	179714862	3	4	52	1	0	0	0	0	1	0	0	0	2780	835	29	1	1093	1	CCDC141	2	179714862	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	152549915	179714862	63484511	13	6969										
HDAC4	9759	genome.wustl.edu	37	chr2	240098187	240098187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ctccagctcctgctcctggcGgtgcctctccagcttccgct	9	19	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr2:240098187G>A	ENST00000345617.3	-	5	1203	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	HDAC4_ENST00000541256.1_Missense_Mutation_p.R107C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	138	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		tgctcctggcggtgcctctcc	0.602																																																	0													148	127	134					2																	240098187		2203	4300	6503	SO:0001583	missense	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.412C>T	2.37:g.240098187G>A	ENSP00000264606:p.Arg138Cys		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R138C	ENST00000345617.3	37	c.412	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569118	0.65765	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542;ENST00000446876	D;D;T;T	0.84873	-1.91;-1.91;0.67;0.52	2.74	2.74	0.32292	Histone deacetylase, glutamine rich N-terminal domain (1);	0.066133	0.64402	D	0.000009	D	0.86460	0.5938	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.996;0.999;0.999;0.976;0.976	P;P;P;P;P;P	0.54401	0.652;0.614;0.711;0.733;0.751;0.751	D	0.85562	0.1228	9	.	.	.	.	9.1379	0.36886	0.0:0.0:1.0:0.0	.	133;21;107;107;106;138	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	C	138;21;107;21;107;111	ENSP00000264606:R138C;ENSP00000443057:R107C;ENSP00000405226:R107C;ENSP00000392912:R111C	.	R	-	1	0	HDAC4	239763124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.202000	0.51067	1.845000	0.53610	0.491000	0.48974	CGC	HDAC4	-	pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk		0.602	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	G	NM_006037		240098187	-1	no_errors	ENST00000345617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	240098187	G	A	240098187	3	1	52	1	0	0	0	0	1	0	0	0	7029	1116	39	2	2934	2	HDAC4	2	240098187	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	60383325	240098187	3101186	14	6970										
KIF1A	547	genome.wustl.edu	37	chr2	241685531	241685531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gccctggccctccacgatgcGaagctcttcctgggaggttc	12	15	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr2:241685531G>A	ENST00000320389.7	-	28	2982	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1043C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	942					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCACGATGCGAAGCTCTTCC	0.642																																																	0													20	23	22					2																	241685531		2002	4161	6163	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2824C>T	2.37:g.241685531G>A	ENSP00000322791:p.Arg942Cys		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1043C	ENST00000320389.7	37	c.3127	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078009	0.76528	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.79845	-1.31;-1.31;-1.31	4.27	3.38	0.38709	.	0.000000	0.85682	U	0.000000	D	0.88757	0.6523	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.988;0.997;0.935	D	0.89053	0.3457	10	0.87932	D	0	.	11.7573	0.51882	0.0873:0.0:0.9127:0.0	.	1043;1043;942	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	942;1043;1043;1043	ENSP00000322791:R942C;ENSP00000438388:R1043C;ENSP00000384231:R1043C	ENSP00000322791:R942C	R	-	1	0	KIF1A	241334204	1.000000	0.71417	0.753000	0.31225	0.778000	0.44026	7.653000	0.83643	0.782000	0.33613	0.313000	0.20887	CGC	KIF1A	-	NULL		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241685531	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	A	A	241685531	G	A	241685531	3	1	52	1	0	0	0	0	1	0	0	0	8303	1058	37	1	2328	1	KIF1A	2	241685531	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	1587344	241685531	1513842	15	6971										
SETMAR	6419	genome.wustl.edu	37	chr3	4345118	4345118	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cggagtttaaggagaagcctGaggccccgactgagcagctg	15	10	0	3			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr3:4345118G>A	ENST00000358065.4	+	1	131	c.64G>A	c.(64-66)Gag>Aag	p.E22K	SETMAR_ENST00000430981.1_Missense_Mutation_p.E22K|SETMAR_ENST00000425863.1_Missense_Mutation_p.E22K|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	22	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGAGAAGCCTGAGGCCCCGAC	0.677								Chromatin Structure																																									0													35	32	33					3																	4345118		2203	4300	6503	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.64G>A	3.37:g.4345118G>A	ENSP00000373354:p.Glu22Lys		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E22K	ENST00000358065.4	37	c.64	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555076	0.65425	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	D;D;T	0.95035	-3.57;-3.59;0.54	5.07	3.19	0.36642	.	.	.	.	.	D	0.91209	0.7230	L	0.56769	1.78	0.09310	N	1	B;B;B	0.26081	0.03;0.141;0.046	B;B;B	0.18263	0.021;0.021;0.007	D	0.85012	0.0906	9	0.59425	D	0.04	.	6.713	0.23288	0.0966:0.1798:0.7236:0.0	.	22;9;22	E7EN68;Q53H47;C9JHK2	.;SETMR_HUMAN;.	K	22	ENSP00000373354:E22K;ENSP00000403000:E22K;ENSP00000403145:E22K	ENSP00000373354:E22K	E	+	1	0	SETMAR	4320118	0.001000	0.12720	0.005000	0.12908	0.273000	0.26683	0.889000	0.28282	1.356000	0.45884	0.591000	0.81541	GAG	SETMAR	-	NULL		0.677	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4345118	1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.006	A	A	4345118	G	A	4345118	3	1	52	1	0	0	0	0	1	0	0	0	14170	1291	45	1	66	1	SETMAR	3	4345118	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		4345118	193677312	16	6972										
DLEC1	9940	genome.wustl.edu	37	chr3	38080893	38080893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gaggccttccactacagcttCgcagcccggccccgccgcct	10	20	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr3:38080893C>T	ENST00000308059.6	+	1	198	c.177C>T	c.(175-177)ttC>ttT	p.F59F	DLEC1_ENST00000452631.2_Silent_p.F59F|DLEC1_ENST00000346219.3_Silent_p.F59F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACTACAGCTTCGCAGCCCGGC	0.672																																																	0													42	50	48					3																	38080893		1993	4180	6173	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.177C>T	3.37:g.38080893C>T				Silent	SNP	superfamily_PapD-like	p.F59	ENST00000308059.6	37	c.177	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.672	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38080893	1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	0.000	T	T	38080893	C	T	38080893	2	4	52	1	0	0	0	0	0	0	0	1	4562	883	31	1		1	DLEC1	3	38080893	Silent	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	33735775	38080893	159941537	17	6973										
MST1R	4486	genome.wustl.edu	37	chr3	49939929	49939929	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	aattagtgtgtccagcaggtCaatggggaaggcacagacga	14	7	1	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr3:49939929C>T	ENST00000296474.3	-	1	1141	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Missense_Mutation_p.D372N|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCCAGCAGGTCAATGGGGAAG	0.597																																																	0													122	124	123					3																	49939929		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1114G>A	3.37:g.49939929C>T	ENSP00000296474:p.Asp372Asn		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D372N	ENST00000296474.3	37	c.1114	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691569	0.30052	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04862	3.54;3.54	4.77	-3.95	0.04118	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.945233	0.09041	N	0.857363	T	0.04724	0.0128	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.15473	0.004;0.013;0.004;0.004;0.001	B;B;B;B;B	0.13407	0.009;0.003;0.009;0.009;0.005	T	0.43814	-0.9368	10	0.30078	T	0.28	-2.5115	3.1437	0.06464	0.1089:0.1162:0.3194:0.4556	.	372;372;372;372;372	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	N	372	ENSP00000296474:D372N;ENSP00000341325:D372N	ENSP00000296474:D372N	D	-	1	0	MST1R	49914933	0.000000	0.05858	0.006000	0.13384	0.983000	0.72400	-2.003000	0.01463	-0.670000	0.05282	0.561000	0.74099	GAC	MST1R	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49939929	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49939929	C	T	49939929	3	4	52	1	0	0	0	0	1	0	0	0	9914	826	29	1	3168	1	MST1R	3	49939929	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	11859036	49939929	148082501	18	6974										
KPNA1	3836	genome.wustl.edu	37	chr3	122152575	122152575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	agctgcttcttttcttgtccGaaattcagcagtttgtaaaa	7	8	3	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr3:122152575G>A	ENST00000344337.6	-	12	1359	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	395	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTTCTTGTCCGAAATTCAGCA	0.373																																					Melanoma(12;340 801 11196 19797)												0													99	98	98					3																	122152575		2203	4300	6503	SO:0001583	missense	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1183C>T	3.37:g.122152575G>A	ENSP00000343701:p.Arg395Trp		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.R395W	ENST00000344337.6	37	c.1183	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516101	0.85495	.	.	ENSG00000114030	ENST00000344337	T	0.70516	-0.49	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.64776	0.929	T	0.79598	-0.1737	10	0.87932	D	0	-13.479	13.0056	0.58703	0.0:0.0:0.8389:0.1611	.	395	P52294	IMA1_HUMAN	W	395	ENSP00000343701:R395W	ENSP00000343701:R395W	R	-	1	2	KPNA1	123635265	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.348000	0.66004	2.724000	0.93272	0.563000	0.77884	CGG	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.373	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	G	NM_002264		122152575	-1	no_errors	ENST00000344337	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122152575	G	A	122152575	3	1	52	1	0	0	0	0	1	0	0	0	8449	1057	37	1	445	1	KPNA1	3	122152575	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	72212646	122152575	75869855	19	6975										
IL8	3576	genome.wustl.edu	37	chr4	74606440	74606441	+	Splice_Site	INS	-	-	T													0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tctgcagctctgtgtgaaggINStaagcacatctttctgacct							TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr4:74606440_74606441insT	ENST00000307407.3	+	1	217		c.e1+1		IL8_ENST00000401931.1_Splice_Site	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN							activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		CTGTGTGAAGGTAAGCACATCT	0.436																																																	0																																										SO:0001630	splice_region_variant	3576																														ENST00000307407.3:c.64+1->T	4.37:g.74606441_74606441dupT			B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Splice_Site	INS	-	e1+1	ENST00000307407.3	37	c.64+1_64+1	CCDS34005.1	4																																																																																			IL8	-	-		0.436	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL8	HGNC	protein_coding	OTTHUMT00000322211.1	-		Intron	74606441	1	no_errors	ENST00000307407	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	T	T	74606441	-	T	74606440	8	5	52	1	0	1	1	0	0	0	1	0	7726	1275	44	0	67	0	IL8	4	74606440	Splice_Site	INS	-	TCGA-DG-A2KH-01A-21D-A22X-09		74606440	116547836	20	6976										
KIAA1712	80817	genome.wustl.edu	37	chr4	175224923	175224923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ttatccaatgtgggtttgcaGaatggaaaatccaaattgtt	9	5	0	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr4:175224923G>A	ENST00000503780.1	+	5	721	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	CEP44_ENST00000457424.2_Missense_Mutation_p.E103K|CEP44_ENST00000296519.4_Missense_Mutation_p.E103K|CEP44_ENST00000426172.1_Missense_Mutation_p.E103K	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	103						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TGGGTTTGCAGAATGGAAAAT	0.303																																																	0													75	78	77					4																	175224923		2201	4298	6499	SO:0001583	missense	80817			AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"KIAA1712"	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.307G>A	4.37:g.175224923G>A	ENSP00000423153:p.Glu103Lys		A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	NULL	p.E103K	ENST00000503780.1	37	c.307	CCDS34106.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.277061	0.95459	.	.	ENSG00000164118	ENST00000503780;ENST00000505124;ENST00000457424;ENST00000514712;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	T;T;T;T;T	0.64991	-0.07;-0.13;0.0;-0.13;-0.07	5.61	5.61	0.85477	.	0.056221	0.64402	D	0.000002	D	0.82595	0.5071	M	0.85197	2.74	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84454	0.0590	10	0.87932	D	0	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	103;103	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	K	103	ENSP00000423153:E103K;ENSP00000389427:E103K;ENSP00000421128:E103K;ENSP00000408221:E103K;ENSP00000296519:E103K	ENSP00000296519:E103K	E	+	1	0	CEP44	175461498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.789000	0.69029	2.804000	0.96469	0.650000	0.86243	GAA	CEP44	-	NULL		0.303	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP44	HGNC	protein_coding	OTTHUMT00000362109.2	G	NM_030633		175224923	1	no_errors	ENST00000426172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	175224923	G	A	175224923	3	1	52	1	0	0	0	0	1	0	0	0	8273	943	33	1	317	1	KIAA1712	4	175224923	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	100618483	175224923	15929353	21	6977										
SLC9A3	6550	genome.wustl.edu	37	chr5	476352	476353	+	Frame_Shift_Ins	INS	-	-	T													0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tcccgcttgtacagcttggcINScgccttcttgttctggttga					rs532462442|rs2230437	byFrequency	TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr5:476352_476353insT	ENST00000264938.3	-	13	2040_2041	c.2031_2032insA	c.(2029-2034)gcggccfs	p.A678fs	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.A669fs|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	678					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.A677A(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TACAGCTTGGCCGCCTTCTTGT	0.644																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001589	frameshift_variant	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2031_2032insA	5.37:g.476352_476353insT	ENSP00000264938:p.Ala678fs		B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Ins	INS	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A677fs	ENST00000264938.3	37	c.2032_2031	CCDS3855.1	5																																																																																			SLC9A3	-	NULL		0.644	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	-	NM_004174		476353	-1	no_errors	ENST00000264938	ensembl	human	known	70_37	frame_shift_ins	INS	0.042:0.000	T	T	476353	-	T	476352	7	5	52	1	0	1	1	0	0	0	0	0	14743	739	26	0	492	0	SLC9A3	5	476352	Frame_Shift_Ins	INS	-	TCGA-DG-A2KH-01A-21D-A22X-09		476352	180438908	22	6978										
SLC6A3	6531	genome.wustl.edu	37	chr5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gctctggtggaggtgcagcaCgccacgtctgcagaggggag	18	10	2	1	rs138948519		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr5:1422122C>T	ENST00000270349.9	-	5	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V221M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	221					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.V221M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGGTGCAGCACGCCACGTCTG	0.662																																																	1	Substitution - Missense(1)	pancreas(1)						C	MET/VAL	0,4406		0,0,2203	64	62	63		661	3.5	0.9	5	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A3	NM_001044.4	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	221/621	1422122	1,13005	2203	4300	6503	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.661G>A	5.37:g.1422122C>T	ENSP00000270349:p.Val221Met		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.V221M	ENST00000270349.9	37	c.661	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673830	0.47781	0.0	1.16E-4	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.77489	-1.1;-1.1;-1.1	4.4	3.53	0.40419	.	0.220952	0.37530	N	0.002060	D	0.85279	0.5660	M	0.89658	3.05	0.54753	D	0.999989	P	0.47191	0.891	P	0.53006	0.715	D	0.85139	0.0979	10	0.42905	T	0.14	.	10.424	0.44367	0.0:0.9015:0.0:0.0985	.	221	Q01959	SC6A3_HUMAN	M	221;221;147	ENSP00000270349:V221M;ENSP00000399806:V221M;ENSP00000429101:V147M	ENSP00000270349:V221M	V	-	1	0	SLC6A3	1475122	1.000000	0.71417	0.886000	0.34754	0.782000	0.44232	5.434000	0.66526	0.968000	0.38212	0.462000	0.41574	GTG	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.662	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	C	NM_001044		1422122	-1	no_errors	ENST00000270349	ensembl	human	known	70_37	missense	SNP	0.998	T	T	1422122	C	T	1422122	3	4	52	1	0	0	0	0	1	0	0	0	14715	536	19	2	1245	2	SLC6A3	5	1422122	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	945770	1422122	179493138	23	6979										
PCDHA8	56140	genome.wustl.edu	37	chr5	140220969	140220969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ctactcttgcttctgctcctCgcagcctggaaggtggggag	13	12	2	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr5:140220969C>T	ENST00000531613.1	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.L21L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	21					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGA	0.567																																																	0													65	68	67					5																	140220969		2203	4299	6502	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.63C>T	5.37:g.140220969C>T			B9EGT7|O75281	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L21	ENST00000531613.1	37	c.63	CCDS54919.1	5																																																																																			PCDHA8	-	NULL		0.567	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	C	NM_018911		140220969	1	no_errors	ENST00000531613	ensembl	human	known	70_37	silent	SNP	0.000	T	T	140220969	C	T	140220969	2	4	52	1	0	0	0	0	0	0	0	1	11554	871	31	1		1	PCDHA8	5	140220969	Silent	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	138798847	140220969	40694291	24	6980										
PWWP2A	114825	genome.wustl.edu	37	chr5	159520131	159520131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ctgagcgggtagaggtgcagCgagactggggcttgggtgcc	20	8	0	3			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr5:159520131C>T	ENST00000307063.7	-	2	1560	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	PWWP2A_ENST00000523662.1_Missense_Mutation_p.R509H|PWWP2A_ENST00000456329.3_Missense_Mutation_p.R509H	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	509										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGGTGCAGCGAGACTGGGG	0.512																																																	0													43	40	41					5																	159520131		1963	4156	6119	SO:0001583	missense	114825				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1526G>A	5.37:g.159520131C>T	ENSP00000305151:p.Arg509His		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	pfam_PWWP,smart_PWWP,pfscan_PWWP	p.R509H	ENST00000307063.7	37	c.1526	CCDS47332.1	5	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008659	0.54361	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.58797	2.16;1.19;0.31	5.74	4.87	0.63330	.	0.219996	0.49305	N	0.000159	T	0.43809	0.1264	L	0.27053	0.805	0.49130	D	0.999754	B;B;B	0.32800	0.342;0.385;0.385	B;B;B	0.26614	0.018;0.071;0.04	T	0.45071	-0.9286	10	0.54805	T	0.06	-1.1488	14.4852	0.67611	0.0:0.9289:0.0:0.0711	.	509;509;509	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	H	509	ENSP00000390462:R509H;ENSP00000428143:R509H;ENSP00000305151:R509H	ENSP00000305151:R509H	R	-	2	0	PWWP2A	159452709	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	5.699000	0.68310	1.561000	0.49584	0.563000	0.77884	CGC	PWWP2A	-	NULL		0.512	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1	C			159520131	-1	no_errors	ENST00000307063	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159520131	C	T	159520131	3	4	52	1	0	0	0	0	1	0	0	0	12875	768	27	2	887	2	PWWP2A	5	159520131	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	19299162	159520131	21395129	25	6981										
STK10	6793	genome.wustl.edu	37	chr5	171491807	171491807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tcgggggagcttctccacctCgttcttcacctgcagcagag	11	14	3	1	rs371455341		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr5:171491807C>T	ENST00000176763.5	-	13	2342	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	667					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTCCACCTCGTTCTTCACC	0.557																																																	0								C	LYS/GLU	0,4406		0,0,2203	136	119	124		1999	5.1	0.9	5		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	STK10	NM_005990.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	667/969	171491807	2,13004	2203	4300	6503	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1999G>A	5.37:g.171491807C>T	ENSP00000176763:p.Glu667Lys		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,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.E667K	ENST00000176763.5	37	c.1999	CCDS34290.1	5	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180416	0.57800	0.0	2.33E-4	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.35789	1.29	5.06	5.06	0.68205	.	0.404808	0.26069	N	0.026523	T	0.38188	0.1031	M	0.73217	2.22	0.30291	N	0.790414	B	0.22800	0.075	B	0.20767	0.031	T	0.41016	-0.9532	10	0.48119	T	0.1	.	11.7657	0.51928	0.0:0.822:0.178:0.0	.	667	O94804	STK10_HUMAN	K	667	ENSP00000176763:E667K	ENSP00000176763:E667K	E	-	1	0	STK10	171424412	0.979000	0.34478	0.945000	0.38365	0.949000	0.60115	2.498000	0.45363	2.338000	0.79540	0.650000	0.86243	GAG	STK10	-	pfam_PKK		0.557	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	C	NM_005990		171491807	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	missense	SNP	0.747	T	T	171491807	C	T	171491807	3	4	52	1	0	0	0	0	1	0	0	0	15316	893	31	1	935	1	STK10	5	171491807	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	11971676	171491807	9423453	26	6982										
NOTCH4	4855	genome.wustl.edu	37	chr6	32188317	32188317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gccccagccactcacacacaCgcagtgaaagctaccagcag	8	17	1	1	rs144492578	byFrequency	TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr6:32188317C>T	ENST00000375023.3	-	6	1162	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	342	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCACACACACGCAGTGAAAG	0.612													C|||	2	0.000399361	0.0015	0	5008	,	,		18417	0		0	False		,,,				2504	0																0								C	MET/VAL	3,3019		0,3,1508	102	100	101		1024	4.9	1	6	dbSNP_134	101	0,5418		0,0,2709	yes	missense	NOTCH4	NM_004557.3	21	0,3,4217	TT,TC,CC		0.0,0.0993,0.0355	probably-damaging	342/2004	32188317	3,8437	1511	2709	4220	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1024G>A	6.37:g.32188317C>T	ENSP00000364163:p.Val342Met		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.V342M	ENST00000375023.3	37	c.1024	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154163	0.78114	9.93E-4	0.0	ENSG00000204301	ENST00000375023	D	0.91894	-2.93	4.9	4.9	0.64082	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39687	N	0.001289	D	0.93779	0.8011	L	0.55103	1.725	0.80722	D	1	D;P	0.89917	1.0;0.915	D;B	0.97110	1.0;0.378	D	0.93414	0.6771	10	0.48119	T	0.1	.	15.6115	0.76721	0.0:1.0:0.0:0.0	.	342;342	Q6P3V5;Q99466	.;NOTC4_HUMAN	M	342	ENSP00000364163:V342M	ENSP00000364163:V342M	V	-	1	0	NOTCH4	32296295	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.366000	0.66122	2.539000	0.85634	0.491000	0.48974	GTG	NOTCH4	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32188317	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32188317	C	T	32188317	3	4	52	1	0	0	0	0	1	0	0	0	10575	536	19	2	5087	2	NOTCH4	6	32188317	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		32188317	138926750	27	6983										
EYS	346007	genome.wustl.edu	37	chr6	64431264	64431264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tgccatttactgtacattcaCctccatttctgcatgtgttg	6	11	2	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr6:64431264C>T	ENST00000370621.3	-	44	9252	c.8726G>A	c.(8725-8727)gGt>gAt	p.G2909D	EYS_ENST00000503581.1_Missense_Mutation_p.G2888D|EYS_ENST00000370616.2_Missense_Mutation_p.G2909D			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2909	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTACATTCACCTCCATTTCT	0.408																																																	0													124	82	95					6																	64431264		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8726G>A	6.37:g.64431264C>T	ENSP00000359655:p.Gly2909Asp		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G2909D	ENST00000370621.3	37	c.8726		6	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519177	0.44866	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.91740	-2.9;-2.9;-2.9	4.86	4.86	0.63082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000002	D	0.97087	0.9048	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98321	1.0528	10	0.87932	D	0	.	16.1831	0.81925	0.0:1.0:0.0:0.0	.	2888;2909	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	D	2888;2909;2909	ENSP00000424243:G2888D;ENSP00000359655:G2909D;ENSP00000359650:G2909D	ENSP00000359650:G2909D	G	-	2	0	EYS	64489223	1.000000	0.71417	0.100000	0.21137	0.019000	0.09904	5.086000	0.64474	2.251000	0.74343	0.655000	0.94253	GGT	EYS	-	smart_EG-like_dom,pfscan_EG-like_dom		0.408	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64431264	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.999	T	T	64431264	C	T	64431264	3	4	52	1	0	0	0	0	1	0	0	0	5344	507	18	4	775	4	EYS	6	64431264	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	32242947	64431264	106683803	28	6984										
KLRG2	346689	genome.wustl.edu	37	chr7	139164445	139164445	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tggctggcttcccaggcctgCgcttctgcagagaagtagta	13	11	1	1	rs201132743		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr7:139164445C>A	ENST00000340940.4	-	3	1002	c.933G>T	c.(931-933)gcG>gcT	p.A311A	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	311	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCCAGGCCTGCGCTTCTGCAG	0.617																																																	0													66	64	65					7																	139164445		2203	4300	6503	SO:0001819	synonymous_variant	346689			AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.933G>T	7.37:g.139164445C>A			Q2NL79|Q6ZTV6	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A311	ENST00000340940.4	37	c.933	CCDS5854.1	7																																																																																			KLRG2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.617	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRG2	HGNC	protein_coding	OTTHUMT00000349433.1	C	NM_198508		139164445	-1	no_errors	ENST00000340940	ensembl	human	known	70_37	silent	SNP	0.000	A	A	139164445	C	A	139164445	2	1	52	1	0	0	0	0	0	0	0	1	8442	755	27	2		2	KLRG2	7	139164445	Silent	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		139164445	19974218	29	6985										
DERL1	79139	genome.wustl.edu	37	chr8	124033739	124033739	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	aacccagggtaaatagcaggCctaggatggaatgaatatat	11	6	0	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr8:124033739C>T	ENST00000259512.4	-	6	754	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Splice_Site_p.A152T|DERL1_ENST00000419562.2_Splice_Site_p.A52T|DERL1_ENST00000519018.1_Splice_Site_p.A52T|DERL1_ENST00000523036.1_Splice_Site_p.A52T	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	152					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATAGCAGGCCTAGGATGGA	0.413																																																	0													96	99	98					8																	124033739		2203	4300	6503	SO:0001630	splice_region_variant	79139			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.454-1G>A	8.37:g.124033739C>T			B3KW41|E9PH19	Missense_Mutation	SNP	pfam_DER1	p.A152T	ENST00000259512.4	37	c.454	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.701244	0.96812	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;0.986;0.999	D;P;D	0.97110	1.0;0.798;0.996	T	0.77830	-0.2442	10	0.66056	D	0.02	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	52;152;152	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	T	152;152;52;52;52	ENSP00000259512:A152T;ENSP00000384289:A152T;ENSP00000389965:A52T;ENSP00000430086:A52T;ENSP00000429199:A52T	ENSP00000259512:A152T	A	-	1	0	DERL1	124102920	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.377000	0.79668	2.689000	0.91719	0.655000	0.94253	GCC	DERL1	-	pfam_DER1		0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	C	NM_024295	Missense_Mutation	124033739	-1	no_errors	ENST00000259512	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124033739	C	T	124033739	5	4	52	1	0	0	0	0	0	0	1	0	4456	753	26	4	313	4	DERL1	8	124033739	Splice_Site	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		124033739	22330283	30	6986										
MYC	4609	genome.wustl.edu	37	chr8	128750880	128750880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gacccggacgacgagaccttCatcaaaaacatcatcatcca	6	14	4	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr8:128750880C>T	ENST00000259523.6	+	2	1577	c.372C>T	c.(370-372)ttC>ttT	p.F124F	MYC_ENST00000524013.1_Silent_p.F138F|MYC_ENST00000377970.2_Silent_p.F139F			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	124					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACGAGACCTTCATCAAAAACA	0.597		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0													70	71	70					8																	128750880		2203	4300	6503	SO:0001819	synonymous_variant	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.372C>T	8.37:g.128750880C>T		1567	A8WFE7|P01107|Q14026	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc	p.F139	ENST00000259523.6	37	c.417		8																																																																																			MYC	-	pfam_Tscrpt_reg_Myc_N		0.597	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250278.1	C			128750880	1	no_errors	ENST00000377970	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128750880	C	T	128750880	2	4	52	1	0	0	0	0	0	0	0	1	10039	825	29	1		1	MYC	8	128750880	Silent	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	4717141	128750880	17613142	31	6987										
TRPM3	80036	genome.wustl.edu	37	chr9	73151768	73151768	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gtctatatcacagtggagctCatccatagcagagacataga	9	9	3	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr9:73151768C>T	ENST00000377110.3	-	25	4468	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	TRPM3_ENST00000396292.4_Missense_Mutation_p.E1281K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1268K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1258K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1268K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1268K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1281K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1413K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1271K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1271K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1436K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1434					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGTGGAGCTCATCCATAGCA	0.512																																																	0													111	106	108					9																	73151768		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4225G>A	9.37:g.73151768C>T	ENSP00000366314:p.Glu1409Lys		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1436K	ENST00000377110.3	37	c.4306	CCDS43835.1	9	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574555	0.65878	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.60548	0.29;0.2;0.2;0.18;0.29;0.18;0.19;0.2;0.2;0.28	6.02	6.02	0.97574	.	0.166180	0.52532	D	0.000067	T	0.47451	0.1446	L	0.27053	0.805	0.47584	D	0.999467	P;B;B;P;B;P;P	0.37330	0.59;0.112;0.421;0.455;0.22;0.59;0.455	B;B;B;B;B;B;B	0.36378	0.223;0.029;0.118;0.111;0.062;0.223;0.111	T	0.33059	-0.9883	10	0.16896	T	0.51	-19.5519	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1409;1399;1413;1271;1268;1381;1268	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	K	1409;1281;1271;1268;1413;1268;1268;1281;1271;1436	ENSP00000366314:E1409K;ENSP00000366310:E1281K;ENSP00000354066:E1271K;ENSP00000366309:E1268K;ENSP00000350140:E1413K;ENSP00000386127:E1268K;ENSP00000379581:E1268K;ENSP00000379587:E1281K;ENSP00000350791:E1271K;ENSP00000389542:E1436K	ENSP00000350140:E1413K	E	-	1	0	TRPM3	72341588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.865000	0.98341	0.655000	0.94253	GAG	TRPM3	-	NULL		0.512	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	C	NM_206945		73151768	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73151768	C	T	73151768	3	4	52	1	0	0	0	0	1	0	0	0	16618	835	29	1	902	1	TRPM3	9	73151768	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		73151768	68061663	32	6988										
TRAF1	7185	genome.wustl.edu	37	chr9	123676541	123676541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	agcagccgacacctgcaaagGggcacccaattccagcctca	9	16	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr9:123676541G>A	ENST00000373887.3	-	4	2711	c.266C>T	c.(265-267)cCc>cTc	p.P89L	TRAF1_ENST00000546084.1_5'UTR|TRAF1_ENST00000540010.1_Missense_Mutation_p.P89L	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	89					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACCTGCAAAGGGGCACCCAAT	0.542																																																	0													67	66	67					9																	123676541		2203	4300	6503	SO:0001583	missense	7185			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.266C>T	9.37:g.123676541G>A	ENSP00000362994:p.Pro89Leu		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.P89L	ENST00000373887.3	37	c.266	CCDS6825.1	9	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247753	0.39697	.	.	ENSG00000056558	ENST00000373887;ENST00000540010	T;T	0.33865	1.39;1.39	5.47	5.47	0.80525	.	0.337468	0.25708	N	0.028833	T	0.36880	0.0983	M	0.65498	2.005	0.80722	D	1	B	0.31581	0.329	B	0.25987	0.065	T	0.15549	-1.0433	10	0.35671	T	0.21	-21.1032	14.7972	0.69886	0.0:0.0:1.0:0.0	.	89	Q13077	TRAF1_HUMAN	L	89	ENSP00000362994:P89L;ENSP00000443183:P89L	ENSP00000362994:P89L	P	-	2	0	TRAF1	122716362	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	2.189000	0.42621	2.557000	0.86248	0.591000	0.81541	CCC	TRAF1	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF		0.542	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	HGNC	protein_coding	OTTHUMT00000053843.1	G	NM_005658		123676541	-1	no_errors	ENST00000373887	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123676541	G	A	123676541	3	1	52	1	0	0	0	0	1	0	0	0	16468	1232	43	4	1004	4	TRAF1	9	123676541	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	50524773	123676541	17536890	33	6989										
NDUFA8	4702	genome.wustl.edu	37	chr9	124906636	124906636	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gggattctccggtaaaggtcGatctgttttcactttggtga	12	7	3	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr9:124906636G>A	ENST00000373768.3	-	4	544	c.403C>T	c.(403-405)Cga>Tga	p.R135*	NDUFA8_ENST00000537618.1_Intron	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	135					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						GGTAAAGGTCGATCTGTTTTC	0.527																																																	0													138	113	121					9																	124906636		2203	4300	6503	SO:0001587	stop_gained	4702			AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"Mitochondrial respiratory chain complex / Complex I"	7692	protein-coding gene	gene with protein product	"complex I PGIV subunit"	603359	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.403C>T	9.37:g.124906636G>A	ENSP00000362873:p.Arg135*		B1AM93|Q9Y6N0	Nonsense_Mutation	SNP	pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8	p.R135*	ENST00000373768.3	37	c.403	CCDS6835.1	9	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807963	0.90707	.	.	ENSG00000119421	ENST00000373768	.	.	.	5.81	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3294	11.6269	0.51151	0.0:0.0:0.6766:0.3234	.	.	.	.	X	135	.	ENSP00000362873:R135X	R	-	1	2	NDUFA8	123946457	0.993000	0.37304	1.000000	0.80357	0.878000	0.50629	2.240000	0.43088	1.403000	0.46800	0.655000	0.94253	CGA	NDUFA8	-	pirsf_NADH_Ub_cplx-1_asu_su-8		0.527	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA8	HGNC	protein_coding	OTTHUMT00000053909.1	G	NM_014222		124906636	-1	no_errors	ENST00000373768	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	124906636	G	A	124906636	4	1	52	1	0	0	0	0	0	1	0	0	10295	1066	37	1	119	1	NDUFA8	9	124906636	Nonsense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	1230095	124906636	16306795	34	6990										
STXBP1	6812	genome.wustl.edu	37	chr9	130427590	130427590	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	agctcgatgcctataaagctGatgatccaacaatgggggag	12	8	0	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr9:130427590G>A	ENST00000373299.1	+	8	758	c.643G>A	c.(643-645)Gat>Aat	p.D215N	STXBP1_ENST00000373302.3_Missense_Mutation_p.D215N	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	215					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CTATAAAGCTGATGATCCAAC	0.522																																																	0													193	153	166					9																	130427590		2203	4300	6503	SO:0001583	missense	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.643G>A	9.37:g.130427590G>A	ENSP00000362396:p.Asp215Asn		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D215N	ENST00000373299.1	37	c.643	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.203565	0.95033	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.76839	-1.05;-1.05	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	D	0.89690	0.3897	10	0.72032	D	0.01	-24.9836	16.5471	0.84449	0.0:0.0:1.0:0.0	.	215;215	P61764;P61764-2	STXB1_HUMAN;.	N	169;215;215	ENSP00000362399:D215N;ENSP00000362396:D215N	ENSP00000362396:D215N	D	+	1	0	STXBP1	129467411	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	9.200000	0.95010	2.510000	0.84645	0.561000	0.74099	GAT	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.522	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	G	NM_003165		130427590	1	no_errors	ENST00000373299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130427590	G	A	130427590	3	1	52	1	0	0	0	0	1	0	0	0	15382	1290	45	1	673	1	STXBP1	9	130427590	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	5520954	130427590	10785841	35	6991										
PCDH15	65217	genome.wustl.edu	37	chr10	55581942	55581942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gcaggcatcaagttggtcgtGcatttaacacctgttataca	9	9	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr10:55581942G>A	ENST00000320301.6	-	33	5938	c.5544C>T	c.(5542-5544)tgC>tgT	p.C1848C	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Silent_p.C1850C|PCDH15_ENST00000437009.1_Silent_p.C1779C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.C1808C|PCDH15_ENST00000395430.1_Silent_p.C1845C|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.C1825C|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1848					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTTGGTCGTGCATTTAACAC	0.468										HNSCC(58;0.16)																																							0													182	170	174					10																	55581942		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5544C>T	10.37:g.55581942G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C1848	ENST00000320301.6	37	c.5544	CCDS7248.1	10																																																																																			PCDH15	-	NULL		0.468	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55581942	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	silent	SNP	0.005	A	A	55581942	G	A	55581942	2	1	52	1	0	0	0	0	0	0	0	1	11535	1311	46	4		4	PCDH15	10	55581942	Silent	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		55581942	79952805	36	6992										
GPR120	338557	genome.wustl.edu	37	chr10	95326827	95326827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ctgccacctgctcttctacgTgatgaccctgagcggcagcg	11	15	2	3			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr10:95326827T>G	ENST00000371483.4	+	1	406	c.350T>G	c.(349-351)gTg>gGg	p.V117G	FFAR4_ENST00000604414.1_Missense_Mutation_p.V117G|FFAR4_ENST00000371481.4_Missense_Mutation_p.V117G	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	117					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTCTTCTACGTGATGACCCTG	0.682																																																	0													35	34	34					10																	95326827		2202	4298	6500	SO:0001583	missense	338557				CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.350T>G	10.37:g.95326827T>G	ENSP00000360538:p.Val117Gly		Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V117G	ENST00000371483.4	37	c.350	CCDS31248.1	10	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027776	0.54790	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.39229	1.09;1.09	5.22	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.773311	0.11908	N	0.517943	T	0.42359	0.1199	L	0.55213	1.73	0.47905	D	0.999541	B;B	0.28419	0.003;0.211	B;B	0.32533	0.004;0.147	T	0.44452	-0.9327	10	0.87932	D	0	-2.7603	12.1452	0.54020	0.0:0.0:0.2692:0.7308	.	117;117	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	G	117	ENSP00000360536:V117G;ENSP00000360538:V117G	ENSP00000360536:V117G	V	+	2	0	O3FAR1	95316817	0.992000	0.36948	0.992000	0.48379	0.967000	0.64934	1.973000	0.40550	0.968000	0.38212	0.459000	0.35465	GTG	O3FAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.682	FFAR4-002	KNOWN	basic|CCDS	protein_coding	O3FAR1	HGNC	protein_coding	OTTHUMT00000083179.1	T	NM_181745		95326827	1	no_errors	ENST00000371483	ensembl	human	known	70_37	missense	SNP	0.986	G	G	95326827	T	G	95326827	3	3	52	1	0	0	0	0	1	0	0	0	6655	1696	59	5	352	5	GPR120	10	95326827	Missense_Mutation	SNP	T	TCGA-DG-A2KH-01A-21D-A22X-09	39744885	95326827	40207920	37	6993										
PSD	5662	genome.wustl.edu	37	chr10	104176486	104176486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	actggccttctccacaaagcGgaagatgaccacagagctct	9	13	2	3			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr10:104176486G>A	ENST00000020673.5	-	2	836	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.R104C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	104	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCACAAAGCGGAAGATGACC	0.672																																																	0													34	42	39					10																	104176486		2203	4299	6502	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.310C>T	10.37:g.104176486G>A	ENSP00000020673:p.Arg104Cys		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.R104C	ENST00000020673.5	37	c.310	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775895	0.70107	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.28454	1.61;1.61	5.08	5.08	0.68730	.	0.082887	0.47852	D	0.000213	T	0.31513	0.0799	N	0.08118	0	0.42656	D	0.993461	D	0.89917	1.0	P	0.61722	0.893	T	0.35525	-0.9785	10	0.87932	D	0	.	13.1201	0.59321	0.0:0.0:0.8398:0.1602	.	104	A5PKW4	PSD1_HUMAN	C	104	ENSP00000020673:R104C;ENSP00000384830:R104C	ENSP00000020673:R104C	R	-	1	0	PSD	104166476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.782000	0.62396	2.375000	0.81037	0.561000	0.74099	CGC	PSD	-	NULL		0.672	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104176486	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104176486	G	A	104176486	3	1	52	1	0	0	0	0	1	0	0	0	12673	1116	39	2	2828	2	PSD	10	104176486	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	8849659	104176486	31358261	38	6994										
PGAP2	27315	genome.wustl.edu	37	chr11	3846311	3846311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	caacttcatctccttcttctCggcgctggctgtctactttc	6	15	5	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:3846311C>T	ENST00000463452.2	+	5	670	c.587C>T	c.(586-588)tCg>tTg	p.S196L	PGAP2_ENST00000493547.2_Silent_p.L220L|PGAP2_ENST00000396991.2_Missense_Mutation_p.S257L|PGAP2_ENST00000479072.1_Missense_Mutation_p.S36L|PGAP2_ENST00000278243.4_Missense_Mutation_p.S257L|PGAP2_ENST00000300730.6_Missense_Mutation_p.S249L|PGAP2_ENST00000396993.4_Silent_p.L149L|PGAP2_ENST00000465307.2_Silent_p.L199L|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000496834.2_Missense_Mutation_p.S40L|PGAP2_ENST00000396986.2_Missense_Mutation_p.S253L	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	196					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.S257L(1)|p.S249L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TCCTTCTTCTCGGCGCTGGCT	0.552											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	endometrium(2)											166	145	152					11																	3846311		2201	4298	6499	SO:0001583	missense	27315			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.587C>T	11.37:g.3846311C>T	ENSP00000435223:p.Ser196Leu	614	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.S257L	ENST00000463452.2	37	c.770	CCDS58112.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.549835|1.549835	0.27652|0.27652	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000464906;ENST00000464441|ENST00000396986;ENST00000300730;ENST00000396991;ENST00000278243;ENST00000463452;ENST00000479072;ENST00000496834;ENST00000469307	.|T;T;T;T;T;T;T;T	.|0.38722	.|1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.31|5.31	4.33|4.33	0.51752|0.51752	.|.	.|0.735145	.|0.13477	.|N	.|0.385017	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.08118|0.08118	0|0	0.28474|0.28474	N|N	0.915278|0.915278	.|B;B;B;B;B	.|0.13145	.|0.007;0.001;0.0;0.004;0.001	.|B;B;B;B;B	.|0.10450	.|0.004;0.001;0.005;0.003;0.001	T|T	0.17501|0.17501	-1.0367|-1.0367	5|10	.|0.08599	.|T	.|0.76	-4.0545|-4.0545	8.0241|8.0241	0.30427|0.30427	0.0:0.8896:0.0:0.1104|0.0:0.8896:0.0:0.1104	.|.	.|253;192;40;257;196	.|A8MYS5;Q9UHJ9-3;E9PPF7;Q9UHJ9;Q9UHJ9-2	.|.;.;.;PGAP2_HUMAN;.	W|L	287;68|253;249;257;257;196;36;40;192	.|ENSP00000380183:S253L;ENSP00000300730:S249L;ENSP00000380188:S257L;ENSP00000278243:S257L;ENSP00000435223:S196L;ENSP00000435338:S36L;ENSP00000432721:S40L;ENSP00000434507:S192L	.|ENSP00000278243:S257L	R|S	+|+	1|2	2|0	PGAP2|PGAP2	3802887|3802887	0.021000|0.021000	0.18746|0.18746	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.445000|2.445000	0.44899|0.44899	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	CGG|TCG	PGAP2	-	pfam_Frag1/DRAM/Sfk1		0.552	PGAP2-049	KNOWN	basic|CCDS	protein_coding	PGAP2	HGNC	protein_coding	OTTHUMT00000383260.1	C			3846311	1	no_errors	ENST00000278243	ensembl	human	known	70_37	missense	SNP	0.991	T	T	3846311	C	T	3846311	3	4	52	1	0	0	0	0	1	0	0	0	11802	893	31	1	967	1	PGAP2	11	3846311	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		3846311	131160205	39	6995										
PRKCDBP	112464	genome.wustl.edu	37	chr11	6341326	6341326	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cgtttgaggtcactgaccttGaagagcagaacgtggagctt	13	8	1	5			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:6341326G>C	ENST00000303927.3	-	1	551	c.381C>G	c.(379-381)ttC>ttG	p.F127L	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.F127L	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	127					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTGACCTTGAAGAGCAGAA	0.692																																																	0													11	11	11					11																	6341326		2168	4244	6412	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.381C>G	11.37:g.6341326G>C	ENSP00000307292:p.Phe127Leu			Missense_Mutation	SNP	NULL	p.F127L	ENST00000303927.3	37	c.381	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620221	0.66787	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.63255	-0.03;-0.03	5.53	2.64	0.31445	.	0.178535	0.49305	D	0.000151	T	0.56202	0.1969	M	0.71036	2.16	0.50313	D	0.999864	P	0.37731	0.607	B	0.34652	0.187	T	0.54938	-0.8218	10	0.66056	D	0.02	-9.248	7.9498	0.30008	0.2522:0.0:0.7478:0.0	.	127	Q969G5	PRDBP_HUMAN	L	127	ENSP00000307292:F127L;ENSP00000432047:F127L	ENSP00000307292:F127L	F	-	3	2	PRKCDBP	6297902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.673000	0.37534	0.300000	0.22699	0.609000	0.83330	TTC	PRKCDBP	-	NULL		0.692	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	G	NM_145040		6341326	-1	no_errors	ENST00000303927	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6341326	G	C	6341326	3	2	52	1	0	0	0	0	1	0	0	0	12537	1281	45	1	412	1	PRKCDBP	11	6341326	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	2495015	6341326	128665190	40	6996										
WT1	7490	genome.wustl.edu	37	chr11	32456360	32456360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cggaggaggaccgaagggccCgtagcgacaggctccggctg	18	12	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:32456360C>T	ENST00000332351.3	-	1	816	c.532G>A	c.(532-534)Ggg>Agg	p.G178R	WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.G178R	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	110					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCGAAGGGCCCGTAGCGACAG	0.697			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0													19	20	19					11																	32456360		2197	4295	6492	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.532G>A	11.37:g.32456360C>T	ENSP00000331327:p.Gly178Arg		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.G178R	ENST00000332351.3	37	c.532	CCDS7878.2	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188474	0.78789	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.91577	-2.87;-2.87;-2.87	3.24	2.27	0.28462	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.64402	U	0.000002	D	0.92792	0.7708	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	1.0;0.934;0.944	D	0.92008	0.5616	10	0.87932	D	0	.	10.6893	0.45862	0.0:0.8053:0.1947:0.0	.	183;110;183	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	R	178	ENSP00000331327:G178R;ENSP00000415516:G178R;ENSP00000413452:G178R	ENSP00000331327:G178R	G	-	1	0	WT1	32412936	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	5.545000	0.67237	0.635000	0.30488	0.462000	0.41574	GGG	WT1	-	pfam_Wilms_tumour_N		0.697	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095436.2	C	NM_000378		32456360	-1	no_errors	ENST00000332351	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32456360	C	T	32456360	3	4	52	1	0	0	0	0	1	0	0	0	17439	652	23	2	1061	2	WT1	11	32456360	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	26115034	32456360	102550156	41	6997										
PCSK7	9159	genome.wustl.edu	37	chr11	117098005	117098005	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gtggggcatggggtcagggtCattagagttgaggtcatagc	18	5	3	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:117098005C>G	ENST00000320934.3	-	5	1267	c.637G>C	c.(637-639)Gac>Cac	p.D213H		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	213	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTCAGGGTCATTAGAGTTG	0.557			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													107	107	107					11																	117098005		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.637G>C	11.37:g.117098005C>G	ENSP00000325917:p.Asp213His		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D213H	ENST00000320934.3	37	c.637	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.104247	0.94245	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.89050	-2.46;-2.46	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95866	0.8887	10	0.72032	D	0.01	-34.8218	18.6171	0.91306	0.0:1.0:0.0:0.0	.	213	Q16549	PCSK7_HUMAN	H	213	ENSP00000325917:D213H;ENSP00000431181:D213H	ENSP00000325917:D213H	D	-	1	0	PCSK7	116603215	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.818000	0.86416	2.633000	0.89246	0.655000	0.94253	GAC	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.557	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	C	NM_004716		117098005	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117098005	C	G	117098005	3	3	52	1	0	0	0	0	1	0	0	0	11629	826	29	1	1772	1	PCSK7	11	117098005	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	84641645	117098005	17908511	42	6998			1	35		3	3	2424	N	G_C	1.410797e-05
PCSK7	9159	genome.wustl.edu	37	chr11	117098017	117098017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gtcagggtcattagagttgaGgtcatagctaccctcagggc	13	9	4	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:117098017G>A	ENST00000320934.3	-	5	1255	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	209	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TTAGAGTTGAGGTCATAGCTA	0.547			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													101	102	102					11																	117098017		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.625C>T	11.37:g.117098017G>A	ENSP00000325917:p.Leu209Phe		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.L209F	ENST00000320934.3	37	c.625	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302038	0.23736	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.86562	-2.14;-2.14	5.61	4.7	0.59300	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	D	0.000001	T	0.81861	0.4912	N	0.13198	0.31	0.80722	D	1	P	0.48834	0.916	P	0.52646	0.705	T	0.82639	-0.0358	10	0.87932	D	0	-24.8118	7.3102	0.26471	0.2587:0.0:0.7413:0.0	.	209	Q16549	PCSK7_HUMAN	F	209	ENSP00000325917:L209F;ENSP00000431181:L209F	ENSP00000325917:L209F	L	-	1	0	PCSK7	116603227	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.755000	0.47540	1.370000	0.46153	0.655000	0.94253	CTC	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.547	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	G	NM_004716		117098017	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117098017	G	A	117098017	3	1	52	1	0	0	0	0	1	0	0	0	11629	1000	35	4	1784	4	PCSK7	11	117098017	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	12	117098017	17908499	43	6999			1	35		3	3	2424	N	G_C	1.410797e-05
PCSK7	9159	genome.wustl.edu	37	chr11	117100428	117100428	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cccccctgtgccctggccatCaggcccacctgtccctgcca	8	22	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:117100428C>G	ENST00000320934.3	-	3	763	c.133G>C	c.(133-135)Gat>Cat	p.D45H		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	45					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCCTGGCCATCAGGCCCACCT	0.672			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													25	29	27					11																	117100428		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.133G>C	11.37:g.117100428C>G	ENSP00000325917:p.Asp45His		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D45H	ENST00000320934.3	37	c.133	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	2.866	-0.235057	0.05983	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027;ENST00000524507;ENST00000532301;ENST00000530269	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.21	-1.07	0.09968	.	1.670430	0.03180	N	0.171962	T	0.32376	0.0827	N	0.22421	0.69	0.09310	N	1	B	0.25955	0.138	B	0.21917	0.037	T	0.19778	-1.0295	10	0.42905	T	0.14	-0.0234	5.2043	0.15283	0.0:0.5272:0.1411:0.3317	.	45	Q16549	PCSK7_HUMAN	H	45	ENSP00000325917:D45H;ENSP00000431181:D45H;ENSP00000433841:D45H;ENSP00000436459:D45H;ENSP00000433252:D45H	ENSP00000325917:D45H	D	-	1	0	PCSK7	116605638	0.000000	0.05858	0.002000	0.10522	0.208000	0.24298	-0.047000	0.11963	-0.124000	0.11724	-0.467000	0.05162	GAT	PCSK7	-	NULL		0.672	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	C	NM_004716		117100428	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	0.003	G	G	117100428	C	G	117100428	3	3	52	1	0	0	0	0	1	0	0	0	11629	826	29	1	2284	1	PCSK7	11	117100428	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	2411	117100428	17906088	44	7000			1	35		3	3	2424	N	G_C	1.410797e-05
SNX19	399979	genome.wustl.edu	37	chr11	130775929	130775929	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	acgtcctttgggaggttgttCaggatctttttctggggctt	13	7	3	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr11:130775929C>T	ENST00000265909.4	-	7	2931	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	SNX19_ENST00000534726.1_Missense_Mutation_p.E28K|SNX19_ENST00000545537.1_Missense_Mutation_p.E28K|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.E231K|SNX19_ENST00000533214.1_Missense_Mutation_p.E771K|SNX19_ENST00000528555.1_Missense_Mutation_p.E168K|SNX19_ENST00000530356.1_Missense_Mutation_p.E168K	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	788					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGAGGTTGTTCAGGATCTTTT	0.507																																																	0													149	130	137					11																	130775929		2201	4297	6498	SO:0001583	missense	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2362G>A	11.37:g.130775929C>T	ENSP00000265909:p.Glu788Lys		E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.E788K	ENST00000265909.4	37	c.2362	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682320	0.29872	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.39	2.27	0.28462	.	0.852378	0.10920	N	0.619521	T	0.36220	0.0959	L	0.60455	1.87	0.09310	N	1	B;B;B	0.28584	0.216;0.164;0.037	B;B;B	0.23852	0.049;0.027;0.025	T	0.31251	-0.9950	10	0.08599	T	0.76	-0.0087	5.7805	0.18304	0.0:0.5069:0.3149:0.1782	.	231;771;788	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	K	788;28;28;168;168;231;771	ENSP00000265909:E788K;ENSP00000433699:E28K;ENSP00000437982:E28K;ENSP00000435122:E168K;ENSP00000432307:E168K;ENSP00000443480:E231K;ENSP00000435390:E771K	ENSP00000265909:E788K	E	-	1	0	SNX19	130281139	0.000000	0.05858	0.001000	0.08648	0.542000	0.35054	0.131000	0.15870	0.177000	0.19895	0.655000	0.94253	GAA	SNX19	-	NULL		0.507	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	C	NM_014758		130775929	-1	no_errors	ENST00000265909	ensembl	human	known	70_37	missense	SNP	0.001	T	T	130775929	C	T	130775929	3	4	52	1	0	0	0	0	1	0	0	0	14920	835	29	1	636	1	SNX19	11	130775929	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	13675501	130775929	4230587	45	7001										
BCDIN3D	144233	genome.wustl.edu	37	chr12	50236730	50236730	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	agctccgggggcaggaggcgGagccgttgctccggagggtg	21	10	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr12:50236730G>A	ENST00000333924.4	-	1	182	c.141C>T	c.(139-141)ctC>ctT	p.L47L	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	47					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GCAGGAGGCGGAGCCGTTGCT	0.632																																																	0													56	67	63					12																	50236730		2203	4300	6503	SO:0001819	synonymous_variant	144233				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.141C>T	12.37:g.50236730G>A			A8K829	Missense_Mutation	SNP	NULL	p.S40F	ENST00000333924.4	37	c.119	CCDS8790.1	12	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421718	0.43020	.	.	ENSG00000186666	ENST00000550861	.	.	.	6.08	1.63	0.23807	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.25286	N	0.989398	.	.	.	.	.	.	T	0.37686	-0.9695	5	0.87932	D	0	.	7.5654	0.27876	0.2307:0.127:0.6423:0.0	.	.	.	.	F	40	.	ENSP00000447796:S40F	S	-	2	0	BCDIN3D	48522997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.118000	0.41949	0.427000	0.26145	0.591000	0.81541	TCC	BCDIN3D	-	NULL		0.632	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	G	NM_181708		50236730	-1	no_errors	ENST00000550861	ensembl	human	putative	70_37	missense	SNP	0.998	A	A	50236730	G	A	50236730	2	1	52	1	0	0	0	0	0	0	0	1	1358	1161	41	1		1	BCDIN3D	12	50236730	Silent	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		50236730	83615165	46	7002										
PAWR	5074	genome.wustl.edu	37	chr12	80083663	80083663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cctcgtcacgctggggcggcGgtgcagccgaggcagaggcg	19	13	1	1	rs377609790	byFrequency	TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr12:80083663G>A	ENST00000328827.4	-	2	734	c.362C>T	c.(361-363)cCg>cTg	p.P121L	PAWR_ENST00000547571.1_5'UTR|RP11-530C5.1_ENST00000551995.1_lincRNA	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	121					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTGGGGCGGCGGTGCAGCCGA	0.746																																																	0													5	5	5					12																	80083663		2132	4196	6328	SO:0001583	missense	5074			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.362C>T	12.37:g.80083663G>A	ENSP00000328088:p.Pro121Leu		O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	NULL	p.P121L	ENST00000328827.4	37	c.362	CCDS31863.1	12	.	.	.	.	.	.	.	.	.	.	G	7.973	0.749490	0.15778	.	.	ENSG00000177425	ENST00000328827	T	0.20200	2.09	2.98	0.859	0.19036	.	0.572937	0.18139	N	0.150462	T	0.13841	0.0335	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.22208	-1.0223	9	.	.	.	-2.3605	6.4531	0.21914	0.1128:0.0:0.7099:0.1772	.	121	Q96IZ0	PAWR_HUMAN	L	121	ENSP00000328088:P121L	.	P	-	2	0	PAWR	78607794	0.029000	0.19370	0.001000	0.08648	0.071000	0.16799	1.196000	0.32198	0.562000	0.29204	-0.448000	0.05591	CCG	PAWR	-	NULL		0.746	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAWR	HGNC	protein_coding	OTTHUMT00000407175.1	G	NM_002583		80083663	-1	no_errors	ENST00000328827	ensembl	human	known	70_37	missense	SNP	0.001	A	A	80083663	G	A	80083663	3	1	52	1	0	0	0	0	1	0	0	0	11501	1116	39	2	684	2	PAWR	12	80083663	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	29846933	80083663	53768232	47	7003										
DNAH10	196385	genome.wustl.edu	37	chr12	124345682	124345682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gtgttgtcaaacatcttcagGgaaatcaacaagccaacaga	8	9	4	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr12:124345682G>T	ENST00000409039.3	+	38	6544	c.6519G>T	c.(6517-6519)agG>agT	p.R2173S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2173	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACATCTTCAGGGAAATCAACA	0.453																																																	0													59	57	58					12																	124345682		1881	4118	5999	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6519G>T	12.37:g.124345682G>T	ENSP00000386770:p.Arg2173Ser		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.R2173S	ENST00000409039.3	37	c.6519	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254427	0.80135	.	.	ENSG00000197653	ENST00000409039	D	0.93953	-3.32	5.7	4.81	0.61882	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.169589	0.37136	U	0.002224	D	0.97816	0.9283	H	0.96943	3.91	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.98888	1.0772	10	0.87932	D	0	.	14.532	0.67934	0.0703:0.0:0.9297:0.0	.	2173	Q8IVF4	DYH10_HUMAN	S	2173	ENSP00000386770:R2173S	ENSP00000386770:R2173S	R	+	3	2	DNAH10	122911635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.787000	0.38704	1.421000	0.47157	0.655000	0.94253	AGG	DNAH10	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124345682	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124345682	G	T	124345682	3	4	52	1	0	0	0	0	1	0	0	0	4608	1223	43	4	6669	4	DNAH10	12	124345682	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	44262019	124345682	9506213	48	7004										
SERPINA10	51156	genome.wustl.edu	37	chr14	94756352	94756352	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tgtgaggcattgcgaaaattCataggcacgcactctgtatc	10	9	2	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr14:94756352C>T	ENST00000393096.1	-	2	1044	c.579G>A	c.(577-579)atG>atA	p.M193I	SERPINA10_ENST00000554723.1_Missense_Mutation_p.M233I|SERPINA10_ENST00000554173.1_Missense_Mutation_p.M193I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.M193I	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	193					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGCGAAAATTCATAGGCACGC	0.403																																																	0													91	93	92					14																	94756352		2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.579G>A	14.37:g.94756352C>T	ENSP00000376809:p.Met193Ile		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M193I	ENST00000393096.1	37	c.579	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	1.726	-0.495381	0.04291	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.59	0.832	0.18867	Serpin domain (3);	0.864377	0.10145	N	0.710393	T	0.52549	0.1741	N	0.00621	-1.32	0.09310	N	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.45629	-0.9248	10	0.25751	T	0.34	.	5.5866	0.17277	0.0:0.4866:0.1304:0.3829	.	193	Q9UK55	ZPI_HUMAN	I	233;193;193;193	ENSP00000450896:M233I;ENSP00000376809:M193I;ENSP00000261994:M193I;ENSP00000450971:M193I	ENSP00000261994:M193I	M	-	3	0	SERPINA10	93826105	0.095000	0.21747	0.002000	0.10522	0.159000	0.22180	0.043000	0.13971	-0.139000	0.11414	0.313000	0.20887	ATG	SERPINA10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.403	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	C	NM_016186		94756352	-1	no_errors	ENST00000261994	ensembl	human	known	70_37	missense	SNP	0.174	T	T	94756352	C	T	94756352	3	4	52	1	0	0	0	0	1	0	0	0	14117	826	29	1	771	1	SERPINA10	14	94756352	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		94756352	12593188	49	7005										
AHNAK2	113146	genome.wustl.edu	37	chr14	105417627	105417627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	acgtccaattggccagcctgGagctccaggtcagtggaagg	14	11	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr14:105417627G>A	ENST00000333244.5	-	7	4280	c.4161C>T	c.(4159-4161)ctC>ctT	p.L1387L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1387						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCAGCCTGGAGCTCCAGGT	0.642																																																	0													74	59	65					14																	105417627		1761	2805	4566	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4161C>T	14.37:g.105417627G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1387	ENST00000333244.5	37	c.4161	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105417627	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.003	A	A	105417627	G	A	105417627	2	1	52	1	0	0	0	0	0	0	0	1	415	1161	41	1		1	AHNAK2	14	105417627	Silent	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	10661275	105417627	1931913	50	7006										
USP8	9101	genome.wustl.edu	37	chr15	50785054	50785054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	atattgcagtgcctatgtaaCgctccacatttggctgatta	8	9	0	1	rs199814360		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr15:50785054C>T	ENST00000396444.3	+	15	2729	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	USP8_ENST00000425032.3_Silent_p.N691N|USP8_ENST00000307179.4_Silent_p.N797N|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Silent_p.N797N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	797	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCCTATGTAACGCTCCACATT	0.363																																																	0													105	96	99					15																	50785054		2196	4293	6489	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2391C>T	15.37:g.50785054C>T			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.N797	ENST00000396444.3	37	c.2391	CCDS10137.1	15																																																																																			USP8	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	C	NM_005154		50785054	1	no_errors	ENST00000307179	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50785054	C	T	50785054	2	4	52	1	0	0	0	0	0	0	0	1	17120	535	19	2		2	USP8	15	50785054	Silent	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		50785054	51746338	51	7007										
PDCD7	10081	genome.wustl.edu	37	chr15	65411147	65411147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gaagttgcctttgggatgatCggatggcaccaggtactgat	14	7	0	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr15:65411147C>T	ENST00000204549.4	-	5	1420	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	456					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TTGGGATGATCGGATGGCACC	0.438																																																	0													86	77	80					15																	65411147		2202	4299	6501	SO:0001583	missense	10081			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1366G>A	15.37:g.65411147C>T	ENSP00000204549:p.Asp456Asn		Q96AK8|Q9Y6D7	Missense_Mutation	SNP	NULL	p.D456N	ENST00000204549.4	37	c.1366	CCDS10201.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620862	0.87460	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	6.17	5.24	0.73138	.	0.076508	0.50627	D	0.000110	T	0.46249	0.1383	L	0.46157	1.445	0.41661	D	0.989183	P	0.37233	0.588	B	0.26614	0.071	T	0.43212	-0.9405	9	0.25751	T	0.34	-2.7804	14.735	0.69409	0.0:0.9287:0.0:0.0713	.	456	Q8N8D1	PDCD7_HUMAN	N	456;241;250	.	ENSP00000204549:D456N	D	-	1	0	PDCD7	63198200	1.000000	0.71417	0.935000	0.37517	0.995000	0.86356	4.674000	0.61612	1.561000	0.49584	0.655000	0.94253	GAT	PDCD7	-	NULL		0.438	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD7	HGNC	protein_coding	OTTHUMT00000256784.2	C	NM_005707		65411147	-1	no_errors	ENST00000204549	ensembl	human	known	70_37	missense	SNP	0.991	T	T	65411147	C	T	65411147	3	4	52	1	0	0	0	0	1	0	0	0	11649	884	31	1	95	1	PDCD7	15	65411147	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	14626093	65411147	37120245	52	7008										
KIF7	374654	genome.wustl.edu	37	chr15	90171708	90171708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tggctcgtcgcagttcccgcCggggcttggacaaaggccca	14	14	0	0	rs73477443		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr15:90171708C>T	ENST00000394412.3	-	19	4050	c.3974G>A	c.(3973-3975)cGg>cAg	p.R1325Q	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1325					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGTTCCCGCCGGGGCTTGGA	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		15326	0		0	False		,,,				2504	0																0													35	43	40					15																	90171708		2198	4287	6485	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3974G>A	15.37:g.90171708C>T	ENSP00000377934:p.Arg1325Gln		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1325Q	ENST00000394412.3	37	c.3974	CCDS32325.2	15	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.4	4.139195	0.77775	.	.	ENSG00000166813	ENST00000394412	T	0.77877	-1.13	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	L	0.32530	0.975	0.54753	D	0.99998	P;D	0.89917	0.941;1.0	P;D	0.79108	0.572;0.992	D	0.84890	0.0836	10	0.66056	D	0.02	.	19.5768	0.95447	0.0:1.0:0.0:0.0	.	811;1325	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	1325	ENSP00000377934:R1325Q	ENSP00000377934:R1325Q	R	-	2	0	KIF7	87972712	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.610000	0.74178	2.635000	0.89317	0.462000	0.41574	CGG	KIF7	-	NULL		0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90171708	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90171708	C	T	90171708	3	4	52	1	0	0	0	0	1	0	0	0	8329	652	23	2	61	2	KIF7	15	90171708	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	24760561	90171708	12359684	53	7009										
ABCC11	85320	genome.wustl.edu	37	chr16	48212593	48212593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	cagtggcctggaagctggacGccagctagaaggaaggagaa	16	8	0	2	rs376835882		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr16:48212593G>T	ENST00000394747.1	-	23	3612	c.3263C>A	c.(3262-3264)gCg>gAg	p.A1088E	ABCC11_ENST00000394748.1_Missense_Mutation_p.A1088E|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1088E|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1088E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1088	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GAAGCTGGACGCCAGCTAGAA	0.567																																																	0													80	72	75					16																	48212593		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3263C>A	16.37:g.48212593G>T	ENSP00000378230:p.Ala1088Glu		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A1088E	ENST00000394747.1	37	c.3263	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788612	0.49997	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	3.75	2.78	0.32641	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.201869	0.42294	D	0.000722	D	0.93789	0.8014	L	0.56769	1.78	0.80722	D	1	D;P	0.53462	0.96;0.777	P;P	0.52881	0.712;0.602	D	0.92323	0.5867	10	0.87932	D	0	-6.1554	7.3547	0.26713	0.1235:0.0:0.8765:0.0	.	1088;1088	Q96J66-2;Q96J66	.;ABCCB_HUMAN	E	1088	ENSP00000311326:A1088E;ENSP00000349017:A1088E;ENSP00000378231:A1088E;ENSP00000378230:A1088E	ENSP00000311326:A1088E	A	-	2	0	ABCC11	46770094	0.988000	0.35896	0.437000	0.26809	0.177000	0.22998	2.087000	0.41653	0.795000	0.33922	0.462000	0.41574	GCG	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1		0.567	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48212593	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	missense	SNP	0.973	T	T	48212593	G	T	48212593	3	4	52	1	0	0	0	0	1	0	0	0	51	1087	38	2	913	2	ABCC11	16	48212593	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		48212593	42142160	54	7010										
JUP	3728	genome.wustl.edu	37	chr17	39913930	39913930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gcaactccatgagtggggccGaggccccctctgcatcaatg	12	14	2	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr17:39913930G>A	ENST00000393931.3	-	11	1998	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	JUP_ENST00000310706.5_Missense_Mutation_p.S627L|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.S627L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	627	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGTGGGGCCGAGGCCCCCTC	0.682																																					Colon(16;42 520 6044 17852 28530)												0													26	27	27					17																	39913930		2202	4300	6502	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1880C>T	17.37:g.39913930G>A	ENSP00000377508:p.Ser627Leu		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S627L	ENST00000393931.3	37	c.1880	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057736	0.55325	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.60672	0.17;0.17;0.17	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.132361	0.53938	D	0.000059	T	0.42200	0.1192	L	0.34521	1.04	0.80722	D	1	D	0.59357	0.985	B	0.32724	0.151	T	0.53507	-0.8429	10	0.52906	T	0.07	-10.5587	16.7016	0.85350	0.0:0.0:1.0:0.0	.	627	P14923	PLAK_HUMAN	L	627	ENSP00000377507:S627L;ENSP00000311113:S627L;ENSP00000377508:S627L	ENSP00000311113:S627L	S	-	2	0	JUP	37167456	1.000000	0.71417	0.916000	0.36221	0.224000	0.24922	7.416000	0.80143	2.595000	0.87683	0.561000	0.74099	TCG	JUP	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	G			39913930	-1	no_errors	ENST00000310706	ensembl	human	known	70_37	missense	SNP	0.995	A	A	39913930	G	A	39913930	3	1	52	1	0	0	0	0	1	0	0	0	7992	1059	37	1	373	1	JUP	17	39913930	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		39913930	41281280	55	7011										
SCPEP1	59342	genome.wustl.edu	37	chr17	55055543	55055543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ggagctggcactgcggcgctCtcccgtcccgcggtggttgc	16	15	1	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr17:55055543C>T	ENST00000262288.3	+	1	78	c.23C>T	c.(22-24)tCt>tTt	p.S8F	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	8					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CTGCGGCGCTCTCCCGTCCCG	0.667																																																	0													22	17	18					17																	55055543		2199	4296	6495	SO:0001583	missense	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.23C>T	17.37:g.55055543C>T	ENSP00000262288:p.Ser8Phe		Q96A94|Q9H3F0	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.S8F	ENST00000262288.3	37	c.23	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236165	0.39498	.	.	ENSG00000121064	ENST00000262288	T	0.18502	2.21	4.1	-6.06	0.02165	.	2.144350	0.01465	N	0.016056	T	0.09642	0.0237	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28650	-1.0037	10	0.18276	T	0.48	-0.5992	10.5101	0.44857	0.0:0.6063:0.1683:0.2254	.	8	Q9HB40	RISC_HUMAN	F	8	ENSP00000262288:S8F	ENSP00000262288:S8F	S	+	2	0	SCPEP1	52410542	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.214000	0.02988	-0.655000	0.05387	-0.251000	0.11542	TCT	SCPEP1	-	NULL		0.667	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	C	NM_021626		55055543	1	no_errors	ENST00000262288	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55055543	C	T	55055543	3	4	52	1	0	0	0	0	1	0	0	0	13965	913	32	1	25	1	SCPEP1	17	55055543	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	15141613	55055543	26139667	56	7012										
MUC16	94025	genome.wustl.edu	37	chr19	9057477	9057477	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tcatctctgagtgtaaaaatCtaggaggaacagttgagtgg	12	5	3	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:9057477C>T	ENST00000397910.4	-	3	30172	c.29969G>A	c.(29968-29970)aGa>aAa	p.R9990K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9992	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTAAAAATCTAGGAGGAAC	0.458																																																	0													141	138	139					19																	9057477		1922	4129	6051	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29969G>A	19.37:g.9057477C>T	ENSP00000381008:p.Arg9990Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R9990K	ENST00000397910.4	37	c.29969	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	5.887	0.347699	0.11126	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	1.61	0.551	0.17225	.	.	.	.	.	T	0.10078	0.0247	N	0.19112	0.55	.	.	.	P	0.34977	0.478	B	0.25987	0.065	T	0.19647	-1.0299	8	0.87932	D	0	.	3.8896	0.09113	0.0:0.7655:0.0:0.2345	.	9990	B5ME49	.	K	9990	ENSP00000381008:R9990K	ENSP00000381008:R9990K	R	-	2	0	MUC16	8918477	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.365000	0.02587	0.235000	0.21160	0.460000	0.39030	AGA	MUC16	-	NULL		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9057477	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9057477	C	T	9057477	3	4	52	1	0	0	0	0	1	0	0	0	9996	913	32	1	13882	1	MUC16	19	9057477	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		9057477	50071506	57	7013										
MUC16	94025	genome.wustl.edu	37	chr19	9058918	9058918	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ttcaaaaacgtgaattgcctCtgtctccgtggtggctttag	10	9	3	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:9058918C>T	ENST00000397910.4	-	3	28731	c.28528G>A	c.(28528-28530)Gag>Aag	p.E9510K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9512	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAATTGCCTCTGTCTCCGTG	0.493																																																	0													156	152	154					19																	9058918		1990	4166	6156	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28528G>A	19.37:g.9058918C>T	ENSP00000381008:p.Glu9510Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E9510K	ENST00000397910.4	37	c.28528	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	7.864	0.726771	0.15439	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	2.22	1.14	0.20703	.	.	.	.	.	T	0.21801	0.0525	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.41236	0.351	T	0.30416	-0.9979	8	0.87932	D	0	.	6.6339	0.22872	0.0:0.5072:0.4928:0.0	.	9510	B5ME49	.	K	9510	ENSP00000381008:E9510K	ENSP00000381008:E9510K	E	-	1	0	MUC16	8919918	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.014000	0.03641	0.482000	0.27582	0.197000	0.17608	GAG	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9058918	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9058918	C	T	9058918	3	4	52	1	0	0	0	0	1	0	0	0	9996	922	32	1	15323	1	MUC16	19	9058918	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	1441	9058918	50070065	58	7014										
RHPN2	85415	genome.wustl.edu	37	chr19	33493743	33493743	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gcagcctcctgagccaccttCaccagcatgaagaattcatt	7	14	2	3			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:33493743C>T	ENST00000254260.3	-	8	959	c.924G>A	c.(922-924)gtG>gtA	p.V308V	RHPN2_ENST00000400226.4_Silent_p.V157V	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	308	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GAGCCACCTTCACCAGCATGA	0.547																																																	0													53	53	53					19																	33493743		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.924G>A	19.37:g.33493743C>T			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.V308	ENST00000254260.3	37	c.924	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.547	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	C	NM_033103		33493743	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	silent	SNP	0.994	T	T	33493743	C	T	33493743	2	4	52	1	0	0	0	0	0	0	0	1	13381	813	29	1		1	RHPN2	19	33493743	Silent	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	24434825	33493743	25635240	59	7015										
KCNK6	9424	genome.wustl.edu	37	chr19	38818030	38818030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ctcccacaccgactacgcttCcatccccaggtagctggggc	9	18	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:38818030C>T	ENST00000263372.3	+	3	1036	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	310					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GACTACGCTTCCATCCCCAGG	0.647																																																	0													35	36	35					19																	38818030		2203	4300	6503	SO:0001583	missense	9424			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.929C>T	19.37:g.38818030C>T	ENSP00000263372:p.Ser310Phe		Q9HB47	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1	p.S310F	ENST00000263372.3	37	c.929	CCDS12513.1	19	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638064	0.87760	.	.	ENSG00000099337	ENST00000263372	T	0.26957	1.7	5.36	4.27	0.50696	.	0.310059	0.34555	N	0.003866	T	0.43590	0.1254	M	0.72118	2.19	0.47862	D	0.999537	D	0.64830	0.994	P	0.57679	0.825	T	0.43925	-0.9361	10	0.87932	D	0	.	13.2238	0.59903	0.0:0.8389:0.1611:0.0	.	310	Q9Y257	KCNK6_HUMAN	F	310	ENSP00000263372:S310F	ENSP00000263372:S310F	S	+	2	0	KCNK6	43509870	0.991000	0.36638	1.000000	0.80357	0.879000	0.50718	3.667000	0.54547	2.529000	0.85273	0.561000	0.74099	TCC	KCNK6	-	pirsf_2pore_dom_K_chnl_TASK/TWIK		0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK6	HGNC	protein_coding	OTTHUMT00000460524.1	C	NM_004823		38818030	1	no_errors	ENST00000263372	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38818030	C	T	38818030	3	4	52	1	0	0	0	0	1	0	0	0	8090	855	30	1	939	1	KCNK6	19	38818030	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	5324287	38818030	20310953	60	7016										
CAPN12	147968	genome.wustl.edu	37	chr19	39230771	39230771	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	ccccatgctgttttgtctcaGatagagcacctcgcccacgc	8	16	1	2	rs59420559|rs532284494		TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:39230771G>A	ENST00000328867.4	-	5	957	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Silent_p.L68L	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	217	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTTTGTCTCAGATAGAGCACC	0.627																																																	0													43	38	40					19																	39230771		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.649C>T	19.37:g.39230771G>A				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L217	ENST00000328867.4	37	c.649	CCDS12519.1	19																																																																																			CAPN12	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.627	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	G			39230771	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39230771	G	A	39230771	2	1	52	1	0	0	0	0	0	0	0	1	2630	933	33	1		1	CAPN12	19	39230771	Silent	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	412741	39230771	19898212	61	7017										
PAF1	55095	genome.wustl.edu	37	chr19	39876993	39876993	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	actctcgctgcccgagtgctCatcttcactgccctccttct	6	18	5	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:39876993C>G	ENST00000314471.6	+	0	4519				PAF1_ENST00000221266.7_Intron|PAF1_ENST00000221265.3_Missense_Mutation_p.E412Q|PAF1_ENST00000595564.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCCGAGTGCTCATCTTCACTG	0.607																																																	0													215	192	199					19																	39876993		2203	4300	6503	SO:0001628	intergenic_variant	54623				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876993C>G			A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.E412Q	ENST00000314471.6	37	c.1234	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	c	13.03	2.116872	0.37339	.	.	ENSG00000006712	ENST00000221265	.	.	.	5.36	5.36	0.76844	.	0.055090	0.64402	D	0.000001	T	0.58308	0.2113	L	0.44542	1.39	0.80722	D	1	B	0.20887	0.049	B	0.29663	0.105	T	0.53718	-0.8399	9	0.33940	T	0.23	-16.4261	16.628	0.84984	0.0:1.0:0.0:0.0	.	412	Q8N7H5	PAF1_HUMAN	Q	412	.	ENSP00000221265:E412Q	E	-	1	0	PAF1	44568833	1.000000	0.71417	0.889000	0.34880	0.188000	0.23474	7.177000	0.77650	2.528000	0.85240	0.450000	0.29827	GAG	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.607	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000464467.1	C	NM_018028		39876993	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39876993	C	G	39876993	1	3	52	0	1	0	0	0	0	0	0	0	11407	835	29	1		1	PAF1	19	39876993	IGR	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	646222	39876993	19251990	62	7018										
ZNF83	55769	genome.wustl.edu	37	chr19	53117017	53117017	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gaaatatgatggaagaccttTccacatacattacatctgta	6	8	1	2	rs7248435	byFrequency	TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr19:53117017T>G	ENST00000597597.1	-	2	3054	c.801A>C	c.(799-801)ggA>ggC	p.G267G	ZNF83_ENST00000541777.2_Silent_p.G267G|ZNF83_ENST00000301096.3_Silent_p.G267G|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.G267G|ZNF83_ENST00000544146.1_Silent_p.G267G|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.G267G|ZNF83_ENST00000536937.1_Silent_p.G267G			P51522	ZNF83_HUMAN	zinc finger protein 83	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GGAAGACCTTTCCACATACAT	0.403													T|||	1368	0.273163	0.1649	0.4323	5008	,	,		17989	0.497		0.2137	False		,,,				2504	0.137																0								T	,,,,,,,,	384,4022		38,308,1857	84	78	80		801,801,801,801,801,801,801,801,801	0.5	0.1	19	dbSNP_116	80	907,7693		116,675,3509	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF83	NM_001105549.1,NM_001105550.1,NM_001105551.1,NM_001105552.1,NM_001105553.1,NM_001105554.1,NM_001242531.1,NM_001242538.1,NM_018300.3	,,,,,,,,	154,983,5366	GG,GT,TT		10.5465,8.7154,9.9262	,,,,,,,,	267/517,267/517,267/517,267/517,267/489,267/489,267/489,267/489,267/517	53117017	1291,11715	2203	4300	6503	SO:0001819	synonymous_variant	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.801A>C	19.37:g.53117017T>G			A8MT75|Q3ZCX0|Q6PI08	Splice_Site	SNP	-	e1+2	ENST00000597597.1	37	c.799+2	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	-	0.039	-1.293052	0.01375	0.087154	0.105465	ENSG00000167766	ENST00000434535	.	.	.	1.64	0.536	0.17138	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999998759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1646	0.10300	0.0:0.2128:0.3331:0.4541	rs7248435;rs7248435	.	.	.	.	-1	.	.	.	-	.	.	ZNF83	57808829	0.000000	0.05858	0.070000	0.20053	0.008000	0.06430	-3.515000	0.00445	0.214000	0.20742	-0.811000	0.03165	.	ZNF83	-	-		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	T	NM_018300		53117017	-1	no_errors	ENST00000434535	ensembl	human	known	70_37	splice_site	SNP	0.946	G	G	53117017	T	G	53117017	2	3	52	1	0	0	0	0	0	0	0	1	18213	1770	62	5		5	ZNF83	19	53117017	Silent	SNP	T	TCGA-DG-A2KH-01A-21D-A22X-09	13240024	53117017	6011966	63	7019										
TAF4	6874	genome.wustl.edu	37	chr20	60574120	60574120	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	tcaagctgttcaaaaaacttGagctgtgcccggacgtcact	9	11	3	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr20:60574120G>A	ENST00000252996.4	-	12	2831	c.2832C>T	c.(2830-2832)ctC>ctT	p.L944L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	944					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAAAAACTTGAGCTGTGCCC	0.493																																																	0													302	310	307					20																	60574120		2203	4300	6503	SO:0001819	synonymous_variant	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2832C>T	20.37:g.60574120G>A			A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.L944	ENST00000252996.4	37	c.2832	CCDS33500.1	20																																																																																			TAF4	-	pfam_TAF4		0.493	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	G	NM_003185		60574120	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	silent	SNP	1.000	A	A	60574120	G	A	60574120	2	1	52	1	0	0	0	0	0	0	0	1	15556	1277	45	1		1	TAF4	20	60574120	Silent	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		60574120	2451400	64	7020										
BACH1	571	genome.wustl.edu	37	chr21	30714889	30714889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	agctgcagattgcccactttCatttttaatttctgaaaaag	6	8	2	2			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr21:30714889C>T	ENST00000399921.1	+	5	2189	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	BACH1_ENST00000286800.3_Missense_Mutation_p.S649L	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCCCACTTTCATTTTTAATT	0.428																																																	0													97	105	103					21																	30714889		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1946C>T	21.37:g.30714889C>T	ENSP00000382805:p.Ser649Leu		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S649L	ENST00000399921.1	37	c.1946	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881775	0.72294	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72615	-0.67;-0.67	5.86	5.86	0.93980	.	0.180261	0.38663	N	0.001610	T	0.68677	0.3027	L	0.56769	1.78	0.43740	D	0.996232	P	0.35077	0.483	B	0.35859	0.212	T	0.66392	-0.5935	10	0.33141	T	0.24	-16.7934	16.4809	0.84157	0.1314:0.8686:0.0:0.0	.	649	O14867	BACH1_HUMAN	L	649	ENSP00000286800:S649L;ENSP00000382805:S649L	ENSP00000286800:S649L	S	+	2	0	BACH1	29636760	0.994000	0.37717	0.977000	0.42913	0.998000	0.95712	3.517000	0.53443	2.781000	0.95711	0.650000	0.86243	TCA	BACH1	-	NULL		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	C	NM_206866		30714889	1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	0.873	T	T	30714889	C	T	30714889	3	4	52	1	0	0	0	0	1	0	0	0	1284	838	29	1	1960	1	BACH1	21	30714889	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		30714889	17415006	65	7021										
LZTR1	8216	genome.wustl.edu	37	chr22	21345972	21345972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gctccccaccacccccgcagCggcgctacgggcataccatg	10	20	0	0			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chr22:21345972C>T	ENST00000215739.8	+	9	1206	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R264W	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	283					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACCCCCGCAGCGGCGCTACGG	0.632																																																	0													32	30	30					22																	21345972		2202	4295	6497	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.847C>T	22.37:g.21345972C>T	ENSP00000215739:p.Arg283Trp		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R283W	ENST00000215739.8	37	c.847	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244941	0.79912	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.79352	-1.26;-1.26	5.18	3.0	0.34707	Kelch-type beta propeller (1);	0.049603	0.85682	D	0.000000	D	0.89051	0.6605	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.991;0.976	D	0.89157	0.3527	10	0.66056	D	0.02	-39.5062	11.1917	0.48690	0.485:0.515:0.0:0.0	.	264;242;283;242	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	W	242;283;264	ENSP00000215739:R283W;ENSP00000374006:R264W	ENSP00000215739:R283W	R	+	1	2	LZTR1	19675972	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.752000	0.47516	0.527000	0.28560	0.407000	0.27541	CGG	LZTR1	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	C	NM_006767		21345972	1	no_errors	ENST00000215739	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21345972	C	T	21345972	3	4	52	1	0	0	0	0	1	0	0	0	9160	759	27	2	881	2	LZTR1	22	21345972	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09		21345972	29958594	66	7022										
EGFL6	25975	genome.wustl.edu	37	chrX	13636149	13636149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gaagaatgacatagaggagcGaagcctgcgaggagatgtgt	16	5	0	4			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chrX:13636149G>A	ENST00000361306.1	+	8	1336	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	EGFL6_ENST00000380602.3_Missense_Mutation_p.R360Q	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	360					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						ATAGAGGAGCGAAGCCTGCGA	0.363																																																	0													46	48	48					X																	13636149		2203	4298	6501	SO:0001583	missense	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1079G>A	X.37:g.13636149G>A	ENSP00000355126:p.Arg360Gln		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R360Q	ENST00000361306.1	37	c.1079	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	G	2.188	-0.385968	0.04966	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.69435	-0.4;-0.29	5.49	-0.431	0.12295	.	1.126930	0.06428	N	0.723569	T	0.31888	0.0811	N	0.01493	-0.835	0.09310	N	1	B;B	0.16603	0.014;0.018	B;B	0.06405	0.002;0.002	T	0.26710	-1.0095	10	0.02654	T	1	.	6.9635	0.24610	0.6083:0.1152:0.2765:0.0	.	360;360	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	Q	360	ENSP00000355126:R360Q;ENSP00000369976:R360Q	ENSP00000355126:R360Q	R	+	2	0	EGFL6	13546070	0.002000	0.14202	0.000000	0.03702	0.951000	0.60555	0.655000	0.24933	-0.499000	0.06623	0.589000	0.80489	CGA	EGFL6	-	NULL		0.363	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	G	NM_015507		13636149	1	no_errors	ENST00000380602	ensembl	human	known	70_37	missense	SNP	0.000	A	A	13636149	G	A	13636149	3	1	52	1	0	0	0	0	1	0	0	0	4973	1058	37	1	1109	1	EGFL6	23	13636149	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09		13636149	141634411	67	7023										
MAGEB10	139422	genome.wustl.edu	37	chrX	27839694	27839694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	aaggagtcaacgaccaaatgGaagaaaggccaatatgcaca	10	8	1	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chrX:27839694G>A	ENST00000356790.2	+	3	516	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	91										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CGACCAAATGGAAGAAAGGCC	0.468																																																	0													57	44	48					X																	27839694		2202	4300	6502	SO:0001583	missense	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.271G>A	X.37:g.27839694G>A	ENSP00000368304:p.Glu91Lys		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E91K	ENST00000356790.2	37	c.271	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980156	0.34942	.	.	ENSG00000177689	ENST00000356790	T	0.08008	3.14	2.2	-0.476	0.12100	Melanoma associated antigen, MAGE, N-terminal (1);	0.423288	0.23208	N	0.050712	T	0.12518	0.0304	M	0.82823	2.61	0.09310	N	1	P	0.39003	0.654	B	0.43052	0.406	T	0.09885	-1.0654	10	0.34782	T	0.22	.	4.5473	0.12087	0.5557:0.0:0.4443:0.0	.	91	Q96LZ2	MAGBA_HUMAN	K	91	ENSP00000368304:E91K	ENSP00000368304:E91K	E	+	1	0	MAGEB10	27749615	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.266000	0.08631	-0.215000	0.10063	0.422000	0.28245	GAA	MAGEB10	-	pfam_Melanoma_ass_antigen_N		0.468	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	G	NM_182506		27839694	1	no_errors	ENST00000356790	ensembl	human	known	70_37	missense	SNP	0.000	A	A	27839694	G	A	27839694	3	1	52	1	0	0	0	0	1	0	0	0	9196	1175	41	1	273	1	MAGEB10	23	27839694	Missense_Mutation	SNP	G	TCGA-DG-A2KH-01A-21D-A22X-09	14203545	27839694	127430866	68	7024										
GPC4	2239	genome.wustl.edu	37	chrX	132548981	132548981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.308823529411765	21	3.28925133378944e-06	3.14721485411141	6.20879120879121	2.72699849170437	0.00167843514958313	0.0105037554522299	14	gcagagaagcgcgggcaagcCgaaccgtgccatggtgcggg	18	11	0	1			TCGA-DG-A2KH-01A-21D-A22X-09	TCGA-DG-A2KH-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f012de18-28d4-4214-a883-8b0a74c598a0	cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e	g.chrX:132548981C>T	ENST00000370828.3	-	1	537	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	5					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCGGGCAAGCCGAACCGTGCC	0.697																																																	0													22	24	23					X																	132548981		2201	4291	6492	SO:0001583	missense	2239			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.13G>A	X.37:g.132548981C>T	ENSP00000359864:p.Gly5Ser		B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	pfam_Glypican	p.G5S	ENST00000370828.3	37	c.13	CCDS14637.1	X	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177636	0.21787	.	.	ENSG00000076716	ENST00000370828;ENST00000536418	T	0.36878	1.23	4.22	2.18	0.27775	.	0.834886	0.10617	N	0.653769	T	0.15219	0.0367	N	0.03608	-0.345	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.29427	-1.0012	10	0.19147	T	0.46	.	7.4057	0.26989	0.1544:0.5029:0.3427:0.0	.	5	O75487	GPC4_HUMAN	S	5	ENSP00000359864:G5S	ENSP00000359864:G5S	G	-	1	0	GPC4	132376647	0.999000	0.42202	0.985000	0.45067	0.831000	0.47069	0.480000	0.22244	0.570000	0.29347	0.468000	0.43344	GGC	GPC4	-	NULL		0.697	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC4	HGNC	protein_coding	OTTHUMT00000058338.1	C	NM_001448		132548981	-1	no_errors	ENST00000370828	ensembl	human	known	70_37	missense	SNP	0.081	T	T	132548981	C	T	132548981	3	4	52	1	0	0	0	0	1	0	0	0	6619	652	23	2	1693	2	GPC4	23	132548981	Missense_Mutation	SNP	C	TCGA-DG-A2KH-01A-21D-A22X-09	104709287	132548981	22721579	69	7025										
ZBTB24	9841	genome.wustl.edu	37	chr6	109787778	109787778	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5	1	0.364292936588185	3.41666666666667	NA	3.41666666666667	1	1	0	aggagtatggcttttctcctCtgtaagaaaataaacatttt	7	6	2	1			TCGA-DG-A2KJ-01A-11D-A18J-09	TCGA-DG-A2KJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8be2b0f5-7bad-4720-b13c-e95b32bdb933	8741af22-0355-4085-9c09-abee617690d0	g.chr6:109787778C>T	ENST00000230122.3	-	7	1538		c.e7-1		MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24						hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTTTTCTCCTCTGTAAGAAAA	0.383																																																	0													53	57	56					6																	109787778		2160	4282	6442	SO:0001630	splice_region_variant	9841			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1371-1G>A	6.37:g.109787778C>T			Q17RC6|Q5TED5|Q8N455	Splice_Site	SNP	-	e6-1	ENST00000230122.3	37	c.1371-1	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561835	0.27915	.	.	ENSG00000112365	ENST00000230122	.	.	.	6.03	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4719	0.87648	0.0:0.8759:0.1241:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB24	109894471	1.000000	0.71417	0.989000	0.46669	0.252000	0.25951	5.731000	0.68554	1.541000	0.49316	0.655000	0.94253	.	ZBTB24	-	-		0.383	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	C	NM_014797	Intron	109787778	-1	no_errors	ENST00000230122	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	109787778	C	T	109787778	5	4	53	1	0	0	0	0	0	0	1	0	17561	927	32	1	727	1	ZBTB24	6	109787778	Splice_Site	SNP	C	TCGA-DG-A2KJ-01A-11D-A18J-09		109787778	61327289	1	7026										
KIAA1244	57221	genome.wustl.edu	37	chr6	138613152	138613152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5	1	0.364292936588185	3.41666666666667	NA	3.41666666666667	1	1	0	ctcatgagcgggagcagcgcGgccaaggtggtgctcaccct	15	13	2	1			TCGA-DG-A2KJ-01A-11D-A18J-09	TCGA-DG-A2KJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8be2b0f5-7bad-4720-b13c-e95b32bdb933	8741af22-0355-4085-9c09-abee617690d0	g.chr6:138613152G>A	ENST00000251691.4	+	19	3496	c.3330G>A	c.(3328-3330)gcG>gcA	p.A1110A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGCAGCGCGGCCAAGGTGG	0.721																																																	0													4	5	5					6																	138613152		2016	4064	6080	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3330G>A	6.37:g.138613152G>A				Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.A1110	ENST00000251691.4	37	c.3330	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold		0.721	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	G	NM_020340		138613152	1	no_errors	ENST00000251691	ensembl	human	known	70_37	silent	SNP	0.005	A	A	138613152	G	A	138613152	2	1	53	1	0	0	0	0	0	0	0	1	8237	1103	39	2		2	KIAA1244	6	138613152	Silent	SNP	G	TCGA-DG-A2KJ-01A-11D-A18J-09	28825374	138613152	32501915	2	7027										
ACOT7	11332	genome.wustl.edu	37	chr1	6399616	6399616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gggagacaggaagtcggtgcGctcgacacgagccagggcgg	19	10	0	1	rs201654646		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:6399616G>A	ENST00000377855.2	-	3	471	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	ACOT7_ENST00000361521.4_Missense_Mutation_p.R99C|ACOT7_ENST00000541130.1_Missense_Mutation_p.R79C|ACOT7_ENST00000545482.1_5'UTR|ACOT7_ENST00000377842.3_Missense_Mutation_p.R58C|ACOT7_ENST00000377845.3_Missense_Mutation_p.R79C|ACOT7_ENST00000608083.1_Missense_Mutation_p.R67C	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	109	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		AAGTCGGTGCGCTCGACACGA	0.647													G|||	1	0.000199681	0	0	5008	,	,		15108	0		0.001	False		,,,				2504	0				GBM(74;673 1226 4974 11850 13190)												0													53	51	52					1																	6399616		2203	4300	6503	SO:0001583	missense	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.325C>T	1.37:g.6399616G>A	ENSP00000367086:p.Arg109Cys		A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	pfam_Thioestr_supf	p.R109C	ENST00000377855.2	37	c.325	CCDS65.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971607	0.74246	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.46819	1.86;0.86;0.86;0.86;0.86	4.88	4.88	0.63580	Thioesterase superfamily (1);	0.132589	0.49305	N	0.000156	T	0.70718	0.3256	M	0.83012	2.62	0.80722	D	1	B;P;D;B	0.89917	0.41;0.468;1.0;0.274	B;B;D;B	0.69142	0.054;0.081;0.962;0.022	T	0.75283	-0.3372	10	0.56958	D	0.05	.	17.3841	0.87412	0.0:0.0:1.0:0.0	.	99;109;79;58	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	C	109;79;58;99;79	ENSP00000367086:R109C;ENSP00000367076:R79C;ENSP00000367073:R58C;ENSP00000354615:R99C;ENSP00000441872:R79C	ENSP00000354615:R99C	R	-	1	0	ACOT7	6322203	1.000000	0.71417	0.992000	0.48379	0.612000	0.37316	5.858000	0.69532	2.402000	0.81655	0.655000	0.94253	CGC	ACOT7	-	pfam_Thioestr_supf		0.647	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	G	NM_007274		6399616	-1	no_errors	ENST00000377855	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6399616	G	A	6399616	3	1	54	1	0	0	0	0	1	0	0	0	155	1087	38	2	845	2	ACOT7	1	6399616	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		6399616	242851005	1	7028										
SRM	6723	genome.wustl.edu	37	chr1	11116762	11116762	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtagggtcagcttcgagctaGagtagccaatggccatgcct	13	10	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:11116762G>A	ENST00000376957.2	-	4	514	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	145	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CTTCGAGCTAGAGTAGCCAAT	0.557																																																	0													97	85	89					1																	11116762		2203	4300	6503	SO:0001583	missense	6723			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.434C>T	1.37:g.11116762G>A	ENSP00000366156:p.Ser145Phe		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.S145F	ENST00000376957.2	37	c.434	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846907	0.51164	.	.	ENSG00000116649	ENST00000376957	T	0.78003	-1.14	5.35	5.35	0.76521	.	0.107611	0.64402	D	0.000004	T	0.75932	0.3917	L	0.55481	1.735	0.53688	D	0.999976	B	0.18863	0.031	B	0.16722	0.016	T	0.72414	-0.4301	10	0.56958	D	0.05	.	18.4201	0.90587	0.0:0.0:1.0:0.0	.	145	P19623	SPEE_HUMAN	F	145	ENSP00000366156:S145F	ENSP00000366156:S145F	S	-	2	0	SRM	11039349	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.796000	0.62496	2.663000	0.90544	0.561000	0.74099	TCT	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase		0.557	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	G	NM_003132		11116762	-1	no_errors	ENST00000376957	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11116762	G	A	11116762	3	1	54	1	0	0	0	0	1	0	0	0	15181	942	33	1	494	1	SRM	1	11116762	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4717146	11116762	238133859	2	7029										
MFN2	9927	genome.wustl.edu	37	chr1	12049379	12049379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agctgggggcctacatccagGagagcgccaccttccttgaa	12	13	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:12049379G>A	ENST00000235329.5	+	3	476	c.154G>A	c.(154-156)Gag>Aag	p.E52K	MFN2_ENST00000444836.1_Missense_Mutation_p.E52K|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	52					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTACATCCAGGAGAGCGCCAC	0.537																																																	0													80	77	78					1																	12049379		2203	4300	6503	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.154G>A	1.37:g.12049379G>A	ENSP00000235329:p.Glu52Lys		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.E52K	ENST00000235329.5	37	c.154	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.668855	0.96754	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.99422	-5.88;-5.88;-4.05	5.77	5.77	0.91146	.	0.051625	0.85682	D	0.000000	D	0.99208	0.9725	M	0.77486	2.375	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	D	0.99849	1.1069	9	.	.	.	-32.0868	18.9719	0.92718	0.0:0.0:1.0:0.0	.	52	O95140	MFN2_HUMAN	K	52	ENSP00000416338:E52K;ENSP00000235329:E52K;ENSP00000412023:E52K	.	E	+	1	0	MFN2	11971966	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GAG	MFN2	-	NULL		0.537	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	G	NM_014874		12049379	1	no_errors	ENST00000235329	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12049379	G	A	12049379	3	1	54	1	0	0	0	0	1	0	0	0	9547	1175	41	1	156	1	MFN2	1	12049379	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	932617	12049379	237201242	3	7030										
VPS13D	55187	genome.wustl.edu	37	chr1	12359381	12359381	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtagcaaatttggggaagttGaaagtcaaaaataagtttct	10	3	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:12359381G>A	ENST00000358136.3	+	25	6286	c.6156G>A	c.(6154-6156)ttG>ttA	p.L2052L	VPS13D_ENST00000356315.4_Silent_p.L2052L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGGAAGTTGAAAGTCAAAA	0.423																																																	0													107	102	104					1																	12359381		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6156G>A	1.37:g.12359381G>A				Silent	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L2052	ENST00000358136.3	37	c.6156	CCDS30588.1	1																																																																																			VPS13D	-	NULL		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12359381	1	no_errors	ENST00000358136	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12359381	G	A	12359381	2	1	54	1	0	0	0	0	0	0	0	1	17223	1281	45	1		1	VPS13D	1	12359381	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	310002	12359381	236891240	4	7031										
PLEKHM2	23207	genome.wustl.edu	37	chr1	16054080	16054080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggctgctggccaagaagaaGagggaggaggaggagaggga	21	4	0	4			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:16054080G>A	ENST00000375799.3	+	9	1740	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.E485K	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	505					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCAAGAAGAAGAGGGAGGAGG	0.642																																																	0													23	29	27					1																	16054080		2016	4154	6170	SO:0001583	missense	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1513G>A	1.37:g.16054080G>A	ENSP00000364956:p.Glu505Lys		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.E505K	ENST00000375799.3	37	c.1513	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173430	0.57584	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.47869	0.83;0.83	5.45	4.54	0.55810	.	0.652197	0.15104	N	0.280356	T	0.28067	0.0692	N	0.08118	0	0.41455	D	0.988008	B	0.19817	0.039	B	0.16722	0.016	T	0.06481	-1.0824	10	0.23891	T	0.37	-0.0914	12.1279	0.53926	0.0792:0.0:0.9208:0.0	.	505	Q8IWE5	PKHM2_HUMAN	K	505;485	ENSP00000364956:E505K;ENSP00000364950:E485K	ENSP00000364950:E485K	E	+	1	0	PLEKHM2	15926667	1.000000	0.71417	0.411000	0.26484	0.994000	0.84299	7.420000	0.80191	1.296000	0.44742	0.655000	0.94253	GAG	PLEKHM2	-	NULL		0.642	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	G	NM_015164		16054080	1	no_errors	ENST00000375799	ensembl	human	known	70_37	missense	SNP	0.998	A	A	16054080	G	A	16054080	3	1	54	1	0	0	0	0	1	0	0	0	12105	943	33	1	1547	1	PLEKHM2	1	16054080	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3694699	16054080	233196541	5	7032										
EPHA2	1969	genome.wustl.edu	37	chr1	16460102	16460102	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cttcaggggcttcagttgttCtggaaggagaaggggtgggg	19	5	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:16460102C>A	ENST00000358432.5	-	10	1893		c.e10-1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTCAGTTGTTCTGGAAGGAGA	0.567																																																	0													47	48	48					1																	16460102		2203	4300	6503	SO:0001630	splice_region_variant	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1739-1G>T	1.37:g.16460102C>A			B5A968|Q8N3Z2	Splice_Site	SNP	-	e10-1	ENST00000358432.5	37	c.1739-1	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742538	0.69418	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6888	0.85316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA2	16332689	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	6.090000	0.71397	2.719000	0.93026	0.591000	0.81541	.	EPHA2	-	-		0.567	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431	Intron	16460102	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	16460102	C	A	16460102	5	1	54	1	0	0	0	0	0	0	1	0	5179	927	32	3	1224	3	EPHA2	1	16460102	Splice_Site	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	406022	16460102	232790519	6	7033										
EPHA2	1969	genome.wustl.edu	37	chr1	16475389	16475389	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agggaagctgttgcagtcacGtacagtaaacttgagctcaa	11	8	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:16475389G>C	ENST00000358432.5	-	3	461	c.307C>G	c.(307-309)Cgt>Ggt	p.R103G	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTGCAGTCACGTACAGTAAAC	0.557																																																	0													97	82	87					1																	16475389		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.307C>G	1.37:g.16475389G>C	ENSP00000351209:p.Arg103Gly		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R103G	ENST00000358432.5	37	c.307	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691447	0.68271	.	.	ENSG00000142627	ENST00000358432	T	0.05786	3.39	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000055	T	0.34803	0.0910	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.42799	-0.9430	10	0.87932	D	0	.	16.5455	0.84444	0.0:0.0:1.0:0.0	.	103;103	B5A968;P29317	.;EPHA2_HUMAN	G	103	ENSP00000351209:R103G	ENSP00000351209:R103G	R	-	1	0	EPHA2	16347976	1.000000	0.71417	0.987000	0.45799	0.683000	0.39861	4.006000	0.57083	2.503000	0.84419	0.561000	0.74099	CGT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.557	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16475389	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16475389	G	C	16475389	3	2	54	1	0	0	0	0	1	0	0	0	5179	1145	40	2	2683	2	EPHA2	1	16475389	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	15287	16475389	232775232	7	7034										
KIAA0090	23065	genome.wustl.edu	37	chr1	19561705	19561705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catctctaggcacaccacttCtgccagggactcctcacggc	8	17	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:19561705C>T	ENST00000477853.1	-	13	1393	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.E429K|EMC1_ENST00000375199.3_Missense_Mutation_p.E450K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	451						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CACACCACTTCTGCCAGGGAC	0.562																																																	0													89	79	82					1																	19561705		2203	4300	6503	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1351G>A	1.37:g.19561705C>T	ENSP00000420608:p.Glu451Lys		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.E451K	ENST00000477853.1	37	c.1351	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528744|4.528744	0.85706|0.85706	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.22743|.	1.94;1.94;1.94|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.044530|.	0.85682|.	D|.	0.000000|.	T|T	0.71745|0.71745	0.3376|0.3376	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.46142|.	0.027;0.046;0.873;0.799|.	B;B;P;B|.	0.44811|.	0.037;0.045;0.461;0.272|.	T|T	0.66929|0.66929	-0.5799|-0.5799	9|5	.|.	.|.	.|.	-20.61|-20.61	18.8623|18.8623	0.92278|0.92278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	429;450;450;451|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	K|K	451;450;429|184	ENSP00000420608:E451K;ENSP00000364345:E450K;ENSP00000364354:E429K|.	.|.	E|R	-|-	1|2	0|0	KIAA0090|KIAA0090	19434292|19434292	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.944000|0.944000	0.59088|0.59088	7.280000|7.280000	0.78610|0.78610	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAA|AGA	EMC1	-	NULL		0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	C	NM_015047		19561705	-1	no_errors	ENST00000477853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19561705	C	T	19561705	3	4	54	1	0	0	0	0	1	0	0	0	8173	922	32	1	1674	1	KIAA0090	1	19561705	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3086316	19561705	229688916	8	7035										
TCEA3	6920	genome.wustl.edu	37	chr1	23724052	23724052	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggatatgatcttcgatttctGatgccatcttgtcacagttg	9	8	4	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:23724052G>C	ENST00000450454.2	-	7	756	c.650C>G	c.(649-651)tCa>tGa	p.S217*		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	217	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTCGATTTCTGATGCCATCTT	0.498																																																	0													103	98	99					1																	23724052		2014	4183	6197	SO:0001587	stop_gained	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.650C>G	1.37:g.23724052G>C	ENSP00000406293:p.Ser217*		A8K2K7|Q5DR83	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.S217*	ENST00000450454.2	37	c.650	CCDS44086.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.136401	0.97315	.	.	ENSG00000204219	ENST00000450454	.	.	.	5.36	5.36	0.76844	.	0.066341	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.9018	13.74	0.62842	0.0:0.1545:0.8455:0.0	.	.	.	.	X	217	.	ENSP00000406293:S217X	S	-	2	0	TCEA3	23596639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.283000	0.72646	2.682000	0.91365	0.549000	0.68633	TCA	TCEA3	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII		0.498	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TCEA3	HGNC	protein_coding	OTTHUMT00000008911.2	G	NM_003196		23724052	-1	no_errors	ENST00000450454	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	23724052	G	C	23724052	4	2	54	1	0	0	0	0	0	1	0	0	15699	1294	45	1	416	1	TCEA3	1	23724052	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4162347	23724052	225526569	9	7036										
PUM1	9698	genome.wustl.edu	37	chr1	31406085	31406085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ataccattaggggggccacaGatgggccctaagtcaacacc	11	12	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:31406085G>C	ENST00000257075.5	-	22	3627	c.3534C>G	c.(3532-3534)atC>atG	p.I1178M	PUM1_ENST00000424085.2_Missense_Mutation_p.I936M|PUM1_ENST00000373741.4_Missense_Mutation_p.I1216M|PUM1_ENST00000423018.2_Missense_Mutation_p.I1036M|PUM1_ENST00000373742.2_Missense_Mutation_p.I1119M|PUM1_ENST00000426105.2_Missense_Mutation_p.I1180M|PUM1_ENST00000373747.3_Missense_Mutation_p.I1181M|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.I1154M	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1178					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGGGGCCACAGATGGGCCCTA	0.547																																																	0													172	155	161					1																	31406085		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3534C>G	1.37:g.31406085G>C	ENSP00000257075:p.Ile1178Met		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.I1180M	ENST00000257075.5	37	c.3540	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.200|7.200	0.593351|0.593351	0.13875|0.13875	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T|.	0.20069|.	2.13;2.1;2.37;2.36;2.41;2.36;2.42;2.1|.	4.96|4.96	2.92|2.92	0.33932|0.33932	.|.	0.114745|.	0.64402|.	D|.	0.000012|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.61036|0.61036	1.89|1.89	0.45378|0.45378	D|D	0.998364|0.998364	B;B;B;B;B;B;B;B|.	0.26445|.	0.107;0.149;0.003;0.056;0.005;0.003;0.005;0.005|.	B;B;B;B;B;B;B;B|.	0.30251|.	0.027;0.085;0.004;0.113;0.011;0.007;0.011;0.017|.	T|T	0.56768|0.56768	-0.7924|-0.7924	10|5	0.42905|.	T|.	0.14|.	-7.2322|-7.2322	6.558|6.558	0.22471|0.22471	0.2385:0.1457:0.6158:0.0|0.2385:0.1457:0.6158:0.0	.|.	1119;1036;1216;1154;1178;1180;1181;1180|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	M|V	936;1178;1181;918;1180;1154;1216;1036;1119|1117;892	ENSP00000400141:I936M;ENSP00000257075:I1178M;ENSP00000362852:I1181M;ENSP00000391723:I1180M;ENSP00000401777:I1154M;ENSP00000362846:I1216M;ENSP00000399440:I1036M;ENSP00000362847:I1119M|.	ENSP00000257075:I1178M|.	I|L	-|-	3|1	3|2	PUM1|PUM1	31178672|31178672	0.929000|0.929000	0.31497|0.31497	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.050000|0.050000	0.14120|0.14120	1.300000|1.300000	0.44818|0.44818	0.555000|0.555000	0.69702|0.69702	ATC|CTG	PUM1	-	NULL		0.547	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31406085	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31406085	G	C	31406085	3	2	54	1	0	0	0	0	1	0	0	0	12855	932	33	1	30	1	PUM1	1	31406085	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	7682033	31406085	217844536	10	7037										
ZC3H12A	80149	genome.wustl.edu	37	chr1	37941335	37941335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcgtccaggcagacaccaacAcggtgctgggtgagctggtg	16	11	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:37941335A>G	ENST00000373087.6	+	2	354	c.238A>G	c.(238-240)Acg>Gcg	p.T80A	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACACCAACACGGTGCTGGG	0.642																																																	0													54	50	51					1																	37941335		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.238A>G	1.37:g.37941335A>G	ENSP00000362179:p.Thr80Ala			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.T80A	ENST00000373087.6	37	c.238	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.203387	0.38905	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.22336	1.96	4.8	2.41	0.29592	.	0.234074	0.43110	D	0.000608	T	0.15696	0.0378	L	0.54323	1.7	0.33017	D	0.528276	B	0.33212	0.402	B	0.26864	0.074	T	0.14254	-1.0479	10	0.49607	T	0.09	-18.6038	4.8672	0.13615	0.6349:0.0:0.0791:0.286	.	80	Q5D1E8	ZC12A_HUMAN	A	80	ENSP00000362179:T80A	ENSP00000362174:T80A	T	+	1	0	ZC3H12A	37713922	0.937000	0.31787	0.909000	0.35828	0.337000	0.28794	0.930000	0.28858	0.189000	0.20188	-1.535000	0.00915	ACG	ZC3H12A	-	NULL		0.642	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	A	NM_025079		37941335	1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	0.984	G	G	37941335	A	G	37941335	3	3	54	1	0	0	0	0	1	0	0	0	17591	159	6	5	240	5	ZC3H12A	1	37941335	Missense_Mutation	SNP	A	TCGA-DG-A2KK-01A-11D-A17W-09	6535250	37941335	211309286	11	7038										
KIAA0754	643314	genome.wustl.edu	37	chr1	39877398	39877398	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	actcctctagttgagctacaGaatcaaatctcttctgaagg	7	10	4	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:39877398G>T	ENST00000530275.1	+	1	1248	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	351										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAGCTACAGAATCAAATCT	0.423																																																	0													77	74	75					1																	39877398		1857	4100	5957	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1053G>T	1.37:g.39877398G>T	ENSP00000431179:p.Gln351His		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.Q351H	ENST00000530275.1	37	c.1053		1	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153229	0.21371	.	.	ENSG00000255103	ENST00000530275	D	0.85955	-2.05	5.14	3.23	0.37069	.	.	.	.	.	T	0.75079	0.3801	N	0.08118	0	0.09310	N	1	P	0.48503	0.911	P	0.47941	0.562	T	0.65957	-0.6042	9	0.66056	D	0.02	.	8.4699	0.32980	0.1216:0.0:0.747:0.1314	.	351	O94854	K0754_HUMAN	H	351	ENSP00000431179:Q351H	ENSP00000431179:Q351H	Q	+	3	2	RP4-562N20.1	39649985	1.000000	0.71417	0.807000	0.32361	0.299000	0.27559	1.672000	0.37523	2.398000	0.81561	0.655000	0.94253	CAG	KIAA0754	-	NULL		0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39877398	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.151	T	T	39877398	G	T	39877398	3	4	54	1	0	0	0	0	1	0	0	0	8212	933	33	3	1463	3	KIAA0754	1	39877398	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1936063	39877398	209373223	12	7039										
RLF	6018	genome.wustl.edu	37	chr1	40705543	40705543	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagctgcctttaccaaggatCaaagaatcagaaactaggca	8	10	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:40705543C>G	ENST00000372771.4	+	8	5196	c.5169C>G	c.(5167-5169)atC>atG	p.I1723M		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1723					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TACCAAGGATCAAAGAATCAG	0.413																																																	0													52	53	52					1																	40705543		2202	4295	6497	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5169C>G	1.37:g.40705543C>G	ENSP00000361857:p.Ile1723Met		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I1723M	ENST00000372771.4	37	c.5169	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123923	0.20959	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14766	2.48	5.87	2.86	0.33363	.	0.699980	0.15247	N	0.272522	T	0.07413	0.0187	N	0.22421	0.69	0.37327	D	0.90979	B;B	0.32653	0.372;0.379	B;B	0.28916	0.096;0.071	T	0.26744	-1.0094	10	0.40728	T	0.16	-4.5703	3.5589	0.07874	0.2243:0.4619:0.2324:0.0814	.	1416;1723	F5H2M5;Q13129	.;RLF_HUMAN	M	1723;1416	ENSP00000361857:I1723M	ENSP00000361857:I1723M	I	+	3	3	RLF	40478130	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.870000	0.28010	1.628000	0.50416	-0.150000	0.13652	ATC	RLF	-	NULL		0.413	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	C	NM_012421		40705543	1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40705543	C	G	40705543	3	3	54	1	0	0	0	0	1	0	0	0	13419	816	29	1	5199	1	RLF	1	40705543	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	828145	40705543	208545078	13	7040										
BEST4	266675	genome.wustl.edu	37	chr1	45253071	45253071	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaaggacaagggaatgaggtCtgctgagcggttgcagtacc	15	7	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:45253071C>T	ENST00000372207.3	-	2	219	c.220G>A	c.(220-222)Gac>Aac	p.D74N		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	74						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GGAATGAGGTCTGCTGAGCGG	0.572																																																	0													224	225	225					1																	45253071		2203	4300	6503	SO:0001583	missense	266675			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.220G>A	1.37:g.45253071C>T	ENSP00000361281:p.Asp74Asn		Q5JR93	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D74N	ENST00000372207.3	37	c.220	CCDS514.1	1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245381	0.22796	.	.	ENSG00000142959	ENST00000372207	D	0.98345	-4.88	5.0	4.09	0.47781	.	0.163679	0.52532	D	0.000068	D	0.93916	0.8053	N	0.21448	0.665	0.36855	D	0.88811	B	0.09022	0.002	B	0.17979	0.02	D	0.90064	0.4158	10	0.06365	T	0.9	-13.6823	11.7118	0.51628	0.0:0.9122:0.0:0.0878	.	74	Q8NFU0	BEST4_HUMAN	N	74	ENSP00000361281:D74N	ENSP00000361281:D74N	D	-	1	0	BEST4	45025658	0.996000	0.38824	0.857000	0.33713	0.820000	0.46376	3.239000	0.51360	1.236000	0.43740	-0.254000	0.11334	GAC	BEST4	-	pfam_Bestrophin/UPF0187		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST4	HGNC	protein_coding	OTTHUMT00000023425.1	C	NM_153274		45253071	-1	no_errors	ENST00000372207	ensembl	human	known	70_37	missense	SNP	0.986	T	T	45253071	C	T	45253071	3	4	54	1	0	0	0	0	1	0	0	0	1408	913	32	1	1233	1	BEST4	1	45253071	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4547528	45253071	203997550	14	7041										
SARS	6301	genome.wustl.edu	37	chr1	109780429	109780429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagaagcagaagaagcaacaTgagggcagcaaaaagaaagc	12	6	0	5			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:109780429T>C	ENST00000234677.2	+	11	1539	c.1464T>C	c.(1462-1464)caT>caC	p.H488H	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Silent_p.H510H	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	488					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGAAGCAACATGAGGGCAGCA	0.512																																																	0													180	152	162					1																	109780429		2203	4300	6503	SO:0001819	synonymous_variant	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1464T>C	1.37:g.109780429T>C			B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.H510	ENST00000234677.2	37	c.1530	CCDS795.1	1																																																																																			SARS	-	NULL		0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	T	NM_006513		109780429	1	no_errors	ENST00000369923	ensembl	human	known	70_37	silent	SNP	0.239	C	C	109780429	T	C	109780429	2	2	54	1	0	0	0	0	0	0	0	1	13874	1461	51	5		5	SARS	1	109780429	Silent	SNP	T	TCGA-DG-A2KK-01A-11D-A17W-09	64527358	109780429	139470192	15	7042										
KCND3	3752	genome.wustl.edu	37	chr1	112525177	112525177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggtgtccgggtagcgctccaGcgtggtcctccaggtctgga	16	12	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:112525177G>A	ENST00000315987.2	-	2	651	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	KCND3_ENST00000369697.1_Silent_p.L58L|KCND3_ENST00000302127.4_Silent_p.L58L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	58					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TAGCGCTCCAGCGTGGTCCTC	0.627																																																	0													82	77	79					1																	112525177		2203	4300	6503	SO:0001819	synonymous_variant	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.172C>T	1.37:g.112525177G>A			O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.L58	ENST00000315987.2	37	c.172	CCDS843.1	1																																																																																			KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	G	NM_172198		112525177	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	silent	SNP	0.994	A	A	112525177	G	A	112525177	2	1	54	1	0	0	0	0	0	0	0	1	8040	962	34	4		4	KCND3	1	112525177	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2744748	112525177	136725444	16	7043										
ECM1	1893	genome.wustl.edu	37	chr1	150485845	150485845	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	attatctgaggaacgtggctCtagtgtctggagacactgag	13	7	3	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:150485845C>T	ENST00000369047.4	+	10	1650	c.1525C>T	c.(1525-1527)Cta>Tta	p.L509L	ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000346569.6_Silent_p.L384L|ECM1_ENST00000369049.4_Silent_p.L536L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	509					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAACGTGGCTCTAGTGTCTGG	0.542																																					Melanoma(156;1696 2560 11093 19685)												0													108	99	102					1																	150485845		2203	4300	6503	SO:0001819	synonymous_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1525C>T	1.37:g.150485845C>T			A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.L536	ENST00000369047.4	37	c.1606	CCDS953.1	1																																																																																			ECM1	-	pfam_ECM1		0.542	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	C	NM_004425		150485845	1	no_errors	ENST00000369049	ensembl	human	known	70_37	silent	SNP	0.933	T	T	150485845	C	T	150485845	2	4	54	1	0	0	0	0	0	0	0	1	4907	912	32	1		1	ECM1	1	150485845	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	37960668	150485845	98764776	17	7044										
INSRR	3645	genome.wustl.edu	37	chr1	156824069	156824069	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctgacgaagctctgccacctCtgagcgaatatccaggctgg	11	13	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:156824069C>G	ENST00000368195.3	-	2	508	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	38					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTGCCACCTCTGAGCGAATA	0.617																																																	0													32	33	33					1																	156824069		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.112G>C	1.37:g.156824069C>G	ENSP00000357178:p.Glu38Gln		O60724|Q5VZS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E38Q	ENST00000368195.3	37	c.112	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084875	0.20309	.	.	ENSG00000027644	ENST00000368195	T	0.30182	1.54	5.06	5.06	0.68205	.	0.145247	0.31709	N	0.007197	T	0.14874	0.0359	.	.	.	0.32875	D	0.509703	B	0.18166	0.026	B	0.20184	0.028	T	0.06445	-1.0826	9	0.46703	T	0.11	.	15.916	0.79517	0.0:1.0:0.0:0.0	.	38	P14616	INSRR_HUMAN	Q	38	ENSP00000357178:E38Q	ENSP00000357178:E38Q	E	-	1	0	INSRR	155090693	0.919000	0.31177	0.941000	0.38009	0.201000	0.24016	1.788000	0.38714	2.367000	0.80283	0.557000	0.71058	GAG	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	C	NM_014215		156824069	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	missense	SNP	0.963	G	G	156824069	C	G	156824069	3	3	54	1	0	0	0	0	1	0	0	0	7794	922	32	1	3864	1	INSRR	1	156824069	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6338224	156824069	92426552	18	7045										
OR10X1	128367	genome.wustl.edu	37	chr1	158548787	158548787	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttattcctcaggctgaatatGatggggctgaggaagggggt	16	5	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:158548787G>C	ENST00000368150.1	-	1	902	c.903C>G	c.(901-903)atC>atG	p.I301M		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408																																																	2	Substitution - coding silent(2)	lung(2)											106	112	110					1																	158548787		2203	4300	6503	SO:0001583	missense	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.903C>G	1.37:g.158548787G>C	ENSP00000357132:p.Ile301Met		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I301M	ENST00000368150.1	37	c.903	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	G	4.332	0.061017	0.08339	.	.	ENSG00000186400	ENST00000368150	T	0.47528	0.84	4.5	-0.116	0.13555	.	0.630965	0.14024	N	0.346636	T	0.08935	0.0221	N	0.26130	0.795	0.22926	N	0.998559	P	0.39282	0.666	B	0.31245	0.126	T	0.22591	-1.0212	10	0.15066	T	0.55	.	5.2258	0.15393	0.0811:0.3959:0.3881:0.1349	.	301	Q8NGY0	O10X1_HUMAN	M	301	ENSP00000357132:I301M	ENSP00000357132:I301M	I	-	3	3	OR10X1	156815411	0.813000	0.29090	0.991000	0.47740	0.846000	0.48090	-0.169000	0.09911	0.180000	0.19960	-0.302000	0.09304	ATC	OR10X1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.408	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158548787	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	missense	SNP	0.540	C	C	158548787	G	C	158548787	3	2	54	1	0	0	0	0	1	0	0	0	10946	1280	45	1	72	1	OR10X1	1	158548787	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1724718	158548787	90701834	19	7046										
IGSF9	57549	genome.wustl.edu	37	chr1	159901343	159901343	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttggtcaatggtcgcaggatGaggctgctgttgctgtccac	14	9	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:159901343G>C	ENST00000368094.1	-	12	1610	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Silent_p.L455L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	471	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L455L(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCGCAGGATGAGGCTGCTGT	0.652																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											49	46	47					1																	159901343		2203	4300	6503	SO:0001819	synonymous_variant	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1413C>G	1.37:g.159901343G>C				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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L471	ENST00000368094.1	37	c.1413	CCDS44254.1	1																																																																																			IGSF9	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159901343	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	silent	SNP	0.997	C	C	159901343	G	C	159901343	2	2	54	1	0	0	0	0	0	0	0	1	7625	1277	45	1		1	IGSF9	1	159901343	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1352556	159901343	89349278	20	7047										
UHMK1	127933	genome.wustl.edu	37	chr1	162469974	162469974	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaaccacgtaacatattgtgGagtgcagagaatgaatgttt	10	5	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:162469974G>A	ENST00000489294.1	+	2	656	c.498G>A	c.(496-498)tgG>tgA	p.W166*	UHMK1_ENST00000538489.1_Nonsense_Mutation_p.W166*|UHMK1_ENST00000545294.1_Nonsense_Mutation_p.W92*|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACATATTGTGGAGTGCAGAGA	0.413																																																	0													111	99	103					1																	162469974		2203	4300	6503	SO:0001587	stop_gained	127933			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.498G>A	1.37:g.162469974G>A	ENSP00000420270:p.Trp166*		A8K8K4|G3V1M1|Q96C22	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom	p.W166*	ENST00000489294.1	37	c.498	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.902460	0.97087	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-12.6239	16.9872	0.86342	0.0:0.0:1.0:0.0	.	.	.	.	X	92;166;166	.	ENSP00000420270:W166X	W	+	3	0	UHMK1	160736598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.887000	0.92456	2.854000	0.98071	0.655000	0.94253	TGG	UHMK1	-	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		0.413	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	G	NM_175866		162469974	1	no_errors	ENST00000489294	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	162469974	G	A	162469974	4	1	54	1	0	0	0	0	0	1	0	0	16997	1183	41	1	554	1	UHMK1	1	162469974	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2568631	162469974	86780647	21	7048										
C1orf112	55732	genome.wustl.edu	37	chr1	169806079	169806079	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttatttcagctggagtttatCcagaaattttccccaaaaga	6	8	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:169806079C>T	ENST00000286031.6	+	17	2251	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.I517I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	517										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAGTTTATCCAGAAATTTT	0.388																																																	0													44	44	44					1																	169806079		2203	4300	6503	SO:0001819	synonymous_variant	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1551C>T	1.37:g.169806079C>T			A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	NULL	p.I517	ENST00000286031.6	37	c.1551	CCDS1285.1	1																																																																																			C1orf112	-	NULL		0.388	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169806079	1	no_errors	ENST00000286031	ensembl	human	known	70_37	silent	SNP	1.000	T	T	169806079	C	T	169806079	2	4	54	1	0	0	0	0	0	0	0	1	1990	845	30	1		1	C1orf112	1	169806079	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	7336105	169806079	79444542	22	7049										
SCYL3	57147	genome.wustl.edu	37	chr1	169823722	169823722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tacaaggctaatcttttgggGtaagcttgatttccaaggca	10	7	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:169823722G>A	ENST00000367770.1	-	12	1905	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	SCYL3_ENST00000367772.4_Missense_Mutation_p.P620S|SCYL3_ENST00000367771.6_Missense_Mutation_p.P566S			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	620	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCTTTTGGGGTAAGCTTGAT	0.473																																																	0													102	106	105					1																	169823722		2203	4300	6503	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1858C>T	1.37:g.169823722G>A	ENSP00000356744:p.Pro620Ser		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.P620S	ENST00000367770.1	37	c.1858	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205181	0.22205	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.14640	2.55;2.49;2.55;2.56	5.9	-0.319	0.12725	.	0.719545	0.14608	N	0.309199	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.02;0.001;0.002	B;B;B	0.20184	0.028;0.004;0.003	T	0.47262	-0.9131	10	0.06891	T	0.86	-4.6924	6.9331	0.24451	0.4224:0.1219:0.4557:0.0	.	212;566;620	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	S	620;566;620;566	ENSP00000356746:P620S;ENSP00000356745:P566S;ENSP00000356744:P620S;ENSP00000407993:P566S	ENSP00000356744:P620S	P	-	1	0	SCYL3	168090346	0.002000	0.14202	0.001000	0.08648	0.067000	0.16453	0.096000	0.15147	0.038000	0.15604	-0.143000	0.13931	CCC	SCYL3	-	NULL		0.473	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	G	NM_181093		169823722	-1	no_errors	ENST00000367770	ensembl	human	known	70_37	missense	SNP	0.003	A	A	169823722	G	A	169823722	3	1	54	1	0	0	0	0	1	0	0	0	13979	1261	44	4	378	4	SCYL3	1	169823722	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	17643	169823722	79426899	23	7050										
FMO2	2327	genome.wustl.edu	37	chr1	171165850	171165850	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tctggccaatggaaggttgtCactcagagcaacggcaagga	13	9	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:171165850C>T	ENST00000209929.7	+	4	542	c.384C>T	c.(382-384)gtC>gtT	p.V128V	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Silent_p.V128V|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	128					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAAGGTTGTCACTCAGAGCA	0.458																																																	0													153	127	136					1																	171165850		2203	4300	6503	SO:0001819	synonymous_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.384C>T	1.37:g.171165850C>T			Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.V128	ENST00000209929.7	37	c.384	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase		0.458	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	C	NM_001460		171165850	1	no_errors	ENST00000209929	ensembl	human	known	70_37	silent	SNP	0.001	T	T	171165850	C	T	171165850	2	4	54	1	0	0	0	0	0	0	0	1	5973	813	29	1		1	FMO2	1	171165850	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1342128	171165850	78084771	24	7051										
GPR52	9293	genome.wustl.edu	37	chr1	174417843	174417843	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggtgtgccacgtcttggctCaccagtgcctattttactgg	11	11	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:174417843C>T	ENST00000367685.2	+	1	632	c.594C>T	c.(592-594)ctC>ctT	p.L198L	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	198					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CGTCTTGGCTCACCAGTGCCT	0.433																																					Ovarian(92;924 1390 1930 16467 40583)												0													321	281	295					1																	174417843		2203	4300	6503	SO:0001819	synonymous_variant	9293			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.594C>T	1.37:g.174417843C>T			O75654|Q4VBL6|Q6ISM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L198	ENST00000367685.2	37	c.594	CCDS30941.1	1																																																																																			GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	C	NM_005684		174417843	1	no_errors	ENST00000367685	ensembl	human	known	70_37	silent	SNP	0.982	T	T	174417843	C	T	174417843	2	4	54	1	0	0	0	0	0	0	0	1	6717	813	29	1		1	GPR52	1	174417843	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3251993	174417843	74832778	25	7052										
FAM5B	57795	genome.wustl.edu	37	chr1	177250105	177250105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cccctttgggggcagccactCtgagagctggttcatgcctg	13	13	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:177250105C>G	ENST00000361539.4	+	8	2105	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	598					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GGCAGCCACTCTGAGAGCTGG	0.552																																																	0													57	56	56					1																	177250105		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1793C>G	1.37:g.177250105C>G	ENSP00000354481:p.Ser598Cys		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S598C	ENST00000361539.4	37	c.1793	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579965	0.65992	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.20463	2.07	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.50491	-0.8822	10	0.87932	D	0	-12.8401	18.4386	0.90656	0.0:1.0:0.0:0.0	.	493;598	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	C	351;598	ENSP00000354481:S598C	ENSP00000354481:S598C	S	+	2	0	FAM5B	175516728	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.707000	0.84623	2.443000	0.82685	0.313000	0.20887	TCT	FAM5B	-	NULL		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	C	NM_021165		177250105	1	no_errors	ENST00000361539	ensembl	human	known	70_37	missense	SNP	1.000	G	G	177250105	C	G	177250105	3	3	54	1	0	0	0	0	1	0	0	0	5611	913	32	1	1819	1	FAM5B	1	177250105	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2832262	177250105	72000516	26	7053										
CEP350	9857	genome.wustl.edu	37	chr1	179965887	179965887	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagttgttaggtttttaaatGatcgaccagcaattgatgca	9	6	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:179965887G>A	ENST00000367607.3	+	6	1013	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	199					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTTTTAAATGATCGACCAGC	0.398																																																	0													82	74	77					1																	179965887		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.595G>A	1.37:g.179965887G>A	ENSP00000356579:p.Asp199Asn		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D199N	ENST00000367607.3	37	c.595	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.475900	0.96291	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.17213	2.29;2.29	5.55	5.55	0.83447	.	0.000000	0.49916	D	0.000122	T	0.32941	0.0846	L	0.32530	0.975	0.58432	D	0.999995	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.989;0.998;1.0	T	0.01290	-1.1394	9	.	.	.	.	19.0717	0.93140	0.0:0.0:1.0:0.0	.	199;199;173	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	N	199;173	ENSP00000356579:D199N;ENSP00000435808:D173N	.	D	+	1	0	CEP350	178232510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.593000	0.82686	2.606000	0.88127	0.579000	0.79373	GAT	CEP350	-	NULL		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		179965887	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179965887	G	A	179965887	3	1	54	1	0	0	0	0	1	0	0	0	3259	1290	45	1	613	1	CEP350	1	179965887	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2715782	179965887	69284734	27	7054										
CACNA1E	777	genome.wustl.edu	37	chr1	181453069	181453069	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cccgtccggcagaactgtttCaccgtcaacagatccctgtt	8	15	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:181453069C>T	ENST00000367573.2	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CACNA1E_ENST00000367570.1_Silent_p.F63F|CACNA1E_ENST00000360108.3_Silent_p.F63F|CACNA1E_ENST00000526775.1_Silent_p.F63F|CACNA1E_ENST00000358338.5_Silent_p.F14F|CACNA1E_ENST00000357570.5_Silent_p.F14F|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	63					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)			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						AGAACTGTTTCACCGTCAACA	0.537																																																	0													131	137	135					1																	181453069		1920	4127	6047	SO:0001819	synonymous_variant	777			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.189C>T	1.37:g.181453069C>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.F63	ENST00000367573.2	37	c.189	CCDS55664.1	1																																																																																			CACNA1E	-	NULL		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	C	NM_000721		181453069	1	no_errors	ENST00000367573	ensembl	human	known	70_37	silent	SNP	1.000	T	T	181453069	C	T	181453069	2	4	54	1	0	0	0	0	0	0	0	1	2547	825	29	1		1	CACNA1E	1	181453069	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1487182	181453069	67797552	28	7055										
DHX9	1660	genome.wustl.edu	37	chr1	182812469	182812469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttacactggcatgggaaattCcaccaataaaaaagatgcac	7	9	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:182812469C>A	ENST00000367549.3	+	3	262	c.152C>A	c.(151-153)tCc>tAc	p.S51Y		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	51	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ATGGGAAATTCCACCAATAAA	0.343																																					Colon(69;210 1162 3697 13559 39565)												0													91	85	87					1																	182812469		1813	4069	5882	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.152C>A	1.37:g.182812469C>A	ENSP00000356520:p.Ser51Tyr		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.S51Y	ENST00000367549.3	37	c.152	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789411	0.90367	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.77750	-1.12	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92258	0.5814	10	0.87932	D	0	.	18.8105	0.92056	0.0:1.0:0.0:0.0	.	51	Q08211	DHX9_HUMAN	Y	51	ENSP00000356520:S51Y	ENSP00000356520:S51Y	S	+	2	0	DHX9	181079092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.086000	0.76885	2.805000	0.96524	0.655000	0.94253	TCC	DHX9	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd		0.343	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	C	NM_030588		182812469	1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182812469	C	A	182812469	3	1	54	1	0	0	0	0	1	0	0	0	4526	855	30	3	158	3	DHX9	1	182812469	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1359400	182812469	66438152	29	7056										
HMCN1	83872	genome.wustl.edu	37	chr1	186057774	186057774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggaagttcgtattttgtctgGaggtagcaaactccagattg	12	6	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:186057774G>A	ENST00000271588.4	+	63	9843	c.9614G>A	c.(9613-9615)gGa>gAa	p.G3205E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3205E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3205	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTTTGTCTGGAGGTAGCAAA	0.348																																																	0													49	53	52					1																	186057774		2202	4299	6501	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9614G>A	1.37:g.186057774G>A	ENSP00000271588:p.Gly3205Glu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G3205E	ENST00000271588.4	37	c.9614	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568956	0.86439	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65434	-0.6169	10	0.10377	T	0.69	.	19.1181	0.93350	0.0:0.0:1.0:0.0	.	3205	Q96RW7	HMCN1_HUMAN	E	3205	ENSP00000271588:G3205E;ENSP00000356462:G3205E	ENSP00000271588:G3205E	G	+	2	0	HMCN1	184324397	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.608000	0.82898	2.505000	0.84491	0.650000	0.86243	GGA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186057774	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186057774	G	A	186057774	3	1	54	1	0	0	0	0	1	0	0	0	7240	1174	41	1	9864	1	HMCN1	1	186057774	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3245305	186057774	63192847	30	7057										
KDM5B	10765	genome.wustl.edu	37	chr1	202702961	202702961	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttcccttcattggcgagtctGagagactgcaaggcttccat	10	11	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:202702961G>C	ENST00000367265.3	-	23	4641	c.3477C>G	c.(3475-3477)ctC>ctG	p.L1159L	KDM5B_ENST00000367264.2_Silent_p.L1195L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1159					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGGCGAGTCTGAGAGACTGCA	0.488																																																	0													109	118	115					1																	202702961		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3477C>G	1.37:g.202702961G>C			O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L1159	ENST00000367265.3	37	c.3477	CCDS30974.1	1																																																																																			KDM5B	-	superfamily_Znf_FYVE_PHD		0.488	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	G	NM_006618		202702961	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	0.999	C	C	202702961	G	C	202702961	2	2	54	1	0	0	0	0	0	0	0	1	8154	1277	45	1		1	KDM5B	1	202702961	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	16645187	202702961	46547660	31	7058										
C1orf65	164127	genome.wustl.edu	37	chr1	223567621	223567621	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctggtgctgacccgtctcaaGaaggcccagaggatacggga	14	11	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:223567621G>A	ENST00000366875.3	+	1	907	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		268										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCCGTCTCAAGAAGGCCCAGA	0.642																																																	0													24	25	25					1																	223567621		2202	4300	6502	SO:0001819	synonymous_variant	164127																														ENST00000366875.3:c.804G>A	1.37:g.223567621G>A			Q8N746|Q8NA93	Silent	SNP	NULL	p.K268	ENST00000366875.3	37	c.804	CCDS1537.1	1																																																																																			C1orf65	-	NULL		0.642	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	G			223567621	1	no_errors	ENST00000366875	ensembl	human	known	70_37	silent	SNP	0.586	A	A	223567621	G	A	223567621	2	1	54	1	0	0	0	0	0	0	0	1	2060	933	33	1		1	C1orf65	1	223567621	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	20864660	223567621	25683000	32	7059										
C1orf131	8443	genome.wustl.edu	37	chr1	231374798	231374798	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttgaagaagctcgaagcgctCttcctctggcctcttatgag	10	11	3	3	rs111900716	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:231374798C>T	ENST00000366647.4	+	0	0				C1orf131_ENST00000366651.3_Silent_p.K85K|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_Silent_p.K85K|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000366649.2_Silent_p.K85K	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCGAAGCGCTCTTCCTCTGGC	0.532																																																	0													79	75	76					1																	231374798		2203	4300	6503	SO:0001631	upstream_gene_variant	128061			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374798C>T	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	NULL	p.K85	ENST00000366647.4	37	c.255	CCDS1592.1	1																																																																																			C1orf131	-	NULL		0.532	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	C			231374798	-1	no_errors	ENST00000366649	ensembl	human	known	70_37	silent	SNP	0.993	T	T	231374798	C	T	231374798	1	4	54	0	1	0	0	0	0	0	0	0	2003	912	32	1		1	C1orf131	1	231374798	5'Flank	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	7807177	231374798	17875823	33	7060										
RYR2	6262	genome.wustl.edu	37	chr1	237777871	237777871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acccagttggagggactactGaattcctctttgtacctctc	8	12	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:237777871G>A	ENST00000366574.2	+	37	5760	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1815	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGACTACTGAATTCCTCTT	0.483																																																	0													192	181	184					1																	237777871		1940	4146	6086	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5443G>A	1.37:g.237777871G>A	ENSP00000355533:p.Glu1815Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E1813K	ENST00000366574.2	37	c.5437	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260815	0.80246	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.75367	-0.93;-0.93;-0.93	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	T	0.75339	0.3836	M	0.72894	2.215	0.80722	D	1	B	0.31968	0.349	B	0.28553	0.091	T	0.76389	-0.2977	10	0.72032	D	0.01	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1815	Q92736	RYR2_HUMAN	K	1815;1813;1799	ENSP00000355533:E1815K;ENSP00000353174:E1813K;ENSP00000443798:E1799K	ENSP00000353174:E1813K	E	+	1	0	RYR2	235844494	1.000000	0.71417	0.334000	0.25495	0.988000	0.76386	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GAA	RYR2	-	NULL		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237777871	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237777871	G	A	237777871	3	1	54	1	0	0	0	0	1	0	0	0	13799	1291	45	1	5589	1	RYR2	1	237777871	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	6403073	237777871	11472750	34	7061										
RGS7	6000	genome.wustl.edu	37	chr1	241032132	241032132	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cacttccgggcaaatgctctCtgcagcctggccaggctctc	10	16	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:241032132C>G	ENST00000407727.1	-	7	470	c.471G>C	c.(469-471)caG>caC	p.Q157H	RGS7_ENST00000366562.4_Missense_Mutation_p.Q157H|RGS7_ENST00000401882.1_Missense_Mutation_p.Q104H|RGS7_ENST00000446183.2_Missense_Mutation_p.Q73H|RGS7_ENST00000348120.2_Missense_Mutation_p.Q104H|RGS7_ENST00000366564.1_Missense_Mutation_p.Q157H|RGS7_ENST00000366563.1_Missense_Mutation_p.Q157H|RGS7_ENST00000366565.1_Missense_Mutation_p.Q157H|RGS7_ENST00000331110.7_Missense_Mutation_p.Q131H			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	157					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CAAATGCTCTCTGCAGCCTGG	0.468																																																	0													127	132	130					1																	241032132		2203	4300	6503	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.471G>C	1.37:g.241032132C>G	ENSP00000384428:p.Gln157His		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q157H	ENST00000407727.1	37	c.471		1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520122	0.44866	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.33654	1.42;1.4;1.41;1.4;1.4;1.41;1.41;1.4;1.4	5.85	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.34521	1.04	0.54753	D	0.999982	D;D;D;D;P;B	0.89917	1.0;0.999;0.999;0.987;0.851;0.141	D;D;D;D;P;B	0.91635	0.993;0.998;0.999;0.944;0.803;0.155	T	0.18178	-1.0345	10	0.23891	T	0.37	-11.004	9.0822	0.36558	0.0:0.7777:0.0:0.2223	.	73;131;104;157;157;157	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	H	131;157;157;157;104;73;157;157;104	ENSP00000331485:Q131H;ENSP00000355523:Q157H;ENSP00000355522:Q157H;ENSP00000355521:Q157H;ENSP00000341242:Q104H;ENSP00000390138:Q73H;ENSP00000355520:Q157H;ENSP00000384428:Q157H;ENSP00000385508:Q104H	ENSP00000331485:Q131H	Q	-	3	2	RGS7	239098755	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.687000	0.25407	1.478000	0.48253	0.655000	0.94253	CAG	RGS7	-	NULL		0.468	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		C	NM_002924		241032132	-1	no_errors	ENST00000407727	ensembl	human	known	70_37	missense	SNP	1.000	G	G	241032132	C	G	241032132	3	3	54	1	0	0	0	0	1	0	0	0	13340	912	32	1	1036	1	RGS7	1	241032132	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3254261	241032132	8218489	35	7062										
KIDINS220	57498	genome.wustl.edu	37	chr2	8967125	8967125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cttggtcttacctcatttctCtcatctacatctttgcattt	3	12	6	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:8967125C>T	ENST00000256707.3	-	2	280	c.99G>A	c.(97-99)gaG>gaA	p.E33E	KIDINS220_ENST00000319688.5_Silent_p.E33E|KIDINS220_ENST00000418530.1_5'UTR|KIDINS220_ENST00000473731.1_Silent_p.E33E|KIDINS220_ENST00000427284.1_Silent_p.E33E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	33					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTCATTTCTCTCATCTACAT	0.338																																																	0													141	134	136					2																	8967125		1842	4087	5929	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.99G>A	2.37:g.8967125C>T			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E33	ENST00000256707.3	37	c.99	CCDS42650.1	2																																																																																			KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.338	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8967125	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8967125	C	T	8967125	2	4	54	1	0	0	0	0	0	0	0	1	8291	912	32	1		1	KIDINS220	2	8967125	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		8967125	234232248	36	7063										
KCNS3	3790	genome.wustl.edu	37	chr2	18113402	18113402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aactgtgggctatggagacaCccacccggtcaccttggcgg	13	13	1	1	rs541299086		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:18113402C>A	ENST00000403915.1	+	3	1578	c.1127C>A	c.(1126-1128)aCc>aAc	p.T376N	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T376N	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	376	Segment H5 (pore-forming). {ECO:0000255}.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATGGAGACACCCACCCGGTC	0.557																																																	0													104	92	96					2																	18113402		2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1127C>A	2.37:g.18113402C>A	ENSP00000385968:p.Thr376Asn		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.T376N	ENST00000403915.1	37	c.1127	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459985	0.63401	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97455	-4.39;-4.39	5.86	5.86	0.93980	Ion transport (1);	0.045379	0.85682	D	0.000000	D	0.98254	0.9422	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.98858	1.0761	10	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	376	Q9BQ31	KCNS3_HUMAN	N	376	ENSP00000385968:T376N;ENSP00000305824:T376N	ENSP00000305824:T376N	T	+	2	0	KCNS3	17976883	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.029000	0.70895	2.775000	0.95449	0.655000	0.94253	ACC	KCNS3	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.557	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	C	NM_002252		18113402	1	no_errors	ENST00000304101	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18113402	C	A	18113402	3	1	54	1	0	0	0	0	1	0	0	0	8110	507	18	4	1129	4	KCNS3	2	18113402	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	9146277	18113402	225085971	37	7064										
WDR35	57539	genome.wustl.edu	37	chr2	20113420	20113420	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcacatccagaattgatactCagtgattgggcttcctgtgg	11	9	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:20113420C>A	ENST00000345530.3	-	28	3560	c.3445G>T	c.(3445-3447)Gag>Tag	p.E1149*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.E1138*|WDR35_ENST00000416055.2_Silent_p.L541L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1149					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTGATACTCAGTGATTGGG	0.448																																																	0													180	165	170					2																	20113420		2203	4300	6503	SO:0001587	stop_gained	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3445G>T	2.37:g.20113420C>A	ENSP00000314444:p.Glu1149*		B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1149*	ENST00000345530.3	37	c.3445	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.919848	0.99002	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-27.8158	19.0838	0.93194	0.0:1.0:0.0:0.0	.	.	.	.	X	1149;1138	.	ENSP00000281405:E1138X	E	-	1	0	WDR35	19976901	1.000000	0.71417	0.500000	0.27589	0.882000	0.50991	7.437000	0.80417	2.833000	0.97629	0.655000	0.94253	GAG	WDR35	-	pirsf_WD_repeat_p35		0.448	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	C	NM_020779		20113420	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	20113420	C	A	20113420	4	1	54	1	0	0	0	0	0	1	0	0	17320	835	29	3	104	3	WDR35	2	20113420	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2000018	20113420	223085953	38	7065										
OTOF	9381	genome.wustl.edu	37	chr2	26690260	26690260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcatcaatcttgggtttcttCttctcgggggcctcggaccc	10	13	6	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:26690260C>T	ENST00000272371.2	-	34	4326	c.4200G>A	c.(4198-4200)aaG>aaA	p.K1400K	OTOF_ENST00000403946.3_Silent_p.K1400K|OTOF_ENST00000338581.6_Silent_p.K633K|OTOF_ENST00000402415.3_Silent_p.K710K|OTOF_ENST00000339598.3_Silent_p.K633K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1400					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGTTTCTTCTTCTCGGGGG	0.582																																					GBM(102;732 1451 20652 24062 31372)												0													60	62	61					2																	26690260		2203	4300	6503	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4200G>A	2.37:g.26690260C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K1400	ENST00000272371.2	37	c.4200	CCDS1725.1	2																																																																																			OTOF	-	NULL		0.582	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	C			26690260	-1	no_errors	ENST00000272371	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26690260	C	T	26690260	2	4	54	1	0	0	0	0	0	0	0	1	11327	912	32	1		1	OTOF	2	26690260	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6576840	26690260	216509113	39	7066										
VIT	5212	genome.wustl.edu	37	chr2	36986225	36986225	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgattgaatctaaaccttctGagtccatgaacacgcgacgt	8	10	2	4			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:36986225G>C	ENST00000389975.3	+	6	789				VIT_ENST00000497382.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.E175Q|VIT_ENST00000401530.1_Intron|VIT_ENST00000404084.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TAAACCTTCTGAGTCCATGAA	0.468																																																	0													92	90	91					2																	36986225		2203	4300	6503	SO:0001627	intron_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+36G>C	2.37:g.36986225G>C			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.E175Q	ENST00000389975.3	37	c.523	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	7.619	0.676348	0.14841	.	.	ENSG00000205221	ENST00000457137	D	0.90563	-2.69	4.97	4.07	0.47477	.	.	.	.	.	D	0.83663	0.5303	.	.	.	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.69128	-0.5227	7	.	.	.	.	11.502	0.50444	0.0:0.1815:0.8185:0.0	.	175	Q6UXI7-3	.	Q	175	ENSP00000393561:E175Q	.	E	+	1	0	VIT	36839729	0.000000	0.05858	0.013000	0.15412	0.232000	0.25224	-0.009000	0.12765	1.194000	0.43101	0.555000	0.69702	GAG	VIT	-	NULL		0.468	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		G			36986225	1	no_errors	ENST00000457137	ensembl	human	known	70_37	missense	SNP	0.034	C	C	36986225	G	C	36986225	1	2	54	0	1	0	0	0	0	0	0	0	17202	1291	45	1		1	VIT	2	36986225	Intron	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	10295965	36986225	206213148	40	7067										
SOCS5	9655	genome.wustl.edu	37	chr2	46985885	46985885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caactgggattaagcccttcGaagaattcttcaaggagaaa	9	8	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:46985885G>A	ENST00000306503.5	+	2	388	c.216G>A	c.(214-216)tcG>tcA	p.S72S	SOCS5_ENST00000394861.2_Silent_p.S72S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	72					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAAGCCCTTCGAAGAATTCTT	0.388																																																	0													64	63	64					2																	46985885		2203	4300	6503	SO:0001819	synonymous_variant	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.216G>A	2.37:g.46985885G>A			Q53SD4|Q8IYZ4	Silent	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S72	ENST00000306503.5	37	c.216	CCDS1830.1	2																																																																																			SOCS5	-	NULL		0.388	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	G			46985885	1	no_errors	ENST00000306503	ensembl	human	known	70_37	silent	SNP	0.622	A	A	46985885	G	A	46985885	2	1	54	1	0	0	0	0	0	0	0	1	14947	1045	37	1		1	SOCS5	2	46985885	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	9999660	46985885	196213488	41	7068										
DQX1	165545	genome.wustl.edu	37	chr2	74746333	74746333	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggttaggagaaggtaatttcCagtcccgtctgtgtctctgg	13	8	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:74746333C>A	ENST00000404568.3	-	11	2050	c.1831G>T	c.(1831-1833)Gga>Tga	p.G611*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.G611*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	611						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGTAATTTCCAGTCCCGTCT	0.493																																																	0													81	86	84					2																	74746333		2203	4300	6503	SO:0001587	stop_gained	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1831G>T	2.37:g.74746333C>A	ENSP00000384621:p.Gly611*		Q6B017|Q8NAM8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.G611*	ENST00000404568.3	37	c.1831	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	39	7.407221	0.98265	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.3541	16.7613	0.85513	0.0:1.0:0.0:0.0	.	.	.	.	X	611	.	ENSP00000377523:G611X	G	-	1	0	DQX1	74599841	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.372000	0.79612	2.558000	0.86282	0.655000	0.94253	GGA	DQX1	-	pfam_DUF1605		0.493	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	C	NM_133637		74746333	-1	no_errors	ENST00000393951	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	74746333	C	A	74746333	4	1	54	1	0	0	0	0	0	1	0	0	4761	603	21	4	330	4	DQX1	2	74746333	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	27760448	74746333	168453040	42	7069										
IMMT	10989	genome.wustl.edu	37	chr2	86371573	86371573	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tagctccagatcaccatgctCaatgcaataggaagcatatg	8	10	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:86371573C>G	ENST00000410111.3	-	15	2482	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	IMMT_ENST00000409051.2_Missense_Mutation_p.E652Q|IMMT_ENST00000442664.2_Missense_Mutation_p.E698Q|IMMT_ENST00000254636.5_Missense_Mutation_p.E600Q|IMMT_ENST00000449247.2_Missense_Mutation_p.E688Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	699					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCACCATGCTCAATGCAATAG	0.507																																																	0													98	92	94					2																	86371573		1952	4155	6107	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2095G>C	2.37:g.86371573C>G	ENSP00000387262:p.Glu699Gln		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	pfam_Mt-IM_prot_Mitofilin	p.E699Q	ENST00000410111.3	37	c.2095	CCDS46355.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130479|4.130479	0.77549|0.77549	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73071|.	0.3540|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P;P|.	0.51240|.	0.642;0.943;0.929;0.929;0.898|.	P;P;P;P;P|.	0.60415|.	0.504;0.874;0.8;0.8;0.874|.	T|.	0.69292|.	-0.5183|.	10|.	0.37606|.	T|.	0.19|.	-21.3235|-21.3235	19.4005|19.4005	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	652;687;688;667;699|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	Q|S	600;688;699;698;652;688;667;313;600|553	ENSP00000254636:E600Q;ENSP00000396899:E688Q;ENSP00000387262:E699Q;ENSP00000407788:E698Q;ENSP00000387227:E652Q|.	ENSP00000254636:E600Q|.	E|X	-|-	1|2	0|2	IMMT|IMMT	86225084|86225084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.521000|0.521000	0.34408|0.34408	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAG|TGA	IMMT	-	pfam_Mt-IM_prot_Mitofilin		0.507	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2	C	NM_006839		86371573	-1	no_errors	ENST00000410111	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86371573	C	G	86371573	3	3	54	1	0	0	0	0	1	0	0	0	7738	835	29	1	185	1	IMMT	2	86371573	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	11625240	86371573	156827800	43	7070										
TTL	150465	genome.wustl.edu	37	chr2	113251762	113251762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctggctgagtcctgcacatgGttccctgaatcttatgtgat	10	10	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:113251762G>T	ENST00000233336.6	+	3	470	c.279G>T	c.(277-279)tgG>tgT	p.W93C		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	93	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CCTGCACATGGTTCCCTGAAT	0.478			T	ETV6	ALL																																			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0													83	70	75					2																	113251762		2203	4300	6503	SO:0001583	missense	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.279G>T	2.37:g.113251762G>T	ENSP00000233336:p.Trp93Cys		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.W93C	ENST00000233336.6	37	c.279	CCDS2096.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416230	0.83449	.	.	ENSG00000114999	ENST00000233336	T	0.05513	3.43	5.67	5.67	0.87782	.	0.155416	0.64402	D	0.000011	T	0.23133	0.0559	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.00015	-1.2391	10	0.45353	T	0.12	.	18.9077	0.92469	0.0:0.0:1.0:0.0	.	93	Q8NG68	TTL_HUMAN	C	93	ENSP00000233336:W93C	ENSP00000233336:W93C	W	+	3	0	TTL	112968233	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.131000	0.94446	2.838000	0.97847	0.561000	0.74099	TGG	TTL	-	pfam_Tub_tyr_ligase		0.478	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	G	NM_153712		113251762	1	no_errors	ENST00000233336	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113251762	G	T	113251762	3	4	54	1	0	0	0	0	1	0	0	0	16752	1270	44	4	289	4	TTL	2	113251762	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	26880189	113251762	129947611	44	7071										
CCDC93	54520	genome.wustl.edu	37	chr2	118694294	118694294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttactgtgagaagttctcatGaattgagttcagcagactaa	9	6	2	4			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:118694294G>T	ENST00000376300.2	-	21	1764	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N	CCDC93_ENST00000319432.5_Missense_Mutation_p.H542N|HTR5BP_ENST00000434708.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	543										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AAGTTCTCATGAATTGAGTTC	0.443																																																	0													160	167	164					2																	118694294		2203	4300	6503	SO:0001583	missense	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1627C>A	2.37:g.118694294G>T	ENSP00000365477:p.His543Asn		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.H543N	ENST00000376300.2	37	c.1627	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825739	0.90955	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.68765	-0.35;-0.35	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.61703	1.905	0.58432	D	0.999998	D	0.55605	0.972	P	0.52672	0.706	T	0.68538	-0.5382	10	0.22706	T	0.39	-17.9745	18.3987	0.90509	0.0:0.0:1.0:0.0	.	543	Q567U6	CCD93_HUMAN	N	543;542	ENSP00000365477:H543N;ENSP00000324135:H542N	ENSP00000324135:H542N	H	-	1	0	CCDC93	118410764	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.403000	0.73264	2.785000	0.95823	0.655000	0.94253	CAT	CCDC93	-	NULL		0.443	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	G	NM_019044		118694294	-1	no_errors	ENST00000376300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118694294	G	T	118694294	3	4	54	1	0	0	0	0	1	0	0	0	2877	1290	45	3	284	3	CCDC93	2	118694294	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5442532	118694294	124505079	45	7072										
CLASP1	23332	genome.wustl.edu	37	chr2	122159170	122159170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cttaagtaattgtgtgagaaGaacaaaaagccagtcttgta	9	5	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:122159170G>A	ENST00000263710.4	-	28	3204	c.2815C>T	c.(2815-2817)Ctt>Ttt	p.L939F	CLASP1_ENST00000455322.2_Missense_Mutation_p.L934F|CLASP1_ENST00000409078.3_Missense_Mutation_p.L911F|CLASP1_ENST00000541859.1_Missense_Mutation_p.L695F|CLASP1_ENST00000545861.1_Missense_Mutation_p.L685F|CLASP1_ENST00000397587.3_Missense_Mutation_p.L918F|CLASP1_ENST00000541377.1_Missense_Mutation_p.L917F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	939					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)			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)					TGTGTGAGAAGAACAAAAAGC	0.348																																																	0													162	158	159					2																	122159170		1820	4086	5906	SO:0001583	missense	23332			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.2815C>T	2.37:g.122159170G>A	ENSP00000263710:p.Leu939Phe		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L939F	ENST00000263710.4	37	c.2815		2	.	.	.	.	.	.	.	.	.	.	G	32	5.119041	0.94385	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.972	D	0.85738	0.1335	10	0.87932	D	0	-5.4087	20.0006	0.97406	0.0:0.0:1.0:0.0	.	911;918;939	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	F	939;934;918;917;695;911;685	ENSP00000263710:L939F;ENSP00000389372:L934F;ENSP00000380717:L918F;ENSP00000441625:L917F;ENSP00000441770:L695F;ENSP00000386442:L911F;ENSP00000438620:L685F	ENSP00000263710:L939F	L	-	1	0	CLASP1	121875640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.734000	0.93682	0.591000	0.81541	CTT	CLASP1	-	superfamily_ARM-type_fold		0.348	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		G	NM_015282		122159170	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122159170	G	A	122159170	3	1	54	1	0	0	0	0	1	0	0	0	3459	942	33	1	1853	1	CLASP1	2	122159170	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3464876	122159170	121040203	46	7073										
TNFAIP6	7130	genome.wustl.edu	37	chr2	152226605	152226605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caggcttcccaaatgagtacGaagataaccaaatctgctac	7	11	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:152226605G>A	ENST00000243347.3	+	4	541	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AAATGAGTACGAAGATAACCA	0.388																																																	0													153	153	153					2																	152226605		2203	4300	6503	SO:0001583	missense	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.466G>A	2.37:g.152226605G>A	ENSP00000243347:p.Glu156Lys		Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.E156K	ENST00000243347.3	37	c.466	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466654	0.26335	.	.	ENSG00000123610	ENST00000243347	T	0.28069	1.63	5.49	5.49	0.81192	CUB (5);	0.268996	0.41823	D	0.000805	T	0.26122	0.0637	N	0.17872	0.535	0.42002	D	0.990891	B	0.21309	0.054	B	0.23716	0.048	T	0.05338	-1.0891	10	0.54805	T	0.06	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	156	P98066	TSG6_HUMAN	K	156	ENSP00000243347:E156K	ENSP00000243347:E156K	E	+	1	0	TNFAIP6	151934851	1.000000	0.71417	0.961000	0.40146	0.863000	0.49368	4.803000	0.62546	2.563000	0.86464	0.555000	0.69702	GAA	TNFAIP6	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.388	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	G	NM_007115		152226605	1	no_errors	ENST00000243347	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152226605	G	A	152226605	3	1	54	1	0	0	0	0	1	0	0	0	16305	1059	37	1	480	1	TNFAIP6	2	152226605	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	30067435	152226605	90972768	47	7074										
PKP4	8502	genome.wustl.edu	37	chr2	159477761	159477761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggatcattgggtaactcaaGaagttcaacacaaatgaatt	8	6	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:159477761G>A	ENST00000389759.3	+	6	543	c.431G>A	c.(430-432)aGa>aAa	p.R144K	PKP4_ENST00000389757.3_Missense_Mutation_p.R144K	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	144					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGTAACTCAAGAAGTTCAACA	0.393										HNSCC(62;0.18)																																							0													95	91	93					2																	159477761		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.431G>A	2.37:g.159477761G>A	ENSP00000374409:p.Arg144Lys		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R144K	ENST00000389759.3	37	c.431	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931942	0.73442	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.73575	-0.75;-0.76	5.91	5.91	0.95273	.	0.389348	0.28062	N	0.016745	T	0.70684	0.3252	L	0.40543	1.245	0.49582	D	0.999805	P;P	0.39665	0.629;0.682	B;B	0.38296	0.27;0.2	T	0.71797	-0.4484	10	0.52906	T	0.07	-13.0474	20.2936	0.98544	0.0:0.0:1.0:0.0	.	144;144	Q99569-2;Q99569	.;PKP4_HUMAN	K	144	ENSP00000374407:R144K;ENSP00000374409:R144K	ENSP00000374407:R144K	R	+	2	0	PKP4	159186007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.780000	0.68956	2.801000	0.96364	0.655000	0.94253	AGA	PKP4	-	NULL		0.393	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	G			159477761	1	no_errors	ENST00000389759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	159477761	G	A	159477761	3	1	54	1	0	0	0	0	1	0	0	0	12011	942	33	1	449	1	PKP4	2	159477761	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	7251156	159477761	83721612	48	7075										
SLC4A10	57282	genome.wustl.edu	37	chr2	162661046	162661046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcatcgtggtcataaacacaGaaagagagacagagaaagag	12	6	1	5			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:162661046G>A	ENST00000446997.1	+	3	311	c.218G>A	c.(217-219)aGa>aAa	p.R73K	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R73K|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R84K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R73K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R73K|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R73K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	73					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CATAAACACAGAAAGAGAGAC	0.403																																																	0													90	95	93					2																	162661046		1904	4121	6025	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.218G>A	2.37:g.162661046G>A	ENSP00000393066:p.Arg73Lys		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R73K	ENST00000446997.1	37	c.218	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099338	0.56183	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.79141	-1.23;-1.23;0.59;-1.23;-1.24;-1.24	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	L	0.35487	1.065	0.48975	D	0.999733	B;B;B;B	0.31752	0.338;0.002;0.338;0.002	B;B;B;B	0.42030	0.373;0.006;0.373;0.005	T	0.67333	-0.5697	10	0.10902	T	0.67	.	19.4529	0.94875	0.0:0.0:1.0:0.0	.	84;73;73;73	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	84;73;73;73;73;73;73;73	ENSP00000364664:R84K;ENSP00000395797:R73K;ENSP00000437527:R73K;ENSP00000272716:R73K;ENSP00000393066:R73K;ENSP00000404486:R73K	ENSP00000272716:R73K	R	+	2	0	SLC4A10	162369292	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.361000	0.90098	2.685000	0.91497	0.455000	0.32223	AGA	SLC4A10	-	NULL		0.403	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162661046	1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	1.000	A	A	162661046	G	A	162661046	3	1	54	1	0	0	0	0	1	0	0	0	14681	942	33	1	313	1	SLC4A10	2	162661046	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3183285	162661046	80538327	49	7076										
STK39	27347	genome.wustl.edu	37	chr2	169023878	169023878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agaggtgtaataggtcactaCgttgggatggctgcactgac	14	7	1	2	rs199693195		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:169023878C>A	ENST00000355999.4	-	3	1066	c.361G>T	c.(361-363)Gta>Tta	p.V121L		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TAGGTCACTACGTTGGGATGG	0.378																																																	0													110	104	106					2																	169023878		1975	4187	6162	SO:0001583	missense	27347			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"STE20/SPS1 homolog (yeast)"	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.361G>T	2.37:g.169023878C>A	ENSP00000348278:p.Val121Leu		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V121L	ENST00000355999.4	37	c.361	CCDS42770.1	2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484686	0.63962	.	.	ENSG00000198648	ENST00000355999	T	0.22539	1.95	5.91	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.245511	0.41712	D	0.000836	T	0.19127	0.0459	N	0.25890	0.77	0.52099	D	0.999943	P	0.45044	0.849	P	0.47402	0.546	T	0.01702	-1.1292	10	0.49607	T	0.09	-12.8504	8.6246	0.33881	0.0:0.7026:0.0:0.2974	.	121	Q9UEW8	STK39_HUMAN	L	121	ENSP00000348278:V121L	ENSP00000348278:V121L	V	-	1	0	STK39	168732124	0.992000	0.36948	0.998000	0.56505	0.965000	0.64279	1.362000	0.34148	0.782000	0.33613	0.655000	0.94253	GTA	STK39	-	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		0.378	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	C	NM_013233		169023878	-1	no_errors	ENST00000355999	ensembl	human	known	70_37	missense	SNP	0.977	A	A	169023878	C	A	169023878	3	1	54	1	0	0	0	0	1	0	0	0	15335	536	19	2	1340	2	STK39	2	169023878	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6362832	169023878	74175495	50	7077										
TTN	7273	genome.wustl.edu	37	chr2	179408347	179408347	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttatagtcacagaatctcttGatacttccttaactttcact	3	10	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:179408347G>C	ENST00000591111.1	-	297	91654	c.91430C>G	c.(91429-91431)tCa>tGa	p.S30477*	TTN_ENST00000342175.6_Nonsense_Mutation_p.S23245*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S32118*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S29550*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S23178*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S23053*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30477	Fibronectin type-III 122. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATCTCTTGATACTTCCTT	0.393																																																	0													44	39	41					2																	179408347		1864	4102	5966	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91430C>G	2.37:g.179408347G>C	ENSP00000465570:p.Ser30477*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S29550*	ENST00000591111.1	37	c.88649		2	.	.	.	.	.	.	.	.	.	.	G	68	105.495268	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	29550;23053;23245;23178;23050	.	ENSP00000340554:S23245X	S	-	2	0	TTN	179116593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	TCA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179408347	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	179408347	G	C	179408347	4	2	54	1	0	0	0	0	0	1	0	0	16766	1294	45	1	11690	1	TTN	2	179408347	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	10384469	179408347	63791026	51	7078										
SATB2	23314	genome.wustl.edu	37	chr2	200173588	200173588	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctctcatgctggggaaggttCaggaagcgacggatggtaca	15	8	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:200173588C>A	ENST00000417098.1	-	10	2451	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	SATB2_ENST00000443023.1_Silent_p.L486L|SATB2_ENST00000457245.1_Silent_p.L545L|SATB2_ENST00000428695.1_Silent_p.L427L|SATB2_ENST00000260926.5_Silent_p.L545L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	545					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGGAAGGTTCAGGAAGCGAC	0.582																																					Colon(30;262 767 11040 24421 36230)												0													163	129	141					2																	200173588		2203	4300	6503	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1635G>T	2.37:g.200173588C>A			A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L545	ENST00000417098.1	37	c.1635	CCDS2327.1	2																																																																																			SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT		0.582	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	C	NM_015265		200173588	-1	no_errors	ENST00000260926	ensembl	human	known	70_37	silent	SNP	1.000	A	A	200173588	C	A	200173588	2	1	54	1	0	0	0	0	0	0	0	1	13884	813	29	3		3	SATB2	2	200173588	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	20765241	200173588	43025785	52	7079										
LANCL1	10314	genome.wustl.edu	37	chr2	211302514	211302514	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tacatggagggtaattgccaGaagggaatttcagctggcag	14	6	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:211302514G>A	ENST00000443314.1	-	6	1115	c.773C>T	c.(772-774)tCt>tTt	p.S258F	LANCL1_ENST00000450366.2_Missense_Mutation_p.S258F|LANCL1_ENST00000233714.4_Missense_Mutation_p.S258F|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.S258F|LANCL1_ENST00000431941.2_Missense_Mutation_p.S258F|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	258					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GTAATTGCCAGAAGGGAATTT	0.483																																																	0													94	88	90					2																	211302514		2203	4300	6503	SO:0001583	missense	10314			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.773C>T	2.37:g.211302514G>A	ENSP00000388713:p.Ser258Phe			Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.S258F	ENST00000443314.1	37	c.773	CCDS2392.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485499	0.84854	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.62	4.73	0.59995	Six-hairpin glycosidase-like (1);	0.109676	0.64402	D	0.000005	T	0.75953	0.3920	H	0.94734	3.575	0.52501	D	0.999953	D	0.89917	1.0	D	0.70716	0.97	T	0.82997	-0.0179	10	0.87932	D	0	.	14.9156	0.70795	0.0699:0.0:0.9301:0.0	.	258	O43813	LANC1_HUMAN	F	258	ENSP00000388713:S258F;ENSP00000393323:S258F;ENSP00000393597:S258F;ENSP00000233714:S258F;ENSP00000397646:S258F	ENSP00000233714:S258F	S	-	2	0	LANCL1	211010759	1.000000	0.71417	0.969000	0.41365	0.876000	0.50452	7.642000	0.83385	2.640000	0.89533	0.591000	0.81541	TCT	LANCL1	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk		0.483	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	G	NM_006055		211302514	-1	no_errors	ENST00000233714	ensembl	human	known	70_37	missense	SNP	0.997	A	A	211302514	G	A	211302514	3	1	54	1	0	0	0	0	1	0	0	0	8640	942	33	1	442	1	LANCL1	2	211302514	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	11128926	211302514	31896859	53	7080										
PTPRN	5798	genome.wustl.edu	37	chr2	220161732	220161732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggaagtcaggatgccggttCtttttgatgttgccctcccc	11	11	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:220161732C>G	ENST00000295718.2	-	15	2451	c.2211G>C	c.(2209-2211)aaG>aaC	p.K737N	PTPRN_ENST00000423636.2_Missense_Mutation_p.K647N|PTPRN_ENST00000409251.3_Missense_Mutation_p.K708N|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	737	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGCCGGTTCTTTTTGATGT	0.642																																																	0													126	132	130					2																	220161732		2203	4300	6503	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2211G>C	2.37:g.220161732C>G	ENSP00000295718:p.Lys737Asn		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K737N	ENST00000295718.2	37	c.2211	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376336	0.61735	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.21543	2.0;2.0;2.0	4.31	4.31	0.51392	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.066221	0.64402	D	0.000019	T	0.57272	0.2042	H	0.95982	3.75	0.51233	D	0.999919	D;D	0.89917	0.999;1.0	D;D	0.85130	0.992;0.997	T	0.69558	-0.5113	10	0.87932	D	0	.	11.249	0.49015	0.0:0.9098:0.0:0.0902	.	708;737	Q6NSL1;Q16849	.;PTPRN_HUMAN	N	708;737;708;647	ENSP00000386638:K708N;ENSP00000295718:K737N;ENSP00000444244:K647N	ENSP00000295718:K737N	K	-	3	2	PTPRN	219869976	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.477000	0.53151	2.224000	0.72417	0.462000	0.41574	AAG	PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.642	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	C			220161732	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	missense	SNP	1.000	G	G	220161732	C	G	220161732	3	3	54	1	0	0	0	0	1	0	0	0	12837	912	32	1	764	1	PTPRN	2	220161732	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	8859218	220161732	23037641	54	7081										
SLC19A3	80704	genome.wustl.edu	37	chr2	228552884	228552884	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agaagtattgcagcttacctGaatgctgactggcaagttga	11	7	0	4			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:228552884G>A	ENST00000258403.3	-	5	1383	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.Q434*|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	438					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCTTACCTGAATGCTGACT	0.383																																																	0													141	128	133					2																	228552884		2203	4300	6503	SO:0001587	stop_gained	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1312C>T	2.37:g.228552884G>A	ENSP00000258403:p.Gln438*			Nonsense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.Q438*	ENST00000258403.3	37	c.1312	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.673914	0.97751	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	.	.	.	5.44	5.44	0.79542	.	0.173233	0.44097	D	0.000484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.9469	19.454	0.94880	0.0:0.0:1.0:0.0	.	.	.	.	X	438;434	.	ENSP00000258403:Q438X	Q	-	1	0	SLC19A3	228261128	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.545000	0.90657	2.831000	0.97527	0.650000	0.86243	CAG	SLC19A3	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.383	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	G			228552884	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	228552884	G	A	228552884	4	1	54	1	0	0	0	0	0	1	0	0	14460	1299	45	1	186	1	SLC19A3	2	228552884	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	8391152	228552884	14646489	55	7082										
ECEL1	9427	genome.wustl.edu	37	chr2	233348763	233348763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtacaaagagggcgccaagcGccatgccaaagtggcgattg	14	10	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:233348763G>A	ENST00000304546.1	-	7	1565	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A452V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	452					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCGCCAAGCGCCATGCCAAA	0.612																																																	0													87	93	91					2																	233348763		2203	4300	6503	SO:0001583	missense	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1355C>T	2.37:g.233348763G>A	ENSP00000302051:p.Ala452Val		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A452V	ENST00000304546.1	37	c.1355	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998430	0.74818	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.78707	-1.2;-1.2	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	M	0.80183	2.485	0.80722	D	1	P;D	0.57571	0.827;0.98	B;P	0.44897	0.271;0.463	D	0.86040	0.1519	10	0.87932	D	0	-34.9223	19.0163	0.92896	0.0:0.0:1.0:0.0	.	452;452	O95672-2;O95672	.;ECEL1_HUMAN	V	452	ENSP00000302051:A452V;ENSP00000386333:A452V	ENSP00000302051:A452V	A	-	2	0	ECEL1	233057007	1.000000	0.71417	0.953000	0.39169	0.381000	0.30169	8.062000	0.89475	2.503000	0.84419	0.557000	0.71058	GCG	ECEL1	-	pfam_Peptidase_M13_N		0.612	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	G	NM_004826		233348763	-1	no_errors	ENST00000304546	ensembl	human	known	70_37	missense	SNP	0.999	A	A	233348763	G	A	233348763	3	1	54	1	0	0	0	0	1	0	0	0	4901	1087	38	2	1020	2	ECEL1	2	233348763	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4795879	233348763	9850610	56	7083										
GBX2	2637	genome.wustl.edu	37	chr2	237074658	237074658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cttagggttccgggagggctCccctgtcttggaattggcat	14	10	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:237074658C>T	ENST00000306318.4	-	2	1343	c.946G>A	c.(946-948)Gag>Aag	p.E316K	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	316					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGGGAGGGCTCCCCTGTCTTG	0.592																																																	0													129	117	121					2																	237074658		2203	4300	6503	SO:0001583	missense	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.946G>A	2.37:g.237074658C>T	ENSP00000302251:p.Glu316Lys		B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E316K	ENST00000306318.4	37	c.946	CCDS2515.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.487875	0.96323	.	.	ENSG00000168505	ENST00000306318	D	0.91740	-2.9	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	L	0.54323	1.7	0.80722	D	1	P	0.51933	0.949	P	0.55222	0.771	D	0.93972	0.7250	10	0.54805	T	0.06	-18.6999	17.5569	0.87894	0.0:1.0:0.0:0.0	.	316	P52951	GBX2_HUMAN	K	316	ENSP00000302251:E316K	ENSP00000302251:E316K	E	-	1	0	GBX2	236739397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.692000	0.84203	2.133000	0.65898	0.561000	0.74099	GAG	GBX2	-	NULL		0.592	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	C	NM_001485		237074658	-1	no_errors	ENST00000306318	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237074658	C	T	237074658	3	4	54	1	0	0	0	0	1	0	0	0	6300	864	30	1	104	1	GBX2	2	237074658	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3725895	237074658	6124715	57	7084										
ESPNL	339768	genome.wustl.edu	37	chr2	239040199	239040199	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagtcaggtctgaccctgctCgggcccctgcctcacgccgc	11	18	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:239040199C>T	ENST00000343063.3	+	9	3107	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	ESPNL_ENST00000409506.1_Silent_p.L580L|ESPNL_ENST00000409169.1_Silent_p.L904L|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	948										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGACCCTGCTCGGGCCCCTGC	0.697																																																	0													13	15	14					2																	239040199		2193	4287	6480	SO:0001819	synonymous_variant	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2844C>T	2.37:g.239040199C>T			Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L948	ENST00000343063.3	37	c.2844	CCDS2525.1	2																																																																																			ESPNL	-	NULL		0.697	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2	C	NM_194312		239040199	1	no_errors	ENST00000343063	ensembl	human	known	70_37	silent	SNP	0.000	T	T	239040199	C	T	239040199	2	4	54	1	0	0	0	0	0	0	0	1	5267	871	31	1		1	ESPNL	2	239040199	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1965541	239040199	4159174	58	7085										
GAL3ST2	64090	genome.wustl.edu	37	chr2	242742869	242742869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aacctacgcccccgccttccGgggcgccccgagcctggacg	12	20	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:242742869G>A	ENST00000192314.6	+	4	616	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	162					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCCGCCTTCCGGGGCGCCCCG	0.607																																																	0													29	31	30					2																	242742869		2202	4298	6500	SO:0001583	missense	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.485G>A	2.37:g.242742869G>A	ENSP00000192314:p.Arg162Gln		Q17RK0|Q57Z52	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R162Q	ENST00000192314.6	37	c.485	CCDS33427.1	2	.	.	.	.	.	.	.	.	.	.	G	6.107	0.388083	0.11581	.	.	ENSG00000154252	ENST00000192314	T	0.17054	2.3	3.86	-2.89	0.05665	.	1.159560	0.06386	N	0.716150	T	0.08133	0.0203	N	0.16567	0.415	0.09310	N	1	B	0.13145	0.007	B	0.17722	0.019	T	0.38520	-0.9657	10	0.14252	T	0.57	-21.2259	3.2922	0.06953	0.3542:0.1038:0.4353:0.1068	.	162	Q9H3Q3	G3ST2_HUMAN	Q	162	ENSP00000192314:R162Q	ENSP00000192314:R162Q	R	+	2	0	GAL3ST2	242391542	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.375000	0.07475	-0.893000	0.03930	-2.157000	0.00329	CGG	GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase		0.607	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	G	NM_022134		242742869	1	no_errors	ENST00000192314	ensembl	human	known	70_37	missense	SNP	0.000	A	A	242742869	G	A	242742869	3	1	54	1	0	0	0	0	1	0	0	0	6217	1116	39	2	499	2	GAL3ST2	2	242742869	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3702670	242742869	456504	59	7086										
TOP2B	7155	genome.wustl.edu	37	chr3	25666254	25666254	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcacgtttatcattcctcttGaaacaggtaaataaaacttt	4	8	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:25666254G>C	ENST00000264331.4	-	19	2264	c.2265C>G	c.(2263-2265)ttC>ttG	p.F755L	TOP2B_ENST00000435706.2_Missense_Mutation_p.F750L	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	755					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATTCCTCTTGAAACAGGTAA	0.373																																																	0													60	57	58					3																	25666254		1838	4095	5933	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2265C>G	3.37:g.25666254G>C	ENSP00000264331:p.Phe755Leu		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.F755L	ENST00000264331.4	37	c.2265		3	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468627	0.43839	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44881	0.91;0.91	5.44	0.431	0.16523	.	0.158317	0.56097	D	0.000022	T	0.26629	0.0651	L	0.33189	0.99	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.04454	-1.0950	10	0.48119	T	0.1	-0.0577	5.5936	0.17315	0.4638:0.1395:0.3966:0.0	.	750	Q02880-2	.	L	750;755;750	ENSP00000396704:F750L;ENSP00000264331:F755L	ENSP00000264331:F755L	F	-	3	2	TOP2B	25641258	0.615000	0.27026	0.998000	0.56505	0.999000	0.98932	-0.116000	0.10724	0.075000	0.16796	0.650000	0.86243	TTC	TOP2B	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C		0.373	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		G			25666254	-1	no_errors	ENST00000264331	ensembl	human	known	70_37	missense	SNP	0.946	C	C	25666254	G	C	25666254	3	2	54	1	0	0	0	0	1	0	0	0	16397	1281	45	1	2687	1	TOP2B	3	25666254	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		25666254	172356176	60	7087										
ZNF445	353274	genome.wustl.edu	37	chr3	44488964	44488964	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccgccctcaggttttcttttCatggcatgcttcttcttatg	7	12	5	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:44488964C>T	ENST00000396077.2	-	8	2546	c.2199G>A	c.(2197-2199)atG>atA	p.M733I	ZNF445_ENST00000425708.2_Missense_Mutation_p.M733I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	733					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTTTTCTTTTCATGGCATGCT	0.473																																																	0													97	100	99					3																	44488964		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2199G>A	3.37:g.44488964C>T	ENSP00000379387:p.Met733Ile		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.M733I	ENST00000396077.2	37	c.2199	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	c	1.834	-0.469195	0.04445	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05258	3.47;3.47	3.49	-6.97	0.01616	Zinc finger, C2H2 (1);	1.590600	0.03363	N	0.197808	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	10	0.42905	T	0.14	.	5.9143	0.19045	0.1161:0.482:0.3103:0.0917	.	721;733	B7ZKX2;P59923	.;ZN445_HUMAN	I	733	ENSP00000413073:M733I;ENSP00000379387:M733I	ENSP00000379387:M733I	M	-	3	0	ZNF445	44463968	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-1.734000	0.01848	-3.445000	0.00162	0.306000	0.20318	ATG	ZNF445	-	pfscan_Znf_C2H2		0.473	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	C	NM_181489		44488964	-1	no_errors	ENST00000396077	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44488964	C	T	44488964	3	4	54	1	0	0	0	0	1	0	0	0	17948	826	29	1	900	1	ZNF445	3	44488964	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	18822710	44488964	153533466	61	7088										
PLXNB1	5364	genome.wustl.edu	37	chr3	48463769	48463769	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggtcatgacatacaggtgctCaaaggtcccatcaaaggtga	11	9	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:48463769C>T	ENST00000358536.4	-	5	1659	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E464K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E464K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E464K|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	464	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACAGGTGCTCAAAGGTCCCA	0.612																																																	0													41	37	38					3																	48463769		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1390G>A	3.37:g.48463769C>T	ENSP00000351338:p.Glu464Lys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E464K	ENST00000358536.4	37	c.1390	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573267	0.45902	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.69	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.182176	0.47455	N	0.000228	T	0.02970	0.0088	N	0.22421	0.69	0.80722	D	1	B;B	0.30914	0.002;0.3	B;B	0.22880	0.002;0.042	T	0.42515	-0.9447	10	0.07644	T	0.81	.	10.0695	0.42324	0.0:0.8482:0.0:0.1518	.	464;464	O43157;O43157-2	PLXB1_HUMAN;.	K	464	ENSP00000296440:E464K;ENSP00000351242:E464K;ENSP00000351338:E464K;ENSP00000414199:E464K	ENSP00000296440:E464K	E	-	1	0	PLXNB1	48438773	0.984000	0.35163	0.957000	0.39632	0.982000	0.71751	2.080000	0.41586	1.433000	0.47394	0.650000	0.86243	GAG	PLXNB1	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48463769	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.993	T	T	48463769	C	T	48463769	3	4	54	1	0	0	0	0	1	0	0	0	12147	835	29	1	5153	1	PLXNB1	3	48463769	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3974805	48463769	149558661	62	7089										
ARIH2	10425	genome.wustl.edu	37	chr3	49006070	49006070	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagaaatacaggcgctacctCttcagggactatgtggaggt	13	8	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:49006070C>T	ENST00000356401.4	+	7	981	c.642C>T	c.(640-642)ctC>ctT	p.L214L	ARIH2_ENST00000449376.1_Silent_p.L214L|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	214					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGCGCTACCTCTTCAGGGACT	0.502																																																	0													157	154	155					3																	49006070		2203	4300	6503	SO:0001819	synonymous_variant	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.642C>T	3.37:g.49006070C>T			Q9HBZ6|Q9UEM9	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.L214	ENST00000356401.4	37	c.642	CCDS2780.1	3																																																																																			ARIH2	-	pfam_Znf_C6HC,smart_Znf_C6HC		0.502	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	C	NM_006321		49006070	1	no_errors	ENST00000356401	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49006070	C	T	49006070	2	4	54	1	0	0	0	0	0	0	0	1	924	900	32	1		1	ARIH2	3	49006070	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	542301	49006070	149016360	63	7090										
STAB1	23166	genome.wustl.edu	37	chr3	52538552	52538552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atccgtctcctccttctcctCcaggaccatgaatgtaagcc	6	16	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:52538552C>G	ENST00000321725.6	+	11	1302	c.1226C>G	c.(1225-1227)tCc>tGc	p.S409C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	409	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTTCTCCTCCAGGACCATG	0.647																																																	0													81	78	79					3																	52538552		2203	4299	6502	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1226C>G	3.37:g.52538552C>G	ENSP00000312946:p.Ser409Cys		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S409C	ENST00000321725.6	37	c.1226	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027390	0.54683	.	.	ENSG00000010327	ENST00000321725	T	0.72835	-0.69	4.6	3.65	0.41850	FAS1 domain (4);	1.023870	0.07755	N	0.949213	T	0.79857	0.4518	M	0.65975	2.015	0.09310	N	1	P;D	0.67145	0.937;0.996	P;P	0.59288	0.716;0.855	T	0.65701	-0.6104	10	0.62326	D	0.03	.	10.1112	0.42563	0.0:0.7961:0.2039:0.0	.	409;409	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	C	409	ENSP00000312946:S409C	ENSP00000312946:S409C	S	+	2	0	STAB1	52513592	0.001000	0.12720	0.595000	0.28798	0.792000	0.44763	0.676000	0.25247	2.284000	0.76573	0.561000	0.74099	TCC	STAB1	-	superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	C	NM_015136		52538552	1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.218	G	G	52538552	C	G	52538552	3	3	54	1	0	0	0	0	1	0	0	0	15267	855	30	1	1268	1	STAB1	3	52538552	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3532482	52538552	145483878	64	7091										
CACNA2D3	55799	genome.wustl.edu	37	chr3	54604082	54604082	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tatcgcgaagcaaacagtctCatccattttggatacacttg	7	10	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:54604082C>G	ENST00000474759.1	+	8	887	c.839C>G	c.(838-840)tCa>tGa	p.S280*	CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.S280*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.S280*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.S186*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	280	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CAAACAGTCTCATCCATTTTG	0.448																																																	0													215	206	209					3																	54604082		2026	4191	6217	SO:0001587	stop_gained	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.839C>G	3.37:g.54604082C>G	ENSP00000419101:p.Ser280*		B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S280*	ENST00000474759.1	37	c.839	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.338336	0.97485	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	15.0641	0.71980	0.0:0.8585:0.1415:0.0	.	.	.	.	X	280;280;280;186;186;185	.	ENSP00000288197:S280X	S	+	2	0	CACNA2D3	54579122	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	5.911000	0.69939	2.701000	0.92244	0.644000	0.83932	TCA	CACNA2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			54604082	1	no_errors	ENST00000288197	ensembl	human	known	70_37	nonsense	SNP	0.813	G	G	54604082	C	G	54604082	4	3	54	1	0	0	0	0	0	1	0	0	2555	838	29	1	869	1	CACNA2D3	3	54604082	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2065530	54604082	143418348	65	7092										
CADPS	8618	genome.wustl.edu	37	chr3	62385197	62385197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagacggttccggatcgtttCataggtcttgctgtttaagg	13	7	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:62385197C>G	ENST00000383710.4	-	30	4295	c.3946G>C	c.(3946-3948)Gaa>Caa	p.E1316Q	CADPS_ENST00000357948.3_Missense_Mutation_p.E1237Q|CADPS_ENST00000283269.9_Missense_Mutation_p.E1277Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1316	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGGATCGTTTCATAGGTCTTG	0.498																																																	0													174	153	160					3																	62385197		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3946G>C	3.37:g.62385197C>G	ENSP00000373215:p.Glu1316Gln		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1316Q	ENST00000383710.4	37	c.3946	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.712|2.712	-0.268485|-0.268485	0.05716|0.05716	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.114745|.	0.64402|.	D|.	0.000017|.	T|T	0.53786|0.53786	0.1818|0.1818	N|N	0.16233|0.16233	0.39|0.39	0.80722|0.80722	D|D	1|1	B;B;P;B|.	0.47106|.	0.078;0.449;0.89;0.057|.	B;B;B;B|.	0.37888|.	0.055;0.26;0.202;0.037|.	T|T	0.45818|0.45818	-0.9235|-0.9235	10|5	0.02654|.	T|.	1|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1237;1277;1316;1321|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	Q|I	1322;1316;1237;1277|307	ENSP00000373215:E1316Q;ENSP00000350632:E1237Q;ENSP00000283269:E1277Q|.	ENSP00000283269:E1277Q|.	E|M	-|-	1|3	0|0	CADPS|CADPS	62360237|62360237	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.305000|0.305000	0.27757|0.27757	7.487000|7.487000	0.81328|0.81328	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAA|ATG	CADPS	-	NULL		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62385197	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62385197	C	G	62385197	3	3	54	1	0	0	0	0	1	0	0	0	2575	835	29	1	119	1	CADPS	3	62385197	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	7781115	62385197	135637233	66	7093										
CBLB	868	genome.wustl.edu	37	chr3	105397350	105397350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggttttgaatgttcaatgaGactatgccttgcaggaggtg	13	5	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:105397350G>A	ENST00000264122.4	-	17	2815	c.2494C>T	c.(2494-2496)Ctc>Ttc	p.L832F	CBLB_ENST00000407712.1_Missense_Mutation_p.L47F|CBLB_ENST00000394027.3_Missense_Mutation_p.L810F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	832	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCAATGAGACTATGCCTT	0.493			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													77	76	76					3																	105397350		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2494C>T	3.37:g.105397350G>A	ENSP00000264122:p.Leu832Phe		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.L832F	ENST00000264122.4	37	c.2494	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158582	0.38119	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;D;T;D	0.86097	-1.1;-2.07;-1.13;-1.82	5.94	5.07	0.68467	.	0.280773	0.41194	D	0.000934	T	0.72112	0.3420	N	0.08118	0	0.80722	D	1	B;B;B	0.29085	0.232;0.0;0.001	B;B;B	0.30179	0.112;0.001;0.002	T	0.72789	-0.4187	10	0.87932	D	0	-9.7712	11.309	0.49353	0.0:0.2373:0.6253:0.1374	.	810;832;810	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	F	171;832;47;810	ENSP00000377598:L171F;ENSP00000264122:L832F;ENSP00000384170:L47F;ENSP00000377595:L810F	ENSP00000264122:L832F	L	-	1	0	CBLB	106880040	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.131000	0.42074	1.515000	0.48885	0.650000	0.86243	CTC	CBLB	-	NULL		0.493	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	G	NM_170662		105397350	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105397350	G	A	105397350	3	1	54	1	0	0	0	0	1	0	0	0	2706	942	33	1	466	1	CBLB	3	105397350	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	43012153	105397350	92625080	67	7094										
HGD	3081	genome.wustl.edu	37	chr3	120389327	120389327	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtgagtgacttggccttcgtCaatggattcaaagggcttgt	13	7	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:120389327C>T	ENST00000283871.5	-	4	688	c.229G>A	c.(229-231)Gac>Aac	p.D77N	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	77					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGCCTTCGTCAATGGATTCA	0.428																																																	0													154	153	153					3																	120389327		2203	4296	6499	SO:0001583	missense	3081				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.229G>A	3.37:g.120389327C>T	ENSP00000283871:p.Asp77Asn		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.D77N	ENST00000283871.5	37	c.229	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808425	0.50421	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98914	-5.23;-5.23	6.06	6.06	0.98353	Cupin, RmlC-type (1);	0.386726	0.31507	N	0.007532	D	0.96200	0.8761	N	0.25144	0.715	0.30969	N	0.722764	B	0.02656	0.0	B	0.01281	0.0	D	0.91958	0.5576	10	0.33940	T	0.23	-0.8936	18.1221	0.89574	0.0:1.0:0.0:0.0	.	77	Q93099	HGD_HUMAN	N	77;36	ENSP00000283871:D77N;ENSP00000419560:D36N	ENSP00000283871:D77N	D	-	1	0	HGD	121872017	0.742000	0.28228	1.000000	0.80357	0.840000	0.47671	1.151000	0.31651	2.871000	0.98454	0.655000	0.94253	GAC	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase		0.428	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	C			120389327	-1	no_errors	ENST00000283871	ensembl	human	known	70_37	missense	SNP	0.994	T	T	120389327	C	T	120389327	3	4	54	1	0	0	0	0	1	0	0	0	7104	826	29	1	1152	1	HGD	3	120389327	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	14991977	120389327	77633103	68	7095										
TBL1XR1	79718	genome.wustl.edu	37	chr3	176755911	176755911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagtcatgtcgtcagaacagGaggccaagagattgccagtt	12	8	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:176755911G>A	ENST00000430069.1	-	12	1356	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S366F			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	366					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCAGAACAGGAGGCCAAGAG	0.388																																																	0													94	90	91					3																	176755911		1894	4111	6005	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1097C>T	3.37:g.176755911G>A	ENSP00000405574:p.Ser366Phe		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S366F	ENST00000430069.1	37	c.1097	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.092417	0.94149	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.72725	-0.68;-0.68	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94225	0.7471	10	0.87932	D	0	-3.1127	18.3369	0.90291	0.0:0.0:1.0:0.0	.	366	Q9BZK7	TBL1R_HUMAN	F	366;366;228	ENSP00000405574:S366F;ENSP00000413251:S366F	ENSP00000405574:S366F	S	-	2	0	TBL1XR1	178238605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.768000	0.98965	2.581000	0.87130	0.585000	0.79938	TCC	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.388	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	G	NM_024665		176755911	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176755911	G	A	176755911	3	1	54	1	0	0	0	0	1	0	0	0	15670	1174	41	1	467	1	TBL1XR1	3	176755911	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	56366584	176755911	21266519	69	7096										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	54	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2180180	178936091	19086339	70	7097										
MCF2L2	23101	genome.wustl.edu	37	chr3	182937697	182937697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctccatatcttcaggagactCgaaatccagcagaccctgca	7	14	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:182937697C>T	ENST00000328913.3	-	21	2614	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E773K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	773	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCAGGAGACTCGAAATCCAGC	0.353																																																	0													78	80	79					3																	182937697		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2317G>A	3.37:g.182937697C>T	ENSP00000328118:p.Glu773Lys		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E773K	ENST00000328913.3	37	c.2317	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265876	0.59540	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.62941	-0.01;-0.01	4.05	4.05	0.47172	Dbl homology (DH) domain (5);	0.145768	0.31922	N	0.006857	T	0.53158	0.1779	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	P	0.55545	0.778	T	0.60182	-0.7313	10	0.59425	D	0.04	.	12.0363	0.53427	0.0:1.0:0.0:0.0	.	773	Q86YR7	MF2L2_HUMAN	K	773	ENSP00000328118:E773K;ENSP00000420070:E773K	ENSP00000328118:E773K	E	-	1	0	MCF2L2	184420391	0.398000	0.25279	0.933000	0.37362	0.962000	0.63368	0.726000	0.25984	2.549000	0.85964	0.655000	0.94253	GAG	MCF2L2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.353	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		182937697	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	0.962	T	T	182937697	C	T	182937697	3	4	54	1	0	0	0	0	1	0	0	0	9403	893	31	1	1067	1	MCF2L2	3	182937697	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4001606	182937697	15084733	71	7098										
LMLN	89782	genome.wustl.edu	37	chr3	197712736	197712736	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctctcacttcaagatttgcaGatggcctcccaccttttaat	5	13	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:197712736G>C	ENST00000330198.4	+	8	926	c.904G>C	c.(904-906)Gat>Cat	p.D302H	LMLN_ENST00000420910.2_Missense_Mutation_p.D302H|LMLN_ENST00000332636.5_Missense_Mutation_p.D250H|LMLN_ENST00000482695.1_Missense_Mutation_p.D250H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	302					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGATTTGCAGATGGCCTCCC	0.383																																																	0													108	104	105					3																	197712736		2203	4300	6503	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.904G>C	3.37:g.197712736G>C	ENSP00000328829:p.Asp302His		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.D302H	ENST00000330198.4	37	c.904	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549490	0.13374	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.24	3.26	0.37387	.	0.271361	0.42172	D	0.000749	T	0.40570	0.1122	L	0.41573	1.285	0.35248	D	0.778451	B;P;P;P;B	0.48640	0.257;0.913;0.895;0.865;0.049	B;P;P;P;B	0.53593	0.14;0.73;0.672;0.657;0.06	T	0.45571	-0.9252	10	0.31617	T	0.26	-16.3268	6.2432	0.20803	0.1408:0.0:0.8592:0.0	.	302;250;302;294;250	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	250;302;302;250	ENSP00000418324:D250H;ENSP00000328829:D302H;ENSP00000410926:D302H;ENSP00000328611:D250H	ENSP00000328829:D302H	D	+	1	0	LMLN	199197133	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.831000	0.48144	2.201000	0.70794	0.298000	0.19748	GAT	LMLN	-	pfam_Peptidase_M8		0.383	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	G	NM_033029		197712736	1	no_errors	ENST00000330198	ensembl	human	known	70_37	missense	SNP	1.000	C	C	197712736	G	C	197712736	3	2	54	1	0	0	0	0	1	0	0	0	8868	942	33	1	934	1	LMLN	3	197712736	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	14775039	197712736	309694	72	7099										
LYAR	55646	genome.wustl.edu	37	chr4	4281444	4281444	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agttctctcactttggggctGacattgggtctctttattaa	9	8	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:4281444G>A	ENST00000343470.4	-	5	510	c.270C>T	c.(268-270)gtC>gtT	p.V90V	LYAR_ENST00000452476.1_Silent_p.V90V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	90						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTTGGGGCTGACATTGGGTC	0.328																																																	0													56	60	59					4																	4281444		2202	4299	6501	SO:0001819	synonymous_variant	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.270C>T	4.37:g.4281444G>A			D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	pfam_Znf_C2H2_LYAR	p.V90	ENST00000343470.4	37	c.270	CCDS3374.1	4																																																																																			LYAR	-	NULL		0.328	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYAR	HGNC	protein_coding	OTTHUMT00000246800.2	G	NM_017816		4281444	-1	no_errors	ENST00000343470	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4281444	G	A	4281444	2	1	54	1	0	0	0	0	0	0	0	1	9126	1277	45	1		1	LYAR	4	4281444	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		4281444	186872832	73	7100										
MRFAP1	93621	genome.wustl.edu	37	chr4	6642923	6642923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggagattgcgaagatggcaGagatgctggtggagctggtc	18	5	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:6642923G>C	ENST00000320912.4	+	2	987	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	MRFAP1_ENST00000507420.1_Missense_Mutation_p.E112Q|MRFAP1_ENST00000382581.4_Missense_Mutation_p.E112Q	NM_001272053.1	NP_001258982.1			Morf4 family associated protein 1											lung(1)	1						GAAGATGGCAGAGATGCTGGT	0.697																																																	0													52	55	54					4																	6642923		2203	4300	6503	SO:0001583	missense	93621			AF116272	CCDS3389.1	4p16.1	2011-01-27	2011-01-27		ENSG00000179010	ENSG00000179010			24549	protein-coding gene	gene with protein product						15367658	Standard	NM_033296		Approved	PAM14, PGR1	uc003gjh.2	Q9Y605	OTTHUMG00000125504	ENST00000320912.4:c.334G>C	4.37:g.6642923G>C	ENSP00000318352:p.Glu112Gln			Missense_Mutation	SNP	NULL	p.E112Q	ENST00000320912.4	37	c.334	CCDS3389.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330859	0.81690	.	.	ENSG00000179010	ENST00000320912;ENST00000507420;ENST00000382581	.	.	.	4.11	4.11	0.48088	.	0.113194	0.31697	N	0.007206	T	0.37652	0.1011	N	0.17082	0.46	0.25548	N	0.987112	D	0.67145	0.996	P	0.59948	0.866	T	0.14868	-1.0457	9	0.62326	D	0.03	0.0513	12.1375	0.53979	0.0:0.0:1.0:0.0	.	112	Q9Y605	MOFA1_HUMAN	Q	112	.	ENSP00000318352:E112Q	E	+	1	0	MRFAP1	6693824	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.865000	0.48412	2.590000	0.87494	0.561000	0.74099	GAG	MRFAP1	-	NULL		0.697	MRFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRFAP1	HGNC	protein_coding	OTTHUMT00000246831.1	G	NM_033296		6642923	1	no_errors	ENST00000320912	ensembl	human	known	70_37	missense	SNP	0.997	C	C	6642923	G	C	6642923	3	2	54	1	0	0	0	0	1	0	0	0	9784	943	33	1	336	1	MRFAP1	4	6642923	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2361479	6642923	184511353	74	7101										
GRXCR1	389207	genome.wustl.edu	37	chr4	42965086	42965086	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atggaaaagagttagacgaaCgatgccgacgagtttctgaa	12	6	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:42965086C>T	ENST00000399770.2	+	2	562	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	188	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTTAGACGAACGATGCCGACG	0.418																																																	0													336	334	335					4																	42965086		1902	4120	6022	SO:0001587	stop_gained	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.562C>T	4.37:g.42965086C>T	ENSP00000382670:p.Arg188*			Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R188*	ENST00000399770.2	37	c.562	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928974	0.52759	.	.	ENSG00000215203	ENST00000399770	.	.	.	6.07	1.85	0.25348	.	0.000000	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8656	16.2428	0.82424	0.4915:0.5085:0.0:0.0	.	.	.	.	X	188	.	ENSP00000382670:R188X	R	+	1	2	GRXCR1	42659843	0.970000	0.33590	0.897000	0.35233	0.084000	0.17831	0.696000	0.25541	0.392000	0.25172	0.655000	0.94253	CGA	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold		0.418	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	C	NM_001080476		42965086	1	no_errors	ENST00000399770	ensembl	human	known	70_37	nonsense	SNP	0.925	T	T	42965086	C	T	42965086	4	4	54	1	0	0	0	0	0	1	0	0	6832	528	19	2	568	2	GRXCR1	4	42965086	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	36322163	42965086	148189190	75	7102										
PDHA2	5161	genome.wustl.edu	37	chr4	96761857	96761857	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtaaatataaaggaaacgatGagatctgtttgactttatat	8	3	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:96761857G>C	ENST00000295266.4	+	1	619	c.556G>C	c.(556-558)Gag>Cag	p.E186Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	186					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGGAAACGATGAGATCTGTTT	0.478																																																	0													62	67	65					4																	96761857		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.556G>C	4.37:g.96761857G>C	ENSP00000295266:p.Glu186Gln		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.E186Q	ENST00000295266.4	37	c.556	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	5.194	0.221313	0.09863	.	.	ENSG00000163114	ENST00000295266	D	0.95949	-3.86	4.77	2.04	0.26737	Dehydrogenase, E1 component (1);	0.108661	0.64402	N	0.000008	D	0.88869	0.6554	N	0.21617	0.685	0.22842	N	0.998665	B	0.18310	0.027	B	0.20577	0.03	T	0.78319	-0.2250	10	0.34782	T	0.22	-23.425	6.3823	0.21542	0.176:0.1573:0.6667:0.0	.	186	P29803	ODPAT_HUMAN	Q	186	ENSP00000295266:E186Q	ENSP00000295266:E186Q	E	+	1	0	PDHA2	96980880	0.990000	0.36364	0.001000	0.08648	0.196000	0.23810	2.035000	0.41155	0.304000	0.22809	0.467000	0.42956	GAG	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.478	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	G			96761857	1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	0.182	C	C	96761857	G	C	96761857	3	2	54	1	0	0	0	0	1	0	0	0	11689	1291	45	1	558	1	PDHA2	4	96761857	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	53796771	96761857	94392419	76	7103										
ANKRD50	57182	genome.wustl.edu	37	chr4	125591339	125591339	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	actacagcaccatgctcaatCagaagctgaaccacttttac	5	13	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:125591339C>G	ENST00000504087.1	-	4	4130	c.3093G>C	c.(3091-3093)ctG>ctC	p.L1031L	ANKRD50_ENST00000515641.1_Silent_p.L852L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1031										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CATGCTCAATCAGAAGCTGAA	0.483																																																	0													105	87	93					4																	125591339		2203	4300	6503	SO:0001819	synonymous_variant	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3093G>C	4.37:g.125591339C>G			A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L1031	ENST00000504087.1	37	c.3093	CCDS34060.1	4																																																																																			ANKRD50	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	C	NM_020337		125591339	-1	no_errors	ENST00000504087	ensembl	human	known	70_37	silent	SNP	0.987	G	G	125591339	C	G	125591339	2	3	54	1	0	0	0	0	0	0	0	1	677	813	29	1		1	ANKRD50	4	125591339	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	28829482	125591339	65562937	77	7104										
FAT4	79633	genome.wustl.edu	37	chr4	126238993	126238993	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgaccatcctcctgtcttttCacagcaagtgtacagagtga	8	11	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:126238993C>G	ENST00000394329.3	+	1	1440	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTGTCTTTTCACAGCAAGTG	0.547											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44	48	47					4																	126238993		2186	4292	6478	SO:0001587	stop_gained	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1427C>G	4.37:g.126238993C>G	ENSP00000377862:p.Ser476*	1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S476*	ENST00000394329.3	37	c.1427	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	37	6.007837	0.97195	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.66	3.79	0.43588	.	0.926711	0.08681	U	0.909431	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.5606	0.27849	0.4152:0.3719:0.2129:0.0	.	.	.	.	X	476	.	ENSP00000377862:S476X	S	+	2	0	FAT4	126458443	0.991000	0.36638	0.959000	0.39883	0.994000	0.84299	2.689000	0.46993	1.122000	0.41944	0.561000	0.74099	TCA	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.547	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126238993	1	no_errors	ENST00000394329	ensembl	human	known	70_37	nonsense	SNP	0.080	G	G	126238993	C	G	126238993	4	3	54	1	0	0	0	0	0	1	0	0	5710	838	29	1	1429	1	FAT4	4	126238993	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	647654	126238993	64915283	78	7105										
FBXW7	55294	genome.wustl.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gccatcatattgaacacagcGgactgctgcaacatgaccca	8	13	1	2	rs149680468		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505C	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247289	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153247289	G	A	153247289	3	1	54	1	0	0	0	0	1	0	0	0	5787	1116	39	2	622	2	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	27008296	153247289	37906987	79	7106										
LRAT	9227	genome.wustl.edu	37	chr4	155665567	155665567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gctctttagttcgggcgccgCgggcgaagacaaagggagga	17	9	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:155665567C>T	ENST00000336356.3	+	2	342	c.89C>T	c.(88-90)gCg>gTg	p.A30V	LRAT_ENST00000507827.1_Missense_Mutation_p.A30V	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	30					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCGGGCGCCGCGGGCGAAGAC	0.567																																																	0													59	59	59					4																	155665567		2203	4300	6503	SO:0001583	missense	9227			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.89C>T	4.37:g.155665567C>T	ENSP00000337224:p.Ala30Val		A8K983|Q8N716	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.A30V	ENST00000336356.3	37	c.89	CCDS3789.1	4	.	.	.	.	.	.	.	.	.	.	C	5.566	0.289335	0.10513	.	.	ENSG00000121207	ENST00000502525;ENST00000507827;ENST00000336356	T;T	0.43294	0.95;0.95	5.02	2.32	0.28847	.	1.100060	0.06676	N	0.767073	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	B	0.28605	0.217	B	0.14023	0.01	T	0.19778	-1.0295	10	0.31617	T	0.26	.	4.4139	0.11447	0.1415:0.4143:0.3606:0.0836	.	30	O95237	LRAT_HUMAN	V	30	ENSP00000426761:A30V;ENSP00000337224:A30V	ENSP00000337224:A30V	A	+	2	0	LRAT	155885017	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.849000	0.27723	0.276000	0.22118	-0.175000	0.13238	GCG	LRAT	-	NULL		0.567	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	C	NM_004744		155665567	1	no_errors	ENST00000336356	ensembl	human	known	70_37	missense	SNP	0.000	T	T	155665567	C	T	155665567	3	4	54	1	0	0	0	0	1	0	0	0	8953	768	27	2	91	2	LRAT	4	155665567	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2418278	155665567	35488709	80	7107										
RBM46	166863	genome.wustl.edu	37	chr4	155719379	155719379	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atcgtggttttgcatttgtgGaatatgaatctcacagagct	10	6	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:155719379G>T	ENST00000281722.3	+	3	803	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	RBM46_ENST00000510397.1_Nonsense_Mutation_p.E190*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.E190*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	190	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCATTTGTGGAATATGAATC	0.338																																																	0													58	56	57					4																	155719379		2203	4293	6496	SO:0001587	stop_gained	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.568G>T	4.37:g.155719379G>T	ENSP00000281722:p.Glu190*		B3KWU8|B4DZ27	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E190*	ENST00000281722.3	37	c.568	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757592	0.89843	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	.	.	.	5.64	4.8	0.61643	.	0.149830	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3518	10.5334	0.44990	0.1469:0.0:0.8531:0.0	.	.	.	.	X	190	.	ENSP00000281722:E190X	E	+	1	0	RBM46	155938829	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.628000	0.74262	1.389000	0.46526	0.563000	0.77884	GAA	RBM46	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.338	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1	G	NM_144979		155719379	1	no_errors	ENST00000281722	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	155719379	G	T	155719379	4	4	54	1	0	0	0	0	0	1	0	0	13170	1175	41	3	574	3	RBM46	4	155719379	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	53812	155719379	35434897	81	7108										
ODZ3	55714	genome.wustl.edu	37	chr4	183721066	183721066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tacttcatcaagaccaccacGcccgagagcgacctgggcac	9	16	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:183721066G>A	ENST00000511685.1	+	28	7785	c.7662G>A	c.(7660-7662)acG>acA	p.T2554T	TENM3_ENST00000406950.2_Silent_p.T2554T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2554					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGACCACCACGCCCGAGAGCG	0.627																																																	0													33	39	37					4																	183721066		2185	4269	6454	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7662G>A	4.37:g.183721066G>A			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T2554	ENST00000511685.1	37	c.7662	CCDS47165.1	4																																																																																			TENM3	-	NULL		0.627	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183721066	1	no_errors	ENST00000406950	ensembl	human	known	70_37	silent	SNP	0.998	A	A	183721066	G	A	183721066	2	1	54	1	0	0	0	0	0	0	0	1	10860	1074	38	2		2	ODZ3	4	183721066	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	28001687	183721066	7433210	82	7109										
SKIV2L2	23517	genome.wustl.edu	37	chr5	54696067	54696067	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catatttttttcaggaagttCagaaacgttttcctgacggc	8	8	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:54696067C>T	ENST00000230640.5	+	21	2553	c.2299C>T	c.(2299-2301)Cag>Tag	p.Q767*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.Q666*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	767					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCAGGAAGTTCAGAAACGTTT	0.343																																					Melanoma(2;92 134 23744 29976 33782)												0													51	53	53					5																	54696067		2203	4300	6503	SO:0001587	stop_gained	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2299C>T	5.37:g.54696067C>T	ENSP00000230640:p.Gln767*		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q767*	ENST00000230640.5	37	c.2299	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.334481	0.98217	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2112	19.157	0.93516	0.0:1.0:0.0:0.0	.	.	.	.	X	767;666	.	ENSP00000230640:Q767X	Q	+	1	0	SKIV2L2	54731824	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.511000	0.67024	2.525000	0.85131	0.655000	0.94253	CAG	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.343	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	C			54696067	1	no_errors	ENST00000230640	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	54696067	C	T	54696067	4	4	54	1	0	0	0	0	0	1	0	0	14390	827	29	1	2381	1	SKIV2L2	5	54696067	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		54696067	126219193	83	7110										
HTR1A	3350	genome.wustl.edu	37	chr5	63256510	63256510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgcccatgatgatgcccagcGtcttcactgtcttcctctct	7	15	4	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:63256510G>A	ENST00000323865.3	-	1	1270	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	346					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GATGCCCAGCGTCTTCACTGT	0.607																																																	0													122	124	124					5																	63256510		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1037C>T	5.37:g.63256510G>A	ENSP00000316244:p.Thr346Met		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.T346M	ENST00000323865.3	37	c.1037	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751066	0.69533	.	.	ENSG00000178394	ENST00000323865	T	0.36699	1.24	5.7	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.052820	0.85682	D	0.000000	T	0.61627	0.2362	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65228	-0.6219	10	0.46703	T	0.11	.	14.9223	0.70847	0.0:0.0:0.8559:0.1441	.	346	P08908	5HT1A_HUMAN	M	346	ENSP00000316244:T346M	ENSP00000316244:T346M	T	-	2	0	HTR1A	63292266	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	9.869000	0.99810	1.370000	0.46153	0.655000	0.94253	ACG	HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63256510	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	0.999	A	A	63256510	G	A	63256510	3	1	54	1	0	0	0	0	1	0	0	0	7456	1145	40	2	234	2	HTR1A	5	63256510	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	8560443	63256510	117658750	84	7111										
SFRS12	140890	genome.wustl.edu	37	chr5	65465899	65465899	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagtagatcccataatagatCacgttcaagacagaaagaca	8	8	2	5			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:65465899C>T	ENST00000380918.3	+	9	1334	c.674C>T	c.(673-675)tCa>tTa	p.S225L	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.S341L	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	225	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						CATAATAGATCACGTTCAAGA	0.353																																					GBM(10;31 347 27684 38976 41583)												0													40	39	39					5																	65465899		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.674C>T	5.37:g.65465899C>T	ENSP00000370305:p.Ser225Leu		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S341L	ENST00000380918.3	37	c.1022	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354906	0.82243	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.25912	1.77;1.77	5.52	5.52	0.82312	.	0.554771	0.19065	N	0.123648	T	0.48114	0.1482	L	0.52573	1.65	0.52099	D	0.999942	D;D;D	0.61080	0.981;0.981;0.989	D;D;D	0.75020	0.95;0.95;0.985	T	0.31024	-0.9958	10	0.49607	T	0.09	.	19.4175	0.94708	0.0:1.0:0.0:0.0	.	225;225;341	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	L	341;341;225	ENSP00000334538:S341L;ENSP00000370305:S225L	ENSP00000334538:S341L	S	+	2	0	SREK1	65501655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.019000	0.70818	2.582000	0.87167	0.585000	0.79938	TCA	SREK1	-	NULL		0.353	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	C	NM_001077199		65465899	1	no_errors	ENST00000334121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65465899	C	T	65465899	3	4	54	1	0	0	0	0	1	0	0	0	14197	838	29	1	1052	1	SFRS12	5	65465899	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2209389	65465899	115449361	85	7112										
BDP1	55814	genome.wustl.edu	37	chr5	70845414	70845414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggtcaaatcagtgaataccGaagaaaggggtgacatgagg	14	5	2	4			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:70845414G>A	ENST00000358731.4	+	34	7239	c.6976G>A	c.(6976-6978)Gaa>Aaa	p.E2326K	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2326					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGTGAATACCGAAGAAAGGGG	0.413																																																	0													89	83	85					5																	70845414		1894	4114	6008	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6976G>A	5.37:g.70845414G>A	ENSP00000351575:p.Glu2326Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E2326K	ENST00000358731.4	37	c.6976	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	2.817	-0.245716	0.05906	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.03772	3.81	5.96	3.2	0.36748	.	0.620043	0.16111	N	0.229117	T	0.02304	0.0071	N	0.20685	0.6	0.19300	N	0.999973	P	0.37500	0.597	B	0.26094	0.066	T	0.43605	-0.9381	10	0.13108	T	0.6	.	5.5772	0.17231	0.1695:0.1637:0.6667:0.0	.	2326	A6H8Y1	BDP1_HUMAN	K	2326;1874	ENSP00000351575:E2326K	ENSP00000351575:E2326K	E	+	1	0	BDP1	70881170	0.185000	0.23213	0.027000	0.17364	0.028000	0.11728	0.932000	0.28884	0.844000	0.35094	0.655000	0.94253	GAA	BDP1	-	NULL		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70845414	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.184	A	A	70845414	G	A	70845414	3	1	54	1	0	0	0	0	1	0	0	0	1396	1059	37	1	7110	1	BDP1	5	70845414	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5379515	70845414	110069846	86	7113										
PTCD2	79810	genome.wustl.edu	37	chr5	71616231	71616231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggtccgagacagtatggctGctgcatttcggccctcgaat	12	11	0	1	rs574908266		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:71616231G>C	ENST00000380639.5	+	1	38	c.22G>C	c.(22-24)Gct>Cct	p.A8P	PTCD2_ENST00000543322.1_Missense_Mutation_p.A8P|MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000503868.1_Missense_Mutation_p.A8P|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank|MRPS27_ENST00000522095.1_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	8					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CAGTATGGCTGCTGCATTTCG	0.602																																																	0													50	58	56					5																	71616231		2179	4289	6468	SO:0001583	missense	79810			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.22G>C	5.37:g.71616231G>C	ENSP00000370013:p.Ala8Pro		B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat	p.A8P	ENST00000380639.5	37	c.22	CCDS4014.2	5	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732332	0.48939	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.26	3.46	0.39613	.	0.682625	0.15092	N	0.280994	T	0.38957	0.1060	L	0.29908	0.895	0.24347	N	0.994938	D;D	0.57571	0.98;0.966	P;B	0.58331	0.837;0.446	T	0.11227	-1.0596	9	0.51188	T	0.08	.	7.2714	0.26258	0.1999:0.0:0.8001:0.0	.	8;8	E9PFV7;Q8WV60	.;PTCD2_HUMAN	P	8	.	ENSP00000308948:A8P	A	+	1	0	PTCD2	71651987	0.026000	0.19158	0.270000	0.24601	0.018000	0.09664	0.898000	0.28404	0.778000	0.33520	-0.258000	0.10820	GCT	PTCD2	-	NULL		0.602	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD2	HGNC	protein_coding	OTTHUMT00000218562.6	G	NM_024754		71616231	1	no_errors	ENST00000308077	ensembl	human	known	70_37	missense	SNP	0.069	C	C	71616231	G	C	71616231	3	2	54	1	0	0	0	0	1	0	0	0	12755	1319	46	4	24	4	PTCD2	5	71616231	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	770817	71616231	109299029	87	7114										
VCAN	1462	genome.wustl.edu	37	chr5	82836731	82836731	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctttaactgaggaaacatttGagggctctgctgatgttctg	11	7	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:82836731G>C	ENST00000265077.3	+	8	8474	c.7909G>C	c.(7909-7911)Gag>Cag	p.E2637Q	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.E1650Q|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2637	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAAACATTTGAGGGCTCTGC	0.413																																																	0													104	104	104					5																	82836731		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7909G>C	5.37:g.82836731G>C	ENSP00000265077:p.Glu2637Gln		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2637Q	ENST00000265077.3	37	c.7909	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152200	0.38021	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	.	0.092748	0.47455	D	0.000236	T	0.62684	0.2448	M	0.69823	2.125	0.34522	D	0.708248	D;D	0.76494	0.999;0.998	D;P	0.76575	0.988;0.796	T	0.69124	-0.5228	10	0.36615	T	0.2	.	14.8002	0.69909	0.0:0.1437:0.8563:0.0	.	1650;2637	P13611-2;P13611	.;CSPG2_HUMAN	Q	2637;1650	ENSP00000265077:E2637Q;ENSP00000340062:E1650Q	ENSP00000265077:E2637Q	E	+	1	0	VCAN	82872487	0.989000	0.36119	0.462000	0.27118	0.283000	0.27025	2.701000	0.47094	2.804000	0.96469	0.462000	0.41574	GAG	VCAN	-	NULL		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82836731	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.278	C	C	82836731	G	C	82836731	3	2	54	1	0	0	0	0	1	0	0	0	17169	1291	45	1	7935	1	VCAN	5	82836731	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	11220500	82836731	98078529	88	7115										
GPR98	84059	genome.wustl.edu	37	chr5	89949139	89949139	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcttggatccagagtgtttaGagagagaagtggcagaagat	14	4	1	5			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:89949139G>C	ENST00000405460.2	+	20	3844	c.3748G>C	c.(3748-3750)Gag>Cag	p.E1250Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1250					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGTGTTTAGAGAGAGAAGT	0.443																																																	0													103	98	99					5																	89949139		1940	4149	6089	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3748G>C	5.37:g.89949139G>C	ENSP00000384582:p.Glu1250Gln		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1250Q	ENST00000405460.2	37	c.3748	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.861422|2.861422	0.51482|0.51482	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.26518|.	1.73|.	5.84|5.84	4.96|4.96	0.65561|0.65561	.|.	0.225346|.	0.53938|.	N|.	0.000054|.	T|T	0.62527|0.62527	0.2435|0.2435	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P|.	0.52316|.	0.952|.	P|.	0.47744|.	0.556|.	T|T	0.61232|0.61232	-0.7104|-0.7104	10|5	0.59425|.	D|.	0.04|.	.|.	10.574|10.574	0.45217|0.45217	0.0689:0.1339:0.7972:0.0|0.0689:0.1339:0.7972:0.0	.|.	1250|.	Q8WXG9|.	GPR98_HUMAN|.	Q|T	1250|838	ENSP00000384582:E1250Q|.	ENSP00000296619:E1250Q|.	E|R	+|+	1|2	0|0	GPR98|GPR98	89984895|89984895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.321000|5.321000	0.65846|0.65846	1.574000|1.574000	0.49760|0.49760	0.637000|0.637000	0.83480|0.83480	GAG|AGA	GPR98	-	NULL		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89949139	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89949139	G	C	89949139	3	2	54	1	0	0	0	0	1	0	0	0	6741	943	33	1	3826	1	GPR98	5	89949139	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	7112408	89949139	90966121	89	7116										
ELL2	22936	genome.wustl.edu	37	chr5	95234166	95234166	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	accagggggtaaggtttccaGagaagtcctagaggtatatt	13	6	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:95234166G>C	ENST00000237853.4	-	8	1652	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	ELL2_ENST00000431061.2_Missense_Mutation_p.L185V	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	435					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AAGGTTTCCAGAGAAGTCCTA	0.423																																																	0													110	115	113					5																	95234166		2203	4300	6503	SO:0001583	missense	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1303C>G	5.37:g.95234166G>C	ENSP00000237853:p.Leu435Val		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L435V	ENST00000237853.4	37	c.1303	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636684	0.14386	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.30714	1.89;1.52	5.35	1.95	0.26073	.	0.646613	0.15980	N	0.235348	T	0.28699	0.0711	M	0.70275	2.135	0.31479	N	0.667459	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.13853	T	0.58	1.6341	9.6179	0.39704	0.1119:0.2524:0.6357:0.0	.	435	O00472	ELL2_HUMAN	V	435;185	ENSP00000237853:L435V;ENSP00000399704:L185V	ENSP00000237853:L435V	L	-	1	2	ELL2	95259922	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	0.966000	0.29331	0.567000	0.29293	0.484000	0.47621	CTG	ELL2	-	NULL		0.423	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	G	NM_012081		95234166	-1	no_errors	ENST00000237853	ensembl	human	known	70_37	missense	SNP	0.998	C	C	95234166	G	C	95234166	3	2	54	1	0	0	0	0	1	0	0	0	5075	933	33	1	639	1	ELL2	5	95234166	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5285027	95234166	85681094	90	7117										
CAMK4	814	genome.wustl.edu	37	chr5	110814092	110814092	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cctctagactttgtggatttGaaccattctatgatgaaaga	8	7	2	5			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:110814092G>C	ENST00000282356.4	+	9	1113	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	CAMK4_ENST00000512453.1_Missense_Mutation_p.E239Q	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTGTGGATTTGAACCATTCTA	0.338																																																	0													95	101	99					5																	110814092		2202	4300	6502	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.715G>C	5.37:g.110814092G>C	ENSP00000282356:p.Glu239Gln		D3DSZ7	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.E239Q	ENST00000282356.4	37	c.715	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977925	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.49139	0.79;0.79	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	N	0.17082	0.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56402	-0.7985	10	0.40728	T	0.16	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	239	Q16566	KCC4_HUMAN	Q	239	ENSP00000422634:E239Q;ENSP00000282356:E239Q	ENSP00000282356:E239Q	E	+	1	0	CAMK4	110841991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.376000	0.97181	2.793000	0.96121	0.591000	0.81541	GAA	CAMK4	-	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		0.338	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	G	NM_001744		110814092	1	no_errors	ENST00000282356	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110814092	G	C	110814092	3	2	54	1	0	0	0	0	1	0	0	0	2610	1291	45	1	749	1	CAMK4	5	110814092	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	15579926	110814092	70101168	91	7118										
LMNB1	4001	genome.wustl.edu	37	chr5	126113469	126113469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gaccgagctggccgacgcgcGacgcgcgctcgacgacacgg	16	16	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:126113469G>A	ENST00000261366.5	+	1	630	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000395354.1_Missense_Mutation_p.R90Q|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	90	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GCCGACGCGCGACGCGCGCTC	0.692																																																	0													4	4	4					5																	126113469		1925	3776	5701	SO:0001583	missense	4001			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.269G>A	5.37:g.126113469G>A	ENSP00000261366:p.Arg90Gln		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	pfam_F,pfam_Lamin_tail_dom	p.R90Q	ENST00000261366.5	37	c.269	CCDS4140.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.586798	0.96578	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.92595	-3.07;-3.07	1.85	1.85	0.25348	Filament (1);	0.000000	0.64402	U	0.000004	D	0.94152	0.8124	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94018	0.7290	10	0.66056	D	0.02	.	12.6968	0.57008	0.0:0.0:1.0:0.0	.	90	P20700	LMNB1_HUMAN	Q	90	ENSP00000261366:R90Q;ENSP00000378761:R90Q	ENSP00000261366:R90Q	R	+	2	0	LMNB1	126141368	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.997000	0.93544	1.342000	0.45619	0.313000	0.20887	CGA	LMNB1	-	pfam_F		0.692	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2	G	NM_005573		126113469	1	no_errors	ENST00000261366	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126113469	G	A	126113469	3	1	54	1	0	0	0	0	1	0	0	0	8870	1058	37	1	271	1	LMNB1	5	126113469	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	15299377	126113469	54801791	92	7119										
FBN2	2201	genome.wustl.edu	37	chr5	127866340	127866340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccactggaacaagtacacatGttaggacgggaacaaaatcc	9	10	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:127866340G>A	ENST00000508053.1	-	9	1358	c.384C>T	c.(382-384)aaC>aaT	p.N128N	FBN2_ENST00000508989.1_Intron|FBN2_ENST00000262464.4_Silent_p.N128N			P35556	FBN2_HUMAN	fibrillin 2	128	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGTACACATGTTAGGACGGG	0.348																																																	0													118	108	111					5																	127866340		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.384C>T	5.37:g.127866340G>A			B4DU01|Q59ES6	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.N128	ENST00000508053.1	37	c.384	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN		0.348	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127866340	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	silent	SNP	1.000	A	A	127866340	G	A	127866340	2	1	54	1	0	0	0	0	0	0	0	1	5721	1368	48	4		4	FBN2	5	127866340	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1752871	127866340	53048920	93	7120										
SPOCK1	6695	genome.wustl.edu	37	chr5	136315127	136315127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cactgtgtggctttgtaataGccctcctcattacaccgagg	9	12	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:136315127G>A	ENST00000394945.1	-	10	1192	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	SPOCK1_ENST00000282223.7_Silent_p.G341G|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	341	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAATAGCCCTCCTCAT	0.532																																																	0													113	102	106					5																	136315127		2203	4300	6503	SO:0001819	synonymous_variant	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1023C>T	5.37:g.136315127G>A			B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G341	ENST00000394945.1	37	c.1023	CCDS4191.1	5																																																																																			SPOCK1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1		0.532	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	G	NM_004598		136315127	-1	no_errors	ENST00000282223	ensembl	human	known	70_37	silent	SNP	0.997	A	A	136315127	G	A	136315127	2	1	54	1	0	0	0	0	0	0	0	1	15109	958	34	4		4	SPOCK1	5	136315127	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	8448787	136315127	44600133	94	7121										
PCDHA7	56141	genome.wustl.edu	37	chr5	140214179	140214179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tccgggcggtgtgcaaattcCgtggggatcttctggaggta	16	8	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:140214179C>T	ENST00000525929.1	+	1	211	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71C|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAAATTCCGTGGGGATCT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)												0													99	118	112					5																	140214179		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.211C>T	5.37:g.140214179C>T	ENSP00000436426:p.Arg71Cys		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R71C	ENST00000525929.1	37	c.211	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964536	0.34659	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.30182	1.54;1.54	4.17	2.27	0.28462	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.270973	0.18904	U	0.127960	T	0.58119	0.2100	M	0.92077	3.27	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63381	0.86;0.914	T	0.53940	-0.8367	10	0.87932	D	0	.	9.8143	0.40842	0.1475:0.5669:0.2856:0.0	.	71;71	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	C	71	ENSP00000436426:R71C;ENSP00000367365:R71C	ENSP00000367365:R71C	R	+	1	0	PCDHA7	140194363	0.000000	0.05858	0.206000	0.23566	0.342000	0.28953	-0.884000	0.04166	0.290000	0.22444	0.449000	0.29647	CGT	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	C	NM_018910		140214179	1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.012	T	T	140214179	C	T	140214179	3	4	54	1	0	0	0	0	1	0	0	0	11553	652	23	2	213	2	PCDHA7	5	140214179	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3899052	140214179	40701081	95	7122										
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347477	140347477	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acctgtatagcccagtgcctGagaatgctacacccaacacc	7	15	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:140347477G>C	ENST00000289269.5	+	1	1658	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGTGCCTGAGAATGCTAC	0.582																																					Melanoma(190;638 2083 3390 11909 52360)												0													92	78	82					5																	140347477		2203	4300	6503	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1126G>C	5.37:g.140347477G>C	ENSP00000289269:p.Glu376Gln		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E376Q	ENST00000289269.5	37	c.1126	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902977	0.72754	.	.	ENSG00000243232	ENST00000289269	T	0.75938	-0.98	5.87	5.87	0.94306	Cadherin (3);Cadherin-like (1);	0.000000	0.42548	D	0.000695	D	0.92202	0.7527	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94342	0.7571	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	376;376	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	Q	376	ENSP00000289269:E376Q	ENSP00000289269:E376Q	E	+	1	0	PCDHAC2	140327661	1.000000	0.71417	0.978000	0.43139	0.892000	0.51952	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GAG	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.582	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	G	NM_018899		140347477	1	no_errors	ENST00000289269	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140347477	G	C	140347477	3	2	54	1	0	0	0	0	1	0	0	0	11557	1291	45	1	1128	1	PCDHAC2	5	140347477	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	133298	140347477	40567783	96	7123										
PCDHB5	26167	genome.wustl.edu	37	chr5	140517297	140517297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgaccggagactcaggggccGgcgagttcaagttcctgaag	15	10	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:140517297G>A	ENST00000231134.5	+	1	2498	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	761					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G761S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGGGGCCGGCGAGTTCAA	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											107	130	122					5																	140517297		2200	4300	6500	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2281G>A	5.37:g.140517297G>A	ENSP00000231134:p.Gly761Ser		Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G761S	ENST00000231134.5	37	c.2281	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	G	1.947	-0.442129	0.04604	.	.	ENSG00000113209	ENST00000231134	T	0.44482	0.92	4.62	-2.55	0.06288	.	.	.	.	.	T	0.13756	0.0333	N	0.01454	-0.855	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.34279	-0.9835	9	0.02654	T	1	.	12.6536	0.56776	0.9004:0.0:0.0996:0.0	.	761	Q9Y5E4	PCDB5_HUMAN	S	761	ENSP00000231134:G761S	ENSP00000231134:G761S	G	+	1	0	PCDHB5	140497481	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.206000	0.32321	-0.659000	0.05359	-1.216000	0.01612	GGC	PCDHB5	-	NULL		0.572	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	G	NM_015669		140517297	1	no_errors	ENST00000231134	ensembl	human	known	70_37	missense	SNP	0.002	A	A	140517297	G	A	140517297	3	1	54	1	0	0	0	0	1	0	0	0	11569	1116	39	2	2283	2	PCDHB5	5	140517297	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	169820	140517297	40397963	97	7124										
SH3RF2	153769	genome.wustl.edu	37	chr5	145435737	145435737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccggccctgggactttaggaCaagggtctcttcggaaaggg	15	10	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:145435737C>A	ENST00000511217.1	+	7	1568	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.Q506K|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	506					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTTTAGGACAAGGGTCTCT	0.567																																																	0													78	77	77					5																	145435737		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1516C>A	5.37:g.145435737C>A	ENSP00000424497:p.Gln506Lys		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.Q506K	ENST00000511217.1	37	c.1516	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806773	0.50421	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.20738	2.05;2.05	5.81	5.81	0.92471	.	0.207799	0.35207	N	0.003361	T	0.21145	0.0509	L	0.54323	1.7	0.31052	N	0.715093	P	0.39665	0.682	B	0.32980	0.156	T	0.25187	-1.0139	10	0.59425	D	0.04	-10.4748	14.4648	0.67477	0.0:0.8528:0.1472:0.0	.	506	Q8TEC5	SH3R2_HUMAN	K	506	ENSP00000352028:Q506K;ENSP00000424497:Q506K	ENSP00000352028:Q506K	Q	+	1	0	SH3RF2	145415930	0.890000	0.30428	1.000000	0.80357	0.755000	0.42902	3.212000	0.51145	2.746000	0.94184	0.655000	0.94253	CAA	SH3RF2	-	NULL		0.567	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	C	NM_152550		145435737	1	no_errors	ENST00000359120	ensembl	human	known	70_37	missense	SNP	0.990	A	A	145435737	C	A	145435737	3	1	54	1	0	0	0	0	1	0	0	0	14289	479	17	4	1542	4	SH3RF2	5	145435737	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4918440	145435737	35479523	98	7125										
HTR4	3360	genome.wustl.edu	37	chr5	147889570	147889570	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtagagttagagttctggttGaacttcctcttttctatctg	9	7	4	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:147889570G>A	ENST00000377888.3	-	6	663	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HTR4_ENST00000517929.1_Silent_p.F175F|HTR4_ENST00000520514.1_Silent_p.F175F|HTR4_ENST00000521735.1_Silent_p.F175F|HTR4_ENST00000314512.6_Silent_p.F175F|HTR4_ENST00000354217.2_Silent_p.F175F|HTR4_ENST00000360693.3_Silent_p.F175F|HTR4_ENST00000362016.2_Silent_p.F189F|HTR4_ENST00000521530.1_Silent_p.F175F	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	175					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	AGTTCTGGTTGAACTTCCTCT	0.448																																					GBM(120;370 1604 14007 17804 41573)												0													71	70	70					5																	147889570		2203	4300	6503	SO:0001819	synonymous_variant	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.525C>T	5.37:g.147889570G>A			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.F175	ENST00000377888.3	37	c.525	CCDS4291.1	5																																																																																			HTR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt		0.448	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	G	NM_000870		147889570	-1	no_errors	ENST00000360693	ensembl	human	known	70_37	silent	SNP	1.000	A	A	147889570	G	A	147889570	2	1	54	1	0	0	0	0	0	0	0	1	7469	1281	45	1		1	HTR4	5	147889570	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2453833	147889570	33025690	99	7126										
DOCK2	1794	genome.wustl.edu	37	chr5	169410110	169410110	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atgacagccatcttaaaccaGatgggtgaccagcactactc	8	12	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:169410110G>A	ENST00000256935.8	+	28	2918	c.2838G>A	c.(2836-2838)caG>caA	p.Q946Q	FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000520908.1_Silent_p.Q438Q|DOCK2_ENST00000540750.1_Silent_p.Q7Q|DOCK2_ENST00000523351.1_3'UTR|FAM196B_ENST00000377365.3_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	946	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTAAACCAGATGGGTGACC	0.463																																																	0													183	172	175					5																	169410110		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2838G>A	5.37:g.169410110G>A			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.Q946	ENST00000256935.8	37	c.2838	CCDS4371.1	5																																																																																			DOCK2	-	superfamily_ARM-type_fold		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169410110	1	no_errors	ENST00000256935	ensembl	human	known	70_37	silent	SNP	1.000	A	A	169410110	G	A	169410110	2	1	54	1	0	0	0	0	0	0	0	1	4697	933	33	1		1	DOCK2	5	169410110	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	21520540	169410110	11505150	100	7127										
PECI	10455	genome.wustl.edu	37	chr6	4117592	4117592	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cctggtccagacttctttctGaaaagtgctatcagggaaaa	9	9	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:4117592G>A	ENST00000380118.3	-	9	1015	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380125.2_Nonsense_Mutation_p.Q297*|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_Nonsense_Mutation_p.Q160*|ECI2_ENST00000361538.2_Nonsense_Mutation_p.Q297*|ECI2_ENST00000465828.1_Nonsense_Mutation_p.Q297*|C6orf201_ENST00000430835.2_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	327					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACTTCTTTCTGAAAAGTGCTA	0.403																																																	0													104	110	108					6																	4117592		2203	4300	6503	SO:0001587	stop_gained	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.979C>T	6.37:g.4117592G>A	ENSP00000369461:p.Gln327*		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Nonsense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.Q327*	ENST00000380118.3	37	c.979	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	G	36	5.761141	0.96906	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	.	.	.	6.17	4.27	0.50696	.	0.104631	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	11.7003	0.51567	0.0:0.1383:0.7265:0.1352	.	.	.	.	X	327;297;160;297;297	.	ENSP00000354737:Q297X	Q	-	1	0	ECI2	4062591	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.106000	0.41835	1.585000	0.49928	0.655000	0.94253	CAG	ECI2	-	NULL		0.403	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	G	NM_006117		4117592	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	4117592	G	A	4117592	4	1	54	1	0	0	0	0	0	1	0	0	11740	1299	45	1	213	1	PECI	6	4117592	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		4117592	166997475	101	7128										
FARS2	10667	genome.wustl.edu	37	chr6	5613479	5613479	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aattacgcagaaaatgatttCtatgacttagtccgaacaat	6	7	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:5613479C>G	ENST00000324331.6	+	6	1479	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	FARS2_ENST00000274680.4_Missense_Mutation_p.F381L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	381	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAAATGATTTCTATGACTTAG	0.383																																																	0													135	129	131					6																	5613479		2203	4300	6503	SO:0001583	missense	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1143C>G	6.37:g.5613479C>G	ENSP00000316335:p.Phe381Leu		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.F381L	ENST00000324331.6	37	c.1143	CCDS4494.1	6	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774966	0.70107	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.72835	-0.69;-0.69	5.53	5.53	0.82687	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.061993	0.64402	D	0.000003	T	0.73885	0.3644	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68492	-0.5394	10	0.23891	T	0.37	-9.2999	18.4818	0.90815	0.0:1.0:0.0:0.0	.	381	O95363	SYFM_HUMAN	L	381	ENSP00000274680:F381L;ENSP00000316335:F381L	ENSP00000274680:F381L	F	+	3	2	FARS2	5558478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.426000	0.66476	2.605000	0.88082	0.655000	0.94253	TTC	FARS2	-	pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,tigrfam_Phe-tRNA-synth_IIc_mito		0.383	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	C	NM_006567		5613479	1	no_errors	ENST00000274680	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5613479	C	G	5613479	3	3	54	1	0	0	0	0	1	0	0	0	5696	912	32	1	1161	1	FARS2	6	5613479	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1495887	5613479	165501588	102	7129										
F13A1	2162	genome.wustl.edu	37	chr6	6174946	6174946	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggctgttgttccggaaggtGatggagagcttgaagtcttt	15	5	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:6174946G>T	ENST00000264870.3	-	12	1879	c.1614C>A	c.(1612-1614)atC>atA	p.I538I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	538					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCCGGAAGGTGATGGAGAGCT	0.493																																																	0													290	231	251					6																	6174946		2203	4300	6503	SO:0001819	synonymous_variant	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1614C>A	6.37:g.6174946G>T			Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I538	ENST00000264870.3	37	c.1614	CCDS4496.1	6																																																																																			F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	G	NM_000129		6174946	-1	no_errors	ENST00000264870	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6174946	G	T	6174946	2	4	54	1	0	0	0	0	0	0	0	1	5352	1280	45	3		3	F13A1	6	6174946	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	561467	6174946	164940121	103	7130										
HIST1H2BH	8345	genome.wustl.edu	37	chr6	26252218	26252218	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggccaagcacgccgtgtccGagggcactaaggccgtcacc	13	15	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:26252218G>C	ENST00000356350.2	+	1	340	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537																																																	3	Substitution - Missense(3)	large_intestine(1)|NS(1)|lung(1)											63	68	66					6																	26252218		2203	4300	6503	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.340G>C	6.37:g.26252218G>C	ENSP00000348706:p.Glu114Gln		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114Q	ENST00000356350.2	37	c.340	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839131	0.51057	.	.	ENSG00000197459	ENST00000356350	T	0.48836	0.8	4.65	3.78	0.43462	Histone-fold (2);	0.000000	0.40222	U	0.001155	T	0.44685	0.1305	M	0.91090	3.175	0.32333	N	0.560866	B	0.31769	0.339	B	0.34931	0.192	T	0.56848	-0.7911	10	0.72032	D	0.01	.	12.6473	0.56742	0.0824:0.0:0.9176:0.0	.	114	Q93079	H2B1H_HUMAN	Q	114	ENSP00000348706:E114Q	ENSP00000348706:E114Q	E	+	1	0	HIST1H2BH	26360197	1.000000	0.71417	0.962000	0.40283	0.380000	0.30137	7.726000	0.84824	1.271000	0.44313	0.591000	0.81541	GAG	HIST1H2BH	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.537	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	G	NM_003524		26252218	1	no_errors	ENST00000356350	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26252218	G	C	26252218	3	2	54	1	0	0	0	0	1	0	0	0	7167	1059	37	1	342	1	HIST1H2BH	6	26252218	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	20077272	26252218	144862849	104	7131										
MRPS18B	28973	genome.wustl.edu	37	chr6	30585715	30585715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcttccgaggttctcacagaGttcaggtaactcttcgaaag	9	10	4	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:30585715G>A	ENST00000259873.4	+	1	230	c.73G>A	c.(73-75)Gtt>Att	p.V25I	AL662800.1_ENST00000410962.1_RNA|MRPS18B_ENST00000472229.1_3'UTR|PPP1R10_ENST00000484449.1_5'Flank|MRPS18B_ENST00000506373.2_Missense_Mutation_p.V25I|PPP1R10_ENST00000376511.2_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	25					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						TTCTCACAGAGTTCAGGTAAC	0.502																																																	0													160	139	146					6																	30585715		2203	4300	6503	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.73G>A	6.37:g.30585715G>A	ENSP00000259873:p.Val25Ile		A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.V25I	ENST00000259873.4	37	c.73	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025770	0.54683	.	.	ENSG00000204568	ENST00000259873;ENST00000506373;ENST00000376508	T	0.46451	0.87	5.45	5.45	0.79879	.	0.307262	0.31673	N	0.007258	T	0.28896	0.0717	L	0.46157	1.445	0.29878	N	0.826242	P;P;P	0.44429	0.663;0.835;0.745	B;B;B	0.43889	0.416;0.435;0.251	T	0.14531	-1.0469	10	0.52906	T	0.07	.	14.6523	0.68805	0.0:0.0:1.0:0.0	.	25;25;25	B4DFG6;Q5STN0;Q9Y676	.;.;RT18B_HUMAN	I	25	ENSP00000259873:V25I	ENSP00000259873:V25I	V	+	1	0	MRPS18B	30693694	1.000000	0.71417	0.999000	0.59377	0.525000	0.34531	2.765000	0.47621	2.836000	0.97738	0.655000	0.94253	GTT	MRPS18B	-	NULL		0.502	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	G			30585715	1	no_errors	ENST00000259873	ensembl	human	known	70_37	missense	SNP	0.998	A	A	30585715	G	A	30585715	3	1	54	1	0	0	0	0	1	0	0	0	9852	1029	36	4	75	4	MRPS18B	6	30585715	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4333497	30585715	140529352	105	7132										
HLA-C	3107	genome.wustl.edu	37	chr6	31238207	31238207	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagcccagggcccagcacctCagggtggcctcatggtcaga	13	14	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:31238207C>T	ENST00000376228.5	-	4	689	c.675G>A	c.(673-675)ctG>ctA	p.L225L	HLA-C_ENST00000383329.3_Silent_p.L225L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCCAGCACCTCAGGGTGGCCT	0.602																																																	0													46	50	49					6																	31238207		2202	4298	6500	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.675G>A	6.37:g.31238207C>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L262	ENST00000376228.5	37	c.786	CCDS34393.1	6																																																																																			HLA-C	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31238207	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31238207	C	T	31238207	2	4	54	1	0	0	0	0	0	0	0	1	7217	813	29	1		1	HLA-C	6	31238207	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	652492	31238207	139876860	106	7133										
NOTCH4	4855	genome.wustl.edu	37	chr6	32163297	32163297	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagttgaggtgatccccgctCcggggacggagtaaggcaag	16	9	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:32163297C>G	ENST00000375023.3	-	30	6067	c.5929G>C	c.(5929-5931)Gag>Cag	p.E1977Q	GPSM3_ENST00000375043.3_5'UTR|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1977					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.E1977Q(2)|p.E1977K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GATCCCCGCTCCGGGGACGGA	0.567																																																	3	Substitution - Missense(3)	breast(3)											92	107	102					6																	32163297		1509	2708	4217	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5929G>C	6.37:g.32163297C>G	ENSP00000364163:p.Glu1977Gln		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.E1977Q	ENST00000375023.3	37	c.5929	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066583	0.55539	.	.	ENSG00000204301	ENST00000375023	D	0.82619	-1.63	4.92	4.92	0.64577	.	0.000000	0.44483	D	0.000449	T	0.80380	0.4612	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.61397	0.81;0.888	D	0.83471	0.0059	10	0.87932	D	0	.	13.8008	0.63199	0.0:1.0:0.0:0.0	.	1977;1976	Q99466;B0S882	NOTC4_HUMAN;.	Q	1977	ENSP00000364163:E1977Q	ENSP00000364163:E1977Q	E	-	1	0	NOTCH4	32271275	0.726000	0.28059	0.225000	0.23894	0.099000	0.18886	2.169000	0.42434	2.714000	0.92807	0.650000	0.86243	GAG	NOTCH4	-	pirsf_Notch		0.567	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32163297	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.449	G	G	32163297	C	G	32163297	3	3	54	1	0	0	0	0	1	0	0	0	10575	864	30	1	86	1	NOTCH4	6	32163297	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	925090	32163297	138951770	107	7134										
BRPF3	27154	genome.wustl.edu	37	chr6	36179145	36179145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccatgcggtccagtggggccCgcacccgtcgtgtccgcctg	14	17	0	0	rs530180349		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:36179145C>T	ENST00000357641.6	+	7	2543	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R764C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	764					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGTGGGGCCCGCACCCGTCG	0.632													C|||	1	0.000199681	0	0	5008	,	,		17276	0		0	False		,,,				2504	0.001																0													34	34	34					6																	36179145		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2290C>T	6.37:g.36179145C>T	ENSP00000350267:p.Arg764Cys		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.R764C	ENST00000357641.6	37	c.2290	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796472	0.70567	.	.	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	D;D	0.88277	-2.36;-2.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.94318	0.7551	10	0.87932	D	0	.	19.7068	0.96076	0.0:1.0:0.0:0.0	.	764	Q9ULD4	BRPF3_HUMAN	C	764;764;178	ENSP00000350267:R764C;ENSP00000436504:R764C	ENSP00000350267:R764C	R	+	1	0	BRPF3	36287123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.050000	0.49877	2.650000	0.89964	0.591000	0.81541	CGC	BRPF3	-	NULL		0.632	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	C	NM_015695		36179145	1	no_errors	ENST00000357641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36179145	C	T	36179145	3	4	54	1	0	0	0	0	1	0	0	0	1524	652	23	2	2312	2	BRPF3	6	36179145	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4015848	36179145	134935922	108	7135										
TREML2	79865	genome.wustl.edu	37	chr6	41165887	41165887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagcccatcaaggggtacagGatcccagaggtgttgcgcat	13	10	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:41165887G>A	ENST00000483722.1	-	2	521	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	112	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGGTACAGGATCCCAGAGG	0.622																																																	0													44	43	44					6																	41165887		2203	4297	6500	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.336C>T	6.37:g.41165887G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.I112	ENST00000483722.1	37	c.336	CCDS4853.2	6																																																																																			TREML2	-	pfam_Ig_V-set		0.622	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	G	NM_024807		41165887	-1	no_errors	ENST00000483722	ensembl	human	known	70_37	silent	SNP	0.041	A	A	41165887	G	A	41165887	2	1	54	1	0	0	0	0	0	0	0	1	16504	1164	41	1		1	TREML2	6	41165887	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4986742	41165887	129949180	109	7136										
MEP1A	4224	genome.wustl.edu	37	chr6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctttcttctacacgggggagCgctgtcaggccgtgcaggtg	15	11	3	0	rs565677690		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		19821	0		0	False		,,,				2504	0																0													144	130	135					6																	46806754		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2122C>T	6.37:g.46806754C>T	ENSP00000230588:p.Arg708Cys		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.R708C	ENST00000230588.4	37	c.2122	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	MEP1A	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC	MEP1A	-	pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom		0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	C	NM_005588		46806754	1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.991	T	T	46806754	C	T	46806754	3	4	54	1	0	0	0	0	1	0	0	0	9498	768	27	2	2176	2	MEP1A	6	46806754	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	5640867	46806754	124308313	110	7137										
LMBRD1	55788	genome.wustl.edu	37	chr6	70407490	70407490	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catcacatctctttggcacaGaaagggttgaattgccttta	8	9	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:70407490G>A	ENST00000370577.3	-	14	1611	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S388F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	461					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S461F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTTTGGCACAGAAAGGGTTGA	0.313																																																	1	Substitution - Missense(1)	ovary(1)											106	106	106					6																	70407490		2203	4300	6503	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1382C>T	6.37:g.70407490G>A	ENSP00000359609:p.Ser461Phe		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.S461F	ENST00000370577.3	37	c.1382	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057315	0.19907	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.18338	2.22;2.22	5.71	3.93	0.45458	.	0.590771	0.20063	N	0.100027	T	0.02418	0.0074	N	0.16478	0.41	0.21386	N	0.999709	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.09338	T	0.73	-1.6191	7.3492	0.26680	0.1546:0.141:0.7044:0.0	.	461	Q9NUN5	LMBD1_HUMAN	F	461;388	ENSP00000359609:S461F;ENSP00000359602:S388F	ENSP00000359602:S388F	S	-	2	0	LMBRD1	70464211	0.058000	0.20735	0.928000	0.36995	0.920000	0.55202	0.553000	0.23391	1.432000	0.47375	-0.143000	0.13931	TCT	LMBRD1	-	NULL		0.313	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	G	NM_018368		70407490	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	missense	SNP	0.320	A	A	70407490	G	A	70407490	3	1	54	1	0	0	0	0	1	0	0	0	8863	942	33	1	252	1	LMBRD1	6	70407490	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	23600736	70407490	100707577	111	7138										
MDN1	23195	genome.wustl.edu	37	chr6	90372609	90372609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aagcctctcatctagtttgtCagcttcctcaccattgagat	6	12	4	1	rs373924943		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:90372609C>T	ENST00000369393.3	-	86	14429	c.14314G>A	c.(14314-14316)Gac>Aac	p.D4772N	MDN1_ENST00000428876.1_Missense_Mutation_p.D4772N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4772					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTAGTTTGTCAGCTTCCTCA	0.468																																																	0								C	ASN/ASP	0,4406		0,0,2203	316	274	288		14314	4.5	1	6		288	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDN1	NM_014611.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4772/5597	90372609	1,13005	2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14314G>A	6.37:g.90372609C>T	ENSP00000358400:p.Asp4772Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4772N	ENST00000369393.3	37	c.14314	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013618	0.75161	0.0	1.16E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03065	4.06;4.06	5.39	4.52	0.55395	.	0.059112	0.64402	N	0.000005	T	0.02119	0.0066	M	0.66506	2.035	0.54753	D	0.999989	B	0.25390	0.125	B	0.26517	0.07	T	0.28459	-1.0043	10	0.11182	T	0.66	.	13.9636	0.64196	0.0:0.9272:0.0:0.0728	.	4772	Q9NU22	MDN1_HUMAN	N	4772	ENSP00000358400:D4772N;ENSP00000413970:D4772N	ENSP00000358400:D4772N	D	-	1	0	MDN1	90429330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.884000	0.75600	1.408000	0.46895	0.655000	0.94253	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90372609	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90372609	C	T	90372609	3	4	54	1	0	0	0	0	1	0	0	0	9438	826	29	1	2544	1	MDN1	6	90372609	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	19965119	90372609	80742458	112	7139										
MDN1	23195	genome.wustl.edu	37	chr6	90422436	90422436	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggccacagtcccatgccaaGaatggagtctccccaggttt	10	13	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:90422436G>A	ENST00000369393.3	-	48	7403	c.7288C>T	c.(7288-7290)Ctt>Ttt	p.L2430F	MDN1_ENST00000428876.1_Missense_Mutation_p.L2430F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2430					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCATGCCAAGAATGGAGTCT	0.463																																																	0													90	88	88					6																	90422436		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7288C>T	6.37:g.90422436G>A	ENSP00000358400:p.Leu2430Phe		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L2430F	ENST00000369393.3	37	c.7288	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703825	0.48412	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03689	3.84;3.84	5.74	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.01661	0.0053	N	0.24115	0.695	0.40453	D	0.980168	D	0.56035	0.974	P	0.49752	0.621	T	0.64368	-0.6424	10	0.20046	T	0.44	.	8.2977	0.31995	0.0701:0.0:0.6483:0.2816	.	2430	Q9NU22	MDN1_HUMAN	F	2430	ENSP00000358400:L2430F;ENSP00000413970:L2430F	ENSP00000358400:L2430F	L	-	1	0	MDN1	90479157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.607000	0.54102	1.430000	0.47334	0.563000	0.77884	CTT	MDN1	-	pirsf_Midasin		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90422436	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90422436	G	A	90422436	3	1	54	1	0	0	0	0	1	0	0	0	9438	942	33	1	9722	1	MDN1	6	90422436	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	49827	90422436	80692631	113	7140										
MCHR2	84539	genome.wustl.edu	37	chr6	100391006	100391006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgtcagtcgaaatggttggaCgagggcaaagtacctgcaaa	13	7	1	0	rs201793988		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:100391006C>T	ENST00000281806.2	-	4	720	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MCHR2_ENST00000369212.2_Missense_Mutation_p.V136I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AATGGTTGGACGAGGGCAAAG	0.463																																																	0													103	95	98					6																	100391006		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.406G>A	6.37:g.100391006C>T	ENSP00000281806:p.Val136Ile		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.V136I	ENST00000281806.2	37	c.406	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201596	0.79015	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.19806	2.12;2.12;2.12	4.95	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.34077	0.0885	M	0.77486	2.375	0.33312	D	0.566215	D	0.89917	1.0	D	0.87578	0.998	T	0.40794	-0.9544	10	0.72032	D	0.01	.	11.8062	0.52156	0.0:0.9135:0.0:0.0865	.	136	Q969V1	MCHR2_HUMAN	I	136	ENSP00000403490:V136I;ENSP00000281806:V136I;ENSP00000358214:V136I	ENSP00000281806:V136I	V	-	1	0	MCHR2	100497727	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.864000	0.48404	1.087000	0.41251	0.655000	0.94253	GTC	MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor		0.463	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	C	NM_032503		100391006	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100391006	C	T	100391006	3	4	54	1	0	0	0	0	1	0	0	0	9406	536	19	2	628	2	MCHR2	6	100391006	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	9968570	100391006	70724061	114	7141										
AIM1	202	genome.wustl.edu	37	chr6	107008788	107008788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcgccaaataggttctctacGaccttttgttcaggtatttt	7	9	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:107008788G>A	ENST00000369066.3	+	17	5229	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q	AIM1_ENST00000535438.1_Missense_Mutation_p.R400Q	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTTCTCTACGACCTTTTGTT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											151	153	153					6																	107008788		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4742G>A	6.37:g.107008788G>A	ENSP00000358062:p.Arg1581Gln		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R1581Q	ENST00000369066.3	37	c.4742	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.424585	0.96111	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	D;D	0.81739	-1.53;-1.53	6.06	6.06	0.98353	Ricin B-related lectin (1);Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.56097	D	0.000026	D	0.92795	0.7709	H	0.94886	3.595	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.93515	0.6856	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	400;1581	B4DU04;Q9Y4K1	.;AIM1_HUMAN	Q	1581;400	ENSP00000358062:R1581Q;ENSP00000439183:R400Q	ENSP00000358062:R1581Q	R	+	2	0	AIM1	107115481	1.000000	0.71417	0.902000	0.35471	0.991000	0.79684	6.339000	0.72969	2.882000	0.98803	0.655000	0.94253	CGA	AIM1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.378	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			107008788	1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.959	A	A	107008788	G	A	107008788	3	1	54	1	0	0	0	0	1	0	0	0	430	1058	37	1	4808	1	AIM1	6	107008788	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	6617782	107008788	64106279	115	7142										
AMD1	262	genome.wustl.edu	37	chr6	111213977	111213977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgataccaggttctgtcattGatgccacaatgttcaatcct	7	10	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:111213977G>A	ENST00000368885.3	+	7	991	c.655G>A	c.(655-657)Gat>Aat	p.D219N	AMD1_ENST00000451850.2_Missense_Mutation_p.D99N|AMD1_ENST00000368882.3_Missense_Mutation_p.D71N|AMD1_ENST00000368876.1_Missense_Mutation_p.D150N|AMD1_ENST00000368877.5_Missense_Mutation_p.D190N	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	219					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGTCATTGATGCCACAAT	0.383																																																	0													86	84	84					6																	111213977		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.655G>A	6.37:g.111213977G>A	ENSP00000357880:p.Asp219Asn		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.D219N	ENST00000368885.3	37	c.655	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.325852	0.95708	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.24	5.24	0.73138	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.84846	2.72	0.80722	D	1	D;D;D	0.61080	0.989;0.977;0.983	P;P;D	0.65573	0.906;0.568;0.936	T	0.71955	-0.4436	9	0.07325	T	0.83	.	19.1921	0.93671	0.0:0.0:1.0:0.0	.	99;190;219	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	N	219;71;99;190;150	.	ENSP00000357870:D150N	D	+	1	0	AMD1	111320670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.607000	0.88179	0.585000	0.79938	GAT	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111213977	1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111213977	G	A	111213977	3	1	54	1	0	0	0	0	1	0	0	0	566	1290	45	1	681	1	AMD1	6	111213977	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4205189	111213977	59901090	116	7143										
FAM184A	79632	genome.wustl.edu	37	chr6	119344130	119344130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tagctttgaggacaagatctGaagcttgctgttgtaaacgt	11	6	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:119344130G>A	ENST00000338891.7	-	3	1573	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	FAM184A_ENST00000368475.4_Missense_Mutation_p.S257L|FAM184A_ENST00000352896.5_Missense_Mutation_p.S257L|FAM184A_ENST00000522284.1_Missense_Mutation_p.S257L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.S377L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	377						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GACAAGATCTGAAGCTTGCTG	0.398																																																	0													165	157	160					6																	119344130		1929	4156	6085	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1130C>T	6.37:g.119344130G>A	ENSP00000342604:p.Ser377Leu		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.S377L	ENST00000338891.7	37	c.1130	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458238	0.84317	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.73	5.73	0.89815	.	0.059175	0.64402	D	0.000004	T	0.24547	0.0595	L	0.47716	1.5	0.52501	D	0.999954	P;P;P	0.43662	0.775;0.465;0.814	B;B;B	0.39217	0.23;0.178;0.294	T	0.02184	-1.1199	10	0.34782	T	0.22	-9.0749	19.9133	0.97031	0.0:0.0:1.0:0.0	.	377;257;377	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	L	377;257;257;377;257	ENSP00000342604:S377L;ENSP00000326608:S257L;ENSP00000357460:S257L;ENSP00000430442:S377L;ENSP00000429826:S257L	ENSP00000342604:S377L	S	-	2	0	FAM184A	119385829	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.241000	0.95402	2.721000	0.93114	0.655000	0.94253	TCA	FAM184A	-	NULL		0.398	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	G	NM_024581		119344130	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119344130	G	A	119344130	3	1	54	1	0	0	0	0	1	0	0	0	5526	1294	45	1	2356	1	FAM184A	6	119344130	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	8130153	119344130	51770937	117	7144										
GJA1	2697	genome.wustl.edu	37	chr6	121768982	121768982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gggaagcaccatctctaactCccatgcacagccttttgatt	7	13	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:121768982C>T	ENST00000282561.3	+	2	1146	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	330					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATCTCTAACTCCCATGCACAG	0.468																																																	0													77	79	78					6																	121768982		2203	4300	6503	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.989C>T	6.37:g.121768982C>T	ENSP00000282561:p.Ser330Phe		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.S330F	ENST00000282561.3	37	c.989	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292920	0.40594	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.81415	-1.49	4.88	4.88	0.63580	.	0.156786	0.41823	D	0.000803	T	0.70098	0.3185	N	0.24115	0.695	0.80722	D	1	P	0.34699	0.464	B	0.42738	0.396	T	0.74306	-0.3708	10	0.52906	T	0.07	.	18.5905	0.91210	0.0:1.0:0.0:0.0	.	330	P17302	CXA1_HUMAN	F	314;330	ENSP00000282561:S330F	ENSP00000282561:S330F	S	+	2	0	GJA1	121810681	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.278000	0.78587	2.694000	0.91930	0.585000	0.79938	TCC	GJA1	-	prints_Connexin43		0.468	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	C	NM_000165		121768982	1	no_errors	ENST00000282561	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121768982	C	T	121768982	3	4	54	1	0	0	0	0	1	0	0	0	6419	855	30	1	991	1	GJA1	6	121768982	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2424852	121768982	49346085	118	7145										
SAMD3	154075	genome.wustl.edu	37	chr6	130536361	130536361	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttgaaatctatgaactagctCtcctaaatttttctccacca	3	11	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:130536361C>T	ENST00000368134.2	-	5	666	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SAMD3_ENST00000437477.2_Missense_Mutation_p.E20K|SAMD3_ENST00000457563.2_Missense_Mutation_p.E44K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E20K|SAMD3_ENST00000532763.1_Missense_Mutation_p.E20K|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.E20K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	20	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAACTAGCTCTCCTAAATTT	0.393																																																	0													101	101	101					6																	130536361		2203	4300	6503	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.58G>A	6.37:g.130536361C>T	ENSP00000357116:p.Glu20Lys		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E20K	ENST00000368134.2	37	c.58	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032450	0.93575	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.9	5.9	0.94986	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000003	T	0.50309	0.1608	L	0.27053	0.805	0.49798	D	0.999825	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.71870	0.975;0.957;0.975	T	0.54111	-0.8342	10	0.72032	D	0.01	.	18.4605	0.90736	0.0:1.0:0.0:0.0	.	44;20;20	B4DY20;Q8N6K7-2;Q8N6K7	.;.;SAMD3_HUMAN	K	20;44;20;20;20;20;20;20;20	ENSP00000357116:E20K;ENSP00000402092:E44K;ENSP00000403565:E20K;ENSP00000391163:E20K;ENSP00000436088:E20K;ENSP00000324874:E20K;ENSP00000436115:E20K;ENSP00000435875:E20K;ENSP00000434139:E20K	ENSP00000324874:E20K	E	-	1	0	SAMD3	130578054	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.038000	0.64177	2.800000	0.96347	0.643000	0.83706	GAG	SAMD3	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.393	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	C	NM_152552		130536361	-1	no_errors	ENST00000368134	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130536361	C	T	130536361	3	4	54	1	0	0	0	0	1	0	0	0	13850	922	32	1	1560	1	SAMD3	6	130536361	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	8767379	130536361	40578706	119	7146										
TCF21	6943	genome.wustl.edu	37	chr6	134212874	134212874	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggccctttatggtggccggGaaacccgagagtgacctgaa	14	10	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:134212874G>T	ENST00000367882.4	+	2	734	c.474G>T	c.(472-474)ggG>ggT	p.G158G	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.G158G	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	158					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGGTGGCCGGGAAACCCGAGA	0.632																																																	0													46	47	46					6																	134212874		2203	4300	6503	SO:0001819	synonymous_variant	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.474G>T	6.37:g.134212874G>T			E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G158	ENST00000367882.4	37	c.474	CCDS5167.1	6																																																																																			TCF21	-	superfamily_HLH_dom		0.632	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	G	NM_198392		134212874	1	no_errors	ENST00000237316	ensembl	human	known	70_37	silent	SNP	0.982	T	T	134212874	G	T	134212874	2	4	54	1	0	0	0	0	0	0	0	1	15721	1161	41	3		3	TCF21	6	134212874	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3676513	134212874	36902193	120	7147										
GRM1	2911	genome.wustl.edu	37	chr6	146678717	146678717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atcgctatgactatgtgcacGttggaacctggcatgaagga	12	8	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:146678717G>A	ENST00000282753.1	+	5	1724	c.1489G>A	c.(1489-1491)Gtt>Att	p.V497I	GRM1_ENST00000392299.2_Missense_Mutation_p.V497I|GRM1_ENST00000355289.4_Missense_Mutation_p.V497I|GRM1_ENST00000361719.2_Missense_Mutation_p.V497I|GRM1_ENST00000492807.2_Missense_Mutation_p.V497I|GRM1_ENST00000507907.1_Missense_Mutation_p.V497I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	497					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTATGTGCACGTTGGAACCTG	0.413																																																	0													187	152	164					6																	146678717		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1489G>A	6.37:g.146678717G>A	ENSP00000282753:p.Val497Ile		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.V497I	ENST00000282753.1	37	c.1489	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	6.526	0.465323	0.12402	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.18	4.16	0.48862	.	0.149392	0.56097	N	0.000021	T	0.57989	0.2091	N	0.04203	-0.255	0.47994	D	0.999561	B;B;B	0.24368	0.017;0.001;0.102	B;B;B	0.20577	0.03;0.001;0.03	T	0.57365	-0.7824	10	0.22109	T	0.4	.	7.8059	0.29202	0.3696:0.0:0.6304:0.0	.	497;497;497	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	I	497	ENSP00000354896:V497I;ENSP00000376119:V497I;ENSP00000424095:V497I;ENSP00000282753:V497I;ENSP00000347437:V497I;ENSP00000425599:V497I	ENSP00000282753:V497I	V	+	1	0	GRM1	146720410	0.951000	0.32395	0.643000	0.29450	0.737000	0.42083	1.802000	0.38853	1.244000	0.43870	0.655000	0.94253	GTT	GRM1	-	prints_GPCR_3_mtglu_rcpt_1		0.413	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	G	NM_000838		146678717	1	no_errors	ENST00000282753	ensembl	human	known	70_37	missense	SNP	0.852	A	A	146678717	G	A	146678717	3	1	54	1	0	0	0	0	1	0	0	0	6816	1145	40	2	1507	2	GRM1	6	146678717	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	12465843	146678717	24436350	121	7148										
FNDC1	84624	genome.wustl.edu	37	chr6	159660765	159660765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cctgcctaccactacaacccCgaggcccaccactgccacca	5	22	0	0	rs372608984		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:159660765C>T	ENST00000297267.9	+	14	4597	c.4397C>T	c.(4396-4398)cCg>cTg	p.P1466L	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.P1403L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1466	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		actacaaccccgaggcccacc	0.642																																																	0								C	LEU/PRO	0,3536		0,0,1768	52	88	76		4397	-4.1	0	6		76	1,7117		0,1,3558	no	missense	FNDC1	NM_032532.2	98	0,1,5326	TT,TC,CC		0.014,0.0,0.0094	benign	1466/1895	159660765	1,10653	1768	3559	5327	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4397C>T	6.37:g.159660765C>T	ENSP00000297267:p.Pro1466Leu		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P1466L	ENST00000297267.9	37	c.4397	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	3.581	-0.085562	0.07097	0.0	1.4E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08193	3.12;3.95	4.44	-4.1	0.03940	.	1.160310	0.06430	N	0.723869	T	0.01320	0.0043	L	0.28115	0.83	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.47315	-0.9127	10	0.30078	T	0.28	0.3681	3.561	0.07882	0.0966:0.4788:0.1881:0.2365	.	1403;1466	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	1466;1403	ENSP00000297267:P1466L;ENSP00000342460:P1403L	ENSP00000297267:P1466L	P	+	2	0	FNDC1	159580755	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.548000	0.23314	-1.139000	0.02881	-3.064000	0.00068	CCG	FNDC1	-	NULL		0.642	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159660765	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.000	T	T	159660765	C	T	159660765	3	4	54	1	0	0	0	0	1	0	0	0	5986	652	23	2	4451	2	FNDC1	6	159660765	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	12982048	159660765	11454302	122	7149										
WTAP	9589	genome.wustl.edu	37	chr6	160169397	160169397	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtgcctggaagtttacgcctGataggtaaacaaatcatact	9	8	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:160169397G>C	ENST00000358372.4	+	6	2205	c.448G>C	c.(448-450)Gat>Cat	p.D150H	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.D150H	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	150					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTTTACGCCTGATAGGTAAAC	0.448																																																	0													78	74	75					6																	160169397		2203	4300	6503	SO:0001583	missense	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.448G>C	6.37:g.160169397G>C	ENSP00000351141:p.Asp150His		Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	NULL	p.D150H	ENST00000358372.4	37	c.448	CCDS5266.1	6	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620771	0.66787	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.56776	0.44;0.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.98;0.986	T	0.69165	-0.5217	10	0.87932	D	0	-4.1678	19.6107	0.95606	0.0:0.0:1.0:0.0	.	150;150	Q15007;Q5TCL9	FL2D_HUMAN;.	H	150	ENSP00000351141:D150H;ENSP00000336911:D150H	ENSP00000336911:D150H	D	+	1	0	WTAP	160089387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.774000	0.98992	2.648000	0.89879	0.655000	0.94253	GAT	WTAP	-	NULL		0.448	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	G	NM_152857		160169397	1	no_errors	ENST00000358372	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160169397	G	C	160169397	3	2	54	1	0	0	0	0	1	0	0	0	17440	1290	45	1	466	1	WTAP	6	160169397	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	508632	160169397	10945670	123	7150										
CARD11	84433	genome.wustl.edu	37	chr7	2979475	2979475	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctccttcttgggccgattttCaatgtcattcttcagtttta	6	10	5	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:2979475C>T	ENST00000396946.4	-	6	1175	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	258					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCCGATTTTCAATGTCATTC	0.473			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													169	159	163					7																	2979475		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.772G>A	7.37:g.2979475C>T	ENSP00000380150:p.Glu258Lys		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E258K	ENST00000396946.4	37	c.772	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	35	5.475283	0.96291	.	.	ENSG00000198286	ENST00000396946	T	0.35236	1.32	5.67	5.67	0.87782	.	0.050900	0.85682	D	0.000000	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P	0.50943	0.94	P	0.48901	0.594	T	0.23868	-1.0176	10	0.66056	D	0.02	-26.4004	19.836	0.96658	0.0:1.0:0.0:0.0	.	258	Q9BXL7	CAR11_HUMAN	K	258	ENSP00000380150:E258K	ENSP00000380150:E258K	E	-	1	0	CARD11	2946001	1.000000	0.71417	0.952000	0.39060	0.979000	0.70002	7.234000	0.78134	2.690000	0.91761	0.579000	0.79373	GAA	CARD11	-	NULL		0.473	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2979475	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2979475	C	T	2979475	3	4	54	1	0	0	0	0	1	0	0	0	2650	835	29	1	2772	1	CARD11	7	2979475	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		2979475	156159188	124	7151										
TRA2A	29896	genome.wustl.edu	37	chr7	23561455	23561455	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagattttgactgagagcgaGactcctaacaaagaagacag	11	7	0	6			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:23561455G>A	ENST00000297071.4	-	2	257	c.41C>T	c.(40-42)tCt>tTt	p.S14F	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	14					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CTGAGAGCGAGACTCCTAACA	0.423																																					Pancreas(121;2137 2973 46590)												0													74	68	70					7																	23561455		2203	4300	6503	SO:0001583	missense	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.41C>T	7.37:g.23561455G>A	ENSP00000297071:p.Ser14Phe		B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S14F	ENST00000297071.4	37	c.41	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086875	0.76642	.	.	ENSG00000164548	ENST00000297071	T	0.48522	0.81	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.66842	-0.5821	10	0.87932	D	0	-7.4374	19.9068	0.97010	0.0:0.0:1.0:0.0	.	14	Q13595	TRA2A_HUMAN	F	14	ENSP00000297071:S14F	ENSP00000297071:S14F	S	-	2	0	TRA2A	23527980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.497000	0.97970	2.718000	0.92993	0.585000	0.79938	TCT	TRA2A	-	NULL		0.423	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	G	NM_013293		23561455	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23561455	G	A	23561455	3	1	54	1	0	0	0	0	1	0	0	0	16464	942	33	1	835	1	TRA2A	7	23561455	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	20581980	23561455	135577208	125	7152										
HSPB1	3315	genome.wustl.edu	37	chr7	75933350	75933350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttcctcctccctgtcccctGagggcacactgaccgtggag	10	16	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:75933350G>A	ENST00000248553.6	+	3	647	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	160	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						CCTGTCCCCTGAGGGCACACT	0.647																																																	0													30	26	27					7																	75933350		2203	4300	6503	SO:0001583	missense	3315			X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"Heat shock proteins / HSPB"	5246	protein-coding gene	gene with protein product		602195	"heat shock 27kD protein 1"			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.478G>A	7.37:g.75933350G>A	ENSP00000248553:p.Glu160Lys		B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom	p.E160K	ENST00000248553.6	37	c.478	CCDS5583.1	7	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846795	0.91277	.	.	ENSG00000106211	ENST00000248553;ENST00000432276	D	0.92545	-3.06	4.65	4.65	0.58169	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.164682	0.53938	D	0.000059	D	0.90930	0.7149	L	0.45744	1.44	0.80722	D	1	B	0.27700	0.186	B	0.36186	0.219	D	0.90467	0.4450	10	0.87932	D	0	-23.086	16.6936	0.85328	0.0:0.0:1.0:0.0	.	160	P04792	HSPB1_HUMAN	K	160;125	ENSP00000248553:E160K	ENSP00000248553:E160K	E	+	1	0	HSPB1	75771286	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.821000	0.92009	2.420000	0.82092	0.555000	0.69702	GAG	HSPB1	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom		0.647	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB1	HGNC	protein_coding	OTTHUMT00000252958.1	G			75933350	1	no_errors	ENST00000248553	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75933350	G	A	75933350	3	1	54	1	0	0	0	0	1	0	0	0	7438	1291	45	1	488	1	HSPB1	7	75933350	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	52371895	75933350	83205313	126	7153										
HSPB1	3315	genome.wustl.edu	37	chr7	75933361	75933361	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctgtcccctgagggcacactGaccgtggaggcccccatgcc	12	17	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:75933361G>A	ENST00000248553.6	+	3	658	c.489G>A	c.(487-489)ctG>ctA	p.L163L	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	163	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						AGGGCACACTGACCGTGGAGG	0.637																																																	0													28	25	26					7																	75933361		2203	4300	6503	SO:0001819	synonymous_variant	3315			X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"Heat shock proteins / HSPB"	5246	protein-coding gene	gene with protein product		602195	"heat shock 27kD protein 1"			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.489G>A	7.37:g.75933361G>A			B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Silent	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom	p.L163	ENST00000248553.6	37	c.489	CCDS5583.1	7																																																																																			HSPB1	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom		0.637	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB1	HGNC	protein_coding	OTTHUMT00000252958.1	G			75933361	1	no_errors	ENST00000248553	ensembl	human	known	70_37	silent	SNP	0.998	A	A	75933361	G	A	75933361	2	1	54	1	0	0	0	0	0	0	0	1	7438	1277	45	1		1	HSPB1	7	75933361	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	11	75933361	83205302	127	7154										
TECPR1	25851	genome.wustl.edu	37	chr7	97857364	97857364	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acggggttccagcgctggttCtcatagatgtgaacacactt	11	10	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:97857364C>T	ENST00000447648.2	-	17	2774	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000542604.1_Silent_p.E755E|TECPR1_ENST00000379795.3_Silent_p.E826E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	825					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCGCTGGTTCTCATAGATGT	0.592																																																	0													67	73	71					7																	97857364		2130	4234	6364	SO:0001819	synonymous_variant	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2475G>A	7.37:g.97857364C>T			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.E826	ENST00000447648.2	37	c.2478	CCDS47648.1	7																																																																																			TECPR1	-	smart_Peroxin/Ferlin		0.592	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	C	NM_015395		97857364	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	silent	SNP	1.000	T	T	97857364	C	T	97857364	2	4	54	1	0	0	0	0	0	0	0	1	15773	912	32	1		1	TECPR1	7	97857364	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	21924003	97857364	61281299	128	7155										
EPHB4	2050	genome.wustl.edu	37	chr7	100414848	100414848	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggctgtgatgttcctggccGaagggcccgtagccggcctc	15	13	0	1	rs148818692		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:100414848G>A	ENST00000358173.3	-	8	2022	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Silent_p.F518F	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	518	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTCCTGGCCGAAGGGCCCGT	0.652																																					GBM(200;2113 3072 25865 52728)												0								G		0,4404		0,0,2202	18	19	18		1554	-6.7	0.5	7	dbSNP_134	18	1,8597		0,1,4298	no	coding-synonymous	EPHB4	NM_004444.4		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		518/988	100414848	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1554C>T	7.37:g.100414848G>A			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F518	ENST00000358173.3	37	c.1554	CCDS5706.1	7																																																																																			EPHB4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.652	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100414848	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	0.757	A	A	100414848	G	A	100414848	2	1	54	1	0	0	0	0	0	0	0	1	5189	1049	37	1		1	EPHB4	7	100414848	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2557484	100414848	58723815	129	7156										
FAM115C	285966	genome.wustl.edu	37	chr7	143400364	143400364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtccctgtcctggggctcccGtgggagtgcatccatccctg	13	15	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:143400364G>A	ENST00000441159.2	+	2	343	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	FAM115C_ENST00000411497.2_Intron|FAM115C_ENST00000357344.4_Missense_Mutation_p.V93M|FAM115C_ENST00000444908.2_Missense_Mutation_p.V93M			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	93					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TGGGGCTCCCGTGGGAGTGCA	0.582																																																	0													54	62	60					7																	143400364		1587	3583	5170	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.277G>A	7.37:g.143400364G>A	ENSP00000404265:p.Val93Met		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.V93M	ENST00000441159.2	37	c.277		7	.	.	.	.	.	.	.	.	.	.	G	7.602	0.672983	0.14776	.	.	ENSG00000170379	ENST00000444908;ENST00000357344;ENST00000441159	T;T;T	0.44083	0.93;0.93;0.93	3.92	-2.14	0.07123	.	0.392282	0.25964	N	0.027164	T	0.56292	0.1975	M	0.76838	2.35	0.09310	N	1	D	0.63046	0.992	P	0.61592	0.891	T	0.56553	-0.7960	10	0.62326	D	0.03	-0.0445	11.6648	0.51368	0.3578:0.0:0.6422:0.0	.	93	A6NFQ2-2	.	M	93	ENSP00000412724:V93M;ENSP00000349902:V93M;ENSP00000404265:V93M	ENSP00000349902:V93M	V	+	1	0	FAM115C	143031297	0.019000	0.18553	0.000000	0.03702	0.066000	0.16364	0.348000	0.20031	-1.194000	0.02684	-1.842000	0.00583	GTG	FAM115C	-	NULL		0.582	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	G	NM_173678		143400364	1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.000	A	A	143400364	G	A	143400364	3	1	54	1	0	0	0	0	1	0	0	0	5421	1145	40	2	279	2	FAM115C	7	143400364	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	42985516	143400364	15738299	130	7157										
MLL3	58508	genome.wustl.edu	37	chr7	151945201	151945201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctgccttgcttatgtctgctGatgatgaaaatgatgactct	9	8	2	5			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:151945201G>A	ENST00000262189.6	-	14	2536	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S773L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	773					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TATGTCTGCTGATGATGAAAA	0.423																																																	0													170	150	156					7																	151945201		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2318C>T	7.37:g.151945201G>A	ENSP00000262189:p.Ser773Leu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S773L	ENST00000262189.6	37	c.2318	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.129092	0.06753	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.79;-1.79	5.46	3.63	0.41609	.	1.240240	0.06155	N	0.674957	T	0.74794	0.3763	N	0.24115	0.695	0.21579	N	0.999632	B	0.28713	0.22	B	0.22386	0.039	T	0.62599	-0.6820	10	0.62326	D	0.03	.	11.2294	0.48903	0.0696:0.1279:0.8025:0.0	.	773	Q8NEZ4	MLL3_HUMAN	L	773	ENSP00000262189:S773L;ENSP00000347325:S773L	ENSP00000262189:S773L	S	-	2	0	MLL3	151576134	0.094000	0.21725	0.002000	0.10522	0.060000	0.15804	2.152000	0.42272	0.649000	0.30751	0.650000	0.86243	TCA	MLL3	-	NULL		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151945201	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.011	A	A	151945201	G	A	151945201	3	1	54	1	0	0	0	0	1	0	0	0	9645	1294	45	1	12601	1	MLL3	7	151945201	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	8544837	151945201	7193462	131	7158										
SOX7	83595	genome.wustl.edu	37	chr8	10583602	10583602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggacagccgggtacaggggaCatcatggagacgccggggga	19	9	1	1	rs535710246|rs375844109	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:10583602C>A	ENST00000304501.1	-	2	891	c.813G>T	c.(811-813)atG>atT	p.M271I	SOX7_ENST00000554914.1_Missense_Mutation_p.M323I|SOX7_ENST00000553390.1_Missense_Mutation_p.M323I	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	271	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GTACAGGGGACATCATGGAGA	0.672																																																	0													27	34	32					8																	10583602		2196	4299	6495	SO:0001583	missense	83595			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.813G>T	8.37:g.10583602C>A	ENSP00000301921:p.Met271Ile		B4DKV0|Q53YD0	Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily	p.M323I	ENST00000304501.1	37	c.969	CCDS5977.1	8	.	.	.	.	.	.	.	.	.	.	C	5.775	0.327440	0.10956	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76186	-1.0;-1.0;-1.0	4.89	3.95	0.45737	.	0.173783	0.49305	D	0.000153	T	0.51652	0.1687	N	0.05351	-0.065	0.27582	N	0.94954	B;B	0.12630	0.006;0.0	B;B	0.11329	0.006;0.001	T	0.41787	-0.9489	10	0.33940	T	0.23	.	9.1759	0.37112	0.1296:0.6647:0.2057:0.0	.	323;271	B4DKV0;Q9BT81	.;SOX7_HUMAN	I	271;323;323	ENSP00000301921:M271I;ENSP00000452017:M323I;ENSP00000451145:M323I	ENSP00000346908:M323I	M	-	3	0	SOX7;CTD-2135J3.4	10621012	0.997000	0.39634	0.998000	0.56505	0.390000	0.30446	0.843000	0.27640	2.241000	0.73720	0.462000	0.41574	ATG	SOX7	-	pfam_Sox_C_TAD		0.672	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1	C			10583602	-1	no_errors	ENST00000553390	ensembl	human	known	70_37	missense	SNP	0.997	A	A	10583602	C	A	10583602	3	1	54	1	0	0	0	0	1	0	0	0	14986	478	17	4	357	4	SOX7	8	10583602	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		10583602	135780420	132	7159										
USP17L2	377630	genome.wustl.edu	37	chr8	11995989	11995990	+	Frame_Shift_Ins	INS	-	-	A													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtatgtcaggcactgcagggINSaagcgttctcgtagcaggta					rs533374101		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:11995989_11995990insA	ENST00000333796.3	-	1	596_597	c.280_281insT	c.(280-282)tccfs	p.S94fs	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	94	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCACTGCAGGGAAGCGTTCTCG	0.569																																																	0																																										SO:0001589	frameshift_variant	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.281dupT	8.37:g.11995991_11995991dupA	ENSP00000333329:p.Ser94fs			Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.S94fs	ENST00000333796.3	37	c.281_280	CCDS43713.1	8																																																																																			USP17L2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.569	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	NM_201402		11995990	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	frame_shift_ins	INS	0.963:0.934	A	A	11995990	-	A	11995989	7	5	54	1	0	1	1	0	0	0	0	0	17079	1174	41	0	1315	0	USP17L2	8	11995989	Frame_Shift_Ins	INS	-	TCGA-DG-A2KK-01A-11D-A17W-09	1412387	11995989	134368033	133	7160										
ESCO2	157570	genome.wustl.edu	37	chr8	27633891	27633891	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttttatagccttttacacttCactgaaaatctgtttccatc	3	10	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:27633891C>T	ENST00000305188.8	+	3	304	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	22					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTTTACACTTCACTGAAAATC	0.313									SC Phocomelia syndrome																																								0													27	29	28					8																	27633891		2199	4299	6498	SO:0001819	synonymous_variant	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.66C>T	8.37:g.27633891C>T			B3KW59|Q49AP4	Silent	SNP	NULL	p.F22	ENST00000305188.8	37	c.66	CCDS34872.1	8																																																																																			ESCO2	-	NULL		0.313	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	C	NM_001017420		27633891	1	no_errors	ENST00000305188	ensembl	human	known	70_37	silent	SNP	0.089	T	T	27633891	C	T	27633891	2	4	54	1	0	0	0	0	0	0	0	1	5261	825	29	1		1	ESCO2	8	27633891	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	15637902	27633891	118730131	134	7161										
BAG4	9530	genome.wustl.edu	37	chr8	38065202	38065202	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caacagcccaactccagtctCtcgttggatctatccccagc	6	17	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:38065202C>T	ENST00000287322.4	+	3	822	c.551C>T	c.(550-552)tCt>tTt	p.S184F	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.S148F	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	184					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				ACTCCAGTCTCTCGTTGGATC	0.502																																																	0													92	89	90					8																	38065202		2203	4300	6503	SO:0001583	missense	9530			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.551C>T	8.37:g.38065202C>T	ENSP00000287322:p.Ser184Phe		B4E217|O95818	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.S184F	ENST00000287322.4	37	c.551	CCDS6104.1	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191361	0.78902	.	.	ENSG00000156735	ENST00000432471;ENST00000287322;ENST00000521311	D;D	0.82984	-1.58;-1.67	5.3	4.43	0.53597	.	0.193798	0.46145	D	0.000308	T	0.80237	0.4586	L	0.60455	1.87	0.31503	N	0.664573	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.79955	-0.1585	10	0.72032	D	0.01	-11.1965	13.2927	0.60280	0.0:0.9234:0.0:0.0766	.	148;184	B4E217;O95429	.;BAG4_HUMAN	F	148;184;31	ENSP00000393298:S148F;ENSP00000287322:S184F	ENSP00000287322:S184F	S	+	2	0	BAG4	38184359	0.319000	0.24607	0.982000	0.44146	0.983000	0.72400	2.195000	0.42677	1.224000	0.43551	0.650000	0.86243	TCT	BAG4	-	NULL		0.502	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG4	HGNC	protein_coding	OTTHUMT00000377038.2	C	NM_004874		38065202	1	no_errors	ENST00000287322	ensembl	human	known	70_37	missense	SNP	0.634	T	T	38065202	C	T	38065202	3	4	54	1	0	0	0	0	1	0	0	0	1290	913	32	1	561	1	BAG4	8	38065202	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	10431311	38065202	108298820	135	7162										
ANK1	286	genome.wustl.edu	37	chr8	41546047	41546047	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acctggtgtggactcactgaGaatgctgtatcgcagggcca	13	10	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:41546047G>A	ENST00000347528.4	-	34	4248	c.4165C>T	c.(4165-4167)Ctc>Ttc	p.L1389F	ANK1_ENST00000289734.7_Missense_Mutation_p.L1389F|ANK1_ENST00000379758.2_Missense_Mutation_p.L1389F|ANK1_ENST00000352337.4_Missense_Mutation_p.L1389F|ANK1_ENST00000396942.1_Missense_Mutation_p.L1389F|ANK1_ENST00000396945.1_Missense_Mutation_p.L1389F|ANK1_ENST00000265709.8_Missense_Mutation_p.L1430F	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1389	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACTCACTGAGAATGCTGTAT	0.587																																																	0													127	95	106					8																	41546047		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4165C>T	8.37:g.41546047G>A	ENSP00000339620:p.Leu1389Phe		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.L1389F	ENST00000347528.4	37	c.4165	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990120|2.990120	0.54041|0.54041	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.69685|.	-0.42;-0.42;-0.39;-0.38;-0.4;-0.38;-0.42|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.140005|.	0.48767|.	D|.	0.000165|.	T|T	0.73536|0.73536	0.3599|0.3599	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;B;B;D;D|.	0.67145|.	0.987;0.996;0.117;0.313;0.987;0.983|.	D;D;B;B;D;P|.	0.68192|.	0.937;0.943;0.14;0.188;0.956;0.753|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.40728|.	T|.	0.16|.	.|.	16.5798|16.5798	0.84712|0.84712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1430;1389;1389;1389;1389;705|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	F|F	1389;1389;1389;1389;1389;1389;1430;1389|710	ENSP00000339620:L1389F;ENSP00000289734:L1389F;ENSP00000369082:L1389F;ENSP00000380149:L1389F;ENSP00000380147:L1389F;ENSP00000309131:L1389F;ENSP00000265709:L1430F|.	ENSP00000265709:L1430F|.	L|S	-|-	1|2	0|0	ANK1|ANK1	41665204|41665204	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.053000|0.053000	0.15095|0.15095	4.624000|4.624000	0.61254|0.61254	2.579000|2.579000	0.87056|0.87056	0.462000|0.462000	0.41574|0.41574	CTC|TCT	ANK1	-	NULL		0.587	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	G	NM_020475		41546047	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	missense	SNP	0.997	A	A	41546047	G	A	41546047	3	1	54	1	0	0	0	0	1	0	0	0	620	942	33	1	1842	1	ANK1	8	41546047	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3480845	41546047	104817975	136	7163										
TSPYL5	85453	genome.wustl.edu	37	chr8	98289400	98289400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cccaaacttcctggagagccGaaggtaggccctgtccgcct	11	15	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:98289400G>A	ENST00000322128.3	-	1	776	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	225					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTGGAGAGCCGAAGGTAGGCC	0.602																																																	0													69	70	70					8																	98289400		2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.673C>T	8.37:g.98289400G>A	ENSP00000322802:p.Arg225Trp		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.R225W	ENST00000322128.3	37	c.673	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599347	0.66332	.	.	ENSG00000180543	ENST00000322128	T	0.32272	1.46	4.18	3.25	0.37280	.	0.222677	0.22489	N	0.059399	T	0.50034	0.1592	M	0.71206	2.165	0.38956	D	0.958452	D	0.89917	1.0	D	0.77557	0.99	T	0.54761	-0.8245	10	0.87932	D	0	-14.3161	8.6559	0.34062	0.0:0.0:0.7093:0.2907	.	225	Q86VY4	TSYL5_HUMAN	W	225	ENSP00000322802:R225W	ENSP00000322802:R225W	R	-	1	2	TSPYL5	98358576	0.145000	0.22656	0.502000	0.27614	0.946000	0.59487	2.023000	0.41040	1.255000	0.44051	0.563000	0.77884	CGG	TSPYL5	-	pfam_NAP_family		0.602	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	G	NM_033512		98289400	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.678	A	A	98289400	G	A	98289400	3	1	54	1	0	0	0	0	1	0	0	0	16693	1057	37	1	584	1	TSPYL5	8	98289400	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	56743353	98289400	48074622	137	7164										
RIMS2	9699	genome.wustl.edu	37	chr8	104927785	104927785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttattactaaagtaaaaaaAggaagtttagctgatactgt	7	3	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:104927785A>C	ENST00000436393.2	+	5	1450	c.1209A>C	c.(1207-1209)aaA>aaC	p.K403N	RIMS2_ENST00000406091.3_Missense_Mutation_p.K625N|RIMS2_ENST00000507740.1_Missense_Mutation_p.K433N|RIMS2_ENST00000262231.10_Missense_Mutation_p.K480N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	703					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGTAAAAAAAGGAAGTTTAG	0.323										HNSCC(12;0.0054)																																							0													101	95	97					8																	104927785		1820	4078	5898	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1209A>C	8.37:g.104927785A>C	ENSP00000390665:p.Lys403Asn		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.K625N	ENST00000436393.2	37	c.1875		8	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208995	0.58343	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.98	2.02	0.26589	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51975	0.1706	M	0.81112	2.525	0.80722	D	1	D;P;D;D;D;P	0.61697	0.974;0.827;0.99;0.968;0.968;0.916	D;P;D;P;P;P	0.71656	0.94;0.895;0.974;0.857;0.647;0.642	T	0.52177	-0.8610	9	0.87932	D	0	.	8.7828	0.34802	0.6824:0.0:0.3176:0.0	.	703;703;403;480;433;625	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	N	625;656;625;703;16;433;480;433;433;403	ENSP00000427018:K625N;ENSP00000384892:K625N;ENSP00000425205:K433N;ENSP00000262231:K480N;ENSP00000423559:K433N;ENSP00000386228:K433N;ENSP00000390665:K403N	ENSP00000262231:K480N	K	+	3	2	RIMS2	104996961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.849000	0.39318	0.416000	0.25844	-0.263000	0.10527	AAA	RIMS2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	A	NM_001100117		104927785	1	no_errors	ENST00000406091	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104927785	A	C	104927785	3	2	54	1	0	0	0	0	1	0	0	0	13398	69	3	5	2027	5	RIMS2	8	104927785	Missense_Mutation	SNP	A	TCGA-DG-A2KK-01A-11D-A17W-09	6638385	104927785	41436237	138	7165										
RIMS2	9699	genome.wustl.edu	37	chr8	104933999	104933999	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggatgtcccacagttcttatCaggacaactttcagtatgta	8	9	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:104933999C>G	ENST00000436393.2	+	8	1758	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.S728*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.S536*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.S583*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	806					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGTTCTTATCAGGACAACTT	0.353										HNSCC(12;0.0054)																																							0													146	132	137					8																	104933999		1851	4093	5944	SO:0001587	stop_gained	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1517C>G	8.37:g.104933999C>G	ENSP00000390665:p.Ser506*		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.S728*	ENST00000436393.2	37	c.2183		8	.	.	.	.	.	.	.	.	.	.	C	39	7.561352	0.98358	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.1576	0.98120	0.0:1.0:0.0:0.0	.	.	.	.	X	728;759;728;806;536;583;536;536;506	.	ENSP00000262231:S583X	S	+	2	0	RIMS2	105003175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.746000	0.85057	2.773000	0.95371	0.650000	0.86243	TCA	RIMS2	-	NULL		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	C	NM_001100117		104933999	1	no_errors	ENST00000406091	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	104933999	C	G	104933999	4	3	54	1	0	0	0	0	0	1	0	0	13398	838	29	1	2347	1	RIMS2	8	104933999	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6214	104933999	41430023	139	7166										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110478940	110478940	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agctttcaccgtttagcgttCaaccagccttctccagtatc	6	14	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:110478940C>T	ENST00000378402.5	+	50	8651	c.8547C>T	c.(8545-8547)ttC>ttT	p.F2849F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2849					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTAGCGTTCAACCAGCCTT	0.408										HNSCC(38;0.096)																																							0													143	133	136					8																	110478940		1943	4149	6092	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8547C>T	8.37:g.110478940C>T			Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.F2849	ENST00000378402.5	37	c.8547	CCDS47911.1	8																																																																																			PKHD1L1	-	NULL		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110478940	1	no_errors	ENST00000378402	ensembl	human	known	70_37	silent	SNP	1.000	T	T	110478940	C	T	110478940	2	4	54	1	0	0	0	0	0	0	0	1	11996	825	29	1		1	PKHD1L1	8	110478940	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	5544941	110478940	35885082	140	7167										
ASAP1	50807	genome.wustl.edu	37	chr8	131200418	131200418	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtgaagatcacattgtggctCaaaccctggagctgaaaaag	11	8	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:131200418C>T	ENST00000518721.1	-	6	644	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ASAP1_ENST00000357668.1_Silent_p.L139L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	139					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CATTGTGGCTCAAACCCTGGA	0.373																																																	0													106	109	108					8																	131200418		2203	4300	6503	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.417G>A	8.37:g.131200418C>T			B2RNV3	Silent	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L139	ENST00000518721.1	37	c.417	CCDS6362.1	8																																																																																			ASAP1	-	NULL		0.373	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	C	NM_018482		131200418	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131200418	C	T	131200418	2	4	54	1	0	0	0	0	0	0	0	1	1011	825	29	1		1	ASAP1	8	131200418	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	20721478	131200418	15163604	141	7168										
ADCY8	114	genome.wustl.edu	37	chr8	131859744	131859744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cttcaagggtatcgacttgtCaaaatcacaccacagctgcg	8	12	3	0	rs201870639		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:131859744C>G	ENST00000286355.5	-	11	4520	c.2428G>C	c.(2428-2430)Gac>Cac	p.D810H	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	810					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGACTTGTCAAAATCACAC	0.393										HNSCC(32;0.087)																																							0								C	HIS/ASP	0,4406		0,0,2203	62	62	62		2428	6.1	1	8		62	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADCY8	NM_001115.2	81	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	810/1252	131859744	2,13004	2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2428G>C	8.37:g.131859744C>G	ENSP00000286355:p.Asp810His			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D810H	ENST00000286355.5	37	c.2428	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896442	0.91962	0.0	2.33E-4	ENSG00000155897	ENST00000286355	T	0.44083	0.93	6.06	6.06	0.98353	.	0.175397	0.50627	D	0.000115	T	0.43875	0.1267	L	0.44542	1.39	0.80722	D	1	P	0.46912	0.886	B	0.43867	0.434	T	0.23440	-1.0188	10	0.46703	T	0.11	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	810	P40145	ADCY8_HUMAN	H	810	ENSP00000286355:D810H	ENSP00000286355:D810H	D	-	1	0	ADCY8	131928926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.193000	0.65120	2.882000	0.98803	0.655000	0.94253	GAC	ADCY8	-	NULL		0.393	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131859744	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131859744	C	G	131859744	3	3	54	1	0	0	0	0	1	0	0	0	300	826	29	1	1359	1	ADCY8	8	131859744	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	659326	131859744	14504278	142	7169										
GPAA1	8733	genome.wustl.edu	37	chr8	145139652	145139652	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagggcatgttccgcaagctCaaccacctcctggagcgcct	11	15	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:145139652C>G	ENST00000355091.4	+	8	1159	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	GPAA1_ENST00000361036.6_Silent_p.L286L|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCGCAAGCTCAACCACCTCC	0.652																																																	0													68	76	73					8																	145139652		2050	4170	6220	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1038C>G	8.37:g.145139652C>G			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L346	ENST00000355091.4	37	c.1038	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.652	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	C	NM_003801		145139652	1	no_errors	ENST00000355091	ensembl	human	known	70_37	silent	SNP	1.000	G	G	145139652	C	G	145139652	2	3	54	1	0	0	0	0	0	0	0	1	6606	813	29	1		1	GPAA1	8	145139652	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	13279908	145139652	1224370	143	7170										
CBWD1	55871	genome.wustl.edu	37	chr9	173313	173313	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtttctaagttccagccactCttcatagagctctccacctt	5	14	4	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:173313C>A	ENST00000356521.4	-	3	383	c.295G>T	c.(295-297)Gag>Tag	p.E99*	CBWD1_ENST00000377400.4_Nonsense_Mutation_p.E99*|CBWD1_ENST00000314367.10_Nonsense_Mutation_p.E63*|CBWD1_ENST00000377447.3_Nonsense_Mutation_p.E99*|CBWD1_ENST00000431099.2_Nonsense_Mutation_p.E63*|CBWD1_ENST00000382393.1_Nonsense_Mutation_p.E99*|CBWD1_ENST00000382447.4_Nonsense_Mutation_p.E99*|CBWD1_ENST00000382389.1_Nonsense_Mutation_p.E63*	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	99							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCAGCCACTCTTCATAGAGC	0.403																																																	0													4	5	5					9																	173313		1654	3695	5349	SO:0001587	stop_gained	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.295G>T	9.37:g.173313C>A	ENSP00000348915:p.Glu99*		A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Nonsense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.E99*	ENST00000356521.4	37	c.295	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	37	6.025710	0.97216	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347;ENST00000417415;ENST00000382393;ENST00000382389	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.0172	16.2016	0.82087	0.0:1.0:0.0:0.0	.	.	.	.	X	99;99;99;63;99;63;99;99;99;63	.	ENSP00000323433:E63X	E	-	1	0	CBWD1	163313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.718000	0.74713	2.125000	0.65367	0.479000	0.44913	GAG	CBWD1	-	pfam_CobW/HypB/UreG_dom		0.403	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	C	NM_018491		173313	-1	no_errors	ENST00000356521	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	173313	C	A	173313	4	1	54	1	0	0	0	0	0	1	0	0	2717	922	32	3	944	3	CBWD1	9	173313	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		173313	141040118	144	7171										
DENND4C	55667	genome.wustl.edu	37	chr9	19300261	19300261	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgctgctctttgttttacttGagagtaaaattctgctgcat	8	7	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:19300261G>C	ENST00000380432.2	+	5	568	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	DENND4C_ENST00000602925.1_Missense_Mutation_p.E415Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.E415Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	179	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTTTTACTTGAGAGTAAAAT	0.398																																																	0													182	160	167					9																	19300261		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.535G>C	9.37:g.19300261G>C	ENSP00000369797:p.Glu179Gln		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E179Q	ENST00000380432.2	37	c.535		9	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918422	0.92249	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.95	4.95	0.65309	DENN (3);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89466	0.3740	9	0.87932	D	0	-19.1227	18.7218	0.91698	0.0:0.0:1.0:0.0	.	179	Q5VZ89	DEN4C_HUMAN	Q	179	.	ENSP00000369802:E179Q	E	+	1	0	DENND4C	19290261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.730000	0.93505	0.484000	0.47621	GAG	DENND4C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.398	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		G	NM_017925		19300261	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19300261	G	C	19300261	3	2	54	1	0	0	0	0	1	0	0	0	4445	1291	45	1	553	1	DENND4C	9	19300261	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	19126948	19300261	121913170	145	7172										
SLC24A2	25769	genome.wustl.edu	37	chr9	19786828	19786828	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctcatccaaacaccatttctCtagggaagtgatggtggtgc	10	10	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:19786828C>T	ENST00000341998.2	-	1	98	c.37G>A	c.(37-39)Gag>Aag	p.E13K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E13K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	13					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CACCATTTCTCTAGGGAAGTG	0.428																																																	0													138	134	135					9																	19786828		2203	4300	6503	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.37G>A	9.37:g.19786828C>T	ENSP00000344801:p.Glu13Lys		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.E13K	ENST00000341998.2	37	c.37	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633739	0.47049	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75821	-0.96;-0.97	5.83	3.95	0.45737	.	0.620653	0.16636	N	0.205836	T	0.59945	0.2231	N	0.24115	0.695	0.40395	D	0.979582	B;B	0.27971	0.196;0.1	B;B	0.26202	0.067;0.014	T	0.51601	-0.8685	9	.	.	.	.	12.7762	0.57451	0.1275:0.7429:0.1296:0.0	.	13;13	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	K	13	ENSP00000344801:E13K;ENSP00000286344:E13K	.	E	-	1	0	SLC24A2	19776828	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	4.142000	0.58044	0.762000	0.33152	0.650000	0.86243	GAG	SLC24A2	-	NULL		0.428	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	C	NM_020344		19786828	-1	no_errors	ENST00000341998	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19786828	C	T	19786828	3	4	54	1	0	0	0	0	1	0	0	0	14496	922	32	1	1988	1	SLC24A2	9	19786828	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	486567	19786828	121426603	146	7173										
ZNF658	26149	genome.wustl.edu	37	chr9	40774728	40774728	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ataagatttctcttcagcatGagctttctcatgcttaatat	5	8	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:40774728G>A	ENST00000602553.1	-	5	841	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	ZNF658_ENST00000441795.1_Missense_Mutation_p.H181Y|ZNF658_ENST00000377626.3_Missense_Mutation_p.H183Y			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTTCAGCATGAGCTTTCTCA	0.313																																																	0													9	10	10					9																	40774728		1969	3893	5862	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.547C>T	9.37:g.40774728G>A	ENSP00000473484:p.His183Tyr		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H183Y	ENST00000602553.1	37	c.547	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	g	9.110	1.006382	0.19199	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.06608	3.37;3.28	1.81	-0.448	0.12230	.	.	.	.	.	T	0.13157	0.0319	L	0.60957	1.885	0.09310	N	1	D;D	0.69078	0.997;0.97	P;P	0.59288	0.855;0.58	T	0.14448	-1.0472	9	0.54805	T	0.06	.	5.3375	0.15965	0.0:0.2219:0.5519:0.2261	.	183;183	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Y	181;183	ENSP00000408462:H181Y;ENSP00000366853:H183Y	ENSP00000366853:H183Y	H	-	1	0	ZNF658	40764728	0.523000	0.26274	0.000000	0.03702	0.099000	0.18886	2.795000	0.47861	-0.083000	0.12618	0.391000	0.25812	CAT	ZNF658	-	NULL		0.313	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	G	NM_033160		40774728	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	missense	SNP	0.005	A	A	40774728	G	A	40774728	3	1	54	1	0	0	0	0	1	0	0	0	18099	1290	45	1	2636	1	ZNF658	9	40774728	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	20987900	40774728	100438703	147	7174										
SECISBP2	79048	genome.wustl.edu	37	chr9	91973638	91973638	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gctgttttctcattttagttGaaatctggaaaaaacatctg	7	6	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:91973638G>A	ENST00000375807.3	+	17	2535	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	SEMA4D_ENST00000469653.1_5'Flank|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E749K|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E754K	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	822					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CATTTTAGTTGAAATCTGGAA	0.428																																																	0													93	88	90					9																	91973638		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2464G>A	9.37:g.91973638G>A	ENSP00000364965:p.Glu822Lys		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.E822K	ENST00000375807.3	37	c.2464	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917368	0.17982	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.67698	-0.28;-0.26;-0.26	4.59	0.448	0.16614	.	0.239856	0.41097	N	0.000957	T	0.44726	0.1307	L	0.27053	0.805	0.30996	N	0.720819	B;B;B	0.23377	0.051;0.084;0.051	B;B;B	0.23419	0.01;0.046;0.02	T	0.31641	-0.9936	10	0.16420	T	0.52	-11.2926	6.0615	0.19841	0.1588:0.5679:0.2733:0.0	.	829;749;822	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	K	822;828;749;754	ENSP00000364965:E822K;ENSP00000364959:E749K;ENSP00000436650:E754K	ENSP00000364959:E749K	E	+	1	0	SECISBP2	91163458	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	1.439000	0.35013	0.226000	0.20979	0.655000	0.94253	GAA	SECISBP2	-	NULL		0.428	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	G	NM_024077		91973638	1	no_errors	ENST00000375807	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91973638	G	A	91973638	3	1	54	1	0	0	0	0	1	0	0	0	14036	1291	45	1	2530	1	SECISBP2	9	91973638	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	51198910	91973638	49239793	148	7175										
HIATL1	84641	genome.wustl.edu	37	chr9	97177517	97177517	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttctttgcgtggggcctgttGacaactccaatgttgactgt	11	9	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:97177517G>A	ENST00000375344.3	+	2	455	c.186G>A	c.(184-186)ttG>ttA	p.L62L	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	62					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GGGGCCTGTTGACAACTCCAA	0.398																																					Pancreas(77;1260 1915 1973 10423)												0													206	183	191					9																	97177517		2203	4300	6503	SO:0001819	synonymous_variant	84641			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.186G>A	9.37:g.97177517G>A			B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.L62	ENST00000375344.3	37	c.186	CCDS6710.2	9																																																																																			HIATL1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIATL1	HGNC	protein_coding	OTTHUMT00000053184.1	G	NM_032558		97177517	1	no_errors	ENST00000375344	ensembl	human	known	70_37	silent	SNP	0.998	A	A	97177517	G	A	97177517	2	1	54	1	0	0	0	0	0	0	0	1	7118	1281	45	1		1	HIATL1	9	97177517	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5203879	97177517	44035914	149	7176										
IKBKAP	8518	genome.wustl.edu	37	chr9	111660988	111660988	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaatcagattgagattgattCtcagctttctcatgcattca	6	8	4	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:111660988C>G	ENST00000374647.5	-	21	2553	c.2246G>C	c.(2245-2247)aGa>aCa	p.R749T	IKBKAP_ENST00000537196.1_Missense_Mutation_p.R400T	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	749					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGATTGATTCTCAGCTTTCT	0.348																																																	0													134	129	131					9																	111660988		2202	4300	6502	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2246G>C	9.37:g.111660988C>G	ENSP00000363779:p.Arg749Thr		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.R749T	ENST00000374647.5	37	c.2246	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705529	0.89018	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	.	0.128846	0.64402	D	0.000002	T	0.77811	0.4186	H	0.94264	3.515	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.84091	0.0390	10	0.87932	D	0	-4.5774	16.9167	0.86153	0.0:1.0:0.0:0.0	.	749	O95163	ELP1_HUMAN	T	749;400	ENSP00000363779:R749T;ENSP00000439367:R400T	ENSP00000363779:R749T	R	-	2	0	IKBKAP	110700809	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.603000	0.82811	2.665000	0.90641	0.650000	0.86243	AGA	IKBKAP	-	pfam_IKI3,pirsf_IKI3		0.348	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	C			111660988	-1	no_errors	ENST00000374647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111660988	C	G	111660988	3	3	54	1	0	0	0	0	1	0	0	0	7630	913	32	1	1820	1	IKBKAP	9	111660988	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	14483471	111660988	29552443	150	7177										
SLC27A4	10999	genome.wustl.edu	37	chr9	131105558	131105558	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cgggtcttcatcaagaccatCaggcgcgatatcttgtgagt	11	10	5	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:131105558C>G	ENST00000300456.4	+	2	264	c.147C>G	c.(145-147)atC>atG	p.I49M	SLC27A4_ENST00000372870.1_Missense_Mutation_p.Q77E	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	49					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCAAGACCATCAGGCGCGATA	0.582																																					Pancreas(107;1554 2241 10946 12953)												0													93	81	85					9																	131105558		2203	4300	6503	SO:0001583	missense	10999			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.147C>G	9.37:g.131105558C>G	ENSP00000300456:p.Ile49Met		A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.I49M	ENST00000300456.4	37	c.147	CCDS6899.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.04|11.04	1.522740|1.522740	0.27211|0.27211	.|.	.|.	ENSG00000167114|ENSG00000167114	ENST00000300456|ENST00000372870	T|T	0.52754|0.47869	0.65|0.83	5.4|5.4	2.09|2.09	0.27110|0.27110	.|.	0.616688|.	0.16555|.	N|.	0.209304|.	T|T	0.47691|0.47691	0.1459|0.1459	L|L	0.58101|0.58101	1.795|1.795	0.23585|0.23585	N|N	0.997351|0.997351	B|D	0.33135|0.54772	0.399|0.968	B|P	0.40066|0.54924	0.318|0.764	T|T	0.36817|0.36817	-0.9732|-0.9732	10|9	0.56958|0.07990	D|T	0.05|0.79	-10.2961|-10.2961	5.6539|5.6539	0.17633|0.17633	0.5147:0.3855:0.0:0.0997|0.5147:0.3855:0.0:0.0997	.|.	49|77	Q6P1M0|Q96G53	S27A4_HUMAN|.	M|E	49|77	ENSP00000300456:I49M|ENSP00000361961:Q77E	ENSP00000300456:I49M|ENSP00000361961:Q77E	I|Q	+|+	3|1	3|0	SLC27A4|SLC27A4	130145379|130145379	0.992000|0.992000	0.36948|0.36948	0.437000|0.437000	0.26809|0.26809	0.272000|0.272000	0.26649|0.26649	0.472000|0.472000	0.22116|0.22116	1.227000|1.227000	0.43598|0.43598	0.467000|0.467000	0.42956|0.42956	ATC|CAG	SLC27A4	-	NULL		0.582	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2	C			131105558	1	no_errors	ENST00000300456	ensembl	human	known	70_37	missense	SNP	0.355	G	G	131105558	C	G	131105558	3	3	54	1	0	0	0	0	1	0	0	0	14558	816	29	1	149	1	SLC27A4	9	131105558	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	19444570	131105558	10107873	151	7178										
FAM73B	84895	genome.wustl.edu	37	chr9	131832688	131832688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccagcagcgcaggcgtgaatGgggcgctgccccgagagaat	16	12	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:131832688G>A	ENST00000358369.4	+	16	1964	c.1738G>A	c.(1738-1740)Ggg>Agg	p.G580R	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	580					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGGCGTGAATGGGGCGCTGCC	0.711																																																	0													11	12	12					9																	131832688		2188	4267	6455	SO:0001583	missense	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1738G>A	9.37:g.131832688G>A	ENSP00000351138:p.Gly580Arg		Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	pfam_DUF2217	p.G580R	ENST00000358369.4	37	c.1738	CCDS6917.1	9	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444875	0.63178	.	.	ENSG00000148343	ENST00000358369	T	0.29397	1.57	5.67	5.67	0.87782	.	0.196946	0.53938	D	0.000054	T	0.54711	0.1875	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.972	T	0.54556	-0.8276	10	0.87932	D	0	.	18.7617	0.91855	0.0:0.0:1.0:0.0	.	156;580	Q96NP4;Q7L4E1	.;FA73B_HUMAN	R	580	ENSP00000351138:G580R	ENSP00000351138:G580R	G	+	1	0	FAM73B	130872509	1.000000	0.71417	0.835000	0.33067	0.025000	0.11179	7.443000	0.80521	2.668000	0.90789	0.655000	0.94253	GGG	FAM73B	-	NULL		0.711	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	G	NM_032809		131832688	1	no_errors	ENST00000358369	ensembl	human	known	70_37	missense	SNP	0.996	A	A	131832688	G	A	131832688	3	1	54	1	0	0	0	0	1	0	0	0	5636	1348	47	4	1796	4	FAM73B	9	131832688	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	727130	131832688	9380743	152	7179										
C9orf96	169436	genome.wustl.edu	37	chr9	136243391	136243391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcgccccacgcagggggagcGaggcccagggtcccccggag	18	16	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:136243391G>C	ENST00000371957.3	+	1	154	c.47G>C	c.(46-48)cGa>cCa	p.R16P	C9orf96_ENST00000371955.1_5'UTR|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000371989.3_5'Flank|C9orf96_ENST00000426926.2_Missense_Mutation_p.R16P|SURF4_ENST00000371991.3_5'Flank|SURF4_ENST00000485435.2_5'Flank|SURF4_ENST00000545297.1_5'Flank	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		16							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGGGGGAGCGAGGCCCAGGG	0.711																																																	0													17	21	19					9																	136243391		2188	4291	6479	SO:0001583	missense	169436																														ENST00000371957.3:c.47G>C	9.37:g.136243391G>C	ENSP00000361025:p.Arg16Pro		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R16P	ENST00000371957.3	37	c.47	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023313	0.54683	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T	0.69561	-0.41	3.2	2.26	0.28386	Protein kinase-like domain (1);	.	.	.	.	T	0.45736	0.1357	L	0.34521	1.04	0.22610	N	0.998936	P	0.44281	0.831	B	0.28232	0.087	T	0.24440	-1.0160	9	0.42905	T	0.14	1.692	7.9273	0.29883	0.0:0.0:0.753:0.247	.	16	Q8NE28	SGK71_HUMAN	P	16	ENSP00000361025:R16P	ENSP00000361025:R16P	R	+	2	0	C9orf96	135233212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.356000	0.20181	0.604000	0.29930	0.591000	0.81541	CGA	C9orf96	-	superfamily_Kinase-like_dom		0.711	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	G			136243391	1	no_errors	ENST00000371957	ensembl	human	known	70_37	missense	SNP	0.001	C	C	136243391	G	C	136243391	3	2	54	1	0	0	0	0	1	0	0	0	2513	1058	37	1	49	1	C9orf96	9	136243391	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4410703	136243391	4970040	153	7180										
COL5A1	1289	genome.wustl.edu	37	chr9	137642697	137642697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catggtctcagcccaggagtCccaggcgcaagccattctcc	10	16	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:137642697C>T	ENST00000371817.3	+	13	2045	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	544	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCAGGAGTCCCAGGCGCAA	0.637																																																	0													31	31	31					9																	137642697		2202	4300	6502	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1631C>T	9.37:g.137642697C>T	ENSP00000360882:p.Ser544Phe		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S544F	ENST00000371817.3	37	c.1631	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893651	0.72639	.	.	ENSG00000130635	ENST00000371817	D	0.89681	-2.55	4.67	4.67	0.58626	.	0.244501	0.33591	U	0.004749	D	0.82287	0.5004	N	0.08118	0	0.44373	D	0.997272	P	0.44578	0.838	P	0.44990	0.466	D	0.86702	0.1930	10	0.87932	D	0	.	16.7019	0.85351	0.0:1.0:0.0:0.0	.	544	P20908	CO5A1_HUMAN	F	544	ENSP00000360882:S544F	ENSP00000360882:S544F	S	+	2	0	COL5A1	136782518	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.764000	0.74960	2.293000	0.77203	0.655000	0.94253	TCC	COL5A1	-	NULL		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	C	NM_000093		137642697	1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137642697	C	T	137642697	3	4	54	1	0	0	0	0	1	0	0	0	3701	855	30	1	1681	1	COL5A1	9	137642697	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1399306	137642697	3570734	154	7181										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138710293	138710293	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gccggagtcgctgcacgactCttcccggtgcaccgacttcg	12	16	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:138710293C>G	ENST00000389532.4	-	13	4193	c.4129G>C	c.(4129-4131)Gag>Cag	p.E1377Q	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E1388Q|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E1099Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1377					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGCACGACTCTTCCCGGTGC	0.682																																																	0													35	36	35					9																	138710293		2203	4299	6502	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4129G>C	9.37:g.138710293C>G	ENSP00000374183:p.Glu1377Gln		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E1388Q	ENST00000389532.4	37	c.4162	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	34	5.385884	0.95967	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15834	2.39;2.39;2.39	5.44	5.44	0.79542	.	0.046947	0.85682	N	0.000000	T	0.42426	0.1202	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.937;0.964	T	0.28235	-1.0050	10	0.87932	D	0	-3.0357	19.2712	0.94010	0.0:1.0:0.0:0.0	.	1377;1388	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1377;1099;1388	ENSP00000374183:E1377Q;ENSP00000312463:E1099Q;ENSP00000386420:E1388Q	ENSP00000312463:E1099Q	E	-	1	0	CAMSAP1	137850114	1.000000	0.71417	0.745000	0.31077	0.977000	0.68977	7.513000	0.81739	2.555000	0.86185	0.655000	0.94253	GAG	CAMSAP1	-	NULL		0.682	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	C	XM_351857		138710293	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	1.000	G	G	138710293	C	G	138710293	3	3	54	1	0	0	0	0	1	0	0	0	2616	922	32	1	699	1	CAMSAP1	9	138710293	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1067596	138710293	2503138	155	7182										
CACNA1B	774	genome.wustl.edu	37	chr9	140807659	140807659	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gccacggctggaactgacttCgacctgcgaacactgagggc	13	13	0	2	rs565401082		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:140807659C>T	ENST00000371372.1	+	4	703	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNA1B_ENST00000277551.2_Silent_p.F186F|CACNA1B_ENST00000371355.4_Silent_p.F186F|CACNA1B_ENST00000371357.1_Silent_p.F186F|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.F186F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	186					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACTGACTTCGACCTGCGAA	0.572													C|||	1	0.000199681	0	0	5008	,	,		22442	0		0	False		,,,				2504	0.001																0													69	73	72					9																	140807659		2110	4218	6328	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.558C>T	9.37:g.140807659C>T			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.F186	ENST00000371372.1	37	c.558	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140807659	1	no_errors	ENST00000371355	ensembl	human	known	70_37	silent	SNP	0.907	T	T	140807659	C	T	140807659	2	4	54	1	0	0	0	0	0	0	0	1	2544	883	31	1		1	CACNA1B	9	140807659	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2097366	140807659	405772	156	7183										
KIAA1462	57608	genome.wustl.edu	37	chr10	30315869	30315869	+	Missense_Mutation	SNP	C	C	T													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gatttctattgtgcttgcttCacccaaagacccctctagct							TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:30315869C>T	ENST00000375377.1	-	3	3309	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1070					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGCTTGCTTCACCCAAAGAC	0.597																																																	0													164	160	162					10																	30315869		1915	4126	6041	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3208G>A	10.37:g.30315869C>T	ENSP00000364526:p.Glu1070Lys		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E1070K	ENST00000375377.1	37	c.3208	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344888	0.11126	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	4.98	-3.49	0.04724	.	1.607170	0.02933	N	0.139482	T	0.10465	0.0256	L	0.51422	1.61	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.25502	-1.0130	10	0.12103	T	0.63	-0.0121	2.1519	0.03802	0.1066:0.2068:0.3197:0.367	.	1070	Q9P266	K1462_HUMAN	K	1070	ENSP00000364526:E1070K	ENSP00000364526:E1070K	E	-	1	0	KIAA1462	30355875	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.614000	0.05604	-0.776000	0.04578	0.462000	0.41574	GAA	KIAA1462	-	NULL		0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30315869	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30315869	C	T	30315869	3	4	54	1	0	0	0	0	1	0	0	0	8254	835	29	1	879	1	KIAA1462	10	30315869	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		30315869	105218878	157	7184	36	2								
KIAA1462	57608	genome.wustl.edu	37	chr10	30315873	30315873	+	Missense_Mutation	SNP	C	C	G													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tctattgtgcttgcttcaccCaaagacccctctagctcact							TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:30315873C>G	ENST00000375377.1	-	3	3305	c.3204G>C	c.(3202-3204)ttG>ttC	p.L1068F		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1068					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCTTCACCCAAAGACCCCT	0.602																																																	0													164	161	162					10																	30315873		1915	4127	6042	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3204G>C	10.37:g.30315873C>G	ENSP00000364526:p.Leu1068Phe		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.L1068F	ENST00000375377.1	37	c.3204	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167517	0.09339	.	.	ENSG00000165757	ENST00000375377	T	0.14144	2.53	4.98	-1.52	0.08637	.	1.191220	0.06243	N	0.690798	T	0.12518	0.0304	L	0.56769	1.78	0.09310	N	1	B	0.21452	0.056	B	0.23150	0.044	T	0.41324	-0.9515	10	0.45353	T	0.12	-0.6884	1.0898	0.01661	0.3304:0.3112:0.095:0.2634	.	1068	Q9P266	K1462_HUMAN	F	1068	ENSP00000364526:L1068F	ENSP00000364526:L1068F	L	-	3	2	KIAA1462	30355879	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-1.391000	0.02525	-0.209000	0.10156	0.462000	0.41574	TTG	KIAA1462	-	NULL		0.602	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30315873	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30315873	C	G	30315873	3	3	54	1	0	0	0	0	1	0	0	0	8254	593	21	4	883	4	KIAA1462	10	30315873	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4	30315873	105218874	158	7185	36	2								
PARD3	56288	genome.wustl.edu	37	chr10	34558760	34558760	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gccaaatgtccgatgaaaatCttgaatttcagcatagtcac	7	9	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:34558760C>G	ENST00000374789.3	-	22	3578	c.3253G>C	c.(3253-3255)Gat>Cat	p.D1085H	PARD3_ENST00000374794.3_Missense_Mutation_p.D973H|PARD3_ENST00000545260.1_Missense_Mutation_p.D995H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1039H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1048H|PARD3_ENST00000545693.1_Missense_Mutation_p.D1069H|PARD3_ENST00000374790.3_Missense_Mutation_p.D1025H|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374788.3_Missense_Mutation_p.D1082H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1085					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGATGAAAATCTTGAATTTCA	0.423																																																	0													95	90	92					10																	34558760		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3253G>C	10.37:g.34558760C>G	ENSP00000363921:p.Asp1085His		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1085H	ENST00000374789.3	37	c.3253	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092103	0.76756	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;2.1;2.12;1.57;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999	T	0.51340	-0.8718	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	973;995;1002;1039;1069;1048;1082;1085	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1069;995;1085;1082;1048;973;1039;1025	ENSP00000443147:D1069H;ENSP00000440857:D995H;ENSP00000363921:D1085H;ENSP00000363920:D1082H;ENSP00000340591:D1048H;ENSP00000363926:D973H;ENSP00000311986:D1039H;ENSP00000363922:D1025H	ENSP00000340591:D1048H	D	-	1	0	PARD3	34598766	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.892000	0.69790	2.894000	0.99253	0.591000	0.81541	GAT	PARD3	-	NULL		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619		34558760	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34558760	C	G	34558760	3	3	54	1	0	0	0	0	1	0	0	0	11467	913	32	1	833	1	PARD3	10	34558760	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4242887	34558760	100975987	159	7186										
GDF2	2658	genome.wustl.edu	37	chr10	48414295	48414295	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgaatgtcctgggacaccagGaaggtcttggtctctgtagc	13	9	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:48414295G>A	ENST00000249598.1	-	2	732	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	191					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGGACACCAGGAAGGTCTTGG	0.542																																																	0													71	62	65					10																	48414295		2203	4300	6503	SO:0001819	synonymous_variant	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.573C>T	10.37:g.48414295G>A			Q5VSQ9|Q9Y571	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.F191	ENST00000249598.1	37	c.573	CCDS7219.1	10																																																																																			GDF2	-	pfam_TGF-b_N		0.542	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	G	NM_016204		48414295	-1	no_errors	ENST00000249598	ensembl	human	known	70_37	silent	SNP	0.964	A	A	48414295	G	A	48414295	2	1	54	1	0	0	0	0	0	0	0	1	6333	1165	41	1		1	GDF2	10	48414295	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	13855535	48414295	87120452	160	7187										
HERC4	26091	genome.wustl.edu	37	chr10	69682816	69682816	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggaaactgggagatactcctCaccacctcctgtggactgga	11	12	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:69682816C>A	ENST00000395198.3	-	26	3293	c.3046G>T	c.(3046-3048)Gag>Tag	p.E1016*	HERC4_ENST00000373700.4_Nonsense_Mutation_p.E1008*|HERC4_ENST00000412272.2_Nonsense_Mutation_p.E938*|HERC4_ENST00000277817.6_Nonsense_Mutation_p.E906*|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	1016	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGATACTCCTCACCACCTCCT	0.388																																																	0													151	159	156					10																	69682816		2203	4300	6503	SO:0001587	stop_gained	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.3046G>T	10.37:g.69682816C>A	ENSP00000378624:p.Glu1016*		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E1016*	ENST00000395198.3	37	c.3046	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.776932	0.98950	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	.	.	.	5.48	5.48	0.80851	.	0.046373	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7237	0.96153	0.0:1.0:0.0:0.0	.	.	.	.	X	906;938;1016;1008	.	ENSP00000277817:E906X	E	-	1	0	HERC4	69352822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.957000	0.70323	2.729000	0.93468	0.650000	0.86243	GAG	HERC4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.388	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	C	NM_015601		69682816	-1	no_errors	ENST00000395198	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	69682816	C	A	69682816	4	1	54	1	0	0	0	0	0	1	0	0	7080	835	29	3	131	3	HERC4	10	69682816	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	21268521	69682816	65851931	161	7188										
LRRC20	55222	genome.wustl.edu	37	chr10	72100450	72100450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaaggagaccagcttgcactCggccaggtctgcagccaaag	12	12	1	1	rs374147810		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:72100450C>T	ENST00000355790.4	-	3	568	c.91G>A	c.(91-93)Gag>Aag	p.E31K	LRRC20_ENST00000373224.1_Missense_Mutation_p.E31K|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000395011.1_Intron|LRRC20_ENST00000395010.1_Missense_Mutation_p.E31K	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	31										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						AGCTTGCACTCGGCCAGGTCT	0.547													C|||	1	0.000199681	0	0	5008	,	,		20990	0.001		0	False		,,,				2504	0																0								C	LYS/GLU,,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	158	129	139		91,,91	5.7	1	10		139	0,8600		0,0,4300	no	missense,intron,missense	LRRC20	NM_018205.2,NM_018239.2,NM_207119.1	56,,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	31/129,,31/185	72100450	1,13005	2203	4300	6503	SO:0001583	missense	55222			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.91G>A	10.37:g.72100450C>T	ENSP00000348043:p.Glu31Lys		Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E31K	ENST00000355790.4	37	c.91	CCDS7302.1	10	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439406	0.63067	2.27E-4	0.0	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395010;ENST00000357631;ENST00000446961	T;T;T;T;T	0.52295	0.67;0.67;0.68;0.68;0.67	5.74	5.74	0.90152	.	0.148678	0.64402	D	0.000011	T	0.34048	0.0884	L	0.48642	1.525	0.37874	D	0.930142	P;B	0.43909	0.821;0.34	B;B	0.29524	0.103;0.026	T	0.37957	-0.9683	10	0.09084	T	0.74	-19.7226	16.6472	0.85179	0.0:1.0:0.0:0.0	.	31;31	Q8TCA0-3;Q8TCA0	.;LRC20_HUMAN	K	31	ENSP00000362321:E31K;ENSP00000348043:E31K;ENSP00000378457:E31K;ENSP00000350255:E31K;ENSP00000413745:E31K	ENSP00000348043:E31K	E	-	1	0	LRRC20	71770456	0.998000	0.40836	0.995000	0.50966	0.997000	0.91878	3.707000	0.54838	2.715000	0.92844	0.655000	0.94253	GAG	LRRC20	-	NULL		0.547	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC20	HGNC	protein_coding	OTTHUMT00000048510.1	C	NM_018239		72100450	-1	no_errors	ENST00000355790	ensembl	human	known	70_37	missense	SNP	0.994	T	T	72100450	C	T	72100450	3	4	54	1	0	0	0	0	1	0	0	0	9000	893	31	1	475	1	LRRC20	10	72100450	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2417634	72100450	63434297	162	7189										
KIAA0913	23053	genome.wustl.edu	37	chr10	75558858	75558858	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttgaggttgctcaccagtgGttctggctgtatgagcaaac	12	8	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:75558858G>A	ENST00000605216.1	+	21	4477	c.4260G>A	c.(4258-4260)tgG>tgA	p.W1420*	ZSWIM8_ENST00000398706.2_Nonsense_Mutation_p.W1425*|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Nonsense_Mutation_p.W1387*|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Nonsense_Mutation_p.W1425*|ZSWIM8_ENST00000604524.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1420							zinc ion binding (GO:0008270)										CTCACCAGTGGTTCTGGCTGT	0.582																																																	0													79	86	84					10																	75558858		2015	4178	6193	SO:0001587	stop_gained	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4260G>A	10.37:g.75558858G>A	ENSP00000474748:p.Trp1420*		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Nonsense_Mutation	SNP	pfscan_Znf_SWIM	p.W1425*	ENST00000605216.1	37	c.4275		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	40|40|40	8.235886|8.235886|8.235886	0.98719|0.98719|0.98719	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000433366|ENST00000398706	.|.|.	.|.|.	.|.|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|.	.|.|0.000000	.|.|0.64402	.|.|U	.|.|0.000002	T|T|.	0.47764|0.47764|.	0.1463|0.1463|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.37572|0.37572|.	-0.9700|-0.9700|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-4.3627|-4.3627|-4.3627	19.5953|19.5953|19.5953	0.95535|0.95535|0.95535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|I|X	695|1136|1425	.|.|.	.|.|ENSP00000381693:W1425X	G|V|W	+|+|+	2|1|3	0|0|0	KIAA0913|KIAA0913|KIAA0913	75228864|75228864|75228864	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.366000|9.366000|9.366000	0.97143|0.97143|0.97143	2.643000|2.643000|2.643000	0.89663|0.89663|0.89663	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGT|GTT|TGG	ZSWIM8	-	NULL		0.582	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	G	NM_001242487		75558858	1	no_errors	ENST00000398706	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	75558858	G	A	75558858	4	1	54	1	0	0	0	0	0	1	0	0	8220	1270	44	4	4357	4	KIAA0913	10	75558858	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3458408	75558858	59975889	163	7190										
SAMD8	142891	genome.wustl.edu	37	chr10	76924411	76924411	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttctgttccagcgttcctaGaatcccatgggcctttgcca	8	13	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:76924411G>C	ENST00000542569.1	+	3	690	c.587G>C	c.(586-588)aGa>aCa	p.R196T	SAMD8_ENST00000372690.3_Missense_Mutation_p.R259T|SAMD8_ENST00000372687.4_Missense_Mutation_p.R196T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	196					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCGTTCCTAGAATCCCATGG	0.403																																																	0													216	193	201					10																	76924411		2203	4300	6503	SO:0001583	missense	142891			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.587G>C	10.37:g.76924411G>C	ENSP00000438042:p.Arg196Thr		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R259T	ENST00000542569.1	37	c.776	CCDS53543.1	10	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584422	0.86748	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	M	0.72894	2.215	0.58432	D	0.999997	D;P	0.60575	0.988;0.893	P;P	0.58721	0.844;0.601	D	0.94864	0.8024	10	0.39692	T	0.17	-15.1893	18.3006	0.90162	0.0:0.0:1.0:0.0	.	196;196	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	T	196;259;196;196	ENSP00000391799:R196T;ENSP00000361775:R259T;ENSP00000438042:R196T;ENSP00000361772:R196T	ENSP00000361772:R196T	R	+	2	0	SAMD8	76594417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.460000	0.97641	2.426000	0.82243	0.591000	0.81541	AGA	SAMD8	-	NULL		0.403	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	HGNC	protein_coding		G	NM_144660		76924411	1	no_errors	ENST00000372690	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76924411	G	C	76924411	3	2	54	1	0	0	0	0	1	0	0	0	13855	942	33	1	593	1	SAMD8	10	76924411	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1365553	76924411	58610336	164	7191										
PANK1	53354	genome.wustl.edu	37	chr10	91359024	91359024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttacctggtccctgtaactCttttatagttgtccttggag	8	9	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:91359024C>G	ENST00000307534.4	-	3	1450	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T	PANK1_ENST00000342512.3_Missense_Mutation_p.R207T|PANK1_ENST00000371774.2_Missense_Mutation_p.R234T|PANK1_ENST00000322191.6_Missense_Mutation_p.R207T	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	432					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CCCTGTAACTCTTTTATAGTT	0.408																																																	0													148	136	140					10																	91359024		2203	4300	6503	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1295G>C	10.37:g.91359024C>G	ENSP00000302108:p.Arg432Thr		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.R432T	ENST00000307534.4	37	c.1295	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	30	5.052879	0.93793	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.992;0.999;0.982;0.988	D	0.97070	0.9777	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	234;432;207;207	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	T	207;207;234;432;295	ENSP00000345118:R207T;ENSP00000318526:R207T;ENSP00000360839:R234T;ENSP00000302108:R432T	ENSP00000302108:R432T	R	-	2	0	PANK1	91349004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	AGA	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.408	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		C			91359024	-1	no_errors	ENST00000307534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91359024	C	G	91359024	3	3	54	1	0	0	0	0	1	0	0	0	11440	913	32	1	521	1	PANK1	10	91359024	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	14434613	91359024	44175723	165	7192										
FAM178A	55719	genome.wustl.edu	37	chr10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggcaattctggccaccattCtaccaggaatagtgaccaaa	8	11	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	419						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGCCACCATTCTACCAGGAAT	0.443																																																	0													122	125	124					10																	102684014		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1256C>G	10.37:g.102684014C>G	ENSP00000238961:p.Ser419Cys		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.S419C	ENST00000238961.4	37	c.1256	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528932	0.44969	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.53206	0.63;1.3;1.29	5.1	3.22	0.36961	.	0.306936	0.24481	N	0.038143	T	0.42607	0.1210	N	0.24115	0.695	0.33250	D	0.558348	D;D;D;D	0.61697	0.99;0.969;0.969;0.99	P;P;P;P	0.56474	0.799;0.639;0.639;0.799	T	0.54761	-0.8245	10	0.56958	D	0.05	-5.8774	5.8112	0.18467	0.193:0.7115:0.0:0.0955	.	68;419;419;419	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	419	ENSP00000359294:S419C;ENSP00000238961:S419C;ENSP00000359292:S419C	ENSP00000238961:S419C	S	+	2	0	FAM178A	102674004	0.982000	0.34865	1.000000	0.80357	0.985000	0.73830	0.836000	0.27545	1.504000	0.48704	0.650000	0.86243	TCT	FAM178A	-	NULL		0.443	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	C			102684014	1	no_errors	ENST00000370269	ensembl	human	known	70_37	missense	SNP	0.990	G	G	102684014	C	G	102684014	3	3	54	1	0	0	0	0	1	0	0	0	5518	913	32	1	1274	1	FAM178A	10	102684014	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	11324990	102684014	32850733	166	7193										
BTRC	8945	genome.wustl.edu	37	chr10	103190136	103190136	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtctctgtggctgggctgctCcagcctggcggacagcatgc	15	13	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:103190136C>G	ENST00000370187.3	+	2	201	c.83C>G	c.(82-84)tCc>tGc	p.S28C	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.S13C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGGCTGCTCCAGCCTGGCG	0.537																																																	0													83	78	80					10																	103190136		2203	4300	6503	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.83C>G	10.37:g.103190136C>G	ENSP00000359206:p.Ser28Cys		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S28C	ENST00000370187.3	37	c.83	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895274	0.72639	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.69040	-0.36;-0.37	5.72	5.72	0.89469	.	0.163737	0.44483	D	0.000444	T	0.68366	0.2993	N	0.08118	0	0.53005	D	0.999963	P;P	0.46578	0.838;0.88	B;D	0.64237	0.258;0.923	T	0.72924	-0.4144	10	0.51188	T	0.08	-9.6945	20.2406	0.98372	0.0:1.0:0.0:0.0	.	28;28	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	C	28;13;10	ENSP00000359206:S28C;ENSP00000377088:S13C	ENSP00000359202:S10C	S	+	2	0	BTRC	103180126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.631000	0.67812	2.857000	0.98124	0.650000	0.86243	TCC	BTRC	-	NULL		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	C	NM_033637		103190136	1	no_errors	ENST00000370187	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103190136	C	G	103190136	3	3	54	1	0	0	0	0	1	0	0	0	1572	855	30	1	89	1	BTRC	10	103190136	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	506122	103190136	32344611	167	7194										
TCF7L2	6934	genome.wustl.edu	37	chr10	114710681	114710681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcaatgaatcagaaacgaatCaaaacagctcctccgattcc	5	12	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:114710681C>G	ENST00000355995.4	+	1	673	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E	TCF7L2_ENST00000355717.4_Missense_Mutation_p.Q56E|TCF7L2_ENST00000369395.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000534894.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000542695.1_5'UTR|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000543371.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000536810.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000352065.5_Missense_Mutation_p.Q56E|TCF7L2_ENST00000349937.2_Missense_Mutation_p.Q56E|TCF7L2_ENST00000545257.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000369397.4_Missense_Mutation_p.Q56E|TCF7L2_ENST00000538897.1_Missense_Mutation_p.Q56E			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	56					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGAAACGAATCAAAACAGCTC	0.498			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													42	46	44					10																	114710681		2203	4300	6503	SO:0001583	missense	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.166C>G	10.37:g.114710681C>G	ENSP00000348274:p.Gln56Glu		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q56E	ENST00000355995.4	37	c.166		10	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063884	0.36373	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99167	-4.91;-4.9;-4.91;-4.93;-5.51;-5.51;-5.49;-4.91;-5.47	4.03	1.51	0.23008	.	0.184365	0.35555	U	0.003124	D	0.98566	0.9521	M	0.61703	1.905	0.80722	D	1	P;B;D;B;D;P;B;B;P;P;D;P;P	0.56521	0.828;0.222;0.969;0.045;0.969;0.706;0.123;0.39;0.946;0.562;0.976;0.73;0.656	P;B;P;B;P;P;B;B;D;P;P;B;B	0.67725	0.639;0.185;0.81;0.038;0.81;0.464;0.088;0.397;0.953;0.464;0.756;0.205;0.317	D	0.97171	0.9844	10	0.52906	T	0.07	-17.6081	6.7219	0.23334	0.1546:0.7225:0.0:0.1229	.	56;56;56;56;56;56;56;56;56;56;56;56;56	C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;.;.;.;.;.;.;.;.;.;.	E	56;56;56;56;56;56;56;56;56;56;56;3	ENSP00000348274:Q56E;ENSP00000440547:Q56E;ENSP00000444972:Q56E;ENSP00000446238:Q56E;ENSP00000347949:Q56E;ENSP00000446172:Q56E;ENSP00000443626:Q56E;ENSP00000358404:Q56E;ENSP00000344823:Q56E	ENSP00000345640:Q3E	Q	+	1	0	TCF7L2	114700671	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	3.958000	0.56737	-0.011000	0.14247	0.460000	0.39030	CAA	TCF7L2	-	pfam_CTNNB1-bd_N		0.498	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		C	NM_030756		114710681	1	no_errors	ENST00000355995	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114710681	C	G	114710681	3	3	54	1	0	0	0	0	1	0	0	0	15728	827	29	1	168	1	TCF7L2	10	114710681	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	11520545	114710681	20824066	168	7195										
VAX1	11023	genome.wustl.edu	37	chr10	118891763	118891763	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccccggagtccccacgccgaGactcatcatttgctggctct	9	17	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:118891763G>C	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Missense_Mutation_p.S173C	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCCACGCCGAGACTCATCATT	0.483																																																	0													54	67	62					10																	118891763		2203	4300	6503	SO:0001628	intergenic_variant	11023			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891763G>C			B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S173C	ENST00000369206.5	37	c.518	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645737	0.29246	.	.	ENSG00000148704	ENST00000277905	D	0.87029	-2.2	4.48	1.32	0.21799	.	.	.	.	.	T	0.77356	0.4118	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65389	-0.6180	8	0.66056	D	0.02	.	1.2031	0.01889	0.145:0.2257:0.3991:0.2302	.	173	Q5SQQ9-2	.	C	173	ENSP00000277905:S173C	ENSP00000277905:S173C	S	-	2	0	VAX1	118881753	0.023000	0.18921	0.000000	0.03702	0.288000	0.27193	0.309000	0.19332	0.153000	0.19213	0.655000	0.94253	TCT	VAX1	-	NULL		0.483	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	G	XM_301242		118891763	-1	no_errors	ENST00000277905	ensembl	human	known	70_37	missense	SNP	0.000	C	C	118891763	G	C	118891763	1	2	54	0	1	0	0	0	0	0	0	0	17165	942	33	1		1	VAX1	10	118891763	IGR	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4181082	118891763	16642984	169	7196										
ANO9	338440	genome.wustl.edu	37	chr11	430149	430149	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggtcgccgaggggacacatGaggatgtcgtgggcctcaca	16	10	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:430149G>A	ENST00000332826.6	-	9	789	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	235					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGGGACACATGAGGATGTCGT	0.682																																																	0													24	21	22					11																	430149		2130	4207	6337	SO:0001819	synonymous_variant	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.705C>T	11.37:g.430149G>A			B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.L235	ENST00000332826.6	37	c.705	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin		0.682	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	G	NM_001012302		430149	-1	no_errors	ENST00000332826	ensembl	human	known	70_37	silent	SNP	0.988	A	A	430149	G	A	430149	2	1	54	1	0	0	0	0	0	0	0	1	704	1277	45	1		1	ANO9	11	430149	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		430149	134576367	170	7197										
EPS8L2	64787	genome.wustl.edu	37	chr11	709426	709426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccatgagccagtccggggccGtgagctgctgcccgggtgcc	16	15	0	2	rs558489382		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:709426G>C	ENST00000533256.1	+	3	394	c.19G>C	c.(19-21)Gtg>Ctg	p.V7L	EPS8L2_ENST00000526198.1_Missense_Mutation_p.V7L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.V7L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.V7L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	7					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCGGGGCCGTGAGCTGCTG	0.682																																																	0													28	31	30					11																	709426		2175	4286	6461	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.19G>C	11.37:g.709426G>C	ENSP00000435585:p.Val7Leu		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.V7L	ENST00000533256.1	37	c.19	CCDS31328.1	11	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138888	0.01742	.	.	ENSG00000177106	ENST00000524763;ENST00000527199;ENST00000318562;ENST00000533256;ENST00000534755;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T	0.40225	1.04;2.12;2.12;1.04;2.12;2.12	2.78	-3.07	0.05363	.	0.690561	0.12147	N	0.495306	T	0.20088	0.0483	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15473	0.0;0.013;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.24012	-1.0172	10	0.15499	T	0.54	-9.2729	3.7937	0.08732	0.3475:0.3875:0.2651:0.0	.	7;35;7	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	L	7	ENSP00000435128:V7L;ENSP00000320828:V7L;ENSP00000435585:V7L;ENSP00000432765:V7L;ENSP00000436035:V7L;ENSP00000436230:V7L	ENSP00000320828:V7L	V	+	1	0	EPS8L2	699426	0.032000	0.19561	0.018000	0.16275	0.002000	0.02628	-0.054000	0.11826	-0.621000	0.05633	-1.234000	0.01563	GTG	EPS8L2	-	NULL		0.682	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	G	NM_022772		709426	1	no_errors	ENST00000318562	ensembl	human	known	70_37	missense	SNP	0.020	C	C	709426	G	C	709426	3	2	54	1	0	0	0	0	1	0	0	0	5208	1145	40	2	21	2	EPS8L2	11	709426	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	279277	709426	134297090	171	7198										
MUC5B	727897	genome.wustl.edu	37	chr11	1265813	1265813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catgtccacagccacaccctCctccactccagagactgtcc	5	20	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:1265813C>T	ENST00000529681.1	+	31	7761	c.7703C>T	c.(7702-7704)tCc>tTc	p.S2568F	MUC5B_ENST00000447027.1_Missense_Mutation_p.S2571F|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2568	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACACCCTCCTCCACTCCA	0.657																																																	0													72	92	86					11																	1265813		2036	4177	6213	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7703C>T	11.37:g.1265813C>T	ENSP00000436812:p.Ser2568Phe		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2571F	ENST00000529681.1	37	c.7712	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.278|7.278	0.608426|0.608426	0.14002|0.14002	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000537836|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.21191	.|2.02;2.21	2.87|2.87	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.26484|0.26484	0.0647|0.0647	M|M	0.67397|0.67397	2.05|2.05	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61080	.|0.968;0.989	.|P;P	.|0.47673	.|0.554;0.554	T|T	0.13202|0.13202	-1.0518|-1.0518	6|9	0.39692|0.87932	T|D	0.17|0	.|.	6.4504|6.4504	0.21900|0.21900	0.0:0.8414:0.0:0.1586|0.0:0.8414:0.0:0.1586	.|.	.|3206;2571	.|A7Y9J9;E9PBJ0	.|.;.	S|F	112|2568;2571;2540;2583	.|ENSP00000436812:S2568F;ENSP00000415793:S2571F	ENSP00000440615:P112S|ENSP00000343037:S2540F	P|S	+|+	1|2	0|0	MUC5B|MUC5B	1222389|1222389	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.025000|0.025000	0.11179|0.11179	-4.006000|-4.006000	0.00315|0.00315	0.482000|0.482000	0.27582|0.27582	0.195000|0.195000	0.17529|0.17529	CCT|TCC	MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1265813	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.058	T	T	1265813	C	T	1265813	3	4	54	1	0	0	0	0	1	0	0	0	10002	855	30	1	7834	1	MUC5B	11	1265813	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	556387	1265813	133740703	172	7199										
MUC5B	727897	genome.wustl.edu	37	chr11	1268629	1268629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtaccacccagcactcgactCcagccctgtccagccctcac	6	21	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:1268629C>G	ENST00000529681.1	+	31	10577	c.10519C>G	c.(10519-10521)Cca>Gca	p.P3507A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3510A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3507	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACTCGACTCCAGCCCTGTC	0.667																																																	0													63	84	77					11																	1268629		2050	4167	6217	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10519C>G	11.37:g.1268629C>G	ENSP00000436812:p.Pro3507Ala		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P3510A	ENST00000529681.1	37	c.10528	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.279	-0.365098	0.05103	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.55	1.37	-1.54	0.08584	.	.	.	.	.	T	0.15089	0.0364	L	0.50333	1.59	0.09310	N	1	B;B	0.31893	0.345;0.053	B;B	0.34489	0.184;0.006	T	0.29119	-1.0022	9	0.87932	D	0	.	5.5004	0.16825	0.1973:0.4102:0.3924:0.0	.	4035;3510	A7Y9J9;E9PBJ0	.;.	A	3507;3510;3479;3412	ENSP00000436812:P3507A;ENSP00000415793:P3510A	ENSP00000343037:P3479A	P	+	1	0	MUC5B	1225205	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.736000	0.00379	-0.346000	0.08312	0.297000	0.19635	CCA	MUC5B	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1268629	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	G	G	1268629	C	G	1268629	3	3	54	1	0	0	0	0	1	0	0	0	10002	855	30	1	10650	1	MUC5B	11	1268629	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2816	1268629	133737887	173	7200										
MUC5B	727897	genome.wustl.edu	37	chr11	1271163	1271163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtggccaccatgtccacaatCcacccctcctccactccgga	6	20	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:1271163C>G	ENST00000529681.1	+	31	13111	c.13053C>G	c.(13051-13053)atC>atG	p.I4351M	MUC5B_ENST00000447027.1_Missense_Mutation_p.I4354M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4351	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTCCACAATCCACCCCTCCT	0.647																																																	0													128	147	141					11																	1271163		2148	4231	6379	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13053C>G	11.37:g.1271163C>G	ENSP00000436812:p.Ile4351Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.I4354M	ENST00000529681.1	37	c.13062	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.764	-0.257238	0.05791	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16196	2.36;2.54	2.07	2.07	0.26955	.	.	.	.	.	T	0.11281	0.0275	N	0.22421	0.69	0.09310	N	1	B;B	0.18968	0.032;0.018	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	9	0.87932	D	0	.	7.6308	0.28238	0.0:1.0:0.0:0.0	.	4824;4354	A7Y9J9;E9PBJ0	.;.	M	4351;4354;4295;4201;130	ENSP00000436812:I4351M;ENSP00000415793:I4354M	ENSP00000343037:I4295M	I	+	3	3	MUC5B	1227739	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	-0.004000	0.12878	1.167000	0.42706	0.184000	0.17185	ATC	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1271163	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.001	G	G	1271163	C	G	1271163	3	3	54	1	0	0	0	0	1	0	0	0	10002	845	30	1	13184	1	MUC5B	11	1271163	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2534	1271163	133735353	174	7201										
NAV2	89797	genome.wustl.edu	37	chr11	20127225	20127225	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggattcccaaggtctggcatCacctcaaccgcttcctggag	10	14	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:20127225C>T	ENST00000396087.3	+	38	7069	c.6970C>T	c.(6970-6972)Cac>Tac	p.H2324Y	NAV2_ENST00000349880.4_Missense_Mutation_p.H2265Y|NAV2_ENST00000360655.4_Missense_Mutation_p.H2201Y|NAV2_ENST00000527559.2_Missense_Mutation_p.H2253Y|NAV2_ENST00000540292.1_Missense_Mutation_p.H2255Y|NAV2_ENST00000311043.8_Missense_Mutation_p.H1329Y|NAV2_ENST00000396085.1_Missense_Mutation_p.H2268Y|NAV2_ENST00000533917.1_Missense_Mutation_p.H1329Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2324					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGTCTGGCATCACCTCAACCG	0.587																																																	0													111	102	105					11																	20127225		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6970C>T	11.37:g.20127225C>T	ENSP00000379396:p.His2324Tyr		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.H2324Y	ENST00000396087.3	37	c.6970	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	c	28.5	4.929755	0.92389	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	T	0.70395	0.3219	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;D;D;D	0.91635	0.998;0.986;0.999;0.995	T	0.75054	-0.3453	9	.	.	.	.	18.4317	0.90628	0.0:1.0:0.0:0.0	.	2268;1329;2265;2201	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	Y	2201;2268;2265;2324;2253;2255;1329;1329	ENSP00000353871:H2201Y;ENSP00000379394:H2268Y;ENSP00000309577:H2265Y;ENSP00000379396:H2324Y;ENSP00000435395:H2253Y;ENSP00000443489:H2255Y;ENSP00000437316:H1329Y;ENSP00000312169:H1329Y	.	H	+	1	0	NAV2	20083801	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.810000	0.86072	2.462000	0.83206	0.655000	0.94253	CAC	NAV2	-	NULL		0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20127225	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20127225	C	T	20127225	3	4	54	1	0	0	0	0	1	0	0	0	10207	826	29	1	7049	1	NAV2	11	20127225	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	18856062	20127225	114879291	175	7202										
CCDC73	493860	genome.wustl.edu	37	chr11	32720835	32720835	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttccttcaatccttctatttCtttttcctttatttctgtag	2	10	4	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:32720835C>G	ENST00000335185.5	-	6	395	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000531481.1_Missense_Mutation_p.E118Q	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	118										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCTTCTATTTCTTTTTCCTTT	0.244																																																	0													126	112	116					11																	32720835		1773	4053	5826	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.352G>C	11.37:g.32720835C>G	ENSP00000335325:p.Glu118Gln		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.E118Q	ENST00000335185.5	37	c.352	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430888	0.83776	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	T	0.73110	0.3545	L	0.56769	1.78	0.35145	D	0.769214	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.77035	-0.2737	8	0.41790	T	0.15	.	17.3779	0.87397	0.0:1.0:0.0:0.0	.	118;118;118	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	Q	118	.	ENSP00000335325:E118Q	E	-	1	0	CCDC73	32677411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.579000	0.60936	2.713000	0.92767	0.655000	0.94253	GAA	CCDC73	-	NULL		0.244	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	C	NM_001008391		32720835	-1	no_errors	ENST00000335185	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32720835	C	G	32720835	3	3	54	1	0	0	0	0	1	0	0	0	2851	922	32	1	2939	1	CCDC73	11	32720835	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	12593610	32720835	102285681	176	7203										
DGKZ	8525	genome.wustl.edu	37	chr11	46397894	46397894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acaggagcccgatggtgctgGagccaagtccccgacatgcc	13	14	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:46397894G>C	ENST00000454345.1	+	24	2797	c.2672G>C	c.(2671-2673)gGa>gCa	p.G891A	DGKZ_ENST00000318201.8_Missense_Mutation_p.G680A|DGKZ_ENST00000532868.2_Missense_Mutation_p.G707A|DGKZ_ENST00000421244.2_Missense_Mutation_p.G703A|DGKZ_ENST00000395574.3_Missense_Mutation_p.G669A|DGKZ_ENST00000528615.1_Missense_Mutation_p.G481A|DGKZ_ENST00000543978.1_Intron|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000456247.2_Missense_Mutation_p.G702A|DGKZ_ENST00000527911.1_Missense_Mutation_p.G703A|DGKZ_ENST00000343674.6_Missense_Mutation_p.G719A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	891					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GATGGTGCTGGAGCCAAGTCC	0.602																																																	0													142	154	150					11																	46397894		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2672G>C	11.37:g.46397894G>C	ENSP00000412178:p.Gly891Ala		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G891A	ENST00000454345.1	37	c.2672	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	2.074	-0.412418	0.04799	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.22539	2.5;2.69;2.69;2.74;3.67;2.51;2.57;2.68;1.95	4.28	3.33	0.38152	.	0.516357	0.21370	N	0.075658	T	0.06962	0.0177	N	0.03608	-0.345	0.29939	N	0.82125	B;B;B;B;B;B;B;B;B	0.22909	0.009;0.0;0.016;0.004;0.008;0.003;0.014;0.0;0.077	B;B;B;B;B;B;B;B;B	0.19946	0.004;0.001;0.019;0.004;0.01;0.009;0.016;0.001;0.027	T	0.30327	-0.9982	10	0.08837	T	0.75	.	5.5411	0.17038	0.1324:0.0:0.6714:0.1962	.	680;668;646;703;891;702;703;669;719	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	A	719;481;669;668;703;702;703;680;891	ENSP00000343065:G719A;ENSP00000434719:G481A;ENSP00000378941:G669A;ENSP00000436273:G668A;ENSP00000436291:G703A;ENSP00000395684:G702A;ENSP00000391021:G703A;ENSP00000320340:G680A;ENSP00000412178:G891A	ENSP00000320340:G680A	G	+	2	0	DGKZ	46354470	0.985000	0.35326	1.000000	0.80357	0.797000	0.45037	0.962000	0.29280	1.115000	0.41800	0.407000	0.27541	GGA	DGKZ	-	NULL		0.602	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46397894	1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46397894	G	C	46397894	3	2	54	1	0	0	0	0	1	0	0	0	4484	1174	41	1	3209	1	DGKZ	11	46397894	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	13677059	46397894	88608622	177	7204										
C1QTNF4	114900	genome.wustl.edu	37	chr11	47611686	47611686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggagaagaagtaggcgccgGgcagacggcagcggaacacg	18	9	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:47611686G>A	ENST00000302514.3	-	2	1193	c.677C>T	c.(676-678)cCc>cTc	p.P226L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	226	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTAGGCGCCGGGCAGACGGCA	0.652																																																	0													10	14	13					11																	47611686		2152	4279	6431	SO:0001583	missense	114900			AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 4"	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.677C>T	11.37:g.47611686G>A	ENSP00000302274:p.Pro226Leu		Q8IV25	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.P226L	ENST00000302514.3	37	c.677	CCDS7942.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717040	0.89205	.	.	ENSG00000172247	ENST00000302514	D	0.87412	-2.25	4.32	4.32	0.51571	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.065956	0.64402	U	0.000008	D	0.94863	0.8340	M	0.92691	3.335	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	D	0.96366	0.9270	10	0.87932	D	0	.	17.1695	0.86826	0.0:0.0:1.0:0.0	.	226	Q9BXJ3	C1QT4_HUMAN	L	226	ENSP00000302274:P226L	ENSP00000302274:P226L	P	-	2	0	C1QTNF4	47568262	1.000000	0.71417	0.986000	0.45419	0.760000	0.43138	7.743000	0.85020	2.086000	0.62901	0.462000	0.41574	CCC	C1QTNF4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.652	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF4	HGNC	protein_coding	OTTHUMT00000391772.1	G	NM_031909		47611686	-1	no_errors	ENST00000302514	ensembl	human	known	70_37	missense	SNP	0.999	A	A	47611686	G	A	47611686	3	1	54	1	0	0	0	0	1	0	0	0	1970	1232	43	4	316	4	C1QTNF4	11	47611686	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1213792	47611686	87394830	178	7205										
TAF6L	10629	genome.wustl.edu	37	chr11	62554156	62554156	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cccagctttgggtccggcctCccgctgccgccagggggcgc	15	18	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:62554156C>T	ENST00000294168.3	+	11	1458	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000333449.4_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000533861.1_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	419					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGTCCGGCCTCCCGCTGCCGC	0.687											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	17	16					11																	62554156		2184	4273	6457	SO:0001819	synonymous_variant	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1257C>T	11.37:g.62554156C>T		1062	B2RAT0|Q96HA6	Silent	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.L419	ENST00000294168.3	37	c.1257	CCDS8035.1	11																																																																																			TAF6L	-	NULL		0.687	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	C	NM_006473		62554156	1	no_errors	ENST00000294168	ensembl	human	known	70_37	silent	SNP	0.095	T	T	62554156	C	T	62554156	2	4	54	1	0	0	0	0	0	0	0	1	15561	842	30	1		1	TAF6L	11	62554156	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	14942470	62554156	72452360	179	7206										
NRXN2	9379	genome.wustl.edu	37	chr11	64436066	64436066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggtcaggatcccgtccaccGagatggtcacctgtccagcc	11	15	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:64436066G>A	ENST00000377551.1	-	7	1419	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	NRXN2_ENST00000409571.1_Missense_Mutation_p.S396L|NRXN2_ENST00000265459.6_Missense_Mutation_p.S403L|NRXN2_ENST00000377559.3_Missense_Mutation_p.S372L			Q9P2S2	NRX2A_HUMAN	neurexin 2	403	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCGTCCACCGAGATGGTCAC	0.572																																																	0													112	101	105					11																	64436066		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1208C>T	11.37:g.64436066G>A	ENSP00000366774:p.Ser403Leu		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.S403L	ENST00000377551.1	37	c.1208	CCDS8077.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035516|3.035516	0.54896|0.54896	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000417749|ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	.|T;T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.19;-1.19;-1.19	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|0.000000	.|0.39544	.|U	.|0.001333	T|T	0.72078|0.72078	0.3416|0.3416	L|L	0.53617|0.53617	1.68|1.68	0.42010|0.42010	D|D	0.990931|0.990931	.|P;P;P	.|0.44139	.|0.699;0.827;0.716	.|B;B;B	.|0.36335	.|0.053;0.222;0.098	T|T	0.77816|0.77816	-0.2447|-0.2447	5|10	.|0.59425	.|D	.|0.04	.|.	15.6315|15.6315	0.76912|0.76912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;403;149	.|Q9P2S2-2;Q9P2S2;E7EV67	.|.;NRX2A_HUMAN;.	W|L	149|403;372;403;372;396;159	.|ENSP00000366774:S403L;ENSP00000366782:S372L;ENSP00000265459:S403L;ENSP00000386416:S396L;ENSP00000388971:S159L	.|ENSP00000265459:S403L	R|S	-|-	1|2	2|0	NRXN2|NRXN2	64192642|64192642	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.945000|0.945000	0.59286|0.59286	5.223000|5.223000	0.65283|0.65283	2.531000|2.531000	0.85337|0.85337	0.650000|0.650000	0.86243|0.86243	CGG|TCG	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	G	NM_015080		64436066	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	missense	SNP	0.990	A	A	64436066	G	A	64436066	3	1	54	1	0	0	0	0	1	0	0	0	10690	1059	37	1	4263	1	NRXN2	11	64436066	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1881910	64436066	70570450	180	7207										
PYGM	5837	genome.wustl.edu	37	chr11	64519472	64519472	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atccgcttcacctggatgtcGaagagtgagttggggttgat	14	7	1	3	rs116812032		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:64519472G>A	ENST00000164139.3	-	14	2090	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	PYGM_ENST00000377432.3_Silent_p.F476F|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	564					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGGATGTCGAAGAGTGAGT	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		23340	0		0	False		,,,				2504	0																0								G	,	0,4402		0,0,2201	220	186	197		1428,1692	2.2	1	11	dbSNP_132	197	6,8588	5.0+/-18.6	0,6,4291	no	coding-synonymous,coding-synonymous	PYGM	NM_001164716.1,NM_005609.2	,	0,6,6492	AA,AG,GG		0.0698,0.0,0.0462	,	476/755,564/843	64519472	6,12990	2201	4297	6498	SO:0001819	synonymous_variant	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1692C>T	11.37:g.64519472G>A			A0AVK1|A6NDY6	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.F564	ENST00000164139.3	37	c.1692	CCDS8079.1	11																																																																																			PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.522	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	G	NM_005609		64519472	-1	no_errors	ENST00000164139	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64519472	G	A	64519472	2	1	54	1	0	0	0	0	0	0	0	1	12892	1049	37	1		1	PYGM	11	64519472	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	83406	64519472	70487044	181	7208										
TIGD3	220359	genome.wustl.edu	37	chr11	65124381	65124381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttcaagaagggctggctcccGgcaaaacgcccccgtcctcg	11	16	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:65124381G>A	ENST00000309880.5	+	2	1309	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	368						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCTGGCTCCCGGCAAAACGCC	0.632																																																	0													49	55	53					11																	65124381		2201	4296	6497	SO:0001583	missense	220359				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1102G>A	11.37:g.65124381G>A	ENSP00000308354:p.Gly368Ser			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G368S	ENST00000309880.5	37	c.1102	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040371	0.08148	.	.	ENSG00000173825	ENST00000309880	T	0.16743	2.32	3.7	-0.893	0.10567	.	.	.	.	.	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.06405	0.002	T	0.40156	-0.9578	9	0.07990	T	0.79	-2.3762	1.7385	0.02947	0.1122:0.1706:0.3102:0.4071	.	368	Q6B0B8	TIGD3_HUMAN	S	368	ENSP00000308354:G368S	ENSP00000308354:G368S	G	+	1	0	TIGD3	64880957	0.000000	0.05858	0.066000	0.19879	0.587000	0.36485	-0.467000	0.06664	-0.021000	0.14009	0.456000	0.33151	GGC	TIGD3	-	NULL		0.632	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	G	NM_145719		65124381	1	no_errors	ENST00000309880	ensembl	human	known	70_37	missense	SNP	0.058	A	A	65124381	G	A	65124381	3	1	54	1	0	0	0	0	1	0	0	0	15927	1116	39	2	1104	2	TIGD3	11	65124381	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	604909	65124381	69882135	182	7209										
CD248	57124	genome.wustl.edu	37	chr11	66082697	66082697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagagatttgatgggcaggaGacacaggggacctggaggtg	18	6	0	3	rs151151894		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:66082697G>C	ENST00000311330.3	-	1	1818	c.1802C>G	c.(1801-1803)tCt>tGt	p.S601C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	601	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)			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						ATGGGCAGGAGACACAGGGGA	0.637																																																	0													102	118	113					11																	66082697		2200	4295	6495	SO:0001583	missense	57124			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.1802C>G	11.37:g.66082697G>C	ENSP00000308117:p.Ser601Cys		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_C-type_lectin	p.S601C	ENST00000311330.3	37	c.1802	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	5.130	0.209633	0.09757	.	.	ENSG00000174807	ENST00000311330	D	0.87412	-2.25	3.37	1.3	0.21679	.	1.848380	0.05101	U	0.487152	T	0.69655	0.3135	N	0.08118	0	0.09310	N	1	P	0.42785	0.79	B	0.31751	0.135	T	0.65981	-0.6036	10	0.46703	T	0.11	.	4.0001	0.09576	0.1329:0.0:0.637:0.23	.	601	Q9HCU0	CD248_HUMAN	C	601	ENSP00000308117:S601C	ENSP00000308117:S601C	S	-	2	0	CD248	65839273	0.005000	0.15991	0.002000	0.10522	0.348000	0.29142	-0.304000	0.08199	0.614000	0.30107	0.460000	0.39030	TCT	CD248	-	NULL		0.637	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	G	NM_020404		66082697	-1	no_errors	ENST00000311330	ensembl	human	known	70_37	missense	SNP	0.037	C	C	66082697	G	C	66082697	3	2	54	1	0	0	0	0	1	0	0	0	2994	942	33	1	475	1	CD248	11	66082697	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	958316	66082697	68923819	183	7210										
CCDC87	55231	genome.wustl.edu	37	chr11	66360384	66360384	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctcctgcggggggcgcttctGaggctctggggacgtcgtcc	17	13	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:66360384G>C	ENST00000333861.3	-	1	170	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'UTR	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	35					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGCGCTTCTGAGGCTCTGGG	0.687											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	20	19					11																	66360384		2071	4037	6108	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.103C>G	11.37:g.66360384G>C	ENSP00000328487:p.Gln35Glu	1091	Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.Q35E	ENST00000333861.3	37	c.103	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	G	0.160	-1.082535	0.01888	.	.	ENSG00000182791	ENST00000333861	T	0.27720	1.65	5.18	5.18	0.71444	.	0.814715	0.10514	N	0.665766	T	0.15955	0.0384	N	0.17082	0.46	0.80722	D	1	P	0.38535	0.635	B	0.29785	0.107	T	0.06232	-1.0838	10	0.02654	T	1	-4.502	14.0614	0.64802	0.0:0.0:1.0:0.0	.	35	Q9NVE4	CCD87_HUMAN	E	35	ENSP00000328487:Q35E	ENSP00000328487:Q35E	Q	-	1	0	CCDC87	66116960	0.065000	0.20965	0.028000	0.17463	0.098000	0.18820	2.231000	0.43009	2.698000	0.92095	0.655000	0.94253	CAG	CCDC87	-	NULL		0.687	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66360384	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.034	C	C	66360384	G	C	66360384	3	2	54	1	0	0	0	0	1	0	0	0	2867	1299	45	1	2450	1	CCDC87	11	66360384	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	277687	66360384	68646132	184	7211										
PRCP	5547	genome.wustl.edu	37	chr11	82535964	82535964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttctcagtgctgctttcccGcactgtcatagaaatctctg	7	12	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:82535964G>A	ENST00000313010.3	-	9	1669	c.1475C>T	c.(1474-1476)gCg>gTg	p.A492V	PRCP_ENST00000393399.2_Missense_Mutation_p.A513V|PRCP_ENST00000535099.1_Missense_Mutation_p.A387V|PRCP_ENST00000525772.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	492					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGCTTTCCCGCACTGTCATA	0.408																																																	0													61	60	60					11																	82535964		2203	4300	6503	SO:0001583	missense	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1475C>T	11.37:g.82535964G>A	ENSP00000317362:p.Ala492Val		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.A513V	ENST00000313010.3	37	c.1538	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843105	0.32606	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.22539	2.53;2.53;1.95	5.25	-10.5	0.00291	.	4.998470	0.00424	N	0.000062	T	0.06781	0.0173	N	0.02916	-0.46	0.09310	N	1	B;B	0.17268	0.021;0.003	B;B	0.11329	0.006;0.001	T	0.17018	-1.0383	9	.	.	.	12.6509	7.2876	0.26348	0.4413:0.0:0.0943:0.4644	.	492;513	P42785;A8MU24	PCP_HUMAN;.	V	492;513;387	ENSP00000317362:A492V;ENSP00000377055:A513V;ENSP00000442077:A387V	.	A	-	2	0	PRCP	82213612	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.555000	0.02170	-1.770000	0.01295	0.467000	0.42956	GCG	PRCP	-	NULL		0.408	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	G	NM_005040		82535964	-1	no_errors	ENST00000393399	ensembl	human	known	70_37	missense	SNP	0.000	A	A	82535964	G	A	82535964	3	1	54	1	0	0	0	0	1	0	0	0	12476	1087	38	2	19	2	PRCP	11	82535964	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	16175580	82535964	52470552	185	7212										
SIK3	23387	genome.wustl.edu	37	chr11	116728696	116728696	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aacctttggtcaatgtacttGaactcttactgtcttggaag	8	8	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:116728696G>C	ENST00000292055.4	-	20	3202	c.3167C>G	c.(3166-3168)tCa>tGa	p.S1056*	SIK3_ENST00000375288.1_Nonsense_Mutation_p.S391*|SIK3_ENST00000375300.1_Nonsense_Mutation_p.S1114*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Nonsense_Mutation_p.S996*|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Nonsense_Mutation_p.S1054*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.S895*	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1056					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1162*(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CAATGTACTTGAACTCTTACT	0.547																																																	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											93	93	93					11																	116728696		2201	4296	6497	SO:0001587	stop_gained	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3167C>G	11.37:g.116728696G>C	ENSP00000292055:p.Ser1056*		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.S1114*	ENST00000292055.4	37	c.3341	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.045545|7.045545	0.98025|0.98025	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|.	.|.	.|.	5.54|5.54	3.6|3.6	0.41247|0.41247	.|.	.|0.505775	.|0.14661	.|U	.|0.305982	T|.	0.49474|.	0.1559|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59936|.	-0.7360|.	3|.	.|0.72032	.|D	.|0.01	.|.	6.3893|6.3893	0.21577|0.21577	0.1655:0.1489:0.6856:0.0|0.1655:0.1489:0.6856:0.0	.|.	.|.	.|.	.|.	L|X	1155;1018|1114;1056;391;996;895	.|.	.|ENSP00000292055:S1056X	F|S	-|-	3|2	2|0	SIK3|SIK3	116233906|116233906	0.086000|0.086000	0.21541|0.21541	0.001000|0.001000	0.08648|0.08648	0.061000|0.061000	0.15899|0.15899	2.639000|2.639000	0.46570|0.46570	0.617000|0.617000	0.30160|0.30160	0.563000|0.563000	0.77884|0.77884	TTC|TCA	SIK3	-	NULL		0.547	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		G	NM_025164		116728696	-1	no_errors	ENST00000375300	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	116728696	G	C	116728696	4	2	54	1	0	0	0	0	0	1	0	0	14349	1294	45	1	640	1	SIK3	11	116728696	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	34192732	116728696	18277820	186	7213										
GYS2	2998	genome.wustl.edu	37	chr12	21695523	21695523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gatacccatcacagtgcattCagctgccaggggaaatagac	10	11	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:21695523C>G	ENST00000261195.2	-	13	1806	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	518					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAGTGCATTCAGCTGCCAGG	0.532																																					Colon(149;9 1820 3690 10544 50424)												0													74	60	65					12																	21695523		2203	4300	6503	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1552G>C	12.37:g.21695523C>G	ENSP00000261195:p.Glu518Gln		A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.E518Q	ENST00000261195.2	37	c.1552	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.123397	0.94429	.	.	ENSG00000111713	ENST00000261195	D	0.89485	-2.52	5.34	5.34	0.76211	.	0.111063	0.64402	D	0.000009	D	0.95868	0.8655	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96312	0.9229	10	0.87932	D	0	-12.976	19.221	0.93796	0.0:1.0:0.0:0.0	.	518	P54840	GYS2_HUMAN	Q	518	ENSP00000261195:E518Q	ENSP00000261195:E518Q	E	-	1	0	GYS2	21586790	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.638000	0.83328	2.776000	0.95493	0.650000	0.86243	GAA	GYS2	-	pfam_Glycogen_synth,pfam_Glyco_trans_1		0.532	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	C	NM_021957		21695523	-1	no_errors	ENST00000261195	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21695523	C	G	21695523	3	3	54	1	0	0	0	0	1	0	0	0	6933	835	29	1	575	1	GYS2	12	21695523	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		21695523	112156372	187	7214										
KRAS	3845	genome.wustl.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)											88	78	82					12																	25398281		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13D	ENST00000256078.4	37	c.38	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398281	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25398281	C	T	25398281	3	4	54	1	0	0	0	0	1	0	0	0	8458	739	26	4	668	4	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3702758	25398281	108453614	188	7215										
CAPRIN2	65981	genome.wustl.edu	37	chr12	30881633	30881633	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agcagctggtcatttggtatGaggcttgctgtagctactcc	12	9	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:30881633G>A	ENST00000395805.2	-	8	2278	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	CAPRIN2_ENST00000298892.5_Silent_p.L577L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000251071.5_Silent_p.L577L|CAPRIN2_ENST00000417045.1_Silent_p.L577L|CAPRIN2_ENST00000308433.5_Silent_p.L244L	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATTTGGTATGAGGCTTGCTG	0.428																																																	0													143	132	136					12																	30881633		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1731C>T	12.37:g.30881633G>A				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L577	ENST00000395805.2	37	c.1731	CCDS55816.1	12																																																																																			CAPRIN2	-	NULL		0.428	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	G	NM_023925		30881633	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.685	A	A	30881633	G	A	30881633	2	1	54	1	0	0	0	0	0	0	0	1	2641	1277	45	1		1	CAPRIN2	12	30881633	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5483352	30881633	102970262	189	7216										
MLL2	8085	genome.wustl.edu	37	chr12	49430960	49430960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgctgcattgccaattgctgCggcttcatgcacatggaagg	12	10	1	0	rs368612015		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:49430960C>T	ENST00000301067.7	-	34	10178	c.10179G>A	c.(10177-10179)ccG>ccA	p.P3393P	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3393	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAATTGCTGCGGCTTCATGC	0.537																																																	0								C		0,4192		0,0,2096	50	50	50		10179	-6.5	0.9	12		50	2,8472		0,2,4235	no	coding-synonymous	MLL2	NM_003482.3		0,2,6331	TT,TC,CC		0.0236,0.0,0.0158		3393/5538	49430960	2,12664	2096	4237	6333	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10179G>A	12.37:g.49430960C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3393	ENST00000301067.7	37	c.10179	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49430960	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.555	T	T	49430960	C	T	49430960	2	4	54	1	0	0	0	0	0	0	0	1	9644	755	27	2		2	MLL2	12	49430960	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	18549327	49430960	84420935	190	7217										
TUBA1B	10376	genome.wustl.edu	37	chr12	49522590	49522590	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tggggtgctgggtaaatggaGaactccagcttggacttctt	14	7	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:49522590G>A	ENST00000336023.5	-	4	601	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	169					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTAAATGGAGAACTCCAGCT	0.532																																																	0													45	62	56					12																	49522590		2203	4298	6501	SO:0001819	synonymous_variant	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.507C>T	12.37:g.49522590G>A			P04687|P05209|Q27I68|Q8WU19	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.F169	ENST00000336023.5	37	c.507	CCDS31792.1	12																																																																																			TUBA1B	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin		0.532	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	G	NM_006082		49522590	-1	no_errors	ENST00000336023	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49522590	G	A	49522590	2	1	54	1	0	0	0	0	0	0	0	1	16775	933	33	1		1	TUBA1B	12	49522590	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	91630	49522590	84329305	191	7218										
KRT83	3889	genome.wustl.edu	37	chr12	52713041	52713041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcctcccgccgcagagtctcGatgtagccagcaaacagggg	13	14	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:52713041G>C	ENST00000293670.3	-	2	554	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	164	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGAGTCTCGATGTAGCCAG	0.602																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0													93	104	100					12																	52713041		2203	4300	6503	SO:0001583	missense	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.492C>G	12.37:g.52713041G>C	ENSP00000293670:p.Ile164Met		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I164M	ENST00000293670.3	37	c.492	CCDS8823.1	12	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589071	0.66105	.	.	ENSG00000170523	ENST00000293670	D	0.91237	-2.81	4.81	-0.426	0.12314	Filament (1);	0.000000	0.39834	U	0.001244	D	0.92185	0.7522	M	0.77616	2.38	0.32631	N	0.522038	P	0.50528	0.936	P	0.59115	0.852	D	0.90473	0.4454	10	0.87932	D	0	.	6.3496	0.21369	0.3397:0.0:0.5451:0.1151	.	164	P78385	KRT83_HUMAN	M	164	ENSP00000293670:I164M	ENSP00000293670:I164M	I	-	3	3	KRT83	50999308	0.029000	0.19370	0.997000	0.53966	0.964000	0.63967	0.137000	0.15995	-0.050000	0.13356	-0.244000	0.11960	ATC	KRT83	-	pfam_F		0.602	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	G	NM_002282		52713041	-1	no_errors	ENST00000293670	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52713041	G	C	52713041	3	2	54	1	0	0	0	0	1	0	0	0	8517	1048	37	1	1021	1	KRT83	12	52713041	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3190451	52713041	81138854	192	7219										
LRP1	4035	genome.wustl.edu	37	chr12	57592445	57592445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagcctggatggctccaatcGccacgttggtcagtgtgcca	12	13	1	0	rs369789736		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:57592445G>A	ENST00000243077.3	+	60	10134	c.9668G>A	c.(9667-9669)cGc>cAc	p.R3223H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3223					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCTCCAATCGCCACGTTGGT	0.592																																																	0								G	HIS/ARG	0,4406		0,0,2203	45	33	37		9668	4.4	1	12		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3223/4545	57592445	1,13005	2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9668G>A	12.37:g.57592445G>A	ENSP00000243077:p.Arg3223His		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R3223H	ENST00000243077.3	37	c.9668	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938323	0.73557	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.97553	-4.43	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.98131	0.9383	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98408	1.0571	10	0.52906	T	0.07	.	16.2482	0.82460	0.0:0.0:1.0:0.0	.	3223	Q07954	LRP1_HUMAN	H	3223	ENSP00000243077:R3223H	ENSP00000243077:R3223H	R	+	2	0	LRP1	55878712	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	9.357000	0.97099	2.434000	0.82447	0.561000	0.74099	CGC	LRP1	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57592445	1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57592445	G	A	57592445	3	1	54	1	0	0	0	0	1	0	0	0	8974	1087	38	2	9906	2	LRP1	12	57592445	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4879404	57592445	76259450	193	7220										
LGR5	8549	genome.wustl.edu	37	chr12	71972663	71972663	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acttaaaattaacaggaaatCatgccttacagagcttgata	6	7	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:71972663C>G	ENST00000266674.5	+	15	1671	c.1360C>G	c.(1360-1362)Cat>Gat	p.H454D	LGR5_ENST00000540815.2_Missense_Mutation_p.H430D|LGR5_ENST00000536515.1_Missense_Mutation_p.H382D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	454					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACAGGAAATCATGCCTTACA	0.353																																																	0													137	131	133					12																	71972663		2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1360C>G	12.37:g.71972663C>G	ENSP00000266674:p.His454Asp		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.H454D	ENST00000266674.5	37	c.1360	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922981	0.33908	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.53	5.84	4.93	0.64822	.	0.309664	0.28453	N	0.015295	T	0.43919	0.1269	L	0.42245	1.32	0.29075	N	0.883076	B;B	0.17465	0.008;0.022	B;B	0.22386	0.039;0.028	T	0.39961	-0.9588	10	0.36615	T	0.2	.	9.6163	0.39694	0.1426:0.7873:0.0:0.0701	.	430;454	O75473-2;O75473	.;LGR5_HUMAN	D	454;454;382;430	ENSP00000266674:H454D;ENSP00000443033:H382D;ENSP00000441035:H430D	ENSP00000266674:H454D	H	+	1	0	LGR5	70258930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.005000	0.40864	1.435000	0.47434	0.650000	0.86243	CAT	LGR5	-	NULL		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71972663	1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	0.999	G	G	71972663	C	G	71972663	3	3	54	1	0	0	0	0	1	0	0	0	8777	826	29	1	1418	1	LGR5	12	71972663	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	14380218	71972663	61879232	194	7221										
STAB2	55576	genome.wustl.edu	37	chr12	104140424	104140424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tctgctcatgccacctgtaaGgagaacaacacgtgtgagtg	11	10	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:104140424G>A	ENST00000388887.2	+	58	6390	c.6186G>A	c.(6184-6186)aaG>aaA	p.K2062K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCACCTGTAAGGAGAACAACA	0.483																																																	0													363	294	318					12																	104140424		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6186G>A	12.37:g.104140424G>A				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K2062	ENST00000388887.2	37	c.6186	CCDS31888.1	12																																																																																			STAB2	-	smart_EGF_laminin,smart_EG-like_dom		0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	G			104140424	1	no_errors	ENST00000388887	ensembl	human	known	70_37	silent	SNP	0.981	A	A	104140424	G	A	104140424	2	1	54	1	0	0	0	0	0	0	0	1	15268	991	35	4		4	STAB2	12	104140424	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	32167761	104140424	29711471	195	7222										
MYO1H	283446	genome.wustl.edu	37	chr12	109872885	109872885	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccagaactctgtttgctaccGaagatgcctttgaatttagt	8	9	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109872885G>T	ENST00000431443.2	+	20	2089	c.2089G>T	c.(2089-2091)Gaa>Taa	p.E697*	MYO1H_ENST00000310903.5_Nonsense_Mutation_p.E687*	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	697	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E687K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GTTTGCTACCGAAGATGCCTT	0.348																																																	1	Substitution - Missense(1)	lung(1)											99	91	93					12																	109872885		1825	4081	5906	SO:0001587	stop_gained	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2089G>T	12.37:g.109872885G>T	ENSP00000444076:p.Glu697*		F5H3C6	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E697*	ENST00000431443.2	37	c.2089		12	.	.	.	.	.	.	.	.	.	.	G	38	7.007044	0.97998	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3452	0.74330	0.0:0.0:1.0:0.0	.	.	.	.	X	687;697	.	ENSP00000439182:E687X	E	+	1	0	MYO1H	108357268	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.111000	0.94308	2.285000	0.76669	0.655000	0.94253	GAA	MYO1H	-	smart_Myosin_head_motor_dom		0.348	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		G	NM_173597		109872885	1	no_errors	ENST00000431443	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	109872885	G	T	109872885	4	4	54	1	0	0	0	0	0	1	0	0	10098	1059	37	3	2137	3	MYO1H	12	109872885	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5732461	109872885	23979010	196	7223										
KCTD10	83892	genome.wustl.edu	37	chr12	109898564	109898564	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gccccgtctcgaaggtagttGagtatcgtaccaaagtgctt	11	10	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109898564G>A	ENST00000228495.6	-	3	545	c.264C>T	c.(262-264)ctC>ctT	p.L88L	KCTD10_ENST00000540411.1_Silent_p.L85L|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000424763.2_Intron	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GAAGGTAGTTGAGTATCGTAC	0.607																																																	0													88	78	81					12																	109898564		2203	4300	6503	SO:0001819	synonymous_variant	83892			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.264C>T	12.37:g.109898564G>A			Q53HN2|Q59FV1|Q6PL47|Q96SU0	Silent	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L88	ENST00000228495.6	37	c.264	CCDS9128.1	12	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319894	0.23994	.	.	ENSG00000110906	ENST00000538161	.	.	.	5.31	2.55	0.30701	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28106	-1.0054	4	.	.	.	-20.2867	1.6113	0.02694	0.2415:0.1507:0.4697:0.138	.	.	.	.	L	54	.	.	S	-	2	0	KCTD10	108382947	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	0.368000	0.20399	0.409000	0.25649	-0.145000	0.13849	TCA	KCTD10	-	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.607	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	G	NM_031954		109898564	-1	no_errors	ENST00000228495	ensembl	human	known	70_37	silent	SNP	0.998	A	A	109898564	G	A	109898564	2	1	54	1	0	0	0	0	0	0	0	1	8117	1277	45	1		1	KCTD10	12	109898564	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	25679	109898564	23953331	197	7224										
UBE3B	89910	genome.wustl.edu	37	chr12	109947443	109947443	+	Silent	SNP	C	C	T													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tatgaagaacagatttcattCaaactggaagagctggtcac							TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109947443C>T	ENST00000342494.3	+	16	2260	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	UBE3B_ENST00000535900.1_Intron|UBE3B_ENST00000434735.2_Silent_p.F555F|UBE3B_ENST00000280774.5_Silent_p.F555F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	555					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGATTTCATTCAAACTGGAAG	0.363																																																	0													147	138	141					12																	109947443		2203	4300	6503	SO:0001819	synonymous_variant	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1665C>T	12.37:g.109947443C>T			A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.F555	ENST00000342494.3	37	c.1665	CCDS9129.1	12																																																																																			UBE3B	-	NULL		0.363	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	C	NM_183415		109947443	1	no_errors	ENST00000342494	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109947443	C	T	109947443	2	4	54	1	0	0	0	0	0	0	0	1	16911	825	29	1		1	UBE3B	12	109947443	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	48879	109947443	23904452	198	7225	37	2								
UBE3B	89910	genome.wustl.edu	37	chr12	109947445	109947445	+	Missense_Mutation	SNP	A	A	T													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgaagaacagatttcattcaAactggaagagctggtcacta					rs536093921		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109947445A>T	ENST00000342494.3	+	16	2262	c.1667A>T	c.(1666-1668)aAa>aTa	p.K556I	UBE3B_ENST00000535900.1_Intron|UBE3B_ENST00000434735.2_Missense_Mutation_p.K556I|UBE3B_ENST00000280774.5_Missense_Mutation_p.K556I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	556					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ATTTCATTCAAACTGGAAGAG	0.368																																																	0													148	138	141					12																	109947445		2203	4300	6503	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1667A>T	12.37:g.109947445A>T	ENSP00000340596:p.Lys556Ile		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.K556I	ENST00000342494.3	37	c.1667	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951980	0.92660	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.48522	1.15;0.81;1.42;1.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.48642	1.525	0.80722	D	1	P	0.46457	0.878	P	0.45856	0.495	T	0.52823	-0.8524	10	0.72032	D	0.01	-20.9845	14.9879	0.71362	1.0:0.0:0.0:0.0	.	556	Q7Z3V4	UBE3B_HUMAN	I	556	ENSP00000391529:K556I;ENSP00000280774:K556I;ENSP00000443131:K556I;ENSP00000340596:K556I	ENSP00000280774:K556I	K	+	2	0	UBE3B	108431828	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.884000	0.92432	2.210000	0.71456	0.528000	0.53228	AAA	UBE3B	-	NULL		0.368	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	A	NM_183415		109947445	1	no_errors	ENST00000342494	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109947445	A	T	109947445	3	4	54	1	0	0	0	0	1	0	0	0	16911	14	1	5	1721	5	UBE3B	12	109947445	Missense_Mutation	SNP	A	TCGA-DG-A2KK-01A-11D-A17W-09	2	109947445	23904450	199	7226	37	2								
PIWIL1	9271	genome.wustl.edu	37	chr12	130842072	130842072	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cctacttaagagtcttacagCaaaaggtcacagcagacacc	7	12	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:130842072C>T	ENST00000245255.3	+	14	1911	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	547	RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGTCTTACAGCAAAAGGTCAC	0.418																																																	0													148	130	136					12																	130842072		2203	4300	6503	SO:0001587	stop_gained	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1639C>T	12.37:g.130842072C>T	ENSP00000245255:p.Gln547*		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q547*	ENST00000245255.3	37	c.1639	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	41	9.125013	0.99073	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.59	4.69	0.59074	.	0.104262	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3018	15.633	0.76926	0.0:0.8624:0.1376:0.0	.	.	.	.	X	547	.	ENSP00000245255:Q547X	Q	+	1	0	PIWIL1	129408025	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.630000	0.54273	1.336000	0.45506	0.655000	0.94253	CAA	PIWIL1	-	superfamily_RNaseH-like_dom		0.418	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	C			130842072	1	no_errors	ENST00000245255	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	130842072	C	T	130842072	4	4	54	1	0	0	0	0	0	1	0	0	11981	711	25	4	1689	4	PIWIL1	12	130842072	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	20894627	130842072	3009823	200	7227										
POLE	5426	genome.wustl.edu	37	chr12	133234542	133234542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgggctctgcttggaaaatgGcaagtgggatggccctgggt	17	7	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:133234542G>T	ENST00000320574.5	-	27	3333	c.3290C>A	c.(3289-3291)gCc>gAc	p.A1097D	POLE_ENST00000535270.1_Missense_Mutation_p.A1070D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1097					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TTGGAAAATGGCAAGTGGGAT	0.473								DNA polymerases (catalytic subunits)																																									0													113	99	104					12																	133234542		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3290C>A	12.37:g.133234542G>T	ENSP00000322570:p.Ala1097Asp		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.A1108D	ENST00000320574.5	37	c.3323	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.184434	0.94885	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.86	5.86	0.93980	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.80764	0.994;0.985	T	0.46679	-0.9174	10	0.87932	D	0	.	20.2359	0.98356	0.0:0.0:1.0:0.0	.	1070;1097	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1097;1108;1070;877;74;1032	ENSP00000322570:A1097D;ENSP00000406383:A1108D;ENSP00000445753:A1070D;ENSP00000442519:A877D	ENSP00000322570:A1097D	A	-	2	0	POLE	131744615	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.806000	0.99153	2.787000	0.95880	0.650000	0.86243	GCC	POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.473	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	G	NM_006231		133234542	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133234542	G	T	133234542	3	4	54	1	0	0	0	0	1	0	0	0	12220	1203	42	4	3662	4	POLE	12	133234542	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2392470	133234542	617353	201	7228										
SACS	26278	genome.wustl.edu	37	chr13	23905671	23905671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caattaaatatgaagtgtcaGaaatcaaattgtcagttgct	7	5	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:23905671G>C	ENST00000382292.3	-	9	12617	c.12344C>G	c.(12343-12345)tCt>tGt	p.S4115C	SACS_ENST00000382298.3_Missense_Mutation_p.S4115C|SACS_ENST00000402364.1_Missense_Mutation_p.S3365C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4115					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGTGTCAGAAATCAAATT	0.363																																																	0													92	91	91					13																	23905671		2203	4299	6502	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12344C>G	13.37:g.23905671G>C	ENSP00000371729:p.Ser4115Cys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S4115C	ENST00000382292.3	37	c.12344	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980030	0.74474	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.36672	1.1	0.58432	D	0.999998	D	0.76494	0.999	D	0.69654	0.965	D	0.92589	0.6081	10	0.66056	D	0.02	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	4115	Q9NZJ4	SACS_HUMAN	C	4115;3365;4115	ENSP00000371729:S4115C;ENSP00000385844:S3365C;ENSP00000371735:S4115C	ENSP00000371729:S4115C	S	-	2	0	SACS	22803671	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	9.785000	0.99042	2.458000	0.83093	0.650000	0.86243	TCT	SACS	-	NULL		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23905671	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23905671	G	C	23905671	3	2	54	1	0	0	0	0	1	0	0	0	13834	942	33	1	1399	1	SACS	13	23905671	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		23905671	91264207	202	7229										
STARD13	90627	genome.wustl.edu	37	chr13	33703335	33703335	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	actacctcttggagcccattGacatgctgcagaatgtcatc	8	12	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:33703335G>C	ENST00000336934.5	-	5	1595	c.1479C>G	c.(1477-1479)gtC>gtG	p.V493V	STARD13_ENST00000255486.4_Silent_p.V485V|STARD13_ENST00000399365.3_Silent_p.V375V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	493					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGAGCCCATTGACATGCTGCA	0.483																																																	0													145	127	133					13																	33703335		2203	4300	6503	SO:0001819	synonymous_variant	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1479C>G	13.37:g.33703335G>C			A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.V493	ENST00000336934.5	37	c.1479	CCDS9348.1	13																																																																																			STARD13	-	NULL		0.483	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	G	NM_001243466		33703335	-1	no_errors	ENST00000336934	ensembl	human	known	70_37	silent	SNP	0.995	C	C	33703335	G	C	33703335	2	2	54	1	0	0	0	0	0	0	0	1	15286	1277	45	1		1	STARD13	13	33703335	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	9797664	33703335	81466543	203	7230										
PCDH9	5101	genome.wustl.edu	37	chr13	67800591	67800591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catccatgacgttgatagttActtttgcagtagaggaacga	10	7	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:67800591A>C	ENST00000377865.2	-	1	2116	c.1982T>G	c.(1981-1983)gTa>gGa	p.V661G	PCDH9_ENST00000328454.5_Missense_Mutation_p.V661G|PCDH9_ENST00000456367.1_Missense_Mutation_p.V661G|PCDH9_ENST00000544246.1_Missense_Mutation_p.V661G|PCDH9_ENST00000377861.3_Missense_Mutation_p.V661G			Q9HC56	PCDH9_HUMAN	protocadherin 9	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTGATAGTTACTTTTGCAGT	0.453																																																	0													110	95	100					13																	67800591		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1982T>G	13.37:g.67800591A>C	ENSP00000367096:p.Val661Gly		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V661G	ENST00000377865.2	37	c.1982	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430893	0.83776	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.4	5.4	0.78164	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.994;0.998	D	0.90058	0.4154	10	0.87932	D	0	.	15.5974	0.76595	1.0:0.0:0.0:0.0	.	661;661;661;661	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	661	ENSP00000442186:V661G;ENSP00000367096:V661G;ENSP00000401699:V661G;ENSP00000332060:V661G;ENSP00000367092:V661G	ENSP00000332060:V661G	V	-	2	0	PCDH9	66698592	1.000000	0.71417	0.940000	0.37924	0.934000	0.57294	9.139000	0.94554	2.271000	0.75665	0.533000	0.62120	GTA	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	A	NM_203487		67800591	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	missense	SNP	0.999	C	C	67800591	A	C	67800591	3	2	54	1	0	0	0	0	1	0	0	0	11542	391	14	5	1747	5	PCDH9	13	67800591	Missense_Mutation	SNP	A	TCGA-DG-A2KK-01A-11D-A17W-09	34097256	67800591	47369287	204	7231										
PIBF1	10464	genome.wustl.edu	37	chr13	73357704	73357704	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaacaacagttcctacggatGatatttcctcatcagaagag	7	9	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:73357704G>A	ENST00000326291.6	+	2	435	c.97G>A	c.(97-99)Gat>Aat	p.D33N	DIS3_ENST00000377780.4_5'Flank|DIS3_ENST00000475871.1_5'Flank|DIS3_ENST00000545453.1_5'Flank|DIS3_ENST00000377767.4_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	33						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TCCTACGGATGATATTTCCTC	0.343																																																	0													82	86	85					13																	73357704		2203	4300	6503	SO:0001583	missense	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.97G>A	13.37:g.73357704G>A	ENSP00000317144:p.Asp33Asn		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.D33N	ENST00000326291.6	37	c.97	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.444844	0.96187	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06528	3.29	5.55	5.55	0.83447	.	0.087752	0.85682	D	0.000000	T	0.19287	0.0463	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.63046	0.992;0.985	P;P	0.57101	0.813;0.747	T	0.00294	-1.1840	10	0.33141	T	0.24	-24.662	19.5053	0.95113	0.0:0.0:1.0:0.0	.	33;33	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	N	33	ENSP00000317144:D33N	ENSP00000317144:D33N	D	+	1	0	PIBF1	72255705	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.192000	0.94947	2.616000	0.88540	0.585000	0.79938	GAT	PIBF1	-	NULL		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	G	NM_006346		73357704	1	no_errors	ENST00000326291	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73357704	G	A	73357704	3	1	54	1	0	0	0	0	1	0	0	0	11903	1290	45	1	99	1	PIBF1	13	73357704	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5557113	73357704	41812174	205	7232										
DNAJC3	5611	genome.wustl.edu	37	chr13	96439260	96439260	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atttattttaccacccctcaGaaatgccaaaaagcaagaaa	4	10	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:96439260G>C	ENST00000602402.1	+	11	1325		c.e11-1		DNAJC3_ENST00000376795.6_Splice_Site	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CCACCCCTCAGAAATGCCAAA	0.338																																																	0													55	56	56					13																	96439260		2203	4300	6503	SO:0001630	splice_region_variant	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1209-1G>C	13.37:g.96439260G>C			Q86WT9|Q8N4N2	Splice_Site	SNP	-	e11-1	ENST00000602402.1	37	c.1209-1	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440162	0.83993	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC3	95237261	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	9.368000	0.97152	2.809000	0.96659	0.655000	0.94253	.	DNAJC3	-	-		0.338	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	G		Intron	96439260	1	no_errors	ENST00000376795	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	96439260	G	C	96439260	5	2	54	1	0	0	0	0	0	0	1	0	4657	956	33	1	1250	1	DNAJC3	13	96439260	Splice_Site	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	23081556	96439260	18730618	206	7233										
MYO16	23026	genome.wustl.edu	37	chr13	109793204	109793204	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccagtcctggagaccaacctCaagtaccccgtgcagccgga	10	16	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:109793204C>G	ENST00000357550.2	+	31	4619	c.4578C>G	c.(4576-4578)ctC>ctG	p.L1526L	MYO16_ENST00000356711.2_Silent_p.L1526L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGACCAACCTCAAGTACCCCG	0.711																																																	0													18	23	22					13																	109793204		2195	4289	6484	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4578C>G	13.37:g.109793204C>G				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1526	ENST00000357550.2	37	c.4578	CCDS32008.1	13																																																																																			MYO16	-	NULL		0.711	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109793204	1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.998	G	G	109793204	C	G	109793204	2	3	54	1	0	0	0	0	0	0	0	1	10087	813	29	1		1	MYO16	13	109793204	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	13353944	109793204	5376674	207	7234										
OR4K17	390436	genome.wustl.edu	37	chr14	20586347	20586347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaccattaagaaccactctcCtactgggcaatctaaagccc	5	14	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:20586347C>T	ENST00000315543.4	+	1	782	c.782C>T	c.(781-783)cCt>cTt	p.P261L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AACCACTCTCCTACTGGGCAA	0.448																																																	0													145	138	141					14																	20586347		2203	4300	6503	SO:0001583	missense	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.782C>T	14.37:g.20586347C>T	ENSP00000319197:p.Pro261Leu		Q6IF12	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P261L	ENST00000315543.4	37	c.782	CCDS32030.1	14	.	.	.	.	.	.	.	.	.	.	.	3.992	-0.004261	0.07773	.	.	ENSG00000176230	ENST00000315543	T	0.00039	8.85	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.250293	0.20600	U	0.089168	T	0.00073	0.0002	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14868	-1.0457	10	0.40728	T	0.16	.	5.5779	0.17233	0.2224:0.5602:0.2174:0.0	.	233	Q8NGC6	OR4KH_HUMAN	L	261	ENSP00000319197:P261L	ENSP00000319197:P261L	P	+	2	0	OR4K17	19656187	0.000000	0.05858	0.886000	0.34754	0.134000	0.20937	0.168000	0.16622	1.579000	0.49836	0.404000	0.27445	CCT	OR4K17	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K17	HGNC	protein_coding	OTTHUMT00000410346.1	C			20586347	1	no_errors	ENST00000315543	ensembl	human	known	70_37	missense	SNP	0.012	T	T	20586347	C	T	20586347	3	4	54	1	0	0	0	0	1	0	0	0	11095	681	24	4	784	4	OR4K17	14	20586347	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		20586347	86763193	208	7235										
C14orf93	60686	genome.wustl.edu	37	chr14	23467958	23467958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cacccacttcctcctggagaCgttttaacaactcattgttg	6	13	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:23467958C>T	ENST00000299088.6	-	2	704	c.275G>A	c.(274-276)cGt>cAt	p.R92H	C14orf93_ENST00000397379.3_Missense_Mutation_p.R92H|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Missense_Mutation_p.R92H|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R92H|C14orf93_ENST00000341470.4_Missense_Mutation_p.R92H	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	92						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCCTGGAGACGTTTTAACAA	0.562																																																	0													57	53	55					14																	23467958		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.275G>A	14.37:g.23467958C>T	ENSP00000299088:p.Arg92His		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	NULL	p.R92H	ENST00000299088.6	37	c.275	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420654	0.62622	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.7	2.71	0.32032	.	0.197682	0.34700	N	0.003755	T	0.29355	0.0731	N	0.24115	0.695	0.24556	N	0.993995	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20840	-1.0263	10	0.72032	D	0.01	-21.2077	5.3472	0.16016	0.0:0.606:0.1481:0.2459	.	92;92	Q9H972;Q9H972-2	CN093_HUMAN;.	H	92	ENSP00000299088:R92H;ENSP00000341353:R92H;ENSP00000380535:R92H;ENSP00000380538:R92H;ENSP00000384768:R92H;ENSP00000380536:R92H;ENSP00000450771:R92H;ENSP00000452036:R92H;ENSP00000451111:R92H	ENSP00000299088:R92H	R	-	2	0	C14orf93	22537798	0.879000	0.30193	0.946000	0.38457	0.996000	0.88848	1.179000	0.31993	0.750000	0.32877	0.561000	0.74099	CGT	C14orf93	-	NULL		0.562	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	C	NM_021944		23467958	-1	no_errors	ENST00000299088	ensembl	human	known	70_37	missense	SNP	0.880	T	T	23467958	C	T	23467958	3	4	54	1	0	0	0	0	1	0	0	0	1786	536	19	2	1365	2	C14orf93	14	23467958	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2881611	23467958	83881582	209	7236										
PRKD1	5587	genome.wustl.edu	37	chr14	30046497	30046497	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	catttctgtttcttcagtctCaggagtgtcactgtggctag	10	9	5	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:30046497C>T	ENST00000331968.5	-	18	2915	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	PRKD1_ENST00000415220.2_Missense_Mutation_p.E904K	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	896					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTTCAGTCTCAGGAGTGTCA	0.488																																																	0													136	114	122					14																	30046497		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2686G>A	14.37:g.30046497C>T	ENSP00000333568:p.Glu896Lys		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E896K	ENST00000331968.5	37	c.2686	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787382	0.31593	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65364	-0.15;-0.15	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.285598	0.33670	N	0.004665	T	0.52191	0.1719	L	0.43152	1.355	0.34061	D	0.657251	B	0.06786	0.001	B	0.08055	0.003	T	0.55088	-0.8195	10	0.12103	T	0.63	-21.2293	14.129	0.65240	0.0:0.9235:0.0:0.0765	.	896	Q15139	KPCD1_HUMAN	K	896;904	ENSP00000333568:E896K;ENSP00000390535:E904K	ENSP00000333568:E896K	E	-	1	0	PRKD1	29116248	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	2.943000	0.49026	2.861000	0.98227	0.655000	0.94253	GAG	PRKD1	-	superfamily_Kinase-like_dom		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	C	NM_002742		30046497	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	0.958	T	T	30046497	C	T	30046497	3	4	54	1	0	0	0	0	1	0	0	0	12545	835	29	1	56	1	PRKD1	14	30046497	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6578539	30046497	77303043	210	7237										
G2E3	55632	genome.wustl.edu	37	chr14	31061590	31061590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgttgcaccccgatgtaaacGaagttatcatttcccatgtg	8	10	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:31061590G>A	ENST00000206595.6	+	5	453	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	G2E3_ENST00000438909.2_Missense_Mutation_p.R54Q|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.R130Q	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	100					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CGATGTAAACGAAGTTATCAT	0.358																																																	0													126	120	122					14																	31061590		2203	4300	6503	SO:0001583	missense	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.299G>A	14.37:g.31061590G>A	ENSP00000206595:p.Arg100Gln		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.R100Q	ENST00000206595.6	37	c.299	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.249980	0.95305	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.93	5.93	0.95920	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.204872	0.46758	D	0.000269	T	0.81297	0.4793	L	0.48174	1.505	0.42714	D	0.993652	P;D	0.89917	0.892;1.0	B;D	0.81914	0.419;0.995	T	0.79371	-0.1831	10	0.45353	T	0.12	-8.4491	20.3495	0.98807	0.0:0.0:1.0:0.0	.	54;100	B4DIF9;Q7L622	.;G2E3_HUMAN	Q	100;100;54;130;100;100	ENSP00000206595:R100Q;ENSP00000448745:R100Q;ENSP00000391068:R54Q;ENSP00000451653:R130Q;ENSP00000451147:R100Q;ENSP00000446615:R100Q	ENSP00000206595:R100Q	R	+	2	0	G2E3	30131341	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.795000	0.69074	2.814000	0.96858	0.591000	0.81541	CGA	G2E3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.358	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	G	NM_017769		31061590	1	no_errors	ENST00000206595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31061590	G	A	31061590	3	1	54	1	0	0	0	0	1	0	0	0	6158	1058	37	1	313	1	G2E3	14	31061590	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1015093	31061590	76287950	211	7238										
FRMD6	122786	genome.wustl.edu	37	chr14	52194648	52194648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgcaacagttgcttggcccaGcagtgcatcaacatccaaga	9	12	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:52194648G>A	ENST00000344768.5	+	14	1966	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	FRMD6_ENST00000554167.1_Silent_p.Q513Q|FRMD6_ENST00000395718.2_Silent_p.Q582Q|FRMD6_ENST00000356218.4_Silent_p.Q582Q|FRMD6_ENST00000553556.1_Silent_p.Q232Q			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	590					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGGCCCAGCAGTGCATCA	0.458																																																	0													119	96	104					14																	52194648		2203	4300	6503	SO:0001819	synonymous_variant	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1770G>A	14.37:g.52194648G>A			D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.Q590	ENST00000344768.5	37	c.1770	CCDS58318.1	14																																																																																			FRMD6	-	NULL		0.458	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	G	NM_152330		52194648	1	no_errors	ENST00000344768	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52194648	G	A	52194648	2	1	54	1	0	0	0	0	0	0	0	1	6072	962	34	4		4	FRMD6	14	52194648	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	21133058	52194648	55154892	212	7239										
SGPP1	81537	genome.wustl.edu	37	chr14	64194288	64194288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aacaggcagtagagcggccaGttgctcacgcgggccagctg	15	12	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:64194288G>T	ENST00000247225.6	-	1	469	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	125					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGAGCGGCCAGTTGCTCACGC	0.697																																																	0													37	43	41					14																	64194288		2198	4300	6498	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.375C>A	14.37:g.64194288G>T	ENSP00000247225:p.Asn125Lys		B2RAH0|Q9H189	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.N125K	ENST00000247225.6	37	c.375	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318091	0.81469	.	.	ENSG00000126821	ENST00000247225	T	0.36878	1.23	4.58	3.68	0.42216	.	0.094731	0.64402	D	0.000001	T	0.41994	0.1183	L	0.60957	1.885	0.43467	D	0.995673	D	0.54397	0.966	P	0.48738	0.588	T	0.35301	-0.9794	10	0.51188	T	0.08	-16.8584	12.4927	0.55909	0.0826:0.0:0.9174:0.0	.	125	Q9BX95	SGPP1_HUMAN	K	125	ENSP00000247225:N125K	ENSP00000247225:N125K	N	-	3	2	SGPP1	63264041	1.000000	0.71417	0.898000	0.35279	0.822000	0.46500	5.443000	0.66581	0.905000	0.36596	0.455000	0.32223	AAC	SGPP1	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.697	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	HGNC	protein_coding	OTTHUMT00000072626.3	G	NM_030791		64194288	-1	no_errors	ENST00000247225	ensembl	human	known	70_37	missense	SNP	0.999	T	T	64194288	G	T	64194288	3	4	54	1	0	0	0	0	1	0	0	0	14249	1020	36	4	962	4	SGPP1	14	64194288	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	11999640	64194288	43155252	213	7240										
SYNE2	23224	genome.wustl.edu	37	chr14	64532300	64532300	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agaaatggctgagtttgctgGaagctgctaaagagtgggag	16	4	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:64532300G>C	ENST00000344113.4	+	51	10575	c.10363G>C	c.(10363-10365)Gaa>Caa	p.E3455Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E89Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3488Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3455Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3455					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGTTTGCTGGAAGCTGCTAA	0.443																																																	0													170	169	169					14																	64532300		1981	4173	6154	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10363G>C	14.37:g.64532300G>C	ENSP00000341781:p.Glu3455Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E3455Q	ENST00000344113.4	37	c.10363	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889237	0.52014	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.50277	1.29;0.75;1.29;4.09	5.52	4.62	0.57501	.	0.094596	0.45606	D	0.000344	T	0.38532	0.1044	L	0.34521	1.04	0.80722	D	1	P;P	0.40332	0.59;0.713	B;B	0.41571	0.197;0.36	T	0.16482	-1.0401	10	0.34782	T	0.22	.	10.9365	0.47249	0.0703:0.1315:0.7982:0.0	.	3455;3455	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	3455;3455;3488;3488;89	ENSP00000350719:E3455Q;ENSP00000341781:E3455Q;ENSP00000452570:E3488Q;ENSP00000450831:E89Q	ENSP00000261678:E3488Q	E	+	1	0	SYNE2	63602053	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.164000	0.50770	1.453000	0.47775	0.585000	0.79938	GAA	SYNE2	-	NULL		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64532300	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64532300	G	C	64532300	3	2	54	1	0	0	0	0	1	0	0	0	15476	1175	41	1	10561	1	SYNE2	14	64532300	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	338012	64532300	42817240	214	7241										
RBM25	58517	genome.wustl.edu	37	chr14	73563725	73563725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gggctattgaagttttaattCgtgaatactccagtgagcta	10	6	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:73563725C>T	ENST00000261973.7	+	7	931	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	RBM25_ENST00000540173.1_Missense_Mutation_p.R216C|RBM25_ENST00000527432.1_Missense_Mutation_p.R216C|RBM25_ENST00000526754.1_Missense_Mutation_p.R216C|RBM25_ENST00000525321.1_Missense_Mutation_p.R216C	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	216					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGTTTTAATTCGTGAATACTC	0.433																																																	0													116	114	115					14																	73563725		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.646C>T	14.37:g.73563725C>T	ENSP00000261973:p.Arg216Cys		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.R216C	ENST00000261973.7	37	c.646	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456412	0.63401	.	.	ENSG00000119707	ENST00000261973;ENST00000540173;ENST00000527432;ENST00000531500;ENST00000525321;ENST00000526754	T;T;T;T;T;T	0.33438	1.46;1.46;1.46;1.41;1.41;1.46	5.88	5.88	0.94601	.	0.052919	0.85682	D	0.000000	T	0.42108	0.1188	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	B;P	0.54924	0.446;0.764	T	0.14727	-1.0462	10	0.59425	D	0.04	.	14.9978	0.71446	0.1425:0.8575:0.0:0.0	.	216;216	P49756;P49756-2	RBM25_HUMAN;.	C	216	ENSP00000261973:R216C;ENSP00000437934:R216C;ENSP00000431150:R216C;ENSP00000434333:R216C;ENSP00000436868:R216C;ENSP00000436225:R216C	ENSP00000261973:R216C	R	+	1	0	RBM25	72633478	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.723000	0.61965	2.785000	0.95823	0.655000	0.94253	CGT	RBM25	-	NULL		0.433	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	C	XM_027330		73563725	1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73563725	C	T	73563725	3	4	54	1	0	0	0	0	1	0	0	0	13155	884	31	1	668	1	RBM25	14	73563725	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	9031425	73563725	33785815	215	7242										
ALKBH1	8846	genome.wustl.edu	37	chr14	78142096	78142096	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtaattcaggatccctgcttCagctcggaaatcctcaaatc	7	12	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:78142096C>T	ENST00000216489.3	-	5	658	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	215	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATCCCTGCTTCAGCTCGGAAA	0.498																																																	0													98	97	97					14																	78142096		2203	4300	6503	SO:0001583	missense	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.643G>A	14.37:g.78142096C>T	ENSP00000216489:p.Glu215Lys		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	tigrfam_Alkb	p.E215K	ENST00000216489.3	37	c.643	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827161	0.71143	.	.	ENSG00000100601	ENST00000216489	T	0.32515	1.45	6.17	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (1);	0.098896	0.64402	D	0.000003	T	0.56587	0.1995	M	0.92367	3.3	0.54753	D	0.999983	P	0.48230	0.907	P	0.53809	0.735	T	0.67154	-0.5742	10	0.72032	D	0.01	-12.5159	12.2323	0.54495	0.0:0.8061:0.1274:0.0665	.	215	Q13686	ALKB1_HUMAN	K	215	ENSP00000216489:E215K	ENSP00000216489:E215K	E	-	1	0	ALKBH1	77211849	1.000000	0.71417	0.092000	0.20876	0.505000	0.33919	4.703000	0.61824	1.626000	0.50381	0.655000	0.94253	GAA	ALKBH1	-	tigrfam_Alkb		0.498	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	C	NM_006020		78142096	-1	no_errors	ENST00000216489	ensembl	human	known	70_37	missense	SNP	0.967	T	T	78142096	C	T	78142096	3	4	54	1	0	0	0	0	1	0	0	0	526	835	29	1	534	1	ALKBH1	14	78142096	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4578371	78142096	29207444	216	7243										
DICER1	23405	genome.wustl.edu	37	chr14	95556868	95556868	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acctgaggttgattagctttGaggcttcggagggctcttct	13	8	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:95556868G>C	ENST00000526495.1	-	29	6027	c.5736C>G	c.(5734-5736)ctC>ctG	p.L1912L	DICER1_ENST00000527414.1_Silent_p.L1912L|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Silent_p.L1912L|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000393063.1_Silent_p.L1912L|DICER1_ENST00000556045.1_Silent_p.L810L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1912	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATTAGCTTTGAGGCTTCGGA	0.388			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													168	168	168					14																	95556868		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5736C>G	14.37:g.95556868G>C			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.L1912	ENST00000526495.1	37	c.5736	CCDS9931.1	14																																																																																			DICER1	-	smart_Ds-RNA-bd,pfscan_Ds-RNA-bd		0.388	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	G			95556868	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	silent	SNP	1.000	C	C	95556868	G	C	95556868	2	2	54	1	0	0	0	0	0	0	0	1	4531	1277	45	1		1	DICER1	14	95556868	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	17414772	95556868	11792672	217	7244										
ATG2B	55102	genome.wustl.edu	37	chr14	96756851	96756851	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccaaaggaagcagcgcctctCtgaaaccctctgacaatgcg	9	14	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:96756851C>G	ENST00000359933.4	-	40	6671	c.5778G>C	c.(5776-5778)caG>caC	p.Q1926H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1926					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGCGCCTCTCTGAAACCCTC	0.478																																																	0													116	98	104					14																	96756851		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5778G>C	14.37:g.96756851C>G	ENSP00000353010:p.Gln1926His		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q1926H	ENST00000359933.4	37	c.5778	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720804	0.68959	.	.	ENSG00000066739	ENST00000359933	T	0.15017	2.46	5.05	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.84082	2.675	0.54753	D	0.999984	D	0.71674	0.998	D	0.81914	0.995	T	0.41770	-0.9490	10	0.59425	D	0.04	.	11.1281	0.48330	0.0:0.7796:0.0:0.2204	.	1926	Q96BY7	ATG2B_HUMAN	H	1926	ENSP00000353010:Q1926H	ENSP00000261834:Q570H	Q	-	3	2	ATG2B	95826604	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	2.703000	0.47110	1.231000	0.43661	0.655000	0.94253	CAG	ATG2B	-	NULL		0.478	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96756851	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96756851	C	G	96756851	3	3	54	1	0	0	0	0	1	0	0	0	1095	912	32	1	470	1	ATG2B	14	96756851	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1199983	96756851	10592689	218	7245										
MAP1A	4130	genome.wustl.edu	37	chr15	43821418	43821418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atgtgtgcatggctgaccccGaggggctcagctcagagtct	14	11	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:43821418G>A	ENST00000300231.5	+	4	8197	c.7747G>A	c.(7747-7749)Gag>Aag	p.E2583K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E2583K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E2821K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2583					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E2583K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTGACCCCGAGGGGCTCAG	0.667																																																	1	Substitution - Missense(1)	lung(1)											29	33	32					15																	43821418		1864	4080	5944	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7747G>A	15.37:g.43821418G>A	ENSP00000300231:p.Glu2583Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E2583K	ENST00000300231.5	37	c.7747	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908701	0.52439	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02498	4.34;4.27;4.34	4.95	4.95	0.65309	.	.	.	.	.	T	0.12220	0.0297	L	0.57536	1.79	0.51012	D	0.999903	D	0.76494	0.999	D	0.63488	0.915	T	0.00394	-1.1767	9	0.72032	D	0.01	-19.0772	18.3795	0.90445	0.0:0.0:1.0:0.0	.	2583	P78559	MAP1A_HUMAN	K	2821;2583;2583	ENSP00000371462:E2821K;ENSP00000382380:E2583K;ENSP00000300231:E2583K	ENSP00000300231:E2583K	E	+	1	0	MAP1A	41608710	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	4.880000	0.63107	2.557000	0.86248	0.462000	0.41574	GAG	MAP1A	-	NULL		0.667	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43821418	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.998	A	A	43821418	G	A	43821418	3	1	54	1	0	0	0	0	1	0	0	0	9250	1059	37	1	7749	1	MAP1A	15	43821418	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		43821418	58709974	219	7246										
FBN1	2200	genome.wustl.edu	37	chr15	48796084	48796084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acagcaccaaacaaaggtttGatacactggcctctcttgta	7	11	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:48796084G>C	ENST00000316623.5	-	17	2468	c.2013C>G	c.(2011-2013)atC>atG	p.I671M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	671	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAAAGGTTTGATACACTGGC	0.478																																																	0													167	142	151					15																	48796084		2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2013C>G	15.37:g.48796084G>C	ENSP00000325527:p.Ile671Met		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.I671M	ENST00000316623.5	37	c.2013	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996293	0.35226	.	.	ENSG00000166147	ENST00000316623	D	0.92495	-3.05	6.06	1.9	0.25705	Matrix fibril-associated (3);TGF-beta binding (1);	0.118411	0.56097	D	0.000024	T	0.81640	0.4865	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.28991	0.097	T	0.70281	-0.4915	10	0.40728	T	0.16	.	6.8716	0.24123	0.0697:0.4239:0.3906:0.1158	.	671	P35555	FBN1_HUMAN	M	671	ENSP00000325527:I671M	ENSP00000325527:I671M	I	-	3	3	FBN1	46583376	0.782000	0.28689	1.000000	0.80357	0.961000	0.63080	-0.035000	0.12205	0.362000	0.24319	-0.122000	0.15005	ATC	FBN1	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN		0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	G			48796084	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	0.991	C	C	48796084	G	C	48796084	3	2	54	1	0	0	0	0	1	0	0	0	5720	1280	45	1	6802	1	FBN1	15	48796084	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4974666	48796084	53735308	220	7247										
ATP8B4	79895	genome.wustl.edu	37	chr15	50294401	50294401	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gaccatgtggctcactacttGataggagaagtaaatcagcc	10	9	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:50294401G>C	ENST00000284509.6	-	8	596	c.455C>G	c.(454-456)tCa>tGa	p.S152*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S152*|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	152						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCACTACTTGATAGGAGAAG	0.308																																																	0													55	54	55					15																	50294401		2196	4295	6491	SO:0001587	stop_gained	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.455C>G	15.37:g.50294401G>C	ENSP00000284509:p.Ser152*		Q9H727	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S152*	ENST00000284509.6	37	c.455	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.263171	0.97421	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.16	5.16	0.70880	.	0.072189	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1419	0.81533	0.0:0.0:1.0:0.0	.	.	.	.	X	152	.	ENSP00000284509:S152X	S	-	2	0	ATP8B4	48081693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.586000	0.53950	2.428000	0.82296	0.655000	0.94253	TCA	ATP8B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.308	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	G	NM_024837		50294401	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	50294401	G	C	50294401	4	2	54	1	0	0	0	0	0	1	0	0	1198	1294	45	1	3207	1	ATP8B4	15	50294401	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1498317	50294401	52236991	221	7248										
UACA	55075	genome.wustl.edu	37	chr15	70960493	70960493	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gttagtgttttcagatgtgaGagcgtgtattttctcctggt	12	5	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:70960493G>A	ENST00000322954.6	-	16	2715	c.2530C>T	c.(2530-2532)Ctc>Ttc	p.L844F	UACA_ENST00000539319.1_Missense_Mutation_p.L735F|UACA_ENST00000560441.1_Missense_Mutation_p.L829F|UACA_ENST00000379983.2_Missense_Mutation_p.L831F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	844					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCAGATGTGAGAGCGTGTATT	0.358																																																	0													133	128	130					15																	70960493		2198	4298	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2530C>T	15.37:g.70960493G>A	ENSP00000314556:p.Leu844Phe		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L844F	ENST00000322954.6	37	c.2530	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974965	0.34848	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.79247	-1.25;-1.25;-1.25	5.65	4.69	0.59074	.	0.107329	0.41712	D	0.000824	D	0.85687	0.5754	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.65815	0.995;0.991;0.995;0.995	D;P;P;D	0.67382	0.951;0.894;0.86;0.934	D	0.86633	0.1887	10	0.72032	D	0.01	-9.4665	16.5626	0.84570	0.0:0.0:0.8694:0.1306	.	735;844;844;831	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	F	844;831;735	ENSP00000314556:L844F;ENSP00000369319:L831F;ENSP00000438667:L735F	ENSP00000314556:L844F	L	-	1	0	UACA	68747547	1.000000	0.71417	0.344000	0.25628	0.012000	0.07955	3.439000	0.52878	2.824000	0.97209	0.655000	0.94253	CTC	UACA	-	superfamily_Prefoldin		0.358	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	G			70960493	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	0.971	A	A	70960493	G	A	70960493	3	1	54	1	0	0	0	0	1	0	0	0	16855	942	33	1	1736	1	UACA	15	70960493	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	20666092	70960493	31570899	222	7249										
LRRK1	79705	genome.wustl.edu	37	chr15	101597256	101597256	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gggacactaagccagagaagGtacttggggacacagagccc	14	10	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:101597256G>T	ENST00000388948.3	+	28	4886		c.e28+1		LRRK1_ENST00000284395.5_Splice_Site|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGAGAAGGTACTTGGGGA	0.642																																																	0													46	53	51					15																	101597256		2024	4174	6198	SO:0001630	splice_region_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4527+1G>T	15.37:g.101597256G>T				Splice_Site	SNP	-	e27+1	ENST00000388948.3	37	c.4527+1	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	g	16.08	3.022164	0.54576	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3987	0.90509	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK1	99414779	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.543000	0.98089	2.351000	0.79841	0.486000	0.48141	.	LRRK1	-	-		0.642	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	G	NM_024652	Intron	101597256	1	no_errors	ENST00000388948	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	101597256	G	T	101597256	5	4	54	1	0	0	0	0	0	0	1	0	9055	1275	44	4	4634	4	LRRK1	15	101597256	Splice_Site	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	30636763	101597256	934136	223	7250										
NPRL3	8131	genome.wustl.edu	37	chr16	167375	167375	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gaaggatctgttttggagatCtgtaaaagatgcataattct	10	4	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:167375C>T	ENST00000405960.3	-	5	604		c.e5-1		NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000399953.3_Splice_Site			Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)						aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TTTTGGAGATCTGTAAAAGAT	0.388																																																	0													55	52	53					16																	167375		1845	4081	5926	SO:0001630	splice_region_variant	8131				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000405960.3:c.2277-1G>A	16.37:g.167375C>T			D3DU40|Q1W6H0|Q4TT56|Q92469	Splice_Site	SNP	-	e4-1	ENST00000405960.3	37	c.319-1		16	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543259	0.65198	.	.	ENSG00000103148	ENST00000399953;ENST00000419636	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4759	0.90792	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPRL3	107375	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.689000	0.84165	2.673000	0.90976	0.655000	0.94253	.	NPRL3	-	-		0.388	NPRL3-015	KNOWN	basic	processed_transcript	NPRL3	HGNC	protein_coding	OTTHUMT00000467385.1	C	NM_001039476	Intron	167375	-1	no_errors	ENST00000399953	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	167375	C	T	167375	5	4	54	1	0	0	0	0	0	0	1	0	10622	927	32	1	1430	1	NPRL3	16	167375	Splice_Site	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		167375	90187378	224	7251										
CHTF18	63922	genome.wustl.edu	37	chr16	839552	839552	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ccggtctctctccagagtctCagaagctgctgccgacgtgg	12	14	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:839552C>T	ENST00000262315.9	+	4	506	c.443C>T	c.(442-444)tCa>tTa	p.S148L	CHTF18_ENST00000455171.2_Missense_Mutation_p.S176L|RPUSD1_ENST00000565809.1_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.S345L|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	148					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCCAGAGTCTCAGAAGCTGCT	0.632																																																	0													40	47	45					16																	839552		2049	4183	6232	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.443C>T	16.37:g.839552C>T	ENSP00000262315:p.Ser148Leu		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.S345L	ENST00000262315.9	37	c.1034	CCDS45371.1	16	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575068	0.28092	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.10192	2.9;2.91;2.93	4.69	-5.92	0.02261	.	3.283980	0.00633	N	0.000485	T	0.06645	0.0170	N	0.16307	0.4	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.0	B;B;B	0.15484	0.002;0.013;0.0	T	0.31081	-0.9956	10	0.25751	T	0.34	0.0537	8.1941	0.31385	0.0:0.5678:0.1141:0.3181	.	148;176;148	B4DEY3;Q8WVB6-2;Q8WVB6	.;.;CTF18_HUMAN	L	345;176;148	ENSP00000313029:S345L;ENSP00000406252:S176L;ENSP00000262315:S148L	ENSP00000262315:S148L	S	+	2	0	CHTF18	779553	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.288000	0.02783	-1.119000	0.02958	0.549000	0.68633	TCA	CHTF18	-	NULL		0.632	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	C	NM_022092		839552	1	no_errors	ENST00000317063	ensembl	human	known	70_37	missense	SNP	0.000	T	T	839552	C	T	839552	3	4	54	1	0	0	0	0	1	0	0	0	3419	838	29	1	457	1	CHTF18	16	839552	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	672177	839552	89515201	225	7252										
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1774567	1774567	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tccatgcacagaaattcattGagtttgaagatgctctggaa	9	7	2	4			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:1774567G>C	ENST00000250894.4	+	2	485	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E110Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	110					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAAATTCATTGAGTTTGAAGA	0.532																																																	0													62	65	64					16																	1774567		1965	4175	6140	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.328G>C	16.37:g.1774567G>C	ENSP00000250894:p.Glu110Gln		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.E110Q	ENST00000250894.4	37	c.328	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192660	0.58017	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.47869	3.1;0.83	5.13	5.13	0.70059	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.996	D;D;D;D	0.91635	0.986;0.999;0.998;0.991	T	0.71692	-0.4516	10	0.87932	D	0	-29.7794	17.3347	0.87277	0.0:0.0:1.0:0.0	.	110;110;110;110	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	Q	110	ENSP00000250894:E110Q;ENSP00000348290:E110Q	ENSP00000250894:E110Q	E	+	1	0	MAPK8IP3	1714568	1.000000	0.71417	0.990000	0.47175	0.447000	0.32167	9.651000	0.98493	2.384000	0.81235	0.563000	0.77884	GAG	MAPK8IP3	-	pfam_JNK/Rab-associated_protein-1_N		0.532	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	G	NM_001040439		1774567	1	no_errors	ENST00000250894	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1774567	G	C	1774567	3	2	54	1	0	0	0	0	1	0	0	0	9309	1291	45	1	334	1	MAPK8IP3	16	1774567	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	935015	1774567	88580186	226	7253										
ABCA3	21	genome.wustl.edu	37	chr16	2336854	2336854	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acgcctggttgttgaacaagGcgttgacgaccgtgcgctct	13	11	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:2336854G>C	ENST00000301732.5	-	22	3819	c.3119C>G	c.(3118-3120)gCc>gGc	p.A1040G	ABCA3_ENST00000382381.3_Missense_Mutation_p.A982G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1040					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTTGAACAAGGCGTTGACGAC	0.597																																																	0													105	99	101					16																	2336854		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3119C>G	16.37:g.2336854G>C	ENSP00000301732:p.Ala1040Gly		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1040G	ENST00000301732.5	37	c.3119	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167622	0.21621	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.87334	-2.24	4.76	3.8	0.43715	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	L	0.55834	1.745	0.80722	D	1	B;B	0.33044	0.118;0.395	B;B	0.41764	0.169;0.366	D	0.84020	0.0353	10	0.36615	T	0.2	.	12.1671	0.54135	0.0839:0.0:0.9161:0.0	.	1044;1040	Q4LE27;Q99758	.;ABCA3_HUMAN	G	1040;1044	ENSP00000301732:A1040G	ENSP00000301732:A1040G	A	-	2	0	ABCA3	2276855	1.000000	0.71417	0.129000	0.21949	0.003000	0.03518	7.130000	0.77235	1.368000	0.46115	0.643000	0.83706	GCC	ABCA3	-	NULL		0.597	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	G	NM_001089		2336854	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	missense	SNP	0.856	C	C	2336854	G	C	2336854	3	2	54	1	0	0	0	0	1	0	0	0	33	1203	42	4	2043	4	ABCA3	16	2336854	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	562287	2336854	88017899	227	7254										
CDH8	1006	genome.wustl.edu	37	chr16	61855002	61855002	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gaaccacatcttccggtactGagaagtgatacaggccttta	9	10	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:61855002G>A	ENST00000577390.1	-	6	1805	c.851C>T	c.(850-852)tCa>tTa	p.S284L	CDH8_ENST00000299345.6_Missense_Mutation_p.S284L|CDH8_ENST00000577730.1_Missense_Mutation_p.S284L|CDH8_ENST00000584337.1_Missense_Mutation_p.S284L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	284	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTCCGGTACTGAGAAGTGATA	0.408																																																	0													85	68	74					16																	61855002		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.851C>T	16.37:g.61855002G>A	ENSP00000462701:p.Ser284Leu		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S284L	ENST00000577390.1	37	c.851	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538796	0.65085	.	.	ENSG00000150394	ENST00000299345	T	0.03094	4.05	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.321368	0.32769	N	0.005679	T	0.12178	0.0296	M	0.82630	2.6	0.30459	N	0.774492	B;B	0.29909	0.261;0.027	B;B	0.40982	0.345;0.127	T	0.00731	-1.1590	10	0.62326	D	0.03	.	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	100;284	Q3LID3;P55286	.;CADH8_HUMAN	L	284	ENSP00000299345:S284L	ENSP00000299345:S284L	S	-	2	0	CDH8	60412503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.976000	0.56867	2.831000	0.97527	0.650000	0.86243	TCA	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	G	NM_001796		61855002	-1	no_errors	ENST00000577390	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61855002	G	A	61855002	3	1	54	1	0	0	0	0	1	0	0	0	3121	1294	45	1	1576	1	CDH8	16	61855002	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	59518148	61855002	28499751	228	7255										
CES3	23491	genome.wustl.edu	37	chr16	66997226	66997226	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	actgggccctgaccggttctCagccccacacccagcacagc	9	19	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:66997226C>G	ENST00000303334.4	+	2	298	c.227C>G	c.(226-228)tCa>tGa	p.S76*	CES3_ENST00000394037.1_Nonsense_Mutation_p.S76*|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	76						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GACCGGTTCTCAGCCCCACAC	0.657																																																	0													53	58	56					16																	66997226		2200	4300	6500	SO:0001587	stop_gained	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.227C>G	16.37:g.66997226C>G	ENSP00000304782:p.Ser76*		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.S76*	ENST00000303334.4	37	c.227	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116678	0.77323	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	.	.	.	4.31	4.31	0.51392	.	0.000000	0.32175	N	0.006462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1749	0.48593	0.1841:0.8159:0.0:0.0	.	.	.	.	X	76	.	ENSP00000304782:S76X	S	+	2	0	CES3	65554727	0.990000	0.36364	0.772000	0.31596	0.580000	0.36256	3.647000	0.54403	2.367000	0.80283	0.655000	0.94253	TCA	CES3	-	pfam_CarbesteraseB		0.657	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	C	NM_024922		66997226	1	no_errors	ENST00000303334	ensembl	human	known	70_37	nonsense	SNP	0.994	G	G	66997226	C	G	66997226	4	3	54	1	0	0	0	0	0	1	0	0	3276	838	29	1	233	1	CES3	16	66997226	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	5142224	66997226	23357527	229	7256										
VAC14	55697	genome.wustl.edu	37	chr16	70834762	70834762	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttgtcattgagggcgcgcacGatgttaggcgtgagcggcgc	17	9	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:70834762G>A	ENST00000261776.5	-	1	302	c.42C>T	c.(40-42)atC>atT	p.I14I	RP11-424M24.5_ENST00000574178.1_lincRNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	14					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGCGCGCACGATGTTAGGCG	0.662																																																	0													66	58	60					16																	70834762		2198	4300	6498	SO:0001819	synonymous_variant	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.42C>T	16.37:g.70834762G>A			B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.I14	ENST00000261776.5	37	c.42	CCDS10896.1	16																																																																																			VAC14	-	superfamily_ARM-type_fold		0.662	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	G	NM_018052		70834762	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70834762	G	A	70834762	2	1	54	1	0	0	0	0	0	0	0	1	17142	1048	37	1		1	VAC14	16	70834762	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3837536	70834762	19519991	230	7257										
ZNF821	55565	genome.wustl.edu	37	chr16	71898131	71898131	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcaagcaaggggtcagaattCaaattccctgtgacctgtga	10	9	3	3	rs267604625		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:71898131C>G	ENST00000565601.1	-	5	734	c.327G>C	c.(325-327)ttG>ttC	p.L109F	ZNF821_ENST00000313565.6_Missense_Mutation_p.L67F|ZNF821_ENST00000564134.1_Missense_Mutation_p.L108F|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000425432.1_Missense_Mutation_p.L109F|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.L67F	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GGTCAGAATTCAAATTCCCTG	0.493																																																	0													77	80	79					16																	71898131		2198	4300	6498	SO:0001583	missense	55565			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.327G>C	16.37:g.71898131C>G	ENSP00000455648:p.Leu109Phe		A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L109F	ENST00000565601.1	37	c.327	CCDS56006.1	16	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069887	0.36566	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01474	6.49;4.85;4.85	5.59	2.02	0.26589	.	0.257949	0.32459	N	0.006075	T	0.01254	0.0041	N	0.14661	0.345	0.36270	D	0.855099	P;B	0.44877	0.845;0.311	B;B	0.40329	0.326;0.24	T	0.65919	-0.6051	10	0.62326	D	0.03	-1.9351	5.309	0.15819	0.0:0.5677:0.1415:0.2908	.	109;67	B4DKK4;O75541-2	.;.	F	109;67;67	ENSP00000398089:L109F;ENSP00000313822:L67F;ENSP00000405908:L67F	ENSP00000313822:L67F	L	-	3	2	ZNF821	70455632	1.000000	0.71417	0.732000	0.30844	0.760000	0.43138	1.025000	0.30090	0.136000	0.18733	-0.145000	0.13849	TTG	ZNF821	-	NULL		0.493	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1	C	NM_017530		71898131	-1	no_errors	ENST00000425432	ensembl	human	known	70_37	missense	SNP	0.942	G	G	71898131	C	G	71898131	3	3	54	1	0	0	0	0	1	0	0	0	18208	825	29	1	923	1	ZNF821	16	71898131	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1063369	71898131	18456622	231	7258										
CRISPLD2	83716	genome.wustl.edu	37	chr16	84900605	84900605	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gctccaaccgagggtgatgaGacccaccaagcccaagaaaa	10	13	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:84900605G>T	ENST00000262424.5	+	7	1036	c.812G>T	c.(811-813)aGa>aTa	p.R271I	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R271I|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R270I	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	271					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGGGTGATGAGACCCACCAAG	0.562																																																	0													118	99	105					16																	84900605		2199	4300	6499	SO:0001583	missense	83716			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.812G>T	16.37:g.84900605G>T	ENSP00000262424:p.Arg271Ile		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R271I	ENST00000262424.5	37	c.812	CCDS10949.1	16	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048236	0.19827	.	.	ENSG00000103196	ENST00000262424	T	0.64438	-0.1	5.28	-0.726	0.11170	.	0.609131	0.17706	N	0.164746	T	0.44993	0.1320	L	0.36672	1.1	0.34815	D	0.738068	P;B;P	0.44946	0.641;0.015;0.846	B;B;B	0.39258	0.154;0.015;0.295	T	0.52177	-0.8610	10	0.41790	T	0.15	.	8.0931	0.30811	0.674:0.0:0.326:0.0	.	271;271;271	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	I	271	ENSP00000262424:R271I	ENSP00000262424:R271I	R	+	2	0	CRISPLD2	83458106	0.056000	0.20664	0.004000	0.12327	0.033000	0.12548	0.300000	0.19156	-0.000000	0.14550	0.561000	0.74099	AGA	CRISPLD2	-	NULL		0.562	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	HGNC	protein_coding	OTTHUMT00000269086.2	G	NM_031476		84900605	1	no_errors	ENST00000262424	ensembl	human	known	70_37	missense	SNP	0.417	T	T	84900605	G	T	84900605	3	4	54	1	0	0	0	0	1	0	0	0	3888	942	33	3	834	3	CRISPLD2	16	84900605	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	13002474	84900605	5454148	232	7259										
PRPF8	10594	genome.wustl.edu	37	chr17	1558693	1558693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagatccttgagctgcacctCgaccttgatccattcttcgt	7	14	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:1558693C>T	ENST00000572621.1	-	36	6203	c.5938G>A	c.(5938-5940)Gag>Aag	p.E1980K	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.E1980K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1980	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGCTGCACCTCGACCTTGATC	0.498																																																	0													207	154	172					17																	1558693		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5938G>A	17.37:g.1558693C>T	ENSP00000460348:p.Glu1980Lys		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.E1980K	ENST00000572621.1	37	c.5938	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	37	5.985815	0.97173	.	.	ENSG00000174231	ENST00000304992	D	0.84146	-1.81	5.91	5.91	0.95273	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95350	0.8446	10	0.87932	D	0	-1.1645	19.2845	0.94065	0.0:1.0:0.0:0.0	.	1980	Q6P2Q9	PRP8_HUMAN	K	1980	ENSP00000304350:E1980K	ENSP00000304350:E1980K	E	-	1	0	PRPF8	1505443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.813000	0.96785	0.655000	0.94253	GAG	PRPF8	-	pfam_PRP8_domainIV		0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	C			1558693	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1558693	C	T	1558693	3	4	54	1	0	0	0	0	1	0	0	0	12602	893	31	1	1097	1	PRPF8	17	1558693	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		1558693	79636517	233	7260										
SPNS2	124976	genome.wustl.edu	37	chr17	4436614	4436614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caggagccacgcgctggtgcCgcctgaagacccagcgggcc	15	16	0	2	rs368400793		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:4436614C>T	ENST00000329078.3	+	8	1375	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	389					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCGCTGGTGCCGCCTGAAGAC	0.642																																																	0									CYS/ARG	0,3134		0,0,1567	35	36	36		1165	4.8	1	17		36	3,7161		0,3,3579	no	missense	SPNS2	NM_001124758.1	180	0,3,5146	TT,TC,CC		0.0419,0.0,0.0291	probably-damaging	389/550	4436614	3,10295	1567	3582	5149	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1165C>T	17.37:g.4436614C>T	ENSP00000333292:p.Arg389Cys		B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R389C	ENST00000329078.3	37	c.1165	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	c	22.2	4.256438	0.80246	0.0	4.19E-4	ENSG00000183018	ENST00000329078	T	0.59906	0.23	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.72353	2.195	0.80722	D	1	P	0.46277	0.875	P	0.44422	0.449	T	0.69367	-0.5164	10	0.59425	D	0.04	.	16.3995	0.83635	0.0:1.0:0.0:0.0	.	389	Q8IVW8	SPNS2_HUMAN	C	389	ENSP00000333292:R389C	ENSP00000333292:R389C	R	+	1	0	SPNS2	4383363	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.152000	0.50677	2.198000	0.70561	0.486000	0.48141	CGC	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4436614	1	no_errors	ENST00000329078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4436614	C	T	4436614	3	4	54	1	0	0	0	0	1	0	0	0	15105	652	23	2	1195	2	SPNS2	17	4436614	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2877921	4436614	76758596	234	7261										
RPAIN	84268	genome.wustl.edu	37	chr17	5329587	5329587	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gaatcacaagcggtgtggtgGtgtgtcagtgtggcctgtcc	16	8	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:5329587G>C	ENST00000381209.3	+	5	1027	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000405578.4_Missense_Mutation_p.V153L|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000381208.5_Missense_Mutation_p.V153L	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	153					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CGGTGTGGTGGTGTGTCAGTG	0.478																																																	0													329	239	270					17																	5329587		2203	4300	6503	SO:0001583	missense	84268			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.457G>C	17.37:g.5329587G>C	ENSP00000370606:p.Val153Leu		B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	NULL	p.V153L	ENST00000381209.3	37	c.457	CCDS32536.1	17	.	.	.	.	.	.	.	.	.	.	G	7.755	0.704260	0.15172	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000405578	T;T;T	0.45276	0.94;0.92;0.9	5.32	-9.06	0.00727	.	1.982030	0.01899	N	0.039094	T	0.19644	0.0472	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.0;0.004	B;B;B;B	0.11329	0.002;0.004;0.001;0.006	T	0.15037	-1.0451	10	0.10902	T	0.67	-17.5417	8.3549	0.32324	0.3788:0.267:0.3542:0.0	.	153;153;153;153	E9PES3;E9PDG9;Q86UA6;B4DI36	.;.;RIP_HUMAN;.	L	153	ENSP00000370606:V153L;ENSP00000370605:V153L;ENSP00000385814:V153L	ENSP00000370605:V153L	V	+	1	0	RPAIN	5270311	0.000000	0.05858	0.001000	0.08648	0.926000	0.56050	-1.911000	0.01583	-1.293000	0.02362	-0.253000	0.11424	GTG	RPAIN	-	NULL		0.478	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAIN	HGNC	protein_coding	OTTHUMT00000439373.1	G	NM_001033002		5329587	1	no_errors	ENST00000405578	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5329587	G	C	5329587	3	2	54	1	0	0	0	0	1	0	0	0	13570	1261	44	4	475	4	RPAIN	17	5329587	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	892973	5329587	75865623	235	7262										
TP53	7157	genome.wustl.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cttgcggagattctcttcctCtgtgcgccggtctctcccag	10	15	3	1	rs112431538		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; 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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	GRCh37	CM995136	TP53	M	rs112431538						91	78	82					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.E285K	ENST00000269305.4	37	c.853	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577085	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.995	T	T	7577085	C	T	7577085	3	4	54	1	0	0	0	0	1	0	0	0	16412	922	32	1	433	1	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2247498	7577085	73618125	236	7263										
MYH3	4621	genome.wustl.edu	37	chr17	10534957	10534957	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggccttcttggccttctcctCagcgttccttgcatccctgc	8	17	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:10534957C>T	ENST00000583535.1	-	36	5344	c.5257G>A	c.(5257-5259)Gag>Aag	p.E1753K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1753K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1753					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCTTCTCCTCAGCGTTCCTT	0.552											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													169	118	135					17																	10534957		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5257G>A	17.37:g.10534957C>T	ENSP00000464317:p.Glu1753Lys	665	Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1753K	ENST00000583535.1	37	c.5257	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.540156	0.96474	.	.	ENSG00000109063	ENST00000226209	D	0.83075	-1.68	5.0	5.0	0.66597	Myosin tail (1);	.	.	.	.	D	0.93996	0.8077	H	0.97315	3.98	0.51767	D	0.999935	P	0.45634	0.863	P	0.58780	0.845	D	0.95616	0.8676	9	0.87932	D	0	.	18.8428	0.92190	0.0:1.0:0.0:0.0	.	1753	P11055	MYH3_HUMAN	K	1753	ENSP00000226209:E1753K	ENSP00000226209:E1753K	E	-	1	0	MYH3	10475682	1.000000	0.71417	0.746000	0.31095	0.793000	0.44817	5.926000	0.70070	2.746000	0.94184	0.561000	0.74099	GAG	MYH3	-	pfam_Myosin_tail		0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	C	NM_002470		10534957	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	0.999	T	T	10534957	C	T	10534957	3	4	54	1	0	0	0	0	1	0	0	0	10059	835	29	1	589	1	MYH3	17	10534957	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2957872	10534957	70660253	237	7264										
SREBF1	6720	genome.wustl.edu	37	chr17	17716720	17716720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctgcccgccgcctcagactgCggtcgaggagctggtgtgtc	15	14	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:17716720C>T	ENST00000261646.5	-	18	3360	c.3176G>A	c.(3175-3177)cGc>cAc	p.R1059H	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1089H|SREBF1_ENST00000395757.1_Missense_Mutation_p.R805H|SREBF1_ENST00000338854.5_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1059					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCTCAGACTGCGGTCGAGGAG	0.697																																																	0													15	19	18					17																	17716720		2188	4291	6479	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3176G>A	17.37:g.17716720C>T	ENSP00000261646:p.Arg1059His		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R1089H	ENST00000261646.5	37	c.3266	CCDS11189.1	17	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967458	0.34754	.	.	ENSG00000072310	ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T	0.13089	2.62;2.62;2.62	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.60067	1.865	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.782	D;D;B	0.91635	0.998;0.999;0.296	T	0.01966	-1.1238	10	0.20046	T	0.44	-20.4027	18.6002	0.91246	0.0:1.0:0.0:0.0	.	1059;1089;678	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	H	1089;1059;805;678;896;985	ENSP00000348069:R1089H;ENSP00000261646:R1059H;ENSP00000379106:R805H	ENSP00000261646:R1059H	R	-	2	0	SREBF1	17657445	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	2.088000	0.41663	2.483000	0.83821	0.561000	0.74099	CGC	SREBF1	-	NULL		0.697	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	C	NM_004176		17716720	-1	no_errors	ENST00000355815	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17716720	C	T	17716720	3	4	54	1	0	0	0	0	1	0	0	0	15171	768	27	2	275	2	SREBF1	17	17716720	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	7181763	17716720	63478490	238	7265										
ALDOC	230	genome.wustl.edu	37	chr17	26902544	26902544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agaaagggctgggtacgagtGaggcatggtgacagctccct	16	8	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:26902544G>C	ENST00000226253.4	-	2	482	c.7C>G	c.(7-9)Cac>Gac	p.H3D	ALDOC_ENST00000395319.3_Missense_Mutation_p.H3D|ALDOC_ENST00000395321.2_Missense_Mutation_p.H3D|RP11-192H23.5_ENST00000585189.1_RNA	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	3					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGGTACGAGTGAGGCATGGTG	0.577											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	55	58					17																	26902544		2203	4300	6503	SO:0001583	missense	230			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.7C>G	17.37:g.26902544G>C	ENSP00000226253:p.His3Asp	790	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.H3D	ENST00000226253.4	37	c.7	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	G	4.060	0.008846	0.07912	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	6.07	5.1	0.69264	.	0.096120	0.64402	D	0.000001	D	0.85561	0.5725	M	0.75447	2.3	0.49915	D	0.999838	B;B	0.17268	0.021;0.011	B;B	0.23716	0.032;0.048	T	0.82339	-0.0506	10	0.40728	T	0.16	.	15.8245	0.78686	0.0:0.0:0.8631:0.1369	.	3;3	A8MVZ9;P09972	.;ALDOC_HUMAN	D	3	ENSP00000378729:H3D;ENSP00000226253:H3D;ENSP00000378731:H3D;ENSP00000398976:H3D	ENSP00000226253:H3D	H	-	1	0	ALDOC	23926671	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.615000	0.67702	1.569000	0.49696	0.655000	0.94253	CAC	ALDOC	-	NULL		0.577	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	G			26902544	-1	no_errors	ENST00000226253	ensembl	human	known	70_37	missense	SNP	0.996	C	C	26902544	G	C	26902544	3	2	54	1	0	0	0	0	1	0	0	0	509	1290	45	1	1119	1	ALDOC	17	26902544	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	9185824	26902544	54292666	239	7266										
SSH2	85464	genome.wustl.edu	37	chr17	28022510	28022510	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcttctgggcggagtaaaatGaacattgcttggagatgctg	13	6	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:28022510G>A	ENST00000269033.3	-	4	394	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.F108F|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	81					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGTAAAATGAACATTGCTT	0.388																																																	0													184	152	163					17																	28022510		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.243C>T	17.37:g.28022510G>A			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.F81	ENST00000269033.3	37	c.243	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.388	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		28022510	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28022510	G	A	28022510	2	1	54	1	0	0	0	0	0	0	0	1	15215	1281	45	1		1	SSH2	17	28022510	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1119966	28022510	53172700	240	7267										
TADA2A	6871	genome.wustl.edu	37	chr17	35822181	35822181	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tattgtggcttttcattctaGaattataagagaccatggat	8	5	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:35822181G>C	ENST00000394395.2	+	10	841		c.e10-1		TADA2A_ENST00000225396.6_Splice_Site|TADA2A_ENST00000591992.1_Splice_Site|TADA2A_ENST00000417170.1_Splice_Site|TADA2A_ENST00000586023.1_Splice_Site	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTTCATTCTAGAATTATAAGA	0.269																																																	0													54	60	58					17																	35822181		2199	4296	6495	SO:0001630	splice_region_variant	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.669-1G>C	17.37:g.35822181G>C			A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Splice_Site	SNP	-	e9-1	ENST00000394395.2	37	c.669-1	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457858	0.84317	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8506	0.96738	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TADA2A	32896294	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.874000	0.92363	2.686000	0.91538	0.655000	0.94253	.	TADA2A	-	-		0.269	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	G	NM_001488	Intron	35822181	1	no_errors	ENST00000225396	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	35822181	G	C	35822181	5	2	54	1	0	0	0	0	0	0	1	0	15540	956	33	1	702	1	TADA2A	17	35822181	Splice_Site	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	7799671	35822181	45373029	241	7268										
GPR179	440435	genome.wustl.edu	37	chr17	36485791	36485791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttgggcagttcctgccaccCgacaggggtttcttttgatt	11	10	1	1	rs368195290		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:36485791C>T	ENST00000342292.4	-	11	3681	c.3661G>A	c.(3661-3663)Ggg>Agg	p.G1221R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1221					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCTGCCACCCGACAGGGGTT	0.567																																																	0								C	ARG/GLY	1,3823		0,1,1911	102	110	108		3661	3.2	0	17		108	0,8262		0,0,4131	no	missense	GPR179	NM_001004334.2	125	0,1,6042	TT,TC,CC		0.0,0.0262,0.0083	probably-damaging	1221/2368	36485791	1,12085	1912	4131	6043	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3661G>A	17.37:g.36485791C>T	ENSP00000345060:p.Gly1221Arg			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.G1221R	ENST00000342292.4	37	c.3661	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	5.162	0.215557	0.09810	2.62E-4	0.0	ENSG00000188888	ENST00000342292	T	0.50548	0.74	5.32	3.21	0.36854	.	0.130349	0.35708	N	0.003035	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.18968	0.032	B	0.09377	0.004	T	0.21449	-1.0245	10	0.59425	D	0.04	-14.7739	5.8183	0.18514	0.0:0.727:0.0:0.273	.	1221	Q6PRD1	GP179_HUMAN	R	1221	ENSP00000345060:G1221R	ENSP00000345060:G1221R	G	-	1	0	GPR179	33739317	0.000000	0.05858	0.018000	0.16275	0.007000	0.05969	0.354000	0.20146	1.477000	0.48234	0.407000	0.27541	GGG	GPR179	-	NULL		0.567	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36485791	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36485791	C	T	36485791	3	4	54	1	0	0	0	0	1	0	0	0	6693	652	23	2	3446	2	GPR179	17	36485791	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	663610	36485791	44709419	242	7269										
CNP	1267	genome.wustl.edu	37	chr17	40120646	40120646	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagaaggacttcctgccgctCtacttcggctggttcctgac	11	13	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:40120646C>T	ENST00000393892.3	+	2	708	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Silent_p.L168L|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	188					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TCCTGCCGCTCTACTTCGGCT	0.592																																																	0													26	29	28					17																	40120646		1969	4164	6133	SO:0001819	synonymous_variant	1267				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.564C>T	17.37:g.40120646C>T				Silent	SNP	pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	p.L188	ENST00000393892.3	37	c.564	CCDS11414.2	17																																																																																			CNP	-	pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase		0.592	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	HGNC	protein_coding	OTTHUMT00000257443.2	C			40120646	1	no_errors	ENST00000393892	ensembl	human	known	70_37	silent	SNP	0.984	T	T	40120646	C	T	40120646	2	4	54	1	0	0	0	0	0	0	0	1	3631	900	32	1		1	CNP	17	40120646	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	3634855	40120646	41074564	243	7270										
STAT3	6774	genome.wustl.edu	37	chr17	40467764	40467764	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agcttccgttctcagctcctCacatgggggaggtagcgcac	12	13	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:40467764C>G	ENST00000264657.5	-	24	2624	c.2312G>C	c.(2311-2313)tGa>tCa	p.*771S	STAT3_ENST00000389272.3_Nonstop_Mutation_p.*673S|STAT3_ENST00000588969.1_Nonstop_Mutation_p.*771S|STAT3_ENST00000585517.1_3'UTR|STAT3_ENST00000404395.3_Nonstop_Mutation_p.*770S	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	0					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCAGCTCCTCACATGGGGGA	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													106	94	98					17																	40467764		2203	4300	6503	SO:0001578	stop_lost	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2312G>C	17.37:g.40467764C>G			A8K7B8|K7ENL3|O14916|Q9BW54	Nonstop_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.*771S	ENST00000264657.5	37	c.2312	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327316	0.81690	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	S	771;673;770	.	.	X	-	2	2	STAT3	37721290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.791000	0.69045	2.826000	0.97356	0.655000	0.94253	TGA	STAT3	-	NULL		0.547	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	C	NM_139276, NM_003150		40467764	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	40467764	C	G	40467764	4	3	54	1	0	0	0	0	0	0	0	0	15296	837	29	1	4	1	STAT3	17	40467764	Nonstop_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	347118	40467764	40727446	244	7271										
AOC2	314	genome.wustl.edu	37	chr17	41001224	41001224	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtcctgggaaaggaggacctGacagctttttccttgggaag	14	8	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:41001224G>C	ENST00000253799.3	+	2	1737	c.1710G>C	c.(1708-1710)ctG>ctC	p.L570L	AOC2_ENST00000452774.2_Silent_p.L570L|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	570					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGGACCTGACAGCTTTTT	0.607																																																	0													48	51	50					17																	41001224		2203	4300	6503	SO:0001819	synonymous_variant	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1710G>C	17.37:g.41001224G>C			A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L570	ENST00000253799.3	37	c.1710	CCDS11443.1	17																																																																																			AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.607	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	G	NM_009590, NM_001158		41001224	1	no_errors	ENST00000253799	ensembl	human	known	70_37	silent	SNP	0.798	C	C	41001224	G	C	41001224	2	2	54	1	0	0	0	0	0	0	0	1	727	1277	45	1		1	AOC2	17	41001224	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	533460	41001224	40193986	245	7272										
C17orf57	124989	genome.wustl.edu	37	chr17	45490240	45490240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtttgaatgttaatttaactGaggaggacttcaatgaagcc	10	5	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:45490240G>A	ENST00000331493.2	+	22	2791	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Missense_Mutation_p.E698K	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	794	EF-hand 5.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TAATTTAACTGAGGAGGACTT	0.353																																																	0													129	127	127					17																	45490240		2203	4300	6503	SO:0001583	missense	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2380G>A	17.37:g.45490240G>A	ENSP00000332111:p.Glu794Lys		G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.E794K	ENST00000331493.2	37	c.2380	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286028	0.59867	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.24350	1.86;1.86	3.24	2.25	0.28309	EF-hand-like domain (1);	0.451068	0.18521	N	0.138774	T	0.42787	0.1218	M	0.71581	2.175	0.21652	N	0.999608	D;P	0.67145	0.996;0.713	D;B	0.75484	0.986;0.246	T	0.07501	-1.0769	10	0.59425	D	0.04	-6.2726	5.6112	0.17406	0.1524:0.0:0.8476:0.0	.	794;698	Q8IY85;G3V128	CQ057_HUMAN;.	K	794;698	ENSP00000332111:E794K;ENSP00000430048:E698K	ENSP00000332111:E794K	E	+	1	0	C17orf57	42845239	0.856000	0.29760	0.936000	0.37596	0.671000	0.39405	0.959000	0.29240	1.815000	0.52974	0.306000	0.20318	GAG	EFCAB13	-	NULL		0.353	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	G	NM_152347		45490240	1	no_errors	ENST00000331493	ensembl	human	known	70_37	missense	SNP	0.594	A	A	45490240	G	A	45490240	3	1	54	1	0	0	0	0	1	0	0	0	1869	1291	45	1	2454	1	C17orf57	17	45490240	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	4489016	45490240	35704970	246	7273										
GH2	2689	genome.wustl.edu	37	chr17	61958007	61958007	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gaggattcacgaggggaaatGaagaatacggtgagttctct	14	5	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:61958007G>A	ENST00000423893.2	-	4	518				GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000332800.7_Missense_Mutation_p.S194L			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGGGGAAATGAAGAATACGG	0.557																																																	0													86	88	88					17																	61958007		2203	4300	6503	SO:0001627	intron_variant	2689			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.456+124C>T	17.37:g.61958007G>A			B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.S194L	ENST00000423893.2	37	c.581	CCDS11647.1	17	.	.	.	.	.	.	.	.	.	.	g	11.25	1.583343	0.28268	.	.	ENSG00000136487	ENST00000332800	D	0.88277	-2.36	2.46	0.246	0.15516	.	0.565183	0.18784	N	0.131241	T	0.79221	0.4409	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.68708	-0.5337	9	0.87932	D	0	.	3.1652	0.06533	0.1778:0.2885:0.5337:0.0	.	194	B1A4H7	.	L	194	ENSP00000333157:S194L	ENSP00000333157:S194L	S	-	2	0	GH2	59311739	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.167000	0.16602	0.333000	0.23563	0.306000	0.20318	TCA	GH2	-	NULL		0.557	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	G	NM_002059		61958007	-1	no_errors	ENST00000332800	ensembl	human	known	70_37	missense	SNP	0.001	A	A	61958007	G	A	61958007	1	1	54	0	1	0	0	0	0	0	0	0	6387	1294	45	1		1	GH2	17	61958007	Intron	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	16467767	61958007	19237203	247	7274										
KCNJ16	3773	genome.wustl.edu	37	chr17	68128780	68128780	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agagcccaaaccattcgtttCagctactttgcacttatagg	7	11	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:68128780C>T	ENST00000589377.1	+	2	715	c.552C>T	c.(550-552)ttC>ttT	p.F184F	KCNJ16_ENST00000392671.1_Silent_p.F184F|KCNJ16_ENST00000283936.1_Silent_p.F184F|KCNJ16_ENST00000585558.1_Silent_p.F219F|KCNJ16_ENST00000392670.1_Silent_p.F184F|KCNJ16_ENST00000586462.1_Silent_p.F223F	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	184					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCATTCGTTTCAGCTACTTTG	0.458																																																	0													89	81	84					17																	68128780		2203	4300	6503	SO:0001819	synonymous_variant	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.552C>T	17.37:g.68128780C>T				Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.F184	ENST00000589377.1	37	c.552	CCDS11687.1	17																																																																																			KCNJ16	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.458	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	C	NM_018658		68128780	1	no_errors	ENST00000283936	ensembl	human	known	70_37	silent	SNP	0.986	T	T	68128780	C	T	68128780	2	4	54	1	0	0	0	0	0	0	0	1	8070	825	29	1		1	KCNJ16	17	68128780	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6170773	68128780	13066430	248	7275										
COG1	9382	genome.wustl.edu	37	chr17	71193179	71193179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cacagacttcctgctggccaGaaaggcaactattcagaaac	8	12	1	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:71193179G>A	ENST00000299886.4	+	3	781	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	234					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGCTGGCCAGAAAGGCAACT	0.522																																																	0													52	54	54					17																	71193179		2203	4300	6503	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.701G>A	17.37:g.71193179G>A	ENSP00000299886:p.Arg234Lys		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.R234K	ENST00000299886.4	37	c.701	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658592	0.67586	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.60299	0.22;0.2	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	1.0;0.973;1.0	D;P;D	0.80764	0.994;0.77;0.994	T	0.74719	-0.3570	10	0.66056	D	0.02	-9.1963	19.4837	0.95020	0.0:0.0:1.0:0.0	.	234;234;234	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	K	234	ENSP00000400111:R234K;ENSP00000299886:R234K	ENSP00000299886:R234K	R	+	2	0	COG1	68704774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.345000	0.97053	2.607000	0.88179	0.655000	0.94253	AGA	COG1	-	NULL		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	G			71193179	1	no_errors	ENST00000299886	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71193179	G	A	71193179	3	1	54	1	0	0	0	0	1	0	0	0	3662	942	33	1	711	1	COG1	17	71193179	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3064399	71193179	10002031	249	7276										
ZACN	353174	genome.wustl.edu	37	chr17	74078000	74078000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctgctgctgctgctcttcctCagcaccatagagactgtgct	9	14	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:74078000C>T	ENST00000334586.5	+	8	1001	c.918C>T	c.(916-918)ctC>ctT	p.L306L	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	306	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TGCTCTTCCTCAGCACCATAG	0.662																																																	0													65	53	57					17																	74078000		2203	4300	6503	SO:0001819	synonymous_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.918C>T	17.37:g.74078000C>T			Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.L306	ENST00000334586.5	37	c.918	CCDS11740.2	17																																																																																			ZACN	-	superfamily_Neurotrans-gated_channel_TM		0.662	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	C	NM_180990		74078000	1	no_errors	ENST00000334586	ensembl	human	known	70_37	silent	SNP	0.234	T	T	74078000	C	T	74078000	2	4	54	1	0	0	0	0	0	0	0	1	17541	813	29	1		1	ZACN	17	74078000	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2884821	74078000	7117210	250	7277										
ZACN	353174	genome.wustl.edu	37	chr17	74078118	74078118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agcacggcaacccagggcctCatcctgctgaaggtgggcag	14	13	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:74078118C>T	ENST00000334586.5	+	8	1119	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	346					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCAGGGCCTCATCCTGCTGA	0.697																																																	0													10	10	10					17																	74078118		2191	4285	6476	SO:0001583	missense	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.1036C>T	17.37:g.74078118C>T	ENSP00000334854:p.His346Tyr		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.H346Y	ENST00000334586.5	37	c.1036	CCDS11740.2	17	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825267	0.16749	.	.	ENSG00000186919	ENST00000334586	D	0.81579	-1.51	4.8	-9.6	0.00553	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.819760	0.01094	N	0.005255	T	0.56046	0.1959	N	0.24115	0.695	0.09310	N	1	P	0.36144	0.539	B	0.25614	0.062	T	0.55655	-0.8107	10	0.11794	T	0.64	5.2129	5.3181	0.15866	0.1891:0.5517:0.1548:0.1044	.	346	Q401N2	ZACN_HUMAN	Y	346	ENSP00000334854:H346Y	ENSP00000334854:H346Y	H	+	1	0	ZACN	71589713	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.861000	0.04268	-1.968000	0.01006	-0.314000	0.08810	CAT	ZACN	-	superfamily_Neurotrans-gated_channel_TM		0.697	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	C	NM_180990		74078118	1	no_errors	ENST00000334586	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74078118	C	T	74078118	3	4	54	1	0	0	0	0	1	0	0	0	17541	826	29	1	1066	1	ZACN	17	74078118	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	118	74078118	7117092	251	7278										
TMC6	11322	genome.wustl.edu	37	chr17	76116778	76116778	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtgtccagcaacatgaggacGaagtccatcaccaggaaccg	11	12	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:76116778G>A	ENST00000590602.1	-	13	1830	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	TMC6_ENST00000392467.3_Silent_p.F557F|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000322914.3_Silent_p.F557F|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	557					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACATGAGGACGAAGTCCATCA	0.632																																																	0													166	158	161					17																	76116778		2203	4300	6503	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1671C>T	17.37:g.76116778G>A			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.F557	ENST00000590602.1	37	c.1671	CCDS32748.1	17																																																																																			TMC6	-	pfam_TMC		0.632	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76116778	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	0.856	A	A	76116778	G	A	76116778	2	1	54	1	0	0	0	0	0	0	0	1	16019	1049	37	1		1	TMC6	17	76116778	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2038660	76116778	5078432	252	7279										
RNF213	57674	genome.wustl.edu	37	chr17	78269550	78269550	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gttgtgtcacctcctaacctCagatgccagctcaccagatg	8	14	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:78269550C>G	ENST00000582970.1	+	10	2092	c.1949C>G	c.(1948-1950)tCa>tGa	p.S650*	RNF213_ENST00000319921.4_Nonsense_Mutation_p.S650*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.S650*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.S699*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	650					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCTAACCTCAGATGCCAGC	0.408																																																	0													132	120	124					17																	78269550		2203	4300	6503	SO:0001587	stop_gained	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1949C>G	17.37:g.78269550C>G	ENSP00000464087:p.Ser650*		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S650*	ENST00000582970.1	37	c.1949	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.660594	0.97743	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.15	-1.45	0.08828	.	3.392000	0.01184	N	0.007173	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-0.5978	3.938	0.09314	0.0:0.3886:0.1827:0.4287	.	.	.	.	X	650;699;650;650	.	ENSP00000324392:S650X	S	+	2	0	RNF213	75884145	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.127000	0.10547	-0.095000	0.12351	0.558000	0.71614	TCA	RNF213	-	NULL		0.408	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78269550	1	no_errors	ENST00000582970	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	78269550	C	G	78269550	4	3	54	1	0	0	0	0	0	1	0	0	13507	838	29	1	2134	1	RNF213	17	78269550	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2152772	78269550	2925660	253	7280										
RNF213	57674	genome.wustl.edu	37	chr17	78269596	78269596	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caccgtgacctaagccacatCcttgggatacctcagaggta	9	13	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:78269596C>T	ENST00000582970.1	+	10	2138	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	RNF213_ENST00000319921.4_Silent_p.I665I|RNF213_ENST00000456466.1_Silent_p.I665I|RNF213_ENST00000508628.2_Silent_p.I714I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	665					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGCCACATCCTTGGGATAC	0.383																																																	0													122	113	116					17																	78269596		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1995C>T	17.37:g.78269596C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I665	ENST00000582970.1	37	c.1995	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.383	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78269596	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.021	T	T	78269596	C	T	78269596	2	4	54	1	0	0	0	0	0	0	0	1	13507	845	30	1		1	RNF213	17	78269596	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	46	78269596	2925614	254	7281										
C17orf70	80233	genome.wustl.edu	37	chr17	79514520	79514520	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gctgaagctgctgctgttctCtagcacgcaggtggccatga	13	11	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:79514520C>T	ENST00000327787.8	-	5	1634	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	C17orf70_ENST00000537152.1_Missense_Mutation_p.E379K|C17orf70_ENST00000425898.2_Missense_Mutation_p.E179K			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	530					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCTGTTCTCTAGCACGCAG	0.652																																																	0													103	89	94					17																	79514520		2203	4300	6503	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1588G>A	17.37:g.79514520C>T	ENSP00000333283:p.Glu530Lys		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.E530K	ENST00000327787.8	37	c.1588	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498979	0.26861	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.52295	0.67;0.67;0.67	4.37	-0.323	0.12709	.	0.508491	0.18919	N	0.127535	T	0.44244	0.1284	M	0.64997	1.995	0.39516	D	0.968438	B;B	0.26809	0.069;0.16	B;B	0.31337	0.05;0.128	T	0.44498	-0.9324	10	0.72032	D	0.01	.	10.4315	0.44411	0.137:0.4307:0.4323:0.0	.	530;179	Q0VG06;E7EVV8	FP100_HUMAN;.	K	530;179;379	ENSP00000333283:E530K;ENSP00000399674:E179K;ENSP00000440151:E379K	ENSP00000333283:E530K	E	-	1	0	C17orf70	77124973	0.470000	0.25854	0.027000	0.17364	0.030000	0.12068	0.238000	0.18004	-0.164000	0.10927	0.561000	0.74099	GAG	C17orf70	-	NULL		0.652	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	C	NM_025161		79514520	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.972	T	T	79514520	C	T	79514520	3	4	54	1	0	0	0	0	1	0	0	0	1881	922	32	1	1077	1	C17orf70	17	79514520	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1244924	79514520	1680690	255	7282										
ASPSCR1	79058	genome.wustl.edu	37	chr17	79954696	79954696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agcaggagcgggagcgggatCcccagcaggagcaggagcgg	20	10	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:79954696C>T	ENST00000306739.4	+	7	1004	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.P303S|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P226S	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	303					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ggagcgggatccccagcagga	0.647			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	0													43	54	50					17																	79954696		2198	4295	6493	SO:0001583	missense	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.907C>T	17.37:g.79954696C>T	ENSP00000302176:p.Pro303Ser		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG,pfam_UBX,pfscan_UBX	p.P303S	ENST00000306739.4	37	c.907	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	C	4.932	0.173229	0.09391	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.13420	2.59;2.59	2.23	-1.14	0.09741	.	0.635768	0.12450	U	0.467856	T	0.03608	0.0103	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41538	-0.9503	10	0.06625	T	0.88	.	2.6031	0.04871	0.0:0.3996:0.2693:0.3311	.	226;226;303;303;226	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	S	303;303;226	ENSP00000302176:P303S;ENSP00000306625:P303S	ENSP00000306625:P303S	P	+	1	0	ASPSCR1	77547985	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.227000	0.17795	-0.229000	0.09854	0.436000	0.28706	CCC	ASPSCR1	-	NULL		0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	C	NM_024083		79954696	1	no_errors	ENST00000306729	ensembl	human	known	70_37	missense	SNP	0.001	T	T	79954696	C	T	79954696	3	4	54	1	0	0	0	0	1	0	0	0	1060	855	30	1	933	1	ASPSCR1	17	79954696	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	440176	79954696	1240514	256	7283										
DUS1L	64118	genome.wustl.edu	37	chr17	80022092	80022092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agccgcctgaacaaacacctCcgggtcattggcacagaact	9	14	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:80022092C>T	ENST00000354321.7	-	2	741	c.256G>A	c.(256-258)Gag>Aag	p.E86K	DUS1L_ENST00000306796.5_Missense_Mutation_p.E86K			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	86							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACAAACACCTCCGGGTCATTG	0.592																																																	0													59	48	51					17																	80022092		2200	4300	6500	SO:0001583	missense	64118				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.256G>A	17.37:g.80022092C>T	ENSP00000346280:p.Glu86Lys		A6NHV4|Q96AI3	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.E86K	ENST00000354321.7	37	c.256	CCDS32775.1	17	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351298	0.61183	.	.	ENSG00000169718	ENST00000354321;ENST00000306796	T;T	0.25912	1.77;1.77	3.51	3.51	0.40186	Aldolase-type TIM barrel (1);	0.119463	0.56097	D	0.000031	T	0.23766	0.0575	L	0.37507	1.11	0.80722	D	1	B	0.27450	0.179	B	0.33960	0.173	T	0.07404	-1.0774	10	0.28530	T	0.3	-25.1922	15.2167	0.73274	0.0:1.0:0.0:0.0	.	86	Q6P1R4	DUS1L_HUMAN	K	86	ENSP00000346280:E86K;ENSP00000303515:E86K	ENSP00000303515:E86K	E	-	1	0	DUS1L	77615381	1.000000	0.71417	0.692000	0.30179	0.843000	0.47879	5.447000	0.66606	1.810000	0.52873	0.561000	0.74099	GAG	DUS1L	-	pfam_tRNA_hU_synthase		0.592	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUS1L	HGNC	protein_coding	OTTHUMT00000442347.1	C	NM_022156		80022092	-1	no_errors	ENST00000306796	ensembl	human	known	70_37	missense	SNP	0.996	T	T	80022092	C	T	80022092	3	4	54	1	0	0	0	0	1	0	0	0	4815	864	30	1	1213	1	DUS1L	17	80022092	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	67396	80022092	1173118	257	7284										
ZFP161	7541	genome.wustl.edu	37	chr18	5291062	5291062	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaggcttttcccctctgtgtCttctttcatgatccttgagg	8	11	4	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:5291062C>T	ENST00000357006.4	-	4	1483	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R382K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	382					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CCCTCTGTGTCTTCTTTCATG	0.463																																																	0													198	160	173					18																	5291062		2203	4300	6503	SO:0001583	missense	7541			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1145G>A	18.37:g.5291062C>T	ENSP00000349503:p.Arg382Lys		O00403|Q2TB80	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R382K	ENST00000357006.4	37	c.1145	CCDS11837.1	18	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324644	0.60634	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07216	3.21;3.21	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	L	0.35487	1.065	0.58432	D	0.999992	P	0.36974	0.576	B	0.31245	0.126	T	0.39251	-0.9623	10	0.19147	T	0.46	-30.9004	20.053	0.97634	0.0:1.0:0.0:0.0	.	382	O43829	ZF161_HUMAN	K	382	ENSP00000349503:R382K;ENSP00000383009:R382K	ENSP00000349503:R382K	R	-	2	0	ZFP161	5281062	1.000000	0.71417	0.559000	0.28332	0.999000	0.98932	5.883000	0.69721	2.733000	0.93635	0.650000	0.86243	AGA	ZFP161	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP161	HGNC	protein_coding	OTTHUMT00000254425.1	C	NM_003409		5291062	-1	no_errors	ENST00000357006	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5291062	C	T	5291062	3	4	54	1	0	0	0	0	1	0	0	0	17670	913	32	1	208	1	ZFP161	18	5291062	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		5291062	72786186	258	7285										
CDH2	1000	genome.wustl.edu	37	chr18	25565688	25565688	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcattaatatcaagtaaataGatctgcagcgttcctgttcc	6	9	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:25565688G>A	ENST00000269141.3	-	12	2202	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	CDH2_ENST00000399380.3_Silent_p.I562I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	593	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAAGTAAATAGATCTGCAGCG	0.408																																																	0													80	84	83					18																	25565688		2203	4300	6503	SO:0001819	synonymous_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1779C>T	18.37:g.25565688G>A			A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.I593	ENST00000269141.3	37	c.1779	CCDS11891.1	18																																																																																			CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.408	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	G	NM_001792		25565688	-1	no_errors	ENST00000269141	ensembl	human	known	70_37	silent	SNP	1.000	A	A	25565688	G	A	25565688	2	1	54	1	0	0	0	0	0	0	0	1	3110	932	33	1		1	CDH2	18	25565688	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	20274626	25565688	52511560	259	7286										
SETBP1	26040	genome.wustl.edu	37	chr18	42456540	42456540	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cattttctagattaaagactCcagtaaggaggaagtctgga	10	6	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:42456540C>G	ENST00000282030.5	+	3	836				SETBP1_ENST00000426838.4_Missense_Mutation_p.S184C	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTAAAGACTCCAGTAAGGAG	0.478									Schinzel-Giedion syndrome																																								0													51	49	50					18																	42456540		692	1591	2283	SO:0001627	intron_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.540+7292C>G	18.37:g.42456540C>G			A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	NULL	p.S184C	ENST00000282030.5	37	c.551	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	7.709	0.694712	0.15039	.	.	ENSG00000152217	ENST00000426838	.	.	.	3.16	0.0691	0.14372	.	.	.	.	.	T	0.28300	0.0699	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	7	0.72032	D	0.01	.	4.9673	0.14096	0.0:0.2367:0.3679:0.3954	.	184	Q9Y6X0-2	.	C	184	.	ENSP00000390687:S184C	S	+	2	0	SETBP1	40710538	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	-0.489000	0.06490	-0.001000	0.14495	0.462000	0.41574	TCC	SETBP1	-	NULL		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	C	NM_001130110		42456540	1	no_errors	ENST00000426838	ensembl	human	known	70_37	missense	SNP	0.001	G	G	42456540	C	G	42456540	1	3	54	0	1	0	0	0	0	0	0	0	14159	855	30	1		1	SETBP1	18	42456540	Intron	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	16890852	42456540	35620708	260	7287										
TCF4	6925	genome.wustl.edu	37	chr18	52899837	52899837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttgcaggttctcatcaccctCgtcatcggatttgatctcag	8	12	4	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:52899837C>T	ENST00000356073.4	-	17	2163	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000354452.3_Missense_Mutation_p.E518K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	518					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACCCTCGTCATCGGAT	0.468																																																	0													129	110	117					18																	52899837		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1552G>A	18.37:g.52899837C>T	ENSP00000348374:p.Glu518Lys		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E620K	ENST00000356073.4	37	c.1858	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745039	0.49151	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.18810	2.51;2.22;2.47;2.46;2.48;2.51;2.48;2.19;2.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.49640	1.575	0.80722	D	1	B;B;B;P;D;B;B;D;B	0.65815	0.038;0.172;0.065;0.919;0.992;0.038;0.038;0.995;0.371	B;B;B;B;P;B;B;D;B	0.68192	0.007;0.017;0.025;0.394;0.905;0.007;0.007;0.956;0.095	T	0.06826	-1.0805	10	0.02654	T	1	-15.4116	17.8399	0.88712	0.0:1.0:0.0:0.0	.	494;518;358;620;518;476;447;358;515	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	518;358;518;476;494;494;447;388;620	ENSP00000346440:E518K;ENSP00000409447:E358K;ENSP00000348374:E518K;ENSP00000439656:E476K;ENSP00000445202:E494K;ENSP00000440731:E494K;ENSP00000441562:E447K;ENSP00000439827:E388K;ENSP00000381382:E620K	ENSP00000346440:E518K	E	-	1	0	TCF4	51050835	0.998000	0.40836	0.998000	0.56505	0.952000	0.60782	3.845000	0.55880	2.510000	0.84645	0.467000	0.42956	GAG	TCF4	-	NULL		0.468	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	C	NM_003199		52899837	-1	no_errors	ENST00000398339	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52899837	C	T	52899837	3	4	54	1	0	0	0	0	1	0	0	0	15725	893	31	1	475	1	TCF4	18	52899837	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	10443297	52899837	25177411	261	7288										
NARS	4677	genome.wustl.edu	37	chr18	55273952	55273952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caggaggtcgtcaaaagtcaGgaaaggacactcagcttcca	11	10	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:55273952G>A	ENST00000256854.5	-	10	1488	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	NARS_ENST00000423481.2_Silent_p.L96L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	345					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAAAAGTCAGGAAAGGACAC	0.473																																																	0													185	154	164					18																	55273952		2203	4300	6503	SO:0001819	synonymous_variant	4677			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	7643	protein-coding gene	gene with protein product	"asparagine tRNA ligase 1, cytoplasmic"	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1033C>T	18.37:g.55273952G>A			B4DG16|Q53GU6	Silent	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.L345	ENST00000256854.5	37	c.1033	CCDS32837.1	18																																																																																			NARS	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb		0.473	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS	HGNC	protein_coding	OTTHUMT00000449872.2	G	NM_004539		55273952	-1	no_errors	ENST00000256854	ensembl	human	known	70_37	silent	SNP	1.000	A	A	55273952	G	A	55273952	2	1	54	1	0	0	0	0	0	0	0	1	10193	991	35	4		4	NARS	18	55273952	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2374115	55273952	22803296	262	7289										
CNDP1	84735	genome.wustl.edu	37	chr18	72223680	72223680	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtcttccagtacattgacctCcatcaggatgaatttgtgca	8	10	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:72223680C>T	ENST00000358821.3	+	2	360	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CNDP1_ENST00000582365.1_Intron|CNDP1_ENST00000585136.1_3'UTR	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	44						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACATTGACCTCCATCAGGATG	0.507																																					Melanoma(32;1029 1042 25286 38395 44237)												0													82	79	80					18																	72223680		2203	4300	6503	SO:0001819	synonymous_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.132C>T	18.37:g.72223680C>T			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.L44	ENST00000358821.3	37	c.132	CCDS12007.1	18																																																																																			CNDP1	-	pirsf_GSH_degradosome_DUG1		0.507	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	C	NM_032649		72223680	1	no_errors	ENST00000358821	ensembl	human	known	70_37	silent	SNP	0.001	T	T	72223680	C	T	72223680	2	4	54	1	0	0	0	0	0	0	0	1	3598	842	30	1		1	CNDP1	18	72223680	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	16949728	72223680	5853568	263	7290										
ZNF516	9658	genome.wustl.edu	37	chr18	74154300	74154300	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctcagctcgggcttgccgttCtccacgcaggcctcgccgct	11	18	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:74154300C>G	ENST00000443185.2	-	3	1028	c.711G>C	c.(709-711)gaG>gaC	p.E237D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTTGCCGTTCTCCACGCAGG	0.682																																																	0													12	15	14					18																	74154300		2068	4197	6265	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.711G>C	18.37:g.74154300C>G	ENSP00000394757:p.Glu237Asp			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E237D	ENST00000443185.2	37	c.711		18	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027126	0.35797	.	.	ENSG00000101493	ENST00000443185	T	0.11277	2.79	3.87	2.99	0.34606	.	1.560830	0.03852	N	0.272452	T	0.22003	0.0530	.	.	.	0.34361	D	0.691001	D	0.63046	0.992	P	0.52424	0.698	T	0.06935	-1.0799	9	0.87932	D	0	-5.45	8.3256	0.32156	0.0:0.8177:0.0:0.1823	.	237	Q92618	ZN516_HUMAN	D	237	ENSP00000394757:E237D	ENSP00000394757:E237D	E	-	3	2	ZNF516	72283288	0.991000	0.36638	0.943000	0.38184	0.910000	0.53928	0.421000	0.21280	0.968000	0.38212	0.557000	0.71058	GAG	ZNF516	-	NULL		0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		C	NM_014643		74154300	-1	no_errors	ENST00000443185	ensembl	human	known	70_37	missense	SNP	0.980	G	G	74154300	C	G	74154300	3	3	54	1	0	0	0	0	1	0	0	0	17990	912	32	1	2801	1	ZNF516	18	74154300	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1930620	74154300	3922948	264	7291										
ZNF236	7776	genome.wustl.edu	37	chr18	74587576	74587576	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tctgtcctgccgccttctctCagaaagggaatcttcagtcg	9	13	5	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:74587576C>T	ENST00000253159.8	+	6	988	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q266*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	264					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q264*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGCCTTCTCTCAGAAAGGGAA	0.527											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Nonsense(2)	lung(2)											117	119	118					18																	74587576		2021	4180	6201	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.790C>T	18.37:g.74587576C>T	ENSP00000253159:p.Gln264*	1154	B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q264*	ENST00000253159.8	37	c.790	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820175	0.90873	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.782	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000253159:Q264X	Q	+	1	0	ZNF236	72716564	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.488000	0.81441	2.757000	0.94681	0.462000	0.41574	CAG	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74587576	1	no_errors	ENST00000253159	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74587576	C	T	74587576	4	4	54	1	0	0	0	0	0	1	0	0	17819	827	29	1	812	1	ZNF236	18	74587576	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	433276	74587576	3489672	265	7292										
ZNF236	7776	genome.wustl.edu	37	chr18	74649142	74649142	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tacaagcggaagccttccttCaacaacaccgatgtctccat	6	14	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:74649142C>A	ENST00000253159.8	+	26	4817	c.4619C>A	c.(4618-4620)tCa>tAa	p.S1540*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.S1542*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1540					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCCTTCCTTCAACAACACCG	0.532																																																	0													115	118	117					18																	74649142		2075	4202	6277	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4619C>A	18.37:g.74649142C>A	ENSP00000253159:p.Ser1540*		B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1540*	ENST00000253159.8	37	c.4619	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	43	10.371404	0.99393	.	.	ENSG00000130856	ENST00000253159	.	.	.	5.81	4.95	0.65309	.	0.416111	0.24630	N	0.036892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.677	0.45792	0.0:0.8001:0.1309:0.069	.	.	.	.	X	1540	.	ENSP00000253159:S1540X	S	+	2	0	ZNF236	72778130	0.921000	0.31238	0.000000	0.03702	0.435000	0.31806	3.329000	0.52060	1.468000	0.48064	0.557000	0.71058	TCA	ZNF236	-	NULL		0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74649142	1	no_errors	ENST00000253159	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	74649142	C	A	74649142	4	1	54	1	0	0	0	0	0	1	0	0	17819	838	29	3	4721	3	ZNF236	18	74649142	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	61566	74649142	3428106	266	7293										
ABCA7	10347	genome.wustl.edu	37	chr19	1056231	1056231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctcacagcctggatgctcagGacagtctcaaggtgggaact	12	11	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:1056231G>T	ENST00000263094.6	+	32	4636	c.4405G>T	c.(4405-4407)Gac>Tac	p.D1469Y	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1469Y|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1331Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1469					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGCTCAGGACAGTCTCAA	0.632																																																	0													47	49	48					19																	1056231		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4405G>T	19.37:g.1056231G>T	ENSP00000263094:p.Asp1469Tyr		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1469Y	ENST00000263094.6	37	c.4405	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105276	0.37145	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86956	-2.19;-2.19	3.04	-4.15	0.03881	.	.	.	.	.	T	0.80919	0.4716	L	0.45698	1.435	0.09310	N	0.999999	B	0.29341	0.242	B	0.35899	0.213	T	0.69632	-0.5093	9	0.41790	T	0.15	.	6.013	0.19586	0.6599:0.1654:0.1747:0.0	.	1469	Q8IZY2	ABCA7_HUMAN	Y	1469	ENSP00000263094:D1469Y;ENSP00000414062:D1469Y	ENSP00000263094:D1469Y	D	+	1	0	ABCA7	1007231	0.320000	0.24616	0.034000	0.17996	0.264000	0.26372	0.306000	0.19279	-0.710000	0.05001	-0.258000	0.10820	GAC	ABCA7	-	NULL		0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1056231	1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	0.101	T	T	1056231	G	T	1056231	3	4	54	1	0	0	0	0	1	0	0	0	37	1174	41	3	4527	3	ABCA7	19	1056231	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		1056231	58072752	267	7294										
THOP1	7064	genome.wustl.edu	37	chr19	2794766	2794766	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtctcccctgttttagttcaGaggaatatccttgacttccc	7	12	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:2794766G>C	ENST00000307741.6	+	3	437	c.234G>C	c.(232-234)caG>caC	p.Q78H	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	78					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTAGTTCAGAGGAATATCC	0.577																																																	0													159	170	166					19																	2794766		2203	4300	6503	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.234G>C	19.37:g.2794766G>C	ENSP00000304467:p.Gln78His		B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.Q78H	ENST00000307741.6	37	c.234	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125136	0.37533	.	.	ENSG00000172009	ENST00000307741	T	0.08008	3.14	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.056467	0.64402	D	0.000001	T	0.07593	0.0191	L	0.29908	0.895	0.80722	D	1	P	0.41947	0.766	B	0.38458	0.274	T	0.26224	-1.0109	10	0.44086	T	0.13	-60.2292	13.2976	0.60307	0.0:0.0:0.8409:0.1591	.	78	P52888	THOP1_HUMAN	H	78	ENSP00000304467:Q78H	ENSP00000304467:Q78H	Q	+	3	2	THOP1	2745766	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.821000	0.48065	2.451000	0.82905	0.561000	0.74099	CAG	THOP1	-	NULL		0.577	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2794766	1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2794766	G	C	2794766	3	2	54	1	0	0	0	0	1	0	0	0	15901	933	33	1	244	1	THOP1	19	2794766	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1738535	2794766	56334217	268	7295										
TRIP10	9322	genome.wustl.edu	37	chr19	6743520	6743520	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cacagagtaagcgtaaatttGagcgggactgccgggaggca	15	8	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:6743520G>C	ENST00000313244.9	+	6	459	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	TRIP10_ENST00000596758.1_Missense_Mutation_p.E142Q|TRIP10_ENST00000600428.1_Missense_Mutation_p.E34Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.E142Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	142	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCGTAAATTTGAGCGGGACTG	0.562																																																	0													55	55	55					19																	6743520		2203	4299	6502	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.424G>C	19.37:g.6743520G>C	ENSP00000320117:p.Glu142Gln		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E142Q	ENST00000313244.9	37	c.424		19	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814845	0.70912	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.45668	0.89;2.44	4.9	4.9	0.64082	.	0.062584	0.64402	D	0.000008	T	0.43277	0.1240	M	0.84082	2.675	0.58432	D	0.999999	B;P;B	0.37352	0.168;0.591;0.001	B;B;B	0.25506	0.034;0.061;0.001	T	0.55636	-0.8110	10	0.72032	D	0.01	-25.3997	13.5805	0.61901	0.0:0.0:1.0:0.0	.	142;142;142	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	Q	142	ENSP00000320493:E142Q;ENSP00000320117:E142Q	ENSP00000320117:E142Q	E	+	1	0	TRIP10	6694520	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.594000	0.90836	2.270000	0.75569	0.462000	0.41574	GAG	TRIP10	-	NULL		0.562	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	G			6743520	1	no_errors	ENST00000313244	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6743520	G	C	6743520	3	2	54	1	0	0	0	0	1	0	0	0	16585	1291	45	1	446	1	TRIP10	19	6743520	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3948754	6743520	52385463	269	7296										
MUC16	94025	genome.wustl.edu	37	chr19	9003293	9003293	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tagctcttctaaagtctcacCtgagcaaggtcagtctgcaa	8	11	5	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:9003293C>T	ENST00000397910.4	-	50	40345	c.40142G>A	c.(40141-40143)aGg>aAg	p.R13381K	MUC16_ENST00000380951.5_Splice_Site_p.R22K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13383	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTCTCACCTGAGCAAGGT	0.488																																																	0													89	77	81					19																	9003293		1937	4137	6074	SO:0001630	splice_region_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40142+1G>A	19.37:g.9003293C>T			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R13381K	ENST00000397910.4	37	c.40142	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.40|17.40	3.378987|3.378987	0.61735|0.61735	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.26957	.|1.7;1.7	2.58|2.58	2.58|2.58	0.30949|0.30949	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.52224|0.52224	0.1721|0.1721	M|M	0.88241|0.88241	2.94|2.94	.|.	.|.	.|.	.|D;P	.|0.56968	.|0.978;0.799	.|D;P	.|0.74348	.|0.983;0.758	T|T	0.66320|0.66320	-0.5953|-0.5953	4|7	.|.	.|.	.|.	-13.0678|-13.0678	8.7824|8.7824	0.34800|0.34800	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|21026;13381	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|K	221|13381;22	.|ENSP00000381008:R13381K;ENSP00000370338:R22K	.|.	G|R	-|-	1|2	0|0	MUC16|MUC16	8864293|8864293	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.057000|0.057000	0.15508|0.15508	2.996000|2.996000	0.49449|0.49449	1.739000|1.739000	0.51704|0.51704	0.455000|0.455000	0.32223|0.32223	GGC|AGG	MUC16	-	pfam_SEA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690	Missense_Mutation	9003293	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.984	T	T	9003293	C	T	9003293	5	4	54	1	0	0	0	0	0	0	1	0	9996	695	24	4	3521	4	MUC16	19	9003293	Splice_Site	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2259773	9003293	50125690	270	7297										
MUC16	94025	genome.wustl.edu	37	chr19	9014186	9014186	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cactgctggtgttgggcgcaGaggtctgatgggtgaaacct	16	8	1	3	rs386806627		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:9014186G>C	ENST00000397910.4	-	32	38665	c.38462C>G	c.(38461-38463)tCt>tGt	p.S12821C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12823				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGGCGCAGAGGTCTGATG	0.537																																																	0													141	127	132					19																	9014186		1980	4162	6142	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38462C>G	19.37:g.9014186G>C	ENSP00000381008:p.Ser12821Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S12821C	ENST00000397910.4	37	c.38462	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	6.647	0.487918	0.12641	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	1.27	0.175	0.15045	.	.	.	.	.	T	0.28566	0.0707	M	0.79805	2.47	.	.	.	P	0.48640	0.913	B	0.37888	0.26	T	0.38520	-0.9657	8	0.87932	D	0	.	3.6191	0.08089	0.2656:0.0:0.7344:0.0	.	12821	B5ME49	.	C	12821	ENSP00000381008:S12821C	ENSP00000381008:S12821C	S	-	2	0	MUC16	8875186	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.225000	0.09151	0.114000	0.18032	0.298000	0.19748	TCT	MUC16	-	NULL		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9014186	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9014186	G	C	9014186	3	2	54	1	0	0	0	0	1	0	0	0	9996	942	33	1	5273	1	MUC16	19	9014186	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	10893	9014186	50114797	271	7298										
SLC44A2	57153	genome.wustl.edu	37	chr19	10742318	10742318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcagtggcccggagatgcttCcccgctatccacgcctacaa	10	16	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:10742318C>T	ENST00000335757.5	+	8	895	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SLC44A2_ENST00000407327.4_Silent_p.F171F|SLC44A2_ENST00000586078.1_Silent_p.F173F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	173					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGAGATGCTTCCCCGCTATCC	0.617																																																	0													62	55	58					19																	10742318		2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.519C>T	19.37:g.10742318C>T			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	pfam_Choline_transptr-like	p.F173	ENST00000335757.5	37	c.519	CCDS12245.1	19																																																																																			SLC44A2	-	NULL		0.617	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	C			10742318	1	no_errors	ENST00000335757	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10742318	C	T	10742318	2	4	54	1	0	0	0	0	0	0	0	1	14666	854	30	1		1	SLC44A2	19	10742318	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	1728132	10742318	48386665	272	7299										
BEST2	54831	genome.wustl.edu	37	chr19	12868588	12868588	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggcatggtcgcgggaggcccGctgggccggcgcctgtcctt	18	14	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:12868588G>T	ENST00000549706.1	+	10	1551	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	BEST2_ENST00000042931.1_Silent_p.P409P|BEST2_ENST00000553030.1_Silent_p.P409P			Q8NFU1	BEST2_HUMAN	bestrophin 2	409					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CGGGAGGCCCGCTGGGCCGGC	0.721																																																	0													4	5	5					19																	12868588		1474	3241	4715	SO:0001819	synonymous_variant	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1227G>T	19.37:g.12868588G>T			Q53YQ8|Q9NXP0	Silent	SNP	pfam_Bestrophin/UPF0187	p.P409	ENST00000549706.1	37	c.1227	CCDS42506.1	19																																																																																			BEST2	-	NULL		0.721	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1	G	NM_017682		12868588	1	no_errors	ENST00000042931	ensembl	human	known	70_37	silent	SNP	0.000	T	T	12868588	G	T	12868588	2	4	54	1	0	0	0	0	0	0	0	1	1406	1074	38	2		2	BEST2	19	12868588	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2126270	12868588	46260395	273	7300										
MAST1	22983	genome.wustl.edu	37	chr19	12978584	12978584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggccagtttcctggagggaGaggccagtccccctttgggc	15	12	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:12978584G>C	ENST00000251472.4	+	20	2398	c.2359G>C	c.(2359-2361)Gag>Cag	p.E787Q		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCTGGAGGGAGAGGCCAGTCC	0.697																																																	0													6	6	6					19																	12978584		2105	4126	6231	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2359G>C	19.37:g.12978584G>C	ENSP00000251472:p.Glu787Gln			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E787Q	ENST00000251472.4	37	c.2359	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897844	0.72639	.	.	ENSG00000105613	ENST00000251472	T	0.66815	-0.23	4.33	4.33	0.51752	.	0.225469	0.34725	N	0.003740	T	0.60117	0.2244	L	0.42245	1.32	0.39121	D	0.96165	P	0.41910	0.764	B	0.40602	0.334	T	0.65327	-0.6195	10	0.40728	T	0.16	-29.9655	14.7	0.69150	0.0:0.0:1.0:0.0	.	787	Q9Y2H9	MAST1_HUMAN	Q	787	ENSP00000251472:E787Q	ENSP00000251472:E787Q	E	+	1	0	MAST1	12839584	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.630000	0.83225	2.151000	0.67156	0.549000	0.68633	GAG	MAST1	-	NULL		0.697	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12978584	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.999	C	C	12978584	G	C	12978584	3	2	54	1	0	0	0	0	1	0	0	0	9347	943	33	1	2437	1	MAST1	19	12978584	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	109996	12978584	46150399	274	7301										
OR10H2	26538	genome.wustl.edu	37	chr19	15839584	15839584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggccttctccacctgtgcctCtcaccttattgtggtcattg	8	14	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:15839584C>G	ENST00000305899.3	+	1	751	c.731C>G	c.(730-732)tCt>tGt	p.S244C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCTGTGCCTCTCACCTTATT	0.537																																																	0													234	168	191					19																	15839584		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.731C>G	19.37:g.15839584C>G	ENSP00000306095:p.Ser244Cys		Q6IFQ1|Q96R58	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S244C	ENST00000305899.3	37	c.731	CCDS12333.1	19	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046391	0.36085	.	.	ENSG00000171942	ENST00000305899	T	0.39787	1.06	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.146062	0.31963	N	0.006790	T	0.70570	0.3239	M	0.94021	3.485	0.39754	D	0.97193	D	0.89917	1.0	D	0.80764	0.994	T	0.79928	-0.1596	10	0.87932	D	0	.	12.3273	0.55018	0.0:1.0:0.0:0.0	.	244	O60403	O10H2_HUMAN	C	244	ENSP00000306095:S244C	ENSP00000306095:S244C	S	+	2	0	OR10H2	15700584	0.765000	0.28485	0.075000	0.20258	0.057000	0.15508	6.894000	0.75655	1.441000	0.47550	0.531000	0.56144	TCT	OR10H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.537	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	C			15839584	1	no_errors	ENST00000305899	ensembl	human	known	70_37	missense	SNP	0.968	G	G	15839584	C	G	15839584	3	3	54	1	0	0	0	0	1	0	0	0	10930	913	32	1	733	1	OR10H2	19	15839584	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2861000	15839584	43289399	275	7302										
CILP2	148113	genome.wustl.edu	37	chr19	19649220	19649220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgcgcacctggcgggggcccGaggtgaggcgcctccagccc	17	16	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:19649220G>A	ENST00000291495.5	+	1	147	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CILP2_ENST00000586018.1_Missense_Mutation_p.R21Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	21						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGGGGGCCCGAGGTGAGGCG	0.751																																																	0													7	9	8					19																	19649220		2088	4111	6199	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.62G>A	19.37:g.19649220G>A	ENSP00000291495:p.Arg21Gln		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R21Q	ENST00000291495.5	37	c.62	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973961	0.74246	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	3.88	2.74	0.32292	.	0.000000	0.29900	N	0.010913	T	0.30448	0.0765	L	0.27053	0.805	0.31959	N	0.608623	D;D	0.58268	0.982;0.982	B;B	0.40677	0.337;0.337	T	0.42050	-0.9474	10	0.46703	T	0.11	-17.2113	8.8284	0.35069	0.0:0.2315:0.7685:0.0	.	21;21	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	21	ENSP00000291495:R21Q	ENSP00000291495:R21Q	R	+	2	0	CILP2	19510220	0.998000	0.40836	1.000000	0.80357	0.465000	0.32709	0.185000	0.16958	2.180000	0.69256	0.306000	0.20318	CGA	CILP2	-	NULL		0.751	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	G	NM_153221		19649220	1	no_errors	ENST00000291495	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19649220	G	A	19649220	3	1	54	1	0	0	0	0	1	0	0	0	3435	1058	37	1	64	1	CILP2	19	19649220	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3809636	19649220	39479763	276	7303										
ZNF493	284443	genome.wustl.edu	37	chr19	21606431	21606431	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagaaaaaccctataaatgtGaagaatgtggcaaagccttt	9	6	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:21606431G>T	ENST00000355504.4	+	2	852	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Nonsense_Mutation_p.E324*	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTATAAATGTGAAGAATGTGG	0.338																																																	0													32	37	35					19																	21606431		2200	4294	6494	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.586G>T	19.37:g.21606431G>T	ENSP00000347691:p.Glu196*		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E196*	ENST00000355504.4	37	c.586	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	14.21	2.466803	0.43839	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	0.985	-0.211	0.13172	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	0.2226	0.00170	0.2251:0.249:0.2748:0.2511	.	.	.	.	X	324;196	.	ENSP00000347691:E196X	E	+	1	0	ZNF493	21398271	0.000000	0.05858	0.217000	0.23759	0.213000	0.24496	-2.313000	0.01126	0.399000	0.25367	0.404000	0.27445	GAA	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	G	NM_175910		21606431	1	no_errors	ENST00000355504	ensembl	human	known	70_37	nonsense	SNP	0.094	T	T	21606431	G	T	21606431	4	4	54	1	0	0	0	0	0	1	0	0	17974	1291	45	3	1047	3	ZNF493	19	21606431	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1957211	21606431	37522552	277	7304										
GPI	2821	genome.wustl.edu	37	chr19	34857702	34857702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcctaggccaagtccaggggCgtggaggccgcccgggagcg	18	13	0	0	rs150838903		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:34857702C>T	ENST00000356487.5	+	3	469	c.228C>T	c.(226-228)ggC>ggT	p.G76G	GPI_ENST00000586425.1_Silent_p.G76G|GPI_ENST00000415930.3_Silent_p.G115G	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	76					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGTCCAGGGGCGTGGAGGCCG	0.617																																																	0								C	,	2,4404	4.2+/-10.8	0,2,2201	79	83	81		228,345	-1.6	1	19	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GPI	NM_000175.3,NM_001184722.1	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	76/559,115/570	34857702	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.228C>T	19.37:g.34857702C>T			B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	NULL	p.R62C	ENST00000356487.5	37	c.184	CCDS12437.1	19																																																																																			GPI	-	NULL		0.617	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	C			34857702	1	no_errors	ENST00000586425	ensembl	human	known	70_37	missense	SNP	0.891	T	T	34857702	C	T	34857702	2	4	54	1	0	0	0	0	0	0	0	1	6630	755	27	2		2	GPI	19	34857702	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	13251271	34857702	24271281	278	7305										
SARS2	54938	genome.wustl.edu	37	chr19	39416865	39416865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagcagggcccgcactgcctCagtcacagctgccttctctt	9	17	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:39416865C>T	ENST00000221431.6	-	2	502	c.343G>A	c.(343-345)Gag>Aag	p.E115K	SARS2_ENST00000448145.2_Missense_Mutation_p.E115K|SARS2_ENST00000430193.3_Missense_Mutation_p.E115K|SARS2_ENST00000594171.1_5'UTR|SARS2_ENST00000600042.1_Missense_Mutation_p.E115K|CTC-360G5.8_ENST00000599996.1_Silent_p.*184*	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	115					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCACTGCCTCAGTCACAGCT	0.572																																																	0													74	56	62					19																	39416865		2203	4300	6503	SO:0001583	missense	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.343G>A	19.37:g.39416865C>T	ENSP00000221431:p.Glu115Lys		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.E115K	ENST00000221431.6	37	c.343	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	C	2.818	-0.245532	0.05906	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145;ENST00000455102	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.47	3.36	0.38483	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (1);	0.691756	0.13772	N	0.363853	T	0.25419	0.0618	L	0.36672	1.1	.	.	.	B;B;B;B;B	0.10296	0.003;0.001;0.0;0.001;0.0	B;B;B;B;B	0.12156	0.007;0.0;0.0;0.0;0.0	T	0.18366	-1.0339	9	0.08599	T	0.76	.	10.928	0.47201	0.0:0.809:0.191:0.0	.	115;115;115;115;115	B4DJP6;E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;.;SYSM_HUMAN	K	115	ENSP00000406754:E115K;ENSP00000221431:E115K;ENSP00000399330:E115K;ENSP00000414954:E115K	ENSP00000221431:E115K	E	-	1	0	FBXO17	44108705	0.018000	0.18449	0.921000	0.36526	0.064000	0.16182	0.746000	0.26275	2.191000	0.70037	0.407000	0.27541	GAG	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-ligase_type_1		0.572	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1	C	NM_017827		39416865	-1	no_errors	ENST00000600042	ensembl	human	known	70_37	missense	SNP	0.925	T	T	39416865	C	T	39416865	3	4	54	1	0	0	0	0	1	0	0	0	13875	835	29	1	1354	1	SARS2	19	39416865	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4559163	39416865	19712118	279	7306										
CD79A	973	genome.wustl.edu	37	chr19	42381419	42381419	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caagctctgcctgccaccatCttcctcctcttcctgctgtc	5	19	3	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:42381419C>G	ENST00000221972.3	+	1	230	c.45C>G	c.(43-45)atC>atG	p.I15M	CD79A_ENST00000444740.2_Missense_Mutation_p.I15M	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	15					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CTGCCACCATCTTCCTCCTCT	0.607			"O, S"		DLBCL																																			Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	0													185	140	155					19																	42381419		2203	4300	6503	SO:0001583	missense	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.45C>G	19.37:g.42381419C>G	ENSP00000221972:p.Ile15Met		A0N775|Q53FB8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like	p.I15M	ENST00000221972.3	37	c.45	CCDS12589.1	19	.	.	.	.	.	.	.	.	.	.	C	5.763	0.325190	0.10900	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.78481	-1.18	2.77	0.524	0.17066	.	1.356410	0.05219	N	0.508239	T	0.61961	0.2389	N	0.19112	0.55	0.09310	N	1	P;P	0.40476	0.718;0.718	B;B	0.36808	0.233;0.181	T	0.55211	-0.8176	10	0.49607	T	0.09	-8.4673	5.3577	0.16071	0.2341:0.5385:0.2274:0.0	.	15;15	P11912;A0N775	CD79A_HUMAN;.	M	15	ENSP00000221972:I15M	ENSP00000221972:I15M	I	+	3	3	CD79A	47073259	0.010000	0.17322	0.002000	0.10522	0.054000	0.15201	1.290000	0.33319	0.243000	0.21327	-1.685000	0.00733	ATC	CD79A	-	NULL		0.607	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79A	HGNC	protein_coding	OTTHUMT00000463058.1	C			42381419	1	no_errors	ENST00000221972	ensembl	human	known	70_37	missense	SNP	0.003	G	G	42381419	C	G	42381419	3	3	54	1	0	0	0	0	1	0	0	0	3041	903	32	1	47	1	CD79A	19	42381419	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2964554	42381419	16747564	280	7307										
PVR	5817	genome.wustl.edu	37	chr19	45162162	45162162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tttggcactgtcatctgtgtCcctcgagtgagcatcaccag	10	12	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:45162162C>T	ENST00000425690.3	+	6	1443	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	PVR_ENST00000344956.4_Intron|PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.P382S	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	382					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCATCTGTGTCCCTCGAGTGA	0.527																																																	0													123	117	119					19																	45162162		2203	4300	6503	SO:0001583	missense	5817			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1144C>T	19.37:g.45162162C>T	ENSP00000402060:p.Pro382Ser		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P382S	ENST00000425690.3	37	c.1144	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	C	6.188	0.402793	0.11696	.	.	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.87179	-2.22;-2.14	2.54	-1.4	0.08968	.	3.494250	0.01485	U	0.016845	T	0.65428	0.2690	N	0.01352	-0.895	0.09310	N	1	B;B	0.29552	0.248;0.16	B;B	0.26202	0.067;0.03	T	0.62148	-0.6915	10	0.19590	T	0.45	.	5.3357	0.15957	0.0:0.449:0.3445:0.2065	.	382;382	P15151-4;P15151	.;PVR_HUMAN	S	382	ENSP00000402060:P382S;ENSP00000383907:P382S	ENSP00000383907:P382S	P	+	1	0	PVR	49854002	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.417000	0.21214	-0.190000	0.10465	-0.321000	0.08615	CCC	PVR	-	NULL		0.527	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	C	NM_006505		45162162	1	no_errors	ENST00000425690	ensembl	human	known	70_37	missense	SNP	0.000	T	T	45162162	C	T	45162162	3	4	54	1	0	0	0	0	1	0	0	0	12867	855	30	1	1166	1	PVR	19	45162162	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2780743	45162162	13966821	281	7308										
KLC3	147700	genome.wustl.edu	37	chr19	45851407	45851407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	accatgctcaacatcctggcGctggtgtaccggtgagcact	11	13	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:45851407G>A	ENST00000391946.2	+	5	870	c.768G>A	c.(766-768)gcG>gcA	p.A256A	KLC3_ENST00000585434.1_Silent_p.A255A|KLC3_ENST00000470402.1_Silent_p.A270A	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	256					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACATCCTGGCGCTGGTGTACC	0.672																																																	0													15	12	13					19																	45851407		2202	4295	6497	SO:0001819	synonymous_variant	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.768G>A	19.37:g.45851407G>A			A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A270	ENST00000391946.2	37	c.810	CCDS12660.2	19																																																																																			KLC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.672	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	G	NM_145275		45851407	1	no_errors	ENST00000470402	ensembl	human	known	70_37	silent	SNP	0.960	A	A	45851407	G	A	45851407	2	1	54	1	0	0	0	0	0	0	0	1	8355	1074	38	2		2	KLC3	19	45851407	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	689245	45851407	13277576	282	7309										
QPCTL	54814	genome.wustl.edu	37	chr19	46201892	46201892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggactccctttacggttccCggcacctggcccagctcatg	10	16	1	0	rs375848663		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:46201892C>T	ENST00000012049.5	+	4	942	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	QPCTL_ENST00000366382.4_Missense_Mutation_p.R147W	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	241					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TTACGGTTCCCGGCACCTGGC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16674	0		0	False		,,,				2504	0																0													39	43	42					19																	46201892		2203	4300	6503	SO:0001583	missense	54814			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.721C>T	19.37:g.46201892C>T	ENSP00000012049:p.Arg241Trp		Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.R241W	ENST00000012049.5	37	c.721	CCDS12672.1	19	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572309	0.86542	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.54071	0.59;0.59	5.83	3.67	0.42095	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78173	-0.2307	10	0.66056	D	0.02	-14.4926	9.5684	0.39414	0.0:0.7786:0.1435:0.078	.	241	Q9NXS2	QPCTL_HUMAN	W	241;147	ENSP00000012049:R241W;ENSP00000387944:R147W	ENSP00000012049:R241W	R	+	1	2	QPCTL	50893732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.194000	0.77789	0.787000	0.33731	0.655000	0.94253	CGG	QPCTL	-	pfam_Peptidase_M28		0.632	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	C	NM_017659		46201892	1	no_errors	ENST00000012049	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46201892	C	T	46201892	3	4	54	1	0	0	0	0	1	0	0	0	12905	643	23	2	735	2	QPCTL	19	46201892	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	350485	46201892	12927091	283	7310										
VRK3	51231	genome.wustl.edu	37	chr19	50498170	50498170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctccccaggctgggtaacacCaagaacctggaagacacaag	10	13	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:50498170C>T	ENST00000599538.1	-	9	1435	c.771G>A	c.(769-771)ttG>ttA	p.L257L	VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601912.1_Silent_p.L207L|VRK3_ENST00000316763.3_Silent_p.L257L|VRK3_ENST00000377011.2_Silent_p.L207L|VRK3_ENST00000593919.1_Silent_p.L257L|VRK3_ENST00000594948.1_Silent_p.L257L|VRK3_ENST00000443401.2_Silent_p.L26L|VRK3_ENST00000601341.1_Silent_p.L207L|VRK3_ENST00000594092.1_Silent_p.L257L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGGTAACACCAAGAACCTGG	0.622																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												0													47	39	41					19																	50498170		2203	4300	6503	SO:0001819	synonymous_variant	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.771G>A	19.37:g.50498170C>T			A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	NULL	p.G207S	ENST00000599538.1	37	c.619	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.326420	0.95708	.	.	ENSG00000105053	ENST00000424804	.	.	.	5.48	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.4659	9.7161	0.40276	0.0:0.9022:0.0:0.0978	.	.	.	.	X	235	.	ENSP00000402958:W235X	W	-	2	0	VRK3	55189982	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.549000	0.45803	1.433000	0.47394	0.655000	0.94253	TGG	VRK3	-	NULL		0.622	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	C	NM_016440		50498170	-1	no_errors	ENST00000596121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50498170	C	T	50498170	2	4	54	1	0	0	0	0	0	0	0	1	17252	593	21	4		4	VRK3	19	50498170	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4296278	50498170	8630813	284	7311										
MYBPC2	4606	genome.wustl.edu	37	chr19	50940944	50940944	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agaagtcggatactgcaggtGagctggatttcagtggcctg	15	7	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:50940944G>A	ENST00000357701.5	+	7	592	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	181					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACTGCAGGTGAGCTGGATTT	0.557																																																	0													81	86	84					19																	50940944		2067	4191	6258	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.541G>A	19.37:g.50940944G>A	ENSP00000350332:p.Glu181Lys		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E181K	ENST00000357701.5	37	c.541	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	18.49	3.635172	0.67130	.	.	ENSG00000086967	ENST00000357701	T	0.57907	0.37	2.49	2.49	0.30216	.	0.000000	0.35262	U	0.003336	T	0.58104	0.2099	M	0.70595	2.14	0.40539	D	0.981002	P	0.40875	0.731	P	0.48770	0.589	T	0.58578	-0.7612	10	0.22706	T	0.39	.	12.7449	0.57276	0.0:0.0:1.0:0.0	.	181	Q14324	MYPC2_HUMAN	K	181	ENSP00000350332:E181K	ENSP00000350332:E181K	E	+	1	0	MYBPC2	55632756	1.000000	0.71417	0.841000	0.33234	0.677000	0.39632	8.259000	0.89855	1.701000	0.51217	0.401000	0.26515	GAG	MYBPC2	-	NULL		0.557	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	G	NM_004533		50940944	1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	0.998	A	A	50940944	G	A	50940944	3	1	54	1	0	0	0	0	1	0	0	0	10035	1291	45	1	567	1	MYBPC2	19	50940944	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	442774	50940944	8188039	285	7312										
VN1R4	317703	genome.wustl.edu	37	chr19	53770598	53770598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gatttcctggagctgaccgtGatcacctggaagacactcaa	10	11	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:53770598G>A	ENST00000311170.4	-	1	374	c.321C>T	c.(319-321)atC>atT	p.I107I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	107					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.I107I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGCTGACCGTGATCACCTGGA	0.507										HNSCC(26;0.072)																																							1	Substitution - coding silent(1)	ovary(1)											35	28	30					19																	53770598		2203	4300	6503	SO:0001819	synonymous_variant	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.321C>T	19.37:g.53770598G>A			Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.I107	ENST00000311170.4	37	c.321	CCDS33099.1	19																																																																																			VN1R4	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	HGNC	protein_coding	OTTHUMT00000464287.1	G	NM_173857		53770598	-1	no_errors	ENST00000311170	ensembl	human	known	70_37	silent	SNP	0.191	A	A	53770598	G	A	53770598	2	1	54	1	0	0	0	0	0	0	0	1	17211	1280	45	1		1	VN1R4	19	53770598	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2829654	53770598	5358385	286	7313										
RPL28	6158	genome.wustl.edu	37	chr19	55898086	55898086	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gttttgtctggtttgggccaGagagcggcccctttcccggg	15	11	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:55898086G>C	ENST00000344063.2	+	3	834				RPL28_ENST00000560583.1_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000458349.2_Intron|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000428193.2_Intron|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000558752.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000431533.2_Missense_Mutation_p.R77T|RPL28_ENST00000558815.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTTTGGGCCAGAGAGCGGCCC	0.612																																																	0													76	82	80					19																	55898086		2203	4300	6503	SO:0001627	intron_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.205+25G>C	19.37:g.55898086G>C			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	NULL	p.R77T	ENST00000344063.2	37	c.230	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	g	3.008	-0.204630	0.06180	.	.	ENSG00000108107	ENST00000431533	T	0.53206	0.63	1.79	0.731	0.18277	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	0.999999	B	0.23058	0.079	B	0.14023	0.01	T	0.16837	-1.0389	7	.	.	.	.	4.4229	0.11490	0.2044:0.0:0.7956:0.0	.	77	G5E9L2	.	T	77	ENSP00000400596:R77T	.	R	+	2	0	RPL28	60589898	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.504000	0.02275	0.329000	0.23460	-0.479000	0.04858	AGA	RPL28	-	NULL		0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55898086	1	no_errors	ENST00000431533	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55898086	G	C	55898086	1	2	54	0	1	0	0	0	0	0	0	0	13607	942	33	1		1	RPL28	19	55898086	Intron	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	2127488	55898086	3230897	287	7314										
NLRP8	126205	genome.wustl.edu	37	chr19	56459460	56459460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cagctcttactgactgagctCagtactggcaccatgcccat	8	14	2	2	rs139646181		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:56459460C>T	ENST00000291971.3	+	1	263	c.192C>T	c.(190-192)ctC>ctT	p.L64L	NLRP8_ENST00000590542.1_Silent_p.L64L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	64	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGACTGAGCTCAGTACTGGCA	0.562																																																	0								C		0,4406		0,0,2203	109	86	94		192	1.2	0	19	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/1049	56459460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.192C>T	19.37:g.56459460C>T			Q7RTR4	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L64	ENST00000291971.3	37	c.192	CCDS12937.1	19																																																																																			NLRP8	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN		0.562	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	C	NM_176811		56459460	1	no_errors	ENST00000291971	ensembl	human	known	70_37	silent	SNP	0.002	T	T	56459460	C	T	56459460	2	4	54	1	0	0	0	0	0	0	0	1	10507	813	29	1		1	NLRP8	19	56459460	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	561374	56459460	2669523	288	7315										
USP29	57663	genome.wustl.edu	37	chr19	57640514	57640514	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tcaaaatcaccaacacatgtGaaaaaggggatattagaaaa	7	6	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:57640514G>C	ENST00000254181.4	+	4	925	c.471G>C	c.(469-471)gtG>gtC	p.V157V	USP29_ENST00000598197.1_Silent_p.V157V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	157					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACACATGTGAAAAAGGGGA	0.368																																																	0													86	83	84					19																	57640514		2203	4300	6503	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.471G>C	19.37:g.57640514G>C				Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V157	ENST00000254181.4	37	c.471	CCDS33124.1	19																																																																																			USP29	-	NULL		0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57640514	1	no_errors	ENST00000254181	ensembl	human	known	70_37	silent	SNP	0.000	C	C	57640514	G	C	57640514	2	2	54	1	0	0	0	0	0	0	0	1	17090	1277	45	1		1	USP29	19	57640514	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1181054	57640514	1488469	289	7316										
ZNF544	27300	genome.wustl.edu	37	chr19	58773505	58773505	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tatgaccttgttgtacatcaGaggacacacactggagagaa	10	8	1	3	rs201105161	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:58773505G>C	ENST00000596652.1	+	6	1767	c.1533G>C	c.(1531-1533)caG>caC	p.Q511H	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q369H|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q483H|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q483H|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q511H|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q483H			Q6NX49	ZN544_HUMAN	zinc finger protein 544	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTGTACATCAGAGGACACACA	0.443																																																	0													77	80	79					19																	58773505		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1533G>C	19.37:g.58773505G>C	ENSP00000469635:p.Gln511His		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q511H	ENST00000596652.1	37	c.1533	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079493	0.20309	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07567	3.18;3.18	2.8	0.492	0.16872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.41356	1.27	0.09310	N	0.999999	B;P;P	0.45986	0.197;0.698;0.87	B;B;B	0.37091	0.045;0.241;0.241	T	0.32771	-0.9894	9	0.72032	D	0.01	.	3.6815	0.08312	0.2585:0.2107:0.5309:0.0	.	483;483;511	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	511;483	ENSP00000269829:Q511H;ENSP00000394341:Q483H	ENSP00000269829:Q511H	Q	+	3	2	ZNF544	63465317	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.038000	0.13862	0.064000	0.16427	0.514000	0.50259	CAG	ZNF544	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	G	NM_014480		58773505	1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.001	C	C	58773505	G	C	58773505	3	2	54	1	0	0	0	0	1	0	0	0	18007	933	33	1	1547	1	ZNF544	19	58773505	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1132991	58773505	355478	290	7317										
PSMF1	9491	genome.wustl.edu	37	chr20	1115859	1115859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aaaggctaatgtaagcagtcCccaccgggagttcccccctg	10	14	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:1115859C>T	ENST00000335877.6	+	4	637	c.461C>T	c.(460-462)cCc>cTc	p.P154L	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Missense_Mutation_p.P154L|PSMF1_ENST00000381898.4_Missense_Mutation_p.P66L|PSMF1_ENST00000333082.3_Missense_Mutation_p.P154L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	154	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTAAGCAGTCCCCACCGGGAG	0.572																																																	0													111	98	102					20																	1115859		2203	4300	6503	SO:0001583	missense	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.461C>T	20.37:g.1115859C>T	ENSP00000338039:p.Pro154Leu		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	pfam_Inhibitor_PI31,pfam_PI31_Prot_Reg	p.P154L	ENST00000335877.6	37	c.461	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	C	5.449	0.267977	0.10349	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.42513	1.51;0.97;1.51;1.51;1.51	5.22	3.3	0.37823	.	0.544065	0.18802	N	0.130758	T	0.23492	0.0568	N	0.12182	0.205	0.37747	D	0.925825	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.0	T	0.07252	-1.0782	10	0.34782	T	0.22	-0.0192	9.1435	0.36919	0.0:0.8299:0.0:0.1701	.	66;66;154;154	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	L	154;66;154;66;154;154	ENSP00000327704:P154L;ENSP00000371323:P66L;ENSP00000371324:P154L;ENSP00000246015:P154L;ENSP00000338039:P154L	ENSP00000246015:P154L	P	+	2	0	PSMF1	1063859	0.090000	0.21635	0.734000	0.30879	0.020000	0.10135	1.019000	0.30014	0.782000	0.33613	0.650000	0.86243	CCC	PSMF1	-	NULL		0.572	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	C	NM_178578		1115859	1	no_errors	ENST00000333082	ensembl	human	known	70_37	missense	SNP	0.771	T	T	1115859	C	T	1115859	3	4	54	1	0	0	0	0	1	0	0	0	12737	623	22	4	475	4	PSMF1	20	1115859	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		1115859	61909661	291	7318										
FOXA2	3170	genome.wustl.edu	37	chr20	22562711	22562711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgtggtggtgctgctgctccGaggacatgaggttgttgatg	17	6	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:22562711G>A	ENST00000377115.4	-	3	1332	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	FOXA2_ENST00000419308.2_Missense_Mutation_p.S390L	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	384	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGCTCCGAGGACATGAG	0.642																																																	0													137	121	127					20																	22562711		2203	4300	6503	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1151C>T	20.37:g.22562711G>A	ENSP00000366319:p.Ser384Leu		Q8WUW4|Q96DF7	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S390L	ENST00000377115.4	37	c.1169	CCDS13147.1	20	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103938	0.56291	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	T;T;T	0.48201	0.82;0.82;0.82	4.15	4.15	0.48705	Forkhead box protein, C-terminal (1);	0.000000	0.53938	U	0.000049	T	0.66809	0.2827	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70483	-0.4859	10	0.56958	D	0.05	.	16.566	0.84599	0.0:0.0:1.0:0.0	.	384;390	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	L	384;384;390;270	ENSP00000366319:S384L;ENSP00000400341:S384L;ENSP00000315955:S390L	ENSP00000315955:S390L	S	-	2	0	FOXA2	22510711	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	9.531000	0.98054	2.288000	0.76882	0.486000	0.48141	TCG	FOXA2	-	pfam_Forkhead_box_C		0.642	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	G			22562711	-1	no_errors	ENST00000319993	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22562711	G	A	22562711	3	1	54	1	0	0	0	0	1	0	0	0	6008	1059	37	1	226	1	FOXA2	20	22562711	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	21446852	22562711	40462809	292	7319										
ZNF341	84905	genome.wustl.edu	37	chr20	32358057	32358057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	caccagtactcccacagcctCctgccacagcacagccccaa	5	21	0	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:32358057C>T	ENST00000375200.1	+	10	1946	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	ZNF341_ENST00000342427.2_Silent_p.L520L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCACAGCCTCCTGCCACAGC	0.642																																																	0													92	67	76					20																	32358057		2203	4300	6503	SO:0001819	synonymous_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1581C>T	20.37:g.32358057C>T			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L527	ENST00000375200.1	37	c.1581		20																																																																																			ZNF341	-	NULL		0.642	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		C			32358057	1	no_errors	ENST00000375200	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32358057	C	T	32358057	2	4	54	1	0	0	0	0	0	0	0	1	17887	842	30	1		1	ZNF341	20	32358057	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	9795346	32358057	30667463	293	7320										
GSS	2937	genome.wustl.edu	37	chr20	33533875	33533875	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctggggaccagtgaggggaaGagcgtgaatggggcatagct	19	6	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:33533875G>A	ENST00000216951.2	-	3	254	c.156C>T	c.(154-156)ctC>ctT	p.L52L	GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Silent_p.L52L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	52					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTGAGGGGAAGAGCGTGAATG	0.567																																																	0													130	112	118					20																	33533875		2203	4300	6503	SO:0001819	synonymous_variant	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.156C>T	20.37:g.33533875G>A			B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk	p.L52	ENST00000216951.2	37	c.156	CCDS13245.1	20																																																																																			GSS	-	pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk		0.567	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSS	HGNC	protein_coding	OTTHUMT00000078821.2	G			33533875	-1	no_errors	ENST00000216951	ensembl	human	known	70_37	silent	SNP	0.981	A	A	33533875	G	A	33533875	2	1	54	1	0	0	0	0	0	0	0	1	6849	929	33	1		1	GSS	20	33533875	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1175818	33533875	29491645	294	7321										
RALGAPB	57148	genome.wustl.edu	37	chr20	37191319	37191319	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggtctattaattgttgtgatGatggtgaaggatctcaacaa	11	4	2	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:37191319G>A	ENST00000262879.6	+	24	3960	c.3676G>A	c.(3676-3678)Gat>Aat	p.D1226N	RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1226N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1004N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1222N			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1226	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGTTGTGATGATGGTGAAGG	0.403																																																	0													175	155	162					20																	37191319		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3676G>A	20.37:g.37191319G>A	ENSP00000262879:p.Asp1226Asn		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D1226N	ENST00000262879.6	37	c.3676	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097233	0.76870	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.8	5.8	0.92144	Rap/ran-GAP (1);	0.142719	0.64402	D	0.000007	D	0.89234	0.6657	N	0.16368	0.405	0.58432	D	0.999999	P;P	0.37330	0.59;0.59	B;B	0.41202	0.35;0.35	D	0.86486	0.1794	10	0.16420	T	0.52	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	1222;1226	A2A2E9;Q86X10	.;RLGPB_HUMAN	N	1226;1222;1004;1226;1054	ENSP00000262879:D1226N;ENSP00000380235:D1222N;ENSP00000380231:D1004N;ENSP00000380233:D1226N;ENSP00000416646:D1054N	ENSP00000262879:D1226N	D	+	1	0	RALGAPB	36624733	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	5.260000	0.65490	2.758000	0.94735	0.563000	0.77884	GAT	RALGAPB	-	pfscan_Rap_GAP		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	G	NM_020336		37191319	1	no_errors	ENST00000262879	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37191319	G	A	37191319	3	1	54	1	0	0	0	0	1	0	0	0	13045	1290	45	1	3766	1	RALGAPB	20	37191319	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	3657444	37191319	25834201	295	7322										
SLC12A5	57468	genome.wustl.edu	37	chr20	44681732	44681732	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gtgcacgatggaggcatgctCatgctgctgcccttcctgct	12	13	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:44681732C>G	ENST00000454036.2	+	19	2632	c.2583C>G	c.(2581-2583)ctC>ctG	p.L861L	SLC12A5_ENST00000243964.3_Silent_p.L838L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	861					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGGCATGCTCATGCTGCTGC	0.532																																																	0													202	123	150					20																	44681732		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2583C>G	20.37:g.44681732C>G			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L861	ENST00000454036.2	37	c.2583	CCDS46610.1	20																																																																																			SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44681732	1	no_errors	ENST00000454036	ensembl	human	known	70_37	silent	SNP	1.000	G	G	44681732	C	G	44681732	2	3	54	1	0	0	0	0	0	0	0	1	14416	813	29	1		1	SLC12A5	20	44681732	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	7490413	44681732	18343788	296	7323										
ZNF831	128611	genome.wustl.edu	37	chr20	57768903	57768903	+	Silent	SNP	C	C	T													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttttcccccaagtacctcctCaggttacctcaggcagagac							TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:57768903C>T	ENST00000371030.2	+	1	2829	c.2829C>T	c.(2827-2829)ctC>ctT	p.L943L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	943							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTACCTCCTCAGGTTACCTC	0.637																																																	0													83	83	83					20																	57768903		1989	4167	6156	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2829C>T	20.37:g.57768903C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L943	ENST00000371030.2	37	c.2829	CCDS42894.1	20																																																																																			ZNF831	-	NULL		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768903	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	silent	SNP	0.995	T	T	57768903	C	T	57768903	2	4	54	1	0	0	0	0	0	0	0	1	18215	813	29	1		1	ZNF831	20	57768903	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	13087171	57768903	5256617	297	7324	38	2								
ZNF831	128611	genome.wustl.edu	37	chr20	57768913	57768913	+	Nonsense_Mutation	SNP	C	C	T													0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agtacctcctcaggttacctCaggcagagacccccttacca							TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:57768913C>T	ENST00000371030.2	+	1	2839	c.2839C>T	c.(2839-2841)Cag>Tag	p.Q947*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	947							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGGTTACCTCAGGCAGAGAC	0.607																																																	0													85	86	85					20																	57768913		2001	4169	6170	SO:0001587	stop_gained	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2839C>T	20.37:g.57768913C>T	ENSP00000360069:p.Gln947*		Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q947*	ENST00000371030.2	37	c.2839	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	41	9.010828	0.99035	.	.	ENSG00000124203	ENST00000371030	.	.	.	5.05	5.05	0.67936	.	0.251758	0.28301	N	0.015845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.6505	15.9364	0.79712	0.0:1.0:0.0:0.0	.	.	.	.	X	947	.	ENSP00000360069:Q947X	Q	+	1	0	ZNF831	57202308	.	.	0.977000	0.42913	0.803000	0.45373	.	.	2.504000	0.84457	0.655000	0.94253	CAG	ZNF831	-	NULL		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768913	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	nonsense	SNP	0.998	T	T	57768913	C	T	57768913	4	4	54	1	0	0	0	0	0	1	0	0	18215	827	29	1	2841	1	ZNF831	20	57768913	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	10	57768913	5256607	298	7325	38	2								
ZNF831	128611	genome.wustl.edu	37	chr20	57768971	57768971	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	accaaggcacagccaggactCtctctgcagcagtgggtggc	13	13	2	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:57768971C>G	ENST00000371030.2	+	1	2897	c.2897C>G	c.(2896-2898)tCt>tGt	p.S966C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	966							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCAGGACTCTCTCTGCAGC	0.607																																																	0													80	83	82					20																	57768971		2032	4187	6219	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2897C>G	20.37:g.57768971C>G	ENSP00000360069:p.Ser966Cys		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S966C	ENST00000371030.2	37	c.2897	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319958	0.23994	.	.	ENSG00000124203	ENST00000371030	T	0.05513	3.43	5.05	-0.298	0.12814	.	0.767177	0.11911	N	0.517628	T	0.08626	0.0214	L	0.40543	1.245	0.09310	N	1	D	0.59357	0.985	P	0.49999	0.628	T	0.28459	-1.0043	10	0.72032	D	0.01	0.0161	7.6211	0.28185	0.0:0.5476:0.0:0.4524	.	966	Q5JPB2	ZN831_HUMAN	C	966	ENSP00000360069:S966C	ENSP00000360069:S966C	S	+	2	0	ZNF831	57202366	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.474000	0.22148	0.011000	0.14865	-0.140000	0.14226	TCT	ZNF831	-	NULL		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768971	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	missense	SNP	0.000	G	G	57768971	C	G	57768971	3	3	54	1	0	0	0	0	1	0	0	0	18215	913	32	1	2899	1	ZNF831	20	57768971	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	58	57768971	5256549	299	7326										
COL20A1	57642	genome.wustl.edu	37	chr20	61939375	61939375	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gagtgggacctgaactccctCagcaccaaggaacaggtgct	12	12	1	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:61939375C>G	ENST00000358894.6	+	7	808	c.708C>G	c.(706-708)ctC>ctG	p.L236L	COL20A1_ENST00000435874.1_Silent_p.L243L|COL20A1_ENST00000326996.6_Silent_p.L236L|COL20A1_ENST00000422202.1_Silent_p.L243L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	236	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGAACTCCCTCAGCACCAAGG	0.642																																																	0													43	49	47					20																	61939375		2144	4238	6382	SO:0001819	synonymous_variant	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.708C>G	20.37:g.61939375C>G			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L236	ENST00000358894.6	37	c.708	CCDS46628.1	20																																																																																			COL20A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.642	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	C	NM_020882		61939375	1	no_errors	ENST00000326996	ensembl	human	known	70_37	silent	SNP	0.002	G	G	61939375	C	G	61939375	2	3	54	1	0	0	0	0	0	0	0	1	3684	813	29	1		1	COL20A1	20	61939375	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	4170404	61939375	1086145	300	7327										
PRIC285	85441	genome.wustl.edu	37	chr20	62195045	62195045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcaagtgcgtgctggaggctGaaggcctggcagagcccatc	16	11	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:62195045G>A	ENST00000467148.1	-	8	5199	c.5130C>T	c.(5128-5130)ttC>ttT	p.F1710F	HELZ2_ENST00000427522.2_Silent_p.F1141F	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1710					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTGGAGGCTGAAGGCCTGGC	0.677																																																	0													11	13	12					20																	62195045		2171	4286	6457	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5130C>T	20.37:g.62195045G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.F1710	ENST00000467148.1	37	c.5130	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62195045	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.471	A	A	62195045	G	A	62195045	2	1	54	1	0	0	0	0	0	0	0	1	12512	1281	45	1		1	PRIC285	20	62195045	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	255670	62195045	830475	301	7328										
HUNK	30811	genome.wustl.edu	37	chr21	33346885	33346885	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	aggatttctctggaagatctGagcccgagcgtcgtgctgca	13	10	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr21:33346885G>C	ENST00000270112.2	+	7	1389	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	343					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGAAGATCTGAGCCCGAGCG	0.592																																																	0													120	113	115					21																	33346885		2203	4300	6503	SO:0001819	synonymous_variant	30811			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1029G>C	21.37:g.33346885G>C				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L343	ENST00000270112.2	37	c.1029	CCDS13610.1	21																																																																																			HUNK	-	superfamily_Kinase-like_dom		0.592	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	G	NM_014586		33346885	1	no_errors	ENST00000270112	ensembl	human	known	70_37	silent	SNP	1.000	C	C	33346885	G	C	33346885	2	2	54	1	0	0	0	0	0	0	0	1	7478	1277	45	1		1	HUNK	21	33346885	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		33346885	14783010	302	7329										
DYRK1A	1859	genome.wustl.edu	37	chr21	38884298	38884298	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttgaaactcatcctgttcaaGaaacaacctttcatgtagcc	5	11	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr21:38884298G>C	ENST00000398960.2	+	11	1831	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	DYRK1A_ENST00000339659.4_Missense_Mutation_p.E577Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E358Q|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	586					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCTGTTCAAGAAACAACCTT	0.483																																					Melanoma(114;464 1602 31203 43785 45765)												0													109	92	98					21																	38884298		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1756G>C	21.37:g.38884298G>C	ENSP00000381932:p.Glu586Gln		O60769|Q92582|Q92810|Q9UNM5	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.E586Q	ENST00000398960.2	37	c.1756	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.372575	0.95923	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.56103	0.48;0.48;1.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.981;0.993	D;P	0.65140	0.932;0.794	T	0.49331	-0.8951	10	0.14252	T	0.57	.	19.4686	0.94952	0.0:0.0:1.0:0.0	.	586;577	Q13627;Q13627-2	DYR1A_HUMAN;.	Q	577;586;358	ENSP00000340373:E577Q;ENSP00000381932:E586Q;ENSP00000407854:E358Q	ENSP00000340373:E577Q	E	+	1	0	DYRK1A	37806168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.608000	0.88229	0.655000	0.94253	GAA	DYRK1A	-	NULL		0.483	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	G	NM_001396		38884298	1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38884298	G	C	38884298	3	2	54	1	0	0	0	0	1	0	0	0	4864	943	33	1	1882	1	DYRK1A	21	38884298	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	5537413	38884298	9245597	303	7330										
SGSM1	129049	genome.wustl.edu	37	chr22	25289571	25289571	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttgcacagggactcaaccatCagcaatgaggtgatgggcgg	14	9	2	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:25289571C>T	ENST00000400359.4	+	18	2116	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	SGSM1_ENST00000400358.4_Silent_p.I648I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	703	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTCAACCATCAGCAATGAGG	0.642																																																	0													15	17	16					22																	25289571		1958	4143	6101	SO:0001819	synonymous_variant	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2109C>T	22.37:g.25289571C>T			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.I703	ENST00000400359.4	37	c.2109	CCDS46674.1	22																																																																																			SGSM1	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.642	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25289571	1	no_errors	ENST00000400359	ensembl	human	known	70_37	silent	SNP	1.000	T	T	25289571	C	T	25289571	2	4	54	1	0	0	0	0	0	0	0	1	14252	816	29	1		1	SGSM1	22	25289571	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09		25289571	26014995	304	7331										
MYH9	4627	genome.wustl.edu	37	chr22	36680288	36680288	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agctgccgcttgagctgcttCaggcgggtagatgccttgtc	14	11	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:36680288C>T	ENST00000216181.5	-	40	5846	c.5616G>A	c.(5614-5616)ctG>ctA	p.L1872L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1872					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGAGCTGCTTCAGGCGGGTAG	0.701			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													22	26	24					22																	36680288		2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5616G>A	22.37:g.36680288C>T			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1872	ENST00000216181.5	37	c.5616	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.701	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36680288	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36680288	C	T	36680288	2	4	54	1	0	0	0	0	0	0	0	1	10065	813	29	1		1	MYH9	22	36680288	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	11390717	36680288	14624278	305	7332										
NFAM1	150372	genome.wustl.edu	37	chr22	42807594	42807594	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gttggcttcttagggctcctCtgtccctggagatcttcatg	11	11	4	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:42807594C>T	ENST00000329021.5	-	2	307	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	90	Ig-like V-type.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						TAGGGCTCCTCTGTCCCTGGA	0.542																																																	0													187	168	174					22																	42807594		2203	4300	6503	SO:0001819	synonymous_variant	150372			BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.270G>A	22.37:g.42807594C>T			B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Silent	SNP	pfscan_Phos_immunorcpt_sig_ITAM	p.Q90	ENST00000329021.5	37	c.270	CCDS14034.1	22																																																																																			NFAM1	-	NULL		0.542	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFAM1	HGNC	protein_coding	OTTHUMT00000320541.1	C	NM_145912		42807594	-1	no_errors	ENST00000329021	ensembl	human	known	70_37	silent	SNP	0.001	T	T	42807594	C	T	42807594	2	4	54	1	0	0	0	0	0	0	0	1	10382	912	32	1		1	NFAM1	22	42807594	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	6127306	42807594	8496972	306	7333										
PANX2	56666	genome.wustl.edu	37	chr22	50615963	50615963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcggcaggtgcggggcccgcGgtgcgcgtgagctgcaagct	20	12	0	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:50615963G>A	ENST00000395842.2	+	2	822	c.822G>A	c.(820-822)gcG>gcA	p.A274A	PANX2_ENST00000159647.5_Silent_p.A274A	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	274					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGGGGCCCGCGGTGCGCGTGA	0.667																																																	0													36	29	31					22																	50615963		2188	4297	6485	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.822G>A	22.37:g.50615963G>A			B7Z684|Q96RD5|Q9UGX8	Silent	SNP	pfam_Innexin,pfscan_Innexin	p.A274	ENST00000395842.2	37	c.822	CCDS14085.2	22																																																																																			PANX2	-	pfscan_Innexin		0.667	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	G	NM_052839		50615963	1	no_errors	ENST00000395842	ensembl	human	known	70_37	silent	SNP	0.358	A	A	50615963	G	A	50615963	2	1	54	1	0	0	0	0	0	0	0	1	11445	1103	39	2		2	PANX2	22	50615963	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	7808369	50615963	688603	307	7334										
LMF2	91289	genome.wustl.edu	37	chr22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agtgacacgcacaggtggccGtcttcttgcggctgccgtgg	15	12	2	1	rs149785243		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:50944111G>A	ENST00000474879.2	-	6	923	c.908C>T	c.(907-909)aCg>aTg	p.T303M	LMF2_ENST00000380796.3_Missense_Mutation_p.T303M|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.T278M|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	39	43	42		908	-6.8	0	22	dbSNP_134	42	0,8600		0,0,4300	no	missense	LMF2	NM_033200.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	303/708	50944111	1,13005	2203	4300	6503	SO:0001583	missense	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.908C>T	22.37:g.50944111G>A	ENSP00000424381:p.Thr303Met		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	pfam_LMF	p.T303M	ENST00000474879.2	37	c.908	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	G	3.098	-0.185364	0.06340	2.27E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.24151	1.87;1.87;1.87	4.79	-6.81	0.01704	.	1.253180	0.05123	N	0.491092	T	0.11024	0.0269	N	0.16790	0.44	0.09310	N	1	B;P	0.35793	0.036;0.521	B;B	0.20767	0.021;0.031	T	0.23440	-1.0188	10	0.46703	T	0.11	0.0147	7.7721	0.29015	0.6114:0.0:0.2756:0.113	.	303;278	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	M	303;303;278	ENSP00000370173:T303M;ENSP00000424381:T303M;ENSP00000216080:T278M	ENSP00000216080:T278M	T	-	2	0	LMF2	49290977	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.787000	0.01764	-1.263000	0.02455	-0.302000	0.09304	ACG	LMF2	-	pfam_LMF		0.642	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	G	NM_033200		50944111	-1	no_errors	ENST00000474879	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50944111	G	A	50944111	3	1	54	1	0	0	0	0	1	0	0	0	8867	1145	40	2	1251	2	LMF2	22	50944111	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	328148	50944111	360455	308	7335										
SHANK3	85358	genome.wustl.edu	37	chr22	51113565	51113565	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cacagcctccaggacgcgctCaactatgggcttttccagcc	9	16	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:51113565C>T	ENST00000414786.2	+	2	380	c.153C>T	c.(151-153)ctC>ctT	p.L51L	SHANK3_ENST00000445220.2_Silent_p.L51L|SHANK3_ENST00000262795.3_Silent_p.L51L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	51	Intramolecular interaction with the ANK repeats. {ECO:0000250}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGACGCGCTCAACTATGGGC	0.716																																																	0													6	7	7					22																	51113565		1811	3908	5719	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.153C>T	22.37:g.51113565C>T			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.L51	ENST00000414786.2	37	c.153		22																																																																																			SHANK3	-	NULL		0.716	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	C	NM_001080420		51113565	1	no_errors	ENST00000262795	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51113565	C	T	51113565	2	4	54	1	0	0	0	0	0	0	0	1	14296	813	29	1		1	SHANK3	22	51113565	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	169454	51113565	191001	309	7336										
P2RY8	286530	genome.wustl.edu	37	chrX	1585319	1585319	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcgccggcacagcacccacaGagagaagaggttgcccggga	15	13	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:1585319G>C	ENST00000381297.4	-	2	343	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCACCCACAGAGAGAAGAGG	0.662			T	CRLF2	"B-ALL, Downs associated ALL"																																			Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													50	51	50					X																	1585319		2203	4296	6499	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.133C>G	X.37:g.1585319G>C	ENSP00000370697:p.Leu45Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.L45V	ENST00000381297.4	37	c.133	CCDS14115.1	X	.	.	.	.	.	.	.	.	.	.	g	8.378	0.836827	0.16891	.	.	ENSG00000182162	ENST00000381297	T	0.72835	-0.69	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.098253	0.42420	U	0.000711	T	0.80513	0.4637	M	0.70903	2.155	0.09310	N	0.999992	D	0.76494	0.999	D	0.68943	0.961	T	0.72381	-0.4311	10	0.72032	D	0.01	.	12.2776	0.54744	0.0:0.0:1.0:0.0	.	45	Q86VZ1	P2RY8_HUMAN	V	45	ENSP00000370697:L45V	ENSP00000370697:L45V	L	-	1	2	P2RY8	1545319	0.998000	0.40836	0.324000	0.25361	0.020000	0.10135	2.342000	0.43992	0.637000	0.30526	0.279000	0.19357	CTG	P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	G	NM_178129		1585319	-1	no_errors	ENST00000381297	ensembl	human	known	70_37	missense	SNP	0.998	C	C	1585319	G	C	1585319	3	2	54	1	0	0	0	0	1	0	0	0	11379	933	33	1	950	1	P2RY8	23	1585319	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09		1585319	153685241	310	7337										
TBL1X	6907	genome.wustl.edu	37	chrX	9673058	9673058	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gcccttgatgtggactggcaGaacaacacgacctttgcctc	10	13	0	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:9673058G>C	ENST00000217964.7	+	13	1780	c.1140G>C	c.(1138-1140)caG>caC	p.Q380H	TBL1X_ENST00000424279.1_Missense_Mutation_p.Q329H|TBL1X_ENST00000380961.1_Missense_Mutation_p.Q329H|TBL1X_ENST00000536365.1_Missense_Mutation_p.Q329H|TBL1X_ENST00000407597.2_Missense_Mutation_p.Q380H	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	380					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGACTGGCAGAACAACACGA	0.532																																																	0													232	136	169					X																	9673058		2203	4300	6503	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1140G>C	X.37:g.9673058G>C	ENSP00000217964:p.Gln380His		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q380H	ENST00000217964.7	37	c.1140	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718048	0.48622	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	3.75	2.87	0.33458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.39085	1.19	0.58432	D	0.999996	D;D	0.71674	0.998;0.985	D;D	0.70016	0.967;0.967	T	0.76506	-0.2934	10	0.51188	T	0.08	.	8.0025	0.30306	0.198:0.0:0.802:0.0	.	343;380	Q59F53;O60907	.;TBL1X_HUMAN	H	380;329;329;329;380	ENSP00000385988:Q380H;ENSP00000394097:Q329H;ENSP00000445317:Q329H;ENSP00000370348:Q329H;ENSP00000217964:Q380H	ENSP00000217964:Q380H	Q	+	3	2	TBL1X	9633058	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.142000	0.50601	0.555000	0.29079	0.600000	0.82982	CAG	TBL1X	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.532	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	G	NM_005647		9673058	1	no_errors	ENST00000217964	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9673058	G	C	9673058	3	2	54	1	0	0	0	0	1	0	0	0	15669	933	33	1	1178	1	TBL1X	23	9673058	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	8087739	9673058	145597502	311	7338										
NHS	4810	genome.wustl.edu	37	chrX	17745123	17745123	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ttatagatctctatctaattCaagcaccgctacgggtacca	6	11	3	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:17745123C>G	ENST00000380060.3	+	6	3172	c.2834C>G	c.(2833-2835)tCa>tGa	p.S945*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S789*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	966					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTATCTAATTCAAGCACCGCT	0.438																																																	0													108	104	105					X																	17745123		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2834C>G	X.37:g.17745123C>G	ENSP00000369400:p.Ser945*		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	NULL	p.S945*	ENST00000380060.3	37	c.2834	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	43	10.003552	0.99315	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.93	5.93	0.95920	.	0.055012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.5647	19.2927	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	X	945;789;787	.	ENSP00000369397:S787X	S	+	2	0	NHS	17655044	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.509000	0.84616	0.538000	0.68166	TCA	NHS	-	NULL		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17745123	1	no_errors	ENST00000380060	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	17745123	C	G	17745123	4	3	54	1	0	0	0	0	0	1	0	0	10435	838	29	1	2961	1	NHS	23	17745123	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	8072065	17745123	137525437	312	7339										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765143	27765143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agacattgacatagcgacctCagagctgagtgtgacagtga	12	8	1	6			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:27765143C>T	ENST00000451261.2	+	5	530	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	44										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAGCGACCTCAGAGCTGAGT	0.557																																																	0													64	48	53					X																	27765143		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.131C>T	X.37:g.27765143C>T	ENSP00000462745:p.Ser44Leu		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S44L	ENST00000451261.2	37	c.131	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.557	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27765143	1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	0.008	T	T	27765143	C	T	27765143	3	4	54	1	0	0	0	0	1	0	0	0	4283	838	29	1	133	1	DCAF8L2	23	27765143	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	10020020	27765143	127505417	313	7340										
TRO	7216	genome.wustl.edu	37	chrX	54955746	54955746	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	gctggctttagtggtgtactCagcactagcaccagctttgg	12	10	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:54955746C>G	ENST00000173898.7	+	12	2701	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.L466L|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.L394L|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	863	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGGTGTACTCAGCACTAGCA	0.567																																																	0													45	42	43					X																	54955746		2161	4234	6395	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2589C>G	X.37:g.54955746C>G			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L863	ENST00000173898.7	37	c.2589	CCDS43959.1	X																																																																																			TRO	-	NULL		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	C	NM_016157		54955746	1	no_errors	ENST00000173898	ensembl	human	known	70_37	silent	SNP	0.000	G	G	54955746	C	G	54955746	2	3	54	1	0	0	0	0	0	0	0	1	16605	813	29	1		1	TRO	23	54955746	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	27190603	54955746	100314814	314	7341										
USP51	158880	genome.wustl.edu	37	chrX	55513291	55513291	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	agtaaatacccttcactgtaGagtaagtcctcaatggtagc	8	9	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:55513291G>C	ENST00000500968.3	-	2	2164	c.2082C>G	c.(2080-2082)ctC>ctG	p.L694L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	694	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CTTCACTGTAGAGTAAGTCCT	0.433																																																	0													88	74	79					X																	55513291		2203	4300	6503	SO:0001819	synonymous_variant	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2082C>G	X.37:g.55513291G>C			Q8IWJ8	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L694	ENST00000500968.3	37	c.2082	CCDS14370.1	X																																																																																			USP51	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	G	NM_201286		55513291	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	silent	SNP	0.997	C	C	55513291	G	C	55513291	2	2	54	1	0	0	0	0	0	0	0	1	17114	929	33	1		1	USP51	23	55513291	Silent	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	557545	55513291	99757269	315	7342										
LAS1L	81887	genome.wustl.edu	37	chrX	64752491	64752491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ggcaaactttgtcttcctctCtgagataagattcacaaacc	6	11	3	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:64752491C>T	ENST00000374811.3	-	3	422	c.382G>A	c.(382-384)Gag>Aag	p.E128K	LAS1L_ENST00000374804.5_Missense_Mutation_p.E86K|LAS1L_ENST00000312391.8_Missense_Mutation_p.E128K|LAS1L_ENST00000374807.5_Missense_Mutation_p.E128K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	128					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTCTTCCTCTCTGAGATAAGA	0.468																																																	0													112	85	94					X																	64752491		2203	4300	6503	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.382G>A	X.37:g.64752491C>T	ENSP00000363944:p.Glu128Lys		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.E128K	ENST00000374811.3	37	c.382	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528041	0.85706	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.8	5.8	0.92144	.	0.049476	0.85682	D	0.000000	T	0.80944	0.4721	M	0.82823	2.61	0.58432	D	0.999993	D;D;P	0.89917	0.999;1.0;0.949	D;D;D	0.87578	0.996;0.998;0.913	T	0.83007	-0.0174	9	0.59425	D	0.04	.	16.1808	0.81898	0.0:1.0:0.0:0.0	.	86;128;128	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	K	128;128;86;128	.	ENSP00000308649:E128K	E	-	1	0	LAS1L	64669216	0.996000	0.38824	0.946000	0.38457	0.940000	0.58332	4.362000	0.59467	2.424000	0.82194	0.600000	0.82982	GAG	LAS1L	-	pfam_Las1		0.468	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64752491	-1	no_errors	ENST00000374811	ensembl	human	known	70_37	missense	SNP	0.986	T	T	64752491	C	T	64752491	3	4	54	1	0	0	0	0	1	0	0	0	8656	922	32	1	1870	1	LAS1L	23	64752491	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	9239200	64752491	90518069	316	7343										
AR	367	genome.wustl.edu	37	chrX	66766450	66766450	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	acggctacactcggccccctCaggggctggcgggccaggaa	15	15	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:66766450C>T	ENST00000374690.3	+	1	1986	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	AR_ENST00000396044.3_Nonsense_Mutation_p.Q488*|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Nonsense_Mutation_p.Q488*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	487	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TCGGCCCCCTCAGGGGCTGGC	0.741									Androgen Insensitivity Syndrome																																								0			GRCh37	CM015295	AR	M							16	13	14					X																	66766450		2172	4231	6403	SO:0001587	stop_gained	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1462C>T	X.37:g.66766450C>T	ENSP00000363822:p.Gln488*		A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q488*	ENST00000374690.3	37	c.1462	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	43	9.889457	0.99289	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	.	.	.	5.06	5.06	0.68205	.	0.526840	0.19041	N	0.124299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.701	0.69157	0.0:1.0:0.0:0.0	.	.	.	.	X	298;488;488;488;480	.	ENSP00000363822:Q488X	Q	+	1	0	AR	66683175	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.660000	0.61511	2.349000	0.79799	0.509000	0.49947	CAG	AR	-	NULL		0.741	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66766450	1	no_errors	ENST00000374690	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	66766450	C	T	66766450	4	4	54	1	0	0	0	0	0	1	0	0	836	827	29	1	1464	1	AR	23	66766450	Nonsense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2013959	66766450	88504110	317	7344										
AWAT1	158833	genome.wustl.edu	37	chrX	69457007	69457007	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	tgcactgaggccacaggcttCtcgaagaccttcccaggcat	10	14	1	2			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:69457007C>T	ENST00000374521.3	+	4	410	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	123					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCACAGGCTTCTCGAAGACCT	0.562																																																	0													80	56	64					X																	69457007		2203	4300	6503	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.369C>T	X.37:g.69457007C>T			Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.F123	ENST00000374521.3	37	c.369	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT		0.562	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69457007	1	no_errors	ENST00000374521	ensembl	human	known	70_37	silent	SNP	1.000	T	T	69457007	C	T	69457007	2	4	54	1	0	0	0	0	0	0	0	1	1235	912	32	1		1	AWAT1	23	69457007	Silent	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	2690557	69457007	85813553	318	7345										
ZMYM3	9203	genome.wustl.edu	37	chrX	70470478	70470478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	cctttgtgacacacttgagcGtagggacatgcgaggagagc	14	9	0	3			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:70470478G>A	ENST00000353904.2	-	5	1064	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	ZMYM3_ENST00000314425.5_Missense_Mutation_p.R293C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R295C|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R295C|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R293C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R295C|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R293C|ZMYM3_ENST00000373978.1_Intron	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	293					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACACTTGAGCGTAGGGACATG	0.572																																																	0													48	37	41					X																	70470478		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.877C>T	X.37:g.70470478G>A	ENSP00000343909:p.Arg293Cys		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R295C	ENST00000353904.2	37	c.883	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	22.3	4.277328	0.80580	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.54866	1.34;0.8;1.34;1.34;1.39;0.65;0.55	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000010	T	0.60011	0.2236	N	0.24115	0.695	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.988;0.973	T	0.61496	-0.7051	10	0.40728	T	0.16	-12.7935	17.3214	0.87238	0.0:0.0:1.0:0.0	.	295;293;293;293	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	C	293;293;293;295;295;295;293	ENSP00000322845:R293C;ENSP00000363110:R293C;ENSP00000343909:R293C;ENSP00000363096:R295C;ENSP00000363100:R295C;ENSP00000363094:R295C;ENSP00000363093:R293C	ENSP00000322845:R293C	R	-	1	0	ZMYM3	70387203	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.037000	0.64170	2.271000	0.75665	0.529000	0.55759	CGC	ZMYM3	-	NULL		0.572	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70470478	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70470478	G	A	70470478	3	1	54	1	0	0	0	0	1	0	0	0	17731	1145	40	2	3337	2	ZMYM3	23	70470478	Missense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	1013471	70470478	84800082	319	7346										
AMOT	154796	genome.wustl.edu	37	chrX	112066006	112066006	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	ctgttggccccgaaagtactGggactggaccttggcttctt	12	11	1	0			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:112066006G>A	ENST00000524145.1	-	2	423	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	AMOT_ENST00000371962.1_5'Flank|AMOT_ENST00000371958.1_5'Flank|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000371959.3_Nonsense_Mutation_p.Q117*|AMOT_ENST00000462114.1_5'Flank			Q4VCS5	AMOT_HUMAN	angiomotin	117					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGAAAGTACTGGGACTGGACC	0.507																																																	0													61	41	47					X																	112066006		692	1591	2283	SO:0001587	stop_gained	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.349C>T	X.37:g.112066006G>A	ENSP00000429013:p.Gln117*		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.Q117*	ENST00000524145.1	37	c.349	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.291072	0.95546	.	.	ENSG00000126016	ENST00000371959;ENST00000524145	.	.	.	5.92	5.92	0.95590	.	0.117135	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.1896	18.1369	0.89622	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	.	Q	-	1	0	AMOT	111952662	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.506000	0.84524	0.600000	0.82982	CAG	AMOT	-	NULL		0.507	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112066006	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	112066006	G	A	112066006	4	1	54	1	0	0	0	0	0	1	0	0	582	1357	47	4	2949	4	AMOT	23	112066006	Nonsense_Mutation	SNP	G	TCGA-DG-A2KK-01A-11D-A17W-09	41595528	112066006	43204554	320	7347										
CD99L2	83692	genome.wustl.edu	37	chrX	149999752	149999752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.562893081761006	179	1.7924082367635e-72	4.3550264626775	5.8041067761807	3.56748281403446	0.304085990012079	0.561835067260413	138	atcctccaggttaaaatcatCaaagtccccagatcctaaaa	4	12	2	1			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:149999752C>G	ENST00000370377.3	-	2	199	c.82G>C	c.(82-84)Gat>Cat	p.D28H	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.D28H|CD99L2_ENST00000437787.2_Missense_Mutation_p.D28H|CD99L2_ENST00000355149.3_Missense_Mutation_p.D28H|CD99L2_ENST00000320893.6_Missense_Mutation_p.D28H	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	28					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAAATCATCAAAGTCCCCA	0.289																																																	0													81	77	78					X																	149999752		2203	4300	6503	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.82G>C	X.37:g.149999752C>G	ENSP00000359403:p.Asp28His		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	pfam_CD99L2	p.D28H	ENST00000370377.3	37	c.82	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	C	9.236	1.037093	0.19669	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436;ENST00000320893	T	0.30981	1.51	4.28	0.113	0.14631	.	0.870138	0.09917	N	0.738937	T	0.30510	0.0767	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.28850	0.225;0.06;0.06;0.119	B;B;B;B	0.42959	0.403;0.134;0.134;0.102	T	0.47873	-0.9083	9	.	.	.	-1.8008	2.9646	0.05903	0.2334:0.3569:0.0:0.4098	.	28;28;28;28	E9PD27;Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;.;C99L2_HUMAN	H	28	ENSP00000394858:D28H	.	D	-	1	0	CD99L2	149750410	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	0.023000	0.13533	-0.015000	0.14150	-0.190000	0.12839	GAT	CD99L2	-	NULL		0.289	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	C	NM_031462		149999752	-1	no_errors	ENST00000370377	ensembl	human	known	70_37	missense	SNP	0.000	G	G	149999752	C	G	149999752	3	3	54	1	0	0	0	0	1	0	0	0	3056	826	29	1	746	1	CD99L2	23	149999752	Missense_Mutation	SNP	C	TCGA-DG-A2KK-01A-11D-A17W-09	37933746	149999752	5270808	321	7348										
ACAP3	116983	genome.wustl.edu	37	chr1	1231134	1231134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acctgaggacagagcggccaCacagggcagaacgggctcaa	14	12	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:1231134C>G	ENST00000354700.5	-	18	1889	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	ACAP3_ENST00000353662.3_Missense_Mutation_p.V521L|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	563					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGCGGCCACACAGGGCAGA	0.711																																																	0													15	19	18					1																	1231134		2187	4286	6473	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1687G>C	1.37:g.1231134C>G	ENSP00000346733:p.Val563Leu		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.V521L	ENST00000354700.5	37	c.1561	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	C	1.466	-0.561051	0.03939	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.26067	1.76;1.86	4.64	0.179	0.15063	.	1.766790	0.03361	N	0.197587	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18618	-1.0331	10	0.15952	T	0.53	.	4.4378	0.11559	0.102:0.4063:0.3458:0.1458	.	563;521	Q96P50;Q96P50-1	ACAP3_HUMAN;.	L	563;521	ENSP00000346733:V563L;ENSP00000321139:V521L	ENSP00000321139:V521L	V	-	1	0	ACAP3	1220997	0.001000	0.12720	0.058000	0.19502	0.017000	0.09413	-0.246000	0.08878	0.044000	0.15775	0.430000	0.28490	GTG	ACAP3	-	NULL		0.711	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	C	NM_030649		1231134	-1	no_errors	ENST00000353662	ensembl	human	known	70_37	missense	SNP	0.016	G	G	1231134	C	G	1231134	3	3	55	1	0	0	0	0	1	0	0	0	120	478	17	4	845	4	ACAP3	1	1231134	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		1231134	248019487	1	7349										
MRPL20	55052	genome.wustl.edu	37	chr1	1337574	1337574	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gccaaggcagccaaagatttGaaagtctttggctcgtagat	11	8	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:1337574G>A	ENST00000344843.7	-	4	434	c.339C>T	c.(337-339)ttC>ttT	p.F113F	MRPL20_ENST00000493287.1_5'UTR|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	113					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAAAGATTTGAAAGTCTTTG	0.512																																																	0													99	93	95					1																	1337574		2203	4296	6499	SO:0001819	synonymous_variant	55052			AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"Mitochondrial ribosomal proteins / large subunits"	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.339C>T	1.37:g.1337574G>A			B2RE41|B7Z746	Silent	SNP	pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20	p.F113	ENST00000344843.7	37	c.339	CCDS26.1	1																																																																																			MRPL20	-	pfam_Ribosomal_L20,tigrfam_Ribosomal_L20		0.512	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL20	HGNC	protein_coding	OTTHUMT00000008139.1	G	NM_017971		1337574	-1	no_errors	ENST00000344843	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1337574	G	A	1337574	2	1	55	1	0	0	0	0	0	0	0	1	9809	1281	45	1		1	MRPL20	1	1337574	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	106440	1337574	247913047	2	7350										
CASZ1	54897	genome.wustl.edu	37	chr1	10699179	10699179	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcgtcgtcctcgtcgtcgtcGtcctcgtcgtcgtcctcgtc	10	17	0	0	rs546647724	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:10699179G>C	ENST00000377022.3	-	21	5417	c.5100C>G	c.(5098-5100)gaC>gaG	p.D1700E	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1700	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		cgtcgtcgtcgtcctcgtcgt	0.731													G|||	2	0.000399361	0	0	5008	,	,		2136	0.001		0	False		,,,				2504	0.001																0													6	6	6					1																	10699179		1794	3630	5424	SO:0001583	missense	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.5100C>G	1.37:g.10699179G>C	ENSP00000366221:p.Asp1700Glu		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1700E	ENST00000377022.3	37	c.5100	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038460	0.19669	.	.	ENSG00000130940	ENST00000377022	T	0.11821	2.74	2.95	0.683	0.17998	.	0.133650	0.24470	U	0.038254	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35400	-0.9790	10	0.11485	T	0.65	-10.7492	3.1678	0.06541	0.2914:0.0:0.3955:0.3131	.	1700	Q86V15	CASZ1_HUMAN	E	1700	ENSP00000366221:D1700E	ENSP00000366221:D1700E	D	-	3	2	CASZ1	10621766	0.934000	0.31675	0.912000	0.35992	0.455000	0.32408	-0.094000	0.11094	0.336000	0.23639	0.195000	0.17529	GAC	CASZ1	-	NULL		0.731	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10699179	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	missense	SNP	0.941	C	C	10699179	G	C	10699179	3	2	55	1	0	0	0	0	1	0	0	0	2690	1136	40	2	183	2	CASZ1	1	10699179	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	9361605	10699179	238551442	3	7351										
MTOR	2475	genome.wustl.edu	37	chr1	11182063	11182063	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atgatgcgatgctcgatgttGagaaggatcttcttcttctc	10	8	4	2	rs55951261	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:11182063G>C	ENST00000361445.4	-	48	6859	c.6783C>G	c.(6781-6783)ctC>ctG	p.L2261L	MTOR_ENST00000376838.1_Silent_p.L466L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2261	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCTCGATGTTGAGAAGGATCT	0.562																																																	0													144	121	129					1																	11182063		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6783C>G	1.37:g.11182063G>C			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2261	ENST00000361445.4	37	c.6783	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.562	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11182063	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	C	C	11182063	G	C	11182063	2	2	55	1	0	0	0	0	0	0	0	1	9977	1277	45	1		1	MTOR	1	11182063	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	482884	11182063	238068558	4	7352										
SPEN	23013	genome.wustl.edu	37	chr1	16258354	16258354	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gaattgaagatggaggcagaGaagattacaaggactgcttc	13	5	0	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:16258354G>A	ENST00000375759.3	+	11	5823	c.5619G>A	c.(5617-5619)gaG>gaA	p.E1873E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1873					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAGGCAGAGAAGATTACAA	0.498																																																	0													72	78	76					1																	16258354		2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5619G>A	1.37:g.16258354G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1873	ENST00000375759.3	37	c.5619	CCDS164.1	1																																																																																			SPEN	-	NULL		0.498	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16258354	1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.984	A	A	16258354	G	A	16258354	2	1	55	1	0	0	0	0	0	0	0	1	15068	933	33	1		1	SPEN	1	16258354	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5076291	16258354	232992267	5	7353										
SPEN	23013	genome.wustl.edu	37	chr1	16258747	16258747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaaaagggaaaaaatgaaccGaaggtggatgctacacgtcc	11	7	0	1	rs146430628		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:16258747G>A	ENST00000375759.3	+	11	6216	c.6012G>A	c.(6010-6012)ccG>ccA	p.P2004P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2004					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P2004P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAATGAACCGAAGGTGGATG	0.577																																																	1	Substitution - coding silent(1)	lung(1)						G		0,4406		0,0,2203	34	34	34		6012	-9.8	0	1	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPEN	NM_015001.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2004/3665	16258747	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6012G>A	1.37:g.16258747G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2004	ENST00000375759.3	37	c.6012	CCDS164.1	1																																																																																			SPEN	-	NULL		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16258747	1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.000	A	A	16258747	G	A	16258747	2	1	55	1	0	0	0	0	0	0	0	1	15068	1045	37	1		1	SPEN	1	16258747	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	393	16258747	232991874	6	7354										
FAM43B	163933	genome.wustl.edu	37	chr1	20879728	20879728	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcaccctgcacgccaagggcGacggctgcaccgacgacgcc	12	18	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:20879728G>C	ENST00000332947.4	+	1	797	c.262G>C	c.(262-264)Gac>Cac	p.D88H		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	88										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CGCCAAGGGCGACGGCTGCAC	0.677																																																	0													33	31	31					1																	20879728		2198	4297	6495	SO:0001583	missense	163933			AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.262G>C	1.37:g.20879728G>C	ENSP00000331397:p.Asp88His		A5PKT8|A5PL01	Missense_Mutation	SNP	smart_PTyr_interaction_dom	p.D88H	ENST00000332947.4	37	c.262	CCDS209.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208812	0.79240	.	.	ENSG00000183114	ENST00000332947	.	.	.	3.89	3.89	0.44902	Pleckstrin homology-type (1);	0.408112	0.23476	U	0.047779	T	0.61540	0.2355	L	0.38175	1.15	0.48288	D	0.999625	D	0.61697	0.99	P	0.59221	0.854	T	0.62234	-0.6897	9	0.44086	T	0.13	-18.7567	13.3241	0.60449	0.0:0.0:1.0:0.0	.	88	Q6ZT52	FA43B_HUMAN	H	88	.	ENSP00000331397:D88H	D	+	1	0	FAM43B	20752315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.844000	0.75390	1.727000	0.51537	0.455000	0.32223	GAC	FAM43B	-	smart_PTyr_interaction_dom		0.677	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM43B	HGNC	protein_coding	OTTHUMT00000127759.1	G	NM_207334		20879728	1	no_errors	ENST00000332947	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20879728	G	C	20879728	3	2	55	1	0	0	0	0	1	0	0	0	5581	1058	37	1	264	1	FAM43B	1	20879728	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	4620981	20879728	228370893	7	7355										
DPYD	1806	genome.wustl.edu	37	chr1	97658667	97658667	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cgtggaactggtttccctttCtggtgactcacagtagctgg	12	10	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:97658667C>T	ENST00000370192.3	-	20	2680	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	860					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTTTCCCTTTCTGGTGACTCA	0.448																																																	0													194	166	176					1																	97658667		2203	4300	6503	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2580G>A	1.37:g.97658667C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.Q860	ENST00000370192.3	37	c.2580	CCDS30777.1	1																																																																																			DPYD	-	NULL		0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	C	NM_000110		97658667	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	silent	SNP	1.000	T	T	97658667	C	T	97658667	2	4	55	1	0	0	0	0	0	0	0	1	4755	912	32	1		1	DPYD	1	97658667	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	76778939	97658667	151591954	8	7356										
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150525459	150525459	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	accttgggtccagtgggcctCttgctcccagccctgcgggg	14	15	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:150525459C>T	ENST00000369038.2	+	3	365	c.164C>T	c.(163-165)tCt>tTt	p.S55F	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S55F|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S55F|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S55F			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	55	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGTGGGCCTCTTGCTCCCAG	0.647																																																	0													30	36	34					1																	150525459		2197	4296	6493	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.164C>T	1.37:g.150525459C>T	ENSP00000358034:p.Ser55Phe		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.S55F	ENST00000369038.2	37	c.164	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037036	0.54896	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	4.63	3.7	0.42460	.	.	.	.	.	T	0.46698	0.1406	M	0.78456	2.415	0.30110	N	0.806648	P;P;P;P	0.38335	0.627;0.573;0.627;0.573	B;P;B;P	0.45167	0.422;0.472;0.394;0.472	T	0.50311	-0.8843	9	0.87932	D	0	.	9.0301	0.36254	0.0:0.8919:0.0:0.1081	.	55;55;55;55	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	F	55	ENSP00000358037:S55F;ENSP00000271643:S55F;ENSP00000358035:S55F;ENSP00000358034:S55F	ENSP00000271643:S55F	S	+	2	0	ADAMTSL4	148792083	0.023000	0.18921	1.000000	0.80357	0.977000	0.68977	1.542000	0.36137	2.115000	0.64714	0.561000	0.74099	TCT	ADAMTSL4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	C	NM_019032		150525459	1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.997	T	T	150525459	C	T	150525459	3	4	55	1	0	0	0	0	1	0	0	0	277	913	32	1	174	1	ADAMTSL4	1	150525459	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	52866792	150525459	98725162	9	7357										
CTSS	1520	genome.wustl.edu	37	chr1	150737223	150737223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aggagcacaccaagagcacaCaaaccagccgtttcattctg	8	13	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:150737223C>A	ENST00000368985.3	-	2	277	c.17G>T	c.(16-18)tGt>tTt	p.C6F	CTSS_ENST00000480760.1_5'Flank|CTSS_ENST00000448301.2_Missense_Mutation_p.C6F	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	6					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGAGCACACAAACCAGCCG	0.428																																																	0													165	146	152					1																	150737223		2203	4300	6503	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.17G>T	1.37:g.150737223C>A	ENSP00000357981:p.Cys6Phe		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.C6F	ENST00000368985.3	37	c.17	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347563	0.24426	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.81821	-1.54;-1.08	4.87	1.96	0.26148	.	3.044380	0.00575	N	0.000319	T	0.32406	0.0828	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30179	-0.9987	10	0.30854	T	0.27	.	4.1752	0.10348	0.3201:0.5146:0.0:0.1653	.	6;6	B4DWC9;P25774	.;CATS_HUMAN	F	6	ENSP00000408414:C6F;ENSP00000357981:C6F	ENSP00000357981:C6F	C	-	2	0	CTSS	149003847	0.001000	0.12720	0.000000	0.03702	0.072000	0.16883	0.702000	0.25631	0.339000	0.23719	0.561000	0.74099	TGT	CTSS	-	NULL		0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	C	NM_004079		150737223	-1	no_errors	ENST00000368985	ensembl	human	known	70_37	missense	SNP	0.000	A	A	150737223	C	A	150737223	3	1	55	1	0	0	0	0	1	0	0	0	4046	478	17	4	1006	4	CTSS	1	150737223	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	211764	150737223	98513398	10	7358										
FAM129A	116496	genome.wustl.edu	37	chr1	184765013	184765013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggccaacgagctagggacctCaggctgcttctcttcctctg	11	14	3	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:184765013C>T	ENST00000367511.3	-	14	2078	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	629					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTAGGGACCTCAGGCTGCTTC	0.552																																																	0													70	72	71					1																	184765013		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1885G>A	1.37:g.184765013C>T	ENSP00000356481:p.Glu629Lys		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.E629K	ENST00000367511.3	37	c.1885	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805301	0.50315	.	.	ENSG00000135842	ENST00000367511	T	0.11821	2.74	5.56	4.65	0.58169	.	0.972058	0.08439	N	0.945707	T	0.08179	0.0204	N	0.24115	0.695	0.09310	N	1	P	0.38078	0.617	B	0.27170	0.077	T	0.06023	-1.0850	10	0.07030	T	0.85	-4.042	12.5757	0.56362	0.0:0.9231:0.0:0.0769	.	629	Q9BZQ8	NIBAN_HUMAN	K	629	ENSP00000356481:E629K	ENSP00000356481:E629K	E	-	1	0	FAM129A	183031636	0.046000	0.20272	0.006000	0.13384	0.086000	0.17979	2.792000	0.47837	1.351000	0.45789	0.561000	0.74099	GAG	FAM129A	-	NULL		0.552	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	C			184765013	-1	no_errors	ENST00000367511	ensembl	human	known	70_37	missense	SNP	0.020	T	T	184765013	C	T	184765013	3	4	55	1	0	0	0	0	1	0	0	0	5451	835	29	1	905	1	FAM129A	1	184765013	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	34027790	184765013	64485608	11	7359										
CR1	1378	genome.wustl.edu	37	chr1	207697066	207697066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	accgctgcaatcctggaagcGgagggagaaaggtgtttgag	16	7	0	2	rs533647702		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:207697066G>A	ENST00000367049.4	+	5	598	c.598G>A	c.(598-600)Gga>Aga	p.G200R	CR1_ENST00000367052.1_Missense_Mutation_p.G200R|CR1_ENST00000367053.1_Missense_Mutation_p.G200R|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.G200R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	200	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCTGGAAGCGGAGGGAGAAA	0.542																																																	0													24	20	21					1																	207697066		1775	4031	5806	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.598G>A	1.37:g.207697066G>A	ENSP00000356016:p.Gly200Arg		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G200R	ENST00000367049.4	37	c.598	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	1.989	-0.432141	0.04669	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.16	-1.96	0.07525	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.05318	0.0141	N	0.01015	-1.05	0.09310	N	1	B;B;B;B;B	0.13145	0.0;0.007;0.0;0.001;0.001	B;B;B;B;B	0.16722	0.0;0.016;0.002;0.001;0.001	T	0.40308	-0.9570	9	0.22109	T	0.4	.	3.9452	0.09346	0.4049:0.3747:0.2204:0.0	.	650;200;175;200;200	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	R	200	ENSP00000356019:G200R;ENSP00000356020:G200R;ENSP00000383744:G200R;ENSP00000436139:G200R;ENSP00000356016:G200R	ENSP00000356016:G200R	G	+	1	0	CR1	205763689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.763000	0.26517	-0.039000	0.13602	-0.687000	0.03738	GGA	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	G	NM_000573		207697066	1	no_errors	ENST00000367049	ensembl	human	known	70_37	missense	SNP	0.000	A	A	207697066	G	A	207697066	3	1	55	1	0	0	0	0	1	0	0	0	3845	1117	39	2	616	2	CR1	1	207697066	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	22932053	207697066	41553555	12	7360										
EPRS	2058	genome.wustl.edu	37	chr1	220152022	220152022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cagcgcttctttgtcttcttCagaaagtgcattggtaatgc	9	9	4	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:220152022C>G	ENST00000366923.3	-	28	4218	c.3949G>C	c.(3949-3951)Gaa>Caa	p.E1317Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1317	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGTCTTCTTCAGAAAGTGCA	0.383																																																	0													123	118	120					1																	220152022		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3949G>C	1.37:g.220152022C>G	ENSP00000355890:p.Glu1317Gln		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.E1317Q	ENST00000366923.3	37	c.3949	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.587746	0.96590	.	.	ENSG00000136628	ENST00000366923	T	0.07688	3.17	5.81	5.81	0.92471	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.61036	1.89	0.80722	D	1	B	0.34255	0.445	B	0.36092	0.217	T	0.00804	-1.1559	10	0.56958	D	0.05	-26.6337	20.0628	0.97684	0.0:1.0:0.0:0.0	.	1317	P07814	SYEP_HUMAN	Q	1317	ENSP00000355890:E1317Q	ENSP00000355890:E1317Q	E	-	1	0	EPRS	218218645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.745000	0.94114	0.655000	0.94253	GAA	EPRS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type		0.383	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	C	NM_004446		220152022	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	G	G	220152022	C	G	220152022	3	3	55	1	0	0	0	0	1	0	0	0	5203	835	29	1	609	1	EPRS	1	220152022	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	12454956	220152022	29098599	13	7361										
MARK1	4139	genome.wustl.edu	37	chr1	220826469	220826469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccagagagtgcctgctgcttCcccatctgctcacagtatta	8	14	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:220826469C>T	ENST00000366917.4	+	16	2029	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	MARK1_ENST00000402574.1_Missense_Mutation_p.S453F|MARK1_ENST00000366918.4_Missense_Mutation_p.S566F					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CCTGCTGCTTCCCCATCTGCT	0.478																																																	0													81	68	72					1																	220826469		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1763C>T	1.37:g.220826469C>T	ENSP00000355884:p.Ser588Phe			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S588F	ENST00000366917.4	37	c.1763	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009594	0.93346	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.74526	-0.77;-0.57;-0.85	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.83223	2.63	0.80722	D	1	D;B;B;D	0.62365	0.966;0.037;0.011;0.991	P;B;B;D	0.65684	0.781;0.046;0.004;0.937	D	0.87651	0.2528	10	0.48119	T	0.1	.	17.8463	0.88731	0.0:1.0:0.0:0.0	.	588;453;588;566	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	F	453;566;588	ENSP00000386017:S453F;ENSP00000355885:S566F;ENSP00000355884:S588F	ENSP00000355884:S588F	S	+	2	0	MARK1	218893092	1.000000	0.71417	0.598000	0.28837	0.997000	0.91878	7.372000	0.79612	2.267000	0.75376	0.462000	0.41574	TCC	MARK1	-	NULL		0.478	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	C			220826469	1	no_errors	ENST00000366917	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220826469	C	T	220826469	3	4	55	1	0	0	0	0	1	0	0	0	9335	855	30	1	1825	1	MARK1	1	220826469	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	674447	220826469	28424152	14	7362										
GNPAT	8443	genome.wustl.edu	37	chr1	231396396	231396396	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtatttaaacaaattttctcGaaggtgtgtgtaaatgaaga	9	3	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:231396396G>A	ENST00000366647.4	+	3	574	c.405G>A	c.(403-405)tcG>tcA	p.S135S	GNPAT_ENST00000366646.3_Silent_p.S74S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	135					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AAATTTTCTCGAAGGTGTGTG	0.308																																																	0													160	167	164					1																	231396396		2203	4300	6503	SO:0001819	synonymous_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.405G>A	1.37:g.231396396G>A			B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S135	ENST00000366647.4	37	c.405	CCDS1592.1	1																																																																																			GNPAT	-	NULL		0.308	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	G			231396396	1	no_errors	ENST00000366647	ensembl	human	known	70_37	silent	SNP	0.296	A	A	231396396	G	A	231396396	2	1	55	1	0	0	0	0	0	0	0	1	6560	1045	37	1		1	GNPAT	1	231396396	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	10569927	231396396	17854225	15	7363										
AHCTF1	25909	genome.wustl.edu	37	chr1	247061639	247061639	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttctttaaaaaagtcaaagtCtgtaacagataaattagtaa	5	4	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:247061639C>T	ENST00000391829.2	-	12	1618		c.e12-1		AHCTF1_ENST00000470300.1_Splice_Site|AHCTF1_ENST00000366508.1_Splice_Site|AHCTF1_ENST00000326225.3_Splice_Site			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAGTCAAAGTCTGTAACAGAT	0.289																																					Colon(145;197 1800 4745 15099 26333)												0													78	81	80					1																	247061639		2203	4300	6503	SO:0001630	splice_region_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1495-1G>A	1.37:g.247061639C>T			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Splice_Site	SNP	-	e12-1	ENST00000391829.2	37	c.1522-1		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051216	0.75960	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3616	0.94442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHCTF1	245128262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.190000	0.72057	2.568000	0.86640	0.650000	0.86243	.	AHCTF1	-	-		0.289	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446	Intron	247061639	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	247061639	C	T	247061639	5	4	55	1	0	0	0	0	0	0	1	0	408	927	32	1	5406	1	AHCTF1	1	247061639	Splice_Site	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	15665243	247061639	2188982	16	7364										
OR2L3	391192	genome.wustl.edu	37	chr1	248224124	248224124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aacctatccatgattcttctCatcttcttggacacccatct	3	14	5	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:248224124C>T	ENST00000359959.3	+	1	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATTCTTCTCATCTTCTTGG	0.413																																																	0													295	285	288					1																	248224124		2203	4297	6500	SO:0001819	synonymous_variant	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.141C>T	1.37:g.248224124C>T			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L47	ENST00000359959.3	37	c.141	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	C	NM_001004687		248224124	1	no_errors	ENST00000359959	ensembl	human	known	70_37	silent	SNP	0.003	T	T	248224124	C	T	248224124	2	4	55	1	0	0	0	0	0	0	0	1	11032	813	29	1		1	OR2L3	1	248224124	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1162485	248224124	1026497	17	7365										
MSH2	4436	genome.wustl.edu	37	chr2	47703697	47703697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tggctgaaatgttggaaactGcttctatcctcaggtaagtg	11	7	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:47703697G>A	ENST00000233146.2	+	13	2420	c.2197G>A	c.(2197-2199)Gct>Act	p.A733T	MSH2_ENST00000543555.1_Missense_Mutation_p.A667T|MSH2_ENST00000406134.1_Missense_Mutation_p.A733T	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	733					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGGAAACTGCTTCTATCCT	0.443			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)											139	125	130					2																	47703697		2203	4300	6503	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2197G>A	2.37:g.47703697G>A	ENSP00000233146:p.Ala733Thr		B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.A733T	ENST00000233146.2	37	c.2197	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433187	0.83776	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.87809	-2.3;-2.3;-2.3	6.17	5.28	0.74379	DNA mismatch repair protein MutS, C-terminal (2);	0.045357	0.85682	D	0.000000	D	0.94032	0.8088	M	0.88450	2.955	0.80722	D	1	D;D;D	0.65815	0.99;0.995;0.985	D;D;D	0.67900	0.917;0.94;0.954	D	0.94999	0.8141	10	0.87932	D	0	-16.6639	15.1801	0.72947	0.0:0.0:0.7434:0.2566	.	667;733;733	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	T	733;667;733;733;519	ENSP00000233146:A733T;ENSP00000442697:A667T;ENSP00000384199:A733T	ENSP00000233146:A733T	A	+	1	0	MSH2	47557201	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.300000	0.72776	1.583000	0.49898	0.655000	0.94253	GCT	MSH2	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2		0.443	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	G			47703697	1	no_errors	ENST00000233146	ensembl	human	known	70_37	missense	SNP	0.998	A	A	47703697	G	A	47703697	3	1	55	1	0	0	0	0	1	0	0	0	9893	1319	46	4	2247	4	MSH2	2	47703697	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		47703697	195495676	18	7366										
SEMA4F	10505	genome.wustl.edu	37	chr2	74902683	74902683	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctccaccgagcagtgcggatCggagctcagctcagcgttct	12	14	3	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:74902683C>T	ENST00000357877.2	+	11	1553	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Silent_p.I313I	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	468	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CAGTGCGGATCGGAGCTCAGC	0.493																																																	0													124	116	119					2																	74902683		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1404C>T	2.37:g.74902683C>T			Q542Y7|Q9NS35	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.I468	ENST00000357877.2	37	c.1404	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.493	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902683	1	no_errors	ENST00000357877	ensembl	human	known	70_37	silent	SNP	0.011	T	T	74902683	C	T	74902683	2	4	55	1	0	0	0	0	0	0	0	1	14065	874	31	1		1	SEMA4F	2	74902683	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	27198986	74902683	168296690	19	7367										
FAM134A	79137	genome.wustl.edu	37	chr2	220046965	220046965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acacgcacttcaatggggcaGggtcccccccagatggagtg	13	13	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:220046965G>T	ENST00000430297.2	+	9	1382	c.1246G>T	c.(1246-1248)Ggg>Tgg	p.G416W		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	416						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAATGGGGCAGGGTCCCCCCC	0.607																																																	0													115	123	120					2																	220046965		2203	4300	6503	SO:0001583	missense	79137			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1246G>T	2.37:g.220046965G>T	ENSP00000395249:p.Gly416Trp		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.G416W	ENST00000430297.2	37	c.1246	CCDS2434.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.02|18.02	3.529293|3.529293	0.64860|0.64860	.|.	.|.	ENSG00000144567|ENSG00000144567	ENST00000430297;ENST00000443518|ENST00000420189	T|.	0.39997|.	1.05|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.058685|.	0.64402|.	D|.	0.000002|.	T|T	0.76891|0.76891	0.4051|0.4051	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.75909|0.75909	-0.3151|-0.3151	9|5	.|.	.|.	.|.	-19.3118|-19.3118	19.0611|19.0611	0.93093|0.93093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	209;416|.	E7EUL4;Q8NC44|.	.;F134A_HUMAN|.	W|M	416;209|110	ENSP00000395249:G416W|.	.|.	G|R	+|+	1|2	0|0	FAM134A|FAM134A	219755209|219755209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	8.454000|8.454000	0.90352|0.90352	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGG|AGG	FAM134A	-	NULL		0.607	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	G	NM_024293		220046965	1	no_errors	ENST00000430297	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220046965	G	T	220046965	3	4	55	1	0	0	0	0	1	0	0	0	5460	1000	35	4	1280	4	FAM134A	2	220046965	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	145144282	220046965	23152408	20	7368										
AGAP1	116987	genome.wustl.edu	37	chr2	236649682	236649682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cagagatgaagggggcccccCggaggcgcaggtgagtatac	17	10	0	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:236649682C>T	ENST00000304032.8	+	4	966	c.386C>T	c.(385-387)cCg>cTg	p.P129L	AGAP1_ENST00000336665.5_Missense_Mutation_p.P129L|AGAP1_ENST00000409457.1_Missense_Mutation_p.P129L|AGAP1_ENST00000409538.1_Missense_Mutation_p.P394L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	129	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.P129L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGGGGCCCCCCGGAGGCGCAG	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											72	73	73					2																	236649682		2203	4300	6503	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.386C>T	2.37:g.236649682C>T	ENSP00000307634:p.Pro129Leu		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.P129L	ENST00000304032.8	37	c.386	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.064353	0.93898	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86544	0.1830	10	0.87932	D	0	.	18.2419	0.89970	0.0:1.0:0.0:0.0	.	129;129	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	129;129;129;76;394	ENSP00000387174:P129L;ENSP00000307634:P129L;ENSP00000338378:P129L;ENSP00000385492:P76L;ENSP00000386897:P394L	ENSP00000307634:P129L	P	+	2	0	AGAP1	236314421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.678000	0.84035	2.357000	0.79964	0.561000	0.74099	CCG	AGAP1	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase		0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	C	NM_014914		236649682	1	no_errors	ENST00000304032	ensembl	human	known	70_37	missense	SNP	1.000	T	T	236649682	C	T	236649682	3	4	55	1	0	0	0	0	1	0	0	0	366	652	23	2	400	2	AGAP1	2	236649682	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	16602717	236649682	6549691	21	7369										
SETMAR	6419	genome.wustl.edu	37	chr3	4358681	4358681	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	caacccacacttcaaaagttGaatgaattgggctatgaagt	8	8	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:4358681G>C	ENST00000358065.4	+	3	1873	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.L463F	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	602	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ttcaaaagttgaatgaattgg	0.483								Chromatin Structure																																									0													31	36	34					3																	4358681		1591	2784	4375	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1806G>C	3.37:g.4358681G>C	ENSP00000373354:p.Leu602Phe		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.L602F	ENST00000358065.4	37	c.1806	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399102	0.42512	.	.	ENSG00000170364	ENST00000358065;ENST00000425863	T;T	0.78003	-1.14;-1.14	0.235	0.235	0.15431	.	0.000000	0.51477	U	0.000090	T	0.76863	0.4047	M	0.69185	2.1	0.23572	N	0.997382	B;P;P;B	0.44006	0.338;0.796;0.824;0.293	B;B;P;B	0.48704	0.132;0.431;0.587;0.097	T	0.68465	-0.5401	9	0.62326	D	0.03	.	.	.	.	.	346;463;589;347	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	F	602;463	ENSP00000373354:L602F;ENSP00000403145:L463F	ENSP00000373354:L602F	L	+	3	2	SETMAR	4333681	0.917000	0.31117	0.938000	0.37757	0.938000	0.57974	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	TTG	SETMAR	-	NULL		0.483	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4358681	1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.954	C	C	4358681	G	C	4358681	3	2	55	1	0	0	0	0	1	0	0	0	14170	1281	45	1	1816	1	SETMAR	3	4358681	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		4358681	193663749	22	7370										
USP19	10869	genome.wustl.edu	37	chr3	49154041	49154041	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gttcaccatcgactcgggctCtatattgagaccatggctca	9	12	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:49154041C>G	ENST00000398888.2	-	7	1142		c.e7-1		USP19_ENST00000453664.1_Splice_Site|USP19_ENST00000417901.1_Splice_Site|USP19_ENST00000398892.3_Splice_Site|USP19_ENST00000434032.2_Splice_Site|USP19_ENST00000398898.2_Splice_Site|USP19_ENST00000398896.1_Splice_Site|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTCGGGCTCTATATTGAGA	0.532																																																	0													76	76	76					3																	49154041		2055	4192	6247	SO:0001630	splice_region_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.824-1G>C	3.37:g.49154041C>G			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Splice_Site	SNP	-	e6-1	ENST00000398888.2	37	c.824-1	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728027	0.30593	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP19	49129045	1.000000	0.71417	0.989000	0.46669	0.223000	0.24884	4.838000	0.62803	2.941000	0.99782	0.655000	0.94253	.	USP19	-	-		0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677	Intron	49154041	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	49154041	C	G	49154041	5	3	55	1	0	0	0	0	0	0	1	0	17081	927	32	1	3213	1	USP19	3	49154041	Splice_Site	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	44795360	49154041	148868389	23	7371										
IL17RD	54756	genome.wustl.edu	37	chr3	57139966	57139966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaacggaagccgaagttgtgCggtgcatggtcgaaggacac	15	8	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:57139966C>T	ENST00000296318.7	-	7	754	c.666G>A	c.(664-666)ccG>ccA	p.P222P	IL17RD_ENST00000320057.5_Silent_p.P78P|IL17RD_ENST00000463523.1_Silent_p.P78P|IL17RD_ENST00000427856.2_Silent_p.P198P	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	222					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGAAGTTGTGCGGTGCATGGT	0.527																																																	0													73	67	69					3																	57139966		2203	4300	6503	SO:0001819	synonymous_variant	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.666G>A	3.37:g.57139966C>T			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.P222	ENST00000296318.7	37	c.666	CCDS2880.2	3																																																																																			IL17RD	-	NULL		0.527	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	C	NM_017563		57139966	-1	no_errors	ENST00000296318	ensembl	human	known	70_37	silent	SNP	0.561	T	T	57139966	C	T	57139966	2	4	55	1	0	0	0	0	0	0	0	1	7662	755	27	2		2	IL17RD	3	57139966	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	7985925	57139966	140882464	24	7372										
SLMAP	7871	genome.wustl.edu	37	chr3	57898234	57898234	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gctccttcatcaagcagcagCaaaggttgcctctgagcggg	12	12	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:57898234C>G	ENST00000428312.1	+	18	1869	c.1775C>G	c.(1774-1776)gCa>gGa	p.A592G	SLMAP_ENST00000494088.1_Missense_Mutation_p.A85G|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.A575G|SLMAP_ENST00000295951.3_Missense_Mutation_p.A575G|SLMAP_ENST00000442599.2_Missense_Mutation_p.A60G|SLMAP_ENST00000449503.2_Missense_Mutation_p.A554G|SLMAP_ENST00000416870.1_Missense_Mutation_p.A85G|SLMAP_ENST00000495364.1_Missense_Mutation_p.A126G			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	592					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAAGCAGCAGCAAAGGTTGCC	0.483																																																	0													97	92	94					3																	57898234		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1775C>G	3.37:g.57898234C>G	ENSP00000398661:p.Ala592Gly		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.A592G	ENST00000428312.1	37	c.1775		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	10.89|10.89|10.89	1.477294|1.477294|1.477294	0.26511|0.26511|0.26511	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088;ENST00000466255|ENST00000417128|ENST00000416658;ENST00000438794	T;T;T;T;T;T;T;T|.|.	0.44083|.|.	0.93;0.93;0.93;1.51;0.93;0.93;0.93;0.93|.|.	5.18|5.18|5.18	4.08|4.08|4.08	0.47627|0.47627|0.47627	Prefoldin beta-like (1);|.|.	0.204155|.|.	0.49916|.|.	D|.|.	0.000122|.|.	T|T|T	0.36193|0.36193|0.36193	0.0958|0.0958|0.0958	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.23882|0.23882|0.23882	N|N|N	0.996571|0.996571|0.996571	B;B;B;B;B;B;B;B|.|.	0.25719|.|.	0.07;0.06;0.057;0.132;0.03;0.046;0.017;0.099|.|.	B;B;B;B;B;B;B;B|.|.	0.36289|.|.	0.217;0.021;0.087;0.221;0.12;0.018;0.016;0.046|.|.	T|T|T	0.16837|0.16837|0.16837	-1.0389|-1.0389|-1.0389	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-0.578|-0.578|-0.578	12.2315|12.2315|12.2315	0.54490|0.54490|0.54490	0.6684:0.3316:0.0:0.0|0.6684:0.3316:0.0:0.0|0.6684:0.3316:0.0:0.0	.|.|.	85;60;126;85;186;554;592;575|.|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.|.	.;.;.;.;.;.;SLMAP_HUMAN;.|.|.	G|E|R	575;575;85;592;554;186;60;126;85;85|176|199;129	ENSP00000295951:A575G;ENSP00000295952:A575G;ENSP00000412342:A85G;ENSP00000398661:A592G;ENSP00000412945:A554G;ENSP00000388978:A60G;ENSP00000419543:A126G;ENSP00000418218:A85G|.|.	ENSP00000295951:A575G|.|.	A|Q|S	+|+|+	2|1|3	0|0|2	SLMAP|SLMAP|SLMAP	57873274|57873274|57873274	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.960000|0.960000|0.960000	0.62799|0.62799|0.62799	3.740000|3.740000|3.740000	0.55082|0.55082|0.55082	0.456000|0.456000|0.456000	0.26937|0.26937|0.26937	-0.363000|-0.363000|-0.363000	0.07495|0.07495|0.07495	GCA|CAA|AGC	SLMAP	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.483	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	C	NM_007159		57898234	1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57898234	C	G	57898234	3	3	55	1	0	0	0	0	1	0	0	0	14779	710	25	4	1790	4	SLMAP	3	57898234	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	758268	57898234	140124196	25	7373										
GPR156	165829	genome.wustl.edu	37	chr3	119892198	119892198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atggagcttttctctcccctCgggtggcagttctcctcctc	9	15	2	0	rs530427940		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:119892198C>T	ENST00000464295.1	-	9	1498	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	GPR156_ENST00000315843.3_Silent_p.P351P|GPR156_ENST00000461057.1_Silent_p.P347P			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	351						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTCTCCCCTCGGGTGGCAGT	0.512													C|||	1	0.000199681	0	0	5008	,	,		19013	0		0	False		,,,				2504	0.001																0													153	138	143					3																	119892198		2203	4300	6503	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1053G>A	3.37:g.119892198C>T			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.P351	ENST00000464295.1	37	c.1053	CCDS2997.1	3																																																																																			GPR156	-	NULL		0.512	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	C	NM_153002		119892198	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	silent	SNP	0.004	T	T	119892198	C	T	119892198	2	4	55	1	0	0	0	0	0	0	0	1	6680	871	31	1		1	GPR156	3	119892198	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	61993964	119892198	78130232	26	7374										
PODXL2	50512	genome.wustl.edu	37	chr3	127379482	127379482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agaagccaagcctcaggtccGtgacttttctctcaccagca	8	14	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:127379482G>A	ENST00000342480.6	+	3	650	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	204					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCTCAGGTCCGTGACTTTTCT	0.582																																																	0													94	106	102					3																	127379482		2203	4300	6503	SO:0001583	missense	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.611G>A	3.37:g.127379482G>A	ENSP00000345359:p.Arg204His		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin	p.R204H	ENST00000342480.6	37	c.611	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	G	0.398	-0.919786	0.02396	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.08008	3.14	4.67	-6.98	0.01611	.	2.269880	0.01613	N	0.022652	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	10	0.14252	T	0.57	0.146	1.9214	0.03308	0.3165:0.2412:0.3239:0.1183	.	204	Q9NZ53	PDXL2_HUMAN	H	204	ENSP00000345359:R204H	ENSP00000304498:R204H	R	+	2	0	PODXL2	128862172	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-1.358000	0.02604	-0.699000	0.05077	-0.658000	0.03865	CGT	PODXL2	-	NULL		0.582	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	G	NM_015720		127379482	1	no_errors	ENST00000342480	ensembl	human	known	70_37	missense	SNP	0.001	A	A	127379482	G	A	127379482	3	1	55	1	0	0	0	0	1	0	0	0	12205	1145	40	2	621	2	PODXL2	3	127379482	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	7487284	127379482	70642948	27	7375										
CLDN18	51208	genome.wustl.edu	37	chr3	137717717	137717717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cactgtgcgccaccatggccGtgactgcctgtcagggcttg	13	14	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:137717717G>A	ENST00000343735.4	+	1	141	c.7G>A	c.(7-9)Gtg>Atg	p.V3M		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	3					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CACCATGGCCGTGACTGCCTG	0.562																																																	0													102	84	90					3																	137717717		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.7G>A	3.37:g.137717717G>A	ENSP00000340939:p.Val3Met		A5PL21|Q96PH4	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.V3M	ENST00000343735.4	37	c.7	CCDS33862.1	3	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898006	0.52227	.	.	ENSG00000066405	ENST00000343735	D	0.85171	-1.95	4.48	4.48	0.54585	.	0.667267	0.14565	N	0.311802	D	0.83723	0.5316	.	.	.	0.80722	D	1	P	0.47545	0.897	B	0.40741	0.339	D	0.86358	0.1715	9	0.66056	D	0.02	.	17.7098	0.88318	0.0:0.0:1.0:0.0	.	3	P56856-2	.	M	3	ENSP00000340939:V3M	ENSP00000340939:V3M	V	+	1	0	CLDN18	139200407	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	6.271000	0.72569	2.474000	0.83562	0.563000	0.77884	GTG	CLDN18	-	NULL		0.562	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357198.2	G	NM_001002026		137717717	1	no_errors	ENST00000343735	ensembl	human	known	70_37	missense	SNP	0.983	A	A	137717717	G	A	137717717	3	1	55	1	0	0	0	0	1	0	0	0	3484	1145	40	2	9	2	CLDN18	3	137717717	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	10338235	137717717	60304713	28	7376										
PCOLCE2	26577	genome.wustl.edu	37	chr3	142539879	142539879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gatggttgtgataacagtgcCggctaatactgcagaagaaa	12	6	0	3	rs552293480		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:142539879C>T	ENST00000295992.3	-	8	1264	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R240Q	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	320	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATAACAGTGCCGGCTAATACT	0.433													C|||	1	0.000199681	0	0	5008	,	,		23151	0		0	False		,,,				2504	0.001																0													100	88	92					3																	142539879		2203	4300	6503	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.958G>A	3.37:g.142539879C>T	ENSP00000295992:p.Gly320Ser		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.G320S	ENST00000295992.3	37	c.958	CCDS3127.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310933|4.310933	0.81358|0.81358	.|.	.|.	ENSG00000163710|ENSG00000163710	ENST00000295992|ENST00000485766	T|T	0.36157|0.28069	1.27|1.63	5.42|5.42	5.42|5.42	0.78866|0.78866	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56381|0.56381	0.1981|0.1981	M|M	0.81341|0.81341	2.54|2.54	0.51233|0.51233	D|D	0.999911|0.999911	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	T|T	0.56019|0.56019	-0.8048|-0.8048	10|7	0.48119|0.40728	T|T	0.1|0.16	-20.9434|-20.9434	19.205|19.205	0.93726|0.93726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320|.	Q9UKZ9|.	PCOC2_HUMAN|.	S|Q	320|240	ENSP00000295992:G320S|ENSP00000419842:R240Q	ENSP00000295992:G320S|ENSP00000419842:R240Q	G|R	-|-	1|2	0|0	PCOLCE2|PCOLCE2	144022569|144022569	1.000000|1.000000	0.71417|0.71417	0.868000|0.868000	0.34077|0.34077	0.762000|0.762000	0.43233|0.43233	7.437000|7.437000	0.80417|0.80417	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GGC|CGG	PCOLCE2	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.433	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	C	NM_013363		142539879	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142539879	C	T	142539879	3	4	55	1	0	0	0	0	1	0	0	0	11619	652	23	2	297	2	PCOLCE2	3	142539879	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	4822162	142539879	55482551	29	7377										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	55	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	36396203	178936082	19086348	30	7378										
CRYGS	1427	genome.wustl.edu	37	chr3	186262102	186262102	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tatgactacttaccttggttCcagttttagacatttttggt	7	7	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:186262102C>G	ENST00000392499.2	-	2	353	c.14G>C	c.(13-15)gGa>gCa	p.G5A	CRYGS_ENST00000307944.5_Missense_Mutation_p.G5A	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	5	N-terminal arm.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TACCTTGGTTCCAGTTTTAGA	0.403																																																	0													149	136	141					3																	186262102		2203	4300	6503	SO:0001583	missense	1427				CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"crystallin, gamma 8"	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.14G>C	3.37:g.186262102C>G	ENSP00000376287:p.Gly5Ala		B2RAF8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G5A	ENST00000392499.2	37	c.14	CCDS3275.1	3	.	.	.	.	.	.	.	.	.	.	C	5.452	0.268558	0.10349	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.73363	-0.74;-0.74	5.85	1.34	0.21922	Gamma-crystallin-related (1);	0.279389	0.27236	U	0.020287	T	0.51126	0.1656	N	0.14661	0.345	0.31168	N	0.703504	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.10111	T	0.7	.	10.2462	0.43343	0.1412:0.4886:0.3701:0.0	.	5	P22914	CRBS_HUMAN	A	5	ENSP00000376287:G5A;ENSP00000312099:G5A	ENSP00000312099:G5A	G	-	2	0	CRYGS	187744796	0.848000	0.29623	0.994000	0.49952	0.956000	0.61745	0.428000	0.21395	0.327000	0.23409	0.655000	0.94253	GGA	CRYGS	-	superfamily_G_crystallin-rel		0.403	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGS	HGNC	protein_coding	OTTHUMT00000344784.1	C	NM_017541		186262102	-1	no_errors	ENST00000307944	ensembl	human	known	70_37	missense	SNP	0.985	G	G	186262102	C	G	186262102	3	3	55	1	0	0	0	0	1	0	0	0	3924	855	30	1	534	1	CRYGS	3	186262102	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	7326020	186262102	11760328	31	7379										
IDUA	3425	genome.wustl.edu	37	chr4	997845	997845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttctctcaggacggtaaggcGtacaccccggtcagcaggaa	12	12	3	0	rs148894462		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:997845G>A	ENST00000247933.4	+	13	1861	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	IDUA_ENST00000514224.1_Silent_p.A459A|IDUA_ENST00000453894.1_Silent_p.A613A	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	591			A -> T. {ECO:0000269|PubMed:21394825}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGTAAGGCGTACACCCCGG	0.607													G|||	1	0.000199681	0	0	5008	,	,		16599	0		0.001	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	190	188	189		1773	-5.2	0	4	dbSNP_134	189	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	IDUA	NM_000203.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		591/654	997845	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3425			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1773G>A	4.37:g.997845G>A			B3KWK6	Silent	SNP	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.A613	ENST00000247933.4	37	c.1839	CCDS3343.1	4																																																																																			IDUA	-	superfamily_Fibronectin_type3		0.607	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1	G	NM_000203		997845	1	no_errors	ENST00000453894	ensembl	human	known	70_37	silent	SNP	0.000	A	A	997845	G	A	997845	2	1	55	1	0	0	0	0	0	0	0	1	7524	1132	40	2		2	IDUA	4	997845	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		997845	190156431	32	7380										
SLC2A9	56606	genome.wustl.edu	37	chr4	9836556	9836556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aagttggagagccagttgacGgtgcctgcaatgatgaaggc	15	7	0	4	rs375423927		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:9836556G>A	ENST00000264784.3	-	11	1421	c.1368C>T	c.(1366-1368)acC>acT	p.T456T	SLC2A9_ENST00000506583.1_Silent_p.T427T|SLC2A9_ENST00000309065.3_Silent_p.T427T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	456					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GCCAGTTGACGGTGCCTGCAA	0.537																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	72	64	66		1281,1368	-7.3	0.9	4		66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	427/512,456/541	9836556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1368C>T	4.37:g.9836556G>A			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.T456	ENST00000264784.3	37	c.1368	CCDS3407.1	4																																																																																			SLC2A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.537	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	G			9836556	-1	no_errors	ENST00000264784	ensembl	human	known	70_37	silent	SNP	0.553	A	A	9836556	G	A	9836556	2	1	55	1	0	0	0	0	0	0	0	1	14582	1103	39	2		2	SLC2A9	4	9836556	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	8838711	9836556	181317720	33	7381										
ALPK1	80216	genome.wustl.edu	37	chr4	113352413	113352413	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aatggtgagggagctgttttCaacaagtctctgagtggcag	14	6	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:113352413C>T	ENST00000458497.1	+	11	1989	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	ALPK1_ENST00000177648.9_Silent_p.F570F|ALPK1_ENST00000504176.2_Silent_p.F492F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	570							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAGCTGTTTTCAACAAGTCTC	0.493																																																	0													96	97	96					4																	113352413		2203	4300	6503	SO:0001819	synonymous_variant	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1710C>T	4.37:g.113352413C>T			B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.F570	ENST00000458497.1	37	c.1710	CCDS3697.1	4																																																																																			ALPK1	-	NULL		0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	C	NM_025144		113352413	1	no_errors	ENST00000177648	ensembl	human	known	70_37	silent	SNP	0.000	T	T	113352413	C	T	113352413	2	4	55	1	0	0	0	0	0	0	0	1	544	825	29	1		1	ALPK1	4	113352413	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	103515857	113352413	77801863	34	7382										
KIAA1109	84162	genome.wustl.edu	37	chr4	123094304	123094304	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acaagcatggctatatccatAttggtgagtttgagttaaca	9	6	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:123094304A>T	ENST00000264501.4	+	4	584	c.211A>T	c.(211-213)Att>Ttt	p.I71F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I71F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I71F			Q2LD37	K1109_HUMAN	KIAA1109	71					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTATATCCATATTGGTGAGTT	0.328																																																	0													144	137	139					4																	123094304		1823	4078	5901	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.211A>T	4.37:g.123094304A>T	ENSP00000264501:p.Ile71Phe		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.I71F	ENST00000264501.4	37	c.211	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225394	0.79576	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.35973	1.88;1.88;1.28	5.6	5.6	0.85130	.	0.000000	0.41938	U	0.000794	T	0.29652	0.0740	L	0.39898	1.24	0.80722	D	1	P	0.44877	0.845	B	0.36719	0.231	T	0.05733	-1.0867	10	0.36615	T	0.2	.	15.4475	0.75243	1.0:0.0:0.0:0.0	.	71	Q2LD37	K1109_HUMAN	F	71	ENSP00000264501:I71F;ENSP00000373390:I71F;ENSP00000389925:I71F	ENSP00000264501:I71F	I	+	1	0	KIAA1109	123313754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.900000	0.75687	2.136000	0.66102	0.533000	0.62120	ATT	KIAA1109	-	NULL		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	A	NM_020797		123094304	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123094304	A	T	123094304	3	4	55	1	0	0	0	0	1	0	0	0	8228	449	16	5	217	5	KIAA1109	4	123094304	Missense_Mutation	SNP	A	TCGA-DG-A2KL-01A-11D-A17W-09	9741891	123094304	68059972	35	7383										
TMEM184C	55751	genome.wustl.edu	37	chr4	148554078	148554078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcagtagttattgctttgttGgtaaaagttggcgttatttc	11	4	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:148554078G>A	ENST00000296582.3	+	8	1378	c.804G>A	c.(802-804)ttG>ttA	p.L268L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	268						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGCTTTGTTGGTAAAAGTTG	0.393																																																	0													151	135	141					4																	148554078		2203	4300	6503	SO:0001819	synonymous_variant	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.804G>A	4.37:g.148554078G>A			D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	pfam_Ost-alpha	p.L268	ENST00000296582.3	37	c.804	CCDS3770.1	4																																																																																			TMEM184C	-	pfam_Ost-alpha		0.393	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	G	NM_018241		148554078	1	no_errors	ENST00000296582	ensembl	human	known	70_37	silent	SNP	1.000	A	A	148554078	G	A	148554078	2	1	55	1	0	0	0	0	0	0	0	1	16136	1339	47	4		4	TMEM184C	4	148554078	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	25459774	148554078	42600198	36	7384										
TRIM2	23321	genome.wustl.edu	37	chr4	154216602	154216602	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aagcagatgagcgagaagctGaacgagctggccgaccagga	15	9	0	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:154216602G>A	ENST00000437508.2	+	6	1044	c.843G>A	c.(841-843)ctG>ctA	p.L281L	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.L308L	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	281					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GCGAGAAGCTGAACGAGCTGG	0.582																																																	0													71	62	65					4																	154216602		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.843G>A	4.37:g.154216602G>A			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.L308	ENST00000437508.2	37	c.924	CCDS47147.1	4																																																																																			TRIM2	-	smart_Bbox_C		0.582	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	G			154216602	1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	0.998	A	A	154216602	G	A	154216602	2	1	55	1	0	0	0	0	0	0	0	1	16525	1277	45	1		1	TRIM2	4	154216602	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5662524	154216602	36937674	37	7385										
FSTL5	56884	genome.wustl.edu	37	chr4	162841709	162841709	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaggtccatacaggcacattCtgcttgccctgtctctctgc	8	14	3	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:162841709C>G	ENST00000306100.5	-	4	692	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	FSTL5_ENST00000536695.1_Missense_Mutation_p.E85Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.E85Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.E85Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	86	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGGCACATTCTGCTTGCCCT	0.453																																																	0													100	89	92					4																	162841709		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.256G>C	4.37:g.162841709C>G	ENSP00000305334:p.Glu86Gln		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.E86Q	ENST00000306100.5	37	c.256	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408426	0.83340	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72615	-0.66;-0.64;-0.67;-0.64	5.86	5.86	0.93980	.	0.106865	0.64402	D	0.000009	T	0.76343	0.3974	L	0.37697	1.125	0.58432	D	0.999999	D;D;D	0.71674	0.994;0.985;0.998	P;P;P	0.58620	0.767;0.735;0.842	T	0.75502	-0.3295	10	0.51188	T	0.08	.	19.5509	0.95319	0.0:1.0:0.0:0.0	.	85;85;86	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Q	86;85;85;85	ENSP00000305334:E86Q;ENSP00000368462:E85Q;ENSP00000389270:E85Q;ENSP00000440409:E85Q	ENSP00000305334:E86Q	E	-	1	0	FSTL5	163061159	1.000000	0.71417	0.953000	0.39169	0.738000	0.42128	5.654000	0.67974	2.937000	0.99478	0.650000	0.86243	GAA	FSTL5	-	NULL		0.453	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162841709	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	G	G	162841709	C	G	162841709	3	3	55	1	0	0	0	0	1	0	0	0	6098	922	32	1	2339	1	FSTL5	4	162841709	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	8625107	162841709	28312567	38	7386										
TLR3	7098	genome.wustl.edu	37	chr4	187003882	187003882	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cctcactccccaagattgatGatttttcttttcagtggcta	6	11	3	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:187003882G>T	ENST00000296795.3	+	4	1146	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	TLR3_ENST00000504367.1_Missense_Mutation_p.D71Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	348					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAAGATTGATGATTTTTCTTT	0.373																																																	0													62	57	58					4																	187003882		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1042G>T	4.37:g.187003882G>T	ENSP00000296795:p.Asp348Tyr		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D348Y	ENST00000296795.3	37	c.1042	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874226	0.33069	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.26067	1.76;1.76	5.48	3.77	0.43336	.	0.041576	0.85682	D	0.000000	T	0.50650	0.1628	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.54649	-0.8262	10	0.56958	D	0.05	.	12.3022	0.54880	0.1381:0.0:0.8619:0.0	.	348	O15455	TLR3_HUMAN	Y	348;348;71	ENSP00000296795:D348Y;ENSP00000423684:D71Y	ENSP00000296795:D348Y	D	+	1	0	TLR3	187240876	1.000000	0.71417	0.997000	0.53966	0.231000	0.25187	6.644000	0.74338	0.803000	0.34113	-0.259000	0.10710	GAT	TLR3	-	NULL		0.373	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	G			187003882	1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.995	T	T	187003882	G	T	187003882	3	4	55	1	0	0	0	0	1	0	0	0	15982	1290	45	3	1052	3	TLR3	4	187003882	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	24162173	187003882	4150394	39	7387										
ACTBL2	345651	genome.wustl.edu	37	chr5	56778417	56778417	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	taccataacgccctggtgtcGaggacgccctatcatggagg	12	12	1	0	rs139028085	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:56778417G>A	ENST00000423391.1	-	1	219	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	40						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCTGGTGTCGAGGACGCCCT	0.587													G|||	3	0.000599042	0.0023	0	5008	,	,		20993	0		0	False		,,,				2504	0																0								G	stop/ARG	15,4391	20.2+/-43.8	0,15,2188	85	59	68		118	4.1	1	5	dbSNP_134	68	0,8600		0,0,4300	yes	stop-gained	ACTBL2	NM_001017992.2		0,15,6488	AA,AG,GG		0.0,0.3404,0.1153		40/377	56778417	15,12991	2203	4300	6503	SO:0001587	stop_gained	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.118C>T	5.37:g.56778417G>A	ENSP00000416706:p.Arg40*		B2RPJ1|Q562R2|Q562S9|Q562X8	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R40*	ENST00000423391.1	37	c.118	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.100530	0.94245	0.003404	0.0	ENSG00000169067	ENST00000423391	.	.	.	5.0	4.06	0.47325	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9399	0.41574	0.0:0.0:0.7023:0.2977	.	.	.	.	X	40	.	ENSP00000416706:R40X	R	-	1	2	ACTBL2	56814174	0.453000	0.25721	0.994000	0.49952	0.896000	0.52359	0.930000	0.28858	2.593000	0.87608	0.563000	0.77884	CGA	ACTBL2	-	pfam_Actin-like,smart_Actin-like		0.587	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	G	NM_001017992		56778417	-1	no_errors	ENST00000423391	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	56778417	G	A	56778417	4	1	55	1	0	0	0	0	0	1	0	0	194	1066	37	1	1016	1	ACTBL2	5	56778417	Nonsense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		56778417	124136843	40	7388										
ZNF366	167465	genome.wustl.edu	37	chr5	71756370	71756370	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttcaggtggctggtctgggtGaaggccttgtggcacacctg	16	9	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:71756370G>A	ENST00000318442.5	-	2	1444	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	318					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGTCTGGGTGAAGGCCTTGT	0.652																																																	0													48	44	45					5																	71756370		2203	4300	6503	SO:0001819	synonymous_variant	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.954C>T	5.37:g.71756370G>A			Q5HYI9|Q7RTV4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F318	ENST00000318442.5	37	c.954	CCDS4015.1	5																																																																																			ZNF366	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	G			71756370	-1	no_errors	ENST00000318442	ensembl	human	known	70_37	silent	SNP	1.000	A	A	71756370	G	A	71756370	2	1	55	1	0	0	0	0	0	0	0	1	17900	1281	45	1		1	ZNF366	5	71756370	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	14977953	71756370	109158890	41	7389										
SHROOM1	134549	genome.wustl.edu	37	chr5	132159867	132159867	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aggtttgaggaggtcactctCtgcagctgtggggggattgg	18	6	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:132159867C>T	ENST00000378679.3	-	7	2290	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	SHROOM1_ENST00000378676.1_Missense_Mutation_p.E427K|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Missense_Mutation_p.E496K	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	496					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCACTCTCTGCAGCTGTG	0.557																																																	0													98	91	93					5																	132159867		2203	4300	6503	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1486G>A	5.37:g.132159867C>T	ENSP00000367950:p.Glu496Lys		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1	p.E496K	ENST00000378679.3	37	c.1486	CCDS54902.1	5	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438757	0.62955	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.36340	1.26;1.27;1.33	4.16	4.16	0.48862	.	0.672691	0.14646	N	0.306861	T	0.44286	0.1286	L	0.32530	0.975	0.09310	N	1	D;D	0.67145	0.996;0.994	D;P	0.64877	0.93;0.854	T	0.17410	-1.0370	10	0.28530	T	0.3	-14.8737	12.2646	0.54670	0.0:1.0:0.0:0.0	.	496;496	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	K	496;496;427	ENSP00000367950:E496K;ENSP00000324245:E496K;ENSP00000367947:E427K	ENSP00000324245:E496K	E	-	1	0	SHROOM1	132187766	0.263000	0.24083	0.121000	0.21740	0.624000	0.37722	2.059000	0.41384	2.620000	0.88729	0.561000	0.74099	GAG	SHROOM1	-	NULL		0.557	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	C	NM_133456		132159867	-1	no_errors	ENST00000378679	ensembl	human	known	70_37	missense	SNP	0.141	T	T	132159867	C	T	132159867	3	4	55	1	0	0	0	0	1	0	0	0	14323	922	32	1	1088	1	SHROOM1	5	132159867	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	60403497	132159867	48755393	42	7390										
PCDHA7	56141	genome.wustl.edu	37	chr5	140215233	140215233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cgagagtgtgtccgcctatgAgctggtggttaccgcgcggg	17	10	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:140215233A>G	ENST00000525929.1	+	1	1265	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E422G|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCCTATGAGCTGGTGGTT	0.627																																					NSCLC(160;258 2013 5070 22440 28951)												0													112	114	113					5																	140215233		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1265A>G	5.37:g.140215233A>G	ENSP00000436426:p.Glu422Gly		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E422G	ENST00000525929.1	37	c.1265	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	A	4.773	0.143758	0.09134	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01705	4.68;4.68	4.04	1.54	0.23209	Cadherin (5);Cadherin-like (1);	1.265730	0.06740	U	0.778219	T	0.03564	0.0102	M	0.70787	2.145	0.09310	N	1	B;B	0.16166	0.013;0.016	B;B	0.32928	0.026;0.155	T	0.49504	-0.8933	10	0.44086	T	0.13	.	2.2396	0.04017	0.5963:0.1607:0.0884:0.1546	.	422;422	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	G	422	ENSP00000436426:E422G;ENSP00000367365:E422G	ENSP00000367365:E422G	E	+	2	0	PCDHA7	140195417	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	0.934000	0.28910	0.092000	0.17331	0.254000	0.18369	GAG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.627	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	A	NM_018910		140215233	1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.008	G	G	140215233	A	G	140215233	3	3	55	1	0	0	0	0	1	0	0	0	11553	304	11	5	1267	5	PCDHA7	5	140215233	Missense_Mutation	SNP	A	TCGA-DG-A2KL-01A-11D-A17W-09	8055366	140215233	40700027	43	7391										
PCDHA7	56141	genome.wustl.edu	37	chr5	140215534	140215534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaggtgtacgcgctgcagccGttggaccacgaggagctgga	16	10	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:140215534G>A	ENST00000525929.1	+	1	1566	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P522P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682																																					NSCLC(160;258 2013 5070 22440 28951)												0													77	84	81					5																	140215534		2200	4290	6490	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1566G>A	5.37:g.140215534G>A			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P522	ENST00000525929.1	37	c.1566	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	G	NM_018910		140215534	1	no_errors	ENST00000525929	ensembl	human	known	70_37	silent	SNP	0.132	A	A	140215534	G	A	140215534	2	1	55	1	0	0	0	0	0	0	0	1	11553	1132	40	2		2	PCDHA7	5	140215534	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	301	140215534	40699726	44	7392										
PCDHB11	56125	genome.wustl.edu	37	chr5	140579541	140579541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	actgtcctcacggggggctcGggtggtctctaatgataaga	14	9	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:140579541G>T	ENST00000354757.3	+	1	194	c.194G>T	c.(193-195)cGg>cTg	p.R65L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGGGGCTCGGGTGGTCTCT	0.517																																																	0													90	102	98					5																	140579541		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.194G>T	5.37:g.140579541G>T	ENSP00000346802:p.Arg65Leu		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R65L	ENST00000354757.3	37	c.194	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	g	16.01	3.000418	0.54147	.	.	ENSG00000197479	ENST00000354757	T	0.38401	1.14	2.8	-5.49	0.02584	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.63498	0.2516	H	0.94582	3.555	0.09310	N	1	D	0.58268	0.982	D	0.65323	0.934	T	0.62671	-0.6805	9	0.87932	D	0	.	12.0708	0.53616	0.3388:0.0:0.6612:0.0	.	65	Q9Y5F2	PCDBB_HUMAN	L	65	ENSP00000346802:R65L	ENSP00000346802:R65L	R	+	2	0	PCDHB11	140559725	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.671000	0.05250	-1.527000	0.01758	-1.501000	0.00957	CGG	PCDHB11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.517	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140579541	1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140579541	G	T	140579541	3	4	55	1	0	0	0	0	1	0	0	0	11560	1116	39	2	196	2	PCDHB11	5	140579541	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	364007	140579541	40335719	45	7393										
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171777403	171777403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtcgggcaccgggcggccttCaaaccgcccgtccctctggc	13	18	2	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:171777403C>G	ENST00000311601.5	-	10	1146	c.976G>C	c.(976-978)Gaa>Caa	p.E326Q	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E326Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	326					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCGGCCTTCAAACCGCCCG	0.657																																																	0													35	39	38					5																	171777403		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.976G>C	5.37:g.171777403C>G	ENSP00000309714:p.Glu326Gln		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.E326Q	ENST00000311601.5	37	c.976	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.140076	0.06669	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.60672	0.36;0.17	5.03	5.03	0.67393	Src homology-3 domain (1);	0.308866	0.30347	N	0.009833	T	0.48314	0.1493	L	0.51422	1.61	0.26765	N	0.969929	B	0.15141	0.012	B	0.16289	0.015	T	0.30650	-0.9971	10	0.14656	T	0.56	-12.6033	11.732	0.51744	0.0:0.8217:0.1783:0.0	.	326	A1X283	SPD2B_HUMAN	Q	326	ENSP00000430890:E326Q;ENSP00000309714:E326Q	ENSP00000309714:E326Q	E	-	1	0	SH3PXD2B	171710008	0.996000	0.38824	0.897000	0.35233	0.014000	0.08584	4.351000	0.59398	2.325000	0.78763	0.561000	0.74099	GAA	SH3PXD2B	-	superfamily_SH3_domain		0.657	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	C	NM_017963		171777403	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	missense	SNP	0.729	G	G	171777403	C	G	171777403	3	3	55	1	0	0	0	0	1	0	0	0	14287	835	29	1	1775	1	SH3PXD2B	5	171777403	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	31197862	171777403	9137857	46	7394										
CDHR2	54825	genome.wustl.edu	37	chr5	176011691	176011691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aatgtgaaagacgtgaacgaCaatccccccaccctggatgt	9	12	0	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:176011691C>A	ENST00000510636.1	+	19	2683	c.2409C>A	c.(2407-2409)gaC>gaA	p.D803E	CDHR2_ENST00000261944.5_Missense_Mutation_p.D803E|CDHR2_ENST00000506348.1_Missense_Mutation_p.D803E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	803	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGTGAACGACAATCCCCCCA	0.597																																																	0													109	108	109					5																	176011691		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2409C>A	5.37:g.176011691C>A	ENSP00000424565:p.Asp803Glu		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D803E	ENST00000510636.1	37	c.2409	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828828	0.32329	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.67171	-0.25;-0.25;-0.25	5.12	-5.92	0.02261	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.82056	0.4954	M	0.87682	2.9	0.33670	D	0.610774	D	0.89917	1.0	D	0.91635	0.999	D	0.85308	0.1077	9	0.87932	D	0	-28.7084	18.1722	0.89749	0.0:0.2539:0.0:0.7461	.	803	Q9BYE9	CDHR2_HUMAN	E	803	ENSP00000424565:D803E;ENSP00000261944:D803E;ENSP00000421078:D803E	ENSP00000261944:D803E	D	+	3	2	CDHR2	175944297	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.204000	0.00559	-1.342000	0.02222	0.549000	0.68633	GAC	CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675		176011691	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.001	A	A	176011691	C	A	176011691	3	1	55	1	0	0	0	0	1	0	0	0	3124	477	17	4	2479	4	CDHR2	5	176011691	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	4234288	176011691	4903569	47	7395										
SERPINB1	1992	genome.wustl.edu	37	chr6	2836096	2836096	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cccaggagccataccttcttCaggcccgtggactcgtcctc	9	17	2	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:2836096C>T	ENST00000380739.5	-	6	931	c.729G>A	c.(727-729)ctG>ctA	p.L243L	SERPINB1_ENST00000537185.1_Silent_p.L92L|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	243					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		ATACCTTCTTCAGGCCCGTGG	0.537																																																	0													92	76	81					6																	2836096		2203	4300	6503	SO:0001819	synonymous_variant	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.729G>A	6.37:g.2836096C>T			A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L243	ENST00000380739.5	37	c.729	CCDS4477.1	6																																																																																			SERPINB1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.537	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1	C			2836096	-1	no_errors	ENST00000380739	ensembl	human	known	70_37	silent	SNP	0.368	T	T	2836096	C	T	2836096	2	4	55	1	0	0	0	0	0	0	0	1	14126	813	29	1		1	SERPINB1	6	2836096	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		2836096	168278971	48	7396										
CAGE1	285782	genome.wustl.edu	37	chr6	7386054	7386054	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tagtgtgccataagcatcttCacaaagtgtggattcatact	8	8	3	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:7386054C>T	ENST00000512086.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CAGE1_ENST00000509324.1_5'UTR|CAGE1_ENST00000502583.1_Missense_Mutation_p.E83K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E83K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E83K|CAGE1_ENST00000296742.7_5'UTR			Q8TC20	CAGE1_HUMAN	cancer antigen 1	83										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TAAGCATCTTCACAAAGTGTG	0.313																																																	0													391	329	348					6																	7386054		692	1589	2281	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.247G>A	6.37:g.7386054C>T	ENSP00000427583:p.Glu83Lys		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.E83K	ENST00000512086.1	37	c.247		6	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836518	0.16891	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	4.39	1.38	0.22167	.	0.242522	0.29389	N	0.012283	T	0.08891	0.0220	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	8	0.26408	T	0.33	-2.9982	5.4746	0.16688	0.0:0.6271:0.0:0.3729	.	.	.	.	K	83;83;83;83;83;83;95	ENSP00000369250:E83K;ENSP00000425493:E83K;ENSP00000427583:E83K;ENSP00000338107:E83K;ENSP00000423789:E95K	ENSP00000338107:E83K	E	-	1	0	CAGE1	7331053	0.426000	0.25506	0.032000	0.17829	0.019000	0.09904	0.434000	0.21494	0.498000	0.27948	0.655000	0.94253	GAA	CAGE1	-	NULL		0.313	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	C	NM_175745		7386054	-1	no_errors	ENST00000338150	ensembl	human	known	70_37	missense	SNP	0.015	T	T	7386054	C	T	7386054	3	4	55	1	0	0	0	0	1	0	0	0	2577	835	29	1	2426	1	CAGE1	6	7386054	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	4549958	7386054	163729013	49	7397										
HIST1H4E	8367	genome.wustl.edu	37	chr6	26205062	26205062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gggttctgaaggtgtttctgGaaaacgtgattcgtgatgct	14	5	2	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:26205062G>A	ENST00000360441.4	+	1	205	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTGTTTCTGGAAAACGTGAT	0.572																																																	0													131	119	123					6																	26205062		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.190G>A	6.37:g.26205062G>A	ENSP00000353624:p.Glu64Lys		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.E64K	ENST00000360441.4	37	c.190	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	18.10	3.547700	0.65311	.	.	ENSG00000198518	ENST00000360441	T	0.70869	-0.52	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.69895	0.3162	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.73777	-0.3876	7	0.54805	T	0.06	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	K	64	ENSP00000353624:E64K	ENSP00000353624:E64K	E	+	1	0	HIST1H4E	26313041	1.000000	0.71417	0.728000	0.30774	0.008000	0.06430	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	GAA	HIST1H4E	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.572	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	G	NM_003545		26205062	1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26205062	G	A	26205062	3	1	55	1	0	0	0	0	1	0	0	0	7189	1175	41	1	192	1	HIST1H4E	6	26205062	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	18819008	26205062	144910005	50	7398										
HIST1H2BG	8339	genome.wustl.edu	37	chr6	26216847	26216847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggaacccttcttcggagcagGagctgacttagctggttcag	13	10	2	1	rs149681157		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:26216847G>A	ENST00000244601.3	-	1	25	c.25C>T	c.(25-27)Cct>Tct	p.P9S	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	9					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTCGGAGCAGGAGCTGACTTA	0.483																																																	0								G	SER/PRO	0,4406		0,0,2203	103	95	98		25	3.9	0	6	dbSNP_134	98	1,8599		0,1,4299	yes	missense	HIST1H2BG	NM_003518.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	9/127	26216847	1,13005	2203	4300	6503	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.25C>T	6.37:g.26216847G>A	ENSP00000244601:p.Pro9Ser		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P9S	ENST00000244601.3	37	c.25	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	17.73	3.460680	0.63513	0.0	1.16E-4	ENSG00000187990	ENST00000244601	T	0.21932	1.98	3.9	3.9	0.45041	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.39058	D	0.960462	.	.	.	.	.	.	T	0.14227	-1.0480	6	0.72032	D	0.01	.	15.3941	0.74778	0.0:0.0:1.0:0.0	.	.	.	.	S	9	ENSP00000244601:P9S	ENSP00000244601:P9S	P	-	1	0	HIST1H2BG	26324826	1.000000	0.71417	0.030000	0.17652	0.150000	0.21749	5.481000	0.66826	2.163000	0.67991	0.655000	0.94253	CCT	HIST1H2BG	-	superfamily_Histone-fold		0.483	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	G	NM_003518		26216847	-1	no_errors	ENST00000244601	ensembl	human	known	70_37	missense	SNP	0.997	A	A	26216847	G	A	26216847	3	1	55	1	0	0	0	0	1	0	0	0	7166	1174	41	1	359	1	HIST1H2BG	6	26216847	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	11785	26216847	144898220	51	7399										
BAT2	7916	genome.wustl.edu	37	chr6	31599370	31599370	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agcccctcgaacagggggatGaaacccccaaacccccaaag	9	16	0	1	rs115591494	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:31599370G>A	ENST00000376033.2	+	16	3154	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	974	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACAGGGGGATGAAACCCCCAA	0.612																																																	0													16	19	18					6																	31599370		1500	2705	4205	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2920G>A	6.37:g.31599370G>A	ENSP00000365201:p.Glu974Lys		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E974K	ENST00000376033.2	37	c.2920	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279338	0.23307	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.15718	2.4;2.4	5.2	5.2	0.72013	.	0.109263	0.41001	D	0.000980	T	0.05868	0.0153	N	0.19112	0.55	0.41621	D	0.98896	P	0.38922	0.651	B	0.27262	0.078	T	0.16808	-1.0390	10	0.87932	D	0	-7.3324	17.6776	0.88235	0.0:0.0:1.0:0.0	.	974	P48634	PRC2A_HUMAN	K	974;963;974;974;199	ENSP00000365175:E974K;ENSP00000365201:E974K	ENSP00000365175:E974K	E	+	1	0	PRRC2A	31707349	1.000000	0.71417	0.997000	0.53966	0.597000	0.36814	4.930000	0.63462	2.722000	0.93159	0.655000	0.94253	GAA	PRRC2A	-	NULL		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31599370	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	0.998	A	A	31599370	G	A	31599370	3	1	55	1	0	0	0	0	1	0	0	0	1320	1291	45	1	2978	1	BAT2	6	31599370	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5382523	31599370	139515697	52	7400										
HLA-DMA	3108	genome.wustl.edu	37	chr6	32917176	32917176	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agggcagtgcgttccggggtActggaggaaatgagtggctc	18	7	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:32917176A>G	ENST00000374843.4	-	4	738	c.653T>C	c.(652-654)gTa>gCa	p.V218A	HLA-DMA_ENST00000395305.3_Splice_Site_p.V123A|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Splice_Site_p.V184A	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	218	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GTTCCGGGGTACTGGAGGAAA	0.597																																																	0													67	63	65					6																	32917176		2203	4300	6503	SO:0001630	splice_region_variant	3108				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.653-1T>C	6.37:g.32917176A>G			Q29639|Q29640	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.V218A	ENST00000374843.4	37	c.653	CCDS4761.1	6	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323213	0.41096	.	.	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	T;T;T;T	0.01430	5.45;4.9;5.93;5.89	5.13	5.13	0.70059	.	0.153917	0.44097	D	0.000496	T	0.01454	0.0047	M	0.64997	1.995	0.40106	D	0.976436	P	0.51057	0.941	P	0.45753	0.492	T	0.59726	-0.7400	10	0.59425	D	0.04	.	11.4947	0.50402	1.0:0.0:0.0:0.0	.	218	Q31604	.	A	123;184;218;248	ENSP00000378716:V123A;ENSP00000378714:V184A;ENSP00000363976:V218A;ENSP00000409668:V248A	ENSP00000363976:V218A	V	-	2	0	HLA-DMA	33025154	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.471000	0.60182	2.281000	0.76405	0.523000	0.50628	GTA	HLA-DMA	-	NULL		0.597	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMA	HGNC	protein_coding	OTTHUMT00000076325.2	A	NM_006120	Missense_Mutation	32917176	-1	no_errors	ENST00000374843	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32917176	A	G	32917176	5	3	55	1	0	0	0	0	0	0	1	0	7218	405	14	5	140	5	HLA-DMA	6	32917176	Splice_Site	SNP	A	TCGA-DG-A2KL-01A-11D-A17W-09	1317806	32917176	138197891	53	7401										
USP49	25862	genome.wustl.edu	37	chr6	41773771	41773771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcctcggccctgtcatttctCaaggacagctccgtggccga	11	15	2	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:41773771C>G	ENST00000394253.3	-	3	1280	c.951G>C	c.(949-951)ttG>ttC	p.L317F	USP49_ENST00000373009.3_Missense_Mutation_p.L317F|USP49_ENST00000297229.2_Missense_Mutation_p.L317F|USP49_ENST00000373010.1_Missense_Mutation_p.L317F|USP49_ENST00000373006.1_Missense_Mutation_p.L317F			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	317	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTCATTTCTCAAGGACAGCT	0.577																																																	0													39	45	43					6																	41773771		2203	4300	6503	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.951G>C	6.37:g.41773771C>G	ENSP00000377797:p.Leu317Phe		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L317F	ENST00000394253.3	37	c.951		6	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234200	0.09969	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06608	3.76;3.28;3.76;3.54;3.54	5.4	-6.17	0.02091	.	1.269220	0.05505	N	0.559211	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.49826	-0.8898	10	0.51188	T	0.08	0.0159	9.7911	0.40706	0.0:0.2462:0.5097:0.2441	.	317	Q70CQ1-2	.	F	317	ENSP00000377797:L317F;ENSP00000362101:L317F;ENSP00000362100:L317F;ENSP00000362097:L317F;ENSP00000297229:L317F	ENSP00000297229:L317F	L	-	3	2	USP49	41881749	0.000000	0.05858	0.001000	0.08648	0.480000	0.33159	-0.711000	0.05019	-0.774000	0.04590	0.655000	0.94253	TTG	USP49	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.577	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	USP49	HGNC	protein_coding	OTTHUMT00000316513.3	C	NM_018561		41773771	-1	no_errors	ENST00000373009	ensembl	human	known	70_37	missense	SNP	0.002	G	G	41773771	C	G	41773771	3	3	55	1	0	0	0	0	1	0	0	0	17111	825	29	1	987	1	USP49	6	41773771	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	8856595	41773771	129341296	54	7402										
PKHD1	5314	genome.wustl.edu	37	chr6	51613210	51613210	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtggaccacgctggctgtgtCatcagaaccacaaggttatt	11	10	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:51613210C>G	ENST00000371117.3	-	58	9479	c.9204G>C	c.(9202-9204)atG>atC	p.M3068I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M3068I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3068					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGCTGTGTCATCAGAACCA	0.478																																																	0													152	135	141					6																	51613210		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9204G>C	6.37:g.51613210C>G	ENSP00000360158:p.Met3068Ile		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.M3068I	ENST00000371117.3	37	c.9204	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	3.562	-0.089365	0.07097	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79749	-1.3;-1.24	5.86	-2.72	0.05968	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.858065	0.10468	N	0.671063	T	0.39332	0.1074	N	0.17474	0.49	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.14023	0.006;0.004;0.01	T	0.31586	-0.9938	10	0.19147	T	0.46	.	7.5625	0.27860	0.0:0.1978:0.2847:0.5175	.	3068;3068;3068	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	3068	ENSP00000360158:M3068I;ENSP00000341097:M3068I	ENSP00000341097:M3068I	M	-	3	0	PKHD1	51721169	0.519000	0.26242	0.338000	0.25549	0.246000	0.25737	-0.218000	0.09240	-0.214000	0.10078	-0.175000	0.13238	ATG	PKHD1	-	superfamily_Pectin_lyase_fold/virulence		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51613210	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.158	G	G	51613210	C	G	51613210	3	3	55	1	0	0	0	0	1	0	0	0	11995	826	29	1	3099	1	PKHD1	6	51613210	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	9839439	51613210	119501857	55	7403										
BAI3	577	genome.wustl.edu	37	chr6	69728348	69728348	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atacacattgttggaatgggGatgatggactttcagaattc	11	5	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:69728348G>T	ENST00000370598.1	+	13	2885	c.2064G>T	c.(2062-2064)ggG>ggT	p.G688G		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	688					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGGAATGGGGATGATGGACT	0.308																																																	0													140	147	145					6																	69728348		2203	4300	6503	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2064G>T	6.37:g.69728348G>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G688	ENST00000370598.1	37	c.2064	CCDS4968.1	6																																																																																			BAI3	-	pfam_DUF3497		0.308	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69728348	1	no_errors	ENST00000370598	ensembl	human	known	70_37	silent	SNP	0.985	T	T	69728348	G	T	69728348	2	4	55	1	0	0	0	0	0	0	0	1	1301	1161	41	3		3	BAI3	6	69728348	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	18115138	69728348	101386719	56	7404										
COL12A1	1303	genome.wustl.edu	37	chr6	75813485	75813485	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atacttacaattgccccactGatacctctttcacctctggg	5	14	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:75813485G>A	ENST00000322507.8	-	55	8616	c.8307C>T	c.(8305-8307)atC>atT	p.I2769I	COL12A1_ENST00000416123.2_Silent_p.I2693I|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Silent_p.I2769I|COL12A1_ENST00000345356.6_Silent_p.I1605I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2769	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGCCCCACTGATACCTCTTT	0.368																																																	0													100	94	96					6																	75813485		1828	4086	5914	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8307C>T	6.37:g.75813485G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.I2769	ENST00000322507.8	37	c.8307	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Collagen		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75813485	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	silent	SNP	0.993	A	A	75813485	G	A	75813485	2	1	55	1	0	0	0	0	0	0	0	1	3674	1280	45	1		1	COL12A1	6	75813485	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	6085137	75813485	95301582	57	7405										
MCHR2	84539	genome.wustl.edu	37	chr6	100403985	100403985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	caggatttgtttaaaagttcGgcagaggtgttccaacaaga	11	6	0	2	rs374330201		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:100403985G>A	ENST00000281806.2	-	2	353	c.39C>T	c.(37-39)gcC>gcT	p.A13A	MCHR2_ENST00000369212.2_Silent_p.A13A	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTAAAAGTTCGGCAGAGGTGT	0.388																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	144	145	145		39,39	-1	0.6	6		145	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCHR2	NM_001040179.1,NM_032503.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	13/341,13/341	100403985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.39C>T	6.37:g.100403985G>A			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.A13	ENST00000281806.2	37	c.39	CCDS5044.1	6																																																																																			MCHR2	-	prints_MCH2_receptor		0.388	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100403985	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	silent	SNP	0.202	A	A	100403985	G	A	100403985	2	1	55	1	0	0	0	0	0	0	0	1	9406	1103	39	2		2	MCHR2	6	100403985	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	24590500	100403985	70711082	58	7406										
BEND3	57673	genome.wustl.edu	37	chr6	107391786	107391786	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atgttggacgtgagggtgttCagcatgtagaacatcttctg	13	6	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:107391786C>T	ENST00000369042.1	-	4	799	c.609G>A	c.(607-609)ctG>ctA	p.L203L	BEND3_ENST00000429433.2_Silent_p.L203L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	203										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGAGGGTGTTCAGCATGTAGA	0.572																																																	0													144	110	122					6																	107391786		2203	4300	6503	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.609G>A	6.37:g.107391786C>T			A2RRH2|Q9HCL9	Silent	SNP	pfam_BEN_domain	p.L203	ENST00000369042.1	37	c.609	CCDS34507.1	6																																																																																			BEND3	-	NULL		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107391786	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	silent	SNP	0.993	T	T	107391786	C	T	107391786	2	4	55	1	0	0	0	0	0	0	0	1	1400	813	29	1		1	BEND3	6	107391786	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	6987801	107391786	63723281	59	7407										
LAMA4	3910	genome.wustl.edu	37	chr6	112575049	112575049	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cctagcccaggtgaaactctCaaggcactggggagaggaaa	13	10	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:112575049C>G	ENST00000230538.7	-	2	593				RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000368638.4_Missense_Mutation_p.E102Q|LAMA4_ENST00000453937.2_Missense_Mutation_p.E102Q|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000585450.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTGAAACTCTCAAGGCACTGG	0.542																																																	0													49	56	54					6																	112575049		2147	4295	6442	SO:0001627	intron_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.195+108G>C	6.37:g.112575049C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	NULL	p.E102Q	ENST00000230538.7	37	c.304	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188338	0.57909	.	.	ENSG00000112769	ENST00000368638;ENST00000453937;ENST00000455073	.	.	.	5.0	-8.81	0.00813	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.21151	0.033	T	0.24083	-1.0170	7	0.87932	D	0	.	0.6289	0.00791	0.2224:0.2027:0.3014:0.2734	.	102	Q16363-3	.	Q	102	.	ENSP00000357627:E102Q	E	-	1	0	LAMA4	112681742	0.010000	0.17322	0.000000	0.03702	0.031000	0.12232	0.657000	0.24963	-1.852000	0.01166	0.467000	0.42956	GAG	LAMA4	-	NULL		0.542	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206		112575049	-1	no_errors	ENST00000368638	ensembl	human	known	70_37	missense	SNP	0.000	G	G	112575049	C	G	112575049	1	3	55	0	1	0	0	0	0	0	0	0	8628	835	29	1		1	LAMA4	6	112575049	Intron	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	5183263	112575049	58540018	60	7408										
CLVS2	134829	genome.wustl.edu	37	chr6	123319253	123319253	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tccctgggggcctggccaatCtggaccactatggcaggaag	14	12	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:123319253C>G	ENST00000275162.5	+	2	1666	c.331C>G	c.(331-333)Ctg>Gtg	p.L111V	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	111	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CCTGGCCAATCTGGACCACTA	0.507																																																	0													61	59	60					6																	123319253		2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.331C>G	6.37:g.123319253C>G	ENSP00000275162:p.Leu111Val		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.L111V	ENST00000275162.5	37	c.331	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474947	0.43942	.	.	ENSG00000146352	ENST00000275162	T	0.74947	-0.89	5.48	3.71	0.42584	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	N	0.12182	0.205	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.43766	-0.9371	10	0.45353	T	0.12	-11.5328	11.9681	0.53047	0.0:0.8606:0.0:0.1394	.	111	Q5SYC1	CLVS2_HUMAN	V	111	ENSP00000275162:L111V	ENSP00000275162:L111V	L	+	1	2	CLVS2	123360952	0.996000	0.38824	0.931000	0.37212	0.954000	0.61252	3.230000	0.51286	0.881000	0.35993	-0.145000	0.13849	CTG	CLVS2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran		0.507	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123319253	1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	0.997	G	G	123319253	C	G	123319253	3	3	55	1	0	0	0	0	1	0	0	0	3577	912	32	1	333	1	CLVS2	6	123319253	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	10744204	123319253	47795814	61	7409										
FUCA2	2519	genome.wustl.edu	37	chr6	143825101	143825101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgctgttccagtattgatccGgtgctcctccgtcaccatcc	8	15	1	1	rs367663563		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:143825101G>T	ENST00000002165.6	-	3	756	c.701C>A	c.(700-702)cCg>cAg	p.P234Q	RP1-20N2.6_ENST00000415586.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	234					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTATTGATCCGGTGCTCCTCC	0.453																																																	0													81	74	76					6																	143825101		2203	4300	6503	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.701C>A	6.37:g.143825101G>T	ENSP00000002165:p.Pro234Gln		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.P234Q	ENST00000002165.6	37	c.701	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175252	0.57692	.	.	ENSG00000001036	ENST00000002165	T	0.56941	0.43	5.62	5.62	0.85841	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.69476	-0.5135	10	0.52906	T	0.07	-10.7397	19.6537	0.95828	0.0:0.0:1.0:0.0	.	234	Q9BTY2	FUCO2_HUMAN	Q	234	ENSP00000002165:P234Q	ENSP00000002165:P234Q	P	-	2	0	FUCA2	143866794	1.000000	0.71417	0.039000	0.18376	0.005000	0.04900	9.471000	0.97696	2.625000	0.88918	0.650000	0.86243	CCG	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub		0.453	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	G	NM_032020		143825101	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	missense	SNP	0.997	T	T	143825101	G	T	143825101	3	4	55	1	0	0	0	0	1	0	0	0	6113	1116	39	2	722	2	FUCA2	6	143825101	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	20505848	143825101	27289966	62	7410										
SYNE1	23345	genome.wustl.edu	37	chr6	152720920	152720920	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agattttcttgggtagagctGatgttgctttgttgactttg	12	4	1	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:152720920G>C	ENST00000367255.5	-	48	7669	c.7068C>G	c.(7066-7068)atC>atG	p.I2356M	SYNE1_ENST00000341594.5_Missense_Mutation_p.I2393M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I2363M|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.I2363M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I2356M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2356					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTAGAGCTGATGTTGCTTT	0.383										HNSCC(10;0.0054)																																							0													159	147	151					6																	152720920		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7068C>G	6.37:g.152720920G>C	ENSP00000356224:p.Ile2356Met		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I2356M	ENST00000367255.5	37	c.7068	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364724	0.24684	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	6.06	5.18	0.71444	.	0.000000	0.64402	D	0.000007	T	0.18002	0.0432	L	0.55834	1.745	0.80722	D	1	B;B;B;B	0.31318	0.044;0.319;0.319;0.134	B;B;B;B	0.26969	0.049;0.075;0.075;0.067	T	0.07214	-1.0784	10	0.48119	T	0.1	.	8.2156	0.31509	0.2316:0.0:0.7684:0.0	.	2339;2356;2356;2363	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	2356;2363;2356;2363;2393	ENSP00000356224:I2356M;ENSP00000396024:I2363M;ENSP00000265368:I2356M;ENSP00000390975:I2363M;ENSP00000341887:I2393M	ENSP00000265368:I2356M	I	-	3	3	SYNE1	152762613	1.000000	0.71417	0.997000	0.53966	0.135000	0.20990	1.553000	0.36255	2.882000	0.98803	0.655000	0.94253	ATC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152720920	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152720920	G	C	152720920	3	2	55	1	0	0	0	0	1	0	0	0	15475	1280	45	1	19794	1	SYNE1	6	152720920	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	8895819	152720920	18394147	63	7411										
CRHR2	1395	genome.wustl.edu	37	chr7	30721614	30721614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cagcgctgcggggccagcacGttccgatctggtccaaggtc	14	14	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:30721614G>A	ENST00000471646.1	-	2	563	c.146C>T	c.(145-147)aCg>aTg	p.T49M	CRHR2_ENST00000348438.4_Missense_Mutation_p.T76M|CRHR2_ENST00000506074.2_Missense_Mutation_p.T49M|CRHR2_ENST00000341843.4_Missense_Mutation_p.T35M	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	49					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCCAGCACGTTCCGATCTG	0.692																																																	0													31	28	29					7																	30721614		2200	4295	6495	SO:0001583	missense	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.146C>T	7.37:g.30721614G>A	ENSP00000418722:p.Thr49Met		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.T76M	ENST00000471646.1	37	c.227	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465095	0.84425	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.27	3.39	0.38822	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.80508	2.5	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.999	T	0.77313	-0.2634	10	0.48119	T	0.1	.	10.3538	0.43952	0.0974:0.0:0.9026:0.0	.	49;49;76;35;49	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	M	49;76;35;49	ENSP00000418722:T49M;ENSP00000340943:T76M;ENSP00000344304:T35M;ENSP00000426498:T49M	ENSP00000344304:T35M	T	-	2	0	CRHR2	30688139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.399000	0.90197	1.151000	0.42436	0.655000	0.94253	ACG	CRHR2	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.692	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	HGNC	protein_coding	OTTHUMT00000250448.3	G			30721614	-1	no_errors	ENST00000348438	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30721614	G	A	30721614	3	1	55	1	0	0	0	0	1	0	0	0	3877	1145	40	2	1133	2	CRHR2	7	30721614	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		30721614	128417049	64	7412										
DPY19L1	23333	genome.wustl.edu	37	chr7	35009108	35009108	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaaaatacattggaaatgcaGagtgcaatcaagcttcctct	7	8	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:35009108G>A	ENST00000310974.4	-	9	876	c.732C>T	c.(730-732)ctC>ctT	p.L244L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	244						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L244L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGAAATGCAGAGTGCAATCA	0.353																																																	1	Substitution - coding silent(1)	lung(1)											89	82	84					7																	35009108		1840	4099	5939	SO:0001819	synonymous_variant	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.732C>T	7.37:g.35009108G>A			O94954|Q4G151	Silent	SNP	pfam_Dpy-19	p.L244	ENST00000310974.4	37	c.732	CCDS43567.1	7																																																																																			DPY19L1	-	pfam_Dpy-19		0.353	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	G			35009108	-1	no_errors	ENST00000310974	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35009108	G	A	35009108	2	1	55	1	0	0	0	0	0	0	0	1	4750	929	33	1		1	DPY19L1	7	35009108	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	4287494	35009108	124129555	65	7413										
GLI3	2737	genome.wustl.edu	37	chr7	42006024	42006024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cacgttctgcggccggccctCggcctgtgacgcctcgctgg	14	17	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:42006024C>T	ENST00000395925.3	-	15	2731	c.2647G>A	c.(2647-2649)Gag>Aag	p.E883K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	883					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCCGGCCCTCGGCCTGTGAC	0.721									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													21	23	22					7																	42006024		2200	4294	6494	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2647G>A	7.37:g.42006024C>T	ENSP00000379258:p.Glu883Lys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E883K	ENST00000395925.3	37	c.2647	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385996	0.42308	.	.	ENSG00000106571	ENST00000395925	D	0.94280	-3.39	4.85	4.85	0.62838	.	0.096519	0.64402	D	0.000001	D	0.92143	0.7509	M	0.72479	2.2	0.80722	D	1	P	0.43542	0.81	B	0.37480	0.251	D	0.92385	0.5916	10	0.41790	T	0.15	.	17.9834	0.89148	0.0:1.0:0.0:0.0	.	883	P10071	GLI3_HUMAN	K	883	ENSP00000379258:E883K	ENSP00000379258:E883K	E	-	1	0	GLI3	41972549	1.000000	0.71417	0.990000	0.47175	0.859000	0.49053	7.389000	0.79806	2.214000	0.71695	0.462000	0.41574	GAG	GLI3	-	NULL		0.721	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42006024	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.999	T	T	42006024	C	T	42006024	3	4	55	1	0	0	0	0	1	0	0	0	6458	893	31	1	2099	1	GLI3	7	42006024	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	6996916	42006024	117132639	66	7414										
ZNF479	90827	genome.wustl.edu	37	chr7	57188193	57188193	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcttgtggtcagtgagggttGaggatacgctaaaggctttg	15	5	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:57188193G>C	ENST00000331162.4	-	5	1199	c.929C>G	c.(928-930)tCa>tGa	p.S310*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTGAGGGTTGAGGATACGCT	0.468																																																	0													18	18	18					7																	57188193		1886	4064	5950	SO:0001587	stop_gained	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.929C>G	7.37:g.57188193G>C	ENSP00000333776:p.Ser310*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S310*	ENST00000331162.4	37	c.929	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	17.44	3.390172	0.62066	.	.	ENSG00000185177	ENST00000331162	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.4806	0.27402	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000333776:S310X	S	-	2	0	ZNF479	57192135	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.134000	0.10436	0.453000	0.26858	0.456000	0.33151	TCA	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	G	XM_291202		57188193	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	nonsense	SNP	0.005	C	C	57188193	G	C	57188193	4	2	55	1	0	0	0	0	0	1	0	0	17963	1294	45	1	649	1	ZNF479	7	57188193	Nonsense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	15182169	57188193	101950470	67	7415										
POM121	9883	genome.wustl.edu	37	chr7	72416748	72416748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcgacagcgactgcaggcccGaaggcagcacacccgcaaaa	11	15	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:72416748G>A	ENST00000434423.2	+	13	3725	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q	POM121_ENST00000257622.4_Missense_Mutation_p.R977Q|POM121_ENST00000395270.1_Intron|POM121_ENST00000446813.1_Intron|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000358357.3_Missense_Mutation_p.R977Q			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1242	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGCAGGCCCGAAGGCAGCAC	0.582																																																	0													30	34	33					7																	72416748		2203	4296	6499	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3725G>A	7.37:g.72416748G>A	ENSP00000405562:p.Arg1242Gln		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.R1242Q	ENST00000434423.2	37	c.3725		7	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741224	0.49151	.	.	ENSG00000196313	ENST00000257622;ENST00000358357;ENST00000434423	T;T;T	0.39406	1.08;1.08;1.21	3.01	2.11	0.27256	.	.	.	.	.	T	0.52075	0.1712	M	0.73962	2.25	0.39006	D	0.959442	.	.	.	.	.	.	T	0.55891	-0.8069	7	0.87932	D	0	.	7.6895	0.28559	0.1257:0.0:0.8743:0.0	.	.	.	.	Q	977;977;1242	ENSP00000257622:R977Q;ENSP00000351124:R977Q;ENSP00000405562:R1242Q	ENSP00000257622:R977Q	R	+	2	0	POM121	72054684	1.000000	0.71417	0.998000	0.56505	0.095000	0.18619	6.922000	0.75811	0.593000	0.29745	-0.525000	0.04345	CGA	POM121	-	NULL		0.582	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	G			72416748	1	no_errors	ENST00000434423	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72416748	G	A	72416748	3	1	55	1	0	0	0	0	1	0	0	0	12263	1058	37	1	2976	1	POM121	7	72416748	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	15228555	72416748	86721915	68	7416										
CYP3A7	1551	genome.wustl.edu	37	chr7	99313407	99313407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agagaacgaatggatctaatGgattaaatcttaaaagcttc	8	5	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:99313407G>A	ENST00000336374.2	-	7	646	c.644C>T	c.(643-645)cCa>cTa	p.P215L	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	215					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGGATCTAATGGATTAAATCT	0.373																																																	0													177	173	175					7																	99313407		2203	4300	6503	SO:0001583	missense	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.644C>T	7.37:g.99313407G>A	ENSP00000337450:p.Pro215Leu		A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.P215L	ENST00000336374.2	37	c.644	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674312	0.14841	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.62364	0.03	4.09	2.8	0.32819	.	0.388426	0.32002	N	0.006724	T	0.31040	0.0784	N	0.03881	-0.34	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19516	-1.0303	10	0.09590	T	0.72	.	7.7661	0.28980	0.8917:0.0:0.1083:0.0	.	215	P24462	CP3A7_HUMAN	L	215	ENSP00000337450:P215L	ENSP00000292414:P215L	P	-	2	0	CYP3A7	99151343	0.141000	0.22595	0.001000	0.08648	0.000000	0.00434	4.095000	0.57728	0.515000	0.28320	-0.693000	0.03709	CCA	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.373	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	G			99313407	-1	no_errors	ENST00000336374	ensembl	human	known	70_37	missense	SNP	0.004	A	A	99313407	G	A	99313407	3	1	55	1	0	0	0	0	1	0	0	0	4186	1348	47	4	895	4	CYP3A7	7	99313407	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	26896659	99313407	59825256	69	7417										
GCC1	79571	genome.wustl.edu	37	chr7	127222899	127222899	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttgcttttgaggacaacctgGgctctcatcttgtacctctc	8	12	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:127222899G>T	ENST00000321407.2	-	2	1921	c.1497C>A	c.(1495-1497)gcC>gcA	p.A499A	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	499					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGACAACCTGGGCTCTCATCT	0.502																																																	0													105	95	98					7																	127222899		2203	4300	6503	SO:0001819	synonymous_variant	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1497C>A	7.37:g.127222899G>T			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.A499	ENST00000321407.2	37	c.1497	CCDS5796.1	7																																																																																			GCC1	-	NULL		0.502	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127222899	-1	no_errors	ENST00000321407	ensembl	human	known	70_37	silent	SNP	0.989	T	T	127222899	G	T	127222899	2	4	55	1	0	0	0	0	0	0	0	1	6304	1219	43	4		4	GCC1	7	127222899	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	27909492	127222899	31915764	70	7418										
CREB3L2	64764	genome.wustl.edu	37	chr7	137567265	137567265	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gactccagccctgacaccctGagcagggaggaacctctatc	10	15	1	2	rs370472182		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:137567265G>A	ENST00000330387.6	-	11	1731	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	460					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGACACCCTGAGCAGGGAGG	0.592			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													52	52	52					7																	137567265		2203	4300	6503	SO:0001819	synonymous_variant	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1380C>T	7.37:g.137567265G>A			Q6P454|Q6ZMR6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L460	ENST00000330387.6	37	c.1380	CCDS34760.1	7																																																																																			CREB3L2	-	NULL		0.592	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	G	NM_194071		137567265	-1	no_errors	ENST00000330387	ensembl	human	known	70_37	silent	SNP	0.229	A	A	137567265	G	A	137567265	2	1	55	1	0	0	0	0	0	0	0	1	3862	1277	45	1		1	CREB3L2	7	137567265	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	10344366	137567265	21571398	71	7419										
KIAA1549	57670	genome.wustl.edu	37	chr7	138566166	138566166	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cgaacattcttggaagggatCtttgacttggggcttggcac	13	8	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:138566166C>G	ENST00000422774.1	-	11	4245	c.4197G>C	c.(4195-4197)aaG>aaC	p.K1399N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.K1349N|KIAA1549_ENST00000440172.1_Missense_Mutation_p.K1399N			Q9HCM3	K1549_HUMAN	KIAA1549	1399						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGAAGGGATCTTTGACTTGG	0.478			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													145	149	147					7																	138566166		2009	4168	6177	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4197G>C	7.37:g.138566166C>G	ENSP00000416040:p.Lys1399Asn		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.K1399N	ENST00000422774.1	37	c.4197	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287135	0.59867	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27557	1.66;1.66;1.68	5.75	4.82	0.62117	.	0.095155	0.64402	D	0.000001	T	0.50103	0.1596	M	0.69823	2.125	0.49130	D	0.999754	D;P;D;P	0.61697	0.99;0.865;0.988;0.865	P;B;P;B	0.60886	0.88;0.301;0.81;0.301	T	0.42464	-0.9450	10	0.38643	T	0.18	.	15.0166	0.71591	0.0:0.8573:0.1427:0.0	.	1399;183;1399;183	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	N	1399;1349;1399	ENSP00000406661:K1399N;ENSP00000242365:K1349N;ENSP00000416040:K1399N	ENSP00000242365:K1349N	K	-	3	2	KIAA1549	138216706	0.969000	0.33509	0.528000	0.27938	0.721000	0.41392	2.269000	0.43346	2.716000	0.92895	0.655000	0.94253	AAG	KIAA1549	-	NULL		0.478	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	C			138566166	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	0.942	G	G	138566166	C	G	138566166	3	3	55	1	0	0	0	0	1	0	0	0	8264	912	32	1	1695	1	KIAA1549	7	138566166	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	998901	138566166	20572497	72	7420										
OR6B1	135946	genome.wustl.edu	37	chr7	143701561	143701561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttggctttggcatctccctgGcgaagatctacttcatctcc	8	13	4	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:143701561G>A	ENST00000408922.2	+	1	540	c.472G>A	c.(472-474)Gcg>Acg	p.A158T		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CATCTCCCTGGCGAAGATCTA	0.537																																																	0													85	85	85					7																	143701561		2118	4251	6369	SO:0001583	missense	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.472G>A	7.37:g.143701561G>A	ENSP00000386151:p.Ala158Thr		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A158T	ENST00000408922.2	37	c.472	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365026	0.41902	.	.	ENSG00000221813	ENST00000408922	T	0.37058	1.22	5.26	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.445102	0.16428	U	0.214877	T	0.21347	0.0514	N	0.05608	-0.01	0.26505	N	0.9747	B	0.12630	0.006	B	0.25987	0.065	T	0.18871	-1.0323	10	0.27082	T	0.32	.	11.7735	0.51972	0.0845:0.0:0.9155:0.0	.	158	O95007	OR6B1_HUMAN	T	158	ENSP00000386151:A158T	ENSP00000386151:A158T	A	+	1	0	OR6B1	143332494	0.000000	0.05858	0.978000	0.43139	0.908000	0.53690	0.437000	0.21543	1.457000	0.47850	0.655000	0.94253	GCG	OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	G			143701561	1	no_errors	ENST00000408922	ensembl	human	known	70_37	missense	SNP	0.583	A	A	143701561	G	A	143701561	3	1	55	1	0	0	0	0	1	0	0	0	11211	1203	42	4	474	4	OR6B1	7	143701561	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5135395	143701561	15437102	73	7421										
DLC1	10395	genome.wustl.edu	37	chr8	13356877	13356877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	taggggggtcaggtttccttCgttgctgagcaattacagca	13	8	1	1	rs140615088		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:13356877C>T	ENST00000276297.4	-	2	1113	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	DLC1_ENST00000316609.5_Missense_Mutation_p.R235Q|DLC1_ENST00000511869.1_Missense_Mutation_p.R235Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	235					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGTTTCCTTCGTTGCTGAGC	0.408																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	153	153	153		704,704	4	1	8	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DLC1	NM_024767.3,NM_182643.2	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	235/464,235/1529	13356877	2,13004	2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.704G>A	8.37:g.13356877C>T	ENSP00000276297:p.Arg235Gln		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.R235Q	ENST00000276297.4	37	c.704	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397063	0.62177	0.0	2.33E-4	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.13778	3.51;2.56;2.58	4.84	3.95	0.45737	.	0.000000	0.33199	N	0.005171	T	0.23965	0.0580	L	0.46157	1.445	0.26044	N	0.981568	D;D;P	0.76494	0.999;0.999;0.813	D;P;B	0.63192	0.912;0.836;0.181	T	0.02728	-1.1118	10	0.37606	T	0.19	.	9.6476	0.39877	0.1402:0.785:0.0:0.0749	.	235;235;235	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Q	235	ENSP00000276297:R235Q;ENSP00000321034:R235Q;ENSP00000425878:R235Q	ENSP00000276297:R235Q	R	-	2	0	DLC1	13401248	0.998000	0.40836	0.999000	0.59377	0.935000	0.57460	1.907000	0.39897	1.356000	0.45884	0.655000	0.94253	CGA	DLC1	-	NULL		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		13356877	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	missense	SNP	0.998	T	T	13356877	C	T	13356877	3	4	55	1	0	0	0	0	1	0	0	0	4560	884	31	1	4035	1	DLC1	8	13356877	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		13356877	133007145	74	7422										
CDCA2	157313	genome.wustl.edu	37	chr8	25341481	25341481	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcatttattgtctaattataGaagatgaagaaaattttgaa	6	2	2	5			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:25341481G>C	ENST00000330560.3	+	10	1597		c.e10-1		CDCA2_ENST00000380665.3_Splice_Site|CDCA2_ENST00000521098.2_Splice_Site	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2						mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTAATTATAGAAGATGAAGA	0.303																																																	0													30	33	32					8																	25341481		2199	4299	6498	SO:0001630	splice_region_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1121-1G>C	8.37:g.25341481G>C			Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Splice_Site	SNP	-	e9-1	ENST00000330560.3	37	c.1121-1	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	G	8.090	0.774328	0.16051	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	4.87	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7396	0.08524	0.0918:0.1637:0.5753:0.1692	.	.	.	.	.	-1	.	.	.	+	.	.	CDCA2	25397398	0.015000	0.18098	0.008000	0.14137	0.196000	0.23810	0.552000	0.23376	0.161000	0.19458	-0.127000	0.14921	.	CDCA2	-	-		0.303	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	G	NM_152562	Intron	25341481	1	no_errors	ENST00000330560	ensembl	human	known	70_37	splice_site	SNP	0.009	C	C	25341481	G	C	25341481	5	2	55	1	0	0	0	0	0	0	1	0	3091	956	33	1	1154	1	CDCA2	8	25341481	Splice_Site	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	11984604	25341481	121022541	75	7423										
ZNF395	55893	genome.wustl.edu	37	chr8	28218599	28218599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcccaacacccgggctcccaGgagggaccgctttccaaggc	11	17	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:28218599G>A	ENST00000344423.5	-	2	174	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	ZNF395_ENST00000523202.1_Silent_p.L15L|ZNF395_ENST00000523095.1_Silent_p.L15L	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CGGGCTCCCAGGAGGGACCGC	0.687																																																	0													26	29	28					8																	28218599		2190	4282	6472	SO:0001819	synonymous_variant	157574			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.43C>T	8.37:g.28218599G>A			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.P315L	ENST00000344423.5	37	c.944	CCDS6067.1	8																																																																																			FBXO16	-	NULL		0.687	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219976.1	G			28218599	-1	no_errors	ENST00000521548	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28218599	G	A	28218599	2	1	55	1	0	0	0	0	0	0	0	1	17911	991	35	4		4	ZNF395	8	28218599	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2877118	28218599	118145423	76	7424										
TTPA	7274	genome.wustl.edu	37	chr8	63973937	63973937	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tccagaggaagaatgtctggGaaatgctgaagcaagctttg	13	6	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:63973937G>A	ENST00000260116.4	-	5	742	c.711C>T	c.(709-711)ttC>ttT	p.F237F	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	237	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GAATGTCTGGGAAATGCTGAA	0.388																																																	0													106	106	106					8																	63973937		2203	4300	6503	SO:0001819	synonymous_variant	7274			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.711C>T	8.37:g.63973937G>A			Q71V64	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.F237	ENST00000260116.4	37	c.711	CCDS6178.1	8																																																																																			TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.388	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	G	NM_000370		63973937	-1	no_errors	ENST00000260116	ensembl	human	known	70_37	silent	SNP	0.990	A	A	63973937	G	A	63973937	2	1	55	1	0	0	0	0	0	0	0	1	16767	1165	41	1		1	TTPA	8	63973937	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	35755338	63973937	82390085	77	7425										
LRRCC1	85444	genome.wustl.edu	37	chr8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atcttctctagcccaaaatcGtggaaaattggaggctcaaa	8	9	3	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:86049720G>A	ENST00000360375.3	+	15	2500	c.2351G>A	c.(2350-2352)cGt>cAt	p.R784H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R764H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	784					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333																																																	0													76	74	75					8																	86049720		1813	4073	5886	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2351G>A	8.37:g.86049720G>A	ENSP00000353538:p.Arg784His		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.R784H	ENST00000360375.3	37	c.2351	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812762	0.50527	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.48522	0.81;0.82	5.89	1.9	0.25705	.	0.394312	0.18851	N	0.129413	T	0.31734	0.0806	L	0.37850	1.14	0.51767	D	0.99993	B;B;B;P	0.42757	0.078;0.066;0.131;0.789	B;B;B;B	0.32289	0.029;0.017;0.029;0.143	T	0.11891	-1.0569	10	0.66056	D	0.02	-0.9894	10.7016	0.45931	0.2746:0.0:0.7254:0.0	.	691;764;691;784	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	H	784;764	ENSP00000353538:R784H;ENSP00000394695:R764H	ENSP00000353538:R784H	R	+	2	0	LRRCC1	86236972	1.000000	0.71417	0.349000	0.25694	0.752000	0.42762	2.639000	0.46570	0.339000	0.23719	-0.157000	0.13467	CGT	LRRCC1	-	NULL		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	G	NM_033402		86049720	1	no_errors	ENST00000360375	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86049720	G	A	86049720	3	1	55	1	0	0	0	0	1	0	0	0	9049	1145	40	2	2409	2	LRRCC1	8	86049720	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	22075783	86049720	60314302	78	7426										
KIF24	347240	genome.wustl.edu	37	chr9	34257704	34257704	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	actcttgtgaaggactccctCtggagccaccccttttacca	7	15	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:34257704C>G	ENST00000402558.2	-	10	1925	c.1901G>C	c.(1900-1902)aGa>aCa	p.R634T	KIF24_ENST00000379166.2_Missense_Mutation_p.R634T|KIF24_ENST00000379174.3_Missense_Mutation_p.R500T|KIF24_ENST00000345050.2_Missense_Mutation_p.R500T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	634					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGGACTCCCTCTGGAGCCACC	0.532																																																	0													53	45	48					9																	34257704		2203	4300	6503	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1901G>C	9.37:g.34257704C>G	ENSP00000384433:p.Arg634Thr		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R634T	ENST00000402558.2	37	c.1901	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116132	0.37339	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.72942	-0.51;-0.7;-0.51;-0.7	5.31	0.664	0.17890	.	0.583908	0.14437	N	0.319609	T	0.56834	0.2012	L	0.60455	1.87	0.28634	N	0.907504	P	0.38922	0.651	B	0.32677	0.15	T	0.51076	-0.8751	10	0.40728	T	0.16	.	4.0554	0.09814	0.16:0.4204:0.0:0.4196	.	634	Q5T7B8	KIF24_HUMAN	T	634;500;634;500;634	ENSP00000384433:R634T;ENSP00000368472:R500T;ENSP00000368464:R634T;ENSP00000340179:R500T	ENSP00000340179:R500T	R	-	2	0	KIF24	34247704	0.995000	0.38212	0.883000	0.34634	0.363000	0.29612	0.182000	0.16900	0.207000	0.20607	0.655000	0.94253	AGA	KIF24	-	NULL		0.532	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	C			34257704	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	0.852	G	G	34257704	C	G	34257704	3	3	55	1	0	0	0	0	1	0	0	0	8312	913	32	1	2217	1	KIF24	9	34257704	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		34257704	106955727	79	7427										
IL11RA	3590	genome.wustl.edu	37	chr9	34656836	34656836	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tggcccaggcagacagcactGatgagggcacctacatctgc	12	13	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:34656836G>A	ENST00000555003.1	+	4	1618	c.262G>A	c.(262-264)Gat>Aat	p.D88N	IL11RA_ENST00000318041.9_Missense_Mutation_p.D88N|IL11RA_ENST00000441545.2_Missense_Mutation_p.D88N|GALT_ENST00000556278.1_Missense_Mutation_p.D232N|IL11RA_ENST00000378817.4_Missense_Mutation_p.D88N|IL11RA_ENST00000602473.1_Missense_Mutation_p.D88N|IL11RA_ENST00000478802.2_3'UTR			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	88	Ig-like C2-type.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGACAGCACTGATGAGGGCAC	0.622																																																	0													66	59	61					9																	34656836		2203	4300	6503	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.262G>A	9.37:g.34656836G>A	ENSP00000450565:p.Asp88Asn		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D88N	ENST00000555003.1	37	c.262	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878980	0.72294	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;D;T	0.86956	0.96;0.96;0.96;0.96;0.96;0.96;-2.19;0.96	5.34	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.939567	0.09182	N	0.837236	D	0.88422	0.6432	L	0.47716	1.5	0.31216	N	0.69811	D	0.62365	0.991	P	0.56088	0.791	T	0.80783	-0.1228	10	0.18276	T	0.48	-14.3012	11.8571	0.52444	0.0:0.1755:0.8245:0.0	.	88	Q14626	I11RA_HUMAN	N	232;88;88;88;88;88;88;88	ENSP00000451792:D232N;ENSP00000450565:D88N;ENSP00000394391:D88N;ENSP00000450543:D88N;ENSP00000368094:D88N;ENSP00000326500:D88N;ENSP00000451447:D88N;ENSP00000450640:D88N	ENSP00000326500:D88N	D	+	1	0	RP11-195F19.29;IL11RA	34646836	0.887000	0.30362	0.689000	0.30133	0.993000	0.82548	2.483000	0.45233	1.464000	0.47987	0.655000	0.94253	GAT	IL11RA	-	smart_Ig_sub,pfscan_Ig-like		0.622	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	G	NM_001142784		34656836	1	no_errors	ENST00000318041	ensembl	human	known	70_37	missense	SNP	0.823	A	A	34656836	G	A	34656836	3	1	55	1	0	0	0	0	1	0	0	0	7643	1290	45	1	272	1	IL11RA	9	34656836	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	399132	34656836	106556595	80	7428										
GRHPR	9380	genome.wustl.edu	37	chr9	37428495	37428495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cctcagtggtggctggacctCgtggaagcccctctggctgt	14	13	2	0	rs566239341		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:37428495C>T	ENST00000318158.6	+	5	504	c.419C>T	c.(418-420)tCg>tTg	p.S140L	GRHPR_ENST00000607784.1_Missense_Mutation_p.S140L|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	140					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGCTGGACCTCGTGGAAGCCC	0.667																																																	0													87	93	91					9																	37428495		2203	4300	6503	SO:0001583	missense	9380			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.419C>T	9.37:g.37428495C>T	ENSP00000313432:p.Ser140Leu		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420	p.S140L	ENST00000318158.6	37	c.419	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.458961	0.96240	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	T;T	0.77229	-1.08;-1.08	5.77	5.77	0.91146	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.291144	0.35585	N	0.003120	T	0.69106	0.3074	N	0.26130	0.795	0.58432	D	0.999998	P;B;B	0.43542	0.81;0.107;0.107	B;B;B	0.37731	0.257;0.087;0.087	T	0.71293	-0.4636	10	0.45353	T	0.12	-20.2702	20.0408	0.97588	0.0:1.0:0.0:0.0	.	140;140;140	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	L	140	ENSP00000367055:S140L;ENSP00000313432:S140L	ENSP00000313432:S140L	S	+	2	0	GRHPR	37418495	0.998000	0.40836	0.724000	0.30704	0.935000	0.57460	7.569000	0.82380	2.741000	0.93983	0.650000	0.86243	TCG	GRHPR	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	C	NM_012203		37428495	1	no_errors	ENST00000377824	ensembl	human	known	70_37	missense	SNP	0.996	T	T	37428495	C	T	37428495	3	4	55	1	0	0	0	0	1	0	0	0	6786	893	31	1	437	1	GRHPR	9	37428495	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	2771659	37428495	103784936	81	7429										
FAM108B1	51104	genome.wustl.edu	37	chr9	74485111	74485111	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	actctcatatcgagcagcaaGatccacagacggtactgtcc	8	13	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:74485111G>A	ENST00000333421.6	-	3	646	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.L179F	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	179						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CGAGCAGCAAGATCCACAGAC	0.423																																																	0													175	162	166					9																	74485111		2203	4300	6503	SO:0001583	missense	51104			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.535C>T	9.37:g.74485111G>A	ENSP00000330222:p.Leu179Phe		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.L179F	ENST00000333421.6	37	c.535	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189109	0.57909	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.50813	0.73;0.73	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.82092	-0.0628	10	0.87932	D	0	-7.3915	14.2777	0.66191	0.0718:0.0:0.9282:0.0	.	179;179	Q5VST6;Q5VST6-2	F108B_HUMAN;.	F	179	ENSP00000366240:L179F;ENSP00000330222:L179F	ENSP00000330222:L179F	L	-	1	0	FAM108B1	73674931	1.000000	0.71417	0.985000	0.45067	0.139000	0.21198	6.554000	0.73923	1.397000	0.46682	-0.136000	0.14681	CTT	FAM108B1	-	pfam_Peptidase_S9,pfam_Dienelactn_hydro		0.423	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM108B1	HGNC	protein_coding	OTTHUMT00000052625.1	G	NM_016014		74485111	-1	no_errors	ENST00000377041	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74485111	G	A	74485111	3	1	55	1	0	0	0	0	1	0	0	0	5407	942	33	1	370	1	FAM108B1	9	74485111	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	37056616	74485111	66728320	82	7430										
VPS13A	23230	genome.wustl.edu	37	chr9	79972637	79972637	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acccctactggtcataacatGaaaattctgcagccgcatgt	7	12	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:79972637G>T	ENST00000360280.3	+	56	8096	c.7836G>T	c.(7834-7836)atG>atT	p.M2612I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M2612I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2612I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2573I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2612					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCATAACATGAAAATTCTGC	0.333																																																	0													49	52	51					9																	79972637		2203	4299	6502	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7836G>T	9.37:g.79972637G>T	ENSP00000353422:p.Met2612Ile		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M2612I	ENST00000360280.3	37	c.7836	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044243	0.93685	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.52754	0.83;0.65;0.74;0.83	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.79926	2.475	0.80722	D	1	P;P;D;D	0.58970	0.863;0.944;0.984;0.984	P;P;P;P	0.59424	0.729;0.655;0.857;0.857	T	0.68550	-0.5379	9	.	.	.	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	2573;2612;2612;2612	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	2612;2573;2612;2612	ENSP00000365821:M2612I;ENSP00000365823:M2573I;ENSP00000353422:M2612I;ENSP00000349985:M2612I	.	M	+	3	0	VPS13A	79162457	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.775000	0.91772	2.835000	0.97688	0.650000	0.86243	ATG	VPS13A	-	NULL		0.333	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79972637	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79972637	G	T	79972637	3	4	55	1	0	0	0	0	1	0	0	0	17220	1290	45	3	8058	3	VPS13A	9	79972637	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5487526	79972637	61240794	83	7431										
OR1J2	26740	genome.wustl.edu	37	chr9	125273828	125273828	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cccatctctctgtggtgtctCtctattatgggtcaatattt	7	10	5	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:125273828C>T	ENST00000335302.5	+	1	748	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGTGGTGTCTCTCTATTATGG	0.488																																																	0													233	196	209					9																	125273828		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.748C>T	9.37:g.125273828C>T	ENSP00000335575:p.Leu250Phe		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L250F	ENST00000335302.5	37	c.748	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	12.02	1.814038	0.32053	.	.	ENSG00000197233	ENST00000335302	T	0.00293	8.26	4.37	0.33	0.15929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007930	T	0.00496	0.0016	M	0.84156	2.68	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.49194	-0.8965	10	0.87932	D	0	.	3.7404	0.08527	0.1701:0.3796:0.0:0.4502	.	250	Q8NGS2	OR1J2_HUMAN	F	250	ENSP00000335575:L250F	ENSP00000335575:L250F	L	+	1	0	OR1J2	124313649	0.000000	0.05858	0.130000	0.21974	0.351000	0.29236	-2.391000	0.01057	0.202000	0.20498	0.545000	0.68477	CTC	OR1J2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	C			125273828	1	no_errors	ENST00000335302	ensembl	human	known	70_37	missense	SNP	0.015	T	T	125273828	C	T	125273828	3	4	55	1	0	0	0	0	1	0	0	0	10984	913	32	1	750	1	OR1J2	9	125273828	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	45301191	125273828	15939603	84	7432										
GPR107	57720	genome.wustl.edu	37	chr9	132862907	132862907	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aatgcagttgtttgatttcaGattgactaccactacatctc	6	9	2	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:132862907G>A	ENST00000372406.1	+	11	1446		c.e11-1		GPR107_ENST00000347136.6_Splice_Site|GPR107_ENST00000372410.3_Splice_Site	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTTGATTTCAGATTGACTACC	0.408																																																	0													160	139	146					9																	132862907		2203	4300	6503	SO:0001630	splice_region_variant	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.940-1G>A	9.37:g.132862907G>A			A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	-	e11-1	ENST00000372406.1	37	c.940-1	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821535	0.90873	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3467	0.90325	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR107	131902728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.045000	0.93812	2.665000	0.90641	0.591000	0.81541	.	GPR107	-	-		0.408	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	G		Intron	132862907	1	no_errors	ENST00000372406	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	132862907	G	A	132862907	5	1	55	1	0	0	0	0	0	0	1	0	6642	956	33	1	981	1	GPR107	9	132862907	Splice_Site	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	7589079	132862907	8350524	85	7433										
SURF6	6838	genome.wustl.edu	37	chr9	136201270	136201270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggaagcccaagctgcttcctCtttggctgcctcaggcctcc	10	16	2	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:136201270C>G	ENST00000372022.4	-	2	527	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	SURF6_ENST00000468290.1_5'Flank	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	88					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCTGCTTCCTCTTTGGCTGCC	0.627																																																	0													56	58	57					9																	136201270		2203	4300	6503	SO:0001583	missense	6838			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.262G>C	9.37:g.136201270C>G	ENSP00000361092:p.Glu88Gln		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.E88Q	ENST00000372022.4	37	c.262	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593154	0.13875	.	.	ENSG00000148296	ENST00000372022	T	0.15139	2.45	4.09	-0.872	0.10638	.	0.577619	0.17517	N	0.171418	T	0.06371	0.0164	N	0.11201	0.11	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.38929	-0.9638	10	0.15952	T	0.53	-13.9254	5.3423	0.15990	0.0:0.2936:0.4864:0.22	.	88	O75683	SURF6_HUMAN	Q	88	ENSP00000361092:E88Q	ENSP00000361092:E88Q	E	-	1	0	SURF6	135191091	0.000000	0.05858	0.000000	0.03702	0.349000	0.29174	-0.476000	0.06591	-0.045000	0.13468	0.514000	0.50259	GAG	SURF6	-	NULL		0.627	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	C	NM_006753		136201270	-1	no_errors	ENST00000372022	ensembl	human	known	70_37	missense	SNP	0.001	G	G	136201270	C	G	136201270	3	3	55	1	0	0	0	0	1	0	0	0	15436	922	32	1	839	1	SURF6	9	136201270	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	3338363	136201270	5012161	86	7434										
LARP4B	23185	genome.wustl.edu	37	chr10	909788	909788	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtctggcaatgcggcattctCatggccctggtcaccatcac	10	14	4	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:909788C>A	ENST00000316157.3	-	4	365	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	109					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GCGGCATTCTCATGGCCCTGG	0.502																																																	0													98	94	96					10																	909788		2203	4300	6503	SO:0001587	stop_gained	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.325G>T	10.37:g.909788C>A	ENSP00000326128:p.Glu109*		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.E109*	ENST00000316157.3	37	c.325	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777915	0.31502	.	.	ENSG00000107929	ENST00000316157;ENST00000406525	.	.	.	5.42	4.49	0.54785	.	0.720233	0.14714	N	0.302754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.4634	12.5876	0.56426	0.0:0.5833:0.4167:0.0	.	.	.	.	X	109	.	ENSP00000326128:E109X	E	-	1	0	LARP4B	899788	1.000000	0.71417	0.877000	0.34402	0.010000	0.07245	3.936000	0.56568	2.500000	0.84329	0.655000	0.94253	GAG	LARP4B	-	NULL		0.502	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	C	NM_015155		909788	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	nonsense	SNP	0.926	A	A	909788	C	A	909788	4	1	55	1	0	0	0	0	0	1	0	0	8651	835	29	3	1947	3	LARP4B	10	909788	Nonsense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		909788	134624959	87	7435										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24889722	24889722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcactgtaagagatgtctatCaagcaagcattaacactgat	7	8	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:24889722C>G	ENST00000396432.2	-	14	3471	c.2985G>C	c.(2983-2985)ttG>ttC	p.L995F	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.L782F	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	994	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGATGTCTATCAAGCAAGCAT	0.458																																																	0													95	92	93					10																	24889722		2202	4281	6483	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2985G>C	10.37:g.24889722C>G	ENSP00000379709:p.Leu995Phe		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.L995F	ENST00000396432.2	37	c.2985	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650957	0.67472	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.67	-5.48	0.02592	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.75884	2.315	0.46167	D	0.998903	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.78645	-0.2123	10	0.72032	D	0.01	.	8.4786	0.33030	0.0:0.1499:0.4107:0.4394	.	985;994	F8W9U9;Q5T5U3	.;RHG21_HUMAN	F	995;782;985;995;830	ENSP00000379709:L995F;ENSP00000365604:L782F;ENSP00000365592:L985F;ENSP00000405018:L995F	ENSP00000365604:L782F	L	-	3	2	ARHGAP21	24929728	0.272000	0.24172	0.651000	0.29564	0.981000	0.71138	-0.267000	0.08619	-1.500000	0.01819	-0.136000	0.14681	TTG	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24889722	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	0.795	G	G	24889722	C	G	24889722	3	3	55	1	0	0	0	0	1	0	0	0	871	825	29	1	2943	1	ARHGAP21	10	24889722	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	23979934	24889722	110645025	88	7436										
SHOC2	8036	genome.wustl.edu	37	chr10	112771399	112771399	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aacctagaagaactgtatttGaatgacaaccccaacctgca	6	11	0	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:112771399G>A	ENST00000369452.4	+	9	1917	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	SHOC2_ENST00000265277.5_Silent_p.L478L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	524					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTGTATTTGAATGACAACC	0.378																																																	0													123	119	120					10																	112771399		2203	4300	6503	SO:0001819	synonymous_variant	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1572G>A	10.37:g.112771399G>A			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L524	ENST00000369452.4	37	c.1572	CCDS7568.1	10																																																																																			SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.378	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	G	NM_007373		112771399	1	no_errors	ENST00000369452	ensembl	human	known	70_37	silent	SNP	1.000	A	A	112771399	G	A	112771399	2	1	55	1	0	0	0	0	0	0	0	1	14317	1281	45	1		1	SHOC2	10	112771399	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	87881677	112771399	22763348	89	7437										
DCLRE1A	9937	genome.wustl.edu	37	chr10	115610108	115610108	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agagcttgttgggatgtttgGatatgagtagaaatcttttc	12	3	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:115610108G>C	ENST00000361384.2	-	2	1673	c.756C>G	c.(754-756)atC>atG	p.I252M	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I252M|DCLRE1A_ENST00000476112.1_5'Flank	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	252					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGGATGTTTGGATATGAGTAG	0.363								Other identified genes with known or suspected DNA repair function																																									0													79	81	80					10																	115610108		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.756C>G	10.37:g.115610108G>C	ENSP00000355185:p.Ile252Met		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.I252M	ENST00000361384.2	37	c.756	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437946	0.12104	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.64991	-0.13;-0.13	5.74	1.18	0.20946	.	2.104430	0.01450	N	0.015447	T	0.57917	0.2086	L	0.51422	1.61	0.09310	N	1	P	0.41265	0.744	B	0.39027	0.288	T	0.44483	-0.9325	10	0.33940	T	0.23	4.5456	7.8909	0.29677	0.5744:0.0:0.4256:0.0	.	252	Q6PJP8	DCR1A_HUMAN	M	252	ENSP00000355185:I252M;ENSP00000358311:I252M	ENSP00000355185:I252M	I	-	3	3	DCLRE1A	115600098	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	0.441000	0.21611	0.152000	0.19188	0.644000	0.83932	ATC	DCLRE1A	-	NULL		0.363	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	G	NM_014881		115610108	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	missense	SNP	0.000	C	C	115610108	G	C	115610108	3	2	55	1	0	0	0	0	1	0	0	0	4299	1164	41	1	2398	1	DCLRE1A	10	115610108	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2838709	115610108	19924639	90	7438										
RNH1	6050	genome.wustl.edu	37	chr11	494945	494945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	accagctgcaggatgccggcGtcccccaggcagttgttgct	13	14	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:494945G>A	ENST00000534797.1	-	8	2643	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	RNH1_ENST00000397614.1_Silent_p.D412D|RNH1_ENST00000533410.1_Silent_p.D412D|RNH1_ENST00000354420.2_Silent_p.D412D|RNH1_ENST00000397604.3_Silent_p.D412D|RNH1_ENST00000397615.2_Silent_p.D412D|RNH1_ENST00000438658.2_Silent_p.D412D|RNH1_ENST00000356187.5_Silent_p.D412D			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGCCGGCGTCCCCCAGGC	0.682																																																	0													26	28	27					11																	494945		2201	4300	6501	SO:0001819	synonymous_variant	6050				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1236C>T	11.37:g.494945G>A			B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.D412	ENST00000534797.1	37	c.1236	CCDS7697.1	11																																																																																			RNH1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.682	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1	G	NM_203389		494945	-1	no_errors	ENST00000354420	ensembl	human	known	70_37	silent	SNP	0.003	A	A	494945	G	A	494945	2	1	55	1	0	0	0	0	0	0	0	1	13534	1136	40	2		2	RNH1	11	494945	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		494945	134511571	91	7439										
OSBPL5	114879	genome.wustl.edu	37	chr11	3114255	3114255	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctgtgctggtcgcccttgctGatggccctggtgacgtgctg	15	12	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:3114255G>C	ENST00000263650.7	-	18	2133	c.1974C>G	c.(1972-1974)atC>atG	p.I658M	OSBPL5_ENST00000542243.1_Missense_Mutation_p.I289M|OSBPL5_ENST00000389989.3_Missense_Mutation_p.I590M|OSBPL5_ENST00000348039.5_Missense_Mutation_p.I590M|OSBPL5_ENST00000478260.1_Missense_Mutation_p.I112M|OSBPL5_ENST00000525498.1_Missense_Mutation_p.I569M	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	658					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGCCCTTGCTGATGGCCCTGG	0.687																																																	0													38	31	34					11																	3114255		2201	4296	6497	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1974C>G	11.37:g.3114255G>C	ENSP00000263650:p.Ile658Met		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I658M	ENST00000263650.7	37	c.1974	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426108	0.43020	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.38	3.47	0.39725	.	0.067090	0.64402	D	0.000020	T	0.47248	0.1435	M	0.64676	1.99	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.44345	-0.9334	10	0.87932	D	0	4.6685	6.6924	0.23181	0.0888:0.0:0.6309:0.2803	.	569;590;658	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	M	112;658;590;211;569;289;590;277	ENSP00000437141:I112M;ENSP00000263650:I658M;ENSP00000374639:I590M;ENSP00000431412:I211M;ENSP00000433342:I569M;ENSP00000441551:I289M;ENSP00000302872:I590M	ENSP00000263650:I658M	I	-	3	3	OSBPL5	3070831	0.986000	0.35501	0.783000	0.31826	0.326000	0.28443	1.933000	0.40153	1.069000	0.40788	0.561000	0.74099	ATC	OSBPL5	-	pfam_Oxysterol-bd		0.687	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	G			3114255	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	0.860	C	C	3114255	G	C	3114255	3	2	55	1	0	0	0	0	1	0	0	0	11304	1280	45	1	685	1	OSBPL5	11	3114255	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2619310	3114255	131892261	92	7440										
OR52A1	23538	genome.wustl.edu	37	chr11	5173437	5173437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	caagggctcatggagactgcGctcagatttgatgatgctca	12	9	3	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:5173437G>A	ENST00000380367.1	-	2	580	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R55C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	55					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGACTGCGCTCAGATTTG	0.443																																																	0													78	74	75					11																	5173437		2201	4297	6498	SO:0001583	missense	23538			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.163C>T	11.37:g.5173437G>A	ENSP00000369725:p.Arg55Cys		Q6IF31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R55C	ENST00000380367.1	37	c.163	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	G	9.772	1.172992	0.21704	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03035	4.07;4.07	5.37	0.0203	0.14124	GPCR, rhodopsin-like superfamily (1);	1.082370	0.07134	N	0.846087	T	0.08358	0.0208	M	0.79693	2.465	0.09310	N	1	D	0.65815	0.995	P	0.48571	0.582	T	0.27806	-1.0063	10	0.66056	D	0.02	.	1.7069	0.02884	0.183:0.1127:0.3533:0.351	.	55	Q9UKL2	O52A1_HUMAN	C	55	ENSP00000369725:R55C;ENSP00000333684:R55C	ENSP00000333684:R55C	R	-	1	0	OR52A1	5130013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.283000	0.08433	0.097000	0.17492	-0.795000	0.03280	CGC	OR52A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	G	NM_012375		5173437	-1	no_errors	ENST00000328942	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5173437	G	A	5173437	3	1	55	1	0	0	0	0	1	0	0	0	11132	1087	38	2	777	2	OR52A1	11	5173437	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2059182	5173437	129833079	93	7441										
OR52L1	338751	genome.wustl.edu	37	chr11	6007924	6007924	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcagctagcatggacaggaaGaggtacatagattggtgcaa	14	6	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:6007924G>C	ENST00000332249.4	-	1	291	c.237C>G	c.(235-237)ctC>ctG	p.L79L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGACAGGAAGAGGTACATAG	0.537																																					Melanoma(121;653 1666 10547 22796 51255)												0													81	83	83					11																	6007924		2094	4238	6332	SO:0001819	synonymous_variant	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.237C>G	11.37:g.6007924G>C			B2RPA6|Q6IFK9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L79	ENST00000332249.4	37	c.237	CCDS44529.1	11																																																																																			OR52L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	G	NM_001005173		6007924	-1	no_errors	ENST00000332249	ensembl	human	known	70_37	silent	SNP	0.551	C	C	6007924	G	C	6007924	2	2	55	1	0	0	0	0	0	0	0	1	11149	929	33	1		1	OR52L1	11	6007924	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	834487	6007924	128998592	94	7442										
CCKBR	887	genome.wustl.edu	37	chr11	6291485	6291485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tactcatggtgccctaccccGtgtacactgtcgtgcaacca	8	15	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:6291485G>A	ENST00000334619.2	+	3	764	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	CCKBR_ENST00000525462.1_Missense_Mutation_p.V191M|CCKBR_ENST00000532715.1_Missense_Mutation_p.V107M|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	191					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCCTACCCCGTGTACACTGT	0.657																																																	0													65	57	60					11																	6291485		2201	4296	6497	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.571G>A	11.37:g.6291485G>A	ENSP00000335544:p.Val191Met		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V191M	ENST00000334619.2	37	c.571	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507283	0.64410	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72505	-0.66;-0.66;-0.66	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.073509	0.53938	D	0.000046	T	0.80576	0.4649	M	0.67569	2.06	0.32873	D	0.509486	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.77557	0.969;0.894;0.99	D	0.84913	0.0849	10	0.87932	D	0	.	10.2312	0.43256	0.0916:0.0:0.9084:0.0	.	191;125;191	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	M	191;107;191	ENSP00000335544:V191M;ENSP00000432079:V107M;ENSP00000435534:V191M	ENSP00000335544:V191M	V	+	1	0	CCKBR	6248061	0.458000	0.25760	0.968000	0.41197	0.879000	0.50718	0.672000	0.25187	2.505000	0.84491	0.655000	0.94253	GTG	CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_GPCR_Rhodpsn		0.657	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	G	NM_176875		6291485	1	no_errors	ENST00000525462	ensembl	human	known	70_37	missense	SNP	0.928	A	A	6291485	G	A	6291485	3	1	55	1	0	0	0	0	1	0	0	0	2886	1145	40	2	581	2	CCKBR	11	6291485	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	283561	6291485	128715031	95	7443										
DCHS1	8642	genome.wustl.edu	37	chr11	6661921	6661921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgcagcagccccgtgtgtgcGtcgatggagaagggtccatc	15	11	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:6661921G>A	ENST00000299441.3	-	2	1335	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGTGTGTGCGTCGATGGAGA	0.607																																																	0													105	94	98					11																	6661921		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.924C>T	11.37:g.6661921G>A			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D308	ENST00000299441.3	37	c.924	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6661921	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.044	A	A	6661921	G	A	6661921	2	1	55	1	0	0	0	0	0	0	0	1	4292	1136	40	2		2	DCHS1	11	6661921	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	370436	6661921	128344595	96	7444										
MADD	8567	genome.wustl.edu	37	chr11	47297739	47297739	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tccaggtgctaacctgcattCtgttagagcacaaggtgaga	11	9	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:47297739C>T	ENST00000311027.5	+	4	1114	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	MADD_ENST00000407859.3_Silent_p.L317L|MADD_ENST00000349238.3_Silent_p.L317L|MADD_ENST00000395344.3_Silent_p.L317L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000406482.1_Silent_p.L317L|MADD_ENST00000395336.3_Silent_p.L317L|MADD_ENST00000342922.4_Silent_p.L317L|MADD_ENST00000402192.2_Silent_p.L317L|MADD_ENST00000402799.1_Silent_p.L317L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AACCTGCATTCTGTTAGAGCA	0.517																																																	0													64	58	60					11																	47297739		2201	4298	6499	SO:0001819	synonymous_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.949C>T	11.37:g.47297739C>T				Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L317	ENST00000311027.5	37	c.949	CCDS7930.1	11																																																																																			MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.517	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	C			47297739	1	no_errors	ENST00000311027	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47297739	C	T	47297739	2	4	55	1	0	0	0	0	0	0	0	1	9175	912	32	1		1	MADD	11	47297739	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	40635818	47297739	87708777	97	7445										
MS4A14	84689	genome.wustl.edu	37	chr11	60183299	60183299	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	caatctgctattgtacaaccTtctcaaatgcaaaccaagct	4	12	2	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:60183299T>A	ENST00000300187.6	+	5	1135	c.858T>A	c.(856-858)ccT>ccA	p.P286P	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Silent_p.P174P|MS4A14_ENST00000531783.1_Silent_p.P319P|MS4A14_ENST00000395005.2_Silent_p.P269P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	286						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTGTACAACCTTCTCAAATGC	0.398																																																	0													58	55	56					11																	60183299		2203	4300	6503	SO:0001819	synonymous_variant	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.858T>A	11.37:g.60183299T>A			E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	pfam_CD20-like	p.P286	ENST00000300187.6	37	c.858	CCDS31569.1	11																																																																																			MS4A14	-	NULL		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	T			60183299	1	no_errors	ENST00000300187	ensembl	human	known	70_37	silent	SNP	0.000	A	A	60183299	T	A	60183299	2	1	55	1	0	0	0	0	0	0	0	1	9881	1596	56	5		5	MS4A14	11	60183299	Silent	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	12885560	60183299	74823217	98	7446										
DPP3	10072	genome.wustl.edu	37	chr11	66264946	66264946	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agcgcttcctgcggagacttCaggtaagcaaaggcctctcg	12	12	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:66264946C>T	ENST00000360510.2	+	16	1941	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q626*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q645*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q596*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q626*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q646*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	626					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCGGAGACTTCAGGTAAGCAA	0.607																																																	0													29	28	28					11																	66264946		2200	4292	6492	SO:0001587	stop_gained	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1876C>T	11.37:g.66264946C>T	ENSP00000353701:p.Gln626*		B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	pirsf_Dipeptidyl-peptase3	p.Q626*	ENST00000360510.2	37	c.1876	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.621848	0.97714	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	.	.	.	X	646;645;626;626;626;596;524;206	.	ENSP00000309957:Q206X	Q	+	1	0	DPP3	66021522	1.000000	0.71417	0.993000	0.49108	0.630000	0.37929	6.882000	0.75589	2.824000	0.97209	0.655000	0.94253	CAG	DPP3	-	pirsf_Dipeptidyl-peptase3		0.607	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2	C			66264946	1	no_errors	ENST00000360510	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	66264946	C	T	66264946	4	4	55	1	0	0	0	0	0	1	0	0	4738	827	29	1	1934	1	DPP3	11	66264946	Nonsense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	6081647	66264946	68741570	99	7447										
MRGPRD	116512	genome.wustl.edu	37	chr11	68747955	68747955	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cgatcttcattgaatttcaaGaacttgctgcagaaggaaga	9	7	3	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:68747955G>C	ENST00000309106.3	-	1	500	c.501C>G	c.(499-501)ttC>ttG	p.F167L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	167						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGAATTTCAAGAACTTGCTGC	0.572																																																	0													63	53	56					11																	68747955		2200	4294	6494	SO:0001583	missense	116512			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.501C>G	11.37:g.68747955G>C	ENSP00000310631:p.Phe167Leu		Q8NGK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F167L	ENST00000309106.3	37	c.501	CCDS31625.1	11	.	.	.	.	.	.	.	.	.	.	G	8.338	0.827980	0.16749	.	.	ENSG00000172938	ENST00000309106	T	0.71341	-0.56	4.08	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	1.017260	0.07912	U	0.974381	T	0.41328	0.1154	N	0.04373	-0.215	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.35748	-0.9776	10	0.05959	T	0.93	-2.5028	3.2942	0.06960	0.236:0.0:0.5601:0.2039	.	167	Q8TDS7	MRGRD_HUMAN	L	167	ENSP00000310631:F167L	ENSP00000310631:F167L	F	-	3	2	MRGPRD	68504531	0.748000	0.28294	0.000000	0.03702	0.025000	0.11179	1.664000	0.37439	0.244000	0.21351	0.305000	0.20034	TTC	MRGPRD	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.572	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRD	HGNC	protein_coding	OTTHUMT00000396874.1	G	NM_198923		68747955	-1	no_errors	ENST00000309106	ensembl	human	known	70_37	missense	SNP	0.000	C	C	68747955	G	C	68747955	3	2	55	1	0	0	0	0	1	0	0	0	9786	933	33	1	467	1	MRGPRD	11	68747955	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2483009	68747955	66258561	100	7448										
DSCAML1	57453	genome.wustl.edu	37	chr11	117392107	117392107	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agcttctttggtgtcagggtCacatgaaggggatctgggcc	15	8	4	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:117392107C>T	ENST00000321322.6	-	6	1132	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	DSCAML1_ENST00000527706.1_Silent_p.V107V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	317	Ig-like C2-type 4.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGTCAGGGTCACATGAAGGG	0.592																																																	0													28	28	28					11																	117392107		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1131G>A	11.37:g.117392107C>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V377	ENST00000321322.6	37	c.1131	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Ig_I-set,pfscan_Ig-like		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117392107	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	silent	SNP	1.000	T	T	117392107	C	T	117392107	2	4	55	1	0	0	0	0	0	0	0	1	4779	813	29	1		1	DSCAML1	11	117392107	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	48644152	117392107	17614409	101	7449										
BCL9L	283149	genome.wustl.edu	37	chr11	118772555	118772555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccagcccatgcctggtctcaCgggcctctgcatggcattca	10	16	3	0	rs34337307	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:118772555C>T	ENST00000334801.3	-	6	2861	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	633					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCTGGTCTCACGGGCCTCTGC	0.622													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19410	0		0	False		,,,				2504	0																0								C	MET/VAL	9,4391	15.5+/-35.6	0,9,2191	45	45	45		1897	4.6	1	11	dbSNP_126	45	0,8590		0,0,4295	yes	missense	BCL9L	NM_182557.2	21	0,9,6486	TT,TC,CC		0.0,0.2045,0.0693	possibly-damaging	633/1500	118772555	9,12981	2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1897G>A	11.37:g.118772555C>T	ENSP00000335320:p.Val633Met		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.V633M	ENST00000334801.3	37	c.1897	CCDS8403.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.97	1.796658	0.31777	0.002045	0.0	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.64991	-0.13	4.59	4.59	0.56863	.	0.000000	0.39475	N	0.001357	T	0.63486	0.2515	L	0.36672	1.1	0.27335	N	0.956655	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.61048	-0.7141	10	0.59425	D	0.04	-22.5868	15.329	0.74190	0.0:1.0:0.0:0.0	rs34337307	628;633	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	M	633;596;633;633	ENSP00000335320:V633M	ENSP00000335320:V633M	V	-	1	0	BCL9L	118277765	0.837000	0.29446	0.999000	0.59377	0.510000	0.34073	1.616000	0.36933	2.377000	0.81083	0.313000	0.20887	GTG	BCL9L	-	NULL		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	C	NM_182557		118772555	-1	no_errors	ENST00000334801	ensembl	human	known	70_37	missense	SNP	0.795	T	T	118772555	C	T	118772555	3	4	55	1	0	0	0	0	1	0	0	0	1383	536	19	2	2614	2	BCL9L	11	118772555	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1380448	118772555	16233961	102	7450										
OR8B12	219858	genome.wustl.edu	37	chr11	124413323	124413323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctcatcagcattttgggagtGatggtagtggagaaacagaa	13	5	2	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:124413323G>C	ENST00000306842.2	-	1	252	c.228C>G	c.(226-228)atC>atG	p.I76M		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTGGGAGTGATGGTAGTGG	0.428																																																	0													83	81	82					11																	124413323		2201	4299	6500	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.228C>G	11.37:g.124413323G>C	ENSP00000307159:p.Ile76Met		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I76M	ENST00000306842.2	37	c.228	CCDS31711.1	11	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006280	0.19199	.	.	ENSG00000170953	ENST00000306842	T	0.01145	5.27	3.77	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.107156	0.41605	D	0.000848	T	0.02807	0.0084	M	0.76170	2.325	0.09310	N	1	P	0.49358	0.923	P	0.52710	0.707	T	0.34403	-0.9830	10	0.87932	D	0	.	3.127	0.06411	0.3074:0.0:0.504:0.1886	.	76	Q8NGG6	OR8BC_HUMAN	M	76	ENSP00000307159:I76M	ENSP00000307159:I76M	I	-	3	3	OR8B12	123918533	0.000000	0.05858	0.852000	0.33557	0.366000	0.29705	-1.601000	0.02081	0.573000	0.29400	-0.157000	0.13467	ATC	OR8B12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	HGNC	protein_coding	OTTHUMT00000387061.1	G			124413323	-1	no_errors	ENST00000306842	ensembl	human	known	70_37	missense	SNP	0.005	C	C	124413323	G	C	124413323	3	2	55	1	0	0	0	0	1	0	0	0	11250	1280	45	1	706	1	OR8B12	11	124413323	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5640768	124413323	10593193	103	7451										
HEPN1	641654	genome.wustl.edu	37	chr11	124789809	124789809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttttaattgccctctctcctCacacagtagattactgccac	4	14	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:124789809C>T	ENST00000408930.5	+	1	664	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	55						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		CCTCTCTCCTCACACAGTAGA	0.498																																																	0													89	90	89					11																	124789809		1912	4143	6055	SO:0001583	missense	641654			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.163C>T	11.37:g.124789809C>T	ENSP00000386143:p.His55Tyr			Missense_Mutation	SNP	NULL	p.H55Y	ENST00000408930.5	37	c.163	CCDS41729.1	11	.	.	.	.	.	.	.	.	.	.	C	5.272	0.235527	0.10023	.	.	ENSG00000221932	ENST00000408930	T	0.53640	0.61	4.51	0.66	0.17868	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27571	-1.0070	8	0.87932	D	0	.	5.8956	0.18937	0.0:0.5851:0.1505:0.2645	.	55	Q6WQI6	HEPN1_HUMAN	Y	55	ENSP00000386143:H55Y	ENSP00000386143:H55Y	H	+	1	0	HEPN1	124295019	0.024000	0.19004	0.000000	0.03702	0.071000	0.16799	0.046000	0.14035	-0.405000	0.07599	-1.946000	0.00489	CAC	HEPN1	-	NULL		0.498	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPN1	HGNC	protein_coding	OTTHUMT00000387129.1	C	NM_001037558		124789809	1	no_errors	ENST00000408930	ensembl	human	known	70_37	missense	SNP	0.019	T	T	124789809	C	T	124789809	3	4	55	1	0	0	0	0	1	0	0	0	7076	826	29	1	165	1	HEPN1	11	124789809	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	376486	124789809	10216707	104	7452										
NTM	50863	genome.wustl.edu	37	chr11	132081971	132081971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tccattaatgaagggaacaaTattagcctcacctgcatagc	7	10	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:132081971T>C	ENST00000374786.1	+	3	935	c.456T>C	c.(454-456)aaT>aaC	p.N152N	NTM_ENST00000425719.2_Silent_p.N152N|NTM_ENST00000427481.2_Silent_p.N143N|NTM_ENST00000374784.1_Silent_p.N152N|NTM_ENST00000374791.3_Silent_p.N152N|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.N152N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	152	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AAGGGAACAATATTAGCCTCA	0.393																																																	0													115	113	113					11																	132081971		2201	4297	6498	SO:0001819	synonymous_variant	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.456T>C	11.37:g.132081971T>C			A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N152	ENST00000374786.1	37	c.456	CCDS8491.1	11																																																																																			NTM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	T	NM_016522		132081971	1	no_errors	ENST00000539799	ensembl	human	known	70_37	silent	SNP	0.963	C	C	132081971	T	C	132081971	2	2	55	1	0	0	0	0	0	0	0	1	10723	1403	49	5		5	NTM	11	132081971	Silent	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	7292162	132081971	2924545	105	7453										
KDM5A	5927	genome.wustl.edu	37	chr12	416705	416705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gagccgcctgttccaccataCgctggctcaacacagatagt	9	14	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:416705C>T	ENST00000399788.2	-	23	4207	c.3845G>A	c.(3844-3846)cGt>cAt	p.R1282H	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1282H	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1282					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTCCACCATACGCTGGCTCAA	0.488			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													97	95	95					12																	416705		2000	4184	6184	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3845G>A	12.37:g.416705C>T	ENSP00000382688:p.Arg1282His		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R1282H	ENST00000399788.2	37	c.3845	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.243929	0.95272	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85702	-2.02;-1.83	5.66	5.66	0.87406	.	0.101033	0.64402	D	0.000001	D	0.89255	0.6663	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74348	0.962;0.983	D	0.89858	0.4014	10	0.87932	D	0	-13.3103	20.0973	0.97856	0.0:1.0:0.0:0.0	.	1282;1282	P29375;P29375-2	KDM5A_HUMAN;.	H	1282	ENSP00000382688:R1282H;ENSP00000372265:R1282H	ENSP00000372265:R1282H	R	-	2	0	KDM5A	286966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.830000	0.97506	0.585000	0.79938	CGT	KDM5A	-	NULL		0.488	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		416705	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	416705	C	T	416705	3	4	55	1	0	0	0	0	1	0	0	0	8153	536	19	2	1251	2	KDM5A	12	416705	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		416705	133435190	106	7454										
ADIPOR2	79602	genome.wustl.edu	37	chr12	1882007	1882007	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtttctgtgattgccttgcaGagctctgaggaacatgaata	11	7	2	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:1882007G>A	ENST00000357103.4	+	3	422		c.e3-1			NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2						adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TTGCCTTGCAGAGCTCTGAGG	0.428																																																	0													102	102	102					12																	1882007		2203	4300	6503	SO:0001630	splice_region_variant	79602			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.172-1G>A	12.37:g.1882007G>A			Q53YY5|Q9H737	Splice_Site	SNP	-	e2-1	ENST00000357103.4	37	c.172-1	CCDS8511.1	12	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686238	0.47991	.	.	ENSG00000006831	ENST00000357103	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0374	0.97568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADIPOR2	1752268	1.000000	0.71417	0.993000	0.49108	0.650000	0.38633	7.976000	0.88070	2.739000	0.93911	0.655000	0.94253	.	ADIPOR2	-	-		0.428	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR2	HGNC	protein_coding	OTTHUMT00000252447.2	G	NM_024551	Intron	1882007	1	no_errors	ENST00000357103	ensembl	human	known	70_37	splice_site	SNP	0.996	A	A	1882007	G	A	1882007	5	1	55	1	0	0	0	0	0	0	1	0	319	956	33	1	177	1	ADIPOR2	12	1882007	Splice_Site	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1465302	1882007	131969888	107	7455										
LRRC23	10233	genome.wustl.edu	37	chr12	7019143	7019143	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gacaaccagattgacaccctGagtggcttctccagagaaat	9	11	1	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:7019143G>C	ENST00000007969.8	+	6	931	c.711G>C	c.(709-711)ctG>ctC	p.L237L	LRRC23_ENST00000443597.2_Silent_p.L237L|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Silent_p.L237L	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	237										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TTGACACCCTGAGTGGCTTCT	0.537																																																	0													157	134	142					12																	7019143		2203	4300	6503	SO:0001819	synonymous_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.711G>C	12.37:g.7019143G>C			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	pfam_Leu-rich_rpt	p.L237	ENST00000007969.8	37	c.711	CCDS8569.1	12																																																																																			LRRC23	-	NULL		0.537	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	G	NM_006992		7019143	1	no_errors	ENST00000007969	ensembl	human	known	70_37	silent	SNP	1.000	C	C	7019143	G	C	7019143	2	2	55	1	0	0	0	0	0	0	0	1	9001	1277	45	1		1	LRRC23	12	7019143	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	5137136	7019143	126832752	108	7456										
CAPZA3	93661	genome.wustl.edu	37	chr12	18891478	18891478	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	catcaaagcaaactttctttCaaatatgacctgcttcaaaa	3	10	4	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:18891478C>A	ENST00000317658.3	+	1	434	c.276C>A	c.(274-276)ttC>ttA	p.F92L	PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	92					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AACTTTCTTTCAAATATGACC	0.408																																																	0													77	74	75					12																	18891478		2203	4300	6503	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.276C>A	12.37:g.18891478C>A	ENSP00000326238:p.Phe92Leu		Q969J0	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.F92L	ENST00000317658.3	37	c.276	CCDS8681.1	12	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428765	0.43122	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.78049	2.395	0.49051	D	0.999744	D	0.69078	0.997	D	0.74348	0.983	T	0.74942	-0.3492	9	0.87932	D	0	-3.4496	8.1675	0.31235	0.0:0.8931:0.0:0.1069	.	92	Q96KX2	CAZA3_HUMAN	L	92	.	ENSP00000326238:F92L	F	+	3	2	CAPZA3	18782745	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	1.134000	0.31442	2.278000	0.76064	0.462000	0.41574	TTC	CAPZA3	-	pfam_WASH_F-actin_cap_alpha		0.408	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA3	HGNC	protein_coding	OTTHUMT00000401902.1	C	NM_033328		18891478	1	no_errors	ENST00000317658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18891478	C	A	18891478	3	1	55	1	0	0	0	0	1	0	0	0	2647	825	29	3	278	3	CAPZA3	12	18891478	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	11872335	18891478	114960417	109	7457										
ITPR2	3709	genome.wustl.edu	37	chr12	26639267	26639267	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	taattgccctttcattccctCttttaaatgtagtgttgaat	5	8	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:26639267C>G	ENST00000381340.3	-	41	5997	c.5581G>C	c.(5581-5583)Gag>Cag	p.E1861Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1861					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATTCCCTCTTTTAAATGT	0.313																																																	0													140	127	131					12																	26639267		1836	4083	5919	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5581G>C	12.37:g.26639267C>G	ENSP00000370744:p.Glu1861Gln		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E1861Q	ENST00000381340.3	37	c.5581	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296006	0.60086	.	.	ENSG00000123104	ENST00000381340	D	0.90069	-2.61	4.92	4.92	0.64577	.	0.176459	0.49305	D	0.000154	D	0.86497	0.5947	L	0.45581	1.43	0.80722	D	1	B	0.13594	0.008	B	0.12156	0.007	T	0.82637	-0.0359	10	0.46703	T	0.11	.	18.3171	0.90225	0.0:1.0:0.0:0.0	.	1861	Q14571	ITPR2_HUMAN	Q	1861	ENSP00000370744:E1861Q	ENSP00000370744:E1861Q	E	-	1	0	ITPR2	26530534	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.539000	0.67199	2.550000	0.86006	0.655000	0.94253	GAG	ITPR2	-	superfamily_ARM-type_fold		0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	C	NM_002223		26639267	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26639267	C	G	26639267	3	3	55	1	0	0	0	0	1	0	0	0	7941	922	32	1	2592	1	ITPR2	12	26639267	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	7747789	26639267	107212628	110	7458										
TMTC1	83857	genome.wustl.edu	37	chr12	29908757	29908757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccccagaaacaaactgagcaGcaagaagaagggagacaccg	11	11	0	5			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:29908757G>A	ENST00000539277.1	-	4	674	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	TMTC1_ENST00000381224.2_Silent_p.L98L|TMTC1_ENST00000551659.1_Silent_p.L206L|TMTC1_ENST00000552618.1_Silent_p.L206L|TMTC1_ENST00000256062.5_Silent_p.L98L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	206						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAACTGAGCAGCAAGAAGAAG	0.473																																																	0													97	90	92					12																	29908757		2203	4300	6503	SO:0001819	synonymous_variant	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.616C>T	12.37:g.29908757G>A			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L98	ENST00000539277.1	37	c.292	CCDS53772.1	12																																																																																			TMTC1	-	NULL		0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	G	NM_031920		29908757	-1	no_errors	ENST00000256062	ensembl	human	known	70_37	silent	SNP	1.000	A	A	29908757	G	A	29908757	2	1	55	1	0	0	0	0	0	0	0	1	16290	962	34	4		4	TMTC1	12	29908757	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	3269490	29908757	103943138	111	7459										
MAP3K12	7786	genome.wustl.edu	37	chr12	53875770	53875770	+	Frame_Shift_Del	DEL	T	T	-													0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggaatgggcagggagctgggTtcagggccagggatgacctc							TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:53875770delT	ENST00000267079.2	-	14	2661	c.2436delA	c.(2434-2436)gaafs	p.E812fs	MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.E845fs|MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.E845fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	812					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGGAGCTGGGTTCAGGGCCAG	0.557											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	79	80					12																	53875770		2203	4300	6503	SO:0001589	frameshift_variant	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2436delA	12.37:g.53875770delT	ENSP00000267079:p.Glu812fs	996	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL	pirsf_MAP3K12_MAP3K13,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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E812fs	ENST00000267079.2	37	c.2436	CCDS8860.1	12																																																																																			MAP3K12	-	pirsf_MAP3K12_MAP3K13		0.557	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	T	NM_006301		53875770	-1	no_errors	ENST00000267079	ensembl	human	known	70_37	frame_shift_del	DEL	0.726	-	-	53875770	T	-	53875770	7	5	55	1	0	1	0	1	0	0	0	0	9269	1722	60	0	151	0	MAP3K12	12	53875770	Frame_Shift_Del	DEL	T	TCGA-DG-A2KL-01A-11D-A17W-09	23967013	53875770	79976125	112	7460	39	2								
MAP3K12	7786	genome.wustl.edu	37	chr12	53875771	53875771	+	Missense_Mutation	SNP	T	T	G													0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gaatgggcagggagctgggtTcagggccagggatgacctct							TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:53875771T>G	ENST00000267079.2	-	14	2660	c.2435A>C	c.(2434-2436)gAa>gCa	p.E812A	MAP3K12_ENST00000547488.1_Missense_Mutation_p.E845A|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E845A	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	812					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGCTGGGTTCAGGGCCAGG	0.557											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													84	79	81					12																	53875771		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2435A>C	12.37:g.53875771T>G	ENSP00000267079:p.Glu812Ala	996	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E812A	ENST00000267079.2	37	c.2435	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	T	6.269	0.417658	0.11870	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.56776	0.44;0.44;0.44	3.98	1.57	0.23409	.	0.301827	0.24056	N	0.041942	T	0.21631	0.0521	N	0.02011	-0.69	0.36327	D	0.858618	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05937	-1.0855	10	0.87932	D	0	.	4.3393	0.11101	0.2008:0.0:0.2088:0.5904	.	845;812	G3V1Y2;Q12852	.;M3K12_HUMAN	A	812;845;845	ENSP00000267079:E812A;ENSP00000449038:E845A;ENSP00000448689:E845A	ENSP00000267079:E812A	E	-	2	0	MAP3K12	52162038	0.999000	0.42202	0.549000	0.28204	0.043000	0.13939	0.371000	0.20450	0.333000	0.23563	0.402000	0.26972	GAA	MAP3K12	-	pirsf_MAP3K12_MAP3K13		0.557	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	T	NM_006301		53875771	-1	no_errors	ENST00000267079	ensembl	human	known	70_37	missense	SNP	0.722	G	G	53875771	T	G	53875771	3	3	55	1	0	0	0	0	1	0	0	0	9269	1783	62	5	152	5	MAP3K12	12	53875771	Missense_Mutation	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	1	53875771	79976124	113	7461	39	2								
NFE2	4778	genome.wustl.edu	37	chr12	54686942	54686942	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcggctcactgagcaggcctGagaggctcagtggcttggag	17	10	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:54686942G>C	ENST00000540264.2	-	2	847	c.338C>G	c.(337-339)tCa>tGa	p.S113*	NFE2_ENST00000553070.1_Nonsense_Mutation_p.S113*|NFE2_ENST00000435572.2_Nonsense_Mutation_p.S113*|NFE2_ENST00000312156.4_Nonsense_Mutation_p.S113*|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	113	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.S113*(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGCAGGCCTGAGAGGCTCAG	0.592																																																	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|breast(1)											110	116	114					12																	54686942		2203	4300	6503	SO:0001587	stop_gained	4778			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.338C>G	12.37:g.54686942G>C	ENSP00000439120:p.Ser113*		Q07720|Q6ICV9	Nonsense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S113*	ENST00000540264.2	37	c.338	CCDS8876.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.803338	0.98498	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	5.1	0.69264	.	0.706306	0.13462	N	0.386064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.3998	11.3174	0.49401	0.0:0.0:0.8186:0.1814	.	.	.	.	X	113	.	ENSP00000312436:S113X	S	-	2	0	NFE2	52973209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.938000	0.56583	2.824000	0.97209	0.655000	0.94253	TCA	NFE2	-	NULL		0.592	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	G	NM_006163		54686942	-1	no_errors	ENST00000312156	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	54686942	G	C	54686942	4	2	55	1	0	0	0	0	0	1	0	0	10390	1294	45	1	787	1	NFE2	12	54686942	Nonsense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	811171	54686942	79164953	114	7462										
NAB2	4665	genome.wustl.edu	37	chr12	57485779	57485779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcaagcagctcagcctgcacGaggtgagaacccccaggcct	12	15	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:57485779G>A	ENST00000300131.3	+	2	1333	c.955G>A	c.(955-957)Gag>Aag	p.E319K	NAB2_ENST00000357680.4_Missense_Mutation_p.E319K|NAB2_ENST00000342556.6_Missense_Mutation_p.E319K	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	319	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGCCTGCACGAGGTGAGAAC	0.537																																																	0													39	43	41					12																	57485779		2203	4300	6503	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.955G>A	12.37:g.57485779G>A	ENSP00000300131:p.Glu319Lys		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.E319K	ENST00000300131.3	37	c.955	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.216570	0.95104	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.97	4.97	0.65823	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.76047	0.3933	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78811	-0.2057	9	0.87932	D	0	-19.7418	15.7293	0.77790	0.0:0.0:1.0:0.0	.	319	Q15742	NAB2_HUMAN	K	319	.	ENSP00000300131:E319K	E	+	1	0	NAB2	55772046	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.756000	0.98918	2.296000	0.77279	0.561000	0.74099	GAG	NAB2	-	pfam_NAB_co-repressor_dom		0.537	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57485779	1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57485779	G	A	57485779	3	1	55	1	0	0	0	0	1	0	0	0	10155	1059	37	1	961	1	NAB2	12	57485779	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2798837	57485779	76366116	115	7463										
CSRP2	1466	genome.wustl.edu	37	chr12	77253379	77253379	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agagttgttgattcaagactCttcccacactttgcacatcg	7	11	2	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:77253379C>G	ENST00000311083.5	-	5	576	c.453G>C	c.(451-453)aaG>aaC	p.K151N	CSRP2_ENST00000547435.1_Missense_Mutation_p.K151N|CSRP2_ENST00000552330.1_Missense_Mutation_p.K201N|CSRP2_ENST00000546966.1_Missense_Mutation_p.K151N	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	151	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ATTCAAGACTCTTCCCACACT	0.398																																																	0													86	76	79					12																	77253379		2203	4300	6503	SO:0001583	missense	1466			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.453G>C	12.37:g.77253379C>G	ENSP00000310901:p.Lys151Asn		Q93030	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K151N	ENST00000311083.5	37	c.453	CCDS9015.1	12	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863467	0.71949	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.64	3.83	0.44106	Zinc finger, LIM-type (5);	0.043317	0.85682	D	0.000000	D	0.95893	0.8663	M	0.85197	2.74	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	D	0.94404	0.7625	10	0.54805	T	0.06	-2.8988	6.8465	0.23990	0.0:0.6217:0.0:0.3782	.	151	Q16527	CSRP2_HUMAN	N	151;201;151;151	ENSP00000310901:K151N;ENSP00000449824:K201N;ENSP00000450056:K151N;ENSP00000450143:K151N	ENSP00000310901:K151N	K	-	3	2	CSRP2	75777510	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.747000	0.26290	0.753000	0.32945	0.655000	0.94253	AAG	CSRP2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.398	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP2	HGNC	protein_coding	OTTHUMT00000406572.1	C	NM_001321		77253379	-1	no_errors	ENST00000311083	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77253379	C	G	77253379	3	3	55	1	0	0	0	0	1	0	0	0	3972	912	32	1	136	1	CSRP2	12	77253379	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	19767600	77253379	56598516	116	7464										
TPCN1	53373	genome.wustl.edu	37	chr12	113730871	113730871	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gaccctctcccagatggagaGataccaggtgaggagcccag	13	12	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:113730871G>C	ENST00000335509.6	+	26	2560	c.2246G>C	c.(2245-2247)aGa>aCa	p.R749T	TPCN1_ENST00000541517.1_Missense_Mutation_p.R821T|TPCN1_ENST00000392569.4_Missense_Mutation_p.R681T|TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000550785.1_Missense_Mutation_p.R821T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	749					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CAGATGGAGAGATACCAGGTG	0.592																																																	0													24	27	26					12																	113730871		2203	4300	6503	SO:0001583	missense	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2246G>C	12.37:g.113730871G>C	ENSP00000335300:p.Arg749Thr		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R821T	ENST00000335509.6	37	c.2462	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110353	0.20714	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.24	-2.86	0.05717	.	0.353602	0.31697	N	0.007205	T	0.30727	0.0774	L	0.34521	1.04	0.09310	N	1	B;B	0.24258	0.063;0.1	B;B	0.24701	0.055;0.036	T	0.25012	-1.0144	10	0.21540	T	0.41	-5.1714	11.8961	0.52658	0.738:0.0:0.262:0.0	.	821;749	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	749;821;821;681	ENSP00000335300:R749T;ENSP00000448083:R821T;ENSP00000438125:R821T;ENSP00000376350:R681T	ENSP00000335300:R749T	R	+	2	0	TPCN1	112215254	0.000000	0.05858	0.037000	0.18230	0.741000	0.42261	0.122000	0.15687	-0.368000	0.08040	-0.291000	0.09656	AGA	TPCN1	-	NULL		0.592	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	G	NM_017901		113730871	1	no_errors	ENST00000541517	ensembl	human	known	70_37	missense	SNP	0.002	C	C	113730871	G	C	113730871	3	2	55	1	0	0	0	0	1	0	0	0	16426	942	33	1	2564	1	TPCN1	12	113730871	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	36477492	113730871	20121024	117	7465										
CHFR	55743	genome.wustl.edu	37	chr12	133454168	133454168	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cttccagtgtcacctgacctGatttttcatccactacaatt	4	13	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:133454168G>C	ENST00000432561.2	-	3	279	c.206C>G	c.(205-207)tCa>tGa	p.S69*	CHFR_ENST00000450056.2_Nonsense_Mutation_p.S69*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.S69*|CHFR_ENST00000266880.7_Nonsense_Mutation_p.S69*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.S69*|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	69	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CACCTGACCTGATTTTTCATC	0.458																																																	0													143	131	135					12																	133454168		2203	4300	6503	SO:0001587	stop_gained	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.206C>G	12.37:g.133454168G>C	ENSP00000392395:p.Ser69*		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.S69*	ENST00000432561.2	37	c.206	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.460979	0.96240	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	.	.	.	5.46	5.46	0.80206	.	0.060944	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.222	19.4053	0.94646	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000266880:S69X	S	-	2	0	CHFR	131964241	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.855000	0.75445	2.579000	0.87056	0.558000	0.71614	TCA	CHFR	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.458	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	G			133454168	-1	no_errors	ENST00000266880	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	133454168	G	C	133454168	4	2	55	1	0	0	0	0	0	1	0	0	3342	1294	45	1	1949	1	CHFR	12	133454168	Nonsense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	19723297	133454168	397727	118	7466										
EFHA1	221154	genome.wustl.edu	37	chr13	22178093	22178093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgtacctgtgcggagactgtAaaactgccatcccgcgccgc	11	14	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:22178093A>G	ENST00000382374.4	-	1	260	c.195T>C	c.(193-195)ttT>ttC	p.F65F		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	65					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CGGAGACTGTAAAACTGCCAT	0.682																																																	0													25	26	26					13																	22178093		2202	4300	6502	SO:0001819	synonymous_variant	221154			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.195T>C	13.37:g.22178093A>G			Q8N0T6|Q8NAX8	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F65	ENST00000382374.4	37	c.195	CCDS9297.1	13																																																																																			EFHA1	-	NULL		0.682	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA1	HGNC	protein_coding	OTTHUMT00000144355.1	A	NM_152726		22178093	-1	no_errors	ENST00000382374	ensembl	human	known	70_37	silent	SNP	0.000	G	G	22178093	A	G	22178093	2	3	55	1	0	0	0	0	0	0	0	1	4953	359	13	5		5	EFHA1	13	22178093	Silent	SNP	A	TCGA-DG-A2KL-01A-11D-A17W-09		22178093	92991785	119	7467										
SACS	26278	genome.wustl.edu	37	chr13	23908103	23908103	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	actgcaatgtgcataaggctGagaggaagcagaacatctcc	11	9	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:23908103G>C	ENST00000382292.3	-	9	10185	c.9912C>G	c.(9910-9912)ctC>ctG	p.L3304L	SACS_ENST00000382298.3_Silent_p.L3304L|SACS_ENST00000402364.1_Silent_p.L2554L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3304					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCATAAGGCTGAGAGGAAGCA	0.413																																																	0													84	74	78					13																	23908103		2203	4299	6502	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9912C>G	13.37:g.23908103G>C			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.L3304	ENST00000382292.3	37	c.9912	CCDS9300.2	13																																																																																			SACS	-	NULL		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23908103	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	silent	SNP	0.146	C	C	23908103	G	C	23908103	2	2	55	1	0	0	0	0	0	0	0	1	13834	1277	45	1		1	SACS	13	23908103	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1730010	23908103	91261775	120	7468										
RXFP2	122042	genome.wustl.edu	37	chr13	32367085	32367085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	catttgcatctggatggcggGatttttaatagctgtaattc	10	6	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:32367085G>A	ENST00000298386.2	+	16	1717	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G525E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	549					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGATGGCGGGATTTTTAATA	0.388																																																	0													70	71	71					13																	32367085		2203	4300	6503	SO:0001583	missense	122042			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1646G>A	13.37:g.32367085G>A	ENSP00000298386:p.Gly549Glu		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.G549E	ENST00000298386.2	37	c.1646	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013281	0.75161	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.40756	1.02;1.02	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77370	-0.2613	10	0.66056	D	0.02	.	18.4913	0.90849	0.0:0.0:1.0:0.0	.	525;549	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	525;549	ENSP00000369670:G525E;ENSP00000298386:G549E	ENSP00000298386:G549E	G	+	2	0	RXFP2	31265085	1.000000	0.71417	0.571000	0.28486	0.514000	0.34195	9.647000	0.98478	2.721000	0.93114	0.655000	0.94253	GGA	RXFP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.388	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	G	NM_130806		32367085	1	no_errors	ENST00000298386	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32367085	G	A	32367085	3	1	55	1	0	0	0	0	1	0	0	0	13790	1174	41	1	1708	1	RXFP2	13	32367085	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	8458982	32367085	82802793	121	7469										
SLC15A1	6564	genome.wustl.edu	37	chr13	99338473	99338473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gaactggcctgcccctgccaCgatgagcacaatgatgttgc	11	13	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:99338473C>T	ENST00000376503.5	-	22	1961	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	636					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCCCCTGCCACGATGAGCACA	0.542																																																	0													137	90	106					13																	99338473		2203	4300	6503	SO:0001583	missense	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1906G>A	13.37:g.99338473C>T	ENSP00000365686:p.Val636Met		Q5VW82	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V636M	ENST00000376503.5	37	c.1906	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066783	0.55539	.	.	ENSG00000088386	ENST00000376503	T	0.61158	0.13	5.81	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.061945	0.64402	D	0.000005	T	0.79713	0.4493	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.83809	0.0240	10	0.87932	D	0	-18.821	10.6016	0.45371	0.0:0.8457:0.0:0.1543	.	636	P46059	S15A1_HUMAN	M	636	ENSP00000365686:V636M	ENSP00000365686:V636M	V	-	1	0	SLC15A1	98136474	0.997000	0.39634	0.843000	0.33291	0.274000	0.26718	3.511000	0.53400	1.452000	0.47756	0.655000	0.94253	GTG	SLC15A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.542	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	C	NM_005073		99338473	-1	no_errors	ENST00000376503	ensembl	human	known	70_37	missense	SNP	0.993	T	T	99338473	C	T	99338473	3	4	55	1	0	0	0	0	1	0	0	0	14428	536	19	2	228	2	SLC15A1	13	99338473	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	66971388	99338473	15831405	122	7470										
POTEM	641455	genome.wustl.edu	37	chr14	20020102	20020102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cagaagtgcccacgttgctcTtgccgctccccctgcaccag	9	18	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:20020102T>C	ENST00000551509.1	-	1	170	c.119A>G	c.(118-120)aAg>aGg	p.K40R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	40										endometrium(4)|kidney(1)|lung(4)	9						CACGTTGCTCTTGCCGCTCCC	0.592																																																	0													8	9	8					14																	20020102		212	605	817	SO:0001583	missense	641455				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.119A>G	14.37:g.20020102T>C	ENSP00000452296:p.Lys40Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K40R	ENST00000551509.1	37	c.119	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	t	11.02	1.514825	0.27123	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.36699	1.24	.	.	.	.	.	.	.	.	T	0.40247	0.1109	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.23655	-1.0182	6	.	.	.	.	.	.	.	.	40	A6NI47	POTEM_HUMAN	R	40	ENSP00000452296:K40R	.	K	-	2	0	POTEM	19090102	0.010000	0.17322	0.118000	0.21660	0.119000	0.20118	0.253000	0.18296	0.231000	0.21079	0.228000	0.17796	AAG	POTEM	-	NULL		0.592	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	T	NM_001145442		20020102	-1	no_errors	ENST00000547848	ensembl	human	known	70_37	missense	SNP	0.137	C	C	20020102	T	C	20020102	3	2	55	1	0	0	0	0	1	0	0	0	12292	1609	56	5	1447	5	POTEM	14	20020102	Missense_Mutation	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09		20020102	87329438	123	7471										
OR10G3	26533	genome.wustl.edu	37	chr14	22038145	22038145	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cggtgaccacggttacatggGctccacaagttgaaaaagcc	11	11	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:22038145G>C	ENST00000303532.1	-	1	730	c.731C>G	c.(730-732)gCc>gGc	p.A244G		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGTTACATGGGCTCCACAAGT	0.572																																																	0													78	86	83					14																	22038145		2203	4300	6503	SO:0001583	missense	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.731C>G	14.37:g.22038145G>C	ENSP00000302437:p.Ala244Gly		Q6IET7|Q96R77	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A244G	ENST00000303532.1	37	c.731	CCDS32046.1	14	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702848	0.88924	.	.	ENSG00000169208	ENST00000303532	T	0.37584	1.19	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000501	T	0.55065	0.1897	M	0.72894	2.215	0.43868	D	0.996475	P	0.49559	0.925	P	0.56648	0.803	T	0.59348	-0.7471	10	0.87932	D	0	-10.8838	16.3832	0.83489	0.0:0.0:1.0:0.0	.	244	Q8NGC4	O10G3_HUMAN	G	244	ENSP00000302437:A244G	ENSP00000302437:A244G	A	-	2	0	OR10G3	21107985	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.157000	0.94714	2.531000	0.85337	0.585000	0.79938	GCC	OR10G3	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.572	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G3	HGNC	protein_coding	OTTHUMT00000401521.1	G			22038145	-1	no_errors	ENST00000303532	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22038145	G	C	22038145	3	2	55	1	0	0	0	0	1	0	0	0	10924	1203	42	4	213	4	OR10G3	14	22038145	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2018043	22038145	85311395	124	7472										
C14orf21	161424	genome.wustl.edu	37	chr14	24769346	24769346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cacctgagcccggaagctctGggatatttccgccgggcgct	13	14	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:24769346G>A	ENST00000267425.3	+	1	279	c.186G>A	c.(184-186)ctG>ctA	p.L62L	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Silent_p.L62L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	62							poly(A) RNA binding (GO:0044822)										CGGAAGCTCTGGGATATTTCC	0.637																																																	0													42	50	47					14																	24769346		2156	4261	6417	SO:0001819	synonymous_variant	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.186G>A	14.37:g.24769346G>A			A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.L62	ENST00000267425.3	37	c.186	CCDS9624.1	14																																																																																			NOP9	-	NULL		0.637	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	G			24769346	1	no_errors	ENST00000267425	ensembl	human	known	70_37	silent	SNP	0.942	A	A	24769346	G	A	24769346	2	1	55	1	0	0	0	0	0	0	0	1	1773	1335	47	4		4	C14orf21	14	24769346	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2731201	24769346	82580194	125	7473										
RALGAPA1	253959	genome.wustl.edu	37	chr14	36121025	36121025	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aattaccctcttgtccatttCataagatgaagcctctgtac	5	11	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:36121025C>T	ENST00000389698.3	-	30	4534	c.4144G>A	c.(4144-4146)Gaa>Aaa	p.E1382K	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1382K|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E1429K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1395K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1382	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTCCATTTCATAAGATGAA	0.269																																																	0													69	75	73					14																	36121025		2203	4291	6494	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4144G>A	14.37:g.36121025C>T	ENSP00000374348:p.Glu1382Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E1429K	ENST00000389698.3	37	c.4285	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809083	0.90707	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.41	5.41	0.78517	.	0.218509	0.46442	D	0.000286	T	0.47040	0.1424	M	0.64170	1.965	0.51012	D	0.999904	D;P;B;D	0.58268	0.982;0.761;0.427;0.982	P;B;B;P	0.52424	0.608;0.407;0.204;0.698	T	0.48352	-0.9043	10	0.72032	D	0.01	-16.2691	19.203	0.93719	0.0:1.0:0.0:0.0	.	1429;1395;1382;1382	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	1382;1382;1382;1429;20;1395;1429	ENSP00000374348:E1382K;ENSP00000302647:E1382K;ENSP00000258840:E1429K;ENSP00000451133:E20K;ENSP00000371803:E1395K;ENSP00000451877:E1429K	ENSP00000258840:E1429K	E	-	1	0	RALGAPA1	35190776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.789000	0.62446	2.535000	0.85469	0.591000	0.81541	GAA	RALGAPA1	-	superfamily_ARM-type_fold		0.269	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	C	XM_210022		36121025	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36121025	C	T	36121025	3	4	55	1	0	0	0	0	1	0	0	0	13043	835	29	1	2163	1	RALGAPA1	14	36121025	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	11351679	36121025	71228515	126	7474										
GPR137C	283554	genome.wustl.edu	37	chr14	53066913	53066913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcgcaatgctagttcatggaGatgtcccagaaaatcagttg	11	8	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:53066913G>A	ENST00000321662.6	+	3	571	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	191						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					AGTTCATGGAGATGTCCCAGA	0.373																																																	0													244	214	223					14																	53066913		1868	4112	5980	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.571G>A	14.37:g.53066913G>A	ENSP00000315106:p.Asp191Asn		Q86SM2	Missense_Mutation	SNP	NULL	p.D191N	ENST00000321662.6	37	c.571	CCDS45106.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.279541|2.279541	0.40294|0.40294	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.44881|.	0.91|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.408254|.	0.28431|.	N|.	0.015370|.	T|T	0.50871|0.50871	0.1641|0.1641	N|N	0.22421|0.22421	0.69|0.69	0.39247|0.39247	D|D	0.963965|0.963965	B;B|.	0.30361|.	0.096;0.277|.	B;B|.	0.33042|.	0.068;0.157|.	T|T	0.49881|0.49881	-0.8892|-0.8892	10|5	0.11485|.	T|.	0.65|.	-0.9185|-0.9185	13.0963|13.0963	0.59195|0.59195	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	191;20|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	N|K	191|144	ENSP00000315106:D191N|.	ENSP00000315106:D191N|.	D|R	+|+	1|2	0|0	GPR137C|GPR137C	52136663|52136663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.725000|2.725000	0.47294|0.47294	2.684000|2.684000	0.91462|0.91462	0.591000|0.591000	0.81541|0.81541	GAT|AGA	GPR137C	-	NULL		0.373	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137C	HGNC	protein_coding	OTTHUMT00000411685.1	G	XM_290615		53066913	1	no_errors	ENST00000321662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53066913	G	A	53066913	3	1	55	1	0	0	0	0	1	0	0	0	6666	942	33	1	581	1	GPR137C	14	53066913	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	16945888	53066913	54282627	127	7475										
CGRRF1	10668	genome.wustl.edu	37	chr14	54996927	54996927	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gctctgtatagtgaatatctCtatcaggaacagtatttgta	8	6	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:54996927C>G	ENST00000216420.7	+	3	537	c.405C>G	c.(403-405)ctC>ctG	p.L135L	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	135					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GTGAATATCTCTATCAGGAAC	0.348																																																	0													55	54	55					14																	54996927		2202	4300	6502	SO:0001819	synonymous_variant	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.405C>G	14.37:g.54996927C>G			Q96BX2	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L135	ENST00000216420.7	37	c.405	CCDS9719.1	14																																																																																			CGRRF1	-	NULL		0.348	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	HGNC	protein_coding	OTTHUMT00000276905.2	C	NM_006568		54996927	1	no_errors	ENST00000216420	ensembl	human	known	70_37	silent	SNP	0.954	G	G	54996927	C	G	54996927	2	3	55	1	0	0	0	0	0	0	0	1	3311	900	32	1		1	CGRRF1	14	54996927	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1930014	54996927	52352613	128	7476										
SPTB	6710	genome.wustl.edu	37	chr14	65240132	65240132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cacttgcccctgaagtctgaTgatctgttccctggaattca	8	12	3	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:65240132T>C	ENST00000389721.5	-	24	5016	c.4984A>G	c.(4984-4986)Atc>Gtc	p.I1662V	SPTB_ENST00000389722.3_Missense_Mutation_p.I1662V|SPTB_ENST00000542895.1_Missense_Mutation_p.I1662V|SPTB_ENST00000556626.1_Missense_Mutation_p.I1662V|SPTB_ENST00000389720.3_Missense_Mutation_p.I1662V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1662					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAAGTCTGATGATCTGTTCC	0.572																																																	0													105	97	100					14																	65240132		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4984A>G	14.37:g.65240132T>C	ENSP00000374371:p.Ile1662Val		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.I1662V	ENST00000389721.5	37	c.4984	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384673	0.25031	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	L	0.53249	1.67	0.39436	D	0.967165	B;B;B	0.12013	0.002;0.005;0.005	B;B;B	0.24541	0.036;0.054;0.013	T	0.45659	-0.9246	10	0.46703	T	0.11	.	14.1654	0.65473	0.0:0.0:0.0:1.0	.	446;1662;1666	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	1666;1662;446;327;1662;1662;1662;1662	ENSP00000374372:I1662V;ENSP00000451324:I327V;ENSP00000451752:I1662V;ENSP00000374371:I1662V;ENSP00000443882:I1662V;ENSP00000374370:I1662V	ENSP00000334218:I446V	I	-	1	0	SPTB	64309885	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	1.657000	0.37366	2.052000	0.61016	0.459000	0.35465	ATC	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	T			65240132	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65240132	T	C	65240132	3	2	55	1	0	0	0	0	1	0	0	0	15148	1464	51	5	2119	5	SPTB	14	65240132	Missense_Mutation	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	10243205	65240132	42109408	129	7477										
MAP3K9	4293	genome.wustl.edu	37	chr14	71215635	71215635	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gaaggagtccttgggcatttCaaagaaaccagactcctcta	9	10	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:71215635C>G	ENST00000554752.2	-	5	1236	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	MAP3K9_ENST00000553414.1_Missense_Mutation_p.E107Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E413Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E150Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E413Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	413					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGGCATTTCAAAGAAACCA	0.473																																					GBM(114;411 1587 13539 28235 50070)												0													143	129	134					14																	71215635		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1237G>C	14.37:g.71215635C>G	ENSP00000451612:p.Glu413Gln		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E413Q	ENST00000554752.2	37	c.1237		14	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015359	0.54468	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.75050	-0.87;-0.88;-0.9;-0.89	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.046932	0.85682	D	0.000000	T	0.66858	0.2832	L	0.29908	0.895	0.53005	D	0.999968	B;B;B;B	0.28026	0.198;0.125;0.198;0.198	B;B;B;B	0.33799	0.17;0.05;0.108;0.108	T	0.61078	-0.7135	10	0.12766	T	0.61	.	19.4627	0.94924	0.0:1.0:0.0:0.0	.	150;413;413;107	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	413;413;107;413;150;141	ENSP00000451612:E413Q;ENSP00000451038:E107Q;ENSP00000370649:E413Q;ENSP00000451921:E150Q	ENSP00000005198:E413Q	E	-	1	0	MAP3K9	70285388	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.472000	0.35376	2.675000	0.91044	0.650000	0.86243	GAA	MAP3K9	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom		0.473	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	C			71215635	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71215635	C	G	71215635	3	3	55	1	0	0	0	0	1	0	0	0	9280	835	29	1	2155	1	MAP3K9	14	71215635	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	5975503	71215635	36133905	130	7478										
SGK269	79834	genome.wustl.edu	37	chr15	77426049	77426049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcgtccacagctcccttgggCtgtcgtggctgcttgggagg	15	12	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:77426049C>A	ENST00000560626.2	-	6	3850	c.3375G>T	c.(3373-3375)caG>caT	p.Q1125H	PEAK1_ENST00000312493.4_Missense_Mutation_p.Q1125H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1125					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCCCTTGGGCTGTCGTGGCT	0.463																																																	0													68	64	66					15																	77426049		1955	4145	6100	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3375G>T	15.37:g.77426049C>A	ENSP00000452796:p.Gln1125His		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	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,pfscan_Prot_kinase_cat_dom	p.Q1125H	ENST00000560626.2	37	c.3375	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318052	0.23994	.	.	ENSG00000173517	ENST00000312493	T	0.70045	-0.45	5.58	2.59	0.31030	.	0.206710	0.41938	N	0.000782	T	0.42449	0.1203	N	0.17082	0.46	0.31710	N	0.639663	B	0.09022	0.002	B	0.06405	0.002	T	0.29427	-1.0012	10	0.23891	T	0.37	-1.3098	4.3568	0.11183	0.1594:0.5108:0.0:0.3298	.	1125	Q9H792	PEAK1_HUMAN	H	1125	ENSP00000309230:Q1125H	ENSP00000309230:Q1125H	Q	-	3	2	AC087465.1	75213104	0.766000	0.28496	1.000000	0.80357	0.992000	0.81027	-0.099000	0.11007	0.672000	0.31204	0.561000	0.74099	CAG	PEAK1	-	NULL		0.463	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77426049	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	0.998	A	A	77426049	C	A	77426049	3	1	55	1	0	0	0	0	1	0	0	0	14241	796	28	4	1873	4	SGK269	15	77426049	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		77426049	25105343	131	7479										
IDH3A	3419	genome.wustl.edu	37	chr15	78454651	78454651	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcattgctgagtttgcctttGagtatgcccggaacaaccac	10	11	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:78454651G>C	ENST00000299518.2	+	6	636	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.E150Q|IDH3A_ENST00000441490.2_Missense_Mutation_p.E76Q|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	185					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						GTTTGCCTTTGAGTATGCCCG	0.567																																																	0													147	119	128					15																	78454651		2196	4293	6489	SO:0001583	missense	3419				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.553G>C	15.37:g.78454651G>C	ENSP00000299518:p.Glu185Gln		D3DW83|Q9H3X0	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.E185Q	ENST00000299518.2	37	c.553	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544226	0.65198	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.56941	0.43;0.43	5.65	5.65	0.86999	Isopropylmalate dehydrogenase-like domain (2);	0.045751	0.85682	D	0.000000	T	0.48223	0.1488	L	0.35854	1.095	0.80722	D	1	B;B;B	0.21452	0.044;0.022;0.056	B;B;B	0.31390	0.129;0.046;0.101	T	0.34601	-0.9822	10	0.18710	T	0.47	-21.017	18.6988	0.91613	0.0:0.0:1.0:0.0	.	150;135;185	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	Q	185;76	ENSP00000299518:E185Q;ENSP00000387506:E76Q	ENSP00000299518:E185Q	E	+	1	0	IDH3A	76241706	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.706000	0.98722	2.669000	0.90835	0.491000	0.48974	GAG	IDH3A	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.567	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	HGNC	protein_coding	OTTHUMT00000289799.4	G	NM_005530		78454651	1	no_errors	ENST00000299518	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78454651	G	C	78454651	3	2	55	1	0	0	0	0	1	0	0	0	7516	1291	45	1	575	1	IDH3A	15	78454651	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1028602	78454651	24076741	132	7480										
ADAMTS7	11173	genome.wustl.edu	37	chr15	79065434	79065434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccaccccatacccaggccctCggcctcctcgaaggtcccgc	8	22	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:79065434C>T	ENST00000388820.4	-	14	2332	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	708	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCCAGGCCCTCGGCCTCCTCG	0.662																																																	0													8	9	9					15																	79065434		1988	3997	5985	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2122G>A	15.37:g.79065434C>T	ENSP00000373472:p.Glu708Lys		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E708K	ENST00000388820.4	37	c.2122	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908295	0.92107	.	.	ENSG00000136378	ENST00000388820	T	0.51071	0.72	3.75	3.75	0.43078	ADAM-TS Spacer 1 (1);	0.063181	0.64402	D	0.000009	T	0.59702	0.2213	L	0.45581	1.43	0.52099	D	0.999941	D;D	0.89917	0.995;1.0	D;D	0.78314	0.936;0.991	T	0.58002	-0.7713	10	0.34782	T	0.22	.	14.6305	0.68653	0.0:1.0:0.0:0.0	.	708;708	A8MQ00;Q9UKP4	.;ATS7_HUMAN	K	708	ENSP00000373472:E708K	ENSP00000373472:E708K	E	-	1	0	ADAMTS7	76852489	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	5.621000	0.67743	2.074000	0.62210	0.471000	0.43371	GAG	ADAMTS7	-	pfam_ADAM_spacer1		0.662	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	C	NM_014272		79065434	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79065434	C	T	79065434	3	4	55	1	0	0	0	0	1	0	0	0	271	893	31	1	2982	1	ADAMTS7	15	79065434	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	610783	79065434	23465958	133	7481										
RASGRF1	5923	genome.wustl.edu	37	chr15	79294079	79294079	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgtttcagtatcaccatcatCactctggttttgatcaatat	5	9	6	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:79294079C>T	ENST00000419573.3	-	17	2822	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	RASGRF1_ENST00000394745.3_Missense_Mutation_p.D66N|RASGRF1_ENST00000558480.2_Missense_Mutation_p.D834N|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	850					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACCATCATCACTCTGGTTT	0.333																																																	0													200	184	190					15																	79294079		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2548G>A	15.37:g.79294079C>T	ENSP00000405963:p.Asp850Asn		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D850N	ENST00000419573.3	37	c.2548	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298719	0.60195	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.78364	-1.17;-1.17	4.97	4.97	0.65823	Ras guanine nucleotide exchange factor, domain (1);	0.187187	0.45361	D	0.000371	T	0.76154	0.3948	M	0.63428	1.95	0.80722	D	1	P;P;P;B;P	0.48694	0.704;0.914;0.501;0.411;0.493	B;B;B;B;B	0.44044	0.283;0.439;0.156;0.111;0.372	T	0.75875	-0.3163	10	0.32370	T	0.25	.	13.7235	0.62743	0.0:1.0:0.0:0.0	.	246;850;834;852;834	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	N	850;834;66	ENSP00000405963:D850N;ENSP00000378228:D66N	ENSP00000378224:D834N	D	-	1	0	RASGRF1	77081134	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	6.687000	0.74552	2.309000	0.77851	0.491000	0.48974	GAT	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom		0.333	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	C	NM_002891		79294079	-1	no_errors	ENST00000419573	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79294079	C	T	79294079	3	4	55	1	0	0	0	0	1	0	0	0	13102	826	29	1	1321	1	RASGRF1	15	79294079	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	228645	79294079	23237313	134	7482										
CHD2	1106	genome.wustl.edu	37	chr15	93528871	93528871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aggagtgtgcggaaggacctCgtggagggatttactgatgc	17	6	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:93528871C>T	ENST00000394196.4	+	26	4449	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L	CHD2_ENST00000557381.1_Silent_p.L1127L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1127					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAAGGACCTCGTGGAGGGAT	0.527																																																	0													144	125	132					15																	93528871		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3381C>T	15.37:g.93528871C>T			C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1127	ENST00000394196.4	37	c.3381	CCDS10374.2	15																																																																																			CHD2	-	NULL		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	C	NM_001271		93528871	1	no_errors	ENST00000557381	ensembl	human	putative	70_37	silent	SNP	0.399	T	T	93528871	C	T	93528871	2	4	55	1	0	0	0	0	0	0	0	1	3330	871	31	1		1	CHD2	15	93528871	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	14234792	93528871	9002521	135	7483										
ADAMTS17	170691	genome.wustl.edu	37	chr15	100589078	100589078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttaccgtgactggcaggggtGcaagttgcaccttcggacct	13	11	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:100589078G>A	ENST00000268070.4	-	18	2680	c.2575C>T	c.(2575-2577)Cac>Tac	p.H859Y		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	859	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGCAGGGGTGCAAGTTGCAC	0.572																																																	0													113	99	104					15																	100589078		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2575C>T	15.37:g.100589078G>A	ENSP00000268070:p.His859Tyr		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.H859Y	ENST00000268070.4	37	c.2575	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043697	0.75732	.	.	ENSG00000140470	ENST00000268070	T	0.61274	0.12	4.59	4.59	0.56863	.	0.198429	0.42682	D	0.000672	T	0.60327	0.2260	M	0.68952	2.095	0.80722	D	1	P	0.49783	0.928	B	0.42692	0.395	T	0.69723	-0.5068	10	0.72032	D	0.01	.	17.7748	0.88504	0.0:0.0:1.0:0.0	.	859	Q8TE56	ATS17_HUMAN	Y	859	ENSP00000268070:H859Y	ENSP00000268070:H859Y	H	-	1	0	ADAMTS17	98406601	1.000000	0.71417	0.274000	0.24659	0.965000	0.64279	8.911000	0.92721	2.250000	0.74265	0.655000	0.94253	CAC	ADAMTS17	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.572	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	G	NM_139057		100589078	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	missense	SNP	0.995	A	A	100589078	G	A	100589078	3	1	55	1	0	0	0	0	1	0	0	0	262	1319	46	4	732	4	ADAMTS17	15	100589078	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	7060207	100589078	1942314	136	7484										
C16orf90	646174	genome.wustl.edu	37	chr16	3544829	3544829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggcccccctcgtagatgttgGggggtgcgtcagggtggccg	19	11	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:3544829G>A	ENST00000437192.3	-	2	97	c.95C>T	c.(94-96)cCc>cTc	p.P32L	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	22										large_intestine(1)	1						GTAGATGTTGGGGGGTGCGTC	0.711																																																	0													13	15	15					16																	3544829		1859	4061	5920	SO:0001583	missense	646174				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.95C>T	16.37:g.3544829G>A	ENSP00000401335:p.Pro32Leu			Missense_Mutation	SNP	NULL	p.P32L	ENST00000437192.3	37	c.95	CCDS45397.1	16	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802907	0.31869	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.7	4.71	0.59529	.	0.000000	0.32444	U	0.006081	T	0.44519	0.1297	L	0.34521	1.04	0.40200	D	0.977507	B	0.13594	0.008	B	0.13407	0.009	T	0.37174	-0.9717	9	0.40728	T	0.16	-7.745	9.2956	0.37813	0.1064:0.0:0.8936:0.0	.	32	A8MZG2-2	.	L	32	.	ENSP00000401335:P32L	P	-	2	0	C16orf90	3484830	1.000000	0.71417	0.920000	0.36463	0.516000	0.34256	1.136000	0.31467	1.329000	0.45376	0.591000	0.81541	CCC	C16orf90	-	NULL		0.711	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf90	HGNC	protein_coding	OTTHUMT00000346319.2	G	NM_001080524		3544829	-1	no_errors	ENST00000437192	ensembl	human	known	70_37	missense	SNP	0.985	A	A	3544829	G	A	3544829	3	1	55	1	0	0	0	0	1	0	0	0	1847	1232	43	4	461	4	C16orf90	16	3544829	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		3544829	86809924	137	7485										
CPPED1	55313	genome.wustl.edu	37	chr16	12758794	12758794	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcttctattcctttctcactCagctcatctagactgtagta	4	12	6	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:12758794C>G	ENST00000381774.4	-	4	1134	c.894G>C	c.(892-894)ctG>ctC	p.L298L	CPPED1_ENST00000261660.4_3'UTR|CPPED1_ENST00000433677.2_Silent_p.L156L	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	298						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.L298L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTTTCTCACTCAGCTCATCTA	0.478																																																	1	Substitution - coding silent(1)	urinary_tract(1)											153	154	154					16																	12758794		1886	4120	6006	SO:0001819	synonymous_variant	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.894G>C	16.37:g.12758794C>G			B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	pfam_Metallo_PEstase_dom	p.L298	ENST00000381774.4	37	c.894	CCDS42120.1	16																																																																																			CPPED1	-	NULL		0.478	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPPED1	HGNC	protein_coding	OTTHUMT00000395795.2	C	NM_018340		12758794	-1	no_errors	ENST00000381774	ensembl	human	known	70_37	silent	SNP	0.997	G	G	12758794	C	G	12758794	2	3	55	1	0	0	0	0	0	0	0	1	3827	813	29	1		1	CPPED1	16	12758794	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	9213965	12758794	77595959	138	7486										
UMOD	7369	genome.wustl.edu	37	chr16	20355366	20355366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctgaccattggctgtagggcGgtcttcaggctgactttcat	12	10	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:20355366G>A	ENST00000570689.1	-	6	1457	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396134.2_Silent_p.T470T			P07911	UROM_HUMAN	uromodulin	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537																																																	0													120	102	108					16																	20355366		2203	4300	6503	SO:0001819	synonymous_variant	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1311C>T	16.37:g.20355366G>A			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.T470	ENST00000570689.1	37	c.1410	CCDS10583.1	16																																																																																			UMOD	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	G			20355366	-1	no_errors	ENST00000424589	ensembl	human	known	70_37	silent	SNP	0.806	A	A	20355366	G	A	20355366	2	1	55	1	0	0	0	0	0	0	0	1	17010	1103	39	2		2	UMOD	16	20355366	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	7596572	20355366	69999387	139	7487										
EARS2	124454	genome.wustl.edu	37	chr16	23568536	23568536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccagggttacctgtggggctGggagcgaaccgcactcgcac	15	13	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:23568536G>A	ENST00000563459.1	-	1	135	c.129C>T	c.(127-129)ccC>ccT	p.P43P	EARS2_ENST00000449606.1_Silent_p.P43P|UBFD1_ENST00000219638.4_Missense_Mutation_p.G49R|UBFD1_ENST00000395878.3_5'Flank|EARS2_ENST00000564501.1_Silent_p.P43P|EARS2_ENST00000563232.1_Silent_p.P43P|UBFD1_ENST00000567264.1_5'Flank|UBFD1_ENST00000567212.1_5'Flank			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	43					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTGTGGGGCTGGGAGCGAACC	0.697																																																	0													11	16	14					16																	23568536		1957	4120	6077	SO:0001819	synonymous_variant	56061			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.129C>T	16.37:g.23568536G>A			B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.G49R	ENST00000563459.1	37	c.145	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329602	0.81690	.	.	ENSG00000103353	ENST00000219638	.	.	.	4.99	-2.22	0.06952	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.29941	N	0.821075	.	.	.	.	.	.	T	0.46414	-0.9193	5	0.87932	D	0	-3.6548	1.0521	0.01582	0.2575:0.2859:0.3102:0.1464	.	.	.	.	R	49	.	ENSP00000219638:G49R	G	+	1	0	UBFD1	23476037	0.955000	0.32602	0.995000	0.50966	0.832000	0.47134	-0.172000	0.09868	-0.111000	0.12001	-0.253000	0.11424	GGG	UBFD1	-	NULL		0.697	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000434844.1	G	NM_133451		23568536	1	no_errors	ENST00000219638	ensembl	human	known	70_37	missense	SNP	0.951	A	A	23568536	G	A	23568536	2	1	55	1	0	0	0	0	0	0	0	1	4888	1335	47	4		4	EARS2	16	23568536	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	3213170	23568536	66786217	140	7488										
CD19	930	genome.wustl.edu	37	chr16	28950050	28950050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgtatgcagccccccagctcCgctccattcggggccagcct	10	18	0	0	rs561262269		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:28950050C>A	ENST00000324662.3	+	13	1584	c.1540C>A	c.(1540-1542)Cgc>Agc	p.R514S	CD19_ENST00000538922.1_Missense_Mutation_p.R515S|CD19_ENST00000567541.1_Missense_Mutation_p.R515S			P15391	CD19_HUMAN	CD19 molecule	514			R -> H (in dbSNP:rs34763945). {ECO:0000269|PubMed:2459292, ECO:0000269|PubMed:2472450}.		B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCAGCTCCGCTCCATTCG	0.607																																																	0													73	71	72					16																	28950050		2197	4300	6497	SO:0001583	missense	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1540C>A	16.37:g.28950050C>A	ENSP00000313419:p.Arg514Ser		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.R515S	ENST00000324662.3	37	c.1543	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935837	0.73442	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.44482	0.92;0.92	5.09	4.07	0.47477	.	0.461095	0.18438	N	0.141218	T	0.42017	0.1184	L	0.27053	0.805	0.30749	N	0.745356	D;D	0.56746	0.977;0.961	P;P	0.55303	0.773;0.597	T	0.41538	-0.9503	10	0.72032	D	0.01	-9.6249	10.342	0.43884	0.1957:0.8043:0.0:0.0	.	515;514	F5H635;P15391	.;CD19_HUMAN	S	515;321;514;363	ENSP00000437940:R515S;ENSP00000313419:R514S	ENSP00000313419:R514S	R	+	1	0	CD19	28857551	0.736000	0.28164	0.980000	0.43619	0.976000	0.68499	0.717000	0.25851	2.524000	0.85096	0.591000	0.81541	CGC	CD19	-	NULL		0.607	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	C			28950050	1	no_errors	ENST00000538922	ensembl	human	known	70_37	missense	SNP	0.960	A	A	28950050	C	A	28950050	3	1	55	1	0	0	0	0	1	0	0	0	2978	652	23	2	1593	2	CD19	16	28950050	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	5381514	28950050	61404703	141	7489										
TAOK2	8479	genome.wustl.edu	37	chr16	30000973	30000973	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgtaagatccagactcggcaGtacaaggctctgcgagcaca	11	11	1	2	rs201513301		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:30000973G>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.Q764H	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						AGACTCGGCAGTACAAGGCTC	0.582																																																	0													75	67	70					16																	30000973		2197	4300	6497	SO:0001628	intergenic_variant	9344			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30000973G>T			H3BSR3|O75707|O75708	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q764H	ENST00000279392.3	37	c.2292	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896371	0.72639	.	.	ENSG00000149930	ENST00000279394	T	0.75050	-0.9	5.34	4.38	0.52667	.	.	.	.	.	D	0.86657	0.5985	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.88022	0.2769	8	.	.	.	.	12.1806	0.54210	0.0846:0.0:0.9154:0.0	.	764	Q9UL54-2	.	H	764	ENSP00000279394:Q764H	.	Q	+	3	2	TAOK2	29908474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.521000	0.67086	1.458000	0.47871	0.655000	0.94253	CAG	TAOK2	-	superfamily_Homeodomain-like		0.582	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255160.2	G	NM_003609		30000973	1	no_errors	ENST00000279394	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30000973	G	T	30000973	1	4	55	0	1	0	0	0	0	0	0	0	15578	1020	36	4		4	TAOK2	16	30000973	IGR	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1050923	30000973	60353780	142	7490										
GNAO1	2775	genome.wustl.edu	37	chr16	56370671	56370671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acgtcggaggccagcgatctGaacgcaagaagtggatccat	13	10	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:56370671G>C	ENST00000262493.6	+	6	1468	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	GNAO1_ENST00000262494.7_Missense_Mutation_p.E208Q	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	208					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCAGCGATCTGAACGCAAGAA	0.597																																																	0													94	69	77					16																	56370671		2198	4300	6498	SO:0001583	missense	2775				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.622G>C	16.37:g.56370671G>C	ENSP00000262493:p.Glu208Gln		P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E208Q	ENST00000262493.6	37	c.622	CCDS10756.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.352233	0.95830	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.90197	-2.63;-2.63	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.95770	0.8808	10	0.87932	D	0	.	18.9383	0.92595	0.0:0.0:1.0:0.0	.	208;208	P09471;P09471-2	GNAO_HUMAN;.	Q	208	ENSP00000262493:E208Q;ENSP00000262494:E208Q	ENSP00000262493:E208Q	E	+	1	0	GNAO1	54928172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.460000	0.83146	0.557000	0.71058	GAA	GNAO1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.597	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAO1	HGNC	protein_coding	OTTHUMT00000256981.2	G	NM_020988		56370671	1	no_errors	ENST00000262493	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56370671	G	C	56370671	3	2	55	1	0	0	0	0	1	0	0	0	6527	1291	45	1	644	1	GNAO1	16	56370671	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	26369698	56370671	33984082	143	7491										
C16orf80	29105	genome.wustl.edu	37	chr16	58149340	58149340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acttgcccgaaagcgacgacGcacattcttgtcatctagta	8	12	3	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:58149340G>A	ENST00000262498.3	-	4	632	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	C16orf80_ENST00000562443.1_5'UTR|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGCGACGACGCACATTCTTG	0.512																																					Pancreas(103;1212 1612 18629 30162 52390)												0													114	101	105					16																	58149340		2198	4300	6498	SO:0001583	missense	29105																														ENST00000262498.3:c.298C>T	16.37:g.58149340G>A	ENSP00000262498:p.Arg100Cys			Missense_Mutation	SNP	pfam_DUF667	p.R100C	ENST00000262498.3	37	c.298	CCDS10793.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.589867	0.96590	.	.	ENSG00000070761	ENST00000262498	T	0.50548	0.74	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	P	0.58970	0.849	T	0.79198	-0.1902	10	0.59425	D	0.04	-7.144	17.4545	0.87603	0.0:0.0:1.0:0.0	.	100	Q9Y6A4	CP080_HUMAN	C	100	ENSP00000262498:R100C	ENSP00000262498:R100C	R	-	1	0	C16orf80	56706841	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.310000	0.78947	2.793000	0.96121	0.655000	0.94253	CGT	C16orf80	-	pfam_DUF667		0.512	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf80	HGNC	protein_coding	OTTHUMT00000257388.2	G			58149340	-1	no_errors	ENST00000262498	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58149340	G	A	58149340	3	1	55	1	0	0	0	0	1	0	0	0	1841	1087	38	2	295	2	C16orf80	16	58149340	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1778669	58149340	32205413	144	7492										
CDH8	1006	genome.wustl.edu	37	chr16	61689423	61689423	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcaattaaggcgcccatactGagtccaattggaaggacata	10	9	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:61689423G>A	ENST00000577390.1	-	11	2811	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	CDH8_ENST00000577730.1_Silent_p.L619L|CDH8_ENST00000299345.6_Silent_p.L619L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	619					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CGCCCATACTGAGTCCAATTG	0.458																																																	0													122	101	108					16																	61689423		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1857C>T	16.37:g.61689423G>A			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L619	ENST00000577390.1	37	c.1857	CCDS10802.1	16																																																																																			CDH8	-	NULL		0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	G	NM_001796		61689423	-1	no_errors	ENST00000577390	ensembl	human	known	70_37	silent	SNP	1.000	A	A	61689423	G	A	61689423	2	1	55	1	0	0	0	0	0	0	0	1	3121	1277	45	1		1	CDH8	16	61689423	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	3540083	61689423	28665330	145	7493										
PMFBP1	83449	genome.wustl.edu	37	chr16	72162565	72162565	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgtctactcacctctttattCaagtcttggatgacttgctg	7	10	5	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:72162565C>G	ENST00000237353.10	-	14	2340	c.2079G>C	c.(2077-2079)ttG>ttC	p.L693F	PMFBP1_ENST00000355636.6_Missense_Mutation_p.L548F|PMFBP1_ENST00000537465.1_Missense_Mutation_p.L698F	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	698						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCTTTATTCAAGTCTTGGA	0.458																																																	0													122	106	111					16																	72162565		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2079G>C	16.37:g.72162565C>G	ENSP00000237353:p.Leu693Phe		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.L698F	ENST00000237353.10	37	c.2094	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603256	0.66445	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.12774	2.65;2.65;2.65	5.41	-0.185	0.13276	.	0.000000	0.40469	N	0.001082	T	0.16896	0.0406	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69142	0.962;0.962;0.962	T	0.13629	-1.0502	10	0.27785	T	0.31	-12.4457	4.6622	0.12648	0.0:0.4152:0.3103:0.2746	.	698;693;698	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	F	698;693;548	ENSP00000443817:L698F;ENSP00000237353:L693F;ENSP00000347854:L548F	ENSP00000237353:L693F	L	-	3	2	PMFBP1	70720066	0.030000	0.19436	0.277000	0.24703	0.553000	0.35397	-0.239000	0.08965	-0.132000	0.11557	0.655000	0.94253	TTG	PMFBP1	-	NULL		0.458	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	C	NM_031293		72162565	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	missense	SNP	0.010	G	G	72162565	C	G	72162565	3	3	55	1	0	0	0	0	1	0	0	0	12158	825	29	1	1036	1	PMFBP1	16	72162565	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	10473142	72162565	18192188	146	7494										
MYBBP1A	10514	genome.wustl.edu	37	chr17	4443660	4443660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tactggactcccagggttttCatggcctgccagtagaggtc	12	11	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:4443660C>T	ENST00000254718.4	-	25	3723	c.3417G>A	c.(3415-3417)atG>atA	p.M1139I	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.M1139I			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1139					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CCAGGGTTTTCATGGCCTGCC	0.647																																																	0													77	72	74					17																	4443660		2203	4300	6503	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3417G>A	17.37:g.4443660C>T	ENSP00000254718:p.Met1139Ile		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.M1139I	ENST00000254718.4	37	c.3417	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699290	0.88830	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.20598	2.06;2.06	4.73	4.73	0.59995	.	0.174679	0.64402	D	0.000013	T	0.24314	0.0589	L	0.36672	1.1	0.43750	D	0.996253	P;D	0.53745	0.936;0.962	B;P	0.49829	0.418;0.623	T	0.00484	-1.1712	10	0.41790	T	0.15	-49.4231	13.3986	0.60870	0.0:1.0:0.0:0.0	.	1139;1139	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	I	1139	ENSP00000370968:M1139I;ENSP00000254718:M1139I	ENSP00000254718:M1139I	M	-	3	0	MYBBP1A	4390409	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	4.701000	0.61810	2.615000	0.88500	0.555000	0.69702	ATG	MYBBP1A	-	NULL		0.647	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	C	NM_014520		4443660	-1	no_errors	ENST00000381556	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4443660	C	T	4443660	3	4	55	1	0	0	0	0	1	0	0	0	10031	826	29	1	617	1	MYBBP1A	17	4443660	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		4443660	76751550	147	7495										
MYH10	4628	genome.wustl.edu	37	chr17	8408154	8408154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttcaaagtcttcctgaagttCagcaatttgggcttgtagct	9	8	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:8408154C>T	ENST00000269243.4	-	26	3502	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1143K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1153K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1138K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1122					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTGAAGTTCAGCAATTTGG	0.468																																																	0													199	189	192					17																	8408154		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3364G>A	17.37:g.8408154C>T	ENSP00000269243:p.Glu1122Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1143K	ENST00000269243.4	37	c.3427	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775734	0.70107	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	H	0.95079	3.62	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.68039	0.955;0.925;0.955	D	0.96747	0.9551	10	0.87932	D	0	.	18.2878	0.90120	0.0:1.0:0.0:0.0	.	1131;1153;1122	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1122;1153;1143;1138	ENSP00000269243:E1122K;ENSP00000353590:E1153K;ENSP00000379539:E1143K;ENSP00000369315:E1138K	ENSP00000269243:E1122K	E	-	1	0	MYH10	8348879	1.000000	0.71417	0.061000	0.19648	0.050000	0.14768	7.609000	0.82925	2.551000	0.86045	0.563000	0.77884	GAA	MYH10	-	pfam_Myosin_tail		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8408154	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8408154	C	T	8408154	3	4	55	1	0	0	0	0	1	0	0	0	10053	835	29	1	2630	1	MYH10	17	8408154	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	3964494	8408154	72787056	148	7496										
GLP2R	9340	genome.wustl.edu	37	chr17	9783806	9783806	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcaaaacttatacgacttttCattcagttgacactgagctc	6	10	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:9783806C>T	ENST00000262441.5	+	11	1770	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	GLP2R_ENST00000574745.1_Silent_p.F239F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	419					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACGACTTTTCATTCAGTTGA	0.403																																																	0													150	138	142					17																	9783806		2203	4300	6503	SO:0001819	synonymous_variant	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1257C>T	17.37:g.9783806C>T			Q4VAT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F419	ENST00000262441.5	37	c.1257	CCDS11150.1	17																																																																																			GLP2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.403	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	C			9783806	1	no_errors	ENST00000262441	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9783806	C	T	9783806	2	4	55	1	0	0	0	0	0	0	0	1	6472	825	29	1		1	GLP2R	17	9783806	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1375652	9783806	71411404	149	7497										
LLGL1	3996	genome.wustl.edu	37	chr17	18141887	18141887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	actccttgtcgggtgtcgtgCgttgcctatactttgccgac	11	12	0	0	rs138380942		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:18141887C>T	ENST00000316843.4	+	16	2266	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	724					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGGTGTCGTGCGTTGCCTATA	0.647																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	46	50		2170	2.4	0.6	17	dbSNP_134	50	0,8600		0,0,4300	no	missense	LLGL1	NM_004140.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	724/1065	18141887	1,13005	2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2170C>T	17.37:g.18141887C>T	ENSP00000321537:p.Arg724Cys		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.R724C	ENST00000316843.4	37	c.2170	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100489	0.56183	2.27E-4	0.0	ENSG00000131899	ENST00000316843	T	0.36340	1.26	5.52	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56432	-0.7980	10	0.51188	T	0.08	-26.6608	8.1233	0.30984	0.1294:0.7346:0.0:0.136	.	724	Q15334	L2GL1_HUMAN	C	724	ENSP00000321537:R724C	ENSP00000321537:R724C	R	+	1	0	LLGL1	18082612	1.000000	0.71417	0.550000	0.28217	0.201000	0.24016	5.848000	0.69458	0.287000	0.22375	0.561000	0.74099	CGT	LLGL1	-	superfamily_WD40_repeat_dom		0.647	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	C			18141887	1	no_errors	ENST00000316843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18141887	C	T	18141887	3	4	55	1	0	0	0	0	1	0	0	0	8854	768	27	2	2232	2	LLGL1	17	18141887	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	8358081	18141887	63053323	150	7498										
SLC47A2	146802	genome.wustl.edu	37	chr17	19584766	19584767	+	Frame_Shift_Ins	INS	-	-	C													0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acacaggccagcatgcccagINSccagaggcctggaggagaca							TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:19584766_19584767insC	ENST00000325411.5	-	15	1463_1464	c.1413_1414insG	c.(1411-1416)tggctgfs	p.L472fs	SLC47A2_ENST00000350657.5_Frame_Shift_Ins_p.L450fs|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	472					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	AGCATGCCCAGCCAGAGGCCTG	0.569																																																	0																																										SO:0001589	frameshift_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1414dupG	17.37:g.19584768_19584768dupC	ENSP00000326671:p.Leu472fs		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Frame_Shift_Ins	INS	pfam_MATE,tigrfam_MATE	p.L471fs	ENST00000325411.5	37	c.1414_1413	CCDS11211.1	17																																																																																			SLC47A2	-	tigrfam_MATE		0.569	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	-	NM_152908		19584767	-1	no_errors	ENST00000325411	ensembl	human	known	70_37	frame_shift_ins	INS	0.997:1.000	C	C	19584767	-	C	19584766	7	5	55	1	0	1	1	0	0	0	0	0	14678	962	34	0	406	0	SLC47A2	17	19584766	Frame_Shift_Ins	INS	-	TCGA-DG-A2KL-01A-11D-A17W-09	1442879	19584766	61610444	151	7499										
CYTSB	92521	genome.wustl.edu	37	chr17	20156869	20156869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccagcagaggggtgactcaaCgcttggaccttcctgacctt	11	13	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:20156869C>T	ENST00000261503.5	+	10	2701	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.R803C|SPECC1_ENST00000536879.1_Missense_Mutation_p.R224C|SPECC1_ENST00000395527.4_Missense_Mutation_p.R884C	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	884					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTGACTCAACGCTTGGACCT	0.473																																																	0													100	80	87					17																	20156869		2203	4300	6503	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2650C>T	17.37:g.20156869C>T	ENSP00000261503:p.Arg884Cys		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R884C	ENST00000261503.5	37	c.2650	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588099	0.46110	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;T;T	0.95412	-3.7;0.52;0.52	4.68	2.62	0.31277	.	0.378995	0.29106	N	0.013135	D	0.95589	0.8566	L	0.53249	1.67	0.09310	N	0.999999	P;D;D	0.67145	0.939;0.996;0.996	P;P;P	0.58577	0.513;0.719;0.841	D	0.90275	0.4310	10	0.66056	D	0.02	-3.5831	11.4706	0.50266	0.0:0.656:0.344:0.0	.	884;803;884	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	C	884;884;224;803	ENSP00000378901:R884C;ENSP00000261503:R884C;ENSP00000438294:R224C	ENSP00000261503:R884C	R	+	1	0	SPECC1	20097461	0.011000	0.17503	0.001000	0.08648	0.027000	0.11550	1.583000	0.36579	0.667000	0.31107	0.650000	0.86243	CGC	SPECC1	-	NULL		0.473	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	C	NM_152904		20156869	1	no_errors	ENST00000261503	ensembl	human	known	70_37	missense	SNP	0.001	T	T	20156869	C	T	20156869	3	4	55	1	0	0	0	0	1	0	0	0	4215	536	19	2	2754	2	CYTSB	17	20156869	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	572103	20156869	61038341	152	7500										
NOS2	4843	genome.wustl.edu	37	chr17	26100236	26100236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tctcttgggtctccgcttctCgtcctgccagacatgggttt	10	13	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:26100236C>T	ENST00000313735.6	-	13	1743	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	504					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTCCGCTTCTCGTCCTGCCAG	0.542																																																	0													291	257	269					17																	26100236		2203	4300	6503	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1510G>A	17.37:g.26100236C>T	ENSP00000327251:p.Glu504Lys		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E504K	ENST00000313735.6	37	c.1510	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	6.654	0.489089	0.12641	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01665	4.7	5.41	2.29	0.28610	.	0.469877	0.20837	N	0.084777	T	0.02119	0.0066	M	0.62723	1.935	0.31781	N	0.63094	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.34403	-0.9830	10	0.09338	T	0.73	.	7.7127	0.28688	0.0:0.714:0.1347:0.1512	.	504;504	F8WEM3;P35228	.;NOS2_HUMAN	K	504;465;504	ENSP00000327251:E504K	ENSP00000305638:E504K	E	-	1	0	NOS2	23124363	0.926000	0.31397	0.005000	0.12908	0.658000	0.38924	1.818000	0.39012	0.247000	0.21414	-0.254000	0.11334	GAG	NOS2	-	pirsf_NOS_met		0.542	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	C	NM_000625		26100236	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	missense	SNP	0.659	T	T	26100236	C	T	26100236	3	4	55	1	0	0	0	0	1	0	0	0	10567	893	31	1	2011	1	NOS2	17	26100236	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	5943367	26100236	55094974	153	7501										
HNF1B	6928	genome.wustl.edu	37	chr17	36059118	36059118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	atgttggtgagtgtactgatGctgctggtatctgtgaccac	13	7	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:36059118G>T	ENST00000225893.4	-	8	1978	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	HNF1B_ENST00000561193.1_Missense_Mutation_p.S513R|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	539					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGTACTGATGCTGCTGGTAT	0.537																																					Colon(71;102 1179 9001 27917 43397)												0													152	126	135					17																	36059118		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1617C>A	17.37:g.36059118G>T	ENSP00000225893:p.Ser539Arg		B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.S539R	ENST00000225893.4	37	c.1617	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698303	0.68386	.	.	ENSG00000108753	ENST00000225893;ENST00000539087	D	0.97811	-4.55	5.63	4.65	0.58169	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.69823	2.125	0.80722	D	1	D;D	0.58970	0.966;0.984	P;P	0.62184	0.773;0.899	D	0.97959	1.0336	10	0.62326	D	0.03	-3.6519	14.5893	0.68351	0.0735:0.0:0.9265:0.0	.	513;539	E0YMJ6;P35680	.;HNF1B_HUMAN	R	539;427	ENSP00000225893:S539R	ENSP00000225893:S539R	S	-	3	2	HNF1B	33133231	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	5.301000	0.65727	2.826000	0.97356	0.655000	0.94253	AGC	HNF1B	-	pfam_HNF1b_C		0.537	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	G	NM_000458		36059118	-1	no_errors	ENST00000225893	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36059118	G	T	36059118	3	4	55	1	0	0	0	0	1	0	0	0	7272	1310	46	4	64	4	HNF1B	17	36059118	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	9958882	36059118	45136092	154	7502										
SLC38A10	124565	genome.wustl.edu	37	chr17	79226316	79226316	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctctctttctgagtcgggcaGaggcggcgccatctggccct	13	14	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:79226316G>A	ENST00000374759.3	-	13	2007	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L	SLC38A10_ENST00000288439.5_Silent_p.L542L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	542					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGTCGGGCAGAGGCGGCGCC	0.622																																																	0													50	52	51					17																	79226316		2203	4300	6503	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1624C>T	17.37:g.79226316G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.L542	ENST00000374759.3	37	c.1624	CCDS42397.1	17																																																																																			SLC38A10	-	NULL		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	G	NM_138570		79226316	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	silent	SNP	0.013	A	A	79226316	G	A	79226316	2	1	55	1	0	0	0	0	0	0	0	1	14632	933	33	1		1	SLC38A10	17	79226316	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	43167198	79226316	1968894	155	7503										
ZNF521	25925	genome.wustl.edu	37	chr18	22804821	22804821	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctgcatgcacaccacgcagcGaaagcctgtcagggaattcc	10	14	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:22804821G>C	ENST00000361524.3	-	4	3209	c.3061C>G	c.(3061-3063)Cgc>Ggc	p.R1021G	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021G|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACCACGCAGCGAAAGCCTGTC	0.507			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													75	65	68					18																	22804821		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3061C>G	18.37:g.22804821G>C	ENSP00000354794:p.Arg1021Gly		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1021G	ENST00000361524.3	37	c.3061	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968375	0.34754	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.91;2.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.00581	-1.1660	10	0.35671	T	0.21	-45.0411	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1021	Q96K83	ZN521_HUMAN	G	1021;1055;1021	ENSP00000354794:R1021G;ENSP00000382352:R1021G	ENSP00000354794:R1021G	R	-	1	0	ZNF521	21058819	1.000000	0.71417	0.976000	0.42696	0.979000	0.70002	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGC	ZNF521	-	smart_Znf_C2H2-like		0.507	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	G	NM_015461		22804821	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22804821	G	C	22804821	3	2	55	1	0	0	0	0	1	0	0	0	17995	1058	37	1	894	1	ZNF521	18	22804821	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		22804821	55272427	156	7504										
SLC14A2	8170	genome.wustl.edu	37	chr18	43224034	43224034	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acaaacaacccagccatcttCagactcccactcagcaaagt	4	16	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:43224034C>T	ENST00000255226.6	+	10	2076	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.F420F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	420					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCATCTTCAGACTCCCAC	0.562																																																	0													198	188	191					18																	43224034		2203	4300	6503	SO:0001819	synonymous_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1260C>T	18.37:g.43224034C>T			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	pfam_Urea_transporter	p.F420	ENST00000255226.6	37	c.1260	CCDS11924.1	18																																																																																			SLC14A2	-	pfam_Urea_transporter		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	C			43224034	1	no_errors	ENST00000255226	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43224034	C	T	43224034	2	4	55	1	0	0	0	0	0	0	0	1	14427	825	29	1		1	SLC14A2	18	43224034	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	20419213	43224034	34853214	157	7505										
ME2	4200	genome.wustl.edu	37	chr18	48442582	48442582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cagaggtcatgttagatcaaTtgtggataactggccagaaa	11	6	2	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:48442582T>C	ENST00000321341.5	+	5	709	c.437T>C	c.(436-438)aTt>aCt	p.I146T	ME2_ENST00000382927.3_Missense_Mutation_p.I146T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	146					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GTTAGATCAATTGTGGATAAC	0.348																																																	0													188	181	183					18																	48442582		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.437T>C	18.37:g.48442582T>C	ENSP00000321070:p.Ile146Thr		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.I146T	ENST00000321341.5	37	c.437	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770743	0.69992	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.64997	1.995	0.53688	D	0.999977	D;D	0.64830	0.993;0.994	D;D	0.72075	0.967;0.976	T	0.65063	-0.6259	10	0.87932	D	0	-24.5504	15.1301	0.72517	0.0:0.0:0.0:1.0	.	146;146	Q9BWL6;P23368	.;MAOM_HUMAN	T	146	ENSP00000321070:I146T;ENSP00000372384:I146T	ENSP00000321070:I146T	I	+	2	0	ME2	46696580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.215000	0.77966	2.213000	0.71641	0.528000	0.53228	ATT	ME2	-	pfam_Malic_N		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	T	NM_002396		48442582	1	no_errors	ENST00000321341	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48442582	T	C	48442582	3	2	55	1	0	0	0	0	1	0	0	0	9441	1493	52	5	451	5	ME2	18	48442582	Missense_Mutation	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	5218548	48442582	29634666	158	7506										
PHLPP1	23239	genome.wustl.edu	37	chr18	60587256	60587256	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	accagttggcaaggctgcctGaaaggctagaaagaacctcg	12	10	0	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:60587256G>C	ENST00000262719.5	+	10	3103	c.2869G>C	c.(2869-2871)Gaa>Caa	p.E957Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E445Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	957					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AAGGCTGCCTGAAAGGCTAGA	0.463																																																	0													52	52	52					18																	60587256		1864	4096	5960	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2869G>C	18.37:g.60587256G>C	ENSP00000262719:p.Glu957Gln		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.E957Q	ENST00000262719.5	37	c.2869	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255911	0.59321	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.47869	0.83;2.16	5.43	4.55	0.56014	.	.	.	.	.	T	0.56659	0.2000	L	0.45698	1.435	0.50813	D	0.999892	D	0.71674	0.998	P	0.59761	0.863	T	0.52866	-0.8518	9	0.27785	T	0.31	-11.2246	15.472	0.75446	0.0:0.0:0.8601:0.1399	.	957	O60346	PHLP1_HUMAN	Q	445;957	ENSP00000383170:E445Q;ENSP00000262719:E957Q	ENSP00000262719:E957Q	E	+	1	0	PHLPP1	58738236	1.000000	0.71417	0.402000	0.26371	0.557000	0.35523	9.163000	0.94750	1.272000	0.44329	0.591000	0.81541	GAA	PHLPP1	-	smart_Leu-rich_rpt_typical-subtyp		0.463	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60587256	1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	0.995	C	C	60587256	G	C	60587256	3	2	55	1	0	0	0	0	1	0	0	0	11878	1291	45	1	2907	1	PHLPP1	18	60587256	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	12144674	60587256	17489992	159	7507										
ZNF407	55628	genome.wustl.edu	37	chr18	72345774	72345774	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agccttgaagctggtaaaaaGaatgctggctcagcagtgac	12	8	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:72345774G>C	ENST00000299687.5	+	1	2799	c.2799G>C	c.(2797-2799)aaG>aaC	p.K933N	ZNF407_ENST00000309902.6_Missense_Mutation_p.K933N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K933N|ZNF407_ENST00000582337.1_Missense_Mutation_p.K933N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGGTAAAAAGAATGCTGGCT	0.458																																																	0													66	66	66					18																	72345774		1910	4125	6035	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2799G>C	18.37:g.72345774G>C	ENSP00000299687:p.Lys933Asn		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.K933N	ENST00000299687.5	37	c.2799	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	7.243	0.601678	0.13939	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12465	2.68;3.08	5.84	4.04	0.47022	.	0.486127	0.18989	N	0.125641	T	0.14442	0.0349	L	0.27053	0.805	0.25165	N	0.990327	P;P;P	0.52842	0.956;0.923;0.875	P;P;B	0.51016	0.656;0.463;0.357	T	0.10894	-1.0610	10	0.22109	T	0.4	.	11.4221	0.49987	0.0656:0.0:0.8082:0.1262	.	933;933;933	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	933	ENSP00000299687:K933N;ENSP00000310359:K933N	ENSP00000299687:K933N	K	+	3	2	ZNF407	70474762	0.225000	0.23685	0.004000	0.12327	0.009000	0.06853	0.957000	0.29215	1.011000	0.39340	0.455000	0.32223	AAG	ZNF407	-	NULL		0.458	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	G	NM_017757		72345774	1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.718	C	C	72345774	G	C	72345774	3	2	55	1	0	0	0	0	1	0	0	0	17917	933	33	1	2801	1	ZNF407	18	72345774	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	11758518	72345774	5731474	160	7508										
MED16	10025	genome.wustl.edu	37	chr19	879963	879963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtggctgtcaatccccaccaGggccagtgacgtccacgata	11	14	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:879963G>A	ENST00000589119.1	-	7	1326	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.L443L|MED16_ENST00000395808.3_Silent_p.L443L|MED16_ENST00000325464.1_Silent_p.L443L|MED16_ENST00000312090.6_Silent_p.L443L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	443					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCACCAGGGCCAGTGAC	0.687																																																	0													15	13	13					19																	879963		2162	4264	6426	SO:0001819	synonymous_variant	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1327C>T	19.37:g.879963G>A			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L443	ENST00000589119.1	37	c.1327	CCDS12047.1	19																																																																																			MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom		0.687	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	G	NM_005481		879963	-1	no_errors	ENST00000325464	ensembl	human	known	70_37	silent	SNP	1.000	A	A	879963	G	A	879963	2	1	55	1	0	0	0	0	0	0	0	1	9457	991	35	4		4	MED16	19	879963	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		879963	58249020	161	7509										
TMPRSS9	360200	genome.wustl.edu	37	chr19	2421914	2421914	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtgttttatctggcagggatCgtgagctggggtattggctg	17	5	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:2421914C>A	ENST00000332578.3	+	13	2115	c.2115C>A	c.(2113-2115)atC>atA	p.I705I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	705	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGGGATCGTGAGCTGGG	0.612																																																	0													68	68	68					19																	2421914		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2115C>A	19.37:g.2421914C>A			Q6ZND6|Q7Z411	Silent	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.I705	ENST00000332578.3	37	c.2115	CCDS12088.1	19																																																																																			TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.612	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	C	NM_182973		2421914	1	no_errors	ENST00000332578	ensembl	human	known	70_37	silent	SNP	0.721	A	A	2421914	C	A	2421914	2	1	55	1	0	0	0	0	0	0	0	1	16283	874	31	3		3	TMPRSS9	19	2421914	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1541951	2421914	56707069	162	7510										
ZNF556	80032	genome.wustl.edu	37	chr19	2877793	2877793	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcctttcgagtccatatgatCatgcacgccggagggagacc	11	12	1	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:2877793C>T	ENST00000307635.2	+	4	924	c.837C>T	c.(835-837)atC>atT	p.I279I	ZNF556_ENST00000586426.1_Silent_p.I278I	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATATGATCATGCACGCCG	0.537																																																	0													61	55	57					19																	2877793		2203	4300	6503	SO:0001819	synonymous_variant	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.837C>T	19.37:g.2877793C>T			Q96GM3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I279	ENST00000307635.2	37	c.837	CCDS12097.1	19																																																																																			ZNF556	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.537	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	C	NM_024967		2877793	1	no_errors	ENST00000307635	ensembl	human	known	70_37	silent	SNP	0.217	T	T	2877793	C	T	2877793	2	4	55	1	0	0	0	0	0	0	0	1	18017	816	29	1		1	ZNF556	19	2877793	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	455879	2877793	56251190	163	7511										
ZNF77	58492	genome.wustl.edu	37	chr19	2934414	2934414	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	actttacatgcatgggttttCtgcccatgatgactattcac	7	10	2	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:2934414C>T	ENST00000314531.4	-	4	803	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGGTTTTCTGCCCATGAT	0.408																																																	0													68	67	67					19																	2934414		2203	4300	6503	SO:0001819	synonymous_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.711G>A	19.37:g.2934414C>T			Q86XJ3|Q9NPP0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q237	ENST00000314531.4	37	c.711	CCDS12099.1	19																																																																																			ZNF77	-	pfscan_Znf_C2H2		0.408	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	C	NM_021217		2934414	-1	no_errors	ENST00000314531	ensembl	human	known	70_37	silent	SNP	0.995	T	T	2934414	C	T	2934414	2	4	55	1	0	0	0	0	0	0	0	1	18172	912	32	1		1	ZNF77	19	2934414	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	56621	2934414	56194569	164	7512										
FZR1	51343	genome.wustl.edu	37	chr19	3532541	3532541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	cctcggggggcggcacagctGaccgctgtatccgcttctgg	15	14	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:3532541G>C	ENST00000395095.3	+	10	1135	c.1135G>C	c.(1135-1137)Gac>Cac	p.D379H	FZR1_ENST00000313639.8_Missense_Mutation_p.D290H|FZR1_ENST00000441788.2_Missense_Mutation_p.D379H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	379					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCACAGCTGACCGCTGTAT	0.652																																																	0													37	38	38					19																	3532541		2203	4300	6503	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1135G>C	19.37:g.3532541G>C	ENSP00000378529:p.Asp379His		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D379H	ENST00000395095.3	37	c.1135	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	g	19.95	3.920982	0.73213	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	D;D;D	0.89415	-2.51;-2.51;-2.51	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.99906	4.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.953	D	0.99751	1.1018	10	0.87932	D	0	-41.7024	17.0096	0.86401	0.0:0.0:1.0:0.0	.	379;290;379	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	379;379;290	ENSP00000410369:D379H;ENSP00000378529:D379H;ENSP00000321800:D290H	ENSP00000321800:D290H	D	+	1	0	FZR1	3483541	1.000000	0.71417	0.955000	0.39395	0.369000	0.29798	9.512000	0.98008	2.353000	0.79882	0.537000	0.68136	GAC	FZR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.652	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	G	NM_016263		3532541	1	no_errors	ENST00000395095	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3532541	G	C	3532541	3	2	55	1	0	0	0	0	1	0	0	0	6156	1290	45	1	1173	1	FZR1	19	3532541	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	598127	3532541	55596442	165	7513										
FUT3	2525	genome.wustl.edu	37	chr19	5844263	5844263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tccggcttccagttggacacCgcccaggccaccagctcggt	11	17	0	0	rs139116734	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:5844263C>T	ENST00000303225.6	-	3	1222	c.588G>A	c.(586-588)gcG>gcA	p.A196A	FUT3_ENST00000589918.1_Silent_p.A196A|FUT3_ENST00000589620.1_Silent_p.A196A|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Silent_p.A196A	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	196					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGTTGGACACCGCCCAGGCCA	0.672																																					Esophageal Squamous(82;745 1728 24593 44831)												0								C	,,,	0,4404		0,0,2202	43	44	44		588,588,588,588	-4.4	0.9	19	dbSNP_134	44	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,	196/362,196/362,196/362,196/362	5844263	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.588G>A	19.37:g.5844263C>T			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	pfam_Glyco_trans_10	p.A196	ENST00000303225.6	37	c.588	CCDS12153.1	19																																																																																			FUT3	-	pfam_Glyco_trans_10		0.672	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	C	NM_000149		5844263	-1	no_errors	ENST00000303225	ensembl	human	known	70_37	silent	SNP	0.910	T	T	5844263	C	T	5844263	2	4	55	1	0	0	0	0	0	0	0	1	6123	639	23	2		2	FUT3	19	5844263	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	2311722	5844263	53284720	166	7514										
OR7G1	125962	genome.wustl.edu	37	chr19	9226128	9226128	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tccaagccagcaaaaaccaaGacaagacagatctgggtgag	10	10	1	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:9226128G>C	ENST00000541538.1	-	1	311	c.312C>G	c.(310-312)gtC>gtG	p.V104V	OR7G1_ENST00000293614.1_Silent_p.V104V	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CAAAAACCAAGACAAGACAGA	0.483																																																	0													181	183	182					19																	9226128		2203	4300	6503	SO:0001819	synonymous_variant	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.312C>G	19.37:g.9226128G>C			Q6IFJ5|Q96RA1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V104	ENST00000541538.1	37	c.312	CCDS32898.2	19																																																																																			OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	G			9226128	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	silent	SNP	0.000	C	C	9226128	G	C	9226128	2	2	55	1	0	0	0	0	0	0	0	1	11246	929	33	1		1	OR7G1	19	9226128	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	3381865	9226128	49902855	167	7515										
OR7E24	26648	genome.wustl.edu	37	chr19	9362120	9362120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tatggatgacatgctcctgaGtgtgatggcctatgaccggt	13	8	0	4	rs201058180		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:9362120G>T	ENST00000456448.1	+	1	515	c.401G>T	c.(400-402)aGt>aTt	p.S134I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGCTCCTGAGTGTGATGGCC	0.478																																																	0													124	128	127					19																	9362120		2199	4300	6499	SO:0001583	missense	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.401G>T	19.37:g.9362120G>T	ENSP00000387523:p.Ser134Ile		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S134I	ENST00000456448.1	37	c.401	CCDS45955.1	19	.	.	.	.	.	.	.	.	.	.	g	7.468	0.646156	0.14451	.	.	ENSG00000237521	ENST00000456448	T	0.00856	5.61	2.39	0.0262	0.14149	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00998	0.0033	L	0.28192	0.835	0.09310	N	1	B	0.33022	0.394	B	0.30401	0.115	T	0.48990	-0.8985	9	0.72032	D	0.01	.	12.2993	0.54866	0.0:0.8201:0.1799:0.0	.	134	Q6IFN5	O7E24_HUMAN	I	134	ENSP00000387523:S134I	ENSP00000387523:S134I	S	+	2	0	OR7E24	9223120	0.000000	0.05858	0.035000	0.18076	0.062000	0.15995	0.122000	0.15687	-0.035000	0.13691	-1.799000	0.00621	AGT	OR7E24	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	HGNC	protein_coding	OTTHUMT00000449006.1	G			9362120	1	no_errors	ENST00000456448	ensembl	human	known	70_37	missense	SNP	0.042	T	T	9362120	G	T	9362120	3	4	55	1	0	0	0	0	1	0	0	0	11245	1029	36	4	403	4	OR7E24	19	9362120	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	135992	9362120	49766863	168	7516										
YIPF2	78992	genome.wustl.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																																	0																																										SO:0001651	inframe_deletion	78992			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del			In_Frame_Del	DEL	pfam_Yip1	p.Q74in_frame_del	ENST00000586748.1	37	c.223_221	CCDS12251.1	19																																																																																			YIPF2	-	NULL		0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	GCT	NM_024029		11038364	-1	no_errors	ENST00000253031	ensembl	human	known	70_37	in_frame_del	DEL	0.404:0.366:0.337	-	-	11038364	GCT	-	11038362	7	5	55	1	0	1	0	1	0	0	0	0	17509	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-DG-A2KL-01A-11D-A17W-09	1676242	11038362	48090621	169	7517										
ZNF799	90576	genome.wustl.edu	37	chr19	12502748	12502748	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcctctcatgtgtttgaagtGagttgtggtaactgaaggct	13	6	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:12502748G>C	ENST00000430385.3	-	4	664	c.464C>G	c.(463-465)tCa>tGa	p.S155*	ZNF799_ENST00000419318.1_Nonsense_Mutation_p.S123*|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGTTTGAAGTGAGTTGTGGTA	0.423																																																	0													186	173	177					19																	12502748		2203	4300	6503	SO:0001587	stop_gained	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.464C>G	19.37:g.12502748G>C	ENSP00000411084:p.Ser155*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S155*	ENST00000430385.3	37	c.464	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.741385	0.97805	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	.	.	.	1.2	-2.05	0.07321	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	3.6166	0.08079	0.0:0.2359:0.291:0.473	.	.	.	.	X	123;155	.	ENSP00000415278:S123X	S	-	2	0	ZNF799	12363748	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-2.247000	0.01190	-0.467000	0.06932	0.430000	0.28490	TCA	ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	G	NM_001080821		12502748	-1	no_errors	ENST00000430385	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	12502748	G	C	12502748	4	2	55	1	0	0	0	0	0	1	0	0	18196	1294	45	1	1471	1	ZNF799	19	12502748	Nonsense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1464386	12502748	46626235	170	7518										
MAST1	22983	genome.wustl.edu	37	chr19	12958773	12958773	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcatccaccaccagatcatcGagctggcccgggactgcctg	10	16	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:12958773G>C	ENST00000251472.4	+	7	715	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	MAST1_ENST00000591495.1_Missense_Mutation_p.E222Q	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGATCATCGAGCTGGCCCG	0.592																																																	0													62	48	53					19																	12958773		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.676G>C	19.37:g.12958773G>C	ENSP00000251472:p.Glu226Gln			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E226Q	ENST00000251472.4	37	c.676	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971473	0.92919	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.49432	0.78	5.02	3.97	0.46021	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.063986	0.64402	D	0.000013	T	0.71863	0.3390	M	0.88842	2.985	0.49915	D	0.999832	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.77859	-0.2431	10	0.87932	D	0	-14.4457	12.8393	0.57793	0.0:0.0:0.835:0.165	.	226;226	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	Q	226	ENSP00000251472:E226Q	ENSP00000251472:E226Q	E	+	1	0	MAST1	12819773	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	1.239000	0.43787	0.491000	0.48974	GAG	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12958773	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12958773	G	C	12958773	3	2	55	1	0	0	0	0	1	0	0	0	9347	1059	37	1	702	1	MAST1	19	12958773	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	456025	12958773	46170210	171	7519										
IL27RA	9466	genome.wustl.edu	37	chr19	14153355	14153355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	acaaagtgtatggccgctgcCggatggagaaagaagaggat	15	6	0	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:14153355C>T	ENST00000263379.2	+	5	750	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	209	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGGCCGCTGCCGGATGGAGAA	0.562											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)												0													94	98	96					19																	14153355		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.625C>T	19.37:g.14153355C>T	ENSP00000263379:p.Arg209Trp	692	A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R209W	ENST00000263379.2	37	c.625	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499447	0.44455	.	.	ENSG00000104998	ENST00000263379	T	0.56444	0.46	4.69	3.63	0.41609	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.991351	0.08174	N	0.986521	T	0.49474	0.1559	N	0.24115	0.695	0.25642	N	0.986197	D	0.69078	0.997	P	0.50754	0.649	T	0.41251	-0.9519	10	0.66056	D	0.02	.	10.5966	0.45341	0.1933:0.8067:0.0:0.0	.	209	Q6UWB1	I27RA_HUMAN	W	209	ENSP00000263379:R209W	ENSP00000263379:R209W	R	+	1	2	IL27RA	14014355	0.924000	0.31332	0.729000	0.30791	0.120000	0.20174	1.351000	0.34022	1.254000	0.44035	0.655000	0.94253	CGG	IL27RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.562	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	C	NM_004843		14153355	1	no_errors	ENST00000263379	ensembl	human	known	70_37	missense	SNP	0.890	T	T	14153355	C	T	14153355	3	4	55	1	0	0	0	0	1	0	0	0	7701	643	23	2	643	2	IL27RA	19	14153355	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1194582	14153355	44975628	172	7520										
COMP	1311	genome.wustl.edu	37	chr19	18899092	18899092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gatgccatcgcggtccacatCctcctgccctgagttgggca	11	15	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:18899092C>T	ENST00000222271.2	-	9	948	c.904G>A	c.(904-906)Gat>Aat	p.D302N	COMP_ENST00000425807.1_Missense_Mutation_p.D249N|COMP_ENST00000542601.2_Missense_Mutation_p.D269N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	302					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGGTCCACATCCTCCTGCCCT	0.652																																																	0													52	50	51					19																	18899092		2203	4300	6503	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.904G>A	19.37:g.18899092C>T	ENSP00000222271:p.Asp302Asn		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D302N	ENST00000222271.2	37	c.904	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.324310	0.95708	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.99919	-8.0;-8.0;-8.0	3.68	3.68	0.42216	.	0.000000	0.85682	U	0.000000	D	0.99928	0.9967	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.978;1.0	D	0.95653	0.8708	10	0.62326	D	0.03	-27.8485	14.0947	0.65013	0.0:1.0:0.0:0.0	.	249;302	B4DKJ3;P49747	.;COMP_HUMAN	N	269;302;249;289	ENSP00000439156:D269N;ENSP00000222271:D302N;ENSP00000403792:D249N	ENSP00000222271:D302N	D	-	1	0	COMP	18760092	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.498000	0.81546	1.909000	0.55274	0.484000	0.47621	GAT	COMP	-	pfam_Thrombospondin_3-like_rpt		0.652	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	C	NM_000095		18899092	-1	no_errors	ENST00000222271	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18899092	C	T	18899092	3	4	55	1	0	0	0	0	1	0	0	0	3729	855	30	1	1413	1	COMP	19	18899092	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	4745737	18899092	40229891	173	7521										
ZNF527	84503	genome.wustl.edu	37	chr19	37879599	37879599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaaagactccatgctgagaaGgaatctttgataggtaatga	10	5	1	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:37879599G>T	ENST00000436120.2	+	5	755	c.648G>T	c.(646-648)aaG>aaT	p.K216N	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGCTGAGAAGGAATCTTTGA	0.343																																																	0													54	54	54					19																	37879599		1812	4068	5880	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.648G>T	19.37:g.37879599G>T	ENSP00000390179:p.Lys216Asn		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K216N	ENST00000436120.2	37	c.648	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033168	0.75504	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	3.16	0.36331	.	0.000000	0.33895	N	0.004442	T	0.41834	0.1176	L	0.36672	1.1	0.80722	D	1	B;P	0.36535	0.281;0.557	B;B	0.36418	0.112;0.224	T	0.43750	-0.9372	9	0.87932	D	0	.	10.7401	0.46147	0.0956:0.0:0.9044:0.0	.	216;184	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	N	216;184;164	.	ENSP00000325231:K184N	K	+	3	2	ZNF527	42571439	0.108000	0.22018	0.034000	0.17996	0.575000	0.36095	0.296000	0.19083	0.980000	0.38523	0.655000	0.94253	AAG	ZNF527	-	NULL		0.343	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	G	NM_032453		37879599	1	no_errors	ENST00000436120	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37879599	G	T	37879599	3	4	55	1	0	0	0	0	1	0	0	0	17998	991	35	4	662	4	ZNF527	19	37879599	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	18980507	37879599	21249384	174	7522										
CYP2S1	29785	genome.wustl.edu	37	chr19	41704766	41704766	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggccccgcacgtgaccttgtCgatgccttcctgctgaagat	11	14	0	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:41704766C>T	ENST00000310054.4	+	5	1023	c.807C>T	c.(805-807)gtC>gtT	p.V269V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	269					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTGACCTTGTCGATGCCTTCC	0.642																																																	0													61	58	59					19																	41704766		2203	4300	6503	SO:0001819	synonymous_variant	29785			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.807C>T	19.37:g.41704766C>T			Q9BZ66	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.V269	ENST00000310054.4	37	c.807	CCDS12573.1	19																																																																																			CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.642	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	C			41704766	1	no_errors	ENST00000310054	ensembl	human	known	70_37	silent	SNP	0.070	T	T	41704766	C	T	41704766	2	4	55	1	0	0	0	0	0	0	0	1	4179	871	31	1		1	CYP2S1	19	41704766	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	3825167	41704766	17424217	175	7523										
PSG2	5670	genome.wustl.edu	37	chr19	43579627	43579627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aagagggtcctgttggtttcGgacagctgaaacctatgagt	13	7	0	3	rs1064919		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:43579627G>A	ENST00000406487.1	-	3	686	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	196	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGTTGGTTTCGGACAGCTGAA	0.493													G|||	1	0.000199681	0	0	5008	,	,		19498	0		0	False		,,,				2504	0.001																0								G		1,4403		0,1,2201	257	262	260		588	0.1	0	19	dbSNP_86	260	1,8595		0,1,4297	no	coding-synonymous	PSG2	NM_031246.3		0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154		196/336	43579627	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.588C>T	19.37:g.43579627G>A			Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S196	ENST00000406487.1	37	c.588	CCDS12616.1	19																																																																																			PSG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	G	NM_031246		43579627	-1	no_errors	ENST00000406487	ensembl	human	known	70_37	silent	SNP	0.009	A	A	43579627	G	A	43579627	2	1	55	1	0	0	0	0	0	0	0	1	12682	1103	39	2		2	PSG2	19	43579627	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	1874861	43579627	15549356	176	7524										
FPR2	2358	genome.wustl.edu	37	chr19	52272399	52272399	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	taccttgccagttttcctctTtttgactacagtaactattc	4	11	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:52272399T>G	ENST00000598776.1	+	2	1260	c.488T>G	c.(487-489)tTt>tGt	p.F163C	FPR2_ENST00000340023.6_Missense_Mutation_p.F163C|FPR2_ENST00000598953.1_Missense_Mutation_p.F163C	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	163					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTTTCCTCTTTTTGACTACA	0.517																																																	0													122	116	118					19																	52272399		2203	4300	6503	SO:0001583	missense	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.488T>G	19.37:g.52272399T>G	ENSP00000468897:p.Phe163Cys		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.F163C	ENST00000598776.1	37	c.488	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	16.70	3.197282	0.58126	.	.	ENSG00000171049	ENST00000340023	T	0.74002	-0.8	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.078699	0.53938	U	0.000053	D	0.88336	0.6409	H	0.94964	3.605	0.44595	D	0.997561	D	0.89917	1.0	D	0.79108	0.992	D	0.90209	0.4263	10	0.87932	D	0	.	10.478	0.44676	0.0:0.0:0.0:1.0	.	163	P25090	FPR2_HUMAN	C	163	ENSP00000340191:F163C	ENSP00000340191:F163C	F	+	2	0	FPR2	56964211	1.000000	0.71417	0.017000	0.16124	0.003000	0.03518	4.106000	0.57804	1.650000	0.50662	0.402000	0.26972	TTT	FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anphylx_rcpt		0.517	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	T	NM_001005738		52272399	1	no_errors	ENST00000340023	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52272399	T	G	52272399	3	3	55	1	0	0	0	0	1	0	0	0	6057	1841	64	5	490	5	FPR2	19	52272399	Missense_Mutation	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	8692772	52272399	6856584	177	7525										
CACNG8	59283	genome.wustl.edu	37	chr19	54466619	54466619	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gcgggggcggcggcgcctcgGagaagaaggaccccggcggc	21	13	0	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:54466619G>C	ENST00000270458.2	+	1	326	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	75					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGCCTCGGAGAAGAAGGA	0.741																																																	0													10	11	11					19																	54466619		2178	4243	6421	SO:0001583	missense	59283			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.223G>C	19.37:g.54466619G>C	ENSP00000270458:p.Glu75Gln		Q9BXT0|Q9BY23	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.E75Q	ENST00000270458.2	37	c.223	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	G	6.707	0.499142	0.12762	.	.	ENSG00000142408	ENST00000270458	T	0.44881	0.91	3.66	3.66	0.41972	.	0.066997	0.56097	U	0.000031	T	0.22360	0.0539	N	0.08118	0	0.22156	N	0.999324	B	0.27380	0.177	B	0.18263	0.021	T	0.29912	-0.9996	9	0.37606	T	0.19	-3.9236	13.2311	0.59945	0.0:0.0:1.0:0.0	.	75	Q8WXS5	CCG8_HUMAN	Q	75	ENSP00000270458:E75Q	ENSP00000270458:E75Q	E	+	1	0	CACNG8	59158431	0.914000	0.31030	0.199000	0.23439	0.501000	0.33797	1.644000	0.37228	1.778000	0.52293	0.297000	0.19635	GAG	CACNG8	-	pfam_PMP22/EMP/MP20/Claudin		0.741	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	HGNC	protein_coding	OTTHUMT00000139361.3	G			54466619	1	no_errors	ENST00000270458	ensembl	human	known	70_37	missense	SNP	0.974	C	C	54466619	G	C	54466619	3	2	55	1	0	0	0	0	1	0	0	0	2568	1175	41	1	225	1	CACNG8	19	54466619	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2194220	54466619	4662364	178	7526										
KIR2DL3	3804	genome.wustl.edu	37	chr19	55263147	55263147	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	attgggacctcagtggtcatCatcctcttcatcctcctcct	6	15	5	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:55263147C>T	ENST00000342376.3	+	6	793	c.762C>T	c.(760-762)atC>atT	p.I254I	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	254					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CAGTGGtcatcatcctcttca	0.483																																																	0													174	146	156					19																	55263147		1426	2575	4001	SO:0001819	synonymous_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.762C>T	19.37:g.55263147C>T			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.I254	ENST00000342376.3	37	c.762	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL		0.483	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	C			55263147	1	no_errors	ENST00000342376	ensembl	human	known	70_37	silent	SNP	0.008	T	T	55263147	C	T	55263147	2	4	55	1	0	0	0	0	0	0	0	1	8337	816	29	1		1	KIR2DL3	19	55263147	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	796528	55263147	3865836	179	7527										
PEG3	5178	genome.wustl.edu	37	chr19	57326753	57326753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttagcatactgctcttgggcGtaacttgtttgagggtcagt	12	7	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:57326753G>A	ENST00000326441.9	-	10	3420	c.3057C>T	c.(3055-3057)taC>taT	p.Y1019Y	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.Y893Y|PEG3_ENST00000598410.1_Silent_p.Y895Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.Y1019Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1019					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCTTGGGCGTAACTTGTTT	0.463																																																	0													76	70	72					19																	57326753		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3057C>T	19.37:g.57326753G>A			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Y1019	ENST00000326441.9	37	c.3057	CCDS12948.1	19																																																																																			PEG3	-	NULL		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	G			57326753	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	silent	SNP	0.005	A	A	57326753	G	A	57326753	2	1	55	1	0	0	0	0	0	0	0	1	11744	1140	40	2		2	PEG3	19	57326753	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2063606	57326753	1802230	180	7528										
TGM3	7053	genome.wustl.edu	37	chr20	2293594	2293594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tcaatcttggataggagtctGaatttccgccgtgacgctgc	11	10	3	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:2293594G>A	ENST00000381458.5	+	5	654	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	197					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ATAGGAGTCTGAATTTCCGCC	0.463																																																	0													180	162	168					20																	2293594		2203	4300	6503	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.591G>A	20.37:g.2293594G>A			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L197	ENST00000381458.5	37	c.591	CCDS33435.1	20																																																																																			TGM3	-	NULL		0.463	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2293594	1	no_errors	ENST00000381458	ensembl	human	known	70_37	silent	SNP	0.999	A	A	2293594	G	A	2293594	2	1	55	1	0	0	0	0	0	0	0	1	15861	1277	45	1		1	TGM3	20	2293594	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		2293594	60731926	181	7529										
CSRP2BP	57325	genome.wustl.edu	37	chr20	18143136	18143136	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gtcagaaagaaggtcagaggCcctgaacagataaagcagga	13	7	2	5			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:18143136C>G	ENST00000435364.3	+	6	1559	c.1218C>G	c.(1216-1218)ggC>ggG	p.G406G	CSRP2BP_ENST00000489634.2_Silent_p.G278G|CSRP2BP_ENST00000377681.3_Silent_p.G405G	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	406					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGGTCAGAGGCCCTGAACAGA	0.512																																																	0													64	67	66					20																	18143136		2203	4300	6503	SO:0001819	synonymous_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1218C>G	20.37:g.18143136C>G			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.G406	ENST00000435364.3	37	c.1218	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL		0.512	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	C	NM_020536		18143136	1	no_errors	ENST00000278816	ensembl	human	known	70_37	silent	SNP	0.000	G	G	18143136	C	G	18143136	2	3	55	1	0	0	0	0	0	0	0	1	3973	726	26	4		4	CSRP2BP	20	18143136	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	15849542	18143136	44882384	182	7530										
NCOA6	23054	genome.wustl.edu	37	chr20	33342596	33342596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	caggggtggttgctgtggtcGaaggcacctgaccttgcata	15	9	0	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:33342596G>A	ENST00000374796.2	-	9	4174	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S535L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	535	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTGTGGTCGAAGGCACCTG	0.498																																																	0													118	109	112					20																	33342596		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1604C>T	20.37:g.33342596G>A	ENSP00000363929:p.Ser535Leu		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.S535L	ENST00000374796.2	37	c.1604	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303058	0.81136	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26373	1.74;1.74	5.97	5.97	0.96955	.	0.089845	0.48767	D	0.000167	T	0.18130	0.0435	N	0.24115	0.695	0.38222	D	0.94078	D	0.58970	0.984	B	0.33960	0.173	T	0.06625	-1.0816	10	0.56958	D	0.05	-5.2121	20.4135	0.99023	0.0:0.0:1.0:0.0	.	535	Q14686	NCOA6_HUMAN	L	535	ENSP00000363929:S535L;ENSP00000351894:S535L	ENSP00000351894:S535L	S	-	2	0	NCOA6	32806257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.094000	0.57721	2.835000	0.97688	0.591000	0.81541	TCG	NCOA6	-	NULL		0.498	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	G	NM_014071		33342596	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	0.998	A	A	33342596	G	A	33342596	3	1	55	1	0	0	0	0	1	0	0	0	10257	1059	37	1	4619	1	NCOA6	20	33342596	Missense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	15199460	33342596	29682924	183	7531										
MMP24	10893	genome.wustl.edu	37	chr20	33862108	33862108	+	Frame_Shift_Del	DEL	G	G	-													0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ctacaagggccgggactactGgaagtttgacaaccagaaac							TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:33862108delG	ENST00000246186.6	+	9	1719	c.1634delG	c.(1633-1635)tggfs	p.W545fs	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	545					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CGGGACTACTGGAAGTTTGAC	0.572																																																	0													93	108	103					20																	33862108		2055	4211	6266	SO:0001589	frameshift_variant	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1634delG	20.37:g.33862108delG	ENSP00000246186:p.Trp545fs		B7ZBG8|Q9H440	Frame_Shift_Del	DEL	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.W545fs	ENST00000246186.6	37	c.1634	CCDS46593.1	20																																																																																			MMP24	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.572	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	G	NM_006690		33862108	1	no_errors	ENST00000246186	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	33862108	G	-	33862108	7	5	55	1	0	1	0	1	0	0	0	0	9684	1357	47	0	1418	0	MMP24	20	33862108	Frame_Shift_Del	DEL	G	TCGA-DG-A2KL-01A-11D-A17W-09	519512	33862108	29163412	184	7532										
EPB41L1	2036	genome.wustl.edu	37	chr20	34778276	34778276	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agactgtggaaggtctgcatCgagcatcatacattcttccg	10	10	3	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:34778276C>T	ENST00000338074.2	+	10	1265	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	EPB41L1_ENST00000373950.2_Silent_p.I271I|EPB41L1_ENST00000373946.3_Silent_p.I337I|EPB41L1_ENST00000202028.5_Silent_p.I306I|EPB41L1_ENST00000373941.1_Silent_p.I368I|EPB41L1_ENST00000441639.1_Silent_p.I306I	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	368	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGTCTGCATCGAGCATCATA	0.527																																																	0													79	67	71					20																	34778276		2203	4300	6503	SO:0001819	synonymous_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1104C>T	20.37:g.34778276C>T			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.I368	ENST00000338074.2	37	c.1104	CCDS13271.1	20																																																																																			EPB41L1	-	pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain		0.527	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	C	NM_012156		34778276	1	no_errors	ENST00000338074	ensembl	human	known	70_37	silent	SNP	0.133	T	T	34778276	C	T	34778276	2	4	55	1	0	0	0	0	0	0	0	1	5164	874	31	1		1	EPB41L1	20	34778276	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	916168	34778276	28247244	185	7533										
C20orf132	140699	genome.wustl.edu	37	chr20	35752160	35752160	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gagtcggaacgtagctgctcGaagcctgtttcccaaaaaca	10	11	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:35752160G>A	ENST00000400441.3	-	15	1827	c.1828C>T	c.(1828-1830)Cga>Tga	p.R610*	MROH8_ENST00000441008.2_Nonsense_Mutation_p.R596*|MROH8_ENST00000217333.8_Nonsense_Mutation_p.R439*			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GTAGCTGCTCGAAGCCTGTTT	0.483																																																	0													87	86	86					20																	35752160		2017	4179	6196	SO:0001587	stop_gained	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1828C>T	20.37:g.35752160G>A	ENSP00000383291:p.Arg610*		Q5JYQ6	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.R610*	ENST00000400441.3	37	c.1828		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.712447|3.712447	0.68730|0.68730	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	.|.	.|.	.|.	5.4|5.4	3.37|3.37	0.38596|0.38596	.|.	0.575818|.	0.15897|.	N|.	0.239251|.	.|T	.|0.53417	.|0.1795	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61178	.|-0.7115	.|3	0.09590|.	T|.	0.72|.	-7.5797|-7.5797	10.7558|10.7558	0.46237|0.46237	0.0:0.0:0.6548:0.3452|0.0:0.0:0.6548:0.3452	.|.	.|.	.|.	.|.	X|L	596;610;439|237	.|.	ENSP00000217333:R439X|.	R|S	-|-	1|2	2|0	C20orf132|C20orf132	35185574|35185574	0.045000|0.045000	0.20229|0.20229	0.309000|0.309000	0.25155|0.25155	0.067000|0.067000	0.16453|0.16453	2.106000|2.106000	0.41835|0.41835	0.590000|0.590000	0.29694|0.29694	0.491000|0.491000	0.48974|0.48974	CGA|TCG	C20orf132	-	superfamily_ARM-type_fold		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		G	NM_152503		35752160	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	nonsense	SNP	0.081	A	A	35752160	G	A	35752160	4	1	55	1	0	0	0	0	0	1	0	0	2091	1066	37	1	1340	1	C20orf132	20	35752160	Nonsense_Mutation	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	973884	35752160	27273360	186	7534										
KIAA1755	85449	genome.wustl.edu	37	chr20	36846737	36846737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gggtcagtgattgcaggcacCgccttccttcctgctccatc	10	15	1	1	rs139310550		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:36846737C>T	ENST00000279024.4	-	12	2859	c.2588G>A	c.(2587-2589)cGg>cAg	p.R863Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	863										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGCAGGCACCGCCTTCCTTC	0.582																																																	0								C	GLN/ARG	0,4406		0,0,2203	73	64	67		2588	-2.5	0.8	20	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1755	NM_001029864.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	863/1201	36846737	1,13005	2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2588G>A	20.37:g.36846737C>T	ENSP00000279024:p.Arg863Gln		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.R863Q	ENST00000279024.4	37	c.2588	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386424	0.04966	0.0	1.16E-4	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.34072	3.52;1.38	4.91	-2.45	0.06481	.	1.215000	0.06258	N	0.693348	T	0.19327	0.0464	L	0.29908	0.895	0.09310	N	1	B;B	0.29037	0.231;0.043	B;B	0.15484	0.013;0.008	T	0.19224	-1.0312	10	0.09843	T	0.71	.	6.3098	0.21159	0.0:0.337:0.1437:0.5193	.	863;371	Q5JYT7;E9PFS1	K1755_HUMAN;.	Q	863;371;162	ENSP00000279024:R863Q;ENSP00000393503:R162Q	ENSP00000279024:R863Q	R	-	2	0	KIAA1755	36280151	0.000000	0.05858	0.762000	0.31397	0.010000	0.07245	-1.283000	0.02796	-0.219000	0.10003	-0.258000	0.10820	CGG	KIAA1755	-	NULL		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36846737	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	missense	SNP	0.008	T	T	36846737	C	T	36846737	3	4	55	1	0	0	0	0	1	0	0	0	8277	652	23	2	1026	2	KIAA1755	20	36846737	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	1094577	36846737	26178783	187	7535										
LSM14B	149986	genome.wustl.edu	37	chr20	60697842	60697842	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	gacaactccaccgtggcgctCgccaaaggtagcggccgccg	13	16	0	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:60697842C>T	ENST00000279068.6	+	1	280	c.120C>T	c.(118-120)ctC>ctT	p.L40L	LSM14B_ENST00000253001.4_Silent_p.L40L|LSM14B_ENST00000370915.1_Silent_p.L40L	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	40					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGTGGCGCTCGCCAAAGGTA	0.716																																																	0													47	49	48					20																	60697842		2203	4299	6502	SO:0001819	synonymous_variant	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.120C>T	20.37:g.60697842C>T			Q6PFW8|Q96LH8	Silent	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.L40	ENST00000279068.6	37	c.120	CCDS46626.1	20																																																																																			LSM14B	-	superfamily_LSM_dom		0.716	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	C	NM_144703		60697842	1	no_errors	ENST00000253001	ensembl	human	known	70_37	silent	SNP	0.998	T	T	60697842	C	T	60697842	2	4	55	1	0	0	0	0	0	0	0	1	9078	871	31	1		1	LSM14B	20	60697842	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	23851105	60697842	2327678	188	7536										
MAPK1	5594	genome.wustl.edu	37	chr22	22127167	22127167	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aacatgagctcttacctcgtCactcgggtcgtaatactgct	8	12	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr22:22127167C>T	ENST00000215832.6	-	7	1149	c.961G>A	c.(961-963)Gac>Aac	p.D321N	MAPK1_ENST00000398822.3_Missense_Mutation_p.D321N|MAPK1_ENST00000544786.1_Missense_Mutation_p.D277N	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	321					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D321N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CTTACCTCGTCACTCGGGTCG	0.478																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											168	134	146					22																	22127167		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.961G>A	22.37:g.22127167C>T	ENSP00000215832:p.Asp321Asn		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.D321N	ENST00000215832.6	37	c.961	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.464153	0.96257	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.44881	0.91;0.91;0.91	5.06	5.06	0.68205	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.982;0.985	T	0.82392	-0.0480	10	0.87932	D	0	2.7449	18.977	0.92742	0.0:1.0:0.0:0.0	.	277;321	A8CZ64;P28482	.;MK01_HUMAN	N	321;309;321;277	ENSP00000215832:D321N;ENSP00000381803:D321N;ENSP00000440842:D277N	ENSP00000215832:D321N	D	-	1	0	MAPK1	20457167	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.564000	0.82326	2.782000	0.95742	0.655000	0.94253	GAC	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127167	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127167	C	T	22127167	3	4	55	1	0	0	0	0	1	0	0	0	9294	826	29	1	129	1	MAPK1	22	22127167	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09		22127167	29177399	189	7537										
SMARCB1	6598	genome.wustl.edu	37	chr22	24143248	24143248	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaccgcatgggccgagacaaGaagagaaccttccccctttg	10	13	0	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr22:24143248G>A	ENST00000263121.7	+	4	676	c.480G>A	c.(478-480)aaG>aaA	p.K160K	SMARCB1_ENST00000407082.3_Intron|SMARCB1_ENST00000407422.3_Silent_p.K151K|SMARCB1_ENST00000344921.6_Silent_p.K151K	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	160	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(5)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCCGAGACAAGAAGAGAACCT	0.582			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	5	Deletion - Frameshift(3)|Unknown(2)	soft_tissue(5)											216	134	162					22																	24143248		2203	4300	6503	SO:0001819	synonymous_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.480G>A	22.37:g.24143248G>A			O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.K160	ENST00000263121.7	37	c.480	CCDS13817.1	22																																																																																			SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx		0.582	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	G	NM_003073		24143248	1	no_errors	ENST00000263121	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24143248	G	A	24143248	2	1	55	1	0	0	0	0	0	0	0	1	14804	933	33	1		1	SMARCB1	22	24143248	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	2016081	24143248	27161318	190	7538										
PIM3	415116	genome.wustl.edu	37	chr22	50355296	50355296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ccgctggcgcgccgcttcttCgcgcaggtgctggccgccgt	15	17	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr22:50355296C>T	ENST00000360612.4	+	4	888	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCTTCTTCGCGCAGGTGC	0.692																																																	0													9	9	9					22																	50355296		2160	4248	6408	SO:0001819	synonymous_variant	415116			BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.453C>T	22.37:g.50355296C>T			A5D8X8|A8K7J0|B1B0P0|Q68BM2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F151	ENST00000360612.4	37	c.453	CCDS33678.1	22																																																																																			PIM3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.692	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM3	HGNC	protein_coding	OTTHUMT00000317406.1	C	NM_001001852		50355296	1	no_errors	ENST00000360612	ensembl	human	known	70_37	silent	SNP	0.971	T	T	50355296	C	T	50355296	2	4	55	1	0	0	0	0	0	0	0	1	11953	883	31	1		1	PIM3	22	50355296	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	26212048	50355296	949270	191	7539										
FANCB	2187	genome.wustl.edu	37	chrX	14862067	14862067	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tttatagggagaattctgatGagattatgaaggcactggaa	12	3	1	4			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:14862067G>C	ENST00000324138.3	-	9	2355	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L	FANCB_ENST00000398334.1_Silent_p.L734L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	734					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAATTCTGATGAGATTATGAA	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													57	61	60					X																	14862067		2197	4296	6493	SO:0001819	synonymous_variant	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2202C>G	X.37:g.14862067G>C			B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	NULL	p.L734	ENST00000324138.3	37	c.2202	CCDS14161.1	X																																																																																			FANCB	-	NULL		0.308	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	G	NM_152633		14862067	-1	no_errors	ENST00000324138	ensembl	human	known	70_37	silent	SNP	0.489	C	C	14862067	G	C	14862067	2	2	55	1	0	0	0	0	0	0	0	1	5681	1277	45	1		1	FANCB	23	14862067	Silent	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09		14862067	140408493	192	7540										
MAGEB1	4112	genome.wustl.edu	37	chrX	30269126	30269126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	aaggaagacaaccctagtggCcacacctacaccctcgtcag	8	15	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:30269126C>T	ENST00000378981.3	+	4	837	c.516C>T	c.(514-516)ggC>ggT	p.G172G	MAGEB1_ENST00000397550.1_Silent_p.G172G|MAGEB1_ENST00000397548.2_Silent_p.G172G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	172	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.			G -> S (in Ref. 1; CAA57889). {ECO:0000305}.						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACCCTAGTGGCCACACCTACA	0.502																																																	0													81	61	68					X																	30269126		2202	4300	6502	SO:0001819	synonymous_variant	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.516C>T	X.37:g.30269126C>T			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G172	ENST00000378981.3	37	c.516	CCDS14222.1	X																																																																																			MAGEB1	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	C	NM_002363		30269126	1	no_errors	ENST00000378981	ensembl	human	known	70_37	silent	SNP	0.000	T	T	30269126	C	T	30269126	2	4	55	1	0	0	0	0	0	0	0	1	9195	726	26	4		4	MAGEB1	23	30269126	Silent	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	15407059	30269126	125001434	193	7541										
CXCR3	2833	genome.wustl.edu	37	chrX	70837348	70837348	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ggaggaaggggctgtgtaaaGgcctggcaggaactcttttg	17	6	1	0			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:70837348G>C	ENST00000373693.3	-	2	80				CXCR3_ENST00000373691.4_Missense_Mutation_p.L39V	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GCTGTGTAAAGGCCTGGCAGG	0.557																																																	0													29	31	31					X																	70837348		2119	4187	6306	SO:0001627	intron_variant	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.13-39C>G	X.37:g.70837348G>C			B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.L39V	ENST00000373693.3	37	c.115	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841198	0.16891	.	.	ENSG00000186810	ENST00000373691	T	0.70631	-0.5	4.48	0.635	0.17723	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42361	-0.9456	8	0.45353	T	0.12	.	4.1069	0.10040	0.408:0.1699:0.4221:0.0	.	39	P49682-2	.	V	39	ENSP00000362795:L39V	ENSP00000362795:L39V	L	-	1	0	CXCR3	70754073	0.280000	0.24249	0.000000	0.03702	0.029000	0.11900	1.170000	0.31883	-0.118000	0.11851	-0.192000	0.12808	CTT	CXCR3	-	NULL		0.557	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1	G			70837348	-1	no_errors	ENST00000373691	ensembl	human	known	70_37	missense	SNP	0.000	C	C	70837348	G	C	70837348	1	2	55	0	1	0	0	0	0	0	0	0	4097	1000	35	4		4	CXCR3	23	70837348	Intron	SNP	G	TCGA-DG-A2KL-01A-11D-A17W-09	40568222	70837348	84433212	194	7542										
KIAA2022	340533	genome.wustl.edu	37	chrX	73960742	73960742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	ttgtggacttagggacctggCgggagtttttgccaggtggt	17	6	0	0	rs143271748		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:73960742C>T	ENST00000055682.6	-	3	4261	c.3650G>A	c.(3649-3651)cGc>cAc	p.R1217H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1217					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGGGACCTGGCGGGAGTTTTT	0.473																																																	0								C	HIS/ARG	1,3834		0,1,1631,571	90	81	84		3650	4.2	1	X	dbSNP_134	84	0,6728		0,0,2428,1872	no	missense	KIAA2022	NM_001008537.2	29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	1217/1517	73960742	1,10562	2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3650G>A	X.37:g.73960742C>T	ENSP00000055682:p.Arg1217His		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.R1217H	ENST00000055682.6	37	c.3650	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458366	0.43634	2.61E-4	0.0	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29397	1.57;1.57	5.11	4.25	0.50352	.	0.235442	0.43416	N	0.000565	T	0.24275	0.0588	L	0.34521	1.04	0.58432	D	0.999999	B	0.30211	0.273	B	0.26094	0.066	T	0.06356	-1.0831	10	0.87932	D	0	-2.3472	12.8531	0.57869	0.0:0.9198:0.0:0.0801	.	1217	Q5QGS0	K2022_HUMAN	H	1217	ENSP00000362567:R1217H;ENSP00000055682:R1217H	ENSP00000055682:R1217H	R	-	2	0	KIAA2022	73877467	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.552000	0.53705	1.141000	0.42275	-0.192000	0.12808	CGC	KIAA2022	-	NULL		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73960742	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73960742	C	T	73960742	3	4	55	1	0	0	0	0	1	0	0	0	8289	768	27	2	908	2	KIAA2022	23	73960742	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	3123394	73960742	81309818	195	7543										
ATRX	546	genome.wustl.edu	37	chrX	76939255	76939255	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	catattgaggttcttcttttCtatcagatttcttatgttca	5	7	6	2			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:76939255C>G	ENST00000373344.5	-	9	1707	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R460T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	498					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCTTTTCTATCAGATTT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											185	188	187					X																	76939255		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1493G>C	X.37:g.76939255C>G	ENSP00000362441:p.Arg498Thr		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R498T	ENST00000373344.5	37	c.1493	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	2.396	-0.338643	0.05243	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91792	-2.91;-2.91	5.02	2.94	0.34122	.	0.860537	0.10092	N	0.717119	D	0.82628	0.5078	N	0.17474	0.49	0.80722	D	1	B;B;B;B	0.17268	0.006;0.003;0.021;0.006	B;B;B;B	0.21151	0.014;0.005;0.033;0.014	T	0.72184	-0.4367	10	0.23302	T	0.38	-3.9242	3.7211	0.08456	0.0:0.2434:0.3715:0.3851	.	498;459;460;498	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	T	498;460;454	ENSP00000362441:R498T;ENSP00000378967:R460T	ENSP00000362441:R498T	R	-	2	0	ATRX	76825911	0.997000	0.39634	1.000000	0.80357	0.963000	0.63663	0.403000	0.20982	0.773000	0.33404	0.496000	0.49642	AGA	ATRX	-	NULL		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76939255	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.953	G	G	76939255	C	G	76939255	3	3	55	1	0	0	0	0	1	0	0	0	1209	913	32	1	6093	1	ATRX	23	76939255	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	2978513	76939255	78331305	196	7544										
AMOT	154796	genome.wustl.edu	37	chrX	112058973	112058973	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tggtttgggaccaaggggtgTcgggcaggagacaatctagt	17	6	1	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:112058973T>A	ENST00000524145.1	-	3	1079	c.1005A>T	c.(1003-1005)cgA>cgT	p.R335R	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.R335R|AMOT_ENST00000371962.1_Silent_p.R103R|AMOT_ENST00000371958.1_Silent_p.R103R			Q4VCS5	AMOT_HUMAN	angiomotin	335					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCAAGGGGTGTCGGGCAGGAG	0.577																																																	0													71	65	67					X																	112058973		692	1591	2283	SO:0001819	synonymous_variant	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1005A>T	X.37:g.112058973T>A			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.R335	ENST00000524145.1	37	c.1005	CCDS48154.1	X																																																																																			AMOT	-	NULL		0.577	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	T	NM_133265		112058973	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	silent	SNP	0.970	A	A	112058973	T	A	112058973	2	1	55	1	0	0	0	0	0	0	0	1	582	1654	58	5		5	AMOT	23	112058973	Silent	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	35119718	112058973	43211587	197	7545										
SLC6A14	11254	genome.wustl.edu	37	chrX	115574018	115574018	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	tgtagcagatcaccaataggTaaaatttgtcaacacccaaa	6	9	2	1			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:115574018T>A	ENST00000371900.4	+	4	596		c.e4+2			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CACCAATAGGTAAAATTTGTC	0.308																																																	0													64	60	61					X																	115574018		2203	4299	6502	SO:0001630	splice_region_variant	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.508+2T>A	X.37:g.115574018T>A			Q5H942	Splice_Site	SNP	-	e4+2	ENST00000371900.4	37	c.508+2	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235836	0.58886	.	.	ENSG00000087916	ENST00000371900	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0884	0.48102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A14	115488046	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.131000	0.77243	1.819000	0.53055	0.486000	0.48141	.	SLC6A14	-	-		0.308	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	T		Intron	115574018	1	no_errors	ENST00000371900	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	115574018	T	A	115574018	5	1	55	1	0	0	0	0	0	0	1	0	14707	1652	57	5	524	5	SLC6A14	23	115574018	Splice_Site	SNP	T	TCGA-DG-A2KL-01A-11D-A17W-09	3515045	115574018	39696542	198	7546										
PASD1	139135	genome.wustl.edu	37	chrX	150793972	150793972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.434343434343434	86	2.458036819466e-28	3.67957471311644	5.42813961627796	2.84467435394923	0.654528320663703	0.837622822020736	63	agctgtacttacacaagattCagatgaggaaccttttgtgg	10	7	1	3			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:150793972C>T	ENST00000370357.4	+	8	844	c.599C>T	c.(598-600)tCa>tTa	p.S200L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	200						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACACAAGATTCAGATGAGGAA	0.323																																																	0													180	178	178					X																	150793972		2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.599C>T	X.37:g.150793972C>T	ENSP00000359382:p.Ser200Leu		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.S200L	ENST00000370357.4	37	c.599	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751119	0.31046	.	.	ENSG00000166049	ENST00000370357	T	0.70045	-0.45	4.44	0.876	0.19138	.	.	.	.	.	T	0.52175	0.1718	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.31686	0.134	T	0.45220	-0.9276	9	0.72032	D	0.01	-34.661	6.3013	0.21115	0.0:0.562:0.0:0.438	.	200	Q8IV76	PASD1_HUMAN	L	200	ENSP00000359382:S200L	ENSP00000359382:S200L	S	+	2	0	PASD1	150544628	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.129000	0.15830	0.077000	0.16863	0.509000	0.49947	TCA	PASD1	-	NULL		0.323	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	C	NM_173493		150793972	1	no_errors	ENST00000370357	ensembl	human	known	70_37	missense	SNP	0.000	T	T	150793972	C	T	150793972	3	4	55	1	0	0	0	0	1	0	0	0	11495	838	29	1	625	1	PASD1	23	150793972	Missense_Mutation	SNP	C	TCGA-DG-A2KL-01A-11D-A17W-09	35219954	150793972	4476588	199	7547										
AGRN	375790	genome.wustl.edu	37	chr1	983046	983046	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gcaaatccgtccgcgccattGtggatgtgcactttgacccc	10	14	0	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:983046G>C	ENST00000379370.2	+	21	3660	c.3610G>C	c.(3610-3612)Gtg>Ctg	p.V1204L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1204	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCGCCATTGTGGATGTGCA	0.622																																																	0													48	52	51					1																	983046		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3610G>C	1.37:g.983046G>C	ENSP00000368678:p.Val1204Leu		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.V1204L	ENST00000379370.2	37	c.3610	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532152	0.45073	.	.	ENSG00000188157	ENST00000379370	T	0.38401	1.14	3.86	3.86	0.44501	SEA (3);	0.000000	0.56097	U	0.000033	T	0.35770	0.0943	L	0.29908	0.895	0.48830	D	0.999715	P	0.46395	0.877	P	0.51615	0.675	T	0.03969	-1.0988	10	0.30854	T	0.27	-21.7476	12.0411	0.53454	0.0883:0.0:0.9117:0.0	.	1204	O00468	AGRIN_HUMAN	L	1204	ENSP00000368678:V1204L	ENSP00000368678:V1204L	V	+	1	0	AGRN	972909	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	3.150000	0.50662	2.183000	0.69458	0.550000	0.68814	GTG	AGRN	-	pfam_SEA,smart_SEA,pfscan_SEA		0.622	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	G	NM_198576		983046	1	no_errors	ENST00000379370	ensembl	human	known	70_37	missense	SNP	1.000	C	C	983046	G	C	983046	3	2	56	1	0	0	0	0	1	0	0	0	397	1377	48	4	3692	4	AGRN	1	983046	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		983046	248267575	1	7548										
KIAA1751	85452	genome.wustl.edu	37	chr1	1920084	1920084	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atcagcatcagtatctagttCtttcactgagcttaggatga	8	8	5	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:1920084C>G	ENST00000434971.2	-	4	195	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q				Q69YW0	CA222_HUMAN		281										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTATCTAGTTCTTTCACTGAG	0.527																																																	0													87	89	89					1																	1920084		1998	4180	6178	SO:0001583	missense	85452																														ENST00000434971.2:c.163G>C	1.37:g.1920084C>G	ENSP00000408078:p.Glu55Gln			Missense_Mutation	SNP	NULL	p.E55Q	ENST00000434971.2	37	c.163		1	.	.	.	.	.	.	.	.	.	.	c	8.811	0.935257	0.18206	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.49720	0.77;0.78	3.69	-0.998	0.10212	.	.	.	.	.	T	0.26376	0.0644	L	0.31294	0.92	0.09310	N	1	B;B	0.33318	0.408;0.408	B;B	0.25987	0.065;0.065	T	0.11567	-1.0582	8	.	.	.	-6.573	3.914	0.09214	0.0:0.4444:0.1813:0.3743	.	55;55	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	Q	55;46;55	ENSP00000367853:E46Q;ENSP00000408078:E55Q	.	E	-	1	0	C1orf222	1909944	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.350000	0.07721	-0.318000	0.08665	-0.533000	0.04299	GAA	C1orf222	-	NULL		0.527	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		C			1920084	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.001	G	G	1920084	C	G	1920084	3	3	56	1	0	0	0	0	1	0	0	0	8276	922	32	1	2185	1	KIAA1751	1	1920084	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	937038	1920084	247330537	2	7549										
C1orf174	339448	genome.wustl.edu	37	chr1	3807432	3807432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ctgcacagaaacgccagcctCgctgcctggaagcaaggcac	11	15	0	1	rs140673232		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:3807432C>T	ENST00000361605.3	-	3	417	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	107						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		ACGCCAGCCTCGCTGCCTGGA	0.542																																																	0								C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	58	56	57		319	3.7	0	1	dbSNP_134	57	0,8600		0,0,4300	yes	missense	C1orf174	NM_207356.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	107/244	3807432	2,13004	2203	4300	6503	SO:0001583	missense	339448			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.319G>A	1.37:g.3807432C>T	ENSP00000355306:p.Glu107Lys		A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	NULL	p.E107K	ENST00000361605.3	37	c.319	CCDS53.1	1	.	.	.	.	.	.	.	.	.	.	C	12.64	2.000097	0.35320	4.54E-4	0.0	ENSG00000198912	ENST00000361605	T	0.06218	3.33	5.56	3.7	0.42460	.	1.047540	0.07462	N	0.900877	T	0.07593	0.0191	L	0.50333	1.59	0.09310	N	1	B	0.27498	0.18	B	0.15484	0.013	T	0.41662	-0.9496	10	0.25751	T	0.34	-7.9702	8.9415	0.35733	0.0:0.8291:0.0:0.1709	.	107	Q8IYL3	CA174_HUMAN	K	107	ENSP00000355306:E107K	ENSP00000355306:E107K	E	-	1	0	C1orf174	3797292	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.050000	0.11904	0.710000	0.31997	0.563000	0.77884	GAG	C1orf174	-	NULL		0.542	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf174	HGNC	protein_coding	OTTHUMT00000010539.1	C	NM_207356		3807432	-1	no_errors	ENST00000361605	ensembl	human	known	70_37	missense	SNP	0.003	T	T	3807432	C	T	3807432	3	4	56	1	0	0	0	0	1	0	0	0	2020	893	31	1	420	1	C1orf174	1	3807432	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1887348	3807432	245443189	3	7550										
SLC25A33	84275	genome.wustl.edu	37	chr1	9630370	9630370	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gagcaatttaatggcattttCgtgcctaacagcaatattgt	8	7	0	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:9630370C>T	ENST00000302692.6	+	4	579	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	123					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCATTTTCGTGCCTAACA	0.398																																																	0													170	155	160					1																	9630370		2203	4298	6501	SO:0001819	synonymous_variant	84275			AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.369C>T	1.37:g.9630370C>T				Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.F123	ENST00000302692.6	37	c.369	CCDS103.1	1																																																																																			SLC25A33	-	superfamily_Mt_carrier_dom		0.398	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A33	HGNC	protein_coding	OTTHUMT00000003851.2	C	NM_032315		9630370	1	no_errors	ENST00000302692	ensembl	human	known	70_37	silent	SNP	0.992	T	T	9630370	C	T	9630370	2	4	56	1	0	0	0	0	0	0	0	1	14527	883	31	1		1	SLC25A33	1	9630370	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	5822938	9630370	239620251	4	7551										
MTOR	2475	genome.wustl.edu	37	chr1	11217277	11217277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gggtcgtccttgttggtgtcCattttcttgtcataggccac	11	10	2	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:11217277C>A	ENST00000361445.4	-	30	4477	c.4401G>T	c.(4399-4401)atG>atT	p.M1467I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1467	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTTGGTGTCCATTTTCTTGT	0.547																																																	0													186	156	166					1																	11217277		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4401G>T	1.37:g.11217277C>A	ENSP00000354558:p.Met1467Ile		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M1467I	ENST00000361445.4	37	c.4401	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469366	0.26423	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.06371	3.31	5.69	3.78	0.43462	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.149713	0.64402	D	0.000011	T	0.03053	0.0090	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49273	-0.8957	10	0.24483	T	0.36	.	6.3554	0.21398	0.1372:0.6606:0.1322:0.07	.	1467	P42345	MTOR_HUMAN	I	1467	ENSP00000354558:M1467I	ENSP00000354558:M1467I	M	-	3	0	MTOR	11139864	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.115000	0.31209	0.721000	0.32231	0.655000	0.94253	ATG	MTOR	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.547	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11217277	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11217277	C	A	11217277	3	1	56	1	0	0	0	0	1	0	0	0	9977	594	21	4	3364	4	MTOR	1	11217277	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1586907	11217277	238033344	5	7552										
EIF2C4	192670	genome.wustl.edu	37	chr1	36307229	36307229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tcttctaggtagcttggccaGaactaatagcaattcgaaag	9	8	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:36307229G>C	ENST00000373210.3	+	15	2298	c.2053G>C	c.(2053-2055)Gaa>Caa	p.E685Q		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	685	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AGCTTGGCCAGAACTAATAGC	0.393																																																	0													96	96	96					1																	36307229		2203	4300	6503	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2053G>C	1.37:g.36307229G>C	ENSP00000362306:p.Glu685Gln		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.E685Q	ENST00000373210.3	37	c.2053	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900924	0.92035	.	.	ENSG00000134698	ENST00000373210	T	0.57907	0.37	5.87	5.87	0.94306	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92120	0.5703	10	0.87932	D	0	-22.236	20.2181	0.98305	0.0:0.0:1.0:0.0	.	685	Q9HCK5	AGO4_HUMAN	Q	685	ENSP00000362306:E685Q	ENSP00000362306:E685Q	E	+	1	0	EIF2C4	36079816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.737000	0.98831	2.785000	0.95823	0.655000	0.94253	GAA	EIF2C4	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.393	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	G	NM_017629		36307229	1	no_errors	ENST00000373210	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36307229	G	C	36307229	3	2	56	1	0	0	0	0	1	0	0	0	5018	943	33	1	2111	1	EIF2C4	1	36307229	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	25089952	36307229	212943392	6	7553										
C1orf173	127254	genome.wustl.edu	37	chr1	75055435	75055435	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aacatgtttcccggacttctCagataaaccctctgcaatct	5	13	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:75055435C>G	ENST00000326665.5	-	12	2274	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	C1orf173_ENST00000420661.2_Missense_Mutation_p.E489Q|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		686	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCGGACTTCTCAGATAAACCC	0.443																																																	0													164	163	163					1																	75055435		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.2056G>C	1.37:g.75055435C>G	ENSP00000322609:p.Glu686Gln		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E686Q	ENST00000326665.5	37	c.2056	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625937	0.28889	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18810	2.6;2.19	3.97	1.56	0.23342	.	.	.	.	.	T	0.06917	0.0176	L	0.39898	1.24	0.09310	N	1	B;P	0.39480	0.13;0.675	B;B	0.40444	0.149;0.329	T	0.23726	-1.0180	9	0.49607	T	0.09	-1.3933	5.2854	0.15698	0.0:0.6632:0.0:0.3368	.	489;686	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	Q	686;489	ENSP00000322609:E686Q;ENSP00000398581:E489Q	ENSP00000322609:E686Q	E	-	1	0	C1orf173	74828023	0.000000	0.05858	0.003000	0.11579	0.151000	0.21798	0.488000	0.22371	0.385000	0.24970	0.579000	0.79373	GAG	C1orf173	-	NULL		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75055435	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.003	G	G	75055435	C	G	75055435	3	3	56	1	0	0	0	0	1	0	0	0	2019	835	29	1	2548	1	C1orf173	1	75055435	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	38748206	75055435	174195186	7	7554										
TMED5	50999	genome.wustl.edu	37	chr1	93620280	93620280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	actcttcagcatataaacttGaatggctgacaccaccacca	5	13	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:93620280G>C	ENST00000370282.3	-	4	1122	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	TMED5_ENST00000479918.1_3'UTR|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	213					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		ATATAAACTTGAATGGCTGAC	0.353																																																	0													147	134	138					1																	93620280		2203	4300	6503	SO:0001583	missense	50999			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.637C>G	1.37:g.93620280G>C	ENSP00000359305:p.Gln213Glu		B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.Q213E	ENST00000370282.3	37	c.637	CCDS743.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.304075	0.95601	.	.	ENSG00000117500	ENST00000370282;ENST00000535517	T	0.31247	1.5	6.02	6.02	0.97574	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75918	-0.3148	10	0.87932	D	0	-16.1467	20.5407	0.99260	0.0:0.0:1.0:0.0	.	213	Q9Y3A6	TMED5_HUMAN	E	213;162	ENSP00000359305:Q213E	ENSP00000359305:Q213E	Q	-	1	0	TMED5	93392868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.672000	0.98629	2.865000	0.98341	0.655000	0.94253	CAA	TMED5	-	pfam_GOLD		0.353	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED5	HGNC	protein_coding	OTTHUMT00000028076.3	G	NM_016040		93620280	-1	no_errors	ENST00000370282	ensembl	human	known	70_37	missense	SNP	1.000	C	C	93620280	G	C	93620280	3	2	56	1	0	0	0	0	1	0	0	0	16037	1299	45	1	56	1	TMED5	1	93620280	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	18564845	93620280	155630341	8	7555										
SLC6A17	388662	genome.wustl.edu	37	chr1	110734776	110734776	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	acgtcagtgttggccaccctCgtggtgtttgctgtgctggg	15	10	1	0	rs151171218		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:110734776C>T	ENST00000331565.4	+	7	1532	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	349					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGGCCACCCTCGTGGTGTTTG	0.532													c|||	1	0.000199681	8e-04	0	5008	,	,		22228	0		0	False		,,,				2504	0																0								T		4,4402	8.1+/-20.4	0,4,2199	175	119	138		1047	-1.2	1	1	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous	SLC6A17	NM_001010898.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		349/728	110734776	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1047C>T	1.37:g.110734776C>T			A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L349	ENST00000331565.4	37	c.1047	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.532	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	C	XM_371280		110734776	1	no_errors	ENST00000331565	ensembl	human	known	70_37	silent	SNP	0.983	T	T	110734776	C	T	110734776	2	4	56	1	0	0	0	0	0	0	0	1	14710	871	31	1		1	SLC6A17	1	110734776	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	17114496	110734776	138515845	9	7556										
FLG	2312	genome.wustl.edu	37	chr1	152277071	152277071	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtgtccacgaatggtgtcctGaccctcttgggacgctgagt	13	11	1	2	rs545185518		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:152277071G>A	ENST00000368799.1	-	3	10326	c.10291C>T	c.(10291-10293)Cag>Tag	p.Q3431*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3431	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCCTCTTGG	0.607									Ichthyosis																																								0													252	259	257					1																	152277071		2203	4299	6502	SO:0001587	stop_gained	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10291C>T	1.37:g.152277071G>A	ENSP00000357789:p.Gln3431*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q3431*	ENST00000368799.1	37	c.10291	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.968876	0.99850	.	.	ENSG00000143631	ENST00000368799	.	.	.	4.06	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	9.9333	0.41537	0.0:0.4413:0.5587:0.0	.	.	.	.	X	3431	.	ENSP00000357789:Q3431X	Q	-	1	0	FLG	150543695	0.000000	0.05858	0.009000	0.14445	0.031000	0.12232	-0.088000	0.11198	0.818000	0.34468	0.454000	0.30748	CAG	FLG	-	NULL		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152277071	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	152277071	G	A	152277071	4	1	56	1	0	0	0	0	0	1	0	0	5940	1299	45	1	1898	1	FLG	1	152277071	Nonsense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	41542295	152277071	96973550	10	7557										
FLG	2312	genome.wustl.edu	37	chr1	152277550	152277550	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gacgagtgcctgattgtctgGagcggtctgcagagtgcccg	16	10	2	2	rs200552322		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:152277550G>C	ENST00000368799.1	-	3	9847	c.9812C>G	c.(9811-9813)tCc>tGc	p.S3271C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3271	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTCTGGAGCGGTCTGC	0.582									Ichthyosis																																								0													310	307	308					1																	152277550		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9812C>G	1.37:g.152277550G>C	ENSP00000357789:p.Ser3271Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3271C	ENST00000368799.1	37	c.9812	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126133	0.20959	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00882	5.58	2.67	2.67	0.31697	.	.	.	.	.	T	0.01800	0.0057	M	0.72118	2.19	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.46569	-0.9182	9	0.66056	D	0.02	1.2554	8.9158	0.35581	0.0:0.0:1.0:0.0	.	3271	P20930	FILA_HUMAN	C	3271;209	ENSP00000357789:S3271C	ENSP00000357786:S209C	S	-	2	0	FLG	150544174	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.634000	0.24614	1.493000	0.48517	0.298000	0.19748	TCC	FLG	-	NULL		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152277550	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.002	C	C	152277550	G	C	152277550	3	2	56	1	0	0	0	0	1	0	0	0	5940	1174	41	1	2377	1	FLG	1	152277550	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	479	152277550	96973071	11	7558										
SSR2	6746	genome.wustl.edu	37	chr1	155979343	155979343	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agccccaatcagttcttcttCgttttgggagtgtcatattt	8	9	4	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:155979343C>T	ENST00000295702.4	-	6	611	c.540G>A	c.(538-540)acG>acA	p.T180T	SSR2_ENST00000496742.1_3'UTR|SSR2_ENST00000480567.1_Silent_p.T180T|SSR2_ENST00000529008.1_3'UTR	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	180					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTCTTCTTCGTTTTGGGAG	0.532																																																	0													127	112	117					1																	155979343		2203	4300	6503	SO:0001819	synonymous_variant	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.540G>A	1.37:g.155979343C>T			B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.T180	ENST00000295702.4	37	c.540	CCDS1126.1	1																																																																																			SSR2	-	pirsf_TRAP_beta		0.532	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155979343	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	silent	SNP	0.819	T	T	155979343	C	T	155979343	2	4	56	1	0	0	0	0	0	0	0	1	15221	871	31	1		1	SSR2	1	155979343	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	3701793	155979343	93271278	12	7559										
ZC3H11A	9877	genome.wustl.edu	37	chr1	203797541	203797541	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttgatggccttttcctacctCcgagcaaaagtgagatcagt	9	10	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:203797541C>G	ENST00000545588.1	+	4	4116	c.289C>G	c.(289-291)Ccg>Gcg	p.P97A	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P97A|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P97A|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P97A|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P97A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	97					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTCCTACCTCCGAGCAAAAG	0.358																																																	0													46	43	44					1																	203797541		2203	4300	6503	SO:0001583	missense	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.289C>G	1.37:g.203797541C>G	ENSP00000438527:p.Pro97Ala		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.P97A	ENST00000545588.1	37	c.289	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305987	0.81247	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70200	-0.4937	10	0.34782	T	0.22	-11.2135	17.4792	0.87668	0.0:1.0:0.0:0.0	.	97	O75152	ZC11A_HUMAN	A	97;97;43;97;97;97;97	ENSP00000356183:P97A;ENSP00000356181:P97A;ENSP00000333253:P97A;ENSP00000438527:P97A;ENSP00000356179:P97A	ENSP00000333253:P97A	P	+	1	0	ZC3H11A	202064164	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.420000	0.80191	2.472000	0.83506	0.655000	0.94253	CCG	ZC3H11A	-	NULL		0.358	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203797541	1	no_errors	ENST00000332127	ensembl	human	known	70_37	missense	SNP	1.000	G	G	203797541	C	G	203797541	3	3	56	1	0	0	0	0	1	0	0	0	17590	855	30	1	299	1	ZC3H11A	1	203797541	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	47818198	203797541	45453080	13	7560										
LRRN2	10446	genome.wustl.edu	37	chr1	204587429	204587429	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gctgtggccccctggccccgGagggaggaggcactggacca	17	14	0	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr1:204587429G>A	ENST00000367175.1	-	1	3904	c.1692C>T	c.(1690-1692)ctC>ctT	p.L564L	LRRN2_ENST00000367177.3_Silent_p.L564L|LRRN2_ENST00000367176.3_Silent_p.L564L|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	564					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCTGGCCCCGGAGGGAGGAGG	0.657																																																	0													66	68	67					1																	204587429		2203	4300	6503	SO:0001819	synonymous_variant	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1692C>T	1.37:g.204587429G>A			B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L564	ENST00000367175.1	37	c.1692	CCDS1448.1	1																																																																																			LRRN2	-	superfamily_Fibronectin_type3		0.657	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	G	NM_006338		204587429	-1	no_errors	ENST00000367175	ensembl	human	known	70_37	silent	SNP	0.913	A	A	204587429	G	A	204587429	2	1	56	1	0	0	0	0	0	0	0	1	9058	1161	41	1		1	LRRN2	1	204587429	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	789888	204587429	44663192	14	7561										
DNAH6	1768	genome.wustl.edu	37	chr2	84756046	84756046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agattcatcggccctatgttGaggtgttctctccctctcct	8	13	3	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:84756046G>C	ENST00000237449.6	+	3	426	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	DNAH6_ENST00000468661.1_Intron|DNAH6_ENST00000398278.2_Missense_Mutation_p.E140Q|DNAH6_ENST00000389394.3_Missense_Mutation_p.E140Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	140	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCCCTATGTTGAGGTGTTCTC	0.388																																																	0													117	86	95					2																	84756046		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.418G>C	2.37:g.84756046G>C	ENSP00000237449:p.Glu140Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E140Q	ENST00000237449.6	37	c.418	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	7.357	0.624047	0.14193	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	5.08	3.23	0.37069	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35992	-0.9766	9	0.15952	T	0.53	.	4.7332	0.12975	0.2518:0.1635:0.5846:0.0	.	140	Q9C0G6	DYH6_HUMAN	Q	140	ENSP00000374045:E140Q;ENSP00000381326:E140Q;ENSP00000237449:E140Q	ENSP00000237449:E140Q	E	+	1	0	DNAH6	84609557	0.711000	0.27906	0.005000	0.12908	0.050000	0.14768	2.497000	0.45354	0.605000	0.29947	0.511000	0.50034	GAG	DNAH6	-	NULL		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84756046	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.005	C	C	84756046	G	C	84756046	3	2	56	1	0	0	0	0	1	0	0	0	4615	1291	45	1	428	1	DNAH6	2	84756046	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		84756046	158443327	15	7562										
IL1R2	7850	genome.wustl.edu	37	chr2	102642604	102642604	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aaaataatgagaactacattGaagtgccattgatttttgat	7	4	0	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:102642604G>A	ENST00000332549.3	+	8	1148	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.E307K	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	307	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GAACTACATTGAAGTGCCATT	0.348																																					Pancreas(106;189 1628 2302 5133 12295)												0													115	112	113					2																	102642604		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.919G>A	2.37:g.102642604G>A	ENSP00000330959:p.Glu307Lys		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.E307K	ENST00000332549.3	37	c.919	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384647	0.82792	.	.	ENSG00000115590	ENST00000332549;ENST00000393414	T;T	0.13778	2.56;2.56	5.95	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000005	T	0.30823	0.0777	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.12863	-1.0531	10	0.12430	T	0.62	.	12.3709	0.55254	0.0786:0.0:0.9214:0.0	.	307	P27930	IL1R2_HUMAN	K	307	ENSP00000330959:E307K;ENSP00000377066:E307K	ENSP00000330959:E307K	E	+	1	0	IL1R2	102009036	1.000000	0.71417	0.961000	0.40146	0.965000	0.64279	5.483000	0.66838	1.532000	0.49169	0.655000	0.94253	GAA	IL1R2	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II		0.348	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	G	NM_004633		102642604	1	no_errors	ENST00000332549	ensembl	human	known	70_37	missense	SNP	0.999	A	A	102642604	G	A	102642604	3	1	56	1	0	0	0	0	1	0	0	0	7679	1291	45	1	945	1	IL1R2	2	102642604	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	17886558	102642604	140556769	16	7563										
MERTK	10461	genome.wustl.edu	37	chr2	112786126	112786126	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	acccttgctccactggacttGaacatcgaccctgactctat	6	15	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:112786126G>C	ENST00000295408.4	+	19	2942	c.2685G>C	c.(2683-2685)ttG>ttC	p.L895F	MERTK_ENST00000421804.2_Missense_Mutation_p.L895F|MERTK_ENST00000409780.1_Missense_Mutation_p.L719F			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	895					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACTGGACTTGAACATCGACC	0.547																																																	0													144	141	142					2																	112786126		2203	4300	6503	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2685G>C	2.37:g.112786126G>C	ENSP00000295408:p.Leu895Phe		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L895F	ENST00000295408.4	37	c.2685	CCDS2094.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.950|7.950	0.744598|0.744598	0.15710|0.15710	.|.	.|.	ENSG00000153208|ENSG00000153208	ENST00000393237|ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	.|T;T;T;D	.|0.84516	.|-0.98;-0.98;-0.97;-1.86	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.400270	.|0.17992	.|U	.|0.155190	T|T	0.75852|0.75852	0.3906|0.3906	L|L	0.44542|0.44542	1.39|1.39	0.22989|0.22989	N|N	0.99847|0.99847	.|B	.|0.28128	.|0.201	.|B	.|0.24541	.|0.054	T|T	0.60480|0.60480	-0.7255|-0.7255	6|10	0.20519|0.09590	T|T	0.43|0.72	-12.8996|-12.8996	8.6605|8.6605	0.34091|0.34091	0.0782:0.0:0.7696:0.1521|0.0782:0.0:0.7696:0.1521	.|.	.|895	.|Q12866	.|MERTK_HUMAN	Q|F	553|895;895;719;219	.|ENSP00000295408:L895F;ENSP00000389152:L895F;ENSP00000387277:L719F;ENSP00000412660:L219F	ENSP00000376929:E553Q|ENSP00000295408:L895F	E|L	+|+	1|3	0|2	MERTK|MERTK	112502597|112502597	0.855000|0.855000	0.29742|0.29742	0.963000|0.963000	0.40424|0.40424	0.013000|0.013000	0.08279|0.08279	1.748000|1.748000	0.38308|0.38308	2.571000|2.571000	0.86741|0.86741	0.655000|0.655000	0.94253|0.94253	GAA|TTG	MERTK	-	superfamily_Rhodanese-like_dom		0.547	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	G			112786126	1	no_errors	ENST00000295408	ensembl	human	known	70_37	missense	SNP	0.968	C	C	112786126	G	C	112786126	3	2	56	1	0	0	0	0	1	0	0	0	9502	1281	45	1	2759	1	MERTK	2	112786126	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	10143522	112786126	130413247	17	7564										
ZEB2	9839	genome.wustl.edu	37	chr2	145157221	145157221	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgactcactaccggaagaccGacaggcggaatattaggaga	12	9	1	3	rs587780994		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:145157221G>A	ENST00000558170.2	-	8	2717	c.1533C>T	c.(1531-1533)gtC>gtT	p.V511V	ZEB2_ENST00000303660.4_Silent_p.V511V|ZEB2_ENST00000539609.3_Silent_p.V487V|ZEB2_ENST00000409487.3_Silent_p.V511V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	511					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCGGAAGACCGACAGGCGGAA	0.423																																					Melanoma(33;1235 1264 5755 16332)												0													65	69	67					2																	145157221		2203	4300	6503	SO:0001819	synonymous_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1533C>T	2.37:g.145157221G>A			A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.V511	ENST00000558170.2	37	c.1533	CCDS2186.1	2																																																																																			ZEB2	-	NULL		0.423	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145157221	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	silent	SNP	0.888	A	A	145157221	G	A	145157221	2	1	56	1	0	0	0	0	0	0	0	1	17654	1045	37	1		1	ZEB2	2	145157221	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	32371095	145157221	98042152	18	7565										
COBLL1	22837	genome.wustl.edu	37	chr2	165550784	165550784	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aaaggctacagttaccttatCagacacaccaagctgtggga	9	10	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:165550784C>G	ENST00000392717.2	-	13	3350	c.3346G>C	c.(3346-3348)Gat>Cat	p.D1116H	COBLL1_ENST00000409184.3_Missense_Mutation_p.D1078H|COBLL1_ENST00000342193.4_Missense_Mutation_p.D1078H|COBLL1_ENST00000375458.2_Missense_Mutation_p.D1040H|COBLL1_ENST00000194871.6_Missense_Mutation_p.D1145H			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1116						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTACCTTATCAGACACACCA	0.398																																																	0													100	98	98					2																	165550784		2203	4300	6503	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3346G>C	2.37:g.165550784C>G	ENSP00000376478:p.Asp1116His		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.D1145H	ENST00000392717.2	37	c.3433		2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625918	0.66901	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.95	4.12	0.48240	.	0.370434	0.25657	N	0.029168	T	0.60405	0.2266	M	0.62723	1.935	0.30251	N	0.794062	D;D;D	0.69078	0.993;0.997;0.996	P;P;P	0.61132	0.769;0.867;0.884	T	0.62798	-0.6778	9	0.52906	T	0.07	-4.9534	12.0342	0.53415	0.0:0.8566:0.0:0.1434	.	1116;1145;1078	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	H	1040;1078;1078;1116;1145	.	ENSP00000194871:D1145H	D	-	1	0	COBLL1	165259030	0.418000	0.25440	0.482000	0.27366	0.017000	0.09413	2.153000	0.42282	0.807000	0.34208	0.655000	0.94253	GAT	COBLL1	-	NULL		0.398	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		C	NM_014900		165550784	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	missense	SNP	0.578	G	G	165550784	C	G	165550784	3	3	56	1	0	0	0	0	1	0	0	0	3659	826	29	1	280	1	COBLL1	2	165550784	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	20393563	165550784	77648589	19	7566										
SCN7A	6332	genome.wustl.edu	37	chr2	167289236	167289236	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttgcatgaactaaatgagctCaccaatgccagaaacaggta	8	9	1	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:167289236C>T	ENST00000409855.1	-	15	2310	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	728					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TAAATGAGCTCACCAATGCCA	0.323																																																	0													28	26	26					2																	167289236		1855	4096	5951	SO:0001819	synonymous_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2184G>A	2.37:g.167289236C>T				Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E760K	ENST00000409855.1	37	c.2278	CCDS46442.1	2																																																																																			SCN7A	-	NULL		0.323	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	C			167289236	-1	no_errors	ENST00000424326	ensembl	human	known	70_37	missense	SNP	0.999	T	T	167289236	C	T	167289236	2	4	56	1	0	0	0	0	0	0	0	1	13953	813	29	1		1	SCN7A	2	167289236	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1738452	167289236	75910137	20	7567										
LRP2	4036	genome.wustl.edu	37	chr2	170044576	170044576	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	attgtcacacttgaactcgtGaggtggacacgtgggttctg	13	8	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:170044576G>C	ENST00000263816.3	-	49	9517	c.9232C>G	c.(9232-9234)Cac>Gac	p.H3078D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3078	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTGAACTCGTGAGGTGGACAC	0.502																																																	0													156	128	137					2																	170044576		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9232C>G	2.37:g.170044576G>C	ENSP00000263816:p.His3078Asp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H3078D	ENST00000263816.3	37	c.9232	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	8.061	0.768134	0.15983	.	.	ENSG00000081479	ENST00000263816	D	0.94966	-3.57	5.82	4.93	0.64822	.	0.162812	0.56097	D	0.000022	D	0.85124	0.5625	N	0.03608	-0.345	0.80722	D	1	B	0.16603	0.018	B	0.22753	0.041	T	0.80336	-0.1425	10	0.05959	T	0.93	.	16.2637	0.82563	0.0:0.0:0.8662:0.1338	.	3078	P98164	LRP2_HUMAN	D	3078	ENSP00000263816:H3078D	ENSP00000263816:H3078D	H	-	1	0	LRP2	169752822	1.000000	0.71417	0.954000	0.39281	0.001000	0.01503	4.032000	0.57274	1.456000	0.47831	-0.188000	0.12872	CAC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170044576	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.998	C	C	170044576	G	C	170044576	3	2	56	1	0	0	0	0	1	0	0	0	8979	1290	45	1	4859	1	LRP2	2	170044576	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	2755340	170044576	73154797	21	7568										
ZC3H15	55854	genome.wustl.edu	37	chr2	187373329	187373329	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atggtgaaagaagtgacttgGaagaggacaacgagagggag	17	3	0	5			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:187373329G>T	ENST00000337859.6	+	10	1377	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	384					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			AAGTGACTTGGAAGAGGACAA	0.408																																																	0													149	151	150					2																	187373329		1876	4114	5990	SO:0001587	stop_gained	55854				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.1150G>T	2.37:g.187373329G>T	ENSP00000338788:p.Glu384*		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E384*	ENST00000337859.6	37	c.1150	CCDS42791.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.947984	0.97134	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	.	.	.	5.77	5.77	0.91146	.	0.365850	0.30437	N	0.009630	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-14.1022	17.7667	0.88480	0.0:0.0:1.0:0.0	.	.	.	.	X	384	.	ENSP00000338788:E384X	E	+	1	0	ZC3H15	187081574	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	5.666000	0.68059	2.724000	0.93272	0.650000	0.86243	GAA	ZC3H15	-	NULL		0.408	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	G	NM_018471		187373329	1	no_errors	ENST00000337859	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	187373329	G	T	187373329	4	4	56	1	0	0	0	0	0	1	0	0	17597	1175	41	3	1188	3	ZC3H15	2	187373329	Nonsense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	17328753	187373329	55826044	22	7569										
ALS2CR11	151254	genome.wustl.edu	37	chr2	202483811	202483811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gacctgcccgctgcggttatCaagtgtgctgaaaggcctat	12	11	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:202483811C>G	ENST00000286195.3	-	1	87	c.43G>C	c.(43-45)Gat>Cat	p.D15H	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D15H|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D15H|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.D15H	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	15										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTGCGGTTATCAAGTGTGCTG	0.607																																																	0													110	102	105					2																	202483811		2203	4300	6503	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.43G>C	2.37:g.202483811C>G	ENSP00000286195:p.Asp15His		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D15H	ENST00000286195.3	37	c.43	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971881	0.34754	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.53206	0.64;0.63;0.63;0.63	3.34	1.51	0.23008	.	1.411910	0.04998	N	0.468587	T	0.42063	0.1186	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21452	0.02;0.056;0.056	B;B;B	0.17979	0.011;0.02;0.02	T	0.37384	-0.9708	10	0.66056	D	0.02	.	4.8097	0.13337	0.0:0.6559:0.2208:0.1233	.	15;15;15	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	H	15	ENSP00000286195:D15H;ENSP00000400672:D15H;ENSP00000409937:D15H;ENSP00000399016:D15H	ENSP00000286195:D15H	D	-	1	0	ALS2CR11	202192056	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.467000	0.22035	0.424000	0.26061	0.563000	0.77884	GAT	ALS2CR11	-	NULL		0.607	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202483811	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	missense	SNP	0.000	G	G	202483811	C	G	202483811	3	3	56	1	0	0	0	0	1	0	0	0	552	826	29	1	5630	1	ALS2CR11	2	202483811	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	15110482	202483811	40715562	23	7570										
IKZF2	22807	genome.wustl.edu	37	chr2	213886824	213886824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgcgctgcttgtagcttcgtCcacagtagttgcacttgtga	11	10	0	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:213886824C>G	ENST00000434687.1	-	7	914	c.605G>C	c.(604-606)gGa>gCa	p.G202A	IKZF2_ENST00000413091.3_Missense_Mutation_p.G202A|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.G208A|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Missense_Mutation_p.G176A|IKZF2_ENST00000457361.1_Missense_Mutation_p.G202A|IKZF2_ENST00000374319.4_Missense_Mutation_p.G176A|IKZF2_ENST00000374327.4_Missense_Mutation_p.G57A			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	202					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTAGCTTCGTCCACAGTAGTT	0.483																																																	0													137	117	124					2																	213886824		2203	4300	6503	SO:0001583	missense	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.605G>C	2.37:g.213886824C>G	ENSP00000412869:p.Gly202Ala		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G202A	ENST00000434687.1	37	c.605	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.267773	0.95399	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000421754;ENST00000374327;ENST00000413091	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;2.01;2.01;0.24;-0.16	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.62723	1.935	0.80722	D	1	D;D;P;B	0.76494	0.999;0.991;0.569;0.039	D;P;B;B	0.87578	0.998;0.813;0.422;0.096	T	0.79424	-0.1809	10	0.87932	D	0	-5.1298	20.0539	0.97641	0.0:1.0:0.0:0.0	.	176;57;176;202	C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	A	202;208;202;176;176;57;202	ENSP00000410447:G202A;ENSP00000342876:G208A;ENSP00000412869:G202A;ENSP00000363439:G176A;ENSP00000399574:G176A;ENSP00000363447:G57A;ENSP00000402334:G202A	ENSP00000342876:G208A	G	-	2	0	IKZF2	213595069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.965000	0.70387	2.740000	0.93945	0.650000	0.86243	GGA	IKZF2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	C	NM_016260		213886824	-1	no_errors	ENST00000434687	ensembl	human	known	70_37	missense	SNP	1.000	G	G	213886824	C	G	213886824	3	3	56	1	0	0	0	0	1	0	0	0	7635	855	30	1	987	1	IKZF2	2	213886824	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	11403013	213886824	29312549	24	7571										
FAM124B	79843	genome.wustl.edu	37	chr2	225244772	225244772	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cccactgggctcaggaagctCcagagaatgcccctgggacc	12	15	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr2:225244772C>G	ENST00000409685.3	-	2	1151	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	FAM124B_ENST00000389874.3_3'UTR	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	296										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCAGGAAGCTCCAGAGAATGC	0.617																																																	0													27	32	31					2																	225244772		692	1591	2283	SO:0001583	missense	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.886G>C	2.37:g.225244772C>G	ENSP00000386895:p.Glu296Gln		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.E296Q	ENST00000409685.3	37	c.886	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040860	0.35989	.	.	ENSG00000124019	ENST00000409685	T	0.34472	1.36	5.81	4.01	0.46588	.	.	.	.	.	T	0.37128	0.0992	L	0.27053	0.805	0.21499	N	0.999662	D	0.56746	0.977	P	0.55923	0.787	T	0.09378	-1.0677	9	0.45353	T	0.12	-13.3325	8.1074	0.30894	0.0:0.8222:0.0:0.1778	.	296	Q9H5Z6	F124B_HUMAN	Q	296	ENSP00000386895:E296Q	ENSP00000386895:E296Q	E	-	1	0	FAM124B	224953016	0.007000	0.16637	0.127000	0.21898	0.555000	0.35460	0.866000	0.27954	1.448000	0.47680	0.655000	0.94253	GAG	FAM124B	-	NULL		0.617	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	C	NM_024785		225244772	-1	no_errors	ENST00000409685	ensembl	human	known	70_37	missense	SNP	0.018	G	G	225244772	C	G	225244772	3	3	56	1	0	0	0	0	1	0	0	0	5441	864	30	1	485	1	FAM124B	2	225244772	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	11357948	225244772	17954601	25	7572										
SRGAP3	9901	genome.wustl.edu	37	chr3	9057375	9057375	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aaaacaccagcgactgaattGatatctcgttcattttgatc	6	9	2	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:9057375G>C	ENST00000383836.3	-	15	2146	c.1719C>G	c.(1717-1719)atC>atG	p.I573M	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.I549M|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	573	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGACTGAATTGATATCTCGTT	0.413			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													97	99	98					3																	9057375		2203	4300	6503	SO:0001583	missense	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1719C>G	3.37:g.9057375G>C	ENSP00000373347:p.Ile573Met		Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.I573M	ENST00000383836.3	37	c.1719	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260334	0.39995	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.48201	0.82;1.82	5.29	4.3	0.51218	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	L	0.59912	1.85	0.47698	D	0.999491	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.984	T	0.54715	-0.8252	10	0.30854	T	0.27	.	6.5135	0.22234	0.2662:0.0:0.7338:0.0	.	549;573	O43295-2;O43295	.;SRGP2_HUMAN	M	573;549	ENSP00000373347:I573M;ENSP00000353587:I549M	ENSP00000353587:I549M	I	-	3	3	SRGAP3	9032375	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.975000	0.29449	2.455000	0.83008	0.655000	0.94253	ATC	SRGAP3	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.413	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	G			9057375	-1	no_errors	ENST00000383836	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9057375	G	C	9057375	3	2	56	1	0	0	0	0	1	0	0	0	15177	1280	45	1	1612	1	SRGAP3	3	9057375	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		9057375	188965055	26	7573										
B4GALT4	8702	genome.wustl.edu	37	chr3	118945761	118945761	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tctctgttccggtggggaacGaggatggcgaccctctgtaa	14	10	2	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:118945761G>A	ENST00000483209.1	-	4	1022	c.381C>T	c.(379-381)ctC>ctT	p.L127L	B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000467604.1_Silent_p.L127L|B4GALT4_ENST00000359213.3_Silent_p.L127L|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000393765.2_Silent_p.L127L|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	127					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGTGGGGAACGAGGATGGCGA	0.527																																																	0													125	100	109					3																	118945761		2203	4300	6503	SO:0001819	synonymous_variant	8702			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.381C>T	3.37:g.118945761G>A			Q68D68|Q9BSW3|Q9C078	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.L127	ENST00000483209.1	37	c.381	CCDS2986.1	3																																																																																			B4GALT4	-	pfam_Galactosyl_T_2_met		0.527	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT4	HGNC	protein_coding	OTTHUMT00000354925.2	G	NM_003778		118945761	-1	no_errors	ENST00000359213	ensembl	human	known	70_37	silent	SNP	1.000	A	A	118945761	G	A	118945761	2	1	56	1	0	0	0	0	0	0	0	1	1274	1045	37	1		1	B4GALT4	3	118945761	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	109888386	118945761	79076669	27	7574										
GTF2E1	2960	genome.wustl.edu	37	chr3	120469678	120469678	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	actcgccataactactacttCatcaattatcgtactcttgt	3	12	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:120469678C>G	ENST00000283875.5	+	2	372	c.279C>G	c.(277-279)ttC>ttG	p.F93L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	93	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACTACTACTTCATCAATTATC	0.403																																																	0													74	74	74					3																	120469678		2203	4300	6503	SO:0001583	missense	2960			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.279C>G	3.37:g.120469678C>G	ENSP00000283875:p.Phe93Leu		Q16103	Missense_Mutation	SNP	pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu	p.F93L	ENST00000283875.5	37	c.279	CCDS3002.1	3	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891678	0.72524	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.49720	0.77	6.06	-2.14	0.07123	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.66939	2.045	0.80722	D	1	D;D	0.56746	0.977;0.977	D;P	0.66716	0.946;0.899	T	0.58668	-0.7596	9	.	.	.	-20.1624	12.2064	0.54355	0.0:0.5258:0.0:0.4742	.	93;93	P29083;Q53F88	T2EA_HUMAN;.	L	93	ENSP00000283875:F93L	.	F	+	3	2	GTF2E1	121952368	0.999000	0.42202	0.993000	0.49108	0.870000	0.49936	0.694000	0.25512	-0.278000	0.09180	-0.290000	0.09829	TTC	GTF2E1	-	pfam_TFIIEa/SarR/Rpc3_HTH_dom,smart_TFIIE_asu		0.403	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E1	HGNC	protein_coding	OTTHUMT00000356770.1	C	NM_005513		120469678	1	no_errors	ENST00000283875	ensembl	human	known	70_37	missense	SNP	0.997	G	G	120469678	C	G	120469678	3	3	56	1	0	0	0	0	1	0	0	0	6876	825	29	1	281	1	GTF2E1	3	120469678	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1523917	120469678	77552752	28	7575										
SLCO2A1	6578	genome.wustl.edu	37	chr3	133698338	133698338	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgctcacctcattcaagctgGaaatgagacccgatgaagaa	9	10	3	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:133698338G>C	ENST00000310926.4	-	2	494	c.221C>G	c.(220-222)tCc>tGc	p.S74C	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S74C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	74					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	ATTCAAGCTGGAAATGAGACC	0.552																																																	0													150	146	148					3																	133698338		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.221C>G	3.37:g.133698338G>C	ENSP00000311291:p.Ser74Cys		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S74C	ENST00000310926.4	37	c.221	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544426	0.86022	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.59772	0.24;0.24	5.06	5.06	0.68205	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.114234	0.64402	D	0.000006	T	0.79941	0.4533	M	0.87682	2.9	0.40347	D	0.979094	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.83410	0.0027	10	0.52906	T	0.07	.	18.4279	0.90615	0.0:0.0:1.0:0.0	.	74;74;74	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	C	74	ENSP00000311291:S74C;ENSP00000418893:S74C	ENSP00000311291:S74C	S	-	2	0	SLCO2A1	135181028	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.430000	0.97488	2.351000	0.79841	0.561000	0.74099	TCC	SLCO2A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.552	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	G	NM_005630		133698338	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133698338	G	C	133698338	3	2	56	1	0	0	0	0	1	0	0	0	14756	1174	41	1	1762	1	SLCO2A1	3	133698338	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	13228660	133698338	64324092	29	7576										
AMOTL2	51421	genome.wustl.edu	37	chr3	134077427	134077427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gctgcaccccagaaggctgtCaggctccggtggcaggcagg	16	13	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:134077427C>G	ENST00000422605.2	-	9	2402	c.2236G>C	c.(2236-2238)Gac>Cac	p.D746H	RPL39P5_ENST00000273411.2_RNA|AMOTL2_ENST00000514516.1_Missense_Mutation_p.D804H|AMOTL2_ENST00000249883.5_Missense_Mutation_p.D747H|AMOTL2_ENST00000513145.1_Missense_Mutation_p.D744H			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	746					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGAAGGCTGTCAGGCTCCGGT	0.657											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													38	38	38					3																	134077427		2203	4300	6503	SO:0001583	missense	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.2236G>C	3.37:g.134077427C>G	ENSP00000409999:p.Asp746His	1607	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.D747H	ENST00000422605.2	37	c.2239		3	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323696	0.41096	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.18174	2.24;2.24;2.23;2.24	5.37	3.46	0.39613	.	0.911667	0.09551	N	0.786973	T	0.19725	0.0474	L	0.44542	1.39	0.09310	N	1	P;P;P	0.50617	0.899;0.899;0.937	P;P;P	0.48141	0.568;0.568;0.501	T	0.13045	-1.0524	10	0.49607	T	0.09	-23.2987	6.1443	0.20276	0.0:0.677:0.1561:0.1669	.	744;747;804	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	H	747;746;804;744	ENSP00000249883:D747H;ENSP00000409999:D746H;ENSP00000424765:D804H;ENSP00000425475:D744H	ENSP00000249883:D747H	D	-	1	0	AMOTL2	135560117	0.767000	0.28508	0.820000	0.32676	0.476000	0.33039	1.399000	0.34566	1.262000	0.44165	0.655000	0.94253	GAC	AMOTL2	-	NULL		0.657	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	C	NM_016201		134077427	-1	no_errors	ENST00000249883	ensembl	human	known	70_37	missense	SNP	0.069	G	G	134077427	C	G	134077427	3	3	56	1	0	0	0	0	1	0	0	0	584	826	29	1	111	1	AMOTL2	3	134077427	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	379089	134077427	63945003	30	7577										
PARL	55486	genome.wustl.edu	37	chr3	183585786	183585786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttgtccctgggtctgatcttCgaggttcaaccttcctgggt	11	11	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:183585786C>T	ENST00000317096.4	-	2	248	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	PARL_ENST00000435888.1_Missense_Mutation_p.R63Q|PARL_ENST00000311101.5_Missense_Mutation_p.R63Q	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	63					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTCTGATCTTCGAGGTTCAAC	0.423																																																	0													119	108	112					3																	183585786		2203	4300	6503	SO:0001583	missense	55486			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.188G>A	3.37:g.183585786C>T	ENSP00000325421:p.Arg63Gln		Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom	p.R63Q	ENST00000317096.4	37	c.188	CCDS3248.1	3	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104920	0.56291	.	.	ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888	T;T;T	0.75154	-0.91;-0.91;-0.91	5.19	4.32	0.51571	.	0.307997	0.30011	N	0.010628	T	0.59729	0.2215	L	0.46157	1.445	0.36447	D	0.865878	P;P	0.49862	0.871;0.929	B;B	0.33454	0.156;0.164	T	0.67829	-0.5569	10	0.51188	T	0.08	-6.171	8.1468	0.31117	0.0:0.8168:0.0:0.1832	.	63;63	Q9H300-2;Q9H300	.;PARL_HUMAN	Q	63	ENSP00000325421:R63Q;ENSP00000310676:R63Q;ENSP00000402137:R63Q	ENSP00000310676:R63Q	R	-	2	0	PARL	185068480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.692000	0.37731	1.314000	0.45095	0.655000	0.94253	CGA	PARL	-	NULL		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	HGNC	protein_coding	OTTHUMT00000346465.1	C	NM_018622		183585786	-1	no_errors	ENST00000317096	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183585786	C	T	183585786	3	4	56	1	0	0	0	0	1	0	0	0	11475	884	31	1	987	1	PARL	3	183585786	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	49508359	183585786	14436644	31	7578										
GP5	2814	genome.wustl.edu	37	chr3	194118225	194118225	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agtcagattgtgcgaatgaaGaaagagcgcagaggggagaa	16	4	1	6			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr3:194118225G>C	ENST00000401815.1	-	1	858	c.787C>G	c.(787-789)Ctt>Gtt	p.L263V	GP5_ENST00000323007.3_Missense_Mutation_p.L263V			P40197	GPV_HUMAN	glycoprotein V (platelet)	263					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TGCGAATGAAGAAAGAGCGCA	0.597																																																	0													43	49	47					3																	194118225		2202	4300	6502	SO:0001583	missense	2814			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.787C>G	3.37:g.194118225G>C	ENSP00000383931:p.Leu263Val		D1MER9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L263V	ENST00000401815.1	37	c.787	CCDS3307.1	3	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754667	0.31046	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.24908	1.83;1.83	4.06	3.17	0.36434	.	0.000000	0.33631	N	0.004717	T	0.30039	0.0752	N	0.20357	0.565	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.20940	-1.0260	10	0.12103	T	0.63	.	13.5954	0.61987	0.0:0.0:0.8427:0.1573	.	263	P40197	GPV_HUMAN	V	263	ENSP00000383931:L263V;ENSP00000319286:L263V	ENSP00000319286:L263V	L	-	1	0	GP5	195599514	0.074000	0.21230	0.050000	0.19076	0.417000	0.31264	1.629000	0.37071	0.960000	0.38005	0.455000	0.32223	CTT	GP5	-	smart_Leu-rich_rpt_typical-subtyp		0.597	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	G	NM_004488		194118225	-1	no_errors	ENST00000323007	ensembl	human	known	70_37	missense	SNP	0.013	C	C	194118225	G	C	194118225	3	2	56	1	0	0	0	0	1	0	0	0	6602	942	33	1	899	1	GP5	3	194118225	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	10532439	194118225	3904205	32	7579										
DCUN1D4	23142	genome.wustl.edu	37	chr4	52709416	52709416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gagctgcctgaaaatgcactCggatgccgccgctgtcagtg	13	12	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr4:52709416C>G	ENST00000334635.5	+	1	188	c.8C>G	c.(7-9)tCg>tGg	p.S3W	DCUN1D4_ENST00000381441.3_Missense_Mutation_p.S3W|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000451288.2_5'Flank	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	3						nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAAATGCACTCGGATGCCGCC	0.726																																																	0													7	9	8					4																	52709416		1792	3522	5314	SO:0001583	missense	23142			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.8C>G	4.37:g.52709416C>G	ENSP00000334625:p.Ser3Trp		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	pfam_PONY_dom	p.S3W	ENST00000334635.5	37	c.8	CCDS33982.1	4	.	.	.	.	.	.	.	.	.	.	c	10.11	1.260856	0.23051	.	.	ENSG00000109184	ENST00000334635;ENST00000381441	.	.	.	4.25	2.51	0.30379	.	1.512270	0.04081	U	0.309678	T	0.36826	0.0981	N	0.08118	0	0.80722	D	1	P;P	0.48640	0.913;0.859	P;P	0.47075	0.465;0.536	T	0.03875	-1.0996	9	0.87932	D	0	.	6.9126	0.24342	0.0:0.7794:0.0:0.2206	.	3;3	Q92564-2;Q92564	.;DCNL4_HUMAN	W	3	.	ENSP00000334625:S3W	S	+	2	0	DCUN1D4	52404173	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	2.538000	0.45710	0.267000	0.21916	0.454000	0.30748	TCG	DCUN1D4	-	NULL		0.726	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	DCUN1D4	HGNC	protein_coding	OTTHUMT00000250599.2	C	NM_015115		52709416	1	no_errors	ENST00000334635	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52709416	C	G	52709416	3	3	56	1	0	0	0	0	1	0	0	0	4321	893	31	1	10	1	DCUN1D4	4	52709416	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		52709416	138444860	33	7580										
ODAM	54959	genome.wustl.edu	37	chr4	71063015	71063015	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttcttaatcttaataatggtCaacttttgccactacaactt	3	9	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr4:71063015C>G	ENST00000396094.2	+	3	166	c.118C>G	c.(118-120)Caa>Gaa	p.Q40E		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	40					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TAATAATGGTCAACTTTTGCC	0.269																																																	0													111	103	105					4																	71063015		1803	4059	5862	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.118C>G	4.37:g.71063015C>G	ENSP00000379401:p.Gln40Glu		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	NULL	p.Q40E	ENST00000396094.2	37	c.118	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	C	2.663	-0.279388	0.05642	.	.	ENSG00000109205	ENST00000396094;ENST00000510709	T	0.47177	0.85	4.68	2.78	0.32641	.	.	.	.	.	T	0.39937	0.1097	L	0.46157	1.445	0.09310	N	0.999998	B	0.22683	0.073	B	0.24701	0.055	T	0.35375	-0.9791	9	0.54805	T	0.06	0.1808	7.2434	0.26109	0.1951:0.6162:0.1886:0.0	.	40	A1E959	ODAM_HUMAN	E	40;26	ENSP00000379401:Q40E	ENSP00000379401:Q40E	Q	+	1	0	ODAM	71097604	0.250000	0.23951	0.660000	0.29694	0.013000	0.08279	0.608000	0.24223	1.318000	0.45170	0.591000	0.81541	CAA	ODAM	-	NULL		0.269	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	C	NM_017855		71063015	1	no_errors	ENST00000396094	ensembl	human	known	70_37	missense	SNP	0.451	G	G	71063015	C	G	71063015	3	3	56	1	0	0	0	0	1	0	0	0	10848	827	29	1	128	1	ODAM	4	71063015	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	18353599	71063015	120091261	34	7581										
DMP1	1758	genome.wustl.edu	37	chr4	88584240	88584240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggagggcctccagtctcacaGcagctcagcagagagtcaga	13	12	3	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr4:88584240G>T	ENST00000339673.6	+	6	1409	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S421I	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	437					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGTCTCACAGCAGCTCAGCA	0.557																																																	0													55	55	55					4																	88584240		2203	4300	6503	SO:0001583	missense	1758			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1310G>T	4.37:g.88584240G>T	ENSP00000340935:p.Ser437Ile		A1L4L3|O43265	Missense_Mutation	SNP	pfam_DMP1	p.S437I	ENST00000339673.6	37	c.1310	CCDS3623.1	4	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459120	0.26248	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.54479	0.57;0.57	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.73118	0.3546	M	0.76328	2.33	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76310	-0.3006	10	0.87932	D	0	-15.6548	16.9572	0.86262	0.0:0.0:1.0:0.0	.	421;437	Q13316-2;Q13316	.;DMP1_HUMAN	I	437;421	ENSP00000340935:S437I;ENSP00000282479:S421I	ENSP00000282479:S421I	S	+	2	0	DMP1	88803264	1.000000	0.71417	0.054000	0.19295	0.008000	0.06430	6.190000	0.72057	2.520000	0.84964	0.591000	0.81541	AGC	DMP1	-	pfam_DMP1		0.557	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMP1	HGNC	protein_coding	OTTHUMT00000253047.1	G			88584240	1	no_errors	ENST00000339673	ensembl	human	known	70_37	missense	SNP	0.761	T	T	88584240	G	T	88584240	3	4	56	1	0	0	0	0	1	0	0	0	4593	971	34	4	1328	4	DMP1	4	88584240	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	17521225	88584240	102570036	35	7582										
KLKB1	3818	genome.wustl.edu	37	chr4	187153292	187153292	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ctgtcacaggatgtctgactCaactctatgaaaacgccttc	7	12	4	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr4:187153292C>G	ENST00000264690.6	+	3	257	c.70C>G	c.(70-72)Caa>Gaa	p.Q24E	KLKB1_ENST00000513864.1_Missense_Mutation_p.Q24E	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	24	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATGTCTGACTCAACTCTATGA	0.398																																																	0													106	96	100					4																	187153292		2203	4300	6503	SO:0001583	missense	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.70C>G	4.37:g.187153292C>G	ENSP00000264690:p.Gln24Glu		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A	p.Q24E	ENST00000264690.6	37	c.70	CCDS34120.1	4	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303244	0.23736	.	.	ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000513864	D;D;D	0.88818	-2.43;-2.43;-2.43	5.25	4.41	0.53225	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.085106	0.50627	D	0.000112	D	0.89518	0.6738	L	0.49699	1.58	0.20403	N	0.99991	D	0.58970	0.984	P	0.55508	0.777	T	0.81590	-0.0863	10	0.21540	T	0.41	.	13.1659	0.59571	0.0:0.8393:0.1607:0.0	.	24	P03952	KLKB1_HUMAN	E	24	ENSP00000412366:Q24E;ENSP00000264690:Q24E;ENSP00000424469:Q24E	ENSP00000264690:Q24E	Q	+	1	0	KLKB1	187390286	0.497000	0.26067	0.593000	0.28771	0.089000	0.18198	1.440000	0.35024	1.430000	0.47334	-0.302000	0.09304	CAA	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.398	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	C	NM_000892		187153292	1	no_errors	ENST00000264690	ensembl	human	known	70_37	missense	SNP	0.516	G	G	187153292	C	G	187153292	3	3	56	1	0	0	0	0	1	0	0	0	8432	827	29	1	76	1	KLKB1	4	187153292	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	98569052	187153292	4000984	36	7583										
TRIO	7204	genome.wustl.edu	37	chr5	14485296	14485296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttcatctagtccaagtgtccGgcaaacttggatccatgaaa	8	10	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:14485296G>A	ENST00000344204.4	+	47	6800	c.6776G>A	c.(6775-6777)cGg>cAg	p.R2259Q	TRIO_ENST00000537187.1_Missense_Mutation_p.R2259Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2259	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCAAGTGTCCGGCAAACTTGG	0.403																																																	0													123	118	119					5																	14485296		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6776G>A	5.37:g.14485296G>A	ENSP00000339299:p.Arg2259Gln		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R2259Q	ENST00000344204.4	37	c.6776	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853673	0.71719	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.12361	2.69;2.69	5.34	4.47	0.54385	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.123877	0.56097	D	0.000035	T	0.10809	0.0264	L	0.42245	1.32	0.49299	D	0.999771	B;P	0.42692	0.252;0.787	B;B	0.30251	0.089;0.113	T	0.07809	-1.0753	10	0.40728	T	0.16	.	13.9719	0.64245	0.0727:0.0:0.9273:0.0	.	2259;2259	O75962-5;O75962	.;TRIO_HUMAN	Q	2259;2259;1946	ENSP00000339299:R2259Q;ENSP00000446348:R2259Q	ENSP00000339299:R2259Q	R	+	2	0	TRIO	14538296	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.869000	0.99810	1.260000	0.44134	-0.142000	0.14014	CGG	TRIO	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14485296	1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14485296	G	A	14485296	3	1	56	1	0	0	0	0	1	0	0	0	16583	1116	39	2	6962	2	TRIO	5	14485296	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		14485296	166429964	37	7584										
ZNF366	167465	genome.wustl.edu	37	chr5	71740119	71740119	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gattctcccccttcccagacCtgcaagagcagagtaagaat	8	13	1	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:71740119C>G	ENST00000318442.5	-	5	2190		c.e5-1		RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366						negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTTCCCAGACCTGCAAGAGCA	0.582																																																	0													28	33	32					5																	71740119		2165	4274	6439	SO:0001630	splice_region_variant	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1700-1G>C	5.37:g.71740119C>G			Q5HYI9|Q7RTV4	Splice_Site	SNP	-	e4-1	ENST00000318442.5	37	c.1700-1	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707289	0.30322	.	.	ENSG00000178175	ENST00000318442	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF366	71775875	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.165000	0.71891	2.941000	0.99782	0.655000	0.94253	.	ZNF366	-	-		0.582	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	C		Intron	71740119	-1	no_errors	ENST00000318442	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	71740119	C	G	71740119	5	3	56	1	0	0	0	0	0	0	1	0	17900	695	24	4	539	4	ZNF366	5	71740119	Splice_Site	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	57254823	71740119	109175141	38	7585										
GPR98	84059	genome.wustl.edu	37	chr5	89985773	89985773	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tcattaatgatatctatcctGaactggaagaatcttttctt	5	7	4	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:89985773G>A	ENST00000405460.2	+	30	6682	c.6586G>A	c.(6586-6588)Gaa>Aaa	p.E2196K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2196	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCTATCCTGAACTGGAAGA	0.408																																																	0													71	67	68					5																	89985773		1839	4091	5930	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6586G>A	5.37:g.89985773G>A	ENSP00000384582:p.Glu2196Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E2196K	ENST00000405460.2	37	c.6586	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.568219	0.96540	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.61274	0.12	5.36	5.36	0.76844	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85473	0.1174	10	0.87932	D	0	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2196	Q8WXG9	GPR98_HUMAN	K	2196	ENSP00000384582:E2196K	ENSP00000296619:E2196K	E	+	1	0	GPR98	90021529	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.525000	0.98039	2.501000	0.84356	0.650000	0.86243	GAA	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89985773	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89985773	G	A	89985773	3	1	56	1	0	0	0	0	1	0	0	0	6741	1291	45	1	6704	1	GPR98	5	89985773	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	18245654	89985773	90929487	39	7586										
FBN2	2201	genome.wustl.edu	37	chr5	127653955	127653955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtttataggatctgcacactCatcaatatctaggagaagca	8	8	4	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:127653955C>T	ENST00000508053.1	-	42	5577	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1535K			P35556	FBN2_HUMAN	fibrillin 2	1535	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTGCACACTCATCAATATCT	0.423																																																	0													212	206	208					5																	127653955		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4603G>A	5.37:g.127653955C>T	ENSP00000424571:p.Glu1535Lys		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.E1535K	ENST00000508053.1	37	c.4603	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.591783	0.96590	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.98849	-5.18;-5.18	5.16	5.16	0.70880	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.99357	0.9774	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98866	1.0764	10	0.87932	D	0	.	18.82	0.92092	0.0:1.0:0.0:0.0	.	1535	P35556	FBN2_HUMAN	K	1535	ENSP00000262464:E1535K;ENSP00000424571:E1535K	ENSP00000262464:E1535K	E	-	1	0	FBN2	127681854	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.840000	0.97914	0.655000	0.94253	GAG	FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127653955	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127653955	C	T	127653955	3	4	56	1	0	0	0	0	1	0	0	0	5721	835	29	1	4255	1	FBN2	5	127653955	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	37668182	127653955	53261305	40	7587										
HSPA9	3313	genome.wustl.edu	37	chr5	137904654	137904654	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atcaacacaaatgctccaatCtgactcggagaatacaattt	5	10	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:137904654C>G	ENST00000297185.3	-	5	620	c.495G>C	c.(493-495)caG>caC	p.Q165H	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	165					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGCTCCAATCTGACTCGGAG	0.418																																																	0													120	115	116					5																	137904654		2203	4300	6503	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.495G>C	5.37:g.137904654C>G	ENSP00000297185:p.Gln165His		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.Q165H	ENST00000297185.3	37	c.495	CCDS4208.1	5	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607859	0.66558	.	.	ENSG00000113013	ENST00000297185;ENST00000540484	T	0.01178	5.22	5.21	1.42	0.22433	.	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	H	0.98295	4.195	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01378	-1.1370	10	0.87932	D	0	-9.4474	10.1545	0.42814	0.0:0.664:0.0:0.336	.	96;165	B7Z1V7;P38646	.;GRP75_HUMAN	H	165;151	ENSP00000297185:Q165H	ENSP00000297185:Q165H	Q	-	3	2	HSPA9	137932553	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	1.008000	0.29872	0.037000	0.15575	0.655000	0.94253	CAG	HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK		0.418	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	C	NM_004134		137904654	-1	no_errors	ENST00000297185	ensembl	human	known	70_37	missense	SNP	0.995	G	G	137904654	C	G	137904654	3	3	56	1	0	0	0	0	1	0	0	0	7437	912	32	1	1596	1	HSPA9	5	137904654	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	10250699	137904654	43010606	41	7588										
PCDHA1	56147	genome.wustl.edu	37	chr5	140167072	140167072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtccccttcaagctggtgtcCaccttcaagaattactactc	6	14	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:140167072C>T	ENST00000504120.2	+	1	1197	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	PCDHA1_ENST00000378133.3_Silent_p.S399S|PCDHA1_ENST00000394633.3_Silent_p.S399S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	399	Cadherin 4. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGTCCACCTTCAAGA	0.617																																																	0													138	123	128					5																	140167072		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1197C>T	5.37:g.140167072C>T			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S399	ENST00000504120.2	37	c.1197	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.617	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140167072	1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.945	T	T	140167072	C	T	140167072	2	4	56	1	0	0	0	0	0	0	0	1	11543	581	21	4		4	PCDHA1	5	140167072	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	2262418	140167072	40748188	42	7589										
ARAP3	64411	genome.wustl.edu	37	chr5	141035268	141035268	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aggcatagtgccaaacttctGacgggcaaggtcagaggagg	15	8	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:141035268G>A	ENST00000239440.4	-	31	4095	c.4030C>T	c.(4030-4032)Cag>Tag	p.Q1344*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q1006*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q1175*|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1344					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCAAACTTCTGACGGGCAAGG	0.602																																																	0													92	84	87					5																	141035268		2203	4300	6503	SO:0001587	stop_gained	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4030C>T	5.37:g.141035268G>A	ENSP00000239440:p.Gln1344*		B4DIT1|D3DQE3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.Q1344*	ENST00000239440.4	37	c.4030	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	G	43	10.278728	0.99373	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	.	.	.	5.66	5.66	0.87406	.	0.055370	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.3334	0.94303	0.0:0.0:1.0:0.0	.	.	.	.	X	1175;1344;1006	.	ENSP00000239440:Q1344X	Q	-	1	0	ARAP3	141015452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.172000	0.94808	2.675000	0.91044	0.655000	0.94253	CAG	ARAP3	-	NULL		0.602	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141035268	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	141035268	G	A	141035268	4	1	56	1	0	0	0	0	0	1	0	0	840	1299	45	1	616	1	ARAP3	5	141035268	Nonsense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	868196	141035268	39879992	43	7590										
DPYSL3	1809	genome.wustl.edu	37	chr5	146795360	146795360	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agggcatagtcacagcaactCttcccatcagcccactctct	6	16	4	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:146795360C>G	ENST00000398514.3	-	4	761	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DPYSL3_ENST00000343218.5_Missense_Mutation_p.K244N|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	130					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCAACTCTTCCCATCAG	0.542																																																	0													245	247	247					5																	146795360		2137	4239	6376	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.390G>C	5.37:g.146795360C>G	ENSP00000381526:p.Lys130Asn		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.K130N	ENST00000398514.3	37	c.390	CCDS43381.1	5	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544186	0.86022	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.90563	-2.69;-2.69	6.03	6.03	0.97812	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.096550	0.64402	D	0.000001	D	0.93989	0.8075	M	0.69823	2.125	0.80722	D	1	D;P	0.56035	0.974;0.794	P;P	0.62184	0.899;0.474	D	0.93980	0.7257	10	0.87932	D	0	-7.8819	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	244;130	B3SXQ8;Q14195	.;DPYL3_HUMAN	N	130;244	ENSP00000381526:K130N;ENSP00000343690:K244N	ENSP00000343690:K244N	K	-	3	2	DPYSL3	146775553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.021000	0.30040	2.861000	0.98227	0.655000	0.94253	AAG	DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.542	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	C	NM_001387		146795360	-1	no_errors	ENST00000398514	ensembl	human	known	70_37	missense	SNP	1.000	G	G	146795360	C	G	146795360	3	3	56	1	0	0	0	0	1	0	0	0	4758	912	32	1	1366	1	DPYSL3	5	146795360	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	5760092	146795360	34119900	44	7591										
GEMIN5	25929	genome.wustl.edu	37	chr5	154278076	154278076	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gaagcagctcttgggcacatCtgagagccagggaagcagac	14	10	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:154278076C>G	ENST00000285873.7	-	23	3344	c.3269G>C	c.(3268-3270)aGa>aCa	p.R1090T		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1090					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGGGCACATCTGAGAGCCAG	0.532																																																	0													103	100	101					5																	154278076		2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3269G>C	5.37:g.154278076C>G	ENSP00000285873:p.Arg1090Thr		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R1090T	ENST00000285873.7	37	c.3269	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994485	0.93167	.	.	ENSG00000082516	ENST00000285873	T	0.74737	-0.87	5.63	5.63	0.86233	.	0.123763	0.53938	D	0.000049	D	0.83193	0.5201	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.59357	0.985;0.985	P;P	0.54590	0.756;0.756	D	0.84887	0.0834	10	0.87932	D	0	-5.4676	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1089;1090	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	T	1090	ENSP00000285873:R1090T	ENSP00000285873:R1090T	R	-	2	0	GEMIN5	154258269	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.911000	0.75746	2.652000	0.90054	0.655000	0.94253	AGA	GEMIN5	-	NULL		0.532	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	C			154278076	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154278076	C	G	154278076	3	3	56	1	0	0	0	0	1	0	0	0	6350	913	32	1	1281	1	GEMIN5	5	154278076	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	7482716	154278076	26637184	45	7592										
ODZ2	57451	genome.wustl.edu	37	chr5	167626875	167626875	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgtttcctctccaggttcttCatgaagaaatcgagctccct	7	12	3	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr5:167626875C>T	ENST00000518659.1	+	17	3208	c.3169C>T	c.(3169-3171)Cat>Tat	p.H1057Y	TENM2_ENST00000520394.1_Missense_Mutation_p.H825Y|TENM2_ENST00000545108.1_Missense_Mutation_p.H1057Y|TENM2_ENST00000519204.1_Missense_Mutation_p.H936Y|TENM2_ENST00000403607.2_Missense_Mutation_p.H881Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1057					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCAGGTTCTTCATGAAGAAAT	0.488																																																	0													163	157	159					5																	167626875		1931	4150	6081	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3169C>T	5.37:g.167626875C>T	ENSP00000429430:p.His1057Tyr		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.H1057Y	ENST00000518659.1	37	c.3169		5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158291	0.78114	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89552	-2.07;-2.05;-2.17;-2.51;-2.53	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93475	0.7918	M	0.67953	2.075	0.58432	D	0.999998	D;D;D	0.65815	0.995;0.991;0.962	D;P;D	0.66716	0.938;0.869;0.946	D	0.93421	0.6777	10	0.49607	T	0.09	.	18.4354	0.90643	0.0:1.0:0.0:0.0	.	1057;1057;825	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	1057;1057;936;825;881	ENSP00000429430:H1057Y;ENSP00000438635:H1057Y;ENSP00000428964:H936Y;ENSP00000427874:H825Y;ENSP00000384905:H881Y	ENSP00000384905:H881Y	H	+	1	0	ODZ2	167559453	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.818000	0.86416	2.338000	0.79540	0.561000	0.74099	CAT	TENM2	-	superfamily_ConA-like_lec_gl_sf		0.488	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167626875	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167626875	C	T	167626875	3	4	56	1	0	0	0	0	1	0	0	0	10859	826	29	1	3208	1	ODZ2	5	167626875	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	13348799	167626875	13288385	46	7593										
SIRT5	23408	genome.wustl.edu	37	chr6	13595753	13595753	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cctcttgtggagttgtggctGagaattacaagagtccaatt	11	7	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr6:13595753G>C	ENST00000606117.1	+	6	816	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	SIRT5_ENST00000359782.3_Missense_Mutation_p.E174Q|SIRT5_ENST00000397350.2_Missense_Mutation_p.E66Q|SIRT5_ENST00000379262.4_Missense_Mutation_p.E174Q	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGTTGTGGCTGAGAATTACAA	0.348																																																	0													183	179	180					6																	13595753		2203	4300	6503	SO:0001583	missense	23408			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.520G>C	6.37:g.13595753G>C	ENSP00000476228:p.Glu174Gln			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.E174Q	ENST00000606117.1	37	c.520	CCDS4526.1	6	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579846	0.28180	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.78	4.91	0.64330	.	0.318213	0.36703	N	0.002455	T	0.17109	0.0411	L	0.33710	1.025	0.38443	D	0.946767	B;B;B	0.18461	0.003;0.003;0.028	B;B;B	0.14578	0.006;0.011;0.01	T	0.05209	-1.0899	10	0.20046	T	0.44	-47.6268	15.1197	0.72432	0.0683:0.0:0.9317:0.0	.	174;174;174	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	Q	174;174;66;174	ENSP00000352830:E174Q;ENSP00000368564:E174Q;ENSP00000380509:E66Q;ENSP00000368552:E174Q	ENSP00000352830:E174Q	E	+	1	0	SIRT5	13703732	0.964000	0.33143	0.913000	0.36048	0.930000	0.56654	2.889000	0.48601	1.451000	0.47736	0.585000	0.79938	GAG	SIRT5	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.348	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT5	HGNC	protein_coding	OTTHUMT00000039908.2	G			13595753	1	no_errors	ENST00000379250	ensembl	human	known	70_37	missense	SNP	0.988	C	C	13595753	G	C	13595753	3	2	56	1	0	0	0	0	1	0	0	0	14371	1291	45	1	534	1	SIRT5	6	13595753	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		13595753	157519314	47	7594										
MICA	100507436	genome.wustl.edu	37	chr6	31378883	31378883	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	caggagattagggtctgtgaGatccatgaagacaacagcac	12	8	1	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr6:31378883G>C	ENST00000449934.2	+	3	414	c.360G>C	c.(358-360)gaG>gaC	p.E120D	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGGTCTGTGAGATCCATGAAG	0.552																																																	0													32	32	32					6																	31378883		692	1591	2283	SO:0001583	missense	100507436			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.360G>C	6.37:g.31378883G>C	ENSP00000413079:p.Glu120Asp			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.E120D	ENST00000449934.2	37	c.360	CCDS56412.1	6	.	.	.	.	.	.	.	.	.	.	-	8.668	0.902084	0.17760	.	.	ENSG00000204520	ENST00000364810;ENST00000449934	T	0.00664	5.92	1.94	-0.128	0.13506	.	0.885835	0.09320	N	0.818329	T	0.00412	0.0013	L	0.35854	1.095	0.09310	N	1	D	0.61080	0.989	P	0.60068	0.868	T	0.34950	-0.9808	10	0.02654	T	1	.	3.6867	0.08331	0.1658:0.0:0.5893:0.2449	.	120	Q96QC4	.	D	120	ENSP00000413079:E120D	ENSP00000365394:E120D	E	+	3	2	MICA	31486862	0.163000	0.22920	0.019000	0.16419	0.039000	0.13416	-0.221000	0.09202	0.158000	0.19367	0.306000	0.20318	GAG	MICA	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.552	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7	G	NM_001177519		31378883	1	no_errors	ENST00000364810	ensembl	human	known	70_37	missense	SNP	0.044	C	C	31378883	G	C	31378883	3	2	56	1	0	0	0	0	1	0	0	0	9591	933	33	1	370	1	MICA	6	31378883	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	17783130	31378883	139736184	48	7595										
TAP2	6891	genome.wustl.edu	37	chr6	32805352	32805352	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cacatgaagaagatggcactGgcaaaggcatgggggtcaaa	14	7	1	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr6:32805352G>C	ENST00000452392.2	-	3	743	c.570C>G	c.(568-570)gcC>gcG	p.A190A	TAP2_ENST00000374899.4_Silent_p.A190A|TAP2_ENST00000374897.2_Silent_p.A190A			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGATGGCACTGGCAAAGGCAT	0.488																																																	0													94	81	85					6																	32805352		2203	4300	6503	SO:0001819	synonymous_variant	6891			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.570C>G	6.37:g.32805352G>C			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.A190	ENST00000452392.2	37	c.570		6																																																																																			TAP2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2		0.488	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	G	NM_000544		32805352	-1	no_errors	ENST00000374897	ensembl	human	known	70_37	silent	SNP	0.639	C	C	32805352	G	C	32805352	2	2	56	1	0	0	0	0	0	0	0	1	15581	1335	47	4		4	TAP2	6	32805352	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	1426469	32805352	138309715	49	7596										
SLC35F1	222553	genome.wustl.edu	37	chr6	118606347	118606347	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tctctttactcttcccccagGactgctctacgttggcttta	6	14	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr6:118606347G>A	ENST00000360388.4	+	7	1049	c.848G>A	c.(847-849)gGa>gAa	p.G283E		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	283					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CTTCCCCCAGGACTGCTCTAC	0.522											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													185	188	187					6																	118606347		2203	4300	6503	SO:0001630	splice_region_variant	222553			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.848-1G>A	6.37:g.118606347G>A		1489	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_DMT	p.G283E	ENST00000360388.4	37	c.848	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850052	0.71603	.	.	ENSG00000196376	ENST00000360388	.	.	.	4.82	4.82	0.62117	.	0.118100	0.56097	D	0.000029	T	0.73760	0.3628	M	0.69523	2.12	0.58432	D	0.999997	D	0.63880	0.993	D	0.70487	0.969	T	0.72697	-0.4215	8	.	.	.	.	18.4576	0.90727	0.0:0.0:1.0:0.0	.	283	Q5T1Q4	S35F1_HUMAN	E	283	.	.	G	+	2	0	SLC35F1	118713040	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.189000	0.65098	2.667000	0.90743	0.655000	0.94253	GGA	SLC35F1	-	pfam_DUF914_euk,pfam_DMT		0.522	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	G	XM_167044	Missense_Mutation	118606347	1	no_errors	ENST00000360388	ensembl	human	known	70_37	missense	SNP	0.998	A	A	118606347	G	A	118606347	5	1	56	1	0	0	0	0	0	0	1	0	14618	1188	41	1	874	1	SLC35F1	6	118606347	Splice_Site	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	85800995	118606347	52508720	50	7597										
PNLDC1	154197	genome.wustl.edu	37	chr6	160222178	160222178	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccatcggagtggtatctaaaGacccgtcagagtgttcagca	11	10	3	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr6:160222178G>C	ENST00000610273.1	+	3	306	c.135G>C	c.(133-135)aaG>aaC	p.K45N	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.K56N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	45						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTATCTAAAGACCCGTCAGA	0.433																																																	0													234	218	224					6																	160222178		2203	4300	6503	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.135G>C	6.37:g.160222178G>C	ENSP00000476448:p.Lys45Asn		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.K45N	ENST00000610273.1	37	c.135	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450557	0.63290	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.23950	1.88;1.88	5.3	5.3	0.74995	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000006	T	0.36936	0.0985	M	0.69358	2.11	0.36411	D	0.863727	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	T	0.18085	-1.0348	10	0.41790	T	0.15	.	11.6481	0.51273	0.0813:0.0:0.9187:0.0	.	56;45	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	N	45;56	ENSP00000275275:K45N;ENSP00000376007:K56N	ENSP00000275275:K45N	K	+	3	2	PNLDC1	160142168	1.000000	0.71417	0.973000	0.42090	0.661000	0.39034	2.912000	0.48782	2.495000	0.84180	0.650000	0.86243	AAG	PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.433	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		G	NM_173516		160222178	1	no_errors	ENST00000275275	ensembl	human	known	70_37	missense	SNP	0.994	C	C	160222178	G	C	160222178	3	2	56	1	0	0	0	0	1	0	0	0	12172	933	33	1	141	1	PNLDC1	6	160222178	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	41615831	160222178	10892889	51	7598										
SKAP2	8935	genome.wustl.edu	37	chr7	26883654	26883654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gaaaatgtcacataccatcaGagggggcttcatcgtcttta	9	9	4	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:26883654G>A	ENST00000345317.2	-	4	615	c.302C>T	c.(301-303)tCt>tTt	p.S101F	SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	101					B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CATACCATCAGAGGGGGCTTC	0.423																																																	0													193	190	191					7																	26883654		2203	4300	6503	SO:0001583	missense	8935				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.302C>T	7.37:g.26883654G>A	ENSP00000005587:p.Ser101Phe		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.S101F	ENST00000345317.2	37	c.302	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941416	0.34283	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.13657	2.57;2.57	5.57	5.57	0.84162	.	0.394746	0.28572	N	0.014880	T	0.09379	0.0231	N	0.22421	0.69	0.80722	D	1	P;B	0.35383	0.498;0.121	B;B	0.27500	0.08;0.07	T	0.13282	-1.0515	10	0.49607	T	0.09	-4.8231	13.0875	0.59149	0.0:0.0:0.7194:0.2806	.	86;101	B7Z5N4;O75563	.;SKAP2_HUMAN	F	101;86;86	ENSP00000005587:S101F;ENSP00000408163:S86F	ENSP00000005587:S101F	S	-	2	0	SKAP2	26850179	1.000000	0.71417	0.989000	0.46669	0.379000	0.30106	1.600000	0.36762	2.618000	0.88619	0.585000	0.79938	TCT	SKAP2	-	NULL		0.423	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	G			26883654	-1	no_errors	ENST00000345317	ensembl	human	known	70_37	missense	SNP	0.996	A	A	26883654	G	A	26883654	3	1	56	1	0	0	0	0	1	0	0	0	14386	942	33	1	813	1	SKAP2	7	26883654	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		26883654	132255009	52	7599										
PHTF2	57157	genome.wustl.edu	37	chr7	77538189	77538189	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtgattgggccgatatggctGatgctgctcctgggaactgt	15	8	0	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:77538189G>A	ENST00000248550.7	+	7	601	c.525G>A	c.(523-525)ctG>ctA	p.L175L	PHTF2_ENST00000416283.2_Silent_p.L141L|PHTF2_ENST00000424760.1_Silent_p.L137L|PHTF2_ENST00000422959.2_Silent_p.L141L|PHTF2_ENST00000275575.7_Silent_p.L137L|PHTF2_ENST00000415251.2_Silent_p.L137L|PHTF2_ENST00000307305.8_Silent_p.L137L|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000450574.1_Silent_p.L141L			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CGATATGGCTGATGCTGCTCC	0.438																																																	0													83	81	82					7																	77538189		1940	4144	6084	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.525G>A	7.37:g.77538189G>A			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	pfam_TF_homeodomain_male	p.L175	ENST00000248550.7	37	c.525		7																																																																																			PHTF2	-	pfam_TF_homeodomain_male		0.438	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	G	NM_020432		77538189	1	no_errors	ENST00000248550	ensembl	human	known	70_37	silent	SNP	0.996	A	A	77538189	G	A	77538189	2	1	56	1	0	0	0	0	0	0	0	1	11887	1277	45	1		1	PHTF2	7	77538189	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	50654535	77538189	81600474	53	7600										
C7orf63	79846	genome.wustl.edu	37	chr7	89936214	89936214	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgttaaactttgttataacaGattggagaaatatggaatga	9	2	0	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:89936214G>A	ENST00000389297.4	+	20	2516		c.e20-1		C7orf63_ENST00000316089.8_Splice_Site|C7orf63_ENST00000497910.1_Splice_Site	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN												breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTTATAACAGATTGGAGAAA	0.259																																																	0													22	20	21					7																	89936214		1762	4008	5770	SO:0001630	splice_region_variant	79846																														ENST00000389297.4:c.2266-1G>A	7.37:g.89936214G>A			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Splice_Site	SNP	-	e20-1	ENST00000389297.4	37	c.2266-1	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688734	0.68271	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7786	0.96409	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf63	89774150	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.159000	0.77483	2.681000	0.91329	0.591000	0.81541	.	C7orf63	-	-		0.259	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G		Intron	89936214	1	no_errors	ENST00000389297	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	89936214	G	A	89936214	5	1	56	1	0	0	0	0	0	0	1	0	2414	956	33	1	2343	1	C7orf63	7	89936214	Splice_Site	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	12398025	89936214	69202449	54	7601										
ZAN	7455	genome.wustl.edu	37	chr7	100389622	100389622	+	RNA	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aggaggagggacaaggggcgGagctgggcctccgcacgggc	21	10	0	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:100389622G>T	ENST00000348028.3	+	0	7728				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAAGGGGCGGAGCTGGGCCT	0.657																																																	0													21	26	24					7																	100389622		2042	4194	6236			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389622G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.E2521*	ENST00000348028.3	37	c.7561		7	.	.	.	.	.	.	.	.	.	.	g	46	12.088491	0.99635	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	3.12	-1.03	0.10102	.	2.325720	0.02103	N	0.054108	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	2.8247	0.05482	0.3643:0.0:0.4154:0.2203	.	.	.	.	X	2521	.	ENSP00000445091:E2521X	E	+	1	0	ZAN	100227558	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.773000	0.26661	-0.236000	0.09753	0.550000	0.68814	GAG	ZAN	-	NULL		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100389622	1	no_errors	ENST00000546292	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	100389622	G	T	100389622	1	4	56	0	1	0	0	0	0	0	0	0	17544	1175	41	3		3	ZAN	7	100389622	RNA	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	10453408	100389622	58749041	55	7602										
PLOD3	8985	genome.wustl.edu	37	chr7	100853820	100853820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cacccgcgctcaccttgtctCgaaagctcttacagaaggcc	8	16	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:100853820C>T	ENST00000223127.3	-	13	1891	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	498					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTTGTCTCGAAAGCTCTT	0.632																																																	0													96	78	85					7																	100853820		2203	4300	6503	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1493G>A	7.37:g.100853820C>T	ENSP00000223127:p.Arg498Gln		B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R498Q	ENST00000223127.3	37	c.1493	CCDS5715.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.949177|3.949177	0.73787|0.73787	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000454310|ENST00000223127	.|D	.|0.85773	.|-2.03	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.89931|0.89931	0.6858|0.6858	M|M	0.73962|0.73962	2.25|2.25	0.41527|0.41527	D|D	0.988433|0.988433	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.57425	.|0.722;0.82	D|D	0.91482|0.91482	0.5205|0.5205	5|10	.|0.66056	.|D	.|0.02	-22.253|-22.253	14.7466|14.7466	0.69494|0.69494	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|125;498	.|Q9UG85;O60568	.|.;PLOD3_HUMAN	K|Q	73|498	.|ENSP00000223127:R498Q	.|ENSP00000223127:R498Q	E|R	-|-	1|2	0|0	PLOD3|PLOD3	100640540|100640540	0.996000|0.996000	0.38824|0.38824	0.990000|0.990000	0.47175|0.47175	0.258000|0.258000	0.26162|0.26162	5.741000|5.741000	0.68638|0.68638	2.077000|2.077000	0.62373|0.62373	0.462000|0.462000	0.41574|0.41574	GAG|CGA	PLOD3	-	NULL		0.632	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	C			100853820	-1	no_errors	ENST00000223127	ensembl	human	known	70_37	missense	SNP	0.659	T	T	100853820	C	T	100853820	3	4	56	1	0	0	0	0	1	0	0	0	12127	884	31	1	751	1	PLOD3	7	100853820	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	464198	100853820	58284843	56	7603										
CDHR3	222256	genome.wustl.edu	37	chr7	105669022	105669022	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aagactgcagagagagacgtCgtggtggtgagtatgggcag	18	5	0	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:105669022C>T	ENST00000317716.9	+	17	2378	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Silent_p.V766V|CDHR3_ENST00000478080.1_Silent_p.V678V|CDHR3_ENST00000343407.5_Missense_Mutation_p.R269C	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	766					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGAGAGACGTCGTGGTGGTGA	0.567																																																	0													62	64	63					7																	105669022		1974	4152	6126	SO:0001819	synonymous_variant	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2298C>T	7.37:g.105669022C>T			Q8TCI7	Missense_Mutation	SNP	superfamily_Cadherin-like,pfscan_Cadherin	p.R269C	ENST00000317716.9	37	c.805	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558571	0.03967	.	.	ENSG00000128536	ENST00000343407;ENST00000466045	T;T	0.78481	-1.18;-0.56	6.08	-12.2	0.00006	.	.	.	.	.	T	0.66982	0.2845	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67772	-0.5584	8	0.87932	D	0	0.1504	13.8557	0.63524	0.063:0.2904:0.5625:0.0841	.	267	Q6ZTQ4-2	.	C	269;308	ENSP00000341510:R269C;ENSP00000419017:R308C	ENSP00000341510:R269C	R	+	1	0	CDHR3	105456258	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-7.252000	0.00040	-5.760000	0.00009	-2.640000	0.00151	CGT	CDHR3	-	NULL		0.567	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	C	NM_152750		105669022	1	no_errors	ENST00000343407	ensembl	human	known	70_37	missense	SNP	0.000	T	T	105669022	C	T	105669022	2	4	56	1	0	0	0	0	0	0	0	1	3125	871	31	1		1	CDHR3	7	105669022	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	4815202	105669022	53469641	57	7604										
LRRC4	64101	genome.wustl.edu	37	chr7	127669932	127669932	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gcattccgctcaatcaggctGacctgtgagttcatgaccca	9	13	3	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr7:127669932G>A	ENST00000249363.3	-	2	1019	c.762C>T	c.(760-762)gtC>gtT	p.V254V	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	254				QVSLI -> H (in Ref. 2; CAC82651). {ECO:0000305}.	postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CAATCAGGCTGACCTGTGAGT	0.542																																																	0													56	46	49					7																	127669932		2202	4299	6501	SO:0001819	synonymous_variant	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.762C>T	7.37:g.127669932G>A			A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V254	ENST00000249363.3	37	c.762	CCDS5799.1	7																																																																																			LRRC4	-	smart_Leu-rich_rpt_typical-subtyp		0.542	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	G	NM_022143		127669932	-1	no_errors	ENST00000249363	ensembl	human	known	70_37	silent	SNP	0.995	A	A	127669932	G	A	127669932	2	1	56	1	0	0	0	0	0	0	0	1	9020	1277	45	1		1	LRRC4	7	127669932	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	22000910	127669932	31468731	58	7605										
DLC1	10395	genome.wustl.edu	37	chr8	13356682	13356682	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gacttttgttttgatgttgtGaaaaaccactcttctccagg	8	8	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr8:13356682G>C	ENST00000276297.4	-	2	1308	c.899C>G	c.(898-900)tCa>tGa	p.S300*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.S300*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.S300*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	300					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGATGTTGTGAAAAACCACT	0.463																																																	0													196	183	187					8																	13356682		2203	4300	6503	SO:0001587	stop_gained	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.899C>G	8.37:g.13356682G>C	ENSP00000276297:p.Ser300*		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.S300*	ENST00000276297.4	37	c.899	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.598005	0.97692	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	4.97	3.18	0.36537	.	0.797453	0.10280	N	0.693614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.4785	0.50312	0.1484:0.0:0.8516:0.0	.	.	.	.	X	300	.	ENSP00000276297:S300X	S	-	2	0	DLC1	13401053	1.000000	0.71417	0.998000	0.56505	0.334000	0.28698	3.015000	0.49599	0.816000	0.34421	0.655000	0.94253	TCA	DLC1	-	NULL		0.463	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		13356682	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	nonsense	SNP	0.999	C	C	13356682	G	C	13356682	4	2	56	1	0	0	0	0	0	1	0	0	4560	1294	45	1	3840	1	DLC1	8	13356682	Nonsense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		13356682	133007340	59	7606										
ZFHX4	79776	genome.wustl.edu	37	chr8	77768238	77768238	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tccatcagagatcacattttCtccaaacagcacatttcaaa	3	12	4	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr8:77768238C>T	ENST00000521891.2	+	10	9529	c.9081C>T	c.(9079-9081)ttC>ttT	p.F3027F	ZFHX4_ENST00000050961.6_Silent_p.F2982F|ZFHX4_ENST00000455469.2_Silent_p.F2982F|ZFHX4_ENST00000518282.1_Silent_p.F3001F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2982					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCACATTTTCTCCAAACAGC	0.527										HNSCC(33;0.089)																																							0													62	61	62					8																	77768238		1958	4144	6102	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9081C>T	8.37:g.77768238C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F3027	ENST00000521891.2	37	c.9081	CCDS47878.2	8																																																																																			ZFHX4	-	smart_Znf_U1,smart_Znf_C2H2-like		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77768238	1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77768238	C	T	77768238	2	4	56	1	0	0	0	0	0	0	0	1	17665	912	32	1		1	ZFHX4	8	77768238	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	64411556	77768238	68595784	60	7607										
ZBTB10	65986	genome.wustl.edu	37	chr8	81399769	81399769	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cgctcgcgcggcccaagtctCtaatgcagaagctccaatgc	10	15	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr8:81399769C>G	ENST00000430430.1	+	2	1503	c.724C>G	c.(724-726)Cta>Gta	p.L242V	ZBTB10_ENST00000426744.2_Missense_Mutation_p.L242V|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.L242V	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCCAAGTCTCTAATGCAGAA	0.622																																																	0													29	32	31					8																	81399769		1997	4171	6168	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.724C>G	8.37:g.81399769C>G	ENSP00000387462:p.Leu242Val		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L242V	ENST00000430430.1	37	c.724	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521130	0.44866	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.11821	2.75;2.75;2.74	4.52	2.72	0.32119	.	0.000000	0.51477	D	0.000091	T	0.20007	0.0481	N	0.24115	0.695	0.39559	D	0.969095	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.66602	0.883;0.883;0.945	T	0.02081	-1.1217	10	0.87932	D	0	.	10.9107	0.47108	0.0:0.8448:0.0:0.1552	.	98;242;242	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	V	242;242;242;70	ENSP00000387462:L242V;ENSP00000412036:L242V;ENSP00000416134:L242V	ENSP00000416134:L242V	L	+	1	2	ZBTB10	81562324	1.000000	0.71417	0.939000	0.37840	0.162000	0.22319	2.190000	0.42630	0.514000	0.28300	-0.150000	0.13652	CTA	ZBTB10	-	NULL		0.622	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	C	NM_023929		81399769	1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81399769	C	G	81399769	3	3	56	1	0	0	0	0	1	0	0	0	17553	912	32	1	726	1	ZBTB10	8	81399769	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	3631531	81399769	64964253	61	7608										
VPS13B	157680	genome.wustl.edu	37	chr8	100523624	100523624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agagaaaagaaaatctcctgGtcagcccatgaggacccata	9	10	2	3	rs140797231		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr8:100523624G>T	ENST00000358544.2	+	29	4703	c.4592G>T	c.(4591-4593)gGt>gTt	p.G1531V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1506V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1531					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATCTCCTGGTCAGCCCATG	0.343																																					Colon(161;2205 2542 7338 31318)												0													48	46	47					8																	100523624		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4592G>T	8.37:g.100523624G>T	ENSP00000351346:p.Gly1531Val		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.G1531V	ENST00000358544.2	37	c.4592	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776360	0.70107	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.34;-0.35	5.36	5.36	0.76844	.	0.059044	0.64402	D	0.000003	T	0.75759	0.3893	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.989;0.996;0.999	P;D;D	0.66497	0.836;0.944;0.927	T	0.72060	-0.4404	10	0.32370	T	0.25	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	1530;1506;1531	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	V	1506;1531	ENSP00000349685:G1506V;ENSP00000351346:G1531V	ENSP00000349685:G1506V	G	+	2	0	VPS13B	100592800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.537000	0.98070	2.669000	0.90835	0.585000	0.79938	GGT	VPS13B	-	NULL		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100523624	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100523624	G	T	100523624	3	4	56	1	0	0	0	0	1	0	0	0	17221	1261	44	4	4896	4	VPS13B	8	100523624	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	19123855	100523624	45840398	62	7609										
SCRT1	83482	genome.wustl.edu	37	chr8	145556955	145556955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttgagataggacttgagcgcGaagctcttcttgcagcgctt	12	9	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr8:145556955G>C	ENST00000332135.4	-	2	1050	c.939C>G	c.(937-939)ttC>ttG	p.F313L		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	313					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ACTTGAGCGCGAAGCTCTTCT	0.657																																																	0													23	25	24					8																	145556955		2203	4295	6498	SO:0001583	missense	83482			BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"Zinc fingers, C2H2-type"	15950	protein-coding gene	gene with protein product		605858	"scratch (drosophila homolog) 1, zinc finger protein", "scratch homolog 1, zinc finger protein (Drosophila)"			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.939C>G	8.37:g.145556955G>C	ENSP00000331692:p.Phe313Leu		A8MX66|Q96C52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F313L	ENST00000332135.4	37	c.939	CCDS6421.1	8	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525837	0.44969	.	.	ENSG00000170616	ENST00000332135	D	0.83591	-1.74	2.55	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000006	D	0.88097	0.6345	M	0.74258	2.255	0.48830	D	0.999717	D	0.76494	0.999	D	0.78314	0.991	D	0.85766	0.1352	10	0.87932	D	0	-20.9211	7.1563	0.25639	0.1488:0.0:0.8512:0.0	.	313	Q9BWW7	SCRT1_HUMAN	L	313	ENSP00000331692:F313L	ENSP00000331692:F313L	F	-	3	2	SCRT1	145527763	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.136000	0.42121	0.262000	0.21774	-0.657000	0.03884	TTC	SCRT1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT1	HGNC	protein_coding	OTTHUMT00000382800.2	G	NM_031309		145556955	-1	no_errors	ENST00000332135	ensembl	human	known	70_37	missense	SNP	1.000	C	C	145556955	G	C	145556955	3	2	56	1	0	0	0	0	1	0	0	0	13971	1049	37	1	111	1	SCRT1	8	145556955	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	45033331	145556955	807067	63	7610										
NFX1	4799	genome.wustl.edu	37	chr9	33366761	33366761	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccgaagcgcaatgtggtggtCactgccatcaggtaggtcaa	13	10	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:33366761C>T	ENST00000379540.3	+	22	3236	c.3174C>T	c.(3172-3174)gtC>gtT	p.V1058V	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1058	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATGTGGTGGTCACTGCCATCA	0.532																																																	0													89	70	77					9																	33366761		2203	4300	6503	SO:0001819	synonymous_variant	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.3174C>T	9.37:g.33366761C>T			A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.V1058	ENST00000379540.3	37	c.3174	CCDS6538.1	9																																																																																			NFX1	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.532	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	C			33366761	1	no_errors	ENST00000379540	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33366761	C	T	33366761	2	4	56	1	0	0	0	0	0	0	0	1	10411	813	29	1		1	NFX1	9	33366761	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		33366761	107846670	64	7611										
ALDH1A1	216	genome.wustl.edu	37	chr9	75516138	75516138	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttttctttatgagttcttctGagagattttcactgtgactg	8	6	4	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:75516138G>C	ENST00000297785.3	-	13	1546	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	498					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GAGTTCTTCTGAGAGATTTTC	0.358																																																	0													130	123	126					9																	75516138		2202	4300	6502	SO:0001583	missense	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1492C>G	9.37:g.75516138G>C	ENSP00000297785:p.Gln498Glu		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.Q498E	ENST00000297785.3	37	c.1492	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644952	0.29246	.	.	ENSG00000165092	ENST00000297785	T	0.74421	-0.84	5.64	3.72	0.42706	Aldehyde/histidinol dehydrogenase (1);	0.171047	0.40908	D	0.000981	T	0.51500	0.1678	N	0.02247	-0.625	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43540	-0.9385	10	0.29301	T	0.29	.	17.4209	0.87515	0.0:0.2817:0.7182:0.0	.	498	P00352	AL1A1_HUMAN	E	498	ENSP00000297785:Q498E	ENSP00000297785:Q498E	Q	-	1	0	ALDH1A1	74705958	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.417000	0.34770	1.334000	0.45468	0.650000	0.86243	CAG	ALDH1A1	-	superfamily_Ald_DH/histidinol_DH		0.358	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	G			75516138	-1	no_errors	ENST00000297785	ensembl	human	known	70_37	missense	SNP	0.992	C	C	75516138	G	C	75516138	3	2	56	1	0	0	0	0	1	0	0	0	490	1299	45	1	17	1	ALDH1A1	9	75516138	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	42149377	75516138	65697293	65	7612										
SLC28A3	64078	genome.wustl.edu	37	chr9	86900261	86900261	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aattaaaatatttactcactGatatatattgctgcacaccg	4	8	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:86900261G>T	ENST00000376238.4	-	14	1695	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	SLC28A3_ENST00000537648.1_Splice_Site_p.S480*|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	549					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TTTACTCACTGATATATATTG	0.388																																					Ovarian(106;425 1539 34835 42413 43572)												0													69	70	70					9																	86900261		2203	4300	6503	SO:0001630	splice_region_variant	64078			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1647+1C>A	9.37:g.86900261G>T			A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.S549*	ENST00000376238.4	37	c.1646	CCDS6670.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978364	0.92982	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.74	5.74	0.90152	.	0.056707	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0915	16.522	0.84319	0.0:0.1305:0.8695:0.0	.	.	.	.	X	549;480	.	ENSP00000365413:S549X	S	-	2	0	SLC28A3	86090081	1.000000	0.71417	0.999000	0.59377	0.123000	0.20343	5.483000	0.66838	2.873000	0.98535	0.561000	0.74099	TCA	SLC28A3	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.388	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	G	NM_022127	Nonsense_Mutation	86900261	-1	no_errors	ENST00000376238	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	86900261	G	T	86900261	5	4	56	1	0	0	0	0	0	0	1	0	14563	1304	45	3	449	3	SLC28A3	9	86900261	Splice_Site	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	11384123	86900261	54313170	66	7613										
DAPK1	1612	genome.wustl.edu	37	chr9	90301515	90301515	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggctgcgagaacgtgagtgtGaggagccgcagcatgatgtt	17	7	0	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:90301515G>A	ENST00000408954.3	+	21	2609	c.2274G>A	c.(2272-2274)gtG>gtA	p.V758V	DAPK1_ENST00000472284.1_Silent_p.V758V|DAPK1_ENST00000491893.1_Silent_p.V758V|DAPK1_ENST00000358077.5_Silent_p.V758V|DAPK1_ENST00000469640.2_Silent_p.V758V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	758					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACGTGAGTGTGAGGAGCCGCA	0.592									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													68	80	76					9																	90301515		2129	4252	6381	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2274G>A	9.37:g.90301515G>A			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.V758	ENST00000408954.3	37	c.2274	CCDS43842.1	9																																																																																			DAPK1	-	NULL		0.592	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	G	NM_004938		90301515	1	no_errors	ENST00000469640	ensembl	human	known	70_37	silent	SNP	0.993	A	A	90301515	G	A	90301515	2	1	56	1	0	0	0	0	0	0	0	1	4240	1277	45	1		1	DAPK1	9	90301515	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	3401254	90301515	50911916	67	7614										
ROR2	4920	genome.wustl.edu	37	chr9	94519831	94519831	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tttactggctccagaaaattCagaaagtaacctgccaagga	8	9	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:94519831C>G	ENST00000375708.3	-	3	384	c.186G>C	c.(184-186)ctG>ctC	p.L62L	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	62	Ig-like C2-type.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGAAAATTCAGAAAGTAAC	0.542																																																	0													36	33	34					9																	94519831		2203	4300	6503	SO:0001819	synonymous_variant	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.186G>C	9.37:g.94519831C>G			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L62	ENST00000375708.3	37	c.186	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like		0.542	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94519831	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	silent	SNP	1.000	G	G	94519831	C	G	94519831	2	3	56	1	0	0	0	0	0	0	0	1	13557	813	29	1		1	ROR2	9	94519831	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	4218316	94519831	46693600	68	7615										
C9orf84	158401	genome.wustl.edu	37	chr9	114454375	114454375	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgtgttagacccaaagaaaaGacatctgactctgaatcact	7	9	3	5			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:114454375G>C	ENST00000318737.4	-	25	3818	c.3690C>G	c.(3688-3690)gtC>gtG	p.V1230V	C9orf84_ENST00000394779.3_Silent_p.V1191V|C9orf84_ENST00000374287.3_Silent_p.V1230V|C9orf84_ENST00000394777.4_Silent_p.V1156V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1230										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAAAGAAAAGACATCTGACT	0.363																																																	0													50	55	53					9																	114454375		2202	4300	6502	SO:0001819	synonymous_variant	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3690C>G	9.37:g.114454375G>C			A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.V1230	ENST00000318737.4	37	c.3690	CCDS6781.3	9																																																																																			C9orf84	-	NULL		0.363	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	G	NM_173521		114454375	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	silent	SNP	1.000	C	C	114454375	G	C	114454375	2	2	56	1	0	0	0	0	0	0	0	1	2505	929	33	1		1	C9orf84	9	114454375	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	19934544	114454375	26759056	69	7616										
METTL11A	28989	genome.wustl.edu	37	chr9	132395004	132395004	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgacgagcgaggtgatagaaGacgagaagcaattctattcc	12	7	1	5			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr9:132395004G>C	ENST00000372486.1	+	2	371	c.22G>C	c.(22-24)Gac>Cac	p.D8H	NTMT1_ENST00000459968.2_Missense_Mutation_p.D8H|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.D8H|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372481.3_Missense_Mutation_p.D8H|NTMT1_ENST00000372483.4_Missense_Mutation_p.D8H			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	8					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GGTGATAGAAGACGAGAAGCA	0.562																																																	0													163	125	138					9																	132395004		2203	4300	6503	SO:0001583	missense	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.22G>C	9.37:g.132395004G>C	ENSP00000361564:p.Asp8His		A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik	p.D8H	ENST00000372486.1	37	c.22	CCDS35160.1	9	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923819	0.73213	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.3	5.3	0.74995	.	0.122013	0.52532	D	0.000072	T	0.46870	0.1415	M	0.70108	2.13	0.58432	D	0.999997	D;P	0.59767	0.986;0.79	P;P	0.56163	0.793;0.572	T	0.46359	-0.9197	10	0.56958	D	0.05	-1.5562	11.9931	0.53186	0.0843:0.0:0.9157:0.0	.	8;8	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	H	8	ENSP00000361564:D8H;ENSP00000361561:D8H;ENSP00000361559:D8H;ENSP00000361558:D8H	ENSP00000361558:D8H	D	+	1	0	METTL11A	131434825	1.000000	0.71417	0.398000	0.26321	0.627000	0.37826	6.591000	0.74090	2.483000	0.83821	0.561000	0.74099	GAC	NTMT1	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik		0.562	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	G	NM_014064		132395004	1	no_errors	ENST00000372480	ensembl	human	known	70_37	missense	SNP	0.990	C	C	132395004	G	C	132395004	3	2	56	1	0	0	0	0	1	0	0	0	9518	942	33	1	24	1	METTL11A	9	132395004	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	17940629	132395004	8818427	70	7617										
LARP4B	23185	genome.wustl.edu	37	chr10	890928	890928	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cagccttacctagataagcaGaattccaatgtttttttaag	6	8	0	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:890928G>A	ENST00000316157.3	-	5	538	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	166	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAGATAAGCAGAATTCCAATG	0.353																																																	0													128	120	123					10																	890928		2203	4300	6503	SO:0001819	synonymous_variant	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.498C>T	10.37:g.890928G>A			A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.F166	ENST00000316157.3	37	c.498	CCDS31131.1	10																																																																																			LARP4B	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	G	NM_015155		890928	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	silent	SNP	1.000	A	A	890928	G	A	890928	2	1	56	1	0	0	0	0	0	0	0	1	8651	933	33	1		1	LARP4B	10	890928	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		890928	134643819	71	7618										
STAMBPL1	57559	genome.wustl.edu	37	chr10	90668531	90668531	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cctgaaaagcaggatattatGaaggtattgtgggttttctt	11	4	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:90668531G>C	ENST00000371926.3	+	4	1279	c.321G>C	c.(319-321)atG>atC	p.M107I	STAMBPL1_ENST00000371927.3_Missense_Mutation_p.M107I|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M107I	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	107						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGGATATTATGAAGGTATTGT	0.403																																																	0													164	147	153					10																	90668531		2203	4300	6503	SO:0001583	missense	57559			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.321G>C	10.37:g.90668531G>C	ENSP00000360994:p.Met107Ile		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.M107I	ENST00000371926.3	37	c.321	CCDS7391.1	10	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245169	0.22796	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.22336	1.98;1.96;1.98	5.86	2.98	0.34508	.	0.161948	0.64402	N	0.000002	T	0.09598	0.0236	N	0.16478	0.41	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.15052	0.012;0.002	T	0.22800	-1.0206	10	0.21014	T	0.42	-0.9507	2.195	0.03908	0.149:0.1309:0.4508:0.2693	.	107;107	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	I	107	ENSP00000360994:M107I;ENSP00000360995:M107I;ENSP00000360992:M107I	ENSP00000360992:M107I	M	+	3	0	STAMBPL1	90658511	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.459000	0.35234	0.376000	0.24707	-0.311000	0.09066	ATG	STAMBPL1	-	NULL		0.403	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1	G	NM_020799		90668531	1	no_errors	ENST00000371927	ensembl	human	known	70_37	missense	SNP	0.996	C	C	90668531	G	C	90668531	3	2	56	1	0	0	0	0	1	0	0	0	15281	1290	45	1	331	1	STAMBPL1	10	90668531	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	89777603	90668531	44866216	72	7619										
BTAF1	9044	genome.wustl.edu	37	chr10	93773678	93773678	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gttcttgctatggatgcgctGcaccgccaagtactaccgtt	10	12	1	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:93773678G>T	ENST00000265990.6	+	32	4784	c.4476G>T	c.(4474-4476)ctG>ctT	p.L1492L	BTAF1_ENST00000544642.1_Silent_p.L320L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1492					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGATGCGCTGCACCGCCAAG	0.328																																																	0													99	101	100					10																	93773678		2203	4300	6503	SO:0001819	synonymous_variant	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4476G>T	10.37:g.93773678G>T			B4E0W6|O43578	Silent	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1492	ENST00000265990.6	37	c.4476	CCDS7419.1	10																																																																																			BTAF1	-	pfam_SNF2_N		0.328	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	G	NM_003972		93773678	1	no_errors	ENST00000265990	ensembl	human	known	70_37	silent	SNP	0.907	T	T	93773678	G	T	93773678	2	4	56	1	0	0	0	0	0	0	0	1	1539	1306	46	4		4	BTAF1	10	93773678	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	3105147	93773678	41761069	73	7620										
CHUK	1147	genome.wustl.edu	37	chr10	101964375	101964375	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gctgagatcaaagtgttcttCatttttgttaagttagcatt	8	5	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:101964375C>G	ENST00000370397.7	-	13	1481	c.1395G>C	c.(1393-1395)atG>atC	p.M465I		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	465	Leucine-zipper.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAGTGTTCTTCATTTTTGTTA	0.323																																					Ovarian(159;52 1904 10536 35305 37148)												0													118	109	112					10																	101964375		2203	4300	6503	SO:0001583	missense	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1395G>C	10.37:g.101964375C>G	ENSP00000359424:p.Met465Ile		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M465I	ENST00000370397.7	37	c.1395	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710923	0.48517	.	.	ENSG00000213341	ENST00000370397	T	0.71698	-0.59	5.7	4.78	0.61160	.	0.175374	0.64402	D	0.000009	T	0.60907	0.2305	L	0.46157	1.445	0.38204	D	0.940276	P	0.35328	0.495	B	0.30716	0.119	T	0.61377	-0.7075	10	0.22109	T	0.4	-17.6727	13.7646	0.62988	0.155:0.845:0.0:0.0	.	465	O15111	IKKA_HUMAN	I	465	ENSP00000359424:M465I	ENSP00000359424:M465I	M	-	3	0	CHUK	101954365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.317000	0.51968	1.391000	0.46566	0.650000	0.86243	ATG	CHUK	-	NULL		0.323	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	C	NM_001278		101964375	-1	no_errors	ENST00000370397	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101964375	C	G	101964375	3	3	56	1	0	0	0	0	1	0	0	0	3421	826	29	1	878	1	CHUK	10	101964375	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	8190697	101964375	33570372	74	7621										
LDB1	8861	genome.wustl.edu	37	chr10	103870840	103870840	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccatacctctgtccagttctGaagccgtttgttaagctcaa	7	12	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:103870840G>A	ENST00000425280.1	-	4	577	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_Nonsense_Mutation_p.Q43*	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	79					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCCAGTTCTGAAGCCGTTTG	0.522																																																	0													146	149	148					10																	103870840		2203	4300	6503	SO:0001587	stop_gained	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.235C>T	10.37:g.103870840G>A	ENSP00000392466:p.Gln79*		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Nonsense_Mutation	SNP	NULL	p.Q79*	ENST00000425280.1	37	c.235	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.729291	0.98456	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.7951	20.0291	0.97531	0.0:0.0:1.0:0.0	.	.	.	.	X	43;79	.	ENSP00000354616:Q43X	Q	-	1	0	LDB1	103860830	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.247000	0.95444	2.838000	0.97847	0.561000	0.74099	CAG	LDB1	-	NULL		0.522	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		G	NM_001113407		103870840	-1	no_errors	ENST00000425280	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	103870840	G	A	103870840	4	1	56	1	0	0	0	0	0	1	0	0	8715	1299	45	1	1032	1	LDB1	10	103870840	Nonsense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	1906465	103870840	31663907	75	7622										
PDCD4	27250	genome.wustl.edu	37	chr10	112642770	112642770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aactttttcaggtggtgcagGaggcaaaggtgtctggggta	16	5	2	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:112642770G>C	ENST00000280154.7	+	4	630	c.356G>C	c.(355-357)gGa>gCa	p.G119A	PDCD4_ENST00000393104.2_Missense_Mutation_p.G108A	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	119					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGTGGTGCAGGAGGCAAAGGT	0.398																																					Ovarian(115;1498 1603 9363 40056 40885)												0													154	142	146					10																	112642770		2203	4300	6503	SO:0001583	missense	27250			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.356G>C	10.37:g.112642770G>C	ENSP00000280154:p.Gly119Ala		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.G119A	ENST00000280154.7	37	c.356	CCDS7567.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998177	0.93227	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.63255	0.25;0.27;-0.03	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.82075	0.4958	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.981;0.998;0.997	D	0.83738	0.0202	10	0.72032	D	0.01	-19.0005	19.8113	0.96547	0.0:0.0:1.0:0.0	.	105;119;108	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	A	119;108;105	ENSP00000280154:G119A;ENSP00000376816:G108A;ENSP00000394668:G105A	ENSP00000280154:G119A	G	+	2	0	PDCD4	112632760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.690000	0.91761	0.655000	0.94253	GGA	PDCD4	-	NULL		0.398	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	G	NM_014456		112642770	1	no_errors	ENST00000280154	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112642770	G	C	112642770	3	2	56	1	0	0	0	0	1	0	0	0	11645	1174	41	1	380	1	PDCD4	10	112642770	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	8771930	112642770	22891977	76	7623										
C10orf46	143384	genome.wustl.edu	37	chr10	120513962	120513962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggagctggcggtgggggcggGggccgccttggccacggcgg	24	11	0	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:120513962G>A	ENST00000369151.3	-	1	796	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	CACUL1_ENST00000340214.4_Missense_Mutation_p.P105S	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	105	Poly-Ala.				G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										GTGGGGGCGGGGGCCGCCTTG	0.657																																																	0													22	26	25					10																	120513962		1906	4092	5998	SO:0001583	missense	143384			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.313C>T	10.37:g.120513962G>A	ENSP00000358147:p.Pro105Ser		Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.P105S	ENST00000369151.3	37	c.313	CCDS41570.1	10	.	.	.	.	.	.	.	.	.	.	G	12.58	1.982069	0.34942	.	.	ENSG00000151893	ENST00000369151;ENST00000340214	.	.	.	4.71	2.71	0.32032	.	0.761502	0.11985	N	0.510417	T	0.24431	0.0592	N	0.19112	0.55	0.25565	N	0.986952	B	0.27823	0.19	B	0.23018	0.043	T	0.06643	-1.0815	8	.	.	.	-13.8253	8.4434	0.32828	0.0:0.2237:0.5519:0.2244	.	105	Q86Y37	CJ046_HUMAN	S	105	.	.	P	-	1	0	C10orf46	120503952	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.108000	0.31123	2.321000	0.78463	0.561000	0.74099	CCC	CACUL1	-	NULL		0.657	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	G	NM_153810		120513962	-1	no_errors	ENST00000369151	ensembl	human	known	70_37	missense	SNP	0.736	A	A	120513962	G	A	120513962	3	1	56	1	0	0	0	0	1	0	0	0	1608	1232	43	4	832	4	C10orf46	10	120513962	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	7871192	120513962	15020785	77	7624										
GPR123	84435	genome.wustl.edu	37	chr10	134941990	134941990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cacagcccgaggagcagcggCggctggcgacacccgagggc	17	15	0	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr10:134941990C>T	ENST00000392607.3	+	7	1094	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	GPR123_ENST00000392606.2_Missense_Mutation_p.R123W|GPR123_ENST00000607359.1_Missense_Mutation_p.R939W	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	220					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGAGCAGCGGCGGCTGGCGAC	0.711																																																	0													5	7	6					10																	134941990		2086	4105	6191	SO:0001583	missense	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.658C>T	10.37:g.134941990C>T	ENSP00000376384:p.Arg220Trp		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.R124W	ENST00000392607.3	37	c.370	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	.	15.03	2.712460	0.48517	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.42131	0.98	4.85	3.81	0.43845	GPCR, family 2-like (1);	0.237436	0.27922	N	0.017317	T	0.65565	0.2703	M	0.84683	2.71	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.70901	-0.4746	10	0.87932	D	0	-43.2234	11.643	0.51244	0.2158:0.7842:0.0:0.0	.	220;939	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	W	939;220;124	ENSP00000376384:R220W	ENSP00000357566:R939W	R	+	1	2	GPR123	134791980	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	1.053000	0.30442	2.419000	0.82065	0.491000	0.48974	CGG	GPR123	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.711	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	C			134941990	1	no_errors	ENST00000392606	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	134941990	C	T	134941990	3	4	56	1	0	0	0	0	1	0	0	0	6656	759	27	2	680	2	GPR123	10	134941990	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	14428028	134941990	592757	78	7625										
IGSF22	144110	genome.wustl.edu	37	chr11	18727641	18727641	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggcgtcacgaagcgcggcgcGtggcgccagtccttcttctc	14	15	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:18727641G>A	ENST00000280734.2	+	0	3595				IGSF22_ENST00000510673.1_5'UTR|RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000513874.1_Silent_p.H1211H	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AGCGCGGCGCGTGGCGCCAGT	0.716																																																	0													52	56	55					11																	18727641		692	1591	2283	SO:0001628	intergenic_variant	283284			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4			11.37:g.18727641G>A			Q96AJ0	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H1211	ENST00000280734.2	37	c.3633	CCDS7844.1	11																																																																																			IGSF22	-	NULL		0.716	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000387812.1	G	NM_153347		18727641	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	silent	SNP	0.038	A	A	18727641	G	A	18727641	1	1	56	0	1	0	0	0	0	0	0	0	7620	1136	40	2		2	IGSF22	11	18727641	IGR	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		18727641	116278875	79	7626										
PSMC3	5702	genome.wustl.edu	37	chr11	47447758	47447758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agctcgcccggtgcccacctCggcctcatcccacacggtcg	10	20	1	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:47447758C>T	ENST00000298852.3	-	1	230	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PSMC3_ENST00000530912.1_Missense_Mutation_p.E25K|PSMC3_ENST00000602866.1_Missense_Mutation_p.E9K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCCCACCTCGGCCTCATCC	0.647																																																	0													22	18	19					11																	47447758		2160	4237	6397	SO:0001583	missense	5702			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.73G>A	11.37:g.47447758C>T	ENSP00000298852:p.Glu25Lys		B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E25K	ENST00000298852.3	37	c.73	CCDS7935.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430056	0.83776	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000526993;ENST00000531653;ENST00000528362	D;D	0.95690	-3.51;-3.78	4.88	4.88	0.63580	.	2.454000	0.01258	N	0.009080	D	0.90978	0.7163	N	0.08118	0	0.58432	D	0.999997	B;B	0.15473	0.004;0.013	B;B	0.08055	0.001;0.003	T	0.59182	-0.7502	10	0.16896	T	0.51	-34.2341	16.0015	0.80297	0.0:1.0:0.0:0.0	.	25;25	E9PM69;P17980	.;PRS6A_HUMAN	K	25;25;9;9;9	ENSP00000298852:E25K;ENSP00000433097:E25K	ENSP00000298852:E25K	E	-	1	0	PSMC3	47404334	0.995000	0.38212	0.968000	0.41197	0.928000	0.56348	4.196000	0.58407	2.537000	0.85549	0.563000	0.77884	GAG	PSMC3	-	NULL		0.647	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMC3	HGNC	protein_coding	OTTHUMT00000395660.2	C	NM_002804		47447758	-1	no_errors	ENST00000298852	ensembl	human	known	70_37	missense	SNP	0.990	T	T	47447758	C	T	47447758	3	4	56	1	0	0	0	0	1	0	0	0	12714	893	31	1	1294	1	PSMC3	11	47447758	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	28720117	47447758	87558758	80	7627										
NUP160	23279	genome.wustl.edu	37	chr11	47858549	47858549	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	acgatctgaaggcgactggtCacccctaaaacataagaccc	8	13	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:47858549C>T	ENST00000378460.2	-	6	878	c.832G>A	c.(832-834)Gac>Aac	p.D278N	NUP160_ENST00000532747.1_Silent_p.*99*|NUP160_ENST00000530326.1_Missense_Mutation_p.D164N|NUP160_ENST00000528071.1_Missense_Mutation_p.D164N	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	278					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GGCGACTGGTCACCCCTAAAA	0.378																																																	0													136	117	124					11																	47858549		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.832G>A	11.37:g.47858549C>T	ENSP00000367721:p.Asp278Asn		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.D278N	ENST00000378460.2	37	c.832	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.328195	0.95733	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.44482	0.92;0.92;0.92	5.69	5.69	0.88448	.	0.179255	0.48286	D	0.000197	T	0.52125	0.1715	M	0.63428	1.95	0.80722	D	1	P	0.45283	0.855	P	0.49387	0.609	T	0.36792	-0.9733	10	0.16896	T	0.51	.	19.8113	0.96547	0.0:1.0:0.0:0.0	.	278	Q12769	NU160_HUMAN	N	278;28;164;164	ENSP00000367721:D278N;ENSP00000433590:D164N;ENSP00000432367:D164N	ENSP00000367721:D278N	D	-	1	0	NUP160	47815125	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	6.860000	0.75473	2.690000	0.91761	0.655000	0.94253	GAC	NUP160	-	pfam_Nucleoporin_Nup160		0.378	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	C	NM_015231		47858549	-1	no_errors	ENST00000378460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47858549	C	T	47858549	3	4	56	1	0	0	0	0	1	0	0	0	10781	826	29	1	3602	1	NUP160	11	47858549	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	410791	47858549	87147967	81	7628										
UBXN1	51035	genome.wustl.edu	37	chr11	62444225	62444225	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tctttgcatccctccttttcCtaggcatgcctccctactcc	4	18	1	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:62444225C>T	ENST00000301935.5	-	8	1011				UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Missense_Mutation_p.G302R			Q04323	UBXN1_HUMAN	UBX domain protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						CCTCCTTTTCCTAGGCATGCC	0.512																																																	0													154	148	150					11																	62444225		2202	4299	6501	SO:0001627	intron_variant	51035				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.844+59G>A	11.37:g.62444225C>T			Q9BV93|Q9BVV5	Missense_Mutation	SNP	pfam_UBX,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX	p.G302R	ENST00000301935.5	37	c.904		11	.	.	.	.	.	.	.	.	.	.	C	4.906	0.168292	0.09339	.	.	ENSG00000162191	ENST00000294119	T	0.27256	1.68	5.24	1.96	0.26148	.	1.876030	0.02425	N	0.082999	T	0.20700	0.0498	.	.	.	0.27880	N	0.939708	B	0.02656	0.0	B	0.09377	0.004	T	0.27157	-1.0082	9	0.87932	D	0	-4.1276	3.7957	0.08738	0.4213:0.4433:0.0:0.1354	.	302	Q04323-2	.	R	302	ENSP00000294119:G302R	ENSP00000294119:G302R	G	-	1	0	UBXN1	62200801	0.018000	0.18449	0.008000	0.14137	0.062000	0.15995	1.673000	0.37534	0.262000	0.21774	0.655000	0.94253	GGA	UBXN1	-	NULL		0.512	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	HGNC	protein_coding	OTTHUMT00000395153.1	C	NM_015853		62444225	-1	no_errors	ENST00000294119	ensembl	human	known	70_37	missense	SNP	0.032	T	T	62444225	C	T	62444225	1	4	56	0	1	0	0	0	0	0	0	0	16942	690	24	4		4	UBXN1	11	62444225	Intron	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	14585676	62444225	72562291	82	7629										
ESRRA	2101	genome.wustl.edu	37	chr11	64082560	64082560	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gctgggtgtggcccagcgctCactgccactgcaggatgagc	15	13	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:64082560C>G	ENST00000405666.1	+	6	1064	c.830C>G	c.(829-831)tCa>tGa	p.S277*	ESRRA_ENST00000000442.6_Nonsense_Mutation_p.S277*|PRDX5_ENST00000265462.4_5'Flank|ESRRA_ENST00000406310.1_Nonsense_Mutation_p.S276*	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	277	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCCCAGCGCTCACTGCCACTG	0.647																																																	0													19	21	21					11																	64082560		2124	4235	6359	SO:0001587	stop_gained	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.830C>G	11.37:g.64082560C>G	ENSP00000384851:p.Ser277*		Q14514	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S277*	ENST00000405666.1	37	c.830	CCDS41667.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103783|3.103783	0.56291|0.56291	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000545035|ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	.|.	.|.	.|.	4.14|4.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.69762|.	0.3147|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79485|.	-0.1784|.	3|.	.|0.87932	.|D	.|0	.|.	14.3272|14.3272	0.66528|0.66528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	58|276;277;134;277	.|.	.|ENSP00000000442:S277X	H|S	+|+	1|2	0|0	ESRRA|ESRRA	63839136|63839136	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	7.606000|7.606000	0.82863|0.82863	2.309000|2.309000	0.77851|0.77851	0.462000|0.462000	0.41574|0.41574	CAC|TCA	ESRRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.647	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ESRRA	HGNC	protein_coding	OTTHUMT00000319304.1	C	NM_004451		64082560	1	no_errors	ENST00000000442	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	64082560	C	G	64082560	4	3	56	1	0	0	0	0	0	1	0	0	5272	838	29	1	848	1	ESRRA	11	64082560	Nonsense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1638335	64082560	70923956	83	7630										
C11orf82	220042	genome.wustl.edu	37	chr11	82644119	82644119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	taacaaatatttgaatggatGtggagaaatatcagtttcag	9	3	2	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:82644119G>T	ENST00000533655.1	+	6	1951	c.1739G>T	c.(1738-1740)tGt>tTt	p.C580F	C11orf82_ENST00000329143.3_Missense_Mutation_p.C279F|C11orf82_ENST00000430323.2_Missense_Mutation_p.C580F|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		580					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGAATGGATGTGGAGAAATA	0.308																																																	0													51	54	53					11																	82644119		2203	4300	6503	SO:0001583	missense	220042																														ENST00000533655.1:c.1739G>T	11.37:g.82644119G>T	ENSP00000435421:p.Cys580Phe		Q96LK6|Q9H856	Missense_Mutation	SNP	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	p.C580F	ENST00000533655.1	37	c.1739	CCDS8263.1	11	.	.	.	.	.	.	.	.	.	.	G	6.521	0.464342	0.12402	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.27402	2.0;2.0;1.67	5.62	1.67	0.24075	.	0.562862	0.18444	N	0.141055	T	0.24275	0.0588	L	0.59436	1.845	0.20307	N	0.999911	P	0.39576	0.679	B	0.35813	0.211	T	0.09952	-1.0651	9	.	.	.	.	5.9554	0.19271	0.221:0.1379:0.6411:0.0	.	580	Q8IXT1	NOXIN_HUMAN	F	580;580;279	ENSP00000414687:C580F;ENSP00000435421:C580F;ENSP00000329930:C279F	.	C	+	2	0	C11orf82	82321767	0.001000	0.12720	0.018000	0.16275	0.002000	0.02628	-0.153000	0.10144	0.333000	0.23563	-0.176000	0.13171	TGT	C11orf82	-	NULL		0.308	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	G			82644119	1	no_errors	ENST00000430323	ensembl	human	known	70_37	missense	SNP	0.283	T	T	82644119	G	T	82644119	3	4	56	1	0	0	0	0	1	0	0	0	1669	1377	48	4	1753	4	C11orf82	11	82644119	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	18561559	82644119	52362397	84	7631										
MMP1	4312	genome.wustl.edu	37	chr11	102667841	102667841	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccagagttggaaggctttctCaatggcatggtccacatctg	11	10	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:102667841C>G	ENST00000315274.6	-	3	470	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	135	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E135Q(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AAGGCTTTCTCAATGGCATGG	0.433																																																	1	Substitution - Missense(1)	lung(1)											138	132	134					11																	102667841		2203	4299	6502	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.403G>C	11.37:g.102667841C>G	ENSP00000322788:p.Glu135Gln		P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.E135Q	ENST00000315274.6	37	c.403	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	c	8.031	0.761697	0.15914	.	.	ENSG00000196611	ENST00000315274	T	0.21361	2.01	5.87	-1.44	0.08856	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.913740	0.01999	N	0.046147	T	0.10680	0.0261	N	0.13299	0.325	0.09310	N	1	B	0.24823	0.112	B	0.23018	0.043	T	0.14062	-1.0486	10	0.13853	T	0.58	.	2.9777	0.05943	0.1066:0.462:0.2086:0.2227	.	135	P03956	MMP1_HUMAN	Q	135	ENSP00000322788:E135Q	ENSP00000322788:E135Q	E	-	1	0	MMP1	102173051	0.000000	0.05858	0.016000	0.15963	0.936000	0.57629	-2.184000	0.01254	-0.069000	0.12931	0.655000	0.94253	GAG	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	C	NM_002421		102667841	-1	no_errors	ENST00000315274	ensembl	human	known	70_37	missense	SNP	0.000	G	G	102667841	C	G	102667841	3	3	56	1	0	0	0	0	1	0	0	0	9671	835	29	1	1038	1	MMP1	11	102667841	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	20023722	102667841	32338675	85	7632										
HTR3B	9177	genome.wustl.edu	37	chr11	113815388	113815388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccatgatgagcagcgtggtgGacaggagcagcccttcttgt	14	10	1	2	rs199833563		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:113815388G>A	ENST00000260191.2	+	8	1258	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	HTR3B_ENST00000537778.1_Missense_Mutation_p.G323E	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	334					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CAGCGTGGTGGACAGGAGCAG	0.552													G|||	0	0	0	0	5008	,	,		19000	0		0	False		,,,				2504	0																0													223	179	194					11																	113815388		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1001G>A	11.37:g.113815388G>A	ENSP00000260191:p.Gly334Glu		B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.G334E	ENST00000260191.2	37	c.1001	CCDS8364.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.216	-0.379475	0.05000	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.83335	-1.71;-1.71	5.11	2.12	0.27331	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.518379	0.17624	N	0.167628	T	0.72763	0.3501	L	0.38531	1.155	0.09310	N	0.999999	B;B	0.14012	0.004;0.009	B;B	0.17433	0.013;0.018	T	0.60434	-0.7264	10	0.44086	T	0.13	-1.0328	7.3196	0.26519	0.2943:0.0:0.7057:0.0	.	323;334	O95264-2;O95264	.;5HT3B_HUMAN	E	334;323	ENSP00000260191:G334E;ENSP00000443118:G323E	ENSP00000260191:G334E	G	+	2	0	HTR3B	113320598	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.001000	0.13038	0.155000	0.19261	0.655000	0.94253	GGA	HTR3B	-	superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.552	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113815388	1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	0.179	A	A	113815388	G	A	113815388	3	1	56	1	0	0	0	0	1	0	0	0	7465	1174	41	1	1031	1	HTR3B	11	113815388	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	11147547	113815388	21191128	86	7633										
NLRX1	79671	genome.wustl.edu	37	chr11	119050625	119050625	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gttcatgggggggcttctctCtgcccacaaccgagctgtgc	13	13	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr11:119050625C>G	ENST00000409109.1	+	7	2482	c.1895C>G	c.(1894-1896)tCt>tGt	p.S632C	NLRX1_ENST00000409991.1_Missense_Mutation_p.S632C|NLRX1_ENST00000409265.4_Missense_Mutation_p.S632C|NLRX1_ENST00000292199.2_Missense_Mutation_p.S632C|NLRX1_ENST00000525863.1_Missense_Mutation_p.S632C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	632	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCTTCTCTCTGCCCACAAC	0.622																																																	0													48	52	50					11																	119050625		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1895C>G	11.37:g.119050625C>G	ENSP00000387334:p.Ser632Cys		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.S632C	ENST00000409109.1	37	c.1895	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832712	0.71258	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.72725	-0.57;-0.57;-0.68;-0.57;-0.68	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.77391	0.4123	L	0.27053	0.805	0.42026	D	0.991009	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	T	0.79713	-0.1688	10	0.56958	D	0.05	.	19.0214	0.92917	0.0:1.0:0.0:0.0	.	632;632	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	C	632	ENSP00000386851:S632C;ENSP00000292199:S632C;ENSP00000386858:S632C;ENSP00000387334:S632C;ENSP00000433442:S632C	ENSP00000292199:S632C	S	+	2	0	NLRX1	118555835	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	5.747000	0.68689	2.503000	0.84419	0.561000	0.74099	TCT	NLRX1	-	NULL		0.622	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119050625	1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119050625	C	G	119050625	3	3	56	1	0	0	0	0	1	0	0	0	10509	913	32	1	1917	1	NLRX1	11	119050625	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	5235237	119050625	15955891	87	7634										
LRRK2	120892	genome.wustl.edu	37	chr12	40717102	40717102	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttgaacaagctccagagtttCtcctaggtaattctttttgt	7	8	2	2	rs71653641		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr12:40717102C>T	ENST00000298910.7	+	38	5708	c.5650C>T	c.(5650-5652)Ctc>Ttc	p.L1884F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1884	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCCAGAGTTTCTCCTAGGTAA	0.294																																																	0													49	52	51					12																	40717102		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5650C>T	12.37:g.40717102C>T	ENSP00000298910:p.Leu1884Phe		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.L1884F	ENST00000298910.7	37	c.5650	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998851	0.74818	.	.	ENSG00000188906	ENST00000298910	D	0.94000	-3.33	6.16	6.16	0.99307	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.318638	0.33515	N	0.004832	D	0.94883	0.8346	L	0.55213	1.73	0.44214	D	0.997041	P;P	0.46859	0.766;0.885	P;P	0.53722	0.677;0.733	D	0.93399	0.6758	10	0.42905	T	0.14	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1884;1884	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	1884	ENSP00000298910:L1884F	ENSP00000298910:L1884F	L	+	1	0	LRRK2	39003369	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.577000	0.46042	2.937000	0.99478	0.650000	0.86243	CTC	LRRK2	-	superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	C	XM_058513		40717102	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40717102	C	T	40717102	3	4	56	1	0	0	0	0	1	0	0	0	9056	913	32	1	5800	1	LRRK2	12	40717102	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		40717102	93134793	88	7635										
TROAP	10024	genome.wustl.edu	37	chr12	49719924	49719924	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttccaggagctaagaagggaGacagctggcagcagccggtg	16	9	0	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr12:49719924G>C	ENST00000257909.3	+	6	775	c.699G>C	c.(697-699)gaG>gaC	p.E233D	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Missense_Mutation_p.E233D|TROAP_ENST00000547923.1_5'Flank	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	233					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TAAGAAGGGAGACAGCTGGCA	0.532																																																	0													95	98	97					12																	49719924		2203	4300	6503	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.699G>C	12.37:g.49719924G>C	ENSP00000257909:p.Glu233Asp		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.E233D	ENST00000257909.3	37	c.699	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734636	0.30774	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	4.13	3.22	0.36961	.	0.611313	0.15322	N	0.268474	T	0.42988	0.1227	L	0.31926	0.97	0.80722	D	1	P;B	0.40476	0.718;0.021	B;B	0.41764	0.366;0.022	T	0.28235	-1.0050	9	0.39692	T	0.17	-0.2608	9.9847	0.41835	0.0:0.2058:0.7942:0.0	.	233;233	F8W130;Q12815	.;TROAP_HUMAN	D	233;116;233;233	.	ENSP00000257909:E233D	E	+	3	2	TROAP	48006191	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.618000	0.36954	1.321000	0.45227	-0.175000	0.13238	GAG	TROAP	-	NULL		0.532	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	G	NM_005480		49719924	1	no_errors	ENST00000257909	ensembl	human	known	70_37	missense	SNP	0.999	C	C	49719924	G	C	49719924	3	2	56	1	0	0	0	0	1	0	0	0	16606	933	33	1	819	1	TROAP	12	49719924	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	9002822	49719924	84131971	89	7636										
SMARCD1	6602	genome.wustl.edu	37	chr12	50484356	50484356	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atgccaccagaacctatcatCattaatcatgtcatcaggta	5	11	5	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr12:50484356C>T	ENST00000394963.4	+	9	1514	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	SMARCD1_ENST00000381513.4_Silent_p.I372I|SMARCD1_ENST00000548573.1_Silent_p.I170I	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AACCTATCATCATTAATCATG	0.493																																																	0													111	101	104					12																	50484356		2203	4300	6503	SO:0001819	synonymous_variant	6602			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1116C>T	12.37:g.50484356C>T				Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.I372	ENST00000394963.4	37	c.1116	CCDS8797.2	12																																																																																			SMARCD1	-	superfamily_SWIB_MDM2_domain		0.493	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	HGNC	protein_coding	OTTHUMT00000316759.2	C	NM_003076		50484356	1	no_errors	ENST00000394963	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50484356	C	T	50484356	2	4	56	1	0	0	0	0	0	0	0	1	14807	816	29	1		1	SMARCD1	12	50484356	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	764432	50484356	83367539	90	7637										
SHMT2	6472	genome.wustl.edu	37	chr12	57628084	57628084	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agtcagcgtctggccaacctCaggcaacgggtggagcagtt	14	11	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr12:57628084C>G	ENST00000328923.3	+	12	1907	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	SHMT2_ENST00000414700.3_Silent_p.L464L|SHMT2_ENST00000553474.1_Silent_p.L464L|SHMT2_ENST00000557487.1_Silent_p.L475L|SHMT2_ENST00000449049.3_Silent_p.L464L|SHMT2_ENST00000393827.4_Silent_p.L389L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	485					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TGGCCAACCTCAGGCAACGGG	0.527																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													115	114	114					12																	57628084		2203	4300	6503	SO:0001819	synonymous_variant	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1455C>G	12.37:g.57628084C>G			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.L485	ENST00000328923.3	37	c.1455	CCDS8934.1	12																																																																																			SHMT2	-	superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase		0.527	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2	C	NM_005412		57628084	1	no_errors	ENST00000328923	ensembl	human	known	70_37	silent	SNP	1.000	G	G	57628084	C	G	57628084	2	3	56	1	0	0	0	0	0	0	0	1	14316	813	29	1		1	SHMT2	12	57628084	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	7143728	57628084	76223811	91	7638										
SRGAP1	57522	genome.wustl.edu	37	chr12	64536255	64536255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	acgttgccctcaggagctccGagcctcagattcgacgtagc	11	14	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr12:64536255G>A	ENST00000355086.3	+	22	3585	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E958K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E998K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1021					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.E1021Q(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGAGCTCCGAGCCTCAGAT	0.567																																																	1	Substitution - Missense(1)	breast(1)											128	102	111					12																	64536255		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3061G>A	12.37:g.64536255G>A	ENSP00000347198:p.Glu1021Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E1021K	ENST00000355086.3	37	c.3061	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386935	0.61956	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.33216	1.42;1.42;1.42	6.04	6.04	0.98038	.	0.000000	0.35378	U	0.003260	T	0.28200	0.0696	L	0.50333	1.59	0.80722	D	1	P;P	0.40970	0.734;0.625	B;B	0.28305	0.041;0.088	T	0.04268	-1.0964	9	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1021;958	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	K	1021;998;958	ENSP00000347198:E1021K;ENSP00000350480:E998K;ENSP00000437948:E958K	.	E	+	1	0	SRGAP1	62822522	1.000000	0.71417	0.992000	0.48379	0.022000	0.10575	7.905000	0.87416	2.873000	0.98535	0.563000	0.77884	GAG	SRGAP1	-	NULL		0.567	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64536255	1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64536255	G	A	64536255	3	1	56	1	0	0	0	0	1	0	0	0	15175	1059	37	1	3147	1	SRGAP1	12	64536255	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	6908171	64536255	69315640	92	7639										
C13orf34	79866	genome.wustl.edu	37	chr13	73312182	73312182	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	acaatgtcattccagtaaatGtgagtgtactaaaaatgata	7	5	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr13:73312182G>T	ENST00000390667.5	+	5	485		c.e5+1		BORA_ENST00000464754.1_Splice_Site|BORA_ENST00000377815.3_Splice_Site	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TCCAGTAAATGTGAGTGTACT	0.343																																																	0													106	96	99					13																	73312182		1826	4081	5907	SO:0001630	splice_region_variant	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.388+1G>T	13.37:g.73312182G>T			B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Splice_Site	SNP	-	e4+1	ENST00000390667.5	37	c.388+1	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676668	0.67928	.	.	ENSG00000136122	ENST00000377814;ENST00000377815;ENST00000390667	.	.	.	5.91	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4808	0.75524	0.0671:0.0:0.9329:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BORA	72210183	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.384000	0.66225	2.793000	0.96121	0.655000	0.94253	.	BORA	-	-		0.343	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	G	NM_024808	Intron	73312182	1	no_errors	ENST00000390667	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	73312182	G	T	73312182	5	4	56	1	0	0	0	0	0	0	1	0	1732	1391	48	4	403	4	C13orf34	13	73312182	Splice_Site	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		73312182	41857696	93	7640										
SUPT16H	11198	genome.wustl.edu	37	chr14	21829300	21829300	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgtacttctttaataattcgGaaagcattctgaaggttcaa	7	6	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr14:21829300G>A	ENST00000216297.2	-	16	2204	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	622					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAATAATTCGGAAAGCATTCT	0.408																																																	0													121	115	117					14																	21829300		2203	4300	6503	SO:0001819	synonymous_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1866C>T	14.37:g.21829300G>A			Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.F622	ENST00000216297.2	37	c.1866	CCDS9569.1	14																																																																																			SUPT16H	-	pfam_FACT_Spt16p		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	G			21829300	-1	no_errors	ENST00000216297	ensembl	human	known	70_37	silent	SNP	0.994	A	A	21829300	G	A	21829300	2	1	56	1	0	0	0	0	0	0	0	1	15426	1165	41	1		1	SUPT16H	14	21829300	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		21829300	85520240	94	7641										
FOS	2353	genome.wustl.edu	37	chr14	75747739	75747739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgaccctgagcccaagccctCagtggaacctgtcaagagca	10	14	2	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr14:75747739C>T	ENST00000303562.4	+	4	964	c.755C>T	c.(754-756)tCa>tTa	p.S252L	FOS_ENST00000535987.1_Missense_Mutation_p.S216L|FOS_ENST00000555686.1_Missense_Mutation_p.S138L|FOS_ENST00000555347.1_Missense_Mutation_p.S104L	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	252					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CCCAAGCCCTCAGTGGAACCT	0.597																																																	0													72	70	71					14																	75747739		2203	4300	6503	SO:0001583	missense	2353			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.755C>T	14.37:g.75747739C>T	ENSP00000306245:p.Ser252Leu		A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.S252L	ENST00000303562.4	37	c.755	CCDS9841.1	14	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640360	0.29157	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.65916	0.42;0.8;-0.18	4.96	4.96	0.65561	.	0.728644	0.13384	N	0.391952	T	0.61578	0.2358	L	0.55990	1.75	0.39307	D	0.965014	B;B	0.20988	0.05;0.03	B;B	0.26770	0.073;0.017	T	0.56902	-0.7902	10	0.22706	T	0.39	-11.3293	18.1844	0.89788	0.0:1.0:0.0:0.0	.	216;252	B4DQ65;P01100	.;FOS_HUMAN	L	252;216;138;102;104	ENSP00000306245:S252L;ENSP00000442268:S216L;ENSP00000452590:S138L	ENSP00000306245:S252L	S	+	2	0	FOS	74817492	0.006000	0.16342	0.954000	0.39281	0.768000	0.43524	1.281000	0.33214	2.459000	0.83118	0.563000	0.77884	TCA	FOS	-	NULL		0.597	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOS	HGNC	protein_coding	OTTHUMT00000415044.1	C	NM_005252		75747739	1	no_errors	ENST00000303562	ensembl	human	known	70_37	missense	SNP	0.976	T	T	75747739	C	T	75747739	3	4	56	1	0	0	0	0	1	0	0	0	6003	838	29	1	769	1	FOS	14	75747739	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	53918439	75747739	31601801	95	7642										
RTL1	388015	genome.wustl.edu	37	chr14	101348765	101348765	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atgacgttcttgttcagtttCacccctttgggggtgacgac	11	10	3	2	rs554881658		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr14:101348765C>T	ENST00000534062.1	-	1	2419	c.2361G>A	c.(2359-2361)gtG>gtA	p.V787V	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	787					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGTTCAGTTTCACCCCTTTGG	0.552													C|||	1	0.000199681	0	0	5008	,	,		22227	0		0	False		,,,				2504	0.001																0													183	170	174					14																	101348765		692	1591	2283	SO:0001819	synonymous_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2361G>A	14.37:g.101348765C>T			E9PKS8	Silent	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.V787	ENST00000534062.1	37	c.2361	CCDS53910.1	14																																																																																			RTL1	-	NULL		0.552	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101348765	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	silent	SNP	0.058	T	T	101348765	C	T	101348765	2	4	56	1	0	0	0	0	0	0	0	1	13754	813	29	1		1	RTL1	14	101348765	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	25601026	101348765	6000775	96	7643										
ATP10A	57194	genome.wustl.edu	37	chr15	25932912	25932912	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggagtagcaccaatgcccgtGaagaatcaagagcctctcca	10	12	2	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:25932912G>A	ENST00000356865.6	-	16	3340	c.3229C>T	c.(3229-3231)Cac>Tac	p.H1077Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1077					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAATGCCCGTGAAGAATCAAG	0.493																																																	0													159	147	151					15																	25932912		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3229C>T	15.37:g.25932912G>A	ENSP00000349325:p.His1077Tyr		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.H1077Y	ENST00000356865.6	37	c.3229	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775457	0.70107	.	.	ENSG00000206190	ENST00000356865;ENST00000555756	T;T	0.74842	-0.88;-0.88	5.52	5.52	0.82312	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93623	0.6949	10	0.87932	D	0	-37.1126	19.4602	0.94914	0.0:0.0:1.0:0.0	.	1077	O60312	AT10A_HUMAN	Y	1077;106	ENSP00000349325:H1077Y;ENSP00000451615:H106Y	ENSP00000349325:H1077Y	H	-	1	0	ATP10A	23484005	1.000000	0.71417	0.712000	0.30502	0.253000	0.25986	9.539000	0.98076	2.590000	0.87494	0.655000	0.94253	CAC	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.493	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25932912	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25932912	G	A	25932912	3	1	56	1	0	0	0	0	1	0	0	0	1117	1290	45	1	1294	1	ATP10A	15	25932912	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		25932912	76598480	97	7644										
GOLGA8B	440270	genome.wustl.edu	37	chr15	34820269	34820269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	caccatctcctgcagctccaGcagcttcacctgaagggacg	9	16	2	1	rs142225671	byFrequency	TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:34820269G>A	ENST00000342314.5	-	15	1560	c.1463C>T	c.(1462-1464)gCt>gTt	p.A488V	GOLGA8B_ENST00000438958.2_Missense_Mutation_p.A518V|GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.A488V|MIR1233-2_ENST00000408138.1_RNA	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	488				A -> V (in Ref. 1; AAF40308, 2; AAF34136 and 4; AAI04801). {ECO:0000305}.		Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCAGCTCCAGCAGCTTCACC	0.682													g|||	3308	0.660543	0.8011	0.5202	5008	,	,		8746	0.7282		0.5686	False		,,,				2504	0.5951																0													1	1	1					15																	34820269		173	685	858	SO:0001583	missense	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"golgi autoantigen, golgin subfamily a, 8B"				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1463C>T	15.37:g.34820269G>A	ENSP00000343064:p.Ala488Val		A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.A518V	ENST00000342314.5	37	c.1553	CCDS45211.1	15	.	.	.	.	.	.	.	.	.	.	g	12.72	2.021891	0.35701	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958;ENST00000268079	T;T;T	0.13778	3.06;3.06;2.56	1.46	0.503	0.16940	.	.	.	.	.	T	0.23532	0.0569	L	0.46885	1.475	0.45250	P	0.0017409999999999926	B;D;P	0.71674	0.274;0.998;0.569	B;D;P	0.80764	0.188;0.994;0.525	T	0.23583	-1.0184	8	0.44086	T	0.13	.	5.793	0.18371	0.1978:0.0:0.8021:0.0	.	345;488;379	B7ZMK6;A8MQT2;Q659D1	.;GOG8B_HUMAN;.	V	488;488;518;379	ENSP00000343064:A488V;ENSP00000267731:A488V;ENSP00000400063:A518V	ENSP00000267731:A488V	A	-	2	0	GOLGA8B	32607561	0.971000	0.33674	0.977000	0.42913	0.019000	0.09904	1.551000	0.36233	0.183000	0.20059	0.162000	0.16502	GCT	GOLGA8B	-	NULL		0.682	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding	OTTHUMT00000251739.2	G	NM_001023567		34820269	-1	no_errors	ENST00000438958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34820269	G	A	34820269	3	1	56	1	0	0	0	0	1	0	0	0	6583	971	34	4	356	4	GOLGA8B	15	34820269	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	8887357	34820269	67711123	98	7645										
ZFP106	64397	genome.wustl.edu	37	chr15	42734469	42734469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggtgggtgatggagacacatGggaagatggaggctccagaa	18	5	0	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:42734469G>A	ENST00000263805.4	-	7	3822	c.3496C>T	c.(3496-3498)Cat>Tat	p.H1166Y	ZNF106_ENST00000565380.1_Missense_Mutation_p.H394Y|ZNF106_ENST00000565611.1_Missense_Mutation_p.H351Y	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1166					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGAGACACATGGGAAGATGGA	0.512																																																	0													119	110	113					15																	42734469		2203	4299	6502	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3496C>T	15.37:g.42734469G>A	ENSP00000263805:p.His1166Tyr		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1166Y	ENST00000263805.4	37	c.3496	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755923	0.49362	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.56941	0.43	5.03	5.03	0.67393	.	0.077372	0.52532	D	0.000077	T	0.55305	0.1912	L	0.44542	1.39	0.28878	N	0.894563	P;D;B	0.61080	0.475;0.989;0.347	B;P;B	0.53912	0.043;0.737;0.043	T	0.56056	-0.8042	10	0.62326	D	0.03	-17.8285	11.0775	0.48040	0.0874:0.0:0.9126:0.0	.	394;1166;394	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Y	1166;394	ENSP00000263805:H1166Y	ENSP00000263805:H1166Y	H	-	1	0	ZFP106	40521761	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	2.641000	0.46587	2.595000	0.87683	0.655000	0.94253	CAT	ZFP106	-	NULL		0.512	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	G	NM_022473		42734469	-1	no_errors	ENST00000263805	ensembl	human	known	70_37	missense	SNP	0.997	A	A	42734469	G	A	42734469	3	1	56	1	0	0	0	0	1	0	0	0	17667	1348	47	4	2207	4	ZFP106	15	42734469	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	7914200	42734469	59796923	99	7646										
CCDC33	80125	genome.wustl.edu	37	chr15	74625601	74625601	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gagcaggaggagacttgacaGagaggctacaagagacgcat	15	7	0	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:74625601G>C	ENST00000268082.4	+	7	777	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	CCDC33_ENST00000321288.5_Missense_Mutation_p.E863Q|CCDC33_ENST00000558821.1_Intron|CCDC33_ENST00000398814.3_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	849	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGACTTGACAGAGAGGCTACA	0.632																																																	0													25	32	30					15																	74625601		1989	4152	6141	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000268082.4:c.757G>C	15.37:g.74625601G>C	ENSP00000268082:p.Glu253Gln		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E863Q	ENST00000268082.4	37	c.2587	CCDS42059.1	15	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835172	0.50951	.	.	ENSG00000140481	ENST00000321288;ENST00000268082	T;T	0.44083	0.93;1.64	4.69	2.75	0.32379	.	0.453672	0.18621	N	0.135878	T	0.26231	0.0640	.	.	.	0.29644	N	0.8445	B;B	0.27997	0.129;0.197	B;B	0.30572	0.117;0.092	T	0.18461	-1.0336	9	0.22109	T	0.4	.	5.9967	0.19497	0.1029:0.1931:0.704:0.0	.	253;863	Q8N5R6-5;C9JFX2	.;.	Q	863;253	ENSP00000325012:E863Q;ENSP00000268082:E253Q	ENSP00000268082:E253Q	E	+	1	0	CCDC33	72412654	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.196000	0.17176	0.550000	0.28991	0.643000	0.83706	GAG	CCDC33	-	NULL		0.632	CCDC33-002	KNOWN	basic|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419494.1	G	NM_182791		74625601	1	no_errors	ENST00000321288	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74625601	G	C	74625601	3	2	56	1	0	0	0	0	1	0	0	0	2811	943	33	1	2117	1	CCDC33	15	74625601	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	31891132	74625601	27905791	100	7647										
CSPG4	1464	genome.wustl.edu	37	chr15	75975192	75975192	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ctcagcacccacctctgtgtGagaacagcacgagcccgccg	10	17	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:75975192G>T	ENST00000308508.5	-	6	4732	c.4640C>A	c.(4639-4641)tCa>tAa	p.S1547*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1547	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCTGTGTGAGAACAGCAC	0.731																																																	0													10	13	12					15																	75975192		2182	4266	6448	SO:0001587	stop_gained	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4640C>A	15.37:g.75975192G>T	ENSP00000312506:p.Ser1547*		D3DW77|Q92675	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.S1547*	ENST00000308508.5	37	c.4640	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	42	9.181289	0.99092	.	.	ENSG00000173546	ENST00000308508	.	.	.	3.95	3.03	0.35002	.	0.687669	0.12109	N	0.498677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	4.1746	0.10346	0.3105:0.0:0.6895:0.0	.	.	.	.	X	1547	.	ENSP00000312506:S1547X	S	-	2	0	CSPG4	73762247	0.775000	0.28604	1.000000	0.80357	0.237000	0.25408	3.997000	0.57016	2.217000	0.71921	0.455000	0.32223	TCA	CSPG4	-	NULL		0.731	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75975192	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	nonsense	SNP	0.988	T	T	75975192	G	T	75975192	4	4	56	1	0	0	0	0	0	1	0	0	3965	1294	45	3	2348	3	CSPG4	15	75975192	Nonsense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	1349591	75975192	26556200	101	7648										
CHRNA3	1136	genome.wustl.edu	37	chr15	78894297	78894297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tacagcgagtatgtgatgtcGgggtagatctcctcgcagca	13	9	1	2	rs144257258		TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:78894297G>A	ENST00000326828.5	-	5	1071	c.687C>T	c.(685-687)ccC>ccT	p.P229P	CHRNA3_ENST00000348639.3_Silent_p.P229P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	229					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	ATGTGATGTCGGGGTAGATCT	0.547																																																	0								G	,	0,4392		0,0,2196	212	175	187		687,687	-11.8	0	15	dbSNP_134	187	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CHRNA3	NM_000743.4,NM_001166694.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	229/506,229/490	78894297	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.687C>T	15.37:g.78894297G>A			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P229	ENST00000326828.5	37	c.687	CCDS10305.1	15																																																																																			CHRNA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.547	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	HGNC	protein_coding	OTTHUMT00000290111.3	G			78894297	-1	no_errors	ENST00000326828	ensembl	human	known	70_37	silent	SNP	0.000	A	A	78894297	G	A	78894297	2	1	56	1	0	0	0	0	0	0	0	1	3389	1103	39	2		2	CHRNA3	15	78894297	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	2919105	78894297	23637095	102	7649										
MEX3B	84206	genome.wustl.edu	37	chr15	82336662	82336662	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtctgctgctggatgcgcttGattgtggcgcctttgggccc	15	11	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:82336662G>C	ENST00000329713.4	-	2	984	c.549C>G	c.(547-549)atC>atG	p.I183M	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	183	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGATGCGCTTGATTGTGGCGC	0.672																																																	0													86	86	86					15																	82336662		2203	4300	6503	SO:0001583	missense	84206			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.549C>G	15.37:g.82336662G>C	ENSP00000329918:p.Ile183Met		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.I183M	ENST00000329713.4	37	c.549	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637806	0.67130	.	.	ENSG00000183496	ENST00000329713	T	0.56275	0.47	4.5	3.59	0.41128	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059089	0.64402	D	0.000003	T	0.71195	0.3311	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.73248	-0.4043	10	0.87932	D	0	-27.0497	7.9371	0.29935	0.1909:0.0:0.8091:0.0	.	183	Q6ZN04	MEX3B_HUMAN	M	183	ENSP00000329918:I183M	ENSP00000329918:I183M	I	-	3	3	MEX3B	80123717	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.307000	0.65762	1.121000	0.41925	0.561000	0.74099	ATC	MEX3B	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.672	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	G	XM_290645		82336662	-1	no_errors	ENST00000329713	ensembl	human	known	70_37	missense	SNP	1.000	C	C	82336662	G	C	82336662	3	2	56	1	0	0	0	0	1	0	0	0	9533	1280	45	1	1164	1	MEX3B	15	82336662	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	3442365	82336662	20194730	103	7650										
PDE8A	5151	genome.wustl.edu	37	chr15	85669515	85669515	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	accctaatcaaacgaatgctGattaaatgtgctgatgtgtc	8	8	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr15:85669515G>A	ENST00000310298.4	+	21	2415	c.2163G>A	c.(2161-2163)ctG>ctA	p.L721L	PDE8A_ENST00000394553.1_Silent_p.L721L|PDE8A_ENST00000339708.5_Silent_p.L675L|PDE8A_ENST00000557957.1_Silent_p.L649L			O60658	PDE8A_HUMAN	phosphodiesterase 8A	721	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	AACGAATGCTGATTAAATGTG	0.443																																																	0													111	103	105					15																	85669515		2203	4299	6502	SO:0001819	synonymous_variant	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2163G>A	15.37:g.85669515G>A			B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.L721	ENST00000310298.4	37	c.2163	CCDS10336.1	15																																																																																			PDE8A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.443	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1	G	NM_002605		85669515	1	no_errors	ENST00000310298	ensembl	human	known	70_37	silent	SNP	1.000	A	A	85669515	G	A	85669515	2	1	56	1	0	0	0	0	0	0	0	1	11677	1277	45	1		1	PDE8A	15	85669515	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	3332853	85669515	16861877	104	7651										
ZNF598	90850	genome.wustl.edu	37	chr16	2049698	2049698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tctgctggcaggagcttccgGggcctgcaaagcccctgggg	16	13	1	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:2049698G>T	ENST00000563630.1	-	9	1929	c.1687C>A	c.(1687-1689)Ccg>Acg	p.P563T	ZNF598_ENST00000431526.1_Missense_Mutation_p.P618T|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.P563T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	618							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAGCTTCCGGGGCCTGCAAA	0.657																																																	0													13	17	16					16																	2049698		1789	3976	5765	SO:0001583	missense	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1687C>A	16.37:g.2049698G>T	ENSP00000455882:p.Pro563Thr		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.P618T	ENST00000563630.1	37	c.1852		16	.	.	.	.	.	.	.	.	.	.	.	1.159	-0.644288	0.03531	.	.	ENSG00000167962	ENST00000431526	T	0.18338	2.22	4.17	3.22	0.36961	.	0.445621	0.25971	N	0.027130	T	0.16514	0.0397	L	0.56769	1.78	0.29847	N	0.828732	B	0.25904	0.137	B	0.25140	0.058	T	0.11616	-1.0580	10	0.19147	T	0.46	-0.99	11.0955	0.48141	0.0905:0.0:0.9095:0.0	.	618	Q86UK7	ZN598_HUMAN	T	618	ENSP00000411409:P618T	ENSP00000411409:P618T	P	-	1	0	ZNF598	1989699	0.280000	0.24249	0.145000	0.22337	0.071000	0.16799	1.378000	0.34328	0.986000	0.38683	0.650000	0.86243	CCG	ZNF598	-	NULL		0.657	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1	G	NM_178167		2049698	-1	no_errors	ENST00000431526	ensembl	human	known	70_37	missense	SNP	0.648	T	T	2049698	G	T	2049698	3	4	56	1	0	0	0	0	1	0	0	0	18058	1232	43	4	878	4	ZNF598	16	2049698	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		2049698	88305055	105	7652										
ZNF598	90850	genome.wustl.edu	37	chr16	2050434	2050434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gggcggctgggcctgtcaccGagaaggcttcttggcttaca	15	11	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:2050434G>A	ENST00000563630.1	-	8	1327	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	ZNF598_ENST00000431526.1_Missense_Mutation_p.S417L|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.S362L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	417							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCCTGTCACCGAGAAGGCTTC	0.647																																																	0													52	63	60					16																	2050434		1943	4129	6072	SO:0001583	missense	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1085C>T	16.37:g.2050434G>A	ENSP00000455882:p.Ser362Leu		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.S417L	ENST00000563630.1	37	c.1250		16	.	.	.	.	.	.	.	.	.	.	.	11.30	1.597359	0.28445	.	.	ENSG00000167962	ENST00000431526	T	0.17054	2.3	4.53	3.54	0.40534	.	0.478425	0.24527	N	0.037756	T	0.13243	0.0321	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18999	-1.0319	10	0.59425	D	0.04	-0.5147	11.4138	0.49941	0.0:0.0:0.8182:0.1818	.	417	Q86UK7	ZN598_HUMAN	L	417	ENSP00000411409:S417L	ENSP00000411409:S417L	S	-	2	0	ZNF598	1990435	0.005000	0.15991	0.003000	0.11579	0.008000	0.06430	1.325000	0.33724	1.161000	0.42604	0.467000	0.42956	TCG	ZNF598	-	NULL		0.647	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1	G	NM_178167		2050434	-1	no_errors	ENST00000431526	ensembl	human	known	70_37	missense	SNP	0.004	A	A	2050434	G	A	2050434	3	1	56	1	0	0	0	0	1	0	0	0	18058	1059	37	1	1484	1	ZNF598	16	2050434	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	736	2050434	88304319	106	7653										
CREBBP	1387	genome.wustl.edu	37	chr16	3786798	3786798	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tcacttggaggacaggcccaGatgtgccctgtcacatacct	10	13	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:3786798G>C	ENST00000262367.5	-	27	5222	c.4413C>G	c.(4411-4413)atC>atG	p.I1471M	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1433M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1471	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GACAGGCCCAGATGTGCCCTG	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													163	138	147					16																	3786798		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4413C>G	16.37:g.3786798G>C	ENSP00000262367:p.Ile1471Met		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.I1471M	ENST00000262367.5	37	c.4413	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	14.91	2.676709	0.47886	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94280	-3.39;-3.39	5.25	1.9	0.25705	.	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	H	0.95850	3.73	0.58432	D	0.999991	D;D	0.71674	0.998;0.998	D;D	0.87578	0.998;0.998	D	0.95639	0.8696	10	0.87932	D	0	-21.9504	7.4588	0.27283	0.0802:0.0:0.6245:0.2953	.	1501;1471	Q4LE28;Q92793	.;CBP_HUMAN	M	1471;1501;1433;60	ENSP00000262367:I1471M;ENSP00000371502:I1433M	ENSP00000262367:I1471M	I	-	3	3	CREBBP	3726799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.277000	0.33167	0.655000	0.30866	0.561000	0.74099	ATC	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3786798	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3786798	G	C	3786798	3	2	56	1	0	0	0	0	1	0	0	0	3866	932	33	1	2935	1	CREBBP	16	3786798	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	1736364	3786798	86567955	107	7654										
CP110	9738	genome.wustl.edu	37	chr16	19553321	19553321	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atggagaaaaataagtgactCtagtttgctggaaacaatgc	10	5	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:19553321C>G	ENST00000381396.5	+	6	2409	c.2162C>G	c.(2161-2163)tCt>tGt	p.S721C	CCP110_ENST00000396208.2_Missense_Mutation_p.S721C|CCP110_ENST00000396212.2_Missense_Mutation_p.S721C	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	721					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATAAGTGACTCTAGTTTGCTG	0.368																																																	0													134	138	137					16																	19553321		2197	4300	6497	SO:0001583	missense	9738			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2162C>G	16.37:g.19553321C>G	ENSP00000370803:p.Ser721Cys		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.S721C	ENST00000381396.5	37	c.2162	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316654	0.60524	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.20598	2.06;2.06;2.06	5.92	3.9	0.45041	.	0.486350	0.22150	N	0.063921	T	0.31451	0.0797	L	0.55481	1.735	0.25011	N	0.991409	D;D	0.71674	0.998;0.998	D;D	0.63113	0.911;0.911	T	0.16512	-1.0400	10	0.62326	D	0.03	-14.0514	4.1055	0.10035	0.1347:0.5567:0.2206:0.088	.	721;721	O43303;O43303-2	CP110_HUMAN;.	C	721	ENSP00000379515:S721C;ENSP00000370803:S721C;ENSP00000379511:S721C	ENSP00000370803:S721C	S	+	2	0	CCP110	19460822	0.614000	0.27017	0.877000	0.34402	0.936000	0.57629	1.480000	0.35464	2.794000	0.96219	0.650000	0.86243	TCT	CCP110	-	NULL		0.368	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	C	NM_014711		19553321	1	no_errors	ENST00000381396	ensembl	human	known	70_37	missense	SNP	0.426	G	G	19553321	C	G	19553321	3	3	56	1	0	0	0	0	1	0	0	0	3793	913	32	1	2180	1	CP110	16	19553321	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	15766523	19553321	70801432	108	7655										
LOC81691	81691	genome.wustl.edu	37	chr16	20838394	20838394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgaaagcttttcgggaatcaCgaagaagattcttaacccag	9	8	2	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:20838394C>T	ENST00000261377.6	+	9	1045	c.836C>T	c.(835-837)aCg>aTg	p.T279M	AC004381.6_ENST00000348433.6_Missense_Mutation_p.T279M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.T279M	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TCGGGAATCACGAAGAAGATT	0.378																																																	0													86	85	85					16																	20838394		2201	4300	6501	SO:0001583	missense	81691																														ENST00000261377.6:c.836C>T	16.37:g.20838394C>T	ENSP00000261377:p.Thr279Met			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom	p.T279M	ENST00000261377.6	37	c.836	CCDS10591.1	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365010	0.82463	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.28255	1.62;1.62	5.22	5.22	0.72569	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82841	-0.0258	10	0.87932	D	0	-11.8337	17.5583	0.87898	0.0:1.0:0.0:0.0	.	279;279	Q96IC2-2;Q96IC2	.;REXON_HUMAN	M	279	ENSP00000261378:T279M;ENSP00000261377:T279M	ENSP00000261377:T279M	T	+	2	0	AC004381.6	20745895	0.998000	0.40836	0.936000	0.37596	0.985000	0.73830	4.112000	0.57845	2.432000	0.82394	0.655000	0.94253	ACG	AC004381.6	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.378	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC81691	Clone_based_vega_gene	protein_coding	OTTHUMT00000254418.2	C			20838394	1	no_errors	ENST00000261377	ensembl	human	known	70_37	missense	SNP	0.997	T	T	20838394	C	T	20838394	3	4	56	1	0	0	0	0	1	0	0	0	8913	536	19	2	866	2	LOC81691	16	20838394	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1285073	20838394	69516359	109	7656										
TBC1D10B	26000	genome.wustl.edu	37	chr16	30371123	30371123	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	taaccctcgtcaggccggtaGatggtgtaggccttcaggat	13	10	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:30371123G>C	ENST00000409939.3	-	5	1391	c.1311C>G	c.(1309-1311)atC>atG	p.I437M		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	437	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CAGGCCGGTAGATGGTGTAGG	0.662																																																	0													56	48	51					16																	30371123		2196	4295	6491	SO:0001583	missense	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1311C>G	16.37:g.30371123G>C	ENSP00000386538:p.Ile437Met		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.I437M	ENST00000409939.3	37	c.1311	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750844	0.69533	.	.	ENSG00000169221	ENST00000409939	T	0.04551	3.6	5.09	4.14	0.48551	Rab-GAP/TBC domain (4);	0.161469	0.41500	D	0.000865	T	0.12561	0.0305	L	0.46567	1.45	0.43175	D	0.994988	D	0.63046	0.992	D	0.67900	0.954	T	0.01182	-1.1426	10	0.72032	D	0.01	.	8.3567	0.32335	0.0848:0.156:0.7592:0.0	.	437	Q4KMP7	TB10B_HUMAN	M	437	ENSP00000386538:I437M	ENSP00000386538:I437M	I	-	3	3	TBC1D10B	30278624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.954000	0.49113	1.171000	0.42768	0.456000	0.33151	ATC	TBC1D10B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.662	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	G	NM_015527		30371123	-1	no_errors	ENST00000409939	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30371123	G	C	30371123	3	2	56	1	0	0	0	0	1	0	0	0	15629	932	33	1	1135	1	TBC1D10B	16	30371123	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	9532729	30371123	59983630	110	7657										
ZNF48	197407	genome.wustl.edu	37	chr16	30409681	30409681	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgcgaccgtaccttcagcctCagctccacccttcttcgcca	6	19	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:30409681C>G	ENST00000320159.2	+	2	1486	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTTCAGCCTCAGCTCCACCC	0.652																																																	0													105	66	79					16																	30409681		2197	4300	6497	SO:0001819	synonymous_variant	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1110C>G	16.37:g.30409681C>G			Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L370	ENST00000320159.2	37	c.1110	CCDS10679.1	16																																																																																			ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409681	1	no_errors	ENST00000320159	ensembl	human	known	70_37	silent	SNP	1.000	G	G	30409681	C	G	30409681	2	3	56	1	0	0	0	0	0	0	0	1	17964	813	29	1		1	ZNF48	16	30409681	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	38558	30409681	59945072	111	7658										
RRAD	6236	genome.wustl.edu	37	chr16	66956094	66956094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	cctttttgccaaggctctctCgcctccgggtgcctgcttgc	10	16	1	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:66956094C>T	ENST00000299759.6	-	5	1062	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	RRAD_ENST00000420652.1_Missense_Mutation_p.R271Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	271					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AAGGCTCTCTCGCCTCCGGGT	0.607																																																	0													96	76	83					16																	66956094		2200	4300	6500	SO:0001583	missense	6236			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.812G>A	16.37:g.66956094C>T	ENSP00000299759:p.Arg271Gln		Q96F39	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R271Q	ENST00000299759.6	37	c.812	CCDS10824.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.798422	0.96960	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68025	-0.3;-0.3	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81833	0.4906	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.64237	0.923	T	0.82440	-0.0456	10	0.72032	D	0.01	.	20.328	0.98708	0.0:1.0:0.0:0.0	.	271	P55042	RAD_HUMAN	Q	271	ENSP00000388744:R271Q;ENSP00000299759:R271Q	ENSP00000299759:R271Q	R	-	2	0	RRAD	65513595	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.484000	0.81180	2.802000	0.96397	0.561000	0.74099	CGA	RRAD	-	pirsf_Small_GTPase_GEM/REM/Rad		0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAD	HGNC	protein_coding	OTTHUMT00000268830.1	C	NM_004165		66956094	-1	no_errors	ENST00000299759	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66956094	C	T	66956094	3	4	56	1	0	0	0	0	1	0	0	0	13701	884	31	1	118	1	RRAD	16	66956094	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	36546413	66956094	23398659	112	7659										
FHOD1	29109	genome.wustl.edu	37	chr16	67265247	67265247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aggtagctcagctcaaagccGctgctctgaaaggacccttt	10	12	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:67265247G>A	ENST00000258201.4	-	17	2758	c.2511C>T	c.(2509-2511)agC>agT	p.S837S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	837	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCTCAAAGCCGCTGCTCTGAA	0.587																																																	0													84	80	81					16																	67265247		2198	4300	6498	SO:0001819	synonymous_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2511C>T	16.37:g.67265247G>A			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S837	ENST00000258201.4	37	c.2511	CCDS10834.1	16																																																																																			FHOD1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.587	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	G			67265247	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	silent	SNP	0.874	A	A	67265247	G	A	67265247	2	1	56	1	0	0	0	0	0	0	0	1	5900	1078	38	2		2	FHOD1	16	67265247	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	309153	67265247	23089506	113	7660										
DHX38	9785	genome.wustl.edu	37	chr16	72138925	72138925	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtgtccccactgctgttgcaGaccccacaggaggattacgt	11	13	0	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr16:72138925G>C	ENST00000268482.3	+	16	2660		c.e16-1		DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGCTGTTGCAGACCCCACAGG	0.622																																					Melanoma(97;711 1442 7855 13832 28836)												0													34	32	33					16																	72138925		2198	4300	6498	SO:0001630	splice_region_variant	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2152-1G>C	16.37:g.72138925G>C			B4DVG8|D3DWS7|O75212|Q96HN7	Splice_Site	SNP	-	e15-1	ENST00000268482.3	37	c.2152-1	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711335	0.68730	.	.	ENSG00000140829	ENST00000268482	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7815	0.88524	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX38	70696426	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	8.886000	0.92447	2.597000	0.87782	0.643000	0.83706	.	DHX38	-	-		0.622	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	G	NM_014003	Intron	72138925	1	no_errors	ENST00000268482	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	72138925	G	C	72138925	5	2	56	1	0	0	0	0	0	0	1	0	4521	956	33	1	2209	1	DHX38	16	72138925	Splice_Site	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	4873678	72138925	18215828	114	7661										
TSR1	55720	genome.wustl.edu	37	chr17	2236281	2236281	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ttcctcctccataaaatcctCatgttccatatcatcatatt	1	13	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:2236281C>T	ENST00000301364.5	-	7	2358	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	427	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATAAAATCCTCATGTTCCATA	0.443																																																	0													175	158	163					17																	2236281		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1279G>A	17.37:g.2236281C>T	ENSP00000301364:p.Glu427Lys		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.E427K	ENST00000301364.5	37	c.1279	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992087	0.54041	.	.	ENSG00000167721	ENST00000301364	T	0.12774	2.65	4.6	4.6	0.57074	.	0.715092	0.13344	N	0.394904	T	0.18341	0.0440	M	0.73598	2.24	0.53005	D	0.999962	P	0.36683	0.565	B	0.32980	0.156	T	0.12372	-1.0550	10	0.15952	T	0.53	-10.1594	16.1379	0.81502	0.0:1.0:0.0:0.0	.	427	Q2NL82	TSR1_HUMAN	K	427	ENSP00000301364:E427K	ENSP00000301364:E427K	E	-	1	0	TSR1	2183031	1.000000	0.71417	0.963000	0.40424	0.884000	0.51177	3.964000	0.56780	2.380000	0.81148	0.557000	0.71058	GAG	TSR1	-	NULL		0.443	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	C	NM_018128		2236281	-1	no_errors	ENST00000301364	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2236281	C	T	2236281	3	4	56	1	0	0	0	0	1	0	0	0	16695	835	29	1	1171	1	TSR1	17	2236281	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		2236281	78958929	115	7662										
C17orf85	55421	genome.wustl.edu	37	chr17	3716346	3716346	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gccccaggggcatcaggactCtgcctctgaaccagagctgc	12	15	3	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:3716346C>T	ENST00000389005.4	-	13	1882	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	C17orf85_ENST00000158149.3_Missense_Mutation_p.E339K	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	619							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CATCAGGACTCTGCCTCTGAA	0.567																																																	0													68	71	70					17																	3716346		2203	4300	6503	SO:0001583	missense	55421				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1855G>A	17.37:g.3716346C>T	ENSP00000373657:p.Glu619Lys		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.E619K	ENST00000389005.4	37	c.1855	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587363	0.66105	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.85	5.85	0.93711	.	0.064020	0.64402	D	0.000004	T	0.36608	0.0973	N	0.14661	0.345	0.49130	D	0.999757	P	0.47762	0.9	B	0.36464	0.225	T	0.39272	-0.9622	9	0.56958	D	0.05	-26.0904	18.0364	0.89305	0.0:1.0:0.0:0.0	.	619	Q53F19	CQ085_HUMAN	K	619;339	.	ENSP00000158149:E339K	E	-	1	0	C17orf85	3663095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.412000	0.73303	2.941000	0.99782	0.655000	0.94253	GAG	C17orf85	-	NULL		0.567	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	C	NM_018553		3716346	-1	no_errors	ENST00000389005	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3716346	C	T	3716346	3	4	56	1	0	0	0	0	1	0	0	0	1892	922	32	1	11	1	C17orf85	17	3716346	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	1480065	3716346	77478864	116	7663										
FAM64A	54478	genome.wustl.edu	37	chr17	6348471	6348471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	catggggacctccgtgcgccGgagatctctccagcaccagg	13	15	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:6348471G>A	ENST00000250056.8	+	2	124	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	FAM64A_ENST00000571373.1_Missense_Mutation_p.R14Q|FAM64A_ENST00000576056.1_Missense_Mutation_p.R14Q|FAM64A_ENST00000570337.2_Missense_Mutation_p.R14Q|FAM64A_ENST00000572447.1_Missense_Mutation_p.R14Q|FAM64A_ENST00000572595.2_Missense_Mutation_p.R14Q	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	14					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		TCCGTGCGCCGGAGATCTCTC	0.632																																																	0													26	29	28					17																	6348471		2203	4300	6503	SO:0001583	missense	54478				CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.41G>A	17.37:g.6348471G>A	ENSP00000250056:p.Arg14Gln		Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	pfam_DUF1466	p.R14Q	ENST00000250056.8	37	c.41	CCDS56016.1	17	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851865	0.51270	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.57436	0.4	4.51	-0.0923	0.13657	.	0.758999	0.11847	N	0.523713	T	0.61098	0.2320	M	0.67953	2.075	0.09310	N	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.992;0.947	T	0.49934	-0.8886	10	0.24483	T	0.36	-8.6214	3.5764	0.07936	0.196:0.0:0.4627:0.3414	.	14;14	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	Q	14	ENSP00000250056:R14Q	ENSP00000250056:R14Q	R	+	2	0	FAM64A	6289195	0.048000	0.20356	0.016000	0.15963	0.070000	0.16714	1.398000	0.34554	0.112000	0.17975	-0.181000	0.13052	CGG	FAM64A	-	pfam_DUF1466		0.632	FAM64A-008	KNOWN	basic|CCDS	protein_coding	FAM64A	HGNC	protein_coding	OTTHUMT00000439156.1	G	NM_019013		6348471	1	no_errors	ENST00000250056	ensembl	human	known	70_37	missense	SNP	0.004	A	A	6348471	G	A	6348471	3	1	56	1	0	0	0	0	1	0	0	0	5616	1116	39	2	43	2	FAM64A	17	6348471	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	2632125	6348471	74846739	117	7664										
RAB11FIP4	84440	genome.wustl.edu	37	chr17	29857424	29857424	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ctctacgaagcaaaaaacctCtttgctgcccagactaaagc	6	13	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:29857424C>G	ENST00000325874.8	+	14	1963	c.1734C>G	c.(1732-1734)ctC>ctG	p.L578L	RAB11FIP4_ENST00000394744.2_Silent_p.L476L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	578	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAAAAAACCTCTTTGCTGCCC	0.547																																																	0													101	103	102					17																	29857424		2203	4300	6503	SO:0001819	synonymous_variant	84440			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1734C>G	17.37:g.29857424C>G			Q52LI1|Q8N829|Q8NDT7|Q969D8	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.L578	ENST00000325874.8	37	c.1734	CCDS11267.1	17																																																																																			RAB11FIP4	-	NULL		0.547	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP4	HGNC	protein_coding	OTTHUMT00000256195.2	C	NM_032932		29857424	1	no_errors	ENST00000325874	ensembl	human	known	70_37	silent	SNP	1.000	G	G	29857424	C	G	29857424	2	3	56	1	0	0	0	0	0	0	0	1	12926	900	32	1		1	RAB11FIP4	17	29857424	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	23508953	29857424	51337786	118	7665										
CDK12	51755	genome.wustl.edu	37	chr17	37681036	37681036	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	catccaaaacttctcgaaaaGaaactacctcagggacaagt	6	11	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:37681036G>C	ENST00000447079.4	+	12	3238	c.3205G>C	c.(3205-3207)Gaa>Caa	p.E1069Q	CDK12_ENST00000430627.2_Missense_Mutation_p.E1069Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1069					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTCTCGAAAAGAAACTACCTC	0.542			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													116	116	116					17																	37681036		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3205G>C	17.37:g.37681036G>C	ENSP00000398880:p.Glu1069Gln		A7E2B2|B4DYX4|B9EIQ6|O94978	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.E1069Q	ENST00000447079.4	37	c.3205	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047434	0.75846	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69040	-0.37;-0.34	4.98	4.98	0.66077	.	0.000000	0.44483	D	0.000446	T	0.76256	0.3962	L	0.61218	1.895	0.53688	D	0.999978	P;P;D	0.54207	0.941;0.941;0.965	P;P;P	0.55871	0.478;0.616;0.786	T	0.76929	-0.2777	10	0.48119	T	0.1	-14.2957	18.0521	0.89353	0.0:0.0:1.0:0.0	.	1068;1069;1069	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	Q	1069	ENSP00000407720:E1069Q;ENSP00000398880:E1069Q	ENSP00000407720:E1069Q	E	+	1	0	CDK12	34934562	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.263000	0.95617	2.591000	0.87537	0.563000	0.77884	GAA	CDK12	-	NULL		0.542	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37681036	1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37681036	G	C	37681036	3	2	56	1	0	0	0	0	1	0	0	0	3133	943	33	1	3251	1	CDK12	17	37681036	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	7823612	37681036	43514174	119	7666										
ITGA2B	3674	genome.wustl.edu	37	chr17	42463033	42463033	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gctacctacgggcgtcttctCagcctcctcagtcttttcta	7	15	5	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:42463033C>G	ENST00000262407.5	-	4	491	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Missense_Mutation_p.E154Q	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	154					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGCGTCTTCTCAGCCTCCTCA	0.647																																																	0													30	38	35					17																	42463033		2200	4299	6499	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.460G>C	17.37:g.42463033C>G	ENSP00000262407:p.Glu154Gln		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E154Q	ENST00000262407.5	37	c.460	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116648	0.37339	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.85088	-1.94;-1.94	5.55	3.51	0.40186	.	0.473469	0.15607	N	0.253624	T	0.81669	0.4871	L	0.56396	1.775	0.80722	D	1	B	0.20550	0.046	B	0.16289	0.015	T	0.73448	-0.3979	10	0.20519	T	0.43	.	14.0669	0.64837	0.0:0.7119:0.2881:0.0	.	154	P08514	ITA2B_HUMAN	Q	154	ENSP00000262407:E154Q;ENSP00000340536:E154Q	ENSP00000262407:E154Q	E	-	1	0	ITGA2B	39818559	0.358000	0.24947	0.962000	0.40283	0.234000	0.25298	1.402000	0.34600	0.672000	0.31204	0.561000	0.74099	GAG	ITGA2B	-	NULL		0.647	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	C			42463033	-1	no_errors	ENST00000262407	ensembl	human	known	70_37	missense	SNP	0.807	G	G	42463033	C	G	42463033	3	3	56	1	0	0	0	0	1	0	0	0	7896	835	29	1	2767	1	ITGA2B	17	42463033	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	4781997	42463033	38732177	120	7667										
SP2	6668	genome.wustl.edu	37	chr17	45993695	45993695	+	Missense_Mutation	SNP	C	C	G													0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggcaagaatagctttggaatCttgtcctccaaaggaaatat							TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:45993695C>G	ENST00000376741.4	+	3	395	c.258C>G	c.(256-258)atC>atG	p.I86M	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	86					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCTTTGGAATCTTGTCCTCCA	0.552																																																	0													102	105	104					17																	45993695		2203	4300	6503	SO:0001583	missense	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.258C>G	17.37:g.45993695C>G	ENSP00000365931:p.Ile86Met		A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I86M	ENST00000376741.4	37	c.258	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982186	0.34942	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.15139	2.45	5.29	3.26	0.37387	.	0.180613	0.49305	D	0.000142	T	0.13841	0.0335	L	0.54323	1.7	0.40973	D	0.984711	P	0.34780	0.468	B	0.27500	0.08	T	0.06770	-1.0808	10	0.72032	D	0.01	.	6.9826	0.24711	0.0:0.6967:0.1434:0.1599	.	86	Q02086	SP2_HUMAN	M	86;79	ENSP00000365931:I86M	ENSP00000316942:I79M	I	+	3	3	SP2	43348694	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.821000	0.48065	1.457000	0.47850	0.467000	0.42956	ATC	SP2	-	NULL		0.552	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	C	NM_003110		45993695	1	no_errors	ENST00000376741	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45993695	C	G	45993695	3	3	56	1	0	0	0	0	1	0	0	0	14994	903	32	1	268	1	SP2	17	45993695	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	3530662	45993695	35201515	121	7668	40	2								
SP2	6668	genome.wustl.edu	37	chr17	45993703	45993703	+	Missense_Mutation	SNP	C	C	T													0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tagctttggaatcttgtcctCcaaaggaaatatacttcaga							TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:45993703C>T	ENST00000376741.4	+	3	403	c.266C>T	c.(265-267)tCc>tTc	p.S89F	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	89					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						ATCTTGTCCTCCAAAGGAAAT	0.542																																																	0													101	104	103					17																	45993703		2203	4300	6503	SO:0001583	missense	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.266C>T	17.37:g.45993703C>T	ENSP00000365931:p.Ser89Phe		A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S89F	ENST00000376741.4	37	c.266	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956727	0.73902	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.10960	2.82	5.29	4.32	0.51571	.	0.063531	0.64402	D	0.000006	T	0.23330	0.0564	L	0.58101	1.795	0.46901	D	0.999241	D	0.67145	0.996	P	0.57548	0.823	T	0.01081	-1.1458	10	0.87932	D	0	.	12.8811	0.58017	0.0:0.9203:0.0:0.0797	.	89	Q02086	SP2_HUMAN	F	89;82	ENSP00000365931:S89F	ENSP00000316942:S82F	S	+	2	0	SP2	43348702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.046000	0.76592	1.457000	0.47850	0.467000	0.42956	TCC	SP2	-	NULL		0.542	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	C	NM_003110		45993703	1	no_errors	ENST00000376741	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45993703	C	T	45993703	3	4	56	1	0	0	0	0	1	0	0	0	14994	855	30	1	276	1	SP2	17	45993703	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	8	45993703	35201507	122	7669	40	2								
MBTD1	54799	genome.wustl.edu	37	chr17	49281154	49281154	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggtaaataaactacttacttCtaggaggaacaagaggtttt	9	5	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:49281154C>G	ENST00000586178.1	-	8	1080	c.737G>C	c.(736-738)aGa>aCa	p.R246T	MBTD1_ENST00000415868.1_Missense_Mutation_p.R246T|MBTD1_ENST00000376381.2_Missense_Mutation_p.R246T	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	246					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTACTTACTTCTAGGAGGAAC	0.368																																																	0													98	99	99					17																	49281154		2203	4300	6503	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.737G>C	17.37:g.49281154C>G	ENSP00000468304:p.Arg246Thr		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.R246T	ENST00000586178.1	37	c.737	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	c	15.51	2.854420	0.51270	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.30182	1.54;1.54	4.84	4.84	0.62591	.	0.099089	0.64402	D	0.000001	T	0.30448	0.0765	L	0.57536	1.79	0.38734	D	0.95373	B;B;B	0.29115	0.233;0.056;0.1	B;B;B	0.27887	0.084;0.029;0.051	T	0.24870	-1.0148	10	0.56958	D	0.05	.	11.5698	0.50826	0.0:0.9177:0.0:0.0823	.	246;246;82	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	T	246	ENSP00000403946:R246T;ENSP00000365561:R246T	ENSP00000365561:R246T	R	-	2	0	MBTD1	46636153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.876000	0.63079	2.258000	0.74832	0.627000	0.83407	AGA	MBTD1	-	pfam_Mbt		0.368	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	C			49281154	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49281154	C	G	49281154	3	3	56	1	0	0	0	0	1	0	0	0	9383	913	32	1	1189	1	MBTD1	17	49281154	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	3287451	49281154	31914056	123	7670										
GALK1	2584	genome.wustl.edu	37	chr17	73760097	73760097	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ggggctcatcggcaccctcaGaggtggtgaggagagacacc	16	11	2	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:73760097G>C	ENST00000588479.1	-	2	810	c.236C>G	c.(235-237)tCt>tGt	p.S79C	GALK1_ENST00000437911.1_Missense_Mutation_p.S109C|GALK1_ENST00000225614.2_Missense_Mutation_p.S79C			P51570	GALK1_HUMAN	galactokinase 1	79					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCACCCTCAGAGGTGGTGAG	0.652																																																	0													25	24	24					17																	73760097		2202	4300	6502	SO:0001583	missense	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.236C>G	17.37:g.73760097G>C	ENSP00000465930:p.Ser79Cys		B2RC07|B4E1G6	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.S109C	ENST00000588479.1	37	c.326	CCDS11728.1	17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181786	0.38511	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.84370	-1.84;-1.84	4.77	4.77	0.60923	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.386121	0.28488	N	0.015165	D	0.85318	0.5669	M	0.69823	2.125	0.18873	N	0.999988	B;B	0.31274	0.317;0.018	B;B	0.31390	0.129;0.012	T	0.79463	-0.1793	10	0.54805	T	0.06	-6.0452	18.1773	0.89766	0.0:0.0:1.0:0.0	.	79;79	B4E1A8;P51570	.;GALK1_HUMAN	C	79;109;182	ENSP00000225614:S79C;ENSP00000406305:S109C	ENSP00000225614:S79C	S	-	2	0	GALK1	71271692	0.223000	0.23663	0.908000	0.35775	0.829000	0.46940	2.733000	0.47360	2.369000	0.80426	0.655000	0.94253	TCT	GALK1	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase		0.652	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73760097	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	missense	SNP	0.098	C	C	73760097	G	C	73760097	3	2	56	1	0	0	0	0	1	0	0	0	6222	942	33	1	970	1	GALK1	17	73760097	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	24478943	73760097	7435113	124	7671										
C17orf101	79701	genome.wustl.edu	37	chr17	80352367	80352367	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccagcagcttcactggctctCggtccattaacttcttggaa	8	13	3	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr17:80352367C>T	ENST00000313056.5	-	9	975				OGFOD3_ENST00000578287.1_5'Flank|OGFOD3_ENST00000329197.5_Silent_p.P292P	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										CACTGGCTCTCGGTCCATTAA	0.567																																																	0													95	93	93					17																	80352367		2203	4300	6503	SO:0001627	intron_variant	79701			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.824-1957G>A	17.37:g.80352367C>T			C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	smart_Pro_4_hyd_alph	p.P292	ENST00000313056.5	37	c.876	CCDS11811.1	17																																																																																			OGFOD3	-	smart_Pro_4_hyd_alph		0.567	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD3	HGNC	protein_coding	OTTHUMT00000442895.1	C	NM_175902		80352367	-1	no_errors	ENST00000329197	ensembl	human	known	70_37	silent	SNP	0.007	T	T	80352367	C	T	80352367	1	4	56	0	1	0	0	0	0	0	0	0	1852	871	31	1		1	C17orf101	17	80352367	Intron	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	6592270	80352367	842843	125	7672										
DYM	54808	genome.wustl.edu	37	chr18	46798640	46798640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	atggtgtgaattcctttcttCaacatgatacagaatctcaa	6	8	3	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr18:46798640C>T	ENST00000269445.6	-	11	1616	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	DYM_ENST00000442713.2_Missense_Mutation_p.E197K	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	387					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TTCCTTTCTTCAACATGATAC	0.299																																																	0													94	86	88					18																	46798640		2203	4299	6502	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1159G>A	18.37:g.46798640C>T	ENSP00000269445:p.Glu387Lys		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.E387K	ENST00000269445.6	37	c.1159	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484189	0.84854	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.83419	-1.72;-1.72	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	L	0.58669	1.825	0.80722	D	1	P;D;D	0.69078	0.932;0.997;0.984	P;D;P	0.80764	0.647;0.994;0.802	D	0.89187	0.3548	10	0.45353	T	0.12	-16.6365	18.4338	0.90636	0.0:1.0:0.0:0.0	.	197;209;387	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	K	197;387	ENSP00000395942:E197K;ENSP00000269445:E387K	ENSP00000269445:E387K	E	-	1	0	DYM	45052638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.456000	0.80751	2.359000	0.80004	0.585000	0.79938	GAA	DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold		0.299	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	C	NM_017653		46798640	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46798640	C	T	46798640	3	4	56	1	0	0	0	0	1	0	0	0	4850	835	29	1	878	1	DYM	18	46798640	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		46798640	31278608	126	7673										
ALPK2	115701	genome.wustl.edu	37	chr18	56203560	56203560	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tatttcagagggggccaattCaggcacaacagcatctgcct	10	11	3	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr18:56203560C>T	ENST00000361673.3	-	5	4072	c.3859G>A	c.(3859-3861)Gaa>Aaa	p.E1287K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1287						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1287Q(1)|p.E648Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGGGCCAATTCAGGCACAACA	0.507																																																	2	Substitution - Missense(2)	lung(2)											132	121	125					18																	56203560		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3859G>A	18.37:g.56203560C>T	ENSP00000354991:p.Glu1287Lys		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.E1287K	ENST00000361673.3	37	c.3859	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389563	0.42410	.	.	ENSG00000198796	ENST00000361673	T	0.51071	0.72	5.39	2.2	0.27929	.	1.605380	0.03420	N	0.206117	T	0.41766	0.1173	L	0.38838	1.175	0.09310	N	1	P;B	0.40107	0.703;0.227	B;B	0.40101	0.319;0.034	T	0.31251	-0.9950	10	0.28530	T	0.3	-8.9077	8.3813	0.32472	0.0:0.7287:0.0:0.2713	.	1282;1287	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	K	1287	ENSP00000354991:E1287K	ENSP00000354991:E1287K	E	-	1	0	ALPK2	54354540	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	0.021000	0.13489	0.658000	0.30925	0.462000	0.41574	GAA	ALPK2	-	NULL		0.507	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	C	NM_052947		56203560	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.002	T	T	56203560	C	T	56203560	3	4	56	1	0	0	0	0	1	0	0	0	545	835	29	1	2689	1	ALPK2	18	56203560	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	9404920	56203560	21873688	127	7674										
PCP2	126006	genome.wustl.edu	37	chr19	7696665	7696665	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gtgagcaggggttggggactGagggtcccagctcgtttctg	18	8	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr19:7696665G>C	ENST00000311069.5	-	4	611	c.321C>G	c.(319-321)ctC>ctG	p.L107L	PET100_ENST00000594797.1_3'UTR|CTD-3214H19.4_ENST00000595866.1_Intron|XAB2_ENST00000534844.1_5'Flank|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.6_ENST00000601797.1_RNA|PCP2_ENST00000598935.1_Silent_p.L91L	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	107					rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						GTTGGGGACTGAGGGTCCCAG	0.677																																																	0													62	58	59					19																	7696665		2202	4290	6492	SO:0001819	synonymous_variant	126006			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.321C>G	19.37:g.7696665G>C			M0R2R7|Q3KRG7	Silent	SNP	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.L107	ENST00000311069.5	37	c.321	CCDS32893.1	19																																																																																			PCP2	-	NULL		0.677	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	HGNC	protein_coding	OTTHUMT00000461026.2	G	XM_058956		7696665	-1	no_errors	ENST00000311069	ensembl	human	known	70_37	silent	SNP	1.000	C	C	7696665	G	C	7696665	2	2	56	1	0	0	0	0	0	0	0	1	11621	1277	45	1		1	PCP2	19	7696665	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09		7696665	51432318	128	7675										
UPF1	5976	genome.wustl.edu	37	chr19	18976135	18976135	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tacttccagacccatgaccaGattggcatgatcagtgccgg	10	12	1	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr19:18976135G>C	ENST00000599848.1	+	21	3137	c.2928G>C	c.(2926-2928)caG>caC	p.Q976H	UPF1_ENST00000262803.5_Missense_Mutation_p.Q965H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	976					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCCATGACCAGATTGGCATGA	0.587																																																	0													61	48	52					19																	18976135		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2928G>C	19.37:g.18976135G>C	ENSP00000470142:p.Gln976His		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.Q976H	ENST00000599848.1	37	c.2928		19	.	.	.	.	.	.	.	.	.	.	g	15.29	2.790974	0.50102	.	.	ENSG00000005007	ENST00000262803	D	0.89746	-2.56	4.87	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	L	0.34521	1.04	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.76961	-0.2765	10	0.45353	T	0.12	-32.5035	11.0668	0.47980	0.097:0.0:0.903:0.0	.	976;965	Q92900;Q92900-2	RENT1_HUMAN;.	H	965	ENSP00000262803:Q965H	ENSP00000262803:Q965H	Q	+	3	2	UPF1	18837135	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	6.380000	0.73158	1.008000	0.39264	0.550000	0.68814	CAG	UPF1	-	NULL		0.587	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	G	NM_002911		18976135	1	no_errors	ENST00000599848	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18976135	G	C	18976135	3	2	56	1	0	0	0	0	1	0	0	0	17034	933	33	1	2977	1	UPF1	19	18976135	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	11279470	18976135	40152848	129	7676										
PEPD	5184	genome.wustl.edu	37	chr19	33904546	33904546	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gagtagcagtagtgctcgaaGaggctgcagggggagagacg	19	6	0	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr19:33904546G>A	ENST00000244137.7	-	10	708	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PEPD_ENST00000436370.3_Silent_p.L161L|PEPD_ENST00000397032.4_Silent_p.L184L	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	225					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AGTGCTCGAAGAGGCTGCAGG	0.682																																																	0													23	32	29					19																	33904546		2113	4214	6327	SO:0001819	synonymous_variant	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.675C>T	19.37:g.33904546G>A			A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.L225	ENST00000244137.7	37	c.675	CCDS42544.1	19																																																																																			PEPD	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.682	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	G	NM_000285		33904546	-1	no_errors	ENST00000244137	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33904546	G	A	33904546	2	1	56	1	0	0	0	0	0	0	0	1	11752	929	33	1		1	PEPD	19	33904546	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	14928411	33904546	25224437	130	7677										
PNMAL1	55228	genome.wustl.edu	37	chr19	46974175	46974175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gaccccattcaaggtctcctCaatttctgcctgcccacagt	6	16	4	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr19:46974175C>G	ENST00000313683.10	-	2	423	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	PNMAL1_ENST00000602246.1_Missense_Mutation_p.E40Q|PNMAL1_ENST00000438932.2_Missense_Mutation_p.E40Q	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	40										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		aaggtctcctcaatttctgcc	0.537																																																	0													80	68	72					19																	46974175		2203	4300	6503	SO:0001583	missense	55228			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.118G>C	19.37:g.46974175C>G	ENSP00000318131:p.Glu40Gln		A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	NULL	p.E40Q	ENST00000313683.10	37	c.118	CCDS33059.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742600	0.69418	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.10573	2.86;2.86	3.94	3.94	0.45596	.	0.000000	0.41396	D	0.000895	T	0.19644	0.0472	L	0.35644	1.08	0.32221	N	0.575195	D;D	0.89917	1.0;0.987	D;D	0.83275	0.996;0.927	T	0.02533	-1.1145	10	0.21014	T	0.42	-19.8272	11.7787	0.52001	0.0:1.0:0.0:0.0	.	40;40	Q86V59-2;Q86V59	.;PNML1_HUMAN	Q	40	ENSP00000410273:E40Q;ENSP00000318131:E40Q	ENSP00000318131:E40Q	E	-	1	0	PNMAL1	51666015	0.953000	0.32496	0.943000	0.38184	0.961000	0.63080	2.094000	0.41719	2.491000	0.84063	0.655000	0.94253	GAG	PNMAL1	-	NULL		0.537	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1	C	NM_018215		46974175	-1	no_errors	ENST00000313683	ensembl	human	known	70_37	missense	SNP	0.944	G	G	46974175	C	G	46974175	3	3	56	1	0	0	0	0	1	0	0	0	12181	835	29	1	1231	1	PNMAL1	19	46974175	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	13069629	46974175	12154808	131	7678										
EHD2	30846	genome.wustl.edu	37	chr19	48244378	48244378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gcgaggagggctcggacgacGaggccgagtgggtggtgacc	21	9	0	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr19:48244378G>A	ENST00000263277.3	+	6	1572	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.E305K	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	441					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTCGGACGACGAGGCCGAGTG	0.657																																																	0													76	63	67					19																	48244378		2203	4299	6502	SO:0001583	missense	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1321G>A	19.37:g.48244378G>A	ENSP00000263277:p.Glu441Lys		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.E441K	ENST00000263277.3	37	c.1321	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597401	0.46318	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	T;T	0.23348	2.23;1.91	4.13	4.13	0.48395	EF-hand-like domain (1);	0.279758	0.33040	N	0.005353	T	0.20659	0.0497	L	0.37697	1.125	0.80722	D	1	B	0.21452	0.056	B	0.20384	0.029	T	0.04467	-1.0949	9	.	.	.	-19.3214	14.267	0.66126	0.0:0.0:1.0:0.0	.	441	Q9NZN4	EHD2_HUMAN	K	441;431;305;124	ENSP00000263277:E441K;ENSP00000439036:E305K	.	E	+	1	0	EHD2	52936190	1.000000	0.71417	0.975000	0.42487	0.093000	0.18481	7.227000	0.78070	2.024000	0.59613	0.561000	0.74099	GAG	EHD2	-	NULL		0.657	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	G			48244378	1	no_errors	ENST00000263277	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48244378	G	A	48244378	3	1	56	1	0	0	0	0	1	0	0	0	4988	1059	37	1	1339	1	EHD2	19	48244378	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	1270203	48244378	10884605	132	7679										
RALGAPB	57148	genome.wustl.edu	37	chr20	37182681	37182681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tccaaacagcccgcctttttCtctcacactttggatttttg	5	13	2	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr20:37182681C>G	ENST00000262879.6	+	22	3618	c.3334C>G	c.(3334-3336)Ctc>Gtc	p.L1112V	RALGAPB_ENST00000397038.1_Missense_Mutation_p.L890V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.L1112V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L1108V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1112					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCGCCTTTTTCTCTCACACTT	0.423																																																	0													82	87	85					20																	37182681		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3334C>G	20.37:g.37182681C>G	ENSP00000262879:p.Leu1112Val		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L1112V	ENST00000262879.6	37	c.3334	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246462	0.80024	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.76170	2.325	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.80764	0.994;0.994	D	0.96725	0.9535	10	0.72032	D	0.01	.	19.6277	0.95684	0.0:1.0:0.0:0.0	.	1108;1112	A2A2E9;Q86X10	.;RLGPB_HUMAN	V	1112;1108;890;1112;940	ENSP00000262879:L1112V;ENSP00000380235:L1108V;ENSP00000380231:L890V;ENSP00000380233:L1112V;ENSP00000416646:L940V	ENSP00000262879:L1112V	L	+	1	0	RALGAPB	36616095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.757000	0.68766	2.648000	0.89879	0.650000	0.86243	CTC	RALGAPB	-	NULL		0.423	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	C	NM_020336		37182681	1	no_errors	ENST00000262879	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37182681	C	G	37182681	3	3	56	1	0	0	0	0	1	0	0	0	13045	913	32	1	3416	1	RALGAPB	20	37182681	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		37182681	25842839	133	7680										
CDH22	64405	genome.wustl.edu	37	chr20	44869843	44869843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	aagatggtcccagcaccctcGcctgagatggtgtacttgat	11	11	0	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr20:44869843G>A	ENST00000372262.3	-	2	709	c.309C>T	c.(307-309)ggC>ggT	p.G103G	CDH22_ENST00000537909.1_Silent_p.G103G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCACCCTCGCCTGAGATGG	0.597																																																	0													73	62	66					20																	44869843		2203	4300	6503	SO:0001819	synonymous_variant	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.309C>T	20.37:g.44869843G>A			B9EGK7|O43205	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G103	ENST00000372262.3	37	c.309	CCDS13395.1	20																																																																																			CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	G	NM_021248		44869843	-1	no_errors	ENST00000372262	ensembl	human	known	70_37	silent	SNP	0.958	A	A	44869843	G	A	44869843	2	1	56	1	0	0	0	0	0	0	0	1	3112	1074	38	2		2	CDH22	20	44869843	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	7687162	44869843	18155677	134	7681										
PRIC285	85441	genome.wustl.edu	37	chr20	62196884	62196884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	agggactcgggcctggcgacAgtgtccagcagcccgtcctc	14	15	0	0	rs310633	byFrequency	TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr20:62196884A>G	ENST00000467148.1	-	8	3360	c.3291T>C	c.(3289-3291)acT>acC	p.T1097T	HELZ2_ENST00000427522.2_Silent_p.T528T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1097					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCTGGCGACAGTGTCCAGCA	0.697													G|||	4880	0.974441	0.997	0.9481	5008	,	,		15643	0.999		0.9235	False		,,,				2504	0.9898																0								G	,	4315,61		2127,61,0	23	19	20		3291,1584	-9.3	0	20	dbSNP_79	20	7994,592		3728,538,27	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	5855,599,27	GG,GA,AA		6.8949,1.394,5.0378	,	1097/2650,528/2081	62196884	12309,653	2188	4293	6481	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3291T>C	20.37:g.62196884A>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.T1097	ENST00000467148.1	37	c.3291	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	A	NM_001037335		62196884	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.000	G	G	62196884	A	G	62196884	2	3	56	1	0	0	0	0	0	0	0	1	12512	175	7	5		5	PRIC285	20	62196884	Silent	SNP	A	TCGA-DG-A2KM-01A-11D-A17W-09	17327041	62196884	828636	135	7682										
CABIN1	23523	genome.wustl.edu	37	chr22	24487584	24487584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gagacagccaagcactgtttCacatcagcagcccgctgcga	10	14	2	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr22:24487584C>G	ENST00000398319.2	+	24	3958	c.3573C>G	c.(3571-3573)ttC>ttG	p.F1191L	CABIN1_ENST00000263119.5_Missense_Mutation_p.F1191L|CABIN1_ENST00000405822.2_Missense_Mutation_p.F1141L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1191					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCACTGTTTCACATCAGCAG	0.607																																																	0													85	74	78					22																	24487584		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3573C>G	22.37:g.24487584C>G	ENSP00000381364:p.Phe1191Leu		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F1191L	ENST00000398319.2	37	c.3573	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989049	0.35131	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.29655	1.56;1.56;1.56	4.46	2.34	0.29019	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	M	0.73962	2.25	0.80722	D	1	P;P	0.47106	0.89;0.824	B;B	0.40677	0.337;0.182	T	0.11767	-1.0574	10	0.40728	T	0.16	.	9.6956	0.40156	0.0:0.7556:0.0:0.2444	.	1141;1191	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	L	1191;1141;1191	ENSP00000263119:F1191L;ENSP00000384694:F1141L;ENSP00000381364:F1191L	ENSP00000263119:F1191L	F	+	3	2	CABIN1	22817584	1.000000	0.71417	0.705000	0.30386	0.166000	0.22503	1.917000	0.39996	0.602000	0.29896	0.650000	0.86243	TTC	CABIN1	-	NULL		0.607	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	C	NM_012295		24487584	1	no_errors	ENST00000263119	ensembl	human	known	70_37	missense	SNP	0.999	G	G	24487584	C	G	24487584	3	3	56	1	0	0	0	0	1	0	0	0	2533	825	29	1	3663	1	CABIN1	22	24487584	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		24487584	26816982	136	7683										
NEFH	4744	genome.wustl.edu	37	chr22	29879485	29879485	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	accacagagctggaggcactGaaaagcaccaaggactcact	10	12	1	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr22:29879485G>A	ENST00000310624.6	+	2	1038	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	335	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L335L(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGGAGGCACTGAAAAGCACCA	0.612																																																	1	Substitution - coding silent(1)	lung(1)											109	88	95					22																	29879485		2203	4300	6503	SO:0001819	synonymous_variant	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1005G>A	22.37:g.29879485G>A			B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	pfam_F,pfam_DUF1388	p.L335	ENST00000310624.6	37	c.1005	CCDS13858.1	22																																																																																			NEFH	-	pfam_F		0.612	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29879485	1	no_errors	ENST00000310624	ensembl	human	known	70_37	silent	SNP	0.993	A	A	29879485	G	A	29879485	2	1	56	1	0	0	0	0	0	0	0	1	10338	1277	45	1		1	NEFH	22	29879485	Silent	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	5391901	29879485	21425081	137	7684										
C1QTNF6	114904	genome.wustl.edu	37	chr22	37578303	37578303	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tcgttgctgtagatggcgttCtcgcgctggcgcttgaagag	15	9	1	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chr22:37578303C>T	ENST00000337843.2	-	3	837	c.762G>A	c.(760-762)gaG>gaA	p.E254E	C1QTNF6_ENST00000255836.6_Silent_p.E130E|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.E254E	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	235	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AGATGGCGTTCTCGCGCTGGC	0.652																																																	0													80	71	74					22																	37578303		2203	4300	6503	SO:0001819	synonymous_variant	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.762G>A	22.37:g.37578303C>T			Q5H9G8|Q6ZRM7	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E254	ENST00000337843.2	37	c.762	CCDS13943.1	22																																																																																			C1QTNF6	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.652	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	C	NM_182486		37578303	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37578303	C	T	37578303	2	4	56	1	0	0	0	0	0	0	0	1	1972	912	32	1		1	C1QTNF6	22	37578303	Silent	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	7698818	37578303	13726263	138	7685										
FANCB	2187	genome.wustl.edu	37	chrX	14883161	14883161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tgacacactaacaactttgcCagtttgagaagagataaaga	8	7	0	4			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chrX:14883161C>T	ENST00000324138.3	-	2	625	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	FANCB_ENST00000398334.1_Missense_Mutation_p.G158S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	158					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACAACTTTGCCAGTTTGAGAA	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													72	71	71					X																	14883161		2203	4299	6502	SO:0001583	missense	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.472G>A	X.37:g.14883161C>T	ENSP00000326819:p.Gly158Ser		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.G158S	ENST00000324138.3	37	c.472	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.126516	0.01770	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.34667	1.35;1.35;1.35	5.52	-0.501	0.12008	.	0.982723	0.08347	N	0.959848	T	0.15305	0.0369	N	0.05383	-0.06	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.26710	-1.0095	10	0.20046	T	0.44	1.2132	2.707	0.05165	0.0989:0.3719:0.2852:0.244	.	158	Q8NB91	FANCB_HUMAN	S	158	ENSP00000326819:G158S;ENSP00000381378:G158S;ENSP00000397849:G158S	ENSP00000326819:G158S	G	-	1	0	FANCB	14793082	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.817000	0.04472	-0.525000	0.06391	-0.994000	0.02522	GGC	FANCB	-	NULL		0.388	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	C	NM_152633		14883161	-1	no_errors	ENST00000324138	ensembl	human	known	70_37	missense	SNP	0.001	T	T	14883161	C	T	14883161	3	4	56	1	0	0	0	0	1	0	0	0	5681	594	21	4	2139	4	FANCB	23	14883161	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09		14883161	140387399	139	7686										
ZNF645	158506	genome.wustl.edu	37	chrX	22291649	22291649	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	gggaccatctaagctatattCcaccagaacagcacaccatg	7	13	1	1			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chrX:22291649C>G	ENST00000323684.1	+	1	585	c.541C>G	c.(541-543)Cca>Gca	p.P181A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	181					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAGCTATATTCCACCAGAACA	0.473																																																	0													134	109	118					X																	22291649		2203	4300	6503	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.541C>G	X.37:g.22291649C>G	ENSP00000323348:p.Pro181Ala		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.P181A	ENST00000323684.1	37	c.541	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	C	8.718	0.913568	0.17907	.	.	ENSG00000175809	ENST00000323684	T	0.33865	1.39	3.42	1.64	0.23874	.	0.363846	0.22557	U	0.058514	T	0.40196	0.1107	L	0.45137	1.4	0.09310	N	1	D	0.54207	0.965	P	0.58077	0.832	T	0.13098	-1.0522	10	0.41790	T	0.15	.	6.8217	0.23861	0.0:0.7477:0.0:0.2523	.	181	Q8N7E2	ZN645_HUMAN	A	181	ENSP00000323348:P181A	ENSP00000323348:P181A	P	+	1	0	ZNF645	22201570	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.912000	0.28597	0.314000	0.23086	-0.191000	0.12829	CCA	ZNF645	-	NULL		0.473	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	HGNC	protein_coding	OTTHUMT00000056037.1	C	NM_152577		22291649	1	no_errors	ENST00000323684	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22291649	C	G	22291649	3	3	56	1	0	0	0	0	1	0	0	0	18091	855	30	1	543	1	ZNF645	23	22291649	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	7408488	22291649	132978911	140	7687										
CCNB3	85417	genome.wustl.edu	37	chrX	50052361	50052361	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ctgaggggaagaggtcccgtCtgaagccattagtattgcag	14	8	1	3			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chrX:50052361C>G	ENST00000376042.1	+	6	1490	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L398V|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	398					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGGTCCCGTCTGAAGCCATT	0.468																																																	0													73	64	67					X																	50052361		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1192C>G	X.37:g.50052361C>G	ENSP00000365210:p.Leu398Val		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.L398V	ENST00000376042.1	37	c.1192	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	9.598	1.127826	0.20959	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.38887	1.11;1.11	2.43	-4.87	0.03123	.	1024.720000	0.00166	N	0.000000	T	0.34279	0.0892	M	0.65498	2.005	0.09310	N	1	B	0.29862	0.259	B	0.26614	0.071	T	0.07366	-1.0776	9	.	.	.	.	0.2783	0.00241	0.339:0.2651:0.1704:0.2255	.	398	Q8WWL7	CCNB3_HUMAN	V	398	ENSP00000365210:L398V;ENSP00000276014:L398V	.	L	+	1	2	CCNB3	50069101	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.237000	0.08990	-1.606000	0.01591	-0.533000	0.04299	CTG	CCNB3	-	NULL		0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	C			50052361	1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.000	G	G	50052361	C	G	50052361	3	3	56	1	0	0	0	0	1	0	0	0	2919	912	32	1	1206	1	CCNB3	23	50052361	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	27760712	50052361	105218199	141	7688										
XKRX	402415	genome.wustl.edu	37	chrX	100177950	100177950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	ccattctatcagcacctcctCgccatctattagcatcttct	3	16	5	0			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chrX:100177950C>T	ENST00000372956.2	-	2	1040	c.436G>A	c.(436-438)Gag>Aag	p.E146K	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000328526.5_Missense_Mutation_p.E159K			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AGCACCTCCTCGCCATCTATT	0.532																																																	0													188	159	169					X																	100177950		2203	4300	6503	SO:0001583	missense	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.436G>A	X.37:g.100177950C>T	ENSP00000362047:p.Glu146Lys		B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.E159K	ENST00000372956.2	37	c.475	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157745	0.38119	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.63255	-0.03;-0.02	5.93	-1.18	0.09617	.	0.790735	0.12176	N	0.492570	T	0.38957	0.1060	N	0.14661	0.345	0.18873	N	0.999989	B	0.25441	0.126	B	0.19391	0.025	T	0.18713	-1.0328	10	0.29301	T	0.29	-1.1008	9.0848	0.36574	0.0985:0.2891:0.54:0.0723	.	146	Q6PP77	XKR2_HUMAN	K	159;146	ENSP00000327570:E159K;ENSP00000362047:E146K	ENSP00000327570:E159K	E	-	1	0	XKRX	100064606	0.063000	0.20901	0.993000	0.49108	0.993000	0.82548	0.677000	0.25262	-0.060000	0.13132	-0.368000	0.07277	GAG	XKRX	-	pfam_Transport_prot_XK		0.532	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	C	NM_212559		100177950	-1	no_errors	ENST00000328526	ensembl	human	known	70_37	missense	SNP	0.319	T	T	100177950	C	T	100177950	3	4	56	1	0	0	0	0	1	0	0	0	17470	893	31	1	921	1	XKRX	23	100177950	Missense_Mutation	SNP	C	TCGA-DG-A2KM-01A-11D-A17W-09	50125589	100177950	55092610	142	7689										
CUL4B	8450	genome.wustl.edu	37	chrX	119678052	119678052	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.584507042253521	83	8.41866610511316e-32	3.96770025839793	5.02820512820513	2.890625	0.000690844928088613	0.00496384874256263	62	tcgttgttcaaaagaatcttGataaatctggagggggaaca	11	5	3	2			TCGA-DG-A2KM-01A-11D-A17W-09	TCGA-DG-A2KM-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b1c779c-a2a3-46f1-bbea-845afa302761	83a1e958-4f39-443b-a1b1-4712d0460aa0	g.chrX:119678052G>C	ENST00000404115.3	-	9	1545	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	snoU13_ENST00000605987.1_RNA|CUL4B_ENST00000336592.6_Missense_Mutation_p.Q369E|CUL4B_ENST00000371322.5_Missense_Mutation_p.Q364E	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	382					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAGAATCTTGATAAATCTGG	0.323																																																	0													58	49	52					X																	119678052		2201	4299	6500	SO:0001583	missense	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1144C>G	X.37:g.119678052G>C	ENSP00000384109:p.Gln382Glu		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q382E	ENST00000404115.3	37	c.1144	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457861	0.26161	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.74	5.74	0.90152	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	N	0.13168	0.305	0.80722	D	1	B;B;B	0.16166	0.0;0.016;0.013	B;B;B	0.17433	0.0;0.018;0.01	T	0.51348	-0.8717	9	.	.	.	-11.0531	17.7661	0.88478	0.0:0.0:1.0:0.0	.	186;382;364	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	E	364;369;382;186	ENSP00000360373:Q364E;ENSP00000338919:Q369E;ENSP00000384109:Q382E;ENSP00000360374:Q186E	.	Q	-	1	0	CUL4B	119562080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.415000	0.81967	0.600000	0.82982	CAA	CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.323	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	G	NM_003588		119678052	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119678052	G	C	119678052	3	2	56	1	0	0	0	0	1	0	0	0	4063	1299	45	1	1653	1	CUL4B	23	119678052	Missense_Mutation	SNP	G	TCGA-DG-A2KM-01A-11D-A17W-09	19500102	119678052	35592508	143	7690										
NPHP4	261734	genome.wustl.edu	37	chr1	5937208	5937208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	cggcctcctgcaggcgcacaGacctcatccgctccagctta	9	18	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:5937208G>A	ENST00000378156.4	-	20	3027	c.2762C>T	c.(2761-2763)tCt>tTt	p.S921F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	921					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.S921F(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCGCACAGACCTCATCCG	0.667																																																	1	Substitution - Missense(1)	cervix(1)											17	20	19					1																	5937208		2089	4199	6288	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2762C>T	1.37:g.5937208G>A	ENSP00000367398:p.Ser921Phe		Q8IWC0	Missense_Mutation	SNP	NULL	p.S921F	ENST00000378156.4	37	c.2762	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082721	0.36758	.	.	ENSG00000131697	ENST00000378156	D	0.86956	-2.19	5.11	4.18	0.49190	.	0.613686	0.14416	N	0.320974	D	0.84383	0.5460	L	0.47716	1.5	0.09310	N	1	P	0.50443	0.935	P	0.46275	0.51	T	0.73464	-0.3974	10	0.30854	T	0.27	.	10.5106	0.44860	0.0971:0.0:0.9029:0.0	.	921	O75161	NPHP4_HUMAN	F	921	ENSP00000367398:S921F	ENSP00000367398:S921F	S	-	2	0	NPHP4	5859795	0.035000	0.19736	0.017000	0.16124	0.047000	0.14425	2.207000	0.42788	1.128000	0.42052	0.462000	0.41574	TCT	NPHP4	-	NULL		0.667	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	G			5937208	-1	no_errors	ENST00000378156	ensembl	human	known	70_37	missense	SNP	0.034	A	A	5937208	G	A	5937208	3	1	57	1	0	0	0	0	1	0	0	0	10605	942	33	1	1562	1	NPHP4	1	5937208	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		5937208	243313413	1	7691										
TIE1	7075	genome.wustl.edu	37	chr1	43779034	43779034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gcgctacctcttccgcatgcGggccagcattcaggggctcg	13	15	2	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:43779034G>A	ENST00000372476.3	+	13	2235	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R364Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	719	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R719Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCGCATGCGGGCCAGCATT	0.647																																																	1	Substitution - Missense(1)	cervix(1)											113	103	106					1																	43779034		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2156G>A	1.37:g.43779034G>A	ENSP00000361554:p.Arg719Gln		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R719Q	ENST00000372476.3	37	c.2156	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593865	0.66219	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.55588	0.51;0.51	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36374	N	0.002635	T	0.66906	0.2837	L	0.47716	1.5	0.54753	D	0.999988	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	P;D;D;D;D	0.73380	0.834;0.964;0.98;0.924;0.98	T	0.60561	-0.7239	10	0.27785	T	0.31	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	364;674;719;364;719	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	Q	719;122;2;364	ENSP00000361554:R719Q;ENSP00000411728:R364Q	ENSP00000361553:R122Q	R	+	2	0	TIE1	43551621	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.644000	0.83416	2.618000	0.88619	0.655000	0.94253	CGG	TIE1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43779034	1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43779034	G	A	43779034	3	1	57	1	0	0	0	0	1	0	0	0	15923	1116	39	2	2206	2	TIE1	1	43779034	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	37841826	43779034	205471587	2	7692										
MNDA	4332	genome.wustl.edu	37	chr1	158815714	158815714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	aaacagaattatcgaaatagCaaataaaactcccaagatca	4	8	1	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:158815714C>G	ENST00000368141.4	+	5	1169	c.908C>G	c.(907-909)gCa>gGa	p.A303G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	303	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A303G(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATCGAAATAGCAAATAAAACT	0.333																																																	1	Substitution - Missense(1)	cervix(1)											66	70	69					1																	158815714		2203	4300	6503	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.908C>G	1.37:g.158815714C>G	ENSP00000357123:p.Ala303Gly			Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.A303G	ENST00000368141.4	37	c.908	CCDS1177.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.396296|3.396296	0.62177|0.62177	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000368141|ENST00000438394	T|.	0.49432|.	0.78|.	4.28|4.28	4.28|4.28	0.50868|0.50868	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	0.000000|.	0.38605|.	N|.	0.001633|.	T|T	0.57755|0.57755	0.2075|0.2075	M|M	0.83223|0.83223	2.63|2.63	0.30839|0.30839	N|N	0.735834|0.735834	D|.	0.76494|.	0.999|.	D|.	0.70016|.	0.967|.	T|T	0.57585|0.57585	-0.7786|-0.7786	10|5	0.72032|.	D|.	0.01|.	-16.4024|-16.4024	12.4097|12.4097	0.55459|0.55459	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	303|.	P41218|.	MNDA_HUMAN|.	G|R	303|8	ENSP00000357123:A303G|.	ENSP00000357123:A303G|.	A|S	+|+	2|3	0|2	MNDA|MNDA	157082338|157082338	0.723000|0.723000	0.28027|0.28027	0.639000|0.639000	0.29394|0.29394	0.023000|0.023000	0.10783|0.10783	2.898000|2.898000	0.48672|0.48672	2.352000|2.352000	0.79861|0.79861	0.655000|0.655000	0.94253|0.94253	GCA|AGC	MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.333	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	C	NM_002432		158815714	1	no_errors	ENST00000368141	ensembl	human	known	70_37	missense	SNP	0.719	G	G	158815714	C	G	158815714	3	3	57	1	0	0	0	0	1	0	0	0	9699	710	25	4	922	4	MNDA	1	158815714	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	115036680	158815714	90434907	3	7693										
ASTN1	460	genome.wustl.edu	37	chr1	176863936	176863936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gcaccttggggtctctttccCgctcctcagactcatctgat	8	15	4	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:176863936C>T	ENST00000367654.3	-	17	2937	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q	ASTN1_ENST00000367657.3_Missense_Mutation_p.R901Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R901Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R901Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	909					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R901Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTCTTTCCCGCTCCTCAGA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											110	111	110					1																	176863936		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2726G>A	1.37:g.176863936C>T	ENSP00000356626:p.Arg909Gln		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.R909Q	ENST00000367654.3	37	c.2726		1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435796	0.62955	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14391	2.51;2.92;2.92;2.51	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	L	0.40543	1.245	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.00920	-1.1514	10	0.59425	D	0.04	-27.2066	18.8334	0.92150	0.0:1.0:0.0:0.0	.	901;901	O14525-2;B1AJS1	.;.	Q	901;901;909;901;901	ENSP00000356629:R901Q;ENSP00000354536:R901Q;ENSP00000356626:R909Q;ENSP00000395041:R901Q	ENSP00000354536:R901Q	R	-	2	0	ASTN1	175130559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.355000	0.66046	2.640000	0.89533	0.655000	0.94253	CGG	ASTN1	-	smart_MACPF		0.532	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		C	NM_004319		176863936	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176863936	C	T	176863936	3	4	57	1	0	0	0	0	1	0	0	0	1065	652	23	2	1214	2	ASTN1	1	176863936	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	18048222	176863936	72386685	4	7694										
ASAP2	8853	genome.wustl.edu	37	chr2	9528642	9528643	+	Frame_Shift_Ins	INS	-	-	C													0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agcccccagcaccaccagcgINScccccccgcttcctccacgg					rs376816649		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr2:9528642_9528643insC	ENST00000281419.3	+	22	2690_2691	c.2350_2351insC	c.(2350-2352)gccfs	p.A784fs	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.A784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CACCACCAGCGCCCCCCCGCTT	0.579																																																	0									,	9,4257		0,9,2124					,	5.6	1			28	12,8240		0,12,4114	no	frameshift,frameshift	ASAP2	NM_003887.2,NM_001135191.1	,	0,21,6238	A1A1,A1R,RR		0.1454,0.211,0.1678	,	,		21,12497				SO:0001589	frameshift_variant	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2357dupC	2.37:g.9528649_9528649dupC	ENSP00000281419:p.Ala784fs		D6W4Y8	Frame_Shift_Ins	INS	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.L787fs	ENST00000281419.3	37	c.2350_2351	CCDS1661.1	2																																																																																			ASAP2	-	NULL		0.579	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	NM_003887		9528643	1	no_errors	ENST00000281419	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	9528643	-	C	9528642	7	5	57	1	0	1	1	0	0	0	0	0	1012	1087	38	0	2436	0	ASAP2	2	9528642	Frame_Shift_Ins	INS	-	TCGA-DR-A0ZL-01A-11D-A10S-08		9528642	233670731	5	7695										
SNRNP27	11017	genome.wustl.edu	37	chr2	70122315	70122315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agagagatcggagaaggagcCgctcgcgatccccgcaccga	14	13	0	3	rs143382169		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr2:70122315C>T	ENST00000244227.3	+	2	549	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R42C	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	42	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R42C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAGAAGGAGCCGCTCGCGATC	0.557																																																	1	Substitution - Missense(1)	cervix(1)											41	47	45					2																	70122315		2203	4300	6503	SO:0001583	missense	11017			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.124C>T	2.37:g.70122315C>T	ENSP00000244227:p.Arg42Cys		Q15410	Missense_Mutation	SNP	pfam_DUF1777	p.R42C	ENST00000244227.3	37	c.124	CCDS33219.1	2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685174	0.68157	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.61859	0.07;0.07	4.22	4.22	0.49857	Domain of unknown function DUF1777 (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.965	T	0.80957	-0.1150	10	0.72032	D	0.01	.	14.454	0.67404	0.0:1.0:0.0:0.0	.	42;42	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	C	42	ENSP00000244227:R42C;ENSP00000386608:R42C	ENSP00000244227:R42C	R	+	1	0	SNRNP27	69975819	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.166000	0.58203	2.335000	0.79485	0.462000	0.41574	CGC	SNRNP27	-	pfam_DUF1777		0.557	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	C	NM_006857		70122315	1	no_errors	ENST00000244227	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70122315	C	T	70122315	3	4	57	1	0	0	0	0	1	0	0	0	14884	652	23	2	130	2	SNRNP27	2	70122315	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	60593673	70122315	173077058	6	7696										
TTN	7273	genome.wustl.edu	37	chr2	179404687	179404687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	tttcatcaagttcataatcaGgatattctggaaaaaaaggt	7	5	5	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr2:179404687G>A	ENST00000591111.1	-	302	93406	c.93182C>T	c.(93181-93183)cCt>cTt	p.P31061L	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32702L|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30134L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23829L|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23762L|TTN_ENST00000460472.2_Missense_Mutation_p.P23637L|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31061	Ig-like 139.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P30132L(1)|p.P23762L(1)|p.P30134L(1)|p.P23637L(1)|p.P23829L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATAATCAGGATATTCTGG	0.368																																																	5	Substitution - Missense(5)	cervix(5)											83	77	79					2																	179404687		1857	4103	5960	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93182C>T	2.37:g.179404687G>A	ENSP00000465570:p.Pro31061Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P30134L	ENST00000591111.1	37	c.90401		2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013924	0.75161	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;D;T;D	0.89196	-0.8;-2.45;-1.4;-2.48	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.96253	0.8778	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.96083	0.9055	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23637;23762;23829;31061	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	30134;23637;23829;23762;23634	ENSP00000343764:P30134L;ENSP00000434586:P23637L;ENSP00000340554:P23829L;ENSP00000352154:P23762L	ENSP00000340554:P23829L	P	-	2	0	TTN	179112933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179404687	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179404687	G	A	179404687	3	1	57	1	0	0	0	0	1	0	0	0	16766	1000	35	4	9918	4	TTN	2	179404687	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	109282372	179404687	63794686	7	7697										
CHDH	55349	genome.wustl.edu	37	chr3	53853588	53853588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctcctgctgggtggggacccGcccgtggtcaatcacttggg	15	13	2	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr3:53853588G>A	ENST00000315251.6	-	7	1671	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	412					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.R412W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GTGGGGACCCGCCCGTGGTCA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											72	79	77					3																	53853588		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1234C>T	3.37:g.53853588G>A	ENSP00000319851:p.Arg412Trp		Q9NY17	Missense_Mutation	SNP	pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.R412W	ENST00000315251.6	37	c.1234	CCDS2873.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547919	0.86022	.	.	ENSG00000016391	ENST00000315251	T	0.45668	0.89	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.69209	-0.5205	10	0.72032	D	0.01	-47.8521	17.8535	0.88755	0.0:0.0:1.0:0.0	.	412	Q8NE62	CHDH_HUMAN	W	412	ENSP00000319851:R412W	ENSP00000319851:R412W	R	-	1	2	CHDH	53828628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.286000	0.65639	2.668000	0.90789	0.563000	0.77884	CGG	CHDH	-	pirsf_GMC_OxRdtase		0.612	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	HGNC	protein_coding	OTTHUMT00000350567.2	G	NM_018397		53853588	-1	no_errors	ENST00000315251	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53853588	G	A	53853588	3	1	57	1	0	0	0	0	1	0	0	0	3338	1086	38	2	562	2	CHDH	3	53853588	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		53853588	144168842	8	7698										
ZIC1	7545	genome.wustl.edu	37	chr3	147128284	147128284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctgcatcggccgggggcttcGggggcccacacggccacacg	16	16	0	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr3:147128284G>A	ENST00000282928.4	+	1	1114	c.385G>A	c.(385-387)Ggg>Agg	p.G129R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	129					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G129W(1)|p.G129R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGGGGCTTCGGGGGCCCACA	0.716																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											11	14	13					3																	147128284		2133	4234	6367	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.385G>A	3.37:g.147128284G>A	ENSP00000282928:p.Gly129Arg		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G129R	ENST00000282928.4	37	c.385	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002976	0.54254	.	.	ENSG00000152977	ENST00000282928	T	0.34667	1.35	3.34	3.34	0.38264	.	0.120868	0.53938	D	0.000050	T	0.22126	0.0533	N	0.14661	0.345	0.47476	D	0.999437	B	0.09022	0.002	B	0.08055	0.003	T	0.04946	-1.0916	10	0.22109	T	0.4	.	15.1964	0.73092	0.0:0.0:1.0:0.0	.	129	Q15915	ZIC1_HUMAN	R	129	ENSP00000282928:G129R	ENSP00000282928:G129R	G	+	1	0	ZIC1	148610974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.517000	0.60503	1.878000	0.54408	0.542000	0.68232	GGG	ZIC1	-	NULL		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	G	NM_003412		147128284	1	no_errors	ENST00000282928	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147128284	G	A	147128284	3	1	57	1	0	0	0	0	1	0	0	0	17708	1116	39	2	387	2	ZIC1	3	147128284	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	93274696	147128284	50894146	9	7699										
SLC7A14	57709	genome.wustl.edu	37	chr3	170244566	170244566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agagatgaggtccactgtggTgagtacctgggctagcttag	15	7	0	3			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr3:170244566T>C	ENST00000231706.5	-	2	475	c.160A>G	c.(160-162)Acc>Gcc	p.T54A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	54					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.T54A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCACTGTGGTGAGTACCTGG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											264	198	221					3																	170244566		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.160A>G	3.37:g.170244566T>C	ENSP00000231706:p.Thr54Ala		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.T54A	ENST00000231706.5	37	c.160	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081745	0.55861	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	4.99	3.79	0.43588	.	0.102906	0.64402	D	0.000002	D	0.90964	0.7159	M	0.86502	2.82	0.45883	D	0.998732	P	0.36412	0.552	B	0.42462	0.388	D	0.89593	0.3829	10	0.52906	T	0.07	.	11.066	0.47976	0.1393:0.0:0.0:0.8607	.	54	Q8TBB6	S7A14_HUMAN	A	54	ENSP00000231706:T54A	ENSP00000231706:T54A	T	-	1	0	SLC7A14	171727260	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.166000	0.50785	0.798000	0.33994	0.459000	0.35465	ACC	SLC7A14	-	NULL		0.572	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	T	NM_020949		170244566	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170244566	T	C	170244566	3	2	57	1	0	0	0	0	1	0	0	0	14726	1696	59	5	2183	5	SLC7A14	3	170244566	Missense_Mutation	SNP	T	TCGA-DR-A0ZL-01A-11D-A10S-08	23116282	170244566	27777864	10	7700										
TRPC3	7222	genome.wustl.edu	37	chr4	122835998	122835998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	aggcccagggccacgaccagCacaacgagacacttgatagc	11	14	0	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr4:122835998C>A	ENST00000379645.3	-	4	1351	c.1278G>T	c.(1276-1278)gtG>gtT	p.V426V	TRPC3_ENST00000264811.5_Silent_p.V353V|TRPC3_ENST00000513531.1_Intron	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	341					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.V353V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACGACCAGCACAACGAGAC	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											133	97	109					4																	122835998		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1278G>T	4.37:g.122835998C>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V426	ENST00000379645.3	37	c.1278	CCDS47130.1	4																																																																																			TRPC3	-	tigrfam_TRP_channel		0.542	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122835998	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122835998	C	A	122835998	2	1	57	1	0	0	0	0	0	0	0	1	16610	697	25	4		4	TRPC3	4	122835998	Silent	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		122835998	68318278	11	7701										
PCDHA9	9752	genome.wustl.edu	37	chr5	140230162	140230162	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ggccccgaggtgacgctggtGgatgtcaacgtgtacctgat	15	10	1	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr5:140230162G>T	ENST00000532602.1	+	1	3115	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Silent_p.V694V|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	694					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V694V(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCTGGTGGATGTCAACG	0.652																																					Melanoma(55;1800 1972 14909)												2	Substitution - coding silent(2)	cervix(2)											70	65	67					5																	140230162		2196	4273	6469	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2082G>T	5.37:g.140230162G>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V694	ENST00000532602.1	37	c.2082	CCDS54920.1	5																																																																																			PCDHA9	-	NULL		0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	G	NM_031857		140230162	1	no_errors	ENST00000532602	ensembl	human	known	70_37	silent	SNP	0.371	T	T	140230162	G	T	140230162	2	4	57	1	0	0	0	0	0	0	0	1	11555	1335	47	4		4	PCDHA9	5	140230162	Silent	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		140230162	40685098	12	7702										
PCDHGA1	56114	genome.wustl.edu	37	chr5	140710561	140710561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctcagagcatgccgtgtctcGtgagttttaatatccttgtt	9	9	2	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr5:140710561G>T	ENST00000517417.1	+	1	310	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V104L|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V104L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGTCTCGTGAGTTTTAA	0.458																																																	2	Substitution - Missense(2)	cervix(2)											104	118	113					5																	140710561		2203	4300	6503	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.310G>T	5.37:g.140710561G>T	ENSP00000431083:p.Val104Leu		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V104L	ENST00000517417.1	37	c.310	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.370413	0.01225	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.18016	2.24;2.24	4.37	3.42	0.39159	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.167519	0.28192	N	0.016248	T	0.07593	0.0191	N	0.04805	-0.155	0.21290	N	0.999731	B;B	0.15141	0.012;0.007	B;B	0.21917	0.03;0.037	T	0.28902	-1.0029	10	0.26408	T	0.33	.	7.7451	0.28864	0.0:0.3402:0.512:0.1477	.	104;104	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	104	ENSP00000431083:V104L;ENSP00000367345:V104L	ENSP00000367345:V104L	V	+	1	0	PCDHGA1	140690745	0.001000	0.12720	0.998000	0.56505	0.578000	0.36192	-0.084000	0.11268	2.432000	0.82394	0.655000	0.94253	GTG	PCDHGA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	G	NM_018912		140710561	1	no_errors	ENST00000517417	ensembl	human	known	70_37	missense	SNP	0.630	T	T	140710561	G	T	140710561	3	4	57	1	0	0	0	0	1	0	0	0	11574	1145	40	2	312	2	PCDHGA1	5	140710561	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	480399	140710561	40204699	13	7703										
HIST1H2AG	8969	genome.wustl.edu	37	chr6	27101231	27101231	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	actgagagccaccacaaggcGaagggcaagtaactatctgt	11	10	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:27101231G>T	ENST00000359193.2	+	1	400	c.381G>T	c.(379-381)gcG>gcT	p.A127A	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	127						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A127A(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACCACAAGGCGAAGGGCAAGT	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											67	64	65					6																	27101231		2203	4300	6503	SO:0001819	synonymous_variant	8969			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.381G>T	6.37:g.27101231G>T			P02261|Q2M1R2|Q76PA6	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.A127	ENST00000359193.2	37	c.381	CCDS4619.1	6																																																																																			HIST1H2AG	-	NULL		0.517	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	HGNC	protein_coding	OTTHUMT00000040137.1	G	NM_021064		27101231	1	no_errors	ENST00000359193	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27101231	G	T	27101231	2	4	57	1	0	0	0	0	0	0	0	1	7153	1045	37	3		3	HIST1H2AG	6	27101231	Silent	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		27101231	144013836	14	7704										
HIST1H4L	8368	genome.wustl.edu	37	chr6	27841106	27841106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	cggattacattctccaaaaaCactttaagaactccgcgtgt	6	11	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:27841106C>T	ENST00000355981.2	-	1	183	c.183G>A	c.(181-183)gtG>gtA	p.V61V	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	61					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V61V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TCTCCAAAAACACTTTAAGAA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											102	86	92					6																	27841106		2203	4300	6503	SO:0001819	synonymous_variant	8368			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.183G>A	6.37:g.27841106C>T			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V61	ENST00000355981.2	37	c.183	CCDS4637.1	6																																																																																			HIST1H4L	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd		0.567	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4L	HGNC	protein_coding	OTTHUMT00000043513.1	C	NM_003546		27841106	-1	no_errors	ENST00000355981	ensembl	human	known	70_37	silent	SNP	0.188	T	T	27841106	C	T	27841106	2	4	57	1	0	0	0	0	0	0	0	1	7196	465	17	4		4	HIST1H4L	6	27841106	Silent	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	739875	27841106	143273961	15	7705										
COL19A1	1310	genome.wustl.edu	37	chr6	70610139	70610139	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	tacattttacaggttttgatCtaggagacagcttttctcta	7	7	2	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:70610139C>G	ENST00000322773.4	+	4	277	c.175C>G	c.(175-177)Cta>Gta	p.L59V		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	59	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.L59V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGTTTTGATCTAGGAGACAG	0.294																																																	1	Substitution - Missense(1)	cervix(1)											67	67	67					6																	70610139		2203	4295	6498	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.175C>G	6.37:g.70610139C>G	ENSP00000316030:p.Leu59Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L59V	ENST00000322773.4	37	c.175	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206860	0.22205	.	.	ENSG00000082293	ENST00000322773	T	0.49720	0.77	5.9	0.346	0.16017	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.109437	0.35466	N	0.003197	T	0.20373	0.0490	L	0.46614	1.455	0.80722	D	1	B	0.16603	0.018	B	0.17722	0.019	T	0.09885	-1.0654	10	0.59425	D	0.04	.	7.5047	0.27538	0.0:0.527:0.2166:0.2563	.	59	Q14993	COJA1_HUMAN	V	59	ENSP00000316030:L59V	ENSP00000316030:L59V	L	+	1	2	COL19A1	70666860	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	0.647000	0.24812	0.101000	0.17610	0.650000	0.86243	CTA	COL19A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.294	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	C			70610139	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	0.981	G	G	70610139	C	G	70610139	3	3	57	1	0	0	0	0	1	0	0	0	3681	912	32	1	185	1	COL19A1	6	70610139	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	42769033	70610139	100504928	16	7706										
MARCKS	4082	genome.wustl.edu	37	chr6	114179004	114179004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ggcggctgtggcctcgtcgcCttccaaagcgaacggacagg	15	13	0	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:114179004C>T	ENST00000368635.4	+	1	464	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	28					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GCCTCGTCGCCTTCCAAAGCG	0.577																																																	0													22	22	22					6																	114179004		2202	4299	6501	SO:0001583	missense	4082			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.83C>T	6.37:g.114179004C>T	ENSP00000357624:p.Pro28Leu		E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	pfam_MARCKS,prints_MARCKS	p.P28L	ENST00000368635.4	37	c.83	CCDS5101.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596929	0.87055	.	.	ENSG00000155130	ENST00000368635	T	0.54866	0.55	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68864	-0.5296	10	0.87932	D	0	.	18.74	0.91770	0.0:1.0:0.0:0.0	.	28	P29966	MARCS_HUMAN	L	28	ENSP00000357624:P28L	ENSP00000357624:P28L	P	+	2	0	MARCKS	114285697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.218000	0.77991	2.746000	0.94184	0.561000	0.74099	CCT	MARCKS	-	pfam_MARCKS,prints_MARCKS		0.577	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCKS	HGNC	protein_coding	OTTHUMT00000041903.1	C	NM_002356		114179004	1	no_errors	ENST00000368635	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114179004	C	T	114179004	3	4	57	1	0	0	0	0	1	0	0	0	9332	681	24	4	85	4	MARCKS	6	114179004	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	43568865	114179004	56936063	17	7707										
CCT6A	908	genome.wustl.edu	37	chr7	56122148	56122148	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gatggtacgacttctaatgtCctaatcattggagagctgct	10	8	2	1	rs562387995		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:56122148C>G	ENST00000275603.4	+	3	507	c.288C>G	c.(286-288)gtC>gtG	p.V96V	PSPH_ENST00000275605.3_5'Flank|CCT6A_ENST00000335503.3_Intron|SNORA22_ENST00000383876.1_RNA|PSPH_ENST00000395471.3_5'Flank|CCT6A_ENST00000540286.1_Silent_p.V65V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	96					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.V96V(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCTAATGTCCTAATCATTG	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											114	111	112					7																	56122148		2203	4300	6503	SO:0001819	synonymous_variant	908			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.288C>G	7.37:g.56122148C>G			A6NCD2|Q3KP28|Q75LP4|Q96S46	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.V96	ENST00000275603.4	37	c.288	CCDS5523.1	7																																																																																			CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta		0.388	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	C	NM_001762		56122148	1	no_errors	ENST00000275603	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56122148	C	G	56122148	2	3	57	1	0	0	0	0	0	0	0	1	2962	842	30	1		1	CCT6A	7	56122148	Silent	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		56122148	103016515	18	7708			1	36		2	2	45	C		8.527665e-05
CCT6A	908	genome.wustl.edu	37	chr7	56122192	56122192	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	acaggcggatctctacatttCtgaagtatgcacaactcttg	8	10	3	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:56122192C>G	ENST00000275603.4	+	3	551	c.332C>G	c.(331-333)tCt>tGt	p.S111C	PSPH_ENST00000275605.3_5'Flank|CCT6A_ENST00000335503.3_Intron|SNORA22_ENST00000383876.1_RNA|PSPH_ENST00000395471.3_5'Flank|CCT6A_ENST00000540286.1_Missense_Mutation_p.S80C	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	111					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.S111C(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCTACATTTCTGAAGTATGC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											87	83	85					7																	56122192		2203	4300	6503	SO:0001583	missense	908			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.332C>G	7.37:g.56122192C>G	ENSP00000275603:p.Ser111Cys		A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.S111C	ENST00000275603.4	37	c.332	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072077	0.55646	.	.	ENSG00000146731	ENST00000275603;ENST00000540286	T;T	0.79653	-1.29;-1.29	5.35	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	M	0.91249	3.19	0.80722	D	1	B;B	0.32507	0.373;0.373	B;B	0.38428	0.273;0.189	D	0.86404	0.1744	10	0.66056	D	0.02	-14.7295	12.8405	0.57800	0.0:0.9212:0.0:0.0788	.	80;111	B4DPJ8;P40227	.;TCPZ_HUMAN	C	111;80	ENSP00000275603:S111C;ENSP00000438488:S80C	ENSP00000275603:S111C	S	+	2	0	CCT6A	56089686	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.175000	0.77632	1.245000	0.43885	0.491000	0.48974	TCT	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta		0.378	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	C	NM_001762		56122192	1	no_errors	ENST00000275603	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56122192	C	G	56122192	3	3	57	1	0	0	0	0	1	0	0	0	2962	913	32	1	342	1	CCT6A	7	56122192	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	44	56122192	103016471	19	7709			1	36		2	2	45	C		8.527665e-05
WDR60	55112	genome.wustl.edu	37	chr7	158715181	158715181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	tggacagcaaatacgtcctcTgtgtgtgggatatttggcag	13	7	1	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:158715181T>C	ENST00000407559.3	+	16	2193	c.2035T>C	c.(2035-2037)Tgt>Cgt	p.C679R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	679					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C679R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ATACGTCCTCTGTGTGTGGGA	0.542																																																	1	Substitution - Missense(1)	cervix(1)											85	84	84					7																	158715181		2062	4200	6262	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2035T>C	7.37:g.158715181T>C	ENSP00000384290:p.Cys679Arg		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.C679R	ENST00000407559.3	37	c.2035	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573232	0.65765	.	.	ENSG00000126870	ENST00000407559	T	0.77489	-1.1	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90266	0.4304	10	0.87932	D	0	-17.7793	13.1284	0.59368	0.0:0.0:0.0:1.0	.	162;679	A4D230;Q8WVS4	.;WDR60_HUMAN	R	679	ENSP00000384290:C679R	ENSP00000384290:C679R	C	+	1	0	WDR60	158407942	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	6.163000	0.71880	1.974000	0.57490	0.482000	0.46254	TGT	WDR60	-	superfamily_WD40_repeat_dom		0.542	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	T	NM_018051		158715181	1	no_errors	ENST00000407559	ensembl	human	known	70_37	missense	SNP	1.000	C	C	158715181	T	C	158715181	3	2	57	1	0	0	0	0	1	0	0	0	17342	1580	55	5	2097	5	WDR60	7	158715181	Missense_Mutation	SNP	T	TCGA-DR-A0ZL-01A-11D-A10S-08	102592989	158715181	423482	20	7710										
BAI1	575	genome.wustl.edu	37	chr8	143614744	143614744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ccgtcaccgaccgccgctccGccctcttccagatcctcttc	6	22	3	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr8:143614744G>A	ENST00000517894.1	+	25	4381	c.3487G>A	c.(3487-3489)Gcc>Acc	p.A1163T	BAI1_ENST00000323289.5_Missense_Mutation_p.A1163T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1163					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A1163T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCGCTCCGCCCTCTTCCA	0.657																																																	1	Substitution - Missense(1)	cervix(1)											25	34	31					8																	143614744		2198	4295	6493	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3487G>A	8.37:g.143614744G>A	ENSP00000430945:p.Ala1163Thr			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.A1163T	ENST00000517894.1	37	c.3487		8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174972	0.78564	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.44083	0.93;0.93	4.56	4.56	0.56223	.	0.071448	0.56097	U	0.000040	T	0.39009	0.1062	N	0.25245	0.725	0.50171	D	0.999853	D	0.54047	0.964	P	0.48704	0.587	T	0.30327	-0.9982	10	0.45353	T	0.12	.	16.6935	0.85328	0.0:0.0:1.0:0.0	.	1163	E9PBK0	.	T	1163	ENSP00000430945:A1163T;ENSP00000313046:A1163T	ENSP00000313046:A1163T	A	+	1	0	BAI1	143611746	0.915000	0.31059	1.000000	0.80357	0.998000	0.95712	2.974000	0.49272	2.236000	0.73375	0.655000	0.94253	GCC	BAI1	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143614744	1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	143614744	G	A	143614744	3	1	57	1	0	0	0	0	1	0	0	0	1299	1087	38	2	3581	2	BAI1	8	143614744	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		143614744	2749278	21	7711										
FLJ46321	389763	genome.wustl.edu	37	chr9	84605720	84605720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	tgtttcctgcagtcctcgggGccagcatcatgataccaacc	9	14	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr9:84605720G>T	ENST00000344803.2	+	4	382	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	112					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G112V(2)									AGTCCTCGGGGCCAGCATCAT	0.542																																																	2	Substitution - Missense(2)	cervix(2)											86	76	79					9																	84605720		1963	4152	6115	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.335G>T	9.37:g.84605720G>T	ENSP00000341988:p.Gly112Val			Missense_Mutation	SNP	NULL	p.G112V	ENST00000344803.2	37	c.335	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792811	0.31685	.	.	ENSG00000214929	ENST00000344803	T	0.55234	0.53	2.92	0.975	0.19721	.	0.488092	0.17496	N	0.172180	T	0.61726	0.2370	M	0.70595	2.14	0.09310	N	0.999997	D	0.71674	0.998	D	0.64776	0.929	T	0.51172	-0.8739	10	0.87932	D	0	-4.5356	3.3917	0.07291	0.1426:0.0:0.604:0.2534	.	112	Q6ZQQ2	F75D1_HUMAN	V	112	ENSP00000341988:G112V	ENSP00000341988:G112V	G	+	2	0	FAM75D1	83795540	0.020000	0.18652	0.001000	0.08648	0.000000	0.00434	0.259000	0.18405	0.273000	0.22049	-0.259000	0.10710	GGC	SPATA31D1	-	NULL		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84605720	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.001	T	T	84605720	G	T	84605720	3	4	57	1	0	0	0	0	1	0	0	0	5950	1203	42	4	349	4	FLJ46321	9	84605720	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		84605720	56607711	22	7712										
TEX10	54881	genome.wustl.edu	37	chr9	103109670	103109670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	aaccccagcattgtagtgatGcatctgtgacagcaaatcct	8	11	1	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr9:103109670G>A	ENST00000374902.4	-	3	375	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	TEX10_ENST00000535814.1_Missense_Mutation_p.H70Y|TEX10_ENST00000537512.1_Missense_Mutation_p.H2Y	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	67						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.H67Y(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTGTAGTGATGCATCTGTGAC	0.313																																																	1	Substitution - Missense(1)	cervix(1)											86	94	91					9																	103109670		2200	4293	6493	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.199C>T	9.37:g.103109670G>A	ENSP00000364037:p.His67Tyr		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H67Y	ENST00000374902.4	37	c.199	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499931	0.64298	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	T;T;T	0.64438	-0.1;-0.1;-0.1	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.73598	2.24	0.80722	D	1	D;B;D;B	0.65815	0.991;0.001;0.995;0.001	P;B;P;B	0.60541	0.69;0.003;0.876;0.002	T	0.78142	-0.2319	10	0.59425	D	0.04	-10.1833	15.3009	0.73949	0.0:0.0:0.8595:0.1405	.	2;70;67;67	B7Z9D5;B4DYV2;B4DQR0;Q9NXF1	.;.;.;TEX10_HUMAN	Y	70;67;67;2	ENSP00000444555:H70Y;ENSP00000364037:H67Y;ENSP00000438120:H2Y	ENSP00000364037:H67Y	H	-	1	0	TEX10	102149491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.636000	0.89361	0.655000	0.94253	CAT	TEX10	-	superfamily_ARM-type_fold		0.313	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	G	NM_017746		103109670	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103109670	G	A	103109670	3	1	57	1	0	0	0	0	1	0	0	0	15802	1319	46	4	2642	4	TEX10	9	103109670	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	18503950	103109670	38103761	23	7713										
CUBN	8029	genome.wustl.edu	37	chr10	17146596	17146596	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	cacttacaaaaataaccagaGacagtgtcctaaggggaaaa	8	8	0	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:17146596G>T	ENST00000377833.4	-	12	1304	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	413	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V413V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATAACCAGAGACAGTGTCCT	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											65	53	57					10																	17146596		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1239C>A	10.37:g.17146596G>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V413	ENST00000377833.4	37	c.1239	CCDS7113.1	10																																																																																			CUBN	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		17146596	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	silent	SNP	0.417	T	T	17146596	G	T	17146596	2	4	57	1	0	0	0	0	0	0	0	1	4056	929	33	3		3	CUBN	10	17146596	Silent	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		17146596	118388151	24	7714										
ARMC3	219681	genome.wustl.edu	37	chr10	23287294	23287294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	aagctgctctcgctgtcaccGcaactgcgtgtgacgttgaa	11	12	2	2	rs375026207		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:23287294G>A	ENST00000298032.5	+	11	1477	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	ARMC3_ENST00000376528.4_Missense_Mutation_p.A202T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A465T|ARMC3_ENST00000409049.3_Missense_Mutation_p.A465T|RNA5SP304_ENST00000411199.1_RNA	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	465						extracellular vesicular exosome (GO:0070062)		p.A465T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGCTGTCACCGCAACTGCGTG	0.483																																																	1	Substitution - Missense(1)	cervix(1)						G	THR/ALA	0,4406		0,0,2203	59	56	57		1393	3.6	0	10		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC3	NM_173081.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	465/873	23287294	1,13005	2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1393G>A	10.37:g.23287294G>A	ENSP00000298032:p.Ala465Thr		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A465T	ENST00000298032.5	37	c.1393	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644439	0.29246	0.0	1.16E-4	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.65364	-0.15;-0.15;1.44;0.83	5.44	3.59	0.41128	Armadillo-like helical (1);Armadillo-type fold (1);	0.361605	0.31370	N	0.007766	T	0.48909	0.1526	L	0.42686	1.345	0.38839	D	0.956023	B;B	0.23990	0.028;0.095	B;B	0.19946	0.012;0.027	T	0.38520	-0.9657	10	0.23302	T	0.38	-14.578	8.3328	0.32197	0.0711:0.0:0.6517:0.2772	.	465;465	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	465;465;401;465;202	ENSP00000298032:A465T;ENSP00000386943:A465T;ENSP00000387288:A465T;ENSP00000365711:A202T	ENSP00000298032:A465T	A	+	1	0	ARMC3	23327300	0.693000	0.27728	0.015000	0.15790	0.014000	0.08584	1.555000	0.36277	0.669000	0.31146	-0.470000	0.05040	GCA	ARMC3	-	superfamily_ARM-type_fold		0.483	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	G	NM_173081		23287294	1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.783	A	A	23287294	G	A	23287294	3	1	57	1	0	0	0	0	1	0	0	0	953	1087	38	2	1431	2	ARMC3	10	23287294	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	6140698	23287294	112247453	25	7715										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24874007	24874007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ccagttgactttccttttttCataacatcaaacactttagt	3	10	2	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:24874007C>G	ENST00000396432.2	-	26	5697	c.5211G>C	c.(5209-5211)atG>atC	p.M1737I		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1736	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.M1736I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCCTTTTTTCATAACATCAA	0.408																																																	1	Substitution - Missense(1)	cervix(1)											94	97	96					10																	24874007		2202	4299	6501	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5211G>C	10.37:g.24874007C>G	ENSP00000379709:p.Met1737Ile		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.M1737I	ENST00000396432.2	37	c.5211	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489991	0.26686	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10288	2.89	4.77	4.77	0.60923	.	0.211103	0.56097	D	0.000033	T	0.13157	0.0319	L	0.54323	1.7	0.80722	D	1	B	0.27229	0.172	B	0.18871	0.023	T	0.05750	-1.0866	10	0.29301	T	0.29	.	18.1524	0.89678	0.0:1.0:0.0:0.0	.	1736	Q5T5U3	RHG21_HUMAN	I	1737;1186	ENSP00000379709:M1737I	ENSP00000379709:M1737I	M	-	3	0	ARHGAP21	24914013	1.000000	0.71417	0.969000	0.41365	0.627000	0.37826	3.658000	0.54482	2.332000	0.79248	0.591000	0.81541	ATG	ARHGAP21	-	NULL		0.408	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24874007	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24874007	C	G	24874007	3	3	57	1	0	0	0	0	1	0	0	0	871	826	29	1	669	1	ARHGAP21	10	24874007	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	1586713	24874007	110660740	26	7716										
PTCHD3	374308	genome.wustl.edu	37	chr10	27702350	27702350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agatgctgctcaggttgagcGttttgttcacctgccaggcg	13	10	2	2	rs147881350|rs35726908		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:27702350G>A	ENST00000438700.3	-	1	947	c.830C>T	c.(829-831)aCg>aTg	p.T277M		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	277					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.T277M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGTTGAGCGTTTTGTTCAC	0.612													G|||	1	0.000199681	0	0	5008	,	,		16599	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	cervix(1)|large_intestine(1)						G	MET/THR	0,4406		0,0,2203	59	65	63		830	-2.5	0	10	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTCHD3	NM_001034842.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	277/768	27702350	1,13005	2203	4300	6503	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.830C>T	10.37:g.27702350G>A	ENSP00000417658:p.Thr277Met		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.T277M	ENST00000438700.3	37	c.830	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088868	0.36855	0.0	1.16E-4	ENSG00000182077	ENST00000438700	D	0.85629	-2.01	3.18	-2.5	0.06384	.	.	.	.	.	T	0.80607	0.4655	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.58721	0.844	T	0.68138	-0.5488	9	0.38643	T	0.18	0.775	1.0447	0.01567	0.2493:0.3549:0.1727:0.2231	.	277	Q3KNS1	PTHD3_HUMAN	M	277	ENSP00000417658:T277M	ENSP00000417658:T277M	T	-	2	0	PTCHD3	27742356	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.368000	0.02580	-0.503000	0.06586	0.561000	0.74099	ACG	PTCHD3	-	pfam_Patched		0.612	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	G	XM_370541		27702350	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	missense	SNP	0.000	A	A	27702350	G	A	27702350	3	1	57	1	0	0	0	0	1	0	0	0	12761	1145	40	2	1489	2	PTCHD3	10	27702350	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	2828343	27702350	107832397	27	7717										
WAC	51322	genome.wustl.edu	37	chr10	28824542	28824542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gtagcggtgatcacagacatGaaaagatgcgagacgccgga	14	8	1	5			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:28824542G>A	ENST00000354911.4	+	3	291	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000347934.4_Missense_Mutation_p.E44K|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000375664.4_5'UTR	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	44					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.E44K(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCACAGACATGAAAAGATGCG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											100	103	102					10																	28824542		2203	4300	6503	SO:0001583	missense	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.130G>A	10.37:g.28824542G>A	ENSP00000346986:p.Glu44Lys		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E44K	ENST00000354911.4	37	c.130	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239835	0.79912	.	.	ENSG00000095787	ENST00000347934;ENST00000354911	T;T	0.30714	1.52;1.52	4.61	4.61	0.57282	.	0.054782	0.64402	D	0.000001	T	0.29716	0.0742	N	0.19112	0.55	0.80722	D	1	B;D	0.53885	0.361;0.963	B;P	0.50570	0.187;0.644	T	0.03829	-1.1000	10	0.23891	T	0.37	-13.0454	17.4738	0.87655	0.0:0.0:1.0:0.0	.	44;44	Q9BTA9-5;Q9BTA9	.;WAC_HUMAN	K	44	ENSP00000311106:E44K;ENSP00000346986:E44K	ENSP00000311106:E44K	E	+	1	0	WAC	28864548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.096000	0.63516	0.563000	0.77884	GAA	WAC	-	NULL		0.433	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	G	NM_100264		28824542	1	no_errors	ENST00000354911	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28824542	G	A	28824542	3	1	57	1	0	0	0	0	1	0	0	0	17278	1291	45	1	140	1	WAC	10	28824542	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	1122192	28824542	106710205	28	7718										
JMJD1C	221037	genome.wustl.edu	37	chr10	64944425	64944425	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	tacaaaaaatcctggcaaatGagaggccaaattgaattttc	7	7	0	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:64944425G>A	ENST00000399262.2	-	21	7122	c.6904C>T	c.(6904-6906)Cat>Tat	p.H2302Y	JMJD1C_ENST00000542921.1_Missense_Mutation_p.H2120Y|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H2065Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2302	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.H2065Y(1)|p.H2302Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTGGCAAATGAGAGGCCAAA	0.378																																																	2	Substitution - Missense(2)	cervix(2)											97	96	96					10																	64944425		1835	4077	5912	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6904C>T	10.37:g.64944425G>A	ENSP00000382204:p.His2302Tyr		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.H2302Y	ENST00000399262.2	37	c.6904	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595263	0.66219	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.76316	-1.01;-1.01;-1.01	5.96	5.06	0.68205	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.049105	0.85682	D	0.000000	T	0.59555	0.2202	N	0.17800	0.525	0.80722	D	1	P;P;B	0.45176	0.852;0.539;0.146	B;B;B	0.34180	0.177;0.16;0.052	T	0.61397	-0.7071	10	0.33940	T	0.23	-9.3136	11.8696	0.52513	0.1416:0.0:0.8584:0.0	.	2120;2302;2120	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	Y	2302;2065;2120	ENSP00000382204:H2302Y;ENSP00000384990:H2065Y;ENSP00000444682:H2120Y	ENSP00000382204:H2302Y	H	-	1	0	JMJD1C	64614431	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.874000	0.63064	1.536000	0.49237	0.585000	0.79938	CAT	JMJD1C	-	smart_JmjC_dom,pfscan_JmjC_dom		0.378	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	G	NM_004241		64944425	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64944425	G	A	64944425	3	1	57	1	0	0	0	0	1	0	0	0	7970	1290	45	1	742	1	JMJD1C	10	64944425	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	36119883	64944425	70590322	29	7719										
LRIT2	340745	genome.wustl.edu	37	chr10	85984344	85984344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ggtaatggacttgacaaactGgacaagcccccttaggcgac	11	11	0	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:85984344G>T	ENST00000372113.4	-	2	642	c.637C>A	c.(637-639)Cag>Aag	p.Q213K	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q213K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	213	LRRCT.					integral component of membrane (GO:0016021)		p.Q213K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGACAAACTGGACAAGCCCC	0.557																																																	1	Substitution - Missense(1)	cervix(1)											69	70	70					10																	85984344		2203	4300	6503	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.637C>A	10.37:g.85984344G>T	ENSP00000361185:p.Gln213Lys		B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q213K	ENST00000372113.4	37	c.637	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108772	0.77096	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.51325	0.71;0.71	6.17	5.27	0.74061	Cysteine-rich flanking region, C-terminal (1);	0.052085	0.85682	D	0.000000	T	0.61223	0.2330	M	0.82630	2.6	0.47862	D	0.999538	D;D	0.54601	0.967;0.958	P;B	0.49361	0.608;0.369	T	0.65813	-0.6077	10	0.37606	T	0.19	.	16.5999	0.84810	0.0:0.1305:0.8695:0.0	.	213;213	B7ZME6;A6NDA9	.;LRIT2_HUMAN	K	213	ENSP00000361185:Q213K;ENSP00000438264:Q213K	ENSP00000361185:Q213K	Q	-	1	0	LRIT2	85974324	1.000000	0.71417	0.621000	0.29145	0.993000	0.82548	4.857000	0.62939	1.604000	0.50143	0.655000	0.94253	CAG	LRIT2	-	smart_Cys-rich_flank_reg_C		0.557	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	G	XM_291697		85984344	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85984344	G	T	85984344	3	4	57	1	0	0	0	0	1	0	0	0	8971	1357	47	4	1023	4	LRIT2	10	85984344	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	21039919	85984344	49550403	30	7720										
ADD3	120	genome.wustl.edu	37	chr10	111881894	111881894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gccctagcaggtgcaggtggAgtagacaatctccatgtact	12	10	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:111881894A>G	ENST00000356080.4	+	9	1354	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ADD3_ENST00000360162.3_Silent_p.G329G|ADD3_ENST00000277900.8_Silent_p.G329G	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	329						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G329G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTGCAGGTGGAGTAGACAATC	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											134	129	131					10																	111881894		2203	4300	6503	SO:0001819	synonymous_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.987A>G	10.37:g.111881894A>G			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.G329	ENST00000356080.4	37	c.987	CCDS7561.1	10																																																																																			ADD3	-	superfamily_Aldolase_II/adducin_N		0.413	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	A	NM_019903		111881894	1	no_errors	ENST00000356080	ensembl	human	known	70_37	silent	SNP	0.982	G	G	111881894	A	G	111881894	2	3	57	1	0	0	0	0	0	0	0	1	306	291	11	5		5	ADD3	10	111881894	Silent	SNP	A	TCGA-DR-A0ZL-01A-11D-A10S-08	25897550	111881894	23652853	31	7721										
SVIP	258010	genome.wustl.edu	37	chr11	22849396	22849396	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ttgtcttctctctgcagcctCtgcaagctttgctcttttct	6	13	6	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr11:22849396C>A	ENST00000354193.4	-	2	195	c.79G>T	c.(79-81)Gag>Tag	p.E27*	RP11-17A1.3_ENST00000528701.1_RNA|SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000499625.1_RNA|RP11-17A1.3_ENST00000525963.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	27					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)	p.E27*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TCTGCAGCCTCTGCAAGCTTT	0.284																																																	1	Substitution - Nonsense(1)	cervix(1)											140	129	132					11																	22849396		1810	4074	5884	SO:0001587	stop_gained	258010			AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.79G>T	11.37:g.22849396C>A	ENSP00000346130:p.Glu27*			Nonsense_Mutation	SNP	NULL	p.E27*	ENST00000354193.4	37	c.79	CCDS41627.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.454609	0.97581	.	.	ENSG00000198168	ENST00000354193	.	.	.	5.12	5.12	0.69794	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3599	14.4012	0.67047	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000346130:E27X	E	-	1	0	SVIP	22805972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.620000	0.54203	2.539000	0.85634	0.655000	0.94253	GAG	SVIP	-	NULL		0.284	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SVIP	HGNC	protein_coding	OTTHUMT00000387725.2	C	NM_148893		22849396	-1	no_errors	ENST00000354193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	22849396	C	A	22849396	4	1	57	1	0	0	0	0	0	1	0	0	15452	922	32	3	166	3	SVIP	11	22849396	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		22849396	112157120	32	7722										
SIK2	23235	genome.wustl.edu	37	chr11	111571629	111571629	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gatttcggttttggaaatttCtttaaaagtggtgaactgct	10	4	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr11:111571629C>G	ENST00000304987.3	+	5	671	c.498C>G	c.(496-498)ttC>ttG	p.F166L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.F166L(2)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGGAAATTTCTTTAAAAGTG	0.398																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											71	73	72					11																	111571629		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.498C>G	11.37:g.111571629C>G	ENSP00000305976:p.Phe166Leu		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F166L	ENST00000304987.3	37	c.498	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779674	0.70107	.	.	ENSG00000170145	ENST00000304987	T	0.63580	-0.05	5.32	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089754	0.85682	D	0.000000	T	0.53012	0.1770	N	0.11255	0.115	0.54753	D	0.999989	P	0.51933	0.949	P	0.61132	0.884	T	0.48399	-0.9039	10	0.13108	T	0.6	.	8.6979	0.34307	0.1525:0.7719:0.0:0.0756	.	166	Q9H0K1	SIK2_HUMAN	L	166	ENSP00000305976:F166L	ENSP00000305976:F166L	F	+	3	2	SIK2	111076839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.584000	0.46102	1.469000	0.48083	0.603000	0.83216	TTC	SIK2	-	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom		0.398	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	C	NM_015191		111571629	1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111571629	C	G	111571629	3	3	57	1	0	0	0	0	1	0	0	0	14348	912	32	1	516	1	SIK2	11	111571629	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	88722233	111571629	23434887	33	7723										
ATF7IP	55729	genome.wustl.edu	37	chr12	14577421	14577421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gtcccctggtgatgccacctCtggtgatgccactgctgatg	12	13	1	3			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:14577421C>G	ENST00000540793.1	+	1	727	c.572C>G	c.(571-573)tCt>tGt	p.S191C	ATF7IP_ENST00000543189.1_Missense_Mutation_p.S191C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S199C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S191C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S191C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	191					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.S191C(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGCCACCTCTGGTGATGCC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											159	120	133					12																	14577421		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.572C>G	12.37:g.14577421C>G	ENSP00000444589:p.Ser191Cys		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S191C	ENST00000540793.1	37	c.572	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011459	0.93346	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.25912	2.09;2.1;2.09;2.08;1.77;2.09	4.88	3.91	0.45181	.	0.140137	0.33650	N	0.004692	T	0.28995	0.0720	L	0.54323	1.7	0.28893	N	0.893755	P;P;P;P;P	0.36587	0.559;0.559;0.54;0.54;0.559	B;B;B;B;B	0.40444	0.329;0.329;0.247;0.247;0.264	T	0.27468	-1.0073	10	0.87932	D	0	-8.5725	12.8064	0.57616	0.0:0.8337:0.1663:0.0	.	199;191;191;191;191	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	C	191;191;191;199;191;191	ENSP00000261168:S191C;ENSP00000443179:S191C;ENSP00000445955:S191C;ENSP00000440440:S199C;ENSP00000379575:S191C;ENSP00000444589:S191C	ENSP00000261168:S191C	S	+	2	0	ATF7IP	14468688	0.273000	0.24181	0.185000	0.23176	0.719000	0.41307	3.247000	0.51422	2.620000	0.88729	0.655000	0.94253	TCT	ATF7IP	-	NULL		0.562	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	C	NM_018179		14577421	1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	0.722	G	G	14577421	C	G	14577421	3	3	57	1	0	0	0	0	1	0	0	0	1088	913	32	1	574	1	ATF7IP	12	14577421	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		14577421	119274474	34	7724										
OVCH1	341350	genome.wustl.edu	37	chr12	29649141	29649141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ggctgtccaggcagtgtgctGctgtaacaacccgatcttct	11	12	2	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:29649141G>A	ENST00000318184.5	-	3	253	c.254C>T	c.(253-255)gCa>gTa	p.A85V		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	85	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A85V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCAGTGTGCTGCTGTAACAAC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											80	81	81					12																	29649141		2021	4192	6213	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.254C>T	12.37:g.29649141G>A	ENSP00000326708:p.Ala85Val			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A85V	ENST00000318184.5	37	c.254		12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703915	0.48412	.	.	ENSG00000187950	ENST00000318184	D	0.95238	-3.65	2.82	0.917	0.19380	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.94381	0.8193	M	0.89030	3	0.19575	N	0.999968	P	0.41624	0.757	P	0.44647	0.456	D	0.88511	0.3089	9	0.87932	D	0	.	3.2089	0.06676	0.145:0.0:0.594:0.261	.	85	Q7RTY7	OVCH1_HUMAN	V	85	ENSP00000326708:A85V	ENSP00000326708:A85V	A	-	2	0	OVCH1	29540408	0.571000	0.26659	0.673000	0.29887	0.703000	0.40648	2.839000	0.48207	0.239000	0.21243	0.655000	0.94253	GCA	OVCH1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.463	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	G	NM_183378		29649141	-1	no_errors	ENST00000318184	ensembl	human	known	70_37	missense	SNP	0.774	A	A	29649141	G	A	29649141	3	1	57	1	0	0	0	0	1	0	0	0	11347	1319	46	4	3254	4	OVCH1	12	29649141	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	15071720	29649141	104202754	35	7725										
PFKM	5213	genome.wustl.edu	37	chr12	48528576	48528576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	cctgaatgtccaccagatgaCgactgggaggaacacctttg	11	11	0	3			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:48528576C>T	ENST00000312352.7	+	8	750	c.711C>T	c.(709-711)gaC>gaT	p.D237D	PFKM_ENST00000547587.1_Silent_p.D237D|PFKM_ENST00000340802.6_Silent_p.D308D|PFKM_ENST00000551804.1_Silent_p.D237D|PFKM_ENST00000359794.5_Silent_p.D237D|PFKM_ENST00000395233.2_Silent_p.D237D	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	237	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D308D(1)|p.D237D(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CACCAGATGACGACTGGGAGG	0.512																																																	2	Substitution - coding silent(2)	cervix(2)											135	125	129					12																	48528576		2203	4300	6503	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.711C>T	12.37:g.48528576C>T			J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.D237	ENST00000312352.7	37	c.711	CCDS8760.1	12																																																																																			PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.512	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	C	NM_000289		48528576	1	no_errors	ENST00000312352	ensembl	human	known	70_37	silent	SNP	0.931	T	T	48528576	C	T	48528576	2	4	57	1	0	0	0	0	0	0	0	1	11789	535	19	2		2	PFKM	12	48528576	Silent	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	18879435	48528576	85323319	36	7726										
ERP29	10961	genome.wustl.edu	37	chr12	112460369	112460369	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctgattgagaagaacaagatGagtgacgggaagaaggagga	16	3	0	7			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:112460369G>A	ENST00000261735.3	+	3	849	c.699G>A	c.(697-699)atG>atA	p.M233I	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.M132I	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	233					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)	p.M233I(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						AGAACAAGATGAGTGACGGGA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											85	88	87					12																	112460369		2203	4300	6503	SO:0001583	missense	10961			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"Protein disulfide isomerases"	13799	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 9"	602287	"chromosome 12 open reading frame 8"	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.699G>A	12.37:g.112460369G>A	ENSP00000261735:p.Met233Ile		C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.M233I	ENST00000261735.3	37	c.699	CCDS9158.1	12	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993898	0.35131	.	.	ENSG00000089248	ENST00000261735;ENST00000546477	.	.	.	5.75	5.75	0.90469	Endoplasmic reticulum, protein ERp29, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.34521	1.04	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.46707	-0.9172	9	0.17369	T	0.5	-26.8541	19.9439	0.97175	0.0:0.0:1.0:0.0	.	233	P30040	ERP29_HUMAN	I	233;132	.	ENSP00000261735:M233I	M	+	3	0	ERP29	110944752	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.937000	0.63513	2.706000	0.92434	0.561000	0.74099	ATG	ERP29	-	pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29		0.507	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1	G			112460369	1	no_errors	ENST00000261735	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112460369	G	A	112460369	3	1	57	1	0	0	0	0	1	0	0	0	5254	1290	45	1	709	1	ERP29	12	112460369	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	63931793	112460369	21391526	37	7727										
CPB2	1361	genome.wustl.edu	37	chr13	46658397	46658397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	taaatgggctttcacattgtCgacatcagatgcatttacaa	7	8	2	1	rs199530853		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr13:46658397C>T	ENST00000181383.4	-	3	248	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CPB2_ENST00000439329.3_Missense_Mutation_p.D78N|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	78					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D78N(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTCACATTGTCGACATCAGAT	0.388																																																	1	Substitution - Missense(1)	cervix(1)						C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	179	165	170		232,232	1.6	0	13		170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPB2	NM_016413.3,NM_001872.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	78/361,78/424	46658397	1,13005	2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.232G>A	13.37:g.46658397C>T	ENSP00000181383:p.Asp78Asn		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.D78N	ENST00000181383.4	37	c.232	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108931	0.06924	0.0	1.16E-4	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.14391	2.51;2.51	5.41	1.61	0.23674	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.651684	0.18261	N	0.146638	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.08055	0.003;0.002	T	0.42464	-0.9450	10	0.16420	T	0.52	.	6.6438	0.22925	0.0:0.2916:0.0:0.7084	.	78;78	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	N	78	ENSP00000181383:D78N;ENSP00000400714:D78N	ENSP00000181383:D78N	D	-	1	0	CPB2	45556398	0.000000	0.05858	0.046000	0.18839	0.095000	0.18619	-0.146000	0.10250	0.410000	0.25675	-0.312000	0.09012	GAC	CPB2	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.388	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	C	NM_001872		46658397	-1	no_errors	ENST00000181383	ensembl	human	known	70_37	missense	SNP	0.004	T	T	46658397	C	T	46658397	3	4	57	1	0	0	0	0	1	0	0	0	3802	884	31	1	1075	1	CPB2	13	46658397	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		46658397	68511481	38	7728										
RNF219	79596	genome.wustl.edu	37	chr13	79189884	79189884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctgaggacatcttaaacaaaGatgacccaaatctttgatct	6	9	3	4			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr13:79189884G>C	ENST00000282003.6	-	6	2070	c.2012C>G	c.(2011-2013)tCt>tGt	p.S671C	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	671	Ser-rich.						zinc ion binding (GO:0008270)	p.S671C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CTTAAACAAAGATGACCCAAA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											117	120	119					13																	79189884		2203	4300	6503	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.2012C>G	13.37:g.79189884G>C	ENSP00000282003:p.Ser671Cys		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.S671C	ENST00000282003.6	37	c.2012	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296962	0.40594	.	.	ENSG00000152193	ENST00000282003	T	0.19806	2.12	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000009	T	0.19967	0.0480	L	0.43152	1.355	0.31158	N	0.704672	B	0.22851	0.076	B	0.19148	0.024	T	0.04781	-1.0927	10	0.31617	T	0.26	-11.5815	14.9831	0.71327	0.0:0.1521:0.8479:0.0	.	671	Q5W0B1	RN219_HUMAN	C	671	ENSP00000282003:S671C	ENSP00000282003:S671C	S	-	2	0	RNF219	78087885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.985000	0.56930	2.832000	0.97577	0.655000	0.94253	TCT	RNF219	-	NULL		0.403	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	G	NM_024546		79189884	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79189884	G	C	79189884	3	2	57	1	0	0	0	0	1	0	0	0	13512	942	33	1	172	1	RNF219	13	79189884	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	32531487	79189884	35979994	39	7729										
NALCN	259232	genome.wustl.edu	37	chr13	101728269	101728269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctaaatacaatcacacaagcGcccatcatgtaagtatatgc	5	11	2	0	rs143218624		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr13:101728269G>A	ENST00000251127.6	-	35	3990	c.3909C>T	c.(3907-3909)ggC>ggT	p.G1303G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1303					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G1303G(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCACACAAGCGCCCATCATGT	0.318																																																	1	Substitution - coding silent(1)	cervix(1)											107	104	105					13																	101728269		2203	4295	6498	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3909C>T	13.37:g.101728269G>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.G1303	ENST00000251127.6	37	c.3909	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom		0.318	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		101728269	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	silent	SNP	0.332	A	A	101728269	G	A	101728269	2	1	57	1	0	0	0	0	0	0	0	1	10171	1074	38	2		2	NALCN	13	101728269	Silent	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	22538385	101728269	13441609	40	7730										
RBM25	58517	genome.wustl.edu	37	chr14	73566412	73566412	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agaaatggaagaagacaaaaGagacctgatatctcgagaga	11	5	1	6			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr14:73566412G>C	ENST00000261973.7	+	9	1106	c.821G>C	c.(820-822)aGa>aCa	p.R274T	RBM25_ENST00000540173.1_Missense_Mutation_p.R274T|RBM25_ENST00000526754.1_Missense_Mutation_p.R274T|RBM25_ENST00000525321.1_Missense_Mutation_p.R274T|RBM25_ENST00000527432.1_Missense_Mutation_p.R274T	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	274					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R274T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAGACAAAAGAGACCTGATA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											142	146	145					14																	73566412		2203	4299	6502	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.821G>C	14.37:g.73566412G>C	ENSP00000261973:p.Arg274Thr		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.R274T	ENST00000261973.7	37	c.821	CCDS32113.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.70|14.70	2.612286|2.612286	0.46631|0.46631	.|.	.|.	ENSG00000119707|ENSG00000119707	ENST00000532192|ENST00000261973;ENST00000540173;ENST00000527432;ENST00000525321;ENST00000526754	.|T;T;T;T;T	.|0.51574	.|1.11;0.7;1.11;0.78;0.7	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68146|0.68146	0.2969|0.2969	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.898;1.0	.|B;D	.|0.76575	.|0.354;0.988	T|T	0.71167|0.71167	-0.4672|-0.4672	5|10	.|0.62326	.|D	.|0.03	.|.	18.3985|18.3985	0.90507|0.90507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|274;274	.|P49756;P49756-2	.|RBM25_HUMAN;.	Q|T	53|274	.|ENSP00000261973:R274T;ENSP00000437934:R274T;ENSP00000431150:R274T;ENSP00000436868:R274T;ENSP00000436225:R274T	.|ENSP00000261973:R274T	E|R	+|+	1|2	0|0	RBM25|RBM25	72636165|72636165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.019000|8.019000	0.88732|0.88732	2.346000|2.346000	0.79739|0.79739	0.484000|0.484000	0.47621|0.47621	GAG|AGA	RBM25	-	NULL		0.353	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	G	XM_027330		73566412	1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73566412	G	C	73566412	3	2	57	1	0	0	0	0	1	0	0	0	13155	942	33	1	851	1	RBM25	14	73566412	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		73566412	33783128	41	7731										
COPS2	9318	genome.wustl.edu	37	chr15	49420152	49420152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	aaagcttgttctctgttaagCcagtttactgactacagcct	7	10	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:49420152C>T	ENST00000388901.5	-	13	1400	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	COPS2_ENST00000299259.6_Missense_Mutation_p.A450T|COPS2_ENST00000542928.1_Missense_Mutation_p.A379T	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	443					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.A443T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCTGTTAAGCCAGTTTACTG	0.428																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												1	Substitution - Missense(1)	cervix(1)											180	165	170					15																	49420152		2196	4295	6491	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1327G>A	15.37:g.49420152C>T	ENSP00000373553:p.Ala443Thr		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom	p.A450T	ENST00000388901.5	37	c.1348	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865735	0.51588	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.86	5.86	0.93980	.	0.050441	0.85682	D	0.000000	T	0.51736	0.1692	N	0.19112	0.55	0.80722	D	1	B;B;B	0.17268	0.021;0.009;0.021	B;B;B	0.18263	0.021;0.008;0.021	T	0.39333	-0.9619	9	0.34782	T	0.22	4.9176	20.2019	0.98263	0.0:1.0:0.0:0.0	.	379;451;443	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	T	450;443;379	.	ENSP00000299259:A450T	A	-	1	0	COPS2	47207444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.893000	0.69798	2.776000	0.95493	0.655000	0.94253	GCT	COPS2	-	NULL		0.428	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	HGNC	protein_coding	OTTHUMT00000417840.1	C	NM_004236		49420152	-1	no_errors	ENST00000299259	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49420152	C	T	49420152	3	4	57	1	0	0	0	0	1	0	0	0	3738	739	26	4	8	4	COPS2	15	49420152	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		49420152	53111240	42	7732										
MYO5A	4644	genome.wustl.edu	37	chr15	52664329	52664329	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	tgtgaaacacacctgctcatCaactttgcgctgcagctgca	8	13	2	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:52664329C>G	ENST00000399231.3	-	21	3052	c.2809G>C	c.(2809-2811)Gat>Cat	p.D937H	MYO5A_ENST00000356338.6_Missense_Mutation_p.D937H|MYO5A_ENST00000358212.6_Missense_Mutation_p.D937H|MYO5A_ENST00000553916.1_Missense_Mutation_p.D937H|MYO5A_ENST00000399233.2_Missense_Mutation_p.D937H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	937					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.D937H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTGCTCATCAACTTTGCGC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											83	81	82					15																	52664329		1950	4145	6095	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2809G>C	15.37:g.52664329C>G	ENSP00000382177:p.Asp937His		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D937H	ENST00000399231.3	37	c.2809	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383498	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.58810	1.83	0.80722	D	1	D;D	0.60160	0.987;0.963	P;P	0.59761	0.863;0.772	T	0.21348	-1.0248	10	0.87932	D	0	.	14.5301	0.67920	0.0:0.93:0.0:0.07	.	937;937	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	937;471;937;937;937;567;937	ENSP00000382177:D937H;ENSP00000382179:D937H;ENSP00000348693:D937H;ENSP00000350945:D937H;ENSP00000451109:D937H	ENSP00000348693:D937H	D	-	1	0	MYO5A	50451621	0.993000	0.37304	0.907000	0.35723	0.980000	0.70556	3.049000	0.49869	2.894000	0.99253	0.655000	0.94253	GAT	MYO5A	-	NULL		0.458	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52664329	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	0.995	G	G	52664329	C	G	52664329	3	3	57	1	0	0	0	0	1	0	0	0	10101	826	29	1	2842	1	MYO5A	15	52664329	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	3244177	52664329	49867063	43	7733										
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157935	65157935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agccggcccctgttagtgccGaaacattgctcagccaggct	11	14	1	0	rs376472778		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:65157935G>A	ENST00000323544.4	+	6	1449	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	441								p.E441K(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGTTAGTGCCGAAACATTGCT	0.602																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU,LYS/GLU	0,4404		0,0,2202	40	43	42		1171,1321	3.2	0	15		42	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PLEKHO2	NM_001195059.1,NM_025201.4	56,56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	391/441,441/491	65157935	1,13001	2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1321G>A	15.37:g.65157935G>A	ENSP00000326706:p.Glu441Lys		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E441K	ENST00000323544.4	37	c.1321	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907258	0.17833	0.0	1.16E-4	ENSG00000241839	ENST00000323544	T	0.46451	0.87	5.13	3.25	0.37280	.	0.107097	0.64402	D	0.000008	T	0.25195	0.0612	N	0.20986	0.625	0.09310	N	0.999993	B;B	0.30937	0.111;0.301	B;B	0.20767	0.031;0.028	T	0.21861	-1.0233	10	0.87932	D	0	.	8.8097	0.34961	0.1734:0.0:0.8266:0.0	.	391;441	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	K	441	ENSP00000326706:E441K	ENSP00000326706:E441K	E	+	1	0	PLEKHO2	62944988	0.949000	0.32298	0.028000	0.17463	0.156000	0.22039	1.418000	0.34782	1.152000	0.42452	0.549000	0.68633	GAA	PLEKHO2	-	NULL		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157935	1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.128	A	A	65157935	G	A	65157935	3	1	57	1	0	0	0	0	1	0	0	0	12109	1059	37	1	1343	1	PLEKHO2	15	65157935	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	12493606	65157935	37373457	44	7734										
GLIS2	84662	genome.wustl.edu	37	chr16	4383433	4383433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gacctcagcctgtcaccaccAtctgggctggactcccccaa	8	18	3	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:4383433A>G	ENST00000262366.3	+	4	1079	c.258A>G	c.(256-258)ccA>ccG	p.P86P	GLIS2_ENST00000433375.1_Silent_p.P86P|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	86	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.P86P(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTCACCACCATCTGGGCTGG	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											39	34	35					16																	4383433		2196	4299	6495	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.258A>G	16.37:g.4383433A>G			B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P86	ENST00000262366.3	37	c.258	CCDS10511.1	16																																																																																			GLIS2	-	NULL		0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	A	NM_032575		4383433	1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	0.912	G	G	4383433	A	G	4383433	2	3	57	1	0	0	0	0	0	0	0	1	6465	204	8	5		5	GLIS2	16	4383433	Silent	SNP	A	TCGA-DR-A0ZL-01A-11D-A10S-08		4383433	85971320	45	7735										
VWA3A	146177	genome.wustl.edu	37	chr16	22122307	22122307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ccagaccccatggaagtcagCgcctccacgtgagtggcttt	11	14	1	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:22122307C>T	ENST00000389398.5	+	8	777	c.681C>T	c.(679-681)agC>agT	p.S227S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	227						extracellular region (GO:0005576)		p.S227S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGGAAGTCAGCGCCTCCACGT	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											58	61	60					16																	22122307		2072	4220	6292	SO:0001819	synonymous_variant	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.681C>T	16.37:g.22122307C>T			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S227	ENST00000389398.5	37	c.681	CCDS45441.1	16																																																																																			VWA3A	-	NULL		0.522	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	C			22122307	1	no_errors	ENST00000389398	ensembl	human	known	70_37	silent	SNP	0.035	T	T	22122307	C	T	22122307	2	4	57	1	0	0	0	0	0	0	0	1	17271	767	27	2		2	VWA3A	16	22122307	Silent	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	17738874	22122307	68232446	46	7736										
TAT	6898	genome.wustl.edu	37	chr16	71605524	71605524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctcaccatgtctccatagatCtcatcagctaagatggggac	8	12	4	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:71605524C>G	ENST00000355962.4	-	7	877	c.744G>C	c.(742-744)gaG>gaC	p.E248D	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	248					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.E248D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CTCCATAGATCTCATCAGCTA	0.363																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												1	Substitution - Missense(1)	cervix(1)											102	95	97					16																	71605524		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.744G>C	16.37:g.71605524C>G	ENSP00000348234:p.Glu248Asp		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.E248D	ENST00000355962.4	37	c.744	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980954	0.74474	.	.	ENSG00000198650	ENST00000355962	D	0.90788	-2.73	5.63	3.68	0.42216	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96586	0.8886	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96668	0.9494	10	0.87932	D	0	-22.2692	12.3701	0.55250	0.0:0.8627:0.0:0.1373	.	248	P17735	ATTY_HUMAN	D	248	ENSP00000348234:E248D	ENSP00000348234:E248D	E	-	3	2	TAT	70163025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.237000	0.32695	0.740000	0.32651	-0.142000	0.14014	GAG	TAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.363	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	C			71605524	-1	no_errors	ENST00000355962	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71605524	C	G	71605524	3	3	57	1	0	0	0	0	1	0	0	0	15620	912	32	1	644	1	TAT	16	71605524	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	49483217	71605524	18749229	47	7737										
ZNF830	91603	genome.wustl.edu	37	chr17	33288808	33288808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctcacgtcctgggaaagcagCaccgagagaaagtggccgag	14	11	1	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr17:33288808C>T	ENST00000361952.3	+	1	260	c.223C>T	c.(223-225)Cac>Tac	p.H75Y	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	75					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H75Y(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GGGAAAGCAGCACCGAGAGAA	0.597																																																	1	Substitution - Missense(1)	cervix(1)											70	69	70					17																	33288808		2203	4300	6503	SO:0001583	missense	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.223C>T	17.37:g.33288808C>T	ENSP00000354518:p.His75Tyr		Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	smart_Znf_U1	p.H75Y	ENST00000361952.3	37	c.223	CCDS32618.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667075	0.88251	.	.	ENSG00000198783	ENST00000361952	D	0.97232	-4.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	M	0.83223	2.63	0.51482	D	0.999923	D	0.64830	0.994	P	0.55055	0.767	D	0.98016	1.0368	10	0.87932	D	0	-21.999	15.093	0.72211	0.0:1.0:0.0:0.0	.	75	Q96NB3	ZN830_HUMAN	Y	75	ENSP00000354518:H75Y	ENSP00000354518:H75Y	H	+	1	0	ZNF830	30312921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.068000	0.71201	2.941000	0.99782	0.655000	0.94253	CAC	ZNF830	-	smart_Znf_U1		0.597	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF830	HGNC	protein_coding	OTTHUMT00000448018.1	C	NM_052857		33288808	1	no_errors	ENST00000361952	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33288808	C	T	33288808	3	4	57	1	0	0	0	0	1	0	0	0	18214	710	25	4	225	4	ZNF830	17	33288808	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		33288808	47906402	48	7738										
TEX2	55852	genome.wustl.edu	37	chr17	62290374	62290374	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agacaaagaacatttctccaGaactagagaacttgtcttca	6	9	3	4			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr17:62290374G>A	ENST00000583097.1	-	2	1376	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	TEX2_ENST00000258991.3_Silent_p.L402L|TEX2_ENST00000584379.1_Silent_p.L402L			Q8IWB9	TEX2_HUMAN	testis expressed 2	402					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.L402L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CATTTCTCCAGAACTAGAGAA	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											94	97	96					17																	62290374		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1204C>T	17.37:g.62290374G>A			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	pfam_DUF2404	p.L402	ENST00000583097.1	37	c.1204		17																																																																																			TEX2	-	NULL		0.463	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	G	NM_018469		62290374	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	silent	SNP	0.997	A	A	62290374	G	A	62290374	2	1	57	1	0	0	0	0	0	0	0	1	15811	933	33	1		1	TEX2	17	62290374	Silent	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	29001566	62290374	18904836	49	7739										
DAPK3	1613	genome.wustl.edu	37	chr19	3964677	3964677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gagtgcaggtagtgaacgccGtccaggatctgcttgaggaa	15	8	1	2			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:3964677G>A	ENST00000545797.2	-	3	618	c.375C>T	c.(373-375)gaC>gaT	p.D125D	DAPK3_ENST00000301264.3_Silent_p.D125D			O43293	DAPK3_HUMAN	death-associated protein kinase 3	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.D125D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGAACGCCGTCCAGGATCT	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											127	126	126					19																	3964677		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.375C>T	19.37:g.3964677G>A			A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.D125	ENST00000545797.2	37	c.375	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.637	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964677	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	0.828	A	A	3964677	G	A	3964677	2	1	57	1	0	0	0	0	0	0	0	1	4242	1136	40	2		2	DAPK3	19	3964677	Silent	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		3964677	55164306	50	7740										
ZSWIM4	65249	genome.wustl.edu	37	chr19	13910663	13910663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	cgcccccagagggcgagcacGatgcccgggtgccctttacc	13	17	0	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:13910663G>A	ENST00000254323.2	+	2	472	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	95							zinc ion binding (GO:0008270)	p.D95N(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGCGAGCACGATGCCCGGGT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											67	63	64					19																	13910663		2203	4300	6503	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.283G>A	19.37:g.13910663G>A	ENSP00000254323:p.Asp95Asn			Missense_Mutation	SNP	pfscan_Znf_SWIM	p.D95N	ENST00000254323.2	37	c.283	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500903	0.85176	.	.	ENSG00000132003	ENST00000254323	T	0.45276	0.9	4.18	4.18	0.49190	.	.	.	.	.	T	0.44582	0.1300	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.53266	0.722	T	0.22417	-1.0217	9	0.16896	T	0.51	-50.2944	14.0257	0.64584	0.0:0.0:1.0:0.0	.	95	Q9H7M6	ZSWM4_HUMAN	N	95	ENSP00000254323:D95N	ENSP00000254323:D95N	D	+	1	0	ZSWIM4	13771663	0.998000	0.40836	0.797000	0.32132	0.748000	0.42578	4.320000	0.59203	1.878000	0.54408	0.555000	0.69702	GAT	ZSWIM4	-	NULL		0.637	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	G	XM_031342		13910663	1	no_errors	ENST00000254323	ensembl	human	known	70_37	missense	SNP	0.992	A	A	13910663	G	A	13910663	3	1	57	1	0	0	0	0	1	0	0	0	18273	1058	37	1	289	1	ZSWIM4	19	13910663	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	9945986	13910663	45218320	51	7741										
NR2C2AP	126382	genome.wustl.edu	37	chr19	19313670	19313670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ttccaaactgccgagtgttgCgattcagcactgaactcacc	8	13	2	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:19313670C>T	ENST00000331552.7	-	2	422	c.59G>A	c.(58-60)cGc>cAc	p.R20H	NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R20H|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.R20H|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.R20H	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	20					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)		p.R20H(1)		breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCGAGTGTTGCGATTCAGCAC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											98	92	94					19																	19313670		2203	4300	6503	SO:0001583	missense	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.59G>A	19.37:g.19313670C>T	ENSP00000332823:p.Arg20His		A6NGP7|B4DW92	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.R20H	ENST00000331552.7	37	c.59	CCDS32967.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251293	0.80135	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	D;D	0.98234	-4.81;-4.81	4.08	3.04	0.35103	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	M	0.74546	2.27	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.71870	0.971;0.975	D	0.98029	1.0375	10	0.72032	D	0.01	-23.1563	7.6606	0.28400	0.0:0.8843:0.0:0.1157	.	20;20	B4DW92;Q86WQ0	.;NR2CA_HUMAN	H	20	ENSP00000332823:R20H;ENSP00000402756:R20H	ENSP00000332823:R20H	R	-	2	0	NR2C2AP	19174670	1.000000	0.71417	0.884000	0.34674	0.905000	0.53344	6.078000	0.71282	0.943000	0.37553	0.462000	0.41574	CGC	NR2C2AP	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.572	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NR2C2AP	HGNC	protein_coding	OTTHUMT00000402936.4	C	NM_176880		19313670	-1	no_errors	ENST00000331552	ensembl	human	known	70_37	missense	SNP	0.999	T	T	19313670	C	T	19313670	3	4	57	1	0	0	0	0	1	0	0	0	10648	768	27	2	376	2	NR2C2AP	19	19313670	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	5403007	19313670	39815313	52	7742										
NR1H2	7376	genome.wustl.edu	37	chr19	50885276	50885276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agttctcgcgggccatgcggCggctgggcctggacgacgct	17	13	1	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:50885276C>T	ENST00000253727.5	+	9	1316	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	NR1H2_ENST00000542413.1_Missense_Mutation_p.R92W|NR1H2_ENST00000593926.1_Missense_Mutation_p.R361W|NR1H2_ENST00000411902.2_Missense_Mutation_p.R264W|POLD1_ENST00000599857.1_5'Flank|NR1H2_ENST00000599105.1_Missense_Mutation_p.R317W|NR1H2_ENST00000598168.1_Missense_Mutation_p.R331W|POLD1_ENST00000440232.2_5'Flank	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	361	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCCATGCGGCGGCTGGGCCT	0.687																																																	0													13	17	15					19																	50885276		2176	4269	6445	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1081C>T	19.37:g.50885276C>T	ENSP00000253727:p.Arg361Trp		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.R361W	ENST00000253727.5	37	c.1081	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485294	0.63962	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	D;D;D	0.96856	-4.15;-4.15;-4.15	3.62	1.37	0.22104	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.142257	0.30732	N	0.008994	D	0.96109	0.8732	L	0.51422	1.61	0.35880	D	0.828872	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.68483	0.958;0.92;0.92	D	0.95135	0.8258	10	0.72032	D	0.01	.	6.7216	0.23332	0.1765:0.7247:0.0:0.0988	.	361;264;362	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	W	92;361;264;361	ENSP00000445074:R92W;ENSP00000253727:R361W;ENSP00000396151:R264W	ENSP00000253727:R361W	R	+	1	2	NR1H2	55577088	1.000000	0.71417	0.957000	0.39632	0.859000	0.49053	1.183000	0.32041	0.314000	0.23086	0.448000	0.29417	CGG	NR1H2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Liver_X_rcpt,prints_Ecdystd_rcpt		0.687	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	C			50885276	1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	0.998	T	T	50885276	C	T	50885276	3	4	57	1	0	0	0	0	1	0	0	0	10641	759	27	2	1107	2	NR1H2	19	50885276	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	31571606	50885276	8243707	53	7743										
ZNF175	7728	genome.wustl.edu	37	chr19	52084764	52084764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agctctatagccatctcttcGcagtgggtgagcacaactga	10	11	2	2	rs376635595		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:52084764G>A	ENST00000262259.2	+	3	551	c.193G>A	c.(193-195)Gca>Aca	p.A65T	ZNF175_ENST00000436511.2_Missense_Mutation_p.A65T|ZNF175_ENST00000596504.1_Missense_Mutation_p.A65T	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A65T(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCATCTCTTCGCAGTGGGTGA	0.547																																																	1	Substitution - Missense(1)	cervix(1)											101	92	95					19																	52084764		2203	4300	6503	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.193G>A	19.37:g.52084764G>A	ENSP00000262259:p.Ala65Thr		A8K9H2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A65T	ENST00000262259.2	37	c.193	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	T	18.64	3.666480	0.67814	.	.	ENSG00000105497	ENST00000262259;ENST00000436511	T;T	0.01787	4.64;4.64	2.47	2.47	0.30058	Krueppel-associated box (4);	.	.	.	.	T	0.01800	0.0057	L	0.31804	0.96	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.45101	-0.9284	9	0.59425	D	0.04	.	7.1487	0.25597	0.0:0.0:0.229:0.7709	.	65	Q9Y473	ZN175_HUMAN	T	65	ENSP00000262259:A65T;ENSP00000440578:A65T	ENSP00000262259:A65T	A	+	1	0	ZNF175	56776576	0.001000	0.12720	0.022000	0.16811	0.810000	0.45777	0.938000	0.28965	0.380000	0.24823	-0.256000	0.11100	GCA	ZNF175	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.547	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	G	NM_007147		52084764	1	no_errors	ENST00000262259	ensembl	human	known	70_37	missense	SNP	0.091	A	A	52084764	G	A	52084764	3	1	57	1	0	0	0	0	1	0	0	0	17775	1087	38	2	199	2	ZNF175	19	52084764	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	1199488	52084764	7044219	54	7744										
KIR3DL1	3811	genome.wustl.edu	37	chr19	55331284	55331284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	agcacttctttctgcacaaaGaggggatctctaaggacccc	9	12	3	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:55331284G>C	ENST00000391728.4	+	4	505	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E158Q|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E158Q|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E63Q|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E158Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E158Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	158	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.E158Q(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTGCACAAAGAGGGGATCTC	0.537																																																	2	Substitution - Missense(2)	cervix(2)											193	172	179					19																	55331284		2185	4192	6377	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.472G>C	19.37:g.55331284G>C	ENSP00000375608:p.Glu158Gln		O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E158Q	ENST00000391728.4	37	c.472	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	10.91	1.484762	0.26598	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00848	5.62;5.62;5.62;5.62;5.62;5.62	1.44	0.344	0.16006	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.837589	0.09566	U	0.784778	T	0.07908	0.0198	H	0.97852	4.09	0.09310	N	1	D;D;P;P	0.65815	0.992;0.995;0.693;0.802	D;D;B;P	0.69479	0.909;0.964;0.344;0.558	T	0.12811	-1.0533	10	0.87932	D	0	.	3.5831	0.07961	0.2649:0.0:0.7351:0.0	.	158;63;158;158	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	Q	158;158;158;136;158;158;63	ENSP00000384528:E158Q;ENSP00000443350:E158Q;ENSP00000442355:E158Q;ENSP00000375608:E158Q;ENSP00000326868:E158Q;ENSP00000350901:E63Q	ENSP00000326868:E158Q	E	+	1	0	KIR3DL1	60023096	0.001000	0.12720	0.009000	0.14445	0.033000	0.12548	0.176000	0.16782	0.183000	0.20059	0.184000	0.17185	GAG	KIR3DL1	-	smart_Ig_sub		0.537	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	G	NM_013289		55331284	1	no_errors	ENST00000402254	ensembl	human	known	70_37	missense	SNP	0.009	C	C	55331284	G	C	55331284	3	2	57	1	0	0	0	0	1	0	0	0	8340	943	33	1	486	1	KIR3DL1	19	55331284	Missense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08	3246520	55331284	3797699	55	7745										
APOBEC3D	140564	genome.wustl.edu	37	chr22	39417539	39417539	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ctgaacatgaatccacagatCaggtaccgctgcccactatg	8	13	1	3			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr22:39417539C>A	ENST00000216099.8	+	1	422	c.15C>A	c.(13-15)atC>atA	p.I5I	APOBEC3D_ENST00000427494.2_Silent_p.I5I|APOBEC3D_ENST00000381568.4_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	5					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.I5I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					ATCCACAGATCAGGTACCGCT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											136	125	129					22																	39417539		2203	4300	6503	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.15C>A	22.37:g.39417539C>A			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.I5	ENST00000216099.8	37	c.15	CCDS46709.1	22																																																																																			APOBEC3D	-	NULL		0.607	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	C	NM_152426		39417539	1	no_errors	ENST00000216099	ensembl	human	known	70_37	silent	SNP	0.019	A	A	39417539	C	A	39417539	2	1	57	1	0	0	0	0	0	0	0	1	792	816	29	3		3	APOBEC3D	22	39417539	Silent	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08		39417539	11887027	56	7746										
GK	2710	genome.wustl.edu	37	chrX	30686131	30686131	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	gccttcttttgttcaaagatGggtggaacaggaccctaagg	12	8	2	1			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:30686131G>A	ENST00000378941.3	+	3	155	c.155G>A	c.(154-156)tGg>tAg	p.W52*	GK_ENST00000378945.3_Nonsense_Mutation_p.W52*|GK_ENST00000378943.3_Nonsense_Mutation_p.W52*|GK_ENST00000378946.3_Nonsense_Mutation_p.W52*|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	52					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.W52*(1)		central_nervous_system(1)|large_intestine(3)	4						GTTCAAAGATGGGTGGAACAG	0.353																																																	1	Substitution - Nonsense(1)	cervix(1)											64	53	57					X																	30686131		2202	4297	6499	SO:0001587	stop_gained	2710			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.155G>A	X.37:g.30686131G>A	ENSP00000368224:p.Trp52*		A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.W52*	ENST00000378941.3	37	c.155		X	.	.	.	.	.	.	.	.	.	.	G	36	5.673389	0.96754	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	.	.	.	5.71	5.71	0.89125	.	0.055265	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4274	0.87530	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000368224:W52X	W	+	2	0	GK	30596052	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.999000	0.76283	2.384000	0.81235	0.513000	0.50165	TGG	GK	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin		0.353	GK-005	PUTATIVE	basic|exp_conf	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056171.1	G	NM_000167		30686131	1	no_errors	ENST00000378943	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	30686131	G	A	30686131	4	1	57	1	0	0	0	0	0	1	0	0	6439	1357	47	4	165	4	GK	23	30686131	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZL-01A-11D-A10S-08		30686131	124584429	57	7747										
SHROOM4	57477	genome.wustl.edu	37	chrX	50378576	50378576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ggctctcataggtggcttggCctggttgctccaggctctcc	13	13	2	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:50378576C>A	ENST00000289292.7	-	4	780	c.497G>T	c.(496-498)gGc>gTc	p.G166V	SHROOM4_ENST00000376020.2_Missense_Mutation_p.G166V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G50V			Q9ULL8	SHRM4_HUMAN	shroom family member 4	166					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.G166V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGTGGCTTGGCCTGGTTGCTC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											80	51	60					X																	50378576		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.497G>T	X.37:g.50378576C>A	ENSP00000289292:p.Gly166Val		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G166V	ENST00000289292.7	37	c.497	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305554	0.23736	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.16457	2.82;2.82;2.34	6.07	6.07	0.98685	.	0.310897	0.36555	N	0.002538	T	0.27063	0.0663	M	0.69823	2.125	0.53688	D	0.999972	P	0.41366	0.747	B	0.40375	0.327	T	0.02093	-1.1215	10	0.66056	D	0.02	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	166	Q9ULL8	SHRM4_HUMAN	V	166;166;50	ENSP00000289292:G166V;ENSP00000365188:G166V;ENSP00000421450:G50V	ENSP00000289292:G166V	G	-	2	0	SHROOM4	50395316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.636000	0.54317	2.574000	0.86865	0.600000	0.82982	GGC	SHROOM4	-	NULL		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50378576	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50378576	C	A	50378576	3	1	57	1	0	0	0	0	1	0	0	0	14326	739	26	4	4008	4	SHROOM4	23	50378576	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	19692445	50378576	104891984	58	7748										
RGAG1	57529	genome.wustl.edu	37	chrX	109696778	109696778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	ttctggagagatgtctatgcCgctaatggaaaccatggcct	11	9	2	1	rs146399635	byFrequency	TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:109696778C>T	ENST00000465301.2	+	3	3179	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978								p.P978L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGTCTATGCCGCTAATGGAA	0.498																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/PRO	3,3832		0,1,2,1631,569	166	151	156		2933	3.9	0	X	dbSNP_134	156	0,6728		0,0,0,2428,1872	no	missense	RGAG1	NM_020769.2	98	0,1,2,4059,2441	TT,TC,T,CC,C		0.0,0.0782,0.0284	probably-damaging	978/1389	109696778	3,10560	2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2933C>T	X.37:g.109696778C>T	ENSP00000419786:p.Pro978Leu		Q9P2M8	Missense_Mutation	SNP	NULL	p.P978L	ENST00000465301.2	37	c.2933	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680634	0.29872	7.82E-4	0.0	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.57752	0.38;0.38	3.89	3.89	0.44902	.	.	.	.	.	T	0.66015	0.2747	L	0.58428	1.81	0.22693	N	0.998848	D	0.76494	0.999	D	0.65773	0.938	T	0.55431	-0.8142	8	.	.	.	-6.0477	12.7884	0.57520	0.0:1.0:0.0:0.0	.	978	Q8NET4	RGAG1_HUMAN	L	978	ENSP00000419786:P978L;ENSP00000441452:P978L	.	P	+	2	0	RGAG1	109583434	0.030000	0.19436	0.025000	0.17156	0.020000	0.10135	1.358000	0.34102	2.174000	0.68829	0.600000	0.82982	CCG	RGAG1	-	NULL		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696778	1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.112	T	T	109696778	C	T	109696778	3	4	57	1	0	0	0	0	1	0	0	0	13304	652	23	2	2935	2	RGAG1	23	109696778	Missense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	59318202	109696778	45573782	59	7749										
ZIC3	7547	genome.wustl.edu	37	chrX	136649493	136649493	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.266666666666667	16	0.000766466481606165	2.45763125763126	5.76007326007326	1.25674325674326	0.324544005242366	0.569890847767481	9	acccctacgcggccggcgctCagtttcctaactacagcccc	8	19	1	0			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:136649493C>T	ENST00000287538.5	+	1	1193	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.Q215*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	215					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q215*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GGCCGGCGCTCAGTTTCCTAA	0.657																																																	1	Substitution - Nonsense(1)	cervix(1)											23	26	25					X																	136649493		2175	4242	6417	SO:0001587	stop_gained	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.643C>T	X.37:g.136649493C>T	ENSP00000287538:p.Gln215*		B2CNW4|Q14DE5|Q5JY75	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q215*	ENST00000287538.5	37	c.643	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	c	42	9.581104	0.99211	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	.	.	.	4.58	4.58	0.56647	.	0.062182	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.0189	0.71613	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000287538:Q215X	Q	+	1	0	ZIC3	136477159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.918000	0.69996	2.100000	0.63781	0.597000	0.82753	CAG	ZIC3	-	NULL		0.657	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649493	1	no_errors	ENST00000287538	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	136649493	C	T	136649493	4	4	57	1	0	0	0	0	0	1	0	0	17710	827	29	1	645	1	ZIC3	23	136649493	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZL-01A-11D-A10S-08	26952715	136649493	18621067	60	7750										
UBE2J2	118424	genome.wustl.edu	37	chr1	1203298	1203298	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgtaaggcaccgggtctttCttaatgcgaaggtagtcctg	12	8	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:1203298C>G	ENST00000349431.6	-	2	294	c.75G>C	c.(73-75)aaG>aaC	p.K25N	UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Missense_Mutation_p.K25N|UBE2J2_ENST00000400930.4_Missense_Mutation_p.K25N	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	25					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.K25N(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGGGTCTTTCTTAATGCGAA	0.572																																																	1	Substitution - Missense(1)	cervix(1)											235	252	246					1																	1203298		2203	4300	6503	SO:0001583	missense	118424			AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	19268	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.75G>C	1.37:g.1203298C>G	ENSP00000305826:p.Lys25Asn		A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K25N	ENST00000349431.6	37	c.75	CCDS14.1	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630176	0.28978	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.72	3.53	0.40419	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.085947	0.85682	D	0.000000	T	0.46386	0.1390	L	0.48362	1.52	0.80722	D	1	D;P	0.58620	0.983;0.898	P;P	0.61477	0.889;0.555	T	0.31696	-0.9934	10	0.33141	T	0.24	.	12.0109	0.53286	0.0:0.832:0.0:0.168	.	25;25	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	N	25	ENSP00000305826:K25N;ENSP00000353653:K25N;ENSP00000383719:K25N;ENSP00000393301:K25N;ENSP00000401898:K25N;ENSP00000424342:K25N	ENSP00000305826:K25N	K	-	3	2	UBE2J2	1193161	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	1.945000	0.40273	1.420000	0.47138	0.655000	0.94253	AAG	UBE2J2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.572	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	UBE2J2	HGNC	protein_coding	OTTHUMT00000005430.1	C	NM_058167		1203298	-1	no_errors	ENST00000400930	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1203298	C	G	1203298	3	3	58	1	0	0	0	0	1	0	0	0	16892	912	32	1	780	1	UBE2J2	1	1203298	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		1203298	248047323	1	7751										
UBE2J2	118424	genome.wustl.edu	37	chr1	1203343	1203343	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcctctgggttgccgtggtCggagccctcttactgctggt	14	12	2	0	rs553380104		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:1203343C>T	ENST00000349431.6	-	2	249	c.30G>A	c.(28-30)ccG>ccA	p.P10P	UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Silent_p.P10P|UBE2J2_ENST00000400930.4_Silent_p.P10P	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	10					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.P10P(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TTGCCGTGGTCGGAGCCCTCT	0.582													C|||	1	0.000199681	0	0	5008	,	,		15351	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											242	258	253					1																	1203343		2203	4300	6503	SO:0001819	synonymous_variant	118424			AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	19268	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.30G>A	1.37:g.1203343C>T			A8MYC7|Q504T9|Q96N26|Q96T84	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P10	ENST00000349431.6	37	c.30	CCDS14.1	1																																																																																			UBE2J2	-	NULL		0.582	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	UBE2J2	HGNC	protein_coding	OTTHUMT00000005430.1	C	NM_058167		1203343	-1	no_errors	ENST00000400930	ensembl	human	known	70_37	silent	SNP	0.016	T	T	1203343	C	T	1203343	2	4	58	1	0	0	0	0	0	0	0	1	16892	871	31	1		1	UBE2J2	1	1203343	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	45	1203343	248047278	2	7752										
PANK4	55229	genome.wustl.edu	37	chr1	2445807	2445807	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttacaagggctgctgcctCagggtctgaagcttgttcca	11	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:2445807C>T	ENST00000378466.3	-	11	1485	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	PANK4_ENST00000435556.3_Silent_p.L452L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	491					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.L491L(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCTGCTGCCTCAGGGTCTGAA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											69	73	72					1																	2445807		2203	4300	6503	SO:0001819	synonymous_variant	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1473G>A	1.37:g.2445807C>T			B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.L491	ENST00000378466.3	37	c.1473	CCDS42.1	1																																																																																			PANK4	-	superfamily_DUF89,pirsf_PanK_long		0.607	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	C			2445807	-1	no_errors	ENST00000378466	ensembl	human	known	70_37	silent	SNP	0.031	T	T	2445807	C	T	2445807	2	4	58	1	0	0	0	0	0	0	0	1	11443	813	29	1		1	PANK4	1	2445807	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1242464	2445807	246804814	3	7753										
MMEL1	79258	genome.wustl.edu	37	chr1	2524328	2524328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtactggtagatcatgcactCtgactgctcccggaagtgct	11	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:2524328C>T	ENST00000378412.3	-	20	2106	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	MMEL1_ENST00000288709.6_Missense_Mutation_p.E640K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E492K			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	649						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E640K(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ATCATGCACTCTGACTGCTCC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											133	105	114					1																	2524328		2202	4300	6502	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1945G>A	1.37:g.2524328C>T	ENSP00000367668:p.Glu649Lys		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E649K	ENST00000378412.3	37	c.1945	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389726	0.11581	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.81739	-1.53;-1.53;-1.53	4.76	-1.21	0.09524	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.639093	0.16427	N	0.214902	T	0.53594	0.1806	N	0.00972	-1.085	0.09310	N	0.999991	B	0.19331	0.035	B	0.24006	0.05	T	0.49588	-0.8924	10	0.40728	T	0.16	-26.453	13.9681	0.64221	0.0:0.217:0.7033:0.0797	.	649	Q495T6	MMEL1_HUMAN	K	492;640;649;492	ENSP00000288709:E640K;ENSP00000367668:E649K;ENSP00000422492:E492K	ENSP00000288709:E640K	E	-	1	0	MMEL1	2514188	0.520000	0.26250	0.052000	0.19188	0.093000	0.18481	1.035000	0.30216	-0.100000	0.12241	0.655000	0.94253	GAG	MMEL1	-	pfam_Peptidase_M13_C		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2524328	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	0.020	T	T	2524328	C	T	2524328	3	4	58	1	0	0	0	0	1	0	0	0	9669	922	32	1	414	1	MMEL1	1	2524328	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	78521	2524328	246726293	4	7754										
KIAA0562	9731	genome.wustl.edu	37	chr1	3745850	3745850	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgaacttcagcctgaatttCtttcagtgctgccagctgcc	8	13	3	2	rs143442406|rs35089650		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:3745850C>G	ENST00000378230.3	-	15	2455	c.2131G>C	c.(2131-2133)Gaa>Caa	p.E711Q	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	711						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.E711Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCCTGAATTTCTTTCAGTGCT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											111	111	111					1																	3745850		2203	4300	6503	SO:0001583	missense	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2131G>C	1.37:g.3745850C>G	ENSP00000367476:p.Glu711Gln		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.E711Q	ENST00000378230.3	37	c.2131	CCDS30571.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.429079|4.429079	0.83667|0.83667	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|T	0.46819|0.43294	0.86|0.95	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.423542|.	0.24267|.	N|.	0.040036|.	T|T	0.52273|0.52273	0.1724|0.1724	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	B|.	0.24426|.	0.103|.	B|.	0.30572|.	0.117|.	T|T	0.53606|0.53606	-0.8415|-0.8415	10|7	0.19590|0.72032	T|D	0.45|0.01	.|.	17.5642|17.5642	0.87914|0.87914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	711|.	O60308|.	CE104_HUMAN|.	Q|N	711|7	ENSP00000367476:E711Q|ENSP00000395283:K7N	ENSP00000367476:E711Q|ENSP00000395283:K7N	E|K	-|-	1|3	0|2	CEP104|CEP104	3735710|3735710	0.992000|0.992000	0.36948|0.36948	0.016000|0.016000	0.15963|0.15963	0.017000|0.017000	0.09413|0.09413	3.654000|3.654000	0.54453|0.54453	2.482000|2.482000	0.83794|0.83794	0.591000|0.591000	0.81541|0.81541	GAA|AAG	CEP104	-	NULL		0.398	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	C	NM_014704		3745850	-1	no_errors	ENST00000378230	ensembl	human	known	70_37	missense	SNP	0.891	G	G	3745850	C	G	3745850	3	3	58	1	0	0	0	0	1	0	0	0	8204	922	32	1	678	1	KIAA0562	1	3745850	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1221522	3745850	245504771	5	7755										
CHD5	26038	genome.wustl.edu	37	chr1	6214952	6214952	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcgggttcttcttggcaatGagtggcctgtagggggagag	17	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:6214952G>C	ENST00000262450.3	-	5	612	c.513C>G	c.(511-513)ctC>ctG	p.L171L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L171L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTTGGCAATGAGTGGCCTGT	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											49	53	52					1																	6214952		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.513C>G	1.37:g.6214952G>C			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L171	ENST00000262450.3	37	c.513	CCDS57.1	1																																																																																			CHD5	-	pfam_CHD_N,superfamily_HMG_superfamily		0.632	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	G	NM_015557		6214952	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	silent	SNP	0.997	C	C	6214952	G	C	6214952	2	2	58	1	0	0	0	0	0	0	0	1	3333	1277	45	1		1	CHD5	1	6214952	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2469102	6214952	243035669	6	7756										
ESPN	83715	genome.wustl.edu	37	chr1	6511783	6511783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggggctgaccacagtgttctCaggcatcgggcagccggcct	15	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:6511783C>T	ENST00000377828.1	+	9	2204	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.S113L|ESPN_ENST00000416731.1_Missense_Mutation_p.S113L	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	679	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)	p.S679L(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACAGTGTTCTCAGGCATCGGG	0.682																																																	1	Substitution - Missense(1)	cervix(1)											22	25	24					1																	6511783		2203	4300	6503	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2036C>T	1.37:g.6511783C>T	ENSP00000367059:p.Ser679Leu		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.S679L	ENST00000377828.1	37	c.2036	CCDS70.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893683	0.91889	.	.	ENSG00000187017	ENST00000377828;ENST00000416731	D;D	0.88431	-2.38;-2.38	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000002	D	0.93609	0.7959	M	0.67953	2.075	0.50467	D	0.999871	D;D	0.89917	0.997;1.0	D;D	0.79784	0.993;0.982	D	0.94236	0.7481	10	0.87932	D	0	-15.4808	17.1311	0.86726	0.0:1.0:0.0:0.0	.	113;679	B1AK53-2;B1AK53	.;ESPN_HUMAN	L	679;113	ENSP00000367059:S679L;ENSP00000399239:S113L	ENSP00000367059:S679L	S	+	2	0	ESPN	6434370	1.000000	0.71417	0.964000	0.40570	0.966000	0.64601	4.464000	0.60134	2.515000	0.84797	0.491000	0.48974	TCA	ESPN	-	NULL		0.682	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	C	NM_031475		6511783	1	no_errors	ENST00000377828	ensembl	human	known	70_37	missense	SNP	0.998	T	T	6511783	C	T	6511783	3	4	58	1	0	0	0	0	1	0	0	0	5266	838	29	1	2070	1	ESPN	1	6511783	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	296831	6511783	242738838	7	7757										
THAP3	90326	genome.wustl.edu	37	chr1	6688663	6688663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catctgctccgagcacttccGgccagagtgcttcagcgcct	10	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:6688663G>A	ENST00000054650.4	+	3	337	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	THAP3_ENST00000377627.3_Missense_Mutation_p.R60Q|THAP3_ENST00000307896.6_Missense_Mutation_p.R60Q	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	60							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R60Q(2)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCACTTCCGGCCAGAGTGC	0.612																																																	2	Substitution - Missense(2)	cervix(2)											67	56	59					1																	6688663		2203	4300	6503	SO:0001583	missense	90326			BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"THAP (C2CH-type zinc finger) domain containing"	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.179G>A	1.37:g.6688663G>A	ENSP00000054650:p.Arg60Gln		Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R60Q	ENST00000054650.4	37	c.179	CCDS55572.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747822	0.30955	.	.	ENSG00000041988	ENST00000054650;ENST00000307896;ENST00000377627	D;D;D	0.96104	-3.91;-3.91;-3.91	5.01	2.86	0.33363	Zinc finger, C2CH-type (4);	0.856007	0.09684	N	0.769331	D	0.89431	0.6713	N	0.25144	0.715	0.09310	N	1	P;P;D	0.53151	0.948;0.948;0.958	B;B;B	0.42916	0.402;0.306;0.353	T	0.81602	-0.0858	10	0.21540	T	0.41	-9.5111	4.8889	0.13717	0.3147:0.0:0.6853:0.0	.	60;60;60	Q8WTV1-4;Q8WTV1-3;Q8WTV1	.;.;THAP3_HUMAN	Q	60	ENSP00000054650:R60Q;ENSP00000311537:R60Q;ENSP00000366854:R60Q	ENSP00000054650:R60Q	R	+	2	0	THAP3	6611250	0.016000	0.18221	0.175000	0.22980	0.323000	0.28346	1.452000	0.35156	1.107000	0.41642	-0.350000	0.07774	CGG	THAP3	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.612	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	THAP3	HGNC	protein_coding	OTTHUMT00000004203.1	G	NM_138350		6688663	1	no_errors	ENST00000054650	ensembl	human	known	70_37	missense	SNP	0.018	A	A	6688663	G	A	6688663	3	1	58	1	0	0	0	0	1	0	0	0	15875	1116	39	2	185	2	THAP3	1	6688663	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	176880	6688663	242561958	8	7758										
PER3	8863	genome.wustl.edu	37	chr1	7895914	7895914	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaggacgtacagaaaaaaGaaacatttcctaatgtcgcc	7	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:7895914G>C	ENST00000361923.2	+	19	3455	c.3280G>C	c.(3280-3282)Gaa>Caa	p.E1094Q	PER3_ENST00000377532.3_Missense_Mutation_p.E1103Q	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1094					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E1094Q(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAAAAAAGAAACATTTCC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											95	90	92					1																	7895914		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3280G>C	1.37:g.7895914G>C	ENSP00000355031:p.Glu1094Gln		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E1094Q	ENST00000361923.2	37	c.3280	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584057	0.28268	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.13420	2.59;2.59	3.99	1.03	0.20045	Period circadian-like, C-terminal (1);	1.056690	0.07304	N	0.874622	T	0.28566	0.0707	L	0.50333	1.59	0.09310	N	1	D;P;P	0.76494	0.999;0.926;0.94	D;P;P	0.74674	0.984;0.7;0.801	T	0.21759	-1.0236	10	0.42905	T	0.14	.	8.0528	0.30587	0.2064:0.0:0.7936:0.0	.	143;1103;1094	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	Q	1103;1094;287	ENSP00000366755:E1103Q;ENSP00000355031:E1094Q	ENSP00000355031:E1094Q	E	+	1	0	PER3	7818501	0.004000	0.15560	0.000000	0.03702	0.385000	0.30292	1.382000	0.34374	0.031000	0.15407	0.563000	0.77884	GAA	PER3	-	pfam_Period_circadian-like_C		0.438	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7895914	1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.001	C	C	7895914	G	C	7895914	3	2	58	1	0	0	0	0	1	0	0	0	11755	943	33	1	3354	1	PER3	1	7895914	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1207251	7895914	241354707	9	7759										
RERE	473	genome.wustl.edu	37	chr1	8419925	8419925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcgggctttctgctcagcctCgcgcttggccttctcaatgg	11	14	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:8419925C>T	ENST00000337907.3	-	20	4151	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	RERE_ENST00000400908.2_Missense_Mutation_p.E1173K|RERE_ENST00000476556.1_Missense_Mutation_p.E619K|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.E905K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1173					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1173K(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTCAGCCTCGCGCTTGGCC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											51	52	52					1																	8419925		2203	4300	6503	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3517G>A	1.37:g.8419925C>T	ENSP00000338629:p.Glu1173Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.E1173K	ENST00000337907.3	37	c.3517	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523074	0.44866	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.54279	0.58;2.98;2.98;0.58	5.42	4.51	0.55191	.	.	.	.	.	T	0.60431	0.2268	M	0.70275	2.135	0.58432	D	0.999998	D	0.60160	0.987	P	0.50405	0.64	T	0.64153	-0.6474	9	0.49607	T	0.09	-11.4217	13.206	0.59795	0.0:0.9234:0.0:0.0766	.	1173	Q9P2R6	RERE_HUMAN	K	1173;905;619;1173	ENSP00000338629:E1173K;ENSP00000366684:E905K;ENSP00000422246:E619K;ENSP00000383700:E1173K	ENSP00000338629:E1173K	E	-	1	0	RERE	8342512	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.752000	0.85141	1.277000	0.44412	-0.136000	0.14681	GAG	RERE	-	pfam_Atrophin-like		0.662	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	C			8419925	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8419925	C	T	8419925	3	4	58	1	0	0	0	0	1	0	0	0	13261	893	31	1	1203	1	RERE	1	8419925	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	524011	8419925	240830696	10	7760										
RERE	473	genome.wustl.edu	37	chr1	8426005	8426005	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgcttcgggggtcttcttCcaatagtaatagaaggtgat	12	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:8426005C>T	ENST00000337907.3	-	14	1948	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	RERE_ENST00000400908.2_Nonsense_Mutation_p.W438*|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Nonsense_Mutation_p.W438*|RERE_ENST00000460659.1_5'UTR|RERE_ENST00000377464.1_Nonsense_Mutation_p.W170*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	438	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W438*(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCTTCTTCCAATAGTAAT	0.622																																																	1	Substitution - Nonsense(1)	cervix(1)											42	43	43					1																	8426005		2203	4300	6503	SO:0001587	stop_gained	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1314G>A	1.37:g.8426005C>T	ENSP00000338629:p.Trp438*		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.W438*	ENST00000337907.3	37	c.1314	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.884129	0.97062	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6306	19.4162	0.94700	0.0:1.0:0.0:0.0	.	.	.	.	X	438;170;438;438	.	ENSP00000338629:W438X	W	-	3	0	RERE	8348592	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TGG	RERE	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.622	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	C			8426005	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	8426005	C	T	8426005	4	4	58	1	0	0	0	0	0	1	0	0	13261	856	30	1	3430	1	RERE	1	8426005	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6080	8426005	240824616	11	7761										
PGD	5226	genome.wustl.edu	37	chr1	10464329	10464329	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcatgccaggagggaacaaaGaagcgtggtgagtgccatca	14	8	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:10464329G>C	ENST00000270776.8	+	5	480	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	PGD_ENST00000541529.1_Missense_Mutation_p.E126Q|PGD_ENST00000538557.1_Missense_Mutation_p.E135Q	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	148					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.E148Q(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	AGGGAACAAAGAAGCGTGGTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											71	67	68					1																	10464329		2203	4300	6503	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.442G>C	1.37:g.10464329G>C	ENSP00000270776:p.Glu148Gln		A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.E148Q	ENST00000270776.8	37	c.442	CCDS113.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438832	0.43326	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.51325	0.71;0.74;0.75	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.214581	0.48767	D	0.000170	T	0.46347	0.1388	L	0.58583	1.82	0.58432	D	0.999995	B;B	0.06786	0.001;0.0	B;B	0.12837	0.004;0.008	T	0.45760	-0.9239	10	0.62326	D	0.03	-26.6876	14.3092	0.66405	0.0:0.1484:0.8516:0.0	.	126;148	F5H7U0;P52209	.;6PGD_HUMAN	Q	126;94;148;135	ENSP00000442285:E126Q;ENSP00000270776:E148Q;ENSP00000437822:E135Q	ENSP00000270776:E148Q	E	+	1	0	PGD	10386916	1.000000	0.71417	0.505000	0.27651	0.361000	0.29550	6.638000	0.74309	2.479000	0.83701	0.561000	0.74099	GAA	PGD	-	pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox		0.557	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1	G	NM_002631		10464329	1	no_errors	ENST00000270776	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10464329	G	C	10464329	3	2	58	1	0	0	0	0	1	0	0	0	11811	943	33	1	460	1	PGD	1	10464329	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2038324	10464329	238786292	12	7762										
TARDBP	23435	genome.wustl.edu	37	chr1	11073843	11073843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgagcccattgaaataccatCggaagacgatgggacggtgc	13	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:11073843C>T	ENST00000240185.3	+	2	173	c.59C>T	c.(58-60)tCg>tTg	p.S20L	TARDBP_ENST00000439080.2_5'UTR|TARDBP_ENST00000315091.3_Missense_Mutation_p.S20L	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	20					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S20L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GAAATACCATCGGAAGACGAT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											49	43	45					1																	11073843		2203	4300	6503	SO:0001583	missense	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.59C>T	1.37:g.11073843C>T	ENSP00000240185:p.Ser20Leu		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S20L	ENST00000240185.3	37	c.59	CCDS122.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259541	0.59321	.	.	ENSG00000120948	ENST00000240185;ENST00000315091	D;D	0.83914	-1.78;-1.78	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	N	0.22421	0.69	0.80722	D	1	B	0.16802	0.019	B	0.12837	0.008	T	0.67933	-0.5542	10	0.18710	T	0.47	-11.559	19.0046	0.92844	0.0:1.0:0.0:0.0	.	20	Q13148	TADBP_HUMAN	L	20	ENSP00000240185:S20L;ENSP00000313129:S20L	ENSP00000240185:S20L	S	+	2	0	TARDBP	10996430	1.000000	0.71417	0.940000	0.37924	0.976000	0.68499	5.817000	0.69229	2.481000	0.83766	0.650000	0.86243	TCG	TARDBP	-	NULL		0.468	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	HGNC	protein_coding	OTTHUMT00000006063.1	C	NM_007375		11073843	1	no_errors	ENST00000240185	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11073843	C	T	11073843	3	4	58	1	0	0	0	0	1	0	0	0	15587	893	31	1	61	1	TARDBP	1	11073843	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	609514	11073843	238176778	13	7763										
MTHFR	4524	genome.wustl.edu	37	chr1	11855208	11855208	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcacctctgtggtagccatCtcgcggttgagggtgtagaa	14	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:11855208C>T	ENST00000376592.1	-	5	1106	c.978G>A	c.(976-978)gaG>gaA	p.E326E	MTHFR_ENST00000376585.1_Silent_p.E367E|MTHFR_ENST00000376583.3_Silent_p.E367E|MTHFR_ENST00000376590.3_Silent_p.E326E			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	326					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.E326E(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TGGTAGCCATCTCGCGGTTGA	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											73	74	74					1																	11855208		2203	4300	6503	SO:0001819	synonymous_variant	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.978G>A	1.37:g.11855208C>T			B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.E367	ENST00000376592.1	37	c.1101	CCDS137.1	1																																																																																			MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk		0.637	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	C	NM_005957		11855208	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11855208	C	T	11855208	2	4	58	1	0	0	0	0	0	0	0	1	9954	912	32	1		1	MTHFR	1	11855208	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	781365	11855208	237395413	14	7764										
PLOD1	5351	genome.wustl.edu	37	chr1	12009904	12009904	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggcagaaggtccggctgctGaagaaagctctggagaagca	16	8	1	4	rs371574381		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:12009904G>A	ENST00000196061.4	+	3	270	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PLOD1_ENST00000376369.3_Silent_p.L128L|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	81					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.L81L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TCCGGCTGCTGAAGAAAGCTC	0.612																																																	2	Substitution - coding silent(2)	cervix(2)											125	128	127					1																	12009904		2203	4300	6503	SO:0001819	synonymous_variant	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.243G>A	1.37:g.12009904G>A			B4DR87|Q96AV9|Q9H132	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L128	ENST00000196061.4	37	c.384	CCDS142.1	1																																																																																			PLOD1	-	NULL		0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	G	NM_000302		12009904	1	no_errors	ENST00000376369	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12009904	G	A	12009904	2	1	58	1	0	0	0	0	0	0	0	1	12125	1277	45	1		1	PLOD1	1	12009904	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	154696	12009904	237240717	15	7765										
DHRS3	9249	genome.wustl.edu	37	chr1	12677172	12677172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtacctttctggcgccgCgctccgcgaactcgcgggcg	14	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:12677172C>T	ENST00000376223.2	-	1	565	c.182G>A	c.(181-183)cGc>cAc	p.R61H	DHRS3_ENST00000482265.1_5'Flank|RP11-474O21.5_ENST00000606790.1_lincRNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	61					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)	p.R61H(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTGGCGCCGCGCTCCGCGAA	0.746																																																	1	Substitution - Missense(1)	cervix(1)											19	23	22					1																	12677172		2195	4277	6472	SO:0001583	missense	9249			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.182G>A	1.37:g.12677172C>T	ENSP00000365397:p.Arg61His		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R61H	ENST00000376223.2	37	c.182	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208849	0.39003	.	.	ENSG00000162496	ENST00000376223	D	0.88509	-2.39	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.057178	0.64402	D	0.000001	T	0.81389	0.4812	L	0.35593	1.075	0.49299	D	0.999772	B;B;B	0.28667	0.002;0.219;0.004	B;B;B	0.26310	0.001;0.068;0.002	T	0.76677	-0.2871	10	0.21014	T	0.42	.	10.937	0.47251	0.0:0.9142:0.0:0.0858	.	61;61;61	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	H	61	ENSP00000365397:R61H	ENSP00000365397:R61H	R	-	2	0	DHRS3	12599759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.571000	0.53841	2.318000	0.78349	0.462000	0.41574	CGC	DHRS3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR		0.746	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	C	NM_004753		12677172	-1	no_errors	ENST00000376223	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12677172	C	T	12677172	3	4	58	1	0	0	0	0	1	0	0	0	4501	768	27	2	750	2	DHRS3	1	12677172	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	667268	12677172	236573449	16	7766										
TMEM51	55092	genome.wustl.edu	37	chr1	15546027	15546027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgacgtggaggccagccctGggaacccccctgacaggcag	14	15	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:15546027G>A	ENST00000428417.1	+	3	996	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	TMEM51_ENST00000376008.2_Missense_Mutation_p.G184R|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.G184R|TMEM51_ENST00000400796.3_Missense_Mutation_p.G184R	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	184						integral component of membrane (GO:0016021)		p.G184R(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GGCCAGCCCTGGGAACCCCCC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											59	67	64					1																	15546027		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.550G>A	1.37:g.15546027G>A	ENSP00000394899:p.Gly184Arg		A8K819	Missense_Mutation	SNP	NULL	p.G184R	ENST00000428417.1	37	c.550	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979095	0.53827	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.81	4.81	0.61882	.	0.376577	0.29956	N	0.010766	T	0.28400	0.0702	L	0.36672	1.1	0.36706	D	0.880386	B	0.24368	0.102	B	0.26094	0.066	T	0.25082	-1.0142	10	0.56958	D	0.05	-2.4227	15.8938	0.79322	0.0:0.0:1.0:0.0	.	184	Q9NW97	TMM51_HUMAN	R	184	ENSP00000394899:G184R;ENSP00000365182:G184R;ENSP00000383600:G184R;ENSP00000365176:G184R	ENSP00000303666:G184R	G	+	1	0	TMEM51	15418614	0.988000	0.35896	0.775000	0.31657	0.477000	0.33069	4.862000	0.62976	2.608000	0.88229	0.555000	0.69702	GGG	TMEM51	-	NULL		0.552	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	G	NM_018022		15546027	1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.906	A	A	15546027	G	A	15546027	3	1	58	1	0	0	0	0	1	0	0	0	16207	1348	47	4	556	4	TMEM51	1	15546027	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2868855	15546027	233704594	17	7767										
SPEN	23013	genome.wustl.edu	37	chr1	16257906	16257906	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggtgttgaggaaggttcatCaggtgaccagccgccttatc	14	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16257906C>G	ENST00000375759.3	+	11	5375	c.5171C>G	c.(5170-5172)tCa>tGa	p.S1724*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1724					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1724*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAGGTTCATCAGGTGACCAG	0.592																																																	1	Substitution - Nonsense(1)	cervix(1)											137	148	144					1																	16257906		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5171C>G	1.37:g.16257906C>G	ENSP00000364912:p.Ser1724*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S1724*	ENST00000375759.3	37	c.5171	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.468319	0.99565	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.16	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	0.0045	13.9448	0.64077	0.0:0.9263:0.0:0.0737	.	.	.	.	X	1724	.	ENSP00000364912:S1724X	S	+	2	0	SPEN	16130493	0.003000	0.15002	0.001000	0.08648	0.471000	0.32888	1.984000	0.40658	1.163000	0.42636	-0.356000	0.07607	TCA	SPEN	-	NULL		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16257906	1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	0.003	G	G	16257906	C	G	16257906	4	3	58	1	0	0	0	0	0	1	0	0	15068	838	29	1	5213	1	SPEN	1	16257906	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	711879	16257906	232992715	18	7768										
SPEN	23013	genome.wustl.edu	37	chr1	16259072	16259072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagcacaggcaggggagaggGaatctggggtggtggcagtc	20	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16259072G>C	ENST00000375759.3	+	11	6541	c.6337G>C	c.(6337-6339)Gaa>Caa	p.E2113Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2113					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E2113Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGGAGAGGGAATCTGGGGT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											82	91	88					1																	16259072		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6337G>C	1.37:g.16259072G>C	ENSP00000364912:p.Glu2113Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E2113Q	ENST00000375759.3	37	c.6337	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393142	0.11638	.	.	ENSG00000065526	ENST00000375759	T	0.10668	2.85	5.16	5.16	0.70880	.	.	.	.	.	T	0.15132	0.0365	M	0.64997	1.995	0.33289	D	0.563281	P	0.42827	0.791	B	0.37650	0.255	T	0.17623	-1.0363	9	0.31617	T	0.26	-20.1733	18.6457	0.91409	0.0:0.0:1.0:0.0	.	2113	Q96T58	MINT_HUMAN	Q	2113	ENSP00000364912:E2113Q	ENSP00000364912:E2113Q	E	+	1	0	SPEN	16131659	0.999000	0.42202	0.145000	0.22337	0.191000	0.23601	4.683000	0.61679	2.411000	0.81874	0.462000	0.41574	GAA	SPEN	-	NULL		0.517	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16259072	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.927	C	C	16259072	G	C	16259072	3	2	58	1	0	0	0	0	1	0	0	0	15068	1175	41	1	6379	1	SPEN	1	16259072	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1166	16259072	232991549	19	7769										
SPEN	23013	genome.wustl.edu	37	chr1	16261839	16261839	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagtggacccgggccatcctCattcccaagggcaagccacc	10	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16261839C>G	ENST00000375759.3	+	11	9308	c.9104C>G	c.(9103-9105)tCa>tGa	p.S3035*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3035					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S3035*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGGCCATCCTCATTCCCAAGG	0.607																																																	1	Substitution - Nonsense(1)	cervix(1)											129	116	121					1																	16261839		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9104C>G	1.37:g.16261839C>G	ENSP00000364912:p.Ser3035*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S3035*	ENST00000375759.3	37	c.9104	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.196964	0.99825	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.54	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-2.6393	14.8843	0.70555	0.0:0.9299:0.0:0.0701	.	.	.	.	X	3035	.	ENSP00000364912:S3035X	S	+	2	0	SPEN	16134426	0.505000	0.26131	0.075000	0.20258	0.329000	0.28539	2.385000	0.44371	1.312000	0.45043	0.556000	0.70494	TCA	SPEN	-	NULL		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16261839	1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	0.547	G	G	16261839	C	G	16261839	4	3	58	1	0	0	0	0	0	1	0	0	15068	838	29	1	9146	1	SPEN	1	16261839	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2767	16261839	232988782	20	7770										
SPEN	23013	genome.wustl.edu	37	chr1	16262059	16262059	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actcccacgctgcccagtatCacctacagcatccggccaga	7	18	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16262059C>G	ENST00000375759.3	+	11	9528	c.9324C>G	c.(9322-9324)atC>atG	p.I3108M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3108					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.I3108M(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCAGTATCACCTACAGCA	0.632																																																	1	Substitution - Missense(1)	cervix(1)											69	59	63					1																	16262059		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9324C>G	1.37:g.16262059C>G	ENSP00000364912:p.Ile3108Met		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.I3108M	ENST00000375759.3	37	c.9324	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	7.993	0.753807	0.15778	.	.	ENSG00000065526	ENST00000375759	T	0.11821	2.74	5.1	4.12	0.48240	.	.	.	.	.	T	0.10208	0.0250	L	0.29908	0.895	0.34547	D	0.710895	P	0.44090	0.826	B	0.41917	0.37	T	0.12604	-1.0541	9	0.30078	T	0.28	-12.1403	7.4236	0.27085	0.0:0.4851:0.4188:0.096	.	3108	Q96T58	MINT_HUMAN	M	3108	ENSP00000364912:I3108M	ENSP00000364912:I3108M	I	+	3	3	SPEN	16134646	0.698000	0.27777	1.000000	0.80357	0.982000	0.71751	-0.124000	0.10595	2.377000	0.81083	0.491000	0.48974	ATC	SPEN	-	NULL		0.632	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16262059	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16262059	C	G	16262059	3	3	58	1	0	0	0	0	1	0	0	0	15068	816	29	1	9366	1	SPEN	1	16262059	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	220	16262059	232988562	21	7771										
EPHA2	1969	genome.wustl.edu	37	chr1	16475043	16475043	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggccagggaaggtgcatcaGagccggcgatggtctcaggg	18	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16475043G>C	ENST00000358432.5	-	3	807	c.653C>G	c.(652-654)tCt>tGt	p.S218C	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	218	Cys-rich.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S218C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGTGCATCAGAGCCGGCGAT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											58	59	58					1																	16475043		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.653C>G	1.37:g.16475043G>C	ENSP00000351209:p.Ser218Cys		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.S218C	ENST00000358432.5	37	c.653	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231885	0.22626	.	.	ENSG00000142627	ENST00000358432	T	0.74106	-0.81	5.07	5.07	0.68467	.	0.122077	0.37623	N	0.002007	T	0.81659	0.4869	L	0.55990	1.75	0.37032	D	0.896736	B;D	0.61080	0.314;0.989	B;P	0.60682	0.079;0.878	D	0.86058	0.1530	10	0.87932	D	0	.	15.9393	0.79743	0.0:0.0:1.0:0.0	.	218;218	B5A968;P29317	.;EPHA2_HUMAN	C	218	ENSP00000351209:S218C	ENSP00000351209:S218C	S	-	2	0	EPHA2	16347630	0.998000	0.40836	0.882000	0.34594	0.078000	0.17371	4.802000	0.62539	2.358000	0.79984	0.511000	0.50034	TCT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt		0.657	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16475043	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	0.937	C	C	16475043	G	C	16475043	3	2	58	1	0	0	0	0	1	0	0	0	5179	942	33	1	2337	1	EPHA2	1	16475043	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	212984	16475043	232775578	22	7772										
FBXO42	54455	genome.wustl.edu	37	chr1	16577299	16577299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtatgcaggctggtttcagGaggtccaaccacagaactgc	13	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16577299G>T	ENST00000375592.3	-	10	2236	c.2020C>A	c.(2020-2022)Cct>Act	p.P674T		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	674								p.P674T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGGTTTCAGGAGGTCCAACC	0.468																																																	1	Substitution - Missense(1)	cervix(1)											191	182	185					1																	16577299		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2020C>A	1.37:g.16577299G>T	ENSP00000364742:p.Pro674Thr		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.P674T	ENST00000375592.3	37	c.2020	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896380	0.72639	.	.	ENSG00000037637	ENST00000375592	T	0.05258	3.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.39057	-0.9632	10	0.66056	D	0.02	-14.8175	18.7864	0.91957	0.0:0.0:1.0:0.0	.	674	Q6P3S6	FBX42_HUMAN	T	674	ENSP00000364742:P674T	ENSP00000364742:P674T	P	-	1	0	FBXO42	16449886	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	9.576000	0.98192	2.767000	0.95098	0.655000	0.94253	CCT	FBXO42	-	NULL		0.468	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	G			16577299	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16577299	G	T	16577299	3	4	58	1	0	0	0	0	1	0	0	0	5769	1174	41	3	137	3	FBXO42	1	16577299	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	102256	16577299	232673322	23	7773										
ALDH4A1	8659	genome.wustl.edu	37	chr1	19203721	19203721	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccttggcatcaatcactgcaGagaagaaggtcccaaaatcc	8	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:19203721G>C	ENST00000375341.3	-	11	1423	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S329C|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S389C|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S389C	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	389					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.S389C(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATCACTGCAGAGAAGAAGGT	0.617																																																	2	Substitution - Missense(2)	cervix(2)											59	50	53					1																	19203721		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1166C>G	1.37:g.19203721G>C	ENSP00000364490:p.Ser389Cys		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.S389C	ENST00000375341.3	37	c.1166	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066785	0.76301	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.46	4.46	0.54185	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.322809	0.34110	N	0.004257	D	0.88104	0.6347	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90135	0.4209	10	0.87932	D	0	-17.5601	16.036	0.80628	0.0:0.0:1.0:0.0	.	389	P30038	AL4A1_HUMAN	C	389;389;389;329	ENSP00000290597:S389C;ENSP00000364490:S389C;ENSP00000446071:S389C;ENSP00000442988:S329C	ENSP00000290597:S389C	S	-	2	0	ALDH4A1	19076308	1.000000	0.71417	0.929000	0.37066	0.905000	0.53344	7.072000	0.76777	2.201000	0.70794	0.655000	0.94253	TCT	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.617	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	G			19203721	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	missense	SNP	0.999	C	C	19203721	G	C	19203721	3	2	58	1	0	0	0	0	1	0	0	0	501	942	33	1	545	1	ALDH4A1	1	19203721	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2626422	19203721	230046900	24	7774										
HSPG2	3339	genome.wustl.edu	37	chr1	22159062	22159062	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggccaggttggtggggctCcctgggactcgcttctgccc	15	13	1	0	rs543398392		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:22159062C>T	ENST00000374695.3	-	81	11212	c.11133G>A	c.(11131-11133)ggG>ggA	p.G3711G	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3711	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.G3711G(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGTGGGGCTCCCTGGGACTC	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											68	69	69					1																	22159062		2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11133G>A	1.37:g.22159062C>T			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.G3711	ENST00000374695.3	37	c.11133	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22159062	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22159062	C	T	22159062	2	4	58	1	0	0	0	0	0	0	0	1	7450	842	30	1		1	HSPG2	1	22159062	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2955341	22159062	227091559	25	7775										
RCAN3	11123	genome.wustl.edu	37	chr1	24861651	24861651	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggttcatgtctgtgaaagtGaaactgaagaggaagaagag	14	3	2	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:24861651G>A	ENST00000374395.4	+	5	923	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RCAN3_ENST00000436717.2_Missense_Mutation_p.E194K|RCAN3_ENST00000538532.1_Missense_Mutation_p.E146K|RCAN3_ENST00000374393.2_Silent_p.V88V|RCAN3_ENST00000412742.2_Silent_p.V146V	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	204					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.E204K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CTGTGAAAGTGAAACTGAAGA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											49	51	51					1																	24861651		2203	4300	6503	SO:0001583	missense	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.610G>A	1.37:g.24861651G>A	ENSP00000363516:p.Glu204Lys		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.E204K	ENST00000374395.4	37	c.610	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	G	37	5.998998	0.97189	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.46819	0.87;0.89;0.86	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.64997	1.995	0.80722	D	1	D;P;D	0.76494	0.997;0.944;0.999	D;P;D	0.85130	0.973;0.81;0.997	T	0.65845	-0.6069	10	0.46703	T	0.11	-4.3321	19.9478	0.97189	0.0:0.0:1.0:0.0	.	146;194;204	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	K	204;194;146	ENSP00000363516:E204K;ENSP00000414447:E194K;ENSP00000445401:E146K	ENSP00000363516:E204K	E	+	1	0	RCAN3	24734238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.712000	0.92718	0.591000	0.81541	GAA	RCAN3	-	pfam_Calcipressin		0.502	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	G			24861651	1	no_errors	ENST00000374395	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24861651	G	A	24861651	3	1	58	1	0	0	0	0	1	0	0	0	13200	1291	45	1	624	1	RCAN3	1	24861651	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2702589	24861651	224388970	26	7776										
CCDC21	64793	genome.wustl.edu	37	chr1	26603650	26603650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcacccagagactcagctaGatttgcagaagccagatgtg	11	10	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:26603650G>C	ENST00000252992.4	+	14	2286	c.2155G>C	c.(2155-2157)Gat>Cat	p.D719H	CEP85_ENST00000451429.2_Missense_Mutation_p.D668H|SH3BGRL3_ENST00000319041.6_5'Flank|SH3BGRL3_ENST00000270792.5_5'Flank|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	719						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.D719H(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GACTCAGCTAGATTTGCAGAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											195	187	190					1																	26603650		2203	4300	6503	SO:0001583	missense	64793			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2155G>C	1.37:g.26603650G>C	ENSP00000252992:p.Asp719His		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.D719H	ENST00000252992.4	37	c.2155	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418976|4.418976	0.83559|0.83559	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11712|.	2.75;2.75|.	5.92|5.92	5.0|5.0	0.66597|0.66597	.|.	0.092980|.	0.64402|.	D|.	0.000001|.	T|.	0.69548|.	0.3123|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.78314|.	0.964;0.965;0.991|.	T|.	0.68538|.	-0.5382|.	10|.	0.66056|.	D|.	0.02|.	-15.0699|-15.0699	14.7955|14.7955	0.69873|0.69873	0.0:0.0:0.8556:0.1444|0.0:0.0:0.8556:0.1444	.|.	668;719;718|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	H|Y	668;719|391	ENSP00000417002:D668H;ENSP00000252992:D719H|.	ENSP00000252992:D719H|.	D|X	+|+	1|3	0|2	CEP85|CEP85	26476237|26476237	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.941000|0.941000	0.58515|0.58515	9.022000|9.022000	0.93678|0.93678	1.497000|1.497000	0.48584|0.48584	0.561000|0.561000	0.74099|0.74099	GAT|TAG	CEP85	-	NULL		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	G	NM_022778		26603650	1	no_errors	ENST00000252992	ensembl	human	known	70_37	missense	SNP	0.999	C	C	26603650	G	C	26603650	3	2	58	1	0	0	0	0	1	0	0	0	2801	942	33	1	2205	1	CCDC21	1	26603650	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1741999	26603650	222646971	27	7777										
LIN28A	79727	genome.wustl.edu	37	chr1	26752837	26752837	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcagccatatggtagcctCatgtccgctgaaggcccagc	10	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:26752837C>G	ENST00000326279.6	+	4	632	c.518C>G	c.(517-519)tCa>tGa	p.S173*	LIN28A_ENST00000254231.4_Nonsense_Mutation_p.S173*	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	173					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S173*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATGGTAGCCTCATGTCCGCTG	0.557																																																	1	Substitution - Nonsense(1)	cervix(1)											63	61	62					1																	26752837		2203	4300	6503	SO:0001587	stop_gained	79727			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"Zinc fingers, CCHC domain containing"	15986	protein-coding gene	gene with protein product		611043	"lin-28 homolog (C. elegans)"	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.518C>G	1.37:g.26752837C>G	ENSP00000363314:p.Ser173*			Nonsense_Mutation	SNP	pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.S173*	ENST00000326279.6	37	c.518	CCDS280.1	1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.832901	0.71258	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	.	.	.	4.71	4.71	0.59529	.	0.811389	0.10491	N	0.668428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5175	0.44898	0.3038:0.6962:0.0:0.0	.	.	.	.	X	173	.	ENSP00000254231:S173X	S	+	2	0	LIN28A	26625424	0.092000	0.21681	0.990000	0.47175	0.984000	0.73092	2.270000	0.43355	2.444000	0.82710	0.555000	0.69702	TCA	LIN28A	-	superfamily_Znf_CCHC,smart_Znf_CCHC		0.557	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28A	HGNC	protein_coding	OTTHUMT00000009891.2	C	NM_024674		26752837	1	no_errors	ENST00000254231	ensembl	human	known	70_37	nonsense	SNP	0.926	G	G	26752837	C	G	26752837	4	3	58	1	0	0	0	0	0	1	0	0	8826	838	29	1	532	1	LIN28A	1	26752837	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	149187	26752837	222497784	28	7778										
SLC9A1	6548	genome.wustl.edu	37	chr1	27440753	27440753	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctctccgggacgatgcttGagatagtggggatcacatgg	15	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:27440753G>C	ENST00000263980.3	-	2	952	c.377C>G	c.(376-378)tCa>tGa	p.S126*	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Nonsense_Mutation_p.S126*	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	126					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.S126*(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GACGATGCTTGAGATAGTGGG	0.637																																																	2	Substitution - Nonsense(2)	cervix(1)|kidney(1)											40	41	41					1																	27440753		2203	4299	6502	SO:0001587	stop_gained	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.377C>G	1.37:g.27440753G>C	ENSP00000263980:p.Ser126*		B1ALD6|D3DPL4|Q96EM2	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S126*	ENST00000263980.3	37	c.377	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.336982	0.98767	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.0453	0.93018	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000263980:S126X	S	-	2	0	SLC9A1	27313340	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	9.823000	0.99369	2.751000	0.94390	0.655000	0.94253	TCA	SLC9A1	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.637	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27440753	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	27440753	G	C	27440753	4	2	58	1	0	0	0	0	0	1	0	0	14739	1294	45	1	2114	1	SLC9A1	1	27440753	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	687916	27440753	221809868	29	7779										
PPP1R8	5511	genome.wustl.edu	37	chr1	28169737	28169737	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcccacaacaagcggatttCtacccttaccattgaggagg	9	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:28169737C>G	ENST00000311772.5	+	5	591	c.533C>G	c.(532-534)tCt>tGt	p.S178C	PPP1R8_ENST00000373931.4_Missense_Mutation_p.S36C|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	178	Interaction with EED.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)	p.S178C(1)		breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCGGATTTCTACCCTTACC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											136	128	131					1																	28169737		2203	4300	6503	SO:0001583	missense	5511			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9296	protein-coding gene	gene with protein product	"RNase E", "nuclear subunit of PP-1", "nuclear inhibitor of protein phosphatase-1", "activator of RNA decay", "protein phosphatase 1 regulatory subunit 8"	602636	"protein phosphatase 1, regulatory (inhibitor) subunit 8"			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.533C>G	1.37:g.28169737C>G	ENSP00000311677:p.Ser178Cys		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S178C	ENST00000311772.5	37	c.533	CCDS311.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.105712	0.94292	.	.	ENSG00000117751	ENST00000311772;ENST00000373931;ENST00000399118;ENST00000431586	T	0.56103	0.48	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.74647	2.275	0.40106	D	0.976423	D	0.89917	1.0	D	0.69142	0.962	T	0.75775	-0.3199	10	0.87932	D	0	-13.9564	20.4192	0.99033	0.0:1.0:0.0:0.0	.	178	Q12972	PP1R8_HUMAN	C	178;36;36;36	ENSP00000311677:S178C	ENSP00000311677:S178C	S	+	2	0	PPP1R8	28042324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.831000	0.97527	0.650000	0.86243	TCT	PPP1R8	-	NULL		0.458	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	C	NM_014110		28169737	1	no_errors	ENST00000311772	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28169737	C	G	28169737	3	3	58	1	0	0	0	0	1	0	0	0	12404	913	32	1	551	1	PPP1R8	1	28169737	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	728984	28169737	221080884	30	7780										
EPB41	2035	genome.wustl.edu	37	chr1	29342242	29342242	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catttaatgtaaagttttatCcacctgacccagcacagtta	5	10	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:29342242C>G	ENST00000343067.4	+	6	995	c.868C>G	c.(868-870)Cca>Gca	p.P290A	EPB41_ENST00000373798.1_Missense_Mutation_p.P290A|EPB41_ENST00000398863.2_Missense_Mutation_p.P290A|EPB41_ENST00000347529.3_Missense_Mutation_p.P255A|EPB41_ENST00000373800.3_Missense_Mutation_p.P81A|EPB41_ENST00000373797.1_Missense_Mutation_p.P290A|EPB41_ENST00000356093.2_Missense_Mutation_p.P290A|EPB41_ENST00000349460.4_Missense_Mutation_p.P81A	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P290A(1)|p.P81A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAAGTTTTATCCACCTGACCC	0.274																																																	2	Substitution - Missense(2)	cervix(2)											50	54	53					1																	29342242		2199	4293	6492	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.868C>G	1.37:g.29342242C>G	ENSP00000345259:p.Pro290Ala		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.P290A	ENST00000343067.4	37	c.868	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701282	0.88924	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.23	5.23	0.72850	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88429	0.6434	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.963;1.0;0.997;1.0;1.0;1.0;0.999;0.992;1.0	D	0.89788	0.3966	10	0.87932	D	0	.	17.8013	0.88587	0.0:1.0:0.0:0.0	.	290;290;290;290;290;307;255;81;81	E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	A	307;290;290;290;184;290;81;81;255;290;290	ENSP00000345259:P290A;ENSP00000348397:P290A;ENSP00000381839:P290A;ENSP00000317597:P81A;ENSP00000362906:P81A;ENSP00000290100:P255A;ENSP00000362904:P290A;ENSP00000362903:P290A	ENSP00000345259:P290A	P	+	1	0	EPB41	29214829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.559000	0.82265	2.456000	0.83038	0.555000	0.69702	CCA	EPB41	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain		0.274	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	C	NM_203342		29342242	1	no_errors	ENST00000343067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29342242	C	G	29342242	3	3	58	1	0	0	0	0	1	0	0	0	5163	855	30	1	886	1	EPB41	1	29342242	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1172505	29342242	219908379	31	7781										
EIF3I	8668	genome.wustl.edu	37	chr1	32696563	32696563	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttgaagaagagtttggaaGagtcaagggtcactttggac	13	5	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:32696563G>C	ENST00000373586.1	+	10	911	c.839G>C	c.(838-840)aGa>aCa	p.R280T	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I									p.R280T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GAGTTTGGAAGAGTCAAGGGT	0.473																																					Colon(102;1138 2140 2180 17876)												1	Substitution - Missense(1)	cervix(1)											109	105	107					1																	32696563		2203	4300	6503	SO:0001583	missense	8668			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"WD repeat domain containing"	3272	protein-coding gene	gene with protein product		603911	"eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.839G>C	1.37:g.32696563G>C	ENSP00000362688:p.Arg280Thr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R280T	ENST00000373586.1	37	c.839	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809072	0.90707	.	.	ENSG00000084623	ENST00000373586	T	0.79554	-1.28	4.44	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	N	0.02011	-0.69	0.80722	D	1	P	0.46859	0.885	P	0.53760	0.734	T	0.77905	-0.2413	10	0.37606	T	0.19	-19.8081	17.4174	0.87504	0.0:0.0:1.0:0.0	.	280	Q13347	EIF3I_HUMAN	T	280	ENSP00000362688:R280T	ENSP00000362688:R280T	R	+	2	0	EIF3I	32469150	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.689000	0.98673	2.194000	0.70268	0.491000	0.48974	AGA	EIF3I	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.473	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	G	NM_003757		32696563	1	no_errors	ENST00000373586	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32696563	G	C	32696563	3	2	58	1	0	0	0	0	1	0	0	0	5031	942	33	1	877	1	EIF3I	1	32696563	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3354321	32696563	216554058	32	7782										
SYNC	81493	genome.wustl.edu	37	chr1	33147407	33147407	+	3'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttagtgatcctttgctaaGaagttttttgctgtttccgg	9	7	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:33147407G>A	ENST00000409190.3	-	0	1951				SYNC_ENST00000373484.3_Silent_p.F471F|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein						intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTTGCTAAGAAGTTTTTTG	0.393																																																	0													125	111	116					1																	33147407		2203	4298	6501	SO:0001624	3_prime_UTR_variant	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.*44C>T	1.37:g.33147407G>A			B4DNK8|B4DY58|C9IY41	Silent	SNP	pfam_F	p.F471	ENST00000409190.3	37	c.1413	CCDS367.2	1																																																																																			SYNC	-	NULL		0.393	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNC	HGNC	protein_coding	OTTHUMT00000022129.3	G	NM_030786		33147407	-1	no_errors	ENST00000373484	ensembl	human	known	70_37	silent	SNP	0.080	A	A	33147407	G	A	33147407	1	1	58	0	1	0	0	0	0	0	0	0	15473	933	33	1		1	SYNC	1	33147407	3'UTR	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	450844	33147407	216103214	33	7783										
EIF2C4	192670	genome.wustl.edu	37	chr1	36297506	36297506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctacagcaagatctgctcctGacagacaggaagagatcagt	10	10	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:36297506G>A	ENST00000373210.3	+	9	1335	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	364					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.D364N(1)									ATCTGCTCCTGACAGACAGGA	0.433																																																	1	Substitution - Missense(1)	cervix(1)											80	80	80					1																	36297506		2203	4300	6503	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1090G>A	1.37:g.36297506G>A	ENSP00000362306:p.Asp364Asn		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.D364N	ENST00000373210.3	37	c.1090	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454033	0.84209	.	.	ENSG00000134698	ENST00000373210	T	0.10099	2.91	5.1	5.1	0.69264	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.92026	3.265	0.80722	D	1	B	0.19935	0.04	B	0.24006	0.05	T	0.06144	-1.0843	10	0.54805	T	0.06	-15.7851	14.2166	0.65797	0.0744:0.0:0.9256:0.0	.	364	Q9HCK5	AGO4_HUMAN	N	364	ENSP00000362306:D364N	ENSP00000362306:D364N	D	+	1	0	EIF2C4	36070093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.526000	0.85167	0.655000	0.94253	GAC	EIF2C4	-	superfamily_PAZ		0.433	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	G	NM_017629		36297506	1	no_errors	ENST00000373210	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36297506	G	A	36297506	3	1	58	1	0	0	0	0	1	0	0	0	5018	1290	45	1	1124	1	EIF2C4	1	36297506	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3150099	36297506	212953115	34	7784										
TEKT2	27285	genome.wustl.edu	37	chr1	36550776	36550776	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctctcagaccatttgggatGaacatgacaacaggactcga	9	10	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:36550776G>A	ENST00000207457.3	+	3	296	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RP4-665N4.4_ENST00000446354.1_RNA	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	57					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E57K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATTTGGGATGAACATGACAA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											123	114	117					1																	36550776		2203	4300	6503	SO:0001583	missense	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.169G>A	1.37:g.36550776G>A	ENSP00000207457:p.Glu57Lys		A6NIS6|O60638	Missense_Mutation	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.E57K	ENST00000207457.3	37	c.169	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126589	0.77549	.	.	ENSG00000092850	ENST00000207457	T	0.02395	4.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	M	0.63843	1.955	0.80722	D	1	P	0.41102	0.738	B	0.40329	0.326	T	0.28586	-1.0039	10	0.38643	T	0.18	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	57	Q9UIF3	TEKT2_HUMAN	K	57	ENSP00000207457:E57K	ENSP00000207457:E57K	E	+	1	0	TEKT2	36323363	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.676000	0.84012	2.716000	0.92895	0.655000	0.94253	GAA	TEKT2	-	pfam_Tektin		0.532	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	G	NM_014466		36550776	1	no_errors	ENST00000207457	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36550776	G	A	36550776	3	1	58	1	0	0	0	0	1	0	0	0	15783	1291	45	1	175	1	TEKT2	1	36550776	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	253270	36550776	212699845	35	7785										
SNIP1	79753	genome.wustl.edu	37	chr1	38005984	38005984	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccggaaagtgttggtgtcctCaagaagtgccccagaaagtt	12	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:38005984C>G	ENST00000296215.6	-	3	772	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	234					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E234Q(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TTGGTGTCCTCAAGAAGTGCC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											67	70	69					1																	38005984		2203	4300	6503	SO:0001583	missense	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.700G>C	1.37:g.38005984C>G	ENSP00000296215:p.Glu234Gln		Q96SP9|Q9H9T7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E234Q	ENST00000296215.6	37	c.700	CCDS419.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207466	0.79240	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.48836	0.8	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.76938	2.355	0.80722	D	1	B	0.28998	0.23	B	0.34452	0.183	T	0.53265	-0.8463	10	0.33141	T	0.24	-13.5548	20.1865	0.98220	0.0:1.0:0.0:0.0	.	234	Q8TAD8	SNIP1_HUMAN	Q	234;218	ENSP00000296215:E234Q	ENSP00000296215:E234Q	E	-	1	0	SNIP1	37778571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.775000	0.95449	0.655000	0.94253	GAG	SNIP1	-	NULL		0.473	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	C	NM_024700		38005984	-1	no_errors	ENST00000296215	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38005984	C	G	38005984	3	3	58	1	0	0	0	0	1	0	0	0	14878	835	29	1	498	1	SNIP1	1	38005984	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1455208	38005984	211244637	36	7786										
SNIP1	79753	genome.wustl.edu	37	chr1	38019729	38019729	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaggtgcgacttctgggctGagacgctcctgcttcaccac	13	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:38019729G>C	ENST00000296215.6	-	1	174	c.102C>G	c.(100-102)ctC>ctG	p.L34L	DNALI1_ENST00000296218.7_5'Flank|DNALI1_ENST00000541606.1_5'Flank|SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	34					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L34L(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CTTCTGGGCTGAGACGCTCCT	0.736																																																	1	Substitution - coding silent(1)	cervix(1)											31	30	31					1																	38019729		2196	4298	6494	SO:0001819	synonymous_variant	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.102C>G	1.37:g.38019729G>C			Q96SP9|Q9H9T7	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L34	ENST00000296215.6	37	c.102	CCDS419.1	1																																																																																			SNIP1	-	NULL		0.736	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	G	NM_024700		38019729	-1	no_errors	ENST00000296215	ensembl	human	known	70_37	silent	SNP	0.725	C	C	38019729	G	C	38019729	2	2	58	1	0	0	0	0	0	0	0	1	14878	1277	45	1		1	SNIP1	1	38019729	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	13745	38019729	211230892	37	7787										
IPO13	9670	genome.wustl.edu	37	chr1	44424532	44424532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgaaggccctgagcttcggAagctgccagtgccacaggga	14	11	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:44424532A>C	ENST00000372343.3	+	11	2661	c.1999A>C	c.(1999-2001)Aag>Cag	p.K667Q		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	667					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K667Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGCTTCGGAAGCTGCCAGT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											77	72	74					1																	44424532		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1999A>C	1.37:g.44424532A>C	ENSP00000361418:p.Lys667Gln		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K667Q	ENST00000372343.3	37	c.1999	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693640	0.48202	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.66	5.66	0.87406	Armadillo-type fold (1);	0.272907	0.40728	N	0.001032	T	0.36744	0.0978	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.09377	0.004	T	0.25950	-1.0117	9	0.13108	T	0.6	-20.3056	15.8894	0.79279	1.0:0.0:0.0:0.0	.	667	O94829	IPO13_HUMAN	Q	667	.	ENSP00000361418:K667Q	K	+	1	0	IPO13	44197119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.826000	0.55738	2.154000	0.67381	0.528000	0.53228	AAG	IPO13	-	superfamily_ARM-type_fold		0.557	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	A	NM_014652		44424532	1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44424532	A	C	44424532	3	2	58	1	0	0	0	0	1	0	0	0	7814	247	9	5	2041	5	IPO13	1	44424532	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	6404803	44424532	204826089	38	7788										
NASP	4678	genome.wustl.edu	37	chr1	46073526	46073526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgtgggtggggacgagccaGaggagaaggtagttacctct	17	6	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:46073526G>C	ENST00000350030.3	+	6	1030	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E251Q|NASP_ENST00000402363.3_Missense_Mutation_p.E317Q	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	315	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.E317Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGACGAGCCAGAGGAGAAGGT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											57	57	57					1																	46073526		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.943G>C	1.37:g.46073526G>C	ENSP00000255120:p.Glu315Gln		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E317Q	ENST00000350030.3	37	c.949	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	6.502	0.460851	0.12342	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D	0.94723	-3.5;-3.5;-3.5	5.11	0.405	0.16361	.	0.619397	0.16186	N	0.225630	D	0.87038	0.6078	N	0.19112	0.55	0.20489	N	0.999892	B;B;B;B;B	0.28128	0.178;0.201;0.201;0.047;0.178	B;B;B;B;B	0.28139	0.054;0.039;0.039;0.024;0.086	T	0.75158	-0.3416	9	.	.	.	-1.5212	9.7861	0.40677	0.4697:0.0:0.5303:0.0	.	251;315;215;315;317	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	Q	251;317;215;315;278	ENSP00000438871:E251Q;ENSP00000384529:E317Q;ENSP00000255120:E315Q	.	E	+	1	0	NASP	45846113	0.019000	0.18553	0.921000	0.36526	0.497000	0.33675	0.993000	0.29680	0.152000	0.19188	-0.391000	0.06502	GAG	NASP	-	NULL		0.537	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	G	NM_002482		46073526	1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	0.662	C	C	46073526	G	C	46073526	3	2	58	1	0	0	0	0	1	0	0	0	10195	943	33	1	1042	1	NASP	1	46073526	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1648994	46073526	203177095	39	7789										
MKNK1	8569	genome.wustl.edu	37	chr1	47059806	47059806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tataggtttttccaacttttGagaagataccatctgtaaac	6	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:47059806G>C	ENST00000371946.4	-	2	176	c.13C>G	c.(13-15)Caa>Gaa	p.Q5E	MKNK1_ENST00000465783.1_Missense_Mutation_p.Q5E|MKNK1_ENST00000428112.2_Missense_Mutation_p.Q5E|MKNK1_ENST00000371945.4_Missense_Mutation_p.Q5E|MKNK1_ENST00000341183.5_Missense_Mutation_p.Q5E|MKNK1_ENST00000525888.1_5'UTR|MKNK1_ENST00000545730.1_Missense_Mutation_p.Q5E	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	5					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q5E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCAACTTTTGAGAAGATACC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											98	102	101					1																	47059806		2203	4300	6503	SO:0001583	missense	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.13C>G	1.37:g.47059806G>C	ENSP00000361014:p.Gln5Glu		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	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.Q5E	ENST00000371946.4	37	c.13	CCDS538.1	1	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091268	0.07053	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000496619;ENST00000545730;ENST00000529170;ENST00000531769;ENST00000465783;ENST00000532110	T;T;T;T;T;T;T;T;T;T	0.70399	-0.02;-0.42;-0.48;-0.48;-0.14;0.0;1.59;1.59;1.53;1.53	3.79	-0.202	0.13208	.	3.563040	0.00508	N	0.000163	T	0.44371	0.1290	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18461	0.028;0.006;0.006;0.015	B;B;B;B	0.16722	0.016;0.015;0.015;0.011	T	0.45877	-0.9231	10	0.02654	T	1	.	3.0008	0.06012	0.3251:0.0:0.4812:0.1937	.	5;5;5;5	B4E1V9;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;MKNK1_HUMAN	E	5;5;5;5;5;5;5;5;5;75	ENSP00000361014:Q5E;ENSP00000361013:Q5E;ENSP00000339573:Q5E;ENSP00000411135:Q5E;ENSP00000436709:Q5E;ENSP00000440974:Q5E;ENSP00000435163:Q5E;ENSP00000434021:Q5E;ENSP00000434834:Q5E;ENSP00000431985:Q75E	ENSP00000339573:Q5E	Q	-	1	0	MKNK1	46832393	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	0.062000	0.14389	-0.023000	0.13963	-1.164000	0.01763	CAA	MKNK1	-	NULL		0.378	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	G	NM_003684		47059806	-1	no_errors	ENST00000371946	ensembl	human	known	70_37	missense	SNP	0.000	C	C	47059806	G	C	47059806	3	2	58	1	0	0	0	0	1	0	0	0	9627	1299	45	1	1436	1	MKNK1	1	47059806	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	986280	47059806	202190815	40	7790										
CYP4Z1	199974	genome.wustl.edu	37	chr1	47571830	47571830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agccagatgccttacaccacGatgtgcatcaaggaatgcct	9	12	1	1	rs151236717	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:47571830G>A	ENST00000334194.3	+	9	1101	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	366						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T366T(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTTACACCACGATGTGCATCA	0.522													G|||	12	0.00239617	0.0083	0	5008	,	,		18430	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)						G		22,4384	28.1+/-56.4	0,22,2181	140	119	126		1098	-6.5	0.9	1	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	CYP4Z1	NM_178134.2		0,22,6481	AA,AG,GG		0.0,0.4993,0.1692		366/506	47571830	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	199974			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1098G>A	1.37:g.47571830G>A			Q5VVE4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.T366	ENST00000334194.3	37	c.1098	CCDS545.1	1																																																																																			CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.522	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	G	NM_178134		47571830	1	no_errors	ENST00000334194	ensembl	human	known	70_37	silent	SNP	0.964	A	A	47571830	G	A	47571830	2	1	58	1	0	0	0	0	0	0	0	1	4199	1045	37	1		1	CYP4Z1	1	47571830	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	512024	47571830	201678791	41	7791										
C1orf177	163747	genome.wustl.edu	37	chr1	55277499	55277499	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggccctggaaattatggggaGaagggtaacccatacaccaa	12	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:55277499G>A	ENST00000371273.3	+	5	528	c.513G>A	c.(511-513)gaG>gaA	p.E171E	C1orf177_ENST00000358193.3_Silent_p.E171E	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	171								p.E171E(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATTATGGGGAGAAGGGTAACC	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											63	59	60					1																	55277499		2203	4300	6503	SO:0001819	synonymous_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.513G>A	1.37:g.55277499G>A			B7WPL2|Q8N7Y9	Silent	SNP	NULL	p.E171	ENST00000371273.3	37	c.513	CCDS44153.1	1																																																																																			C1orf177	-	NULL		0.587	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	G	NM_152607		55277499	1	no_errors	ENST00000371273	ensembl	human	known	70_37	silent	SNP	0.951	A	A	55277499	G	A	55277499	2	1	58	1	0	0	0	0	0	0	0	1	2022	933	33	1		1	C1orf177	1	55277499	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7705669	55277499	193973122	42	7792										
DAB1	1600	genome.wustl.edu	37	chr1	57480998	57480998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catgcgatgggctgagccccCggcatcacctgagcgactgg	14	14	1	2	rs201974535		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:57480998C>T	ENST00000371231.1	-	13	1135	c.1101G>A	c.(1099-1101)ccG>ccA	p.P367P	DAB1_ENST00000414851.2_Silent_p.P316P|DAB1_ENST00000371236.2_Silent_p.P334P|DAB1_ENST00000439789.2_Silent_p.P248P|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.P334P|DAB1_ENST00000420954.2_Silent_p.P332P			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	367					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.P334P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTGAGCCCCCGGCATCACCT	0.667													C|||	1	0.000199681	0	0	5008	,	,		14985	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											37	40	39					1																	57480998		2203	4300	6503	SO:0001819	synonymous_variant	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1101G>A	1.37:g.57480998C>T			A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.P367	ENST00000371231.1	37	c.1101		1																																																																																			DAB1	-	NULL		0.667	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	C	NM_021080		57480998	-1	no_errors	ENST00000371231	ensembl	human	known	70_37	silent	SNP	0.243	T	T	57480998	C	T	57480998	2	4	58	1	0	0	0	0	0	0	0	1	4222	639	23	2		2	DAB1	1	57480998	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2203499	57480998	191769623	43	7793										
FOXD3	27022	genome.wustl.edu	37	chr1	63789491	63789491	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagacggcgctcatgatgcaGagcttcggcgcttacagcct	12	13	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:63789491G>C	ENST00000371116.2	+	1	762	c.762G>C	c.(760-762)caG>caC	p.Q254H	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	254					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q254H(1)		breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						TCATGATGCAGAGCTTCGGCG	0.721																																					Pancreas(68;276 1750 11966 31252)												1	Substitution - Missense(1)	cervix(1)											13	16	15					1																	63789491		2169	4255	6424	SO:0001583	missense	27022			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.762G>C	1.37:g.63789491G>C	ENSP00000360157:p.Gln254His		Q9BYM2|Q9UDD1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q254H	ENST00000371116.2	37	c.762	CCDS624.1	1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655267	0.29425	.	.	ENSG00000187140	ENST00000371116	D	0.94280	-3.39	2.51	1.51	0.23008	.	0.765687	0.10030	U	0.724844	T	0.78188	0.4244	L	0.27053	0.805	0.41450	D	0.98797	B	0.02656	0.0	B	0.04013	0.001	T	0.69363	-0.5165	10	0.33141	T	0.24	.	5.808	0.18450	0.1188:0.3843:0.4969:0.0	.	254	Q9UJU5	FOXD3_HUMAN	H	254	ENSP00000360157:Q254H	ENSP00000360157:Q254H	Q	+	3	2	FOXD3	63562079	0.163000	0.22920	1.000000	0.80357	0.995000	0.86356	0.330000	0.19715	0.533000	0.28675	0.460000	0.39030	CAG	FOXD3	-	NULL		0.721	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	HGNC	protein_coding	OTTHUMT00000025331.1	G			63789491	1	no_errors	ENST00000371116	ensembl	human	known	70_37	missense	SNP	0.997	C	C	63789491	G	C	63789491	3	2	58	1	0	0	0	0	1	0	0	0	6016	933	33	1	764	1	FOXD3	1	63789491	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6308493	63789491	185461130	44	7794										
JAK1	3716	genome.wustl.edu	37	chr1	65332606	65332606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcaccatcacttcgtagtaGagaacgtttccaccgtcatt	7	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:65332606G>A	ENST00000342505.4	-	7	1181	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	311	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.L311L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTTCGTAGTAGAGAACGTTTC	0.413			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - coding silent(1)	cervix(1)											165	148	153					1																	65332606		1966	4156	6122	SO:0001819	synonymous_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.933C>T	1.37:g.65332606G>A			Q59GQ2|Q9UD26	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.L311	ENST00000342505.4	37	c.933	CCDS41346.1	1																																																																																			JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.413	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	G	NM_002227		65332606	-1	no_errors	ENST00000342505	ensembl	human	known	70_37	silent	SNP	0.000	A	A	65332606	G	A	65332606	2	1	58	1	0	0	0	0	0	0	0	1	7957	929	33	1		1	JAK1	1	65332606	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1543115	65332606	183918015	45	7795										
MIER1	57708	genome.wustl.edu	37	chr1	67423853	67423853	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggaagaagaaggtgaagatGatgaagatgctgataatgat	14	1	0	9			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:67423853G>A	ENST00000355356.3	+	4	441	c.292G>A	c.(292-294)Gat>Aat	p.D98N	MIER1_ENST00000371016.1_Missense_Mutation_p.D115N|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401041.1_Missense_Mutation_p.D151N|MIER1_ENST00000401042.3_Missense_Mutation_p.D98N|MIER1_ENST00000371018.3_Missense_Mutation_p.D115N|MIER1_ENST00000355977.6_Missense_Mutation_p.D35N|MIER1_ENST00000371014.1_Missense_Mutation_p.D151N|MIER1_ENST00000357692.2_Missense_Mutation_p.D115N	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	98	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D98N(1)|p.D151N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						aggtgaagatgatgaagaTGC	0.368																																																	2	Substitution - Missense(2)	cervix(2)											110	113	112					1																	67423853		2034	4197	6231	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.292G>A	1.37:g.67423853G>A	ENSP00000347514:p.Asp98Asn		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.D151N	ENST00000355356.3	37	c.451	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976824	0.53720	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.41758	2.01;0.99;2.01;2.01;2.01;2.01;2.01;2.01	5.42	5.42	0.78866	.	0.629307	0.16724	N	0.202146	T	0.25901	0.0631	L	0.29908	0.895	0.58432	D	0.999999	P;P;B;B;B;P;P;P;P	0.49358	0.923;0.454;0.358;0.001;0.001;0.651;0.557;0.57;0.773	B;B;B;B;B;B;B;B;P	0.48982	0.423;0.053;0.08;0.004;0.001;0.165;0.12;0.25;0.597	T	0.01287	-1.1395	10	0.18276	T	0.48	-23.5459	13.5375	0.61653	0.076:0.0:0.9239:0.0	.	115;115;98;98;35;122;115;151;151	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	N	119;115;35;115;151;115;151;98;98	ENSP00000360057:D115N;ENSP00000348253:D35N;ENSP00000350321:D115N;ENSP00000383820:D151N;ENSP00000360055:D115N;ENSP00000360053:D151N;ENSP00000383821:D98N;ENSP00000347514:D98N	ENSP00000347514:D98N	D	+	1	0	MIER1	67196441	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	8.923000	0.92808	2.702000	0.92279	0.591000	0.81541	GAT	MIER1	-	NULL		0.368	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	G	NM_020948		67423853	1	no_errors	ENST00000401041	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67423853	G	A	67423853	3	1	58	1	0	0	0	0	1	0	0	0	9603	1290	45	1	546	1	MIER1	1	67423853	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2091247	67423853	181826768	46	7796										
DIRAS3	9077	genome.wustl.edu	37	chr1	68512353	68512353	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggcatctgggatttcttctCgggctcctggaggccggtgg	17	10	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:68512353C>G	ENST00000370981.1	-	4	1264	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	DIRAS3_ENST00000395201.1_Missense_Mutation_p.E210Q|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	210					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E210K(1)|p.E210Q(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCTTCTCGGGCTCCTGG	0.517																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											118	120	119					1																	68512353		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.628G>C	1.37:g.68512353C>G	ENSP00000360020:p.Glu210Gln		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E210Q	ENST00000370981.1	37	c.628	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735280	0.15574	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.72942	-0.7;-0.7	4.66	-6.76	0.01732	.	.	.	.	.	T	0.14313	0.0346	N	0.01352	-0.895	0.09310	N	1	B	0.22146	0.065	B	0.19148	0.024	T	0.33111	-0.9881	9	0.12103	T	0.63	.	11.8348	0.52316	0.0:0.6059:0.141:0.2531	.	210	O95661	DIRA3_HUMAN	Q	210	ENSP00000360020:E210Q;ENSP00000378627:E210Q	ENSP00000360020:E210Q	E	-	1	0	DIRAS3	68284941	0.926000	0.31397	0.000000	0.03702	0.002000	0.02628	0.746000	0.26275	-0.807000	0.04393	-0.171000	0.13296	GAG	DIRAS3	-	NULL		0.517	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	C	NM_004675		68512353	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.000	G	G	68512353	C	G	68512353	3	3	58	1	0	0	0	0	1	0	0	0	4542	893	31	1	65	1	DIRAS3	1	68512353	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1088500	68512353	180738268	47	7797										
IFI44	10561	genome.wustl.edu	37	chr1	79120726	79120726	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagagcttactgtctgccttGagaacttatgaaccatatgg	9	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:79120726G>C	ENST00000370747.4	+	4	607	c.522G>C	c.(520-522)ttG>ttC	p.L174F	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	174					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.L174F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGTCTGCCTTGAGAACTTATG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											90	86	87					1																	79120726		2203	4300	6503	SO:0001583	missense	10561			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.522G>C	1.37:g.79120726G>C	ENSP00000359783:p.Leu174Phe		B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc	p.L174F	ENST00000370747.4	37	c.522	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551608	0.27739	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.41065	1.01;1.01	3.85	-3.61	0.04556	.	0.899723	0.09439	N	0.801966	T	0.17066	0.0410	L	0.49350	1.555	0.25501	N	0.987558	P;P	0.50943	0.879;0.94	B;B	0.42959	0.403;0.403	T	0.14587	-1.0467	10	0.66056	D	0.02	.	6.8181	0.23843	0.3054:0.1253:0.5692:0.0	.	174;174	B7ZB11;Q8TCB0	.;IFI44_HUMAN	F	174;50	ENSP00000359783:L174F;ENSP00000399477:L50F	ENSP00000359783:L174F	L	+	3	2	IFI44	78893314	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.184000	0.03076	-0.799000	0.04439	0.563000	0.77884	TTG	IFI44	-	NULL		0.418	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	G	NM_006417		79120726	1	no_errors	ENST00000370747	ensembl	human	known	70_37	missense	SNP	0.005	C	C	79120726	G	C	79120726	3	2	58	1	0	0	0	0	1	0	0	0	7537	1281	45	1	532	1	IFI44	1	79120726	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	10608373	79120726	170129895	48	7798										
CLCA4	22802	genome.wustl.edu	37	chr1	87043590	87043590	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catttctataacaaggcgctGattctttcaagaatgatgga	8	7	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:87043590G>C	ENST00000370563.3	+	12	1999	c.1957G>C	c.(1957-1959)Gat>Cat	p.D653H	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	653					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.D653H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAAGGCGCTGATTCTTTCAA	0.368																																																	1	Substitution - Missense(1)	cervix(1)											48	44	45					1																	87043590		1808	4070	5878	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1957G>C	1.37:g.87043590G>C	ENSP00000359594:p.Asp653His		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.D653H	ENST00000370563.3	37	c.1957	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145417	0.77888	.	.	ENSG00000016602	ENST00000370563	T	0.57107	0.42	5.12	5.12	0.69794	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80137	-0.1508	10	0.87932	D	0	-37.3958	18.7018	0.91623	0.0:0.0:1.0:0.0	.	205;653	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	H	653	ENSP00000359594:D653H	ENSP00000359594:D653H	D	+	1	0	CLCA4	86816178	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.245000	0.65405	2.817000	0.96982	0.563000	0.77884	GAT	CLCA4	-	pfam_DUF1973,tigrfam_CaCC_prot		0.368	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	G	NM_012128		87043590	1	no_errors	ENST00000370563	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87043590	G	C	87043590	3	2	58	1	0	0	0	0	1	0	0	0	3464	1290	45	1	2003	1	CLCA4	1	87043590	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7922864	87043590	162207031	49	7799										
CCBL2	56267	genome.wustl.edu	37	chr1	89408752	89408752	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctctgagttacagaatgctGaaacggggatggctgatagt	13	6	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:89408752G>A	ENST00000260508.4	-	13	1575	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	CCBL2_ENST00000370491.3_Missense_Mutation_p.S379L|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	413					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.S413L(1)|p.S379L(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		ACAGAATGCTGAAACGGGGAT	0.313																																																	2	Substitution - Missense(2)	cervix(2)											120	131	127					1																	89408752		2203	4300	6503	SO:0001583	missense	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1238C>T	1.37:g.89408752G>A	ENSP00000260508:p.Ser413Leu		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S413L	ENST00000260508.4	37	c.1238	CCDS30766.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.116171	0.94339	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	D;D	0.91464	-2.85;-2.85	5.06	5.06	0.68205	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.120911	0.53938	N	0.000048	D	0.96005	0.8699	M	0.93978	3.48	0.80722	D	1	D	0.59767	0.986	P	0.61533	0.89	D	0.96831	0.9611	10	0.87932	D	0	-27.1128	18.7894	0.91968	0.0:0.0:1.0:0.0	.	413	Q6YP21	KAT3_HUMAN	L	379;413	ENSP00000359522:S379L;ENSP00000260508:S413L	ENSP00000260508:S413L	S	-	2	0	CCBL2	89181340	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.423000	0.90264	2.515000	0.84797	0.563000	0.77884	TCA	CCBL2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.313	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	HGNC	protein_coding	OTTHUMT00000029300.3	G	NM_001008661		89408752	-1	no_errors	ENST00000260508	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89408752	G	A	89408752	3	1	58	1	0	0	0	0	1	0	0	0	2738	1294	45	1	134	1	CCBL2	1	89408752	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2365162	89408752	159841869	50	7800										
AMY2B	280	genome.wustl.edu	37	chr1	104114233	104114233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttcaaagcaaaatgaagttCtttctgttgcttttcaccat	5	9	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:104114233C>G	ENST00000361355.4	+	3	625	c.9C>G	c.(7-9)ttC>ttG	p.F3L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	3					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAATGAAGTTCTTTCTGTTGC	0.368																																																	0													35	34	34					1																	104114233		2179	4270	6449	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.9C>G	1.37:g.104114233C>G	ENSP00000354610:p.Phe3Leu		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.F3L	ENST00000361355.4	37	c.9	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	0.555	-0.847588	0.02651	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	.	.	.	4.45	3.46	0.39613	.	0.497156	0.22929	N	0.053928	T	0.06234	0.0161	N	0.04297	-0.235	0.27243	N	0.959084	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	9	0.02654	T	1	.	12.623	0.56614	0.0:0.6902:0.3098:0.0	.	3	P19961	AMY2B_HUMAN	L	3	.	ENSP00000354610:F3L	F	+	3	2	AMY2B	103915756	0.007000	0.16637	0.969000	0.41365	0.564000	0.35744	0.180000	0.16860	2.024000	0.59613	0.585000	0.79938	TTC	AMY2B	-	NULL		0.368	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	C	NM_020978		104114233	1	no_errors	ENST00000361355	ensembl	human	known	70_37	missense	SNP	0.918	G	G	104114233	C	G	104114233	3	3	58	1	0	0	0	0	1	0	0	0	595	912	32	1	11	1	AMY2B	1	104114233	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	14705481	104114233	145136388	51	7801										
CELSR2	1952	genome.wustl.edu	37	chr1	109814995	109814995	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaccagtcgctcgggcaaGagtcagcccagctacatccc	10	16	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:109814995G>C	ENST00000271332.3	+	29	8083	c.8022G>C	c.(8020-8022)aaG>aaC	p.K2674N	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2674					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K2674N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTCGGGCAAGAGTCAGCCCA	0.662																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - Missense(1)	cervix(1)											73	79	77					1																	109814995		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8022G>C	1.37:g.109814995G>C	ENSP00000271332:p.Lys2674Asn		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.K2674N	ENST00000271332.3	37	c.8022	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289836	0.59976	.	.	ENSG00000143126	ENST00000271332	T	0.69040	-0.37	4.9	4.9	0.64082	.	.	.	.	.	T	0.50514	0.1620	L	0.54323	1.7	0.53005	D	0.999969	P	0.40000	0.698	B	0.38562	0.276	T	0.51795	-0.8660	9	0.25106	T	0.35	.	16.041	0.80683	0.0:0.0:1.0:0.0	.	2674	Q9HCU4	CELR2_HUMAN	N	2674	ENSP00000271332:K2674N	ENSP00000271332:K2674N	K	+	3	2	CELSR2	109616518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.366000	0.59492	2.571000	0.86741	0.561000	0.74099	AAG	CELSR2	-	NULL		0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109814995	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109814995	G	C	109814995	3	2	58	1	0	0	0	0	1	0	0	0	3227	933	33	1	8136	1	CELSR2	1	109814995	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5700762	109814995	139435626	52	7802										
FAM40A	85369	genome.wustl.edu	37	chr1	110585728	110585728	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgcacgctaggcggctttGaggagctgcagagcatgaag	16	8	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:110585728G>C	ENST00000369795.3	+	9	926	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.E207Q	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	302					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E302Q(1)									AGGCGGCTTTGAGGAGCTGCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)											41	40	40					1																	110585728		2203	4299	6502	SO:0001583	missense	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.904G>C	1.37:g.110585728G>C	ENSP00000358810:p.Glu302Gln		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.E302Q	ENST00000369795.3	37	c.904	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.089488	0.94149	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.48201	0.83;0.82	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.52364	1.645	0.80722	D	1	D;B	0.55800	0.973;0.359	P;B	0.56916	0.809;0.425	T	0.47381	-0.9122	10	0.48119	T	0.1	-31.7867	20.3409	0.98764	0.0:0.0:1.0:0.0	.	207;302	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	Q	207;302	ENSP00000358811:E207Q;ENSP00000358810:E302Q	ENSP00000358810:E302Q	E	+	1	0	FAM40A	110387251	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.441000	0.97557	2.814000	0.96858	0.655000	0.94253	GAG	STRIP1	-	pfam_N1221		0.582	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	G	NM_033088		110585728	1	no_errors	ENST00000369795	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110585728	G	C	110585728	3	2	58	1	0	0	0	0	1	0	0	0	5578	1291	45	1	938	1	FAM40A	1	110585728	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	770733	110585728	138664893	53	7803										
RBM15	64783	genome.wustl.edu	37	chr1	110882622	110882622	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgagttcaaacgcttcggtGatgtaagtgtgaaaatcagt	11	5	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:110882622G>T	ENST00000369784.3	+	1	1495	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	RBM15_ENST00000487146.2_Missense_Mutation_p.D199Y|RBM15_ENST00000602849.1_Missense_Mutation_p.D199Y|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	199	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D199Y(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACGCTTCGGTGATGTAAGTGT	0.577			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - Missense(1)	cervix(1)											78	79	79					1																	110882622		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.595G>T	1.37:g.110882622G>T	ENSP00000358799:p.Asp199Tyr	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D199Y	ENST00000369784.3	37	c.595	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283729	0.80803	.	.	ENSG00000162775	ENST00000369784	T	0.45276	0.9	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.48286	D	0.000194	T	0.59959	0.2232	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62982	-0.6738	10	0.87932	D	0	-12.0455	18.5182	0.90942	0.0:0.0:1.0:0.0	.	199;199	Q96T37-3;Q96T37	.;RBM15_HUMAN	Y	199	ENSP00000358799:D199Y	ENSP00000358799:D199Y	D	+	1	0	RBM15	110684145	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.965000	0.93393	2.706000	0.92434	0.655000	0.94253	GAT	RBM15	-	smart_RRM_dom,pfscan_RRM_dom		0.577	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	G	NM_022768		110882622	1	no_errors	ENST00000369784	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110882622	G	T	110882622	3	4	58	1	0	0	0	0	1	0	0	0	13146	1290	45	3	597	3	RBM15	1	110882622	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	296894	110882622	138367999	54	7804										
RBM15	64783	genome.wustl.edu	37	chr1	110882687	110882687	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatgagcgggtagcctttgtGaacttccggcggccagagga	16	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:110882687G>A	ENST00000369784.3	+	1	1560	c.660G>A	c.(658-660)gtG>gtA	p.V220V	RBM15_ENST00000487146.2_Silent_p.V220V|RBM15_ENST00000602849.1_Silent_p.V220V|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	220	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V220V(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TAGCCTTTGTGAACTTCCGGC	0.582			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - coding silent(1)	cervix(1)											48	52	51					1																	110882687		2203	4300	6503	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.660G>A	1.37:g.110882687G>A		1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V220	ENST00000369784.3	37	c.660	CCDS822.1	1																																																																																			RBM15	-	smart_RRM_dom,pfscan_RRM_dom		0.582	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	G	NM_022768		110882687	1	no_errors	ENST00000369784	ensembl	human	known	70_37	silent	SNP	1.000	A	A	110882687	G	A	110882687	2	1	58	1	0	0	0	0	0	0	0	1	13146	1277	45	1		1	RBM15	1	110882687	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	65	110882687	138367934	55	7805										
MOV10	4343	genome.wustl.edu	37	chr1	113238053	113238053	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaggtggtgaagcacttgCccaaagcccacatcttggcc	10	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:113238053C>G	ENST00000413052.2	+	11	2026	c.1636C>G	c.(1636-1638)Ccc>Gcc	p.P546A	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.P546A|MOV10_ENST00000357443.2_Missense_Mutation_p.P546A|MOV10_ENST00000369644.1_Missense_Mutation_p.P490A|RP11-426L16.3_ENST00000421943.1_RNA	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	546					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.P546A(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAAGCACTTGCCCAAAGCCCA	0.592																																																	1	Substitution - Missense(1)	cervix(1)											108	91	97					1																	113238053		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1636C>G	1.37:g.113238053C>G	ENSP00000399797:p.Pro546Ala		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.P546A	ENST00000413052.2	37	c.1636	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459299	0.63401	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.35	5.35	0.76521	.	0.563621	0.19347	N	0.116520	D	0.82651	0.5083	L	0.47016	1.485	0.80722	D	1	P;P	0.38048	0.616;0.616	B;P	0.49953	0.444;0.627	D	0.83543	0.0097	10	0.52906	T	0.07	-17.7143	17.8634	0.88789	0.0:1.0:0.0:0.0	.	490;546	Q5JR04;Q9HCE1	.;MOV10_HUMAN	A	546;546;490;546;484	ENSP00000399797:P546A;ENSP00000358659:P546A;ENSP00000358658:P490A;ENSP00000350028:P546A	ENSP00000350028:P546A	P	+	1	0	MOV10	113039576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.945000	0.49043	2.503000	0.84419	0.655000	0.94253	CCC	MOV10	-	NULL		0.592	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	C	NM_020963		113238053	1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113238053	C	G	113238053	3	3	58	1	0	0	0	0	1	0	0	0	9741	739	26	4	1674	4	MOV10	1	113238053	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2355366	113238053	136012568	56	7806										
PPM1J	333926	genome.wustl.edu	37	chr1	113256227	113256227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgccgactcttgccagcattGatgaccctgccaggccagaa	10	14	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:113256227G>C	ENST00000309276.6	-	2	508	c.333C>G	c.(331-333)atC>atG	p.I111M	RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000464951.1_De_novo_Start_InFrame|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	111					protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)	p.I111M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCAGCATTGATGACCCTGC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											171	139	150					1																	113256227		2203	4300	6503	SO:0001583	missense	333926			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.333C>G	1.37:g.113256227G>C	ENSP00000308926:p.Ile111Met		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.I111M	ENST00000309276.6	37	c.333	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606059	0.66445	.	.	ENSG00000155367	ENST00000309276	T	0.57273	0.41	5.41	4.3	0.51218	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.51415	0.669	T	0.61608	-0.7028	10	0.87932	D	0	-12.6938	10.6791	0.45804	0.0828:0.0:0.7806:0.1366	.	111	Q5JR12	PPM1J_HUMAN	M	111	ENSP00000308926:I111M	ENSP00000308926:I111M	I	-	3	3	PPM1J	113057750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.649000	0.46656	2.529000	0.85273	0.561000	0.74099	ATC	PPM1J	-	superfamily_PP2C-like,smart_PP2C-like		0.577	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	G	NM_005167		113256227	-1	no_errors	ENST00000309276	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113256227	G	C	113256227	3	2	58	1	0	0	0	0	1	0	0	0	12369	1280	45	1	1220	1	PPM1J	1	113256227	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	18174	113256227	135994394	57	7807										
MAGI3	260425	genome.wustl.edu	37	chr1	114223935	114223935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcttcttcttttgaggccagGaactggcttgatacctgacc	9	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:114223935G>A	ENST00000307546.9	+	20	3380	c.3305G>A	c.(3304-3306)gGa>gAa	p.G1102E	MAGI3_ENST00000369611.4_Missense_Mutation_p.G1102E|MAGI3_ENST00000369617.4_Missense_Mutation_p.G1127E|MAGI3_ENST00000369615.1_Missense_Mutation_p.G1102E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1127	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.G1102E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGAGGCCAGGAACTGGCTTG	0.413																																																	2	Substitution - Missense(2)	cervix(2)											128	119	122					1																	114223935		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3305G>A	1.37:g.114223935G>A	ENSP00000304604:p.Gly1102Glu		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.G1102E	ENST00000307546.9	37	c.3305	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.239035	0.95240	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.53865	-0.8378	10	0.87932	D	0	2.0012	20.0966	0.97849	0.0:0.0:1.0:0.0	.	1102;1102;1127	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	E	1127;1102;1102;1102;142	ENSP00000358630:G1127E;ENSP00000304604:G1102E;ENSP00000358628:G1102E;ENSP00000358624:G1102E	ENSP00000304604:G1102E	G	+	2	0	MAGI3	114025458	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	9.593000	0.98250	2.751000	0.94390	0.650000	0.86243	GGA	MAGI3	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114223935	1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114223935	G	A	114223935	3	1	58	1	0	0	0	0	1	0	0	0	9215	1174	41	1	3383	1	MAGI3	1	114223935	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	967708	114223935	135026686	58	7808										
TTF2	8458	genome.wustl.edu	37	chr1	117626692	117626692	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcatctgtcctgcctccctGatccatcattggaaaaatga	6	12	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:117626692G>A	ENST00000369466.4	+	11	2000	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L652L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCCTCCCTGATCCATCATT	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											192	170	178					1																	117626692		2203	4300	6503	SO:0001819	synonymous_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1956G>A	1.37:g.117626692G>A			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L652	ENST00000369466.4	37	c.1956	CCDS892.1	1																																																																																			TTF2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.453	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G			117626692	1	no_errors	ENST00000369466	ensembl	human	known	70_37	silent	SNP	1.000	A	A	117626692	G	A	117626692	2	1	58	1	0	0	0	0	0	0	0	1	16750	1277	45	1		1	TTF2	1	117626692	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3402757	117626692	131623929	59	7809										
WDR3	10885	genome.wustl.edu	37	chr1	118482165	118482165	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggggcctcagacagtgaactGagggtatgggacatagctta	15	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:118482165G>A	ENST00000349139.5	+	6	692	c.645G>A	c.(643-645)ctG>ctA	p.L215L	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	215						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L215L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACAGTGAACTGAGGGTATGGG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											116	120	119					1																	118482165		2203	4300	6503	SO:0001819	synonymous_variant	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.645G>A	1.37:g.118482165G>A				Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L215	ENST00000349139.5	37	c.645	CCDS898.1	1																																																																																			WDR3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.378	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118482165	1	no_errors	ENST00000349139	ensembl	human	known	70_37	silent	SNP	1.000	A	A	118482165	G	A	118482165	2	1	58	1	0	0	0	0	0	0	0	1	17316	1277	45	1		1	WDR3	1	118482165	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	855473	118482165	130768456	60	7810										
WDR3	10885	genome.wustl.edu	37	chr1	118491033	118491033	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgtgtcttcccagacaggGaagctgcagctttatgactt	10	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:118491033G>A	ENST00000349139.5	+	13	1475	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	476						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G476G(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCCAGACAGGGAAGCTGCAGC	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											97	88	91					1																	118491033		2203	4300	6503	SO:0001819	synonymous_variant	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1428G>A	1.37:g.118491033G>A				Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G476	ENST00000349139.5	37	c.1428	CCDS898.1	1																																																																																			WDR3	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118491033	1	no_errors	ENST00000349139	ensembl	human	known	70_37	silent	SNP	1.000	A	A	118491033	G	A	118491033	2	1	58	1	0	0	0	0	0	0	0	1	17316	1161	41	1		1	WDR3	1	118491033	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8868	118491033	130759588	61	7811										
SPAG17	200162	genome.wustl.edu	37	chr1	118523950	118523950	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcagtgaaatccttcttatCtgcagaaatctctggttttg	8	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:118523950C>A	ENST00000336338.5	-	43	6012	c.5947G>T	c.(5947-5949)Gat>Tat	p.D1983Y	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1983						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1983Y(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTTCTTATCTGCAGAAATC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											121	120	120					1																	118523950		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5947G>T	1.37:g.118523950C>A	ENSP00000337804:p.Asp1983Tyr		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.D1983Y	ENST00000336338.5	37	c.5947	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608542	0.28623	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18810	2.19	4.68	1.79	0.24919	.	0.910463	0.09393	N	0.808222	T	0.09905	0.0243	L	0.51422	1.61	0.09310	N	1	B	0.28880	0.226	B	0.37304	0.246	T	0.44205	-0.9343	10	0.59425	D	0.04	.	6.3969	0.21616	0.0:0.6903:0.0:0.3097	.	1983	Q6Q759	SPG17_HUMAN	Y	1983;463	ENSP00000337804:D1983Y	ENSP00000337804:D1983Y	D	-	1	0	SPAG17	118325473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.601000	0.05687	0.212000	0.20703	0.650000	0.86243	GAT	SPAG17	-	NULL		0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118523950	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.000	A	A	118523950	C	A	118523950	3	1	58	1	0	0	0	0	1	0	0	0	15009	913	32	3	748	3	SPAG17	1	118523950	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	32917	118523950	130726671	62	7812										
NOTCH2	4853	genome.wustl.edu	37	chr1	120458064	120458064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagcagagtggggtgatgaActtgaccactggtcaggaga	16	6	1	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:120458064A>C	ENST00000256646.2	-	34	7500	c.7281T>G	c.(7279-7281)agT>agG	p.S2427R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2427	Poly-Ser.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S2427R(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTGATGAACTTGACCACT	0.597			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	cervix(1)											109	103	105					1																	120458064		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7281T>G	1.37:g.120458064A>C	ENSP00000256646:p.Ser2427Arg		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S2427R	ENST00000256646.2	37	c.7281	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429982	0.62844	.	.	ENSG00000134250	ENST00000256646	D	0.83163	-1.69	5.66	-3.16	0.05217	Domain of unknown function DUF3454, notch (1);	0.325968	0.21712	U	0.070253	D	0.87426	0.6174	M	0.80332	2.49	0.43444	D	0.995623	D	0.89917	1.0	D	0.77557	0.99	D	0.89673	0.3885	10	0.87932	D	0	.	16.2816	0.82692	0.2055:0.0:0.7945:0.0	.	2427	Q04721	NOTC2_HUMAN	R	2427	ENSP00000256646:S2427R	ENSP00000256646:S2427R	S	-	3	2	NOTCH2	120259587	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	0.984000	0.29565	-0.284000	0.09102	0.533000	0.62120	AGT	NOTCH2	-	pirsf_Notch,pfam_DUF3454_notch		0.597	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	A	NM_024408		120458064	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.994	C	C	120458064	A	C	120458064	3	2	58	1	0	0	0	0	1	0	0	0	10572	40	2	5	138	5	NOTCH2	1	120458064	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	1934114	120458064	128792557	63	7813										
TXNIP	10628	genome.wustl.edu	37	chr1	145440941	145440941	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtcattcctgaagatcaccGattggagagcccaaccactc	8	13	2	3	rs72563166	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:145440941G>C	ENST00000369317.4	+	7	1362	c.1028G>C	c.(1027-1029)cGa>cCa	p.R343P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	343					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.R343P(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAGATCACCGATTGGAGAGC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											161	157	158					1																	145440941		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1028G>C	1.37:g.145440941G>C	ENSP00000358323:p.Arg343Pro		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R343P	ENST00000369317.4	37	c.1028	CCDS913.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949468	0.53186	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.12984	3.03;2.63	5.18	4.27	0.50696	.	0.203990	0.40469	N	0.001092	T	0.09992	0.0245	L	0.34521	1.04	0.40746	D	0.982876	D;D	0.67145	0.983;0.996	P;P	0.56278	0.701;0.795	T	0.15350	-1.0440	10	0.27082	T	0.32	-18.6834	11.6792	0.51448	0.0855:0.0:0.9145:0.0	.	288;343	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	P	343;288	ENSP00000358323:R343P;ENSP00000396322:R288P	ENSP00000358323:R343P	R	+	2	0	TXNIP	144152298	1.000000	0.71417	0.625000	0.29200	0.848000	0.48234	6.491000	0.73649	1.432000	0.47375	-0.150000	0.13652	CGA	TXNIP	-	NULL		0.473	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	G	NM_006472		145440941	1	no_errors	ENST00000369317	ensembl	human	known	70_37	missense	SNP	0.798	C	C	145440941	G	C	145440941	3	2	58	1	0	0	0	0	1	0	0	0	16834	1058	37	1	1054	1	TXNIP	1	145440941	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	24982877	145440941	103809680	64	7814										
PIAS3	10401	genome.wustl.edu	37	chr1	145584227	145584227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagctcatcagatgaggagGatctgccccctaccaagaag	10	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:145584227G>A	ENST00000393045.2	+	11	1468	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	PIAS3_ENST00000369298.1_Missense_Mutation_p.D425N	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	460	SUMO1-binding. {ECO:0000250}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.D451N(1)|p.D460N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATGAGGAGGATCTGCCCCC	0.507																																																	2	Substitution - Missense(2)	cervix(2)											124	128	127					1																	145584227		2203	4300	6503	SO:0001583	missense	10401			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1378G>A	1.37:g.145584227G>A	ENSP00000376765:p.Asp460Asn		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.D460N	ENST00000393045.2	37	c.1378	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140366	0.77775	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.35605	1.31;1.3	5.64	5.64	0.86602	.	0.168163	0.40469	N	0.001088	T	0.45657	0.1353	L	0.43923	1.385	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.23833	-1.0177	10	0.54805	T	0.06	-16.8922	17.243	0.87019	0.0:0.0:1.0:0.0	.	460	Q9Y6X2	PIAS3_HUMAN	N	460;425	ENSP00000376765:D460N;ENSP00000358304:D425N	ENSP00000358304:D425N	D	+	1	0	PIAS3	144295584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.345000	0.79337	2.937000	0.99478	0.650000	0.86243	GAT	PIAS3	-	NULL		0.507	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	G	NM_006099		145584227	1	no_errors	ENST00000393045	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145584227	G	A	145584227	3	1	58	1	0	0	0	0	1	0	0	0	11901	1174	41	1	1420	1	PIAS3	1	145584227	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	143286	145584227	103666394	65	7815										
FMO5	2330	genome.wustl.edu	37	chr1	146687380	146687380	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcatacatcctgaaatactCcaggacctgggcattatgca	9	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:146687380C>G	ENST00000254090.4	-	3	656	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	FMO5_ENST00000441068.2_Missense_Mutation_p.E90Q|FMO5_ENST00000369272.3_Missense_Mutation_p.E90Q|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000465173.1_5'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	90						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.E90Q(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTGAAATACTCCAGGACCTGG	0.373																																																	2	Substitution - Missense(2)	cervix(2)											127	123	125					1																	146687380		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.268G>C	1.37:g.146687380C>G	ENSP00000254090:p.Glu90Gln		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.E90Q	ENST00000254090.4	37	c.268	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306426	0.60305	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	6.14	6.14	0.99180	.	0.204898	0.56097	D	0.000029	T	0.39306	0.1073	N	0.20881	0.62	0.45183	D	0.998199	B;B;B;B	0.29627	0.028;0.035;0.252;0.141	B;B;B;B	0.37833	0.063;0.175;0.257;0.259	T	0.27502	-1.0072	10	0.32370	T	0.25	-32.9416	18.3535	0.90348	0.0:1.0:0.0:0.0	.	90;90;90;90	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	Q	90	ENSP00000416011:E90Q;ENSP00000254090:E90Q;ENSP00000358277:E90Q;ENSP00000436429:E90Q;ENSP00000432569:E90Q	ENSP00000254090:E90Q	E	-	1	0	FMO5	145154004	0.926000	0.31397	0.893000	0.35052	0.951000	0.60555	1.736000	0.38187	2.937000	0.99478	0.650000	0.86243	GAG	FMO5	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1		0.373	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	C	NM_001461		146687380	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	missense	SNP	1.000	G	G	146687380	C	G	146687380	3	3	58	1	0	0	0	0	1	0	0	0	5976	864	30	1	1504	1	FMO5	1	146687380	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1103153	146687380	102563241	66	7816										
BCL9	607	genome.wustl.edu	37	chr1	147090719	147090719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaattcttcccagaataccaGactgcagccaactccaccca	5	16	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:147090719G>C	ENST00000234739.3	+	8	1498	c.758G>C	c.(757-759)aGa>aCa	p.R253T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	253	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R253T(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGAATACCAGACTGCAGCCA	0.582			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	cervix(1)											85	88	87					1																	147090719		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.758G>C	1.37:g.147090719G>C	ENSP00000234739:p.Arg253Thr		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R253T	ENST00000234739.3	37	c.758	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496767	0.26861	.	.	ENSG00000116128	ENST00000234739	T	0.62941	-0.01	5.46	4.48	0.54585	.	0.045635	0.85682	D	0.000000	T	0.19287	0.0463	N	0.08118	0	0.35573	D	0.805653	B;B	0.27559	0.181;0.181	B;B	0.21151	0.033;0.033	T	0.10941	-1.0608	10	0.34782	T	0.22	-15.3606	4.514	0.11926	0.2689:0.0:0.7311:0.0	.	253;253	Q1JQ81;O00512	.;BCL9_HUMAN	T	253	ENSP00000234739:R253T	ENSP00000234739:R253T	R	+	2	0	BCL9	145557343	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.442000	0.66575	2.840000	0.97914	0.655000	0.94253	AGA	BCL9	-	NULL		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147090719	1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147090719	G	C	147090719	3	2	58	1	0	0	0	0	1	0	0	0	1382	942	33	1	776	1	BCL9	1	147090719	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	403339	147090719	102159902	67	7817										
HIST2H2AB	317772	genome.wustl.edu	37	chr1	149859223	149859223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacggctagttgcagatggcGagggatgatgcgcgtcttct	15	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:149859223G>C	ENST00000331128.3	-	1	243	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R82G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGCAGATGGCGAGGGATGATG	0.612																																																	1	Substitution - Missense(1)	cervix(1)											95	88	91					1																	149859223		2203	4300	6503	SO:0001583	missense	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.244C>G	1.37:g.149859223G>C	ENSP00000332790:p.Arg82Gly			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R82G	ENST00000331128.3	37	c.244	CCDS938.1	1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049188	0.55110	.	.	ENSG00000184270	ENST00000331128	T	0.71934	-0.61	4.49	4.49	0.54785	Histone-fold (2);Histone core (1);Histone H2A (2);	0.100753	0.43919	D	0.000501	D	0.89413	0.6708	H	0.98754	4.32	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.93091	0.6500	10	0.87932	D	0	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	82	Q8IUE6	H2A2B_HUMAN	G	82	ENSP00000332790:R82G	ENSP00000332790:R82G	R	-	1	0	HIST2H2AB	148125847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	2.480000	0.83734	0.561000	0.74099	CGC	HIST2H2AB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.612	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	HGNC	protein_coding	OTTHUMT00000033440.1	G	NM_175065		149859223	-1	no_errors	ENST00000331128	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149859223	G	C	149859223	3	2	58	1	0	0	0	0	1	0	0	0	7197	1058	37	1	152	1	HIST2H2AB	1	149859223	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2768504	149859223	99391398	68	7818										
CA14	23632	genome.wustl.edu	37	chr1	150234978	150234978	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acagcttgagtgaggctgctGagaggcctcagggcctggct	16	10	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150234978G>C	ENST00000369111.4	+	5	1424	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	152					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.R153fs*12(1)|p.E152Q(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TGAGGCTGCTGAGAGGCCTCA	0.522																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	cervix(1)|large_intestine(1)											121	119	120					1																	150234978		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.454G>C	1.37:g.150234978G>C	ENSP00000358107:p.Glu152Gln		Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.E152Q	ENST00000369111.4	37	c.454	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	5.725	0.318265	0.10845	.	.	ENSG00000118298	ENST00000369111	T	0.66815	-0.23	5.95	3.01	0.34805	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.870672	0.10403	N	0.678908	T	0.11750	0.0286	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35624	-0.9781	10	0.05833	T	0.94	.	8.9682	0.35890	0.2776:0.449:0.2735:0.0	.	152	Q9ULX7	CAH14_HUMAN	Q	152	ENSP00000358107:E152Q	ENSP00000358107:E152Q	E	+	1	0	CA14	148501602	0.000000	0.05858	0.006000	0.13384	0.625000	0.37756	0.010000	0.13242	0.378000	0.24764	-0.232000	0.12228	GAG	CA14	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.522	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	G	NM_012113		150234978	1	no_errors	ENST00000369111	ensembl	human	known	70_37	missense	SNP	0.001	C	C	150234978	G	C	150234978	3	2	58	1	0	0	0	0	1	0	0	0	2520	1291	45	1	472	1	CA14	1	150234978	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	375755	150234978	99015643	69	7819										
TARS2	80222	genome.wustl.edu	37	chr1	150463113	150463113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacccatgtcctgggggcaGcagctgaacaattcctaggt	12	12	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150463113G>A	ENST00000369064.3	+	4	458	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TARS2_ENST00000606933.1_Missense_Mutation_p.A142T|TARS2_ENST00000369054.2_Missense_Mutation_p.A142T|TARS2_ENST00000438568.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	142					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A142T(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCTGGGGGCAGCAGCTGAACA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											99	97	98					1																	150463113		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.424G>A	1.37:g.150463113G>A	ENSP00000358060:p.Ala142Thr		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.A142T	ENST00000369064.3	37	c.424	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113988	0.77210	.	.	ENSG00000143374	ENST00000369054;ENST00000369064	T;T	0.24151	1.87;1.87	5.36	5.36	0.76844	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.063956	0.64402	D	0.000006	T	0.50820	0.1638	H	0.95365	3.66	0.80722	D	1	D;B	0.76494	0.999;0.034	D;B	0.66084	0.941;0.018	T	0.62599	-0.6820	10	0.09590	T	0.72	-17.6236	18.8867	0.92381	0.0:0.0:1.0:0.0	.	142;142	Q9H9V2;Q9BW92	.;SYTM_HUMAN	T	142	ENSP00000358050:A142T;ENSP00000358060:A142T	ENSP00000358050:A142T	A	+	1	0	TARS2	148729737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.774000	0.95407	0.655000	0.94253	GCA	TARS2	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa		0.478	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	G	NM_025150		150463113	1	no_errors	ENST00000369064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150463113	G	A	150463113	3	1	58	1	0	0	0	0	1	0	0	0	15590	971	34	4	438	4	TARS2	1	150463113	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	228135	150463113	98787508	70	7820										
HORMAD1	84072	genome.wustl.edu	37	chr1	150671183	150671183	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctttttggcactgactcttGactagaagaatcaaagtgat	8	8	2	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150671183G>A	ENST00000361824.2	-	15	1237	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	HORMAD1_ENST00000368995.4_Nonsense_Mutation_p.Q298*|GOLPH3L_ENST00000540514.1_5'Flank|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.Q371*|GOLPH3L_ENST00000479757.1_5'Flank|GOLPH3L_ENST00000271732.3_5'Flank|HORMAD1_ENST00000368993.2_Nonsense_Mutation_p.Q378*	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	378					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.Q378*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGACTCTTGACTAGAAGAA	0.323																																																	1	Substitution - Nonsense(1)	cervix(1)											79	82	81					1																	150671183		2203	4299	6502	SO:0001587	stop_gained	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1132C>T	1.37:g.150671183G>A	ENSP00000355167:p.Gln378*		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Nonsense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.Q378*	ENST00000361824.2	37	c.1132	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820824	0.71028	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	.	.	.	4.98	4.03	0.46877	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.3857	13.455	0.61193	0.0:0.0:0.843:0.157	.	.	.	.	X	298;378;307;298;371;378	.	ENSP00000326489:Q371X	Q	-	1	0	HORMAD1	148937807	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	3.480000	0.53172	2.289000	0.77006	0.455000	0.32223	CAA	HORMAD1	-	NULL		0.323	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	G	NM_032132		150671183	-1	no_errors	ENST00000361824	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	150671183	G	A	150671183	4	1	58	1	0	0	0	0	0	1	0	0	7306	1299	45	1	56	1	HORMAD1	1	150671183	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	208070	150671183	98579438	71	7821										
PRUNE	58497	genome.wustl.edu	37	chr1	150999800	150999800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgcaatatatatggatttGgaggtaagagcaagttgtgg	14	2	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150999800G>C	ENST00000271620.3	+	6	927	c.771G>C	c.(769-771)ttG>ttC	p.L257F	PRUNE_ENST00000368936.1_Missense_Mutation_p.L75F|PRUNE_ENST00000368935.1_Missense_Mutation_p.L25F|PRUNE_ENST00000368937.1_Missense_Mutation_p.L75F|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368934.1_Missense_Mutation_p.L75F|PRUNE_ENST00000271619.8_Missense_Mutation_p.L98F	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	257						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)	p.L257F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATATGGATTTGGAGGTAAGAG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											174	148	157					1																	150999800		2203	4300	6503	SO:0001583	missense	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.771G>C	1.37:g.150999800G>C	ENSP00000271620:p.Leu257Phe		B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	pfam_DHHA2,pfam_Pesterase_RecJ	p.L257F	ENST00000271620.3	37	c.771	CCDS977.1	1	.	.	.	.	.	.	.	.	.	.	-	15.93	2.977669	0.53720	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368935;ENST00000368934	T;T;T;T;T;T;T	0.38560	1.27;1.27;1.3;1.27;1.13;1.27;1.3	4.68	4.68	0.58851	DHHA2 (1);	0.101160	0.40818	N	0.001012	T	0.53254	0.1785	M	0.83953	2.67	0.40537	D	0.980989	P;D	0.52996	0.946;0.957	P;D	0.64144	0.753;0.922	T	0.59841	-0.7378	10	0.62326	D	0.03	.	8.6709	0.34149	0.1018:0.0:0.8982:0.0	.	98;257	E9PCU1;Q86TP1	.;PRUNE_HUMAN	F	75;257;190;98;75;75;75;25;75	ENSP00000271620:L257F;ENSP00000271619:L98F;ENSP00000357933:L75F;ENSP00000392632:L75F;ENSP00000357932:L75F;ENSP00000357931:L25F;ENSP00000357930:L75F	ENSP00000271619:L98F	L	+	3	2	PRUNE	149266424	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.888000	0.39708	2.424000	0.82194	0.457000	0.33378	TTG	PRUNE	-	pfam_DHHA2		0.473	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	G	NM_021222		150999800	1	no_errors	ENST00000271620	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150999800	G	C	150999800	3	2	58	1	0	0	0	0	1	0	0	0	12667	1339	47	4	793	4	PRUNE	1	150999800	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	328617	150999800	98250821	72	7822										
PIP5K1A	8394	genome.wustl.edu	37	chr1	151206945	151206945	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgacatgtacaacgctctCtgtaagaccctgcagcgtga	10	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:151206945C>T	ENST00000368888.4	+	8	1334	c.912C>T	c.(910-912)ctC>ctT	p.L304L	PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000414290.2_Silent_p.L5L|PIP5K1A_ENST00000368890.4_Silent_p.L291L|PIP5K1A_ENST00000441902.2_Silent_p.L292L|PIP5K1A_ENST00000409426.1_Silent_p.L292L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.L304L(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAACGCTCTCTGTAAGACCC	0.403																																					Pancreas(80;36 1443 2325 16095 21302)												1	Substitution - coding silent(1)	cervix(1)											81	77	78					1																	151206945		2203	4300	6503	SO:0001819	synonymous_variant	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.912C>T	1.37:g.151206945C>T			A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.L304	ENST00000368888.4	37	c.912	CCDS44219.1	1																																																																																			PIP5K1A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.403	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	C	NM_003557		151206945	1	no_errors	ENST00000368888	ensembl	human	known	70_37	silent	SNP	0.254	T	T	151206945	C	T	151206945	2	4	58	1	0	0	0	0	0	0	0	1	11963	900	32	1		1	PIP5K1A	1	151206945	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	207145	151206945	98043676	73	7823										
ZNF687	5298	genome.wustl.edu	37	chr1	151262918	151262918	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccatttcaggtattgcacaGagggaaaacgcaccttcagc	9	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:151262918G>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.R1050T			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.E1030Q(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTATTGCACAGAGGGAAAACG	0.642																																					Colon(154;765 1838 9854 28443 37492)												1	Substitution - Missense(1)	cervix(1)											64	69	67					1																	151262918		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262918G>C			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1030Q	ENST00000368873.1	37	c.3088		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404669|4.404669	0.83230|0.83230	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000426871|ENST00000368879	T;T|T	0.00995|0.00659	5.46;5.46|5.94	5.27|5.27	5.27|5.27	0.74061|0.74061	Zinc finger, C2H2-like (1);|.	0.000000|.	0.34435|.	U|.	0.003967|.	T|T	0.00608|0.00608	0.0020|0.0020	L|L	0.39898|0.39898	1.24|1.24	0.36177|0.36177	D|D	0.849145|0.849145	D|P	0.76494|0.43477	0.999|0.808	D|P	0.72338|0.44359	0.977|0.447	T|T	0.81534|0.81534	-0.0889|-0.0889	10|9	0.54805|0.20519	T|T	0.06|0.43	.|.	16.4354|16.4354	0.83873|0.83873	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1030|1050	Q8N1G0|Q8N1G0-2	ZN687_HUMAN|.	Q|T	1030;1030;653|1050	ENSP00000336620:E1030Q;ENSP00000319829:E1030Q|ENSP00000357874:R1050T	ENSP00000319829:E1030Q|ENSP00000357874:R1050T	E|R	+|+	1|2	0|0	ZNF687|ZNF687	149529542|149529542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.443000|6.443000	0.73447|0.73447	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GAG|AGA	ZNF687	-	smart_Znf_C2H2-like		0.642	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding	OTTHUMT00000034400.3	G	NM_002651		151262918	1	no_errors	ENST00000324048	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151262918	G	C	151262918	1	2	58	0	1	0	0	0	0	0	0	0	18122	943	33	1		1	ZNF687	1	151262918	IGR	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	55973	151262918	97987703	74	7824										
HRNR	388697	genome.wustl.edu	37	chr1	152191898	152191898	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtgttgttcactcctagatGactgtcctgacctagagccg	10	12	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152191898G>A	ENST00000368801.2	-	3	2282	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	736					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S736L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCCTAGATGACTGTCCTGA	0.557																																																	1	Substitution - Missense(1)	cervix(1)											203	198	199					1																	152191898		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2207C>T	1.37:g.152191898G>A	ENSP00000357791:p.Ser736Leu		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S736L	ENST00000368801.2	37	c.2207	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	6.490	0.458638	0.12342	.	.	ENSG00000197915	ENST00000368801	T	0.17528	2.27	2.81	1.85	0.25348	.	.	.	.	.	T	0.04998	0.0134	L	0.53249	1.67	0.09310	N	1	P	0.37233	0.588	B	0.33196	0.159	T	0.33854	-0.9852	9	0.25751	T	0.34	.	6.9343	0.24459	0.0:0.0:0.7258:0.2742	.	736	Q86YZ3	HORN_HUMAN	L	736	ENSP00000357791:S736L	ENSP00000357791:S736L	S	-	2	0	HRNR	150458522	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.026000	0.30103	0.480000	0.27534	0.508000	0.49915	TCA	HRNR	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	G	XM_373868		152191898	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.001	A	A	152191898	G	A	152191898	3	1	58	1	0	0	0	0	1	0	0	0	7379	1294	45	1	6349	1	HRNR	1	152191898	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	928980	152191898	97058723	75	7825										
FLG2	388698	genome.wustl.edu	37	chr1	152329907	152329907	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgtcctggtgtatcctcttCatcctcttctgtttcacttt	5	12	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152329907C>G	ENST00000388718.5	-	3	427	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	119					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E119Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCCTCTTCATCCTCTTCT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											183	161	169					1																	152329907		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.355G>C	1.37:g.152329907C>G	ENSP00000373370:p.Glu119Gln		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E119Q	ENST00000388718.5	37	c.355	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263722	0.39995	.	.	ENSG00000143520	ENST00000388718	T	0.00705	5.81	5.29	5.29	0.74685	.	.	.	.	.	T	0.01730	0.0055	M	0.65498	2.005	0.33093	D	0.538253	D	0.89917	1.0	D	0.69654	0.965	T	0.56956	-0.7893	9	0.41790	T	0.15	.	14.4323	0.67259	0.0:1.0:0.0:0.0	.	119	Q5D862	FILA2_HUMAN	Q	119	ENSP00000373370:E119Q	ENSP00000373370:E119Q	E	-	1	0	FLG2	150596531	0.856000	0.29760	0.987000	0.45799	0.436000	0.31835	1.444000	0.35068	2.485000	0.83878	0.460000	0.39030	GAA	FLG2	-	NULL		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152329907	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.990	G	G	152329907	C	G	152329907	3	3	58	1	0	0	0	0	1	0	0	0	5941	835	29	1	6824	1	FLG2	1	152329907	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	138009	152329907	96920714	76	7826										
CRNN	49860	genome.wustl.edu	37	chr1	152382129	152382129	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctgtgatgcctcgcttctCttctgactgggctgcatcct	10	13	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152382129C>A	ENST00000271835.3	-	3	1491	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	477					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E477*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCTTCTCTTCTGACTGG	0.537																																																	1	Substitution - Nonsense(1)	cervix(1)											174	134	148					1																	152382129		2203	4300	6503	SO:0001587	stop_gained	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1429G>T	1.37:g.152382129C>A	ENSP00000271835:p.Glu477*		B2RE60|Q8N613	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E477*	ENST00000271835.3	37	c.1429	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735140	0.69189	.	.	ENSG00000143536	ENST00000271835	.	.	.	4.92	2.84	0.33178	.	0.477525	0.17870	N	0.159205	.	.	.	.	.	.	0.35451	D	0.795681	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.9504	0.24542	0.0:0.8108:0.0:0.1892	.	.	.	.	X	477	.	ENSP00000271835:E477X	E	-	1	0	CRNN	150648753	0.004000	0.15560	0.001000	0.08648	0.040000	0.13550	0.699000	0.25586	0.441000	0.26529	0.650000	0.86243	GAG	CRNN	-	NULL		0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	C	NM_016190		152382129	-1	no_errors	ENST00000271835	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	152382129	C	A	152382129	4	1	58	1	0	0	0	0	0	1	0	0	3897	922	32	3	62	3	CRNN	1	152382129	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	52222	152382129	96868492	77	7827										
LCE1B	353132	genome.wustl.edu	37	chr1	152785089	152785089	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggctgctgtggctccagctCtgggggaagctgtggctcca	16	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152785089C>G	ENST00000360090.3	+	1	643	c.167C>G	c.(166-168)tCt>tGt	p.S56C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	56	Gly-rich.				keratinization (GO:0031424)			p.S56C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTCCAGCTCTGGGGGAAGC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											60	68	65					1																	152785089		2203	4300	6503	SO:0001583	missense	353132			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.167C>G	1.37:g.152785089C>G	ENSP00000353203:p.Ser56Cys		A4IF40	Missense_Mutation	SNP	NULL	p.S56C	ENST00000360090.3	37	c.167	CCDS1027.1	1	.	.	.	.	.	.	.	.	.	.	C	7.529	0.658247	0.14645	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.03982	3.74	4.52	1.3	0.21679	.	.	.	.	.	T	0.08980	0.0222	M	0.86420	2.815	0.09310	N	1	D	0.63046	0.992	P	0.54629	0.757	T	0.04386	-1.0955	9	0.87932	D	0	.	12.8304	0.57742	0.0:0.41:0.59:0.0	.	56	Q5T7P3	LCE1B_HUMAN	C	56	ENSP00000353203:S56C	ENSP00000353203:S56C	S	+	2	0	LCE1B	151051713	0.000000	0.05858	0.024000	0.17045	0.951000	0.60555	-0.648000	0.05391	0.149000	0.19098	0.603000	0.83216	TCT	LCE1B	-	NULL		0.642	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1B	HGNC	protein_coding	OTTHUMT00000040060.1	C	NM_178349		152785089	1	no_errors	ENST00000360090	ensembl	human	known	70_37	missense	SNP	0.140	G	G	152785089	C	G	152785089	3	3	58	1	0	0	0	0	1	0	0	0	8680	913	32	1	169	1	LCE1B	1	152785089	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	402960	152785089	96465532	78	7828										
SMCP	4184	genome.wustl.edu	37	chr1	152857023	152857023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccaccaaaacagaaccagtGctgccagccaaaaggcagtc	8	15	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152857023G>A	ENST00000368765.3	+	2	275	c.125G>A	c.(124-126)tGc>tAc	p.C42Y		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	42	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.C42Y(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAACCAGTGCTGCCAGCCA	0.537																																																	1	Substitution - Missense(1)	cervix(1)											146	131	136					1																	152857023		2203	4300	6503	SO:0001583	missense	4184			BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"mitochondrial capsule selenoprotein"	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.125G>A	1.37:g.152857023G>A	ENSP00000357754:p.Cys42Tyr		Q96A42	Missense_Mutation	SNP	NULL	p.C42Y	ENST00000368765.3	37	c.125	CCDS1029.1	1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085719	0.20390	.	.	ENSG00000163206	ENST00000368765	T	0.60548	0.18	3.76	2.83	0.33086	.	.	.	.	.	T	0.46328	0.1387	L	0.43923	1.385	0.09310	N	1	D	0.58620	0.983	P	0.55999	0.789	T	0.23084	-1.0198	9	0.54805	T	0.06	2.3045	9.2986	0.37831	0.0:0.2199:0.7801:0.0	.	42	P49901	MCSP_HUMAN	Y	42	ENSP00000357754:C42Y	ENSP00000357754:C42Y	C	+	2	0	SMCP	151123647	0.001000	0.12720	0.052000	0.19188	0.004000	0.04260	0.634000	0.24614	1.144000	0.42321	0.655000	0.94253	TGC	SMCP	-	NULL		0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCP	HGNC	protein_coding	OTTHUMT00000034665.1	G	NM_030663		152857023	1	no_errors	ENST00000368765	ensembl	human	known	70_37	missense	SNP	0.052	A	A	152857023	G	A	152857023	3	1	58	1	0	0	0	0	1	0	0	0	14819	1319	46	4	127	4	SMCP	1	152857023	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	71934	152857023	96393598	79	7829										
INTS3	65123	genome.wustl.edu	37	chr1	153742319	153742319	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gactcagttctcaacatactCagtaagtgatcaaatcttta	5	9	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:153742319C>G	ENST00000318967.2	+	23	2956	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	INTS3_ENST00000435409.2_Splice_Site_p.L796L|INTS3_ENST00000512605.1_Splice_Site_p.L590L|INTS3_ENST00000456435.1_Splice_Site_p.L590L|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	797					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.L796L(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAACATACTCAGTAAGTGAT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											97	87	90					1																	153742319		2203	4300	6503	SO:0001630	splice_region_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2389+1C>G	1.37:g.153742319C>G			A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Int_cplx_su3	p.L796	ENST00000318967.2	37	c.2388	CCDS1052.1	1																																																																																			INTS3	-	NULL		0.507	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	C	NM_023015	Silent	153742319	1	no_errors	ENST00000318967	ensembl	human	known	70_37	silent	SNP	1.000	G	G	153742319	C	G	153742319	5	3	58	1	0	0	0	0	0	0	1	0	7799	840	29	1	2478	1	INTS3	1	153742319	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	885296	153742319	95508302	80	7830										
GATAD2B	57459	genome.wustl.edu	37	chr1	153784602	153784602	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgctgctgtaatcgctgttCaatttcctgttgggagtcat	10	9	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:153784602C>G	ENST00000368655.4	-	9	1669	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	476	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATCGCTGTTCAATTTCCTGT	0.458																																																	0													104	108	106					1																	153784602		2203	4300	6503	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1426G>C	1.37:g.153784602C>G	ENSP00000357644:p.Glu476Gln		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.E476Q	ENST00000368655.4	37	c.1426	CCDS1054.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.103080	0.94245	.	.	ENSG00000143614	ENST00000368655	T	0.55413	0.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.64170	1.965	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.67496	-0.5656	10	0.87932	D	0	-1.6351	17.652	0.88167	0.0:1.0:0.0:0.0	.	476	Q8WXI9	P66B_HUMAN	Q	476	ENSP00000357644:E476Q	ENSP00000357644:E476Q	E	-	1	0	GATAD2B	152051226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.370000	0.79589	2.712000	0.92718	0.650000	0.86243	GAA	GATAD2B	-	NULL		0.458	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD2B	HGNC	protein_coding	OTTHUMT00000090305.1	C	NM_020699		153784602	-1	no_errors	ENST00000368655	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153784602	C	G	153784602	3	3	58	1	0	0	0	0	1	0	0	0	6280	835	29	1	367	1	GATAD2B	1	153784602	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	42283	153784602	95466019	81	7831										
CRTC2	200186	genome.wustl.edu	37	chr1	153930904	153930904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttctgcagcgcaatcttctCactaaatttgcgcggattgg	9	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:153930904C>T	ENST00000368633.1	-	1	197	c.70G>A	c.(70-72)Gag>Aag	p.E24K	CRTC2_ENST00000368630.3_Missense_Mutation_p.E24K|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	24					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.E24K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAATCTTCTCACTAAATTTG	0.677																																																	1	Substitution - Missense(1)	cervix(1)											24	26	25					1																	153930904		2203	4299	6502	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.70G>A	1.37:g.153930904C>T	ENSP00000357622:p.Glu24Lys		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.E24K	ENST00000368633.1	37	c.70	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.425957	0.97559	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.26518	1.73;1.73	5.98	5.98	0.97165	Transducer of regulated CREB activity, N-terminal (1);	0.138523	0.47093	D	0.000241	T	0.48926	0.1527	M	0.80183	2.485	0.46458	D	0.999051	D	0.76494	0.999	D	0.81914	0.995	T	0.50406	-0.8832	10	0.87932	D	0	-13.9002	17.9305	0.88996	0.0:1.0:0.0:0.0	.	24	Q53ET0	CRTC2_HUMAN	K	24	ENSP00000357619:E24K;ENSP00000357622:E24K	ENSP00000305873:E24K	E	-	1	0	CRTC2	152197528	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.544000	0.73878	2.837000	0.97791	0.591000	0.81541	GAG	CRTC2	-	NULL		0.677	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	C	NM_181715		153930904	-1	no_errors	ENST00000368633	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153930904	C	T	153930904	3	4	58	1	0	0	0	0	1	0	0	0	3905	835	29	1	2067	1	CRTC2	1	153930904	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	146302	153930904	95319717	82	7832										
NUP210L	91181	genome.wustl.edu	37	chr1	154000067	154000067	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atagaagagttggagtttttCaaacacctataatgagaaaa	8	4	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:154000067C>G	ENST00000368559.3	-	29	3933	c.3862G>C	c.(3862-3864)Gaa>Caa	p.E1288Q	NUP210L_ENST00000368553.1_Missense_Mutation_p.E221Q|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1288Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1288					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.E1288Q(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAGTTTTTCAAACACCTAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											117	104	108					1																	154000067		1844	4094	5938	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3862G>C	1.37:g.154000067C>G	ENSP00000357547:p.Glu1288Gln		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.E1288Q	ENST00000368559.3	37	c.3862	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544739	0.86022	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.27256	3.27;1.68;3.03	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.38746	0.1052	L	0.53249	1.67	0.47778	D	0.999514	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.915	T	0.02713	-1.1120	10	0.41790	T	0.15	-11.4609	17.5978	0.88016	0.0:1.0:0.0:0.0	.	1288;1288	E7EP56;Q5VU65	.;P210L_HUMAN	Q	1288;221;1288	ENSP00000357547:E1288Q;ENSP00000357541:E221Q;ENSP00000271854:E1288Q	ENSP00000271854:E1288Q	E	-	1	0	NUP210L	152266691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.961000	0.70356	2.696000	0.92011	0.655000	0.94253	GAA	NUP210L	-	NULL		0.363	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154000067	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154000067	C	G	154000067	3	3	58	1	0	0	0	0	1	0	0	0	10785	835	29	1	1852	1	NUP210L	1	154000067	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	69163	154000067	95250554	83	7833										
CHRNB2	1141	genome.wustl.edu	37	chr1	154543731	154543731	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctatgatggcagcatcttCtggctgccgcctgccatcta	9	14	3	1	rs199536721		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:154543731C>T	ENST00000368476.3	+	5	696	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	144					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.F144F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCAGCATCTTCTGGCTGCCGC	0.537																																																	1	Substitution - coding silent(1)	cervix(1)						C		0,4406		0,0,2203	114	105	108		432	1.4	1	1		108	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CHRNB2	NM_000748.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		144/503	154543731	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.432C>T	1.37:g.154543731C>T			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F144	ENST00000368476.3	37	c.432	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel		0.537	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	C	NM_000748		154543731	1	no_errors	ENST00000368476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154543731	C	T	154543731	2	4	58	1	0	0	0	0	0	0	0	1	3396	912	32	1		1	CHRNB2	1	154543731	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	543664	154543731	94706890	84	7834										
KCNN3	3782	genome.wustl.edu	37	chr1	154744507	154744507	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacagagagatgctgaacacGagcagcacagtgccagggca	13	11	0	3	rs367863664		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:154744507G>A	ENST00000271915.4	-	3	1707	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	KCNN3_ENST00000361147.4_Silent_p.L159L|KCNN3_ENST00000358505.2_Silent_p.L151L	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	469					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L464L(1)|p.L159L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGCTGAACACGAGCAGCACAG	0.557																																																	2	Substitution - coding silent(2)	cervix(2)						G	,,	1,4405	2.1+/-5.4	0,1,2202	132	101	111		1392,1392,477	-9.3	0.2	1		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNN3	NM_001204087.1,NM_002249.5,NM_170782.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	464/747,464/732,159/427	154744507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1392C>T	1.37:g.154744507G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.L464	ENST00000271915.4	37	c.1392	CCDS30880.1	1																																																																																			KCNN3	-	NULL		0.557	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154744507	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	silent	SNP	0.065	A	A	154744507	G	A	154744507	2	1	58	1	0	0	0	0	0	0	0	1	8100	1045	37	1		1	KCNN3	1	154744507	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	200776	154744507	94506114	85	7835										
ADAM15	8751	genome.wustl.edu	37	chr1	155028694	155028694	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagggcacatttgctgcctCgattgccccatgacagtgcc	11	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155028694C>G	ENST00000356955.2	+	9	984	c.883C>G	c.(883-885)Cga>Gga	p.R295G	ADAM15_ENST00000447332.3_Missense_Mutation_p.R279G|ADAM15_ENST00000368412.3_Missense_Mutation_p.R295G|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.R295G|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.R295G|ADAM15_ENST00000360674.4_Missense_Mutation_p.R295G|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.R295G|ADAM15_ENST00000449910.2_Missense_Mutation_p.R295G|ADAM15_ENST00000531455.1_Missense_Mutation_p.R305G	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R295G(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTTGCTGCCTCGATTGCCCCA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											65	63	64					1																	155028694		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.883C>G	1.37:g.155028694C>G	ENSP00000349436:p.Arg295Gly		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R295G	ENST00000356955.2	37	c.883	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295615	0.60086	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.0	2.96	0.34315	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.214512	0.23389	N	0.048709	T	0.72137	0.3423	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.994;0.999;1.0;1.0;1.0;0.998;0.995	D;D;D;D;D;D;D;D;D;D	0.79784	0.992;0.99;0.983;0.954;0.992;0.993;0.982;0.982;0.984;0.973	T	0.75402	-0.3330	10	0.87932	D	0	.	11.4714	0.50270	0.3873:0.6127:0.0:0.0	.	305;312;279;295;295;295;295;295;295;295	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	G	295;295;295;295;295;295;295;305	ENSP00000349436:R295G;ENSP00000403843:R295G;ENSP00000352226:R295G;ENSP00000353892:R295G;ENSP00000357397:R295G;ENSP00000348227:R295G;ENSP00000271836:R295G;ENSP00000432927:R305G	ENSP00000271836:R295G	R	+	1	2	ADAM15	153295318	0.483000	0.25956	0.977000	0.42913	0.494000	0.33585	0.990000	0.29642	0.538000	0.28769	0.462000	0.41574	CGA	ADAM15	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155028694	1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.993	G	G	155028694	C	G	155028694	3	3	58	1	0	0	0	0	1	0	0	0	237	876	31	1	917	1	ADAM15	1	155028694	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	284187	155028694	94221927	86	7836										
DAP3	7818	genome.wustl.edu	37	chr1	155695199	155695199	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acattcagtgaagcttgcctGatggtaaggaaaccagccct	10	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155695199G>C	ENST00000368336.5	+	5	421	c.297G>C	c.(295-297)ctG>ctC	p.L99L	DAP3_ENST00000343043.3_Silent_p.L99L|DAP3_ENST00000421487.2_Silent_p.L65L|DAP3_ENST00000471642.2_Silent_p.L58L|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Silent_p.L58L	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	99					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.L99L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAGCTTGCCTGATGGTAAGGA	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											204	188	193					1																	155695199		2203	4300	6503	SO:0001819	synonymous_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.297G>C	1.37:g.155695199G>C			B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.L99	ENST00000368336.5	37	c.297	CCDS1120.1	1																																																																																			DAP3	-	pfam_Ribosomal_S23/S29_mit		0.463	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	G	NM_004632		155695199	1	no_errors	ENST00000343043	ensembl	human	known	70_37	silent	SNP	0.997	C	C	155695199	G	C	155695199	2	2	58	1	0	0	0	0	0	0	0	1	4239	1277	45	1		1	DAP3	1	155695199	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	666505	155695199	93555422	87	7837										
GON4L	54856	genome.wustl.edu	37	chr1	155735069	155735069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atctgtccctgaggttccttCatcagggggctcttgagaag	12	10	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155735069C>T	ENST00000368331.1	-	21	4243	c.4195G>A	c.(4195-4197)Gaa>Aaa	p.E1399K	GON4L_ENST00000271883.5_Missense_Mutation_p.E1399K|GON4L_ENST00000361040.5_Missense_Mutation_p.E1399K|GON4L_ENST00000437809.1_Missense_Mutation_p.E1399K|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1399					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1399K(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGTTCCTTCATCAGGGGGC	0.493																																																	3	Substitution - Missense(3)	cervix(3)											86	81	83					1																	155735069		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4195G>A	1.37:g.155735069C>T	ENSP00000357315:p.Glu1399Lys		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1399K	ENST00000368331.1	37	c.4195		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.07|16.07	3.020053|3.020053	0.54576|0.54576	.|.	.|.	ENSG00000116580|ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040|ENST00000539959	T;T;T;T|.	0.13657|.	2.78;2.78;2.78;2.57|.	5.19|5.19	4.27|4.27	0.50696|0.50696	.|.	0.546087|.	0.18434|.	N|.	0.141325|.	T|T	0.32645|0.32645	0.0836|0.0836	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;P;B;P|.	0.40144|.	0.063;0.704;0.418;0.554|.	B;B;B;B|.	0.36845|.	0.022;0.109;0.118;0.234|.	T|T	0.28299|0.28299	-1.0048|-1.0048	10|6	0.30078|0.24483	T|T	0.28|0.36	.|.	15.5167|15.5167	0.75830|0.75830	0.0:0.861:0.139:0.0|0.0:0.861:0.139:0.0	.|.	1399;595;1399;1399|.	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3|.	.;.;GON4L_HUMAN;.|.	K|I	1399|963	ENSP00000396117:E1399K;ENSP00000357315:E1399K;ENSP00000271883:E1399K;ENSP00000354322:E1399K|.	ENSP00000271883:E1399K|ENSP00000444059:M963I	E|M	-|-	1|3	0|0	GON4L|GON4L	154001693|154001693	0.104000|0.104000	0.21937|0.21937	0.004000|0.004000	0.12327|0.12327	0.047000|0.047000	0.14425|0.14425	1.668000|1.668000	0.37481|0.37481	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	GAA|ATG	GON4L	-	NULL		0.493	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155735069	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.052	T	T	155735069	C	T	155735069	3	4	58	1	0	0	0	0	1	0	0	0	6591	835	29	1	2692	1	GON4L	1	155735069	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	39870	155735069	93515552	88	7838										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155932738	155932738	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcccacctggctgatgagcaGatcacccaagcgatggatga	11	12	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155932738G>C	ENST00000361247.4	-	8	1060	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.L322V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.L320V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.L293V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.L293V|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.L366V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	321	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L293V(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGATGAGCAGATCACCCAAG	0.562																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - Missense(1)	cervix(1)											59	59	59					1																	155932738		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.961C>G	1.37:g.155932738G>C	ENSP00000354837:p.Leu321Val		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L322V	ENST00000361247.4	37	c.964	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	4.918	0.170596	0.09391	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	4.93	4.0	0.46444	Dbl homology (DH) domain (5);	0.000000	0.37623	N	0.002010	T	0.14527	0.0351	N	0.05280	-0.08	0.33943	D	0.643515	B;B;B;B	0.32526	0.033;0.166;0.374;0.137	B;B;B;B	0.35039	0.07;0.124;0.194;0.076	T	0.06534	-1.0821	10	0.17369	T	0.5	-18.8059	5.7578	0.18182	0.1002:0.0:0.7076:0.1921	.	366;365;321;320	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	293;321;322;293;366;294;320	ENSP00000315325:L293V;ENSP00000354837:L321V;ENSP00000357298:L322V;ENSP00000357299:L293V;ENSP00000314787:L320V	ENSP00000314787:L320V	L	-	1	2	ARHGEF2	154199362	0.996000	0.38824	1.000000	0.80357	0.697000	0.40408	0.290000	0.18975	1.402000	0.46780	0.609000	0.83330	CTG	ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.562	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155932738	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155932738	G	C	155932738	3	2	58	1	0	0	0	0	1	0	0	0	903	933	33	1	2059	1	ARHGEF2	1	155932738	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	197669	155932738	93317883	89	7839										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155934786	155934786	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtcttggcttaccatagatGacatcttgctgcttcatcac	8	11	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155934786G>A	ENST00000361247.4	-	7	816	c.717C>T	c.(715-717)gtC>gtT	p.V239V	ARHGEF2_ENST00000368315.4_Silent_p.V240V|ARHGEF2_ENST00000313667.4_Silent_p.V238V|ARHGEF2_ENST00000368316.1_Silent_p.V211V|ARHGEF2_ENST00000313695.7_Silent_p.V211V|ARHGEF2_ENST00000462460.2_Silent_p.V284V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	239	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V211V(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACCATAGATGACATCTTGCT	0.418																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - coding silent(1)	cervix(1)											155	137	143					1																	155934786		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.717C>T	1.37:g.155934786G>A			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.V240	ENST00000361247.4	37	c.720	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.418	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155934786	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155934786	G	A	155934786	2	1	58	1	0	0	0	0	0	0	0	1	903	1277	45	1		1	ARHGEF2	1	155934786	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2048	155934786	93315835	90	7840										
SSR2	6746	genome.wustl.edu	37	chr1	155988144	155988144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggaatcatcagatagttcCacgtctaatgcagcactaga	8	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155988144C>T	ENST00000295702.4	-	3	242	c.171G>A	c.(169-171)gtG>gtA	p.V57V	SSR2_ENST00000480567.1_Silent_p.V57V|SSR2_ENST00000496742.1_Intron|SSR2_ENST00000529008.1_Silent_p.V57V	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	57					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V57V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGATAGTTCCACGTCTAATG	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											106	99	102					1																	155988144		2203	4300	6503	SO:0001819	synonymous_variant	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.171G>A	1.37:g.155988144C>T			B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.V57	ENST00000295702.4	37	c.171	CCDS1126.1	1																																																																																			SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta		0.458	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155988144	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155988144	C	T	155988144	2	4	58	1	0	0	0	0	0	0	0	1	15221	581	21	4		4	SSR2	1	155988144	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	53358	155988144	93262477	91	7841										
UBQLN4	56893	genome.wustl.edu	37	chr1	156020186	156020186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatcatgtgacgcatcagatCagggttagacatcatatcct	8	9	4	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156020186C>T	ENST00000368309.3	-	4	729	c.637G>A	c.(637-639)Gat>Aat	p.D213N	UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	213					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.D213N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CGCATCAGATCAGGGTTAGAC	0.532																																																	1	Substitution - Missense(1)	cervix(1)											174	153	160					1																	156020186		2203	4300	6503	SO:0001583	missense	56893			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.637G>A	1.37:g.156020186C>T	ENSP00000357292:p.Asp213Asn		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.D213N	ENST00000368309.3	37	c.637	CCDS1127.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515544	0.85389	.	.	ENSG00000160803	ENST00000368309	T	0.79454	-1.27	4.49	4.49	0.54785	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.73380	0.78;0.98	T	0.80763	-0.1237	10	0.51188	T	0.08	-31.7997	15.9589	0.79910	0.0:1.0:0.0:0.0	.	193;213	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	N	213	ENSP00000357292:D213N	ENSP00000357292:D213N	D	-	1	0	UBQLN4	154286810	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.833000	0.69349	2.342000	0.79632	0.561000	0.74099	GAT	UBQLN4	-	smart_STI1_HS-bd		0.532	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	C	NM_020131		156020186	-1	no_errors	ENST00000368309	ensembl	human	known	70_37	missense	SNP	0.999	T	T	156020186	C	T	156020186	3	4	58	1	0	0	0	0	1	0	0	0	16930	826	29	1	1200	1	UBQLN4	1	156020186	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	32042	156020186	93230435	92	7842										
SEMA4A	64218	genome.wustl.edu	37	chr1	156131286	156131286	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctcccacagctccccacatCtacgcagtcttcacctccca	3	21	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156131286C>G	ENST00000368285.3	+	9	1227	c.960C>G	c.(958-960)atC>atG	p.I320M	SEMA4A_ENST00000368286.2_Missense_Mutation_p.I188M|SEMA4A_ENST00000368284.1_Missense_Mutation_p.I188M|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.I320M|SEMA4A_ENST00000355014.2_Missense_Mutation_p.I320M	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I320M(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTCCCCACATCTACGCAGTCT	0.672																																																	1	Substitution - Missense(1)	cervix(1)											52	48	49					1																	156131286		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.960C>G	1.37:g.156131286C>G	ENSP00000357268:p.Ile320Met		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.I320M	ENST00000368285.3	37	c.960	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276952	0.59758	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.42	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.213643	0.39475	N	0.001360	T	0.24812	0.0602	M	0.61703	1.905	0.33938	D	0.642867	P;P	0.38617	0.64;0.64	B;P	0.47891	0.436;0.56	T	0.10683	-1.0619	10	0.66056	D	0.02	.	13.1937	0.59726	0.0:0.9218:0.0:0.0782	.	188;320	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	M	320;320;320;188;282;282;188;320	ENSP00000401391:I320M;ENSP00000347117:I320M;ENSP00000357268:I320M;ENSP00000357267:I188M;ENSP00000357269:I188M;ENSP00000357265:I320M	ENSP00000347117:I320M	I	+	3	3	SEMA4A	154397910	1.000000	0.71417	0.981000	0.43875	0.469000	0.32828	1.098000	0.31000	1.280000	0.44463	0.455000	0.32223	ATC	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.672	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	C	NM_022367		156131286	1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156131286	C	G	156131286	3	3	58	1	0	0	0	0	1	0	0	0	14061	903	32	1	990	1	SEMA4A	1	156131286	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	111100	156131286	93119335	93	7843										
BCAN	63827	genome.wustl.edu	37	chr1	156622655	156622655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcccactgacagcgccagccGaggtggagtggccgtggtcc	16	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156622655G>T	ENST00000329117.5	+	8	2249	c.1913G>T	c.(1912-1914)cGa>cTa	p.R638L	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R638L	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	638					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R638L(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCGCCAGCCGAGGTGGAGTG	0.617																																																	2	Substitution - Missense(2)	cervix(2)											71	58	62					1																	156622655		2145	4231	6376	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1913G>T	1.37:g.156622655G>T	ENSP00000331210:p.Arg638Leu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.R638L	ENST00000329117.5	37	c.1913	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684104	0.29872	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.14266	2.52;3.38	4.3	-2.75	0.05914	.	1.592360	0.04786	N	0.430646	T	0.01387	0.0045	N	0.08118	0	0.09310	N	0.99999	B;B	0.30914	0.002;0.3	B;B	0.29663	0.001;0.105	T	0.39742	-0.9599	10	0.11182	T	0.66	3.1281	5.7602	0.18196	0.5525:0.0:0.3086:0.1389	.	638;638	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	638	ENSP00000331210:R638L;ENSP00000354925:R638L	ENSP00000331210:R638L	R	+	2	0	BCAN	154889279	0.000000	0.05858	0.027000	0.17364	0.989000	0.77384	-0.795000	0.04580	-0.823000	0.04301	0.455000	0.32223	CGA	BCAN	-	NULL		0.617	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	G	NM_021948		156622655	1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	0.039	T	T	156622655	G	T	156622655	3	4	58	1	0	0	0	0	1	0	0	0	1346	1058	37	3	1939	3	BCAN	1	156622655	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	491369	156622655	92627966	94	7844										
KIRREL	55243	genome.wustl.edu	37	chr1	158063415	158063415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcctctcccgtcccaggtCgcaaagacgtgaccctgagg	11	16	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158063415C>T	ENST00000359209.6	+	13	1649	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	KIRREL_ENST00000360089.4_Missense_Mutation_p.R364C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R544C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R428C|KIRREL_ENST00000368172.1_Missense_Mutation_p.R342C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R425C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	528					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R528C(1)|p.R544C(1)|p.R364C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGTCCCAGGTCGCAAAGACGT	0.607																																																	3	Substitution - Missense(3)	cervix(3)											75	67	69					1																	158063415		2203	4300	6503	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1582C>T	1.37:g.158063415C>T	ENSP00000352138:p.Arg528Cys		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R544C	ENST00000359209.6	37	c.1630	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972223	0.74246	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71341	0.38;-0.56;0.05;-0.19;-0.12;0.24	5.74	5.74	0.90152	.	0.000000	0.42172	D	0.000742	T	0.77157	0.4089	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.66602	0.927;0.945;0.925;0.925	T	0.78401	-0.2218	10	0.66056	D	0.02	-23.3055	17.4077	0.87477	0.0:1.0:0.0:0.0	.	428;364;342;528	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	364;544;425;528;428;342	ENSP00000353202:R364C;ENSP00000357155:R544C;ENSP00000376098:R425C;ENSP00000352138:R528C;ENSP00000389674:R428C;ENSP00000357154:R342C	ENSP00000352138:R528C	R	+	1	0	KIRREL	156330039	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	7.229000	0.78088	2.704000	0.92352	0.491000	0.48974	CGC	KIRREL	-	NULL		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	C	NM_018240		158063415	1	no_errors	ENST00000368173	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158063415	C	T	158063415	3	4	58	1	0	0	0	0	1	0	0	0	8344	884	31	1	1632	1	KIRREL	1	158063415	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1440760	158063415	91187206	95	7845										
OR10K2	391107	genome.wustl.edu	37	chr1	158390018	158390018	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaacataggacaccaagatCaacaataaggggatagccag	10	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158390018C>G	ENST00000314902.2	-	1	638	c.639G>C	c.(637-639)ttG>ttC	p.L213F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACACCAAGATCAACAATAAGG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											146	135	139					1																	158390018		2203	4300	6503	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.639G>C	1.37:g.158390018C>G	ENSP00000324251:p.Leu213Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L213F	ENST00000314902.2	37	c.639	CCDS30896.1	1	.	.	.	.	.	.	.	.	.	.	c	5.438	0.265919	0.10294	.	.	ENSG00000180708	ENST00000314902	T	0.42131	0.98	4.13	0.121	0.14695	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33938	N	0.004407	T	0.27967	0.0689	L	0.39085	1.19	0.28419	N	0.91784	D	0.89917	1.0	D	0.97110	1.0	T	0.06899	-1.0801	10	0.39692	T	0.17	.	3.2509	0.06814	0.2673:0.3513:0.0:0.3813	.	213	Q6IF99	O10K2_HUMAN	F	213	ENSP00000324251:L213F	ENSP00000324251:L213F	L	-	3	2	OR10K2	156656642	0.000000	0.05858	0.296000	0.24974	0.064000	0.16182	-0.895000	0.04118	0.149000	0.19098	0.461000	0.40582	TTG	OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	C	NM_001004476		158390018	-1	no_errors	ENST00000314902	ensembl	human	known	70_37	missense	SNP	0.660	G	G	158390018	C	G	158390018	3	3	58	1	0	0	0	0	1	0	0	0	10938	825	29	1	301	1	OR10K2	1	158390018	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	326603	158390018	90860603	96	7846										
OR10K2	391107	genome.wustl.edu	37	chr1	158390317	158390317	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ataacccatgactgccagcaGaaaggagtgagagcagccaa	11	10	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158390317G>A	ENST00000314902.2	-	1	339	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACTGCCAGCAGAAAGGAGTGA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											170	168	169					1																	158390317		2203	4300	6503	SO:0001819	synonymous_variant	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.340C>T	1.37:g.158390317G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L114	ENST00000314902.2	37	c.340	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.512	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	G	NM_001004476		158390317	-1	no_errors	ENST00000314902	ensembl	human	known	70_37	silent	SNP	0.992	A	A	158390317	G	A	158390317	2	1	58	1	0	0	0	0	0	0	0	1	10938	933	33	1		1	OR10K2	1	158390317	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	299	158390317	90860304	97	7847										
OR10X1	128367	genome.wustl.edu	37	chr1	158549183	158549183	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctctgtaagagagataaaGaagcctgcagtgcaagcaga	12	7	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158549183G>A	ENST00000368150.1	-	1	506	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F169F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											51	53	52					1																	158549183		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.507C>T	1.37:g.158549183G>A			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F169	ENST00000368150.1	37	c.507	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549183	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.000	A	A	158549183	G	A	158549183	2	1	58	1	0	0	0	0	0	0	0	1	10946	933	33	1		1	OR10X1	1	158549183	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	158866	158549183	90701438	98	7848										
OR6K2	81448	genome.wustl.edu	37	chr1	158669694	158669694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcacactgccaaagaagagcGaaaagacaatgaagtgagag	11	7	1	5	rs144883209	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158669694G>A	ENST00000359610.2	-	1	792	c.749C>T	c.(748-750)tCg>tTg	p.S250L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S250L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAGAAGAGCGAAAAGACAAT	0.473																																																	1	Substitution - Missense(1)	cervix(1)						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	119	109	113		749	2.6	1	1	dbSNP_134	113	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR6K2	NM_001005279.1	145	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	250/325	158669694	5,13001	2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.749C>T	1.37:g.158669694G>A	ENSP00000352626:p.Ser250Leu		B9EH33|Q6IFR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S250L	ENST00000359610.2	37	c.749	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	G	0.913	-0.718351	0.03182	2.27E-4	4.65E-4	ENSG00000196171	ENST00000359610	T	0.35048	1.33	4.94	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.242335	0.21223	N	0.078104	T	0.03520	0.0101	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	10	0.06236	T	0.91	-1.3216	5.4282	0.16438	0.6847:0.1488:0.1665:0.0	.	250	Q8NGY2	OR6K2_HUMAN	L	250	ENSP00000352626:S250L	ENSP00000352626:S250L	S	-	2	0	OR6K2	156936318	0.000000	0.05858	0.978000	0.43139	0.104000	0.19210	-0.287000	0.08388	0.903000	0.36546	-0.238000	0.12139	TCG	OR6K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	G	NM_001005279		158669694	-1	no_errors	ENST00000359610	ensembl	human	known	70_37	missense	SNP	0.000	A	A	158669694	G	A	158669694	3	1	58	1	0	0	0	0	1	0	0	0	11226	1059	37	1	229	1	OR6K2	1	158669694	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	120511	158669694	90580927	99	7849										
FCRL6	343413	genome.wustl.edu	37	chr1	159778006	159778006	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctggccaaaccctgtgtttGaaggagatgccctgactctg	11	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:159778006G>C	ENST00000368106.3	+	3	92	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	FCRL6_ENST00000321935.6_Missense_Mutation_p.E38Q|FCRL6_ENST00000392235.3_Missense_Mutation_p.E31Q|FCRL6_ENST00000339348.5_Missense_Mutation_p.E31Q	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	31	Ig-like C2-type 1.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E31Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCTGTGTTTGAAGGAGATGC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											67	59	62					1																	159778006		2203	4300	6503	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.91G>C	1.37:g.159778006G>C	ENSP00000357086:p.Glu31Gln		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E31Q	ENST00000368106.3	37	c.91	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255063	0.59321	.	.	ENSG00000181036	ENST00000321935;ENST00000536257;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	3.68	3.68	0.42216	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30603	0.0770	M	0.92923	3.36	0.27432	N	0.953963	D;D;D;D;D	0.76494	0.981;0.997;0.999;0.999;0.996	P;D;D;D;P	0.75020	0.832;0.977;0.964;0.985;0.866	T	0.14200	-1.0481	9	0.37606	T	0.19	.	11.2473	0.49004	0.0:0.0:1.0:0.0	.	26;31;31;31;38	B7Z710;Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;.;FCRL6_HUMAN;.	Q	38;26;31;31;31	ENSP00000320625:E38Q;ENSP00000440712:E26Q;ENSP00000340949:E31Q;ENSP00000376068:E31Q;ENSP00000357086:E31Q	ENSP00000320625:E38Q	E	+	1	0	FCRL6	158044630	1.000000	0.71417	0.929000	0.37066	0.056000	0.15407	4.104000	0.57790	1.763000	0.52060	0.305000	0.20034	GAA	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	G	NM_001004310		159778006	1	no_errors	ENST00000368106	ensembl	human	known	70_37	missense	SNP	0.998	C	C	159778006	G	C	159778006	3	2	58	1	0	0	0	0	1	0	0	0	5817	1291	45	1	101	1	FCRL6	1	159778006	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1108312	159778006	89472615	100	7850										
F11R	50848	genome.wustl.edu	37	chr1	160971084	160971084	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcccaactcacgattattctCaggaattctgacttcaggtt	6	11	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:160971084C>G	ENST00000368026.6	-	2	398	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'Flank|F11R_ENST00000537746.1_Missense_Mutation_p.E42Q	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	42	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E42Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CGATTATTCTCAGGAATTCTG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											76	69	71					1																	160971084		2203	4300	6503	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.124G>C	1.37:g.160971084C>G	ENSP00000357005:p.Glu42Gln		B7Z941	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E46Q	ENST00000368026.6	37	c.136	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820963	0.90873	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.68765	-0.35;-0.06;-0.35	4.11	4.11	0.48088	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000010	T	0.74801	0.3764	M	0.81682	2.555	0.42195	D	0.991749	P;D;D;D;D	0.76494	0.935;0.999;0.998;0.998;0.998	P;D;P;P;P	0.68943	0.515;0.961;0.865;0.865;0.865	T	0.76512	-0.2932	10	0.45353	T	0.12	.	11.7137	0.51639	0.0:1.0:0.0:0.0	.	46;42;42;42;42	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	Q	42;42;42;42;46	ENSP00000357005:E42Q;ENSP00000440812:E42Q;ENSP00000394809:E46Q	ENSP00000289779:E42Q	E	-	1	0	F11R	159237708	0.981000	0.34729	0.793000	0.32043	0.837000	0.47467	3.252000	0.51461	2.101000	0.63845	0.563000	0.77884	GAG	F11R	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.572	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	C	NM_016946		160971084	-1	no_errors	ENST00000436182	ensembl	human	known	70_37	missense	SNP	0.936	G	G	160971084	C	G	160971084	3	3	58	1	0	0	0	0	1	0	0	0	5350	835	29	1	811	1	F11R	1	160971084	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1193078	160971084	88279537	101	7851										
ARHGAP30	257106	genome.wustl.edu	37	chr1	161018122	161018122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcccctcaggctccatctCctctggctgaggtggctgtg	12	15	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161018122C>T	ENST00000368013.3	-	12	3009	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E686K|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E720K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	897	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E686K(1)|p.E897K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTCCATCTCCTCTGGCTGA	0.597																																																	2	Substitution - Missense(2)	cervix(2)											42	38	39					1																	161018122		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2689G>A	1.37:g.161018122C>T	ENSP00000356992:p.Glu897Lys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E897K	ENST00000368013.3	37	c.2689	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961619	0.18583	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.34275	2.96;2.9;1.37	4.7	3.75	0.43078	.	0.458599	0.18377	N	0.143066	T	0.17152	0.0412	M	0.63428	1.95	0.09310	N	1	B;B	0.30482	0.281;0.275	B;B	0.27796	0.083;0.025	T	0.08743	-1.0707	10	0.30078	T	0.28	.	12.3216	0.54987	0.0:0.8277:0.1723:0.0	.	897;686	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	K	686;897;720	ENSP00000356995:E686K;ENSP00000356992:E897K;ENSP00000356994:E720K	ENSP00000356992:E897K	E	-	1	0	ARHGAP30	159284746	0.035000	0.19736	0.313000	0.25210	0.112000	0.19704	1.494000	0.35616	0.903000	0.36546	0.455000	0.32223	GAG	ARHGAP30	-	NULL		0.597	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	C	NM_181720		161018122	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	missense	SNP	0.324	T	T	161018122	C	T	161018122	3	4	58	1	0	0	0	0	1	0	0	0	879	864	30	1	620	1	ARHGAP30	1	161018122	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	47038	161018122	88232499	102	7852										
ARHGAP30	257106	genome.wustl.edu	37	chr1	161018560	161018560	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgttcatcctcttctctctCaatttctttttccttctcat	1	13	6	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161018560C>T	ENST00000368013.3	-	12	2571	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E574K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	751	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E751K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTTCTCTCTCAATTTCTTTT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											199	202	201					1																	161018560		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2251G>A	1.37:g.161018560C>T	ENSP00000356992:p.Glu751Lys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E751K	ENST00000368013.3	37	c.2251	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	2.272	-0.366648	0.05069	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.30448	3.06;1.53	4.81	0.709	0.18150	.	0.967851	0.08452	N	0.943775	T	0.09247	0.0228	L	0.60455	1.87	0.09310	N	1	B	0.20550	0.046	B	0.15870	0.014	T	0.40403	-0.9565	10	0.08381	T	0.77	.	7.9523	0.30023	0.0:0.623:0.0:0.377	.	751	Q7Z6I6	RHG30_HUMAN	K	751;574	ENSP00000356992:E751K;ENSP00000356994:E574K	ENSP00000356992:E751K	E	-	1	0	ARHGAP30	159285184	0.011000	0.17503	0.002000	0.10522	0.086000	0.17979	1.657000	0.37366	0.439000	0.26476	0.455000	0.32223	GAG	ARHGAP30	-	NULL		0.483	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	C	NM_181720		161018560	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	missense	SNP	0.003	T	T	161018560	C	T	161018560	3	4	58	1	0	0	0	0	1	0	0	0	879	835	29	1	1058	1	ARHGAP30	1	161018560	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	438	161018560	88232061	103	7853										
USP21	27005	genome.wustl.edu	37	chr1	161133352	161133352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgatctgtggtagtgatgatGaccgagccaacctaatgtgg	13	7	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161133352G>A	ENST00000289865.8	+	7	1278	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Missense_Mutation_p.D353N|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368001.1_Missense_Mutation_p.D353N	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	353	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D353N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TAGTGATGATGACCGAGCCAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											151	123	133					1																	161133352		2203	4300	6503	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1057G>A	1.37:g.161133352G>A	ENSP00000289865:p.Asp353Asn		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D353N	ENST00000289865.8	37	c.1057	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236365	0.79800	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.02787	4.16;4.16;4.16	5.43	5.43	0.79202	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.563291	0.17770	N	0.162602	T	0.01905	0.0060	L	0.29908	0.895	0.49915	D	0.999831	B	0.23128	0.08	B	0.28709	0.093	T	0.53774	-0.8391	10	0.62326	D	0.03	.	18.0069	0.89212	0.0:0.0:1.0:0.0	.	353	Q9UK80	UBP21_HUMAN	N	353	ENSP00000356981:D353N;ENSP00000289865:D353N;ENSP00000356980:D353N	ENSP00000289865:D353N	D	+	1	0	USP21	159399976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.788000	0.62439	2.527000	0.85204	0.561000	0.74099	GAC	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.517	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	G			161133352	1	no_errors	ENST00000289865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161133352	G	A	161133352	3	1	58	1	0	0	0	0	1	0	0	0	17084	1290	45	1	1079	1	USP21	1	161133352	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	114792	161133352	88117269	104	7854										
B4GALT3	8703	genome.wustl.edu	37	chr1	161142095	161142095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctacagatgtggggggccgaGagatcttcatcccagccagg	14	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161142095G>A	ENST00000319769.5	-	7	1052	c.830C>T	c.(829-831)tCt>tTt	p.S277F	B4GALT3_ENST00000367998.1_Missense_Mutation_p.S277F|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	277					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.S277F(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGGGGCCGAGAGATCTTCAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											79	73	75					1																	161142095		2203	4300	6503	SO:0001583	missense	8703			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.830C>T	1.37:g.161142095G>A	ENSP00000320965:p.Ser277Phe		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.S277F	ENST00000319769.5	37	c.830	CCDS1222.1	1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839091	0.71373	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.33654	1.4;1.4	5.28	5.28	0.74379	.	0.354608	0.33144	N	0.005221	T	0.31104	0.0786	L	0.48260	1.515	0.38956	D	0.958447	B	0.29909	0.261	B	0.40101	0.319	T	0.15954	-1.0419	10	0.52906	T	0.07	.	17.8577	0.88771	0.0:0.0:1.0:0.0	.	277	O60512	B4GT3_HUMAN	F	277;254;277;277	ENSP00000320965:S277F;ENSP00000356977:S277F	ENSP00000320965:S277F	S	-	2	0	B4GALT3	159408719	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	5.903000	0.69877	2.746000	0.94184	0.655000	0.94253	TCT	B4GALT3	-	pfam_Galactosyl_T_2_met		0.507	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	G	NM_003779		161142095	-1	no_errors	ENST00000319769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161142095	G	A	161142095	3	1	58	1	0	0	0	0	1	0	0	0	1273	942	33	1	359	1	B4GALT3	1	161142095	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8743	161142095	88108526	105	7855										
C1orf226	400793	genome.wustl.edu	37	chr1	162353431	162353431	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggcacggacctccagcctCgacaatgagggccctcaccc	10	18	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:162353431C>G	ENST00000458626.2	+	2	949	c.777C>G	c.(775-777)ctC>ctG	p.L259L	C1orf226_ENST00000426197.2_Silent_p.L302L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	259								p.L302L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCCAGCCTCGACAATGAGG	0.587																																																	2	Substitution - coding silent(2)	cervix(2)											20	23	22					1																	162353431		2052	4188	6240	SO:0001819	synonymous_variant	400793			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.777C>G	1.37:g.162353431C>G			B4DF31	Silent	SNP	NULL	p.L302	ENST00000458626.2	37	c.906	CCDS53422.1	1																																																																																			C1orf226	-	NULL		0.587	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	C	NM_001085375		162353431	1	no_errors	ENST00000426197	ensembl	human	known	70_37	silent	SNP	0.033	G	G	162353431	C	G	162353431	2	3	58	1	0	0	0	0	0	0	0	1	2037	871	31	1		1	C1orf226	1	162353431	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1211336	162353431	86897190	106	7856										
UAP1	6675	genome.wustl.edu	37	chr1	162546701	162546701	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtaagacactttttcagattCaagcagagcgtatcctgaag	9	8	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:162546701C>T	ENST00000367925.1	+	2	447	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	UAP1_ENST00000271469.3_Nonsense_Mutation_p.Q139*|UAP1_ENST00000367926.4_Nonsense_Mutation_p.Q139*|UAP1_ENST00000367924.1_Nonsense_Mutation_p.Q139*			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	139					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.Q139*(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTTCAGATTCAAGCAGAGCG	0.443																																																	1	Substitution - Nonsense(1)	cervix(1)											120	109	112					1																	162546701		2203	4300	6503	SO:0001587	stop_gained	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.415C>T	1.37:g.162546701C>T	ENSP00000356902:p.Gln139*		B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Nonsense_Mutation	SNP	pfam_UDPGP_trans	p.Q139*	ENST00000367925.1	37	c.415		1	.	.	.	.	.	.	.	.	.	.	C	35	5.584672	0.96578	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.1015	17.5095	0.87756	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000271469:Q139X	Q	+	1	0	UAP1	160813325	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.519000	0.81809	2.550000	0.86006	0.591000	0.81541	CAA	UAP1	-	pfam_UDPGP_trans		0.443	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	C	NM_003115		162546701	1	no_errors	ENST00000271469	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	162546701	C	T	162546701	4	4	58	1	0	0	0	0	0	1	0	0	16856	827	29	1	421	1	UAP1	1	162546701	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	193270	162546701	86703920	107	7857										
UAP1	6675	genome.wustl.edu	37	chr1	162560263	162560263	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaatgcagggggccatttCatagatgaaaatggctctcg	11	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:162560263C>T	ENST00000367925.1	+	7	1352	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	UAP1_ENST00000271469.3_Silent_p.F440F|UAP1_ENST00000367926.4_Silent_p.F440F|UAP1_ENST00000367924.1_Silent_p.F440F|RP11-359K18.4_ENST00000609669.1_RNA			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	440					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.F440F(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGGGCCATTTCATAGATGAAA	0.448																																																	1	Substitution - coding silent(1)	cervix(1)											107	100	102					1																	162560263		2203	4300	6503	SO:0001819	synonymous_variant	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1320C>T	1.37:g.162560263C>T			B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	pfam_UDPGP_trans	p.F440	ENST00000367925.1	37	c.1320		1																																																																																			UAP1	-	pfam_UDPGP_trans		0.448	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	C	NM_003115		162560263	1	no_errors	ENST00000271469	ensembl	human	known	70_37	silent	SNP	1.000	T	T	162560263	C	T	162560263	2	4	58	1	0	0	0	0	0	0	0	1	16856	825	29	1		1	UAP1	1	162560263	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	13562	162560263	86690358	108	7858										
LMX1A	4009	genome.wustl.edu	37	chr1	165173199	165173199	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actgcagaggcccagcttctGaggttgctaggaaacaatca	11	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:165173199G>C	ENST00000342310.3	-	9	1449	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*	LMX1A_ENST00000294816.2_Nonsense_Mutation_p.S356*|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.S356*|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	356					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S356*(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCAGCTTCTGAGGTTGCTAG	0.507																																																	1	Substitution - Nonsense(1)	cervix(1)											109	107	108					1																	165173199		2203	4300	6503	SO:0001587	stop_gained	4009			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1067C>G	1.37:g.165173199G>C	ENSP00000340226:p.Ser356*		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.S356*	ENST00000342310.3	37	c.1067	CCDS1247.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.355120	0.97498	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	.	.	.	5.14	5.14	0.70334	.	0.367300	0.28958	N	0.013585	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.3903	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000294816:S356X	S	-	2	0	LMX1A	163439823	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	9.006000	0.93592	2.666000	0.90696	0.561000	0.74099	TCA	LMX1A	-	NULL		0.507	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	HGNC	protein_coding	OTTHUMT00000083668.2	G	NM_177398		165173199	-1	no_errors	ENST00000294816	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	165173199	G	C	165173199	4	2	58	1	0	0	0	0	0	1	0	0	8882	1294	45	1	85	1	LMX1A	1	165173199	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2612936	165173199	84077422	109	7859										
LRRC52	440699	genome.wustl.edu	37	chr1	165514074	165514074	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctactctggagaccctgtttCtgagtggaaacccctggaag	11	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:165514074C>T	ENST00000294818.1	+	1	831	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	181					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L181L(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GACCCTGTTTCTGAGTGGAAA	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											141	146	144					1																	165514074		2203	4300	6503	SO:0001819	synonymous_variant	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.541C>T	1.37:g.165514074C>T			A2RUN7|Q5T9K5	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L181	ENST00000294818.1	37	c.541	CCDS30930.1	1																																																																																			LRRC52	-	NULL		0.522	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC52	HGNC	protein_coding	OTTHUMT00000083793.1	C	NM_001005214		165514074	1	no_errors	ENST00000294818	ensembl	human	known	70_37	silent	SNP	0.999	T	T	165514074	C	T	165514074	2	4	58	1	0	0	0	0	0	0	0	1	9033	912	32	1		1	LRRC52	1	165514074	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	340875	165514074	83736547	110	7860										
DUSP27	92235	genome.wustl.edu	37	chr1	167097844	167097844	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagaaaaggagggaggactGagctggggaaaatctgagaa	17	4	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:167097844G>C	ENST00000361200.2	+	6	3642	c.3476G>C	c.(3475-3477)tGa>tCa	p.*1159S	DUSP27_ENST00000271385.5_Nonstop_Mutation_p.*1159S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonstop_Mutation_p.*1159S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	0					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.*1159S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGGAGGACTGAGCTGGGGAA	0.522																																																	1	Nonstop extension(1)	cervix(1)											28	29	29					1																	167097844		2203	4300	6503	SO:0001578	stop_lost	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3476G>C	1.37:g.167097844G>C	ENSP00000354483:p.*1159Serext*43		A0AUM4|Q9C074	Nonstop_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.*1159S	ENST00000361200.2	37	c.3476	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	9.766	1.171283	0.21621	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.49	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7328	0.18049	0.1906:0.0:0.6138:0.1956	.	.	.	.	S	1159	.	.	X	+	2	2	DUSP27	165364468	0.769000	0.28531	0.531000	0.27976	0.309000	0.27889	0.715000	0.25822	0.551000	0.29008	0.549000	0.68633	TGA	DUSP27	-	NULL		0.522	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167097844	1	no_errors	ENST00000271385	ensembl	human	known	70_37	nonstop	SNP	0.401	C	C	167097844	G	C	167097844	4	2	58	1	0	0	0	0	0	0	0	0	4834	1285	45	1	3494	1	DUSP27	1	167097844	Nonstop_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1583770	167097844	82152777	111	7861										
RCSD1	92241	genome.wustl.edu	37	chr1	167666535	167666535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtccagtgagggagcagcggGagagggagtgagaaccctgg	20	7	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:167666535G>A	ENST00000367854.3	+	6	1005	c.674G>A	c.(673-675)gGa>gAa	p.G225E	RCSD1_ENST00000537350.1_Missense_Mutation_p.G195E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	225					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.G225E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGAGCAGCGGGAGAGGGAGTG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											63	65	65					1																	167666535		2203	4300	6503	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.674G>A	1.37:g.167666535G>A	ENSP00000356828:p.Gly225Glu		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	pfam_RCSD	p.G225E	ENST00000367854.3	37	c.674	CCDS1263.1	1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319924	0.23994	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.48201	0.85;0.82	5.09	0.757	0.18427	.	0.666605	0.13118	N	0.412383	T	0.10165	0.0249	L	0.36672	1.1	0.24389	N	0.994754	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.002	T	0.26780	-1.0093	9	0.02654	T	1	-0.0316	4.6957	0.12802	0.3203:0.3052:0.3746:0.0	.	195;225	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	E	225;195	ENSP00000356828:G225E;ENSP00000439409:G195E	ENSP00000356828:G225E	G	+	2	0	RCSD1	165933159	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.215000	0.17562	0.120000	0.18254	0.585000	0.79938	GGA	RCSD1	-	NULL		0.592	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	G	NM_052862		167666535	1	no_errors	ENST00000367854	ensembl	human	known	70_37	missense	SNP	0.000	A	A	167666535	G	A	167666535	3	1	58	1	0	0	0	0	1	0	0	0	13215	1174	41	1	696	1	RCSD1	1	167666535	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	568691	167666535	81584086	112	7862										
TBX19	9095	genome.wustl.edu	37	chr1	168274320	168274320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attaccagtatgccgctcctCtgcctctgcctgctccccac	6	19	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:168274320C>G	ENST00000367821.3	+	6	853	c.802C>G	c.(802-804)Ctg>Gtg	p.L268V		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	268					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L268V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGCCGCTCCTCTGCCTCTGCC	0.542																																																	1	Substitution - Missense(1)	cervix(1)											157	145	149					1																	168274320		2203	4300	6503	SO:0001583	missense	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.802C>G	1.37:g.168274320C>G	ENSP00000356795:p.Leu268Val		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.L268V	ENST00000367821.3	37	c.802	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.20|14.20	2.463829|2.463829	0.43736|0.43736	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821|ENST00000441464	D|.	0.95205|.	-3.64|.	5.89|5.89	-7.29|-7.29	0.01451|0.01451	.|.	0.097964|.	0.43260|.	D|.	0.000586|.	T|T	0.52008|0.52008	0.1708|0.1708	M|M	0.77313|0.77313	2.365|2.365	0.31732|.	N|.	0.636871|.	P|.	0.46987|.	0.888|.	B|.	0.34536|.	0.185|.	T|T	0.63404|0.63404	-0.6645|-0.6645	9|4	0.23891|.	T|.	0.37|.	.|.	15.6662|15.6662	0.77230|0.77230	0.0:0.2561:0.0:0.7439|0.0:0.2561:0.0:0.7439	.|.	268|.	O60806|.	TBX19_HUMAN|.	V|C	268|100	ENSP00000356795:L268V|.	ENSP00000356795:L268V|.	L|S	+|+	1|2	2|0	TBX19|TBX19	166540944|166540944	0.020000|0.020000	0.18652|0.18652	0.099000|0.099000	0.21106|0.21106	0.369000|0.369000	0.29798|0.29798	0.050000|0.050000	0.14120|0.14120	-1.382000|-1.382000	0.02109|0.02109	-0.291000|-0.291000	0.09656|0.09656	CTG|TCT	TBX19	-	NULL		0.542	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	C	NM_005149		168274320	1	no_errors	ENST00000367821	ensembl	human	known	70_37	missense	SNP	0.063	G	G	168274320	C	G	168274320	3	3	58	1	0	0	0	0	1	0	0	0	15684	912	32	1	824	1	TBX19	1	168274320	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	607785	168274320	80976301	113	7863										
C1orf112	55732	genome.wustl.edu	37	chr1	169792605	169792605	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgcaccaactgtatcttcaGatacacaggtaagaagaatg	8	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:169792605G>C	ENST00000286031.6	+	10	1540	c.840G>C	c.(838-840)caG>caC	p.Q280H	C1orf112_ENST00000413811.2_Missense_Mutation_p.Q251H|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q280H|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q338H|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	280								p.Q280H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTATCTTCAGATACACAGGT	0.333																																																	1	Substitution - Missense(1)	cervix(1)											125	125	125					1																	169792605		2203	4298	6501	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.840G>C	1.37:g.169792605G>C	ENSP00000286031:p.Gln280His		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.Q280H	ENST00000286031.6	37	c.840	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012771	0.54468	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.57	3.68	0.42216	.	0.051087	0.85682	D	0.000000	T	0.51193	0.1660	M	0.77616	2.38	0.43091	D	0.994766	D;P	0.76494	0.999;0.865	D;P	0.80764	0.994;0.465	T	0.57136	-0.7863	10	0.72032	D	0.01	-4.0849	9.2373	0.37475	0.0802:0.147:0.7727:0.0	.	251;280	B4E0A9;Q9NSG2	.;CA112_HUMAN	H	251;280;338;280	ENSP00000389257:Q251H;ENSP00000352276:Q280H;ENSP00000415583:Q338H;ENSP00000286031:Q280H	ENSP00000286031:Q280H	Q	+	3	2	C1orf112	168059229	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.822000	0.48073	0.705000	0.31890	-0.175000	0.13238	CAG	C1orf112	-	NULL		0.333	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	G	NM_018186		169792605	1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	1.000	C	C	169792605	G	C	169792605	3	2	58	1	0	0	0	0	1	0	0	0	1990	933	33	1	870	1	C1orf112	1	169792605	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1518285	169792605	79458016	114	7864										
FASLG	356	genome.wustl.edu	37	chr1	172635076	172635076	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaatcttaccagtgctgatCatttatatgtcaacgtatct	5	9	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:172635076C>T	ENST00000367721.2	+	4	950	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	256					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.H256Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAGTGCTGATCATTTATATGT	0.473																																					Ovarian(28;486 876 30334 44033)												1	Substitution - Missense(1)	cervix(1)											88	86	87					1																	172635076		2203	4300	6503	SO:0001583	missense	356			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.766C>T	1.37:g.172635076C>T	ENSP00000356694:p.His256Tyr		Q9BZP9	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C	p.H256Y	ENST00000367721.2	37	c.766	CCDS1304.1	1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717052	0.30413	.	.	ENSG00000117560	ENST00000367721	D	0.94537	-3.45	5.34	2.04	0.26737	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.784863	0.11879	N	0.520684	D	0.83170	0.5196	L	0.40543	1.245	0.09310	N	1	P	0.42357	0.777	B	0.38880	0.284	T	0.73591	-0.3934	10	0.33141	T	0.24	-1.0847	7.8258	0.29313	0.3845:0.5295:0.0:0.086	.	256	P48023	TNFL6_HUMAN	Y	256	ENSP00000356694:H256Y	ENSP00000356694:H256Y	H	+	1	0	FASLG	170901699	0.423000	0.25482	0.737000	0.30932	0.790000	0.44656	1.126000	0.31344	0.630000	0.30394	0.650000	0.86243	CAT	FASLG	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C		0.473	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASLG	HGNC	protein_coding	OTTHUMT00000084276.1	C			172635076	1	no_errors	ENST00000367721	ensembl	human	known	70_37	missense	SNP	0.030	T	T	172635076	C	T	172635076	3	4	58	1	0	0	0	0	1	0	0	0	5700	826	29	1	780	1	FASLG	1	172635076	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2842471	172635076	76615545	115	7865										
PAPPA2	60676	genome.wustl.edu	37	chr1	176525786	176525786	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtgagccttgttcccccaGacctgactgaaaatccagca	8	14	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:176525786G>C	ENST00000367662.3	+	2	1492	c.328G>C	c.(328-330)Gac>Cac	p.D110H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D110H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	110					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D110H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTTCCCCCAGACCTGACTGA	0.557																																																	2	Substitution - Missense(2)	cervix(2)											116	112	113					1																	176525786		2021	4173	6194	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.328G>C	1.37:g.176525786G>C	ENSP00000356634:p.Asp110His		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D110H	ENST00000367662.3	37	c.328	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471390	0.26423	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.40476	4.26;1.03	4.0	-0.645	0.11475	.	0.967268	0.08416	N	0.949120	T	0.35566	0.0936	L	0.60455	1.87	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.12837	0.003;0.008	T	0.43081	-0.9413	10	0.87932	D	0	-8.9159	4.3004	0.10922	0.2269:0.3684:0.4047:0.0	.	110;110	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	110	ENSP00000356634:D110H;ENSP00000356633:D110H	ENSP00000356633:D110H	D	+	1	0	PAPPA2	174792409	0.018000	0.18449	0.050000	0.19076	0.076000	0.17211	0.591000	0.23969	0.153000	0.19213	0.561000	0.74099	GAC	PAPPA2	-	NULL		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176525786	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.001	C	C	176525786	G	C	176525786	3	2	58	1	0	0	0	0	1	0	0	0	11457	942	33	1	330	1	PAPPA2	1	176525786	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3890710	176525786	72724835	116	7866										
PAPPA2	60676	genome.wustl.edu	37	chr1	176664908	176664908	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtgtggcgcttgcactgaaGatgggacctttcgtcagtat	13	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:176664908G>A	ENST00000367662.3	+	7	3823	c.2659G>A	c.(2659-2661)Gat>Aat	p.D887N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	887					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D887N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGCACTGAAGATGGGACCTT	0.542																																																	1	Substitution - Missense(1)	cervix(1)											91	93	92					1																	176664908		2086	4230	6316	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2659G>A	1.37:g.176664908G>A	ENSP00000356634:p.Asp887Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D887N	ENST00000367662.3	37	c.2659	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011575	0.75046	.	.	ENSG00000116183	ENST00000367662	T	0.01854	4.6	5.51	5.51	0.81932	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.04497	0.0123	L	0.48362	1.52	0.80722	D	1	P	0.36027	0.533	B	0.39379	0.298	T	0.54938	-0.8218	10	0.33940	T	0.23	-14.2351	19.0259	0.92931	0.0:0.0:1.0:0.0	.	887	Q9BXP8	PAPP2_HUMAN	N	887	ENSP00000356634:D887N	ENSP00000356634:D887N	D	+	1	0	PAPPA2	174931531	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.809000	0.86057	2.595000	0.87683	0.563000	0.77884	GAT	PAPPA2	-	superfamily_Fibronectin_type3		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176664908	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176664908	G	A	176664908	3	1	58	1	0	0	0	0	1	0	0	0	11457	942	33	1	2734	1	PAPPA2	1	176664908	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	139122	176664908	72585713	117	7867										
PAPPA2	60676	genome.wustl.edu	37	chr1	176671814	176671814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggagaactgggagaagcttCgcctcctctgaaccacattc	10	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:176671814C>T	ENST00000367662.3	+	9	4472	c.3308C>T	c.(3307-3309)tCg>tTg	p.S1103L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1103					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1103L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGAAGCTTCGCCTCCTCTG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											97	95	96					1																	176671814		1968	4152	6120	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3308C>T	1.37:g.176671814C>T	ENSP00000356634:p.Ser1103Leu		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S1103L	ENST00000367662.3	37	c.3308	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.094400	0.94149	.	.	ENSG00000116183	ENST00000367662	T	0.54279	0.58	5.26	5.26	0.73747	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80065	-0.1538	10	0.87932	D	0	-11.7063	18.4543	0.90714	0.0:1.0:0.0:0.0	.	1103	Q9BXP8	PAPP2_HUMAN	L	1103	ENSP00000356634:S1103L	ENSP00000356634:S1103L	S	+	2	0	PAPPA2	174938437	1.000000	0.71417	0.987000	0.45799	0.927000	0.56198	7.095000	0.76952	2.444000	0.82710	0.563000	0.77884	TCG	PAPPA2	-	superfamily_Fibronectin_type3		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	C			176671814	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176671814	C	T	176671814	3	4	58	1	0	0	0	0	1	0	0	0	11457	893	31	1	3391	1	PAPPA2	1	176671814	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6906	176671814	72578807	118	7868										
TOR1AIP2	163590	genome.wustl.edu	37	chr1	179820219	179820219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttctttacccagattttctGaagggaggtgatgccctttt	10	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:179820219G>A	ENST00000367612.3	-	4	701	c.314C>T	c.(313-315)tCa>tTa	p.S105L	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S105L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.S105L(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CAGATTTTCTGAAGGGAGGTG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											85	75	78					1																	179820219		2203	4300	6503	SO:0001583	missense	163590				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.314C>T	1.37:g.179820219G>A	ENSP00000356584:p.Ser105Leu		Q05BU2	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.S105L	ENST00000367612.3	37	c.314	CCDS1334.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267479	0.59540	.	.	ENSG00000169905	ENST00000367612	T	0.23552	1.9	5.91	4.03	0.46877	.	1.412710	0.04852	N	0.442453	T	0.27832	0.0685	M	0.63428	1.95	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.42515	-0.9447	10	0.11182	T	0.66	0.0424	8.2948	0.31980	0.0827:0.1562:0.7611:0.0	.	105	Q8NFQ8	TOIP2_HUMAN	L	105	ENSP00000356584:S105L	ENSP00000356584:S105L	S	-	2	0	TOR1AIP2	178086842	0.419000	0.25449	0.002000	0.10522	0.465000	0.32709	1.788000	0.38714	0.817000	0.34445	0.655000	0.94253	TCA	TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C		0.483	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	G	NM_145034		179820219	-1	no_errors	ENST00000367612	ensembl	human	known	70_37	missense	SNP	0.055	A	A	179820219	G	A	179820219	3	1	58	1	0	0	0	0	1	0	0	0	16404	1294	45	1	1110	1	TOR1AIP2	1	179820219	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3148405	179820219	69430402	119	7869										
FAM129A	116496	genome.wustl.edu	37	chr1	184764121	184764121	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attgtccctttcactcctctGagggcagctctgggaaactc	9	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:184764121G>A	ENST00000367511.3	-	14	2970	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	926					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S926L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACTCCTCTGAGGGCAGCTC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											111	113	112					1																	184764121		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2777C>T	1.37:g.184764121G>A	ENSP00000356481:p.Ser926Leu		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.S926L	ENST00000367511.3	37	c.2777	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154013	0.78114	.	.	ENSG00000135842	ENST00000367511	T	0.13901	2.55	4.82	2.94	0.34122	.	0.954192	0.08569	N	0.926408	T	0.11707	0.0285	L	0.29908	0.895	0.09310	N	0.999999	B	0.13594	0.008	B	0.11329	0.006	T	0.32348	-0.9910	10	0.66056	D	0.02	9.4646	8.2881	0.31941	0.1885:0.0:0.8115:0.0	.	926	Q9BZQ8	NIBAN_HUMAN	L	926	ENSP00000356481:S926L	ENSP00000356481:S926L	S	-	2	0	FAM129A	183030744	0.088000	0.21588	0.096000	0.21009	0.599000	0.36880	1.209000	0.32357	0.456000	0.26937	0.462000	0.41574	TCA	FAM129A	-	NULL		0.502	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	G			184764121	-1	no_errors	ENST00000367511	ensembl	human	known	70_37	missense	SNP	0.196	A	A	184764121	G	A	184764121	3	1	58	1	0	0	0	0	1	0	0	0	5451	1294	45	1	13	1	FAM129A	1	184764121	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4943902	184764121	64486500	120	7870										
HMCN1	83872	genome.wustl.edu	37	chr1	185984542	185984542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaatgttgctggaactgctGaaaaatcattccatgtggat	9	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:185984542G>A	ENST00000271588.4	+	31	5111	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1628K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1628	Ig-like C2-type 13.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E1628K(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAACTGCTGAAAAATCATT	0.348																																																	1	Substitution - Missense(1)	cervix(1)											106	107	107					1																	185984542		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4882G>A	1.37:g.185984542G>A	ENSP00000271588:p.Glu1628Lys		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E1628K	ENST00000271588.4	37	c.4882	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401150	0.83120	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68903	-0.36;-0.36	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	L	0.43152	1.355	0.58432	D	0.999996	D	0.69078	0.997	D	0.80764	0.994	T	0.70876	-0.4753	10	0.25106	T	0.35	.	19.7622	0.96325	0.0:0.0:1.0:0.0	.	1628	Q96RW7	HMCN1_HUMAN	K	1628	ENSP00000271588:E1628K;ENSP00000356462:E1628K	ENSP00000271588:E1628K	E	+	1	0	HMCN1	184251165	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.751000	0.68720	2.732000	0.93576	0.650000	0.86243	GAA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		185984542	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	185984542	G	A	185984542	3	1	58	1	0	0	0	0	1	0	0	0	7240	1291	45	1	5004	1	HMCN1	1	185984542	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1220421	185984542	63266079	121	7871										
TPR	7175	genome.wustl.edu	37	chr1	186302371	186302371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatctgaggatgactctgttGagtgggttgcacaaaagctg	13	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:186302371G>C	ENST00000367478.4	-	37	5634	c.5338C>G	c.(5338-5340)Caa>Gaa	p.Q1780E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1780					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q1780E(1)|p.Q1781E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCTGTTGAGTGGGTTGC	0.443			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Missense(2)	cervix(2)											142	134	137					1																	186302371		1909	4119	6028	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5338C>G	1.37:g.186302371G>C	ENSP00000356448:p.Gln1780Glu		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q1780E	ENST00000367478.4	37	c.5338	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601061	0.87055	.	.	ENSG00000047410	ENST00000367478	T	0.26957	1.7	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	M	0.74258	2.255	0.80722	D	1	D	0.54207	0.965	P	0.61201	0.885	T	0.36939	-0.9727	10	0.20046	T	0.44	.	18.5873	0.91194	0.0:0.0:1.0:0.0	.	1780	P12270	TPR_HUMAN	E	1780	ENSP00000356448:Q1780E	ENSP00000356448:Q1780E	Q	-	1	0	TPR	184568994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.012000	0.93624	2.403000	0.81681	0.644000	0.83932	CAA	TPR	-	NULL		0.443	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186302371	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	C	C	186302371	G	C	186302371	3	2	58	1	0	0	0	0	1	0	0	0	16447	1299	45	1	1813	1	TPR	1	186302371	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	317829	186302371	62948250	122	7872										
CDC73	79577	genome.wustl.edu	37	chr1	193121523	193121523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcgtagaaacggaaggcttCaaaattgacactatgggaac	10	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:193121523C>G	ENST00000367435.3	+	10	1105	c.921C>G	c.(919-921)ttC>ttG	p.F307L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	307	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.F307L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CGGAAGGCTTCAAAATTGACA	0.328																																																	1	Substitution - Missense(1)	cervix(1)											128	114	119					1																	193121523		2203	4300	6503	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.921C>G	1.37:g.193121523C>G	ENSP00000356405:p.Phe307Leu		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.F307L	ENST00000367435.3	37	c.921	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023690	0.75390	.	.	ENSG00000134371	ENST00000367435	T	0.61627	0.09	5.27	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69304	-0.5180	10	0.14252	T	0.57	-10.7415	6.8938	0.24245	0.0:0.7528:0.0:0.2472	.	307	Q6P1J9	CDC73_HUMAN	L	307	ENSP00000356405:F307L	ENSP00000356405:F307L	F	+	3	2	CDC73	191388146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.315000	0.33608	1.044000	0.40200	0.585000	0.79938	TTC	CDC73	-	pfam_RNA_pol_access_fac_Cdc73		0.328	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	C	NM_024529		193121523	1	no_errors	ENST00000367435	ensembl	human	known	70_37	missense	SNP	1.000	G	G	193121523	C	G	193121523	3	3	58	1	0	0	0	0	1	0	0	0	3090	825	29	1	959	1	CDC73	1	193121523	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6819152	193121523	56129098	123	7873										
F13B	2165	genome.wustl.edu	37	chr1	197026206	197026206	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatctcattcgatccatggaGaaggtagccgcttttacatg	9	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:197026206G>C	ENST00000367412.1	-	7	1151	c.1108C>G	c.(1108-1110)Ctc>Gtc	p.L370V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	370	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.L370V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GATCCATGGAGAAGGTAGCCG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											132	111	118					1																	197026206		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1108C>G	1.37:g.197026206G>C	ENSP00000356382:p.Leu370Val		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L370V	ENST00000367412.1	37	c.1108	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262990	0.23051	.	.	ENSG00000143278	ENST00000367412	T	0.69926	-0.44	5.99	0.19	0.15125	Complement control module (2);Sushi/SCR/CCP (3);	0.301070	0.18184	N	0.149047	T	0.72779	0.3503	M	0.86028	2.79	0.09310	N	0.999999	B	0.31790	0.34	B	0.39503	0.301	T	0.70988	-0.4722	10	0.62326	D	0.03	.	14.899	0.70664	0.0:0.0:0.3563:0.6437	.	370	P05160	F13B_HUMAN	V	370	ENSP00000356382:L370V	ENSP00000356382:L370V	L	-	1	0	F13B	195292829	0.711000	0.27906	0.277000	0.24703	0.014000	0.08584	1.287000	0.33284	0.383000	0.24910	0.650000	0.86243	CTC	F13B	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.388	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	G	NM_001994		197026206	-1	no_errors	ENST00000367412	ensembl	human	known	70_37	missense	SNP	0.022	C	C	197026206	G	C	197026206	3	2	58	1	0	0	0	0	1	0	0	0	5353	942	33	1	901	1	F13B	1	197026206	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3904683	197026206	52224415	124	7874										
CRB1	23418	genome.wustl.edu	37	chr1	197396583	197396583	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctctattttgacattgaaGagtatgtggcaggcagattt	10	6	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:197396583G>C	ENST00000367400.3	+	7	2263		c.e7-1		CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGACATTGAAGAGTATGTGGC	0.413																																																	2	Unknown(2)	cervix(1)|lung(1)											59	55	56					1																	197396583		2203	4300	6503	SO:0001630	splice_region_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2129-1G>C	1.37:g.197396583G>C			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	-	e7-1	ENST00000367400.3	37	c.2129-1	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815261	0.32053	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195663206	1.000000	0.71417	0.658000	0.29665	0.069000	0.16628	9.043000	0.93799	2.701000	0.92244	0.650000	0.86243	.	CRB1	-	-		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	G	NM_201253	Intron	197396583	1	no_errors	ENST00000367400	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	197396583	G	C	197396583	5	2	58	1	0	0	0	0	0	0	1	0	3853	956	33	1	2154	1	CRB1	1	197396583	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	370377	197396583	51854038	125	7875										
NR5A2	2494	genome.wustl.edu	37	chr1	200012937	200012937	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggtgaattactcctatgatGaagatctggaagagctttgt	11	5	1	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:200012937G>A	ENST00000367362.3	+	3	484	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	NR5A2_ENST00000236914.3_Missense_Mutation_p.E34K|NR5A2_ENST00000544748.1_Missense_Mutation_p.E8K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	80					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E80K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCCTATGATGAAGATCTGGA	0.388																																					Melanoma(179;1138 2773 15678 26136)												1	Substitution - Missense(1)	cervix(1)											112	106	108					1																	200012937		2203	4300	6503	SO:0001583	missense	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.238G>A	1.37:g.200012937G>A	ENSP00000356331:p.Glu80Lys		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E80K	ENST00000367362.3	37	c.238	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623953	0.87560	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.94330	-3.39;-3.4;-3.4	5.91	5.91	0.95273	Zinc finger, NHR/GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	L	0.27053	0.805	0.80722	D	1	B;B	0.27068	0.006;0.167	B;B	0.29598	0.019;0.104	D	0.85025	0.0914	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	34;80	F1D8R9;O00482	.;NR5A2_HUMAN	K	80;34;8	ENSP00000356331:E80K;ENSP00000236914:E34K;ENSP00000439116:E8K	.	E	+	1	0	NR5A2	198279560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.343000	0.97047	2.814000	0.96858	0.650000	0.86243	GAA	NR5A2	-	pirsf_Steroidogenic_factor_1		0.388	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	G			200012937	1	no_errors	ENST00000367362	ensembl	human	known	70_37	missense	SNP	1.000	A	A	200012937	G	A	200012937	3	1	58	1	0	0	0	0	1	0	0	0	10660	1291	45	1	248	1	NR5A2	1	200012937	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2616354	200012937	49237684	126	7876										
PLXNA2	5362	genome.wustl.edu	37	chr1	208383784	208383784	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggttgatgtccagtccacaGaagttatcatcgatggggac	12	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:208383784G>A	ENST00000367033.3	-	3	1969	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	404	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.F404F(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCAGTCCACAGAAGTTATCAT	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											66	57	60					1																	208383784		2203	4300	6503	SO:0001819	synonymous_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1212C>T	1.37:g.208383784G>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F404	ENST00000367033.3	37	c.1212	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	G	NM_025179		208383784	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	silent	SNP	1.000	A	A	208383784	G	A	208383784	2	1	58	1	0	0	0	0	0	0	0	1	12144	933	33	1		1	PLXNA2	1	208383784	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8370847	208383784	40866837	127	7877										
IRF6	3664	genome.wustl.edu	37	chr1	209969858	209969858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttagctgggtcagggtcatCcaccccttcctggtacttcc	9	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:209969858C>T	ENST00000367021.3	-	4	386	c.214G>A	c.(214-216)Gat>Aat	p.D72N	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	72					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D72N(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCAGGGTCATCCACCCCTTCC	0.532										HNSCC(57;0.16)																																							1	Substitution - Missense(1)	cervix(1)											99	74	83					1																	209969858		2203	4300	6503	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.214G>A	1.37:g.209969858C>T	ENSP00000355988:p.Asp72Asn		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.D72N	ENST00000367021.3	37	c.214	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.480779	0.96307	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97976	-4.64;-4.64	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99316	1.0905	9	.	.	.	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	72	O14896	IRF6_HUMAN	N	72	ENSP00000355988:D72N;ENSP00000403855:D72N	.	D	-	1	0	IRF6	208036481	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.311000	0.78958	2.652000	0.90054	0.655000	0.94253	GAT	IRF6	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom		0.532	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	C	NM_006147		209969858	-1	no_errors	ENST00000367021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	209969858	C	T	209969858	3	4	58	1	0	0	0	0	1	0	0	0	7854	855	30	1	1213	1	IRF6	1	209969858	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1586074	209969858	39280763	128	7878										
C1orf107	27042	genome.wustl.edu	37	chr1	210015736	210015736	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactgctatttggggcccttCaggatgcccagatcaactca	9	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:210015736C>T	ENST00000491415.2	+	9	1669	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	538					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q538*(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TGGGGCCCTTCAGGATGCCCA	0.498																																																	1	Substitution - Nonsense(1)	cervix(1)											133	131	132					1																	210015736		2203	4300	6503	SO:0001587	stop_gained	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1612C>T	1.37:g.210015736C>T	ENSP00000419005:p.Gln538*		O75992|Q4VY00|Q63HL9	Nonsense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.Q538*	ENST00000491415.2	37	c.1612	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.852549	0.98525	.	.	ENSG00000117597	ENST00000491415	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-27.6907	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000419005:Q538X	Q	+	1	0	DIEXF	208082359	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.642000	0.83385	2.941000	0.99782	0.655000	0.94253	CAG	DIEXF	-	pfam_Digest_organ_expansion_fac-prd		0.498	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	C	NM_014388		210015736	1	no_errors	ENST00000491415	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	210015736	C	T	210015736	4	4	58	1	0	0	0	0	0	1	0	0	1986	827	29	1	1646	1	C1orf107	1	210015736	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	45878	210015736	39234885	129	7879										
USH2A	7399	genome.wustl.edu	37	chr1	216256809	216256809	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcacatacagcaagaaaatCaggtccatctttgttataaa	5	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:216256809C>G	ENST00000307340.3	-	26	5673	c.5287G>C	c.(5287-5289)Gat>Cat	p.D1763H	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.D1763H|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1763	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D1763H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAGAAAATCAGGTCCATCT	0.284										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	cervix(1)											86	90	89					1																	216256809		2201	4299	6500	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5287G>C	1.37:g.216256809C>G	ENSP00000305941:p.Asp1763His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D1763H	ENST00000307340.3	37	c.5287	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144747	0.77888	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82167	-1.58;-1.58	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.46442	D	0.000283	D	0.92156	0.7513	M	0.87381	2.88	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.93599	0.6928	10	0.66056	D	0.02	.	17.6112	0.88054	0.0:1.0:0.0:0.0	.	1763	O75445	USH2A_HUMAN	H	1763	ENSP00000305941:D1763H;ENSP00000355910:D1763H	ENSP00000305941:D1763H	D	-	1	0	USH2A	214323432	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.694000	0.74587	2.233000	0.73108	0.655000	0.94253	GAT	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.284	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216256809	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	216256809	C	G	216256809	3	3	58	1	0	0	0	0	1	0	0	0	17067	826	29	1	10509	1	USH2A	1	216256809	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6241073	216256809	32993812	130	7880										
SUSD4	55061	genome.wustl.edu	37	chr1	223396808	223396808	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccggggtatgctggggggctCtggtcgtccacgggtaaggg	20	9	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:223396808C>G	ENST00000343846.3	-	7	1860	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	SUSD4_ENST00000494793.2_Missense_Mutation_p.Q409H|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.Q249H|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q409H|SUSD4_ENST00000484758.2_Missense_Mutation_p.Q340H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	409						integral component of membrane (GO:0016021)		p.Q409H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTGGGGGGCTCTGGTCGTCCA	0.642																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											24	29	27					1																	223396808		2056	4163	6219	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1227G>C	1.37:g.223396808C>G	ENSP00000344219:p.Gln409His		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Splice_Site	SNP	-	NULL	ENST00000343846.3	37	c.NULL	CCDS41471.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911543|3.911543	0.72983|0.72983	.|.	.|.	ENSG00000143502|ENSG00000143502	ENST00000271787|ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	.|T;T;T	.|0.35421	.|1.31;1.31;1.41	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.47455	.|D	.|0.000233	.|T	.|0.43897	.|0.1268	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.50440	.|0.641	.|T	.|0.41360	.|-0.9513	.|10	.|0.72032	.|D	.|0.01	.|-8.1942	13.9587|13.9587	0.64166|0.64166	0.0:0.8479:0.1521:0.0|0.0:0.8479:0.1521:0.0	.|.	.|409	.|Q5VX71	.|SUSD4_HUMAN	.|H	-1|409;409;340;249	.|ENSP00000344219:Q409H;ENSP00000355843:Q409H;ENSP00000399288:Q249H	.|ENSP00000344219:Q409H	.|Q	-|-	.|3	.|2	SUSD4|SUSD4	221463431|221463431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	2.846000|2.846000	0.48262|0.48262	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	.|CAG	SUSD4	-	-		0.642	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223396808	-1	no_errors	ENST00000483818	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	223396808	C	G	223396808	3	3	58	1	0	0	0	0	1	0	0	0	15440	912	32	1	253	1	SUSD4	1	223396808	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7139999	223396808	25853813	131	7881										
SUSD4	55061	genome.wustl.edu	37	chr1	223441956	223441956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgacaagtgatgattagcttCtctccatgtctatatgtctt	7	8	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:223441956C>G	ENST00000343846.3	-	3	1056	c.423G>C	c.(421-423)gaG>gaC	p.E141D	SUSD4_ENST00000344029.6_Missense_Mutation_p.E141D|SUSD4_ENST00000494793.2_Missense_Mutation_p.E141D|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.E141D|SUSD4_ENST00000484758.2_Missense_Mutation_p.E70D			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	141	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E141D(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGATTAGCTTCTCTCCATGTC	0.388																																																	2	Substitution - Missense(2)	cervix(2)											224	188	200					1																	223441956		2203	4300	6503	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.423G>C	1.37:g.223441956C>G	ENSP00000344219:p.Glu141Asp		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E141D	ENST00000343846.3	37	c.423	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244141	0.01481	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.65364	-0.15;-0.15;-0.15	5.91	-9.19	0.00685	Complement control module (2);Sushi/SCR/CCP (3);	0.411080	0.20689	N	0.087484	T	0.16727	0.0402	N	0.01048	-1.04	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.09377	0.002;0.004;0.0	T	0.37150	-0.9718	10	0.08381	T	0.77	-11.5909	3.8767	0.09059	0.2577:0.2961:0.3524:0.0939	.	70;141;141	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	D	141;141;70;141;141	ENSP00000344219:E141D;ENSP00000355843:E141D;ENSP00000339926:E141D	ENSP00000271787:E141D	E	-	3	2	SUSD4	221508579	0.255000	0.24002	0.064000	0.19789	0.309000	0.27889	-0.429000	0.06982	-1.651000	0.01504	-1.474000	0.01003	GAG	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.388	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223441956	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	missense	SNP	0.227	G	G	223441956	C	G	223441956	3	3	58	1	0	0	0	0	1	0	0	0	15440	912	32	1	1226	1	SUSD4	1	223441956	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	45148	223441956	25808665	132	7882										
LEFTY1	10637	genome.wustl.edu	37	chr1	226075320	226075320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcgaaggccttccagccgctCtcgtggacggacaccagcct	11	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:226075320C>G	ENST00000272134.5	-	3	595	c.516G>C	c.(514-516)gaG>gaC	p.E172D	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.E281Q	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	172					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)		p.E172D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					TCCAGCCGCTCTCGTGGACGG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											15	19	17					1																	226075320		2138	4178	6316	SO:0001583	missense	10637			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.516G>C	1.37:g.226075320C>G	ENSP00000272134:p.Glu172Asp		B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.E172D	ENST00000272134.5	37	c.516	CCDS1548.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.76|13.76	2.332759|2.332759	0.41297|0.41297	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	T|D	0.66460|0.81499	-0.21|-1.5	3.9|3.9	0.669|0.669	0.17918|0.17918	Transforming growth factor-beta, N-terminal (1);|.	0.050310|0.050310	0.85682|0.85682	N|D	0.000000|0.000000	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.79926|0.79926	2.475|2.475	0.40498|0.40498	D|D	0.980615|0.980615	B|B	0.31655|0.16802	0.334|0.019	B|B	0.34824|0.14023	0.19|0.01	T|T	0.73572|0.73572	-0.3940|-0.3940	10|10	0.25106|0.87932	T|D	0.35|0	-0.5155|-0.5155	5.3092|5.3092	0.15821|0.15821	0.1535:0.588:0.0:0.2585|0.1535:0.588:0.0:0.2585	.|.	172|281	O75610|E7EUD8	LFTY1_HUMAN|.	D|Q	172|281	ENSP00000272134:E172D|ENSP00000414068:E281Q	ENSP00000272134:E172D|ENSP00000414068:E281Q	E|E	-|-	3|1	2|0	LEFTY1|RP4-559A3.7	224141943|224141943	0.868000|0.868000	0.29978|0.29978	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	-0.054000|-0.054000	0.11826|0.11826	0.762000|0.762000	0.33152|0.33152	-0.657000|-0.657000	0.03884|0.03884	GAG|GAG	LEFTY1	-	pfam_TGF-b_N,pirsf_LRDF,prints_LRDF		0.716	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY1	HGNC	protein_coding	OTTHUMT00000091155.1	C	NM_020997		226075320	-1	no_errors	ENST00000272134	ensembl	human	known	70_37	missense	SNP	0.999	G	G	226075320	C	G	226075320	3	3	58	1	0	0	0	0	1	0	0	0	8735	912	32	1	592	1	LEFTY1	1	226075320	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2633364	226075320	23175301	133	7883										
TRIM17	51127	genome.wustl.edu	37	chr1	228596276	228596276	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtgatgttcatgcccacctCccagtagtgcctcccagagg	11	14	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:228596276C>G	ENST00000366697.2	-	6	2016	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	TRIM17_ENST00000295033.3_Missense_Mutation_p.E354Q|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.E354Q			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	354	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E354Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ATGCCCACCTCCCAGTAGTGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											52	56	55					1																	228596276		2203	4300	6503	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1060G>C	1.37:g.228596276C>G	ENSP00000355658:p.Glu354Gln		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E354Q	ENST00000366697.2	37	c.1060	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.085116	0.94100	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.77877	-1.13;-1.13;-1.13	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.141093	0.32640	N	0.005828	D	0.89591	0.6759	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91531	0.5242	10	0.87932	D	0	.	15.9788	0.80091	0.0:1.0:0.0:0.0	.	354	Q9Y577	TRI17_HUMAN	Q	354	ENSP00000355658:E354Q;ENSP00000355659:E354Q;ENSP00000295033:E354Q	ENSP00000295033:E354Q	E	-	1	0	TRIM17	226662899	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.426000	0.66476	2.531000	0.85337	0.655000	0.94253	GAG	TRIM17	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	C	NM_016102		228596276	-1	no_errors	ENST00000295033	ensembl	human	known	70_37	missense	SNP	1.000	G	G	228596276	C	G	228596276	3	3	58	1	0	0	0	0	1	0	0	0	16524	864	30	1	377	1	TRIM17	1	228596276	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2520956	228596276	20654345	134	7884										
PGBD5	79605	genome.wustl.edu	37	chr1	230492790	230492790	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctcgaagcgggcctggctCatgacgagggcgaggctgcg	17	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:230492790C>T	ENST00000525115.1	-	2	425	c.402G>A	c.(400-402)atG>atA	p.M134I	PGBD5_ENST00000321327.2_Missense_Mutation_p.M233I|PGBD5_ENST00000391860.1_Missense_Mutation_p.M88I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	134						integral component of membrane (GO:0016021)		p.M233I(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGGCCTGGCTCATGACGAGGG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											91	78	82					1																	230492790		2203	4300	6503	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.402G>A	1.37:g.230492790C>T	ENSP00000431404:p.Met134Ile		A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.M233I	ENST00000525115.1	37	c.699		1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656626	0.88154	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.37915	1.17;1.17;1.17	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.32530	0.975	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.50833	-0.8781	10	0.72032	D	0.01	-59.592	20.5568	0.99304	0.0:1.0:0.0:0.0	.	134	Q8N414	PGBD5_HUMAN	I	88;233;134	ENSP00000375733:M88I;ENSP00000322530:M233I;ENSP00000431404:M134I	ENSP00000322530:M233I	M	-	3	0	PGBD5	228559413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	ATG	PGBD5	-	NULL		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230492790	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	missense	SNP	1.000	T	T	230492790	C	T	230492790	3	4	58	1	0	0	0	0	1	0	0	0	11808	826	29	1	989	1	PGBD5	1	230492790	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1896514	230492790	18757831	135	7885										
EXOC8	149371	genome.wustl.edu	37	chr1	231472064	231472064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtcagtgcctgcaaaatcGatctcaaattctcttgcagt	7	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:231472064G>C	ENST00000360394.2	-	1	1514	c.1428C>G	c.(1426-1428)atC>atG	p.I476M	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.I472M|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	476					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I476M(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTGCAAAATCGATCTCAAATT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											39	36	37					1																	231472064		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1428C>G	1.37:g.231472064G>C	ENSP00000353564:p.Ile476Met		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I476M	ENST00000360394.2	37	c.1428	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	G	3.246	-0.154259	0.06585	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.75938	-0.98;-0.98	5.44	-10.9	0.00192	Cullin repeat-like-containing domain (1);	0.227427	0.43919	D	0.000503	T	0.31702	0.0805	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.42905	T	0.14	-3.2999	6.1772	0.20451	0.2262:0.2511:0.4436:0.0791	.	476	Q8IYI6	EXOC8_HUMAN	M	476;472	ENSP00000353564:I476M;ENSP00000355605:I472M	ENSP00000353564:I476M	I	-	3	3	EXOC8	229538687	0.000000	0.05858	0.131000	0.22000	0.650000	0.38633	-3.059000	0.00624	-3.084000	0.00250	-2.241000	0.00287	ATC	EXOC8	-	superfamily_Cullin_repeat-like_dom		0.488	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		G	NM_175876		231472064	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	0.023	C	C	231472064	G	C	231472064	3	2	58	1	0	0	0	0	1	0	0	0	5323	1048	37	1	753	1	EXOC8	1	231472064	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	979274	231472064	17778557	136	7886										
EXOC8	149371	genome.wustl.edu	37	chr1	231472148	231472148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tagagtaaagtggcaccttcGatgcgaagctgacgaattgc	12	8	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:231472148G>C	ENST00000360394.2	-	1	1430	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.I444M|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	448					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I448M(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCACCTTCGATGCGAAGCT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											55	53	54					1																	231472148		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1344C>G	1.37:g.231472148G>C	ENSP00000353564:p.Ile448Met		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I448M	ENST00000360394.2	37	c.1344	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	g	6.172	0.400008	0.11696	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77229	-1.08;-1.07	5.97	-7.55	0.01327	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	L	0.33753	1.03	0.58432	D	0.999992	D	0.71674	0.998	D	0.79108	0.992	T	0.80580	-0.1319	10	0.33940	T	0.23	-21.8946	19.218	0.93785	0.3726:0.0:0.6274:0.0	.	448	Q8IYI6	EXOC8_HUMAN	M	448;444	ENSP00000353564:I448M;ENSP00000355605:I444M	ENSP00000353564:I448M	I	-	3	3	EXOC8	229538771	0.340000	0.24792	0.729000	0.30791	0.531000	0.34715	-0.279000	0.08479	-1.490000	0.01842	-2.464000	0.00204	ATC	EXOC8	-	superfamily_Cullin_repeat-like_dom		0.488	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		G	NM_175876		231472148	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	0.633	C	C	231472148	G	C	231472148	3	2	58	1	0	0	0	0	1	0	0	0	5323	1048	37	1	837	1	EXOC8	1	231472148	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	84	231472148	17778473	137	7887										
DISC1	27185	genome.wustl.edu	37	chr1	231830494	231830494	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactcttgggacaccctgctCaggaaatgggagccagtgct	12	12	2	0	rs557511436		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:231830494C>T	ENST00000602281.1	+	2	1043	c.990C>T	c.(988-990)ctC>ctT	p.L330L	DISC1_ENST00000366636.4_Silent_p.L330L|DISC1_ENST00000539444.1_Silent_p.L330L|DISC1_ENST00000537876.1_Silent_p.L330L|DISC1_ENST00000317586.4_Silent_p.L330L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Silent_p.L330L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Silent_p.L330L|DISC1_ENST00000366633.3_Silent_p.L330L	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	330	Interaction with TRAF3IP1.		L -> F (in dbSNP:rs34622148).		canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.L330L(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACACCCTGCTCAGGAAATGGG	0.622																																																	4	Substitution - coding silent(4)	cervix(4)											31	31	31					1																	231830494		2203	4300	6503	SO:0001819	synonymous_variant	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.990C>T	1.37:g.231830494C>T			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	superfamily_Prefoldin	p.L330	ENST00000602281.1	37	c.990	CCDS59205.1	1																																																																																			DISC1	-	NULL		0.622	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	C	NM_018662		231830494	1	no_errors	ENST00000439617	ensembl	human	known	70_37	silent	SNP	0.007	T	T	231830494	C	T	231830494	2	4	58	1	0	0	0	0	0	0	0	1	4548	813	29	1		1	DISC1	1	231830494	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	358346	231830494	17420127	138	7888										
PCNXL2	80003	genome.wustl.edu	37	chr1	233394913	233394913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggaggctgccccttgcctCctctttcctttcctttacca	6	16	1	0	rs571746720		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:233394913C>A	ENST00000258229.9	-	5	929	c.695G>T	c.(694-696)gGa>gTa	p.G232V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	232						integral component of membrane (GO:0016021)		p.G232V(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCCTTGCCTCCTCTTTCCTT	0.507																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|cervix(1)											114	117	116					1																	233394913		1946	4147	6093	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.695G>T	1.37:g.233394913C>A	ENSP00000258229:p.Gly232Val		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.G232V	ENST00000258229.9	37	c.695	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452981	0.63290	.	.	ENSG00000135749	ENST00000258229	T	0.62788	0.0	4.27	0.205	0.15204	.	.	.	.	.	T	0.50137	0.1598	L	0.27053	0.805	0.20196	N	0.999927	D	0.54047	0.964	P	0.46629	0.522	T	0.42682	-0.9437	9	0.62326	D	0.03	.	7.8036	0.29189	0.0:0.5578:0.0:0.4422	.	232	A6NKB5	PCX2_HUMAN	V	232	ENSP00000258229:G232V	ENSP00000258229:G232V	G	-	2	0	PCNXL2	231461536	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-0.357000	0.07651	-0.048000	0.13401	0.555000	0.69702	GGA	PCNXL2	-	NULL		0.507	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233394913	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.001	A	A	233394913	C	A	233394913	3	1	58	1	0	0	0	0	1	0	0	0	11616	855	30	3	5838	3	PCNXL2	1	233394913	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1564419	233394913	15855708	139	7889										
LYST	1130	genome.wustl.edu	37	chr1	235955247	235955247	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagcctctttcttgctccgtGaaactcgtgctcttctcaat	6	14	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:235955247G>A	ENST00000389794.3	-	12	4469	c.4295C>T	c.(4294-4296)tCa>tTa	p.S1432L	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.S1432L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1432					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S1432L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGCTCCGTGAAACTCGTGC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											150	149	149					1																	235955247		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4295C>T	1.37:g.235955247G>A	ENSP00000374444:p.Ser1432Leu		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1432L	ENST00000389794.3	37	c.4295	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066814	0.55539	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.61	5.61	0.85477	.	0.581133	0.19869	N	0.104224	T	0.47600	0.1454	L	0.33485	1.01	0.80722	D	1	B;B	0.17268	0.021;0.016	B;B	0.18561	0.022;0.012	T	0.35201	-0.9798	10	0.40728	T	0.16	.	13.2338	0.59958	0.0728:0.0:0.9272:0.0	.	1432;1432	Q99698-3;Q99698	.;LYST_HUMAN	L	1432	ENSP00000374444:S1432L;ENSP00000374443:S1432L	ENSP00000374443:S1432L	S	-	2	0	LYST	234021870	1.000000	0.71417	0.150000	0.22450	0.995000	0.86356	7.258000	0.78371	2.803000	0.96430	0.650000	0.86243	TCA	LYST	-	superfamily_ARM-type_fold		0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235955247	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.988	A	A	235955247	G	A	235955247	3	1	58	1	0	0	0	0	1	0	0	0	9151	1294	45	1	7278	1	LYST	1	235955247	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2560334	235955247	13295374	140	7890										
RYR2	6262	genome.wustl.edu	37	chr1	237754039	237754039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acactgatatcatgttttatCgcctgagcatgccgatcgag	9	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:237754039C>T	ENST00000366574.2	+	31	4224	c.3907C>T	c.(3907-3909)Cgc>Tgc	p.R1303C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1301C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1287C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1303	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1301C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGTTTTATCGCCTGAGCAT	0.522																																																	1	Substitution - Missense(1)	cervix(1)											229	216	220					1																	237754039		1964	4164	6128	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3907C>T	1.37:g.237754039C>T	ENSP00000355533:p.Arg1303Cys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R1301C	ENST00000366574.2	37	c.3901	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	c	11.67	1.708361	0.30322	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98280	-4.84;-4.83;-4.83	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000032	D	0.96956	0.9006	M	0.78456	2.415	0.80722	D	1	P	0.34892	0.474	B	0.28709	0.093	D	0.96743	0.9548	10	0.87932	D	0	.	13.8363	0.63410	0.1528:0.8472:0.0:0.0	.	1303	Q92736	RYR2_HUMAN	C	1303;1301;1287	ENSP00000355533:R1303C;ENSP00000353174:R1301C;ENSP00000443798:R1287C	ENSP00000353174:R1301C	R	+	1	0	RYR2	235820662	0.998000	0.40836	0.971000	0.41717	0.192000	0.23643	3.761000	0.55242	2.777000	0.95525	0.655000	0.94253	CGC	RYR2	-	NULL		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237754039	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.998	T	T	237754039	C	T	237754039	3	4	58	1	0	0	0	0	1	0	0	0	13799	884	31	1	4029	1	RYR2	1	237754039	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1798792	237754039	11496582	141	7891										
RYR2	6262	genome.wustl.edu	37	chr1	237872193	237872193	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taataaataaagtgaaacctCagctcttgaaaactcatttc	4	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:237872193C>T	ENST00000366574.2	+	69	10254	c.9937C>T	c.(9937-9939)Cag>Tag	p.Q3313*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3311*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3297*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3313					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q3311*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAACCTCAGCTCTTGAA	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											38	36	37					1																	237872193		1822	4082	5904	SO:0001587	stop_gained	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9937C>T	1.37:g.237872193C>T	ENSP00000355533:p.Gln3313*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Q3311*	ENST00000366574.2	37	c.9931	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	52	18.922414	0.99912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3683	15.392	0.74751	0.0:0.8614:0.1386:0.0	.	.	.	.	X	3313;3311;3297;268	.	ENSP00000353174:Q3311X	Q	+	1	0	RYR2	235938816	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	1.554000	0.36266	2.706000	0.92434	0.655000	0.94253	CAG	RYR2	-	NULL		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237872193	1	no_errors	ENST00000360064	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	237872193	C	T	237872193	4	4	58	1	0	0	0	0	0	1	0	0	13799	827	29	1	10211	1	RYR2	1	237872193	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	118154	237872193	11378428	142	7892										
ZP4	57829	genome.wustl.edu	37	chr1	238048827	238048827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacgtaaatgggatcccgaaGcaacttcaccactgggtagt	10	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:238048827G>C	ENST00000366570.4	-	8	1182	c.1024C>G	c.(1024-1026)Ctt>Gtt	p.L342V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	342	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.L342V(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATCCCGAAGCAACTTCACC	0.498																																					NSCLC(166;160 2029 11600 18754 19936)												1	Substitution - Missense(1)	cervix(1)											67	66	66					1																	238048827		2203	4300	6503	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1024C>G	1.37:g.238048827G>C	ENSP00000355529:p.Leu342Val		B2RAE1	Missense_Mutation	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.L342V	ENST00000366570.4	37	c.1024	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876984	0.51801	.	.	ENSG00000116996	ENST00000366570	D	0.83419	-1.72	4.95	4.95	0.65309	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000002	D	0.93429	0.7904	H	0.94423	3.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95188	0.8305	10	0.87932	D	0	-22.4989	15.7182	0.77685	0.0:0.0:1.0:0.0	.	342	Q12836	ZP4_HUMAN	V	342	ENSP00000355529:L342V	ENSP00000355529:L342V	L	-	1	0	ZP4	236115450	1.000000	0.71417	0.551000	0.28230	0.136000	0.21042	5.173000	0.65010	2.294000	0.77228	0.655000	0.94253	CTT	ZP4	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.498	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	G			238048827	-1	no_errors	ENST00000366570	ensembl	human	known	70_37	missense	SNP	0.997	C	C	238048827	G	C	238048827	3	2	58	1	0	0	0	0	1	0	0	0	18248	971	34	4	618	4	ZP4	1	238048827	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	176634	238048827	11201794	143	7893										
ZP4	57829	genome.wustl.edu	37	chr1	238053866	238053866	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actggaataatctggtgcctCaggcttatgctggccactca	10	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:238053866C>T	ENST00000366570.4	-	1	228	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	24					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.E24K(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGGTGCCTCAGGCTTATGC	0.532																																					NSCLC(166;160 2029 11600 18754 19936)												1	Substitution - Missense(1)	cervix(1)											58	55	56					1																	238053866		2203	4300	6503	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.70G>A	1.37:g.238053866C>T	ENSP00000355529:p.Glu24Lys		B2RAE1	Missense_Mutation	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E24K	ENST00000366570.4	37	c.70	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293108	0.23564	.	.	ENSG00000116996	ENST00000366570	T	0.74002	-0.8	4.42	1.27	0.21489	.	1.306050	0.05540	N	0.565651	T	0.58906	0.2155	N	0.25380	0.74	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.40664	-0.9551	10	0.35671	T	0.21	-7.1257	2.3119	0.04188	0.1964:0.4999:0.1908:0.1129	.	24	Q12836	ZP4_HUMAN	K	24	ENSP00000355529:E24K	ENSP00000355529:E24K	E	-	1	0	ZP4	236120489	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.875000	0.00718	0.080000	0.16959	0.563000	0.77884	GAG	ZP4	-	NULL		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	C			238053866	-1	no_errors	ENST00000366570	ensembl	human	known	70_37	missense	SNP	0.000	T	T	238053866	C	T	238053866	3	4	58	1	0	0	0	0	1	0	0	0	18248	835	29	1	1600	1	ZP4	1	238053866	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5039	238053866	11196755	144	7894										
KMO	8564	genome.wustl.edu	37	chr1	241714342	241714342	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttccctatgggacaaagtctCaggtaggtttaccccggaga	11	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:241714342C>T	ENST00000366559.4	+	4	621	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	KMO_ENST00000366558.3_Nonsense_Mutation_p.Q104*|KMO_ENST00000366557.4_Nonsense_Mutation_p.Q104*|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.Q104*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GACAAAGTCTCAGGTAGGTTT	0.443																																																	1	Substitution - Nonsense(1)	cervix(1)											128	127	127					1																	241714342		2203	4300	6503	SO:0001587	stop_gained	8564			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.310C>T	1.37:g.241714342C>T	ENSP00000355517:p.Gln104*			Nonsense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.Q104*	ENST00000366559.4	37	c.310	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.057969	0.98032	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000355515:Q104X	Q	+	1	0	KMO	239780965	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	5.823000	0.69272	2.941000	0.99782	0.655000	0.94253	CAG	KMO	-	pfam_mOase_FAD-bd		0.443	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	C	NM_003679		241714342	1	no_errors	ENST00000366559	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	241714342	C	T	241714342	4	4	58	1	0	0	0	0	0	1	0	0	8444	827	29	1	324	1	KMO	1	241714342	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3660476	241714342	7536279	145	7895										
AKT3	10000	genome.wustl.edu	37	chr1	243708851	243708851	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgccagtttactccagagaaGaaactgtgtctcataatttc	7	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:243708851G>C	ENST00000366539.1	-	12	1412	c.1212C>G	c.(1210-1212)ttC>ttG	p.F404L	AKT3_ENST00000263826.5_Missense_Mutation_p.F404L|RP11-269F20.1_ENST00000439849.1_RNA|AKT3_ENST00000366540.1_Missense_Mutation_p.F404L|AKT3_ENST00000336199.5_Missense_Mutation_p.F404L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F404L(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTCCAGAGAAGAAACTGTGTC	0.318																																																	3	Substitution - Missense(3)	cervix(3)											109	107	108					1																	243708851		2203	4298	6501	SO:0001583	missense	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1212C>G	1.37:g.243708851G>C	ENSP00000355497:p.Phe404Leu		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.F404L	ENST00000366539.1	37	c.1212	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298413	0.81025	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.65	2.73	0.32206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79019	-0.1974	10	0.87932	D	0	.	11.244	0.48985	0.1928:0.0:0.8072:0.0	.	404;404	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	L	404	ENSP00000336943:F404L;ENSP00000355498:F404L;ENSP00000355497:F404L;ENSP00000263826:F404L	ENSP00000263826:F404L	F	-	3	2	AKT3	241775474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.896000	0.48656	0.315000	0.23110	0.650000	0.86243	TTC	AKT3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.318	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	G	NM_181690		243708851	-1	no_errors	ENST00000263826	ensembl	human	known	70_37	missense	SNP	1.000	C	C	243708851	G	C	243708851	3	2	58	1	0	0	0	0	1	0	0	0	481	933	33	1	287	1	AKT3	1	243708851	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1994509	243708851	5541770	146	7896										
C1orf101	257044	genome.wustl.edu	37	chr1	244735747	244735747	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aattacacaacaagagcattCattttcttaagtacatctgg	5	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:244735747C>T	ENST00000366534.4	+	11	1677	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.F541F|C1orf101_ENST00000366531.3_Silent_p.F390F	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	541						CatSper complex (GO:0036128)		p.F541F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CAAGAGCATTCATTTTCTTAA	0.318																																																	2	Substitution - coding silent(2)	cervix(2)											104	96	99					1																	244735747		2203	4300	6503	SO:0001819	synonymous_variant	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1623C>T	1.37:g.244735747C>T			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	NULL	p.F541	ENST00000366534.4	37	c.1623	CCDS44340.1	1																																																																																			C1orf101	-	NULL		0.318	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	C	NM_173807		244735747	1	no_errors	ENST00000366534	ensembl	human	known	70_37	silent	SNP	0.000	T	T	244735747	C	T	244735747	2	4	58	1	0	0	0	0	0	0	0	1	1981	825	29	1		1	C1orf101	1	244735747	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1026896	244735747	4514874	147	7897										
AHCTF1	25909	genome.wustl.edu	37	chr1	247024261	247024261	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaatacatctttatctccatCcttttcagtttgttcagtta	3	9	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:247024261C>G	ENST00000391829.2	-	29	4195	c.4072G>C	c.(4072-4074)Gat>Cat	p.D1358H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D1367H|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D1393H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1358	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1358H(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTATCTCCATCCTTTTCAGTT	0.388																																					Colon(145;197 1800 4745 15099 26333)												1	Substitution - Missense(1)	cervix(1)											55	57	56					1																	247024261		2201	4297	6498	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4072G>C	1.37:g.247024261C>G	ENSP00000375705:p.Asp1358His		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.D1367H	ENST00000391829.2	37	c.4099		1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850787	0.32699	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.40225	1.04;1.05;1.05	5.8	3.93	0.45458	.	0.558298	0.18214	N	0.148093	T	0.55242	0.1908	L	0.59436	1.845	0.20489	N	0.999895	D;D;D	0.71674	0.997;0.998;0.99	D;P;P	0.63192	0.912;0.891;0.688	T	0.46331	-0.9199	10	0.62326	D	0.03	-3.6035	10.2694	0.43475	0.0:0.7881:0.0:0.2119	.	219;1393;1358	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	H	1393;1367;1358	ENSP00000355464:D1393H;ENSP00000355465:D1367H;ENSP00000375705:D1358H	ENSP00000355465:D1367H	D	-	1	0	AHCTF1	245090884	0.006000	0.16342	0.442000	0.26870	0.013000	0.08279	0.755000	0.26405	0.913000	0.36797	0.650000	0.86243	GAT	AHCTF1	-	NULL		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247024261	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	0.379	G	G	247024261	C	G	247024261	3	3	58	1	0	0	0	0	1	0	0	0	408	855	30	1	2760	1	AHCTF1	1	247024261	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2288514	247024261	2226360	148	7898										
AHCTF1	25909	genome.wustl.edu	37	chr1	247063499	247063499	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtcctacttacaacagactCcaatgaccacagtgcaaaat	5	12	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:247063499C>G	ENST00000391829.2	-	10	1423	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E443Q|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E469Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	434	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E434Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACAACAGACTCCAATGACCAC	0.373																																					Colon(145;197 1800 4745 15099 26333)												1	Substitution - Missense(1)	cervix(1)											72	79	76					1																	247063499		2198	4295	6493	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1300G>C	1.37:g.247063499C>G	ENSP00000375705:p.Glu434Gln		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E443Q	ENST00000391829.2	37	c.1327		1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923252	0.33908	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32753	1.44;1.44;1.44	4.86	4.86	0.63082	.	0.270733	0.40728	N	0.001022	T	0.27697	0.0681	N	0.19112	0.55	0.37484	D	0.91612	P;P	0.46656	0.882;0.722	P;B	0.44359	0.447;0.329	T	0.26985	-1.0087	10	0.62326	D	0.03	-5.7822	18.337	0.90291	0.0:1.0:0.0:0.0	.	469;434	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Q	469;443;434	ENSP00000355464:E469Q;ENSP00000355465:E443Q;ENSP00000375705:E434Q	ENSP00000355465:E443Q	E	-	1	0	AHCTF1	245130122	1.000000	0.71417	0.993000	0.49108	0.026000	0.11368	7.445000	0.80570	2.386000	0.81285	0.455000	0.32223	GAG	AHCTF1	-	NULL		0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247063499	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	G	G	247063499	C	G	247063499	3	3	58	1	0	0	0	0	1	0	0	0	408	864	30	1	5608	1	AHCTF1	1	247063499	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	39238	247063499	2187122	149	7899										
OR2T2	401992	genome.wustl.edu	37	chr1	248616299	248616299	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacttcttgctcagccagctCtccatcatggataccatcta	5	14	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:248616299C>G	ENST00000342927.3	+	1	223	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L67L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCCAGCTCTCCATCATGG	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											123	135	131					1																	248616299		2202	4281	6483	SO:0001819	synonymous_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.201C>G	1.37:g.248616299C>G			B2RNM1|B9EH01	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L67	ENST00000342927.3	37	c.201	CCDS31116.1	1																																																																																			OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	C	NM_001004136		248616299	1	no_errors	ENST00000342927	ensembl	human	known	70_37	silent	SNP	0.787	G	G	248616299	C	G	248616299	2	3	58	1	0	0	0	0	0	0	0	1	11044	900	32	1		1	OR2T2	1	248616299	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1552800	248616299	634322	150	7900										
OR2G6	391211	genome.wustl.edu	37	chr1	248685098	248685098	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctcatactagtatgttgtCtggactccagactccacact	6	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:248685098C>G	ENST00000343414.4	+	1	183	c.151C>G	c.(151-153)Ctg>Gtg	p.L51V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L51V(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTATGTTGTCTGGACTCCAG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											146	125	132					1																	248685098		2203	4300	6503	SO:0001583	missense	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.151C>G	1.37:g.248685098C>G	ENSP00000341291:p.Leu51Val		B2RP33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L51V	ENST00000343414.4	37	c.151	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	-	2.145	-0.395845	0.04899	.	.	ENSG00000188558	ENST00000343414	T	0.02944	4.1	3.68	-5.54	0.02544	GPCR, rhodopsin-like superfamily (1);	0.230352	0.21887	N	0.067645	T	0.02047	0.0064	L	0.52011	1.625	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.42766	-0.9432	10	0.45353	T	0.12	.	0.2107	0.00156	0.2881:0.253:0.1429:0.316	.	51	Q5TZ20	OR2G6_HUMAN	V	51	ENSP00000341291:L51V	ENSP00000341291:L51V	L	+	1	2	OR2G6	246751721	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.014000	0.00646	-0.563000	0.06078	0.400000	0.26472	CTG	OR2G6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	C	XM_372842		248685098	1	no_errors	ENST00000343414	ensembl	human	known	70_37	missense	SNP	0.000	G	G	248685098	C	G	248685098	3	3	58	1	0	0	0	0	1	0	0	0	11024	912	32	1	153	1	OR2G6	1	248685098	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	68799	248685098	565523	151	7901										
PXDN	7837	genome.wustl.edu	37	chr2	1653335	1653335	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgtcgtgcgtccggtacttCtggtggaagcacatgtccga	13	12	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:1653335C>T	ENST00000252804.4	-	17	2267	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	739					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q739Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCGGTACTTCTGGTGGAAGC	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											106	114	111					2																	1653335		2068	4198	6266	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2217G>A	2.37:g.1653335C>T			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.Q739	ENST00000252804.4	37	c.2217	CCDS46221.1	2																																																																																			PXDN	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.617	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1653335	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1653335	C	T	1653335	2	4	58	1	0	0	0	0	0	0	0	1	12877	912	32	1		1	PXDN	2	1653335	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		1653335	241546038	152	7902										
PXDN	7837	genome.wustl.edu	37	chr2	1677580	1677580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atctgtcttcatgctcagctCattactacaaagacagaaat	5	10	5	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:1677580C>T	ENST00000252804.4	-	9	903	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	285	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E285K(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGCTCAGCTCATTACTACAA	0.512																																																	1	Substitution - Missense(1)	cervix(1)											93	94	94					2																	1677580		2039	4193	6232	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.853G>A	2.37:g.1677580C>T	ENSP00000252804:p.Glu285Lys		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.E285K	ENST00000252804.4	37	c.853	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.216227|3.216227	0.58452|0.58452	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.200912|.	0.44688|.	D|.	0.000436|.	T|T	0.58250|0.58250	0.2109|0.2109	L|L	0.31926|0.31926	0.97|0.97	0.53688|0.53688	D|D	0.999978|0.999978	B;B|.	0.20368|.	0.036;0.044|.	B;B|.	0.24006|.	0.049;0.05|.	T|T	0.52990|0.52990	-0.8501|-0.8501	10|5	0.51188|.	T|.	0.08|.	-53.8653|-53.8653	17.3575|17.3575	0.87341|0.87341	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;285|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	K|I	285|280	ENSP00000252804:E285K|.	ENSP00000252804:E285K|.	E|M	-|-	1|3	0|0	PXDN|PXDN	1656587|1656587	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.343000|0.343000	0.28985|0.28985	7.683000|7.683000	0.84093|0.84093	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GAG|ATG	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1677580	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1677580	C	T	1677580	3	4	58	1	0	0	0	0	1	0	0	0	12877	835	29	1	3646	1	PXDN	2	1677580	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	24245	1677580	241521793	153	7903										
SOX11	6664	genome.wustl.edu	37	chr2	5832886	5832886	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcggagagcttggaagcggaGagcaacctgccccgggaggc	18	11	0	2	rs369950584		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:5832886G>C	ENST00000322002.3	+	1	88	c.33G>C	c.(31-33)gaG>gaC	p.E11D	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	11					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)	p.E11D(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAAGCGGAGAGCAACCTGC	0.697																																																	1	Substitution - Missense(1)	cervix(1)											23	25	25					2																	5832886		2202	4300	6502	SO:0001583	missense	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.33G>C	2.37:g.5832886G>C	ENSP00000322568:p.Glu11Asp		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.E11D	ENST00000322002.3	37	c.33	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	g	9.623	1.134242	0.21123	.	.	ENSG00000176887	ENST00000322002	D	0.97811	-4.55	3.18	0.94	0.19513	.	0.095949	0.40469	U	0.001084	D	0.88797	0.6534	N	0.01874	-0.695	0.28163	N	0.928901	B	0.09022	0.002	B	0.11329	0.006	T	0.82450	-0.0451	10	0.22109	T	0.4	.	7.3787	0.26843	0.0:0.3413:0.4829:0.1759	.	11	P35716	SOX11_HUMAN	D	11	ENSP00000322568:E11D	ENSP00000322568:E11D	E	+	3	2	SOX11	5750337	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	0.526000	0.22971	0.379000	0.24794	0.472000	0.43445	GAG	SOX11	-	pirsf_SOX-12/11/4a		0.697	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	G	NM_003108		5832886	1	no_errors	ENST00000322002	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5832886	G	C	5832886	3	2	58	1	0	0	0	0	1	0	0	0	14972	933	33	1	35	1	SOX11	2	5832886	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4155306	5832886	237366487	154	7904										
ADAM17	6868	genome.wustl.edu	37	chr2	9645420	9645420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcccacaaactttattgctGcgttcttgaaaacactcctg	5	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:9645420G>A	ENST00000310823.3	-	12	1601	c.1419C>T	c.(1417-1419)cgC>cgT	p.R473R	RP11-400L8.2_ENST00000480764.1_RNA|RP11-400L8.2_ENST00000472619.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	473	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.R473R(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTATTGCTGCGTTCTTGAA	0.433																																																	1	Substitution - coding silent(1)	cervix(1)											176	153	161					2																	9645420		2203	4300	6503	SO:0001819	synonymous_variant	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1419C>T	2.37:g.9645420G>A			O60226	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.R473	ENST00000310823.3	37	c.1419	CCDS1665.1	2																																																																																			ADAM17	-	pfscan_Peptidase_M12B		0.433	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9645420	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9645420	G	A	9645420	2	1	58	1	0	0	0	0	0	0	0	1	238	1306	46	4		4	ADAM17	2	9645420	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3812534	9645420	233553953	155	7905										
ADAM17	6868	genome.wustl.edu	37	chr2	9645487	9645487	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgattgtttactgcagtttGaaaacatcttgagagaaaaa	8	4	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:9645487G>A	ENST00000310823.3	-	12	1534	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	RP11-400L8.2_ENST00000480764.1_RNA|RP11-400L8.2_ENST00000472619.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	451	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S451L(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACTGCAGTTTGAAAACATCTT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											96	90	92					2																	9645487		2203	4300	6503	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1352C>T	2.37:g.9645487G>A	ENSP00000309968:p.Ser451Leu		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.S451L	ENST00000310823.3	37	c.1352	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.086862	0.94100	.	.	ENSG00000151694	ENST00000310823	D	0.92752	-3.1	5.66	5.66	0.87406	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97559	1.0097	10	0.87932	D	0	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	451;451	B2RNB2;P78536	.;ADA17_HUMAN	L	451	ENSP00000309968:S451L	ENSP00000309968:S451L	S	-	2	0	ADAM17	9562938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.649000	0.89929	0.557000	0.71058	TCA	ADAM17	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.363	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9645487	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9645487	G	A	9645487	3	1	58	1	0	0	0	0	1	0	0	0	238	1294	45	1	1154	1	ADAM17	2	9645487	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	67	9645487	233553886	156	7906										
ROCK2	9475	genome.wustl.edu	37	chr2	11341440	11341440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggtctcatacttaccgttCatcctgtaattcctgtttct	6	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:11341440C>T	ENST00000315872.6	-	22	3167	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	ROCK2_ENST00000401753.1_Missense_Mutation_p.E664K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	907					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.E907K(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTTACCGTTCATCCTGTAAT	0.358																																																	2	Substitution - Missense(2)	cervix(2)											227	206	213					2																	11341440		1858	4103	5961	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2719G>A	2.37:g.11341440C>T	ENSP00000317985:p.Glu907Lys		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E907K	ENST00000315872.6	37	c.2719	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.337953	0.95758	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.88	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.81497	-0.0906	10	0.52906	T	0.07	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	907	O75116	ROCK2_HUMAN	K	907;664;265	ENSP00000317985:E907K;ENSP00000385509:E664K	ENSP00000317985:E907K	E	-	1	0	ROCK2	11258891	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.084000	0.71335	2.588000	0.87417	0.491000	0.48974	GAA	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin		0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	C			11341440	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11341440	C	T	11341440	3	4	58	1	0	0	0	0	1	0	0	0	13548	835	29	1	1495	1	ROCK2	2	11341440	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1695953	11341440	231857933	157	7907										
LPIN1	23175	genome.wustl.edu	37	chr2	11964764	11964764	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctttccttccaggtatgtGagactctgtgaagtagtcga	10	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:11964764G>A	ENST00000256720.2	+	20	2613	c.2520G>A	c.(2518-2520)gtG>gtA	p.V840V	LPIN1_ENST00000396099.1_Silent_p.V882V|LPIN1_ENST00000425416.2_Silent_p.V846V|LPIN1_ENST00000396097.1_Silent_p.V570V|LPIN1_ENST00000404113.2_Silent_p.V341V|LPIN1_ENST00000449576.2_Silent_p.V925V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	840					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.V840V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCAGGTATGTGAGACTCTGTG	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											127	111	117					2																	11964764		2203	4300	6503	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2520G>A	2.37:g.11964764G>A			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.V925	ENST00000256720.2	37	c.2775	CCDS1682.1	2																																																																																			LPIN1	-	NULL		0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	G	NM_145693		11964764	1	no_errors	ENST00000449576	ensembl	human	known	70_37	silent	SNP	0.988	A	A	11964764	G	A	11964764	2	1	58	1	0	0	0	0	0	0	0	1	8941	1277	45	1		1	LPIN1	2	11964764	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	623324	11964764	231234609	158	7908										
APOB	338	genome.wustl.edu	37	chr2	21228336	21228336	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatcaaggagtcttctggttGagaatattttgttaacacat	8	5	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:21228336G>C	ENST00000233242.1	-	26	11531	c.11404C>G	c.(11404-11406)Caa>Gaa	p.Q3802E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3802					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.Q3802E(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGGTTGAGAATATTTT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											149	149	149					2																	21228336		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11404C>G	2.37:g.21228336G>C	ENSP00000233242:p.Gln3802Glu		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q3802E	ENST00000233242.1	37	c.11404	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967989	0.02232	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00669	5.9	5.57	-2.38	0.06622	.	1.661020	0.03132	N	0.165389	T	0.00440	0.0014	N	0.03115	-0.41	0.09310	N	0.999997	B	0.13594	0.008	B	0.12837	0.008	T	0.44097	-0.9350	10	0.02654	T	1	.	7.177	0.25751	0.0:0.2483:0.3456:0.4061	.	3802	P04114	APOB_HUMAN	E	3802	ENSP00000233242:Q3802E	ENSP00000233242:Q3802E	Q	-	1	0	APOB	21081841	0.000000	0.05858	0.018000	0.16275	0.993000	0.82548	-0.632000	0.05489	-0.196000	0.10366	0.655000	0.94253	CAA	APOB	-	NULL		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	G			21228336	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	C	C	21228336	G	C	21228336	3	2	58	1	0	0	0	0	1	0	0	0	785	1299	45	1	2303	1	APOB	2	21228336	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9263572	21228336	221971037	159	7909										
APOB	338	genome.wustl.edu	37	chr2	21241867	21241867	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgttttgaatactcaccttCtgcttgagttacaaacttca	6	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:21241867C>T	ENST00000233242.1	-	20	3245	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1040					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E1040K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCACCTTCTGCTTGAGTT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											126	118	121					2																	21241867		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3118G>A	2.37:g.21241867C>T	ENSP00000233242:p.Glu1040Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E1040K	ENST00000233242.1	37	c.3118	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669991	0.88348	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01126	5.3	4.3	3.41	0.39046	Lipid transport, open beta-sheet (1);	0.000000	0.53938	D	0.000059	T	0.02929	0.0087	M	0.80183	2.485	0.80722	D	1	P	0.36974	0.576	B	0.39706	0.307	T	0.45338	-0.9268	10	0.54805	T	0.06	.	13.1907	0.59709	0.0:0.9194:0.0:0.0806	.	1040	P04114	APOB_HUMAN	K	1040	ENSP00000233242:E1040K	ENSP00000233242:E1040K	E	-	1	0	APOB	21095372	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	3.736000	0.55052	1.096000	0.41439	0.460000	0.39030	GAA	APOB	-	pfam_Lipid_transpt_open_b-sht		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21241867	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21241867	C	T	21241867	3	4	58	1	0	0	0	0	1	0	0	0	785	922	32	1	10613	1	APOB	2	21241867	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	13531	21241867	221957506	160	7910										
ITSN2	50618	genome.wustl.edu	37	chr2	24471720	24471720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgtaccaggttttttatttGatgctccagacttgctagca	8	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:24471720G>A	ENST00000355123.4	-	26	3595	c.3152C>T	c.(3151-3153)tCa>tTa	p.S1051L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S1024L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S1051L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1051					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.S1051L(1)|p.S1050L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTTATTTGATGCTCCAGA	0.328																																																	2	Substitution - Missense(2)	cervix(2)											89	95	93					2																	24471720		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3152C>T	2.37:g.24471720G>A	ENSP00000347244:p.Ser1051Leu		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.S1051L	ENST00000355123.4	37	c.3152	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604233	0.28534	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.75	3.93	0.45458	Src homology-3 domain (1);	1.233600	0.06558	N	0.746273	T	0.05640	0.0148	N	0.02539	-0.55	0.29745	N	0.836829	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.31613	-0.9937	10	0.11794	T	0.64	.	7.2032	0.25893	0.3237:0.0:0.6763:0.0	.	1051;1024;1051	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	L	1024;1051;1024;1051	ENSP00000354561:S1024L;ENSP00000347244:S1051L;ENSP00000370250:S1024L;ENSP00000384499:S1051L	ENSP00000347244:S1051L	S	-	2	0	ITSN2	24325224	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	1.498000	0.35660	1.586000	0.49944	0.655000	0.94253	TCA	ITSN2	-	superfamily_SH3_domain		0.328	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	G	NM_006277		24471720	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	0.850	A	A	24471720	G	A	24471720	3	1	58	1	0	0	0	0	1	0	0	0	7947	1294	45	1	2052	1	ITSN2	2	24471720	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3229853	24471720	218727653	161	7911										
DNMT3A	1788	genome.wustl.edu	37	chr2	25505330	25505330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgcttctgcaggggctcctCggccctccttgggggtgcag	15	15	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:25505330C>T	ENST00000264709.3	-	4	765	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R143Q|DNMT3A_ENST00000406659.3_Missense_Mutation_p.R143Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	143					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R143Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGCTCCTCGGCCCTCCTT	0.657			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	cervix(1)											17	20	19					2																	25505330		2200	4299	6499	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.428G>A	2.37:g.25505330C>T	ENSP00000264709:p.Arg143Gln		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.R143Q	ENST00000264709.3	37	c.428	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483568	0.63962	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.93604	-3.25;-3.25	4.81	3.8	0.43715	.	0.434183	0.19001	N	0.125342	T	0.82001	0.4942	N	0.14661	0.345	0.30239	N	0.795209	B;B	0.28470	0.213;0.0	B;B	0.19391	0.025;0.0	T	0.72896	-0.4153	10	0.13853	T	0.58	-1.9064	5.1977	0.15246	0.0:0.8133:0.0:0.1867	.	143;143	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	Q	143	ENSP00000324375:R143Q;ENSP00000264709:R143Q	ENSP00000264709:R143Q	R	-	2	0	DNMT3A	25358834	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	1.267000	0.33050	2.223000	0.72356	0.563000	0.77884	CGA	DNMT3A	-	NULL		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25505330	-1	no_errors	ENST00000264709	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25505330	C	T	25505330	3	4	58	1	0	0	0	0	1	0	0	0	4686	884	31	1	2523	1	DNMT3A	2	25505330	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1033610	25505330	217694043	162	7912										
C2orf39	92749	genome.wustl.edu	37	chr2	26667594	26667594	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccttcacaggcattttgctCttattgatgatgagaagttt	8	7	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:26667594C>G	ENST00000288710.2	+	10	1248	c.1174C>G	c.(1174-1176)Ctt>Gtt	p.L392V	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	392					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.L392V(1)									GCATTTTGCTCTTATTGATGA	0.512																																																	1	Substitution - Missense(1)	cervix(1)											71	65	67					2																	26667594		2203	4300	6503	SO:0001583	missense	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1174C>G	2.37:g.26667594C>G	ENSP00000288710:p.Leu392Val		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	NULL	p.L392V	ENST00000288710.2	37	c.1174	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183689	0.06340	.	.	ENSG00000157856	ENST00000288710	T	0.14022	2.54	5.51	-11.0	0.00169	.	1.678270	0.03000	N	0.148096	T	0.07908	0.0198	L	0.28115	0.83	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.13656	-1.0501	10	0.29301	T	0.29	0.1306	7.9438	0.29974	0.4287:0.1007:0.4101:0.0605	.	392	Q96MC2	CC164_HUMAN	V	392	ENSP00000288710:L392V	ENSP00000288710:L392V	L	+	1	0	CCDC164	26521098	0.000000	0.05858	0.000000	0.03702	0.714000	0.41099	-1.695000	0.01913	-2.093000	0.00856	-0.127000	0.14921	CTT	CCDC164	-	NULL		0.512	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	C	NM_145038		26667594	1	no_errors	ENST00000288710	ensembl	human	known	70_37	missense	SNP	0.000	G	G	26667594	C	G	26667594	3	3	58	1	0	0	0	0	1	0	0	0	2169	913	32	1	1212	1	C2orf39	2	26667594	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1162264	26667594	216531779	163	7913										
C2orf53	339779	genome.wustl.edu	37	chr2	27361043	27361043	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacgacgggactgagtggaaGagaacggtggttgagaggga	20	4	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:27361043G>C	ENST00000335524.3	-	3	680	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		52	Pro-rich.							p.S52C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGTGGAAGAGAACGGTGG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											104	94	97					2																	27361043		2203	4300	6503	SO:0001583	missense	339779																														ENST00000335524.3:c.155C>G	2.37:g.27361043G>C	ENSP00000335017:p.Ser52Cys		Q86UE2	Missense_Mutation	SNP	NULL	p.S52C	ENST00000335524.3	37	c.155	CCDS1739.1	2	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862390	0.17178	.	.	ENSG00000186143	ENST00000335524	T	0.34472	1.36	3.77	2.88	0.33553	.	.	.	.	.	T	0.27134	0.0665	N	0.14661	0.345	0.09310	N	1	P	0.40250	0.709	P	0.45195	0.473	T	0.11012	-1.0605	9	0.44086	T	0.13	9.0E-4	9.1277	0.36826	0.2081:0.0:0.7919:0.0	.	52	Q53SZ7	CB053_HUMAN	C	52	ENSP00000335017:S52C	ENSP00000335017:S52C	S	-	2	0	C2orf53	27214547	0.022000	0.18835	0.003000	0.11579	0.009000	0.06853	1.745000	0.38278	0.194000	0.20326	-1.134000	0.01955	TCT	C2orf53	-	NULL		0.582	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf53	HGNC	protein_coding	OTTHUMT00000250188.1	G			27361043	-1	no_errors	ENST00000335524	ensembl	human	known	70_37	missense	SNP	0.003	C	C	27361043	G	C	27361043	3	2	58	1	0	0	0	0	1	0	0	0	2179	942	33	1	1087	1	C2orf53	2	27361043	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	693449	27361043	215838330	164	7914										
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27886730	27886730	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacgtggacaggaacgtaaaGaccgaagggtgggtttcgaa	16	6	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:27886730G>C	ENST00000326019.6	+	1	393	c.111G>C	c.(109-111)aaG>aaC	p.K37N	SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	37						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K37N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGAACGTAAAGACCGAAGGGT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											131	123	126					2																	27886730		2203	4300	6503	SO:0001583	missense	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.111G>C	2.37:g.27886730G>C	ENSP00000323837:p.Lys37Asn		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K37N	ENST00000326019.6	37	c.111	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416448	0.25552	.	.	ENSG00000163798	ENST00000326019	T	0.30714	1.52	4.08	2.15	0.27550	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.24870	-1.0148	9	0.24483	T	0.36	.	5.065	0.14578	0.292:0.0:0.708:0.0	.	37	Q9BWU0	NADAP_HUMAN	N	37	ENSP00000323837:K37N	ENSP00000323837:K37N	K	+	3	2	SLC4A1AP	27740234	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	0.366000	0.20365	0.979000	0.38497	0.555000	0.69702	AAG	SLC4A1AP	-	NULL		0.577	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	G	NM_018158		27886730	1	no_errors	ENST00000326019	ensembl	human	known	70_37	missense	SNP	0.001	C	C	27886730	G	C	27886730	3	2	58	1	0	0	0	0	1	0	0	0	14683	933	33	1	113	1	SLC4A1AP	2	27886730	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	525687	27886730	215312643	165	7915										
PPP1CB	5500	genome.wustl.edu	37	chr2	29011673	29011673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atttgatttgtcgagctcatCaggtatgaaatataaaactc	7	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:29011673C>G	ENST00000395366.2	+	6	1014	c.742C>G	c.(742-744)Cag>Gag	p.Q248E	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.Q248E|PPP1CB_ENST00000296122.6_Missense_Mutation_p.Q248E	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	248					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)	p.Q248E(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCGAGCTCATCAGGTATGAAA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											86	81	83					2																	29011673		2203	4300	6503	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.742C>G	2.37:g.29011673C>G	ENSP00000378769:p.Gln248Glu		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.Q248E	ENST00000395366.2	37	c.742	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825703	0.90955	.	.	ENSG00000213639	ENST00000358506;ENST00000296122;ENST00000395366	T;T;T	0.80653	-1.4;-1.4;-1.4	5.48	5.48	0.80851	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.60455	1.87	0.80722	D	1	P	0.34522	0.455	B	0.32928	0.155	T	0.80913	-0.1170	10	0.87932	D	0	-9.763	19.7147	0.96110	0.0:1.0:0.0:0.0	.	248	P62140	PP1B_HUMAN	E	248	ENSP00000351298:Q248E;ENSP00000296122:Q248E;ENSP00000378769:Q248E	ENSP00000296122:Q248E	Q	+	1	0	PPP1CB	28865177	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.776000	0.85560	2.732000	0.93576	0.591000	0.81541	CAG	PPP1CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.398	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	HGNC	protein_coding	OTTHUMT00000324841.1	C			29011673	1	no_errors	ENST00000296122	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29011673	C	G	29011673	3	3	58	1	0	0	0	0	1	0	0	0	12377	827	29	1	764	1	PPP1CB	2	29011673	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1124943	29011673	214187700	166	7916										
SPDYA	245711	genome.wustl.edu	37	chr2	29063288	29063288	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggactcatacaactcactgtCaatggacataataggtgatc	8	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:29063288C>G	ENST00000334056.5	+	7	992	c.803C>G	c.(802-804)tCa>tGa	p.S268*	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Nonsense_Mutation_p.S268*	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A									p.S268*(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AACTCACTGTCAATGGACATA	0.373																																																	2	Substitution - Nonsense(2)	cervix(2)											94	93	93					2																	29063288		2203	4300	6503	SO:0001587	stop_gained	245711			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.803C>G	2.37:g.29063288C>G	ENSP00000335628:p.Ser268*			Nonsense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S268*	ENST00000334056.5	37	c.803	CCDS1767.2	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400666	0.62177	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.64	5.64	0.86602	.	1.790380	0.04578	U	0.394478	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.4211	15.533	0.75980	0.0:0.8624:0.1375:0.0	.	.	.	.	X	268	.	ENSP00000335628:S268X	S	+	2	0	SPDYA	28916792	0.237000	0.23815	0.017000	0.16124	0.035000	0.12851	3.599000	0.54045	2.812000	0.96745	0.557000	0.71058	TCA	SPDYA	-	NULL		0.373	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	HGNC	protein_coding	OTTHUMT00000157171.1	C	NM_182756		29063288	1	no_errors	ENST00000334056	ensembl	human	known	70_37	nonsense	SNP	0.018	G	G	29063288	C	G	29063288	4	3	58	1	0	0	0	0	0	1	0	0	15057	838	29	1	821	1	SPDYA	2	29063288	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	51615	29063288	214136085	167	7917										
GALNT14	79623	genome.wustl.edu	37	chr2	31152319	31152319	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtaatagtattgcttgtattCatccatccacacttcagctg	6	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:31152319C>G	ENST00000349752.5	-	11	1732	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	GALNT14_ENST00000356174.3_Missense_Mutation_p.E332Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.E345Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.E330Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.E370Q|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	365					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E365Q(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCTTGTATTCATCCATCCAC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											158	136	143					2																	31152319		2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1093G>C	2.37:g.31152319C>G	ENSP00000288988:p.Glu365Gln		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E365Q	ENST00000349752.5	37	c.1093	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	33	5.262111	0.95368	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	.	0.050170	0.85682	D	0.000000	T	0.81341	0.4802	M	0.87682	2.9	0.80722	D	1	D;P;D;P;P	0.53312	0.959;0.928;0.957;0.708;0.875	P;P;P;B;B	0.54238	0.746;0.603;0.494;0.326;0.28	D	0.84812	0.0791	10	0.66056	D	0.02	.	19.1205	0.93362	0.0:1.0:0.0:0.0	.	330;332;370;365;345	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	Q	365;370;345;332;330;332	ENSP00000288988:E365Q;ENSP00000314500:E370Q;ENSP00000385435:E345Q;ENSP00000348497:E332Q;ENSP00000415514:E330Q;ENSP00000406399:E332Q	ENSP00000314500:E370Q	E	-	1	0	GALNT14	31005823	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.758000	0.85224	2.584000	0.87258	0.561000	0.74099	GAA	GALNT14	-	NULL		0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	C	NM_024572		31152319	-1	no_errors	ENST00000349752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31152319	C	G	31152319	3	3	58	1	0	0	0	0	1	0	0	0	6231	835	29	1	585	1	GALNT14	2	31152319	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2089031	31152319	212047054	168	7918										
VIT	5212	genome.wustl.edu	37	chr2	36986229	36986229	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaatctaaaccttctgagtCcatgaacacgcgacgtgttt	8	10	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:36986229C>G	ENST00000389975.3	+	6	789				VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.S176C|VIT_ENST00000401530.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTTCTGAGTCCATGAACACG	0.468																																																	0													90	88	89					2																	36986229		2203	4300	6503	SO:0001627	intron_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+40C>G	2.37:g.36986229C>G			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.S176C	ENST00000389975.3	37	c.527	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159495	0.09236	.	.	ENSG00000205221	ENST00000457137	D	0.91295	-2.82	4.97	-1.16	0.09678	.	.	.	.	.	D	0.82277	0.5002	.	.	.	0.09310	N	1	P	0.34546	0.456	B	0.37346	0.247	T	0.70490	-0.4857	7	.	.	.	.	3.2096	0.06677	0.3062:0.1851:0.0:0.5087	.	176	Q6UXI7-3	.	C	176	ENSP00000393561:S176C	.	S	+	2	0	VIT	36839733	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.296000	0.08287	0.013000	0.14918	-0.474000	0.04947	TCC	VIT	-	NULL		0.468	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		C			36986229	1	no_errors	ENST00000457137	ensembl	human	known	70_37	missense	SNP	0.000	G	G	36986229	C	G	36986229	1	3	58	0	1	0	0	0	0	0	0	0	17202	855	30	1		1	VIT	2	36986229	Intron	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5833910	36986229	206213144	169	7919										
HEATR5B	54497	genome.wustl.edu	37	chr2	37306395	37306395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatttttagctaataattttCgtgtaggtggtccaggtgaa	11	4	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:37306395C>T	ENST00000233099.5	-	3	301	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R69Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	69						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R69Q(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAATAATTTTCGTGTAGGTGG	0.313																																																	1	Substitution - Missense(1)	cervix(1)											110	106	107					2																	37306395		2201	4299	6500	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.206G>A	2.37:g.37306395C>T	ENSP00000233099:p.Arg69Gln		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R69Q	ENST00000233099.5	37	c.206	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290838	0.80914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.72835	-0.69;-0.69	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87953	0.2725	10	0.87932	D	0	-12.7868	19.9434	0.97174	0.0:1.0:0.0:0.0	.	69	Q9P2D3	HTR5B_HUMAN	Q	69	ENSP00000233099:R69Q;ENSP00000346531:R69Q	ENSP00000233099:R69Q	R	-	2	0	HEATR5B	37159899	1.000000	0.71417	0.963000	0.40424	0.154000	0.21943	7.749000	0.85096	2.710000	0.92621	0.563000	0.77884	CGA	HEATR5B	-	superfamily_ARM-type_fold		0.313	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37306395	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	0.992	T	T	37306395	C	T	37306395	3	4	58	1	0	0	0	0	1	0	0	0	7052	884	31	1	6145	1	HEATR5B	2	37306395	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	320166	37306395	205892978	170	7920										
SOS1	6654	genome.wustl.edu	37	chr2	39222312	39222312	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcaaatacactgcaaacatCtgtggtactggaagcaccag	8	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:39222312C>G	ENST00000426016.1	-	21	3384	c.3298G>C	c.(3298-3300)Gat>Cat	p.D1100H	SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000402219.2_Missense_Mutation_p.D1100H|SOS1_ENST00000395038.2_Missense_Mutation_p.D1100H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1100					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1100H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTGCAAACATCTGTGGTACTG	0.423									Noonan syndrome																																								1	Substitution - Missense(1)	cervix(1)											131	116	121					2																	39222312		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3298G>C	2.37:g.39222312C>G	ENSP00000387784:p.Asp1100His		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D1100H	ENST00000426016.1	37	c.3298	CCDS1802.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.904815|4.904815	0.92035|0.92035	.|.	.|.	ENSG00000115904|ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038|ENST00000263879	T;T;T|.	0.78595|.	-1.01;-1.01;-1.19|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.051683|.	0.85682|.	D|.	0.000000|.	T|T	0.75332|0.75332	0.3835|0.3835	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.75714|0.75714	-0.3221|-0.3221	10|6	0.62326|0.87932	D|D	0.03|0	.|.	20.2963|20.2963	0.98556|0.98556	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1100|.	Q07889|.	SOS1_HUMAN|.	H|T	1100;1100;832;1100|1099	ENSP00000387784:D1100H;ENSP00000384675:D1100H;ENSP00000378479:D1100H|.	ENSP00000378479:D1100H|ENSP00000263879:R1099T	D|R	-|-	1|2	0|0	SOS1|SOS1	39075816|39075816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.133000|7.133000	0.77259|0.77259	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GAT|AGA	SOS1	-	NULL		0.423	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39222312	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39222312	C	G	39222312	3	3	58	1	0	0	0	0	1	0	0	0	14966	913	32	1	719	1	SOS1	2	39222312	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1915917	39222312	203977061	171	7921										
HAAO	23498	genome.wustl.edu	37	chr2	43010491	43010491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtctccagccgccttcgctCaaccaccagccccacggtgt	9	19	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:43010491C>T	ENST00000294973.6	-	4	368	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.E105K(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CGCCTTCGCTCAACCACCAGC	0.582																																																	1	Substitution - Missense(1)	cervix(1)											42	38	39					2																	43010491		2203	4300	6503	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.313G>A	2.37:g.43010491C>T	ENSP00000294973:p.Glu105Lys			Missense_Mutation	SNP	pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase	p.E105K	ENST00000294973.6	37	c.313	CCDS33187.1	2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778723	0.90195	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.44881	0.91;0.91	4.69	4.69	0.59074	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81167	-0.1056	10	0.87932	D	0	.	12.9987	0.58662	0.0:1.0:0.0:0.0	.	105	P46952	3HAO_HUMAN	K	105;71	ENSP00000294973:E105K;ENSP00000412601:E71K	ENSP00000294973:E105K	E	-	1	0	HAAO	42863995	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.685000	0.68204	2.457000	0.83068	0.460000	0.39030	GAG	HAAO	-	pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase		0.582	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAAO	HGNC	protein_coding	OTTHUMT00000325948.2	C			43010491	-1	no_errors	ENST00000294973	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43010491	C	T	43010491	3	4	58	1	0	0	0	0	1	0	0	0	6957	835	29	1	575	1	HAAO	2	43010491	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3788179	43010491	200188882	172	7922										
MSH2	4436	genome.wustl.edu	37	chr2	47705646	47705646	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaccttaactatgctttatCaggtgaagaaaggtatgtac	9	6	1	3	rs63749917		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:47705646C>T	ENST00000233146.2	+	14	2669	c.2446C>T	c.(2446-2448)Cag>Tag	p.Q816*	MSH2_ENST00000406134.1_Nonsense_Mutation_p.Q816*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.Q750*	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	816					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.Q816*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATGCTTTATCAGGTGAAGAA	0.373			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	5	Whole gene deletion(2)|Unknown(2)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(3)|cervix(1)|prostate(1)	GRCh37	CM052255	MSH2	M	rs63749917						122	117	119					2																	47705646		2203	4300	6503	SO:0001587	stop_gained	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2446C>T	2.37:g.47705646C>T	ENSP00000233146:p.Gln816*		B4E2Z2|O75488	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.Q816*	ENST00000233146.2	37	c.2446	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.266464	0.98175	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000413880	.	.	.	5.3	5.3	0.74995	.	0.248354	0.37136	N	0.002233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8457	17.1484	0.86772	0.0:1.0:0.0:0.0	rs63749917	.	.	.	X	816;750;816;602	.	ENSP00000233146:Q816X	Q	+	1	0	MSH2	47559150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.274000	0.51631	2.488000	0.83962	0.643000	0.83706	CAG	MSH2	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2		0.373	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	C			47705646	1	no_errors	ENST00000233146	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47705646	C	T	47705646	4	4	58	1	0	0	0	0	0	1	0	0	9893	827	29	1	2500	1	MSH2	2	47705646	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4695155	47705646	195493727	173	7923										
MSH6	2956	genome.wustl.edu	37	chr2	48026985	48026985	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgttctcttcaggaaggtctGatacccggctcccagttttg	10	11	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:48026985G>C	ENST00000234420.5	+	4	2015	c.1863G>C	c.(1861-1863)ctG>ctC	p.L621L	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.L491L|MSH6_ENST00000538136.1_Silent_p.L319L	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	621					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.L621L(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAAGGTCTGATACCCGGCT	0.398			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|cervix(1)											61	65	64					2																	48026985		2203	4300	6503	SO:0001819	synonymous_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1863G>C	2.37:g.48026985G>C			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.L621	ENST00000234420.5	37	c.1863	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6		0.398	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	G	NM_000179		48026985	1	no_errors	ENST00000234420	ensembl	human	known	70_37	silent	SNP	0.011	C	C	48026985	G	C	48026985	2	2	58	1	0	0	0	0	0	0	0	1	9897	1277	45	1		1	MSH6	2	48026985	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	321339	48026985	195172388	174	7924										
RAB11FIP5	26056	genome.wustl.edu	37	chr2	73315528	73315528	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggactttagcctgagcactCagctcctcctgtccaagcac	8	15	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:73315528C>G	ENST00000258098.6	-	3	1458	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	406					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.L406L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCTGAGCACTCAGCTCCTCCT	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											43	45	44					2																	73315528		2203	4300	6503	SO:0001819	synonymous_variant	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1218G>C	2.37:g.73315528C>G			O94939|Q9P0M1	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L406	ENST00000258098.6	37	c.1218	CCDS1923.1	2																																																																																			RAB11FIP5	-	NULL		0.657	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	C	NM_015470		73315528	-1	no_errors	ENST00000258098	ensembl	human	known	70_37	silent	SNP	0.293	G	G	73315528	C	G	73315528	2	3	58	1	0	0	0	0	0	0	0	1	12927	813	29	1		1	RAB11FIP5	2	73315528	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	25288543	73315528	169883845	175	7925										
CCT7	10574	genome.wustl.edu	37	chr2	73479988	73479988	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggtcgtggccgcccccactGagaggcaccccacccatcac	10	19	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:73479988G>A	ENST00000258091.5	+	12	1772	c.1631G>A	c.(1630-1632)tGa>tAa	p.*544*	CCT7_ENST00000537131.1_Silent_p.*444*|CCT7_ENST00000538797.1_Silent_p.*416*|CCT7_ENST00000539919.1_Silent_p.*500*|CCT7_ENST00000398422.2_Silent_p.*340*|CCT7_ENST00000540468.1_Silent_p.*457*	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	0					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.*340*(1)|p.*544*(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGCCCCCACTGAGAGGCACCC	0.597																																																	2	Substitution - coding silent(2)	cervix(2)											16	18	17					2																	73479988		1963	4135	6098	SO:0001819	synonymous_variant	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1631G>A	2.37:g.73479988G>A			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.*544	ENST00000258091.5	37	c.1631	CCDS46336.1	2																																																																																			CCT7	-	NULL		0.597	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	G			73479988	1	no_errors	ENST00000258091	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73479988	G	A	73479988	2	1	58	1	0	0	0	0	0	0	0	1	2964	1285	45	1		1	CCT7	2	73479988	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	164460	73479988	169719385	176	7926										
DCTN1	1639	genome.wustl.edu	37	chr2	74598150	74598150	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcaggtcggcctgctgctCctgcattttgctcttccatt	9	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:74598150C>G	ENST00000361874.3	-	9	1116	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	DCTN1_ENST00000409868.1_Missense_Mutation_p.E250Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.E247Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.E133Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.E230Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.E260Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.E133Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	267					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.E267Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCCTGCTGCTCCTGCATTTTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											210	221	217					2																	74598150		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.799G>C	2.37:g.74598150C>G	ENSP00000354791:p.Glu267Gln		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.E267Q	ENST00000361874.3	37	c.799	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951547	0.92660	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.80123	-0.92;-1.12;-0.88;-0.88;-1.34;-1.12;-1.12	5.51	5.51	0.81932	.	0.000000	0.43579	D	0.000549	D	0.88894	0.6561	M	0.66378	2.025	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.999;0.849;0.999;1.0;0.906	D;D;B;D;D;P	0.79108	0.972;0.956;0.378;0.986;0.992;0.582	D	0.89160	0.3529	10	0.59425	D	0.04	-12.3531	18.1828	0.89783	0.0:1.0:0.0:0.0	.	247;230;267;260;133;133	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Q	267;260;250;133;133;230;250;247	ENSP00000354791:E267Q;ENSP00000377571:E260Q;ENSP00000384844:E133Q;ENSP00000387270:E133Q;ENSP00000386406:E230Q;ENSP00000387327:E250Q;ENSP00000386843:E247Q	ENSP00000354791:E267Q	E	-	1	0	DCTN1	74451658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.766000	0.85320	2.581000	0.87130	0.655000	0.94253	GAG	DCTN1	-	NULL		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	C	NM_004082		74598150	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74598150	C	G	74598150	3	3	58	1	0	0	0	0	1	0	0	0	4311	864	30	1	3133	1	DCTN1	2	74598150	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1118162	74598150	168601223	177	7927										
MRPL35	51318	genome.wustl.edu	37	chr2	86426645	86426645	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcctttgctggtgcagtgaGagcagcttcaggtcagtgga	15	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:86426645G>A	ENST00000337109.4	+	1	66	c.32G>A	c.(31-33)aGa>aAa	p.R11K	MRPL35_ENST00000254644.8_Missense_Mutation_p.R11K|MRPL35_ENST00000605125.1_Missense_Mutation_p.R11K|MRPL35_ENST00000409180.1_Missense_Mutation_p.R11K	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	11					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.R11K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGTGCAGTGAGAGCAGCTTCA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											71	66	68					2																	86426645		2203	4300	6503	SO:0001583	missense	51318			AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"Mitochondrial ribosomal proteins / large subunits"	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.32G>A	2.37:g.86426645G>A	ENSP00000338389:p.Arg11Lys		A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	pfam_Ribosomal_L35	p.R11K	ENST00000337109.4	37	c.32	CCDS1988.1	2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866701	0.32977	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.15372	2.44;2.69;2.43	4.03	2.25	0.28309	.	0.735372	0.13395	N	0.391097	T	0.13157	0.0319	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.41790	T	0.15	-11.4477	6.5052	0.22192	0.218:0.0:0.782:0.0	.	11	Q9NZE8	RM35_HUMAN	K	11	ENSP00000254644:R11K;ENSP00000338389:R11K;ENSP00000386255:R11K	ENSP00000254644:R11K	R	+	2	0	MRPL35	86280156	0.031000	0.19500	0.060000	0.19600	0.015000	0.08874	0.639000	0.24690	0.678000	0.31325	-0.137000	0.14449	AGA	MRPL35	-	NULL		0.532	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL35	HGNC	protein_coding	OTTHUMT00000091002.2	G	NM_016622		86426645	1	no_errors	ENST00000337109	ensembl	human	known	70_37	missense	SNP	0.066	A	A	86426645	G	A	86426645	3	1	58	1	0	0	0	0	1	0	0	0	9821	942	33	1	34	1	MRPL35	2	86426645	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	11828495	86426645	156772728	178	7928										
PROM2	150696	genome.wustl.edu	37	chr2	95940548	95940548	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caccgtgcgccgcttcctctCggtggtgcagctcaatcctt	10	16	2	0	rs375545886		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:95940548C>G	ENST00000317620.9	+	1	348	c.215C>G	c.(214-216)tCg>tGg	p.S72W	PROM2_ENST00000542147.1_Missense_Mutation_p.S72W|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.S72W|PROM2_ENST00000403131.2_Missense_Mutation_p.S72W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	72					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.S72W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGCTTCCTCTCGGTGGTGCAG	0.652																																																	1	Substitution - Missense(1)	cervix(1)											84	92	90					2																	95940548		2203	4300	6503	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.215C>G	2.37:g.95940548C>G	ENSP00000318270:p.Ser72Trp		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.S72W	ENST00000317620.9	37	c.215	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837040	0.32421	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.94	3.97	0.46021	.	0.573059	0.16472	N	0.212943	T	0.56659	0.2000	M	0.68317	2.08	0.40309	D	0.978694	D	0.69078	0.997	D	0.64410	0.925	T	0.57866	-0.7737	10	0.52906	T	0.07	-18.0663	8.8807	0.35374	0.2833:0.7167:0.0:0.0	.	72	Q8N271	PROM2_HUMAN	W	72	ENSP00000385716:S72W;ENSP00000318520:S72W;ENSP00000318270:S72W;ENSP00000442542:S72W	ENSP00000318270:S72W	S	+	2	0	PROM2	95304275	0.986000	0.35501	0.789000	0.31954	0.100000	0.18952	3.001000	0.49488	2.303000	0.77524	0.491000	0.48974	TCG	PROM2	-	pfam_Prominin		0.652	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95940548	1	no_errors	ENST00000317620	ensembl	human	known	70_37	missense	SNP	0.544	G	G	95940548	C	G	95940548	3	3	58	1	0	0	0	0	1	0	0	0	12583	893	31	1	217	1	PROM2	2	95940548	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9513903	95940548	147258825	179	7929										
FAHD2A	51011	genome.wustl.edu	37	chr2	96076738	96076738	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccttcgacaccttctgccctCtgggccctgccttggtgacc	9	18	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:96076738C>G	ENST00000233379.4	+	5	802	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V	FAHD2A_ENST00000447036.1_Missense_Mutation_p.L217V	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	217							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L217V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CTTCTGCCCTCTGGGCCCTGC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											120	100	107					2																	96076738		2203	4300	6503	SO:0001583	missense	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.649C>G	2.37:g.96076738C>G	ENSP00000233379:p.Leu217Val		Q9Y3B0	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.L217V	ENST00000233379.4	37	c.649	CCDS2014.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231658	0.79688	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95035	-3.59;-3.59	3.13	3.13	0.36017	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.079030	0.52532	D	0.000079	D	0.95037	0.8393	L	0.51914	1.62	0.43608	D	0.995978	D	0.62365	0.991	D	0.68765	0.96	D	0.93958	0.7238	10	0.48119	T	0.1	.	9.8892	0.41279	0.0:1.0:0.0:0.0	.	217	Q96GK7	FAH2A_HUMAN	V	217	ENSP00000406424:L217V;ENSP00000233379:L217V	ENSP00000233379:L217V	L	+	1	2	FAHD2A	95440465	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	1.427000	0.34881	1.737000	0.51674	0.561000	0.74099	CTG	FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel		0.562	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	C	NM_016044		96076738	1	no_errors	ENST00000233379	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96076738	C	G	96076738	3	3	58	1	0	0	0	0	1	0	0	0	5388	912	32	1	663	1	FAHD2A	2	96076738	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	136190	96076738	147122635	180	7930										
SLC9A4	389015	genome.wustl.edu	37	chr2	103149013	103149013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacctctgtttcatgcagtgGatgaggagggtgagtctgga	15	6	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:103149013G>T	ENST00000295269.4	+	12	2720	c.2263G>T	c.(2263-2265)Gat>Tat	p.D755Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	755					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.D755Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCATGCAGTGGATGAGGAGGG	0.537																																																	1	Substitution - Missense(1)	cervix(1)											96	61	73					2																	103149013		2203	4300	6503	SO:0001583	missense	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2263G>T	2.37:g.103149013G>T	ENSP00000295269:p.Asp755Tyr		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.D755Y	ENST00000295269.4	37	c.2263	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830912	0.32329	.	.	ENSG00000180251	ENST00000295269	T	0.53423	0.62	5.31	2.46	0.29980	.	0.266108	0.34603	N	0.003834	T	0.31358	0.0794	L	0.32530	0.975	0.09310	N	1	P	0.44090	0.826	B	0.41723	0.365	T	0.23226	-1.0194	10	0.56958	D	0.05	.	2.1832	0.03879	0.1714:0.1551:0.5134:0.1601	.	755	Q6AI14	SL9A4_HUMAN	Y	755	ENSP00000295269:D755Y	ENSP00000295269:D755Y	D	+	1	0	SLC9A4	102515445	0.003000	0.15002	0.014000	0.15608	0.297000	0.27493	0.016000	0.13377	0.291000	0.22468	0.655000	0.94253	GAT	SLC9A4	-	NULL		0.537	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	G	NM_001011552.3		103149013	1	no_errors	ENST00000295269	ensembl	human	known	70_37	missense	SNP	0.040	T	T	103149013	G	T	103149013	3	4	58	1	0	0	0	0	1	0	0	0	14746	1174	41	3	2309	3	SLC9A4	2	103149013	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7072275	103149013	140050360	181	7931										
UXS1	80146	genome.wustl.edu	37	chr2	106782514	106782514	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtaattaaaaacaattacctCatattaacgaagttgcccca	4	9	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:106782514C>T	ENST00000409501.3	-	2	177	c.120G>A	c.(118-120)atG>atA	p.M40I	UXS1_ENST00000283148.7_Missense_Mutation_p.M40I|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_5'UTR			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	40					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.M40I(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ACAATTACCTCATATTAACGA	0.338																																																	2	Substitution - Missense(2)	cervix(2)											92	85	87					2																	106782514		1828	4075	5903	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.120G>A	2.37:g.106782514C>T	ENSP00000387019:p.Met40Ile		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.M40I	ENST00000409501.3	37	c.120	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937270	0.34189	.	.	ENSG00000115652	ENST00000283148;ENST00000409501	D;D	0.95885	-3.81;-3.84	5.06	4.16	0.48862	.	0.045885	0.85682	D	0.000000	D	0.89983	0.6873	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	D	0.85414	0.1139	10	0.33141	T	0.24	-4.46	9.9709	0.41754	0.0:0.9004:0.0:0.0995	.	40;40	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	I	40	ENSP00000283148:M40I;ENSP00000387019:M40I	ENSP00000283148:M40I	M	-	3	0	UXS1	106148946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.114000	0.41911	2.489000	0.83994	0.563000	0.77884	ATG	UXS1	-	pfam_UXS1_N		0.338	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	C	NM_025076.3		106782514	-1	no_errors	ENST00000283148	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106782514	C	T	106782514	3	4	58	1	0	0	0	0	1	0	0	0	17140	826	29	1	1198	1	UXS1	2	106782514	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3633501	106782514	136416859	182	7932										
ANAPC1	64682	genome.wustl.edu	37	chr2	112608391	112608391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagtttactaagaggctttgGagtactaacgccatctagtg	11	7	1	1	rs148969655	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:112608391G>C	ENST00000341068.3	-	14	2384	c.1612C>G	c.(1612-1614)Cca>Gca	p.P538A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	538					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.P538A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGAGGCTTTGGAGTACTAACG	0.433																																																	1	Substitution - Missense(1)	cervix(1)						G	ALA/PRO	5,4401	8.1+/-20.4	0,5,2198	104	102	103		1612	3.7	0.3	2	dbSNP_134	103	0,8600		0,0,4300	no	missense	ANAPC1	NM_022662.2	27	0,5,6498	CC,CG,GG		0.0,0.1135,0.0384	probably-damaging	538/1945	112608391	5,13001	2203	4300	6503	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1612C>G	2.37:g.112608391G>C	ENSP00000339109:p.Pro538Ala		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.P538A	ENST00000341068.3	37	c.1612	CCDS2093.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.983|0.983	-0.696326|-0.696326	0.03279|0.03279	0.001135|0.001135	0.0|0.0	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.68|3.68	0.42216|0.42216	.|.	0.134141|.	0.31450|.	N|.	0.007633|.	T|T	0.40015|0.40015	0.1100|0.1100	L|L	0.33792|0.33792	1.035|1.035	0.26701|0.26701	N|N	0.971151|0.971151	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.25152|0.25152	-1.0140|-1.0140	9|5	0.02654|.	T|.	1|.	-10.1988|-10.1988	14.5563|14.5563	0.68103|0.68103	0.0:0.1477:0.8523:0.0|0.0:0.1477:0.8523:0.0	.|.	538|.	Q9H1A4|.	APC1_HUMAN|.	A|C	538|72	.|.	ENSP00000339109:P538A|.	P|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112324862|112324862	1.000000|1.000000	0.71417|0.71417	0.320000|0.320000	0.25306|0.25306	0.136000|0.136000	0.21042|0.21042	4.720000|4.720000	0.61944|0.61944	0.898000|0.898000	0.36418|0.36418	0.449000|0.449000	0.29647|0.29647	CCA|TCC	ANAPC1	-	NULL		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	G	NM_022662		112608391	-1	no_errors	ENST00000341068	ensembl	human	known	70_37	missense	SNP	0.994	C	C	112608391	G	C	112608391	3	2	58	1	0	0	0	0	1	0	0	0	598	1174	41	1	4362	1	ANAPC1	2	112608391	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5825877	112608391	130590982	183	7933										
RGPD5	727851	genome.wustl.edu	37	chr2	113147114	113147114	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtttggcatcaccatcagaGaaatcactggctgaccacat	8	11	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:113147114G>A	ENST00000302558.3	-	20	3599	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	RGPD8_ENST00000409750.1_Silent_p.F996F	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1136	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CACCATCAGAGAAATCACTGG	0.448																																																	0													15	13	13					2																	113147114		691	1577	2268	SO:0001819	synonymous_variant	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3408C>T	2.37:g.113147114G>A			Q5CZA8	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.F1136	ENST00000302558.3	37	c.3408	CCDS46394.1	2																																																																																			RGPD8	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.448	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	G	XM_001722279		113147114	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113147114	G	A	113147114	2	1	58	1	0	0	0	0	0	0	0	1	13319	933	33	1		1	RGPD5	2	113147114	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	538723	113147114	130052259	184	7934										
SLC20A1	6574	genome.wustl.edu	37	chr2	113416402	113416402	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accccccttttttttcctagGagaaataaagtgtagtcctt	6	10	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:113416402G>A	ENST00000272542.3	+	7	1318	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	260					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R260Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTTTTCCTAGGAGAAATAAAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											53	64	60					2																	113416402		2202	4299	6501	SO:0001630	splice_region_variant	6574				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.779-1G>A	2.37:g.113416402G>A			Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	pfam_Phos_transporter	p.R260Q	ENST00000272542.3	37	c.779	CCDS2099.1	2	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655728	0.29425	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90504	-2.68	5.9	5.9	0.94986	.	0.193943	0.46442	D	0.000288	D	0.88962	0.6580	L	0.46157	1.445	0.58432	D	0.999994	B;B	0.19200	0.034;0.034	B;B	0.25759	0.063;0.063	D	0.84650	0.0700	10	0.56958	D	0.05	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	260;260	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	Q	260;72	ENSP00000272542:R260Q	ENSP00000272542:R260Q	R	+	2	0	SLC20A1	113132873	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.028000	0.70889	2.806000	0.96561	0.655000	0.94253	CGA	SLC20A1	-	pfam_Phos_transporter		0.388	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	HGNC	protein_coding	OTTHUMT00000254086.2	G	NM_005415	Missense_Mutation	113416402	1	no_errors	ENST00000272542	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113416402	G	A	113416402	5	1	58	1	0	0	0	0	0	0	1	0	14468	1188	41	1	801	1	SLC20A1	2	113416402	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	269288	113416402	129782971	185	7935										
IL1F7	27178	genome.wustl.edu	37	chr2	113676372	113676372	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagctgaaatgagccccagtGaggtcagcgattaggaaact	12	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:113676372G>A	ENST00000263326.3	+	5	685	c.643G>A	c.(643-645)Gag>Aag	p.E215K	IL37_ENST00000349806.3_Missense_Mutation_p.E154K|IL37_ENST00000311328.2_Missense_Mutation_p.E189K|IL37_ENST00000352179.3_Missense_Mutation_p.E194K|IL37_ENST00000353225.3_Missense_Mutation_p.E175K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	215					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.E189K(1)|p.E215K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GAGCCCCAGTGAGGTCAGCGA	0.403																																																	2	Substitution - Missense(2)	cervix(2)											62	66	64					2																	113676372		2203	4300	6503	SO:0001583	missense	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.643G>A	2.37:g.113676372G>A	ENSP00000263326:p.Glu215Lys		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	p.E215K	ENST00000263326.3	37	c.643	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	g	16.18	3.051024	0.55218	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.21543	2.5;2.61;2.02;2.0;2.37	3.7	0.803	0.18691	.	1.068200	0.07417	N	0.893308	T	0.32346	0.0826	L	0.47716	1.5	0.09310	N	1	D;B;D;D;D	0.71674	0.99;0.007;0.998;0.998;0.996	P;B;P;P;P	0.60609	0.634;0.013;0.877;0.828;0.677	T	0.19257	-1.0311	10	0.66056	D	0.02	0.2636	5.8515	0.18696	0.3639:0.0:0.6361:0.0	.	189;154;175;194;215	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	K	215;194;154;175;189	ENSP00000263326:E215K;ENSP00000263327:E194K;ENSP00000263328:E154K;ENSP00000309208:E175K;ENSP00000309883:E189K	ENSP00000263326:E215K	E	+	1	0	IL37	113392843	0.002000	0.14202	0.000000	0.03702	0.240000	0.25518	0.360000	0.20250	0.040000	0.15660	0.556000	0.70494	GAG	IL37	-	NULL		0.403	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	G	NM_014439		113676372	1	no_errors	ENST00000263326	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113676372	G	A	113676372	3	1	58	1	0	0	0	0	1	0	0	0	7675	1291	45	1	732	1	IL1F7	2	113676372	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	259970	113676372	129523001	186	7936										
MARCO	8685	genome.wustl.edu	37	chr2	119731963	119731963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggtgcccctggcccgccggGaccacctgctgagaagggag	16	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:119731963G>A	ENST00000327097.4	+	5	650	c.515G>A	c.(514-516)gGa>gAa	p.G172E	MARCO_ENST00000541757.1_Missense_Mutation_p.G94E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	172	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.G172E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCCGCCGGGACCACCTGCT	0.562																																					GBM(8;18 374 7467 11269 32796)												1	Substitution - Missense(1)	cervix(1)											74	77	76					2																	119731963		2202	4300	6502	SO:0001583	missense	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.515G>A	2.37:g.119731963G>A	ENSP00000318916:p.Gly172Glu		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.G172E	ENST00000327097.4	37	c.515	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	7.313	0.615411	0.14129	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99619	-6.28;-6.28	3.89	2.04	0.26737	.	0.262756	0.30020	N	0.010620	D	0.99545	0.9837	H	0.96365	3.81	0.09310	N	1	D	0.58620	0.983	P	0.60415	0.874	D	0.99201	1.0873	9	.	.	.	.	4.7515	0.13063	0.1135:0.0:0.6741:0.2124	.	172	Q9UEW3	MARCO_HUMAN	E	172;172;94	ENSP00000318916:G172E;ENSP00000441769:G94E	.	G	+	2	0	MARCO	119448433	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.535000	0.23114	0.404000	0.25506	0.561000	0.74099	GGA	MARCO	-	pfam_Collagen		0.562	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	G	NM_006770		119731963	1	no_errors	ENST00000327097	ensembl	human	known	70_37	missense	SNP	0.001	A	A	119731963	G	A	119731963	3	1	58	1	0	0	0	0	1	0	0	0	9334	1174	41	1	533	1	MARCO	2	119731963	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6055591	119731963	123467410	187	7937										
CLASP1	23332	genome.wustl.edu	37	chr2	122176241	122176241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggcttgtatctcggctgctCtcacggctggtatcgcggct	14	12	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:122176241C>G	ENST00000263710.4	-	23	2666	c.2277G>C	c.(2275-2277)gaG>gaC	p.E759D	CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000545861.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	759	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				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.E759D(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)					CTCGGCTGCTCTCACGGCTGG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											74	84	81					2																	122176241		2084	4200	6284	SO:0001583	missense	23332			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.2277G>C	2.37:g.122176241C>G	ENSP00000263710:p.Glu759Asp		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E759D	ENST00000263710.4	37	c.2277		2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536485	0.85812	.	.	ENSG00000074054	ENST00000263710	T	0.20463	2.07	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.36672	1.1	0.80722	D	1	D	0.59767	0.986	P	0.46685	0.524	T	0.00456	-1.1728	10	0.66056	D	0.02	-15.899	13.4322	0.61062	0.0:0.9286:0.0:0.0714	.	759	Q7Z460	CLAP1_HUMAN	D	759	ENSP00000263710:E759D	ENSP00000263710:E759D	E	-	3	2	CLASP1	121892711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.050000	0.49877	2.789000	0.95967	0.591000	0.81541	GAG	CLASP1	-	superfamily_ARM-type_fold		0.587	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122176241	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122176241	C	G	122176241	3	3	58	1	0	0	0	0	1	0	0	0	3459	912	32	1	2435	1	CLASP1	2	122176241	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2444278	122176241	121023132	188	7938										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125281973	125281973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggatgatgaagcagcaccccCggctccagacagcacttggg	13	13	0	3	rs528479875		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:125281973C>A	ENST00000431078.1	+	9	1782	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	473	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P473Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGCACCCCCGGCTCCAGAC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											57	60	59					2																	125281973		1988	4195	6183	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1418C>A	2.37:g.125281973C>A	ENSP00000399013:p.Pro473Gln		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P473Q	ENST00000431078.1	37	c.1418	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500186	0.26861	.	.	ENSG00000155052	ENST00000431078	T	0.80824	-1.42	5.95	3.23	0.37069	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.431347	0.19497	N	0.112837	T	0.79251	0.4414	N	0.25647	0.755	0.29628	N	0.845654	D	0.57571	0.98	P	0.62298	0.9	T	0.71672	-0.4522	10	0.27785	T	0.31	.	9.7473	0.40455	0.0:0.7818:0.0:0.2182	.	473	Q8WYK1	CNTP5_HUMAN	Q	473	ENSP00000399013:P473Q	ENSP00000399013:P473Q	P	+	2	0	CNTNAP5	124998443	0.734000	0.28142	0.151000	0.22473	0.004000	0.04260	2.370000	0.44240	0.432000	0.26286	0.655000	0.94253	CCG	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	C			125281973	1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	0.423	A	A	125281973	C	A	125281973	3	1	58	1	0	0	0	0	1	0	0	0	3655	652	23	2	1452	2	CNTNAP5	2	125281973	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3105732	125281973	117917400	189	7939										
ARHGEF4	50649	genome.wustl.edu	37	chr2	131798860	131798860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accaccccaacgcctgcgtgGagctctcccggctcaccaag	9	19	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:131798860G>A	ENST00000326016.5	+	9	1681	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E317K|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E328K|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E388K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E388K|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	388	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.E388K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGCCTGCGTGGAGCTCTCCCG	0.577																																																	1	Substitution - Missense(1)	cervix(1)											116	110	112					2																	131798860		2203	4300	6503	SO:0001583	missense	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1162G>A	2.37:g.131798860G>A	ENSP00000316845:p.Glu388Lys		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E388K	ENST00000326016.5	37	c.1162	CCDS2165.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.165701|5.165701	0.94768|0.94768	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02;-0.02|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Dbl homology (DH) domain (5);|.	0.056964|.	0.64402|.	D|.	0.000001|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.76328|0.76328	2.33|2.33	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.61080|.	0.971;0.963;0.989|.	P;P;D|.	0.65010|.	0.893;0.829;0.931|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.52906|.	T|.	0.07|.	.|.	16.2024|16.2024	0.82095|0.82095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	328;388;388|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	K|E	388;388;388;328;317|4	ENSP00000316845:E388K;ENSP00000376680:E388K;ENSP00000432267:E388K;ENSP00000387285:E328K;ENSP00000348017:E317K|.	ENSP00000316845:E388K|.	E|G	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131515330|131515330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.564000|5.564000	0.67359|0.67359	2.415000|2.415000	0.81967|0.81967	0.561000|0.561000	0.74099|0.74099	GAG|GGA	ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.577	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	G			131798860	1	no_errors	ENST00000326016	ensembl	human	known	70_37	missense	SNP	0.999	A	A	131798860	G	A	131798860	3	1	58	1	0	0	0	0	1	0	0	0	908	1175	41	1	1188	1	ARHGEF4	2	131798860	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6516887	131798860	111400513	190	7940										
ZEB2	9839	genome.wustl.edu	37	chr2	145147260	145147260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcgtgctccttctcgctctCgccatccctcggcatactct	6	19	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:145147260C>T	ENST00000558170.2	-	10	4587	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	ZEB2_ENST00000409487.3_Missense_Mutation_p.E1135K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1111K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1135K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1135	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1135K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCTCGCTCTCGCCATCCCTC	0.587																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	cervix(1)											176	147	157					2																	145147260		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3403G>A	2.37:g.145147260C>T	ENSP00000454157:p.Glu1135Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1135K	ENST00000558170.2	37	c.3403	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763400	0.69763	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14266	2.54;2.52;2.52	5.51	5.51	0.81932	.	0.262720	0.41712	D	0.000838	T	0.09202	0.0227	N	0.08118	0	0.40004	D	0.975209	B;B;B	0.30482	0.281;0.185;0.185	B;B;B	0.26770	0.073;0.033;0.033	T	0.31696	-0.9934	10	0.37606	T	0.19	-0.7154	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1111;1134;1135	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1111;1135;1135	ENSP00000443792:E1111K;ENSP00000302501:E1135K;ENSP00000386854:E1135K	ENSP00000302501:E1135K	E	-	1	0	ZEB2	144863730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL		0.587	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147260	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145147260	C	T	145147260	3	4	58	1	0	0	0	0	1	0	0	0	17654	893	31	1	245	1	ZEB2	2	145147260	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	13348400	145147260	98052113	191	7941										
ORC4L	5000	genome.wustl.edu	37	chr2	148710052	148710052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgagcaaaaagatcaaattCatctaatatgaagatcactg	6	6	4	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:148710052C>T	ENST00000392857.5	-	8	585	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	ORC4_ENST00000392858.1_Missense_Mutation_p.E160K|ORC4_ENST00000540442.1_Missense_Mutation_p.E86K|ORC4_ENST00000542387.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.E160K|ORC4_ENST00000535373.1_Missense_Mutation_p.E160K|ORC4_ENST00000536575.1_Missense_Mutation_p.E76K	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	160					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.E160K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						AGATCAAATTCATCTAATATG	0.333																																																	1	Substitution - Missense(1)	cervix(1)											99	105	103					2																	148710052		2203	4300	6503	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.478G>A	2.37:g.148710052C>T	ENSP00000376597:p.Glu160Lys		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	p.E160K	ENST00000392857.5	37	c.478	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.778786	0.96929	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.94	5.94	0.96194	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047907	0.85682	N	0.000000	D	0.91466	0.7306	H	0.97564	4.03	0.80722	D	1	D;D;D	0.76494	0.999;0.982;0.999	D;P;D	0.66602	0.945;0.82;0.921	D	0.93548	0.6884	10	0.72032	D	0.01	-10.2798	20.369	0.98888	0.0:1.0:0.0:0.0	.	160;160;160	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	K	160;160;160;86;76;160	ENSP00000264169:E160K;ENSP00000441953:E160K;ENSP00000376598:E160K;ENSP00000438326:E86K;ENSP00000441502:E76K;ENSP00000376597:E160K	ENSP00000264169:E160K	E	-	1	0	ORC4	148426522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.819000	0.97034	0.650000	0.86243	GAA	ORC4	-	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4		0.333	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3	C	NM_181742		148710052	-1	no_errors	ENST00000264169	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148710052	C	T	148710052	3	4	58	1	0	0	0	0	1	0	0	0	11288	835	29	1	860	1	ORC4L	2	148710052	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3562792	148710052	94489321	192	7942										
TANC1	85461	genome.wustl.edu	37	chr2	160086183	160086183	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctggcccgcgtagaagagGagtgcaaacaactccagagg	13	10	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:160086183G>C	ENST00000263635.6	+	27	4483	c.4246G>C	c.(4246-4248)Gag>Cag	p.E1416Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E1310Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1416					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.E1416Q(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CGTAGAAGAGGAGTGCAAACA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											49	57	54					2																	160086183		2021	4176	6197	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4246G>C	2.37:g.160086183G>C	ENSP00000263635:p.Glu1416Gln		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1416Q	ENST00000263635.6	37	c.4246	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.088147	0.94100	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.73897	-0.79;-0.79	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83850	0.0262	9	.	.	.	.	20.3125	0.98645	0.0:0.0:1.0:0.0	.	1416	Q9C0D5	TANC1_HUMAN	Q	1310;1416	ENSP00000396339:E1310Q;ENSP00000263635:E1416Q	.	E	+	1	0	TANC1	159794429	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.824000	0.99380	2.806000	0.96561	0.655000	0.94253	GAG	TANC1	-	NULL		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160086183	1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160086183	G	C	160086183	3	2	58	1	0	0	0	0	1	0	0	0	15574	1175	41	1	4349	1	TANC1	2	160086183	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	11376131	160086183	83113190	193	7943										
TANC1	85461	genome.wustl.edu	37	chr2	160086255	160086255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagctccactcaacgactccGagaacgaagaggacacccca	8	16	1	2	rs200295160		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:160086255G>A	ENST00000263635.6	+	27	4555	c.4318G>A	c.(4318-4320)Gag>Aag	p.E1440K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1334K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1440					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.E1440K(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACGACTCCGAGAACGAAGA	0.542																																																	1	Substitution - Missense(1)	cervix(1)						G	,LYS/GLU	1,4049		0,1,2024	84	97	93		,4318	5	0.2	2		93	0,8350		0,0,4175	yes	utr-3,missense	TANC1	NM_001145909.1,NM_033394.2	,56	0,1,6199	AA,AG,GG		0.0,0.0247,0.0081	,benign	,1440/1862	160086255	1,12399	2025	4175	6200	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4318G>A	2.37:g.160086255G>A	ENSP00000263635:p.Glu1440Lys		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1440K	ENST00000263635.6	37	c.4318	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495326	0.26774	2.47E-4	0.0	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70164	-0.46;-0.46	5.92	5.04	0.67666	.	0.242234	0.41823	D	0.000806	T	0.46521	0.1397	N	0.08118	0	0.28200	N	0.927395	B	0.21688	0.059	B	0.14023	0.01	T	0.21415	-1.0246	9	.	.	.	.	16.524	0.84326	0.0:0.0:0.8681:0.1319	.	1440	Q9C0D5	TANC1_HUMAN	K	1334;1440	ENSP00000396339:E1334K;ENSP00000263635:E1440K	.	E	+	1	0	TANC1	159794501	1.000000	0.71417	0.219000	0.23793	0.088000	0.18126	7.726000	0.84824	1.497000	0.48584	0.655000	0.94253	GAG	TANC1	-	NULL		0.542	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160086255	1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	0.992	A	A	160086255	G	A	160086255	3	1	58	1	0	0	0	0	1	0	0	0	15574	1059	37	1	4421	1	TANC1	2	160086255	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	72	160086255	83113118	194	7944										
BAZ2B	29994	genome.wustl.edu	37	chr2	160193581	160193581	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagccctggagcaatatcctCttcaattctgcattgaaata	7	10	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:160193581C>G	ENST00000392783.2	-	33	6163	c.5668G>C	c.(5668-5670)Gag>Cag	p.E1890Q	BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1790Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1854Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1856Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1890					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1890Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCAATATCCTCTTCAATTCTG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											116	109	112					2																	160193581		1860	4105	5965	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5668G>C	2.37:g.160193581C>G	ENSP00000376534:p.Glu1890Gln		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1890Q	ENST00000392783.2	37	c.5668	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457495	0.43634	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.60299	0.27;0.27;0.28;0.2	5.71	5.71	0.89125	.	0.000000	0.37348	U	0.002124	T	0.74997	0.3790	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.69142	0.892;0.962	T	0.71935	-0.4442	10	0.41790	T	0.15	-14.4634	20.2245	0.98337	0.0:1.0:0.0:0.0	.	1854;1890	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	Q	1854;1890;1856;1790;143	ENSP00000376533:E1854Q;ENSP00000376534:E1890Q;ENSP00000348087:E1856Q;ENSP00000339670:E1790Q	ENSP00000339670:E1790Q	E	-	1	0	BAZ2B	159901827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.861000	0.98227	0.650000	0.86243	GAG	BAZ2B	-	NULL		0.418	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160193581	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	G	G	160193581	C	G	160193581	3	3	58	1	0	0	0	0	1	0	0	0	1333	922	32	1	858	1	BAZ2B	2	160193581	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	107326	160193581	83005792	195	7945										
COBLL1	22837	genome.wustl.edu	37	chr2	165578671	165578671	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggtcttgggggacactctGagatgctggcatcgggggca	17	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:165578671G>A	ENST00000392717.2	-	7	1028	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	COBLL1_ENST00000375458.2_Nonsense_Mutation_p.Q304*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q370*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q342*|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q304*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	342						extracellular vesicular exosome (GO:0070062)		p.Q304*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGGACACTCTGAGATGCTGGC	0.512																																																	1	Substitution - Nonsense(1)	cervix(1)											70	73	72					2																	165578671		2203	4300	6503	SO:0001587	stop_gained	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1024C>T	2.37:g.165578671G>A	ENSP00000376478:p.Gln342*		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.Q370*	ENST00000392717.2	37	c.1108		2	.	.	.	.	.	.	.	.	.	.	G	34	5.296807	0.95574	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	5.25	0.73442	.	0.116668	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-4.8497	17.0967	0.86637	0.0:0.1264:0.8736:0.0	.	.	.	.	X	304;304;342;342;370	.	ENSP00000194871:Q370X	Q	-	1	0	COBLL1	165286917	1.000000	0.71417	0.982000	0.44146	0.069000	0.16628	6.172000	0.71932	2.941000	0.99782	0.655000	0.94253	CAG	COBLL1	-	pfam_Cordon-bleu_domain		0.512	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		G	NM_014900		165578671	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	165578671	G	A	165578671	4	1	58	1	0	0	0	0	0	1	0	0	3659	1299	45	1	2626	1	COBLL1	2	165578671	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5385090	165578671	77620702	196	7946										
XIRP2	129446	genome.wustl.edu	37	chr2	168108178	168108178	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctcaggcatggatgcatttGagagtcaaattgttgagtcg	12	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:168108178G>A	ENST00000409195.1	+	9	10365	c.10276G>A	c.(10276-10278)Gag>Aag	p.E3426K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3204K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3426K|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3251					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3426K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGATGCATTTGAGAGTCAAAT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											73	72	72					2																	168108178		1896	4110	6006	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10276G>A	2.37:g.168108178G>A	ENSP00000386840:p.Glu3426Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.E3426K	ENST00000409195.1	37	c.10276	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676041	0.47886	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03124	4.05;4.05;4.04	6.16	5.28	0.74379	.	0.336851	0.34435	N	0.003971	T	0.09113	0.0225	L	0.59436	1.845	0.41456	D	0.98801	P;P;P	0.49559	0.877;0.925;0.775	B;P;B	0.47162	0.339;0.54;0.436	T	0.02766	-1.1113	10	0.62326	D	0.03	-8.2528	16.629	0.85011	0.0:0.1302:0.8698:0.0	.	3251;3251;3204	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3426;3426;3204;840	ENSP00000386840:E3426K;ENSP00000295237:E3426K;ENSP00000387255:E3204K	ENSP00000295237:E3426K	E	+	1	0	XIRP2	167816424	1.000000	0.71417	0.120000	0.21714	0.569000	0.35902	6.195000	0.72088	1.613000	0.50231	-0.172000	0.13284	GAG	XIRP2	-	NULL		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168108178	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.983	A	A	168108178	G	A	168108178	3	1	58	1	0	0	0	0	1	0	0	0	17461	1291	45	1	10306	1	XIRP2	2	168108178	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2529507	168108178	75091195	197	7947										
LRP2	4036	genome.wustl.edu	37	chr2	170063720	170063720	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgatccgcagaacttctatCagtgtttcagaaacaaaggc	8	9	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:170063720C>T	ENST00000263816.3	-	39	6795	c.6510G>A	c.(6508-6510)ctG>ctA	p.L2170L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2170					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L2170L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GAACTTCTATCAGTGTTTCAG	0.398																																																	1	Substitution - coding silent(1)	cervix(1)											60	58	59					2																	170063720		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6510G>A	2.37:g.170063720C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L2170	ENST00000263816.3	37	c.6510	CCDS2232.1	2																																																																																			LRP2	-	smart_LDLR_classB_rpt		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170063720	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	0.983	T	T	170063720	C	T	170063720	2	4	58	1	0	0	0	0	0	0	0	1	8979	813	29	1		1	LRP2	2	170063720	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1955542	170063720	73135653	198	7948										
FASTKD1	79675	genome.wustl.edu	37	chr2	170396650	170396650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatattcaagtgtggccaaaGagaaaccaagaaacactaat	7	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:170396650G>C	ENST00000453153.2	-	10	2202	c.1856C>G	c.(1855-1857)tCt>tGt	p.S619C	FASTKD1_ENST00000453929.2_Missense_Mutation_p.S619C|FASTKD1_ENST00000495505.1_5'Flank	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	619					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S619C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGTGGCCAAAGAGAAACCAAG	0.289																																																	1	Substitution - Missense(1)	cervix(1)											28	30	29					2																	170396650		2194	4278	6472	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1856C>G	2.37:g.170396650G>C	ENSP00000400513:p.Ser619Cys		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.S619C	ENST00000453153.2	37	c.1856	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031846	0.54790	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.66460	-0.21;-0.21	5.47	4.59	0.56863	FAST kinase leucine-rich (1);	0.498021	0.23291	N	0.049794	T	0.78842	0.4347	M	0.78916	2.43	0.09310	N	0.999997	D;D	0.76494	0.999;0.999	D;D	0.65443	0.927;0.935	T	0.70821	-0.4768	10	0.72032	D	0.01	-22.7267	9.8095	0.40815	0.1738:0.0:0.8262:0.0	.	619;619	Q53R41-2;Q53R41	.;FAKD1_HUMAN	C	619	ENSP00000400513:S619C;ENSP00000403229:S619C	ENSP00000400513:S619C	S	-	2	0	FASTKD1	170104896	0.840000	0.29493	1.000000	0.80357	0.986000	0.74619	3.335000	0.52105	1.301000	0.44836	0.655000	0.94253	TCT	FASTKD1	-	pfam_FAST_Leu-rich		0.289	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	G	NM_024622		170396650	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	missense	SNP	0.112	C	C	170396650	G	C	170396650	3	2	58	1	0	0	0	0	1	0	0	0	5703	942	33	1	711	1	FASTKD1	2	170396650	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	332930	170396650	72802723	199	7949										
PPIG	9360	genome.wustl.edu	37	chr2	170488307	170488307	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agagtgaagctgaaaatcttGaagcacaaccccagtctact	8	10	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:170488307G>C	ENST00000260970.3	+	11	1013	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	PPIG_ENST00000462903.1_Missense_Mutation_p.E265Q|PPIG_ENST00000448752.2_Missense_Mutation_p.E265Q|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.E250Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	265					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.E265Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGAAAATCTTGAAGCACAACC	0.403																																																	1	Substitution - Missense(1)	cervix(1)											167	149	155					2																	170488307		2203	4300	6503	SO:0001583	missense	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.793G>C	2.37:g.170488307G>C	ENSP00000260970:p.Glu265Gln		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E265Q	ENST00000260970.3	37	c.793	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578377	0.65878	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.80123	2.26;1.84;2.26;-1.34;2.26	5.14	5.14	0.70334	.	0.110666	0.64402	D	0.000011	T	0.81559	0.4848	M	0.71036	2.16	0.54753	D	0.999989	P;P;P;P;P	0.47762	0.761;0.468;0.9;0.839;0.468	B;B;B;B;B	0.43018	0.301;0.223;0.38;0.405;0.223	T	0.81344	-0.0975	10	0.30854	T	0.27	-3.6889	18.6042	0.91261	0.0:0.0:1.0:0.0	.	258;250;250;265;265	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Q	265;265;258;250;265;265	ENSP00000260970:E265Q;ENSP00000408683:E258Q;ENSP00000386245:E250Q;ENSP00000435987:E265Q;ENSP00000407083:E265Q	ENSP00000260970:E265Q	E	+	1	0	PPIG	170196553	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.420000	0.66441	2.379000	0.81126	0.467000	0.42956	GAA	PPIG	-	NULL		0.403	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	G			170488307	1	no_errors	ENST00000260970	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170488307	G	C	170488307	3	2	58	1	0	0	0	0	1	0	0	0	12351	1291	45	1	827	1	PPIG	2	170488307	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	91657	170488307	72711066	200	7950										
ZAK	51776	genome.wustl.edu	37	chr2	174086208	174086208	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtcagaaggtgacgatgatGatgatgatgacggtgaggag	17	3	1	8			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:174086208G>A	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_Missense_Mutation_p.D440N|MLTK_ENST00000431503.2_Missense_Mutation_p.D339N|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Missense_Mutation_p.D440N|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.D440N(1)									tgacgatgatgatgatgatga	0.393																																																	1	Substitution - Missense(1)	cervix(1)											50	48	49					2																	174086208		2203	4300	6503	SO:0001627	intron_variant	51776																														ENST00000375213.3:c.987+4230G>A	2.37:g.174086208G>A			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D440N	ENST00000375213.3	37	c.1318	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772281	0.49680	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.81579	-1.09;-1.09;-1.51	5.34	4.25	0.50352	.	.	.	.	.	T	0.65719	0.2718	N	0.14661	0.345	0.21445	N	0.999683	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56341	-0.7995	9	0.87932	D	0	.	8.143	0.31095	0.1891:0.0:0.8109:0.0	.	440;440	A8K710;D4Q8H0	.;.	N	440;440;339	ENSP00000439414:D440N;ENSP00000340257:D440N;ENSP00000399787:D339N	ENSP00000340257:D440N	D	+	1	0	AC013461.1	173794454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.826000	0.48104	2.526000	0.85167	0.650000	0.86243	GAT	MLTK	-	NULL		0.393	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174086208	1	no_errors	ENST00000338983	ensembl	human	known	70_37	missense	SNP	1.000	A	A	174086208	G	A	174086208	1	1	58	0	1	0	0	0	0	0	0	0	17543	1290	45	1		1	ZAK	2	174086208	Intron	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3597901	174086208	69113165	201	7951										
OLA1	29789	genome.wustl.edu	37	chr2	175094174	175094174	+	De_novo_Start_OutOfFrame	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttaacacattgaagaaagtaGatttcctaaaacaaataaaa	4	5	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:175094174G>C	ENST00000344357.5	-	0	153				OLA1_ENST00000284719.3_Missense_Mutation_p.S36C|OLA1_ENST00000409546.1_Missense_Mutation_p.S56C|OLA1_ENST00000428402.2_Missense_Mutation_p.S36C	NM_001011708.1	NP_001011708.1			Obg-like ATPase 1									p.S36C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GAAGAAAGTAGATTTCCTAAA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											47	48	48					2																	175094174		2203	4300	6503			29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000344357.5:c.-368C>G	2.37:g.175094174G>C				Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.S36C	ENST00000344357.5	37	c.107	CCDS42779.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768909	0.90020	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.61040	0.51;0.14;0.51;0.14	5.6	5.6	0.85130	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92632	0.6117	10	0.87932	D	0	-15.7461	19.9855	0.97347	0.0:0.0:1.0:0.0	.	36;36;36	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	C	36;36;56;36	ENSP00000284719:S36C;ENSP00000410385:S36C;ENSP00000386350:S56C;ENSP00000414568:S36C	ENSP00000284719:S36C	S	-	2	0	OLA1	174802420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.751000	0.98889	2.806000	0.96561	0.655000	0.94253	TCT	OLA1	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092		0.348	OLA1-002	KNOWN	basic|CCDS	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333876.2	G	NM_013341		175094174	-1	no_errors	ENST00000284719	ensembl	human	known	70_37	missense	SNP	1.000	C	C	175094174	G	C	175094174	1	2	58	1	0	1	0	0	0	0	0	0	10874	942	33	1		1	OLA1	2	175094174	De_novo_Start_OutOfFrame	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1007966	175094174	68105199	202	7952										
EVX2	344191	genome.wustl.edu	37	chr2	176945275	176945275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctacacagcagctccggccGagagtaggggtgcgagaggg	18	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:176945275G>A	ENST00000308618.4	-	3	1127	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	331					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCTCCGGCCGAGAGTAGGGG	0.746																																																	0													7	8	8					2																	176945275		2102	4138	6240	SO:0001583	missense	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.991C>T	2.37:g.176945275G>A	ENSP00000312385:p.Arg331Trp			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.R331W	ENST00000308618.4	37	c.991	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032010	0.54790	.	.	ENSG00000174279	ENST00000308618	D	0.92397	-3.03	3.92	3.02	0.34903	.	0.070100	0.56097	D	0.000029	D	0.89238	0.6658	L	0.43923	1.385	0.54753	D	0.999988	P	0.48350	0.909	P	0.46940	0.532	D	0.87900	0.2690	10	0.87932	D	0	-16.1313	8.8082	0.34952	0.0:0.0:0.5913:0.4087	.	331	Q03828	EVX2_HUMAN	W	331	ENSP00000312385:R331W	ENSP00000312385:R331W	R	-	1	2	EVX2	176653521	0.063000	0.20901	0.990000	0.47175	0.045000	0.14185	0.230000	0.17852	0.862000	0.35528	0.462000	0.41574	CGG	EVX2	-	NULL		0.746	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	G			176945275	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	missense	SNP	0.991	A	A	176945275	G	A	176945275	3	1	58	1	0	0	0	0	1	0	0	0	5307	1057	37	1	441	1	EVX2	2	176945275	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1851101	176945275	66254098	203	7953										
NFE2L2	4780	genome.wustl.edu	37	chr2	178095787	178095787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tattttccagttttctttttCtgcaattctgagcagccact	5	10	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:178095787C>G	ENST00000397062.3	-	5	2098	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R499T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R492T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R499T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	515	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R515T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTTCTTTTTCTGCAATTCTG	0.338			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Substitution - Missense(1)	cervix(1)											125	108	114					2																	178095787		1815	4078	5893	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1544G>C	2.37:g.178095787C>G	ENSP00000380252:p.Arg515Thr		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R515T	ENST00000397062.3	37	c.1544	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103748	0.76983	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.94931	-1.72;-1.72;-1.72;-3.56	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.045600	0.85682	D	0.000000	D	0.98178	0.9398	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98510	1.0618	10	0.87932	D	0	-18.3165	20.3748	0.98911	0.0:1.0:0.0:0.0	.	492;515	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	499;515;492;243	ENSP00000380253:R499T;ENSP00000380252:R515T;ENSP00000411575:R492T;ENSP00000391590:R243T	ENSP00000380252:R515T	R	-	2	0	NFE2L2	177804033	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	AGA	NFE2L2	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.338	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178095787	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178095787	C	G	178095787	3	3	58	1	0	0	0	0	1	0	0	0	10392	913	32	1	277	1	NFE2L2	2	178095787	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1150512	178095787	65103586	204	7954										
TTC30A	92104	genome.wustl.edu	37	chr2	178481445	178481445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcataactacttattccatCctataatctcataaatcaaa	1	10	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:178481445C>A	ENST00000355689.5	-	1	2249	c.1985G>T	c.(1984-1986)gGa>gTa	p.G662V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	662					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.G662V(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CTTATTCCATCCTATAATCTC	0.343																																																	1	Substitution - Missense(1)	cervix(1)											148	149	148					2																	178481445		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1985G>T	2.37:g.178481445C>A	ENSP00000347915:p.Gly662Val		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.G662V	ENST00000355689.5	37	c.1985	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719668	0.15372	.	.	ENSG00000197557	ENST00000355689;ENST00000545660	T	0.19250	2.16	5.83	4.03	0.46877	.	0.200819	0.52532	D	0.000067	T	0.16171	0.0389	N	0.08118	0	0.80722	D	1	P	0.45634	0.863	P	0.49192	0.602	T	0.07121	-1.0789	10	0.87932	D	0	.	10.2172	0.43175	0.0:0.6762:0.2564:0.0674	.	662	Q86WT1	TT30A_HUMAN	V	662;123	ENSP00000347915:G662V	ENSP00000347915:G662V	G	-	2	0	TTC30A	178189691	0.987000	0.35691	0.917000	0.36280	0.073000	0.16967	3.245000	0.51407	0.821000	0.34540	-0.282000	0.10007	GGA	TTC30A	-	NULL		0.343	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178481445	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.821	A	A	178481445	C	A	178481445	3	1	58	1	0	0	0	0	1	0	0	0	16729	855	30	3	16	3	TTC30A	2	178481445	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	385658	178481445	64717928	205	7955										
TTN	7273	genome.wustl.edu	37	chr2	179396631	179396631	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctggaaaagatatcaaatCttgcagacctctcaaatctc	5	11	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179396631C>G	ENST00000591111.1	-	308	100012	c.99788G>C	c.(99787-99789)aGa>aCa	p.R33263T	TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25839T|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34904T|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26031T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32336T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25964T|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33263					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R32336T(1)|p.R32334T(1)|p.R26031T(1)|p.R25839T(1)|p.R25964T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATCAAATCTTGCAGACCT	0.453																																																	5	Substitution - Missense(5)	cervix(5)											63	57	59					2																	179396631		1910	4125	6035	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99788G>C	2.37:g.179396631C>G	ENSP00000465570:p.Arg33263Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R32336T	ENST00000591111.1	37	c.97007		2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464865	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71341	-0.56;-0.31;-0.33;-0.34	5.56	5.56	0.83823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.71392	0.3334	N	0.24115	0.695	0.43508	D	0.995769	D;D;D;D	0.63880	0.993;0.993;0.993;0.993	P;P;P;P	0.53954	0.738;0.738;0.738;0.738	T	0.75616	-0.3256	9	0.87932	D	0	.	19.5233	0.95194	0.0:1.0:0.0:0.0	.	25839;25964;26031;33263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	32336;25839;26031;25964;25836	ENSP00000343764:R32336T;ENSP00000434586:R25839T;ENSP00000340554:R26031T;ENSP00000352154:R25964T	ENSP00000340554:R26031T	R	-	2	0	TTN	179104877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.935000	0.70145	2.615000	0.88500	0.650000	0.86243	AGA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179396631	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179396631	C	G	179396631	3	3	58	1	0	0	0	0	1	0	0	0	16766	913	32	1	3288	1	TTN	2	179396631	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	915186	179396631	63802742	206	7956										
TTN	7273	genome.wustl.edu	37	chr2	179437859	179437859	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatggatgatctgcttgtatCcagaacacgtgggttacctg	11	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179437859C>G	ENST00000591111.1	-	276	68301	c.68077G>C	c.(68077-68079)Gat>Cat	p.D22693H	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15269H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24334H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D15461H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21766H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15394H|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22693	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D15461H(1)|p.D21766H(1)|p.D15394H(1)|p.D15269H(1)|p.D21764H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTGTATCCAGAACACGT	0.448																																																	5	Substitution - Missense(5)	cervix(5)											106	100	102					2																	179437859		1920	4145	6065	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68077G>C	2.37:g.179437859C>G	ENSP00000465570:p.Asp22693His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D21766H	ENST00000591111.1	37	c.65296		2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737318	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.08	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77824	0.4188	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.67900	0.954;0.954;0.954;0.934	T	0.82390	-0.0481	9	0.87932	D	0	.	15.784	0.78289	0.0:0.9343:0.0:0.0657	.	15269;15394;15461;22693	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	21766;15269;15461;15394;15267	ENSP00000343764:D21766H;ENSP00000434586:D15269H;ENSP00000340554:D15461H;ENSP00000352154:D15394H	ENSP00000340554:D15461H	D	-	1	0	TTN	179146105	1.000000	0.71417	0.813000	0.32504	0.911000	0.54048	7.818000	0.86416	1.558000	0.49541	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179437859	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179437859	C	G	179437859	3	3	58	1	0	0	0	0	1	0	0	0	16766	855	30	1	35127	1	TTN	2	179437859	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	41228	179437859	63761514	207	7957										
TTN	7273	genome.wustl.edu	37	chr2	179449409	179449409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacataccaaatgggaactgCgcaaccatctttggagatgt	9	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179449409C>T	ENST00000591111.1	-	260	60260	c.60036G>A	c.(60034-60036)gcG>gcA	p.A20012A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.A21653A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.A12780A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A12713A|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20012	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAACTGCGCAACCATCT	0.433																																																	5	Substitution - coding silent(5)	cervix(5)											173	169	170					2																	179449409		1883	4110	5993	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60036G>A	2.37:g.179449409C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A19085	ENST00000591111.1	37	c.57255		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179449409	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.965	T	T	179449409	C	T	179449409	2	4	58	1	0	0	0	0	0	0	0	1	16766	755	27	2		2	TTN	2	179449409	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	11550	179449409	63749964	208	7958										
TTN	7273	genome.wustl.edu	37	chr2	179501443	179501443	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtaggtgaacggggcttCatcaggaggtttctctccac	13	10	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179501443C>T	ENST00000591111.1	-	175	36312	c.36088G>A	c.(36088-36090)Gaa>Aaa	p.E12030K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4606K|TTN_ENST00000589042.1_Missense_Mutation_p.E13671K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4798K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11103K|TTN_ENST00000359218.5_Missense_Mutation_p.E4731K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12030	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E11103K(2)|p.E4606K(1)|p.E4798K(1)|p.E4731K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGGGGCTTCATCAGGAGGT	0.443																																																	5	Substitution - Missense(5)	cervix(5)											70	69	69					2																	179501443		1903	4127	6030	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36088G>A	2.37:g.179501443C>T	ENSP00000465570:p.Glu12030Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E11103K	ENST00000591111.1	37	c.33307		2	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310988	0.60414	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70749	-0.51;-0.24;-0.25;-0.26	5.42	5.42	0.78866	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.66499	0.2795	L	0.55481	1.735	0.80722	D	1	P;P;P;P	0.39665	0.682;0.682;0.682;0.682	B;B;B;B	0.31390	0.129;0.129;0.129;0.129	T	0.72530	-0.4265	9	0.87932	D	0	.	19.5804	0.95465	0.0:1.0:0.0:0.0	.	4606;4731;4798;12030	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11103;4606;4798;4731;4606	ENSP00000343764:E11103K;ENSP00000434586:E4606K;ENSP00000340554:E4798K;ENSP00000352154:E4731K	ENSP00000340554:E4798K	E	-	1	0	TTN	179209688	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	7.729000	0.84864	2.696000	0.92011	0.650000	0.86243	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179501443	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179501443	C	T	179501443	3	4	58	1	0	0	0	0	1	0	0	0	16766	835	29	1	67234	1	TTN	2	179501443	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	52034	179501443	63697930	209	7959										
ITGAV	3685	genome.wustl.edu	37	chr2	187529285	187529285	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgattgttaaggctcagaatCaaggagaaggtgcctacgaa	12	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:187529285C>G	ENST00000261023.3	+	20	2264	c.1990C>G	c.(1990-1992)Caa>Gaa	p.Q664E	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q618E|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q628E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	664					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.Q664E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGCTCAGAATCAAGGAGAAGG	0.433																																					Melanoma(58;108 1995 6081)												1	Substitution - Missense(1)	cervix(1)											185	171	176					2																	187529285		2203	4300	6503	SO:0001583	missense	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1990C>G	2.37:g.187529285C>G	ENSP00000261023:p.Gln664Glu		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q664E	ENST00000261023.3	37	c.1990	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	C	8.472	0.857797	0.17178	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	Integrin alpha-2 (1);	0.302403	0.37906	N	0.001888	T	0.30634	0.0771	N	0.17379	0.485	0.42947	D	0.994365	B;B;B	0.32918	0.39;0.001;0.39	B;B;B	0.36418	0.224;0.004;0.224	T	0.08911	-1.0699	10	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	618;628;664	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	E	664;628;618	ENSP00000261023:Q664E;ENSP00000364042:Q628E;ENSP00000404291:Q618E	ENSP00000261023:Q664E	Q	+	1	0	ITGAV	187237530	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	2.275000	0.43399	2.941000	0.99782	0.655000	0.94253	CAA	ITGAV	-	pfam_Integrin_alpha-2		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	C	NM_002210		187529285	1	no_errors	ENST00000261023	ensembl	human	known	70_37	missense	SNP	1.000	G	G	187529285	C	G	187529285	3	3	58	1	0	0	0	0	1	0	0	0	7908	827	29	1	2119	1	ITGAV	2	187529285	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	8027842	187529285	55670088	210	7960										
ZSWIM2	151112	genome.wustl.edu	37	chr2	187693420	187693420	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgcttgtccattcactgctGaatttttccaagttaaaggg	9	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:187693420G>A	ENST00000295131.2	-	9	1232	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	398					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S398L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTCACTGCTGAATTTTTCCA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											67	65	66					2																	187693420		2203	4299	6502	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1193C>T	2.37:g.187693420G>A	ENSP00000295131:p.Ser398Leu		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.S398L	ENST00000295131.2	37	c.1193	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	3.523	-0.097254	0.07010	.	.	ENSG00000163012	ENST00000295131	T	0.24151	1.87	5.2	-0.128	0.13506	.	1.236870	0.05656	N	0.586033	T	0.20455	0.0492	L	0.46947	1.48	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.31613	-0.9937	10	0.49607	T	0.09	0.136	1.8097	0.03088	0.3034:0.1334:0.4382:0.125	.	398	Q8NEG5	ZSWM2_HUMAN	L	398	ENSP00000295131:S398L	ENSP00000295131:S398L	S	-	2	0	ZSWIM2	187401665	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	-0.243000	0.09653	-0.191000	0.12829	TCA	ZSWIM2	-	NULL		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	G	NM_182521		187693420	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	missense	SNP	0.000	A	A	187693420	G	A	187693420	3	1	58	1	0	0	0	0	1	0	0	0	18271	1294	45	1	712	1	ZSWIM2	2	187693420	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	164135	187693420	55505953	211	7961										
WDR75	84128	genome.wustl.edu	37	chr2	190328666	190328666	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcagttttattctctccaGagtgataaacagttatacaa	6	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:190328666G>C	ENST00000314761.4	+	11	1152	c.1092G>C	c.(1090-1092)caG>caC	p.Q364H		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	364						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q364Q(1)|p.Q364H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATTCTCTCCAGAGTGATAAAC	0.368																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|prostate(1)											89	86	87					2																	190328666		2203	4299	6502	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1092G>C	2.37:g.190328666G>C	ENSP00000314193:p.Gln364His		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q364H	ENST00000314761.4	37	c.1092	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942260	0.18281	.	.	ENSG00000115368	ENST00000314761	T	0.60920	0.15	5.26	0.0625	0.14345	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.162445	0.56097	D	0.000031	T	0.30355	0.0762	N	0.05554	-0.025	0.40687	D	0.982367	B;B	0.09022	0.002;0.002	B;B	0.12156	0.003;0.007	T	0.02885	-1.1098	10	0.33141	T	0.24	-14.7412	6.7833	0.23659	0.4706:0.0:0.4157:0.1137	.	364;364	A8K330;Q8IWA0	.;WDR75_HUMAN	H	364	ENSP00000314193:Q364H	ENSP00000314193:Q364H	Q	+	3	2	WDR75	190036911	0.782000	0.28689	0.966000	0.40874	0.998000	0.95712	-0.110000	0.10824	0.047000	0.15862	0.650000	0.86243	CAG	WDR75	-	pfscan_WD40_repeat_dom		0.368	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	G	NM_032168		190328666	1	no_errors	ENST00000314761	ensembl	human	known	70_37	missense	SNP	0.798	C	C	190328666	G	C	190328666	3	2	58	1	0	0	0	0	1	0	0	0	17356	933	33	1	1134	1	WDR75	2	190328666	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2635246	190328666	52870707	212	7962										
INPP1	3628	genome.wustl.edu	37	chr2	191233880	191233880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgacattaaatccaaccaggGaatcttcccctgtggacttc	7	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:191233880G>A	ENST00000322522.4	+	5	974	c.518G>A	c.(517-519)gGa>gAa	p.G173E	INPP1_ENST00000392329.2_Missense_Mutation_p.G173E|INPP1_ENST00000541441.1_Missense_Mutation_p.G173E	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	173					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)	p.G173E(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			TCCAACCAGGGAATCTTCCCC	0.388																																					Melanoma(130;184 1743 2185 19805 38428)												1	Substitution - Missense(1)	cervix(1)											103	103	103					2																	191233880		2203	4300	6503	SO:0001583	missense	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.518G>A	2.37:g.191233880G>A	ENSP00000325423:p.Gly173Glu			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.G173E	ENST00000322522.4	37	c.518	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439356	0.83885	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000444194;ENST00000423767	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.24	5.24	0.73138	.	0.155330	0.56097	D	0.000023	T	0.63046	0.2478	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63400	-0.6646	10	0.41790	T	0.15	-23.3682	16.4272	0.83818	0.0:0.0:1.0:0.0	.	173	P49441	INPP_HUMAN	E	173	ENSP00000376142:G173E;ENSP00000325423:G173E;ENSP00000440650:G173E;ENSP00000409786:G173E;ENSP00000404732:G173E;ENSP00000395424:G173E	ENSP00000325423:G173E	G	+	2	0	INPP1	190942125	1.000000	0.71417	0.981000	0.43875	0.918000	0.54935	4.835000	0.62781	2.747000	0.94245	0.644000	0.83932	GGA	INPP1	-	pfam_Inositol_monophosphatase		0.388	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	G			191233880	1	no_errors	ENST00000322522	ensembl	human	known	70_37	missense	SNP	0.998	A	A	191233880	G	A	191233880	3	1	58	1	0	0	0	0	1	0	0	0	7771	1174	41	1	532	1	INPP1	2	191233880	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	905214	191233880	51965493	213	7963										
GLS	2744	genome.wustl.edu	37	chr2	191769883	191769883	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agattcaacaaactatttttGaatgaagatggtaagaatta	7	3	1	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:191769883G>A	ENST00000320717.3	+	6	1227	c.969G>A	c.(967-969)ttG>ttA	p.L323L	GLS_ENST00000338435.4_Silent_p.L323L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	323					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.L323L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	AACTATTTTTGAATGAAGATG	0.294																																																	1	Substitution - coding silent(1)	cervix(1)											78	78	78					2																	191769883		2203	4300	6503	SO:0001819	synonymous_variant	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.969G>A	2.37:g.191769883G>A			Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.L323	ENST00000320717.3	37	c.969	CCDS2308.1	2																																																																																			GLS	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase		0.294	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	G			191769883	1	no_errors	ENST00000320717	ensembl	human	known	70_37	silent	SNP	0.982	A	A	191769883	G	A	191769883	2	1	58	1	0	0	0	0	0	0	0	1	6482	1281	45	1		1	GLS	2	191769883	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	536003	191769883	51429490	214	7964										
SDPR	8436	genome.wustl.edu	37	chr2	192701229	192701229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccactttcttcaggctggatCtttttattttctctgcccta	5	12	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:192701229C>G	ENST00000304141.4	-	2	1027	c.698G>C	c.(697-699)aGa>aCa	p.R233T		NM_004657.5	NP_004648.1			serum deprivation response									p.R233T(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CAGGCTGGATCTTTTTATTTT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											171	178	175					2																	192701229		2203	4300	6503	SO:0001583	missense	8436			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.698G>C	2.37:g.192701229C>G	ENSP00000305675:p.Arg233Thr			Missense_Mutation	SNP	NULL	p.R233T	ENST00000304141.4	37	c.698	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801939	0.70682	.	.	ENSG00000168497	ENST00000304141	T	0.66815	-0.23	5.16	4.28	0.50868	.	0.056184	0.64402	D	0.000003	T	0.77525	0.4143	M	0.79693	2.465	0.50467	D	0.999874	D	0.55800	0.973	P	0.54270	0.747	T	0.81895	-0.0723	10	0.87932	D	0	-12.9759	14.1651	0.65471	0.0:0.9275:0.0:0.0725	.	233	O95810	SDPR_HUMAN	T	233	ENSP00000305675:R233T	ENSP00000305675:R233T	R	-	2	0	SDPR	192409474	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	4.497000	0.60367	1.404000	0.46819	0.563000	0.77884	AGA	SDPR	-	NULL		0.473	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	C	NM_004657		192701229	-1	no_errors	ENST00000304141	ensembl	human	known	70_37	missense	SNP	1.000	G	G	192701229	C	G	192701229	3	3	58	1	0	0	0	0	1	0	0	0	14000	913	32	1	583	1	SDPR	2	192701229	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	931346	192701229	50498144	215	7965										
PLCL1	5334	genome.wustl.edu	37	chr2	198949706	198949706	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttctgaatacccactcattCtttgcttgggaaatcactgc	6	12	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:198949706C>G	ENST00000428675.1	+	2	1863	c.1465C>G	c.(1465-1467)Ctt>Gtt	p.L489V	PLCL1_ENST00000437704.2_Missense_Mutation_p.L391V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	489	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L391V(1)|p.L489V(1)|p.L391F(1)|p.L489F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCCACTCATTCTTTGCTTGGG	0.403																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											72	71	71					2																	198949706		2203	4300	6503	SO:0001583	missense	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1465C>G	2.37:g.198949706C>G	ENSP00000402861:p.Leu489Val		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L489V	ENST00000428675.1	37	c.1465	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736898	0.30774	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.63580	-0.05;-0.05	5.94	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000017	T	0.69360	0.3102	L	0.42487	1.325	0.58432	D	0.999998	P;P	0.49447	0.924;0.924	P;P	0.57548	0.823;0.823	T	0.67715	-0.5599	9	.	.	.	.	17.0329	0.86466	0.0:0.8728:0.1272:0.0	.	489;415	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	489;391	ENSP00000402861:L489V;ENSP00000414138:L391V	.	L	+	1	0	PLCL1	198657951	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.910000	0.69931	1.487000	0.48415	0.561000	0.74099	CTT	PLCL1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	C	NM_006226		198949706	1	no_errors	ENST00000428675	ensembl	human	known	70_37	missense	SNP	1.000	G	G	198949706	C	G	198949706	3	3	58	1	0	0	0	0	1	0	0	0	12063	913	32	1	1471	1	PLCL1	2	198949706	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6248477	198949706	44249667	216	7966										
C2orf60	129450	genome.wustl.edu	37	chr2	200820176	200820176	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctccagccggggtaccggGaggtgctgcccggccatggt	16	15	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:200820176G>A	ENST00000354611.4	-	1	283	c.18C>T	c.(16-18)ctC>ctT	p.L6L	C2orf47_ENST00000295079.2_Intron|C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000392290.1_5'Flank|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	6					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.L6L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						GGGGTACCGGGAGGTGCTGCC	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											23	28	27					2																	200820176		1946	4154	6100	SO:0001819	synonymous_variant	129450			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 60"	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.18C>T	2.37:g.200820176G>A			B2RNE3|Q8N1R2	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L6	ENST00000354611.4	37	c.18	CCDS42795.1	2																																																																																			TYW5	-	NULL		0.652	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW5	HGNC	protein_coding	OTTHUMT00000256144.3	G	NM_001039693		200820176	-1	no_errors	ENST00000354611	ensembl	human	known	70_37	silent	SNP	0.000	A	A	200820176	G	A	200820176	2	1	58	1	0	0	0	0	0	0	0	1	2184	1161	41	1		1	C2orf60	2	200820176	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1870470	200820176	42379197	217	7967										
SGOL2	151246	genome.wustl.edu	37	chr2	201438514	201438514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacattcacctaacatacaaGattcttcctttgacagtgtt	4	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:201438514G>C	ENST00000357799.4	+	7	3543	c.3445G>C	c.(3445-3447)Gat>Cat	p.D1149H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1149					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.D1149H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAACATACAAGATTCTTCCTT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											122	110	113					2																	201438514		1839	4088	5927	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3445G>C	2.37:g.201438514G>C	ENSP00000350447:p.Asp1149His		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.D1149H	ENST00000357799.4	37	c.3445	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745020	0.49151	.	.	ENSG00000163535	ENST00000357799	T	0.12774	2.65	5.52	2.11	0.27256	.	0.306925	0.27306	N	0.019968	T	0.20333	0.0489	L	0.51422	1.61	0.09310	N	0.999998	D;D;D	0.65815	0.98;0.98;0.995	P;P;P	0.60415	0.847;0.847;0.874	T	0.03662	-1.1015	10	0.72032	D	0.01	-3.7299	3.2761	0.06898	0.2567:0.0:0.5503:0.193	.	1149;1149;1149	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	1149	ENSP00000350447:D1149H	ENSP00000350447:D1149H	D	+	1	0	SGOL2	201146759	0.146000	0.22672	0.785000	0.31869	0.043000	0.13939	0.671000	0.25172	1.223000	0.43536	0.650000	0.86243	GAT	SGOL2	-	NULL		0.358	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201438514	1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.121	C	C	201438514	G	C	201438514	3	2	58	1	0	0	0	0	1	0	0	0	14247	942	33	1	3467	1	SGOL2	2	201438514	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	618338	201438514	41760859	218	7968										
NOP58	51602	genome.wustl.edu	37	chr2	203147126	203147126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagcagctgaaaaaagttctGaagaaaatagtaaaagaagc	9	4	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:203147126G>A	ENST00000264279.5	+	4	454	c.228G>A	c.(226-228)ctG>ctA	p.L76L	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	76					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.L76L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AAAAAGTTCTGAAGAAAATAG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											80	83	82					2																	203147126		2203	4300	6503	SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.228G>A	2.37:g.203147126G>A			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.L76	ENST00000264279.5	37	c.228	CCDS2353.1	2																																																																																			NOP58	-	NULL		0.378	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203147126	1	no_errors	ENST00000264279	ensembl	human	known	70_37	silent	SNP	0.944	A	A	203147126	G	A	203147126	2	1	58	1	0	0	0	0	0	0	0	1	10564	1277	45	1		1	NOP58	2	203147126	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1708612	203147126	40052247	219	7969										
ALS2CR8	79800	genome.wustl.edu	37	chr2	203826051	203826051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagcaaacacagagtgtttGggggacccgtcagtctccaa	12	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:203826051G>C	ENST00000402905.3	+	8	1055	c.734G>C	c.(733-735)tGg>tCg	p.W245S	CARF_ENST00000545253.1_Missense_Mutation_p.W157S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000471271.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.W245S|CARF_ENST00000414439.1_Missense_Mutation_p.W143S|CARF_ENST00000545262.1_Missense_Mutation_p.W169S|CARF_ENST00000444724.1_Missense_Mutation_p.W245S|CARF_ENST00000428585.1_Missense_Mutation_p.W169S|CARF_ENST00000434998.1_Missense_Mutation_p.W143S|CARF_ENST00000438828.2_Missense_Mutation_p.W245S	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	245					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W245S(1)									CAGAGTGTTTGGGGGACCCGT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											72	72	72					2																	203826051		1907	4118	6025	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.734G>C	2.37:g.203826051G>C	ENSP00000384006:p.Trp245Ser		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.W245S	ENST00000402905.3	37	c.734	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947079	0.53186	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.31	5.31	0.75309	.	0.172031	0.41396	D	0.000894	T	0.67832	0.2935	L	0.34521	1.04	0.58432	D	0.999999	P;P;P;D	0.89917	0.58;0.58;0.58;1.0	B;B;B;D	0.79108	0.344;0.344;0.344;0.992	T	0.69499	-0.5129	9	0.54805	T	0.06	-3.9898	17.9649	0.89097	0.0:0.0:1.0:0.0	.	157;169;245;245	B4DIA7;G3V1K7;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	S	245;245;143;169;157;169;143;245;245	.	ENSP00000316224:W245S	W	+	2	0	ALS2CR8	203534296	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.473000	0.66774	2.477000	0.83638	0.563000	0.77884	TGG	ALS2CR8	-	NULL		0.458	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	G	NM_001104586		203826051	1	no_errors	ENST00000320443	ensembl	human	known	70_37	missense	SNP	1.000	C	C	203826051	G	C	203826051	3	2	58	1	0	0	0	0	1	0	0	0	555	1357	47	4	756	4	ALS2CR8	2	203826051	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	678925	203826051	39373322	220	7970										
NBEAL1	65065	genome.wustl.edu	37	chr2	204075737	204075737	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagtatctagggtctcaaatCctgaaggaacaagtatcaga	9	7	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:204075737C>G	ENST00000449802.1	+	53	8088	c.7755C>G	c.(7753-7755)atC>atG	p.I2585M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2585								p.I1295M(1)|p.I2585M(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTCTCAAATCCTGAAGGAAC	0.333																																																	2	Substitution - Missense(2)	cervix(2)											71	68	69					2																	204075737		1832	4085	5917	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7755C>G	2.37:g.204075737C>G	ENSP00000399903:p.Ile2585Met		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I2585M	ENST00000449802.1	37	c.7755	CCDS46495.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.638|8.638	0.895286|0.895286	0.17613|0.17613	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576|ENST00000434469	T;T|.	0.29142|.	5.0;1.58|.	4.95|4.95	1.11|1.11	0.20524|0.20524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.852653|.	0.10765|.	N|.	0.636642|.	T|T	0.18299|0.18299	0.0439|0.0439	N|N	0.08118|0.08118	0|0	0.22591|0.22591	N|N	0.998957|0.998957	B;B;B|.	0.20164|.	0.001;0.042;0.02|.	B;B;B|.	0.22152|.	0.002;0.038;0.027|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.45353|.	T|.	0.12|.	.|.	9.3444|9.3444	0.38100|0.38100	0.0:0.5235:0.0:0.4765|0.0:0.5235:0.0:0.4765	.|.	1295;2585;2574|.	D1MPS9;Q6ZS30;C9JGK5|.	.;NBEL1_HUMAN;.|.	M|C	2585;2495;600|113	ENSP00000399903:I2585M;ENSP00000388466:I600M|.	ENSP00000344985:I2495M|.	I|S	+|+	3|2	3|0	NBEAL1|NBEAL1	203783982|203783982	0.972000|0.972000	0.33761|0.33761	0.759000|0.759000	0.31340|0.31340	0.720000|0.720000	0.41350|0.41350	0.487000|0.487000	0.22356|0.22356	0.152000|0.152000	0.19188|0.19188	-0.424000|-0.424000	0.05967|0.05967	ATC|TCC	NBEAL1	-	superfamily_WD40_repeat_dom		0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204075737	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.709	G	G	204075737	C	G	204075737	3	3	58	1	0	0	0	0	1	0	0	0	10211	845	30	1	7961	1	NBEAL1	2	204075737	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	249686	204075737	39123636	221	7971										
CYP20A1	57404	genome.wustl.edu	37	chr2	204131338	204131338	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctatgaagtctgttacacaGatggtaatgggtagtacatt	11	5	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:204131338G>C	ENST00000356079.4	+	5	657	c.534G>C	c.(532-534)caG>caC	p.Q178H	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.Q178H	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	178						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.Q178H(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CTGTTACACAGATGGTAATGG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											143	134	137					2																	204131338		2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.534G>C	2.37:g.204131338G>C	ENSP00000348380:p.Gln178His		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	p.Q178H	ENST00000356079.4	37	c.534	CCDS2357.1	2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299523	0.40694	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.68903	-0.36;-0.36;-0.36	5.52	1.7	0.24286	.	0.182086	0.49305	D	0.000142	T	0.57725	0.2073	L	0.55481	1.735	0.39166	D	0.962497	B;B	0.12630	0.006;0.001	B;B	0.18871	0.023;0.01	T	0.57183	-0.7855	10	0.48119	T	0.1	-1.3316	9.0385	0.36302	0.3464:0.0:0.6536:0.0	.	178;178	E9PHG5;Q6UW02	.;CP20A_HUMAN	H	178	ENSP00000348380:Q178H;ENSP00000407860:Q178H;ENSP00000411341:Q178H	ENSP00000348380:Q178H	Q	+	3	2	CYP20A1	203839583	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.886000	0.39688	0.695000	0.31675	-0.157000	0.13467	CAG	CYP20A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.418	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP20A1	HGNC	protein_coding	OTTHUMT00000256328.3	G	NM_020674		204131338	1	no_errors	ENST00000356079	ensembl	human	known	70_37	missense	SNP	0.997	C	C	204131338	G	C	204131338	3	2	58	1	0	0	0	0	1	0	0	0	4157	933	33	1	552	1	CYP20A1	2	204131338	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	55601	204131338	39068035	222	7972										
CRYGB	1419	genome.wustl.edu	37	chr2	209007482	209007482	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctccccctgtagttgggcatCtcatagaggatccagctgcc	10	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:209007482C>T	ENST00000260988.4	-	3	455	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	136	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.E136E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGTTGGGCATCTCATAGAGGA	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											106	105	106					2																	209007482		2203	4300	6503	SO:0001819	synonymous_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.408G>A	2.37:g.209007482C>T			Q17RB5|Q53ST2	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E136	ENST00000260988.4	37	c.408	CCDS2380.1	2																																																																																			CRYGB	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.542	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGB	HGNC	protein_coding	OTTHUMT00000256473.2	C	NM_005210		209007482	-1	no_errors	ENST00000260988	ensembl	human	known	70_37	silent	SNP	1.000	T	T	209007482	C	T	209007482	2	4	58	1	0	0	0	0	0	0	0	1	3920	912	32	1		1	CRYGB	2	209007482	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4876144	209007482	34191891	223	7973										
MAP2	4133	genome.wustl.edu	37	chr2	210594968	210594968	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtgtggaccatggggctgaGatcattacacagtccccagg	13	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:210594968G>A	ENST00000360351.4	+	15	5837	c.5331G>A	c.(5329-5331)gaG>gaA	p.E1777E	MAP2_ENST00000447185.1_Silent_p.E1773E|MAP2_ENST00000199940.6_Silent_p.E509E|MAP2_ENST00000392194.1_Silent_p.E421E|MAP2_ENST00000361559.4_Silent_p.E421E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1777					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E509E(1)|p.E1777E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGGGGCTGAGATCATTACAC	0.517																																					Pancreas(27;423 979 28787 29963)												2	Substitution - coding silent(2)	cervix(2)											92	83	86					2																	210594968		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5331G>A	2.37:g.210594968G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1777	ENST00000360351.4	37	c.5331	CCDS2384.1	2																																																																																			MAP2	-	NULL		0.517	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594968	1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	1.000	A	A	210594968	G	A	210594968	2	1	58	1	0	0	0	0	0	0	0	1	9258	933	33	1		1	MAP2	2	210594968	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1587486	210594968	32604405	224	7974										
TMEM169	92691	genome.wustl.edu	37	chr2	216964767	216964767	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagaaagagctgcaggaactGaccaaacctaaagagtcatc	10	9	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:216964767G>A	ENST00000295658.4	+	3	603	c.396G>A	c.(394-396)ctG>ctA	p.L132L	TMEM169_ENST00000437356.2_Silent_p.L132L|TMEM169_ENST00000454545.1_Silent_p.L132L|TMEM169_ENST00000406027.2_Silent_p.L132L	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	132						integral component of membrane (GO:0016021)		p.L132L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGAACTGACCAAACCTA	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											120	106	110					2																	216964767		2203	4300	6503	SO:0001819	synonymous_variant	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.396G>A	2.37:g.216964767G>A			B2R8W6	Silent	SNP	NULL	p.L132	ENST00000295658.4	37	c.396	CCDS2401.1	2																																																																																			TMEM169	-	NULL		0.542	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	G	NM_138390		216964767	1	no_errors	ENST00000295658	ensembl	human	known	70_37	silent	SNP	1.000	A	A	216964767	G	A	216964767	2	1	58	1	0	0	0	0	0	0	0	1	16114	1277	45	1		1	TMEM169	2	216964767	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6369799	216964767	26234606	225	7975										
TNS1	7145	genome.wustl.edu	37	chr2	218686477	218686477	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcttacctgtcagcactgagGatggggctgctggtggagag	17	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:218686477G>A	ENST00000171887.4	-	23	3698	c.3246C>T	c.(3244-3246)atC>atT	p.I1082I	TNS1_ENST00000430930.1_Silent_p.I1061I|TNS1_ENST00000419504.1_Silent_p.I1069I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1082	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.I1082I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGCACTGAGGATGGGGCTGC	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											12	13	12					2																	218686477		2200	4296	6496	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3246C>T	2.37:g.218686477G>A			Q4ZG71|Q6IPI5	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I1082	ENST00000171887.4	37	c.3246	CCDS2407.1	2																																																																																			TNS1	-	NULL		0.662	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218686477	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	silent	SNP	1.000	A	A	218686477	G	A	218686477	2	1	58	1	0	0	0	0	0	0	0	1	16373	1164	41	1		1	TNS1	2	218686477	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1721710	218686477	24512896	226	7976										
TMBIM1	64114	genome.wustl.edu	37	chr2	219142177	219142177	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggctttggtttggtacataCtggggagaagcaggagttac	15	6	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:219142177C>G	ENST00000444881.1	-	10	1277		c.e10-1		TMBIM1_ENST00000396809.2_Splice_Site|TMBIM1_ENST00000445635.1_Splice_Site|PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Splice_Site			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1						negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)	p.?(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGTACATACTGGGGAGAAG	0.498																																																	1	Unknown(1)	cervix(1)											101	94	96					2																	219142177		2203	4300	6503	SO:0001630	splice_region_variant	64114			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.552-1G>C	2.37:g.219142177C>G			B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Splice_Site	SNP	-	e8-1	ENST00000444881.1	37	c.552-1	CCDS2412.1	2	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830323	0.71258	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9543	0.89063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMBIM1	218850421	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.766000	0.74970	2.471000	0.83476	0.655000	0.94253	.	TMBIM1	-	-		0.498	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	HGNC	protein_coding	OTTHUMT00000338559.1	C	NM_022152	Intron	219142177	-1	no_errors	ENST00000258412	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	219142177	C	G	219142177	5	3	58	1	0	0	0	0	0	0	1	0	16011	579	20	4	400	4	TMBIM1	2	219142177	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	455700	219142177	24057196	227	7977										
STK36	27148	genome.wustl.edu	37	chr2	219566632	219566632	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgagaaactatccttgctctCtctggggaatcagtcactgc	9	11	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:219566632C>G	ENST00000295709.3	+	27	4127	c.3848C>G	c.(3847-3849)tCt>tGt	p.S1283C	STK36_ENST00000392105.3_Missense_Mutation_p.S1262C|STK36_ENST00000392106.2_Missense_Mutation_p.S1262C|STK36_ENST00000440309.1_Missense_Mutation_p.S1283C	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.S1283C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCTTGCTCTCTCTGGGGAAT	0.522																																																	1	Substitution - Missense(1)	cervix(1)											111	94	100					2																	219566632		2203	4300	6503	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3848C>G	2.37:g.219566632C>G	ENSP00000295709:p.Ser1283Cys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1283C	ENST00000295709.3	37	c.3848	CCDS2421.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.617242|3.617242	0.66672|0.66672	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000431040|ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.|T;T;T;T	.|0.72615	.|-0.65;-0.66;-0.67;-0.65	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.000000	.|0.43110	.|D	.|0.000607	T|T	0.75451|0.75451	0.3851|0.3851	L|L	0.47716|0.47716	1.5|1.5	0.19300|0.19300	N|N	0.999971|0.999971	.|P;D;D	.|0.58620	.|0.938;0.979;0.983	.|P;P;P	.|0.53593	.|0.541;0.73;0.62	T|T	0.70026|0.70026	-0.4985|-0.4985	5|10	.|0.62326	.|D	.|0.03	-5.8768|-5.8768	17.6706|17.6706	0.88216|0.88216	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1262;1262;1283	.|A8MU99;Q9NRP7-2;Q9NRP7	.|.;.;STK36_HUMAN	V|C	476|1283;1262;1262;1283	.|ENSP00000295709:S1283C;ENSP00000375955:S1262C;ENSP00000375954:S1262C;ENSP00000394095:S1283C	.|ENSP00000295709:S1283C	L|S	+|+	1|2	0|0	STK36|STK36	219274876|219274876	0.806000|0.806000	0.28996|0.28996	0.969000|0.969000	0.41365|0.41365	0.662000|0.662000	0.39071|0.39071	3.347000|3.347000	0.52200|0.52200	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT	STK36	-	superfamily_ARM-type_fold		0.522	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	C			219566632	1	no_errors	ENST00000295709	ensembl	human	known	70_37	missense	SNP	0.158	G	G	219566632	C	G	219566632	3	3	58	1	0	0	0	0	1	0	0	0	15332	913	32	1	3950	1	STK36	2	219566632	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	424455	219566632	23632741	228	7978										
CCDC108	255101	genome.wustl.edu	37	chr2	219868909	219868909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcctcttcctcctccaactCttcttcttcctcttcaccct	0	21	6	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:219868909C>G	ENST00000341552.5	-	33	5403	c.5320G>C	c.(5320-5322)Gag>Cag	p.E1774Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1774Q|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1774Q|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1774	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E1774Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcctccaactcttcttcttcc	0.542																																																	1	Substitution - Missense(1)	cervix(1)											96	91	93					2																	219868909		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5320G>C	2.37:g.219868909C>G	ENSP00000340776:p.Glu1774Gln		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1774Q	ENST00000341552.5	37	c.5320	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044896	0.36085	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07688	3.17;3.17;3.17	4.67	2.75	0.32379	.	0.171581	0.27473	N	0.019216	T	0.07818	0.0196	L	0.43152	1.355	0.19575	N	0.999968	B	0.20261	0.043	B	0.19391	0.025	T	0.27226	-1.0080	10	0.32370	T	0.25	-10.0386	9.4189	0.38539	0.1603:0.6847:0.155:0.0	.	1774	Q6ZU64	CC108_HUMAN	Q	1774	ENSP00000340776:E1774Q;ENSP00000413377:E1774Q;ENSP00000409117:E1774Q	ENSP00000340776:E1774Q	E	-	1	0	CCDC108	219577153	0.114000	0.22134	0.155000	0.22561	0.530000	0.34684	0.806000	0.27126	0.946000	0.37632	0.561000	0.74099	GAG	CCDC108	-	NULL		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868909	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.125	G	G	219868909	C	G	219868909	3	3	58	1	0	0	0	0	1	0	0	0	2748	922	32	1	469	1	CCDC108	2	219868909	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	302277	219868909	23330464	229	7979										
SLC4A3	6508	genome.wustl.edu	37	chr2	220498102	220498102	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caactcccagccatggccctGatggggcggtgcctaccatg	12	15	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:220498102G>C	ENST00000358055.3	+	10	1896	c.1384G>C	c.(1384-1386)Gat>Cat	p.D462H	SLC4A3_ENST00000273063.6_Missense_Mutation_p.D489H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D489H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D462H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D462H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	462					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.D489H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATGGCCCTGATGGGGCGGT	0.602																																																	1	Substitution - Missense(1)	cervix(1)											68	63	65					2																	220498102		2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1384G>C	2.37:g.220498102G>C	ENSP00000350756:p.Asp462His		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.D489H	ENST00000358055.3	37	c.1465	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493457	0.64186	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.88	4.88	0.63580	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.405053	0.24991	N	0.034000	T	0.48132	0.1483	N	0.13168	0.305	0.52099	D	0.999944	B;B	0.24576	0.06;0.106	B;B	0.25405	0.06;0.052	T	0.41610	-0.9499	10	0.17832	T	0.49	.	13.4311	0.61055	0.0:0.0:1.0:0.0	.	462;489	P48751;P48751-3	B3A3_HUMAN;.	H	462;462;489;489;462	ENSP00000350756:D462H;ENSP00000362865:D462H;ENSP00000273063:D489H;ENSP00000362867:D489H;ENSP00000314006:D462H	ENSP00000273063:D489H	D	+	1	0	SLC4A3	220206346	0.994000	0.37717	0.972000	0.41901	0.688000	0.40055	3.980000	0.56895	2.538000	0.85594	0.643000	0.83706	GAT	SLC4A3	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_Anion_exchange_3,tigrfam_HCO3_transpt_euk		0.602	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220498102	1	no_errors	ENST00000273063	ensembl	human	known	70_37	missense	SNP	0.987	C	C	220498102	G	C	220498102	3	2	58	1	0	0	0	0	1	0	0	0	14685	1290	45	1	1499	1	SLC4A3	2	220498102	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	629193	220498102	22701271	230	7980										
EPHA4	2043	genome.wustl.edu	37	chr2	222294716	222294716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcctcttcaagctgttgggGttgcggatgagtttgtccaa	13	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:222294716G>A	ENST00000281821.2	-	15	2693	c.2652C>T	c.(2650-2652)aaC>aaT	p.N884N	EPHA4_ENST00000409938.1_Silent_p.N884N|EPHA4_ENST00000392071.4_Silent_p.N833N|EPHA4_ENST00000409854.1_Silent_p.N884N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	884					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.N884N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGCTGTTGGGGTTGCGGATGA	0.512																																																	2	Substitution - coding silent(2)	cervix(2)											194	190	191					2																	222294716		2203	4300	6503	SO:0001819	synonymous_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2652C>T	2.37:g.222294716G>A			A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N884	ENST00000281821.2	37	c.2652	CCDS2447.1	2																																																																																			EPHA4	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	G			222294716	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	silent	SNP	0.999	A	A	222294716	G	A	222294716	2	1	58	1	0	0	0	0	0	0	0	1	5181	1252	44	4		4	EPHA4	2	222294716	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1796614	222294716	20904657	231	7981										
DOCK10	55619	genome.wustl.edu	37	chr2	225751178	225751178	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcaactatttacttacttCatccttatcagcatcttcat	1	11	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:225751178C>T	ENST00000258390.7	-	5	554	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	DOCK10_ENST00000409592.3_Missense_Mutation_p.E157K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	163					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E163K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTACTTACTTCATCCTTATCA	0.338																																																	1	Substitution - Missense(1)	cervix(1)											98	96	97					2																	225751178		1865	4092	5957	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.487G>A	2.37:g.225751178C>T	ENSP00000258390:p.Glu163Lys		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E163K	ENST00000258390.7	37	c.487	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.433253	0.96150	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.11169	2.8;2.8	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	M	0.73217	2.22	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.993	T	0.02743	-1.1116	10	0.72032	D	0.01	.	19.7948	0.96474	0.0:1.0:0.0:0.0	.	163;163;157	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	K	157;163	ENSP00000386694:E157K;ENSP00000258390:E163K	ENSP00000258390:E163K	E	-	1	0	DOCK10	225459422	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.175000	0.77632	2.687000	0.91594	0.650000	0.86243	GAA	DOCK10	-	NULL		0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225751178	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	T	T	225751178	C	T	225751178	3	4	58	1	0	0	0	0	1	0	0	0	4695	835	29	1	6281	1	DOCK10	2	225751178	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3456462	225751178	17448195	232	7982										
COL4A3	1285	genome.wustl.edu	37	chr2	228121064	228121064	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgttcttttctttagggagtCaagggcaacaggggtttccc	12	8	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:228121064C>G	ENST00000396578.3	+	17	1101	c.939C>G	c.(937-939)gtC>gtG	p.V313V	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	313	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.V313V(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTAGGGAGTCAAGGGCAACA	0.443																																																	2	Substitution - coding silent(2)	cervix(2)											122	113	116					2																	228121064		1850	4094	5944	SO:0001819	synonymous_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.939C>G	2.37:g.228121064C>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V313	ENST00000396578.3	37	c.939	CCDS42829.1	2																																																																																			COL4A3	-	pfam_Collagen		0.443	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091		228121064	1	no_errors	ENST00000396578	ensembl	human	known	70_37	silent	SNP	1.000	G	G	228121064	C	G	228121064	2	3	58	1	0	0	0	0	0	0	0	1	3696	813	29	1		1	COL4A3	2	228121064	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2369886	228121064	15078309	233	7983										
SLC16A14	151473	genome.wustl.edu	37	chr2	230910660	230910660	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacggcagaataaaaatactGaggacaagggtgaagttggc	13	5	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:230910660G>T	ENST00000295190.4	-	4	1640	c.1182C>A	c.(1180-1182)ctC>ctA	p.L394L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	394						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L394L(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TAAAAATACTGAGGACAAGGG	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											105	89	94					2																	230910660		2203	4300	6503	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1182C>A	2.37:g.230910660G>T			A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L394	ENST00000295190.4	37	c.1182	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.488	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	G	NM_152527		230910660	-1	no_errors	ENST00000295190	ensembl	human	known	70_37	silent	SNP	1.000	T	T	230910660	G	T	230910660	2	4	58	1	0	0	0	0	0	0	0	1	14437	1277	45	3		3	SLC16A14	2	230910660	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2789596	230910660	12288713	234	7984										
GIGYF2	26058	genome.wustl.edu	37	chr2	233651973	233651973	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggaacaaaatggagaagatGaagatggaggttggcgacta	15	3	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:233651973G>A	ENST00000409547.1	+	11	957	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GIGYF2_ENST00000373563.4_Missense_Mutation_p.E216K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E238K|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E238K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E238K|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E47K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E216K	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	216	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E216K(1)|p.E238K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGAGAAGATGAAGATGGAGG	0.473																																																	2	Substitution - Missense(2)	cervix(2)											118	122	121					2																	233651973		2203	4300	6503	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.646G>A	2.37:g.233651973G>A	ENSP00000386537:p.Glu216Lys		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E238K	ENST00000409547.1	37	c.712	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.386965	0.95988	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.79845	-0.99;-0.75;-0.99;-0.75;-1.0;-0.82;-0.99;-0.93;-1.31;-0.84	5.93	5.93	0.95920	.	0.107754	0.64402	D	0.000007	D	0.83889	0.5352	L	0.39898	1.24	0.50632	D	0.999888	D;D;P;P	0.58620	0.983;0.972;0.501;0.949	P;P;B;P	0.55455	0.74;0.776;0.156;0.694	T	0.82934	-0.0211	10	0.46703	T	0.11	-21.9064	20.3311	0.98718	0.0:0.0:1.0:0.0	.	47;238;216;216	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	K	238;165;216;238;216;216;165;216;238;216;47;47;43	ENSP00000362667:E238K;ENSP00000362664:E216K;ENSP00000386765:E238K;ENSP00000386537:E216K;ENSP00000404195:E165K;ENSP00000387070:E216K;ENSP00000387170:E238K;ENSP00000410297:E216K;ENSP00000392218:E47K;ENSP00000411505:E47K	ENSP00000362664:E216K	E	+	1	0	GIGYF2	233360217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.797000	0.96272	0.655000	0.94253	GAA	GIGYF2	-	NULL		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	G	NM_001103146		233651973	1	no_errors	ENST00000373566	ensembl	human	known	70_37	missense	SNP	1.000	A	A	233651973	G	A	233651973	3	1	58	1	0	0	0	0	1	0	0	0	6397	1291	45	1	742	1	GIGYF2	2	233651973	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2741313	233651973	9547400	235	7985										
SAG	6295	genome.wustl.edu	37	chr2	234255520	234255520	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaaagatgcaggagaagctGaggaggggaagagagacaag	18	3	0	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:234255520G>A	ENST00000409110.1	+	16	1410	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	394					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)	p.E394K(2)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGGAGAAGCTGAGGAGGGGAA	0.428																																																	2	Substitution - Missense(2)	cervix(2)											95	99	98					2																	234255520		1994	4157	6151	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.1180G>A	2.37:g.234255520G>A	ENSP00000386444:p.Glu394Lys		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.E394K	ENST00000409110.1	37	c.1180	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	g	7.791	0.711534	0.15306	.	.	ENSG00000130561	ENST00000252857;ENST00000409110	T	0.07021	3.23	4.87	3.0	0.34707	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.229840	0.43110	D	0.000611	T	0.03520	0.0101	N	0.08118	0	0.32540	N	0.533726	B	0.02656	0.0	B	0.04013	0.001	T	0.36696	-0.9737	10	0.09338	T	0.73	-17.9404	7.8242	0.29305	0.2054:0.0:0.7946:0.0	.	394	P10523	ARRS_HUMAN	K	394	ENSP00000386444:E394K	ENSP00000252857:E394K	E	+	1	0	SAG	233920259	0.987000	0.35691	0.221000	0.23827	0.308000	0.27856	2.191000	0.42640	0.536000	0.28733	0.651000	0.88453	GAG	SAG	-	superfamily_Ig_E-set		0.428	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	G	NM_000541		234255520	1	no_errors	ENST00000409110	ensembl	human	known	70_37	missense	SNP	0.447	A	A	234255520	G	A	234255520	3	1	58	1	0	0	0	0	1	0	0	0	13838	1291	45	1	1238	1	SAG	2	234255520	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	603547	234255520	8943853	236	7986										
HJURP	55355	genome.wustl.edu	37	chr2	234763116	234763116	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtcgtcttccacgtcctCgccctccatggcgcgcagcg	11	18	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:234763116C>G	ENST00000411486.2	-	1	96	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	HJURP_ENST00000441687.1_Missense_Mutation_p.E11Q|HJURP_ENST00000432087.1_Missense_Mutation_p.E11Q	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	11					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.E11Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCACGTCCTCGCCCTCCATG	0.672											OREG0003841	type=REGULATORY REGION|Gene=AK074809|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	cervix(1)											21	24	23					2																	234763116		2202	4299	6501	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.31G>C	2.37:g.234763116C>G	ENSP00000414109:p.Glu11Gln	2376	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.E11Q	ENST00000411486.2	37	c.31	CCDS33406.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.373245|2.373245	0.42105|0.42105	.|.	.|.	ENSG00000123485|ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924|ENST00000454020	T;T;T;T|T	0.10960|0.37058	3.11;3.13;3.13;2.82|1.22	3.68|3.68	-3.05|-3.05	0.05396|0.05396	.|.	1.942790|.	0.02613|.	N|.	0.102358|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.31040|.	0.262;0.209;0.305|.	B;B;B|.	0.21360|.	0.025;0.034;0.026|.	T|T	0.34576|0.34576	-0.9823|-0.9823	10|7	0.39692|0.87932	T|D	0.17|0	-0.8594|-0.8594	7.1428|7.1428	0.25566|0.25566	0.0:0.1836:0.5432:0.2732|0.0:0.1836:0.5432:0.2732	.|.	11;11;11|.	Q8NCD3-3;Q8NCD3-2;Q8NCD3|.	.;.;HJURP_HUMAN|.	Q|P	11|2	ENSP00000414109:E11Q;ENSP00000407208:E11Q;ENSP00000401944:E11Q;ENSP00000393253:E11Q|ENSP00000414051:R2P	ENSP00000414109:E11Q|ENSP00000414051:R2P	E|R	-|-	1|2	0|0	HJURP|HJURP	234427855|234427855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.397000|-0.397000	0.07269|0.07269	-0.705000|-0.705000	0.05035|0.05035	-0.229000|-0.229000	0.12294|0.12294	GAG|CGA	HJURP	-	NULL		0.672	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	C	NM_018410		234763116	-1	no_errors	ENST00000411486	ensembl	human	known	70_37	missense	SNP	0.000	G	G	234763116	C	G	234763116	3	3	58	1	0	0	0	0	1	0	0	0	7209	893	31	1	2251	1	HJURP	2	234763116	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	507596	234763116	8436257	237	7987										
MLPH	79083	genome.wustl.edu	37	chr2	238419644	238419644	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctgcagagtcgtgaagatCggctcactggagtggtacta	13	10	1	3	rs368834843	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:238419644C>T	ENST00000264605.3	+	4	639	c.345C>T	c.(343-345)atC>atT	p.I115I	MLPH_ENST00000338530.4_Silent_p.I115I|MLPH_ENST00000409373.1_Silent_p.I115I|MLPH_ENST00000410032.1_Silent_p.I115I|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.I115I	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	115	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.I115I(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TCGTGAAGATCGGCTCACTGG	0.572													C|||	3	0.000599042	0	0	5008	,	,		19158	0		0	False		,,,				2504	0.0031																1	Substitution - coding silent(1)	cervix(1)						C	,	0,4406		0,0,2203	215	212	213		345,345	-9.5	0	2		213	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MLPH	NM_001042467.1,NM_024101.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	115/573,115/601	238419644	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.345C>T	2.37:g.238419644C>T			B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.I115	ENST00000264605.3	37	c.345	CCDS2518.1	2																																																																																			MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.572	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	C	NM_024101		238419644	1	no_errors	ENST00000264605	ensembl	human	known	70_37	silent	SNP	0.002	T	T	238419644	C	T	238419644	2	4	58	1	0	0	0	0	0	0	0	1	9656	874	31	1		1	MLPH	2	238419644	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3656528	238419644	4779729	238	7988										
GPR35	2859	genome.wustl.edu	37	chr2	241570131	241570131	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtgccctcctggagacgatCcgtcgcgccctgtacataac	10	15	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:241570131C>G	ENST00000319838.5	+	6	1704	c.762C>G	c.(760-762)atC>atG	p.I254M	GPR35_ENST00000407714.1_Missense_Mutation_p.I254M|GPR35_ENST00000430267.1_Missense_Mutation_p.I254M|GPR35_ENST00000438013.2_Missense_Mutation_p.I285M|GPR35_ENST00000403859.1_Missense_Mutation_p.I254M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.I254M(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGGAGACGATCCGTCGCGCCC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											141	119	126					2																	241570131		2203	4300	6503	SO:0001583	missense	2859				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.762C>G	2.37:g.241570131C>G	ENSP00000322731:p.Ile254Met		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I285M	ENST00000319838.5	37	c.855	CCDS2541.1	2	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996135	0.19043	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	3.34	0.384	0.16244	GPCR, rhodopsin-like superfamily (1);	0.271785	0.32624	U	0.005859	T	0.35335	0.0928	M	0.68952	2.095	0.09310	N	1	B;B;B	0.25390	0.101;0.125;0.015	B;B;B	0.35182	0.13;0.197;0.082	T	0.33497	-0.9866	10	0.42905	T	0.14	-4.5772	6.47	0.22003	0.0:0.5381:0.0:0.4619	.	339;285;254	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	254;254;285;254;254	ENSP00000322731:I254M;ENSP00000385140:I254M;ENSP00000415890:I285M;ENSP00000384263:I254M;ENSP00000411788:I254M	ENSP00000322731:I254M	I	+	3	3	GPR35	241218804	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.260000	0.08708	-0.035000	0.13691	0.305000	0.20034	ATC	GPR35	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.622	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPR35	HGNC	protein_coding	OTTHUMT00000325631.1	C	NM_001195382		241570131	1	no_errors	ENST00000438013	ensembl	human	known	70_37	missense	SNP	0.001	G	G	241570131	C	G	241570131	3	3	58	1	0	0	0	0	1	0	0	0	6709	845	30	1	764	1	GPR35	2	241570131	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3150487	241570131	1629242	239	7989										
HDLBP	3069	genome.wustl.edu	37	chr2	242186507	242186507	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctcctttcccaatgatattCttgtgaaactgtttgaagat	6	9	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:242186507C>G	ENST00000391975.1	-	15	2009	c.1782G>C	c.(1780-1782)aaG>aaC	p.K594N	HDLBP_ENST00000391976.2_Missense_Mutation_p.K594N|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000310931.4_Missense_Mutation_p.K594N|HDLBP_ENST00000427183.2_Missense_Mutation_p.K561N|AC104841.1_ENST00000578965.1_RNA	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	594	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.K594N(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAATGATATTCTTGTGAAACT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											123	108	113					2																	242186507		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1782G>C	2.37:g.242186507C>G	ENSP00000375836:p.Lys594Asn		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.K594N	ENST00000391975.1	37	c.1782	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.085824|3.085824	0.55861|0.55861	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.32023	.|1.47;1.47;1.47;1.47;1.47	6.17|6.17	2.48|2.48	0.30137|0.30137	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.042294	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.73372|0.73372	2.23|2.23	0.80722|0.80722	D|D	1|1	.|D;P	.|0.63046	.|0.992;0.542	.|P;P	.|0.60473	.|0.875;0.533	T|T	0.32025|0.32025	-0.9922|-0.9922	5|10	.|0.32370	.|T	.|0.25	-46.6891|-46.6891	12.2945|12.2945	0.54838|0.54838	0.0:0.7932:0.0:0.2068|0.0:0.7932:0.0:0.2068	.|.	.|561;594	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	Q|N	403|594;594;594;561;103	.|ENSP00000375836:K594N;ENSP00000375837:K594N;ENSP00000312042:K594N;ENSP00000399139:K561N;ENSP00000388876:K103N	.|ENSP00000312042:K594N	E|K	-|-	1|3	0|2	HDLBP|HDLBP	241835180|241835180	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.470000|0.470000	0.32858|0.32858	1.187000|1.187000	0.32090|0.32090	0.198000|0.198000	0.20407|0.20407	-0.150000|-0.150000	0.13652|0.13652	GAA|AAG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.413	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	C	NM_203346		242186507	-1	no_errors	ENST00000310931	ensembl	human	known	70_37	missense	SNP	1.000	G	G	242186507	C	G	242186507	3	3	58	1	0	0	0	0	1	0	0	0	7045	912	32	1	2080	1	HDLBP	2	242186507	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	616376	242186507	1012866	240	7990										
FARP2	9855	genome.wustl.edu	37	chr2	242430942	242430942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctccccaggatcccccaacGaggtatctctggagcaggag	11	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:242430942G>C	ENST00000264042.3	+	24	2805	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	879					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E879Q(1)|p.E879K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ATCCCCCAACGAGGTATCTCT	0.627																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|cervix(1)											39	43	42					2																	242430942		2203	4299	6502	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2635G>C	2.37:g.242430942G>C	ENSP00000264042:p.Glu879Gln		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E879Q	ENST00000264042.3	37	c.2635	CCDS33424.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.46|17.46	3.394833|3.394833	0.62066|0.62066	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000264042|ENST00000444371	T|.	0.11712|.	2.75|.	4.73|4.73	2.89|2.89	0.33648|0.33648	.|.	0.468713|.	0.24463|.	N|.	0.038301|.	T|T	0.61850|0.61850	0.2380|0.2380	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.57124|0.57124	-0.7865|-0.7865	10|5	0.48119|.	T|.	0.1|.	.|.	9.9057|9.9057	0.41375|0.41375	0.0765:0.1401:0.7834:0.0|0.0765:0.1401:0.7834:0.0	.|.	879|.	O94887|.	FARP2_HUMAN|.	Q|P	879|72	ENSP00000264042:E879Q|.	ENSP00000264042:E879Q|.	E|R	+|+	1|2	0|0	FARP2|FARP2	242079615|242079615	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	4.483000|4.483000	0.60264|0.60264	0.526000|0.526000	0.28541|0.28541	-0.176000|-0.176000	0.13171|0.13171	GAG|CGA	FARP2	-	NULL		0.627	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242430942	1	no_errors	ENST00000264042	ensembl	human	known	70_37	missense	SNP	0.995	C	C	242430942	G	C	242430942	3	2	58	1	0	0	0	0	1	0	0	0	5695	1059	37	1	2725	1	FARP2	2	242430942	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	244435	242430942	768431	241	7991										
IL5RA	3568	genome.wustl.edu	37	chr3	3139885	3139885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacaagccaggtgcagtgaaGggaaacttggtatgacctta	12	7	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:3139885G>A	ENST00000446632.2	-	6	1031	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	IL5RA_ENST00000430514.2_Missense_Mutation_p.L153F|IL5RA_ENST00000383846.1_Missense_Mutation_p.L153F|IL5RA_ENST00000311981.8_Missense_Mutation_p.L153F|IL5RA_ENST00000418488.2_Missense_Mutation_p.L153F|IL5RA_ENST00000256452.3_Missense_Mutation_p.L153F|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.L153F|IL5RA_ENST00000438560.1_Missense_Mutation_p.L153F	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	153					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L153F(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GTGCAGTGAAGGGAAACTTGG	0.423																																					GBM(169;430 2801 24955 28528)												1	Substitution - Missense(1)	cervix(1)											212	219	216					3																	3139885		2203	4300	6503	SO:0001583	missense	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.457C>T	3.37:g.3139885G>A	ENSP00000412209:p.Leu153Phe		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.L153F	ENST00000446632.2	37	c.457	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.377834	0.95945	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.72	5.72	0.89469	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.81725	0.4883	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80674	-0.1277	10	0.28530	T	0.3	-27.8828	16.6161	0.84916	0.0:0.0:1.0:0.0	.	153;153;153;153;153	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	F	153	ENSP00000412209:L153F;ENSP00000390753:L153F;ENSP00000256452:L153F;ENSP00000388858:L153F;ENSP00000373358:L153F;ENSP00000309196:L153F;ENSP00000400400:L153F;ENSP00000392059:L153F;ENSP00000398117:L153F	ENSP00000256452:L153F	L	-	1	0	IL5RA	3114885	1.000000	0.71417	0.692000	0.30179	0.782000	0.44232	3.424000	0.52764	2.691000	0.91804	0.655000	0.94253	CTT	IL5RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.423	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	G			3139885	-1	no_errors	ENST00000256452	ensembl	human	known	70_37	missense	SNP	0.985	A	A	3139885	G	A	3139885	3	1	58	1	0	0	0	0	1	0	0	0	7720	1000	35	4	859	4	IL5RA	3	3139885	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		3139885	194882545	242	7992										
BHLHE40	8553	genome.wustl.edu	37	chr3	5025226	5025226	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcctctgccgcagccctctCtagcttcatgaacccagaca	7	18	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:5025226C>G	ENST00000256495.3	+	5	1691	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	363					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S363C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GCAGCCCTCTCTAGCTTCATG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											146	137	140					3																	5025226		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1088C>G	3.37:g.5025226C>G	ENSP00000256495:p.Ser363Cys		Q96TD3	Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.S363C	ENST00000256495.3	37	c.1088	CCDS2565.1	3	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011798	0.35511	.	.	ENSG00000134107	ENST00000256495	D	0.83673	-1.75	5.19	1.2	0.21068	.	0.760125	0.12087	N	0.500756	T	0.79052	0.4381	L	0.39898	1.24	0.18873	N	0.999981	P	0.40619	0.724	B	0.39119	0.291	T	0.68161	-0.5482	10	0.87932	D	0	.	17.4376	0.87557	0.0:0.5198:0.4802:0.0	.	363	O14503	BHE40_HUMAN	C	363	ENSP00000256495:S363C	ENSP00000256495:S363C	S	+	2	0	BHLHE40	5000226	0.835000	0.29415	0.738000	0.30950	0.418000	0.31294	2.140000	0.42159	-0.066000	0.12998	-0.165000	0.13383	TCT	BHLHE40	-	NULL		0.592	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	C	NM_003670		5025226	1	no_errors	ENST00000256495	ensembl	human	known	70_37	missense	SNP	0.124	G	G	5025226	C	G	5025226	3	3	58	1	0	0	0	0	1	0	0	0	1424	913	32	1	1106	1	BHLHE40	3	5025226	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1885341	5025226	192997204	243	7993										
BHLHE40	8553	genome.wustl.edu	37	chr3	5025281	5025281	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgctcatgccccagagactCccttctcccttgccagctca	6	18	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:5025281C>T	ENST00000256495.3	+	5	1746	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	381					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L381L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCCAGAGACTCCCTTCTCCCT	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											145	142	143					3																	5025281		2203	4300	6503	SO:0001819	synonymous_variant	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1143C>T	3.37:g.5025281C>T			Q96TD3	Silent	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.L381	ENST00000256495.3	37	c.1143	CCDS2565.1	3																																																																																			BHLHE40	-	NULL		0.547	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	C	NM_003670		5025281	1	no_errors	ENST00000256495	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5025281	C	T	5025281	2	4	58	1	0	0	0	0	0	0	0	1	1424	842	30	1		1	BHLHE40	3	5025281	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	55	5025281	192997149	244	7994										
BRPF1	7862	genome.wustl.edu	37	chr3	9781517	9781517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggatgagggtaagggctgGagctcagagaaagtcaagaa	17	4	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:9781517G>T	ENST00000457855.1	+	2	1445	c.1434G>T	c.(1432-1434)tgG>tgT	p.W478C	BRPF1_ENST00000433861.2_Missense_Mutation_p.W478C|BRPF1_ENST00000424362.1_Missense_Mutation_p.W478C|BRPF1_ENST00000383829.2_Missense_Mutation_p.W478C|BRPF1_ENST00000302054.3_Missense_Mutation_p.W478C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	478					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W478C(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTAAGGGCTGGAGCTCAGAGA	0.587																																																	1	Substitution - Missense(1)	cervix(1)											61	60	61					3																	9781517		2203	4298	6501	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1434G>T	3.37:g.9781517G>T	ENSP00000410210:p.Trp478Cys		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.W478C	ENST00000457855.1	37	c.1434	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282888	0.59867	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.17854	2.27;2.26;3.65;2.25;2.25	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.56287	0.975;0.975;0.975;0.957	B;P;P;P	0.59221	0.385;0.854;0.485;0.719	T	0.00114	-1.2041	10	0.38643	T	0.18	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	478;478;478;478	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	478	ENSP00000402485:W478C;ENSP00000398863:W478C;ENSP00000373340:W478C;ENSP00000306297:W478C;ENSP00000410210:W478C	ENSP00000306297:W478C	W	+	3	0	BRPF1	9756517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.873000	0.98535	0.561000	0.74099	TGG	BRPF1	-	NULL		0.587	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	G	NM_001003694		9781517	1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9781517	G	T	9781517	3	4	58	1	0	0	0	0	1	0	0	0	1523	1183	41	3	1440	3	BRPF1	3	9781517	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4756236	9781517	188240913	245	7995										
BRPF1	7862	genome.wustl.edu	37	chr3	9784724	9784724	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctgaattttgatgattttGaggaggacttcaacctcatc	8	8	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:9784724G>A	ENST00000457855.1	+	6	2091	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	BRPF1_ENST00000433861.2_Missense_Mutation_p.E694K|BRPF1_ENST00000424362.1_Missense_Mutation_p.E694K|BRPF1_ENST00000383829.2_Missense_Mutation_p.E700K|BRPF1_ENST00000302054.3_Missense_Mutation_p.E694K			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	694	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E700K(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGATGATTTTGAGGAGGACTT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											90	81	84					3																	9784724		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2080G>A	3.37:g.9784724G>A	ENSP00000410210:p.Glu694Lys		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.E700K	ENST00000457855.1	37	c.2098	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622086	0.87460	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.6	5.6	0.85130	Bromodomain (6);Bromodomain, conserved site (1);	0.215344	0.47852	D	0.000205	T	0.57257	0.2041	L	0.54323	1.7	0.80722	D	1	D;D;P;D	0.89917	0.998;0.994;0.879;1.0	D;D;P;D	0.97110	0.981;0.981;0.899;1.0	T	0.48896	-0.8994	10	0.33141	T	0.24	.	19.6046	0.95575	0.0:0.0:1.0:0.0	.	694;694;700;694	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	K	694;694;700;694;694	ENSP00000402485:E694K;ENSP00000398863:E694K;ENSP00000373340:E700K;ENSP00000306297:E694K;ENSP00000410210:E694K	ENSP00000306297:E694K	E	+	1	0	BRPF1	9759724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.864000	0.99589	2.617000	0.88574	0.591000	0.81541	GAG	BRPF1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.507	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	G	NM_001003694		9784724	1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9784724	G	A	9784724	3	1	58	1	0	0	0	0	1	0	0	0	1523	1291	45	1	2120	1	BRPF1	3	9784724	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3207	9784724	188237706	246	7996										
ATP2B2	491	genome.wustl.edu	37	chr3	10384497	10384497	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcatggcccaggatgttcttCatcatggtcctggagatgag	13	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:10384497C>T	ENST00000352432.4	-	18	2925	c.2856G>A	c.(2854-2856)atG>atA	p.M952I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.M907I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.M952I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.M938I|ATP2B2_ENST00000397077.1_Missense_Mutation_p.M907I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	952					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.M952I(1)|p.M907I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGTTCTTCATCATGGTCC	0.637																																					Ovarian(125;1619 1709 15675 19819 38835)												2	Substitution - Missense(2)	cervix(2)											161	127	139					3																	10384497		2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2856G>A	3.37:g.10384497C>T	ENSP00000324172:p.Met952Ile		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.M952I	ENST00000352432.4	37	c.2856	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	c	12.70	2.016467	0.35606	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	4.0	4.0	0.46444	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.089367	0.85682	D	0.000000	D	0.83188	0.5200	L	0.42686	1.345	0.47905	D	0.999541	B;B;B	0.19706	0.038;0.005;0.012	B;B;B	0.19666	0.013;0.026;0.019	T	0.80441	-0.1381	10	0.39692	T	0.17	-40.4095	16.456	0.84012	0.0:1.0:0.0:0.0	.	887;919;952	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	I	952;907;907;952;938;887;141;808;952	ENSP00000324172:M952I;ENSP00000373311:M907I;ENSP00000380267:M907I;ENSP00000353414:M952I;ENSP00000344677:M938I;ENSP00000414854:M808I	ENSP00000342954:M952I	M	-	3	0	ATP2B2	10359497	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.016000	0.29976	1.935000	0.56089	0.306000	0.20318	ATG	ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.637	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	C	NM_001683		10384497	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10384497	C	T	10384497	3	4	58	1	0	0	0	0	1	0	0	0	1141	826	29	1	895	1	ATP2B2	3	10384497	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	599773	10384497	187637933	247	7997										
FBLN2	2199	genome.wustl.edu	37	chr3	13679362	13679362	+	Frame_Shift_Del	DEL	C	C	-													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgaagctctggaggcagggCtccgtcaccaccttcctggc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:13679362delC	ENST00000295760.7	+	17	3567	c.3498delC	c.(3496-3498)ggcfs	p.G1166fs	FBLN2_ENST00000535798.1_Frame_Shift_Del_p.G1192fs|FBLN2_ENST00000404922.3_Frame_Shift_Del_p.G1213fs|FBLN2_ENST00000492059.1_Frame_Shift_Del_p.G1213fs	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1166	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGAGGCAGGGCTCCGTCACCA	0.657																																																	0													109	120	117					3																	13679362		2102	4230	6332	SO:0001589	frameshift_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3498delC	3.37:g.13679362delC	ENSP00000295760:p.Gly1166fs		B7Z9C5|Q8IUI0|Q8IUI1	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.S1214fs	ENST00000295760.7	37	c.3639	CCDS46762.1	3																																																																																			FBLN2	-	NULL		0.657	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	C	NM_001004019		13679362	1	no_errors	ENST00000404922	ensembl	human	known	70_37	frame_shift_del	DEL	0.989	-	-	13679362	C	-	13679362	7	5	58	1	0	1	0	1	0	0	0	0	5717	784	28	0	2395	0	FBLN2	3	13679362	Frame_Shift_Del	DEL	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3294865	13679362	184343068	248	7998										
ZFYVE20	64145	genome.wustl.edu	37	chr3	15131981	15131981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atatccttgggtccctgactCtgctcgatcatccccttctc	6	16	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:15131981C>T	ENST00000253699.3	-	5	827	c.214G>A	c.(214-216)Gag>Aag	p.E72K	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.E72K|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E72K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	72					blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E72K(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTCCCTGACTCTGCTCGATCA	0.423																																																	1	Substitution - Missense(1)	cervix(1)											211	185	194					3																	15131981		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.214G>A	3.37:g.15131981C>T	ENSP00000253699:p.Glu72Lys		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E72K	ENST00000253699.3	37	c.214	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650414	0.87958	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.72615	0.6;0.6;-0.67	5.7	5.7	0.88788	.	0.101709	0.64402	D	0.000003	T	0.64148	0.2572	L	0.29908	0.895	0.80722	D	1	B;P	0.38922	0.008;0.651	B;B	0.38378	0.006;0.272	T	0.65220	-0.6221	10	0.46703	T	0.11	-19.5054	19.8437	0.96701	0.0:1.0:0.0:0.0	.	72;72	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	K	72	ENSP00000253699:E72K;ENSP00000422551:E72K;ENSP00000391039:E72K	ENSP00000253699:E72K	E	-	1	0	ZFYVE20	15106985	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.769000	0.68865	2.693000	0.91896	0.585000	0.79938	GAG	ZFYVE20	-	NULL		0.423	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	C	NM_022340		15131981	-1	no_errors	ENST00000253699	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15131981	C	T	15131981	3	4	58	1	0	0	0	0	1	0	0	0	17696	922	32	1	2180	1	ZFYVE20	3	15131981	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1452619	15131981	182890449	249	7999										
HACL1	26061	genome.wustl.edu	37	chr3	15633186	15633186	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacaacaaggcagactcctgGcctaaaagcaaaacagaatt	7	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:15633186G>A	ENST00000321169.5	-	4	596	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HACL1_ENST00000457447.2_Splice_Site_p.P77S|HACL1_ENST00000451445.2_Splice_Site_p.P77S|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	77					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)	p.P77S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CAGACTCCTGGCCTAAAAGCA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											56	50	52					3																	15633186		2203	4300	6503	SO:0001630	splice_region_variant	26061			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.228-1C>T	3.37:g.15633186G>A			B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.P77S	ENST00000321169.5	37	c.229	CCDS2627.1	3	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388515	0.82902	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000457447	T;T;T	0.51325	1.18;1.2;0.71	5.47	5.47	0.80525	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.097832	0.64402	D	0.000001	T	0.80154	0.4571	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.86400	0.1741	10	0.62326	D	0.03	.	18.1552	0.89688	0.0:0.0:1.0:0.0	.	77;77;77	B4DXI5;E9PEN4;Q9UJ83	.;.;HACL1_HUMAN	S	77	ENSP00000323811:P77S;ENSP00000403656:P77S;ENSP00000404883:P77S	ENSP00000323811:P77S	P	-	1	0	HACL1	15608190	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.011000	0.88624	2.596000	0.87737	0.585000	0.79938	CCA	HACL1	-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.403	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	G	NM_012260	Missense_Mutation	15633186	-1	no_errors	ENST00000321169	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15633186	G	A	15633186	5	1	58	1	0	0	0	0	0	0	1	0	6961	1217	42	4	1563	4	HACL1	3	15633186	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	501205	15633186	182389244	250	8000										
CNOT10	25904	genome.wustl.edu	37	chr3	32776386	32776386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgctacctgaagaacagcaaGatccaaagcaggaaaatggg	11	8	0	3	rs369914627		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:32776386G>C	ENST00000328834.5	+	12	1748	c.1432G>C	c.(1432-1434)Gat>Cat	p.D478H	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.D538H|CNOT10_ENST00000331889.6_Missense_Mutation_p.D478H|CNOT10_ENST00000538368.1_Missense_Mutation_p.D250H	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	478				D -> G (in Ref. 1; BAB14108). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D478H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGAACAGCAAGATCCAAAGCA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											166	167	167					3																	32776386		2203	4300	6503	SO:0001583	missense	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1432G>C	3.37:g.32776386G>C	ENSP00000330060:p.Asp478His		B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.D538H	ENST00000328834.5	37	c.1612	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919240	0.52546	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T;T	0.45668	1.42;1.43;0.89;1.42	5.76	4.85	0.62838	Tetratricopeptide-like helical (1);	0.130487	0.64402	D	0.000001	T	0.55081	0.1898	L	0.54323	1.7	0.80722	D	1	D;D;P;P	0.62365	0.991;0.968;0.915;0.945	P;P;P;P	0.60345	0.873;0.747;0.647;0.564	T	0.47420	-0.9119	10	0.32370	T	0.25	-29.8219	16.226	0.82293	0.0:0.0:0.8667:0.1333	.	538;478;477;478	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	H	478;478;250;538;25	ENSP00000329376:D478H;ENSP00000330060:D478H;ENSP00000442552:D250H;ENSP00000399862:D538H	ENSP00000330060:D478H	D	+	1	0	CNOT10	32751390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.602000	0.98312	2.725000	0.93324	0.655000	0.94253	GAT	CNOT10	-	NULL		0.443	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	G	NM_015442		32776386	1	no_errors	ENST00000454516	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32776386	G	C	32776386	3	2	58	1	0	0	0	0	1	0	0	0	3623	942	33	1	1478	1	CNOT10	3	32776386	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	17143200	32776386	165246044	251	8001										
VILL	50853	genome.wustl.edu	37	chr3	38043241	38043241	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggccctgaacagcaacgctGaggaactagatgtcatgtat	11	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38043241G>T	ENST00000283713.6	+	13	1635	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*	VILL_ENST00000465644.1_Nonsense_Mutation_p.E175*|VILL_ENST00000383759.2_Nonsense_Mutation_p.E457*			O15195	VILL_HUMAN	villin-like	457					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.E457*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGCAACGCTGAGGAACTAGA	0.612																																																	1	Substitution - Nonsense(1)	cervix(1)											137	125	129					3																	38043241		2203	4300	6503	SO:0001587	stop_gained	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1369G>T	3.37:g.38043241G>T	ENSP00000283713:p.Glu457*		A8MZP1|Q9BT80|Q9BWH7	Nonsense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E457*	ENST00000283713.6	37	c.1369	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068778	0.76301	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	4.81	2.98	0.34508	.	0.379401	0.28946	N	0.013630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-26.069	11.0577	0.47929	0.2189:0.0:0.7811:0.0	.	.	.	.	X	457;457;443;175	.	ENSP00000283713:E457X	E	+	1	0	VILL	38018245	0.991000	0.36638	0.867000	0.34043	0.076000	0.17211	3.098000	0.50259	1.184000	0.42957	-0.537000	0.04273	GAG	VILL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	G	NM_015873		38043241	1	no_errors	ENST00000283713	ensembl	human	known	70_37	nonsense	SNP	0.953	T	T	38043241	G	T	38043241	4	4	58	1	0	0	0	0	0	1	0	0	17196	1291	45	3	1415	3	VILL	3	38043241	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5266855	38043241	159979189	252	8002										
SCN5A	6331	genome.wustl.edu	37	chr3	38648291	38648291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttaggcaccggtagccctCcggacatgtcctgcagccac	10	16	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38648291C>T	ENST00000333535.4	-	9	1158	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SCN5A_ENST00000425664.1_Missense_Mutation_p.E337K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E337K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E337K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E337K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E337K|SCN5A_ENST00000413689.1_Missense_Mutation_p.E337K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E337K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E337K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E337K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	337					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.E337K(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTAGCCCTCCGGACATGTC	0.602																																																	2	Substitution - Missense(2)	cervix(2)											89	104	99					3																	38648291		2048	4191	6239	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1009G>A	3.37:g.38648291C>T	ENSP00000328968:p.Glu337Lys		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.E337K	ENST00000333535.4	37	c.1009	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436878	0.62955	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96554	-3.95;-3.99;-3.99;-3.98;-3.99;-3.95;-3.99;-4.05;-3.98;-3.99	4.73	4.73	0.59995	Ion transport (1);	0.053238	0.85682	D	0.000000	D	0.96611	0.8894	M	0.61703	1.905	0.49798	D	0.999826	B;P;B;D;B;D	0.63046	0.01;0.775;0.026;0.992;0.307;0.971	B;P;B;P;B;P	0.57152	0.015;0.526;0.022;0.814;0.112;0.717	D	0.96310	0.9228	10	0.59425	D	0.04	.	12.3585	0.55188	0.0:0.9187:0.0:0.0813	.	337;337;337;337;337;337	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	K	337	ENSP00000398962:E337K;ENSP00000398266:E337K;ENSP00000410257:E337K;ENSP00000388797:E337K;ENSP00000397915:E337K;ENSP00000416634:E337K;ENSP00000328968:E337K;ENSP00000399524:E337K;ENSP00000403355:E337K;ENSP00000413996:E337K	ENSP00000328968:E337K	E	-	1	0	SCN5A	38623295	0.998000	0.40836	0.956000	0.39512	0.220000	0.24768	3.920000	0.56446	2.462000	0.83206	0.557000	0.71058	GAG	SCN5A	-	pfam_Ion_trans_dom		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38648291	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	0.998	T	T	38648291	C	T	38648291	3	4	58	1	0	0	0	0	1	0	0	0	13952	864	30	1	5121	1	SCN5A	3	38648291	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	605050	38648291	159374139	253	8003										
SCN11A	11280	genome.wustl.edu	37	chr3	38926868	38926868	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatcaatggtgctacattctGatagtatactggtaacatca	8	7	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38926868G>C	ENST00000302328.3	-	17	3173	c.2975C>G	c.(2974-2976)tCa>tGa	p.S992*	SCN11A_ENST00000444237.2_Nonsense_Mutation_p.S992*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.S992*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.S954*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	992					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S992*(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTACATTCTGATAGTATACT	0.438																																																	1	Substitution - Nonsense(1)	cervix(1)											137	125	129					3																	38926868		2203	4300	6503	SO:0001587	stop_gained	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2975C>G	3.37:g.38926868G>C	ENSP00000307599:p.Ser992*		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S992*	ENST00000302328.3	37	c.2975	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	44	10.815707	0.99472	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.06	5.06	0.68205	.	725.510000	0.01500	U	0.017478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4536	0.75297	0.0:0.0:1.0:0.0	.	.	.	.	X	992;992;954;992	.	ENSP00000307599:S992X	S	-	2	0	SCN11A	38901872	0.998000	0.40836	0.740000	0.30986	0.990000	0.78478	5.003000	0.63959	2.611000	0.88343	0.655000	0.94253	TCA	SCN11A	-	pfam_Na_trans_assoc		0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	G	NM_014139		38926868	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	nonsense	SNP	0.749	C	C	38926868	G	C	38926868	4	2	58	1	0	0	0	0	0	1	0	0	13943	1294	45	1	2440	1	SCN11A	3	38926868	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	278577	38926868	159095562	254	8004										
SCN11A	11280	genome.wustl.edu	37	chr3	38946787	38946787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgatagattctgggacagtCgtttggtttgctctaggagc	14	6	2	2	rs373827019		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38946787C>A	ENST00000302328.3	-	11	1697	c.1499G>T	c.(1498-1500)cGa>cTa	p.R500L	SCN11A_ENST00000444237.2_Missense_Mutation_p.R500L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R500L|SCN11A_ENST00000456224.3_Missense_Mutation_p.R500L|AC116038.1_ENST00000401122.1_RNA	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	500					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R500L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGGACAGTCGTTTGGTTTG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											223	204	211					3																	38946787		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1499G>T	3.37:g.38946787C>A	ENSP00000307599:p.Arg500Leu		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R500L	ENST00000302328.3	37	c.1499	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042262	0.75732	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96104	-3.91;-3.91;-3.87;-3.77	5.08	5.08	0.68730	.	3.553810	0.01151	N	0.006439	D	0.96466	0.8847	L	0.31476	0.935	0.35198	D	0.774041	D	0.89917	1.0	D	0.85130	0.997	D	0.88999	0.3420	10	0.20519	T	0.43	.	13.9849	0.64328	0.0:1.0:0.0:0.0	.	500	Q9UI33	SCNBA_HUMAN	L	500	ENSP00000307599:R500L;ENSP00000400945:R500L;ENSP00000416757:R500L;ENSP00000408028:R500L	ENSP00000307599:R500L	R	-	2	0	SCN11A	38921791	0.405000	0.25336	0.999000	0.59377	0.991000	0.79684	0.682000	0.25335	2.341000	0.79615	0.563000	0.77884	CGA	SCN11A	-	NULL		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38946787	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.980	A	A	38946787	C	A	38946787	3	1	58	1	0	0	0	0	1	0	0	0	13943	884	31	3	3940	3	SCN11A	3	38946787	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	19919	38946787	159075643	255	8005										
ZNF619	285267	genome.wustl.edu	37	chr3	40528735	40528735	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaaaccttcagatataactCaaaactgtcacggcatcaga	6	10	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:40528735C>G	ENST00000314686.5	+	6	1091	c.686C>G	c.(685-687)tCa>tGa	p.S229*	ZNF619_ENST00000521353.1_Nonsense_Mutation_p.S285*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.S201*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.S285*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.S236*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	229					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.S229*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGATATAACTCAAAACTGTCA	0.428																																																	1	Substitution - Nonsense(1)	cervix(1)											60	61	61					3																	40528735		2203	4300	6503	SO:0001587	stop_gained	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.686C>G	3.37:g.40528735C>G	ENSP00000322529:p.Ser229*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S285*	ENST00000314686.5	37	c.854		3	.	.	.	.	.	.	.	.	.	.	C	35	5.548294	0.96488	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0164	0.47691	0.0:1.0:0.0:0.0	.	.	.	.	X	229;285;245;201;236;285;245	.	ENSP00000322529:S229X	S	+	2	0	ZNF619	40503739	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	0.397000	0.20883	1.499000	0.48617	0.563000	0.77884	TCA	ZNF619	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40528735	1	no_errors	ENST00000447116	ensembl	human	known	70_37	nonsense	SNP	0.009	G	G	40528735	C	G	40528735	4	3	58	1	0	0	0	0	0	1	0	0	18073	838	29	1	894	1	ZNF619	3	40528735	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1581948	40528735	157493695	256	8006										
C3orf39	84892	genome.wustl.edu	37	chr3	43122913	43122913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggagggcgttgaacaccgccGagaggtgcatcctaatgcca	14	11	0	2	rs536444876		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:43122913G>A	ENST00000344697.2	-	2	356	c.11C>T	c.(10-12)tCg>tTg	p.S4L	POMGNT2_ENST00000441964.1_Missense_Mutation_p.S4L	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	4					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.S4L(1)									GAACACCGCCGAGAGGTGCAT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											12	11	11					3																	43122913		2178	4252	6430	SO:0001583	missense	84892			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.11C>T	3.37:g.43122913G>A	ENSP00000344125:p.Ser4Leu		B3KWC3|Q96SY3	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.S4L	ENST00000344697.2	37	c.11	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920372	0.33908	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	.	0.264558	0.35870	N	0.002928	T	0.67135	0.2861	L	0.29908	0.895	0.41316	D	0.987148	P	0.35844	0.524	B	0.23018	0.043	T	0.71009	-0.4716	10	0.66056	D	0.02	-9.8089	18.9302	0.92561	0.0:0.0:1.0:0.0	.	4	Q8NAT1	AGO61_HUMAN	L	4	ENSP00000408992:S4L;ENSP00000344125:S4L	ENSP00000344125:S4L	S	-	2	0	C3orf39	43097917	1.000000	0.71417	0.263000	0.24496	0.237000	0.25408	8.177000	0.89688	2.714000	0.92807	0.561000	0.74099	TCG	GTDC2	-	NULL		0.637	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC2	HGNC	protein_coding	OTTHUMT00000256643.1	G	NM_032806		43122913	-1	no_errors	ENST00000344697	ensembl	human	known	70_37	missense	SNP	0.919	A	A	43122913	G	A	43122913	3	1	58	1	0	0	0	0	1	0	0	0	2234	1059	37	1	1735	1	C3orf39	3	43122913	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2594178	43122913	154899517	257	8007										
KIF15	56992	genome.wustl.edu	37	chr3	44826351	44826351	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttttaggaccatctgaatctGataatttttctcataacctg	5	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:44826351G>C	ENST00000326047.4	+	6	525	c.376G>C	c.(376-378)Gat>Cat	p.D126H		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	126	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D126H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATCTGAATCTGATAATTTTTC	0.279																																																	1	Substitution - Missense(1)	cervix(1)											36	38	38					3																	44826351		2203	4292	6495	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.376G>C	3.37:g.44826351G>C	ENSP00000324020:p.Asp126His		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.D126H	ENST00000326047.4	37	c.376	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709718	0.89018	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	T	0.72725	-0.68	5.65	5.65	0.86999	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000089	D	0.83885	0.5351	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84305	0.0507	10	0.62326	D	0.03	.	19.7238	0.96153	0.0:0.0:1.0:0.0	.	126	Q9NS87	KIF15_HUMAN	H	126;125	ENSP00000324020:D126H	ENSP00000324020:D126H	D	+	1	0	KIF15	44801355	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.649000	0.89929	0.561000	0.74099	GAT	KIF15	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.279	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	G			44826351	1	no_errors	ENST00000326047	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44826351	G	C	44826351	3	2	58	1	0	0	0	0	1	0	0	0	8297	1290	45	1	398	1	KIF15	3	44826351	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1703438	44826351	153196079	258	8008										
CDCP1	64866	genome.wustl.edu	37	chr3	45152247	45152247	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaactgccacgtcatgagctCatcctcagggaagccttctg	9	13	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:45152247C>T	ENST00000296129.1	-	4	876	c.742G>A	c.(742-744)Gag>Aag	p.E248K	CDCP1_ENST00000425231.2_Missense_Mutation_p.E248K|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	248						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E248K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTCATGAGCTCATCCTCAGGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											153	145	148					3																	45152247		2203	4300	6503	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.742G>A	3.37:g.45152247C>T	ENSP00000296129:p.Glu248Lys		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_CUB	p.E248K	ENST00000296129.1	37	c.742	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.361457	0.95877	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.33865	1.39;1.39	5.87	5.87	0.94306	CUB (1);	0.308184	0.39475	N	0.001353	T	0.60907	0.2305	M	0.67953	2.075	0.47094	D	0.999313	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.957	T	0.58393	-0.7644	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	248;248	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	K	248	ENSP00000296129:E248K;ENSP00000399342:E248K	ENSP00000296129:E248K	E	-	1	0	CDCP1	45127251	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.634000	0.67833	2.941000	0.99782	0.655000	0.94253	GAG	CDCP1	-	superfamily_CUB		0.562	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	C	NM_022842		45152247	-1	no_errors	ENST00000296129	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45152247	C	T	45152247	3	4	58	1	0	0	0	0	1	0	0	0	3098	835	29	1	1800	1	CDCP1	3	45152247	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	325896	45152247	152870183	259	8009										
TDGF1	6997	genome.wustl.edu	37	chr3	46620626	46620626	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctaaagtctttgaactggGattagttgccggtgagagac	12	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:46620626G>C	ENST00000296145.5	+	2	810	c.77G>C	c.(76-78)gGa>gCa	p.G26A	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.G10A	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	26					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.G26A(1)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTTGAACTGGGATTAGTTGCC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											196	180	186					3																	46620626		2203	4300	6503	SO:0001583	missense	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.77G>C	3.37:g.46620626G>C	ENSP00000296145:p.Gly26Ala		Q8TCC1	Missense_Mutation	SNP	pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom	p.G26A	ENST00000296145.5	37	c.77	CCDS2742.1	3	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930129	0.34096	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.68624	-0.27;-0.34	4.14	2.28	0.28536	.	0.431198	0.19993	N	0.101505	T	0.50820	0.1638	L	0.53249	1.67	0.26079	N	0.981112	P	0.42456	0.78	B	0.34931	0.192	T	0.37798	-0.9690	10	0.19147	T	0.46	.	6.2359	0.20762	0.2232:0.0:0.7768:0.0	.	26	P13385	TDGF1_HUMAN	A	10;26	ENSP00000446375:G10A;ENSP00000296145:G26A	ENSP00000296145:G26A	G	+	2	0	AC104304.1	46595630	0.815000	0.29118	0.883000	0.34634	0.786000	0.44442	0.620000	0.24403	0.647000	0.30713	0.655000	0.94253	GGA	TDGF1	-	pirsf_Cripto_growth_factor		0.383	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDGF1	HGNC	protein_coding	OTTHUMT00000257378.2	G	NM_003212		46620626	1	no_errors	ENST00000296145	ensembl	human	known	70_37	missense	SNP	0.916	C	C	46620626	G	C	46620626	3	2	58	1	0	0	0	0	1	0	0	0	15756	1174	41	1	83	1	TDGF1	3	46620626	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1468379	46620626	151401804	260	8010										
NBEAL2	23218	genome.wustl.edu	37	chr3	47042572	47042572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggcgtggaaggcagcgatGaggctgcctggcgggagcgt	21	8	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:47042572G>A	ENST00000450053.3	+	28	4566	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1279K|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1463					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.E1463K(1)|p.E840K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGCAGCGATGAGGCTGCCTG	0.627																																																	2	Substitution - Missense(2)	cervix(2)											62	78	73					3																	47042572		2141	4246	6387	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4387G>A	3.37:g.47042572G>A	ENSP00000415034:p.Glu1463Lys		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1463K	ENST00000450053.3	37	c.4387	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.657245|4.657245	0.88154|0.88154	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.56776|.	0.45;0.44|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.182766|.	0.46758|.	D|.	0.000263|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.43885|.	0.82|.	P|.	0.48304|.	0.573|.	T|T	0.50004|0.50004	-0.8878|-0.8878	10|5	0.21014|.	T|.	0.42|.	.|.	16.4095|16.4095	0.83703|0.83703	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1463|.	Q6ZNJ1|.	NBEL2_HUMAN|.	K|I	1279;1463|750	ENSP00000292309:E1279K;ENSP00000415034:E1463K|.	ENSP00000292309:E1279K|.	E|M	+|+	1|3	0|0	NBEAL2|NBEAL2	47017576|47017576	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	9.577000|9.577000	0.98196|0.98196	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|ATG	NBEAL2	-	NULL		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47042572	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47042572	G	A	47042572	3	1	58	1	0	0	0	0	1	0	0	0	10212	1291	45	1	4497	1	NBEAL2	3	47042572	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	421946	47042572	150979858	261	8011										
SLC26A6	65010	genome.wustl.edu	37	chr3	48667573	48667573	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccttcaggttcacaatgatGatggctgccaggaccgcctg	11	13	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:48667573G>A	ENST00000395550.2	-	12	1391	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000337000.8_Silent_p.I341I|SLC26A6_ENST00000383733.3_Silent_p.I448I|SLC26A6_ENST00000420764.2_Silent_p.I448I|SLC26A6_ENST00000455886.2_Silent_p.I412I|SLC26A6_ENST00000358747.6_Silent_p.I427I			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	448					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I448I(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCACAATGATGATGGCTGCCA	0.632																																					NSCLC(13;369 479 28271 30152 44026)												1	Substitution - coding silent(1)	cervix(1)											57	63	61					3																	48667573		2111	4230	6341	SO:0001819	synonymous_variant	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1344C>T	3.37:g.48667573G>A			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I448	ENST00000395550.2	37	c.1344	CCDS43087.1	3																																																																																			SLC26A6	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.632	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC26A6	HGNC	protein_coding	OTTHUMT00000345040.1	G	NM_022911		48667573	-1	no_errors	ENST00000395550	ensembl	human	known	70_37	silent	SNP	0.008	A	A	48667573	G	A	48667573	2	1	58	1	0	0	0	0	0	0	0	1	14551	1280	45	1		1	SLC26A6	3	48667573	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1625001	48667573	149354857	262	8012										
CELSR3	1951	genome.wustl.edu	37	chr3	48699501	48699501	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgggagcctgtcccagcgttCcgctgggaggacaccggctt	15	14	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:48699501C>T	ENST00000164024.4	-	1	847	c.567G>A	c.(565-567)cgG>cgA	p.R189R	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.R189R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	189					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R189R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGCGTTCCGCTGGGAGG	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											48	57	54					3																	48699501		2200	4298	6498	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.567G>A	3.37:g.48699501C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R189	ENST00000164024.4	37	c.567	CCDS2775.1	3																																																																																			CELSR3	-	NULL		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48699501	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	silent	SNP	0.001	T	T	48699501	C	T	48699501	2	4	58	1	0	0	0	0	0	0	0	1	3228	842	30	1		1	CELSR3	3	48699501	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	31928	48699501	149322929	263	8013										
WDR6	11180	genome.wustl.edu	37	chr3	49049138	49049138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggatgataaagcgagtgcaGaacctgcttggccactatct	11	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49049138G>A	ENST00000608424.1	+	2	210	c.171G>A	c.(169-171)caG>caA	p.Q57Q	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.Q6Q|WDR6_ENST00000395474.3_Silent_p.Q87Q			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	57					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Q57Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGCGAGTGCAGAACCTGCTTG	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											244	239	241					3																	49049138		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.171G>A	3.37:g.49049138G>A			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q87	ENST00000608424.1	37	c.261		3																																																																																			WDR6	-	NULL		0.547	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049138	1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49049138	G	A	49049138	2	1	58	1	0	0	0	0	0	0	0	1	17341	933	33	1		1	WDR6	3	49049138	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	349637	49049138	148973292	264	8014										
USP4	7375	genome.wustl.edu	37	chr3	49349008	49349008	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctatcaccatttgcaatgaGagaggcagacactgaggaat	11	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49349008G>C	ENST00000265560.4	-	7	821	c.775C>G	c.(775-777)Ctc>Gtc	p.L259V	USP4_ENST00000351842.4_Intron|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	259					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L259V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTGCAATGAGAGAGGCAGAC	0.507																																																	1	Substitution - Missense(1)	cervix(1)											134	125	128					3																	49349008		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.775C>G	3.37:g.49349008G>C	ENSP00000265560:p.Leu259Val		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L259V	ENST00000265560.4	37	c.775	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.211|8.211	0.800383|0.800383	0.16397|0.16397	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000265560|ENST00000431357	T|T	0.19105|0.25250	2.17|1.81	5.39|5.39	4.52|4.52	0.55395|0.55395	.|.	0.552916|.	0.19648|.	N|.	0.109295|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.10177|0.10177	-1.0641|-1.0641	10|7	0.11485|0.72032	T|D	0.65|0.01	-3.7361|-3.7361	5.3812|5.3812	0.16192|0.16192	0.1668:0.0:0.6712:0.162|0.1668:0.0:0.6712:0.162	.|.	259|.	Q13107|.	UBP4_HUMAN|.	V|C	259|15	ENSP00000265560:L259V|ENSP00000399079:S15C	ENSP00000265560:L259V|ENSP00000399079:S15C	L|S	-|-	1|2	0|0	USP4|USP4	49324012|49324012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.465000|2.465000	0.45075|0.45075	1.272000|1.272000	0.44329|0.44329	0.462000|0.462000	0.41574|0.41574	CTC|TCT	USP4	-	NULL		0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	G	NM_199443		49349008	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49349008	G	C	49349008	3	2	58	1	0	0	0	0	1	0	0	0	17102	942	33	1	2180	1	USP4	3	49349008	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	299870	49349008	148673422	265	8015										
RHOA	387	genome.wustl.edu	37	chr3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgatgggcacgttgggacaGaaatgcttgacttctggggt	15	6	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49400019G>C	ENST00000418115.1	-	4	702	c.318C>G	c.(316-318)ttC>ttG	p.F106L	RHOA_ENST00000422781.1_Missense_Mutation_p.F106L|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Missense_Mutation_p.S66C	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTTGGGACAGAAATGCTTGA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											117	107	110					3																	49400019		2203	4300	6503	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.318C>G	3.37:g.49400019G>C	ENSP00000400175:p.Phe106Leu		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F106L	ENST00000418115.1	37	c.318	CCDS2795.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.317561|5.317561	0.95682|0.95682	.|.	.|.	ENSG00000067560|ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425|ENST00000454011	T;T;T|T	0.75821|0.24538	-0.97;-0.97;-0.97|1.85	6.07|6.07	6.07|6.07	0.98685|0.98685	Small GTP-binding protein domain (1);|.	0.051069|.	0.85682|.	D|.	0.000000|.	T|T	0.39886|0.39886	0.1095|0.1095	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	B|.	0.28055|.	0.199|.	P|.	0.46659|.	0.523|.	T|T	0.03717|0.03717	-1.1010|-1.1010	10|7	0.72032|0.87932	D|D	0.01|0	.|.	19.222|19.222	0.93801|0.93801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106|.	P61586|.	RHOA_HUMAN|.	L|C	106|66	ENSP00000400175:F106L;ENSP00000413587:F106L;ENSP00000408402:F106L|ENSP00000394483:S66C	ENSP00000400175:F106L|ENSP00000394483:S66C	F|S	-|-	3|2	2|0	RHOA|RHOA	49375023|49375023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.686000|5.686000	0.68211|0.68211	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TTC|TCT	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.443	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	G	NM_001664		49400019	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49400019	G	C	49400019	3	2	58	1	0	0	0	0	1	0	0	0	13361	933	33	1	271	1	RHOA	3	49400019	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	51011	49400019	148622411	266	8016										
BSN	8927	genome.wustl.edu	37	chr3	49694913	49694913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccactcagactcaggctctGacagcaagcacgatgccact	9	15	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49694913G>A	ENST00000296452.4	+	5	8038	c.7924G>A	c.(7924-7926)Gac>Aac	p.D2642N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2642					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.D2642N(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCAGGCTCTGACAGCAAGCA	0.622																																																	1	Substitution - Missense(1)	cervix(1)											44	50	48					3																	49694913		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7924G>A	3.37:g.49694913G>A	ENSP00000296452:p.Asp2642Asn		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.D2642N	ENST00000296452.4	37	c.7924	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694522	0.30052	.	.	ENSG00000164061	ENST00000296452	T	0.20881	2.04	5.93	5.93	0.95920	.	0.108239	0.64402	D	0.000007	T	0.26521	0.0648	L	0.58101	1.795	0.39030	D	0.959913	P	0.48764	0.915	B	0.39531	0.302	T	0.07908	-1.0748	10	0.62326	D	0.03	-23.9729	19.9541	0.97213	0.0:0.0:1.0:0.0	.	2642	Q9UPA5	BSN_HUMAN	N	2642	ENSP00000296452:D2642N	ENSP00000296452:D2642N	D	+	1	0	BSN	49669917	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	7.992000	0.88273	2.815000	0.96918	0.561000	0.74099	GAC	BSN	-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49694913	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.981	A	A	49694913	G	A	49694913	3	1	58	1	0	0	0	0	1	0	0	0	1533	1290	45	1	7942	1	BSN	3	49694913	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	294894	49694913	148327517	267	8017										
RNF123	63891	genome.wustl.edu	37	chr3	49751254	49751254	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtggagcgaatccccgagGagcagtgagtggggcctggg	19	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49751254G>C	ENST00000327697.6	+	29	2977	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	RNF123_ENST00000433785.1_Missense_Mutation_p.E57Q	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	945					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E945Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AATCCCCGAGGAGCAGTGAGT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											34	36	35					3																	49751254		2203	4300	6503	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2833G>C	3.37:g.49751254G>C	ENSP00000328287:p.Glu945Gln		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E945Q	ENST00000327697.6	37	c.2833	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939915	0.73557	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.74002	-0.8	5.73	5.73	0.89815	.	0.150553	0.56097	D	0.000021	T	0.76828	0.4042	M	0.61703	1.905	0.58432	D	0.999995	B	0.27791	0.189	B	0.34991	0.193	T	0.74312	-0.3706	10	0.51188	T	0.08	-17.0577	18.8865	0.92379	0.0:0.0:1.0:0.0	.	945	Q5XPI4	RN123_HUMAN	Q	945;945;57	ENSP00000328287:E945Q	ENSP00000328287:E945Q	E	+	1	0	RNF123	49726258	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.175000	0.94831	2.713000	0.92767	0.655000	0.94253	GAG	RNF123	-	NULL		0.662	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	G	NM_022064		49751254	1	no_errors	ENST00000327697	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49751254	G	C	49751254	3	2	58	1	0	0	0	0	1	0	0	0	13463	1175	41	1	2943	1	RNF123	3	49751254	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	56341	49751254	148271176	268	8018										
MON1A	84315	genome.wustl.edu	37	chr3	49946585	49946585	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tagagctcaaaggcgcctgtCacctggagaaggggcaaagg	15	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49946585C>T	ENST00000417270.1	-	7	2247	c.1554G>A	c.(1552-1554)gtG>gtA	p.V518V	MON1A_ENST00000455683.2_Silent_p.V445V|MON1A_ENST00000296473.3_Silent_p.V607V|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	510								p.V510V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGGCGCCTGTCACCTGGAGAA	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											42	40	41					3																	49946585		2203	4300	6503	SO:0001819	synonymous_variant	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1554G>A	3.37:g.49946585C>T			B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.V607	ENST00000417270.1	37	c.1821		3																																																																																			MON1A	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1		0.592	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	HGNC	protein_coding	OTTHUMT00000345538.2	C	NM_032355		49946585	-1	no_errors	ENST00000296473	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49946585	C	T	49946585	2	4	58	1	0	0	0	0	0	0	0	1	9721	813	29	1		1	MON1A	3	49946585	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	195331	49946585	148075845	269	8019										
RBM5	10181	genome.wustl.edu	37	chr3	50137419	50137419	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtaaaaccctgtgcagattcGagaaatgatggagtccttcg	11	8	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50137419G>C	ENST00000347869.3	+	5	519	c.344G>C	c.(343-345)cGa>cCa	p.R115P	RBM5_ENST00000469838.1_Missense_Mutation_p.R115P	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	115	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R115P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCAGATTCGAGAAATGATG	0.413																																																	1	Substitution - Missense(1)	cervix(1)											94	82	86					3																	50137419		2203	4300	6503	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.344G>C	3.37:g.50137419G>C	ENSP00000343054:p.Arg115Pro		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R115P	ENST00000347869.3	37	c.344	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009262	0.75046	.	.	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000441305;ENST00000417905;ENST00000543047;ENST00000539538	T;T;T;T	0.50277	2.91;0.75;0.75;0.75	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.136231	0.51477	D	0.000099	T	0.79341	0.4429	H	0.97023	3.925	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.62184	0.879;0.899	D	0.85835	0.1394	9	.	.	.	-7.1348	20.1802	0.98196	0.0:0.0:1.0:0.0	.	115;115	P52756;E1CJT4	RBM5_HUMAN;.	P	115;115;115;115;114;114	ENSP00000343054:R115P;ENSP00000419534:R115P;ENSP00000390711:R115P;ENSP00000406119:R115P	.	R	+	2	0	RBM5	50112423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.353000	0.97080	2.777000	0.95525	0.655000	0.94253	CGA	RBM5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.413	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50137419	1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50137419	G	C	50137419	3	2	58	1	0	0	0	0	1	0	0	0	13173	1058	37	1	358	1	RBM5	3	50137419	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	190834	50137419	147885011	270	8020										
RBM5	10181	genome.wustl.edu	37	chr3	50151469	50151469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcagcctgtcaattccttGagggaagaagaaaggagaga	12	6	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50151469G>C	ENST00000347869.3	+	19	1879	c.1704G>C	c.(1702-1704)ttG>ttC	p.L568F	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	568	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L568F(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAATTCCTTGAGGGAAGAAG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											56	60	59					3																	50151469		2202	4300	6502	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1704G>C	3.37:g.50151469G>C	ENSP00000343054:p.Leu568Phe		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.L568F	ENST00000347869.3	37	c.1704	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036610	0.35893	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.16324	2.35	5.48	5.48	0.80851	.	0.296548	0.28104	N	0.016596	T	0.19366	0.0465	L	0.46157	1.445	0.80722	D	1	B;B	0.25955	0.052;0.138	B;B	0.24848	0.021;0.056	T	0.01679	-1.1297	10	0.46703	T	0.11	-2.491	16.8836	0.86070	0.0:0.0:1.0:0.0	.	258;568	Q59HE6;P52756	.;RBM5_HUMAN	F	568;567;258	ENSP00000343054:L568F	ENSP00000343054:L568F	L	+	3	2	RBM5	50126473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.976000	0.29462	2.579000	0.87056	0.555000	0.69702	TTG	RBM5	-	NULL		0.423	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50151469	1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50151469	G	C	50151469	3	2	58	1	0	0	0	0	1	0	0	0	13173	1281	45	1	1774	1	RBM5	3	50151469	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	14050	50151469	147870961	271	8021										
SLC38A3	10991	genome.wustl.edu	37	chr3	50252126	50252126	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggatgtcagtgttcaacctCagcaatgccatcatgggcag	12	10	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50252126C>T	ENST00000420502.1	+	0	378									solute carrier family 38, member 3									p.L75L(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TGTTCAACCTCAGCAATGCCA	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											64	61	62					3																	50252126		2203	4300	6503			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252126C>T				RNA	SNP	-	NULL	ENST00000420502.1	37	NULL		3																																																																																			SLC38A3	-	-		0.562	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	SLC38A3	HGNC	processed_transcript	OTTHUMT00000345635.2	C	NM_006841		50252126	1	no_errors	ENST00000414604	ensembl	human	known	70_37	rna	SNP	1.000	T	T	50252126	C	T	50252126	1	4	58	0	1	0	0	0	0	0	0	0	14635	813	29	1		1	SLC38A3	3	50252126	RNA	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	100657	50252126	147770304	272	8022										
IFRD2	7866	genome.wustl.edu	37	chr3	50327471	50327471	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagggcccagctgcacgcaGagcaggcctagcacagcagc	13	16	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50327471G>A	ENST00000429673.2	-	5	626	c.627C>T	c.(625-627)ctC>ctT	p.L209L	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000336089.4_Silent_p.L311L|IFRD2_ENST00000436390.1_Silent_p.L145L|IFRD2_ENST00000417626.2_Silent_p.L145L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	209						nucleus (GO:0005634)		p.L311L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTGCACGCAGAGCAGGCCTA	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											33	38	36					3																	50327471		2153	4266	6419	SO:0001819	synonymous_variant	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.627C>T	3.37:g.50327471G>A			Q9BVB4|Q9UJ88	Silent	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.L311	ENST00000429673.2	37	c.933	CCDS46831.1	3																																																																																			IFRD2	-	pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold		0.622	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		G	NM_006764		50327471	-1	no_errors	ENST00000336089	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50327471	G	A	50327471	2	1	58	1	0	0	0	0	0	0	0	1	7574	929	33	1		1	IFRD2	3	50327471	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	75345	50327471	147694959	273	8023										
HYAL1	3373	genome.wustl.edu	37	chr3	50337989	50337989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catttgaactccacagccatCtgtgcctgatcttcaagtga	7	12	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50337989C>G	ENST00000266031.4	-	3	1848	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.Q411H|HYAL1_ENST00000395144.2_Missense_Mutation_p.Q411H|HYAL1_ENST00000395143.2_Missense_Mutation_p.Q381H|HYAL3_ENST00000415204.1_5'Flank|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.Q229H|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.Q152H			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	411	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)	p.Q411H(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCACAGCCATCTGTGCCTGAT	0.592																																																	1	Substitution - Missense(1)	cervix(1)											100	99	100					3																	50337989		2203	4300	6503	SO:0001583	missense	3373			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1233G>C	3.37:g.50337989C>G	ENSP00000266031:p.Gln411His		Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.Q411H	ENST00000266031.4	37	c.1233	CCDS2816.1	3	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853202	0.51270	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.30714	2.26;2.26;2.26;1.93;1.52;1.52	5.2	1.28	0.21552	Epidermal growth factor-like (1);	1.416630	0.04297	N	0.346694	T	0.29093	0.0723	L	0.41236	1.265	0.09310	N	0.999995	P;P	0.42993	0.797;0.752	P;B	0.48189	0.57;0.17	T	0.11591	-1.0581	10	0.15952	T	0.53	-0.1303	1.3939	0.02257	0.1383:0.3584:0.2691:0.2342	.	381;411	Q12794-2;Q12794	.;HYAL1_HUMAN	H	411;411;411;381;229;152	ENSP00000378576:Q411H;ENSP00000266031:Q411H;ENSP00000346068:Q411H;ENSP00000378575:Q381H;ENSP00000393358:Q229H;ENSP00000390149:Q152H	ENSP00000266031:Q411H	Q	-	3	2	HYAL1	50312993	0.000000	0.05858	0.106000	0.21319	0.269000	0.26545	-0.200000	0.09478	-0.049000	0.13379	0.313000	0.20887	CAG	HYAL1	-	pirsf_Hyaluronidase		0.592	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL1	HGNC	protein_coding	OTTHUMT00000346703.1	C			50337989	-1	no_errors	ENST00000266031	ensembl	human	known	70_37	missense	SNP	0.005	G	G	50337989	C	G	50337989	3	3	58	1	0	0	0	0	1	0	0	0	7483	912	32	1	78	1	HYAL1	3	50337989	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	10518	50337989	147684441	274	8024										
DNAH1	25981	genome.wustl.edu	37	chr3	52417975	52417975	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagtggccggcagaagccctGaagtctgtggccaccgtgtt	15	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52417975G>A	ENST00000420323.2	+	52	8511	c.8250G>A	c.(8248-8250)ctG>ctA	p.L2750L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2750	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2750L(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGAAGCCCTGAAGTCTGTGG	0.572																																																	2	Substitution - coding silent(2)	cervix(2)											37	39	39					3																	52417975		1912	4123	6035	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8250G>A	3.37:g.52417975G>A			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L2750	ENST00000420323.2	37	c.8250	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52417975	1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.943	A	A	52417975	G	A	52417975	2	1	58	1	0	0	0	0	0	0	0	1	4607	1277	45	1		1	DNAH1	3	52417975	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2079986	52417975	145604455	275	8025										
DNAH1	25981	genome.wustl.edu	37	chr3	52432098	52432098	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaaggtgcctgagcctatCaacttgcaatgggtgatggc	12	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52432098C>T	ENST00000420323.2	+	75	12270	c.12009C>T	c.(12007-12009)atC>atT	p.I4003I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4068					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I4067I(1)|p.I4003I(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCCTATCAACTTGCAAT	0.517																																																	2	Substitution - coding silent(2)	cervix(2)											78	85	82					3																	52432098		2170	4279	6449	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12009C>T	3.37:g.52432098C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.I4003	ENST00000420323.2	37	c.12009	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy_dom		0.517	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52432098	1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.190	T	T	52432098	C	T	52432098	2	4	58	1	0	0	0	0	0	0	0	1	4607	816	29	1		1	DNAH1	3	52432098	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	14123	52432098	145590332	276	8026										
NEK4	6787	genome.wustl.edu	37	chr3	52785972	52785972	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctttggcttttgttctttGattaggggctgcagaggctt	12	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52785972G>C	ENST00000233027.5	-	7	1546	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	NEK4_ENST00000383721.4_Missense_Mutation_p.I448M|NEK4_ENST00000535191.1_Missense_Mutation_p.I359M	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	448					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I448M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTGTTCTTTGATTAGGGGCT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											126	128	127					3																	52785972		2203	4300	6503	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1344C>G	3.37:g.52785972G>C	ENSP00000233027:p.Ile448Met		A5YM70|B2R633|B7Z200|Q6P576	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I448M	ENST00000233027.5	37	c.1344	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	7.461	0.644587	0.14451	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72615	-0.6;-0.67;-0.59;-0.67	4.97	3.12	0.35913	.	1.310530	0.04827	N	0.438013	T	0.46737	0.1408	N	0.08118	0	0.18873	N	0.999987	P;B;B	0.48162	0.906;0.37;0.254	B;B;B	0.38056	0.264;0.252;0.128	T	0.45264	-0.9273	10	0.31617	T	0.26	.	3.6807	0.08309	0.2079:0.0:0.5948:0.1973	.	359;448;448	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	M	448;359;448;359	ENSP00000233027:I448M;ENSP00000437703:I359M;ENSP00000373227:I448M;ENSP00000419666:I359M	ENSP00000233027:I448M	I	-	3	3	NEK4	52761012	0.118000	0.22208	0.829000	0.32907	0.342000	0.28953	0.346000	0.19997	1.206000	0.43276	0.655000	0.94253	ATC	NEK4	-	NULL		0.458	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	G	NM_003157		52785972	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	0.533	C	C	52785972	G	C	52785972	3	2	58	1	0	0	0	0	1	0	0	0	10350	1280	45	1	1221	1	NEK4	3	52785972	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	353874	52785972	145236458	277	8027										
DCP1A	55802	genome.wustl.edu	37	chr3	53326674	53326674	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacacccagggtttctgattGaggggctcctcctaactgct	11	12	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:53326674G>C	ENST00000607628.1	-	7	917	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	DCP1A_ENST00000294241.6_Missense_Mutation_p.Q270E|DCP1A_ENST00000480258.1_5'UTR|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000606822.1_Missense_Mutation_p.Q232E	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	270					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)	p.Q270E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTTTCTGATTGAGGGGCTCCT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											53	57	56					3																	53326674		1938	4137	6075	SO:0001583	missense	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.808C>G	3.37:g.53326674G>C	ENSP00000475920:p.Gln270Glu		B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000607628.1	37	NULL		3																																																																																			DCP1A	-	-		0.527	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding		G	NM_018403		53326674	-1	no_errors	ENST00000294241	ensembl	human	known	70_37	rna	SNP	0.226	C	C	53326674	G	C	53326674	3	2	58	1	0	0	0	0	1	0	0	0	4303	1299	45	1	956	1	DCP1A	3	53326674	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	540702	53326674	144695756	278	8028										
ARHGEF3	50650	genome.wustl.edu	37	chr3	56763299	56763299	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgaagtgcacatgcttctgtCagacgttactttcaccgtgc	9	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:56763299C>G	ENST00000296315.3	-	10	1748	c.1580G>C	c.(1579-1581)tGa>tCa	p.*527S	ARHGEF3_ENST00000338458.4_Nonstop_Mutation_p.*559S|ARHGEF3_ENST00000496106.1_Nonstop_Mutation_p.*533S|ARHGEF3_ENST00000497267.1_Nonstop_Mutation_p.*498S|ARHGEF3_ENST00000413728.2_Nonstop_Mutation_p.*533S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	0					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.*527S(2)|p.*559S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATGCTTCTGTCAGACGTTACT	0.493																																																	3	Nonstop extension(3)	cervix(3)											173	125	141					3																	56763299		2203	4300	6503	SO:0001578	stop_lost	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1580G>C	3.37:g.56763299C>G			A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Nonstop_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.*559S	ENST00000296315.3	37	c.1676	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112169	0.20795	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	.	.	.	5.94	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5609	0.68136	0.0:0.9304:0.0:0.0696	.	.	.	.	S	527;559;533;533;498	.	.	X	-	2	2	ARHGEF3	56738339	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	3.790000	0.55461	2.826000	0.97356	0.561000	0.74099	TGA	ARHGEF3	-	NULL		0.493	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	C	NM_019555		56763299	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	56763299	C	G	56763299	4	3	58	1	0	0	0	0	0	0	0	0	904	837	29	1	4	1	ARHGEF3	3	56763299	Nonstop_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3436625	56763299	141259131	279	8029										
PXK	54899	genome.wustl.edu	37	chr3	58394714	58394714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtatagagaagagactaattGaggaacagaaacaggtaaat	11	3	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:58394714G>C	ENST00000356151.2	+	14	1403	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	PXK_ENST00000479241.1_Missense_Mutation_p.E415Q|PXK_ENST00000463280.1_Missense_Mutation_p.E399Q|PXK_ENST00000536660.1_Missense_Mutation_p.E295Q|PXK_ENST00000383716.3_Missense_Mutation_p.E399Q|PXK_ENST00000383715.4_Missense_Mutation_p.E415Q|PXK_ENST00000484288.1_Missense_Mutation_p.E432Q|PXK_ENST00000302779.5_Missense_Mutation_p.E415Q	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.E432Q(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GAGACTAATTGAGGAACAGAA	0.383																																																	2	Substitution - Missense(2)	cervix(2)											110	113	112					3																	58394714		2203	4300	6503	SO:0001583	missense	54899			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1294G>C	3.37:g.58394714G>C	ENSP00000348472:p.Glu432Gln			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom	p.E432Q	ENST00000356151.2	37	c.1294	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.202147|4.202147	0.79127|0.79127	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750|ENST00000479134;ENST00000495557	T;T;T;T;T;T;T;T|.	0.35973|.	2.96;2.96;2.96;1.32;1.3;1.31;1.28;2.96|.	6.05|6.05	6.05|6.05	0.98169|0.98169	Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75398|0.75398	0.3844|0.3844	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D|.	0.78314|.	0.977;0.991;0.977;0.985;0.961;0.961|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.44086|.	T|.	0.13|.	-20.6579|-20.6579	18.7795|18.7795	0.91926|0.91926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	399;399;399;432;415;432|.	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2|.	.;.;.;PXK_HUMAN;.;.|.	Q|F	432;415;399;399;415;432;415;295;295|186;3	ENSP00000348472:E432Q;ENSP00000305045:E415Q;ENSP00000373222:E399Q;ENSP00000417903:E399Q;ENSP00000373221:E415Q;ENSP00000417915:E432Q;ENSP00000419049:E415Q;ENSP00000438356:E295Q|.	ENSP00000305045:E415Q|.	E|L	+|+	1|3	0|2	PXK|PXK	58369754|58369754	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.665000|0.665000	0.39181|0.39181	7.001000|7.001000	0.76297|0.76297	2.871000|2.871000	0.98454|0.98454	0.637000|0.637000	0.83480|0.83480	GAG|TTG	PXK	-	pfscan_Prot_kinase_cat_dom		0.383	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	G	NM_017771		58394714	1	no_errors	ENST00000356151	ensembl	human	known	70_37	missense	SNP	0.999	C	C	58394714	G	C	58394714	3	2	58	1	0	0	0	0	1	0	0	0	12879	1291	45	1	1348	1	PXK	3	58394714	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1631415	58394714	139627716	280	8030										
ADAMTS9	56999	genome.wustl.edu	37	chr3	64536684	64536684	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgcacctcgtttttgttgtCatccacacacaccaccttgc	5	15	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:64536684C>G	ENST00000498707.1	-	31	5095	c.4753G>C	c.(4753-4755)Gac>Cac	p.D1585H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1557H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1585	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1585H(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTTTGTTGTCATCCACACAC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											206	176	186					3																	64536684		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4753G>C	3.37:g.64536684C>G	ENSP00000418735:p.Asp1585His		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D1585H	ENST00000498707.1	37	c.4753	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.736|8.736	0.917732|0.917732	0.17982|0.17982	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.53206|.	0.63;0.63|.	5.83|5.83	4.96|4.96	0.65561|0.65561	.|.	0.471046|.	0.24211|.	N|.	0.040540|.	T|T	0.33614|0.33614	0.0869|0.0869	N|N	0.21448|0.21448	0.665|0.665	0.30002|0.30002	N|N	0.815962|0.815962	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.0;0.002|.	T|T	0.27640|0.27640	-1.0068|-1.0068	10|5	0.45353|.	T|.	0.12|.	.|.	11.2752|11.2752	0.49163|0.49163	0.0:0.8043:0.1272:0.0685|0.0:0.8043:0.1272:0.0685	.|.	1557;1585;1585|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	H|I	1557;1585|640	ENSP00000295903:D1557H;ENSP00000418735:D1585H|.	ENSP00000295903:D1557H|.	D|M	-|-	1|3	0|0	ADAMTS9|ADAMTS9	64511724|64511724	0.138000|0.138000	0.22547|0.22547	0.005000|0.005000	0.12908|0.12908	0.328000|0.328000	0.28507|0.28507	2.401000|2.401000	0.44513|0.44513	1.474000|1.474000	0.48178|0.48178	0.585000|0.585000	0.79938|0.79938	GAC|ATG	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.517	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	C			64536684	-1	no_errors	ENST00000498707	ensembl	human	known	70_37	missense	SNP	0.089	G	G	64536684	C	G	64536684	3	3	58	1	0	0	0	0	1	0	0	0	273	826	29	1	1090	1	ADAMTS9	3	64536684	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6141970	64536684	133485746	281	8031										
TMF1	7110	genome.wustl.edu	37	chr3	69073265	69073265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcttcaagttcatcattttGatttgttaatttaactagtt	4	6	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:69073265G>C	ENST00000398559.2	-	16	3295	c.3079C>G	c.(3079-3081)Caa>Gaa	p.Q1027E	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030E|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323																																																	1	Substitution - Missense(1)	cervix(1)											167	154	158					3																	69073265		1831	4077	5908	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3079C>G	3.37:g.69073265G>C	ENSP00000381567:p.Gln1027Glu		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.Q1030E	ENST00000398559.2	37	c.3088	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256328	0.22965	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.80738	-1.41;-1.41	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.66025	0.2748	N	0.16201	0.385	0.43426	D	0.995584	B;B	0.24721	0.11;0.051	B;B	0.17433	0.016;0.018	T	0.63915	-0.6529	10	0.06494	T	0.89	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	E	1027;1030;943	ENSP00000381567:Q1027E;ENSP00000438706:Q1030E	ENSP00000348582:Q943E	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA	TMF1	-	pfam_TMF_TATA-bd		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	G	NM_007114		69073265	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69073265	G	C	69073265	3	2	58	1	0	0	0	0	1	0	0	0	16258	1299	45	1	210	1	TMF1	3	69073265	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4536581	69073265	128949165	282	8032										
ROBO2	6092	genome.wustl.edu	37	chr3	77623803	77623803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaaaaagggggtgacttatGaaattaaagtacggccatat	11	4	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:77623803G>C	ENST00000461745.1	+	14	3025	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E725Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.E709Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	709	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.E725Q(1)|p.E709Q(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)		GGTGACTTATGAAATTAAAGT	0.413																																																	2	Substitution - Missense(2)	cervix(2)											61	56	58					3																	77623803		1841	4104	5945	SO:0001583	missense	6092			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.2125G>C	3.37:g.77623803G>C	ENSP00000417164:p.Glu709Gln		O43608|Q19AB4|Q19AB5	Missense_Mutation	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.E709Q	ENST00000461745.1	37	c.2125	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221691	0.58560	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58358	0.34;0.34;0.34	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000240	T	0.70474	0.3228	L	0.58669	1.825	0.50039	D	0.999846	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.66118	-0.6003	9	0.35671	T	0.21	.	19.7585	0.96304	0.0:0.0:1.0:0.0	.	725;709;709	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	725;725;729;709;709;430	ENSP00000417335:E725Q;ENSP00000417164:E709Q;ENSP00000327536:E709Q	ENSP00000327536:E709Q	E	+	1	0	ROBO2	77706493	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	9.866000	0.99616	2.665000	0.90641	0.585000	0.79938	GAA	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	G	XM_031246		77623803	1	no_errors	ENST00000461745	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77623803	G	C	77623803	3	2	58	1	0	0	0	0	1	0	0	0	13544	1291	45	1	2181	1	ROBO2	3	77623803	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8550538	77623803	120398627	283	8033										
CRYBG3	131544	genome.wustl.edu	37	chr3	97596225	97596225	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctaaattaggtgagacatttGatagtgatagttcagaaatg	10	3	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:97596225G>C	ENST00000182096.4	+	1	407	c.343G>C	c.(343-345)Gat>Cat	p.D115H		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2063							carbohydrate binding (GO:0030246)	p.D115H(1)|p.D115Y(1)|p.D115N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAGACATTTGATAGTGATAG	0.413																																																	3	Substitution - Missense(3)	cervix(1)|large_intestine(1)|lung(1)											82	80	80					3																	97596225		1905	4111	6016	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.343G>C	3.37:g.97596225G>C	ENSP00000182096:p.Asp115His		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D115H	ENST00000182096.4	37	c.343		3	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555468	0.65425	.	.	ENSG00000080200	ENST00000182096	T	0.76839	-1.05	5.68	5.68	0.88126	.	0.332812	0.26553	N	0.023732	T	0.73560	0.3602	L	0.27053	0.805	0.80722	D	1	P	0.47409	0.895	P	0.45946	0.498	T	0.77362	-0.2616	10	0.72032	D	0.01	.	17.9746	0.89123	0.0:0.0:1.0:0.0	.	115	Q68DQ2	CRBG3_HUMAN	H	115	ENSP00000182096:D115H	ENSP00000182096:D115H	D	+	1	0	CRYBG3	99078915	0.999000	0.42202	0.376000	0.26042	0.993000	0.82548	5.928000	0.70088	2.695000	0.91970	0.650000	0.86243	GAT	CRYBG3	-	NULL		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97596225	1	no_errors	ENST00000182096	ensembl	human	known	70_37	missense	SNP	0.906	C	C	97596225	G	C	97596225	3	2	58	1	0	0	0	0	1	0	0	0	3918	1290	45	1	345	1	CRYBG3	3	97596225	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	19972422	97596225	100426205	284	8034										
FILIP1L	11259	genome.wustl.edu	37	chr3	99569565	99569565	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgttgaagctggcgattttGactgtcctcattggtgagct	12	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:99569565G>C	ENST00000354552.3	-	5	1425	c.955C>G	c.(955-957)Caa>Gaa	p.Q319E	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.Q319E|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.Q79E|FILIP1L_ENST00000383694.2_Missense_Mutation_p.Q79E	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	319						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q319E(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGGCGATTTTGACTGTCCTCA	0.478																																																	2	Substitution - Missense(2)	cervix(2)											200	192	194					3																	99569565		1893	4108	6001	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.955C>G	3.37:g.99569565G>C	ENSP00000346560:p.Gln319Glu		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.Q319E	ENST00000354552.3	37	c.955	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933032	0.73442	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.22539	2.27;1.95;2.27;1.95;1.95	5.81	5.81	0.92471	.	0.000000	0.50627	D	0.000116	T	0.40522	0.1120	L	0.55103	1.725	0.47905	D	0.999541	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	T	0.06197	-1.0840	10	0.07813	T	0.8	-14.7865	20.0782	0.97758	0.0:0.0:1.0:0.0	.	319;319	Q4L180-2;Q4L180	.;FIL1L_HUMAN	E	319;79;319;79;79;79	ENSP00000346560:Q319E;ENSP00000419642:Q79E;ENSP00000327880:Q319E;ENSP00000373192:Q79E;ENSP00000419874:Q79E	ENSP00000327880:Q319E	Q	-	1	0	FILIP1L	101052255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.746000	0.94184	0.655000	0.94253	CAA	FILIP1L	-	superfamily_Prefoldin		0.478	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	G	NM_014890		99569565	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99569565	G	C	99569565	3	2	58	1	0	0	0	0	1	0	0	0	5913	1299	45	1	2481	1	FILIP1L	3	99569565	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1973340	99569565	98452865	285	8035										
CEP97	79598	genome.wustl.edu	37	chr3	101447778	101447778	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctatctaaattggtatccctGaaagtaagtatgttttcttt	6	6	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:101447778G>A	ENST00000341893.3	+	4	1196	c.444G>A	c.(442-444)ctG>ctA	p.L148L	CEP97_ENST00000327230.4_Silent_p.L148L|CEP97_ENST00000494050.1_Silent_p.L148L			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	148					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.L148L(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTATCCCTGAAAGTAAGTA	0.358																																																	2	Substitution - coding silent(2)	cervix(2)											138	135	136					3																	101447778		2203	4300	6503	SO:0001819	synonymous_variant	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.444G>A	3.37:g.101447778G>A			B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L148	ENST00000341893.3	37	c.444	CCDS2944.1	3																																																																																			CEP97	-	NULL		0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	G	NM_024548		101447778	1	no_errors	ENST00000327230	ensembl	human	known	70_37	silent	SNP	0.975	A	A	101447778	G	A	101447778	2	1	58	1	0	0	0	0	0	0	0	1	3268	1277	45	1		1	CEP97	3	101447778	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1878213	101447778	96574652	286	8036										
MYH15	22989	genome.wustl.edu	37	chr3	108189047	108189047	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaattaatgcaaagttgctCaaggctattatacttcaagg	7	6	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:108189047C>G	ENST00000273353.3	-	15	1512	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	486	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E486Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAAAGTTGCTCAAGGCTATTA	0.308																																																	1	Substitution - Missense(1)	cervix(1)											69	63	65					3																	108189047		1798	4085	5883	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1456G>C	3.37:g.108189047C>G	ENSP00000273353:p.Glu486Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E486Q	ENST00000273353.3	37	c.1456	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797628	0.70567	.	.	ENSG00000144821	ENST00000273353	D	0.92149	-2.98	6.05	5.18	0.71444	Myosin head, motor domain (3);	.	.	.	.	D	0.97958	0.9328	H	0.99435	4.565	0.51012	D	0.999905	D	0.76494	0.999	D	0.74023	0.982	D	0.99391	1.0925	9	0.87932	D	0	.	15.3314	0.74215	0.0:0.9334:0.0:0.0666	.	486	Q9Y2K3	MYH15_HUMAN	Q	486	ENSP00000273353:E486Q	ENSP00000273353:E486Q	E	-	1	0	MYH15	109671737	1.000000	0.71417	0.018000	0.16275	0.782000	0.44232	5.978000	0.70501	1.577000	0.49804	0.650000	0.86243	GAG	MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.308	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108189047	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108189047	C	G	108189047	3	3	58	1	0	0	0	0	1	0	0	0	10057	835	29	1	4496	1	MYH15	3	108189047	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6741269	108189047	89833383	287	8037										
PVRL3	25945	genome.wustl.edu	37	chr3	110852841	110852841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taaaaaaagaaaacaaaaatCcagtgaacaatctaatacgt	4	6	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:110852841C>G	ENST00000485303.1	+	6	1704	c.1429C>G	c.(1429-1431)Cca>Gca	p.P477A	PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	477					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.P477A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAACAAAAATCCAGTGAACAA	0.328																																																	1	Substitution - Missense(1)	cervix(1)											35	38	37					3																	110852841		2200	4295	6495	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1429C>G	3.37:g.110852841C>G	ENSP00000418070:p.Pro477Ala		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.P477A	ENST00000485303.1	37	c.1429	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039670	0.19669	.	.	ENSG00000177707	ENST00000485303	T	0.30714	1.52	5.8	5.8	0.92144	.	0.126462	0.56097	D	0.000032	T	0.26268	0.0641	L	0.50333	1.59	0.80722	D	1	P	0.39782	0.688	B	0.31442	0.13	T	0.06320	-1.0833	10	0.62326	D	0.03	.	12.4815	0.55844	0.167:0.833:0.0:0.0	.	477	Q9NQS3	PVRL3_HUMAN	A	477	ENSP00000418070:P477A	ENSP00000418070:P477A	P	+	1	0	PVRL3	112335531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.905000	0.48727	2.734000	0.93682	0.460000	0.39030	CCA	PVRL3	-	NULL		0.328	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	C	NM_015480		110852841	1	no_errors	ENST00000485303	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110852841	C	G	110852841	3	3	58	1	0	0	0	0	1	0	0	0	12871	855	30	1	1451	1	PVRL3	3	110852841	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2663794	110852841	87169589	288	8038										
CD200R1	131450	genome.wustl.edu	37	chr3	112642643	112642643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctggcatagggctgcatttCatcctaagaaagaactcaaa	9	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:112642643C>T	ENST00000471858.1	-	7	1091	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	CD200R1_ENST00000308611.3_Missense_Mutation_p.E310K|CD200R1_ENST00000295863.4_Silent_p.*213*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	287					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E310K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGCTGCATTTCATCCTAAGAA	0.358																																																	1	Substitution - Missense(1)	cervix(1)											110	104	106					3																	112642643		2203	4300	6503	SO:0001583	missense	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.859G>A	3.37:g.112642643C>T	ENSP00000418928:p.Glu287Lys		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.E310K	ENST00000471858.1	37	c.928	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656264	0.47467	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.19250	2.16;2.16	5.42	4.5	0.54988	.	0.000000	0.40385	U	0.001106	T	0.17238	0.0414	L	0.34521	1.04	0.80722	D	1	P;P	0.46912	0.612;0.886	B;B	0.42245	0.133;0.381	T	0.01748	-1.1282	10	0.87932	D	0	.	9.2496	0.37547	0.0:0.8925:0.0:0.1075	.	287;310	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	K	287;310	ENSP00000418928:E287K;ENSP00000311035:E310K	ENSP00000311035:E310K	E	-	1	0	CD200R1	114125333	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	3.724000	0.54962	1.187000	0.43000	-0.355000	0.07637	GAA	CD200R1	-	NULL		0.358	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	C	NM_138806		112642643	-1	no_errors	ENST00000308611	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112642643	C	T	112642643	3	4	58	1	0	0	0	0	1	0	0	0	2986	835	29	1	122	1	CD200R1	3	112642643	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1789802	112642643	85379787	289	8039										
C3orf30	152405	genome.wustl.edu	37	chr3	118865512	118865512	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaggctgagagaagaacttCtgggcagattgatggtagac	14	7	1	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:118865512C>A	ENST00000295622.1	+	1	516	c.476C>A	c.(475-477)tCt>tAt	p.S159Y	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	159								p.S159Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAACTTCTGGGCAGATT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											58	58	58					3																	118865512		2203	4300	6503	SO:0001583	missense	152405			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.476C>A	3.37:g.118865512C>A	ENSP00000295622:p.Ser159Tyr		A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.S159Y	ENST00000295622.1	37	c.476	CCDS2984.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.23|11.23	1.576784|1.576784	0.28092|0.28092	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	.|T	.|0.23950	.|1.88	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	.|1.439890	.|0.04522	.|N	.|0.384845	T|T	0.39145|0.39145	0.1067|0.1067	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.62560	.|0.904;0.904	T|T	0.33214|0.33214	-0.9877|-0.9877	5|10	.|0.52906	.|T	.|0.07	.|.	9.6025|9.6025	0.39612|0.39612	0.2085:0.7915:0.0:0.0|0.2085:0.7915:0.0:0.0	.|.	.|159;159	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	L|Y	122|159	.|ENSP00000295622:S159Y	.|ENSP00000295622:S159Y	F|S	+|+	3|2	2|0	C3orf30|C3orf30	120348202|120348202	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.013000|0.013000	0.08279|0.08279	-0.080000|-0.080000	0.11339|0.11339	2.617000|2.617000	0.88574|0.88574	0.563000|0.563000	0.77884|0.77884	TTC|TCT	C3orf30	-	NULL		0.527	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	C	NM_152539		118865512	1	no_errors	ENST00000295622	ensembl	human	known	70_37	missense	SNP	0.022	A	A	118865512	C	A	118865512	3	1	58	1	0	0	0	0	1	0	0	0	2225	913	32	3	478	3	C3orf30	3	118865512	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6222869	118865512	79156918	290	8040										
GOLGB1	2804	genome.wustl.edu	37	chr3	121410890	121410890	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cataagctgattggttttatCaacagcctttttgttctcct	6	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:121410890C>G	ENST00000340645.5	-	14	7431	c.7306G>C	c.(7306-7308)Gat>Cat	p.D2436H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2441H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2436					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.D2436H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGGTTTTATCAACAGCCTTT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											158	155	156					3																	121410890		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7306G>C	3.37:g.121410890C>G	ENSP00000341848:p.Asp2436His		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.D2436H	ENST00000340645.5	37	c.7306	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.719792	0.00700	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14640	2.49;2.49	5.79	1.72	0.24424	.	0.381500	0.24854	N	0.035077	T	0.16300	0.0392	L	0.54323	1.7	0.18873	N	0.999989	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.14023	0.01;0.003;0.01	T	0.18209	-1.0344	10	0.48119	T	0.1	.	17.0696	0.86569	0.0:0.4353:0.5647:0.0	.	2441;2441;2436	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	2436;2441	ENSP00000341848:D2436H;ENSP00000377275:D2441H	ENSP00000341848:D2436H	D	-	1	0	GOLGB1	122893580	0.061000	0.20836	0.468000	0.27192	0.113000	0.19764	1.677000	0.37576	0.008000	0.14787	-0.344000	0.07964	GAT	GOLGB1	-	NULL		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121410890	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.227	G	G	121410890	C	G	121410890	3	3	58	1	0	0	0	0	1	0	0	0	6584	826	29	1	2509	1	GOLGB1	3	121410890	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2545378	121410890	76611540	291	8041										
PARP14	54625	genome.wustl.edu	37	chr3	122432391	122432391	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcagatgtgattgtaaattCaacatcaaactcattcaatc	6	8	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:122432391C>G	ENST00000474629.2	+	10	4006	c.3740C>G	c.(3739-3741)tCa>tGa	p.S1247*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1247	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S1084*(1)|p.S1247*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATTGTAAATTCAACATCAAAC	0.398																																																	2	Substitution - Nonsense(2)	cervix(2)											92	87	89					3																	122432391		1884	4113	5997	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3740C>G	3.37:g.122432391C>G	ENSP00000418194:p.Ser1247*		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1247*	ENST00000474629.2	37	c.3740	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.006407	0.97998	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.25	5.25	0.73442	.	0.227950	0.30293	N	0.009947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	16.3956	0.83604	0.0:1.0:0.0:0.0	.	.	.	.	X	1247;1166;243	.	ENSP00000381224:S243X	S	+	2	0	PARP14	123915081	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.532000	0.60608	2.749000	0.94314	0.655000	0.94253	TCA	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122432391	1	no_errors	ENST00000474629	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	122432391	C	G	122432391	4	3	58	1	0	0	0	0	0	1	0	0	11482	838	29	1	3778	1	PARP14	3	122432391	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1021501	122432391	75590039	292	8042										
MUC13	56667	genome.wustl.edu	37	chr3	124635176	124635176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atacttacaatcatagtttaGaaagttgcttgagctacttc	6	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:124635176G>C	ENST00000311075.3	-	6	987	c.949C>G	c.(949-951)Cta>Gta	p.L317V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	318	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.L317V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCATAGTTTAGAAAGTTGCTT	0.308																																																	1	Substitution - Missense(1)	cervix(1)											93	89	90					3																	124635176		2202	4299	6501	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.949C>G	3.37:g.124635176G>C	ENSP00000312235:p.Leu317Val		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.L317V	ENST00000311075.3	37	c.949		3	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937148	0.02340	.	.	ENSG00000173702	ENST00000311075	T	0.38240	1.15	4.56	-9.12	0.00707	SEA (2);	5.959490	0.00166	N	0.000001	T	0.23210	0.0561	L	0.34521	1.04	0.09310	N	1	B	0.26195	0.144	B	0.30251	0.113	T	0.14117	-1.0484	10	0.29301	T	0.29	8.9711	2.5471	0.04740	0.264:0.3241:0.2824:0.1295	.	317	Q9H3R2	MUC13_HUMAN	V	317	ENSP00000312235:L317V	ENSP00000312235:L317V	L	-	1	2	MUC13	126117866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.671000	0.00032	-5.256000	0.00018	-1.098000	0.02139	CTA	MUC13	-	pfam_SEA,superfamily_Growth_fac_rcpt		0.308	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1	G	NM_033049		124635176	-1	no_errors	ENST00000311075	ensembl	human	known	70_37	missense	SNP	0.000	C	C	124635176	G	C	124635176	3	2	58	1	0	0	0	0	1	0	0	0	9994	933	33	1	610	1	MUC13	3	124635176	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2202785	124635176	73387254	293	8043										
HEG1	57493	genome.wustl.edu	37	chr3	124732322	124732322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcagaggtagactttagtaGatgcacagaggccctggttg	13	7	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:124732322G>C	ENST00000311127.4	-	6	2168	c.2101C>G	c.(2101-2103)Cta>Gta	p.L701V	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	701	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L701V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACTTTAGTAGATGCACAGAG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											127	127	127					3																	124732322		2045	4190	6235	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2101C>G	3.37:g.124732322G>C	ENSP00000311502:p.Leu701Val		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.L701V	ENST00000311127.4	37	c.2101	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114431	0.06881	.	.	ENSG00000173706	ENST00000311127	D	0.87966	-2.32	5.46	5.46	0.80206	.	1.811290	0.04169	U	0.324386	D	0.82939	0.5146	N	0.22421	0.69	0.09310	N	1	P;P	0.45827	0.867;0.791	B;B	0.41510	0.359;0.196	T	0.71925	-0.4445	10	0.25751	T	0.34	.	14.657	0.68841	0.0:0.0:1.0:0.0	.	701;701	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	701	ENSP00000311502:L701V	ENSP00000311502:L701V	L	-	1	2	HEG1	126215012	0.026000	0.19158	0.007000	0.13788	0.121000	0.20230	2.417000	0.44653	2.834000	0.97654	0.655000	0.94253	CTA	HEG1	-	NULL		0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	G	XM_087386		124732322	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	missense	SNP	0.011	C	C	124732322	G	C	124732322	3	2	58	1	0	0	0	0	1	0	0	0	7064	933	33	1	2092	1	HEG1	3	124732322	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	97146	124732322	73290108	294	8044										
OSBPL11	114885	genome.wustl.edu	37	chr3	125282577	125282577	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agattctgcaacaggctgctCttctgggactgccaccggct	11	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:125282577C>G	ENST00000296220.5	-	7	1268	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	327					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.E327Q(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACAGGCTGCTCTTCTGGGACT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											112	112	112					3																	125282577		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.979G>C	3.37:g.125282577C>G	ENSP00000296220:p.Glu327Gln		A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E327Q	ENST00000296220.5	37	c.979	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	C	9.516	1.107011	0.20714	.	.	ENSG00000144909	ENST00000296220	T	0.18016	2.24	4.71	4.71	0.59529	.	1.061880	0.07231	N	0.862463	T	0.18173	0.0436	L	0.41236	1.265	0.32783	N	0.502277	B	0.23735	0.09	B	0.18561	0.022	T	0.12708	-1.0537	10	0.18710	T	0.47	-3.9614	16.0266	0.80550	0.0:1.0:0.0:0.0	.	327	Q9BXB4	OSB11_HUMAN	Q	327	ENSP00000296220:E327Q	ENSP00000296220:E327Q	E	-	1	0	OSBPL11	126765267	0.990000	0.36364	0.828000	0.32881	0.813000	0.45954	2.668000	0.46816	2.427000	0.82271	0.467000	0.42956	GAG	OSBPL11	-	NULL		0.403	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	C	NM_022776		125282577	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	missense	SNP	0.786	G	G	125282577	C	G	125282577	3	3	58	1	0	0	0	0	1	0	0	0	11300	922	32	1	1292	1	OSBPL11	3	125282577	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	550255	125282577	72739853	295	8045										
CCDC37	348807	genome.wustl.edu	37	chr3	126137952	126137952	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accaaagccaagatagagaaGatccttgagatccgggacct	10	10	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:126137952G>A	ENST00000352312.1	+	8	783	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CCDC37_ENST00000393425.1_Silent_p.K229K|CCDC37_ENST00000505024.1_Silent_p.K229K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	228								p.K228K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGATAGAGAAGATCCTTGAGA	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											45	43	44					3																	126137952		2203	4296	6499	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.684G>A	3.37:g.126137952G>A			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.K229	ENST00000352312.1	37	c.687	CCDS3037.1	3																																																																																			CCDC37	-	NULL		0.592	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126137952	1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	0.996	A	A	126137952	G	A	126137952	2	1	58	1	0	0	0	0	0	0	0	1	2814	933	33	1		1	CCDC37	3	126137952	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	855375	126137952	71884478	296	8046										
TRH	7200	genome.wustl.edu	37	chr3	129694836	129694836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcttcctccgggaaaacatCcagcggctgcaaggggacca	11	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:129694836C>G	ENST00000302649.3	+	2	704	c.177C>G	c.(175-177)atC>atG	p.I59M	TRH_ENST00000507066.1_Missense_Mutation_p.I59M	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	59					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.I59M(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GGGAAAACATCCAGCGGCTGC	0.677																																					Esophageal Squamous(60;321 1330 17401 41911)												1	Substitution - Missense(1)	cervix(1)											20	25	23					3																	129694836		2203	4300	6503	SO:0001583	missense	7200				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.177C>G	3.37:g.129694836C>G	ENSP00000303452:p.Ile59Met		B2R8R1|Q2TB83	Missense_Mutation	SNP	pfam_TRH,pirsf_TRH	p.I59M	ENST00000302649.3	37	c.177	CCDS3066.1	3	.	.	.	.	.	.	.	.	.	.	C	6.755	0.508162	0.12883	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.47177	0.85;0.85	4.27	2.25	0.28309	.	0.135107	0.51477	D	0.000096	T	0.29355	0.0731	N	0.22421	0.69	0.20074	N	0.999937	B	0.30211	0.273	B	0.29176	0.099	T	0.20273	-1.0280	10	0.59425	D	0.04	-5.6347	6.5263	0.22303	0.2093:0.5879:0.2028:0.0	.	59	P20396	TRH_HUMAN	M	59	ENSP00000303452:I59M;ENSP00000426522:I59M	ENSP00000303452:I59M	I	+	3	3	TRH	131177526	0.757000	0.28394	0.833000	0.33012	0.004000	0.04260	0.419000	0.21247	1.103000	0.41568	0.555000	0.69702	ATC	TRH	-	pfam_TRH,pirsf_TRH		0.677	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRH	HGNC	protein_coding	OTTHUMT00000356592.1	C	NM_007117		129694836	1	no_errors	ENST00000302649	ensembl	human	known	70_37	missense	SNP	0.772	G	G	129694836	C	G	129694836	3	3	58	1	0	0	0	0	1	0	0	0	16509	845	30	1	179	1	TRH	3	129694836	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3556884	129694836	68327594	297	8047										
SLCO2A1	6578	genome.wustl.edu	37	chr3	133654649	133654649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcatcgttgtcatagtaggCgcaggcccctcgcctcccca	10	16	1	0	rs150503809		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:133654649C>T	ENST00000310926.4	-	13	2056	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A519T	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	595					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.A595T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TCATAGTAGGCGCAGGCCCCT	0.597																																																	1	Substitution - Missense(1)	cervix(1)						C	THR/ALA	0,4406		0,0,2203	75	64	68		1783	-0.9	0	3	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLCO2A1	NM_005630.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	595/644	133654649	1,13005	2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1783G>A	3.37:g.133654649C>T	ENSP00000311291:p.Ala595Thr		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.A595T	ENST00000310926.4	37	c.1783	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	5.252	0.231905	0.09969	0.0	1.16E-4	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.39229	1.09;1.09	5.4	-0.858	0.10689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.678279	0.16058	N	0.231621	T	0.27731	0.0682	L	0.58669	1.825	0.09310	N	1	B;P	0.43519	0.039;0.809	B;B	0.37601	0.005;0.254	T	0.17077	-1.0381	10	0.22109	T	0.4	.	2.4187	0.04442	0.121:0.3202:0.1183:0.4405	.	519;595	E7EU40;Q92959	.;SO2A1_HUMAN	T	595;519	ENSP00000311291:A595T;ENSP00000418893:A519T	ENSP00000311291:A595T	A	-	1	0	SLCO2A1	135137339	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.149000	0.10204	-0.369000	0.08028	0.561000	0.74099	GCC	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.597	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	C	NM_005630		133654649	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	0.000	T	T	133654649	C	T	133654649	3	4	58	1	0	0	0	0	1	0	0	0	14756	768	27	2	156	2	SLCO2A1	3	133654649	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3959813	133654649	64367781	298	8048										
ATP1B3	483	genome.wustl.edu	37	chr3	141626075	141626075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtaggtctgatccaacttCgtatgcagggtacattgaag	11	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:141626075C>T	ENST00000286371.3	+	3	493	c.305C>T	c.(304-306)tCg>tTg	p.S102L	ATP1B3_ENST00000539728.1_Missense_Mutation_p.S88L|ATP1B3_ENST00000462082.1_Intron	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	102					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.S102L(1)		cervix(1)|endometrium(1)|lung(2)	4						GATCCAACTTCGTATGCAGGG	0.343																																																	1	Substitution - Missense(1)	cervix(1)											90	90	90					3																	141626075		2203	4300	6503	SO:0001583	missense	483			BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"CD molecules", "ATPases / P-type"	806	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-3", "sodium pump subunit beta-3", "sodium-potassium ATPase subunit beta 3 (non-catalytic)"	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.305C>T	3.37:g.141626075C>T	ENSP00000286371:p.Ser102Leu		B7Z1N7	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.S102L	ENST00000286371.3	37	c.305	CCDS3121.1	3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338630	0.81911	.	.	ENSG00000069849	ENST00000475483;ENST00000286371;ENST00000539728;ENST00000495216	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.52	5.52	0.82312	.	0.429185	0.27821	N	0.017704	T	0.57873	0.2083	M	0.92507	3.315	0.43622	D	0.996006	D;D	0.58970	0.984;0.969	P;P	0.47075	0.536;0.536	T	0.71017	-0.4714	10	0.72032	D	0.01	-6.0312	17.9788	0.89134	0.0:1.0:0.0:0.0	.	88;102	D3DNF9;P54709	.;AT1B3_HUMAN	L	45;102;88;88	ENSP00000417522:S45L;ENSP00000286371:S102L;ENSP00000440307:S88L;ENSP00000419962:S88L	ENSP00000286371:S102L	S	+	2	0	ATP1B3	143108765	0.118000	0.22208	0.152000	0.22495	0.033000	0.12548	3.157000	0.50716	2.767000	0.95098	0.655000	0.94253	TCG	ATP1B3	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.343	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B3	HGNC	protein_coding	OTTHUMT00000353218.1	C	NM_001679		141626075	1	no_errors	ENST00000286371	ensembl	human	known	70_37	missense	SNP	0.787	T	T	141626075	C	T	141626075	3	4	58	1	0	0	0	0	1	0	0	0	1135	893	31	1	315	1	ATP1B3	3	141626075	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7971426	141626075	56396355	299	8049										
PLS1	5357	genome.wustl.edu	37	chr3	142388394	142388394	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagttttgaagagtttgtgtCagtaagtaatctaatccttt	8	5	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:142388394C>T	ENST00000337777.3	+	3	446	c.233C>T	c.(232-234)tCa>tTa	p.S78L	PLS1_ENST00000497002.1_Splice_Site_p.S78L|PLS1_ENST00000457734.2_Splice_Site_p.S78L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	78	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S78L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GAGTTTGTGTCAGTAAGTAAT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											154	162	159					3																	142388394		2203	4300	6503	SO:0001630	splice_region_variant	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.234+1C>T	3.37:g.142388394C>T			A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.S78L	ENST00000337777.3	37	c.233	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806664	0.70682	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000464320;ENST00000337777;ENST00000497002	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.38	5.38	0.77491	EF-hand-like domain (1);	0.180144	0.50627	D	0.000104	T	0.66538	0.2799	L	0.41356	1.27	0.80722	D	1	B	0.34181	0.44	B	0.38378	0.272	T	0.61242	-0.7102	10	0.18276	T	0.48	-9.4311	19.4872	0.95033	0.0:1.0:0.0:0.0	.	78	Q14651	PLSI_HUMAN	L	78	ENSP00000387890:S78L;ENSP00000417311:S78L;ENSP00000418880:S78L;ENSP00000336831:S78L;ENSP00000418700:S78L	ENSP00000336831:S78L	S	+	2	0	PLS1	143871084	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.839000	0.62810	2.664000	0.90586	0.650000	0.86243	TCA	PLS1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	C	NM_002670	Missense_Mutation	142388394	1	no_errors	ENST00000337777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142388394	C	T	142388394	5	4	58	1	0	0	0	0	0	0	1	0	12131	840	29	1	239	1	PLS1	3	142388394	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	762319	142388394	55634036	300	8050										
SR140	23350	genome.wustl.edu	37	chr3	142735174	142735174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagtgatggtaataaagtgAaaacatttgtgcgagggggt	15	2	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:142735174A>G	ENST00000473835.2	+	5	487	c.397A>G	c.(397-399)Aaa>Gaa	p.K133E	U2SURP_ENST00000493598.2_Missense_Mutation_p.K133E|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	133					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K133E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TAATAAAGTGAAAACATTTGT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											170	164	166					3																	142735174		1840	4093	5933	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.397A>G	3.37:g.142735174A>G	ENSP00000418563:p.Lys133Glu		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.K133E	ENST00000473835.2	37	c.397	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	A	32	5.107642	0.94292	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.14266	2.52;2.53	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.997;0.992	T	0.40079	-0.9582	10	0.59425	D	0.04	-22.1635	16.2473	0.82450	1.0:0.0:0.0:0.0	.	133;133;133	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	E	133;133;133;133;103	ENSP00000418563:K133E;ENSP00000422011:K133E	ENSP00000322376:K133E	K	+	1	0	U2SURP	144217864	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.774000	0.91767	2.238000	0.73509	0.533000	0.62120	AAA	U2SURP	-	NULL		0.353	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	A	NM_001080415		142735174	1	no_errors	ENST00000319822	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142735174	A	G	142735174	3	3	58	1	0	0	0	0	1	0	0	0	15161	247	9	5	415	5	SR140	3	142735174	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	346780	142735174	55287256	301	8051										
SR140	23350	genome.wustl.edu	37	chr3	142773937	142773937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atctcacaaagattctcctaGagatgttagcaaaaaagcca	6	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:142773937G>C	ENST00000473835.2	+	27	3017	c.2927G>C	c.(2926-2928)aGa>aCa	p.R976T	U2SURP_ENST00000397933.2_Missense_Mutation_p.R567T|U2SURP_ENST00000493598.2_Missense_Mutation_p.R975T	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	976	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GATTCTCCTAGAGATGTTAGC	0.388																																																	0													45	41	42					3																	142773937		1871	4100	5971	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2927G>C	3.37:g.142773937G>C	ENSP00000418563:p.Arg976Thr		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.R976T	ENST00000473835.2	37	c.2927	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533045	0.64972	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.20598	2.27;2.06;2.27	5.87	5.0	0.66597	.	0.086882	0.85682	D	0.000000	T	0.21962	0.0529	L	0.40543	1.245	0.80722	D	1	B;B;B	0.30281	0.275;0.275;0.18	B;B;B	0.33890	0.172;0.077;0.083	T	0.02885	-1.1098	10	0.48119	T	0.1	-17.313	15.3748	0.74596	0.0668:0.0:0.9332:0.0	.	975;567;976	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	T	976;976;567;975	ENSP00000418563:R976T;ENSP00000381027:R567T;ENSP00000422011:R975T	ENSP00000322376:R976T	R	+	2	0	U2SURP	144256627	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.184000	0.94893	1.632000	0.50472	-0.140000	0.14226	AGA	U2SURP	-	NULL		0.388	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	G	NM_001080415		142773937	1	no_errors	ENST00000319822	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142773937	G	C	142773937	3	2	58	1	0	0	0	0	1	0	0	0	15161	942	33	1	3033	1	SR140	3	142773937	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	38763	142773937	55248493	302	8052										
CP	1356	genome.wustl.edu	37	chr3	148927989	148927989	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttaaaggtccgatgagtcctGaggcaatatcttttggagca	11	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:148927989G>A	ENST00000264613.6	-	3	834	c.572C>T	c.(571-573)tCa>tTa	p.S191L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	191	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S191L(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GATGAGTCCTGAGGCAATATC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											195	170	179					3																	148927989		2203	4300	6503	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.572C>T	3.37:g.148927989G>A	ENSP00000264613:p.Ser191Leu		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.S191L	ENST00000264613.6	37	c.572	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.478782	0.96291	.	.	ENSG00000047457	ENST00000264613	D	0.99014	-5.33	5.8	5.8	0.92144	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99877	1.1106	10	0.54805	T	0.06	-9.1475	20.0465	0.97608	0.0:0.0:1.0:0.0	.	191;191	A8K5A4;P00450	.;CERU_HUMAN	L	191	ENSP00000264613:S191L	ENSP00000264613:S191L	S	-	2	0	CP	150410679	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.230000	0.95299	2.735000	0.93741	0.557000	0.71058	TCA	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.423	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	G	NM_000096		148927989	-1	no_errors	ENST00000264613	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148927989	G	A	148927989	3	1	58	1	0	0	0	0	1	0	0	0	3792	1294	45	1	2693	1	CP	3	148927989	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6154052	148927989	49094441	303	8053										
TSC22D2	9819	genome.wustl.edu	37	chr3	150127342	150127342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctgcgagcgcagctcttccGaagagacgcttaacaatgtt	10	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:150127342G>C	ENST00000361875.3	+	1	1221	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	TSC22D2_ENST00000361136.2_Missense_Mutation_p.E69Q	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	69					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E69Q(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAGCTCTTCCGAAGAGACGCT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											38	40	39					3																	150127342		2203	4300	6503	SO:0001583	missense	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.205G>C	3.37:g.150127342G>C	ENSP00000354543:p.Glu69Gln		D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.E69Q	ENST00000361875.3	37	c.205	CCDS3149.1	3	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598085	0.87055	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.25414	1.8;1.8	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000038	T	0.52468	0.1736	M	0.76170	2.325	0.49389	D	0.999787	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.59606	-0.7423	10	0.87932	D	0	.	16.9644	0.86281	0.0:0.0:1.0:0.0	.	69;69	O75157-2;O75157	.;T22D2_HUMAN	Q	69	ENSP00000354543:E69Q;ENSP00000354893:E69Q	ENSP00000354893:E69Q	E	+	1	0	TSC22D2	151610032	1.000000	0.71417	0.974000	0.42286	0.914000	0.54420	9.409000	0.97331	2.092000	0.63282	0.645000	0.84053	GAA	TSC22D2	-	NULL		0.637	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	G	NM_014779		150127342	1	no_errors	ENST00000361875	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150127342	G	C	150127342	3	2	58	1	0	0	0	0	1	0	0	0	16639	1059	37	1	207	1	TSC22D2	3	150127342	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1199353	150127342	47895088	304	8054										
EIF2A	83939	genome.wustl.edu	37	chr3	150293454	150293454	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcatgaagaggaaccacctCagaatatgaaaccacaatca	7	10	2	4	rs77894044		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:150293454C>T	ENST00000460851.1	+	11	1511	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	EIF2A_ENST00000482471.1_Intron|SERP1_ENST00000490945.1_Intron|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Nonsense_Mutation_p.Q407*|EIF2A_ENST00000487799.1_Nonsense_Mutation_p.Q443*|EIF2A_ENST00000383043.3_Nonsense_Mutation_p.Q254*|EIF2A_ENST00000273435.5_Nonsense_Mutation_p.Q463*			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	468					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.Q443*(1)|p.Q468*(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAACCACCTCAGAATATGAA	0.338																																																	2	Substitution - Nonsense(2)	cervix(2)											66	60	62					3																	150293454		1826	4078	5904	SO:0001587	stop_gained	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1402C>T	3.37:g.150293454C>T	ENSP00000417229:p.Gln468*		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Nonsense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pirsf_TIF2A	p.Q468*	ENST00000460851.1	37	c.1402	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.654536	0.98415	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-11.5647	19.5529	0.95328	0.0:1.0:0.0:0.0	.	.	.	.	X	443;468;407;463;254	.	ENSP00000273435:Q463X	Q	+	1	0	EIF2A	151776144	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.002000	0.76304	2.621000	0.88768	0.655000	0.94253	CAG	EIF2A	-	pirsf_TIF2A		0.338	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	C	NM_032025		150293454	1	no_errors	ENST00000460851	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	150293454	C	T	150293454	4	4	58	1	0	0	0	0	0	1	0	0	5005	827	29	1	1444	1	EIF2A	3	150293454	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	166112	150293454	47728976	305	8055										
MED12L	116931	genome.wustl.edu	37	chr3	151067972	151067972	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcctgaaaattctaaataaGaagagcaccacagagacagg	8	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:151067972G>A	ENST00000474524.1	+	15	2309	c.2271G>A	c.(2269-2271)aaG>aaA	p.K757K	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Silent_p.K617K|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	757						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K757K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATAAGAAGAGCACCA	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											100	104	103					3																	151067972		2203	4300	6503	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2271G>A	3.37:g.151067972G>A			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.K757	ENST00000474524.1	37	c.2271	CCDS33876.1	3																																																																																			MED12L	-	NULL		0.443	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	G	NM_053002		151067972	1	no_errors	ENST00000474524	ensembl	human	known	70_37	silent	SNP	1.000	A	A	151067972	G	A	151067972	2	1	58	1	0	0	0	0	0	0	0	1	9452	933	33	1		1	MED12L	3	151067972	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	774518	151067972	46954458	306	8056										
GMPS	8833	genome.wustl.edu	37	chr3	155632226	155632226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgataaatgctgctcattCtttctacaatggaacaacaa	6	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:155632226C>T	ENST00000496455.2	+	8	1240	c.905C>T	c.(904-906)tCt>tTt	p.S302F	GMPS_ENST00000295920.7_Missense_Mutation_p.S203F	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	302	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.S302F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCTGCTCATTCTTTCTACAAT	0.343			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	1	Substitution - Missense(1)	cervix(1)											115	105	108					3																	155632226		1835	4081	5916	SO:0001583	missense	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.905C>T	3.37:g.155632226C>T	ENSP00000419851:p.Ser302Phe		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.S302F	ENST00000496455.2	37	c.905	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249536	0.59212	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	T;T	0.43294	0.95;0.95	5.88	5.88	0.94601	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.060754	0.64402	D	0.000002	T	0.45256	0.1333	L	0.60067	1.865	0.80722	D	1	B;B	0.26363	0.037;0.147	B;B	0.33254	0.099;0.16	T	0.25222	-1.0138	10	0.31617	T	0.26	-10.6935	16.4624	0.84064	0.0:0.869:0.131:0.0	.	203;302	F8W720;P49915	.;GUAA_HUMAN	F	302;203;251;302	ENSP00000419851:S302F;ENSP00000295920:S203F	ENSP00000295920:S203F	S	+	2	0	GMPS	157114920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.555000	0.67301	2.780000	0.95670	0.655000	0.94253	TCT	GMPS	-	pfam_NAD/GMP_synthase,pfam_tRNA-specific_2-thiouridylase		0.343	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	C			155632226	1	no_errors	ENST00000496455	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155632226	C	T	155632226	3	4	58	1	0	0	0	0	1	0	0	0	6517	913	32	1	935	1	GMPS	3	155632226	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4564254	155632226	42390204	307	8057										
TIPARP	25976	genome.wustl.edu	37	chr3	156395966	156395966	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccacaccagctcacttccaGactgatcttttgcacccagt	5	16	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:156395966G>A	ENST00000461166.1	+	2	1068	c.480G>A	c.(478-480)caG>caA	p.Q160Q	TIPARP_ENST00000295924.7_Silent_p.Q160Q|TIPARP_ENST00000486483.1_Silent_p.Q160Q|TIPARP_ENST00000542783.1_Silent_p.Q160Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	160					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q160Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCACTTCCAGACTGATCTTT	0.463																																					Ovarian(171;276 1987 3319 6837 11197)												1	Substitution - coding silent(1)	cervix(1)											132	134	133					3																	156395966		2203	4300	6503	SO:0001819	synonymous_variant	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.480G>A	3.37:g.156395966G>A			D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q160	ENST00000461166.1	37	c.480	CCDS3177.1	3																																																																																			TIPARP	-	NULL		0.463	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	HGNC	protein_coding	OTTHUMT00000351618.1	G	NM_015508		156395966	1	no_errors	ENST00000295924	ensembl	human	known	70_37	silent	SNP	1.000	A	A	156395966	G	A	156395966	2	1	58	1	0	0	0	0	0	0	0	1	15954	933	33	1		1	TIPARP	3	156395966	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	763740	156395966	41626464	308	8058										
CCNL1	57018	genome.wustl.edu	37	chr3	156870834	156870834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctacaactcaccttatgaggAtgcttgacatgaacacaaaa	6	10	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:156870834A>G	ENST00000295926.3	-	4	718	c.600T>C	c.(598-600)caT>caC	p.H200H	CCNL1_ENST00000479052.1_5'UTR|CCNL1_ENST00000461804.1_Silent_p.H200H|Y_RNA_ENST00000364908.1_RNA	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	200					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.H200H(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CCTTATGAGGATGCTTGACAT	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											139	125	130					3																	156870834		2203	4300	6503	SO:0001819	synonymous_variant	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.600T>C	3.37:g.156870834A>G			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.H200	ENST00000295926.3	37	c.600	CCDS3178.1	3																																																																																			CCNL1	-	superfamily_Cyclin-like,pirsf_Cyclin_L		0.348	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	A	NM_020307		156870834	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	silent	SNP	0.999	G	G	156870834	A	G	156870834	2	3	58	1	0	0	0	0	0	0	0	1	2936	330	12	5		5	CCNL1	3	156870834	Silent	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	474868	156870834	41151596	309	8059										
CCNL1	57018	genome.wustl.edu	37	chr3	156877263	156877263	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacacctgccccgttgccatCgccacctgcagacaagagag	9	16	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:156877263C>G	ENST00000295926.3	-	2	427	c.309G>C	c.(307-309)gcG>gcC	p.A103A	CCNL1_ENST00000295925.4_Silent_p.A103A|CCNL1_ENST00000461804.1_Silent_p.A103A	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	103	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.A103A(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CCGTTGCCATCGCCACCTGCA	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											51	52	52					3																	156877263		2203	4300	6503	SO:0001819	synonymous_variant	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.309G>C	3.37:g.156877263C>G			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.A103	ENST00000295926.3	37	c.309	CCDS3178.1	3																																																																																			CCNL1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L		0.582	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	C	NM_020307		156877263	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	silent	SNP	0.999	G	G	156877263	C	G	156877263	2	3	58	1	0	0	0	0	0	0	0	1	2936	871	31	1		1	CCNL1	3	156877263	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6429	156877263	41145167	310	8060										
VEPH1	79674	genome.wustl.edu	37	chr3	157081331	157081331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttaacagtttctgacaaattCtctgagtctatatgtataat	5	6	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:157081331C>G	ENST00000362010.2	-	9	1864	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.E519D|VEPH1_ENST00000543418.1_Missense_Mutation_p.E519D|VEPH1_ENST00000392833.2_Missense_Mutation_p.E519D	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	519						plasma membrane (GO:0005886)		p.E519D(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGACAAATTCTCTGAGTCTA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											113	122	119					3																	157081331		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1557G>C	3.37:g.157081331C>G	ENSP00000354919:p.Glu519Asp		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E519D	ENST00000362010.2	37	c.1557	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	2.696	-0.272157	0.05716	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.12039	2.8;2.72;2.8;2.72	5.5	2.71	0.32032	.	0.402874	0.28151	N	0.016401	T	0.13200	0.0320	N	0.24115	0.695	0.09310	N	1	D;P	0.61697	0.99;0.47	P;B	0.55999	0.789;0.139	T	0.14615	-1.0466	10	0.21014	T	0.42	-1.0009	5.7538	0.18162	0.0:0.4933:0.2421:0.2647	.	519;519	Q14D04-2;Q14D04	.;MELT_HUMAN	D	519	ENSP00000376578:E519D;ENSP00000354919:E519D;ENSP00000446258:E519D;ENSP00000376577:E519D	ENSP00000354919:E519D	E	-	3	2	VEPH1	158564025	0.019000	0.18553	0.203000	0.23512	0.551000	0.35334	-0.256000	0.08757	0.271000	0.22005	-0.150000	0.13652	GAG	VEPH1	-	NULL		0.398	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	C	NM_024621		157081331	-1	no_errors	ENST00000362010	ensembl	human	known	70_37	missense	SNP	0.026	G	G	157081331	C	G	157081331	3	3	58	1	0	0	0	0	1	0	0	0	17185	912	32	1	968	1	VEPH1	3	157081331	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	204068	157081331	40941099	311	8061										
LRRC31	79782	genome.wustl.edu	37	chr3	169579586	169579586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggatctccattccatttctGaactgagaggcttagctgtg	10	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:169579586G>A	ENST00000316428.5	-	2	248	c.191C>T	c.(190-192)tCa>tTa	p.S64L	LRRC31_ENST00000523069.1_Missense_Mutation_p.S64L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S64L|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	64								p.S64L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTCCATTTCTGAACTGAGAGG	0.378																																																	1	Substitution - Missense(1)	cervix(1)											132	124	127					3																	169579586		1871	4106	5977	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.191C>T	3.37:g.169579586G>A	ENSP00000325978:p.Ser64Leu		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S64L	ENST00000316428.5	37	c.191	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474247	0.12521	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.07688	3.23;3.17;3.48	5.36	1.42	0.22433	.	1.056470	0.07480	N	0.903636	T	0.06005	0.0156	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.45071	-0.9286	10	0.27785	T	0.31	-10.8425	5.5166	0.16910	0.2508:0.1422:0.6071:0.0	.	64;64	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	L	64	ENSP00000325978:S64L;ENSP00000264676:S64L;ENSP00000429145:S64L	ENSP00000264676:S64L	S	-	2	0	LRRC31	171062280	0.766000	0.28496	0.016000	0.15963	0.000000	0.00434	0.944000	0.29043	0.233000	0.21120	-0.363000	0.07495	TCA	LRRC31	-	NULL		0.378	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169579586	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.016	A	A	169579586	G	A	169579586	3	1	58	1	0	0	0	0	1	0	0	0	9009	1294	45	1	1499	1	LRRC31	3	169579586	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	12498255	169579586	28442844	312	8062										
LRRC31	79782	genome.wustl.edu	37	chr3	169587429	169587429	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagcagcttaccagtctctGaggtggctgtcttctgtatc	10	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:169587429G>C	ENST00000316428.5	-	1	224	c.167C>G	c.(166-168)tCa>tGa	p.S56*	LRRC31_ENST00000523069.1_Nonsense_Mutation_p.S56*|LRRC31_ENST00000264676.5_Nonsense_Mutation_p.S56*|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	56								p.S56*(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACCAGTCTCTGAGGTGGCTGT	0.388																																																	1	Substitution - Nonsense(1)	cervix(1)											99	99	99					3																	169587429		1873	4103	5976	SO:0001587	stop_gained	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.167C>G	3.37:g.169587429G>C	ENSP00000325978:p.Ser56*		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S56*	ENST00000316428.5	37	c.167	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015876	0.75161	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	.	.	.	4.66	1.37	0.22104	.	2.557140	0.01501	N	0.017504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	6.5786	0.22581	0.3701:0.0:0.6299:0.0	.	.	.	.	X	56	.	ENSP00000264676:S56X	S	-	2	0	LRRC31	171070123	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.269000	0.08596	0.046000	0.15833	-0.471000	0.05019	TCA	LRRC31	-	NULL		0.388	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169587429	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	nonsense	SNP	0.013	C	C	169587429	G	C	169587429	4	2	58	1	0	0	0	0	0	1	0	0	9009	1294	45	1	1527	1	LRRC31	3	169587429	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7843	169587429	28435001	313	8063										
ATP11B	23200	genome.wustl.edu	37	chr3	182583386	182583386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacaccagactcttcagaagGaaacttatcttatcttagta	5	9	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:182583386G>A	ENST00000323116.5	+	13	1603	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	448					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G448E(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTTCAGAAGGAAACTTATCT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											117	118	118					3																	182583386		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1343G>A	3.37:g.182583386G>A	ENSP00000321195:p.Gly448Glu		Q96FN1|Q9UKK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G448E	ENST00000323116.5	37	c.1343	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.615448|3.615448	0.66672|0.66672	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|D	.|0.96136	.|-3.92	5.82|5.82	4.95|4.95	0.65309|0.65309	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);	.|1.063350	.|0.07310	.|N	.|0.875655	D|D	0.93818|0.93818	0.8023|0.8023	N|N	0.11651|0.11651	0.15|0.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.982	.|P;P	.|0.58660	.|0.843;0.812	D|D	0.87515|0.87515	0.2442|0.2442	5|10	.|0.48119	.|T	.|0.1	.|.	10.432|10.432	0.44413|0.44413	0.0701:0.1337:0.7962:0.0|0.0701:0.1337:0.7962:0.0	.|.	.|22;448	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	K|E	249|448	.|ENSP00000321195:G448E	.|ENSP00000321195:G448E	E|G	+|+	1|2	0|0	ATP11B|ATP11B	184066080|184066080	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.982000|0.982000	0.71751|0.71751	5.737000|5.737000	0.68606|0.68606	1.456000|1.456000	0.47831|0.47831	0.650000|0.650000	0.86243|0.86243	GAA|GGA	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.373	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	G	NM_014616		182583386	1	no_errors	ENST00000323116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182583386	G	A	182583386	3	1	58	1	0	0	0	0	1	0	0	0	1121	1174	41	1	1393	1	ATP11B	3	182583386	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	12995957	182583386	15439044	314	8064										
ABCC5	10057	genome.wustl.edu	37	chr3	183669665	183669665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttgacaaagacaactcctcGaatggctttcaggatcagca	8	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:183669665G>A	ENST00000334444.6	-	19	3034	c.2794C>T	c.(2794-2796)Cga>Tga	p.R932*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.R932*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	932	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R932*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACAACTCCTCGAATGGCTTTC	0.537																																																	1	Substitution - Nonsense(1)	cervix(1)											135	144	141					3																	183669665		2126	4245	6371	SO:0001587	stop_gained	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2794C>T	3.37:g.183669665G>A	ENSP00000333926:p.Arg932*		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R932*	ENST00000334444.6	37	c.2794	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.348850	0.98772	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	.	.	.	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5632	16.5091	0.84279	0.0:0.0:0.868:0.132	.	.	.	.	X	932	.	ENSP00000265586:R932X	R	-	1	2	ABCC5	185152359	1.000000	0.71417	0.386000	0.26170	0.977000	0.68977	4.783000	0.62403	1.489000	0.48450	-0.182000	0.12963	CGA	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.537	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	G	NM_005688		183669665	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	nonsense	SNP	0.990	A	A	183669665	G	A	183669665	4	1	58	1	0	0	0	0	0	1	0	0	56	1066	37	1	1567	1	ABCC5	3	183669665	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1086279	183669665	14352765	315	8065										
EIF2B5	8893	genome.wustl.edu	37	chr3	183858264	183858264	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaatatggtgcccgtgtctCcaacctacacatgtactcag	9	12	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:183858264C>G	ENST00000273783.3	+	7	1024	c.902C>G	c.(901-903)tCc>tGc	p.S301C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.S301C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	301					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.S301C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCGTGTCTCCAACCTACAC	0.532																																																	1	Substitution - Missense(1)	cervix(1)											277	260	266					3																	183858264		2203	4300	6503	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.902C>G	3.37:g.183858264C>G	ENSP00000273783:p.Ser301Cys		Q541Z1|Q96D04	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.S301C	ENST00000273783.3	37	c.902	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	c	17.24	3.340402	0.60963	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.96232	-3.95;-3.95	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.154940	0.64402	D	0.000015	D	0.94159	0.8126	L	0.52573	1.65	0.54753	D	0.999989	B;B	0.28783	0.022;0.222	B;B	0.22880	0.02;0.042	D	0.91980	0.5594	10	0.45353	T	0.12	.	16.5309	0.84359	0.0:0.8609:0.1391:0.0	.	301;301	E9PC74;Q13144	.;EI2BE_HUMAN	C	301;301;57	ENSP00000273783:S301C;ENSP00000409142:S301C	ENSP00000273783:S301C	S	+	2	0	EIF2B5	185340958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.032000	0.70918	2.746000	0.94184	0.563000	0.77884	TCC	EIF2B5	-	superfamily_Trimer_LpxA-like		0.532	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	C			183858264	1	no_errors	ENST00000273783	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183858264	C	G	183858264	3	3	58	1	0	0	0	0	1	0	0	0	5014	855	30	1	928	1	EIF2B5	3	183858264	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	188599	183858264	14164166	316	8066										
ABCF3	55324	genome.wustl.edu	37	chr3	183910898	183910898	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtccttttccagggcggcctGaggaggagtaccgtcaccag	14	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:183910898G>C	ENST00000429586.2	+	19	1944	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ABCF3_ENST00000292808.5_Missense_Mutation_p.E581Q|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	587	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E587Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCGGCCTGAGGAGGAGTA	0.632																																																	1	Substitution - Missense(1)	cervix(1)											63	60	61					3																	183910898		2203	4300	6503	SO:0001583	missense	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1759G>C	3.37:g.183910898G>C	ENSP00000411471:p.Glu587Gln		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E587Q	ENST00000429586.2	37	c.1759	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270846	0.40194	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.93604	-3.25;-3.25	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	L	0.47078	1.49	0.80722	D	1	B;B	0.29341	0.12;0.242	B;B	0.25987	0.047;0.065	D	0.87233	0.2261	10	0.21540	T	0.41	-25.4427	17.3916	0.87432	0.0:0.0:1.0:0.0	.	581;587	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	Q	587;581	ENSP00000411471:E587Q;ENSP00000292808:E581Q	ENSP00000292808:E581Q	E	+	1	0	ABCF3	185393592	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.559000	0.98135	2.650000	0.89964	0.563000	0.77884	GAG	ABCF3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.632	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	G	NM_018358		183910898	1	no_errors	ENST00000429586	ensembl	human	known	70_37	missense	SNP	1.000	C	C	183910898	G	C	183910898	3	2	58	1	0	0	0	0	1	0	0	0	67	1291	45	1	1833	1	ABCF3	3	183910898	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	52634	183910898	14111532	317	8067										
EIF4G1	1981	genome.wustl.edu	37	chr3	184040704	184040704	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgccagtatgcagaagccaGagggattgccacatatcagt	11	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:184040704G>A	ENST00000346169.2	+	13	2162	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K	EIF4G1_ENST00000434061.2_Missense_Mutation_p.E435K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E638K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E544K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E631K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E435K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E467K|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E544K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E631K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E467K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E638K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E591K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E591K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E638K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	631	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E631K(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGAAGCCAGAGGGATTGCC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											200	188	192					3																	184040704		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1891G>A	3.37:g.184040704G>A	ENSP00000316879:p.Glu631Lys		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E638K	ENST00000346169.2	37	c.1912	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247894	0.80024	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.81802	2.56	0.80722	D	1	D;P;P;P	0.53151	0.958;0.864;0.864;0.928	P;P;P;P	0.53809	0.735;0.515;0.515;0.515	T	0.72887	-0.4156	10	0.59425	D	0.04	-21.3051	19.3711	0.94488	0.0:0.0:1.0:0.0	.	638;631;631;638	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	631;591;544;631;638;638;572;467;638;544;631;631;638;591;467;467;435;435	ENSP00000316879:E631K;ENSP00000391935:E591K;ENSP00000376320:E544K;ENSP00000391412:E631K;ENSP00000413159:E638K;ENSP00000371767:E638K;ENSP00000403269:E572K;ENSP00000317600:E467K;ENSP00000338020:E638K;ENSP00000407682:E544K;ENSP00000343450:E631K;ENSP00000323737:E631K;ENSP00000416255:E638K;ENSP00000395974:E591K;ENSP00000398145:E467K;ENSP00000399858:E467K;ENSP00000411826:E435K;ENSP00000404754:E435K	ENSP00000323737:E631K	E	+	1	0	EIF4G1	185523398	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	9.263000	0.95617	2.814000	0.96858	0.563000	0.77884	GAG	EIF4G1	-	NULL		0.502	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	G	NM_182917		184040704	1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184040704	G	A	184040704	3	1	58	1	0	0	0	0	1	0	0	0	5048	943	33	1	1933	1	EIF4G1	3	184040704	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	129806	184040704	13981726	318	8068										
EIF4G1	1981	genome.wustl.edu	37	chr3	184040742	184040742	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgacgtggtgctggacaaGgttagtggcttcagttgggg	18	5	1	1	rs11559213		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:184040742G>C	ENST00000346169.2	+	13	2200	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	EIF4G1_ENST00000434061.2_Splice_Site_p.K447N|EIF4G1_ENST00000352767.3_Splice_Site_p.K650N|EIF4G1_ENST00000392537.2_Splice_Site_p.K556N|EIF4G1_ENST00000319274.6_Splice_Site_p.K643N|EIF4G1_ENST00000435046.2_Splice_Site_p.K447N|EIF4G1_ENST00000350481.5_Splice_Site_p.K479N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Splice_Site_p.K556N|EIF4G1_ENST00000342981.4_Splice_Site_p.K643N|EIF4G1_ENST00000441154.1_Splice_Site_p.K479N|EIF4G1_ENST00000382330.3_Splice_Site_p.K650N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Splice_Site_p.K603N|EIF4G1_ENST00000414031.1_Splice_Site_p.K603N|EIF4G1_ENST00000424196.1_Splice_Site_p.K650N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	643	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.K643N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGGACAAGGTTAGTGGCT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											186	177	180					3																	184040742		2203	4300	6503	SO:0001630	splice_region_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1929+1G>C	3.37:g.184040742G>C			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.K650N	ENST00000346169.2	37	c.1950	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328491	0.81690	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.91635	0.999;0.954;0.954;0.954	T	0.60772	-0.7197	10	0.40728	T	0.16	-23.5695	19.3711	0.94488	0.0:0.0:1.0:0.0	.	650;643;643;650	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	643;603;556;643;650;650;584;479;650;556;643;643;650;603;479;479;447;447	ENSP00000316879:K643N;ENSP00000391935:K603N;ENSP00000376320:K556N;ENSP00000391412:K643N;ENSP00000413159:K650N;ENSP00000371767:K650N;ENSP00000403269:K584N;ENSP00000317600:K479N;ENSP00000338020:K650N;ENSP00000407682:K556N;ENSP00000343450:K643N;ENSP00000323737:K643N;ENSP00000416255:K650N;ENSP00000395974:K603N;ENSP00000398145:K479N;ENSP00000399858:K479N;ENSP00000411826:K447N;ENSP00000404754:K447N	ENSP00000323737:K643N	K	+	3	2	EIF4G1	185523436	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.263000	0.95617	2.814000	0.96858	0.563000	0.77884	AAG	EIF4G1	-	NULL		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	G	NM_182917	Missense_Mutation	184040742	1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184040742	G	C	184040742	5	2	58	1	0	0	0	0	0	0	1	0	5048	1014	35	4	1971	4	EIF4G1	3	184040742	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	38	184040742	13981688	319	8069										
ETV5	2119	genome.wustl.edu	37	chr3	185798884	185798884	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttagcaccaagagcctgctCatggctacaagacgacagct	10	12	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:185798884C>T	ENST00000306376.5	-	6	559	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ETV5_ENST00000434744.1_Missense_Mutation_p.E105K|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.E147K	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	105					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E105K(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGAGCCTGCTCATGGCTACAA	0.532			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	2	Substitution - Missense(2)	cervix(2)											160	164	162					3																	185798884		2203	4300	6503	SO:0001583	missense	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.313G>A	3.37:g.185798884C>T	ENSP00000306894:p.Glu105Lys		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E147K	ENST00000306376.5	37	c.439	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510898	0.44660	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.04	5.04	0.67666	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.224710	0.43110	D	0.000603	T	0.23532	0.0569	L	0.33245	0.995	0.50039	D	0.99984	P;P	0.48089	0.905;0.905	P;P	0.50314	0.562;0.637	T	0.01869	-1.1257	10	0.13853	T	0.58	.	15.2917	0.73870	0.0:1.0:0.0:0.0	.	105;147	P41161;B7Z7D7	ETV5_HUMAN;.	K	105;105;147;105;105;105	ENSP00000306894:E105K;ENSP00000413755:E105K;ENSP00000441737:E147K;ENSP00000389707:E105K;ENSP00000412171:E105K;ENSP00000405157:E105K	ENSP00000306894:E105K	E	-	1	0	ETV5	187281578	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.502000	0.73695	2.337000	0.79520	0.563000	0.77884	GAG	ETV5	-	pfam_ETS_PEA3_N		0.532	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	C	NM_004454		185798884	-1	no_errors	ENST00000537818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	185798884	C	T	185798884	3	4	58	1	0	0	0	0	1	0	0	0	5294	835	29	1	1251	1	ETV5	3	185798884	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1758142	185798884	12223546	320	8070										
CLDN16	10686	genome.wustl.edu	37	chr3	190120149	190120149	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcacaaaatgccgaggcctCtggtgggaatgcgtcacaaa	12	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:190120149C>G	ENST00000264734.2	+	2	596	c.348C>G	c.(346-348)ctC>ctG	p.L116L	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	116					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.L116L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCCGAGGCCTCTGGTGGGAAT	0.473																																																	1	Substitution - coding silent(1)	cervix(1)											162	152	155					3																	190120149		2203	4300	6503	SO:0001819	synonymous_variant	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.348C>G	3.37:g.190120149C>G				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.L116	ENST00000264734.2	37	c.348	CCDS3296.1	3																																																																																			CLDN16	-	pfam_PMP22/EMP/MP20/Claudin		0.473	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	C	NM_006580		190120149	1	no_errors	ENST00000264734	ensembl	human	known	70_37	silent	SNP	1.000	G	G	190120149	C	G	190120149	2	3	58	1	0	0	0	0	0	0	0	1	3482	900	32	1		1	CLDN16	3	190120149	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4321265	190120149	7902281	321	8071										
PCYT1A	5130	genome.wustl.edu	37	chr3	195969477	195969477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcatcactgccagcagatGaataaggaatatcatcatgg	8	9	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:195969477G>A	ENST00000292823.2	-	7	693	c.521C>T	c.(520-522)tCa>tTa	p.S174L	PCYT1A_ENST00000431016.1_Missense_Mutation_p.S174L|PCYT1A_ENST00000419333.1_Missense_Mutation_p.S174L	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	174					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.S174L(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GCCAGCAGATGAATAAGGAAT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											106	98	101					3																	195969477		2203	4300	6503	SO:0001583	missense	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.521C>T	3.37:g.195969477G>A	ENSP00000292823:p.Ser174Leu		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like	p.S174L	ENST00000292823.2	37	c.521	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808436	0.70797	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	6.14	6.14	0.99180	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	N	0.25380	0.74	0.80722	D	1	B	0.24092	0.097	B	0.25140	0.058	D	0.87733	0.2580	10	0.40728	T	0.16	-19.4563	19.8479	0.96722	0.0:0.0:1.0:0.0	.	174	P49585	PCY1A_HUMAN	L	174;174;135;174;174;47;108	ENSP00000390968:S174L;ENSP00000292823:S174L;ENSP00000394617:S174L;ENSP00000400430:S174L;ENSP00000390458:S47L;ENSP00000402283:S108L	ENSP00000292823:S174L	S	-	2	0	PCYT1A	197453874	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.471000	0.97696	2.937000	0.99478	0.650000	0.86243	TCA	PCYT1A	-	pfam_Cytidylyltransf		0.428	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	G	NM_005017		195969477	-1	no_errors	ENST00000292823	ensembl	human	known	70_37	missense	SNP	1.000	A	A	195969477	G	A	195969477	3	1	58	1	0	0	0	0	1	0	0	0	11634	1294	45	1	598	1	PCYT1A	3	195969477	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5849328	195969477	2052953	322	8072										
PDE6B	5158	genome.wustl.edu	37	chr4	647895	647895	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgacgtgtggtctgtgctGatgggagagtcccagccgta	15	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:647895G>C	ENST00000496514.1	+	5	900	c.879G>C	c.(877-879)ctG>ctC	p.L293L	PDE6B_ENST00000255622.6_Silent_p.L293L|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Silent_p.L14L|RP11-1191J2.2_ENST00000598370.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	293	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.L293L(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGTCTGTGCTGATGGGAGAGT	0.667																																					GBM(71;463 1194 9848 25922 46834)												1	Substitution - coding silent(1)	cervix(1)											56	60	59					4																	647895		2203	4299	6502	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.879G>C	4.37:g.647895G>C			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L293	ENST00000496514.1	37	c.879	CCDS33932.1	4																																																																																			PDE6B	-	pfam_GAF,smart_GAF		0.667	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	G	NM_000283		647895	1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	0.990	C	C	647895	G	C	647895	2	2	58	1	0	0	0	0	0	0	0	1	11670	1277	45	1		1	PDE6B	4	647895	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		647895	190506381	323	8073										
MFSD10	10227	genome.wustl.edu	37	chr4	2935543	2935543	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcagcagcgtgaaggccagGaggtccagcaggaggccgag	18	10	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:2935543G>C	ENST00000329687.4	-	1	642	c.108C>G	c.(106-108)ctC>ctG	p.L36L	MFSD10_ENST00000514800.1_Silent_p.L36L|MFSD10_ENST00000507555.1_Silent_p.L36L|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000355443.4_Silent_p.L36L|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000508221.1_Silent_p.L36L|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	36					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)	p.L36L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGAAGGCCAGGAGGTCCAGCA	0.731																																																	1	Substitution - coding silent(1)	cervix(1)											27	28	28					4																	2935543		2195	4286	6481	SO:0001819	synonymous_variant	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.108C>G	4.37:g.2935543G>C			Q07706	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L36	ENST00000329687.4	37	c.108	CCDS3365.1	4																																																																																			MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.731	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	G	NM_001120		2935543	-1	no_errors	ENST00000329687	ensembl	human	known	70_37	silent	SNP	0.968	C	C	2935543	G	C	2935543	2	2	58	1	0	0	0	0	0	0	0	1	9551	1161	41	1		1	MFSD10	4	2935543	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2287648	2935543	188218733	324	8074										
HTT	3064	genome.wustl.edu	37	chr4	3109064	3109064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcgaacaagcaagagacccGaagaatcagtccaggagacc	10	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:3109064G>A	ENST00000355072.5	+	6	806	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	221					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.E221K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGAGACCCGAAGAATCAGT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											100	100	100					4																	3109064		1927	4142	6069	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.661G>A	4.37:g.3109064G>A	ENSP00000347184:p.Glu221Lys		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E221K	ENST00000355072.5	37	c.661	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.177569	0.94846	.	.	ENSG00000197386	ENST00000355072	T	0.65549	-0.16	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.83235	-0.0061	10	0.87932	D	0	.	19.7048	0.96068	0.0:0.0:1.0:0.0	.	221	P42858	HD_HUMAN	K	221	ENSP00000347184:E221K	ENSP00000347184:E221K	E	+	1	0	HTT	3078862	1.000000	0.71417	0.976000	0.42696	0.561000	0.35649	9.835000	0.99442	2.654000	0.90174	0.650000	0.86243	GAA	HTT	-	superfamily_ARM-type_fold		0.463	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3109064	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3109064	G	A	3109064	3	1	58	1	0	0	0	0	1	0	0	0	7477	1059	37	1	683	1	HTT	4	3109064	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	173521	3109064	188045212	325	8075										
HTT	3064	genome.wustl.edu	37	chr4	3182304	3182304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taagaggaacaaataaagctGatgcaggaaaagagcttgaa	11	4	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:3182304G>A	ENST00000355072.5	+	36	4820	c.4675G>A	c.(4675-4677)Gat>Aat	p.D1559N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1559					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.D1559N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAATAAAGCTGATGCAGGAAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											114	115	115					4																	3182304		1923	4111	6034	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4675G>A	4.37:g.3182304G>A	ENSP00000347184:p.Asp1559Asn		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D1559N	ENST00000355072.5	37	c.4675	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.842472	0.97016	.	.	ENSG00000197386	ENST00000355072	T	0.05513	3.43	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.00740	-1.1586	10	0.19147	T	0.46	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1559	P42858	HD_HUMAN	N	1559	ENSP00000347184:D1559N	ENSP00000347184:D1559N	D	+	1	0	HTT	3152102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	GAT	HTT	-	NULL		0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3182304	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3182304	G	A	3182304	3	1	58	1	0	0	0	0	1	0	0	0	7477	1290	45	1	4817	1	HTT	4	3182304	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	73240	3182304	187971972	326	8076										
STK32B	55351	genome.wustl.edu	37	chr4	5458578	5458578	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgcccatcgatgaaatcctCaacatgttcaaggtggagcg	10	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:5458578C>T	ENST00000282908.5	+	8	1133	c.711C>T	c.(709-711)ctC>ctT	p.L237L	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Silent_p.L190L|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000512636.1_Silent_p.L160L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.L237L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ATGAAATCCTCAACATGTTCA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											114	86	95					4																	5458578		2203	4300	6503	SO:0001819	synonymous_variant	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.711C>T	4.37:g.5458578C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L237	ENST00000282908.5	37	c.711	CCDS3380.1	4																																																																																			STK32B	-	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		0.572	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	C	NM_018401		5458578	1	no_errors	ENST00000282908	ensembl	human	known	70_37	silent	SNP	0.973	T	T	5458578	C	T	5458578	2	4	58	1	0	0	0	0	0	0	0	1	15328	813	29	1		1	STK32B	4	5458578	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2276274	5458578	185695698	327	8077										
CRMP1	1400	genome.wustl.edu	37	chr4	5858007	5858007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgaaagaggtcagtaggctgGacccaggttcaggaacaaca	13	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:5858007G>C	ENST00000397890.2	-	4	555	c.341C>G	c.(340-342)tCc>tGc	p.S114C	CRMP1_ENST00000512574.1_Missense_Mutation_p.S112C|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.S228C	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	114					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S228C(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAGTAGGCTGGACCCAGGTTC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											105	88	94					4																	5858007		2203	4300	6503	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.341C>G	4.37:g.5858007G>C	ENSP00000380987:p.Ser114Cys		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.S228C	ENST00000397890.2	37	c.683	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	g	9.952	1.220394	0.22457	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90504	-2.68;-2.68;-2.68	3.12	3.12	0.35913	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.566199	0.17541	N	0.170538	D	0.87779	0.6263	N	0.20685	0.6	0.27755	N	0.944033	B;B;B;P	0.45396	0.002;0.003;0.001;0.857	B;B;B;P	0.51229	0.019;0.008;0.008;0.663	T	0.82468	-0.0442	10	0.52906	T	0.07	-30.4213	13.4227	0.61007	0.0:0.0:1.0:0.0	.	228;112;114;51	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	C	228;114;114;112	ENSP00000321606:S228C;ENSP00000380987:S114C;ENSP00000425742:S112C	ENSP00000321606:S228C	S	-	2	0	CRMP1	5908908	0.006000	0.16342	1.000000	0.80357	0.977000	0.68977	0.613000	0.24299	1.589000	0.49982	0.632000	0.83419	TCC	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.498	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	G	NM_001313		5858007	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	missense	SNP	0.769	C	C	5858007	G	C	5858007	3	2	58	1	0	0	0	0	1	0	0	0	3895	1174	41	1	1421	1	CRMP1	4	5858007	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	399429	5858007	185296269	328	8078										
CRMP1	1400	genome.wustl.edu	37	chr4	5862760	5862760	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtgtcactcactgatcatCgtggtcccgcccaccagtgc	9	16	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:5862760C>G	ENST00000397890.2	-	3	520	c.306G>C	c.(304-306)acG>acC	p.T102T	CRMP1_ENST00000512574.1_Silent_p.T100T|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.T216T	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	102					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.T216T(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACTGATCATCGTGGTCCCGC	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											85	77	80					4																	5862760		2203	4300	6503	SO:0001819	synonymous_variant	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.306G>C	4.37:g.5862760C>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.T216	ENST00000397890.2	37	c.648	CCDS43207.1	4																																																																																			CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.577	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	C	NM_001313		5862760	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	silent	SNP	0.993	G	G	5862760	C	G	5862760	2	3	58	1	0	0	0	0	0	0	0	1	3895	871	31	1		1	CRMP1	4	5862760	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4753	5862760	185291516	329	8079										
CPZ	8532	genome.wustl.edu	37	chr4	8609103	8609103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcctaccccttcgacttctCcaagcacccccaggaggaga	8	17	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:8609103C>G	ENST00000360986.4	+	7	1352	c.1178C>G	c.(1177-1179)tCc>tGc	p.S393C	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S382C|CPZ_ENST00000382480.2_Missense_Mutation_p.S256C	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	393					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S393C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCGACTTCTCCAAGCACCCC	0.597											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											121	103	109					4																	8609103		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1178C>G	4.37:g.8609103C>G	ENSP00000354255:p.Ser393Cys	650	O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.S393C	ENST00000360986.4	37	c.1178	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	c	24.3	4.512995	0.85389	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03831	3.79;3.79;3.79	3.98	3.98	0.46160	Peptidase M14, carboxypeptidase A (2);	0.295288	0.34223	N	0.004147	T	0.22898	0.0553	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68621	0.956;0.959	T	0.08006	-1.0743	10	0.87932	D	0	-26.5248	16.154	0.81644	0.0:1.0:0.0:0.0	.	382;393	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	393;256;382	ENSP00000354255:S393C;ENSP00000371920:S256C;ENSP00000315074:S382C	ENSP00000315074:S382C	S	+	2	0	CPZ	8660003	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.684000	0.74538	1.783000	0.52377	0.444000	0.29173	TCC	CPZ	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.597	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	C	NM_003652		8609103	1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8609103	C	G	8609103	3	3	58	1	0	0	0	0	1	0	0	0	3844	855	30	1	1204	1	CPZ	4	8609103	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2746343	8609103	182545173	330	8080										
BOD1L	259282	genome.wustl.edu	37	chr4	13606335	13606335	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttccgatggagttttctctCtttcaggcttctccttggag	9	11	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:13606335C>G	ENST00000040738.5	-	10	2324	c.2189G>C	c.(2188-2190)aGa>aCa	p.R730T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	730	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R730T(1)									AGTTTTCTCTCTTTCAGGCTT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											89	88	88					4																	13606335		2203	4299	6502	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2189G>C	4.37:g.13606335C>G	ENSP00000040738:p.Arg730Thr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R730T	ENST00000040738.5	37	c.2189	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595712	0.28445	.	.	ENSG00000038219	ENST00000040738	T	0.07908	3.15	5.71	4.54	0.55810	.	0.130981	0.35096	N	0.003444	T	0.04227	0.0117	N	0.08118	0	0.22096	N	0.99937	B	0.29716	0.255	B	0.23275	0.045	T	0.35201	-0.9798	10	0.59425	D	0.04	-7.1626	8.3772	0.32451	0.0:0.1543:0.0:0.8457	.	730	Q8NFC6	BOD1L_HUMAN	T	730	ENSP00000040738:R730T	ENSP00000040738:R730T	R	-	2	0	BOD1L	13215433	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	2.906000	0.48735	1.000000	0.39049	-0.471000	0.05019	AGA	BOD1L1	-	NULL		0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13606335	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13606335	C	G	13606335	3	3	58	1	0	0	0	0	1	0	0	0	1484	913	32	1	7034	1	BOD1L	4	13606335	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4997232	13606335	177547941	331	8081										
BOD1L	259282	genome.wustl.edu	37	chr4	13606553	13606553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgataacaggggtagatgtCcgtcttttatgttctctttc	9	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:13606553C>T	ENST00000040738.5	-	10	2106	c.1971G>A	c.(1969-1971)cgG>cgA	p.R657R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	657	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R657R(1)									GGGTAGATGTCCGTCTTTTAT	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											162	163	163					4																	13606553		2203	4300	6503	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1971G>A	4.37:g.13606553C>T			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.R657	ENST00000040738.5	37	c.1971	CCDS3411.2	4																																																																																			BOD1L1	-	NULL		0.428	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13606553	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	silent	SNP	0.962	T	T	13606553	C	T	13606553	2	4	58	1	0	0	0	0	0	0	0	1	1484	842	30	1		1	BOD1L	4	13606553	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	218	13606553	177547723	332	8082										
CPEB2	132864	genome.wustl.edu	37	chr4	15009019	15009019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagcaatgcatggcagagatCatcgtagaaccggaaacatg	12	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:15009019C>T	ENST00000507071.1	+	2	529	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	CPEB2_ENST00000345451.3_Missense_Mutation_p.H148Y|CPEB2_ENST00000382395.3_Missense_Mutation_p.H148Y|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.H585Y|CPEB2_ENST00000538197.1_Missense_Mutation_p.H585Y|CPEB2_ENST00000259997.5_Missense_Mutation_p.H148Y|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Missense_Mutation_p.H585Y|CPEB2_ENST00000382401.3_Missense_Mutation_p.H148Y			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	148					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.H148Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TGGCAGAGATCATCGTAGAAC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											96	84	88					4																	15009019		2203	4300	6503	SO:0001583	missense	132864			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.442C>T	4.37:g.15009019C>T	ENSP00000424084:p.His148Tyr		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H585Y	ENST00000507071.1	37	c.1753		4	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543594	0.65198	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391	T;T;T;T;T;T;T;T	0.46451	0.89;0.89;0.87;0.95;0.88;0.88;0.89;0.92	5.33	5.33	0.75918	.	0.099859	0.64402	D	0.000001	T	0.52108	0.1714	N	0.26042	0.785	0.80722	D	1	D;D;B;B;D;P	0.53745	0.962;0.962;0.112;0.033;0.962;0.949	D;D;B;B;D;D	0.66716	0.946;0.946;0.034;0.051;0.946;0.914	T	0.48547	-0.9026	10	0.40728	T	0.16	-19.4042	18.372	0.90409	0.0:1.0:0.0:0.0	.	148;148;585;585;148;148	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	Y	585;585;585;148;148;148;148;148;127	ENSP00000443985:H585Y;ENSP00000437884:H585Y;ENSP00000414270:H585Y;ENSP00000424084:H148Y;ENSP00000334058:H148Y;ENSP00000371832:H148Y;ENSP00000371838:H148Y;ENSP00000259997:H148Y	ENSP00000259997:H148Y	H	+	1	0	CPEB2	14618117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.382000	0.79729	2.644000	0.89710	0.655000	0.94253	CAT	CPEB2	-	NULL		0.478	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	C	XM_059607		15009019	1	no_errors	ENST00000538197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15009019	C	T	15009019	3	4	58	1	0	0	0	0	1	0	0	0	3806	826	29	1	1759	1	CPEB2	4	15009019	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1402466	15009019	176145257	333	8083										
WDR19	57728	genome.wustl.edu	37	chr4	39217800	39217800	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggctgtaggaatgaataatCgagcttggttttatgtcctt	11	5	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:39217800C>T	ENST00000399820.3	+	12	1373	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.R247*|WDR19_ENST00000506503.1_Nonsense_Mutation_p.R407*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	407					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.R407*(1)		large_intestine(1)	1						AATGAATAATCGAGCTTGGTT	0.368																																																	1	Substitution - Nonsense(1)	cervix(1)											99	91	93					4																	39217800		1837	4088	5925	SO:0001587	stop_gained	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1219C>T	4.37:g.39217800C>T	ENSP00000382717:p.Arg407*		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R407*	ENST00000399820.3	37	c.1219	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.238169	0.98719	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	.	.	.	5.46	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7472	13.4078	0.60924	0.2818:0.7182:0.0:0.0	.	.	.	.	X	407;247;407;406	.	ENSP00000288634:R247X	R	+	1	2	WDR19	38894195	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.052000	0.49893	2.557000	0.86248	0.655000	0.94253	CGA	WDR19	-	superfamily_WD40_repeat_dom		0.368	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	C			39217800	1	no_errors	ENST00000399820	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	39217800	C	T	39217800	4	4	58	1	0	0	0	0	0	1	0	0	17310	876	31	1	1265	1	WDR19	4	39217800	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	24208781	39217800	151936476	334	8084										
RFC1	5981	genome.wustl.edu	37	chr4	39329178	39329178	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgccaccatcttcttattaGatctttggacacttccagtt	5	11	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:39329178G>C	ENST00000381897.1	-	5	663	c.530C>G	c.(529-531)tCt>tGt	p.S177C	RFC1_ENST00000349703.2_Missense_Mutation_p.S177C|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	177					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.S177C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTCTTATTAGATCTTTGGAC	0.343																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												1	Substitution - Missense(1)	cervix(1)											124	117	119					4																	39329178		2203	4300	6503	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.530C>G	4.37:g.39329178G>C	ENSP00000371321:p.Ser177Cys		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.S177C	ENST00000381897.1	37	c.530	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109987	0.77210	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.33654	1.4;1.4	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.74258	2.255	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62497	-0.6842	10	0.54805	T	0.06	-10.4838	17.952	0.89056	0.0:0.0:1.0:0.0	.	177;177	P35251;P35251-2	RFC1_HUMAN;.	C	177	ENSP00000371321:S177C;ENSP00000261424:S177C	ENSP00000261424:S177C	S	-	2	0	RFC1	39005573	1.000000	0.71417	0.982000	0.44146	0.777000	0.43975	7.358000	0.79466	2.736000	0.93811	0.643000	0.83706	TCT	RFC1	-	pirsf_DNA_replication_fac_C_lsu		0.343	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	G	NM_002913		39329178	-1	no_errors	ENST00000381897	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39329178	G	C	39329178	3	2	58	1	0	0	0	0	1	0	0	0	13274	942	33	1	2997	1	RFC1	4	39329178	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	111378	39329178	151825098	335	8085										
PDS5A	23244	genome.wustl.edu	37	chr4	39905724	39905724	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttatccagctgactttctCtgcagcttcctttcctgctt	5	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:39905724C>G	ENST00000303538.8	-	12	1860	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	PDS5A_ENST00000503396.1_Missense_Mutation_p.E441Q	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.E441Q(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGACTTTCTCTGCAGCTTCC	0.383																																																	2	Substitution - Missense(2)	cervix(2)											83	75	77					4																	39905724		1862	4117	5979	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1321G>C	4.37:g.39905724C>G	ENSP00000303427:p.Glu441Gln			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E441Q	ENST00000303538.8	37	c.1321	CCDS47045.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254849|2.254849	0.39896|0.39896	.|.	.|.	ENSG00000121892|ENSG00000121892	ENST00000303538;ENST00000503396|ENST00000513798	T|.	0.66815|.	-0.23|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Armadillo-type fold (1);|.	0.129336|.	0.51477|.	D|.	0.000100|.	T|T	0.50752|0.50752	0.1634|0.1634	N|N	0.14661|0.14661	0.345|0.345	0.40635|0.40635	D|D	0.981899|0.981899	B;B|.	0.16802|.	0.009;0.019|.	B;B|.	0.21360|.	0.008;0.034|.	T|T	0.48559|0.48559	-0.9025|-0.9025	9|5	.|.	.|.	.|.	-14.6652|-14.6652	18.7363|18.7363	0.91756|0.91756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	441;441|.	Q29RF7-3;Q29RF7|.	.;PDS5A_HUMAN|.	Q|H	441|78	ENSP00000303427:E441Q|.	.|.	E|Q	-|-	1|3	0|2	PDS5A|PDS5A	39582119|39582119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.183000|2.183000	0.42565|0.42565	2.502000|2.502000	0.84385|0.84385	0.655000|0.655000	0.94253|0.94253	GAG|CAG	PDS5A	-	superfamily_ARM-type_fold		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39905724	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39905724	C	G	39905724	3	3	58	1	0	0	0	0	1	0	0	0	11715	922	32	1	2813	1	PDS5A	4	39905724	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	576546	39905724	151248552	336	8086										
BEND4	389206	genome.wustl.edu	37	chr4	42145723	42145723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggagttggaaagcttcccGagagcaggtaattttgtaga	13	5	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:42145723G>A	ENST00000502486.1	-	3	1355	c.776C>T	c.(775-777)tCg>tTg	p.S259L	BEND4_ENST00000504360.1_Missense_Mutation_p.S255L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	259								p.S255L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAAGCTTCCCGAGAGCAGGTA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											92	93	93					4																	42145723		1901	4115	6016	SO:0001583	missense	389206			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.776C>T	4.37:g.42145723G>A	ENSP00000421169:p.Ser259Leu		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	pfam_BEN_domain	p.S259L	ENST00000502486.1	37	c.776	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040121	0.93630	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	5.52	0.82312	.	0.065131	0.64402	D	0.000005	T	0.49423	0.1556	N	0.24115	0.695	0.80722	D	1	D;D;D	0.59767	0.986;0.976;0.986	P;B;P	0.47626	0.552;0.349;0.552	T	0.55742	-0.8093	9	0.87932	D	0	-16.4146	19.4558	0.94889	0.0:0.0:1.0:0.0	.	181;259;259	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	130;259;255	.	ENSP00000412495:S130L	S	-	2	0	BEND4	41840480	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	9.229000	0.95273	2.611000	0.88343	0.655000	0.94253	TCG	BEND4	-	NULL		0.468	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	G	NM_207406		42145723	-1	no_errors	ENST00000502486	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42145723	G	A	42145723	3	1	58	1	0	0	0	0	1	0	0	0	1401	1059	37	1	844	1	BEND4	4	42145723	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2239999	42145723	149008553	337	8087										
ATP8A1	10396	genome.wustl.edu	37	chr4	42467017	42467017	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgacatcatttgctccatCaccgattgcaagcgttacga	8	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:42467017C>G	ENST00000381668.5	-	26	2632	c.2401G>C	c.(2401-2403)Gat>Cat	p.D801H	ATP8A1_ENST00000264449.10_Missense_Mutation_p.D786H	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	801					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D786H(1)|p.D801H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTGCTCCATCACCGATTGCA	0.428																																																	2	Substitution - Missense(2)	cervix(2)											184	152	163					4																	42467017		2203	4300	6503	SO:0001583	missense	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2401G>C	4.37:g.42467017C>G	ENSP00000371084:p.Asp801His		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D801H	ENST00000381668.5	37	c.2401	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612467	0.66672	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.97850	-4.57;-4.57	5.38	4.53	0.55603	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	H	0.99642	4.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.98027	1.0374	10	0.87932	D	0	.	14.2347	0.65919	0.0:0.9276:0.0:0.0724	.	786;801;793	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	H	801;786	ENSP00000371084:D801H;ENSP00000264449:D786H	ENSP00000264449:D786H	D	-	1	0	ATP8A1	42161774	1.000000	0.71417	0.860000	0.33809	0.582000	0.36321	7.680000	0.84062	1.397000	0.46682	0.585000	0.79938	GAT	ATP8A1	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.428	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	C	NM_006095		42467017	-1	no_errors	ENST00000381668	ensembl	human	known	70_37	missense	SNP	0.999	G	G	42467017	C	G	42467017	3	3	58	1	0	0	0	0	1	0	0	0	1193	826	29	1	1141	1	ATP8A1	4	42467017	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	321294	42467017	148687259	338	8088										
FIP1L1	81608	genome.wustl.edu	37	chr4	54319101	54319101	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttagttgcctttccccatCttcctggttctgctccttcg	6	15	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:54319101C>T	ENST00000337488.6	+	16	1494	c.1300C>T	c.(1300-1302)Ctt>Ttt	p.L434F	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L360F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L428F	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	434					mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L434F(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTTCCCCATCTTCCTGGTTC	0.408			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	1	Substitution - Missense(1)	cervix(1)											162	145	151					4																	54319101		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1300C>T	4.37:g.54319101C>T	ENSP00000336752:p.Leu434Phe		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.L434F	ENST00000337488.6	37	c.1300	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461763	0.63513	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	.	.	.	5.14	3.34	0.38264	.	0.213221	0.33610	N	0.004736	T	0.64918	0.2642	L	0.36672	1.1	0.80722	D	1	D;D;P;D	0.69078	0.997;0.995;0.571;0.995	D;D;B;D	0.75484	0.986;0.969;0.183;0.979	T	0.62129	-0.6919	9	0.40728	T	0.16	-12.4897	13.0395	0.58891	0.424:0.576:0.0:0.0	.	428;428;360;434	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	F	434;428;360;91	.	ENSP00000302993:L360F	L	+	1	0	FIP1L1	54013858	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.441000	0.44864	0.611000	0.30052	-0.181000	0.13052	CTT	FIP1L1	-	NULL		0.408	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	C	NM_030917		54319101	1	no_errors	ENST00000337488	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54319101	C	T	54319101	3	4	58	1	0	0	0	0	1	0	0	0	5914	913	32	1	1393	1	FIP1L1	4	54319101	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	11852084	54319101	136835175	339	8089										
SRD5A3	79644	genome.wustl.edu	37	chr4	56230311	56230311	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacagcttacgaagactcttCgagtgcctctacgtcagtgt	9	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:56230311C>T	ENST00000264228.4	+	3	663	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	145					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.F145F(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GAAGACTCTTCGAGTGCCTCT	0.478																																																	2	Substitution - coding silent(2)	cervix(1)|large_intestine(1)											279	225	243					4																	56230311		2203	4300	6503	SO:0001819	synonymous_variant	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.435C>T	4.37:g.56230311C>T			Q4W5Q6	Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.F145	ENST00000264228.4	37	c.435	CCDS3498.1	4																																																																																			SRD5A3	-	NULL		0.478	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3	HGNC	protein_coding	OTTHUMT00000250644.2	C	NM_024592		56230311	1	no_errors	ENST00000264228	ensembl	human	known	70_37	silent	SNP	0.834	T	T	56230311	C	T	56230311	2	4	58	1	0	0	0	0	0	0	0	1	15170	883	31	1		1	SRD5A3	4	56230311	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1911210	56230311	134923965	340	8090										
EXOC1	55763	genome.wustl.edu	37	chr4	56736998	56736998	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaacaaatggatcagatctCtgaaagcaaccacctaattc	6	10	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:56736998C>T	ENST00000381295.2	+	6	1106	c.758C>T	c.(757-759)tCt>tTt	p.S253F	EXOC1_ENST00000349598.6_Missense_Mutation_p.S253F|EXOC1_ENST00000346134.7_Missense_Mutation_p.S253F	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	253					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S253F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATCAGATCTCTGAAAGCAAC	0.353																																																	1	Substitution - Missense(1)	cervix(1)											101	105	103					4																	56736998		2203	4300	6503	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.758C>T	4.37:g.56736998C>T	ENSP00000370695:p.Ser253Phe		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.S253F	ENST00000381295.2	37	c.758	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604166	0.87157	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.65010	0.931;0.926	T	0.75436	-0.3318	9	0.87932	D	0	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	253;253	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	F	253	.	ENSP00000326514:S253F	S	+	2	0	EXOC1	56431755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	TCT	EXOC1	-	pfam_Exocyst_Exoc1		0.353	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	C	NM_018261		56736998	1	no_errors	ENST00000346134	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56736998	C	T	56736998	3	4	58	1	0	0	0	0	1	0	0	0	5313	913	32	1	776	1	EXOC1	4	56736998	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	506687	56736998	134417278	341	8091										
TMPRSS11D	9407	genome.wustl.edu	37	chr4	68719872	68719872	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atattcaacatttaggagttGaaaactgctcctataaaagt	6	6	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:68719872G>C	ENST00000283916.6	-	3	261	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	55	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q55E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TTTAGGAGTTGAAAACTGCTC	0.308																																																	1	Substitution - Missense(1)	cervix(1)											54	58	57					4																	68719872		2203	4289	6492	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.163C>G	4.37:g.68719872G>C	ENSP00000283916:p.Gln55Glu		Q08AF6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q55E	ENST00000283916.6	37	c.163	CCDS3518.1	4	.	.	.	.	.	.	.	.	.	.	G	4.765	0.142339	0.09083	.	.	ENSG00000153802	ENST00000283916	T	0.37752	1.18	5.3	-0.877	0.10621	SEA (3);	0.656003	0.14146	N	0.338325	T	0.28134	0.0694	L	0.56769	1.78	0.09310	N	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.36986	-0.9725	10	0.11794	T	0.64	.	9.1965	0.37231	0.0:0.3577:0.2758:0.3666	.	55	O60235	TM11D_HUMAN	E	55	ENSP00000283916:Q55E	ENSP00000283916:Q55E	Q	-	1	0	TMPRSS11D	68402467	0.973000	0.33851	0.006000	0.13384	0.174000	0.22865	0.227000	0.17795	-0.434000	0.07275	-0.257000	0.10917	CAA	TMPRSS11D	-	pfam_SEA,smart_SEA,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA		0.308	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11D	HGNC	protein_coding	OTTHUMT00000251430.3	G	NM_004262		68719872	-1	no_errors	ENST00000283916	ensembl	human	known	70_37	missense	SNP	0.003	C	C	68719872	G	C	68719872	3	2	58	1	0	0	0	0	1	0	0	0	16271	1299	45	1	1125	1	TMPRSS11D	4	68719872	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	11982874	68719872	122434404	342	8092										
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68777208	68777208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatcccttgtgactaaaggtCccccagaatcaccctaaaaa	6	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:68777208C>T	ENST00000334830.7	-	10	1864	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.G369E|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G370E			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.G373E(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GACTAAAGGTCCCCCAGAATC	0.343																																					NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	cervix(1)											91	88	89					4																	68777208		2203	4300	6503	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1118G>A	4.37:g.68777208C>T	ENSP00000334611:p.Gly373Glu		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G373E	ENST00000334830.7	37	c.1118	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975577	0.74360	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.57	4.73	0.59995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.52532	D	0.000078	D	0.98614	0.9536	H	0.95850	3.73	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99129	1.0852	10	0.87932	D	0	.	12.2948	0.54840	0.0:0.9174:0.0:0.0826	.	370;373	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	E	369;373;370;337	ENSP00000426911:G369E;ENSP00000334611:G373E;ENSP00000379491:G370E;ENSP00000427621:G337E	ENSP00000334611:G373E	G	-	2	0	TMPRSS11A	68459803	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.463000	0.80869	1.362000	0.46000	0.460000	0.39030	GGA	TMPRSS11A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.343	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	C	NM_182606		68777208	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68777208	C	T	68777208	3	4	58	1	0	0	0	0	1	0	0	0	16269	855	30	1	151	1	TMPRSS11A	4	68777208	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	57336	68777208	122377068	343	8093										
UGT2B15	7366	genome.wustl.edu	37	chr4	69528803	69528803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttactgatcatcgaccccaGagaaaacaccacaataccat	5	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:69528803G>C	ENST00000338206.5	-	3	937	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	310					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATCGACCCCAGAGAAAACACC	0.423																																																	0													33	32	32					4																	69528803		2179	4240	6419	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.928C>G	4.37:g.69528803G>C	ENSP00000341045:p.Leu310Val		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L310V	ENST00000338206.5	37	c.928	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	g	11.51	1.661395	0.29515	.	.	ENSG00000196620	ENST00000338206	T	0.66099	-0.19	2.54	1.68	0.24146	.	0.098154	0.42053	U	0.000775	T	0.74351	0.3705	H	0.95679	3.705	0.23238	N	0.998066	P	0.43788	0.817	P	0.50896	0.653	T	0.68100	-0.5498	10	0.87932	D	0	.	3.1286	0.06415	0.1544:0.0:0.5845:0.2611	.	310	P54855	UDB15_HUMAN	V	310	ENSP00000341045:L310V	ENSP00000341045:L310V	L	-	1	2	UGT2B15	69211398	0.983000	0.35010	0.994000	0.49952	0.729000	0.41735	2.022000	0.41030	0.399000	0.25367	0.455000	0.32223	CTG	UGT2B15	-	pfam_UDP_glucos_trans		0.423	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	G	NM_001076		69528803	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	0.966	C	C	69528803	G	C	69528803	3	2	58	1	0	0	0	0	1	0	0	0	16989	933	33	1	2297	1	UGT2B15	4	69528803	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	751595	69528803	121625473	344	8094										
SULT1B1	27284	genome.wustl.edu	37	chr4	70620485	70620485	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atatctccatcatttagaatCatgtctataatttcactaac	2	9	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:70620485C>T	ENST00000310613.3	-	3	477	c.180G>A	c.(178-180)atG>atA	p.M60I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	60					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.M60I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CATTTAGAATCATGTCTATAA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											101	108	105					4																	70620485		2203	4294	6497	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.180G>A	4.37:g.70620485C>T	ENSP00000308770:p.Met60Ile		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M60I	ENST00000310613.3	37	c.180	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636746	0.47049	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	D;D;D	0.82619	-1.63;-1.63;-1.63	4.96	4.96	0.65561	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000005	D	0.86830	0.6027	M	0.89715	3.055	0.47778	D	0.999511	B	0.19200	0.034	B	0.23852	0.049	D	0.86163	0.1595	10	0.66056	D	0.02	.	16.0762	0.80969	0.0:1.0:0.0:0.0	.	60	O43704	ST1B1_HUMAN	I	60;60;41	ENSP00000308770:M60I;ENSP00000425464:M60I;ENSP00000427536:M41I	ENSP00000308770:M60I	M	-	3	0	SULT1B1	70655074	0.841000	0.29509	0.606000	0.28943	0.167000	0.22549	0.859000	0.27858	2.484000	0.83849	0.460000	0.39030	ATG	SULT1B1	-	pfam_Sulfotransferase_dom		0.348	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70620485	-1	no_errors	ENST00000310613	ensembl	human	known	70_37	missense	SNP	0.993	T	T	70620485	C	T	70620485	3	4	58	1	0	0	0	0	1	0	0	0	15406	826	29	1	734	1	SULT1B1	4	70620485	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1091682	70620485	120533791	345	8095										
SHROOM3	57619	genome.wustl.edu	37	chr4	77677800	77677800	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggcagccagcacccatccaGactcaaagcctcagccatga	9	16	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:77677800G>A	ENST00000296043.6	+	8	5861	c.4908G>A	c.(4906-4908)caG>caA	p.Q1636Q	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1636					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.Q1635Q(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CACCCATCCAGACTCAAAGCC	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											82	87	85					4																	77677800		2203	4300	6503	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4908G>A	4.37:g.77677800G>A			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q1636	ENST00000296043.6	37	c.4908	CCDS3579.2	4																																																																																			SHROOM3	-	NULL		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	G	NM_020859		77677800	1	no_errors	ENST00000296043	ensembl	human	known	70_37	silent	SNP	0.000	A	A	77677800	G	A	77677800	2	1	58	1	0	0	0	0	0	0	0	1	14325	933	33	1		1	SHROOM3	4	77677800	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7057315	77677800	113476476	346	8096										
HELQ	113510	genome.wustl.edu	37	chr4	84368045	84368045	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagtttcaatcaaggagttCaccaagctatgtcctttttc	6	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:84368045C>T	ENST00000295488.3	-	4	1497	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	445	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.V445V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TCAAGGAGTTCACCAAGCTAT	0.348								Other identified genes with known or suspected DNA repair function																																									1	Substitution - coding silent(1)	cervix(1)											139	134	136					4																	84368045		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1335G>A	4.37:g.84368045C>T			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V445	ENST00000295488.3	37	c.1335	CCDS3603.1	4																																																																																			HELQ	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.348	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84368045	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	silent	SNP	1.000	T	T	84368045	C	T	84368045	2	4	58	1	0	0	0	0	0	0	0	1	7067	813	29	1		1	HELQ	4	84368045	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6690245	84368045	106786231	347	8097										
ARHGAP24	83478	genome.wustl.edu	37	chr4	86916229	86916229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctggtaccaaaatgggcacGcacagtgtacagaatggaac	11	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517																																																	2	Substitution - coding silent(2)	cervix(2)											84	84	84					4																	86916229		2203	4300	6503	SO:0001819	synonymous_variant	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1422G>A	4.37:g.86916229G>A			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.T474	ENST00000395184.1	37	c.1422	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL		0.517	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	G	NM_031305		86916229	1	no_errors	ENST00000395184	ensembl	human	known	70_37	silent	SNP	0.526	A	A	86916229	G	A	86916229	2	1	58	1	0	0	0	0	0	0	0	1	873	1074	38	2		2	ARHGAP24	4	86916229	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2548184	86916229	104238047	348	8098										
PTPN13	5783	genome.wustl.edu	37	chr4	87685874	87685874	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacagcttggggataagtgtCacggtactgtttgacaaggt	13	6	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:87685874C>T	ENST00000411767.2	+	25	4209	c.4146C>T	c.(4144-4146)gtC>gtT	p.V1382V	PTPN13_ENST00000316707.6_Silent_p.V1191V|PTPN13_ENST00000436978.1_Silent_p.V1382V|PTPN13_ENST00000427191.2_Silent_p.V1363V|PTPN13_ENST00000511467.1_Silent_p.V1382V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1382	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.V1382V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATAAGTGTCACGGTACTGT	0.338																																																	1	Substitution - coding silent(1)	cervix(1)											108	105	106					4																	87685874		1831	4088	5919	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4146C>T	4.37:g.87685874C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V1382	ENST00000411767.2	37	c.4146	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.338	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	C			87685874	1	no_errors	ENST00000436978	ensembl	human	known	70_37	silent	SNP	1.000	T	T	87685874	C	T	87685874	2	4	58	1	0	0	0	0	0	0	0	1	12810	813	29	1		1	PTPN13	4	87685874	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	769645	87685874	103468402	349	8099										
AFF1	4299	genome.wustl.edu	37	chr4	88047478	88047478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagggctccagaagctcctCggagcacaaggtgagcaggg	16	10	0	2	rs140882176		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:88047478C>T	ENST00000307808.6	+	13	3200	c.2780C>T	c.(2779-2781)tCg>tTg	p.S927L	AFF1_ENST00000395146.4_Missense_Mutation_p.S934L|AFF1_ENST00000544085.1_Missense_Mutation_p.S565L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	927					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S934L(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGAAGCTCCTCGGAGCACAAG	0.532																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/SER,LEU/SER	0,4406		0,0,2203	50	52	51		2780,2801	4.6	0	4	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFF1	NM_005935.2,NM_001166693.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	927/1211,934/1219	88047478	1,13005	2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2780C>T	4.37:g.88047478C>T	ENSP00000305689:p.Ser927Leu		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S934L	ENST00000307808.6	37	c.2801	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079895	0.36662	0.0	1.16E-4	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.64438	-0.1;-0.1;-0.1	5.43	4.58	0.56647	.	0.899012	0.09531	N	0.789515	T	0.50309	0.1608	L	0.36672	1.1	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.19946	0.027;0.027;0.027	T	0.42103	-0.9471	10	0.48119	T	0.1	0.1858	7.4799	0.27398	0.2036:0.7122:0.0:0.0842	.	934;927;927	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	L	934;927;565	ENSP00000378578:S934L;ENSP00000305689:S927L;ENSP00000440843:S565L	ENSP00000305689:S927L	S	+	2	0	AFF1	88266502	0.003000	0.15002	0.005000	0.12908	0.007000	0.05969	1.726000	0.38085	1.265000	0.44215	0.650000	0.86243	TCG	AFF1	-	pfam_TF_AF4/FMR2		0.532	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	C	NM_005935		88047478	1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	0.002	T	T	88047478	C	T	88047478	3	4	58	1	0	0	0	0	1	0	0	0	356	893	31	1	2872	1	AFF1	4	88047478	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	361604	88047478	103106798	350	8100										
HSD17B11	51170	genome.wustl.edu	37	chr4	88312083	88312083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggcagtcagtctcccaattCcatgcccagctcctgtaatc	7	15	2	0	rs377701964		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:88312083C>G	ENST00000358290.4	-	1	455	c.140G>C	c.(139-141)gGa>gCa	p.G47A	HSD17B11_ENST00000507286.1_Missense_Mutation_p.G47A	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	47					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.G47A(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTCCCAATTCCATGCCCAGC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											113	116	115					4																	88312083		2203	4300	6503	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.140G>C	4.37:g.88312083C>G	ENSP00000351035:p.Gly47Ala		Q96HF6|Q9UKU4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G47A	ENST00000358290.4	37	c.140	CCDS3619.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.106630	0.94292	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.95377	-3.69;-0.39	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.98570	0.9522	H	0.98559	4.265	0.80722	D	1	D	0.57899	0.981	P	0.56751	0.805	D	0.99184	1.0868	10	0.87932	D	0	.	20.0538	0.97638	0.0:1.0:0.0:0.0	.	47	Q8NBQ5	DHB11_HUMAN	A	47	ENSP00000351035:G47A;ENSP00000423775:G47A	ENSP00000351035:G47A	G	-	2	0	HSD17B11	88531107	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.612000	0.74187	2.838000	0.97847	0.655000	0.94253	GGA	HSD17B11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.423	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	C	NM_016245		88312083	-1	no_errors	ENST00000358290	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88312083	C	G	88312083	3	3	58	1	0	0	0	0	1	0	0	0	7400	855	30	1	790	1	HSD17B11	4	88312083	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	264605	88312083	102842193	351	8101										
FAM13A	10144	genome.wustl.edu	37	chr4	89941646	89941646	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaatcgaggctgcaacgctGaggtgatcagactgtcaggc	14	9	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:89941646G>C	ENST00000264344.5	-	3	599	c.392C>G	c.(391-393)tCa>tGa	p.S131*	FAM13A_ENST00000511976.1_5'UTR|FAM13A_ENST00000515600.1_Nonsense_Mutation_p.S131*|FAM13A_ENST00000509094.1_Nonsense_Mutation_p.S131*|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	131	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S131*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGCAACGCTGAGGTGATCAG	0.517																																																	1	Substitution - Nonsense(1)	cervix(1)											69	65	66					4																	89941646		2203	4300	6503	SO:0001587	stop_gained	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.392C>G	4.37:g.89941646G>C	ENSP00000264344:p.Ser131*		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S131*	ENST00000264344.5	37	c.392	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411262	0.62399	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	.	.	.	4.22	3.37	0.38596	.	0.573302	0.17148	N	0.185194	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6811	0.56922	0.0817:0.0:0.9183:0.0	.	.	.	.	X	131	.	.	S	-	2	0	FAM13A	90160669	0.943000	0.32029	0.002000	0.10522	0.013000	0.08279	6.074000	0.71253	1.342000	0.45619	0.650000	0.86243	TCA	FAM13A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.517	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	G			89941646	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	nonsense	SNP	0.017	C	C	89941646	G	C	89941646	4	2	58	1	0	0	0	0	0	1	0	0	5467	1294	45	1	2800	1	FAM13A	4	89941646	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1629563	89941646	101212630	352	8102										
TIGD2	166815	genome.wustl.edu	37	chr4	90035089	90035089	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgccaccaaatgtcacaagtCtgattcaaccaatgagccag	7	12	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:90035089C>G	ENST00000317005.2	+	1	1122	c.964C>G	c.(964-966)Ctg>Gtg	p.L322V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	322	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L322V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		tgtcacaagtctgattcaacc	0.408																																																	1	Substitution - Missense(1)	cervix(1)											44	44	44					4																	90035089		2202	4299	6501	SO:0001583	missense	166815			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.964C>G	4.37:g.90035089C>G	ENSP00000317170:p.Leu322Val			Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L322V	ENST00000317005.2	37	c.964	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916152	0.33815	.	.	ENSG00000180346	ENST00000317005	T	0.44482	0.92	4.49	2.72	0.32119	.	0.000000	0.33515	N	0.004834	T	0.38585	0.1046	L	0.42245	1.32	0.27160	N	0.961196	P	0.52842	0.956	P	0.52109	0.69	T	0.13845	-1.0494	10	0.19147	T	0.46	-3.1452	6.5503	0.22429	0.0:0.6992:0.0:0.3008	.	322	Q4W5G0	TIGD2_HUMAN	V	322	ENSP00000317170:L322V	ENSP00000317170:L322V	L	+	1	2	TIGD2	90254112	0.990000	0.36364	0.989000	0.46669	0.901000	0.52897	0.839000	0.27586	1.118000	0.41863	-0.262000	0.10625	CTG	TIGD2	-	pfam_DDE_SF_endonuclease_CENPB-like		0.408	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2	C	NM_145715		90035089	1	no_errors	ENST00000317005	ensembl	human	known	70_37	missense	SNP	0.986	G	G	90035089	C	G	90035089	3	3	58	1	0	0	0	0	1	0	0	0	15926	912	32	1	966	1	TIGD2	4	90035089	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	93443	90035089	101119187	353	8103										
SMARCAD1	56916	genome.wustl.edu	37	chr4	95174009	95174009	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgaggactatagtagtggtGaagaagtgatggaggatggc	17	2	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:95174009G>A	ENST00000354268.4	+	9	1205	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E378K|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	378					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E378K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TAGTAGTGGTGAAGAAGTGAT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											94	91	92					4																	95174009		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1132G>A	4.37:g.95174009G>A	ENSP00000346217:p.Glu378Lys		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E378K	ENST00000354268.4	37	c.1132	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771950	0.49680	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.88046	-2.33;-2.33;-2.33	5.58	5.58	0.84498	.	0.124595	0.36101	N	0.002797	D	0.83252	0.5214	L	0.43152	1.355	0.80722	D	1	B;B	0.21225	0.031;0.053	B;B	0.18561	0.01;0.022	T	0.77970	-0.2387	10	0.14656	T	0.56	-25.8018	19.5837	0.95482	0.0:0.0:1.0:0.0	.	378;378	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	K	378	ENSP00000351947:E378K;ENSP00000415576:E378K;ENSP00000346217:E378K	ENSP00000346217:E378K	E	+	1	0	SMARCAD1	95393032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.676000	0.61627	2.630000	0.89119	0.655000	0.94253	GAA	SMARCAD1	-	NULL		0.353	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	G	NM_020159		95174009	1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95174009	G	A	95174009	3	1	58	1	0	0	0	0	1	0	0	0	14802	1291	45	1	1162	1	SMARCAD1	4	95174009	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5138920	95174009	95980267	354	8104										
HPGDS	27306	genome.wustl.edu	37	chr4	95223384	95223384	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttatacgtgagcagctcattGaacatctgctcctaggagaa	9	9	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:95223384G>A	ENST00000295256.5	-	5	438	c.348C>T	c.(346-348)ttC>ttT	p.F116F	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	116	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)	p.F116F(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	GCAGCTCATTGAACATCTGCT	0.383																																					Colon(86;1802 1843 17863 46794)												1	Substitution - coding silent(1)	cervix(1)											125	126	125					4																	95223384		2203	4300	6503	SO:0001819	synonymous_variant	27306			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.348C>T	4.37:g.95223384G>A			Q6FHT9	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.F116	ENST00000295256.5	37	c.348	CCDS3640.1	4																																																																																			HPGDS	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.383	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	G	NM_014485		95223384	-1	no_errors	ENST00000295256	ensembl	human	known	70_37	silent	SNP	0.387	A	A	95223384	G	A	95223384	2	1	58	1	0	0	0	0	0	0	0	1	7355	1281	45	1		1	HPGDS	4	95223384	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	49375	95223384	95930892	355	8105										
BMPR1B	658	genome.wustl.edu	37	chr4	96070069	96070069	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggttgctaggagatgtgtatCaggaggtaagaaacagtgct	15	4	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:96070069C>G	ENST00000515059.1	+	11	1530	c.1247C>G	c.(1246-1248)tCa>tGa	p.S416*	BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.S416*|BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.S416*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.S446*	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	416	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.S416*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGATGTGTATCAGGAGGTAAG	0.393																																																	2	Substitution - Nonsense(2)	cervix(2)											156	143	147					4																	96070069		2203	4300	6503	SO:0001587	stop_gained	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1247C>G	4.37:g.96070069C>G	ENSP00000426617:p.Ser416*		B2R953|B4DSV1|P78366	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.S446*	ENST00000515059.1	37	c.1337	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.023103	0.97211	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	.	.	.	5.65	5.65	0.86999	.	0.064498	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	416;416;416;446;416;416	.	ENSP00000264568:S416X	S	+	2	0	BMPR1B	96289092	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	4.666000	0.61554	2.941000	0.99782	0.655000	0.94253	TCA	BMPR1B	-	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		0.393	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	C	NM_001203		96070069	1	no_errors	ENST00000440890	ensembl	human	known	70_37	nonsense	SNP	0.996	G	G	96070069	C	G	96070069	4	3	58	1	0	0	0	0	0	1	0	0	1471	838	29	1	1277	1	BMPR1B	4	96070069	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	846685	96070069	95084207	356	8106										
ADH4	127	genome.wustl.edu	37	chr4	100047767	100047767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttttccttggttcattaggtCaaatgcctcactgattttgt	7	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:100047767C>G	ENST00000265512.7	-	8	1170	c.1096G>C	c.(1096-1098)Gac>Cac	p.D366H	ADH4_ENST00000423445.1_Missense_Mutation_p.D385H|ADH4_ENST00000508393.1_Missense_Mutation_p.D385H|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.D385H	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	366					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.D366H(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTCATTAGGTCAAATGCCTCA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											142	140	141					4																	100047767		2203	4300	6503	SO:0001583	missense	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1096G>C	4.37:g.100047767C>G	ENSP00000265512:p.Asp366His		A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.D385H	ENST00000265512.7	37	c.1153	CCDS34032.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136098	0.77662	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.03745	3.82;3.82;3.82;3.82	4.75	4.75	0.60458	GroES-like (1);	0.196190	0.32593	U	0.005894	T	0.08670	0.0215	L	0.50993	1.605	0.80722	D	1	B;P	0.52061	0.275;0.95	B;P	0.48677	0.095;0.586	T	0.09574	-1.0668	10	0.49607	T	0.09	-5.8502	17.9392	0.89022	0.0:1.0:0.0:0.0	.	385;366	P08319-2;P08319	.;ADH4_HUMAN	H	385;366;385;385	ENSP00000424630:D385H;ENSP00000265512:D366H;ENSP00000397939:D385H;ENSP00000425416:D385H	ENSP00000265512:D366H	D	-	1	0	ADH4	100266790	1.000000	0.71417	0.497000	0.27552	0.834000	0.47266	3.490000	0.53245	2.473000	0.83533	0.655000	0.94253	GAC	ADH4	-	superfamily_GroES-like,smart_PKS_ER		0.348	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	C	NM_000670		100047767	-1	no_errors	ENST00000423445	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100047767	C	G	100047767	3	3	58	1	0	0	0	0	1	0	0	0	310	826	29	1	54	1	ADH4	4	100047767	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3977698	100047767	91106509	357	8107										
MTTP	4547	genome.wustl.edu	37	chr4	100542386	100542386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacaaggatgaagctccattCaggtaagatgcagcgttcag	12	8	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:100542386C>T	ENST00000265517.5	+	17	2714	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.F864F|MTTP_ENST00000457717.1_Silent_p.F837F			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	837					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.F837F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AAGCTCCATTCAGGTAAGATG	0.438																																																	1	Substitution - coding silent(1)	cervix(1)											155	142	146					4																	100542386		2203	4300	6503	SO:0001819	synonymous_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2511C>T	4.37:g.100542386C>T			A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.F837	ENST00000265517.5	37	c.2511	CCDS3651.1	4																																																																																			MTTP	-	NULL		0.438	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	C			100542386	1	no_errors	ENST00000265517	ensembl	human	known	70_37	silent	SNP	0.998	T	T	100542386	C	T	100542386	2	4	58	1	0	0	0	0	0	0	0	1	9987	825	29	1		1	MTTP	4	100542386	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	494619	100542386	90611890	358	8108										
MANBA	4126	genome.wustl.edu	37	chr4	103579009	103579009	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaggcttctgcaacagtttCagccccatttgtaggactgg	10	12	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:103579009C>T	ENST00000226578.4	-	12	1633	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MANBA_ENST00000505239.1_Missense_Mutation_p.E455K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	512					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.E512K(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GCAACAGTTTCAGCCCCATTT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											80	82	81					4																	103579009		2203	4300	6503	SO:0001583	missense	4126				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1534G>A	4.37:g.103579009C>T	ENSP00000226578:p.Glu512Lys		Q96BC3|Q9NYX9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.E512K	ENST00000226578.4	37	c.1534	CCDS3658.1	4	.	.	.	.	.	.	.	.	.	.	C	4.567	0.105267	0.08731	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.78246	-1.16;-1.16	5.32	-4.27	0.03744	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.270142	0.40554	N	0.001079	T	0.53658	0.1810	N	0.21545	0.675	0.29794	N	0.832988	B;B	0.22480	0.07;0.004	B;B	0.20955	0.032;0.02	T	0.48779	-0.9005	10	0.11485	T	0.65	-16.0977	7.6419	0.28298	0.0:0.4579:0.1052:0.4369	.	455;512	E9PFW2;O00462	.;MANBA_HUMAN	K	512;455	ENSP00000226578:E512K;ENSP00000427322:E455K	ENSP00000226578:E512K	E	-	1	0	MANBA	103798057	0.397000	0.25270	0.000000	0.03702	0.311000	0.27955	0.991000	0.29654	-1.571000	0.01663	-0.142000	0.14014	GAA	MANBA	-	superfamily_Glycoside_hydrolase_SF		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	C			103579009	-1	no_errors	ENST00000226578	ensembl	human	known	70_37	missense	SNP	0.218	T	T	103579009	C	T	103579009	3	4	58	1	0	0	0	0	1	0	0	0	9242	835	29	1	1129	1	MANBA	4	103579009	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3036623	103579009	87575267	359	8109										
MANBA	4126	genome.wustl.edu	37	chr4	103610745	103610745	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttaccttagctgatttttCaatatttaagcctccatcca	3	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:103610745C>A	ENST00000226578.4	-	7	1045	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.E259*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	316					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.E316*(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GCTGATTTTTCAATATTTAAG	0.303																																																	1	Substitution - Nonsense(1)	cervix(1)											77	79	78					4																	103610745		2203	4300	6503	SO:0001587	stop_gained	4126				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.946G>T	4.37:g.103610745C>A	ENSP00000226578:p.Glu316*		Q96BC3|Q9NYX9	Nonsense_Mutation	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.E316*	ENST00000226578.4	37	c.946	CCDS3658.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.412317	0.96072	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	.	.	.	4.94	2.3	0.28687	.	0.334578	0.35096	N	0.003452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-6.1688	7.9761	0.30155	0.0:0.6809:0.0:0.3191	.	.	.	.	X	316;259	.	ENSP00000226578:E316X	E	-	1	0	MANBA	103829793	0.995000	0.38212	0.239000	0.24122	0.841000	0.47740	0.225000	0.17757	0.370000	0.24538	0.655000	0.94253	GAA	MANBA	-	superfamily_Glyco_hydro_2_Ig-like		0.303	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	C			103610745	-1	no_errors	ENST00000226578	ensembl	human	known	70_37	nonsense	SNP	0.763	A	A	103610745	C	A	103610745	4	1	58	1	0	0	0	0	0	1	0	0	9242	835	29	3	1737	3	MANBA	4	103610745	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	31736	103610745	87543531	360	8110										
OSTC	58505	genome.wustl.edu	37	chr4	109578771	109578771	+	Frame_Shift_Del	DEL	C	C	-													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtgtcctattgagttttttCatggctagagtattcatgag							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:109578771delC	ENST00000361564.4	+	3	471	c.399delC	c.(397-399)ttcfs	p.F133fs	OSTC_ENST00000512478.2_Frame_Shift_Del_p.F133fs	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	133					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGAGTTTTTTCATGGCTAGAG	0.363																																																	0													64	61	62					4																	109578771		2203	4300	6503	SO:0001589	frameshift_variant	58505			AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"DC2 protein"		"oligosaccharyltransferase complex subunit"			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.399delC	4.37:g.109578771delC	ENSP00000354676:p.Phe133fs		A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Frame_Shift_Del	DEL	pfam_OligosaccharylTrfase_OST3/OST6	p.F133fs	ENST00000361564.4	37	c.399	CCDS3681.1	4																																																																																			OSTC	-	pfam_OligosaccharylTrfase_OST3/OST6		0.363	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTC	HGNC	protein_coding	OTTHUMT00000363485.1	C	NM_021227		109578771	1	no_errors	ENST00000361564	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	109578771	C	-	109578771	7	5	58	1	0	1	0	1	0	0	0	0	11320	825	29	0	409	0	OSTC	4	109578771	Frame_Shift_Del	DEL	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5968026	109578771	81575505	361	8111										
C4orf21	55345	genome.wustl.edu	37	chr4	113482022	113482022	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttaacttgtgtacctgaatCaactcactagctaacttcaa	4	10	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:113482022C>T	ENST00000505019.1	-	19	4952	c.4827G>A	c.(4825-4827)ttG>ttA	p.L1609L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1609						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L1609L(1)		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)		GTACCTGAATCAACTCACTAG	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											170	152	158					4																	113482022		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.4827G>A	4.37:g.113482022C>T			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L1609	ENST00000505019.1	37	c.4827		4																																																																																			C4orf21	-	NULL		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113482022	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.044	T	T	113482022	C	T	113482022	2	4	58	1	0	0	0	0	0	0	0	1	2259	825	29	1		1	C4orf21	4	113482022	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3903251	113482022	77672254	362	8112										
ANK2	287	genome.wustl.edu	37	chr4	114163301	114163301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctgcatgtggcttccaaaaGaggaaatacaaacatggtga	10	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:114163301G>C	ENST00000357077.4	+	9	880	c.827G>C	c.(826-828)aGa>aCa	p.R276T	ANK2_ENST00000506722.1_Missense_Mutation_p.R255T|ANK2_ENST00000264366.6_Missense_Mutation_p.R276T|ANK2_ENST00000394537.3_Missense_Mutation_p.R276T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	276					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R276T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCTTCCAAAAGAGGAAATACA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											179	162	168					4																	114163301		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.827G>C	4.37:g.114163301G>C	ENSP00000349588:p.Arg276Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R276T	ENST00000357077.4	37	c.827	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705930	0.89018	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.39	5.39	0.77823	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000024	T	0.74989	0.3789	L	0.46741	1.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.991	D;D;D;D;D	0.91635	0.999;0.987;0.999;0.996;0.988	T	0.72574	-0.4252	10	0.40728	T	0.16	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	276;276;276;255;255	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	T	255;255;255;291;276;276;276;255	ENSP00000423799:R255T;ENSP00000421011:R255T;ENSP00000421067:R255T;ENSP00000424722:R291T;ENSP00000378044:R276T;ENSP00000349588:R276T;ENSP00000264366:R276T	ENSP00000264366:R276T	R	+	2	0	ANK2	114382750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.702000	0.92279	0.591000	0.81541	AGA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114163301	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114163301	G	C	114163301	3	2	58	1	0	0	0	0	1	0	0	0	621	942	33	1	886	1	ANK2	4	114163301	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	681279	114163301	76990975	363	8113										
NDST3	9348	genome.wustl.edu	37	chr4	119161697	119161697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcatcagcgatcacatgaaGaccctgcagctctgaagttt	9	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:119161697G>C	ENST00000296499.5	+	11	2540	c.2137G>C	c.(2137-2139)Gac>Cac	p.D713H		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	713	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D713H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATCACATGAAGACCCTGCAGC	0.453																																																	1	Substitution - Missense(1)	cervix(1)											68	65	66					4																	119161697		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2137G>C	4.37:g.119161697G>C	ENSP00000296499:p.Asp713His		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.D713H	ENST00000296499.5	37	c.2137	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200824	0.58234	.	.	ENSG00000164100	ENST00000296499	D	0.82619	-1.63	5.73	4.89	0.63831	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90175	0.4238	10	0.59425	D	0.04	.	15.0058	0.71510	0.0683:0.0:0.9317:0.0	.	713	O95803	NDST3_HUMAN	H	713	ENSP00000296499:D713H	ENSP00000296499:D713H	D	+	1	0	NDST3	119381145	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.472000	0.80996	1.559000	0.49555	0.655000	0.94253	GAC	NDST3	-	pfam_Sulfotransferase_dom		0.453	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	G	NM_004784		119161697	1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119161697	G	C	119161697	3	2	58	1	0	0	0	0	1	0	0	0	10281	942	33	1	2175	1	NDST3	4	119161697	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4998396	119161697	71992579	364	8114										
EXOSC9	5393	genome.wustl.edu	37	chr4	122735121	122735121	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actctgagaaggaagatgatGaaggcggtggtgatcaagct	15	5	2	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:122735121G>A	ENST00000243498.5	+	10	1183	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.E359K|EXOSC9_ENST00000512454.1_Missense_Mutation_p.E343K	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	359					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E359K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GGAAGATGATGAAGGCGGTGG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											160	159	159					4																	122735121		2203	4300	6503	SO:0001583	missense	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1075G>A	4.37:g.122735121G>A	ENSP00000243498:p.Glu359Lys		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.E359K	ENST00000243498.5	37	c.1075	CCDS3722.2	4	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475703	0.84640	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.26810	1.71;1.74;1.71	5.49	4.65	0.58169	.	0.348822	0.34291	N	0.004087	T	0.22360	0.0539	L	0.40543	1.245	0.38656	D	0.951951	B;P;B	0.52463	0.051;0.953;0.433	B;P;B	0.45195	0.016;0.473;0.11	T	0.06481	-1.0824	10	0.15066	T	0.55	-30.4547	11.2924	0.49258	0.1456:0.0:0.8544:0.0	.	343;359;359	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	K	359;359;343	ENSP00000243498:E359K;ENSP00000368984:E359K;ENSP00000425782:E343K	ENSP00000243498:E359K	E	+	1	0	EXOSC9	122954571	1.000000	0.71417	0.941000	0.38009	0.945000	0.59286	4.493000	0.60341	1.336000	0.45506	0.551000	0.68910	GAA	EXOSC9	-	NULL		0.453	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	G	NM_005033		122735121	1	no_errors	ENST00000379663	ensembl	human	known	70_37	missense	SNP	0.990	A	A	122735121	G	A	122735121	3	1	58	1	0	0	0	0	1	0	0	0	5333	1291	45	1	1113	1	EXOSC9	4	122735121	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3573424	122735121	68419155	365	8115										
FGF2	2247	genome.wustl.edu	37	chr4	123748407	123748407	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccttcccgcccggccacttCaaggaccccaagcggctgta	10	18	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:123748407C>G	ENST00000608478.1	+	1	422	c.78C>G	c.(76-78)ttC>ttG	p.F26L	FGF2_ENST00000264498.3_Missense_Mutation_p.F159L|AC021205.1_ENST00000517260.1_RNA			P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	159					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.F159L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	CCGGCCACTTCAAGGACCCCA	0.711																																																	1	Substitution - Missense(1)	cervix(1)											12	15	14					4																	123748407		1720	3702	5422	SO:0001583	missense	2247			J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"Endogenous ligands"	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000608478.1:c.78C>G	4.37:g.123748407C>G	ENSP00000477134:p.Phe26Leu		A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.F159L	ENST00000608478.1	37	c.477		4	.	.	.	.	.	.	.	.	.	.	c	19.24	3.789122	0.70337	.	.	ENSG00000138685	ENST00000264498	T	0.74002	-0.8	3.36	1.57	0.23409	.	.	.	.	.	T	0.64394	0.2594	L	0.36672	1.1	0.40466	D	0.980294	B	0.22746	0.074	B	0.35607	0.206	T	0.61019	-0.7147	8	0.41790	T	0.15	.	3.5845	0.07966	0.173:0.5236:0.0:0.3033	.	159	P09038	FGF2_HUMAN	L	159	ENSP00000264498:F159L	ENSP00000264498:F159L	F	+	3	2	FGF2	123967857	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	2.236000	0.43052	0.085000	0.17107	-0.494000	0.04653	TTC	FGF2	-	superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.711	FGF2-002	KNOWN	basic|appris_principal	protein_coding	FGF2	HGNC	protein_coding	OTTHUMT00000472102.1	C	NM_002006		123748407	1	no_errors	ENST00000264498	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123748407	C	G	123748407	3	3	58	1	0	0	0	0	1	0	0	0	5866	825	29	1	479	1	FGF2	4	123748407	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1013286	123748407	67405869	366	8116										
PLK4	10733	genome.wustl.edu	37	chr4	128811391	128811391	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagaaaaccaaaaaggctgtGgtatgtctgttatcttctta	8	7	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:128811391G>C	ENST00000270861.5	+	7	2104	c.1830G>C	c.(1828-1830)gtG>gtC	p.V610V	PLK4_ENST00000514379.1_Splice_Site_p.V569V|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Splice_Site_p.V532V|PLK4_ENST00000513090.1_Splice_Site_p.V578V|PLK4_ENST00000507249.1_Splice_Site_p.V576V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	610					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V610V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAAAGGCTGTGGTATGTCTGT	0.348																																					Colon(135;508 1718 19061 31832 42879)												1	Substitution - coding silent(1)	cervix(1)											49	48	49					4																	128811391		2203	4300	6503	SO:0001630	splice_region_variant	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1830+1G>C	4.37:g.128811391G>C			B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.V610	ENST00000270861.5	37	c.1830	CCDS3735.1	4																																																																																			PLK4	-	NULL		0.348	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	G		Silent	128811391	1	no_errors	ENST00000270861	ensembl	human	known	70_37	silent	SNP	1.000	C	C	128811391	G	C	128811391	5	2	58	1	0	0	0	0	0	0	1	0	12122	1362	47	4	1856	4	PLK4	4	128811391	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5062984	128811391	62342885	367	8117										
MFSD8	256471	genome.wustl.edu	37	chr4	128842679	128842679	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtcagggtacctggcttacCtgaggttttggtcctagaat	12	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:128842679C>T	ENST00000296468.3	-	12	1477	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Splice_Site_p.Q405Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	450					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q450Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CCTGGCTTACCTGAGGTTTTG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											56	62	60					4																	128842679		2203	4300	6503	SO:0001630	splice_region_variant	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1350+1G>A	4.37:g.128842679C>T			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q450	ENST00000296468.3	37	c.1350	CCDS3736.1	4																																																																																			MFSD8	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.378	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	C	NM_152778	Silent	128842679	-1	no_errors	ENST00000296468	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128842679	C	T	128842679	5	4	58	1	0	0	0	0	0	0	1	0	9561	695	24	4	214	4	MFSD8	4	128842679	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	31288	128842679	62311597	368	8118										
TTC29	83894	genome.wustl.edu	37	chr4	147830196	147830196	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctttcctctcagcgtcctCagccctggtcaggtaatggt	9	14	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:147830196C>G	ENST00000325106.4	-	5	608	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TTC29_ENST00000398886.4_Missense_Mutation_p.E154Q|TTC29_ENST00000513335.1_Missense_Mutation_p.E154Q	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	128								p.E128Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAGCGTCCTCAGCCCTGGTC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											107	108	108					4																	147830196		1975	4160	6135	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.382G>C	4.37:g.147830196C>G	ENSP00000316740:p.Glu128Gln		A4GU95|Q9BXB6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E154Q	ENST00000325106.4	37	c.460	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136265	0.77662	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.78801	2.425	0.37505	D	0.916935	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.54603	-0.8269	10	0.66056	D	0.02	-20.6676	18.7522	0.91820	0.0:1.0:0.0:0.0	.	128;154;128	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	Q	154;154;128;128;128	ENSP00000423505:E154Q;ENSP00000381861:E154Q;ENSP00000316740:E128Q;ENSP00000425778:E128Q	ENSP00000316740:E128Q	E	-	1	0	TTC29	148049646	0.995000	0.38212	0.299000	0.25016	0.296000	0.27459	3.413000	0.52686	2.489000	0.83994	0.655000	0.94253	GAG	TTC29	-	NULL		0.562	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		C	NM_031956		147830196	-1	no_errors	ENST00000398886	ensembl	human	known	70_37	missense	SNP	0.967	G	G	147830196	C	G	147830196	3	3	58	1	0	0	0	0	1	0	0	0	16727	835	29	1	1081	1	TTC29	4	147830196	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	18987517	147830196	43324080	369	8119										
KIAA0922	23240	genome.wustl.edu	37	chr4	154533509	154533509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagattcacaaaacatctaGagaagacatgttttctgaga	8	6	3	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:154533509G>A	ENST00000409663.3	+	26	3573	c.3521G>A	c.(3520-3522)aGa>aAa	p.R1174K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1175K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1091K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1174						integral component of membrane (GO:0016021)		p.R1027K(1)|p.R1175K(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAAACATCTAGAGAAGACATG	0.343																																																	2	Substitution - Missense(2)	cervix(2)											72	73	73					4																	154533509		2203	4299	6502	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3521G>A	4.37:g.154533509G>A	ENSP00000386574:p.Arg1174Lys		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.R1175K	ENST00000409663.3	37	c.3524	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.668897	0.03403	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.14144	2.79;2.54;2.79;2.53	5.48	1.69	0.24217	.	0.714243	0.14465	N	0.317941	T	0.02970	0.0088	N	0.00926	-1.1	0.23156	N	0.998206	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.43572	-0.9383	10	0.02654	T	1	-7.1364	4.7494	0.13054	0.6523:0.1657:0.1821:0.0	.	1091;1175;1174	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	1174;1091;1175;952	ENSP00000386574:R1174K;ENSP00000409663:R1091K;ENSP00000386787:R1175K;ENSP00000240487:R952K	ENSP00000240487:R952K	R	+	2	0	KIAA0922	154752959	1.000000	0.71417	0.743000	0.31040	0.832000	0.47134	2.451000	0.44952	0.055000	0.16094	-0.391000	0.06502	AGA	KIAA0922	-	NULL		0.343	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	G	NM_015196		154533509	1	no_errors	ENST00000409959	ensembl	human	known	70_37	missense	SNP	0.966	A	A	154533509	G	A	154533509	3	1	58	1	0	0	0	0	1	0	0	0	8221	942	33	1	3626	1	KIAA0922	4	154533509	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6703313	154533509	36620767	370	8120										
FGA	2243	genome.wustl.edu	37	chr4	155505632	155505632	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacttggagggcatagccttCagcctcagagcctacccgga	12	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:155505632C>G	ENST00000302053.3	-	6	2323	c.2245G>C	c.(2245-2247)Gaa>Caa	p.E749Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	749	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.E749Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCATAGCCTTCAGCCTCAGAG	0.517																																					NSCLC(143;340 1922 20892 22370 48145)												1	Substitution - Missense(1)	cervix(1)											134	130	132					4																	155505632		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2245G>C	4.37:g.155505632C>G	ENSP00000306361:p.Glu749Gln		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E749Q	ENST00000302053.3	37	c.2245	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070539	0.20147	.	.	ENSG00000171560	ENST00000302053	D	0.97303	-4.33	5.7	4.87	0.63330	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.045523	0.85682	D	0.000000	D	0.95127	0.8421	L	0.52266	1.64	0.80722	D	1	B	0.21147	0.052	B	0.20955	0.032	D	0.92778	0.6238	10	0.45353	T	0.12	.	14.9049	0.70711	0.0:0.9312:0.0:0.0688	.	749	P02671	FIBA_HUMAN	Q	749	ENSP00000306361:E749Q	ENSP00000306361:E749Q	E	-	1	0	FGA	155725082	0.991000	0.36638	0.040000	0.18447	0.042000	0.13812	2.946000	0.49050	1.418000	0.47098	-0.143000	0.13931	GAA	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505632	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	0.993	G	G	155505632	C	G	155505632	3	3	58	1	0	0	0	0	1	0	0	0	5848	835	29	1	359	1	FGA	4	155505632	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	972123	155505632	35648644	371	8121										
FSTL5	56884	genome.wustl.edu	37	chr4	162680668	162680668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagagatccttgccaagttCttcctgttttatcacctaac	5	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:162680668C>T	ENST00000306100.5	-	6	1058	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FSTL5_ENST00000379164.4_Missense_Mutation_p.E207K|FSTL5_ENST00000536695.1_Missense_Mutation_p.E207K|FSTL5_ENST00000427802.2_Missense_Mutation_p.E207K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	208	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E208K(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGCCAAGTTCTTCCTGTTTT	0.274																																																	1	Substitution - Missense(1)	cervix(1)											83	90	88					4																	162680668		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.622G>A	4.37:g.162680668C>T	ENSP00000305334:p.Glu208Lys		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.E208K	ENST00000306100.5	37	c.622	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534244	0.45073	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.51	4.67	0.58626	EF-hand-like domain (1);	0.216967	0.47093	N	0.000248	T	0.11965	0.0291	N	0.19112	0.55	0.36709	D	0.880566	P;B;B	0.47106	0.89;0.077;0.012	B;B;B	0.38378	0.272;0.012;0.008	T	0.14615	-1.0466	10	0.11182	T	0.66	.	13.373	0.60723	0.0:0.9241:0.0:0.0758	.	207;207;208	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	208;207;207;207	ENSP00000305334:E208K;ENSP00000368462:E207K;ENSP00000389270:E207K;ENSP00000440409:E207K	ENSP00000305334:E208K	E	-	1	0	FSTL5	162900118	1.000000	0.71417	0.172000	0.22920	0.477000	0.33069	5.677000	0.68142	1.335000	0.45486	0.579000	0.79373	GAA	FSTL5	-	pfscan_EF_HAND_2		0.274	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162680668	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	0.984	T	T	162680668	C	T	162680668	3	4	58	1	0	0	0	0	1	0	0	0	6098	922	32	1	1965	1	FSTL5	4	162680668	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7175036	162680668	28473608	372	8122										
NPY1R	4886	genome.wustl.edu	37	chr4	164246583	164246583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtttcataatcatcatcccGagaccggaaatcacaaaagt	6	10	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:164246583G>A	ENST00000296533.2	-	3	1558	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NPY1R_ENST00000509586.1_Missense_Mutation_p.R100W	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R343W(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											138	145	142					4																	164246583		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1027C>T	4.37:g.164246583G>A	ENSP00000354652:p.Arg343Trp		B2R6H5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R343W	ENST00000296533.2	37	c.1027	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877161	0.51801	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.38722	1.12;1.12	5.48	5.48	0.80851	.	0.258733	0.30859	N	0.008736	T	0.53384	0.1793	L	0.42245	1.32	0.46954	D	0.999269	D	0.89917	1.0	D	0.64144	0.922	T	0.54490	-0.8286	10	0.72032	D	0.01	.	12.9417	0.58348	0.0:0.0:0.7166:0.2834	.	343	P25929	NPY1R_HUMAN	W	343;100	ENSP00000354652:R343W;ENSP00000427284:R100W	ENSP00000354652:R343W	R	-	1	2	NPY1R	164466033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.430000	0.44766	2.565000	0.86533	0.655000	0.94253	CGG	NPY1R	-	prints_NPY1_rcpt		0.393	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	G			164246583	-1	no_errors	ENST00000296533	ensembl	human	known	70_37	missense	SNP	0.998	A	A	164246583	G	A	164246583	3	1	58	1	0	0	0	0	1	0	0	0	10632	1057	37	1	131	1	NPY1R	4	164246583	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1565915	164246583	26907693	373	8123										
AADAT	51166	genome.wustl.edu	37	chr4	170991780	170991780	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taaggatcatcttctattatGaggaaatcatattttcttgc	6	6	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:170991780G>A	ENST00000337664.4	-	6	954	c.678C>T	c.(676-678)ctC>ctT	p.L226L	AADAT_ENST00000515480.1_Silent_p.L226L|AADAT_ENST00000353187.2_Silent_p.L226L|AADAT_ENST00000509167.1_Silent_p.L230L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	226					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.L226L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CTTCTATTATGAGGAAATCAT	0.254																																																	1	Substitution - coding silent(1)	cervix(1)											62	68	66					4																	170991780		2199	4290	6489	SO:0001819	synonymous_variant	51166			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.678C>T	4.37:g.170991780G>A			B3KP84|Q9UL02	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L230	ENST00000337664.4	37	c.690	CCDS3814.1	4																																																																																			AADAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.254	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	G	NM_016228		170991780	-1	no_errors	ENST00000509167	ensembl	human	known	70_37	silent	SNP	1.000	A	A	170991780	G	A	170991780	2	1	58	1	0	0	0	0	0	0	0	1	14	1277	45	1		1	AADAT	4	170991780	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6745197	170991780	20162496	374	8124										
WDR17	116966	genome.wustl.edu	37	chr4	177052785	177052785	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccccaactttaacacagaatCaagcattttctcttcctcct	2	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:177052785C>G	ENST00000280190.4	+	8	1222	c.1066C>G	c.(1066-1068)Caa>Gaa	p.Q356E	WDR17_ENST00000393643.2_Missense_Mutation_p.Q332E|WDR17_ENST00000507824.2_Missense_Mutation_p.Q339E|WDR17_ENST00000508596.1_Missense_Mutation_p.Q332E			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	356								p.Q356E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AACACAGAATCAAGCATTTTC	0.388																																																	1	Substitution - Missense(1)	cervix(1)											280	271	274					4																	177052785		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1066C>G	4.37:g.177052785C>G	ENSP00000280190:p.Gln356Glu		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q356E	ENST00000280190.4	37	c.1066	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.232|3.232	-0.157274|-0.157274	0.06544|0.06544	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.56275	.|0.5;0.52;0.47	5.45|5.45	5.45|5.45	0.79879|0.79879	.|WD40 repeat-like-containing domain (1);	.|0.125201	.|0.56097	.|D	.|0.000032	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.49483|0.49483	D|D	0.999793|0.999793	.|P;P	.|0.39665	.|0.682;0.682	.|B;B	.|0.30316	.|0.114;0.114	T|T	0.27434|0.27434	-1.0074|-1.0074	5|10	.|0.07482	.|T	.|0.82	-17.5444|-17.5444	19.6593|19.6593	0.95859|0.95859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|332;356	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	M|E	104|332;332;356;339	.|ENSP00000422763:Q332E;ENSP00000377258:Q332E;ENSP00000280190:Q356E	.|ENSP00000280190:Q356E	I|Q	+|+	3|1	3|0	WDR17|WDR17	177289779|177289779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.264000|0.264000	0.26372|0.26372	5.524000|5.524000	0.67105|0.67105	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	ATC|CAA	WDR17	-	superfamily_WD40_repeat_dom		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177052785	1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	G	G	177052785	C	G	177052785	3	3	58	1	0	0	0	0	1	0	0	0	17308	827	29	1	1092	1	WDR17	4	177052785	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6061005	177052785	14101491	375	8125										
VEGFC	7424	genome.wustl.edu	37	chr4	177713327	177713327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgcagacctaccgtggcctCgcccgcgtcgggctccgcgt	13	18	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:177713327C>T	ENST00000280193.2	-	1	554	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	47					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E47K(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACCGTGGCCTCGCCCGCGTCG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											18	22	21					4																	177713327		1871	4086	5957	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.139G>A	4.37:g.177713327C>T	ENSP00000280193:p.Glu47Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E47K	ENST00000280193.2	37	c.139	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778191	0.70107	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.3	4.3	0.51218	.	0.089559	0.43110	D	0.000613	T	0.41465	0.1160	L	0.57536	1.79	0.38599	D	0.950621	D	0.53745	0.962	B	0.36719	0.231	T	0.48198	-0.9056	9	0.09843	T	0.71	-12.749	13.4717	0.61285	0.0:1.0:0.0:0.0	.	47	P49767	VEGFC_HUMAN	K	47	.	ENSP00000280193:E47K	E	-	1	0	VEGFC	177950321	0.959000	0.32827	0.997000	0.53966	0.347000	0.29111	2.139000	0.42149	1.938000	0.56188	0.305000	0.20034	GAG	VEGFC	-	NULL		0.721	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	C	NM_005429		177713327	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	0.963	T	T	177713327	C	T	177713327	3	4	58	1	0	0	0	0	1	0	0	0	17183	893	31	1	1151	1	VEGFC	4	177713327	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	660542	177713327	13440949	376	8126										
ODZ3	55714	genome.wustl.edu	37	chr4	183664378	183664378	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atctcccagcagcctccagtCgtgagtagcatcatgggcaa	10	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:183664378C>T	ENST00000511685.1	+	19	3558	c.3435C>T	c.(3433-3435)gtC>gtT	p.V1145V	TENM3_ENST00000406950.2_Silent_p.V1145V|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1145					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V1145V(2)									AGCCTCCAGTCGTGAGTAGCA	0.483																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											68	69	68					4																	183664378		2006	4184	6190	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3435C>T	4.37:g.183664378C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1145	ENST00000511685.1	37	c.3435	CCDS47165.1	4																																																																																			TENM3	-	NULL		0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	C			183664378	1	no_errors	ENST00000406950	ensembl	human	known	70_37	silent	SNP	0.000	T	T	183664378	C	T	183664378	2	4	58	1	0	0	0	0	0	0	0	1	10860	871	31	1		1	ODZ3	4	183664378	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5951051	183664378	7489898	377	8127										
IRF2	3660	genome.wustl.edu	37	chr4	185340682	185340682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttccacatcccacccatgtCtagccgcatgcatccagggg	8	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:185340682C>G	ENST00000393593.3	-	3	335	c.128G>C	c.(127-129)aGa>aCa	p.R43T	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	43					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R43T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCACCCATGTCTAGCCGCATG	0.428																																																	1	Substitution - Missense(1)	cervix(1)											118	118	118					4																	185340682		2203	4300	6503	SO:0001583	missense	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.128G>C	4.37:g.185340682C>G	ENSP00000377218:p.Arg43Thr		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.R43T	ENST00000393593.3	37	c.128	CCDS3835.1	4	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328406	0.41197	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87	4.99	4.99	0.66335	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	10	0.87932	D	0	-19.0434	18.4742	0.90786	0.0:1.0:0.0:0.0	.	43	P14316	IRF2_HUMAN	T	43	ENSP00000377218:R43T;ENSP00000427204:R43T;ENSP00000424552:R43T;ENSP00000422860:R43T	ENSP00000377218:R43T	R	-	2	0	IRF2	185577676	1.000000	0.71417	0.903000	0.35520	0.979000	0.70002	4.821000	0.62679	2.581000	0.87130	0.655000	0.94253	AGA	IRF2	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom		0.428	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2	HGNC	protein_coding	OTTHUMT00000361393.1	C			185340682	-1	no_errors	ENST00000393593	ensembl	human	known	70_37	missense	SNP	0.991	G	G	185340682	C	G	185340682	3	3	58	1	0	0	0	0	1	0	0	0	7848	913	32	1	949	1	IRF2	4	185340682	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1676304	185340682	5813594	378	8128										
ZFP42	132625	genome.wustl.edu	37	chr4	188923976	188923976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaaacatgagccagcaactGaagaaacgggcaaagacaag	11	8	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:188923976G>A	ENST00000326866.4	+	4	423	c.15G>A	c.(13-15)ctG>ctA	p.L5L	ZFP42_ENST00000509524.1_Silent_p.L5L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	5					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L5L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCCAGCAACTGAAGAAACGGG	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											67	73	71					4																	188923976		2203	4300	6503	SO:0001819	synonymous_variant	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.15G>A	4.37:g.188923976G>A			D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L5	ENST00000326866.4	37	c.15	CCDS3849.1	4																																																																																			ZFP42	-	NULL		0.542	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	G	NM_174900		188923976	1	no_errors	ENST00000326866	ensembl	human	known	70_37	silent	SNP	0.179	A	A	188923976	G	A	188923976	2	1	58	1	0	0	0	0	0	0	0	1	17680	1277	45	1		1	ZFP42	4	188923976	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3583294	188923976	2230300	379	8129										
PLEKHG4B	153478	genome.wustl.edu	37	chr5	143604	143605	+	Missense_Mutation	DNP	CC	CC	TT													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acccgcctgctgctgtacttCcatagcatccccaggtggga							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:143604_143605CC>TT	ENST00000283426.6	+	3	779_780	c.729_730CC>TT	c.(727-732)ttCCat>ttTTat	p.H244Y	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	244							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F243F(1)|p.H244Y(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGCTGTACTTCCATAGCATCCC	0.663																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)																																								SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	Exception_encountered	5.37:g.143604_143605delinsTT	ENSP00000283426:p.His244Tyr			Silent|Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F243|p.H244Y	ENST00000283426.6	37	c.729|c.730	CCDS34124.1	5																																																																																			PLEKHG4B	-	superfamily_CRAL-TRIO_dom		0.663	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	C	NM_052909		143604|143605	1	no_errors	ENST00000283426	ensembl	human	known	70_37	silent|missense	SNP	0.985|0.871	T	TT	143605	CC	TT	143604	3	4	58	1	0	0	0	0	1	0	0	0	12096	854	30	1	739	1	PLEKHG4B	5	143604	Missense_Mutation	DNP	CC	TCGA-DR-A0ZM-01A-12D-A10S-08		143604	180771656	380	8130										
EXOC3	11336	genome.wustl.edu	37	chr5	446437	446437	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcaggagagaagcgcggaaGaaggcctccgtggaggccag	18	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:446437G>A	ENST00000512944.1	+	2	306	c.117G>A	c.(115-117)aaG>aaA	p.K39K	EXOC3_ENST00000315013.5_Silent_p.K39K|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	50					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.K39K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGCGCGGAAGAAGGCCTCCG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											38	44	42					5																	446437		2008	4170	6178	SO:0001819	synonymous_variant	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.117G>A	5.37:g.446437G>A			Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	pfam_Sec6	p.K39	ENST00000512944.1	37	c.117	CCDS54830.1	5																																																																																			EXOC3	-	NULL		0.597	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	G	NM_007277		446437	1	no_errors	ENST00000315013	ensembl	human	known	70_37	silent	SNP	0.980	A	A	446437	G	A	446437	2	1	58	1	0	0	0	0	0	0	0	1	5315	933	33	1		1	EXOC3	5	446437	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	302833	446437	180468823	381	8131										
KIAA0947	23379	genome.wustl.edu	37	chr5	5457444	5457444	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacttttgttcccccacataGaaaaacctgccaaagcaatc	4	13	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:5457444G>C	ENST00000296564.7	+	12	913		c.e12-1			NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN							positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCCCACATAGAAAAACCTGC	0.418																																																	2	Unknown(2)	cervix(2)											34	33	33					5																	5457444		1935	4147	6082	SO:0001630	splice_region_variant	23379																														ENST00000296564.7:c.692-1G>C	5.37:g.5457444G>C			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Splice_Site	SNP	-	e12-1	ENST00000296564.7	37	c.692-1	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264667	0.23136	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.129	0.65240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0947	5510444	1.000000	0.71417	0.901000	0.35422	0.095000	0.18619	2.532000	0.45659	2.405000	0.81733	0.555000	0.69702	.	KIAA0947	-	-		0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G		Intron	5457444	1	no_errors	ENST00000296564	ensembl	human	known	70_37	splice_site	SNP	0.999	C	C	5457444	G	C	5457444	5	2	58	1	0	0	0	0	0	0	1	0	8222	956	33	1	737	1	KIAA0947	5	5457444	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5011007	5457444	175457816	382	8132										
ADCY2	108	genome.wustl.edu	37	chr5	7802390	7802390	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgcctccattccggatttCaaagaattttatacagaatc	5	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:7802390C>T	ENST00000338316.4	+	21	2777	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ADCY2_ENST00000537121.1_Silent_p.F716F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	896					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F896F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCCGGATTTCAAAGAATTTT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											79	79	79					5																	7802390		2203	4300	6503	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2688C>T	5.37:g.7802390C>T			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F896	ENST00000338316.4	37	c.2688	CCDS3872.2	5																																																																																			ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7802390	1	no_errors	ENST00000338316	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7802390	C	T	7802390	2	4	58	1	0	0	0	0	0	0	0	1	294	825	29	1		1	ADCY2	5	7802390	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2344946	7802390	173112870	383	8133										
DNAH5	1767	genome.wustl.edu	37	chr5	13830290	13830290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcaatacggttaaattcatCaaaacaaccccaggatccag	5	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:13830290C>T	ENST00000265104.4	-	37	6198	c.6094G>A	c.(6094-6096)Gat>Aat	p.D2032N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2032	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2032N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAATTCATCAAAACAACCC	0.343									Kartagener syndrome																																								1	Substitution - Missense(1)	cervix(1)											77	77	77					5																	13830290		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6094G>A	5.37:g.13830290C>T	ENSP00000265104:p.Asp2032Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D2032N	ENST00000265104.4	37	c.6094	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947510	0.92593	.	.	ENSG00000039139	ENST00000265104	T	0.74947	-0.89	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93275	0.6655	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2032	Q8TE73	DYH5_HUMAN	N	2032	ENSP00000265104:D2032N	ENSP00000265104:D2032N	D	-	1	0	DNAH5	13883290	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT	DNAH5	-	smart_AAA+_ATPase		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369		13830290	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13830290	C	T	13830290	3	4	58	1	0	0	0	0	1	0	0	0	4614	826	29	1	7952	1	DNAH5	5	13830290	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6027900	13830290	167084970	384	8134										
DNAH5	1767	genome.wustl.edu	37	chr5	13916485	13916485	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acagagatgtgatcttctcaGaggtattatagtaatgagag	11	4	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:13916485G>C	ENST00000265104.4	-	9	1273	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	390	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S390C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTTCTCAGAGGTATTATA	0.308									Kartagener syndrome																																								1	Substitution - Missense(1)	cervix(1)											80	82	82					5																	13916485		2201	4291	6492	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1169C>G	5.37:g.13916485G>C	ENSP00000265104:p.Ser390Cys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S390C	ENST00000265104.4	37	c.1169	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333495	0.81801	.	.	ENSG00000039139	ENST00000265104	T	0.57907	0.37	5.04	5.04	0.67666	Dynein heavy chain, domain-1 (1);	0.059310	0.64402	D	0.000002	T	0.78978	0.4369	M	0.90977	3.165	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.84169	0.0433	10	0.72032	D	0.01	.	18.7613	0.91853	0.0:0.0:1.0:0.0	.	390	Q8TE73	DYH5_HUMAN	C	390	ENSP00000265104:S390C	ENSP00000265104:S390C	S	-	2	0	DNAH5	13969485	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.584000	0.98220	2.492000	0.84095	0.650000	0.86243	TCT	DNAH5	-	pfam_Dynein_heavy_dom-1		0.308	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13916485	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13916485	G	C	13916485	3	2	58	1	0	0	0	0	1	0	0	0	4614	942	33	1	12989	1	DNAH5	5	13916485	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	86195	13916485	166998775	385	8135										
MYO10	4651	genome.wustl.edu	37	chr5	16701893	16701893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcacgggtcagttcagcttCcttctggctcttctgcaagg	10	12	6	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:16701893C>T	ENST00000513610.1	-	25	3065	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Missense_Mutation_p.E210K|MYO10_ENST00000427430.2_Missense_Mutation_p.E228K|MYO10_ENST00000274203.9_Missense_Mutation_p.E228K|MYO10_ENST00000515803.1_Missense_Mutation_p.E210K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	871					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.E871K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTTCAGCTTCCTTCTGGCTC	0.488																																																	1	Substitution - Missense(1)	cervix(1)											52	51	52					5																	16701893		1943	4155	6098	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2611G>A	5.37:g.16701893C>T	ENSP00000421280:p.Glu871Lys		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.E871K	ENST00000513610.1	37	c.2611	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859095	0.32884	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.54	4.54	0.55810	.	.	.	.	.	T	0.36082	0.0954	L	0.40543	1.245	0.49130	D	0.999755	B;B	0.20780	0.048;0.0	B;B	0.20767	0.031;0.001	T	0.25950	-1.0117	9	0.62326	D	0.03	.	13.1171	0.59305	0.0:0.8392:0.1607:0.0	.	512;871	Q69YP8;Q9HD67	.;MYO10_HUMAN	K	871;210;228;210;228	ENSP00000421280:E871K;ENSP00000425051:E210K;ENSP00000274203:E228K;ENSP00000421170:E210K;ENSP00000391106:E228K	ENSP00000274203:E228K	E	-	1	0	MYO10	16754893	0.058000	0.20735	0.089000	0.20774	0.420000	0.31355	1.221000	0.32503	2.078000	0.62432	0.563000	0.77884	GAA	MYO10	-	NULL		0.488	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16701893	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	0.820	T	T	16701893	C	T	16701893	3	4	58	1	0	0	0	0	1	0	0	0	10085	864	30	1	3633	1	MYO10	5	16701893	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2785408	16701893	164213367	386	8136										
PDZD2	23037	genome.wustl.edu	37	chr5	32091059	32091059	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctctgcagcgaggattactCagcagggccgagcgccgtgc	15	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:32091059C>G	ENST00000438447.1	+	20	7893	c.7505C>G	c.(7504-7506)tCa>tGa	p.S2502*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2502*			O15018	PDZD2_HUMAN	PDZ domain containing 2	2502					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S2502*(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGATTACTCAGCAGGGCCG	0.637																																																	1	Substitution - Nonsense(1)	cervix(1)											57	56	56					5																	32091059		2203	4300	6503	SO:0001587	stop_gained	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7505C>G	5.37:g.32091059C>G	ENSP00000402033:p.Ser2502*		Q9BXD4	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S2502*	ENST00000438447.1	37	c.7505	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	49	15.627969	0.99840	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.32	3.52	0.40303	.	1.050670	0.07514	N	0.909474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.3664	0.38228	0.0:0.7746:0.1444:0.081	.	.	.	.	X	2502;2303;2502	.	ENSP00000282493:S2502X	S	+	2	0	PDZD2	32126816	0.012000	0.17670	0.002000	0.10522	0.625000	0.37756	2.592000	0.46171	0.604000	0.29930	0.561000	0.74099	TCA	PDZD2	-	NULL		0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			32091059	1	no_errors	ENST00000282493	ensembl	human	known	70_37	nonsense	SNP	0.031	G	G	32091059	C	G	32091059	4	3	58	1	0	0	0	0	0	1	0	0	11725	838	29	1	7579	1	PDZD2	5	32091059	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	15389166	32091059	148824201	387	8137										
RICTOR	253260	genome.wustl.edu	37	chr5	38957801	38957801	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacataacctctttcattcaGataggaaaatccttttggaa	5	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:38957801G>C	ENST00000357387.3	-	25	2482	c.2452C>G	c.(2452-2454)Ctg>Gtg	p.L818V	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.L818V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.L818V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTTCATTCAGATAGGAAAAT	0.303																																																	1	Substitution - Missense(1)	cervix(1)											93	99	97					5																	38957801		2202	4297	6499	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2452C>G	5.37:g.38957801G>C	ENSP00000349959:p.Leu818Val			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L818V	ENST00000357387.3	37	c.2452	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687728	0.68157	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.53640	0.61;0.61	5.43	2.6	0.31112	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.82056	2.57	0.52501	D	0.999951	D;D	0.76494	0.999;0.996	D;D	0.77557	0.99;0.986	T	0.66304	-0.5957	10	0.87932	D	0	-5.8609	8.265	0.31808	0.3078:0.0:0.6922:0.0	.	818;818	Q6R327;Q6R327-3	RICTR_HUMAN;.	V	818	ENSP00000349959:L818V;ENSP00000296782:L818V	ENSP00000296782:L818V	L	-	1	2	RICTOR	38993558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	0.738000	0.32606	0.591000	0.81541	CTG	RICTOR	-	superfamily_ARM-type_fold		0.303	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38957801	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38957801	G	C	38957801	3	2	58	1	0	0	0	0	1	0	0	0	13388	933	33	1	2730	1	RICTOR	5	38957801	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6866742	38957801	141957459	388	8138										
HMGCS1	3157	genome.wustl.edu	37	chr5	43294235	43294235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cataagaaaacactccaattCtcttccctgctaattgctga	4	12	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:43294235C>G	ENST00000325110.6	-	8	1312	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.R369T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	369					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.R369T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CACTCCAATTCTCTTCCCTGC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											152	130	137					5																	43294235		2203	4300	6503	SO:0001583	missense	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.1106G>C	5.37:g.43294235C>G	ENSP00000322706:p.Arg369Thr		B2RDL8	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.R369T	ENST00000325110.6	37	c.1106	CCDS34154.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633126	0.87660	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.79940	-1.32;-1.32	5.58	3.8	0.43715	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.038503	0.85682	D	0.000000	D	0.88829	0.6543	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88434	0.3037	10	0.54805	T	0.06	-16.3316	12.1174	0.53873	0.0:0.8611:0.0:0.1389	.	369	Q01581	HMCS1_HUMAN	T	369;369;358	ENSP00000322706:R369T;ENSP00000399402:R369T	ENSP00000322706:R369T	R	-	2	0	HMGCS1	43329992	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.580000	0.67464	0.727000	0.32360	0.655000	0.94253	AGA	HMGCS1	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk		0.423	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	C			43294235	-1	no_errors	ENST00000325110	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43294235	C	G	43294235	3	3	58	1	0	0	0	0	1	0	0	0	7252	913	32	1	472	1	HMGCS1	5	43294235	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4336434	43294235	137621025	389	8139										
PELO	53918	genome.wustl.edu	37	chr5	52097658	52097658	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaccaagagggtgattccaGttctgaagaggattaatgat	12	5	1	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:52097658G>C	ENST00000274311.2	+	3	2127	c.1142G>C	c.(1141-1143)aGt>aCt	p.S381T	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	381					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.S381T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGATTCCAGTTCTGAAGAG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											44	47	46					5																	52097658		2203	4300	6503	SO:0001583	missense	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.1142G>C	5.37:g.52097658G>C	ENSP00000274311:p.Ser381Thr		Q9GZS6|Q9Y306	Missense_Mutation	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.S381T	ENST00000274311.2	37	c.1142	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252645	0.59212	.	.	ENSG00000152684	ENST00000274311	T	0.44083	0.93	5.86	5.86	0.93980	.	0.050431	0.85682	U	0.000000	T	0.62392	0.2424	M	0.66297	2.02	0.80722	D	1	P	0.43392	0.805	P	0.57776	0.827	T	0.55792	-0.8085	10	0.40728	T	0.16	-4.6466	19.798	0.96494	0.0:0.0:1.0:0.0	.	381	Q9BRX2	PELO_HUMAN	T	381	ENSP00000274311:S381T	ENSP00000274311:S381T	S	+	2	0	PELO	52133415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.765000	0.95021	0.655000	0.94253	AGT	PELO	-	NULL		0.448	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	G	NM_015946		52097658	1	no_errors	ENST00000274311	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52097658	G	C	52097658	3	2	58	1	0	0	0	0	1	0	0	0	11748	1029	36	4	1148	4	PELO	5	52097658	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8803423	52097658	128817602	390	8140										
DHX29	54505	genome.wustl.edu	37	chr5	54570469	54570469	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aataaaatcttctatcatttGatagaagatcatacaactgc	4	7	4	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:54570469G>C	ENST00000251636.5	-	16	2811	c.2663C>G	c.(2662-2664)tCa>tGa	p.S888*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	888	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.S888*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTATCATTTGATAGAAGATC	0.303																																																	1	Substitution - Nonsense(1)	cervix(1)											29	29	29					5																	54570469		2200	4283	6483	SO:0001587	stop_gained	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2663C>G	5.37:g.54570469G>C	ENSP00000251636:p.Ser888*		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S888*	ENST00000251636.5	37	c.2663	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.361035	0.98777	.	.	ENSG00000067248	ENST00000251636	.	.	.	4.99	4.99	0.66335	.	0.273778	0.36101	N	0.002784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	18.6257	0.91336	0.0:0.0:1.0:0.0	.	.	.	.	X	888	.	ENSP00000251636:S888X	S	-	2	0	DHX29	54606226	1.000000	0.71417	0.958000	0.39756	0.989000	0.77384	5.882000	0.69714	2.478000	0.83669	0.563000	0.77884	TCA	DHX29	-	smart_Helicase_C,pfscan_Helicase_C		0.303	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	G	NM_019030		54570469	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	nonsense	SNP	0.983	C	C	54570469	G	C	54570469	4	2	58	1	0	0	0	0	0	1	0	0	4513	1294	45	1	1494	1	DHX29	5	54570469	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2472811	54570469	126344791	391	8141										
HTR1A	3350	genome.wustl.edu	37	chr5	63256875	63256875	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgaccgtcttgcggatgcgGaagcgcgcagctcggaatat	14	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:63256875G>A	ENST00000323865.3	-	1	905	c.672C>T	c.(670-672)ttC>ttT	p.F224F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	224					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.F224F(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCGGATGCGGAAGCGCGCAG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											77	85	82					5																	63256875		2203	4300	6503	SO:0001819	synonymous_variant	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.672C>T	5.37:g.63256875G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.F224	ENST00000323865.3	37	c.672	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt		0.567	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63256875	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63256875	G	A	63256875	2	1	58	1	0	0	0	0	0	0	0	1	7456	1165	41	1		1	HTR1A	5	63256875	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8686406	63256875	117658385	392	8142										
HTR1A	3350	genome.wustl.edu	37	chr5	63257044	63257044	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcccagcatgggcgggataGagatgaggaagccaataagc	15	8	0	2	rs146873107		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:63257044G>A	ENST00000323865.3	-	1	736	c.503C>T	c.(502-504)tCt>tTt	p.S168F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	168					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S168F(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGCGGGATAGAGATGAGGAA	0.602																																																	1	Substitution - Missense(1)	cervix(1)						G	PHE/SER	0,4406		0,0,2203	88	104	99		503	5.7	1	5	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	no	missense	HTR1A	NM_000524.2	155	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	168/423	63257044	1,13003	2203	4299	6502	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.503C>T	5.37:g.63257044G>A	ENSP00000316244:p.Ser168Phe		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.S168F	ENST00000323865.3	37	c.503	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472527	0.84640	0.0	1.16E-4	ENSG00000178394	ENST00000323865	T	0.44881	0.91	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84334	0.0523	10	0.87932	D	0	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	168	P08908	5HT1A_HUMAN	F	168	ENSP00000316244:S168F	ENSP00000316244:S168F	S	-	2	0	HTR1A	63292800	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	TCT	HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257044	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63257044	G	A	63257044	3	1	58	1	0	0	0	0	1	0	0	0	7456	942	33	1	768	1	HTR1A	5	63257044	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	169	63257044	117658216	393	8143										
PPWD1	23398	genome.wustl.edu	37	chr5	64867770	64867770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aattttcatttatgatggccGaggagataaccagccacttc	8	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:64867770G>C	ENST00000261308.5	+	5	698	c.626G>C	c.(625-627)cGa>cCa	p.R209P	PPWD1_ENST00000538977.1_Missense_Mutation_p.R53P|PPWD1_ENST00000535264.1_Missense_Mutation_p.R179P	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	209					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R209P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TATGATGGCCGAGGAGATAAC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											94	101	98					5																	64867770		2203	4300	6503	SO:0001583	missense	23398			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.626G>C	5.37:g.64867770G>C	ENSP00000261308:p.Arg209Pro		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Cyclophilin-like_PPIase_dom	p.R209P	ENST00000261308.5	37	c.626	CCDS3985.1	5	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765774	0.90020	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.64991	-0.13;-0.13;4.87;-0.13	5.83	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.89414	3.03	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.62382	0.901;0.798	D	0.84108	0.0399	10	0.56958	D	0.05	.	15.0364	0.71751	0.0683:0.0:0.9317:0.0	.	179;209	F5H7P7;Q96BP3	.;PPWD1_HUMAN	P	209;179;53;128	ENSP00000261308:R209P;ENSP00000442371:R179P;ENSP00000444496:R53P;ENSP00000423234:R128P	ENSP00000261308:R209P	R	+	2	0	PPWD1	64903526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.791000	0.99081	1.470000	0.48102	0.491000	0.48974	CGA	PPWD1	-	superfamily_WD40_repeat_dom		0.423	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	HGNC	protein_coding	OTTHUMT00000253970.2	G	NM_015342		64867770	1	no_errors	ENST00000261308	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64867770	G	C	64867770	3	2	58	1	0	0	0	0	1	0	0	0	12441	1058	37	1	644	1	PPWD1	5	64867770	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1610726	64867770	116047490	394	8144										
MAST4	375449	genome.wustl.edu	37	chr5	66438035	66438035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagaatttattccccaactgGaatctgaggatgacacaagt	8	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:66438035G>C	ENST00000403625.2	+	20	2882	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q	MAST4_ENST00000261569.7_Missense_Mutation_p.E669Q|MAST4_ENST00000403666.1_Missense_Mutation_p.E674Q|MAST4_ENST00000404260.3_Missense_Mutation_p.E866Q|MAST4_ENST00000405643.1_Missense_Mutation_p.E684Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	866	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E866Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCCAACTGGAATCTGAGGA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											116	111	112					5																	66438035		1881	4099	5980	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2587G>C	5.37:g.66438035G>C	ENSP00000385727:p.Glu863Gln		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E866Q	ENST00000403625.2	37	c.2596	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994380	0.93167	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.42	5.42	0.78866	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.89715	3.055	0.53005	D	0.999966	P;D;D;P	0.89917	0.903;0.999;1.0;0.942	P;D;D;P	0.77557	0.766;0.96;0.99;0.882	T	0.68693	-0.5341	10	0.72032	D	0.01	-23.292	19.5705	0.95413	0.0:0.0:1.0:0.0	.	684;866;669;674	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	Q	866;863;674;684;684;669;669	ENSP00000385048:E866Q;ENSP00000385727:E863Q;ENSP00000384313:E674Q;ENSP00000384099:E684Q;ENSP00000261569:E669Q	ENSP00000261569:E669Q	E	+	1	0	MAST4	66473791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.715000	0.92844	0.655000	0.94253	GAA	MAST4	-	superfamily_Kinase-like_dom		0.378	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66438035	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66438035	G	C	66438035	3	2	58	1	0	0	0	0	1	0	0	0	9350	1175	41	1	2795	1	MAST4	5	66438035	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1570265	66438035	114477225	395	8145										
PIK3R1	5295	genome.wustl.edu	37	chr5	67591082	67591082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggcagctgagtatcgagaaAttgacaaacgtatgaacagc	11	7	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:67591082A>G	ENST00000521381.1	+	13	2291	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	PIK3R1_ENST00000523872.1_Missense_Mutation_p.I196V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.I559V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.I559V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.I559V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.I289V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.I259V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	559					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.I289V(1)|p.I559V(1)|p.R557_K561>Q(1)|p.I259V(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTATCGAGAAATTGACAAACG	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	6	Substitution - Missense(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	cervix(3)|large_intestine(1)|lung(1)|endometrium(1)											138	139	138					5																	67591082		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1675A>G	5.37:g.67591082A>G	ENSP00000428056:p.Ile559Val		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.I559V	ENST00000521381.1	37	c.1675	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396937	0.83120	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.76574	2.34	0.80722	D	1	B;B;B;B	0.33964	0.011;0.003;0.008;0.434	B;B;B;B	0.38020	0.007;0.027;0.015;0.263	T	0.34304	-0.9834	10	0.45353	T	0.12	-18.5226	15.2043	0.73165	1.0:0.0:0.0:0.0	.	229;289;259;559	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	V	559;559;559;559;259;289;196	ENSP00000428056:I559V;ENSP00000429277:I559V;ENSP00000379855:I559V;ENSP00000274335:I559V;ENSP00000323512:I259V;ENSP00000338554:I289V;ENSP00000430098:I196V	ENSP00000274335:I559V	I	+	1	0	PIK3R1	67626838	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.087000	0.94110	2.238000	0.73509	0.477000	0.44152	ATT	PIK3R1	-	prints_PI3kinase_P85		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	A	NM_181504		67591082	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67591082	A	G	67591082	3	3	58	1	0	0	0	0	1	0	0	0	11942	101	4	5	1851	5	PIK3R1	5	67591082	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	1153047	67591082	113324178	396	8146										
CCDC125	202243	genome.wustl.edu	37	chr5	68595899	68595899	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacatgttttcctgagccatCttctgctgtttgatatcaag	7	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:68595899C>G	ENST00000396496.2	-	8	863	c.756G>C	c.(754-756)aaG>aaC	p.K252N	CCDC125_ENST00000383374.2_Missense_Mutation_p.K251N|CCDC125_ENST00000511257.1_Missense_Mutation_p.K127N|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.K252N			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	252						cytoplasm (GO:0005737)		p.K252N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCTGAGCCATCTTCTGCTGTT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											281	253	263					5																	68595899		2203	4300	6503	SO:0001583	missense	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.756G>C	5.37:g.68595899C>G	ENSP00000379754:p.Lys252Asn		Q86Z19	Missense_Mutation	SNP	NULL	p.K252N	ENST00000396496.2	37	c.756	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200298	0.58126	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.66	4.66	0.58398	.	0.147785	0.64402	D	0.000013	T	0.58637	0.2136	M	0.70275	2.135	0.35345	D	0.786864	P;D	0.53462	0.943;0.96	P;P	0.50082	0.63;0.59	T	0.71397	-0.4605	10	0.54805	T	0.06	-8.0537	10.3961	0.44201	0.0:0.9069:0.0:0.0931	.	127;252	Q86Z20-2;Q86Z20	.;CC125_HUMAN	N	252;252;251;127	ENSP00000379754:K252N;ENSP00000379756:K252N;ENSP00000372865:K251N;ENSP00000426795:K127N	ENSP00000372865:K251N	K	-	3	2	CCDC125	68631655	0.552000	0.26505	0.996000	0.52242	0.984000	0.73092	0.750000	0.26334	2.320000	0.78422	0.591000	0.81541	AAG	CCDC125	-	NULL		0.443	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	C	NM_176816		68595899	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68595899	C	G	68595899	3	3	58	1	0	0	0	0	1	0	0	0	2766	912	32	1	799	1	CCDC125	5	68595899	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1004817	68595899	112319361	397	8147										
BDP1	55814	genome.wustl.edu	37	chr5	70837407	70837407	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcacctgtcattactacatCtcctgcatcatttgaagaaa	4	11	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:70837407C>G	ENST00000358731.4	+	29	6412	c.6149C>G	c.(6148-6150)tCt>tGt	p.S2050C	BDP1_ENST00000380675.2_Missense_Mutation_p.S186C	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2050					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S2050C(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTACTACATCTCCTGCATCA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											110	105	106					5																	70837407		1843	4087	5930	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6149C>G	5.37:g.70837407C>G	ENSP00000351575:p.Ser2050Cys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S2050C	ENST00000358731.4	37	c.6149	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917376	0.17982	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.53640	3.46;0.61	5.81	2.6	0.31112	.	0.636070	0.15108	N	0.280145	T	0.59473	0.2196	M	0.64997	1.995	0.09310	N	1	B;D	0.76494	0.056;0.999	B;D	0.69479	0.044;0.964	T	0.45687	-0.9244	10	0.72032	D	0.01	.	6.3063	0.21141	0.0:0.6568:0.1578:0.1854	.	2050;2050	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	C	2050;1598;186;186	ENSP00000351575:S2050C;ENSP00000370050:S186C	ENSP00000351575:S2050C	S	+	2	0	BDP1	70873163	0.000000	0.05858	0.004000	0.12327	0.052000	0.14988	0.362000	0.20284	0.791000	0.33826	-0.384000	0.06662	TCT	BDP1	-	NULL		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	C	NM_018429		70837407	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.000	G	G	70837407	C	G	70837407	3	3	58	1	0	0	0	0	1	0	0	0	1396	913	32	1	6263	1	BDP1	5	70837407	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2241508	70837407	110077853	398	8148										
MAP1B	4131	genome.wustl.edu	37	chr5	71494088	71494088	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaagtccaggacacccgttCaagatcacagatctgaacag	8	12	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:71494088C>T	ENST00000296755.7	+	5	5204	c.4906C>T	c.(4906-4908)Caa>Taa	p.Q1636*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1636					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.Q1636*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GACACCCGTTCAAGATCACAG	0.448																																					Melanoma(17;367 822 11631 31730 47712)												1	Substitution - Nonsense(1)	cervix(1)											106	111	109					5																	71494088		2203	4300	6503	SO:0001587	stop_gained	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4906C>T	5.37:g.71494088C>T	ENSP00000296755:p.Gln1636*		A2BDK5	Nonsense_Mutation	SNP	pfam_MAP1B_neuraxin	p.Q1636*	ENST00000296755.7	37	c.4906	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.926249	0.99618	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.19	5.19	0.71726	.	0.098954	0.45126	D	0.000400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-17.0432	18.7095	0.91651	0.0:1.0:0.0:0.0	.	.	.	.	X	1636	.	ENSP00000296755:Q1636X	Q	+	1	0	MAP1B	71529844	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.487000	0.81328	2.435000	0.82474	0.313000	0.20887	CAA	MAP1B	-	NULL		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71494088	1	no_errors	ENST00000296755	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	71494088	C	T	71494088	4	4	58	1	0	0	0	0	0	1	0	0	9251	827	29	1	4924	1	MAP1B	5	71494088	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	656681	71494088	109421172	399	8149										
FCHO2	115548	genome.wustl.edu	37	chr5	72311459	72311459	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatatgttacccagaaatttCaagatattgaagaaactcat	5	6	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:72311459C>G	ENST00000430046.2	+	7	723	c.607C>G	c.(607-609)Caa>Gaa	p.Q203E	FCHO2_ENST00000287761.6_Missense_Mutation_p.Q203E|FCHO2_ENST00000341845.6_Missense_Mutation_p.Q203E|FCHO2_ENST00000512348.1_Intron	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	203	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.Q203E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CCAGAAATTTCAAGATATTGA	0.303																																																	2	Substitution - Missense(2)	cervix(2)											61	60	60					5																	72311459		1790	4048	5838	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.607C>G	5.37:g.72311459C>G	ENSP00000393776:p.Gln203Glu		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH	p.Q203E	ENST00000430046.2	37	c.607	CCDS47230.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097734|4.097734	0.76870|0.76870	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000507345|ENST00000430046;ENST00000341845;ENST00000287761	.|T;T;T	.|0.57436	.|0.4;0.4;0.4	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.050969	.|0.85682	.|D	.|0.000000	T|T	0.71600|0.71600	0.3359|0.3359	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.277	.|D;B	.|0.68765	.|0.96;0.076	T|T	0.68368|0.68368	-0.5427|-0.5427	6|10	0.23302|0.34782	T|T	0.38|0.22	-12.472|-12.472	19.2851|19.2851	0.94067|0.94067	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203;203	.|Q0JRZ9-2;Q0JRZ9	.|.;FCHO2_HUMAN	L|E	172|203	.|ENSP00000393776:Q203E;ENSP00000344034:Q203E;ENSP00000287761:Q203E	ENSP00000426842:F172L|ENSP00000287761:Q203E	F|Q	+|+	3|1	2|0	FCHO2|FCHO2	72347215|72347215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.497000|4.497000	0.60367|0.60367	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	TTC|CAA	FCHO2	-	NULL		0.303	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	C	XM_291142		72311459	1	no_errors	ENST00000341845	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72311459	C	G	72311459	3	3	58	1	0	0	0	0	1	0	0	0	5806	827	29	1	633	1	FCHO2	5	72311459	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	817371	72311459	108603801	400	8150										
SV2C	22987	genome.wustl.edu	37	chr5	75581692	75581692	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtcagcctgagaaggtcttCacggtgagtcttctccccag	12	12	5	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:75581692C>T	ENST00000502798.2	+	6	1576	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	SV2C_ENST00000322285.7_Silent_p.F378F|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	378					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.F378F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGAAGGTCTTCACGGTGAGTC	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											68	74	72					5																	75581692		2025	4201	6226	SO:0001819	synonymous_variant	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1134C>T	5.37:g.75581692C>T			Q496K1|Q9UPU8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.F378	ENST00000502798.2	37	c.1134	CCDS43331.1	5																																																																																			SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.428	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	C			75581692	1	no_errors	ENST00000502798	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75581692	C	T	75581692	2	4	58	1	0	0	0	0	0	0	0	1	15449	825	29	1		1	SV2C	5	75581692	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3270233	75581692	105333568	401	8151										
IQGAP2	10788	genome.wustl.edu	37	chr5	75866443	75866443	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgacacacagataataccgtCcagtggttaagagcgatgga	11	9	0	2	rs544252052	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:75866443C>G	ENST00000274364.6	+	4	639	c.342C>G	c.(340-342)gtC>gtG	p.V114V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	114	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.V114V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAATACCGTCCAGTGGTTAA	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											175	164	168					5																	75866443		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.342C>G	5.37:g.75866443C>G			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.V114	ENST00000274364.6	37	c.342	CCDS34188.1	5																																																																																			IQGAP2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.453	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	C	NM_006633		75866443	1	no_errors	ENST00000274364	ensembl	human	known	70_37	silent	SNP	1.000	G	G	75866443	C	G	75866443	2	3	58	1	0	0	0	0	0	0	0	1	7835	842	30	1		1	IQGAP2	5	75866443	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	284751	75866443	105048817	402	8152										
CMYA5	202333	genome.wustl.edu	37	chr5	79027909	79027909	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acatctgtatctgaatatctCattttggcacagaagcagaa	7	8	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:79027909C>G	ENST00000446378.2	+	2	3352	c.3321C>G	c.(3319-3321)ctC>ctG	p.L1107L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1107					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.L1107L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGAATATCTCATTTTGGCAC	0.413																																																	2	Substitution - coding silent(2)	cervix(2)											81	76	77					5																	79027909		1868	4102	5970	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3321C>G	5.37:g.79027909C>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.L1107	ENST00000446378.2	37	c.3321	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79027909	1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.922	G	G	79027909	C	G	79027909	2	3	58	1	0	0	0	0	0	0	0	1	3595	813	29	1		1	CMYA5	5	79027909	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3161466	79027909	101887351	403	8153										
ZFYVE16	9765	genome.wustl.edu	37	chr5	79747465	79747465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaattcttatccagaagcttGagattccctgggcaaaggtt	10	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:79747465G>C	ENST00000338008.5	+	10	3724	c.3544G>C	c.(3544-3546)Gag>Cag	p.E1182Q	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.E1182Q|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.E1182Q	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1182					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.E1182Q(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCAGAAGCTTGAGATTCCCTG	0.348																																					Melanoma(150;1452 1854 16018 17851 37292)												1	Substitution - Missense(1)	cervix(1)											126	128	127					5																	79747465		2203	4300	6503	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3544G>C	5.37:g.79747465G>C	ENSP00000337159:p.Glu1182Gln		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E1182Q	ENST00000338008.5	37	c.3544	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006059	0.93287	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.73258	-0.73;-0.73;-0.73	5.7	5.7	0.88788	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000032	D	0.85526	0.5717	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86832	0.2011	10	0.87932	D	0	-16.3792	18.6024	0.91253	0.0:0.0:1.0:0.0	.	1182	Q7Z3T8	ZFY16_HUMAN	Q	1182	ENSP00000337159:E1182Q;ENSP00000423663:E1182Q;ENSP00000426848:E1182Q	ENSP00000337159:E1182Q	E	+	1	0	ZFYVE16	79783221	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.694000	0.98686	2.684000	0.91462	0.650000	0.86243	GAG	ZFYVE16	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.348	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	G	NM_014733		79747465	1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79747465	G	C	79747465	3	2	58	1	0	0	0	0	1	0	0	0	17694	1291	45	1	3578	1	ZFYVE16	5	79747465	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	719556	79747465	101167795	404	8154										
ACOT12	134526	genome.wustl.edu	37	chr5	80626308	80626308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggattttgaccagccaccaaGatttccagcaaagtaaggaa	9	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:80626308G>C	ENST00000307624.3	-	15	1601	c.1573C>G	c.(1573-1575)Ctt>Gtt	p.L525V	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	525	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.L525V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAGCCACCAAGATTTCCAGCA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											76	79	78					5																	80626308		2203	4300	6503	SO:0001583	missense	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1573C>G	5.37:g.80626308G>C	ENSP00000303246:p.Leu525Val		B3KVK9|Q5FWE9	Missense_Mutation	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd	p.L525V	ENST00000307624.3	37	c.1573	CCDS4055.1	5	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110486	0.20714	.	.	ENSG00000172497	ENST00000307624	T	0.14893	2.47	5.47	2.25	0.28309	.	0.220986	0.37530	N	0.002050	T	0.14787	0.0357	L	0.45698	1.435	0.80722	D	1	B	0.20164	0.042	B	0.25614	0.062	T	0.07121	-1.0789	10	0.15952	T	0.53	-4.4394	11.4949	0.50402	0.0:0.0:0.5817:0.4183	.	525	Q8WYK0	ACO12_HUMAN	V	525	ENSP00000303246:L525V	ENSP00000303246:L525V	L	-	1	0	ACOT12	80662064	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.654000	0.37334	0.686000	0.31488	0.561000	0.74099	CTT	ACOT12	-	NULL		0.363	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	G	NM_130767		80626308	-1	no_errors	ENST00000307624	ensembl	human	known	70_37	missense	SNP	0.997	C	C	80626308	G	C	80626308	3	2	58	1	0	0	0	0	1	0	0	0	150	942	33	1	98	1	ACOT12	5	80626308	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	878843	80626308	100288952	405	8155										
EDIL3	10085	genome.wustl.edu	37	chr5	83360566	83360566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcgcaaagtgcaatgtcttCgacaaacttggggatagagt	11	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:83360566C>T	ENST00000296591.5	-	8	1323	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.R292Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	302	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R302Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTCTTCGACAAACTTG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											122	119	120					5																	83360566		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.905G>A	5.37:g.83360566C>T	ENSP00000296591:p.Arg302Gln		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R302Q	ENST00000296591.5	37	c.905	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.234549	0.95207	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98876	-5.2;-5.2	5.51	5.51	0.81932	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	L	0.41415	1.275	0.80722	D	1	P;D;D	0.76494	0.818;0.998;0.999	B;P;D	0.70935	0.325;0.811;0.971	D	0.98953	1.0795	10	0.40728	T	0.16	-15.5569	19.7788	0.96409	0.0:1.0:0.0:0.0	.	79;292;302	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	Q	302;292	ENSP00000296591:R302Q;ENSP00000369483:R292Q	ENSP00000296591:R302Q	R	-	2	0	EDIL3	83396322	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.421000	0.80204	2.749000	0.94314	0.460000	0.39030	CGA	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.383	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	C	NM_005711		83360566	-1	no_errors	ENST00000296591	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83360566	C	T	83360566	3	4	58	1	0	0	0	0	1	0	0	0	4925	884	31	1	553	1	EDIL3	5	83360566	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2734258	83360566	97554694	406	8156										
GPR98	84059	genome.wustl.edu	37	chr5	89940684	89940684	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccatttactcccttccagatGaggtaaatattgcatataac	5	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:89940684G>A	ENST00000405460.2	+	15	2992	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	966	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E966K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTCCAGATGAGGTAAATAT	0.294																																																	1	Substitution - Missense(1)	cervix(1)											92	82	85					5																	89940684		1814	4075	5889	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2896G>A	5.37:g.89940684G>A	ENSP00000384582:p.Glu966Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E966K	ENST00000405460.2	37	c.2896	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948572	0.92593	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28255	1.62	5.51	5.51	0.81932	Na-Ca exchanger/integrin-beta4 (1);	0.046193	0.85682	D	0.000000	T	0.55513	0.1925	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	P	0.61533	0.89	T	0.57505	-0.7800	10	0.59425	D	0.04	.	19.4749	0.94983	0.0:0.0:1.0:0.0	.	966	Q8WXG9	GPR98_HUMAN	K	966	ENSP00000384582:E966K	ENSP00000296619:E966K	E	+	1	0	GPR98	89976440	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.464000	0.80887	2.605000	0.88082	0.454000	0.30748	GAG	GPR98	-	smart_Calx_beta		0.294	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89940684	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89940684	G	A	89940684	3	1	58	1	0	0	0	0	1	0	0	0	6741	1291	45	1	2954	1	GPR98	5	89940684	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6580118	89940684	90974576	407	8157										
STARD4	134429	genome.wustl.edu	37	chr5	110835787	110835787	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaattctggtctcttttcatCccagtcaagacttattccta	4	11	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:110835787C>G	ENST00000296632.3	-	6	549	c.415G>C	c.(415-417)Gat>Cat	p.D139H	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	139	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.D139H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTCTTTTCATCCCAGTCAAGA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											57	55	56					5																	110835787		2202	4300	6502	SO:0001583	missense	134429			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.415G>C	5.37:g.110835787C>G	ENSP00000296632:p.Asp139His		Q86TN9	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.D139H	ENST00000296632.3	37	c.415	CCDS4104.1	5	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693401	0.30052	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.48201	0.82;0.82	5.69	3.37	0.38596	Lipid-binding START (2);START-like domain (1);	0.498441	0.22806	N	0.055409	T	0.26268	0.0641	N	0.03608	-0.345	0.80722	D	1	B	0.27192	0.171	B	0.38842	0.283	T	0.07009	-1.0795	10	0.35671	T	0.21	-1.2754	4.6926	0.12788	0.0:0.4967:0.0:0.5033	.	139	Q96DR4	STAR4_HUMAN	H	139	ENSP00000296632:D139H;ENSP00000427478:D139H	ENSP00000296632:D139H	D	-	1	0	STARD4	110863686	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.348000	0.52209	1.003000	0.39130	-0.302000	0.09304	GAT	STARD4	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.333	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	C	NM_139164		110835787	-1	no_errors	ENST00000296632	ensembl	human	known	70_37	missense	SNP	0.996	G	G	110835787	C	G	110835787	3	3	58	1	0	0	0	0	1	0	0	0	15289	855	30	1	206	1	STARD4	5	110835787	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	20895103	110835787	70079473	408	8158										
SRP19	6728	genome.wustl.edu	37	chr5	112200184	112200184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcctacagctacagagattCaagatgtatgttcagcagtt	8	8	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:112200184C>G	ENST00000505459.1	+	3	303	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	CTC-487M23.8_ENST00000506997.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.Q50E|SRP19_ENST00000515463.1_Missense_Mutation_p.F24L|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	50					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)	p.Q50E(1)		breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TACAGAGATTCAAGATGTATG	0.343																																																	1	Substitution - Missense(1)	cervix(1)											171	164	167					5																	112200184		2202	4300	6502	SO:0001583	missense	6728				CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"signal recognition particle 19kD"			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.148C>G	5.37:g.112200184C>G	ENSP00000424870:p.Gln50Glu		B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19	p.Q50E	ENST00000505459.1	37	c.148	CCDS4108.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.74|16.74	3.207091|3.207091	0.58343|0.58343	.|.	.|.	ENSG00000153037|ENSG00000153037	ENST00000515463|ENST00000505459;ENST00000282999	.|T;T	.|0.41758	.|1.01;0.99	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.179487	.|0.52532	.|D	.|0.000079	T|T	0.32466|0.32466	0.0830|0.0830	.|.	.|.	.|.	0.24914|0.24914	N|N	0.992024|0.992024	.|P;B	.|0.43231	.|0.801;0.216	.|B;B	.|0.37451	.|0.25;0.143	T|T	0.23583|0.23583	-1.0184|-1.0184	5|9	0.87932|0.21014	D|T	0|0.42	0.0098|0.0098	18.3327|18.3327	0.90276|0.90276	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|50;50	.|P09132;Q05D77	.|SRP19_HUMAN;.	L|E	24|50	.|ENSP00000424870:Q50E;ENSP00000282999:Q50E	ENSP00000425562:F24L|ENSP00000282999:Q50E	F|Q	+|+	3|1	2|0	SRP19|SRP19	112228083|112228083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.688000|2.688000	0.46984|0.46984	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	TTC|CAA	SRP19	-	pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19		0.343	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP19	HGNC	protein_coding	OTTHUMT00000250737.3	C	NM_003135		112200184	1	no_errors	ENST00000505459	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112200184	C	G	112200184	3	3	58	1	0	0	0	0	1	0	0	0	15184	827	29	1	158	1	SRP19	5	112200184	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1364397	112200184	68715076	409	8159										
AP3S1	1176	genome.wustl.edu	37	chr5	115230837	115230837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatgtctgtgagctggatttGattttccatgtagacaaggt	11	5	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:115230837G>C	ENST00000316788.7	+	4	884	c.327G>C	c.(325-327)ttG>ttC	p.L109F	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	109					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.L109F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AGCTGGATTTGATTTTCCATG	0.269																																																	1	Substitution - Missense(1)	cervix(1)											53	55	55					5																	115230837		2200	4280	6480	SO:0001583	missense	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.327G>C	5.37:g.115230837G>C	ENSP00000325369:p.Leu109Phe		O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.L109F	ENST00000316788.7	37	c.327	CCDS4123.1	5	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389146	0.61956	.	.	ENSG00000177879	ENST00000316788	T	0.57595	0.39	4.75	0.944	0.19537	Longin-like (1);AP complex, mu/sigma subunit (1);	0.155671	0.45361	D	0.000375	T	0.79375	0.4435	H	0.98351	4.21	0.46823	D	0.999217	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.988	T	0.78173	-0.2307	10	0.87932	D	0	-19.4911	7.7939	0.29135	0.7223:0.0:0.2777:0.0	.	109;109;109	B2R4I8;Q92572;F5H459	.;AP3S1_HUMAN;.	F	109	ENSP00000325369:L109F	ENSP00000325369:L109F	L	+	3	2	AP3S1	115258736	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.272000	0.51616	-0.018000	0.14079	0.563000	0.77884	TTG	AP3S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.269	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2	G			115230837	1	no_errors	ENST00000316788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115230837	G	C	115230837	3	2	58	1	0	0	0	0	1	0	0	0	749	1281	45	1	341	1	AP3S1	5	115230837	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3030653	115230837	65684423	410	8160										
HSD17B4	3295	genome.wustl.edu	37	chr5	118824910	118824910	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgtggaagccctgaagccaGagtatgtggcacctcttgtc	12	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:118824910G>C	ENST00000256216.6	+	9	779	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.E76Q|HSD17B4_ENST00000510025.1_Missense_Mutation_p.E192Q|HSD17B4_ENST00000504811.1_Missense_Mutation_p.E241Q|HSD17B4_ENST00000513628.1_Missense_Mutation_p.E79Q|HSD17B4_ENST00000515320.1_Missense_Mutation_p.E198Q	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	216	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E216Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CCTGAAGCCAGAGTATGTGGC	0.358																																					Colon(35;490 801 34689 41394 43344)												1	Substitution - Missense(1)	cervix(1)											208	201	203					5																	118824910		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.646G>C	5.37:g.118824910G>C	ENSP00000256216:p.Glu216Gln		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E216Q	ENST00000256216.6	37	c.646	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530971	0.85706	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.231325	0.50627	D	0.000104	D	0.92954	0.7758	M	0.84773	2.715	0.80722	D	1	B;B;B;B	0.31009	0.036;0.264;0.135;0.303	B;B;B;B	0.24848	0.056;0.027;0.029;0.035	D	0.91413	0.5152	10	0.62326	D	0.03	-5.4848	20.0189	0.97489	0.0:0.0:1.0:0.0	.	241;198;192;216	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	Q	216;198;192;241;76;79	ENSP00000256216:E216Q;ENSP00000424613:E198Q;ENSP00000424940:E192Q;ENSP00000420914:E241Q;ENSP00000411960:E76Q;ENSP00000425993:E79Q	ENSP00000256216:E216Q	E	+	1	0	HSD17B4	118852809	1.000000	0.71417	0.213000	0.23690	0.790000	0.44656	9.643000	0.98464	2.834000	0.97654	0.650000	0.86243	GAG	HSD17B4	-	prints_Glc/ribitol_DH		0.358	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	G	NM_000414		118824910	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.995	C	C	118824910	G	C	118824910	3	2	58	1	0	0	0	0	1	0	0	0	7406	943	33	1	680	1	HSD17B4	5	118824910	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3594073	118824910	62090350	411	8161										
CEP120	153241	genome.wustl.edu	37	chr5	122734955	122734955	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agccacaatgtccctggggtCaagtccagccaggatggcag	13	12	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:122734955C>G	ENST00000306467.5	-	5	791	c.487G>C	c.(487-489)Gac>Cac	p.D163H	CEP120_ENST00000306481.6_Missense_Mutation_p.D137H|CEP120_ENST00000395431.2_Missense_Mutation_p.D163H|CEP120_ENST00000328236.5_Missense_Mutation_p.D163H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	163					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D163H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCCTGGGGTCAAGTCCAGCC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											81	82	81					5																	122734955		1964	4154	6118	SO:0001583	missense	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.487G>C	5.37:g.122734955C>G	ENSP00000303058:p.Asp163His		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D163H	ENST00000306467.5	37	c.487	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981553	0.74474	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.47869	2.15;2.15;2.15;0.83	5.75	4.88	0.63580	.	0.219344	0.41097	D	0.000955	T	0.65533	0.2700	M	0.61703	1.905	0.37229	D	0.905605	D	0.89917	1.0	D	0.74674	0.984	T	0.73448	-0.3979	10	0.72032	D	0.01	-14.7944	14.9339	0.70938	0.0:0.9315:0.0:0.0685	.	163	Q8N960	CE120_HUMAN	H	163;163;137;137;163	ENSP00000303058:D163H;ENSP00000327504:D163H;ENSP00000307419:D137H;ENSP00000421620:D137H	ENSP00000303058:D163H	D	-	1	0	CEP120	122762854	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	3.732000	0.55021	1.441000	0.47550	0.655000	0.94253	GAC	CEP120	-	NULL		0.398	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	C	NM_153223		122734955	-1	no_errors	ENST00000306467	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122734955	C	G	122734955	3	3	58	1	0	0	0	0	1	0	0	0	3251	826	29	1	2537	1	CEP120	5	122734955	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3910045	122734955	58180305	412	8162										
MEGF10	84466	genome.wustl.edu	37	chr5	126746176	126746176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgttaccacgtgagcggcgCatgcctctgtgaagcaggct	14	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:126746176C>A	ENST00000274473.6	+	10	1280	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	MEGF10_ENST00000508365.1_Missense_Mutation_p.A338E|MEGF10_ENST00000503335.2_Missense_Mutation_p.A338E|MEGF10_ENST00000418761.2_Missense_Mutation_p.A338E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	338	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.A338E(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTGAGCGGCGCATGCCTCTGT	0.597																																																	1	Substitution - Missense(1)	cervix(1)											119	99	106					5																	126746176		2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1013C>A	5.37:g.126746176C>A	ENSP00000274473:p.Ala338Glu		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.A338E	ENST00000274473.6	37	c.1013	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679247	0.29783	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.93	5.93	0.95920	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.504726	0.18719	N	0.133100	T	0.44329	0.1288	L	0.41906	1.305	0.20926	N	0.999824	B;P	0.44521	0.007;0.837	B;P	0.49597	0.038;0.616	T	0.28839	-1.0031	10	0.27082	T	0.32	-0.9989	20.3539	0.98825	0.0:1.0:0.0:0.0	.	338;338	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	E	338	ENSP00000423354:A338E;ENSP00000423195:A338E;ENSP00000416284:A338E;ENSP00000274473:A338E	ENSP00000274473:A338E	A	+	2	0	MEGF10	126774075	0.675000	0.27558	0.033000	0.17914	0.011000	0.07611	3.896000	0.56266	2.826000	0.97356	0.655000	0.94253	GCA	MEGF10	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom		0.597	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	C	NM_032446		126746176	1	no_errors	ENST00000274473	ensembl	human	known	70_37	missense	SNP	0.244	A	A	126746176	C	A	126746176	3	1	58	1	0	0	0	0	1	0	0	0	9483	710	25	4	1043	4	MEGF10	5	126746176	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4011221	126746176	54169084	413	8163										
GDF9	2661	genome.wustl.edu	37	chr5	132197395	132197395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatttggcaggtacacatgaCggtcttggcactgaggagtc	13	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:132197395C>T	ENST00000378673.2	-	3	2117	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	GDF9_ENST00000296875.2_Silent_p.P417P|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	417					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.P417P(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTACACATGACGGTCTTGGCA	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											139	113	122					5																	132197395		2203	4300	6503	SO:0001819	synonymous_variant	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1251G>A	5.37:g.132197395C>T			Q4VAW5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.P417	ENST00000378673.2	37	c.1251	CCDS4162.1	5																																																																																			GDF9	-	pfam_TGF-b_C,smart_TGF-b_C		0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	C	NM_005260		132197395	-1	no_errors	ENST00000296875	ensembl	human	known	70_37	silent	SNP	0.161	T	T	132197395	C	T	132197395	2	4	58	1	0	0	0	0	0	0	0	1	6338	523	19	2		2	GDF9	5	132197395	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5451219	132197395	48717865	414	8164										
PHF15	23338	genome.wustl.edu	37	chr5	133909370	133909370	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacatggtgacaaggcgcgaGagaacgaaacacgccatctg	12	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:133909370G>C	ENST00000282605.4	+	10	1556	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000361895.2_Missense_Mutation_p.E490D|PHF15_ENST00000395003.1_Missense_Mutation_p.E490D														p.E490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGGCGCGAGAGAACGAAAC	0.512																																																	1	Substitution - Missense(1)	cervix(1)											128	102	111					5																	133909370		2203	4300	6503	SO:0001583	missense	23338																														ENST00000282605.4:c.1470G>C	5.37:g.133909370G>C	ENSP00000282605:p.Glu490Asp			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E506D	ENST00000282605.4	37	c.1518		5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265534	0.59431	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.67865	-0.29;-0.07;-0.08	5.51	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.85777	2.775	0.53005	D	0.999962	P;P;P;D;P	0.89917	0.719;0.55;0.55;1.0;0.816	P;P;P;D;P	0.85130	0.488;0.571;0.571;0.997;0.571	T	0.79102	-0.1941	10	0.87932	D	0	.	8.9044	0.35515	0.3386:0.0:0.6614:0.0	.	490;490;490;490;506	B4DFY8;Q9NQC1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.	D	490;506;490;490;490;490	ENSP00000282605:E490D;ENSP00000354425:E490D;ENSP00000378451:E490D	ENSP00000282605:E490D	E	+	3	2	PHF15	133937269	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.116000	0.41930	0.166000	0.19597	0.561000	0.74099	GAG	PHF15	-	NULL		0.512	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1	G			133909370	1	no_errors	ENST00000448712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133909370	G	C	133909370	3	2	58	1	0	0	0	0	1	0	0	0	11850	933	33	1	1504	1	PHF15	5	133909370	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1711975	133909370	47005890	415	8165										
CAMLG	819	genome.wustl.edu	37	chr5	134086562	134086562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaaaatgggcgaagtcttCacagatctctgtgtctactt	9	9	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134086562C>T	ENST00000297156.2	+	4	933	c.813C>T	c.(811-813)ttC>ttT	p.F271F	CAMLG_ENST00000514518.1_3'UTR	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	271					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F271F(1)		NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GCGAAGTCTTCACAGATCTCT	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											171	168	169					5																	134086562		2203	4300	6503	SO:0001819	synonymous_variant	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"calcium-modulating cyclophilin ligand", "calcium-signal modulating cyclophilin ligand", "cyclophilin B-binding protein"	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.813C>T	5.37:g.134086562C>T			A1L3Y3	Silent	SNP	pirsf_Ca_signal-mod_cyclophilin_lig	p.F271	ENST00000297156.2	37	c.813	CCDS4178.1	5																																																																																			CAMLG	-	pirsf_Ca_signal-mod_cyclophilin_lig		0.408	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMLG	HGNC	protein_coding	OTTHUMT00000251161.1	C	NM_001745		134086562	1	no_errors	ENST00000297156	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134086562	C	T	134086562	2	4	58	1	0	0	0	0	0	0	0	1	2614	825	29	1		1	CAMLG	5	134086562	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	177192	134086562	46828698	416	8166										
DDX46	9879	genome.wustl.edu	37	chr5	134153216	134153216	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaggccaccaatgcaattCttaggggtggcaccattctg	11	11	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134153216C>T	ENST00000354283.4	+	20	2776	c.2641C>T	c.(2641-2643)Ctt>Ttt	p.L881F	DDX46_ENST00000452510.2_Missense_Mutation_p.L882F			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	881					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.L881F(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAATGCAATTCTTAGGGGTGG	0.443																																					Colon(13;391 453 4901 21675 24897)												1	Substitution - Missense(1)	cervix(1)											64	62	63					5																	134153216		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2641C>T	5.37:g.134153216C>T	ENSP00000346236:p.Leu881Phe		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L882F	ENST00000354283.4	37	c.2644	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232032	0.79688	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.62;1.6	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.68317	2.08	0.80722	D	1	P	0.34615	0.459	B	0.37387	0.248	T	0.21008	-1.0258	10	0.51188	T	0.08	-8.2869	14.3009	0.66352	0.0:0.9293:0.0:0.0707	.	881	Q7L014	DDX46_HUMAN	F	882;881	ENSP00000416534:L882F;ENSP00000346236:L881F	ENSP00000346236:L881F	L	+	1	0	DDX46	134181115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.923000	0.40055	2.744000	0.94065	0.655000	0.94253	CTT	DDX46	-	NULL		0.443	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	C	NM_014829		134153216	1	no_errors	ENST00000452510	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134153216	C	T	134153216	3	4	58	1	0	0	0	0	1	0	0	0	4369	913	32	1	2719	1	DDX46	5	134153216	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	66654	134153216	46762044	417	8167										
PITX1	5307	genome.wustl.edu	37	chr5	134364558	134364558	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgctgtttggacttgagccGcaggctggctaggctcgagt	16	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134364558G>T	ENST00000265340.7	-	3	1272	c.856C>A	c.(856-858)Cgg>Agg	p.R286R	PITX1_ENST00000506438.1_Silent_p.R286R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	286					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.R286R(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GACTTGAGCCGCAGGCTGGCT	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											33	34	34					5																	134364558		2200	4296	6496	SO:0001819	synonymous_variant	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.856C>A	5.37:g.134364558G>T			A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.R286	ENST00000265340.7	37	c.856	CCDS4182.1	5																																																																																			PITX1	-	pfam_OAR_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom		0.692	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	G			134364558	-1	no_errors	ENST00000265340	ensembl	human	known	70_37	silent	SNP	0.994	T	T	134364558	G	T	134364558	2	4	58	1	0	0	0	0	0	0	0	1	11978	1086	38	2		2	PITX1	5	134364558	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	211342	134364558	46550702	418	8168			1	37		3	3	206	G		4.029466e-05
PITX1	5307	genome.wustl.edu	37	chr5	134364608	134364608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccggtagacgctgtagggcGaggcgggagtgccgtacggg	20	10	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134364608G>C	ENST00000265340.7	-	3	1222	c.806C>G	c.(805-807)tCg>tGg	p.S269W	PITX1_ENST00000506438.1_Missense_Mutation_p.S269W	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	269	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.S269W(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCTGTAGGGCGAGGCGGGAGT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											49	48	48					5																	134364608		2203	4300	6503	SO:0001583	missense	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.806C>G	5.37:g.134364608G>C	ENSP00000265340:p.Ser269Trp		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.S269W	ENST00000265340.7	37	c.806	CCDS4182.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425801	0.83667	.	.	ENSG00000069011	ENST00000265340;ENST00000506438	D;D	0.91011	-2.77;-2.77	4.14	4.14	0.48551	.	0.187891	0.47455	D	0.000239	D	0.94066	0.8098	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94866	0.8026	10	0.87932	D	0	.	15.3899	0.74735	0.0:0.0:1.0:0.0	.	269	P78337	PITX1_HUMAN	W	269	ENSP00000265340:S269W;ENSP00000427542:S269W	ENSP00000265340:S269W	S	-	2	0	PITX1	134392507	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.617000	0.98361	1.859000	0.53934	0.462000	0.41574	TCG	PITX1	-	pirsf_Homeobox_Pitx/unc30		0.657	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	G			134364608	-1	no_errors	ENST00000265340	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134364608	G	C	134364608	3	2	58	1	0	0	0	0	1	0	0	0	11978	1059	37	1	142	1	PITX1	5	134364608	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	50	134364608	46550652	419	8169			1	37		3	3	206	G		4.029466e-05
PITX1	5307	genome.wustl.edu	37	chr5	134364763	134364763	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcatggaggagatggagctGggtgctgagaacatggactg	18	5	1	2	rs146204449	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134364763G>C	ENST00000265340.7	-	3	1067	c.651C>G	c.(649-651)ccC>ccG	p.P217P	PITX1_ENST00000506438.1_Silent_p.P217P	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	217	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.P217P(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGATGGAGCTGGGTGCTGAGA	0.637																																																	1	Substitution - coding silent(1)	cervix(1)						G		0,4406		0,0,2203	90	88	89		651	4.4	1	5	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	PITX1	NM_002653.4		0,6,6497	CC,CG,GG		0.0698,0.0,0.0461		217/315	134364763	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.651C>G	5.37:g.134364763G>C			A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.P217	ENST00000265340.7	37	c.651	CCDS4182.1	5																																																																																			PITX1	-	pirsf_Homeobox_Pitx/unc30		0.637	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	G			134364763	-1	no_errors	ENST00000265340	ensembl	human	known	70_37	silent	SNP	1.000	C	C	134364763	G	C	134364763	2	2	58	1	0	0	0	0	0	0	0	1	11978	1335	47	4		4	PITX1	5	134364763	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	155	134364763	46550497	420	8170			1	37		3	3	206	G		4.029466e-05
MYOT	9499	genome.wustl.edu	37	chr5	137219244	137219244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgttgccaagaatagagcaGgagaagccaccttcactgtg	12	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:137219244G>A	ENST00000239926.4	+	7	1362	c.988G>A	c.(988-990)Gga>Aga	p.G330R	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.G215R|MYOT_ENST00000421631.2_Missense_Mutation_p.G146R	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	330	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.G330R(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAATAGAGCAGGAGAAGCCAC	0.428																																																	1	Substitution - Missense(1)	cervix(1)											80	76	77					5																	137219244		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.988G>A	5.37:g.137219244G>A	ENSP00000239926:p.Gly330Arg		A0A4R6|B4DT79	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G330R	ENST00000239926.4	37	c.988	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.095293	0.94197	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	D;D;D	0.81739	-1.53;-1.53;-1.53	4.87	4.87	0.63330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.92747	0.7694	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94807	0.7975	10	0.87932	D	0	.	18.3893	0.90477	0.0:0.0:1.0:0.0	.	330	Q9UBF9	MYOTI_HUMAN	R	330;146;215	ENSP00000239926:G330R;ENSP00000391185:G146R;ENSP00000426281:G215R	ENSP00000239926:G330R	G	+	1	0	MYOT	137247143	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.387000	0.81309	0.655000	0.94253	GGA	MYOT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	G	NM_006790		137219244	1	no_errors	ENST00000239926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137219244	G	A	137219244	3	1	58	1	0	0	0	0	1	0	0	0	10117	1001	35	4	1010	4	MYOT	5	137219244	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2854481	137219244	43696016	421	8171										
KDM3B	51780	genome.wustl.edu	37	chr5	137754897	137754897	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggttggcagatttagcaactCagaaggctaaagaagaaaca	11	6	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:137754897C>T	ENST00000314358.5	+	14	3891	c.3691C>T	c.(3691-3693)Cag>Tag	p.Q1231*	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.Q887*|KDM3B_ENST00000542866.1_Nonsense_Mutation_p.Q263*	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1231					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.Q1231*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTAGCAACTCAGAAGGCTAA	0.483																																																	1	Substitution - Nonsense(1)	cervix(1)											57	60	59					5																	137754897		2203	4300	6503	SO:0001587	stop_gained	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3691C>T	5.37:g.137754897C>T	ENSP00000326563:p.Gln1231*		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q1231*	ENST00000314358.5	37	c.3691	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	40	7.926990	0.98565	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.3089	19.679	0.95950	0.0:1.0:0.0:0.0	.	.	.	.	X	1231;1021;887;263	.	ENSP00000326563:Q1231X	Q	+	1	0	KDM3B	137782796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.705000	0.68355	2.665000	0.90641	0.650000	0.86243	CAG	KDM3B	-	NULL		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137754897	1	no_errors	ENST00000314358	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	137754897	C	T	137754897	4	4	58	1	0	0	0	0	0	1	0	0	8147	827	29	1	3745	1	KDM3B	5	137754897	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	535653	137754897	43160363	422	8172										
PSD2	84249	genome.wustl.edu	37	chr5	139193876	139193876	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggggtcagtgaagctgctCatcggctggcacgccgtctc	15	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:139193876C>T	ENST00000274710.3	+	4	1148	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	315	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.H315Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTGCTCATCGGCTGGC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											56	49	52					5																	139193876		2203	4300	6503	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.943C>T	5.37:g.139193876C>T	ENSP00000274710:p.His315Tyr		D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.H315Y	ENST00000274710.3	37	c.943	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804803	0.31961	.	.	ENSG00000146005	ENST00000274710	T	0.54479	0.57	4.7	3.73	0.42828	SEC7-like (4);	0.215353	0.36482	N	0.002570	T	0.48768	0.1518	L	0.46157	1.445	0.18873	N	0.999987	B	0.22604	0.072	B	0.32864	0.154	T	0.52411	-0.8579	10	0.72032	D	0.01	.	11.7292	0.51726	0.3189:0.6811:0.0:0.0	.	315	Q9BQI7	PSD2_HUMAN	Y	315	ENSP00000274710:H315Y	ENSP00000274710:H315Y	H	+	1	0	PSD2	139174060	0.998000	0.40836	0.959000	0.39883	0.521000	0.34408	4.153000	0.58118	2.153000	0.67306	0.563000	0.77884	CAT	PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.647	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	C	NM_032289		139193876	1	no_errors	ENST00000274710	ensembl	human	known	70_37	missense	SNP	0.789	T	T	139193876	C	T	139193876	3	4	58	1	0	0	0	0	1	0	0	0	12674	826	29	1	953	1	PSD2	5	139193876	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1438979	139193876	41721384	423	8173										
IK	3550	genome.wustl.edu	37	chr5	140041772	140041772	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgtttttgcagatcattgaGaagaggaagaagatggaagc	13	3	1	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140041772G>A	ENST00000417647.2	+	19	1759	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	WDR55_ENST00000358337.5_5'Flank	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	540					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCATTGAGAAGAGGAAGA	0.478																																																	0													162	154	157					5																	140041772		2027	4189	6216	SO:0001819	synonymous_variant	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1620G>A	5.37:g.140041772G>A			Q6IPD8	Silent	SNP	pfam_RED_N,pfam_RED_C	p.E540	ENST00000417647.2	37	c.1620	CCDS47280.1	5																																																																																			IK	-	pfam_RED_C		0.478	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	IK	HGNC	protein_coding	OTTHUMT00000372897.1	G	NM_006083		140041772	1	no_errors	ENST00000417647	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140041772	G	A	140041772	2	1	58	1	0	0	0	0	0	0	0	1	7628	933	33	1		1	IK	5	140041772	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	847896	140041772	40873488	424	8174										
PCDHA6	56142	genome.wustl.edu	37	chr5	140208780	140208780	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacgctcaatttggtactgtCatcgccctaattagcgtgaa	9	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140208780C>T	ENST00000529310.1	+	1	1218	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.V368V|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	368	Cadherin 4. {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.V368V(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTACTGTCATCGCCCTAA	0.493																																																	2	Substitution - coding silent(2)	cervix(2)											127	123	124					5																	140208780		2203	4297	6500	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1104C>T	5.37:g.140208780C>T			O75283|Q9NRT8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V368	ENST00000529310.1	37	c.1104	CCDS47281.1	5																																																																																			PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.493	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140208780	1	no_errors	ENST00000529310	ensembl	human	known	70_37	silent	SNP	0.555	T	T	140208780	C	T	140208780	2	4	58	1	0	0	0	0	0	0	0	1	11552	813	29	1		1	PCDHA6	5	140208780	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	167008	140208780	40706480	425	8175										
PCDHA10	56139	genome.wustl.edu	37	chr5	140236799	140236799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acaggtcacctgctctctgaCgcctcacgttccgttcaagc	8	16	4	1	rs193920994		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140236799C>T	ENST00000307360.5	+	1	1166	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T389M|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	389	Cadherin 4. {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.T389M(6)		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)			TGCTCTCTGACGCCTCACGTT	0.552																																																	6	Substitution - Missense(6)	cervix(2)|large_intestine(2)|lung(2)											150	130	137					5																	140236799		2196	4275	6471	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1166C>T	5.37:g.140236799C>T	ENSP00000304234:p.Thr389Met		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T389M	ENST00000307360.5	37	c.1166	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	1.826	-0.470985	0.04445	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53206	4.6;0.63	4.0	0.86	0.19042	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29783	0.0744	L	0.39020	1.185	0.09310	N	1	P;P;B	0.46512	0.879;0.83;0.029	B;B;B	0.37239	0.244;0.16;0.04	T	0.12630	-1.0540	9	0.38643	T	0.18	.	4.5978	0.12338	0.1216:0.562:0.2188:0.0975	.	389;389;389	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	389	ENSP00000421030:T389M;ENSP00000304234:T389M	ENSP00000304234:T389M	T	+	2	0	PCDHA10	140216983	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-3.952000	0.00327	0.414000	0.25790	-0.291000	0.09656	ACG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	C	NM_018901		140236799	1	no_errors	ENST00000307360	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140236799	C	T	140236799	3	4	58	1	0	0	0	0	1	0	0	0	11544	536	19	2	1168	2	PCDHA10	5	140236799	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	28019	140236799	40678461	426	8176										
PCDHB6	56130	genome.wustl.edu	37	chr5	140530688	140530688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttacgccctgtttcaagtcGatgacgtcaaccaacccttc	6	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140530688G>A	ENST00000231136.1	+	1	850	c.850G>A	c.(850-852)Gat>Aat	p.D284N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D148N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	284	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D284N(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCAAGTCGATGACGTCAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											89	93	92					5																	140530688		2203	4300	6503	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.850G>A	5.37:g.140530688G>A	ENSP00000231136:p.Asp284Asn		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D284N	ENST00000231136.1	37	c.850	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129557	0.21041	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.03468	3.92;3.92	4.85	2.94	0.34122	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03564	0.0102	L	0.32530	0.975	0.09310	N	1	B	0.24368	0.102	B	0.20767	0.031	T	0.37865	-0.9687	9	0.49607	T	0.09	.	7.1634	0.25677	0.1568:0.1411:0.7021:0.0	.	284	Q9Y5E3	PCDB6_HUMAN	N	148;284;69	ENSP00000438466:D148N;ENSP00000231136:D284N	ENSP00000231136:D284N	D	+	1	0	PCDHB6	140510872	0.005000	0.15991	0.848000	0.33437	0.438000	0.31896	0.661000	0.25023	1.162000	0.42619	0.561000	0.74099	GAT	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	G	NM_018939		140530688	1	no_errors	ENST00000231136	ensembl	human	known	70_37	missense	SNP	0.009	A	A	140530688	G	A	140530688	3	1	58	1	0	0	0	0	1	0	0	0	11570	1058	37	1	852	1	PCDHB6	5	140530688	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	293889	140530688	40384572	427	8177										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140723925	140723925	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctggtaaaaattaacattCtggttgaggataaattgaaa	9	3	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140723925C>T	ENST00000253812.6	+	1	325	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L109L(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTAACATTCTGGTTGAGGA	0.403																																																	1	Substitution - coding silent(1)	cervix(1)											28	31	30					5																	140723925		1986	4207	6193	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.325C>T	5.37:g.140723925C>T			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L109	ENST00000253812.6	37	c.325	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140723925	1	no_errors	ENST00000253812	ensembl	human	known	70_37	silent	SNP	0.133	T	T	140723925	C	T	140723925	2	4	58	1	0	0	0	0	0	0	0	1	11579	912	32	1		1	PCDHGA3	5	140723925	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	193237	140723925	40191335	428	8178										
FCHSD1	89848	genome.wustl.edu	37	chr5	141023934	141023934	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccggggcagcagacggatgaGtgccccctcagggaagctca	15	13	2	2	rs139206388	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:141023934G>C	ENST00000435817.2	-	17	1764	c.1714C>G	c.(1714-1716)Ctc>Gtc	p.L572V	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.L498V	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	572	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.							p.L572V(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGATGAGTGCCCCCTCA	0.627																																																	1	Substitution - Missense(1)	cervix(1)											37	42	40					5																	141023934		1930	4127	6057	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1714C>G	5.37:g.141023934G>C	ENSP00000399259:p.Leu572Val		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.L572V	ENST00000435817.2	37	c.1714	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056733	0.36277	.	.	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.40476	1.03;1.03	5.44	2.59	0.31030	Src homology-3 domain (3);Variant SH3 (1);	0.248291	0.32175	N	0.006471	T	0.12689	0.0308	N	0.00783	-1.19	0.80722	D	1	P;B	0.38335	0.627;0.379	B;B	0.40329	0.295;0.326	T	0.05370	-1.0889	10	0.11182	T	0.66	-12.0057	5.4579	0.16600	0.1565:0.0:0.4393:0.4042	.	252;572	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	V	572;498	ENSP00000399259:L572V;ENSP00000428677:L498V	ENSP00000399259:L572V	L	-	1	0	FCHSD1	141004118	0.868000	0.29978	0.650000	0.29550	0.867000	0.49689	1.230000	0.32612	0.827000	0.34685	0.655000	0.94253	CTC	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.627	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	G	NM_033449		141023934	-1	no_errors	ENST00000435817	ensembl	human	known	70_37	missense	SNP	0.814	C	C	141023934	G	C	141023934	3	2	58	1	0	0	0	0	1	0	0	0	5807	1029	36	4	374	4	FCHSD1	5	141023934	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	300009	141023934	39891326	429	8179										
RNF14	9604	genome.wustl.edu	37	chr5	141359694	141359694	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtatttccctccaggtcaaaGagttagtggaagcagagtta	11	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:141359694G>C	ENST00000394520.2	+	6	1150	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	RNF14_ENST00000394519.1_Missense_Mutation_p.E281Q|RNF14_ENST00000347642.3_Missense_Mutation_p.E281Q|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394515.3_Missense_Mutation_p.E105Q|RNF14_ENST00000356143.1_Missense_Mutation_p.E281Q|RNF14_ENST00000394514.2_Missense_Mutation_p.E155Q|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	281					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E281Q(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCAGGTCAAAGAGTTAGTGGA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											122	109	114					5																	141359694		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.841G>C	5.37:g.141359694G>C	ENSP00000378028:p.Glu281Gln		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.E281Q	ENST00000394520.2	37	c.841	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264642	0.40095	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000394514;ENST00000394515;ENST00000394519	D;D;D;D;T;D	0.87966	-2.32;-2.32;-2.32;-2.32;2.03;-2.32	4.99	4.99	0.66335	.	0.178212	0.50627	D	0.000104	T	0.82001	0.4942	L	0.35854	1.095	0.42926	D	0.994305	B;B	0.32968	0.392;0.073	B;B	0.38296	0.27;0.046	T	0.77487	-0.2569	10	0.13853	T	0.58	.	13.6045	0.62039	0.0:0.0:0.8449:0.1551	.	105;281	B7Z229;Q9UBS8	.;RNF14_HUMAN	Q	281;281;281;155;105;281	ENSP00000348462:E281Q;ENSP00000378028:E281Q;ENSP00000324956:E281Q;ENSP00000378022:E155Q;ENSP00000378023:E105Q;ENSP00000378027:E281Q	ENSP00000324956:E281Q	E	+	1	0	RNF14	141339878	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.480000	0.83734	0.650000	0.86243	GAG	RNF14	-	NULL		0.507	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	G	NM_004290		141359694	1	no_errors	ENST00000347642	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141359694	G	C	141359694	3	2	58	1	0	0	0	0	1	0	0	0	13473	943	33	1	855	1	RNF14	5	141359694	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	335760	141359694	39555566	430	8180										
GM2A	2760	genome.wustl.edu	37	chr5	150632828	150632828	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcgccctgggcttgcttctCgcggcccctgcgcaagccca	11	18	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150632828C>T	ENST00000357164.3	+	1	376	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	17					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)	p.L17L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTGCTTCTCGCGGCCCCTG	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											57	57	57					5																	150632828		2203	4300	6503	SO:0001819	synonymous_variant	2760				CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.51C>T	5.37:g.150632828C>T			B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	smart_MD-2_lipid-recog	p.L17	ENST00000357164.3	37	c.51	CCDS4313.1	5																																																																																			GM2A	-	NULL		0.627	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GM2A	HGNC	protein_coding	OTTHUMT00000252432.1	C	NM_000405		150632828	1	no_errors	ENST00000357164	ensembl	human	known	70_37	silent	SNP	0.006	T	T	150632828	C	T	150632828	2	4	58	1	0	0	0	0	0	0	0	1	6503	871	31	1		1	GM2A	5	150632828	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9273134	150632828	30282432	431	8181										
FAT2	2196	genome.wustl.edu	37	chr5	150892005	150892005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagttctctgggaccacaaGggaggtgttgcccatgctgt	14	10	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150892005G>T	ENST00000261800.5	-	20	11638	c.11626C>A	c.(11626-11628)Ctt>Att	p.L3876I	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3876	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3876I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGACCACAAGGGAGGTGTTG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											109	98	102					5																	150892005		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11626C>A	5.37:g.150892005G>T	ENSP00000261800:p.Leu3876Ile		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3876I	ENST00000261800.5	37	c.11626	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134889	0.37728	.	.	ENSG00000086570	ENST00000261800	T	0.77358	-1.09	5.02	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000084	T	0.74366	0.3707	M	0.62723	1.935	0.20926	N	0.999825	P	0.43578	0.811	B	0.40602	0.334	T	0.69960	-0.5003	9	.	.	.	.	13.708	0.62651	0.0:0.0:0.8471:0.1529	.	3876	Q9NYQ8	FAT2_HUMAN	I	3876	ENSP00000261800:L3876I	.	L	-	1	0	FAT2	150872198	1.000000	0.71417	0.900000	0.35374	0.246000	0.25737	4.197000	0.58413	2.479000	0.83701	0.561000	0.74099	CTT	FAT2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150892005	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.353	T	T	150892005	G	T	150892005	3	4	58	1	0	0	0	0	1	0	0	0	5708	1000	35	4	1439	4	FAT2	5	150892005	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	259177	150892005	30023255	432	8182										
FAT2	2196	genome.wustl.edu	37	chr5	150932740	150932740	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctaggccttgcctcacctGagatgttgaaccagaagagt	10	12	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150932740G>C	ENST00000261800.5	-	5	4166	c.4154C>G	c.(4153-4155)tCa>tGa	p.S1385*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1385	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1385*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCACCTGAGATGTTGAA	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											83	80	81					5																	150932740		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4154C>G	5.37:g.150932740G>C	ENSP00000261800:p.Ser1385*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1385*	ENST00000261800.5	37	c.4154	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.707171	0.99454	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.23	5.23	0.72850	.	0.442716	0.19308	N	0.117466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.8145	0.88627	0.0:0.0:1.0:0.0	.	.	.	.	X	1385	.	ENSP00000261800:S1385X	S	-	2	0	FAT2	150912933	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.794000	0.55492	2.453000	0.82957	0.561000	0.74099	TCA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150932740	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	150932740	G	C	150932740	4	2	58	1	0	0	0	0	0	1	0	0	5708	1294	45	1	8971	1	FAT2	5	150932740	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	40735	150932740	29982520	433	8183										
FAT2	2196	genome.wustl.edu	37	chr5	150947186	150947186	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggtggaggcctggcccggtGaggttctgatgtgtagctga	18	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150947186G>A	ENST00000261800.5	-	1	1319	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	436	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S436L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCCCGGTGAGGTTCTGAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											131	127	128					5																	150947186		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1307C>T	5.37:g.150947186G>A	ENSP00000261800:p.Ser436Leu		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S436L	ENST00000261800.5	37	c.1307	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	8.371	0.835262	0.16820	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.334395	0.25729	N	0.028695	T	0.52058	0.1711	L	0.52573	1.65	0.21064	N	0.999797	B	0.28713	0.22	B	0.24541	0.054	T	0.47100	-0.9143	10	0.36615	T	0.2	.	15.7496	0.77972	0.0:0.2739:0.7261:0.0	.	436	Q9NYQ8	FAT2_HUMAN	L	436	ENSP00000261800:S436L	ENSP00000261800:S436L	S	-	2	0	FAT2	150927379	0.066000	0.20996	0.247000	0.24249	0.514000	0.34195	1.745000	0.38278	2.642000	0.89623	0.561000	0.74099	TCA	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150947186	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.266	A	A	150947186	G	A	150947186	3	1	58	1	0	0	0	0	1	0	0	0	5708	1294	45	1	11834	1	FAT2	5	150947186	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	14446	150947186	29968074	434	8184										
HAVCR2	84868	genome.wustl.edu	37	chr5	156522409	156522409	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctattctgatggttgctccaGagtcccgtaagtcattggcc	10	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:156522409G>C	ENST00000307851.4	-	5	1314	c.584C>G	c.(583-585)tCt>tGt	p.S195C	HAVCR2_ENST00000522593.1_Missense_Mutation_p.S167C	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	195						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S195C(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTTGCTCCAGAGTCCCGTAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											101	100	100					5																	156522409		2203	4300	6503	SO:0001583	missense	84868			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.584C>G	5.37:g.156522409G>C	ENSP00000312002:p.Ser195Cys		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S195C	ENST00000307851.4	37	c.584	CCDS4333.1	5	.	.	.	.	.	.	.	.	.	.	G	3.336	-0.135682	0.06711	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.19394	2.15;2.46	0.0465	0.0465	0.14256	.	0.955655	0.08615	N	0.919333	T	0.25382	0.0617	L	0.40543	1.245	0.09310	N	1	P	0.46578	0.88	P	0.52481	0.7	T	0.24440	-1.0160	9	0.51188	T	0.08	-0.6049	.	.	.	.	195	Q8TDQ0	HAVR2_HUMAN	C	195;167	ENSP00000312002:S195C;ENSP00000430873:S167C	ENSP00000312002:S195C	S	-	2	0	HAVCR2	156454987	0.004000	0.15560	0.015000	0.15790	0.015000	0.08874	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	TCT	HAVCR2	-	NULL		0.453	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	G			156522409	-1	no_errors	ENST00000307851	ensembl	human	known	70_37	missense	SNP	0.016	C	C	156522409	G	C	156522409	3	2	58	1	0	0	0	0	1	0	0	0	6994	942	33	1	333	1	HAVCR2	5	156522409	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5575223	156522409	24392851	435	8185										
HMMR	3161	genome.wustl.edu	37	chr5	162902673	162902673	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaactcctagaagaaaagctGaaagggtttgtattaatagg	10	4	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:162902673G>A	ENST00000358715.3	+	11	1296	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	HMMR_ENST00000393915.4_Silent_p.L421L|HMMR_ENST00000353866.3_Silent_p.L405L|HMMR_ENST00000432118.2_Silent_p.L334L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	420					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.L420L(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAGAAAAGCTGAAAGGGTTTG	0.343																																																	1	Substitution - coding silent(1)	cervix(1)											47	53	51					5																	162902673		2199	4300	6499	SO:0001819	synonymous_variant	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1260G>A	5.37:g.162902673G>A			A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	NULL	p.L421	ENST00000358715.3	37	c.1263	CCDS4362.1	5																																																																																			HMMR	-	NULL		0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162902673	1	no_errors	ENST00000393915	ensembl	human	known	70_37	silent	SNP	0.091	A	A	162902673	G	A	162902673	2	1	58	1	0	0	0	0	0	0	0	1	7262	1277	45	1		1	HMMR	5	162902673	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6380264	162902673	18012587	436	8186										
ODZ2	57451	genome.wustl.edu	37	chr5	167489109	167489109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcatagacagtggtgaagcaGaagttggtcggcgggtaaca	16	6	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:167489109G>A	ENST00000518659.1	+	7	1393	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	TENM2_ENST00000403607.2_Missense_Mutation_p.E285K|TENM2_ENST00000545108.1_Missense_Mutation_p.E452K|TENM2_ENST00000520394.1_Missense_Mutation_p.E220K|TENM2_ENST00000519204.1_Missense_Mutation_p.E331K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	452					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E285K(1)|p.E452K(1)|p.E331K(1)									TGGTGAAGCAGAAGTTGGTCG	0.448																																																	3	Substitution - Missense(3)	cervix(3)											85	85	85					5																	167489109		1853	4096	5949	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1354G>A	5.37:g.167489109G>A	ENSP00000429430:p.Glu452Lys		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E452K	ENST00000518659.1	37	c.1354		5	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861001	0.71949	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.63	4.76	0.60689	.	0.161689	0.53938	D	0.000059	T	0.37320	0.0999	M	0.66939	2.045	0.52099	D	0.999944	P;P;P	0.43542	0.81;0.587;0.721	P;B;P	0.47786	0.49;0.225;0.557	T	0.14337	-1.0476	10	0.41790	T	0.15	.	14.5185	0.67835	0.0702:0.0:0.9298:0.0	.	452;220;331	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	K	452;452;331;220;285	ENSP00000429430:E452K;ENSP00000438635:E452K;ENSP00000428964:E331K;ENSP00000427874:E220K;ENSP00000384905:E285K	ENSP00000384905:E285K	E	+	1	0	ODZ2	167421687	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	9.869000	0.99810	1.378000	0.46305	0.655000	0.94253	GAA	TENM2	-	NULL		0.448	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167489109	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167489109	G	A	167489109	3	1	58	1	0	0	0	0	1	0	0	0	10859	943	33	1	1380	1	ODZ2	5	167489109	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4586436	167489109	13426151	437	8187										
ODZ2	57451	genome.wustl.edu	37	chr5	167671458	167671458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atctcttgtccattgactatGatcgaaatattcggactgaa	7	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:167671458G>A	ENST00000518659.1	+	26	5593	c.5554G>A	c.(5554-5556)Gat>Aat	p.D1852N	TENM2_ENST00000403607.2_Missense_Mutation_p.D1676N|TENM2_ENST00000545108.1_Missense_Mutation_p.D1851N|TENM2_ENST00000520394.1_Missense_Mutation_p.D1613N|TENM2_ENST00000519204.1_Missense_Mutation_p.D1731N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1852					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.D1685N(1)|p.D1731N(1)|p.D1852N(1)									CATTGACTATGATCGAAATAT	0.502																																																	3	Substitution - Missense(3)	cervix(3)											66	61	63					5																	167671458		1902	4129	6031	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5554G>A	5.37:g.167671458G>A	ENSP00000429430:p.Asp1852Asn		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D1852N	ENST00000518659.1	37	c.5554		5	.	.	.	.	.	.	.	.	.	.	G	32	5.132396	0.94473	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93133	-2.68;-2.67;-2.82;-3.1;-3.17	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.83012	2.62	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.991	D	0.97048	0.9762	10	0.52906	T	0.07	.	18.1051	0.89517	0.0:0.0:1.0:0.0	.	1851;1852;1613	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	N	1852;1851;1731;1613;1676	ENSP00000429430:D1852N;ENSP00000438635:D1851N;ENSP00000428964:D1731N;ENSP00000427874:D1613N;ENSP00000384905:D1676N	ENSP00000384905:D1676N	D	+	1	0	ODZ2	167604036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.275000	0.75901	0.561000	0.74099	GAT	TENM2	-	superfamily_ConA-like_lec_gl_sf		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167671458	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167671458	G	A	167671458	3	1	58	1	0	0	0	0	1	0	0	0	10859	1290	45	1	5629	1	ODZ2	5	167671458	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	182349	167671458	13243802	438	8188										
PANK3	79646	genome.wustl.edu	37	chr5	167995799	167995799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taaagtgcaagttccctcttCggccaaaaagtgttaaatct	7	9	2	0	rs376150396		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:167995799C>T	ENST00000239231.6	-	2	549	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	78					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R78Q(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GTTCCCTCTTCGGCCAAAAAG	0.413																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG	0,4406		0,0,2203	121	119	120		233	4.9	1	5		120	2,8594	2.2+/-6.3	0,2,4296	no	missense	PANK3	NM_024594.3	43	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	78/371	167995799	2,13000	2203	4298	6501	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.233G>A	5.37:g.167995799C>T	ENSP00000239231:p.Arg78Gln		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.R78Q	ENST00000239231.6	37	c.233	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486454	0.63962	0.0	2.33E-4	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99503	-6.03;-6.03	5.81	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	L	0.38733	1.17	0.58432	D	0.999992	P	0.37914	0.611	B	0.27262	0.078	D	0.97960	1.0337	10	0.26408	T	0.33	-9.8197	14.2912	0.66278	0.0:0.9292:0.0:0.0708	.	78	Q9H999	PANK3_HUMAN	Q	78;63	ENSP00000239231:R78Q;ENSP00000428631:R63Q	ENSP00000239231:R78Q	R	-	2	0	PANK3	167928377	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.097000	0.71452	1.467000	0.48044	-0.123000	0.14984	CGA	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.413	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	C	NM_024594		167995799	-1	no_errors	ENST00000239231	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167995799	C	T	167995799	3	4	58	1	0	0	0	0	1	0	0	0	11442	884	31	1	903	1	PANK3	5	167995799	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	324341	167995799	12919461	439	8189										
LCP2	3937	genome.wustl.edu	37	chr5	169689718	169689718	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggtggtaaaggaggcttttGaatcttgggtaaatgctccc	13	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:169689718G>A	ENST00000046794.5	-	13	1462	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	LCP2_ENST00000521416.1_Nonsense_Mutation_p.Q78*	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	283					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.Q283*(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAGGCTTTTGAATCTTGGGT	0.502																																																	2	Substitution - Nonsense(2)	cervix(2)											87	86	86					5																	169689718		1934	4144	6078	SO:0001587	stop_gained	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.847C>T	5.37:g.169689718G>A	ENSP00000046794:p.Gln283*		A8KA25|Q53XV4	Nonsense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.Q283*	ENST00000046794.5	37	c.847	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801702	0.90538	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	.	.	.	5.65	4.75	0.60458	.	0.571382	0.18013	N	0.154485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4478	9.7824	0.40656	0.0991:0.0:0.9009:0.0	.	.	.	.	X	283;78;50	.	.	Q	-	1	0	LCP2	169622296	0.714000	0.27936	0.264000	0.24511	0.222000	0.24845	3.796000	0.55507	1.320000	0.45209	0.655000	0.94253	CAA	LCP2	-	NULL		0.502	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	G	NM_005565		169689718	-1	no_errors	ENST00000046794	ensembl	human	known	70_37	nonsense	SNP	0.811	A	A	169689718	G	A	169689718	4	1	58	1	0	0	0	0	0	1	0	0	8712	1299	45	1	790	1	LCP2	5	169689718	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1693919	169689718	11225542	440	8190										
UBTD2	92181	genome.wustl.edu	37	chr5	171639088	171639088	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgcaaacgaagctgacattCatatccagaattgggtggtg	12	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:171639088C>G	ENST00000393792.2	-	3	856	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	151						cytoplasm (GO:0005737)		p.E151Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTGACATTCATATCCAGAA	0.493																																																	1	Substitution - Missense(1)	cervix(1)											172	153	159					5																	171639088		2203	4300	6503	SO:0001583	missense	92181			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"dendritic cell derived ubiquitin like protein"	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.451G>C	5.37:g.171639088C>G	ENSP00000377381:p.Glu151Gln		Q8TDQ3	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup	p.E151Q	ENST00000393792.2	37	c.451	CCDS4379.2	5	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243036	0.79912	.	.	ENSG00000168246	ENST00000393792	T	0.30714	1.52	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.83953	2.67	0.80722	D	1	B	0.30793	0.295	B	0.34722	0.188	T	0.43956	-0.9359	10	0.66056	D	0.02	.	13.1696	0.59591	0.0:0.923:0.0:0.077	.	151	Q8WUN7	UBTD2_HUMAN	Q	151	ENSP00000377381:E151Q	ENSP00000377381:E151Q	E	-	1	0	UBTD2	171571693	1.000000	0.71417	0.645000	0.29479	0.939000	0.58152	7.475000	0.81041	1.533000	0.49186	0.655000	0.94253	GAA	UBTD2	-	NULL		0.493	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTD2	HGNC	protein_coding	OTTHUMT00000252936.1	C	NM_152277		171639088	-1	no_errors	ENST00000393792	ensembl	human	known	70_37	missense	SNP	0.999	G	G	171639088	C	G	171639088	3	3	58	1	0	0	0	0	1	0	0	0	16939	835	29	1	257	1	UBTD2	5	171639088	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1949370	171639088	9276172	441	8191										
HRH2	3274	genome.wustl.edu	37	chr5	175111023	175111023	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accgtgggctgagaggggatGatgccatcaatgaggtgtta	16	6	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:175111023G>A	ENST00000231683.2	+	1	2560	c.787G>A	c.(787-789)Gat>Aat	p.D263N	HRH2_ENST00000377291.2_Missense_Mutation_p.D263N	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	263					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.D263N(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GAGAGGGGATGATGCCATCAA	0.567																																																	1	Substitution - Missense(1)	cervix(1)											137	111	120					5																	175111023		2203	4300	6503	SO:0001583	missense	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.787G>A	5.37:g.175111023G>A	ENSP00000231683:p.Asp263Asn		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.D263N	ENST00000231683.2	37	c.787	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901564	0.17760	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.70986	-0.53;-0.53	4.13	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.776405	0.12297	N	0.481518	T	0.44932	0.1317	N	0.10733	0.035	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.25759	0.026;0.063	T	0.30707	-0.9969	10	0.15952	T	0.53	.	3.7832	0.08689	0.3231:0.1932:0.4837:0.0	.	263;263	P25021;Q7Z5R9	HRH2_HUMAN;.	N	263	ENSP00000366506:D263N;ENSP00000231683:D263N	ENSP00000231683:D263N	D	+	1	0	HRH2	175043629	0.002000	0.14202	0.008000	0.14137	0.773000	0.43773	0.915000	0.28638	0.404000	0.25506	0.555000	0.69702	GAT	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	G			175111023	1	no_errors	ENST00000377291	ensembl	human	known	70_37	missense	SNP	0.000	A	A	175111023	G	A	175111023	3	1	58	1	0	0	0	0	1	0	0	0	7376	1290	45	1	789	1	HRH2	5	175111023	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3471935	175111023	5804237	442	8192										
SLC34A1	6569	genome.wustl.edu	37	chr5	176824804	176824804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attgccctctgtcacttcttCttcaacatctcgggtatcct	5	14	6	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:176824804C>G	ENST00000324417.5	+	13	1528	c.1437C>G	c.(1435-1437)ttC>ttG	p.F479L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	479					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.F479L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCACTTCTTCTTCAACATCT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											104	90	95					5																	176824804		2203	4300	6503	SO:0001583	missense	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1437C>G	5.37:g.176824804C>G	ENSP00000321424:p.Phe479Leu		B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.F479L	ENST00000324417.5	37	c.1437	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424248	0.62733	.	.	ENSG00000131183	ENST00000324417	D	0.83992	-1.79	5.38	3.26	0.37387	.	0.107851	0.64402	D	0.000005	T	0.77438	0.4130	L	0.28344	0.845	0.40810	D	0.983417	B	0.27498	0.18	B	0.38225	0.268	T	0.77133	-0.2700	10	0.54805	T	0.06	-3.5868	12.7294	0.57189	0.0:0.8428:0.0:0.1572	.	479	Q06495	NPT2A_HUMAN	L	479	ENSP00000321424:F479L	ENSP00000321424:F479L	F	+	3	2	SLC34A1	176757410	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.506000	0.45433	1.262000	0.44165	0.484000	0.47621	TTC	SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.617	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824804	1	no_errors	ENST00000324417	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176824804	C	G	176824804	3	3	58	1	0	0	0	0	1	0	0	0	14597	912	32	1	1574	1	SLC34A1	5	176824804	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1713781	176824804	4090456	443	8193										
OR2V2	285659	genome.wustl.edu	37	chr5	180582416	180582416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgggataatcgatggcttGatccagatggtggtagtaat	13	4	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:180582416G>C	ENST00000328275.1	+	1	474	c.474G>C	c.(472-474)ttG>ttC	p.L158F		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGATGGCTTGATCCAGATGG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											219	209	212					5																	180582416		2203	4300	6503	SO:0001583	missense	285659			AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.474G>C	5.37:g.180582416G>C	ENSP00000332185:p.Leu158Phe		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L158F	ENST00000328275.1	37	c.474	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	0.108	-1.142185	0.01728	.	.	ENSG00000182613	ENST00000328275	T	0.00274	8.35	3.27	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	1.488390	0.05075	N	0.482350	T	0.00210	0.0006	L	0.33093	0.98	0.19945	N	0.999947	P	0.49307	0.922	P	0.46850	0.529	T	0.45293	-0.9271	10	0.06099	T	0.92	.	7.9848	0.30205	0.0:0.0:0.5571:0.4429	.	158	Q96R30	OR2V2_HUMAN	F	158	ENSP00000332185:L158F	ENSP00000332185:L158F	L	+	3	2	OR2V2	180515022	0.000000	0.05858	0.490000	0.27465	0.026000	0.11368	-0.471000	0.06631	0.670000	0.31165	0.305000	0.20034	TTG	OR2V2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	HGNC	protein_coding	OTTHUMT00000253529.1	G			180582416	1	no_errors	ENST00000328275	ensembl	human	known	70_37	missense	SNP	0.347	C	C	180582416	G	C	180582416	3	2	58	1	0	0	0	0	1	0	0	0	11055	1281	45	1	476	1	OR2V2	5	180582416	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3757612	180582416	332844	444	8194										
TRIM7	81786	genome.wustl.edu	37	chr5	180631636	180631636	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggcagcacggcgtgctcgcGgtgctcgcgggcgcggtcgc	19	15	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:180631636G>C	ENST00000274773.7	-	1	536	c.475C>G	c.(475-477)Cgc>Ggc	p.R159G	CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.1_ENST00000503314.1_RNA|TRIM7_ENST00000393315.1_5'Flank|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000334421.5_Missense_Mutation_p.R159G|TRIM7_ENST00000422067.2_5'Flank|TRIM7_ENST00000361809.3_5'Flank|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	159						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R159G(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCGTGCTCGCGGTGCTCGCGG	0.731																																					Esophageal Squamous(128;2258 2308 35507 48647)												1	Substitution - Missense(1)	cervix(1)											4	4	4					5																	180631636		1776	3537	5313	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.475C>G	5.37:g.180631636G>C	ENSP00000274773:p.Arg159Gly		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R159G	ENST00000274773.7	37	c.475	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505094	0.64410	.	.	ENSG00000146054	ENST00000274773;ENST00000334421	T;T	0.47869	0.83;0.83	3.71	3.71	0.42584	Zinc finger, B-box, chordata (1);Zinc finger, B-box (3);	0.150283	0.31167	N	0.008127	T	0.65112	0.2660	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.846	D;P	0.70487	0.969;0.579	T	0.70303	-0.4909	10	0.87932	D	0	.	13.0822	0.59119	0.0:0.0:1.0:0.0	.	159;159	Q9C029-1;Q9C029	.;TRIM7_HUMAN	G	159	ENSP00000274773:R159G;ENSP00000334666:R159G	ENSP00000274773:R159G	R	-	1	0	TRIM7	180564242	0.999000	0.42202	1.000000	0.80357	0.724000	0.41520	1.354000	0.34056	1.932000	0.55993	0.194000	0.17425	CGC	TRIM7	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box,prints_Znf_B-box_chordata		0.731	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	G	NM_203296		180631636	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	0.996	C	C	180631636	G	C	180631636	3	2	58	1	0	0	0	0	1	0	0	0	16574	1116	39	2	1208	2	TRIM7	5	180631636	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	49220	180631636	283624	445	8195										
GMDS	2762	genome.wustl.edu	37	chr6	1624425	1624425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggcattggggtttgtcctCatgagctccacgtcggcgtg	14	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:1624425C>G	ENST00000380815.4	-	11	1367	c.1098G>C	c.(1096-1098)atG>atC	p.M366I	GMDS_ENST00000530927.1_Missense_Mutation_p.M336I|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	366					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.M366I(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GGTTTGTCCTCATGAGCTCCA	0.677																																																	1	Substitution - Missense(1)	cervix(1)											64	56	59					6																	1624425		2203	4300	6503	SO:0001583	missense	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1098G>C	6.37:g.1624425C>G	ENSP00000370194:p.Met366Ile		E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.M366I	ENST00000380815.4	37	c.1098	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342272	0.61073	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.74389	2.26	0.80722	D	1	B	0.14805	0.011	B	0.15052	0.012	T	0.57124	-0.7865	9	0.35671	T	0.21	-7.4865	17.3548	0.87333	0.0:1.0:0.0:0.0	.	366	O60547	GMDS_HUMAN	I	336;366	.	ENSP00000370194:M366I	M	-	3	0	GMDS	1569424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.054000	0.71096	2.604000	0.88044	0.555000	0.69702	ATG	GMDS	-	NULL		0.677	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	C			1624425	-1	no_errors	ENST00000380815	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1624425	C	G	1624425	3	3	58	1	0	0	0	0	1	0	0	0	6505	826	29	1	24	1	GMDS	6	1624425	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		1624425	169490642	446	8196										
MYLK4	340156	genome.wustl.edu	37	chr6	2749514	2749514	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgttgaattcttccagcctCttcacttttaacatcttagt	5	10	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:2749514C>G	ENST00000274643.7	-	2	357	c.15G>C	c.(13-15)aaG>aaC	p.K5N	MYLK4_ENST00000268446.5_Missense_Mutation_p.K5N	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	5						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K5N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTCCAGCCTCTTCACTTTTA	0.418																																																	2	Substitution - Missense(2)	cervix(2)											111	113	112					6																	2749514		2203	4300	6503	SO:0001583	missense	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.15G>C	6.37:g.2749514C>G	ENSP00000274643:p.Lys5Asn		A2RUC0|Q5TAW2	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.K5N	ENST00000274643.7	37	c.15	CCDS34330.1	6	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376308	0.42105	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.67523	0.04;-0.27	5.58	1.31	0.21738	.	.	.	.	.	T	0.19005	0.0456	N	0.08118	0	0.30717	N	0.748691	B	0.06786	0.001	B	0.06405	0.002	T	0.04565	-1.0942	9	0.33940	T	0.23	.	3.235	0.06761	0.2031:0.3162:0.3864:0.0943	.	5	Q86YV6	MYLK4_HUMAN	N	5	ENSP00000268446:K5N;ENSP00000274643:K5N	ENSP00000268446:K5N	K	-	3	2	MYLK4	2694513	0.987000	0.35691	0.991000	0.47740	0.840000	0.47671	0.072000	0.14617	0.263000	0.21812	0.655000	0.94253	AAG	MYLK4	-	NULL		0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK4	HGNC	protein_coding	OTTHUMT00000039632.2	C	NM_001012418		2749514	-1	no_errors	ENST00000268446	ensembl	human	known	70_37	missense	SNP	0.998	G	G	2749514	C	G	2749514	3	3	58	1	0	0	0	0	1	0	0	0	10082	912	32	1	1195	1	MYLK4	6	2749514	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1125089	2749514	168365553	447	8197										
FAM50B	26240	genome.wustl.edu	37	chr6	3850731	3850731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggacttcctggagctgcgctCcgccggcgtggagcagctca	15	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:3850731C>T	ENST00000380274.1	+	1	1112	c.686C>T	c.(685-687)tCc>tTc	p.S229F	FAM50B_ENST00000380272.3_Missense_Mutation_p.S229F			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	229						nucleus (GO:0005634)		p.S229F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GAGCTGCGCTCCGCCGGCGTG	0.652																																																	1	Substitution - Missense(1)	cervix(1)											50	48	49					6																	3850731		2203	4300	6503	SO:0001583	missense	26240			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.686C>T	6.37:g.3850731C>T	ENSP00000369627:p.Ser229Phe		Q5T2L6	Missense_Mutation	SNP	pfam_XAP5	p.S229F	ENST00000380274.1	37	c.686	CCDS4487.1	6	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037483	0.54896	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	4.34	0.51931	.	0.233678	0.38111	N	0.001808	T	0.55114	0.1900	M	0.78801	2.425	0.09310	N	1	P	0.45531	0.86	P	0.59948	0.866	T	0.47394	-0.9121	9	0.56958	D	0.05	-12.1268	12.6215	0.56605	0.0:1.0:0.0:0.0	.	229	Q9Y247	FA50B_HUMAN	F	229	.	ENSP00000369625:S229F	S	+	2	0	FAM50B	3795730	0.001000	0.12720	0.005000	0.12908	0.988000	0.76386	1.230000	0.32612	2.430000	0.82344	0.555000	0.69702	TCC	FAM50B	-	pfam_XAP5		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM50B	HGNC	protein_coding	OTTHUMT00000039693.1	C	NM_012135		3850731	1	no_errors	ENST00000380272	ensembl	human	known	70_37	missense	SNP	0.006	T	T	3850731	C	T	3850731	3	4	58	1	0	0	0	0	1	0	0	0	5596	855	30	1	688	1	FAM50B	6	3850731	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1101217	3850731	167264336	448	8198										
CAGE1	285782	genome.wustl.edu	37	chr6	7373584	7373584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttttcaagtttctggaattCctcctgtaaagacaagaact	6	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:7373584C>T	ENST00000512086.1	-	5	1670	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	CAGE1_ENST00000296742.7_Missense_Mutation_p.E354K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E490K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E490K|CAGE1_ENST00000502583.1_Missense_Mutation_p.E490K|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	490								p.E490K(2)|p.E354K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTCTGGAATTCCTCCTGTAAA	0.383																																																	3	Substitution - Missense(3)	cervix(3)											55	47	50					6																	7373584		1803	4070	5873	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1468G>A	6.37:g.7373584C>T	ENSP00000427583:p.Glu490Lys		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.E490K	ENST00000512086.1	37	c.1468		6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283500	0.80803	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000027	T	0.54967	0.1891	M	0.65498	2.005	0.37598	D	0.920463	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.60929	-0.7165	10	0.87932	D	0	-18.8878	14.3226	0.66496	0.0:1.0:0.0:0.0	.	490;490;490	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	K	490;490;490;354;490;490;490;502	ENSP00000369250:E490K;ENSP00000425493:E490K;ENSP00000296742:E354K;ENSP00000427583:E490K;ENSP00000338107:E490K;ENSP00000423789:E502K	ENSP00000296742:E354K	E	-	1	0	CAGE1	7318583	0.990000	0.36364	1.000000	0.80357	0.923000	0.55619	2.043000	0.41231	2.450000	0.82876	0.591000	0.81541	GAA	CAGE1	-	NULL		0.383	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	C	NM_175745		7373584	-1	no_errors	ENST00000338150	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7373584	C	T	7373584	3	4	58	1	0	0	0	0	1	0	0	0	2577	864	30	1	1197	1	CAGE1	6	7373584	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3522853	7373584	163741483	449	8199										
RIOK1	83732	genome.wustl.edu	37	chr6	7413155	7413155	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgttacaggattgaagaaaGatttgtcaggagttcagaag	12	4	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:7413155G>C	ENST00000379834.2	+	15	1930	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	475	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D468H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATTGAAGAAAGATTTGTCAGG	0.274																																																	1	Substitution - Missense(1)	cervix(1)											103	104	104					6																	7413155		2203	4293	6496	SO:0001583	missense	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1423G>C	6.37:g.7413155G>C	ENSP00000369162:p.Asp475His		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.D475H	ENST00000379834.2	37	c.1423	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094077	0.76870	.	.	ENSG00000124784	ENST00000379834	T	0.07327	3.2	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	M	0.83603	2.65	0.80722	D	1	P	0.50443	0.935	P	0.47075	0.536	T	0.01791	-1.1273	10	0.72032	D	0.01	-31.0826	13.9281	0.63975	0.0728:0.0:0.9272:0.0	.	475	Q9BRS2	RIOK1_HUMAN	H	475	ENSP00000369162:D475H	ENSP00000369162:D475H	D	+	1	0	RIOK1	7358154	1.000000	0.71417	0.971000	0.41717	0.976000	0.68499	8.269000	0.89878	1.438000	0.47492	0.563000	0.77884	GAT	RIOK1	-	pirsf_Ser/Thr_kinase_Rio1		0.274	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	G	NM_031480		7413155	1	no_errors	ENST00000379834	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7413155	G	C	7413155	3	2	58	1	0	0	0	0	1	0	0	0	13407	942	33	1	1481	1	RIOK1	6	7413155	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	39571	7413155	163701912	450	8200										
DSP	1832	genome.wustl.edu	37	chr6	7582905	7582905	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggattcaggaatcaaagaatCagtgtactcaggtggtacag	12	6	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:7582905C>T	ENST00000379802.3	+	24	5751	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q1205*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1804	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q1804*(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAAAGAATCAGTGTACTCA	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											96	103	100					6																	7582905		2203	4300	6503	SO:0001587	stop_gained	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5410C>T	6.37:g.7582905C>T	ENSP00000369129:p.Gln1804*		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1804*	ENST00000379802.3	37	c.5410	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	45	11.382026	0.99554	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	.	.	.	5.21	5.21	0.72293	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.7137	0.62682	0.154:0.846:0.0:0.0	.	.	.	.	X	1804;1205	.	ENSP00000369129:Q1804X	Q	+	1	0	DSP	7527904	0.967000	0.33354	0.943000	0.38184	0.339000	0.28857	2.207000	0.42788	2.415000	0.81967	0.655000	0.94253	CAG	DSP	-	NULL		0.403	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7582905	1	no_errors	ENST00000379802	ensembl	human	known	70_37	nonsense	SNP	0.987	T	T	7582905	C	T	7582905	4	4	58	1	0	0	0	0	0	1	0	0	4791	827	29	1	5504	1	DSP	6	7582905	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	169750	7582905	163532162	451	8201										
HIVEP1	3096	genome.wustl.edu	37	chr6	12125327	12125327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaccagaagcgggccaaaGatgaaaatggagctgtttgt	13	7	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:12125327G>C	ENST00000379388.2	+	4	5631	c.5299G>C	c.(5299-5301)Gat>Cat	p.D1767H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1767					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D1767H(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCGGGCCAAAGATGAAAATGG	0.428																																																	1	Substitution - Missense(1)	cervix(1)											98	97	98					6																	12125327		1869	4111	5980	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5299G>C	6.37:g.12125327G>C	ENSP00000368698:p.Asp1767His		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1767H	ENST00000379388.2	37	c.5299	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795512	0.90453	.	.	ENSG00000095951	ENST00000379388	T	0.14266	2.52	5.62	5.62	0.85841	.	0.000000	0.34178	N	0.004198	T	0.34745	0.0908	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06679	-1.0813	9	.	.	.	-20.7234	19.6536	0.95828	0.0:0.0:1.0:0.0	.	1767	P15822	ZEP1_HUMAN	H	1767	ENSP00000368698:D1767H	.	D	+	1	0	HIVEP1	12233313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GAT	HIVEP1	-	NULL		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12125327	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12125327	G	C	12125327	3	2	58	1	0	0	0	0	1	0	0	0	7206	942	33	1	5309	1	HIVEP1	6	12125327	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4542422	12125327	158989740	452	8202										
CCDC90A	63933	genome.wustl.edu	37	chr6	13807193	13807193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacactaaggcatgagtgtCgaagtagagtttcctgctcc	11	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:13807193C>T	ENST00000379170.4	-	2	637	c.499G>A	c.(499-501)Gac>Aac	p.D167N	MCUR1_ENST00000359495.2_Missense_Mutation_p.D167N	NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	167					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)		p.D167N(1)									GCATGAGTGTCGAAGTAGAGT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											180	153	162					6																	13807193		2203	4300	6503	SO:0001583	missense	63933			BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 79", "coiled-coil domain containing 90A"	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.499G>A	6.37:g.13807193C>T	ENSP00000368468:p.Asp167Asn		Q96JS7|Q9H7F8	Missense_Mutation	SNP	pfam_DUF1640	p.D167N	ENST00000379170.4	37	c.499	CCDS35495.1	6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704852	0.88924	.	.	ENSG00000050393	ENST00000379170;ENST00000359495	T;T	0.62788	-0.0;1.06	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83249	-0.0054	10	0.56958	D	0.05	-21.614	15.9613	0.79933	0.0:1.0:0.0:0.0	.	167	Q96AQ8	CC90A_HUMAN	N	167	ENSP00000368468:D167N;ENSP00000352475:D167N	ENSP00000352475:D167N	D	-	1	0	CCDC90A	13915172	1.000000	0.71417	0.999000	0.59377	0.545000	0.35147	5.844000	0.69430	2.483000	0.83821	0.563000	0.77884	GAC	CCDC90A	-	pfam_DUF1640		0.443	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC90A	HGNC	protein_coding	OTTHUMT00000039909.3	C	NM_022102		13807193	-1	no_errors	ENST00000379170	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13807193	C	T	13807193	3	4	58	1	0	0	0	0	1	0	0	0	2873	884	31	1	612	1	CCDC90A	6	13807193	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1681866	13807193	157307874	453	8203										
GMPR	2766	genome.wustl.edu	37	chr6	16295275	16295275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtggaagttccttacaaagGagatgtggaaaacactatcc	10	7	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:16295275G>C	ENST00000259727.4	+	9	1010	c.896G>C	c.(895-897)gGa>gCa	p.G299A	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	299					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.G299A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CCTTACAAAGGAGATGTGGAA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											79	79	79					6																	16295275		2203	4300	6503	SO:0001583	missense	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.896G>C	6.37:g.16295275G>C	ENSP00000259727:p.Gly299Ala		Q96HQ6	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.G299A	ENST00000259727.4	37	c.896	CCDS4537.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043541	0.75732	.	.	ENSG00000137198	ENST00000259727	D	0.94280	-3.39	5.77	5.77	0.91146	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99552	1.0966	10	0.87932	D	0	-17.5382	19.9915	0.97366	0.0:0.0:1.0:0.0	.	299	P36959	GMPR1_HUMAN	A	299	ENSP00000259727:G299A	ENSP00000259727:G299A	G	+	2	0	GMPR	16403254	1.000000	0.71417	0.960000	0.40013	0.221000	0.24807	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	GGA	GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1		0.507	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	G			16295275	1	no_errors	ENST00000259727	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16295275	G	C	16295275	3	2	58	1	0	0	0	0	1	0	0	0	6515	1174	41	1	930	1	GMPR	6	16295275	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2488082	16295275	154819792	454	8204										
FAM65B	9750	genome.wustl.edu	37	chr6	24843776	24843776	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcaaagatgtcatcaggtaGatttgactatagataaaaga	8	4	3	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:24843776G>C	ENST00000259698.4	-	14	1409	c.1234C>G	c.(1234-1236)Cta>Gta	p.L412V	FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000510784.2_Missense_Mutation_p.L396V|FAM65B_ENST00000378023.4_Missense_Mutation_p.L362V|FAM65B_ENST00000540914.1_Missense_Mutation_p.L362V|FAM65B_ENST00000538035.1_Missense_Mutation_p.L391V	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	412					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.L412V(1)|p.L362V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCATCAGGTAGATTTGACTAT	0.423																																																	2	Substitution - Missense(2)	cervix(2)											27	26	26					6																	24843776		1878	4104	5982	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1234C>G	6.37:g.24843776G>C	ENSP00000259698:p.Leu412Val		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L412V	ENST00000259698.4	37	c.1234	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506820	0.44558	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.71581	2.175	0.53005	D	0.999964	D;D;D;D	0.76494	0.999;0.999;0.999;0.964	D;D;D;P	0.87578	0.998;0.998;0.998;0.742	T	0.61013	-0.7148	10	0.25106	T	0.35	-9.2849	5.2821	0.15680	0.252:0.0:0.748:0.0	.	396;391;362;412	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	V	412;391;362;362;396	ENSP00000259698:L412V;ENSP00000441138:L391V;ENSP00000367262:L362V;ENSP00000438425:L362V;ENSP00000441305:L396V	ENSP00000259698:L412V	L	-	1	2	FAM65B	24951755	1.000000	0.71417	0.839000	0.33178	0.472000	0.32918	2.361000	0.44160	2.305000	0.77605	0.561000	0.74099	CTA	FAM65B	-	NULL		0.423	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	G			24843776	-1	no_errors	ENST00000259698	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24843776	G	C	24843776	3	2	58	1	0	0	0	0	1	0	0	0	5618	933	33	1	2022	1	FAM65B	6	24843776	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8548501	24843776	146271291	455	8205										
SLC17A1	6568	genome.wustl.edu	37	chr6	25826704	25826704	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtacctttatattatccagGagcttctttgtggaggtgtt	10	6	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:25826704G>A	ENST00000244527.4	-	3	307	c.192C>T	c.(190-192)ctC>ctT	p.L64L	SLC17A1_ENST00000476801.1_Silent_p.L64L|SLC17A1_ENST00000468082.1_Silent_p.L64L|SLC17A1_ENST00000427328.1_Silent_p.L64L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	64					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L64L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TATTATCCAGGAGCTTCTTTG	0.393																																																	1	Substitution - coding silent(1)	cervix(1)											182	170	174					6																	25826704		2203	4300	6503	SO:0001819	synonymous_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.192C>T	6.37:g.25826704G>A			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt	p.L64	ENST00000244527.4	37	c.192	CCDS4565.1	6																																																																																			SLC17A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt		0.393	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A1	HGNC	protein_coding	OTTHUMT00000043647.2	G			25826704	-1	no_errors	ENST00000244527	ensembl	human	known	70_37	silent	SNP	0.000	A	A	25826704	G	A	25826704	2	1	58	1	0	0	0	0	0	0	0	1	14446	1161	41	1		1	SLC17A1	6	25826704	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	982928	25826704	145288363	456	8206										
HIST1H1A	3024	genome.wustl.edu	37	chr6	26017517	26017517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttttcggagtcttgacgctCtttttgctagcccccgtggc	10	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26017517C>G	ENST00000244573.3	-	1	523	c.444G>C	c.(442-444)aaG>aaC	p.K148N		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	148					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.K148N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TCTTGACGCTCTTTTTGCTAG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											141	150	147					6																	26017517		2203	4300	6503	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.444G>C	6.37:g.26017517C>G	ENSP00000244573:p.Lys148Asn		Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K148N	ENST00000244573.3	37	c.444	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	6.500	0.460520	0.12342	.	.	ENSG00000124610	ENST00000244573	T	0.14516	2.5	4.31	-1.34	0.09143	.	0.480369	0.19100	N	0.122740	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	P	0.46706	0.883	B	0.41860	0.368	T	0.35847	-0.9772	10	0.59425	D	0.04	-8.0238	9.8946	0.41311	0.0:0.6363:0.0:0.3637	.	148	Q02539	H11_HUMAN	N	148	ENSP00000244573:K148N	ENSP00000244573:K148N	K	-	3	2	HIST1H1A	26125496	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.567000	0.05916	-0.158000	0.11040	-0.192000	0.12808	AAG	HIST1H1A	-	NULL		0.483	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	C	NM_005325		26017517	-1	no_errors	ENST00000244573	ensembl	human	known	70_37	missense	SNP	0.024	G	G	26017517	C	G	26017517	3	3	58	1	0	0	0	0	1	0	0	0	7142	912	32	1	207	1	HIST1H1A	6	26017517	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	190813	26017517	145097550	457	8207										
HIST1H4E	8367	genome.wustl.edu	37	chr6	26204984	26204984	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaagcctgccatccggcgcCttgctcgtcgcgggggtgtc	14	16	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26204984C>G	ENST00000360441.4	+	1	127	c.112C>G	c.(112-114)Ctt>Gtt	p.L38V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	38					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CATCCGGCGCCTTGCTCGTCG	0.572																																																	0													86	85	85					6																	26204984		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.112C>G	6.37:g.26204984C>G	ENSP00000353624:p.Leu38Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L38V	ENST00000360441.4	37	c.112	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	13.71	2.317666	0.40996	.	.	ENSG00000198518	ENST00000360441	T	0.64803	-0.12	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000018	T	0.63988	0.2558	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	T	0.70389	-0.4885	7	0.72032	D	0.01	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	V	38	ENSP00000353624:L38V	ENSP00000353624:L38V	L	+	1	0	HIST1H4E	26312963	0.432000	0.25554	0.711000	0.30485	0.013000	0.08279	1.066000	0.30604	1.521000	0.48983	0.655000	0.94253	CTT	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.572	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	C	NM_003545		26204984	1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26204984	C	G	26204984	3	3	58	1	0	0	0	0	1	0	0	0	7189	681	24	4	114	4	HIST1H4E	6	26204984	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	187467	26204984	144910083	458	8208										
HIST1H4F	8361	genome.wustl.edu	37	chr6	26240864	26240864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaatgtgatacgggacgccGtaacctacacggagcacgcc	12	12	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26240864G>A	ENST00000377745.2	+	1	304	c.211G>A	c.(211-213)Gta>Ata	p.V71I		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	71				V -> A (in Ref. 14; AAH67496). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V71I(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACGGGACGCCGTAACCTACAC	0.582																																																	1	Substitution - Missense(1)	cervix(1)											93	78	83					6																	26240864		2203	4300	6503	SO:0001583	missense	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.211G>A	6.37:g.26240864G>A	ENSP00000366974:p.Val71Ile		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V71I	ENST00000377745.2	37	c.211	CCDS4598.1	6	.	.	.	.	.	.	.	.	.	.	.	18.01	3.527847	0.64860	.	.	ENSG00000198327	ENST00000377745	T	0.68903	-0.36	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	.	.	.	0.41798	D	0.989907	.	.	.	.	.	.	T	0.74630	-0.3601	7	0.51188	T	0.08	.	16.4132	0.83726	0.0:0.0:1.0:0.0	.	.	.	.	I	71	ENSP00000366974:V71I	ENSP00000366974:V71I	V	+	1	0	HIST1H4F	26348843	1.000000	0.71417	0.969000	0.41365	0.020000	0.10135	9.222000	0.95196	2.430000	0.82344	0.563000	0.77884	GTA	HIST1H4F	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.582	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	G	NM_003540		26240864	1	no_errors	ENST00000377745	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26240864	G	A	26240864	3	1	58	1	0	0	0	0	1	0	0	0	7190	1145	40	2	213	2	HIST1H4F	6	26240864	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	35880	26240864	144874203	459	8209										
HIST1H2BI	8346	genome.wustl.edu	37	chr6	26273432	26273432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttttcgagcgcattgcaggcGaggcttcccgcctggcgcat	13	13	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26273432G>A	ENST00000377733.2	+	1	289	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587																																																	4	Substitution - Missense(4)	endometrium(2)|urinary_tract(1)|cervix(1)											127	124	125					6																	26273432		2203	4300	6503	SO:0001583	missense	8346			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.229G>A	6.37:g.26273432G>A	ENSP00000366962:p.Glu77Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000377733.2	37	c.229	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	18.04	3.534816	0.64972	.	.	ENSG00000168242	ENST00000377733	T	0.34472	1.36	4.5	4.5	0.54988	.	.	.	.	.	T	0.62258	0.2413	H	0.95780	3.72	0.32958	D	0.52067	.	.	.	.	.	.	T	0.74244	-0.3728	7	0.54805	T	0.06	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	K	77	ENSP00000366962:E77K	ENSP00000366962:E77K	E	+	1	0	HIST1H2BI	26381411	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	7.542000	0.82095	2.058000	0.61347	0.563000	0.77884	GAG	HIST1H2BI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.587	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	HGNC	protein_coding	OTTHUMT00000040111.1	G	NM_003525		26273432	1	no_errors	ENST00000377733	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26273432	G	A	26273432	3	1	58	1	0	0	0	0	1	0	0	0	7168	1059	37	1	231	1	HIST1H2BI	6	26273432	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	32568	26273432	144841635	460	8210										
BTN3A3	10384	genome.wustl.edu	37	chr6	26444366	26444366	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggaagtggaagacaggcaGagtgcaccgtatcgagggag	17	6	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26444366G>A	ENST00000244519.2	+	4	510	c.267G>A	c.(265-267)caG>caA	p.Q89Q	BTN3A3_ENST00000361232.3_Silent_p.Q47Q|BTN3A3_ENST00000339789.4_Silent_p.Q47Q	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	89	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Q89Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AAGACAGGCAGAGTGCACCGT	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											58	48	52					6																	26444366		2203	4297	6500	SO:0001819	synonymous_variant	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.267G>A	6.37:g.26444366G>A			B4DWI7|E9PCP5	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.Q89	ENST00000244519.2	37	c.267	CCDS4611.1	6																																																																																			BTN3A3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.552	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	G	NM_006994		26444366	1	no_errors	ENST00000244519	ensembl	human	known	70_37	silent	SNP	0.274	A	A	26444366	G	A	26444366	2	1	58	1	0	0	0	0	0	0	0	1	1567	933	33	1		1	BTN3A3	6	26444366	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	170934	26444366	144670701	461	8211										
ZFP57	346171	genome.wustl.edu	37	chr6	29643801	29643801	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtcccactcttcctgggtGaaattcactgccacatcctc	6	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:29643801G>T	ENST00000488757.1	-	2	309	c.159C>A	c.(157-159)ttC>ttA	p.F53L	ZFP57_ENST00000376881.3_Missense_Mutation_p.F33L|ZFP57_ENST00000376883.1_Missense_Mutation_p.F33L	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F33L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTTCCTGGGTGAAATTCACTG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											194	217	209					6																	29643801		1380	2660	4040	SO:0001583	missense	346171			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"Zinc fingers, C2H2-type", "-"	18791	protein-coding gene	gene with protein product		612192	"chromosome 6 open reading frame 40", "zinc finger protein 57 homolog (mouse)"	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.159C>A	6.37:g.29643801G>T	ENSP00000418259:p.Phe53Leu		B0S894|B0V254|B2RXJ7|Q5SSB1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F53L	ENST00000488757.1	37	c.159	CCDS43436.2	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942390	0.73672	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.12879	2.64;2.64;2.64	4.68	4.68	0.58851	.	0.000000	0.46442	D	0.000284	T	0.31857	0.0810	M	0.84511	2.7	0.35288	D	0.781917	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.15350	-1.0440	10	0.42905	T	0.14	-19.4323	15.4602	0.75349	0.0:0.0:1.0:0.0	.	53;33	Q9NU63-3;Q9NU63-2	.;.	L	53;33;33	ENSP00000418259:F53L;ENSP00000366078:F33L;ENSP00000366080:F33L	ENSP00000366078:F33L	F	-	3	2	ZFP57	29751780	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	2.778000	0.47726	2.585000	0.87301	0.655000	0.94253	TTC	ZFP57	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.448	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000355773.1	G	XM_294093		29643801	-1	no_errors	ENST00000488757	ensembl	human	known	70_37	missense	SNP	0.996	T	T	29643801	G	T	29643801	3	4	58	1	0	0	0	0	1	0	0	0	17681	1281	45	3	1463	3	ZFP57	6	29643801	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3199435	29643801	141471266	462	8212										
HLA-A	3105	genome.wustl.edu	37	chr6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtcccggcccggccgcgggGagccccgcttcatcgccgtg	15	18	1	0	rs41549014	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	cervix(1)|ovary(1)											23	22	22					6																	29910587		2198	4294	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.127G>T	6.37:g.29910587G>T	ENSP00000379873:p.Glu43*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E43*	ENST00000396634.1	37	c.127	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	38	6.774052	0.97829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.575	0.17374	.	2.237780	0.03383	U	0.200671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3062	0.07001	0.2361:0.0:0.5616:0.2024	.	.	.	.	X	43	.	ENSP00000348012:E43X	E	+	1	0	HLA-A	30018566	0.008000	0.16893	0.000000	0.03702	0.452000	0.32318	0.240000	0.18042	0.004000	0.14682	0.478000	0.44815	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.706	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910587	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	29910587	G	T	29910587	4	4	58	1	0	0	0	0	0	1	0	0	7215	1175	41	3	133	3	HLA-A	6	29910587	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	266786	29910587	141204480	463	8213										
TRIM40	135644	genome.wustl.edu	37	chr6	30114945	30114945	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcagaagcctggtcattgatCtggaaaggacggccaaggaa	13	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:30114945C>T	ENST00000396581.1	+	4	1011	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	TRIM40_ENST00000376724.2_Silent_p.L209L|TRIM40_ENST00000307859.4_Silent_p.L180L			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	209					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)	p.L180L(1)		ovary(1)	1						GGTCATTGATCTGGAAAGGAC	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											131	112	119					6																	30114945		2203	4300	6503	SO:0001819	synonymous_variant	135644			AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.625C>T	6.37:g.30114945C>T			Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.L209	ENST00000396581.1	37	c.625		6																																																																																			TRIM40	-	NULL		0.572	TRIM40-001	KNOWN	basic	protein_coding	TRIM40	HGNC	protein_coding	OTTHUMT00000076117.2	C			30114945	1	no_errors	ENST00000376724	ensembl	human	known	70_37	silent	SNP	0.003	T	T	30114945	C	T	30114945	2	4	58	1	0	0	0	0	0	0	0	1	16546	912	32	1		1	TRIM40	6	30114945	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	204358	30114945	141000122	464	8214										
GNL1	2794	genome.wustl.edu	37	chr6	30522575	30522575	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaagtagctgagtttctcaGaggagtaagccccatgaatc	10	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:30522575G>A	ENST00000376621.3	-	4	1464	c.494C>T	c.(493-495)tCt>tTt	p.S165F	PRR3_ENST00000376557.3_5'Flank|PRR3_ENST00000376560.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	165					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.S165F(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GAGTTTCTCAGAGGAGTAAGC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											114	88	97					6																	30522575		1511	2709	4220	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.494C>T	6.37:g.30522575G>A	ENSP00000365806:p.Ser165Phe		B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain	p.S165F	ENST00000376621.3	37	c.494	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993297	0.74703	.	.	ENSG00000204590	ENST00000376621;ENST00000429126;ENST00000433809	T	0.47177	0.85	5.84	4.92	0.64577	.	0.325270	0.32444	N	0.006090	T	0.34832	0.0911	L	0.47190	1.495	0.47214	D	0.99935	P;P;B	0.43701	0.815;0.529;0.139	B;B;B	0.42916	0.179;0.402;0.037	T	0.29397	-1.0013	10	0.59425	D	0.04	-38.2732	14.6794	0.69006	0.0:0.0:0.854:0.1459	.	163;27;165	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	F	165;27;163	ENSP00000365806:S165F	ENSP00000365806:S165F	S	-	2	0	GNL1	30630554	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	5.065000	0.64344	2.765000	0.95021	0.655000	0.94253	TCT	GNL1	-	NULL		0.493	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	G			30522575	-1	no_errors	ENST00000376621	ensembl	human	known	70_37	missense	SNP	0.996	A	A	30522575	G	A	30522575	3	1	58	1	0	0	0	0	1	0	0	0	6554	942	33	1	1365	1	GNL1	6	30522575	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	407630	30522575	140592492	465	8215										
VARS2	57176	genome.wustl.edu	37	chr6	30889913	30889913	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accccagaccttgctcgtttCtaccccctgtcacttttgga	6	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:30889913C>G	ENST00000321897.5	+	19	2459	c.1827C>G	c.(1825-1827)ttC>ttG	p.F609L	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.F609L|VARS2_ENST00000541562.1_Missense_Mutation_p.F639L|VARS2_ENST00000542001.1_Missense_Mutation_p.F469L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	609					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.F609L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTGCTCGTTTCTACCCCCTGT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											83	96	91					6																	30889913		1508	2708	4216	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1827C>G	6.37:g.30889913C>G	ENSP00000316092:p.Phe609Leu		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.F639L	ENST00000321897.5	37	c.1917	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151501	0.57151	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.14	3.37	0.38596	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	M	0.67569	2.06	0.41080	D	0.985519	B;B;P	0.49358	0.216;0.18;0.923	B;B;P	0.54706	0.376;0.259;0.759	T	0.02339	-1.1174	10	0.87932	D	0	-27.3064	6.8316	0.23913	0.0:0.723:0.0:0.277	.	607;639;609	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	L	609;609;469;639	ENSP00000316092:F609L;ENSP00000394802:F609L;ENSP00000438200:F469L;ENSP00000441000:F639L	ENSP00000316092:F609L	F	+	3	2	VARS2	30997892	1.000000	0.71417	0.998000	0.56505	0.676000	0.39594	2.133000	0.42093	0.759000	0.33084	0.561000	0.74099	TTC	VARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase		0.632	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	C	NM_020442		30889913	1	no_errors	ENST00000541562	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30889913	C	G	30889913	3	3	58	1	0	0	0	0	1	0	0	0	17155	912	32	1	1995	1	VARS2	6	30889913	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	367338	30889913	140225154	466	8216										
RDBP	7936	genome.wustl.edu	37	chr6	31926158	31926158	+	Silent	SNP	G	G	C													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtccctcacctttttcttGagcttgttgaatttcttctg					rs148391435	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:31926158G>C	ENST00000375429.3	-	2	292	c.66C>G	c.(64-66)ctC>ctG	p.L22L	MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000375394.2_5'Flank|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000444811.2_Silent_p.L22L|NELFE_ENST00000375425.5_Silent_p.L29L	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	22					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L22L(1)									CCTTTTTCTTGAGCTTGTTGA	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											231	200	211					6																	31926158		1511	2709	4220	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.66C>G	6.37:g.31926158G>C			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L22	ENST00000375429.3	37	c.66	CCDS4730.1	6																																																																																			RDBP	-	NULL		0.522	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	G			31926158	-1	no_errors	ENST00000375429	ensembl	human	known	70_37	silent	SNP	1.000	C	C	31926158	G	C	31926158	2	2	58	1	0	0	0	0	0	0	0	1	13218	1277	45	1		1	RDBP	6	31926158	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1036245	31926158	139188909	467	8217	41	2								
RDBP	7936	genome.wustl.edu	37	chr6	31926167	31926167	+	Silent	SNP	G	G	A													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctttttcttgagcttgttGaatttcttctgcagagcctc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:31926167G>A	ENST00000375429.3	-	2	283	c.57C>T	c.(55-57)ttC>ttT	p.F19F	MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000375394.2_5'Flank|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000444811.2_Silent_p.F19F|NELFE_ENST00000375425.5_Silent_p.F26F	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	19					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F19F(1)									TGAGCTTGTTGAATTTCTTCT	0.527																																																	1	Substitution - coding silent(1)	cervix(1)											230	201	211					6																	31926167		1511	2709	4220	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.57C>T	6.37:g.31926167G>A			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F19	ENST00000375429.3	37	c.57	CCDS4730.1	6																																																																																			RDBP	-	NULL		0.527	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	G			31926167	-1	no_errors	ENST00000375429	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31926167	G	A	31926167	2	1	58	1	0	0	0	0	0	0	0	1	13218	1281	45	1		1	RDBP	6	31926167	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9	31926167	139188900	468	8218	41	2								
TNXB	7148	genome.wustl.edu	37	chr6	32065772	32065772	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgggtgaataccacctgcttCtcccctccttccactgtgtg	8	15	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:32065772C>G	ENST00000479795.1	-	2	344	c.204G>C	c.(202-204)gaG>gaC	p.E68D	TNXB_ENST00000375247.2_Missense_Mutation_p.E68D|TNXB_ENST00000375244.3_Missense_Mutation_p.E68D			P22105	TENX_HUMAN	tenascin XB	68					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.E68D(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTGCTTCTCCCCTCCTT	0.657																																																	2	Substitution - Missense(2)	cervix(2)											32	35	34					6																	32065772		1914	4108	6022	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.204G>C	6.37:g.32065772C>G	ENSP00000418248:p.Glu68Asp		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E68D	ENST00000479795.1	37	c.204		6	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712631	0.68730	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.94046	0.15;-0.02;-3.34	4.63	-0.585	0.11698	.	0.000000	0.44483	D	0.000441	D	0.91178	0.7221	L	0.56124	1.755	0.24110	N	0.995842	D	0.67145	0.996	D	0.76071	0.987	D	0.85416	0.1140	10	0.40728	T	0.16	.	8.633	0.33930	0.0:0.5143:0.0:0.4857	.	68	P22105-3	.	D	68	ENSP00000364393:E68D;ENSP00000364396:E68D;ENSP00000418248:E68D	ENSP00000364393:E68D	E	-	3	2	TNXB	32173750	0.964000	0.33143	0.998000	0.56505	0.998000	0.95712	0.048000	0.14078	-0.026000	0.13895	0.561000	0.74099	GAG	TNXB	-	NULL		0.657	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	C	NM_019105		32065772	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.997	G	G	32065772	C	G	32065772	3	3	58	1	0	0	0	0	1	0	0	0	16376	912	32	1	14681	1	TNXB	6	32065772	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	139605	32065772	139049295	469	8219										
HLA-DMB	3109	genome.wustl.edu	37	chr6	32905079	32905079	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctccattgggctgggcagtCttgtgcgcactgctgtgagg	15	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:32905079C>G	ENST00000418107.2	-	3	754	c.492G>C	c.(490-492)aaG>aaC	p.K164N	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.K164N	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	164	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.K164N(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCTGGGCAGTCTTGTGCGCAC	0.547																																																	2	Substitution - Missense(2)	cervix(2)											176	130	146					6																	32905079		2203	4300	6503	SO:0001583	missense	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.492G>C	6.37:g.32905079C>G	ENSP00000398890:p.Lys164Asn		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.K164N	ENST00000418107.2	37	c.492	CCDS4760.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.754|6.754	0.507937|0.507937	0.12883|0.12883	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000414017|ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244	.|T;T;T	.|0.02916	.|4.11;4.11;4.11	4.56|4.56	0.49|0.49	0.16861|0.16861	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|2.114420	.|0.01818	.|N	.|0.033878	T|T	0.00784|0.00784	0.0026|0.0026	N|N	0.17564|0.17564	0.495|0.495	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32862	.|0.054;0.387;0.005;0.062;0.387	.|B;B;B;B;B	.|0.31547	.|0.013;0.132;0.02;0.049;0.132	T|T	0.44757|0.44757	-0.9307|-0.9307	5|10	.|0.62326	.|D	.|0.03	.|.	5.4244|5.4244	0.16417|0.16417	0.527:0.3747:0.0:0.0983|0.527:0.3747:0.0:0.0983	.|.	.|164;164;46;53;164	.|E9PD01;A2AAT3;B0V061;B0V062;P28068	.|.;.;.;.;DMB_HUMAN	H|N	54|46;164;164;164	.|ENSP00000390848:K46N;ENSP00000398890:K164N;ENSP00000391010:K164N	.|ENSP00000391010:K164N	D|K	-|-	1|3	0|2	HLA-DMB|HLA-DMB	33013057|33013057	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.239000|0.239000	0.25481|0.25481	0.140000|0.140000	0.16056|0.16056	0.194000|0.194000	0.20326|0.20326	0.494000|0.494000	0.49563|0.49563	GAC|AAG	HLA-DMB	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.547	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	C	NM_002118		32905079	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	missense	SNP	0.000	G	G	32905079	C	G	32905079	3	3	58	1	0	0	0	0	1	0	0	0	7219	912	32	1	315	1	HLA-DMB	6	32905079	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	839307	32905079	138209988	470	8220										
HLA-DPB1	3115	genome.wustl.edu	37	chr6	33054002	33054002	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctttcatttcagttcaacGaggatctgcataaacaggta	8	8	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33054002G>C	ENST00000418931.2	+	5	880	c.764G>C	c.(763-765)cGa>cCa	p.R255P		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)	p.R255P(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TCAGTTCAACGAGGATCTGCA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											180	193	189					6																	33054002		2203	4300	6503	SO:0001583	missense	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.764G>C	6.37:g.33054002G>C	ENSP00000408146:p.Arg255Pro		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.R255P	ENST00000418931.2	37	c.764	CCDS4765.1	6	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362124	0.41902	.	.	ENSG00000223865	ENST00000418931;ENST00000411942	T	0.00642	6.02	2.85	-3.15	0.05233	.	0.893166	0.08576	U	0.925351	T	0.00210	0.0006	N	0.14661	0.345	0.09310	N	1	P	0.51057	0.941	P	0.49252	0.604	T	0.46247	-0.9205	10	0.66056	D	0.02	.	0.6619	0.00844	0.3889:0.1699:0.2692:0.1719	.	255	P04440	DPB1_HUMAN	P	255;225	ENSP00000408146:R255P	ENSP00000389210:R225P	R	+	2	0	HLA-DPB1	33161980	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-0.663000	0.05299	-0.829000	0.04268	0.573000	0.79308	CGA	HLA-DPB1	-	NULL		0.418	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	G	NM_002121		33054002	1	no_errors	ENST00000418931	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33054002	G	C	33054002	3	2	58	1	0	0	0	0	1	0	0	0	7223	1058	37	1	782	1	HLA-DPB1	6	33054002	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	148923	33054002	138061065	471	8221										
COL11A2	6257	genome.wustl.edu	37	chr6	33159972	33159972	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcgctcagccccagcaccaGaggtaggaggaggaggaggc	17	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33159972G>C	ENST00000374680.3	-	0	2908				COL11A2_ENST00000374714.1_Missense_Mutation_p.L16V|COL11A2_ENST00000374713.1_Missense_Mutation_p.L16V|COL11A2_ENST00000374708.4_Missense_Mutation_p.L16V|COL11A2_ENST00000357486.1_Missense_Mutation_p.L16V|COL11A2_ENST00000395197.1_Missense_Mutation_p.L16V|COL11A2_ENST00000374712.1_Missense_Mutation_p.L16V|COL11A2_ENST00000361917.1_Missense_Mutation_p.L16V|COL11A2_ENST00000341947.2_Missense_Mutation_p.L16V|COL11A2_ENST00000395194.1_Missense_Mutation_p.L16V	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L16V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCAGCACCAGAGGTAGGAGG	0.677																																																	1	Substitution - Missense(1)	cervix(1)											9	7	8					6																	33159972		1476	2675	4151	SO:0001628	intergenic_variant	1302			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298		6.37:g.33159972G>C			P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.L16V	ENST00000374680.3	37	c.46	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728488	0.69074	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	D;D;D;D;D;D;D;D;D;T	0.91521	-2.62;-2.52;-2.63;-2.62;-2.52;-2.52;-2.62;-2.53;-2.86;1.43	5.12	4.24	0.50183	.	0.102078	0.40144	U	0.001162	D	0.85792	0.5779	N	0.16266	0.395	0.28864	N	0.895352	D;D;D;P	0.71674	0.998;0.974;0.974;0.956	D;D;D;D	0.74674	0.984;0.953;0.953;0.931	T	0.80303	-0.1439	10	0.44086	T	0.13	.	10.0471	0.42192	0.0972:0.0:0.9028:0.0	.	16;16;16;16	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	V	16	ENSP00000363840:L16V;ENSP00000339915:L16V;ENSP00000350079:L16V;ENSP00000363846:L16V;ENSP00000363845:L16V;ENSP00000378623:L16V;ENSP00000363844:L16V;ENSP00000355123:L16V;ENSP00000405520:L16V;ENSP00000378620:L16V	ENSP00000339915:L16V	L	-	1	2	COL11A2	33267950	0.997000	0.39634	0.955000	0.39395	0.990000	0.78478	1.623000	0.37008	2.370000	0.80446	0.549000	0.68633	CTG	COL11A2	-	NULL		0.677	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076642.2	G	NM_021976		33159972	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	0.954	C	C	33159972	G	C	33159972	1	2	58	0	1	0	0	0	0	0	0	0	3673	933	33	1		1	COL11A2	6	33159972	IGR	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	105970	33159972	137955095	472	8222										
RGL2	5863	genome.wustl.edu	37	chr6	33264531	33264531	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagctcggagccgtcgggagGaacgtgggggaggcataggg	21	8	0	0	rs367652018		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33264531G>C	ENST00000497454.1	-	4	758	c.263C>G	c.(262-264)tCc>tGc	p.S88C	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.S6C	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	88	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S88C(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGTCGGGAGGAACGTGGGGG	0.577																																																	1	Substitution - Missense(1)	cervix(1)						G	CYS/SER	0,4406		0,0,2203	51	56	54		263	1.1	0.8	6		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	RGL2	NM_004761.4	112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	88/778	33264531	1,13005	2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.263C>G	6.37:g.33264531G>C	ENSP00000420211:p.Ser88Cys		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S88C	ENST00000497454.1	37	c.263	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999316	0.19121	0.0	1.16E-4	ENSG00000237441	ENST00000497454;ENST00000444031;ENST00000425946	T;T;T	0.32272	1.46;1.46;1.46	4.22	1.15	0.20763	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.346678	0.27388	N	0.019587	T	0.07458	0.0188	N	0.22421	0.69	0.29612	N	0.846889	B;B	0.15930	0.015;0.001	B;B	0.11329	0.006;0.002	T	0.24440	-1.0160	10	0.87932	D	0	.	7.5428	0.27748	0.0:0.3336:0.4935:0.1729	.	6;88	B4DG72;O15211	.;RGL2_HUMAN	C	88;6;88	ENSP00000420211:S88C;ENSP00000403070:S6C;ENSP00000392918:S88C	ENSP00000392918:S88C	S	-	2	0	RGL2	33372509	1.000000	0.71417	0.791000	0.31998	0.846000	0.48090	1.582000	0.36568	0.393000	0.25203	0.643000	0.83706	TCC	RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.577	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33264531	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	0.994	C	C	33264531	G	C	33264531	3	2	58	1	0	0	0	0	1	0	0	0	13307	1174	41	1	2130	1	RGL2	6	33264531	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	104559	33264531	137850536	473	8223										
SYNGAP1	8831	genome.wustl.edu	37	chr6	33402938	33402938	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcctgccagggcccggctGatgcaaagctttaaggagtc	13	12	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33402938G>A	ENST00000418600.2	+	6	620	c.519G>A	c.(517-519)ctG>ctA	p.L173L	SYNGAP1_ENST00000428982.2_Silent_p.L114L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.L173L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	173	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.L173L(1)|p.L158L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGGCCCGGCTGATGCAAAGCT	0.473																																																	2	Substitution - coding silent(2)	cervix(2)											99	95	96					6																	33402938		2203	4300	6503	SO:0001819	synonymous_variant	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.519G>A	6.37:g.33402938G>A			A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L173	ENST00000418600.2	37	c.519	CCDS34434.2	6																																																																																			SYNGAP1	-	smart_Pleckstrin_homology		0.473	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33402938	1	no_errors	ENST00000418600	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33402938	G	A	33402938	2	1	58	1	0	0	0	0	0	0	0	1	15477	1277	45	1		1	SYNGAP1	6	33402938	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	138407	33402938	137712129	474	8224										
RPS10	6204	genome.wustl.edu	37	chr6	34386188	34386188	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagccccagcctcggctttCttgtcggcaccagctagaaa	9	16	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:34386188C>G	ENST00000326199.8	-	5	507	c.414G>C	c.(412-414)aaG>aaC	p.K138N	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.K138N|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.K138N	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	138					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.K138N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						CCTCGGCTTTCTTGTCGGCAC	0.448																																					Colon(121;749 1624 4895 8687 22360)												1	Substitution - Missense(1)	cervix(1)											72	70	70					6																	34386188		2203	4300	6503	SO:0001583	missense	6204			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.414G>C	6.37:g.34386188C>G	ENSP00000347271:p.Lys138Asn		B2R4E3|Q5TZC0	Missense_Mutation	SNP	pfam_S10_plectin_N	p.K138N	ENST00000326199.8	37	c.414	CCDS4792.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113994	0.77210	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78481	-1.16;-1.18	4.87	3.98	0.46160	.	0.202673	0.43747	D	0.000525	D	0.84942	0.5584	H	0.94808	3.585	0.80722	D	1	D	0.59767	0.986	P	0.52514	0.701	D	0.88658	0.3187	10	0.72032	D	0.01	-14.2067	12.87	0.57960	0.0:0.9204:0.0:0.0796	.	138	P46783	RS10_HUMAN	N	138	ENSP00000347271:K138N;ENSP00000363169:K138N	ENSP00000347271:K138N	K	-	3	2	RPS10	34494166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.961000	0.40432	2.393000	0.81446	0.591000	0.81541	AAG	RPS10	-	NULL		0.448	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS10	HGNC	protein_coding	OTTHUMT00000040230.1	C			34386188	-1	no_errors	ENST00000326199	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34386188	C	G	34386188	3	3	58	1	0	0	0	0	1	0	0	0	13650	912	32	1	91	1	RPS10	6	34386188	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	983250	34386188	136728879	475	8225										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34826826	34826826	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgatgctgactctgcaggctCagatagcactagcctcgtag	11	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:34826826C>T	ENST00000192788.5	+	14	2864	c.2693C>T	c.(2692-2694)tCa>tTa	p.S898L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S898L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	898							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.S898L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCTGCAGGCTCAGATAGCACT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											49	49	49					6																	34826826		2047	4221	6268	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2693C>T	6.37:g.34826826C>T	ENSP00000192788:p.Ser898Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.S898L	ENST00000192788.5	37	c.2693	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294550	0.60086	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.19806	2.12;2.12	5.7	5.7	0.88788	.	0.333388	0.29537	N	0.011865	T	0.13157	0.0319	L	0.43152	1.355	0.52501	D	0.999954	B	0.06786	0.001	B	0.08055	0.003	T	0.02190	-1.1198	10	0.45353	T	0.12	-8.2252	19.8338	0.96646	0.0:1.0:0.0:0.0	.	898	Q6BDS2	URFB1_HUMAN	L	898	ENSP00000192788:S898L;ENSP00000400628:S898L	ENSP00000192788:S898L	S	+	2	0	UHRF1BP1	34934804	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.638000	0.67861	2.692000	0.91855	0.591000	0.81541	TCA	UHRF1BP1	-	NULL		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34826826	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34826826	C	T	34826826	3	4	58	1	0	0	0	0	1	0	0	0	16999	838	29	1	2747	1	UHRF1BP1	6	34826826	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	440638	34826826	136288241	476	8226										
ANKS1A	23294	genome.wustl.edu	37	chr6	34985727	34985727	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctctgatctcctgacctgctCacccacagaggacgctacca	7	17	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:34985727C>T	ENST00000360359.3	+	11	2039	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	634					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.S634L(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGACCTGCTCACCCACAGAG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											160	171	167					6																	34985727		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1901C>T	6.37:g.34985727C>T	ENSP00000353518:p.Ser634Leu		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S634L	ENST00000360359.3	37	c.1901	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567671	0.65651	.	.	ENSG00000064999	ENST00000360359	T	0.40225	1.04	5.27	5.27	0.74061	.	0.000000	0.42548	D	0.000697	T	0.56124	0.1964	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.57359	-0.7825	10	0.62326	D	0.03	-8.5701	19.2541	0.93938	0.0:1.0:0.0:0.0	.	634	Q92625	ANS1A_HUMAN	L	634	ENSP00000353518:S634L	ENSP00000353518:S634L	S	+	2	0	ANKS1A	35093705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.607000	0.88179	0.655000	0.94253	TCA	ANKS1A	-	NULL		0.572	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	C	XM_166478		34985727	1	no_errors	ENST00000360359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34985727	C	T	34985727	3	4	58	1	0	0	0	0	1	0	0	0	688	838	29	1	1943	1	ANKS1A	6	34985727	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	158901	34985727	136129340	477	8227										
ANKS1A	23294	genome.wustl.edu	37	chr6	35046359	35046359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctaatgtgatggaagagcagGacctgcgggacatcggcatc	14	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35046359G>A	ENST00000360359.3	+	14	2347	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	737	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.D737N(1)|p.D63N(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGAAGAGCAGGACCTGCGGGA	0.652																																																	2	Substitution - Missense(2)	cervix(2)											113	112	112					6																	35046359		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2209G>A	6.37:g.35046359G>A	ENSP00000353518:p.Asp737Asn		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D737N	ENST00000360359.3	37	c.2209	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595915	0.86953	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	D	0.87179	-2.22	4.81	4.81	0.61882	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46145	D	0.000306	D	0.94338	0.8180	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.95617	0.8677	10	0.87932	D	0	-23.1718	17.4882	0.87694	0.0:0.0:1.0:0.0	.	63;63;737	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	N	737;63	ENSP00000353518:D737N	ENSP00000353518:D737N	D	+	1	0	ANKS1A	35154337	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	7.793000	0.85851	2.195000	0.70347	0.563000	0.77884	GAC	ANKS1A	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.652	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	G	XM_166478		35046359	1	no_errors	ENST00000360359	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35046359	G	A	35046359	3	1	58	1	0	0	0	0	1	0	0	0	688	1174	41	1	2263	1	ANKS1A	6	35046359	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	60632	35046359	136068708	478	8228										
ZNF76	7629	genome.wustl.edu	37	chr6	35260389	35260389	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaacgcttcaccgagtactcGagcttgtataagcaccacgt	8	12	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35260389G>A	ENST00000373953.3	+	10	1256	c.990G>A	c.(988-990)tcG>tcA	p.S330S	ZNF76_ENST00000440666.2_Silent_p.S304S|ZNF76_ENST00000339411.5_Silent_p.S330S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	330					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S330S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCGAGTACTCGAGCTTGTATA	0.622																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												1	Substitution - coding silent(1)	cervix(1)											98	71	80					6																	35260389		2203	4300	6503	SO:0001819	synonymous_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.990G>A	6.37:g.35260389G>A			Q9BQB2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S330	ENST00000373953.3	37	c.990	CCDS4801.1	6																																																																																			ZNF76	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.622	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	G	NM_003427		35260389	1	no_errors	ENST00000373953	ensembl	human	known	70_37	silent	SNP	0.003	A	A	35260389	G	A	35260389	2	1	58	1	0	0	0	0	0	0	0	1	18165	1045	37	1		1	ZNF76	6	35260389	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	214030	35260389	135854678	479	8229										
FKBP5	2289	genome.wustl.edu	37	chr6	35587911	35587911	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcacacacatacttgcctCaaaaaagagagttgcattcg	6	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35587911C>G	ENST00000539068.1	-	4	593	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	FKBP5_ENST00000536438.1_Missense_Mutation_p.E131Q|FKBP5_ENST00000357266.4_Missense_Mutation_p.E131Q|FKBP5_ENST00000542713.1_Missense_Mutation_p.E131Q|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	131					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E131Q(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATACTTGCCTCAAAAAAGAGA	0.448																																																	2	Substitution - Missense(2)	cervix(2)											129	111	117					6																	35587911		2203	4300	6503	SO:0001583	missense	2289			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.391G>C	6.37:g.35587911C>G	ENSP00000441205:p.Glu131Gln		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E131Q	ENST00000539068.1	37	c.391	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391101	0.82902	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.45	5.45	0.79879	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.93016	3.37	0.80722	D	1	P;P	0.46987	0.888;0.887	P;B	0.51079	0.658;0.437	T	0.78537	-0.2166	10	0.54805	T	0.06	-6.4889	19.6597	0.95861	0.0:1.0:0.0:0.0	.	131;131	F5H7R1;Q13451	.;FKBP5_HUMAN	Q	131;131;131;131;94;131;129	ENSP00000444810:E131Q;ENSP00000349811:E131Q;ENSP00000441205:E131Q;ENSP00000442340:E131Q	ENSP00000338160:E131Q	E	-	1	0	FKBP5	35695889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.507000	0.60434	2.708000	0.92522	0.650000	0.86243	GAG	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.448	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	C			35587911	-1	no_errors	ENST00000337746	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35587911	C	G	35587911	3	3	58	1	0	0	0	0	1	0	0	0	5929	835	29	1	1072	1	FKBP5	6	35587911	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	327522	35587911	135527156	480	8230										
SLC26A8	116369	genome.wustl.edu	37	chr6	35928783	35928783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagtacctgtgtgaacgaaCagtggtgatgaagaaagcag	13	5	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35928783C>T	ENST00000490799.1	-	13	1908	c.1555G>A	c.(1555-1557)Gtt>Att	p.V519I	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V519I|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V414I	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V519I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTGAACGAACAGTGGTGATG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											142	125	131					6																	35928783		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1555G>A	6.37:g.35928783C>T	ENSP00000417638:p.Val519Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V519I	ENST00000490799.1	37	c.1555	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815690	0.32145	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94828	-3.18;-3.53;-3.18	5.94	3.14	0.36123	.	0.295281	0.29266	N	0.012652	T	0.78597	0.4308	L	0.28054	0.825	0.18873	N	0.999983	P;B;B	0.35192	0.489;0.216;0.347	B;B;B	0.32465	0.068;0.122;0.146	T	0.69383	-0.5160	10	0.20046	T	0.44	.	8.7315	0.34503	0.0:0.6376:0.2846:0.0778	.	519;414;101	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	I	519;414;519	ENSP00000417638:V519I;ENSP00000378100:V414I;ENSP00000347778:V519I	ENSP00000347778:V519I	V	-	1	0	SLC26A8	36036761	0.106000	0.21978	0.066000	0.19879	0.826000	0.46750	0.306000	0.19279	0.379000	0.24794	0.650000	0.86243	GTT	SLC26A8	-	NULL		0.423	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	C			35928783	-1	no_errors	ENST00000355574	ensembl	human	known	70_37	missense	SNP	0.499	T	T	35928783	C	T	35928783	3	4	58	1	0	0	0	0	1	0	0	0	14553	478	17	4	1389	4	SLC26A8	6	35928783	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	340872	35928783	135186284	481	8231										
BRPF3	27154	genome.wustl.edu	37	chr6	36168470	36168470	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagcttccgtatggtggactCaggcatccagccagaagcac	11	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:36168470C>G	ENST00000357641.6	+	2	624	c.371C>G	c.(370-372)tCa>tGa	p.S124*	BRPF3_ENST00000443324.2_Nonsense_Mutation_p.S124*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.S124*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.S124*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.S124*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.S124*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	124					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.S124*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATGGTGGACTCAGGCATCCAG	0.542																																																	1	Substitution - Nonsense(1)	cervix(1)											90	85	87					6																	36168470		2203	4300	6503	SO:0001587	stop_gained	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.371C>G	6.37:g.36168470C>G	ENSP00000350267:p.Ser124*		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.S124*	ENST00000357641.6	37	c.371	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075242	0.55646	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	.	.	.	5.31	4.44	0.53790	.	0.423933	0.25804	N	0.028187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.7853	0.63105	0.0:0.9258:0.0:0.0742	.	.	.	.	X	124	.	ENSP00000345419:S124X	S	+	2	0	BRPF3	36276448	0.070000	0.21116	0.988000	0.46212	0.982000	0.71751	1.869000	0.39519	1.253000	0.44018	0.558000	0.71614	TCA	BRPF3	-	pfam_Enhancer_polycomb-like_N		0.542	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	C	NM_015695		36168470	1	no_errors	ENST00000357641	ensembl	human	known	70_37	nonsense	SNP	0.269	G	G	36168470	C	G	36168470	4	3	58	1	0	0	0	0	0	1	0	0	1524	838	29	1	373	1	BRPF3	6	36168470	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	239687	36168470	134946597	482	8232										
DNAH8	1769	genome.wustl.edu	37	chr6	38738332	38738332	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctttttgcaaaagactggaGaaggtaagcattatgcagtc	11	6	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:38738332G>C	ENST00000359357.3	+	10	1364	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	DNAH8_ENST00000449981.2_Missense_Mutation_p.E587D|DNAH8_ENST00000441566.1_Missense_Mutation_p.E370D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	370					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.E370D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGACTGGAGAAGGTAAGCA	0.363																																																	2	Substitution - Missense(2)	cervix(2)											41	39	40					6																	38738332		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1110G>C	6.37:g.38738332G>C	ENSP00000352312:p.Glu370Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E370D	ENST00000359357.3	37	c.1110		6	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769310	0.31320	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55052	0.54;0.54;0.54	5.27	2.5	0.30297	Dynein heavy chain, domain-1 (1);	0.060689	0.64402	D	0.000005	T	0.18551	0.0445	L	0.38692	1.165	0.45962	D	0.998784	B	0.17038	0.02	B	0.24701	0.055	T	0.05903	-1.0857	10	0.13470	T	0.59	.	6.265	0.20922	0.3966:0.0:0.6034:0.0	.	370	Q96JB1	DYH8_HUMAN	D	575;575;370;370	ENSP00000333363:E575D;ENSP00000352312:E370D;ENSP00000402294:E370D	ENSP00000333363:E575D	E	+	3	2	DNAH8	38846310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.107000	0.41844	0.725000	0.32318	-0.152000	0.13540	GAG	DNAH8	-	pfam_Dynein_heavy_dom-1		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38738332	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38738332	G	C	38738332	3	2	58	1	0	0	0	0	1	0	0	0	4617	933	33	1	1140	1	DNAH8	6	38738332	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2569862	38738332	132376735	483	8233										
LRFN2	57497	genome.wustl.edu	37	chr6	40400385	40400385	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccatggaggttgttgtaggaGaggtccagatcctccaatgt	13	8	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:40400385G>C	ENST00000338305.6	-	2	1010	c.468C>G	c.(466-468)ctC>ctG	p.L156L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	156						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L156L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTGTAGGAGAGGTCCAGAT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											72	71	71					6																	40400385		2203	4300	6503	SO:0001819	synonymous_variant	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.468C>G	6.37:g.40400385G>C			A5PKU3|Q5SYP9	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L156	ENST00000338305.6	37	c.468	CCDS34443.1	6																																																																																			LRFN2	-	smart_Leu-rich_rpt_typical-subtyp		0.582	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	G	XM_166372		40400385	-1	no_errors	ENST00000338305	ensembl	human	known	70_37	silent	SNP	0.980	C	C	40400385	G	C	40400385	2	2	58	1	0	0	0	0	0	0	0	1	8961	929	33	1		1	LRFN2	6	40400385	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1662053	40400385	130714682	484	8234										
NFYA	4800	genome.wustl.edu	37	chr6	41060708	41060708	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaatccctctacctggagcaGagatgcttgaagaagagcct	11	10	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:41060708G>A	ENST00000341376.6	+	8	973	c.772G>A	c.(772-774)Gag>Aag	p.E258K	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.E229K	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	258					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E258K(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCTGGAGCAGAGATGCTTGA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											113	106	108					6																	41060708		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.772G>A	6.37:g.41060708G>A	ENSP00000345702:p.Glu258Lys		Q8IXU0	Missense_Mutation	SNP	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.E258K	ENST00000341376.6	37	c.772	CCDS4849.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.170033	0.97343	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.988	D;P	0.64877	0.93;0.85	T	0.73094	-0.4091	9	0.62326	D	0.03	-11.9488	19.211	0.93755	0.0:0.0:1.0:0.0	.	229;258	P23511-2;P23511	.;NFYA_HUMAN	K	258;229	.	ENSP00000345702:E258K	E	+	1	0	NFYA	41168686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.789000	0.95967	0.655000	0.94253	GAG	NFYA	-	NULL		0.488	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1	G			41060708	1	no_errors	ENST00000341376	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41060708	G	A	41060708	3	1	58	1	0	0	0	0	1	0	0	0	10413	943	33	1	798	1	NFYA	6	41060708	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	660323	41060708	130054359	485	8235										
KIAA0240	23506	genome.wustl.edu	37	chr6	42819892	42819892	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccaagaccacagacggcctGaggcaagcacagatccctgg	11	15	0	4	rs200632198		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:42819892G>C	ENST00000314073.5	+	7	2078	c.1902G>C	c.(1900-1902)ctG>ctC	p.L634L	GLTSCR1L_ENST00000394168.1_Silent_p.L634L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	634								p.L634L(1)									CAGACGGCCTGAGGCAAGCAC	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											95	82	86					6																	42819892		2203	4300	6503	SO:0001819	synonymous_variant	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1902G>C	6.37:g.42819892G>C			A1L3W2|Q5TFZ3|Q92514	Silent	SNP	NULL	p.L634	ENST00000314073.5	37	c.1902	CCDS34451.1	6																																																																																			KIAA0240	-	NULL		0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	G	NM_015349		42819892	1	no_errors	ENST00000314073	ensembl	human	known	70_37	silent	SNP	1.000	C	C	42819892	G	C	42819892	2	2	58	1	0	0	0	0	0	0	0	1	8184	1277	45	1		1	KIAA0240	6	42819892	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1759184	42819892	128295175	486	8236										
CUL9	23113	genome.wustl.edu	37	chr6	43184222	43184222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgacctgccctctctctgctGcatgcactattgctgtaagg	9	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43184222G>A	ENST00000252050.4	+	31	6347	c.6263G>A	c.(6262-6264)tGc>tAc	p.C2088Y	CUL9_ENST00000372647.2_Missense_Mutation_p.C2060Y|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.C1978Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2088					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.C2088Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTCTCTGCTGCATGCACTAT	0.592																																																	1	Substitution - Missense(1)	cervix(1)											97	96	96					6																	43184222		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6263G>A	6.37:g.43184222G>A	ENSP00000252050:p.Cys2088Tyr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.C2088Y	ENST00000252050.4	37	c.6263	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525584	0.85600	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	D;D;D	0.92545	-3.06;-3.06;-2.93	5.7	5.7	0.88788	Zinc finger, RING-type (1);	0.205890	0.50627	D	0.000118	D	0.95793	0.8631	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.95699	0.8747	10	0.87932	D	0	-21.3632	19.8405	0.96681	0.0:0.0:1.0:0.0	.	1978;2060;2088	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Y	2088;1978;2060	ENSP00000252050:C2088Y;ENSP00000346490:C1978Y;ENSP00000361730:C2060Y	ENSP00000252050:C2088Y	C	+	2	0	CUL9	43292200	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	TGC	CUL9	-	NULL		0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43184222	1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43184222	G	A	43184222	3	1	58	1	0	0	0	0	1	0	0	0	4066	1319	46	4	6381	4	CUL9	6	43184222	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	364330	43184222	127930845	487	8237										
TTBK1	84630	genome.wustl.edu	37	chr6	43250774	43250774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggaggaagaagaggaggagGaggaagaggaggaggaggct	23	1	0	3	rs547218408		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43250774G>A	ENST00000259750.4	+	14	2379	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	766	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E766K(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			agaggaggaggaggaagagga	0.597													G|||	1	0.000199681	0	0	5008	,	,		16622	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											14	13	14					6																	43250774		2199	4294	6493	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2296G>A	6.37:g.43250774G>A	ENSP00000259750:p.Glu766Lys		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.E766K	ENST00000259750.4	37	c.2296	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407803	0.25378	.	.	ENSG00000146216	ENST00000259750	T	0.33654	1.4	4.53	4.53	0.55603	.	0.182469	0.22768	U	0.055869	T	0.11965	0.0291	N	0.22421	0.69	0.80722	D	1	B	0.31100	0.308	B	0.20955	0.032	T	0.05566	-1.0877	10	0.22706	T	0.39	.	16.0142	0.80425	0.0:0.0:1.0:0.0	.	766	Q5TCY1	TTBK1_HUMAN	K	766	ENSP00000259750:E766K	ENSP00000259750:E766K	E	+	1	0	TTBK1	43358752	0.985000	0.35326	0.109000	0.21407	0.135000	0.20990	5.067000	0.64357	2.044000	0.60594	0.555000	0.69702	GAG	TTBK1	-	NULL		0.597	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43250774	1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	0.904	A	A	43250774	G	A	43250774	3	1	58	1	0	0	0	0	1	0	0	0	16707	1175	41	1	2346	1	TTBK1	6	43250774	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	66552	43250774	127864293	488	8238										
ZNF318	24149	genome.wustl.edu	37	chr6	43322623	43322623	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggcattatcctgtgtggttCaggtacagggtggtttgacg	15	6	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43322623C>G	ENST00000361428.2	-	4	2526	c.2449G>C	c.(2449-2451)Gaa>Caa	p.E817Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.E817Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	817					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E817Q(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTGTGGTTCAGGTACAGGG	0.507																																																	1	Substitution - Missense(1)	cervix(1)											378	314	335					6																	43322623		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2449G>C	6.37:g.43322623C>G	ENSP00000354964:p.Glu817Gln		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.E817Q	ENST00000361428.2	37	c.2449	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944002	0.53079	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.34072	1.38;2.58	5.98	5.11	0.69529	.	0.526840	0.22134	N	0.064158	T	0.13586	0.0329	N	0.14661	0.345	0.29547	N	0.851639	P	0.50272	0.933	P	0.44359	0.447	T	0.04005	-1.0985	10	0.25751	T	0.34	-3.6967	14.6335	0.68673	0.0:0.9307:0.0:0.0693	.	817	Q5VUA4	ZN318_HUMAN	Q	817	ENSP00000323032:E817Q;ENSP00000354964:E817Q	ENSP00000323032:E817Q	E	-	1	0	ZNF318	43430601	1.000000	0.71417	0.898000	0.35279	0.572000	0.35998	3.564000	0.53791	2.838000	0.97847	0.655000	0.94253	GAA	ZNF318	-	NULL		0.507	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43322623	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	0.912	G	G	43322623	C	G	43322623	3	3	58	1	0	0	0	0	1	0	0	0	17866	835	29	1	4418	1	ZNF318	6	43322623	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	71849	43322623	127792444	489	8239										
GTPBP2	54676	genome.wustl.edu	37	chr6	43591477	43591477	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caagcaagacaatttacctgGaaagtgttcctccaacaaca	6	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43591477G>C	ENST00000307126.5	-	9	1291	c.1292C>G	c.(1291-1293)tCc>tGc	p.S431C	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.S343C	NM_019096.3	NP_061969.3			GTP binding protein 2									p.S431C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AATTTACCTGGAAAGTGTTCC	0.502																																					GBM(116;405 1620 28302 32150 44768)												1	Substitution - Missense(1)	cervix(1)											116	109	111					6																	43591477		2203	4300	6503	SO:0001583	missense	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1292C>G	6.37:g.43591477G>C	ENSP00000303997:p.Ser431Cys			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.S431C	ENST00000307126.5	37	c.1292	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672678	0.47781	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548	T;T	0.30981	1.51;1.51	5.8	5.8	0.92144	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.057350	0.64402	D	0.000001	T	0.16171	0.0389	L	0.37697	1.125	0.52501	D	0.999956	B;P	0.46277	0.012;0.875	B;B	0.40702	0.004;0.338	T	0.01375	-1.1371	10	0.38643	T	0.18	.	14.8391	0.70209	0.0:0.0:0.8562:0.1438	.	423;431	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	C	73;431;343;27	ENSP00000303997:S431C;ENSP00000304893:S343C	ENSP00000304893:S343C	S	-	2	0	GTPBP2	43699455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.930000	0.75858	2.749000	0.94314	0.655000	0.94253	TCC	GTPBP2	-	superfamily_Transl_elong_init/rib_B-barrel		0.502	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	G			43591477	-1	no_errors	ENST00000307126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43591477	G	C	43591477	3	2	58	1	0	0	0	0	1	0	0	0	6900	1174	41	1	532	1	GTPBP2	6	43591477	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	268854	43591477	127523590	490	8240										
GSTA3	2940	genome.wustl.edu	37	chr6	52761709	52761709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcaccgtgggcaggttgctGattctggttttcagggcctg	14	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:52761709G>A	ENST00000211122.3	-	7	629	c.564C>T	c.(562-564)atC>atT	p.I188I	GSTA3_ENST00000370968.1_Silent_p.I138I	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	188	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.I188I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GCAGGTTGCTGATTCTGGTTT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											85	84	85					6																	52761709		2203	4300	6503	SO:0001819	synonymous_variant	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.564C>T	6.37:g.52761709G>A			O43468|Q068V6|Q8WWA8|Q9H415	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.I188	ENST00000211122.3	37	c.564	CCDS4947.1	6																																																																																			GSTA3	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.507	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	G			52761709	-1	no_errors	ENST00000211122	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52761709	G	A	52761709	2	1	58	1	0	0	0	0	0	0	0	1	6852	1280	45	1		1	GSTA3	6	52761709	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9170232	52761709	118353358	491	8241										
LRRC1	55227	genome.wustl.edu	37	chr6	53778727	53778727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggatacctgcagaggtgtcaCaggcaacagaacttcatgtc	11	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:53778727C>G	ENST00000370888.1	+	11	1343	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	356						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q356E(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGAGGTGTCACAGGCAACAGA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											80	80	80					6																	53778727		1991	4167	6158	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1066C>G	6.37:g.53778727C>G	ENSP00000359925:p.Gln356Glu		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q356E	ENST00000370888.1	37	c.1066	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284604	0.40394	.	.	ENSG00000137269	ENST00000370888	T	0.75938	-0.98	4.74	4.74	0.60224	.	0.075455	0.53938	D	0.000049	T	0.43853	0.1266	L	0.28115	0.83	0.80722	D	1	B	0.27229	0.172	B	0.27380	0.079	T	0.40794	-0.9544	10	0.13108	T	0.6	.	12.0459	0.53479	0.1722:0.8278:0.0:0.0	.	356	Q9BTT6	LRRC1_HUMAN	E	356	ENSP00000359925:Q356E	ENSP00000359925:Q356E	Q	+	1	0	LRRC1	53886686	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.406000	0.66357	2.466000	0.83321	0.655000	0.94253	CAG	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp		0.468	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	C	NM_025168		53778727	1	no_errors	ENST00000370888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53778727	C	G	53778727	3	3	58	1	0	0	0	0	1	0	0	0	8989	479	17	4	1108	4	LRRC1	6	53778727	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1017018	53778727	117336340	492	8242										
FAM83B	222584	genome.wustl.edu	37	chr6	54735070	54735070	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacctcatcaatgctttcctCattgaatgatgagtgtaaat	7	8	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:54735070C>T	ENST00000306858.7	+	2	142	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	9								p.S9L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATGCTTTCCTCATTGAATGAT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											139	120	126					6																	54735070		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.26C>T	6.37:g.54735070C>T	ENSP00000304078:p.Ser9Leu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S9L	ENST00000306858.7	37	c.26	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891417	0.91889	.	.	ENSG00000168143	ENST00000306858	T	0.17691	2.26	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28870	-1.0030	10	0.62326	D	0.03	-17.6023	18.8374	0.92168	0.0:1.0:0.0:0.0	.	9	Q5T0W9	FA83B_HUMAN	L	9	ENSP00000304078:S9L	ENSP00000304078:S9L	S	+	2	0	FAM83B	54843029	1.000000	0.71417	0.850000	0.33497	0.994000	0.84299	5.516000	0.67055	2.525000	0.85131	0.467000	0.42956	TCA	FAM83B	-	NULL		0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	C	XM_294139		54735070	1	no_errors	ENST00000306858	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54735070	C	T	54735070	3	4	58	1	0	0	0	0	1	0	0	0	5652	838	29	1	28	1	FAM83B	6	54735070	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	956343	54735070	116379997	493	8243										
PHF3	23469	genome.wustl.edu	37	chr6	64395258	64395258	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaaattttcataggccagtCaaagtcagaaaaaaacaaat	5	7	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:64395258C>G	ENST00000262043.3	+	4	1975	c.1635C>G	c.(1633-1635)gtC>gtG	p.V545V	PHF3_ENST00000393387.1_Silent_p.V545V|PHF3_ENST00000509330.1_Silent_p.V545V			Q92576	PHF3_HUMAN	PHD finger protein 3	545					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V545V(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGGCCAGTCAAAGTCAGAA	0.328																																					GBM(135;136 1820 29512 34071 46235)												1	Substitution - coding silent(1)	cervix(1)											52	55	54					6																	64395258		2203	4298	6501	SO:0001819	synonymous_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1635C>G	6.37:g.64395258C>G			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.V545	ENST00000262043.3	37	c.1635	CCDS4966.1	6																																																																																			PHF3	-	NULL		0.328	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	C			64395258	1	no_errors	ENST00000262043	ensembl	human	known	70_37	silent	SNP	0.988	G	G	64395258	C	G	64395258	2	3	58	1	0	0	0	0	0	0	0	1	11860	813	29	1		1	PHF3	6	64395258	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9660188	64395258	106719809	494	8244										
LMBRD1	55788	genome.wustl.edu	37	chr6	70500257	70500257	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actggtagaagtgctgatgtGataagtgcaattgctagaga	13	4	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:70500257G>C	ENST00000370577.3	-	2	406	c.177C>G	c.(175-177)atC>atG	p.I59M	LMBRD1_ENST00000370570.1_De_novo_Start_InFrame	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	59					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.I59M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						GTGCTGATGTGATAAGTGCAA	0.338																																																	1	Substitution - Missense(1)	cervix(1)											105	111	109					6																	70500257		2203	4300	6503	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.177C>G	6.37:g.70500257G>C	ENSP00000359609:p.Ile59Met		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.I59M	ENST00000370577.3	37	c.177	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730089	0.30684	.	.	ENSG00000168216	ENST00000370577	T	0.16743	2.32	5.93	5.06	0.68205	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	N	0.25647	0.755	0.80722	D	1	P	0.34934	0.476	B	0.33196	0.159	T	0.35475	-0.9787	10	0.23302	T	0.38	-11.1251	11.259	0.49071	0.19:0.0:0.81:0.0	.	59	Q9NUN5	LMBD1_HUMAN	M	59	ENSP00000359609:I59M	ENSP00000359609:I59M	I	-	3	3	LMBRD1	70556978	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.066000	0.30604	1.503000	0.48686	0.655000	0.94253	ATC	LMBRD1	-	pfam_LMBR1-like_membr_prot		0.338	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	G	NM_018368		70500257	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70500257	G	C	70500257	3	2	58	1	0	0	0	0	1	0	0	0	8863	1280	45	1	1505	1	LMBRD1	6	70500257	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6104999	70500257	100614810	495	8245										
RARS2	57038	genome.wustl.edu	37	chr6	88265199	88265199	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taatccatattttgagccatCttcaattacttgttgtagca	5	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:88265199C>G	ENST00000369536.5	-	5	367	c.322G>C	c.(322-324)Gat>Cat	p.D108H		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	108					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.D108H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTTGAGCCATCTTCAATTACT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											104	100	102					6																	88265199		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.322G>C	6.37:g.88265199C>G	ENSP00000358549:p.Asp108His		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.D108H	ENST00000369536.5	37	c.322	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.131507|3.131507	0.56828|0.56828	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000369536;ENST00000369523|ENST00000451155	T|.	0.72835|.	-0.69|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Arginyl tRNA synthetase, class Ia, N-terminal (2);|.	0.143591|.	0.64402|.	D|.	0.000009|.	T|T	0.70107|0.70107	0.3186|0.3186	M|M	0.69523|0.69523	2.12|2.12	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.22851|.	0.076|.	B|.	0.28139|.	0.086|.	T|T	0.68217|0.68217	-0.5467|-0.5467	10|5	0.72032|.	D|.	0.01|.	.|.	18.5727|18.5727	0.91142|0.91142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|.	Q5T160|.	SYRM_HUMAN|.	H|N	108;135|135	ENSP00000358549:D108H|.	ENSP00000358536:D135H|.	D|K	-|-	1|3	0|2	RARS2|RARS2	88321918|88321918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.805000|2.805000	0.47939|0.47939	2.676000|2.676000	0.91093|0.91093	0.586000|0.586000	0.80456|0.80456	GAT|AAG	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.338	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265199	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88265199	C	G	88265199	3	3	58	1	0	0	0	0	1	0	0	0	13089	913	32	1	1478	1	RARS2	6	88265199	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	17764942	88265199	82849868	496	8246										
PM20D2	135293	genome.wustl.edu	37	chr6	89862863	89862863	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctggcctataacaatctgtCtgtgttcagacagcaaatga	9	9	3	2	rs538893425	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:89862863C>T	ENST00000275072.4	+	3	811	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	239						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.S239F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AACAATCTGTCTGTGTTCAGA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											104	93	97					6																	89862863		2203	4300	6503	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.716C>T	6.37:g.89862863C>T	ENSP00000275072:p.Ser239Phe		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.S239F	ENST00000275072.4	37	c.716	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365563	0.61513	.	.	ENSG00000146281	ENST00000275072	T	0.58060	0.36	5.69	5.69	0.88448	Peptidase M20, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84666	0.0709	10	0.87932	D	0	-12.8172	19.8165	0.96571	0.0:1.0:0.0:0.0	.	239	Q8IYS1	P20D2_HUMAN	F	239	ENSP00000275072:S239F	ENSP00000275072:S239F	S	+	2	0	PM20D2	89919582	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	7.050000	0.76620	2.683000	0.91414	0.655000	0.94253	TCT	PM20D2	-	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred		0.398	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	C	NM_001010853		89862863	1	no_errors	ENST00000275072	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89862863	C	T	89862863	3	4	58	1	0	0	0	0	1	0	0	0	12153	913	32	1	726	1	PM20D2	6	89862863	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1597664	89862863	81252204	497	8247										
GABRR1	2569	genome.wustl.edu	37	chr6	89895170	89895170	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcatcttctgtataggcatCtgaaaagacaggggccagca	11	9	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:89895170C>T	ENST00000454853.2	-	7	766		c.e7-1		GABRR1_ENST00000435811.1_Splice_Site|GABRR1_ENST00000369451.3_Splice_Site	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTATAGGCATCTGAAAAGACA	0.498																																																	1	Unknown(1)	cervix(1)											141	128	132					6																	89895170		2203	4300	6503	SO:0001630	splice_region_variant	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.656-1G>A	6.37:g.89895170C>T			A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Splice_Site	SNP	-	e7-1	ENST00000454853.2	37	c.656-1	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023515	0.54683	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4576	0.94900	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRR1	89951889	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	7.445000	0.80570	2.680000	0.91292	0.561000	0.74099	.	GABRR1	-	-		0.498	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	C		Intron	89895170	-1	no_errors	ENST00000454853	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	89895170	C	T	89895170	5	4	58	1	0	0	0	0	0	0	1	0	6194	927	32	1	800	1	GABRR1	6	89895170	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	32307	89895170	81219897	498	8248										
KIAA0776	23376	genome.wustl.edu	37	chr6	96971061	96971061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attgagattgttaataaattGattgctcagaaacagctaga	8	4	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:96971061G>A	ENST00000369278.4	+	2	183	c.117G>A	c.(115-117)ttG>ttA	p.L39L	UFL1-AS1_ENST00000430796.1_RNA	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	39	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.L39L(1)									TTAATAAATTGATTGCTCAGA	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											125	126	126					6																	96971061		2203	4300	6503	SO:0001819	synonymous_variant	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.117G>A	6.37:g.96971061G>A			A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	pfam_E3_UFM1_ligase_1	p.L39	ENST00000369278.4	37	c.117	CCDS5034.1	6																																																																																			UFL1	-	pfam_E3_UFM1_ligase_1		0.378	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	G	NM_015323		96971061	1	no_errors	ENST00000369278	ensembl	human	known	70_37	silent	SNP	1.000	A	A	96971061	G	A	96971061	2	1	58	1	0	0	0	0	0	0	0	1	8213	1281	45	1		1	KIAA0776	6	96971061	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7075891	96971061	74144006	499	8249										
AIM1	202	genome.wustl.edu	37	chr6	106960255	106960255	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggccgtaggtcggggaggcgGagggggtcgcagaaatccac	20	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:106960255G>T	ENST00000369066.3	+	1	526	c.39G>T	c.(37-39)cgG>cgT	p.R13R		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R13R(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CGGGGAGGCGGAGGGGGTCGC	0.672																																																	1	Substitution - coding silent(1)	cervix(1)											16	19	18					6																	106960255		2191	4262	6453	SO:0001819	synonymous_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.39G>T	6.37:g.106960255G>T			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R13	ENST00000369066.3	37	c.39	CCDS34506.1	6																																																																																			AIM1	-	NULL		0.672	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106960255	1	no_errors	ENST00000369066	ensembl	human	known	70_37	silent	SNP	1.000	T	T	106960255	G	T	106960255	2	4	58	1	0	0	0	0	0	0	0	1	430	1161	41	3		3	AIM1	6	106960255	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9989194	106960255	64154812	500	8250										
NR2E1	7101	genome.wustl.edu	37	chr6	108497812	108497812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggccgccgcgcactttccctCggcggcgctccctgcgccgg	14	20	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:108497812C>T	ENST00000368986.4	+	4	1073	c.365C>T	c.(364-366)tCg>tTg	p.S122L	NR2E1_ENST00000368983.3_Missense_Mutation_p.S159L|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	122					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S122L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CACTTTCCCTCGGCGGCGCTC	0.711																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											21	23	22					6																	108497812		2202	4296	6498	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.365C>T	6.37:g.108497812C>T	ENSP00000357982:p.Ser122Leu		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S122L	ENST00000368986.4	37	c.365	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194267	0.58017	.	.	ENSG00000112333	ENST00000368986;ENST00000368983;ENST00000426403	T;T	0.53206	0.63;0.63	5.76	5.76	0.90799	Nuclear hormone receptor, ligand-binding (1);	0.280655	0.41605	D	0.000857	T	0.26593	0.0650	L	0.29908	0.895	0.46376	D	0.999019	B	0.27700	0.186	B	0.19148	0.024	T	0.04635	-1.0937	10	0.44086	T	0.13	.	19.9625	0.97256	0.0:1.0:0.0:0.0	.	122	Q9Y466	NR2E1_HUMAN	L	122;159;40	ENSP00000357982:S122L;ENSP00000357979:S159L	ENSP00000357979:S159L	S	+	2	0	NR2E1	108604505	0.992000	0.36948	0.819000	0.32651	0.555000	0.35460	5.826000	0.69293	2.726000	0.93360	0.655000	0.94253	TCG	NR2E1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.711	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	C			108497812	1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	0.726	T	T	108497812	C	T	108497812	3	4	58	1	0	0	0	0	1	0	0	0	10649	893	31	1	379	1	NR2E1	6	108497812	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1537557	108497812	62617255	501	8251										
FIG4	9896	genome.wustl.edu	37	chr6	110037666	110037666	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcatgtctatactcaacaaGaagtaagggaacttcttggc	9	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:110037666G>A	ENST00000230124.3	+	3	308	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_5'Flank	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	62					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.E62K(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TACTCAACAAGAAGTAAGGGA	0.373																																																	1	Substitution - Missense(1)	cervix(1)											102	99	100					6																	110037666		2203	4300	6503	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.184G>A	6.37:g.110037666G>A	ENSP00000230124:p.Glu62Lys		Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.E62K	ENST00000230124.3	37	c.184	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637460	0.87760	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.75938	0.3;-0.98	5.66	4.77	0.60923	.	0.059830	0.64402	D	0.000003	D	0.82820	0.5120	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	P	0.62560	0.904	D	0.86500	0.1803	10	0.72032	D	0.01	-26.7389	15.4072	0.74887	0.0:0.0:0.8595:0.1405	.	62	Q92562	FIG4_HUMAN	K	62;41	ENSP00000230124:E62K;ENSP00000412156:E41K	ENSP00000230124:E62K	E	+	1	0	FIG4	110144359	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	7.170000	0.77587	1.364000	0.46038	0.585000	0.79938	GAA	FIG4	-	NULL		0.373	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110037666	1	no_errors	ENST00000230124	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110037666	G	A	110037666	3	1	58	1	0	0	0	0	1	0	0	0	5906	943	33	1	194	1	FIG4	6	110037666	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1539854	110037666	61077401	502	8252										
LAMA4	3910	genome.wustl.edu	37	chr6	112439102	112439102	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaactgtagatggagttaatCtgagggaagaagatatttct	11	3	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:112439102C>G	ENST00000230538.7	-	35	5219		c.e35-1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGAGTTAATCTGAGGGAAGA	0.448																																																	1	Unknown(1)	cervix(1)											74	73	73					6																	112439102		2203	4300	6503	SO:0001630	splice_region_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4822-1G>C	6.37:g.112439102C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	-	e34-1	ENST00000230538.7	37	c.4822-1	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253302	0.59212	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6091	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112545795	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	6.975000	0.76128	2.650000	0.89964	0.655000	0.94253	.	LAMA4	-	-		0.448	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206	Intron	112439102	-1	no_errors	ENST00000230538	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	112439102	C	G	112439102	5	3	58	1	0	0	0	0	0	0	1	0	8628	927	32	1	670	1	LAMA4	6	112439102	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2401436	112439102	58675965	503	8253										
GPRC6A	222545	genome.wustl.edu	37	chr6	117113846	117113846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgccaaatgcaagtatggatCcctcctcacactccaggatg	8	13	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:117113846C>T	ENST00000310357.3	-	6	2261	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G676E|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G572E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	747					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G747E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGTATGGATCCCTCCTCACA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											63	61	61					6																	117113846		2203	4300	6503	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2240G>A	6.37:g.117113846C>T	ENSP00000309493:p.Gly747Glu		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.G747E	ENST00000310357.3	37	c.2240	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719899	0.68844	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.88741	-2.42;-2.42;-2.42	4.37	4.37	0.52481	GPCR, family 3, C-terminal (2);	0.000000	0.52532	D	0.000062	D	0.94725	0.8298	M	0.88906	2.99	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.964;0.999;0.999	D	0.95570	0.8637	10	0.72032	D	0.01	.	17.0959	0.86635	0.0:1.0:0.0:0.0	.	676;572;747	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	E	747;676;572	ENSP00000309493:G747E;ENSP00000357537:G676E;ENSP00000433465:G572E	ENSP00000309493:G747E	G	-	2	0	GPRC6A	117220539	1.000000	0.71417	0.954000	0.39281	0.915000	0.54546	5.623000	0.67757	2.270000	0.75569	0.591000	0.81541	GGA	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_vmron_rcpt_2		0.453	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	C			117113846	-1	no_errors	ENST00000310357	ensembl	human	known	70_37	missense	SNP	0.998	T	T	117113846	C	T	117113846	3	4	58	1	0	0	0	0	1	0	0	0	6748	855	30	1	544	1	GPRC6A	6	117113846	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4674744	117113846	54001221	504	8254										
GJA1	2697	genome.wustl.edu	37	chr6	121768311	121768311	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgcgaaaggaagagaaactGaacaagaaagaggaagaact	12	4	0	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:121768311G>A	ENST00000282561.3	+	2	475	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	106			L -> P (in ODDD). {ECO:0000269|PubMed:19338053}.|L -> R (in ODDD). {ECO:0000269|PubMed:24508941}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.L106L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AAGAGAAACTGAACAAGAAAG	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											94	83	87					6																	121768311		2203	4300	6503	SO:0001819	synonymous_variant	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.318G>A	6.37:g.121768311G>A			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.L106	ENST00000282561.3	37	c.318	CCDS5123.1	6																																																																																			GJA1	-	pfam_Connexin_N		0.443	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	G	NM_000165		121768311	1	no_errors	ENST00000282561	ensembl	human	known	70_37	silent	SNP	1.000	A	A	121768311	G	A	121768311	2	1	58	1	0	0	0	0	0	0	0	1	6419	1277	45	1		1	GJA1	6	121768311	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4654465	121768311	49346756	505	8255										
GJA1	2697	genome.wustl.edu	37	chr6	121768436	121768436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcatggtaaggtgaaaatgcGaggggggttgctgcgaacct	17	6	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:121768436G>A	ENST00000282561.3	+	2	600	c.443G>A	c.(442-444)cGa>cAa	p.R148Q		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	148			R -> Q (in dbSNP:rs2228960). {ECO:0000269|PubMed:14729836}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.R148Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GTGAAAATGCGAGGGGGGTTG	0.453																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM040077	GJA1	M							121	116	118					6																	121768436		2203	4300	6503	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.443G>A	6.37:g.121768436G>A	ENSP00000282561:p.Arg148Gln		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.R148Q	ENST00000282561.3	37	c.443	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	G	9.845	1.192005	0.21954	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97352	-4.35	5.42	4.55	0.56014	.	0.056566	0.64402	D	0.000003	D	0.89058	0.6607	L	0.35542	1.07	0.43652	D	0.996068	P	0.42203	0.773	B	0.29785	0.107	D	0.88685	0.3205	10	0.30854	T	0.27	.	14.0937	0.65006	0.0725:0.0:0.9275:0.0	.	148	P17302	CXA1_HUMAN	Q	132;148	ENSP00000282561:R148Q	ENSP00000282561:R148Q	R	+	2	0	GJA1	121810135	1.000000	0.71417	0.870000	0.34147	0.100000	0.18952	7.628000	0.83189	1.314000	0.45095	0.460000	0.39030	CGA	GJA1	-	NULL		0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	G	NM_000165		121768436	1	no_errors	ENST00000282561	ensembl	human	known	70_37	missense	SNP	0.995	A	A	121768436	G	A	121768436	3	1	58	1	0	0	0	0	1	0	0	0	6419	1058	37	1	445	1	GJA1	6	121768436	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	125	121768436	49346631	506	8256										
RSPO3	84870	genome.wustl.edu	37	chr6	127469843	127469843	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggctgtgcaacatgctcaGattacaatggatgtttgtca	11	7	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:127469843G>C	ENST00000356698.4	+	2	737	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RSPO3_ENST00000368317.3_Missense_Mutation_p.D50H|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	50					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.D50H(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AACATGCTCAGATTACAATGG	0.413																																																	1	Substitution - Missense(1)	cervix(1)											157	144	148					6																	127469843		2203	4299	6502	SO:0001583	missense	84870			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.148G>C	6.37:g.127469843G>C	ENSP00000349131:p.Asp50His		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.D50H	ENST00000356698.4	37	c.148	CCDS5135.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357395	0.82243	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.80824	-1.42;-1.42	5.93	5.06	0.68205	Growth factor, receptor (1);	0.086812	0.85682	D	0.000000	D	0.84502	0.5486	M	0.80422	2.495	0.49915	D	0.999833	D;P	0.65815	0.995;0.93	P;P	0.56514	0.8;0.557	D	0.86950	0.2085	10	0.62326	D	0.03	-13.4711	14.9691	0.71220	0.0681:0.0:0.9319:0.0	.	50;50	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	50	ENSP00000349131:D50H;ENSP00000357300:D50H	ENSP00000349131:D50H	D	+	1	0	RSPO3	127511536	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.636000	0.83301	1.516000	0.48900	0.655000	0.94253	GAT	RSPO3	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.413	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO3	HGNC	protein_coding	OTTHUMT00000042111.1	G	NM_032784		127469843	1	no_errors	ENST00000368317	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127469843	G	C	127469843	3	2	58	1	0	0	0	0	1	0	0	0	13741	942	33	1	154	1	RSPO3	6	127469843	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5701407	127469843	43645224	507	8257										
THEMIS	387357	genome.wustl.edu	37	chr6	128150975	128150975	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tagttttatatccttctgatGatagaagcaaggatgcccta	8	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:128150975G>A	ENST00000368248.2	-	3	503	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.H84Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H119Y|THEMIS_ENST00000368250.1_Missense_Mutation_p.H40Y	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	119	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H119Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCCTTCTGATGATAGAAGCAA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											96	96	96					6																	128150975		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.355C>T	6.37:g.128150975G>A	ENSP00000357231:p.His119Tyr		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.H119Y	ENST00000368248.2	37	c.355	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847568	0.32606	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	6.14	5.27	0.74061	.	0.159689	0.49916	D	0.000125	T	0.07458	0.0188	L	0.57536	1.79	0.26701	N	0.971165	B;P	0.39157	0.241;0.662	B;B	0.42138	0.046;0.377	T	0.20405	-1.0276	10	0.62326	D	0.03	-1.4936	6.0059	0.19547	0.1447:0.0:0.6046:0.2507	.	119;119	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Y	40;119;119;84	ENSP00000357233:H40Y;ENSP00000439594:H119Y;ENSP00000357231:H119Y;ENSP00000439863:H84Y	ENSP00000357231:H119Y	H	-	1	0	THEMIS	128192668	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.922000	0.40045	1.623000	0.50342	0.650000	0.86243	CAT	THEMIS	-	NULL		0.388	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		G	NM_001010923		128150975	-1	no_errors	ENST00000543064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128150975	G	A	128150975	3	1	58	1	0	0	0	0	1	0	0	0	15890	1290	45	1	1707	1	THEMIS	6	128150975	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	681132	128150975	42964092	508	8258										
L3MBTL3	84456	genome.wustl.edu	37	chr6	130374065	130374065	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagaagatcctaagtgtagtCggaagaaaaaaccaaaatta	8	5	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:130374065C>A	ENST00000529410.1	+	9	990	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	L3MBTL3_ENST00000533560.1_Silent_p.R146R|L3MBTL3_ENST00000368136.2_Silent_p.R171R|L3MBTL3_ENST00000526019.1_Silent_p.R146R|L3MBTL3_ENST00000361794.2_Silent_p.R171R|L3MBTL3_ENST00000368139.2_Silent_p.R146R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	171					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R171R(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TAAGTGTAGTCGGAAGAAAAA	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											102	90	94					6																	130374065		2203	4300	6503	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.511C>A	6.37:g.130374065C>A			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R171	ENST00000529410.1	37	c.511	CCDS34537.1	6																																																																																			L3MBTL3	-	NULL		0.423	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130374065	1	no_errors	ENST00000361794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130374065	C	A	130374065	2	1	58	1	0	0	0	0	0	0	0	1	8613	875	31	3		3	L3MBTL3	6	130374065	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2223090	130374065	40741002	509	8259										
TAAR5	9038	genome.wustl.edu	37	chr6	132910460	132910460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaatgaaacagagatggaaGatggaggtgaggcagaagag	17	2	0	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:132910460G>A	ENST00000258034.2	-	1	417	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	122					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.I122I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGAGATGGAAGATGGAGGTGA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											127	135	132					6																	132910460		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.366C>T	6.37:g.132910460G>A			D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.I122	ENST00000258034.2	37	c.366	CCDS5156.1	6																																																																																			TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.572	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	G	NM_003967		132910460	-1	no_errors	ENST00000258034	ensembl	human	known	70_37	silent	SNP	0.999	A	A	132910460	G	A	132910460	2	1	58	1	0	0	0	0	0	0	0	1	15521	932	33	1		1	TAAR5	6	132910460	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2536395	132910460	38204607	510	8260										
TCF21	6943	genome.wustl.edu	37	chr6	134210781	134210781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggaagcaggtccagcgcaaCgccgccaacgcgcgagagcg	16	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:134210781C>T	ENST00000367882.4	+	1	506	c.246C>T	c.(244-246)aaC>aaT	p.N82N	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.N82N|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.N82N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701																																																	1	Substitution - coding silent(1)	cervix(1)											43	50	48					6																	134210781		2203	4299	6502	SO:0001819	synonymous_variant	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.246C>T	6.37:g.134210781C>T			E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.N82	ENST00000367882.4	37	c.246	CCDS5167.1	6																																																																																			TCF21	-	pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom		0.701	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	C	NM_198392		134210781	1	no_errors	ENST00000237316	ensembl	human	known	70_37	silent	SNP	0.999	T	T	134210781	C	T	134210781	2	4	58	1	0	0	0	0	0	0	0	1	15721	535	19	2		2	TCF21	6	134210781	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1300321	134210781	36904286	511	8261										
ALDH8A1	64577	genome.wustl.edu	37	chr6	135239582	135239582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacggtgatggttttgatctCagtgaagaagtcgtaagagt	13	4	1	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:135239582C>T	ENST00000265605.2	-	7	1503	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.E429K|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.E425K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	479					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.E479K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTTTGATCTCAGTGAAGAAG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											126	126	126					6																	135239582		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1435G>A	6.37:g.135239582C>T	ENSP00000265605:p.Glu479Lys		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E479K	ENST00000265605.2	37	c.1435	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.729543	0.96856	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.31769	1.48;1.48;1.48	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.69523	2.12	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.73708	0.981;0.948;0.969	T	0.51204	-0.8735	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	429;425;479	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	K	479;425;429	ENSP00000265605:E479K;ENSP00000356819:E425K;ENSP00000356821:E429K	ENSP00000265605:E479K	E	-	1	0	ALDH8A1	135281275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.710000	0.84655	2.879000	0.98667	0.650000	0.86243	GAG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.493	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	C			135239582	-1	no_errors	ENST00000265605	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135239582	C	T	135239582	3	4	58	1	0	0	0	0	1	0	0	0	505	835	29	1	32	1	ALDH8A1	6	135239582	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1028801	135239582	35875485	512	8262										
MAP3K5	4217	genome.wustl.edu	37	chr6	136934380	136934380	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accccatttggaacgaaggaGagcagaaagacttcctgtaa	10	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:136934380G>A	ENST00000359015.4	-	17	2653	c.2293C>T	c.(2293-2295)Ctc>Ttc	p.L765F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.L12F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.L765F(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAACGAAGGAGAGCAGAAAGA	0.318																																																	1	Substitution - Missense(1)	cervix(1)											88	83	84					6																	136934380		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2293C>T	6.37:g.136934380G>A	ENSP00000351908:p.Leu765Phe		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L765F	ENST00000359015.4	37	c.2293	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191578	0.58017	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66638	-0.22;-0.22	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.64676	1.99	0.80722	D	1	P;D	0.89917	0.691;1.0	P;D	0.91635	0.5;0.999	T	0.78380	-0.2226	10	0.62326	D	0.03	.	19.7547	0.96285	0.0:0.0:1.0:0.0	.	845;765	Q59GL6;Q99683	.;M3K5_HUMAN	F	765;12;845	ENSP00000351908:L765F;ENSP00000348104:L12F	ENSP00000348104:L12F	L	-	1	0	MAP3K5	136976073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.311000	0.72835	2.667000	0.90743	0.655000	0.94253	CTC	MAP3K5	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136934380	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136934380	G	A	136934380	3	1	58	1	0	0	0	0	1	0	0	0	9276	942	33	1	1887	1	MAP3K5	6	136934380	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1694798	136934380	34180687	513	8263										
PERP	64065	genome.wustl.edu	37	chr6	138428294	138428294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggctctgacagccctcctCgtaggacccgctgccgccgc	12	18	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:138428294C>T	ENST00000421351.3	-	1	354	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	62					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)		p.E62K(1)		breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CAGCCCTCCTCGTAGGACCCG	0.726																																																	1	Substitution - Missense(1)	cervix(1)											29	36	33					6																	138428294		2194	4286	6480	SO:0001583	missense	64065			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.184G>A	6.37:g.138428294C>T	ENSP00000397157:p.Glu62Lys		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.E62K	ENST00000421351.3	37	c.184	CCDS5188.1	6	.	.	.	.	.	.	.	.	.	.	c	5.491	0.275638	0.10403	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.87029	-2.2	4.43	4.43	0.53597	.	2.783770	0.01168	N	0.006807	T	0.71134	0.3304	L	0.40543	1.245	0.09310	N	1	B	0.20988	0.05	B	0.17433	0.018	T	0.58869	-0.7560	10	0.24483	T	0.36	-1.7024	8.4723	0.32993	0.0:0.8904:0.0:0.1096	.	62	Q96FX8	PERP_HUMAN	K	62;44	ENSP00000397157:E62K	ENSP00000265603:E44K	E	-	1	0	PERP	138469987	0.022000	0.18835	0.003000	0.11579	0.058000	0.15608	1.536000	0.36072	1.998000	0.58463	0.556000	0.70494	GAG	PERP	-	pfam_PMP22/EMP/MP20/Claudin		0.726	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PERP	HGNC	protein_coding	OTTHUMT00000042423.2	C	NM_022121		138428294	-1	no_errors	ENST00000421351	ensembl	human	known	70_37	missense	SNP	0.007	T	T	138428294	C	T	138428294	3	4	58	1	0	0	0	0	1	0	0	0	11756	893	31	1	409	1	PERP	6	138428294	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1493914	138428294	32686773	514	8264										
TXLNB	167838	genome.wustl.edu	37	chr6	139583895	139583895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcttcttcctcacgtgcccGctgaagcgcctcttcctgcg	8	18	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:139583895G>A	ENST00000358430.3	-	5	935	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	235						cytoplasm (GO:0005737)		p.R235W(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCACGTGCCCGCTGAAGCGCC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											132	104	114					6																	139583895		2203	4300	6503	SO:0001583	missense	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.703C>T	6.37:g.139583895G>A	ENSP00000351206:p.Arg235Trp		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin_fam	p.R235W	ENST00000358430.3	37	c.703	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089226	0.55968	.	.	ENSG00000164440	ENST00000358430	T	0.34667	1.35	5.75	1.35	0.21983	.	0.050996	0.85682	D	0.000000	T	0.52581	0.1743	M	0.82323	2.585	0.46542	D	0.999099	D	0.89917	1.0	D	0.91635	0.999	T	0.63839	-0.6546	9	.	.	.	-21.2	16.8802	0.86061	0.0:0.0:0.5342:0.4658	.	235	Q8N3L3	TXLNB_HUMAN	W	235	ENSP00000351206:R235W	.	R	-	1	2	TXLNB	139625588	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	0.487000	0.22356	0.310000	0.22990	-0.274000	0.10170	CGG	TXLNB	-	pfam_Taxilin_fam		0.478	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	G	NM_153235		139583895	-1	no_errors	ENST00000358430	ensembl	human	known	70_37	missense	SNP	0.998	A	A	139583895	G	A	139583895	3	1	58	1	0	0	0	0	1	0	0	0	16819	1086	38	2	1375	2	TXLNB	6	139583895	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1155601	139583895	31531172	515	8265										
PHACTR2	9749	genome.wustl.edu	37	chr6	144086865	144086865	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caagtcagcttctttgggctGaagagccgacgaacagaacc	11	11	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:144086865G>A	ENST00000427704.2	+	6	1259	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	PHACTR2_ENST00000367584.4_Missense_Mutation_p.E365K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E388K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E297K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E308K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	377							protein phosphatase inhibitor activity (GO:0004864)	p.E297K(1)|p.E388K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCTTTGGGCTGAAGAGCCGAC	0.502																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												2	Substitution - Missense(2)	cervix(2)											87	85	86					6																	144086865		1949	4140	6089	SO:0001583	missense	9749			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1129G>A	6.37:g.144086865G>A	ENSP00000391763:p.Glu377Lys		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E388K	ENST00000427704.2	37	c.1162	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504207	0.85176	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.35048	1.33;1.59;1.37;1.58;1.37	5.22	4.34	0.51931	.	0.722791	0.14154	N	0.337808	T	0.40886	0.1135	M	0.63843	1.955	0.80722	D	1	D;B;B;B	0.71674	0.998;0.06;0.06;0.036	D;B;B;B	0.78314	0.991;0.046;0.046;0.021	T	0.23297	-1.0192	10	0.32370	T	0.25	.	8.6674	0.34130	0.0802:0.1532:0.7666:0.0	.	388;297;308;377	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	K	365;377;297;388;308	ENSP00000356556:E365K;ENSP00000391763:E377K;ENSP00000305530:E297K;ENSP00000417038:E388K;ENSP00000356554:E308K	ENSP00000305530:E297K	E	+	1	0	PHACTR2	144128558	1.000000	0.71417	0.962000	0.40283	0.944000	0.59088	3.686000	0.54685	1.186000	0.42985	0.655000	0.94253	GAA	PHACTR2	-	NULL		0.502	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	G	NM_014721		144086865	1	no_errors	ENST00000440869	ensembl	human	known	70_37	missense	SNP	0.820	A	A	144086865	G	A	144086865	3	1	58	1	0	0	0	0	1	0	0	0	11834	1291	45	1	1201	1	PHACTR2	6	144086865	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4502970	144086865	27028202	516	8266										
LATS1	9113	genome.wustl.edu	37	chr6	150004621	150004621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtcacatttgaagcggttCcctcaggaaaaggactgggt	12	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:150004621C>T	ENST00000543571.1	-	4	2151	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	LATS1_ENST00000392273.3_Missense_Mutation_p.G535E|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.G535E	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.G535E(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGAAGCGGTTCCCTCAGGAAA	0.483																																																	2	Substitution - Missense(2)	cervix(2)											154	141	145					6																	150004621		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1604G>A	6.37:g.150004621C>T	ENSP00000437550:p.Gly535Glu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.G535E	ENST00000543571.1	37	c.1604	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312046	0.23821	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.51817	0.69;0.69;3.25	5.53	3.67	0.42095	.	0.201470	0.34676	N	0.003777	T	0.25121	0.0610	L	0.51422	1.61	0.34231	D	0.676537	B;B;B	0.17667	0.0;0.023;0.0	B;B;B	0.14578	0.002;0.011;0.001	T	0.07654	-1.0761	9	.	.	.	.	16.019	0.80468	0.0:0.7455:0.2545:0.0	.	387;535;535	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	535	ENSP00000437550:G535E;ENSP00000253339:G535E;ENSP00000444678:G535E	.	G	-	2	0	LATS1	150046314	0.073000	0.21202	0.667000	0.29798	0.792000	0.44763	2.657000	0.46724	0.749000	0.32854	0.655000	0.94253	GGA	LATS1	-	NULL		0.483	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		150004621	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	0.986	T	T	150004621	C	T	150004621	3	4	58	1	0	0	0	0	1	0	0	0	8666	855	30	1	1808	1	LATS1	6	150004621	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5917756	150004621	21110446	517	8267										
RAET1E	135250	genome.wustl.edu	37	chr6	150210680	150210680	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggagggatttctctccattGgtggcgaactgccaggatgc	14	9	1	0	rs572045980		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:150210680G>C	ENST00000357183.4	-	3	558	c.426C>G	c.(424-426)acC>acG	p.T142T	RAET1E_ENST00000367363.3_Silent_p.T106T|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Silent_p.T142T|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Silent_p.T142T	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	142	MHC class I alpha-2 like.		T -> I (in dbSNP:rs9371533).	AT -> TI (in Ref. 8; AAL76417). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.T142T(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCTCTCCATTGGTGGCGAACT	0.473																																																	2	Substitution - coding silent(2)	cervix(1)|kidney(1)											156	128	137					6																	150210680		2203	4300	6503	SO:0001819	synonymous_variant	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.426C>G	6.37:g.150210680G>C			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	superfamily_MHC_I/II-like_Ag-recog	p.P107R	ENST00000357183.4	37	c.320	CCDS5221.1	6																																																																																			RAET1E	-	NULL		0.473	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1E	HGNC	protein_coding	OTTHUMT00000042659.1	G	NM_139165		150210680	-1	no_errors	ENST00000392270	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150210680	G	C	150210680	2	2	58	1	0	0	0	0	0	0	0	1	13029	1335	47	4		4	RAET1E	6	150210680	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	206059	150210680	20904387	518	8268										
ULBP2	80328	genome.wustl.edu	37	chr6	150266620	150266620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctaaatgtcacaacggcctgGaaagcacagaacccagtact	8	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:150266620G>C	ENST00000367351.3	+	2	334	c.261G>C	c.(259-261)tgG>tgC	p.W87C		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	87	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)	p.W87C(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAACGGCCTGGAAAGCACAGA	0.483																																																	1	Substitution - Missense(1)	cervix(1)											217	229	225					6																	150266620		2203	4298	6501	SO:0001583	missense	80328			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.261G>C	6.37:g.150266620G>C	ENSP00000356320:p.Trp87Cys		Q5VUN4	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.W87C	ENST00000367351.3	37	c.261	CCDS5222.1	6	.	.	.	.	.	.	.	.	.	.	-	10.99	1.506557	0.26949	.	.	ENSG00000131015	ENST00000367351	T	0.02498	4.27	2.27	0.0546	0.14311	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.05227	0.0139	M	0.77486	2.375	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.18304	-1.0341	9	0.87932	D	0	.	6.2972	0.21093	0.0:0.0:0.4699:0.5301	.	87;87	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	C	87	ENSP00000356320:W87C	ENSP00000356320:W87C	W	+	3	0	ULBP2	150308313	0.061000	0.20836	0.001000	0.08648	0.224000	0.24922	0.959000	0.29240	-0.140000	0.11394	0.184000	0.17185	TGG	ULBP2	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.483	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP2	HGNC	protein_coding	OTTHUMT00000042669.1	G			150266620	1	no_errors	ENST00000367351	ensembl	human	known	70_37	missense	SNP	0.002	C	C	150266620	G	C	150266620	3	2	58	1	0	0	0	0	1	0	0	0	17004	1183	41	1	267	1	ULBP2	6	150266620	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	55940	150266620	20848447	519	8269										
C6orf211	79624	genome.wustl.edu	37	chr6	151789691	151789691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctcgataattctggatttGagcttgttacagatttaata	7	5	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:151789691G>C	ENST00000367294.3	+	5	1031	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	C6orf211_ENST00000545879.1_Missense_Mutation_p.E139Q	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	258								p.E258Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTCTGGATTTGAGCTTGTTAC	0.353																																																	1	Substitution - Missense(1)	cervix(1)											132	136	135					6																	151789691		2203	4300	6503	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.772G>C	6.37:g.151789691G>C	ENSP00000356263:p.Glu258Gln		Q96FC6|Q9UFY5	Missense_Mutation	SNP	pfam_DUF89,superfamily_DUF89	p.E258Q	ENST00000367294.3	37	c.772	CCDS5233.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005750	0.93287	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.27104	1.69;1.69	6.02	6.02	0.97574	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76179	-0.3054	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	258	Q9H993	CF211_HUMAN	Q	258;139	ENSP00000356263:E258Q;ENSP00000444121:E139Q	ENSP00000356263:E258Q	E	+	1	0	C6orf211	151831384	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.771000	0.98977	2.850000	0.98022	0.650000	0.86243	GAG	C6orf211	-	pfam_DUF89,superfamily_DUF89		0.353	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf211	HGNC	protein_coding	OTTHUMT00000042724.1	G	NM_024573		151789691	1	no_errors	ENST00000367294	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151789691	G	C	151789691	3	2	58	1	0	0	0	0	1	0	0	0	2359	1291	45	1	790	1	C6orf211	6	151789691	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1523071	151789691	19325376	520	8270										
SYNE1	23345	genome.wustl.edu	37	chr6	152783910	152783910	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atagcttgacattcataaaaGagacttctaagggttcagaa	8	6	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:152783910G>C	ENST00000367255.5	-	20	2814	c.2213C>G	c.(2212-2214)tCt>tGt	p.S738C	SYNE1_ENST00000423061.1_Missense_Mutation_p.S745C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S738C|SYNE1_ENST00000341594.5_Missense_Mutation_p.S745C|SYNE1_ENST00000367253.4_Missense_Mutation_p.S738C|SYNE1_ENST00000495090.2_Missense_Mutation_p.S305C|SYNE1_ENST00000413186.2_Missense_Mutation_p.S738C|SYNE1_ENST00000448038.1_Missense_Mutation_p.S745C|SYNE1_ENST00000466159.2_Missense_Mutation_p.S738C|SYNE1_ENST00000367248.3_Missense_Mutation_p.S728C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	738					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S738C(2)|p.S745C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCATAAAAGAGACTTCTAA	0.403										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	cervix(3)											99	98	99					6																	152783910		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2213C>G	6.37:g.152783910G>C	ENSP00000356224:p.Ser738Cys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S738C	ENST00000367255.5	37	c.2213	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797123	0.90538	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	T;T;T;T;T;D;D;D;T;D	0.90844	0.41;0.4;0.32;0.4;0.58;-2.38;-2.52;-2.52;2.01;-2.74	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000019	D	0.94555	0.8246	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.996;1.0;0.999;0.999;1.0	D	0.94353	0.7581	10	0.72032	D	0.01	.	19.9336	0.97129	0.0:0.0:1.0:0.0	.	721;738;738;305;728;738;738;745	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.;.	C	738;745;738;745;745;738;728;738;305;738	ENSP00000356224:S738C;ENSP00000396024:S745C;ENSP00000265368:S738C;ENSP00000390975:S745C;ENSP00000341887:S745C;ENSP00000356222:S738C;ENSP00000356217:S728C;ENSP00000414510:S738C;ENSP00000438508:S305C;ENSP00000446021:S738C	ENSP00000265368:S738C	S	-	2	0	SYNE1	152825603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.378000	0.97191	2.717000	0.92951	0.563000	0.77884	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152783910	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152783910	G	C	152783910	3	2	58	1	0	0	0	0	1	0	0	0	15475	942	33	1	24761	1	SYNE1	6	152783910	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	994219	152783910	18331157	521	8271										
RGS17	26575	genome.wustl.edu	37	chr6	153332811	153332811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtgcattaaagtatatatCtgaagttgggcatcttcata	8	6	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:153332811C>G	ENST00000367225.2	-	4	555	c.531G>C	c.(529-531)caG>caC	p.Q177H	RGS17_ENST00000206262.1_Missense_Mutation_p.Q177H			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	177	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q177Q(1)|p.Q177H(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAGTATATATCTGAAGTTGGG	0.353																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|large_intestine(1)											60	60	60					6																	153332811		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.531G>C	6.37:g.153332811C>G	ENSP00000356194:p.Gln177His		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q177H	ENST00000367225.2	37	c.531	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498768	0.64298	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.01871	4.59;4.59	5.19	4.32	0.51571	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	L	0.38953	1.18	0.80722	D	1	P	0.49253	0.921	P	0.50617	0.646	T	0.66240	-0.5973	10	0.36615	T	0.2	-16.4201	14.049	0.64725	0.0:0.9265:0.0:0.0735	.	177	Q9UGC6	RGS17_HUMAN	H	177	ENSP00000356194:Q177H;ENSP00000206262:Q177H	ENSP00000206262:Q177H	Q	-	3	2	RGS17	153374504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	1.329000	0.45376	0.551000	0.68910	CAG	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.353	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	C			153332811	-1	no_errors	ENST00000206262	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153332811	C	G	153332811	3	3	58	1	0	0	0	0	1	0	0	0	13329	912	32	1	105	1	RGS17	6	153332811	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	548901	153332811	17782256	522	8272										
NOX3	50508	genome.wustl.edu	37	chr6	155750143	155750143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attttaaagccacgctttttCatgtgaagttccaggactcc	7	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:155750143C>T	ENST00000159060.2	-	9	1032	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	310	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.M310I(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CACGCTTTTTCATGTGAAGTT	0.502																																																	1	Substitution - Missense(1)	cervix(1)											98	98	98					6																	155750143		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.930G>A	6.37:g.155750143C>T	ENSP00000159060:p.Met310Ile		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.M310I	ENST00000159060.2	37	c.930	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731293	0.89390	.	.	ENSG00000074771	ENST00000159060	T	0.11821	2.74	5.68	5.68	0.88126	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.54965	1.715	0.58432	D	0.999997	D	0.57571	0.98	P	0.49752	0.621	T	0.00867	-1.1534	10	0.35671	T	0.21	-33.7709	19.7782	0.96405	0.0:1.0:0.0:0.0	.	310	Q9HBY0	NOX3_HUMAN	I	310	ENSP00000159060:M310I	ENSP00000159060:M310I	M	-	3	0	NOX3	155791835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.397000	0.79903	2.676000	0.91093	0.563000	0.77884	ATG	NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.502	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	C			155750143	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155750143	C	T	155750143	3	4	58	1	0	0	0	0	1	0	0	0	10581	826	29	1	796	1	NOX3	6	155750143	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2417332	155750143	15364924	523	8273										
MRPL18	29074	genome.wustl.edu	37	chr6	160219111	160219111	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gactacaaagtgccatgacaGaaggtggtgtggttctacgg	14	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:160219111G>A	ENST00000367034.4	+	4	621	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	PNLDC1_ENST00000392167.3_5'Flank|MRPL18_ENST00000480842.1_3'UTR|PNLDC1_ENST00000610273.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	167					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.E167K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TGCCATGACAGAAGGTGGTGT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											80	86	84					6																	160219111		2203	4300	6503	SO:0001583	missense	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.499G>A	6.37:g.160219111G>A	ENSP00000356001:p.Glu167Lys		Q5TAP9|Q9NZW8	Missense_Mutation	SNP	pfam_Ribosomal_L18/L5	p.E167K	ENST00000367034.4	37	c.499	CCDS5270.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384096	0.82792	.	.	ENSG00000112110	ENST00000367034	T	0.57752	0.38	5.26	5.26	0.73747	.	0.050906	0.85682	D	0.000000	T	0.68348	0.2991	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68973	-0.5268	10	0.56958	D	0.05	-15.5497	19.0748	0.93156	0.0:0.0:1.0:0.0	.	167	Q9H0U6	RM18_HUMAN	K	167	ENSP00000356001:E167K	ENSP00000356001:E167K	E	+	1	0	MRPL18	160139101	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.176000	0.71955	2.733000	0.93635	0.655000	0.94253	GAA	MRPL18	-	NULL		0.378	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL18	HGNC	protein_coding	OTTHUMT00000042925.1	G			160219111	1	no_errors	ENST00000367034	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160219111	G	A	160219111	3	1	58	1	0	0	0	0	1	0	0	0	9806	943	33	1	513	1	MRPL18	6	160219111	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4468968	160219111	10895956	524	8274										
RPS6KA2	6196	genome.wustl.edu	37	chr6	166918098	166918098	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acatcctcctccgtgaacatGacctagtaagaaaaaaacaa	5	11	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:166918098G>C	ENST00000265678.4	-	6	685	c.462C>G	c.(460-462)gtC>gtG	p.V154V	RPS6KA2_ENST00000405189.3_Silent_p.V65V|RPS6KA2_ENST00000481261.2_Silent_p.V65V|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000510118.1_Silent_p.V179V|RPS6KA2_ENST00000503859.1_Silent_p.V162V	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	154	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.V162V(1)|p.V154V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCGTGAACATGACCTAGTAAG	0.438																																																	2	Substitution - coding silent(2)	cervix(2)											110	102	105					6																	166918098		2203	4300	6503	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.462C>G	6.37:g.166918098G>C			B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V179	ENST00000265678.4	37	c.537	CCDS5294.1	6																																																																																			RPS6KA2	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.438	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166918098	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	silent	SNP	1.000	C	C	166918098	G	C	166918098	2	2	58	1	0	0	0	0	0	0	0	1	13681	1277	45	1		1	RPS6KA2	6	166918098	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6698987	166918098	4196969	525	8275										
FOXK1	221937	genome.wustl.edu	37	chr7	4780530	4780530	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcacgtcgctctatcacaaaGaagaggccccagcctccccg	8	17	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:4780530G>A	ENST00000328914.4	+	2	622	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FOXK1_ENST00000446823.1_Missense_Mutation_p.E45K	NM_001037165.1	NP_001032242.1			forkhead box K1									p.E208K(1)|p.E34K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTATCACAAAGAAGAGGCCCC	0.627																																																	2	Substitution - Missense(2)	cervix(2)											144	150	148					7																	4780530		2203	4300	6503	SO:0001583	missense	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.622G>A	7.37:g.4780530G>A	ENSP00000328720:p.Glu208Lys			Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.E208K	ENST00000328914.4	37	c.622	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679062	0.29783	.	.	ENSG00000164916	ENST00000446823;ENST00000328914;ENST00000545598	D;D	0.95724	-3.41;-3.79	4.99	4.99	0.66335	.	0.255793	0.39407	N	0.001363	D	0.86087	0.5849	N	0.02011	-0.69	0.35408	D	0.792207	B;P;B	0.42248	0.057;0.774;0.071	B;B;B	0.42495	0.027;0.389;0.03	D	0.87718	0.2571	10	0.08599	T	0.76	.	13.0835	0.59127	0.0:0.1611:0.8389:0.0	.	208;91;45	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	K	45;208;91	ENSP00000394442:E45K;ENSP00000328720:E208K	ENSP00000328720:E208K	E	+	1	0	FOXK1	4747056	1.000000	0.71417	0.872000	0.34217	0.316000	0.28119	7.716000	0.84723	2.307000	0.77673	0.563000	0.77884	GAA	FOXK1	-	NULL		0.627	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	G			4780530	1	no_errors	ENST00000328914	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4780530	G	A	4780530	3	1	58	1	0	0	0	0	1	0	0	0	6032	943	33	1	628	1	FOXK1	7	4780530	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		4780530	154358133	526	8276										
SLC29A4	222962	genome.wustl.edu	37	chr7	5331358	5331358	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgggccctctcctttttatCagcatctgcgacgtgtggct	10	12	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:5331358C>A	ENST00000396872.3	+	5	611	c.450C>A	c.(448-450)atC>atA	p.I150I	SLC29A4_ENST00000297195.4_Silent_p.I150I|SLC29A4_ENST00000406453.3_Intron			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	150					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.I150I(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCCTTTTTATCAGCATCTGCG	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											70	67	68					7																	5331358		2203	4300	6503	SO:0001819	synonymous_variant	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.450C>A	7.37:g.5331358C>A			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.I150	ENST00000396872.3	37	c.450	CCDS5340.1	7																																																																																			SLC29A4	-	superfamily_MFS_dom_general_subst_transpt		0.637	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5331358	1	no_errors	ENST00000297195	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5331358	C	A	5331358	2	1	58	1	0	0	0	0	0	0	0	1	14567	816	29	3		3	SLC29A4	7	5331358	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	550828	5331358	153807305	527	8277										
RAC1	5879	genome.wustl.edu	37	chr7	6441588	6441588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggatgataaagacacgatCgagaaactgaaggagaagaa	13	4	0	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:6441588C>T	ENST00000348035.4	+	5	591	c.378C>T	c.(376-378)atC>atT	p.I126I	RAC1_ENST00000356142.4_Silent_p.I145I|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	126					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.I145I(1)|p.I126I(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	AAGACACGATCGAGAAACTGA	0.483																																																	2	Substitution - coding silent(2)	cervix(2)											179	147	158					7																	6441588		2203	4300	6503	SO:0001819	synonymous_variant	5879			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.378C>T	7.37:g.6441588C>T			O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I145	ENST00000348035.4	37	c.435	CCDS5348.1	7																																																																																			RAC1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho		0.483	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	HGNC	protein_coding	OTTHUMT00000242868.2	C	NM_018890		6441588	1	no_errors	ENST00000356142	ensembl	human	known	70_37	silent	SNP	0.074	T	T	6441588	C	T	6441588	2	4	58	1	0	0	0	0	0	0	0	1	13004	874	31	1		1	RAC1	7	6441588	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1110230	6441588	152697075	528	8278										
ICA1	3382	genome.wustl.edu	37	chr7	8268241	8268241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcatacttacaacatatcctCttttgatagagtacaattgc	4	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:8268241C>G	ENST00000402384.3	-	4	512	c.246G>C	c.(244-246)aaG>aaC	p.K82N	ICA1_ENST00000265577.7_Missense_Mutation_p.K81N|ICA1_ENST00000401396.1_Missense_Mutation_p.K70N|ICA1_ENST00000407906.1_Missense_Mutation_p.K82N|ICA1_ENST00000422063.2_Missense_Mutation_p.K82N|ICA1_ENST00000396675.3_Missense_Mutation_p.K82N|ICA1_ENST00000406470.2_Missense_Mutation_p.K82N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	82	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AACATATCCTCTTTTGATAGA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											98	90	93					7																	8268241		2200	4298	6498	SO:0001583	missense	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.246G>C	7.37:g.8268241C>G	ENSP00000385570:p.Lys82Asn		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.K82N	ENST00000402384.3	37	c.246	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674397	0.29693	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326;ENST00000430867	T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.96	5.96	0.96718	Arfaptin-like (3);	0.084483	0.85682	D	0.000000	T	0.70684	0.3252	N	0.05441	-0.05	0.58432	D	0.999994	B;B;B;B;D	0.61697	0.242;0.3;0.238;0.412;0.99	B;B;B;B;P	0.62491	0.101;0.114;0.114;0.178;0.903	T	0.66320	-0.5953	10	0.12103	T	0.63	-22.4086	11.3298	0.49468	0.0:0.892:0.0:0.108	.	82;82;81;82;70	B3FTQ2;E7ENI6;Q96HG3;Q05084;E9PDL4	.;.;.;ICA69_HUMAN;.	N	82;82;81;82;70;82;82;70;82;81	ENSP00000385570:K82N;ENSP00000385651:K82N;ENSP00000265577:K81N;ENSP00000379908:K82N;ENSP00000385305:K70N;ENSP00000403982:K82N;ENSP00000386021:K82N;ENSP00000316074:K70N;ENSP00000398435:K82N;ENSP00000397496:K81N	ENSP00000265577:K81N	K	-	3	2	ICA1	8234766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.019000	0.41001	2.832000	0.97577	0.655000	0.94253	AAG	ICA1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.303	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8268241	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8268241	C	G	8268241	3	3	58	1	0	0	0	0	1	0	0	0	7497	912	32	1	1249	1	ICA1	7	8268241	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1826653	8268241	150870422	529	8279										
THSD7A	221981	genome.wustl.edu	37	chr7	11446088	11446088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccttgttctggtcccttctCcacactgggcctcctggaat	8	15	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:11446088C>T	ENST00000423059.4	-	22	4327	c.4076G>A	c.(4075-4077)gGa>gAa	p.G1359E	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1359	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1359E(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCCCTTCTCCACACTGGGC	0.418										HNSCC(18;0.044)																																							1	Substitution - Missense(1)	cervix(1)											55	53	54					7																	11446088		1902	4127	6029	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4076G>A	7.37:g.11446088C>T	ENSP00000406482:p.Gly1359Glu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G1359E	ENST00000423059.4	37	c.4076	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729910	0.89390	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.70516	-0.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86184	0.1608	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1359	Q9UPZ6	THS7A_HUMAN	E	1359	ENSP00000406482:G1359E	ENSP00000262042:G1359E	G	-	2	0	THSD7A	11412613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.790000	0.85794	2.941000	0.99782	0.655000	0.94253	GGA	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11446088	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11446088	C	T	11446088	3	4	58	1	0	0	0	0	1	0	0	0	15909	855	30	1	925	1	THSD7A	7	11446088	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3177847	11446088	147692575	530	8280										
BZW2	28969	genome.wustl.edu	37	chr7	16720997	16720997	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actgtgtgttttcagcaaatGaagatcatgaaaccatccga	8	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:16720997G>A	ENST00000433922.2	+	4	485	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	BZW2_ENST00000405202.1_Missense_Mutation_p.E27K|BZW2_ENST00000258761.3_Missense_Mutation_p.E103K|BZW2_ENST00000452975.2_Missense_Mutation_p.E103K|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	103					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.E103K(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTCAGCAAATGAAGATCATGA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											137	121	126					7																	16720997		2203	4300	6503	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.307G>A	7.37:g.16720997G>A	ENSP00000397249:p.Glu103Lys		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.E103K	ENST00000433922.2	37	c.307	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.232884	0.97399	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.993	D;D;D	0.80764	0.956;0.994;0.956	T	0.69877	-0.5026	10	0.27082	T	0.32	-12.2543	20.2527	0.98410	0.0:0.0:1.0:0.0	.	103;103;103	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	K	103;103;103;103;27;103;103;103	ENSP00000403481:E103K;ENSP00000258761:E103K;ENSP00000397249:E103K;ENSP00000411715:E103K;ENSP00000385577:E27K;ENSP00000412750:E103K;ENSP00000415924:E103K;ENSP00000416531:E103K	ENSP00000258761:E103K	E	+	1	0	BZW2	16687522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.788000	0.95919	0.557000	0.71058	GAA	BZW2	-	NULL		0.428	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	G	NM_014038		16720997	1	no_errors	ENST00000258761	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16720997	G	A	16720997	3	1	58	1	0	0	0	0	1	0	0	0	1582	1291	45	1	317	1	BZW2	7	16720997	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5274909	16720997	142417666	531	8281										
DNAH11	8701	genome.wustl.edu	37	chr7	21826259	21826259	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggtcaacctcagtgagctGaaagcctttcccaaccctcc	7	16	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:21826259G>A	ENST00000409508.3	+	59	9646	c.9615G>A	c.(9613-9615)ctG>ctA	p.L3205L	DNAH11_ENST00000328843.6_Silent_p.L3212L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3212	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3212L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGTGAGCTGAAAGCCTTTC	0.517									Kartagener syndrome																																								1	Substitution - coding silent(1)	cervix(1)											138	137	137					7																	21826259		1954	4146	6100	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9615G>A	7.37:g.21826259G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3212	ENST00000409508.3	37	c.9636		7																																																																																			DNAH11	-	NULL		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21826259	1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21826259	G	A	21826259	2	1	58	1	0	0	0	0	0	0	0	1	4609	1277	45	1		1	DNAH11	7	21826259	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5105262	21826259	137312404	532	8282										
HOXA2	3199	genome.wustl.edu	37	chr7	27140514	27140514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaacgctaaagtcctgcaaaGaggggacctcaagggcctca	11	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:27140514G>C	ENST00000222718.5	-	2	1272	c.962C>G	c.(961-963)tCt>tGt	p.S321C	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	321					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S321C(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GTCCTGCAAAGAGGGGACCTC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											79	78	78					7																	27140514		2203	4300	6503	SO:0001583	missense	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.962C>G	7.37:g.27140514G>C	ENSP00000222718:p.Ser321Cys		A1L4K3|B2RMW3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S321C	ENST00000222718.5	37	c.962	CCDS5403.1	7	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883882	0.51908	.	.	ENSG00000105996	ENST00000222718	T	0.11063	2.81	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	T	0.37489	0.1005	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.28202	-1.0051	10	0.45353	T	0.12	.	18.0474	0.89337	0.0:0.0:1.0:0.0	.	321	O43364	HXA2_HUMAN	C	321	ENSP00000222718:S321C	ENSP00000222718:S321C	S	-	2	0	HOXA2	27107039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.415000	0.81967	0.655000	0.94253	TCT	HOXA2	-	NULL		0.527	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2	G			27140514	-1	no_errors	ENST00000222718	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27140514	G	C	27140514	3	2	58	1	0	0	0	0	1	0	0	0	7312	942	33	1	172	1	HOXA2	7	27140514	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5314255	27140514	131998149	533	8283										
LSM5	23658	genome.wustl.edu	37	chr7	32529949	32529949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacctaagggcagcagctgcGacgggttggtagtagcgtta	15	8	0	0	rs376563041		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:32529949G>A	ENST00000450169.2	-	1	81	c.29C>T	c.(28-30)tCg>tTg	p.S10L	LSM5_ENST00000409292.1_5'Flank|LSM5_ENST00000409909.3_Intron|LSM5_ENST00000409952.3_Intron|LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000410044.1_5'UTR|LSM5_ENST00000409987.1_Missense_Mutation_p.S10L	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.S10L(2)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CAGCAGCTGCGACGGGTTGGT	0.612																																																	2	Substitution - Missense(2)	cervix(1)|breast(1)						G	,,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	82	66	71		,,29	5.2	1	7		71	0,8600		0,0,4300	no	intron,intron,missense	LSM5	NM_001130710.1,NM_001139499.1,NM_012322.2	,,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,possibly-damaging	,,10/92	32529949	1,13005	2203	4300	6503	SO:0001583	missense	23658			AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.29C>T	7.37:g.32529949G>A	ENSP00000410758:p.Ser10Leu			Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.S10L	ENST00000450169.2	37	c.29	CCDS5438.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297735	0.81025	2.27E-4	0.0	ENSG00000106355	ENST00000450169;ENST00000409987	.	.	.	5.23	5.23	0.72850	.	0.063724	0.64402	D	0.000003	T	0.59115	0.2170	.	.	.	0.80722	D	1	B	0.19331	0.035	B	0.12156	0.007	T	0.58329	-0.7655	8	0.87932	D	0	-0.3862	18.58	0.91167	0.0:0.0:1.0:0.0	.	10	Q9Y4Y9	LSM5_HUMAN	L	10	.	ENSP00000223084:S10L	S	-	2	0	LSM5	32496474	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.655000	0.83696	2.719000	0.93026	0.655000	0.94253	TCG	LSM5	-	NULL		0.612	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM5	HGNC	protein_coding	OTTHUMT00000215102.2	G			32529949	-1	no_errors	ENST00000450169	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32529949	G	A	32529949	3	1	58	1	0	0	0	0	1	0	0	0	9082	1059	37	1	266	1	LSM5	7	32529949	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5389435	32529949	126608714	534	8284										
BMPER	168667	genome.wustl.edu	37	chr7	33946488	33946488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagattccatttatcacagaCaacccttgcataatgtgtgt	6	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:33946488C>T	ENST00000297161.2	+	3	566	c.192C>T	c.(190-192)gaC>gaT	p.D64D	BMPER_ENST00000426693.1_Silent_p.D64D	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	64	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.D64D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTATCACAGACAACCCTTGCA	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											136	126	129					7																	33946488		2203	4300	6503	SO:0001819	synonymous_variant	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.192C>T	7.37:g.33946488C>T			A8K1P8|Q8TF36	Silent	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.D64	ENST00000297161.2	37	c.192	CCDS5442.1	7																																																																																			BMPER	-	smart_VWF_C		0.373	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	C	NM_133468		33946488	1	no_errors	ENST00000297161	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33946488	C	T	33946488	2	4	58	1	0	0	0	0	0	0	0	1	1469	477	17	4		4	BMPER	7	33946488	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1416539	33946488	125192175	535	8285										
TBX20	57057	genome.wustl.edu	37	chr7	35284624	35284624	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaaaagacaccatctgtttGagtagttgctcaccggtaaa	8	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:35284624G>C	ENST00000408931.3	-	4	1117	c.591C>G	c.(589-591)ctC>ctG	p.L197L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	197					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L197L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCATCTGTTTGAGTAGTTGCT	0.413																																																	2	Substitution - coding silent(2)	cervix(2)											169	138	148					7																	35284624		2203	4300	6503	SO:0001819	synonymous_variant	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.591C>G	7.37:g.35284624G>C			A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L197	ENST00000408931.3	37	c.591	CCDS43568.1	7																																																																																			TBX20	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.413	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	G	NM_020417		35284624	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	silent	SNP	1.000	C	C	35284624	G	C	35284624	2	2	58	1	0	0	0	0	0	0	0	1	15686	1277	45	1		1	TBX20	7	35284624	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1338136	35284624	123854039	536	8286										
CDK13	8621	genome.wustl.edu	37	chr7	40134371	40134371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcaaacagcagtgacccttCcacggggccagagagtactc	12	13	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:40134371C>T	ENST00000181839.4	+	14	4936	c.4331C>T	c.(4330-4332)tCc>tTc	p.S1444F	CDK13_ENST00000340829.5_Missense_Mutation_p.S1384F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1444					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.S1444F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTGACCCTTCCACGGGGCCA	0.483																																																	1	Substitution - Missense(1)	cervix(1)											113	97	102					7																	40134371		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4331C>T	7.37:g.40134371C>T	ENSP00000181839:p.Ser1444Phe		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.S1444F	ENST00000181839.4	37	c.4331	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050400	0.55218	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.49139	0.79;0.79	5.13	5.13	0.70059	.	.	.	.	.	T	0.46151	0.1378	N	0.14661	0.345	0.43637	D	0.996038	D;B	0.60160	0.987;0.38	P;B	0.55303	0.773;0.191	T	0.40794	-0.9544	8	.	.	.	-0.0091	18.6541	0.91441	0.0:1.0:0.0:0.0	.	1384;1444	Q14004-2;Q14004	.;CDK13_HUMAN	F	1444;1384	ENSP00000181839:S1444F;ENSP00000340557:S1384F	.	S	+	2	0	CDK13	40100896	0.811000	0.29063	0.997000	0.53966	0.965000	0.64279	3.788000	0.55446	2.409000	0.81822	0.650000	0.86243	TCC	CDK13	-	NULL		0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40134371	1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	0.987	T	T	40134371	C	T	40134371	3	4	58	1	0	0	0	0	1	0	0	0	3134	855	30	1	4385	1	CDK13	7	40134371	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4849747	40134371	119004292	537	8287										
OGDH	4967	genome.wustl.edu	37	chr7	44715759	44715759	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggaaaaaggtaaggcccaGagagaggcgtgcaaggcaga	17	6	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:44715759G>C	ENST00000222673.5	+	9	1248				OGDH_ENST00000444676.1_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.R406T|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R406T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTAAGGCCCAGAGAGAGGCGT	0.547																																																	1	Substitution - Missense(1)	cervix(1)											80	77	78					7																	44715759		2203	4300	6503	SO:0001627	intron_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1206+11G>C	7.37:g.44715759G>C			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1	p.R406T	ENST00000222673.5	37	c.1217	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648211	0.29336	.	.	ENSG00000105953	ENST00000443864	T	0.41400	1.0	3.66	0.751	0.18392	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	7	.	.	.	.	4.8628	0.13592	0.1658:0.3221:0.5121:0.0	.	406	Q96DD3	.	T	406	ENSP00000388084:R406T	.	R	+	2	0	OGDH	44682284	0.512000	0.26186	0.000000	0.03702	0.095000	0.18619	0.291000	0.18994	-0.008000	0.14320	0.462000	0.41574	AGA	OGDH	-	NULL		0.547	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44715759	1	no_errors	ENST00000443864	ensembl	human	known	70_37	missense	SNP	0.000	C	C	44715759	G	C	44715759	1	2	58	0	1	0	0	0	0	0	0	0	10863	942	33	1		1	OGDH	7	44715759	Intron	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4581388	44715759	114422904	538	8288										
MYO1G	64005	genome.wustl.edu	37	chr7	45015178	45015178	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccaaagcggctggagttgtGattgcggttggtgcgggcat	18	7	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:45015178G>C	ENST00000258787.7	-	4	605	c.469C>G	c.(469-471)Cac>Gac	p.H157D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	157	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGAGTTGTGATTGCGGTTG	0.577																																																	0													114	108	110					7																	45015178		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.469C>G	7.37:g.45015178G>C	ENSP00000258787:p.His157Asp		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.H157D	ENST00000258787.7	37	c.469	CCDS34629.1	7	.	.	.	.	.	.	.	.	.	.	G	2.239	-0.374345	0.05034	.	.	ENSG00000136286	ENST00000258787	D	0.85171	-1.95	4.44	2.6	0.31112	Myosin head, motor domain (3);	0.000000	0.42821	D	0.000650	T	0.45034	0.1322	N	0.00179	-1.91	0.37516	D	0.917335	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.52442	-0.8575	10	0.02654	T	1	.	3.5261	0.07760	0.0921:0.2719:0.4813:0.1547	.	157;157	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	D	157	ENSP00000258787:H157D	ENSP00000258787:H157D	H	-	1	0	MYO1G	44981703	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.288000	0.65651	0.594000	0.29761	-0.136000	0.14681	CAC	MYO1G	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.577	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1G	HGNC	protein_coding	OTTHUMT00000341832.2	G			45015178	-1	no_errors	ENST00000258787	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45015178	G	C	45015178	3	2	58	1	0	0	0	0	1	0	0	0	10097	1290	45	1	2663	1	MYO1G	7	45015178	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	299419	45015178	114123485	539	8289										
ADCY1	107	genome.wustl.edu	37	chr7	45662258	45662258	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgctgacatcgtgggtttCacgggcttggcatcccagtg	13	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:45662258C>G	ENST00000297323.7	+	4	958	c.936C>G	c.(934-936)ttC>ttG	p.F312L	ADCY1_ENST00000432715.1_Missense_Mutation_p.F87L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	312					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.F312L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGTGGGTTTCACGGGCTTGG	0.527																																																	1	Substitution - Missense(1)	cervix(1)											105	96	99					7																	45662258		2203	4300	6503	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.936C>G	7.37:g.45662258C>G	ENSP00000297323:p.Phe312Leu		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F312L	ENST00000297323.7	37	c.936	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465815	0.84425	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.87729	-2.29;-2.29	5.03	4.16	0.48862	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	H	0.99650	4.68	0.80722	D	1	D;D	0.71674	0.982;0.998	P;D	0.77004	0.787;0.989	D	0.96487	0.9361	10	0.87932	D	0	.	11.2191	0.48844	0.0:0.9112:0.0:0.0888	.	312;87	Q08828;C9J1J0	ADCY1_HUMAN;.	L	87;312;312	ENSP00000392721:F87L;ENSP00000297323:F312L	ENSP00000297323:F312L	F	+	3	2	ADCY1	45628783	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.771000	0.47670	1.331000	0.45412	0.655000	0.94253	TTC	ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45662258	1	no_errors	ENST00000297323	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45662258	C	G	45662258	3	3	58	1	0	0	0	0	1	0	0	0	292	825	29	1	950	1	ADCY1	7	45662258	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	647080	45662258	113476405	540	8290										
PKD1L1	168507	genome.wustl.edu	37	chr7	47880142	47880142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggtttctgacagtccattGtcgccacataaaacaatgta	7	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:47880142G>A	ENST00000289672.2	-	35	5519	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1823	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.D1823D(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTCCATTGTCGCCACATA	0.473																																																	1	Substitution - coding silent(1)	cervix(1)											75	75	75					7																	47880142		2203	4300	6503	SO:0001819	synonymous_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5469C>T	7.37:g.47880142G>A			Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.D1823	ENST00000289672.2	37	c.5469	CCDS34633.1	7																																																																																			PKD1L1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	G	NM_138295		47880142	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	silent	SNP	0.769	A	A	47880142	G	A	47880142	2	1	58	1	0	0	0	0	0	0	0	1	11988	1368	48	4		4	PKD1L1	7	47880142	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2217884	47880142	111258521	541	8291										
PKD1L1	168507	genome.wustl.edu	37	chr7	47942089	47942089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attattgaaggcaaggacctCcactgtaaattctccttccc	6	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:47942089C>T	ENST00000289672.2	-	13	2001	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	651	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E651K(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAAGGACCTCCACTGTAAAT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											84	82	83					7																	47942089		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1951G>A	7.37:g.47942089C>T	ENSP00000289672:p.Glu651Lys		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.E651K	ENST00000289672.2	37	c.1951	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676468	0.29783	.	.	ENSG00000158683	ENST00000289672	T	0.58797	0.31	5.14	-0.302	0.12796	PKD/Chitinase domain (1);PKD domain (4);	0.571419	0.15142	N	0.278255	T	0.37919	0.1021	N	0.16037	0.36	0.23735	N	0.996982	P	0.45176	0.852	P	0.45712	0.491	T	0.36792	-0.9733	10	0.13470	T	0.59	-5.6323	8.524	0.33293	0.0:0.3648:0.4777:0.1575	.	651	Q8TDX9	PK1L1_HUMAN	K	651	ENSP00000289672:E651K	ENSP00000289672:E651K	E	-	1	0	PKD1L1	47908614	0.010000	0.17322	0.075000	0.20258	0.384000	0.30261	-0.251000	0.08818	-0.395000	0.07715	0.650000	0.86243	GAG	PKD1L1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom		0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	C	NM_138295		47942089	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	0.978	T	T	47942089	C	T	47942089	3	4	58	1	0	0	0	0	1	0	0	0	11988	864	30	1	6778	1	PKD1L1	7	47942089	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	61947	47942089	111196574	542	8292										
IKZF1	10320	genome.wustl.edu	37	chr7	50468297	50468297	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttctcgtcgcacataacgcGaggggagcaccgcttccaca	11	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:50468297G>C	ENST00000331340.3	+	8	1687	c.1532G>C	c.(1531-1533)cGa>cCa	p.R511P	IKZF1_ENST00000357364.4_Missense_Mutation_p.R424P|IKZF1_ENST00000349824.4_Missense_Mutation_p.R368P|IKZF1_ENST00000438033.1_Missense_Mutation_p.R424P|IKZF1_ENST00000346667.4_Missense_Mutation_p.R281P|IKZF1_ENST00000359197.5_Missense_Mutation_p.R469P|IKZF1_ENST00000439701.1_Missense_Mutation_p.R469P|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.R424P	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	511					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.R511P(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACATAACGCGAGGGGAGCAC	0.627			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(28)|cervix(1)											47	48	48					7																	50468297		2153	4269	6422	SO:0001583	missense	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1532G>C	7.37:g.50468297G>C	ENSP00000331614:p.Arg511Pro		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R511P	ENST00000331340.3	37	c.1532		7	.	.	.	.	.	.	.	.	.	.	G	32	5.147751	0.94603	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.998	T	0.72097	-0.4393	9	0.87932	D	0	-9.4151	19.9376	0.97146	0.0:0.0:1.0:0.0	.	424;281;424;469;511	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	P	281;424;469;368;424;511;424;469	ENSP00000340080:R281P;ENSP00000342750:R424P;ENSP00000352123:R469P;ENSP00000342485:R368P;ENSP00000349928:R424P;ENSP00000331614:R511P;ENSP00000396554:R424P;ENSP00000413025:R469P	ENSP00000331614:R511P	R	+	2	0	IKZF1	50435791	1.000000	0.71417	0.727000	0.30756	0.928000	0.56348	9.758000	0.98927	2.711000	0.92665	0.655000	0.94253	CGA	IKZF1	-	smart_Znf_C2H2-like		0.627	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	G	NM_006060		50468297	1	no_errors	ENST00000331340	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50468297	G	C	50468297	3	2	58	1	0	0	0	0	1	0	0	0	7634	1058	37	1	1558	1	IKZF1	7	50468297	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2526208	50468297	108670366	543	8293										
GUSB	2990	genome.wustl.edu	37	chr7	65440021	65440021	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagggagtgtgtagaagtcaGacacaggccccagtgacgtc	14	10	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:65440021G>A	ENST00000304895.4	-	6	1080	c.950C>T	c.(949-951)tCt>tTt	p.S317F	GUSB_ENST00000421103.1_Missense_Mutation_p.S171F|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	317					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.S317F(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTAGAAGTCAGACACAGGCCC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											88	82	84					7																	65440021		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.950C>T	7.37:g.65440021G>A	ENSP00000302728:p.Ser317Phe		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.S317F	ENST00000304895.4	37	c.950	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243609	0.22796	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.95205	-2.06;-3.64	4.99	4.12	0.48240	Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich (2);Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain (1);	0.533192	0.18402	N	0.142322	D	0.92877	0.7734	L	0.48362	1.52	0.18873	N	0.999983	D;P	0.62365	0.991;0.934	P;P	0.51657	0.668;0.676	D	0.86443	0.1768	10	0.52906	T	0.07	.	6.4401	0.21845	0.0884:0.0:0.6358:0.2758	.	171;317	E9PCV0;P08236	.;BGLR_HUMAN	F	317;171	ENSP00000302728:S317F;ENSP00000391390:S171F	ENSP00000302728:S317F	S	-	2	0	GUSB	65077456	0.000000	0.05858	0.063000	0.19743	0.015000	0.08874	0.802000	0.27069	1.330000	0.45394	-0.350000	0.07774	TCT	GUSB	-	pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like		0.577	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	G	NM_000181		65440021	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	0.046	A	A	65440021	G	A	65440021	3	1	58	1	0	0	0	0	1	0	0	0	6922	942	33	1	1033	1	GUSB	7	65440021	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	14971724	65440021	93698642	544	8294										
GUSB	2990	genome.wustl.edu	37	chr7	65440036	65440036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtcagacacaggccccagtGacgtctgtgcagtcagctgc	12	13	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:65440036G>A	ENST00000304895.4	-	6	1065	c.935C>T	c.(934-936)tCa>tTa	p.S312L	GUSB_ENST00000421103.1_Missense_Mutation_p.S166L|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	312					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.S312L(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGGCCCCAGTGACGTCTGTGC	0.592																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM960794	GUSB	M							75	69	71					7																	65440036		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.935C>T	7.37:g.65440036G>A	ENSP00000302728:p.Ser312Leu		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.S312L	ENST00000304895.4	37	c.935	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747285	0.30955	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.95238	-2.06;-3.65	4.62	-1.34	0.09143	Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich (2);Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain (1);	0.788449	0.12081	N	0.501300	D	0.87370	0.6160	L	0.42245	1.32	0.18873	N	0.999987	P;B	0.35527	0.507;0.026	B;B	0.20955	0.032;0.007	T	0.76083	-0.3089	10	0.30854	T	0.27	.	7.6416	0.28296	0.0:0.4291:0.2361:0.3348	.	166;312	E9PCV0;P08236	.;BGLR_HUMAN	L	312;166	ENSP00000302728:S312L;ENSP00000391390:S166L	ENSP00000302728:S312L	S	-	2	0	GUSB	65077471	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	-0.107000	0.12088	0.511000	0.50034	TCA	GUSB	-	pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	G	NM_000181		65440036	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	0.001	A	A	65440036	G	A	65440036	3	1	58	1	0	0	0	0	1	0	0	0	6922	1294	45	1	1048	1	GUSB	7	65440036	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	15	65440036	93698627	545	8295										
BAZ1B	9031	genome.wustl.edu	37	chr7	72892242	72892242	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgaacaagacttcgcaattCttctgggagacgagctctat	9	9	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:72892242C>G	ENST00000339594.4	-	7	1887	c.1549G>C	c.(1549-1551)Gaa>Caa	p.E517Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E517Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	517	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.E517Q(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCGCAATTCTTCTGGGAGA	0.428																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - Missense(1)	cervix(1)											104	108	106					7																	72892242		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1549G>C	7.37:g.72892242C>G	ENSP00000342434:p.Glu517Gln		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E517Q	ENST00000339594.4	37	c.1549	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795698	0.70452	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59638	0.25;0.25	5.51	5.51	0.81932	.	0.045486	0.85682	D	0.000000	T	0.51058	0.1652	L	0.29908	0.895	0.52501	D	0.999952	P	0.46912	0.886	B	0.42798	0.398	T	0.53034	-0.8495	10	0.45353	T	0.12	-26.9871	18.4107	0.90549	0.0:1.0:0.0:0.0	.	517	Q9UIG0	BAZ1B_HUMAN	Q	517	ENSP00000342434:E517Q;ENSP00000385442:E517Q	ENSP00000342434:E517Q	E	-	1	0	BAZ1B	72530178	1.000000	0.71417	0.856000	0.33681	0.999000	0.98932	7.240000	0.78192	2.593000	0.87608	0.655000	0.94253	GAA	BAZ1B	-	superfamily_ARM-type_fold		0.428	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	C	NM_032408		72892242	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72892242	C	G	72892242	3	3	58	1	0	0	0	0	1	0	0	0	1331	922	32	1	2954	1	BAZ1B	7	72892242	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7452206	72892242	86246421	546	8296										
LIMK1	3984	genome.wustl.edu	37	chr7	73511476	73511476	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtgtgggacctttatcggtGacggggacacctacacgctg	14	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:73511476G>A	ENST00000336180.2	+	4	409	c.358G>A	c.(358-360)Gac>Aac	p.D120N	LIMK1_ENST00000418310.1_Missense_Mutation_p.D150N|LIMK1_ENST00000538333.3_Missense_Mutation_p.D86N|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	120	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D120N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CTTTATCGGTGACGGGGACAC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											105	66	79					7																	73511476		2203	4300	6503	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.358G>A	7.37:g.73511476G>A	ENSP00000336740:p.Asp120Asn		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D120N	ENST00000336180.2	37	c.358	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763759	0.89932	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.048337	0.85682	N	0.000000	D	0.92808	0.7713	M	0.70842	2.15	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93448	0.6799	10	0.72032	D	0.01	-30.0247	16.2928	0.82759	0.0:0.0:1.0:0.0	.	86;120	B7Z6I8;P53667	.;LIMK1_HUMAN	N	150;120;120;86;86	ENSP00000409717:D150N;ENSP00000336740:D120N;ENSP00000396480:D86N;ENSP00000444452:D86N	ENSP00000336740:D120N	D	+	1	0	LIMK1	73149412	1.000000	0.71417	0.891000	0.34965	0.535000	0.34838	9.341000	0.97041	2.444000	0.82710	0.650000	0.86243	GAC	LIMK1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.622	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	G	NM_002314		73511476	1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	0.998	A	A	73511476	G	A	73511476	3	1	58	1	0	0	0	0	1	0	0	0	8821	1290	45	1	372	1	LIMK1	7	73511476	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	619234	73511476	85627187	547	8297										
GTF2IRD1	9569	genome.wustl.edu	37	chr7	74016760	74016760	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgggacctcttaattactaGacctcagtactgaatcagga	8	11	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:74016760G>C	ENST00000265755.3	+	27	3273	c.2880G>C	c.(2878-2880)taG>taC	p.*960Y	GTF2IRD1_ENST00000476977.1_3'UTR|GTF2IRD1_ENST00000424337.2_Nonstop_Mutation_p.*945Y|GTF2IRD1_ENST00000455841.2_Nonstop_Mutation_p.*977Y	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	0					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.*960Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTAATTACTAGACCTCAGTAC	0.428																																																	1	Nonstop extension(1)	cervix(1)											111	104	106					7																	74016760		2203	4300	6503	SO:0001578	stop_lost	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2880G>C	7.37:g.74016760G>C	ENSP00000265755:p.*960Tyrext*13		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Nonstop_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.*960Y	ENST00000265755.3	37	c.2880	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973951	0.53720	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337	.	.	.	5.66	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7038	0.45944	0.1534:0.0:0.8466:0.0	.	.	.	.	Y	960;977;945	.	.	X	+	3	2	GTF2IRD1	73654696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.779000	0.55379	1.380000	0.46344	0.561000	0.74099	TAG	GTF2IRD1	-	NULL		0.428	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	G	NM_016328		74016760	1	no_errors	ENST00000265755	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	74016760	G	C	74016760	4	2	58	1	0	0	0	0	0	0	0	0	6888	937	33	1	2982	1	GTF2IRD1	7	74016760	Nonstop_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	505284	74016760	85121903	548	8298										
CACNA2D1	781	genome.wustl.edu	37	chr7	81624244	81624244	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccactttccccatcaatcatCttatttcgaatctaagagta	3	12	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:81624244C>G	ENST00000356253.5	-	21	1986	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K558N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	577					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K558N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATCAATCATCTTATTTCGAA	0.299																																																	1	Substitution - Missense(1)	cervix(1)											71	70	70					7																	81624244		2200	4288	6488	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1731G>C	7.37:g.81624244C>G	ENSP00000348589:p.Lys577Asn		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K577N	ENST00000356253.5	37	c.1731		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389196|3.389196	0.61956|0.61956	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.78707|.	-1.2;-1.2|.	5.29|5.29	1.65|1.65	0.23941|0.23941	.|.	0.047580|.	0.85682|.	D|.	0.000000|.	T|T	0.49915|0.49915	0.1585|0.1585	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	P|.	0.36789|.	0.57|.	B|.	0.39258|.	0.295|.	T|T	0.26258|0.26258	-1.0108|-1.0108	10|5	0.59425|.	D|.	0.04|.	-25.3952|-25.3952	8.6043|8.6043	0.33764|0.33764	0.0:0.2281:0.0:0.7719|0.0:0.2281:0.0:0.7719	.|.	558|.	P54289-2|.	.|.	N|T	558;577;577|76	ENSP00000349320:K558N;ENSP00000348589:K577N|.	ENSP00000284088:K577N|.	K|R	-|-	3|2	2|0	CACNA2D1|CACNA2D1	81462180|81462180	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	2.056000|2.056000	0.41355|0.41355	0.034000|0.034000	0.15491|0.15491	-0.302000|-0.302000	0.09304|0.09304	AAG|AGA	CACNA2D1	-	pfam_VDCC_a2/dsu		0.299	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		C			81624244	-1	no_errors	ENST00000356253	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81624244	C	G	81624244	3	3	58	1	0	0	0	0	1	0	0	0	2553	912	32	1	1681	1	CACNA2D1	7	81624244	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7607484	81624244	77514419	549	8299										
PCLO	27445	genome.wustl.edu	37	chr7	82545961	82545961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagctctgcttgtttctttcGaagttttgcagactcccttt	7	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82545961G>A	ENST00000333891.9	-	7	11678	c.11341C>T	c.(11341-11343)Cga>Tga	p.R3781*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.R501*|PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3781*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3781*(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTCTTTCGAAGTTTTGCA	0.443																																																	2	Substitution - Nonsense(2)	cervix(2)											126	113	117					7																	82545961		1904	4134	6038	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11341C>T	7.37:g.82545961G>A	ENSP00000334319:p.Arg3781*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R3781*	ENST00000333891.9	37	c.11341	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324827	0.81580	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	6.04	0.584	0.17422	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.497	0.87720	0.0:0.0:0.6521:0.3479	.	.	.	.	X	3781;3781;501	.	ENSP00000334319:R3781X	R	-	1	2	PCLO	82383897	0.976000	0.34144	0.808000	0.32385	0.966000	0.64601	1.593000	0.36686	0.140000	0.18849	-0.375000	0.07067	CGA	PCLO	-	NULL		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82545961	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	nonsense	SNP	0.768	A	A	82545961	G	A	82545961	4	1	58	1	0	0	0	0	0	1	0	0	11607	1066	37	1	4180	1	PCLO	7	82545961	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	921717	82545961	76592702	550	8300										
PCLO	27445	genome.wustl.edu	37	chr7	82583425	82583425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgtcagcaactggcccttCaggtttaggtactacagatt	10	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82583425C>T	ENST00000333891.9	-	5	7181	c.6844G>A	c.(6844-6846)Gaa>Aaa	p.E2282K	PCLO_ENST00000423517.2_Missense_Mutation_p.E2282K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2282K(2)|p.E2213K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGGCCCTTCAGGTTTAGGT	0.423																																																	3	Substitution - Missense(3)	cervix(3)											102	100	101					7																	82583425		1875	4119	5994	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6844G>A	7.37:g.82583425C>T	ENSP00000334319:p.Glu2282Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E2282K	ENST00000333891.9	37	c.6844	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324474	0.10900	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15487	2.42;2.42	5.59	2.41	0.29592	.	.	.	.	.	T	0.10465	0.0256	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.25502	-1.0130	9	0.87932	D	0	.	6.8557	0.24040	0.0:0.5784:0.0:0.4216	.	2282;2282	Q9Y6V0-5;Q9Y6V0-6	.;.	K	2213;2282;2282	ENSP00000334319:E2282K;ENSP00000388393:E2282K	ENSP00000334319:E2282K	E	-	1	0	PCLO	82421361	0.005000	0.15991	0.011000	0.14972	0.123000	0.20343	0.662000	0.25038	0.727000	0.32360	0.603000	0.83216	GAA	PCLO	-	NULL		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82583425	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.003	T	T	82583425	C	T	82583425	3	4	58	1	0	0	0	0	1	0	0	0	11607	835	29	1	8685	1	PCLO	7	82583425	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	37464	82583425	76555238	551	8301										
PCLO	27445	genome.wustl.edu	37	chr7	82583502	82583502	+	Missense_Mutation	SNP	C	C	T													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caatatgatcagcactagctCtaccatctggtggggcagtc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82583502C>T	ENST00000333891.9	-	5	7104	c.6767G>A	c.(6766-6768)aGa>aAa	p.R2256K	PCLO_ENST00000423517.2_Missense_Mutation_p.R2256K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R2256K(2)|p.R2187K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCACTAGCTCTACCATCTGG	0.393																																																	3	Substitution - Missense(3)	cervix(3)											76	73	74					7																	82583502		1872	4096	5968	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6767G>A	7.37:g.82583502C>T	ENSP00000334319:p.Arg2256Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R2256K	ENST00000333891.9	37	c.6767	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	8.743	0.919362	0.17982	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15256	2.44;2.44	5.7	3.58	0.41010	.	.	.	.	.	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.28267	-1.0049	9	0.87932	D	0	.	1.7564	0.02983	0.1995:0.4515:0.1231:0.2259	.	2256;2256	Q9Y6V0-5;Q9Y6V0-6	.;.	K	2187;2256;2256	ENSP00000334319:R2256K;ENSP00000388393:R2256K	ENSP00000334319:R2256K	R	-	2	0	PCLO	82421438	0.000000	0.05858	0.163000	0.22734	0.608000	0.37181	0.424000	0.21330	1.414000	0.47017	0.603000	0.83216	AGA	PCLO	-	NULL		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82583502	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	T	T	82583502	C	T	82583502	3	4	58	1	0	0	0	0	1	0	0	0	11607	913	32	1	8762	1	PCLO	7	82583502	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	77	82583502	76555161	552	8302	42	2								
PCLO	27445	genome.wustl.edu	37	chr7	82583509	82583509	+	Missense_Mutation	SNP	C	C	T													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcagcactagctctaccatCtggtggggcagtccgatcta							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82583509C>T	ENST00000333891.9	-	5	7097	c.6760G>A	c.(6760-6762)Gat>Aat	p.D2254N	PCLO_ENST00000423517.2_Missense_Mutation_p.D2254N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D2254N(2)|p.D2185N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCTACCATCTGGTGGGGCA	0.388																																																	3	Substitution - Missense(3)	cervix(3)											73	71	71					7																	82583509		1867	4093	5960	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6760G>A	7.37:g.82583509C>T	ENSP00000334319:p.Asp2254Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D2254N	ENST00000333891.9	37	c.6760	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	7.938	0.742113	0.15642	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.38	5.7	4.8	0.61643	.	.	.	.	.	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	B;B	0.30973	0.302;0.302	B;B	0.33620	0.109;0.167	T	0.12604	-1.0541	9	0.87932	D	0	.	5.7004	0.17879	0.1293:0.6293:0.159:0.0824	.	2254;2254	Q9Y6V0-5;Q9Y6V0-6	.;.	N	2185;2254;2254	ENSP00000334319:D2254N;ENSP00000388393:D2254N	ENSP00000334319:D2254N	D	-	1	0	PCLO	82421445	0.000000	0.05858	0.534000	0.28014	0.449000	0.32228	0.323000	0.19593	2.690000	0.91761	0.603000	0.83216	GAT	PCLO	-	NULL		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82583509	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	T	T	82583509	C	T	82583509	3	4	58	1	0	0	0	0	1	0	0	0	11607	913	32	1	8769	1	PCLO	7	82583509	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7	82583509	76555154	553	8303	42	2								
PCLO	27445	genome.wustl.edu	37	chr7	82764504	82764504	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggaggggttgttttctcttCagcttgtgactgtactttgg	13	6	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82764504C>T	ENST00000333891.9	-	3	2699	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	PCLO_ENST00000423517.2_Missense_Mutation_p.E788K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E788K(2)|p.E734K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTCTCTTCAGCTTGTGAC	0.438																																																	3	Substitution - Missense(3)	cervix(3)											237	211	219					7																	82764504		1888	4127	6015	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2362G>A	7.37:g.82764504C>T	ENSP00000334319:p.Glu788Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E788K	ENST00000333891.9	37	c.2362	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	3.631	-0.075567	0.07184	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.82	2.92	0.33932	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.38256	D	0.941755	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.11817	-1.0572	9	0.87932	D	0	.	12.008	0.53270	0.0:0.3825:0.494:0.1235	.	788;788	Q9Y6V0-5;Q9Y6V0-6	.;.	K	734;788;788	ENSP00000334319:E788K;ENSP00000388393:E788K	ENSP00000334319:E788K	E	-	1	0	PCLO	82602440	0.347000	0.24853	0.912000	0.35992	0.073000	0.16967	1.527000	0.35975	0.321000	0.23259	-0.353000	0.07706	GAA	PCLO	-	NULL		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82764504	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.600	T	T	82764504	C	T	82764504	3	4	58	1	0	0	0	0	1	0	0	0	11607	835	29	1	13175	1	PCLO	7	82764504	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	180995	82764504	76374159	554	8304										
CDK14	5218	genome.wustl.edu	37	chr7	90419921	90419921	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggtagctctgaaggtgatCaggctgcaggaagaagaagg	16	5	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:90419921C>T	ENST00000380050.3	+	5	629	c.498C>T	c.(496-498)atC>atT	p.I166I	CDK14_ENST00000406263.1_Silent_p.I120I|CDK14_ENST00000436577.2_Silent_p.I37I|CDK14_ENST00000265741.3_Silent_p.I148I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I148I(1)|p.I166I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGAAGGTGATCAGGCTGCAGG	0.413																																					GBM(83;1228 1256 8311 16577 31299)												2	Substitution - coding silent(2)	cervix(2)											158	154	155					7																	90419921		2203	4300	6503	SO:0001819	synonymous_variant	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.498C>T	7.37:g.90419921C>T			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Nonsense_Mutation	SNP	NULL	p.Q89*	ENST00000380050.3	37	c.265		7																																																																																			CDK14	-	NULL		0.413	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	C	NM_012395		90419921	1	no_errors	ENST00000431029	ensembl	human	known	70_37	nonsense	SNP	0.984	T	T	90419921	C	T	90419921	2	4	58	1	0	0	0	0	0	0	0	1	3135	816	29	1		1	CDK14	7	90419921	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7655417	90419921	68718742	555	8305										
FBXO24	26261	genome.wustl.edu	37	chr7	100189465	100189465	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatgccctggtctccaccctCggccagatgcagtggaagcg	12	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:100189465C>T	ENST00000241071.6	+	4	820	c.498C>T	c.(496-498)ctC>ctT	p.L166L	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.L152L|FBXO24_ENST00000468962.1_Silent_p.L154L|FBXO24_ENST00000427939.2_Silent_p.L204L|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.L152L|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	166					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L166L(1)|p.L204L(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTCCACCCTCGGCCAGATGC	0.577																																																	2	Substitution - coding silent(2)	cervix(2)											90	83	85					7																	100189465		2203	4300	6503	SO:0001819	synonymous_variant	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.498C>T	7.37:g.100189465C>T			A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.L204	ENST00000241071.6	37	c.612	CCDS5698.1	7																																																																																			FBXO24	-	NULL		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	C			100189465	1	no_errors	ENST00000427939	ensembl	human	known	70_37	silent	SNP	0.990	T	T	100189465	C	T	100189465	2	4	58	1	0	0	0	0	0	0	0	1	5753	871	31	1		1	FBXO24	7	100189465	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9769544	100189465	58949198	556	8306										
MUC17	140453	genome.wustl.edu	37	chr7	100685909	100685909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccatttcatcttctgcaactCttgacagcaccaccatgtct	4	15	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:100685909C>G	ENST00000306151.4	+	3	11276	c.11212C>G	c.(11212-11214)Ctt>Gtt	p.L3738V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3738	Ser-rich.				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.L3738V(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)					TTCTGCAACTCTTGACAGCAC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											230	213	219					7																	100685909		2203	4300	6503	SO:0001583	missense	140453			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.11212C>G	7.37:g.100685909C>G	ENSP00000302716:p.Leu3738Val		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.L3738V	ENST00000306151.4	37	c.11212	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	2.747	-0.260879	0.05791	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.63	-3.25	0.05079	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.47409	0.895	P	0.44477	0.451	T	0.41161	-0.9524	9	0.15066	T	0.55	.	6.115	0.20122	0.1905:0.245:0.5645:0.0	.	3738	Q685J3	MUC17_HUMAN	V	3738	ENSP00000302716:L3738V	ENSP00000302716:L3738V	L	+	1	0	MUC17	100472629	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.792000	0.01756	-1.487000	0.01849	-0.738000	0.03535	CTT	MUC17	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100685909	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.000	G	G	100685909	C	G	100685909	3	3	58	1	0	0	0	0	1	0	0	0	9997	913	32	1	11222	1	MUC17	7	100685909	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	496444	100685909	58452754	557	8307										
VGF	7425	genome.wustl.edu	37	chr7	100806313	100806313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcacgtgctcgatgtaattCtccagctcctcctgctcctg	8	15	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:100806313C>G	ENST00000249330.2	-	2	2051	c.1812G>C	c.(1810-1812)gaG>gaC	p.E604D	VGF_ENST00000445482.2_Missense_Mutation_p.E604D	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	604					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.E604D(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CGATGTAATTCTCCAGCTCCT	0.791																																																	1	Substitution - Missense(1)	cervix(1)											8	10	9					7																	100806313		2144	4182	6326	SO:0001583	missense	7425			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1812G>C	7.37:g.100806313C>G	ENSP00000249330:p.Glu604Asp		Q9UDW8	Missense_Mutation	SNP	NULL	p.E604D	ENST00000249330.2	37	c.1812	CCDS5712.1	7	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110844	0.56398	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	3.86	2.98	0.34508	.	.	.	.	.	T	0.34861	0.0912	N	0.19112	0.55	0.34255	D	0.67927	B	0.21606	0.058	B	0.19391	0.025	T	0.40496	-0.9560	8	0.56958	D	0.05	-4.7716	7.0012	0.24811	0.0:0.8738:0.0:0.1262	.	604	O15240	VGF_HUMAN	D	604	.	ENSP00000249330:E604D	E	-	3	2	VGF	100593033	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.175000	0.42491	0.842000	0.35045	0.484000	0.47621	GAG	VGF	-	NULL		0.791	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGF	HGNC	protein_coding	OTTHUMT00000347462.1	C	NM_003378		100806313	-1	no_errors	ENST00000249330	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100806313	C	G	100806313	3	3	58	1	0	0	0	0	1	0	0	0	17188	912	32	1	39	1	VGF	7	100806313	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	120404	100806313	58332350	558	8308										
CDHR3	222256	genome.wustl.edu	37	chr7	105621546	105621546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccaggtaacagatgtgaacGagccacctcagtttcaaggc	10	11	2	2	rs545341223		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:105621546G>A	ENST00000317716.9	+	3	462	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.E128K|CDHR3_ENST00000478080.1_Missense_Mutation_p.E40K|CDHR3_ENST00000541203.1_Missense_Mutation_p.E128K|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E128K(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGATGTGAACGAGCCACCTCA	0.512													G|||	1	0.000199681	0	0	5008	,	,		20455	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	cervix(2)											73	68	70					7																	105621546		2018	4188	6206	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.382G>A	7.37:g.105621546G>A	ENSP00000325954:p.Glu128Lys		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E128K	ENST00000317716.9	37	c.382	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725120	0.89298	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080;ENST00000541203	T;T;T;T	0.59502	0.4;0.4;0.26;0.28	5.02	5.02	0.67125	Cadherin (2);	0.000000	0.64402	D	0.000001	T	0.76456	0.3990	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.78879	-0.2030	10	0.87932	D	0	-30.507	17.6187	0.88075	0.0:0.0:1.0:0.0	.	115;128	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	K	128;128;40;128	ENSP00000439766:E128K;ENSP00000325954:E128K;ENSP00000417771:E40K;ENSP00000443733:E128K	ENSP00000325954:E128K	E	+	1	0	CDHR3	105408782	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	6.360000	0.73064	2.774000	0.95407	0.561000	0.74099	GAG	CDHR3	-	smart_Cadherin,pfscan_Cadherin		0.512	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	G	NM_152750		105621546	1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105621546	G	A	105621546	3	1	58	1	0	0	0	0	1	0	0	0	3125	1059	37	1	392	1	CDHR3	7	105621546	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4815233	105621546	53517117	559	8309										
CDHR3	222256	genome.wustl.edu	37	chr7	105635288	105635288	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggactttgaagcaggacacaGaaggtagtcttgctattgac	12	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:105635288G>C	ENST00000317716.9	+	5	685	c.605G>C	c.(604-606)aGa>aCa	p.R202T	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.R202T|CDHR3_ENST00000478080.1_Missense_Mutation_p.R114T|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R202T(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCAGGACACAGAAGGTAGTCT	0.463																																																	2	Substitution - Missense(2)	cervix(2)											70	62	64					7																	105635288		1921	4143	6064	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.605G>C	7.37:g.105635288G>C	ENSP00000325954:p.Arg202Thr		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R202T	ENST00000317716.9	37	c.605	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035076	0.19590	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.60920	0.15;0.15;0.15	5.05	-7.89	0.01174	Cadherin (4);Cadherin-like (1);	1.746550	0.02212	N	0.063317	T	0.40956	0.1138	L	0.41492	1.28	0.46167	D	0.998904	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.09930	-1.0652	10	0.25106	T	0.35	-0.1496	4.5304	0.12002	0.5961:0.1982:0.1063:0.0994	.	189;202	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	T	202;202;114	ENSP00000439766:R202T;ENSP00000325954:R202T;ENSP00000417771:R114T	ENSP00000325954:R202T	R	+	2	0	CDHR3	105422524	0.002000	0.14202	0.041000	0.18516	0.825000	0.46686	-0.577000	0.05847	-1.352000	0.02194	0.655000	0.94253	AGA	CDHR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	G	NM_152750		105635288	1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	0.002	C	C	105635288	G	C	105635288	3	2	58	1	0	0	0	0	1	0	0	0	3125	942	33	1	623	1	CDHR3	7	105635288	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	13742	105635288	53503375	560	8310										
CDHR3	222256	genome.wustl.edu	37	chr7	105662778	105662778	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctacttgtctacgtaactGatgacaacttgatgtctgac	8	9	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:105662778G>A	ENST00000317716.9	+	14	2040	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.D654N|CDHR3_ENST00000478080.1_Missense_Mutation_p.D566N	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	654	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D654N(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTACGTAACTGATGACAACTT	0.463																																																	2	Substitution - Missense(2)	cervix(2)											205	191	195					7																	105662778		2002	4191	6193	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1960G>A	7.37:g.105662778G>A	ENSP00000325954:p.Asp654Asn		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D654N	ENST00000317716.9	37	c.1960	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544098	0.86022	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.70164	-0.46;-0.46;0.45	5.39	5.39	0.77823	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84713	0.0735	10	0.87932	D	0	-30.8469	19.52	0.95182	0.0:0.0:1.0:0.0	.	641;654	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	N	654;654;566	ENSP00000439766:D654N;ENSP00000325954:D654N;ENSP00000417771:D566N	ENSP00000325954:D654N	D	+	1	0	CDHR3	105450014	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.103000	0.77014	2.695000	0.91970	0.655000	0.94253	GAT	CDHR3	-	superfamily_Cadherin-like,pfscan_Cadherin		0.463	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	G	NM_152750		105662778	1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105662778	G	A	105662778	3	1	58	1	0	0	0	0	1	0	0	0	3125	1290	45	1	2014	1	CDHR3	7	105662778	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	27490	105662778	53475885	561	8311										
BCAP29	55973	genome.wustl.edu	37	chr7	107240940	107240940	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgaaaactgaattaaggaaGacttcagatggtaactttgt	9	5	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:107240940G>C	ENST00000005259.4	+	6	918	c.579G>C	c.(577-579)aaG>aaC	p.K193N	BCAP29_ENST00000445771.2_Missense_Mutation_p.K193N|BCAP29_ENST00000379119.2_Missense_Mutation_p.K193N|BCAP29_ENST00000494086.1_3'UTR|snoU109_ENST00000459477.1_RNA|BCAP29_ENST00000379121.2_Missense_Mutation_p.K99N|BCAP29_ENST00000379117.2_Missense_Mutation_p.K193N|BCAP29_ENST00000465919.1_Missense_Mutation_p.K99N	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	193					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K193N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AATTAAGGAAGACTTCAGATG	0.318																																																	1	Substitution - Missense(1)	cervix(1)											65	67	66					7																	107240940		2203	4298	6501	SO:0001583	missense	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.579G>C	7.37:g.107240940G>C	ENSP00000005259:p.Lys193Asn		G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.K193N	ENST00000005259.4	37	c.579	CCDS34731.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.14|11.14	1.552108|1.552108	0.27739|0.27739	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000436699|ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.|T	.|0.48522	.|0.81	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.349613	.|0.35708	.|N	.|0.003028	T|T	0.55016|0.55016	0.1894|0.1894	M|M	0.64404|0.64404	1.975|1.975	0.37296|0.37296	D|D	0.908483|0.908483	.|D;P;D	.|0.65815	.|0.985;0.93;0.995	.|P;P;P	.|0.57244	.|0.721;0.612;0.816	T|T	0.57464|0.57464	-0.7807|-0.7807	5|10	.|0.23891	.|T	.|0.37	-34.1918|-34.1918	8.4686|8.4686	0.32971|0.32971	0.1664:0.0:0.8336:0.0|0.1664:0.0:0.8336:0.0	.|.	.|193;193;193	.|G5E9L4;C9JTE9;Q9UHQ4	.|.;.;BAP29_HUMAN	H|N	107|193;99;193;193;193;193;193;150;99	.|ENSP00000368416:K99N	.|ENSP00000005259:K193N	D|K	+|+	1|3	0|2	BCAP29|BCAP29	107028176|107028176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.203000|0.203000	0.24098|0.24098	1.105000|1.105000	0.31086|0.31086	2.548000|2.548000	0.85928|0.85928	0.655000|0.655000	0.94253|0.94253	GAC|AAG	BCAP29	-	pfam_Bap31		0.318	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	G	NM_018844		107240940	1	no_errors	ENST00000379119	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107240940	G	C	107240940	3	2	58	1	0	0	0	0	1	0	0	0	1347	933	33	1	597	1	BCAP29	7	107240940	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1578162	107240940	51897723	562	8312										
SLC26A3	1811	genome.wustl.edu	37	chr7	107434305	107434305	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacaaagagaggacaattctCttggccttttgtggggaaca	11	7	1	1	rs386833456		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:107434305C>T	ENST00000340010.5	-	3	337	c.153G>A	c.(151-153)aaG>aaA	p.K51K	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	51					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.K51K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGACAATTCTCTTGGCCTTTT	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											98	92	94					7																	107434305		2203	4300	6503	SO:0001819	synonymous_variant	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.153G>A	7.37:g.107434305C>T				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K51	ENST00000340010.5	37	c.153	CCDS5748.1	7																																																																																			SLC26A3	-	NULL		0.423	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107434305	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	silent	SNP	0.991	T	T	107434305	C	T	107434305	2	4	58	1	0	0	0	0	0	0	0	1	14548	912	32	1		1	SLC26A3	7	107434305	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	193365	107434305	51704358	563	8313										
CFTR	1080	genome.wustl.edu	37	chr7	117232505	117232505	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcagcactggccccacgcttCaggcacgaaggaggcagtct	12	14	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:117232505C>T	ENST00000003084.6	+	14	2416	c.2284C>T	c.(2284-2286)Cag>Tag	p.Q762*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q701*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	762					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.Q762*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CCCCACGCTTCAGGCACGAAG	0.522									Cystic Fibrosis																																								1	Substitution - Nonsense(1)	cervix(1)											81	59	67					7																	117232505		2203	4300	6503	SO:0001587	stop_gained	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2284C>T	7.37:g.117232505C>T	ENSP00000003084:p.Gln762*		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.Q762*	ENST00000003084.6	37	c.2284	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235329	0.79800	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.35	5.35	0.76521	.	0.354569	0.33553	N	0.004793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-1.4096	15.0824	0.72125	0.1424:0.8576:0.0:0.0	.	.	.	.	X	762;701;732	.	ENSP00000003084:Q762X	Q	+	1	0	CFTR	117019741	0.465000	0.25815	0.064000	0.19789	0.082000	0.17680	1.924000	0.40065	2.653000	0.90120	0.563000	0.77884	CAG	CFTR	-	tigrfam_cAMP_cl_channel		0.522	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	C	NM_000492		117232505	1	no_errors	ENST00000003084	ensembl	human	known	70_37	nonsense	SNP	0.071	T	T	117232505	C	T	117232505	4	4	58	1	0	0	0	0	0	1	0	0	3299	827	29	1	2338	1	CFTR	7	117232505	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9798200	117232505	41906158	564	8314										
PTPRZ1	5803	genome.wustl.edu	37	chr7	121659177	121659177	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaattttctctgactacaGaggccagtaatagtagccat	7	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:121659177G>C	ENST00000393386.2	+	13	5254		c.e13-1		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTGACTACAGAGGCCAGTAA	0.423																																																	2	Unknown(2)	cervix(2)											117	109	112					7																	121659177		2202	4300	6502	SO:0001630	splice_region_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4844-1G>C	7.37:g.121659177G>C			A4D0W5|C9JFM0|O76043|Q9UDR6	Splice_Site	SNP	-	e13-1	ENST00000393386.2	37	c.4844-1	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590764	0.86851	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1031	0.93282	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRZ1	121446413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.539000	0.85634	0.585000	0.79938	.	PTPRZ1	-	-		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	G	NM_002851	Intron	121659177	1	no_errors	ENST00000393386	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	121659177	G	C	121659177	5	2	58	1	0	0	0	0	0	0	1	0	12844	956	33	1	4893	1	PTPRZ1	7	121659177	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4426672	121659177	37479486	565	8315										
NDUFA5	4698	genome.wustl.edu	37	chr7	123182233	123182233	+	Frame_Shift_Del	DEL	C	C	-													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actaatggctcccatagtttCcattccctcatttttcttgc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:123182233delC	ENST00000355749.2	-	5	750	c.291delG	c.(289-291)tggfs	p.W97fs	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000471770.1_Frame_Shift_Del_p.W97fs	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	97					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						CCCATAGTTTCCATTCCCTCA	0.358																																																	0													101	97	99					7																	123182233		2203	4300	6503	SO:0001589	frameshift_variant	4698				CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"Mitochondrial respiratory chain complex / Complex I"	7688	protein-coding gene	gene with protein product	"complex I 13kDa subunit B", "ubiquinone reductase", "type I dehydrogenase", "NADH-ubiquinone oxidoreductase 13 kDa-B subunit"	601677	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.291delG	7.37:g.123182233delC	ENSP00000347988:p.Trp97fs		B2RD98|Q5H9R2|Q6IRX7	Frame_Shift_Del	DEL	pfam_ETC_CI_29_9	p.W97fs	ENST00000355749.2	37	c.291	CCDS5788.1	7																																																																																			NDUFA5	-	NULL		0.358	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA5	HGNC	protein_coding	OTTHUMT00000348533.1	C	NM_005000		123182233	-1	no_errors	ENST00000355749	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	123182233	C	-	123182233	7	5	58	1	0	1	0	1	0	0	0	0	10292	856	30	0	63	0	NDUFA5	7	123182233	Frame_Shift_Del	DEL	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1523056	123182233	35956430	566	8316										
FAM71F2	346653	genome.wustl.edu	37	chr7	128315720	128315720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgacccatgtacctgaggctGatttccaggtcactaagccc	9	13	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:128315720G>A	ENST00000480462.1	+	2	278	c.172G>A	c.(172-174)Gat>Aat	p.D58N	FAM71F2_ENST00000378704.3_Intron|FAM71F2_ENST00000477515.1_Missense_Mutation_p.D58N|FAM71F2_ENST00000460349.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	58								p.D58N(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ACCTGAGGCTGATTTCCAGGT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											51	54	53					7																	128315720		1994	4171	6165	SO:0001583	missense	346653			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.172G>A	7.37:g.128315720G>A	ENSP00000420140:p.Asp58Asn		Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	pfam_DUF3699	p.D58N	ENST00000480462.1	37	c.172	CCDS47701.1	7	.	.	.	.	.	.	.	.	.	.	G	8.203	0.798564	0.16397	.	.	ENSG00000205085	ENST00000480462;ENST00000477515	T;T	0.35421	3.24;1.31	4.67	-0.4	0.12411	.	.	.	.	.	T	0.19604	0.0471	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05852	-1.0860	9	0.54805	T	0.06	-7.5248	3.5007	0.07672	0.3857:0.0:0.4414:0.1729	.	58	Q6NXP2	F71F2_HUMAN	N	58	ENSP00000420140:D58N;ENSP00000419649:D58N	ENSP00000419649:D58N	D	+	1	0	FAM71F2	128102956	0.888000	0.30383	0.629000	0.29254	0.164000	0.22412	1.390000	0.34464	-0.178000	0.10672	-0.259000	0.10710	GAT	FAM71F2	-	NULL		0.577	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FAM71F2	HGNC	protein_coding	OTTHUMT00000350537.1	G			128315720	1	no_errors	ENST00000480462	ensembl	human	known	70_37	missense	SNP	0.498	A	A	128315720	G	A	128315720	3	1	58	1	0	0	0	0	1	0	0	0	5631	1290	45	1	178	1	FAM71F2	7	128315720	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5133487	128315720	30822943	567	8317										
OPN1SW	611	genome.wustl.edu	37	chr7	128414594	128414594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgagtgtaggagaagcagatGagggagagaggcacaatgaa	17	3	0	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:128414594G>A	ENST00000249389.2	-	3	644	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	215					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.L215L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGAAGCAGATGAGGGAGAGAG	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											131	119	123					7																	128414594		2203	4300	6503	SO:0001819	synonymous_variant	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.645C>T	7.37:g.128414594G>A			Q13877	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.L215	ENST00000249389.2	37	c.645	CCDS5806.1	7																																																																																			OPN1SW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	G	NM_001708		128414594	-1	no_errors	ENST00000249389	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128414594	G	A	128414594	2	1	58	1	0	0	0	0	0	0	0	1	10904	1277	45	1		1	OPN1SW	7	128414594	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	98874	128414594	30724069	568	8318										
FLNC	2318	genome.wustl.edu	37	chr7	128481359	128481359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtgacgatgaggacatccGagactcacccttcattgccc	9	14	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:128481359G>C	ENST00000325888.8	+	12	2210	c.1949G>C	c.(1948-1950)cGa>cCa	p.R650P	FLNC_ENST00000346177.6_Missense_Mutation_p.R650P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	650					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R650P(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGACATCCGAGACTCACCC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											193	204	200					7																	128481359		2162	4243	6405	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1949G>C	7.37:g.128481359G>C	ENSP00000327145:p.Arg650Pro		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R650P	ENST00000325888.8	37	c.1949	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068946	0.36470	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88896	-2.44;-2.44	5.2	5.2	0.72013	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.077747	0.50627	D	0.000108	T	0.67268	0.2875	N	0.00405	-1.535	0.43583	D	0.995924	P;P	0.42483	0.781;0.719	P;B	0.45071	0.468;0.403	T	0.70070	-0.4973	10	0.14252	T	0.57	.	6.7707	0.23593	0.2183:0.0:0.7817:0.0	.	650;650	Q14315-2;Q14315	.;FLNC_HUMAN	P	650	ENSP00000327145:R650P;ENSP00000344002:R650P	ENSP00000327145:R650P	R	+	2	0	FLNC	128268595	0.926000	0.31397	0.978000	0.43139	0.956000	0.61745	2.596000	0.46205	2.430000	0.82344	0.491000	0.48974	CGA	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128481359	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	0.997	C	C	128481359	G	C	128481359	3	2	58	1	0	0	0	0	1	0	0	0	5953	1058	37	1	1995	1	FLNC	7	128481359	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	66765	128481359	30657304	569	8319										
CALD1	800	genome.wustl.edu	37	chr7	134618280	134618280	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttcagatgagatttcccatCatgaaaagatggaagaggaa	11	5	2	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:134618280C>A	ENST00000361675.2	+	5	989	c.760C>A	c.(760-762)Cat>Aat	p.H254N	CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	254					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.H254N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATTTCCCATCATGAAAAGAT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											52	53	53					7																	134618280		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.760C>A	7.37:g.134618280C>A	ENSP00000354826:p.His254Asn		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.H254N	ENST00000361675.2	37	c.760	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894773	0.02491	.	.	ENSG00000122786	ENST00000361675	T	0.40225	1.04	4.97	-9.94	0.00449	.	1.726380	0.04059	N	0.306073	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15065	-1.0450	9	.	.	.	0.7857	12.0924	0.53736	0.154:0.5781:0.268:0.0	.	254	Q05682	CALD1_HUMAN	N	254	ENSP00000354826:H254N	.	H	+	1	0	CALD1	134268820	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.324000	0.02690	-2.129000	0.00817	-1.098000	0.02139	CAT	CALD1	-	pfam_Caldesmon_LSP		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	C	NM_033138		134618280	1	no_errors	ENST00000361675	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	134618280	C	A	134618280	3	1	58	1	0	0	0	0	1	0	0	0	2586	826	29	3	827	3	CALD1	7	134618280	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6136921	134618280	24520383	570	8320										
DGKI	9162	genome.wustl.edu	37	chr7	137082127	137082127	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaaggcaacactcacgtttCactgtctgccatatccaata	5	12	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:137082127C>A	ENST00000288490.5	-	32	2977	c.2977G>T	c.(2977-2979)Gaa>Taa	p.E993*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.E975*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.E662*|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Nonsense_Mutation_p.E1006*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	993					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.E993*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACTCACGTTTCACTGTCTGCC	0.328																																																	2	Substitution - Nonsense(2)	cervix(2)											100	95	97					7																	137082127		2203	4299	6502	SO:0001587	stop_gained	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2977G>T	7.37:g.137082127C>A	ENSP00000288490:p.Glu993*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E996*	ENST00000288490.5	37	c.2986	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.789693	0.99468	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	4.54	4.54	0.55810	.	0.055899	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.0109	0.80402	0.0:1.0:0.0:0.0	.	.	.	.	X	662;910;996;993;975	.	ENSP00000288490:E993X	E	-	1	0	DGKI	136732667	0.999000	0.42202	0.968000	0.41197	0.950000	0.60333	4.991000	0.63883	2.520000	0.84964	0.655000	0.94253	GAA	DGKI	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.328	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	C	NM_004717		137082127	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	nonsense	SNP	0.995	A	A	137082127	C	A	137082127	4	1	58	1	0	0	0	0	0	1	0	0	4481	835	29	3	232	3	DGKI	7	137082127	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2463847	137082127	22056536	571	8321										
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138758630	138758630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catactgaatccatgtgccaGattcattcttccaataccaa	4	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:138758630G>A	ENST00000242351.5	-	7	2160	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S737F|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S615F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	615	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.S615F(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCATGTGCCAGATTCATTCTT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											134	123	126					7																	138758630		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1844C>T	7.37:g.138758630G>A	ENSP00000242351:p.Ser615Phe		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S615F	ENST00000242351.5	37	c.1844	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872782	0.17322	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.32753	1.44;1.44;1.44	5.03	-4.52	0.03472	WWE domain (1);	1.504460	0.03795	N	0.263424	T	0.13457	0.0326	N	0.16602	0.42	0.09310	N	1	B;B	0.21688	0.059;0.037	B;B	0.25884	0.064;0.012	T	0.15009	-1.0452	10	0.09590	T	0.72	.	0.1943	0.00138	0.2693:0.2283:0.1565:0.346	.	615;615	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	F	615;737;615;375	ENSP00000242351:S615F;ENSP00000418385:S737F;ENSP00000419855:S615F	ENSP00000242351:S615F	S	-	2	0	ZC3HAV1	138409170	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-0.691000	0.05133	-0.473000	0.06871	-0.169000	0.13324	TCT	ZC3HAV1	-	pfscan_WWE-dom		0.468	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	G	NM_020119		138758630	-1	no_errors	ENST00000242351	ensembl	human	known	70_37	missense	SNP	0.000	A	A	138758630	G	A	138758630	3	1	58	1	0	0	0	0	1	0	0	0	17605	942	33	1	896	1	ZC3HAV1	7	138758630	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1676503	138758630	20380033	572	8322										
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138764300	138764300	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaagcaggtccagcatcctGaatcctaggtgatgatattt	11	8	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:138764300G>C	ENST00000242351.5	-	4	1703	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.Q463E|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.Q463E	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	463					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.Q463E(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCAGCATCCTGAATCCTAGGT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											115	111	112					7																	138764300		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1387C>G	7.37:g.138764300G>C	ENSP00000242351:p.Gln463Glu		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q463E	ENST00000242351.5	37	c.1387	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515821	0.27123	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.17691	3.26;3.22;2.26	4.58	2.59	0.31030	.	0.918642	0.09143	N	0.842676	T	0.10035	0.0246	L	0.27053	0.805	0.09310	N	1	B;P	0.43750	0.053;0.816	B;B	0.34093	0.032;0.175	T	0.15464	-1.0436	10	0.21014	T	0.42	.	9.3504	0.38133	0.0:0.0:0.6131:0.3869	.	463;463	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	E	463;463;463;223	ENSP00000242351:Q463E;ENSP00000418385:Q463E;ENSP00000419855:Q463E	ENSP00000242351:Q463E	Q	-	1	0	ZC3HAV1	138414840	0.003000	0.15002	0.002000	0.10522	0.011000	0.07611	1.088000	0.30877	1.242000	0.43836	0.655000	0.94253	CAG	ZC3HAV1	-	NULL		0.453	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	G	NM_020119		138764300	-1	no_errors	ENST00000242351	ensembl	human	known	70_37	missense	SNP	0.001	C	C	138764300	G	C	138764300	3	2	58	1	0	0	0	0	1	0	0	0	17605	1299	45	1	1365	1	ZC3HAV1	7	138764300	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5670	138764300	20374363	573	8323										
UBN2	254048	genome.wustl.edu	37	chr7	138946461	138946461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggtctacctgtacttcttGaaaaacgtatcgaagacctt	8	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:138946461G>C	ENST00000473989.3	+	6	1369	c.1369G>C	c.(1369-1371)Gaa>Caa	p.E457Q	UBN2_ENST00000288561.8_Missense_Mutation_p.E374Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	457						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E374Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGTACTTCTTGAAAAACGTAT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											45	42	43					7																	138946461		1879	4111	5990	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1369G>C	7.37:g.138946461G>C	ENSP00000418648:p.Glu457Gln		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.E457Q	ENST00000473989.3	37	c.1369	CCDS43655.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273915|4.273915	0.80580|0.80580	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000473989;ENST00000288561|ENST00000483726	T;T|T	0.44083|0.56103	0.93;0.93|0.48	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.284576|.	0.41712|.	D|.	0.000837|.	T|T	0.65974|0.65974	0.2743|0.2743	L|L	0.55990|0.55990	1.75|1.75	0.41796|0.41796	D|D	0.989899|0.989899	D|.	0.71674|.	0.998|.	D|.	0.66084|.	0.941|.	T|T	0.58869|0.58869	-0.7560|-0.7560	9|6	.|.	.|.	.|.	-19.8885|-19.8885	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	457|.	Q6ZU65|.	UBN2_HUMAN|.	Q|F	457;374|225	ENSP00000418648:E457Q;ENSP00000288561:E374Q|ENSP00000417846:L225F	.|.	E|L	+|+	1|3	0|2	UBN2|UBN2	138597001|138597001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.845000|4.845000	0.62853|0.62853	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|TTG	UBN2	-	NULL		0.418	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	G	NM_173569		138946461	1	no_errors	ENST00000473989	ensembl	human	known	70_37	missense	SNP	0.994	C	C	138946461	G	C	138946461	3	2	58	1	0	0	0	0	1	0	0	0	16924	1291	45	1	1391	1	UBN2	7	138946461	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	182161	138946461	20192202	574	8324										
EPHB6	2051	genome.wustl.edu	37	chr7	142563810	142563810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggagctggggggtcgagggGacctgctcttcaatgtcgtg	19	8	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:142563810G>A	ENST00000392957.2	+	9	1985	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	EPHB6_ENST00000442129.1_Missense_Mutation_p.D400N|EPHB6_ENST00000411471.2_Missense_Mutation_p.D123N	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	400	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.D385N(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGTCGAGGGGACCTGCTCTT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											32	28	30					7																	142563810		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1198G>A	7.37:g.142563810G>A	ENSP00000376684:p.Asp400Asn		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D400N	ENST00000392957.2	37	c.1198	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	33	5.250626	0.95305	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.58210	0.35;0.35;0.35	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000499	T	0.77039	0.4072	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.82608	-0.0373	10	0.87932	D	0	.	17.212	0.86932	0.0:0.0:1.0:0.0	.	400	O15197	EPHB6_HUMAN	N	400;400;123	ENSP00000376684:D400N;ENSP00000410789:D400N;ENSP00000409061:D123N	ENSP00000376684:D400N	D	+	1	0	EPHB6	142273932	1.000000	0.71417	0.967000	0.41034	0.921000	0.55340	9.808000	0.99193	2.289000	0.77006	0.462000	0.41574	GAC	EPHB6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G			142563810	1	no_errors	ENST00000392957	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142563810	G	A	142563810	3	1	58	1	0	0	0	0	1	0	0	0	5190	1174	41	1	1216	1	EPHB6	7	142563810	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3617349	142563810	16574853	575	8325										
CNTNAP2	26047	genome.wustl.edu	37	chr7	147869395	147869395	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccttgaggatgaatggggtGacacttgacctggaggaaag	15	6	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:147869395G>C	ENST00000361727.3	+	18	3351	c.2835G>C	c.(2833-2835)gtG>gtC	p.V945V	CNTNAP2_ENST00000538075.1_Silent_p.V4V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	945	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V945V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAATGGGGTGACACTTGACC	0.547										HNSCC(39;0.1)																																							1	Substitution - coding silent(1)	cervix(1)											87	83	84					7																	147869395		2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2835G>C	7.37:g.147869395G>C			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V945	ENST00000361727.3	37	c.2835	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.547	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			147869395	1	no_errors	ENST00000361727	ensembl	human	known	70_37	silent	SNP	1.000	C	C	147869395	G	C	147869395	2	2	58	1	0	0	0	0	0	0	0	1	3652	1277	45	1		1	CNTNAP2	7	147869395	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5305585	147869395	11269268	576	8326										
TMEM176B	28959	genome.wustl.edu	37	chr7	150493471	150493471	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacccctagagccagctgctCataaccaatcctggctgtgg	9	14	1	1	rs141592438		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:150493471C>G	ENST00000447204.2	-	2	559	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63Q|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63Q|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63Q|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63Q|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63Q	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	63					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E63Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGCTGCTCATAACCAATC	0.498																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	8,4398	14.3+/-33.2	0,8,2195	57	57	57		187,187,187,187	1	0	7	dbSNP_134	57	0,8600		0,0,4300	yes	missense,missense,missense,missense	TMEM176B	NM_001101311.1,NM_001101312.1,NM_001101314.1,NM_014020.3	29,29,29,29	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	benign,benign,benign,benign	63/271,63/271,63/234,63/271	150493471	8,12998	2203	4300	6503	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.187G>C	7.37:g.150493471C>G	ENSP00000410269:p.Glu63Gln		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.E63Q	ENST00000447204.2	37	c.187	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	C	4.671	0.124835	0.08931	0.001816	0.0	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.08193	3.25;3.25;3.25;3.25;3.25;3.12	4.92	1.04	0.20106	.	1.227770	0.06259	N	0.693596	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	P;P	0.38677	0.642;0.454	B;B	0.40636	0.335;0.057	T	0.43196	-0.9406	10	0.15952	T	0.53	-1.6786	7.4458	0.27211	0.0:0.6258:0.0:0.3742	.	63;63	E9PAV4;Q3YBM2	.;T176B_HUMAN	Q	63	ENSP00000419258:E63Q;ENSP00000318409:E63Q;ENSP00000410269:E63Q;ENSP00000413531:E63Q;ENSP00000397810:E63Q;ENSP00000404831:E63Q	ENSP00000318409:E63Q	E	-	1	0	TMEM176B	150124404	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.021000	0.13489	0.142000	0.18901	-0.444000	0.05651	GAG	TMEM176B	-	superfamily_MFS_dom_general_subst_transpt		0.498	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	C	NM_014020		150493471	-1	no_errors	ENST00000326442	ensembl	human	known	70_37	missense	SNP	0.000	G	G	150493471	C	G	150493471	3	3	58	1	0	0	0	0	1	0	0	0	16123	835	29	1	649	1	TMEM176B	7	150493471	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2624076	150493471	8645192	577	8327										
GALNTL5	168391	genome.wustl.edu	37	chr7	151711802	151711802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatcagtaagaaacaaactgGaaaaccttctacaatcatca	4	9	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151711802G>A	ENST00000392800.2	+	8	1354	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G367E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	367					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.G367E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAACAAACTGGAAAACCTTCT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											169	145	153					7																	151711802		2203	4300	6503	SO:0001583	missense	168391			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1100G>A	7.37:g.151711802G>A	ENSP00000376548:p.Gly367Glu		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.G367E	ENST00000392800.2	37	c.1100	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784059	0.16189	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59502	0.26;0.26	3.64	-7.27	0.01461	.	11.853400	0.00166	N	0.000001	T	0.39009	0.1062	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.56958	D	0.05	.	6.9881	0.24739	0.2674:0.5471:0.1855:0.0	.	118;367	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	E	367	ENSP00000392582:G367E;ENSP00000376548:G367E	ENSP00000376548:G367E	G	+	2	0	GALNTL5	151342735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.813000	0.04491	-1.876000	0.01131	-0.339000	0.08088	GGA	GALNTL5	-	NULL		0.418	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	G	NM_145292		151711802	1	no_errors	ENST00000392800	ensembl	human	known	70_37	missense	SNP	0.000	A	A	151711802	G	A	151711802	3	1	58	1	0	0	0	0	1	0	0	0	6243	1174	41	1	1126	1	GALNTL5	7	151711802	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1218331	151711802	7426861	578	8328										
MLL3	58508	genome.wustl.edu	37	chr7	151859593	151859593	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttgatttggagttgcttgtGagaaatcactattgggcagt	13	4	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151859593G>C	ENST00000262189.6	-	43	11287	c.11069C>G	c.(11068-11070)tCa>tGa	p.S3690*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S3690*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3690					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S3690*(2)									AGTTGCTTGTGAGAAATCACT	0.463																																																	2	Substitution - Nonsense(2)	cervix(2)											221	222	222					7																	151859593		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11069C>G	7.37:g.151859593G>C	ENSP00000262189:p.Ser3690*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S3690*	ENST00000262189.6	37	c.11069	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	52	19.814963	0.99924	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	.	.	.	5.51	3.69	0.42338	.	0.805758	0.10081	U	0.718462	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.4648	0.21975	0.1514:0.0:0.7029:0.1457	.	.	.	.	X	3690;3690;276	.	ENSP00000262189:S3690X	S	-	2	0	MLL3	151490526	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	1.539000	0.36104	0.679000	0.31345	0.650000	0.86243	TCA	MLL3	-	NULL		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151859593	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.002	C	C	151859593	G	C	151859593	4	2	58	1	0	0	0	0	0	1	0	0	9645	1294	45	1	3734	1	MLL3	7	151859593	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	147791	151859593	7279070	579	8329										
MLL3	58508	genome.wustl.edu	37	chr7	151860641	151860641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attgaggggcaggtgggcagGagcactgttgggttgccatc	18	7	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151860641G>T	ENST00000262189.6	-	43	10239	c.10021C>A	c.(10021-10023)Cct>Act	p.P3341T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3341T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3341	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P3341T(2)									AGGTGGGCAGGAGCACTGTTG	0.517																																																	2	Substitution - Missense(2)	cervix(2)											104	99	101					7																	151860641		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10021C>A	7.37:g.151860641G>T	ENSP00000262189:p.Pro3341Thr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3341T	ENST00000262189.6	37	c.10021	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.253|0.253	-1.004954|-1.004954	0.02112|0.02112	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.86432|.	-2.12;-2.08|.	5.09|5.09	1.2|1.2	0.21068|0.21068	.|.	0.485497|.	0.17138|.	N|.	0.185552|.	T|T	0.51822|0.51822	0.1697|0.1697	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;B;B|.	0.19200|.	0.012;0.034;0.031|.	B;B;B|.	0.21708|.	0.003;0.036;0.028|.	T|T	0.33675|0.33675	-0.9859|-0.9859	10|5	0.29301|.	T|.	0.29|.	.|.	7.6758|7.6758	0.28484|0.28484	0.2588:0.1361:0.6051:0.0|0.2588:0.1361:0.6051:0.0	.|.	3341;2402;3341|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	T|Y	3341|846	ENSP00000262189:P3341T;ENSP00000347325:P3341T|.	ENSP00000262189:P3341T|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151491574|151491574	0.781000|0.781000	0.28676|0.28676	0.669000|0.669000	0.29828|0.29828	0.028000|0.028000	0.11728|0.11728	0.056000|0.056000	0.14256|0.14256	-0.063000|-0.063000	0.13065|0.13065	-0.782000|-0.782000	0.03352|0.03352	CCT|TCC	MLL3	-	NULL		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151860641	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.993	T	T	151860641	G	T	151860641	3	4	58	1	0	0	0	0	1	0	0	0	9645	1174	41	3	4782	3	MLL3	7	151860641	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1048	151860641	7278022	580	8330										
MLL3	58508	genome.wustl.edu	37	chr7	151919142	151919142	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgaagattcacagcagtctGaggaaggcactgaaacgaaa	12	7	2	4	rs201254064		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151919142G>C	ENST00000262189.6	-	22	3661	c.3443C>G	c.(3442-3444)tCa>tGa	p.S1148*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1148*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1148					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1148*(2)									ACAGCAGTCTGAGGAAGGCAC	0.279																																																	2	Substitution - Nonsense(2)	cervix(2)											54	60	58					7																	151919142		2198	4294	6492	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3443C>G	7.37:g.151919142G>C	ENSP00000262189:p.Ser1148*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S1148*	ENST00000262189.6	37	c.3443	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.570198	0.99577	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.58	5.58	0.84498	.	0.202603	0.24542	N	0.037639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	9.7952	0.40731	0.1578:0.0:0.8422:0.0	.	.	.	.	X	1148	.	ENSP00000262189:S1148X	S	-	2	0	MLL3	151550075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.146000	0.50631	2.622000	0.88805	0.650000	0.86243	TCA	MLL3	-	NULL		0.279	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151919142	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	151919142	G	C	151919142	4	2	58	1	0	0	0	0	0	1	0	0	9645	1294	45	1	11444	1	MLL3	7	151919142	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	58501	151919142	7219521	581	8331										
RBM33	155435	genome.wustl.edu	37	chr7	155473423	155473423	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagaggatgaactggtttatCacaaatctgatggatcagaa	11	5	3	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:155473423C>T	ENST00000401878.3	+	5	586	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	RBM33_ENST00000392759.3_Missense_Mutation_p.H130Y|RBM33_ENST00000287912.3_Missense_Mutation_p.H130Y	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	130	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H130Y(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACTGGTTTATCACAAATCTGA	0.403																																																	3	Substitution - Missense(3)	cervix(3)											107	102	104					7																	155473423		1967	4147	6114	SO:0001583	missense	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.388C>T	7.37:g.155473423C>T	ENSP00000384160:p.His130Tyr		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.H130Y	ENST00000401878.3	37	c.388	CCDS5941.2	7	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231815	0.39399	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759;ENST00000440108	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.08	5.08	0.68730	.	.	.	.	.	T	0.26195	0.0639	N	0.22421	0.69	0.80722	D	1	B;D	0.53745	0.023;0.962	B;P	0.48840	0.009;0.592	T	0.01715	-1.1289	9	0.19590	T	0.45	.	12.5585	0.56267	0.0:0.7786:0.2214:0.0	.	130;130	Q96EV2;Q96EV2-2	RBM33_HUMAN;.	Y	130;130;130;21	ENSP00000287912:H130Y;ENSP00000384160:H130Y;ENSP00000376513:H130Y;ENSP00000394987:H21Y	ENSP00000287912:H130Y	H	+	1	0	RBM33	155166184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.954000	0.70298	2.365000	0.80145	0.563000	0.77884	CAC	RBM33	-	NULL		0.403	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	C	NM_001008408		155473423	1	no_errors	ENST00000401878	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155473423	C	T	155473423	3	4	58	1	0	0	0	0	1	0	0	0	13160	826	29	1	406	1	RBM33	7	155473423	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3554281	155473423	3665240	582	8332										
RNF32	140545	genome.wustl.edu	37	chr7	156468504	156468504	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgttcttcagcagttggaaGaaaaatgtggccatgagatc	12	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:156468504G>C	ENST00000405335.1	+	9	1208	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	RNF32_ENST00000317955.5_Missense_Mutation_p.E267Q|RNF32_ENST00000343665.4_Missense_Mutation_p.E243Q|RNF32_ENST00000311822.8_Missense_Mutation_p.E267Q|RNF32_ENST00000392743.2_Missense_Mutation_p.E267Q|RNF32_ENST00000432459.2_Missense_Mutation_p.E267Q|LMBR1_ENST00000430825.2_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	267						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.E267Q(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCAGTTGGAAGAAAAATGTGG	0.493																																																	2	Substitution - Missense(2)	cervix(2)											148	140	143					7																	156468504		2203	4300	6503	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.799G>C	7.37:g.156468504G>C	ENSP00000385285:p.Glu267Gln		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.E267Q	ENST00000405335.1	37	c.799	CCDS5944.1	7	.	.	.	.	.	.	.	.	.	.	G	3.883	-0.025620	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.23950	2.2;2.2;2.2;1.91;2.2;1.88	5.22	3.38	0.38709	.	0.375414	0.33572	N	0.004763	T	0.20618	0.0496	L	0.60455	1.87	0.09310	N	0.999995	P;B	0.38767	0.646;0.309	B;B	0.33690	0.168;0.109	T	0.14200	-1.0481	10	0.40728	T	0.16	-3.5354	6.8761	0.24147	0.1589:0.0:0.6944:0.1467	.	267;267	G5E940;Q9H0A6	.;RNF32_HUMAN	Q	267;267;267;267;267;243	ENSP00000405588:E267Q;ENSP00000315950:E267Q;ENSP00000385285:E267Q;ENSP00000308894:E267Q;ENSP00000376499:E267Q;ENSP00000341185:E243Q	ENSP00000308894:E267Q	E	+	1	0	RNF32	156161265	0.081000	0.21417	0.165000	0.22776	0.016000	0.09150	1.723000	0.38053	1.189000	0.43028	0.650000	0.86243	GAA	RNF32	-	NULL		0.493	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	G	NM_030936		156468504	1	no_errors	ENST00000317955	ensembl	human	known	70_37	missense	SNP	0.047	C	C	156468504	G	C	156468504	3	2	58	1	0	0	0	0	1	0	0	0	13518	943	33	1	825	1	RNF32	7	156468504	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	995081	156468504	2670159	583	8333										
RNF32	140545	genome.wustl.edu	37	chr7	156468519	156468519	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggaagaaaaatgtggccatGagatcacagaagaggaatgg	14	4	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:156468519G>A	ENST00000405335.1	+	9	1223	c.814G>A	c.(814-816)Gag>Aag	p.E272K	RNF32_ENST00000317955.5_Missense_Mutation_p.E272K|RNF32_ENST00000343665.4_Missense_Mutation_p.E248K|RNF32_ENST00000311822.8_Missense_Mutation_p.E272K|RNF32_ENST00000392743.2_Missense_Mutation_p.E272K|RNF32_ENST00000432459.2_Missense_Mutation_p.E272K|LMBR1_ENST00000430825.2_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	272						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.E272K(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATGTGGCCATGAGATCACAGA	0.493																																																	2	Substitution - Missense(2)	cervix(2)											137	129	131					7																	156468519		2203	4300	6503	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.814G>A	7.37:g.156468519G>A	ENSP00000385285:p.Glu272Lys		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.E272K	ENST00000405335.1	37	c.814	CCDS5944.1	7	.	.	.	.	.	.	.	.	.	.	G	6.315	0.426311	0.11987	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22945	2.28;2.28;2.28;1.93;2.28;1.95	5.22	2.15	0.27550	.	0.917396	0.09543	N	0.787984	T	0.18964	0.0455	L	0.43701	1.375	0.09310	N	1	B;B	0.17852	0.024;0.011	B;B	0.17433	0.018;0.003	T	0.37865	-0.9687	10	0.12766	T	0.61	-6.1983	6.0491	0.19775	0.2705:0.2253:0.5042:0.0	.	272;272	G5E940;Q9H0A6	.;RNF32_HUMAN	K	272;272;272;272;272;248	ENSP00000405588:E272K;ENSP00000315950:E272K;ENSP00000385285:E272K;ENSP00000308894:E272K;ENSP00000376499:E272K;ENSP00000341185:E248K	ENSP00000308894:E272K	E	+	1	0	RNF32	156161280	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.064000	0.14437	0.470000	0.27294	0.650000	0.86243	GAG	RNF32	-	NULL		0.493	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	G	NM_030936		156468519	1	no_errors	ENST00000317955	ensembl	human	known	70_37	missense	SNP	0.000	A	A	156468519	G	A	156468519	3	1	58	1	0	0	0	0	1	0	0	0	13518	1291	45	1	840	1	RNF32	7	156468519	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	15	156468519	2670144	584	8334										
PTPRN2	5799	genome.wustl.edu	37	chr7	157926700	157926700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagggctccaggtaagagtcGagacccgtggtcctgcagga	16	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:157926700G>C	ENST00000389418.4	-	9	1234	c.1225C>G	c.(1225-1227)Cga>Gga	p.R409G	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R371G|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R392G|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R409G|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R432G	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	409					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R409G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGTAAGAGTCGAGACCCGTGG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											44	48	47					7																	157926700		2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1225C>G	7.37:g.157926700G>C	ENSP00000374069:p.Arg409Gly		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R432G	ENST00000389418.4	37	c.1294	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	5.574	0.290688	0.10567	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02837	4.15;4.14;4.15;4.15;4.14	3.74	3.74	0.42951	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.45338	-0.9268	9	0.23891	T	0.37	.	9.6806	0.40067	0.0:0.2133:0.7867:0.0	.	432;371;409;392;409	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	G	371;409;392;409;432	ENSP00000387114:R371G;ENSP00000374064:R409G;ENSP00000374067:R392G;ENSP00000374069:R409G;ENSP00000385464:R432G	ENSP00000374064:R409G	R	-	1	2	PTPRN2	157619461	0.915000	0.31059	0.004000	0.12327	0.013000	0.08279	2.819000	0.48049	1.783000	0.52377	0.471000	0.43371	CGA	PTPRN2	-	NULL		0.592	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			157926700	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.005	C	C	157926700	G	C	157926700	3	2	58	1	0	0	0	0	1	0	0	0	12838	1066	37	1	1882	1	PTPRN2	7	157926700	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1458181	157926700	1211963	585	8335										
ESYT2	57488	genome.wustl.edu	37	chr7	158534343	158534343	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaggaggctggaggagcttCtgcccaggtcgtgcagcccc	15	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:158534343C>T	ENST00000251527.5	-	17	2185	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K	ESYT2_ENST00000435514.2_Missense_Mutation_p.R142K	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	735					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.R707K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGAGGAGCTTCTGCCCAGGTC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											35	36	36					7																	158534343		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2120G>A	7.37:g.158534343C>T	ENSP00000251527:p.Arg707Lys		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R707K	ENST00000251527.5	37	c.2120	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013897	0.19277	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650	T;T;T	0.19938	2.11;2.12;2.56	5.4	4.32	0.51571	.	0.224760	0.41396	D	0.000898	T	0.12603	0.0306	L	0.28740	0.885	0.38803	D	0.955238	B;B	0.10296	0.003;0.002	B;B	0.17098	0.017;0.002	T	0.06320	-1.0833	10	0.02654	T	1	-19.1728	10.5977	0.45347	0.0:0.8353:0.0:0.1647	.	707;735	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	K	707;756;698;142;142	ENSP00000251527:R707K;ENSP00000275418:R698K;ENSP00000411488:R142K	ENSP00000251527:R707K	R	-	2	0	ESYT2	158227104	0.964000	0.33143	0.998000	0.56505	0.062000	0.15995	2.243000	0.43115	2.536000	0.85505	0.650000	0.86243	AGA	ESYT2	-	NULL		0.657	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	C	NM_020728		158534343	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	0.995	T	T	158534343	C	T	158534343	3	4	58	1	0	0	0	0	1	0	0	0	5277	913	32	1	585	1	ESYT2	7	158534343	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	607643	158534343	604320	586	8336										
WDR60	55112	genome.wustl.edu	37	chr7	158723168	158723168	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgatgcctggagggagggtCaagctggtacatagtgctct	15	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:158723168C>G	ENST00000407559.3	+	21	2666	c.2508C>G	c.(2506-2508)gtC>gtG	p.V836V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	836					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V836V(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGGGAGGGTCAAGCTGGTAC	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											174	164	167					7																	158723168		1964	4155	6119	SO:0001819	synonymous_variant	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2508C>G	7.37:g.158723168C>G			Q9NW58	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V836	ENST00000407559.3	37	c.2508	CCDS47757.1	7																																																																																			WDR60	-	superfamily_WD40_repeat_dom		0.413	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	C	NM_018051		158723168	1	no_errors	ENST00000407559	ensembl	human	known	70_37	silent	SNP	0.991	G	G	158723168	C	G	158723168	2	3	58	1	0	0	0	0	0	0	0	1	17342	813	29	1		1	WDR60	7	158723168	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	188825	158723168	415495	587	8337										
SGK223	157285	genome.wustl.edu	37	chr8	8176255	8176255	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggccttcaaaaagttgctGatgatgagccggggcagctg	14	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:8176255G>A	ENST00000520004.1	-	6	3894	c.3630C>T	c.(3628-3630)atC>atT	p.I1210I	SGK223_ENST00000330777.4_Silent_p.I1210I			Q86YV5	SG223_HUMAN		1214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I1212I(1)|p.I1210I(1)									AAAAGTTGCTGATGATGAGCC	0.697																																					GBM(34;731 755 10259 33573 33867)												2	Substitution - coding silent(2)	cervix(2)											19	21	20					8																	8176255		1845	4079	5924	SO:0001819	synonymous_variant	157285																														ENST00000520004.1:c.3630C>T	8.37:g.8176255G>A			Q8N3N5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.I1210	ENST00000520004.1	37	c.3630	CCDS43706.1	8																																																																																			SGK223	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.697	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	G			8176255	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8176255	G	A	8176255	2	1	58	1	0	0	0	0	0	0	0	1	14240	1280	45	1		1	SGK223	8	8176255	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		8176255	138187767	588	8338										
DLC1	10395	genome.wustl.edu	37	chr8	12957629	12957629	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggctgctgctgctgctggtCtgcgtggagttggaaacgct	16	9	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:12957629C>T	ENST00000276297.4	-	9	2626	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q	DLC1_ENST00000520226.1_Silent_p.Q228Q|DLC1_ENST00000358919.2_Silent_p.Q302Q|DLC1_ENST00000512044.2_Silent_p.Q336Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	739	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Q739Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGCTGCTGGTCTGCGTGGAGT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											60	50	54					8																	12957629		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2217G>A	8.37:g.12957629C>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q739	ENST00000276297.4	37	c.2217	CCDS5989.1	8																																																																																			DLC1	-	NULL		0.622	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		12957629	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12957629	C	T	12957629	2	4	58	1	0	0	0	0	0	0	0	1	4560	912	32	1		1	DLC1	8	12957629	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4781374	12957629	133406393	589	8339										
FGF17	8822	genome.wustl.edu	37	chr8	21904123	21904123	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagtacatctgtatgaacaaGaggggcaagctcatcgggaa	12	7	2	2	rs200608386		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:21904123G>C	ENST00000359441.3	+	4	839	c.336G>C	c.(334-336)aaG>aaC	p.K112N	FGF17_ENST00000518533.1_Missense_Mutation_p.K101N|FGF17_ENST00000521709.1_Intron	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	112					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.K112N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GTATGAACAAGAGGGGCAAGC	0.567																																																	1	Substitution - Missense(1)	cervix(1)											91	78	83					8																	21904123		2203	4300	6503	SO:0001583	missense	8822			AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.336G>C	8.37:g.21904123G>C	ENSP00000352414:p.Lys112Asn		B7ZLG4|Q2M2W1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.K112N	ENST00000359441.3	37	c.336	CCDS6019.1	8	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614293	0.46631	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	D;D	0.89939	-2.59;-2.59	4.84	3.96	0.45880	.	0.070767	0.56097	D	0.000031	D	0.83741	0.5320	M	0.64170	1.965	0.36258	D	0.854379	B;P	0.37466	0.361;0.596	B;B	0.31016	0.073;0.123	D	0.84641	0.0695	10	0.56958	D	0.05	-32.3971	7.4291	0.27118	0.1963:0.0:0.8037:0.0	.	101;112	O60258-2;O60258	.;FGF17_HUMAN	N	101;112	ENSP00000431041:K101N;ENSP00000352414:K112N	ENSP00000352414:K112N	K	+	3	2	FGF17	21960069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.408000	0.44574	1.034000	0.39945	0.561000	0.74099	AAG	FGF17	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF		0.567	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF17	HGNC	protein_coding	OTTHUMT00000214154.2	G	NM_003867		21904123	1	no_errors	ENST00000359441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21904123	G	C	21904123	3	2	58	1	0	0	0	0	1	0	0	0	5863	933	33	1	350	1	FGF17	8	21904123	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8946494	21904123	124459899	590	8340										
HMBOX1	79618	genome.wustl.edu	37	chr8	28876293	28876293	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaggcgctacactaagtatGagaccagcccccattccaat	7	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:28876293G>A	ENST00000397358.3	+	7	1418	c.714G>A	c.(712-714)atG>atA	p.M238I	HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I|HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I|HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	238					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M238I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CACTAAGTATGAGACCAGCCC	0.453																																																	1	Substitution - Missense(1)	cervix(1)											110	108	109					8																	28876293		2203	4300	6503	SO:0001583	missense	79618			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.714G>A	8.37:g.28876293G>A	ENSP00000380516:p.Met238Ile		A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.M238I	ENST00000397358.3	37	c.714	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094828	0.76870	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99867	-7.31;-7.31;-6.3;-7.29;-7.31;-7.31	5.9	5.9	0.94986	Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	N	0.19112	0.55	0.53688	D	0.999979	P;P;P;P;P;P	0.51933	0.949;0.915;0.949;0.885;0.525;0.915	P;B;B;P;B;B	0.48189	0.57;0.217;0.389;0.57;0.38;0.217	D	0.99470	1.0945	10	0.32370	T	0.25	-9.3242	20.3268	0.98702	0.0:0.0:1.0:0.0	.	238;238;238;238;238;238	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	I	238	ENSP00000287701:M238I;ENSP00000401769:M238I;ENSP00000384261:M238I;ENSP00000430059:M238I;ENSP00000380516:M238I;ENSP00000430110:M238I	ENSP00000287701:M238I	M	+	3	0	HMBOX1	28932212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.385000	0.97223	2.794000	0.96219	0.650000	0.86243	ATG	HMBOX1	-	superfamily_Lambda_DNA-bd_dom		0.453	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4	G	NM_024567		28876293	1	no_errors	ENST00000444075	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28876293	G	A	28876293	3	1	58	1	0	0	0	0	1	0	0	0	7238	1290	45	1	732	1	HMBOX1	8	28876293	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6972170	28876293	117487729	591	8341										
TEX15	56154	genome.wustl.edu	37	chr8	30700686	30700686	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaattatagtatcctcctCaagcccaataggggaaattg	8	9	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30700686C>G	ENST00000256246.2	-	1	5922	c.5848G>C	c.(5848-5850)Gag>Cag	p.E1950Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1950					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1950Q(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTATCCTCCTCAAGCCCAATA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											63	64	64					8																	30700686		2201	4299	6500	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5848G>C	8.37:g.30700686C>G	ENSP00000256246:p.Glu1950Gln			Missense_Mutation	SNP	NULL	p.E1950Q	ENST00000256246.2	37	c.5848	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.276816	0.01410	.	.	ENSG00000133863	ENST00000256246	T	0.11495	2.77	5.73	-1.04	0.10068	.	0.742165	0.11891	N	0.519642	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B	0.27882	0.192	B	0.30105	0.111	T	0.30357	-0.9981	10	0.87932	D	0	.	5.707	0.17913	0.0:0.3375:0.3938:0.2687	.	1950	Q9BXT5	TEX15_HUMAN	Q	1950	ENSP00000256246:E1950Q	ENSP00000256246:E1950Q	E	-	1	0	TEX15	30820228	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	-0.738000	0.04871	-0.549000	0.06191	-0.225000	0.12378	GAG	TEX15	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700686	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.008	G	G	30700686	C	G	30700686	3	3	58	1	0	0	0	0	1	0	0	0	15809	835	29	1	2537	1	TEX15	8	30700686	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1824393	30700686	115663336	592	8342										
TEX15	56154	genome.wustl.edu	37	chr8	30701580	30701580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaacattcttgctttctttCaaaagcttccacaaataaag	4	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30701580C>G	ENST00000256246.2	-	1	5028	c.4954G>C	c.(4954-4956)Gaa>Caa	p.E1652Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1652					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1652Q(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCTTTCTTTCAAAAGCTTCC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											57	58	58					8																	30701580		2202	4299	6501	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4954G>C	8.37:g.30701580C>G	ENSP00000256246:p.Glu1652Gln			Missense_Mutation	SNP	NULL	p.E1652Q	ENST00000256246.2	37	c.4954	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135465	0.56828	.	.	ENSG00000133863	ENST00000256246	T	0.27104	1.69	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000009	T	0.42539	0.1207	M	0.63843	1.955	0.40991	D	0.98485	D	0.71674	0.998	D	0.62955	0.909	T	0.39583	-0.9607	10	0.87932	D	0	.	8.681	0.34209	0.0:0.7677:0.1534:0.0789	.	1652	Q9BXT5	TEX15_HUMAN	Q	1652	ENSP00000256246:E1652Q	ENSP00000256246:E1652Q	E	-	1	0	TEX15	30821122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.529000	0.45632	2.795000	0.96236	0.655000	0.94253	GAA	TEX15	-	NULL		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30701580	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30701580	C	G	30701580	3	3	58	1	0	0	0	0	1	0	0	0	15809	835	29	1	3431	1	TEX15	8	30701580	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	894	30701580	115662442	593	8343										
TEX15	56154	genome.wustl.edu	37	chr8	30704421	30704421	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttatatgaggtcacaaattCttcacaaagcatgttttcat	5	8	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30704421C>T	ENST00000256246.2	-	1	2187	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	705					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E705K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCACAAATTCTTCACAAAGC	0.373																																																	1	Substitution - Missense(1)	cervix(1)											93	84	87					8																	30704421		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2113G>A	8.37:g.30704421C>T	ENSP00000256246:p.Glu705Lys			Missense_Mutation	SNP	NULL	p.E705K	ENST00000256246.2	37	c.2113	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458393	0.84317	.	.	ENSG00000133863	ENST00000256246	T	0.23552	1.9	5.78	5.78	0.91487	.	0.303416	0.28176	N	0.016315	T	0.40297	0.1111	L	0.36672	1.1	0.29900	N	0.824446	D	0.71674	0.998	D	0.65233	0.933	T	0.29088	-1.0023	10	0.87932	D	0	.	15.5121	0.75793	0.0:1.0:0.0:0.0	.	705	Q9BXT5	TEX15_HUMAN	K	705	ENSP00000256246:E705K	ENSP00000256246:E705K	E	-	1	0	TEX15	30823963	0.926000	0.31397	0.329000	0.25429	0.002000	0.02628	2.902000	0.48703	2.731000	0.93534	0.655000	0.94253	GAA	TEX15	-	NULL		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30704421	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.557	T	T	30704421	C	T	30704421	3	4	58	1	0	0	0	0	1	0	0	0	15809	922	32	1	6272	1	TEX15	8	30704421	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2841	30704421	115659601	594	8344										
TEX15	56154	genome.wustl.edu	37	chr8	30704944	30704944	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtagaaaattcttcagaactCaaaatttctatattgtggta	6	5	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30704944C>G	ENST00000256246.2	-	1	1664	c.1590G>C	c.(1588-1590)ttG>ttC	p.L530F	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	530					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.L530F(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCAGAACTCAAAATTTCTA	0.313																																																	1	Substitution - Missense(1)	cervix(1)											59	60	59					8																	30704944		2200	4291	6491	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1590G>C	8.37:g.30704944C>G	ENSP00000256246:p.Leu530Phe			Missense_Mutation	SNP	NULL	p.L530F	ENST00000256246.2	37	c.1590	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673520	0.47781	.	.	ENSG00000133863	ENST00000256246	T	0.13901	2.55	5.49	-1.99	0.07457	.	0.637105	0.13052	N	0.417613	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	1	P	0.52061	0.95	P	0.51355	0.667	T	0.15407	-1.0438	10	0.87932	D	0	.	1.5853	0.02643	0.3852:0.3184:0.1149:0.1816	.	530	Q9BXT5	TEX15_HUMAN	F	530	ENSP00000256246:L530F	ENSP00000256246:L530F	L	-	3	2	TEX15	30824486	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	-0.095000	0.11077	-0.181000	0.10619	0.650000	0.86243	TTG	TEX15	-	NULL		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30704944	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30704944	C	G	30704944	3	3	58	1	0	0	0	0	1	0	0	0	15809	825	29	1	6795	1	TEX15	8	30704944	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	523	30704944	115659078	595	8345										
KCNU1	157855	genome.wustl.edu	37	chr8	36766906	36766906	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggagatgcccactcagccccGatggggcttcggaactttgt	13	12	1	1	rs368283762	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:36766906G>C	ENST00000399881.3	+	21	2221	c.2184G>C	c.(2182-2184)ccG>ccC	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468																																																	5	Substitution - coding silent(5)	cervix(2)|lung(2)|prostate(1)											228	221	223					8																	36766906		1863	4108	5971	SO:0001819	synonymous_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2184G>C	8.37:g.36766906G>C				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.P728	ENST00000399881.3	37	c.2184	CCDS55220.1	8																																																																																			KCNU1	-	NULL		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36766906	1	no_errors	ENST00000399881	ensembl	human	known	70_37	silent	SNP	0.987	C	C	36766906	G	C	36766906	2	2	58	1	0	0	0	0	0	0	0	1	8113	1045	37	1		1	KCNU1	8	36766906	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6061962	36766906	109597116	596	8346										
ZNF703	80139	genome.wustl.edu	37	chr8	37556024	37556024	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccgggtcgctgtccttgcgGaatccacacactttgggcct	11	15	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:37556024G>T	ENST00000331569.4	+	2	1834	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	535					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R535R(1)	FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			TGTCCTTGCGGAATCCACACA	0.751																																																	1	Substitution - coding silent(1)	cervix(1)											12	12	12					8																	37556024		2197	4275	6472	SO:0001819	synonymous_variant	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1605G>T	8.37:g.37556024G>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.R535	ENST00000331569.4	37	c.1605	CCDS6094.1	8																																																																																			ZNF703	-	NULL		0.751	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	G	NM_025069		37556024	1	no_errors	ENST00000331569	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37556024	G	T	37556024	2	4	58	1	0	0	0	0	0	0	0	1	18136	1161	41	3		3	ZNF703	8	37556024	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	789118	37556024	108807998	597	8347										
FNTA	2339	genome.wustl.edu	37	chr8	42927367	42927367	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatggctaagagatccatctCaggagcttgaatttattgct	9	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:42927367C>G	ENST00000302279.3	+	5	744	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	RNU1-124P_ENST00000363861.1_RNA|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.Q141E|FNTA_ENST00000529687.1_Missense_Mutation_p.Q33E|FNTA_ENST00000342116.4_Missense_Mutation_p.Q117E	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	184					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.Q184E(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATCCATCTCAGGAGCTTGA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											142	140	140					8																	42927367		2203	4300	6503	SO:0001583	missense	2339			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.550C>G	8.37:g.42927367C>G	ENSP00000303423:p.Gln184Glu		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.Q184E	ENST00000302279.3	37	c.550	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110229	0.20714	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000525699;ENST00000533336	T	0.35605	1.3	4.61	4.61	0.57282	Protein prenyltransferase (1);	0.227924	0.44483	D	0.000448	T	0.20536	0.0494	N	0.16307	0.4	0.40167	D	0.977131	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.08764	-1.0706	10	0.13470	T	0.59	-13.1616	10.9846	0.47514	0.0:0.8101:0.1899:0.0	.	117;93;184	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	E	141;184;117;166;33;122	ENSP00000436998:Q33E	ENSP00000303423:Q184E	Q	+	1	0	FNTA;RP11-598P20.5	43046524	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.363000	0.52321	2.122000	0.65172	0.306000	0.20318	CAG	FNTA	-	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a		0.378	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	C	NM_002027		42927367	1	no_errors	ENST00000302279	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42927367	C	G	42927367	3	3	58	1	0	0	0	0	1	0	0	0	5995	827	29	1	568	1	FNTA	8	42927367	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5371343	42927367	103436655	598	8348										
POTEA	340441	genome.wustl.edu	37	chr8	43152239	43152239	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggacagacaatgtcaacttCatgtctttgacagcaaaaag	8	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:43152239C>T	ENST00000522175.2	+	0	378							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.H126Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATGTCAACTTCATGTCTTTGA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											99	99	99					8																	43152239		2172	4288	6460			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152239C>T			A6ND17|A6ND71|Q6S8J6	RNA	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			POTEA	-	-		0.383	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	C	NM_001002920		43152239	1	no_errors	ENST00000522175	ensembl	human	known	70_37	rna	SNP	0.663	T	T	43152239	C	T	43152239	1	4	58	0	1	0	0	0	0	0	0	0	12285	826	29	1		1	POTEA	8	43152239	RNA	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	224872	43152239	103211783	599	8349										
KIAA0146	23514	genome.wustl.edu	37	chr8	48309015	48309015	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaatgtcctactcattgattCagaatcccctcacaaatacc	3	13	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:48309015C>G	ENST00000297423.4	+	6	989	c.605C>G	c.(604-606)tCa>tGa	p.S202*	SPIDR_ENST00000541342.1_Nonsense_Mutation_p.S132*|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.S142*	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	202	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.S202*(1)									CTCATTGATTCAGAATCCCCT	0.348																																																	1	Substitution - Nonsense(1)	cervix(1)											100	95	97					8																	48309015		1875	4101	5976	SO:0001587	stop_gained	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.605C>G	8.37:g.48309015C>G	ENSP00000297423:p.Ser202*		B4DFV2|B4E0Y6|Q96BI5	Nonsense_Mutation	SNP	NULL	p.S202*	ENST00000297423.4	37	c.605	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912297	0.92178	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342	.	.	.	5.69	4.63	0.57726	.	0.319165	0.23060	N	0.052383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	8.8955	0.35460	0.0:0.8473:0.0:0.1527	.	.	.	.	X	202;142;132	.	ENSP00000297423:S202X	S	+	2	0	KIAA0146	48471568	0.998000	0.40836	1.000000	0.80357	0.800000	0.45204	0.894000	0.28350	2.684000	0.91462	0.650000	0.86243	TCA	KIAA0146	-	NULL		0.348	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	C	NM_001080394		48309015	1	no_errors	ENST00000297423	ensembl	human	known	70_37	nonsense	SNP	0.974	G	G	48309015	C	G	48309015	4	3	58	1	0	0	0	0	0	1	0	0	8177	838	29	1	627	1	KIAA0146	8	48309015	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5156776	48309015	98055007	600	8350										
RB1CC1	9821	genome.wustl.edu	37	chr8	53569888	53569888	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtacattttaatgaatttGagaagtcacactgttctttt	6	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:53569888G>C	ENST00000025008.5	-	15	3024	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.S834*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.S834*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	834					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.S834*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATGAATTTGAGAAGTCACA	0.308																																					GBM(180;1701 2102 13475 42023 52570)												1	Substitution - Nonsense(1)	cervix(1)											87	86	87					8																	53569888		2203	4299	6502	SO:0001587	stop_gained	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2501C>G	8.37:g.53569888G>C	ENSP00000025008:p.Ser834*		Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	pfam_Autophagy-rel_p11	p.S834*	ENST00000025008.5	37	c.2501	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.627786	0.99223	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.28	5.28	0.74379	.	0.501136	0.20790	N	0.085629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.2437	19.2713	0.94011	0.0:0.0:1.0:0.0	.	.	.	.	X	834	.	ENSP00000025008:S834X	S	-	2	0	RB1CC1	53732441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.505000	0.60421	2.613000	0.88420	0.563000	0.77884	TCA	RB1CC1	-	NULL		0.308	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	G	NM_014781		53569888	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	nonsense	SNP	0.991	C	C	53569888	G	C	53569888	4	2	58	1	0	0	0	0	0	1	0	0	13129	1294	45	1	2323	1	RB1CC1	8	53569888	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5260873	53569888	92794134	601	8351										
RB1CC1	9821	genome.wustl.edu	37	chr8	53586728	53586728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcagctttttctgagtcttCatgttcaggtaaagaatcca	7	9	5	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:53586728C>G	ENST00000025008.5	-	7	1202	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E227Q|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E227Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	227					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.E227Q(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTGAGTCTTCATGTTCAGGT	0.413																																					GBM(180;1701 2102 13475 42023 52570)												1	Substitution - Missense(1)	cervix(1)											215	205	208					8																	53586728		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.679G>C	8.37:g.53586728C>G	ENSP00000025008:p.Glu227Gln		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.E227Q	ENST00000025008.5	37	c.679	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	10.20	1.286081	0.23478	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15017	2.46;2.46;2.46	5.36	5.36	0.76844	.	0.224065	0.41294	D	0.000901	T	0.11793	0.0287	N	0.13098	0.295	0.40624	D	0.98179	B;B	0.30361	0.277;0.181	B;B	0.34779	0.189;0.092	T	0.26503	-1.0101	10	0.16896	T	0.51	-13.7229	14.309	0.66403	0.1485:0.8515:0.0:0.0	.	227;227	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	Q	227	ENSP00000025008:E227Q;ENSP00000396067:E227Q;ENSP00000445960:E227Q	ENSP00000025008:E227Q	E	-	1	0	RB1CC1	53749281	1.000000	0.71417	0.928000	0.36995	0.471000	0.32888	4.430000	0.59907	2.663000	0.90544	0.467000	0.42956	GAA	RB1CC1	-	NULL		0.413	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53586728	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	missense	SNP	0.998	G	G	53586728	C	G	53586728	3	3	58	1	0	0	0	0	1	0	0	0	13129	835	29	1	4177	1	RB1CC1	8	53586728	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	16840	53586728	92777294	602	8352										
RP1	6101	genome.wustl.edu	37	chr8	55538983	55538983	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagtggcatctgggtatttGagaggaatggcaaagaagag	16	3	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:55538983G>C	ENST00000220676.1	+	4	2689	c.2541G>C	c.(2539-2541)ttG>ttC	p.L847F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	847					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L847F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGGTATTTGAGAGGAATGG	0.343																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	cervix(1)											43	46	45					8																	55538983		2203	4298	6501	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2541G>C	8.37:g.55538983G>C	ENSP00000220676:p.Leu847Phe			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L847F	ENST00000220676.1	37	c.2541	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643723	0.47258	.	.	ENSG00000104237	ENST00000220676	T	0.57107	0.42	5.63	4.74	0.60224	.	0.386417	0.19167	N	0.121046	T	0.49830	0.1580	L	0.60455	1.87	0.31176	N	0.702584	P	0.51933	0.949	P	0.44696	0.458	T	0.61681	-0.7013	10	0.87932	D	0	.	7.26	0.26197	0.1085:0.0:0.7256:0.1659	.	847	P56715	RP1_HUMAN	F	847	ENSP00000220676:L847F	ENSP00000220676:L847F	L	+	3	2	RP1	55701536	0.755000	0.28372	0.973000	0.42090	0.852000	0.48524	1.622000	0.36997	1.306000	0.44926	0.655000	0.94253	TTG	RP1	-	NULL		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55538983	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.895	C	C	55538983	G	C	55538983	3	2	58	1	0	0	0	0	1	0	0	0	13562	1281	45	1	2551	1	RP1	8	55538983	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1952255	55538983	90825039	603	8353										
PLAG1	5324	genome.wustl.edu	37	chr8	57079819	57079819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggtgctccagaagcactccCgtgctttcaaaagtttgcaa	9	11	1	1	rs370105954		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:57079819C>T	ENST00000316981.3	-	5	965	c.486G>A	c.(484-486)acG>acA	p.T162T	PLAG1_ENST00000423799.2_Silent_p.T80T|PLAG1_ENST00000429357.2_Silent_p.T162T	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	162	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T162T(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAGCACTCCCGTGCTTTCAA	0.468			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	2	Substitution - coding silent(2)	cervix(2)											75	67	70					8																	57079819		2203	4300	6503	SO:0001819	synonymous_variant	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.486G>A	8.37:g.57079819C>T			B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T162	ENST00000316981.3	37	c.486	CCDS6165.1	8																																																																																			PLAG1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	HGNC	protein_coding	OTTHUMT00000378212.1	C	NM_002655		57079819	-1	no_errors	ENST00000316981	ensembl	human	known	70_37	silent	SNP	0.936	T	T	57079819	C	T	57079819	2	4	58	1	0	0	0	0	0	0	0	1	12042	639	23	2		2	PLAG1	8	57079819	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1540836	57079819	89284203	604	8354										
SDCBP	6386	genome.wustl.edu	37	chr8	59490703	59490703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actgtgcaggatggagctctGataaagcgcacaaggtgctc	13	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:59490703G>C	ENST00000260130.4	+	6	664	c.514G>C	c.(514-516)Gat>Cat	p.D172H	SDCBP_ENST00000447267.2_Missense_Mutation_p.D118H|SDCBP_ENST00000523483.1_Missense_Mutation_p.D192H|SDCBP_ENST00000447182.2_Missense_Mutation_p.D171H|SDCBP_ENST00000520168.1_Missense_Mutation_p.D113H|SDCBP_ENST00000424270.2_Missense_Mutation_p.D166H|SDCBP_ENST00000413219.2_Missense_Mutation_p.D172H|SDCBP_ENST00000422546.2_Missense_Mutation_p.D171H	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	172	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.D172H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGGAGCTCTGATAAAGCGCA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											103	91	95					8																	59490703		2203	4300	6503	SO:0001583	missense	6386			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.514G>C	8.37:g.59490703G>C	ENSP00000260130:p.Asp172His		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D172H	ENST00000260130.4	37	c.514	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657037	0.88154	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.77	5.77	0.91146	PDZ/DHR/GLGF (4);	0.052828	0.64402	D	0.000001	T	0.62282	0.2415	M	0.81802	2.56	0.80722	D	1	B;D;D;P	0.64830	0.024;0.994;0.991;0.892	B;P;P;P	0.61275	0.074;0.876;0.886;0.83	T	0.61367	-0.7077	9	.	.	.	-14.3649	20.3626	0.98863	0.0:0.0:1.0:0.0	.	113;192;166;172	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	H	172;171;171;172;166;192;113;118	ENSP00000260130:D172H;ENSP00000391687:D171H;ENSP00000409288:D171H;ENSP00000411771:D172H;ENSP00000395351:D166H;ENSP00000428184:D192H;ENSP00000430730:D113H;ENSP00000397820:D118H	.	D	+	1	0	SDCBP	59653257	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	7.979000	0.88103	2.885000	0.99019	0.655000	0.94253	GAT	SDCBP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	G	NM_005625		59490703	1	no_errors	ENST00000260130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59490703	G	C	59490703	3	2	58	1	0	0	0	0	1	0	0	0	13985	1290	45	1	532	1	SDCBP	8	59490703	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2410884	59490703	86873319	605	8355										
CHD7	55636	genome.wustl.edu	37	chr8	61765259	61765259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcgaatgcccgtcaagccaGatgatggtaggtacatttag	12	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:61765259G>C	ENST00000423902.2	+	30	6576	c.6097G>C	c.(6097-6099)Gat>Cat	p.D2033H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2033					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D2033H(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTCAAGCCAGATGATGGTAG	0.398																																																	2	Substitution - Missense(2)	cervix(2)											57	56	56					8																	61765259		1886	4125	6011	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6097G>C	8.37:g.61765259G>C	ENSP00000392028:p.Asp2033His		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D2033H	ENST00000423902.2	37	c.6097	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586782	0.86851	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.87412	-2.25	5.48	5.48	0.80851	.	0.182873	0.47455	D	0.000224	D	0.91529	0.7325	L	0.55990	1.75	0.54753	D	0.999988	D	0.69078	0.997	D	0.65987	0.94	D	0.89999	0.4113	10	0.35671	T	0.21	-6.9096	19.3552	0.94410	0.0:0.0:1.0:0.0	.	2033	Q9P2D1	CHD7_HUMAN	H	2033	ENSP00000392028:D2033H	ENSP00000307304:D2033H	D	+	1	0	CHD7	61927813	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.821000	0.99360	2.583000	0.87209	0.655000	0.94253	GAT	CHD7	-	NULL		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61765259	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61765259	G	C	61765259	3	2	58	1	0	0	0	0	1	0	0	0	3335	942	33	1	6211	1	CHD7	8	61765259	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2274556	61765259	84598763	606	8356										
ASPH	444	genome.wustl.edu	37	chr8	62566204	62566204	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggactgctggctctgaagtaGatctctctttaagtcctgca	10	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:62566204G>C	ENST00000379454.4	-	4	525	c.338C>G	c.(337-339)tCt>tGt	p.S113C	ASPH_ENST00000445642.3_Missense_Mutation_p.S99C|ASPH_ENST00000517847.2_Missense_Mutation_p.S99C|ASPH_ENST00000522835.1_Missense_Mutation_p.S99C|ASPH_ENST00000518068.1_Missense_Mutation_p.S113C|ASPH_ENST00000517903.1_Missense_Mutation_p.S99C|ASPH_ENST00000541428.1_Missense_Mutation_p.S84C|ASPH_ENST00000356457.5_Missense_Mutation_p.S113C	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	113	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.S113C(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTGAAGTAGATCTCTCTTT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											83	72	76					8																	62566204		2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.338C>G	8.37:g.62566204G>C	ENSP00000368767:p.Ser113Cys		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S113C	ENST00000379454.4	37	c.338	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934657	0.73442	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.15	5.15	0.70609	Aspartyl beta-hydroxylase/Triadin domain (1);	2.576260	0.01103	N	0.005420	T	0.70937	0.3281	L	0.44542	1.39	0.37830	D	0.928681	D;D;D;D;P;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.948;0.995;0.999;0.995;0.999;0.971	D;D;D;D;P;P;D;P;D;P	0.81914	0.956;0.995;0.981;0.95;0.792;0.893;0.971;0.874;0.971;0.81	T	0.54255	-0.8321	10	0.66056	D	0.02	-2.929	14.0048	0.64456	0.0:0.0:1.0:0.0	.	113;99;99;99;84;113;113;113;99;113	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	C	113;84;113;113;128;113;99;99;99;99;84	ENSP00000437864:S84C;ENSP00000368767:S113C;ENSP00000348841:S113C;ENSP00000427823:S128C;ENSP00000429286:S113C;ENSP00000430245:S99C;ENSP00000394013:S99C;ENSP00000429954:S99C;ENSP00000429160:S99C;ENSP00000427877:S84C	ENSP00000348841:S113C	S	-	2	0	ASPH	62728758	0.999000	0.42202	0.852000	0.33557	0.901000	0.52897	4.315000	0.59172	2.694000	0.91930	0.557000	0.71058	TCT	ASPH	-	pfam_Asp-B-hydro/Triadin_dom		0.448	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	G	NM_004318		62566204	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	0.959	C	C	62566204	G	C	62566204	3	2	58	1	0	0	0	0	1	0	0	0	1054	942	33	1	2038	1	ASPH	8	62566204	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	800945	62566204	83797818	607	8357										
MTFR1	9650	genome.wustl.edu	37	chr8	66619257	66619257	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctgtaggtgacttagattCtaccacatttggtaccatac	7	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:66619257C>G	ENST00000262146.4	+	6	656	c.530C>G	c.(529-531)tCt>tGt	p.S177C	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.S144C	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	177					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.S177C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GACTTAGATTCTACCACATTT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											88	91	90					8																	66619257		2200	4300	6500	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.530C>G	8.37:g.66619257C>G	ENSP00000262146:p.Ser177Cys		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.S177C	ENST00000262146.4	37	c.530	CCDS6182.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.595361|3.595361	0.66219|0.66219	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.46819	.|0.86;0.86	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.726452	.|0.13931	.|N	.|0.352916	T|T	0.67961|0.67961	0.2949|0.2949	M|M	0.77103|0.77103	2.36|2.36	0.09310|0.09310	N|N	1|1	.|D;B;B;D	.|0.67145	.|0.996;0.188;0.204;0.996	.|P;B;B;D	.|0.65684	.|0.905;0.152;0.049;0.937	T|T	0.61461|0.61461	-0.7058|-0.7058	5|10	.|0.66056	.|D	.|0.02	-11.0961|-11.0961	13.0654|13.0654	0.59030|0.59030	0.1605:0.8395:0.0:0.0|0.1605:0.8395:0.0:0.0	.|.	.|177;161;144;177	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	V|C	135|161;177;144	.|ENSP00000262146:S177C;ENSP00000391502:S144C	.|ENSP00000262146:S177C	L|S	+|+	1|2	2|0	MTFR1|MTFR1	66781811|66781811	0.591000|0.591000	0.26824|0.26824	0.094000|0.094000	0.20943|0.20943	0.630000|0.630000	0.37929|0.37929	4.581000|4.581000	0.60949|0.60949	2.568000|2.568000	0.86640|0.86640	0.650000|0.650000	0.86243|0.86243	CTA|TCT	MTFR1	-	pfam_Mtfr1		0.443	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	C	NM_014637		66619257	1	no_errors	ENST00000262146	ensembl	human	known	70_37	missense	SNP	0.110	G	G	66619257	C	G	66619257	3	3	58	1	0	0	0	0	1	0	0	0	9948	913	32	1	548	1	MTFR1	8	66619257	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4053053	66619257	79744765	608	8358										
VCPIP1	80124	genome.wustl.edu	37	chr8	67577872	67577872	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcctatcactccagtccttCtgtagaaatactgatggaca	6	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:67577872C>T	ENST00000310421.4	-	1	1580	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	441					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R441K(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCCAGTCCTTCTGTAGAAATA	0.428																																					NSCLC(179;265 2915 6144 43644)												1	Substitution - Missense(1)	cervix(1)											126	125	125					8																	67577872		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1322G>A	8.37:g.67577872C>T	ENSP00000309031:p.Arg441Lys		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R441K	ENST00000310421.4	37	c.1322	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180878	0.38511	.	.	ENSG00000175073	ENST00000310421	T	0.36520	1.25	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	N	0.25380	0.74	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.26744	-1.0094	10	0.30854	T	0.27	-11.6484	19.6397	0.95753	0.0:1.0:0.0:0.0	.	441	Q96JH7	VCIP1_HUMAN	K	441	ENSP00000309031:R441K	ENSP00000309031:R441K	R	-	2	0	VCPIP1	67740426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	AGA	VCPIP1	-	NULL		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67577872	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67577872	C	T	67577872	3	4	58	1	0	0	0	0	1	0	0	0	17172	913	32	1	2358	1	VCPIP1	8	67577872	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	958615	67577872	78786150	609	8359										
VCPIP1	80124	genome.wustl.edu	37	chr8	67577894	67577894	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtagaaatactgatggacatCagcaaccaaactaggatgga	10	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:67577894C>T	ENST00000310421.4	-	1	1558	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	434					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.D434N(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGATGGACATCAGCAACCAAA	0.418																																					NSCLC(179;265 2915 6144 43644)												1	Substitution - Missense(1)	cervix(1)											128	127	127					8																	67577894		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1300G>A	8.37:g.67577894C>T	ENSP00000309031:p.Asp434Asn		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D434N	ENST00000310421.4	37	c.1300	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937793	0.73557	.	.	ENSG00000175073	ENST00000310421	T	0.39406	1.08	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.65376	-0.6183	10	0.72032	D	0.01	-15.7497	19.6397	0.95753	0.0:1.0:0.0:0.0	.	434	Q96JH7	VCIP1_HUMAN	N	434	ENSP00000309031:D434N	ENSP00000309031:D434N	D	-	1	0	VCPIP1	67740448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	GAT	VCPIP1	-	NULL		0.418	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67577894	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67577894	C	T	67577894	3	4	58	1	0	0	0	0	1	0	0	0	17172	826	29	1	2380	1	VCPIP1	8	67577894	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	22	67577894	78786128	610	8360										
CPNE3	8895	genome.wustl.edu	37	chr8	87552517	87552517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtttggaggcctttcaagatCtctcttaactcactgtgtta	8	9	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:87552517C>G	ENST00000521271.1	+	8	750	c.588C>G	c.(586-588)atC>atG	p.I196M	CPNE3_ENST00000198765.4_Missense_Mutation_p.I196M	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	196	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.I196M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTTCAAGATCTCTCTTAACT	0.299																																																	1	Substitution - Missense(1)	cervix(1)											85	96	92					8																	87552517		2203	4300	6503	SO:0001583	missense	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.588C>G	8.37:g.87552517C>G	ENSP00000430934:p.Ile196Met		A8KA47|Q8IYA1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.I196M	ENST00000521271.1	37	c.588	CCDS6243.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.939003|1.939003	0.34189|0.34189	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072|ENST00000517391	T;T;T|.	0.69435|.	-0.4;-0.4;-0.4|.	5.65|5.65	2.35|2.35	0.29111|0.29111	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60534|0.60534	0.2276|0.2276	M|M	0.64997|0.64997	1.995|1.995	0.53005|0.53005	D|D	0.999964|0.999964	D|.	0.57257|.	0.979|.	D|.	0.67725|.	0.953|.	T|T	0.56171|0.56171	-0.8023|-0.8023	10|5	0.87932|.	D|.	0|.	-21.1327|-21.1327	7.8939|7.8939	0.29695|0.29695	0.1253:0.6713:0.0:0.2033|0.1253:0.6713:0.0:0.2033	.|.	196|.	O75131|.	CPNE3_HUMAN|.	M|C	196|85	ENSP00000198765:I196M;ENSP00000430934:I196M;ENSP00000427791:I196M|.	ENSP00000198765:I196M|.	I|S	+|+	3|2	3|0	CPNE3|CPNE3	87621633|87621633	0.939000|0.939000	0.31865|0.31865	1.000000|1.000000	0.80357|0.80357	0.308000|0.308000	0.27856|0.27856	0.057000|0.057000	0.14279|0.14279	0.682000|0.682000	0.31407|0.31407	-0.218000|-0.218000	0.12543|0.12543	ATC|TCT	CPNE3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.299	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	HGNC	protein_coding	OTTHUMT00000374994.1	C			87552517	1	no_errors	ENST00000198765	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87552517	C	G	87552517	3	3	58	1	0	0	0	0	1	0	0	0	3818	903	32	1	610	1	CPNE3	8	87552517	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	19974623	87552517	58811505	611	8361										
CPNE3	8895	genome.wustl.edu	37	chr8	87559984	87559984	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actatataatgggaggatgtCagctgaattttactgtaagt	10	4	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:87559984C>T	ENST00000521271.1	+	11	1027	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q289*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	289					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGGAGGATGTCAGCTGAATTT	0.323																																																	0													86	71	76					8																	87559984		2202	4300	6502	SO:0001587	stop_gained	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.865C>T	8.37:g.87559984C>T	ENSP00000430934:p.Gln289*		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.Q289*	ENST00000521271.1	37	c.865	CCDS6243.1	8	.	.	.	.	.	.	.	.	.	.	C	38	7.112453	0.98070	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	.	.	.	5.95	5.95	0.96441	.	0.177160	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.3405	20.3886	0.98946	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000198765:Q289X	Q	+	1	0	CPNE3	87629100	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.738000	0.84966	2.824000	0.97209	0.655000	0.94253	CAG	CPNE3	-	smart_VWF_A		0.323	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	HGNC	protein_coding	OTTHUMT00000374994.1	C			87559984	1	no_errors	ENST00000198765	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	87559984	C	T	87559984	4	4	58	1	0	0	0	0	0	1	0	0	3818	827	29	1	899	1	CPNE3	8	87559984	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7467	87559984	58804038	612	8362										
MMP16	4325	genome.wustl.edu	37	chr8	89068395	89068395	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggttttcccgacgtcctccCaccaaatggctgaatcaata	7	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:89068395C>T	ENST00000286614.6	-	8	1615	c.1334G>A	c.(1333-1335)tGg>tAg	p.W445*		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	445					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W445*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GACGTCCTCCCACCAAATGGC	0.418																																																	1	Substitution - Nonsense(1)	cervix(1)											118	111	113					8																	89068395		2203	4300	6503	SO:0001587	stop_gained	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1334G>A	8.37:g.89068395C>T	ENSP00000286614:p.Trp445*		B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.W445*	ENST00000286614.6	37	c.1334	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	41	8.545134	0.98857	.	.	ENSG00000156103	ENST00000286614	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000286614:W445X	W	-	2	0	MMP16	89137511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.793000	0.96121	0.655000	0.94253	TGG	MMP16	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	C	NM_005941		89068395	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	89068395	C	T	89068395	4	4	58	1	0	0	0	0	0	1	0	0	9678	595	21	4	501	4	MMP16	8	89068395	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1508411	89068395	57295627	613	8363										
NIPAL2	79815	genome.wustl.edu	37	chr8	99208193	99208193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaagatatataaatacagtGagaaaaggagcaccaaggaa	9	4	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:99208193G>A	ENST00000341166.3	-	9	1176	c.921C>T	c.(919-921)ctC>ctT	p.L307L	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L307L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	307						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L307L(1)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TAAATACAGTGAGAAAAGGAG	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											51	53	52					8																	99208193		2203	4299	6502	SO:0001819	synonymous_variant	79815			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.921C>T	8.37:g.99208193G>A			A2RTY8	Silent	SNP	pfam_Mg_trans_NIPA	p.L307	ENST00000341166.3	37	c.921	CCDS6278.1	8																																																																																			NIPAL2	-	pfam_Mg_trans_NIPA		0.328	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	G	NM_024759		99208193	-1	no_errors	ENST00000341166	ensembl	human	known	70_37	silent	SNP	0.819	A	A	99208193	G	A	99208193	2	1	58	1	0	0	0	0	0	0	0	1	10449	1277	45	1		1	NIPAL2	8	99208193	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	10139798	99208193	47155829	614	8364										
NIPAL2	79815	genome.wustl.edu	37	chr8	99264812	99264812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccccaccacagcacactcttGaagtatggccttgggtgctc	9	15	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:99264812G>A	ENST00000341166.3	-	3	510	c.255C>T	c.(253-255)ttC>ttT	p.F85F	NIPAL2_ENST00000520545.1_5'Flank|NIPAL2_ENST00000430223.2_Silent_p.F85F	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	85						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F85F(2)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GCACACTCTTGAAGTATGGCC	0.493																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											104	85	91					8																	99264812		2203	4300	6503	SO:0001819	synonymous_variant	79815			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.255C>T	8.37:g.99264812G>A			A2RTY8	Silent	SNP	pfam_Mg_trans_NIPA	p.F85	ENST00000341166.3	37	c.255	CCDS6278.1	8																																																																																			NIPAL2	-	pfam_Mg_trans_NIPA		0.493	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	G	NM_024759		99264812	-1	no_errors	ENST00000341166	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99264812	G	A	99264812	2	1	58	1	0	0	0	0	0	0	0	1	10449	1281	45	1		1	NIPAL2	8	99264812	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	56619	99264812	47099210	615	8365										
RGS22	26166	genome.wustl.edu	37	chr8	101078512	101078512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcaaaccaatcttttgtttGagtataggaagcctaggaag	10	6	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:101078512G>C	ENST00000360863.6	-	7	801	c.607C>G	c.(607-609)Caa>Gaa	p.Q203E	RGS22_ENST00000523437.1_Missense_Mutation_p.Q191E|RGS22_ENST00000523287.1_Missense_Mutation_p.Q22E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	203					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q203E(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTTTTGTTTGAGTATAGGAA	0.343																																																	2	Substitution - Missense(2)	cervix(2)											152	141	144					8																	101078512		1866	4113	5979	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.607C>G	8.37:g.101078512G>C	ENSP00000354109:p.Gln203Glu		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.Q203E	ENST00000360863.6	37	c.607	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436453	0.43224	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000520117	T;T;T	0.34472	1.37;1.36;1.36	5.17	4.29	0.51040	.	0.492419	0.19293	N	0.117858	T	0.44644	0.1303	M	0.68952	2.095	0.29188	N	0.87604	B;B;P	0.40619	0.022;0.022;0.724	B;B;B	0.43155	0.011;0.011;0.41	T	0.49615	-0.8921	10	0.87932	D	0	.	15.6533	0.77115	0.0:0.1378:0.8622:0.0	.	191;203;22	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	E	203;191;22;191;122	ENSP00000354109:Q203E;ENSP00000429382:Q22E;ENSP00000428212:Q191E	ENSP00000354109:Q203E	Q	-	1	0	RGS22	101147688	1.000000	0.71417	0.955000	0.39395	0.898000	0.52572	3.900000	0.56295	1.148000	0.42385	0.591000	0.81541	CAA	RGS22	-	NULL		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	G	NM_015668		101078512	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101078512	G	C	101078512	3	2	58	1	0	0	0	0	1	0	0	0	13335	1299	45	1	3271	1	RGS22	8	101078512	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1813700	101078512	45285510	616	8366										
KLF10	7071	genome.wustl.edu	37	chr8	103664550	103664550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcttctacagcttcaaaatCacttttctctgcagttttgt	5	10	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:103664550C>T	ENST00000285407.6	-	2	412	c.112G>A	c.(112-114)Gat>Aat	p.D38N	KLF10_ENST00000395884.3_Missense_Mutation_p.D27N	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	38					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D38N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCTTCAAAATCACTTTTCTCT	0.358																																					Esophageal Squamous(16;495 519 2144 16528 44005)												1	Substitution - Missense(1)	cervix(1)											142	141	141					8																	103664550		2203	4300	6503	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.112G>A	8.37:g.103664550C>T	ENSP00000285407:p.Asp38Asn		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D38N	ENST00000285407.6	37	c.112	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858878	0.91433	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.59772	0.24;0.34	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.73962	2.25	0.58432	D	0.999992	D;D	0.56521	0.976;0.976	P;P	0.45538	0.484;0.484	T	0.68584	-0.5370	10	0.87932	D	0	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	38;27	Q13118;O75411	KLF10_HUMAN;.	N	38;27	ENSP00000285407:D38N;ENSP00000379222:D27N	ENSP00000285407:D38N	D	-	1	0	KLF10	103733726	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.346000	0.65992	2.861000	0.98227	0.650000	0.86243	GAT	KLF10	-	NULL		0.358	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	C			103664550	-1	no_errors	ENST00000285407	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103664550	C	T	103664550	3	4	58	1	0	0	0	0	1	0	0	0	8358	826	29	1	1342	1	KLF10	8	103664550	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2586038	103664550	42699472	617	8367										
WDR67	93594	genome.wustl.edu	37	chr8	124140567	124140567	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggatataaatgttgtgattaGacaagtttatcatctcatgg	9	4	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:124140567G>A	ENST00000287380.1	+	14	2021	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R539K|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R644K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R539K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R521K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R644K	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	644						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.R644K(1)									GTTGTGATTAGACAAGTTTAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											136	125	129					8																	124140567		2203	4300	6503	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1931G>A	8.37:g.124140567G>A	ENSP00000287380:p.Arg644Lys		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.R644K	ENST00000287380.1	37	c.1931	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841162	0.32513	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.73	2.95	0.34219	Rab-GAP/TBC domain (1);	0.222170	0.42420	N	0.000708	T	0.11537	0.0281	N	0.21373	0.66	0.27364	N	0.955886	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31833	-0.9929	10	0.09590	T	0.72	-6.8278	9.5097	0.39069	0.3347:0.0:0.6653:0.0	.	644;644;644	B7ZL19;Q96DN5-2;Q96DN5	.;.;WDR67_HUMAN	K	644;644;644;539;521;539	ENSP00000287380:R644K;ENSP00000308358:R644K;ENSP00000312701:R644K;ENSP00000429334:R539K;ENSP00000430628:R521K;ENSP00000367320:R539K	ENSP00000287380:R644K	R	+	2	0	WDR67	124209748	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	1.620000	0.36976	0.773000	0.33404	0.585000	0.79938	AGA	WDR67	-	superfamily_Rab-GTPase-TBC_dom		0.363	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	G	NM_145647		124140567	1	no_errors	ENST00000287380	ensembl	human	known	70_37	missense	SNP	0.712	A	A	124140567	G	A	124140567	3	1	58	1	0	0	0	0	1	0	0	0	17349	942	33	1	1985	1	WDR67	8	124140567	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	20476017	124140567	22223455	618	8368										
WDR67	93594	genome.wustl.edu	37	chr8	124146362	124146362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtttggccataggtatatatGagagatcgagaaattgctgc	12	5	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:124146362G>C	ENST00000287380.1	+	17	2505	c.2415G>C	c.(2413-2415)atG>atC	p.M805I	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.M359I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.M805I|TBC1D31_ENST00000522420.1_Missense_Mutation_p.M700I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.M682I|TBC1D31_ENST00000327098.5_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	805						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.M805I(1)									AGGTATATATGAGAGATCGAG	0.328																																																	1	Substitution - Missense(1)	cervix(1)											90	95	93					8																	124146362		2203	4300	6503	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2415G>C	8.37:g.124146362G>C	ENSP00000287380:p.Met805Ile		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.M805I	ENST00000287380.1	37	c.2415	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833156	0.32421	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	D;T;D;D;T	0.85013	-1.93;-0.1;-1.93;-1.93;1.03	5.49	5.49	0.81192	.	0.272886	0.37809	N	0.001927	T	0.77890	0.4198	L	0.29908	0.895	0.80722	D	1	B;P;B	0.40083	0.253;0.702;0.31	B;B;B	0.34418	0.115;0.182;0.085	T	0.80374	-0.1409	10	0.52906	T	0.07	-23.1178	17.1659	0.86816	0.0:0.0:1.0:0.0	.	805;700;805	Q96DN5-2;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	I	805;805;700;682;359	ENSP00000287380:M805I;ENSP00000308358:M805I;ENSP00000429334:M700I;ENSP00000430628:M682I;ENSP00000429494:M359I	ENSP00000287380:M805I	M	+	3	0	WDR67	124215543	1.000000	0.71417	0.999000	0.59377	0.507000	0.33981	4.829000	0.62737	2.583000	0.87209	0.655000	0.94253	ATG	WDR67	-	NULL		0.328	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	G	NM_145647		124146362	1	no_errors	ENST00000287380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	124146362	G	C	124146362	3	2	58	1	0	0	0	0	1	0	0	0	17349	1290	45	1	2481	1	WDR67	8	124146362	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5795	124146362	22217660	619	8369										
ZHX1	11244	genome.wustl.edu	37	chr8	124267638	124267638	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttatttttcatcattttcatGataggagttttactgataga	6	4	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:124267638G>C	ENST00000522655.1	-	3	1089	c.549C>G	c.(547-549)atC>atG	p.I183M	ZHX1_ENST00000395571.3_Missense_Mutation_p.I183M|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.I183M			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	183					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I183M(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCATTTTCATGATAGGAGTTT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											97	100	99					8																	124267638		2203	4298	6501	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.549C>G	8.37:g.124267638G>C	ENSP00000428821:p.Ile183Met		Q8IWD8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.I183M	ENST00000522655.1	37	c.549	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999656	0.35320	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.54675	0.56;0.56;0.56	5.66	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	.	.	.	0.45676	D	0.998591	D	0.76494	0.999	D	0.85130	0.997	T	0.64441	-0.6407	9	0.49607	T	0.09	-12.4502	8.8371	0.35119	0.2502:0.0:0.6455:0.1043	.	183	Q9UKY1	ZHX1_HUMAN	M	183	ENSP00000297857:I183M;ENSP00000378938:I183M;ENSP00000428821:I183M	ENSP00000297857:I183M	I	-	3	3	ZHX1	124336819	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.667000	0.25112	0.312000	0.23038	0.555000	0.69702	ATC	ZHX1	-	NULL		0.353	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	G			124267638	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	missense	SNP	0.996	C	C	124267638	G	C	124267638	3	2	58	1	0	0	0	0	1	0	0	0	17705	1280	45	1	2076	1	ZHX1	8	124267638	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	121276	124267638	22096384	620	8370										
MTSS1	9788	genome.wustl.edu	37	chr8	125565852	125565852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actggctgatgtcgctgtttCttggaatggtggaggacttg	15	6	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:125565852C>G	ENST00000518547.1	-	14	2122	c.1649G>C	c.(1648-1650)aGa>aCa	p.R550T	MTSS1_ENST00000524090.1_Missense_Mutation_p.R440T|MTSS1_ENST00000325064.5_Missense_Mutation_p.R554T|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.R268T|MTSS1_ENST00000378017.3_Missense_Mutation_p.R525T|MTSS1_ENST00000431961.2_Missense_Mutation_p.R268T|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.R324T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	550					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R550T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCGCTGTTTCTTGGAATGGT	0.507																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												1	Substitution - Missense(1)	cervix(1)											76	56	63					8																	125565852		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1649G>C	8.37:g.125565852C>G	ENSP00000429064:p.Arg550Thr		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.R550T	ENST00000518547.1	37	c.1649	CCDS6353.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396133|2.396133	0.42512|0.42512	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	.|T;T;T;T;T;T;T	.|0.74315	.|-0.58;-0.83;-0.31;-0.42;-0.83;-0.31;-0.63	5.89|5.89	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84955|0.84955	0.5587|0.5587	M|M	0.70595|0.70595	2.14|2.14	0.46260|0.46260	D|D	0.99895|0.99895	.|P;D;D;D;D;D;D	.|0.89917	.|0.693;1.0;1.0;0.999;1.0;0.996;0.999	.|B;D;D;D;D;D;D	.|0.85130	.|0.318;0.997;0.996;0.991;0.997;0.99;0.994	D|D	0.85678|0.85678	0.1299|0.1299	5|10	.|0.49607	.|T	.|0.09	-19.5561|-19.5561	15.2205|15.2205	0.73308|0.73308	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	.|440;324;525;550;525;268;199	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.|.;.;.;MTSS1_HUMAN;.;.;.	N|T	337|525;550;268;324;554;268;440	.|ENSP00000367256:R525T;ENSP00000429064:R550T;ENSP00000346119:R268T;ENSP00000378884:R324T;ENSP00000322804:R554T;ENSP00000393606:R268T;ENSP00000428319:R440T	.|ENSP00000322804:R554T	K|R	-|-	3|2	2|0	MTSS1|MTSS1	125635033|125635033	0.999000|0.999000	0.42202|0.42202	0.225000|0.225000	0.23894|0.23894	0.001000|0.001000	0.01503|0.01503	7.818000|7.818000	0.86416|0.86416	1.501000|1.501000	0.48654|0.48654	-0.291000|-0.291000	0.09656|0.09656	AAG|AGA	MTSS1	-	NULL		0.507	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	C	NM_014751		125565852	-1	no_errors	ENST00000518547	ensembl	human	known	70_37	missense	SNP	0.837	G	G	125565852	C	G	125565852	3	3	58	1	0	0	0	0	1	0	0	0	9985	913	32	1	622	1	MTSS1	8	125565852	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1298214	125565852	20798170	621	8371										
KIAA0196	9897	genome.wustl.edu	37	chr8	126051122	126051122	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctccagataggctgtgatttCatataaaagtgtgttatctt	8	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:126051122C>G	ENST00000318410.7	-	25	3383	c.3034G>C	c.(3034-3036)Gaa>Caa	p.E1012Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E864Q|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1012					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.E1012Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTGTGATTTCATATAAAAGT	0.438																																																	1	Substitution - Missense(1)	cervix(1)											140	141	141					8																	126051122		2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3034G>C	8.37:g.126051122C>G	ENSP00000318016:p.Glu1012Gln		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E1012Q	ENST00000318410.7	37	c.3034	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.926782|4.926782	0.92319|0.92319	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86297|.	-2.1;-2.1|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.091197|.	0.85682|.	D|.	0.000000|.	D|D	0.83562|0.83562	0.5281|0.5281	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;P|.	0.58620|.	0.983;0.503|.	P;B|.	0.59288|.	0.855;0.291|.	D|D	0.83792|0.83792	0.0231|0.0231	10|5	0.56958|.	D|.	0.05|.	-21.9114|-21.9114	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	864;1012|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Q|I	1012;864|628	ENSP00000318016:E1012Q;ENSP00000429676:E864Q|.	ENSP00000318016:E1012Q|.	E|M	-|-	1|3	0|0	KIAA0196|KIAA0196	126120304|126120304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAA|ATG	KIAA0196	-	pfam_WASH_strumpellin		0.438	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	C	NM_014846		126051122	-1	no_errors	ENST00000318410	ensembl	human	known	70_37	missense	SNP	1.000	G	G	126051122	C	G	126051122	3	3	58	1	0	0	0	0	1	0	0	0	8181	835	29	1	465	1	KIAA0196	8	126051122	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	485270	126051122	20312900	622	8372										
ADCY8	114	genome.wustl.edu	37	chr8	131964194	131964194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccacattggtcatgtcgttGatcatttccaggacaacaaa	7	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:131964194G>A	ENST00000286355.5	-	3	3253	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.I387I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	387					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.I387I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCATGTCGTTGATCATTTCCA	0.522										HNSCC(32;0.087)																																							1	Substitution - coding silent(1)	cervix(1)											164	131	142					8																	131964194		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1161C>T	8.37:g.131964194G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I387	ENST00000286355.5	37	c.1161	CCDS6363.1	8																																																																																			ADCY8	-	smart_A/G_cyclase		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			131964194	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131964194	G	A	131964194	2	1	58	1	0	0	0	0	0	0	0	1	300	1280	45	1		1	ADCY8	8	131964194	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5913072	131964194	14399828	623	8373										
EPPK1	83481	genome.wustl.edu	37	chr8	144945860	144945860	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagcatcgccctctgctctGaggagatggcctcagagaag	12	13	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144945860G>C	ENST00000525985.1	-	2	1633	c.1562C>G	c.(1561-1563)tCa>tGa	p.S521*				P58107	EPIPL_HUMAN	epiplakin 1	521						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.S521*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCTGCTCTGAGGAGATGGC	0.682																																																	1	Substitution - Nonsense(1)	cervix(1)											13	16	15					8																	144945860		1992	4153	6145	SO:0001587	stop_gained	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1562C>G	8.37:g.144945860G>C	ENSP00000436337:p.Ser521*		Q76E58|Q9NSU9	Nonsense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.S521*	ENST00000525985.1	37	c.1562		8	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249635	0.59212	.	.	ENSG00000227184	ENST00000525985	.	.	.	5.12	-2.66	0.06077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	5.6183	0.17444	0.1583:0.1334:0.5768:0.1316	.	.	.	.	X	521	.	ENSP00000436337:S521X	S	-	2	0	EPPK1	145017848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.016000	0.13377	-0.769000	0.04620	-0.302000	0.09304	TCA	EPPK1	-	NULL		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144945860	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	144945860	G	C	144945860	4	2	58	1	0	0	0	0	0	1	0	0	5202	1294	45	1	5704	1	EPPK1	8	144945860	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	12981666	144945860	1418162	624	8374										
PLEC	5339	genome.wustl.edu	37	chr8	144996564	144996564	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctgctgcaccgtctgcatCtgcagaagaagagggtgtga	13	10	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144996564C>G	ENST00000322810.4	-	32	8006		c.e32-1		PLEC_ENST00000354589.3_Splice_Site|PLEC_ENST00000354958.2_Splice_Site|PLEC_ENST00000357649.2_Splice_Site|PLEC_ENST00000398774.2_Splice_Site|PLEC_ENST00000527096.1_Splice_Site|PLEC_ENST00000356346.3_Splice_Site|PLEC_ENST00000345136.3_Splice_Site|PLEC_ENST00000436759.2_Splice_Site	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.?(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGTCTGCATCTGCAGAAGAA	0.642																																																	3	Unknown(3)	cervix(3)											33	38	36					8																	144996564		2025	4154	6179	SO:0001630	splice_region_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7837-1G>C	8.37:g.144996564C>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Splice_Site	SNP	-	e32-1	ENST00000322810.4	37	c.7837-1	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239744	0.22711	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000527303	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5958	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLEC	145068552	1.000000	0.71417	0.994000	0.49952	0.161000	0.22273	7.088000	0.76901	2.257000	0.74773	0.448000	0.29417	.	PLEC	-	-		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445	Intron	144996564	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	144996564	C	G	144996564	5	3	58	1	0	0	0	0	0	0	1	0	12076	927	32	1	6222	1	PLEC	8	144996564	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	50704	144996564	1367458	625	8375			2	38		5	5	3126	C		1.335617e-05
PLEC	5339	genome.wustl.edu	37	chr8	144997172	144997172	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttctccttgagcatcttctCtgccaaggcccgctgctgtg	9	15	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144997172C>G	ENST00000322810.4	-	31	7505	c.7336G>C	c.(7336-7338)Gag>Cag	p.E2446Q	PLEC_ENST00000354589.3_Missense_Mutation_p.E2309Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2287Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2313Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2277Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2332Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2295Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2309Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2336Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2446	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E2446Q(1)|p.E2309Q(1)|p.E2336Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCATCTTCTCTGCCAAGGCC	0.677																																																	3	Substitution - Missense(3)	cervix(3)											15	17	17					8																	144997172		2181	4285	6466	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7336G>C	8.37:g.144997172C>G	ENSP00000323856:p.Glu2446Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2446Q	ENST00000322810.4	37	c.7336	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246048	0.39697	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80480	-1.31;-1.31;-1.34;-1.34;-1.32;-1.31;-1.38;-1.31;-1.31	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000006	D	0.87422	0.6173	M	0.62723	1.935	0.54753	D	0.999981	D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.993;0.996;0.996;0.996;0.996	P;P;P;P;P;P;P;P	0.62298	0.9;0.9;0.836;0.796;0.836;0.836;0.9;0.836	D	0.88112	0.2826	10	0.56958	D	0.05	.	18.2156	0.89884	0.0:1.0:0.0:0.0	.	2336;2295;2287;2446;2277;2309;2313;2309	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2309;2313;2309;2277;2446;2287;2295;2336;2332	ENSP00000344848:E2309Q;ENSP00000350277:E2313Q;ENSP00000346602:E2309Q;ENSP00000381756:E2277Q;ENSP00000323856:E2446Q;ENSP00000347044:E2287Q;ENSP00000348702:E2295Q;ENSP00000388180:E2336Q;ENSP00000434583:E2332Q	ENSP00000323856:E2446Q	E	-	1	0	PLEC	145069160	1.000000	0.71417	0.941000	0.38009	0.827000	0.46813	5.916000	0.69981	2.415000	0.81967	0.549000	0.68633	GAG	PLEC	-	superfamily_Chorismate_mutase_type_II		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997172	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144997172	C	G	144997172	3	3	58	1	0	0	0	0	1	0	0	0	12076	922	32	1	6726	1	PLEC	8	144997172	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	608	144997172	1366850	626	8376			2	38		5	5	3126	C		1.335617e-05
PLEC	5339	genome.wustl.edu	37	chr8	144997494	144997494	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctcgtccagcaggttcttCtggtggtcggtctcctccag	11	14	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144997494C>G	ENST00000322810.4	-	31	7183	c.7014G>C	c.(7012-7014)caG>caC	p.Q2338H	PLEC_ENST00000354589.3_Missense_Mutation_p.Q2201H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2179H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2205H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2169H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2224H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2187H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2201H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2228H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2338	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.Q2228H(1)|p.Q2338H(1)|p.Q2201H(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGGTTCTTCTGGTGGTCGG	0.657																																																	3	Substitution - Missense(3)	cervix(3)											12	13	13					8																	144997494		2098	4217	6315	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7014G>C	8.37:g.144997494C>G	ENSP00000323856:p.Gln2338His		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q2338H	ENST00000322810.4	37	c.7014	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348116	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78003	-1.1;-1.1;-1.14;-1.13;-1.14;-1.1;-1.09;-1.13;-1.1	5.11	5.11	0.69529	.	0.000000	0.64402	U	0.000011	D	0.86560	0.5962	M	0.62016	1.91	0.49582	D	0.999802	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.85956	0.1467	10	0.41790	T	0.15	.	18.1196	0.89567	0.0:1.0:0.0:0.0	.	2228;2187;2179;2338;2169;2201;2205;2201	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	2201;2205;2201;2169;2338;2179;2187;2228;2224	ENSP00000344848:Q2201H;ENSP00000350277:Q2205H;ENSP00000346602:Q2201H;ENSP00000381756:Q2169H;ENSP00000323856:Q2338H;ENSP00000347044:Q2179H;ENSP00000348702:Q2187H;ENSP00000388180:Q2228H;ENSP00000434583:Q2224H	ENSP00000323856:Q2338H	Q	-	3	2	PLEC	145069482	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.151000	0.50670	2.372000	0.80975	0.549000	0.68633	CAG	PLEC	-	NULL		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997494	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144997494	C	G	144997494	3	3	58	1	0	0	0	0	1	0	0	0	12076	912	32	1	7048	1	PLEC	8	144997494	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	322	144997494	1366528	627	8377			2	38		5	5	3126	C		1.335617e-05
PLEC	5339	genome.wustl.edu	37	chr8	144997691	144997691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcctccttgcgcagcttctCtgcagccgcctgtgcctgag	12	16	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144997691C>G	ENST00000322810.4	-	31	6986	c.6817G>C	c.(6817-6819)Gag>Cag	p.E2273Q	PLEC_ENST00000354589.3_Missense_Mutation_p.E2136Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2114Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2140Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2104Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2159Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2122Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2136Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2163Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2273	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E2136Q(1)|p.E2163Q(1)|p.E2273Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCAGCTTCTCTGCAGCCGCC	0.721																																																	3	Substitution - Missense(3)	cervix(3)											8	10	9					8																	144997691		1973	4046	6019	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6817G>C	8.37:g.144997691C>G	ENSP00000323856:p.Glu2273Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2273Q	ENST00000322810.4	37	c.6817	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128812	0.21041	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80393	-1.31;-1.31;-1.34;-1.31;-1.37;-1.3;-1.3;-1.31;-1.31	4.98	4.98	0.66077	.	0.000000	0.64402	U	0.000006	D	0.88930	0.6571	M	0.76328	2.33	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.87083	0.2167	10	0.27082	T	0.32	.	17.835	0.88693	0.0:1.0:0.0:0.0	.	2163;2122;2114;2273;2104;2136;2140;2136	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2136;2140;2136;2104;2273;2114;2122;2163;2159	ENSP00000344848:E2136Q;ENSP00000350277:E2140Q;ENSP00000346602:E2136Q;ENSP00000381756:E2104Q;ENSP00000323856:E2273Q;ENSP00000347044:E2114Q;ENSP00000348702:E2122Q;ENSP00000388180:E2163Q;ENSP00000434583:E2159Q	ENSP00000323856:E2273Q	E	-	1	0	PLEC	145069679	1.000000	0.71417	0.932000	0.37286	0.103000	0.19146	4.692000	0.61746	2.302000	0.77476	0.448000	0.29417	GAG	PLEC	-	NULL		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997691	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144997691	C	G	144997691	3	3	58	1	0	0	0	0	1	0	0	0	12076	922	32	1	7245	1	PLEC	8	144997691	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	197	144997691	1366331	628	8378			2	38		5	5	3126	C		1.335617e-05
PLEC	5339	genome.wustl.edu	37	chr8	144999689	144999689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcagctccccctcagcccCgccacgctggcgctcggtgg	12	20	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144999689C>T	ENST00000322810.4	-	31	4988	c.4819G>A	c.(4819-4821)Ggg>Agg	p.G1607R	PLEC_ENST00000354589.3_Missense_Mutation_p.G1470R|PLEC_ENST00000354958.2_Missense_Mutation_p.G1448R|PLEC_ENST00000357649.2_Missense_Mutation_p.G1474R|PLEC_ENST00000398774.2_Missense_Mutation_p.G1438R|PLEC_ENST00000527096.1_Missense_Mutation_p.G1493R|PLEC_ENST00000356346.3_Missense_Mutation_p.G1456R|PLEC_ENST00000345136.3_Missense_Mutation_p.G1470R|PLEC_ENST00000436759.2_Missense_Mutation_p.G1497R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1607	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.G1497R(1)|p.G1607R(1)|p.G1470R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTCAGCCCCGCCACGCTGG	0.731																																																	3	Substitution - Missense(3)	cervix(3)											9	9	9					8																	144999689		1818	3698	5516	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4819G>A	8.37:g.144999689C>T	ENSP00000323856:p.Gly1607Arg		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.G1607R	ENST00000322810.4	37	c.4819	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402207	0.25291	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	4.43	4.43	0.53597	.	0.294815	0.26995	U	0.021460	T	0.27454	0.0674	L	0.44542	1.39	0.34048	D	0.655849	D;D;D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	P;P;P;P;P;P;P;P	0.52909	0.713;0.713;0.713;0.52;0.713;0.713;0.713;0.713	T	0.34625	-0.9821	10	0.41790	T	0.15	.	12.0083	0.53272	0.0:0.911:0.0:0.089	.	1497;1456;1448;1607;1438;1470;1474;1470	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	1470;1474;1470;1438;1607;1448;1456;1497;1493	ENSP00000344848:G1470R;ENSP00000350277:G1474R;ENSP00000346602:G1470R;ENSP00000381756:G1438R;ENSP00000323856:G1607R;ENSP00000347044:G1448R;ENSP00000348702:G1456R;ENSP00000388180:G1497R;ENSP00000434583:G1493R	ENSP00000323856:G1607R	G	-	1	0	PLEC	145071677	0.000000	0.05858	0.876000	0.34364	0.168000	0.22595	0.376000	0.20535	2.163000	0.67991	0.442000	0.29010	GGG	PLEC	-	NULL		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144999689	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.978	T	T	144999689	C	T	144999689	3	4	58	1	0	0	0	0	1	0	0	0	12076	652	23	2	9243	2	PLEC	8	144999689	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1998	144999689	1364333	629	8379			2	38		5	5	3126	C		1.335617e-05
C9orf66	157983	genome.wustl.edu	37	chr9	214587	214587	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctacattccctggcagcctCgcagcttcgggcagatggag	12	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:214587C>G	ENST00000382387.2	-	1	1306	c.810G>C	c.(808-810)gcG>gcC	p.A270A	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	270								p.A270A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCAGCCTCGCAGCTTCGG	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											30	31	31					9																	214587		2203	4300	6503	SO:0001819	synonymous_variant	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.810G>C	9.37:g.214587C>G			Q96NB0	Silent	SNP	NULL	p.A270	ENST00000382387.2	37	c.810	CCDS6439.1	9																																																																																			C9orf66	-	NULL		0.677	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	HGNC	protein_coding	OTTHUMT00000055436.1	C	NM_152569		214587	-1	no_errors	ENST00000382387	ensembl	human	known	70_37	silent	SNP	0.000	G	G	214587	C	G	214587	2	3	58	1	0	0	0	0	0	0	0	1	2495	871	31	1		1	C9orf66	9	214587	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		214587	140998844	630	8380										
KIAA0020	9933	genome.wustl.edu	37	chr9	2837402	2837402	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtctttgaagaaccagaatCtagtgacaataataattata	6	5	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:2837402C>G	ENST00000397885.2	-	3	289		c.e3-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAACCAGAATCTAGTGACAAT	0.318																																																	1	Unknown(1)	cervix(1)											77	65	69					9																	2837402		1803	4069	5872	SO:0001630	splice_region_variant	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.83-1G>C	9.37:g.2837402C>G			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Splice_Site	SNP	-	e2-1	ENST00000397885.2	37	c.83-1	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595380	0.28445	.	.	ENSG00000080608	ENST00000397885	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6428	0.45602	0.0:0.9112:0.0:0.0888	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0020	2827402	1.000000	0.71417	0.997000	0.53966	0.431000	0.31685	3.282000	0.51693	2.528000	0.85240	0.655000	0.94253	.	KIAA0020	-	-		0.318	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	C	NM_014878	Intron	2837402	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	2837402	C	G	2837402	5	3	58	1	0	0	0	0	0	0	1	0	8172	927	32	1	1928	1	KIAA0020	9	2837402	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2622815	2837402	138376029	631	8381										
RFX3	5991	genome.wustl.edu	37	chr9	3277378	3277378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttggctttgggcaattacaGtttgctcaacagatgtgcct	11	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:3277378G>A	ENST00000382004.3	-	9	1246	c.935C>T	c.(934-936)aCt>aTt	p.T312I	RFX3_ENST00000358730.2_Missense_Mutation_p.T312I|RFX3_ENST00000302303.1_Missense_Mutation_p.T312I	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	312					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T312I(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGCAATTACAGTTTGCTCAAC	0.393																																																	2	Substitution - Missense(2)	cervix(2)											188	163	172					9																	3277378		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.935C>T	9.37:g.3277378G>A	ENSP00000371434:p.Thr312Ile		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.T312I	ENST00000382004.3	37	c.935	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388888	0.61956	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.59224	0.29;0.28;0.28	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.43152	1.355	0.80722	D	1	B;P;B	0.41643	0.056;0.758;0.129	B;B;B	0.37601	0.113;0.254;0.075	T	0.54463	-0.8290	10	0.42905	T	0.14	-13.2211	19.5327	0.95235	0.0:0.0:1.0:0.0	.	312;312;312	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	I	312	ENSP00000371434:T312I;ENSP00000351574:T312I;ENSP00000303847:T312I	ENSP00000303847:T312I	T	-	2	0	RFX3	3267378	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.504000	0.81646	2.621000	0.88768	0.460000	0.39030	ACT	RFX3	-	NULL		0.393	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	G	NM_002919		3277378	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3277378	G	A	3277378	3	1	58	1	0	0	0	0	1	0	0	0	13294	1029	36	4	1510	4	RFX3	9	3277378	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	439976	3277378	137936053	632	8382										
RFX3	5991	genome.wustl.edu	37	chr9	3277390	3277390	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caattacagtttgctcaacaGatgtgcctgtctgttgacca	8	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:3277390G>C	ENST00000382004.3	-	9	1234	c.923C>G	c.(922-924)tCt>tGt	p.S308C	RFX3_ENST00000358730.2_Missense_Mutation_p.S308C|RFX3_ENST00000302303.1_Missense_Mutation_p.S308C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	308					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S308C(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTGCTCAACAGATGTGCCTGT	0.373																																																	2	Substitution - Missense(2)	cervix(2)											192	165	174					9																	3277390		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.923C>G	9.37:g.3277390G>C	ENSP00000371434:p.Ser308Cys		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S308C	ENST00000382004.3	37	c.923	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459482	0.63401	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.60040	0.23;0.22;0.22	5.56	5.56	0.83823	.	0.053489	0.85682	D	0.000000	T	0.70002	0.3174	L	0.42245	1.32	0.58432	D	0.999995	D;B;P	0.76494	0.999;0.018;0.847	D;B;P	0.68765	0.96;0.046;0.57	T	0.67677	-0.5609	10	0.41790	T	0.15	-11.8623	19.5327	0.95235	0.0:0.0:1.0:0.0	.	308;308;308	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	C	308	ENSP00000371434:S308C;ENSP00000351574:S308C;ENSP00000303847:S308C	ENSP00000303847:S308C	S	-	2	0	RFX3	3267390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.054000	0.93866	2.621000	0.88768	0.460000	0.39030	TCT	RFX3	-	NULL		0.373	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	G	NM_002919		3277390	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3277390	G	C	3277390	3	2	58	1	0	0	0	0	1	0	0	0	13294	942	33	1	1522	1	RFX3	9	3277390	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	12	3277390	137936041	633	8383										
JAK2	3717	genome.wustl.edu	37	chr9	5089755	5089755	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggtcgctgtaaaaaagcttCagcatagtactgaagagcac	10	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:5089755C>A	ENST00000381652.3	+	20	3147	c.2653C>A	c.(2653-2655)Cag>Aag	p.Q885K	JAK2_ENST00000544510.1_Missense_Mutation_p.Q736K|JAK2_ENST00000539801.1_Missense_Mutation_p.Q885K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	885	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAAAAAGCTTCAGCATAGTAC	0.438		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													134	121	125					9																	5089755		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2653C>A	9.37:g.5089755C>A	ENSP00000371067:p.Gln885Lys		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q885K	ENST00000381652.3	37	c.2653	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507178	0.64410	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.80738	-1.41;-1.41;-1.41	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	N	0.01473	-0.845	0.80722	D	1	P	0.47545	0.897	P	0.46076	0.503	T	0.66504	-0.5907	10	0.08599	T	0.76	-8.4586	18.9036	0.92452	0.0:1.0:0.0:0.0	.	885	O60674	JAK2_HUMAN	K	885;885;736	ENSP00000440387:Q885K;ENSP00000371067:Q885K;ENSP00000443103:Q736K	ENSP00000371067:Q885K	Q	+	1	0	JAK2	5079755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.386000	0.79775	2.457000	0.83068	0.650000	0.86243	CAG	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.438	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	C			5089755	1	no_errors	ENST00000381652	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5089755	C	A	5089755	3	1	58	1	0	0	0	0	1	0	0	0	7958	827	29	3	2723	3	JAK2	9	5089755	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1812365	5089755	136123676	634	8384										
KIAA1432	57589	genome.wustl.edu	37	chr9	5774025	5774025	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctcagtgagataacagaaGagcaggtccagccagatgcc	12	10	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:5774025G>C	ENST00000414202.2	+	26	4242	c.4051G>C	c.(4051-4053)Gag>Cag	p.E1351Q	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1235Q|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1272Q	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.E1272Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATAACAGAAGAGCAGGTCCA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											80	75	77					9																	5774025		2203	4300	6503	SO:0001583	missense	57589																														ENST00000414202.2:c.4051G>C	9.37:g.5774025G>C	ENSP00000416696:p.Glu1351Gln			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.E1272Q	ENST00000414202.2	37	c.3814	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.391891|2.391891	0.42410|0.42410	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.94|5.94	5.04|5.04	0.67666|0.67666	.|.	0.047357|.	0.85682|.	D|.	0.000000|.	T|T	0.73361|0.73361	0.3577|0.3577	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	B;B|.	0.22346|.	0.068;0.068|.	B;B|.	0.21708|.	0.036;0.036|.	T|T	0.73036|0.73036	-0.4109|-0.4109	9|5	0.17369|.	T|.	0.5|.	-18.3632|-18.3632	17.2277|17.2277	0.86975|0.86975	0.0:0.1258:0.8742:0.0|0.0:0.1258:0.8742:0.0	.|.	1235;1351|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	Q|T	1351;1272;1235|1242	.|.	ENSP00000416696:E1351Q|.	E|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5764025|5764025	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.849000|0.849000	0.48306|0.48306	6.196000|6.196000	0.72094|0.72094	1.504000|1.504000	0.48704|0.48704	0.561000|0.561000	0.74099|0.74099	GAG|AGA	KIAA1432	-	NULL		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	G			5774025	1	no_errors	ENST00000418622	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5774025	G	C	5774025	3	2	58	1	0	0	0	0	1	0	0	0	8253	943	33	1	3986	1	KIAA1432	9	5774025	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	684270	5774025	135439406	635	8385										
UHRF2	115426	genome.wustl.edu	37	chr9	6421009	6421009	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgatcatcttcctggcacatCtacacagattgaggctaaac	7	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:6421009C>G	ENST00000276893.5	+	2	419	c.251C>G	c.(250-252)tCt>tGt	p.S84C	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.S84C	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	84					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S84C(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CCTGGCACATCTACACAGATT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											139	128	132					9																	6421009		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.251C>G	9.37:g.6421009C>G	ENSP00000276893:p.Ser84Cys		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.S84C	ENST00000276893.5	37	c.251	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691316	0.88735	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.24538	1.85;2.67	5.55	5.55	0.83447	.	0.916559	0.09488	N	0.795398	T	0.46600	0.1401	L	0.58101	1.795	0.48395	D	0.999646	D	0.62365	0.991	P	0.54759	0.76	T	0.39623	-0.9605	10	0.66056	D	0.02	-15.5867	19.5161	0.95165	0.0:1.0:0.0:0.0	.	84	Q96PU4	UHRF2_HUMAN	C	84	ENSP00000276893:S84C;ENSP00000370778:S84C	ENSP00000276893:S84C	S	+	2	0	UHRF2	6411009	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.345000	0.59360	2.605000	0.88082	0.467000	0.42956	TCT	UHRF2	-	NULL		0.433	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	C	NM_152306		6421009	1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6421009	C	G	6421009	3	3	58	1	0	0	0	0	1	0	0	0	17001	913	32	1	257	1	UHRF2	9	6421009	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	646984	6421009	134792422	636	8386										
MLLT3	4300	genome.wustl.edu	37	chr9	20414065	20414065	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatctggttttggctcttttGacatgggtttaggttccttg	11	6	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:20414065G>C	ENST00000380338.4	-	5	1065	c.779C>G	c.(778-780)tCa>tGa	p.S260*	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.S257*|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	260					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S260*(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGCTCTTTTGACATGGGTTT	0.398			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	1	Substitution - Nonsense(1)	cervix(1)											300	303	302					9																	20414065		2203	4300	6503	SO:0001587	stop_gained	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.779C>G	9.37:g.20414065G>C	ENSP00000369695:p.Ser260*		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Nonsense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S260*	ENST00000380338.4	37	c.779	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.693469	0.96793	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.79	5.79	0.91817	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-7.6124	20.004	0.97428	0.0:0.0:1.0:0.0	.	.	.	.	X	260;257;299	.	ENSP00000369695:S260X	S	-	2	0	MLLT3	20404065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.364000	0.73086	2.728000	0.93425	0.655000	0.94253	TCA	MLLT3	-	NULL		0.398	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	G	NM_004529		20414065	-1	no_errors	ENST00000380338	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	20414065	G	C	20414065	4	2	58	1	0	0	0	0	0	1	0	0	9651	1294	45	1	955	1	MLLT3	9	20414065	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	13993056	20414065	120799366	637	8387										
C9orf131	138724	genome.wustl.edu	37	chr9	35043372	35043372	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcttccccagtatcactcctCagcccagttttctacccatg	5	17	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:35043372C>T	ENST00000312292.5	+	2	793	c.746C>T	c.(745-747)tCa>tTa	p.S249L	C9orf131_ENST00000421362.2_Missense_Mutation_p.S201L|C9orf131_ENST00000354479.5_Missense_Mutation_p.S176L|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	249								p.S249L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TATCACTCCTCAGCCCAGTTT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											155	145	148					9																	35043372		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.746C>T	9.37:g.35043372C>T	ENSP00000308279:p.Ser249Leu		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.S249L	ENST00000312292.5	37	c.746	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366494	0.41902	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.36878	2.17;2.15;2.18;1.23	5.1	2.21	0.28008	.	0.896303	0.09366	N	0.812059	T	0.32615	0.0835	L	0.55481	1.735	0.09310	N	1	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.08055	0.003;0.003;0.003	T	0.28073	-1.0055	10	0.49607	T	0.09	0.2694	7.1888	0.25814	0.0:0.7157:0.0:0.2843	.	249;176;201	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	L	201;176;249;214	ENSP00000393683:S201L;ENSP00000346472:S176L;ENSP00000308279:S249L;ENSP00000368019:S214L	ENSP00000308279:S249L	S	+	2	0	C9orf131	35033372	0.011000	0.17503	0.004000	0.12327	0.045000	0.14185	0.353000	0.20130	0.736000	0.32559	0.650000	0.86243	TCA	C9orf131	-	NULL		0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	C	NM_203299		35043372	1	no_errors	ENST00000312292	ensembl	human	known	70_37	missense	SNP	0.001	T	T	35043372	C	T	35043372	3	4	58	1	0	0	0	0	1	0	0	0	2462	838	29	1	768	1	C9orf131	9	35043372	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	14629307	35043372	106170059	638	8388										
CBWD3	220869	genome.wustl.edu	37	chr9	70490008	70490008	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtctcaatgggaaccaattCaggacaatcctcctccgcag	8	14	2	0	rs371887218		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:70490008C>G	ENST00000382405.3	-	1	238	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	CBWD5_ENST00000377395.4_Missense_Mutation_p.E21Q|CBWD5_ENST00000429800.2_Missense_Mutation_p.E21Q|CBWD5_ENST00000430059.2_Missense_Mutation_p.E21Q|CBWD5_ENST00000377392.5_5'Flank|CBWD5_ENST00000377384.1_Missense_Mutation_p.E21Q			Q5RIA9	CBWD5_HUMAN	COBW domain containing 5	21							ATP binding (GO:0005524)								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGAACCAATTCAGGACAATCC	0.547																																																	0								C	GLN/GLU	1,3279		0,1,1639	12	13	13		61	3.1	1	9		13	0,6666		0,0,3333	no	missense	CBWD5	NM_001024916.2	29	0,1,4972	GG,GC,CC		0.0,0.0305,0.0101	possibly-damaging	21/348	70490008	1,9945	1640	3333	4973	SO:0001583	missense	220869			BC067803, BC082271	CCDS75841.1, CCDS75843.1, CCDS75844.1	9q13	2005-08-23			ENSG00000147996	ENSG00000147996			24584	protein-coding gene	gene with protein product	"dopamine responsive protein"						Standard	XM_005272748		Approved		uc004ack.3	Q5RIA9	OTTHUMG00000013336	ENST00000382405.3:c.61G>C	9.37:g.70490008C>G	ENSP00000371842:p.Glu21Gln		Q8N7U8	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.E21Q	ENST00000382405.3	37	c.61		9	.	.	.	.	.	.	.	.	.	.	.	21.4	4.138504	0.77775	3.05E-4	0.0	ENSG00000147996	ENST00000382405;ENST00000377395;ENST00000430059;ENST00000429800;ENST00000377384	T;T;T;T;T	0.46063	3.05;3.03;3.05;3.04;0.88	3.14	3.14	0.36123	.	0.107611	0.64402	D	0.000008	T	0.46908	0.1417	L	0.31578	0.945	0.80722	D	1	P;D;D	0.71674	0.953;0.998;0.969	P;D;P	0.65684	0.631;0.937;0.451	T	0.36672	-0.9738	10	0.34782	T	0.22	-15.0125	12.1452	0.54020	0.0:1.0:0.0:0.0	.	21;21;21	B4DNG9;Q5RIA9-3;Q5RIA9	.;.;CBWD5_HUMAN	Q	21	ENSP00000371842:E21Q;ENSP00000366612:E21Q;ENSP00000397999:E21Q;ENSP00000405076:E21Q;ENSP00000366601:E21Q	ENSP00000366601:E21Q	E	-	1	0	CBWD5	69729828	1.000000	0.71417	0.980000	0.43619	0.937000	0.57800	6.152000	0.71812	1.738000	0.51689	0.393000	0.25936	GAA	CBWD5	-	NULL		0.547	CBWD5-001	KNOWN	basic|appris_principal	protein_coding	CBWD5	HGNC	protein_coding	OTTHUMT00000037131.2	C			70490008	-1	no_errors	ENST00000382405	ensembl	human	known	70_37	missense	SNP	0.998	G	G	70490008	C	G	70490008	3	3	58	1	0	0	0	0	1	0	0	0	2719	835	29	1	1186	1	CBWD3	9	70490008	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	35446636	70490008	70723423	639	8389										
VPS13A	23230	genome.wustl.edu	37	chr9	79952270	79952270	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatggtgctcttctaaagaaGaaatgtagatctaaaaaccc	8	7	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:79952270G>C	ENST00000360280.3	+	47	6455	c.6195G>C	c.(6193-6195)aaG>aaC	p.K2065N	VPS13A_ENST00000376636.3_Missense_Mutation_p.K2026N|VPS13A_ENST00000376634.4_Missense_Mutation_p.K2065N|VPS13A_ENST00000357409.5_Missense_Mutation_p.K2065N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2065					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.K2065N(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCTAAAGAAGAAATGTAGAT	0.303																																																	3	Substitution - Missense(3)	cervix(3)											46	49	48					9																	79952270		2203	4298	6501	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6195G>C	9.37:g.79952270G>C	ENSP00000353422:p.Lys2065Asn		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.K2065N	ENST00000360280.3	37	c.6195	CCDS6655.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.59|12.59	1.984368|1.984368	0.35036|0.35036	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.47177|.	1.02;0.85;0.93;1.02|.	5.3|5.3	4.41|4.41	0.53225|0.53225	.|.	0.178012|.	0.50627|.	D|.	0.000114|.	T|T	0.65080|0.65080	0.2657|0.2657	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;B;P;P;P|.	0.44734|.	0.842;0.288;0.756;0.604;0.604|.	B;B;B;B;B|.	0.42112|.	0.359;0.189;0.209;0.376;0.376|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|5	0.13470|.	T|.	0.59|.	.|.	11.1109|11.1109	0.48232|0.48232	0.1487:0.0:0.8513:0.0|0.1487:0.0:0.8513:0.0	.|.	317;2026;2065;2065;2065|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	N|T	2065;2026;2065;2065|318	ENSP00000365821:K2065N;ENSP00000365823:K2026N;ENSP00000353422:K2065N;ENSP00000349985:K2065N|.	ENSP00000349985:K2065N|.	K|R	+|+	3|2	2|0	VPS13A|VPS13A	79142090|79142090	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.390000|0.390000	0.30446|0.30446	4.667000|4.667000	0.61561|0.61561	1.262000|1.262000	0.44165|0.44165	0.650000|0.650000	0.86243|0.86243	AAG|AGA	VPS13A	-	NULL		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79952270	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79952270	G	C	79952270	3	2	58	1	0	0	0	0	1	0	0	0	17220	933	33	1	6381	1	VPS13A	9	79952270	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9462262	79952270	61261161	640	8390										
AGTPBP1	23287	genome.wustl.edu	37	chr9	88203305	88203305	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagtggggttattgctcatGagatattccaacgttccttt	10	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:88203305G>C	ENST00000357081.3	-	21	2955	c.2811C>G	c.(2809-2811)ctC>ctG	p.L937L	AGTPBP1_ENST00000376083.3_Silent_p.L897L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.L949L|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	937					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L897L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TATTGCTCATGAGATATTCCA	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											124	106	112					9																	88203305		2203	4300	6503	SO:0001819	synonymous_variant	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2811C>G	9.37:g.88203305G>C			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.L949	ENST00000357081.3	37	c.2847		9																																																																																			AGTPBP1	-	pfam_Peptidase_M14		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	G	NM_015239		88203305	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	silent	SNP	1.000	C	C	88203305	G	C	88203305	2	2	58	1	0	0	0	0	0	0	0	1	400	1277	45	1		1	AGTPBP1	9	88203305	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8251035	88203305	53010126	641	8391										
ASPN	54829	genome.wustl.edu	37	chr9	95219736	95219736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaagtcatttactcccactCttgcaattgaattagaatga	6	8	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95219736C>G	ENST00000375544.3	-	8	1220	c.977G>C	c.(976-978)aGa>aCa	p.R326T	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_3'UTR	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	326					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R326T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TACTCCCACTCTTGCAATTGA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											91	90	90					9																	95219736		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.977G>C	9.37:g.95219736C>G	ENSP00000364694:p.Arg326Thr		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R326T	ENST00000375544.3	37	c.977		9	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577756	0.28180	.	.	ENSG00000106819	ENST00000375544	T	0.04083	3.71	5.1	3.97	0.46021	.	0.380726	0.31922	N	0.006857	T	0.03053	0.0090	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48387	-0.9040	10	0.52906	T	0.07	.	10.39	0.44162	0.0:0.079:0.0:0.921	.	326	Q9BXN1	ASPN_HUMAN	T	326	ENSP00000364694:R326T	ENSP00000364694:R326T	R	-	2	0	ASPN	94259557	1.000000	0.71417	0.971000	0.41717	0.895000	0.52256	2.030000	0.41108	0.912000	0.36772	-0.389000	0.06534	AGA	ASPN	-	pirsf_SLRP_I_decor/aspor/byglycan		0.348	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	C	NM_017680		95219736	-1	no_errors	ENST00000375544	ensembl	human	known	70_37	missense	SNP	0.985	G	G	95219736	C	G	95219736	3	3	58	1	0	0	0	0	1	0	0	0	1058	913	32	1	169	1	ASPN	9	95219736	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7016431	95219736	45993695	642	8392										
BICD2	23299	genome.wustl.edu	37	chr9	95481579	95481579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtgccttgagctgctcgcGgagctcgccagcctcagcca	12	16	1	1	rs201997144		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95481579G>A	ENST00000375512.3	-	5	1415	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	BICD2_ENST00000356884.6_Missense_Mutation_p.R450C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	450					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.R450C(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGCTCGCGGAGCTCGCCA	0.642																																																	1	Substitution - Missense(1)	cervix(1)						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	75	81		1348,1348	4.2	1	9		81	0,8600		0,0,4300	yes	missense,missense	BICD2	NM_001003800.1,NM_015250.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	450/856,450/825	95481579	1,13005	2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1348C>T	9.37:g.95481579G>A	ENSP00000364662:p.Arg450Cys		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.R450C	ENST00000375512.3	37	c.1348	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418384	0.42918	2.27E-4	0.0	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.47177	0.85;0.85	5.2	4.24	0.50183	.	0.107024	0.64402	D	0.000008	T	0.54775	0.1879	L	0.40543	1.245	0.43598	D	0.995952	D;D	0.76494	0.999;0.999	P;D	0.65323	0.891;0.934	T	0.56414	-0.7983	10	0.87932	D	0	-36.363	10.5357	0.45002	0.0:0.0:0.6948:0.3052	.	450;450	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	450	ENSP00000349351:R450C;ENSP00000364662:R450C	ENSP00000349351:R450C	R	-	1	0	BICD2	94521400	0.999000	0.42202	0.970000	0.41538	0.074000	0.17049	3.784000	0.55416	2.605000	0.88082	0.561000	0.74099	CGC	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	G	NM_015250		95481579	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95481579	G	A	95481579	3	1	58	1	0	0	0	0	1	0	0	0	1430	1116	39	2	1241	2	BICD2	9	95481579	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	261843	95481579	45731852	643	8393										
BICD2	23299	genome.wustl.edu	37	chr9	95484983	95484983	+	Silent	SNP	C	C	T													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcttctgcaggctgatgttCtcctcctccagttccgagta							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95484983C>T	ENST00000375512.3	-	3	628	c.561G>A	c.(559-561)gaG>gaA	p.E187E	BICD2_ENST00000356884.6_Silent_p.E187E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	187					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.E187E(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTGATGTTCTCCTCCTCCA	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											141	119	126					9																	95484983		2203	4300	6503	SO:0001819	synonymous_variant	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.561G>A	9.37:g.95484983C>T			O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E187	ENST00000375512.3	37	c.561	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95484983	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95484983	C	T	95484983	2	4	58	1	0	0	0	0	0	0	0	1	1430	912	32	1		1	BICD2	9	95484983	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3404	95484983	45728448	644	8394	43	2								
BICD2	23299	genome.wustl.edu	37	chr9	95484988	95484988	+	Missense_Mutation	SNP	C	C	T													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcaggctgatgttctcctCctccagttccgagtagtcct							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95484988C>T	ENST00000375512.3	-	3	623	c.556G>A	c.(556-558)Gag>Aag	p.E186K	BICD2_ENST00000356884.6_Missense_Mutation_p.E186K	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	186					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.E186K(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGTTCTCCTCCTCCAGTTCC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											136	115	122					9																	95484988		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.556G>A	9.37:g.95484988C>T	ENSP00000364662:p.Glu186Lys		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E186K	ENST00000375512.3	37	c.556	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.713521	0.96830	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.64991	-0.13;-0.13	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.83774	2.66	0.80722	D	1	D;D	0.58268	0.978;0.982	P;P	0.60236	0.796;0.871	T	0.77819	-0.2446	10	0.34782	T	0.22	-26.8251	15.4221	0.75022	0.0:1.0:0.0:0.0	.	186;186	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	K	186	ENSP00000349351:E186K;ENSP00000364662:E186K	ENSP00000349351:E186K	E	-	1	0	BICD2	94524809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.714000	0.84703	2.319000	0.78375	0.561000	0.74099	GAG	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95484988	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95484988	C	T	95484988	3	4	58	1	0	0	0	0	1	0	0	0	1430	864	30	1	2041	1	BICD2	9	95484988	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5	95484988	45728443	645	8395	43	2								
ZNF484	83744	genome.wustl.edu	37	chr9	95610231	95610231	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcctcacattcatggcattCatgctgcttttcttcagcac	6	13	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95610231C>A	ENST00000375495.3	-	5	986	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	ZNF484_ENST00000395506.3_Nonsense_Mutation_p.E282*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.E244*|ZNF484_ENST00000395505.2_Nonsense_Mutation_p.E244*	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428																																																	1	Substitution - Nonsense(1)	cervix(1)											96	91	93					9																	95610231		2203	4300	6503	SO:0001587	stop_gained	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.838G>T	9.37:g.95610231C>A	ENSP00000364645:p.Glu280*		B1AL89|B4DRI2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E282*	ENST00000375495.3	37	c.844	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	11.12	1.544252	0.27563	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	.	.	.	2.47	0.561	0.17285	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.8506	0.08953	0.0:0.5985:0.2514:0.1501	.	.	.	.	X	244;282;280;244	.	ENSP00000364646:E244X	E	-	1	0	ZNF484	94650052	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-3.227000	0.00549	0.133000	0.18654	-0.272000	0.10252	GAA	ZNF484	-	NULL		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95610231	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	95610231	C	A	95610231	4	1	58	1	0	0	0	0	0	1	0	0	17967	835	29	3	1724	3	ZNF484	9	95610231	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	125243	95610231	45603200	646	8396										
C9orf3	84909	genome.wustl.edu	37	chr9	97741653	97741653	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgttttatttctaaaggcttGagctgtctgttgaaaacatc	8	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:97741653G>C	ENST00000375315.2	+	10	1921	c.1921G>C	c.(1921-1923)Gag>Cag	p.E641Q	C9orf3_ENST00000297979.5_Missense_Mutation_p.E542Q	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	641					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E641Q(1)|p.E542Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CTAAAGGCTTGAGCTGTCTGT	0.393																																																	2	Substitution - Missense(2)	cervix(2)											122	109	113					9																	97741653		2202	4299	6501	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1921G>C	9.37:g.97741653G>C	ENSP00000364464:p.Glu641Gln		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.E641Q	ENST00000375315.2	37	c.1921	CCDS55328.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.789732|2.789732	0.50102|0.50102	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316|ENST00000451893	T;T;T;T|.	0.04970|.	3.52;3.52;3.52;3.52|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.529421|.	0.18387|.	N|.	0.142772|.	T|.	0.60183|.	0.2249|.	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999999|0.999999	D;B;B;B|.	0.63880|.	0.993;0.066;0.437;0.041|.	P;B;B;B|.	0.56865|.	0.808;0.078;0.175;0.024|.	T|.	0.55848|.	-0.8076|.	10|.	0.13108|.	T|.	0.6|.	-0.1356|-0.1356	13.9232|13.9232	0.63945|0.63945	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	60;641;542;542|.	E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;AMPO_HUMAN;.;.|.	Q|S	542;641;365;423;60|40	ENSP00000297979:E542Q;ENSP00000364464:E641Q;ENSP00000402171:E365Q;ENSP00000401854:E423Q|.	ENSP00000297979:E542Q|.	E|X	+|+	1|2	0|2	C9orf3|C9orf3	96781474|96781474	0.294000|0.294000	0.24380|0.24380	0.007000|0.007000	0.13788|0.13788	0.810000|0.810000	0.45777|0.45777	4.971000|4.971000	0.63749|0.63749	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAG|TGA	C9orf3	-	NULL		0.393	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97741653	1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	0.010	C	C	97741653	G	C	97741653	3	2	58	1	0	0	0	0	1	0	0	0	2482	1291	45	1	1654	1	C9orf3	9	97741653	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2131422	97741653	43471778	647	8397										
PTCH1	5727	genome.wustl.edu	37	chr9	98242341	98242341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctggataagccatgacatCcaccattcaaaacaagggcc	7	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:98242341C>G	ENST00000331920.6	-	7	1276	c.977G>C	c.(976-978)gGa>gCa	p.G326A	PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000421141.1_Missense_Mutation_p.G175A|PTCH1_ENST00000375274.2_Missense_Mutation_p.G325A|PTCH1_ENST00000429896.2_Missense_Mutation_p.G175A|PTCH1_ENST00000418258.1_Missense_Mutation_p.G175A|PTCH1_ENST00000437951.1_Missense_Mutation_p.G260A|PTCH1_ENST00000430669.2_Missense_Mutation_p.G260A	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	326					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.G326A(2)|p.G325A(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCATGACATCCACCATTCAA	0.443																																																	4	Substitution - Missense(4)	cervix(4)											155	143	147					9																	98242341		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.977G>C	9.37:g.98242341C>G	ENSP00000332353:p.Gly326Ala		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.G326A	ENST00000331920.6	37	c.977	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.218163	0.95104	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271;ENST00000548420	D;D;D;D;D;D;D;D;D	0.99032	-4.62;-4.55;-4.61;-4.61;-4.55;-4.61;-4.7;-5.35;-2.8	5.97	5.97	0.96955	.	0.046101	0.85682	D	0.000000	D	0.99438	0.9801	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99023	1.0818	10	0.66056	D	0.02	-16.8922	20.4388	0.99107	0.0:1.0:0.0:0.0	.	175;260;325;326	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	A	326;260;175;175;260;175;325;43;46	ENSP00000332353:G326A;ENSP00000389744:G260A;ENSP00000399981:G175A;ENSP00000396135:G175A;ENSP00000410287:G260A;ENSP00000414823:G175A;ENSP00000364423:G325A;ENSP00000364420:G43A;ENSP00000449078:G46A	ENSP00000332353:G326A	G	-	2	0	PTCH1	97282162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GGA	PTCH1	-	tigrfam_TM_rcpt_patched		0.443	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	C	NM_000264		98242341	-1	no_errors	ENST00000331920	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98242341	C	G	98242341	3	3	58	1	0	0	0	0	1	0	0	0	12757	855	30	1	3434	1	PTCH1	9	98242341	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	500688	98242341	42971090	648	8398										
HABP4	22927	genome.wustl.edu	37	chr9	99250527	99250527	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggggaaggatcaggagggcaGagaactatggacccagagca	17	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:99250527G>C	ENST00000375249.4	+	7	1231	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	HABP4_ENST00000375251.3_Missense_Mutation_p.E281Q|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.E386Q(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CAGGAGGGCAGAGAACTATGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											135	137	136					9																	99250527		2203	4300	6503	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1156G>C	9.37:g.99250527G>C	ENSP00000364398:p.Glu386Gln			Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.E386Q	ENST00000375249.4	37	c.1156	CCDS6719.1	9	.	.	.	.	.	.	.	.	.	.	g	14.12	2.441641	0.43326	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.43294	0.95;0.95	5.02	4.12	0.48240	.	0.274240	0.40385	N	0.001105	T	0.52500	0.1738	L	0.43152	1.355	0.34341	D	0.688795	D;D	0.89917	1.0;1.0	D;D	0.74023	0.977;0.982	T	0.59348	-0.7471	10	0.20046	T	0.44	-19.4177	13.7919	0.63146	0.0:0.0:0.8464:0.1536	.	281;386	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	Q	281;386	ENSP00000364400:E281Q;ENSP00000364398:E386Q	ENSP00000364398:E386Q	E	+	1	0	HABP4	98290348	1.000000	0.71417	0.933000	0.37362	0.138000	0.21146	5.636000	0.67848	1.488000	0.48433	-0.121000	0.15023	GAG	HABP4	-	NULL		0.562	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	G	NM_014282		99250527	1	no_errors	ENST00000375249	ensembl	human	known	70_37	missense	SNP	0.965	C	C	99250527	G	C	99250527	3	2	58	1	0	0	0	0	1	0	0	0	6959	943	33	1	1182	1	HABP4	9	99250527	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1008186	99250527	41962904	649	8399										
OR13C2	392376	genome.wustl.edu	37	chr9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttcagaaaaaattccaccaGaatggtgtggttttcccatt	7	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											47	52	50					9																	107367884		2195	4299	6494	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.25C>G	9.37:g.107367884G>C	ENSP00000438815:p.Leu9Val		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L9V	ENST00000542196.1	37	c.25	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111042	0.00353	.	.	ENSG00000257019	ENST00000542196	T	0.00299	8.22	3.39	-1.19	0.09585	.	0.313759	0.16689	U	0.203629	T	0.00039	0.0001	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	0.7009	0.00908	0.3362:0.1654:0.331:0.1674	.	9	Q8NGS9	O13C2_HUMAN	V	9	ENSP00000438815:L9V	ENSP00000438815:L9V	L	-	1	2	OR13C2	106407705	0.000000	0.05858	0.093000	0.20910	0.892000	0.51952	-2.895000	0.00707	-0.123000	0.11745	-0.379000	0.06801	CTG	OR13C2	-	NULL		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107367884	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	missense	SNP	0.000	C	C	107367884	G	C	107367884	3	2	58	1	0	0	0	0	1	0	0	0	10958	933	33	1	934	1	OR13C2	9	107367884	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8117357	107367884	33845547	650	8400										
SLC44A1	23446	genome.wustl.edu	37	chr9	108061569	108061569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ataccatggctgctgctcttCatcctcttctgcattgggat	8	12	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:108061569C>T	ENST00000374720.3	+	2	352	c.105C>T	c.(103-105)ttC>ttT	p.F35F	SLC44A1_ENST00000374724.1_Silent_p.F35F|SLC44A1_ENST00000374723.1_Silent_p.F35F|SLC44A1_ENST00000607692.1_3'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	35					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.F35F(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTGCTCTTCATCCTCTTCT	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											150	118	129					9																	108061569		2203	4300	6503	SO:0001819	synonymous_variant	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.105C>T	9.37:g.108061569C>T			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	pfam_Choline_transptr-like	p.F35	ENST00000374720.3	37	c.105	CCDS6763.1	9																																																																																			SLC44A1	-	NULL		0.458	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	C	NM_080546		108061569	1	no_errors	ENST00000374720	ensembl	human	known	70_37	silent	SNP	0.976	T	T	108061569	C	T	108061569	2	4	58	1	0	0	0	0	0	0	0	1	14665	825	29	1		1	SLC44A1	9	108061569	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	693685	108061569	33151862	651	8401										
IKBKAP	8518	genome.wustl.edu	37	chr9	111641013	111641013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcttccgctccgcttttcggCgattcttggatgatctcctg	9	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:111641013C>T	ENST00000374647.5	-	34	3897	c.3590G>A	c.(3589-3591)cGc>cAc	p.R1197H	IKBKAP_ENST00000537196.1_Missense_Mutation_p.R848H|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1197					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.R1197H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTTTTCGGCGATTCTTGGA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											160	158	158					9																	111641013		2203	4300	6503	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3590G>A	9.37:g.111641013C>T	ENSP00000363779:p.Arg1197His		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.R1197H	ENST00000374647.5	37	c.3590	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799624	0.90538	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.42900	1.39;0.96	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	M	0.88105	2.93	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.75551	-0.3278	10	0.87932	D	0	-13.8613	12.9833	0.58577	0.0:0.9218:0.0:0.0782	.	1197	O95163	ELP1_HUMAN	H	1197;848	ENSP00000363779:R1197H;ENSP00000439367:R848H	ENSP00000363779:R1197H	R	-	2	0	IKBKAP	110680834	1.000000	0.71417	0.944000	0.38274	0.981000	0.71138	6.594000	0.74104	1.484000	0.48361	0.655000	0.94253	CGC	IKBKAP	-	pirsf_IKI3		0.507	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	C			111641013	-1	no_errors	ENST00000374647	ensembl	human	known	70_37	missense	SNP	0.996	T	T	111641013	C	T	111641013	3	4	58	1	0	0	0	0	1	0	0	0	7630	768	27	2	424	2	IKBKAP	9	111641013	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3579444	111641013	29572418	652	8402										
IKBKAP	8518	genome.wustl.edu	37	chr9	111668766	111668766	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cattattctcaaactggattCtattgtaaatattgaagaat	5	5	2	2	rs539544212		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:111668766C>T	ENST00000374647.5	-	14	1768		c.e14-1		IKBKAP_ENST00000537196.1_Splice_Site	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein						chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.?(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACTGGATTCTATTGTAAAT	0.388													C|||	1	0.000199681	0	0	5008	,	,		19958	0		0	False		,,,				2504	0.001																1	Unknown(1)	cervix(1)											78	76	77					9																	111668766		2203	4300	6503	SO:0001630	splice_region_variant	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1461-1G>A	9.37:g.111668766C>T			Q5JSV2|Q9H327|Q9UG87	Splice_Site	SNP	-	e13-1	ENST00000374647.5	37	c.1461-1	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346211	0.61073	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4873	0.75575	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IKBKAP	110708587	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.998000	0.63927	2.813000	0.96785	0.637000	0.83480	.	IKBKAP	-	-		0.388	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	C		Intron	111668766	-1	no_errors	ENST00000374647	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	111668766	C	T	111668766	5	4	58	1	0	0	0	0	0	0	1	0	7630	927	32	1	2634	1	IKBKAP	9	111668766	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	27753	111668766	29544665	653	8403										
SVEP1	79987	genome.wustl.edu	37	chr9	113170526	113170526	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ataggcaaggccttgcacatCaatgattccattggggattt	10	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:113170526C>G	ENST00000401783.2	-	38	7690	c.7354G>C	c.(7354-7356)Gat>Cat	p.D2452H	SVEP1_ENST00000297826.5_Missense_Mutation_p.D378H|SVEP1_ENST00000374469.1_Missense_Mutation_p.D2429H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2452	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.D2455H(1)|p.D2455N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTGCACATCAATGATTCCA	0.502																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											62	60	61					9																	113170526		1934	4140	6074	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7354G>C	9.37:g.113170526C>G	ENSP00000384917:p.Asp2452His		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D2452H	ENST00000401783.2	37	c.7354	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857620	0.17178	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.64618	-0.11;-0.11;-0.11	5.85	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.043776	0.85682	N	0.000000	T	0.54240	0.1846	L	0.35487	1.065	0.80722	D	1	B	0.30281	0.275	B	0.33196	0.159	T	0.50499	-0.8821	10	0.30854	T	0.27	.	16.6234	0.84935	0.0:0.8656:0.1344:0.0	.	2452	Q4LDE5	SVEP1_HUMAN	H	2452;2429;378;124	ENSP00000384917:D2452H;ENSP00000363593:D2429H;ENSP00000297826:D378H	ENSP00000297826:D378H	D	-	1	0	SVEP1	112210347	1.000000	0.71417	0.677000	0.29947	0.302000	0.27658	5.949000	0.70257	1.436000	0.47453	0.655000	0.94253	GAT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113170526	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113170526	C	G	113170526	3	3	58	1	0	0	0	0	1	0	0	0	15450	826	29	1	3405	1	SVEP1	9	113170526	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1501760	113170526	28042905	654	8404										
SVEP1	79987	genome.wustl.edu	37	chr9	113261352	113261352	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgcctgaactccgacattCcattttccagaagtggtaca	8	12	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:113261352C>T	ENST00000401783.2	-	7	1986	c.1650G>A	c.(1648-1650)tgG>tgA	p.W550*	SVEP1_ENST00000302728.8_Nonsense_Mutation_p.W550*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.W527*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W527*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	550	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.W550*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCGACATTCCATTTTCCAG	0.423																																																	1	Substitution - Nonsense(1)	cervix(1)											59	56	57					9																	113261352		1936	4153	6089	SO:0001587	stop_gained	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1650G>A	9.37:g.113261352C>T	ENSP00000384917:p.Trp550*		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.W550*	ENST00000401783.2	37	c.1650	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.347333	0.99143	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5816	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	550;527;550;527	.	ENSP00000304118:W550X	W	-	3	0	SVEP1	112301173	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.599000	0.67592	2.696000	0.92011	0.655000	0.94253	TGG	SVEP1	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113261352	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	113261352	C	T	113261352	4	4	58	1	0	0	0	0	0	1	0	0	15450	856	30	1	9233	1	SVEP1	9	113261352	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	90826	113261352	27952079	655	8405										
KIAA0368	23392	genome.wustl.edu	37	chr9	114172371	114172371	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttagtaagctttctacaaGatgcaatttggtaaagccag	8	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:114172371G>A	ENST00000338205.5	-	22	2719	c.2500C>T	c.(2500-2502)Ctt>Ttt	p.L834F	KIAA0368_ENST00000374378.3_5'Flank|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000259335.4_Missense_Mutation_p.L1012F			Q5VYK3	ECM29_HUMAN	KIAA0368	840					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1012F(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTTTCTACAAGATGCAATTTG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											38	37	38					9																	114172371		1838	4090	5928	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2500C>T	9.37:g.114172371G>A	ENSP00000339889:p.Leu834Phe		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1012F	ENST00000338205.5	37	c.3034		9	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806332	0.50421	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.69435	-0.4	6.16	6.16	0.99307	.	0.137255	0.49916	D	0.000129	T	0.67924	0.2945	M	0.64997	1.995	0.80722	D	1	B	0.24368	0.102	B	0.22601	0.04	T	0.61332	-0.7084	10	0.39692	T	0.17	-15.8929	20.8598	0.99761	0.0:0.0:1.0:0.0	.	309	B3KXF2	.	F	834;1012;309	ENSP00000259335:L1012F	ENSP00000259335:L1012F	L	-	1	0	KIAA0368	113212192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.974000	0.56852	2.937000	0.99478	0.650000	0.86243	CTT	KIAA0368	-	superfamily_ARM-type_fold		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	G	NM_014686		114172371	-1	no_errors	ENST00000259335	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114172371	G	A	114172371	3	1	58	1	0	0	0	0	1	0	0	0	8191	942	33	1	3131	1	KIAA0368	9	114172371	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	911019	114172371	27041060	656	8406										
RGS3	5998	genome.wustl.edu	37	chr9	116346022	116346022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctccagcccaagacctctCaccctgccaggacctacctg	6	21	1	1	rs371735508		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:116346022C>T	ENST00000374140.2	+	21	2539	c.2330C>T	c.(2329-2331)tCa>tTa	p.S777L	RGS3_ENST00000374134.3_Missense_Mutation_p.S98L|RGS3_ENST00000350696.5_Missense_Mutation_p.S777L|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.S496L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.S98L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	777	Pro-rich.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S777L(1)|p.S673L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAAGACCTCTCACCCTGCCAG	0.622																																																	2	Substitution - Missense(2)	cervix(2)						C	,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	116	119	118		,2330,1487,293	1.1	0	9		118	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	RGS3	NM_134427.1,NM_144488.4,NM_130795.2,NM_021106.3	,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign	,777/1199,496/918,98/520	116346022	1,13005	2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2330C>T	9.37:g.116346022C>T	ENSP00000363255:p.Ser777Leu		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S777L	ENST00000374140.2	37	c.2330	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048336	0.36181	0.0	1.16E-4	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134	T;T;T;T;T	0.57107	0.92;0.92;0.42;0.42;0.42	4.97	1.06	0.20224	.	0.989764	0.08211	N	0.980704	T	0.35158	0.0922	N	0.19112	0.55	0.09310	N	0.999995	B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.0;0.001	B;B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.001;0.001	T	0.30534	-0.9975	10	0.72032	D	0.01	.	4.9821	0.14170	0.1482:0.6053:0.0:0.2465	.	116;673;98;496;667;777	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	L	777;777;496;98;98;98	ENSP00000363255:S777L;ENSP00000259406:S777L;ENSP00000340284:S496L;ENSP00000420356:S98L;ENSP00000363249:S98L	ENSP00000340284:S496L	S	+	2	0	RGS3	115385843	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	0.453000	0.21811	0.094000	0.17404	0.655000	0.94253	TCA	RGS3	-	NULL		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	C	NM_017790		116346022	1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	0.003	T	T	116346022	C	T	116346022	3	4	58	1	0	0	0	0	1	0	0	0	13336	838	29	1	2661	1	RGS3	9	116346022	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2173651	116346022	24867409	657	8407										
AKNA	80709	genome.wustl.edu	37	chr9	117104310	117104310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaggtggctgagcctggacCatctgcctctgggggagacc	16	11	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:117104310C>T	ENST00000307564.4	-	20	4014	c.3853G>A	c.(3853-3855)Ggt>Agt	p.G1285S	AKNA_ENST00000374075.5_Missense_Mutation_p.G1204S|AKNA_ENST00000223791.3_Missense_Mutation_p.G745S|AKNA_ENST00000374079.4_Missense_Mutation_p.G230S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.G1285S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1285					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G1285S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAGCCTGGACCATCTGCCTCT	0.567																																																	1	Substitution - Missense(1)	cervix(1)											85	82	83					9																	117104310		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3853G>A	9.37:g.117104310C>T	ENSP00000303769:p.Gly1285Ser		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.G1285S	ENST00000307564.4	37	c.3853	CCDS6805.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.46|11.46	1.645534|1.645534	0.29246|0.29246	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.19532|.	2.67;2.14;2.67;2.45;2.66|.	4.95|4.95	-1.09|-1.09	0.09904|0.09904	.|.	0.779422|.	0.11613|.	N|.	0.546503|.	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.14805|.	0.006;0.011|.	B;B|.	0.17722|.	0.008;0.019|.	T|T	0.38394|0.38394	-0.9663|-0.9663	10|6	0.28530|0.49607	T|T	0.3|0.09	-3.529|-3.529	4.3522|4.3522	0.11160|0.11160	0.0:0.3529:0.1736:0.4735|0.0:0.3529:0.1736:0.4735	.|.	1285;1204|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	S|I	1285;230;1285;745;1204|295	ENSP00000303769:G1285S;ENSP00000363192:G230S;ENSP00000363201:G1285S;ENSP00000223791:G745S;ENSP00000363188:G1204S|.	ENSP00000223791:G745S|ENSP00000314538:M295I	G|M	-|-	1|3	0|0	AKNA|AKNA	116144131|116144131	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.775000|-0.775000	0.04679|0.04679	-0.016000|-0.016000	0.14127|0.14127	0.563000|0.563000	0.77884|0.77884	GGT|ATG	AKNA	-	NULL		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117104310	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.000	T	T	117104310	C	T	117104310	3	4	58	1	0	0	0	0	1	0	0	0	463	594	21	4	478	4	AKNA	9	117104310	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	758288	117104310	24109121	658	8408										
FBXW2	26190	genome.wustl.edu	37	chr9	123533705	123533705	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatgtatttgccatcaaaatGaagtcttggctgcaggcaga	10	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:123533705G>A	ENST00000608872.1	-	7	1184	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	FBXW2_ENST00000340778.5_Missense_Mutation_p.H268Y|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	333					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.H333Y(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CCATCAAAATGAAGTCTTGGC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											100	90	93					9																	123533705		1885	4121	6006	SO:0001583	missense	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.997C>T	9.37:g.123533705G>A	ENSP00000476369:p.His333Tyr		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H333Y	ENST00000608872.1	37	c.997	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635683	0.87760	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.55052	2.17;2.17;0.54	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.097337	0.64402	D	0.000001	T	0.38719	0.1051	N	0.22421	0.69	0.58432	D	0.999997	B;P;B	0.39282	0.378;0.666;0.261	B;B;B	0.32465	0.146;0.14;0.069	T	0.29212	-1.0019	10	0.39692	T	0.17	-6.7485	17.491	0.87703	0.0:0.0:1.0:0.0	.	268;333;333	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	Y	333;268;333;204	ENSP00000363036:H333Y;ENSP00000341161:H268Y;ENSP00000398662:H204Y	ENSP00000341161:H268Y	H	-	1	0	FBXW2	122573526	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CAT	FBXW2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.413	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	G			123533705	-1	no_errors	ENST00000373926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123533705	G	A	123533705	3	1	58	1	0	0	0	0	1	0	0	0	5784	1290	45	1	375	1	FBXW2	9	123533705	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6429395	123533705	17679726	659	8409										
CRB2	286204	genome.wustl.edu	37	chr9	126125380	126125380	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgcgagctggacatcgatGagtgtgcatcccggccgtgc	15	12	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:126125380G>C	ENST00000373631.3	+	2	332	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	CRB2_ENST00000359999.3_Missense_Mutation_p.E111Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	111	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.E111Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACATCGATGAGTGTGCATC	0.672																																																	1	Substitution - Missense(1)	cervix(1)											38	34	35					9																	126125380		2202	4299	6501	SO:0001583	missense	286204			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.331G>C	9.37:g.126125380G>C	ENSP00000362734:p.Glu111Gln		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E111Q	ENST00000373631.3	37	c.331	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	G	34	5.409412	0.96072	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.93547	-3.24;-3.24	4.98	4.98	0.66077	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.43579	D	0.000545	D	0.96414	0.8830	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96644	0.9476	10	0.66056	D	0.02	.	17.1717	0.86832	0.0:0.0:1.0:0.0	.	111;111	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Q	111	ENSP00000353092:E111Q;ENSP00000362734:E111Q	ENSP00000353092:E111Q	E	+	1	0	CRB2	125165201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.418000	0.97395	2.602000	0.87976	0.549000	0.68633	GAG	CRB2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.672	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	G	NM_173689		126125380	1	no_errors	ENST00000373631	ensembl	human	known	70_37	missense	SNP	1.000	C	C	126125380	G	C	126125380	3	2	58	1	0	0	0	0	1	0	0	0	3854	1291	45	1	337	1	CRB2	9	126125380	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2591675	126125380	15088051	660	8410										
ENG	2022	genome.wustl.edu	37	chr9	130605495	130605495	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctctcggggcccacaggctGaaggtcacaatggactgttt	12	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:130605495G>A	ENST00000373203.4	-	2	497	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	ENG_ENST00000344849.3_Nonsense_Mutation_p.Q33*|RNA5SP296_ENST00000410523.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	33	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.Q33*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCCACAGGCTGAAGGTCACAA	0.542									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																								1	Substitution - Nonsense(1)	cervix(1)	GRCh37	CM060981	ENG	M							91	94	93					9																	130605495		2203	4300	6503	SO:0001587	stop_gained	2022	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.97C>T	9.37:g.130605495G>A	ENSP00000362299:p.Gln33*		Q14248|Q14926|Q5T9C0	Nonsense_Mutation	SNP	pfam_ZP_dom	p.Q33*	ENST00000373203.4	37	c.97	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	g	38	7.178159	0.98118	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	.	.	.	5.12	3.09	0.35607	.	0.261790	0.27109	N	0.020883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-15.301	12.6088	0.56540	0.0:0.3397:0.6603:0.0	.	.	.	.	X	33	.	ENSP00000341917:Q33X	Q	-	1	0	ENG	129645316	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	1.928000	0.40104	1.112000	0.41740	0.561000	0.74099	CAG	ENG	-	NULL		0.542	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	G			130605495	-1	no_errors	ENST00000373203	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	130605495	G	A	130605495	4	1	58	1	0	0	0	0	0	1	0	0	5129	1299	45	1	1961	1	ENG	9	130605495	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4480115	130605495	10607936	661	8411										
FAM102A	399665	genome.wustl.edu	37	chr9	130742405	130742405	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgaatttcttcttcttcatCaagaaagccatgagcgagtt	7	8	5	3	rs532794999		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:130742405C>G	ENST00000373095.1	-	1	387	c.12G>C	c.(10-12)ttG>ttC	p.L4F		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	4								p.L4F(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCTTCTTCATCAAGAAAGCCA	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		17320	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											95	109	104					9																	130742405		2203	4300	6503	SO:0001583	missense	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.12G>C	9.37:g.130742405C>G	ENSP00000362187:p.Leu4Phe		A2A329|Q8TEL4	Missense_Mutation	SNP	pfam_NT-C2	p.L4F	ENST00000373095.1	37	c.12	CCDS35150.1	9	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914360	0.72983	.	.	ENSG00000167106	ENST00000373095	.	.	.	4.87	3.01	0.34805	.	0.242222	0.36002	N	0.002854	T	0.62624	0.2443	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.56902	-0.7902	9	0.33141	T	0.24	-11.5546	8.7175	0.34421	0.1503:0.7702:0.0:0.0795	.	4	Q5T9C2	F102A_HUMAN	F	4	.	ENSP00000362187:L4F	L	-	3	2	FAM102A	129782226	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	1.481000	0.35476	0.462000	0.27095	0.462000	0.41574	TTG	FAM102A	-	NULL		0.532	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	C			130742405	-1	no_errors	ENST00000373095	ensembl	human	known	70_37	missense	SNP	1.000	G	G	130742405	C	G	130742405	3	3	58	1	0	0	0	0	1	0	0	0	5397	825	29	1	1186	1	FAM102A	9	130742405	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	136910	130742405	10471026	662	8412										
CIZ1	25792	genome.wustl.edu	37	chr9	130947884	130947884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtttctgggggttccgtcctGaaaggttgaactgggaaggg	17	6	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:130947884G>A	ENST00000393608.1	-	5	732	c.530C>T	c.(529-531)tCa>tTa	p.S177L	CIZ1_ENST00000538431.1_Missense_Mutation_p.S177L|CIZ1_ENST00000372938.5_Missense_Mutation_p.S177L|CIZ1_ENST00000325721.8_Missense_Mutation_p.S153L|CIZ1_ENST00000357558.5_Missense_Mutation_p.S177L|CIZ1_ENST00000372948.3_Missense_Mutation_p.S177L|CIZ1_ENST00000372954.1_Missense_Mutation_p.S153L|CIZ1_ENST00000541172.1_Missense_Mutation_p.S76L|CIZ1_ENST00000277465.4_Missense_Mutation_p.S177L|CIZ1_ENST00000476727.2_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	177					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S177L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTTCCGTCCTGAAAGGTTGAA	0.602																																																	1	Substitution - Missense(1)	cervix(1)											71	72	72					9																	130947884		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.530C>T	9.37:g.130947884G>A	ENSP00000377232:p.Ser177Leu		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.S177L	ENST00000393608.1	37	c.530	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498365	0.85069	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544	T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.44	4.54	0.55810	.	0.953957	0.08622	N	0.918282	T	0.76751	0.4031	L	0.29908	0.895	0.26014	N	0.981958	P;P;P;P;P;D;P;P	0.65815	0.728;0.917;0.952;0.95;0.95;0.995;0.822;0.917	B;B;P;P;P;P;B;B	0.59115	0.196;0.367;0.668;0.57;0.57;0.852;0.242;0.367	T	0.64753	-0.6333	10	0.48119	T	0.1	-5.698	11.1966	0.48717	0.0846:0.0:0.9154:0.0	.	177;177;177;177;153;177;153;177	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	L	153;177;177;177;153;144;76;177;153;177;177;104;177	ENSP00000362045:S153L;ENSP00000377232:S177L;ENSP00000439244:S177L;ENSP00000350169:S177L;ENSP00000320374:S153L;ENSP00000445057:S76L;ENSP00000277465:S177L;ENSP00000362039:S177L;ENSP00000362029:S177L;ENSP00000398011:S104L;ENSP00000321780:S177L	ENSP00000277465:S177L	S	-	2	0	CIZ1	129987705	1.000000	0.71417	0.866000	0.34008	0.852000	0.48524	5.234000	0.65343	1.522000	0.49001	0.655000	0.94253	TCA	CIZ1	-	NULL		0.602	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	G	NM_012127		130947884	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.740	A	A	130947884	G	A	130947884	3	1	58	1	0	0	0	0	1	0	0	0	3446	1294	45	1	2218	1	CIZ1	9	130947884	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	205479	130947884	10265547	663	8413										
ODF2	4957	genome.wustl.edu	37	chr9	131262372	131262372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgccgctaccagagccggctGcaagacctgaaagatcgcct	11	15	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:131262372G>T	ENST00000434106.3	+	21	2691	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L	ODF2_ENST00000351030.3_Silent_p.L771L|ODF2_ENST00000444119.2_Silent_p.L752L|ODF2_ENST00000604420.1_Silent_p.L776L|ODF2_ENST00000372807.5_Silent_p.L771L|ODF2_ENST00000393527.3_Silent_p.L752L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	776					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L776L(1)|p.L752L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGCCGGCTGCAAGACCTGA	0.547																																																	2	Substitution - coding silent(2)	cervix(2)											125	110	115					9																	131262372		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2328G>T	9.37:g.131262372G>T			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	NULL	p.L776	ENST00000434106.3	37	c.2328	CCDS56588.1	9																																																																																			ODF2	-	NULL		0.547	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131262372	1	no_errors	ENST00000372796	ensembl	human	known	70_37	silent	SNP	0.943	T	T	131262372	G	T	131262372	2	4	58	1	0	0	0	0	0	0	0	1	10851	1306	46	4		4	ODF2	9	131262372	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	314488	131262372	9951059	664	8414										
QRFP	347148	genome.wustl.edu	37	chr9	133769049	133769049	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctgtggctgtgaagctctCagccaccgagaggaacccca	12	14	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:133769049C>A	ENST00000343079.1	-	1	176	c.177G>T	c.(175-177)ctG>ctT	p.L59L		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide									p.L59L(1)		cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GTGAAGCTCTCAGCCACCGAG	0.672																																																	1	Substitution - coding silent(1)	cervix(1)											32	34	33					9																	133769049		2203	4299	6502	SO:0001819	synonymous_variant	347148			AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"Endogenous ligands"	29982	protein-coding gene	gene with protein product	"prepro-QRFP"	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.177G>T	9.37:g.133769049C>A				Silent	SNP	pfam_P518	p.L59	ENST00000343079.1	37	c.177	CCDS6936.1	9																																																																																			QRFP	-	pfam_P518		0.672	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	QRFP	HGNC	protein_coding	OTTHUMT00000254566.1	C	NM_198180		133769049	-1	no_errors	ENST00000343079	ensembl	human	known	70_37	silent	SNP	0.000	A	A	133769049	C	A	133769049	2	1	58	1	0	0	0	0	0	0	0	1	12907	813	29	3		3	QRFP	9	133769049	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2506677	133769049	7444382	665	8415										
BAT2L1	84726	genome.wustl.edu	37	chr9	134343102	134343102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaagtatcagaagtcccttCctccccgattccagcgccag	7	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:134343102C>A	ENST00000357304.4	+	12	1928	c.1873C>A	c.(1873-1875)Cct>Act	p.P625T	PRRC2B_ENST00000458550.1_Missense_Mutation_p.P625T|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P625T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	625	Gln-rich.						poly(A) RNA binding (GO:0044822)	p.P625T(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGTCCCTTCCTCCCCGATT	0.552																																																	2	Substitution - Missense(2)	cervix(2)											51	58	56					9																	134343102		2060	4214	6274	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1873C>A	9.37:g.134343102C>A	ENSP00000349856:p.Pro625Thr		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.P625T	ENST00000357304.4	37	c.1873	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641697	0.87859	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.36	5.36	0.76844	.	0.000000	0.41605	U	0.000859	T	0.45776	0.1359	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44221	-0.9342	10	0.87932	D	0	-33.404	18.0281	0.89275	0.0:1.0:0.0:0.0	.	625	Q5JSZ5	PRC2B_HUMAN	T	625;625;625;165	ENSP00000384606:P625T;ENSP00000349856:P625T;ENSP00000398853:P625T;ENSP00000391063:P165T	ENSP00000349856:P625T	P	+	1	0	PRRC2B	133332923	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	6.281000	0.72632	2.671000	0.90904	0.655000	0.94253	CCT	PRRC2B	-	NULL		0.552	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		C			134343102	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134343102	C	A	134343102	3	1	58	1	0	0	0	0	1	0	0	0	1321	855	30	3	1919	3	BAT2L1	9	134343102	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	574053	134343102	6870329	666	8416										
GTF3C4	9329	genome.wustl.edu	37	chr9	135546243	135546243	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgtccacggcccgcagcatCgctgtgctggagctcatctg	13	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:135546243C>T	ENST00000372146.4	+	1	822	c.258C>T	c.(256-258)atC>atT	p.I86I	DDX31_ENST00000372153.1_5'Flank|GTF3C4_ENST00000483873.2_Silent_p.I86I|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000310532.2_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	86					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.I86I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCCGCAGCATCGCTGTGCTGG	0.672																																					Pancreas(142;417 1875 11086 31973 47667)												1	Substitution - coding silent(1)	cervix(1)											27	30	29					9																	135546243		2203	4299	6502	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.258C>T	9.37:g.135546243C>T			Q5VZJ7	Silent	SNP	superfamily_WD40_repeat_dom	p.I86	ENST00000372146.4	37	c.258	CCDS6953.1	9																																																																																			GTF3C4	-	NULL		0.672	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	C			135546243	1	no_errors	ENST00000372146	ensembl	human	known	70_37	silent	SNP	0.998	T	T	135546243	C	T	135546243	2	4	58	1	0	0	0	0	0	0	0	1	6895	874	31	1		1	GTF3C4	9	135546243	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1203141	135546243	5667188	667	8417										
SLC2A6	11182	genome.wustl.edu	37	chr9	136340663	136340663	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcgagttgggcatgaagctGagcagcaggatcatgatgag	17	6	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:136340663G>C	ENST00000371899.4	-	5	710	c.633C>G	c.(631-633)ctC>ctG	p.L211L	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.L211L	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	211					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.L211L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCATGAAGCTGAGCAGCAGGA	0.716																																																	1	Substitution - coding silent(1)	cervix(1)											20	21	20					9																	136340663		2198	4295	6493	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.633C>G	9.37:g.136340663G>C			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.L211	ENST00000371899.4	37	c.633	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.716	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	G	NM_017585		136340663	-1	no_errors	ENST00000371899	ensembl	human	known	70_37	silent	SNP	0.998	C	C	136340663	G	C	136340663	2	2	58	1	0	0	0	0	0	0	0	1	14579	1277	45	1		1	SLC2A6	9	136340663	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	794420	136340663	4872768	668	8418										
NOTCH1	4851	genome.wustl.edu	37	chr9	139397773	139397773	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggttgtcaatctccaggtaGacgatggagctgggcggaca	15	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139397773G>A	ENST00000277541.6	-	27	5103	c.5028C>T	c.(5026-5028)gtC>gtT	p.V1676V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1676					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1676V(1)|p.Y1678del(1)|p.V1677V(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTCCAGGTAGACGATGGAGC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	3	Substitution - coding silent(2)|Deletion - In frame(1)	cervix(2)|haematopoietic_and_lymphoid_tissue(1)											56	66	63					9																	139397773		2149	4259	6408	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5028C>T	9.37:g.139397773G>A			Q59ED8|Q5SXM3	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.V1676	ENST00000277541.6	37	c.5028	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_Notch_NODP_dom,pirsf_Notch		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139397773	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	silent	SNP	0.972	A	A	139397773	G	A	139397773	2	1	58	1	0	0	0	0	0	0	0	1	10571	929	33	1		1	NOTCH1	9	139397773	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3057110	139397773	1815658	669	8419										
NOTCH1	4851	genome.wustl.edu	37	chr9	139418380	139418380	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgttcttgcagggggtgctGaggcacgggttggggtcctg	20	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139418380G>A	ENST00000277541.6	-	3	267	c.192C>T	c.(190-192)ctC>ctT	p.L64L	NOTCH1_ENST00000491649.1_5'Flank	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	64	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L64L(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGGGTGCTGAGGCACGGGT	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	2	Substitution - coding silent(2)	cervix(2)											15	20	18					9																	139418380		2069	4180	6249	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.192C>T	9.37:g.139418380G>A			Q59ED8|Q5SXM3	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.L64	ENST00000277541.6	37	c.192	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139418380	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	silent	SNP	0.997	A	A	139418380	G	A	139418380	2	1	58	1	0	0	0	0	0	0	0	1	10571	1277	45	1		1	NOTCH1	9	139418380	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	20607	139418380	1795051	670	8420										
PHPT1	29085	genome.wustl.edu	37	chr9	139744960	139744960	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacaaaaaccaccagcagatGagacccacgtgcgtccctct	7	16	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139744960G>A	ENST00000247665.10	+	3	622				MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Missense_Mutation_p.M96I|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_Missense_Mutation_p.M96I	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)	p.M96I(1)		NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACCAGCAGATGAGACCCACGT	0.642																																																	1	Substitution - Missense(1)	cervix(1)											43	44	44					9																	139744960		1563	3578	5141	SO:0001627	intron_variant	29085			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.286-247G>A	9.37:g.139744960G>A			B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	pfam_Ocnus	p.M96I	ENST00000247665.10	37	c.288	CCDS7009.1	9	.	.	.	.	.	.	.	.	.	.	.	10.16	1.274081	0.23221	.	.	ENSG00000054148	ENST00000371661;ENST00000545326	.	.	.	2.09	-4.18	0.03846	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14755	-1.0461	7	0.41790	T	0.15	.	1.5783	0.02629	0.232:0.1525:0.4633:0.1522	.	96	Q9NRX4-2	.	I	96	.	ENSP00000360724:M96I	M	+	3	0	PHPT1	138864781	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.281000	0.08456	-1.436000	0.01970	-0.379000	0.06801	ATG	PHPT1	-	NULL		0.642	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	G	NM_014172		139744960	1	no_errors	ENST00000371661	ensembl	human	known	70_37	missense	SNP	0.000	A	A	139744960	G	A	139744960	1	1	58	0	1	0	0	0	0	0	0	0	11884	1290	45	1		1	PHPT1	9	139744960	Intron	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	326580	139744960	1468471	671	8421										
C9orf139	401563	genome.wustl.edu	37	chr9	139929366	139929366	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatcgtgcgtgggaacctgcGagctggcaaacggggctcgg	17	10	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139929366G>C	ENST00000314330.2	+	3	1947	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	145								p.E145Q(1)		cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGAACCTGCGAGCTGGCAAA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											40	50	47					9																	139929366		2200	4283	6483	SO:0001583	missense	401563				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.433G>C	9.37:g.139929366G>C	ENSP00000318119:p.Glu145Gln		A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	NULL	p.E145Q	ENST00000314330.2	37	c.433	CCDS7023.1	9	.	.	.	.	.	.	.	.	.	.	g	8.097	0.775722	0.16051	.	.	ENSG00000180539	ENST00000314330	T	0.55234	0.53	2.95	-5.9	0.02275	.	.	.	.	.	T	0.23014	0.0556	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.09751	-1.0660	9	0.31617	T	0.26	.	1.7508	0.02972	0.2547:0.4:0.1373:0.208	.	145	Q6ZV77	CI139_HUMAN	Q	145	ENSP00000318119:E145Q	ENSP00000318119:E145Q	E	+	1	0	C9orf139	139049187	0.000000	0.05858	0.000000	0.03702	0.437000	0.31866	-2.372000	0.01073	-2.512000	0.00503	0.290000	0.19541	GAG	C9orf139	-	NULL		0.612	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	HGNC	protein_coding	OTTHUMT00000055213.2	G	NM_207511		139929366	1	no_errors	ENST00000314330	ensembl	human	known	70_37	missense	SNP	0.000	C	C	139929366	G	C	139929366	3	2	58	1	0	0	0	0	1	0	0	0	2464	1059	37	1	439	1	C9orf139	9	139929366	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	184406	139929366	1284065	672	8422										
NELF	26012	genome.wustl.edu	37	chr9	140349726	140349726	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcggaatcattctcccgtttCcggcgcttcctctccgcgta	9	16	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:140349726C>T	ENST00000371475.3	-	6	975	c.744G>A	c.(742-744)cgG>cgA	p.R248R	NSMF_ENST00000392812.4_Intron|NSMF_ENST00000265663.7_Silent_p.R246R|NSMF_ENST00000371468.1_5'Flank|NSMF_ENST00000484316.1_5'Flank|NSMF_ENST00000371474.3_Intron|NSMF_ENST00000437259.1_Intron|NSMF_ENST00000371482.1_5'Flank|NSMF_ENST00000541195.1_5'Flank|NSMF_ENST00000371473.3_Silent_p.R248R|NSMF_ENST00000339554.3_Silent_p.R45R|NSMF_ENST00000371472.2_Silent_p.R246R	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	248					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)	p.R246R(1)									TCTCCCGTTTCCGGCGCTTCC	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											112	93	99					9																	140349726		2203	4300	6503	SO:0001819	synonymous_variant	26012				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.744G>A	9.37:g.140349726C>T			Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Silent	SNP	NULL	p.R248	ENST00000371475.3	37	c.744	CCDS48069.1	9																																																																																			NELF	-	NULL		0.657	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELF	HGNC	protein_coding		C	NM_015537		140349726	-1	no_errors	ENST00000371475	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140349726	C	T	140349726	2	4	58	1	0	0	0	0	0	0	0	1	10356	842	30	1		1	NELF	9	140349726	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	420360	140349726	863705	673	8423										
PITRM1	10531	genome.wustl.edu	37	chr10	3199698	3199698	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aattttatgaagtaaagcctCaattcgatcatcttcaaatc	4	8	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:3199698C>T	ENST00000224949.4	-	12	1310	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.E426K|PITRM1_ENST00000451104.2_Missense_Mutation_p.E394K|PITRM1_ENST00000380994.1_5'UTR			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	426					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E426K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AGTAAAGCCTCAATTCGATCA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											126	117	120					10																	3199698		1858	4110	5968	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1276G>A	10.37:g.3199698C>T	ENSP00000224949:p.Glu426Lys		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.E426K	ENST00000224949.4	37	c.1276	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	c	34	5.349513	0.95830	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.12774	2.65;2.65;2.65	5.75	5.75	0.90469	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.045321	0.85682	D	0.000000	T	0.33469	0.0864	M	0.85197	2.74	0.80722	D	1	B;P;P;P;P;P	0.42248	0.307;0.774;0.673;0.482;0.482;0.482	B;P;B;P;P;P	0.46885	0.126;0.53;0.444;0.461;0.461;0.461	T	0.07849	-1.0751	10	0.51188	T	0.08	.	19.9434	0.97174	0.0:1.0:0.0:0.0	.	419;394;426;426;426;419	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	K	426;419;426;394	ENSP00000224949:E426K;ENSP00000370377:E426K;ENSP00000401201:E394K	ENSP00000224949:E426K	E	-	1	0	PITRM1	3189698	1.000000	0.71417	0.965000	0.40720	0.936000	0.57629	4.206000	0.58473	2.710000	0.92621	0.563000	0.77884	GAG	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.388	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	C			3199698	-1	no_errors	ENST00000380989	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3199698	C	T	3199698	3	4	58	1	0	0	0	0	1	0	0	0	11977	835	29	1	1901	1	PITRM1	10	3199698	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		3199698	132335049	674	8424										
IL15RA	3601	genome.wustl.edu	37	chr10	6002384	6002384	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagttcttggctgttgtctGagagggggtgccgtgggagg	19	7	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:6002384G>C	ENST00000379977.3	-	4	626	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	IL15RA_ENST00000397251.3_Missense_Mutation_p.Q112E|IL15RA_ENST00000397255.3_Missense_Mutation_p.Q177E|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.Q141E|IL15RA_ENST00000530685.1_Missense_Mutation_p.Q144E|IL15RA_ENST00000397250.2_Missense_Mutation_p.Q79E|IL15RA_ENST00000528354.1_Missense_Mutation_p.Q144E|IL15RA_ENST00000379971.1_Missense_Mutation_p.Q79E|IL15RA_ENST00000525219.2_Missense_Mutation_p.Q141E			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	177					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.Q177E(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGTTGTCTGAGAGGGGGTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											160	160	160					10																	6002384		2203	4300	6503	SO:0001583	missense	3601			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"Interleukins and interleukin receptors", "CD molecules"	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.529C>G	10.37:g.6002384G>C	ENSP00000369312:p.Gln177Glu		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q177E	ENST00000379977.3	37	c.529	CCDS7074.1	10	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.722019	0.00700	.	.	ENSG00000134470	ENST00000397246;ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250;ENST00000379971;ENST00000530685;ENST00000397255;ENST00000525219;ENST00000429135;ENST00000453922	T;T;T;T;T;T;T;T;T;T	0.47869	1.54;1.54;1.54;1.54;1.54;0.83;1.83;1.54;2.14;1.54	4.19	4.19	0.49359	.	0.697838	0.13216	N	0.404732	T	0.60843	0.2300	L	0.50333	1.59	0.09310	N	1	D;D;P	0.71674	0.998;0.998;0.954	D;D;D	0.67900	0.921;0.921;0.954	T	0.50684	-0.8799	10	0.66056	D	0.02	-30.2732	12.2228	0.54443	0.0:0.0:1.0:0.0	.	144;177;141	Q13261-3;Q13261;E7ETI1	.;I15RA_HUMAN;.	E	141;112;177;141;141;144;79;79;144;177;112;144;140	ENSP00000380423:Q112E;ENSP00000369312:Q177E;ENSP00000380421:Q141E;ENSP00000435454:Q144E;ENSP00000380422:Q79E;ENSP00000369306:Q79E;ENSP00000435995:Q144E;ENSP00000380426:Q177E;ENSP00000395113:Q144E;ENSP00000405107:Q140E	ENSP00000322245:Q141E	Q	-	1	0	IL15RA	6042390	0.994000	0.37717	0.156000	0.22583	0.012000	0.07955	3.911000	0.56378	2.331000	0.79229	0.561000	0.74099	CAG	IL15RA	-	NULL		0.582	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL15RA	HGNC	protein_coding	OTTHUMT00000046615.2	G	NM_172200, NM_002189		6002384	-1	no_errors	ENST00000379977	ensembl	human	known	70_37	missense	SNP	0.255	C	C	6002384	G	C	6002384	3	2	58	1	0	0	0	0	1	0	0	0	7652	1299	45	1	290	1	IL15RA	10	6002384	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2802686	6002384	129532363	675	8425										
RBM17	84991	genome.wustl.edu	37	chr10	6154309	6154309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcggcaagatcatcgtgggcGacgccacagagaaaggtgtg	16	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:6154309G>A	ENST00000446108.1	+	8	1485	c.841G>A	c.(841-843)Gac>Aac	p.D281N	RBM17_ENST00000379888.4_Missense_Mutation_p.D281N	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	281	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D281N(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CATCGTGGGCGACGCCACAGA	0.597																																																	1	Substitution - Missense(1)	cervix(1)											45	37	39					10																	6154309		2203	4300	6503	SO:0001583	missense	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.841G>A	10.37:g.6154309G>A	ENSP00000388638:p.Asp281Asn		Q96GY6	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom	p.D281N	ENST00000446108.1	37	c.841	CCDS7077.1	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404216	0.83230	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.58	5.58	0.84498	.	0.182262	0.56097	D	0.000025	T	0.41328	0.1154	N	0.11927	0.2	0.80722	D	1	B	0.25743	0.133	B	0.18871	0.023	T	0.23511	-1.0186	9	0.20519	T	0.43	-11.2397	19.5496	0.95312	0.0:0.0:1.0:0.0	.	281	Q96I25	SPF45_HUMAN	N	281	.	ENSP00000369218:D281N	D	+	1	0	RBM17	6194315	1.000000	0.71417	0.202000	0.23494	0.362000	0.29581	9.546000	0.98097	2.623000	0.88846	0.462000	0.41574	GAC	RBM17	-	pirsf_Splicing_factor_SPF45		0.597	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM17	HGNC	protein_coding	OTTHUMT00000046635.1	G	NM_032905		6154309	1	no_errors	ENST00000379888	ensembl	human	known	70_37	missense	SNP	0.996	A	A	6154309	G	A	6154309	3	1	58	1	0	0	0	0	1	0	0	0	13149	1058	37	1	867	1	RBM17	10	6154309	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	151925	6154309	129380438	676	8426										
FAM171A1	221061	genome.wustl.edu	37	chr10	15255395	15255395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcattacttccgttccttCcagctctttggagatcaatg	6	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:15255395C>T	ENST00000378116.4	-	8	2198	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	731						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G731E(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCGTTCCTTCCAGCTCTTTG	0.537																																																	2	Substitution - Missense(2)	cervix(2)											101	86	91					10																	15255395		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2192G>A	10.37:g.15255395C>T	ENSP00000367356:p.Gly731Glu		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.G731E	ENST00000378116.4	37	c.2192	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004778	0.54254	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.29655	1.56	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47923	-0.9079	10	0.21540	T	0.41	-23.9241	19.0487	0.93032	0.0:1.0:0.0:0.0	.	731	Q5VUB5	F1711_HUMAN	E	731;730	ENSP00000367356:G731E	ENSP00000367356:G731E	G	-	2	0	FAM171A1	15295401	1.000000	0.71417	0.970000	0.41538	0.521000	0.34408	5.732000	0.68563	2.724000	0.93272	0.563000	0.77884	GGA	FAM171A1	-	pfam_Uncharacterised_FAM171		0.537	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15255395	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15255395	C	T	15255395	3	4	58	1	0	0	0	0	1	0	0	0	5505	855	30	1	484	1	FAM171A1	10	15255395	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9101086	15255395	120279352	677	8427										
PTPLA	9200	genome.wustl.edu	37	chr10	17636383	17636383	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agatgataaaaaaattatatCtggagaaagaaaaacctcag	7	4	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:17636383C>T	ENST00000361271.3	-	6	643		c.e6-1			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						AAAATTATATCTGGAGAAAGA	0.313																																																	1	Unknown(1)	cervix(1)											27	28	28					10																	17636383		2193	4289	6482	SO:0001630	splice_region_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.606-1G>A	10.37:g.17636383C>T			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	SNP	-	e6-1	ENST00000361271.3	37	c.606-1	CCDS7121.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645355	0.87859	.	.	ENSG00000165996	ENST00000361271	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPLA	17676389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.857000	0.98124	0.650000	0.86243	.	PTPLA	-	-		0.313	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1	C	NM_014241	Intron	17636383	-1	no_errors	ENST00000361271	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	17636383	C	T	17636383	5	4	58	1	0	0	0	0	0	0	1	0	12802	927	32	1	269	1	PTPLA	10	17636383	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2380988	17636383	117898364	678	8428										
MLLT10	8028	genome.wustl.edu	37	chr10	22021945	22021945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttattgaatgcacagctttCagtgccttttccaacaataa	6	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:22021945C>T	ENST00000307729.7	+	18	2514	c.2336C>T	c.(2335-2337)tCa>tTa	p.S779L	MLLT10_ENST00000446906.2_Missense_Mutation_p.S779L|MLLT10_ENST00000377072.3_Missense_Mutation_p.S795L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S779L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	779	Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S779L(1)|p.S795L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCACAGCTTTCAGTGCCTTTT	0.358			T	"MLL, PICALM, CDK6"	AL																																			Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	2	Substitution - Missense(2)	cervix(2)											104	100	101					10																	22021945		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2336C>T	10.37:g.22021945C>T	ENSP00000307411:p.Ser779Leu		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S779L	ENST00000307729.7	37	c.2336	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.556362	0.96514	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.67145	0.996;0.993;0.993;0.993	D;D;P;D	0.77557	0.99;0.977;0.823;0.977	T	0.01420	-1.1359	10	0.87932	D	0	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	474;779;779;795	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	795;779;779;614;779	ENSP00000366272:S795L;ENSP00000401406:S779L;ENSP00000307411:S779L;ENSP00000366258:S779L	ENSP00000307411:S779L	S	+	2	0	MLLT10	22061951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.661000	0.68025	2.860000	0.98153	0.655000	0.94253	TCA	MLLT10	-	NULL		0.358	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	C			22021945	1	no_errors	ENST00000307729	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22021945	C	T	22021945	3	4	58	1	0	0	0	0	1	0	0	0	9649	838	29	1	2454	1	MLLT10	10	22021945	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4385562	22021945	113512802	679	8429										
DNAJC1	64215	genome.wustl.edu	37	chr10	22048443	22048443	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcctccgctgccaccccctCtgcgtcctctcgctgggtga	9	20	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:22048443C>G	ENST00000376980.3	-	11	1542	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	418					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E418Q(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCCACCCCCTCTGCGTCCTCT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											45	40	42					10																	22048443		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1252G>C	10.37:g.22048443C>G	ENSP00000366179:p.Glu418Gln		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.E418Q	ENST00000376980.3	37	c.1252	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506840	0.26949	.	.	ENSG00000136770	ENST00000376980	T	0.65364	-0.15	5.35	-1.28	0.09318	.	1.619170	0.02817	N	0.125039	T	0.44265	0.1285	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.002;0.005	T	0.24728	-1.0152	10	0.14252	T	0.57	1.7672	10.0819	0.42395	0.0:0.4077:0.465:0.1273	.	139;418	Q96NY3;Q96KC8	.;DNJC1_HUMAN	Q	418	ENSP00000366179:E418Q	ENSP00000366179:E418Q	E	-	1	0	DNAJC1	22088449	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.605000	0.24179	-0.565000	0.06061	0.491000	0.48974	GAG	DNAJC1	-	NULL		0.632	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048443	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22048443	C	G	22048443	3	3	58	1	0	0	0	0	1	0	0	0	4638	922	32	1	420	1	DNAJC1	10	22048443	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	26498	22048443	113486304	680	8430										
BMI1	648	genome.wustl.edu	37	chr10	22618232	22618232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atggactgacaaatgctggaGaactggaaagtgactctggg	14	6	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:22618232G>A	ENST00000376663.3	+	10	1247	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.E391K	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	248					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.E248K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AAATGCTGGAGAACTGGAAAG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											79	74	75					10																	22618232		2203	4300	6503	SO:0001583	missense	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.742G>A	10.37:g.22618232G>A	ENSP00000365851:p.Glu248Lys		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E248K	ENST00000376663.3	37	c.742	CCDS7138.1	10	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705634	0.30232	.	.	ENSG00000168283	ENST00000376691;ENST00000376663;ENST00000443519	T;T	0.43294	1.56;0.95	5.68	5.68	0.88126	.	0.464009	0.26352	N	0.024875	T	0.26048	0.0635	N	0.08118	0	0.42608	D	0.993305	B;B	0.26002	0.04;0.139	B;B	0.18263	0.013;0.021	T	0.08680	-1.0710	10	0.20046	T	0.44	-12.1173	19.4021	0.94634	0.0:0.0:1.0:0.0	.	248;248	Q5U0M5;P35226	.;BMI1_HUMAN	K	160;248;153	ENSP00000365851:E248K;ENSP00000390768:E153K	ENSP00000365851:E248K	E	+	1	0	BMI1	22658238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.685000	0.91497	0.650000	0.86243	GAA	BMI1	-	NULL		0.478	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	G	NM_005180		22618232	1	no_errors	ENST00000376663	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22618232	G	A	22618232	3	1	58	1	0	0	0	0	1	0	0	0	1456	943	33	1	776	1	BMI1	10	22618232	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	569789	22618232	112916515	681	8431										
THNSL1	79896	genome.wustl.edu	37	chr10	25313422	25313422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagcacaaataattggcagtCagagagaaaatggatgggca	12	5	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:25313422C>G	ENST00000524413.1	+	3	1617	c.1270C>G	c.(1270-1272)Cag>Gag	p.Q424E	THNSL1_ENST00000376356.4_Missense_Mutation_p.Q424E			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	424						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.Q424E(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AATTGGCAGTCAGAGAGAAAA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											105	108	107					10																	25313422		2203	4300	6503	SO:0001583	missense	79896			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1270C>G	10.37:g.25313422C>G	ENSP00000434887:p.Gln424Glu		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,prints_Shikimate_kinase,tigrfam_Thr_synthase_like	p.Q424E	ENST00000524413.1	37	c.1270	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513421	0.27123	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.96651	-4.08;-4.08	5.71	5.71	0.89125	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.197928	0.44902	D	0.000404	D	0.94182	0.8133	L	0.31120	0.905	0.39319	D	0.965216	P	0.49447	0.924	P	0.46510	0.519	D	0.92643	0.6126	10	0.16420	T	0.52	-17.3028	19.8635	0.96793	0.0:1.0:0.0:0.0	.	424	Q8IYQ7	THNS1_HUMAN	E	424	ENSP00000434887:Q424E;ENSP00000365534:Q424E	ENSP00000365534:Q424E	Q	+	1	0	THNSL1	25353428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.202000	0.58446	2.700000	0.92200	0.650000	0.86243	CAG	THNSL1	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like		0.348	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1	C	NM_024838		25313422	1	no_errors	ENST00000376356	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25313422	C	G	25313422	3	3	58	1	0	0	0	0	1	0	0	0	15892	827	29	1	1272	1	THNSL1	10	25313422	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2695190	25313422	110221325	682	8432										
ANKRD26	22852	genome.wustl.edu	37	chr10	27301817	27301817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acaacataactaaccttgctCaagtagttctccatgctatt	4	11	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:27301817C>G	ENST00000376087.4	-	32	5112	c.4947G>C	c.(4945-4947)ttG>ttC	p.L1649F	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L1665F|ANKRD26_ENST00000376070.3_Missense_Mutation_p.L1206F	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1648					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.L1649F(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TAACCTTGCTCAAGTAGTTCT	0.328																																																	1	Substitution - Missense(1)	cervix(1)											113	104	107					10																	27301817		1823	4086	5909	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4947G>C	10.37:g.27301817C>G	ENSP00000365255:p.Leu1649Phe		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L1665F	ENST00000376087.4	37	c.4995	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.636200|2.636200	0.47049|0.47049	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000445828|ENST00000376070;ENST00000376087;ENST00000436985	.|T;T;T	.|0.46451	.|3.41;0.87;0.9	4.59|4.59	2.57|2.57	0.30868|0.30868	.|.	.|.	.|.	.|.	.|.	T|T	0.59293|0.59293	0.2183|0.2183	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	.|P;B;D	.|0.71674	.|0.559;0.423;0.998	.|B;B;D	.|0.83275	.|0.192;0.094;0.996	T|T	0.43360|0.43360	-0.9396|-0.9396	5|9	.|0.72032	.|D	.|0.01	.|.	7.5044|7.5044	0.27536|0.27536	0.1884:0.6293:0.1823:0.0|0.1884:0.6293:0.1823:0.0	.|.	.|1649;1648;1665	.|Q9UPS8-3;Q9UPS8;A1L497	.|.;ANR26_HUMAN;.	Q|F	137|1206;1649;1665	.|ENSP00000365238:L1206F;ENSP00000365255:L1649F;ENSP00000405112:L1665F	.|ENSP00000365238:L1206F	E|L	-|-	1|3	0|2	ANKRD26|ANKRD26	27341823|27341823	0.086000|0.086000	0.21541|0.21541	0.006000|0.006000	0.13384|0.13384	0.255000|0.255000	0.26057|0.26057	0.368000|0.368000	0.20399|0.20399	0.876000|0.876000	0.35872|0.35872	0.305000|0.305000	0.20034|0.20034	GAG|TTG	ANKRD26	-	NULL		0.328	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27301817	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.010	G	G	27301817	C	G	27301817	3	3	58	1	0	0	0	0	1	0	0	0	654	825	29	1	197	1	ANKRD26	10	27301817	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1988395	27301817	108232930	683	8433										
MASTL	84930	genome.wustl.edu	37	chr10	27454084	27454084	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggacaagtgttatcgcttatCagctcgttgggatttgtaag	12	6	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:27454084C>T	ENST00000375940.4	+	5	702	c.645C>T	c.(643-645)atC>atT	p.I215I	MASTL_ENST00000342386.6_Silent_p.I215I|MASTL_ENST00000375946.4_Silent_p.I215I			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.I215I(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATCGCTTATCAGCTCGTTGG	0.333																																																	1	Substitution - coding silent(1)	cervix(1)											84	82	83					10																	27454084		2203	4300	6503	SO:0001819	synonymous_variant	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.645C>T	10.37:g.27454084C>T			Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I215	ENST00000375940.4	37	c.645	CCDS53502.1	10																																																																																			MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.333	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27454084	1	no_errors	ENST00000375940	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27454084	C	T	27454084	2	4	58	1	0	0	0	0	0	0	0	1	9351	816	29	1		1	MASTL	10	27454084	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	152267	27454084	108080663	684	8434										
ARMC4	55130	genome.wustl.edu	37	chr10	28283895	28283895	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagggcgccaaacttgtgttCcattcaagtggttccacaaa	10	10	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:28283895C>T	ENST00000305242.5	-	2	269	c.177G>A	c.(175-177)tgG>tgA	p.W59*		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	59					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.W59*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AACTTGTGTTCCATTCAAGTG	0.353																																																	1	Substitution - Nonsense(1)	cervix(1)											85	79	81					10																	28283895		2203	4300	6503	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.177G>A	10.37:g.28283895C>T	ENSP00000306410:p.Trp59*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.W59*	ENST00000305242.5	37	c.177	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036534	0.35893	.	.	ENSG00000169126	ENST00000305242	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5248	18.2268	0.89920	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000306410:W59X	W	-	3	0	ARMC4	28323901	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	5.411000	0.66386	2.293000	0.77203	0.585000	0.79938	TGG	ARMC4	-	NULL		0.353	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	C	NM_018076		28283895	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	28283895	C	T	28283895	4	4	58	1	0	0	0	0	0	1	0	0	954	856	30	1	3033	1	ARMC4	10	28283895	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	829811	28283895	107250852	685	8435										
LYZL1	84569	genome.wustl.edu	37	chr10	29578116	29578116	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcttccgcagactcaactGagaagtcagcctctggggca	10	12	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:29578116G>A	ENST00000375500.3	+	1	127	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.E24K(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AGACTCAACTGAGAAGTCAGC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											47	41	43					10																	29578116		2203	4300	6503	SO:0001583	missense	84569				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.70G>A	10.37:g.29578116G>A	ENSP00000364650:p.Glu24Lys		Q5T921|Q8WW16	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.E24K	ENST00000375500.3	37	c.70	CCDS31174.1	10	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869663	0.51588	.	.	ENSG00000120563	ENST00000375500	T	0.67698	-0.28	4.04	1.62	0.23740	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.45673	-0.9245	8	0.56958	D	0.05	-1.2184	3.8751	0.09053	0.1856:0.2236:0.5908:0.0	.	24	Q6UWQ5-2	.	K	24	ENSP00000364650:E24K	ENSP00000364650:E24K	E	+	1	0	LYZL1	29618122	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	1.326000	0.33735	0.403000	0.25479	0.561000	0.74099	GAG	LYZL1	-	NULL		0.517	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL1	HGNC	protein_coding	OTTHUMT00000047381.1	G	NM_032517		29578116	1	no_errors	ENST00000375500	ensembl	human	known	70_37	missense	SNP	0.000	A	A	29578116	G	A	29578116	3	1	58	1	0	0	0	0	1	0	0	0	9154	1291	45	1	72	1	LYZL1	10	29578116	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1294221	29578116	105956631	686	8436										
MAP3K8	1326	genome.wustl.edu	37	chr10	30748220	30748220	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctccactggaagacattgcaGatgactgcagtccagggatg	12	10	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:30748220G>C	ENST00000263056.1	+	8	1759	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H	MAP3K8_ENST00000375321.1_Missense_Mutation_p.D355H|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D355H	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.D355H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGACATTGCAGATGACTGCAG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											71	75	74					10																	30748220		2203	4300	6503	SO:0001583	missense	1326			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1063G>C	10.37:g.30748220G>C	ENSP00000263056:p.Asp355His		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	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.D355H	ENST00000263056.1	37	c.1063	CCDS7166.1	10	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038523	0.19669	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.66099	-0.19;-0.19;-0.19	4.91	2.82	0.32997	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.522888	0.22121	N	0.064336	T	0.62109	0.2401	L	0.47716	1.5	0.09310	N	1	B	0.22746	0.074	B	0.35770	0.21	T	0.62431	-0.6856	10	0.62326	D	0.03	.	16.3902	0.83532	0.0:0.2663:0.7337:0.0	.	355	P41279	M3K8_HUMAN	H	355	ENSP00000263056:D355H;ENSP00000443610:D355H;ENSP00000364470:D355H	ENSP00000263056:D355H	D	+	1	0	MAP3K8	30788226	1.000000	0.71417	0.001000	0.08648	0.511000	0.34104	5.019000	0.64060	1.033000	0.39918	0.638000	0.83543	GAT	MAP3K8	-	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		0.498	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2	G	NM_005204		30748220	1	no_errors	ENST00000263056	ensembl	human	known	70_37	missense	SNP	0.017	C	C	30748220	G	C	30748220	3	2	58	1	0	0	0	0	1	0	0	0	9279	942	33	1	1085	1	MAP3K8	10	30748220	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1170104	30748220	104786527	687	8437										
C10orf68	79741	genome.wustl.edu	37	chr10	33137547	33137547	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaacttatttaaaaacaaaGatatgtccgtacaacgtcaa	5	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:33137547G>C	ENST00000375030.2	+	20	2020	c.1402G>C	c.(1402-1404)Gat>Cat	p.D468H	C10orf68_ENST00000375028.3_Missense_Mutation_p.D513H|C10orf68_ENST00000375025.4_Missense_Mutation_p.D573H			Q9H943	CJ068_HUMAN		509								p.D509H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAAAAACAAAGATATGTCCGT	0.313																																																	1	Substitution - Missense(1)	cervix(1)											58	59	59					10																	33137547		2202	4289	6491	SO:0001583	missense	79741																														ENST00000375030.2:c.1402G>C	10.37:g.33137547G>C	ENSP00000364170:p.Asp468His		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.D573H	ENST00000375030.2	37	c.1717		10	.	.	.	.	.	.	.	.	.	.	.	11.92	1.782404	0.31502	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.34472	1.39;1.37;1.36;1.36	3.06	-6.13	0.02118	.	.	.	.	.	T	0.40171	0.1106	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	D;D;D;D	0.68353	0.923;0.923;0.957;0.923	T	0.34800	-0.9814	9	0.59425	D	0.04	.	2.2154	0.03958	0.3668:0.1247:0.3831:0.1254	.	490;509;513;468	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	H	509;468;513;573;485	ENSP00000303710:D509H;ENSP00000364170:D468H;ENSP00000364168:D513H;ENSP00000364165:D573H	ENSP00000303710:D509H	D	+	1	0	C10orf68	33177553	0.027000	0.19231	0.000000	0.03702	0.114000	0.19823	-0.040000	0.12104	-1.880000	0.01125	0.491000	0.48974	GAT	C10orf68	-	NULL		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	G			33137547	1	no_errors	ENST00000375025	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33137547	G	C	33137547	3	2	58	1	0	0	0	0	1	0	0	0	1617	942	33	1	1591	1	C10orf68	10	33137547	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2389327	33137547	102397200	688	8438										
ALOX5	240	genome.wustl.edu	37	chr10	45924146	45924146	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacccctgcacactccagttCctggccgctcccatctgctt	7	19	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:45924146C>T	ENST00000374391.2	+	7	968	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ALOX5_ENST00000542434.1_Silent_p.F305F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	305	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.F305F(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CACTCCAGTTCCTGGCCGCTC	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											118	103	108					10																	45924146		2203	4300	6503	SO:0001819	synonymous_variant	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.915C>T	10.37:g.45924146C>T			B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.F305	ENST00000374391.2	37	c.915	CCDS7212.1	10																																																																																			ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.552	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	C			45924146	1	no_errors	ENST00000374391	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45924146	C	T	45924146	2	4	58	1	0	0	0	0	0	0	0	1	540	854	30	1		1	ALOX5	10	45924146	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	12786599	45924146	89610601	689	8439										
RBP3	5949	genome.wustl.edu	37	chr10	48390628	48390628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggagatgaccaggcgaggatCgttcagggagctctgcaccc	15	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:48390628C>T	ENST00000224600.4	-	1	363	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	84	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.D84N(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCGAGGATCGTTCAGGGAG	0.617																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											57	61	60					10																	48390628		2203	4300	6503	SO:0001583	missense	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.250G>A	10.37:g.48390628C>T	ENSP00000224600:p.Asp84Asn		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.D84N	ENST00000224600.4	37	c.250	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861180	0.91433	.	.	ENSG00000107618	ENST00000224600	T	0.69435	-0.4	5.71	5.71	0.89125	Interphotoreceptor retinol-binding, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91861	0.5499	10	0.87932	D	0	-53.1888	18.848	0.92215	0.0:1.0:0.0:0.0	.	84	P10745	RET3_HUMAN	N	84	ENSP00000224600:D84N	ENSP00000224600:D84N	D	-	1	0	RBP3	48010634	1.000000	0.71417	0.973000	0.42090	0.642000	0.38348	5.714000	0.68422	2.710000	0.92621	0.655000	0.94253	GAT	RBP3	-	pfam_Interphotorcpt_retinol-bd_N		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	C	NM_002900		48390628	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48390628	C	T	48390628	3	4	58	1	0	0	0	0	1	0	0	0	13187	884	31	1	3509	1	RBP3	10	48390628	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2466482	48390628	87144119	690	8440										
OGDHL	55753	genome.wustl.edu	37	chr10	50952795	50952795	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccggtcgtatttggcaatttCttcctggaatcaggatgaag	11	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:50952795C>T	ENST00000374103.4	-	13	1718	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	OGDHL_ENST00000419399.1_Missense_Mutation_p.E488K|OGDHL_ENST00000432695.1_Missense_Mutation_p.E336K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	545					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.E545K(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGGCAATTTCTTCCTGGAAT	0.532																																																	1	Substitution - Missense(1)	cervix(1)											98	94	95					10																	50952795		2203	4300	6503	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1633G>A	10.37:g.50952795C>T	ENSP00000363216:p.Glu545Lys		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.E545K	ENST00000374103.4	37	c.1633	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574280	0.45902	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95788	2.54;2.54;-3.81	5.6	5.6	0.85130	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93006	0.7774	N	0.25992	0.78	0.80722	D	1	B;B;B	0.23540	0.071;0.01;0.087	B;B;B	0.33690	0.049;0.02;0.168	D	0.88742	0.3244	10	0.28530	T	0.3	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	488;336;545	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	K	545;488;336	ENSP00000363216:E545K;ENSP00000401356:E488K;ENSP00000390240:E336K	ENSP00000363216:E545K	E	-	1	0	OGDHL	50622801	1.000000	0.71417	0.998000	0.56505	0.167000	0.22549	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GAA	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.532	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	C	NM_018245		50952795	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50952795	C	T	50952795	3	4	58	1	0	0	0	0	1	0	0	0	10864	922	32	1	1443	1	OGDHL	10	50952795	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2562167	50952795	84581952	691	8441										
PCDH15	65217	genome.wustl.edu	37	chr10	55698580	55698580	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtagtataacttactttttGaaggaactcggagattggca	10	5	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:55698580G>C	ENST00000320301.6	-	25	3762	c.3368C>G	c.(3367-3369)tCa>tGa	p.S1123*	PCDH15_ENST00000409834.1_Nonsense_Mutation_p.S734*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.S1130*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.S1123*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S1101*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S1123*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S1052*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.S1130*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S1086*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.S1128*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S1123*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1123	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S1123*(2)|p.S1128*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACTTTTTGAAGGAACTCG	0.378										HNSCC(58;0.16)																																							4	Substitution - Nonsense(4)	cervix(4)											95	89	91					10																	55698580		2203	4300	6503	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3368C>G	10.37:g.55698580G>C	ENSP00000322604:p.Ser1123*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1123*	ENST00000320301.6	37	c.3368	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.373509	0.99662	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.7695	0.91885	0.0:0.0:1.0:0.0	.	.	.	.	X	1130;1128;1123;1123;734;1130;1086;1123;1101;1123;1123;1128;1052	.	ENSP00000322604:S1123X	S	-	2	0	PCDH15	55368586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.990000	0.93510	2.729000	0.93468	0.655000	0.94253	TCA	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55698580	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	55698580	G	C	55698580	4	2	58	1	0	0	0	0	0	1	0	0	11535	1294	45	1	4154	1	PCDH15	10	55698580	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4745785	55698580	79836167	692	8442										
PCDH15	65217	genome.wustl.edu	37	chr10	55955586	55955586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atatggactttgattgttttCatccagtatttcaatgtgta	7	5	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:55955586C>T	ENST00000320301.6	-	11	1556	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E388K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E366K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E366K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E388K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E351K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E393K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E388K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E388K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	388	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E393K(2)|p.E388K(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATTGTTTTCATCCAGTATT	0.388										HNSCC(58;0.16)																																							4	Substitution - Missense(4)	cervix(4)											139	132	134					10																	55955586		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1162G>A	10.37:g.55955586C>T	ENSP00000322604:p.Glu388Lys		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E388K	ENST00000320301.6	37	c.1162	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195783	0.78902	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58940	0.49;0.54;0.46;0.47;0.4;0.59;0.44;0.37;0.45;0.3;0.38;0.38;0.44;0.55	5.17	4.27	0.50696	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68997	0.3062	M	0.79258	2.445	0.35979	D	0.83588	D;P;P;B;P;P;D;P;P;P;B;P;P;P;P	0.53151	0.958;0.864;0.749;0.103;0.845;0.919;0.958;0.491;0.761;0.599;0.365;0.85;0.538;0.85;0.864	P;B;B;B;P;P;P;B;B;B;B;P;P;P;B	0.53722	0.733;0.407;0.284;0.065;0.665;0.507;0.733;0.196;0.354;0.354;0.128;0.507;0.492;0.507;0.354	T	0.78513	-0.2175	9	0.54805	T	0.06	.	13.3033	0.60338	0.0:0.9222:0.0:0.0778	.	366;388;388;393;388;351;388;388;388;388;388;393;388;366;388	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	388;393;388;388;388;388;388;351;388;366;366;388;388;393;388;388	ENSP00000363076:E388K;ENSP00000410304:E393K;ENSP00000378826:E388K;ENSP00000378832:E388K;ENSP00000378833:E388K;ENSP00000378827:E388K;ENSP00000378820:E351K;ENSP00000354950:E388K;ENSP00000378821:E366K;ENSP00000363068:E366K;ENSP00000322604:E388K;ENSP00000378818:E388K;ENSP00000412628:E388K;ENSP00000363066:E388K	ENSP00000322604:E388K	E	-	1	0	PCDH15	55625592	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.915000	0.63355	1.197000	0.43143	-0.229000	0.12294	GAA	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55955586	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55955586	C	T	55955586	3	4	58	1	0	0	0	0	1	0	0	0	11535	835	29	1	6441	1	PCDH15	10	55955586	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	257006	55955586	79579161	693	8443										
CCAR1	55749	genome.wustl.edu	37	chr10	70532748	70532748	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcattttaaattatagaaaGaagataaaagaaaagatgat	8	1	0	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:70532748G>C	ENST00000265872.6	+	19	2661	c.2542G>C	c.(2542-2544)Gaa>Caa	p.E848Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.E833Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E833Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	848	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.E848Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTATAGAAAGAAGATAAAAG	0.358																																																	1	Substitution - Missense(1)	cervix(1)											45	45	45					10																	70532748		2201	4292	6493	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2542G>C	10.37:g.70532748G>C	ENSP00000265872:p.Glu848Gln		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E848Q	ENST00000265872.6	37	c.2542	CCDS7282.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.714255|2.714255	0.48622|0.48622	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000483471|ENST00000543706	T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.72|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.297247|.	0.34555|.	N|.	0.003873|.	T|T	0.49966|0.49966	0.1588|0.1588	N|N	0.24115|0.24115	0.695|0.695	0.34989|0.34989	D|D	0.754803|0.754803	B|.	0.33694|.	0.421|.	B|.	0.27076|.	0.076|.	T|T	0.56245|0.56245	-0.8011|-0.8011	10|5	0.27785|.	T|.	0.31|.	-22.4618|-22.4618	18.5047|18.5047	0.90893|0.90893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	848|.	Q8IX12|.	CCAR1_HUMAN|.	Q|T	848;833;833;833;13|137	ENSP00000265872:E848Q;ENSP00000441820:E833Q;ENSP00000445254:E833Q;ENSP00000439252:E833Q|.	ENSP00000265872:E848Q|.	E|R	+|+	1|2	0|0	CCAR1|CCAR1	70202754|70202754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	7.743000|7.743000	0.85020|0.85020	2.526000|2.526000	0.85167|0.85167	0.557000|0.557000	0.71058|0.71058	GAA|AGA	CCAR1	-	NULL		0.358	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237		70532748	1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70532748	G	C	70532748	3	2	58	1	0	0	0	0	1	0	0	0	2735	943	33	1	2612	1	CCAR1	10	70532748	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	14577162	70532748	65001999	694	8444										
DDIT4	54541	genome.wustl.edu	37	chr10	74034053	74034053	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgccccgaactcccaccccaGatcggccgccgcgctcagcc	9	22	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:74034053G>C	ENST00000307365.3	+	2	280	c.79G>C	c.(79-81)Gat>Cat	p.D27H	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	27					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.D27H(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCCCACCCCAGATCGGCCGCC	0.692																																																	1	Substitution - Missense(1)	cervix(1)											62	64	63					10																	74034053		2203	4300	6503	SO:0001583	missense	54541			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.79G>C	10.37:g.74034053G>C	ENSP00000307305:p.Asp27His		Q9H0S3	Missense_Mutation	SNP	pfam_RTP801-like	p.D27H	ENST00000307365.3	37	c.79	CCDS7315.1	10	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650233	0.67472	.	.	ENSG00000168209	ENST00000307365	T	0.50277	0.75	4.8	2.96	0.34315	.	0.633784	0.17094	N	0.187277	T	0.34745	0.0908	N	0.24115	0.695	0.37751	D	0.925973	B	0.22909	0.077	B	0.28638	0.092	T	0.28490	-1.0042	10	0.56958	D	0.05	0.0145	10.2446	0.43332	0.1636:0.0:0.8364:0.0	.	27	Q9NX09	DDIT4_HUMAN	H	27	ENSP00000307305:D27H	ENSP00000307305:D27H	D	+	1	0	DDIT4	73704059	0.955000	0.32602	0.969000	0.41365	0.949000	0.60115	3.191000	0.50981	0.749000	0.32854	0.655000	0.94253	GAT	DDIT4	-	NULL		0.692	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	G	NM_019058		74034053	1	no_errors	ENST00000307365	ensembl	human	known	70_37	missense	SNP	0.982	C	C	74034053	G	C	74034053	3	2	58	1	0	0	0	0	1	0	0	0	4336	942	33	1	81	1	DDIT4	10	74034053	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3501305	74034053	61500694	695	8445										
NDST2	8509	genome.wustl.edu	37	chr10	75568002	75568002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagtctcccaagggcagggGcaagggttccttggccttag	15	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:75568002G>A	ENST00000309979.6	-	3	701	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Intron|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.P49S			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	49	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.P49S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AAGGGCAGGGGCAAGGGTTCC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											21	21	21					10																	75568002		2201	4300	6501	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.145C>T	10.37:g.75568002G>A	ENSP00000310657:p.Pro49Ser		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.P49S	ENST00000309979.6	37	c.145	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474146	0.43942	.	.	ENSG00000166507	ENST00000309979	T	0.34472	1.36	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.11673	0.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36432	-0.9748	10	0.18710	T	0.47	.	19.1253	0.93380	0.0:0.0:1.0:0.0	.	49	P52849	NDST2_HUMAN	S	49	ENSP00000310657:P49S	ENSP00000310657:P49S	P	-	1	0	NDST2	75238008	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.411000	0.80078	2.518000	0.84900	0.561000	0.74099	CCC	NDST2	-	pfam_Heparan_SO4_deacetylase		0.647	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	G	NM_003635		75568002	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75568002	G	A	75568002	3	1	58	1	0	0	0	0	1	0	0	0	10280	1203	42	4	2558	4	NDST2	10	75568002	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1533949	75568002	59966745	696	8446										
MYST4	23522	genome.wustl.edu	37	chr10	76788623	76788623	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaaaaccagaagatgatctCatcaaacctgaggaagagga	10	7	2	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:76788623C>T	ENST00000287239.4	+	18	4530	c.4041C>T	c.(4039-4041)ctC>ctT	p.L1347L	KAT6B_ENST00000372711.1_Silent_p.L1164L|KAT6B_ENST00000372724.1_Silent_p.L1055L|KAT6B_ENST00000372725.1_Silent_p.L1055L|KAT6B_ENST00000372714.1_Silent_p.L1055L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1347					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L1347L(1)									AAGATGATCTCATCAAACCTg	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											49	49	49					10																	76788623		2203	4300	6503	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4041C>T	10.37:g.76788623C>T			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L1347	ENST00000287239.4	37	c.4041	CCDS7345.1	10																																																																																			KAT6B	-	NULL		0.478	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	C	NM_012330		76788623	1	no_errors	ENST00000287239	ensembl	human	known	70_37	silent	SNP	0.000	T	T	76788623	C	T	76788623	2	4	58	1	0	0	0	0	0	0	0	1	10128	813	29	1		1	MYST4	10	76788623	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1220621	76788623	58746124	697	8447										
VDAC2	7417	genome.wustl.edu	37	chr10	76979068	76979068	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctttcaaaatagatttgtCaaggtttgaaactgacattt	6	5	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:76979068C>T	ENST00000332211.6	+	6	523	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	VDAC2_ENST00000535553.1_Nonsense_Mutation_p.Q65*|VDAC2_ENST00000543351.1_Nonsense_Mutation_p.Q104*|VDAC2_ENST00000313132.4_Nonsense_Mutation_p.Q119*|VDAC2_ENST00000472137.1_3'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	104					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)	p.Q104*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ATAGATTTGTCAAGGTTTGAA	0.244																																																	1	Substitution - Nonsense(1)	cervix(1)											45	46	46					10																	76979068		2203	4299	6502	SO:0001587	stop_gained	7417			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.310C>T	10.37:g.76979068C>T	ENSP00000361686:p.Gln104*		Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Nonsense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.Q119*	ENST00000332211.6	37	c.355	CCDS7348.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287587	0.80803	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	.	.	.	5.37	4.41	0.53225	.	0.049559	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	11.4651	0.50235	0.3583:0.6417:0.0:0.0	.	.	.	.	X	104;104;104;104;65;119;104	.	ENSP00000298468:Q104X	Q	+	1	0	VDAC2	76649074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.730000	0.74780	2.513000	0.84729	0.655000	0.94253	CAA	VDAC2	-	pfam_Porin_Euk		0.244	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC2	HGNC	protein_coding	OTTHUMT00000048792.1	C	NM_003375		76979068	1	no_errors	ENST00000313132	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	76979068	C	T	76979068	4	4	58	1	0	0	0	0	0	1	0	0	17178	827	29	1	408	1	VDAC2	10	76979068	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	190445	76979068	58555679	698	8448										
GRID1	2894	genome.wustl.edu	37	chr10	87484191	87484191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcctgggctgggcagcactCtgagccctcacagcctgtat	13	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:87484191C>G	ENST00000327946.7	-	11	1861	c.1776G>C	c.(1774-1776)caG>caC	p.Q592H	GRID1_ENST00000536331.1_Missense_Mutation_p.Q163H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	592					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.Q592H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGGCAGCACTCTGAGCCCTCA	0.547										Multiple Myeloma(13;0.14)																																							1	Substitution - Missense(1)	cervix(1)											57	54	55					10																	87484191		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1776G>C	10.37:g.87484191C>G	ENSP00000330148:p.Gln592His		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q592H	ENST00000327946.7	37	c.1776	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374610	0.24857	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54479	0.57;0.57	5.61	3.76	0.43208	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.972498	0.08530	N	0.932234	T	0.44350	0.1289	L	0.43152	1.355	0.58432	D	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.10800	-1.0614	10	0.10111	T	0.7	.	11.3741	0.49717	0.0:0.8529:0.0:0.1471	.	592	Q9ULK0	GRID1_HUMAN	H	592;163	ENSP00000330148:Q592H;ENSP00000444455:Q163H	ENSP00000330148:Q592H	Q	-	3	2	GRID1	87474171	0.998000	0.40836	0.875000	0.34327	0.951000	0.60555	2.076000	0.41548	0.716000	0.32124	0.650000	0.86243	CAG	GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.547	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	C	XM_043613		87484191	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	missense	SNP	0.998	G	G	87484191	C	G	87484191	3	3	58	1	0	0	0	0	1	0	0	0	6791	912	32	1	1277	1	GRID1	10	87484191	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	10505123	87484191	48050556	699	8449										
FAM22A	728118	genome.wustl.edu	37	chr10	88994238	88994238	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcatcagttcccatctgctGagagaagaggcctcaaccta	8	13	4	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:88994238G>A	ENST00000381707.2	+	7	2793	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	NUTM2A-AS1_ENST00000456104.1_RNA|NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	804								p.E804K(1)									CCCATCTGCTGAGAGAAGAGG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											17	15	16					10																	88994238		1838	4018	5856	SO:0001583	missense	728118				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"family with sequence similarity 22, member A"	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.2410G>A	10.37:g.88994238G>A	ENSP00000371126:p.Glu804Lys		A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	NULL	p.E804K	ENST00000381707.2	37	c.2410	CCDS44452.1	10	.	.	.	.	.	.	.	.	.	.	g	3.451	-0.111941	0.06881	.	.	ENSG00000184923	ENST00000381707;ENST00000416901;ENST00000432986	T	0.12039	2.72	1.05	-0.0392	0.13877	Nuclear Testis protein, C-terminal (1);	2.259380	0.01771	N	0.031184	T	0.05823	0.0152	N	0.05351	-0.065	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23904	-1.0175	10	0.02654	T	1	.	3.1572	0.06508	0.2996:0.4043:0.2961:0.0	.	804	Q8IVF1	FA22A_HUMAN	K	804;731;188	ENSP00000371126:E804K	ENSP00000371126:E804K	E	+	1	0	FAM22A	88984218	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.697000	0.05098	-0.435000	0.07264	-1.973000	0.00462	GAG	FAM22A	-	NULL		0.602	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM22A	HGNC	protein_coding	OTTHUMT00000049198.2	G	NM_001099338		88994238	1	no_errors	ENST00000381707	ensembl	human	known	70_37	missense	SNP	0.000	A	A	88994238	G	A	88994238	3	1	58	1	0	0	0	0	1	0	0	0	5558	1291	45	1	2436	1	FAM22A	10	88994238	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1510047	88994238	46540509	700	8450										
LIPF	8513	genome.wustl.edu	37	chr10	90427329	90427329	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgggtttgcttcctcagagtCagatgattacttattgggga	12	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:90427329C>T	ENST00000238983.4	+	3	155	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	LIPF_ENST00000355843.2_Nonsense_Mutation_p.Q47*|LIPF_ENST00000608620.1_Nonsense_Mutation_p.Q37*|LIPF_ENST00000394375.3_Nonsense_Mutation_p.Q47*	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	37					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.Q47*(1)|p.Q37*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TCCTCAGAGTCAGATGATTAC	0.274																																																	2	Substitution - Nonsense(2)	cervix(2)											71	81	77					10																	90427329		2203	4297	6500	SO:0001587	stop_gained	8513			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.109C>T	10.37:g.90427329C>T	ENSP00000238983:p.Gln37*		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Nonsense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.Q47*	ENST00000238983.4	37	c.139	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798460	0.90538	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	.	.	.	4.64	3.7	0.42460	.	0.129829	0.35436	N	0.003219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.7384	12.2266	0.54463	0.0:0.5221:0.4779:0.0	.	.	.	.	X	47;37;37	.	ENSP00000238983:Q37X	Q	+	1	0	LIPF	90417309	0.979000	0.34478	1.000000	0.80357	0.964000	0.63967	0.799000	0.27028	1.098000	0.41479	0.650000	0.86243	CAG	LIPF	-	pfam_AB_hydrolase_lipase		0.274	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	C			90427329	1	no_errors	ENST00000394375	ensembl	human	known	70_37	nonsense	SNP	0.993	T	T	90427329	C	T	90427329	4	4	58	1	0	0	0	0	0	1	0	0	8843	827	29	1	115	1	LIPF	10	90427329	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1433091	90427329	45107418	701	8451										
ANKRD22	118932	genome.wustl.edu	37	chr10	90611348	90611348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagaaaggtgatgtacctcaGagtataggattcccatgctg	11	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:90611348G>C	ENST00000371930.4	-	1	227	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	6								p.S6C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATGTACCTCAGAGTATAGGAT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											136	128	131					10																	90611348		2203	4300	6503	SO:0001583	missense	118932			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"Ankyrin repeat domain containing"	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.17C>G	10.37:g.90611348G>C	ENSP00000360998:p.Ser6Cys		B2R9Y7|Q8WU06	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S6C	ENST00000371930.4	37	c.17	CCDS7390.1	10	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652402	0.47362	.	.	ENSG00000152766	ENST00000371930	T	0.33654	1.4	4.18	4.18	0.49190	.	0.121589	0.64402	D	0.000019	T	0.39809	0.1092	M	0.65498	2.005	0.58432	D	0.999996	B	0.28512	0.214	B	0.34038	0.174	T	0.41734	-0.9492	10	0.59425	D	0.04	-13.5605	12.3074	0.54910	0.0:0.0:1.0:0.0	.	6	Q5VYY1	ANR22_HUMAN	C	6	ENSP00000360998:S6C	ENSP00000360998:S6C	S	-	2	0	ANKRD22	90601328	0.998000	0.40836	0.995000	0.50966	0.579000	0.36224	4.079000	0.57613	2.620000	0.88729	0.650000	0.86243	TCT	ANKRD22	-	NULL		0.383	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD22	HGNC	protein_coding	OTTHUMT00000049262.1	G	NM_144590		90611348	-1	no_errors	ENST00000371930	ensembl	human	known	70_37	missense	SNP	0.995	C	C	90611348	G	C	90611348	3	2	58	1	0	0	0	0	1	0	0	0	651	942	33	1	582	1	ANKRD22	10	90611348	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	184019	90611348	44923399	702	8452										
BTAF1	9044	genome.wustl.edu	37	chr10	93749226	93749226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacaacaaggacgccctgtCccaattcaaaaattattaaa	5	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:93749226C>G	ENST00000265990.6	+	20	3051	c.2743C>G	c.(2743-2745)Ccc>Gcc	p.P915A		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	915					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P915A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GACGCCCTGTCCCAATTCAAA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											77	83	81					10																	93749226		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2743C>G	10.37:g.93749226C>G	ENSP00000265990:p.Pro915Ala		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P915A	ENST00000265990.6	37	c.2743	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727297	0.89390	.	.	ENSG00000095564	ENST00000265990	T	0.67865	-0.29	5.42	5.42	0.78866	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.109001	0.64402	D	0.000004	T	0.76097	0.3940	M	0.82823	2.61	0.80722	D	1	P;P	0.48694	0.914;0.914	P;P	0.46758	0.526;0.526	T	0.79176	-0.1911	10	0.48119	T	0.1	-0.2091	19.216	0.93778	0.0:1.0:0.0:0.0	.	915;915	Q2M1V9;O14981	.;BTAF1_HUMAN	A	915	ENSP00000265990:P915A	ENSP00000265990:P915A	P	+	1	0	BTAF1	93739206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.544000	0.85801	0.591000	0.81541	CCC	BTAF1	-	pfam_DUF3535,superfamily_ARM-type_fold		0.418	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	C	NM_003972		93749226	1	no_errors	ENST00000265990	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93749226	C	G	93749226	3	3	58	1	0	0	0	0	1	0	0	0	1539	855	30	1	2821	1	BTAF1	10	93749226	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3137878	93749226	41785521	703	8453										
EXOC6	54536	genome.wustl.edu	37	chr10	94700547	94700547	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaataagagaccaatacaatGaaacactgcttaagaaatgg	7	6	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:94700547G>A	ENST00000260762.6	+	13	1290	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	EXOC6_ENST00000371547.4_Missense_Mutation_p.E442K|EXOC6_ENST00000371552.4_Missense_Mutation_p.E421K|EXOC6_ENST00000443748.2_Missense_Mutation_p.E323K	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	426					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.E421K(1)|p.E426K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCAATACAATGAAACACTGCT	0.323																																																	2	Substitution - Missense(2)	cervix(2)											77	81	80					10																	94700547		2203	4298	6501	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1276G>A	10.37:g.94700547G>A	ENSP00000260762:p.Glu426Lys		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E442K	ENST00000260762.6	37	c.1324	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817781	0.90790	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.98	5.98	0.97165	.	0.136815	0.64402	D	0.000004	T	0.81327	0.4799	M	0.89785	3.06	0.80722	D	1	P;P;D;P;P	0.58268	0.701;0.863;0.982;0.568;0.568	B;P;P;B;B	0.56127	0.403;0.582;0.792;0.265;0.265	D	0.84321	0.0516	10	0.87932	D	0	-11.9228	20.452	0.99131	0.0:0.0:1.0:0.0	.	442;323;418;426;421	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	K	442;421;323;426	ENSP00000360602:E442K;ENSP00000360607:E421K;ENSP00000396206:E323K;ENSP00000260762:E426K	ENSP00000260762:E426K	E	+	1	0	EXOC6	94690527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.838000	0.97847	0.591000	0.81541	GAA	EXOC6	-	pirsf_Sec15		0.323	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94700547	1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94700547	G	A	94700547	3	1	58	1	0	0	0	0	1	0	0	0	5320	1291	45	1	1416	1	EXOC6	10	94700547	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	951321	94700547	40834200	704	8454										
CYP2C9	1559	genome.wustl.edu	37	chr10	96702004	96702004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atccggcgtttctccctcatGacgctgcggaattttgggat	11	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:96702004G>A	ENST00000260682.6	+	3	399	c.387G>A	c.(385-387)atG>atA	p.M129I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	129					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.M129I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCCCTCATGACGCTGCGGA	0.507																																					Ovarian(54;1266 1406 16072 35076)												1	Substitution - Missense(1)	cervix(1)											131	122	125					10																	96702004		2203	4300	6503	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.387G>A	10.37:g.96702004G>A	ENSP00000260682:p.Met129Ile		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.M129I	ENST00000260682.6	37	c.387	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	11.29	1.594551	0.28445	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.12039	2.72	3.34	2.42	0.29668	.	0.250442	0.28647	U	0.014608	T	0.17109	0.0411	M	0.73372	2.23	0.30155	N	0.802721	B;B;B	0.20988	0.018;0.018;0.05	B;B;B	0.32805	0.053;0.053;0.153	T	0.09530	-1.0670	10	0.54805	T	0.06	.	5.725	0.18008	0.2578:0.0:0.7422:0.0	.	129;129;129	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	I	129	ENSP00000260682:M129I	ENSP00000260682:M129I	M	+	3	0	CYP2C9	96691994	0.296000	0.24398	0.402000	0.26371	0.947000	0.59692	-0.153000	0.10144	0.708000	0.31955	0.484000	0.47621	ATG	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	G	NM_000771		96702004	1	no_errors	ENST00000260682	ensembl	human	known	70_37	missense	SNP	0.989	A	A	96702004	G	A	96702004	3	1	58	1	0	0	0	0	1	0	0	0	4173	1290	45	1	397	1	CYP2C9	10	96702004	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2001457	96702004	38832743	705	8455										
SORBS1	10580	genome.wustl.edu	37	chr10	97174291	97174291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaggtcaggctccgagactCtgcggaggtcctccggggca	16	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:97174291C>G	ENST00000361941.3	-	7	796	c.770G>C	c.(769-771)aGa>aCa	p.R257T	SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R257T|SORBS1_ENST00000371246.2_Missense_Mutation_p.R257T|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.R257T|SORBS1_ENST00000371249.2_Missense_Mutation_p.R225T|SORBS1_ENST00000354106.3_Missense_Mutation_p.R248T|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Missense_Mutation_p.R257T|SORBS1_ENST00000353505.5_Missense_Mutation_p.R188T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.R248T|SORBS1_ENST00000371245.3_Missense_Mutation_p.R188T|SORBS1_ENST00000607232.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R188T(1)|p.R257T(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTCCGAGACTCTGCGGAGGTC	0.632																																																	2	Substitution - Missense(2)	cervix(2)											36	37	36					10																	97174291		2203	4299	6502	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.770G>C	10.37:g.97174291C>G	ENSP00000355136:p.Arg257Thr			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R257T	ENST00000361941.3	37	c.770	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369104	0.61624	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.7;1.03;1.7;1.03;1.03;1.03;1.03;1.03;1.03	5.54	5.54	0.83059	.	0.147943	0.31949	N	0.006810	T	0.45597	0.1350	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P;P;P	0.50156	0.932;0.775;0.837;0.775;0.822;0.717;0.673	B;B;B;B;B;B;B	0.42593	0.387;0.306;0.392;0.306;0.359;0.211;0.307	T	0.50338	-0.8840	10	0.59425	D	0.04	-5.5254	18.4741	0.90785	0.0:1.0:0.0:0.0	.	455;225;257;225;188;257;257	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	T	188;225;257;257;257;248;188;257;257;248	ENSP00000360291:R188T;ENSP00000360295:R225T;ENSP00000360293:R257T;ENSP00000360271:R257T;ENSP00000360292:R257T;ENSP00000377521:R248T;ENSP00000343998:R188T;ENSP00000355136:R257T;ENSP00000277982:R257T;ENSP00000277984:R248T	ENSP00000277982:R257T	R	-	2	0	SORBS1	97164281	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	5.485000	0.66850	2.608000	0.88229	0.555000	0.69702	AGA	SORBS1	-	NULL		0.632	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97174291	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97174291	C	G	97174291	3	3	58	1	0	0	0	0	1	0	0	0	14957	913	32	1	3405	1	SORBS1	10	97174291	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	472287	97174291	38360456	706	8456										
PIK3AP1	118788	genome.wustl.edu	37	chr10	98405365	98405365	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcgtacacagcatcagcctCctccccgtgcatcagttcct	6	18	2	0	rs35933944		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:98405365C>A	ENST00000339364.5	-	8	1359	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E236*|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	414					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.E414*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCATCAGCCTCCTCCCCGTGC	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											186	145	159					10																	98405365		2203	4300	6503	SO:0001587	stop_gained	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1240G>T	10.37:g.98405365C>A	ENSP00000339826:p.Glu414*		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E414*	ENST00000339364.5	37	c.1240	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.737761	0.98935	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	.	.	.	5.61	5.61	0.85477	.	0.274240	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-27.3981	18.617	0.91306	0.0:1.0:0.0:0.0	rs35933944	.	.	.	X	414;236	.	ENSP00000339826:E414X	E	-	1	0	PIK3AP1	98395355	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.137000	0.58010	2.632000	0.89209	0.655000	0.94253	GAG	PIK3AP1	-	NULL		0.547	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98405365	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	98405365	C	A	98405365	4	1	58	1	0	0	0	0	0	1	0	0	11932	864	30	3	1217	3	PIK3AP1	10	98405365	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1231074	98405365	37129382	707	8457										
RRP12	23223	genome.wustl.edu	37	chr10	99160214	99160214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catgggcgtctccggggcttCgcttttgcccaagcgcaagg	14	13	1	0	rs367633522		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:99160214C>T	ENST00000370992.4	-	2	328	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RRP12_ENST00000315563.6_Missense_Mutation_p.E73K|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.E73K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	73						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E73K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCGGGGCTTCGCTTTTGCCC	0.562																																																	1	Substitution - Missense(1)	cervix(1)						C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	95	91	92		217,217	2.8	0.1	10		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	73/1237,73/1298	99160214	1,13005	2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.217G>A	10.37:g.99160214C>T	ENSP00000360031:p.Glu73Lys		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.E73K	ENST00000370992.4	37	c.217	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868698	0.32977	0.0	1.16E-4	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.30981	1.54;1.51;1.52	5.7	2.76	0.32466	.	0.620996	0.17041	N	0.189319	T	0.20495	0.0493	L	0.40543	1.245	0.52501	D	0.999955	B;B;B	0.29909	0.001;0.001;0.261	B;B;B	0.18263	0.0;0.001;0.021	T	0.04140	-1.0974	10	0.33940	T	0.23	-0.1604	7.1766	0.25749	0.0:0.5848:0.2673:0.1479	.	73;73;73	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	K	73	ENSP00000360031:E73K;ENSP00000324315:E73K;ENSP00000414863:E73K	ENSP00000324315:E73K	E	-	1	0	RRP12	99150204	0.563000	0.26594	0.093000	0.20910	0.104000	0.19210	2.370000	0.44240	0.308000	0.22923	0.462000	0.41574	GAA	RRP12	-	NULL		0.562	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99160214	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	0.515	T	T	99160214	C	T	99160214	3	4	58	1	0	0	0	0	1	0	0	0	13716	893	31	1	3808	1	RRP12	10	99160214	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	754849	99160214	36374533	708	8458										
ENTPD7	57089	genome.wustl.edu	37	chr10	101464287	101464287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtatacaaccactatctcttCtttgcctgtatcctggtggt	7	11	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101464287C>G	ENST00000370489.4	+	13	1840	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	554						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F554L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACTATCTCTTCTTTGCCTGTA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											203	165	178					10																	101464287		2203	4300	6503	SO:0001583	missense	57089			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1662C>G	10.37:g.101464287C>G	ENSP00000359520:p.Phe554Leu		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.F554L	ENST00000370489.4	37	c.1662	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466969	0.43839	.	.	ENSG00000198018	ENST00000370489	T	0.13420	2.59	5.0	3.15	0.36227	.	0.055398	0.64402	D	0.000001	T	0.14356	0.0347	M	0.65975	2.015	0.80722	D	1	B	0.15473	0.013	B	0.20184	0.028	T	0.05886	-1.0858	10	0.14252	T	0.57	-5.0782	9.7412	0.40420	0.0:0.7567:0.0:0.2433	.	554	Q9NQZ7	ENTP7_HUMAN	L	554	ENSP00000359520:F554L	ENSP00000359520:F554L	F	+	3	2	ENTPD7	101454277	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.660000	0.25009	0.718000	0.32166	-0.291000	0.09656	TTC	ENTPD7	-	NULL		0.507	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	C	NM_020354		101464287	1	no_errors	ENST00000370489	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101464287	C	G	101464287	3	3	58	1	0	0	0	0	1	0	0	0	5156	912	32	1	1708	1	ENTPD7	10	101464287	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2304073	101464287	34070460	709	8459										
DNMBP	23268	genome.wustl.edu	37	chr10	101715662	101715662	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgggcttgcggaccaggcttCatctccaatctctctgagat	10	12	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101715662C>T	ENST00000324109.4	-	4	1660	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.M523I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	523					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M523I(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GACCAGGCTTCATCTCCAATC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											110	106	107					10																	101715662		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1569G>A	10.37:g.101715662C>T	ENSP00000315659:p.Met523Ile		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.M523I	ENST00000324109.4	37	c.1569	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	7.951	0.744848	0.15710	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11385	2.84;2.78	5.92	-0.997	0.10215	.	1.585200	0.03656	N	0.241850	T	0.09423	0.0232	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39057	-0.9632	10	0.35671	T	0.21	0.2545	8.9375	0.35708	0.0:0.6165:0.1011:0.2824	.	523	Q6XZF7	DNMBP_HUMAN	I	523	ENSP00000344914:M523I;ENSP00000315659:M523I	ENSP00000315659:M523I	M	-	3	0	DNMBP	101705652	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.227000	0.09126	-0.064000	0.13043	0.561000	0.74099	ATG	DNMBP	-	NULL		0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	C	NM_015221		101715662	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	0.000	T	T	101715662	C	T	101715662	3	4	58	1	0	0	0	0	1	0	0	0	4684	826	29	1	3220	1	DNMBP	10	101715662	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	251375	101715662	33819085	710	8460										
DNMBP	23268	genome.wustl.edu	37	chr10	101716192	101716192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aataatgcagtcaggctcctCggcctcatggtcactggttt	10	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101716192C>T	ENST00000324109.4	-	4	1130	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.E347K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	347					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E347K(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCAGGCTCCTCGGCCTCATGG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											119	118	119					10																	101716192		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1039G>A	10.37:g.101716192C>T	ENSP00000315659:p.Glu347Lys		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.E347K	ENST00000324109.4	37	c.1039	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335875	0.24253	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12039	2.78;2.72	5.86	3.96	0.45880	Src homology-3 domain (1);	0.254061	0.27861	N	0.017544	T	0.06917	0.0176	N	0.24115	0.695	0.09310	N	0.999994	B	0.28850	0.225	B	0.20955	0.032	T	0.34601	-0.9822	10	0.08599	T	0.76	-17.2831	7.856	0.29483	0.0:0.7282:0.1338:0.1381	.	347	Q6XZF7	DNMBP_HUMAN	K	347	ENSP00000344914:E347K;ENSP00000315659:E347K	ENSP00000315659:E347K	E	-	1	0	DNMBP	101706182	0.024000	0.19004	0.028000	0.17463	0.008000	0.06430	0.599000	0.24089	1.446000	0.47643	0.561000	0.74099	GAG	DNMBP	-	superfamily_SH3_domain		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	C	NM_015221		101716192	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	0.004	T	T	101716192	C	T	101716192	3	4	58	1	0	0	0	0	1	0	0	0	4684	893	31	1	3750	1	DNMBP	10	101716192	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	530	101716192	33818555	711	8461										
CPN1	1369	genome.wustl.edu	37	chr10	101808556	101808556	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacggtcacagttactgtctCtgggtcatacccaggtgctg	11	12	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101808556C>G	ENST00000370418.3	-	8	1440	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	397					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E397Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTTACTGTCTCTGGGTCATAC	0.488																																																	1	Substitution - Missense(1)	cervix(1)											171	135	148					10																	101808556		2203	4300	6503	SO:0001583	missense	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1189G>C	10.37:g.101808556C>G	ENSP00000359446:p.Glu397Gln		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E397Q	ENST00000370418.3	37	c.1189	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	0.929	-0.713276	0.03206	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.40476	2.66;1.03	5.5	-3.75	0.04372	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.639352	0.16862	N	0.196487	T	0.13329	0.0323	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.12103	T	0.63	-18.3339	10.6349	0.45558	0.0:0.1704:0.5921:0.2375	.	397	P15169	CBPN_HUMAN	Q	397;194	ENSP00000359446:E397Q;ENSP00000410895:E194Q	ENSP00000359446:E397Q	E	-	1	0	CPN1	101798546	0.000000	0.05858	0.081000	0.20488	0.068000	0.16541	-0.403000	0.07214	-1.161000	0.02800	-0.162000	0.13425	GAG	CPN1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.488	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	C	NM_001308		101808556	-1	no_errors	ENST00000370418	ensembl	human	known	70_37	missense	SNP	0.002	G	G	101808556	C	G	101808556	3	3	58	1	0	0	0	0	1	0	0	0	3814	922	32	1	195	1	CPN1	10	101808556	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	92364	101808556	33726191	712	8462										
PPRC1	23082	genome.wustl.edu	37	chr10	103907125	103907125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atctcggtccaggtccctctCccccccacacaagaggtggc	9	18	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:103907125C>A	ENST00000278070.2	+	9	4415	c.4376C>A	c.(4375-4377)tCc>tAc	p.S1459Y	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.S426Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1459	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1459Y(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGGTCCCTCTCCCCCCCACAC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											88	73	78					10																	103907125		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4376C>A	10.37:g.103907125C>A	ENSP00000278070:p.Ser1459Tyr		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S1459Y	ENST00000278070.2	37	c.4376	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741087	0.69304	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.60299	0.2;0.2	5.76	5.76	0.90799	.	0.485845	0.25329	N	0.031447	T	0.66733	0.2819	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.973	T	0.68318	-0.5440	10	0.59425	D	0.04	.	18.1526	0.89679	0.0:1.0:0.0:0.0	.	1339;1459	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Y	1459;426	ENSP00000278070:S1459Y;ENSP00000359029:S426Y	ENSP00000278070:S1459Y	S	+	2	0	PPRC1	103897115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.996000	0.63914	2.724000	0.93272	0.462000	0.41574	TCC	PPRC1	-	NULL		0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	C	NM_015062		103907125	1	no_errors	ENST00000278070	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103907125	C	A	103907125	3	1	58	1	0	0	0	0	1	0	0	0	12437	855	30	3	4410	3	PPRC1	10	103907125	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2098569	103907125	31627622	713	8463										
NOLC1	9221	genome.wustl.edu	37	chr10	103916809	103916809	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaatgcctcttccctcttaGacatctatagcttctggctc	5	15	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:103916809G>C	ENST00000605788.1	+	2	389	c.154G>C	c.(154-156)Gac>Cac	p.D52H	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.D52H|NOLC1_ENST00000405356.1_Missense_Mutation_p.D52H	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	52					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.D52H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCCCTCTTAGACATCTATAG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											251	244	246					10																	103916809		2203	4300	6503	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.154G>C	10.37:g.103916809G>C	ENSP00000474710:p.Asp52His		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.D52H	ENST00000605788.1	37	c.154	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370959	0.61624	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.49720	0.77	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.78049	2.395	0.52099	D	0.999943	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.97	T	0.72839	-0.4171	10	0.87932	D	0	-21.286	17.4807	0.87672	0.0:0.0:1.0:0.0	.	52;52;52	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	H	52	ENSP00000385410:D52H	ENSP00000359024:D52H	D	+	1	0	NOLC1	103906799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.690000	0.68241	2.818000	0.97014	0.655000	0.94253	GAC	NOLC1	-	NULL		0.433	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	G	NM_004741		103916809	1	no_errors	ENST00000405356	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103916809	G	C	103916809	3	2	58	1	0	0	0	0	1	0	0	0	10553	942	33	1	160	1	NOLC1	10	103916809	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9684	103916809	31617938	714	8464										
PSD	5662	genome.wustl.edu	37	chr10	104176175	104176175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagtgtcagcaggtcctccGaagagtgtggccaggcgctc	14	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:104176175G>T	ENST00000020673.5	-	2	1147	c.621C>A	c.(619-621)ttC>ttA	p.F207L	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.F207L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	207					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.F207L(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGTCCTCCGAAGAGTGTGG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											19	23	22					10																	104176175		2164	4280	6444	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.621C>A	10.37:g.104176175G>T	ENSP00000020673:p.Phe207Leu		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.F207L	ENST00000020673.5	37	c.621	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	8.711	0.912116	0.17907	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.15487	2.42;2.42	5.53	0.338	0.15974	.	0.360345	0.26919	N	0.021831	T	0.05868	0.0153	N	0.08118	0	0.28268	N	0.924552	B	0.02656	0.0	B	0.04013	0.001	T	0.39563	-0.9608	10	0.09084	T	0.74	.	5.435	0.16476	0.2783:0.1381:0.5836:0.0	.	207	A5PKW4	PSD1_HUMAN	L	207;110;207	ENSP00000020673:F207L;ENSP00000384830:F207L	ENSP00000020673:F207L	F	-	3	2	PSD	104166165	0.002000	0.14202	0.925000	0.36789	0.604000	0.37047	-0.050000	0.11904	0.072000	0.16694	-0.921000	0.02739	TTC	PSD	-	NULL		0.647	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104176175	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.802	T	T	104176175	G	T	104176175	3	4	58	1	0	0	0	0	1	0	0	0	12673	1049	37	3	2517	3	PSD	10	104176175	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	259366	104176175	31358572	715	8465										
NT5C2	22978	genome.wustl.edu	37	chr10	104859772	104859772	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccatctttaaatcctgtttCacaactacagaaagataaaa	3	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:104859772C>T	ENST00000404739.3	-	7	567	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	NT5C2_ENST00000343289.5_Missense_Mutation_p.E182K|NT5C2_ENST00000423468.2_Missense_Mutation_p.E153K|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	182					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.E182K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AATCCTGTTTCACAACTACAG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											91	87	89					10																	104859772		2203	4300	6503	SO:0001583	missense	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.544G>A	10.37:g.104859772C>T	ENSP00000383960:p.Glu182Lys		B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E182K	ENST00000404739.3	37	c.544	CCDS7544.1	10	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922643	0.33908	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.31247	2.24;2.24;1.92;2.26;1.5	5.91	5.01	0.66863	HAD-like domain (1);	0.186478	0.56097	N	0.000030	T	0.21921	0.0528	L	0.27053	0.805	0.58432	D	0.999996	B;B;B	0.30634	0.21;0.288;0.21	B;B;B	0.30495	0.101;0.116;0.101	T	0.03597	-1.1021	10	0.12103	T	0.63	-6.9246	15.0087	0.71533	0.0:0.9318:0.0:0.0682	.	153;29;182	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	K	182;182;153;190;113;138	ENSP00000339479:E182K;ENSP00000383960:E182K;ENSP00000392236:E153K;ENSP00000396468:E190K;ENSP00000411330:E113K	ENSP00000339479:E182K	E	-	1	0	NT5C2	104849762	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.081000	0.71309	1.491000	0.48482	0.655000	0.94253	GAA	NT5C2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.398	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	C	NM_012229		104859772	-1	no_errors	ENST00000343289	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104859772	C	T	104859772	3	4	58	1	0	0	0	0	1	0	0	0	10711	835	29	1	1185	1	NT5C2	10	104859772	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	683597	104859772	30674975	716	8466										
SORCS1	114815	genome.wustl.edu	37	chr10	108716280	108716280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatctacatacctccaaagcGagctctctgtgatgctcccc	6	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:108716280G>A	ENST00000263054.6	-	2	624	c.617C>T	c.(616-618)tCg>tTg	p.S206L	SORCS1_ENST00000344440.6_Missense_Mutation_p.S206L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	206					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.S206L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTCCAAAGCGAGCTCTCTGT	0.418																																																	2	Substitution - Missense(2)	cervix(2)											145	133	137					10																	108716280		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.617C>T	10.37:g.108716280G>A	ENSP00000263054:p.Ser206Leu		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S206L	ENST00000263054.6	37	c.617	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864177	0.71949	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.51071	0.72;0.72	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.67088	0.2856	M	0.65498	2.005	0.46823	D	0.99921	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;P;P;D	0.63597	0.77;0.916;0.885;0.826;0.916	T	0.63107	-0.6711	9	.	.	.	-10.9247	20.3316	0.98722	0.0:0.0:1.0:0.0	.	206;206;206;206;206	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	L	206	ENSP00000263054:S206L;ENSP00000345964:S206L	.	S	-	2	0	SORCS1	108706270	1.000000	0.71417	0.977000	0.42913	0.281000	0.26958	7.715000	0.84713	2.871000	0.98454	0.655000	0.94253	TCG	SORCS1	-	smart_VPS10		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918		108716280	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	missense	SNP	0.997	A	A	108716280	G	A	108716280	3	1	58	1	0	0	0	0	1	0	0	0	14960	1059	37	1	3223	1	SORCS1	10	108716280	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3856508	108716280	26818467	717	8467										
ADRA2A	150	genome.wustl.edu	37	chr10	112838144	112838144	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacctggcgctcgacgtgctCttctgcacgtcgtccatcgt	10	15	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:112838144C>G	ENST00000280155.2	+	1	1355	c.390C>G	c.(388-390)ctC>ctG	p.L130L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	115					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.L115L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGACGTGCTCTTCTGCACGT	0.622																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Substitution - coding silent(1)	cervix(1)											97	78	84					10																	112838144		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.390C>G	10.37:g.112838144C>G			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.L130	ENST00000280155.2	37	c.390	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.622	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	C	NM_000681		112838144	1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	G	G	112838144	C	G	112838144	2	3	58	1	0	0	0	0	0	0	0	1	337	900	32	1		1	ADRA2A	10	112838144	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4121864	112838144	22696603	718	8468										
ADRA2A	150	genome.wustl.edu	37	chr10	112839032	112839032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcacgctcttcaaattcttCttctggttcggctactgcaa	7	13	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:112839032C>T	ENST00000280155.2	+	1	2243	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	411					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.F411F(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAAATTCTTCTTCTGGTTCG	0.572																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Substitution - coding silent(1)	cervix(1)											150	132	138					10																	112839032		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1278C>T	10.37:g.112839032C>T			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.F426	ENST00000280155.2	37	c.1278	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_rcpt		0.572	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	C	NM_000681		112839032	1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112839032	C	T	112839032	2	4	58	1	0	0	0	0	0	0	0	1	337	912	32	1		1	ADRA2A	10	112839032	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	888	112839032	22695715	719	8469										
DCLRE1A	9937	genome.wustl.edu	37	chr10	115602210	115602210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatggcaaaccggataacctCttgctgagatggaaaggtgt	13	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:115602210C>T	ENST00000361384.2	-	6	3474	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E853K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	853					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.E853K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CGGATAACCTCTTGCTGAGAT	0.413								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Missense(1)	cervix(1)											249	228	235					10																	115602210		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2557G>A	10.37:g.115602210C>T	ENSP00000355185:p.Glu853Lys		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.E853K	ENST00000361384.2	37	c.2557	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942127	0.92526	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.75367	-0.93;-0.93	5.96	5.06	0.68205	Beta-lactamase-like (1);	0.049079	0.85682	N	0.000000	T	0.82098	0.4963	M	0.82323	2.585	0.58432	D	0.999997	B	0.33549	0.417	P	0.45167	0.472	D	0.83630	0.0144	10	0.72032	D	0.01	-21.8976	13.5231	0.61580	0.0:0.9281:0.0:0.0719	.	853	Q6PJP8	DCR1A_HUMAN	K	853	ENSP00000355185:E853K;ENSP00000358311:E853K	ENSP00000355185:E853K	E	-	1	0	DCLRE1A	115592200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.731000	0.68554	1.532000	0.49169	-0.140000	0.14226	GAG	DCLRE1A	-	NULL		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	C	NM_014881		115602210	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115602210	C	T	115602210	3	4	58	1	0	0	0	0	1	0	0	0	4299	922	32	1	581	1	DCLRE1A	10	115602210	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2763178	115602210	19932537	720	8470										
VWA2	340706	genome.wustl.edu	37	chr10	116048875	116048875	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agccaggtgcagactgccttCgggctggacaccaaacccac	11	15	0	1	rs143465186		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:116048875C>T	ENST00000392982.3	+	12	1999	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	VWA2_ENST00000603594.1_Silent_p.F583F			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	583	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.F583F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGACTGCCTTCGGGCTGGACA	0.647																																																	1	Substitution - coding silent(1)	cervix(1)						C		2,4404	4.2+/-10.8	0,2,2201	56	49	51		1749	-2	1	10	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	VWA2	NM_198496.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		583/726	116048875	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1749C>T	10.37:g.116048875C>T			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.F583	ENST00000392982.3	37	c.1749		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.647	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	C	NM_198496		116048875	1	no_errors	ENST00000392982	ensembl	human	known	70_37	silent	SNP	0.929	T	T	116048875	C	T	116048875	2	4	58	1	0	0	0	0	0	0	0	1	17270	883	31	1		1	VWA2	10	116048875	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	446665	116048875	19485872	721	8471										
ATRNL1	26033	genome.wustl.edu	37	chr10	117228797	117228797	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaatcctaacattacattCtatgtgtacgtcagcaactt	5	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:117228797C>G	ENST00000355044.3	+	24	3738	c.3612C>G	c.(3610-3612)ttC>ttG	p.F1204L	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.F255L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1204					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F1204L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACATTACATTCTATGTGTACG	0.303																																																	1	Substitution - Missense(1)	cervix(1)											57	62	60					10																	117228797		2196	4279	6475	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3612C>G	10.37:g.117228797C>G	ENSP00000347152:p.Phe1204Leu		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F1204L	ENST00000355044.3	37	c.3612	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892084	0.72524	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.46819	0.86;0.86	5.73	2.83	0.33086	.	0.044996	0.85682	D	0.000000	T	0.64249	0.2581	M	0.75777	2.31	0.80722	D	1	D;D	0.69078	0.997;0.982	D;D	0.70716	0.97;0.952	T	0.68202	-0.5471	10	0.72032	D	0.01	-16.0032	10.7824	0.46386	0.0:0.7965:0.0:0.2035	.	255;1204	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1204;255	ENSP00000347152:F1204L;ENSP00000409624:F255L	ENSP00000347152:F1204L	F	+	3	2	ATRNL1	117218787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.290000	0.33319	1.404000	0.46819	0.585000	0.79938	TTC	ATRNL1	-	NULL		0.303	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117228797	1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117228797	C	G	117228797	3	3	58	1	0	0	0	0	1	0	0	0	1208	912	32	1	3706	1	ATRNL1	10	117228797	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1179922	117228797	18305950	722	8472										
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236174	118236174	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgtttacagtggaaaacttGagccaggcatgacttacaca	9	8	0	2	rs373926805		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:118236174G>C	ENST00000369230.3	+	11	1329	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	395	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.E395Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGGAAAACTTGAGCCAGGCAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											106	104	105					10																	118236174		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1183G>C	10.37:g.118236174G>C	ENSP00000358232:p.Glu395Gln			Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.E395Q	ENST00000369230.3	37	c.1183	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.135522	0.01742	.	.	ENSG00000203837	ENST00000369230	T	0.64438	-0.1	3.88	-5.46	0.02608	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.499670	0.04290	N	0.345329	T	0.26521	0.0648	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.14811	-1.0459	10	0.25751	T	0.34	.	5.6031	0.17365	0.379:0.431:0.19:0.0	.	395	Q17RR3	LIPR3_HUMAN	Q	395	ENSP00000358232:E395Q	ENSP00000358232:E395Q	E	+	1	0	PNLIPRP3	118226164	0.007000	0.16637	0.037000	0.18230	0.037000	0.13140	-0.038000	0.12144	-0.517000	0.06461	-1.202000	0.01658	GAG	PNLIPRP3	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.363	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118236174	1	no_errors	ENST00000369230	ensembl	human	known	70_37	missense	SNP	0.055	C	C	118236174	G	C	118236174	3	2	58	1	0	0	0	0	1	0	0	0	12176	1291	45	1	1225	1	PNLIPRP3	10	118236174	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1007377	118236174	17298573	723	8473										
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119805360	119805360	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgtcctcaaagatgtcattGagattgattgccacctgccc	8	11	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:119805360G>C	ENST00000355624.3	-	1	754	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454781.1_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.L105L|CASC2_ENST00000454857.1_RNA|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000435944.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	105					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L105L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AGATGTCATTGAGATTGATTG	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											60	60	60					10																	119805360		2203	4300	6503	SO:0001819	synonymous_variant	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.315C>G	10.37:g.119805360G>C			A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L105	ENST00000355624.3	37	c.315	CCDS7602.1	10																																																																																			RAB11FIP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.348	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	G	NM_014904		119805360	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	silent	SNP	1.000	C	C	119805360	G	C	119805360	2	2	58	1	0	0	0	0	0	0	0	1	12924	1277	45	1		1	RAB11FIP2	10	119805360	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1569186	119805360	15729387	724	8474										
INPP5F	22876	genome.wustl.edu	37	chr10	121569692	121569692	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcagcaaacagatattacctCaaccgatttaaggatgctta	6	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:121569692C>G	ENST00000361976.2	+	14	1816	c.1650C>G	c.(1648-1650)ctC>ctG	p.L550L		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L550L(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GATATTACCTCAACCGATTTA	0.363																																																	1	Substitution - coding silent(1)	cervix(1)											140	119	126					10																	121569692		2203	4300	6503	SO:0001819	synonymous_variant	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1650C>G	10.37:g.121569692C>G			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.L550	ENST00000361976.2	37	c.1650	CCDS7616.1	10																																																																																			INPP5F	-	NULL		0.363	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	C	NM_014937		121569692	1	no_errors	ENST00000361976	ensembl	human	known	70_37	silent	SNP	1.000	G	G	121569692	C	G	121569692	2	3	58	1	0	0	0	0	0	0	0	1	7778	813	29	1		1	INPP5F	10	121569692	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1764332	121569692	13965055	725	8475										
DMBT1	1755	genome.wustl.edu	37	chr10	124348773	124348773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcatgaagatgctggtgtCatctgctcaggtgggcctcc	12	11	4	2	rs556774273		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:124348773C>T	ENST00000338354.3	+	17	2203	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	DMBT1_ENST00000368955.3_Silent_p.V689V|DMBT1_ENST00000344338.3_Silent_p.V689V|DMBT1_ENST00000368909.3_Silent_p.V699V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	699	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.V699V(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCTGGTGTCATCTGCTCAG	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		20472	0		0	False		,,,				2504	0				Ovarian(182;93 2026 18125 22222 38972)												3	Substitution - coding silent(3)	cervix(3)											92	64	73					10																	124348773		1961	4099	6060	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2097C>T	10.37:g.124348773C>T			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.V699	ENST00000338354.3	37	c.2097		10																																																																																			DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124348773	1	no_errors	ENST00000368915	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124348773	C	T	124348773	2	4	58	1	0	0	0	0	0	0	0	1	4587	813	29	1		1	DMBT1	10	124348773	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2779081	124348773	11185974	726	8476										
FAM53B	9679	genome.wustl.edu	37	chr10	126384767	126384767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgtaggtccttgactcatCttctttggcgtgtgctgaaa	11	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:126384767C>G	ENST00000337318.3	-	3	304	c.93G>C	c.(91-93)aaG>aaC	p.K31N	FAM53B_ENST00000280780.6_Missense_Mutation_p.K31N|FAM53B_ENST00000392754.3_Missense_Mutation_p.K31N|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	31								p.K31N(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTGACTCATCTTCTTTGGCG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											224	211	215					10																	126384767		2203	4300	6503	SO:0001583	missense	9679			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.93G>C	10.37:g.126384767C>G	ENSP00000338532:p.Lys31Asn		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NULL	p.K31N	ENST00000337318.3	37	c.93	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754371	0.49362	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.48201	0.82;0.82;0.82	4.94	4.94	0.65067	.	0.137935	0.48286	D	0.000190	T	0.58047	0.2095	L	0.61218	1.895	0.33582	D	0.60004	P;D;P	0.57257	0.944;0.979;0.944	P;P;P	0.53518	0.624;0.728;0.624	T	0.71464	-0.4585	10	0.52906	T	0.07	1.5237	15.1043	0.72310	0.0:1.0:0.0:0.0	.	31;31;31	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	N	31	ENSP00000338532:K31N;ENSP00000376509:K31N;ENSP00000280780:K31N	ENSP00000280780:K31N	K	-	3	2	FAM53B	126374757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.958000	0.56737	2.286000	0.76751	0.603000	0.83216	AAG	FAM53B	-	NULL		0.448	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	C	NM_014661		126384767	-1	no_errors	ENST00000337318	ensembl	human	known	70_37	missense	SNP	1.000	G	G	126384767	C	G	126384767	3	3	58	1	0	0	0	0	1	0	0	0	5598	912	32	1	1187	1	FAM53B	10	126384767	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2035994	126384767	9149980	727	8477										
DHX32	55760	genome.wustl.edu	37	chr10	127542656	127542656	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcttttttctgtttcatcGagtggcttgaacaatgaaca	7	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:127542656G>C	ENST00000284690.3	-	4	1456	c.966C>G	c.(964-966)ctC>ctG	p.L322L	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	322						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.L322L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGTTTCATCGAGTGGCTTGA	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											140	140	140					10																	127542656		2203	4300	6503	SO:0001819	synonymous_variant	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.966C>G	10.37:g.127542656G>C			A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.L322	ENST00000284690.3	37	c.966	CCDS7652.1	10																																																																																			DHX32	-	NULL		0.388	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	G	NM_018180		127542656	-1	no_errors	ENST00000284690	ensembl	human	known	70_37	silent	SNP	0.000	C	C	127542656	G	C	127542656	2	2	58	1	0	0	0	0	0	0	0	1	4515	1045	37	1		1	DHX32	10	127542656	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1157889	127542656	7992091	728	8478										
FANK1	92565	genome.wustl.edu	37	chr10	127693572	127693572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctgcactgggctgcagatgGaggccactgcagtgtgattg	15	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:127693572G>A	ENST00000368693.1	+	7	763	c.659G>A	c.(658-660)gGa>gAa	p.G220E	FANK1_ENST00000368695.1_Missense_Mutation_p.G214E|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	220						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G220E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCTGCAGATGGAGGCCACTGC	0.522																																																	1	Substitution - Missense(1)	cervix(1)											173	158	163					10																	127693572		2203	4300	6503	SO:0001583	missense	92565			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.659G>A	10.37:g.127693572G>A	ENSP00000357682:p.Gly220Glu		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.G220E	ENST00000368693.1	37	c.659	CCDS31309.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.508674|4.508674	0.85282|0.85282	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000456942|ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	.|T;T;T	.|0.63580	.|-0.03;-0.03;-0.05	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.67906|0.67906	0.2943|0.2943	N|N	0.16368|0.16368	0.405|0.405	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.69064|0.69064	-0.5244|-0.5244	5|10	.|0.42905	.|T	.|0.14	-29.9|-29.9	18.8114|18.8114	0.92059|0.92059	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|246;220;220	.|Q8TC84-3;Q8TC84-2;Q8TC84	.|.;.;FANK1_HUMAN	K|E	115|214;220;198;246	.|ENSP00000357684:G214E;ENSP00000357682:G220E;ENSP00000357680:G198E	.|ENSP00000357680:G198E	E|G	+|+	1|2	0|0	FANK1|FANK1	127683562|127683562	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.917000|0.917000	0.54804|0.54804	6.447000|6.447000	0.73465|0.73465	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAG|GGA	FANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.522	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		G	NM_145235		127693572	1	no_errors	ENST00000368693	ensembl	human	known	70_37	missense	SNP	1.000	A	A	127693572	G	A	127693572	3	1	58	1	0	0	0	0	1	0	0	0	5690	1174	41	1	685	1	FANK1	10	127693572	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	150916	127693572	7841175	729	8479										
TUBGCP2	10844	genome.wustl.edu	37	chr10	135112976	135112976	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgctgccaagctgcttcctCagttcctcaagctcctgcat	7	16	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:135112976C>T	ENST00000252936.3	-	3	450	c.411G>A	c.(409-411)ctG>ctA	p.L137L	TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_Silent_p.L7L|TUBGCP2_ENST00000368563.2_Silent_p.L137L|TUBGCP2_ENST00000543663.1_Silent_p.L137L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	137					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.L137L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCTGCTTCCTCAGTTCCTCAA	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											64	54	57					10																	135112976		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.411G>A	10.37:g.135112976C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.L137	ENST00000252936.3	37	c.411	CCDS7676.1	10																																																																																			TUBGCP2	-	NULL		0.622	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	C			135112976	-1	no_errors	ENST00000543663	ensembl	human	known	70_37	silent	SNP	1.000	T	T	135112976	C	T	135112976	2	4	58	1	0	0	0	0	0	0	0	1	16797	813	29	1		1	TUBGCP2	10	135112976	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7419404	135112976	421771	730	8480										
SIGIRR	59307	genome.wustl.edu	37	chr11	406528	406528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacttctttccaaaaatcgGaggaaggagtctgggggcca	13	9	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:406528G>A	ENST00000431843.2	-	9	1196	c.890C>T	c.(889-891)tCc>tTc	p.S297F	SIGIRR_ENST00000531205.1_Missense_Mutation_p.S297F|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Missense_Mutation_p.S297F|SIGIRR_ENST00000382520.2_Missense_Mutation_p.S297F|SIGIRR_ENST00000397632.3_Missense_Mutation_p.S297F	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	297	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S297F(1)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAAAATCGGAGGAAGGAGT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											28	35	33					11																	406528		2198	4289	6487	SO:0001583	missense	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.890C>T	11.37:g.406528G>A	ENSP00000403104:p.Ser297Phe		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.S297F	ENST00000431843.2	37	c.890	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.29|19.29	3.798646|3.798646	0.70567|0.70567	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000526395|ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520	.|T;T;T;T;T	.|0.09350	.|2.99;2.99;2.99;2.99;2.99	3.01|3.01	3.01|3.01	0.34805|0.34805	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33702|0.33702	0.0872|0.0872	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.36648|0.36648	-0.9739|-0.9739	5|10	.|0.87932	.|D	.|0	.|.	14.0888|14.0888	0.64975|0.64975	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|297;297	.|C9JFX4;Q6IA17	.|.;SIGIR_HUMAN	S|F	29|297	.|ENSP00000403104:S297F;ENSP00000380756:S297F;ENSP00000333656:S297F;ENSP00000433022:S297F;ENSP00000371960:S297F	.|ENSP00000333656:S297F	P|S	-|-	1|2	0|0	SIGIRR|SIGIRR	396528|396528	1.000000|1.000000	0.71417|0.71417	0.650000|0.650000	0.29550|0.29550	0.642000|0.642000	0.38348|0.38348	8.618000|8.618000	0.90932|0.90932	1.702000|1.702000	0.51228|0.51228	0.491000|0.491000	0.48974|0.48974	CCG|TCC	SIGIRR	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.657	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	G	NM_021805		406528	-1	no_errors	ENST00000382520	ensembl	human	known	70_37	missense	SNP	0.998	A	A	406528	G	A	406528	3	1	58	1	0	0	0	0	1	0	0	0	14334	1174	41	1	350	1	SIGIRR	11	406528	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		406528	134599988	731	8481										
SIGIRR	59307	genome.wustl.edu	37	chr11	408113	408113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggagaagctgatgttctgGatggagcaggtgaaggcccc	17	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:408113G>C	ENST00000431843.2	-	4	606	c.300C>G	c.(298-300)atC>atG	p.I100M	SIGIRR_ENST00000531205.1_Missense_Mutation_p.I100M|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Missense_Mutation_p.I100M|SIGIRR_ENST00000382520.2_Missense_Mutation_p.I100M|SIGIRR_ENST00000397632.3_Missense_Mutation_p.I100M	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	100	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I100M(2)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGATGTTCTGGATGGAGCAGG	0.587																																																	2	Substitution - Missense(2)	urinary_tract(1)|cervix(1)											125	116	119					11																	408113		2202	4300	6502	SO:0001583	missense	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.300C>G	11.37:g.408113G>C	ENSP00000403104:p.Ile100Met		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.I100M	ENST00000431843.2	37	c.300	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.648|8.648	0.897525|0.897525	0.17686|0.17686	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520|ENST00000528209	T;T;T;T;T|T	0.70516|0.22134	-0.49;-0.49;-0.49;-0.49;-0.49|1.97	3.0|3.0	3.0|3.0	0.34707|0.34707	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.463545|.	0.21489|.	N|.	0.073702|.	T|T	0.29783|0.29783	0.0744|0.0744	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	P;P|.	0.51351|.	0.944;0.61|.	P;B|.	0.46479|.	0.518;0.233|.	T|T	0.11817|0.11817	-1.0572|-1.0572	10|7	0.52906|0.87932	T|D	0.07|0	.|.	12.2696|12.2696	0.54697|0.54697	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	100;100|.	C9JFX4;Q6IA17|.	.;SIGIR_HUMAN|.	M|C	100|8	ENSP00000403104:I100M;ENSP00000380756:I100M;ENSP00000333656:I100M;ENSP00000433022:I100M;ENSP00000371960:I100M|ENSP00000435135:S8C	ENSP00000333656:I100M|ENSP00000435135:S8C	I|S	-|-	3|2	3|0	SIGIRR|SIGIRR	398113|398113	0.057000|0.057000	0.20700|0.20700	0.010000|0.010000	0.14722|0.14722	0.123000|0.123000	0.20343|0.20343	1.398000|1.398000	0.34554|0.34554	1.988000|1.988000	0.58038|0.58038	0.305000|0.305000	0.20034|0.20034	ATC|TCC	SIGIRR	-	pfscan_Ig-like		0.587	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	G	NM_021805		408113	-1	no_errors	ENST00000382520	ensembl	human	known	70_37	missense	SNP	0.003	C	C	408113	G	C	408113	3	2	58	1	0	0	0	0	1	0	0	0	14334	1164	41	1	960	1	SIGIRR	11	408113	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1585	408113	134598403	732	8482										
PTDSS2	81490	genome.wustl.edu	37	chr11	488567	488567	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctgcaacgggctgggcatCtactgcggcatgaagaccct	13	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:488567C>G	ENST00000308020.5	+	8	950	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	258					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)	p.I258M(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCTGGGCATCTACTGCGGCA	0.627																																																	1	Substitution - Missense(1)	cervix(1)											108	89	95					11																	488567		2203	4300	6503	SO:0001583	missense	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.774C>G	11.37:g.488567C>G	ENSP00000308258:p.Ile258Met			Missense_Mutation	SNP	pfam_PSS	p.I258M	ENST00000308020.5	37	c.774	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662780	0.67700	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.62266	1.93	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	T	0.66232	-0.5975	9	0.35671	T	0.21	-27.249	8.6893	0.34256	0.0:0.8582:0.0:0.1418	.	258	Q9BVG9	PTSS2_HUMAN	M	258	.	ENSP00000308258:I258M	I	+	3	3	PTDSS2	478567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.869000	0.27996	2.437000	0.82529	0.561000	0.74099	ATC	PTDSS2	-	pfam_PSS		0.627	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	C			488567	1	no_errors	ENST00000308020	ensembl	human	known	70_37	missense	SNP	1.000	G	G	488567	C	G	488567	3	3	58	1	0	0	0	0	1	0	0	0	12764	903	32	1	804	1	PTDSS2	11	488567	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	80454	488567	134517949	733	8483										
PHRF1	57661	genome.wustl.edu	37	chr11	606580	606580	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atccaccgcgacggctccctCagcgccaagagggcgggtga	14	15	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:606580C>G	ENST00000264555.5	+	13	1721	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	PHRF1_ENST00000413872.2_Silent_p.L529L|PHRF1_ENST00000416188.2_Silent_p.L530L|PHRF1_ENST00000533464.1_Silent_p.L527L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	531					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.L531L(1)|p.L536L(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGCTCCCTCAGCGCCAAGA	0.652																																																	2	Substitution - coding silent(2)	cervix(2)											29	34	32					11																	606580		2107	4219	6326	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1593C>G	11.37:g.606580C>G			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L531	ENST00000264555.5	37	c.1593		11																																																																																			PHRF1	-	NULL		0.652	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		606580	1	no_errors	ENST00000264555	ensembl	human	known	70_37	silent	SNP	0.968	G	G	606580	C	G	606580	2	3	58	1	0	0	0	0	0	0	0	1	11885	813	29	1		1	PHRF1	11	606580	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	118013	606580	134399936	734	8484										
PHRF1	57661	genome.wustl.edu	37	chr11	607352	607352	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagagccacagcccctggttCaacggcaccaacaagcacac	8	17	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:607352C>T	ENST00000264555.5	+	14	2024	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	PHRF1_ENST00000413872.2_Silent_p.F630F|PHRF1_ENST00000416188.2_Silent_p.F631F|PHRF1_ENST00000533464.1_Silent_p.F628F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	632					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.F637F(1)|p.F632F(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGTTCAACGGCACCA	0.612																																																	2	Substitution - coding silent(2)	cervix(2)											81	91	88					11																	607352		2045	4183	6228	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1896C>T	11.37:g.607352C>T			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.F632	ENST00000264555.5	37	c.1896		11																																																																																			PHRF1	-	NULL		0.612	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		607352	1	no_errors	ENST00000264555	ensembl	human	known	70_37	silent	SNP	0.002	T	T	607352	C	T	607352	2	4	58	1	0	0	0	0	0	0	0	1	11885	825	29	1		1	PHRF1	11	607352	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	772	607352	134399164	735	8485										
PHRF1	57661	genome.wustl.edu	37	chr11	608208	608208	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgagggggcctctgacacgGagcgagaggagcccacagag	17	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:608208G>C	ENST00000264555.5	+	14	2880	c.2752G>C	c.(2752-2754)Gag>Cag	p.E918Q	PHRF1_ENST00000413872.2_Missense_Mutation_p.E916Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.E917Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E914Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	918					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.E918Q(1)|p.E923Q(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCTGACACGGAGCGAGAGGA	0.692																																																	2	Substitution - Missense(2)	cervix(2)											22	26	25					11																	608208		1939	4101	6040	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2752G>C	11.37:g.608208G>C	ENSP00000264555:p.Glu918Gln		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E918Q	ENST00000264555.5	37	c.2752		11	.	.	.	.	.	.	.	.	.	.	G	7.498	0.652082	0.14580	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82619	-1.62;-1.63;-1.63;-1.62	3.58	2.65	0.31530	.	0.502635	0.14949	N	0.289019	T	0.71508	0.3348	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.43701	0.718;0.815;0.815;0.718	B;B;B;B	0.40101	0.169;0.319;0.319;0.169	T	0.59354	-0.7470	10	0.36615	T	0.2	-15.6892	9.2309	0.37437	0.1048:0.0:0.8952:0.0	.	914;916;917;918	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	918;916;917;914	ENSP00000264555:E918Q;ENSP00000388589:E916Q;ENSP00000410626:E917Q;ENSP00000431870:E914Q	ENSP00000264555:E918Q	E	+	1	0	PHRF1	598208	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	4.209000	0.58493	0.482000	0.27582	0.555000	0.69702	GAG	PHRF1	-	NULL		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	G	NM_020901		608208	1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	0.017	C	C	608208	G	C	608208	3	2	58	1	0	0	0	0	1	0	0	0	11885	1175	41	1	2799	1	PHRF1	11	608208	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	856	608208	134398308	736	8486										
MUC6	4588	genome.wustl.edu	37	chr11	1028329	1028329	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcgaggcggtgccctcggcGatacccatgctagtggtgaa	15	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1028329G>A	ENST00000421673.2	-	14	1700	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	550	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.I550I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCTCGGCGATACCCATGC	0.652																																																	2	Substitution - coding silent(2)	cervix(2)											45	55	52					11																	1028329		2135	4225	6360	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1650C>T	11.37:g.1028329G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I550	ENST00000421673.2	37	c.1650	CCDS44513.1	11																																																																																			MUC6	-	NULL		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1028329	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	silent	SNP	0.114	A	A	1028329	G	A	1028329	2	1	58	1	0	0	0	0	0	0	0	1	10003	1048	37	1		1	MUC6	11	1028329	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	420121	1028329	133978187	737	8487										
MUC6	4588	genome.wustl.edu	37	chr11	1028943	1028943	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttggtgaccacctcgtcctGagagatcacaattttgtcct	9	11	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1028943G>A	ENST00000421673.2	-	12	1449	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	467	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.Q467*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCGTCCTGAGAGATCACA	0.617																																																	2	Substitution - Nonsense(2)	cervix(2)											87	98	94					11																	1028943		2117	4242	6359	SO:0001587	stop_gained	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1399C>T	11.37:g.1028943G>A	ENSP00000406861:p.Gln467*		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q467*	ENST00000421673.2	37	c.1399	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895449	0.91962	.	.	ENSG00000184956	ENST00000421673	.	.	.	4.19	3.26	0.37387	.	0.000000	0.29987	U	0.010684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8877	0.46976	0.0:0.2478:0.7522:0.0	.	.	.	.	X	467	.	ENSP00000406861:Q467X	Q	-	1	0	MUC6	1018943	0.449000	0.25689	0.837000	0.33122	0.154000	0.21943	1.841000	0.39240	0.886000	0.36113	0.313000	0.20887	CAG	MUC6	-	pfam_VWF_type-D,smart_VWF_type-D		0.617	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1028943	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	nonsense	SNP	0.978	A	A	1028943	G	A	1028943	4	1	58	1	0	0	0	0	0	1	0	0	10003	1299	45	1	6008	1	MUC6	11	1028943	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	614	1028943	133977573	738	8488										
MUC5B	727897	genome.wustl.edu	37	chr11	1269780	1269780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacgcacgcctccagtgtgGatcagcacaaccaccacacc	8	18	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1269780G>C	ENST00000529681.1	+	31	11728	c.11670G>C	c.(11668-11670)tgG>tgC	p.W3890C	MUC5B_ENST00000447027.1_Missense_Mutation_p.W3893C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3890	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.W3845C(1)|p.W3890C(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGTGTGGATCAGCACAA	0.647																																																	2	Substitution - Missense(2)	cervix(2)											121	146	137					11																	1269780		2108	4212	6320	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11670G>C	11.37:g.1269780G>C	ENSP00000436812:p.Trp3890Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.W3893C	ENST00000529681.1	37	c.11679	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	0.956	-0.704801	0.03255	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22134	1.97;2.15	0.49	0.49	0.16861	.	.	.	.	.	T	0.10337	0.0253	N	0.24115	0.695	0.09310	N	1	P;B	0.37101	0.582;0.428	B;B	0.23018	0.043;0.03	T	0.19712	-1.0297	8	0.87932	D	0	.	.	.	.	.	4418;3893	A7Y9J9;E9PBJ0	.;.	C	3890;3893;3834;3795	ENSP00000436812:W3890C;ENSP00000415793:W3893C	ENSP00000343037:W3834C	W	+	3	0	MUC5B	1226356	0.031000	0.19500	0.006000	0.13384	0.010000	0.07245	-0.345000	0.07770	0.510000	0.28216	0.194000	0.17425	TGG	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269780	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.008	C	C	1269780	G	C	1269780	3	2	58	1	0	0	0	0	1	0	0	0	10002	1183	41	1	11801	1	MUC5B	11	1269780	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	240837	1269780	133736736	739	8489										
TRIM21	6737	genome.wustl.edu	37	chr11	4411252	4411252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtactcctgtgcagcctCctcaagagggaccatggcgt	12	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:4411252C>G	ENST00000254436.7	-	2	500	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	TRIM21_ENST00000543625.1_Missense_Mutation_p.E130Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	130					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E130Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGTGCAGCCTCCTCAAGAGGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											48	49	48					11																	4411252		1997	4177	6174	SO:0001583	missense	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.388G>C	11.37:g.4411252C>G	ENSP00000254436:p.Glu130Gln		Q5XPV5|Q96RF8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E130Q	ENST00000254436.7	37	c.388	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.59772	0.24;0.24	4.32	4.32	0.51571	Zinc finger, B-box, chordata (1);	0.252520	0.28388	N	0.015537	T	0.74824	0.3767	M	0.92880	3.355	0.29983	N	0.817525	D	0.57899	0.981	P	0.52109	0.69	T	0.78473	-0.2190	10	0.87932	D	0	.	15.1289	0.72503	0.0:1.0:0.0:0.0	.	130	P19474	RO52_HUMAN	Q	130	ENSP00000254436:E130Q;ENSP00000444045:E130Q	ENSP00000254436:E130Q	E	-	1	0	TRIM21	4367828	0.187000	0.23238	0.970000	0.41538	0.357000	0.29423	1.990000	0.40717	2.691000	0.91804	0.561000	0.74099	GAG	TRIM21	-	prints_Znf_B-box_chordata		0.562	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	C	NM_003141		4411252	-1	no_errors	ENST00000254436	ensembl	human	known	70_37	missense	SNP	0.990	G	G	4411252	C	G	4411252	3	3	58	1	0	0	0	0	1	0	0	0	16526	864	30	1	1063	1	TRIM21	11	4411252	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3141472	4411252	130595264	740	8490										
OR51D1	390038	genome.wustl.edu	37	chr11	4661948	4661948	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctatggagccaagaccaaaGagatctgttcaagggtcctc	10	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:4661948G>C	ENST00000357605.2	+	1	1004	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E310Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGACCAAAGAGATCTGTTC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											83	82	82					11																	4661948		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.928G>C	11.37:g.4661948G>C	ENSP00000350222:p.Glu310Gln		B9EIK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E310Q	ENST00000357605.2	37	c.928	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287167	0.00248	.	.	ENSG00000197428	ENST00000357605	T	0.38240	1.15	4.7	2.65	0.31530	.	0.155743	0.30093	N	0.010437	T	0.09512	0.0234	N	0.00500	-1.43	0.37804	D	0.927818	B	0.12013	0.005	B	0.13407	0.009	T	0.34850	-0.9812	10	0.02654	T	1	.	12.699	0.57020	0.0:0.5075:0.4924:0.0	.	310	Q8NGF3	O51D1_HUMAN	Q	310	ENSP00000350222:E310Q	ENSP00000350222:E310Q	E	+	1	0	OR51D1	4618524	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	3.030000	0.49720	1.307000	0.44944	-0.302000	0.09304	GAG	OR51D1	-	prints_GPCR_Rhodpsn		0.493	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	G	NM_001004751		4661948	1	no_errors	ENST00000357605	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4661948	G	C	4661948	3	2	58	1	0	0	0	0	1	0	0	0	11117	943	33	1	930	1	OR51D1	11	4661948	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	250696	4661948	130344568	741	8491										
MMP26	56547	genome.wustl.edu	37	chr11	5013305	5013305	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttactggtatcacgaccctaGaaccttccagctcagtgccg	8	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:5013305G>C	ENST00000380390.1	+	6	923	c.707G>C	c.(706-708)aGa>aCa	p.R236T	MMP26_ENST00000300762.1_Missense_Mutation_p.R236T			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	236					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R236T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CACGACCCTAGAACCTTCCAG	0.488																																																	1	Substitution - Missense(1)	cervix(1)											87	78	81					11																	5013305		2201	4298	6499	SO:0001583	missense	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.707G>C	11.37:g.5013305G>C	ENSP00000369753:p.Arg236Thr		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.R236T	ENST00000380390.1	37	c.707	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.386560	0.01194	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20598	2.06;2.06	3.79	-2.49	0.06403	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.163330	0.06492	N	0.734756	T	0.12263	0.0298	L	0.28192	0.835	0.09310	N	1	B	0.12013	0.005	B	0.19391	0.025	T	0.37526	-0.9702	10	0.19590	T	0.45	0.5031	4.6435	0.12561	0.6192:0.0:0.2051:0.1756	.	236	Q9NRE1	MMP26_HUMAN	T	236	ENSP00000369753:R236T;ENSP00000300762:R236T	ENSP00000300762:R236T	R	+	2	0	MMP26	4969881	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.814000	0.27239	-0.366000	0.08064	0.561000	0.74099	AGA	MMP26	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	G	NM_021801		5013305	1	no_errors	ENST00000300762	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5013305	G	C	5013305	3	2	58	1	0	0	0	0	1	0	0	0	9686	942	33	1	725	1	MMP26	11	5013305	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	351357	5013305	129993211	742	8492										
OR52D1	390066	genome.wustl.edu	37	chr11	5510628	5510628	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctccatgcagtctttcatcTtccatctcatgatgcccagc	5	16	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:5510628T>A	ENST00000322641.5	+	1	714	c.692T>A	c.(691-693)cTt>cAt	p.L231H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	231					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L231H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTTCATCTTCCATCTCAT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											229	200	210					11																	5510628		2201	4297	6498	SO:0001583	missense	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.692T>A	11.37:g.5510628T>A	ENSP00000326232:p.Leu231His		B9EGY9|Q6IFI6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L231H	ENST00000322641.5	37	c.692	CCDS31384.1	11	.	.	.	.	.	.	.	.	.	.	T	8.765	0.924508	0.18056	.	.	ENSG00000181609	ENST00000322641	T	0.00152	8.66	5.58	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00524	0.0017	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23190	-1.0195	10	0.87932	D	0	.	10.7702	0.46319	0.0:0.0744:0.0:0.9256	.	231	Q9H346	O52D1_HUMAN	H	231	ENSP00000326232:L231H	ENSP00000326232:L231H	L	+	2	0	OR52D1	5467204	0.565000	0.26610	0.004000	0.12327	0.003000	0.03518	2.171000	0.42453	1.132000	0.42129	-0.263000	0.10527	CTT	OR52D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	HGNC	protein_coding	OTTHUMT00000143372.1	T	NM_001005163		5510628	1	no_errors	ENST00000322641	ensembl	human	known	70_37	missense	SNP	0.001	A	A	5510628	T	A	5510628	3	1	58	1	0	0	0	0	1	0	0	0	11138	1609	56	5	694	5	OR52D1	11	5510628	Missense_Mutation	SNP	T	TCGA-DR-A0ZM-01A-12D-A10S-08	497323	5510628	129495888	743	8493										
OR52N1	79473	genome.wustl.edu	37	chr11	5809764	5809764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcgaggcaggctttaaaatCaatctccttgagattaaacc	9	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:5809764C>T	ENST00000317078.1	-	1	282	c.283G>A	c.(283-285)Gat>Aat	p.D95N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D95N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCTTTAAAATCAATCTCCTTG	0.502																																																	1	Substitution - Missense(1)	cervix(1)											144	136	139					11																	5809764		2201	4296	6497	SO:0001583	missense	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.283G>A	11.37:g.5809764C>T	ENSP00000322823:p.Asp95Asn		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.D95N	ENST00000317078.1	37	c.283	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717122	0.15372	.	.	ENSG00000181001	ENST00000317078	T	0.36340	1.26	4.59	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000098	T	0.18509	0.0444	N	0.20807	0.61	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.07520	-1.0768	10	0.33141	T	0.24	.	3.1461	0.06472	0.2014:0.5448:0.0:0.2538	.	95	Q8NH53	O52N1_HUMAN	N	95	ENSP00000322823:D95N	ENSP00000322823:D95N	D	-	1	0	OR52N1	5766340	0.000000	0.05858	0.607000	0.28956	0.841000	0.47740	-2.659000	0.00852	1.274000	0.44362	0.609000	0.83330	GAT	OR52N1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	C	NM_001001913		5809764	-1	no_errors	ENST00000317078	ensembl	human	known	70_37	missense	SNP	0.064	T	T	5809764	C	T	5809764	3	4	58	1	0	0	0	0	1	0	0	0	11151	826	29	1	682	1	OR52N1	11	5809764	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	299136	5809764	129196752	744	8494										
DCHS1	8642	genome.wustl.edu	37	chr11	6652990	6652990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgcacctgcaccaggagctGatagctgctctgctgctcac	10	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:6652990G>C	ENST00000299441.3	-	7	3943	c.3532C>G	c.(3532-3534)Cag>Gag	p.Q1178E	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1178	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1178E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGGAGCTGATAGCTGCTC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											64	56	59					11																	6652990		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3532C>G	11.37:g.6652990G>C	ENSP00000299441:p.Gln1178Glu		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1178E	ENST00000299441.3	37	c.3532	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766048	0.49574	.	.	ENSG00000166341	ENST00000299441	T	0.01685	4.69	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000660	T	0.01523	0.0049	N	0.11284	0.12	0.58432	D	0.99999	P	0.42456	0.78	B	0.42386	0.386	T	0.59920	-0.7363	10	0.02654	T	1	.	17.9063	0.88919	0.0:0.0:1.0:0.0	.	1178	Q96JQ0	PCD16_HUMAN	E	1178	ENSP00000299441:Q1178E	ENSP00000299441:Q1178E	Q	-	1	0	DCHS1	6609566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.237000	0.72345	2.711000	0.92665	0.655000	0.94253	CAG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6652990	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6652990	G	C	6652990	3	2	58	1	0	0	0	0	1	0	0	0	4292	1299	45	1	6424	1	DCHS1	11	6652990	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	843226	6652990	128353526	745	8495										
TUB	7275	genome.wustl.edu	37	chr11	8119290	8119290	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggcgggaaggaagagaaaGaagagtaaaacttccaatta	12	5	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:8119290G>C	ENST00000299506.2	+	8	1064	c.915G>C	c.(913-915)aaG>aaC	p.K305N	TUB_ENST00000305253.4_Missense_Mutation_p.K360N|TUB_ENST00000534099.1_Missense_Mutation_p.K311N	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	305					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.K360N(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAAGAGAAAGAAGAGTAAAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											152	161	158					11																	8119290		2201	4296	6497	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.915G>C	11.37:g.8119290G>C	ENSP00000299506:p.Lys305Asn		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.K360N	ENST00000299506.2	37	c.1080	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938996	0.73557	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97256	-4.31;-4.31;-4.31	4.7	4.7	0.59300	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.997	D	0.99748	1.1017	10	0.87932	D	0	-4.021	17.9944	0.89178	0.0:0.0:1.0:0.0	.	311;305;360	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	N	311;360;305	ENSP00000434400:K311N;ENSP00000305426:K360N;ENSP00000299506:K305N	ENSP00000299506:K305N	K	+	3	2	TUB	8075866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.145000	0.58065	2.327000	0.79052	0.585000	0.79938	AAG	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.517	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	G	NM_003320		8119290	1	no_errors	ENST00000305253	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8119290	G	C	8119290	3	2	58	1	0	0	0	0	1	0	0	0	16773	933	33	1	1156	1	TUB	11	8119290	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1466300	8119290	126887226	746	8496										
STK33	65975	genome.wustl.edu	37	chr11	8494730	8494730	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaatagcagctccattctCaatccttatgtgaggaactt	6	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:8494730C>G	ENST00000447869.1	-	2	1237	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	STK33_ENST00000396673.1_Missense_Mutation_p.E107Q|STK33_ENST00000315204.1_Missense_Mutation_p.E107Q|STK33_ENST00000358872.3_Intron|STK33_ENST00000534493.1_Missense_Mutation_p.E66Q|STK33_ENST00000396672.1_Missense_Mutation_p.E107Q			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	107					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E107Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GCTCCATTCTCAATCCTTATG	0.398																																																	2	Substitution - Missense(2)	cervix(2)											178	171	173					11																	8494730		2201	4296	6497	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.319G>C	11.37:g.8494730C>G	ENSP00000416750:p.Glu107Gln		Q658S6|Q8NEF5	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.E107Q	ENST00000447869.1	37	c.319	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499749	0.44455	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;D;D;D	0.82893	1.97;1.97;1.97;1.97;1.97;-0.56;-1.66;-1.66;-1.66	5.41	4.48	0.54585	Protein kinase-like domain (1);	0.574452	0.18343	N	0.144109	T	0.70736	0.3258	N	0.14661	0.345	0.27344	N	0.956432	B	0.31125	0.309	B	0.29942	0.109	T	0.63198	-0.6691	10	0.40728	T	0.16	.	13.7548	0.62930	0.0:0.8447:0.1553:0.0	.	107	Q9BYT3	STK33_HUMAN	Q	107;107;107;107;66;57;66;66;107	ENSP00000416750:E107Q;ENSP00000320754:E107Q;ENSP00000379905:E107Q;ENSP00000379906:E107Q;ENSP00000436418:E66Q;ENSP00000436905:E57Q;ENSP00000391362:E66Q;ENSP00000411510:E66Q;ENSP00000403599:E107Q	ENSP00000320754:E107Q	E	-	1	0	STK33	8451306	1.000000	0.71417	0.937000	0.37676	0.743000	0.42351	3.422000	0.52749	1.247000	0.43917	0.585000	0.79938	GAG	STK33	-	superfamily_Kinase-like_dom		0.398	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	C	NM_030906		8494730	-1	no_errors	ENST00000315204	ensembl	human	known	70_37	missense	SNP	0.997	G	G	8494730	C	G	8494730	3	3	58	1	0	0	0	0	1	0	0	0	15330	835	29	1	1269	1	STK33	11	8494730	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	375440	8494730	126511786	747	8497										
MRVI1	10335	genome.wustl.edu	37	chr11	10653569	10653569	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggaggcagtggacaccttCaagtgtcggtgagaaagcct	15	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:10653569C>G	ENST00000436272.1	-	3	420	c.342G>C	c.(340-342)ttG>ttC	p.L114F	MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.L114F|MRVI1_ENST00000531107.1_Missense_Mutation_p.L114F|MRVI1_ENST00000423302.2_Missense_Mutation_p.L123F|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.L32F|MRVI1_ENST00000527509.2_Missense_Mutation_p.L32F|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.L123F|MRVI1_ENST00000547195.1_Missense_Mutation_p.L32F			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	114					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.L114F(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACACCTTCAAGTGTCGGT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											86	89	88					11																	10653569		2061	4195	6256	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.342G>C	11.37:g.10653569C>G	ENSP00000412229:p.Leu114Phe		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.L114F	ENST00000436272.1	37	c.342		11	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925238	0.34002	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.15256	3.04;3.04;2.45;2.45;2.87;2.44;3.04;2.45	4.72	3.81	0.43845	.	0.345782	0.20662	N	0.088017	T	0.14227	0.0344	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.49090	0.904;0.868;0.868;0.919	P;B;B;B	0.47573	0.55;0.23;0.23;0.406	T	0.03394	-1.1041	10	0.48119	T	0.1	-6.1236	5.9033	0.18978	0.1884:0.7153:0.0:0.0963	.	123;114;114;114	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	F	114;115;114;32;32;123;123;114;32	ENSP00000414598:L114F;ENSP00000412229:L114F;ENSP00000448278:L32F;ENSP00000446764:L32F;ENSP00000412130:L123F;ENSP00000437784:L123F;ENSP00000432436:L114F;ENSP00000432067:L32F	ENSP00000307885:L115F	L	-	3	2	MRVI1	10610145	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.072000	0.30678	1.212000	0.43366	-0.258000	0.10820	TTG	MRVI1	-	NULL		0.483	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		C	NM_001098579		10653569	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10653569	C	G	10653569	3	3	58	1	0	0	0	0	1	0	0	0	9876	825	29	1	2441	1	MRVI1	11	10653569	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2158839	10653569	124352947	748	8498										
CTR9	9646	genome.wustl.edu	37	chr11	10795563	10795563	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttgtttggattttagcgttCtaagaagggaggagagtttg	15	2	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:10795563C>G	ENST00000361367.2	+	22	3158	c.2732C>G	c.(2731-2733)tCt>tGt	p.S911C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	911	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.S911C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTTTAGCGTTCTAAGAAGGGA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											160	153	155					11																	10795563		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2732C>G	11.37:g.10795563C>G	ENSP00000355013:p.Ser911Cys		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S911C	ENST00000361367.2	37	c.2732	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404564	0.62288	.	.	ENSG00000198730	ENST00000361367	T	0.49720	0.77	5.93	5.93	0.95920	.	0.108407	0.64402	D	0.000003	T	0.52008	0.1708	N	0.08118	0	0.47949	D	0.999558	D	0.69078	0.997	D	0.70935	0.971	T	0.60821	-0.7187	10	0.56958	D	0.05	-14.225	20.3539	0.98825	0.0:1.0:0.0:0.0	.	911	Q6PD62	CTR9_HUMAN	C	911	ENSP00000355013:S911C	ENSP00000355013:S911C	S	+	2	0	CTR9	10752139	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.359000	0.66074	2.826000	0.97356	0.655000	0.94253	TCT	CTR9	-	NULL		0.393	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	C	NM_014633		10795563	1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10795563	C	G	10795563	3	3	58	1	0	0	0	0	1	0	0	0	4029	913	32	1	2818	1	CTR9	11	10795563	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	141994	10795563	124210953	749	8499										
ABCC8	6833	genome.wustl.edu	37	chr11	17429944	17429944	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctggatatacccaccttctCcagctcttggtcctgtcggt	8	15	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:17429944C>G	ENST00000389817.3	-	23	2883	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.E940Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	939					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.E939Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCCACCTTCTCCAGCTCTTGG	0.547																																																	1	Substitution - Missense(1)	cervix(1)											91	84	86					11																	17429944		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2815G>C	11.37:g.17429944C>G	ENSP00000374467:p.Glu939Gln		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E940Q	ENST00000389817.3	37	c.2818	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023300	0.54683	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.92495	-3.05;-3.04	6.04	5.13	0.70059	.	0.056050	0.64402	D	0.000001	D	0.89639	0.6773	L	0.56280	1.765	0.51482	D	0.999924	B	0.25563	0.129	B	0.29524	0.103	D	0.85731	0.1331	10	0.36615	T	0.2	.	13.0581	0.58992	0.0:0.9267:0.0:0.0733	.	939	Q09428	ABCC8_HUMAN	Q	939;940;943	ENSP00000374467:E939Q;ENSP00000303960:E940Q	ENSP00000303960:E940Q	E	-	1	0	ABCC8	17386520	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.595000	0.61048	2.873000	0.98535	0.563000	0.77884	GAG	ABCC8	-	NULL		0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	C	NM_000352		17429944	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17429944	C	G	17429944	3	3	58	1	0	0	0	0	1	0	0	0	58	864	30	1	1998	1	ABCC8	11	17429944	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6634381	17429944	117576572	750	8500										
KCNC1	3746	genome.wustl.edu	37	chr11	17793718	17793718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccttgggcgtgctgatcttCgccaccatgatctactacgc	10	14	2	2	rs551647578		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:17793718C>T	ENST00000379472.3	+	2	1107	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	KCNC1_ENST00000265969.6_Silent_p.F359F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	359					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.F359F(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGCTGATCTTCGCCACCATGA	0.607													C|||	1	0.000199681	0	0	5008	,	,		19529	0		0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	cervix(2)											49	46	47					11																	17793718		2200	4293	6493	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1077C>T	11.37:g.17793718C>T			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.F359	ENST00000379472.3	37	c.1077	CCDS7827.1	11																																																																																			KCNC1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.607	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	C	NM_004976		17793718	1	no_errors	ENST00000265969	ensembl	human	known	70_37	silent	SNP	0.992	T	T	17793718	C	T	17793718	2	4	58	1	0	0	0	0	0	0	0	1	8034	883	31	1		1	KCNC1	11	17793718	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	363774	17793718	117212798	751	8501										
SPTY2D1	144108	genome.wustl.edu	37	chr11	18636241	18636241	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taggctttatagtgggacctGagctactaactgtttgccca	10	9	0	1	rs569563128		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:18636241G>A	ENST00000336349.5	-	3	1815	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	527	Ser-rich.							p.S527L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGTGGGACCTGAGCTACTAAC	0.473													G|||	1	0.000199681	0	0	5008	,	,		18159	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											67	66	67					11																	18636241		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1580C>T	11.37:g.18636241G>A	ENSP00000337991:p.Ser527Leu		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.S527L	ENST00000336349.5	37	c.1580	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544600	0.65198	.	.	ENSG00000179119	ENST00000336349	T	0.37058	1.22	6.08	5.17	0.71159	.	0.480260	0.21938	N	0.066933	T	0.42040	0.1185	L	0.52364	1.645	0.39577	D	0.969372	D	0.59357	0.985	P	0.50314	0.637	T	0.29397	-1.0013	10	0.30854	T	0.27	-0.1249	13.5588	0.61777	0.1297:0.0:0.8703:0.0	.	527	Q68D10	SPT2_HUMAN	L	527	ENSP00000337991:S527L	ENSP00000337991:S527L	S	-	2	0	SPTY2D1	18592817	1.000000	0.71417	0.984000	0.44739	0.771000	0.43674	2.838000	0.48199	1.582000	0.49881	0.655000	0.94253	TCA	SPTY2D1	-	NULL		0.473	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	G	NM_194285		18636241	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18636241	G	A	18636241	3	1	58	1	0	0	0	0	1	0	0	0	15156	1294	45	1	493	1	SPTY2D1	11	18636241	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	842523	18636241	116370275	752	8502										
CAT	847	genome.wustl.edu	37	chr11	34472557	34472557	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctttggctactttgaggtCacacatgacattaccaaata	7	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:34472557C>T	ENST00000241052.4	+	3	350	c.261C>T	c.(259-261)gtC>gtT	p.V87V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	87					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V87V(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTTTGAGGTCACACATGACA	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											235	226	229					11																	34472557		2202	4298	6500	SO:0001819	synonymous_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.261C>T	11.37:g.34472557C>T			A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.V87	ENST00000241052.4	37	c.261	CCDS7891.1	11																																																																																			CAT	-	pfam_Catalase_core,superfamily_Catalase-like_dom		0.458	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	C	NM_001752		34472557	1	no_errors	ENST00000241052	ensembl	human	known	70_37	silent	SNP	0.989	T	T	34472557	C	T	34472557	2	4	58	1	0	0	0	0	0	0	0	1	2691	813	29	1		1	CAT	11	34472557	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	15836316	34472557	100533959	753	8503										
PRR5L	79899	genome.wustl.edu	37	chr11	36472765	36472765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgttcattttccagagtgttCacgagcccacaggcccaagt	9	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:36472765C>T	ENST00000378867.3	+	9	947	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.H198Y|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.H125Y	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	198					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.H198Y(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCAGAGTGTTCACGAGCCCAC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											170	157	162					11																	36472765		2202	4298	6500	SO:0001583	missense	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.592C>T	11.37:g.36472765C>T	ENSP00000368144:p.His198Tyr		A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.H198Y	ENST00000378867.3	37	c.592	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049026	0.75846	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.36157	1.27;1.5;1.27	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.80982	2.52	0.58432	D	0.999995	D;D	0.71674	0.989;0.998	D;D	0.77557	0.979;0.99	T	0.69815	-0.5043	10	0.87932	D	0	-17.9831	17.9793	0.89136	0.0:1.0:0.0:0.0	.	70;198	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	Y	198;125;198	ENSP00000435050:H198Y;ENSP00000310103:H125Y;ENSP00000368144:H198Y	ENSP00000310103:H125Y	H	+	1	0	PRR5L	36429341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.758000	0.68776	2.345000	0.79718	0.313000	0.20887	CAC	PRR5L	-	NULL		0.502	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	C	NM_024841		36472765	1	no_errors	ENST00000378867	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36472765	C	T	36472765	3	4	58	1	0	0	0	0	1	0	0	0	12629	826	29	1	624	1	PRR5L	11	36472765	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2000208	36472765	98533751	754	8504										
OR4A16	81327	genome.wustl.edu	37	chr11	55111137	55111137	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gattggaggttttgtgcactCtgtggttcaaattgtctttc	11	6	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:55111137C>G	ENST00000314721.2	+	1	511	c.461C>G	c.(460-462)tCt>tGt	p.S154C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S154C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTGTGCACTCTGTGGTTCAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											194	174	180					11																	55111137		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.461C>G	11.37:g.55111137C>G	ENSP00000325128:p.Ser154Cys		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S154C	ENST00000314721.2	37	c.461	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	c	7.583	0.669087	0.14776	.	.	ENSG00000181961	ENST00000314721	T	0.44482	0.92	2.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64204	0.2577	M	0.88906	2.99	0.09310	N	1	D	0.71674	0.998	D	0.73380	0.98	T	0.52049	-0.8627	9	0.87932	D	0	.	5.5471	0.17069	0.0:0.8411:0.0:0.1589	.	154	Q8NH70	O4A16_HUMAN	C	154	ENSP00000325128:S154C	ENSP00000325128:S154C	S	+	2	0	OR4A16	54867713	0.000000	0.05858	0.008000	0.14137	0.040000	0.13550	0.249000	0.18216	1.509000	0.48786	0.423000	0.28283	TCT	OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	C	NM_001005274		55111137	1	no_errors	ENST00000314721	ensembl	human	known	70_37	missense	SNP	0.004	G	G	55111137	C	G	55111137	3	3	58	1	0	0	0	0	1	0	0	0	11065	913	32	1	463	1	OR4A16	11	55111137	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	18638372	55111137	79895379	755	8505										
OR5T3	390154	genome.wustl.edu	37	chr11	56020545	56020545	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acaattctcgtcagttatatGagaccaagttccagctatgc	7	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:56020545G>C	ENST00000303059.3	+	1	870	c.870G>C	c.(868-870)atG>atC	p.M290I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M290I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											155	140	145					11																	56020545		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.870G>C	11.37:g.56020545G>C	ENSP00000305403:p.Met290Ile		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M290I	ENST00000303059.3	37	c.870	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	4.767	0.142552	0.09083	.	.	ENSG00000172489	ENST00000303059	T	0.34859	1.34	4.46	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	1.468750	0.04322	N	0.350874	T	0.26484	0.0647	N	0.11870	0.19	0.19775	N	0.999956	B	0.12630	0.006	B	0.22152	0.038	T	0.22941	-1.0202	10	0.51188	T	0.08	.	9.1281	0.36828	0.0817:0.1478:0.7704:0.0	.	290	Q8NGG3	OR5T3_HUMAN	I	290	ENSP00000305403:M290I	ENSP00000305403:M290I	M	+	3	0	OR5T3	55777121	0.000000	0.05858	0.067000	0.19924	0.051000	0.14879	-0.928000	0.03980	1.219000	0.43474	0.643000	0.83706	ATG	OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	G	NM_001004747		56020545	1	no_errors	ENST00000303059	ensembl	human	known	70_37	missense	SNP	0.411	C	C	56020545	G	C	56020545	3	2	58	1	0	0	0	0	1	0	0	0	11207	1290	45	1	872	1	OR5T3	11	56020545	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	909408	56020545	78985971	756	8506										
TIMM10	26519	genome.wustl.edu	37	chr11	57296203	57296203	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggacctcatgcaggcccaGagctctgctgcaccctcttc	10	16	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:57296203G>C	ENST00000257245.4	-	3	412	c.260C>G	c.(259-261)tCt>tGt	p.S87C	TIMM10_ENST00000525587.1_Missense_Mutation_p.S87C|TIMM10_ENST00000525158.1_Missense_Mutation_p.S87C	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	87					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S87C(1)		cervix(1)|large_intestine(2)	3						TGCAGGCCCAGAGCTCTGCTG	0.522																																																	1	Substitution - Missense(1)	cervix(1)											134	119	124					11																	57296203		2201	4296	6497	SO:0001583	missense	26519			AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"translocase of inner mitochondrial membrane 10 (yeast) homolog"			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.260C>G	11.37:g.57296203G>C	ENSP00000257245:p.Ser87Cys		A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Missense_Mutation	SNP	pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like	p.S87C	ENST00000257245.4	37	c.260	CCDS7959.1	11	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344919	0.41498	.	.	ENSG00000134809	ENST00000257245;ENST00000525587;ENST00000525158	T;T;T	0.50277	0.75;0.75;0.75	5.95	5.95	0.96441	.	0.263702	0.41823	D	0.000818	T	0.39545	0.1082	.	.	.	0.30937	N	0.726208	B	0.28760	0.221	B	0.27170	0.077	T	0.48163	-0.9059	9	0.54805	T	0.06	-16.1245	13.2242	0.59905	0.0731:0.0:0.9269:0.0	.	87	P62072	TIM10_HUMAN	C	87	ENSP00000257245:S87C;ENSP00000435678:S87C;ENSP00000433627:S87C	ENSP00000257245:S87C	S	-	2	0	TIMM10	57052779	0.997000	0.39634	1.000000	0.80357	0.680000	0.39746	3.564000	0.53791	2.826000	0.97356	0.563000	0.77884	TCT	TIMM10	-	NULL		0.522	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM10	HGNC	protein_coding	OTTHUMT00000392595.1	G	NM_012456		57296203	-1	no_errors	ENST00000257245	ensembl	human	known	70_37	missense	SNP	0.743	C	C	57296203	G	C	57296203	3	2	58	1	0	0	0	0	1	0	0	0	15935	942	33	1	16	1	TIMM10	11	57296203	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1275658	57296203	77710313	757	8507										
MED19	219541	genome.wustl.edu	37	chr11	57472622	57472622	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttagcttctccttcaccttCttcccacagaatttattata	2	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:57472622C>T	ENST00000431606.2	-	2	326	c.297G>A	c.(295-297)aaG>aaA	p.K99K	MED19_ENST00000337672.2_Silent_p.K99K			A0JLT2	MED19_HUMAN	mediator complex subunit 19	99						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K99K(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						CCTTCACCTTCTTCCCACAGA	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											95	94	95					11																	57472622		2201	4296	6497	SO:0001819	synonymous_variant	219541			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.297G>A	11.37:g.57472622C>T			Q8IV02|Q8IZD1	Silent	SNP	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.K99	ENST00000431606.2	37	c.297		11																																																																																			MED19	-	pfam_Mediator_Med19_met		0.468	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	C	NM_153450		57472622	-1	no_errors	ENST00000431606	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57472622	C	T	57472622	2	4	58	1	0	0	0	0	0	0	0	1	9460	912	32	1		1	MED19	11	57472622	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	176419	57472622	77533894	758	8508										
ZFP91	80829	genome.wustl.edu	37	chr11	58378523	58378523	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agacctacaaaccccacttaGaaaggcatgtctcagatttt	6	11	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:58378523G>C	ENST00000316059.6	+	5	889	c.718G>C	c.(718-720)Gaa>Caa	p.E240Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E240Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	240	Glu-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.E240Q(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACCCCACTTAGAAAGGCATGT	0.388																																																	2	Substitution - Missense(2)	cervix(2)											129	109	116					11																	58378523		2201	4295	6496	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.718G>C	11.37:g.58378523G>C	ENSP00000339030:p.Glu240Gln		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E240Q	ENST00000316059.6	37	c.718	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067851	0.55539	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11063	2.81	5.33	5.33	0.75918	.	13.843800	0.00166	N	0.000008	T	0.14184	0.0343	N	0.24115	0.695	0.37412	D	0.91326	B;B	0.25312	0.123;0.075	B;B	0.24974	0.057;0.026	T	0.23940	-1.0174	10	0.48119	T	0.1	-18.5775	17.9574	0.89073	0.0:0.0:1.0:0.0	.	240;240	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	240	ENSP00000339030:E240Q	ENSP00000374569:E240Q	E	+	1	0	ZFP91	58135099	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.771000	0.95319	0.650000	0.86243	GAA	ZFP91	-	NULL		0.388	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	G	NM_053023		58378523	1	no_errors	ENST00000316059	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58378523	G	C	58378523	3	2	58	1	0	0	0	0	1	0	0	0	17685	943	33	1	736	1	ZFP91	11	58378523	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	905901	58378523	76627993	759	8509										
TMEM132A	54972	genome.wustl.edu	37	chr11	60702840	60702840	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgggcatctcgctgaccttGagccggggcactgcccaccc	12	16	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:60702840G>C	ENST00000453848.2	+	10	2111	c.1953G>C	c.(1951-1953)ttG>ttC	p.L651F	TMEM132A_ENST00000005286.4_Missense_Mutation_p.L652F			Q24JP5	T132A_HUMAN	transmembrane protein 132A	651	Binds to HSPA5/GRP78. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L652F(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGCTGACCTTGAGCCGGGGCA	0.662																																																	2	Substitution - Missense(2)	cervix(2)											35	31	32					11																	60702840		2203	4298	6501	SO:0001583	missense	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1953G>C	11.37:g.60702840G>C	ENSP00000405823:p.Leu651Phe		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.L652F	ENST00000453848.2	37	c.1956	CCDS44618.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627558|2.627558	0.46944|0.46944	.|.	.|.	ENSG00000006118|ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480|ENST00000540112	T;T;T|.	0.62105|.	0.05;0.05;1.64|.	5.05|5.05	3.03|3.03	0.35002|0.35002	.|.	0.101577|.	0.37623|.	N|.	0.002011|.	T|.	0.65801|.	0.2726|.	M|M	0.81112|0.81112	2.525|2.525	0.36605|0.36605	D|D	0.874869|0.874869	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76575|.	0.982;0.988|.	T|.	0.70223|.	-0.4931|.	10|.	0.87932|.	D|.	0|.	.|.	5.9677|5.9677	0.19334|0.19334	0.1842:0.1555:0.6602:0.0|0.1842:0.1555:0.6602:0.0	.|.	651;652|.	Q24JP5;Q24JP5-2|.	T132A_HUMAN;.|.	F|S	402;651;652;17|80	ENSP00000405823:L651F;ENSP00000005286:L652F;ENSP00000439716:L17F|.	ENSP00000005286:L652F|.	L|X	+|+	3|2	2|2	TMEM132A|TMEM132A	60459416|60459416	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.810000|0.810000	0.45777|0.45777	0.917000|0.917000	0.28665|0.28665	1.146000|1.146000	0.42352|0.42352	0.462000|0.462000	0.41574|0.41574	TTG|TGA	TMEM132A	-	NULL		0.662	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	G	NM_017870		60702840	1	no_errors	ENST00000005286	ensembl	human	known	70_37	missense	SNP	0.992	C	C	60702840	G	C	60702840	3	2	58	1	0	0	0	0	1	0	0	0	16075	1281	45	1	1994	1	TMEM132A	11	60702840	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2324317	60702840	74303676	760	8510										
SLC22A9	114571	genome.wustl.edu	37	chr11	63138626	63138626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgggatctggtatgtgactCtcaatcactgacttcagtgg	12	8	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:63138626C>T	ENST00000279178.3	+	2	671	c.422C>T	c.(421-423)tCt>tTt	p.S141F	SLC22A9_ENST00000310969.4_Missense_Mutation_p.S141F	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	141					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.S141F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTATGTGACTCTCAATCACTG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											164	150	155					11																	63138626		2201	4298	6499	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.422C>T	11.37:g.63138626C>T	ENSP00000279178:p.Ser141Phe		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S141F	ENST00000279178.3	37	c.422	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436677	0.12104	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.79845	-1.31;-0.26	3.28	-0.0783	0.13715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.729672	0.12760	N	0.441402	T	0.68118	0.2966	L	0.47190	1.495	0.09310	N	1	B	0.20459	0.045	B	0.29598	0.104	T	0.50136	-0.8863	10	0.12103	T	0.63	.	2.9049	0.05718	0.3121:0.4438:0.0:0.2441	.	141	Q8IVM8	S22A9_HUMAN	F	141	ENSP00000311527:S141F;ENSP00000279178:S141F	ENSP00000279178:S141F	S	+	2	0	SLC22A9	62895202	0.000000	0.05858	0.684000	0.30055	0.622000	0.37654	-0.977000	0.03782	0.247000	0.21414	0.134000	0.15878	TCT	SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.443	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	C	NM_080866		63138626	1	no_errors	ENST00000279178	ensembl	human	known	70_37	missense	SNP	0.022	T	T	63138626	C	T	63138626	3	4	58	1	0	0	0	0	1	0	0	0	14491	913	32	1	428	1	SLC22A9	11	63138626	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2435786	63138626	71867890	761	8511										
RTN3	10313	genome.wustl.edu	37	chr11	63486746	63486746	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttattgacaaagcagcatttGacaaagaatttaaagactca	6	6	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:63486746G>A	ENST00000377819.5	+	3	926	c.772G>A	c.(772-774)Gac>Aac	p.D258N	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D146N|RTN3_ENST00000339997.4_Missense_Mutation_p.D239N|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	258					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D239N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGCAGCATTTGACAAAGAATT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											72	75	74					11																	63486746		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.772G>A	11.37:g.63486746G>A	ENSP00000367050:p.Asp258Asn		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D258N	ENST00000377819.5	37	c.772	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514685	0.85389	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.16743	2.32;2.32;2.32	5.98	5.98	0.97165	.	0.278351	0.30556	N	0.009369	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.01276	-1.1398	10	0.87932	D	0	-19.3294	15.9521	0.79846	0.0:0.0:1.0:0.0	.	146;258;239	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	N	258;239;146	ENSP00000367050:D258N;ENSP00000344106:D239N;ENSP00000442733:D146N	ENSP00000344106:D239N	D	+	1	0	RTN3	63243322	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.656000	0.67988	2.838000	0.97847	0.591000	0.81541	GAC	RTN3	-	NULL		0.358	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	G	NM_006054		63486746	1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63486746	G	A	63486746	3	1	58	1	0	0	0	0	1	0	0	0	13757	1290	45	1	782	1	RTN3	11	63486746	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	348120	63486746	71519770	762	8512										
FERMT3	83706	genome.wustl.edu	37	chr11	63990556	63990556	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagacgagatcctgggcatCgccaacaaccgactgatccg	10	13	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:63990556C>T	ENST00000279227.5	+	14	1814	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Silent_p.I569I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	573					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.I573I(1)|p.I569I(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TCCTGGGCATCGCCAACAACC	0.622																																																	2	Substitution - coding silent(2)	cervix(2)											106	81	89					11																	63990556		2201	4297	6498	SO:0001819	synonymous_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1719C>T	11.37:g.63990556C>T			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I573	ENST00000279227.5	37	c.1719	CCDS8060.1	11																																																																																			FERMT3	-	NULL		0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	C	NM_031471		63990556	1	no_errors	ENST00000279227	ensembl	human	known	70_37	silent	SNP	0.611	T	T	63990556	C	T	63990556	2	4	58	1	0	0	0	0	0	0	0	1	5837	874	31	1		1	FERMT3	11	63990556	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	503810	63990556	71015960	763	8513										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64609203	64609203	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccctctgcctcaccacggtGacctaaggccacagggagga	11	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:64609203G>A	ENST00000342711.5	-	3	254	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.V85V(1)		central_nervous_system(1)|lung(3)	4						TCACCACGGTGACCTAAGGCC	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											118	118	118					11																	64609203		2201	4297	6498	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.255C>T	11.37:g.64609203G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.V85	ENST00000342711.5	37	c.255	CCDS31601.1	11																																																																																			CDC42BPG	-	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		0.622	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64609203	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	silent	SNP	0.164	A	A	64609203	G	A	64609203	2	1	58	1	0	0	0	0	0	0	0	1	3079	1277	45	1		1	CDC42BPG	11	64609203	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	618647	64609203	70397313	764	8514										
C11orf2	738	genome.wustl.edu	37	chr11	64864556	64864556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctctagacagcgacatgcaGaccctggtctatgagaacta	10	11	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:64864556G>C	ENST00000279281.3	+	2	407	c.315G>C	c.(313-315)caG>caC	p.Q105H		NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	105					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q105H(1)									GCGACATGCAGACCCTGGTCT	0.572																																																	1	Substitution - Missense(1)	cervix(1)											54	43	47					11																	64864556		2201	4296	6497	SO:0001583	missense	738			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.315G>C	11.37:g.64864556G>C	ENSP00000279281:p.Gln105His		Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.Q105H	ENST00000279281.3	37	c.315	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580032	0.86645	.	.	ENSG00000149823	ENST00000528588;ENST00000530773;ENST00000279281;ENST00000529180;ENST00000526578;ENST00000534557	.	.	.	5.19	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83013	-0.0171	9	0.59425	D	0.04	-12.214	11.2786	0.49181	0.0882:0.0:0.9118:0.0	.	105	Q9UID3	FFR_HUMAN	H	135;105;105;105;19;19	.	ENSP00000279281:Q105H	Q	+	3	2	C11orf2	64621132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.215000	0.42862	1.425000	0.47237	0.655000	0.94253	CAG	VPS51	-	pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10		0.572	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	HGNC	protein_coding	OTTHUMT00000385217.1	G	NM_013265		64864556	1	no_errors	ENST00000279281	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64864556	G	C	64864556	3	2	58	1	0	0	0	0	1	0	0	0	1637	933	33	1	321	1	C11orf2	11	64864556	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	255353	64864556	70141960	765	8515										
SIPA1	6494	genome.wustl.edu	37	chr11	65417036	65417036	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccctgctctccccagctctCtgtcggatgaggccccagtc	9	19	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:65417036C>G	ENST00000394224.3	+	11	2826	c.2530C>G	c.(2530-2532)Ctg>Gtg	p.L844V	SIPA1_ENST00000394227.3_Missense_Mutation_p.L742V|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.L742V|SIPA1_ENST00000534313.1_Missense_Mutation_p.L844V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	844					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)	p.L844V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCCCAGCTCTCTGTCGGATGA	0.642																																																	1	Substitution - Missense(1)	cervix(1)											71	74	73					11																	65417036		2201	4297	6498	SO:0001583	missense	6494			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2530C>G	11.37:g.65417036C>G	ENSP00000377771:p.Leu844Val		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L844V	ENST00000394224.3	37	c.2530	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523281	0.44866	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.38	3.45	0.39498	.	1.896250	0.03238	U	0.179987	T	0.75049	0.3797	N	0.24115	0.695	0.24015	N	0.99617	B;B	0.18741	0.03;0.018	B;B	0.21917	0.037;0.025	T	0.57470	-0.7806	10	0.17369	T	0.5	-8.3876	10.0958	0.42475	0.1999:0.8001:0.0:0.0	.	742;844	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	844;742;844;742	ENSP00000436269:L844V;ENSP00000433686:L742V;ENSP00000377771:L844V;ENSP00000377774:L742V	ENSP00000377771:L844V	L	+	1	2	SIPA1	65173612	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	1.786000	0.38694	0.930000	0.37217	0.462000	0.41574	CTG	SIPA1	-	NULL		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	C	NM_006747		65417036	1	no_errors	ENST00000394224	ensembl	human	known	70_37	missense	SNP	0.999	G	G	65417036	C	G	65417036	3	3	58	1	0	0	0	0	1	0	0	0	14358	912	32	1	2568	1	SIPA1	11	65417036	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	552480	65417036	69589480	766	8516										
SPTBN2	6712	genome.wustl.edu	37	chr11	66467041	66467041	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atggcagcatcagcagcctgGagtgtccctggcatctccgt	12	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:66467041G>C	ENST00000533211.1	-	18	3943	c.3612C>G	c.(3610-3612)ctC>ctG	p.L1204L	SPTBN2_ENST00000529997.1_Silent_p.L1204L|SPTBN2_ENST00000309996.2_Silent_p.L1204L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1204					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.L1204L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CAGCAGCCTGGAGTGTCCCTG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											100	94	96					11																	66467041		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3612C>G	11.37:g.66467041G>C			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1204	ENST00000533211.1	37	c.3612	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66467041	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	silent	SNP	0.623	C	C	66467041	G	C	66467041	2	2	58	1	0	0	0	0	0	0	0	1	15150	1161	41	1		1	SPTBN2	11	66467041	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1050005	66467041	68539475	767	8517										
ADRBK1	156	genome.wustl.edu	37	chr11	67044812	67044812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgagaagatcttttcccaGaagctgggtgagtatggcag	13	6	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67044812G>A	ENST00000308595.5	+	2	473	c.183G>A	c.(181-183)caG>caA	p.Q61Q	ADRBK1_ENST00000526285.1_Silent_p.Q61Q	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	61	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.Q61Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCTTTTCCCAGAAGCTGGGTG	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											91	85	87					11																	67044812		2200	4295	6495	SO:0001819	synonymous_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.183G>A	11.37:g.67044812G>A			B0ZBE1|Q13837|Q6GTT3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.Q61	ENST00000308595.5	37	c.183	CCDS8156.1	11																																																																																			ADRBK1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67044812	1	no_errors	ENST00000308595	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67044812	G	A	67044812	2	1	58	1	0	0	0	0	0	0	0	1	343	933	33	1		1	ADRBK1	11	67044812	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	577771	67044812	67961704	768	8518										
CORO1B	57175	genome.wustl.edu	37	chr11	67208821	67208821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tactgccaccagggtgccccGacgggggtcgatgatgcgca	15	13	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67208821G>A	ENST00000341356.5	-	5	729	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	CORO1B_ENST00000393893.1_Missense_Mutation_p.R207W|CORO1B_ENST00000453768.2_Missense_Mutation_p.R207W|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000545016.1_3'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	207					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)	p.R207W(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGTGCCCCGACGGGGGTCG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											118	102	107					11																	67208821		2200	4295	6495	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.619C>T	11.37:g.67208821G>A	ENSP00000340211:p.Arg207Trp		B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R207W	ENST00000341356.5	37	c.619	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253463	0.39797	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768	T;T;T	0.29917	4.99;4.99;1.55	4.56	1.44	0.22558	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.35320	N	0.003287	T	0.30355	0.0762	N	0.14661	0.345	0.50632	D	0.999888	D;P	0.64830	0.994;0.932	P;P	0.57468	0.821;0.821	T	0.09751	-1.0660	10	0.87932	D	0	-24.8257	12.7138	0.57103	0.0:0.0:0.4259:0.5741	.	207;207	E7EW44;Q9BR76	.;COR1B_HUMAN	W	207;207;234;207	ENSP00000377471:R207W;ENSP00000340211:R207W;ENSP00000416006:R207W	ENSP00000340211:R207W	R	-	1	2	CORO1B	66965397	1.000000	0.71417	0.991000	0.47740	0.093000	0.18481	1.699000	0.37804	0.116000	0.18110	-0.169000	0.13324	CGG	CORO1B	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	G	NM_020441		67208821	-1	no_errors	ENST00000341356	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67208821	G	A	67208821	3	1	58	1	0	0	0	0	1	0	0	0	3759	1057	37	1	878	1	CORO1B	11	67208821	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	164009	67208821	67797695	769	8519										
GSTP1	2950	genome.wustl.edu	37	chr11	67353985	67353985	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcagtgcccggcccaagctCaaggccttcctggcctcccc	9	20	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67353985C>G	ENST00000398606.3	+	7	819	c.570C>G	c.(568-570)ctC>ctG	p.L190L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Silent_p.L154L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	190	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)	p.L190L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGCCCAAGCTCAAGGCCTTCC	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											37	39	39					11																	67353985		1996	4155	6151	SO:0001819	synonymous_variant	2950			U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.570C>G	11.37:g.67353985C>G			O00460|Q15690|Q5TZY3	Silent	SNP	pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi	p.L190	ENST00000398606.3	37	c.570	CCDS41679.1	11																																																																																			GSTP1	-	superfamily_Glutathione-S-Trfase_C-like		0.627	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTP1	HGNC	protein_coding	OTTHUMT00000268504.1	C	NM_000852		67353985	1	no_errors	ENST00000398606	ensembl	human	known	70_37	silent	SNP	1.000	G	G	67353985	C	G	67353985	2	3	58	1	0	0	0	0	0	0	0	1	6864	813	29	1		1	GSTP1	11	67353985	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	145164	67353985	67652531	770	8520										
LRP5	4041	genome.wustl.edu	37	chr11	68125245	68125245	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gactgaccatcgacctggagGagcagaagctctactgggct	13	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:68125245G>T	ENST00000294304.7	+	3	722	c.616G>T	c.(616-618)Gag>Tag	p.E206*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	206	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E206*(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGACCTGGAGGAGCAGAAGCT	0.622																																																	1	Substitution - Nonsense(1)	cervix(1)											79	61	67					11																	68125245		2200	4294	6494	SO:0001587	stop_gained	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.616G>T	11.37:g.68125245G>T	ENSP00000294304:p.Glu206*		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E206*	ENST00000294304.7	37	c.616	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959920	0.92791	.	.	ENSG00000162337	ENST00000294304	.	.	.	3.76	3.76	0.43208	.	0.000000	0.49305	U	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	ENSP00000294304:E206X	E	+	1	0	LRP5	67881821	0.998000	0.40836	1.000000	0.80357	0.805000	0.45488	2.673000	0.46858	2.407000	0.81776	0.455000	0.32223	GAG	LRP5	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68125245	1	no_errors	ENST00000294304	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	68125245	G	T	68125245	4	4	58	1	0	0	0	0	0	1	0	0	8983	1175	41	3	626	3	LRP5	11	68125245	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	771260	68125245	66881271	771	8521										
MTL5	9633	genome.wustl.edu	37	chr11	68512461	68512461	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tattaattaactttgtacctGactgtagataattattttga	5	4	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:68512461G>C	ENST00000255087.5	-	4	932	c.749C>G	c.(748-750)tCa>tGa	p.S250*	MTL5_ENST00000443940.2_Nonsense_Mutation_p.S250*|MTL5_ENST00000540869.1_Intron|MTL5_ENST00000544963.1_Nonsense_Mutation_p.S250*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	250					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S250*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTTGTACCTGACTGTAGATA	0.313																																																	1	Substitution - Nonsense(1)	cervix(1)											96	93	94					11																	68512461		2200	4290	6490	SO:0001587	stop_gained	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.749C>G	11.37:g.68512461G>C	ENSP00000255087:p.Ser250*		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Nonsense_Mutation	SNP	pfam_CRC,superfamily_Thionin	p.S250*	ENST00000255087.5	37	c.749	CCDS8184.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.262576	0.95399	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	.	.	.	5.35	5.35	0.76521	.	0.339143	0.21691	N	0.070573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-8.446	16.8394	0.85964	0.0:0.0:1.0:0.0	.	.	.	.	X	250	.	ENSP00000255087:S250X	S	-	2	0	MTL5	68269037	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.397000	0.66302	2.479000	0.83701	0.655000	0.94253	TCA	MTL5	-	NULL		0.313	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	G	NM_004923		68512461	-1	no_errors	ENST00000255087	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	68512461	G	C	68512461	4	2	58	1	0	0	0	0	0	1	0	0	9959	1294	45	1	809	1	MTL5	11	68512461	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	387216	68512461	66494055	772	8522										
SHANK2	22941	genome.wustl.edu	37	chr11	70333107	70333107	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagaggaaggccggggagttCctcctggcttccagccgctt	15	12	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:70333107C>T	ENST00000423696.2	-	15	2190	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	SHANK2_ENST00000449833.2_Silent_p.R502R|SHANK2_ENST00000409161.1_Silent_p.R501R|SHANK2_ENST00000338508.4_Silent_p.R1098R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	718					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R502R(3)|p.R1098R(3)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGGGGAGTTCCTCCTGGCTT	0.716																																																	6	Substitution - coding silent(6)	lung(4)|cervix(2)											21	26	25					11																	70333107		2162	4237	6399	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2154G>A	11.37:g.70333107C>T			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R1098	ENST00000423696.2	37	c.3294		11																																																																																			SHANK2	-	NULL		0.716	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		C	NM_012309		70333107	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	silent	SNP	0.999	T	T	70333107	C	T	70333107	2	4	58	1	0	0	0	0	0	0	0	1	14295	854	30	1		1	SHANK2	11	70333107	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1820646	70333107	64673409	773	8523										
C11orf59	55004	genome.wustl.edu	37	chr11	71814247	71814247	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctggtccgagtcctcgttCtcgctgctgtagcagcaccc	10	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:71814247C>G	ENST00000278671.5	-	1	186	c.24G>C	c.(22-24)gaG>gaC	p.E8D	LAMTOR1_ENST00000538404.1_Missense_Mutation_p.E8D|LAMTOR1_ENST00000535107.1_Missense_Mutation_p.E8D|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.E8D|snoU13_ENST00000459046.1_RNA|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000439209.1_Intron	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	8					cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)		p.E8D(1)		cervix(1)	1						AGTCCTCGTTCTCGCTGCTGT	0.711																																																	1	Substitution - Missense(1)	cervix(1)											9	10	9					11																	71814247		2175	4252	6427	SO:0001583	missense	55004			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.24G>C	11.37:g.71814247C>G	ENSP00000278671:p.Glu8Asp		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	NULL	p.E8D	ENST00000278671.5	37	c.24	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632202	0.29068	.	.	ENSG00000149357	ENST00000545249;ENST00000535107;ENST00000278671;ENST00000538404	T;T;T;T	0.46063	0.91;0.91;0.93;0.88	5.07	0.227	0.15359	.	0.295681	0.32918	N	0.005489	T	0.18087	0.0434	N	0.05124	-0.11	0.39693	D	0.971074	B	0.02656	0.0	B	0.01281	0.0	T	0.08785	-1.0705	10	0.18276	T	0.48	.	9.8024	0.40773	0.0:0.7281:0.1389:0.133	.	8	Q6IAA8	LTOR1_HUMAN	D	8	ENSP00000440738:E8D;ENSP00000445170:E8D;ENSP00000278671:E8D;ENSP00000439011:E8D	ENSP00000278671:E8D	E	-	3	2	LAMTOR1	71491895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.669000	0.25142	0.160000	0.19432	0.655000	0.94253	GAG	LAMTOR1	-	NULL		0.711	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR1	HGNC	protein_coding	OTTHUMT00000396733.1	C	NM_017907		71814247	-1	no_errors	ENST00000278671	ensembl	human	known	70_37	missense	SNP	0.995	G	G	71814247	C	G	71814247	3	3	58	1	0	0	0	0	1	0	0	0	1656	912	32	1	481	1	C11orf59	11	71814247	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1481140	71814247	63192269	774	8524										
FOLR1	2348	genome.wustl.edu	37	chr11	71903284	71903284	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggctgtagtaggggaggctCagacaaggattgcatgggcc	17	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:71903284C>T	ENST00000393679.1	+	2	503	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	FOLR1_ENST00000393676.3_Nonsense_Mutation_p.Q23*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.Q23*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.Q23*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	23					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.Q23*(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	AGGGGAGGCTCAGACAAGGAT	0.557																																																	1	Substitution - Nonsense(1)	cervix(1)											131	115	121					11																	71903284		2200	4293	6493	SO:0001587	stop_gained	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.67C>T	11.37:g.71903284C>T	ENSP00000377284:p.Gln23*		Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Nonsense_Mutation	SNP	pfam_Folate_rcpt-like	p.Q23*	ENST00000393679.1	37	c.67	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	-	37	5.985723	0.97173	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	.	.	.	4.36	1.38	0.22167	.	0.981664	0.08254	N	0.974209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	2.9615	0.05894	0.1852:0.5373:0.1792:0.0983	.	.	.	.	X	23	.	ENSP00000308137:Q23X	Q	+	1	0	FOLR1	71580932	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.417000	0.21214	0.322000	0.23283	0.650000	0.86243	CAG	FOLR1	-	pfam_Folate_rcpt-like		0.557	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	C	NM_016725		71903284	1	no_errors	ENST00000312293	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	71903284	C	T	71903284	4	4	58	1	0	0	0	0	0	1	0	0	5999	827	29	1	69	1	FOLR1	11	71903284	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	89037	71903284	63103232	775	8525										
FOLR1	2348	genome.wustl.edu	37	chr11	71903325	71903325	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggactgagcttctcaatgtCtgcatgaacgccaagcacca	9	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:71903325C>G	ENST00000393679.1	+	2	544	c.108C>G	c.(106-108)gtC>gtG	p.V36V	FOLR1_ENST00000393676.3_Silent_p.V36V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.V36V|FOLR1_ENST00000312293.4_Silent_p.V36V			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	36					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.V36V(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	TTCTCAATGTCTGCATGAACG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											127	112	117					11																	71903325		2200	4293	6493	SO:0001819	synonymous_variant	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.108C>G	11.37:g.71903325C>G			Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	pfam_Folate_rcpt-like	p.V36	ENST00000393679.1	37	c.108	CCDS8211.1	11																																																																																			FOLR1	-	pfam_Folate_rcpt-like		0.587	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	C	NM_016725		71903325	1	no_errors	ENST00000312293	ensembl	human	known	70_37	silent	SNP	0.990	G	G	71903325	C	G	71903325	2	3	58	1	0	0	0	0	0	0	0	1	5999	900	32	1		1	FOLR1	11	71903325	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	41	71903325	63103191	776	8526										
ARAP1	116985	genome.wustl.edu	37	chr11	72408143	72408143	+	Silent	SNP	G	G	C													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgtgctgctcgccctccttGaggtgcacagagcgcgcatc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:72408143G>C	ENST00000393609.3	-	22	3253	c.3051C>G	c.(3049-3051)ctC>ctG	p.L1017L	ARAP1_ENST00000393605.3_Silent_p.L777L|ARAP1_ENST00000359373.5_Silent_p.L1017L|ARAP1_ENST00000426523.1_Silent_p.L772L|ARAP1_ENST00000455638.2_Silent_p.L1017L|ARAP1_ENST00000334211.8_Silent_p.L772L|ARAP1_ENST00000429686.1_Silent_p.L711L|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1017	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L777L(1)|p.L1017L(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCCCTCCTTGAGGTGCACAG	0.642																																					Ovarian(102;1198 1520 13195 17913 37529)												2	Substitution - coding silent(2)	cervix(2)											53	54	54					11																	72408143		2200	4293	6493	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3051C>G	11.37:g.72408143G>C			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1017	ENST00000393609.3	37	c.3051	CCDS41687.1	11																																																																																			ARAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.642	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72408143	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	silent	SNP	1.000	C	C	72408143	G	C	72408143	2	2	58	1	0	0	0	0	0	0	0	1	838	1277	45	1		1	ARAP1	11	72408143	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	504818	72408143	62598373	777	8527	44	2								
ARAP1	116985	genome.wustl.edu	37	chr11	72408153	72408153	+	Missense_Mutation	SNP	G	G	C													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgccctccttgaggtgcacaGagcgcgcatcctgccgcagg							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:72408153G>C	ENST00000393609.3	-	22	3243	c.3041C>G	c.(3040-3042)tCt>tGt	p.S1014C	ARAP1_ENST00000393605.3_Missense_Mutation_p.S774C|ARAP1_ENST00000359373.5_Missense_Mutation_p.S1014C|ARAP1_ENST00000426523.1_Missense_Mutation_p.S769C|ARAP1_ENST00000455638.2_Missense_Mutation_p.S1014C|ARAP1_ENST00000334211.8_Missense_Mutation_p.S769C|ARAP1_ENST00000429686.1_Missense_Mutation_p.S708C|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1014	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S774C(1)|p.S1014C(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGGTGCACAGAGCGCGCATC	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)												2	Substitution - Missense(2)	cervix(2)											52	53	52					11																	72408153		2200	4293	6493	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3041C>G	11.37:g.72408153G>C	ENSP00000377233:p.Ser1014Cys		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S1014C	ENST00000393609.3	37	c.3041	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408641	0.83340	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.35	3.34	0.38264	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.260649	0.37809	N	0.001929	T	0.27134	0.0665	L	0.41415	1.275	0.32245	N	0.57218	P;P;P;P;P	0.51933	0.902;0.57;0.681;0.949;0.881	P;B;B;P;P	0.55222	0.643;0.119;0.368;0.771;0.511	T	0.30060	-0.9991	10	0.87932	D	0	.	8.7267	0.34474	0.0:0.3295:0.5299:0.1406	.	769;708;1014;1014;774	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	C	1014;1014;774;769;1014;769;708;302	ENSP00000352332:S1014C;ENSP00000390461:S1014C;ENSP00000377230:S774C;ENSP00000335506:S769C;ENSP00000377233:S1014C;ENSP00000392264:S769C;ENSP00000403127:S708C;ENSP00000411452:S302C	ENSP00000335506:S769C	S	-	2	0	ARAP1	72085801	0.846000	0.29590	0.964000	0.40570	0.969000	0.65631	1.444000	0.35068	1.221000	0.43506	0.455000	0.32223	TCT	ARAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72408153	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	missense	SNP	0.994	C	C	72408153	G	C	72408153	3	2	58	1	0	0	0	0	1	0	0	0	838	942	33	1	1367	1	ARAP1	11	72408153	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	10	72408153	62598363	778	8528	44	2								
ATG16L2	89849	genome.wustl.edu	37	chr11	72533173	72533173	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggaggagtggcgggcgcaGaatgcggtgcagcgggcagc	22	8	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:72533173G>A	ENST00000321297.5	+	5	615	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	159					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q159Q(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGCGGGCGCAGAATGCGGTGC	0.751																																																	1	Substitution - coding silent(1)	cervix(1)											3	3	3					11																	72533173		1633	3489	5122	SO:0001819	synonymous_variant	89849			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.477G>A	11.37:g.72533173G>A			A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Silent	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q159	ENST00000321297.5	37	c.477	CCDS31634.1	11																																																																																			ATG16L2	-	pfam_Autophagy-rel_prot_16		0.751	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	G	NM_033388		72533173	1	no_errors	ENST00000321297	ensembl	human	known	70_37	silent	SNP	0.151	A	A	72533173	G	A	72533173	2	1	58	1	0	0	0	0	0	0	0	1	1093	933	33	1		1	ATG16L2	11	72533173	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	125020	72533173	62473343	779	8529										
C2CD3	26005	genome.wustl.edu	37	chr11	73785637	73785637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcatttcgtccaaacagagGatacacacctaaaagaagat	7	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:73785637G>C	ENST00000334126.7	-	24	4838	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1538A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1538					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.P1538A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCAAACAGAGGATACACACCT	0.483																																																	2	Substitution - Missense(2)	cervix(2)											34	32	32					11																	73785637		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4612C>G	11.37:g.73785637G>C	ENSP00000334379:p.Pro1538Ala		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.P1538A	ENST00000334126.7	37	c.4612		11	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699898	0.68501	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.88124	-2.34;-2.34;-2.34	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	M	0.70275	2.135	0.43073	D	0.994718	D	0.76494	0.999	D	0.85130	0.997	D	0.93393	0.6753	10	0.72032	D	0.01	-13.5683	14.3671	0.66812	0.0723:0.0:0.9277:0.0	.	1538	Q4AC94-1	.	A	1538;1538;1519;346	ENSP00000334379:P1538A;ENSP00000323339:P1538A;ENSP00000388750:P346A	ENSP00000323339:P1538A	P	-	1	0	C2CD3	73463285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.669000	0.91163	1.477000	0.48234	0.655000	0.94253	CCT	C2CD3	-	NULL		0.483	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73785637	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73785637	G	C	73785637	3	2	58	1	0	0	0	0	1	0	0	0	2159	1174	41	1	1311	1	C2CD3	11	73785637	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1252464	73785637	61220879	780	8530										
UVRAG	7405	genome.wustl.edu	37	chr11	75591011	75591011	+	Missense_Mutation	SNP	G	G	A													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtggtgaagatatggggtgGaaaggagaacatctaccagc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:75591011G>A	ENST00000356136.3	+	4	600	c.359G>A	c.(358-360)gGa>gAa	p.G120E	UVRAG_ENST00000528420.1_Missense_Mutation_p.G19E	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	120	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.G120E(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATATGGGGTGGAAAGGAGAAC	0.428																																																	1	Substitution - Missense(1)	cervix(1)											279	263	268					11																	75591011		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.359G>A	11.37:g.75591011G>A	ENSP00000348455:p.Gly120Glu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G120E	ENST00000356136.3	37	c.359	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375907	0.82682	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.45668	0.89	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (1);	0.099000	0.64402	D	0.000001	T	0.51941	0.1704	L	0.50333	1.59	0.80722	D	1	D	0.55172	0.97	P	0.56612	0.802	T	0.32640	-0.9899	10	0.12766	T	0.61	-16.7307	18.3143	0.90213	0.0:0.0:1.0:0.0	.	120	Q9P2Y5	UVRAG_HUMAN	E	120;19;19	ENSP00000348455:G120E	ENSP00000348455:G120E	G	+	2	0	UVRAG	75268659	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.410000	0.97335	2.678000	0.91216	0.655000	0.94253	GGA	UVRAG	-	smart_C2_Ca-dep		0.428	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75591011	1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75591011	G	A	75591011	3	1	58	1	0	0	0	0	1	0	0	0	17139	1174	41	1	373	1	UVRAG	11	75591011	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1805374	75591011	59415505	781	8531	45	2								
UVRAG	7405	genome.wustl.edu	37	chr11	75591018	75591018	+	Frame_Shift_Del	DEL	G	G	-													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagatatggggtggaaaggaGaacatctaccagctgttgat							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:75591018delG	ENST00000356136.3	+	4	607	c.366delG	c.(364-366)gagfs	p.E122fs	UVRAG_ENST00000528420.1_Frame_Shift_Del_p.E21fs	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	122	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTGGAAAGGAGAACATCTACC	0.433																																																	0													280	265	270					11																	75591018		2200	4293	6493	SO:0001589	frameshift_variant	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.366delG	11.37:g.75591018delG	ENSP00000348455:p.Glu122fs		B3KTC1|O00392	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.N123fs	ENST00000356136.3	37	c.366	CCDS8241.1	11																																																																																			UVRAG	-	smart_C2_Ca-dep		0.433	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75591018	1	no_errors	ENST00000356136	ensembl	human	known	70_37	frame_shift_del	DEL	0.998	-	-	75591018	G	-	75591018	7	5	58	1	0	1	0	1	0	0	0	0	17139	933	33	0	380	0	UVRAG	11	75591018	Frame_Shift_Del	DEL	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7	75591018	59415498	782	8532	45	2								
PRKRIR	5612	genome.wustl.edu	37	chr11	76063578	76063578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accagaatttatccgacactCcagcagtgcctgaaagttat	7	11	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:76063578C>G	ENST00000260045.3	-	5	721	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	206					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E206Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATCCGACACTCCAGCAGTGCC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											40	39	39					11																	76063578		2199	4287	6486	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.616G>C	11.37:g.76063578C>G	ENSP00000260045:p.Glu206Gln		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E206Q	ENST00000260045.3	37	c.616	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492039	0.64074	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.75	3.84	0.44239	.	0.091086	0.85682	D	0.000000	T	0.55194	0.1905	L	0.55103	1.725	0.51233	D	0.99991	P	0.36027	0.533	B	0.39531	0.302	T	0.56571	-0.7957	9	0.44086	T	0.13	.	13.2523	0.60057	0.0:0.9219:0.0:0.0781	.	206	O43422	P52K_HUMAN	Q	31;206	.	ENSP00000260045:E206Q	E	-	1	0	PRKRIR	75741226	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	5.450000	0.66626	1.149000	0.42402	0.485000	0.47835	GAG	PRKRIR	-	NULL		0.443	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	C	NM_004705		76063578	-1	no_errors	ENST00000260045	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76063578	C	G	76063578	3	3	58	1	0	0	0	0	1	0	0	0	12553	864	30	1	1673	1	PRKRIR	11	76063578	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	472560	76063578	58942938	783	8533										
CREBZF	58487	genome.wustl.edu	37	chr11	85375024	85375024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtcgtggtcaccggcgggcGagtctctgaagagcgaggtg	18	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:85375024G>C	ENST00000527447.1	-	1	1122	c.896C>G	c.(895-897)tCg>tGg	p.S299W	CREBZF_ENST00000398294.2_Missense_Mutation_p.S217W|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	299					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S299W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				ACCGGCGGGCGAGTCTCTGAA	0.642											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)												1	Substitution - Missense(1)	cervix(1)											40	45	44					11																	85375024		1995	4165	6160	SO:0001583	missense	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.896C>G	11.37:g.85375024G>C	ENSP00000433459:p.Ser299Trp	1236	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	pfam_bZIP	p.S299W	ENST00000527447.1	37	c.896	CCDS41697.1	11	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080801	0.55753	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	5.22	5.22	0.72569	.	0.140700	0.30584	N	0.009314	T	0.51466	0.1676	L	0.46157	1.445	0.54753	D	0.999987	D	0.57257	0.979	P	0.48795	0.59	T	0.47355	-0.9124	8	.	.	.	-39.6706	11.7341	0.51755	0.0839:0.0:0.9161:0.0	.	299	Q9NS37	ZHANG_HUMAN	W	217;299	.	.	S	-	2	0	CREBZF	85052672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.130000	0.31393	2.715000	0.92844	0.655000	0.94253	TCG	CREBZF	-	NULL		0.642	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2	G	NM_001039618		85375024	-1	no_errors	ENST00000525639	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85375024	G	C	85375024	3	2	58	1	0	0	0	0	1	0	0	0	3868	1059	37	1	172	1	CREBZF	11	85375024	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9311446	85375024	49631492	784	8534										
SIK2	23235	genome.wustl.edu	37	chr11	111591721	111591721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtatgaacaaataggaccgGaggcagaccctaacctggcg	12	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:111591721G>A	ENST00000304987.3	+	12	2052	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	627					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E627K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAGGACCGGAGGCAGACCC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											81	86	84					11																	111591721		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1879G>A	11.37:g.111591721G>A	ENSP00000305976:p.Glu627Lys		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E627K	ENST00000304987.3	37	c.1879	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929187	0.73327	.	.	ENSG00000170145	ENST00000304987	T	0.73152	-0.72	6.17	5.25	0.73442	.	0.317810	0.37761	N	0.001947	T	0.64494	0.2603	L	0.50333	1.59	0.34177	D	0.670444	B	0.17038	0.02	B	0.15870	0.014	T	0.66626	-0.5876	10	0.16420	T	0.52	.	15.7024	0.77552	0.0666:0.0:0.9334:0.0	.	627	Q9H0K1	SIK2_HUMAN	K	627	ENSP00000305976:E627K	ENSP00000305976:E627K	E	+	1	0	SIK2	111096931	1.000000	0.71417	0.446000	0.26920	0.391000	0.30476	3.732000	0.55021	1.596000	0.50062	0.655000	0.94253	GAG	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2		0.517	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	G	NM_015191		111591721	1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	0.986	A	A	111591721	G	A	111591721	3	1	58	1	0	0	0	0	1	0	0	0	14348	1175	41	1	1925	1	SIK2	11	111591721	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	26216697	111591721	23414795	785	8535										
TTC12	54970	genome.wustl.edu	37	chr11	113230727	113230727	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agccaggatggaggaatcctGacagtaagtttctcccaggg	13	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:113230727G>A	ENST00000529221.1	+	18	1716	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	TTC12_ENST00000483239.2_Silent_p.L543L|TTC12_ENST00000393020.1_Silent_p.L537L|TTC12_ENST00000314756.3_Silent_p.L537L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	537								p.L537L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAGGAATCCTGACAGTAAGTT	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											72	62	65					11																	113230727		2200	4295	6495	SO:0001819	synonymous_variant	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1611G>A	11.37:g.113230727G>A			Q8N5H9|Q9NWY3	Silent	SNP	pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L537	ENST00000529221.1	37	c.1611	CCDS8360.2	11																																																																																			TTC12	-	superfamily_ARM-type_fold		0.423	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	HGNC	protein_coding	OTTHUMT00000286455.2	G	NM_017868		113230727	1	no_errors	ENST00000314756	ensembl	human	known	70_37	silent	SNP	0.983	A	A	113230727	G	A	113230727	2	1	58	1	0	0	0	0	0	0	0	1	16710	1277	45	1		1	TTC12	11	113230727	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1639006	113230727	21775789	786	8536										
REXO2	25996	genome.wustl.edu	37	chr11	114320605	114320605	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgaaagcatcaaagagcttCagttttaccgaaataacatc	7	8	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:114320605C>T	ENST00000265881.5	+	7	765	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000539275.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.Q118*|REXO2_ENST00000539754.1_Nonsense_Mutation_p.Q193*	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	208					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.Q208*(1)		cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CAAAGAGCTTCAGTTTTACCG	0.338																																																	1	Substitution - Nonsense(1)	cervix(1)											126	129	128					11																	114320605		2201	4296	6497	SO:0001587	stop_gained	25996			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"REX2, RNA exonuclease 2 homolog (S. cerevisiae)"			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.622C>T	11.37:g.114320605C>T	ENSP00000265881:p.Gln208*		B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Nonsense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q208*	ENST00000265881.5	37	c.622	CCDS8371.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.234870|4.234870	0.79800|0.79800	.|.	.|.	ENSG00000076043|ENSG00000076043	ENST00000265881;ENST00000539754;ENST00000539788;ENST00000538791|ENST00000539119;ENST00000538403	.|.	.|.	.|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.102163|.	0.64402|.	D|.	0.000001|.	.|T	.|0.72755	.|0.3500	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72465	.|-0.4285	.|4	0.02654|.	T|.	1|.	-3.6802|-3.6802	16.3022|16.3022	0.82825|0.82825	0.0:0.8678:0.1322:0.0|0.0:0.8678:0.1322:0.0	.|.	.|.	.|.	.|.	X|L	208;193;82;118|162;124	.|.	ENSP00000265881:Q208X|.	Q|S	+|+	1|2	0|0	REXO2|REXO2	113825815|113825815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.773000|5.773000	0.68898|0.68898	1.485000|1.485000	0.48380|0.48380	0.650000|0.650000	0.86243|0.86243	CAG|TCA	REXO2	-	superfamily_RNaseH-like_dom,smart_Exonuclease		0.338	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	C	NM_015523		114320605	1	no_errors	ENST00000265881	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	114320605	C	T	114320605	4	4	58	1	0	0	0	0	0	1	0	0	13272	827	29	1	648	1	REXO2	11	114320605	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1089878	114320605	20685911	787	8537										
APOA4	337	genome.wustl.edu	37	chr11	116692248	116692248	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggggcctcagcgaggcctGcaggctgtcggcgttctccc	16	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:116692248G>A	ENST00000357780.3	-	3	640	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	176	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.Q176*(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCGAGGCCTGCAGGCTGTCG	0.667																																																	1	Substitution - Nonsense(1)	cervix(1)											140	126	130					11																	116692248		2201	4296	6497	SO:0001587	stop_gained	337				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.526C>T	11.37:g.116692248G>A	ENSP00000350425:p.Gln176*		A8MSL6|Q14CW8|Q6Q787	Nonsense_Mutation	SNP	pfam_ApoA1_A4_E	p.Q176*	ENST00000357780.3	37	c.526	CCDS31681.1	11	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727016	0.48833	.	.	ENSG00000110244	ENST00000357780	.	.	.	5.02	1.96	0.26148	.	0.921363	0.09270	N	0.825262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.1439	10.9698	0.47432	0.0:0.2639:0.5992:0.1369	.	.	.	.	X	176	.	ENSP00000350425:Q176X	Q	-	1	0	APOA4	116197458	0.974000	0.33945	0.017000	0.16124	0.006000	0.05464	2.797000	0.47877	0.126000	0.18424	-0.521000	0.04368	CAG	APOA4	-	pfam_ApoA1_A4_E		0.667	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	HGNC	protein_coding	OTTHUMT00000106279.2	G	NM_000482		116692248	-1	no_errors	ENST00000357780	ensembl	human	known	70_37	nonsense	SNP	0.907	A	A	116692248	G	A	116692248	4	1	58	1	0	0	0	0	0	1	0	0	783	1328	46	4	668	4	APOA4	11	116692248	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2371643	116692248	18314268	788	8538										
DSCAML1	57453	genome.wustl.edu	37	chr11	117303882	117303882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgatgccttctttgtcctcGatgagcagctggaccctggg	12	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:117303882G>C	ENST00000321322.6	-	29	5179	c.5178C>G	c.(5176-5178)atC>atG	p.I1726M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1456M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1666					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I1726M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTTGTCCTCGATGAGCAGCT	0.567																																																	1	Substitution - Missense(1)	cervix(1)											121	103	109					11																	117303882		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5178C>G	11.37:g.117303882G>C	ENSP00000315465:p.Ile1726Met		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1726M	ENST00000321322.6	37	c.5178	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541570	0.65085	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69306	-0.34;-0.39	5.46	-6.5	0.01884	.	.	.	.	.	T	0.77184	0.4093	M	0.65498	2.005	0.45979	D	0.998798	D	0.76494	0.999	D	0.76071	0.987	T	0.81331	-0.0981	9	0.66056	D	0.02	.	17.8652	0.88794	0.2122:0.0:0.7878:0.0	.	1666	Q8TD84	DSCL1_HUMAN	M	1456;1726;1433	ENSP00000434335:I1456M;ENSP00000315465:I1726M	ENSP00000315465:I1726M	I	-	3	3	DSCAML1	116809092	0.855000	0.29742	0.903000	0.35520	0.977000	0.68977	-0.028000	0.12350	-1.123000	0.02940	-1.076000	0.02234	ATC	DSCAML1	-	NULL		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117303882	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	0.853	C	C	117303882	G	C	117303882	3	2	58	1	0	0	0	0	1	0	0	0	4779	1048	37	1	1183	1	DSCAML1	11	117303882	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	611634	117303882	17702634	789	8539										
BCL9L	283149	genome.wustl.edu	37	chr11	118772426	118772426	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtgccgcagcagctcctCacggacccggggagtcatga	14	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:118772426C>T	ENST00000334801.3	-	6	2990	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	676					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.E676K(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCAGCTCCTCACGGACCCGG	0.652																																																	2	Substitution - Missense(2)	cervix(2)											35	35	35					11																	118772426		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2026G>A	11.37:g.118772426C>T	ENSP00000335320:p.Glu676Lys		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.E676K	ENST00000334801.3	37	c.2026	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179241	0.78564	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.69806	-0.43	4.67	4.67	0.58626	.	0.000000	0.44285	D	0.000471	T	0.79516	0.4459	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.81745	-0.0792	10	0.72032	D	0.01	-21.0803	17.3498	0.87320	0.0:1.0:0.0:0.0	.	671;676	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	K	676;639;676;676	ENSP00000335320:E676K	ENSP00000335320:E676K	E	-	1	0	BCL9L	118277636	1.000000	0.71417	0.952000	0.39060	0.503000	0.33858	7.610000	0.82949	2.419000	0.82065	0.313000	0.20887	GAG	BCL9L	-	NULL		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	C	NM_182557		118772426	-1	no_errors	ENST00000334801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118772426	C	T	118772426	3	4	58	1	0	0	0	0	1	0	0	0	1383	835	29	1	2485	1	BCL9L	11	118772426	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1468544	118772426	16234090	790	8540										
VPS11	55823	genome.wustl.edu	37	chr11	118940948	118940948	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcttgttttcttacaggtttCacagatggcagtgttacatt	8	7	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:118940948C>T	ENST00000300793.6	+	5	516	c.474C>T	c.(472-474)ttC>ttT	p.F158F	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.13_ENST00000607709.1_RNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	159					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)	p.F158F(1)		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)		TTACAGGTTTCACAGATGGCA	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											41	41	41					11																	118940948		1868	4103	5971	SO:0001819	synonymous_variant	55823			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.474C>T	11.37:g.118940948C>T			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.453	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		C	NM_021729		118940948	1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	T	T	118940948	C	T	118940948	2	4	58	1	0	0	0	0	0	0	0	1	17219	825	29	1		1	VPS11	11	118940948	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	168522	118940948	16065568	791	8541										
NLRX1	79671	genome.wustl.edu	37	chr11	119053983	119053983	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtgaagtccagcggaacctCaatagctgggatcgggcccg	14	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:119053983C>A	ENST00000409109.1	+	10	3350	c.2763C>A	c.(2761-2763)ctC>ctA	p.L921L	NLRX1_ENST00000292199.2_Silent_p.L921L|PDZD3_ENST00000322712.4_5'Flank|PDZD3_ENST00000392817.2_5'Flank|NLRX1_ENST00000409991.1_Silent_p.L921L|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000525131.1_5'Flank|PDZD3_ENST00000531114.1_5'Flank|NLRX1_ENST00000525863.1_Intron|PDZD3_ENST00000355547.5_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	921	LRRCT.|Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.L921L(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCGGAACCTCAATAGCTGGG	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											101	95	97					11																	119053983		2200	4295	6495	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2763C>A	11.37:g.119053983C>A			A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L921	ENST00000409109.1	37	c.2763	CCDS8416.1	11																																																																																			NLRX1	-	NULL		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119053983	1	no_errors	ENST00000292199	ensembl	human	known	70_37	silent	SNP	0.967	A	A	119053983	C	A	119053983	2	1	58	1	0	0	0	0	0	0	0	1	10509	813	29	3		3	NLRX1	11	119053983	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	113035	119053983	15952533	792	8542										
PDZD3	79849	genome.wustl.edu	37	chr11	119059398	119059398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaacacagaggctcccgcctCgccccggggcagcagctcag	13	17	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:119059398C>T	ENST00000531114.1	+	7	1856	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	PDZD3_ENST00000322712.4_Missense_Mutation_p.S356L|PDZD3_ENST00000392817.2_Missense_Mutation_p.S436L|PDZD3_ENST00000525131.1_Missense_Mutation_p.S357L|PDZD3_ENST00000355547.5_Missense_Mutation_p.S370L			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	436					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.S356L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GCTCCCGCCTCGCCCCGGGGC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											53	49	51					11																	119059398		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1307C>T	11.37:g.119059398C>T	ENSP00000431164:p.Ser436Leu		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S436L	ENST00000531114.1	37	c.1307		11	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008791	0.35415	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.73681	1.53;1.5;1.53;-0.77;1.5	5.21	3.23	0.37069	PDZ/DHR/GLGF (1);	1.844020	0.02672	N	0.108703	T	0.62048	0.2396	L	0.29908	0.895	0.09310	N	1	B;B;P;B	0.37781	0.261;0.267;0.608;0.414	B;B;B;B	0.30943	0.014;0.01;0.122;0.042	T	0.56589	-0.7954	10	0.40728	T	0.16	-0.8412	7.3671	0.26779	0.1673:0.7466:0.0:0.0861	.	357;436;370;356	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	L	357;436;370;356;370;436	ENSP00000434559:S357L;ENSP00000431164:S436L;ENSP00000347742:S370L;ENSP00000327107:S356L;ENSP00000376564:S436L	ENSP00000327107:S356L	S	+	2	0	PDZD3	118564608	0.000000	0.05858	0.013000	0.15412	0.030000	0.12068	0.309000	0.19332	2.444000	0.82710	0.655000	0.94253	TCG	PDZD3	-	superfamily_PDZ		0.612	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	C	NM_024791		119059398	1	no_errors	ENST00000392817	ensembl	human	known	70_37	missense	SNP	0.003	T	T	119059398	C	T	119059398	3	4	58	1	0	0	0	0	1	0	0	0	11726	893	31	1	1143	1	PDZD3	11	119059398	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5415	119059398	15947118	793	8543										
RNF26	79102	genome.wustl.edu	37	chr11	119207071	119207071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcctgatgcgccaccccgtCtaccaccgcaattgcccgct	7	19	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:119207071C>T	ENST00000311413.4	+	1	1835	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'Flank	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	413						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V413V(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCACCCCGTCTACCACCGCA	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											76	72	74					11																	119207071		2199	4295	6494	SO:0001819	synonymous_variant	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1239C>T	11.37:g.119207071C>T			Q542Y8	Silent	SNP	pfscan_Znf_RING	p.V413	ENST00000311413.4	37	c.1239	CCDS8419.1	11																																																																																			RNF26	-	pfscan_Znf_RING		0.632	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	C	NM_032015		119207071	1	no_errors	ENST00000311413	ensembl	human	known	70_37	silent	SNP	0.985	T	T	119207071	C	T	119207071	2	4	58	1	0	0	0	0	0	0	0	1	13516	900	32	1		1	RNF26	11	119207071	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	147673	119207071	15799445	794	8544										
GRIK4	2900	genome.wustl.edu	37	chr11	120776193	120776193	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgggaatggtcggggagctGatcgctagggtaaggagagg	20	5	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:120776193G>C	ENST00000527524.2	+	13	1754	c.1467G>C	c.(1465-1467)ctG>ctC	p.L489L	GRIK4_ENST00000438375.2_Silent_p.L489L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	489					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L489L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCGGGGAGCTGATCGCTAGGG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											80	80	80					11																	120776193		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1467G>C	11.37:g.120776193G>C			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L489	ENST00000527524.2	37	c.1467	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt		0.597	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120776193	1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	1.000	C	C	120776193	G	C	120776193	2	2	58	1	0	0	0	0	0	0	0	1	6796	1277	45	1		1	GRIK4	11	120776193	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1569122	120776193	14230323	795	8545										
TECTA	7007	genome.wustl.edu	37	chr11	120989131	120989131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggcttcctgtagcccctacGaggtgtgcgaacccaaaggc	12	13	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:120989131G>A	ENST00000392793.1	+	7	1178	c.907G>A	c.(907-909)Gag>Aag	p.E303K	TECTA_ENST00000264037.2_Missense_Mutation_p.E303K			O75443	TECTA_HUMAN	tectorin alpha	303	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E303K(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGCCCCTACGAGGTGTGCGA	0.537																																																	1	Substitution - Missense(1)	cervix(1)											94	92	92					11																	120989131		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.907G>A	11.37:g.120989131G>A	ENSP00000376543:p.Glu303Lys			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.E303K	ENST00000392793.1	37	c.907	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.590630	0.96590	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64991	-0.13;-0.13	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.81394	0.4813	M	0.80422	2.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.75484	0.986	T	0.82721	-0.0317	10	0.66056	D	0.02	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	303	O75443	TECTA_HUMAN	K	303	ENSP00000376543:E303K;ENSP00000264037:E303K	ENSP00000264037:E303K	E	+	1	0	TECTA	120494341	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.512000	0.73737	2.668000	0.90789	0.563000	0.77884	GAG	TECTA	-	smart_VWC_out		0.537	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	G	NM_005422		120989131	1	no_errors	ENST00000264037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120989131	G	A	120989131	3	1	58	1	0	0	0	0	1	0	0	0	15777	1059	37	1	929	1	TECTA	11	120989131	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	212938	120989131	14017385	796	8546										
OR6M1	390261	genome.wustl.edu	37	chr11	123676287	123676287	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggagttctgattgggtctCacatacacaaagatgttgct	11	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:123676287C>T	ENST00000309154.2	-	1	808	c.771G>A	c.(769-771)gtG>gtA	p.V257V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V257V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GATTGGGTCTCACATACACAA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											107	97	101					11																	123676287		2202	4299	6501	SO:0001819	synonymous_variant	390261			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.771G>A	11.37:g.123676287C>T			B2RNK0|Q6IEW9|Q96R37	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V257	ENST00000309154.2	37	c.771	CCDS31696.1	11																																																																																			OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	C	NM_001005325		123676287	-1	no_errors	ENST00000309154	ensembl	human	known	70_37	silent	SNP	0.994	T	T	123676287	C	T	123676287	2	4	58	1	0	0	0	0	0	0	0	1	11229	813	29	1		1	OR6M1	11	123676287	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2687156	123676287	11330229	797	8547										
OR6T1	219874	genome.wustl.edu	37	chr11	123813598	123813598	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcctttgacttgtgaccctCagtttcatcacagcagtgag	8	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:123813598C>T	ENST00000321252.2	-	1	982	c.948G>A	c.(946-948)ctG>ctA	p.L316L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L316L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTGTGACCCTCAGTTTCATCA	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											109	108	109					11																	123813598		2202	4299	6501	SO:0001819	synonymous_variant	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.948G>A	11.37:g.123813598C>T			Q6IFE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L316	ENST00000321252.2	37	c.948	CCDS31700.1	11																																																																																			OR6T1	-	NULL		0.428	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	C	NM_001005187		123813598	-1	no_errors	ENST00000321252	ensembl	human	known	70_37	silent	SNP	0.001	T	T	123813598	C	T	123813598	2	4	58	1	0	0	0	0	0	0	0	1	11234	813	29	1		1	OR6T1	11	123813598	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	137311	123813598	11192918	798	8548										
VSIG2	23584	genome.wustl.edu	37	chr11	124621373	124621373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acaaagctccactccagggcGaagctgtctcccaccgacgt	9	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:124621373G>C	ENST00000326621.5	-	2	265	c.165C>G	c.(163-165)ttC>ttG	p.F55L	VSIG2_ENST00000403470.1_Missense_Mutation_p.F55L	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	55	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.F55L(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACTCCAGGGCGAAGCTGTCTC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											108	80	90					11																	124621373		2201	4299	6500	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.165C>G	11.37:g.124621373G>C	ENSP00000318684:p.Phe55Leu		O95791|Q9NX42	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F55L	ENST00000326621.5	37	c.165	CCDS8452.1	11	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224212	0.22457	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.64991	-0.13;-0.13	4.62	-3.47	0.04753	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.255887	0.30676	N	0.009104	T	0.52629	0.1746	N	0.11673	0.155	0.30189	N	0.799709	D	0.76494	0.999	D	0.80764	0.994	T	0.58025	-0.7709	10	0.17369	T	0.5	.	11.3034	0.49320	0.6277:0.0:0.3723:0.0	.	55	Q96IQ7	VSIG2_HUMAN	L	55	ENSP00000318684:F55L;ENSP00000385013:F55L	ENSP00000318684:F55L	F	-	3	2	VSIG2	124126583	0.993000	0.37304	0.974000	0.42286	0.933000	0.57130	-0.043000	0.12043	-0.591000	0.05859	-0.137000	0.14449	TTC	VSIG2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.627	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG2	HGNC	protein_coding	OTTHUMT00000317785.1	G	NM_014312		124621373	-1	no_errors	ENST00000326621	ensembl	human	known	70_37	missense	SNP	0.904	C	C	124621373	G	C	124621373	3	2	58	1	0	0	0	0	1	0	0	0	17255	1049	37	1	842	1	VSIG2	11	124621373	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	807775	124621373	10385143	799	8549										
ROBO4	54538	genome.wustl.edu	37	chr11	124761385	124761385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtactggagggcagctcagcGatgagggagccataaaaagt	15	7	1	1	rs111626453		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:124761385G>C	ENST00000306534.3	-	12	2243	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.I441M	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	586					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I586M(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGCTCAGCGATGAGGGAGC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											32	42	39					11																	124761385		2201	4299	6500	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1758C>G	11.37:g.124761385G>C	ENSP00000304945:p.Ile586Met		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I586M	ENST00000306534.3	37	c.1758	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425455	0.43020	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64438	-0.1;0.26	5.99	-0.643	0.11482	.	0.000000	0.39834	N	0.001258	T	0.51176	0.1659	L	0.53249	1.67	0.28077	N	0.932339	P;P;P	0.47841	0.737;0.901;0.841	B;B;B	0.43413	0.268;0.419;0.24	T	0.49597	-0.8923	10	0.45353	T	0.12	.	5.6283	0.17495	0.421:0.1511:0.4278:0.0	.	586;476;586	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	M	586;476;441	ENSP00000304945:I586M;ENSP00000437129:I441M	ENSP00000304945:I586M	I	-	3	3	ROBO4	124266595	0.040000	0.19996	0.995000	0.50966	0.972000	0.66771	-0.426000	0.07008	0.073000	0.16731	-0.140000	0.14226	ATC	ROBO4	-	NULL		0.627	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	G	NM_019055		124761385	-1	no_errors	ENST00000306534	ensembl	human	known	70_37	missense	SNP	0.912	C	C	124761385	G	C	124761385	3	2	58	1	0	0	0	0	1	0	0	0	13546	1048	37	1	1293	1	ROBO4	11	124761385	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	140012	124761385	10245131	800	8550										
CCDC15	80071	genome.wustl.edu	37	chr11	124845006	124845006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggcagcttagtgaaactatGaaacaggcacgtcaccggct	11	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:124845006G>A	ENST00000344762.5	+	5	790	c.531G>A	c.(529-531)atG>atA	p.M177I	CCDC15_ENST00000529051.1_Missense_Mutation_p.M177I	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	177						centrosome (GO:0005813)		p.M177I(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GTGAAACTATGAAACAGGCAC	0.418																																																	2	Substitution - Missense(2)	cervix(2)											55	49	51					11																	124845006		1839	4097	5936	SO:0001583	missense	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.531G>A	11.37:g.124845006G>A	ENSP00000341684:p.Met177Ile		Q9H8U7	Missense_Mutation	SNP	NULL	p.M177I	ENST00000344762.5	37	c.531	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057325	0.55325	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.35789	1.3;1.29	5.49	5.49	0.81192	.	0.058743	0.64402	D	0.000006	T	0.37892	0.1020	M	0.69823	2.125	0.29286	N	0.869684	P	0.36909	0.573	B	0.32677	0.15	T	0.46498	-0.9187	10	0.42905	T	0.14	-8.3	14.8609	0.70382	0.0:0.0:1.0:0.0	.	177	Q0P6D6	CCD15_HUMAN	I	177	ENSP00000435403:M177I;ENSP00000341684:M177I	ENSP00000341684:M177I	M	+	3	0	CCDC15	124350216	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	4.736000	0.62059	2.572000	0.86782	0.650000	0.86243	ATG	CCDC15	-	NULL		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	G	NM_025004		124845006	1	no_errors	ENST00000344762	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124845006	G	A	124845006	3	1	58	1	0	0	0	0	1	0	0	0	2789	1290	45	1	545	1	CCDC15	11	124845006	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	83621	124845006	10161510	801	8551										
FEZ1	9638	genome.wustl.edu	37	chr11	125325883	125325883	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggagttcttcacttccttctCaaactccagctcgtcccggc	7	16	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:125325883C>G	ENST00000278919.3	-	6	1021	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	263					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.E263Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACTTCCTTCTCAAACTCCAGC	0.557																																					Melanoma(180;509 2033 10762 15939 24711)												1	Substitution - Missense(1)	cervix(1)											106	103	104					11																	125325883		2201	4299	6500	SO:0001583	missense	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.787G>C	11.37:g.125325883C>G	ENSP00000278919:p.Glu263Gln		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.E263Q	ENST00000278919.3	37	c.787	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.363373	0.95877	.	.	ENSG00000149557	ENST00000278919	T	0.54866	0.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.79405	-0.1817	10	0.87932	D	0	-6.9402	19.3502	0.94381	0.0:1.0:0.0:0.0	.	234;263	B4DKG5;Q99689	.;FEZ1_HUMAN	Q	263	ENSP00000278919:E263Q	ENSP00000278919:E263Q	E	-	1	0	FEZ1	124831093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.660000	0.90430	0.655000	0.94253	GAG	FEZ1	-	pfam_FEZ		0.557	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	C	NM_005103		125325883	-1	no_errors	ENST00000278919	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125325883	C	G	125325883	3	3	58	1	0	0	0	0	1	0	0	0	5841	835	29	1	411	1	FEZ1	11	125325883	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	480877	125325883	9680633	802	8552										
APLP2	334	genome.wustl.edu	37	chr11	129979462	129979462	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggcaccaagagctgctttGaaacaaaagaagaagttctt	9	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:129979462G>C	ENST00000263574.5	+	2	316	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	APLP2_ENST00000338167.5_Missense_Mutation_p.E82Q|APLP2_ENST00000345598.5_Missense_Mutation_p.E82Q|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000528499.1_Missense_Mutation_p.E82Q|APLP2_ENST00000278756.7_Missense_Mutation_p.E92Q	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	82					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E82Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAGCTGCTTTGAAACAAAAGA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											99	91	94					11																	129979462		2201	4297	6498	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.244G>C	11.37:g.129979462G>C	ENSP00000263574:p.Glu82Gln		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E82Q	ENST00000263574.5	37	c.244	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028455	0.35797	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94092	-3.35;-1.7;-3.32;-1.84;-1.85	5.93	4.07	0.47477	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.111974	0.64402	D	0.000010	D	0.88016	0.6324	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.30114	0.269;0.045;0.045;0.045;0.058	B;B;B;B;B	0.34652	0.187;0.022;0.022;0.022;0.15	D	0.86967	0.2095	10	0.66056	D	0.02	-7.4859	11.3321	0.49482	0.1443:0.0:0.8557:0.0	.	82;82;82;82;82	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	Q	29;107;67;82;82;82;82;92	ENSP00000435914:E82Q;ENSP00000263574:E82Q;ENSP00000263575:E82Q;ENSP00000345444:E82Q;ENSP00000278756:E92Q	ENSP00000263574:E82Q	E	+	1	0	APLP2	129484672	1.000000	0.71417	0.736000	0.30914	0.705000	0.40729	5.360000	0.66086	1.537000	0.49254	-0.136000	0.14681	GAA	APLP2	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra		0.418	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	G	NM_001642		129979462	1	no_errors	ENST00000263574	ensembl	human	known	70_37	missense	SNP	0.991	C	C	129979462	G	C	129979462	3	2	58	1	0	0	0	0	1	0	0	0	779	1291	45	1	250	1	APLP2	11	129979462	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4653579	129979462	5027054	803	8553										
SPATA19	219938	genome.wustl.edu	37	chr11	133711958	133711958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtctgaggaggagggtctCatactgaagtcctgagctga	14	8	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:133711958C>G	ENST00000299140.3	-	6	534	c.480G>C	c.(478-480)atG>atC	p.M160I	SPATA19_ENST00000532889.1_Missense_Mutation_p.M160I	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	160					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.M160I(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AGGAGGGTCTCATACTGAAGT	0.572																																																	1	Substitution - Missense(1)	cervix(1)											141	129	133					11																	133711958		2201	4297	6498	SO:0001583	missense	219938			AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"spergen 1", "cancer/testis antigen 132"	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.480G>C	11.37:g.133711958C>G	ENSP00000299140:p.Met160Ile		Q8N7A9	Missense_Mutation	SNP	NULL	p.M160I	ENST00000299140.3	37	c.480	CCDS8493.1	11	.	.	.	.	.	.	.	.	.	.	C	6.406	0.442977	0.12164	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.41758	0.99;0.99	5.45	0.451	0.16629	.	1.903710	0.02428	N	0.083289	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13229	-1.0517	10	0.22706	T	0.39	-19.9679	5.6328	0.17520	0.3235:0.1671:0.5094:0.0	.	160	Q7Z5L4	SPT19_HUMAN	I	160	ENSP00000299140:M160I;ENSP00000435248:M160I	ENSP00000299140:M160I	M	-	3	0	SPATA19	133217168	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.432000	0.21461	0.182000	0.20032	0.561000	0.74099	ATG	SPATA19	-	NULL		0.572	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA19	HGNC	protein_coding	OTTHUMT00000393281.1	C	NM_174927		133711958	-1	no_errors	ENST00000299140	ensembl	human	known	70_37	missense	SNP	0.000	G	G	133711958	C	G	133711958	3	3	58	1	0	0	0	0	1	0	0	0	15034	826	29	1	27	1	SPATA19	11	133711958	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3732496	133711958	1294558	804	8554										
NCAPD3	23310	genome.wustl.edu	37	chr11	134027950	134027950	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcaggattgcaatggtgctCagggacatgggcctgtggag	16	7	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:134027950C>A	ENST00000534548.2	-	31	4111	c.4047G>T	c.(4045-4047)ctG>ctT	p.L1349L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1349					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L1349L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAATGGTGCTCAGGGACATGG	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											102	103	102					11																	134027950		2201	4297	6498	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4047G>T	11.37:g.134027950C>A			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L1349	ENST00000534548.2	37	c.4047	CCDS31723.1	11																																																																																			NCAPD3	-	pirsf_NCAPD3		0.552	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	C	NM_015261		134027950	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	silent	SNP	1.000	A	A	134027950	C	A	134027950	2	1	58	1	0	0	0	0	0	0	0	1	10230	813	29	3		3	NCAPD3	11	134027950	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	315992	134027950	978566	805	8555										
NCAPD3	23310	genome.wustl.edu	37	chr11	134047138	134047138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagagattggtaagcaagatGagtgtctgcttccggatgaa	13	5	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:134047138G>A	ENST00000534548.2	-	23	3061	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	999					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L999L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TAAGCAAGATGAGTGTCTGCT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											177	152	161					11																	134047138		2201	4297	6498	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2997C>T	11.37:g.134047138G>A			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L999	ENST00000534548.2	37	c.2997	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3		0.478	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	G	NM_015261		134047138	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	silent	SNP	0.624	A	A	134047138	G	A	134047138	2	1	58	1	0	0	0	0	0	0	0	1	10230	1277	45	1		1	NCAPD3	11	134047138	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	19188	134047138	959378	806	8556										
KDM5A	5927	genome.wustl.edu	37	chr12	463316	463316	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggaattagacaaaatgtatGatagctgtcatcacatccat	7	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:463316G>C	ENST00000399788.2	-	8	1317	c.955C>G	c.(955-957)Cat>Gat	p.H319D	KDM5A_ENST00000382815.4_Missense_Mutation_p.H319D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	319					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H319D(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAAAATGTATGATAGCTGTCA	0.403			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	2	Substitution - Missense(2)	cervix(2)											144	138	140					12																	463316		1929	4139	6068	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.955C>G	12.37:g.463316G>C	ENSP00000382688:p.His319Asp		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.H319D	ENST00000399788.2	37	c.955	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841355	0.91197	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.99005	-5.32;-5.32	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97453	1.0029	10	0.87932	D	0	-15.284	18.8719	0.92319	0.0:0.0:1.0:0.0	.	319;319;319	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	D	278;319;319	ENSP00000382688:H319D;ENSP00000372265:H319D	ENSP00000372265:H319D	H	-	1	0	KDM5A	333577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.530000	0.85305	0.467000	0.42956	CAT	KDM5A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.403	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		463316	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	463316	G	C	463316	3	2	58	1	0	0	0	0	1	0	0	0	8153	1290	45	1	4201	1	KDM5A	12	463316	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		463316	133388579	807	8557										
KDM5A	5927	genome.wustl.edu	37	chr12	464397	464397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgacctgttggtaacttttCgtcttcgggtgacctcatct	9	11	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:464397C>T	ENST00000399788.2	-	7	1159	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.R266Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	266					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R266Q(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGTAACTTTTCGTCTTCGGGT	0.373			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	2	Substitution - Missense(2)	cervix(2)											125	118	120					12																	464397		1866	4093	5959	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.797G>A	12.37:g.464397C>T	ENSP00000382688:p.Arg266Gln		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R266Q	ENST00000399788.2	37	c.797	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354947	0.41700	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.84660	-1.88;-1.69	5.49	5.49	0.81192	.	0.248880	0.34906	N	0.003599	T	0.77711	0.4171	N	0.22421	0.69	0.43598	D	0.995956	B;B;B	0.20052	0.033;0.024;0.041	B;B;B	0.14578	0.006;0.011;0.011	T	0.70651	-0.4813	10	0.19147	T	0.46	-8.7299	19.9135	0.97033	0.0:1.0:0.0:0.0	.	266;266;266	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	Q	225;266;266	ENSP00000382688:R266Q;ENSP00000372265:R266Q	ENSP00000372265:R266Q	R	-	2	0	KDM5A	334658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.827000	0.55745	2.779000	0.95612	0.573000	0.79308	CGA	KDM5A	-	NULL		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		464397	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	464397	C	T	464397	3	4	58	1	0	0	0	0	1	0	0	0	8153	884	31	1	4363	1	KDM5A	12	464397	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1081	464397	133387498	808	8558										
CCDC77	84318	genome.wustl.edu	37	chr12	550094	550094	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcgacgtatcctggaagtaGaaggctttaagacagatatt	11	6	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:550094G>C	ENST00000239830.4	+	12	1431	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	CCDC77_ENST00000540180.1_Missense_Mutation_p.E386Q|CCDC77_ENST00000422000.1_Missense_Mutation_p.E386Q|CCDC77_ENST00000412006.2_Missense_Mutation_p.E386Q	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	418						centrosome (GO:0005813)|membrane (GO:0016020)		p.E418Q(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCTGGAAGTAGAAGGCTTTAA	0.433																																																	1	Substitution - Missense(1)	cervix(1)											89	82	84					12																	550094		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1252G>C	12.37:g.550094G>C	ENSP00000239830:p.Glu418Gln		B4DDE8	Missense_Mutation	SNP	NULL	p.E418Q	ENST00000239830.4	37	c.1252	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739935	0.69304	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.44881	0.91;0.91;1.31;0.91;0.91	5.94	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.84585	2.705	0.58432	D	0.999998	P	0.36683	0.565	B	0.33254	0.16	T	0.56986	-0.7888	10	0.48119	T	0.1	-18.2775	16.9863	0.86340	0.0:0.1276:0.8724:0.0	.	418	Q9BR77	CCD77_HUMAN	Q	386;386;386;418;386	ENSP00000440554:E386Q;ENSP00000391870:E386Q;ENSP00000445873:E386Q;ENSP00000239830:E418Q;ENSP00000412925:E386Q	ENSP00000239830:E418Q	E	+	1	0	CCDC77	420355	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	7.727000	0.84838	1.479000	0.48272	0.563000	0.77884	GAA	CCDC77	-	NULL		0.433	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		550094	1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	1.000	C	C	550094	G	C	550094	3	2	58	1	0	0	0	0	1	0	0	0	2856	943	33	1	1290	1	CCDC77	12	550094	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	85697	550094	133301801	809	8559										
ERC1	23085	genome.wustl.edu	37	chr12	1372230	1372230	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtaagaaggatgacaggattGaagagctggaagaagcacta	14	4	0	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:1372230G>C	ENST00000397203.2	+	14	2924	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q	ERC1_ENST00000589028.1_Missense_Mutation_p.E840Q|ERC1_ENST00000355446.5_Missense_Mutation_p.E840Q|ERC1_ENST00000360905.4_Missense_Mutation_p.E840Q|ERC1_ENST00000546231.2_Missense_Mutation_p.E844Q|ERC1_ENST00000543086.3_Missense_Mutation_p.E812Q			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	840					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.E840Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGACAGGATTGAAGAGCTGGA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											82	76	78					12																	1372230		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2518G>C	12.37:g.1372230G>C	ENSP00000380386:p.Glu840Gln		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.E840Q	ENST00000397203.2	37	c.2518	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927640	0.92389	.	.	ENSG00000082805	ENST00000397203;ENST00000454194;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T	0.50277	1.7;1.7;0.75;1.33;1.71;1.7;1.32	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.68593	2.085	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.985	D;D;P	0.78314	0.991;0.91;0.756	T	0.61277	-0.7095	10	0.32370	T	0.25	-22.6879	20.5632	0.99335	0.0:0.0:1.0:0.0	.	816;812;840	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	Q	840;816;544;812;816;544;840;840;840;816	ENSP00000380386:E840Q;ENSP00000438546:E812Q;ENSP00000445336:E816Q;ENSP00000442976:E544Q;ENSP00000347621:E840Q;ENSP00000354158:E840Q;ENSP00000410064:E816Q	ENSP00000299183:E544Q	E	+	1	0	ERC1	1242491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.526000	0.98042	2.937000	0.99478	0.650000	0.86243	GAA	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	G	NM_015064		1372230	1	no_errors	ENST00000360905	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1372230	G	C	1372230	3	2	58	1	0	0	0	0	1	0	0	0	5222	1291	45	1	2568	1	ERC1	12	1372230	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	822136	1372230	132479665	810	8560										
CACNA1C	775	genome.wustl.edu	37	chr12	2613650	2613650	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctgggtgtattttgtcagtCtggtcatctttggatccttt	10	8	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2613650C>A	ENST00000399617.1	+	8	1162	c.1162C>A	c.(1162-1164)Ctg>Atg	p.L388M	CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L388M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L388M|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L388M|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L388M|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000344100.3_Intron	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	388					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L388M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTGTCAGTCTGGTCATCTT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											332	275	293					12																	2613650		1568	3582	5150	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1162C>A	12.37:g.2613650C>A	ENSP00000382526:p.Leu388Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L388M	ENST00000399617.1	37	c.1162	CCDS53733.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294841	0.81025	.	.	ENSG00000151067	ENST00000399641;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000322367	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.99052	0.9675	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.993;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.956;0.998;0.947;0.999;0.999;0.994	D	0.99402	1.0928	10	0.44086	T	0.13	.	18.5817	0.91174	0.0:1.0:0.0:0.0	.	17;388;359;388;388;388	Q5V9X8;Q13936-23;Q13936-28;E9PDJ1;E9PDJ0;F5GY28	.;.;.;.;.;.	M	388;388;388;388;388;229	ENSP00000382549:L388M;ENSP00000382512:L388M;ENSP00000382542:L388M;ENSP00000382526:L388M;ENSP00000385896:L388M	ENSP00000323129:L229M	L	+	1	2	CACNA1C	2483911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.619000	0.88677	0.561000	0.74099	CTG	CACNA1C	-	pfam_Ion_trans_dom		0.473	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317031.1	C	NM_000719		2613650	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2613650	C	A	2613650	3	1	58	1	0	0	0	0	1	0	0	0	2545	912	32	3	1192	3	CACNA1C	12	2613650	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1241420	2613650	131238245	811	8561										
CACNA1C	775	genome.wustl.edu	37	chr12	2690928	2690928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agacccggaggagcacattcGataacttcccccagtccctc	8	16	0	1	rs369638898		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2690928G>C	ENST00000347598.4	+	14	2068	c.2068G>C	c.(2068-2070)Gat>Cat	p.D690H	CACNA1C_ENST00000399638.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D690H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D690H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D690H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D715H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D690H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	690					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D690H(3)|p.D720H(1)|p.D225H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCACATTCGATAACTTCCC	0.542																																																	5	Substitution - Missense(5)	cervix(5)											86	91	90					12																	2690928		2176	4294	6470	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2068G>C	12.37:g.2690928G>C	ENSP00000266376:p.Asp690His		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.D690H	ENST00000347598.4	37	c.2068	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550948	0.86127	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	4.62	4.62	0.57501	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.989;0.969;0.999;0.98;0.997;0.969;0.997;0.994;0.995;0.997;0.969;1.0;0.995;0.997;0.998;0.999;1.0;0.997;1.0;0.969;0.997;0.997;0.969;0.999;0.969	D;P;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;D;D;P;D;D;P;D;P	0.83275	0.915;0.834;0.985;0.915;0.949;0.834;0.949;0.974;0.952;0.949;0.834;0.996;0.949;0.938;0.97;0.98;0.988;0.949;0.988;0.834;0.949;0.949;0.834;0.958;0.834	D	0.99651	1.0991	10	0.87932	D	0	.	17.9871	0.89159	0.0:0.0:1.0:0.0	.	690;687;690;690;690;690;690;690;690;690;690;661;690;690;690;690;690;690;690;690;690;690;690;690;690	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	715;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;531	ENSP00000336982:D715H;ENSP00000382563:D690H;ENSP00000437936:D690H;ENSP00000382552:D690H;ENSP00000382547:D690H;ENSP00000382506:D690H;ENSP00000382530:D690H;ENSP00000382546:D690H;ENSP00000382500:D690H;ENSP00000382549:D690H;ENSP00000266376:D690H;ENSP00000382515:D690H;ENSP00000382510:D690H;ENSP00000341092:D690H;ENSP00000382537:D690H;ENSP00000329877:D690H;ENSP00000382557:D690H;ENSP00000385724:D690H;ENSP00000382512:D690H;ENSP00000382542:D690H;ENSP00000382526:D690H;ENSP00000385896:D690H;ENSP00000382504:D690H	ENSP00000323129:D531H	D	+	1	0	CACNA1C	2561189	1.000000	0.71417	0.847000	0.33407	0.868000	0.49771	7.742000	0.85008	2.554000	0.86153	0.491000	0.48974	GAT	CACNA1C	-	pfam_Ion_trans_dom,prints_VDCCAlpha1,prints_VDCC_L_a1su		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2690928	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2690928	G	C	2690928	3	2	58	1	0	0	0	0	1	0	0	0	2545	1058	37	1	2230	1	CACNA1C	12	2690928	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	77278	2690928	131160967	812	8562										
CACNA1C	775	genome.wustl.edu	37	chr12	2719826	2719826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacttcgagtacctgatgttCgtcctcatcctgctcaacac	6	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2719826C>T	ENST00000347598.4	+	29	3738	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	CACNA1C_ENST00000399638.1_Silent_p.F1226F|CACNA1C_ENST00000399595.1_Silent_p.F1226F|CACNA1C_ENST00000399603.1_Silent_p.F1226F|CACNA1C_ENST00000406454.3_Silent_p.F1226F|CACNA1C_ENST00000402845.3_Silent_p.F1226F|CACNA1C_ENST00000399617.1_Silent_p.F1226F|CACNA1C_ENST00000399591.1_Silent_p.F1226F|CACNA1C_ENST00000399597.1_Silent_p.F1226F|CACNA1C_ENST00000327702.7_Silent_p.F1226F|CACNA1C_ENST00000399601.1_Silent_p.F1226F|CACNA1C_ENST00000399621.1_Silent_p.F1226F|CACNA1C_ENST00000399649.1_Silent_p.F1226F|CACNA1C_ENST00000399634.1_Silent_p.F1226F|CACNA1C_ENST00000399644.1_Silent_p.F1226F|CACNA1C_ENST00000480911.1_Silent_p.F1226F|CACNA1C_ENST00000399637.1_Silent_p.F1226F|CACNA1C_ENST00000399629.1_Silent_p.F1226F|CACNA1C_ENST00000399641.1_Silent_p.F1226F|CACNA1C_ENST00000399655.1_Silent_p.F1226F|CACNA1C_ENST00000335762.5_Silent_p.F1251F|CACNA1C_ENST00000399606.1_Silent_p.F1246F|CACNA1C_ENST00000344100.3_Silent_p.F1226F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1246					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F1226F(2)|p.F1246F(1)|p.F1276F(1)|p.F761F(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGATGTTCGTCCTCATCC	0.587																																																	5	Substitution - coding silent(5)	cervix(5)											106	109	108					12																	2719826		2200	4300	6500	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3738C>T	12.37:g.2719826C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.F1226	ENST00000347598.4	37	c.3678	CCDS44788.1	12																																																																																			CACNA1C	-	NULL		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2719826	1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	0.994	T	T	2719826	C	T	2719826	2	4	58	1	0	0	0	0	0	0	0	1	2545	883	31	1		1	CACNA1C	12	2719826	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	28898	2719826	131132069	813	8563										
FKBP4	2288	genome.wustl.edu	37	chr12	2908402	2908402	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaacattccatcgtgtacctCaagcccaggtgaggggtggg	14	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2908402C>G	ENST00000001008.4	+	5	850	c.663C>G	c.(661-663)ctC>ctG	p.L221L	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	221	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.L221L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			TCGTGTACCTCAAGCCCAGGT	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											88	74	79					12																	2908402		2203	4300	6503	SO:0001819	synonymous_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.663C>G	12.37:g.2908402C>G			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L221	ENST00000001008.4	37	c.663	CCDS8512.1	12																																																																																			FKBP4	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.502	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	C			2908402	1	no_errors	ENST00000001008	ensembl	human	known	70_37	silent	SNP	0.999	G	G	2908402	C	G	2908402	2	3	58	1	0	0	0	0	0	0	0	1	5928	813	29	1		1	FKBP4	12	2908402	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	188576	2908402	130943493	814	8564										
KCNA1	3736	genome.wustl.edu	37	chr12	5020588	5020588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtggacgaggcttcggccgCcccgggccacccccaggatg	15	17	0	0	rs543311674	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:5020588C>T	ENST00000382545.3	+	2	1151	c.44C>T	c.(43-45)gCc>gTc	p.A15V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	15					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A15V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GCTTCGGCCGCCCCGGGCCAC	0.711													C|||	2	0.000399361	0	0	5008	,	,		11500	0.001		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											18	21	20					12																	5020588		2192	4288	6480	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.44C>T	12.37:g.5020588C>T	ENSP00000371985:p.Ala15Val		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.A15V	ENST00000382545.3	37	c.44	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	C	7.028	0.560064	0.13498	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96073	-3.9	3.73	3.73	0.42828	.	0.790684	0.11879	N	0.520666	D	0.84629	0.5514	N	0.02802	-0.49	0.22541	N	0.999003	B	0.02656	0.0	B	0.01281	0.0	T	0.73871	-0.3846	10	0.16420	T	0.52	.	5.4035	0.16308	0.0:0.7633:0.0:0.2367	.	15	Q09470	KCNA1_HUMAN	V	15	ENSP00000371985:A15V	ENSP00000228858:A15V	A	+	2	0	KCNA1	4890849	0.895000	0.30542	0.997000	0.53966	0.995000	0.86356	2.408000	0.44574	2.093000	0.63338	0.555000	0.69702	GCC	KCNA1	-	NULL		0.711	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020588	1	no_errors	ENST00000382545	ensembl	human	known	70_37	missense	SNP	0.627	T	T	5020588	C	T	5020588	3	4	58	1	0	0	0	0	1	0	0	0	8021	739	26	4	46	4	KCNA1	12	5020588	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2112186	5020588	128831307	815	8565										
NCAPD2	9918	genome.wustl.edu	37	chr12	6639978	6639978	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccatcagccaagaaaccatCcactggtacgtaaggcagcc	9	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6639978C>G	ENST00000315579.5	+	30	4758	c.3959C>G	c.(3958-3960)tCc>tGc	p.S1320C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S1275C|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1320					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.S1320C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAGAAACCATCCACTGGTACG	0.532																																																	1	Substitution - Missense(1)	cervix(1)											63	64	64					12																	6639978		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3959C>G	12.37:g.6639978C>G	ENSP00000325017:p.Ser1320Cys		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.S1320C	ENST00000315579.5	37	c.3959	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600060	0.46318	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.19669	2.4;2.13	5.42	-0.186	0.13272	.	2.410330	0.01107	N	0.005482	T	0.16599	0.0399	N	0.22421	0.69	0.09310	N	1	P;P	0.39964	0.697;0.661	B;B	0.40565	0.333;0.293	T	0.18147	-1.0346	10	0.56958	D	0.05	0.0122	4.8905	0.13724	0.1091:0.451:0.3207:0.1191	.	1275;1320	F5GZJ1;Q15021	.;CND1_HUMAN	C	1320;1275	ENSP00000325017:S1320C;ENSP00000444417:S1275C	ENSP00000325017:S1320C	S	+	2	0	NCAPD2	6510239	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.084000	0.11268	0.206000	0.20587	0.561000	0.74099	TCC	NCAPD2	-	pirsf_Condensin_cplx_su1		0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	C	NM_014865		6639978	1	no_errors	ENST00000315579	ensembl	human	known	70_37	missense	SNP	0.000	G	G	6639978	C	G	6639978	3	3	58	1	0	0	0	0	1	0	0	0	10229	855	30	1	4073	1	NCAPD2	12	6639978	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1619390	6639978	127211917	816	8566										
GAPDH	2597	genome.wustl.edu	37	chr12	6646823	6646823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaactgtggcgtgatggccGcggggctctccagaacatca	14	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6646823G>T	ENST00000229239.5	+	8	1265	c.599G>T	c.(598-600)cGc>cTc	p.R200L	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.R200L|GAPDH_ENST00000396856.1_Missense_Mutation_p.R125L|GAPDH_ENST00000396858.1_Missense_Mutation_p.R158L|GAPDH_ENST00000396859.1_Missense_Mutation_p.R200L	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	200					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.R200L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CGTGATGGCCGCGGGGCTCTC	0.622											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											26	27	27					12																	6646823		2202	4298	6500	SO:0001583	missense	2597			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.599G>T	12.37:g.6646823G>T	ENSP00000229239:p.Arg200Leu	635	E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.R200L	ENST00000229239.5	37	c.599	CCDS8549.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019439	0.75275	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.81	4.81	0.61882	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.058843	0.64402	D	0.000003	T	0.75376	0.3841	H	0.99347	4.525	0.50039	D	0.999843	B;B;B;B;B	0.31581	0.329;0.329;0.329;0.044;0.044	B;B;B;B;B	0.35899	0.18;0.213;0.18;0.112;0.087	D	0.83615	0.0136	10	0.87932	D	0	.	17.8972	0.88892	0.0:0.0:1.0:0.0	.	158;175;200;125;200	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	L	200;125;200;200;158	ENSP00000229239:R200L;ENSP00000380065:R125L;ENSP00000380070:R200L;ENSP00000380068:R200L;ENSP00000380067:R158L	ENSP00000229239:R200L	R	+	2	0	GAPDH	6517084	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	9.691000	0.98679	2.226000	0.72624	0.511000	0.50034	CGC	GAPDH	-	pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1		0.622	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	HGNC	protein_coding	OTTHUMT00000268059.1	G	NM_002046		6646823	1	no_errors	ENST00000229239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6646823	G	T	6646823	3	4	58	1	0	0	0	0	1	0	0	0	6255	1087	38	2	625	2	GAPDH	12	6646823	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6845	6646823	127205072	817	8567										
ZNF384	171017	genome.wustl.edu	37	chr12	6782423	6782423	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagagctggcggaaggatttCtcacagaagttacaactgta	12	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6782423C>T	ENST00000396801.3	-	7	1077	c.870G>A	c.(868-870)gaG>gaA	p.E290E	ZNF384_ENST00000396795.1_Silent_p.E290E|ZNF384_ENST00000361959.3_Silent_p.E290E|ZNF384_ENST00000319770.3_Silent_p.E274E|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396799.2_Silent_p.E290E|ZNF384_ENST00000355772.4_Silent_p.E235E	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	290					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E290E(2)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGAAGGATTTCTCACAGAAGT	0.562			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	2	Substitution - coding silent(2)	cervix(2)											132	110	117					12																	6782423		2203	4300	6503	SO:0001819	synonymous_variant	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.870G>A	12.37:g.6782423C>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E290	ENST00000396801.3	37	c.870	CCDS44817.1	12																																																																																			ZNF384	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	C			6782423	-1	no_errors	ENST00000361959	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6782423	C	T	6782423	2	4	58	1	0	0	0	0	0	0	0	1	17905	912	32	1		1	ZNF384	12	6782423	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	135600	6782423	127069472	818	8568										
GNB3	2784	genome.wustl.edu	37	chr12	6954849	6954849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctgatctgcttctcccacGagagcatcatctgcggcatc	9	14	4	2	rs150593798		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6954849G>A	ENST00000229264.3	+	10	1204	c.799G>A	c.(799-801)Gag>Aag	p.E267K	CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.E266K|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	267					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.E267K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CTTCTCCCACGAGAGCATCAT	0.592																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	158	145	150		799	4.5	1	12	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GNB3	NM_002075.2	56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	267/341	6954849	3,13003	2203	4300	6503	SO:0001583	missense	2784				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.799G>A	12.37:g.6954849G>A	ENSP00000229264:p.Glu267Lys		Q96B71|Q9BQC0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.E267K	ENST00000229264.3	37	c.799	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842059	0.51057	2.27E-4	2.33E-4	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.01304	5.03;5.03;5.05	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179933	0.49305	D	0.000155	T	0.02533	0.0077	M	0.69463	2.115	0.43043	D	0.994639	P;B	0.40050	0.7;0.034	B;B	0.33454	0.164;0.027	T	0.58967	-0.7542	10	0.41790	T	0.15	-6.0329	17.3724	0.87382	0.0:0.0:1.0:0.0	.	266;267	E9PCP0;P16520	.;GBB3_HUMAN	K	267;266;226	ENSP00000229264:E267K;ENSP00000414734:E266K;ENSP00000445967:E226K	ENSP00000229264:E267K	E	+	1	0	GNB3	6825110	1.000000	0.71417	0.972000	0.41901	0.212000	0.24457	4.146000	0.58072	2.313000	0.78055	0.561000	0.74099	GAG	GNB3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat_dom		0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB3	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6954849	1	no_errors	ENST00000229264	ensembl	human	known	70_37	missense	SNP	0.998	A	A	6954849	G	A	6954849	3	1	58	1	0	0	0	0	1	0	0	0	6538	1059	37	1	829	1	GNB3	12	6954849	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	172426	6954849	126897046	819	8569										
CD163	9332	genome.wustl.edu	37	chr12	7633798	7633798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatcatctgcattcaggcaaGaattcatctcccggtattga	8	10	5	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:7633798G>A	ENST00000359156.4	-	15	3504	c.3302C>T	c.(3301-3303)tCt>tTt	p.S1101F	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.S1089F|CD163_ENST00000396620.3_Missense_Mutation_p.S1134F|CD163_ENST00000432237.2_Missense_Mutation_p.S1101F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1101					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S1101Y(1)|p.S1101F(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATTCAGGCAAGAATTCATCTC	0.453																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											136	130	132					12																	7633798		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3302C>T	12.37:g.7633798G>A	ENSP00000352071:p.Ser1101Phe		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.S1101F	ENST00000359156.4	37	c.3302	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337223	0.60963	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01279	5.06;5.07;5.06;5.07	4.75	3.86	0.44501	.	0.386104	0.19606	N	0.110269	T	0.02848	0.0085	L	0.29908	0.895	0.34242	D	0.677753	D;B;D	0.71674	0.998;0.012;0.998	P;B;P	0.61940	0.896;0.008;0.896	T	0.48502	-0.9030	10	0.54805	T	0.06	.	6.5365	0.22357	0.1903:0.0:0.8097:0.0	.	1134;1101;1101	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	1101;1089;1134;1101	ENSP00000352071:S1101F;ENSP00000444071:S1089F;ENSP00000379863:S1134F;ENSP00000403885:S1101F	ENSP00000352071:S1101F	S	-	2	0	CD163	7525065	0.973000	0.33851	0.985000	0.45067	0.950000	0.60333	1.844000	0.39269	2.634000	0.89283	0.455000	0.32223	TCT	CD163	-	NULL		0.453	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	G	NM_004244, NM_203416		7633798	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	0.984	A	A	7633798	G	A	7633798	3	1	58	1	0	0	0	0	1	0	0	0	2972	942	33	1	176	1	CD163	12	7633798	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	678949	7633798	126218097	820	8570										
SLC2A3	6515	genome.wustl.edu	37	chr12	8085688	8085688	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagacgtgagcagcacctcaGagggtggggcatttcccttg	15	10	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:8085688G>C	ENST00000075120.7	-	3	404	c.164C>G	c.(163-165)tCt>tGt	p.S55C		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	55					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.S55C(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGCACCTCAGAGGGTGGGGC	0.478											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(96;424 1461 14416 20933 23688)												1	Substitution - Missense(1)	cervix(1)											112	102	106					12																	8085688		2203	4300	6503	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.164C>G	12.37:g.8085688G>C	ENSP00000075120:p.Ser55Cys	646	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S55C	ENST00000075120.7	37	c.164	CCDS8586.1	12	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802474	0.50315	.	.	ENSG00000059804	ENST00000075120;ENST00000544291	T;D	0.87103	-0.96;-2.21	4.17	-0.162	0.13367	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.637474	0.16192	N	0.225348	D	0.89441	0.6716	M	0.68728	2.09	0.09310	N	1	D	0.53745	0.962	P	0.58577	0.841	T	0.82045	-0.0652	10	0.66056	D	0.02	.	9.813	0.40835	0.0:0.537:0.3351:0.1279	.	55	P11169	GTR3_HUMAN	C	55;24	ENSP00000075120:S55C;ENSP00000440750:S24C	ENSP00000075120:S55C	S	-	2	0	SLC2A3	7976955	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.306000	0.33505	-0.146000	0.11274	0.462000	0.41574	TCT	SLC2A3	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.478	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1	G	NM_006931		8085688	-1	no_errors	ENST00000075120	ensembl	human	known	70_37	missense	SNP	0.000	C	C	8085688	G	C	8085688	3	2	58	1	0	0	0	0	1	0	0	0	14575	942	33	1	1358	1	SLC2A3	12	8085688	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	451890	8085688	125766207	821	8571										
RIMKLB	57494	genome.wustl.edu	37	chr12	8906507	8906507	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taaagctgttttcttggctcGagataagcaccatttggctg	10	8	1	1	rs369058701		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:8906507G>C	ENST00000538135.1	+	5	1340	c.515G>C	c.(514-516)cGa>cCa	p.R172P	RIMKLB_ENST00000535829.1_Missense_Mutation_p.R172P|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R172P			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCTTGGCTCGAGATAAGCAC	0.388																																																	0													94	82	86					12																	8906507		1884	4110	5994	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.515G>C	12.37:g.8906507G>C	ENSP00000440943:p.Arg172Pro		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.R172P	ENST00000538135.1	37	c.515	CCDS41748.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358970	0.82353	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	4.83	0.62350	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.000000	0.64402	U	0.000004	T	0.63827	0.2544	L	0.28274	0.84	0.80722	D	1	D;D	0.62365	0.991;0.988	P;D	0.63488	0.861;0.915	T	0.68903	-0.5286	9	0.87932	D	0	.	16.8371	0.85959	0.0:0.0:1.0:0.0	.	172;172	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	P	172	.	ENSP00000350136:R172P	R	+	2	0	RIMKLB	8797774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.835000	0.92100	2.379000	0.81126	0.591000	0.81541	CGA	RIMKLB	-	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX		0.388	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	G	NM_020734		8906507	1	no_errors	ENST00000357529	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8906507	G	C	8906507	3	2	58	1	0	0	0	0	1	0	0	0	13396	1058	37	1	529	1	RIMKLB	12	8906507	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	820819	8906507	124945388	822	8572										
M6PR	4074	genome.wustl.edu	37	chr12	9095088	9095088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttggctcccactaccagtCgctggtataggaacccccca	8	16	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:9095088C>T	ENST00000000412.3	-	6	1103	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	212					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)	p.R212Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	CACTACCAGTCGCTGGTATAG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											125	116	119					12																	9095088		2203	4300	6503	SO:0001583	missense	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.635G>A	12.37:g.9095088C>T	ENSP00000000412:p.Arg212Gln		A8K528|D3DUV5	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt	p.R212Q	ENST00000000412.3	37	c.635	CCDS8598.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.734322|5.734322	0.96865|0.96865	.|.	.|.	ENSG00000003056|ENSG00000003056	ENST00000539143;ENST00000537621|ENST00000000412;ENST00000544193;ENST00000543704	.|T	.|0.28069	.|1.63	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55529|0.55529	0.1926|0.1926	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.43114|0.43114	-0.9411|-0.9411	5|10	.|0.29301	.|T	.|0.29	-17.3306|-17.3306	19.5549|19.5549	0.95342|0.95342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|212	.|P20645	.|MPRD_HUMAN	N|Q	23;90|212;9;83	.|ENSP00000000412:R212Q	.|ENSP00000000412:R212Q	D|R	-|-	1|2	0|0	M6PR|M6PR	8986355|8986355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAC|CGA	M6PR	-	prints_Man_6_P_rcpt		0.468	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	M6PR	HGNC	protein_coding	OTTHUMT00000399130.1	C			9095088	-1	no_errors	ENST00000000412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9095088	C	T	9095088	3	4	58	1	0	0	0	0	1	0	0	0	9163	884	31	1	206	1	M6PR	12	9095088	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	188581	9095088	124756807	823	8573										
GRIN2B	2904	genome.wustl.edu	37	chr12	13768193	13768193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actgccatgtaggccctcttCatgaccacctaaaagaaagg	8	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:13768193C>T	ENST00000609686.1	-	7	1718	c.1509G>A	c.(1507-1509)atG>atA	p.M503I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	503					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.M503I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGCCCTCTTCATGACCACCT	0.493																																																	1	Substitution - Missense(1)	cervix(1)											103	89	94					12																	13768193		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1509G>A	12.37:g.13768193C>T	ENSP00000477455:p.Met503Ile		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M503I	ENST00000609686.1	37	c.1509	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739250	0.49045	.	.	ENSG00000150086	ENST00000279593	T	0.26957	1.7	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.211175	0.52532	D	0.000077	T	0.13243	0.0321	N	0.03608	-0.345	0.35761	D	0.820185	B	0.11235	0.004	B	0.19946	0.027	T	0.11567	-1.0582	10	0.66056	D	0.02	.	11.0313	0.47774	0.1226:0.7054:0.172:0.0	.	503	Q13224	NMDE2_HUMAN	I	503	ENSP00000279593:M503I	ENSP00000279593:M503I	M	-	3	0	GRIN2B	13659460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.009000	0.40903	2.941000	0.99782	0.655000	0.94253	ATG	GRIN2B	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	C			13768193	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13768193	C	T	13768193	3	4	58	1	0	0	0	0	1	0	0	0	6800	826	29	1	2973	1	GRIN2B	12	13768193	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4673105	13768193	120083702	824	8574										
GUCY2C	2984	genome.wustl.edu	37	chr12	14836077	14836077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttttccaaaagttaaccaaGaagtacatcaactttctagc	5	9	2	1	rs56003832	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:14836077G>C	ENST00000261170.3	-	4	646	c.510C>G	c.(508-510)ttC>ttG	p.F170L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	170					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGTTAACCAAGAAGTACATCA	0.408																																																	0													98	91	94					12																	14836077		2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.510C>G	12.37:g.14836077G>C	ENSP00000261170:p.Phe170Leu		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.F170L	ENST00000261170.3	37	c.510	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664780	0.47572	.	.	ENSG00000070019	ENST00000261170	D	0.82803	-1.65	5.46	2.58	0.30949	Extracellular ligand-binding receptor (1);	0.107097	0.64402	D	0.000004	T	0.79569	0.4468	L	0.52905	1.665	0.44728	D	0.997723	P	0.36249	0.545	B	0.44315	0.446	T	0.71185	-0.4667	10	0.25751	T	0.34	.	6.3929	0.21597	0.3086:0.0:0.6914:0.0	.	170	P25092	GUC2C_HUMAN	L	170	ENSP00000261170:F170L	ENSP00000261170:F170L	F	-	3	2	GUCY2C	14727344	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.229000	0.42990	0.645000	0.30675	0.655000	0.94253	TTC	GUCY2C	-	pfam_ANF_lig-bd_rcpt		0.408	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	G			14836077	-1	no_errors	ENST00000261170	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14836077	G	C	14836077	3	2	58	1	0	0	0	0	1	0	0	0	6916	933	33	1	2807	1	GUCY2C	12	14836077	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1067884	14836077	119015818	825	8575										
SLCO1C1	53919	genome.wustl.edu	37	chr12	20854329	20854329	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgaagagcaccatcactcaGatagagagaaggtttgatat	10	7	2	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:20854329G>C	ENST00000266509.2	+	3	575	c.207G>C	c.(205-207)caG>caC	p.Q69H	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Q69H|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.Q69H|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Q69H	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	69					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q69H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCATCACTCAGATAGAGAGAA	0.408																																																	1	Substitution - Missense(1)	cervix(1)											231	183	199					12																	20854329		2203	4300	6503	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.207G>C	12.37:g.20854329G>C	ENSP00000266509:p.Gln69His		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.Q69H	ENST00000266509.2	37	c.207	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104849	0.56291	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.09	2.04	0.26737	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.85859	2.78	0.42758	D	0.993794	D;D;P	0.59357	0.985;0.985;0.93	D;D;P	0.67382	0.951;0.951;0.893	T	0.63139	-0.6704	10	0.59425	D	0.04	.	8.3177	0.32111	0.408:0.0:0.592:0.0	.	69;69;69	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	H	69	ENSP00000444149:Q69H;ENSP00000438665:Q69H;ENSP00000266509:Q69H;ENSP00000370964:Q69H	ENSP00000266509:Q69H	Q	+	3	2	SLCO1C1	20745596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.027000	0.41078	0.639000	0.30564	0.655000	0.94253	CAG	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	G	NM_017435		20854329	1	no_errors	ENST00000381552	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20854329	G	C	20854329	3	2	58	1	0	0	0	0	1	0	0	0	14755	933	33	1	213	1	SLCO1C1	12	20854329	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6018252	20854329	112997566	826	8576										
LDHB	3945	genome.wustl.edu	37	chr12	21790116	21790116	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtatatccttttagcttgatGacttcataggcacttaaaaa	6	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:21790116G>A	ENST00000396076.1	-	7	1058	c.726C>T	c.(724-726)gtC>gtT	p.V242V	LDHB_ENST00000350669.1_Silent_p.V242V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	242					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.V242V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TTAGCTTGATGACTTCATAGG	0.358																																																	1	Substitution - coding silent(1)	cervix(1)											85	87	86					12																	21790116		2203	4299	6502	SO:0001819	synonymous_variant	3945				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.726C>T	12.37:g.21790116G>A				Silent	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.V242	ENST00000396076.1	37	c.726	CCDS8691.1	12																																																																																			LDHB	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.358	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHB	HGNC	protein_coding	OTTHUMT00000258220.2	G	NM_002300		21790116	-1	no_errors	ENST00000350669	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21790116	G	A	21790116	2	1	58	1	0	0	0	0	0	0	0	1	8721	1277	45	1		1	LDHB	12	21790116	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	935787	21790116	112061779	827	8577										
DDX11	1663	genome.wustl.edu	37	chr12	31244671	31244671	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctggtggtgctgccctatCagatgctgctgcatgcggcc	14	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:31244671C>T	ENST00000407793.2	+	10	1359	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	DDX11_ENST00000545668.1_Nonsense_Mutation_p.Q370*|DDX11_ENST00000228264.6_Nonsense_Mutation_p.Q344*|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Nonsense_Mutation_p.Q370*|DDX11_ENST00000542838.1_Nonsense_Mutation_p.Q370*	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	370	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q370*(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGCCCTATCAGATGCTGCT	0.657										Multiple Myeloma(12;0.14)																																							2	Substitution - Nonsense(2)	cervix(2)											14	15	15					12																	31244671		2162	4230	6392	SO:0001587	stop_gained	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1108C>T	12.37:g.31244671C>T	ENSP00000384703:p.Gln370*		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.Q370*	ENST00000407793.2	37	c.1108	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.023242	0.98010	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	.	.	.	3.05	3.05	0.35203	.	0.185640	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	11.6158	0.51090	0.0:1.0:0.0:0.0	.	.	.	.	X	370;370;95;344;370;370	.	ENSP00000228264:Q344X	Q	+	1	0	DDX11	31135938	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.995000	0.76257	1.535000	0.49220	0.505000	0.49811	CAG	DDX11	-	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3		0.657	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	C	NM_030653		31244671	1	no_errors	ENST00000407793	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	31244671	C	T	31244671	4	4	58	1	0	0	0	0	0	1	0	0	4348	827	29	1	1142	1	DDX11	12	31244671	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9454555	31244671	102607224	828	8578										
DNM1L	10059	genome.wustl.edu	37	chr12	32890800	32890800	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggattttttgcctttagtCttctaaagttccaagtgctt	7	8	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:32890800C>T	ENST00000549701.1	+	15	1672	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	DNM1L_ENST00000452533.2_Intron|DNM1L_ENST00000266481.6_Intron|DNM1L_ENST00000553257.1_Splice_Site_p.S546F|DNM1L_ENST00000381000.4_Splice_Site_p.S546F|DNM1L_ENST00000358214.5_Intron|DNM1L_ENST00000547312.1_Splice_Site_p.S533F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Splice_Site_p.S330F			O00429	DNM1L_HUMAN	dynamin 1-like	533	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.S533F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCCTTTAGTCTTCTAAAGTT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											64	63	64					12																	32890800		2203	4300	6503	SO:0001630	splice_region_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1597-1C>T	12.37:g.32890800C>T			A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.S546F	ENST00000549701.1	37	c.1637	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834928	0.50951	.	.	ENSG00000087470	ENST00000411996;ENST00000553257;ENST00000549701;ENST00000547312;ENST00000414834;ENST00000381000	D;D;D;T;D	0.90788	-2.71;-2.71;-2.72;-1.37;-2.73	5.53	5.53	0.82687	.	1.012920	0.07952	N	0.981106	D	0.85075	0.5614	N	0.08118	0	0.80722	D	1	B;B;B;B	0.10296	0.001;0.0;0.003;0.0	B;B;B;B	0.09377	0.002;0.001;0.004;0.001	T	0.68341	-0.5434	10	0.56958	D	0.05	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	330;586;599;533	B4DGC9;D3DUW5;F8W8D1;O00429	.;.;.;DNM1L_HUMAN	F	599;546;533;533;330;546	ENSP00000449089:S546F;ENSP00000450399:S533F;ENSP00000448610:S533F;ENSP00000404160:S330F;ENSP00000370388:S546F	ENSP00000370388:S546F	S	+	2	0	DNM1L	32782067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.157000	0.64911	2.605000	0.88082	0.655000	0.94253	TCT	DNM1L	-	NULL		0.433	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	C	NM_012062	Missense_Mutation	32890800	1	no_errors	ENST00000553257	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32890800	C	T	32890800	5	4	58	1	0	0	0	0	0	0	1	0	4681	927	32	1	1656	1	DNM1L	12	32890800	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1646129	32890800	100961095	829	8579										
KIF21A	55605	genome.wustl.edu	37	chr12	39760894	39760894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtaaaaatggcatgtgaacGagagctctgaacattcatct	10	7	3	3	rs567275114		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:39760894G>A	ENST00000361418.5	-	5	688	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIF21A_ENST00000544797.2_Missense_Mutation_p.R225C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R225C|KIF21A_ENST00000395670.3_Missense_Mutation_p.R225C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R225C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	225	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R225C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCATGTGAACGAGAGCTCTGA	0.393													G|||	1	0.000199681	0	0	5008	,	,		18178	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											138	123	128					12																	39760894		2203	4300	6503	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.673C>T	12.37:g.39760894G>A	ENSP00000354878:p.Arg225Cys		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R225C	ENST00000361418.5	37	c.673	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.105969	0.94292	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.33	5.33	0.75918	Kinesin, motor domain (5);	0.000000	0.53938	D	0.000047	D	0.95947	0.8680	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	D	0.97192	0.9858	10	0.87932	D	0	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	225;225;225;225;225	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	C	225;225;225;225;225;225;48	ENSP00000354851:R225C;ENSP00000379029:R225C;ENSP00000445606:R225C;ENSP00000354878:R225C;ENSP00000438075:R225C;ENSP00000449700:R48C	ENSP00000344501:R225C	R	-	1	0	KIF21A	38047161	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.451000	0.80668	2.498000	0.84270	0.655000	0.94253	CGT	KIF21A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	G	NM_017641		39760894	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39760894	G	A	39760894	3	1	58	1	0	0	0	0	1	0	0	0	8308	1058	37	1	4487	1	KIF21A	12	39760894	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6870094	39760894	94091001	830	8580										
C12orf40	283461	genome.wustl.edu	37	chr12	40040240	40040240	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactgtgtaccttctaaactCtgccttgatgatacagaaac	6	11	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:40040240C>G	ENST00000324616.5	+	4	466	c.312C>G	c.(310-312)ctC>ctG	p.L104L	C12orf40_ENST00000405531.3_Silent_p.L104L|C12orf40_ENST00000398716.1_Silent_p.L27L	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	104								p.L104L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTCTAAACTCTGCCTTGATG	0.343																																																	1	Substitution - coding silent(1)	cervix(1)											149	144	146					12																	40040240		1828	4085	5913	SO:0001819	synonymous_variant	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.312C>G	12.37:g.40040240C>G			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.L104	ENST00000324616.5	37	c.312	CCDS41770.1	12																																																																																			C12orf40	-	NULL		0.343	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	C	NM_173599		40040240	1	no_errors	ENST00000324616	ensembl	human	known	70_37	silent	SNP	0.613	G	G	40040240	C	G	40040240	2	3	58	1	0	0	0	0	0	0	0	1	1690	900	32	1		1	C12orf40	12	40040240	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	279346	40040240	93811655	831	8581										
YAF2	10138	genome.wustl.edu	37	chr12	42554402	42554402	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaataaactttaatgagattCtccattcaatgatgaggctt	6	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:42554402C>T	ENST00000534854.2	-	4	599	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	YAF2_ENST00000442791.3_Missense_Mutation_p.E202K|YAF2_ENST00000327791.4_Missense_Mutation_p.E154K|YAF2_ENST00000380788.3_Missense_Mutation_p.E169K|YAF2_ENST00000380790.4_Missense_Mutation_p.E136K	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	178					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E178K(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TAATGAGATTCTCCATTCAAT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											89	88	88					12																	42554402		2203	4300	6503	SO:0001583	missense	10138			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.532G>A	12.37:g.42554402C>T	ENSP00000439256:p.Glu178Lys		A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E202K	ENST00000534854.2	37	c.604	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774246	0.90108	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.71674	0.996;0.997;0.998;0.993	D;D;D;D	0.78314	0.987;0.98;0.991;0.971	T	0.77466	-0.2577	9	0.66056	D	0.02	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	136;169;154;178	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	K	154;202;178;136;169	.	ENSP00000328004:E154K	E	-	1	0	YAF2	40840669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.408000	0.80041	2.699000	0.92147	0.655000	0.94253	GAA	YAF2	-	NULL		0.413	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	C			42554402	-1	no_errors	ENST00000442791	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42554402	C	T	42554402	3	4	58	1	0	0	0	0	1	0	0	0	17496	922	32	1	14	1	YAF2	12	42554402	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2514162	42554402	91297493	832	8582										
YAF2	10138	genome.wustl.edu	37	chr12	42554468	42554468	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cattcctctctctgtgttatCagagctagagccgctttgac	8	12	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:42554468C>G	ENST00000534854.2	-	4	533	c.466G>C	c.(466-468)Gat>Cat	p.D156H	YAF2_ENST00000442791.3_Missense_Mutation_p.D180H|YAF2_ENST00000327791.4_Missense_Mutation_p.D132H|YAF2_ENST00000380788.3_Missense_Mutation_p.D147H|YAF2_ENST00000380790.4_Missense_Mutation_p.D114H	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	156					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D156H(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TCTGTGTTATCAGAGCTAGAG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											94	89	91					12																	42554468		2203	4300	6503	SO:0001583	missense	10138			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.466G>C	12.37:g.42554468C>G	ENSP00000439256:p.Asp156His		A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.D180H	ENST00000534854.2	37	c.538	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868053	0.72065	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.087859	0.85682	D	0.000000	T	0.72558	0.3475	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.65815	0.693;0.995;0.994;0.567	P;P;P;B	0.60473	0.478;0.819;0.875;0.224	T	0.73525	-0.3955	9	0.66056	D	0.02	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	114;147;132;156	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	H	132;180;156;114;147	.	ENSP00000328004:D132H	D	-	1	0	YAF2	40840735	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.390000	0.79816	2.699000	0.92147	0.655000	0.94253	GAT	YAF2	-	NULL		0.418	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	C			42554468	-1	no_errors	ENST00000442791	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42554468	C	G	42554468	3	3	58	1	0	0	0	0	1	0	0	0	17496	826	29	1	80	1	YAF2	12	42554468	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	66	42554468	91297427	833	8583										
SLC38A2	54407	genome.wustl.edu	37	chr12	46754939	46754939	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtacccaatccaaaacaatCaaggccatgcttccggtcat	6	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:46754939C>G	ENST00000256689.5	-	16	1920	c.1476G>C	c.(1474-1476)ttG>ttC	p.L492F	SLC38A2_ENST00000551374.1_Missense_Mutation_p.L330F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	492					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.L492F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCAAAACAATCAAGGCCATGC	0.428																																					Ovarian(9;448 492 8335 28722 40361)												1	Substitution - Missense(1)	cervix(1)											105	89	95					12																	46754939		2203	4299	6502	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1476G>C	12.37:g.46754939C>G	ENSP00000256689:p.Leu492Phe		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L492F	ENST00000256689.5	37	c.1476	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	C	4.349	0.064207	0.08388	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02158	4.42;4.42	6.05	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.46741	1.465	0.58432	D	0.999999	B;D;D	0.89917	0.076;1.0;1.0	B;D;D	0.83275	0.108;0.996;0.994	T	0.48198	-0.9056	10	0.21540	T	0.41	-14.3857	16.9553	0.86257	0.0:0.8623:0.1377:0.0	.	330;392;492	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	F	492;330	ENSP00000256689:L492F;ENSP00000450406:L330F	ENSP00000256689:L492F	L	-	3	2	SLC38A2	45041206	1.000000	0.71417	0.997000	0.53966	0.702000	0.40608	1.746000	0.38288	1.529000	0.49120	0.650000	0.86243	TTG	SLC38A2	-	pfam_AA_transpt_TM		0.428	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	C			46754939	-1	no_errors	ENST00000256689	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46754939	C	G	46754939	3	3	58	1	0	0	0	0	1	0	0	0	14634	825	29	1	48	1	SLC38A2	12	46754939	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4200471	46754939	87096956	834	8584										
MLL2	8085	genome.wustl.edu	37	chr12	49425638	49425638	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggagccggggtgggccctGaggtcgaggccctgccccta	18	13	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:49425638G>A	ENST00000301067.7	-	39	12849	c.12850C>T	c.(12850-12852)Cag>Tag	p.Q4284*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4284	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q4284*(1)|p.Q4014*(1)									GGTGGGCCCTGAGGTCGAGGC	0.677																																																	2	Substitution - Nonsense(2)	cervix(2)											38	42	41					12																	49425638		1909	4101	6010	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12850C>T	12.37:g.49425638G>A	ENSP00000301067:p.Gln4284*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q4284*	ENST00000301067.7	37	c.12850	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	53	20.686397	0.99933	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.27	4.27	0.50696	.	0.000000	0.34555	N	0.003867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6692	0.85261	0.0:0.0:1.0:0.0	.	.	.	.	X	4284	.	ENSP00000301067:Q4284X	Q	-	1	0	MLL2	47711905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.005000	0.49521	2.678000	0.91216	0.655000	0.94253	CAG	MLL2	-	NULL		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49425638	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49425638	G	A	49425638	4	1	58	1	0	0	0	0	0	1	0	0	9644	1299	45	1	3827	1	MLL2	12	49425638	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2670699	49425638	84426257	835	8585										
SLC11A2	4891	genome.wustl.edu	37	chr12	51394105	51394105	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaacccctcaccttcctacaGacagaagattgatagcaatg	6	12	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:51394105G>C	ENST00000262051.7	-	6	614	c.527C>G	c.(526-528)tCt>tGt	p.S176C	SLC11A2_ENST00000541174.2_Missense_Mutation_p.S176C|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S205C|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S172C|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S176C|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S176C|SLC11A2_ENST00000394904.3_Missense_Mutation_p.S205C|SLC11A2_ENST00000546743.1_Missense_Mutation_p.S97C	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	176					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S176C(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTTCCTACAGACAGAAGATT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											105	98	100					12																	51394105		2203	4300	6503	SO:0001583	missense	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.527C>G	12.37:g.51394105G>C	ENSP00000262051:p.Ser176Cys		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	p.S205C	ENST00000262051.7	37	c.614	CCDS53792.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448927	0.84101	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000546488;ENST00000547579;ENST00000550714;ENST00000547732	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.931	D;D;D;D;D;P	0.87578	0.998;0.997;0.998;0.998;0.998;0.695	D	0.87488	0.2425	10	0.87932	D	0	-24.493	15.7666	0.78131	0.0:0.1366:0.8634:0.0	.	139;172;205;176;25;176	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	C	176;176;176;205;205;176;172;97;94;97;129;97	ENSP00000262051:S176C;ENSP00000446769:S176C;ENSP00000262052:S176C;ENSP00000378364:S205C;ENSP00000449200:S205C;ENSP00000444542:S176C;ENSP00000442810:S172C;ENSP00000446914:S97C;ENSP00000450389:S94C;ENSP00000447482:S97C;ENSP00000446984:S129C;ENSP00000447102:S97C	ENSP00000262051:S176C	S	-	2	0	SLC11A2	49680372	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	7.491000	0.81471	2.941000	0.99782	0.655000	0.94253	TCT	SLC11A2	-	pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp		0.428	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	G			51394105	-1	no_errors	ENST00000394904	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51394105	G	C	51394105	3	2	58	1	0	0	0	0	1	0	0	0	14411	942	33	1	1284	1	SLC11A2	12	51394105	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1968467	51394105	82457790	836	8586										
KRT86	3892	genome.wustl.edu	37	chr12	52702236	52702236	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtggcgatctctgcgcctCcactactgcccctgttgtct	9	16	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:52702236C>G	ENST00000423955.2	+	11	1506	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C	KRT86_ENST00000544024.1_Missense_Mutation_p.S443C|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Missense_Mutation_p.S443C			O43790	KRT86_HUMAN	keratin 86	443	Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S443C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTGCGCCTCCACTACTGCC	0.677																																																	1	Substitution - Missense(1)	cervix(1)											21	25	23					12																	52702236		2202	4299	6501	SO:0001583	missense	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1328C>G	12.37:g.52702236C>G	ENSP00000444533:p.Ser443Cys		P78387	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S443C	ENST00000423955.2	37	c.1328	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301978	0.40694	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.82344	-1.6;-1.6;-1.6	5.55	4.66	0.58398	.	0.443902	0.15937	U	0.237389	T	0.80099	0.4561	L	0.49126	1.545	0.09310	N	1	P	0.35527	0.507	B	0.37091	0.241	T	0.71820	-0.4477	10	0.51188	T	0.08	.	12.8776	0.57999	0.0:0.6503:0.3497:0.0	.	443	O43790	KRT86_HUMAN	C	443	ENSP00000443169:S443C;ENSP00000444533:S443C;ENSP00000293525:S443C	ENSP00000293525:S443C	S	+	2	0	AC021066.1;KRT86	50988503	0.012000	0.17670	0.058000	0.19502	0.686000	0.39977	1.715000	0.37971	1.315000	0.45114	0.561000	0.74099	TCC	KRT86	-	NULL		0.677	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	C	NM_002284		52702236	1	no_errors	ENST00000293525	ensembl	human	known	70_37	missense	SNP	0.114	G	G	52702236	C	G	52702236	3	3	58	1	0	0	0	0	1	0	0	0	8520	855	30	1	1362	1	KRT86	12	52702236	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1308131	52702236	81149659	837	8587										
KRT71	112802	genome.wustl.edu	37	chr12	52940165	52940165	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctggtactcgcgcagcatCcgcgccagctcctccttggc	10	18	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:52940165C>T	ENST00000267119.5	-	7	1299	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	410	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R410R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGCGCAGCATCCGCGCCAGCT	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											81	72	75					12																	52940165		2203	4300	6503	SO:0001819	synonymous_variant	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1230G>A	12.37:g.52940165C>T			B3KVC1|Q3SY85|Q96DU2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R410	ENST00000267119.5	37	c.1230	CCDS8831.1	12																																																																																			KRT71	-	pfam_F,superfamily_Prefoldin		0.657	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52940165	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	silent	SNP	0.775	T	T	52940165	C	T	52940165	2	4	58	1	0	0	0	0	0	0	0	1	8504	842	30	1		1	KRT71	12	52940165	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	237929	52940165	80911730	838	8588										
KRT1	3848	genome.wustl.edu	37	chr12	53072003	53072003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgcttgttgatttcatcctCatacctgcaggaaagcagaa	8	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:53072003C>G	ENST00000252244.3	-	3	869	c.811G>C	c.(811-813)Gag>Cag	p.E271Q		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	271	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ATTTCATCCTCATACCTGCAG	0.403																																																	1	Substitution - Missense(1)	cervix(1)											119	96	104					12																	53072003		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.811G>C	12.37:g.53072003C>G	ENSP00000252244:p.Glu271Gln		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E271Q	ENST00000252244.3	37	c.811	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565331	0.86439	.	.	ENSG00000167768	ENST00000252244	D	0.87571	-2.27	5.17	5.17	0.71159	Filament (1);	.	.	.	.	D	0.94518	0.8235	M	0.87456	2.885	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.95163	0.8283	9	0.87932	D	0	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	271	P04264	K2C1_HUMAN	Q	271	ENSP00000252244:E271Q	ENSP00000252244:E271Q	E	-	1	0	KRT1	51358270	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.815000	0.86186	2.579000	0.87056	0.655000	0.94253	GAG	KRT1	-	pfam_F,prints_Keratin_II		0.403	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	C	NM_006121		53072003	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53072003	C	G	53072003	3	3	58	1	0	0	0	0	1	0	0	0	8467	835	29	1	1151	1	KRT1	12	53072003	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	131838	53072003	80779892	839	8589										
NCKAP1L	3071	genome.wustl.edu	37	chr12	54925340	54925340	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aactttagcaagccggacttGatggcttccctgctgcccca	9	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:54925340G>C	ENST00000293373.6	+	24	2749	c.2670G>C	c.(2668-2670)ttG>ttC	p.L890F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L840F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	890					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.L890F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCCGGACTTGATGGCTTCCC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											106	101	103					12																	54925340		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2670G>C	12.37:g.54925340G>C	ENSP00000293373:p.Leu890Phe		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.L890F	ENST00000293373.6	37	c.2670	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840462	0.32513	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	4.79	1.73	0.24493	.	0.399608	0.22768	N	0.055876	T	0.17704	0.0425	L	0.29908	0.895	0.33646	D	0.607903	B	0.33413	0.411	B	0.34242	0.178	T	0.18272	-1.0342	10	0.56958	D	0.05	-3.0561	1.7174	0.02905	0.1863:0.1589:0.4914:0.1635	.	890	P55160	NCKPL_HUMAN	F	890;840	ENSP00000293373:L890F;ENSP00000445596:L840F	ENSP00000293373:L890F	L	+	3	2	NCKAP1L	53211607	0.996000	0.38824	0.898000	0.35279	0.794000	0.44872	0.670000	0.25157	0.721000	0.32231	0.655000	0.94253	TTG	NCKAP1L	-	pfam_Nck-associated_protein-1		0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	G	NM_005337		54925340	1	no_errors	ENST00000293373	ensembl	human	known	70_37	missense	SNP	0.797	C	C	54925340	G	C	54925340	3	2	58	1	0	0	0	0	1	0	0	0	10246	1281	45	1	2764	1	NCKAP1L	12	54925340	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1853337	54925340	78926555	840	8590										
OR6C65	403282	genome.wustl.edu	37	chr12	55795184	55795184	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccctttatttataccttaaGaaaccagcaggtgaaacagg	7	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:55795184G>A	ENST00000379665.2	+	1	971	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R291K(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATACCTTAAGAAACCAGCAG	0.358																																																	1	Substitution - Missense(1)	cervix(1)											51	51	51					12																	55795184		2203	4300	6503	SO:0001583	missense	403282				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.872G>A	12.37:g.55795184G>A	ENSP00000368986:p.Arg291Lys		B2RNH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R291K	ENST00000379665.2	37	c.872	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153989	0.57259	.	.	ENSG00000205328	ENST00000379665	T	0.39997	1.05	4.24	4.24	0.50183	.	0.000000	0.44483	U	0.000454	T	0.55081	0.1898	M	0.79614	2.46	0.26299	N	0.978004	P	0.51537	0.946	P	0.54026	0.74	T	0.53858	-0.8379	10	0.72032	D	0.01	.	10.3705	0.44051	0.0935:0.0:0.9065:0.0	.	291	A6NJZ3	O6C65_HUMAN	K	291	ENSP00000368986:R291K	ENSP00000368986:R291K	R	+	2	0	OR6C65	54081451	0.635000	0.27199	0.254000	0.24359	0.458000	0.32498	2.880000	0.48530	2.076000	0.62316	0.424000	0.28305	AGA	OR6C65	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.358	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	G			55795184	1	no_errors	ENST00000379665	ensembl	human	known	70_37	missense	SNP	0.968	A	A	55795184	G	A	55795184	3	1	58	1	0	0	0	0	1	0	0	0	11219	942	33	1	874	1	OR6C65	12	55795184	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	869844	55795184	78056711	841	8591										
TIMELESS	8914	genome.wustl.edu	37	chr12	56815235	56815235	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatccactattcgggcccgtGagcgtttggctgtgatattc	11	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56815235G>C	ENST00000553532.1	-	23	2918	c.2768C>G	c.(2767-2769)tCa>tGa	p.S923*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.S922*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.S420*					timeless circadian clock									p.S923*(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCGGGCCCGTGAGCGTTTGGC	0.478																																																	1	Substitution - Nonsense(1)	cervix(1)											140	140	140					12																	56815235		2203	4300	6503	SO:0001587	stop_gained	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2768C>G	12.37:g.56815235G>C	ENSP00000450607:p.Ser923*			Nonsense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.S923*	ENST00000553532.1	37	c.2768	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.800611	0.98958	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.29	4.34	0.51931	.	0.149414	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.0293	14.6558	0.68833	0.0:0.1465:0.8535:0.0	.	.	.	.	X	922;923;420	.	ENSP00000229201:S923X	S	-	2	0	TIMELESS	55101502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.010000	0.70753	2.653000	0.90120	0.555000	0.69702	TCA	TIMELESS	-	pfam_TIMELESS_C		0.478	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56815235	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	56815235	G	C	56815235	4	2	58	1	0	0	0	0	0	1	0	0	15934	1294	45	1	886	1	TIMELESS	12	56815235	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1020051	56815235	77036660	842	8592										
TIMELESS	8914	genome.wustl.edu	37	chr12	56822125	56822125	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagagcggggctggcatctCtcatcaaactttcgaaaaag	10	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56822125C>G	ENST00000553532.1	-	13	1623	c.1473G>C	c.(1471-1473)gaG>gaC	p.E491D	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E490D|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E491D(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGGCATCTCTCATCAAACT	0.502																																																	1	Substitution - Missense(1)	cervix(1)											56	48	51					12																	56822125		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1473G>C	12.37:g.56822125C>G	ENSP00000450607:p.Glu491Asp			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E491D	ENST00000553532.1	37	c.1473	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329500	0.81690	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07800	3.16;3.16	5.27	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72338	0.977;0.948	T	0.02829	-1.1105	10	0.35671	T	0.21	-20.0404	13.0087	0.58720	0.0:0.92:0.0:0.08	.	490;491	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	D	490;491	ENSP00000229201:E490D;ENSP00000450607:E491D	ENSP00000229201:E491D	E	-	3	2	TIMELESS	55108392	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.182000	0.50910	1.355000	0.45865	0.563000	0.77884	GAG	TIMELESS	-	NULL		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56822125	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56822125	C	G	56822125	3	3	58	1	0	0	0	0	1	0	0	0	15934	912	32	1	2221	1	TIMELESS	12	56822125	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6890	56822125	77029770	843	8593										
TIMELESS	8914	genome.wustl.edu	37	chr12	56822160	56822160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaaagtgccaggaatagttCtcggtactccatcacataga	8	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56822160C>G	ENST00000553532.1	-	13	1588	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E479Q|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E480Q(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGAATAGTTCTCGGTACTCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											47	41	43					12																	56822160		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1438G>C	12.37:g.56822160C>G	ENSP00000450607:p.Glu480Gln			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E480Q	ENST00000553532.1	37	c.1438	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.098208	0.94197	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07567	3.18;3.18	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.03086	-1.1074	10	0.45353	T	0.12	-16.5343	18.034	0.89293	0.0:1.0:0.0:0.0	.	479;480	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	479;480	ENSP00000229201:E479Q;ENSP00000450607:E480Q	ENSP00000229201:E480Q	E	-	1	0	TIMELESS	55108427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.961000	0.70356	2.636000	0.89361	0.563000	0.77884	GAA	TIMELESS	-	NULL		0.463	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56822160	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56822160	C	G	56822160	3	3	58	1	0	0	0	0	1	0	0	0	15934	922	32	1	2256	1	TIMELESS	12	56822160	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	35	56822160	77029735	844	8594										
BAZ2A	11176	genome.wustl.edu	37	chr12	56994157	56994157	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggttggtagttttacgctGaggtgccagtccctccctgc	13	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56994157G>A	ENST00000551812.1	-	24	4919	c.4726C>T	c.(4726-4728)Cag>Tag	p.Q1576*	BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.Q1544*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.Q1574*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.Q1546*|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1576					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q1576*(2)|p.Q1612*(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTTTTACGCTGAGGTGCCAGT	0.617																																																	3	Substitution - Nonsense(3)	cervix(3)											55	61	59					12																	56994157		2076	4198	6274	SO:0001587	stop_gained	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4726C>T	12.37:g.56994157G>A	ENSP00000446880:p.Gln1576*		B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q1576*	ENST00000551812.1	37	c.4726	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.223728	0.99362	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	.	.	.	5.32	4.42	0.53409	.	0.406539	0.27645	N	0.018441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-3.6433	8.9477	0.35769	0.0786:0.1516:0.7698:0.0	.	.	.	.	X	1546;1544;1576;508;1574	.	ENSP00000179765:Q1544X	Q	-	1	0	BAZ2A	55280424	0.391000	0.25221	0.999000	0.59377	0.884000	0.51177	1.887000	0.39698	1.616000	0.50265	0.655000	0.94253	CAG	BAZ2A	-	NULL		0.617	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	G	NM_013449		56994157	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	56994157	G	A	56994157	4	1	58	1	0	0	0	0	0	1	0	0	1332	1299	45	1	1015	1	BAZ2A	12	56994157	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	171997	56994157	76857738	845	8595										
BAZ2A	11176	genome.wustl.edu	37	chr12	56995142	56995142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagccaagggcgtggaagaGaactgcactggagaacaagg	15	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56995142G>C	ENST00000551812.1	-	21	4315	c.4122C>G	c.(4120-4122)ttC>ttG	p.F1374L	BAZ2A_ENST00000179765.5_Missense_Mutation_p.F1342L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F1372L|BAZ2A_ENST00000379441.3_Missense_Mutation_p.F1344L|BAZ2A_ENST00000553222.1_5'UTR	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1374	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F1374L(2)|p.F1410L(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCGTGGAAGAGAACTGCACTG	0.517																																																	3	Substitution - Missense(3)	cervix(3)											39	38	38					12																	56995142		1961	4133	6094	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4122C>G	12.37:g.56995142G>C	ENSP00000446880:p.Phe1374Leu		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.F1374L	ENST00000551812.1	37	c.4122	CCDS44924.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.265|2.265	-0.368283|-0.368283	0.05069|0.05069	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884|ENST00000547453	T;T;T;T;T|.	0.69175|.	-0.13;-0.13;-0.14;-0.38;-0.14|.	5.34|5.34	1.23|1.23	0.21249|0.21249	.|.	0.709180|.	0.13835|.	N|.	0.359437|.	T|T	0.09113|0.09113	0.0225|0.0225	N|N	0.01352|0.01352	-0.895|-0.895	0.24466|0.24466	N|N	0.99442|0.99442	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.35400|0.35400	-0.9790|-0.9790	10|5	0.08599|.	T|.	0.76|.	-15.8076|-15.8076	7.7637|7.7637	0.28968|0.28968	0.1435:0.2494:0.6071:0.0|0.1435:0.2494:0.6071:0.0	.|.	1372;1374;1374;1347|.	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2|.	.;.;BAZ2A_HUMAN;.|.	L|V	1344;1342;1374;310;1372|43	ENSP00000368754:F1344L;ENSP00000179765:F1342L;ENSP00000446880:F1374L;ENSP00000448760:F310L;ENSP00000447941:F1372L|.	ENSP00000179765:F1342L|.	F|L	-|-	3|1	2|0	BAZ2A|BAZ2A	55281409|55281409	0.949000|0.949000	0.32298|0.32298	0.238000|0.238000	0.24106|0.24106	0.981000|0.981000	0.71138|0.71138	0.565000|0.565000	0.23578|0.23578	0.019000|0.019000	0.15079|0.15079	0.655000|0.655000	0.94253|0.94253	TTC|CTC	BAZ2A	-	NULL		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	G	NM_013449		56995142	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	missense	SNP	0.979	C	C	56995142	G	C	56995142	3	2	58	1	0	0	0	0	1	0	0	0	1332	933	33	1	1631	1	BAZ2A	12	56995142	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	985	56995142	76856753	846	8596										
BAZ2A	11176	genome.wustl.edu	37	chr12	56995491	56995491	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcatcaggctctggctcctCcgggggttgtgatggagctg	15	11	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56995491C>A	ENST00000551812.1	-	20	4109	c.3916G>T	c.(3916-3918)Gag>Tag	p.E1306*	BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.E1274*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.E1304*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.E1276*|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1306	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1306*(2)|p.E1342*(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTGGCTCCTCCGGGGGTTGT	0.587																																																	3	Substitution - Nonsense(3)	cervix(3)											147	154	152					12																	56995491		2030	4189	6219	SO:0001587	stop_gained	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3916G>T	12.37:g.56995491C>A	ENSP00000446880:p.Glu1306*		B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1306*	ENST00000551812.1	37	c.3916	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.297642	0.99128	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	.	.	.	5.33	5.33	0.75918	.	0.169429	0.45606	D	0.000342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	16.3139	0.82906	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1274;1306;242;1304	.	ENSP00000179765:E1274X	E	-	1	0	BAZ2A	55281758	0.993000	0.37304	0.960000	0.40013	0.444000	0.32077	3.333000	0.52090	2.668000	0.90789	0.655000	0.94253	GAG	BAZ2A	-	NULL		0.587	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	C	NM_013449		56995491	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	56995491	C	A	56995491	4	1	58	1	0	0	0	0	0	1	0	0	1332	864	30	3	1841	3	BAZ2A	12	56995491	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	349	56995491	76856404	847	8597										
NACA	4666	genome.wustl.edu	37	chr12	57107411	57107411	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagaggatattcttagatttCcggatagtgactctagtaac	9	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:57107411C>T	ENST00000454682.1	-	6	6161	c.5880G>A	c.(5878-5880)cgG>cgA	p.R1960R	NACA_ENST00000546392.1_Silent_p.R97R|NACA_ENST00000552540.1_Silent_p.R97R|NACA_ENST00000393891.4_Silent_p.R97R|NACA_ENST00000548563.1_Silent_p.R18R|NACA_ENST00000356769.3_Silent_p.R97R|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000550952.1_Silent_p.R807R	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1960	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R97R(1)|p.R807R(1)|p.R1960R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTAGATTTCCGGATAGTGA	0.408			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	3	Substitution - coding silent(3)	cervix(3)											154	158	156					12																	57107411		2203	4300	6503	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5880G>A	12.37:g.57107411C>T				Missense_Mutation	SNP	NULL	p.G49E	ENST00000454682.1	37	c.146		12																																																																																			NACA	-	NULL		0.408	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		C	NM_005594		57107411	-1	no_errors	ENST00000547914	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57107411	C	T	57107411	2	4	58	1	0	0	0	0	0	0	0	1	10156	842	30	1		1	NACA	12	57107411	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	111920	57107411	76744484	848	8598										
ZBTB39	9880	genome.wustl.edu	37	chr12	57397132	57397132	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgcacagccatgtgcttctCtagaagatgccagtccacaa	9	12	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:57397132C>G	ENST00000300101.2	-	2	1655	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	524					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.E524Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGTGCTTCTCTAGAAGATGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											49	41	44					12																	57397132		2203	4300	6503	SO:0001583	missense	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1570G>C	12.37:g.57397132C>G	ENSP00000300101:p.Glu524Gln		A7MD38|Q9UD98	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E524Q	ENST00000300101.2	37	c.1570	CCDS31839.1	12	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287875	0.59976	.	.	ENSG00000166860	ENST00000300101	T	0.52057	0.68	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053328	0.64402	D	0.000001	T	0.45337	0.1337	N	0.10707	0.03	0.42803	D	0.993934	D	0.63880	0.993	D	0.62955	0.909	T	0.38714	-0.9648	10	0.14252	T	0.57	-21.8562	17.3221	0.87238	0.0:1.0:0.0:0.0	.	524	O15060	ZBT39_HUMAN	Q	524	ENSP00000300101:E524Q	ENSP00000300101:E524Q	E	-	1	0	ZBTB39	55683399	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	4.692000	0.61746	2.694000	0.91930	0.650000	0.86243	GAG	ZBTB39	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	HGNC	protein_coding	OTTHUMT00000411214.1	C	NM_014830		57397132	-1	no_errors	ENST00000300101	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57397132	C	G	57397132	3	3	58	1	0	0	0	0	1	0	0	0	17570	922	32	1	572	1	ZBTB39	12	57397132	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	289721	57397132	76454763	849	8599										
OS9	10956	genome.wustl.edu	37	chr12	58112097	58112097	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgaacggcagttactgggaGaatttgagaaggaactggaa	14	4	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:58112097G>A	ENST00000315970.7	+	11	1344	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	OS9_ENST00000439210.2_Missense_Mutation_p.E376K|OS9_ENST00000552285.1_Missense_Mutation_p.E435K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.E435K|OS9_ENST00000435406.2_Missense_Mutation_p.E383K|OS9_ENST00000257966.8_Missense_Mutation_p.E436K|OS9_ENST00000413095.2_Missense_Mutation_p.E229K|OS9_ENST00000551035.1_Missense_Mutation_p.E403K|OS9_ENST00000389146.6_Missense_Mutation_p.E435K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	435					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.E435K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTTACTGGGAGAATTTGAGAA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											218	190	199					12																	58112097		2203	4300	6503	SO:0001583	missense	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1303G>A	12.37:g.58112097G>A	ENSP00000318165:p.Glu435Lys		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E435K	ENST00000315970.7	37	c.1303	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771943	0.90108	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.37915	1.65;1.76;1.84;1.86;1.17;1.57;1.66;1.56;1.86	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.32530	0.975	0.53005	D	0.999962	D;B;D;D;D;D;D;P	0.64830	0.982;0.037;0.994;0.991;0.982;0.985;0.97;0.816	D;B;D;D;D;D;P;B	0.78314	0.952;0.024;0.991;0.965;0.952;0.923;0.692;0.376	T	0.30707	-0.9969	10	0.36615	T	0.2	.	10.1759	0.42937	0.1584:0.0:0.8416:0.0	.	376;403;229;436;435;435;435;435	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	K	435;435;376;435;229;403;436;383;435	ENSP00000450010:E435K;ENSP00000318165:E435K;ENSP00000407360:E376K;ENSP00000373798:E435K;ENSP00000413112:E229K;ENSP00000447866:E403K;ENSP00000257966:E436K;ENSP00000389632:E383K;ENSP00000373794:E435K	ENSP00000257966:E436K	E	+	1	0	OS9	56398364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.808000	0.55598	1.571000	0.49722	0.655000	0.94253	GAA	OS9	-	NULL		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	G	NM_006812		58112097	1	no_errors	ENST00000315970	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58112097	G	A	58112097	3	1	58	1	0	0	0	0	1	0	0	0	11296	943	33	1	1345	1	OS9	12	58112097	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	714965	58112097	75739798	850	8600										
AGAP2	116986	genome.wustl.edu	37	chr12	58121321	58121321	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcggtggatgccagaacactCgatgcagatgagggcgccca	15	11	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:58121321C>G	ENST00000547588.1	-	17	2901	c.2902G>C	c.(2902-2904)Gag>Cag	p.E968Q	AGAP2_ENST00000257897.3_Missense_Mutation_p.E612Q|AGAP2-AS1_ENST00000542466.2_Silent_p.L182L|RP11-571M6.8_ENST00000548410.2_RNA	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	968	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.E612Q(1)|p.E968Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCAGAACACTCGATGCAGATG	0.677																																																	2	Substitution - Missense(2)	cervix(2)											76	71	72					12																	58121321		2203	4300	6503	SO:0001583	missense	116986			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2902G>C	12.37:g.58121321C>G	ENSP00000449241:p.Glu968Gln		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E968Q	ENST00000547588.1	37	c.2902	CCDS44932.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699548|4.699548	0.88830|0.88830	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.46451|.	0.87;0.87|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72534|0.72534	0.3472|0.3472	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.986;0.989|.	D;P;D|.	0.97110|.	1.0;0.803;0.915|.	T|T	0.71321|0.71321	-0.4628|-0.4628	10|5	0.62326|.	D|.	0.03|.	.|.	17.4429|17.4429	0.87570|0.87570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	612;968;968|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	Q|P	612;968|811	ENSP00000257897:E612Q;ENSP00000449241:E968Q|.	ENSP00000257897:E612Q|.	E|R	-|-	1|2	0|0	AGAP2|AGAP2	56407588|56407588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.796000|7.796000	0.85898|0.85898	2.480000|2.480000	0.83734|0.83734	0.655000|0.655000	0.94253|0.94253	GAG|CGA	AGAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.677	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408367.1	C	NM_014770		58121321	-1	no_errors	ENST00000547588	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58121321	C	G	58121321	3	3	58	1	0	0	0	0	1	0	0	0	368	893	31	1	688	1	AGAP2	12	58121321	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9224	58121321	75730574	851	8601										
C12orf61	283416	genome.wustl.edu	37	chr12	62996860	62996860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcggagccggcggcagcctCtgcgggatgcccgccggcga	19	15	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:62996860C>T	ENST00000408887.2	-	1	354	c.259G>A	c.(259-261)Gag>Aag	p.E87K	MIRLET7I_ENST00000362309.1_RNA|RP11-631N16.2_ENST00000550290.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN		87								p.E87K(1)		cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		GCGGCAGCCTCTGCGGGATGC	0.736																																																	1	Substitution - Missense(1)	cervix(1)											7	9	8					12																	62996860		2163	4225	6388	SO:0001583	missense	283416																														ENST00000408887.2:c.259G>A	12.37:g.62996860C>T	ENSP00000386169:p.Glu87Lys		B2RMN9|Q3ZCV4	Missense_Mutation	SNP	NULL	p.E87K	ENST00000408887.2	37	c.259	CCDS8964.1	12	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994183	0.35226	.	.	ENSG00000221949	ENST00000408887	.	.	.	2.22	-3.76	0.04359	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25537	-1.0129	7	.	.	.	.	3.654	0.08214	0.0:0.37:0.1957:0.4343	.	87	Q8N7H1	CL061_HUMAN	K	87	.	.	E	-	1	0	C12orf61	61283127	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.057000	0.14279	-0.740000	0.04803	-0.424000	0.05967	GAG	C12orf61	-	NULL		0.736	C12orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf61	HGNC	protein_coding	OTTHUMT00000406740.2	C			62996860	-1	no_errors	ENST00000408887	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62996860	C	T	62996860	3	4	58	1	0	0	0	0	1	0	0	0	1708	922	32	1	140	1	C12orf61	12	62996860	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4875539	62996860	70855035	852	8602										
RASSF3	283349	genome.wustl.edu	37	chr12	65082182	65082182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaaaaagtttctcgtgactGagagccctgccaagtttgca	9	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:65082182G>A	ENST00000542104.1	+	3	526	c.406G>A	c.(406-408)Gag>Aag	p.E136K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E136K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	136	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E136K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TCTCGTGACTGAGAGCCCTGC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											106	102	104					12																	65082182		2203	4300	6503	SO:0001583	missense	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.406G>A	12.37:g.65082182G>A	ENSP00000443021:p.Glu136Lys		Q86WH1	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E136K	ENST00000542104.1	37	c.406	CCDS8969.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560130	0.86335	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.19105	2.17;2.17	5.24	5.24	0.73138	Ras-association (3);	0.102584	0.64402	D	0.000005	T	0.17195	0.0413	N	0.14661	0.345	0.52099	D	0.999948	P	0.44521	0.837	B	0.43331	0.416	T	0.04565	-1.0942	9	.	.	.	-18.5298	19.2259	0.93817	0.0:0.0:1.0:0.0	.	136	Q86WH2	RASF3_HUMAN	K	136;136;66	ENSP00000443021:E136K;ENSP00000336616:E136K	.	E	+	1	0	RASSF3	63368449	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	8.883000	0.92426	2.614000	0.88457	0.655000	0.94253	GAG	RASSF3	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.478	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF3	HGNC	protein_coding	OTTHUMT00000401161.1	G			65082182	1	no_errors	ENST00000336061	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65082182	G	A	65082182	3	1	58	1	0	0	0	0	1	0	0	0	13117	1291	45	1	416	1	RASSF3	12	65082182	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2085322	65082182	68769713	853	8603										
WIF1	11197	genome.wustl.edu	37	chr12	65456282	65456282	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatttcacactgctctccctCtagtcctggagggcaaatac	8	13	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:65456282C>G	ENST00000286574.4	-	7	1179	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	269	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.E269Q(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGCTCTCCCTCTAGTCCTGGA	0.448			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	2	Substitution - Missense(2)	cervix(2)											104	91	96					12																	65456282		2203	4300	6503	SO:0001583	missense	11197			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.805G>C	12.37:g.65456282C>G	ENSP00000286574:p.Glu269Gln		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.E269Q	ENST00000286574.4	37	c.805	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630108	0.67015	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	T;T	0.44083	3.89;0.93	5.28	4.37	0.52481	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.054186	0.64402	N	0.000001	T	0.33118	0.0852	L	0.28400	0.85	0.58432	D	0.999994	B	0.16166	0.016	B	0.22152	0.038	T	0.07908	-1.0748	9	.	.	.	.	16.4853	0.84183	0.0:0.8684:0.1316:0.0	.	269	Q9Y5W5	WIF1_HUMAN	Q	269;32	ENSP00000286574:E269Q;ENSP00000439024:E32Q	.	E	-	1	0	WIF1	63742549	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	3.737000	0.55060	1.515000	0.48885	0.650000	0.86243	GAG	WIF1	-	smart_EG-like_dom		0.448	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	HGNC	protein_coding	OTTHUMT00000401258.2	C			65456282	-1	no_errors	ENST00000286574	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65456282	C	G	65456282	3	3	58	1	0	0	0	0	1	0	0	0	17397	922	32	1	350	1	WIF1	12	65456282	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	374100	65456282	68395613	854	8604										
GRIP1	23426	genome.wustl.edu	37	chr12	66773175	66773175	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgttttggactcctccagtCataggtgttgaaattgtatc	9	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:66773175C>T	ENST00000398016.3	-	19	2418	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D836N|GRIP1_ENST00000286445.7_Missense_Mutation_p.D836N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.D784N(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCTCCAGTCATAGGTGTTG	0.463																																																	1	Substitution - Missense(1)	cervix(1)											192	186	188					12																	66773175		1910	4113	6023	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2350G>A	12.37:g.66773175C>T	ENSP00000381098:p.Asp784Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D836N	ENST00000398016.3	37	c.2506	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973016|3.973016	0.74246|0.74246	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.78126|.	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.314863|.	0.37178|.	N|.	0.002211|.	T|T	0.57095|0.57095	0.2030|0.2030	L|L	0.29908|0.29908	0.895|0.895	0.43467|0.43467	D|D	0.995678|0.995678	B;B;B;B|.	0.25772|.	0.033;0.134;0.026;0.099|.	B;B;B;B|.	0.25884|.	0.054;0.064;0.015;0.064|.	T|T	0.52888|0.52888	-0.8515|-0.8515	9|5	.|.	.|.	.|.	-10.0137|-10.0137	18.0265|18.0265	0.89270|0.89270	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	784;836;784;836|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	N|I	784;836;836;784;728;676|650	ENSP00000381098:D784N;ENSP00000352780:D836N;ENSP00000286445:D836N;ENSP00000446047:D784N;ENSP00000446024:D728N;ENSP00000446011:D676N|.	.|.	D|M	-|-	1|3	0|0	GRIP1|GRIP1	65059442|65059442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.195000|7.195000	0.77798|0.77798	2.477000|2.477000	0.83638|0.83638	0.561000|0.561000	0.74099|0.74099	GAC|ATG	GRIP1	-	NULL		0.463	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66773175	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66773175	C	T	66773175	3	4	58	1	0	0	0	0	1	0	0	0	6807	826	29	1	904	1	GRIP1	12	66773175	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1316893	66773175	67078720	855	8605										
SLC35E3	55508	genome.wustl.edu	37	chr12	69145963	69145963	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atttggtccctggtcagtttCtgctttggtaagttctaatt	9	7	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:69145963C>T	ENST00000398004.2	+	3	937	c.665C>T	c.(664-666)tCt>tTt	p.S222F	SLC35E3_ENST00000538043.1_3'UTR	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	222						integral component of membrane (GO:0016021)		p.S222F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGTCAGTTTCTGCTTTGGTA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											206	189	194					12																	69145963		1894	4131	6025	SO:0001583	missense	55508			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.665C>T	12.37:g.69145963C>T	ENSP00000381089:p.Ser222Phe		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	pfam_DUF250,pfam_DMT	p.S222F	ENST00000398004.2	37	c.665	CCDS41808.1	12	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096009	0.56075	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.62941	-0.01;2.27	5.59	5.59	0.84812	Domain of unknown function DUF250 (1);	0.277324	0.42294	D	0.000737	T	0.71896	0.3394	M	0.73372	2.23	0.51233	D	0.999912	P	0.36222	0.544	P	0.45753	0.492	T	0.68345	-0.5433	9	.	.	.	-13.0568	19.9688	0.97277	0.0:1.0:0.0:0.0	.	222	Q7Z769	S35E3_HUMAN	F	222;32	ENSP00000381089:S222F;ENSP00000403769:S32F	.	S	+	2	0	SLC35E3	67432230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.567000	0.60850	2.809000	0.96659	0.555000	0.69702	TCT	SLC35E3	-	pfam_DUF250,pfam_DMT		0.393	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	C	NM_018656		69145963	1	no_errors	ENST00000398004	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69145963	C	T	69145963	3	4	58	1	0	0	0	0	1	0	0	0	14616	913	32	1	675	1	SLC35E3	12	69145963	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2372788	69145963	64705932	856	8606										
CCT2	10576	genome.wustl.edu	37	chr12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcaattaatttataattatCctgaacagctctttggtgct	7	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:69987309C>T	ENST00000299300.6	+	10	1086	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_ENST00000543146.2_Missense_Mutation_p.P253S|CCT2_ENST00000544368.2_Missense_Mutation_p.P300S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	300					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.P300S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											100	95	97					12																	69987309		2203	4300	6503	SO:0001583	missense	10576			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.898C>T	12.37:g.69987309C>T	ENSP00000299300:p.Pro300Ser		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.P300S	ENST00000299300.6	37	c.898	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.367833	0.95900	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.76968	-1.06;-1.06;-1.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84616	0.0681	9	.	.	.	-5.1868	20.2985	0.98592	0.0:1.0:0.0:0.0	.	300;300	F5GWF6;P78371	.;TCPB_HUMAN	S	300;300;253	ENSP00000299300:P300S;ENSP00000441847:P300S;ENSP00000445471:P253S	.	P	+	1	0	CCT2	68273576	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	CCT	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta		0.353	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	C	NM_006431		69987309	1	no_errors	ENST00000299300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69987309	C	T	69987309	3	4	58	1	0	0	0	0	1	0	0	0	2958	855	30	1	936	1	CCT2	12	69987309	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	841346	69987309	63864586	857	8607										
TSPAN8	7103	genome.wustl.edu	37	chr12	71537942	71537942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catacttactgcttgagagtCattgcttactcgtacccata	6	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:71537942C>T	ENST00000393330.2	-	6	664	c.112G>A	c.(112-114)Gac>Aac	p.D38N	TSPAN8_ENST00000546561.1_Missense_Mutation_p.D38N|TSPAN8_ENST00000552786.1_5'UTR|TSPAN8_ENST00000247829.3_Missense_Mutation_p.D38N			P19075	TSN8_HUMAN	tetraspanin 8	38					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D38N(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCTTGAGAGTCATTGCTTACT	0.303																																																	1	Substitution - Missense(1)	cervix(1)											163	148	153					12																	71537942		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.112G>A	12.37:g.71537942C>T	ENSP00000377003:p.Asp38Asn		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.D38N	ENST00000393330.2	37	c.112	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	3.166	-0.171094	0.06421	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.80033	-1.33;-1.33;-1.33	5.37	-1.51	0.08664	.	0.822673	0.11348	N	0.573343	T	0.60170	0.2248	N	0.20328	0.56	0.09310	N	0.999999	B	0.31209	0.313	B	0.29077	0.098	T	0.46803	-0.9165	10	0.22109	T	0.4	.	4.924	0.13883	0.1611:0.2753:0.0:0.5635	.	38	P19075	TSN8_HUMAN	N	38	ENSP00000377003:D38N;ENSP00000247829:D38N;ENSP00000447160:D38N	ENSP00000247829:D38N	D	-	1	0	TSPAN8	69824209	0.001000	0.12720	0.008000	0.14137	0.002000	0.02628	-0.562000	0.05950	-0.128000	0.11641	0.655000	0.94253	GAC	TSPAN8	-	pfam_Tetraspanin/Peripherin		0.303	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	C	NM_004616		71537942	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.015	T	T	71537942	C	T	71537942	3	4	58	1	0	0	0	0	1	0	0	0	16684	826	29	1	629	1	TSPAN8	12	71537942	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1550633	71537942	62313953	858	8608										
ZFC3H1	196441	genome.wustl.edu	37	chr12	72056802	72056802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttaaggatacagctcttccGaggtggagagggctctcgcc	14	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:72056802G>C	ENST00000378743.3	-	1	947	c.589C>G	c.(589-591)Cgg>Ggg	p.R197G	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R197G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R197G|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	197					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R197G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCTCTTCCGAGGTGGAGAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											138	153	148					12																	72056802		2004	4165	6169	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.589C>G	12.37:g.72056802G>C	ENSP00000368017:p.Arg197Gly		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.R197G	ENST00000378743.3	37	c.589	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062868	0.55432	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35605	1.3	4.29	4.29	0.51040	.	0.488636	0.18359	N	0.143621	T	0.43634	0.1256	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.85130	0.997;0.995;0.972	T	0.49995	-0.8879	10	0.59425	D	0.04	.	15.4779	0.75501	0.0:0.0:1.0:0.0	.	197;197;197	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	G	197	ENSP00000368017:R197G	ENSP00000368017:R197G	R	-	1	2	ZFC3H1	70343069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.419000	0.59835	2.384000	0.81235	0.650000	0.86243	CGG	ZFC3H1	-	NULL		0.582	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72056802	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72056802	G	C	72056802	3	2	58	1	0	0	0	0	1	0	0	0	17663	1057	37	1	5520	1	ZFC3H1	12	72056802	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	518860	72056802	61795093	859	8609										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80192284	80192284	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttaactatacctgtgttgatCttctagattgtcttgcttgt	7	7	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:80192284C>G	ENST00000450142.2	-	15	2347	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R694T|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R694T|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R638T|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R607T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	694	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.R694T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTGTGTTGATCTTCTAGATTG	0.308																																																	1	Substitution - Missense(1)	cervix(1)											129	115	119					12																	80192284		1822	4067	5889	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2081G>C	12.37:g.80192284C>G	ENSP00000389168:p.Arg694Thr		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R694T	ENST00000450142.2	37	c.2081	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412877|3.412877	0.62511|0.62511	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	.|D;D;D;D;D;D;T	.|0.88741	.|-2.4;-2.4;-2.29;-2.42;-2.24;-1.96;-1.24	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94827|0.94827	0.8329|0.8329	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.61080	.|0.989;0.989;0.989;0.981	.|D;D;D;D	.|0.75020	.|0.985;0.985;0.985;0.966	D|D	0.94200|0.94200	0.7449|0.7449	5|10	.|0.44086	.|T	.|0.13	.|.	19.2672|19.2672	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|635;694;638;694	.|F8W8Q6;O14974-2;O14974-3;O14974	.|.;.;.;MYPT1_HUMAN	H|T	286|694;694;694;638;635;694;694;607;638;635;274	.|ENSP00000261207:R694T;ENSP00000389168:R694T;ENSP00000416769:R694T;ENSP00000449514:R607T;ENSP00000446855:R638T;ENSP00000446816:R635T;ENSP00000450061:R274T	.|ENSP00000261207:R694T	D|R	-|-	1|2	0|0	PPP1R12A|PPP1R12A	78716415|78716415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.057000|0.057000	0.15508|0.15508	7.234000|7.234000	0.78134|0.78134	2.552000|2.552000	0.86080|0.86080	0.557000|0.557000	0.71058|0.71058	GAT|AGA	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.308	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80192284	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80192284	C	G	80192284	3	3	58	1	0	0	0	0	1	0	0	0	12381	913	32	1	1055	1	PPP1R12A	12	80192284	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	8135482	80192284	53659611	860	8610										
SOCS2	8835	genome.wustl.edu	37	chr12	93968612	93968612	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agactacctactaacaatatCtgttaaaacatcagctggac	5	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:93968612C>G	ENST00000340600.2	+	3	852	c.254C>G	c.(253-255)tCt>tGt	p.S85C	SOCS2_ENST00000536696.2_Missense_Mutation_p.S85C|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85C|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85C|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85C|SOCS2_ENST00000548537.1_3'UTR	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	85	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.S85C(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTAACAATATCTGTTAAAACA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											80	77	78					12																	93968612		2203	4300	6503	SO:0001583	missense	8835			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.254C>G	12.37:g.93968612C>G	ENSP00000339428:p.Ser85Cys		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.S85C	ENST00000340600.2	37	c.254	CCDS9047.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330817	0.81690	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.84	5.84	0.93424	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	M	0.89601	3.045	0.80722	D	1	D	0.57571	0.98	P	0.57548	0.823	D	0.97201	0.9864	10	0.87932	D	0	-0.7853	20.1346	0.98019	0.0:1.0:0.0:0.0	.	85	O14508	SOCS2_HUMAN	C	85;85;85;33;85;85;85;85	ENSP00000339428:S85C;ENSP00000448815:S85C;ENSP00000442898:S85C;ENSP00000447902:S85C;ENSP00000447161:S85C;ENSP00000448611:S85C;ENSP00000449227:S85C	ENSP00000339428:S85C	S	+	2	0	SOCS2	92492743	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.554000	0.82212	2.765000	0.95021	0.655000	0.94253	TCT	SOCS2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.363	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	HGNC	protein_coding	OTTHUMT00000407731.2	C			93968612	1	no_errors	ENST00000340600	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93968612	C	G	93968612	3	3	58	1	0	0	0	0	1	0	0	0	14944	913	32	1	260	1	SOCS2	12	93968612	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	13776328	93968612	39883283	861	8611										
PLXNC1	10154	genome.wustl.edu	37	chr12	94543449	94543449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcgcgggcagcctgcacttCgtggacgcctttctctggaa	14	13	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:94543449C>A	ENST00000258526.4	+	1	951	c.702C>A	c.(700-702)ttC>ttA	p.F234L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	234	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F234L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTGCACTTCGTGGACGCCT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											31	36	35					12																	94543449		2168	4277	6445	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.702C>A	12.37:g.94543449C>A	ENSP00000258526:p.Phe234Leu		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F234L	ENST00000258526.4	37	c.702	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561731	0.65538	.	.	ENSG00000136040	ENST00000258526	T	0.08896	3.04	5.04	1.73	0.24493	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.327287	0.29473	N	0.012052	T	0.21267	0.0512	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00666	-1.1619	10	0.72032	D	0.01	.	6.6422	0.22914	0.1235:0.5789:0.0:0.2975	.	234	O60486	PLXC1_HUMAN	L	234	ENSP00000258526:F234L	ENSP00000258526:F234L	F	+	3	2	PLXNC1	93067580	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.400000	0.20932	0.545000	0.28902	0.561000	0.74099	TTC	PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.682	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94543449	1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	0.997	A	A	94543449	C	A	94543449	3	1	58	1	0	0	0	0	1	0	0	0	12150	883	31	3	704	3	PLXNC1	12	94543449	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	574837	94543449	39308446	862	8612										
FGD6	55785	genome.wustl.edu	37	chr12	95535261	95535261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgatttagaatccggtcctCaatcactggtttcccaagtt	7	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:95535261C>G	ENST00000343958.4	-	6	2963	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q	FGD6_ENST00000549499.1_Missense_Mutation_p.E914Q|FGD6_ENST00000546711.1_Missense_Mutation_p.E914Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	914	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E914Q(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCCGGTCCTCAATCACTGGT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											124	113	117					12																	95535261		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2740G>C	12.37:g.95535261C>G	ENSP00000344446:p.Glu914Gln		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E914Q	ENST00000343958.4	37	c.2740	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906827	0.92107	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.63417	-0.04;-0.04;-0.04	5.66	5.66	0.87406	Dbl homology (DH) domain (5);	0.000000	0.48286	D	0.000199	T	0.77184	0.4093	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75485	-0.3301	10	0.45353	T	0.12	-28.0573	19.7628	0.96329	0.0:1.0:0.0:0.0	.	914	Q6ZV73	FGD6_HUMAN	Q	914	ENSP00000344446:E914Q;ENSP00000450342:E914Q;ENSP00000449005:E914Q	ENSP00000344446:E914Q	E	-	1	0	FGD6	94059392	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.430000	0.80321	2.653000	0.90120	0.563000	0.77884	GAG	FGD6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	C	NM_018351		95535261	-1	no_errors	ENST00000343958	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95535261	C	G	95535261	3	3	58	1	0	0	0	0	1	0	0	0	5855	835	29	1	1616	1	FGD6	12	95535261	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	991812	95535261	38316634	863	8613										
AMDHD1	144193	genome.wustl.edu	37	chr12	96354389	96354389	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggggatgaactccacccgatGaaggctgctgaggtgtggtt	16	8	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:96354389G>A	ENST00000266736.2	+	5	907	c.801G>A	c.(799-801)atG>atA	p.M267I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	267					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.M267I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCACCCGATGAAGGCTGCTG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											86	85	85					12																	96354389		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.801G>A	12.37:g.96354389G>A	ENSP00000266736:p.Met267Ile		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.M267I	ENST00000266736.2	37	c.801	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	6.751	0.507430	0.12883	.	.	ENSG00000139344	ENST00000266736	T	0.38560	1.13	5.55	4.66	0.58398	Metal-dependent hydrolase, composite domain (1);	0.065910	0.85682	D	0.000000	T	0.27454	0.0674	N	0.11789	0.175	0.58432	D	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.03795	-1.1003	10	0.35671	T	0.21	-3.735	14.9157	0.70795	0.0692:0.0:0.9308:0.0	.	267	Q96NU7	HUTI_HUMAN	I	267	ENSP00000266736:M267I	ENSP00000266736:M267I	M	+	3	0	AMDHD1	94878520	1.000000	0.71417	0.995000	0.50966	0.017000	0.09413	7.115000	0.77110	1.472000	0.48140	0.655000	0.94253	ATG	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI		0.418	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	G	NM_152435		96354389	1	no_errors	ENST00000266736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96354389	G	A	96354389	3	1	58	1	0	0	0	0	1	0	0	0	567	1290	45	1	819	1	AMDHD1	12	96354389	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	819128	96354389	37497506	864	8614										
C12orf63	144535	genome.wustl.edu	37	chr12	97150283	97150283	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagagaaatctccaagttttCaacttgagagtttatatgaa	7	5	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:97150283C>T	ENST00000524981.4	+	57	7911	c.7888C>T	c.(7888-7890)Caa>Taa	p.Q2630*				Q96N23	CL055_HUMAN		0								p.Q1055*(1)									TCCAAGTTTTCAACTTGAGAG	0.328																																																	1	Substitution - Nonsense(1)	cervix(1)											69	77	74					12																	97150283		2201	4298	6499	SO:0001587	stop_gained	144535																														ENST00000524981.4:c.7888C>T	12.37:g.97150283C>T	ENSP00000431759:p.Gln2630*			Nonsense_Mutation	SNP	NULL	p.Q1055*	ENST00000524981.4	37	c.3163		12	.	.	.	.	.	.	.	.	.	.	C	44	11.190099	0.99528	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.55	1.23	0.21249	.	0.971325	0.08454	N	0.943403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.9046	2.8802	0.05645	0.3891:0.3298:0.1954:0.0857	.	.	.	.	X	2630;1055	.	ENSP00000345466:Q1055X	Q	+	1	0	C12orf63	95674414	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.032000	0.13732	0.727000	0.32360	0.655000	0.94253	CAA	C12orf55	-	NULL		0.328	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97150283	1	no_errors	ENST00000342887	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	97150283	C	T	97150283	4	4	58	1	0	0	0	0	0	1	0	0	1710	827	29	1	3253	1	C12orf63	12	97150283	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	795894	97150283	36701612	865	8615										
SPIC	121599	genome.wustl.edu	37	chr12	101880256	101880256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaacaaagaaaaacttgccGagctttgggggaaaagaaaa	10	5	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:101880256G>A	ENST00000551346.1	+	6	613	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SPIC_ENST00000299272.5_Missense_Mutation_p.E152K			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	152					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E152K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAACTTGCCGAGCTTTGGGG	0.413																																																	1	Substitution - Missense(1)	cervix(1)											54	56	55					12																	101880256		2203	4300	6503	SO:0001583	missense	121599			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.454G>A	12.37:g.101880256G>A	ENSP00000448580:p.Glu152Lys			Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E152K	ENST00000551346.1	37	c.454	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448002	0.63178	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.18338	2.22;2.22	4.69	3.8	0.43715	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.095949	0.64402	D	0.000001	T	0.14184	0.0343	N	0.25485	0.75	0.53688	D	0.999973	P	0.44521	0.837	B	0.42361	0.385	T	0.04307	-1.0961	10	0.33141	T	0.24	-0.0854	13.892	0.63744	0.0:0.1971:0.8029:0.0	.	152	Q8N5J4	SPIC_HUMAN	K	152	ENSP00000448580:E152K;ENSP00000299272:E152K	ENSP00000299272:E152K	E	+	1	0	SPIC	100404387	1.000000	0.71417	0.984000	0.44739	0.952000	0.60782	4.875000	0.63072	1.102000	0.41551	0.650000	0.86243	GAG	SPIC	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.413	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	HGNC	protein_coding	OTTHUMT00000408260.1	G	NM_152323		101880256	1	no_errors	ENST00000299272	ensembl	human	known	70_37	missense	SNP	0.998	A	A	101880256	G	A	101880256	3	1	58	1	0	0	0	0	1	0	0	0	15081	1059	37	1	466	1	SPIC	12	101880256	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4729973	101880256	31971639	866	8616										
GNPTAB	79158	genome.wustl.edu	37	chr12	102158356	102158356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctgcaatctttcagacactCctaagctgtttggcaagatg	8	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:102158356C>A	ENST00000299314.7	-	13	2601	c.2339G>T	c.(2338-2340)gGa>gTa	p.G780V	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	780	DMAP-interaction.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.G780V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCAGACACTCCTAAGCTGTT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											99	93	95					12																	102158356		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2339G>T	12.37:g.102158356C>A	ENSP00000299314:p.Gly780Val		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.G780V	ENST00000299314.7	37	c.2339	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653586	0.29425	.	.	ENSG00000111670	ENST00000299314	T	0.42513	0.97	4.96	-1.44	0.08856	DMAP1-binding (1);	1.039340	0.07491	N	0.905592	T	0.28134	0.0694	L	0.29908	0.895	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.23013	-1.0200	10	0.34782	T	0.22	-0.3192	6.7394	0.23426	0.0:0.1491:0.158:0.6929	.	780	Q3T906	GNPTA_HUMAN	V	780	ENSP00000299314:G780V	ENSP00000299314:G780V	G	-	2	0	GNPTAB	100682487	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-0.180000	0.09754	-0.527000	0.06374	-0.136000	0.14681	GGA	GNPTAB	-	pfam_DMAP1-bd		0.413	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102158356	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.000	A	A	102158356	C	A	102158356	3	1	58	1	0	0	0	0	1	0	0	0	6564	855	30	3	1467	3	GNPTAB	12	102158356	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	278100	102158356	31693539	867	8617										
STAB2	55576	genome.wustl.edu	37	chr12	104131462	104131462	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaattgtgcagcgggagctCttgtttgacctgggtgtggc	16	7	1	2	rs189453513	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:104131462C>T	ENST00000388887.2	+	53	5805	c.5601C>T	c.(5599-5601)ctC>ctT	p.L1867L		NM_017564.9	NP_060034.9			stabilin 2									p.L1867L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCGGGAGCTCTTGTTTGACC	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											93	92	93					12																	104131462		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5601C>T	12.37:g.104131462C>T				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L1867	ENST00000388887.2	37	c.5601	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	C			104131462	1	no_errors	ENST00000388887	ensembl	human	known	70_37	silent	SNP	0.056	T	T	104131462	C	T	104131462	2	4	58	1	0	0	0	0	0	0	0	1	15268	900	32	1		1	STAB2	12	104131462	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1973106	104131462	29720433	868	8618										
APPL2	55198	genome.wustl.edu	37	chr12	105601801	105601801	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtattttgccattgagaggTcatgctctaaaaataaacag	8	6	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:105601801T>G	ENST00000258530.3	-	7	647	c.422A>C	c.(421-423)gAc>gCc	p.D141A	APPL2_ENST00000549573.1_5'Flank|APPL2_ENST00000539978.2_Missense_Mutation_p.D98A|APPL2_ENST00000551662.1_Missense_Mutation_p.D147A	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.D141A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATTGAGAGGTCATGCTCTAA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											134	137	136					12																	105601801		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.422A>C	12.37:g.105601801T>G	ENSP00000258530:p.Asp141Ala		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.D147A	ENST00000258530.3	37	c.440	CCDS9101.1	12	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901938	0.72754	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553097	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.76	5.76	0.90799	.	0.045642	0.85682	D	0.000000	T	0.11965	0.0291	L	0.42245	1.32	0.80722	D	1	D;P;P	0.56035	0.974;0.91;0.91	P;B;B	0.45506	0.483;0.224;0.208	T	0.02104	-1.1213	10	0.44086	T	0.13	-34.8781	16.0784	0.80982	0.0:0.0:0.0:1.0	.	147;98;141	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	A	141;98;147;108	ENSP00000258530:D141A;ENSP00000444472:D98A;ENSP00000446917:D147A;ENSP00000449767:D108A	ENSP00000258530:D141A	D	-	2	0	APPL2	104125931	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.362000	0.79507	2.193000	0.70182	0.528000	0.53228	GAC	APPL2	-	NULL		0.443	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	T	NM_018171		105601801	-1	no_errors	ENST00000551662	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105601801	T	G	105601801	3	3	58	1	0	0	0	0	1	0	0	0	818	1667	58	5	1632	5	APPL2	12	105601801	Missense_Mutation	SNP	T	TCGA-DR-A0ZM-01A-12D-A10S-08	1470339	105601801	28250094	869	8619										
NUAK1	9891	genome.wustl.edu	37	chr12	106460917	106460917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggacaccaggctctgacaggGattccagtgtgggcatttca	13	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:106460917G>A	ENST00000261402.2	-	7	3028	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	550					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.S550F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTCTGACAGGGATTCCAGTGT	0.607																																																	2	Substitution - Missense(2)	cervix(2)											52	59	56					12																	106460917		2203	4300	6503	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1649C>T	12.37:g.106460917G>A	ENSP00000261402:p.Ser550Phe		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S550F	ENST00000261402.2	37	c.1649	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936093	0.73442	.	.	ENSG00000074590	ENST00000261402	T	0.73789	-0.78	5.53	5.53	0.82687	.	0.242039	0.29486	N	0.012005	T	0.80065	0.4555	L	0.55990	1.75	0.51767	D	0.999936	P	0.45474	0.859	P	0.50896	0.653	T	0.81475	-0.0916	10	0.72032	D	0.01	.	19.4552	0.94884	0.0:0.0:1.0:0.0	.	550	O60285	NUAK1_HUMAN	F	550	ENSP00000261402:S550F	ENSP00000261402:S550F	S	-	2	0	NUAK1	104985047	1.000000	0.71417	0.997000	0.53966	0.550000	0.35303	7.624000	0.83124	2.596000	0.87737	0.462000	0.41574	TCC	NUAK1	-	NULL		0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	G	NM_014840		106460917	-1	no_errors	ENST00000261402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106460917	G	A	106460917	3	1	58	1	0	0	0	0	1	0	0	0	10736	1174	41	1	340	1	NUAK1	12	106460917	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	859116	106460917	27390978	870	8620										
POLR3B	55703	genome.wustl.edu	37	chr12	106853091	106853091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcccacagtgactcagattCctttggaaggaagtaatgta	10	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:106853091C>T	ENST00000228347.4	+	22	2737	c.2515C>T	c.(2515-2517)Cct>Tct	p.P839S	POLR3B_ENST00000539066.1_Missense_Mutation_p.P781S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	839					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P839S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GACTCAGATTCCTTTGGAAGG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											152	129	137					12																	106853091		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2515C>T	12.37:g.106853091C>T	ENSP00000228347:p.Pro839Ser		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.P839S	ENST00000228347.4	37	c.2515	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686820	0.48097	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.70986	-0.53;-0.53	5.59	5.59	0.84812	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	N	0.10972	0.075	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.51293	-0.8724	10	0.10377	T	0.69	-17.4655	19.6005	0.95560	0.0:1.0:0.0:0.0	.	839	Q9NW08	RPC2_HUMAN	S	839;781	ENSP00000228347:P839S;ENSP00000445721:P781S	ENSP00000228347:P839S	P	+	1	0	POLR3B	105377221	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.786000	0.85741	2.636000	0.89361	0.655000	0.94253	CCT	POLR3B	-	pfam_DNA-dir_RNA_pol_su2_6		0.383	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	C	NM_018082		106853091	1	no_errors	ENST00000228347	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106853091	C	T	106853091	3	4	58	1	0	0	0	0	1	0	0	0	12253	855	30	1	2601	1	POLR3B	12	106853091	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	392174	106853091	26998804	871	8621										
CRY1	1407	genome.wustl.edu	37	chr12	107391157	107391157	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggattagaaggtactgatgcCagaagacctaaaggacaaaa	11	6	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:107391157C>G	ENST00000008527.5	-	10	2367	c.1500G>C	c.(1498-1500)ctG>ctC	p.L500L		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	500					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.L500L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GTACTGATGCCAGAAGACCTA	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											117	122	120					12																	107391157		2203	4300	6503	SO:0001819	synonymous_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1500G>C	12.37:g.107391157C>G				Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.L500	ENST00000008527.5	37	c.1500	CCDS9112.1	12																																																																																			CRY1	-	NULL		0.353	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1	C	NM_004075		107391157	-1	no_errors	ENST00000008527	ensembl	human	known	70_37	silent	SNP	1.000	G	G	107391157	C	G	107391157	2	3	58	1	0	0	0	0	0	0	0	1	3908	581	21	4		4	CRY1	12	107391157	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	538066	107391157	26460738	872	8622										
MMAB	326625	genome.wustl.edu	37	chr12	110006640	110006640	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttggtcatctttgggtctCctttctcctgtgaaggtact	9	10	4	1	rs267603297		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110006640C>G	ENST00000545712.2	-	3	618	c.225G>C	c.(223-225)agG>agC	p.R75S	MMAB_ENST00000540016.1_Intron|RNU4-32P_ENST00000363404.1_RNA|MMAB_ENST00000266839.5_5'UTR	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	75					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)	p.R75S(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTGGGTCTCCTTTCTCCTG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											132	123	126					12																	110006640		2203	4300	6503	SO:0001583	missense	326625			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.225G>C	12.37:g.110006640C>G	ENSP00000445920:p.Arg75Ser		C5HU05|Q9BSH0	Missense_Mutation	SNP	pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N	p.R75S	ENST00000545712.2	37	c.225	CCDS9131.1	12	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653968	0.67472	.	.	ENSG00000139428	ENST00000545712;ENST00000542390	D	0.96136	-3.92	4.91	1.76	0.24704	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	H	0.95645	3.7	0.80722	D	1	P	0.43287	0.802	P	0.46253	0.509	D	0.95271	0.8377	10	0.87932	D	0	-34.9715	9.3377	0.38060	0.0:0.74:0.0:0.26	.	75	Q96EY8	MMAB_HUMAN	S	75	ENSP00000445920:R75S	ENSP00000444793:R75S	R	-	3	2	MMAB	108491023	0.928000	0.31464	1.000000	0.80357	0.995000	0.86356	0.032000	0.13732	0.257000	0.21650	0.555000	0.69702	AGG	MMAB	-	pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N		0.398	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAB	HGNC	protein_coding	OTTHUMT00000403128.2	C			110006640	-1	no_errors	ENST00000545712	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110006640	C	G	110006640	3	3	58	1	0	0	0	0	1	0	0	0	9663	854	30	1	555	1	MMAB	12	110006640	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2615483	110006640	23845255	873	8623										
TRPV4	59341	genome.wustl.edu	37	chr12	110221551	110221551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttcgagttcttgttcagttCcaccacgcggggtaccaccg	11	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110221551C>T	ENST00000418703.2	-	15	2585	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	TRPV4_ENST00000544971.1_Missense_Mutation_p.E724K|TRPV4_ENST00000541794.1_Missense_Mutation_p.E784K|TRPV4_ENST00000392719.2_Missense_Mutation_p.E784K|TRPV4_ENST00000537083.1_Missense_Mutation_p.E771K|TRPV4_ENST00000536838.1_Missense_Mutation_p.E797K|TRPV4_ENST00000346520.2_Missense_Mutation_p.E771K|TRPV4_ENST00000261740.2_Missense_Mutation_p.E831K	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	831	Interaction with calmodulin.				actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.E831K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGTTCAGTTCCACCACGCGG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											79	65	70					12																	110221551		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2491G>A	12.37:g.110221551C>T	ENSP00000406191:p.Glu831Lys		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.E831K	ENST00000418703.2	37	c.2491	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.829870	0.96996	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.4;-2.63;-2.42;-2.63;-2.4;-2.68	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	M	0.62723	1.935	0.80722	D	1	D;D;D;P;P	0.76494	0.999;0.988;0.999;0.941;0.952	D;P;D;P;P	0.68483	0.958;0.76;0.958;0.595;0.496	D	0.92011	0.5618	10	0.25106	T	0.35	-2.0037	17.7042	0.88304	0.0:1.0:0.0:0.0	.	771;831;724;784;797	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	K	831;831;784;771;724;771;784;797	ENSP00000406191:E831K;ENSP00000261740:E831K;ENSP00000376480:E784K;ENSP00000319003:E771K;ENSP00000443611:E724K;ENSP00000442738:E771K;ENSP00000442167:E784K;ENSP00000444336:E797K	ENSP00000261740:E831K	E	-	1	0	TRPV4	108705934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.134000	0.77268	2.523000	0.85059	0.561000	0.74099	GAA	TRPV4	-	NULL		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	C	NM_021625		110221551	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110221551	C	T	110221551	3	4	58	1	0	0	0	0	1	0	0	0	16629	864	30	1	128	1	TRPV4	12	110221551	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	214911	110221551	23630344	874	8624										
TRPV4	59341	genome.wustl.edu	37	chr12	110222220	110222220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcccaagttctggttccagtGagaccagttcacctcatcca	8	14	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110222220G>A	ENST00000418703.2	-	14	2453	c.2359C>T	c.(2359-2361)Cac>Tac	p.H787Y	TRPV4_ENST00000544971.1_Missense_Mutation_p.H680Y|TRPV4_ENST00000541794.1_Missense_Mutation_p.H740Y|TRPV4_ENST00000392719.2_Missense_Mutation_p.H740Y|TRPV4_ENST00000537083.1_Missense_Mutation_p.H727Y|TRPV4_ENST00000536838.1_Missense_Mutation_p.H753Y|TRPV4_ENST00000346520.2_Missense_Mutation_p.H727Y|TRPV4_ENST00000261740.2_Missense_Mutation_p.H787Y	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	787					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.H787Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGGTTCCAGTGAGACCAGTTC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											143	120	128					12																	110222220		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2359C>T	12.37:g.110222220G>A	ENSP00000406191:p.His787Tyr		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.H787Y	ENST00000418703.2	37	c.2359	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600910	0.87055	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.28;-2.49;-2.28;-2.49;-2.28;-2.51	4.82	4.82	0.62117	.	0.047989	0.85682	D	0.000000	D	0.90459	0.7012	M	0.64997	1.995	0.58432	D	0.999999	P;P;P;P;P	0.50528	0.883;0.936;0.933;0.799;0.731	P;B;P;P;B	0.49799	0.622;0.342;0.622;0.574;0.382	D	0.91496	0.5215	10	0.62326	D	0.03	0.2397	16.6118	0.84885	0.0:0.0:1.0:0.0	.	727;787;680;740;753	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	Y	787;787;740;727;680;727;740;753	ENSP00000406191:H787Y;ENSP00000261740:H787Y;ENSP00000376480:H740Y;ENSP00000319003:H727Y;ENSP00000443611:H680Y;ENSP00000442738:H727Y;ENSP00000442167:H740Y;ENSP00000444336:H753Y	ENSP00000261740:H787Y	H	-	1	0	TRPV4	108706603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.763000	0.62257	2.508000	0.84585	0.555000	0.69702	CAC	TRPV4	-	prints_TRPV1-4_channel,tigrfam_TRP_channel		0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110222220	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110222220	G	A	110222220	3	1	58	1	0	0	0	0	1	0	0	0	16629	1290	45	1	264	1	TRPV4	12	110222220	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	669	110222220	23629675	875	8625										
BRAP	8315	genome.wustl.edu	37	chr12	112119640	112119640	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactgtagtttttagttcatCtttcaccagttaaaaaatag	5	7	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:112119640C>G	ENST00000327551.6	-	3	295		c.e3-1		BRAP_ENST00000539060.1_5'Flank|BRAP_ENST00000419234.4_Splice_Site			Q6UWU4	CF089_HUMAN	BRCA1 associated protein						epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTTAGTTCATCTTTCACCAGT	0.373																																					Pancreas(146;846 1904 7830 25130 26065)												1	Unknown(1)	cervix(1)											84	76	79					12																	112119640		2203	4300	6503	SO:0001630	splice_region_variant	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.155-1G>C	12.37:g.112119640C>G			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Splice_Site	SNP	-	e3-1	ENST00000327551.6	37	c.245-1		12	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655868	0.47467	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAP	110604023	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.877000	0.69675	2.890000	0.99128	0.655000	0.94253	.	BRAP	-	-		0.373	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	C		Intron	112119640	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	112119640	C	G	112119640	5	3	58	1	0	0	0	0	0	0	1	0	1500	927	32	1	1574	1	BRAP	12	112119640	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1897420	112119640	21732255	876	8626										
C12orf43	64897	genome.wustl.edu	37	chr12	121454196	121454196	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaagccggcattgccgcctCgcggcaccgctccagctcct	10	20	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:121454196C>G	ENST00000288757.3	-	1	104	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28Q|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28Q	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											43	43	43					12																	121454196		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.82G>C	12.37:g.121454196C>G	ENSP00000288757:p.Glu28Gln		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.E28Q	ENST00000288757.3	37	c.82	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.169457|3.169457	0.57584|0.57584	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.58940|.	0.38;0.3|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.046078|.	0.85682|.	D|.	0.000000|.	T|T	0.72977|0.72977	0.3528|0.3528	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;D|.	0.64830|.	0.933;0.794;0.994|.	P;P;P|.	0.58577|.	0.812;0.812;0.841|.	T|T	0.75379|0.75379	-0.3338|-0.3338	10|6	0.54805|0.87932	T|D	0.06|0	-38.6147|-38.6147	14.1151|14.1151	0.65149|0.65149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	Q|P	28|32	ENSP00000288757:E28Q;ENSP00000437803:E28Q|.	ENSP00000288757:E28Q|ENSP00000437546:R32P	E|R	-|-	1|2	0|0	C12orf43|C12orf43	119938579|119938579	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	3.546000|3.546000	0.53656|0.53656	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|CGA	C12orf43	-	NULL		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		C	NM_022895		121454196	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	0.999	G	G	121454196	C	G	121454196	3	3	58	1	0	0	0	0	1	0	0	0	1693	893	31	1	730	1	C12orf43	12	121454196	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9334556	121454196	12397699	877	8627										
KNTC1	9735	genome.wustl.edu	37	chr12	123058851	123058851	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttactgaatagatgcagctCaaagtccacatcactctttg	6	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:123058851C>G	ENST00000333479.7	+	27	2483	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	KNTC1_ENST00000450485.2_Nonsense_Mutation_p.S732*	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	769					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.S769*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGATGCAGCTCAAAGTCCACA	0.358																																																	1	Substitution - Nonsense(1)	cervix(1)											90	81	84					12																	123058851		1887	4121	6008	SO:0001587	stop_gained	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2306C>G	12.37:g.123058851C>G	ENSP00000328236:p.Ser769*		A7E2C4|B3KSG2	Nonsense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.S769*	ENST00000333479.7	37	c.2306	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.674367	0.98425	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.61	4.67	0.58626	.	0.143965	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.7595	13.8105	0.63260	0.1138:0.7624:0.1238:0.0	.	.	.	.	X	732;769	.	ENSP00000328236:S769X	S	+	2	0	KNTC1	121624804	0.998000	0.40836	0.988000	0.46212	0.934000	0.57294	3.762000	0.55250	2.640000	0.89533	0.563000	0.77884	TCA	KNTC1	-	NULL		0.358	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	C			123058851	1	no_errors	ENST00000333479	ensembl	human	known	70_37	nonsense	SNP	0.987	G	G	123058851	C	G	123058851	4	3	58	1	0	0	0	0	0	1	0	0	8448	838	29	1	2408	1	KNTC1	12	123058851	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1604655	123058851	10793044	878	8628										
TCTN2	79867	genome.wustl.edu	37	chr12	124158229	124158229	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcctccaatgagacagattCcttctcagagtccccctgta	6	14	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:124158229C>G	ENST00000303372.5	+	4	463	c.335C>G	c.(334-336)tCc>tGc	p.S112C	TCTN2_ENST00000426174.2_Missense_Mutation_p.S111C	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	112					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.S112C(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GAGACAGATTCCTTCTCAGAG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											204	195	198					12																	124158229		2203	4300	6503	SO:0001583	missense	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.335C>G	12.37:g.124158229C>G	ENSP00000304941:p.Ser112Cys		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.S112C	ENST00000303372.5	37	c.335	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104550	0.37145	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83075	-1.68;-1.68	5.05	2.16	0.27623	.	0.361046	0.27311	N	0.019951	T	0.69726	0.3143	L	0.39397	1.21	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.55541	-0.8125	10	0.38643	T	0.18	-10.5493	2.4421	0.04497	0.1479:0.4909:0.2144:0.1468	.	111;112	A8K7Y8;Q96GX1	.;TECT2_HUMAN	C	111;112	ENSP00000395171:S111C;ENSP00000304941:S112C	ENSP00000304941:S112C	S	+	2	0	TCTN2	122724182	0.015000	0.18098	0.001000	0.08648	0.711000	0.40976	0.421000	0.21280	1.109000	0.41680	0.650000	0.86243	TCC	TCTN2	-	NULL		0.443	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	C	NM_024809		124158229	1	no_errors	ENST00000303372	ensembl	human	known	70_37	missense	SNP	0.000	G	G	124158229	C	G	124158229	3	3	58	1	0	0	0	0	1	0	0	0	15753	855	30	1	349	1	TCTN2	12	124158229	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1099378	124158229	9693666	879	8629										
TCTN2	79867	genome.wustl.edu	37	chr12	124158264	124158264	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctgtatcctccagacccttCtggtttcagcatctcataat	5	14	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:124158264C>T	ENST00000303372.5	+	4	498	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	TCTN2_ENST00000426174.2_Silent_p.L123L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	124					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.L124L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CCAGACCCTTCTGGTTTCAGC	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											220	207	212					12																	124158264		2203	4300	6503	SO:0001819	synonymous_variant	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.370C>T	12.37:g.124158264C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.L124	ENST00000303372.5	37	c.370	CCDS9253.1	12																																																																																			TCTN2	-	NULL		0.478	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	C	NM_024809		124158264	1	no_errors	ENST00000303372	ensembl	human	known	70_37	silent	SNP	0.964	T	T	124158264	C	T	124158264	2	4	58	1	0	0	0	0	0	0	0	1	15753	912	32	1		1	TCTN2	12	124158264	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	35	124158264	9693631	880	8630										
RNF17	56163	genome.wustl.edu	37	chr13	25378559	25378559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atagtcctggagatttctatCttcagttggtaagtatataa	8	5	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25378559C>G	ENST00000255324.5	+	15	2135	c.2083C>G	c.(2083-2085)Ctt>Gtt	p.L695V	RNF17_ENST00000255325.6_Intron|RNF17_ENST00000381921.1_Missense_Mutation_p.L695V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	695					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L695V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGATTTCTATCTTCAGTTGGT	0.274																																																	1	Substitution - Missense(1)	cervix(1)											58	57	58					13																	25378559		2199	4299	6498	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2083C>G	13.37:g.25378559C>G	ENSP00000255324:p.Leu695Val		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L695V	ENST00000255324.5	37	c.2083	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838130	0.32513	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.06768	3.26;3.26;3.26	5.25	4.39	0.52855	Maternal tudor protein (1);	0.389637	0.23704	N	0.045395	T	0.08980	0.0222	N	0.13352	0.335	0.80722	D	1	D;P	0.57899	0.981;0.815	P;P	0.58077	0.832;0.532	T	0.24261	-1.0165	10	0.06891	T	0.86	.	10.8807	0.46937	0.3409:0.6591:0.0:0.0	.	695;695	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	V	695;695;554;19	ENSP00000255324:L695V;ENSP00000371346:L695V;ENSP00000388892:L19V	ENSP00000255324:L695V	L	+	1	0	RNF17	24276559	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	1.566000	0.36396	1.169000	0.42739	0.591000	0.81541	CTT	RNF17	-	pfam_Tudor		0.274	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25378559	1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25378559	C	G	25378559	3	3	58	1	0	0	0	0	1	0	0	0	13491	913	32	1	2141	1	RNF17	13	25378559	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		25378559	89791319	881	8631										
RNF17	56163	genome.wustl.edu	37	chr13	25417973	25417973	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgaagtacacaacttaaatCctgtgtctgcaaaatctcta	5	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25417973C>G	ENST00000255324.5	+	20	2747	c.2695C>G	c.(2695-2697)Cct>Gct	p.P899A	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.P899A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	899					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P899A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAACTTAAATCCTGTGTCTGC	0.318																																																	1	Substitution - Missense(1)	cervix(1)											62	62	62					13																	25417973		2203	4294	6497	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2695C>G	13.37:g.25417973C>G	ENSP00000255324:p.Pro899Ala		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.P899A	ENST00000255324.5	37	c.2695	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027157	0.02045	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.12147	3.47;3.48;2.71	4.54	0.7	0.18099	.	0.691991	0.13213	N	0.404995	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31077	0.307;0.0;0.209	B;B;B	0.28991	0.097;0.003;0.053	T	0.33445	-0.9868	10	0.29301	T	0.29	-1.9116	4.0836	0.09937	0.0:0.376:0.3704:0.2536	.	899;899;899	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	899;899;758;223	ENSP00000255324:P899A;ENSP00000371346:P899A;ENSP00000388892:P223A	ENSP00000255324:P899A	P	+	1	0	RNF17	24315973	0.000000	0.05858	0.017000	0.16124	0.038000	0.13279	-0.258000	0.08733	0.222000	0.20900	-0.282000	0.10007	CCT	RNF17	-	NULL		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25417973	1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.005	G	G	25417973	C	G	25417973	3	3	58	1	0	0	0	0	1	0	0	0	13491	855	30	1	2773	1	RNF17	13	25417973	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	39414	25417973	89751905	882	8632										
PABPC3	5042	genome.wustl.edu	37	chr13	25671015	25671015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaaagtaatgaccgatgaaAgtggaaaatccaaaggattt	10	4	0	3	rs75314628	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25671015A>G	ENST00000281589.3	+	1	716	c.679A>G	c.(679-681)Agt>Ggt	p.S227G		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	227	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GACCGATGAAAGTGGAAAATC	0.413													a|||	126	0.0251597	0.0552	0.013	5008	,	,		21269	0.0119		0.0139	False		,,,				2504	0.0184																0													79	74	76					13																	25671015		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.679A>G	13.37:g.25671015A>G	ENSP00000281589:p.Ser227Gly		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.S227G	ENST00000281589.3	37	c.679	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	8.318	0.823719	0.16678	.	.	ENSG00000151846	ENST00000281589	D	0.88896	-2.44	0.993	-1.99	0.07457	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.106561	0.39687	U	0.001298	T	0.77738	0.4175	L	0.33668	1.02	0.25356	N	0.988823	B	0.13145	0.007	B	0.19946	0.027	T	0.62978	-0.6739	10	0.49607	T	0.09	.	2.9462	0.05847	0.5522:0.2525:0.1953:0.0	.	227	Q9H361	PABP3_HUMAN	G	227	ENSP00000281589:S227G	ENSP00000281589:S227G	S	+	1	0	PABPC3	24569015	0.552000	0.26505	0.565000	0.28409	0.898000	0.52572	0.933000	0.28897	-0.777000	0.04572	-0.714000	0.03626	AGT	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.413	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	A	NM_030979		25671015	1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	0.980	G	G	25671015	A	G	25671015	3	3	58	1	0	0	0	0	1	0	0	0	11389	72	3	5	681	5	PABPC3	13	25671015	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	253042	25671015	89498863	883	8633										
PABPC3	5042	genome.wustl.edu	37	chr13	25671651	25671651	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgctcagggtgccagacctCatccattccaaaataagccc	7	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25671651C>T	ENST00000281589.3	+	1	1352	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	439					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.H439Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCCAGACCTCATCCATTCCA	0.512																																																	1	Substitution - Missense(1)	cervix(1)											155	150	152					13																	25671651		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1315C>T	13.37:g.25671651C>T	ENSP00000281589:p.His439Tyr		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.H439Y	ENST00000281589.3	37	c.1315	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	C	0.357	-0.941792	0.02322	.	.	ENSG00000151846	ENST00000281589	T	0.26518	1.73	0.875	0.875	0.19130	.	0.000000	0.48767	U	0.000163	T	0.18341	0.0440	M	0.61703	1.905	0.35309	D	0.783732	B	0.10296	0.003	B	0.09377	0.004	T	0.30534	-0.9975	10	0.02654	T	1	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	439	Q9H361	PABP3_HUMAN	Y	439	ENSP00000281589:H439Y	ENSP00000281589:H439Y	H	+	1	0	PABPC3	24569651	1.000000	0.71417	0.997000	0.53966	0.190000	0.23558	2.335000	0.43929	0.759000	0.33084	0.313000	0.20887	CAT	PABPC3	-	tigrfam_PABP_1234		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	C	NM_030979		25671651	1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25671651	C	T	25671651	3	4	58	1	0	0	0	0	1	0	0	0	11389	826	29	1	1317	1	PABPC3	13	25671651	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	636	25671651	89498227	884	8634										
CDK8	1024	genome.wustl.edu	37	chr13	26959424	26959424	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatccagtggttgttacattCtggtaccgagcccctgaact	10	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:26959424C>T	ENST00000381527.3	+	6	1094	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.F197F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTGTTACATTCTGGTACCGAG	0.358																																																	1	Substitution - coding silent(1)	cervix(1)											90	90	90					13																	26959424		2203	4300	6503	SO:0001819	synonymous_variant	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.591C>T	13.37:g.26959424C>T			Q5VUF3|Q6ISB5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F197	ENST00000381527.3	37	c.591	CCDS9317.1	13																																																																																			CDK8	-	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		0.358	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	C			26959424	1	no_errors	ENST00000381527	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26959424	C	T	26959424	2	4	58	1	0	0	0	0	0	0	0	1	3155	912	32	1		1	CDK8	13	26959424	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1287773	26959424	88210454	885	8635										
SLC46A3	283537	genome.wustl.edu	37	chr13	29286975	29286975	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagaggcactacccaaagctGatccataacctataaaaact	5	11	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:29286975G>C	ENST00000266943.6	-	3	1271	c.902C>G	c.(901-903)tCa>tGa	p.S301*	SLC46A3_ENST00000380814.4_Nonsense_Mutation_p.S301*	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	301					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S301*(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCCAAAGCTGATCCATAACC	0.348																																																	2	Substitution - Nonsense(2)	cervix(2)											94	93	93					13																	29286975		2203	4300	6503	SO:0001587	stop_gained	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.902C>G	13.37:g.29286975G>C	ENSP00000266943:p.Ser301*		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S301*	ENST00000266943.6	37	c.902	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.507231	0.97624	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	.	.	.	5.63	5.63	0.86233	.	0.411457	0.25130	N	0.032908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.5985	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	X	301	.	ENSP00000266943:S301X	S	-	2	0	SLC46A3	28184975	1.000000	0.71417	0.187000	0.23214	0.290000	0.27261	7.074000	0.76791	2.826000	0.97356	0.655000	0.94253	TCA	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.348	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	G	NM_181785		29286975	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	nonsense	SNP	0.599	C	C	29286975	G	C	29286975	4	2	58	1	0	0	0	0	0	1	0	0	14676	1294	45	1	513	1	SLC46A3	13	29286975	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2327551	29286975	85882903	886	8636										
B3GALTL	145173	genome.wustl.edu	37	chr13	31858829	31858829	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agagccaggcaagtctcattGaatactatagtgactatact	8	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:31858829G>A	ENST00000343307.4	+	11	1044	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	299					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E299K(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAGTCTCATTGAATACTATAG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											126	122	124					13																	31858829		2203	4300	6503	SO:0001583	missense	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.895G>A	13.37:g.31858829G>A	ENSP00000343002:p.Glu299Lys		A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	pfam_Fringe-like	p.E299K	ENST00000343307.4	37	c.895	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421475	0.62622	.	.	ENSG00000187676	ENST00000343307	T	0.62941	-0.01	5.78	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.73319	2.225	0.80722	D	1	D	0.64830	0.994	D	0.67725	0.953	T	0.71580	-0.4550	10	0.06236	T	0.91	-30.6237	13.8797	0.63676	0.0746:0.0:0.9254:0.0	.	299	Q6Y288	B3GLT_HUMAN	K	299	ENSP00000343002:E299K	ENSP00000343002:E299K	E	+	1	0	B3GALTL	30756829	1.000000	0.71417	0.690000	0.30148	0.828000	0.46876	7.612000	0.82975	1.456000	0.47831	0.591000	0.81541	GAA	B3GALTL	-	pfam_Fringe-like		0.373	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	G	NM_194318		31858829	1	no_errors	ENST00000343307	ensembl	human	known	70_37	missense	SNP	0.989	A	A	31858829	G	A	31858829	3	1	58	1	0	0	0	0	1	0	0	0	1253	1291	45	1	937	1	B3GALTL	13	31858829	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2571854	31858829	83311049	887	8637										
RXFP2	122042	genome.wustl.edu	37	chr13	32371488	32371488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcttttttatagtgttctCtgatgccatctgctggattc	7	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:32371488C>G	ENST00000298386.2	+	17	2008	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	RXFP2_ENST00000380314.1_Missense_Mutation_p.S622C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	646					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.S646C(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATAGTGTTCTCTGATGCCATC	0.403																																																	1	Substitution - Missense(1)	cervix(1)											215	209	211					13																	32371488		2203	4300	6503	SO:0001583	missense	122042			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1937C>G	13.37:g.32371488C>G	ENSP00000298386:p.Ser646Cys		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.S646C	ENST00000298386.2	37	c.1937	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543215	0.86022	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72394	-0.65;-0.65	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.051556	0.85682	D	0.000000	D	0.82715	0.5097	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.83573	0.0113	10	0.87932	D	0	.	19.7375	0.96212	0.0:1.0:0.0:0.0	.	622;646	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	C	622;646	ENSP00000369670:S622C;ENSP00000298386:S646C	ENSP00000298386:S646C	S	+	2	0	RXFP2	31269488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.467000	0.60155	2.680000	0.91292	0.655000	0.94253	TCT	RXFP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt		0.403	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	C	NM_130806		32371488	1	no_errors	ENST00000298386	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32371488	C	G	32371488	3	3	58	1	0	0	0	0	1	0	0	0	13790	913	32	1	2003	1	RXFP2	13	32371488	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	512659	32371488	82798390	888	8638										
FAM48A	55578	genome.wustl.edu	37	chr13	37598223	37598223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggagaaagcatgctaacttGattgagatccacagatgatt	10	6	0	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:37598223G>C	ENST00000350612.6	-	19	1760	c.1540C>G	c.(1540-1542)Caa>Gaa	p.Q514E	SUPT20H_ENST00000356185.3_Missense_Mutation_p.Q515E|SUPT20H_ENST00000360252.4_Missense_Mutation_p.Q515E|SUPT20H_ENST00000475892.1_Missense_Mutation_p.Q514E|SUPT20H_ENST00000542180.1_Missense_Mutation_p.Q478E|SUPT20H_ENST00000464744.1_Missense_Mutation_p.Q515E	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	514					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.Q514E(1)									ATGCTAACTTGATTGAGATCC	0.403																																																	1	Substitution - Missense(1)	cervix(1)											158	157	157					13																	37598223		2203	4300	6503	SO:0001583	missense	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1540C>G	13.37:g.37598223G>C	ENSP00000218894:p.Gln514Glu		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.Q514E	ENST00000350612.6	37	c.1540	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409267	0.62399	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.52295	0.67;0.84;1.24;0.67;0.67;0.72	5.64	5.64	0.86602	.	0.150228	0.46145	D	0.000304	T	0.63414	0.2509	M	0.72894	2.215	0.53688	D	0.999977	P;P;P;P;B;P;B	0.49447	0.924;0.924;0.924;0.86;0.065;0.731;0.065	P;P;P;B;B;B;B	0.62298	0.9;0.9;0.9;0.304;0.019;0.225;0.019	T	0.58640	-0.7601	10	0.02654	T	1	-1.6837	19.7145	0.96110	0.0:0.0:1.0:0.0	.	478;514;514;515;515;514;514	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.;.;.;.;.;FA48A_HUMAN;.	E	515;514;514;515;514;515;478	ENSP00000353388:Q515E;ENSP00000417510:Q514E;ENSP00000218894:Q514E;ENSP00000348512:Q515E;ENSP00000419754:Q515E;ENSP00000439000:Q478E	ENSP00000218894:Q514E	Q	-	1	0	FAM48A	36496223	1.000000	0.71417	0.988000	0.46212	0.933000	0.57130	8.278000	0.89899	2.654000	0.90174	0.655000	0.94253	CAA	FAM48A	-	NULL		0.403	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	G	NM_017569		37598223	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37598223	G	C	37598223	3	2	58	1	0	0	0	0	1	0	0	0	5590	1299	45	1	831	1	FAM48A	13	37598223	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5226735	37598223	77571655	889	8639										
POSTN	10631	genome.wustl.edu	37	chr13	38164624	38164624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcgctgcgttgtggtggctCccacgatgcccagagtgcca	14	13	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:38164624C>T	ENST00000379747.4	-	4	443	c.326G>A	c.(325-327)gGa>gAa	p.G109E	POSTN_ENST00000541481.1_Missense_Mutation_p.G109E|POSTN_ENST00000379743.4_Missense_Mutation_p.G109E|POSTN_ENST00000541179.1_Missense_Mutation_p.G109E|POSTN_ENST00000379749.4_Missense_Mutation_p.G109E|POSTN_ENST00000379742.4_Missense_Mutation_p.G109E	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	109	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.G109E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTGGTGGCTCCCACGATGCC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											105	92	97					13																	38164624		2203	4300	6503	SO:0001583	missense	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.326G>A	13.37:g.38164624C>T	ENSP00000369071:p.Gly109Glu		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.G109E	ENST00000379747.4	37	c.326	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423238	0.83559	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.36	5.36	0.76844	FAS1 domain (2);	0.101700	0.64402	D	0.000002	D	0.95965	0.8686	M	0.79475	2.455	0.49915	D	0.999831	D;D;D;D;D;P;D	0.89917	1.0;1.0;0.988;1.0;1.0;0.911;0.988	D;D;P;D;D;P;D	0.97110	1.0;1.0;0.876;1.0;0.999;0.646;0.909	D	0.94853	0.8015	10	0.34782	T	0.22	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	109;109;109;109;109;109;109	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	E	109;109;109;109;109;109;26	ENSP00000437959:G109E;ENSP00000369073:G109E;ENSP00000369071:G109E;ENSP00000369067:G109E;ENSP00000369066:G109E;ENSP00000437953:G109E	ENSP00000369066:G109E	G	-	2	0	POSTN	37062624	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.745000	0.68672	2.515000	0.84797	0.650000	0.86243	GGA	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.458	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	C	NM_006475		38164624	-1	no_errors	ENST00000379747	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38164624	C	T	38164624	3	4	58	1	0	0	0	0	1	0	0	0	12283	855	30	1	2264	1	POSTN	13	38164624	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	566401	38164624	77005254	890	8640										
ZC3H13	23091	genome.wustl.edu	37	chr13	46594685	46594685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctatgtctccctcttgaaGattctttctaaaaaagtaca	4	11	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:46594685G>A	ENST00000242848.4	-	5	695	c.347C>T	c.(346-348)tCt>tTt	p.S116F	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S116F			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	116							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S116F(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCCTCTTGAAGATTCTTTCTA	0.279																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												1	Substitution - Missense(1)	cervix(1)											112	106	108					13																	46594685		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.347C>T	13.37:g.46594685G>A	ENSP00000242848:p.Ser116Phe		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S116F	ENST00000242848.4	37	c.347		13	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452769	0.43531	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35973	2.19;1.28	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000019	T	0.51618	0.1685	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.55792	-0.8085	10	0.87932	D	0	.	18.438	0.90653	0.0:0.0:1.0:0.0	.	116;116	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	F	116	ENSP00000242848:S116F;ENSP00000282007:S116F	ENSP00000242848:S116F	S	-	2	0	ZC3H13	45492686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.171000	0.94802	2.362000	0.80069	0.467000	0.42956	TCT	ZC3H13	-	NULL		0.279	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	G	NM_015070		46594685	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46594685	G	A	46594685	3	1	58	1	0	0	0	0	1	0	0	0	17595	942	33	1	4399	1	ZC3H13	13	46594685	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	8430061	46594685	68575193	891	8641										
C13orf18	80183	genome.wustl.edu	37	chr13	46935611	46935611	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actcagggaacctgccagctGagaattaactactgacagta	9	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:46935611G>A	ENST00000429979.1	-	8	1688	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	KIAA0226L_ENST00000389908.3_Nonsense_Mutation_p.Q362*|KIAA0226L_ENST00000378784.4_Nonsense_Mutation_p.Q295*|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.Q362*|KIAA0226L_ENST00000322896.6_Nonsense_Mutation_p.Q205*|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Nonsense_Mutation_p.Q227*|KIAA0226L_ENST00000409879.2_Nonsense_Mutation_p.Q205*|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.Q362*	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	362								p.Q362*(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CCTGCCAGCTGAGAATTAACT	0.438																																																	1	Substitution - Nonsense(1)	cervix(1)											80	73	75					13																	46935611		2203	4300	6503	SO:0001587	stop_gained	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1084C>T	13.37:g.46935611G>A	ENSP00000396935:p.Gln362*		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Nonsense_Mutation	SNP	NULL	p.Q362*	ENST00000429979.1	37	c.1084	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452196	0.84209	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	.	.	.	5.5	5.5	0.81552	.	0.089181	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-6.4851	16.9164	0.86153	0.0:0.0:1.0:0.0	.	.	.	.	X	362;362;295;362;362;205;205;227	.	ENSP00000315633:Q205X	Q	-	1	0	KIAA0226L	45833612	0.997000	0.39634	0.893000	0.35052	0.245000	0.25701	5.355000	0.66046	2.743000	0.94032	0.643000	0.83706	CAG	KIAA0226L	-	NULL		0.438	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	G	NM_025113		46935611	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	nonsense	SNP	0.985	A	A	46935611	G	A	46935611	4	1	58	1	0	0	0	0	0	1	0	0	1724	1299	45	1	936	1	C13orf18	13	46935611	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	340926	46935611	68234267	892	8642										
KPNA3	3839	genome.wustl.edu	37	chr13	50366636	50366636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttctccaagctggggttctCggccatggctgcgcgcggct	15	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:50366636C>T	ENST00000261667.3	-	1	421	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	3	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.E3K(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGGGGTTCTCGGCCATGGCT	0.711																																																	1	Substitution - Missense(1)	cervix(1)											58	58	58					13																	50366636		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.7G>A	13.37:g.50366636C>T	ENSP00000261667:p.Glu3Lys		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E3K	ENST00000261667.3	37	c.7	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434215	0.62955	.	.	ENSG00000102753	ENST00000261667	T	0.08458	3.09	3.34	1.57	0.23409	Importin-alpha, importin-beta-binding domain (1);	0.214881	0.38326	U	0.001734	T	0.04952	0.0133	L	0.27053	0.805	0.41988	D	0.990835	B	0.26400	0.148	B	0.24541	0.054	T	0.43972	-0.9358	10	0.12430	T	0.62	0.0	8.1425	0.31091	0.0:0.7885:0.0:0.2115	.	3	O00505	IMA3_HUMAN	K	3	ENSP00000261667:E3K	ENSP00000261667:E3K	E	-	1	0	KPNA3	49264637	1.000000	0.71417	0.980000	0.43619	0.917000	0.54804	5.613000	0.67688	0.151000	0.19162	0.446000	0.29264	GAG	KPNA3	-	pfscan_Importin-a_IBB		0.711	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	C	NM_002267		50366636	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50366636	C	T	50366636	3	4	58	1	0	0	0	0	1	0	0	0	8451	893	31	1	1626	1	KPNA3	13	50366636	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3431025	50366636	64803242	893	8643										
DHRS12	79758	genome.wustl.edu	37	chr13	52348140	52348140	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcattggtgttcagtttctGaaccaacattcctcctgagg	8	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52348140G>A	ENST00000444610.2	-	7	554	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	DHRS12_ENST00000218981.1_Nonsense_Mutation_p.Q132*|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Nonsense_Mutation_p.Q132*	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	181							oxidoreductase activity (GO:0016491)	p.Q132*(2)		cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTCAGTTTCTGAACCAACATT	0.453																																																	2	Substitution - Nonsense(2)	cervix(2)											183	151	162					13																	52348140		2203	4300	6503	SO:0001587	stop_gained	79758			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.541C>T	13.37:g.52348140G>A	ENSP00000411565:p.Gln181*		Q96GB2|Q9H8H1	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.Q181*	ENST00000444610.2	37	c.541	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844421	0.71488	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	.	.	.	3.39	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.4493	0.27229	0.2279:0.0:0.7721:0.0	.	.	.	.	X	181;132;132	.	ENSP00000218981:Q132X	Q	-	1	0	DHRS12	51246141	1.000000	0.71417	0.921000	0.36526	0.190000	0.23558	6.130000	0.71663	0.434000	0.26340	-0.258000	0.10820	CAG	DHRS12	-	pfam_Epimerase_deHydtase		0.453	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	G	NM_024705		52348140	-1	no_errors	ENST00000444610	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52348140	G	A	52348140	4	1	58	1	0	0	0	0	0	1	0	0	4498	1299	45	1	607	1	DHRS12	13	52348140	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1981504	52348140	62821738	894	8644										
UTP14C	9724	genome.wustl.edu	37	chr13	52604768	52604768	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcatcagagatttcttgaaaGagaagagggaagctgtggag	14	4	3	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52604768G>C	ENST00000521776.2	+	2	2561	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	610					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.E610Q(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTTCTTGAAAGAGAAGAGGGA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											82	89	87					13																	52604768		2203	4297	6500	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1828G>C	13.37:g.52604768G>C	ENSP00000428619:p.Glu610Gln		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E610Q	ENST00000521776.2	37	c.1828	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306602	0.60305	.	.	ENSG00000253797	ENST00000521776	T	0.36699	1.24	2.9	2.9	0.33743	.	0.148326	0.64402	D	0.000012	T	0.55800	0.1943	M	0.85630	2.765	0.46823	D	0.999217	P	0.51240	0.943	P	0.57548	0.823	T	0.62821	-0.6773	9	.	.	.	-29.3733	11.5533	0.50733	0.0:0.0:1.0:0.0	.	610	Q5TAP6	UT14C_HUMAN	Q	610	ENSP00000428619:E610Q	.	E	+	1	0	UTP14C	51502769	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	5.998000	0.70653	1.631000	0.50456	0.455000	0.32223	GAG	UTP14C	-	pfam_SSU_processome_Utp14		0.517	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	G	NM_021645		52604768	1	no_errors	ENST00000521776	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52604768	G	C	52604768	3	2	58	1	0	0	0	0	1	0	0	0	17127	943	33	1	1830	1	UTP14C	13	52604768	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	256628	52604768	62565110	895	8645										
NEK5	341676	genome.wustl.edu	37	chr13	52657447	52657447	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgatggacaggcaggttactCttcttcaccaaataggtttt	9	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52657447C>G	ENST00000355568.4	-	17	1660	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	507					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K564N(1)|p.K507N(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GCAGGTTACTCTTCTTCACCA	0.423																																																	2	Substitution - Missense(2)	cervix(2)											223	185	198					13																	52657447		2203	4300	6503	SO:0001583	missense	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1521G>C	13.37:g.52657447C>G	ENSP00000347767:p.Lys507Asn		Q5TAP5	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K507N	ENST00000355568.4	37	c.1521	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155286	0.21454	.	.	ENSG00000197168	ENST00000355568	T	0.72505	-0.66	5.63	2.67	0.31697	.	0.117464	0.36200	N	0.002736	T	0.63390	0.2507	L	0.54323	1.7	0.23391	N	0.997771	P	0.43750	0.816	B	0.42282	0.382	T	0.56463	-0.7975	10	0.54805	T	0.06	.	6.9601	0.24593	0.0:0.6665:0.0:0.3335	.	507	Q6P3R8	NEK5_HUMAN	N	507	ENSP00000347767:K507N	ENSP00000347767:K507N	K	-	3	2	NEK5	51555448	0.929000	0.31497	0.783000	0.31826	0.074000	0.17049	0.910000	0.28571	0.206000	0.20587	0.455000	0.32223	AAG	NEK5	-	NULL		0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	C	NM_199289		52657447	-1	no_errors	ENST00000355568	ensembl	human	known	70_37	missense	SNP	0.854	G	G	52657447	C	G	52657447	3	3	58	1	0	0	0	0	1	0	0	0	10351	912	32	1	629	1	NEK5	13	52657447	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	52679	52657447	62512431	896	8646										
NEK5	341676	genome.wustl.edu	37	chr13	52667254	52667254	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaactccagtattttcttGaggaatagggtgataacttg	9	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52667254G>A	ENST00000355568.4	-	13	1283	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	382					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q382*(1)|p.Q439*(1)|p.Q439E(1)|p.Q382E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTATTTTCTTGAGGAATAGGG	0.418																																																	4	Substitution - Missense(2)|Substitution - Nonsense(2)	urinary_tract(2)|cervix(2)											176	147	157					13																	52667254		2203	4300	6503	SO:0001587	stop_gained	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1144C>T	13.37:g.52667254G>A	ENSP00000347767:p.Gln382*		Q5TAP5	Nonsense_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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q382*	ENST00000355568.4	37	c.1144	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783663	0.70222	.	.	ENSG00000197168	ENST00000355568	.	.	.	4.86	0.649	0.17806	.	0.983011	0.08246	N	0.975424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	5.455	0.16586	0.1443:0.1224:0.6216:0.1116	.	.	.	.	X	382	.	ENSP00000347767:Q382X	Q	-	1	0	NEK5	51565255	0.992000	0.36948	0.050000	0.19076	0.006000	0.05464	2.191000	0.42640	0.119000	0.18210	-0.350000	0.07774	CAA	NEK5	-	NULL		0.418	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	G	NM_199289		52667254	-1	no_errors	ENST00000355568	ensembl	human	known	70_37	nonsense	SNP	0.105	A	A	52667254	G	A	52667254	4	1	58	1	0	0	0	0	0	1	0	0	10351	1299	45	1	1022	1	NEK5	13	52667254	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	9807	52667254	62502624	897	8647										
HNRNPA1L2	144983	genome.wustl.edu	37	chr13	53216872	53216872	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccacacaaggtggatggaaGagttgtggaaccaaagagag	15	6	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:53216872G>A	ENST00000357495.2	+	1	305	c.245G>A	c.(244-246)aGa>aAa	p.R82K	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R82K|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R82K			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	82	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R82K(1)		cervix(1)|large_intestine(1)|lung(5)	7						GTGGATGGAAGAGTTGTGGAA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											35	36	35					13																	53216872		1990	3803	5793	SO:0001583	missense	144983				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.245G>A	13.37:g.53216872G>A	ENSP00000350090:p.Arg82Lys		Q5TBS2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.R82K	ENST00000357495.2	37	c.245	CCDS31980.1	13	.	.	.	.	.	.	.	.	.	.	g	17.13	3.309679	0.60414	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.92048	-2.96;-2.96;-2.96	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.128510	0.28072	U	0.016713	T	0.81931	0.4927	N	0.10733	0.035	0.29845	N	0.828887	B	0.31290	0.318	B	0.39617	0.305	T	0.75196	-0.3403	10	0.31617	T	0.26	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	82	Q32P51	RA1L2_HUMAN	K	82	ENSP00000341285:R82K;ENSP00000381119:R82K;ENSP00000350090:R82K	ENSP00000341285:R82K	R	+	2	0	HNRNPA1L2	52114873	0.993000	0.37304	0.973000	0.42090	0.122000	0.20287	6.482000	0.73613	0.455000	0.26910	0.089000	0.15464	AGA	HNRNPA1L2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.478	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	HGNC	protein_coding	OTTHUMT00000045098.1	G	NM_001011724		53216872	1	no_errors	ENST00000342657	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53216872	G	A	53216872	3	1	58	1	0	0	0	0	1	0	0	0	7278	942	33	1	247	1	HNRNPA1L2	13	53216872	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	549618	53216872	61953006	898	8648										
C13orf34	79866	genome.wustl.edu	37	chr13	73318687	73318687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcctgtggattttaatttaGaaaatatattaggtaaatac	6	3	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:73318687G>C	ENST00000390667.5	+	7	596	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.E97Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.E167Q(1)									TTTTAATTTAGAAAATATATT	0.294																																																	1	Substitution - Missense(1)	cervix(1)											53	50	51					13																	73318687		1794	4068	5862	SO:0001583	missense	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.499G>C	13.37:g.73318687G>C	ENSP00000375082:p.Glu167Gln		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.E167Q	ENST00000390667.5	37	c.499	CCDS9446.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.599640|4.599640	0.87055|0.87055	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377815;ENST00000390667|ENST00000377814	T;T|.	0.43294|.	0.95;1.04|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82360|0.82360	0.5020|0.5020	M|M	0.81497|0.81497	2.545|2.545	0.53688|0.53688	D|D	0.999975|0.999975	D;D;D;D|.	0.89917|.	1.0;0.998;0.998;0.998|.	D;D;D;D|.	0.85130|.	0.997;0.987;0.991;0.987|.	T|T	0.81653|0.81653	-0.0835|-0.0835	10|5	0.87932|.	D|.	0|.	-26.0824|-26.0824	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97;167;227;167|.	B4DQ30;A8K631;B5LMG6;Q6PGQ7|.	.;.;.;BORA_HUMAN|.	Q|T	97;167|144	ENSP00000367046:E97Q;ENSP00000375082:E167Q|.	ENSP00000367046:E97Q|.	E|R	+|+	1|2	0|0	BORA|BORA	72216688|72216688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.233000|7.233000	0.78125|0.78125	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAA|AGA	BORA	-	prints_Aurora_borealis_protien		0.294	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	G	NM_024808		73318687	1	no_errors	ENST00000390667	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73318687	G	C	73318687	3	2	58	1	0	0	0	0	1	0	0	0	1732	943	33	1	521	1	C13orf34	13	73318687	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	20101815	73318687	41851191	899	8649										
RBM26	64062	genome.wustl.edu	37	chr13	79916921	79916921	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcattatttctgctttatCttcagacttcattgttttgt	4	7	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:79916921C>G	ENST00000438737.2	-	17	2745	c.2305G>C	c.(2305-2307)Gat>Cat	p.D769H	RBM26_ENST00000438724.1_Missense_Mutation_p.D745H|RBM26_ENST00000267229.7_Missense_Mutation_p.D742H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	769					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D769H(1)|p.D742H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTGCTTTATCTTCAGACTTC	0.303																																																	2	Substitution - Missense(2)	cervix(2)											82	85	84					13																	79916921		2203	4298	6501	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2305G>C	13.37:g.79916921C>G	ENSP00000387531:p.Asp769His		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D769H	ENST00000438737.2	37	c.2305		13	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417433	0.83449	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.91792	-1.94;-2.91	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.999	D	0.94289	0.7527	9	.	.	.	-18.8875	19.2247	0.93814	0.0:1.0:0.0:0.0	.	126;745;769;742	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	H	742;770;769;745	ENSP00000267229:D742H;ENSP00000390222:D745H	.	D	-	1	0	RBM26	78814922	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.249000	0.78278	2.602000	0.87976	0.467000	0.42956	GAT	RBM26	-	NULL		0.303	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	C	NM_022118		79916921	-1	no_errors	ENST00000327303	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79916921	C	G	79916921	3	3	58	1	0	0	0	0	1	0	0	0	13156	913	32	1	742	1	RBM26	13	79916921	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6598234	79916921	35252957	900	8650										
SLITRK1	114798	genome.wustl.edu	37	chr13	84454215	84454215	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaggttgttgttgagaatGaggatcctcagtttgggcat	14	5	1	2	rs142639256		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:84454215G>T	ENST00000377084.2	-	1	2313	c.1428C>A	c.(1426-1428)ctC>ctA	p.L476L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	476					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L476L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTGAGAATGAGGATCCTCA	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											68	64	65					13																	84454215		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1428C>A	13.37:g.84454215G>T			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L476	ENST00000377084.2	37	c.1428	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454215	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	T	T	84454215	G	T	84454215	2	4	58	1	0	0	0	0	0	0	0	1	14772	1277	45	3		3	SLITRK1	13	84454215	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4537294	84454215	30715663	901	8651										
ARHGEF7	8874	genome.wustl.edu	37	chr13	111927125	111927125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaaaatccatggctgccttCaaaaacctttcagtaagtga	6	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:111927125C>T	ENST00000375741.2	+	12	1573	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	ARHGEF7_ENST00000375739.2_Silent_p.F391F|ARHGEF7_ENST00000317133.5_Silent_p.F420F|ARHGEF7_ENST00000218789.5_Silent_p.F263F|ARHGEF7_ENST00000478679.1_Silent_p.F185F|ARHGEF7_ENST00000370623.3_Silent_p.F348F|ARHGEF7_ENST00000375736.4_Silent_p.F263F|ARHGEF7_ENST00000375737.5_Silent_p.F338F|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375723.1_Silent_p.F263F|ARHGEF7_ENST00000426073.2_Silent_p.F263F|ARHGEF7_ENST00000544132.1_Silent_p.F97F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F420F(1)|p.F263F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGCTGCCTTCAAAAACCTTT	0.303																																																	2	Substitution - coding silent(2)	cervix(2)											95	95	95					13																	111927125		2203	4299	6502	SO:0001819	synonymous_variant	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1323C>T	13.37:g.111927125C>T			B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.F441	ENST00000375741.2	37	c.1323	CCDS45068.1	13																																																																																			ARHGEF7	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.303	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111927125	1	no_errors	ENST00000375741	ensembl	human	known	70_37	silent	SNP	1.000	T	T	111927125	C	T	111927125	2	4	58	1	0	0	0	0	0	0	0	1	911	825	29	1		1	ARHGEF7	13	111927125	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	27472910	111927125	3242753	902	8652										
ATP11A	23250	genome.wustl.edu	37	chr13	113514622	113514622	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttgtacgacaccgcgtatCtgaccctctacaacatcagc	6	15	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:113514622C>G	ENST00000487903.1	+	24	2837	c.2749C>G	c.(2749-2751)Ctg>Gtg	p.L917V	ATP11A_ENST00000375645.3_Missense_Mutation_p.L917V|ATP11A_ENST00000283558.8_Missense_Mutation_p.L917V|ATP11A_ENST00000375630.2_Missense_Mutation_p.L917V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	917					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L917V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CACCGCGTATCTGACCCTCTA	0.463																																																	2	Substitution - Missense(2)	cervix(2)											233	201	212					13																	113514622		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2749C>G	13.37:g.113514622C>G	ENSP00000420387:p.Leu917Val		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L917V	ENST00000487903.1	37	c.2749	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.950615|3.950615	0.73787|0.73787	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.90004	.|-2.6;-2.6;-2.6;-2.6	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;P	.|0.69078	.|0.997;0.947;0.756	.|D;P;P	.|0.67548	.|0.952;0.829;0.688	D|D	0.94944|0.94944	0.8094|0.8094	5|10	.|0.72032	.|D	.|0.01	.|.	19.0225|19.0225	0.92920|0.92920	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|917;917;917	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	M|V	891|917	.|ENSP00000420387:L917V;ENSP00000364781:L917V;ENSP00000364796:L917V;ENSP00000283558:L917V	.|ENSP00000283558:L917V	I|L	+|+	3|1	3|2	ATP11A|ATP11A	112562623|112562623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	3.371000|3.371000	0.52379|0.52379	2.487000|2.487000	0.83934|0.83934	0.561000|0.561000	0.74099|0.74099	ATC|CTG	ATP11A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.463	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	C	NM_015205		113514622	1	no_errors	ENST00000375630	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113514622	C	G	113514622	3	3	58	1	0	0	0	0	1	0	0	0	1120	912	32	1	2843	1	ATP11A	13	113514622	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1587497	113514622	1655256	903	8653										
MCF2L	23263	genome.wustl.edu	37	chr13	113742677	113742677	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttaaagccgcgtgggtgaatGaaattcggaaagtgctgacc	13	7	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:113742677G>A	ENST00000375608.3	+	25	2873	c.2815G>A	c.(2815-2817)Gaa>Aaa	p.E939K	MCF2L_ENST00000423482.2_Missense_Mutation_p.E907K|MCF2L_ENST00000442652.2_Missense_Mutation_p.E939K|MCF2L_ENST00000375601.3_Missense_Mutation_p.E913K|MCF2L_ENST00000434480.2_Missense_Mutation_p.E915K|MCF2L_ENST00000397030.1_Missense_Mutation_p.E942K|MCF2L_ENST00000421756.1_Missense_Mutation_p.E913K|MCF2L_ENST00000375604.2_Missense_Mutation_p.E966K|MCF2L_ENST00000535094.2_Missense_Mutation_p.E909K|MCF2L_ENST00000375597.4_Missense_Mutation_p.E907K			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	939	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E913K(1)|p.E966K(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTGGGTGAATGAAATTCGGAA	0.542																																																	2	Substitution - Missense(2)	cervix(2)											108	112	110					13																	113742677		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2815G>A	13.37:g.113742677G>A	ENSP00000364758:p.Glu939Lys		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E966K	ENST00000375608.3	37	c.2896		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.55|15.55	2.866491|2.866491	0.51588|0.51588	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.	0.75050|.	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;-0.9|.	4.14|4.14	3.28|3.28	0.37604|0.37604	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70587|0.70587	0.3241|0.3241	M|M	0.70787|0.70787	2.145|2.145	0.53688|0.53688	D|D	0.999976|0.999976	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.996;1.0|.	D;D;D;D;D|.	0.79108|.	0.986;0.986;0.986;0.931;0.992|.	T|T	0.69386|0.69386	-0.5159|-0.5159	10|5	0.87932|.	D|.	0|.	.|.	13.0223|13.0223	0.58796|0.58796	0.0:0.0:0.8374:0.1626|0.0:0.0:0.8374:0.1626	.|.	907;909;966;907;939|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.;.;.;.;MCF2L_HUMAN|.	K|I	939;939;966;942;909;913;913;915;907;907;750|138;79	ENSP00000364758:E939K;ENSP00000401422:E939K;ENSP00000364754:E966K;ENSP00000380225:E942K;ENSP00000440374:E909K;ENSP00000397285:E913K;ENSP00000364751:E913K;ENSP00000407722:E915K;ENSP00000405639:E907K;ENSP00000364747:E907K|.	ENSP00000364747:E907K|.	E|M	+|+	1|3	0|0	MCF2L|MCF2L	112790678|112790678	1.000000|1.000000	0.71417|0.71417	0.052000|0.052000	0.19188|0.19188	0.018000|0.018000	0.09664|0.09664	8.666000|8.666000	0.91149|0.91149	0.702000|0.702000	0.31825|0.31825	0.563000|0.563000	0.77884|0.77884	GAA|ATG	MCF2L	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113742677	1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113742677	G	A	113742677	3	1	58	1	0	0	0	0	1	0	0	0	9402	1291	45	1	3085	1	MCF2L	13	113742677	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	228055	113742677	1427201	904	8654										
F7	2155	genome.wustl.edu	37	chr13	113770018	113770018	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaacgagaacggcggctgtGagcagtactgcagtgaccac	14	10	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:113770018G>C	ENST00000375581.3	+	6	510	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	F7_ENST00000541084.1_Missense_Mutation_p.E90Q|F7_ENST00000346342.3_Missense_Mutation_p.E137Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	159	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGGCGGCTGTGAGCAGTACTG	0.632																																																	0													55	44	48					13																	113770018		2202	4300	6502	SO:0001583	missense	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.475G>C	13.37:g.113770018G>C	ENSP00000364731:p.Glu159Gln		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.E159Q	ENST00000375581.3	37	c.475	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964218	0.18583	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.91792	-2.91;-2.78;-2.91	4.3	1.46	0.22682	Epidermal growth factor-like (1);	0.365474	0.26731	N	0.022800	D	0.89729	0.6799	L	0.28192	0.835	0.42493	D	0.992902	P;P;B;B	0.39424	0.673;0.544;0.384;0.265	P;B;B;B	0.48952	0.596;0.327;0.139;0.115	D	0.86875	0.2038	10	0.49607	T	0.09	.	13.6303	0.62191	0.0:0.4548:0.5452:0.0	.	90;90;137;159	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	Q	137;90;159	ENSP00000329546:E137Q;ENSP00000442051:E90Q;ENSP00000364731:E159Q	ENSP00000329546:E137Q	E	+	1	0	F7	112818019	0.834000	0.29399	0.978000	0.43139	0.215000	0.24574	0.262000	0.18460	0.070000	0.16634	-0.300000	0.09419	GAG	F7	-	smart_EG-like_dom,pirsf_Pept_S1A_FX		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	G	NM_000131		113770018	1	no_errors	ENST00000375581	ensembl	human	known	70_37	missense	SNP	0.998	C	C	113770018	G	C	113770018	3	2	58	1	0	0	0	0	1	0	0	0	5361	1291	45	1	497	1	F7	13	113770018	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	27341	113770018	1399860	905	8655										
OR11H12	440153	genome.wustl.edu	37	chr14	19377637	19377637	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactggcctaatgaatgtctCtgagccaaattccagctttg	8	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:19377637C>T	ENST00000550708.1	+	1	116	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAATGTCTCTGAGCCAAAT	0.373																																																	0													9	9	9					14																	19377637		1440	3093	4533	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.44C>T	14.37:g.19377637C>T	ENSP00000449002:p.Ser15Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S15F	ENST00000550708.1	37	c.44	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	c	3.670	-0.067733	0.07273	.	.	ENSG00000257115	ENST00000550708	T	0.54675	0.56	.	.	.	.	0.329841	0.19344	U	0.116580	T	0.34454	0.0898	L	0.27053	0.805	0.25222	N	0.989898	B	0.21688	0.059	B	0.21546	0.035	T	0.29852	-0.9998	8	0.41790	T	0.15	.	6.4784	0.22049	0.0:0.9998:0.0:2.0E-4	.	15	B2RN74	O11HC_HUMAN	F	15	ENSP00000449002:S15F	ENSP00000449002:S15F	S	+	2	0	CR383656.1	18447637	0.000000	0.05858	0.564000	0.28396	0.170000	0.22686	0.057000	0.14279	0.413000	0.25759	0.064000	0.15345	TCT	OR11H12	-	NULL		0.373	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	C	NM_001013354		19377637	1	no_errors	ENST00000550708	ensembl	human	known	70_37	missense	SNP	0.977	T	T	19377637	C	T	19377637	3	4	58	1	0	0	0	0	1	0	0	0	10951	913	32	1	46	1	OR11H12	14	19377637	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		19377637	87971903	906	8656										
PNP	4860	genome.wustl.edu	37	chr14	20944590	20944590	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgcacggcactgtggacttCgagtctttggcttctcactc	10	12	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:20944590C>T	ENST00000361505.5	+	6	846	c.700C>T	c.(700-702)Cga>Tga	p.R234*	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.R234*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CTGTGGACTTCGAGTCTTTGG	0.448																																																	1	Substitution - Nonsense(1)	cervix(1)	GRCh37	CM044240	PNP	M							161	135	144					14																	20944590		2203	4300	6503	SO:0001587	stop_gained	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.700C>T	14.37:g.20944590C>T	ENSP00000354532:p.Arg234*			Nonsense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase	p.R234*	ENST00000361505.5	37	c.700	CCDS9552.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.238531	0.97403	.	.	ENSG00000198805	ENST00000361505	.	.	.	4.6	4.6	0.57074	.	0.181344	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-11.5789	16.3637	0.83296	0.0:1.0:0.0:0.0	.	.	.	.	X	234	.	ENSP00000354532:R234X	R	+	1	2	PNP	20014430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.590000	0.46154	2.373000	0.80994	0.650000	0.86243	CGA	PNP	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase		0.448	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNP	HGNC	protein_coding	OTTHUMT00000073646.2	C	NM_000270.2		20944590	1	no_errors	ENST00000361505	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	20944590	C	T	20944590	4	4	58	1	0	0	0	0	0	1	0	0	12187	876	31	1	722	1	PNP	14	20944590	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1566953	20944590	86404950	907	8657										
CHD8	57680	genome.wustl.edu	37	chr14	21870148	21870148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaaccttttccttcagattCaatggtgatggttgtagttc	10	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:21870148C>T	ENST00000557364.1	-	20	4293	c.4030G>A	c.(4030-4032)Gaa>Aaa	p.E1344K	CHD8_ENST00000430710.3_Missense_Mutation_p.E1065K|CHD8_ENST00000399982.2_Missense_Mutation_p.E1344K|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1344					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.E1344K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTTCAGATTCAATGGTGATG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											173	168	169					14																	21870148		2010	4208	6218	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4030G>A	14.37:g.21870148C>T	ENSP00000451601:p.Glu1344Lys		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1344K	ENST00000557364.1	37	c.4030	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.403374	0.96051	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83591	-1.74;-1.74;-1.74	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.71036	2.16	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.68943	0.915;0.961	D	0.90193	0.4251	10	0.62326	D	0.03	-15.5267	19.6509	0.95805	0.0:1.0:0.0:0.0	.	1344;1065	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	K	1065;1344;1064;1344	ENSP00000406288:E1065K;ENSP00000382863:E1344K;ENSP00000451601:E1344K	ENSP00000262707:E1064K	E	-	1	0	CHD8	20939988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.043000	0.71004	2.941000	0.99782	0.655000	0.94253	GAA	CHD8	-	NULL		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21870148	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21870148	C	T	21870148	3	4	58	1	0	0	0	0	1	0	0	0	3336	835	29	1	3791	1	CHD8	14	21870148	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	925558	21870148	85479392	908	8658										
CHD8	57680	genome.wustl.edu	37	chr14	21870187	21870187	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcgtcttaacaagatctggtCaatgtcctcttcacaaaact	5	11	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:21870187C>G	ENST00000557364.1	-	20	4254	c.3991G>C	c.(3991-3993)Gac>Cac	p.D1331H	CHD8_ENST00000430710.3_Missense_Mutation_p.D1052H|CHD8_ENST00000399982.2_Missense_Mutation_p.D1331H|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1331					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.D1331H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGATCTGGTCAATGTCCTCT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											172	167	168					14																	21870187		2033	4229	6262	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3991G>C	14.37:g.21870187C>G	ENSP00000451601:p.Asp1331His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1331H	ENST00000557364.1	37	c.3991	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.430252|4.430252	0.83776|0.83776	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.78246|.	-1.16;-1.16;-1.16|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87406|.	0.6169|.	M|M	0.94063|0.94063	3.49|3.49	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	D|.	0.89274|.	0.3607|.	10|.	0.87932|.	D|.	0|.	-12.4744|-12.4744	19.6509|19.6509	0.95805|0.95805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1331;1052|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	H|S	1052;1331;1051;1331|556	ENSP00000406288:D1052H;ENSP00000382863:D1331H;ENSP00000451601:D1331H|.	ENSP00000262707:D1051H|.	D|X	-|-	1|2	0|2	CHD8|CHD8	20940027|20940027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.776000|7.776000	0.85560|0.85560	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|TGA	CHD8	-	NULL		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21870187	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21870187	C	G	21870187	3	3	58	1	0	0	0	0	1	0	0	0	3336	826	29	1	3830	1	CHD8	14	21870187	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	39	21870187	85479353	909	8659										
OR10G2	26534	genome.wustl.edu	37	chr14	22102067	22102067	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttattttcattcagtccttCaacctgctgttatcctcttc	3	13	4	0	rs551427146		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:22102067C>T	ENST00000542433.1	-	1	1029	c.932G>A	c.(931-933)tGa>tAa	p.*311*		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*311*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCAGTCCTTCAACCTGCTGT	0.438													C|||	1	0.000199681	0	0	5008	,	,		10544	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)											113	105	108					14																	22102067		2203	4300	6503	SO:0001819	synonymous_variant	26534				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.932G>A	14.37:g.22102067C>T			B2RPD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*311	ENST00000542433.1	37	c.932	CCDS32047.1	14																																																																																			OR10G2	-	NULL		0.438	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	C			22102067	-1	no_errors	ENST00000542433	ensembl	human	known	70_37	silent	SNP	0.000	T	T	22102067	C	T	22102067	2	4	58	1	0	0	0	0	0	0	0	1	10923	840	29	1		1	OR10G2	14	22102067	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	231880	22102067	85247473	910	8660										
SLC22A17	51310	genome.wustl.edu	37	chr14	23821025	23821025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caagatgaagaggatctgctCcaggatcacctgccagccca	10	13	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:23821025C>G	ENST00000206544.8	-	2	643	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000397267.1_Missense_Mutation_p.E103Q|SLC22A17_ENST00000354772.3_Missense_Mutation_p.E103Q|SLC22A17_ENST00000474057.1_Intron	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	103				E -> G (in Ref. 1; ABG45942). {ECO:0000305}.	ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.E103Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGATCTGCTCCAGGATCACC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											73	60	65					14																	23821025		2203	4300	6503	SO:0001583	missense	51310			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.307G>C	14.37:g.23821025C>G	ENSP00000206544:p.Glu103Gln		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E103Q	ENST00000206544.8	37	c.307	CCDS9593.1	14	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613999	0.66672	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.58506	0.33;0.33;0.33	3.67	3.67	0.42095	Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000005	T	0.64136	0.2571	L	0.33245	0.995	0.46298	D	0.998971	D;P;D	0.76494	0.999;0.884;0.986	D;P;P	0.75484	0.986;0.54;0.771	T	0.62872	-0.6762	10	0.33940	T	0.23	-8.3591	14.3005	0.66346	0.0:1.0:0.0:0.0	.	103;103;103	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	Q	103	ENSP00000346824:E103Q;ENSP00000206544:E103Q;ENSP00000380437:E103Q	ENSP00000206544:E103Q	E	-	1	0	SLC22A17	22890865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.053000	0.41326	1.867000	0.54127	0.462000	0.41574	GAG	SLC22A17	-	pfam_MFS,pfscan_MFS_dom		0.657	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	HGNC	protein_coding	OTTHUMT00000157223.3	C	NM_020372		23821025	-1	no_errors	ENST00000206544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23821025	C	G	23821025	3	3	58	1	0	0	0	0	1	0	0	0	14478	864	30	1	1341	1	SLC22A17	14	23821025	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1718958	23821025	83528515	911	8661										
IL25	64806	genome.wustl.edu	37	chr14	23844999	23844999	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggcggccatgccatggcgaGaagggcacccacaagggcta	15	13	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:23844999G>A	ENST00000329715.2	+	2	702	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Silent_p.E132E|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	148					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)	p.E148E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GCCATGGCGAGAAGGGCACCC	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											105	95	99					14																	23844999		2203	4300	6503	SO:0001819	synonymous_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.444G>A	14.37:g.23844999G>A			Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	pfam_Interleukin-17	p.E148	ENST00000329715.2	37	c.444	CCDS9597.1	14																																																																																			IL25	-	pfam_Interleukin-17		0.637	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	HGNC	protein_coding	OTTHUMT00000071789.2	G			23844999	1	no_errors	ENST00000329715	ensembl	human	known	70_37	silent	SNP	0.003	A	A	23844999	G	A	23844999	2	1	58	1	0	0	0	0	0	0	0	1	7698	933	33	1		1	IL25	14	23844999	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	23974	23844999	83504541	912	8662										
LRRC16B	90668	genome.wustl.edu	37	chr14	24522998	24522998	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agacaaagcccaagaagtttGaggaccgagtgctggtgagg	15	7	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:24522998G>C	ENST00000342740.5	+	2	275	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	RP11-468E2.9_ENST00000558293.1_RNA|LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	41						cytoplasm (GO:0005737)		p.E41Q(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CAAGAAGTTTGAGGACCGAGT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											51	37	42					14																	24522998		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.121G>C	14.37:g.24522998G>C	ENSP00000340467:p.Glu41Gln		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E41Q	ENST00000342740.5	37	c.121	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093892	0.56075	.	.	ENSG00000186648	ENST00000342740	T	0.20598	2.06	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000012	T	0.41166	0.1147	M	0.64567	1.98	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.05550	-1.0878	10	0.28530	T	0.3	-13.1183	14.3127	0.66426	0.0:0.0:1.0:0.0	.	41	Q8ND23	LR16B_HUMAN	Q	41	ENSP00000340467:E41Q	ENSP00000340467:E41Q	E	+	1	0	LRRC16B	23592838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.503000	0.60407	2.517000	0.84864	0.462000	0.41574	GAG	LRRC16B	-	NULL		0.632	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	G	NM_138360		24522998	1	no_errors	ENST00000342740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24522998	G	C	24522998	3	2	58	1	0	0	0	0	1	0	0	0	8995	1291	45	1	127	1	LRRC16B	14	24522998	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	677999	24522998	82826542	913	8663										
DCAF11	80344	genome.wustl.edu	37	chr14	24588935	24588935	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctagattgagtcccatgagGatgatgtgaatgcagtggcc	13	8	0	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:24588935G>C	ENST00000446197.3	+	11	1649	c.922G>C	c.(922-924)Gat>Cat	p.D308H	RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Missense_Mutation_p.D308H|DCAF11_ENST00000396941.4_Missense_Mutation_p.D282H|DCAF11_ENST00000396936.1_Missense_Mutation_p.D208H	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	308					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.D308H(1)									GTCCCATGAGGATGATGTGAA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											111	101	104					14																	24588935		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.922G>C	14.37:g.24588935G>C	ENSP00000415556:p.Asp308His		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D308H	ENST00000446197.3	37	c.922	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	20.1	3.933082	0.73442	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.60424	0.19;0.19	5.97	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046353	0.85682	D	0.000000	T	0.71719	0.3373	M	0.66560	2.04	0.58432	D	0.999998	D;D;D;P;D	0.89917	1.0;0.999;0.994;0.786;0.999	D;D;P;P;D	0.74674	0.984;0.923;0.896;0.493;0.954	T	0.69903	-0.5019	10	0.41790	T	0.15	-14.2488	13.328	0.60471	0.0883:0.0:0.9117:0.0	.	231;282;208;308;308	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	H	308;282;208;282	ENSP00000380142:D208H;ENSP00000380146:D282H	ENSP00000323680:D308H	D	+	1	0	DCAF11	23658775	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.465000	0.73538	2.837000	0.97791	0.655000	0.94253	GAT	DCAF11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	G			24588935	1	no_errors	ENST00000446197	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24588935	G	C	24588935	3	2	58	1	0	0	0	0	1	0	0	0	4267	1174	41	1	960	1	DCAF11	14	24588935	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	65937	24588935	82760605	914	8664										
DHRS1	115817	genome.wustl.edu	37	chr14	24765737	24765737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagtccgacgttgttgatatCatcccacatggaggcagggg	14	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:24765737C>T	ENST00000288111.7	-	4	628	c.352G>A	c.(352-354)Gat>Aat	p.D118N	DHRS1_ENST00000396813.1_Missense_Mutation_p.D118N	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	118						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)	p.D118N(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TTGTTGATATCATCCCACATG	0.552											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											175	139	151					14																	24765737		2203	4300	6503	SO:0001583	missense	115817			AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16445	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 19C, member 1"	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.352G>A	14.37:g.24765737C>T	ENSP00000288111:p.Asp118Asn	773	D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH	p.D118N	ENST00000288111.7	37	c.352	CCDS9623.1	14	.	.	.	.	.	.	.	.	.	.	c	17.63	3.437394	0.62955	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87887	-2.31;-2.31	5.16	5.16	0.70880	NAD(P)-binding domain (1);	0.195184	0.45606	D	0.000344	T	0.80065	0.4555	N	0.25332	0.735	0.38037	D	0.935357	B	0.26635	0.155	B	0.29663	0.105	T	0.77169	-0.2686	10	0.23302	T	0.38	-16.724	14.154	0.65405	0.0:1.0:0.0:0.0	.	118	Q96LJ7	DHRS1_HUMAN	N	118	ENSP00000288111:D118N;ENSP00000380027:D118N	ENSP00000288111:D118N	D	-	1	0	DHRS1	23835577	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.653000	0.37323	2.395000	0.81488	0.651000	0.88453	GAT	DHRS1	-	pfam_DH_sc/Rdtase_SDR		0.552	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS1	HGNC	protein_coding	OTTHUMT00000073168.4	C	NM_138452		24765737	-1	no_errors	ENST00000288111	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24765737	C	T	24765737	3	4	58	1	0	0	0	0	1	0	0	0	4496	826	29	1	613	1	DHRS1	14	24765737	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	176802	24765737	82583803	915	8665										
COCH	1690	genome.wustl.edu	37	chr14	31358950	31358950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gattagaaccaattgtttctGatgtcatcagaggcatttgt	9	6	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:31358950G>C	ENST00000396618.3	+	12	1662	c.1606G>C	c.(1606-1608)Gat>Cat	p.D536H	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.D536H|COCH_ENST00000460581.2_Missense_Mutation_p.D424H|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.D387H|COCH_ENST00000475087.1_Intron	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	536	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.D536H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AATTGTTTCTGATGTCATCAG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											78	77	77					14																	31358950		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1606G>C	14.37:g.31358950G>C	ENSP00000379862:p.Asp536His		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.D536H	ENST00000396618.3	37	c.1606	CCDS9640.1	14	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336209	0.60963	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000460581;ENST00000382493	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.09	4.2	0.49525	von Willebrand factor, type A (2);	0.342219	0.33631	N	0.004713	D	0.85509	0.5713	M	0.66939	2.045	0.39586	D	0.969519	D;P	0.71674	0.998;0.934	D;P	0.70935	0.971;0.694	D	0.86683	0.1918	10	0.52906	T	0.07	-12.259	13.6683	0.62409	0.075:0.0:0.925:0.0	.	387;536	E7EN67;O43405	.;COCH_HUMAN	H	536;536;424;387	ENSP00000216361:D536H;ENSP00000379862:D536H;ENSP00000451713:D424H;ENSP00000371933:D387H	ENSP00000216361:D536H	D	+	1	0	COCH	30428701	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.723000	0.68492	1.142000	0.42291	0.591000	0.81541	GAT	COCH	-	smart_VWF_A,pfscan_VWF_A		0.398	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	G	NM_004086		31358950	1	no_errors	ENST00000216361	ensembl	human	known	70_37	missense	SNP	0.969	C	C	31358950	G	C	31358950	3	2	58	1	0	0	0	0	1	0	0	0	3661	1290	45	1	1648	1	COCH	14	31358950	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6593213	31358950	75990590	916	8666										
AKAP6	9472	genome.wustl.edu	37	chr14	33015502	33015502	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaggggccacaaacaaattCtgcttccacatcctcacttg	7	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:33015502C>G	ENST00000280979.4	+	4	1813	c.1643C>G	c.(1642-1644)tCt>tGt	p.S548C	AKAP6_ENST00000557272.1_Missense_Mutation_p.S548C|AKAP6_ENST00000557354.1_Missense_Mutation_p.S548C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	548					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S548C(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAACAAATTCTGCTTCCACA	0.438																																					Melanoma(49;821 1200 7288 13647 42351)												1	Substitution - Missense(1)	cervix(1)											72	76	74					14																	33015502		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1643C>G	14.37:g.33015502C>G	ENSP00000280979:p.Ser548Cys		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S548C	ENST00000280979.4	37	c.1643	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054614	0.55218	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.11	5.22	0.72569	.	0.346153	0.29410	N	0.012228	T	0.65004	0.2650	L	0.60455	1.87	0.43141	D	0.994894	D;D	0.71674	0.997;0.998	P;P	0.60173	0.817;0.87	T	0.69146	-0.5222	10	0.87932	D	0	-3.1365	13.1801	0.59649	0.0:0.9264:0.0:0.0736	.	548;548	A7E242;Q13023	.;AKAP6_HUMAN	C	548;548;548;306	ENSP00000280979:S548C;ENSP00000450531:S548C;ENSP00000451247:S548C;ENSP00000451239:S306C	ENSP00000280979:S548C	S	+	2	0	AKAP6	32085253	1.000000	0.71417	0.967000	0.41034	0.767000	0.43475	2.887000	0.48586	1.600000	0.50102	0.655000	0.94253	TCT	AKAP6	-	NULL		0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33015502	1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	0.998	G	G	33015502	C	G	33015502	3	3	58	1	0	0	0	0	1	0	0	0	455	913	32	1	1653	1	AKAP6	14	33015502	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1656552	33015502	74334038	917	8667										
RALGAPA1	253959	genome.wustl.edu	37	chr14	36125063	36125063	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttccttaatttgaggatgatGagactcatggactagttctt	9	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:36125063G>A	ENST00000389698.3	-	28	4318	c.3928C>T	c.(3928-3930)Cat>Tat	p.H1310Y	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.H1310Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.H1357Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.H1323Y	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1310					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H1310Y(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAGGATGATGAGACTCATGG	0.333																																																	2	Substitution - Missense(2)	cervix(2)											115	116	115					14																	36125063		2203	4296	6499	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3928C>T	14.37:g.36125063G>A	ENSP00000374348:p.His1310Tyr		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.H1357Y	ENST00000389698.3	37	c.4069	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140443	0.56936	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.35	5.35	0.76521	.	0.147752	0.64402	D	0.000008	T	0.58524	0.2128	L	0.29908	0.895	0.45515	D	0.998472	D;B;P;B	0.53619	0.961;0.233;0.89;0.006	P;B;B;B	0.47206	0.541;0.157;0.331;0.008	T	0.57289	-0.7837	10	0.02654	T	1	-14.9087	19.06	0.93085	0.0:0.0:1.0:0.0	.	1357;1323;1310;1310	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	Y	1310;1310;1310;1357;1323;1357	ENSP00000374348:H1310Y;ENSP00000302647:H1310Y;ENSP00000258840:H1357Y;ENSP00000371803:H1323Y;ENSP00000451877:H1357Y	ENSP00000258840:H1357Y	H	-	1	0	RALGAPA1	35194814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.160000	0.71862	2.484000	0.83849	0.650000	0.86243	CAT	RALGAPA1	-	superfamily_ARM-type_fold		0.333	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	G	XM_210022		36125063	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36125063	G	A	36125063	3	1	58	1	0	0	0	0	1	0	0	0	13043	1290	45	1	2387	1	RALGAPA1	14	36125063	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3109561	36125063	71224477	918	8668										
CLEC14A	161198	genome.wustl.edu	37	chr14	38724388	38724388	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acacaagagcggccgtccttCcccagctcgaagcccgtagc	10	17	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:38724388C>T	ENST00000342213.2	-	1	1186	c.840G>A	c.(838-840)ggG>ggA	p.G280G		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	280	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G280G(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGCCGTCCTTCCCCAGCTCGA	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											52	57	55					14																	38724388		2203	4300	6503	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.840G>A	14.37:g.38724388C>T			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G280	ENST00000342213.2	37	c.840	CCDS9667.1	14																																																																																			CLEC14A	-	NULL		0.677	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	C	NM_175060		38724388	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	silent	SNP	0.064	T	T	38724388	C	T	38724388	2	4	58	1	0	0	0	0	0	0	0	1	3504	842	30	1		1	CLEC14A	14	38724388	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2599325	38724388	68625152	919	8669										
MIA2	117153	genome.wustl.edu	37	chr14	39716772	39716772	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagggcttgaattaatagctGaagaaagcaatccaccacta	8	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:39716772G>A	ENST00000280082.3	+	4	1193	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	MIA2_ENST00000556784.1_Missense_Mutation_p.E331K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E332K	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	332					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.E332K(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATTAATAGCTGAAGAAAGCAA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											114	114	114					14																	39716772		2203	4300	6503	SO:0001583	missense	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.994G>A	14.37:g.39716772G>A	ENSP00000280082:p.Glu332Lys		A1L4H0|Q9H6C1	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E331K	ENST00000280082.3	37	c.991	CCDS9672.1	14	.	.	.	.	.	.	.	.	.	.	G	5.259	0.233297	0.09969	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.48522	0.86;0.81;3.27	5.33	-10.7	0.00240	.	0.737577	0.11652	N	0.542698	T	0.13841	0.0335	N	0.01505	-0.83	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.42849	-0.9427	9	.	.	.	-2.351	12.525	0.56081	0.1314:0.4707:0.3979:0.0	.	332;332	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	K	332;331;332	ENSP00000280082:E332K;ENSP00000451934:E331K;ENSP00000452252:E332K	.	E	+	1	0	MIA2;RP11-407N17.3	38786523	0.000000	0.05858	0.005000	0.12908	0.320000	0.28249	-0.796000	0.04575	-1.285000	0.02387	-0.355000	0.07637	GAA	MIA2	-	NULL		0.378	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIA2	HGNC	protein_coding	OTTHUMT00000276768.3	G	NM_054024		39716772	1	no_errors	ENST00000556784	ensembl	human	known	70_37	missense	SNP	0.000	A	A	39716772	G	A	39716772	3	1	58	1	0	0	0	0	1	0	0	0	9587	1291	45	1	1008	1	MIA2	14	39716772	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	992384	39716772	67632768	920	8670										
LRFN5	145581	genome.wustl.edu	37	chr14	42361085	42361085	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaacactaacaggaacaactCaactgccttgcagttagcta	6	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:42361085C>G	ENST00000298119.4	+	4	3207	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	673						integral component of membrane (GO:0016021)		p.S673*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGAACAACTCAACTGCCTTG	0.453										HNSCC(30;0.082)																																							1	Substitution - Nonsense(1)	cervix(1)											96	81	86					14																	42361085		2203	4300	6503	SO:0001587	stop_gained	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2018C>G	14.37:g.42361085C>G	ENSP00000298119:p.Ser673*		B3KU78|Q86XL2	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S673*	ENST00000298119.4	37	c.2018	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	47	13.550821	0.99749	.	.	ENSG00000165379	ENST00000298119	.	.	.	5.69	5.69	0.88448	.	0.000000	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	.	.	.	X	673	.	ENSP00000298119:S673X	S	+	2	0	LRFN5	41430835	1.000000	0.71417	0.995000	0.50966	0.533000	0.34776	5.478000	0.66806	2.699000	0.92147	0.650000	0.86243	TCA	LRFN5	-	NULL		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	C	NM_152447		42361085	1	no_errors	ENST00000298119	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	42361085	C	G	42361085	4	3	58	1	0	0	0	0	0	1	0	0	8964	838	29	1	2024	1	LRFN5	14	42361085	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2644313	42361085	64988455	921	8671										
PRPF39	55015	genome.wustl.edu	37	chr14	45564749	45564749	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggctgggtatatttgcttCaatatgtagaacaggaggtt	12	5	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:45564749C>T	ENST00000355765.6	+	2	477	c.307C>T	c.(307-309)Caa>Taa	p.Q103*		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Q103*(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATTTGCTTCAATATGTAGA	0.313																																																	1	Substitution - Nonsense(1)	cervix(1)											15	15	15					14																	45564749		1814	4066	5880	SO:0001587	stop_gained	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.307C>T	14.37:g.45564749C>T	ENSP00000348010:p.Gln103*		Q08AL1|Q08AL2|Q9NUU5	Nonsense_Mutation	SNP	smart_HAT	p.Q103*	ENST00000355765.6	37	c.307	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937656	0.73557	.	.	ENSG00000185246	ENST00000355765	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-18.0729	19.7885	0.96447	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000348010:Q103X	Q	+	1	0	PRPF39	44634499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.130000	0.77235	2.779000	0.95612	0.591000	0.81541	CAA	PRPF39	-	NULL		0.313	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	C			45564749	1	no_errors	ENST00000355765	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	45564749	C	T	45564749	4	4	58	1	0	0	0	0	0	1	0	0	12596	827	29	1	309	1	PRPF39	14	45564749	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3203664	45564749	61784791	922	8672										
MGAT2	4247	genome.wustl.edu	37	chr14	50088567	50088567	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtttccaggtagtgaccctaGagattgtcccagagacctgc	11	11	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:50088567G>C	ENST00000305386.2	+	1	1079	c.581G>C	c.(580-582)aGa>aCa	p.R194T	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	194					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)	p.R194T(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGTGACCCTAGAGATTGTCCC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											99	101	101					14																	50088567		2203	4300	6503	SO:0001583	missense	4247			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.581G>C	14.37:g.50088567G>C	ENSP00000307423:p.Arg194Thr		B3KPC5|B3KQM0	Missense_Mutation	SNP	pfam_GlcNAc_II	p.R194T	ENST00000305386.2	37	c.581	CCDS9690.1	14	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903745	0.52333	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88586	-2.4	6.0	3.96	0.45880	.	0.207947	0.48767	D	0.000170	T	0.81777	0.4894	L	0.34521	1.04	0.29651	N	0.843983	B	0.19200	0.034	B	0.29440	0.102	T	0.70421	-0.4876	10	0.17369	T	0.5	-11.0884	8.9809	0.35964	0.2714:0.0:0.7286:0.0	.	194	Q10469	MGAT2_HUMAN	T	194;200	ENSP00000307423:R194T	ENSP00000307423:R194T	R	+	2	0	MGAT2	49158317	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.801000	0.47908	1.557000	0.49525	0.555000	0.69702	AGA	MGAT2	-	pfam_GlcNAc_II		0.498	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	HGNC	protein_coding	OTTHUMT00000276807.1	G	NM_002408		50088567	1	no_errors	ENST00000305386	ensembl	human	known	70_37	missense	SNP	0.999	C	C	50088567	G	C	50088567	3	2	58	1	0	0	0	0	1	0	0	0	9566	942	33	1	583	1	MGAT2	14	50088567	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4523818	50088567	57260973	923	8673										
NIN	51199	genome.wustl.edu	37	chr14	51192747	51192747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctgttcaacttctatcattCgttcctccatgacagttacc	4	13	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:51192747C>T	ENST00000382041.3	-	30	6306	c.6116G>A	c.(6115-6117)cGa>cAa	p.R2039Q	NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000245441.5_Missense_Mutation_p.R2039Q|NIN_ENST00000530997.2_Missense_Mutation_p.R2039Q|NIN_ENST00000382043.4_Missense_Mutation_p.R1326Q|NIN_ENST00000324330.9_3'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2039					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R2039Q(2)|p.R2045Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTATCATTCGTTCCTCCAT	0.393			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - Missense(3)	cervix(3)											180	158	166					14																	51192747		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6116G>A	14.37:g.51192747C>T	ENSP00000371472:p.Arg2039Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.R2039Q	ENST00000382041.3	37	c.6116	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.238902	0.95240	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	T;T;T	0.52295	1.31;0.67;1.19	5.93	5.93	0.95920	.	0.348191	0.25717	N	0.028777	T	0.66858	0.2832	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.60929	-0.7165	10	0.36615	T	0.2	-11.1353	19.3249	0.94258	0.0:1.0:0.0:0.0	.	2045;2039;1326;2039	Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.;NIN_HUMAN;.;.	Q	2039;2022;1326;2045;2039	ENSP00000245441:R2039Q;ENSP00000371474:R1326Q;ENSP00000371472:R2039Q	ENSP00000245441:R2039Q	R	-	2	0	NIN	50262497	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.174000	0.77620	2.805000	0.96524	0.655000	0.94253	CGA	NIN	-	NULL		0.393	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51192747	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51192747	C	T	51192747	3	4	58	1	0	0	0	0	1	0	0	0	10441	884	31	1	374	1	NIN	14	51192747	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1104180	51192747	56156793	924	8674										
PYGL	5836	genome.wustl.edu	37	chr14	51404508	51404508	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgaggttgatcatggtgttCtgtaatgttcggcccatgta	12	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:51404508C>T	ENST00000216392.7	-	2	623	c.291G>A	c.(289-291)caG>caA	p.Q97Q	PYGL_ENST00000544180.2_Intron|PYGL_ENST00000532462.1_Silent_p.Q97Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	97					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.Q97Q(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TCATGGTGTTCTGTAATGTTC	0.398																																																	1	Substitution - coding silent(1)	cervix(1)											173	158	163					14																	51404508		2203	4300	6503	SO:0001819	synonymous_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.291G>A	14.37:g.51404508C>T			A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.Q97	ENST00000216392.7	37	c.291	CCDS32080.1	14																																																																																			PYGL	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.398	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3	C	NM_002863		51404508	-1	no_errors	ENST00000216392	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51404508	C	T	51404508	2	4	58	1	0	0	0	0	0	0	0	1	12891	912	32	1		1	PYGL	14	51404508	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	211761	51404508	55945032	925	8675										
TXNDC16	57544	genome.wustl.edu	37	chr14	52986004	52986004	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atatttcacttcactaaaaaGaagagcactgaaataaatac	4	7	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:52986004G>C	ENST00000281741.4	-	7	771	c.400C>G	c.(400-402)Ctt>Gtt	p.L134V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	134					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.L134V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TCACTAAAAAGAAGAGCACTG	0.294																																																	1	Substitution - Missense(1)	cervix(1)											53	57	55					14																	52986004		2200	4289	6489	SO:0001583	missense	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.400C>G	14.37:g.52986004G>C	ENSP00000281741:p.Leu134Val		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L134V	ENST00000281741.4	37	c.400	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972019	0.74246	.	.	ENSG00000087301	ENST00000281741	T	0.48522	0.81	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	M	0.72894	2.215	0.51482	D	0.99992	D	0.89917	1.0	D	0.74348	0.983	T	0.70757	-0.4785	10	0.72032	D	0.01	-38.0559	17.0775	0.86590	0.0:0.0:1.0:0.0	.	134	Q9P2K2	TXD16_HUMAN	V	134	ENSP00000281741:L134V	ENSP00000281741:L134V	L	-	1	0	TXNDC16	52055754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.779000	0.62375	2.630000	0.89119	0.655000	0.94253	CTT	TXNDC16	-	NULL		0.294	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	G	XM_051699		52986004	-1	no_errors	ENST00000281741	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52986004	G	C	52986004	3	2	58	1	0	0	0	0	1	0	0	0	16826	942	33	1	2137	1	TXNDC16	14	52986004	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1581496	52986004	54363536	926	8676										
CNIH	10175	genome.wustl.edu	37	chr14	54903140	54903140	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttgtaatcagtcttcagctCatcaaatgctataatctaaa	4	9	6	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:54903140C>T	ENST00000216416.4	-	2	200	c.97G>A	c.(97-99)Gag>Aag	p.E33K	CNIH1_ENST00000553660.1_Intron|CNIH1_ENST00000556113.1_Missense_Mutation_p.E33K|CNIH1_ENST00000395573.4_Missense_Mutation_p.E33K|CNIH1_ENST00000557690.1_Missense_Mutation_p.E33K	NM_005776.2	NP_005767.1	O95406	CNIH1_HUMAN	cornichon family AMPA receptor auxiliary protein 1	33					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E33K(1)									GTCTTCAGCTCATCAAATGCT	0.294																																																	1	Substitution - Missense(1)	cervix(1)											40	42	42					14																	54903140		2203	4288	6491	SO:0001583	missense	10175			AF031379	CCDS9717.1	14q22.1	2013-08-28	2013-08-28	2013-08-28	ENSG00000100528	ENSG00000100528			19431	protein-coding gene	gene with protein product		611287	"cornichon homolog (Drosophila)"	CNIH		10209299	Standard	NM_005776		Approved	TGAM77, CNIL	uc001xat.1	O95406	OTTHUMG00000152335	ENST00000216416.4:c.97G>A	14.37:g.54903140C>T	ENSP00000216416:p.Glu33Lys		Q3SYM7	Missense_Mutation	SNP	pfam_Cornichon	p.E33K	ENST00000216416.4	37	c.97	CCDS9717.1	14	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042213	0.75732	.	.	ENSG00000100528	ENST00000395573;ENST00000216416;ENST00000557690;ENST00000556113	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.84219	2.685	0.80722	D	1	P;P	0.45902	0.633;0.868	P;P	0.54544	0.507;0.755	T	0.72447	-0.4291	10	0.72032	D	0.01	-6.7671	19.661	0.95871	0.0:1.0:0.0:0.0	.	33;33	A8MVW4;O95406	.;CNIH_HUMAN	K	33	ENSP00000378940:E33K;ENSP00000216416:E33K;ENSP00000451852:E33K;ENSP00000451142:E33K	ENSP00000216416:E33K	E	-	1	0	CNIH	53972890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.486000	0.81215	2.645000	0.89757	0.655000	0.94253	GAG	CNIH	-	pfam_Cornichon		0.294	CNIH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH	HGNC	protein_coding	OTTHUMT00000276896.2	C	NM_005776		54903140	-1	no_errors	ENST00000216416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54903140	C	T	54903140	3	4	58	1	0	0	0	0	1	0	0	0	3607	835	29	1	353	1	CNIH	14	54903140	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1917136	54903140	52446400	927	8677										
SAMD4A	23034	genome.wustl.edu	37	chr14	55168941	55168941	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgaacacaaccagcacattGaggagagcaggcagctgctg	12	10	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:55168941G>C	ENST00000554335.1	+	3	1021	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	SAMD4A_ENST00000392067.3_Missense_Mutation_p.E120Q|SAMD4A_ENST00000357634.3_Missense_Mutation_p.E119Q|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Missense_Mutation_p.E120Q			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	120					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.E119Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCAGCACATTGAGGAGAGCAG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											89	88	88					14																	55168941		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.358G>C	14.37:g.55168941G>C	ENSP00000452535:p.Glu120Gln		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E120Q	ENST00000554335.1	37	c.358	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984223	0.93044	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.73897	-0.79;-0.79;-0.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.79258	2.445	0.40193	D	0.977422	D;D;D	0.89917	1.0;0.996;0.999	D;P;D	0.85130	0.997;0.899;0.994	D	0.87527	0.2450	10	0.72032	D	0.01	-14.6863	20.8794	0.99867	0.0:0.0:1.0:0.0	.	19;120;120	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Q	120;120;120;119;119	ENSP00000452535:E120Q;ENSP00000375919:E120Q;ENSP00000350261:E119Q	ENSP00000306381:E120Q	E	+	1	0	SAMD4A	54238691	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	SAMD4A	-	NULL		0.493	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	G	NM_015589		55168941	1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55168941	G	C	55168941	3	2	58	1	0	0	0	0	1	0	0	0	13851	1291	45	1	361	1	SAMD4A	14	55168941	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	265801	55168941	52180599	928	8678										
C14orf105	55195	genome.wustl.edu	37	chr14	57938127	57938127	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attctctctgtcctggtcctCaccagtgctcgtggcttctt	8	14	4	0	rs371332687		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:57938127C>T	ENST00000216445.3	-	6	973	c.837G>A	c.(835-837)gtG>gtA	p.V279V	C14orf105_ENST00000422976.2_Silent_p.V319V|C14orf105_ENST00000534126.1_Silent_p.V278V	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	279								p.V279V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCTGGTCCTCACCAGTGCTC	0.458																																																	1	Substitution - coding silent(1)	cervix(1)						C		4,4402	8.1+/-20.4	0,4,2199	119	107	111		837	5.1	1	14		111	0,8600		0,0,4300	no	coding-synonymous	C14orf105	NM_018168.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		279/297	57938127	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55195			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.837G>A	14.37:g.57938127C>T			Q53G04	Silent	SNP	NULL	p.V279	ENST00000216445.3	37	c.837	CCDS9730.1	14																																																																																			C14orf105	-	NULL		0.458	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf105	HGNC	protein_coding	OTTHUMT00000276921.2	C	NM_018168		57938127	-1	no_errors	ENST00000216445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57938127	C	T	57938127	2	4	58	1	0	0	0	0	0	0	0	1	1741	813	29	1		1	C14orf105	14	57938127	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2769186	57938127	49411413	929	8679										
ARID4A	5926	genome.wustl.edu	37	chr14	58832749	58832749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttattatttataggacaaagCagtgatagtgaagatcttcc	8	5	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:58832749C>T	ENST00000355431.3	+	22	3697	c.3324C>T	c.(3322-3324)agC>agT	p.S1108S	ARID4A_ENST00000395168.3_Silent_p.S1108S|ARID4A_ENST00000431317.2_Intron|ARID4A_ENST00000348476.3_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1108					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1108S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAGGACAAAGCAGTGATAGTG	0.323																																																	2	Substitution - coding silent(2)	cervix(2)											106	117	113					14																	58832749		2202	4300	6502	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3324C>T	14.37:g.58832749C>T			Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.S1108	ENST00000355431.3	37	c.3324	CCDS9732.1	14																																																																																			ARID4A	-	NULL		0.323	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	C	NM_023001		58832749	1	no_errors	ENST00000355431	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58832749	C	T	58832749	2	4	58	1	0	0	0	0	0	0	0	1	919	709	25	4		4	ARID4A	14	58832749	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	894622	58832749	48516791	930	8680										
DAAM1	23002	genome.wustl.edu	37	chr14	59782054	59782054	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaattctacattgatcagctCaattccatggctgctgtaag	8	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:59782054C>G	ENST00000395125.1	+	3	353	c.330C>G	c.(328-330)ctC>ctG	p.L110L	DAAM1_ENST00000351081.1_Silent_p.L110L|DAAM1_ENST00000360909.3_Silent_p.L110L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	110	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.L110L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGATCAGCTCAATTCCATGG	0.383																																																	1	Substitution - coding silent(1)	cervix(1)											226	194	205					14																	59782054		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.330C>G	14.37:g.59782054C>G			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.L110	ENST00000395125.1	37	c.330	CCDS9737.1	14																																																																																			DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	C	NM_014992		59782054	1	no_errors	ENST00000351081	ensembl	human	known	70_37	silent	SNP	0.494	G	G	59782054	C	G	59782054	2	3	58	1	0	0	0	0	0	0	0	1	4220	813	29	1		1	DAAM1	14	59782054	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	949305	59782054	47567486	931	8681										
DAAM1	23002	genome.wustl.edu	37	chr14	59821958	59821958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaggtggttttggcatttgGaaattatatgaataaaggtc	13	2	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:59821958G>A	ENST00000395125.1	+	20	2485	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	DAAM1_ENST00000351081.1_Missense_Mutation_p.G821E|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.G811E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	821	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.G821E(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGGCATTTGGAAATTATATG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											171	160	164					14																	59821958		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2462G>A	14.37:g.59821958G>A	ENSP00000378557:p.Gly821Glu		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.G821E	ENST00000395125.1	37	c.2462	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.320574	0.95682	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.92446	-3.04;-3.04;-3.04	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.093143	0.85682	D	0.000000	D	0.97766	0.9267	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	811;821	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	811;821;790;821	ENSP00000354162:G811E;ENSP00000247170:G821E;ENSP00000378557:G821E	ENSP00000247170:G821E	G	+	2	0	DAAM1	58891711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.906000	0.99361	0.655000	0.94253	GGA	DAAM1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.388	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59821958	1	no_errors	ENST00000351081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59821958	G	A	59821958	3	1	58	1	0	0	0	0	1	0	0	0	4220	1174	41	1	2540	1	DAAM1	14	59821958	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	39904	59821958	47527582	932	8682										
SYNE2	23224	genome.wustl.edu	37	chr14	64518990	64518990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtctgtggaatcgttggctGaagaggtcaaagataaggtt	14	4	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64518990G>A	ENST00000344113.4	+	48	8571	c.8359G>A	c.(8359-8361)Gaa>Aaa	p.E2787K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E2820K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E2787K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2787					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E2787K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCGTTGGCTGAAGAGGTCAA	0.433																																																	1	Substitution - Missense(1)	cervix(1)											131	123	126					14																	64518990		1951	4146	6097	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8359G>A	14.37:g.64518990G>A	ENSP00000341781:p.Glu2787Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2787K	ENST00000344113.4	37	c.8359	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898362	0.17686	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35789	1.29;1.29;1.29	5.27	3.46	0.39613	.	0.493114	0.18555	N	0.137808	T	0.18593	0.0446	N	0.17082	0.46	0.21897	N	0.99949	B;B	0.14438	0.006;0.01	B;B	0.14023	0.004;0.01	T	0.21930	-1.0231	10	0.18710	T	0.47	.	5.2098	0.15310	0.2318:0.0:0.6237:0.1446	.	2787;2787	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2787;2787;2820;2820	ENSP00000350719:E2787K;ENSP00000341781:E2787K;ENSP00000452570:E2820K	ENSP00000261678:E2820K	E	+	1	0	SYNE2	63588743	0.027000	0.19231	0.283000	0.24790	0.983000	0.72400	0.192000	0.17096	0.634000	0.30469	0.313000	0.20887	GAA	SYNE2	-	smart_Spectrin/alpha-actinin		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64518990	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.079	A	A	64518990	G	A	64518990	3	1	58	1	0	0	0	0	1	0	0	0	15476	1291	45	1	8545	1	SYNE2	14	64518990	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4697032	64518990	42830550	933	8683										
SYNE2	23224	genome.wustl.edu	37	chr14	64519002	64519002	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgttggctgaagaggtcaaaGataaggttcctagccttaca	11	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64519002G>T	ENST00000344113.4	+	48	8583	c.8371G>T	c.(8371-8373)Gat>Tat	p.D2791Y	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2824Y|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2791Y|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2791					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.D2791Y(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGGTCAAAGATAAGGTTCC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											121	113	115					14																	64519002		1933	4134	6067	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8371G>T	14.37:g.64519002G>T	ENSP00000341781:p.Asp2791Tyr		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D2791Y	ENST00000344113.4	37	c.8371	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374343	0.24857	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35605	1.3;1.3;1.3	5.27	3.45	0.39498	.	0.934652	0.08884	N	0.879540	T	0.23532	0.0569	N	0.19112	0.55	0.18873	N	0.999989	P;P	0.39624	0.553;0.681	B;B	0.36289	0.11;0.221	T	0.14309	-1.0477	10	0.66056	D	0.02	.	6.571	0.22539	0.1689:0.191:0.6401:0.0	.	2791;2791	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Y	2791;2791;2824;2824	ENSP00000350719:D2791Y;ENSP00000341781:D2791Y;ENSP00000452570:D2824Y	ENSP00000261678:D2824Y	D	+	1	0	SYNE2	63588755	0.076000	0.21285	0.037000	0.18230	0.966000	0.64601	1.387000	0.34430	0.619000	0.30197	0.313000	0.20887	GAT	SYNE2	-	smart_Spectrin/alpha-actinin		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64519002	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.001	T	T	64519002	G	T	64519002	3	4	58	1	0	0	0	0	1	0	0	0	15476	942	33	3	8557	3	SYNE2	14	64519002	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	12	64519002	42830538	934	8684										
SYNE2	23224	genome.wustl.edu	37	chr14	64564841	64564841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagaggaaggtggagtggcaGagagggatgcttctgagcgg	20	5	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64564841G>C	ENST00000344113.4	+	62	12495	c.12283G>C	c.(12283-12285)Gag>Cag	p.E4095Q	MIR548H1_ENST00000408610.1_RNA|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4128Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E480Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E729Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4095Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E480Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4095					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E4095Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGTGGCAGAGAGGGATGC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											136	147	143					14																	64564841		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12283G>C	14.37:g.64564841G>C	ENSP00000341781:p.Glu4095Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4095Q	ENST00000344113.4	37	c.12283	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101293	0.37048	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.58358	0.78;4.08;0.78;0.34;4.13;4.08	5.78	4.89	0.63831	.	0.231769	0.31123	N	0.008209	T	0.41166	0.1147	L	0.29908	0.895	0.30306	N	0.788971	B;P;B;B	0.44877	0.435;0.845;0.261;0.378	B;B;B;B	0.41860	0.264;0.368;0.101;0.204	T	0.44636	-0.9315	10	0.40728	T	0.16	.	10.5438	0.45047	0.0889:0.0:0.9111:0.0	.	480;4129;4095;4095	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	4095;480;4095;4128;4128;729;480	ENSP00000350719:E4095Q;ENSP00000349969:E480Q;ENSP00000341781:E4095Q;ENSP00000452570:E4128Q;ENSP00000450831:E729Q;ENSP00000378249:E480Q	ENSP00000261678:E4128Q	E	+	1	0	SYNE2	63634594	0.982000	0.34865	0.064000	0.19789	0.002000	0.02628	3.839000	0.55835	1.451000	0.47736	0.585000	0.79938	GAG	SYNE2	-	NULL		0.498	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64564841	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.100	C	C	64564841	G	C	64564841	3	2	58	1	0	0	0	0	1	0	0	0	15476	943	33	1	12525	1	SYNE2	14	64564841	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	45839	64564841	42784699	935	8685										
SYNE2	23224	genome.wustl.edu	37	chr14	64565537	64565537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagaaagttccgtgaagagcGatgtaagggaaatgattttc	12	4	0	4	rs145874555		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64565537G>A	ENST00000344113.4	+	63	12591	c.12379G>A	c.(12379-12381)Gat>Aat	p.D4127N	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.D4160N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D512N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D761N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D4127N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D512N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4127					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.D4127N(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGTGAAGAGCGATGTAAGGGA	0.398																																																	1	Substitution - Missense(1)	cervix(1)						G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	128	133	132		12379,12379	4.6	1	14	dbSNP_134	132	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	23,23	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	4127/6886,4127/6908	64565537	4,13002	2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12379G>A	14.37:g.64565537G>A	ENSP00000341781:p.Asp4127Asn		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D4127N	ENST00000344113.4	37	c.12379	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610079	0.14066	2.27E-4	3.49E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.56444	0.83;4.13;0.83;0.46;4.18;4.13	5.52	4.63	0.57726	.	0.269718	0.29417	N	0.012209	T	0.31295	0.0792	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12013	0.002;0.005;0.005;0.003	B;B;B;B	0.08055	0.002;0.001;0.003;0.001	T	0.09100	-1.0690	10	0.37606	T	0.19	.	10.8372	0.46694	0.0882:0.0:0.9118:0.0	.	512;4161;4127;4127	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	4127;512;4127;4160;4160;761;512;19	ENSP00000350719:D4127N;ENSP00000349969:D512N;ENSP00000341781:D4127N;ENSP00000452570:D4160N;ENSP00000450831:D761N;ENSP00000378249:D512N	ENSP00000261678:D4160N	D	+	1	0	SYNE2	63635290	0.994000	0.37717	0.996000	0.52242	0.016000	0.09150	1.851000	0.39338	1.478000	0.48253	-0.137000	0.14449	GAT	SYNE2	-	NULL		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64565537	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64565537	G	A	64565537	3	1	58	1	0	0	0	0	1	0	0	0	15476	1058	37	1	12625	1	SYNE2	14	64565537	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	696	64565537	42784003	936	8686										
SYNE2	23224	genome.wustl.edu	37	chr14	64608744	64608744	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggagcatcaaacttcagatGaagactccgtgcattcacca	8	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64608744G>A	ENST00000344113.4	+	82	15456	c.15244G>A	c.(15244-15246)Gaa>Aaa	p.E5082K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4999K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1467K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1716K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5082K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1467K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5082					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E5082K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTTCAGATGAAGACTCCGT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											92	85	87					14																	64608744		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15244G>A	14.37:g.64608744G>A	ENSP00000341781:p.Glu5082Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5082K	ENST00000344113.4	37	c.15244	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301291	0.23650	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.81	4.92	0.64577	.	0.114349	0.37955	N	0.001863	T	0.40094	0.1103	L	0.52905	1.665	0.80722	D	1	B;B;B;B	0.19583	0.016;0.037;0.009;0.013	B;B;B;B	0.19666	0.026;0.016;0.022;0.024	T	0.21724	-1.0237	10	0.20519	T	0.43	.	9.0104	0.36137	0.2193:0.0:0.7807:0.0	.	1467;4999;5082;5082	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	5082;1467;5082;4999;5005;1716;1467	ENSP00000350719:E5082K;ENSP00000349969:E1467K;ENSP00000341781:E5082K;ENSP00000452570:E4999K;ENSP00000450831:E1716K;ENSP00000378249:E1467K	ENSP00000261678:E5005K	E	+	1	0	SYNE2	63678497	1.000000	0.71417	0.111000	0.21465	0.047000	0.14425	4.395000	0.59678	1.453000	0.47775	0.563000	0.77884	GAA	SYNE2	-	smart_Spectrin/alpha-actinin		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64608744	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.934	A	A	64608744	G	A	64608744	3	1	58	1	0	0	0	0	1	0	0	0	15476	1291	45	1	15566	1	SYNE2	14	64608744	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	43207	64608744	42740796	937	8687										
MPP5	64398	genome.wustl.edu	37	chr14	67799667	67799667	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgggtaccatccacttggctGaggtgaaagaaacatccatt	10	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:67799667G>A	ENST00000261681.4	+	15	2683	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	MPP5_ENST00000555925.1_Silent_p.L640L|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	674					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.L674L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCACTTGGCTGAGGTGAAAGA	0.438																																																	1	Substitution - coding silent(1)	cervix(1)											67	61	63					14																	67799667		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.2022G>A	14.37:g.67799667G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.L674	ENST00000261681.4	37	c.2022	CCDS9779.1	14																																																																																			MPP5	-	NULL		0.438	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67799667	1	no_errors	ENST00000261681	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67799667	G	A	67799667	2	1	58	1	0	0	0	0	0	0	0	1	9760	1277	45	1		1	MPP5	14	67799667	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3190923	67799667	39549873	938	8688										
EIF2S1	1965	genome.wustl.edu	37	chr14	67850119	67850119	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgccgaagtggatggagatGatgatgcagaagaaatggaa	15	3	0	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:67850119G>C	ENST00000256383.4	+	8	1371	c.910G>C	c.(910-912)Gat>Cat	p.D304H	EIF2S1_ENST00000466499.2_Missense_Mutation_p.D304H	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	304					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.D304H(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GGATGGAGATGATGATGCAGA	0.463																																																	1	Substitution - Missense(1)	cervix(1)											98	86	90					14																	67850119		2203	4300	6503	SO:0001583	missense	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.910G>C	14.37:g.67850119G>C	ENSP00000256383:p.Asp304His			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D304H	ENST00000256383.4	37	c.910	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703003	0.68501	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.16	5.28	0.74379	Translation initiation factor 2, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.80508	2.5	0.80722	D	1	B	0.32693	0.38	B	0.34991	0.193	T	0.71024	-0.4712	9	0.72032	D	0.01	-22.7769	15.5347	0.75993	0.0656:0.0:0.9344:0.0	.	304	P05198	IF2A_HUMAN	H	304	.	ENSP00000256383:D304H	D	+	1	0	EIF2S1	66919872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.631000	0.50456	0.650000	0.86243	GAT	EIF2S1	-	NULL		0.463	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	G	NM_004094		67850119	1	no_errors	ENST00000256383	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67850119	G	C	67850119	3	2	58	1	0	0	0	0	1	0	0	0	5019	1290	45	1	936	1	EIF2S1	14	67850119	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	50452	67850119	39499421	939	8689										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68257344	68257344	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagcggccactgccagttctCcgaatggtgctgctacccgc	12	15	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:68257344C>A	ENST00000347230.4	-	15	2838	c.2700G>T	c.(2698-2700)cgG>cgT	p.R900R	ZFYVE26_ENST00000555452.1_Silent_p.R900R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	900					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R900R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCCAGTTCTCCGAATGGTGC	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											128	103	111					14																	68257344		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2700G>T	14.37:g.68257344C>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R900	ENST00000347230.4	37	c.2700	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.552	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68257344	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.541	A	A	68257344	C	A	68257344	2	1	58	1	0	0	0	0	0	0	0	1	17698	842	30	3		3	ZFYVE26	14	68257344	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	407225	68257344	39092196	940	8690										
C14orf181	677	genome.wustl.edu	37	chr14	69262694	69262694	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccctacggtgcaggaaggcCgaggcgaggcgtgcgtggcc	19	12	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:69262694C>G	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Silent_p.S106S|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S106S(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCAGGAAGGCCGAGGCGAGGC	0.766																																																	1	Substitution - coding silent(1)	cervix(1)											9	12	11					14																	69262694		2055	3948	6003	SO:0001631	upstream_gene_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262694C>G	Exception_encountered		Q13851	Silent	SNP	NULL	p.S106	ENST00000439696.2	37	c.318	CCDS9791.1	14																																																																																			ZFP36L1	-	NULL		0.766	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	C			69262694	-1	no_errors	ENST00000408913	ensembl	human	known	70_37	silent	SNP	0.000	G	G	69262694	C	G	69262694	1	3	58	0	1	0	0	0	0	0	0	0	1768	639	23	2		2	C14orf181	14	69262694	5'Flank	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1005350	69262694	38086846	941	8691										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72055659	72055659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacaatgttattaagaggaGaaacaccaccactggagctt	9	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:72055659G>C	ENST00000555818.1	+	2	1418	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R357T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R357T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	357					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R357T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATTAAGAGGAGAAACACCACC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											65	68	67					14																	72055659		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1070G>C	14.37:g.72055659G>C	ENSP00000450832:p.Arg357Thr		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.R357T	ENST00000555818.1	37	c.1070	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568871	0.28003	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.81659	-1.51;-1.51;-1.52	6.07	6.07	0.98685	.	0.043798	0.85682	D	0.000000	T	0.78679	0.4321	L	0.52011	1.625	0.80722	D	1	P;B;B	0.40144	0.704;0.336;0.118	B;B;B	0.41723	0.365;0.333;0.073	T	0.80446	-0.1379	10	0.87932	D	0	-28.3999	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	357;357;357	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	T	357	ENSP00000370630:R357T;ENSP00000450832:R357T;ENSP00000351352:R357T	ENSP00000351352:R357T	R	+	2	0	SIPA1L1	71125412	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	5.291000	0.65667	2.885000	0.99019	0.655000	0.94253	AGA	SIPA1L1	-	NULL		0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72055659	1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72055659	G	C	72055659	3	2	58	1	0	0	0	0	1	0	0	0	14359	942	33	1	1072	1	SIPA1L1	14	72055659	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2792965	72055659	35293881	942	8692										
DPF3	8110	genome.wustl.edu	37	chr14	73190406	73190406	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcctcttcttcattcccttCttctacattttcatcatttt	0	13	7	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:73190406C>T	ENST00000556509.1	-	5	459	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DPF3_ENST00000546183.1_Missense_Mutation_p.E164K|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.E154K	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	154					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.E154K(2)|p.E153K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCATTCCCTTCTTCTACATTT	0.388																																																	3	Substitution - Missense(3)	cervix(3)											212	209	209					14																	73190406		1847	4097	5944	SO:0001583	missense	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.460G>A	14.37:g.73190406C>T	ENSP00000450518:p.Glu154Lys		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E209K	ENST00000556509.1	37	c.625		14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951609	0.73787	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90676	-2.71;-0.13;-0.15	5.07	5.07	0.68467	.	.	.	.	.	D	0.86851	0.6032	L	0.34521	1.04	0.49915	D	0.999834	P;P;B	0.38370	0.628;0.597;0.231	B;B;B	0.37144	0.236;0.242;0.055	D	0.87524	0.2448	9	0.51188	T	0.08	.	18.4822	0.90817	0.0:1.0:0.0:0.0	.	164;154;154	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	K	154;154;153;154;164	ENSP00000450518:E154K;ENSP00000441640:E154K;ENSP00000444662:E164K	ENSP00000381791:E209K	E	-	1	0	DPF3	72260159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.652000	0.67959	2.364000	0.80123	0.561000	0.74099	GAA	DPF3	-	NULL		0.388	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	C			73190406	-1	no_errors	ENST00000366353	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73190406	C	T	73190406	3	4	58	1	0	0	0	0	1	0	0	0	4728	922	32	1	633	1	DPF3	14	73190406	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1134747	73190406	34159134	943	8693										
ABCD4	5826	genome.wustl.edu	37	chr14	74756735	74756735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgaactagactgacctgctCccgaagggtcccgtcagtga	11	13	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:74756735C>T	ENST00000356924.4	-	13	1557	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	ABCD4_ENST00000557554.1_5'Flank|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.E368K	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	472	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E472K(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTGACCTGCTCCCGAAGGGTC	0.602											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											93	94	93					14																	74756735		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1414G>A	14.37:g.74756735C>T	ENSP00000349396:p.Glu472Lys	1155	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E472K	ENST00000356924.4	37	c.1414	CCDS9828.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.711410	0.96821	.	.	ENSG00000119688	ENST00000356924;ENST00000298816	D;D	0.99881	-3.6;-7.47	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.77486	2.375	0.80722	D	1	B;P;P	0.35575	0.433;0.51;0.51	B;B;P	0.51516	0.156;0.446;0.672	D	0.95774	0.8811	10	0.66056	D	0.02	.	19.9559	0.97218	0.0:1.0:0.0:0.0	.	368;472;472	F8W7M4;A8K5L7;O14678	.;.;ABCD4_HUMAN	K	472;368	ENSP00000349396:E472K;ENSP00000298816:E368K	ENSP00000298816:E368K	E	-	1	0	ABCD4	73826488	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.656000	0.83736	2.728000	0.93425	0.462000	0.41574	GAG	ABCD4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	C	NM_005050		74756735	-1	no_errors	ENST00000356924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74756735	C	T	74756735	3	4	58	1	0	0	0	0	1	0	0	0	63	864	30	1	434	1	ABCD4	14	74756735	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1566329	74756735	32592805	944	8694										
YLPM1	56252	genome.wustl.edu	37	chr14	75264371	75264371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttttgaaggaaatcgccccGatgggccaagacccagatat	11	10	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:75264371G>A	ENST00000325680.7	+	5	2495	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D596N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	596					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D596N(2)|p.D791N(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AAATCGCCCCGATGGGCCAAG	0.498																																																	3	Substitution - Missense(3)	cervix(2)|large_intestine(1)											30	32	31					14																	75264371		1866	4097	5963	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2371G>A	14.37:g.75264371G>A	ENSP00000324463:p.Asp791Asn		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.D791N	ENST00000325680.7	37	c.2371	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709986	0.68730	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.39	5.39	0.77823	.	0.264525	0.32593	N	0.005897	T	0.66127	0.2758	L	0.44542	1.39	0.43203	D	0.995054	D	0.69078	0.997	P	0.60789	0.879	T	0.60337	-0.7283	9	0.27082	T	0.32	-11.3669	17.7052	0.88306	0.0:0.0:1.0:0.0	.	791	P49750-4	.	N	791;596;504	.	ENSP00000238571:D596N	D	+	1	0	YLPM1	74334124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.338000	0.72963	2.680000	0.91292	0.643000	0.83706	GAT	YLPM1	-	NULL		0.498	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	G	NM_019589		75264371	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75264371	G	A	75264371	3	1	58	1	0	0	0	0	1	0	0	0	17517	1058	37	1	2389	1	YLPM1	14	75264371	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	507636	75264371	32085169	945	8695										
ANGEL1	23357	genome.wustl.edu	37	chr14	77273120	77273120	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tagcacagagcaggcggaatCtggtaggcttgtagcagaca	14	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:77273120C>G	ENST00000251089.2	-	5	1131	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	ANGEL1_ENST00000557179.1_5'Flank|ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	340								p.R340T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGGCGGAATCTGGTAGGCTT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											172	183	180					14																	77273120		2203	4300	6503	SO:0001583	missense	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1019G>C	14.37:g.77273120C>G	ENSP00000251089:p.Arg340Thr		B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R340T	ENST00000251089.2	37	c.1019	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959146	0.74016	.	.	ENSG00000013523	ENST00000251089	T	0.80909	-1.43	5.97	5.97	0.96955	Endonuclease/exonuclease/phosphatase (2);	0.111999	0.64402	D	0.000018	D	0.84206	0.5421	M	0.74647	2.275	0.80722	D	1	P	0.51240	0.943	P	0.52424	0.698	D	0.84949	0.0870	10	0.59425	D	0.04	-2.9891	9.3878	0.38354	0.1447:0.7844:0.0:0.0709	.	340	Q9UNK9	ANGE1_HUMAN	T	340	ENSP00000251089:R340T	ENSP00000251089:R340T	R	-	2	0	ANGEL1	76342873	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.285000	0.51716	2.836000	0.97738	0.655000	0.94253	AGA	ANGEL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.517	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2	C	NM_015305		77273120	-1	no_errors	ENST00000251089	ensembl	human	known	70_37	missense	SNP	0.971	G	G	77273120	C	G	77273120	3	3	58	1	0	0	0	0	1	0	0	0	608	913	32	1	1017	1	ANGEL1	14	77273120	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2008749	77273120	30076420	946	8696										
PTPN21	11099	genome.wustl.edu	37	chr14	88983588	88983588	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttttgcttgttgtagtaccaGaggctgaagtaagtgacctg	12	6	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:88983588G>A	ENST00000556564.1	-	3	482	c.198C>T	c.(196-198)ctC>ctT	p.L66L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L66L|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	66	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.L66L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAGTACCAGAGGCTGAAGT	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											80	82	81					14																	88983588		2203	4300	6503	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.198C>T	14.37:g.88983588G>A				Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.L66	ENST00000556564.1	37	c.198	CCDS9884.1	14																																																																																			PTPN21	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam		0.428	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	G			88983588	-1	no_errors	ENST00000328736	ensembl	human	known	70_37	silent	SNP	1.000	A	A	88983588	G	A	88983588	2	1	58	1	0	0	0	0	0	0	0	1	12816	929	33	1		1	PTPN21	14	88983588	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	11710468	88983588	18365952	947	8697										
C14orf159	80017	genome.wustl.edu	37	chr14	91681877	91681877	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggagatcaggcctggactCaggccctcccgtcggtcatt	12	14	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:91681877C>G	ENST00000523771.1	+	13	2281	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	C14orf159_ENST00000412671.2_Missense_Mutation_p.Q565E|C14orf159_ENST00000256324.10_Missense_Mutation_p.Q565E|C14orf159_ENST00000525393.2_Missense_Mutation_p.Q436E|C14orf159_ENST00000522322.1_Missense_Mutation_p.Q560E|C14orf159_ENST00000520328.1_Missense_Mutation_p.Q508E|C14orf159_ENST00000521077.2_Missense_Mutation_p.Q525E|C14orf159_ENST00000428926.2_Missense_Mutation_p.Q560E|C14orf159_ENST00000518868.1_Missense_Mutation_p.Q565E|C14orf159_ENST00000523816.1_Missense_Mutation_p.Q560E			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	560						mitochondrion (GO:0005739)		p.Q560E(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGCCTGGACTCAGGCCCTCCC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											67	63	65					14																	91681877		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1678C>G	14.37:g.91681877C>G	ENSP00000429655:p.Gln560Glu		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	pfam_DUF1445,pirsf_UPF0317_mt	p.Q565E	ENST00000523771.1	37	c.1693	CCDS32141.1	14	.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070222	0.01918	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.45	3.62	0.41486	.	1.239390	0.05333	N	0.528656	T	0.10165	0.0249	N	0.20401	0.57	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.004;0.004;0.004	B;B;B;B;B	0.12156	0.007;0.004;0.004;0.004;0.004	T	0.34650	-0.9820	10	0.02654	T	1	.	5.882	0.18860	0.0:0.6709:0.1594:0.1696	.	560;436;508;565;525	Q7Z3D6;Q8NB88;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.	E	508;565;525;565;560;436;560;560;560;565	ENSP00000429453:Q508E;ENSP00000256324:Q565E;ENSP00000430137:Q525E;ENSP00000428263:Q565E;ENSP00000428974:Q560E;ENSP00000435459:Q436E;ENSP00000404343:Q560E;ENSP00000427953:Q560E;ENSP00000429655:Q560E;ENSP00000404196:Q565E	ENSP00000256324:Q565E	Q	+	1	0	C14orf159	90751630	0.009000	0.17119	0.029000	0.17559	0.006000	0.05464	0.749000	0.26320	0.662000	0.31006	0.655000	0.94253	CAG	C14orf159	-	pirsf_UPF0317_mt		0.607	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1	C	NM_024952		91681877	1	no_errors	ENST00000256324	ensembl	human	known	70_37	missense	SNP	0.008	G	G	91681877	C	G	91681877	3	3	58	1	0	0	0	0	1	0	0	0	1759	827	29	1	1735	1	C14orf159	14	91681877	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2698289	91681877	15667663	948	8698										
SMEK1	55671	genome.wustl.edu	37	chr14	91931636	91931636	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctattatggcagagttcatCagattgtagcgggatccatt	10	7	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:91931636C>T	ENST00000554943.1	-	11	1903	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	SMEK1_ENST00000428424.2_Silent_p.L357L|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Silent_p.L357L|SMEK1_ENST00000554684.1_Silent_p.L583L|SMEK1_ENST00000337238.4_Silent_p.L583L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	596					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.L596L(1)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CAGAGTTCATCAGATTGTAGC	0.294																																																	1	Substitution - coding silent(1)	cervix(1)											93	96	95					14																	91931636		2203	4300	6503	SO:0001819	synonymous_variant	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1788G>A	14.37:g.91931636C>T			Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Silent	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.L596	ENST00000554943.1	37	c.1788		14																																																																																			SMEK1	-	superfamily_ARM-type_fold		0.294	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91931636	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	silent	SNP	0.999	T	T	91931636	C	T	91931636	2	4	58	1	0	0	0	0	0	0	0	1	14823	813	29	1		1	SMEK1	14	91931636	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	249759	91931636	15417904	949	8699										
CHGA	1113	genome.wustl.edu	37	chr14	93396082	93396082	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgccaaggagagggcacatCagcagaagaaacacagcggt	14	10	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:93396082C>T	ENST00000216492.5	+	5	557	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.Q93*|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	93					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)		p.Q93*(1)		cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GAGGGCACATCAGCAGAAGAA	0.522																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												1	Substitution - Nonsense(1)	cervix(1)											71	72	71					14																	93396082		2203	4300	6503	SO:0001587	stop_gained	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.277C>T	14.37:g.93396082C>T	ENSP00000216492:p.Gln93*		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Nonsense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.Q93*	ENST00000216492.5	37	c.277	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.441224	0.96187	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	.	.	.	4.78	4.78	0.61160	.	0.451567	0.22553	N	0.058562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-8.9971	12.0045	0.53251	0.1726:0.8274:0.0:0.0	.	.	.	.	X	93	.	ENSP00000216492:Q93X	Q	+	1	0	CHGA	92465835	0.996000	0.38824	0.042000	0.18584	0.817000	0.46193	3.365000	0.52335	2.225000	0.72522	0.561000	0.74099	CAG	CHGA	-	pfam_Granin		0.522	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	C	NM_001275		93396082	1	no_errors	ENST00000216492	ensembl	human	known	70_37	nonsense	SNP	0.992	T	T	93396082	C	T	93396082	4	4	58	1	0	0	0	0	0	1	0	0	3343	827	29	1	295	1	CHGA	14	93396082	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1464446	93396082	13953458	950	8700										
KIAA1409	57578	genome.wustl.edu	37	chr14	94038402	94038402	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaacagaagtcccagataatCagttaaaagaattcagggaa	9	6	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:94038402C>T	ENST00000393151.2	+	15	1918	c.1918C>T	c.(1918-1920)Cag>Tag	p.Q640*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q640*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q463*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.Q640*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	640					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q640*(1)|p.Q463*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCAGATAATCAGTTAAAAGA	0.393																																																	2	Substitution - Nonsense(2)	cervix(2)											54	55	55					14																	94038402		2203	4300	6503	SO:0001587	stop_gained	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1918C>T	14.37:g.94038402C>T	ENSP00000376858:p.Gln640*		B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q640*	ENST00000393151.2	37	c.1918		14	.	.	.	.	.	.	.	.	.	.	C	39	7.542971	0.98348	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.73	5.73	0.89815	.	0.069140	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.1726	19.8899	0.96926	0.0:1.0:0.0:0.0	.	.	.	.	X	463;640;640;640;640	.	ENSP00000256339:Q463X	Q	+	1	0	KIAA1409	93108155	1.000000	0.71417	0.954000	0.39281	0.935000	0.57460	7.500000	0.81588	2.711000	0.92665	0.650000	0.86243	CAG	UNC79	-	NULL		0.393	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	C	XM_028395		94038402	1	no_errors	ENST00000553484	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	94038402	C	T	94038402	4	4	58	1	0	0	0	0	0	1	0	0	8250	827	29	1	1433	1	KIAA1409	14	94038402	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	642320	94038402	13311138	951	8701										
ATG2B	55102	genome.wustl.edu	37	chr14	96757971	96757971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagcctcttgagctttagttCagagcagtttaactgagcca	9	9	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:96757971C>T	ENST00000359933.4	-	38	6438	c.5545G>A	c.(5545-5547)Gaa>Aaa	p.E1849K	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1849					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E1849K(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCTTTAGTTCAGAGCAGTTT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											105	111	109					14																	96757971		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5545G>A	14.37:g.96757971C>T	ENSP00000353010:p.Glu1849Lys		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E1849K	ENST00000359933.4	37	c.5545	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	36	5.660417	0.96734	.	.	ENSG00000066739	ENST00000359933	T	0.12984	2.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.00759	-1.1578	10	0.36615	T	0.2	.	18.4502	0.90700	0.0:1.0:0.0:0.0	.	1849	Q96BY7	ATG2B_HUMAN	K	1849	ENSP00000353010:E1849K	ENSP00000261834:E493K	E	-	1	0	ATG2B	95827724	1.000000	0.71417	0.602000	0.28890	0.990000	0.78478	5.436000	0.66538	2.636000	0.89361	0.655000	0.94253	GAA	ATG2B	-	NULL		0.338	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96757971	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96757971	C	T	96757971	3	4	58	1	0	0	0	0	1	0	0	0	1095	835	29	1	711	1	ATG2B	14	96757971	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2719569	96757971	10591569	952	8702										
EVL	51466	genome.wustl.edu	37	chr14	100604120	100604120	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgaagctaagagcccccttCagtcgcagcctcactctagg	9	16	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:100604120C>G	ENST00000402714.2	+	11	1673	c.1069C>G	c.(1069-1071)Cag>Gag	p.Q357E	EVL_ENST00000392920.3_Missense_Mutation_p.Q359E|EVL_ENST00000544450.2_Missense_Mutation_p.Q363E			Q9UI08	EVL_HUMAN	Enah/Vasp-like	357	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.Q359E(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GAGCCCCCTTCAGTCGCAGCC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											109	107	108					14																	100604120		2203	4300	6503	SO:0001583	missense	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.1069C>G	14.37:g.100604120C>G	ENSP00000384720:p.Gln357Glu		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_EVH1	p.Q359E	ENST00000402714.2	37	c.1075		14	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446010	0.25987	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470	T;T;T	0.70986	-0.36;-0.53;-0.36	4.73	4.73	0.59995	.	0.690656	0.13220	N	0.404439	T	0.77082	0.4078	L	0.51422	1.61	0.39293	D	0.964773	P;P;P	0.49447	0.924;0.811;0.713	P;P;P	0.62298	0.9;0.83;0.585	T	0.70368	-0.4891	10	0.02654	T	1	-13.282	17.6886	0.88263	0.0:1.0:0.0:0.0	.	363;359;357	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	E	357;363;359;322	ENSP00000384720:Q357E;ENSP00000437904:Q363E;ENSP00000376652:Q359E	ENSP00000376652:Q359E	Q	+	1	0	EVL	99673873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.182000	0.65059	2.163000	0.67991	0.561000	0.74099	CAG	EVL	-	pirsf_Vasodilator_phosphoprotein		0.612	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	C			100604120	1	no_errors	ENST00000392920	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100604120	C	G	100604120	3	3	58	1	0	0	0	0	1	0	0	0	5303	827	29	1	1117	1	EVL	14	100604120	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3846149	100604120	6745420	953	8703										
BEGAIN	57596	genome.wustl.edu	37	chr14	101005433	101005433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctcccttgtaggggggccGcgggcctggtttctccaccc	14	15	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:101005433G>A	ENST00000355173.2	-	7	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BEGAIN_ENST00000443071.2_Missense_Mutation_p.R219W|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.R155W	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	219						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.R219W(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TAGGGGGGCCGCGGGCCTGGT	0.716																																					NSCLC(159;1889 2010 9965 27479 40101)												1	Substitution - Missense(1)	cervix(1)											16	21	19					14																	101005433		2203	4298	6501	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.655C>T	14.37:g.101005433G>A	ENSP00000347301:p.Arg219Trp		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.R219W	ENST00000355173.2	37	c.655	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379375	0.24944	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	4.27	2.26	0.28386	.	0.280267	0.34362	N	0.004029	T	0.47395	0.1443	M	0.68952	2.095	0.31677	N	0.643586	D	0.64830	0.994	P	0.46049	0.502	T	0.58411	-0.7641	10	0.66056	D	0.02	.	2.4426	0.04498	0.1027:0.134:0.4285:0.3348	.	219	Q9BUH8	BEGIN_HUMAN	W	219;155;219;231;219;155	ENSP00000347301:R219W;ENSP00000451380:R155W;ENSP00000411124:R219W;ENSP00000451397:R231W;ENSP00000452157:R219W;ENSP00000452607:R155W	ENSP00000347301:R219W	R	-	1	2	BEGAIN	100075186	0.989000	0.36119	0.025000	0.17156	0.008000	0.06430	3.435000	0.52849	0.777000	0.33496	0.462000	0.41574	CGG	BEGAIN	-	NULL		0.716	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	G	NM_020836		101005433	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	0.229	A	A	101005433	G	A	101005433	3	1	58	1	0	0	0	0	1	0	0	0	1398	1086	38	2	1130	2	BEGAIN	14	101005433	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	401313	101005433	6344107	954	8704										
AHNAK2	113146	genome.wustl.edu	37	chr14	105410048	105410048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caccttggggtcttttaggtCcagcttggggcccttgatgt	13	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:105410048C>G	ENST00000333244.5	-	7	11859	c.11740G>C	c.(11740-11742)Gac>Cac	p.D3914H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3914						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3914H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTTTAGGTCCAGCTTGGGG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											145	151	149					14																	105410048		1895	4106	6001	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11740G>C	14.37:g.105410048C>G	ENSP00000353114:p.Asp3914His		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D3914H	ENST00000333244.5	37	c.11740	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	10.05	1.244770	0.22796	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	3.72	3.72	0.42706	.	0.761386	0.09922	U	0.738352	T	0.11410	0.0278	M	0.77103	2.36	0.22918	N	0.998565	D	0.76494	0.999	D	0.79784	0.993	T	0.13150	-1.0520	10	0.66056	D	0.02	.	8.2651	0.31808	0.0:0.8121:0.0:0.1879	.	3914	Q8IVF2	AHNK2_HUMAN	H	3914	ENSP00000353114:D3914H	ENSP00000353114:D3914H	D	-	1	0	AHNAK2	104481093	0.000000	0.05858	0.661000	0.29709	0.094000	0.18550	0.160000	0.16462	1.929000	0.55896	0.313000	0.20887	GAC	AHNAK2	-	NULL		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105410048	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.639	G	G	105410048	C	G	105410048	3	3	58	1	0	0	0	0	1	0	0	0	415	855	30	1	5651	1	AHNAK2	14	105410048	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4404615	105410048	1939492	955	8705										
NUDT14	256281	genome.wustl.edu	37	chr14	105643316	105643316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcacctggccggaactgcttCaccaacaccaggctcctccg	8	18	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:105643316C>T	ENST00000392568.2	-	3	267	c.174G>A	c.(172-174)gtG>gtA	p.V58V	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	58	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.V58V(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGAACTGCTTCACCAACACCA	0.607										HNSCC(42;0.11)																																							1	Substitution - coding silent(1)	cervix(1)											41	35	37					14																	105643316		2193	4289	6482	SO:0001819	synonymous_variant	256281			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.174G>A	14.37:g.105643316C>T			Q86SJ8	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	p.V58	ENST00000392568.2	37	c.174	CCDS10000.1	14																																																																																			NUDT14	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase		0.607	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT14	HGNC	protein_coding	OTTHUMT00000074544.4	C	NM_177533		105643316	-1	no_errors	ENST00000392568	ensembl	human	known	70_37	silent	SNP	0.999	T	T	105643316	C	T	105643316	2	4	58	1	0	0	0	0	0	0	0	1	10754	813	29	1		1	NUDT14	14	105643316	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	233268	105643316	1706224	956	8706										
MKRN3	7681	genome.wustl.edu	37	chr15	23811531	23811531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcaggtgtagaaagctgggCggatgccattgagtttgttc	15	6	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:23811531C>T	ENST00000314520.3	+	1	1078	c.602C>T	c.(601-603)gCg>gTg	p.A201V	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A201V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAAGCTGGGCGGATGCCATT	0.592																																																	1	Substitution - Missense(1)	cervix(1)											38	44	42					15																	23811531		2202	4300	6502	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.602C>T	15.37:g.23811531C>T	ENSP00000313881:p.Ala201Val			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.A201V	ENST00000314520.3	37	c.602	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	C	0.124	-1.121749	0.01785	.	.	ENSG00000179455	ENST00000314520	T	0.27557	1.66	4.07	-6.96	0.01622	.	0.299532	0.29707	N	0.011402	T	0.06416	0.0165	N	0.02539	-0.55	0.24997	N	0.991498	B	0.14438	0.01	B	0.06405	0.002	T	0.28522	-1.0041	10	0.07482	T	0.82	.	4.1067	0.10040	0.1667:0.5204:0.0891:0.2239	.	201	Q13064	MKRN3_HUMAN	V	201	ENSP00000313881:A201V	ENSP00000313881:A201V	A	+	2	0	MKRN3	21362624	0.877000	0.30153	0.002000	0.10522	0.273000	0.26683	0.487000	0.22356	-1.444000	0.01950	-1.475000	0.01000	GCG	MKRN3	-	NULL		0.592	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	C	NM_005664		23811531	1	no_errors	ENST00000314520	ensembl	human	known	70_37	missense	SNP	0.053	T	T	23811531	C	T	23811531	3	4	58	1	0	0	0	0	1	0	0	0	9631	768	27	2	604	2	MKRN3	15	23811531	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		23811531	78719861	957	8707										
RYR3	6263	genome.wustl.edu	37	chr15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactcaaaaacagacaaaatCttttcaaggaagaggtaagt	7	7	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L475V(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGACAAAATCTTTTCAAGGA	0.443																																																	3	Substitution - Missense(3)	lung(2)|cervix(1)											37	37	37					15																	33872331		1909	4129	6038	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1423C>G	15.37:g.33872331C>G	ENSP00000373884:p.Leu475Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L475V	ENST00000389232.4	37	c.1423	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519419	0.85495	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99376	-5.79;-5.79	5.15	5.15	0.70609	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000001	D	0.99477	0.9814	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.77557	0.99;0.952	D	0.98681	1.0692	10	0.72032	D	0.01	.	18.8252	0.92115	0.0:1.0:0.0:0.0	.	475;475	Q15413-2;Q15413	.;RYR3_HUMAN	V	475	ENSP00000373884:L475V;ENSP00000399610:L475V	ENSP00000354735:L475V	L	+	1	0	RYR3	31659623	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.748000	0.62148	2.674000	0.91012	0.655000	0.94253	CTT	RYR3	-	pfam_Ca-rel_channel		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33872331	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33872331	C	G	33872331	3	3	58	1	0	0	0	0	1	0	0	0	13800	913	32	1	1473	1	RYR3	15	33872331	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	10060800	33872331	68659061	958	8708										
RYR3	6263	genome.wustl.edu	37	chr15	33988603	33988603	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctctgtaagcgacaccatCaacctgctggctgccctggg	10	15	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:33988603C>T	ENST00000389232.4	+	39	6115	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	RYR3_ENST00000415757.3_Silent_p.I2015I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2015	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.I2015I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCGACACCATCAACCTGCTGG	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											94	100	98					15																	33988603		2141	4255	6396	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6045C>T	15.37:g.33988603C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.I2015	ENST00000389232.4	37	c.6045	CCDS45210.1	15																																																																																			RYR3	-	NULL		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33988603	1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	0.996	T	T	33988603	C	T	33988603	2	4	58	1	0	0	0	0	0	0	0	1	13800	816	29	1		1	RYR3	15	33988603	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	116272	33988603	68542789	959	8709										
SLC12A6	9990	genome.wustl.edu	37	chr15	34553159	34553159	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaatttttatcaaaatattCatctccttcttcataattgg	2	8	5	0	rs199747285		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:34553159C>T	ENST00000354181.3	-	4	871	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	127					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E118K(1)|p.E76K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCAAAATATTCATCTCCTTCT	0.333																																																	2	Substitution - Missense(2)	cervix(2)											65	71	69					15																	34553159		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.379G>A	15.37:g.34553159C>T	ENSP00000346112:p.Glu127Lys		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.E118K	ENST00000354181.3	37	c.352	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103382	0.56291	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	4.87	4.87	0.63330	.	0.205869	0.41500	D	0.000869	T	0.72581	0.3478	N	0.19112	0.55	0.80722	D	1	B;P;B	0.37548	0.058;0.599;0.071	B;B;B	0.38327	0.098;0.271;0.065	T	0.71069	-0.4699	10	0.23302	T	0.38	.	15.0441	0.71813	0.0:1.0:0.0:0.0	.	112;127;76	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	K	76;112;118;68;68	ENSP00000290209:E76K;ENSP00000380819:E112K;ENSP00000380814:E68K;ENSP00000387725:E68K	ENSP00000290209:E76K	E	-	1	0	SLC12A6	32340451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.199000	0.51043	2.530000	0.85305	0.563000	0.77884	GAA	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS		0.333	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	C	NM_005135		34553159	-1	no_errors	ENST00000558589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34553159	C	T	34553159	3	4	58	1	0	0	0	0	1	0	0	0	14417	835	29	1	3165	1	SLC12A6	15	34553159	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	564556	34553159	67978233	960	8710										
AQR	9716	genome.wustl.edu	37	chr15	35166070	35166070	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcagattctcccactccttGaaaatcttcaacattaatga	3	11	4	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:35166070G>A	ENST00000156471.5	-	30	3781	c.3556C>T	c.(3556-3558)Caa>Taa	p.Q1186*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1186					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q1186*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCCACTCCTTGAAAATCTTCA	0.388																																																	1	Substitution - Nonsense(1)	cervix(1)											88	87	87					15																	35166070		1850	4090	5940	SO:0001587	stop_gained	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3556C>T	15.37:g.35166070G>A	ENSP00000156471:p.Gln1186*		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	NULL	p.Q1186*	ENST00000156471.5	37	c.3556	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	43	10.028796	0.99320	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.26	5.26	0.73747	.	0.090591	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1233	13.329	0.60475	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1186	.	ENSP00000156471:Q1186X	Q	-	1	0	AQR	32953362	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.492000	0.66893	2.616000	0.88540	0.650000	0.86243	CAA	AQR	-	NULL		0.388	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35166070	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	35166070	G	A	35166070	4	1	58	1	0	0	0	0	0	1	0	0	835	1299	45	1	925	1	AQR	15	35166070	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	612911	35166070	67365322	961	8711										
CHST14	113189	genome.wustl.edu	37	chr15	40764159	40764159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggcggtacagggctggagcGgggcccagccctgcaggcga	19	12	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:40764159G>A	ENST00000306243.5	+	1	1000	c.747G>A	c.(745-747)gcG>gcA	p.A249A	CHST14_ENST00000559991.1_Silent_p.A224A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	249					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)	p.A249A(1)		cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGGCTGGAGCGGGGCCCAGCC	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											77	93	88					15																	40764159		2203	4300	6503	SO:0001819	synonymous_variant	113189			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.747G>A	15.37:g.40764159G>A			Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	pfam_Sulfotransferase	p.A249	ENST00000306243.5	37	c.747	CCDS10059.1	15																																																																																			CHST14	-	pfam_Sulfotransferase		0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	HGNC	protein_coding	OTTHUMT00000252251.1	G	NM_130468		40764159	1	no_errors	ENST00000306243	ensembl	human	known	70_37	silent	SNP	0.002	A	A	40764159	G	A	40764159	2	1	58	1	0	0	0	0	0	0	0	1	3407	1103	39	2		2	CHST14	15	40764159	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5598089	40764159	61767233	962	8712										
INO80	54617	genome.wustl.edu	37	chr15	41275976	41275976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttaccattcacggtatctgaGacggagcctgttatggatgc	11	9	2	1	rs535315141		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:41275976G>A	ENST00000361937.3	-	34	4645	c.4221C>T	c.(4219-4221)gtC>gtT	p.V1407V	INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Silent_p.V1407V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1407	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V1407V(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGGTATCTGAGACGGAGCCTG	0.547																																																	2	Substitution - coding silent(2)	cervix(2)											88	66	73					15																	41275976		2203	4300	6503	SO:0001819	synonymous_variant	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4221C>T	15.37:g.41275976G>A			A6H8X4|Q9NTG6	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1407	ENST00000361937.3	37	c.4221	CCDS10071.1	15																																																																																			INO80	-	NULL		0.547	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	G	NM_017553		41275976	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	silent	SNP	0.998	A	A	41275976	G	A	41275976	2	1	58	1	0	0	0	0	0	0	0	1	7766	929	33	1		1	INO80	15	41275976	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	511817	41275976	61255416	963	8713										
RPAP1	26015	genome.wustl.edu	37	chr15	41815045	41815045	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaatgggaagggtgaggctGagccagccagactgagacgg	19	7	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:41815045G>A	ENST00000304330.4	-	19	2776	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	RPAP1_ENST00000561603.1_Missense_Mutation_p.S887L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	887	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S887L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGTGAGGCTGAGCCAGCCAG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											64	55	58					15																	41815045		2202	4300	6502	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2660C>T	15.37:g.41815045G>A	ENSP00000306123:p.Ser887Leu		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S887L	ENST00000304330.4	37	c.2660	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517683	0.85495	.	.	ENSG00000103932	ENST00000304330	T	0.12879	2.64	5.27	5.27	0.74061	.	0.208913	0.42964	D	0.000623	T	0.19485	0.0468	L	0.60455	1.87	0.49299	D	0.999773	B	0.32939	0.391	B	0.32928	0.155	T	0.02167	-1.1202	10	0.87932	D	0	-19.7813	19.0978	0.93260	0.0:0.0:1.0:0.0	.	887	Q9BWH6	RPAP1_HUMAN	L	887	ENSP00000306123:S887L	ENSP00000306123:S887L	S	-	2	0	RPAP1	39602337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.201000	0.77847	2.735000	0.93741	0.655000	0.94253	TCA	RPAP1	-	NULL		0.637	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41815045	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41815045	G	A	41815045	3	1	58	1	0	0	0	0	1	0	0	0	13571	1294	45	1	1549	1	RPAP1	15	41815045	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	539069	41815045	60716347	964	8714										
PLA2G4F	255189	genome.wustl.edu	37	chr15	42446305	42446305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcacctggtggttgagtggGaaggtgtgtttgtgaggttg	18	4	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:42446305G>A	ENST00000382396.4	-	4	521	c.435C>T	c.(433-435)ttC>ttT	p.F145F	PLA2G4F_ENST00000397272.3_Silent_p.F145F			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	145					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.F145F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGTTGAGTGGGAAGGTGTGTT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											98	91	93					15																	42446305		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.435C>T	15.37:g.42446305G>A			Q6ZMC8	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.F145	ENST00000382396.4	37	c.435	CCDS32204.1	15																																																																																			PLA2G4F	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	G	NM_213600		42446305	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	silent	SNP	0.349	A	A	42446305	G	A	42446305	2	1	58	1	0	0	0	0	0	0	0	1	12030	1165	41	1		1	PLA2G4F	15	42446305	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	631260	42446305	60085087	965	8715										
CAPN3	825	genome.wustl.edu	37	chr15	42680062	42680062	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcaatgagttctggagtgctCtgctggagaaggcttatgct	14	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:42680062C>G	ENST00000397163.3	+	4	829	c.610C>G	c.(610-612)Ctg>Gtg	p.L204V	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.L117V|CAPN3_ENST00000318023.7_Missense_Mutation_p.L204V|CAPN3_ENST00000357568.3_Missense_Mutation_p.L204V|CAPN3_ENST00000349748.3_Missense_Mutation_p.L204V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	204	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		Missing (in LGMD2A). {ECO:0000269|PubMed:9452114}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L117V(1)|p.L204V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTGGAGTGCTCTGCTGGAGAA	0.498																																																	2	Substitution - Missense(2)	cervix(2)											185	159	168					15																	42680062		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.610C>G	15.37:g.42680062C>G	ENSP00000380349:p.Leu204Val		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L204V	ENST00000397163.3	37	c.610	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131500	0.77549	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.99338	-5.76;-5.76;-5.76;-5.76;-5.76	5.94	5.94	0.96194	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.64402	U	0.000010	D	0.99579	0.9848	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.998;0.999;1.0	D;D;D;D;D;D	0.97110	0.977;0.999;0.997;0.975;0.999;1.0	D	0.98266	1.0501	10	0.87932	D	0	.	10.6779	0.45797	0.0:0.8588:0.0:0.1412	.	117;117;204;204;204;117	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	V	117;204;204;204;204	ENSP00000348667:L117V;ENSP00000380349:L204V;ENSP00000350181:L204V;ENSP00000183936:L204V;ENSP00000326281:L204V	ENSP00000326281:L204V	L	+	1	2	CAPN3	40467354	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.954000	0.63631	2.826000	0.97356	0.561000	0.74099	CTG	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42680062	1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42680062	C	G	42680062	3	3	58	1	0	0	0	0	1	0	0	0	2633	912	32	1	676	1	CAPN3	15	42680062	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	233757	42680062	59851330	966	8716										
TTBK2	146057	genome.wustl.edu	37	chr15	43044395	43044395	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagggagtgagcacttcctCctcacaaaagggagcaggaa	12	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:43044395C>G	ENST00000267890.6	-	14	3157	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1017					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1017Q(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCACTTCCTCCTCACAAAAG	0.458																																																	1	Substitution - Missense(1)	cervix(1)											94	92	93					15																	43044395		1932	4129	6061	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3049G>C	15.37:g.43044395C>G	ENSP00000267890:p.Glu1017Gln		O94932|Q6ZN52|Q8IVV1	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.E1017Q	ENST00000267890.6	37	c.3049	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764884	0.49574	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.54479	0.57	5.78	5.78	0.91487	.	0.055436	0.64402	D	0.000002	T	0.54351	0.1853	M	0.62723	1.935	0.80722	D	1	P;P	0.39216	0.664;0.534	B;B	0.35971	0.215;0.107	T	0.60525	-0.7246	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	948;1017	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	Q	1017;947;1422	ENSP00000267890:E1017Q	ENSP00000263802:E1422Q	E	-	1	0	TTBK2	40831687	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.802000	0.55553	2.734000	0.93682	0.563000	0.77884	GAG	TTBK2	-	NULL		0.458	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	C	NM_173500		43044395	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43044395	C	G	43044395	3	3	58	1	0	0	0	0	1	0	0	0	16708	864	30	1	693	1	TTBK2	15	43044395	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	364333	43044395	59486997	967	8717										
ZSCAN29	146050	genome.wustl.edu	37	chr15	43658612	43658612	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgactttccgatagctcttCtggagacctttgaacttggt	9	9	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:43658612C>T	ENST00000396976.2	-	3	1052	c.918G>A	c.(916-918)caG>caA	p.Q306Q	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Silent_p.Q305Q	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	306					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q306Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GATAGCTCTTCTGGAGACCTT	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											81	88	86					15																	43658612		2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.918G>A	15.37:g.43658612C>T			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q306	ENST00000396976.2	37	c.918	CCDS10095.2	15																																																																																			ZSCAN29	-	NULL		0.562	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	C	NM_152455		43658612	-1	no_errors	ENST00000396976	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43658612	C	T	43658612	2	4	58	1	0	0	0	0	0	0	0	1	18266	912	32	1		1	ZSCAN29	15	43658612	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	614217	43658612	58872780	968	8718										
MAP1A	4130	genome.wustl.edu	37	chr15	43814640	43814640	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgatagcaaggagagcctCaaagccactaccaagacggc	11	12	1	3	rs201259084		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:43814640C>G	ENST00000300231.5	+	4	1419	c.969C>G	c.(967-969)ctC>ctG	p.L323L	MAP1A_ENST00000382031.1_Silent_p.L561L|MAP1A_ENST00000399453.1_Silent_p.L323L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	323	Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.L323L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGAGAGCCTCAAAGCCACTA	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											42	46	44					15																	43814640		2056	4208	6264	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.969C>G	15.37:g.43814640C>G			O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.L323	ENST00000300231.5	37	c.969	CCDS42031.1	15																																																																																			MAP1A	-	NULL		0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43814640	1	no_errors	ENST00000399453	ensembl	human	known	70_37	silent	SNP	1.000	G	G	43814640	C	G	43814640	2	3	58	1	0	0	0	0	0	0	0	1	9250	813	29	1		1	MAP1A	15	43814640	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	156028	43814640	58716752	969	8719										
ELL3	80237	genome.wustl.edu	37	chr15	44068050	44068050	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgatgatggggctgggataGaatccatggctgcccaaata	13	8	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:44068050G>A	ENST00000319359.3	-	4	994	c.353C>T	c.(352-354)tCt>tTt	p.S118F	RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	118					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.S118F(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGCTGGGATAGAATCCATGGC	0.522											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											82	78	79					15																	44068050		2198	4298	6496	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.353C>T	15.37:g.44068050G>A	ENSP00000320346:p.Ser118Phe	921	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S118F	ENST00000319359.3	37	c.353	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701406	0.68501	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.43688	0.94;0.94	5.67	4.75	0.60458	.	0.357125	0.24396	N	0.038882	T	0.42337	0.1198	M	0.72118	2.19	0.34644	D	0.720969	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15052	0.012;0.012;0.012	T	0.53947	-0.8366	10	0.54805	T	0.06	-21.5643	10.9279	0.47201	0.0883:0.0:0.9117:0.0	.	118;118;72	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	F	118;148	ENSP00000320346:S118F;ENSP00000404209:S148F	ENSP00000320346:S118F	S	-	2	0	ELL3	41855342	0.996000	0.38824	0.951000	0.38953	0.898000	0.52572	2.895000	0.48648	2.676000	0.91093	0.655000	0.94253	TCT	ELL3	-	pfam_RNA_pol_II_elong_fac_ELL		0.522	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	G	NM_025165		44068050	-1	no_errors	ENST00000319359	ensembl	human	known	70_37	missense	SNP	0.924	A	A	44068050	G	A	44068050	3	1	58	1	0	0	0	0	1	0	0	0	5076	942	33	1	872	1	ELL3	15	44068050	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	253410	44068050	58463342	970	8720										
B2M	567	genome.wustl.edu	37	chr15	45007833	45007833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acactgaattcacccccactGaaaaagatgagtatgcctgc	7	12	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:45007833G>A	ENST00000558401.1	+	2	350	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E94K|B2M_ENST00000544417.1_Missense_Mutation_p.E94K	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	94	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E94K(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGA	0.423																																																	1	Substitution - Missense(1)	cervix(1)											138	134	135					15																	45007833		2198	4298	6496	SO:0001583	missense	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.280G>A	15.37:g.45007833G>A	ENSP00000452780:p.Glu94Lys		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	p.E94K	ENST00000558401.1	37	c.280	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657839	0.29425	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.09817	2.94	5.82	0.565	0.17309	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.312150	0.00976	N	0.003310	T	0.10680	0.0261	L	0.43554	1.36	0.09310	N	1	B;B	0.25390	0.125;0.004	B;B	0.26969	0.075;0.009	T	0.28332	-1.0047	10	0.25106	T	0.35	.	4.1273	0.10133	0.3281:0.0:0.5198:0.1521	.	94;94	F5H6I0;P61769	.;B2MG_HUMAN	K	94	ENSP00000437604:E94K	ENSP00000340858:E94K	E	+	1	0	B2M	42795125	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.390000	0.25115	-0.150000	0.13652	GAA	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.423	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	G	NM_004048		45007833	1	no_errors	ENST00000544417	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45007833	G	A	45007833	3	1	58	1	0	0	0	0	1	0	0	0	1245	1291	45	1	286	1	B2M	15	45007833	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	939783	45007833	57523559	971	8721										
CEP152	22995	genome.wustl.edu	37	chr15	49048135	49048135	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcagcgttttctacaagcaGaggaagtgtatcttgaaatg	11	6	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:49048135G>A	ENST00000380950.2	-	20	3497	c.3310C>T	c.(3310-3312)Ctg>Ttg	p.L1104L	CEP152_ENST00000325747.5_Silent_p.L1011L|CEP152_ENST00000399334.3_Silent_p.L1104L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1104					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L1104L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTACAAGCAGAGGAAGTGTA	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											163	159	160					15																	49048135		2015	4181	6196	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3310C>T	15.37:g.49048135G>A			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	NULL	p.L1104	ENST00000380950.2	37	c.3310	CCDS58361.1	15																																																																																			CEP152	-	NULL		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49048135	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	silent	SNP	0.000	A	A	49048135	G	A	49048135	2	1	58	1	0	0	0	0	0	0	0	1	3253	933	33	1		1	CEP152	15	49048135	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4040302	49048135	53483257	972	8722										
GABPB1	2553	genome.wustl.edu	37	chr15	50596276	50596276	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accagctcgcagcagtacctCtgtggtggaataatgaccat	10	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:50596276C>G	ENST00000220429.8	-	3	331	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	GABPB1_ENST00000560825.1_Missense_Mutation_p.E55Q|GABPB1_ENST00000396464.3_Missense_Mutation_p.E55Q|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000359031.4_Missense_Mutation_p.E55Q|GABPB1_ENST00000380877.3_Missense_Mutation_p.E55Q|GABPB1_ENST00000429662.2_Missense_Mutation_p.E55Q			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	55					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E55Q(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						AGCAGTACCTCTGTGGTGGAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											158	129	139					15																	50596276		2196	4295	6491	SO:0001583	missense	2553			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.163G>C	15.37:g.50596276C>G	ENSP00000220429:p.Glu55Gln		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E55Q	ENST00000220429.8	37	c.163	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	C	30	5.056163	0.93793	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	L	0.41492	1.28	0.80722	D	1	D;P;D;D;D	0.62365	0.991;0.903;0.971;0.976;0.971	D;P;B;D;B	0.72982	0.979;0.572;0.396;0.954;0.396	T	0.61078	-0.7135	10	0.51188	T	0.08	-15.49	19.6374	0.95740	0.0:1.0:0.0:0.0	.	55;55;55;55;55	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	Q	55	ENSP00000220429:E55Q;ENSP00000370259:E55Q;ENSP00000379728:E55Q;ENSP00000395771:E55Q;ENSP00000351923:E55Q	ENSP00000220429:E55Q	E	-	1	0	GABPB1	48383568	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	GAG	GABPB1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1	C			50596276	-1	no_errors	ENST00000220429	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50596276	C	G	50596276	3	3	58	1	0	0	0	0	1	0	0	0	6176	922	32	1	1100	1	GABPB1	15	50596276	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1548141	50596276	51935116	973	8723										
DMXL2	23312	genome.wustl.edu	37	chr15	51768825	51768825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaatttggtgttgcgtgttCttcaatgctttctgtcctta	9	7	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:51768825C>G	ENST00000251076.5	-	27	7209	c.6922G>C	c.(6922-6924)Gaa>Caa	p.E2308Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.E1672Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2309Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2308						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.E2308Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTGCGTGTTCTTCAATGCTT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											174	164	167					15																	51768825		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6922G>C	15.37:g.51768825C>G	ENSP00000251076:p.Glu2308Gln		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2309Q	ENST00000251076.5	37	c.6925	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849062	0.91277	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26810	1.84;1.85;1.71	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.73598	2.24	0.80722	D	1	D;D;D;P	0.89917	1.0;0.993;0.997;0.949	D;D;D;P	0.75484	0.982;0.968;0.986;0.54	T	0.57254	-0.7843	10	0.72032	D	0.01	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	2309;1672;2308;2309	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2308;2309;1672	ENSP00000251076:E2308Q;ENSP00000441858:E2309Q;ENSP00000400855:E1672Q	ENSP00000251076:E2308Q	E	-	1	0	DMXL2	49556117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.502000	0.84385	0.655000	0.94253	GAA	DMXL2	-	NULL		0.358	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51768825	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51768825	C	G	51768825	3	3	58	1	0	0	0	0	1	0	0	0	4605	922	32	1	2256	1	DMXL2	15	51768825	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1172549	51768825	50762567	974	8724										
KIAA1370	56204	genome.wustl.edu	37	chr15	52901377	52901377	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgatttcttgtttgatgtttCaaagaacacttttctttact	5	6	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:52901377C>T	ENST00000261844.7	-	6	1886	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	FAM214A_ENST00000546305.2_Silent_p.L585L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	578								p.L578L(1)									TTTGATGTTTCAAAGAACACT	0.313																																																	1	Substitution - coding silent(1)	cervix(1)											53	53	53					15																	52901377		1806	4065	5871	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1734G>A	15.37:g.52901377C>T			A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.L578	ENST00000261844.7	37	c.1734	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.313	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52901377	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.002	T	T	52901377	C	T	52901377	2	4	58	1	0	0	0	0	0	0	0	1	8246	825	29	1		1	KIAA1370	15	52901377	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1132552	52901377	49630015	975	8725										
CCPG1	9236	genome.wustl.edu	37	chr15	55664134	55664134	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctagccggtcttcagattctGaagcagaaacggtcttcttc	9	11	5	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:55664134G>A	ENST00000310958.6	-	6	861	c.563C>T	c.(562-564)tCa>tTa	p.S188L	MIR628_ENST00000385229.1_RNA|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.S188L|CCPG1_ENST00000425574.3_Missense_Mutation_p.S188L|CCPG1_ENST00000442196.3_Missense_Mutation_p.S188L	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	188	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.S188L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCAGATTCTGAAGCAGAAAC	0.448																																																	1	Substitution - Missense(1)	cervix(1)											92	86	88					15																	55664134		1865	4101	5966	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.563C>T	15.37:g.55664134G>A	ENSP00000311656:p.Ser188Leu		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.S188L	ENST00000310958.6	37	c.563	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196600	0.79015	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.35421	3.65;3.65;1.31	5.74	3.88	0.44766	.	0.334930	0.32548	N	0.005941	T	0.53626	0.1808	M	0.75447	2.3	0.37177	D	0.903318	D;D;D;D	0.76494	0.999;0.995;0.999;0.986	D;D;D;P	0.69479	0.952;0.934;0.964;0.88	T	0.59710	-0.7403	10	0.59425	D	0.04	.	6.8655	0.24091	0.1514:0.1445:0.7042:0.0	.	188;188;188;44	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	L	188	ENSP00000311656:S188L;ENSP00000403400:S188L;ENSP00000415128:S188L	ENSP00000311656:S188L	S	-	2	0	DYX1C1	53451426	0.998000	0.40836	0.881000	0.34555	0.974000	0.67602	3.200000	0.51051	0.786000	0.33708	0.655000	0.94253	TCA	CCPG1	-	NULL		0.448	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	G	NM_004748		55664134	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.912	A	A	55664134	G	A	55664134	3	1	58	1	0	0	0	0	1	0	0	0	2943	1294	45	1	1722	1	CCPG1	15	55664134	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2762757	55664134	46867258	976	8726										
ALDH1A2	8854	genome.wustl.edu	37	chr15	58357776	58357776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggcgtgggcgacggcaggaGgtgcagcgacgccatgaggg	22	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:58357776G>C	ENST00000249750.4	-	1	840	c.73C>G	c.(73-75)Ctc>Gtc	p.L25V	CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.L25V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	25					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.L25V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GACGGCAGGAGGTGCAGCGAC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											36	38	37					15																	58357776		2192	4292	6484	SO:0001583	missense	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.73C>G	15.37:g.58357776G>C	ENSP00000249750:p.Leu25Val		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L25V	ENST00000249750.4	37	c.73	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278217	0.59758	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.75260	-0.92;-0.89	3.71	3.71	0.42584	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.60170	0.2248	N	0.19112	0.55	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.57837	-0.7742	10	0.36615	T	0.2	.	14.7194	0.69294	0.0:0.0:1.0:0.0	.	25;25	O94788-2;O94788	.;AL1A2_HUMAN	V	25	ENSP00000249750:L25V;ENSP00000309623:L25V	ENSP00000249750:L25V	L	-	1	0	ALDH1A2	56145068	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	8.524000	0.90579	1.942000	0.56320	0.558000	0.71614	CTC	ALDH1A2	-	superfamily_Ald_DH/histidinol_DH		0.647	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	G			58357776	-1	no_errors	ENST00000249750	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58357776	G	C	58357776	3	2	58	1	0	0	0	0	1	0	0	0	491	1000	35	4	1535	4	ALDH1A2	15	58357776	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2693642	58357776	44173616	977	8727										
RNF111	54778	genome.wustl.edu	37	chr15	59323793	59323793	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctagttctagtagttccagtGagaatgacctcagcagtgaa	10	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:59323793G>A	ENST00000557998.1	+	2	1059	c.772G>A	c.(772-774)Gag>Aag	p.E258K	RNF111_ENST00000561186.1_Missense_Mutation_p.E258K|RNF111_ENST00000434298.1_Missense_Mutation_p.E258K|RNF111_ENST00000348370.4_Missense_Mutation_p.E258K|RNF111_ENST00000559209.1_Missense_Mutation_p.E258K	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	258	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E258K(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TAGTTCCAGTGAGAATGACCT	0.408																																					NSCLC(72;983 1365 10746 34387 47081)												2	Substitution - Missense(2)	cervix(2)											135	132	133					15																	59323793		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.772G>A	15.37:g.59323793G>A	ENSP00000452732:p.Glu258Lys		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E258K	ENST00000557998.1	37	c.772	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025718	0.93518	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19532	2.14;2.14	5.28	5.28	0.74379	.	0.054127	0.64402	D	0.000001	T	0.41558	0.1164	L	0.54323	1.7	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.61800	0.894;0.787;0.894	T	0.20075	-1.0286	10	0.72032	D	0.01	-7.8664	19.2842	0.94065	0.0:0.0:1.0:0.0	.	258;258;258	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	K	258	ENSP00000288199:E258K;ENSP00000393641:E258K	ENSP00000288199:E258K	E	+	1	0	RNF111	57111085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.089000	0.76909	2.629000	0.89072	0.650000	0.86243	GAG	RNF111	-	NULL		0.408	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	G	NM_017610		59323793	1	no_errors	ENST00000434298	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59323793	G	A	59323793	3	1	58	1	0	0	0	0	1	0	0	0	13455	1291	45	1	774	1	RNF111	15	59323793	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	966017	59323793	43207599	978	8728										
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157149	65157149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctggatcttgatgttccgGacagtgggccaccagtgttt	13	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:65157149G>A	ENST00000323544.4	+	6	663	c.535G>A	c.(535-537)Gac>Aac	p.D179N	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	179	Pro-rich.							p.D179N(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGATGTTCCGGACAGTGGGCC	0.592																																																	1	Substitution - Missense(1)	cervix(1)											99	96	97					15																	65157149		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.535G>A	15.37:g.65157149G>A	ENSP00000326706:p.Asp179Asn		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D179N	ENST00000323544.4	37	c.535	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075664	0.55646	.	.	ENSG00000241839	ENST00000323544;ENST00000546008	T	0.22539	1.95	5.64	4.73	0.59995	.	0.395309	0.30210	N	0.010147	T	0.27629	0.0679	L	0.29908	0.895	0.36506	D	0.869286	D;P	0.59767	0.986;0.911	P;B	0.56474	0.799;0.382	T	0.26224	-1.0109	10	0.72032	D	0.01	.	11.9502	0.52950	0.0797:0.0:0.9203:0.0	.	129;179	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	N	179	ENSP00000326706:D179N	ENSP00000326706:D179N	D	+	1	0	PLEKHO2	62944202	0.999000	0.42202	0.895000	0.35142	0.208000	0.24298	3.100000	0.50275	1.390000	0.46547	-0.251000	0.11542	GAC	PLEKHO2	-	NULL		0.592	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157149	1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.986	A	A	65157149	G	A	65157149	3	1	58	1	0	0	0	0	1	0	0	0	12109	1174	41	1	557	1	PLEKHO2	15	65157149	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5833356	65157149	37374243	979	8729										
DIS3L	115752	genome.wustl.edu	37	chr15	66618191	66618191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgctgtaagcatcatgtggGaactggataaagcctcttat	10	7	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:66618191G>A	ENST00000319212.4	+	12	1740	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319194.5_Missense_Mutation_p.E481K|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	564					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.E481K(1)|p.E564K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATCATGTGGGAACTGGATAA	0.358																																																	2	Substitution - Missense(2)	cervix(2)											149	158	155					15																	66618191		2201	4299	6500	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1690G>A	15.37:g.66618191G>A	ENSP00000321711:p.Glu564Lys		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E564K	ENST00000319212.4	37	c.1690	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405226	0.62288	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.35048	1.33;1.33	5.26	4.33	0.51752	Ribonuclease II/R (2);	0.048995	0.85682	D	0.000000	T	0.44052	0.1275	L	0.60455	1.87	0.80722	D	1	P;P;B	0.38129	0.456;0.619;0.402	B;P;B	0.45232	0.307;0.474;0.204	T	0.38585	-0.9654	10	0.46703	T	0.11	-8.3183	14.7783	0.69746	0.0:0.1451:0.8549:0.0	.	564;430;564	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	K	481;564	ENSP00000321583:E481K;ENSP00000321711:E564K	ENSP00000321583:E481K	E	+	1	0	DIS3L	64405245	1.000000	0.71417	0.970000	0.41538	0.718000	0.41266	6.370000	0.73114	1.170000	0.42753	0.563000	0.77884	GAA	DIS3L	-	pfam_RNase_II/R,smart_RNase_II/R		0.358	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	G	NM_133375		66618191	1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66618191	G	A	66618191	3	1	58	1	0	0	0	0	1	0	0	0	4546	1175	41	1	1736	1	DIS3L	15	66618191	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1461042	66618191	35913201	980	8730										
IQCH	64799	genome.wustl.edu	37	chr15	67664960	67664960	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagaagatactaaaggaatCacgtcagagacacctggaga	10	7	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:67664960C>G	ENST00000335894.4	+	9	1331	c.1265C>G	c.(1264-1266)tCa>tGa	p.S422*	IQCH_ENST00000546225.1_Nonsense_Mutation_p.S170*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.S249*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.S174*	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	422								p.S422*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTAAAGGAATCACGTCAGAGA	0.458																																																	1	Substitution - Nonsense(1)	cervix(1)											111	117	115					15																	67664960		2198	4298	6496	SO:0001587	stop_gained	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1265C>G	15.37:g.67664960C>G	ENSP00000336861:p.Ser422*		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Nonsense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.S422*	ENST00000335894.4	37	c.1265	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.219988	0.98712	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	.	.	.	6.02	2.92	0.33932	.	0.448888	0.24240	N	0.040261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.9848	12.8137	0.57652	0.2266:0.6636:0.1098:0.0	.	.	.	.	X	249;170;422;174	.	ENSP00000336861:S422X	S	+	2	0	IQCH	65452014	0.010000	0.17322	0.023000	0.16930	0.685000	0.39939	1.923000	0.40055	1.483000	0.48342	0.650000	0.86243	TCA	IQCH	-	NULL		0.458	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	C	NM_022784		67664960	1	no_errors	ENST00000335894	ensembl	human	known	70_37	nonsense	SNP	0.001	G	G	67664960	C	G	67664960	4	3	58	1	0	0	0	0	0	1	0	0	7831	838	29	1	1427	1	IQCH	15	67664960	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1046769	67664960	34866432	981	8731										
MYO9A	4649	genome.wustl.edu	37	chr15	72231235	72231235	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cattcatgccctggagatcaGaaagaggtgttctgggattt	12	7	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:72231235G>C	ENST00000356056.5	-	16	2808	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S760C|MYO9A_ENST00000424560.1_Missense_Mutation_p.S779C|MYO9A_ENST00000564571.1_Missense_Mutation_p.S779C|MYO9A_ENST00000566885.1_Missense_Mutation_p.S399C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	779	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.S779C(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGAGATCAGAAAGAGGTGT	0.318																																																	1	Substitution - Missense(1)	cervix(1)											72	73	73					15																	72231235		2199	4296	6495	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2336C>G	15.37:g.72231235G>C	ENSP00000348349:p.Ser779Cys		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.S779C	ENST00000356056.5	37	c.2336	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165925	0.78339	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.87103	-2.21;-2.21;-2.2	5.45	5.45	0.79879	Myosin head, motor domain (1);	.	.	.	.	D	0.91898	0.7435	M	0.61703	1.905	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.995;0.998	D;P;P	0.72075	0.976;0.818;0.887	D	0.92082	0.5673	9	0.59425	D	0.04	.	14.7606	0.69604	0.0:0.0:1.0:0.0	.	760;760;779	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	C	779;779;760;760	ENSP00000348349:S779C;ENSP00000399162:S779C;ENSP00000398250:S760C	ENSP00000261864:S760C	S	-	2	0	MYO9A	70018289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.066000	0.76734	2.573000	0.86826	0.585000	0.79938	TCT	MYO9A	-	smart_Myosin_head_motor_dom		0.318	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72231235	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72231235	G	C	72231235	3	2	58	1	0	0	0	0	1	0	0	0	10107	942	33	1	5418	1	MYO9A	15	72231235	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4566275	72231235	30300157	982	8732										
GRAMD2	196996	genome.wustl.edu	37	chr15	72460080	72460080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaccactcattactaccttGatatccttgccaaagaggct	5	13	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:72460080G>C	ENST00000309731.7	-	5	382	c.369C>G	c.(367-369)atC>atG	p.I123M	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	123	GRAM.					integral component of membrane (GO:0016021)		p.I123M(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTACTACCTTGATATCCTTGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											78	71	73					15																	72460080		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.369C>G	15.37:g.72460080G>C	ENSP00000311657:p.Ile123Met		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.I123M	ENST00000309731.7	37	c.369	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631398	0.67015	.	.	ENSG00000175318	ENST00000309731	D	0.86497	-2.13	5.0	2.0	0.26442	GRAM (2);	0.096428	0.64402	D	0.000001	D	0.88702	0.6508	L	0.49350	1.555	0.38012	D	0.934576	D	0.89917	1.0	D	0.97110	1.0	D	0.86416	0.1751	10	0.87932	D	0	.	4.2599	0.10735	0.0771:0.1384:0.4988:0.2857	.	123	Q8IUY3	GRAM2_HUMAN	M	123	ENSP00000311657:I123M	ENSP00000311657:I123M	I	-	3	3	GRAMD2	70247134	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	2.914000	0.48797	0.259000	0.21709	0.561000	0.74099	ATC	GRAMD2	-	pfam_GRAM,smart_GRAM		0.597	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	G	NM_001012642		72460080	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72460080	G	C	72460080	3	2	58	1	0	0	0	0	1	0	0	0	6770	1280	45	1	727	1	GRAMD2	15	72460080	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	228845	72460080	30071312	983	8733										
TMEM202	338949	genome.wustl.edu	37	chr15	72699036	72699036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagctcttggatccttaatcGaggaagcatgaccaccaact	8	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:72699036G>A	ENST00000341689.3	+	3	485	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	TMEM202_ENST00000567679.1_Missense_Mutation_p.E59K	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	144						integral component of membrane (GO:0016021)		p.R144Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATCCTTAATCGAGGAAGCATG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											155	143	147					15																	72699036		2199	4297	6496	SO:0001583	missense	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.431G>A	15.37:g.72699036G>A	ENSP00000340212:p.Arg144Gln			Missense_Mutation	SNP	NULL	p.R144Q	ENST00000341689.3	37	c.431	CCDS32287.1	15	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065367	0.36470	.	.	ENSG00000187806	ENST00000341689	T	0.62941	-0.01	5.42	-1.47	0.08772	.	0.471212	0.20043	N	0.100468	T	0.42698	0.1214	L	0.56769	1.78	0.09310	N	1	P	0.46327	0.876	B	0.36666	0.23	T	0.36237	-0.9756	10	0.29301	T	0.29	-19.8039	1.0668	0.01612	0.3777:0.1486:0.3214:0.1522	.	144	A6NGA9	TM202_HUMAN	Q	144	ENSP00000340212:R144Q	ENSP00000340212:R144Q	R	+	2	0	TMEM202	70486090	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.091000	0.15046	0.061000	0.16311	0.655000	0.94253	CGA	TMEM202	-	NULL		0.453	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	G	NM_001080462		72699036	1	no_errors	ENST00000341689	ensembl	human	known	70_37	missense	SNP	0.000	A	A	72699036	G	A	72699036	3	1	58	1	0	0	0	0	1	0	0	0	16157	1058	37	1	441	1	TMEM202	15	72699036	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	238956	72699036	29832356	984	8734										
NEO1	4756	genome.wustl.edu	37	chr15	73562772	73562772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagtacatggagtatgacagCccatgggaccacctttgaat	10	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:73562772C>T	ENST00000339362.5	+	19	3281	c.2834C>T	c.(2833-2835)gCc>gTc	p.A945V	NEO1_ENST00000558964.1_Missense_Mutation_p.A945V|NEO1_ENST00000560262.1_Missense_Mutation_p.A945V|NEO1_ENST00000261908.6_Missense_Mutation_p.A945V			Q92859	NEO1_HUMAN	neogenin 1	945	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A945V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGTATGACAGCCCATGGGACC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											111	111	111					15																	73562772		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2834C>T	15.37:g.73562772C>T	ENSP00000341198:p.Ala945Val		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A945V	ENST00000339362.5	37	c.2834	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439083	0.83885	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.48836	0.8;0.8	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	N	0.21194	0.64	0.80722	D	1	D;P;P;D	0.89917	1.0;0.934;0.934;0.987	D;B;P;P	0.87578	0.998;0.387;0.613;0.592	T	0.42413	-0.9453	10	0.12430	T	0.62	-19.8562	20.3932	0.98965	0.0:1.0:0.0:0.0	.	945;945;667;945	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	V	945;667;945	ENSP00000341198:A945V;ENSP00000261908:A945V	ENSP00000261908:A945V	A	+	2	0	NEO1	71349825	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GCC	NEO1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	C	NM_002499		73562772	1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73562772	C	T	73562772	3	4	58	1	0	0	0	0	1	0	0	0	10360	739	26	4	2904	4	NEO1	15	73562772	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	863736	73562772	28968620	985	8735										
PML	5371	genome.wustl.edu	37	chr15	74315461	74315461	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaggagcgcgagctgctgGaggctgtggacgcgcggtac	18	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:74315461G>C	ENST00000268058.3	+	3	991	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	PML_ENST00000359928.4_Missense_Mutation_p.E299Q|PML_ENST00000569477.1_Missense_Mutation_p.E299Q|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.E299Q|PML_ENST00000395132.2_Missense_Mutation_p.E299Q|PML_ENST00000564428.1_Missense_Mutation_p.E299Q|PML_ENST00000268059.6_Missense_Mutation_p.E299Q|PML_ENST00000567543.1_Missense_Mutation_p.E299Q|PML_ENST00000563500.1_Missense_Mutation_p.E299Q|PML_ENST00000565898.1_Missense_Mutation_p.E299Q|PML_ENST00000569965.1_Missense_Mutation_p.E299Q|PML_ENST00000354026.6_Missense_Mutation_p.E299Q|PML_ENST00000436891.3_Missense_Mutation_p.E299Q|PML_ENST00000435786.2_Missense_Mutation_p.E299Q	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	299					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E299Q(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGAGCTGCTGGAGGCTGTGGA	0.731			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	3	Substitution - Missense(3)	cervix(3)											17	21	20					15																	74315461		2171	4252	6423	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.895G>C	15.37:g.74315461G>C	ENSP00000268058:p.Glu299Gln		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E299Q	ENST00000268058.3	37	c.895	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149237	0.21288	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T	0.52057	2.02;0.68;2.02	5.06	-0.66	0.11421	.	0.921721	0.09194	N	0.835577	T	0.42765	0.1217	L	0.38175	1.15	0.09310	N	0.999999	B;B;P;B;P;B;B;B;B;B;B;B;B	0.37955	0.072;0.158;0.612;0.173;0.573;0.063;0.17;0.374;0.313;0.313;0.047;0.072;0.131	B;B;B;B;B;B;B;B;B;B;B;B;B	0.39465	0.093;0.065;0.3;0.069;0.151;0.034;0.11;0.243;0.133;0.133;0.025;0.093;0.159	T	0.35992	-0.9766	10	0.35671	T	0.21	-8.0366	17.2564	0.87057	0.0:0.6574:0.3426:0.0	.	299;249;299;299;299;299;299;299;299;299;299;299;302	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	Q	299	ENSP00000353004:E299Q;ENSP00000268058:E299Q;ENSP00000378564:E299Q	ENSP00000268058:E299Q	E	+	1	0	PML	72102514	0.014000	0.17966	0.005000	0.12908	0.411000	0.31082	0.189000	0.17037	-0.409000	0.07553	0.462000	0.41574	GAG	PML	-	pfam_DUF3583		0.731	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74315461	1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.138	C	C	74315461	G	C	74315461	3	2	58	1	0	0	0	0	1	0	0	0	12159	1175	41	1	905	1	PML	15	74315461	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	752689	74315461	28215931	986	8736										
CLK3	1198	genome.wustl.edu	37	chr15	74922134	74922134	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttgaccctgcccagcgcatCacactggccgaggccctgct	10	17	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:74922134C>G	ENST00000395066.3	+	13	2288	c.1827C>G	c.(1825-1827)atC>atG	p.I609M	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.I438M|CLK3_ENST00000345005.4_Missense_Mutation_p.I461M	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.I609M(1)|p.I461M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCCAGCGCATCACACTGGCCG	0.597																																					Ovarian(133;694 1754 28950 29027 31859)												2	Substitution - Missense(2)	cervix(2)											75	57	63					15																	74922134		2197	4296	6493	SO:0001583	missense	1198			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1827C>G	15.37:g.74922134C>G	ENSP00000378505:p.Ile609Met		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	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.I609M	ENST00000395066.3	37	c.1827	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386858	0.61956	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.21734	1.99;1.99	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.44891	0.1315	M	0.70275	2.135	0.80722	D	1	B;B;B;B	0.33748	0.157;0.125;0.291;0.423	P;B;B;P	0.52189	0.625;0.294;0.422;0.692	T	0.27872	-1.0061	10	0.42905	T	0.14	.	18.3804	0.90448	0.0:1.0:0.0:0.0	.	609;314;388;438	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	M	461;461;609;438	ENSP00000344112:I461M;ENSP00000323106:I438M	ENSP00000344112:I461M	I	+	3	3	CLK3	72709187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.516000	0.45520	2.457000	0.83068	0.561000	0.74099	ATC	CLK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.597	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	C			74922134	1	no_errors	ENST00000395066	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74922134	C	G	74922134	3	3	58	1	0	0	0	0	1	0	0	0	3543	816	29	1	1877	1	CLK3	15	74922134	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	606673	74922134	27609258	987	8737										
CYP1A2	1544	genome.wustl.edu	37	chr15	75047222	75047222	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagcccttgagtgagaagatGatgctgtttggcatgggcaa	14	6	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75047222G>C	ENST00000343932.4	+	7	1407	c.1344G>C	c.(1342-1344)atG>atC	p.M448I		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	448					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.M448I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GTGAGAAGATGATGCTGTTTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											122	109	114					15																	75047222		2197	4296	6493	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1344G>C	15.37:g.75047222G>C	ENSP00000342007:p.Met448Ile		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.M448I	ENST00000343932.4	37	c.1344	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158687	0.09236	.	.	ENSG00000140505	ENST00000343932	T	0.68331	-0.32	4.29	-3.24	0.05094	.	0.237219	0.42294	D	0.000727	T	0.39279	0.1072	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13361	-1.0512	10	0.59425	D	0.04	.	7.3674	0.26781	0.2204:0.3557:0.4239:0.0	.	448	P05177-2	.	I	448	ENSP00000342007:M448I	ENSP00000342007:M448I	M	+	3	0	CYP1A2	72834275	0.121000	0.22262	0.012000	0.15200	0.026000	0.11368	0.234000	0.17930	-0.935000	0.03728	-0.786000	0.03341	ATG	CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.582	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	G	NM_000761		75047222	1	no_errors	ENST00000343932	ensembl	human	known	70_37	missense	SNP	0.016	C	C	75047222	G	C	75047222	3	2	58	1	0	0	0	0	1	0	0	0	4155	1290	45	1	1366	1	CYP1A2	15	75047222	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	125088	75047222	27484170	988	8738										
SIN3A	25942	genome.wustl.edu	37	chr15	75692404	75692404	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagcgttcatcttcacaacGataaatatgttcttcatatt	4	8	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75692404G>C	ENST00000394947.3	-	12	2145	c.1831C>G	c.(1831-1833)Cgt>Ggt	p.R611G	SIN3A_ENST00000394949.4_Missense_Mutation_p.R611G|SIN3A_ENST00000360439.4_Missense_Mutation_p.R611G	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.R611G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTTCACAACGATAAATATGT	0.438																																																	1	Substitution - Missense(1)	cervix(1)											150	143	145					15																	75692404		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1831C>G	15.37:g.75692404G>C	ENSP00000378402:p.Arg611Gly			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.R611G	ENST00000394947.3	37	c.1831	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966092	0.74131	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.56103	0.48;0.48;0.48	6.08	5.11	0.69529	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84062	0.0375	10	0.87932	D	0	-12.9996	13.8698	0.63612	0.0:0.0:0.7942:0.2058	.	611	Q96ST3	SIN3A_HUMAN	G	611	ENSP00000378402:R611G;ENSP00000378403:R611G;ENSP00000353622:R611G	ENSP00000353622:R611G	R	-	1	0	SIN3A	73479457	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.549000	0.45803	2.894000	0.99253	0.591000	0.81541	CGT	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact		0.438	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	G	NM_015477		75692404	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75692404	G	C	75692404	3	2	58	1	0	0	0	0	1	0	0	0	14355	1058	37	1	2030	1	SIN3A	15	75692404	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	645182	75692404	26838988	989	8739										
CSPG4	1464	genome.wustl.edu	37	chr15	75980337	75980337	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccacatggaagatccggctGatggtctgcacaggggcgtg	16	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75980337G>T	ENST00000308508.5	-	3	3161	c.3069C>A	c.(3067-3069)atC>atA	p.I1023I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1023	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I1023I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGATCCGGCTGATGGTCTGCA	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											39	44	43					15																	75980337		2197	4292	6489	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3069C>A	15.37:g.75980337G>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.I1023	ENST00000308508.5	37	c.3069	CCDS10284.1	15																																																																																			CSPG4	-	NULL		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75980337	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	silent	SNP	0.995	T	T	75980337	G	T	75980337	2	4	58	1	0	0	0	0	0	0	0	1	3965	1280	45	3		3	CSPG4	15	75980337	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	287933	75980337	26551055	990	8740										
CSPG4	1464	genome.wustl.edu	37	chr15	75981898	75981898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcgtggatgaagcgggccTtgcggttcaccacgtccagg	14	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75981898T>A	ENST00000308508.5	-	3	1600	c.1508A>T	c.(1507-1509)aAg>aTg	p.K503M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	503	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.K503M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGCGGGCCTTGCGGTTCAC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											47	44	45					15																	75981898		2187	4278	6465	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1508A>T	15.37:g.75981898T>A	ENSP00000312506:p.Lys503Met		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.K503M	ENST00000308508.5	37	c.1508	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	18.38	3.610773	0.66558	.	.	ENSG00000173546	ENST00000308508	T	0.56275	0.47	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000003	T	0.71392	0.3334	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74685	-0.3582	10	0.59425	D	0.04	.	13.7393	0.62838	0.0:0.0:0.0:1.0	.	503	Q6UVK1	CSPG4_HUMAN	M	503	ENSP00000312506:K503M	ENSP00000312506:K503M	K	-	2	0	CSPG4	73768953	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.862000	0.62976	1.923000	0.55706	0.454000	0.30748	AAG	CSPG4	-	NULL		0.652	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	T	NM_001897		75981898	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75981898	T	A	75981898	3	1	58	1	0	0	0	0	1	0	0	0	3965	1609	56	5	5492	5	CSPG4	15	75981898	Missense_Mutation	SNP	T	TCGA-DR-A0ZM-01A-12D-A10S-08	1561	75981898	26549494	991	8741										
TBC1D2B	23102	genome.wustl.edu	37	chr15	78305568	78305568	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggttttctgtgaggtagaGagtcttcagatccaacgcgc	12	9	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:78305568G>C	ENST00000300584.3	-	9	1866	c.1867C>G	c.(1867-1869)Ctc>Gtc	p.L623V	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L623V	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	623							Rab GTPase activator activity (GO:0005097)	p.L623V(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTGAGGTAGAGAGTCTTCAGA	0.448																																																	2	Substitution - Missense(2)	cervix(2)											73	72	72					15																	78305568		2196	4293	6489	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1867C>G	15.37:g.78305568G>C	ENSP00000300584:p.Leu623Val		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L623V	ENST00000300584.3	37	c.1867	CCDS45314.1	15	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849816	0.32699	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.09538	2.97;2.98	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	L	0.44542	1.39	0.58432	D	0.999999	D;B;D	0.76494	0.999;0.216;0.999	D;B;D	0.78314	0.962;0.108;0.991	T	0.10042	-1.0647	10	0.11182	T	0.66	.	9.7382	0.40401	0.1562:0.0:0.8438:0.0	.	623;75;623	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	V	623	ENSP00000387165:L623V;ENSP00000300584:L623V	ENSP00000300584:L623V	L	-	1	0	TBC1D2B	76092623	0.998000	0.40836	0.074000	0.20217	0.128000	0.20619	2.676000	0.46883	1.444000	0.47605	0.655000	0.94253	CTC	TBC1D2B	-	NULL		0.448	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	G	NM_015079		78305568	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	0.968	C	C	78305568	G	C	78305568	3	2	58	1	0	0	0	0	1	0	0	0	15649	942	33	1	1044	1	TBC1D2B	15	78305568	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2323670	78305568	24225824	992	8742										
EFTUD1	79631	genome.wustl.edu	37	chr15	82533678	82533678	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacaaatgcgaacagcggttGatacttctgaggaaaagtcc	10	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:82533678G>C	ENST00000268206.7	-	5	479	c.311C>G	c.(310-312)tCa>tGa	p.S104*	EFTUD1_ENST00000359445.3_Nonsense_Mutation_p.S53*	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	104	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.S104*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AACAGCGGTTGATACTTCTGA	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											88	79	82					15																	82533678		1923	4131	6054	SO:0001587	stop_gained	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.311C>G	15.37:g.82533678G>C	ENSP00000268206:p.Ser104*		A6NKY5|B7Z6I0|Q9H8Z6	Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.S104*	ENST00000268206.7	37	c.311	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256715	0.80246	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	.	.	.	4.31	4.31	0.51392	.	0.000000	0.50627	U	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4882	16.302	0.82825	0.0:0.0:1.0:0.0	.	.	.	.	X	104;53	.	ENSP00000268206:S104X	S	-	2	0	EFTUD1	80320733	1.000000	0.71417	0.111000	0.21465	0.963000	0.63663	9.364000	0.97136	2.376000	0.81061	0.404000	0.27445	TCA	EFTUD1	-	pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.403	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	G	NM_024580		82533678	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	nonsense	SNP	0.995	C	C	82533678	G	C	82533678	4	2	58	1	0	0	0	0	0	1	0	0	4970	1294	45	1	3115	1	EFTUD1	15	82533678	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4228110	82533678	19997714	993	8743										
WDR73	84942	genome.wustl.edu	37	chr15	85191128	85191128	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaattcactcaccactgtcCtctgcaacctgccacacctg	4	18	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:85191128C>G	ENST00000434634.2	-	5	405	c.345G>C	c.(343-345)gaG>gaC	p.E115D	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	115								p.E115D(1)		cervix(1)|large_intestine(1)|lung(1)	3						CACCACTGTCCTCTGCAACCT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											104	107	106					15																	85191128		1964	4164	6128	SO:0001583	missense	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.345G>C	15.37:g.85191128C>G	ENSP00000387982:p.Glu115Asp		Q96JZ1|Q9P0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E115D	ENST00000434634.2	37	c.345	CCDS45339.1	15	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385120	0.25031	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.49720	0.77	4.96	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.372366	0.30584	N	0.009302	T	0.57592	0.2064	L	0.59436	1.845	0.42957	D	0.994396	D;D	0.71674	0.974;0.998	P;D	0.77557	0.808;0.99	T	0.55360	-0.8153	10	0.46703	T	0.11	-2.3472	6.7243	0.23348	0.0:0.7113:0.0:0.2887	.	115;115	B4DI20;Q6P4I2	.;WDR73_HUMAN	D	123;115	ENSP00000387982:E115D	ENSP00000381539:E123D	E	-	3	2	WDR73	82992132	0.999000	0.42202	1.000000	0.80357	0.818000	0.46254	0.623000	0.24447	0.773000	0.33404	0.563000	0.77884	GAG	WDR73	-	superfamily_WD40_repeat_dom		0.483	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR73	HGNC	protein_coding	OTTHUMT00000418195.1	C	NM_032856		85191128	-1	no_errors	ENST00000434634	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85191128	C	G	85191128	3	3	58	1	0	0	0	0	1	0	0	0	17354	680	24	4	807	4	WDR73	15	85191128	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2657450	85191128	17340264	994	8744										
ACAN	176	genome.wustl.edu	37	chr15	89391202	89391202	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggacagcagcccaggggtCaggacctatggcgtgcgccc	15	13	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:89391202C>T	ENST00000561243.1	+	8	1665	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V	ACAN_ENST00000558207.1_Silent_p.V555V|ACAN_ENST00000352105.7_Silent_p.V555V|ACAN_ENST00000439576.2_Silent_p.V555V|ACAN_ENST00000559004.1_Silent_p.V555V			P16112	PGCA_HUMAN	aggrecan	555	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V555V(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCCAGGGGTCAGGACCTATG	0.567																																																	2	Substitution - coding silent(2)	cervix(2)											103	109	107					15																	89391202		1985	4156	6141	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1665C>T	15.37:g.89391202C>T			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.V555	ENST00000561243.1	37	c.1665	CCDS53970.1	15																																																																																			ACAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	C	NM_001135		89391202	1	no_errors	ENST00000439576	ensembl	human	known	70_37	silent	SNP	0.962	T	T	89391202	C	T	89391202	2	4	58	1	0	0	0	0	0	0	0	1	117	813	29	1		1	ACAN	15	89391202	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4200074	89391202	13140190	995	8745										
POLG	5428	genome.wustl.edu	37	chr15	89862178	89862178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atacctcttcctggacagccGagggctccagggctcggctg	13	14	1	0	rs373316463		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:89862178G>A	ENST00000268124.5	-	20	3590	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	POLG_ENST00000442287.2_Missense_Mutation_p.S1086L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1086					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.S1086L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGGACAGCCGAGGGCTCCAG	0.572								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												1	Substitution - Missense(1)	cervix(1)											63	60	61					15																	89862178		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3257C>T	15.37:g.89862178G>A	ENSP00000268124:p.Ser1086Leu		Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.S1086L	ENST00000268124.5	37	c.3257	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009782	0.35415	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.97041	-4.22;-4.22	5.35	3.45	0.39498	DNA-directed DNA polymerase, family A, palm domain (2);	0.562013	0.18735	N	0.132637	D	0.92545	0.7632	L	0.33485	1.01	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	D	0.83673	0.0167	10	0.33940	T	0.23	-1.9045	15.8947	0.79325	0.0:0.256:0.744:0.0	.	1086	P54098	DPOG1_HUMAN	L	1086	ENSP00000268124:S1086L;ENSP00000399851:S1086L	ENSP00000268124:S1086L	S	-	2	0	POLG	87663182	0.076000	0.21285	0.106000	0.21319	0.932000	0.56968	2.437000	0.44828	0.808000	0.34231	0.655000	0.94253	TCG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.572	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	G	NM_002693		89862178	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	missense	SNP	0.004	A	A	89862178	G	A	89862178	3	1	58	1	0	0	0	0	1	0	0	0	12224	1059	37	1	478	1	POLG	15	89862178	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	470976	89862178	12669214	996	8746										
ANPEP	290	genome.wustl.edu	37	chr15	90349434	90349434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctggctgagggtgtagttGagcttcttgctgtggatgat	15	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:90349434G>A	ENST00000300060.6	-	2	694	c.381C>T	c.(379-381)ctC>ctT	p.L127L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	127	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.L127L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGGTGTAGTTGAGCTTCTTGC	0.607																																					NSCLC(30;827 977 2459 19669 26125)												1	Substitution - coding silent(1)	cervix(1)											91	76	81					15																	90349434		2200	4299	6499	SO:0001819	synonymous_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.381C>T	15.37:g.90349434G>A			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L127	ENST00000300060.6	37	c.381	CCDS10356.1	15																																																																																			ANPEP	-	pfam_Peptidase_M1_N		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	G			90349434	-1	no_errors	ENST00000300060	ensembl	human	known	70_37	silent	SNP	1.000	A	A	90349434	G	A	90349434	2	1	58	1	0	0	0	0	0	0	0	1	710	1277	45	1		1	ANPEP	15	90349434	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	487256	90349434	12181958	997	8747										
BLM	641	genome.wustl.edu	37	chr15	91304065	91304065	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaccaggaagaatctttttGaaaggcctttattcaatacc	6	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:91304065G>C	ENST00000355112.3	+	7	1580	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q	BLM_ENST00000560509.1_Missense_Mutation_p.E488Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	488	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.E488Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATCTTTTTGAAAGGCCTTT	0.408			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	cervix(1)											74	80	78					15																	91304065		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1462G>C	15.37:g.91304065G>C	ENSP00000347232:p.Glu488Gln		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E488Q	ENST00000355112.3	37	c.1462	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364789	0.41902	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.54071	0.59	5.83	4.91	0.64330	.	0.330605	0.29572	N	0.011762	T	0.55337	0.1914	L	0.36672	1.1	0.27463	N	0.95309	D;P;D	0.67145	0.996;0.919;0.996	P;B;P	0.58331	0.837;0.401;0.837	T	0.49835	-0.8897	10	0.36615	T	0.2	-14.9427	10.6316	0.45541	0.0879:0.0:0.9121:0.0	.	488;113;488	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	488;141	ENSP00000347232:E488Q	ENSP00000347232:E488Q	E	+	1	0	BLM	89105069	1.000000	0.71417	0.387000	0.26183	0.014000	0.08584	4.474000	0.60203	1.465000	0.48006	0.591000	0.81541	GAA	BLM	-	NULL		0.408	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	G			91304065	1	no_errors	ENST00000355112	ensembl	human	known	70_37	missense	SNP	0.947	C	C	91304065	G	C	91304065	3	2	58	1	0	0	0	0	1	0	0	0	1446	1291	45	1	1484	1	BLM	15	91304065	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	954631	91304065	11227327	998	8748										
SLCO3A1	28232	genome.wustl.edu	37	chr15	92459366	92459366	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcgggcaccggccgcgcctGatcggctgcggcggcatcgt	17	16	0	1	rs370591300		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:92459366G>C	ENST00000318445.6	+	2	538	c.324G>C	c.(322-324)ctG>ctC	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCCGCGCCTGATCGGCTGCG	0.682																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											21	18	19					15																	92459366		2075	4073	6148	SO:0001819	synonymous_variant	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.324G>C	15.37:g.92459366G>C			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L108	ENST00000318445.6	37	c.324	CCDS10371.1	15																																																																																			SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.682	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	G	NM_013272		92459366	1	no_errors	ENST00000318445	ensembl	human	known	70_37	silent	SNP	1.000	C	C	92459366	G	C	92459366	2	2	58	1	0	0	0	0	0	0	0	1	14758	1277	45	1		1	SLCO3A1	15	92459366	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1155301	92459366	10072026	999	8749										
PCSK6	5046	genome.wustl.edu	37	chr15	101971654	101971654	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccgaccggcagcgactgttCttgtcgccacaatgctgtaa	10	13	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:101971654C>G	ENST00000348070.1	-	5	524	c.525G>C	c.(523-525)aaG>aaC	p.K175N	PCSK6_ENST00000358417.3_Missense_Mutation_p.K175N|PCSK6_ENST00000331826.7_Missense_Mutation_p.K10N|PCSK6_ENST00000398181.2_Missense_Mutation_p.K175N|PCSK6_ENST00000344273.2_Missense_Mutation_p.K175N|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	176					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.K175N(3)|p.K10N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCGACTGTTCTTGTCGCCAC	0.547																																																	4	Substitution - Missense(4)	cervix(4)											59	60	60					15																	101971654		2111	4234	6345	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.525G>C	15.37:g.101971654C>G	ENSP00000305056:p.Lys175Asn		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.K175N	ENST00000348070.1	37	c.525		15	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156319	0.38021	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.70282	0.97;0.97;0.97;0.97;-0.47	5.67	3.78	0.43462	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.114831	0.56097	D	0.000039	T	0.37625	0.1010	N	0.01019	-1.045	0.32208	N	0.57696	P;B;B;B;B;B;P;B;B	0.36282	0.546;0.361;0.0;0.008;0.001;0.004;0.493;0.007;0.007	B;B;B;B;B;B;B;B;B	0.39379	0.136;0.156;0.002;0.006;0.002;0.002;0.298;0.013;0.004	T	0.51116	-0.8746	10	0.07813	T	0.8	-28.3246	9.2734	0.37686	0.0:0.7162:0.0:0.2838	.	176;81;175;176;175;175;176;176;175	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	N	175;175;80;175;175;10	ENSP00000305056:K175N;ENSP00000351193:K175N;ENSP00000344410:K175N;ENSP00000381243:K175N;ENSP00000332052:K10N	ENSP00000332052:K10N	K	-	3	2	PCSK6	99789177	0.983000	0.35010	0.999000	0.59377	0.983000	0.72400	0.369000	0.20416	1.412000	0.46977	0.655000	0.94253	AAG	PCSK6	-	superfamily_Peptidase_S8/S53		0.547	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		C	NM_002570		101971654	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	missense	SNP	0.893	G	G	101971654	C	G	101971654	3	3	58	1	0	0	0	0	1	0	0	0	11628	912	32	1	2936	1	PCSK6	15	101971654	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9512288	101971654	559738	1000	8750										
TMEM204	79652	genome.wustl.edu	37	chr16	1591971	1591971	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtggccacggccgcgctCaccgcaggccagctcacctt	12	18	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:1591971C>A	ENST00000566264.1	+	2	1033	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMEM204_ENST00000253934.5_Silent_p.L110L|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	110					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L110L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CGGCCGCGCTCACCGCAGGCC	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											28	34	32					16																	1591971		2159	4247	6406	SO:0001819	synonymous_variant	79652				CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.330C>A	16.37:g.1591971C>A			D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	NULL	p.L110	ENST00000566264.1	37	c.330	CCDS42098.1	16																																																																																			TMEM204	-	NULL		0.687	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM204	HGNC	protein_coding	OTTHUMT00000432610.1	C	NM_024600		1591971	1	no_errors	ENST00000253934	ensembl	human	known	70_37	silent	SNP	0.151	A	A	1591971	C	A	1591971	2	1	58	1	0	0	0	0	0	0	0	1	16159	813	29	3		3	TMEM204	16	1591971	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		1591971	88762782	1001	8751										
PKD1	5310	genome.wustl.edu	37	chr16	2164353	2164353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taccactgagaacagggtatCgttggtctcccaggggcagc	13	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:2164353C>T	ENST00000262304.4	-	11	2879	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N	PKD1_ENST00000423118.1_Missense_Mutation_p.D891N|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	891	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D891N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AACAGGGTATCGTTGGTCTCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											28	22	24					16																	2164353		2187	4285	6472	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2671G>A	16.37:g.2164353C>T	ENSP00000262304:p.Asp891Asn		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.D891N	ENST00000262304.4	37	c.2671	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	6.241	0.412554	0.11812	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.40225	1.04;1.04	4.96	-2.11	0.07187	Polycystin cation channel (1);	0.802936	0.11414	N	0.566475	T	0.25005	0.0607	L	0.29908	0.895	0.09310	N	1	B;B	0.22276	0.067;0.039	B;B	0.11329	0.006;0.004	T	0.14008	-1.0488	10	0.32370	T	0.25	.	6.4649	0.21975	0.0:0.5472:0.1142:0.3386	.	891;891	P98161-3;P98161	.;PKD1_HUMAN	N	891	ENSP00000262304:D891N;ENSP00000399501:D891N	ENSP00000262304:D891N	D	-	1	0	PKD1	2104354	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.210000	0.09345	-0.720000	0.04935	0.450000	0.29827	GAT	PKD1	-	pfam_PKD_dom,tigrfam_Polycystin_cat		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2164353	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2164353	C	T	2164353	3	4	58	1	0	0	0	0	1	0	0	0	11987	884	31	1	10384	1	PKD1	16	2164353	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	572382	2164353	88190400	1002	8752										
CASKIN1	57524	genome.wustl.edu	37	chr16	2236729	2236729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgctcgcttgacaatggcctCgcccagggaggacgggaagt	15	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:2236729C>T	ENST00000343516.6	-	10	1119	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	343	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.E172K(2)|p.E343K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACAATGGCCTCGCCCAGGGAG	0.672																																																	4	Substitution - Missense(4)	cervix(2)|prostate(2)											34	38	37					16																	2236729		1994	4151	6145	SO:0001583	missense	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1027G>A	16.37:g.2236729C>T	ENSP00000345436:p.Glu343Lys		Q9P2P0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.E343K	ENST00000343516.6	37	c.1027	CCDS42103.1	16	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206620	0.79127	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.19394	2.15	4.65	4.65	0.58169	Src homology-3 domain (3);	.	.	.	.	T	0.41766	0.1173	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26326	-1.0106	9	0.72032	D	0.01	-34.8267	16.6164	0.84917	0.0:1.0:0.0:0.0	.	343	Q8WXD9	CSKI1_HUMAN	K	343;172	ENSP00000345436:E343K	ENSP00000345436:E343K	E	-	1	0	CASKIN1	2176730	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.543000	0.82106	2.577000	0.86979	0.563000	0.77884	GAG	CASKIN1	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	C	NM_020764		2236729	-1	no_errors	ENST00000343516	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2236729	C	T	2236729	3	4	58	1	0	0	0	0	1	0	0	0	2671	893	31	1	3312	1	CASKIN1	16	2236729	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	72376	2236729	88118024	1003	8753										
SRRM2	23524	genome.wustl.edu	37	chr16	2808478	2808478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catttttccctagccttgttCgggagtctagcagttctcgc	9	12	2	0	rs199835386		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:2808478C>T	ENST00000301740.8	+	5	1072	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	175					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R175W(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TAGCCTTGTTCGGGAGTCTAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)						C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	171	176	174		523	4.2	0.9	16		174	1,8599	2.2+/-6.3	0,1,4299	yes	missense	SRRM2	NM_016333.3	101	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	175/2753	2808478	2,12994	2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.523C>T	16.37:g.2808478C>T	ENSP00000301740:p.Arg175Trp		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R175W	ENST00000301740.8	37	c.523	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832789	0.50951	2.27E-4	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.28255	1.62	5.15	4.18	0.49190	.	0.000000	0.47852	D	0.000203	T	0.41419	0.1158	L	0.39245	1.2	0.30248	N	0.794348	D	0.89917	1.0	D	0.66979	0.948	T	0.39840	-0.9594	10	0.87932	D	0	-4.1567	8.6627	0.34101	0.1727:0.6605:0.1668:0.0	.	175	Q9UQ35	SRRM2_HUMAN	W	175;175;79;140	ENSP00000301740:R175W	ENSP00000301740:R175W	R	+	1	2	SRRM2	2748479	0.638000	0.27225	0.903000	0.35520	0.943000	0.58893	1.363000	0.34159	1.127000	0.42034	0.650000	0.86243	CGG	SRRM2	-	NULL		0.388	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2808478	1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.919	T	T	2808478	C	T	2808478	3	4	58	1	0	0	0	0	1	0	0	0	15199	875	31	1	537	1	SRRM2	16	2808478	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	571749	2808478	87546275	1004	8754										
ZNF434	54925	genome.wustl.edu	37	chr16	3433401	3433401	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgagatactttttccagtttGagcgctggcttgtggggaga	14	6	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:3433401G>C	ENST00000396852.4	-	7	1852	c.1545C>G	c.(1543-1545)ctC>ctG	p.L515L	ZSCAN32_ENST00000439568.2_Silent_p.L226L|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000304926.3_Silent_p.L303L|ZSCAN32_ENST00000396846.3_Silent_p.L515L	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	515					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L303L(1)									TTTCCAGTTTGAGCGCTGGCT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											73	69	70					16																	3433401		2197	4300	6497	SO:0001819	synonymous_variant	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1545C>G	16.37:g.3433401G>C			B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L515	ENST00000396852.4	37	c.1545		16																																																																																			ZNF434	-	NULL		0.478	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	G	NM_017810		3433401	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	silent	SNP	0.000	C	C	3433401	G	C	3433401	2	2	58	1	0	0	0	0	0	0	0	1	17938	1277	45	1		1	ZNF434	16	3433401	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	624923	3433401	86921352	1005	8755										
CREBBP	1387	genome.wustl.edu	37	chr16	3900459	3900459	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctctgccagcagccccaaGagatccattcatgacttgcg	8	15	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:3900459G>A	ENST00000262367.5	-	2	1446	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CREBBP_ENST00000382070.3_Missense_Mutation_p.L213F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	213					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L213F(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGCCCCAAGAGATCCATTC	0.562			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)											96	91	93					16																	3900459		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.637C>T	16.37:g.3900459G>A	ENSP00000262367:p.Leu213Phe		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.L213F	ENST00000262367.5	37	c.637	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699941	0.48307	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84730	-1.89;-1.88	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000005	D	0.87553	0.6206	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.64687	0.92;0.928	D	0.87042	0.2141	10	0.51188	T	0.08	-21.726	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	281;213	Q4LE28;Q92793	.;CBP_HUMAN	F	213;281;213	ENSP00000262367:L213F;ENSP00000371502:L213F	ENSP00000262367:L213F	L	-	1	0	CREBBP	3840460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.352000	0.52239	2.861000	0.98227	0.650000	0.86243	CTT	CREBBP	-	NULL		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900459	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3900459	G	A	3900459	3	1	58	1	0	0	0	0	1	0	0	0	3866	942	33	1	6811	1	CREBBP	16	3900459	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	467058	3900459	86454294	1006	8756										
GLIS2	84662	genome.wustl.edu	37	chr16	4383413	4383413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcagcagcccctctcgtgGacctcagcctgtcaccacca	7	18	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:4383413G>C	ENST00000262366.3	+	4	1059	c.238G>C	c.(238-240)Gac>Cac	p.D80H	GLIS2_ENST00000433375.1_Missense_Mutation_p.D80H|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	80	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.D80H(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCTCGTGGACCTCAGCCT	0.647																																																	1	Substitution - Missense(1)	cervix(1)											43	35	38					16																	4383413		2196	4299	6495	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.238G>C	16.37:g.4383413G>C	ENSP00000262366:p.Asp80His		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D80H	ENST00000262366.3	37	c.238	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211470	0.79240	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.13307	2.6;2.6	4.83	4.83	0.62350	.	0.121997	0.52532	D	0.000066	T	0.26048	0.0635	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.01874	-1.1256	10	0.54805	T	0.06	.	15.5005	0.75695	0.0:0.0:1.0:0.0	.	80	Q9BZE0	GLIS2_HUMAN	H	80	ENSP00000262366:D80H;ENSP00000395547:D80H	ENSP00000262366:D80H	D	+	1	0	GLIS2	4323414	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	6.763000	0.74955	2.241000	0.73720	0.485000	0.47835	GAC	GLIS2	-	NULL		0.647	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	G	NM_032575		4383413	1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4383413	G	C	4383413	3	2	58	1	0	0	0	0	1	0	0	0	6465	1174	41	1	244	1	GLIS2	16	4383413	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	482954	4383413	85971340	1007	8757										
GLIS2	84662	genome.wustl.edu	37	chr16	4383476	4383476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagcagctcgctgtcccccGagcgccagggcaacggggac	15	16	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:4383476G>A	ENST00000262366.3	+	4	1122	c.301G>A	c.(301-303)Gag>Aag	p.E101K	GLIS2_ENST00000433375.1_Missense_Mutation_p.E101K|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	101	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.E101K(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTGTCCCCCGAGCGCCAGGG	0.657																																																	1	Substitution - Missense(1)	cervix(1)											21	20	20					16																	4383476		2195	4298	6493	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.301G>A	16.37:g.4383476G>A	ENSP00000262366:p.Glu101Lys		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E101K	ENST00000262366.3	37	c.301	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667195	0.67814	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.13420	2.59;2.59	4.83	4.83	0.62350	.	0.064399	0.64402	D	0.000013	T	0.21801	0.0525	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.04103	-1.0977	10	0.35671	T	0.21	.	15.5005	0.75695	0.0:0.0:1.0:0.0	.	101	Q9BZE0	GLIS2_HUMAN	K	101	ENSP00000262366:E101K;ENSP00000395547:E101K	ENSP00000262366:E101K	E	+	1	0	GLIS2	4323477	1.000000	0.71417	0.951000	0.38953	0.600000	0.36913	6.462000	0.73526	2.241000	0.73720	0.485000	0.47835	GAG	GLIS2	-	NULL		0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	G	NM_032575		4383476	1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	0.995	A	A	4383476	G	A	4383476	3	1	58	1	0	0	0	0	1	0	0	0	6465	1059	37	1	307	1	GLIS2	16	4383476	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	63	4383476	85971277	1008	8758										
CORO7	79585	genome.wustl.edu	37	chr16	4412623	4412623	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctccttacccagcaggctCtgcagcgacctcaaactggg	10	16	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:4412623C>G	ENST00000251166.4	-	15	1537	c.1392G>C	c.(1390-1392)caG>caC	p.Q464H	CORO7_ENST00000539968.1_Missense_Mutation_p.Q244H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.Q464H|CORO7_ENST00000574025.1_Missense_Mutation_p.Q379H|CORO7_ENST00000537233.2_Missense_Mutation_p.Q446H|CORO7_ENST00000423908.2_Missense_Mutation_p.Q296H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	464					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.Q464H(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGCAGGCTCTGCAGCGACC	0.672																																																	1	Substitution - Missense(1)	cervix(1)											61	57	59					16																	4412623		2197	4299	6496	SO:0001583	missense	100529144			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1392G>C	16.37:g.4412623C>G	ENSP00000251166:p.Gln464His		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q464H	ENST00000251166.4	37	c.1392	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319392	0.23994	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.67698	-0.28;-0.28;-0.28	5.07	-0.766	0.11020	.	0.350341	0.18912	U	0.127731	T	0.63117	0.2484	N	0.25890	0.77	0.28372	N	0.919948	P;D;B;D;B;B	0.71674	0.547;0.996;0.075;0.998;0.031;0.075	B;D;B;D;B;B	0.79784	0.245;0.986;0.042;0.993;0.014;0.042	T	0.55939	-0.8061	10	0.31617	T	0.26	-17.61	5.4047	0.16314	0.0:0.4049:0.2415:0.3536	.	379;446;244;244;464;445	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	H	464;379;244;296	ENSP00000251166:Q464H;ENSP00000446221:Q244H;ENSP00000391530:Q296H	ENSP00000251166:Q464H	Q	-	3	2	CORO7	4352624	0.916000	0.31088	0.990000	0.47175	0.336000	0.28762	-0.203000	0.09438	-0.098000	0.12285	0.555000	0.69702	CAG	CORO7-PAM16	-	NULL		0.672	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	C	NM_024535		4412623	-1	no_errors	ENST00000572467	ensembl	human	known	70_37	missense	SNP	0.990	G	G	4412623	C	G	4412623	3	3	58	1	0	0	0	0	1	0	0	0	3764	912	32	1	1441	1	CORO7	16	4412623	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	29147	4412623	85942130	1009	8759										
SEC14L5	9717	genome.wustl.edu	37	chr16	5058617	5058617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attacagccgtgtggaggctCcccttgtctgccgggagggg	16	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:5058617C>G	ENST00000251170.7	+	14	1948	c.1768C>G	c.(1768-1770)Ccc>Gcc	p.P590A	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	590	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.P590A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGTGGAGGCTCCCCTTGTCTG	0.657																																																	1	Substitution - Missense(1)	cervix(1)											44	52	49					16																	5058617		1936	4131	6067	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1768C>G	16.37:g.5058617C>G	ENSP00000251170:p.Pro590Ala			Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.P590A	ENST00000251170.7	37	c.1768	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	c	9.654	1.142465	0.21205	.	.	ENSG00000103184	ENST00000251170	T	0.41065	1.01	4.75	3.8	0.43715	GOLD (2);	0.075907	0.53938	D	0.000046	T	0.39989	0.1099	M	0.62723	1.935	0.41551	D	0.988577	B	0.19706	0.038	B	0.15870	0.014	T	0.30592	-0.9973	10	0.36615	T	0.2	-1.5476	12.8023	0.57593	0.0:0.9211:0.0:0.0789	.	590	O43304	S14L5_HUMAN	A	590	ENSP00000251170:P590A	ENSP00000251170:P590A	P	+	1	0	SEC14L5	4998618	0.580000	0.26733	0.178000	0.23040	0.650000	0.38633	1.294000	0.33365	1.234000	0.43709	0.556000	0.70494	CCC	SEC14L5	-	superfamily_GOLD,pfscan_GOLD		0.657	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	C			5058617	1	no_errors	ENST00000251170	ensembl	human	known	70_37	missense	SNP	0.803	G	G	5058617	C	G	5058617	3	3	58	1	0	0	0	0	1	0	0	0	14015	855	30	1	1818	1	SEC14L5	16	5058617	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	645994	5058617	85296136	1010	8760										
ALG1	56052	genome.wustl.edu	37	chr16	5134874	5134874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtgctccctttggttatgGacacataactcctgggccag	10	12	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:5134874G>A	ENST00000262374.5	+	13	1418	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	ALG1_ENST00000544428.1_Missense_Mutation_p.D352N|FAM86A_ENST00000427587.4_3'UTR|ALG1_ENST00000588623.1_Missense_Mutation_p.D352N|FAM86A_ENST00000458008.4_3'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	463					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.D463N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TTTGGTTATGGACACATAACT	0.587																																																	1	Substitution - Missense(1)	cervix(1)											25	30	28					16																	5134874		1351	2304	3655	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1387G>A	16.37:g.5134874G>A	ENSP00000262374:p.Asp463Asn		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.D463N	ENST00000262374.5	37	c.1387	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998277	0.35226	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.77750	-1.1;-1.12	4.52	2.26	0.28386	.	0.809600	0.11422	N	0.565675	T	0.66066	0.2752	L	0.36672	1.1	0.47123	D	0.999322	P;P	0.38922	0.501;0.651	B;B	0.30401	0.058;0.115	T	0.61850	-0.6978	10	0.29301	T	0.29	-9.6807	14.5689	0.68200	0.0:0.3717:0.6283:0.0	.	352;463	B4DP08;Q9BT22	.;ALG1_HUMAN	N	463;352	ENSP00000262374:D463N;ENSP00000440019:D352N	ENSP00000262374:D463N	D	+	1	0	ALG1	5074875	0.939000	0.31865	0.148000	0.22405	0.042000	0.13812	1.376000	0.34306	0.988000	0.38734	0.455000	0.32223	GAC	ALG1	-	NULL		0.587	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	G	NM_019109		5134874	1	no_errors	ENST00000262374	ensembl	human	known	70_37	missense	SNP	0.264	A	A	5134874	G	A	5134874	3	1	58	1	0	0	0	0	1	0	0	0	510	1174	41	1	1437	1	ALG1	16	5134874	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	76257	5134874	85219879	1011	8761										
CPPED1	55313	genome.wustl.edu	37	chr16	12798556	12798556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtagtagtcgtcgtcctcgtCgatgctctccaggaacagcg	12	12	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:12798556C>T	ENST00000381774.4	-	3	880	c.640G>A	c.(640-642)Gac>Aac	p.D214N	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	214	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.D214N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCGTCCTCGTCGATGCTCTCC	0.602																																																	1	Substitution - Missense(1)	cervix(1)											94	96	95					16																	12798556		2126	4256	6382	SO:0001583	missense	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.640G>A	16.37:g.12798556C>T	ENSP00000371193:p.Asp214Asn		B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.D214N	ENST00000381774.4	37	c.640	CCDS42120.1	16	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457002	0.26161	.	.	ENSG00000103381	ENST00000381774	T	0.70869	-0.52	5.32	4.36	0.52297	Metallophosphoesterase domain (1);	0.386702	0.32273	N	0.006330	T	0.63141	0.2486	L	0.48877	1.53	0.58432	D	0.999993	B	0.25312	0.123	B	0.24701	0.055	T	0.62872	-0.6762	10	0.45353	T	0.12	-15.2397	12.1231	0.53903	0.0:0.9144:0.0:0.0856	.	214	Q9BRF8	CPPED_HUMAN	N	214	ENSP00000371193:D214N	ENSP00000371193:D214N	D	-	1	0	CPPED1	12706057	0.953000	0.32496	0.021000	0.16686	0.006000	0.05464	3.000000	0.49481	2.486000	0.83907	0.650000	0.86243	GAC	CPPED1	-	pfam_Metallo_PEstase_dom		0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPPED1	HGNC	protein_coding	OTTHUMT00000395795.2	C	NM_018340		12798556	-1	no_errors	ENST00000381774	ensembl	human	known	70_37	missense	SNP	0.235	T	T	12798556	C	T	12798556	3	4	58	1	0	0	0	0	1	0	0	0	3827	884	31	1	312	1	CPPED1	16	12798556	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	7663682	12798556	77556197	1012	8762										
ABCC6	368	genome.wustl.edu	37	chr16	16255325	16255325	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagagacagagaagcccacGaggccagcactgaggtgggc	16	11	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:16255325G>C	ENST00000205557.7	-	25	3632	c.3603C>G	c.(3601-3603)ctC>ctG	p.L1201L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1201	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	p.L1201L(1)		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)	AGAAGCCCACGAGGCCAGCAC	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67	62	64					16																	16255325		2197	4300	6497	SO:0001819	synonymous_variant	368			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.3603C>G	16.37:g.16255325G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L1201	ENST00000205557.7	37	c.3603	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16255325	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	1.000	C	C	16255325	G	C	16255325	2	2	58	1	0	0	0	0	0	0	0	1	57	1045	37	1		1	ABCC6	16	16255325	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3456769	16255325	74099428	1013	8763										
ABCC6	368	genome.wustl.edu	37	chr16	16282745	16282745	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgggccttgttgaggatgttGagaactgtgagagtcacaaa	14	5	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:16282745G>C	ENST00000205557.7	-	13	1751	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	574	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	p.L574L(1)		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)	TGAGGATGTTGAGAACTGTGA	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											101	88	92					16																	16282745		2197	4300	6497	SO:0001819	synonymous_variant	368			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.1722C>G	16.37:g.16282745G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L574	ENST00000205557.7	37	c.1722	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.587	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16282745	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	0.999	C	C	16282745	G	C	16282745	2	2	58	1	0	0	0	0	0	0	0	1	57	1277	45	1		1	ABCC6	16	16282745	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	27420	16282745	74072008	1014	8764										
SCNN1G	6340	genome.wustl.edu	37	chr16	23224211	23224211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acaatggccatctgtggtttCggaggtaagttcttctgccc	11	10	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:23224211C>T	ENST00000300061.2	+	10	1570	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	476					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.S476L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTGTGGTTTCGGAGGTAAGT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											75	68	70					16																	23224211		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1427C>T	16.37:g.23224211C>T	ENSP00000300061:p.Ser476Leu		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S476L	ENST00000300061.2	37	c.1427	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860763	0.71834	.	.	ENSG00000166828	ENST00000300061	T	0.64618	-0.11	4.88	4.88	0.63580	.	0.201146	0.35615	N	0.003083	T	0.76863	0.4047	M	0.70275	2.135	0.49687	D	0.999813	D	0.89917	1.0	D	0.69479	0.964	T	0.80118	-0.1516	10	0.87932	D	0	-22.7814	14.758	0.69583	0.0:1.0:0.0:0.0	.	476	P51170	SCNNG_HUMAN	L	476	ENSP00000300061:S476L	ENSP00000300061:S476L	S	+	2	0	SCNN1G	23131712	0.999000	0.42202	0.643000	0.29450	0.606000	0.37113	5.417000	0.66423	2.243000	0.73865	0.561000	0.74099	TCG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	C	NM_001039		23224211	1	no_errors	ENST00000300061	ensembl	human	known	70_37	missense	SNP	0.968	T	T	23224211	C	T	23224211	3	4	58	1	0	0	0	0	1	0	0	0	13960	893	31	1	1461	1	SCNN1G	16	23224211	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6941466	23224211	67130542	1015	8765										
XPO6	23214	genome.wustl.edu	37	chr16	28192332	28192332	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcagactttccaatgccctGagagaggcttcttcagatgc	9	11	3	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:28192332G>C	ENST00000304658.5	-	2	524	c.24C>G	c.(22-24)ctC>ctG	p.L8L	Y_RNA_ENST00000363268.1_RNA|XPO6_ENST00000565698.1_5'UTR|SNORA25_ENST00000363782.1_RNA	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	8					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L8L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CCAATGCCCTGAGAGAGGCTT	0.388																																																	2	Substitution - coding silent(2)	cervix(2)											79	68	71					16																	28192332		1807	4085	5892	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.24C>G	16.37:g.28192332G>C			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L8	ENST00000304658.5	37	c.24	CCDS42135.1	16																																																																																			XPO6	-	superfamily_ARM-type_fold		0.388	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	G	XM_055195		28192332	-1	no_errors	ENST00000304658	ensembl	human	known	70_37	silent	SNP	1.000	C	C	28192332	G	C	28192332	2	2	58	1	0	0	0	0	0	0	0	1	17479	1277	45	1		1	XPO6	16	28192332	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4968121	28192332	62162421	1016	8766										
SEZ6L2	26470	genome.wustl.edu	37	chr16	29883830	29883830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccttccagctgccgtgatgGatctgtggtctgggtcacta	12	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:29883830G>T	ENST00000308713.5	-	15	3033	c.2506C>A	c.(2506-2508)Cca>Aca	p.P836T	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P735T|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P779T|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P805T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	836					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P779T(1)|p.P836S(1)|p.P836T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCGTGATGGATCTGTGGTC	0.632																																																	3	Substitution - Missense(3)	cervix(2)|large_intestine(1)											70	79	76					16																	29883830		2197	4300	6497	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2506C>A	16.37:g.29883830G>T	ENSP00000312550:p.Pro836Thr		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P836T	ENST00000308713.5	37	c.2506	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617715	0.46736	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.30714	1.55;1.67;1.52;1.52	5.26	4.3	0.51218	.	0.124368	0.36740	N	0.002429	T	0.45677	0.1354	L	0.44542	1.39	0.47659	D	0.999482	B;D;D;D;D;D	0.76494	0.178;0.988;0.988;0.998;0.97;0.999	B;P;P;D;P;D	0.67382	0.108;0.761;0.761;0.929;0.683;0.951	T	0.36089	-0.9762	10	0.45353	T	0.12	.	14.8027	0.69926	0.0:0.1454:0.8546:0.0	.	805;849;735;766;836;779	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	T	779;836;735;805	ENSP00000310206:P779T;ENSP00000312550:P836T;ENSP00000319215:P735T;ENSP00000439412:P805T	ENSP00000312550:P836T	P	-	1	0	SEZ6L2	29791331	1.000000	0.71417	0.970000	0.41538	0.917000	0.54804	2.642000	0.46596	1.212000	0.43366	0.655000	0.94253	CCA	SEZ6L2	-	NULL		0.632	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	G	NM_012410		29883830	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	missense	SNP	0.998	T	T	29883830	G	T	29883830	3	4	58	1	0	0	0	0	1	0	0	0	14174	1174	41	3	238	3	SEZ6L2	16	29883830	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1691498	29883830	60470923	1017	8767										
RNF40	9810	genome.wustl.edu	37	chr16	30776605	30776605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcgagaagctgcggaagcGagagcaaaagctcaataagc	12	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:30776605G>A	ENST00000324685.6	+	7	1310	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	RNF40_ENST00000357890.5_Missense_Mutation_p.R292Q|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R292Q|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	292					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R292P(1)|p.R292Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGCGGAAGCGAGAGCAAAAG	0.597																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											104	101	102					16																	30776605		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.875G>A	16.37:g.30776605G>A	ENSP00000325677:p.Arg292Gln		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R292Q	ENST00000324685.6	37	c.875	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.303946	0.95601	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.45668	1.54;0.89	5.66	5.66	0.87406	.	0.057067	0.64402	D	0.000002	T	0.59101	0.2169	M	0.70275	2.135	0.80722	D	1	P;D;D	0.69078	0.938;0.997;0.997	B;P;P	0.61328	0.363;0.887;0.856	T	0.62397	-0.6863	10	0.87932	D	0	-9.844	11.9312	0.52847	0.0807:0.0:0.9193:0.0	.	292;292;292	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	Q	292;292;141	ENSP00000325677:R292Q;ENSP00000350563:R292Q	ENSP00000325677:R292Q	R	+	2	0	RNF40	30684106	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	7.679000	0.84048	2.667000	0.90743	0.563000	0.77884	CGA	RNF40	-	NULL		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30776605	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	0.998	A	A	30776605	G	A	30776605	3	1	58	1	0	0	0	0	1	0	0	0	13523	1058	37	1	897	1	RNF40	16	30776605	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	892775	30776605	59578148	1018	8768										
ZNF646	9726	genome.wustl.edu	37	chr16	31089929	31089929	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggcactggggaaggactgGaaaggaaggatgccagttta	17	5	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:31089929G>C	ENST00000394979.2	+	1	2707	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.E762Q			O15015	ZN646_HUMAN	zinc finger protein 646	762					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.E762Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGAAGGACTGGAAAGGAAGGA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											137	128	131					16																	31089929		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2284G>C	16.37:g.31089929G>C	ENSP00000378429:p.Glu762Gln		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E762Q	ENST00000394979.2	37	c.2284		16	.	.	.	.	.	.	.	.	.	.	g	6.690	0.495885	0.12762	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08546	3.08;3.11	5.18	2.19	0.27852	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	1	P	0.49090	0.919	B	0.43575	0.424	T	0.34601	-0.9822	9	0.15952	T	0.53	-0.2517	8.691	0.34267	0.3133:0.0:0.6867:0.0	.	762	O15015-2	.	Q	762	ENSP00000300850:E762Q;ENSP00000378429:E762Q	ENSP00000300850:E762Q	E	+	1	0	ZNF646	30997430	0.003000	0.15002	0.001000	0.08648	0.414000	0.31173	1.358000	0.34102	0.370000	0.24538	-0.213000	0.12676	GAA	ZNF646	-	NULL		0.532	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31089929	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.001	C	C	31089929	G	C	31089929	3	2	58	1	0	0	0	0	1	0	0	0	18092	1175	41	1	2286	1	ZNF646	16	31089929	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	313324	31089929	59264824	1019	8769										
ZNF646	9726	genome.wustl.edu	37	chr16	31090025	31090025	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctcactggggtggatgaaGaccagaagccagccactggc	14	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:31090025G>C	ENST00000394979.2	+	1	2803	c.2380G>C	c.(2380-2382)Gac>Cac	p.D794H	ZNF646_ENST00000300850.5_Missense_Mutation_p.D794H			O15015	ZN646_HUMAN	zinc finger protein 646	794					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.D794H(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGTGGATGAAGACCAGAAGCC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											79	76	77					16																	31090025		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2380G>C	16.37:g.31090025G>C	ENSP00000378429:p.Asp794His		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D794H	ENST00000394979.2	37	c.2380		16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001033	0.74818	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08807	3.05;3.08	5.3	5.3	0.74995	.	.	.	.	.	T	0.17280	0.0415	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.61592	0.891	T	0.19063	-1.0317	9	0.30854	T	0.27	-11.5675	17.7369	0.88396	0.0:0.0:1.0:0.0	.	794	O15015-2	.	H	794	ENSP00000300850:D794H;ENSP00000378429:D794H	ENSP00000300850:D794H	D	+	1	0	ZNF646	30997526	0.006000	0.16342	0.223000	0.23860	0.336000	0.28762	0.644000	0.24766	2.491000	0.84063	0.563000	0.77884	GAC	ZNF646	-	NULL		0.572	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31090025	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.062	C	C	31090025	G	C	31090025	3	2	58	1	0	0	0	0	1	0	0	0	18092	942	33	1	2382	1	ZNF646	16	31090025	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	96	31090025	59264728	1020	8770										
ZNF720	124411	genome.wustl.edu	37	chr16	31733961	31733961	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcagggactgttgacattCagggatgtggccatagaatt	12	6	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:31733961C>T	ENST00000316491.9	+	2	217	c.18C>T	c.(16-18)ttC>ttT	p.F6F	ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000531864.2_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TGTTGACATTCAGGGATGTGG	0.433																																																	0													99	97	97					16																	31733961		692	1591	2283	SO:0001819	synonymous_variant	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"Zinc fingers, C2H2-type", "-"	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.18C>T	16.37:g.31733961C>T			Q6ZQX1	Nonsense_Mutation	SNP	NULL	p.Q11*	ENST00000316491.9	37	c.31	CCDS45473.1	16																																																																																			ZNF720	-	NULL		0.433	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	C	NM_001004300		31733961	1	no_errors	ENST00000529943	ensembl	human	known	70_37	nonsense	SNP	0.961	T	T	31733961	C	T	31733961	2	4	58	1	0	0	0	0	0	0	0	1	18151	825	29	1		1	ZNF720	16	31733961	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	643936	31733961	58620792	1021	8771										
C16orf78	123970	genome.wustl.edu	37	chr16	49433132	49433132	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatatccacccccacatggtCgaagaggacatagatgctaa	9	11	0	2	rs547969905		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:49433132C>G	ENST00000299191.3	+	5	858	c.741C>G	c.(739-741)gtC>gtG	p.V247V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	247						nucleus (GO:0005634)		p.V247V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCCACATGGTCGAAGAGGACA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											145	118	127					16																	49433132		2199	4300	6499	SO:0001819	synonymous_variant	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.741C>G	16.37:g.49433132C>G				Silent	SNP	NULL	p.V247	ENST00000299191.3	37	c.741	CCDS10738.1	16																																																																																			C16orf78	-	NULL		0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	C	NM_144602		49433132	1	no_errors	ENST00000299191	ensembl	human	known	70_37	silent	SNP	0.000	G	G	49433132	C	G	49433132	2	3	58	1	0	0	0	0	0	0	0	1	1839	871	31	1		1	C16orf78	16	49433132	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	17699171	49433132	40921621	1022	8772										
HEATR3	55027	genome.wustl.edu	37	chr16	50100092	50100092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgacctcagttctcccctaCgggcgactgtcaggccgagg	13	15	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:50100092C>T	ENST00000299192.7	+	1	241	c.50C>T	c.(49-51)aCg>aTg	p.T17M	HEATR3_ENST00000285767.4_5'UTR|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	17								p.T17M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCTCCCCTACGGGCGACTGT	0.697																																																	1	Substitution - Missense(1)	cervix(1)											15	16	16					16																	50100092		2194	4293	6487	SO:0001583	missense	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.50C>T	16.37:g.50100092C>T	ENSP00000299192:p.Thr17Met		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T17M	ENST00000299192.7	37	c.50	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298955	0.60195	.	.	ENSG00000155393	ENST00000299192	T	0.50548	0.74	5.4	2.31	0.28768	.	0.378422	0.29916	N	0.010863	T	0.24851	0.0603	L	0.27053	0.805	0.24636	N	0.993596	P	0.44309	0.832	B	0.33454	0.164	T	0.12091	-1.0561	10	0.34782	T	0.22	.	5.5502	0.17086	0.1598:0.6641:0.0:0.1761	.	17	Q7Z4Q2	HEAT3_HUMAN	M	17	ENSP00000299192:T17M	ENSP00000299192:T17M	T	+	2	0	HEATR3	48657593	0.677000	0.27577	0.014000	0.15608	0.936000	0.57629	1.729000	0.38115	0.219000	0.20840	0.491000	0.48974	ACG	HEATR3	-	NULL		0.697	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	C	NM_182922		50100092	1	no_errors	ENST00000299192	ensembl	human	known	70_37	missense	SNP	0.053	T	T	50100092	C	T	50100092	3	4	58	1	0	0	0	0	1	0	0	0	7049	536	19	2	52	2	HEATR3	16	50100092	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	666960	50100092	40254661	1023	8773										
ADCY7	113	genome.wustl.edu	37	chr16	50332831	50332831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcaggccaacgagtgcatgcGaatcaagatcctcggcgact	12	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:50332831G>A	ENST00000394697.2	+	8	1305	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	ADCY7_ENST00000538642.1_Missense_Mutation_p.R322Q|ADCY7_ENST00000254235.3_Missense_Mutation_p.R322Q|ADCY7_ENST00000537579.1_Missense_Mutation_p.R322Q|ADCY7_ENST00000566433.2_Missense_Mutation_p.R322Q|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	322	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R322Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAGTGCATGCGAATCAAGATC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											120	93	102					16																	50332831		2198	4300	6498	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.965G>A	16.37:g.50332831G>A	ENSP00000378187:p.Arg322Gln		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R322Q	ENST00000394697.2	37	c.965	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.859661	0.97036	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.41938	U	0.000796	D	0.93229	0.7843	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94858	0.8019	10	0.87932	D	0	.	19.3876	0.94564	0.0:0.0:1.0:0.0	.	322;322	P51828;F5H4D1	ADCY7_HUMAN;.	Q	322	ENSP00000445046:R322Q;ENSP00000378187:R322Q;ENSP00000437788:R322Q;ENSP00000254235:R322Q	ENSP00000254235:R322Q	R	+	2	0	ADCY7	48890332	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.860000	0.99555	2.577000	0.86979	0.491000	0.48974	CGA	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	G			50332831	1	no_errors	ENST00000254235	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50332831	G	A	50332831	3	1	58	1	0	0	0	0	1	0	0	0	299	1058	37	1	991	1	ADCY7	16	50332831	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	232739	50332831	40021922	1024	8774										
NOD2	64127	genome.wustl.edu	37	chr16	50745680	50745680	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctacctggcactcagtgctGatgtgccaccagctttgctc	9	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:50745680G>A	ENST00000300589.2	+	4	1963	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	620					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.D620N(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTCAGTGCTGATGTGCCACC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											87	69	75					16																	50745680		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1858G>A	16.37:g.50745680G>A	ENSP00000300589:p.Asp620Asn		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.D620N	ENST00000300589.2	37	c.1858	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	G	1.917	-0.449400	0.04572	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70045	-0.45	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	T	0.72447	0.3461	L	0.47190	1.495	0.31417	N	0.674757	D;P;D	0.89917	1.0;0.804;1.0	D;B;D	0.85130	0.997;0.325;0.997	T	0.69540	-0.5118	10	0.18710	T	0.47	.	9.9908	0.41870	0.0924:0.0:0.9076:0.0	.	404;593;620	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	N	593;620	ENSP00000300589:D620N	ENSP00000300589:D620N	D	+	1	0	NOD2	49303181	0.978000	0.34361	0.056000	0.19401	0.008000	0.06430	2.954000	0.49113	2.484000	0.83849	0.561000	0.74099	GAT	NOD2	-	NULL		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	G	NM_022162		50745680	1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.492	A	A	50745680	G	A	50745680	3	1	58	1	0	0	0	0	1	0	0	0	10541	1290	45	1	1872	1	NOD2	16	50745680	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	412849	50745680	39609073	1025	8775										
SLC12A3	6559	genome.wustl.edu	37	chr16	56918016	56918016	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcggcgctgtttggggctatCatctccgtggtcatcatgtt	13	10	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:56918016C>T	ENST00000563236.1	+	14	1750	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	SLC12A3_ENST00000566786.1_Silent_p.I574I|SLC12A3_ENST00000438926.2_Silent_p.I575I|SLC12A3_ENST00000262502.5_Silent_p.I574I			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	575					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.I575I(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGGGGCTATCATCTCCGTGG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											201	160	174					16																	56918016		2198	4300	6498	SO:0001819	synonymous_variant	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1725C>T	16.37:g.56918016C>T			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I575	ENST00000563236.1	37	c.1725	CCDS58464.1	16																																																																																			SLC12A3	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	C			56918016	1	no_errors	ENST00000438926	ensembl	human	known	70_37	silent	SNP	0.019	T	T	56918016	C	T	56918016	2	4	58	1	0	0	0	0	0	0	0	1	14414	816	29	1		1	SLC12A3	16	56918016	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	6172336	56918016	33436737	1026	8776										
CIAPIN1	57019	genome.wustl.edu	37	chr16	57468100	57468100	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcgaacagactgtacttcctCaggggttaggggctcccgct	12	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:57468100C>T	ENST00000569979.1	-	4	458	c.412G>A	c.(412-414)Gag>Aag	p.E138K	CIAPIN1_ENST00000565961.1_Missense_Mutation_p.E111K|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.E138K|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.E138K|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.E138K|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.E125K					cytokine induced apoptosis inhibitor 1									p.E138K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGTACTTCCTCAGGGGTTAGG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											114	106	109					16																	57468100		1896	4117	6013	SO:0001583	missense	57019			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.412G>A	16.37:g.57468100C>T	ENSP00000458000:p.Glu138Lys			Missense_Mutation	SNP	pfam_CIAPIN1	p.E138K	ENST00000569979.1	37	c.412		16	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274735	0.23307	.	.	ENSG00000005194	ENST00000394391	T	0.31510	1.49	5.28	3.34	0.38264	.	0.208574	0.49916	N	0.000133	T	0.26448	0.0646	L	0.46614	1.455	0.58432	D	0.999998	B;B;B	0.13145	0.005;0.007;0.0	B;B;B	0.17722	0.014;0.019;0.002	T	0.04481	-1.0948	10	0.30078	T	0.28	-19.3281	11.4361	0.50068	0.0:0.8525:0.0:0.1475	.	138;125;138	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	K	138	ENSP00000377914:E138K	ENSP00000377914:E138K	E	-	1	0	CIAPIN1	56025601	0.994000	0.37717	0.452000	0.26994	0.004000	0.04260	3.269000	0.51592	0.737000	0.32582	-0.244000	0.11960	GAG	CIAPIN1	-	NULL		0.448	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	C	NM_020313		57468100	-1	no_errors	ENST00000394391	ensembl	human	known	70_37	missense	SNP	0.985	T	T	57468100	C	T	57468100	3	4	58	1	0	0	0	0	1	0	0	0	3424	835	29	1	546	1	CIAPIN1	16	57468100	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	550084	57468100	32886653	1027	8777										
POLR2C	5432	genome.wustl.edu	37	chr16	57503910	57503910	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgagaaagggccaggagctGagacttcgagcctatgccaa	13	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:57503910G>C	ENST00000219252.5	+	7	815	c.477G>C	c.(475-477)ctG>ctC	p.L159L	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	159					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L159L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GCCAGGAGCTGAGACTTCGAG	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											55	52	53					16																	57503910		2198	4300	6498	SO:0001819	synonymous_variant	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.477G>C	16.37:g.57503910G>C			O15161	Silent	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.L159	ENST00000219252.5	37	c.477	CCDS10782.1	16																																																																																			POLR2C	-	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3		0.522	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	G	NM_032940		57503910	1	no_errors	ENST00000219252	ensembl	human	known	70_37	silent	SNP	1.000	C	C	57503910	G	C	57503910	2	2	58	1	0	0	0	0	0	0	0	1	12240	1277	45	1		1	POLR2C	16	57503910	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	35810	57503910	32850843	1028	8778										
GPR114	221188	genome.wustl.edu	37	chr16	57601501	57601501	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcctgctgcacttccatttCaggtattccgctgccacagt	8	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:57601501C>T	ENST00000340339.4	+	8	1342	c.819C>T	c.(817-819)ttC>ttT	p.F273F	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.F273F	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	273					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F273F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACTTCCATTTCAGGTATTCCG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											77	63	68					16																	57601501		2198	4300	6498	SO:0001819	synonymous_variant	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.819C>T	16.37:g.57601501C>T			B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.F273	ENST00000340339.4	37	c.819	CCDS10785.1	16																																																																																			GPR114	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.572	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	C	NM_153837		57601501	1	no_errors	ENST00000340339	ensembl	human	known	70_37	silent	SNP	0.696	T	T	57601501	C	T	57601501	2	4	58	1	0	0	0	0	0	0	0	1	6650	825	29	1		1	GPR114	16	57601501	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	97591	57601501	32753252	1029	8779										
GINS3	64785	genome.wustl.edu	37	chr16	58426654	58426654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggcgctttcttcctggagcGgagcgcaggcgccgagactg	16	12	1	1	rs374002916		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:58426654G>A	ENST00000318129.5	+	1	357	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	GINS3_ENST00000328514.7_Missense_Mutation_p.R50Q|GINS3_ENST00000426538.2_Missense_Mutation_p.R50Q	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	50					DNA replication (GO:0006260)	nucleus (GO:0005634)		p.R50Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TTCCTGGAGCGGAGCGCAGGC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											27	28	28					16																	58426654		2198	4300	6498	SO:0001583	missense	64785			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.149G>A	16.37:g.58426654G>A	ENSP00000318196:p.Arg50Gln		B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	pfam_GINS_complex	p.R50Q	ENST00000318129.5	37	c.149	CCDS10796.1	16	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529238	0.64860	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T	0.14022	2.54	5.51	4.53	0.55603	.	0.299745	0.31145	N	0.008167	T	0.06690	0.0171	N	0.16478	0.41	0.09310	N	1	B;B;B	0.26547	0.152;0.011;0.001	B;B;B	0.13407	0.009;0.001;0.0	T	0.37314	-0.9711	10	0.13853	T	0.58	-0.0159	7.043	0.25031	0.0871:0.0:0.7396:0.1733	.	50;50;50	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	Q	50	ENSP00000318196:R50Q	ENSP00000318196:R50Q	R	+	2	0	GINS3	56984155	0.972000	0.33761	0.886000	0.34754	0.732000	0.41865	2.750000	0.47500	1.281000	0.44480	0.591000	0.81541	CGG	GINS3	-	NULL		0.662	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS3	HGNC	protein_coding	OTTHUMT00000257384.2	G	NM_022770		58426654	1	no_errors	ENST00000426538	ensembl	human	known	70_37	missense	SNP	0.102	A	A	58426654	G	A	58426654	3	1	58	1	0	0	0	0	1	0	0	0	6408	1116	39	2	151	2	GINS3	16	58426654	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	825153	58426654	31928099	1030	8780										
DYNC1LI2	1783	genome.wustl.edu	37	chr16	66764083	66764083	+	Frame_Shift_Del	DEL	C	C	-													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttcacggttgtaaaattttCatgtaaaatagctattttct							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:66764083delC	ENST00000258198.2	-	8	1179	c.973delG	c.(973-975)gaafs	p.E325fs	DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.E248fs|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'UTR	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	325					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTAAAATTTTCATGTAAAATA	0.418																																																	0													78	75	76					16																	66764083		2199	4300	6499	SO:0001589	frameshift_variant	1783			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.973delG	16.37:g.66764083delC	ENSP00000258198:p.Glu325fs		A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Del	DEL	pfam_Dynein_light_int_chain	p.E325fs	ENST00000258198.2	37	c.973	CCDS10818.1	16																																																																																			DYNC1LI2	-	pfam_Dynein_light_int_chain		0.418	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	C	NM_006141		66764083	-1	no_errors	ENST00000258198	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	66764083	C	-	66764083	7	5	58	1	0	1	0	1	0	0	0	0	4855	835	29	0	529	0	DYNC1LI2	16	66764083	Frame_Shift_Del	DEL	C	TCGA-DR-A0ZM-01A-12D-A10S-08	8337429	66764083	23590670	1031	8781										
HSF4	3299	genome.wustl.edu	37	chr16	67200473	67200473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcttcagctgatccagtgtCtctttgggccacttcaggcg	10	13	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67200473C>T	ENST00000521374.1	+	6	574	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	HSF4_ENST00000421453.1_Missense_Mutation_p.L192F|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.L192F|HSF4_ENST00000264009.8_Missense_Mutation_p.L192F			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	192	Hydrophobic repeat HR-A/B.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L192F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GATCCAGTGTCTCTTTGGGCC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											56	63	61					16																	67200473		1909	4136	6045	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.574C>T	16.37:g.67200473C>T	ENSP00000430947:p.Leu192Phe		Q99472|Q9ULV6	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.L192F	ENST00000521374.1	37	c.574	CCDS42175.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292659|3.292659	0.59976|0.59976	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729|ENST00000517750	.|.	.|.	.|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	0.176099|.	0.42964|.	D|.	0.000630|.	T|T	0.74779|0.74779	0.3761|0.3761	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.68483|.	0.958;0.897|.	T|T	0.76271|0.76271	-0.3020|-0.3020	9|5	0.72032|.	D|.	0.01|.	-14.9759|-14.9759	15.7826|15.7826	0.78272|0.78272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	192;192|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	F|F	192;192;192;192;129|38	.|.	ENSP00000264009:L192F|.	L|S	+|+	1|2	0|0	HSF4|HSF4	65757974|65757974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.806000|5.806000	0.69150|0.69150	2.255000|2.255000	0.74692|0.74692	0.563000|0.563000	0.77884|0.77884	CTC|TCT	HSF4	-	NULL		0.562	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	C	NM_001538		67200473	1	no_errors	ENST00000264009	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67200473	C	T	67200473	3	4	58	1	0	0	0	0	1	0	0	0	7418	913	32	1	596	1	HSF4	16	67200473	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	436390	67200473	23154280	1032	8782										
ELMO3	1874	genome.wustl.edu	37	chr16	67235753	67235753	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccgttccctctgtgcccgaGagttccgcaaactgggcttt	11	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67235753G>C	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Missense_Mutation_p.E396Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.E230Q|ELMO3_ENST00000360833.1_Missense_Mutation_p.E379Q|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E396Q(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGTGCCCGAGAGTTCCGCAA	0.652																																																	1	Substitution - Missense(1)	cervix(1)											66	76	73					16																	67235753		2034	4198	6232	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235753G>C			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E396Q	ENST00000379378.3	37	c.1186	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737679	0.89573	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.28895	1.59;1.59	5.55	4.59	0.56863	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.52749	-0.8534	10	0.72032	D	0.01	-22.6089	15.1296	0.72511	0.0:0.1421:0.8579:0.0	.	343;379;396	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	379;396	ENSP00000354077:E379Q;ENSP00000377566:E396Q	ENSP00000354077:E379Q	E	+	1	0	ELMO3	65793254	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	9.432000	0.97498	1.337000	0.45525	0.561000	0.74099	GAG	ELMO3	-	pfam_Engulfment_cell_motility_ELMO		0.652	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	G	NM_001950		67235753	1	no_errors	ENST00000393997	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67235753	G	C	67235753	1	2	58	0	1	0	0	0	0	0	0	0	5079	943	33	1		1	ELMO3	16	67235753	IGR	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	35280	67235753	23119000	1033	8783										
THAP11	57215	genome.wustl.edu	37	chr16	67876870	67876870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagtcctcaccctctgcctCcactgcccagactgcccagc	7	21	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67876870C>A	ENST00000303596.1	+	1	658	c.413C>A	c.(412-414)tCc>tAc	p.S138Y	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	138	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S138Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCCTCTGCCTCCACTGCCCAG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											62	67	66					16																	67876870		2189	4293	6482	SO:0001583	missense	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.413C>A	16.37:g.67876870C>A	ENSP00000304689:p.Ser138Tyr		A4UCT5|A8K002|O94795	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S138Y	ENST00000303596.1	37	c.413	CCDS10847.1	16	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744170	0.30865	.	.	ENSG00000168286	ENST00000303596	T	0.55930	0.49	4.81	4.81	0.61882	Armadillo-like helical (1);	0.332633	0.27754	N	0.017991	T	0.46249	0.1383	L	0.39898	1.24	0.34486	D	0.704467	B	0.28512	0.214	B	0.28011	0.085	T	0.60510	-0.7249	10	0.62326	D	0.03	-18.2439	15.2426	0.73482	0.0:1.0:0.0:0.0	.	138	Q96EK4	THA11_HUMAN	Y	138	ENSP00000304689:S138Y	ENSP00000304689:S138Y	S	+	2	0	THAP11	66434371	0.164000	0.22935	1.000000	0.80357	0.458000	0.32498	-0.066000	0.11598	2.653000	0.90120	0.514000	0.50259	TCC	THAP11	-	NULL		0.632	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	HGNC	protein_coding	OTTHUMT00000268879.1	C	NM_020457		67876870	1	no_errors	ENST00000303596	ensembl	human	known	70_37	missense	SNP	0.989	A	A	67876870	C	A	67876870	3	1	58	1	0	0	0	0	1	0	0	0	15873	855	30	3	415	3	THAP11	16	67876870	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	641117	67876870	22477883	1034	8784										
EDC4	23644	genome.wustl.edu	37	chr16	67910814	67910814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccaagtatgactgggaacaGaagtactactatggcaacct	10	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67910814G>C	ENST00000358933.5	+	4	629	c.390G>C	c.(388-390)caG>caC	p.Q130H	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	130					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q130H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGGAACAGAAGTACTACT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											160	155	157					16																	67910814		2198	4300	6498	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.390G>C	16.37:g.67910814G>C	ENSP00000351811:p.Gln130His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q130H	ENST00000358933.5	37	c.390	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714406	0.30413	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.42900	0.96	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.058263	0.64402	D	0.000001	T	0.27419	0.0673	N	0.11023	0.085	0.50467	D	0.999871	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.11991	-1.0565	10	0.12766	T	0.61	-18.4954	19.7135	0.96105	0.0:0.0:1.0:0.0	.	62;130	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	H	130;62	ENSP00000351811:Q130H	ENSP00000351811:Q130H	Q	+	3	2	EDC4	66468315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.028000	0.49705	2.769000	0.95229	0.655000	0.94253	CAG	EDC4	-	superfamily_WD40_repeat_dom		0.507	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	G	NM_014329		67910814	1	no_errors	ENST00000358933	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67910814	G	C	67910814	3	2	58	1	0	0	0	0	1	0	0	0	4918	933	33	1	404	1	EDC4	16	67910814	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	33944	67910814	22443939	1035	8785										
LCAT	3931	genome.wustl.edu	37	chr16	67974263	67974263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgaagctgggtgtggaaatGaacacgtggtcctcaggcca	14	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974263G>A	ENST00000264005.5	-	6	896	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	289					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.F289F(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GTGTGGAAATGAACACGTGGT	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											142	120	127					16																	67974263		2198	4300	6498	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.867C>T	16.37:g.67974263G>A			Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.F289	ENST00000264005.5	37	c.867	CCDS10854.1	16																																																																																			LCAT	-	pfam_LACT/PDAT_acylTrfase		0.557	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974263	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67974263	G	A	67974263	2	1	58	1	0	0	0	0	0	0	0	1	8678	1281	45	1		1	LCAT	16	67974263	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	63449	67974263	22380490	1036	8786			3	39		4	3	102	N	G	9.76135e-06
LCAT	3931	genome.wustl.edu	37	chr16	67974298	67974298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggccacgccatgcgagaggGaaacatccagggggaggtgg	18	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974298G>A	ENST00000264005.5	-	6	861	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	278					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.P278S(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ATGCGAGAGGGAAACATCCAG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											141	123	129					16																	67974298		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.832C>T	16.37:g.67974298G>A	ENSP00000264005:p.Pro278Ser		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.P278S	ENST00000264005.5	37	c.832	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508940	0.85282	.	.	ENSG00000213398	ENST00000264005	D	0.96011	-3.88	5.88	4.9	0.64082	.	0.000000	0.64402	U	0.000001	D	0.98185	0.9400	H	0.96489	3.83	0.53688	D	0.999975	D	0.63880	0.993	P	0.61070	0.883	D	0.99029	1.0820	10	0.87932	D	0	-14.5126	14.5969	0.68413	0.0:0.1469:0.8531:0.0	.	278	P04180	LCAT_HUMAN	S	278	ENSP00000264005:P278S	ENSP00000264005:P278S	P	-	1	0	LCAT	66531799	1.000000	0.71417	0.947000	0.38551	0.918000	0.54935	9.789000	0.99068	1.434000	0.47414	0.555000	0.69702	CCC	LCAT	-	pfam_LACT/PDAT_acylTrfase		0.552	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974298	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67974298	G	A	67974298	3	1	58	1	0	0	0	0	1	0	0	0	8678	1174	41	1	494	1	LCAT	16	67974298	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	35	67974298	22380455	1037	8787			3	39		4	3	102	N	G	9.76135e-06
LCAT	3931	genome.wustl.edu	37	chr16	67974359	67974359	+	Silent	SNP	G	G	A													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcagcttgatgctggacatGatggggatgccctggttgtc							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974359G>A	ENST00000264005.5	-	6	800	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	257				I -> H (in Ref. 8; CAB56610/AAA59499). {ECO:0000305}.	cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.I257I(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TGCTGGACATGATGGGGATGC	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											107	93	98					16																	67974359		2198	4300	6498	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.771C>T	16.37:g.67974359G>A			Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.I257	ENST00000264005.5	37	c.771	CCDS10854.1	16																																																																																			LCAT	-	pfam_LACT/PDAT_acylTrfase		0.592	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974359	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67974359	G	A	67974359	2	1	58	1	0	0	0	0	0	0	0	1	8678	1280	45	1		1	LCAT	16	67974359	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	61	67974359	22380394	1038	8788	46	2	3	39		4	3	102	N	G	9.76135e-06
LCAT	3931	genome.wustl.edu	37	chr16	67974364	67974364	+	Missense_Mutation	SNP	G	G	A													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttgatgctggacatgatggGgatgccctggttgtcacctg							TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974364G>A	ENST00000264005.5	-	6	795	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	256					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.P256S(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GACATGATGGGGATGCCCTGG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											100	87	91					16																	67974364		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.766C>T	16.37:g.67974364G>A	ENSP00000264005:p.Pro256Ser		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.P256S	ENST00000264005.5	37	c.766	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821686	0.50633	.	.	ENSG00000213398	ENST00000264005	D	0.95853	-3.83	5.62	5.62	0.85841	.	0.078206	0.51477	U	0.000093	D	0.95639	0.8582	M	0.74467	2.265	0.43368	D	0.995457	P	0.48089	0.905	P	0.47376	0.545	D	0.94309	0.7544	10	0.24483	T	0.36	-14.8674	17.1696	0.86826	0.0:0.0:1.0:0.0	.	256	P04180	LCAT_HUMAN	S	256	ENSP00000264005:P256S	ENSP00000264005:P256S	P	-	1	0	LCAT	66531865	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	5.520000	0.67080	2.644000	0.89710	0.561000	0.74099	CCC	LCAT	-	pfam_LACT/PDAT_acylTrfase		0.602	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974364	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67974364	G	A	67974364	3	1	58	1	0	0	0	0	1	0	0	0	8678	1232	43	4	560	4	LCAT	16	67974364	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5	67974364	22380389	1039	8789	46	2	3	39		4	3	102	N	G	9.76135e-06
DUS2L	54920	genome.wustl.edu	37	chr16	68090294	68090294	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatgtggctggtattgatgtCaacatgggctgtccaaaaca	12	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:68090294C>G	ENST00000565263.1	+	7	830	c.336C>G	c.(334-336)gtC>gtG	p.V112V	DUS2_ENST00000358896.6_Silent_p.V112V|AC130462.1_ENST00000408862.1_RNA|DUS2_ENST00000432752.1_Intron	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	112					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.V112V(1)									GTATTGATGTCAACATGGGCT	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											147	139	142					16																	68090294		2198	4300	6498	SO:0001819	synonymous_variant	54920				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.336C>G	16.37:g.68090294C>G			A8K3G3|Q4H4D9	Silent	SNP	pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd	p.V112	ENST00000565263.1	37	c.336	CCDS10859.1	16																																																																																			DUS2L	-	pfam_tRNA_hU_synthase		0.368	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2L	HGNC	protein_coding	OTTHUMT00000268869.2	C	NM_017803		68090294	1	no_errors	ENST00000358896	ensembl	human	known	70_37	silent	SNP	0.999	G	G	68090294	C	G	68090294	2	3	58	1	0	0	0	0	0	0	0	1	4816	813	29	1		1	DUS2L	16	68090294	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	115930	68090294	22264459	1040	8790										
NFATC3	4775	genome.wustl.edu	37	chr16	68156798	68156798	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgtagagactgacatccctCtcaaaacaaggaaaacttct	7	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:68156798C>G	ENST00000346183.3	+	2	1036	c.1012C>G	c.(1012-1014)Ctc>Gtc	p.L338V	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.L338V|NFATC3_ENST00000349223.5_Missense_Mutation_p.L338V|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.L338V	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	338					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L338V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGACATCCCTCTCAAAACAAG	0.478																																																	2	Substitution - Missense(2)	cervix(2)											131	129	130					16																	68156798		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1012C>G	16.37:g.68156798C>G	ENSP00000300659:p.Leu338Val		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.L338V	ENST00000346183.3	37	c.1012	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	8.472	0.857824	0.17178	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08546	3.08;3.08;3.08	5.39	3.42	0.39159	.	0.192250	0.39475	N	0.001349	T	0.16727	0.0402	L	0.35723	1.085	0.38335	D	0.943897	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.74674	0.984;0.94;0.984;0.984	T	0.02909	-1.1095	9	.	.	.	-4.4018	11.1581	0.48499	0.0:0.8493:0.0:0.1507	.	338;338;338;338	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	V	338	ENSP00000264008:L338V;ENSP00000300659:L338V;ENSP00000331324:L338V	.	L	+	1	0	NFATC3	66714299	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.816000	0.38992	0.742000	0.32697	0.563000	0.77884	CTC	NFATC3	-	NULL		0.478	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68156798	1	no_errors	ENST00000346183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68156798	C	G	68156798	3	3	58	1	0	0	0	0	1	0	0	0	10388	913	32	1	1018	1	NFATC3	16	68156798	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	66504	68156798	22197955	1041	8791										
HAS3	3038	genome.wustl.edu	37	chr16	69147371	69147371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actctgacactgtgctggatCcagcctgcaccatcgagatg	10	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:69147371C>G	ENST00000306560.1	+	3	820	c.664C>G	c.(664-666)Cca>Gca	p.P222A	HAS3_ENST00000219322.3_Missense_Mutation_p.P222A|HAS3_ENST00000569188.1_Missense_Mutation_p.P222A	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	222					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.P222A(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGTGCTGGATCCAGCCTGCAC	0.607											OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	cervix(2)											115	103	107					16																	69147371		2198	4300	6498	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.664C>G	16.37:g.69147371C>G	ENSP00000304440:p.Pro222Ala	1112	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.P222A	ENST00000306560.1	37	c.664	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039255	0.93630	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	D;T	0.89343	-2.5;-0.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	M	0.87456	2.885	0.80722	D	1	P;D	0.89917	0.525;1.0	B;D	0.87578	0.225;0.998	D	0.95275	0.8381	10	0.62326	D	0.03	-23.3275	19.6915	0.96002	0.0:1.0:0.0:0.0	.	222;222	O00219;O00219-2	HAS3_HUMAN;.	A	222	ENSP00000219322:P222A;ENSP00000304440:P222A	ENSP00000219322:P222A	P	+	1	0	HAS3	67704872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.836000	0.69375	2.824000	0.97209	0.655000	0.94253	CCA	HAS3	-	pfam_Chitin_synth_fng,pfam_Glyco_trans_2		0.607	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	C	NM_138612		69147371	1	no_errors	ENST00000306560	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69147371	C	G	69147371	3	3	58	1	0	0	0	0	1	0	0	0	6983	855	30	1	670	1	HAS3	16	69147371	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	990573	69147371	21207382	1042	8792										
NOB1	28987	genome.wustl.edu	37	chr16	69776286	69776286	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgttgggatttaagcgtctCcgcccagctcccaaggtgct	12	13	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:69776286C>G	ENST00000268802.5	-	9	1217	c.1188G>C	c.(1186-1188)cgG>cgC	p.R396R	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	396					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R396R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTAAGCGTCTCCGCCCAGCTC	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											48	48	48					16																	69776286		2198	4300	6498	SO:0001819	synonymous_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1188G>C	16.37:g.69776286C>G			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease	p.R396	ENST00000268802.5	37	c.1188	CCDS10884.1	16																																																																																			NOB1	-	pirsf_D-site_20S_pre-rRNA_nuclease		0.587	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	C	NM_014062		69776286	-1	no_errors	ENST00000268802	ensembl	human	known	70_37	silent	SNP	0.983	G	G	69776286	C	G	69776286	2	3	58	1	0	0	0	0	0	0	0	1	10535	842	30	1		1	NOB1	16	69776286	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	628915	69776286	20578467	1043	8793										
HYDIN	54768	genome.wustl.edu	37	chr16	70863624	70863624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgatgaactcaggcccctccCagtgctcgccctcaaagatg	9	15	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:70863624C>G	ENST00000393567.2	-	81	14159	c.14009G>C	c.(14008-14010)tGg>tCg	p.W4670S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4670					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCCCCTCCCAGTGCTCGCC	0.592																																																	0													1	1	1					16																	70863624		793	2024	2817	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14009G>C	16.37:g.70863624C>G	ENSP00000377197:p.Trp4670Ser		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.W4669S	ENST00000393567.2	37	c.14006	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382568	0.82792	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01152	5.26	5.2	5.2	0.72013	.	0.000000	0.32161	U	0.006499	T	0.07908	0.0198	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.03325	-1.1048	10	0.52906	T	0.07	.	18.3863	0.90468	0.0:1.0:0.0:0.0	.	4669	F8WD23	.	S	4670;4669	ENSP00000377197:W4670S	ENSP00000313052:W4669S	W	-	2	0	HYDIN	69421125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.416000	0.80143	2.441000	0.82636	0.505000	0.49811	TGG	HYDIN	-	NULL		0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70863624	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70863624	C	G	70863624	3	3	58	1	0	0	0	0	1	0	0	0	7487	595	21	4	1380	4	HYDIN	16	70863624	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1087338	70863624	19491129	1044	8794										
HYDIN	54768	genome.wustl.edu	37	chr16	71015349	71015349	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaaagattccctctccgctCagagtgatattttctgggtc	10	10	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:71015349C>T	ENST00000393567.2	-	29	4605	c.4455G>A	c.(4453-4455)ctG>ctA	p.L1485L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1485					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.L1436L(1)|p.L1484L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCGCTCAGAGTGATAT	0.483																																																	2	Substitution - coding silent(2)	cervix(2)											55	54	54					16																	71015349		1814	4057	5871	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4455G>A	16.37:g.71015349C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L1484	ENST00000393567.2	37	c.4452	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71015349	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.156	T	T	71015349	C	T	71015349	2	4	58	1	0	0	0	0	0	0	0	1	7487	813	29	1		1	HYDIN	16	71015349	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	151725	71015349	19339404	1045	8795										
CHST4	10164	genome.wustl.edu	37	chr16	71570649	71570649	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atggccatcttggctctattCttccacatgtacagccacaa	6	13	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:71570649C>G	ENST00000338482.5	+	3	412	c.69C>G	c.(67-69)ttC>ttG	p.F23L	CHST4_ENST00000539698.3_Missense_Mutation_p.F23L|CHST4_ENST00000572450.1_Missense_Mutation_p.F23L|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	23					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.F23L(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGCTCTATTCTTCCACATGT	0.498																																																	1	Substitution - Missense(1)	cervix(1)											111	107	109					16																	71570649		2198	4300	6498	SO:0001583	missense	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.69C>G	16.37:g.71570649C>G	ENSP00000341206:p.Phe23Leu		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.F23L	ENST00000338482.5	37	c.69	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645113	0.29246	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.95788	-3.81;-3.81	5.87	-2.8	0.05823	.	0.570110	0.17175	N	0.184107	D	0.82351	0.5018	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.74266	-0.3721	10	0.07030	T	0.85	-32.2236	2.9549	0.05874	0.1103:0.3689:0.3227:0.1981	.	23	Q8NCG5	CHST4_HUMAN	L	23	ENSP00000341206:F23L;ENSP00000441204:F23L	ENSP00000341206:F23L	F	+	3	2	CHST4	70128150	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.257000	0.08745	-0.411000	0.07530	0.563000	0.77884	TTC	CHST4	-	pirsf_Carbohydrate_sulfotransferase		0.498	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	C	NM_005769		71570649	1	no_errors	ENST00000338482	ensembl	human	known	70_37	missense	SNP	0.000	G	G	71570649	C	G	71570649	3	3	58	1	0	0	0	0	1	0	0	0	3411	912	32	1	71	1	CHST4	16	71570649	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	555300	71570649	18784104	1046	8796										
CHST5	23563	genome.wustl.edu	37	chr16	75563112	75563112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caccagatccagggtgaggtCacgctgctggtccgcagagt	14	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:75563112C>T	ENST00000336257.3	-	3	2565	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	CHST5_ENST00000541075.1_Missense_Mutation_p.D397N|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	391					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D391N(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGGGTGAGGTCACGCTGCTGG	0.657																																																	1	Substitution - Missense(1)	cervix(1)											36	31	33					16																	75563112		2198	4300	6498	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1171G>A	16.37:g.75563112C>T	ENSP00000338783:p.Asp391Asn		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.D397N	ENST00000336257.3	37	c.1189	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	C	0.303	-0.972856	0.02215	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96554	-4.05;-4.05	2.84	1.87	0.25490	.	0.323127	0.32120	N	0.006546	D	0.87176	0.6112	N	0.10916	0.065	0.27869	N	0.94011	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.001	T	0.74160	-0.3755	10	0.02654	T	1	.	8.7567	0.34650	0.0:0.8792:0.0:0.1208	.	397;391	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	391;397	ENSP00000338783:D391N;ENSP00000441220:D397N	ENSP00000338783:D391N	D	-	1	0	CHST5	74120613	0.083000	0.21467	0.950000	0.38849	0.090000	0.18270	0.554000	0.23407	0.520000	0.28426	0.313000	0.20887	GAC	CHST5	-	pirsf_Carbohydrate_sulfotransferase		0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	C	NM_012126		75563112	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	0.922	T	T	75563112	C	T	75563112	3	4	58	1	0	0	0	0	1	0	0	0	3412	826	29	1	68	1	CHST5	16	75563112	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3992463	75563112	14791641	1047	8797										
KIAA0182	23199	genome.wustl.edu	37	chr16	85689362	85689362	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcctactgcctgtctgccctGaggtccccgttctaccccat	7	18	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:85689362G>A	ENST00000253458.7	+	6	1004	c.828G>A	c.(826-828)ctG>ctA	p.L276L	GSE1_ENST00000405402.2_Silent_p.L172L|GSE1_ENST00000393243.1_Silent_p.L203L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	276								p.L276L(1)									TGTCTGCCCTGAGGTCCCCGT	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											93	81	85					16																	85689362		2195	4298	6493	SO:0001819	synonymous_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.828G>A	16.37:g.85689362G>A			D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	pfam_GSE-like	p.L276	ENST00000253458.7	37	c.828	CCDS10952.1	16																																																																																			GSE1	-	NULL		0.647	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	G	NM_014615		85689362	1	no_errors	ENST00000253458	ensembl	human	known	70_37	silent	SNP	1.000	A	A	85689362	G	A	85689362	2	1	58	1	0	0	0	0	0	0	0	1	8179	1277	45	1		1	KIAA0182	16	85689362	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	10126250	85689362	4665391	1048	8798										
SPG7	6687	genome.wustl.edu	37	chr16	89603184	89603184	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccaaccaggtgcctctcttGaccagctaccctcccagggg	9	17	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89603184G>A	ENST00000268704.2	+	9	1339				SPG7_ENST00000341316.2_Missense_Mutation_p.D446N	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.D446N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGCCTCTCTTGACCAGCTACC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											119	128	125					16																	89603184		2198	4300	6498	SO:0001627	intron_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1324+4140G>A	16.37:g.89603184G>A			O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D446N	ENST00000268704.2	37	c.1336	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	G	5.337	0.247471	0.10130	.	.	ENSG00000197912	ENST00000341316	D	0.94576	-3.46	0.74	-0.514	0.11958	.	.	.	.	.	D	0.86422	0.5929	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.72257	-0.4346	7	0.20519	T	0.43	.	.	.	.	.	446	Q9UQ90-2	.	N	446	ENSP00000341157:D446N	ENSP00000341157:D446N	D	+	1	0	SPG7	88130685	.	.	0.001000	0.08648	0.014000	0.08584	.	.	-0.160000	0.11002	0.407000	0.27541	GAC	SPG7	-	smart_AAA+_ATPase		0.652	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	G	NM_003119		89603184	1	no_errors	ENST00000341316	ensembl	human	known	70_37	missense	SNP	0.001	A	A	89603184	G	A	89603184	1	1	58	0	1	0	0	0	0	0	0	0	15074	1290	45	1		1	SPG7	16	89603184	Intron	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3913822	89603184	751569	1049	8799										
C16orf55	124045	genome.wustl.edu	37	chr16	89724711	89724711	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaaaatctaaggagaagttGatggagaagcattcccagga	11	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89724711G>A	ENST00000301031.4	+	2	90	c.90G>A	c.(88-90)ttG>ttA	p.L30L	CHMP1A_ENST00000535997.2_5'Flank|SPATA33_ENST00000568929.1_De_novo_Start_InFrame|CHMP1A_ENST00000253475.5_5'Flank|CHMP1A_ENST00000397901.3_5'Flank|SPATA33_ENST00000579310.1_Silent_p.L31L|CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	30						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L30L(1)									AGGAGAAGTTGATGGAGAAGC	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											69	73	72					16																	89724711		2198	4300	6498	SO:0001819	synonymous_variant	124045			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.90G>A	16.37:g.89724711G>A			A8WFL2|B4DZN8	Silent	SNP	NULL	p.L31	ENST00000301031.4	37	c.93	CCDS10983.1	16																																																																																			C16orf55	-	NULL		0.562	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C16orf55	HGNC	protein_coding	OTTHUMT00000269924.2	G	NM_153025		89724711	1	no_errors	ENST00000579310	ensembl	human	known	70_37	silent	SNP	0.000	A	A	89724711	G	A	89724711	2	1	58	1	0	0	0	0	0	0	0	1	1824	1281	45	1		1	C16orf55	16	89724711	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	121527	89724711	630042	1050	8800										
SPATA2L	124044	genome.wustl.edu	37	chr16	89764620	89764620	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caccatgagccgatggctgtCtctgcgtacgtagcccatct	10	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89764620C>G	ENST00000289805.5	-	3	465	c.397G>C	c.(397-399)Gac>Cac	p.D133H	SPATA2L_ENST00000335360.7_Missense_Mutation_p.D133H	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	133								p.D133H(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CGATGGCTGTCTCTGCGTACG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											102	109	107					16																	89764620		2198	4300	6498	SO:0001583	missense	124044			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.397G>C	16.37:g.89764620C>G	ENSP00000289805:p.Asp133His		D3DX85|Q8NHV3	Missense_Mutation	SNP	NULL	p.D133H	ENST00000289805.5	37	c.397	CCDS10985.1	16	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568610	0.65651	.	.	ENSG00000158792	ENST00000289805;ENST00000335360	.	.	.	4.72	4.72	0.59763	.	0.432276	0.25032	N	0.033669	T	0.59418	0.2192	L	0.34521	1.04	0.39598	D	0.969684	D;D	0.69078	0.992;0.997	P;P	0.57425	0.739;0.82	T	0.56715	-0.7933	9	0.23891	T	0.37	-14.5919	14.5995	0.68429	0.0:1.0:0.0:0.0	.	133;133	Q8IUW3-2;Q8IUW3	.;SPA2L_HUMAN	H	133	.	ENSP00000289805:D133H	D	-	1	0	SPATA2L	88292121	0.936000	0.31750	0.960000	0.40013	0.844000	0.47949	3.496000	0.53288	2.158000	0.67659	0.462000	0.41574	GAC	SPATA2L	-	NULL		0.647	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1	C	NM_152339		89764620	-1	no_errors	ENST00000289805	ensembl	human	known	70_37	missense	SNP	0.985	G	G	89764620	C	G	89764620	3	3	58	1	0	0	0	0	1	0	0	0	15039	913	32	1	881	1	SPATA2L	16	89764620	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	39909	89764620	590133	1051	8801										
ZNF276	92822	genome.wustl.edu	37	chr16	89804295	89804295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtccaccaaatgcgacattCgggagccaagcctttgcagt	10	13	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89804295C>T	ENST00000443381.2	+	10	1653	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	ZNF276_ENST00000568064.1_Missense_Mutation_p.S427L|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.S305L|ZNF276_ENST00000289816.5_Missense_Mutation_p.S444L	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S519L(1)|p.S444L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ATGCGACATTCGGGAGCCAAG	0.572																																																	2	Substitution - Missense(2)	cervix(2)											117	107	110					16																	89804295		2198	4300	6498	SO:0001583	missense	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1556C>T	16.37:g.89804295C>T	ENSP00000415836:p.Ser519Leu		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S519L	ENST00000443381.2	37	c.1556	CCDS45554.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.361831	0.95877	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.60424	0.19;0.19;0.19	5.62	5.62	0.85841	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.982;0.992;0.987;0.989	T	0.71133	-0.4681	10	0.87932	D	0	-13.5122	18.6521	0.91433	0.0:1.0:0.0:0.0	.	357;519;305;444	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	L	305;444;519	ENSP00000415999:S305L;ENSP00000289816:S444L;ENSP00000415836:S519L	ENSP00000289816:S444L	S	+	2	0	ZNF276	88331796	1.000000	0.71417	0.955000	0.39395	0.826000	0.46750	7.311000	0.78958	2.650000	0.89964	0.555000	0.69702	TCG	ZNF276	-	pfscan_Znf_C2H2		0.572	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	HGNC	protein_coding	OTTHUMT00000422517.1	C	NM_152287		89804295	1	no_errors	ENST00000443381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89804295	C	T	89804295	3	4	58	1	0	0	0	0	1	0	0	0	17841	893	31	1	1594	1	ZNF276	16	89804295	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	39675	89804295	550458	1052	8802										
TUBB3	10381	genome.wustl.edu	37	chr16	90001669	90001669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacttcttcatgcccggcttCgcccccctcacagcccgggg	9	20	3	0	rs551650733		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:90001669C>T	ENST00000315491.7	+	4	933	c.810C>T	c.(808-810)ttC>ttT	p.F270F	TUBB3_ENST00000304984.5_Silent_p.F198F|TUBB3_ENST00000554444.1_Silent_p.F198F|TUBB3_ENST00000556922.1_Silent_p.F617F|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	270					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F270F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TGCCCGGCTTCGCCCCCCTCA	0.677													C|||	1	0.000199681	0	0	5008	,	,		18654	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)											41	43	42					16																	90001669		2198	4300	6498	SO:0001819	synonymous_variant	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.810C>T	16.37:g.90001669C>T			A8K854|Q9BTZ0|Q9BW10	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.F270	ENST00000315491.7	37	c.810	CCDS10988.1	16																																																																																			TUBB3	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.677	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Uniprot_genename	protein_coding	OTTHUMT00000272874.1	C	NM_006086		90001669	1	no_errors	ENST00000315491	ensembl	human	known	70_37	silent	SNP	0.912	T	T	90001669	C	T	90001669	2	4	58	1	0	0	0	0	0	0	0	1	16788	883	31	1		1	TUBB3	16	90001669	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	197374	90001669	353084	1053	8803										
FAM57A	79850	genome.wustl.edu	37	chr17	643789	643789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctttgtcggctgcatcttCacggcagaactgagcactcc	9	13	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:643789C>T	ENST00000308278.8	+	4	689	c.453C>T	c.(451-453)ttC>ttT	p.F151F	FAM57A_ENST00000301324.8_Intron|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	151	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F151F(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GCTGCATCTTCACGGCAGAAC	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											136	131	132					17																	643789		2203	4300	6503	SO:0001819	synonymous_variant	79850			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.453C>T	17.37:g.643789C>T			A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.F151	ENST00000308278.8	37	c.453	CCDS10996.1	17																																																																																			FAM57A	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57A	HGNC	protein_coding	OTTHUMT00000437155.2	C	NM_024792		643789	1	no_errors	ENST00000308278	ensembl	human	known	70_37	silent	SNP	0.990	T	T	643789	C	T	643789	2	4	58	1	0	0	0	0	0	0	0	1	5606	825	29	1		1	FAM57A	17	643789	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		643789	80551421	1054	8804										
GEMIN4	50628	genome.wustl.edu	37	chr17	648334	648334	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgatgtgcagagcatggcaGaacacctgggtgtaaacaaa	12	7	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:648334G>C	ENST00000319004.5	-	2	3067	c.2949C>G	c.(2947-2949)ttC>ttG	p.F983L	GEMIN4_ENST00000576778.1_Missense_Mutation_p.F972L	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	983					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.F983L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGCATGGCAGAACACCTGGG	0.562																																																	2	Substitution - Missense(2)	cervix(2)											37	39	38					17																	648334		2012	4181	6193	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2949C>G	17.37:g.648334G>C	ENSP00000321706:p.Phe983Leu		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.F983L	ENST00000319004.5	37	c.2949	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995507	0.74703	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11542	-1.0583	10	0.87932	D	0	-23.8376	14.3664	0.66807	0.0726:0.0:0.9274:0.0	.	983	P57678	GEMI4_HUMAN	L	983	ENSP00000321706:F983L	ENSP00000321706:F983L	F	-	3	2	GEMIN4	595084	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.476000	0.73587	2.770000	0.95276	0.655000	0.94253	TTC	GEMIN4	-	NULL		0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		648334	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	missense	SNP	1.000	C	C	648334	G	C	648334	3	2	58	1	0	0	0	0	1	0	0	0	6349	933	33	1	231	1	GEMIN4	17	648334	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4545	648334	80546876	1055	8805										
SMG6	23293	genome.wustl.edu	37	chr17	2195915	2195915	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggagcaatgtgctgggccttCaggtaccaactagaacagaa	12	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:2195915C>T	ENST00000263073.6	-	6	2318	c.2268G>A	c.(2266-2268)ctG>ctA	p.L756L	SMG6_ENST00000544865.1_Silent_p.L725L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	756					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.L756L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTGGGCCTTCAGGTACCAAC	0.438																																					Melanoma(59;28 1088 11621 25887 46638 50814)												1	Substitution - coding silent(1)	cervix(1)											96	101	99					17																	2195915		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2268G>A	17.37:g.2195915C>T			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.L756	ENST00000263073.6	37	c.2268	CCDS11016.1	17																																																																																			SMG6	-	NULL		0.438	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2195915	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2195915	C	T	2195915	2	4	58	1	0	0	0	0	0	0	0	1	14827	813	29	1		1	SMG6	17	2195915	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1547581	2195915	78999295	1056	8806										
KIAA0664	23277	genome.wustl.edu	37	chr17	2596110	2596110	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggggtgctcggtgcccatCacccgctcgctcatcagcac	11	16	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:2596110C>G	ENST00000570628.2	-	20	3264	c.3159G>C	c.(3157-3159)gtG>gtC	p.V1053V	CLUH_ENST00000435359.1_Silent_p.V1053V|CLUH_ENST00000538975.1_Silent_p.V1053V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1053					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.V1054V(2)									CGGTGCCCATCACCCGCTCGC	0.692																																																	2	Substitution - coding silent(2)	cervix(2)											45	51	49					17																	2596110		2116	4213	6329	SO:0001819	synonymous_variant	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3159G>C	17.37:g.2596110C>G			Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	superfamily_GSKIP/TIF31_domain	p.V1053	ENST00000570628.2	37	c.3159	CCDS45572.1	17																																																																																			KIAA0664	-	NULL		0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	C	NM_015229		2596110	-1	no_errors	ENST00000435359	ensembl	human	known	70_37	silent	SNP	0.999	G	G	2596110	C	G	2596110	2	3	58	1	0	0	0	0	0	0	0	1	8209	813	29	1		1	KIAA0664	17	2596110	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	400195	2596110	78599100	1057	8807										
CTNS	1497	genome.wustl.edu	37	chr17	3559814	3559814	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcttcgacttcgtggctctGaacctgacgggcttcgtggc	13	12	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:3559814G>C	ENST00000046640.3	+	8	1088	c.495G>C	c.(493-495)ctG>ctC	p.L165L	CTNS_ENST00000441220.2_Silent_p.L57L|CTNS_ENST00000414524.2_Silent_p.L18L|CTNS_ENST00000381870.3_Silent_p.L165L|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	165	PQ-loop 1.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.L165L(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCGTGGCTCTGAACCTGACGG	0.607																																																	2	Substitution - coding silent(2)	cervix(2)											147	98	114					17																	3559814		2203	4300	6503	SO:0001819	synonymous_variant	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.495G>C	17.37:g.3559814G>C			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	smart_CTNS,tigrfam_LC_transporter	p.L165	ENST00000046640.3	37	c.495	CCDS11031.1	17																																																																																			CTNS	-	smart_CTNS,tigrfam_LC_transporter		0.607	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	G	NM_004937		3559814	1	no_errors	ENST00000381870	ensembl	human	known	70_37	silent	SNP	0.978	C	C	3559814	G	C	3559814	2	2	58	1	0	0	0	0	0	0	0	1	4026	1277	45	1		1	CTNS	17	3559814	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	963704	3559814	77635396	1058	8808										
ZZEF1	23140	genome.wustl.edu	37	chr17	3928361	3928361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actggctcagctgggcccgaGagtcaccacactcttgtcct	10	15	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:3928361G>A	ENST00000381638.2	-	43	7068	c.6944C>T	c.(6943-6945)tCt>tTt	p.S2315F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2315							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S2315F(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGGGCCCGAGAGTCACCACA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											89	79	83					17																	3928361		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6944C>T	17.37:g.3928361G>A	ENSP00000371051:p.Ser2315Phe		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.S2315F	ENST00000381638.2	37	c.6944	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720444	0.48728	.	.	ENSG00000074755	ENST00000381638	T	0.22539	1.95	5.8	4.82	0.62117	.	0.510476	0.20256	N	0.095974	T	0.11836	0.0288	N	0.19112	0.55	0.09310	N	1	P	0.47302	0.893	B	0.34138	0.176	T	0.12167	-1.0558	10	0.72032	D	0.01	-9.9494	10.3658	0.44024	0.07:0.1358:0.7942:0.0	.	2315	O43149	ZZEF1_HUMAN	F	2315	ENSP00000371051:S2315F	ENSP00000371051:S2315F	S	-	2	0	ZZEF1	3875110	0.994000	0.37717	0.984000	0.44739	0.636000	0.38137	2.547000	0.45786	1.441000	0.47550	0.555000	0.69702	TCT	ZZEF1	-	NULL		0.532	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3928361	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	missense	SNP	0.079	A	A	3928361	G	A	3928361	3	1	58	1	0	0	0	0	1	0	0	0	18285	942	33	1	1993	1	ZZEF1	17	3928361	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	368547	3928361	77266849	1059	8809										
PLD2	5338	genome.wustl.edu	37	chr17	4711670	4711670	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggagctgcatcgggacctCctgagacacaaagtcttgat	11	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:4711670C>T	ENST00000263088.6	+	4	473	c.342C>T	c.(340-342)ctC>ctT	p.L114L	PLD2_ENST00000572940.1_Silent_p.L114L|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L114L(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ATCGGGACCTCCTGAGACACA	0.557																																																	2	Substitution - coding silent(2)	cervix(2)											179	177	178					17																	4711670		2203	4300	6503	SO:0001819	synonymous_variant	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.342C>T	17.37:g.4711670C>T			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.L114	ENST00000263088.6	37	c.342	CCDS11057.1	17																																																																																			PLD2	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox		0.557	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3	C	NM_002663		4711670	1	no_errors	ENST00000263088	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4711670	C	T	4711670	2	4	58	1	0	0	0	0	0	0	0	1	12070	842	30	1		1	PLD2	17	4711670	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	783309	4711670	76483540	1060	8810										
CHRNE	1145	genome.wustl.edu	37	chr17	4805969	4805969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctgatggtgacagtatcctCaggctcccgcactggccggc	13	14	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:4805969C>G	ENST00000293780.4	-	2	146	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	46					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.E46Q(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACAGTATCCTCAGGCTCCCGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											149	157	154					17																	4805969		2203	4300	6503	SO:0001583	missense	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.136G>C	17.37:g.4805969C>G	ENSP00000293780:p.Glu46Gln		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.E46Q	ENST00000293780.4	37	c.136	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602670	0.66445	.	.	ENSG00000108556	ENST00000293780	T	0.78246	-1.16	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel ligand-binding (3);	0.155164	0.56097	D	0.000027	T	0.77301	0.4110	L	0.37750	1.13	0.80722	D	1	P	0.38223	0.623	P	0.48524	0.58	T	0.77429	-0.2591	10	0.49607	T	0.09	.	13.8921	0.63744	0.0:1.0:0.0:0.0	.	46	Q04844	ACHE_HUMAN	Q	46	ENSP00000293780:E46Q	ENSP00000293780:E46Q	E	-	1	0	CHRNE	4746748	0.570000	0.26651	0.996000	0.52242	0.573000	0.36030	2.081000	0.41596	2.648000	0.89879	0.650000	0.86243	GAG	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.552	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	C			4805969	-1	no_errors	ENST00000293780	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4805969	C	G	4805969	3	3	58	1	0	0	0	0	1	0	0	0	3400	835	29	1	1389	1	CHRNE	17	4805969	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	94299	4805969	76389241	1061	8811										
ACADVL	37	genome.wustl.edu	37	chr17	7125395	7125395	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaatggaagcaagctttgGatcaggcaacctgcctccca	9	13	2	0	rs141167669		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:7125395G>A	ENST00000356839.5	+	8	926	c.747G>A	c.(745-747)tgG>tgA	p.W249*	ACADVL_ENST00000350303.5_Nonsense_Mutation_p.W227*|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Nonsense_Mutation_p.W272*|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	249	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.W249*(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GCAAGCTTTGGATCAGGCAAC	0.577																																																	1	Substitution - Nonsense(1)	cervix(1)											122	121	121					17																	7125395		2203	4300	6503	SO:0001587	stop_gained	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.747G>A	17.37:g.7125395G>A	ENSP00000349297:p.Trp249*		B4DEB6|F5H2A9|O76056|Q8WUL0	Nonsense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.W249*	ENST00000356839.5	37	c.747	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.288343	0.97444	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	.	.	.	5.53	5.53	0.82687	.	0.124213	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9874	0.86344	0.0:0.0:1.0:0.0	.	.	.	.	X	272;295;227;249;295	.	ENSP00000325395:W249X	W	+	3	0	ACADVL	7066119	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.624000	0.90961	2.605000	0.88082	0.655000	0.94253	TGG	ACADVL	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase		0.577	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	G	NM_000018		7125395	1	no_errors	ENST00000356839	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	7125395	G	A	7125395	4	1	58	1	0	0	0	0	0	1	0	0	116	1183	41	1	777	1	ACADVL	17	7125395	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2319426	7125395	74069815	1062	8812										
YBX2	51087	genome.wustl.edu	37	chr17	7196799	7196799	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggttccttggatacctgttGatgaatccgtaaccattccg	10	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:7196799G>T	ENST00000007699.5	-	2	393	c.330C>A	c.(328-330)atC>atA	p.I110I	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	110	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)	p.I110I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GATACCTGTTGATGAATCCGT	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											115	88	97					17																	7196799		2203	4300	6503	SO:0001819	synonymous_variant	51087			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.330C>A	17.37:g.7196799G>T			D3DTP1|Q8N4P0	Silent	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.I110	ENST00000007699.5	37	c.330	CCDS11098.1	17																																																																																			YBX2	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd		0.597	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX2	HGNC	protein_coding	OTTHUMT00000440172.2	G	NM_015982		7196799	-1	no_errors	ENST00000007699	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7196799	G	T	7196799	2	4	58	1	0	0	0	0	0	0	0	1	17501	1280	45	3		3	YBX2	17	7196799	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	71404	7196799	73998411	1063	8813										
ZBTB4	57659	genome.wustl.edu	37	chr17	7369795	7369795	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggctggagggggagaggaaGaggaagaggaagaagaagaa	21	1	0	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:7369795G>C	ENST00000311403.4	-	3	665	c.326C>G	c.(325-327)tCt>tGt	p.S109C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S109C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.S109C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGagaggaagaggaagagga	0.587																																																	2	Substitution - Missense(2)	cervix(2)											20	21	21					17																	7369795		2202	4298	6500	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.326C>G	17.37:g.7369795G>C	ENSP00000307858:p.Ser109Cys		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S109C	ENST00000311403.4	37	c.326	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776899	0.16120	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.39229	1.09;1.09	4.41	3.43	0.39272	BTB/POZ-like (2);BTB/POZ fold (1);	0.485959	0.18741	N	0.132449	T	0.20941	0.0504	N	0.08118	0	0.24449	N	0.994491	B	0.11235	0.004	B	0.08055	0.003	T	0.12116	-1.0560	10	0.56958	D	0.05	-11.9589	5.9042	0.18984	0.1056:0.196:0.6984:0.0	.	109	Q9P1Z0	ZBTB4_HUMAN	C	109	ENSP00000307858:S109C;ENSP00000369973:S109C	ENSP00000307858:S109C	S	-	2	0	ZBTB4	7310519	0.986000	0.35501	0.961000	0.40146	0.388000	0.30384	4.073000	0.57570	1.060000	0.40578	0.462000	0.41574	TCT	ZBTB4	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.587	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	G	NM_020899		7369795	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	missense	SNP	0.995	C	C	7369795	G	C	7369795	3	2	58	1	0	0	0	0	1	0	0	0	17571	942	33	1	2723	1	ZBTB4	17	7369795	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	172996	7369795	73825415	1064	8814										
MYH13	8735	genome.wustl.edu	37	chr17	10210315	10210315	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggactcctggatcgagttctCcacctctgcctggcactgag	11	14	2	1	rs369023941		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:10210315C>G	ENST00000418404.3	-	35	5399	c.5236G>C	c.(5236-5238)Gag>Cag	p.E1746Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E1746Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1746					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1746Q(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCGAGTTCTCCACCTCTGCC	0.488																																																	2	Substitution - Missense(2)	cervix(2)											97	100	99					17																	10210315		2200	4300	6500	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5236G>C	17.37:g.10210315C>G	ENSP00000404570:p.Glu1746Gln		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1746Q	ENST00000418404.3	37	c.5236	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138083	0.77775	.	.	ENSG00000006788	ENST00000252172	D	0.81908	-1.55	4.1	3.12	0.35913	Myosin tail (1);	.	.	.	.	D	0.93268	0.7855	H	0.97131	3.945	0.38303	D	0.943026	D	0.64830	0.994	D	0.72338	0.977	D	0.95091	0.8222	9	0.66056	D	0.02	.	12.305	0.54898	0.0:0.9166:0.0:0.0834	.	1746	Q9UKX3	MYH13_HUMAN	Q	1746	ENSP00000252172:E1746Q	ENSP00000252172:E1746Q	E	-	1	0	MYH13	10151040	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.612000	0.82975	1.057000	0.40506	0.563000	0.77884	GAG	MYH13	-	pfam_Myosin_tail		0.488	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10210315	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10210315	C	G	10210315	3	3	58	1	0	0	0	0	1	0	0	0	10055	864	30	1	604	1	MYH13	17	10210315	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2840520	10210315	70984895	1065	8815										
MYH3	4621	genome.wustl.edu	37	chr17	10558218	10558218	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagtgaccttcccatcctgaGaactcttgattttccccttg	6	14	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:10558218G>A	ENST00000583535.1	-	3	251	c.164C>T	c.(163-165)tCt>tTt	p.S55F	MYH3_ENST00000226209.7_Missense_Mutation_p.S55F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	55					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.S55F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCCATCCTGAGAACTCTTGAT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											271	250	257					17																	10558218		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.164C>T	17.37:g.10558218G>A	ENSP00000464317:p.Ser55Phe		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S55F	ENST00000583535.1	37	c.164	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790733	0.50102	.	.	ENSG00000109063	ENST00000226209	T	0.80909	-1.43	5.49	3.36	0.38483	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.87014	0.6072	L	0.41492	1.28	0.09310	N	1	B	0.25272	0.122	P	0.53593	0.73	T	0.83125	-0.0116	9	0.72032	D	0.01	.	17.1772	0.86844	0.0:0.4258:0.5742:0.0	.	55	P11055	MYH3_HUMAN	F	55	ENSP00000226209:S55F	ENSP00000226209:S55F	S	-	2	0	MYH3	10498943	0.000000	0.05858	0.407000	0.26434	0.890000	0.51754	0.189000	0.17037	0.746000	0.32786	0.655000	0.94253	TCT	MYH3	-	pfam_Myosin_N		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10558218	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	0.004	A	A	10558218	G	A	10558218	3	1	58	1	0	0	0	0	1	0	0	0	10059	942	33	1	5814	1	MYH3	17	10558218	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	347903	10558218	70636992	1066	8816										
RICH2	9912	genome.wustl.edu	37	chr17	12893363	12893363	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttccagatcttgtccactttGatattccctcgatccacata	4	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:12893363G>C	ENST00000379672.5	+	21	2632	c.2332G>C	c.(2332-2334)Gat>Cat	p.D778H	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.D772H|ARHGAP44_ENST00000262444.9_3'UTR|RP11-597M12.1_ENST00000582915.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	778	Interaction with BST2.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.D778H(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGTCCACTTTGATATTCCCTC	0.542																																																	1	Substitution - Missense(1)	cervix(1)											104	103	103					17																	12893363		1990	4176	6166	SO:0001583	missense	9912				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2332G>C	17.37:g.12893363G>C	ENSP00000368994:p.Asp778His		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.D778H	ENST00000379672.5	37	c.2332	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786151	0.49997	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.20463	2.12;2.07	5.73	4.76	0.60689	.	0.159175	0.40302	N	0.001128	T	0.16085	0.0387	N	0.19112	0.55	0.80722	D	1	P;P	0.49635	0.926;0.926	B;B	0.42882	0.401;0.401	T	0.02471	-1.1154	10	0.87932	D	0	.	12.4986	0.55942	0.081:0.0:0.919:0.0	.	772;778	A6NCP5;Q17R89	.;RHG44_HUMAN	H	778;772	ENSP00000368994:D778H;ENSP00000342566:D772H	ENSP00000342566:D772H	D	+	1	0	ARHGAP44	12834088	1.000000	0.71417	0.177000	0.23020	0.126000	0.20510	7.164000	0.77533	1.429000	0.47314	-0.136000	0.14681	GAT	ARHGAP44	-	NULL		0.542	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	G	NM_014859		12893363	1	no_errors	ENST00000379672	ensembl	human	known	70_37	missense	SNP	0.977	C	C	12893363	G	C	12893363	3	2	58	1	0	0	0	0	1	0	0	0	13387	1290	45	1	2414	1	RICH2	17	12893363	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2335145	12893363	68301847	1067	8817										
NCOR1	9611	genome.wustl.edu	37	chr17	16021223	16021223	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctgtttatgctgctgtaaGaggttgtcaagattgtgtcg	12	5	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:16021223G>A	ENST00000268712.3	-	18	2291	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.L569L|NCOR1_ENST00000395851.1_Silent_p.L678L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	678					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L678L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGCTGTAAGAGGTTGTCAA	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											182	151	161					17																	16021223		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2034C>T	17.37:g.16021223G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L678	ENST00000268712.3	37	c.2034	CCDS11175.1	17																																																																																			NCOR1	-	NULL		0.373	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	G	NM_006311		16021223	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	silent	SNP	0.987	A	A	16021223	G	A	16021223	2	1	58	1	0	0	0	0	0	0	0	1	10259	929	33	1		1	NCOR1	17	16021223	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3127860	16021223	65173987	1068	8818										
SREBF1	6720	genome.wustl.edu	37	chr17	17723446	17723446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctggggtagcctaacacagGggtggagctgaactgcggtg	18	8	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:17723446G>A	ENST00000261646.5	-	2	665	c.481C>T	c.(481-483)Cct>Tct	p.P161S	SREBF1_ENST00000338854.5_Missense_Mutation_p.P161S|SREBF1_ENST00000435530.2_Missense_Mutation_p.P161S|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.P191S|SREBF1_ENST00000583732.1_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	161	Pro/Ser-rich.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.P191S(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCTAACACAGGGGTGGAGCTG	0.687																																																	1	Substitution - Missense(1)	cervix(1)											17	21	19					17																	17723446		2192	4289	6481	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.481C>T	17.37:g.17723446G>A	ENSP00000261646:p.Pro161Ser		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P191S	ENST00000261646.5	37	c.571	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.001284|2.001284	0.35320|0.35320	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.80214	.|0.43;0.48;0.48;-0.16;-1.35	4.58|4.58	2.42|2.42	0.29668|0.29668	.|.	0.369521|0.369521	0.28360|0.28360	N|N	0.015633|0.015633	T|T	0.82051|0.82051	0.4953|0.4953	L|L	0.52759|0.52759	1.655|1.655	0.09310|0.09310	N|N	0.999998|0.999998	.|D;D;B;D	.|0.67145	.|0.993;0.993;0.075;0.996	.|D;D;B;D	.|0.78314	.|0.968;0.968;0.006;0.991	T|T	0.69131|0.69131	-0.5226|-0.5226	6|10	.|0.46703	.|T	.|0.11	-13.6213|-13.6213	2.7667|2.7667	0.05322|0.05322	0.1035:0.1805:0.5304:0.1856|0.1035:0.1805:0.5304:0.1856	.|.	.|161;137;161;191	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	L|S	168|161;191;161;87;161	.|ENSP00000345822:P161S;ENSP00000348069:P191S;ENSP00000261646:P161S;ENSP00000411516:P87S;ENSP00000413389:P161S	.|ENSP00000261646:P161S	P|P	-|-	2|1	0|0	SREBF1|SREBF1	17664171|17664171	0.948000|0.948000	0.32251|0.32251	0.011000|0.011000	0.14972|0.14972	0.656000|0.656000	0.38851|0.38851	2.670000|2.670000	0.46833|0.46833	0.914000|0.914000	0.36822|0.36822	0.555000|0.555000	0.69702|0.69702	CCC|CCT	SREBF1	-	NULL		0.687	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	G	NM_004176		17723446	-1	no_errors	ENST00000355815	ensembl	human	known	70_37	missense	SNP	0.013	A	A	17723446	G	A	17723446	3	1	58	1	0	0	0	0	1	0	0	0	15171	1232	43	4	3034	4	SREBF1	17	17723446	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1702223	17723446	63471764	1069	8819										
SHMT1	6470	genome.wustl.edu	37	chr17	18232688	18232688	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgcagtccactgggccgcaGagcgcttctgtcacctacaa	10	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:18232688G>C	ENST00000316694.3	-	11	1320	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	SHMT1_ENST00000354098.3_Missense_Mutation_p.L357V|SHMT1_ENST00000352886.6_Missense_Mutation_p.L316V|SHMT1_ENST00000539052.1_Missense_Mutation_p.L258V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	396					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.L396V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CTGGGCCGCAGAGCGCTTCTG	0.512																																																	1	Substitution - Missense(1)	cervix(1)											37	38	38					17																	18232688		2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1186C>G	17.37:g.18232688G>C	ENSP00000318868:p.Leu396Val		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.L396V	ENST00000316694.3	37	c.1186	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996845	0.35226	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.52983	0.64;1.49;0.64;1.49	5.52	3.14	0.36123	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.60845	1.875	0.58432	D	0.999998	P;B	0.36483	0.555;0.045	P;B	0.46275	0.51;0.126	T	0.53365	-0.8449	10	0.72032	D	0.01	-15.0407	7.3541	0.26709	0.3578:0.0:0.6422:0.0	.	357;396	P34896-2;P34896	.;GLYC_HUMAN	V	396;171;316;258;357	ENSP00000318868:L396V;ENSP00000345881:L316V;ENSP00000440089:L258V;ENSP00000318805:L357V	ENSP00000318868:L396V	L	-	1	2	SHMT1	18173413	0.985000	0.35326	0.770000	0.31555	0.761000	0.43186	1.976000	0.40579	1.443000	0.47586	0.655000	0.94253	CTG	SHMT1	-	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase		0.512	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	G	NM_004169		18232688	-1	no_errors	ENST00000316694	ensembl	human	known	70_37	missense	SNP	0.531	C	C	18232688	G	C	18232688	3	2	58	1	0	0	0	0	1	0	0	0	14315	933	33	1	273	1	SHMT1	17	18232688	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	509242	18232688	62962522	1070	8820										
FAM18B	51030	genome.wustl.edu	37	chr17	18702243	18702243	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tagtgcactcttctccttcaGagtaaagtggttggtgagta	11	7	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:18702243G>C	ENST00000307767.8	+	5	748	c.449G>C	c.(448-450)aGa>aCa	p.R150T	TVP23B_ENST00000476139.1_Missense_Mutation_p.R86T|TVP23B_ENST00000581733.1_Missense_Mutation_p.R86T|TVP23B_ENST00000574226.1_Missense_Mutation_p.R150T	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	150						integral component of membrane (GO:0016021)		p.R150T(1)									TTCTCCTTCAGAGTAAAGTGG	0.393																																																	1	Substitution - Missense(1)	cervix(1)											187	184	185					17																	18702243		2203	4300	6503	SO:0001583	missense	51030			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.449G>C	17.37:g.18702243G>C	ENSP00000305654:p.Arg150Thr		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	pfam_DUF846_euk	p.R150T	ENST00000307767.8	37	c.449	CCDS42274.1	17	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252069	0.22880	.	.	ENSG00000171928	ENST00000307767	T	0.41400	1.0	3.13	2.02	0.26589	.	0.099330	0.64402	D	0.000002	T	0.30823	0.0777	L	0.49640	1.575	0.30827	N	0.737102	B	0.17852	0.024	B	0.21360	0.034	T	0.17198	-1.0377	10	0.40728	T	0.16	-12.3641	3.8934	0.09128	0.3384:0.0:0.6616:0.0	.	150	Q9NYZ1	F18B1_HUMAN	T	150	ENSP00000305654:R150T	ENSP00000305654:R150T	R	+	2	0	FAM18B1	18642968	1.000000	0.71417	0.953000	0.39169	0.460000	0.32559	3.444000	0.52914	1.573000	0.49748	0.194000	0.17425	AGA	FAM18B1	-	pfam_DUF846_euk		0.393	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM18B1	HGNC	protein_coding	OTTHUMT00000130667.2	G	NM_016078		18702243	1	no_errors	ENST00000307767	ensembl	human	known	70_37	missense	SNP	0.997	C	C	18702243	G	C	18702243	3	2	58	1	0	0	0	0	1	0	0	0	5534	942	33	1	467	1	FAM18B	17	18702243	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	469555	18702243	62492967	1071	8821										
MFAP4	4239	genome.wustl.edu	37	chr17	19289684	19289684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcacaggcacactggggcccGaggggtagatgaggtacacg	17	10	0	2	rs367629703		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:19289684G>C	ENST00000299610.4	-	3	263	c.179C>G	c.(178-180)tCg>tGg	p.S60W	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.S85W|MFAP4_ENST00000395592.2_Missense_Mutation_p.S84W	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	60	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACTGGGGCCCGAGGGGTAGAT	0.617																																																	0													77	58	64					17																	19289684		2203	4300	6503	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.179C>G	17.37:g.19289684G>C	ENSP00000299610:p.Ser60Trp		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.S84W	ENST00000299610.4	37	c.251	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163917	0.57476	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.77750	-1.12;-1.12	5.3	-0.306	0.12780	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.713711	0.12374	N	0.474513	T	0.80433	0.4622	L	0.55990	1.75	0.09310	N	1	D;D	0.57571	0.98;0.98	P;D	0.66196	0.908;0.942	T	0.67300	-0.5705	10	0.66056	D	0.02	.	4.4206	0.11479	0.2342:0.0:0.4911:0.2747	.	60;84	P55083;A8MVM2	MFAP4_HUMAN;.	W	84;60	ENSP00000378957:S84W;ENSP00000299610:S60W	ENSP00000299610:S60W	S	-	2	0	MFAP4	19230277	0.032000	0.19561	0.457000	0.27056	0.970000	0.65996	1.174000	0.31932	-0.047000	0.13423	-0.355000	0.07637	TCG	MFAP4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.617	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	G	NM_002404		19289684	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.006	C	C	19289684	G	C	19289684	3	2	58	1	0	0	0	0	1	0	0	0	9540	1059	37	1	604	1	MFAP4	17	19289684	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	587441	19289684	61905526	1072	8822										
NOS2	4843	genome.wustl.edu	37	chr17	26108115	26108115	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatgctgccatctggcatctGgtagccagcatagcggatga	13	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:26108115G>A	ENST00000313735.6	-	8	1044	c.811C>T	c.(811-813)Cag>Tag	p.Q271*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	271					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Q271*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCTGGCATCTGGTAGCCAGCA	0.642																																																	1	Substitution - Nonsense(1)	cervix(1)											85	74	77					17																	26108115		2203	4300	6503	SO:0001587	stop_gained	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.811C>T	17.37:g.26108115G>A	ENSP00000327251:p.Gln271*		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.Q271*	ENST00000313735.6	37	c.811	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.256919	0.97417	.	.	ENSG00000007171	ENST00000313735;ENST00000302153	.	.	.	5.56	3.55	0.40652	.	0.220688	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0121	0.41992	0.0749:0.14:0.7852:0.0	.	.	.	.	X	271	.	ENSP00000305638:Q271X	Q	-	1	0	NOS2	23132242	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.363000	0.59473	1.324000	0.45282	-0.176000	0.13171	CAG	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.642	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26108115	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	26108115	G	A	26108115	4	1	58	1	0	0	0	0	0	1	0	0	10567	1357	47	4	2730	4	NOS2	17	26108115	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6818431	26108115	55087095	1073	8823										
TAOK1	57551	genome.wustl.edu	37	chr17	27869933	27869933	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgggagtccgcaatagccccCaggctctgaggcggacagct	14	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:27869933C>G	ENST00000261716.3	+	20	3418	c.2899C>G	c.(2899-2901)Cag>Gag	p.Q967E	TAOK1_ENST00000536202.1_Missense_Mutation_p.Q819E	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	967					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.Q967E(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CAATAGCCCCCAGGCTCTGAG	0.587																																																	2	Substitution - Missense(2)	cervix(2)											34	25	28					17																	27869933		2203	4300	6503	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2899C>G	17.37:g.27869933C>G	ENSP00000261716:p.Gln967Glu		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q967E	ENST00000261716.3	37	c.2899	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874968	0.91664	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.75260	-0.85;-0.92	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.63428	1.95	0.31769	N	0.632388	B;P	0.43633	0.066;0.813	B;B	0.38562	0.021;0.276	T	0.77728	-0.2479	10	0.40728	T	0.16	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	819;967	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	E	967;819	ENSP00000261716:Q967E;ENSP00000438819:Q819E	ENSP00000261716:Q967E	Q	+	1	0	TAOK1	24894059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.816000	0.96949	0.561000	0.74099	CAG	TAOK1	-	NULL		0.587	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	C	NM_020791		27869933	1	no_errors	ENST00000261716	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27869933	C	G	27869933	3	3	58	1	0	0	0	0	1	0	0	0	15577	595	21	4	2973	4	TAOK1	17	27869933	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1761818	27869933	53325277	1074	8824										
ANKRD13B	124930	genome.wustl.edu	37	chr17	27939913	27939913	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctccccgcaggtcaccatCtgggaggcgctaaccaacag	11	16	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:27939913C>T	ENST00000394859.3	+	14	1738	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	528						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.I528I(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						AGGTCACCATCTGGGAGGCGC	0.706																																																	1	Substitution - coding silent(1)	cervix(1)											18	21	20					17																	27939913		2196	4298	6494	SO:0001819	synonymous_variant	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1584C>T	17.37:g.27939913C>T			Q8N7S9	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.I528	ENST00000394859.3	37	c.1584	CCDS11251.1	17																																																																																			ANKRD13B	-	NULL		0.706	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	C	NM_152345		27939913	1	no_errors	ENST00000394859	ensembl	human	known	70_37	silent	SNP	0.999	T	T	27939913	C	T	27939913	2	4	58	1	0	0	0	0	0	0	0	1	642	903	32	1		1	ANKRD13B	17	27939913	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	69980	27939913	53255297	1075	8825										
CORO6	84940	genome.wustl.edu	37	chr17	27943334	27943334	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgatgataggttcacactttCtttcgtgtagcttgtagaac	9	7	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:27943334C>G	ENST00000445145.2	-	8	1026	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000456796.3_Missense_Mutation_p.R108T|CORO6_ENST00000584969.1_Missense_Mutation_p.R342T|CORO6_ENST00000388767.3_Missense_Mutation_p.R342T|CORO6_ENST00000580212.1_Missense_Mutation_p.R302T|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000345068.5_Missense_Mutation_p.R342T			Q6QEF8	CORO6_HUMAN	coronin 6	342					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.R342T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TTCACACTTTCTTTCGTGTAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											82	69	73					17																	27943334		2202	4299	6501	SO:0001583	missense	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1025G>C	17.37:g.27943334C>G	ENSP00000393624:p.Arg342Thr		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R342T	ENST00000445145.2	37	c.1025		17	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920754	0.52653	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145;ENST00000456796	T;T;T	0.28255	1.62;1.62;1.62	5.29	5.29	0.74685	.	0.453272	0.24686	N	0.036432	T	0.48995	0.1531	L	0.39397	1.21	0.53688	D	0.999973	D;P	0.89917	1.0;0.491	D;B	0.74674	0.984;0.321	T	0.49560	-0.8927	10	0.87932	D	0	-1.0867	18.5558	0.91083	0.0:1.0:0.0:0.0	.	108;342	Q6QEF8-4;Q6QEF8-5	.;.	T	413;342;342;108	ENSP00000373419:R342T;ENSP00000393624:R342T;ENSP00000403019:R108T	ENSP00000344562:R413T	R	-	2	0	CORO6	24967460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.825000	0.62708	2.460000	0.83146	0.655000	0.94253	AGA	CORO6	-	pfam_DUF1900		0.582	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	C	NM_032854		27943334	-1	no_errors	ENST00000345068	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27943334	C	G	27943334	3	3	58	1	0	0	0	0	1	0	0	0	3763	913	32	1	405	1	CORO6	17	27943334	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3421	27943334	53251876	1076	8826										
C17orf75	64149	genome.wustl.edu	37	chr17	30669148	30669148	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catccatcgactcctgcaaaGaggggagcattgcggcggcc	13	13	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:30669148G>C	ENST00000577809.1	-	1	60	c.11C>G	c.(10-12)tCt>tGt	p.S4C	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S4C	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	4										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCCTGCAAAGAGGGGAGCAT	0.662																																																	0													24	29	27					17																	30669148		1976	4145	6121	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.11C>G	17.37:g.30669148G>C	ENSP00000464275:p.Ser4Cys		Q7Z2H4	Missense_Mutation	SNP	NULL	p.S4C	ENST00000577809.1	37	c.11	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419793	0.25552	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.99	4.02	0.46733	.	0.057123	0.64402	D	0.000001	T	0.65533	0.2700	L	0.43152	1.355	0.39550	D	0.968966	D	0.76494	0.999	D	0.65443	0.935	T	0.69741	-0.5063	9	0.87932	D	0	-12.34	11.4597	0.50202	0.0844:0.0:0.9156:0.0	.	4	Q9HAS0	NJMU_HUMAN	C	4	.	ENSP00000225805:S4C	S	-	2	0	C17orf75	27693261	0.999000	0.42202	0.825000	0.32803	0.421000	0.31385	3.309000	0.51903	1.322000	0.45245	0.455000	0.32223	TCT	C17orf75	-	NULL		0.662	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	G	NM_022344		30669148	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	0.944	C	C	30669148	G	C	30669148	3	2	58	1	0	0	0	0	1	0	0	0	1884	942	33	1	1219	1	C17orf75	17	30669148	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2725814	30669148	50526062	1077	8827										
CCT6B	10693	genome.wustl.edu	37	chr17	33266229	33266229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatggcatttttgatagcacGaagtccatctcttatggcat	8	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:33266229G>A	ENST00000314144.5	-	10	1301	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	CCT6B_ENST00000436961.3_Missense_Mutation_p.R351C|CCT6B_ENST00000421975.3_Missense_Mutation_p.R359C	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	396					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.R396C(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTGATAGCACGAAGTCCATCT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											260	223	236					17																	33266229		2203	4300	6503	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1186C>T	17.37:g.33266229G>A	ENSP00000327191:p.Arg396Cys		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.R396C	ENST00000314144.5	37	c.1186	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787925	0.49997	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.79352	-1.26;-1.26;-1.26	4.47	2.43	0.29744	.	0.196490	0.53938	D	0.000044	T	0.76666	0.4019	M	0.62154	1.92	0.58432	D	0.999999	B;P;D	0.52996	0.314;0.734;0.957	B;P;P	0.48982	0.435;0.467;0.597	T	0.75827	-0.3180	10	0.87932	D	0	-0.1435	7.6551	0.28371	0.0948:0.1673:0.7379:0.0	.	351;359;396	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	C	359;396;351	ENSP00000398044:R359C;ENSP00000327191:R396C;ENSP00000400917:R351C	ENSP00000327191:R396C	R	-	1	0	CCT6B	30290342	1.000000	0.71417	0.984000	0.44739	0.788000	0.44548	4.602000	0.61098	0.601000	0.29879	0.557000	0.71058	CGT	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	G	NM_006584		33266229	-1	no_errors	ENST00000314144	ensembl	human	known	70_37	missense	SNP	0.998	A	A	33266229	G	A	33266229	3	1	58	1	0	0	0	0	1	0	0	0	2963	1058	37	1	426	1	CCT6B	17	33266229	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2597081	33266229	47928981	1078	8828										
SLFN5	162394	genome.wustl.edu	37	chr17	33586072	33586072	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccaatttgtaccacagagaGagaacatccaccgatgtcat	7	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:33586072G>C	ENST00000299977.4	+	2	511	c.363G>C	c.(361-363)gaG>gaC	p.E121D	SLFN5_ENST00000542451.1_Missense_Mutation_p.E121D|SLFN5_ENST00000592325.1_Missense_Mutation_p.E121D	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	121					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E121D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACCACAGAGAGAGAACATCCA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											111	110	110					17																	33586072		2203	4300	6503	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.363G>C	17.37:g.33586072G>C	ENSP00000299977:p.Glu121Asp		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.E121D	ENST00000299977.4	37	c.363	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.220145	0.01542	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.06294	4.59;3.32	3.76	0.0745	0.14395	.	2.741300	0.01589	N	0.021455	T	0.02230	0.0069	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38045	-0.9679	10	0.20046	T	0.44	.	4.9044	0.13791	0.0:0.1342:0.4671:0.3986	.	121;121;121	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	D	121	ENSP00000299977:E121D;ENSP00000440537:E121D	ENSP00000299977:E121D	E	+	3	2	SLFN5	30610185	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.084000	0.14891	-0.091000	0.12440	0.655000	0.94253	GAG	SLFN5	-	NULL		0.428	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	G	NM_144975		33586072	1	no_errors	ENST00000299977	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33586072	G	C	33586072	3	2	58	1	0	0	0	0	1	0	0	0	14767	933	33	1	365	1	SLFN5	17	33586072	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	319843	33586072	47609138	1079	8829										
C17orf66	256957	genome.wustl.edu	37	chr17	34185207	34185207	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctttggtctcacttacaagGaagggttcattatgcgtctt	10	8	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:34185207G>C	ENST00000311880.2	-	11	1297	c.1149C>G	c.(1147-1149)ttC>ttG	p.F383L	C17orf66_ENST00000592980.1_Missense_Mutation_p.F343L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		383					hematopoietic progenitor cell differentiation (GO:0002244)			p.F383L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACTTACAAGGAAGGGTTCAT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											248	246	246					17																	34185207		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.1149C>G	17.37:g.34185207G>C	ENSP00000309560:p.Phe383Leu		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F383L	ENST00000311880.2	37	c.1149	CCDS11299.1	17	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650549	0.14516	.	.	ENSG00000172653	ENST00000311880	T	0.17213	2.29	3.6	-2.48	0.06423	Armadillo-like helical (1);Armadillo-type fold (1);	0.170083	0.28398	N	0.015484	T	0.08582	0.0213	N	0.24115	0.695	0.24462	N	0.994437	B;B;B	0.25563	0.106;0.106;0.129	B;B;B	0.30782	0.073;0.05;0.12	T	0.40683	-0.9550	10	0.11485	T	0.65	.	7.6349	0.28261	0.5554:0.0:0.4446:0.0	.	349;343;383	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	L	383	ENSP00000309560:F383L	ENSP00000309560:F383L	F	-	3	2	C17orf66	31209320	0.948000	0.32251	0.730000	0.30809	0.393000	0.30537	0.813000	0.27225	-0.592000	0.05851	0.305000	0.20034	TTC	C17orf66	-	superfamily_ARM-type_fold		0.517	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1	G			34185207	-1	no_errors	ENST00000311880	ensembl	human	known	70_37	missense	SNP	0.472	C	C	34185207	G	C	34185207	3	2	58	1	0	0	0	0	1	0	0	0	1878	1165	41	1	583	1	C17orf66	17	34185207	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	599135	34185207	47010003	1080	8830										
AATF	26574	genome.wustl.edu	37	chr17	35346678	35346678	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcaaacctgagccagcagctCagcctgtcccagagagtttg	11	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:35346678C>T	ENST00000225402.5	+	7	1533	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	428	RB1 and SP1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q428*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GCCAGCAGCTCAGCCTGTCCC	0.463																																					NSCLC(49;901 1159 19183 41572 46244)												1	Substitution - Nonsense(1)	cervix(1)											121	127	125					17																	35346678		2203	4300	6503	SO:0001587	stop_gained	26574			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1282C>T	17.37:g.35346678C>T	ENSP00000225402:p.Gln428*		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Nonsense_Mutation	SNP	pfam_AATF_C	p.Q428*	ENST00000225402.5	37	c.1282	CCDS32632.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.184410	0.97357	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.2	3.07	0.35406	.	0.404283	0.27768	N	0.017921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.839	15.5582	0.76216	0.0:0.5988:0.4012:0.0	.	.	.	.	X	428	.	ENSP00000225402:Q428X	Q	+	1	0	AATF	32420791	0.000000	0.05858	0.715000	0.30552	0.680000	0.39746	0.597000	0.24059	1.144000	0.42321	0.467000	0.42956	CAG	AATF	-	NULL		0.463	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	C	NM_012138		35346678	1	no_errors	ENST00000225402	ensembl	human	known	70_37	nonsense	SNP	0.188	T	T	35346678	C	T	35346678	4	4	58	1	0	0	0	0	0	1	0	0	25	827	29	1	1308	1	AATF	17	35346678	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1161471	35346678	45848532	1081	8831										
GPR179	440435	genome.wustl.edu	37	chr17	36485974	36485974	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggagcatcctgctggtgtGagcgttctgttggttctgga	15	7	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:36485974G>A	ENST00000342292.4	-	11	3498	c.3478C>T	c.(3478-3480)Cac>Tac	p.H1160Y	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1160					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H1160Y(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCTGGTGTGAGCGTTCTGT	0.607																																																	1	Substitution - Missense(1)	cervix(1)											174	176	175					17																	36485974		2138	4242	6380	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3478C>T	17.37:g.36485974G>A	ENSP00000345060:p.His1160Tyr			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.H1160Y	ENST00000342292.4	37	c.3478	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964808	0.53507	.	.	ENSG00000188888	ENST00000342292	T	0.56941	0.43	5.27	3.28	0.37604	.	0.105841	0.42682	N	0.000675	T	0.57961	0.2089	L	0.32530	0.975	0.27330	N	0.956801	D	0.76494	0.999	D	0.75484	0.986	T	0.50197	-0.8856	10	0.66056	D	0.02	-11.3654	9.0657	0.36462	0.1723:0.0:0.8277:0.0	.	1160	Q6PRD1	GP179_HUMAN	Y	1160	ENSP00000345060:H1160Y	ENSP00000345060:H1160Y	H	-	1	0	GPR179	33739500	0.000000	0.05858	0.978000	0.43139	0.969000	0.65631	0.169000	0.16641	0.782000	0.33613	0.462000	0.41574	CAC	GPR179	-	NULL		0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	G			36485974	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.630	A	A	36485974	G	A	36485974	3	1	58	1	0	0	0	0	1	0	0	0	6693	1290	45	1	3629	1	GPR179	17	36485974	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1139296	36485974	44709236	1082	8832										
GPR179	440435	genome.wustl.edu	37	chr17	36498924	36498924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgagtccatagaaggtggcaGagagtgtgatcagccatcca	13	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:36498924G>A	ENST00000342292.4	-	1	769	c.749C>T	c.(748-750)tCt>tTt	p.S250F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	250					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S250F(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAAGGTGGCAGAGAGTGTGAT	0.562																																																	1	Substitution - Missense(1)	cervix(1)											99	104	102					17																	36498924		2111	4234	6345	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.749C>T	17.37:g.36498924G>A	ENSP00000345060:p.Ser250Phe			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.S250F	ENST00000342292.4	37	c.749	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476621	0.84640	.	.	ENSG00000188888	ENST00000342292	T	0.59364	0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000004	T	0.78285	0.4259	M	0.82823	2.61	0.52099	D	0.999946	D	0.89917	1.0	D	0.72625	0.978	T	0.81048	-0.1109	10	0.87932	D	0	-7.6669	17.8981	0.88895	0.0:0.0:1.0:0.0	.	250	Q6PRD1	GP179_HUMAN	F	250	ENSP00000345060:S250F	ENSP00000345060:S250F	S	-	2	0	GPR179	33752450	1.000000	0.71417	0.948000	0.38648	0.976000	0.68499	9.154000	0.94694	2.837000	0.97791	0.655000	0.94253	TCT	GPR179	-	NULL		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	G			36498924	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36498924	G	A	36498924	3	1	58	1	0	0	0	0	1	0	0	0	6693	942	33	1	6398	1	GPR179	17	36498924	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	12950	36498924	44696286	1083	8833										
FBXL20	84961	genome.wustl.edu	37	chr17	37499465	37499465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctttgggaagttttttattGattacagcttcatcactatt	6	6	3	1	rs374565541		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:37499465G>C	ENST00000264658.6	-	2	332	c.72C>G	c.(70-72)atC>atG	p.I24M	FBXL20_ENST00000583610.1_Missense_Mutation_p.I24M|FBXL20_ENST00000577399.1_Missense_Mutation_p.I26M|FBXL20_ENST00000394294.3_Missense_Mutation_p.I24M	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	24	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.I24M(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTTTTTTATTGATTACAGCTT	0.284																																																	1	Substitution - Missense(1)	cervix(1)											99	98	98					17																	37499465		2203	4294	6497	SO:0001583	missense	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.72C>G	17.37:g.37499465G>C	ENSP00000264658:p.Ile24Met		A8K729|Q38J52	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.I24M	ENST00000264658.6	37	c.72	CCDS32640.1	17	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229602	0.58777	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.13778	2.62;2.56	5.53	3.54	0.40534	F-box domain, cyclin-like (1);	0.103809	0.64402	D	0.000005	T	0.17789	0.0427	L	0.38953	1.18	0.54753	D	0.999985	D;B	0.53151	0.958;0.411	P;P	0.52424	0.698;0.695	T	0.00822	-1.1552	10	0.66056	D	0.02	.	9.9268	0.41496	0.1614:0.0:0.8386:0.0	.	24;24	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	M	24	ENSP00000264658:I24M;ENSP00000377832:I24M	ENSP00000264658:I24M	I	-	3	3	FBXL20	34752991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.848000	0.39309	0.697000	0.31718	0.643000	0.83706	ATC	FBXL20	-	pfscan_F-box_dom_cyclin-like		0.284	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	G	NM_032875		37499465	-1	no_errors	ENST00000264658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37499465	G	C	37499465	3	2	58	1	0	0	0	0	1	0	0	0	5735	1280	45	1	1294	1	FBXL20	17	37499465	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1000541	37499465	43695745	1084	8834										
MED1	5469	genome.wustl.edu	37	chr17	37565328	37565328	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caacacctgggggagtctgaGatcttcctgcactgcctggc	12	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:37565328G>C	ENST00000300651.6	-	17	3369	c.3146C>G	c.(3145-3147)tCt>tGt	p.S1049C	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.S1049C(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGGAGTCTGAGATCTTCCTGC	0.502										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												1	Substitution - Missense(1)	cervix(1)											125	121	122					17																	37565328		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3146C>G	17.37:g.37565328G>C	ENSP00000300651:p.Ser1049Cys		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S1049C	ENST00000300651.6	37	c.3146	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731706	0.48939	.	.	ENSG00000125686	ENST00000300651	T	0.43294	0.95	5.87	4.9	0.64082	.	.	.	.	.	T	0.53578	0.1805	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59674	-0.7410	9	0.66056	D	0.02	-4.974	17.5919	0.87999	0.0:0.1232:0.8768:0.0	.	1049	Q15648	MED1_HUMAN	C	1049	ENSP00000300651:S1049C	ENSP00000300651:S1049C	S	-	2	0	MED1	34818854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.677000	0.84024	1.601000	0.50113	0.655000	0.94253	TCT	MED1	-	NULL		0.502	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	G	NM_004774		37565328	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37565328	G	C	37565328	3	2	58	1	0	0	0	0	1	0	0	0	9448	942	33	1	1603	1	MED1	17	37565328	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	65863	37565328	43629882	1085	8835										
KRT31	3881	genome.wustl.edu	37	chr17	39550303	39550303	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	attgcagggcccacagcgggGgcgtggggcacagggtgtgc	20	10	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:39550303G>C	ENST00000251645.2	-	7	1268	c.1216C>G	c.(1216-1218)Ccc>Gcc	p.P406A		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	406	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.P406A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCACAGCGGGGGCGTGGGGCA	0.637																																																	2	Substitution - Missense(2)	cervix(2)											68	59	62					17																	39550303		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1216C>G	17.37:g.39550303G>C	ENSP00000251645:p.Pro406Ala		Q9UE12	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.P406A	ENST00000251645.2	37	c.1216	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	g	11.25	1.583778	0.28268	.	.	ENSG00000094796	ENST00000251645	T	0.80393	-1.37	5.52	0.744	0.18353	.	0.962194	0.08590	N	0.923212	T	0.61426	0.2346	N	0.11756	0.17	0.25643	N	0.986174	B	0.19583	0.037	B	0.17979	0.02	T	0.46020	-0.9221	10	0.20046	T	0.44	.	6.5043	0.22186	0.4636:0.0:0.5364:0.0	.	406	Q15323	K1H1_HUMAN	A	406	ENSP00000251645:P406A	ENSP00000251645:P406A	P	-	1	0	KRT31	36803829	0.456000	0.25744	0.840000	0.33206	0.979000	0.70002	0.406000	0.21032	0.292000	0.22492	0.655000	0.94253	CCC	KRT31	-	NULL		0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	G	NM_002277		39550303	-1	no_errors	ENST00000251645	ensembl	human	known	70_37	missense	SNP	0.465	C	C	39550303	G	C	39550303	3	2	58	1	0	0	0	0	1	0	0	0	8487	1232	43	4	38	4	KRT31	17	39550303	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1984975	39550303	41644907	1086	8836										
ACLY	47	genome.wustl.edu	37	chr17	40054047	40054047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctttgcaggcgccacctcatCggccctggactcagaaaaag	10	14	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:40054047C>T	ENST00000352035.2	-	13	1514	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	ACLY_ENST00000537919.1_Missense_Mutation_p.D201N|ACLY_ENST00000393896.2_Missense_Mutation_p.D462N|ACLY_ENST00000353196.1_Missense_Mutation_p.D462N|ACLY_ENST00000590151.1_Missense_Mutation_p.D462N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	462					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.D462N(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCACCTCATCGGCCCTGGAC	0.572																																					Colon(64;807 1396 15971 30971)												1	Substitution - Missense(1)	cervix(1)											46	43	44					17																	40054047		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1384G>A	17.37:g.40054047C>T	ENSP00000253792:p.Asp462Asn		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.D462N	ENST00000352035.2	37	c.1384	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800430	0.50315	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88431	-1.37;-1.4;-2.38;-1.4	5.52	5.52	0.82312	.	0.376698	0.31312	N	0.007880	T	0.76162	0.3949	N	0.03608	-0.345	0.44018	D	0.996736	B;B;B;B;B	0.26318	0.001;0.146;0.0;0.0;0.0	B;B;B;B;B	0.14578	0.0;0.011;0.0;0.001;0.0	T	0.73023	-0.4113	10	0.14252	T	0.57	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	201;516;516;462;462	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	N	462;516;462;201;462	ENSP00000253792:D462N;ENSP00000345398:D462N;ENSP00000445349:D201N;ENSP00000377474:D462N	ENSP00000253792:D462N	D	-	1	0	ACLY	37307573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.875000	0.56108	2.595000	0.87683	0.655000	0.94253	GAT	ACLY	-	pirsf_ATP-citrate_synthase		0.572	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	C	NM_001096		40054047	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40054047	C	T	40054047	3	4	58	1	0	0	0	0	1	0	0	0	143	884	31	1	1989	1	ACLY	17	40054047	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	503744	40054047	41141163	1087	8837										
GHDC	84514	genome.wustl.edu	37	chr17	40342259	40342259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctcagcgccacaaacacctCgtagtggggagcagagcccg	12	15	1	1	rs369509799		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:40342259C>T	ENST00000301671.8	-	8	1759	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	GHDC_ENST00000587427.1_Missense_Mutation_p.E440K|GHDC_ENST00000414034.3_Silent_p.T469T|GHDC_ENST00000428494.2_Missense_Mutation_p.E401K|GHDC_ENST00000436923.2_Silent_p.T469T|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.E440K			Q8N2G8	GHDC_HUMAN	GH3 domain containing	440						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E440K(1)|p.T469T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ACAAACACCTCGTAGTGGGGA	0.557																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)						C	LYS/GLU,,LYS/GLU	0,4406		0,0,2203	122	116	118		1201,1407,1318	4.6	1	17		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,coding-synonymous,missense	GHDC	NM_001142622.1,NM_001142623.1,NM_032484.4	56,,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	401/492,469/475,440/531	40342259	1,13005	2203	4300	6503	SO:0001583	missense	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1318G>A	17.37:g.40342259C>T	ENSP00000301671:p.Glu440Lys		B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.E440K	ENST00000301671.8	37	c.1318	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235489	0.79800	0.0	1.16E-4	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000301671	.	.	.	4.59	4.59	0.56863	.	0.153289	0.45606	D	0.000351	T	0.66458	0.2791	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.834;0.996	T	0.59768	-0.7392	8	0.08179	T	0.78	-21.7158	16.1476	0.81580	0.0:1.0:0.0:0.0	.	401;440	E9PDB5;Q8N2G8	.;GHDC_HUMAN	K	384;401;440	.	ENSP00000301671:E440K	E	-	1	0	GHDC	37595785	0.999000	0.42202	1.000000	0.80357	0.912000	0.54170	3.465000	0.53064	2.391000	0.81399	0.555000	0.69702	GAG	GHDC	-	pfam_GH3		0.557	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	C	NM_032484		40342259	-1	no_errors	ENST00000301671	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40342259	C	T	40342259	3	4	58	1	0	0	0	0	1	0	0	0	6388	893	31	1	282	1	GHDC	17	40342259	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	288212	40342259	40852951	1088	8838										
RPL27	6155	genome.wustl.edu	37	chr17	41154798	41154798	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gccaaggtcaagtttgaagaGaggtaagtaggctttggtag	15	4	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:41154798G>C	ENST00000589913.1	+	3	634	c.360G>C	c.(358-360)gaG>gaC	p.E120D	RPL27_ENST00000253788.5_Missense_Mutation_p.E120D|RPL27_ENST00000590864.1_Missense_Mutation_p.E64D|RPL27_ENST00000589037.1_Missense_Mutation_p.E120D			P61353	RL27_HUMAN	ribosomal protein L27	120					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E120D(1)		cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AGTTTGAAGAGAGGTAAGTAG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											108	111	110					17																	41154798		2203	4300	6503	SO:0001583	missense	6155				CCDS11449.1	17q21	2011-04-06				ENSG00000131469		"L ribosomal proteins"	10328	protein-coding gene	gene with protein product	"60S ribosomal protein L27"	607526				1302024	Standard	NM_000988		Approved	L27	uc002icj.3	P61353		ENST00000589913.1:c.360G>C	17.37:g.41154798G>C	ENSP00000464813:p.Glu120Asp		P08526|Q4G0A9	Missense_Mutation	SNP	pfam_Ribosomal_L27e,pfam_KOW,smart_KOW	p.E120D	ENST00000589913.1	37	c.360	CCDS11449.1	17	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038024	0.54896	.	.	ENSG00000131469	ENST00000253788	.	.	.	4.89	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.46567	1.45	0.58432	D	0.999997	B	0.11235	0.004	B	0.16289	0.015	T	0.53830	-0.8383	9	0.51188	T	0.08	-19.2438	10.7277	0.46079	0.1545:0.0:0.8455:0.0	.	120	P61353	RL27_HUMAN	D	120	.	ENSP00000253788:E120D	E	+	3	2	RPL27	38408324	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.371000	0.34250	1.405000	0.46838	0.650000	0.86243	GAG	RPL27	-	pfam_Ribosomal_L27e		0.448	RPL27-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL27	HGNC	protein_coding	OTTHUMT00000452472.1	G	NM_000988		41154798	1	no_errors	ENST00000253788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41154798	G	C	41154798	3	2	58	1	0	0	0	0	1	0	0	0	13605	933	33	1	370	1	RPL27	17	41154798	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	812539	41154798	40040412	1089	8839										
BRCA1	672	genome.wustl.edu	37	chr17	41226417	41226417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agactcttccagctgttgctCctccacatcaacaaccttaa	4	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:41226417C>T	ENST00000357654.3	-	14	4724	c.4606G>A	c.(4606-4608)Gag>Aag	p.E1536K	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.E27K|BRCA1_ENST00000352993.3_Missense_Mutation_p.E394K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1557K|BRCA1_ENST00000309486.4_Missense_Mutation_p.E1240K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E432K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E432K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E353K|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1489K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1536					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1536K(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCTGTTGCTCCTCCACATCA	0.438			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Missense(1)	cervix(1)											146	155	152					17																	41226417		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4606G>A	17.37:g.41226417C>T	ENSP00000350283:p.Glu1536Lys		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E1557K	ENST00000357654.3	37	c.4669	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097901	0.20552	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D;D	0.91011	-2.36;-2.44;-2.51;-2.25;-2.35;-2.77;-2.48;-2.25;-2.2;-1.97;-2.39	4.94	-2.12	0.07165	.	1.094810	0.07043	N	0.830574	D	0.83166	0.5195	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.001;0.001;0.0;0.001;0.001;0.006;0.001	B;B;B;B;B;B;B;B	0.15870	0.001;0.002;0.001;0.007;0.002;0.003;0.006;0.014	T	0.67883	-0.5555	10	0.38643	T	0.18	.	6.6007	0.22699	0.0:0.5517:0.1244:0.324	.	432;385;431;433;432;1558;1536;1536	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	K	1536;1557;394;353;1240;432;385;1558;1489;431;432;307;386	ENSP00000350283:E1536K;ENSP00000312236:E394K;ENSP00000338007:E353K;ENSP00000310938:E1240K;ENSP00000417148:E432K;ENSP00000377294:E385K;ENSP00000418775:E1489K;ENSP00000420705:E431K;ENSP00000420412:E432K;ENSP00000419481:E307K;ENSP00000418819:E386K	ENSP00000310938:E1240K	E	-	1	0	BRCA1	38479943	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.218000	0.09240	-0.195000	0.10382	-2.033000	0.00422	GAG	BRCA1	-	pirsf_BRCA1		0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41226417	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	0.000	T	T	41226417	C	T	41226417	3	4	58	1	0	0	0	0	1	0	0	0	1501	864	30	1	1025	1	BRCA1	17	41226417	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	71619	41226417	39968793	1090	8840										
NBR1	4077	genome.wustl.edu	37	chr17	41345409	41345409	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actttggcttccacagaaaaGaaggatgttttggttccctg	10	8	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:41345409G>C	ENST00000422280.1	+	12	1737	c.1278G>C	c.(1276-1278)aaG>aaC	p.K426N	NBR1_ENST00000389312.4_Missense_Mutation_p.K426N|NBR1_ENST00000589872.1_Missense_Mutation_p.K426N|NBR1_ENST00000590996.1_Missense_Mutation_p.K426N|NBR1_ENST00000341165.6_Missense_Mutation_p.K426N|NBR1_ENST00000542611.1_Missense_Mutation_p.K405N	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	426					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K426N(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCACAGAAAAGAAGGATGTTT	0.498																																																	1	Substitution - Missense(1)	cervix(1)											108	105	106					17																	41345409		1924	4125	6049	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1278G>C	17.37:g.41345409G>C	ENSP00000411250:p.Lys426Asn		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.K426N	ENST00000422280.1	37	c.1278	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805272	0.50315	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46063	1.47;0.88;1.47;1.47	6.17	4.12	0.48240	.	0.449748	0.24642	N	0.036788	T	0.45915	0.1366	L	0.56769	1.78	0.36450	D	0.866004	B;B;P;B	0.37500	0.411;0.177;0.597;0.177	B;B;P;B	0.44518	0.265;0.184;0.452;0.239	T	0.52946	-0.8507	10	0.42905	T	0.14	-4.8018	11.3723	0.49707	0.0639:0.3532:0.5828:0.0	.	426;405;426;426	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	N	426;405;426;426;426	ENSP00000411250:K426N;ENSP00000437545:K405N;ENSP00000343479:K426N;ENSP00000373963:K426N	ENSP00000343479:K426N	K	+	3	2	NBR1	38598935	0.849000	0.29639	1.000000	0.80357	0.991000	0.79684	1.137000	0.31479	0.868000	0.35678	0.655000	0.94253	AAG	NBR1	-	NULL		0.498	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	G	NM_005899		41345409	1	no_errors	ENST00000341165	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41345409	G	C	41345409	3	2	58	1	0	0	0	0	1	0	0	0	10224	933	33	1	1320	1	NBR1	17	41345409	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	118992	41345409	39849801	1091	8841										
DCAKD	79877	genome.wustl.edu	37	chr17	43101914	43101914	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctccagggagcgctccagctCagtgtgcaagaggatgacct	13	12	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:43101914C>G	ENST00000452796.2	-	4	838	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	DCAKD_ENST00000342350.5_Missense_Mutation_p.E195Q|DCAKD_ENST00000588499.1_Missense_Mutation_p.E195Q			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	195	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)	p.E195Q(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CGCTCCAGCTCAGTGTGCAAG	0.627																																																	1	Substitution - Missense(1)	cervix(1)											83	72	76					17																	43101914		2203	4300	6503	SO:0001583	missense	79877			BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.583G>C	17.37:g.43101914C>G	ENSP00000413483:p.Glu195Gln		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase	p.E195Q	ENST00000452796.2	37	c.583	CCDS11493.1	17	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486601	0.04352	.	.	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.44881	0.91;0.91	4.86	-3.25	0.05079	.	0.495523	0.24301	N	0.039721	T	0.18002	0.0432	N	0.16016	0.355	0.23903	N	0.996517	B	0.09022	0.002	B	0.04013	0.001	T	0.27331	-1.0077	10	0.12766	T	0.61	-8.7435	8.3507	0.32301	0.0:0.2827:0.4144:0.3029	.	195	Q8WVC6	DCAKD_HUMAN	Q	195	ENSP00000341504:E195Q;ENSP00000413483:E195Q	ENSP00000341504:E195Q	E	-	1	0	DCAKD	40457440	0.035000	0.19736	0.025000	0.17156	0.294000	0.27393	0.234000	0.17930	-0.309000	0.08779	0.542000	0.68232	GAG	DCAKD	-	NULL		0.627	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DCAKD	HGNC	protein_coding	OTTHUMT00000449066.1	C	NM_024819		43101914	-1	no_errors	ENST00000342350	ensembl	human	known	70_37	missense	SNP	0.004	G	G	43101914	C	G	43101914	3	3	58	1	0	0	0	0	1	0	0	0	4284	835	29	1	116	1	DCAKD	17	43101914	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1756505	43101914	38093296	1092	8842										
ITGB3	3690	genome.wustl.edu	37	chr17	45368382	45368382	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagagttgtctctatccttCaatgccacctgcctcaacaa	6	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:45368382C>G	ENST00000559488.1	+	9	1204	c.1188C>G	c.(1186-1188)ttC>ttG	p.F396L	ITGB3_ENST00000571680.1_Missense_Mutation_p.F396L|ITGB3_ENST00000435993.2_Missense_Mutation_p.F349L|ITGB3_ENST00000560629.1_Missense_Mutation_p.Q385E	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	396					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.F396L(1)|p.F349L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CTCTATCCTTCAATGCCACCT	0.507																																																	2	Substitution - Missense(2)	cervix(2)											135	115	121					17																	45368382		2203	4300	6503	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1188C>G	17.37:g.45368382C>G	ENSP00000452786:p.Phe396Leu		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.F396L	ENST00000559488.1	37	c.1188	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544045	0.86022	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	T	0.65549	-0.16	5.33	4.35	0.52113	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.81112	2.525	0.80722	D	1	D;D	0.69078	0.965;0.997	P;D	0.63381	0.779;0.914	T	0.78336	-0.2243	10	0.87932	D	0	.	9.8815	0.41236	0.0:0.8383:0.0:0.1617	.	396;396	P05106;Q2YFE1	ITB3_HUMAN;.	L	396;349	ENSP00000407801:F349L	ENSP00000262017:F396L	F	+	3	2	C17orf57	42723381	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.039000	0.41193	2.494000	0.84150	0.462000	0.41574	TTC	ITGB3	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.507	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	C	NM_000212		45368382	1	no_errors	ENST00000262017	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45368382	C	G	45368382	3	3	58	1	0	0	0	0	1	0	0	0	7915	825	29	1	1222	1	ITGB3	17	45368382	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2266468	45368382	35826828	1093	8843										
SCRN2	90507	genome.wustl.edu	37	chr17	45918126	45918126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggtccgagttcttggcaaaGatcacagccgggatggctga	14	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:45918126G>A	ENST00000290216.9	-	2	209	c.84C>T	c.(82-84)atC>atT	p.I28I	SCRN2_ENST00000407215.3_Silent_p.I28I|SCRN2_ENST00000584123.1_Silent_p.I36I	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	28						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.I28I(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TCTTGGCAAAGATCACAGCCG	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											32	37	35					17																	45918126		2203	4300	6503	SO:0001819	synonymous_variant	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.84C>T	17.37:g.45918126G>A			A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.I28	ENST00000290216.9	37	c.84	CCDS11519.1	17																																																																																			SCRN2	-	NULL		0.662	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918126	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45918126	G	A	45918126	2	1	58	1	0	0	0	0	0	0	0	1	13969	932	33	1		1	SCRN2	17	45918126	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	549744	45918126	35277084	1094	8844										
CDK5RAP3	80279	genome.wustl.edu	37	chr17	46052532	46052532	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggcacttctcagtggaactCtctagcctcctggttcggaa	11	12	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46052532C>G	ENST00000338399.4	+	6	448	c.342C>G	c.(340-342)ctC>ctG	p.L114L	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Silent_p.L139L	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	114					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.L114L(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAGTGGAACTCTCTAGCCTCC	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											96	92	93					17																	46052532		2007	4183	6190	SO:0001819	synonymous_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.342C>G	17.37:g.46052532C>G			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	pfam_DUF773	p.L114	ENST00000338399.4	37	c.342	CCDS42356.1	17																																																																																			CDK5RAP3	-	pfam_DUF773		0.552	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	C	NM_176096		46052532	1	no_errors	ENST00000338399	ensembl	human	known	70_37	silent	SNP	1.000	G	G	46052532	C	G	46052532	2	3	58	1	0	0	0	0	0	0	0	1	3152	900	32	1		1	CDK5RAP3	17	46052532	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	134406	46052532	35142678	1095	8845										
CDK5RAP3	80279	genome.wustl.edu	37	chr17	46052645	46052645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caaggaggaggagtgccaggCaggggctgccgagatgcggg	21	8	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46052645C>A	ENST00000338399.4	+	6	561	c.455C>A	c.(454-456)gCa>gAa	p.A152E	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A177E	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	152					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.A152E(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GAGTGCCAGGCAGGGGCTGCC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											52	58	56					17																	46052645		2049	4188	6237	SO:0001583	missense	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.455C>A	17.37:g.46052645C>A	ENSP00000344683:p.Ala152Glu		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.A152E	ENST00000338399.4	37	c.455	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438344	0.25900	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.41065	1.01;1.01	5.47	3.25	0.37280	.	0.454912	0.25022	N	0.033746	T	0.22742	0.0549	N	0.22421	0.69	0.33605	D	0.602823	B;B	0.32467	0.027;0.372	B;B	0.36719	0.012;0.231	T	0.16689	-1.0394	10	0.14252	T	0.57	-9.988	1.2437	0.01968	0.2302:0.3963:0.2241:0.1495	.	65;152	Q96JB5-2;Q96JB5	.;CK5P3_HUMAN	E	177;152	ENSP00000438886:A177E;ENSP00000344683:A152E	ENSP00000344683:A152E	A	+	2	0	CDK5RAP3	43407644	0.994000	0.37717	0.994000	0.49952	0.995000	0.86356	2.405000	0.44548	1.295000	0.44724	0.655000	0.94253	GCA	CDK5RAP3	-	pfam_DUF773		0.597	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	C	NM_176096		46052645	1	no_errors	ENST00000338399	ensembl	human	known	70_37	missense	SNP	0.985	A	A	46052645	C	A	46052645	3	1	58	1	0	0	0	0	1	0	0	0	3152	710	25	4	477	4	CDK5RAP3	17	46052645	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	113	46052645	35142565	1096	8846										
NFE2L1	4779	genome.wustl.edu	37	chr17	46135815	46135815	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcagccaggacttcttactCttcagccccgaggtggaaag	11	12	3	0	rs186077740		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46135815C>G	ENST00000362042.3	+	6	1747	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	NFE2L1_ENST00000357480.5_Silent_p.L347L|NFE2L1_ENST00000361665.3_Silent_p.L366L|NFE2L1_ENST00000585291.1_Silent_p.L347L|NFE2L1_ENST00000582155.1_Silent_p.L189L|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000536222.1_Silent_p.L221L|NFE2L1_ENST00000583378.1_Silent_p.L178L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	377					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.L377L(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTTACTCTTCAGCCCCG	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											92	95	94					17																	46135815		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1131C>G	17.37:g.46135815C>G			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L377	ENST00000362042.3	37	c.1131	CCDS11524.1	17																																																																																			NFE2L1	-	NULL		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	C	NM_003204		46135815	1	no_errors	ENST00000362042	ensembl	human	known	70_37	silent	SNP	0.991	G	G	46135815	C	G	46135815	2	3	58	1	0	0	0	0	0	0	0	1	10391	900	32	1		1	NFE2L1	17	46135815	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	83170	46135815	35059395	1097	8847										
SNX11	29916	genome.wustl.edu	37	chr17	46196369	46196369	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggttctcctgtcagacagCcagttgcacctattcctgca	9	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46196369C>G	ENST00000393405.2	+	7	714	c.360C>G	c.(358-360)agC>agG	p.S120R	SNX11_ENST00000359238.2_Missense_Mutation_p.S120R|SNX11_ENST00000582104.1_Missense_Mutation_p.S112R|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_Missense_Mutation_p.S59R|SNX11_ENST00000580219.1_Missense_Mutation_p.S112R|SNX11_ENST00000452859.2_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	120	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)	p.S120R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TGTCAGACAGCCAGTTGCACC	0.537																																																	1	Substitution - Missense(1)	cervix(1)											159	129	139					17																	46196369		2203	4300	6503	SO:0001583	missense	29916			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.360C>G	17.37:g.46196369C>G	ENSP00000377059:p.Ser120Arg		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S120R	ENST00000393405.2	37	c.360	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330348	0.60743	.	.	ENSG00000002919	ENST00000393405;ENST00000439357;ENST00000359238	T;T;T	0.39592	1.07;1.07;1.07	5.51	1.25	0.21368	Phox homologous domain (5);	0.035658	0.85682	D	0.000000	T	0.55800	0.1943	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.45877	-0.9231	10	0.32370	T	0.25	-21.26	10.652	0.45653	0.0:0.6455:0.0:0.3545	.	59;112;120	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	R	120;59;120	ENSP00000377059:S120R;ENSP00000407369:S59R;ENSP00000352175:S120R	ENSP00000352175:S120R	S	+	3	2	SNX11	43551368	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	1.156000	0.31712	-0.173000	0.10761	-1.134000	0.01955	AGC	SNX11	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.537	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	C			46196369	1	no_errors	ENST00000359238	ensembl	human	known	70_37	missense	SNP	0.999	G	G	46196369	C	G	46196369	3	3	58	1	0	0	0	0	1	0	0	0	14912	738	26	4	378	4	SNX11	17	46196369	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	60554	46196369	34998841	1098	8848										
TTLL6	284076	genome.wustl.edu	37	chr17	46868950	46868950	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggtcctccaagtatgcactGaaggtggagagcttcctgga	13	9	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46868950G>A	ENST00000393382.3	-	9	1155	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	TTLL6_ENST00000433608.2_Silent_p.F31F	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGTATGCACTGAAGGTGGAGA	0.557											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													206	149	168					17																	46868950		2203	4300	6503	SO:0001819	synonymous_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1014C>T	17.37:g.46868950G>A		942		Silent	SNP	pfam_Tub_tyr_ligase	p.F338	ENST00000393382.3	37	c.1014	CCDS45724.1	17																																																																																			TTLL6	-	pfam_Tub_tyr_ligase		0.557	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	G	NM_173623		46868950	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	silent	SNP	0.965	A	A	46868950	G	A	46868950	2	1	58	1	0	0	0	0	0	0	0	1	16762	1281	45	1		1	TTLL6	17	46868950	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	672581	46868950	34326260	1099	8849										
CACNA1G	8913	genome.wustl.edu	37	chr17	48694863	48694863	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcatcacgctggaggaaatcGaggtcaacgcctcgctgccc	12	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:48694863G>C	ENST00000359106.5	+	29	5086	c.5086G>C	c.(5086-5088)Gag>Cag	p.E1696Q	CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1678Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1651Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1703Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1644Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1639Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1673Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1678Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1678Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1651Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1655Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1673Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1662Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1696					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGGAAATCGAGGTCAACGC	0.617																																																	0													70	72	71					17																	48694863		2168	4267	6435	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5086G>C	17.37:g.48694863G>C	ENSP00000352011:p.Glu1696Gln		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.E1696Q	ENST00000359106.5	37	c.5086	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	25.2	4.611915	0.87258	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.98441	0.9481	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D;D;D	0.89917	0.993;0.999;0.999;0.998;1.0;1.0;0.999;0.999;0.999;0.998;1.0;0.996;0.994;1.0;0.999;0.999;1.0;0.858;1.0;1.0;0.999;0.945;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;P;D;D;D;P;D;D;D	0.91635	0.988;0.99;0.999;0.998;0.996;0.999;0.998;0.992;0.998;0.983;0.99;0.896;0.969;0.995;0.996;0.983;0.989;0.734;0.996;0.997;0.996;0.888;0.99;0.99;0.999	D	0.99113	1.0847	10	0.42905	T	0.14	.	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1639;1651;1644;1678;1651;1678;1703;1662;1696;1685;1696;1673;1685;1685;1678;1685;1696;1673;1696;1662;1655;1662;1673;1696;1662	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Q	1673;1662;1662;1655;1673;1685;1651;1639;1644;1662;1696;1685;1651;1696;1662;1696;1678;1685;1703;1662;1696;1678;1678;1696;1685	ENSP00000353990:E1673Q;ENSP00000339302:E1662Q;ENSP00000347078:E1662Q;ENSP00000409759:E1655Q;ENSP00000425522:E1673Q;ENSP00000426261:E1685Q;ENSP00000425451:E1651Q;ENSP00000422407:E1639Q;ENSP00000426814:E1644Q;ENSP00000427238:E1662Q;ENSP00000423112:E1696Q;ENSP00000420918:E1685Q;ENSP00000426172:E1651Q;ENSP00000423045:E1696Q;ENSP00000427173:E1662Q;ENSP00000426098:E1696Q;ENSP00000425698:E1678Q;ENSP00000426232:E1685Q;ENSP00000423317:E1703Q;ENSP00000350979:E1662Q;ENSP00000352011:E1696Q;ENSP00000414388:E1678Q;ENSP00000423155:E1678Q;ENSP00000422268:E1696Q;ENSP00000421518:E1685Q	ENSP00000339302:E1662Q	E	+	1	0	CACNA1G	46049862	1.000000	0.71417	0.963000	0.40424	0.779000	0.44077	8.006000	0.88564	2.348000	0.79779	0.655000	0.94253	GAG	CACNA1G	-	pfam_Ion_trans_dom		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	G	NM_018896		48694863	1	no_errors	ENST00000359106	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48694863	G	C	48694863	3	2	58	1	0	0	0	0	1	0	0	0	2549	1059	37	1	5467	1	CACNA1G	17	48694863	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1825913	48694863	32500347	1100	8850										
WFIKKN2	124857	genome.wustl.edu	37	chr17	48917322	48917322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accagtcggtcaccatgggtGagacagtgagcttcctctgt	12	11	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:48917322G>C	ENST00000311378.4	+	2	1201	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E132Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	225	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E225Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CACCATGGGTGAGACAGTGAG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											86	85	85					17																	48917322		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.673G>C	17.37:g.48917322G>C	ENSP00000311184:p.Glu225Gln		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E225Q	ENST00000311378.4	37	c.673	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149278	0.78001	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.96334	-3.98;-3.98	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050581	0.85682	D	0.000000	D	0.95204	0.8445	N	0.13352	0.335	0.80722	D	1	D	0.56968	0.978	P	0.57846	0.828	D	0.95210	0.8324	10	0.38643	T	0.18	.	19.2584	0.93957	0.0:0.0:1.0:0.0	.	225	Q8TEU8	WFKN2_HUMAN	Q	132;225	ENSP00000405889:E132Q;ENSP00000311184:E225Q	ENSP00000311184:E225Q	E	+	1	0	WFIKKN2	46272321	1.000000	0.71417	0.955000	0.39395	0.729000	0.41735	9.847000	0.99503	2.533000	0.85409	0.651000	0.88453	GAG	WFIKKN2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	G	NM_175575		48917322	1	no_errors	ENST00000311378	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48917322	G	C	48917322	3	2	58	1	0	0	0	0	1	0	0	0	17390	1291	45	1	679	1	WFIKKN2	17	48917322	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	222459	48917322	32277888	1101	8851										
MBTD1	54799	genome.wustl.edu	37	chr17	49284274	49284274	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aattttacaattccagcaatCcagaagactttggtaggtag	8	7	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:49284274C>G	ENST00000586178.1	-	7	922	c.579G>C	c.(577-579)tgG>tgC	p.W193C	MBTD1_ENST00000415868.1_Missense_Mutation_p.W193C|MBTD1_ENST00000376381.2_Missense_Mutation_p.W193C	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	193					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.W29C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCCAGCAATCCAGAAGACTT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											124	121	122					17																	49284274		2203	4300	6503	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.579G>C	17.37:g.49284274C>G	ENSP00000468304:p.Trp193Cys		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.W193C	ENST00000586178.1	37	c.579	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376317	0.82682	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.23552	1.9;1.9	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.28608	0.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05517	-1.0880	10	0.10636	T	0.68	.	19.1957	0.93689	0.0:1.0:0.0:0.0	.	193;193;29	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	C	193	ENSP00000403946:W193C;ENSP00000365561:W193C	ENSP00000365561:W193C	W	-	3	0	MBTD1	46639273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.531000	0.85337	0.655000	0.94253	TGG	MBTD1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.398	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	C			49284274	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49284274	C	G	49284274	3	3	58	1	0	0	0	0	1	0	0	0	9383	856	30	1	1351	1	MBTD1	17	49284274	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	366952	49284274	31910936	1102	8852										
CA10	56934	genome.wustl.edu	37	chr17	49710951	49710951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggacaggcctgaagttgtCactcatgctcagaaagatct	10	10	4	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:49710951C>T	ENST00000285273.4	-	9	1961	c.850G>A	c.(850-852)Gac>Aac	p.D284N	CA10_ENST00000340813.6_Missense_Mutation_p.D290N|CA10_ENST00000442502.2_Missense_Mutation_p.D284N|CA10_ENST00000570565.1_Missense_Mutation_p.D209N|CA10_ENST00000451037.2_Missense_Mutation_p.D284N|CA10_ENST00000571918.1_5'Flank	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	284					brain development (GO:0007420)			p.D284N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTGAAGTTGTCACTCATGCTC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											111	95	100					17																	49710951		2203	4300	6503	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.850G>A	17.37:g.49710951C>T	ENSP00000285273:p.Asp284Asn		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.D290N	ENST00000285273.4	37	c.868	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929589	0.52759	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	N	0.25825	0.765	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.565	D;D;B	0.74674	0.984;0.984;0.401	T	0.64892	-0.6300	10	0.02654	T	1	.	18.2623	0.90039	0.0:1.0:0.0:0.0	.	284;290;209	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	N	284;284;284;290	ENSP00000390666:D284N;ENSP00000285273:D284N;ENSP00000405388:D284N;ENSP00000340363:D290N	ENSP00000285273:D284N	D	-	1	0	CA10	47065950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.558000	0.86282	0.655000	0.94253	GAC	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.527	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	C	NM_020178		49710951	-1	no_errors	ENST00000340813	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49710951	C	T	49710951	3	4	58	1	0	0	0	0	1	0	0	0	2516	826	29	1	144	1	CA10	17	49710951	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	426677	49710951	31484259	1103	8853										
TOM1L1	10040	genome.wustl.edu	37	chr17	53016346	53016346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccagtcttcatccacagatGaacttgctagccttggagaa	8	12	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:53016346G>C	ENST00000575882.1	+	11	1448	c.1095G>C	c.(1093-1095)atG>atC	p.M365I	TOM1L1_ENST00000540336.1_Missense_Mutation_p.M253I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M288I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M365I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M358I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M288I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	365					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.M365I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATCCACAGATGAACTTGCTAG	0.353																																																	1	Substitution - Missense(1)	cervix(1)											118	107	110					17																	53016346		2203	4300	6503	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1095G>C	17.37:g.53016346G>C	ENSP00000460823:p.Met365Ile		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.M365I	ENST00000575882.1	37	c.1095	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062105	0.36373	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.22336	1.98;1.96;1.99;1.99	5.37	4.4	0.53042	.	4.588010	0.00166	N	0.000018	T	0.24314	0.0589	L	0.43152	1.355	0.24118	N	0.995815	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.16722	0.016;0.01;0.016;0.01	T	0.21518	-1.0243	10	0.37606	T	0.19	2.6289	9.7992	0.40753	0.0923:0.0:0.9077:0.0	.	253;358;288;365	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	I	365;253;288;288	ENSP00000408958:M365I;ENSP00000441242:M253I;ENSP00000343901:M288I;ENSP00000443099:M288I	ENSP00000343901:M288I	M	+	3	0	TOM1L1	50371345	0.305000	0.24481	0.567000	0.28434	0.935000	0.57460	0.277000	0.18734	1.500000	0.48636	0.453000	0.30009	ATG	TOM1L1	-	pirsf_TOM1		0.353	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	G	NM_005486		53016346	1	no_errors	ENST00000575882	ensembl	human	known	70_37	missense	SNP	0.918	C	C	53016346	G	C	53016346	3	2	58	1	0	0	0	0	1	0	0	0	16382	1290	45	1	1137	1	TOM1L1	17	53016346	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3305395	53016346	28178864	1104	8854										
ANKFN1	162282	genome.wustl.edu	37	chr17	54526454	54526454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caatagactggaaagactatGacgacagagagcccagacac	10	10	0	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:54526454G>C	ENST00000318698.2	+	10	1158	c.1123G>C	c.(1123-1125)Gac>Cac	p.D375H	ANKFN1_ENST00000566473.2_Missense_Mutation_p.D375H	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375								p.D375H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAAAGACTATGACGACAGAGA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											102	101	101					17																	54526454		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1123G>C	17.37:g.54526454G>C	ENSP00000321627:p.Asp375His			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.D375H	ENST00000318698.2	37	c.1123	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207066	0.58343	.	.	ENSG00000153930	ENST00000318698	T	0.33654	1.4	5.25	5.25	0.73442	Ankyrin repeat-containing domain (1);	0.140873	0.64402	D	0.000007	T	0.49592	0.1566	M	0.68593	2.085	0.52099	D	0.999945	D	0.69078	0.997	P	0.54499	0.754	T	0.53648	-0.8409	10	0.87932	D	0	-15.4421	12.6655	0.56840	0.086:0.0:0.914:0.0	.	375	Q8N957	ANKF1_HUMAN	H	375	ENSP00000321627:D375H	ENSP00000321627:D375H	D	+	1	0	ANKFN1	51881453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.007000	0.76335	2.460000	0.83146	0.655000	0.94253	GAC	ANKFN1	-	NULL		0.488	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	G	NM_153228		54526454	1	no_errors	ENST00000318698	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54526454	G	C	54526454	3	2	58	1	0	0	0	0	1	0	0	0	625	1290	45	1	1161	1	ANKFN1	17	54526454	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1510108	54526454	26668756	1105	8855										
LPO	4025	genome.wustl.edu	37	chr17	56324982	56324982	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagactgaggcagaaggcatCcttgaccaatgtcacaggta	12	9	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:56324982C>G	ENST00000262290.4	+	4	624	c.308C>G	c.(307-309)tCc>tGc	p.S103C	LPO_ENST00000421678.2_Intron|LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Missense_Mutation_p.S44C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	103					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.S103C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAGAAGGCATCCTTGACCAAT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											90	84	86					17																	56324982		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.308C>G	17.37:g.56324982C>G	ENSP00000262290:p.Ser103Cys		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S103C	ENST00000262290.4	37	c.308	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257753	0.39896	.	.	ENSG00000167419	ENST00000262290;ENST00000543544	T;T	0.72167	-0.52;-0.63	5.56	3.15	0.36227	.	1.275740	0.04981	N	0.465592	T	0.57814	0.2079	N	0.08118	0	0.18873	N	0.999982	B;P	0.38300	0.141;0.626	B;P	0.45232	0.289;0.474	T	0.52495	-0.8568	10	0.48119	T	0.1	-1.3543	4.2944	0.10894	0.1679:0.6051:0.0:0.227	.	44;103	B4E1M1;P22079	.;PERL_HUMAN	C	103;44	ENSP00000262290:S103C;ENSP00000445344:S44C	ENSP00000262290:S103C	S	+	2	0	LPO	53679981	0.009000	0.17119	0.004000	0.12327	0.120000	0.20174	0.846000	0.27682	0.466000	0.27193	0.655000	0.94253	TCC	LPO	-	NULL		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56324982	1	no_errors	ENST00000262290	ensembl	human	known	70_37	missense	SNP	0.006	G	G	56324982	C	G	56324982	3	3	58	1	0	0	0	0	1	0	0	0	8945	855	30	1	318	1	LPO	17	56324982	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1798528	56324982	24870228	1106	8856										
C17orf71	55181	genome.wustl.edu	37	chr17	57292318	57292318	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggaaaatgtgcagttaatGagctacaaggtgctccgtgg	13	6	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:57292318G>C	ENST00000543872.2	+	5	3195	c.2931G>C	c.(2929-2931)atG>atC	p.M977I	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.M96I|SMG8_ENST00000300917.5_Missense_Mutation_p.M977I			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	977					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.M977I(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCAGTTAATGAGCTACAAGG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											129	119	122					17																	57292318		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2931G>C	17.37:g.57292318G>C	ENSP00000438748:p.Met977Ile		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.M977I	ENST00000543872.2	37	c.2931	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003429	0.35320	.	.	ENSG00000167447	ENST00000300917	T	0.41065	1.01	5.73	5.73	0.89815	.	0.220958	0.56097	D	0.000030	T	0.33673	0.0871	L	0.34521	1.04	0.35890	D	0.829588	B	0.26195	0.144	B	0.27262	0.078	T	0.37244	-0.9714	10	0.42905	T	0.14	-14.6403	12.2348	0.54510	0.0771:0.0:0.9229:0.0	.	977	Q8ND04	SMG8_HUMAN	I	977	ENSP00000300917:M977I	ENSP00000300917:M977I	M	+	3	0	SMG8	54647100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.255000	0.51484	2.707000	0.92482	0.561000	0.74099	ATG	SMG8	-	pfam_Smg8/Smg9		0.433	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57292318	1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57292318	G	C	57292318	3	2	58	1	0	0	0	0	1	0	0	0	1882	1290	45	1	2945	1	C17orf71	17	57292318	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	967336	57292318	23902892	1107	8857										
TMEM49	81671	genome.wustl.edu	37	chr17	57889099	57889099	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtacctttttggaccttCtttggtgcaaccctaattgg	9	10	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:57889099C>T	ENST00000262291.4	+	9	1174	c.864C>T	c.(862-864)ttC>ttT	p.F288F	VMP1_ENST00000537567.1_Silent_p.F154F|VMP1_ENST00000545362.1_Silent_p.F232F|VMP1_ENST00000536180.1_Silent_p.F191F|VMP1_ENST00000539763.1_Silent_p.F96F	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	288					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.F288F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTTGGACCTTCTTTGGTGCAA	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											180	175	177					17																	57889099		2203	4300	6503	SO:0001819	synonymous_variant	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.864C>T	17.37:g.57889099C>T			B4DVV9|Q9H0P4|Q9P089	Silent	SNP	NULL	p.F288	ENST00000262291.4	37	c.864	CCDS11619.1	17																																																																																			VMP1	-	NULL		0.373	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	C	NM_030938		57889099	1	no_errors	ENST00000262291	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57889099	C	T	57889099	2	4	58	1	0	0	0	0	0	0	0	1	16203	912	32	1		1	TMEM49	17	57889099	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	596781	57889099	23306111	1108	8858										
C17orf82	388407	genome.wustl.edu	37	chr17	59489402	59489402	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taccccgagcctgccttcctCcgctctgggaaggacccaaa	9	17	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:59489402C>G	ENST00000335108.2	+	1	291	c.66C>G	c.(64-66)ctC>ctG	p.L22L	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	22								p.L22L(2)		cervix(1)|lung(1)	2						CTGCCTTCCTCCGCTCTGGGA	0.667											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	cervix(2)											33	37	36					17																	59489402		2202	4300	6502	SO:0001819	synonymous_variant	388407			BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.66C>G	17.37:g.59489402C>G		1038		Silent	SNP	NULL	p.L22	ENST00000335108.2	37	c.66	CCDS11628.1	17																																																																																			C17orf82	-	NULL		0.667	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf82	HGNC	protein_coding	OTTHUMT00000449646.1	C	NM_203425		59489402	1	no_errors	ENST00000335108	ensembl	human	known	70_37	silent	SNP	0.003	G	G	59489402	C	G	59489402	2	3	58	1	0	0	0	0	0	0	0	1	1891	842	30	1		1	C17orf82	17	59489402	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1600303	59489402	21705808	1109	8859										
INTS2	57508	genome.wustl.edu	37	chr17	59999170	59999170	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaagacttgaaaaaaaattCtccgttggactcagacacct	7	9	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:59999170C>T	ENST00000444766.3	-	4	550	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	INTS2_ENST00000251334.6_Missense_Mutation_p.E151K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	159					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.E159K(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAAAAAATTCTCCGTTGGAC	0.308																																																	1	Substitution - Missense(1)	cervix(1)											48	45	46					17																	59999170		1791	4062	5853	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.475G>A	17.37:g.59999170C>T	ENSP00000414237:p.Glu159Lys		Q9ULD3	Missense_Mutation	SNP	NULL	p.E159K	ENST00000444766.3	37	c.475	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788366	0.90367	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T;T	0.51817	0.8;0.69	5.61	5.61	0.85477	.	0.042967	0.85682	D	0.000000	T	0.64649	0.2617	L	0.49126	1.545	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.59495	-0.7444	9	.	.	.	-9.9801	19.6275	0.95684	0.0:1.0:0.0:0.0	.	159	Q9H0H0	INT2_HUMAN	K	159;158	ENSP00000414237:E159K;ENSP00000251334:E158K	.	E	-	1	0	INTS2	57353952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.475000	0.81041	2.654000	0.90174	0.650000	0.86243	GAA	INTS2	-	NULL		0.308	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	C	NM_020748		59999170	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59999170	C	T	59999170	3	4	58	1	0	0	0	0	1	0	0	0	7798	922	32	1	3227	1	INTS2	17	59999170	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	509768	59999170	21196040	1110	8860										
EFCAB3	146779	genome.wustl.edu	37	chr17	60491167	60491167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accattgatcaaatgctcaaGaaaaagcagacttgtacagt	7	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:60491167G>C	ENST00000305286.3	+	9	1020	c.942G>C	c.(940-942)aaG>aaC	p.K314N	EFCAB3_ENST00000450662.2_Missense_Mutation_p.K366N	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	314							calcium ion binding (GO:0005509)	p.K314N(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAATGCTCAAGAAAAAGCAGA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											98	100	99					17																	60491167		2203	4300	6503	SO:0001583	missense	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.942G>C	17.37:g.60491167G>C	ENSP00000302649:p.Lys314Asn		J3KQM8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.K366N	ENST00000305286.3	37	c.1098	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185252	0.38609	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.68765	-0.35;-0.3	5.05	5.05	0.67936	.	0.093202	0.46758	D	0.000267	T	0.65450	0.2692	L	0.59436	1.845	0.39912	D	0.974042	P	0.36733	0.567	B	0.39185	0.293	T	0.71833	-0.4473	10	0.87932	D	0	.	13.767	0.63002	0.0:0.0:1.0:0.0	.	314	Q8N7B9	EFCB3_HUMAN	N	366;314	ENSP00000403932:K366N;ENSP00000302649:K314N	ENSP00000302649:K314N	K	+	3	2	EFCAB3	57844899	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	1.882000	0.39648	2.625000	0.88918	0.557000	0.71058	AAG	EFCAB3	-	NULL		0.363	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	G	NM_173503		60491167	1	no_errors	ENST00000450662	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60491167	G	C	60491167	3	2	58	1	0	0	0	0	1	0	0	0	4945	933	33	1	1140	1	EFCAB3	17	60491167	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	491997	60491167	20704043	1111	8861										
ACE	1636	genome.wustl.edu	37	chr17	61574500	61574500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccttgcttcccgctcagctCgctcagaagggcccctccca	8	19	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:61574500C>T	ENST00000290866.4	+	25	3718	c.3694C>T	c.(3694-3696)Cgc>Tgc	p.R1232C	ACE_ENST00000413513.3_Missense_Mutation_p.R617C|ACE_ENST00000577647.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.R437C|ACE_ENST00000290863.6_Missense_Mutation_p.R658C|ACE_ENST00000490216.2_Intron|ACE_ENST00000428043.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1232	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGCTCAGCTCGCTCAGAAGG	0.716																																																	0													12	15	14					17																	61574500		2185	4257	6442	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3694C>T	17.37:g.61574500C>T	ENSP00000290866:p.Arg1232Cys		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.R1232C	ENST00000290866.4	37	c.3694	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	c	11.96	1.793986	0.31777	.	.	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.35236	1.32;1.51;1.44;1.54	4.43	2.18	0.27775	.	1.213750	0.05696	N	0.593099	T	0.51924	0.1703	M	0.68317	2.08	0.28609	N	0.908763	D;D;D;D	0.57571	0.98;0.978;0.976;0.978	P;P;P;B	0.52856	0.711;0.513;0.707;0.265	T	0.49698	-0.8912	10	0.72032	D	0.01	-0.2921	12.4915	0.55903	0.0:0.5844:0.4156:0.0	.	437;617;658;1232	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	C	1232;658;617;437	ENSP00000290866:R1232C;ENSP00000290863:R658C;ENSP00000392247:R617C;ENSP00000387760:R437C	ENSP00000290863:R658C	R	+	1	0	ACE	58928232	0.013000	0.17824	0.770000	0.31555	0.081000	0.17604	0.802000	0.27069	0.964000	0.38108	0.550000	0.68814	CGC	ACE	-	NULL		0.716	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	C			61574500	1	no_errors	ENST00000290866	ensembl	human	known	70_37	missense	SNP	0.295	T	T	61574500	C	T	61574500	3	4	58	1	0	0	0	0	1	0	0	0	136	884	31	1	3995	1	ACE	17	61574500	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1083333	61574500	19620710	1112	8862										
SCN4A	6329	genome.wustl.edu	37	chr17	62034657	62034657	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgatgaggaaggagtggaaGaaatcatgcatgtgccagcg	15	6	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:62034657G>C	ENST00000435607.1	-	13	2317	c.2241C>G	c.(2239-2241)ttC>ttG	p.F747L	SCN4A_ENST00000578147.1_Missense_Mutation_p.F747L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	747					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F747L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAGTGGAAGAAATCATGCA	0.597																																																	1	Substitution - Missense(1)	cervix(1)											90	93	92					17																	62034657		2203	4300	6503	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2241C>G	17.37:g.62034657G>C	ENSP00000396320:p.Phe747Leu		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F747L	ENST00000435607.1	37	c.2241	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225476	0.79576	.	.	ENSG00000007314	ENST00000435607	D	0.98914	-5.23	3.91	3.91	0.45181	Ion transport (1);	0.100378	0.64402	D	0.000002	D	0.98957	0.9645	M	0.79614	2.46	0.52099	D	0.999949	D	0.89917	1.0	D	0.83275	0.996	D	0.99331	1.0909	10	0.87932	D	0	.	15.018	0.71600	0.0:0.0:1.0:0.0	.	747	P35499	SCN4A_HUMAN	L	747	ENSP00000396320:F747L	ENSP00000396320:F747L	F	-	3	2	SCN4A	59388389	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.663000	0.61532	2.180000	0.69256	0.561000	0.74099	TTC	SCN4A	-	pfam_Ion_trans_dom		0.597	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62034657	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62034657	G	C	62034657	3	2	58	1	0	0	0	0	1	0	0	0	13950	933	33	1	3317	1	SCN4A	17	62034657	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	460157	62034657	19160553	1113	8863										
DDX5	1655	genome.wustl.edu	37	chr17	62500815	62500815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgctgtgcgcctagccaaatCagggtgctcttgataaaaat	10	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:62500815C>T	ENST00000225792.5	-	2	591	c.190G>A	c.(190-192)Gat>Aat	p.D64N	DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000553412.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.D64N|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.D64N|CEP95_ENST00000581056.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	64					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.D64N(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTAGCCAAATCAGGGTGCTCT	0.403			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	2	Substitution - Missense(2)	cervix(2)											103	105	105					17																	62500815		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.190G>A	17.37:g.62500815C>T	ENSP00000225792:p.Asp64Asn		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D64N	ENST00000225792.5	37	c.190	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748265	0.69533	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T;T	0.32988	1.43;1.43	5.4	5.4	0.78164	.	0.044162	0.85682	D	0.000000	T	0.43678	0.1258	L	0.39147	1.195	0.80722	D	1	D;B;B	0.69078	0.997;0.012;0.012	D;B;B	0.80764	0.994;0.011;0.028	T	0.13469	-1.0508	10	0.02654	T	1	-20.4304	19.1893	0.93658	0.0:1.0:0.0:0.0	.	64;64;64	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	N	64;64;53	ENSP00000440276:D64N;ENSP00000403085:D64N	ENSP00000225792:D53N	D	-	1	0	DDX5	59931277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.382000	0.79729	2.527000	0.85204	0.561000	0.74099	GAT	DDX5	-	NULL		0.403	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62500815	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62500815	C	T	62500815	3	4	58	1	0	0	0	0	1	0	0	0	4372	826	29	1	1702	1	DDX5	17	62500815	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	466158	62500815	18694395	1114	8864										
KPNA2	3838	genome.wustl.edu	37	chr17	66038376	66038376	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacaaaccaaggctgtggtaGatggaggtgccatcccagca	12	10	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:66038376G>C	ENST00000537025.2	+	5	1098	c.478G>C	c.(478-480)Gat>Cat	p.D160H	KPNA2_ENST00000330459.3_Missense_Mutation_p.D160H			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	160	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D160H(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCTGTGGTAGATGGAGGTGC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											237	230	232					17																	66038376		2203	4296	6499	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.478G>C	17.37:g.66038376G>C	ENSP00000438483:p.Asp160His		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D160H	ENST00000537025.2	37	c.478	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928787	0.73327	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.71579	-0.58;-0.58	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.396937	0.24927	U	0.034492	T	0.72724	0.3496	M	0.61703	1.905	0.58432	D	0.999998	P	0.35600	0.511	B	0.36922	0.236	T	0.74526	-0.3636	10	0.66056	D	0.02	.	19.8706	0.96849	0.0:0.0:1.0:0.0	.	160	P52292	IMA2_HUMAN	H	160	ENSP00000332455:D160H;ENSP00000438483:D160H	ENSP00000332455:D160H	D	+	1	0	KPNA2	63468838	1.000000	0.71417	0.965000	0.40720	0.796000	0.44982	7.707000	0.84623	2.691000	0.91804	0.563000	0.77884	GAT	KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.483	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66038376	1	no_errors	ENST00000330459	ensembl	human	known	70_37	missense	SNP	0.998	C	C	66038376	G	C	66038376	3	2	58	1	0	0	0	0	1	0	0	0	8450	942	33	1	492	1	KPNA2	17	66038376	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3537561	66038376	15156834	1115	8865										
KPNA2	3838	genome.wustl.edu	37	chr17	66040016	66040016	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatgaacagactcaggttgtGattgatgcaggagcactcgc	13	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:66040016G>A	ENST00000537025.2	+	8	1613	c.993G>A	c.(991-993)gtG>gtA	p.V331V	KPNA2_ENST00000330459.3_Silent_p.V331V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	331	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.V331V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCAGGTTGTGATTGATGCAG	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											101	110	107					17																	66040016		2203	4296	6499	SO:0001819	synonymous_variant	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.993G>A	17.37:g.66040016G>A			B9EJD6|Q53YE3|Q9BRU5	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.V331	ENST00000537025.2	37	c.993	CCDS32713.1	17																																																																																			KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.443	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66040016	1	no_errors	ENST00000330459	ensembl	human	known	70_37	silent	SNP	0.884	A	A	66040016	G	A	66040016	2	1	58	1	0	0	0	0	0	0	0	1	8450	1277	45	1		1	KPNA2	17	66040016	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1640	66040016	15155194	1116	8866										
FAM20A	54757	genome.wustl.edu	37	chr17	66538872	66538872	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acactctgcaggatttcattCttggtgacctctaggatttc	8	10	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:66538872C>T	ENST00000592554.1	-	6	1613	c.891G>A	c.(889-891)aaG>aaA	p.K297K	FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	297					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.K297K(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGATTTCATTCTTGGTGACCT	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											138	136	137					17																	66538872		2203	4300	6503	SO:0001819	synonymous_variant	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.891G>A	17.37:g.66538872C>T			B2RN47|B2RN49|Q9UF95	Silent	SNP	pfam_DUF1193	p.K297	ENST00000592554.1	37	c.891	CCDS11679.1	17																																																																																			FAM20A	-	NULL		0.512	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	C	NM_017565		66538872	-1	no_errors	ENST00000592554	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66538872	C	T	66538872	2	4	58	1	0	0	0	0	0	0	0	1	5552	912	32	1		1	FAM20A	17	66538872	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	498856	66538872	14656338	1117	8867										
ABCA10	10349	genome.wustl.edu	37	chr17	67212121	67212121	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtttccttattaaaacactCatgaggaaagccaatgctat	7	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:67212121C>G	ENST00000269081.4	-	9	1602	c.693G>C	c.(691-693)atG>atC	p.M231I	ABCA10_ENST00000432313.2_Missense_Mutation_p.M231I|ABCA10_ENST00000416101.2_Missense_Mutation_p.M231I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	231					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M231I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAAAACACTCATGAGGAAAG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											64	66	65					17																	67212121		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.693G>C	17.37:g.67212121C>G	ENSP00000269081:p.Met231Ile		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.M231I	ENST00000269081.4	37	c.693	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613064	0.28712	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.85088	-1.94;-1.94;-1.94	3.21	-2.04	0.07343	.	0.369279	0.14304	U	0.328120	T	0.82047	0.4952	M	0.83483	2.645	0.09310	N	0.999998	B;B	0.28128	0.201;0.051	B;B	0.35278	0.199;0.042	T	0.71623	-0.4537	10	0.40728	T	0.16	.	1.1252	0.01733	0.1612:0.2992:0.3181:0.2216	.	231;231	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	I	231	ENSP00000269081:M231I;ENSP00000407772:M231I;ENSP00000387674:M231I	ENSP00000269081:M231I	M	-	3	0	ABCA10	64723716	0.014000	0.17966	0.111000	0.21465	0.917000	0.54804	-0.214000	0.09292	-0.181000	0.10619	0.514000	0.50259	ATG	ABCA10	-	NULL		0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67212121	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	0.002	G	G	67212121	C	G	67212121	3	3	58	1	0	0	0	0	1	0	0	0	29	826	29	1	4066	1	ABCA10	17	67212121	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	673249	67212121	13983089	1118	8868										
SDK2	54549	genome.wustl.edu	37	chr17	71431603	71431603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttactggtgacagccaggTaggtggaagtttgcacctcg	13	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:71431603T>G	ENST00000392650.3	-	9	1181	c.1181A>C	c.(1180-1182)tAc>tCc	p.Y394S	SDK2_ENST00000388726.3_Missense_Mutation_p.Y394S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	394	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Y394S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACAGCCAGGTAGGTGGAAGT	0.622																																																	1	Substitution - Missense(1)	cervix(1)											48	37	40					17																	71431603		2203	4298	6501	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1181A>C	17.37:g.71431603T>G	ENSP00000376421:p.Tyr394Ser		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Y394S	ENST00000392650.3	37	c.1181	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446775	0.63178	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.63580	-0.05;-0.05	4.75	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069373	0.64402	D	0.000012	T	0.57695	0.2071	L	0.41906	1.305	0.58432	D	0.999999	P;B	0.44877	0.845;0.293	P;B	0.45449	0.481;0.371	T	0.55885	-0.8070	10	0.29301	T	0.29	.	14.2284	0.65875	0.0:0.0:0.0:1.0	.	394;394	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	S	18;394;394;394	ENSP00000376421:Y394S;ENSP00000373378:Y394S	ENSP00000324967:Y394S	Y	-	2	0	SDK2	68943198	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.385000	0.79763	1.760000	0.52011	0.402000	0.26972	TAC	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	T	NM_019064		71431603	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71431603	T	G	71431603	3	3	58	1	0	0	0	0	1	0	0	0	13999	1638	57	5	5485	5	SDK2	17	71431603	Missense_Mutation	SNP	T	TCGA-DR-A0ZM-01A-12D-A10S-08	4219482	71431603	9763607	1119	8869										
OTOP2	92736	genome.wustl.edu	37	chr17	72921682	72921682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtttggaatctgcaccctCatcatggatgtcttcaagac	8	11	5	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:72921682C>T	ENST00000580223.1	+	2	375	c.345C>T	c.(343-345)ctC>ctT	p.L115L	USH1G_ENST00000319642.1_5'Flank|OTOP2_ENST00000331427.4_Silent_p.L115L			Q7RTS6	OTOP2_HUMAN	otopetrin 2	115						integral component of membrane (GO:0016021)		p.L115L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCACCCTCATCATGGATG	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											147	134	138					17																	72921682		2203	4300	6503	SO:0001819	synonymous_variant	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.345C>T	17.37:g.72921682C>T				Silent	SNP	pfam_Otopetrin	p.L115	ENST00000580223.1	37	c.345	CCDS11708.1	17																																																																																			OTOP2	-	pfam_Otopetrin		0.557	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	C	NM_178160		72921682	1	no_errors	ENST00000331427	ensembl	human	known	70_37	silent	SNP	0.003	T	T	72921682	C	T	72921682	2	4	58	1	0	0	0	0	0	0	0	1	11330	813	29	1		1	OTOP2	17	72921682	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1490079	72921682	8273528	1120	8870										
LLGL2	3993	genome.wustl.edu	37	chr17	73552126	73552126	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccacgtgcttctcgttgcaGacggtggagcatggcttccc	12	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73552126G>A	ENST00000392550.3	+	3	192		c.e3-1		LLGL2_ENST00000375227.4_Splice_Site|LLGL2_ENST00000577200.1_Splice_Site|LLGL2_ENST00000578363.1_Splice_Site|LLGL2_ENST00000167462.5_Splice_Site	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)						cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.?(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTCGTTGCAGACGGTGGAGC	0.677																																																	2	Unknown(2)	cervix(2)											67	59	62					17																	73552126		2203	4300	6503	SO:0001630	splice_region_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.76-1G>A	17.37:g.73552126G>A			Q14521|Q9BR62	Splice_Site	SNP	-	e2-1	ENST00000392550.3	37	c.76-1	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492056	0.84962	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7752	0.88505	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LLGL2	71063721	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.595000	0.98260	2.431000	0.82371	0.563000	0.77884	.	LLGL2	-	-		0.677	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	G	NM_004524	Intron	73552126	1	no_errors	ENST00000392550	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	73552126	G	A	73552126	5	1	58	1	0	0	0	0	0	0	1	0	8855	956	33	1	81	1	LLGL2	17	73552126	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	630444	73552126	7643084	1121	8871										
ITGB4	3691	genome.wustl.edu	37	chr17	73738843	73738843	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caccatcatcaaggagcaagGtgggtctgggtggggagagt	17	7	3	1	rs113310826		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73738843G>C	ENST00000200181.3	+	25	3149		c.e25+1		ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGAGCAAGGTGGGTCTGGG	0.652																																																	1	Unknown(1)	cervix(1)											23	22	22					17																	73738843		2202	4298	6500	SO:0001630	splice_region_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2962+1G>C	17.37:g.73738843G>C			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	-	e24+1	ENST00000200181.3	37	c.2962+1	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907824	0.72868	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1087	0.93309	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB4	71250438	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	9.786000	0.99046	2.546000	0.85860	0.556000	0.70494	.	ITGB4	-	-		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G		Intron	73738843	1	no_errors	ENST00000200181	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	73738843	G	C	73738843	5	2	58	1	0	0	0	0	0	0	1	0	7917	1275	44	4	3057	4	ITGB4	17	73738843	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	186717	73738843	7456367	1122	8872										
UNK	85451	genome.wustl.edu	37	chr17	73813417	73813417	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctccgcagctcctctgtaGaaacagcagcctaggcagcc	9	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73813417G>A	ENST00000589666.1	+	9	1225	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	UNK_ENST00000293218.3_Missense_Mutation_p.R448K|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	372							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R448K(1)|p.R372K(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCCTCTGTAGAAACAGCAGC	0.657																																																	2	Substitution - Missense(2)	cervix(2)											53	59	57					17																	73813417		1982	4134	6116	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1115G>A	17.37:g.73813417G>A	ENSP00000464893:p.Arg372Lys			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R448K	ENST00000589666.1	37	c.1343	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135328	0.56828	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.81	4.81	0.61882	.	0.272863	0.36932	N	0.002336	T	0.42381	0.1200	L	0.36672	1.1	0.46260	D	0.998957	B	0.33904	0.431	B	0.28784	0.094	T	0.39313	-0.9620	9	0.05959	T	0.93	-21.6943	16.2383	0.82393	0.0:0.0:1.0:0.0	.	372	Q9C0B0	UNK_HUMAN	K	448	.	ENSP00000293218:R448K	R	+	2	0	UNK	71325012	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.796000	0.62496	2.488000	0.83962	0.563000	0.77884	AGA	UNK	-	NULL		0.657	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73813417	1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73813417	G	A	73813417	3	1	58	1	0	0	0	0	1	0	0	0	17031	942	33	1	1381	1	UNK	17	73813417	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	74574	73813417	7381793	1123	8873										
UNK	85451	genome.wustl.edu	37	chr17	73818677	73818677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agctggcccgacttcggcaaGagctggatgaagccaacagc	13	12	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73818677G>C	ENST00000589666.1	+	14	2067	c.1957G>C	c.(1957-1959)Gag>Cag	p.E653Q	UNK_ENST00000293218.3_Missense_Mutation_p.E729Q|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	653							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E729Q(1)|p.E653Q(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTTCGGCAAGAGCTGGATGA	0.642																																																	2	Substitution - Missense(2)	cervix(2)											48	55	52					17																	73818677		2020	4171	6191	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1957G>C	17.37:g.73818677G>C	ENSP00000464893:p.Glu653Gln			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E729Q	ENST00000589666.1	37	c.2185	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974747	0.74360	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	L	0.39020	1.185	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.63888	-0.6535	9	0.31617	T	0.26	-18.7504	17.9634	0.89092	0.0:0.0:1.0:0.0	.	653	Q9C0B0	UNK_HUMAN	Q	729	.	ENSP00000293218:E729Q	E	+	1	0	UNK	71330272	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.263000	0.95617	2.470000	0.83445	0.591000	0.81541	GAG	UNK	-	NULL		0.642	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73818677	1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73818677	G	C	73818677	3	2	58	1	0	0	0	0	1	0	0	0	17031	943	33	1	2243	1	UNK	17	73818677	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5260	73818677	7376533	1124	8874										
UNK	85451	genome.wustl.edu	37	chr17	73820444	73820444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtgtgagctctgcgctgaGggcagcgagtgccccatctg	15	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73820444G>C	ENST00000589666.1	+	16	2489	c.2379G>C	c.(2377-2379)gaG>gaC	p.E793D	UNK_ENST00000293218.3_Missense_Mutation_p.E869D	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	793							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E793D(1)|p.E869D(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGCGCTGAGGGCAGCGAGT	0.647																																																	2	Substitution - Missense(2)	cervix(2)											23	24	24					17																	73820444		2088	4198	6286	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2379G>C	17.37:g.73820444G>C	ENSP00000464893:p.Glu793Asp			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E869D	ENST00000589666.1	37	c.2607	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	7.980	0.751081	0.15778	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.91	3.95	0.45737	Zinc finger, RING-type (1);	0.325332	0.30392	N	0.009728	T	0.46776	0.1410	L	0.55481	1.735	0.34530	D	0.709069	B	0.22276	0.067	B	0.19391	0.025	T	0.50676	-0.8800	9	0.15066	T	0.55	-18.3346	8.2224	0.31549	0.0785:0.0:0.766:0.1555	.	793	Q9C0B0	UNK_HUMAN	D	869	.	ENSP00000293218:E869D	E	+	3	2	UNK	71332039	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.184000	0.42575	1.308000	0.44962	0.563000	0.77884	GAG	UNK	-	NULL		0.647	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73820444	1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	0.989	C	C	73820444	G	C	73820444	3	2	58	1	0	0	0	0	1	0	0	0	17031	991	35	4	2673	4	UNK	17	73820444	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1767	73820444	7374766	1125	8875										
CDK3	1018	genome.wustl.edu	37	chr17	74001454	74001454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acccgtacttctcatcccctGagccctccccagctgcccgc	6	22	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74001454G>C	ENST00000425876.2	+	7	956	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.E290Q			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	290					cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E290Q(1)		central_nervous_system(1)	1						CTCATCCCCTGAGCCCTCCCC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											80	67	71					17																	74001454		2203	4300	6503	SO:0001583	missense	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.868G>C	17.37:g.74001454G>C	ENSP00000410561:p.Glu290Gln			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.E290Q	ENST00000425876.2	37	c.868	CCDS11736.1	17	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495323	0.26774	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.70399	-0.48;-0.48	4.11	3.13	0.36017	Protein kinase-like domain (1);	0.936355	0.08883	N	0.879785	T	0.52709	0.1751	N	0.16098	0.37	0.09310	N	0.999991	B	0.18968	0.032	B	0.19946	0.027	T	0.35001	-0.9806	10	0.32370	T	0.25	-15.3533	8.3995	0.32576	0.0919:0.1592:0.7489:0.0	.	290	Q00526	CDK3_HUMAN	Q	290	ENSP00000400088:E290Q;ENSP00000410561:E290Q	ENSP00000410561:E290Q	E	+	1	0	CDK3	71513049	0.009000	0.17119	0.036000	0.18154	0.014000	0.08584	1.264000	0.33015	2.277000	0.76020	0.491000	0.48974	GAG	CDK3	-	superfamily_Kinase-like_dom		0.587	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2	G	NM_001258		74001454	1	no_errors	ENST00000425876	ensembl	human	known	70_37	missense	SNP	0.002	C	C	74001454	G	C	74001454	3	2	58	1	0	0	0	0	1	0	0	0	3145	1291	45	1	894	1	CDK3	17	74001454	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	181010	74001454	7193756	1126	8876										
GALR2	8811	genome.wustl.edu	37	chr17	74072990	74072990	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgcgcaccttgcgctacctCtggcgcgccgtcgacccggt	13	18	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74072990C>G	ENST00000329003.3	+	2	732	c.642C>G	c.(640-642)ctC>ctG	p.L214L	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	214					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)	p.L214L(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGCGCTACCTCTGGCGCGCCG	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											21	16	18					17																	74072990		2175	4242	6417	SO:0001819	synonymous_variant	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.642C>G	17.37:g.74072990C>G			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.L214	ENST00000329003.3	37	c.642	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM		0.692	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	C			74072990	1	no_errors	ENST00000329003	ensembl	human	known	70_37	silent	SNP	1.000	G	G	74072990	C	G	74072990	2	3	58	1	0	0	0	0	0	0	0	1	6247	900	32	1		1	GALR2	17	74072990	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	71536	74072990	7122220	1127	8877										
RNF157	114804	genome.wustl.edu	37	chr17	74158697	74158697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctgaaggaggtagctgaccCcgtctacctgaacagcaaac	10	13	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74158697C>T	ENST00000269391.6	-	9	860	c.728G>A	c.(727-729)gGg>gAg	p.G243E	RNF157_ENST00000319945.6_Missense_Mutation_p.G243E	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	243							zinc ion binding (GO:0008270)	p.G837E(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCTGACCCCGTCTACCTG	0.428																																					GBM(186;507 2120 27388 27773 52994)												1	Substitution - Missense(1)	cervix(1)											99	86	90					17																	74158697		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.728G>A	17.37:g.74158697C>T	ENSP00000269391:p.Gly243Glu		Q8NB72|Q96N56	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G243E	ENST00000269391.6	37	c.728	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.134149	0.94517	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.29397	1.57;1.64	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.979;0.98	T	0.62685	-0.6802	10	0.66056	D	0.02	-14.0309	19.3121	0.94192	0.0:1.0:0.0:0.0	.	243;243	Q96PX1-2;Q96PX1	.;RN157_HUMAN	E	243;243;205	ENSP00000269391:G243E;ENSP00000321837:G243E	ENSP00000269391:G243E	G	-	2	0	RNF157	71670292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.544000	0.85801	0.655000	0.94253	GGG	RNF157	-	NULL		0.428	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	HGNC	protein_coding	OTTHUMT00000255874.2	C	XM_290732		74158697	-1	no_errors	ENST00000269391	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74158697	C	T	74158697	3	4	58	1	0	0	0	0	1	0	0	0	13484	623	22	4	1355	4	RNF157	17	74158697	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	85707	74158697	7036513	1128	8878										
ST6GALNAC2	10610	genome.wustl.edu	37	chr17	74570585	74570585	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acggaagtgggggtgccgctGaatggccaggtgaagcaggt	19	7	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74570585G>A	ENST00000225276.5	-	3	542	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	75					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.Q75*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGGTGCCGCTGAATGGCCAGG	0.662																																																	1	Substitution - Nonsense(1)	cervix(1)											35	35	35					17																	74570585		2203	4300	6503	SO:0001587	stop_gained	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.223C>T	17.37:g.74570585G>A	ENSP00000225276:p.Gln75*		Q12971	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q75*	ENST00000225276.5	37	c.223	CCDS11747.1	17	.	.	.	.	.	.	.	.	.	.	g	22.9	4.347209	0.82022	.	.	ENSG00000070731	ENST00000225276	.	.	.	4.6	2.51	0.30379	.	0.189085	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8562	11.2553	0.49050	0.0:0.3572:0.6428:0.0	.	.	.	.	X	75	.	ENSP00000225276:Q75X	Q	-	1	0	ST6GALNAC2	72082180	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.006000	0.29847	0.444000	0.26612	-0.170000	0.13304	CAG	ST6GALNAC2	-	pirsf_Sialyl_trans		0.662	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC2	HGNC	protein_coding	OTTHUMT00000450650.1	G	NM_006456		74570585	-1	no_errors	ENST00000225276	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	74570585	G	A	74570585	4	1	58	1	0	0	0	0	0	1	0	0	15254	1299	45	1	929	1	ST6GALNAC2	17	74570585	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	411888	74570585	6624625	1129	8879										
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74625172	74625172	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatttgaagttggcggccttCagtctttggtttctctgcgt	12	8	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74625172C>T	ENST00000156626.7	-	2	952	c.753G>A	c.(751-753)ctG>ctA	p.L251L	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	251					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.L251L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCGGCCTTCAGTCTTTGGT	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											52	56	55					17																	74625172		2203	4300	6503	SO:0001819	synonymous_variant	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.753G>A	17.37:g.74625172C>T			Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.L251	ENST00000156626.7	37	c.753	CCDS11748.1	17																																																																																			ST6GALNAC1	-	NULL		0.547	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	C	NM_018414		74625172	-1	no_errors	ENST00000156626	ensembl	human	known	70_37	silent	SNP	0.034	T	T	74625172	C	T	74625172	2	4	58	1	0	0	0	0	0	0	0	1	15253	813	29	1		1	ST6GALNAC1	17	74625172	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	54587	74625172	6570038	1130	8880										
DNAH17	8632	genome.wustl.edu	37	chr17	76435191	76435191	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctgcagaatgacccagtgtCctttctctgcagccacgtcc	8	16	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:76435191C>G	ENST00000585328.1	-	73	11895	c.11771G>C	c.(11770-11772)gGa>gCa	p.G3924A	DNAH17_ENST00000389840.5_Missense_Mutation_p.G3915A|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3915	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3924A(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)			GACCCAGTGTCCTTTCTCTGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											75	58	64					17																	76435191		2203	4300	6503	SO:0001583	missense	8632			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.11771G>C	17.37:g.76435191C>G	ENSP00000465516:p.Gly3924Ala		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.G3915A	ENST00000585328.1	37	c.11744		17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807892	0.90623	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.50277	0.75	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000018	D	0.83422	0.5251	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91058	0.4883	10	0.87932	D	0	.	18.6943	0.91594	0.0:1.0:0.0:0.0	.	3924	E7EUM8	.	A	3924;3915	ENSP00000374490:G3915A	ENSP00000300671:G3924A	G	-	2	0	DNAH17	73946786	1.000000	0.71417	0.989000	0.46669	0.793000	0.44817	7.699000	0.84547	2.502000	0.84385	0.655000	0.94253	GGA	DNAH17	-	pfam_Dynein_heavy_dom		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76435191	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76435191	C	G	76435191	3	3	58	1	0	0	0	0	1	0	0	0	4611	855	30	1	1638	1	DNAH17	17	76435191	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1810019	76435191	4760019	1131	8881										
USP36	57602	genome.wustl.edu	37	chr17	76794610	76794610	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagtttctcctcttctctctCttaaattttttaattttctt	1	9	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:76794610C>G	ENST00000542802.3	-	20	3707	c.3264G>C	c.(3262-3264)aaG>aaC	p.K1088N	USP36_ENST00000449938.2_Missense_Mutation_p.K693N|USP36_ENST00000312010.6_Missense_Mutation_p.K1088N			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1086					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.E1088D(1)|p.K1088N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCTTCTCTCTCTTAAATTTTT	0.488																																																	2	Substitution - Missense(2)	cervix(2)											142	148	146					17																	76794610		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3264G>C	17.37:g.76794610C>G	ENSP00000441214:p.Lys1088Asn		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K1088N	ENST00000542802.3	37	c.3264	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	c	11.29	1.595012	0.28445	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.22743	2.95;1.94;2.95	4.79	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.72894	2.215	0.43693	D	0.996146	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.26815	-1.0092	10	0.72032	D	0.01	-19.3691	8.6604	0.34088	0.0:0.8193:0.0:0.1807	.	1088;693	Q9P275-2;E9PEW0	.;.	N	1088;693;1088	ENSP00000310590:K1088N;ENSP00000401119:K693N;ENSP00000441214:K1088N	ENSP00000310590:K1088N	K	-	3	2	USP36	74306205	1.000000	0.71417	0.983000	0.44433	0.174000	0.22865	1.166000	0.31834	1.010000	0.39314	0.450000	0.29827	AAG	USP36	-	NULL		0.488	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	C	NM_025090		76794610	-1	no_errors	ENST00000312010	ensembl	human	known	70_37	missense	SNP	0.995	G	G	76794610	C	G	76794610	3	3	58	1	0	0	0	0	1	0	0	0	17098	912	32	1	111	1	USP36	17	76794610	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	359419	76794610	4400600	1132	8882										
RNF213	57674	genome.wustl.edu	37	chr17	78328272	78328272	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgggtatccaagatgcgcctCagtgtctttttaaagaagca	10	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:78328272C>T	ENST00000582970.1	+	36	10901	c.10758C>T	c.(10756-10758)ctC>ctT	p.L3586L	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3635L|RNF213_ENST00000336301.6_Silent_p.L1659L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3586					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L3635L(1)|p.L1659L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATGCGCCTCAGTGTCTTTT	0.552																																																	2	Substitution - coding silent(2)	cervix(2)											93	87	89					17																	78328272		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10758C>T	17.37:g.78328272C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L3586	ENST00000582970.1	37	c.10758	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78328272	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.221	T	T	78328272	C	T	78328272	2	4	58	1	0	0	0	0	0	0	0	1	13507	813	29	1		1	RNF213	17	78328272	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1533662	78328272	2866938	1133	8883										
ZNF750	79755	genome.wustl.edu	37	chr17	80789825	80789826	+	Frame_Shift_Ins	INS	-	-	T													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttgtctggccccttgagtcINStgtgctcgccgactggaaca					rs142698629		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:80789825_80789826insT	ENST00000269394.3	-	2	1338_1339	c.505_506insA	c.(505-507)agafs	p.R169fs	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	169					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCCTTGAGTCTGTGCTCGCCG	0.634																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.506dupA	17.37:g.80789826_80789826dupT	ENSP00000269394:p.Arg169fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.R169fs	ENST00000269394.3	37	c.506_505	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.634	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789826	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	80789826	-	T	80789825	7	5	58	1	0	1	1	0	0	0	0	0	18162	913	32	0	1673	0	ZNF750	17	80789825	Frame_Shift_Ins	INS	-	TCGA-DR-A0ZM-01A-12D-A10S-08	2461553	80789825	405385	1134	8884										
ZNF750	79755	genome.wustl.edu	37	chr17	80789969	80789969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcccaggcacctgtgggttCcccgggcttgcagctccagg	14	15	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:80789969C>T	ENST00000269394.3	-	2	1195	c.362G>A	c.(361-363)gGa>gAa	p.G121E	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	121					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G121E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGTGGGTTCCCCGGGCTTG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											40	41	40					17																	80789969		2203	4300	6503	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.362G>A	17.37:g.80789969C>T	ENSP00000269394:p.Gly121Glu		Q9H899	Missense_Mutation	SNP	NULL	p.G121E	ENST00000269394.3	37	c.362	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	C	1.563	-0.536219	0.04082	.	.	ENSG00000141579	ENST00000269394	T	0.21932	1.98	5.86	-0.526	0.11913	.	0.507055	0.18827	N	0.130094	T	0.10766	0.0263	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22034	-1.0228	9	.	.	.	-10.0468	3.6403	0.08165	0.1445:0.23:0.4662:0.1593	.	121	Q32MQ0	ZN750_HUMAN	E	121	ENSP00000269394:G121E	.	G	-	2	0	ZNF750	78383258	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.149000	0.16243	0.376000	0.24707	-0.137000	0.14449	GGA	ZNF750	-	NULL		0.617	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	C	NM_024702		80789969	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	0.000	T	T	80789969	C	T	80789969	3	4	58	1	0	0	0	0	1	0	0	0	18162	855	30	1	1817	1	ZNF750	17	80789969	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	144	80789969	405241	1135	8885										
THOC1	9984	genome.wustl.edu	37	chr18	246446	246446	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttaaaaacagctaaaacttCttcagaatactgcaaaataa	3	8	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:246446C>G	ENST00000261600.6	-	11	803	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	266					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.E266Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GCTAAAACTTCTTCAGAATAC	0.308																																																	1	Substitution - Missense(1)	cervix(1)											41	42	41					18																	246446		1789	4041	5830	SO:0001583	missense	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.796G>C	18.37:g.246446C>G	ENSP00000261600:p.Glu266Gln		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	p.E266Q	ENST00000261600.6	37	c.796	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406851	0.83230	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.62723	1.935	0.80722	D	1	P;D	0.76494	0.902;0.999	P;D	0.72338	0.602;0.977	T	0.68526	-0.5385	9	0.15066	T	0.55	-16.0508	20.0784	0.97758	0.0:1.0:0.0:0.0	.	266;266	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	Q	266	.	ENSP00000261600:E266Q	E	-	1	0	THOC1	236446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.736000	0.93811	0.655000	0.94253	GAA	THOC1	-	pfam_THO_THOC1		0.308	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	C	NM_005131		246446	-1	no_errors	ENST00000261600	ensembl	human	known	70_37	missense	SNP	1.000	G	G	246446	C	G	246446	3	3	58	1	0	0	0	0	1	0	0	0	15894	922	32	1	1221	1	THOC1	18	246446	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		246446	77830802	1136	8886										
COLEC12	81035	genome.wustl.edu	37	chr18	346882	346882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccttcttggcttgaagaaaaAcctgctgcagattttgaaag	9	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:346882A>G	ENST00000400256.3	-	5	947	c.740T>C	c.(739-741)gTt>gCt	p.V247A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	247					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V247A(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGAAGAAAAACCTGCTGCAG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											102	94	97					18																	346882		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.740T>C	18.37:g.346882A>G	ENSP00000383115:p.Val247Ala		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V247A	ENST00000400256.3	37	c.740	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103938	0.37145	.	.	ENSG00000158270	ENST00000400256	T	0.77229	-1.08	6.08	6.08	0.98989	.	0.212927	0.49916	D	0.000126	T	0.62221	0.2410	N	0.14661	0.345	0.41412	D	0.987744	B	0.18610	0.029	B	0.12837	0.008	T	0.59979	-0.7352	10	0.44086	T	0.13	-16.3447	10.9027	0.47062	0.9305:0.0:0.0695:0.0	.	247	Q5KU26	COL12_HUMAN	A	247	ENSP00000383115:V247A	ENSP00000383115:V247A	V	-	2	0	COLEC12	336882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.872000	0.39549	2.333000	0.79357	0.533000	0.62120	GTT	COLEC12	-	NULL		0.517	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	A			346882	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	G	G	346882	A	G	346882	3	3	58	1	0	0	0	0	1	0	0	0	3717	43	2	5	1512	5	COLEC12	18	346882	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	100436	346882	77730366	1137	8887										
TGIF1	7050	genome.wustl.edu	37	chr18	3456381	3456381	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagcatctggcagtgagactGaggatgaggacagcatggac	15	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:3456381G>C	ENST00000330513.5	+	2	736	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TGIF1_ENST00000577543.1_Missense_Mutation_p.E16Q|TGIF1_ENST00000407501.2_Missense_Mutation_p.E16Q|TGIF1_ENST00000472042.1_5'UTR|TGIF1_ENST00000548489.2_Missense_Mutation_p.E30Q|TGIF1_ENST00000345133.5_5'UTR|TGIF1_ENST00000551541.1_5'UTR|TGIF1_ENST00000343820.5_Missense_Mutation_p.E16Q|TGIF1_ENST00000400167.2_5'UTR|TGIF1_ENST00000401449.1_5'UTR|TGIF1_ENST00000405385.3_5'UTR|TGIF1_ENST00000551402.1_Missense_Mutation_p.E16Q	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	145					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E145Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAGTGAGACTGAGGATGAGGA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											378	366	370					18																	3456381		2203	4300	6503	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.433G>C	18.37:g.3456381G>C	ENSP00000327959:p.Glu145Gln		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E145Q	ENST00000330513.5	37	c.433	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072752	0.55646	.	.	ENSG00000177426	ENST00000548489;ENST00000549253;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000330513	T;T;T;T;T;T	0.73152	0.56;0.51;0.51;-0.72;0.73;0.58	5.73	5.73	0.89815	.	0.382752	0.31484	N	0.007576	T	0.81545	0.4845	L	0.49778	1.585	0.80722	D	1	D;B;B;B	0.89917	1.0;0.293;0.158;0.166	D;B;B;B	0.77004	0.989;0.052;0.107;0.108	T	0.79541	-0.1761	10	0.42905	T	0.14	-11.8939	19.8959	0.96958	0.0:0.0:1.0:0.0	.	16;145;16;30	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	Q	30;19;16;16;16;16;145	ENSP00000447747:E30Q;ENSP00000339631:E16Q;ENSP00000384133:E16Q;ENSP00000448934:E16Q;ENSP00000446944:E16Q;ENSP00000327959:E145Q	ENSP00000327959:E145Q	E	+	1	0	TGIF1	3446381	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	9.083000	0.94067	2.704000	0.92352	0.655000	0.94253	GAG	TGIF1	-	NULL		0.502	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	G	NM_170695		3456381	1	no_errors	ENST00000330513	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3456381	G	C	3456381	3	2	58	1	0	0	0	0	1	0	0	0	15855	1291	45	1	521	1	TGIF1	18	3456381	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3109499	3456381	74620867	1138	8888										
LAMA1	284217	genome.wustl.edu	37	chr18	7009317	7009317	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaggacagacataaaatcctCtcgcgtgacaggtttttcag	10	9	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:7009317C>T	ENST00000389658.3	-	27	4015	c.3922G>A	c.(3922-3924)Gag>Aag	p.E1308K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1308	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1308K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATAAAATCCTCTCGCGTGACA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											115	109	111					18																	7009317		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3922G>A	18.37:g.7009317C>T	ENSP00000374309:p.Glu1308Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1308K	ENST00000389658.3	37	c.3922	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	9.233	1.036324	0.19669	.	.	ENSG00000101680	ENST00000389658	T	0.37411	1.2	6.15	1.17	0.20885	Laminin B type IV (2);Laminin B, subgroup (1);	0.570409	0.18290	N	0.145755	T	0.30947	0.0781	L	0.59967	1.855	0.09310	N	0.999994	B	0.31705	0.336	B	0.32090	0.14	T	0.22068	-1.0227	10	0.62326	D	0.03	.	6.7046	0.23244	0.6212:0.2515:0.1273:0.0	.	1308	P25391	LAMA1_HUMAN	K	1308	ENSP00000374309:E1308K	ENSP00000374309:E1308K	E	-	1	0	LAMA1	6999317	0.990000	0.36364	0.301000	0.25044	0.058000	0.15608	1.090000	0.30902	0.186000	0.20125	-1.132000	0.01976	GAG	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7009317	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.398	T	T	7009317	C	T	7009317	3	4	58	1	0	0	0	0	1	0	0	0	8625	922	32	1	5453	1	LAMA1	18	7009317	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3552936	7009317	71067931	1139	8889										
PTPRM	5797	genome.wustl.edu	37	chr18	8394576	8394576	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttcacgctgtgaagacactGaggaacaacaagcccaacat	8	11	1	3	rs371862139		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:8394576G>A	ENST00000332175.8	+	30	5309	c.4272G>A	c.(4270-4272)ctG>ctA	p.L1424L	PTPRM_ENST00000444013.1_Silent_p.L1211L|PTPRM_ENST00000400060.4_Silent_p.L1438L|PTPRM_ENST00000580170.1_Silent_p.L1437L|PTPRM_ENST00000400053.4_Silent_p.L1362L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1424	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1424L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGACACTGAGGAACAACA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	94	72	79		4311,4272	4	1	18		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1437/1466,1424/1453	8394576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4272G>A	18.37:g.8394576G>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1438	ENST00000332175.8	37	c.4314	CCDS11840.1	18																																																																																			PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8394576	1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8394576	G	A	8394576	2	1	58	1	0	0	0	0	0	0	0	1	12836	1277	45	1		1	PTPRM	18	8394576	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1385259	8394576	69682672	1140	8890										
RNMT	8731	genome.wustl.edu	37	chr18	13731616	13731616	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agtcttcattcaatattaatGaaaacacaacagcttctggg	6	8	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:13731616G>C	ENST00000383314.2	+	3	340	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	RNMT_ENST00000262173.3_Missense_Mutation_p.E34Q|RNMT_ENST00000589866.1_Missense_Mutation_p.E34Q|RNMT_ENST00000592764.1_Missense_Mutation_p.E34Q|RNMT_ENST00000543302.2_Missense_Mutation_p.E34Q|RNMT_ENST00000535051.1_Intron			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	34					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.E34Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAATATTAATGAAAACACAAC	0.373																																					GBM(29;474 594 19092 36647 41529)												1	Substitution - Missense(1)	cervix(1)											111	126	121					18																	13731616		2203	4300	6503	SO:0001583	missense	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.100G>C	18.37:g.13731616G>C	ENSP00000372804:p.Glu34Gln		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E34Q	ENST00000383314.2	37	c.100	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	15.74	2.924032	0.52653	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	4.36	0.52297	.	0.358466	0.31415	N	0.007684	T	0.61999	0.2392	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	T	0.61252	-0.7100	9	0.42905	T	0.14	-0.1611	10.1895	0.43017	0.0935:0.0:0.9065:0.0	.	34;34	O43148-2;O43148	.;MCES_HUMAN	Q	34	.	ENSP00000262173:E34Q	E	+	1	0	RNMT	13721616	0.243000	0.23878	0.749000	0.31150	0.506000	0.33950	1.151000	0.31651	1.328000	0.45358	0.655000	0.94253	GAA	RNMT	-	pirsf_mRNA_G-N7_MeTrfase		0.373	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	G	NM_003799		13731616	1	no_errors	ENST00000262173	ensembl	human	known	70_37	missense	SNP	0.958	C	C	13731616	G	C	13731616	3	2	58	1	0	0	0	0	1	0	0	0	13536	1291	45	1	102	1	RNMT	18	13731616	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5337040	13731616	64345632	1141	8891										
MC5R	4161	genome.wustl.edu	37	chr18	13825853	13825853	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acccaatgtcaaaaacaagtCttcaccatgtgaagacatgg	7	10	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:13825853C>T	ENST00000324750.3	+	1	311	c.89C>T	c.(88-90)tCt>tTt	p.S30F	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	30					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.S30F(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AAAAACAAGTCTTCACCATGT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											88	85	86					18																	13825853		2203	4300	6503	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.89C>T	18.37:g.13825853C>T	ENSP00000318077:p.Ser30Phe		B0YJ34|Q502V1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.S30F	ENST00000324750.3	37	c.89	CCDS11868.1	18	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162070	0.09287	.	.	ENSG00000176136	ENST00000324750	T	0.39406	1.08	5.19	3.29	0.37713	.	0.462003	0.23069	N	0.052282	T	0.22166	0.0534	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.19224	-1.0312	10	0.72032	D	0.01	.	8.7763	0.34765	0.1494:0.771:0.0:0.0796	.	30	P33032	MC5R_HUMAN	F	30	ENSP00000318077:S30F	ENSP00000318077:S30F	S	+	2	0	MC5R	13815853	0.632000	0.27172	0.015000	0.15790	0.013000	0.08279	3.402000	0.52608	1.190000	0.43042	0.455000	0.32223	TCT	MC5R	-	prints_Melancort_rcpt_5		0.468	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC5R	HGNC	protein_coding	OTTHUMT00000254638.1	C	NM_005913		13825853	1	no_errors	ENST00000324750	ensembl	human	known	70_37	missense	SNP	0.023	T	T	13825853	C	T	13825853	3	4	58	1	0	0	0	0	1	0	0	0	9390	913	32	1	91	1	MC5R	18	13825853	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	94237	13825853	64251395	1142	8892										
POTEC	388468	genome.wustl.edu	37	chr18	14534913	14534913	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accataccttccatatctatCaagtgcatttaaattagctt	3	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:14534913C>G	ENST00000358970.5	-	4	903	c.904G>C	c.(904-906)Gat>Cat	p.D302H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	302										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATATCTATCAAGTGCATTT	0.303																																																	0													11	16	14					18																	14534913		677	1508	2185	SO:0001583	missense	388468			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.904G>C	18.37:g.14534913C>G	ENSP00000351856:p.Asp302His			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D302H	ENST00000358970.5	37	c.904	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615736	0.28801	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.62105	0.05	1.73	1.73	0.24493	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.76793	0.4037	M	0.83852	2.665	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61481	-0.7054	9	0.87932	D	0	.	6.9499	0.24540	0.0:1.0:0.0:0.0	.	302	B2RU33	POTEC_HUMAN	H	302	ENSP00000351856:D302H	ENSP00000351856:D302H	D	-	1	0	POTEC	14524913	0.031000	0.19500	0.005000	0.12908	0.009000	0.06853	1.839000	0.39220	1.278000	0.44430	0.194000	0.17425	GAT	POTEC	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.303	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	C	XM_496269		14534913	-1	no_errors	ENST00000358970	ensembl	human	known	70_37	missense	SNP	0.015	G	G	14534913	C	G	14534913	3	3	58	1	0	0	0	0	1	0	0	0	12286	826	29	1	756	1	POTEC	18	14534913	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	709060	14534913	63542335	1143	8893										
CTAGE1	64693	genome.wustl.edu	37	chr18	19997772	19997772	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taaggatgagaatcgggtctCataccttcagtcagtgctgc	11	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:19997772C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Start_Codon_SNP_p.M1I			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.M1I(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATCGGGTCTCATACCTTCAG	0.517																																																	2	Substitution - Missense(2)	cervix(2)											67	61	63					18																	19997772		2203	4300	6503	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997772C>T	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.M1I	ENST00000525417.1	37	c.3		18	.	.	.	.	.	.	.	.	.	.	C	5.016	0.188713	0.09547	.	.	ENSG00000212710	ENST00000391403	T	0.56776	0.44	0.822	0.822	0.18806	.	.	.	.	.	T	0.31857	0.0810	.	.	.	0.80722	D	1	B	0.27351	0.176	B	0.26969	0.075	T	0.06303	-1.0834	7	.	.	.	.	4.9361	0.13941	0.0:1.0:0.0:0.0	.	1	Q96RT6	CTGE2_HUMAN	I	1	ENSP00000375220:M1I	.	M	-	3	0	CTAGE1	18251770	1.000000	0.71417	0.004000	0.12327	0.014000	0.08584	0.940000	0.28992	0.701000	0.31803	0.305000	0.20034	ATG	CTAGE1	-	NULL		0.517	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	C	NM_022663, NM_172241		19997772	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	missense	SNP	0.004	T	T	19997772	C	T	19997772	1	4	58	0	1	0	0	0	0	0	0	0	3997	826	29	1		1	CTAGE1	18	19997772	5'Flank	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5462859	19997772	58079476	1144	8894										
CDH2	1000	genome.wustl.edu	37	chr18	25583081	25583081	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtacctcaacatcccattGagggcattgggatcgtcagc	10	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:25583081G>T	ENST00000269141.3	-	7	1323	c.900C>A	c.(898-900)ctC>ctA	p.L300L	CDH2_ENST00000399380.3_Silent_p.L269L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	300	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L300L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACATCCCATTGAGGGCATTGG	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											219	158	179					18																	25583081		2203	4300	6503	SO:0001819	synonymous_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.900C>A	18.37:g.25583081G>T			A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.L300	ENST00000269141.3	37	c.900	CCDS11891.1	18																																																																																			CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	G	NM_001792		25583081	-1	no_errors	ENST00000269141	ensembl	human	known	70_37	silent	SNP	0.014	T	T	25583081	G	T	25583081	2	4	58	1	0	0	0	0	0	0	0	1	3110	1277	45	3		3	CDH2	18	25583081	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5585309	25583081	52494167	1145	8895										
DSG4	147409	genome.wustl.edu	37	chr18	28993427	28993427	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgagcggcaatattttagtaGggccagaaattcaagtgatg	12	5	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:28993427G>C	ENST00000308128.4	+	16	3127	c.2992G>C	c.(2992-2994)Ggg>Cgg	p.G998R	DSG4_ENST00000359747.4_Missense_Mutation_p.G1017R|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	998					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1017R(2)|p.G998R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTTTAGTAGGGCCAGAAAT	0.502																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											127	126	127					18																	28993427		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2992G>C	18.37:g.28993427G>C	ENSP00000311859:p.Gly998Arg		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.G1017R	ENST00000308128.4	37	c.3049	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292392	0.40594	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.71103	-0.43;-0.54	5.56	5.56	0.83823	.	0.000000	0.35436	N	0.003209	T	0.74023	0.3662	L	0.60455	1.87	0.34617	D	0.718191	D;B	0.58268	0.982;0.151	P;B	0.58660	0.843;0.032	T	0.76906	-0.2786	10	0.23891	T	0.37	.	7.5063	0.27547	0.0836:0.0:0.7499:0.1665	.	1017;998	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	R	998;1017	ENSP00000311859:G998R;ENSP00000352785:G1017R	ENSP00000311859:G998R	G	+	1	0	DSG4	27247425	0.796000	0.28864	1.000000	0.80357	0.923000	0.55619	1.802000	0.38853	2.603000	0.88011	0.591000	0.81541	GGG	DSG4	-	NULL		0.502	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	G	NM_177986		28993427	1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	0.997	C	C	28993427	G	C	28993427	3	2	58	1	0	0	0	0	1	0	0	0	4789	1000	35	4	3175	4	DSG4	18	28993427	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3410346	28993427	49083821	1146	8896										
DSG3	1830	genome.wustl.edu	37	chr18	29046629	29046629	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttgtctccgctagaacactGaataatagatacactggccc	8	11	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29046629G>A	ENST00000257189.4	+	11	1631	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	516					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L516L(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTAGAACACTGAATAATAGAT	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											128	116	120					18																	29046629		2203	4300	6503	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1548G>A	18.37:g.29046629G>A			A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.L516	ENST00000257189.4	37	c.1548	CCDS11898.1	18																																																																																			DSG3	-	superfamily_Cadherin-like		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29046629	1	no_errors	ENST00000257189	ensembl	human	known	70_37	silent	SNP	0.000	A	A	29046629	G	A	29046629	2	1	58	1	0	0	0	0	0	0	0	1	4788	1277	45	1		1	DSG3	18	29046629	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	53202	29046629	49030619	1147	8897										
DSG3	1830	genome.wustl.edu	37	chr18	29049131	29049131	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtacttacagacagtcaGaacaatcggtgtgagatgcc	11	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29049131G>C	ENST00000257189.4	+	12	1799	c.1716G>C	c.(1714-1716)caG>caC	p.Q572H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	572					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q572H(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGACAGTCAGAACAATCGGT	0.522																																																	1	Substitution - Missense(1)	cervix(1)											154	140	144					18																	29049131		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1716G>C	18.37:g.29049131G>C	ENSP00000257189:p.Gln572His		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.Q572H	ENST00000257189.4	37	c.1716	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292590	0.23564	.	.	ENSG00000134757	ENST00000257189	T	0.61627	0.09	5.95	3.8	0.43715	.	0.476025	0.17375	N	0.176533	T	0.42223	0.1193	L	0.52759	1.655	0.09310	N	1	B	0.31790	0.34	B	0.27170	0.077	T	0.19778	-1.0295	10	0.12430	T	0.62	.	4.9681	0.14100	0.36:0.0:0.64:0.0	.	572	P32926	DSG3_HUMAN	H	572	ENSP00000257189:Q572H	ENSP00000257189:Q572H	Q	+	3	2	DSG3	27303129	0.851000	0.29673	0.026000	0.17262	0.016000	0.09150	0.864000	0.27926	1.391000	0.46566	0.655000	0.94253	CAG	DSG3	-	superfamily_Cadherin-like		0.522	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29049131	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.082	C	C	29049131	G	C	29049131	3	2	58	1	0	0	0	0	1	0	0	0	4788	933	33	1	1762	1	DSG3	18	29049131	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2502	29049131	49028117	1148	8898										
DSG3	1830	genome.wustl.edu	37	chr18	29054363	29054363	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttttctggactcctacttttCtcaggtaatttggtgaaaaa	7	7	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29054363C>T	ENST00000257189.4	+	15	2464	c.2381C>T	c.(2380-2382)tCt>tTt	p.S794F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S794F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCTACTTTTCTCAGGTAATT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											126	133	131					18																	29054363		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2381C>T	18.37:g.29054363C>T	ENSP00000257189:p.Ser794Phe		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.S794F	ENST00000257189.4	37	c.2381	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397217	0.83120	.	.	ENSG00000134757	ENST00000257189	T	0.60548	0.18	6.06	6.06	0.98353	.	0.000000	0.50627	D	0.000117	T	0.77948	0.4207	M	0.77313	2.365	0.43798	D	0.996345	D	0.89917	1.0	D	0.80764	0.994	T	0.78700	-0.2102	10	0.72032	D	0.01	.	18.8049	0.92032	0.0:1.0:0.0:0.0	.	794	P32926	DSG3_HUMAN	F	794	ENSP00000257189:S794F	ENSP00000257189:S794F	S	+	2	0	DSG3	27308361	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.182000	0.50910	2.879000	0.98667	0.650000	0.86243	TCT	DSG3	-	prints_Desmoglein		0.368	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29054363	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29054363	C	T	29054363	3	4	58	1	0	0	0	0	1	0	0	0	4788	913	32	1	2439	1	DSG3	18	29054363	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	5232	29054363	49022885	1149	8899										
TTR	7276	genome.wustl.edu	37	chr18	29171890	29171890	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttctcatcgtctgctcctcCtctgccttgctggactggta	8	15	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29171890C>G	ENST00000237014.3	+	1	202	c.25C>G	c.(25-27)Ctc>Gtc	p.L9V		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	9					extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.L9V(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCTGCTCCTCCTCTGCCTTGC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											199	151	167					18																	29171890		2203	4300	6503	SO:0001583	missense	7276			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.25C>G	18.37:g.29171890C>G	ENSP00000237014:p.Leu9Val		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	p.L9V	ENST00000237014.3	37	c.25	CCDS11899.1	18	.	.	.	.	.	.	.	.	.	.	C	1.856	-0.463756	0.04476	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.95656	-3.77	5.85	3.96	0.45880	.	0.300127	0.30704	N	0.009059	D	0.89262	0.6665	N	0.25286	0.73	0.36813	D	0.885992	B	0.14012	0.009	B	0.14578	0.011	D	0.85173	0.0999	10	0.17369	T	0.5	-9.6305	9.803	0.40775	0.0:0.7139:0.2082:0.0779	.	9	P02766	TTHY_HUMAN	V	9	ENSP00000237014:L9V	ENSP00000237014:L9V	L	+	1	0	TTR	27425888	0.942000	0.31987	0.861000	0.33841	0.075000	0.17131	0.956000	0.29202	1.480000	0.48289	0.585000	0.79938	CTC	TTR	-	NULL		0.502	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTR	HGNC	protein_coding	OTTHUMT00000254948.1	C	NM_000371		29171890	1	no_errors	ENST00000237014	ensembl	human	known	70_37	missense	SNP	0.978	G	G	29171890	C	G	29171890	3	3	58	1	0	0	0	0	1	0	0	0	16769	681	24	4	27	4	TTR	18	29171890	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	117527	29171890	48905358	1150	8900										
KIAA1012	22878	genome.wustl.edu	37	chr18	29437732	29437732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtacacacagaggtagcatCtgtcacaacagtcttgtaag	9	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29437732C>G	ENST00000283351.4	-	20	3294	c.2959G>C	c.(2959-2961)Gat>Cat	p.D987H	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D933H	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	987					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.D987H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGTAGCATCTGTCACAACA	0.458																																																	1	Substitution - Missense(1)	cervix(1)											187	169	175					18																	29437732		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2959G>C	18.37:g.29437732C>G	ENSP00000283351:p.Asp987His		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.D987H	ENST00000283351.4	37	c.2959	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259877	0.23051	.	.	ENSG00000153339	ENST00000283351	T	0.08807	3.05	5.21	5.21	0.72293	.	0.269109	0.41001	D	0.000972	T	0.11324	0.0276	L	0.54323	1.7	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.02966	-1.1088	10	0.45353	T	0.12	.	15.4774	0.75493	0.0:0.8611:0.1389:0.0	.	987	Q9Y2L5	TPPC8_HUMAN	H	987	ENSP00000283351:D987H	ENSP00000283351:D987H	D	-	1	0	TRAPPC8	27691730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.661000	0.54503	2.582000	0.87167	0.563000	0.77884	GAT	TRAPPC8	-	NULL		0.458	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	C	NM_014939		29437732	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29437732	C	G	29437732	3	3	58	1	0	0	0	0	1	0	0	0	8224	913	32	1	1388	1	KIAA1012	18	29437732	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	265842	29437732	48639516	1151	8901										
KIAA1632	57724	genome.wustl.edu	37	chr18	43447670	43447670	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agttgacttcacagagtacaGaccccaaaaataagaaacag	7	9	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:43447670G>A	ENST00000282041.5	-	37	6303	c.6269C>T	c.(6268-6270)tCt>tTt	p.S2090F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2090					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.S2090F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACAGAGTACAGACCCCAAAAA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											91	87	88					18																	43447670		1876	4101	5977	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6269C>T	18.37:g.43447670G>A	ENSP00000282041:p.Ser2090Phe		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.S2090F	ENST00000282041.5	37	c.6269	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025775	0.35701	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.11604	2.76	5.46	5.46	0.80206	.	.	.	.	.	T	0.18299	0.0439	L	0.59436	1.845	0.38315	D	0.943375	P	0.43412	0.806	P	0.45639	0.488	T	0.00812	-1.1556	9	0.52906	T	0.07	-2.8537	15.3863	0.74703	0.0:0.0:0.8522:0.1478	.	2090	Q9HCE0	EPG5_HUMAN	F	2090;18;965	ENSP00000282041:S2090F	ENSP00000282041:S2090F	S	-	2	0	EPG5	41701668	1.000000	0.71417	0.912000	0.35992	0.950000	0.60333	3.954000	0.56708	2.726000	0.93360	0.655000	0.94253	TCT	EPG5	-	NULL		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43447670	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	missense	SNP	0.842	A	A	43447670	G	A	43447670	3	1	58	1	0	0	0	0	1	0	0	0	8269	942	33	1	1502	1	KIAA1632	18	43447670	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	14009938	43447670	34629578	1152	8902										
KIAA1632	57724	genome.wustl.edu	37	chr18	43450595	43450595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttccatggcagtttccggtaCgtgctatggaaagcgtacag	12	9	0	0	rs368651243		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:43450595C>T	ENST00000282041.5	-	36	6196	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2054					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.T2054T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTTTCCGGTACGTGCTATGGA	0.517																																																	1	Substitution - coding silent(1)	cervix(1)						T		0,3980		0,0,1990	110	111	110		6162	-12.1	0	18		110	3,8325		0,3,4161	no	coding-synonymous	EPG5	NM_020964.2		0,3,6151	TT,TC,CC		0.036,0.0,0.0244		2054/2580	43450595	3,12305	1990	4164	6154	SO:0001819	synonymous_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6162G>A	18.37:g.43450595C>T			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.T2054	ENST00000282041.5	37	c.6162	CCDS11926.2	18																																																																																			EPG5	-	NULL		0.517	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	C	NM_020964		43450595	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	silent	SNP	0.008	T	T	43450595	C	T	43450595	2	4	58	1	0	0	0	0	0	0	0	1	8269	523	19	2		2	KIAA1632	18	43450595	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2925	43450595	34626653	1153	8903										
KIAA1632	57724	genome.wustl.edu	37	chr18	43467829	43467829	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaggctaatgccaactttctGaatcccaggtgtaggctgca	10	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:43467829G>A	ENST00000282041.5	-	29	5030	c.4996C>T	c.(4996-4998)Cag>Tag	p.Q1666*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1666					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q1666*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAACTTTCTGAATCCCAGGT	0.448																																																	1	Substitution - Nonsense(1)	cervix(1)											149	138	142					18																	43467829		1911	4147	6058	SO:0001587	stop_gained	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4996C>T	18.37:g.43467829G>A	ENSP00000282041:p.Gln1666*		A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	NULL	p.Q1666*	ENST00000282041.5	37	c.4996	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	46	12.237367	0.99649	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	.	.	.	6.02	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-11.1506	15.051	0.71867	0.0:0.0:0.7289:0.2711	.	.	.	.	X	1666;541	.	ENSP00000282041:Q1666X	Q	-	1	0	EPG5	41721827	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	5.278000	0.65592	1.497000	0.48584	0.650000	0.86243	CAG	EPG5	-	NULL		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43467829	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	43467829	G	A	43467829	4	1	58	1	0	0	0	0	0	1	0	0	8269	1299	45	1	2807	1	KIAA1632	18	43467829	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	17234	43467829	34609419	1154	8904										
DCC	1630	genome.wustl.edu	37	chr18	50278549	50278549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accgaggagttccagtgatcAagtggaagaaagatggcatt	13	6	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:50278549A>C	ENST00000442544.2	+	2	833	c.217A>C	c.(217-219)Aag>Cag	p.K73Q	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	73	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.K73Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCAGTGATCAAGTGGAAGAA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											94	90	91					18																	50278549		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.217A>C	18.37:g.50278549A>C	ENSP00000389140:p.Lys73Gln			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K73Q	ENST00000442544.2	37	c.217	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506357	0.26949	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.10668	2.85	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.135191	0.48767	D	0.000164	T	0.06142	0.0159	N	0.05199	-0.095	0.80722	D	1	B	0.30068	0.267	B	0.26517	0.07	T	0.44050	-0.9353	10	0.38643	T	0.18	.	14.1956	0.65670	1.0:0.0:0.0:0.0	.	73	P43146	DCC_HUMAN	Q	73;6	ENSP00000389140:K73Q	ENSP00000304146:K6Q	K	+	1	0	DCC	48532547	0.999000	0.42202	1.000000	0.80357	0.779000	0.44077	1.375000	0.34295	2.001000	0.58596	0.533000	0.62120	AAG	DCC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	A	NM_005215		50278549	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50278549	A	C	50278549	3	2	58	1	0	0	0	0	1	0	0	0	4287	131	5	5	223	5	DCC	18	50278549	Missense_Mutation	SNP	A	TCGA-DR-A0ZM-01A-12D-A10S-08	6810720	50278549	27798699	1155	8905										
ZCCHC2	54877	genome.wustl.edu	37	chr18	60237357	60237357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtgaatttggacattggctCtggacatgacacatgtggag	13	6	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:60237357C>G	ENST00000269499.5	+	12	2286	c.1868C>G	c.(1867-1869)tCt>tGt	p.S623C	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S302C	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	623						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.S623C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACATTGGCTCTGGACATGAC	0.313																																																	1	Substitution - Missense(1)	cervix(1)											64	61	62					18																	60237357		1838	4097	5935	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1868C>G	18.37:g.60237357C>G	ENSP00000269499:p.Ser623Cys		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S623C	ENST00000269499.5	37	c.1868	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967700	0.74131	.	.	ENSG00000141664	ENST00000269499	T	0.26223	1.75	5.08	5.08	0.68730	.	0.189721	0.39083	N	0.001472	T	0.35828	0.0945	L	0.29908	0.895	0.47819	D	0.999524	D	0.76494	0.999	D	0.64042	0.921	T	0.05616	-1.0874	10	0.72032	D	0.01	-18.2335	13.3448	0.60566	0.0:0.9246:0.0:0.0754	.	623	Q9C0B9	ZCHC2_HUMAN	C	623	ENSP00000269499:S623C	ENSP00000269499:S623C	S	+	2	0	ZCCHC2	58388337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.287000	0.51732	2.793000	0.96121	0.655000	0.94253	TCT	ZCCHC2	-	NULL		0.313	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	C	NM_017742		60237357	1	no_errors	ENST00000269499	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60237357	C	G	60237357	3	3	58	1	0	0	0	0	1	0	0	0	17617	913	32	1	1914	1	ZCCHC2	18	60237357	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9958808	60237357	17839891	1156	8906										
DOK6	220164	genome.wustl.edu	37	chr18	67365819	67365819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actcaacgtggttcacgtttGagtcaggaaggtaagatcta	11	7	4	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:67365819G>A	ENST00000382713.5	+	5	779	c.589G>A	c.(589-591)Gag>Aag	p.E197K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	197	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.							p.E197K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCACGTTTGAGTCAGGAAG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											62	55	57					18																	67365819		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.589G>A	18.37:g.67365819G>A	ENSP00000372160:p.Glu197Lys		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E197K	ENST00000382713.5	37	c.589	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442637	0.63067	.	.	ENSG00000206052	ENST00000382713	D	0.90324	-2.65	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.103230	0.64402	D	0.000003	D	0.96303	0.8794	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.96673	0.9498	10	0.87932	D	0	.	18.8571	0.92257	0.0:0.0:1.0:0.0	.	197	Q6PKX4	DOK6_HUMAN	K	197	ENSP00000372160:E197K	ENSP00000372160:E197K	E	+	1	0	DOK6	65516799	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.722000	0.98770	2.709000	0.92574	0.591000	0.81541	GAG	DOK6	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.478	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721		67365819	1	no_errors	ENST00000382713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67365819	G	A	67365819	3	1	58	1	0	0	0	0	1	0	0	0	4711	1291	45	1	607	1	DOK6	18	67365819	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7128462	67365819	10711429	1157	8907										
CD226	10666	genome.wustl.edu	37	chr18	67614259	67614259	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acacattctagagacatgttCtcggcaaagggaactgatgt	10	8	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:67614259C>G	ENST00000280200.4	-	3	361	c.93G>C	c.(91-93)gaG>gaC	p.E31D	CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.E31D|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	31	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.E31D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GAGACATGTTCTCGGCAAAGG	0.433																																					NSCLC(184;838 2130 8673 21498 50749)												1	Substitution - Missense(1)	cervix(1)											107	92	97					18																	67614259		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.93G>C	18.37:g.67614259C>G	ENSP00000280200:p.Glu31Asp		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E31D	ENST00000280200.4	37	c.93	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440764	0.43326	.	.	ENSG00000150637	ENST00000280200	T	0.02863	4.13	5.51	3.74	0.42951	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340831	0.33346	N	0.005015	T	0.06325	0.0163	L	0.48642	1.525	0.35148	D	0.769506	P	0.50819	0.939	P	0.53809	0.735	T	0.29882	-0.9997	10	0.56958	D	0.05	.	8.7285	0.34485	0.0:0.8251:0.0:0.1749	.	31	Q15762	CD226_HUMAN	D	31	ENSP00000280200:E31D	ENSP00000280200:E31D	E	-	3	2	CD226	65765239	0.972000	0.33761	0.772000	0.31596	0.038000	0.13279	0.569000	0.23638	0.817000	0.34445	0.655000	0.94253	GAG	CD226	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.433	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	C	NM_006566		67614259	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	missense	SNP	0.985	G	G	67614259	C	G	67614259	3	3	58	1	0	0	0	0	1	0	0	0	2991	912	32	1	937	1	CD226	18	67614259	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	248440	67614259	10462989	1158	8908										
NETO1	81832	genome.wustl.edu	37	chr18	70417733	70417733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctttggacatactttttacGaggctgtttgatctgtacga	9	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:70417733G>A	ENST00000327305.6	-	9	1762	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	NETO1_ENST00000299430.2_Missense_Mutation_p.R368C|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.R369C	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	369					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R369C(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TACTTTTTACGAGGCTGTTTG	0.463																																																	1	Substitution - Missense(1)	cervix(1)											97	85	89					18																	70417733		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1105C>T	18.37:g.70417733G>A	ENSP00000313088:p.Arg369Cys		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R369C	ENST00000327305.6	37	c.1105	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524171	0.85600	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.45668	0.89;0.89	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000009	T	0.65260	0.2674	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67968	-0.5533	10	0.87932	D	0	-4.4528	19.1774	0.93607	0.0:0.0:1.0:0.0	.	368;369	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	C	369;368	ENSP00000313088:R369C;ENSP00000299430:R368C	ENSP00000299430:R368C	R	-	1	0	NETO1	68568713	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.689000	0.74562	2.594000	0.87642	0.455000	0.32223	CGT	NETO1	-	NULL		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	G	NM_138999		70417733	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70417733	G	A	70417733	3	1	58	1	0	0	0	0	1	0	0	0	10363	1058	37	1	504	1	NETO1	18	70417733	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2803474	70417733	7659515	1159	8909										
ZNF236	7776	genome.wustl.edu	37	chr18	74616407	74616407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ataattttgtcaatgaagcaGatagaccatacaagtgtttt	7	5	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:74616407G>C	ENST00000253159.8	+	12	2158	c.1960G>C	c.(1960-1962)Gat>Cat	p.D654H	ZNF236_ENST00000320610.9_Missense_Mutation_p.D656H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	654					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D654H(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAATGAAGCAGATAGACCATA	0.343																																																	2	Substitution - Missense(2)	cervix(2)											105	91	95					18																	74616407		1830	4087	5917	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1960G>C	18.37:g.74616407G>C	ENSP00000253159:p.Asp654His		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D654H	ENST00000253159.8	37	c.1960	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568435	0.86439	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12361	2.69;2.85	5.35	5.35	0.76521	.	0.056253	0.64402	D	0.000002	T	0.22627	0.0546	N	0.24115	0.695	0.58432	D	0.999998	D	0.67145	0.996	P	0.58013	0.831	T	0.01591	-1.1317	10	0.87932	D	0	.	19.4274	0.94749	0.0:0.0:1.0:0.0	.	654	Q9UL36	ZN236_HUMAN	H	654	ENSP00000253159:D654H;ENSP00000444524:D654H	ENSP00000253159:D654H	D	+	1	0	ZNF236	72745395	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.628000	0.90979	2.663000	0.90544	0.563000	0.77884	GAT	ZNF236	-	NULL		0.343	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74616407	1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74616407	G	C	74616407	3	2	58	1	0	0	0	0	1	0	0	0	17819	942	33	1	2006	1	ZNF236	18	74616407	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4198674	74616407	3460841	1160	8910										
ADNP2	22850	genome.wustl.edu	37	chr18	77895867	77895867	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcactggtgcctgtgtatgtGaaggtgaggcctcaggctga	15	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:77895867G>A	ENST00000262198.4	+	4	3026	c.2571G>A	c.(2569-2571)gtG>gtA	p.V857V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	857					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.V857V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGTGTATGTGAAGGTGAGGC	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											55	58	57					18																	77895867		2203	4300	6503	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2571G>A	18.37:g.77895867G>A			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.V857	ENST00000262198.4	37	c.2571	CCDS32853.1	18																																																																																			ADNP2	-	NULL		0.567	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	G	NM_014913		77895867	1	no_errors	ENST00000262198	ensembl	human	known	70_37	silent	SNP	0.266	A	A	77895867	G	A	77895867	2	1	58	1	0	0	0	0	0	0	0	1	324	1277	45	1		1	ADNP2	18	77895867	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3279460	77895867	181381	1161	8911										
POLRMT	5442	genome.wustl.edu	37	chr19	621156	621156	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgcttcttcaaccccgtgaGattgaccaggtggatcttga	10	12	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:621156G>C	ENST00000588649.2	-	10	2626	c.2542C>G	c.(2542-2544)Ctc>Gtc	p.L848V	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	848	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.L848V(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCCCGTGAGATTGACCAGG	0.682																																																	1	Substitution - Missense(1)	cervix(1)											29	34	32					19																	621156		2203	4297	6500	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2542C>G	19.37:g.621156G>C	ENSP00000465759:p.Leu848Val		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.L863V	ENST00000588649.2	37	c.2587	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	14.69	2.610447	0.46527	.	.	ENSG00000099821	ENST00000215591	T	0.47528	0.84	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	L	0.60957	1.885	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.65274	-0.6208	10	0.46703	T	0.11	-46.2405	16.1611	0.81712	0.0:0.0:1.0:0.0	.	848	O00411	RPOM_HUMAN	V	848	ENSP00000215591:L848V	ENSP00000215591:L848V	L	-	1	0	POLRMT	572156	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	4.873000	0.63057	2.283000	0.76528	0.455000	0.32223	CTC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	G	NM_005035		621156	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	1.000	C	C	621156	G	C	621156	3	2	58	1	0	0	0	0	1	0	0	0	12262	942	33	1	1198	1	POLRMT	19	621156	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		621156	58507827	1162	8912										
POLRMT	5442	genome.wustl.edu	37	chr19	630038	630038	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggcatccttggcccccatCtggaccttcctgggtggctg	13	14	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:630038C>G	ENST00000588649.2	-	3	408	c.324G>C	c.(322-324)caG>caC	p.Q108H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	108					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.Q108H(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCCCCATCTGGACCTTCC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											46	47	47					19																	630038		2203	4300	6503	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.324G>C	19.37:g.630038C>G	ENSP00000465759:p.Gln108His		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.Q123H	ENST00000588649.2	37	c.369	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426139	0.25726	.	.	ENSG00000099821	ENST00000215591	T	0.47528	0.84	4.02	1.76	0.24704	.	0.963754	0.08523	N	0.933132	T	0.33731	0.0873	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26326	-1.0106	10	0.45353	T	0.12	-12.8119	7.2048	0.25901	0.0:0.5639:0.3423:0.0938	.	108	O00411	RPOM_HUMAN	H	108	ENSP00000215591:Q108H	ENSP00000215591:Q108H	Q	-	3	2	POLRMT	581038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.036000	0.13819	0.265000	0.21872	0.561000	0.74099	CAG	POLRMT	-	NULL		0.627	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	C	NM_005035		630038	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	0.000	G	G	630038	C	G	630038	3	3	58	1	0	0	0	0	1	0	0	0	12262	912	32	1	3444	1	POLRMT	19	630038	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	8882	630038	58498945	1163	8913										
MED16	10025	genome.wustl.edu	37	chr19	881596	881596	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtgtgtcgctggccaccttGaggtcggtgttggtgagcga	17	8	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:881596G>C	ENST00000589119.1	-	6	1103	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	MED16_ENST00000312090.6_Silent_p.L368L|MED16_ENST00000395808.3_Silent_p.L368L|MED16_ENST00000269814.4_Silent_p.L368L|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Silent_p.L368L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	368					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L368L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCACCTTGAGGTCGGTGT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											85	75	79					19																	881596		2203	4295	6498	SO:0001819	synonymous_variant	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1104C>G	19.37:g.881596G>C			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L368	ENST00000589119.1	37	c.1104	CCDS12047.1	19																																																																																			MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom		0.642	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	G	NM_005481		881596	-1	no_errors	ENST00000325464	ensembl	human	known	70_37	silent	SNP	0.995	C	C	881596	G	C	881596	2	2	58	1	0	0	0	0	0	0	0	1	9457	1277	45	1		1	MED16	19	881596	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	251558	881596	58247387	1164	8914										
DOT1L	84444	genome.wustl.edu	37	chr19	2226837	2226837	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgcctcccggaagcctcctCagcggccccggcctggcccc	12	21	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:2226837C>T	ENST00000398665.3	+	27	4353	c.4317C>T	c.(4315-4317)ctC>ctT	p.L1439L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1439					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.L1439L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCCTCCTCAGCGGCCCCG	0.756																																																	2	Substitution - coding silent(2)	cervix(2)											11	16	15					19																	2226837		1799	4022	5821	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4317C>T	19.37:g.2226837C>T			O60379|Q96JL1	Silent	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.L1439	ENST00000398665.3	37	c.4317	CCDS42460.1	19																																																																																			DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	C	NM_032482		2226837	1	no_errors	ENST00000398665	ensembl	human	known	70_37	silent	SNP	0.764	T	T	2226837	C	T	2226837	2	4	58	1	0	0	0	0	0	0	0	1	4719	813	29	1		1	DOT1L	19	2226837	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1345241	2226837	56902146	1165	8915										
C19orf28	126321	genome.wustl.edu	37	chr19	3557256	3557256	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggagctgtaggcgcgcaccGagtgcaggtagagcagcagg	19	9	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:3557256G>C	ENST00000355415.2	-	1	315	c.146C>G	c.(145-147)tCg>tGg	p.S49W	MFSD12_ENST00000398558.4_Missense_Mutation_p.S49W|MFSD12_ENST00000389395.3_Missense_Mutation_p.S49W|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_Intron|AC005786.5_ENST00000592368.1_lincRNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	49					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S49W(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCGCGCACCGAGTGCAGGTA	0.711																																																	2	Substitution - Missense(2)	cervix(2)											16	20	19					19																	3557256		2083	4217	6300	SO:0001583	missense	126321			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.146C>G	19.37:g.3557256G>C	ENSP00000347583:p.Ser49Trp		A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S49W	ENST00000355415.2	37	c.146	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597348	0.66332	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.87966	-2.32;-2.32;-2.32	3.59	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);	0.262738	0.32372	N	0.006181	D	0.91222	0.7234	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.70227	0.959;0.944;0.968	D	0.92167	0.5740	10	0.66056	D	0.02	-8.3078	14.6885	0.69068	0.0:0.0:1.0:0.0	.	49;49;49	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	W	49	ENSP00000374046:S49W;ENSP00000381566:S49W;ENSP00000347583:S49W	ENSP00000347583:S49W	S	-	2	0	C19orf28	3508256	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.864000	0.62990	1.985000	0.57927	0.561000	0.74099	TCG	MFSD12	-	superfamily_MFS_dom_general_subst_transpt		0.711	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	G	NM_174983		3557256	-1	no_errors	ENST00000398558	ensembl	human	known	70_37	missense	SNP	0.999	C	C	3557256	G	C	3557256	3	2	58	1	0	0	0	0	1	0	0	0	1922	1059	37	1	1543	1	C19orf28	19	3557256	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1330419	3557256	55571727	1166	8916										
HMG20B	10362	genome.wustl.edu	37	chr19	3576258	3576258	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcccttcccctcccccgccaGaagactcgagctctgggctc	9	20	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:3576258G>C	ENST00000333651.6	+	6	547		c.e6-1		MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B						blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCGCCAGAAGACTCGAG	0.627																																																	1	Unknown(1)	cervix(1)											56	63	60					19																	3576258		2056	4171	6227	SO:0001630	splice_region_variant	10362			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"High mobility group / Non-canonical"	5002	protein-coding gene	gene with protein product	"HMG box domain containing 2"	605535	"high-mobility group 20B"			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.473-1G>C	19.37:g.3576258G>C			A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Splice_Site	SNP	-	e5-1	ENST00000333651.6	37	c.473-1	CCDS45919.1	19	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330432	0.24167	.	.	ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7244	0.62750	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMG20B	3527258	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.193000	0.65120	2.006000	0.58801	0.561000	0.74099	.	HMG20B	-	-		0.627	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20B	HGNC	protein_coding	OTTHUMT00000318088.1	G	NM_006339	Intron	3576258	1	no_errors	ENST00000333651	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	3576258	G	C	3576258	5	2	58	1	0	0	0	0	0	0	1	0	7242	956	33	1	490	1	HMG20B	19	3576258	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	19002	3576258	55552725	1167	8917										
EEF2	1938	genome.wustl.edu	37	chr19	3984340	3984340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgcggatctggtctaccgtGaagttcacctgggcaagaca	13	11	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:3984340G>A	ENST00000309311.6	-	2	100	c.12C>T	c.(10-12)ttC>ttT	p.F4F	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	4					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTACCGTGAAGTTCACCT	0.562																																					Colon(165;1804 1908 4071 6587 18799)												0													162	145	151					19																	3984340		2203	4300	6503	SO:0001819	synonymous_variant	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.12C>T	19.37:g.3984340G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.F4	ENST00000309311.6	37	c.12	CCDS12117.1	19																																																																																			EEF2	-	NULL		0.562	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3984340	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3984340	G	A	3984340	2	1	58	1	0	0	0	0	0	0	0	1	4939	1281	45	1		1	EEF2	19	3984340	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	408082	3984340	55144643	1168	8918										
PLIN4	729359	genome.wustl.edu	37	chr19	4511860	4511860	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgacattcactgcccccatGagcccagtagtgactgtgtc	10	14	1	2	rs79731243	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:4511860G>C	ENST00000301286.3	-	3	2069	c.2070C>G	c.(2068-2070)ctC>ctG	p.L690L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	690	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGCCCCCATGAGCCCAGTAG	0.587																																																	0													240	258	252					19																	4511860		2153	4244	6397	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2070C>G	19.37:g.4511860G>C			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L690	ENST00000301286.3	37	c.2070	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	G	XM_170901		4511860	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.155	C	C	4511860	G	C	4511860	2	2	58	1	0	0	0	0	0	0	0	1	12116	1277	45	1		1	PLIN4	19	4511860	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	527520	4511860	54617123	1169	8919										
EMR1	2015	genome.wustl.edu	37	chr19	6908765	6908765	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaagtgtgtgaaaataaaacGaccgtagtttctctgaaggt	10	5	1	2	rs141178599	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:6908765G>C	ENST00000312053.4	+	10	1141	c.1104G>C	c.(1102-1104)acG>acC	p.T368T	EMR1_ENST00000250572.8_Silent_p.T368T|EMR1_ENST00000381404.4_Silent_p.T316T|EMR1_ENST00000381407.5_Silent_p.T227T|EMR1_ENST00000450315.3_Silent_p.T191T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	368	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AAAATAAAACGACCGTAGTTT	0.383																																																	0													118	124	122					19																	6908765		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1104G>C	19.37:g.6908765G>C			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.T368	ENST00000312053.4	37	c.1104	CCDS12175.1	19																																																																																			EMR1	-	NULL		0.383	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	G			6908765	1	no_errors	ENST00000312053	ensembl	human	known	70_37	silent	SNP	0.000	C	C	6908765	G	C	6908765	2	2	58	1	0	0	0	0	0	0	0	1	5116	1045	37	1		1	EMR1	19	6908765	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2396905	6908765	52220218	1170	8920										
XAB2	56949	genome.wustl.edu	37	chr19	7689278	7689278	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tagctgtcaaacacctgtgtGaagtcccgcacggtcatcac	9	13	3	1	rs368906159		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:7689278G>A	ENST00000358368.4	-	7	913	c.876C>T	c.(874-876)ttC>ttT	p.F292F	XAB2_ENST00000534844.1_Silent_p.F289F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	292					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F289F(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACACCTGTGTGAAGTCCCGCA	0.642								Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - coding silent(1)	cervix(1)											143	113	123					19																	7689278		2203	4300	6503	SO:0001819	synonymous_variant	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.876C>T	19.37:g.7689278G>A			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F292	ENST00000358368.4	37	c.876	CCDS32892.1	19																																																																																			XAB2	-	smart_HAT		0.642	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	G	NM_020196		7689278	-1	no_errors	ENST00000358368	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7689278	G	A	7689278	2	1	58	1	0	0	0	0	0	0	0	1	17449	1281	45	1		1	XAB2	19	7689278	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	780513	7689278	51439705	1171	8921										
XAB2	56949	genome.wustl.edu	37	chr19	7693181	7693181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcataggggaggtcctcttCctcctgccagggccagggaa	13	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:7693181C>T	ENST00000358368.4	-	2	92	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Missense_Mutation_p.E16K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	19					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E16K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGGTCCTCTTCCTCCTGCCAG	0.582								Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	cervix(1)											80	67	71					19																	7693181		2203	4300	6503	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.55G>A	19.37:g.7693181C>T	ENSP00000351137:p.Glu19Lys		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E19K	ENST00000358368.4	37	c.55	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732878	0.89482	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.22945	1.93;1.94	4.74	4.74	0.60224	.	0.128391	0.50627	D	0.000104	T	0.42877	0.1222	M	0.87758	2.905	0.49798	D	0.999829	P	0.34662	0.462	B	0.40825	0.341	T	0.48790	-0.9004	10	0.44086	T	0.13	-14.2448	16.514	0.84294	0.0:1.0:0.0:0.0	.	19	Q9HCS7	SYF1_HUMAN	K	19;16	ENSP00000351137:E19K;ENSP00000438225:E16K	ENSP00000351137:E19K	E	-	1	0	XAB2	7599181	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.330000	0.79181	2.196000	0.70406	0.561000	0.74099	GAA	XAB2	-	NULL		0.582	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	C	NM_020196		7693181	-1	no_errors	ENST00000358368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7693181	C	T	7693181	3	4	58	1	0	0	0	0	1	0	0	0	17449	864	30	1	2584	1	XAB2	19	7693181	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3903	7693181	51435802	1172	8922										
CLEC4G	339390	genome.wustl.edu	37	chr19	7795304	7795304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acgtcctcacggcccctgccGgcttcagccaagccctgggt	11	18	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:7795304G>A	ENST00000328853.5	-	6	479	c.411C>T	c.(409-411)gcC>gcT	p.A137A	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	137						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A137A(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GGCCCCTGCCGGCTTCAGCCA	0.682																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												1	Substitution - coding silent(1)	cervix(1)											24	29	27					19																	7795304		2194	4283	6477	SO:0001819	synonymous_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.411C>T	19.37:g.7795304G>A				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.A137	ENST00000328853.5	37	c.411	CCDS12185.1	19																																																																																			CLEC4G	-	NULL		0.682	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1	G	NM_198492		7795304	-1	no_errors	ENST00000328853	ensembl	human	known	70_37	silent	SNP	0.000	A	A	7795304	G	A	7795304	2	1	58	1	0	0	0	0	0	0	0	1	3522	1103	39	2		2	CLEC4G	19	7795304	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	102123	7795304	51333679	1173	8923										
CD320	51293	genome.wustl.edu	37	chr19	8373047	8373047	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actcacctgcggcctgggcaGaggtcggggtggaaagcggg	19	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:8373047G>A	ENST00000301458.5	-	1	192	c.128C>T	c.(127-129)tCt>tTt	p.S43F	CD320_ENST00000537716.2_Missense_Mutation_p.S43F|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	43					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S43F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGCCTGGGCAGAGGTCGGGGT	0.751																																																	1	Substitution - Missense(1)	cervix(1)											4	6	5					19																	8373047		1955	3942	5897	SO:0001583	missense	51293			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.128C>T	19.37:g.8373047G>A	ENSP00000301458:p.Ser43Phe		B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.S43F	ENST00000301458.5	37	c.128	CCDS12198.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031503	0.35797	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96685	-3.14;-4.09	4.31	-8.62	0.00881	.	2.116220	0.02709	N	0.112679	D	0.90188	0.6933	N	0.19112	0.55	0.09310	N	1	B;B	0.24823	0.112;0.035	B;B	0.14023	0.01;0.004	T	0.83025	-0.0165	10	0.54805	T	0.06	3.6966	8.3784	0.32457	0.5444:0.3134:0.1421:0.0	.	43;43	F5H6D3;Q9NPF0	.;CD320_HUMAN	F	43	ENSP00000301458:S43F;ENSP00000437697:S43F	ENSP00000301458:S43F	S	-	2	0	CD320	8279047	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-2.024000	0.01436	-2.135000	0.00811	0.462000	0.41574	TCT	CD320	-	NULL		0.751	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD320	HGNC	protein_coding	OTTHUMT00000461366.1	G	NM_016579		8373047	-1	no_errors	ENST00000301458	ensembl	human	known	70_37	missense	SNP	0.000	A	A	8373047	G	A	8373047	3	1	58	1	0	0	0	0	1	0	0	0	3009	942	33	1	740	1	CD320	19	8373047	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	577743	8373047	50755936	1174	8924										
MUC16	94025	genome.wustl.edu	37	chr19	9014193	9014193	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtgttgggcgcagaggtctGatgggtgaaacctgcgtaga	18	6	1	4	rs386806628		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:9014193G>C	ENST00000397910.4	-	32	38658	c.38455C>G	c.(38455-38457)Cag>Gag	p.Q12819E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12821				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q12819E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGAGGTCTGATGGGTGAAA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											137	125	129					19																	9014193		1976	4169	6145	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38455C>G	19.37:g.9014193G>C	ENSP00000381008:p.Gln12819Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q12819E	ENST00000397910.4	37	c.38455	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	0.251	-1.006153	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.27890	1.64	1.27	-2.54	0.06307	.	.	.	.	.	T	0.21387	0.0515	L	0.46157	1.445	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.27088	-1.0084	8	0.87932	D	0	.	2.4941	0.04617	0.194:0.0:0.3171:0.4889	.	12819	B5ME49	.	E	12819	ENSP00000381008:Q12819E	ENSP00000381008:Q12819E	Q	-	1	0	MUC16	8875193	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.172000	0.03112	-0.983000	0.03511	-0.901000	0.02856	CAG	MUC16	-	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9014193	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9014193	G	C	9014193	3	2	58	1	0	0	0	0	1	0	0	0	9996	1299	45	1	5280	1	MUC16	19	9014193	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	641146	9014193	50114790	1175	8925										
OLFM2	93145	genome.wustl.edu	37	chr19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttggccgagagggacccatCagctgcccggagccgcgcat	14	15	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577																																																	3	Substitution - Missense(3)	lung(2)|cervix(1)											41	45	44					19																	9968420		2203	4300	6503	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.331G>A	19.37:g.9968420C>T	ENSP00000264833:p.Asp111Asn		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.D111N	ENST00000264833.4	37	c.331	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332722	0.41297	.	.	ENSG00000105088	ENST00000264833	T	0.42513	0.97	3.92	3.92	0.45320	.	0.203919	0.42053	D	0.000777	T	0.23965	0.0580	N	0.08118	0	0.34418	D	0.697125	B	0.30179	0.271	B	0.33121	0.158	T	0.32161	-0.9917	9	.	.	.	.	13.4794	0.61326	0.0:1.0:0.0:0.0	.	111	O95897	NOE2_HUMAN	N	111	ENSP00000264833:D111N	.	D	-	1	0	OLFM2	9829420	0.004000	0.15560	0.986000	0.45419	0.695000	0.40330	0.919000	0.28692	2.025000	0.59659	0.313000	0.20887	GAT	OLFM2	-	pfam_Noelin-1		0.577	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	C			9968420	-1	no_errors	ENST00000264833	ensembl	human	known	70_37	missense	SNP	0.995	T	T	9968420	C	T	9968420	3	4	58	1	0	0	0	0	1	0	0	0	10877	826	29	1	1049	1	OLFM2	19	9968420	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	954227	9968420	49160563	1176	8926										
RAB3D	9545	genome.wustl.edu	37	chr19	11446153	11446153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcgagcctccggccatcctCagcaggcacaacacgttcgt	11	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:11446153C>T	ENST00000222120.3	-	4	702	c.442G>A	c.(442-444)Gag>Aag	p.E148K	RAB3D_ENST00000589655.1_Missense_Mutation_p.E148K	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	148					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E148K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CGGCCATCCTCAGCAGGCACA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											82	66	72					19																	11446153		2203	4300	6503	SO:0001583	missense	9545			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.442G>A	19.37:g.11446153C>T	ENSP00000222120:p.Glu148Lys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E148K	ENST00000222120.3	37	c.442	CCDS12257.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.079676	0.94050	.	.	ENSG00000105514	ENST00000222120	T	0.78126	-1.15	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	L	0.54965	1.715	0.80722	D	1	P	0.35208	0.49	P	0.50970	0.655	D	0.84339	0.0526	10	0.62326	D	0.03	.	16.747	0.85475	0.0:1.0:0.0:0.0	.	148	O95716	RAB3D_HUMAN	K	148	ENSP00000222120:E148K	ENSP00000222120:E148K	E	-	1	0	RAB3D	11307153	1.000000	0.71417	0.952000	0.39060	0.688000	0.40055	7.535000	0.82014	2.575000	0.86900	0.448000	0.29417	GAG	RAB3D	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.612	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3D	HGNC	protein_coding	OTTHUMT00000453211.1	C	NM_004283		11446153	-1	no_errors	ENST00000222120	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11446153	C	T	11446153	3	4	58	1	0	0	0	0	1	0	0	0	12964	835	29	1	225	1	RAB3D	19	11446153	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1477733	11446153	47682830	1177	8927										
C19orf39	126074	genome.wustl.edu	37	chr19	11486627	11486627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atggagaaatgatgatcgctCcgtggcccacccaggctggt	13	11	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:11486627C>T	ENST00000312423.2	+	2	684	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	209					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)	p.P209S(1)									GATGATCGCTCCGTGGCCCAC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											19	22	21					19																	11486627		2198	4290	6488	SO:0001583	missense	126074			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.625C>T	19.37:g.11486627C>T	ENSP00000310008:p.Pro209Ser		Q8NAM1	Missense_Mutation	SNP	NULL	p.P209S	ENST00000312423.2	37	c.625	CCDS12259.1	19	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136397	0.37728	.	.	ENSG00000173928	ENST00000312423	T	0.39592	1.07	5.43	0.936	0.19488	.	1.225170	0.05750	N	0.602880	T	0.30324	0.0761	L	0.29908	0.895	0.09310	N	1	B	0.18013	0.025	B	0.14578	0.011	T	0.30707	-0.9969	10	0.59425	D	0.04	-6.1463	4.4909	0.11813	0.1572:0.5919:0.0:0.2509	.	209	Q6NVH7	CS039_HUMAN	S	209	ENSP00000310008:P209S	ENSP00000310008:P209S	P	+	1	0	C19orf39	11347627	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.216000	0.17585	0.263000	0.21812	0.655000	0.94253	CCG	SWSAP1	-	NULL		0.622	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWSAP1	HGNC	protein_coding	OTTHUMT00000458789.1	C	NM_175871		11486627	1	no_errors	ENST00000312423	ensembl	human	known	70_37	missense	SNP	0.012	T	T	11486627	C	T	11486627	3	4	58	1	0	0	0	0	1	0	0	0	1927	855	30	1	631	1	C19orf39	19	11486627	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	40474	11486627	47642356	1178	8928										
ZNF878	729747	genome.wustl.edu	37	chr19	12155223	12155223	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtttctctccagtgtgagtCttttcatgatagcgaaagga	11	7	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:12155223C>T	ENST00000547628.1	-	4	1130	c.993G>A	c.(991-993)aaG>aaA	p.K331K	CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Silent_p.K378K|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K331K(2)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CAGTGTGAGTCTTTTCATGAT	0.393																																																	2	Substitution - coding silent(2)	cervix(2)											70	77	75					19																	12155223		2174	4281	6455	SO:0001819	synonymous_variant	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.993G>A	19.37:g.12155223C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K378	ENST00000547628.1	37	c.1134	CCDS45984.2	19																																																																																			ZNF878	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	C	NM_001080404		12155223	-1	no_errors	ENST00000602107	ensembl	human	known	70_37	silent	SNP	0.020	T	T	12155223	C	T	12155223	2	4	58	1	0	0	0	0	0	0	0	1	18226	912	32	1		1	ZNF878	19	12155223	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	668596	12155223	46973760	1179	8929										
FBXW9	84261	genome.wustl.edu	37	chr19	12800031	12800031	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacatccacgcccacctgctCaggcctgcagcctccagacc	7	21	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:12800031C>T	ENST00000380339.3	-	10	1502	c.1466G>A	c.(1465-1467)tGa>tAa	p.*489*	FBXW9_ENST00000587955.1_Silent_p.*479*|FBXW9_ENST00000393261.3_Silent_p.*459*|CTD-2659N19.2_ENST00000585742.1_RNA|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Silent_p.*197*			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	0					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.*459*(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCACCTGCTCAGGCCTGCAG	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											48	48	48					19																	12800031		2203	4300	6503	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1466G>A	19.37:g.12800031C>T			B3KVP7|Q9BT89	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.*489	ENST00000380339.3	37	c.1466		19																																																																																			FBXW9	-	NULL		0.647	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		C	NM_032301		12800031	-1	no_errors	ENST00000380339	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12800031	C	T	12800031	2	4	58	1	0	0	0	0	0	0	0	1	5789	837	29	1		1	FBXW9	19	12800031	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	644808	12800031	46328952	1180	8930										
LPHN1	22859	genome.wustl.edu	37	chr19	14271452	14271452	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaggtgcagttgctgaggtCagggccccgggggttccaga	19	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:14271452C>T	ENST00000340736.6	-	8	1879	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D523N|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'Flank	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	528					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D528N(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGCTGAGGTCAGGGCCCCGG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											32	34	34					19																	14271452		2201	4299	6500	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1582G>A	19.37:g.14271452C>T	ENSP00000340688:p.Asp528Asn		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D528N	ENST00000340736.6	37	c.1582	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.146867	0.94603	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.61859	0.07;0.07	5.08	5.08	0.68730	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	L	0.55834	1.745	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.78314	0.991;0.934	T	0.74642	-0.3597	10	0.87932	D	0	.	16.3041	0.82841	0.0:1.0:0.0:0.0	.	523;528	O94910-2;O94910	.;LPHN1_HUMAN	N	528;523	ENSP00000340688:D528N;ENSP00000355328:D523N	ENSP00000340688:D528N	D	-	1	0	LPHN1	14132452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.523000	0.85059	0.491000	0.48974	GAC	LPHN1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.647	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14271452	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14271452	C	T	14271452	3	4	58	1	0	0	0	0	1	0	0	0	8938	826	29	1	2910	1	LPHN1	19	14271452	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1471421	14271452	44857531	1181	8931										
DNAJB1	3337	genome.wustl.edu	37	chr19	14629110	14629110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtaggcccgcttgatctcctCgtccgacgcgccgcgggcca	13	17	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:14629110C>T	ENST00000254322.2	-	1	122	c.52G>A	c.(52-54)Gag>Aag	p.E18K	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	18	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.E18K(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGATCTCCTCGTCCGACGCG	0.701																																																	1	Substitution - Missense(1)	cervix(1)											36	30	32					19																	14629110		2200	4297	6497	SO:0001583	missense	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.52G>A	19.37:g.14629110C>T	ENSP00000254322:p.Glu18Lys		B4DX52	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E18K	ENST00000254322.2	37	c.52	CCDS12312.1	19	.	.	.	.	.	.	.	.	.	.	N	37	5.995232	0.97184	.	.	ENSG00000132002	ENST00000254322	T	0.30981	1.51	5.15	5.15	0.70609	Heat shock protein DnaJ, N-terminal (5);	0.177232	0.47455	D	0.000225	T	0.24774	0.0601	N	0.25825	0.765	0.80722	D	1	P	0.34662	0.462	B	0.33254	0.16	T	0.07501	-1.0769	10	0.59425	D	0.04	.	16.1618	0.81727	0.0:1.0:0.0:0.0	.	18	P25685	DNJB1_HUMAN	K	18	ENSP00000254322:E18K	ENSP00000254322:E18K	E	-	1	0	DNAJB1	14490110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.423000	0.82170	0.478000	0.44815	GAG	DNAJB1	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.701	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1	C	NM_006145		14629110	-1	no_errors	ENST00000254322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14629110	C	T	14629110	3	4	58	1	0	0	0	0	1	0	0	0	4625	893	31	1	982	1	DNAJB1	19	14629110	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	357658	14629110	44499873	1182	8932										
AKAP8	10270	genome.wustl.edu	37	chr19	15465808	15465808	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagctggggcaggagcaactCtggtttgggcactttctgcc	14	11	2	0	rs369631726		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15465808C>G	ENST00000269701.2	-	14	2057	c.1997G>C	c.(1996-1998)aGa>aCa	p.R666T		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	666					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R666T(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGAGCAACTCTGGTTTGGGC	0.567																																					GBM(190;1671 2163 3274 27186 30476)												1	Substitution - Missense(1)	cervix(1)											90	81	84					19																	15465808		2203	4300	6503	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1997G>C	19.37:g.15465808C>G	ENSP00000269701:p.Arg666Thr			Missense_Mutation	SNP	pfam_AKAP95	p.R666T	ENST00000269701.2	37	c.1997	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109409	0.06924	.	.	ENSG00000105127	ENST00000269701	T	0.41758	0.99	5.1	-10.2	0.00374	.	13.524300	0.00644	N	0.000535	T	0.20007	0.0481	N	0.14661	0.345	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.09015	-1.0694	10	0.18710	T	0.47	-0.1982	5.7388	0.18081	0.1448:0.4015:0.3646:0.0891	.	666	O43823	AKAP8_HUMAN	T	666	ENSP00000269701:R666T	ENSP00000269701:R666T	R	-	2	0	AKAP8	15326808	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.639000	0.00865	-2.794000	0.00355	-0.867000	0.03001	AGA	AKAP8	-	NULL		0.567	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	C	NM_005858		15465808	-1	no_errors	ENST00000269701	ensembl	human	known	70_37	missense	SNP	0.000	G	G	15465808	C	G	15465808	3	3	58	1	0	0	0	0	1	0	0	0	457	913	32	1	85	1	AKAP8	19	15465808	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	836698	15465808	43663175	1183	8933										
OR10H3	26532	genome.wustl.edu	37	chr19	15852820	15852820	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtgtgatgctggtgtgtgtCacagccctgataggctgttt	15	7	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15852820C>T	ENST00000305892.1	+	1	618	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V206V(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTGTGTGTCACAGCCCTGA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											334	293	307					19																	15852820		2203	4300	6503	SO:0001819	synonymous_variant	26532				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.618C>T	19.37:g.15852820C>T			Q2HIZ3|Q6IFQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V206	ENST00000305892.1	37	c.618	CCDS12334.1	19																																																																																			OR10H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	C			15852820	1	no_errors	ENST00000305892	ensembl	human	known	70_37	silent	SNP	0.007	T	T	15852820	C	T	15852820	2	4	58	1	0	0	0	0	0	0	0	1	10931	813	29	1		1	OR10H3	19	15852820	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	387012	15852820	43276163	1184	8934										
OR10H3	26532	genome.wustl.edu	37	chr19	15853003	15853003	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacctcaaacccaagggcctCcattctatgtacagtgatgc	7	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15853003C>A	ENST00000305892.1	+	1	801	c.801C>A	c.(799-801)ctC>ctA	p.L267L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L267L(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCAAGGGCCTCCATTCTATGT	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											178	152	161					19																	15853003		2203	4300	6503	SO:0001819	synonymous_variant	26532				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.801C>A	19.37:g.15853003C>A			Q2HIZ3|Q6IFQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L267	ENST00000305892.1	37	c.801	CCDS12334.1	19																																																																																			OR10H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	C			15853003	1	no_errors	ENST00000305892	ensembl	human	known	70_37	silent	SNP	0.000	A	A	15853003	C	A	15853003	2	1	58	1	0	0	0	0	0	0	0	1	10931	842	30	3		3	OR10H3	19	15853003	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	183	15853003	43275980	1185	8935										
OR10H1	26539	genome.wustl.edu	37	chr19	15918293	15918293	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcgtctccacaggccaacttCaacagaggtggcacatggca	10	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15918293C>T	ENST00000334920.2	-	1	643	c.555G>A	c.(553-555)ttG>ttA	p.L185L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L185L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGCCAACTTCAACAGAGGTG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											201	157	172					19																	15918293		2203	4300	6503	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.555G>A	19.37:g.15918293C>T			Q6IFQ2|Q96R59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L185	ENST00000334920.2	37	c.555	CCDS12335.1	19																																																																																			OR10H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.572	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	C			15918293	-1	no_errors	ENST00000334920	ensembl	human	known	70_37	silent	SNP	0.689	T	T	15918293	C	T	15918293	2	4	58	1	0	0	0	0	0	0	0	1	10929	825	29	1		1	OR10H1	19	15918293	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	65290	15918293	43210690	1186	8936										
CIB3	117286	genome.wustl.edu	37	chr19	16275611	16275611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atggtctccatcagcctcatCcagcaccttctcacatacca	4	17	4	0	rs572224060		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:16275611C>G	ENST00000269878.4	-	5	509	c.460G>C	c.(460-462)Gat>Cat	p.D154H	CIB3_ENST00000379859.3_Missense_Mutation_p.D105H|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	154	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D154H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCAGCCTCATCCAGCACCTTC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											141	122	128					19																	16275611		2203	4300	6503	SO:0001583	missense	117286			AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"EF-hand domain containing"	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.460G>C	19.37:g.16275611C>G	ENSP00000269878:p.Asp154His		E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.D154H	ENST00000269878.4	37	c.460	CCDS12340.1	19	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973614	0.53720	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.71341	-0.56;-0.56	4.78	3.72	0.42706	EF-hand-like domain (1);	0.147813	0.64402	D	0.000019	T	0.74084	0.3670	L	0.56396	1.775	0.80722	D	1	P;P	0.41498	0.752;0.752	P;P	0.52710	0.707;0.615	T	0.75147	-0.3420	10	0.59425	D	0.04	-18.1479	8.6416	0.33981	0.1642:0.7479:0.0:0.0879	.	105;154	E7EUX1;Q96Q77	.;CIB3_HUMAN	H	154;105	ENSP00000269878:D154H;ENSP00000369188:D105H	ENSP00000269878:D154H	D	-	1	0	CIB3	16136611	1.000000	0.71417	0.985000	0.45067	0.339000	0.28857	4.752000	0.62176	2.385000	0.81259	0.462000	0.41574	GAT	CIB3	-	pfscan_EF_HAND_2		0.597	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB3	HGNC	protein_coding	OTTHUMT00000460351.1	C	NM_054113		16275611	-1	no_errors	ENST00000269878	ensembl	human	known	70_37	missense	SNP	0.997	G	G	16275611	C	G	16275611	3	3	58	1	0	0	0	0	1	0	0	0	3427	855	30	1	111	1	CIB3	19	16275611	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	357318	16275611	42853372	1187	8937										
NWD1	284434	genome.wustl.edu	37	chr19	16926106	16926106	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagggaaatgaaaccaaatCaaacaaatgctcacaagtgt	7	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:16926106C>G	ENST00000552788.1	+	18	4661	c.4661C>G	c.(4660-4662)tCa>tGa	p.S1554*	NWD1_ENST00000523826.1_Nonsense_Mutation_p.S1348*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.S1512*|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Nonsense_Mutation_p.S1419*|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1554							ATP binding (GO:0005524)	p.S1419*(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAAACCAAATCAAACAAATGC	0.458																																																	1	Substitution - Nonsense(1)	cervix(1)											35	30	32					19																	16926106		2203	4300	6503	SO:0001587	stop_gained	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4661C>G	19.37:g.16926106C>G	ENSP00000447224:p.Ser1554*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1419*	ENST00000552788.1	37	c.4256		19	.	.	.	.	.	.	.	.	.	.	C	38	6.925478	0.97940	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.86	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.30525	N	0.768045	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	1.4896	0.02454	0.1744:0.4654:0.1694:0.1908	.	.	.	.	X	1419;1512;1348;1554;1419	.	ENSP00000340159:S1419X	S	+	2	0	NWD1	16787106	0.006000	0.16342	0.006000	0.13384	0.007000	0.05969	0.128000	0.15810	0.521000	0.28445	-0.145000	0.13849	TCA	NWD1	-	NULL		0.458	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	C	NM_001007525		16926106	1	no_errors	ENST00000339803	ensembl	human	known	70_37	nonsense	SNP	0.040	G	G	16926106	C	G	16926106	4	3	58	1	0	0	0	0	0	1	0	0	10805	838	29	1	4318	1	NWD1	19	16926106	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	650495	16926106	42202877	1188	8938										
PLVAP	83483	genome.wustl.edu	37	chr19	17476175	17476175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctccgcctccctcttcttctCttccagctccttggccaggt	6	19	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:17476175C>G	ENST00000252590.4	-	3	1160	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	367					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E367Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTTCTTCTCTTCCAGCTCC	0.617																																																	1	Substitution - Missense(1)	cervix(1)											102	90	94					19																	17476175		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1099G>C	19.37:g.17476175C>G	ENSP00000252590:p.Glu367Gln		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.E367Q	ENST00000252590.4	37	c.1099	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956748	0.18507	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	1.58	0.23477	.	0.612906	0.16340	N	0.218738	T	0.31231	0.0790	L	0.29908	0.895	0.21184	N	0.999761	P	0.37708	0.606	B	0.38985	0.287	T	0.12344	-1.0551	9	0.25106	T	0.35	-29.0029	12.8735	0.57978	0.0:0.519:0.481:0.0	.	367	Q9BX97	PLVAP_HUMAN	Q	367	.	ENSP00000252590:E367Q	E	-	1	0	PLVAP	17337175	0.762000	0.28451	0.484000	0.27391	0.195000	0.23768	0.436000	0.21526	0.529000	0.28599	0.462000	0.41574	GAG	PLVAP	-	pfam_PV-1		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	C	NM_031310		17476175	-1	no_errors	ENST00000252590	ensembl	human	known	70_37	missense	SNP	0.970	G	G	17476175	C	G	17476175	3	3	58	1	0	0	0	0	1	0	0	0	12140	922	32	1	245	1	PLVAP	19	17476175	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	550069	17476175	41652808	1189	8939										
SLC5A5	6528	genome.wustl.edu	37	chr19	18001725	18001725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgcagcaccctggccccggGattgttgtggtgggacctcg	16	13	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18001725G>A	ENST00000222248.3	+	14	2029	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	561					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.G561E(2)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGCCCCGGGATTGTTGTGG	0.602																																					Melanoma(65;1008 1708 7910 46650)												2	Substitution - Missense(2)	cervix(1)|biliary_tract(1)											105	107	107					19																	18001725		2203	4300	6503	SO:0001583	missense	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1682G>A	19.37:g.18001725G>A	ENSP00000222248:p.Gly561Glu		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G561E	ENST00000222248.3	37	c.1682	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180624	0.38511	.	.	ENSG00000105641	ENST00000222248	D	0.84660	-1.88	4.71	4.71	0.59529	.	0.108730	0.64402	D	0.000010	T	0.78375	0.4273	L	0.49640	1.575	0.51482	D	0.999922	B	0.33345	0.409	B	0.30646	0.118	T	0.74780	-0.3549	10	0.06365	T	0.9	.	15.1801	0.72947	0.0:0.0:1.0:0.0	.	561	Q92911	SC5A5_HUMAN	E	561	ENSP00000222248:G561E	ENSP00000222248:G561E	G	+	2	0	SLC5A5	17862725	1.000000	0.71417	0.649000	0.29536	0.210000	0.24377	5.732000	0.68563	2.457000	0.83068	0.491000	0.48974	GGA	SLC5A5	-	NULL		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	G			18001725	1	no_errors	ENST00000222248	ensembl	human	known	70_37	missense	SNP	0.978	A	A	18001725	G	A	18001725	3	1	58	1	0	0	0	0	1	0	0	0	14698	1174	41	1	1736	1	SLC5A5	19	18001725	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	525550	18001725	41127258	1190	8940										
MAST3	23031	genome.wustl.edu	37	chr19	18254649	18254649	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcggggtcccagcccatctCtcctgaataccatcagcctg	9	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18254649C>G	ENST00000262811.6	+	21	2329	c.2329C>G	c.(2329-2331)Ctc>Gtc	p.L777V	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	777							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L799V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGCCCATCTCTCCTGAATAC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											38	41	40					19																	18254649		1977	4157	6134	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2329C>G	19.37:g.18254649C>G	ENSP00000262811:p.Leu777Val		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.L777V	ENST00000262811.6	37	c.2329	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217495	0.22373	.	.	ENSG00000099308	ENST00000262811	T	0.66815	-0.23	4.82	-3.82	0.04281	.	0.217762	0.39210	N	0.001428	T	0.43010	0.1228	N	0.25245	0.725	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.26408	T	0.33	-13.8773	9.2978	0.37827	0.0:0.2207:0.6009:0.1784	.	777	O60307	MAST3_HUMAN	V	777	ENSP00000262811:L777V	ENSP00000262811:L777V	L	+	1	0	MAST3	18115649	0.122000	0.22280	0.004000	0.12327	0.858000	0.48976	0.579000	0.23788	0.057000	0.16193	0.491000	0.48974	CTC	MAST3	-	NULL		0.612	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18254649	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.117	G	G	18254649	C	G	18254649	3	3	58	1	0	0	0	0	1	0	0	0	9349	913	32	1	2411	1	MAST3	19	18254649	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	252924	18254649	40874334	1191	8941										
CRTC1	23373	genome.wustl.edu	37	chr19	18879564	18879564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcccccagtcccccccagaGaaccctggccagccatcgat	7	21	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18879564G>C	ENST00000321949.8	+	10	1307	c.1281G>C	c.(1279-1281)gaG>gaC	p.E427D	CRTC1_ENST00000594658.1_Missense_Mutation_p.E386D|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Missense_Mutation_p.E443D	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.E443D(1)|p.E427D(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCCCCAGAGAACCCTGGCC	0.701																																																	2	Substitution - Missense(2)	cervix(2)											17	17	17					19																	18879564		2197	4294	6491	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1281G>C	19.37:g.18879564G>C	ENSP00000323332:p.Glu427Asp			Missense_Mutation	SNP	NULL	p.E443D	ENST00000321949.8	37	c.1329	CCDS32963.1	19	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280969	0.23392	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.17370	2.28;2.28	4.04	-3.61	0.04556	.	1.118960	0.06600	N	0.753588	T	0.07638	0.0192	N	0.08118	0	0.30207	N	0.798055	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46610	-0.9179	10	0.12766	T	0.61	-7.2866	10.3906	0.44166	0.1574:0.6701:0.1725:0.0	.	427;443;427	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	D	427;443;427	ENSP00000345001:E443D;ENSP00000323332:E427D	ENSP00000262813:E427D	E	+	3	2	CRTC1	18740564	0.772000	0.28567	0.904000	0.35570	0.960000	0.62799	-0.040000	0.12104	-0.060000	0.13132	0.491000	0.48974	GAG	CRTC1	-	NULL		0.701	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	G	NM_025021		18879564	1	no_errors	ENST00000338797	ensembl	human	known	70_37	missense	SNP	0.968	C	C	18879564	G	C	18879564	3	2	58	1	0	0	0	0	1	0	0	0	3904	933	33	1	1371	1	CRTC1	19	18879564	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	624915	18879564	40249419	1192	8942										
COMP	1311	genome.wustl.edu	37	chr19	18896802	18896802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcctcctggccggggttagGcaccaggcggcagttgtccc	15	14	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18896802G>A	ENST00000222271.2	-	13	1506	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	COMP_ENST00000425807.1_Missense_Mutation_p.P435S|COMP_ENST00000542601.2_Missense_Mutation_p.P455S	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	488					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P488S(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCGGGGTTAGGCACCAGGCGG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											37	30	32					19																	18896802		2203	4300	6503	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1462C>T	19.37:g.18896802G>A	ENSP00000222271:p.Pro488Ser		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P488S	ENST00000222271.2	37	c.1462	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050067	0.36181	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98381	-4.9;-4.9;-4.9	4.05	1.77	0.24775	.	0.072118	0.56097	N	0.000023	D	0.97542	0.9195	L	0.58302	1.8	0.53688	D	0.999972	B;D	0.65815	0.07;0.995	B;P	0.60286	0.068;0.872	D	0.94911	0.8065	10	0.30078	T	0.28	-11.1032	7.4569	0.27272	0.0976:0.1691:0.7333:0.0	.	435;488	B4DKJ3;P49747	.;COMP_HUMAN	S	455;488;435;475	ENSP00000439156:P455S;ENSP00000222271:P488S;ENSP00000403792:P435S	ENSP00000222271:P488S	P	-	1	0	COMP	18757802	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	3.137000	0.50562	0.169000	0.19679	-0.339000	0.08088	CCT	COMP	-	NULL		0.721	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	G	NM_000095		18896802	-1	no_errors	ENST00000222271	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18896802	G	A	18896802	3	1	58	1	0	0	0	0	1	0	0	0	3729	1203	42	4	839	4	COMP	19	18896802	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	17238	18896802	40232181	1193	8943										
SLC25A42	284439	genome.wustl.edu	37	chr19	19221592	19221592	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcggcctctacaaaggcttGagcatgaactgggtcaaggg	14	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:19221592G>C	ENST00000318596.7	+	8	1015	c.864G>C	c.(862-864)ttG>ttC	p.L288F		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	288					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)	p.L288F(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACAAAGGCTTGAGCATGAACT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											52	41	45					19																	19221592		2203	4300	6503	SO:0001583	missense	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.864G>C	19.37:g.19221592G>C	ENSP00000326693:p.Leu288Phe		D2T2J5|O14553|O43378	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L288F	ENST00000318596.7	37	c.864	CCDS32966.1	19	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798887	0.70567	.	.	ENSG00000181035	ENST00000318596	T	0.79845	-1.31	4.92	2.73	0.32206	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84274	0.0490	10	0.87932	D	0	-10.5379	4.2996	0.10918	0.084:0.2834:0.4871:0.1455	.	288	Q86VD7	S2542_HUMAN	F	288	ENSP00000326693:L288F	ENSP00000326693:L288F	L	+	3	2	SLC25A42	19082592	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.867000	0.27968	1.058000	0.40530	0.555000	0.69702	TTG	SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.682	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	G	NM_178526		19221592	1	no_errors	ENST00000318596	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19221592	G	C	19221592	3	2	58	1	0	0	0	0	1	0	0	0	14537	1281	45	1	890	1	SLC25A42	19	19221592	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	324790	19221592	39907391	1194	8944										
ATP13A1	57130	genome.wustl.edu	37	chr19	19758021	19758021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcactgaacttgactccctCcaggtagaggacgctctggc	11	13	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:19758021C>T	ENST00000357324.6	-	22	3048	c.3022G>A	c.(3022-3024)Gag>Aag	p.E1008K	ATP13A1_ENST00000291503.5_Missense_Mutation_p.E890K	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1008						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E1008K(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTGACTCCCTCCAGGTAGAGG	0.622																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												1	Substitution - Missense(1)	cervix(1)											85	94	91					19																	19758021		2203	4300	6503	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3022G>A	19.37:g.19758021C>T	ENSP00000349877:p.Glu1008Lys		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E1008K	ENST00000357324.6	37	c.3022	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154016	0.57259	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.30182	1.54;1.54	4.75	3.72	0.42706	.	0.050537	0.85682	D	0.000000	T	0.20901	0.0503	L	0.33245	0.995	0.58432	D	0.999998	B;B	0.12013	0.005;0.001	B;B	0.14578	0.011;0.003	T	0.04825	-1.0924	10	0.14252	T	0.57	-21.7138	10.7477	0.46189	0.0:0.9063:0.0:0.0937	.	1008;890	Q9HD20;Q9HD20-2	AT131_HUMAN;.	K	890;1008	ENSP00000291503:E890K;ENSP00000349877:E1008K	ENSP00000291503:E890K	E	-	1	0	ATP13A1	19619021	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	5.679000	0.68160	1.015000	0.39444	-0.142000	0.14014	GAG	ATP13A1	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.622	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	C	NM_020410		19758021	-1	no_errors	ENST00000357324	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19758021	C	T	19758021	3	4	58	1	0	0	0	0	1	0	0	0	1124	864	30	1	612	1	ATP13A1	19	19758021	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	536429	19758021	39370962	1195	8945										
ZNF626	199777	genome.wustl.edu	37	chr19	20808319	20808319	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttctttgtgcaccttacactCatccacacttatacatcctt	2	14	2	0	rs376982092		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:20808319C>G	ENST00000601440.1	-	4	510	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	122					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.E122Q(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACCTTACACTCATCCACACTT	0.328																																																	1	Substitution - Missense(1)	cervix(1)											99	103	102					19																	20808319		2170	4283	6453	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.364G>C	19.37:g.20808319C>G	ENSP00000469958:p.Glu122Gln		Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E122Q	ENST00000601440.1	37	c.364	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	11.19	1.567126	0.28003	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	.	.	.	.	.	T	0.55162	0.1903	M	0.93638	3.44	0.09310	N	0.999997	P	0.35077	0.483	B	0.38921	0.285	T	0.56232	-0.8013	8	0.54805	T	0.06	.	5.0948	0.14727	0.3314:0.6686:0.0:0.0	.	122	Q68DY1	ZN626_HUMAN	Q	122;46;122	.	ENSP00000445201:E122Q	E	-	1	0	ZNF626	20600159	0.002000	0.14202	0.088000	0.20740	0.088000	0.18126	-0.357000	0.07651	0.284000	0.22305	0.289000	0.19496	GAG	ZNF626	-	NULL		0.328	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	C	NM_145297		20808319	-1	no_errors	ENST00000601440	ensembl	human	known	70_37	missense	SNP	0.124	G	G	20808319	C	G	20808319	3	3	58	1	0	0	0	0	1	0	0	0	18080	835	29	1	1226	1	ZNF626	19	20808319	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1050298	20808319	38320664	1196	8946										
ZNF91	7644	genome.wustl.edu	37	chr19	23543184	23543184	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatgtgtcgtaagatttgaaGattgattaaaagctttgcca	9	4	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:23543184G>A	ENST00000300619.7	-	4	2802	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S834F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	866					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S866F(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAGATTTGAAGATTGATTAAA	0.358																																																	1	Substitution - Missense(1)	cervix(1)											70	76	74					19																	23543184		2134	4280	6414	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2597C>T	19.37:g.23543184G>A	ENSP00000300619:p.Ser866Phe		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S866F	ENST00000300619.7	37	c.2597	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	5.200	0.222519	0.09863	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.54071	0.59;0.59	1.41	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32704	0.0838	M	0.69185	2.1	0.09310	N	1	B;P	0.40066	0.073;0.701	B;B	0.29267	0.023;0.1	T	0.38045	-0.9679	9	0.09590	T	0.72	.	0.956	0.01385	0.1477:0.3197:0.2121:0.3205	.	834;866	Q05481-2;Q05481	.;ZNF91_HUMAN	F	866;834	ENSP00000300619:S866F;ENSP00000380272:S834F	ENSP00000300619:S866F	S	-	2	0	ZNF91	23335024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.555000	0.05999	-1.357000	0.02180	-0.802000	0.03209	TCT	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23543184	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.000	A	A	23543184	G	A	23543184	3	1	58	1	0	0	0	0	1	0	0	0	18230	942	33	1	982	1	ZNF91	19	23543184	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2734865	23543184	35585799	1197	8947										
CCDC123	84902	genome.wustl.edu	37	chr19	33444634	33444634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagctgagtttcaatgtcctCttcgtccccatagtccagtg	8	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:33444634C>G	ENST00000305768.5	-	4	467	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CEP89_ENST00000590597.2_Missense_Mutation_p.E127Q	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	127					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E127Q(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCAATGTCCTCTTCGTCCCCA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											168	137	147					19																	33444634		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.379G>C	19.37:g.33444634C>G	ENSP00000306105:p.Glu127Gln		B9EGA6|Q8N5J8	Missense_Mutation	SNP	NULL	p.E127Q	ENST00000305768.5	37	c.379	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789893	0.50102	.	.	ENSG00000121289	ENST00000305768	T	0.33438	1.41	4.99	4.99	0.66335	.	0.464357	0.23353	N	0.049119	T	0.53302	0.1788	M	0.74258	2.255	0.40880	D	0.983989	D;P;P	0.76494	0.999;0.745;0.903	D;B;P	0.64776	0.929;0.354;0.585	T	0.58763	-0.7579	10	0.72032	D	0.01	-9.0807	14.1064	0.65093	0.0:1.0:0.0:0.0	.	98;127;127	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	Q	127	ENSP00000306105:E127Q	ENSP00000306105:E127Q	E	-	1	0	CEP89	38136474	0.850000	0.29656	0.950000	0.38849	0.138000	0.21146	3.806000	0.55583	2.450000	0.82876	0.585000	0.79938	GAG	CEP89	-	NULL		0.507	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	C	NM_032816		33444634	-1	no_errors	ENST00000305768	ensembl	human	known	70_37	missense	SNP	0.994	G	G	33444634	C	G	33444634	3	3	58	1	0	0	0	0	1	0	0	0	2764	922	32	1	2036	1	CCDC123	19	33444634	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	9901450	33444634	25684349	1198	8948										
CEBPA	1050	genome.wustl.edu	37	chr19	33792481	33792481	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acccggtactcgttgctgttCttgtccaccgacttcttggc	9	14	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:33792481C>G	ENST00000498907.2	-	1	989	c.840G>C	c.(838-840)aaG>aaC	p.K280N	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	280					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.K280N(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CGTTGCTGTTCTTGTCCACCG	0.711			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	3	Substitution - Missense(1)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(2)|cervix(1)											32	33	33					19																	33792481		2203	4298	6501	SO:0001583	missense	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.840G>C	19.37:g.33792481C>G	ENSP00000427514:p.Lys280Asn		A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.K280N	ENST00000498907.2	37	c.840	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390889	0.82902	.	.	ENSG00000245848	ENST00000498907	T	0.46819	0.86	4.7	3.65	0.41850	Basic-leucine zipper (bZIP) transcription factor (1);	.	.	.	.	T	0.63355	0.2504	M	0.73217	2.22	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	T	0.68089	-0.5501	9	0.87932	D	0	.	12.1846	0.54231	0.0:0.9146:0.0:0.0854	.	280	P49715	CEBPA_HUMAN	N	280	ENSP00000427514:K280N	ENSP00000427514:K280N	K	-	3	2	CEBPA	38484321	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.729000	0.62008	2.133000	0.65898	0.462000	0.41574	AAG	CEBPA	-	smart_bZIP,pirsf_CCAAT/enhancer-binding		0.711	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	HGNC	protein_coding	OTTHUMT00000365012.1	C	NM_004364		33792481	-1	no_errors	ENST00000498907	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33792481	C	G	33792481	3	3	58	1	0	0	0	0	1	0	0	0	3204	912	32	1	240	1	CEBPA	19	33792481	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	347847	33792481	25336502	1199	8949										
HAUS5	23354	genome.wustl.edu	37	chr19	36104692	36104692	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgcagcatgtgcacagtcaGaggtaagctgggctagagca	14	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36104692G>C	ENST00000203166.5	+	2	184	c.159G>C	c.(157-159)caG>caC	p.Q53H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q53H|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	53					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.Q53H(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCACAGTCAGAGGTAAGCTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											65	69	68					19																	36104692		2032	4186	6218	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.159G>C	19.37:g.36104692G>C	ENSP00000439056:p.Gln53His		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.Q53H	ENST00000203166.5	37	c.159	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331499	0.60853	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.35605	1.3;1.3	4.66	2.5	0.30297	.	0.212444	0.40728	N	0.001025	T	0.33059	0.0850	M	0.68952	2.095	0.41665	D	0.9892	B	0.12630	0.006	B	0.14023	0.01	T	0.20472	-1.0274	10	0.87932	D	0	-21.2264	6.2354	0.20760	0.1013:0.188:0.7106:0.0	.	53	O94927	HAUS5_HUMAN	H	53	ENSP00000439056:Q53H;ENSP00000444373:Q53H	ENSP00000439056:Q53H	Q	+	3	2	HAUS5	40796532	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.203000	0.32284	0.548000	0.28955	-0.165000	0.13383	CAG	HAUS5	-	NULL		0.582	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	G			36104692	1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36104692	G	C	36104692	3	2	58	1	0	0	0	0	1	0	0	0	6989	933	33	1	165	1	HAUS5	19	36104692	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2312211	36104692	23024291	1200	8950										
HAUS5	23354	genome.wustl.edu	37	chr19	36104782	36104782	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactgtaggactgtcaagaaGatccggggaaacctactctg	11	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36104782G>A	ENST00000203166.5	+	3	199	c.174G>A	c.(172-174)aaG>aaA	p.K58K	HAUS5_ENST00000379045.2_Silent_p.K58K|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	58					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.K58K(1)|p.K58N(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTGTCAAGAAGATCCGGGGAA	0.542																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|breast(1)											112	125	121					19																	36104782		2131	4244	6375	SO:0001819	synonymous_variant	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.174G>A	19.37:g.36104782G>A			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.K58	ENST00000203166.5	37	c.174	CCDS42550.1	19																																																																																			HAUS5	-	NULL		0.542	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	G			36104782	1	no_errors	ENST00000203166	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36104782	G	A	36104782	2	1	58	1	0	0	0	0	0	0	0	1	6989	933	33	1		1	HAUS5	19	36104782	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	90	36104782	23024201	1201	8951										
C19orf55	148137	genome.wustl.edu	37	chr19	36258752	36258752	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgcccgcagcggggtcagtGatacggaagagcgaagccac	15	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36258752G>A	ENST00000544099.1	+	9	1068	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000396908.4_Silent_p.V335V			Q2NL68	PRSR3_HUMAN		335								p.V335V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGGTCAGTGATACGGAAGA	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											18	21	20					19																	36258752		1912	4124	6036	SO:0001819	synonymous_variant	148137																														ENST00000544099.1:c.1005G>A	19.37:g.36258752G>A			Q8NDI3|Q8WWC8|Q96NL4	Silent	SNP	NULL	p.V335	ENST00000544099.1	37	c.1005		19																																																																																			C19orf55	-	NULL		0.642	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2	G			36258752	1	no_errors	ENST00000396908	ensembl	human	known	70_37	silent	SNP	0.000	A	A	36258752	G	A	36258752	2	1	58	1	0	0	0	0	0	0	0	1	1942	1277	45	1		1	C19orf55	19	36258752	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	153970	36258752	22870231	1202	8952										
NPHS1	4868	genome.wustl.edu	37	chr19	36330458	36330458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcttccactccagccccacgGagtgtggggtcagactcaca	11	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36330458G>A	ENST00000378910.5	-	21	2866	c.2867C>T	c.(2866-2868)tCc>tTc	p.S956F	NPHS1_ENST00000353632.6_Missense_Mutation_p.S956F	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	956	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S956F(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCCCACGGAGTGTGGGGT	0.567																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|cervix(1)											65	67	66					19																	36330458		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2867C>T	19.37:g.36330458G>A	ENSP00000368190:p.Ser956Phe		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S956F	ENST00000378910.5	37	c.2867	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691310	0.48097	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.63417	-0.04;-0.04	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.86651	2.83	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.85244	0.1040	10	0.87932	D	0	-12.1393	16.4567	0.84019	0.0:0.0:1.0:0.0	.	956	O60500	NPHN_HUMAN	F	956	ENSP00000368190:S956F;ENSP00000343634:S956F	ENSP00000343634:S956F	S	-	2	0	NPHS1	41022298	1.000000	0.71417	0.224000	0.23877	0.020000	0.10135	4.282000	0.58971	2.496000	0.84212	0.585000	0.79938	TCC	NPHS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	G			36330458	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	missense	SNP	0.995	A	A	36330458	G	A	36330458	3	1	58	1	0	0	0	0	1	0	0	0	10606	1174	41	1	894	1	NPHS1	19	36330458	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	71706	36330458	22798525	1203	8953										
WDR62	284403	genome.wustl.edu	37	chr19	36595563	36595563	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaccttccaagaagccctcGacctttaccgtgtggtgagc	9	15	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36595563G>C	ENST00000270301.7	+	31	4282	c.4282G>C	c.(4282-4284)Gac>Cac	p.D1428H	WDR62_ENST00000401500.2_Missense_Mutation_p.D1433H			O43379	WDR62_HUMAN	WD repeat domain 62	1428					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.D1428H(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAAGCCCTCGACCTTTACCG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											53	52	52					19																	36595563		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.4282G>C	19.37:g.36595563G>C	ENSP00000270301:p.Asp1428His		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1433H	ENST00000270301.7	37	c.4297	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496200	0.44352	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.68479	-0.24;-0.33	4.73	2.59	0.31030	.	0.267293	0.28052	N	0.016796	T	0.68604	0.3019	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.95	T	0.64601	-0.6369	10	0.39692	T	0.17	-14.2404	7.2436	0.26109	0.2016:0.0:0.7984:0.0	.	1433;1428	O43379-4;O43379	.;WDR62_HUMAN	H	1433;1428	ENSP00000384792:D1433H;ENSP00000270301:D1428H	ENSP00000270301:D1428H	D	+	1	0	WDR62	41287403	0.985000	0.35326	0.970000	0.41538	0.675000	0.39556	0.929000	0.28844	0.714000	0.32081	0.650000	0.86243	GAC	WDR62	-	NULL		0.632	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	G	NM_015671		36595563	1	no_errors	ENST00000401500	ensembl	human	known	70_37	missense	SNP	0.962	C	C	36595563	G	C	36595563	3	2	58	1	0	0	0	0	1	0	0	0	17344	1058	37	1	4419	1	WDR62	19	36595563	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	265105	36595563	22533420	1204	8954										
ZNF607	84775	genome.wustl.edu	37	chr19	38189024	38189024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttacatttaaagggtttctCaccagtatgaactctatgat	7	7	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:38189024C>G	ENST00000355202.4	-	5	2603	c.2008G>C	c.(2008-2010)Gag>Cag	p.E670Q	ZNF607_ENST00000395835.3_Missense_Mutation_p.E669Q|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E670Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGGGTTTCTCACCAGTATGA	0.368																																																	1	Substitution - Missense(1)	cervix(1)											117	118	118					19																	38189024		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.2008G>C	19.37:g.38189024C>G	ENSP00000347338:p.Glu670Gln		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E670Q	ENST00000355202.4	37	c.2008	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766556	0.69878	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.25912	1.77;1.77	1.83	0.733	0.18289	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45316	0.1336	M	0.81239	2.535	0.25975	N	0.982453	D;D	0.58268	0.982;0.982	D;P	0.65233	0.933;0.82	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0308	0.19679	0.0:0.8191:0.0:0.1809	.	670;669	Q96SK3;F5H141	ZN607_HUMAN;.	Q	670;669	ENSP00000347338:E670Q;ENSP00000438015:E669Q	ENSP00000347338:E670Q	E	-	1	0	ZNF607	42880864	0.310000	0.24527	0.830000	0.32933	0.657000	0.38888	0.817000	0.27281	0.107000	0.17824	0.462000	0.41574	GAG	ZNF607	-	pfscan_Znf_C2H2		0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	C	NM_032689		38189024	-1	no_errors	ENST00000355202	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38189024	C	G	38189024	3	3	58	1	0	0	0	0	1	0	0	0	18063	835	29	1	86	1	ZNF607	19	38189024	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1593461	38189024	20939959	1205	8955										
ZNF573	126231	genome.wustl.edu	37	chr19	38230352	38230352	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttatgaattctctgatgtaGaagaaagtatgaggcagtgg	12	3	1	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:38230352G>C	ENST00000590414.2	-	4	1060	c.1039C>G	c.(1039-1041)Cta>Gta	p.L347V	ZNF573_ENST00000357309.3_Missense_Mutation_p.L259V|ZNF573_ENST00000536220.1_Missense_Mutation_p.L259V|ZNF573_ENST00000392138.1_Missense_Mutation_p.L260V|ZNF573_ENST00000339503.4_Missense_Mutation_p.L289V			Q86YE8	ZN573_HUMAN	zinc finger protein 573	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L289V(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CTCTGATGTAGAAGAAAGTAT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											74	74	74					19																	38230352		2203	4300	6503	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1039C>G	19.37:g.38230352G>C	ENSP00000465020:p.Leu347Val		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L347V	ENST00000590414.2	37	c.1039	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.673013	0.00758	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	1.87	0.567	0.17325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.17345	0.48	0.09310	N	1	B;B;B;B	0.26120	0.117;0.117;0.142;0.117	B;B;B;B	0.31191	0.046;0.076;0.125;0.076	T	0.45848	-0.9233	9	0.23302	T	0.38	.	7.5275	0.27664	0.0:0.0:0.5933:0.4067	.	260;289;327;259	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	V	260;259;259;289;259	ENSP00000375983:L260V;ENSP00000440464:L259V;ENSP00000349861:L259V;ENSP00000340171:L289V	ENSP00000340171:L289V	L	-	1	2	ZNF573	42922192	0.000000	0.05858	0.353000	0.25747	0.649000	0.38597	-0.933000	0.03959	0.844000	0.35094	0.460000	0.39030	CTA	ZNF573	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	G	NM_152360		38230352	-1	no_errors	ENST00000590414	ensembl	human	known	70_37	missense	SNP	0.003	C	C	38230352	G	C	38230352	3	2	58	1	0	0	0	0	1	0	0	0	18035	933	33	1	962	1	ZNF573	19	38230352	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	41328	38230352	20898631	1206	8956										
RASGRP4	115727	genome.wustl.edu	37	chr19	38910838	38910838	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggccacggtggcccagaaacGacctatgacttcttctagct	10	13	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:38910838G>C	ENST00000587738.1	-	5	512	c.442C>G	c.(442-444)Cgt>Ggt	p.R148G	RASGRP4_ENST00000587753.1_Missense_Mutation_p.R148G|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R148G|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R148G|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R148G|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R148G|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R148G			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	148	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R148G(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCAGAAACGACCTATGACT	0.602																																																	1	Substitution - Missense(1)	cervix(1)											33	40	38					19																	38910838		1975	4151	6126	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.442C>G	19.37:g.38910838G>C	ENSP00000465772:p.Arg148Gly		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.R148G	ENST00000587738.1	37	c.442	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568748	0.45798	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.34	3.24	0.37175	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.202350	0.42294	D	0.000735	T	0.21761	0.0524	L	0.43152	1.355	0.23848	N	0.996674	B;B;B;P;B;B;P	0.40144	0.145;0.145;0.176;0.704;0.082;0.252;0.704	B;B;B;B;B;B;B	0.36608	0.07;0.07;0.057;0.1;0.057;0.229;0.1	T	0.15578	-1.0432	10	0.49607	T	0.09	-22.3692	6.491	0.22115	0.0:0.1821:0.6024:0.2155	.	148;148;148;148;148;148;148	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	G	148	ENSP00000411878:R148G;ENSP00000293062:R148G;ENSP00000445966:R148G;ENSP00000416463:R148G	ENSP00000293062:R148G	R	-	1	0	RASGRP4	43602678	1.000000	0.71417	0.909000	0.35828	0.927000	0.56198	3.927000	0.56499	2.251000	0.74343	0.491000	0.48974	CGT	RASGRP4	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.602	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	G	NM_170604		38910838	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.934	C	C	38910838	G	C	38910838	3	2	58	1	0	0	0	0	1	0	0	0	13107	1058	37	1	1631	1	RASGRP4	19	38910838	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	680486	38910838	20218145	1207	8957										
ECH1	1891	genome.wustl.edu	37	chr19	39306254	39306254	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctgggacgcgagggctctCagagcttggagaaggtgacg	18	9	1	3	rs564889381	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:39306254C>T	ENST00000221418.4	-	10	1218	c.986G>A	c.(985-987)tGa>tAa	p.*329*	LGALS4_ENST00000307751.4_5'Flank|LGALS4_ENST00000597803.1_5'Flank	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	0					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.*329*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGAGGGCTCTCAGAGCTTGGA	0.592													C|||	4	0.000798722	0	0	5008	,	,		15051	0		0	False		,,,				2504	0.0041																1	Substitution - coding silent(1)	cervix(1)											99	78	85					19																	39306254		2203	4300	6503	SO:0001819	synonymous_variant	1891			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"enoyl Coenzyme A hydratase 1, peroxisomal"			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.986G>A	19.37:g.39306254C>T			A8K745|Q8WVX0|Q96EZ9	Silent	SNP	pfam_Crotonase_core	p.*329	ENST00000221418.4	37	c.986	CCDS33014.1	19																																																																																			ECH1	-	NULL		0.592	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECH1	HGNC	protein_coding	OTTHUMT00000462650.1	C			39306254	-1	no_errors	ENST00000221418	ensembl	human	known	70_37	silent	SNP	0.997	T	T	39306254	C	T	39306254	2	4	58	1	0	0	0	0	0	0	0	1	4902	837	29	1		1	ECH1	19	39306254	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	395416	39306254	19822729	1208	8958										
IL28A	282616	genome.wustl.edu	37	chr19	39760152	39760152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggagcgccccatggctttgGaggctgagctggccctgacg	17	12	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:39760152G>A	ENST00000331982.5	+	4	350	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	99					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.E99K(1)									CATGGCTTTGGAGGCTGAGCT	0.627																																																	1	Substitution - Missense(1)	cervix(1)											38	42	41					19																	39760152		2203	4300	6503	SO:0001583	missense	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.295G>A	19.37:g.39760152G>A	ENSP00000333639:p.Glu99Lys		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.E99K	ENST00000331982.5	37	c.295	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	g	15.43	2.831984	0.50845	.	.	ENSG00000183709	ENST00000331982	T	0.36520	1.25	3.2	2.03	0.26663	.	0.188214	0.37178	N	0.002214	T	0.48642	0.1511	M	0.82823	2.61	0.26802	N	0.969189	D	0.60575	0.988	P	0.52856	0.711	T	0.44390	-0.9331	10	0.59425	D	0.04	-6.3662	8.1583	0.31183	0.0:0.3758:0.6242:0.0	.	99	Q8IZJ0	IL28A_HUMAN	K	99	ENSP00000333639:E99K	ENSP00000333639:E99K	E	+	1	0	IL28A	44451992	1.000000	0.71417	0.974000	0.42286	0.525000	0.34531	0.965000	0.29319	0.578000	0.29487	0.398000	0.26397	GAG	IL28A	-	NULL		0.627	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28A	HGNC	protein_coding	OTTHUMT00000463833.1	G	NM_172138		39760152	1	no_errors	ENST00000331982	ensembl	human	known	70_37	missense	SNP	0.969	A	A	39760152	G	A	39760152	3	1	58	1	0	0	0	0	1	0	0	0	7702	1175	41	1	309	1	IL28A	19	39760152	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	453898	39760152	19368831	1209	8959										
LRFN1	57622	genome.wustl.edu	37	chr19	39798861	39798861	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cacacgtggctgacccgcggGagcgacctggagcccttgac	14	15	0	2	rs566825325		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:39798861G>C	ENST00000248668.4	-	2	1727	c.1728C>G	c.(1726-1728)ctC>ctG	p.L576L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	576						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L528L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGACCCGCGGGAGCGACCTGG	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											18	23	22					19																	39798861		2136	4234	6370	SO:0001819	synonymous_variant	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1728C>G	19.37:g.39798861G>C			Q8TBS9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L576	ENST00000248668.4	37	c.1728	CCDS46071.1	19																																																																																			LRFN1	-	NULL		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	G	NM_020862		39798861	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	silent	SNP	0.943	C	C	39798861	G	C	39798861	2	2	58	1	0	0	0	0	0	0	0	1	8960	1161	41	1		1	LRFN1	19	39798861	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	38709	39798861	19330122	1210	8960										
AKT2	208	genome.wustl.edu	37	chr19	40771139	40771139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcctcttaccacgcttgtgGagccagccttctttgatgac	10	13	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:40771139G>A	ENST00000392038.2	-	2	334	c.36C>T	c.(34-36)ctC>ctT	p.L12L	AKT2_ENST00000424901.1_Silent_p.L12L|AKT2_ENST00000311278.6_Silent_p.L12L|AKT2_ENST00000579047.1_Intron	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	12	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.L12L(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CACGCTTGTGGAGCCAGCCTT	0.602			A		"ovarian, pancreatic "																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	1	Substitution - coding silent(1)	cervix(1)											81	64	70					19																	40771139		2203	4300	6503	SO:0001819	synonymous_variant	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.36C>T	19.37:g.40771139G>A			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.L12	ENST00000392038.2	37	c.36	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317399	0.23908	.	.	ENSG00000105221	ENST00000358335	.	.	.	5.16	-6.36	0.01969	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68622	-0.5360	5	0.87932	D	0	.	8.7455	0.34583	0.3475:0.4986:0.1539:0.0	.	.	.	.	F	11	.	ENSP00000351095:S11F	S	-	2	0	AKT2	45462979	0.994000	0.37717	0.973000	0.42090	0.978000	0.69477	0.138000	0.16016	-0.535000	0.06307	-0.291000	0.09656	TCC	AKT2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.602	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	G	NM_001626		40771139	-1	no_errors	ENST00000392038	ensembl	human	known	70_37	silent	SNP	0.911	A	A	40771139	G	A	40771139	2	1	58	1	0	0	0	0	0	0	0	1	480	1161	41	1		1	AKT2	19	40771139	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	972278	40771139	18357844	1211	8961										
LTBP4	8425	genome.wustl.edu	37	chr19	41111433	41111433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgaggcggtggcgcgggcgGaagcggcggcgcgggcggag	25	10	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:41111433G>A	ENST00000308370.7	+	6	766	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E219K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E189K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	256					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E256K(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ggcgcgggcggaagcggcggc	0.731																																																	1	Substitution - Missense(1)	cervix(1)											12	15	14					19																	41111433		1865	3872	5737	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.766G>A	19.37:g.41111433G>A	ENSP00000311905:p.Glu256Lys		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E256K	ENST00000308370.7	37	c.766		19	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111472	0.20714	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80480	-1.37;-1.38;-1.34	3.87	0.287	0.15714	.	1.013460	0.07959	U	0.982045	T	0.64821	0.2633	L	0.36672	1.1	0.22827	N	0.998684	B;B;B	0.26809	0.16;0.16;0.16	B;B;B	0.23275	0.045;0.045;0.045	T	0.51244	-0.8730	10	0.02654	T	1	.	6.4147	0.21710	0.0:0.3813:0.4226:0.1961	.	189;256;219	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	K	219;256;189	ENSP00000204005:E219K;ENSP00000311905:E256K;ENSP00000380031:E189K	ENSP00000204005:E219K	E	+	1	0	LTBP4	45803273	0.978000	0.34361	0.774000	0.31636	0.420000	0.31355	2.584000	0.46102	0.806000	0.34183	0.491000	0.48974	GAA	LTBP4	-	NULL		0.731	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41111433	1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	0.127	A	A	41111433	G	A	41111433	3	1	58	1	0	0	0	0	1	0	0	0	9099	1175	41	1	1081	1	LTBP4	19	41111433	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	340294	41111433	18017550	1212	8962										
ATP5SL	55101	genome.wustl.edu	37	chr19	41944235	41944235	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tattgtccttttcttcttctGattgccctctggggccactg	8	12	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:41944235G>A	ENST00000221943.9	-	2	108	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	ATP5SL_ENST00000438807.3_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000590641.2_Nonsense_Mutation_p.Q41*|ATP5SL_ENST00000417807.3_Nonsense_Mutation_p.Q41*|ATP5SL_ENST00000597457.1_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000592922.2_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000589970.1_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000595425.1_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000301183.11_Nonsense_Mutation_p.Q41*	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	35						mitochondrion (GO:0005739)		p.Q35*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TTCTTCTTCTGATTGCCCTCT	0.572																																																	1	Substitution - Nonsense(1)	cervix(1)											132	117	122					19																	41944235		2203	4300	6503	SO:0001587	stop_gained	55101			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.103C>T	19.37:g.41944235G>A	ENSP00000221943:p.Gln35*		B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Nonsense_Mutation	SNP	NULL	p.Q41*	ENST00000221943.9	37	c.121	CCDS33032.1	19	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977269	0.53720	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	.	.	.	3.37	1.07	0.20283	.	0.289408	0.22293	N	0.061974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-27.0265	7.835	0.29365	0.0:0.0:0.5475:0.4525	.	.	.	.	X	35;35;41;41;111	.	ENSP00000221943:Q35X	Q	-	1	0	ATP5SL	46636075	0.075000	0.21258	0.001000	0.08648	0.139000	0.21198	1.459000	0.35234	0.365000	0.24400	0.655000	0.94253	CAG	ATP5SL	-	NULL		0.572	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	G	NM_018035		41944235	-1	no_errors	ENST00000417807	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	41944235	G	A	41944235	4	1	58	1	0	0	0	0	0	1	0	0	1165	1299	45	1	690	1	ATP5SL	19	41944235	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	832802	41944235	17184748	1213	8963										
ERF	2077	genome.wustl.edu	37	chr19	42753675	42753675	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcctctcccagcggttcctCcagctctgacgtgccatcac	7	18	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:42753675C>A	ENST00000222329.4	-	4	746	c.589G>T	c.(589-591)Gag>Tag	p.E197*	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Nonsense_Mutation_p.E122*	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	197					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.E197*(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGCGGTTCCTCCAGCTCTGAC	0.687																																																	1	Substitution - Nonsense(1)	cervix(1)											26	30	29					19																	42753675		2200	4296	6496	SO:0001587	stop_gained	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.589G>T	19.37:g.42753675C>A	ENSP00000222329:p.Glu197*		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Nonsense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E197*	ENST00000222329.4	37	c.589	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.040866	0.97226	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	.	.	.	4.63	4.63	0.57726	.	0.389757	0.24851	N	0.035093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.3824	0.74669	0.0:1.0:0.0:0.0	.	.	.	.	X	197;122	.	ENSP00000222329:E197X	E	-	1	0	ERF	47445515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.229000	0.58625	2.582000	0.87167	0.655000	0.94253	GAG	ERF	-	NULL		0.687	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42753675	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	42753675	C	A	42753675	4	1	58	1	0	0	0	0	0	1	0	0	5233	864	30	3	1061	3	ERF	19	42753675	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	809440	42753675	16375308	1214	8964										
LYPD3	27076	genome.wustl.edu	37	chr19	43965792	43965792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagtggtgacagatgtggttGaggccacagtcgtgggctct	16	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:43965792G>A	ENST00000244333.3	-	5	840	c.752C>T	c.(751-753)tCa>tTa	p.S251L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	251					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S251L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				AGATGTGGTTGAGGCCACAGT	0.612																																																	1	Substitution - Missense(1)	cervix(1)											119	130	126					19																	43965792		2203	4300	6503	SO:0001583	missense	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.752C>T	19.37:g.43965792G>A	ENSP00000244333:p.Ser251Leu		Q9UJ74	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.S251L	ENST00000244333.3	37	c.752	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449990	0.43531	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12774	2.65	4.99	-0.576	0.11731	.	0.521273	0.17790	N	0.161910	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.29822	-0.9999	10	0.54805	T	0.06	.	6.7163	0.23304	0.0882:0.0:0.3669:0.5449	.	251	O95274	LYPD3_HUMAN	L	251;199	ENSP00000244333:S251L	ENSP00000244333:S251L	S	-	2	0	LYPD3	48657632	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	0.014000	0.13333	-0.163000	0.10946	0.603000	0.83216	TCA	LYPD3	-	NULL		0.612	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	G	NM_014400		43965792	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	missense	SNP	0.000	A	A	43965792	G	A	43965792	3	1	58	1	0	0	0	0	1	0	0	0	9134	1294	45	1	292	1	LYPD3	19	43965792	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1212117	43965792	15163191	1215	8965										
ZNF233	353355	genome.wustl.edu	37	chr19	44778242	44778242	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcagagaatccacactggaGagaaaccctacaaatgtgat	8	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:44778242G>C	ENST00000391958.2	+	5	1556	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	ZNF233_ENST00000334152.1_Missense_Mutation_p.E459Q|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	477					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.E477Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCACACTGGAGAGAAACCCTA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											56	61	59					19																	44778242		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1429G>C	19.37:g.44778242G>C	ENSP00000375820:p.Glu477Gln		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E477Q	ENST00000391958.2	37	c.1429	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603895	0.87157	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.25912	1.77;1.77	4.29	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42154	0.1190	L	0.41906	1.305	0.45183	D	0.998196	D	0.89917	1.0	D	0.81914	0.995	T	0.34925	-0.9809	9	0.56958	D	0.05	-24.6845	15.8754	0.79156	0.0:0.0:1.0:0.0	.	477	A6NK53	ZN233_HUMAN	Q	459;477;372	ENSP00000334957:E459Q;ENSP00000375820:E477Q	ENSP00000280305:E372Q	E	+	1	0	ZNF233	49470082	0.998000	0.40836	0.978000	0.43139	0.997000	0.91878	3.901000	0.56303	2.102000	0.63906	0.609000	0.83330	GAG	ZNF233	-	pfscan_Znf_C2H2		0.448	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	G	NM_181756		44778242	1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44778242	G	C	44778242	3	2	58	1	0	0	0	0	1	0	0	0	17816	943	33	1	1443	1	ZNF233	19	44778242	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	812450	44778242	14350741	1216	8966										
QPCTL	54814	genome.wustl.edu	37	chr19	46198872	46198873	+	Missense_Mutation	DNP	GG	GG	AT													0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	actcgaagctcttcccacccGgatcgaccccctttgtaggg					rs376175267		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:46198872_46198873GG>AT	ENST00000012049.5	+	3	750_751	c.529_530GG>AT	c.(529-531)GGa>ATa	p.G177I	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	177					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.G177V(1)|p.G177R(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CTTCCCACCCGGATCGACCCCC	0.624																																																	2	Substitution - Missense(2)	cervix(2)																																								SO:0001583	missense	54814			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	Exception_encountered	19.37:g.46198872_46198873delinsAT	ENSP00000012049:p.Gly177Ile		Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.G177R|p.G177V	ENST00000012049.5	37	c.529|c.530	CCDS12672.1	19																																																																																			QPCTL	-	pfam_Peptidase_M28		0.624	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	G	NM_017659		46198872|46198873	1	no_errors	ENST00000012049	ensembl	human	known	70_37	missense	SNP	0.020|0.001	A|T	AT	46198873	GG	AT	46198872	3	1	58	1	0	0	0	0	1	0	0	0	12905	1117	39	2	539	2	QPCTL	19	46198872	Missense_Mutation	DNP	GG	TCGA-DR-A0ZM-01A-12D-A10S-08	1420630	46198872	12930111	1217	8967										
FBXO46	23403	genome.wustl.edu	37	chr19	46215971	46215971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccgttggagatgcggaaggcGatgcgcacctccccagggcc	15	14	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:46215971G>A	ENST00000317683.3	-	2	916	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	261								p.I261I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGCGGAAGGCGATGCGCACCT	0.731																																																	1	Substitution - coding silent(1)	cervix(1)											22	25	24					19																	46215971		1953	4111	6064	SO:0001819	synonymous_variant	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.783C>T	19.37:g.46215971G>A				Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I261	ENST00000317683.3	37	c.783	CCDS46116.1	19																																																																																			FBXO46	-	NULL		0.731	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46215971	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	silent	SNP	0.632	A	A	46215971	G	A	46215971	2	1	58	1	0	0	0	0	0	0	0	1	5773	1048	37	1		1	FBXO46	19	46215971	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	17099	46215971	12913012	1218	8968										
CALM3	808	genome.wustl.edu	37	chr19	47109107	47109107	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaccagctgactgaggagcaGattgcaggtgagtctgctat	14	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:47109107G>C	ENST00000291295.9	+	2	226	c.27G>C	c.(25-27)caG>caC	p.Q9H	CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000594523.1_5'UTR|CALM3_ENST00000599839.1_5'UTR|CALM3_ENST00000598871.1_Intron|CALM3_ENST00000596362.1_Missense_Mutation_p.Q9H|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000597743.1_Missense_Mutation_p.Q9H	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	9	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.Q9H(1)		breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CTGAGGAGCAGATTGCAGGTG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											184	147	159					19																	47109107		2203	4300	6503	SO:0001583	missense	808				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"EF-hand domain containing", "Endogenous ligands"	1449	protein-coding gene	gene with protein product	"prepro-calmodulin 3"	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.27G>C	19.37:g.47109107G>C	ENSP00000291295:p.Gln9His		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.Q9H	ENST00000291295.9	37	c.27	CCDS33061.1	19	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503256	0.26949	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	D	0.86297	-2.1	4.31	3.28	0.37604	.	0.000000	0.43110	D	0.000605	D	0.88280	0.6394	L	0.57130	1.785	0.58432	D	0.999999	.	.	.	.	.	.	D	0.87983	0.2744	8	0.87932	D	0	-27.3471	9.9583	0.41680	0.0999:0.0:0.9001:0.0	.	.	.	.	H	9	ENSP00000291295:Q9H	ENSP00000291295:Q9H	Q	+	3	2	CALM3	51800947	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.714000	0.61902	1.035000	0.39972	0.561000	0.74099	CAG	CALM3	-	pfscan_EF_HAND_2,prints_Recoverin		0.552	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM3	HGNC	protein_coding	OTTHUMT00000257483.2	G			47109107	1	no_errors	ENST00000291295	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47109107	G	C	47109107	3	2	58	1	0	0	0	0	1	0	0	0	2591	933	33	1	33	1	CALM3	19	47109107	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	893136	47109107	12019876	1219	8969										
DHX34	9704	genome.wustl.edu	37	chr19	47883165	47883165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccagcagcagctggaggagGaggaggaggatacgccagtc	17	10	0	0	rs539350022	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:47883165G>A	ENST00000328771.4	+	14	3254	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	969					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.E969K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCTGGAGGAGGAGGAGGAGGA	0.672																																																	1	Substitution - Missense(1)	cervix(1)											44	40	41					19																	47883165		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2905G>A	19.37:g.47883165G>A	ENSP00000331907:p.Glu969Lys		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E969K	ENST00000328771.4	37	c.2905	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	G	6.996	0.553933	0.13374	.	.	ENSG00000134815	ENST00000328771	T	0.02656	4.21	4.54	4.54	0.55810	.	1.453260	0.04509	N	0.382522	T	0.02688	0.0081	N	0.12182	0.205	0.09310	N	1	B	0.20671	0.047	B	0.16722	0.016	T	0.38779	-0.9645	10	0.08381	T	0.77	-2.2866	14.1961	0.65672	0.0:0.0:1.0:0.0	.	969	Q14147	DHX34_HUMAN	K	969	ENSP00000331907:E969K	ENSP00000331907:E969K	E	+	1	0	DHX34	52574996	0.984000	0.35163	0.138000	0.22173	0.176000	0.22953	3.211000	0.51137	2.075000	0.62263	0.561000	0.74099	GAG	DHX34	-	NULL		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	G	NM_014681		47883165	1	no_errors	ENST00000328771	ensembl	human	known	70_37	missense	SNP	0.020	A	A	47883165	G	A	47883165	3	1	58	1	0	0	0	0	1	0	0	0	4517	1175	41	1	2955	1	DHX34	19	47883165	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	774058	47883165	11245818	1220	8970										
LIG1	3978	genome.wustl.edu	37	chr19	48653381	48653381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtcttgggagctctgcgggGaggcttggtctgctcttcct	15	11	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:48653381G>A	ENST00000263274.7	-	8	1080	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Missense_Mutation_p.P153S|LIG1_ENST00000427526.2_Missense_Mutation_p.P190S|CTC-453G23.4_ENST00000594589.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	221					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.P221S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCTCTGCGGGGAGGCTTGGTC	0.612								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	cervix(1)											128	96	107					19																	48653381		2203	4300	6503	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.661C>T	19.37:g.48653381G>A	ENSP00000263274:p.Pro221Ser		B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.P221S	ENST00000263274.7	37	c.661	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478589	0.26511	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.56275	0.55;0.47;0.57;3.02	4.15	-0.928	0.10448	.	0.881125	0.10082	N	0.718266	T	0.40040	0.1101	M	0.64997	1.995	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.008	B;B;B	0.10450	0.003;0.005;0.003	T	0.30851	-0.9964	10	0.15952	T	0.53	-3.2332	1.9583	0.03381	0.1268:0.3756:0.3062:0.1914	.	190;153;221	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	S	221;252;190;153;189	ENSP00000263274:P221S;ENSP00000442841:P190S;ENSP00000441531:P153S;ENSP00000445928:P189S	ENSP00000263274:P221S	P	-	1	0	LIG1	53345193	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.151000	0.10175	-0.053000	0.13289	0.462000	0.41574	CCC	LIG1	-	NULL		0.612	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	G	NM_000234		48653381	-1	no_errors	ENST00000263274	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48653381	G	A	48653381	3	1	58	1	0	0	0	0	1	0	0	0	8801	1174	41	1	2182	1	LIG1	19	48653381	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	770216	48653381	10475602	1221	8971										
KCNJ14	3770	genome.wustl.edu	37	chr19	48967909	48967909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttatgagaatgaacttgctCtgagctgctgccaggaggaa	13	7	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:48967909C>G	ENST00000391884.1	+	2	1662	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	CTC-273B12.5_ENST00000593476.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.L396V|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000600650.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	396					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.L396V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TGAACTTGCTCTGAGCTGCTG	0.542																																					NSCLC(148;170 3504 35216)												1	Substitution - Missense(1)	cervix(1)											70	72	71					19																	48967909		2203	4300	6503	SO:0001583	missense	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1186C>G	19.37:g.48967909C>G	ENSP00000375756:p.Leu396Val			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.L396V	ENST00000391884.1	37	c.1186	CCDS12721.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512556	0.85389	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.90261	-2.64;-2.64	5.24	5.24	0.73138	.	0.175050	0.38058	N	0.001838	D	0.91971	0.7457	L	0.58101	1.795	0.53688	D	0.99997	P	0.45986	0.87	P	0.51055	0.657	D	0.91048	0.4876	10	0.41790	T	0.15	.	17.1398	0.86749	0.0:1.0:0.0:0.0	.	396	Q9UNX9	IRK14_HUMAN	V	396	ENSP00000341479:L396V;ENSP00000375756:L396V	ENSP00000341479:L396V	L	+	1	2	KCNJ14	53659721	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	4.060000	0.57477	2.837000	0.97791	0.655000	0.94253	CTG	KCNJ14	-	pirsf_K_chnl_inward-rec_Kir		0.542	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48967909	1	no_errors	ENST00000342291	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48967909	C	G	48967909	3	3	58	1	0	0	0	0	1	0	0	0	8068	912	32	1	1192	1	KCNJ14	19	48967909	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	314528	48967909	10161074	1222	8972										
SULT2B1	6820	genome.wustl.edu	37	chr19	49100097	49100097	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cactcaaccttcagcgccatGaaggccaacaccatgtccaa	6	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49100097G>A	ENST00000201586.2	+	6	925	c.747G>A	c.(745-747)atG>atA	p.M249I	SULT2B1_ENST00000323090.4_Missense_Mutation_p.M234I|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	249					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)	p.M249I(1)|p.M234I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCAGCGCCATGAAGGCCAACA	0.652																																																	2	Substitution - Missense(2)	cervix(2)											94	62	73					19																	49100097		2203	4300	6503	SO:0001583	missense	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.747G>A	19.37:g.49100097G>A	ENSP00000201586:p.Met249Ile		O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M249I	ENST00000201586.2	37	c.747	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241481	0.79912	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02525	4.26;4.26	4.29	4.29	0.51040	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000002	T	0.22475	0.0542	H	0.94345	3.525	0.43191	D	0.995021	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.21415	-1.0246	10	0.87932	D	0	.	14.6719	0.68951	0.0:0.0:1.0:0.0	.	234;249	O00204-2;O00204	.;ST2B1_HUMAN	I	249;234	ENSP00000201586:M249I;ENSP00000312880:M234I	ENSP00000201586:M249I	M	+	3	0	SULT2B1	53791909	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.298000	0.72763	2.108000	0.64289	0.555000	0.69702	ATG	SULT2B1	-	pfam_Sulfotransferase_dom		0.652	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	G	NM_004605		49100097	1	no_errors	ENST00000201586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49100097	G	A	49100097	3	1	58	1	0	0	0	0	1	0	0	0	15412	1290	45	1	795	1	SULT2B1	19	49100097	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	132188	49100097	10028886	1223	8973										
RPL18	6141	genome.wustl.edu	37	chr19	49119188	49119188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgaaatgccggtacacctctCggcccttgcgaggacctagg	12	14	1	0	rs368131281		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49119188C>T	ENST00000549920.1	-	6	829	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	RPL18_ENST00000552588.1_Missense_Mutation_p.R117Q|RPL18_ENST00000550645.1_Intron|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000549273.1_Missense_Mutation_p.R146Q|FAM83E_ENST00000595110.1_5'Flank	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	146					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R146Q(1)		cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTACACCTCTCGGCCCTTGCG	0.657																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	35	35	35		437	5.2	1	19		35	0,8600		0,0,4300	no	missense	RPL18	NM_000979.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	146/189	49119188	1,13005	2203	4300	6503	SO:0001583	missense	6141			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.437G>A	19.37:g.49119188C>T	ENSP00000447001:p.Arg146Gln		F8VWC5|Q8WTZ6	Missense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.R146Q	ENST00000549920.1	37	c.437	CCDS12726.1	19	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778392	0.90195	2.27E-4	0.0	ENSG00000063177	ENST00000549920;ENST00000552588;ENST00000549273;ENST00000550973	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	H	0.96996	3.92	0.80722	D	1	P	0.38992	0.653	B	0.27887	0.084	D	0.84109	0.0400	9	0.87932	D	0	-1.7481	16.7117	0.85387	0.0:1.0:0.0:0.0	.	146	Q07020	RL18_HUMAN	Q	146;117;146;94	.	ENSP00000449610:R146Q	R	-	2	0	RPL18	53811000	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.758000	0.74929	2.627000	0.88993	0.467000	0.42956	CGA	RPL18	-	NULL		0.657	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18	HGNC	protein_coding	OTTHUMT00000405732.2	C	NM_000979		49119188	-1	no_errors	ENST00000549920	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49119188	C	T	49119188	3	4	58	1	0	0	0	0	1	0	0	0	13594	884	31	1	137	1	RPL18	19	49119188	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	19091	49119188	10009795	1224	8974										
SPHK2	56848	genome.wustl.edu	37	chr19	49131293	49131293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgagtgagtgggatggcatCgtcacggtctcgggagacgg	18	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49131293C>T	ENST00000245222.4	+	5	1089	c.723C>T	c.(721-723)atC>atT	p.I241I	SPHK2_ENST00000599748.1_Silent_p.I205I|SPHK2_ENST00000340932.3_Silent_p.I205I|SPHK2_ENST00000601712.1_Silent_p.I205I|SPHK2_ENST00000600537.1_Silent_p.I182I|SPHK2_ENST00000443164.1_Silent_p.I303I|SPHK2_ENST00000598088.1_Silent_p.I241I|SPHK2_ENST00000599029.1_Silent_p.I205I	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	241	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.I241I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGATGGCATCGTCACGGTCT	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											69	74	72					19																	49131293		2203	4300	6503	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.723C>T	19.37:g.49131293C>T			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.I303	ENST00000245222.4	37	c.909	CCDS12727.1	19																																																																																			SPHK2	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.652	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	C			49131293	1	no_errors	ENST00000443164	ensembl	human	known	70_37	silent	SNP	0.998	T	T	49131293	C	T	49131293	2	4	58	1	0	0	0	0	0	0	0	1	15077	874	31	1		1	SPHK2	19	49131293	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	12105	49131293	9997690	1225	8975										
NUCB1	4924	genome.wustl.edu	37	chr19	49425609	49425609	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccagctccagccggtgaccaGaaggaggtggacacttcaga	13	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49425609G>C	ENST00000405315.4	+	13	1648	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	NUCB1_ENST00000407032.1_Missense_Mutation_p.Q438H|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_Missense_Mutation_p.Q438H	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	438						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.Q438H(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCGGTGACCAGAAGGAGGTGG	0.607																																																	1	Substitution - Missense(1)	cervix(1)											127	118	121					19																	49425609		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1314G>C	19.37:g.49425609G>C	ENSP00000385923:p.Gln438His		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.Q438H	ENST00000405315.4	37	c.1314	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	g	12.22	1.871470	0.33069	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.23147	1.92;1.92;1.92	3.39	-0.247	0.13019	.	0.912318	0.09332	N	0.816785	T	0.13586	0.0329	N	0.14661	0.345	0.30143	N	0.803755	B	0.14438	0.01	B	0.10450	0.005	T	0.25537	-1.0129	10	0.54805	T	0.06	.	5.131	0.14909	0.1249:0.4222:0.4529:0.0	.	438	Q02818	NUCB1_HUMAN	H	438	ENSP00000385923:Q438H;ENSP00000385211:Q438H;ENSP00000263273:Q438H	ENSP00000263273:Q438H	Q	+	3	2	NUCB1	54117421	1.000000	0.71417	0.982000	0.44146	0.270000	0.26580	0.335000	0.19806	0.052000	0.16007	0.306000	0.20318	CAG	NUCB1	-	NULL		0.607	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	G	NM_006184		49425609	1	no_errors	ENST00000263273	ensembl	human	known	70_37	missense	SNP	0.994	C	C	49425609	G	C	49425609	3	2	58	1	0	0	0	0	1	0	0	0	10742	933	33	1	1360	1	NUCB1	19	49425609	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	294316	49425609	9703374	1226	8976										
FTL	2512	genome.wustl.edu	37	chr19	49469965	49469965	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggctgggcgagtatctcttCgaaaggctcactctcaagca	12	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49469965C>G	ENST00000331825.6	+	4	708	c.501C>G	c.(499-501)ttC>ttG	p.F167L	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	167					cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.F167L(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGTATCTCTTCGAAAGGCTCA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											66	69	68					19																	49469965		2203	4300	6503	SO:0001583	missense	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.501C>G	19.37:g.49469965C>G	ENSP00000366525:p.Phe167Leu		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.F167L	ENST00000331825.6	37	c.501	CCDS33070.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.840020|2.840020	0.51057|0.51057	.|.	.|.	ENSG00000087086|ENSG00000087086	ENST00000331825|ENST00000397259	T|.	0.75821|.	-0.97|.	4.46|4.46	-7.12|-7.12	0.01537|0.01537	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);|.	.|.	.|.	.|.	.|.	T|T	0.63674|0.63674	0.2531|0.2531	M|M	0.83118|0.83118	2.625|2.625	0.28247|0.28247	N|N	0.925413|0.925413	B|.	0.34349|.	0.45|.	B|.	0.25506|.	0.061|.	T|T	0.69672|0.69672	-0.5082|-0.5082	9|6	0.87932|0.87932	D|D	0|0	.|.	13.8813|13.8813	0.63684|0.63684	0.0:0.3274:0.0:0.6726|0.0:0.3274:0.0:0.6726	.|.	167|.	P02792|.	FRIL_HUMAN|.	L|W	167|167	ENSP00000366525:F167L|.	ENSP00000366525:F167L|ENSP00000446314:S167W	F|S	+|+	3|2	2|0	FTL|FTL	54161777|54161777	0.948000|0.948000	0.32251|0.32251	0.765000|0.765000	0.31456|0.31456	0.975000|0.975000	0.68041|0.68041	-0.011000|-0.011000	0.12721|0.12721	-1.324000|-1.324000	0.02272|0.02272	-1.012000|-1.012000	0.02466|0.02466	TTC|TCG	FTL	-	superfamily_Ferritin/RNR-like		0.562	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	C	NM_000146		49469965	1	no_errors	ENST00000331825	ensembl	human	known	70_37	missense	SNP	0.657	G	G	49469965	C	G	49469965	3	3	58	1	0	0	0	0	1	0	0	0	6102	883	31	1	515	1	FTL	19	49469965	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	44356	49469965	9659018	1227	8977										
LHB	3972	genome.wustl.edu	37	chr19	49519367	49519367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agttgggggtggtcacaggtCaaggggtggtctttgggacc	19	6	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49519367C>T	ENST00000221421.2	-	3	383	c.384G>A	c.(382-384)ttG>ttA	p.L128L	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	128					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.L128L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGTCACAGGTCAAGGGGTGGT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											57	64	62					19																	49519367		2203	4300	6503	SO:0001819	synonymous_variant	3972				CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.384G>A	19.37:g.49519367C>T			Q9UDI0	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.L128	ENST00000221421.2	37	c.384	CCDS12748.1	19																																																																																			LHB	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.642	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHB	HGNC	protein_coding	OTTHUMT00000466246.1	C	NM_000894		49519367	-1	no_errors	ENST00000221421	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49519367	C	T	49519367	2	4	58	1	0	0	0	0	0	0	0	1	8781	825	29	1		1	LHB	19	49519367	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	49402	49519367	9609616	1228	8978										
SNRNP70	6625	genome.wustl.edu	37	chr19	49601710	49601710	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcacaatgatcccaatgctCagggggatgccttcaagact	9	12	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49601710C>G	ENST00000598441.1	+	5	516	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	SNRNP70_ENST00000221448.5_Missense_Mutation_p.Q98E			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	98					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q98E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TCCCAATGCTCAGGGGGATGC	0.527											OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											123	123	123					19																	49601710		2203	4300	6503	SO:0001583	missense	6625				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.292C>G	19.37:g.49601710C>G	ENSP00000472998:p.Gln98Glu	963	B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q98E	ENST00000598441.1	37	c.292	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290649	0.40494	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T;T	0.73681	3.53;-0.77	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	N	0.03324	-0.35	0.80722	D	1	B;B	0.14012	0.006;0.009	B;B	0.16289	0.001;0.015	T	0.52034	-0.8629	10	0.37606	T	0.19	-34.9646	18.1994	0.89833	0.0:1.0:0.0:0.0	.	98;98	P08621;P08621-2	RU17_HUMAN;.	E	98	ENSP00000221448:Q98E;ENSP00000385077:Q98E	ENSP00000221448:Q98E	Q	+	1	0	SNRNP70	54293522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.121000	0.77160	2.679000	0.91253	0.655000	0.94253	CAG	SNRNP70	-	NULL		0.527	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	C	NM_003089		49601710	1	no_errors	ENST00000598441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49601710	C	G	49601710	3	3	58	1	0	0	0	0	1	0	0	0	14888	827	29	1	306	1	SNRNP70	19	49601710	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	82343	49601710	9527273	1229	8979										
NOSIP	51070	genome.wustl.edu	37	chr19	50059841	50059841	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgcagggggtggcgttgctCaggctgtcgcgggtcacggc	20	11	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50059841C>G	ENST00000596358.1	-	7	748	c.690G>C	c.(688-690)ctG>ctC	p.L230L	NOSIP_ENST00000391853.3_Silent_p.L230L|NOSIP_ENST00000339093.3_Silent_p.L233L	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	230					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L230L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TGGCGTTGCTCAGGCTGTCGC	0.701																																																	1	Substitution - coding silent(1)	cervix(1)											35	34	35					19																	50059841		2203	4299	6502	SO:0001819	synonymous_variant	51070			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.690G>C	19.37:g.50059841C>G			Q96FD2	Silent	SNP	pirsf_Nitric_oxide_synth-interacting	p.L230	ENST00000596358.1	37	c.690	CCDS12772.1	19																																																																																			NOSIP	-	pirsf_Nitric_oxide_synth-interacting		0.701	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOSIP	HGNC	protein_coding	OTTHUMT00000465423.1	C			50059841	-1	no_errors	ENST00000391853	ensembl	human	known	70_37	silent	SNP	1.000	G	G	50059841	C	G	50059841	2	3	58	1	0	0	0	0	0	0	0	1	10569	813	29	1		1	NOSIP	19	50059841	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	458131	50059841	9069142	1230	8980										
SCAF1	58506	genome.wustl.edu	37	chr19	50154543	50154543	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcatcagccgcatctcggaGaccctggcgggcatctacga	12	14	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50154543G>A	ENST00000360565.3	+	7	1021	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	299					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E299E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCATCTCGGAGACCCTGGCGG	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											18	19	19					19																	50154543		2202	4297	6499	SO:0001819	synonymous_variant	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.897G>A	19.37:g.50154543G>A			Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	NULL	p.E299	ENST00000360565.3	37	c.897	CCDS33074.1	19																																																																																			SCAF1	-	NULL		0.642	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	G	NM_021228		50154543	1	no_errors	ENST00000360565	ensembl	human	known	70_37	silent	SNP	0.621	A	A	50154543	G	A	50154543	2	1	58	1	0	0	0	0	0	0	0	1	13898	933	33	1		1	SCAF1	19	50154543	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	94702	50154543	8974440	1231	8981										
PNKP	11284	genome.wustl.edu	37	chr19	50369700	50369700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctcaggatctgcgaccagctCcactgaggattggaggggtg	15	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50369700C>T	ENST00000322344.3	-	3	263	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PNKP_ENST00000600910.1_Missense_Mutation_p.E52K|PNKP_ENST00000600573.1_Missense_Mutation_p.E52K|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Missense_Mutation_p.E52K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	52	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.E52K(2)|p.E52Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGACCAGCTCCACTGAGGAT	0.572								Other BER factors																																									3	Substitution - Missense(3)	cervix(2)|breast(1)											122	111	115					19																	50369700		2203	4300	6503	SO:0001583	missense	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.154G>A	19.37:g.50369700C>T	ENSP00000323511:p.Glu52Lys		Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.E52K	ENST00000322344.3	37	c.154	CCDS12783.1	19	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668129	0.29604	.	.	ENSG00000039650	ENST00000322344	T	0.25085	1.82	3.91	2.87	0.33458	SMAD/FHA domain (1);	0.068724	0.56097	D	0.000021	T	0.13756	0.0333	N	0.20685	0.6	0.40041	D	0.975657	B;B	0.15930	0.015;0.01	B;B	0.12837	0.008;0.007	T	0.09596	-1.0667	10	0.21014	T	0.42	-34.6812	7.725	0.28755	0.0:0.8853:0.0:0.1147	.	13;52	Q9BUL2;Q96T60	.;PNKP_HUMAN	K	52	ENSP00000323511:E52K	ENSP00000323511:E52K	E	-	1	0	PNKP	55061512	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.854000	0.27791	1.242000	0.43836	0.655000	0.94253	GAG	PNKP	-	superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met		0.572	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	C	NM_007254		50369700	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50369700	C	T	50369700	3	4	58	1	0	0	0	0	1	0	0	0	12171	864	30	1	1471	1	PNKP	19	50369700	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	215157	50369700	8759283	1232	8982										
VRK3	51231	genome.wustl.edu	37	chr19	50482462	50482462	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcggcttctcctcatacgtGagggccatcaccaccttcag	10	15	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50482462G>A	ENST00000599538.1	-	14	1978	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	VRK3_ENST00000594948.1_Silent_p.L438L|VRK3_ENST00000601341.1_Silent_p.L388L|VRK3_ENST00000443401.2_Silent_p.L207L|VRK3_ENST00000316763.3_Silent_p.L438L|VRK3_ENST00000377011.2_Silent_p.L388L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.L438L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCTCATACGTGAGGGCCATCA	0.587																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												1	Substitution - coding silent(1)	cervix(1)											133	106	115					19																	50482462		2203	4300	6503	SO:0001819	synonymous_variant	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1314C>T	19.37:g.50482462G>A			A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.L438	ENST00000599538.1	37	c.1314	CCDS12791.1	19																																																																																			VRK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.587	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	G	NM_016440		50482462	-1	no_errors	ENST00000316763	ensembl	human	known	70_37	silent	SNP	0.064	A	A	50482462	G	A	50482462	2	1	58	1	0	0	0	0	0	0	0	1	17252	1277	45	1		1	VRK3	19	50482462	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	112762	50482462	8646521	1233	8983										
POLD1	5424	genome.wustl.edu	37	chr19	50906815	50906815	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggttacaacatccagaacttCgaccttccgtacctcatctc	5	15	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50906815C>T	ENST00000440232.2	+	10	1256	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	POLD1_ENST00000599857.1_Silent_p.F401F|POLD1_ENST00000595904.1_Silent_p.F401F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	401					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F401F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAGAACTTCGACCTTCCGT	0.627								DNA polymerases (catalytic subunits)																																									2	Substitution - coding silent(2)	cervix(2)											226	194	205					19																	50906815		2203	4300	6503	SO:0001819	synonymous_variant	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1203C>T	19.37:g.50906815C>T			Q8NER3|Q96H98	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.F401	ENST00000440232.2	37	c.1203	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.627	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	C			50906815	1	no_errors	ENST00000440232	ensembl	human	known	70_37	silent	SNP	0.261	T	T	50906815	C	T	50906815	2	4	58	1	0	0	0	0	0	0	0	1	12214	883	31	1		1	POLD1	19	50906815	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	424353	50906815	8222168	1234	8984										
MYBPC2	4606	genome.wustl.edu	37	chr19	50957566	50957566	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgcgcatcacctcggttggaGaggattgggccatccttgtc	13	11	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50957566G>C	ENST00000357701.5	+	18	2005	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	652	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E652Q(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTCGGTTGGAGAGGATTGGGC	0.632																																																	1	Substitution - Missense(1)	cervix(1)											42	45	44					19																	50957566		2052	4184	6236	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1954G>C	19.37:g.50957566G>C	ENSP00000350332:p.Glu652Gln		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E652Q	ENST00000357701.5	37	c.1954	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	g	19.88	3.908779	0.72868	.	.	ENSG00000086967	ENST00000357701	T	0.58652	0.32	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.35262	U	0.003327	T	0.64438	0.2598	L	0.58583	1.82	0.41687	D	0.989323	P	0.45986	0.87	P	0.53988	0.739	T	0.63567	-0.6608	10	0.29301	T	0.29	.	14.2554	0.66048	0.0:0.0:1.0:0.0	.	652	Q14324	MYPC2_HUMAN	Q	652	ENSP00000350332:E652Q	ENSP00000350332:E652Q	E	+	1	0	MYBPC2	55649378	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	8.625000	0.90965	1.978000	0.57642	0.450000	0.29827	GAG	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	G	NM_004533		50957566	1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50957566	G	C	50957566	3	2	58	1	0	0	0	0	1	0	0	0	10035	943	33	1	2024	1	MYBPC2	19	50957566	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	50751	50957566	8171417	1235	8985										
MYBPC2	4606	genome.wustl.edu	37	chr19	50962466	50962466	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gacttcgacaccgtgttcttCgtgcgccaggcggcccgctc	12	16	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50962466C>T	ENST00000357701.5	+	23	2745	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	898	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.F898F(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGTGTTCTTCGTGCGCCAGG	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											16	20	19					19																	50962466		2084	4192	6276	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2694C>T	19.37:g.50962466C>T			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F898	ENST00000357701.5	37	c.2694	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.687	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50962466	1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50962466	C	T	50962466	2	4	58	1	0	0	0	0	0	0	0	1	10035	883	31	1		1	MYBPC2	19	50962466	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4900	50962466	8166517	1236	8986										
LILRB4	11006	genome.wustl.edu	37	chr19	55176613	55176613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accagcccctcatgcctacaGggtcagtcccccacagtggt	9	17	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:55176613G>C	ENST00000391736.1	+	8	1054	c.739G>C	c.(739-741)Ggg>Cgg	p.G247R	LILRB4_ENST00000391734.3_Missense_Mutation_p.G247R|LILRB4_ENST00000391733.3_Missense_Mutation_p.G247R|LILRB4_ENST00000430952.2_Missense_Mutation_p.G247R|LILRB4_ENST00000270452.2_Missense_Mutation_p.G247R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	247					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G247R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATGCCTACAGGGTCAGTCCC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											44	38	40					19																	55176613		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.739G>C	19.37:g.55176613G>C	ENSP00000375616:p.Gly247Arg		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	pfam_Immunoglobulin,pfscan_Ig-like	p.G247R	ENST00000391736.1	37	c.739	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	g	1.941	-0.443481	0.04604	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00479	7.14;7.14;7.14;7.12;7.16;7.13	1.1	-0.014	0.13982	.	.	.	.	.	T	0.00440	0.0014	M	0.74647	2.275	0.09310	N	1	B;B;B;B;B	0.25486	0.127;0.0;0.001;0.009;0.001	B;B;B;B;B	0.18263	0.021;0.001;0.002;0.015;0.001	T	0.36578	-0.9742	9	0.38643	T	0.18	.	5.0774	0.14638	0.0:0.3817:0.6183:0.0	.	247;246;247;247;247	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	R	247;247;247;247;247;246	ENSP00000375616:G247R;ENSP00000270452:G247R;ENSP00000408995:G247R;ENSP00000375614:G247R;ENSP00000375613:G247R;ENSP00000401962:G246R	ENSP00000270452:G247R	G	+	1	0	LILRB4	59868425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.256000	0.18351	0.031000	0.15407	-0.484000	0.04775	GGG	LILRB4	-	NULL		0.652	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	G			55176613	1	no_errors	ENST00000270452	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55176613	G	C	55176613	3	2	58	1	0	0	0	0	1	0	0	0	8813	1000	35	4	761	4	LILRB4	19	55176613	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4214147	55176613	3952370	1237	8987										
NLRP7	199713	genome.wustl.edu	37	chr19	55451669	55451669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggggccgtgcagcaccaccGtgtaaggtgttagcttcctg	14	12	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:55451669G>A	ENST00000590030.1	-	3	558	c.518C>T	c.(517-519)aCg>aTg	p.T173M	NLRP7_ENST00000448121.2_Missense_Mutation_p.T173M|NLRP7_ENST00000588756.1_Missense_Mutation_p.T173M|NLRP7_ENST00000446217.1_Missense_Mutation_p.T201M|NLRP7_ENST00000328092.5_Missense_Mutation_p.T173M|NLRP7_ENST00000592784.1_Missense_Mutation_p.T173M|NLRP7_ENST00000340844.2_Missense_Mutation_p.T173M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	173	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.T173M(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGCACCACCGTGTAAGGTGT	0.537																																																	2	Substitution - Missense(2)	cervix(2)											134	142	139					19																	55451669		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.518C>T	19.37:g.55451669G>A	ENSP00000465520:p.Thr173Met		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T201M	ENST00000590030.1	37	c.602	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614192	0.46631	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	1.83	1.83	0.25207	NACHT nucleoside triphosphatase (1);	0.252992	0.20873	N	0.084127	D	0.88127	0.6353	M	0.84082	2.675	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.991	T	0.77739	-0.2475	10	0.87932	D	0	.	9.7452	0.40442	0.0:0.0:1.0:0.0	.	201;173;173;173	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	M	173;173;173;201	ENSP00000329568:T173M;ENSP00000409137:T173M;ENSP00000339491:T173M;ENSP00000414273:T201M	ENSP00000329568:T173M	T	-	2	0	NLRP7	60143481	0.053000	0.20554	0.005000	0.12908	0.011000	0.07611	1.488000	0.35551	1.355000	0.45865	0.449000	0.29647	ACG	NLRP7	-	pfscan_NACHT_NTPase		0.537	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	G	NM_139176		55451669	-1	no_errors	ENST00000446217	ensembl	human	known	70_37	missense	SNP	0.056	A	A	55451669	G	A	55451669	3	1	58	1	0	0	0	0	1	0	0	0	10506	1145	40	2	2627	2	NLRP7	19	55451669	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	275056	55451669	3677314	1238	8988										
NLRP9	338321	genome.wustl.edu	37	chr19	56223837	56223837	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcaaagctgcacataactgtCtgacaccagtgtctcctatt	7	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:56223837C>T	ENST00000332836.2	-	7	2648	c.2621G>A	c.(2620-2622)aGa>aAa	p.R874K	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	874						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R874K(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATAACTGTCTGACACCAGT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											102	97	98					19																	56223837		2201	4294	6495	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2621G>A	19.37:g.56223837C>T	ENSP00000331857:p.Arg874Lys		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R874K	ENST00000332836.2	37	c.2621	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	0.281	-0.986279	0.02180	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.43688	0.94	4.0	-2.2	0.06994	.	.	.	.	.	T	0.13286	0.0322	N	0.01751	-0.74	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.32981	-0.9886	9	0.02654	T	1	.	9.351	0.38138	0.0:0.5379:0.0:0.4621	.	874	Q7RTR0	NALP9_HUMAN	K	874	ENSP00000331857:R874K	ENSP00000331857:R874K	R	-	2	0	NLRP9	60915649	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.004000	0.12878	-0.672000	0.05266	-0.356000	0.07607	AGA	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56223837	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	T	T	56223837	C	T	56223837	3	4	58	1	0	0	0	0	1	0	0	0	10508	913	32	1	366	1	NLRP9	19	56223837	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	772168	56223837	2905146	1239	8989										
ZNF814	730051	genome.wustl.edu	37	chr19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ataagatctttctctagggtGaactcgctgatgtagaatga	10	6	2	5			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58385050G>A	ENST00000435989.2	-	3	1942	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	570					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCTAGGGTGAACTCGCTGA	0.468																																																	0													99	81	86					19																	58385050		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1708C>T	19.37:g.58385050G>A	ENSP00000410545:p.His570Tyr		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H570Y	ENST00000435989.2	37	c.1708	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	11.78	1.741734	0.30865	.	.	ENSG00000204514	ENST00000435989	T	0.28895	1.59	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40932	0.1137	H	0.95712	3.71	0.25009	N	0.991418	B	0.30584	0.286	B	0.20955	0.032	T	0.48927	-0.8991	9	0.72032	D	0.01	.	5.9789	0.19395	0.1797:0.0:0.8203:0.0	.	570	B7Z6K7	ZN814_HUMAN	Y	570	ENSP00000410545:H570Y	ENSP00000410545:H570Y	H	-	1	0	ZNF814	63076862	1.000000	0.71417	0.044000	0.18714	0.095000	0.18619	5.485000	0.66850	0.947000	0.37659	0.306000	0.20318	CAC	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58385050	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.988	A	A	58385050	G	A	58385050	3	1	58	1	0	0	0	0	1	0	0	0	18206	1290	45	1	863	1	ZNF814	19	58385050	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2161213	58385050	743933	1240	8990										
ZNF418	147686	genome.wustl.edu	37	chr19	58438814	58438814	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaactctctgatgattactGacgctatcatatttgctaaa	6	8	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58438814G>A	ENST00000396147.1	-	4	1026	c.735C>T	c.(733-735)gtC>gtT	p.V245V	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Silent_p.V245V|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Silent_p.V160V|ZNF418_ENST00000425570.3_Silent_p.V266V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	245					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.V245V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GATGATTACTGACGCTATCAT	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											81	80	80					19																	58438814		2169	4286	6455	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.735C>T	19.37:g.58438814G>A			Q2M1S2|Q670L5|Q96N18	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V245	ENST00000396147.1	37	c.735	CCDS42642.1	19																																																																																			ZNF418	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58438814	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	silent	SNP	0.000	A	A	58438814	G	A	58438814	2	1	58	1	0	0	0	0	0	0	0	1	17925	1277	45	1		1	ZNF418	19	58438814	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	53764	58438814	690169	1241	8991										
ZSCAN1	284312	genome.wustl.edu	37	chr19	58565155	58565155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgcgaggaagggccctttccGtgccccgagtgtggcaaggt	16	12	0	0	rs375333796		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58565155G>A	ENST00000282326.1	+	6	1210	c.963G>A	c.(961-963)ccG>ccA	p.P321P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	321					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.P321P(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTTCCGTGCCCCGAGT	0.627																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)						G		0,4406		0,0,2203	70	62	65		963	1.2	0	19		65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZSCAN1	NM_182572.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		321/409	58565155	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.963G>A	19.37:g.58565155G>A			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P321	ENST00000282326.1	37	c.963	CCDS12969.1	19																																																																																			ZSCAN1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	G	NM_182572		58565155	1	no_errors	ENST00000282326	ensembl	human	known	70_37	silent	SNP	0.997	A	A	58565155	G	A	58565155	2	1	58	1	0	0	0	0	0	0	0	1	18256	1132	40	2		2	ZSCAN1	19	58565155	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	126341	58565155	563828	1242	8992										
RPS5	6193	genome.wustl.edu	37	chr19	58906057	58906057	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctccttgcagggctcctcGaactcctatgccattaagaa	8	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58906057G>A	ENST00000596046.1	+	5	1404	c.555G>A	c.(553-555)tcG>tcA	p.S185S	RPS5_ENST00000601521.1_Silent_p.S185S|RPS5_ENST00000598098.1_Silent_p.S115S|RPS5_ENST00000598495.1_Silent_p.S206S|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000196551.3_Silent_p.S185S			P46782	RS5_HUMAN	ribosomal protein S5	185					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S185S(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		AGGGCTCCTCGAACTCCTATG	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											113	120	118					19																	58906057		2203	4300	6503	SO:0001819	synonymous_variant	6193			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.555G>A	19.37:g.58906057G>A			B2R4T2|Q96BN0	Silent	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.S185	ENST00000596046.1	37	c.555	CCDS12978.1	19																																																																																			RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc		0.562	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	G	NM_001009		58906057	1	no_errors	ENST00000196551	ensembl	human	known	70_37	silent	SNP	0.970	A	A	58906057	G	A	58906057	2	1	58	1	0	0	0	0	0	0	0	1	13678	1045	37	1		1	RPS5	19	58906057	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	340902	58906057	222926	1243	8993										
SIRPA	140885	genome.wustl.edu	37	chr20	1902277	1902277	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccgcgaggacgttcactctCaagtcatctgcgaggtggcc	12	14	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:1902277C>T	ENST00000358771.4	+	3	825	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.Q225*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.Q225*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	225	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q225*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGTTCACTCTCAAGTCATCTG	0.602																																					GBM(155;1668 1920 5945 42733 48121)												1	Substitution - Nonsense(1)	cervix(1)											70	62	65					20																	1902277		2203	4296	6499	SO:0001587	stop_gained	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.673C>T	20.37:g.1902277C>T	ENSP00000351621:p.Gln225*		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.Q225*	ENST00000358771.4	37	c.673	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194626	0.78902	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.86	1.57	0.23409	.	0.476928	0.19393	N	0.115355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.479	0.44682	0.5122:0.4878:0.0:0.0	.	.	.	.	X	225	.	ENSP00000348307:Q225X	Q	+	1	0	SIRPA	1850277	0.216000	0.23585	0.599000	0.28851	0.668000	0.39293	0.322000	0.19576	0.736000	0.32559	0.650000	0.86243	CAA	SIRPA	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	C	NM_080792		1902277	1	no_errors	ENST00000400068	ensembl	human	known	70_37	nonsense	SNP	0.437	T	T	1902277	C	T	1902277	4	4	58	1	0	0	0	0	0	1	0	0	14362	827	29	1	683	1	SIRPA	20	1902277	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		1902277	61123243	1244	8994										
TMC2	117532	genome.wustl.edu	37	chr20	2597898	2597898	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggtgctcttcctcagcctCctgccggtggcctacaccat	9	17	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:2597898C>G	ENST00000358864.1	+	16	2136	c.2121C>G	c.(2119-2121)ctC>ctG	p.L707L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	707					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.L707L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTCAGCCTCCTGCCGGTGG	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											136	90	105					20																	2597898		2203	4300	6503	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2121C>G	20.37:g.2597898C>G			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.L707	ENST00000358864.1	37	c.2121	CCDS13029.2	20																																																																																			TMC2	-	NULL		0.617	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2597898	1	no_errors	ENST00000358864	ensembl	human	known	70_37	silent	SNP	0.998	G	G	2597898	C	G	2597898	2	3	58	1	0	0	0	0	0	0	0	1	16015	842	30	1		1	TMC2	20	2597898	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	695621	2597898	60427622	1245	8995										
TMC2	117532	genome.wustl.edu	37	chr20	2621973	2621973	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggaggtcagcctctggaaaGagtgctcagagacctcccca	12	12	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:2621973G>T	ENST00000358864.1	+	20	2712	c.2697G>T	c.(2695-2697)aaG>aaT	p.K899N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	899					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.K899N(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCTGGAAAGAGTGCTCAGA	0.577																																																	1	Substitution - Missense(1)	cervix(1)											51	47	48					20																	2621973		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2697G>T	20.37:g.2621973G>T	ENSP00000351732:p.Lys899Asn		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.K899N	ENST00000358864.1	37	c.2697	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474191	0.43942	.	.	ENSG00000149488	ENST00000358864	T	0.66099	-0.19	4.63	4.63	0.57726	.	0.186416	0.33834	N	0.004514	T	0.48732	0.1516	L	0.27053	0.805	0.09310	N	1	B	0.31318	0.319	B	0.30029	0.11	T	0.49143	-0.8970	10	0.45353	T	0.12	-22.0902	13.7092	0.62659	0.0:0.0:1.0:0.0	.	899	Q8TDI7	TMC2_HUMAN	N	899	ENSP00000351732:K899N	ENSP00000351732:K899N	K	+	3	2	TMC2	2569973	0.977000	0.34250	0.522000	0.27862	0.131000	0.20780	2.017000	0.40981	2.504000	0.84457	0.655000	0.94253	AAG	TMC2	-	NULL		0.577	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2621973	1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.217	T	T	2621973	G	T	2621973	3	4	58	1	0	0	0	0	1	0	0	0	16015	933	33	3	2775	3	TMC2	20	2621973	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	24075	2621973	60403547	1246	8996										
SIGLEC1	6614	genome.wustl.edu	37	chr20	3686628	3686628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggagtggagcagttgaagtCcacctctgtgccctcgagaa	14	10	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:3686628C>T	ENST00000344754.4	-	3	468	c.469G>A	c.(469-471)Gac>Aac	p.D157N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D157N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	157	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D157N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGTTGAAGTCCACCTCTGTG	0.612																																																	1	Substitution - Missense(1)	cervix(1)											89	85	87					20																	3686628		2203	4300	6503	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.469G>A	20.37:g.3686628C>T	ENSP00000341141:p.Asp157Asn		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D157N	ENST00000344754.4	37	c.469	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	7.041	0.562537	0.13498	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.75477	-0.94;-0.94	5.21	-1.5	0.08691	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.836499	0.10070	N	0.719806	T	0.50905	0.1643	N	0.17674	0.51	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.006	B;B;B	0.16289	0.013;0.015;0.009	T	0.30060	-0.9991	10	0.13108	T	0.6	.	4.3499	0.11150	0.1774:0.2089:0.0:0.6137	.	157;157;157	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	N	157	ENSP00000341141:D157N;ENSP00000202578:D157N	ENSP00000202578:D157N	D	-	1	0	SIGLEC1	3634628	0.001000	0.12720	0.127000	0.21898	0.715000	0.41141	0.075000	0.14686	-0.104000	0.12154	0.462000	0.41574	GAC	SIGLEC1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3686628	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	missense	SNP	0.016	T	T	3686628	C	T	3686628	3	4	58	1	0	0	0	0	1	0	0	0	14335	855	30	1	4736	1	SIGLEC1	20	3686628	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1064655	3686628	59338892	1247	8997										
MCM8	84515	genome.wustl.edu	37	chr20	5974253	5974253	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacagcgaaaagatttatttCtgctctcaacaacgttgctg	7	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:5974253C>G	ENST00000378896.3	+	18	2719	c.2342C>G	c.(2341-2343)tCt>tGt	p.S781C	MCM8_ENST00000378883.1_Missense_Mutation_p.S734C|MCM8_ENST00000378886.2_Missense_Mutation_p.S821C|MCM8_ENST00000265187.4_Missense_Mutation_p.S765C	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	781					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S781C(1)|p.S765C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGATTTATTTCTGCTCTCAAC	0.368																																																	2	Substitution - Missense(2)	cervix(2)											61	66	65					20																	5974253		2203	4300	6503	SO:0001583	missense	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2342C>G	20.37:g.5974253C>G	ENSP00000368174:p.Ser781Cys		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.S821C	ENST00000378896.3	37	c.2462	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464366	0.84425	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03152	4.1;4.03;4.1;4.1	5.82	5.82	0.92795	.	0.107871	0.64402	D	0.000003	T	0.18882	0.0453	M	0.75264	2.295	0.54753	D	0.999983	D;D;D;D	0.71674	0.998;0.997;0.993;0.997	D;P;P;P	0.64595	0.927;0.848;0.887;0.848	T	0.00017	-1.2378	10	0.66056	D	0.02	-17.8435	20.1092	0.97906	0.0:1.0:0.0:0.0	.	734;821;765;781	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	C	781;734;821;765	ENSP00000368174:S781C;ENSP00000368161:S734C;ENSP00000368164:S821C;ENSP00000265187:S765C	ENSP00000265187:S765C	S	+	2	0	MCM8	5922253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.463000	0.60128	2.745000	0.94114	0.655000	0.94253	TCT	MCM8	-	NULL		0.368	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	C	NM_032485		5974253	1	no_errors	ENST00000378886	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5974253	C	G	5974253	3	3	58	1	0	0	0	0	1	0	0	0	9416	913	32	1	2408	1	MCM8	20	5974253	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2287625	5974253	57051267	1248	8998										
PLCB4	5332	genome.wustl.edu	37	chr20	9389808	9389808	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgctggctgccagatggtttCactgaactatcaaaccccag	9	13	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:9389808C>A	ENST00000378493.1	+	20	1958	c.1943C>A	c.(1942-1944)tCa>tAa	p.S648*	PLCB4_ENST00000378473.3_Nonsense_Mutation_p.S660*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.S660*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.S648*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.S648*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.S648*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	648	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S648*(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATGGTTTCACTGAACTAT	0.498																																																	1	Substitution - Nonsense(1)	cervix(1)											56	46	50					20																	9389808		2203	4300	6503	SO:0001587	stop_gained	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1943C>A	20.37:g.9389808C>A	ENSP00000367754:p.Ser648*		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S648*	ENST00000378493.1	37	c.1943	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	42	9.608289	0.99219	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.92	4.98	0.66077	.	0.058902	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6507	0.85188	0.1309:0.8691:0.0:0.0	.	.	.	.	X	648;660;648;648;648;496	.	ENSP00000278655:S648X	S	+	2	0	PLCB4	9337808	1.000000	0.71417	0.964000	0.40570	0.855000	0.48748	7.773000	0.85462	1.507000	0.48752	0.561000	0.74099	TCA	PLCB4	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_Pinositol-sp_Y		0.498	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	C			9389808	1	no_errors	ENST00000334005	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	9389808	C	A	9389808	4	1	58	1	0	0	0	0	0	1	0	0	12054	838	29	3	2061	3	PLCB4	20	9389808	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3415555	9389808	53635712	1249	8999										
JAG1	182	genome.wustl.edu	37	chr20	10639291	10639291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tcaaagtgggcaacgcccgtGttctgcttcagcgtctgcca	11	13	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:10639291G>A	ENST00000254958.5	-	4	1034	c.519C>T	c.(517-519)aaC>aaT	p.N173N	JAG1_ENST00000423891.2_Silent_p.N14N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	173					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.N173N(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAACGCCCGTGTTCTGCTTCA	0.507									Alagille Syndrome																																								2	Substitution - coding silent(2)	cervix(2)											131	116	121					20																	10639291		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.519C>T	20.37:g.10639291G>A			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.N173	ENST00000254958.5	37	c.519	CCDS13112.1	20																																																																																			JAG1	-	pfam_DSL,smart_DSL		0.507	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10639291	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10639291	G	A	10639291	2	1	58	1	0	0	0	0	0	0	0	1	7954	1368	48	4		4	JAG1	20	10639291	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1249483	10639291	52386229	1250	9000										
KIF16B	55614	genome.wustl.edu	37	chr20	16354918	16354918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtacctggcatccatgagggGaaccaggtgtgatttttcag	13	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:16354918G>A	ENST00000354981.2	-	20	3491	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	KIF16B_ENST00000408042.1_Missense_Mutation_p.P1112S|KIF16B_ENST00000378003.2_Missense_Mutation_p.P338S|KIF16B_ENST00000355755.3_Missense_Mutation_p.P1112S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1112					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.P1112S(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCATGAGGGGAACCAGGTGT	0.458																																																	2	Substitution - Missense(2)	cervix(2)											103	90	94					20																	16354918		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3334C>T	20.37:g.16354918G>A	ENSP00000347076:p.Pro1112Ser		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1112S	ENST00000354981.2	37	c.3334	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801713	0.50315	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.73258	-0.49;-0.53;2.38;-0.73	5.57	3.61	0.41365	.	0.313937	0.34338	N	0.004050	T	0.57607	0.2065	L	0.44542	1.39	0.19775	N	0.999952	P;P	0.51537	0.946;0.78	P;B	0.44561	0.453;0.197	T	0.51004	-0.8760	10	0.07482	T	0.82	.	7.6798	0.28507	0.0747:0.0:0.6336:0.2917	.	1112;1112	Q96L93-2;Q96L93	.;KI16B_HUMAN	S	1112;1112;956;338;1112	ENSP00000347076:P1112S;ENSP00000347995:P1112S;ENSP00000367242:P338S;ENSP00000384164:P1112S	ENSP00000347076:P1112S	P	-	1	0	KIF16B	16302918	0.999000	0.42202	0.197000	0.23402	0.462000	0.32619	3.221000	0.51215	0.705000	0.31890	-0.183000	0.12914	CCC	KIF16B	-	NULL		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	G	NM_017683		16354918	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	missense	SNP	0.264	A	A	16354918	G	A	16354918	3	1	58	1	0	0	0	0	1	0	0	0	8298	1174	41	1	647	1	KIF16B	20	16354918	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	5715627	16354918	46670602	1251	9001										
CRNKL1	51340	genome.wustl.edu	37	chr20	20024178	20024178	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aatctccgtttgctcacaatGatatcttcaataccccgcct	4	14	4	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:20024178G>C	ENST00000377340.2	-	8	1444	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	CRNKL1_ENST00000536226.1_Missense_Mutation_p.I310M|CRNKL1_ENST00000377327.4_Missense_Mutation_p.I459M	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	471	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I471M(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGCTCACAATGATATCTTCAA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											185	165	172					20																	20024178		2203	4300	6503	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1413C>G	20.37:g.20024178G>C	ENSP00000366557:p.Ile471Met		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.I471M	ENST00000377340.2	37	c.1413	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165290	0.38217	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.34072	1.38;1.38;1.38	6.07	6.07	0.98685	.	0.093177	0.64402	D	0.000001	T	0.22399	0.0540	N	0.24115	0.695	0.46901	D	0.999248	B	0.32051	0.354	B	0.25987	0.065	T	0.07121	-1.0789	10	0.72032	D	0.01	-18.9258	7.4272	0.27107	0.1339:0.0:0.7246:0.1414	.	471	Q9BZJ0	CRNL1_HUMAN	M	459;471;310	ENSP00000366544:I459M;ENSP00000366557:I471M;ENSP00000440733:I310M	ENSP00000366544:I459M	I	-	3	3	CRNKL1	19972178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.731000	0.47343	2.884000	0.98904	0.655000	0.94253	ATC	CRNKL1	-	NULL		0.418	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	G			20024178	-1	no_errors	ENST00000377340	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20024178	G	C	20024178	3	2	58	1	0	0	0	0	1	0	0	0	3896	1280	45	1	1165	1	CRNKL1	20	20024178	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3669260	20024178	43001342	1252	9002										
TPX2	22974	genome.wustl.edu	37	chr20	30385276	30385276	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtccaaacaccgtcatctctCaggagccctttgttcccaag	7	15	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:30385276C>G	ENST00000300403.6	+	16	2431	c.1903C>G	c.(1903-1905)Cag>Gag	p.Q635E	TPX2_ENST00000340513.4_Missense_Mutation_p.Q671E	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	635					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.Q635E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGTCATCTCTCAGGAGCCCTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											170	175	173					20																	30385276		2203	4300	6503	SO:0001583	missense	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1903C>G	20.37:g.30385276C>G	ENSP00000300403:p.Gln635Glu		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.Q671E	ENST00000300403.6	37	c.2011	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852004	0.71719	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.28666	1.6	5.93	5.93	0.95920	.	0.056612	0.64402	D	0.000001	T	0.50769	0.1635	L	0.55481	1.735	0.49299	D	0.999775	D;D	0.65815	0.982;0.995	D;D	0.72625	0.952;0.978	T	0.16778	-1.0391	10	0.17832	T	0.49	-15.0415	19.3291	0.94278	0.0:1.0:0.0:0.0	.	671;635	Q96RR5;Q9ULW0	.;TPX2_HUMAN	E	635;671	ENSP00000341145:Q671E	ENSP00000300403:Q635E	Q	+	1	0	TPX2	29848937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.814000	0.96858	0.655000	0.94253	CAG	TPX2	-	NULL		0.458	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	C			30385276	1	no_errors	ENST00000340513	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30385276	C	G	30385276	3	3	58	1	0	0	0	0	1	0	0	0	16463	827	29	1	1957	1	TPX2	20	30385276	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	10361098	30385276	32640244	1253	9003										
C20orf134	170487	genome.wustl.edu	37	chr20	32256027	32256027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggctccaggctgctgtacGatgtgttcaactgagtcagg	14	9	2	1	rs370919410		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:32256027G>A	ENST00000330271.4	+	1	1724	c.724G>A	c.(724-726)Gat>Aat	p.D242N	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	242								p.D242N(2)									GCTGCTGTACGATGTGTTCAA	0.612											OREG0025871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	cervix(2)											28	32	31					20																	32256027		2197	4294	6491	SO:0001583	missense	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 134"	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.724G>A	20.37:g.32256027G>A	ENSP00000329647:p.Asp242Asn	831	B9EH76	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.D242N	ENST00000330271.4	37	c.724	CCDS33463.1	20	.	.	.	.	.	.	.	.	.	.	g	14.50	2.553575	0.45487	.	.	ENSG00000182584	ENST00000330271	T	0.08008	3.14	4.59	2.61	0.31194	.	0.508572	0.16439	N	0.214390	T	0.03095	0.0091	N	0.01874	-0.695	0.25607	N	0.986531	B	0.28801	0.223	B	0.25759	0.063	T	0.38134	-0.9675	10	0.87932	D	0	-0.0029	6.9313	0.24444	0.0954:0.1772:0.7274:0.0	.	242	Q5JWF8	CT134_HUMAN	N	242	ENSP00000329647:D242N	ENSP00000329647:D242N	D	+	1	0	C20orf134	31719688	0.080000	0.21391	0.906000	0.35671	0.719000	0.41307	0.394000	0.20834	0.544000	0.28883	0.457000	0.33378	GAT	ACTL10	-	smart_Actin-like		0.612	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ACTL10	HGNC	protein_coding	OTTHUMT00000078713.1	G			32256027	1	no_errors	ENST00000330271	ensembl	human	putative	70_37	missense	SNP	0.868	A	A	32256027	G	A	32256027	3	1	58	1	0	0	0	0	1	0	0	0	2092	1058	37	1	726	1	C20orf134	20	32256027	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1870751	32256027	30769493	1254	9004										
MAP1LC3A	84557	genome.wustl.edu	37	chr20	33147542	33147542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctctcccgccggctgcaggcGccgcctgcagctgaacccca	11	20	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:33147542G>A	ENST00000360668.3	+	4	967	c.206G>A	c.(205-207)cGc>cAc	p.R69H	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R73H|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R69H			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	69					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)	p.R73H(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GGCTGCAGGCGCCGCCTGCAG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											29	38	35					20																	33147542		2193	4288	6481	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.206G>A	20.37:g.33147542G>A	ENSP00000353886:p.Arg69His		E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.R69H	ENST00000360668.3	37	c.206	CCDS13238.1	20	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883492	0.91740	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.50548	0.74;0.74;0.74	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	M	0.74881	2.28	0.80722	D	1	P;D	0.71674	0.653;0.998	B;P	0.57324	0.388;0.818	T	0.70952	-0.4732	10	0.87932	D	0	-7.2771	18.3968	0.90502	0.0:0.0:1.0:0.0	.	69;73	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	73;69;69	ENSP00000363970:R73H;ENSP00000353886:R69H;ENSP00000380821:R69H	ENSP00000353886:R69H	R	+	2	0	MAP1LC3A	32611203	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC	MAP1LC3A	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.632	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3A	HGNC	protein_coding	OTTHUMT00000078801.2	G	NM_181509		33147542	1	no_errors	ENST00000360668	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33147542	G	A	33147542	3	1	58	1	0	0	0	0	1	0	0	0	9253	1087	38	2	276	2	MAP1LC3A	20	33147542	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	891515	33147542	29877978	1255	9005										
ACSS2	55902	genome.wustl.edu	37	chr20	33500927	33500927	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgagccaggggagaccactCagatcacataccatcagctt	9	12	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:33500927C>G	ENST00000360596.2	+	3	614	c.403C>G	c.(403-405)Cag>Gag	p.Q135E	ACSS2_ENST00000253382.5_Missense_Mutation_p.Q135E|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q85E	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	135					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.Q135E(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGAGACCACTCAGATCACATA	0.512																																																	2	Substitution - Missense(2)	cervix(2)											171	159	163					20																	33500927		2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.403C>G	20.37:g.33500927C>G	ENSP00000353804:p.Gln135Glu		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.Q135E	ENST00000360596.2	37	c.403	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166714	0.21621	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T;T	0.39787	1.46;1.46;1.46;1.46;1.06;1.06;1.46	5.34	4.37	0.52481	.	0.521987	0.21841	N	0.068327	T	0.22044	0.0531	N	0.12569	0.235	0.21740	N	0.999568	B;B	0.09022	0.002;0.0	B;B	0.14023	0.01;0.002	T	0.12656	-1.0539	10	0.24483	T	0.36	-10.0122	6.8156	0.23829	0.4095:0.5077:0.0:0.0828	.	135;135	Q5QPH3;Q9NR19	.;ACSA_HUMAN	E	85;85;135;135;127;153;148;135	ENSP00000417783:Q85E;ENSP00000337190:Q85E;ENSP00000353804:Q135E;ENSP00000419167:Q127E;ENSP00000418812:Q153E;ENSP00000419925:Q148E;ENSP00000253382:Q135E	ENSP00000253382:Q135E	Q	+	1	0	ACSS2	32964588	0.062000	0.20869	0.999000	0.59377	0.977000	0.68977	0.754000	0.26390	1.418000	0.47098	0.655000	0.94253	CAG	ACSS2	-	tigrfam_Ac_CoA_lig		0.512	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	C	NM_018677		33500927	1	no_errors	ENST00000360596	ensembl	human	known	70_37	missense	SNP	0.988	G	G	33500927	C	G	33500927	3	3	58	1	0	0	0	0	1	0	0	0	189	827	29	1	413	1	ACSS2	20	33500927	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	353385	33500927	29524593	1256	9006										
GDF5	8200	genome.wustl.edu	37	chr20	34022041	34022041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccttaaggttcttgctgggtCgcttgccctggcgagtggcc	14	12	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:34022041C>T	ENST00000374372.1	-	4	1675	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	GDF5_ENST00000374369.3_Missense_Mutation_p.R391Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R29C			P43026	GDF5_HUMAN	growth differentiation factor 5	391					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.R29C(2)|p.R391Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTTGCTGGGTCGCTTGCCCTG	0.597																																																	3	Substitution - Missense(3)	cervix(3)											92	91	91					20																	34022041		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1172G>A	20.37:g.34022041C>T	ENSP00000363492:p.Arg391Gln		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R391Q	ENST00000374372.1	37	c.1172	CCDS13254.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.267256|3.267256	0.59540|0.59540	.|.	.|.	ENSG00000204183|ENSG00000125965	ENST00000374375|ENST00000374369;ENST00000374372	.|D;D	.|0.81499	.|-1.5;-1.5	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Transforming growth factor-beta, C-terminal (1);	0.132843|0.132843	0.48767|0.48767	D|D	0.000180|0.000180	T|T	0.80654|0.80654	0.4664|0.4664	L|L	0.29908|0.29908	0.895|0.895	0.41091|0.41091	D|D	0.985595|0.985595	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.56563	.|0.801;0.753	T|T	0.79754|0.79754	-0.1670|-0.1670	7|10	0.87932|0.30854	D|T	0|0.27	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|391;391	.|F1T0J1;P43026	.|.;GDF5_HUMAN	C|Q	29|391	.|ENSP00000363489:R391Q;ENSP00000363492:R391Q	ENSP00000363495:R29C|ENSP00000363489:R391Q	R|R	+|-	1|2	0|0	GDF5OS|GDF5	33485455|33485455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.090000|5.090000	0.64498|0.64498	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	CGC|CGA	GDF5	-	NULL		0.597	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	C			34022041	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34022041	C	T	34022041	3	4	58	1	0	0	0	0	1	0	0	0	6335	884	31	1	337	1	GDF5	20	34022041	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	521114	34022041	29003479	1257	9007										
ROMO1	140823	genome.wustl.edu	37	chr20	34287611	34287611	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaagctgcttcgaccgtgtCaaaatgggcttcgtgatggg	13	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:34287611C>T	ENST00000374078.1	+	2	237	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ROMO1_ENST00000374072.1_Silent_p.V19V|NFS1_ENST00000540053.1_5'Flank|ROMO1_ENST00000336695.4_Silent_p.V19V|NFS1_ENST00000541387.1_5'Flank|ROMO1_ENST00000397416.1_Silent_p.V19V|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000374077.3_Silent_p.V19V|NFS1_ENST00000397425.1_5'Flank|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374092.4_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	19					cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.V19V(1)		cervix(1)	1						TCGACCGTGTCAAAATGGGCT	0.667											OREG0004048	type=REGULATORY REGION|Gene=NFS1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - coding silent(1)	cervix(1)											101	104	103					20																	34287611		2203	4300	6503	SO:0001819	synonymous_variant	140823			AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"mitochondrial targeting GXXXG protein"		"chromosome 20 open reading frame 52"	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.57C>T	20.37:g.34287611C>T		846	A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Silent	SNP	pfam_Romo1	p.V19	ENST00000374078.1	37	c.57	CCDS13264.1	20																																																																																			ROMO1	-	pfam_Romo1		0.667	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROMO1	HGNC	protein_coding	OTTHUMT00000126404.1	C	NM_080748		34287611	1	no_errors	ENST00000336695	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34287611	C	T	34287611	2	4	58	1	0	0	0	0	0	0	0	1	13552	813	29	1		1	ROMO1	20	34287611	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	265570	34287611	28737909	1258	9008										
C20orf152	140894	genome.wustl.edu	37	chr20	34572654	34572654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttctttgctaataagctgGaccaggaagttcagaaggat	10	7	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:34572654G>A	ENST00000373973.3	+	6	843	c.670G>A	c.(670-672)Gac>Aac	p.D224N	CNBD2_ENST00000538900.1_Missense_Mutation_p.D224N|CNBD2_ENST00000349339.1_Missense_Mutation_p.D224N			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	224								p.D224N(1)									TAATAAGCTGGACCAGGAAGT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											195	178	184					20																	34572654		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.670G>A	20.37:g.34572654G>A	ENSP00000363084:p.Asp224Asn		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D224N	ENST00000373973.3	37	c.670		20	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522822	0.64747	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.12984	2.63;2.63;2.63	4.98	4.03	0.46877	Cyclic nucleotide-binding-like (1);Cyclic nucleotide-binding domain (1);	0.234856	0.35407	N	0.003234	T	0.27205	0.0667	M	0.69823	2.125	0.30419	N	0.778323	P;D	0.65815	0.944;0.995	P;P	0.60949	0.663;0.881	T	0.10520	-1.0626	10	0.11182	T	0.66	-8.5255	11.2401	0.48964	0.0894:0.0:0.9105:0.0	.	224;224	Q96M20;Q96M20-2	CT152_HUMAN;.	N	224	ENSP00000363084:D224N;ENSP00000340954:D224N;ENSP00000442729:D224N	ENSP00000340954:D224N	D	+	1	0	C20orf152	34036068	1.000000	0.71417	0.209000	0.23619	0.593000	0.36681	3.066000	0.50002	1.228000	0.43614	0.655000	0.94253	GAC	CNBD2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.453	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34572654	1	no_errors	ENST00000373973	ensembl	human	known	70_37	missense	SNP	0.999	A	A	34572654	G	A	34572654	3	1	58	1	0	0	0	0	1	0	0	0	2097	1174	41	1	692	1	C20orf152	20	34572654	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	285043	34572654	28452866	1259	9009										
DLGAP4	22839	genome.wustl.edu	37	chr20	35060247	35060247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccacggaggccttcgcccgcGaggcccgcttccccgggcag	14	19	0	0	rs369666332		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:35060247G>A	ENST00000373907.2	+	2	326	c.127G>A	c.(127-129)Gag>Aag	p.E43K	DLGAP4_ENST00000339266.5_Missense_Mutation_p.E43K|DLGAP4_ENST00000373913.3_Missense_Mutation_p.E43K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E43K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	43					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.E43K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCGCCCGCGAGGCCCGCTT	0.687																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU	0,4406		0,0,2203	37	40	39		127	5.7	0.9	20		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLGAP4	NM_014902.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	43/990	35060247	1,13005	2203	4300	6503	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.127G>A	20.37:g.35060247G>A	ENSP00000363014:p.Glu43Lys		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.E43K	ENST00000373907.2	37	c.127		20	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214459	0.58452	0.0	1.16E-4	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.67	5.67	0.87782	.	0.284770	0.40554	N	0.001069	T	0.39600	0.1084	L	0.61218	1.895	0.52501	D	0.99995	P	0.51791	0.948	B	0.33890	0.172	T	0.48375	-0.9041	10	0.49607	T	0.09	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	43	Q9Y2H0-1	.	K	43	ENSP00000363023:E43K;ENSP00000384954:E43K;ENSP00000363014:E43K;ENSP00000341633:E43K	ENSP00000341633:E43K	E	+	1	0	DLGAP4	34493661	1.000000	0.71417	0.948000	0.38648	0.528000	0.34623	5.678000	0.68153	2.677000	0.91161	0.561000	0.74099	GAG	DLGAP4	-	NULL		0.687	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35060247	1	no_errors	ENST00000339266	ensembl	human	known	70_37	missense	SNP	0.999	A	A	35060247	G	A	35060247	3	1	58	1	0	0	0	0	1	0	0	0	4572	1059	37	1	129	1	DLGAP4	20	35060247	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	487593	35060247	27965273	1260	9010										
PLCG1	5335	genome.wustl.edu	37	chr20	39794458	39794458	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcgtgggcgactacacgctCtctttctggtaacacttccc	8	14	2	0	rs555840839		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:39794458C>G	ENST00000373271.1	+	16	2196	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	PLCG1_ENST00000244007.3_Silent_p.L597L|PLCG1_ENST00000373272.2_Silent_p.L597L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	597	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.L597L(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACTACACGCTCTCTTTCTGGT	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		21099	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)											59	53	55					20																	39794458		2203	4300	6503	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1791C>G	20.37:g.39794458C>G			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.L597	ENST00000373271.1	37	c.1791	CCDS13314.1	20																																																																																			PLCG1	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2		0.527	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	C	NM_182811		39794458	1	no_errors	ENST00000244007	ensembl	human	known	70_37	silent	SNP	0.488	G	G	39794458	C	G	39794458	2	3	58	1	0	0	0	0	0	0	0	1	12059	900	32	1		1	PLCG1	20	39794458	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4734211	39794458	23231062	1261	9011										
CHD6	84181	genome.wustl.edu	37	chr20	40033628	40033628	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acctggaccaggcttgtcctCagctaaagtgtctgttttca	9	11	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:40033628C>T	ENST00000373233.3	-	37	7930	c.7753G>A	c.(7753-7755)Gag>Aag	p.E2585K	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2585					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E2585K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCTTGTCCTCAGCTAAAGTG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											158	160	160					20																	40033628		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7753G>A	20.37:g.40033628C>T	ENSP00000362330:p.Glu2585Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2585K	ENST00000373233.3	37	c.7753	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503558	0.44558	.	.	ENSG00000124177	ENST00000373233	D	0.86432	-2.12	5.46	5.46	0.80206	.	0.097385	0.45361	D	0.000379	T	0.81513	0.4838	L	0.40543	1.245	0.80722	D	1	B	0.27559	0.181	B	0.21708	0.036	T	0.76796	-0.2827	10	0.30854	T	0.27	-10.8648	14.3604	0.66768	0.1477:0.8522:0.0:0.0	.	2585	Q8TD26	CHD6_HUMAN	K	2585	ENSP00000362330:E2585K	ENSP00000362330:E2585K	E	-	1	0	CHD6	39467042	0.998000	0.40836	0.942000	0.38095	0.802000	0.45316	3.379000	0.52440	2.840000	0.97914	0.655000	0.94253	GAG	CHD6	-	NULL		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40033628	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	0.991	T	T	40033628	C	T	40033628	3	4	58	1	0	0	0	0	1	0	0	0	3334	835	29	1	398	1	CHD6	20	40033628	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	239170	40033628	22991892	1262	9012										
RIMS4	140730	genome.wustl.edu	37	chr20	43438835	43438835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctgcgtcctcgtcgtcgaaGgagttcatgcacgggaagta	13	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:43438835G>A	ENST00000372851.3	-	1	144	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RIMS4_ENST00000541604.2_Silent_p.S26S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	26					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.S26S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CGTCGTCGAAGGAGTTCATGC	0.741																																																	1	Substitution - coding silent(1)	cervix(1)											12	12	12					20																	43438835		2193	4283	6476	SO:0001819	synonymous_variant	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.78C>T	20.37:g.43438835G>A			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S26	ENST00000372851.3	37	c.78	CCDS13338.1	20																																																																																			RIMS4	-	NULL		0.741	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	G	NM_182970		43438835	-1	no_errors	ENST00000541604	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43438835	G	A	43438835	2	1	58	1	0	0	0	0	0	0	0	1	13400	987	35	4		4	RIMS4	20	43438835	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3405207	43438835	19586685	1263	9013										
SYS1	90196	genome.wustl.edu	37	chr20	43995671	43995671	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caagccgtgtgcattgcactCatggctgtcatcggggagta	13	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:43995671C>T	ENST00000243918.5	+	4	678	c.387C>T	c.(385-387)ctC>ctT	p.L129L	SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000372727.1_Silent_p.L129L|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000414310.1_Silent_p.L108L	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	129					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.L129L(1)		cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCATTGCACTCATGGCTGTCA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											127	112	117					20																	43995671		2203	4300	6503	SO:0001819	synonymous_variant	90196			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"chromosome 20 open reading frame 169", "SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.387C>T	20.37:g.43995671C>T			C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Silent	SNP	pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1	p.L129	ENST00000243918.5	37	c.387	CCDS13351.1	20																																																																																			SYS1	-	pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1		0.567	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYS1	HGNC	protein_coding	OTTHUMT00000079453.2	C	NM_033542		43995671	1	no_errors	ENST00000243918	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43995671	C	T	43995671	2	4	58	1	0	0	0	0	0	0	0	1	15494	813	29	1		1	SYS1	20	43995671	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	556836	43995671	19029849	1264	9014										
SLC35C2	51006	genome.wustl.edu	37	chr20	44980847	44980847	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggaaacggaagattttctcaGatgtggacaaatggagacct	12	6	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:44980847G>C	ENST00000372227.1	-	8	1220	c.680C>G	c.(679-681)tCt>tGt	p.S227C	SLC35C2_ENST00000543605.1_Missense_Mutation_p.S256C|SLC35C2_ENST00000243896.2_Missense_Mutation_p.S227C|SLC35C2_ENST00000317734.8_Missense_Mutation_p.S206C|SLC35C2_ENST00000372230.5_Missense_Mutation_p.S227C|SLC35C2_ENST00000372229.1_Missense_Mutation_p.S94C|SLC35C2_ENST00000493599.1_5'UTR	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	227					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S227C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GATTTTCTCAGATGTGGACAA	0.572																																																	1	Substitution - Missense(1)	cervix(1)											77	82	80					20																	44980847		2203	4300	6503	SO:0001583	missense	51006				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"Solute carriers"	17117	protein-coding gene	gene with protein product			"ovarian cancer overexpressed 1", "solute carrier family 35, member C2"	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.680C>G	20.37:g.44980847G>C	ENSP00000361301:p.Ser227Cys		B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA	p.S256C	ENST00000372227.1	37	c.767	CCDS13396.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.578250|4.578250	0.86645|0.86645	.|.	.|.	ENSG00000080189|ENSG00000080189	ENST00000420518|ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	.|T;T;T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.93|4.93	4.93|4.93	0.64822|0.64822	.|Domain of unknown function DUF250 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80665|0.80665	0.4666|0.4666	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.998;1.0	.|D;D;D;D	.|0.77004	.|0.957;0.989;0.951;0.979	T|T	0.82343|0.82343	-0.0504|-0.0504	6|10	0.87932|0.51188	D|T	0|0.08	-8.0513|-8.0513	17.3887|17.3887	0.87424|0.87424	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|256;92;206;227	.|F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.|.;.;.;S35C2_HUMAN	V|C	182|206;227;227;94;227;95;256	.|ENSP00000318960:S206C;ENSP00000243896:S227C;ENSP00000361301:S227C;ENSP00000361303:S94C;ENSP00000361304:S227C;ENSP00000439974:S256C	ENSP00000397142:L182V|ENSP00000243896:S227C	L|S	-|-	1|2	2|0	SLC35C2|SLC35C2	44414254|44414254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.401000|9.401000	0.97294|0.97294	2.561000|2.561000	0.86390|0.86390	0.650000|0.650000	0.86243|0.86243	CTG|TCT	SLC35C2	-	pfam_DUF250,pfam_UAA		0.572	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35C2	HGNC	protein_coding	OTTHUMT00000080363.1	G	NM_015945		44980847	-1	no_errors	ENST00000543605	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44980847	G	C	44980847	3	2	58	1	0	0	0	0	1	0	0	0	14610	942	33	1	429	1	SLC35C2	20	44980847	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	985176	44980847	18044673	1265	9015										
ZNF334	55713	genome.wustl.edu	37	chr20	45131502	45131502	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtatccatcaggaatctttCtgttttctttgcttttcttt	5	8	5	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:45131502C>T	ENST00000347606.4	-	5	658	c.476G>A	c.(475-477)aGa>aAa	p.R159K	ZNF334_ENST00000457685.2_Missense_Mutation_p.R121K|ZNF334_ENST00000593880.1_Missense_Mutation_p.R182K	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R159K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGAATCTTTCTGTTTTCTTT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											110	99	103					20																	45131502		2203	4300	6503	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.476G>A	20.37:g.45131502C>T	ENSP00000255129:p.Arg159Lys		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R159K	ENST00000347606.4	37	c.476	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	C	1.016	-0.686338	0.03328	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.06768	3.51;3.26	2.73	-5.45	0.02616	.	.	.	.	.	T	0.02193	0.0068	N	0.01789	-0.72	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.42430	-0.9452	9	0.12430	T	0.62	.	5.3214	0.15883	0.1213:0.5375:0.202:0.1393	.	121;159;182	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	K	121;159	ENSP00000402582:R121K;ENSP00000255129:R159K	ENSP00000255129:R159K	R	-	2	0	ZNF334	44564909	0.000000	0.05858	0.000000	0.03702	0.657000	0.38888	-0.219000	0.09228	-2.291000	0.00666	-0.469000	0.05056	AGA	ZNF334	-	NULL		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	C			45131502	-1	no_errors	ENST00000347606	ensembl	human	known	70_37	missense	SNP	0.000	T	T	45131502	C	T	45131502	3	4	58	1	0	0	0	0	1	0	0	0	17881	913	32	1	1570	1	ZNF334	20	45131502	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	150655	45131502	17894018	1266	9016										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47649562	47649562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tttctctcccacctcaagttCaaagcacatgcttcaatgta	4	13	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:47649562C>G	ENST00000371917.4	+	39	5184	c.5184C>G	c.(5182-5184)ttC>ttG	p.F1728L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1728					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.F1728L(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACCTCAAGTTCAAAGCACATG	0.403																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												1	Substitution - Missense(1)	cervix(1)											70	63	65					20																	47649562		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5184C>G	20.37:g.47649562C>G	ENSP00000360985:p.Phe1728Leu		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.F1728L	ENST00000371917.4	37	c.5184	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231076	0.58777	.	.	ENSG00000124198	ENST00000371917	T	0.61040	0.14	5.66	4.63	0.57726	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.80183	2.485	0.80722	D	1	B	0.27971	0.196	B	0.23574	0.047	T	0.55042	-0.8202	10	0.41790	T	0.15	.	6.204	0.20591	0.0:0.4452:0.0:0.5548	.	1728	Q9Y6D5	BIG2_HUMAN	L	1728	ENSP00000360985:F1728L	ENSP00000360985:F1728L	F	+	3	2	ARFGEF2	47082969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.690000	0.25451	1.199000	0.43173	0.655000	0.94253	TTC	ARFGEF2	-	superfamily_ARM-type_fold		0.403	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	C	NM_006420		47649562	1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47649562	C	G	47649562	3	3	58	1	0	0	0	0	1	0	0	0	853	825	29	1	5338	1	ARFGEF2	20	47649562	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2518060	47649562	15375958	1267	9017										
CSE1L	1434	genome.wustl.edu	37	chr20	47691354	47691354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagcatttgaagataattctGaggagtacataaggagagat	11	3	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:47691354G>C	ENST00000262982.2	+	11	1222	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CSE1L_ENST00000542325.1_Missense_Mutation_p.E150Q|CSE1L_ENST00000396192.3_Missense_Mutation_p.E311Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	367					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.E367Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGATAATTCTGAGGAGTACAT	0.388																																																	1	Substitution - Missense(1)	cervix(1)											183	167	173					20																	47691354		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1099G>C	20.37:g.47691354G>C	ENSP00000262982:p.Glu367Gln		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E367Q	ENST00000262982.2	37	c.1099	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.116571	0.94385	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.70399	-0.48;-0.48;-0.48	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.64997	1.995	0.80722	D	1	D;D;P;D;D	0.89917	0.982;1.0;0.489;0.991;1.0	P;D;P;D;D	0.85130	0.793;0.997;0.474;0.965;0.997	T	0.78568	-0.2154	10	0.28530	T	0.3	-15.3025	17.6733	0.88224	0.0:0.0:1.0:0.0	.	56;150;311;311;367	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	Q	367;150;311	ENSP00000262982:E367Q;ENSP00000446477:E150Q;ENSP00000379495:E311Q	ENSP00000262982:E367Q	E	+	1	0	CSE1L	47124761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.326000	0.96389	2.622000	0.88805	0.655000	0.94253	GAG	CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.388	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47691354	1	no_errors	ENST00000262982	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47691354	G	C	47691354	3	2	58	1	0	0	0	0	1	0	0	0	3935	1291	45	1	1137	1	CSE1L	20	47691354	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	41792	47691354	15334166	1268	9018										
ZNFX1	57169	genome.wustl.edu	37	chr20	47870271	47870271	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtggcaatggtatgggcctCaaggacttccgcagcttctt	12	10	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:47870271C>G	ENST00000396105.1	-	11	3283	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1013Q|ZNFX1_ENST00000371754.4_Missense_Mutation_p.E1013Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1013							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E1013Q(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTATGGGCCTCAAGGACTTCC	0.517																																																	2	Substitution - Missense(2)	cervix(2)											248	223	232					20																	47870271		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3037G>C	20.37:g.47870271C>G	ENSP00000379412:p.Glu1013Gln		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.E1013Q	ENST00000396105.1	37	c.3037	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.281630	0.95489	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;D;D	0.88124	2.38;-2.34;-2.34	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94291	0.7528	10	0.87932	D	0	-27.3172	18.9229	0.92532	0.0:1.0:0.0:0.0	.	1013	Q9P2E3	ZNFX1_HUMAN	Q	1013	ENSP00000360819:E1013Q;ENSP00000360817:E1013Q;ENSP00000379412:E1013Q	ENSP00000360817:E1013Q	E	-	1	0	ZNFX1	47303678	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.717000	0.84732	2.816000	0.96949	0.561000	0.74099	GAG	ZNFX1	-	NULL		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	C	NM_021035		47870271	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47870271	C	G	47870271	3	3	58	1	0	0	0	0	1	0	0	0	18235	835	29	1	2735	1	ZNFX1	20	47870271	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	178917	47870271	15155249	1269	9019										
TSHZ2	128553	genome.wustl.edu	37	chr20	51872272	51872272	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtccaggcgctacctgtttGagaacagcgatcagcccatt	10	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:51872272G>C	ENST00000371497.5	+	2	3162	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E756Q|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E756Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	759					multicellular organismal development (GO:0007275)|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.E759Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACCTGTTTGAGAACAGCGA	0.522																																																	1	Substitution - Missense(1)	cervix(1)											94	92	93					20																	51872272		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2275G>C	20.37:g.51872272G>C	ENSP00000360552:p.Glu759Gln		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E759Q	ENST00000371497.5	37	c.2275	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022781	0.35701	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.45276	0.9;0.9	5.23	5.23	0.72850	.	0.235115	0.43260	D	0.000583	T	0.40956	0.1138	L	0.60455	1.87	0.37794	D	0.927478	P	0.38335	0.627	B	0.32022	0.139	T	0.49872	-0.8893	10	0.44086	T	0.13	-10.7788	18.8062	0.92038	0.0:0.0:1.0:0.0	.	759	Q9NRE2	TSH2_HUMAN	Q	759;756;285	ENSP00000360552:E759Q;ENSP00000333114:E756Q	ENSP00000333114:E756Q	E	+	1	0	TSHZ2	51305679	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.298000	0.78815	2.438000	0.82558	0.579000	0.79373	GAG	TSHZ2	-	NULL		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	G	NM_173485		51872272	1	no_errors	ENST00000371497	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51872272	G	C	51872272	3	2	58	1	0	0	0	0	1	0	0	0	16655	1291	45	1	2281	1	TSHZ2	20	51872272	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4002001	51872272	11153248	1270	9020										
DOK5	55816	genome.wustl.edu	37	chr20	53226988	53226988	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gagacggggaggccatctatCagaaagtccactctgctgcc	12	12	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:53226988C>G	ENST00000262593.5	+	6	1011	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	DOK5_ENST00000395939.1_Missense_Mutation_p.Q113E	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	221	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.Q221E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GGCCATCTATCAGAAAGTCCA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											84	75	78					20																	53226988		2203	4300	6503	SO:0001583	missense	55816			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.661C>G	20.37:g.53226988C>G	ENSP00000262593:p.Gln221Glu		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.Q221E	ENST00000262593.5	37	c.661	CCDS13446.1	20	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754038	0.69648	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.72835	-0.69;-0.69	5.78	5.78	0.91487	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.108796	0.64402	D	0.000004	T	0.66499	0.2795	L	0.43923	1.385	0.51012	D	0.999902	B;B	0.21071	0.051;0.046	B;B	0.21151	0.033;0.014	T	0.60094	-0.7330	10	0.37606	T	0.19	-21.1277	19.0159	0.92894	0.0:1.0:0.0:0.0	.	113;221	Q9P104-2;Q9P104	.;DOK5_HUMAN	E	221;113	ENSP00000262593:Q221E;ENSP00000379270:Q113E	ENSP00000262593:Q221E	Q	+	1	0	DOK5	52660395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	2.732000	0.93576	0.655000	0.94253	CAG	DOK5	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.488	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	C			53226988	1	no_errors	ENST00000262593	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53226988	C	G	53226988	3	3	58	1	0	0	0	0	1	0	0	0	4710	827	29	1	683	1	DOK5	20	53226988	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1354716	53226988	9798532	1271	9021										
AURKA	116151	genome.wustl.edu	37	chr20	54945266	54945266	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcaatttgatggttttgatGaatttgctgtgatccagggg	14	4	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:54945266G>A	ENST00000371384.3	+	0	3046				AURKA_ENST00000395911.1_Missense_Mutation_p.S387L|AURKA_ENST00000312783.6_Missense_Mutation_p.S387L|AURKA_ENST00000395915.3_Missense_Mutation_p.S387L|AURKA_ENST00000371356.2_Missense_Mutation_p.S387L|AURKA_ENST00000395914.1_Missense_Mutation_p.S387L|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000347343.2_Missense_Mutation_p.S387L|AURKA_ENST00000395913.3_Missense_Mutation_p.S387L|AURKA_ENST00000395909.4_Missense_Mutation_p.S387L	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)		p.S387L(1)									TGGTTTTGATGAATTTGCTGT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											206	179	188					20																	54945266		2203	4300	6503	SO:0001628	intergenic_variant	6790			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945266G>A			B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	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.S387L	ENST00000371384.3	37	c.1160	CCDS13450.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079175	0.76528	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000006	T	0.48642	0.1511	N	0.11845	0.185	0.58432	D	0.999997	B;P;P	0.49635	0.047;0.926;0.722	B;B;B	0.35607	0.026;0.206;0.206	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.4678	19.2213	0.93797	0.0:0.0:1.0:0.0	.	319;387;387	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	L	387	ENSP00000379245:S387L;ENSP00000379250:S387L;ENSP00000216911:S387L;ENSP00000379251:S387L;ENSP00000321591:S387L;ENSP00000360407:S387L;ENSP00000379249:S387L;ENSP00000379247:S387L	ENSP00000321591:S387L	S	-	2	0	AURKA	54378673	1.000000	0.71417	0.159000	0.22649	0.960000	0.62799	8.397000	0.90193	2.615000	0.88500	0.650000	0.86243	TCA	AURKA	-	NULL		0.473	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079800.2	G	NM_080821		54945266	-1	no_errors	ENST00000312783	ensembl	human	known	70_37	missense	SNP	0.975	A	A	54945266	G	A	54945266	1	1	58	0	1	0	0	0	0	0	0	0	1222	1294	45	1		1	AURKA	20	54945266	IGR	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1718278	54945266	8080254	1272	9022										
C20orf107	388799	genome.wustl.edu	37	chr20	55108465	55108465	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagctatgcctttatgttctCttctctgagacagaaaacta	6	10	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:55108465C>T	ENST00000371325.1	+	1	164	c.68C>T	c.(67-69)tCt>tTt	p.S23F		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	23						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S23F(1)|p.S23C(1)									TTTATGTTCTCTTCTCTGAGA	0.552																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											101	92	95					20																	55108465		2203	4298	6501	SO:0001583	missense	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.68C>T	20.37:g.55108465C>T	ENSP00000360376:p.Ser23Phe		Q3KRB5	Missense_Mutation	SNP	NULL	p.S23F	ENST00000371325.1	37	c.68	CCDS33494.1	20	.	.	.	.	.	.	.	.	.	.	C	6.715	0.500593	0.12822	.	.	ENSG00000213714	ENST00000371325	T	0.13420	2.59	2.82	2.82	0.32997	.	0.000000	0.48767	D	0.000162	T	0.30039	0.0752	M	0.64404	1.975	0.34257	D	0.679475	D	0.76494	0.999	D	0.83275	0.996	T	0.41395	-0.9511	10	0.66056	D	0.02	-25.8513	9.1817	0.37146	0.0:1.0:0.0:0.0	.	23	Q5JX69	CT107_HUMAN	F	23	ENSP00000360376:S23F	ENSP00000360376:S23F	S	+	2	0	C20orf107	54541872	0.130000	0.22417	0.519000	0.27824	0.064000	0.16182	0.923000	0.28757	1.565000	0.49641	0.407000	0.27541	TCT	FAM209B	-	NULL		0.552	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209B	HGNC	protein_coding	OTTHUMT00000079816.1	C			55108465	1	no_errors	ENST00000371325	ensembl	human	known	70_37	missense	SNP	0.942	T	T	55108465	C	T	55108465	3	4	58	1	0	0	0	0	1	0	0	0	2082	913	32	1	70	1	C20orf107	20	55108465	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	163199	55108465	7917055	1273	9023										
CTSZ	1522	genome.wustl.edu	37	chr20	57570797	57570797	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taggtgctggtcacgatcctCagccagcctctctcgccctg	10	16	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:57570797C>T	ENST00000217131.5	-	6	937	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	273					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)	p.L273L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			TCACGATCCTCAGCCAGCCTC	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											119	88	99					20																	57570797		2203	4300	6503	SO:0001819	synonymous_variant	1522			AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"Cathepsins"	2547	protein-coding gene	gene with protein product	"cathepsin X", "carboxypeptidase LB", "cathepsin IV", "cathepsin B2", "cathepsin Y", "cathepsin Z1", "cysteine-type carboxypeptidase", "lysosomal carboxypeptidase B"	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.819G>A	20.37:g.57570797C>T			B2RC40|O75331|Q9UQV5|Q9UQV6	Silent	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.L273	ENST00000217131.5	37	c.819	CCDS13474.1	20																																																																																			CTSZ	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.617	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSZ	HGNC	protein_coding	OTTHUMT00000079899.1	C	NM_001336		57570797	-1	no_errors	ENST00000217131	ensembl	human	known	70_37	silent	SNP	0.997	T	T	57570797	C	T	57570797	2	4	58	1	0	0	0	0	0	0	0	1	4048	813	29	1		1	CTSZ	20	57570797	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2462332	57570797	5454723	1274	9024										
ZNF831	128611	genome.wustl.edu	37	chr20	57768813	57768813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcctgcagccccagccccCgcagagcacccctcgctggc	9	22	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:57768813C>T	ENST00000371030.2	+	1	2739	c.2739C>T	c.(2737-2739)ccC>ccT	p.P913P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	913							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P913P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCAGCCCCCGCAGAGCACC	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											29	32	31					20																	57768813		1940	4137	6077	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2739C>T	20.37:g.57768813C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P913	ENST00000371030.2	37	c.2739	CCDS42894.1	20																																																																																			ZNF831	-	NULL		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768813	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	silent	SNP	0.000	T	T	57768813	C	T	57768813	2	4	58	1	0	0	0	0	0	0	0	1	18215	639	23	2		2	ZNF831	20	57768813	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	198016	57768813	5256707	1275	9025										
TAF4	6874	genome.wustl.edu	37	chr20	60575694	60575694	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttagcgtgcccaccaattcaGagttcgtggctaatattctt	8	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:60575694G>C	ENST00000252996.4	-	10	2569	c.2570C>G	c.(2569-2571)tCt>tGt	p.S857C		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	857					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S857C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACCAATTCAGAGTTCGTGGC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											151	143	145					20																	60575694		2203	4300	6503	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2570C>G	20.37:g.60575694G>C	ENSP00000252996:p.Ser857Cys		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.S857C	ENST00000252996.4	37	c.2570	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354444	0.61293	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.29917	1.57;1.55	5.05	4.1	0.47936	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61608	-0.7028	10	0.87932	D	0	-10.9112	13.4623	0.61233	0.0763:0.0:0.9237:0.0	.	857	O00268	TAF4_HUMAN	C	857;721	ENSP00000252996:S857C;ENSP00000399091:S721C	ENSP00000252996:S857C	S	-	2	0	TAF4	60009089	1.000000	0.71417	0.886000	0.34754	0.386000	0.30323	9.449000	0.97603	1.111000	0.41721	-0.258000	0.10820	TCT	TAF4	-	pfam_TAF4		0.443	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	G	NM_003185		60575694	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60575694	G	C	60575694	3	2	58	1	0	0	0	0	1	0	0	0	15556	942	33	1	711	1	TAF4	20	60575694	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2806881	60575694	2449826	1276	9026										
ADRM1	11047	genome.wustl.edu	37	chr20	60881738	60881738	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagagcctgctgggaaacatGagccacagccagctcatgca	11	13	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:60881738G>A	ENST00000253003.2	+	5	535	c.489G>A	c.(487-489)atG>atA	p.M163I	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	163	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)	p.M163I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGAAACATGAGCCACAGCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											26	28	27					20																	60881738		2197	4293	6490	SO:0001583	missense	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.489G>A	20.37:g.60881738G>A	ENSP00000253003:p.Met163Ile		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.M163I	ENST00000253003.2	37	c.489	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	g	21.9	4.223113	0.79464	.	.	ENSG00000130706	ENST00000253003	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.72479	2.2	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.67647	-0.5617	9	0.54805	T	0.06	-16.4537	17.5498	0.87872	0.0:0.0:1.0:0.0	.	163	Q16186	ADRM1_HUMAN	I	163	.	ENSP00000253003:M163I	M	+	3	0	ADRM1	60315133	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.382000	0.79729	2.240000	0.73641	0.651000	0.88453	ATG	ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13		0.667	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	G			60881738	1	no_errors	ENST00000253003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	60881738	G	A	60881738	3	1	58	1	0	0	0	0	1	0	0	0	345	1290	45	1	503	1	ADRM1	20	60881738	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	306044	60881738	2143782	1277	9027										
KCNQ2	3785	genome.wustl.edu	37	chr20	62071057	62071057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cgtagccaatggtggtcagcGtgatctgtgggaccgcaggc	16	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:62071057G>A	ENST00000359125.2	-	6	995	c.821C>T	c.(820-822)aCg>aTg	p.T274M	KCNQ2_ENST00000344425.5_Missense_Mutation_p.T274M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.T274M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.T274M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.T274M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.T274M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.T274M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.T274M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	274					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T274M(3)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGTGGTCAGCGTGATCTGTGG	0.647																																																	3	Substitution - Missense(3)	cervix(2)|upper_aerodigestive_tract(1)											187	135	152					20																	62071057		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.821C>T	20.37:g.62071057G>A	ENSP00000352035:p.Thr274Met		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T274M	ENST00000359125.2	37	c.821	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087530	0.76642	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	4.01	4.01	0.46588	Ion transport (1);	0.061322	0.64402	D	0.000005	D	0.99507	0.9824	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.983;0.983;0.983;0.99	D	0.97777	1.0230	10	0.87932	D	0	-9.3763	16.4798	0.84155	0.0:0.0:1.0:0.0	.	274;274;274;274;274;274	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	274	ENSP00000349789:T274M;ENSP00000352035:T274M;ENSP00000359246:T274M;ENSP00000346601:T274M;ENSP00000352718:T274M;ENSP00000399612:T274M;ENSP00000353668:T274M;ENSP00000339611:T274M;ENSP00000359244:T274M;ENSP00000359242:T274M;ENSP00000359241:T274M;ENSP00000345523:T274M	ENSP00000345523:T274M	T	-	2	0	KCNQ2	61541501	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.672000	0.83956	1.908000	0.55244	0.561000	0.74099	ACG	KCNQ2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	G	NM_172109		62071057	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62071057	G	A	62071057	3	1	58	1	0	0	0	0	1	0	0	0	8103	1145	40	2	1909	2	KCNQ2	20	62071057	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1189319	62071057	954463	1278	9028										
PRIC285	85441	genome.wustl.edu	37	chr20	62198468	62198468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgagatgaagctgacaatgGcgtccgtgcagcggtagttc	15	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:62198468G>A	ENST00000467148.1	-	6	2312	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A179V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	748	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A748V(1)									GCTGACAATGGCGTCCGTGCA	0.657																																																	1	Substitution - Missense(1)	cervix(1)											66	63	64					20																	62198468		2202	4299	6501	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2243C>T	20.37:g.62198468G>A	ENSP00000417401:p.Ala748Val		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A748V	ENST00000467148.1	37	c.2243	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915104	0.52546	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82711	-1.64;-1.64	5.08	4.06	0.47325	.	0.653207	0.16215	N	0.224310	D	0.86506	0.5949	L	0.56124	1.755	0.36583	D	0.873685	D;B	0.61697	0.99;0.101	P;B	0.62491	0.903;0.131	D	0.86028	0.1511	10	0.30854	T	0.27	-31.4778	12.6028	0.56506	0.0:0.3748:0.6252:0.0	.	748;179	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	179;748	ENSP00000393257:A179V;ENSP00000417401:A748V	ENSP00000393257:A179V	A	-	2	0	RP4-697K14.7	61668912	1.000000	0.71417	0.427000	0.26684	0.009000	0.06853	3.216000	0.51176	2.385000	0.81259	0.561000	0.74099	GCC	HELZ2	-	NULL		0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62198468	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62198468	G	A	62198468	3	1	58	1	0	0	0	0	1	0	0	0	12512	1203	42	4	5762	4	PRIC285	20	62198468	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	127411	62198468	827052	1279	9029										
NCAM2	4685	genome.wustl.edu	37	chr21	22707864	22707864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaaatgagaagtacatattGaaagggagcaatacagaact	10	4	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:22707864G>C	ENST00000400546.1	+	7	1026	c.777G>C	c.(775-777)ttG>ttC	p.L259F	NCAM2_ENST00000535285.1_Missense_Mutation_p.L284F|NCAM2_ENST00000284894.7_Missense_Mutation_p.L117F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	259	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L259F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTACATATTGAAAGGGAGCA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											84	77	79					21																	22707864		1877	4104	5981	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.777G>C	21.37:g.22707864G>C	ENSP00000383392:p.Leu259Phe		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	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,prints_Neural_cell_adh	p.L259F	ENST00000400546.1	37	c.777	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	2.204	-0.382384	0.04966	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.68181	-0.31;-0.31;-0.31	5.32	3.49	0.39957	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.275753	0.37348	N	0.002136	T	0.58652	0.2137	N	0.13299	0.325	0.37635	D	0.921828	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.72625	0.978;0.965;0.76	T	0.60831	-0.7185	10	0.02654	T	1	-4.264	7.7466	0.28873	0.2633:0.0:0.7366:0.0	.	284;117;259	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	F	259;117;284	ENSP00000383392:L259F;ENSP00000284894:L117F;ENSP00000441887:L284F	ENSP00000284894:L117F	L	+	3	2	NCAM2	21629735	1.000000	0.71417	0.933000	0.37362	0.048000	0.14542	1.312000	0.33574	0.606000	0.29965	0.460000	0.39030	TTG	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	G	NM_004540		22707864	1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	0.994	C	C	22707864	G	C	22707864	3	2	58	1	0	0	0	0	1	0	0	0	10227	1281	45	1	803	1	NCAM2	21	22707864	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		22707864	25422031	1280	9030										
ATP5J	522	genome.wustl.edu	37	chr21	27102096	27102096	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggagaacctgaagagcctctGaagaatcatgctgattctgt	11	8	3	6			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:27102096G>A	ENST00000400093.3	-	2	701	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ATP5J_ENST00000284971.3_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000400094.1_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000457143.2_Nonsense_Mutation_p.Q12*|ATP5J_ENST00000400087.3_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000400090.3_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000400099.1_Nonsense_Mutation_p.Q4*	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	4					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.Q4*(2)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						AAGAGCCTCTGAAGAATCATG	0.383																																					Colon(101;404 1513 9184 32221 46005)												2	Substitution - Nonsense(2)	cervix(2)											44	44	44					21																	27102096		2203	4300	6503	SO:0001587	stop_gained	522			M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	847	protein-coding gene	gene with protein product	"coupling factor 6"	603152	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.10C>T	21.37:g.27102096G>A	ENSP00000382965:p.Gln4*		J3KQ83	Nonsense_Mutation	SNP	pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt	p.Q12*	ENST00000400093.3	37	c.34	CCDS13574.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.152635	0.94645	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	4.85	3.9	0.45041	.	0.206931	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-12.0512	14.0733	0.64874	0.0:0.0:0.8488:0.1512	.	.	.	.	X	4;4;4;12;4;4;4	.	ENSP00000284971:Q4X	Q	-	1	0	ATP5J	26023967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.449000	0.66619	2.687000	0.91594	0.563000	0.77884	CAG	ATP5J	-	pfam_ATPase_F0-cplx_f6su_mt		0.383	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP5J	HGNC	protein_coding	OTTHUMT00000171357.1	G	NM_001685		27102096	-1	no_errors	ENST00000457143	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27102096	G	A	27102096	4	1	58	1	0	0	0	0	0	1	0	0	1159	1299	45	1	328	1	ATP5J	21	27102096	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4394232	27102096	21027799	1281	9031										
GRIK1	2897	genome.wustl.edu	37	chr21	31045341	31045341	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggctgtttcatgtgaacaatCaaatatcacatagaactcct	6	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:31045341C>G	ENST00000399907.1	-	4	1099	c.688G>C	c.(688-690)Gat>Cat	p.D230H	GRIK1_ENST00000399909.1_Missense_Mutation_p.D230H|GRIK1_ENST00000327783.4_Missense_Mutation_p.D230H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.D230H|GRIK1_ENST00000399913.1_Missense_Mutation_p.D230H|GRIK1_ENST00000399914.1_Missense_Mutation_p.D230H|GRIK1_ENST00000389124.2_Missense_Mutation_p.D230H|GRIK1_ENST00000309434.7_Missense_Mutation_p.D230H|GRIK1_ENST00000535441.1_Missense_Mutation_p.D230H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	230					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D230H(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGTGAACAATCAAATATCACA	0.398																																																	2	Substitution - Missense(2)	cervix(2)											148	158	154					21																	31045341		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.688G>C	21.37:g.31045341C>G	ENSP00000382791:p.Asp230His		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D230H	ENST00000399907.1	37	c.688	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759515	0.89932	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;1.0;1.0	D	0.92069	0.5663	10	0.52906	T	0.07	.	19.0293	0.92948	0.0:1.0:0.0:0.0	.	230;230;230;230;230;230	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	H	230;230;230;230;230;174;230;230;230;230	ENSP00000327687:D230H;ENSP00000373777:D230H;ENSP00000382797:D230H;ENSP00000382798:D230H;ENSP00000446326:D230H;ENSP00000373776:D230H;ENSP00000382791:D230H;ENSP00000382793:D230H;ENSP00000311646:D230H	ENSP00000311646:D230H	D	-	1	0	GRIK1	29967212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.628000	0.83189	2.815000	0.96918	0.650000	0.86243	GAT	GRIK1	-	pfam_ANF_lig-bd_rcpt		0.398	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	C			31045341	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31045341	C	G	31045341	3	3	58	1	0	0	0	0	1	0	0	0	6793	826	29	1	2284	1	GRIK1	21	31045341	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3943245	31045341	17084554	1282	9032										
SON	6651	genome.wustl.edu	37	chr21	34925697	34925697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtaactgtcctggagccttCggttgtgactgtcccggagc	13	11	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:34925697C>T	ENST00000356577.4	+	3	4635	c.4160C>T	c.(4159-4161)tCg>tTg	p.S1387L	SON_ENST00000290239.6_Missense_Mutation_p.S1387L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1387L|SON_ENST00000300278.4_Missense_Mutation_p.S1387L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1387	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1387L(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGAGCCTTCGGTTGTGACT	0.557																																																	2	Substitution - Missense(2)	cervix(2)											80	73	75					21																	34925697		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4160C>T	21.37:g.34925697C>T	ENSP00000348984:p.Ser1387Leu		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.S1387L	ENST00000356577.4	37	c.4160	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.829863|1.829863	0.32329|0.32329	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.11821	.|2.95;2.94;2.93;2.74	5.68|5.68	1.53|1.53	0.23141|0.23141	.|.	.|1.520600	.|0.03714	.|N	.|0.250755	T|T	0.06554|0.06554	0.0168|0.0168	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.66056	.|D	.|0.02	.|.	2.2075|2.2075	0.03939|0.03939	0.1274:0.4798:0.1909:0.202|0.1274:0.4798:0.1909:0.202	.|.	.|1387;1387;1068;1387;1387	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	W|L	382|1387	.|ENSP00000348984:S1387L;ENSP00000290239:S1387L;ENSP00000300278:S1387L;ENSP00000371095:S1387L	.|ENSP00000290239:S1387L	R|S	+|+	1|2	2|0	SON|SON	33847567|33847567	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.010000|-0.010000	0.12743|0.12743	0.282000|0.282000	0.22254|0.22254	-0.192000|-0.192000	0.12808|0.12808	CGG|TCG	SON	-	NULL		0.557	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	C	NM_138927		34925697	1	no_errors	ENST00000356577	ensembl	human	known	70_37	missense	SNP	0.000	T	T	34925697	C	T	34925697	3	4	58	1	0	0	0	0	1	0	0	0	14956	893	31	1	4170	1	SON	21	34925697	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3880356	34925697	13204198	1283	9033										
ITSN1	6453	genome.wustl.edu	37	chr21	35147123	35147123	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atcaaagaaacaaagaacaaGaggacatagttgtactgaaa	8	5	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:35147123G>A	ENST00000381318.3	+	13	1684	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	ITSN1_ENST00000379960.5_Missense_Mutation_p.E466K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E466K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E466K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E429K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E466K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E466K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E466K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E466K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E466K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E466K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E466K|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	466	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E466K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAAAGAACAAGAGGACATAGT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											76	78	77					21																	35147123		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1396G>A	21.37:g.35147123G>A	ENSP00000370719:p.Glu466Lys		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E466K	ENST00000381318.3	37	c.1396	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.348740	0.95807	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.51817	1.58;0.69;0.72;0.69;1.58;1.58;0.69;1.58;1.58;1.58;1.58;1.58	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.993;0.997;0.999;0.997;0.998;0.998;1.0;0.998	D;D;D;D;D;D;D;D;D;D	0.85130	0.993;0.993;0.971;0.991;0.994;0.985;0.991;0.991;0.997;0.993	T	0.75897	-0.3155	10	0.87932	D	0	.	17.8738	0.88818	0.0:0.0:1.0:0.0	.	429;429;429;466;466;466;466;466;466;429	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	429;466;466;466;466;466;466;466;466;466;466;466;466;466	ENSP00000382290:E429K;ENSP00000370719:E466K;ENSP00000370691:E466K;ENSP00000370685:E466K;ENSP00000382301:E466K;ENSP00000382289:E466K;ENSP00000382292:E466K;ENSP00000382286:E466K;ENSP00000382275:E466K;ENSP00000387377:E466K;ENSP00000382265:E466K;ENSP00000369294:E466K	ENSP00000369294:E466K	E	+	1	0	ITSN1	34068993	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.784000	0.85713	2.289000	0.77006	0.655000	0.94253	GAG	ITSN1	-	NULL		0.368	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35147123	1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35147123	G	A	35147123	3	1	58	1	0	0	0	0	1	0	0	0	7946	943	33	1	1442	1	ITSN1	21	35147123	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	221426	35147123	12982772	1284	9034										
DOPEY2	9980	genome.wustl.edu	37	chr21	37642322	37642322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aattctcaggaaatcactcaGaaaatcctagaagctgtggg	9	8	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:37642322G>C	ENST00000399151.3	+	27	5584	c.5499G>C	c.(5497-5499)caG>caC	p.Q1833H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1833					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.Q1833H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAATCACTCAGAAAATCCTAG	0.458																																																	1	Substitution - Missense(1)	cervix(1)											111	123	119					21																	37642322		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5499G>C	21.37:g.37642322G>C	ENSP00000382104:p.Gln1833His		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.Q1833H	ENST00000399151.3	37	c.5499	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565261	0.27915	.	.	ENSG00000142197	ENST00000399151	T	0.66815	-0.23	5.17	-5.42	0.02640	.	0.054653	0.85682	N	0.000000	T	0.67924	0.2945	L	0.52266	1.64	0.44834	D	0.997847	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71234	-0.4653	10	0.13853	T	0.58	-1.0231	11.4222	0.49989	0.3474:0.0925:0.5601:0.0	.	1833;1833	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1833	ENSP00000382104:Q1833H	ENSP00000382104:Q1833H	Q	+	3	2	DOPEY2	36564192	1.000000	0.71417	0.877000	0.34402	0.992000	0.81027	0.936000	0.28938	-1.115000	0.02973	-0.145000	0.13849	CAG	DOPEY2	-	NULL		0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37642322	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.969	C	C	37642322	G	C	37642322	3	2	58	1	0	0	0	0	1	0	0	0	4718	933	33	1	5601	1	DOPEY2	21	37642322	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2495199	37642322	10487573	1285	9035										
DYRK1A	1859	genome.wustl.edu	37	chr21	38884574	38884574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctactggtaaccaaggcaatCaggcctaccagaatcgccca	8	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:38884574C>G	ENST00000398960.2	+	11	2107	c.2032C>G	c.(2032-2034)Cag>Gag	p.Q678E	DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q669E|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q450E|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	678					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.Q678E(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAAGGCAATCAGGCCTACCA	0.507																																					Melanoma(114;464 1602 31203 43785 45765)												1	Substitution - Missense(1)	cervix(1)											150	134	139					21																	38884574		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2032C>G	21.37:g.38884574C>G	ENSP00000381932:p.Gln678Glu		O60769|Q92582|Q92810|Q9UNM5	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.Q678E	ENST00000398960.2	37	c.2032	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405145	0.42613	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.56444	0.46;0.49;1.02	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	N	0.19112	0.55	0.80722	D	1	P;P	0.43578	0.713;0.811	P;P	0.54924	0.585;0.764	T	0.57568	-0.7789	10	0.51188	T	0.08	.	19.9093	0.97021	0.0:1.0:0.0:0.0	.	678;669	Q13627;Q13627-2	DYR1A_HUMAN;.	E	669;678;450	ENSP00000340373:Q669E;ENSP00000381932:Q678E;ENSP00000407854:Q450E	ENSP00000340373:Q669E	Q	+	1	0	DYRK1A	37806444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.713000	0.92767	0.655000	0.94253	CAG	DYRK1A	-	NULL		0.507	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	C	NM_001396		38884574	1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38884574	C	G	38884574	3	3	58	1	0	0	0	0	1	0	0	0	4864	827	29	1	2158	1	DYRK1A	21	38884574	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1242252	38884574	9245321	1286	9036										
BRWD1	54014	genome.wustl.edu	37	chr21	40667817	40667817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accctgtgagttgttttcctCgatgtatctccactaggaaa	8	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:40667817C>G	ENST00000333229.2	-	7	788	c.461G>C	c.(460-462)cGa>cCa	p.R154P	BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Missense_Mutation_p.R154P|BRWD1_ENST00000342449.3_Missense_Mutation_p.R154P	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	154					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R154P(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTGTTTTCCTCGATGTATCTC	0.358																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	cervix(2)											89	85	87					21																	40667817		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.461G>C	21.37:g.40667817C>G	ENSP00000330753:p.Arg154Pro		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R154P	ENST00000333229.2	37	c.461	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900022	0.72754	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16897	2.31;2.31;2.31	5.91	5.02	0.67125	.	0.388763	0.24492	N	0.038059	T	0.25644	0.0624	L	0.36672	1.1	0.80722	D	1	P;D	0.69078	0.954;0.997	P;P	0.62435	0.576;0.902	T	0.00213	-1.1913	10	0.37606	T	0.19	-5.2091	9.8729	0.41187	0.0:0.7988:0.0:0.2012	.	154;154	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	P	154	ENSP00000330753:R154P;ENSP00000344333:R154P;ENSP00000370178:R154P	ENSP00000330753:R154P	R	-	2	0	BRWD1	39589687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.983000	0.49345	2.803000	0.96430	0.650000	0.86243	CGA	BRWD1	-	NULL		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40667817	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40667817	C	G	40667817	3	3	58	1	0	0	0	0	1	0	0	0	1528	884	31	1	6884	1	BRWD1	21	40667817	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1783243	40667817	7462078	1287	9037										
PKNOX1	5316	genome.wustl.edu	37	chr21	44430227	44430227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacaatctacacagggctctGaaggcacaacttctgccagt	8	12	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:44430227G>C	ENST00000291547.5	+	4	455	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	82					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82Q(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ACAGGGCTCTGAAGGCACAAC	0.363																																																	1	Substitution - Missense(1)	cervix(1)											79	80	80					21																	44430227		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.244G>C	21.37:g.44430227G>C	ENSP00000291547:p.Glu82Gln		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E82Q	ENST00000291547.5	37	c.244	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904543	0.92035	.	.	ENSG00000160199	ENST00000291547	T	0.35973	1.28	5.5	5.5	0.81552	.	0.149816	0.64402	D	0.000013	T	0.48314	0.1493	L	0.49126	1.545	0.80722	D	1	P;D;P	0.57899	0.844;0.981;0.933	B;P;P	0.52109	0.445;0.69;0.542	T	0.48468	-0.9033	10	0.72032	D	0.01	-16.8	19.3751	0.94505	0.0:0.0:1.0:0.0	.	82;82;82	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	Q	82	ENSP00000291547:E82Q	ENSP00000291547:E82Q	E	+	1	0	PKNOX1	43303296	1.000000	0.71417	0.275000	0.24674	0.847000	0.48162	9.242000	0.95408	2.586000	0.87340	0.561000	0.74099	GAA	PKNOX1	-	NULL		0.363	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	G			44430227	1	no_errors	ENST00000291547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44430227	G	C	44430227	3	2	58	1	0	0	0	0	1	0	0	0	12006	1291	45	1	254	1	PKNOX1	21	44430227	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3762410	44430227	3699668	1288	9038										
PKNOX1	5316	genome.wustl.edu	37	chr21	44430276	44430276	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agacatcgaaaattttgtaaGaaagcaagagaaggaaggga	12	3	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:44430276G>A	ENST00000291547.5	+	4	504	c.293G>A	c.(292-294)aGa>aAa	p.R98K	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	98					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R98K(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AATTTTGTAAGAAAGCAAGAG	0.313																																																	1	Substitution - Missense(1)	cervix(1)											57	56	57					21																	44430276		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.293G>A	21.37:g.44430276G>A	ENSP00000291547:p.Arg98Lys		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R98K	ENST00000291547.5	37	c.293	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420319	0.62622	.	.	ENSG00000160199	ENST00000291547	T	0.40476	1.03	5.5	5.5	0.81552	.	0.048576	0.85682	D	0.000000	T	0.33147	0.0853	N	0.21545	0.675	0.80722	D	1	P;P;P	0.46859	0.75;0.688;0.885	P;B;P	0.45753	0.473;0.3;0.492	T	0.03287	-1.1052	10	0.22706	T	0.39	-14.2194	12.6975	0.57012	0.0757:0.0:0.9243:0.0	.	98;98;98	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	K	98	ENSP00000291547:R98K	ENSP00000291547:R98K	R	+	2	0	PKNOX1	43303345	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	7.446000	0.80609	2.586000	0.87340	0.561000	0.74099	AGA	PKNOX1	-	NULL		0.313	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	G			44430276	1	no_errors	ENST00000291547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44430276	G	A	44430276	3	1	58	1	0	0	0	0	1	0	0	0	12006	942	33	1	303	1	PKNOX1	21	44430276	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	49	44430276	3699619	1289	9039										
PFKL	5211	genome.wustl.edu	37	chr21	45736150	45736150	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggagccgtgggtcccgactGaacatcatcatcatcgctga	11	13	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:45736150G>A	ENST00000349048.4	+	8	826	c.771G>A	c.(769-771)ctG>ctA	p.L257L	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Silent_p.L304L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	257	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.L304L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTCCCGACTGAACATCATCA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											126	95	105					21																	45736150		2203	4298	6501	SO:0001819	synonymous_variant	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.771G>A	21.37:g.45736150G>A			Q96A64|Q96IH4|Q9BR91	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.L304	ENST00000349048.4	37	c.912	CCDS33582.1	21																																																																																			PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.652	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	G			45736150	1	no_errors	ENST00000403390	ensembl	human	known	70_37	silent	SNP	0.984	A	A	45736150	G	A	45736150	2	1	58	1	0	0	0	0	0	0	0	1	11788	1277	45	1		1	PFKL	21	45736150	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1305874	45736150	2393745	1290	9040										
C21orf29	54084	genome.wustl.edu	37	chr21	45929254	45929254	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gatctggaagacctcccagtCtgcagcaccgaacgtctagg	11	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:45929254C>T	ENST00000323084.4	-	10	1647	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.D460N|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	528					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.D528N(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACCTCCCAGTCTGCAGCACCG	0.602																																																	2	Substitution - Missense(2)	cervix(1)|breast(1)											100	72	81					21																	45929254		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1582G>A	21.37:g.45929254C>T	ENSP00000321987:p.Asp528Asn			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.D528N	ENST00000323084.4	37	c.1582	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542510	0.85917	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	D;D	0.82255	-1.59;-1.59	3.98	3.98	0.46160	.	0.053040	0.85682	D	0.000000	D	0.89832	0.6829	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.91219	0.5005	10	0.62326	D	0.03	-21.8433	17.0238	0.86440	0.0:1.0:0.0:0.0	.	528	Q8WU66	TSEAR_HUMAN	N	528;381;460;529	ENSP00000321987:D528N;ENSP00000381012:D460N	ENSP00000321987:D528N	D	-	1	0	TSPEAR	44753682	1.000000	0.71417	0.915000	0.36163	0.584000	0.36387	7.060000	0.76692	2.164000	0.68074	0.558000	0.71614	GAC	TSPEAR	-	pfam_EPTP,pfscan_EAR		0.602	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45929254	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45929254	C	T	45929254	3	4	58	1	0	0	0	0	1	0	0	0	2129	913	32	1	439	1	C21orf29	21	45929254	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	193104	45929254	2200641	1291	9041										
LSS	4047	genome.wustl.edu	37	chr21	47639401	47639401	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagacataccacatctctggGaacagggtattgaggccttc	10	11	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:47639401G>A	ENST00000397728.3	-	6	714	c.636C>T	c.(634-636)ttC>ttT	p.F212F	LSS_ENST00000457828.2_Silent_p.F132F|LSS_ENST00000464357.1_5'UTR|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000522411.1_Silent_p.F201F|LSS_ENST00000356396.4_Silent_p.F212F	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	212					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.F212F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ACATCTCTGGGAACAGGGTAT	0.592																																					Pancreas(114;955 2313 34923 50507)												1	Substitution - coding silent(1)	cervix(1)											172	124	141					21																	47639401		2203	4300	6503	SO:0001819	synonymous_variant	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.636C>T	21.37:g.47639401G>A			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.F212	ENST00000397728.3	37	c.636	CCDS13733.1	21																																																																																			LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase		0.592	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	G			47639401	-1	no_errors	ENST00000356396	ensembl	human	known	70_37	silent	SNP	0.988	A	A	47639401	G	A	47639401	2	1	58	1	0	0	0	0	0	0	0	1	9088	1165	41	1		1	LSS	21	47639401	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1710147	47639401	490494	1292	9042										
CECR2	27443	genome.wustl.edu	37	chr22	18021987	18021987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcagataagtggcccaagtCaggatggaagcatgtatgct	14	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:18021987C>G	ENST00000400585.2	+	16	2104	c.1666C>G	c.(1666-1668)Cag>Gag	p.Q556E	CECR2_ENST00000262608.8_Missense_Mutation_p.Q698E|CECR2_ENST00000400573.5_Missense_Mutation_p.Q697E			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	739					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.Q697E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGCCCAAGTCAGGATGGAAG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											24	26	25					22																	18021987		1980	4154	6134	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1666C>G	22.37:g.18021987C>G	ENSP00000383428:p.Gln556Glu		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q697E	ENST00000400585.2	37	c.2089		22	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174637	0.21704	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26660	1.84;1.84;1.72	5.43	5.43	0.79202	.	0.343447	0.22135	N	0.064130	T	0.25644	0.0624	M	0.62723	1.935	0.26815	N	0.968915	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.15870	0.014;0.014;0.014	T	0.07083	-1.0791	10	0.28530	T	0.3	-8.2042	9.9006	0.41344	0.0:0.8512:0.0:0.1488	.	739;556;697	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	E	556;697;698	ENSP00000383428:Q556E;ENSP00000383417:Q697E;ENSP00000262608:Q698E	ENSP00000262608:Q698E	Q	+	1	0	CECR2	16401987	0.018000	0.18449	0.998000	0.56505	0.323000	0.28346	1.685000	0.37659	2.825000	0.97269	0.655000	0.94253	CAG	CECR2	-	NULL		0.587	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	C	NM_031413		18021987	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	0.894	G	G	18021987	C	G	18021987	3	3	58	1	0	0	0	0	1	0	0	0	3211	827	29	1	2149	1	CECR2	22	18021987	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08		18021987	33282579	1293	9043										
DGCR6	8214	genome.wustl.edu	37	chr22	18893924	18893924	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcgccttggaggaggtggcgGacggtgcccggcagcaggag	21	10	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:18893924G>C	ENST00000331444.6	+	1	189	c.37G>C	c.(37-39)Gac>Cac	p.D13H	DGCR6_ENST00000608842.1_Missense_Mutation_p.D13H|DGCR6_ENST00000413981.1_Intron	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	13					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)		p.D13H(1)		central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GGAGGTGGCGGACGGTGCCCG	0.736																																																	1	Substitution - Missense(1)	cervix(1)											12	13	13					22																	18893924		2188	4270	6458	SO:0001583	missense	8214			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.37G>C	22.37:g.18893924G>C	ENSP00000331681:p.Asp13His		B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	pfam_DGCR6	p.D13H	ENST00000331444.6	37	c.37	CCDS13753.1	22	.	.	.	.	.	.	.	.	.	.	g	34	5.388995	0.95988	.	.	ENSG00000183628	ENST00000331444	T	0.36520	1.25	3.95	3.95	0.45737	.	0.055395	0.64402	D	0.000002	T	0.56804	0.2010	M	0.70595	2.14	0.39126	D	0.961757	D	0.71674	0.998	D	0.67382	0.951	T	0.65487	-0.6156	10	0.87932	D	0	-16.7198	14.3421	0.66633	0.0:0.0:1.0:0.0	.	13	Q14129	DGCR6_HUMAN	H	13	ENSP00000331681:D13H	ENSP00000331681:D13H	D	+	1	0	DGCR6	17273924	1.000000	0.71417	0.420000	0.26596	0.779000	0.44077	5.538000	0.67193	2.167000	0.68274	0.423000	0.28283	GAC	DGCR6	-	pfam_DGCR6		0.736	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	G	NM_005675		18893924	1	no_errors	ENST00000331444	ensembl	human	known	70_37	missense	SNP	0.679	C	C	18893924	G	C	18893924	3	2	58	1	0	0	0	0	1	0	0	0	4472	1174	41	1	39	1	DGCR6	22	18893924	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	871937	18893924	32410642	1294	9044										
HIRA	7290	genome.wustl.edu	37	chr22	19349384	19349384	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cttagccaaagggactttctCatcgctgtcactgctgctct	8	13	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:19349384C>G	ENST00000263208.5	-	16	2102	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.E572Q|HIRA_ENST00000546308.1_Missense_Mutation_p.E572Q	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	616	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.E616Q(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)					GGGACTTTCTCATCGCTGTCA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											146	141	143					22																	19349384		2203	4300	6503	SO:0001583	missense	7290			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.1846G>C	22.37:g.19349384C>G	ENSP00000263208:p.Glu616Gln		Q05BU9|Q8IXN2	Missense_Mutation	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.E616Q	ENST00000263208.5	37	c.1846	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324610	0.81580	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T	0.72835	-0.69;-0.53;-0.5	5.3	5.3	0.74995	.	0.105732	0.64402	D	0.000005	T	0.68302	0.2986	N	0.24115	0.695	0.80722	D	1	D;P	0.53619	0.961;0.935	P;P	0.52159	0.691;0.575	T	0.68254	-0.5457	10	0.39692	T	0.17	-17.2745	17.3079	0.87200	0.0:1.0:0.0:0.0	.	572;616	F5H4M2;P54198	.;HIRA_HUMAN	Q	616;572;125;572	ENSP00000263208:E616Q;ENSP00000446073:E572Q;ENSP00000441870:E572Q	ENSP00000263208:E616Q	E	-	1	0	HIRA	17729384	1.000000	0.71417	0.934000	0.37439	0.846000	0.48090	6.272000	0.72575	2.755000	0.94549	0.555000	0.69702	GAG	HIRA	-	NULL		0.502	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	C	NM_003325		19349384	-1	no_errors	ENST00000263208	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19349384	C	G	19349384	3	3	58	1	0	0	0	0	1	0	0	0	7140	835	29	1	1247	1	HIRA	22	19349384	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	455460	19349384	31955182	1295	9045										
AIFM3	150209	genome.wustl.edu	37	chr22	21333933	21333933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggctacggagaaggcttcGacgacgtcatcatccagggg	14	11	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:21333933G>A	ENST00000399167.2	+	18	1834	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	AIFM3_ENST00000440238.2_Missense_Mutation_p.D532N|AIFM3_ENST00000399163.2_Missense_Mutation_p.D532N|AIFM3_ENST00000465606.1_3'UTR|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000333607.6_Missense_Mutation_p.D532N|AIFM3_ENST00000405089.1_Missense_Mutation_p.D538N|AIFM3_ENST00000335375.5_Missense_Mutation_p.D520N|LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000215739.8_5'Flank	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	532					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.D532N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGAAGGCTTCGACGACGTCAT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											107	115	113					22																	21333933		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1594G>A	22.37:g.21333933G>A	ENSP00000382120:p.Asp532Asn		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.D532N	ENST00000399167.2	37	c.1594	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499852	0.85176	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.27	2.13	0.27403	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;P;D;D;P	0.67382	0.943;0.848;0.951;0.951;0.895	T	0.64618	-0.6365	10	0.54805	T	0.06	-5.5335	7.7013	0.28625	0.0941:0.1656:0.7403:0.0	.	520;520;538;532;532	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	N	532;532;538;520;532;532	ENSP00000382120:D532N;ENSP00000382116:D532N;ENSP00000385800:D538N;ENSP00000335369:D520N;ENSP00000390798:D532N;ENSP00000327671:D532N	ENSP00000327671:D532N	D	+	1	0	AIFM3	19663933	0.967000	0.33354	0.992000	0.48379	0.993000	0.82548	3.159000	0.50731	0.544000	0.28883	0.561000	0.74099	GAC	AIFM3	-	superfamily_FAD/NAD-linked_Rdtase_dimer		0.637	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	G	NM_144704		21333933	1	no_errors	ENST00000399167	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21333933	G	A	21333933	3	1	58	1	0	0	0	0	1	0	0	0	428	1058	37	1	1678	1	AIFM3	22	21333933	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1984549	21333933	29970633	1296	9046										
BCR	613	genome.wustl.edu	37	chr22	23603578	23603578	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagccgctgccaccacctctCagccggtgctgacgagtcag	11	16	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:23603578C>T	ENST00000305877.8	+	4	2354	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	RN7SL263P_ENST00000467969.2_RNA|BCR_ENST00000359540.3_Nonsense_Mutation_p.Q535*	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	535	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q535*(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CACCACCTCTCAGCCGGTGCT	0.567			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	1	Substitution - Nonsense(1)	cervix(1)											100	105	103					22																	23603578		2203	4300	6503	SO:0001587	stop_gained	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1603C>T	22.37:g.23603578C>T	ENSP00000303507:p.Gln535*		P78501|Q12842|Q4LE80|Q6NZI3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.Q535*	ENST00000305877.8	37	c.1603	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600091	0.87055	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	.	.	.	5.35	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.7479	0.69501	0.1457:0.8543:0.0:0.0	.	.	.	.	X	535;535;200;55	.	ENSP00000303507:Q535X	Q	+	1	0	BCR	21933578	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	7.519000	0.81809	1.367000	0.46095	0.655000	0.94253	CAG	BCR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	C	NM_004327		23603578	1	no_errors	ENST00000305877	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	23603578	C	T	23603578	4	4	58	1	0	0	0	0	0	1	0	0	1389	827	29	1	1617	1	BCR	22	23603578	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2269645	23603578	27700988	1297	9047										
GSTT1	2952	genome.wustl.edu	37	chr22	24384148	24384148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agatccacgatgcgcagctcGaagggaatgtcgttcttctt	11	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:24384148G>C	ENST00000248935.5	-	1	136	c.84C>G	c.(82-84)ttC>ttG	p.F28L	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		28	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.F28L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TGCGCAGCTCGAAGGGAATGT	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																								1	Substitution - Missense(1)	cervix(1)											94	87	89					22																	24384148		1711	3611	5322	SO:0001583	missense	2952	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																												ENST00000248935.5:c.84C>G	22.37:g.24384148G>C	ENSP00000248935:p.Phe28Leu		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.F28L	ENST00000248935.5	37	c.84	CCDS13822.1	22	.	.	.	.	.	.	.	.	.	.	.	24.2	4.507453	0.85282	.	.	ENSG00000184674	ENST00000248935;ENST00000382792;ENST00000452369;ENST00000417870;ENST00000447865	T;T;T	0.64618	3.19;-0.11;3.19	5.32	5.32	0.75619	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.061377	0.64402	U	0.000003	T	0.68604	0.3019	L	0.56199	1.76	0.80722	D	1	D	0.57257	0.979	P	0.52424	0.698	T	0.69269	-0.5189	10	0.48119	T	0.1	-19.8275	16.929	0.86184	0.0:0.0:1.0:0.0	.	28	P30711	GSTT1_HUMAN	L	28	ENSP00000248935:F28L;ENSP00000406003:F28L;ENSP00000397362:F28L	ENSP00000248935:F28L	F	-	3	2	GSTT1	22714148	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	0.949000	0.29109	2.683000	0.91414	0.558000	0.71614	TTC	GSTT1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT1	HGNC	protein_coding	OTTHUMT00000320184.2	G			24384148	-1	no_errors	ENST00000248935	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24384148	G	C	24384148	3	2	58	1	0	0	0	0	1	0	0	0	6865	1049	37	1	658	1	GSTT1	22	24384148	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	780570	24384148	26920418	1298	9048										
LRP5L	91355	genome.wustl.edu	37	chr22	25750768	25750768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtctgcctcttcgtctcatcGacactgatcgcctgcagaat	8	14	3	2	rs555246803		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:25750768G>A	ENST00000402785.2	-	3	546	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607													G|||	1	0.000199681	0	0	5008	,	,		20116	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)											110	97	101					22																	25750768		2200	4300	6500	SO:0001819	synonymous_variant	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.450C>T	22.37:g.25750768G>A			B0QYF3|B0QYF4|B2RPI5	Silent	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.V150	ENST00000402785.2	37	c.450	CCDS33626.1	22																																																																																			LRP5L	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt		0.607	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	G	NM_182492		25750768	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	silent	SNP	0.652	A	A	25750768	G	A	25750768	2	1	58	1	0	0	0	0	0	0	0	1	8984	1045	37	1		1	LRP5L	22	25750768	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1366620	25750768	25553798	1299	9049										
NF2	4771	genome.wustl.edu	37	chr22	30077525	30077525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgaaagagagggagacagctCtggatattctgcacaatgag	13	6	2	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:30077525C>G	ENST00000338641.4	+	15	2113	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.L529V|NF2_ENST00000397789.3_Missense_Mutation_p.L558V|NF2_ENST00000403999.3_Missense_Mutation_p.L558V|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361166.4_Missense_Mutation_p.L558V|NF2_ENST00000353887.4_Missense_Mutation_p.L475V|NF2_ENST00000361452.4_Missense_Mutation_p.L517V|NF2_ENST00000361676.4_Missense_Mutation_p.L516V|NF2_ENST00000334961.7_Missense_Mutation_p.L475V	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	558					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.L558V(2)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGAGACAGCTCTGGATATTCT	0.463			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	6	Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	cervix(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)											123	127	126					22																	30077525		2203	4300	6503	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1672C>G	22.37:g.30077525C>G	ENSP00000344666:p.Leu558Val		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.L558V	ENST00000338641.4	37	c.1672	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494443	0.26774	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	6.03	-3.57	0.04612	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.062953	0.64402	D	0.000004	D	0.83589	0.5287	M	0.67397	2.05	0.80722	D	1	P;B;P;B;P;B;P;B	0.42409	0.779;0.259;0.743;0.304;0.47;0.342;0.619;0.342	P;B;B;P;P;B;B;B	0.53760	0.734;0.393;0.423;0.528;0.516;0.098;0.243;0.217	T	0.79531	-0.1765	9	.	.	.	.	10.0638	0.42290	0.192:0.581:0.0:0.2269	.	533;529;517;558;558;516;475;558	B7Z4B6;P35240-8;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;.;MERL_HUMAN;.;.;.;.	V	558;529;517;533;558;475;475;558;516;558	ENSP00000344666:L558V;ENSP00000384029:L529V;ENSP00000354897:L517V;ENSP00000384797:L558V;ENSP00000335652:L475V;ENSP00000340626:L475V;ENSP00000380891:L558V;ENSP00000355183:L516V;ENSP00000354529:L558V	.	L	+	1	2	NF2	28407525	0.000000	0.05858	0.028000	0.17463	0.599000	0.36880	-0.270000	0.08584	-0.564000	0.06070	-0.793000	0.03317	CTG	NF2	-	pirsf_ERM,pfam_ERM_C,superfamily_Moesin		0.463	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	C	NM_000268		30077525	1	no_errors	ENST00000338641	ensembl	human	known	70_37	missense	SNP	0.108	G	G	30077525	C	G	30077525	3	3	58	1	0	0	0	0	1	0	0	0	10381	912	32	1	1730	1	NF2	22	30077525	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	4326757	30077525	21227041	1300	9050										
TBC1D10A	83874	genome.wustl.edu	37	chr22	30722721	30722721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgtcgatgcggcgctcggcGaagccgttggcctccgagtc	15	13	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:30722721G>A	ENST00000215790.7	-	1	314	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.F50F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	50					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.F50F(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCGCTCGGCGAAGCCGTTGG	0.711																																																	1	Substitution - coding silent(1)	cervix(1)											23	29	27					22																	30722721		2202	4291	6493	SO:0001819	synonymous_variant	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.150C>T	22.37:g.30722721G>A			B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F50	ENST00000215790.7	37	c.150	CCDS13874.1	22																																																																																			TBC1D10A	-	NULL		0.711	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	G	NM_031937		30722721	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	silent	SNP	0.999	A	A	30722721	G	A	30722721	2	1	58	1	0	0	0	0	0	0	0	1	15628	1049	37	1		1	TBC1D10A	22	30722721	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	645196	30722721	20581845	1301	9051										
SFI1	9814	genome.wustl.edu	37	chr22	32009453	32009453	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggagggtgccacgcggctCctgcgctttgcagccagcat	14	14	0	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:32009453C>T	ENST00000400288.2	+	26	2784	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	SFI1_ENST00000443326.1_Silent_p.L811L|SFI1_ENST00000443011.1_Silent_p.L740L|SFI1_ENST00000432498.1_Silent_p.L862L|SFI1_ENST00000400289.1_Silent_p.L811L|SFI1_ENST00000540643.1_Silent_p.L838L|SFI1_ENST00000414585.1_Silent_p.L740L	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	893					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.L893L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCACGCGGCTCCTGCGCTTTG	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											14	18	17					22																	32009453		2009	4171	6180	SO:0001819	synonymous_variant	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2679C>T	22.37:g.32009453C>T			A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	superfamily_Cyclin-like	p.L893	ENST00000400288.2	37	c.2679	CCDS43004.1	22																																																																																			SFI1	-	NULL		0.687	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	C	NM_014775		32009453	1	no_errors	ENST00000400288	ensembl	human	known	70_37	silent	SNP	0.982	T	T	32009453	C	T	32009453	2	4	58	1	0	0	0	0	0	0	0	1	14186	842	30	1		1	SFI1	22	32009453	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1286732	32009453	19295113	1302	9052										
RFPL3	10738	genome.wustl.edu	37	chr22	32754152	32754152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccctggcagtggacatggctGcactcttccaagaagcaagc	11	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:32754152G>C	ENST00000249007.4	+	1	299	c.94G>C	c.(94-96)Gca>Cca	p.A32P	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.A3P|RFPL3_ENST00000397468.1_Missense_Mutation_p.A3P	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	32							zinc ion binding (GO:0008270)	p.A32P(1)|p.A3P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGACATGGCTGCACTCTTCCA	0.483																																																	2	Substitution - Missense(2)	cervix(2)											80	81	80					22																	32754152		2203	4300	6503	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.94G>C	22.37:g.32754152G>C	ENSP00000249007:p.Ala32Pro		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.A32P	ENST00000249007.4	37	c.94	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114841	0.37339	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.55052	0.55;0.54;0.55	0.851	-1.7	0.08159	.	.	.	.	.	T	0.44393	0.1291	L	0.41027	1.25	0.09310	N	1	P	0.49358	0.923	P	0.48840	0.592	T	0.33727	-0.9857	9	0.49607	T	0.09	.	4.0297	0.09703	0.5178:0.0:0.4822:0.0	.	32	O75679	RFPL3_HUMAN	P	3;32;3	ENSP00000380609:A3P;ENSP00000249007:A32P;ENSP00000371520:A3P	ENSP00000249007:A32P	A	+	1	0	RFPL3	31084152	0.020000	0.18652	0.003000	0.11579	0.554000	0.35429	0.803000	0.27083	-0.651000	0.05415	0.194000	0.17425	GCA	RFPL3	-	NULL		0.483	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	G	NM_006604		32754152	1	no_errors	ENST00000249007	ensembl	human	known	70_37	missense	SNP	0.031	C	C	32754152	G	C	32754152	3	2	58	1	0	0	0	0	1	0	0	0	13285	1319	46	4	96	4	RFPL3	22	32754152	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	744699	32754152	18550414	1303	9053										
HMOX1	3162	genome.wustl.edu	37	chr22	35782729	35782729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tggccctggaggaggagattGagcgcaacaaggagagccca	16	9	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:35782729G>C	ENST00000216117.8	+	3	535	c.196G>C	c.(196-198)Gag>Cag	p.E66Q		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	66					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E66Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GGAGGAGATTGAGCGCAACAA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											52	52	52					22																	35782729		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.196G>C	22.37:g.35782729G>C	ENSP00000216117:p.Glu66Gln			Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.E66Q	ENST00000216117.8	37	c.196	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824334	0.50739	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.23754	1.89;1.89	5.8	4.79	0.61399	Haem oxygenase-like, multi-helical (2);	0.204155	0.51477	D	0.000081	T	0.44993	0.1320	M	0.63208	1.945	0.48830	D	0.999716	D	0.76494	0.999	D	0.68483	0.958	T	0.41538	-0.9503	10	0.66056	D	0.02	-32.768	10.9503	0.47325	0.1423:0.0:0.8577:0.0	.	66	P09601	HMOX1_HUMAN	Q	66	ENSP00000413316:E66Q;ENSP00000216117:E66Q	ENSP00000216117:E66Q	E	+	1	0	HMOX1	34112729	1.000000	0.71417	0.789000	0.31954	0.098000	0.18820	7.944000	0.87722	1.476000	0.48215	-0.136000	0.14681	GAG	HMOX1	-	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase		0.617	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	HGNC	protein_coding	OTTHUMT00000320657.1	G			35782729	1	no_errors	ENST00000216117	ensembl	human	known	70_37	missense	SNP	0.998	C	C	35782729	G	C	35782729	3	2	58	1	0	0	0	0	1	0	0	0	7263	1291	45	1	206	1	HMOX1	22	35782729	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3028577	35782729	15521837	1304	9054										
MYH9	4627	genome.wustl.edu	37	chr22	36684429	36684429	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catcgagcgctgcttcctctCgtcctccagctctgcctcca	7	19	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:36684429C>A	ENST00000216181.5	-	34	5031	c.4801G>T	c.(4801-4803)Gag>Tag	p.E1601*	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1601					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1601*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGCTTCCTCTCGTCCTCCAGC	0.617			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - Nonsense(1)	cervix(1)											88	72	77					22																	36684429		2203	4300	6503	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4801G>T	22.37:g.36684429C>A	ENSP00000216181:p.Glu1601*		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1601*	ENST00000216181.5	37	c.4801	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	47	13.373651	0.99738	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	1023;203;1601	.	ENSP00000216181:E1601X	E	-	1	0	MYH9	35014375	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	7.776000	0.85560	2.735000	0.93741	0.655000	0.94253	GAG	MYH9	-	pfam_Myosin_tail		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36684429	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	36684429	C	A	36684429	4	1	58	1	0	0	0	0	0	1	0	0	10065	893	31	3	1113	3	MYH9	22	36684429	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	901700	36684429	14620137	1305	9055										
MYH9	4627	genome.wustl.edu	37	chr22	36710324	36710324	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagagctgctgcagcttctCattggtgtaattgatgcaca	11	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:36710324C>G	ENST00000216181.5	-	13	1650	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	474	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E474Q(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGCAGCTTCTCATTGGTGTAA	0.527			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - Missense(1)	cervix(1)											168	131	144					22																	36710324		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1420G>C	22.37:g.36710324C>G	ENSP00000216181:p.Glu474Gln		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E474Q	ENST00000216181.5	37	c.1420	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132847	0.77662	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.82803	-1.65	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	H	0.98849	4.35	0.80722	D	1	B	0.25904	0.137	B	0.20767	0.031	D	0.91147	0.4950	10	0.87932	D	0	.	18.4598	0.90735	0.0:1.0:0.0:0.0	.	474	P35579	MYH9_HUMAN	Q	338;474	ENSP00000216181:E474Q	ENSP00000216181:E474Q	E	-	1	0	MYH9	35040270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.524000	0.85096	0.558000	0.71614	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36710324	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36710324	C	G	36710324	3	3	58	1	0	0	0	0	1	0	0	0	10065	835	29	1	4578	1	MYH9	22	36710324	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	25895	36710324	14594242	1306	9056										
FOXRED2	80020	genome.wustl.edu	37	chr22	36889851	36889851	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcggaacctcacctcctgttCtgtggggaggagagaggggg	18	9	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:36889851C>T	ENST00000397224.4	-	8	1718		c.e8-1		FOXRED2_ENST00000216187.6_Splice_Site|FOXRED2_ENST00000366463.3_Splice_Site|FOXRED2_ENST00000397223.4_Splice_Site	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)	p.?(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACCTCCTGTTCTGTGGGGAGG	0.632																																																	1	Unknown(1)	cervix(1)											40	36	37					22																	36889851		2203	4300	6503	SO:0001630	splice_region_variant	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1625-1G>A	22.37:g.36889851C>T			B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Splice_Site	SNP	-	e7-1	ENST00000397224.4	37	c.1625-1	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1715	0.93580	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXRED2	35219797	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.209000	0.77916	2.541000	0.85698	0.650000	0.86243	.	FOXRED2	-	-		0.632	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955	Intron	36889851	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	36889851	C	T	36889851	5	4	58	1	0	0	0	0	0	0	1	0	6052	927	32	1	438	1	FOXRED2	22	36889851	Splice_Site	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	179527	36889851	14414715	1307	9057										
MICALL1	85377	genome.wustl.edu	37	chr22	38323718	38323718	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccccaggaccaggggcagctCaggtccccagccagccaagc	12	18	1	0	rs141260509		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:38323718C>T	ENST00000215957.6	+	9	1892	c.1766C>T	c.(1765-1767)tCa>tTa	p.S589L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	589	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.S589L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGGGCAGCTCAGGTCCCCAG	0.652																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/SER	0,4406		0,0,2203	76	82	80		1766	3.2	0.1	22	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	589/864	38323718	1,13005	2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1766C>T	22.37:g.38323718C>T	ENSP00000215957:p.Ser589Leu		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S589L	ENST00000215957.6	37	c.1766	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	C	8.808	0.934552	0.18206	0.0	1.16E-4	ENSG00000100139	ENST00000215957;ENST00000402631	T;T	0.54479	0.57;1.9	5.35	3.23	0.37069	.	0.680448	0.13866	N	0.357307	T	0.26448	0.0646	N	0.02011	-0.69	0.25956	N	0.982681	B	0.02656	0.0	B	0.04013	0.001	T	0.15037	-1.0451	10	0.30854	T	0.27	.	12.313	0.54940	0.0:0.8601:0.0:0.1399	.	589	Q8N3F8	MILK1_HUMAN	L	589;16	ENSP00000215957:S589L;ENSP00000384608:S16L	ENSP00000215957:S589L	S	+	2	0	MICALL1	36653664	0.190000	0.23276	0.149000	0.22428	0.075000	0.17131	0.588000	0.23924	1.262000	0.44165	0.555000	0.69702	TCA	MICALL1	-	NULL		0.652	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	C	NM_033386		38323718	1	no_errors	ENST00000215957	ensembl	human	known	70_37	missense	SNP	0.760	T	T	38323718	C	T	38323718	3	4	58	1	0	0	0	0	1	0	0	0	9596	838	29	1	1800	1	MICALL1	22	38323718	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1433867	38323718	12980848	1308	9058										
PICK1	9463	genome.wustl.edu	37	chr22	38469791	38469791	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cccacacagtcgtactgcctGaaggtgaaggagatggatga	13	9	0	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:38469791G>C	ENST00000404072.3	+	11	1142	c.795G>C	c.(793-795)ctG>ctC	p.L265L	PICK1_ENST00000356976.3_Silent_p.L265L|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	265	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.L265L(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CGTACTGCCTGAAGGTGAAGG	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											147	114	125					22																	38469791		2203	4300	6503	SO:0001819	synonymous_variant	9463			AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.795G>C	22.37:g.38469791G>C			B3KS52|O95906	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_Arfaptin_homology_dom,pfscan_PDZ	p.L265	ENST00000404072.3	37	c.795	CCDS13965.1	22																																																																																			PICK1	-	pfam_Arfaptin_homology_dom,pfam_BAR_dom,pfscan_Arfaptin_homology_dom		0.607	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PICK1	HGNC	protein_coding	OTTHUMT00000321569.2	G	NM_012407		38469791	1	no_errors	ENST00000356976	ensembl	human	known	70_37	silent	SNP	1.000	C	C	38469791	G	C	38469791	2	2	58	1	0	0	0	0	0	0	0	1	11905	1277	45	1		1	PICK1	22	38469791	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	146073	38469791	12834775	1309	9059										
APOBEC3B	9582	genome.wustl.edu	37	chr22	39381838	39381838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtatttcaagcctcagtacCacgcagaaatgtgcttcctc	7	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:39381838C>T	ENST00000333467.3	+	3	241	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.H66Y|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.H66Y	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	66	CMP/dCMP deaminase zinc-binding 1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H66Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCCTCAGTACCACGCAGAAAT	0.597																																																	1	Substitution - Missense(1)	cervix(1)											125	105	112					22																	39381838		2198	4287	6485	SO:0001583	missense	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.196C>T	22.37:g.39381838C>T	ENSP00000327459:p.His66Tyr		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.H66Y	ENST00000333467.3	37	c.196	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	14.47	2.546224	0.45383	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	D;D;D	0.96522	-4.04;-4.04;-4.04	2.19	2.19	0.27852	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	D	0.98311	0.9440	M	0.93808	3.46	0.21740	N	0.999565	D;D	0.76494	0.997;0.999	D;D	0.87578	0.998;0.988	D	0.92482	0.5993	9	0.87932	D	0	.	10.5105	0.44860	0.0:1.0:0.0:0.0	.	66;66	B0QYD2;Q9UH17	.;ABC3B_HUMAN	Y	66	ENSP00000385068:H66Y;ENSP00000385060:H66Y;ENSP00000327459:H66Y	ENSP00000327459:H66Y	H	+	1	0	APOBEC3B	37711784	0.972000	0.33761	0.037000	0.18230	0.014000	0.08584	4.428000	0.59894	1.555000	0.49500	0.306000	0.20318	CAC	APOBEC3B	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.597	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	C	NM_004900		39381838	1	no_errors	ENST00000333467	ensembl	human	known	70_37	missense	SNP	0.538	T	T	39381838	C	T	39381838	3	4	58	1	0	0	0	0	1	0	0	0	790	594	21	4	206	4	APOBEC3B	22	39381838	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	912047	39381838	11922728	1310	9060										
CACNA1I	8911	genome.wustl.edu	37	chr22	40043865	40043865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agggagatgaagggagacatCtcggaagccggcattgccag	16	8	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:40043865C>T	ENST00000402142.3	+	9	1501	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000336649.4_Missense_Mutation_p.L501F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L501F|CACNA1I_ENST00000404898.1_Intron	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	501					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L501F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	agggaGACATCTCGGAAGCCG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											65	69	68					22																	40043865		1926	4111	6037	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1501C>T	22.37:g.40043865C>T	ENSP00000385019:p.Leu501Phe		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L501F	ENST00000402142.3	37	c.1501	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.242730	0.01481	.	.	ENSG00000100346	ENST00000402142;ENST00000401624;ENST00000336649	D;D;D	0.96940	-4.14;-4.13;-4.18	2.34	-4.67	0.03319	.	3.116750	0.01710	U	0.027679	D	0.89989	0.6875	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80538	-0.1338	10	0.32370	T	0.25	.	1.1289	0.01741	0.1498:0.2212:0.3601:0.2688	.	501;501	Q9P0X4-2;Q9P0X4	.;CAC1I_HUMAN	F	501	ENSP00000385019:L501F;ENSP00000383887:L501F;ENSP00000337829:L501F	ENSP00000337829:L501F	L	+	1	0	CACNA1I	38373811	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.076000	0.03420	-1.119000	0.02958	-0.251000	0.11542	CTC	CACNA1I	-	NULL		0.557	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40043865	1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40043865	C	T	40043865	3	4	58	1	0	0	0	0	1	0	0	0	2551	913	32	1	1535	1	CACNA1I	22	40043865	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	662027	40043865	11260701	1311	9061										
ST13	6767	genome.wustl.edu	37	chr22	41226912	41226912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tctttctttgatctctcgctCttcacgttttcgctcatact	4	13	6	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:41226912C>G	ENST00000216218.3	-	9	1211	c.730G>C	c.(730-732)Gag>Cag	p.E244Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	244					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)	p.E244Q(1)		cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATCTCTCGCTCTTCACGTTTT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											75	72	73					22																	41226912		2203	4297	6500	SO:0001583	missense	6767				CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"Tetratricopeptide (TTC) repeat domain containing"	11343	protein-coding gene	gene with protein product	"progesterone receptor-associated p48 protein"	606796	"suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.730G>C	22.37:g.41226912C>G	ENSP00000216218:p.Glu244Gln		O14999|Q2TU77	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E244Q	ENST00000216218.3	37	c.730	CCDS14006.1	22	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020948	0.93462	.	.	ENSG00000100380	ENST00000216218	T	0.41400	1.0	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.87617	2.895	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.74979	-0.3479	10	0.56958	D	0.05	.	18.7044	0.91632	0.0:1.0:0.0:0.0	.	234;244	B4E0U6;P50502	.;F10A1_HUMAN	Q	244	ENSP00000216218:E244Q	ENSP00000216218:E244Q	E	-	1	0	ST13	39556858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.835000	0.75344	2.508000	0.84585	0.585000	0.79938	GAG	ST13	-	NULL		0.408	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST13	HGNC	protein_coding	OTTHUMT00000321759.1	C	NM_003932		41226912	-1	no_errors	ENST00000216218	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41226912	C	G	41226912	3	3	58	1	0	0	0	0	1	0	0	0	15240	922	32	1	395	1	ST13	22	41226912	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1183047	41226912	10077654	1312	9062										
TOB2	10766	genome.wustl.edu	37	chr22	41832381	41832381	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atggtgttcaggttgtagctGaggccttccacaaagggtgt	14	7	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:41832381G>A	ENST00000327492.3	-	2	1675	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	323					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L323L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGTTGTAGCTGAGGCCTTCCA	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											102	96	98					22																	41832381		2203	4300	6503	SO:0001819	synonymous_variant	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.969C>T	22.37:g.41832381G>A			Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Silent	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.L323	ENST00000327492.3	37	c.969	CCDS14015.1	22																																																																																			TOB2	-	NULL		0.597	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	G	NM_016272		41832381	-1	no_errors	ENST00000327492	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41832381	G	A	41832381	2	1	58	1	0	0	0	0	0	0	0	1	16378	1277	45	1		1	TOB2	22	41832381	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	605469	41832381	9472185	1313	9063										
PACSIN2	11252	genome.wustl.edu	37	chr22	43289475	43289475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccccatacctttctccacgaGctgcctccagcgccgggccc	8	21	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:43289475G>T	ENST00000263246.3	-	3	406	c.205C>A	c.(205-207)Ctc>Atc	p.L69I	PACSIN2_ENST00000337959.4_Missense_Mutation_p.L69I|PACSIN2_ENST00000407585.1_Missense_Mutation_p.L69I|PACSIN2_ENST00000403744.3_Missense_Mutation_p.L69I|PACSIN2_ENST00000402229.1_Missense_Mutation_p.L69I	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	69	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.L69I(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TTCTCCACGAGCTGCCTCCAG	0.672																																																	1	Substitution - Missense(1)	cervix(1)											28	32	30					22																	43289475		2085	4240	6325	SO:0001583	missense	11252			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.205C>A	22.37:g.43289475G>T	ENSP00000263246:p.Leu69Ile		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.L69I	ENST00000263246.3	37	c.205	CCDS43023.1	22	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892446	0.72524	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.49	4.49	0.54785	Fps/Fes/Fer/CIP4 homology (3);	0.185417	0.48767	D	0.000170	T	0.37461	0.1004	M	0.64567	1.98	0.80722	D	1	P;P	0.49559	0.732;0.925	P;D	0.63957	0.701;0.92	T	0.01697	-1.1293	10	0.25106	T	0.35	-12.0308	18.5054	0.90896	0.0:0.0:1.0:0.0	.	69;69	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	I	69	ENSP00000263246:L69I;ENSP00000338379:L69I;ENSP00000385952:L69I;ENSP00000385372:L69I;ENSP00000385040:L69I;ENSP00000398573:L69I;ENSP00000396816:L69I;ENSP00000403435:L69I	ENSP00000263246:L69I	L	-	1	0	PACSIN2	41619419	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	6.293000	0.72731	2.784000	0.95788	0.551000	0.68910	CTC	PACSIN2	-	pfam_FCH,smart_FCH,pfscan_FCH		0.672	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN2	HGNC	protein_coding	OTTHUMT00000319665.1	G	NM_007229		43289475	-1	no_errors	ENST00000263246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43289475	G	T	43289475	3	4	58	1	0	0	0	0	1	0	0	0	11399	971	34	4	1291	4	PACSIN2	22	43289475	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1457094	43289475	8015091	1314	9064										
BIK	638	genome.wustl.edu	37	chr22	43525228	43525228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgctcccacaggtgtcctgcGaacaggtgctgctggcgctg	14	13	0	0	rs532663391		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:43525228G>A	ENST00000216115.2	+	5	463	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	134					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)		p.E134K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGTGTCCTGCGAACAGGtgct	0.706													G|||	1	0.000199681	0	0	5008	,	,		14461	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											31	35	33					22																	43525228		2199	4282	6481	SO:0001583	missense	638			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.400G>A	22.37:g.43525228G>A	ENSP00000216115:p.Glu134Lys		Q16582|Q6FH93	Missense_Mutation	SNP	pfam_Bcl2-int_killer	p.E134K	ENST00000216115.2	37	c.400	CCDS14044.1	22	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017977	0.19355	.	.	ENSG00000100290	ENST00000216115	T	0.26373	1.74	4.24	-8.48	0.00935	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.28364	-1.0046	9	0.20046	T	0.44	4.4045	3.659	0.08232	0.281:0.4614:0.1573:0.1002	.	134	Q13323	BIK_HUMAN	K	134	ENSP00000216115:E134K	ENSP00000216115:E134K	E	+	1	0	BIK	41855172	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.502000	0.02279	-1.168000	0.02776	-0.254000	0.11334	GAA	BIK	-	pfam_Bcl2-int_killer		0.706	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIK	HGNC	protein_coding	OTTHUMT00000319676.1	G	NM_001197		43525228	1	no_errors	ENST00000216115	ensembl	human	known	70_37	missense	SNP	0.000	A	A	43525228	G	A	43525228	3	1	58	1	0	0	0	0	1	0	0	0	1432	1059	37	1	414	1	BIK	22	43525228	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	235753	43525228	7779338	1315	9065										
EFCAB6	64800	genome.wustl.edu	37	chr22	44112776	44112776	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tccaaggagtagtttctccaGatatcttcagatgatgcaga	9	8	3	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:44112776G>C	ENST00000262726.7	-	9	1087	c.834C>G	c.(832-834)atC>atG	p.I278M	EFCAB6_ENST00000356087.4_Missense_Mutation_p.I172M|EFCAB6_ENST00000358439.4_Missense_Mutation_p.I172M|EFCAB6_ENST00000396231.2_Missense_Mutation_p.I126M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I278M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGTTTCTCCAGATATCTTCAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											124	113	117					22																	44112776		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.834C>G	22.37:g.44112776G>C	ENSP00000262726:p.Ile278Met		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I278M	ENST00000262726.7	37	c.834	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	5.727	0.318578	0.10845	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.36699	2.45;2.45;1.42;1.24	4.45	2.29	0.28610	.	2.611370	0.01299	N	0.010242	T	0.31979	0.0814	L	0.34521	1.04	0.09310	N	0.999998	B;P;P;B	0.41569	0.189;0.755;0.493;0.148	B;B;B;B	0.42386	0.206;0.386;0.337;0.129	T	0.17715	-1.0360	10	0.22706	T	0.39	-0.5003	6.1577	0.20346	0.1029:0.1893:0.7078:0.0	.	172;172;278;278	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	M	126;278;172;172	ENSP00000379533:I126M;ENSP00000262726:I278M;ENSP00000351219:I172M;ENSP00000348391:I172M	ENSP00000262726:I278M	I	-	3	3	EFCAB6	42444109	0.033000	0.19621	0.404000	0.26397	0.005000	0.04900	0.335000	0.19806	0.581000	0.29539	0.585000	0.79938	ATC	EFCAB6	-	NULL		0.388	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	G	NM_022785		44112776	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.602	C	C	44112776	G	C	44112776	3	2	58	1	0	0	0	0	1	0	0	0	4949	932	33	1	3767	1	EFCAB6	22	44112776	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	587548	44112776	7191790	1316	9066										
PNPLA3	80339	genome.wustl.edu	37	chr22	44319878	44319878	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtcggggcgacccgctgcctGagcgagcacgccccgcacct	14	18	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:44319878G>A	ENST00000216180.3	+	1	260	c.87G>A	c.(85-87)ctG>ctA	p.L29L	PNPLA3_ENST00000423180.2_Silent_p.L29L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	29	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.L29L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCGCTGCCTGAGCGAGCACG	0.731																																																	1	Substitution - coding silent(1)	cervix(1)											13	14	14					22																	44319878		2171	4236	6407	SO:0001819	synonymous_variant	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.87G>A	22.37:g.44319878G>A			B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L29	ENST00000216180.3	37	c.87	CCDS14054.1	22																																																																																			PNPLA3	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.731	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	G	NM_025225		44319878	1	no_errors	ENST00000216180	ensembl	human	known	70_37	silent	SNP	0.998	A	A	44319878	G	A	44319878	2	1	58	1	0	0	0	0	0	0	0	1	12190	1277	45	1		1	PNPLA3	22	44319878	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	207102	44319878	6984688	1317	9067										
TRMU	55687	genome.wustl.edu	37	chr22	46733701	46733701	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggtgacaggggtgtttatGaagaactgggactcactgga	15	6	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:46733701G>A	ENST00000290846.4	+	2	448	c.108G>A	c.(106-108)atG>atA	p.M36I	TRMU_ENST00000424260.2_Start_Codon_SNP_p.M1I|TRMU_ENST00000381019.3_Missense_Mutation_p.M36I	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	36					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)	p.M36I(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GGGTGTTTATGAAGAACTGGG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											117	100	106					22																	46733701		2203	4300	6503	SO:0001583	missense	55687			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.108G>A	22.37:g.46733701G>A	ENSP00000290846:p.Met36Ile		A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.M36I	ENST00000290846.4	37	c.108	CCDS14075.1	22	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986752	0.93106	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.74737	-0.87;-0.87;-0.87	4.91	4.91	0.64330	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.97110	0.994;0.986;1.0	D	0.88629	0.3168	10	0.87932	D	0	-46.7692	17.7239	0.88360	0.0:0.0:1.0:0.0	.	36;36;36	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	I	36;36;1	ENSP00000290846:M36I;ENSP00000370407:M36I;ENSP00000406038:M1I	ENSP00000290846:M36I	M	+	3	0	TRMU	45112365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.324000	0.79115	2.256000	0.74724	0.557000	0.71058	ATG	TRMU	-	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase		0.468	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	G	NM_018006		46733701	1	no_errors	ENST00000290846	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46733701	G	A	46733701	3	1	58	1	0	0	0	0	1	0	0	0	16602	1290	45	1	114	1	TRMU	22	46733701	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2413823	46733701	4570865	1318	9068										
PLXNB2	23654	genome.wustl.edu	37	chr22	50728569	50728569	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccccactgtggccacgccctCatcattgctggccacgaaag	9	17	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:50728569C>T	ENST00000449103.1	-	3	585	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E149K			O15031	PLXB2_HUMAN	plexin B2	149	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.E192K(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCACGCCCTCATCATTGCTG	0.627																																																	1	Substitution - Missense(1)	cervix(1)											40	45	43					22																	50728569		2170	4257	6427	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.445G>A	22.37:g.50728569C>T	ENSP00000409171:p.Glu149Lys		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E149K	ENST00000449103.1	37	c.445	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095191	0.76870	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.09817	2.94;2.94;2.94;3.5	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.129253	0.35495	N	0.003169	T	0.23210	0.0561	L	0.56769	1.78	0.80722	D	1	P	0.50156	0.932	P	0.56474	0.799	T	0.02950	-1.1090	10	0.15499	T	0.54	.	17.6819	0.88246	0.0:1.0:0.0:0.0	.	149	O15031	PLXB2_HUMAN	K	149	ENSP00000409171:E149K;ENSP00000352288:E149K;ENSP00000392620:E149K;ENSP00000387470:E149K	ENSP00000352288:E149K	E	-	1	0	PLXNB2	49070696	0.990000	0.36364	0.359000	0.25824	0.291000	0.27294	4.333000	0.59285	2.404000	0.81709	0.561000	0.74099	GAG	PLXNB2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50728569	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.998	T	T	50728569	C	T	50728569	3	4	58	1	0	0	0	0	1	0	0	0	12148	835	29	1	5211	1	PLXNB2	22	50728569	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3994868	50728569	575997	1319	9069										
LMF2	91289	genome.wustl.edu	37	chr22	50943260	50943260	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtggccgtcgtaactgccctCcagcaccacctcaggccgtc	10	18	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:50943260C>A	ENST00000474879.2	-	10	1423	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Intron|LMF2_ENST00000216080.5_Nonsense_Mutation_p.E445*	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	470						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E445*(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAACTGCCCTCCAGCACCACC	0.701																																																	1	Substitution - Nonsense(1)	cervix(1)											17	20	19					22																	50943260		2195	4282	6477	SO:0001587	stop_gained	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1408G>T	22.37:g.50943260C>A	ENSP00000424381:p.Glu470*		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Nonsense_Mutation	SNP	pfam_LMF	p.E470*	ENST00000474879.2	37	c.1408	CCDS14093.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.122063|6.122063	0.97300|0.97300	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000474879;ENST00000216080|ENST00000487499	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.123056|.	0.51477|.	D|.	0.000082|.	.|T	.|0.71256	.|0.3318	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70799	.|-0.4774	.|4	0.87932|.	D|.	0|.	0.0867|0.0867	15.4514|15.4514	0.75277|0.75277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	470;445|476	.|.	ENSP00000216080:E445X|.	E|G	-|-	1|2	0|0	LMF2|LMF2	49290126|49290126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	4.236000|4.236000	0.58675|0.58675	2.230000|2.230000	0.72887|0.72887	0.655000|0.655000	0.94253|0.94253	GAG|GGA	LMF2	-	pfam_LMF		0.701	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	C	NM_033200		50943260	-1	no_errors	ENST00000474879	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	50943260	C	A	50943260	4	1	58	1	0	0	0	0	0	1	0	0	8867	864	30	3	735	3	LMF2	22	50943260	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	214691	50943260	361306	1320	9070										
NCAPH2	29781	genome.wustl.edu	37	chr22	50957693	50957693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aggaggcagtagagcttcctGaggcctcggcccccaaggcc	14	14	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:50957693G>C	ENST00000420993.2	+	9	927	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	NCAPH2_ENST00000395698.3_Missense_Mutation_p.E269Q|NCAPH2_ENST00000299821.11_Missense_Mutation_p.E269Q|NCAPH2_ENST00000395701.3_Missense_Mutation_p.E269Q	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	269					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.E269Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGAGCTTCCTGAGGCCTCGGC	0.662																																																	2	Substitution - Missense(2)	cervix(2)											25	33	30					22																	50957693		2198	4299	6497	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.805G>C	22.37:g.50957693G>C	ENSP00000410088:p.Glu269Gln		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.E269Q	ENST00000420993.2	37	c.805	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541608	0.45280	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	3.93	2.9	0.33743	.	1.031210	0.07772	N	0.951956	T	0.60650	0.2285	M	0.65975	2.015	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.996	D;D;D;D;D	0.87578	0.961;0.997;0.997;0.998;0.986	T	0.37596	-0.9699	9	0.46703	T	0.11	-6.5649	7.7312	0.28788	0.1214:0.0:0.8786:0.0	.	269;269;247;269;269	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;.;CNDH2_HUMAN;.	Q	269;269;269;235;269	.	ENSP00000299821:E269Q	E	+	1	0	NCAPH2	49304559	0.920000	0.31207	0.049000	0.19019	0.141000	0.21300	2.637000	0.46553	0.775000	0.33450	0.462000	0.41574	GAG	NCAPH2	-	pfam_Condensin_II_H2-like		0.662	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50957693	1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.016	C	C	50957693	G	C	50957693	3	2	58	1	0	0	0	0	1	0	0	0	10234	1291	45	1	839	1	NCAPH2	22	50957693	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	14433	50957693	346873	1321	9071										
CHKB	1120	genome.wustl.edu	37	chr22	51020270	51020270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tatggcgaacatcacgctttCtagcaccagggagtccacgc	10	13	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:51020270C>G	ENST00000406938.2	-	3	572	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000434492.2_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	119					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.E119Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ATCACGCTTTCTAGCACCAGG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											71	72	72					22																	51020270		2203	4300	6503	SO:0001583	missense	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.355G>C	22.37:g.51020270C>G	ENSP00000384400:p.Glu119Gln		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E119Q	ENST00000406938.2	37	c.355	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	C	26.6	4.758090	0.89843	.	.	ENSG00000100288	ENST00000406938	T	0.77358	-1.09	4.97	4.97	0.65823	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94601	0.7796	10	0.87932	D	0	-23.2823	15.727	0.77770	0.0:1.0:0.0:0.0	.	119	Q9Y259	CHKB_HUMAN	Q	119	ENSP00000384400:E119Q	ENSP00000384400:E119Q	E	-	1	0	CHKB	49367136	1.000000	0.71417	0.836000	0.33094	0.645000	0.38454	5.770000	0.68873	2.293000	0.77203	0.555000	0.69702	GAA	CHKB	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.617	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	C	NM_005198		51020270	-1	no_errors	ENST00000406938	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51020270	C	G	51020270	3	3	58	1	0	0	0	0	1	0	0	0	3353	922	32	1	868	1	CHKB	22	51020270	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	62577	51020270	284296	1322	9072										
IL3RA	3563	genome.wustl.edu	37	chrX	1497563	1497563	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacccctagagtgcgaccagGaggagggcgcaaacacacgt	13	12	0	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:1497563G>C	ENST00000331035.4	+	10	1235	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	IL3RA_ENST00000381469.2_Missense_Mutation_p.E218Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	296					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.E296Q(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGCGACCAGGAGGAGGGCGC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											105	83	91					X																	1497563		2200	4295	6495	SO:0001583	missense	3563			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.886G>C	X.37:g.1497563G>C	ENSP00000327890:p.Glu296Gln		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.E296Q	ENST00000331035.4	37	c.886	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	5.838	0.338922	0.11069	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.96011	1.42;-3.88	0.568	0.568	0.17333	.	692.694000	0.00824	U	0.001611	D	0.92492	0.7616	L	0.29908	0.895	0.09310	N	1	P;D	0.54964	0.833;0.969	P;B	0.47015	0.534;0.425	D	0.85757	0.1347	9	0.22109	T	0.4	.	.	.	.	.	217;296	P26951-2;P26951	.;IL3RA_HUMAN	Q	296;218	ENSP00000327890:E296Q;ENSP00000370878:E218Q	ENSP00000327890:E296Q	E	+	1	0	IL3RA	1457563	0.002000	0.14202	0.004000	0.12327	0.057000	0.15508	0.037000	0.13840	0.567000	0.29293	0.402000	0.26972	GAG	IL3RA	-	NULL		0.667	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	G			1497563	1	no_errors	ENST00000331035	ensembl	human	known	70_37	missense	SNP	0.004	C	C	1497563	G	C	1497563	3	2	58	1	0	0	0	0	1	0	0	0	7715	1175	41	1	920	1	IL3RA	23	1497563	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08		1497563	153772997	1323	9073										
NLGN4X	57502	genome.wustl.edu	37	chrX	5821162	5821162	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	taggtcatgaccacggcgctGagcatgacgtcgttcttgga	13	10	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:5821162G>A	ENST00000381095.3	-	5	2184	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	NLGN4X_ENST00000381092.1_Silent_p.L519L|NLGN4X_ENST00000275857.6_Silent_p.L519L|NLGN4X_ENST00000538097.1_Silent_p.L519L|NLGN4X_ENST00000381093.2_Silent_p.L539L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	519					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.L519L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCACGGCGCTGAGCATGACGT	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											133	103	113					X																	5821162		2203	4300	6503	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1557C>T	X.37:g.5821162G>A			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L539	ENST00000381095.3	37	c.1617	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB		0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821162	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.990	A	A	5821162	G	A	5821162	2	1	58	1	0	0	0	0	0	0	0	1	10488	1277	45	1		1	NLGN4X	23	5821162	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4323599	5821162	149449398	1324	9074										
NLGN4X	57502	genome.wustl.edu	37	chrX	6069406	6069406	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctgtcaatgagggtgaacttGatggcaagagcagttaacca	12	7	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:6069406G>C	ENST00000381095.3	-	2	729	c.102C>G	c.(100-102)atC>atG	p.I34M	NLGN4X_ENST00000381092.1_Missense_Mutation_p.I34M|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I34M|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I34M|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I34M	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	34					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.I34M(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGAACTTGATGGCAAGAG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											126	98	108					X																	6069406		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.102C>G	X.37:g.6069406G>C	ENSP00000370485:p.Ile34Met		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.I34M	ENST00000381095.3	37	c.102	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	2.510	-0.313257	0.05422	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.07	1.47	0.22746	Carboxylesterase, type B (1);	.	.	.	.	T	0.58779	0.2146	L	0.36672	1.1	0.09310	N	1	B;B;B	0.29508	0.135;0.246;0.207	B;B;B	0.41619	0.361;0.285;0.188	T	0.53272	-0.8462	9	0.33940	T	0.23	.	5.0113	0.14313	0.157:0.0:0.5151:0.3279	.	34;34;34	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	M	34	ENSP00000370485:I34M;ENSP00000370483:I34M;ENSP00000275857:I34M;ENSP00000370482:I34M;ENSP00000439203:I34M	ENSP00000275857:I34M	I	-	3	3	NLGN4X	6079406	0.973000	0.33851	0.015000	0.15790	0.632000	0.37999	1.364000	0.34171	0.399000	0.25367	0.513000	0.50165	ATC	NLGN4X	-	pfam_CarbesteraseB		0.498	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		6069406	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	0.004	C	C	6069406	G	C	6069406	3	2	58	1	0	0	0	0	1	0	0	0	10488	1280	45	1	2368	1	NLGN4X	23	6069406	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	248244	6069406	149201154	1325	9075										
KAL1	3730	genome.wustl.edu	37	chrX	8507779	8507779	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttcaggaaaccaccgcacatGatatcggttgacagtgggat	11	9	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:8507779G>C	ENST00000262648.3	-	10	1524	c.1375C>G	c.(1375-1377)Cat>Gat	p.H459D	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	459	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H459D(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CACCGCACATGATATCGGTTG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											137	101	113					X																	8507779		2203	4300	6503	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1375C>G	X.37:g.8507779G>C	ENSP00000262648:p.His459Asp		B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core	p.H459D	ENST00000262648.3	37	c.1375	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044829	0.36085	.	.	ENSG00000011201	ENST00000262648	T	0.53423	0.62	3.54	3.54	0.40534	Fibronectin, type III (2);	0.114714	0.64402	U	0.000017	T	0.48447	0.1500	M	0.67953	2.075	0.35543	D	0.803211	P	0.34546	0.456	B	0.40659	0.336	T	0.56360	-0.7992	10	0.19590	T	0.45	-19.8419	12.2754	0.54733	0.0:0.0:1.0:0.0	.	459	P23352	KALM_HUMAN	D	459	ENSP00000262648:H459D	ENSP00000262648:H459D	H	-	1	0	KAL1	8467779	1.000000	0.71417	0.069000	0.20011	0.021000	0.10359	5.202000	0.65169	1.517000	0.48917	0.600000	0.82982	CAT	KAL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1	G	NM_000216		8507779	-1	no_errors	ENST00000262648	ensembl	human	known	70_37	missense	SNP	0.998	C	C	8507779	G	C	8507779	3	2	58	1	0	0	0	0	1	0	0	0	7994	1290	45	1	687	1	KAL1	23	8507779	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	2438373	8507779	146762781	1326	9076										
MSL3	10943	genome.wustl.edu	37	chrX	11790741	11790741	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcctttatttttaatgcagtGaaacttccagaaatccttgg	7	8	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:11790741G>T	ENST00000312196.4	+	12	1488	c.1383G>T	c.(1381-1383)gtG>gtT	p.V461V	MSL3_ENST00000361672.2_Splice_Site_p.V312V|MSL3_ENST00000398527.2_Splice_Site_p.V449V|MSL3_ENST00000380693.3_Splice_Site_p.V295V	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	461	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V461V(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTAATGCAGTGAAACTTCCAG	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											76	68	71					X																	11790741		2203	4300	6503	SO:0001630	splice_region_variant	10943			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1382-1G>T	X.37:g.11790741G>T			A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.V461	ENST00000312196.4	37	c.1383	CCDS14147.1	X																																																																																			MSL3	-	pfam_MRG_dom		0.368	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	G	NM_006800	Silent	11790741	1	no_errors	ENST00000312196	ensembl	human	known	70_37	silent	SNP	0.987	T	T	11790741	G	T	11790741	5	4	58	1	0	0	0	0	0	0	1	0	9902	1304	45	3	1509	3	MSL3	23	11790741	Splice_Site	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3282962	11790741	143479819	1327	9077										
ASB9	140462	genome.wustl.edu	37	chrX	15266972	15266972	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtgtccgctccaaaatccatGagcaggcaggccagctcttc	10	14	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:15266972G>C	ENST00000380488.4	-	6	927	c.654C>G	c.(652-654)ctC>ctG	p.L218L	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Silent_p.L218L|ASB9_ENST00000380483.3_Silent_p.L208L|ASB9_ENST00000546332.1_Silent_p.L218L	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	218					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.L218L(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CAAAATCCATGAGCAGGCAGG	0.582																																																	2	Substitution - coding silent(2)	cervix(2)											80	68	72					X																	15266972		2203	4300	6503	SO:0001819	synonymous_variant	140462			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.654C>G	X.37:g.15266972G>C			A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L218	ENST00000380488.4	37	c.654	CCDS35208.1	X																																																																																			ASB9	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB9	HGNC	protein_coding	OTTHUMT00000055844.1	G			15266972	-1	no_errors	ENST00000380488	ensembl	human	known	70_37	silent	SNP	0.955	C	C	15266972	G	C	15266972	2	2	58	1	0	0	0	0	0	0	0	1	1031	1277	45	1		1	ASB9	23	15266972	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3476231	15266972	140003588	1328	9078										
PHKA2	5256	genome.wustl.edu	37	chrX	18942509	18942509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctggagttactgagcatggtGcgactgatggggaaggtgag	18	5	0	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:18942509G>A	ENST00000379942.4	-	16	2369	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	568					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R568R(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGAGCATGGTGCGACTGATGG	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											134	121	125					X																	18942509		2203	4300	6503	SO:0001819	synonymous_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1704C>T	X.37:g.18942509G>A			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R568	ENST00000379942.4	37	c.1704	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	G	NM_000292		18942509	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18942509	G	A	18942509	2	1	58	1	0	0	0	0	0	0	0	1	11868	1306	46	4		4	PHKA2	23	18942509	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3675537	18942509	136328051	1329	9079										
GPR64	10149	genome.wustl.edu	37	chrX	19049108	19049108	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acacaagaactaacctgagtCattgcaaatagatgacaaat	6	8	1	4			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:19049108C>T	ENST00000379869.3	-	9	515	c.352G>A	c.(352-354)Gac>Aac	p.D118N	GPR64_ENST00000357544.3_Missense_Mutation_p.D88N|GPR64_ENST00000340581.3_Missense_Mutation_p.D88N|GPR64_ENST00000356606.4_Missense_Mutation_p.D104N|GPR64_ENST00000379876.1_Missense_Mutation_p.D94N|GPR64_ENST00000354791.3_Missense_Mutation_p.D102N|GPR64_ENST00000379878.3_Missense_Mutation_p.D102N|GPR64_ENST00000379873.2_Missense_Mutation_p.D118N|GPR64_ENST00000357991.3_Missense_Mutation_p.D115N|GPR64_ENST00000360279.4_Missense_Mutation_p.D96N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	118					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.D115N(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAACCTGAGTCATTGCAAATA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											159	154	155					X																	19049108		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.352G>A	X.37:g.19049108C>T	ENSP00000369198:p.Asp118Asn		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D118N	ENST00000379869.3	37	c.352	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208264	0.58343	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	T;T;T;T;T;T;T;T;T;T	0.39997	1.23;1.34;1.34;1.37;1.36;1.39;1.36;1.39;1.38;1.05	5.56	3.8	0.43715	.	0.114348	0.38005	N	0.001859	T	0.26412	0.0645	N	0.17082	0.46	0.24403	N	0.994693	B;B;B;B;B;B;B;B;B;B;B	0.12630	0.006;0.003;0.003;0.003;0.003;0.006;0.003;0.003;0.003;0.002;0.002	B;B;B;B;B;B;B;B;B;B;B	0.20577	0.008;0.012;0.012;0.012;0.012;0.03;0.012;0.012;0.012;0.005;0.005	T	0.22103	-1.0226	10	0.87932	D	0	.	7.8088	0.29219	0.0:0.8041:0.0:0.1959	.	88;80;88;94;102;118;96;104;115;118;102	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	N	118;102;102;94;88;118;96;115;104;88;41	ENSP00000369202:D118N;ENSP00000369207:D102N;ENSP00000346845:D102N;ENSP00000369205:D94N;ENSP00000350152:D88N;ENSP00000369198:D118N;ENSP00000353421:D96N;ENSP00000350680:D115N;ENSP00000349015:D104N;ENSP00000344972:D88N	ENSP00000344972:D88N	D	-	1	0	GPR64	18959029	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.348000	0.33987	0.626000	0.30322	0.594000	0.82650	GAC	GPR64	-	NULL		0.388	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19049108	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19049108	C	T	19049108	3	4	58	1	0	0	0	0	1	0	0	0	6724	826	29	1	2785	1	GPR64	23	19049108	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	106599	19049108	136221452	1330	9080										
PHEX	5251	genome.wustl.edu	37	chrX	22051181	22051181	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaaggccaacagaggcactCgaattgccctggtcgtgttt	12	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:22051181C>T	ENST00000379374.4	+	1	623	c.58C>T	c.(58-60)Cga>Tga	p.R20*	PHEX_ENST00000537599.1_Nonsense_Mutation_p.R20*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	20					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R20*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGAGGCACTCGAATTGCCCT	0.557																																																	1	Substitution - Nonsense(1)	cervix(1)	GRCh37	CM971148	PHEX	M							246	170	196					X																	22051181		2203	4300	6503	SO:0001587	stop_gained	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.58C>T	X.37:g.22051181C>T	ENSP00000368682:p.Arg20*		O00678|Q13646|Q2M325|Q93032|Q99827	Nonsense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R20*	ENST00000379374.4	37	c.58	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.277459	0.98182	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	.	.	.	5.84	4.01	0.46588	.	0.350128	0.30193	N	0.010185	.	.	.	.	.	.	0.20975	N	0.999814	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8023	0.57593	0.2971:0.7029:0.0:0.0	.	.	.	.	X	20	.	ENSP00000368682:R20X	R	+	1	2	PHEX	21961102	0.451000	0.25705	0.017000	0.16124	0.023000	0.10783	1.667000	0.37471	0.555000	0.29079	0.594000	0.82650	CGA	PHEX	-	NULL		0.557	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	C	NM_000444		22051181	1	no_errors	ENST00000379374	ensembl	human	known	70_37	nonsense	SNP	0.011	T	T	22051181	C	T	22051181	4	4	58	1	0	0	0	0	0	1	0	0	11843	876	31	1	60	1	PHEX	23	22051181	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3002073	22051181	133219379	1331	9081										
BCOR	54880	genome.wustl.edu	37	chrX	39932327	39932327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaccgattccggagggttgGgtcctcgtaacgggctctct	13	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:39932327G>T	ENST00000378444.4	-	4	2500	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	BCOR_ENST00000378455.4_Missense_Mutation_p.P758T|BCOR_ENST00000342274.4_Missense_Mutation_p.P758T|BCOR_ENST00000397354.3_Missense_Mutation_p.P758T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	758					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P758T(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGAGGGTTGGGTCCTCGTAA	0.522			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Substitution - Missense(1)	cervix(1)											116	110	112					X																	39932327		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2272C>A	X.37:g.39932327G>T	ENSP00000367705:p.Pro758Thr		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P758T	ENST00000378444.4	37	c.2272	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203026	0.58234	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.49	3.67	0.42095	.	.	.	.	.	T	0.19846	0.0477	L	0.27053	0.805	0.36761	D	0.883298	P;P;P;P	0.52061	0.95;0.9;0.917;0.9	P;P;P;P	0.50896	0.653;0.493;0.451;0.493	T	0.12426	-1.0548	9	0.72032	D	0.01	-6.5645	6.4766	0.22039	0.1578:0.1501:0.6921:0.0	.	758;758;758;758	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	758;758;758;758;758;165	ENSP00000367716:P758T;ENSP00000380512:P758T;ENSP00000367705:P758T;ENSP00000345923:P758T;ENSP00000384485:P758T	ENSP00000345923:P758T	P	-	1	0	BCOR	39817271	0.997000	0.39634	0.981000	0.43875	0.679000	0.39708	1.412000	0.34714	1.034000	0.39945	0.513000	0.50165	CCA	BCOR	-	NULL		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39932327	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	0.999	T	T	39932327	G	T	39932327	3	4	58	1	0	0	0	0	1	0	0	0	1387	1232	43	4	3043	4	BCOR	23	39932327	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	17881146	39932327	115338233	1332	9082										
MAOA	4128	genome.wustl.edu	37	chrX	43515648	43515648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gttcgacgtagtcgtgatcgGaggtggcatttcaggtcagt	15	7	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:43515648G>A	ENST00000338702.3	+	1	182	c.59G>A	c.(58-60)gGa>gAa	p.G20E	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	20					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.G20E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GTCGTGATCGGAGGTGGCATT	0.602																																																	1	Substitution - Missense(1)	cervix(1)											140	80	101					X																	43515648		2203	4300	6503	SO:0001583	missense	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.59G>A	X.37:g.43515648G>A	ENSP00000340684:p.Gly20Glu		B4DF46|Q16426	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.G20E	ENST00000338702.3	37	c.59	CCDS14260.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960117	0.74016	.	.	ENSG00000189221	ENST00000338702	D	0.85258	-1.96	4.11	4.11	0.48088	.	0.224065	0.46145	D	0.000311	D	0.94447	0.8213	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95106	0.8234	10	0.87932	D	0	.	10.7166	0.46015	0.0:0.0:1.0:0.0	.	20	P21397	AOFA_HUMAN	E	20	ENSP00000340684:G20E	ENSP00000340684:G20E	G	+	2	0	MAOA	43400592	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.888000	0.56204	2.291000	0.77112	0.508000	0.49915	GGA	MAOA	-	pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase		0.602	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	G	NM_000240		43515648	1	no_errors	ENST00000338702	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43515648	G	A	43515648	3	1	58	1	0	0	0	0	1	0	0	0	9248	1174	41	1	61	1	MAOA	23	43515648	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3583321	43515648	111754912	1333	9083										
SLC9A7	84679	genome.wustl.edu	37	chrX	46522066	46522066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	catgcaattcattaaatatcGccagcacagtcactgaaaag	6	10	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:46522066G>A	ENST00000328306.4	-	6	831	c.806C>T	c.(805-807)gCg>gTg	p.A269V		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	269					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.A269V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						ATTAAATATCGCCAGCACAGT	0.398																																					Pancreas(118;454 1696 1930 13865 39976)												1	Substitution - Missense(1)	cervix(1)											88	68	75					X																	46522066		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.806C>T	X.37:g.46522066G>A	ENSP00000330320:p.Ala269Val		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A269V	ENST00000328306.4	37	c.806	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.203073	0.95033	.	.	ENSG00000065923	ENST00000328306	T	0.18338	2.22	5.09	5.09	0.68999	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59521	-0.7439	10	0.87932	D	0	.	17.8859	0.88854	0.0:0.0:1.0:0.0	.	40;269	B3KPP8;Q96T83	.;SL9A7_HUMAN	V	269	ENSP00000330320:A269V	ENSP00000330320:A269V	A	-	2	0	SLC9A7	46407010	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.287000	0.95975	2.244000	0.73946	0.600000	0.82982	GCG	SLC9A7	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.398	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	G	NM_032591		46522066	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46522066	G	A	46522066	3	1	58	1	0	0	0	0	1	0	0	0	14749	1087	38	2	1419	2	SLC9A7	23	46522066	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3006418	46522066	108748494	1334	9084										
RBM10	8241	genome.wustl.edu	37	chrX	47034434	47034434	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccaggtcagagccggggcttCgccttcgtcgagtttagtca	13	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47034434C>T	ENST00000377604.3	+	6	1261	c.519C>T	c.(517-519)ttC>ttT	p.F173F	RBM10_ENST00000329236.7_Silent_p.F96F|RBM10_ENST00000345781.6_Silent_p.F96F	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	173	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.F173F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCCGGGGCTTCGCCTTCGTCG	0.577																																					Melanoma(171;120 2705 19495 39241)												1	Substitution - coding silent(1)	cervix(1)											87	74	79					X																	47034434		2203	4300	6503	SO:0001819	synonymous_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.519C>T	X.37:g.47034434C>T			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.F173	ENST00000377604.3	37	c.519	CCDS14274.1	X																																																																																			RBM10	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.577	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	C	NM_005676		47034434	1	no_errors	ENST00000377604	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47034434	C	T	47034434	2	4	58	1	0	0	0	0	0	0	0	1	13141	883	31	1		1	RBM10	23	47034434	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	512368	47034434	108236126	1335	9085										
UBA1	7317	genome.wustl.edu	37	chrX	47071825	47071825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gtccctttcttcatgcagatGacagtcgtctagaggagctc	10	11	3	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47071825G>A	ENST00000335972.6	+	21	2650	c.2467G>A	c.(2467-2469)Gac>Aac	p.D823N	UBA1_ENST00000377269.3_Missense_Mutation_p.D271N|UBA1_ENST00000377351.4_Missense_Mutation_p.D823N	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	823					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.D823N(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCATGCAGATGACAGTCGTCT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											57	41	47					X																	47071825		2202	4300	6502	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2467G>A	X.37:g.47071825G>A	ENSP00000338413:p.Asp823Asn		Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.D823N	ENST00000335972.6	37	c.2467	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866912	0.51588	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.47177	0.85;0.85;0.85	5.01	5.01	0.66863	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.56097	D	0.000028	T	0.46983	0.1421	M	0.62209	1.925	0.58432	D	0.999997	B;B	0.26809	0.111;0.16	B;B	0.25140	0.045;0.058	T	0.41893	-0.9483	10	0.30854	T	0.27	-19.5419	16.4019	0.83643	0.0:0.0:1.0:0.0	.	271;823	Q5JRR6;P22314	.;UBA1_HUMAN	N	823;823;271	ENSP00000366568:D823N;ENSP00000338413:D823N;ENSP00000366481:D271N	ENSP00000338413:D823N	D	+	1	0	UBA1	46956769	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.899000	0.63245	2.214000	0.71695	0.523000	0.50628	GAC	UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.527	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	G	NM_003334		47071825	1	no_errors	ENST00000335972	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47071825	G	A	47071825	3	1	58	1	0	0	0	0	1	0	0	0	16858	1290	45	1	2545	1	UBA1	23	47071825	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	37391	47071825	108198735	1336	9086										
USP11	8237	genome.wustl.edu	37	chrX	47106541	47106541	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtggatgctgccggagattCtcatcatccacctgaaacgc	10	12	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47106541C>G	ENST00000218348.3	+	18	2470	c.2470C>G	c.(2470-2472)Ctc>Gtc	p.L824V	USP11_ENST00000377107.2_Missense_Mutation_p.L781V	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	824	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.L824V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCCGGAGATTCTCATCATCCA	0.567																																																	1	Substitution - Missense(1)	cervix(1)											85	64	71					X																	47106541		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2470C>G	X.37:g.47106541C>G	ENSP00000218348:p.Leu824Val		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L824V	ENST00000218348.3	37	c.2470	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	c	19.06	3.754448	0.69648	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.70516	-0.49;-0.49	5.5	3.74	0.42951	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.148190	0.45361	N	0.000363	D	0.82912	0.5140	M	0.80183	2.485	0.43061	D	0.994686	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	T	0.83349	-0.0004	10	0.87932	D	0	-21.5941	10.8301	0.46654	0.0:0.8583:0.0:0.1417	.	550;824	B3KP28;P51784	.;UBP11_HUMAN	V	781;824	ENSP00000366311:L781V;ENSP00000218348:L824V	ENSP00000218348:L824V	L	+	1	0	USP11	46991485	0.980000	0.34600	0.937000	0.37676	0.878000	0.50629	2.575000	0.46025	0.516000	0.28340	0.431000	0.28591	CTC	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		C	NM_004651		47106541	1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47106541	C	G	47106541	3	3	58	1	0	0	0	0	1	0	0	0	17073	913	32	1	2540	1	USP11	23	47106541	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	34716	47106541	108164019	1337	9087										
ZNF41	7592	genome.wustl.edu	37	chrX	47307881	47307881	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ctctcccgtgtggattctctGatgcatcctgagtgctgatt	10	11	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47307881G>C	ENST00000377065.4	-	5	1927	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.Q430E|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q440E	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q430E(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGGATTCTCTGATGCATCCTG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											120	110	113					X																	47307881		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1288C>G	X.37:g.47307881G>C	ENSP00000366265:p.Gln430Glu		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q440E	ENST00000377065.4	37	c.1318	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767578	0.49574	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07327	3.2;3.2;3.2	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.244785	0.21385	N	0.075420	T	0.17662	0.0424	L	0.37750	1.13	0.21719	N	0.999573	B;P;D;P;P	0.64830	0.406;0.549;0.994;0.549;0.604	B;B;D;B;B	0.68765	0.032;0.032;0.96;0.032;0.054	T	0.01504	-1.1338	10	0.66056	D	0.02	.	12.3538	0.55163	0.0:0.0:1.0:0.0	.	430;432;440;464;472	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	E	430;430;440	ENSP00000315173:Q430E;ENSP00000366265:Q430E;ENSP00000380243:Q440E	ENSP00000315173:Q430E	Q	-	1	0	ZNF41	47192825	0.804000	0.28969	1.000000	0.80357	0.997000	0.91878	0.590000	0.23954	2.063000	0.61619	0.600000	0.82982	CAG	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	G	NM_153380		47307881	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47307881	G	C	47307881	3	2	58	1	0	0	0	0	1	0	0	0	17919	1299	45	1	1055	1	ZNF41	23	47307881	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	201340	47307881	107962679	1338	9088										
SYN1	6853	genome.wustl.edu	37	chrX	47435781	47435781	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcagagccagtattggtcttCcagttccctgacactgacgt	10	12	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47435781C>T	ENST00000295987.7	-	8	1129	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	SYN1_ENST00000340666.4_Nonsense_Mutation_p.W335*	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	335	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.W335*(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TATTGGTCTTCCAGTTCCCTG	0.617																																																	2	Substitution - Nonsense(2)	cervix(2)											77	64	69					X																	47435781		2203	4300	6503	SO:0001587	stop_gained	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1005G>A	X.37:g.47435781C>T	ENSP00000295987:p.Trp335*		B1AJQ1|O75825|Q5H9A9	Nonsense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.W335*	ENST00000295987.7	37	c.1005	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	c	33	5.219099	0.95104	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	.	.	.	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5281	12.8445	0.57821	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000295987:W335X	W	-	3	0	SYN1	47320725	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	7.248000	0.78268	1.879000	0.54435	0.540000	0.68198	TGG	SYN1	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type,prints_Synapsin		0.617	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	C	NM_006950		47435781	-1	no_errors	ENST00000295987	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47435781	C	T	47435781	4	4	58	1	0	0	0	0	0	1	0	0	15470	856	30	1	1136	1	SYN1	23	47435781	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	127900	47435781	107834779	1339	9089										
PORCN	64840	genome.wustl.edu	37	chrX	48371091	48371091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	acttcatccccctcaacggtGaccgcctccttcgcaagtga	7	17	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:48371091G>C	ENST00000326194.6	+	5	713	c.670G>C	c.(670-672)Gac>Cac	p.D224H	PORCN_ENST00000367574.4_Missense_Mutation_p.D153H|PORCN_ENST00000361988.3_Missense_Mutation_p.D224H|PORCN_ENST00000359882.4_Missense_Mutation_p.D224H|PORCN_ENST00000537758.1_Missense_Mutation_p.D224H|PORCN_ENST00000355092.3_Missense_Mutation_p.D224H|PORCN_ENST00000355961.4_Missense_Mutation_p.D224H	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	224					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.D224H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCAACGGTGACCGCCTCCT	0.647																																																	1	Substitution - Missense(1)	cervix(1)											71	62	65					X																	48371091		2203	4300	6503	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.670G>C	X.37:g.48371091G>C	ENSP00000322304:p.Asp224His		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.D224H	ENST00000326194.6	37	c.670	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419023	0.62622	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.44	5.44	0.79542	.	0.096519	0.64402	D	0.000001	T	0.78521	0.4296	L	0.47716	1.5	0.51482	D	0.999923	P;P;P;P;P	0.51537	0.935;0.946;0.946;0.935;0.935	P;P;P;P;P	0.56163	0.685;0.793;0.717;0.685;0.705	T	0.76908	-0.2785	10	0.34782	T	0.22	-23.3194	15.5884	0.76506	0.0:0.0:1.0:0.0	.	224;224;153;224;224	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	H	224;224;153;224;224;224;224	ENSP00000352946:D224H;ENSP00000446401:D224H;ENSP00000356546:D153H;ENSP00000348233:D224H;ENSP00000354978:D224H;ENSP00000322304:D224H;ENSP00000347207:D224H	ENSP00000322304:D224H	D	+	1	0	PORCN	48256035	1.000000	0.71417	0.994000	0.49952	0.834000	0.47266	4.579000	0.60936	2.275000	0.75901	0.436000	0.28706	GAC	PORCN	-	pfam_MBOAT_fam		0.647	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	G	NM_022825		48371091	1	no_errors	ENST00000326194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48371091	G	C	48371091	3	2	58	1	0	0	0	0	1	0	0	0	12282	1290	45	1	688	1	PORCN	23	48371091	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	935310	48371091	106899469	1340	9090										
GATA1	2623	genome.wustl.edu	37	chrX	48650370	48650370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caactgtgtgtcccacccgcGaggactctcctccccaggcc	9	19	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:48650370G>A	ENST00000376670.3	+	3	451	c.340G>A	c.(340-342)Gag>Aag	p.E114K	GATA1_ENST00000376665.3_Missense_Mutation_p.E114K	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	114					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V77_A120>A(1)|p.E114K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCCCACCCGCGAGGACTCTCC	0.622			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	4	Unknown(2)|Substitution - Missense(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(3)|cervix(1)											52	47	49					X																	48650370		2203	4300	6503	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.340G>A	X.37:g.48650370G>A	ENSP00000365858:p.Glu114Lys		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.E114K	ENST00000376670.3	37	c.340	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254560	0.22965	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97480	-4.4;-4.21	4.6	4.6	0.57074	.	1.386620	0.04651	N	0.407052	D	0.92721	0.7686	L	0.40543	1.245	0.33143	D	0.544643	P	0.48998	0.918	B	0.33454	0.164	D	0.86165	0.1596	10	0.06757	T	0.87	-11.5864	9.4537	0.38743	0.0:0.0:0.7884:0.2115	.	114	P15976	GATA1_HUMAN	K	114	ENSP00000365858:E114K;ENSP00000365853:E114K	ENSP00000365853:E114K	E	+	1	0	GATA1	48535314	0.998000	0.40836	0.758000	0.31321	0.733000	0.41908	2.990000	0.49401	1.873000	0.54277	0.492000	0.49549	GAG	GATA1	-	pirsf_TF_GATA-1/2/3		0.622	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	G	NM_002049		48650370	1	no_errors	ENST00000376670	ensembl	human	known	70_37	missense	SNP	0.962	A	A	48650370	G	A	48650370	3	1	58	1	0	0	0	0	1	0	0	0	6272	1059	37	1	346	1	GATA1	23	48650370	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	279279	48650370	106620190	1341	9091										
CCNB3	85417	genome.wustl.edu	37	chrX	50028215	50028215	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aacctgtgcctaagaaatctCagtccagcaaaattgtgccc	7	12	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:50028215C>G	ENST00000376042.1	+	3	350	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	CCNB3_ENST00000376038.1_Missense_Mutation_p.Q18E|CCNB3_ENST00000493507.1_3'UTR|CCNB3_ENST00000348603.2_Missense_Mutation_p.Q18E|CCNB3_ENST00000276014.7_Missense_Mutation_p.Q18E			Q8WWL7	CCNB3_HUMAN	cyclin B3	18					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAAGAAATCTCAGTCCAGCAA	0.478																																																	0													133	106	115					X																	50028215		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.52C>G	X.37:g.50028215C>G	ENSP00000365210:p.Gln18Glu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.Q18E	ENST00000376042.1	37	c.52	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663868	0.29515	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000396540;ENST00000276014	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	4.33	2.49	0.30216	.	.	.	.	.	T	0.08537	0.0212	L	0.38175	1.15	0.09310	N	1	P;P	0.46987	0.525;0.888	B;B	0.42163	0.164;0.378	T	0.24657	-1.0154	8	.	.	.	.	4.1674	0.10313	0.2582:0.6168:0.0:0.125	.	18;18	Q8WWL7-2;Q8WWL7	.;CCNB3_HUMAN	E	18	ENSP00000365210:Q18E;ENSP00000365206:Q18E;ENSP00000338682:Q18E;ENSP00000276014:Q18E	.	Q	+	1	0	CCNB3	50044955	0.002000	0.14202	0.002000	0.10522	0.147000	0.21601	0.491000	0.22419	0.524000	0.28502	-0.273000	0.10243	CAG	CCNB3	-	NULL		0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	C			50028215	1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.001	G	G	50028215	C	G	50028215	3	3	58	1	0	0	0	0	1	0	0	0	2919	827	29	1	54	1	CCNB3	23	50028215	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1377845	50028215	105242345	1342	9092										
CCNB3	85417	genome.wustl.edu	37	chrX	50052681	50052681	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	caggggacaatgtcccacttGaagaaaccactaatattaca	7	10	0	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:50052681G>C	ENST00000376042.1	+	6	1810	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L504F			Q8WWL7	CCNB3_HUMAN	cyclin B3	504					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L504F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGTCCCACTTGAAGAAACCAC	0.413																																																	2	Substitution - Missense(2)	cervix(2)											44	42	43					X																	50052681		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1512G>C	X.37:g.50052681G>C	ENSP00000365210:p.Leu504Phe		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.L504F	ENST00000376042.1	37	c.1512	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	G	8.329	0.825990	0.16749	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.28069	1.63;1.63	3.38	2.48	0.30137	.	9.429270	0.00166	N	0.000000	T	0.48519	0.1504	M	0.66939	2.045	0.09310	N	1	D	0.62365	0.991	P	0.55667	0.781	T	0.09487	-1.0672	9	.	.	.	.	6.9929	0.24765	0.0:0.0:0.7288:0.2712	.	504	Q8WWL7	CCNB3_HUMAN	F	504	ENSP00000365210:L504F;ENSP00000276014:L504F	.	L	+	3	2	CCNB3	50069421	0.003000	0.15002	0.009000	0.14445	0.034000	0.12701	0.056000	0.14256	0.778000	0.33520	0.509000	0.49947	TTG	CCNB3	-	NULL		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	G			50052681	1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.009	C	C	50052681	G	C	50052681	3	2	58	1	0	0	0	0	1	0	0	0	2919	1281	45	1	1526	1	CCNB3	23	50052681	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	24466	50052681	105217879	1343	9093										
DGKK	139189	genome.wustl.edu	37	chrX	50213605	50213605	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cggccaaggcggcggaggctCtggagactcagcgggctgct	18	12	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:50213605C>G	ENST00000376025.2	-	0	132							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggcggaggcTCTGGAGACTCA	0.736																																																	0													6	8	8					X																	50213605		1789	3787	5576			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213605C>G			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.736	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50213605	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.986	G	G	50213605	C	G	50213605	1	3	58	0	1	0	0	0	0	0	0	0	4482	922	32	1		1	DGKK	23	50213605	RNA	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	160924	50213605	105056955	1344	9094										
SMC1A	8243	genome.wustl.edu	37	chrX	53407550	53407550	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gcccgccctacctcaggataGactccaatgaggctctcggc	10	16	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:53407550G>C	ENST00000322213.4	-	24	3736	c.3609C>G	c.(3607-3609)gtC>gtG	p.V1203V	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1203					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.V1203V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCTCAGGATAGACTCCAATGA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											65	56	59					X																	53407550		2203	4300	6503	SO:0001819	synonymous_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3609C>G	X.37:g.53407550G>C			O14995|Q16351|Q2M228	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.V1203	ENST00000322213.4	37	c.3609	CCDS14352.1	X																																																																																			SMC1A	-	pfam_RecF/RecN/SMC		0.567	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	G	NM_006306		53407550	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	silent	SNP	1.000	C	C	53407550	G	C	53407550	2	2	58	1	0	0	0	0	0	0	0	1	14811	929	33	1		1	SMC1A	23	53407550	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	3193945	53407550	101863010	1345	9095										
YIPF6	286451	genome.wustl.edu	37	chrX	67751726	67751726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tgtcttgttttgtttagcctCcacagctttccttgctgata	7	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:67751726C>T	ENST00000462683.1	+	7	1340	c.596C>T	c.(595-597)tCc>tTc	p.S199F	YIPF6_ENST00000374622.2_Missense_Mutation_p.S156F	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	199					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)		p.S199F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						tgtttAGCCTCCACAGCTTTC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											126	91	103					X																	67751726		2166	4245	6411	SO:0001583	missense	286451			BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.596C>T	X.37:g.67751726C>T	ENSP00000417573:p.Ser199Phe		B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	pfam_Yip1	p.S199F	ENST00000462683.1	37	c.596	CCDS14389.1	X	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231304	0.58777	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.42131	0.98;0.98;0.98	5.8	5.8	0.92144	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.91872	3.25	0.80722	D	1	D;D	0.71674	0.981;0.998	D;D	0.74674	0.915;0.984	T	0.78828	-0.2050	10	0.87932	D	0	-5.9625	16.2314	0.82344	0.0:1.0:0.0:0.0	.	156;199	G5E997;Q96EC8	.;YIPF6_HUMAN	F	199;156;156	ENSP00000417573:S199F;ENSP00000401799:S156F;ENSP00000363751:S156F	ENSP00000363751:S156F	S	+	2	0	YIPF6	67668451	1.000000	0.71417	0.364000	0.25888	0.203000	0.24098	7.454000	0.80714	2.436000	0.82500	0.600000	0.82982	TCC	YIPF6	-	pfam_Yip1		0.383	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF6	HGNC	protein_coding	OTTHUMT00000057016.1	C	NM_173834		67751726	1	no_errors	ENST00000462683	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67751726	C	T	67751726	3	4	58	1	0	0	0	0	1	0	0	0	17513	855	30	1	622	1	YIPF6	23	67751726	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	14344176	67751726	87518834	1346	9096										
P2RY4	5030	genome.wustl.edu	37	chrX	69479359	69479359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agacaactgcatagctcacaGgcagcaggatgaacttgaaa	10	9	1	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:69479359G>A	ENST00000374519.2	-	1	295	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	39					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.P39L(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						ATAGCTCACAGGCAGCAGGAT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											63	48	53					X																	69479359		2203	4300	6503	SO:0001583	missense	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.116C>T	X.37:g.69479359G>A	ENSP00000363643:p.Pro39Leu		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor	p.P39L	ENST00000374519.2	37	c.116	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585140	0.66105	.	.	ENSG00000186912	ENST00000374519	T	0.37058	1.22	3.97	3.97	0.46021	.	0.000000	0.85682	U	0.000000	T	0.39655	0.1086	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53279	-0.8461	10	0.87932	D	0	.	14.6501	0.68792	0.0:0.0:1.0:0.0	.	39	P51582	P2RY4_HUMAN	L	39	ENSP00000363643:P39L	ENSP00000363643:P39L	P	-	2	0	P2RY4	69396084	1.000000	0.71417	0.995000	0.50966	0.638000	0.38207	9.441000	0.97557	1.981000	0.57761	0.517000	0.50305	CCT	P2RY4	-	prints_GPCR_Rhodpsn		0.577	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	G	NM_002565		69479359	-1	no_errors	ENST00000374519	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69479359	G	A	69479359	3	1	58	1	0	0	0	0	1	0	0	0	11377	1000	35	4	985	4	P2RY4	23	69479359	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1727633	69479359	85791201	1347	9097										
GDPD2	54857	genome.wustl.edu	37	chrX	69652906	69652906	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttagaaacagcagtgctgctGacaaggatcaacaatttcat	8	8	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:69652906G>A	ENST00000374382.3	+	16	1841	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	GDPD2_ENST00000536730.1_Silent_p.L451L|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.L451L|GDPD2_ENST00000453994.2_Silent_p.L581L	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	530					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.L581L(1)|p.L530L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CAGTGCTGCTGACAAGGATCA	0.537											OREG0019852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	cervix(2)											79	59	66					X																	69652906		2203	4300	6503	SO:0001819	synonymous_variant	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1590G>A	X.37:g.69652906G>A		1116	B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L581	ENST00000374382.3	37	c.1743	CCDS14402.1	X																																																																																			GDPD2	-	NULL		0.537	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	G	NM_017711		69652906	1	no_errors	ENST00000453994	ensembl	human	known	70_37	silent	SNP	0.999	A	A	69652906	G	A	69652906	2	1	58	1	0	0	0	0	0	0	0	1	6343	1277	45	1		1	GDPD2	23	69652906	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	173547	69652906	85617654	1348	9098										
ERCC6L	54821	genome.wustl.edu	37	chrX	71426886	71426886	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcctataaaccacaacattCtctttttgtccaattcggta	4	11	1	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:71426886C>G	ENST00000334463.3	-	2	1866	c.1731G>C	c.(1729-1731)gaG>gaC	p.E577D	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.E454D	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	577	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E577D(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CCACAACATTCTCTTTTTGTC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											101	91	94					X																	71426886		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1731G>C	X.37:g.71426886C>G	ENSP00000334675:p.Glu577Asp		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E577D	ENST00000334463.3	37	c.1731	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077248	0.36662	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.42513	0.97;0.97	5.46	2.93	0.34026	Helicase, C-terminal (1);	.	.	.	.	T	0.36303	0.0962	N	0.10809	0.05	0.34862	D	0.742716	D	0.67145	0.996	P	0.60012	0.867	T	0.49351	-0.8949	9	0.87932	D	0	-13.458	6.4394	0.21841	0.0:0.3053:0.0:0.6947	.	577	Q2NKX8	ERC6L_HUMAN	D	454;577	ENSP00000362761:E454D;ENSP00000334675:E577D	ENSP00000334675:E577D	E	-	3	2	ERCC6L	71343611	0.998000	0.40836	1.000000	0.80357	0.801000	0.45260	0.414000	0.21164	0.232000	0.21100	-0.365000	0.07479	GAG	ERCC6L	-	pfscan_Helicase_C		0.398	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	C	NM_017669		71426886	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	0.998	G	G	71426886	C	G	71426886	3	3	58	1	0	0	0	0	1	0	0	0	5230	912	32	1	2025	1	ERCC6L	23	71426886	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1773980	71426886	83843674	1349	9099										
KIAA2022	340533	genome.wustl.edu	37	chrX	73959275	73959275	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaaaatgcgagtctcttcttCaaacacaggtaaaacccaaa	6	10	3	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:73959275C>G	ENST00000055682.6	-	4	5127	c.4516G>C	c.(4516-4518)Gaa>Caa	p.E1506Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1506					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E1506Q(1)|p.E1506K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTCTTCTTCAAACACAGGT	0.343																																																	2	Substitution - Missense(2)	cervix(1)|breast(1)											73	65	67					X																	73959275		2202	4300	6502	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4516G>C	X.37:g.73959275C>G	ENSP00000055682:p.Glu1506Gln		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.E1506Q	ENST00000055682.6	37	c.4516	CCDS35337.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.758875|2.758875	0.49468|0.49468	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.39787|.	1.06;1.06|.	5.28|5.28	4.4|4.4	0.53042|0.53042	.|.	0.319263|.	0.34411|.	N|.	0.003994|.	T|.	0.47021|.	0.1423|.	L|L	0.29908|0.29908	0.895|0.895	0.34770|0.34770	D|D	0.733596|0.733596	D|.	0.57257|.	0.979|.	P|.	0.56563|.	0.801|.	T|.	0.56366|.	-0.7991|.	10|.	0.72032|.	D|.	0.01|.	-17.3847|-17.3847	11.7535|11.7535	0.51862|0.51862	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	1506|.	Q5QGS0|.	K2022_HUMAN|.	Q|S	1506|107	ENSP00000362567:E1506Q;ENSP00000055682:E1506Q|.	ENSP00000055682:E1506Q|.	E|X	-|-	1|2	0|2	KIAA2022|KIAA2022	73876000|73876000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.416000|3.416000	0.52707|0.52707	2.178000|2.178000	0.69098|0.69098	0.600000|0.600000	0.82982|0.82982	GAA|TGA	KIAA2022	-	NULL		0.343	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73959275	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73959275	C	G	73959275	3	3	58	1	0	0	0	0	1	0	0	0	8289	835	29	1	38	1	KIAA2022	23	73959275	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2532389	73959275	81311285	1350	9100										
ZCCHC5	203430	genome.wustl.edu	37	chrX	77913090	77913090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aagcaattgccaacaaagctCaccagggctgcttcagtggg	11	11	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:77913090C>T	ENST00000321110.1	-	2	1123	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	276							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V276V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CAACAAAGCTCACCAGGGCTG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											36	34	35					X																	77913090		2203	4300	6503	SO:0001819	synonymous_variant	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.828G>A	X.37:g.77913090C>T			B2RMZ0|Q5JQE9	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V276	ENST00000321110.1	37	c.828	CCDS14440.1	X																																																																																			ZCCHC5	-	NULL		0.498	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	C	NM_152694		77913090	-1	no_errors	ENST00000321110	ensembl	human	known	70_37	silent	SNP	0.618	T	T	77913090	C	T	77913090	2	4	58	1	0	0	0	0	0	0	0	1	17621	813	29	1		1	ZCCHC5	23	77913090	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	3953815	77913090	77357470	1351	9101										
GPRASP1	9737	genome.wustl.edu	37	chrX	101909941	101909941	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agaaaatgctaataccttttCaaggcccatgatcaagaaag	7	8	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:101909941C>G	ENST00000361600.5	+	5	1901	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.S367*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.S367*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.S367*	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	367					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S367*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATACCTTTTCAAGGCCCATG	0.488																																																	1	Substitution - Nonsense(1)	cervix(1)											50	59	56					X																	101909941		2202	4299	6501	SO:0001587	stop_gained	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1100C>G	X.37:g.101909941C>G	ENSP00000355146:p.Ser367*		O43168|Q96LA1	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S367*	ENST00000361600.5	37	c.1100	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.843442	0.98974	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.32	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1279	8.4942	0.33119	0.0:0.2467:0.0:0.7533	.	.	.	.	X	367	.	ENSP00000355146:S367X	S	+	2	0	GPRASP1	101796597	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-1.108000	0.03313	-0.849000	0.04158	0.458000	0.33432	TCA	GPRASP1	-	NULL		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101909941	1	no_errors	ENST00000361600	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	101909941	C	G	101909941	4	3	58	1	0	0	0	0	0	1	0	0	6742	838	29	1	1102	1	GPRASP1	23	101909941	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	23996851	101909941	53360619	1352	9102										
TMEM164	84187	genome.wustl.edu	37	chrX	109247278	109247278	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcaaggagagcctgagcaaGaatctgctcttagtagccct	12	10	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:109247278G>C	ENST00000372073.1	+	2	612	c.276G>C	c.(274-276)aaG>aaC	p.K92N	TMEM164_ENST00000372072.3_Intron|TMEM164_ENST00000372068.2_Missense_Mutation_p.K92N|TMEM164_ENST00000288381.4_Missense_Mutation_p.K92N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	92						integral component of membrane (GO:0016021)		p.K92N(2)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCCTGAGCAAGAATCTGCTCT	0.607																																																	2	Substitution - Missense(2)	cervix(2)											79	58	65					X																	109247278		2203	4300	6503	SO:0001583	missense	84187			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.276G>C	X.37:g.109247278G>C	ENSP00000361143:p.Lys92Asn		B3KSQ8|F5H2P2	Missense_Mutation	SNP	NULL	p.K92N	ENST00000372073.1	37	c.276	CCDS14550.2	X	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443643	0.83993	.	.	ENSG00000157600	ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T	0.53206	0.63;0.63;0.63	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.975	T	0.71971	-0.4431	10	0.72032	D	0.01	-4.6729	17.2052	0.86916	0.0:0.0:1.0:0.0	.	92;92	Q9H617;Q5U3C3	.;TM164_HUMAN	N	92	ENSP00000361143:K92N;ENSP00000361138:K92N;ENSP00000288381:K92N	ENSP00000288381:K92N	K	+	3	2	TMEM164	109133934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.511000	0.81718	1.984000	0.57885	0.513000	0.50165	AAG	TMEM164	-	NULL		0.607	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM164	HGNC	protein_coding	OTTHUMT00000057898.1	G	NM_032227		109247278	1	no_errors	ENST00000372068	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109247278	G	C	109247278	3	2	58	1	0	0	0	0	1	0	0	0	16109	933	33	1	278	1	TMEM164	23	109247278	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	7337337	109247278	46023282	1353	9103										
RGAG1	57529	genome.wustl.edu	37	chrX	109695460	109695460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cctctggatcaatgtccatgCtgcaaatgagagcccctgtc	9	13	2	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:109695460C>G	ENST00000465301.2	+	3	1861	c.1615C>G	c.(1615-1617)Ctg>Gtg	p.L539V	RGAG1_ENST00000540313.1_Missense_Mutation_p.L539V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	539								p.L539V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGTCCATGCTGCAAATGAG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											173	157	163					X																	109695460		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1615C>G	X.37:g.109695460C>G	ENSP00000419786:p.Leu539Val		Q9P2M8	Missense_Mutation	SNP	NULL	p.L539V	ENST00000465301.2	37	c.1615	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	7.764	0.705913	0.15172	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.42131	0.98;0.98	4.43	3.56	0.40772	.	0.669572	0.11693	N	0.538716	T	0.36771	0.0979	L	0.54323	1.7	0.09310	N	1	P	0.45827	0.867	B	0.39027	0.288	T	0.15235	-1.0444	9	.	.	.	0.001	9.4	0.38426	0.0:0.8917:0.0:0.1083	.	539	Q8NET4	RGAG1_HUMAN	V	539	ENSP00000419786:L539V;ENSP00000441452:L539V	.	L	+	1	2	RGAG1	109582116	0.002000	0.14202	0.018000	0.16275	0.742000	0.42306	0.392000	0.20801	1.201000	0.43203	0.499000	0.49734	CTG	RGAG1	-	NULL		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109695460	1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.093	G	G	109695460	C	G	109695460	3	3	58	1	0	0	0	0	1	0	0	0	13304	796	28	4	1617	4	RGAG1	23	109695460	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	448182	109695460	45575100	1354	9104										
CAPN6	827	genome.wustl.edu	37	chrX	110497608	110497608	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttgctaatgttgcccacaatCagatgggggtcatcacagat	10	9	3	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:110497608C>T	ENST00000324068.1	-	3	356	c.189G>A	c.(187-189)ctG>ctA	p.L63L	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	63	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L63L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCCACAATCAGATGGGGGT	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											132	111	118					X																	110497608		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.189G>A	X.37:g.110497608C>T			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L63	ENST00000324068.1	37	c.189	CCDS14555.1	X																																																																																			CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.468	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	C			110497608	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	silent	SNP	1.000	T	T	110497608	C	T	110497608	2	4	58	1	0	0	0	0	0	0	0	1	2635	813	29	1		1	CAPN6	23	110497608	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	802148	110497608	44772952	1355	9105										
KLHL13	90293	genome.wustl.edu	37	chrX	117053561	117053561	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggcagcttccagcgtgtcttGaaggttgtccatattaagag	12	8	1	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:117053561G>C	ENST00000262820.3	-	4	1402	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E	KLHL13_ENST00000371882.1_Missense_Mutation_p.Q114E|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q123E|KLHL13_ENST00000539496.1_Missense_Mutation_p.Q168E|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q149E|KLHL13_ENST00000371876.1_Missense_Mutation_p.Q114E|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q149E|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q114E|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q114E	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	165					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.Q165E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCGTGTCTTGAAGGTTGTCC	0.363																																																	1	Substitution - Missense(1)	cervix(1)											73	78	76					X																	117053561		2203	4300	6503	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.493C>G	X.37:g.117053561G>C	ENSP00000262820:p.Gln165Glu		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q168E	ENST00000262820.3	37	c.502	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127828	0.20959	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.07	3.29	0.37713	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.115400	0.64402	D	0.000013	T	0.46756	0.1409	L	0.41236	1.265	0.49798	D	0.999827	B;B;B;B	0.32203	0.034;0.36;0.019;0.043	B;B;B;B	0.26416	0.028;0.069;0.028;0.048	T	0.26326	-1.0106	10	0.25751	T	0.34	.	9.1343	0.36863	0.0779:0.0:0.7755:0.1466	.	149;168;159;165	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	E	114;114;114;114;149;149;168;165;123;114	ENSP00000360949:Q114E;ENSP00000360943:Q114E;ENSP00000360945:Q114E;ENSP00000412640:Q114E;ENSP00000444450:Q149E;ENSP00000441029:Q149E;ENSP00000443191:Q168E;ENSP00000262820:Q165E;ENSP00000440707:Q123E;ENSP00000419803:Q114E	ENSP00000262820:Q165E	Q	-	1	0	KLHL13	116937589	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	9.657000	0.98554	0.527000	0.28560	-0.382000	0.06688	CAA	KLHL13	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.363	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		G	NM_033495		117053561	-1	no_errors	ENST00000539496	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117053561	G	C	117053561	3	2	58	1	0	0	0	0	1	0	0	0	8389	1299	45	1	1490	1	KLHL13	23	117053561	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	6555953	117053561	38216999	1356	9106										
LONRF3	79836	genome.wustl.edu	37	chrX	118143099	118143099	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ccccatgtagtgcttggcatCaagaaaatacagcaaaaatg	8	9	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:118143099C>G	ENST00000371628.3	+	7	1572	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	LONRF3_ENST00000304778.7_Nonsense_Mutation_p.S473*|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Nonsense_Mutation_p.S258*	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	514							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S473*(2)|p.S514*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCTTGGCATCAAGAAAATAC	0.383																																																	4	Substitution - Nonsense(4)	cervix(2)|lung(2)											94	85	88					X																	118143099		2203	4300	6503	SO:0001587	stop_gained	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1541C>G	X.37:g.118143099C>G	ENSP00000360690:p.Ser514*		Q5JPN6|Q8NB00|Q9H647	Nonsense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S514*	ENST00000371628.3	37	c.1541	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.336922|7.336922	0.98221|0.98221	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000439603|ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	.|.	.|.	.|.	6.08|6.08	4.09|4.09	0.47781|0.47781	.|.	.|0.476626	.|0.21720	.|N	.|0.070122	T|.	0.18759|.	0.0450|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21008|.	-1.0258|.	3|.	.|0.07644	.|T	.|0.81	-51.3869|-51.3869	4.29|4.29	0.10874|0.10874	0.0:0.5399:0.0:0.4601|0.0:0.5399:0.0:0.4601	.|.	.|.	.|.	.|.	M|X	279|473;473;514;258	.|.	.|ENSP00000307732:S473X	I|S	+|+	3|2	3|0	LONRF3|LONRF3	118027127|118027127	0.135000|0.135000	0.22499|0.22499	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.671000|0.671000	0.25172|0.25172	1.304000|1.304000	0.44892|0.44892	0.600000|0.600000	0.82982|0.82982	ATC|TCA	LONRF3	-	NULL		0.383	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	C	NM_024778		118143099	1	no_errors	ENST00000371628	ensembl	human	known	70_37	nonsense	SNP	0.932	G	G	118143099	C	G	118143099	4	3	58	1	0	0	0	0	0	1	0	0	8919	838	29	1	1567	1	LONRF3	23	118143099	Nonsense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1089538	118143099	37127461	1357	9107										
CXorf56	63932	genome.wustl.edu	37	chrX	118676555	118676555	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ttggtccgtttggtcatcatCacctggagtggcaggcaaga	13	9	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:118676555C>T	ENST00000371594.4	-	5	504	c.426G>A	c.(424-426)gtG>gtA	p.V142V	CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000320339.4_Silent_p.V93V|CXorf56_ENST00000536133.1_Silent_p.V128V	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	142								p.V142V(1)		cervix(1)|endometrium(2)|lung(7)	10						TGGTCATCATCACCTGGAGTG	0.527																																																	1	Substitution - coding silent(1)	cervix(1)											193	121	145					X																	118676555		2203	4300	6503	SO:0001819	synonymous_variant	63932			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.426G>A	X.37:g.118676555C>T			A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	NULL	p.V142	ENST00000371594.4	37	c.426	CCDS14579.1	X																																																																																			CXorf56	-	NULL		0.527	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		C	NM_022101		118676555	-1	no_errors	ENST00000371594	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118676555	C	T	118676555	2	4	58	1	0	0	0	0	0	0	0	1	4117	813	29	1		1	CXorf56	23	118676555	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	533456	118676555	36594005	1358	9108										
ODZ1	10178	genome.wustl.edu	37	chrX	123538975	123538975	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cattgtgctctccgggcaatGagatgttgcatttgcccagg	12	10	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:123538975G>A	ENST00000371130.3	-	26	5339	c.5276C>T	c.(5275-5277)tCa>tTa	p.S1759L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S1766L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1759					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1761L(1)									TCCGGGCAATGAGATGTTGCA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											144	118	127					X																	123538975		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5276C>T	X.37:g.123538975G>A	ENSP00000360171:p.Ser1759Leu		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S1766L	ENST00000371130.3	37	c.5297	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711231	0.68730	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.03	5.63	5.63	0.86233	.	0.243792	0.41938	D	0.000781	D	0.82291	0.5005	L	0.59436	1.845	0.58432	D	0.999998	P;B;B	0.36282	0.546;0.361;0.411	B;B;B	0.26770	0.073;0.036;0.05	D	0.83497	0.0073	10	0.59425	D	0.04	.	18.7039	0.91630	0.0:0.0:1.0:0.0	.	1765;1766;1759	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1759;1766	ENSP00000360171:S1759L;ENSP00000403954:S1766L	ENSP00000360171:S1759L	S	-	2	0	ODZ1	123366656	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	6.223000	0.72257	2.362000	0.80069	0.600000	0.82982	TCA	TENM1	-	NULL		0.562	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123538975	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123538975	G	A	123538975	3	1	58	1	0	0	0	0	1	0	0	0	10858	1294	45	1	2925	1	ODZ1	23	123538975	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	4862420	123538975	31731585	1359	9109										
MMGT1	93380	genome.wustl.edu	37	chrX	135047196	135047196	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	aaaaatcttaacgacgcagtGattcgagttttcgtaacttc	7	8	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:135047196G>C	ENST00000305963.2	-	4	770	c.383C>G	c.(382-384)tCa>tGa	p.S128*	MMGT1_ENST00000433339.2_Nonsense_Mutation_p.S193*	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	128					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)	p.S128*(1)		cervix(1)|endometrium(1)|kidney(1)	3						ACGACGCAGTGATTCGAGTTT	0.413																																																	1	Substitution - Nonsense(1)	cervix(1)											169	159	162					X																	135047196		2203	4300	6503	SO:0001587	stop_gained	93380			AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"ER membrane protein complex subunit 5"		"transmembrane protein 32"	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.383C>G	X.37:g.135047196G>C	ENSP00000306220:p.Ser128*		B2R625|B4DIY3|D3DWG7|Q5JPP7	Nonsense_Mutation	SNP	pfam_Magnesium_transport	p.S193*	ENST00000305963.2	37	c.578	CCDS14653.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517577	0.85495	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.53	5.53	0.82687	.	0.413669	0.26099	N	0.026351	.	.	.	.	.	.	0.31502	N	0.664637	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.6169	0.88070	0.0:0.0:1.0:0.0	.	.	.	.	X	128;193	.	ENSP00000306220:S128X	S	-	2	0	MMGT1	134874862	1.000000	0.71417	0.962000	0.40283	0.960000	0.62799	6.633000	0.74286	2.463000	0.83235	0.600000	0.82982	TCA	MMGT1	-	NULL		0.413	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMGT1	HGNC	protein_coding	OTTHUMT00000058453.3	G	NM_173470		135047196	-1	no_errors	ENST00000433339	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	135047196	G	C	135047196	4	2	58	1	0	0	0	0	0	1	0	0	9670	1294	45	1	16	1	MMGT1	23	135047196	Nonsense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	11508221	135047196	20223364	1360	9110										
FMR1NB	158521	genome.wustl.edu	37	chrX	147090178	147090178	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	atgtttgggcttggtgcgatCagccttatcctggtatgtct	12	8	2	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:147090178C>G	ENST00000370467.3	+	4	653	c.579C>G	c.(577-579)atC>atG	p.I193M	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	193						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.I193M(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGCGATCAGCCTTATCC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											239	176	197					X																	147090178		2203	4300	6503	SO:0001583	missense	158521				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.579C>G	X.37:g.147090178C>G	ENSP00000359498:p.Ile193Met		D3DWT3	Missense_Mutation	SNP	superfamily_P_trefoil	p.I193M	ENST00000370467.3	37	c.579	CCDS14683.1	X	.	.	.	.	.	.	.	.	.	.	C	4.963	0.178815	0.09443	.	.	ENSG00000176988	ENST00000370467	T	0.24350	1.86	5.64	1.59	0.23543	.	0.712928	0.12112	N	0.498408	T	0.12263	0.0298	N	0.14661	0.345	0.09310	N	1	P	0.37573	0.6	B	0.36808	0.233	T	0.15694	-1.0428	10	0.35671	T	0.21	-6.0528	2.7278	0.05219	0.3292:0.4212:0.1573:0.0922	.	193	Q8N0W7	FMR1N_HUMAN	M	193	ENSP00000359498:I193M	ENSP00000359498:I193M	I	+	3	3	FMR1NB	146897870	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.068000	0.14531	0.166000	0.19597	0.544000	0.68410	ATC	FMR1NB	-	NULL		0.398	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1NB	HGNC	protein_coding	OTTHUMT00000058667.1	C	NM_152578		147090178	1	no_errors	ENST00000370467	ensembl	human	known	70_37	missense	SNP	0.000	G	G	147090178	C	G	147090178	3	3	58	1	0	0	0	0	1	0	0	0	5979	816	29	1	593	1	FMR1NB	23	147090178	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	12042982	147090178	8180382	1361	9111										
MAGEA11	4110	genome.wustl.edu	37	chrX	148798206	148798206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gggagcacttcctctttgggGagcccaagaggctccttacc	12	13	1	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:148798206G>A	ENST00000355220.5	+	5	1162	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E325K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	354	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A77A(1)|p.E354K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCTTTGGGGAGCCCAAGAG	0.542																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)											140	143	142					X																	148798206		2203	4300	6503	SO:0001583	missense	4110				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1060G>A	X.37:g.148798206G>A	ENSP00000347358:p.Glu354Lys		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E354K	ENST00000355220.5	37	c.1060	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	12.96	2.093860	0.36952	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05139	3.49;3.49	0.909	0.909	0.19332	.	.	.	.	.	T	0.18045	0.0433	M	0.91972	3.26	0.09310	N	1	P;D	0.53885	0.952;0.963	P;P	0.51487	0.541;0.671	T	0.09100	-1.0690	8	.	.	.	.	4.8361	0.13466	0.0:0.0:1.0:0.0	.	325;354	G5E962;P43364	.;MAGAB_HUMAN	K	325;354	ENSP00000328177:E325K;ENSP00000347358:E354K	.	E	+	1	0	MAGEA11	148576199	0.058000	0.20735	0.014000	0.15608	0.031000	0.12232	0.274000	0.18680	0.721000	0.32231	0.377000	0.23210	GAG	MAGEA11	-	pfam_MAGE,pfscan_MAGE		0.542	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	HGNC	protein_coding	OTTHUMT00000058725.4	G	NM_005366		148798206	1	no_errors	ENST00000355220	ensembl	human	known	70_37	missense	SNP	0.013	A	A	148798206	G	A	148798206	3	1	58	1	0	0	0	0	1	0	0	0	9188	1175	41	1	1087	1	MAGEA11	23	148798206	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	1708028	148798206	6472354	1362	9112										
PRRG3	79057	genome.wustl.edu	37	chrX	150869355	150869355	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	tacctccctgagctctctctCtccagactgtccagcaccac	5	19	2	2			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:150869355C>G	ENST00000370353.3	+	4	936	c.546C>G	c.(544-546)ctC>ctG	p.L182L	PRRG3_ENST00000538575.1_Silent_p.L182L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	182						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L182L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCTCTCTCTCCAGACTGT	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											53	41	45					X																	150869355		2203	4300	6503	SO:0001819	synonymous_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.546C>G	X.37:g.150869355C>G			A1A523|A1A575|Q8N2N6	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.L182	ENST00000370353.3	37	c.546	CCDS14699.1	X																																																																																			PRRG3	-	NULL		0.662	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	C	NM_024082		150869355	1	no_errors	ENST00000370353	ensembl	human	known	70_37	silent	SNP	0.705	G	G	150869355	C	G	150869355	2	3	58	1	0	0	0	0	0	0	0	1	12634	900	32	1		1	PRRG3	23	150869355	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	2071149	150869355	4401205	1363	9113										
NSDHL	50814	genome.wustl.edu	37	chrX	152031145	152031145	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	accttcctctgtcagaaactCattttaaccagcagtgccag	6	13	3	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:152031145C>G	ENST00000370274.3	+	5	614	c.420C>G	c.(418-420)ctC>ctG	p.L140L	NSDHL_ENST00000440023.1_Silent_p.L140L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	140					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.L140L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAGAAACTCATTTTAACCA	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											126	110	115					X																	152031145		2203	4300	6503	SO:0001819	synonymous_variant	50814			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.420C>G	X.37:g.152031145C>G			D3DWT6|O00344	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.L140	ENST00000370274.3	37	c.420	CCDS14717.1	X																																																																																			NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA		0.413	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	C	NM_015922		152031145	1	no_errors	ENST00000370274	ensembl	human	known	70_37	silent	SNP	1.000	G	G	152031145	C	G	152031145	2	3	58	1	0	0	0	0	0	0	0	1	10694	813	29	1		1	NSDHL	23	152031145	Silent	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1161790	152031145	3239415	1364	9114										
PDZD4	57595	genome.wustl.edu	37	chrX	153072748	153072748	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gctcacctcatactccagctCatccaagcggtctgcctcct	6	18	4	0			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153072748C>T	ENST00000164640.4	-	3	564	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Missense_Mutation_p.E50K|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	125						cytoplasm (GO:0005737)		p.E125K(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTCCAGCTCATCCAAGCGG	0.687																																																	1	Substitution - Missense(1)	cervix(1)											23	21	22					X																	153072748		2199	4295	6494	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.373G>A	X.37:g.153072748C>T	ENSP00000164640:p.Glu125Lys		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E125K	ENST00000164640.4	37	c.373	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.219064	0.95104	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.118977	0.56097	D	0.000025	T	0.60170	0.2248	M	0.61703	1.905	0.58432	D	0.999999	D;D;D;D	0.69078	0.993;0.996;0.997;0.986	P;P;P;P	0.62382	0.901;0.837;0.877;0.901	T	0.59386	-0.7464	10	0.45353	T	0.12	-33.5773	17.3686	0.87370	0.0:1.0:0.0:0.0	.	131;125;50;29	Q17RL8;Q76G19;D3DWW0;B3KVR9	.;PDZD4_HUMAN;.;.	K	125;50;29	ENSP00000164640:E125K;ENSP00000377355:E50K	ENSP00000164640:E125K	E	-	1	0	PDZD4	152725942	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.291000	0.65667	2.369000	0.80426	0.600000	0.82982	GAG	PDZD4	-	superfamily_PDZ		0.687	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	C	NM_032512		153072748	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153072748	C	T	153072748	3	4	58	1	0	0	0	0	1	0	0	0	11727	835	29	1	1960	1	PDZD4	23	153072748	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	1041603	153072748	2197812	1365	9115										
MECP2	4204	genome.wustl.edu	37	chrX	153296200	153296200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	ggtgctccttcttggggggtGaggaggcgctgctgctgcgc	19	10	1	1	rs61752372|rs267608562		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153296200G>A	ENST00000303391.6	-	4	1328	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	MECP2_ENST00000453960.2_Missense_Mutation_p.S372L|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	360					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.S360L(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGGGGGTGAGGAGGCGCT	0.657																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM003458	MECP2	M	rs61752372						25	28	27					X																	153296200		2197	4291	6488	SO:0001583	missense	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1079C>T	X.37:g.153296200G>A	ENSP00000301948:p.Ser360Leu		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.S360L	ENST00000303391.6	37	c.1079	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693351	0.48202	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.90133	-2.62;-2.61	5.11	5.11	0.69529	.	0.710569	0.14091	N	0.342000	D	0.86682	0.5991	N	0.08118	0	0.80722	D	1	P;P	0.50528	0.936;0.743	P;B	0.50049	0.629;0.425	D	0.88655	0.3185	10	0.72032	D	0.01	-6.0317	16.3245	0.82970	0.0:0.0:1.0:0.0	.	372;360	P51608-2;P51608	.;MECP2_HUMAN	L	360;360;372	ENSP00000301948:S360L;ENSP00000395535:S372L	ENSP00000301948:S360L	S	-	2	0	MECP2	152949394	0.997000	0.39634	0.937000	0.37676	0.930000	0.56654	3.404000	0.52623	2.374000	0.81015	0.529000	0.55759	TCA	MECP2	-	pirsf_Me_CpG-bd_MeCP2		0.657	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	G	NM_004992		153296200	-1	no_errors	ENST00000303391	ensembl	human	known	70_37	missense	SNP	0.993	A	A	153296200	G	A	153296200	3	1	58	1	0	0	0	0	1	0	0	0	9446	1294	45	1	385	1	MECP2	23	153296200	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	223452	153296200	1974360	1366	9116										
MECP2	4204	genome.wustl.edu	37	chrX	153296613	153296613	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	gaagtttgaaaaggcatcttGacaaggagcttcccaggact	11	8	1	2	rs61749735		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153296613G>A	ENST00000303391.6	-	4	915	c.666C>T	c.(664-666)gtC>gtT	p.V222V	MECP2_ENST00000453960.2_Silent_p.V234V|MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	222					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.V222V(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGCATCTTGACAAGGAGCT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											129	131	130					X																	153296613		2203	4300	6503	SO:0001819	synonymous_variant	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.666C>T	X.37:g.153296613G>A			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.V222	ENST00000303391.6	37	c.666	CCDS14741.1	X																																																																																			MECP2	-	superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2		0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	G	NM_004992		153296613	-1	no_errors	ENST00000303391	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153296613	G	A	153296613	2	1	58	1	0	0	0	0	0	0	0	1	9446	1277	45	1		1	MECP2	23	153296613	Silent	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	413	153296613	1973947	1367	9117										
OPN1MW	2652	genome.wustl.edu	37	chrX	153461460	153461460	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	agcttttcgggaagaaggttGacgatggctctgaactctcc	12	9	2	3			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153461460G>A	ENST00000369935.5	+	6	1084	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	342					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGAAGGTTGACGATGGCTC	0.552																																																	0													1	1	1					X																	153461460		153	369	522	SO:0001583	missense	2652			K03494	CCDS14743.1	Xq28	2013-01-08	2008-04-16		ENSG00000147380	ENSG00000268221		"GPCR / Class A : Opsin receptors"	4206	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300821	"color blindness, deutan", "green cone photoreceptor pigment"	GCP, CBBM, CBD			Standard	NM_000513		Approved	OPN1MW1, COD5	uc004fkb.3	P04001	OTTHUMG00000022652	ENST00000369935.5:c.1024G>A	X.37:g.153461460G>A	ENSP00000358951:p.Asp342Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.D342N	ENST00000369935.5	37	c.1024	CCDS14743.1	X	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292348	0.80914	.	.	ENSG00000147380	ENST00000369935	T	0.36340	1.26	2.71	2.71	0.32032	.	0.116215	0.56097	D	0.000031	T	0.50034	0.1592	M	0.79123	2.44	0.53005	D	0.999964	D	0.55172	0.97	P	0.53809	0.735	T	0.56649	-0.7944	10	0.48119	T	0.1	.	12.4162	0.55494	0.0:0.0:1.0:0.0	.	342	P04001	OPSG_HUMAN	N	342	ENSP00000358951:D342N	ENSP00000358951:D342N	D	+	1	0	OPN1MW	153114654	1.000000	0.71417	0.779000	0.31741	0.891000	0.51852	4.512000	0.60469	1.301000	0.44836	0.358000	0.22013	GAC	OPN1MW	-	prints_Opsin_red/grn		0.552	OPN1MW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW	HGNC	protein_coding	OTTHUMT00000058771.3	G	NM_000513		153461460	1	no_errors	ENST00000369935	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153461460	G	A	153461460	3	1	58	1	0	0	0	0	1	0	0	0	10902	1290	45	1	1046	1	OPN1MW	23	153461460	Missense_Mutation	SNP	G	TCGA-DR-A0ZM-01A-12D-A10S-08	164847	153461460	1809100	1368	9118										
BRCC3	79184	genome.wustl.edu	37	chrX	154305476	154305476	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.656639765223771	895	0	4.41220555206622	4.87103267372163	3.98396690518784	0.00683767640691653	0.0315835529271859	692	cagaattgttcacattcattCtgtcatcatcttacgacgtt	5	10	6	1			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:154305476C>T	ENST00000369462.1	+	4	252	c.227C>T	c.(226-228)tCt>tTt	p.S76F	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.S76F|BRCC3_ENST00000369459.2_Missense_Mutation_p.S76F|BRCC3_ENST00000399042.1_Missense_Mutation_p.S76F|BRCC3_ENST00000340647.4_Missense_Mutation_p.S77F	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	76	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S76F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACATTCATTCTGTCATCATC	0.428																																																	1	Substitution - Missense(1)	cervix(1)											115	97	103					X																	154305476		1888	4102	5990	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.227C>T	X.37:g.154305476C>T	ENSP00000358474:p.Ser76Phe		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.S76F	ENST00000369462.1	37	c.227	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200384	0.79015	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.988;0.974;0.999	T	0.73675	-0.3908	10	0.72032	D	0.01	-9.5171	11.2063	0.48771	0.0:0.9073:0.0:0.0927	.	77;76;76	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	F	77;76;76;76;52;76;76;18	ENSP00000344103:S77F;ENSP00000328641:S76F;ENSP00000358471:S76F;ENSP00000358474:S76F;ENSP00000413170:S52F;ENSP00000381998:S76F;ENSP00000381988:S18F	ENSP00000328641:S76F	S	+	2	0	BRCC3	153958670	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.125000	0.77193	1.124000	0.41980	0.594000	0.82650	TCT	BRCC3	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.428	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	C	NM_024332		154305476	1	no_errors	ENST00000399042	ensembl	human	known	70_37	missense	SNP	0.999	T	T	154305476	C	T	154305476	3	4	58	1	0	0	0	0	1	0	0	0	1503	913	32	1	241	1	BRCC3	23	154305476	Missense_Mutation	SNP	C	TCGA-DR-A0ZM-01A-12D-A10S-08	844016	154305476	965084	1369	9119										
MAP7D1	55700	genome.wustl.edu	37	chr1	36643631	36643631	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggcgggttcggaggaaggagGaggcaaaggagagccccagc	20	8	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:36643631G>T	ENST00000373151.2	+	9	1753	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*	MAP7D1_ENST00000373148.4_Nonsense_Mutation_p.E59*|MAP7D1_ENST00000316156.4_Nonsense_Mutation_p.E476*|MAP7D1_ENST00000373150.4_Nonsense_Mutation_p.E481*	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	513	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.E513*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GAGGAAGGAGGAGGCAAAGGA	0.701																																																	1	Substitution - Nonsense(1)	cervix(1)											40	41	40					1																	36643631		2203	4300	6503	SO:0001587	stop_gained	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1537G>T	1.37:g.36643631G>T	ENSP00000362244:p.Glu513*		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Nonsense_Mutation	SNP	pfam_E-MAP-115	p.E513*	ENST00000373151.2	37	c.1537	CCDS30673.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.896439|3.896439	0.72639|0.72639	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148|ENST00000530975	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.42420|.	D|.	0.000708|.	.|T	.|0.63803	.|0.2542	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69091	.|-0.5237	.|3	0.39692|.	T|.	0.17|.	-23.5343|-23.5343	13.7522|13.7522	0.62915|0.62915	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	476;481;513;59|95	.|.	ENSP00000320228:E476X|.	E|G	+|+	1|2	0|0	MAP7D1|MAP7D1	36416218|36416218	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.304000|0.304000	0.27724|0.27724	5.140000|5.140000	0.64807|0.64807	2.623000|2.623000	0.88846|0.88846	0.655000|0.655000	0.94253|0.94253	GAG|GGA	MAP7D1	-	NULL		0.701	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	G	NM_018067		36643631	1	no_errors	ENST00000373151	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	36643631	G	T	36643631	4	4	59	1	0	0	0	0	0	1	0	0	9290	1175	41	3	1571	3	MAP7D1	1	36643631	Nonsense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08		36643631	212606990	1	9120										
GJA9	81025	genome.wustl.edu	37	chr1	39341324	39341324	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gtgcaaagcaaggttcctctGagtggagctttatttagttt	11	6	1	1	rs375468847		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:39341324G>A	ENST00000360786.3	-	1	699	c.447C>T	c.(445-447)ctC>ctT	p.L149L	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Silent_p.L149L|GJA9_ENST00000357771.3_Silent_p.L149L|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	149					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.L149L(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGTTCCTCTGAGTGGAGCTT	0.423																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	164	153	157		447	1.9	0.4	1		157	0,8600		0,0,4300	no	coding-synonymous	GJA9	NM_030772.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		149/516	39341324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.447C>T	1.37:g.39341324G>A			B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L149	ENST00000360786.3	37	c.447	CCDS432.1	1																																																																																			GJA9	-	NULL		0.423	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39341324	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	silent	SNP	0.986	A	A	39341324	G	A	39341324	2	1	59	1	0	0	0	0	0	0	0	1	6425	1277	45	1		1	GJA9	1	39341324	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	2697693	39341324	209909297	2	9121										
KIAA1324	57535	genome.wustl.edu	37	chr1	109714534	109714534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	acatcgcctccaacacggacGaatgcacagccacactgatg	8	15	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:109714534G>A	ENST00000369939.3	+	4	697	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E172K	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	172					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.E172K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAACACGGACGAATGCACAGC	0.532																																																	1	Substitution - Missense(1)	cervix(1)											122	97	106					1																	109714534		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.514G>A	1.37:g.109714534G>A	ENSP00000358955:p.Glu172Lys		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E172K	ENST00000369939.3	37	c.514	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.135353	0.94517	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.99	5.99	0.97316	.	0.048155	0.85682	D	0.000000	T	0.47040	0.1424	M	0.61703	1.905	0.44181	D	0.996999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.999	T	0.07271	-1.0781	10	0.30078	T	0.28	-13.8172	20.0857	0.97800	0.0:0.0:1.0:0.0	.	172;172;172;172	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	K	172	ENSP00000431349:E172K;ENSP00000358955:E172K;ENSP00000393964:E172K;ENSP00000434595:E172K	ENSP00000358955:E172K	E	+	1	0	KIAA1324	109516057	1.000000	0.71417	0.984000	0.44739	0.892000	0.51952	9.791000	0.99081	2.844000	0.97970	0.650000	0.86243	GAA	KIAA1324	-	superfamily_Growth_fac_rcpt		0.532	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	G	NM_020775		109714534	1	no_errors	ENST00000369939	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109714534	G	A	109714534	3	1	59	1	0	0	0	0	1	0	0	0	8243	1059	37	1	528	1	KIAA1324	1	109714534	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	70373210	109714534	139536087	3	9122										
FLG	2312	genome.wustl.edu	37	chr1	152281070	152281070	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	atgggtggactcagactgttCatgagtgctcacctggtaga	13	8	3	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:152281070C>T	ENST00000368799.1	-	3	6327	c.6292G>A	c.(6292-6294)Gaa>Aaa	p.E2098K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2098	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E2098K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.572									Ichthyosis																																								1	Substitution - Missense(1)	cervix(1)											305	232	257					1																	152281070		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6292G>A	1.37:g.152281070C>T	ENSP00000357789:p.Glu2098Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E2098K	ENST00000368799.1	37	c.6292	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	8.233	0.805119	0.16467	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.65	-2.2	0.06994	.	.	.	.	.	T	0.00580	0.0019	M	0.79805	2.47	0.09310	N	1	P	0.47409	0.895	B	0.38056	0.264	T	0.46048	-0.9219	9	0.07644	T	0.81	.	1.9969	0.03459	0.1886:0.3147:0.371:0.1256	.	2098	P20930	FILA_HUMAN	K	2098	ENSP00000357789:E2098K	ENSP00000357789:E2098K	E	-	1	0	FLG	150547694	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-7.020000	0.00046	-0.461000	0.06993	0.485000	0.47835	GAA	FLG	-	NULL		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152281070	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152281070	C	T	152281070	3	4	59	1	0	0	0	0	1	0	0	0	5940	835	29	1	5897	1	FLG	1	152281070	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	42566536	152281070	96969551	4	9123										
FLG	2312	genome.wustl.edu	37	chr1	152281894	152281894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	catagtgggatccctgccttCctcctctgcttgaccctggg	10	15	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:152281894C>A	ENST00000368799.1	-	3	5503	c.5468G>T	c.(5467-5469)gGa>gTa	p.G1823V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1823	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1823V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGCCTTCCTCCTCTGCT	0.582									Ichthyosis																																								1	Substitution - Missense(1)	cervix(1)											370	367	368					1																	152281894		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5468G>T	1.37:g.152281894C>A	ENSP00000357789:p.Gly1823Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G1823V	ENST00000368799.1	37	c.5468	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283450	0.23392	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01665	4.7	4.16	1.04	0.20106	.	.	.	.	.	T	0.03434	0.0099	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.31724	-0.9933	9	0.59425	D	0.04	-0.7845	6.3309	0.21269	0.0:0.6527:0.0:0.3473	.	1823	P20930	FILA_HUMAN	V	1823;58	ENSP00000357789:G1823V	ENSP00000271820:G58V	G	-	2	0	FLG	150548518	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.411000	0.02478	0.115000	0.18071	0.573000	0.79308	GGA	FLG	-	NULL		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152281894	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152281894	C	A	152281894	3	1	59	1	0	0	0	0	1	0	0	0	5940	855	30	3	6721	3	FLG	1	152281894	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	824	152281894	96968727	5	9124										
DENND4B	9909	genome.wustl.edu	37	chr1	153902843	153902843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gagtgggcatctgcgcccgcCggtgcctcagctcctccttg	13	16	2	0	rs573948345		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:153902843C>T	ENST00000361217.4	-	28	4839	c.4421G>A	c.(4420-4422)cGg>cAg	p.R1474Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1474					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1362Q(1)|p.R1474Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCGCCCGCCGGTGCCTCAG	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		20165	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	cervix(2)											53	57	56					1																	153902843		2047	4185	6232	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4421G>A	1.37:g.153902843C>T	ENSP00000354597:p.Arg1474Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R1474Q	ENST00000361217.4	37	c.4421	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838258	0.51057	.	.	ENSG00000198837	ENST00000361217	T	0.06687	3.27	5.14	4.23	0.50019	.	0.118823	0.56097	D	0.000040	T	0.02929	0.0087	L	0.43152	1.355	0.37471	D	0.915595	P	0.38800	0.648	B	0.25614	0.062	T	0.39603	-0.9606	10	0.59425	D	0.04	-20.2648	12.712	0.57094	0.0:0.9196:0.0:0.0804	.	1474	O75064	DEN4B_HUMAN	Q	1474	ENSP00000354597:R1474Q	ENSP00000354597:R1474Q	R	-	2	0	DENND4B	152169467	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.899000	0.48679	1.397000	0.46682	-0.258000	0.10820	CGG	DENND4B	-	NULL		0.552	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153902843	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153902843	C	T	153902843	3	4	59	1	0	0	0	0	1	0	0	0	4444	652	23	2	73	2	DENND4B	1	153902843	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	1620949	153902843	95347778	6	9125										
RGL1	23179	genome.wustl.edu	37	chr1	183874076	183874076	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aagttcatccagtggttccaGaggcagcagctcctgacaga	11	11	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:183874076G>A	ENST00000360851.3	+	13	1621	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	RGL1_ENST00000304685.4_Silent_p.Q516Q|RGL1_ENST00000536277.1_Silent_p.Q479Q|RGL1_ENST00000539189.1_Silent_p.Q452Q			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	481	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.Q516Q(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGTGGTTCCAGAGGCAGCAGC	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											109	106	107					1																	183874076		2203	4300	6503	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1443G>A	1.37:g.183874076G>A			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q516	ENST00000360851.3	37	c.1548		1																																																																																			RGL1	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.483	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	G	NM_015149		183874076	1	no_errors	ENST00000304685	ensembl	human	known	70_37	silent	SNP	1.000	A	A	183874076	G	A	183874076	2	1	59	1	0	0	0	0	0	0	0	1	13306	933	33	1		1	RGL1	1	183874076	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	29971233	183874076	65376545	7	9126										
TPR	7175	genome.wustl.edu	37	chr1	186292910	186292910	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tctcggtgactgaggtgctcGaggggcctgtctttcagatg	15	9	3	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:186292910G>A	ENST00000367478.4	-	43	6501	c.6205C>T	c.(6205-6207)Cga>Tga	p.R2069*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2069					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R2056*(1)|p.R2069*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGGTGCTCGAGGGGCCTGT	0.512			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Nonsense(2)	cervix(2)											134	143	140					1																	186292910		1952	4165	6117	SO:0001587	stop_gained	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6205C>T	1.37:g.186292910G>A	ENSP00000356448:p.Arg2069*		Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R2069*	ENST00000367478.4	37	c.6205	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	48	14.631327	0.99803	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.36	3.45	0.39498	.	0.065801	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4444	0.44486	0.0696:0.0:0.7961:0.1343	.	.	.	.	X	2069	.	ENSP00000356448:R2069X	R	-	1	2	TPR	184559533	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.689000	0.54706	0.721000	0.32231	0.650000	0.86243	CGA	TPR	-	NULL		0.512	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186292910	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	nonsense	SNP	0.989	A	A	186292910	G	A	186292910	4	1	59	1	0	0	0	0	0	1	0	0	16447	1066	37	1	922	1	TPR	1	186292910	Nonsense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	2418834	186292910	62957711	8	9127										
TNNT2	7139	genome.wustl.edu	37	chr1	201333443	201333443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cacagccaggcggttctgccGctccttctcccgctcattcc	8	19	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:201333443G>A	ENST00000509001.1	-	10	728	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	TNNT2_ENST00000367320.2_Missense_Mutation_p.R118W|TNNT2_ENST00000367322.1_Missense_Mutation_p.R148W|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.R160W|TNNT2_ENST00000360372.4_Missense_Mutation_p.R143W|TNNT2_ENST00000367315.2_Missense_Mutation_p.R148W|TNNT2_ENST00000367317.4_Missense_Mutation_p.R148W|TNNT2_ENST00000236918.7_Missense_Mutation_p.R153W|TNNT2_ENST00000367318.5_Missense_Mutation_p.R148W|TNNT2_ENST00000421663.2_Missense_Mutation_p.R150W	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	158					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.R148W(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CGGTTCTGCCGCTCCTTCTCC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											47	41	43					1																	201333443		2203	4300	6503	SO:0001583	missense	7139			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.442C>T	1.37:g.201333443G>A	ENSP00000422031:p.Arg148Trp		A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	pfam_Troponin	p.R160W	ENST00000509001.1	37	c.478	CCDS30969.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983298	0.74474	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	4.28	3.32	0.38043	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.999;0.999	D	0.96990	0.9721	10	0.87932	D	0	-14.9903	10.0374	0.42137	0.0:0.0:0.6204:0.3796	.	143;160;157;158;148;158	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	W	148;148;160;150;153;148;148;143;144;89;118;148;143;158	ENSP00000356291:R148W;ENSP00000356287:R148W;ENSP00000387874:R160W;ENSP00000404134:R150W;ENSP00000236918:R153W;ENSP00000356286:R148W;ENSP00000356284:R148W;ENSP00000353535:R143W;ENSP00000356289:R118W;ENSP00000422031:R148W;ENSP00000414036:R143W;ENSP00000402238:R158W	ENSP00000236918:R153W	R	-	1	2	TNNT2	199600066	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.380000	0.59581	0.719000	0.32188	0.491000	0.48974	CGG	TNNT2	-	pfam_Troponin		0.662	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	G	NM_000364		201333443	-1	no_errors	ENST00000458432	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201333443	G	A	201333443	3	1	59	1	0	0	0	0	1	0	0	0	16361	1086	38	2	455	2	TNNT2	1	201333443	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	15040533	201333443	47917178	9	9128										
MYT1L	23040	genome.wustl.edu	37	chr2	1926313	1926313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gttcacagaggtggtatcgtCgtcccgctcatgacacccat	10	13	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:1926313C>T	ENST00000399161.2	-	10	1975	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D410N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	410					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D410N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGGTATCGTCGTCCCGCTCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)											76	76	76					2																	1926313		2145	4240	6385	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1228G>A	2.37:g.1926313C>T	ENSP00000382114:p.Asp410Asn		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D410N	ENST00000399161.2	37	c.1228		2	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299875	0.40694	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49432	0.78;0.78	5.97	5.97	0.96955	.	0.228619	0.51477	D	0.000090	T	0.32734	0.0839	N	0.24115	0.695	0.80722	D	1	P;P	0.51791	0.913;0.948	B;B	0.34138	0.085;0.176	T	0.10497	-1.0627	10	0.23891	T	0.37	-46.0885	20.4388	0.99107	0.0:1.0:0.0:0.0	.	410;410	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	410;358;410	ENSP00000382114:D410N;ENSP00000396103:D410N	ENSP00000295067:D358N	D	-	1	0	MYT1L	1905320	1.000000	0.71417	0.385000	0.26158	0.289000	0.27227	7.751000	0.85126	2.836000	0.97738	0.655000	0.94253	GAC	MYT1L	-	NULL		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1926313	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	0.997	T	T	1926313	C	T	1926313	3	4	59	1	0	0	0	0	1	0	0	0	10130	884	31	1	2390	1	MYT1L	2	1926313	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		1926313	241273060	10	9129										
RRM2	6241	genome.wustl.edu	37	chr2	10263000	10263000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctctcgccgctgaaggggctCagcttggtcgacaaggagaa	14	11	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:10263000C>T	ENST00000304567.5	+	1	144	c.75C>T	c.(73-75)ctC>ctT	p.L25L	RP11-254F7.4_ENST00000607140.1_lincRNA|RRM2_ENST00000360566.2_Silent_p.L85L	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	25					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.L85L(1)|p.L25L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TGAAGGGGCTCAGCTTGGTCG	0.692																																																	2	Substitution - coding silent(2)	cervix(2)											11	11	11					2																	10263000		2174	4250	6424	SO:0001819	synonymous_variant	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.75C>T	2.37:g.10263000C>T			B2R9B5|J3KP43|Q5WRU7	Silent	SNP	pfam_RNR_small,superfamily_Ferritin/RNR-like	p.L85	ENST00000304567.5	37	c.255	CCDS1669.1	2																																																																																			RRM2	-	NULL		0.692	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2	HGNC	protein_coding	OTTHUMT00000364902.2	C			10263000	1	no_errors	ENST00000360566	ensembl	human	known	70_37	silent	SNP	0.004	T	T	10263000	C	T	10263000	2	4	59	1	0	0	0	0	0	0	0	1	13712	813	29	1		1	RRM2	2	10263000	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	8336687	10263000	232936373	11	9130										
HEATR5B	54497	genome.wustl.edu	37	chr2	37295890	37295890	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agctgcaatctgggctttttCacctagcaaactgcccacag	8	13	2	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:37295890C>T	ENST00000233099.5	-	8	1206	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E371K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	371						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E371K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGGGCTTTTTCACCTAGCAAA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											73	71	72					2																	37295890		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1111G>A	2.37:g.37295890C>T	ENSP00000233099:p.Glu371Lys		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E371K	ENST00000233099.5	37	c.1111	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.752181	0.96890	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08370	3.1;3.1	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.22068	-1.0227	10	0.62326	D	0.03	-22.6729	19.7635	0.96333	0.0:1.0:0.0:0.0	.	371	Q9P2D3	HTR5B_HUMAN	K	371	ENSP00000233099:E371K;ENSP00000346531:E371K	ENSP00000233099:E371K	E	-	1	0	HEATR5B	37149394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.669000	0.90835	0.655000	0.94253	GAA	HEATR5B	-	superfamily_ARM-type_fold		0.448	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37295890	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37295890	C	T	37295890	3	4	59	1	0	0	0	0	1	0	0	0	7052	835	29	1	5220	1	HEATR5B	2	37295890	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	27032890	37295890	205903483	12	9131										
QPCT	25797	genome.wustl.edu	37	chr2	37596909	37596909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	caaactcagccaggtggttcGaaagacttcaagcaattggt	10	9	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:37596909G>A	ENST00000338415.3	+	5	963	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	QPCT_ENST00000537448.1_Missense_Mutation_p.E220K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	269					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.E269K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGGTGGTTCGAAAGACTTCA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											92	92	92					2																	37596909		2203	4300	6503	SO:0001583	missense	25797			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.805G>A	2.37:g.37596909G>A	ENSP00000344829:p.Glu269Lys		Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	pfam_Peptidase_M28	p.E269K	ENST00000338415.3	37	c.805	CCDS1790.1	2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.860598	0.00552	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.24	-9.57	0.00562	Peptidase M28 (1);	2.352020	0.01276	N	0.009583	T	0.08537	0.0212	N	0.05280	-0.08	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.20538	-1.0272	10	0.06099	T	0.92	-10.7417	5.7327	0.18049	0.5622:0.1606:0.2017:0.0756	.	220;269	Q16769-2;Q16769	.;QPCT_HUMAN	K	269;220;220;34	ENSP00000344829:E269K;ENSP00000385391:E220K;ENSP00000441606:E220K;ENSP00000389227:E34K	ENSP00000344829:E269K	E	+	1	0	QPCT	37450413	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.967000	0.03821	-2.527000	0.00494	-1.083000	0.02208	GAA	QPCT	-	pfam_Peptidase_M28		0.333	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCT	HGNC	protein_coding	OTTHUMT00000218572.2	G			37596909	1	no_errors	ENST00000338415	ensembl	human	known	70_37	missense	SNP	0.000	A	A	37596909	G	A	37596909	3	1	59	1	0	0	0	0	1	0	0	0	12904	1059	37	1	823	1	QPCT	2	37596909	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	301019	37596909	205602464	13	9132										
NRXN1	9378	genome.wustl.edu	37	chr2	51255079	51255079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cgcacgctgtgccaggcgccGtcgttaaccggcgtgtcggc	15	15	0	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:51255079G>A	ENST00000406316.2	-	2	1809	c.333C>T	c.(331-333)gaC>gaT	p.D111D	NRXN1_ENST00000401669.2_Silent_p.D111D|NRXN1_ENST00000405581.1_Silent_p.D111D|NRXN1_ENST00000402717.3_Silent_p.D111D|NRXN1_ENST00000404971.1_Silent_p.D111D|NRXN1_ENST00000405472.3_Silent_p.D111D|NRXN1_ENST00000406859.3_Silent_p.D111D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	111	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D111D(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGGCGCCGTCGTTAACCG	0.662																																																	3	Substitution - coding silent(3)	cervix(3)											22	27	25					2																	51255079		2057	4196	6253	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.333C>T	2.37:g.51255079G>A			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.D111	ENST00000406316.2	37	c.333	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	G			51255079	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51255079	G	A	51255079	2	1	59	1	0	0	0	0	0	0	0	1	10689	1136	40	2		2	NRXN1	2	51255079	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	13658170	51255079	191944294	14	9133										
CCDC85A	114800	genome.wustl.edu	37	chr2	56603037	56603038	+	Nonsense_Mutation	DNP	CC	CC	TT													0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agtggacatgccacaccttcCcagcagcctgaacctgtggt							TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:56603037_56603038CC>TT	ENST00000407595.2	+	5	2041_2042	c.1539_1540CC>TT	c.(1537-1542)tcCCag>tcTTag	p.Q514*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	514								p.S513S(2)|p.Q514*(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCACACCTTCCCAGCAGCCTGA	0.48																																																	3	Substitution - coding silent(2)|Substitution - Nonsense(1)	cervix(2)|endometrium(1)																																								SO:0001587	stop_gained	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	Exception_encountered	2.37:g.56603037_56603038delinsTT	ENSP00000384040:p.Gln514*			Silent|Nonsense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.S513|p.Q514*	ENST00000407595.2	37	c.1539|c.1540	CCDS46290.1	2																																																																																			CCDC85A	-	NULL		0.48	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	C			56603037|56603038	1	no_errors	ENST00000407595	ensembl	human	known	70_37	silent|nonsense	SNP	1.000	T	TT	56603038	CC	TT	56603037	4	4	59	1	0	0	0	0	0	1	0	0	2864	610	22	4	1557	4	CCDC85A	2	56603037	Nonsense_Mutation	DNP	CC	TCGA-DS-A0VK-01A-21D-A10S-08	5347958	56603037	186596336	15	9134										
POLR1A	25885	genome.wustl.edu	37	chr2	86258468	86258468	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctgacctggcaccacaggctCtcctcggtgtcgtactggta	11	14	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:86258468C>T	ENST00000263857.6	-	30	4941	c.4563G>A	c.(4561-4563)gaG>gaA	p.E1521E	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1521					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.E1521E(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACCACAGGCTCTCCTCGGTGT	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											77	83	81					2																	86258468		2105	4212	6317	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4563G>A	2.37:g.86258468C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.E1521	ENST00000263857.6	37	c.4563	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.657	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86258468	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	0.207	T	T	86258468	C	T	86258468	2	4	59	1	0	0	0	0	0	0	0	1	12233	912	32	1		1	POLR1A	2	86258468	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	29655431	86258468	156940905	16	9135										
AFF3	3899	genome.wustl.edu	37	chr2	100185373	100185373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cataaaataatcggcactgcGaggcctacaaggagagaatg	11	8	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:100185373G>A	ENST00000409236.2	-	17	3035	c.2923C>T	c.(2923-2925)Cgc>Tgc	p.R975C	AFF3_ENST00000317233.4_Missense_Mutation_p.R975C|AFF3_ENST00000409579.1_Missense_Mutation_p.R1000C|AFF3_ENST00000356421.2_Missense_Mutation_p.R1000C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	975					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R1000C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGGCACTGCGAGGCCTACAA	0.368																																																	1	Substitution - Missense(1)	cervix(1)											156	144	148					2																	100185373		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2923C>T	2.37:g.100185373G>A	ENSP00000387207:p.Arg975Cys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R1000C	ENST00000409236.2	37	c.2998	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763699	0.89932	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.87	5.87	0.94306	.	0.058250	0.64402	D	0.000001	T	0.79684	0.4488	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.65443	0.935;0.917	T	0.79150	-0.1922	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	975;1000	P51826;P51826-2	AFF3_HUMAN;.	C	975;1000;1000;975;17	ENSP00000317421:R975C;ENSP00000348793:R1000C;ENSP00000386834:R1000C;ENSP00000387207:R975C;ENSP00000416685:R17C	ENSP00000317421:R975C	R	-	1	0	AFF3	99551805	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.100000	0.94213	2.941000	0.99782	0.655000	0.94253	CGC	AFF3	-	pfam_TF_AF4/FMR2		0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285		100185373	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100185373	G	A	100185373	3	1	59	1	0	0	0	0	1	0	0	0	358	1058	37	1	785	1	AFF3	2	100185373	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	13926905	100185373	143014000	17	9136										
NPAS2	4862	genome.wustl.edu	37	chr2	101611992	101611992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccagcccctacgtcctccccGaagggtcagcagtctgtctg	10	17	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:101611992G>A	ENST00000335681.5	+	21	2708	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.R873Q	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	808					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R808Q(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTCCTCCCCGAAGGGTCAGC	0.617																																																	1	Substitution - Missense(1)	cervix(1)											36	39	38					2																	101611992		2203	4299	6502	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2423G>A	2.37:g.101611992G>A	ENSP00000338283:p.Arg808Gln		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS	p.R873Q	ENST00000335681.5	37	c.2618	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630579	0.28978	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.04862	3.58;3.54	4.67	3.78	0.43462	.	0.839693	0.10553	N	0.661160	T	0.04092	0.0114	L	0.36672	1.1	0.30692	N	0.751209	P;B	0.37997	0.614;0.313	B;B	0.23150	0.044;0.011	T	0.12192	-1.0557	10	0.21540	T	0.41	.	5.8433	0.18645	0.1631:0.1669:0.67:0.0	.	873;808	F5H027;Q99743	.;NPAS2_HUMAN	Q	808;873	ENSP00000338283:R808Q;ENSP00000438428:R873Q	ENSP00000338283:R808Q	R	+	2	0	NPAS2	100978424	0.994000	0.37717	0.970000	0.41538	0.267000	0.26476	2.442000	0.44873	2.148000	0.66965	0.655000	0.94253	CGA	NPAS2	-	NULL		0.617	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	G			101611992	1	no_errors	ENST00000542504	ensembl	human	known	70_37	missense	SNP	0.901	A	A	101611992	G	A	101611992	3	1	59	1	0	0	0	0	1	0	0	0	10587	1058	37	1	2501	1	NPAS2	2	101611992	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	1426619	101611992	141587381	18	9137										
LRP2	4036	genome.wustl.edu	37	chr2	170022443	170022443	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccttttgacttttgcttacaGtgctcctctgtctcatcagt	6	12	3	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:170022443G>C	ENST00000263816.3	-	62	12042	c.11757C>G	c.(11755-11757)caC>caG	p.H3919Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3919	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.H3919Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTGCTTACAGTGCTCCTCTG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											247	232	237					2																	170022443		2203	4300	6503	SO:0001630	splice_region_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11758+1C>G	2.37:g.170022443G>C			O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H3919Q	ENST00000263816.3	37	c.11757	CCDS2232.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.912|5.912	0.352280|0.352280	0.11182|0.11182	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000263816|ENST00000536293	D|.	0.95272|.	-3.66|.	6.06|6.06	2.13|2.13	0.27403|0.27403	Low-density lipoprotein (LDL) receptor class A, conserved site (1);|.	0.758622|.	0.13461|.	N|.	0.386116|.	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.04297|0.04297	-0.235|-0.235	0.80722|0.80722	D|D	1|1	B|.	0.18310|.	0.027|.	B|.	0.17433|.	0.018|.	T|T	0.06570|0.06570	-1.0819|-1.0819	10|6	0.21014|0.08381	T|T	0.42|0.77	.|.	6.0937|6.0937	0.20008|0.20008	0.0599:0.32:0.4004:0.2197|0.0599:0.32:0.4004:0.2197	.|.	3919|.	P98164|.	LRP2_HUMAN|.	Q|S	3919|584	ENSP00000263816:H3919Q|.	ENSP00000263816:H3919Q|ENSP00000438157:T584S	H|T	-|-	3|2	2|0	LRP2|LRP2	169730689|169730689	1.000000|1.000000	0.71417|0.71417	0.288000|0.288000	0.24862|0.24862	0.306000|0.306000	0.27790|0.27790	1.286000|1.286000	0.33273|0.33273	0.105000|0.105000	0.17753|0.17753	-0.172000|-0.172000	0.13284|0.13284	CAC|ACT	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525	Missense_Mutation	170022443	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.740	C	C	170022443	G	C	170022443	5	2	59	1	0	0	0	0	0	0	1	0	8979	1043	36	4	2282	4	LRP2	2	170022443	Splice_Site	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	68410451	170022443	73176930	19	9138										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098799	178098799	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gctggctgaattgggagaaaTtcacctgtctcttcatctag	10	9	4	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:178098799T>A	ENST00000397062.3	-	2	800	c.246A>T	c.(244-246)gaA>gaT	p.E82D	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	9	Substitution - Missense(8)|Deletion - In frame(1)	endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)											138	137	137					2																	178098799		1903	4104	6007	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>T	2.37:g.178098799T>A	ENSP00000380252:p.Glu82Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E82D	ENST00000397062.3	37	c.246	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816244	0.90790	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA	NFE2L2	-	NULL		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	T	NM_006164		178098799	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178098799	T	A	178098799	3	1	59	1	0	0	0	0	1	0	0	0	10392	1490	52	5	1587	5	NFE2L2	2	178098799	Missense_Mutation	SNP	T	TCGA-DS-A0VK-01A-21D-A10S-08	8076356	178098799	65100574	20	9139										
SGOL2	151246	genome.wustl.edu	37	chr2	201440108	201440108	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctgaatctgaaaataagtcaGaagatctatcttcagaacgg	8	7	5	5			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:201440108G>C	ENST00000357799.4	+	8	3804	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1236					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E1236Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATAAGTCAGAAGATCTATC	0.333																																																	1	Substitution - Missense(1)	cervix(1)											80	76	77					2																	201440108		1816	4069	5885	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3706G>C	2.37:g.201440108G>C	ENSP00000350447:p.Glu1236Gln		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.E1236Q	ENST00000357799.4	37	c.3706	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757006	0.69648	.	.	ENSG00000163535	ENST00000357799	T	0.16597	2.33	5.53	4.65	0.58169	.	0.000000	0.50627	D	0.000112	T	0.34513	0.0900	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63283	0.913;0.913	T	0.09400	-1.0676	10	0.87932	D	0	-14.2235	11.3453	0.49556	0.0835:0.0:0.9165:0.0	.	1236;1236	Q562F6-2;Q562F6	.;SGOL2_HUMAN	Q	1236	ENSP00000350447:E1236Q	ENSP00000350447:E1236Q	E	+	1	0	SGOL2	201148353	0.919000	0.31177	0.554000	0.28268	0.290000	0.27261	1.808000	0.38912	1.575000	0.49775	0.573000	0.79308	GAA	SGOL2	-	NULL		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201440108	1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.540	C	C	201440108	G	C	201440108	3	2	59	1	0	0	0	0	1	0	0	0	14247	943	33	1	3732	1	SGOL2	2	201440108	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	23341309	201440108	41759265	21	9140										
ACSL3	2181	genome.wustl.edu	37	chr2	223789234	223789234	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tcagtgaaatgagtagttttCaacgtaatctgtttattctg	8	5	4	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:223789234C>T	ENST00000357430.3	+	11	1744	c.1213C>T	c.(1213-1215)Caa>Taa	p.Q405*	ACSL3_ENST00000392066.3_Nonsense_Mutation_p.Q405*	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	405					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q405*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAGTAGTTTTCAACGTAATCT	0.318			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Nonsense(2)	cervix(2)											98	94	96					2																	223789234		2203	4299	6502	SO:0001587	stop_gained	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1213C>T	2.37:g.223789234C>T	ENSP00000350012:p.Gln405*		Q60I92|Q8IUM9	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q405*	ENST00000357430.3	37	c.1213	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.487940	0.99414	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	.	.	.	5.78	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5998	16.3214	0.82952	0.1332:0.8668:0.0:0.0	.	.	.	.	X	405;405;175	.	ENSP00000350012:Q405X	Q	+	1	0	ACSL3	223497478	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	7.726000	0.84824	1.440000	0.47531	0.591000	0.81541	CAA	ACSL3	-	pfam_AMP-dep_Synth/Lig		0.318	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	C	NM_004457		223789234	1	no_errors	ENST00000357430	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	223789234	C	T	223789234	4	4	59	1	0	0	0	0	0	1	0	0	178	827	29	1	1243	1	ACSL3	2	223789234	Nonsense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	22349126	223789234	19410139	22	9141										
IQCA1	79781	genome.wustl.edu	37	chr2	237272528	237272528	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttggctcccgtttcggtgcaGatggcatggaccagcatttt	12	10	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:237272528G>C	ENST00000409907.3	-	15	2038	c.1764C>G	c.(1762-1764)atC>atG	p.I588M	IQCA1_ENST00000309507.5_Missense_Mutation_p.I585M|IQCA1_ENST00000431676.2_Missense_Mutation_p.I547M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	588							ATP binding (GO:0005524)	p.I596M(1)|p.I588M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTCGGTGCAGATGGCATGGA	0.507																																																	2	Substitution - Missense(2)	cervix(2)											179	177	178					2																	237272528		2000	4159	6159	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1764C>G	2.37:g.237272528G>C	ENSP00000387347:p.Ile588Met		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.I588M	ENST00000409907.3	37	c.1764	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094376	0.56075	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.90133	-2.62;-2.62;-2.62	4.66	3.71	0.42584	ATPase, AAA-type, core (1);	0.190318	0.34802	N	0.003675	D	0.93539	0.7938	M	0.79011	2.435	0.39156	D	0.962314	P;B;P	0.46621	0.787;0.433;0.881	P;B;P	0.56216	0.794;0.411;0.672	D	0.94673	0.7858	10	0.59425	D	0.04	.	13.7288	0.62774	0.0:0.277:0.723:0.0	.	547;596;588	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	M	588;596;585;547;585	ENSP00000387347:I588M;ENSP00000311951:I585M;ENSP00000407213:I547M	ENSP00000254653:I589M	I	-	3	3	IQCA1	236937267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.156000	0.42310	2.128000	0.65567	0.561000	0.74099	ATC	IQCA1	-	pfam_ATPase_AAA_core		0.507	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	G	NM_024726		237272528	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	1.000	C	C	237272528	G	C	237272528	3	2	59	1	0	0	0	0	1	0	0	0	7822	932	33	1	724	1	IQCA1	2	237272528	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	13483294	237272528	5926845	23	9142										
SLC6A11	6538	genome.wustl.edu	37	chr3	10916770	10916770	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccctgacctctcccggctctCcgacccccaggtaagagtcg	9	19	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:10916770C>G	ENST00000254488.2	+	6	947	c.881C>G	c.(880-882)tCc>tGc	p.S294C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	294					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S294C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCCCGGCTCTCCGACCCCCAG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											83	76	79					3																	10916770		2203	4300	6503	SO:0001583	missense	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.881C>G	3.37:g.10916770C>G	ENSP00000254488:p.Ser294Cys		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.S294C	ENST00000254488.2	37	c.881	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663617	0.67700	.	.	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.46819	1.47	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.78453	-0.2198	10	0.35671	T	0.21	.	13.4284	0.61039	0.1571:0.8429:0.0:0.0	.	294	P48066	S6A11_HUMAN	C	294	ENSP00000254488:S294C	ENSP00000254488:S294C	S	+	2	0	SLC6A11	10891770	1.000000	0.71417	0.963000	0.40424	0.719000	0.41307	5.544000	0.67231	2.465000	0.83290	0.591000	0.81541	TCC	SLC6A11	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	C	NM_014229		10916770	1	no_errors	ENST00000254488	ensembl	human	known	70_37	missense	SNP	0.998	G	G	10916770	C	G	10916770	3	3	59	1	0	0	0	0	1	0	0	0	14704	855	30	1	903	1	SLC6A11	3	10916770	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		10916770	187105660	24	9143										
SCN5A	6331	genome.wustl.edu	37	chr3	38648201	38648201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gcagtcctgcgtcatcaggcGgaagagtgcaagaaaggccc	14	11	2	2	rs199473097		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:38648201G>A	ENST00000333535.4	-	9	1248	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	SCN5A_ENST00000425664.1_Missense_Mutation_p.R367C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R367C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R367C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R367C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R367C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R367C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R367C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R367C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R367C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	367			R -> C (in BRGDA1; express no current; dbSNP:rs28937318). {ECO:0000269|PubMed:12106943, ECO:0000269|PubMed:19251209}.|R -> H (in BRGDA1; express no current; dbSNP:rs28937318). {ECO:0000269|PubMed:19251209}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R367C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCATCAGGCGGAAGAGTGCA	0.607																																																	2	Substitution - Missense(2)	cervix(2)	GRCh37	CM023672	SCN5A	M							71	87	82					3																	38648201		2050	4214	6264	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1099C>T	3.37:g.38648201G>A	ENSP00000328968:p.Arg367Cys		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R367C	ENST00000333535.4	37	c.1099	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505768	0.85282	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.73	4.73	0.59995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.999;0.931	D	0.99612	1.0981	10	0.87932	D	0	.	17.9036	0.88912	0.0:0.0:1.0:0.0	.	367;367;367;367;367;367	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	367	ENSP00000398962:R367C;ENSP00000398266:R367C;ENSP00000410257:R367C;ENSP00000388797:R367C;ENSP00000397915:R367C;ENSP00000416634:R367C;ENSP00000328968:R367C;ENSP00000399524:R367C;ENSP00000403355:R367C;ENSP00000413996:R367C	ENSP00000328968:R367C	R	-	1	0	SCN5A	38623205	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.917000	0.63369	2.462000	0.83206	0.557000	0.71058	CGC	SCN5A	-	pfam_Ion_trans_dom		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	G	NM_198056		38648201	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38648201	G	A	38648201	3	1	59	1	0	0	0	0	1	0	0	0	13952	1116	39	2	5031	2	SCN5A	3	38648201	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	27731431	38648201	159374229	25	9144										
IFT122	55764	genome.wustl.edu	37	chr3	129236334	129236334	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gtgctacacctggttgagttCtacctggaggaagggatcac	13	9	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:129236334C>T	ENST00000348417.2	+	27	3365	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	IFT122_ENST00000347300.2_Silent_p.F1037F|IFT122_ENST00000296266.3_Silent_p.F1147F|IFT122_ENST00000431818.2_Silent_p.F946F|IFT122_ENST00000349441.2_Silent_p.F986F|IFT122_ENST00000507564.1_Silent_p.F1089F|IFT122_ENST00000440957.2_Silent_p.F887F|IFT122_ENST00000504021.1_Silent_p.F973F	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1096					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.F1147F(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGTTGAGTTCTACCTGGAGG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											136	109	118					3																	129236334		2203	4300	6503	SO:0001819	synonymous_variant	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3288C>T	3.37:g.129236334C>T			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1147	ENST00000348417.2	37	c.3441	CCDS3061.1	3																																																																																			IFT122	-	NULL		0.572	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	C	NM_018262		129236334	1	no_errors	ENST00000296266	ensembl	human	known	70_37	silent	SNP	1.000	T	T	129236334	C	T	129236334	2	4	59	1	0	0	0	0	0	0	0	1	7575	912	32	1		1	IFT122	3	129236334	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	90588133	129236334	68786096	26	9145										
TMEM22	80723	genome.wustl.edu	37	chr3	136574394	136574394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gctatggtcttgcagcttctCgtgctgcacatatttcctag	9	11	2	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:136574394C>T	ENST00000446465.2	+	2	1720	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.L364L	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.L364L(2)									TGCAGCTTCTCGTGCTGCACA	0.393																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											215	199	204					3																	136574394		2203	4300	6503	SO:0001819	synonymous_variant	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.1092C>T	3.37:g.136574394C>T				Silent	SNP	pfam_DMT	p.L364	ENST00000446465.2	37	c.1092	CCDS3091.1	3																																																																																			SLC35G2	-	pfam_DMT		0.393	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G2	HGNC	protein_coding	OTTHUMT00000357317.1	C	NM_025246		136574394	1	no_errors	ENST00000393079	ensembl	human	known	70_37	silent	SNP	0.999	T	T	136574394	C	T	136574394	2	4	59	1	0	0	0	0	0	0	0	1	16173	871	31	1		1	TMEM22	3	136574394	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	7338060	136574394	61448036	27	9146										
DZIP1L	199221	genome.wustl.edu	37	chr3	137811366	137811366	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttcttagcttctatttccctCtgatgaatgagctctgcttc	6	11	4	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:137811366C>G	ENST00000327532.2	-	5	1091	c.729G>C	c.(727-729)caG>caC	p.Q243H	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q243H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	243					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.Q243H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTATTTCCCTCTGATGAATGA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											135	138	137					3																	137811366		2203	4298	6501	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.729G>C	3.37:g.137811366C>G	ENSP00000332148:p.Gln243His		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.Q243H	ENST00000327532.2	37	c.729	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	C	4.076	0.011974	0.07912	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.56444	0.46;0.46	5.57	3.76	0.43208	.	0.280340	0.29383	N	0.012317	T	0.43033	0.1229	L	0.50333	1.59	0.25715	N	0.985439	P;P	0.40083	0.64;0.702	B;B	0.35470	0.203;0.074	T	0.42882	-0.9425	10	0.56958	D	0.05	-25.6474	9.7633	0.40545	0.0:0.8362:0.0:0.1638	.	243;243	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	H	243	ENSP00000332148:Q243H;ENSP00000419486:Q243H	ENSP00000332148:Q243H	Q	-	3	2	DZIP1L	139294056	0.999000	0.42202	0.934000	0.37439	0.047000	0.14425	0.659000	0.24994	1.341000	0.45600	0.655000	0.94253	CAG	DZIP1L	-	NULL		0.333	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	C	NM_173543		137811366	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	missense	SNP	0.997	G	G	137811366	C	G	137811366	3	3	59	1	0	0	0	0	1	0	0	0	4874	912	32	1	1631	1	DZIP1L	3	137811366	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	1236972	137811366	60211064	28	9147										
ZBTB38	253461	genome.wustl.edu	37	chr3	141162660	141162660	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaccttatctagcctccgaaGacatgcaaatgttcactcct	6	13	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141162660G>C	ENST00000514251.1	+	4	1709	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R478T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R477T					zinc finger and BTB domain containing 38									p.R477T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGCCTCCGAAGACATGCAAAT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											84	82	82					3																	141162660		1933	4133	6066	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1430G>C	3.37:g.141162660G>C	ENSP00000426387:p.Arg477Thr			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R478T	ENST00000514251.1	37	c.1433	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996956	0.74818	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	N	0.25647	0.755	0.40614	D	0.981701	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59799	-0.7386	9	.	.	.	-28.8077	19.5375	0.95260	0.0:0.0:1.0:0.0	.	478;477	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	477;477;477;478	ENSP00000424254:R477T;ENSP00000426387:R477T;ENSP00000406955:R477T;ENSP00000372635:R478T	.	R	+	2	0	ZBTB38	142645350	1.000000	0.71417	0.851000	0.33527	0.997000	0.91878	9.476000	0.97823	2.626000	0.88956	0.650000	0.86243	AGA	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141162660	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.999	C	C	141162660	G	C	141162660	3	2	59	1	0	0	0	0	1	0	0	0	17569	942	33	1	1432	1	ZBTB38	3	141162660	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	3351294	141162660	56859770	29	9148			1	40		3	3	1503	G		2.103001e-05
ZBTB38	253461	genome.wustl.edu	37	chr3	141162767	141162767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	atgaaatttggcatacgggaGaaagacgatatcagtgcatt	11	5	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141162767G>A	ENST00000514251.1	+	4	1816	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E514K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E513K					zinc finger and BTB domain containing 38									p.E513K(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCATACGGGAGAAAGACGATA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											95	87	89					3																	141162767		1903	4128	6031	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1537G>A	3.37:g.141162767G>A	ENSP00000426387:p.Glu513Lys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E514K	ENST00000514251.1	37	c.1540	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807262	0.90623	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.39	5.39	0.77823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.058024	0.64402	D	0.000003	T	0.48114	0.1482	L	0.55990	1.75	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.78314	0.978;0.991	T	0.27706	-1.0066	9	.	.	.	-27.254	19.1701	0.93574	0.0:0.0:1.0:0.0	.	514;513	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	513;513;513;514	ENSP00000424254:E513K;ENSP00000426387:E513K;ENSP00000406955:E513K;ENSP00000372635:E514K	.	E	+	1	0	ZBTB38	142645457	1.000000	0.71417	0.754000	0.31244	0.918000	0.54935	9.476000	0.97823	2.543000	0.85770	0.650000	0.86243	GAA	ZBTB38	-	pfscan_Znf_C2H2		0.388	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141162767	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141162767	G	A	141162767	3	1	59	1	0	0	0	0	1	0	0	0	17569	943	33	1	1539	1	ZBTB38	3	141162767	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	107	141162767	56859663	30	9149			1	40		3	3	1503	G		2.103001e-05
ZBTB38	253461	genome.wustl.edu	37	chr3	141164162	141164162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttgaggaagaagaaactaaaGagatgcccaagctgcagtgt	12	6	0	4			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141164162G>C	ENST00000514251.1	+	4	3211	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E979Q|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E978Q					zinc finger and BTB domain containing 38									p.E978Q(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAAACTAAAGAGATGCCCAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											28	29	29					3																	141164162		1936	4152	6088	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2932G>C	3.37:g.141164162G>C	ENSP00000426387:p.Glu978Gln			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E979Q	ENST00000514251.1	37	c.2935	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585974	0.28268	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09350	3.0;3.0;2.99	5.65	4.77	0.60923	.	0.340374	0.27986	N	0.017055	T	0.07279	0.0184	L	0.32530	0.975	0.09310	N	1	B;B	0.26195	0.144;0.144	B;B	0.14023	0.01;0.01	T	0.25676	-1.0125	9	.	.	.	-15.1596	7.1219	0.25450	0.1406:0.1485:0.7109:0.0	.	979;978	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Q	978;978;979	ENSP00000426387:E978Q;ENSP00000406955:E978Q;ENSP00000372635:E979Q	.	E	+	1	0	ZBTB38	142646852	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.717000	0.47227	2.665000	0.90641	0.650000	0.86243	GAG	ZBTB38	-	NULL		0.517	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141164162	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.109	C	C	141164162	G	C	141164162	3	2	59	1	0	0	0	0	1	0	0	0	17569	943	33	1	2934	1	ZBTB38	3	141164162	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	1395	141164162	56858268	31	9150			1	40		3	3	1503	G		2.103001e-05
ATR	545	genome.wustl.edu	37	chr3	142180859	142180859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	attcaataatcccacattcaTcatttagtggaataactgca	4	9	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:142180859T>G	ENST00000350721.4	-	42	7236	c.7115A>C	c.(7114-7116)gAt>gCt	p.D2372A	ATR_ENST00000383101.3_Missense_Mutation_p.D2308A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2372	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D2372A(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCCACATTCATCATTTAGTGG	0.313								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	cervix(1)											139	143	142					3																	142180859		2203	4298	6501	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7115A>C	3.37:g.142180859T>G	ENSP00000343741:p.Asp2372Ala		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.D2372A	ENST00000350721.4	37	c.7115	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.87|17.87	3.495952|3.495952	0.64186|0.64186	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.83419|.	-1.72;-1.72|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.051477|.	0.85682|.	D|.	0.000000|.	T|.	0.55561|.	0.1928|.	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	P|.	0.43938|.	0.822|.	B|.	0.40702|.	0.338|.	T|.	0.52268|.	-0.8598|.	10|.	0.59425|.	D|.	0.04|.	-7.9269|-7.9269	15.6078|15.6078	0.76689|0.76689	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2372|.	Q13535|.	ATR_HUMAN|.	A|C	2372;2308|218	ENSP00000343741:D2372A;ENSP00000372581:D2308A|.	ENSP00000343741:D2372A|.	D|X	-|-	2|3	0|0	ATR|ATR	143663549|143663549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.997000|7.997000	0.88414|0.88414	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	GAT|TGA	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	T	NM_001184		142180859	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142180859	T	G	142180859	3	3	59	1	0	0	0	0	1	0	0	0	1205	1435	50	5	843	5	ATR	3	142180859	Missense_Mutation	SNP	T	TCGA-DS-A0VK-01A-21D-A10S-08	1016697	142180859	55841571	32	9151										
PSMD2	5708	genome.wustl.edu	37	chr3	184026613	184026613	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aattggccactgaggagtttCttcctgttacccccattctg	8	12	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:184026613C>T	ENST00000310118.4	+	21	3220	c.2662C>T	c.(2662-2664)Ctt>Ttt	p.L888F	PSMD2_ENST00000435761.1_Missense_Mutation_p.L729F|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L758F	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	888					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L888F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)												1	Substitution - Missense(1)	cervix(1)											120	124	123					3																	184026613		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2662C>T	3.37:g.184026613C>T	ENSP00000310129:p.Leu888Phe	1989	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.L888F	ENST00000310118.4	37	c.2662	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316823	0.40996	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.41758	0.99;0.99;0.99	5.72	3.91	0.45181	.	0.136911	0.49916	N	0.000137	T	0.25644	0.0624	L	0.35542	1.07	0.51233	D	0.999918	B;B	0.32968	0.008;0.392	B;B	0.26416	0.009;0.069	T	0.13522	-1.0506	10	0.59425	D	0.04	-12.474	4.921	0.13869	0.1329:0.6208:0.1294:0.1169	.	729;888	E9PCS3;Q13200	.;PSMD2_HUMAN	F	888;560;880;729;758	ENSP00000310129:L888F;ENSP00000402618:L729F;ENSP00000416028:L758F	ENSP00000310129:L888F	L	+	1	0	PSMD2	185509307	0.854000	0.29725	1.000000	0.80357	0.997000	0.91878	0.412000	0.21131	2.691000	0.91804	0.655000	0.94253	CTT	PSMD2	-	pirsf_26S_Psome_Rpn1		0.527	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1	C	NM_002808		184026613	1	no_errors	ENST00000310118	ensembl	human	known	70_37	missense	SNP	0.999	T	T	184026613	C	T	184026613	3	4	59	1	0	0	0	0	1	0	0	0	12725	913	32	1	2744	1	PSMD2	3	184026613	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	41845754	184026613	13995817	33	9152										
DCAF16	54876	genome.wustl.edu	37	chr4	17805707	17805707	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	atttaggtaactaatattttCttcttcctcactttctgatt	3	8	4	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:17805707C>A	ENST00000382247.1	-	3	1118	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	DCAF16_ENST00000536863.1_Nonsense_Mutation_p.E20*|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	20	Poly-Glu.				protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.E20*(1)		cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CTAATATTTTCTTCTTCCTCA	0.418																																																	1	Substitution - Nonsense(1)	cervix(1)											52	54	53					4																	17805707		2203	4300	6503	SO:0001587	stop_gained	54876			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.58G>T	4.37:g.17805707C>A	ENSP00000371682:p.Glu20*		B3KPB7	Nonsense_Mutation	SNP	NULL	p.E20*	ENST00000382247.1	37	c.58	CCDS3423.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.662630	0.98419	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	.	.	.	3.71	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.7519	7.387	0.26888	0.0:0.8809:0.0:0.1191	.	.	.	.	X	20	.	ENSP00000371682:E20X	E	-	1	0	DCAF16	17414805	0.845000	0.29573	0.940000	0.37924	0.006000	0.05464	1.150000	0.31639	1.145000	0.42336	-0.291000	0.09656	GAA	DCAF16	-	NULL		0.418	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	HGNC	protein_coding	OTTHUMT00000250371.1	C	NM_017741		17805707	-1	no_errors	ENST00000382247	ensembl	human	known	70_37	nonsense	SNP	0.960	A	A	17805707	C	A	17805707	4	1	59	1	0	0	0	0	0	1	0	0	4273	922	32	3	596	3	DCAF16	4	17805707	Nonsense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		17805707	173348569	34	9153										
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68780365	68780365	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaacattccaggttttatatCattgccatacacctgtggtt	7	9	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:68780365C>G	ENST00000334830.7	-	9	1791	c.1045G>C	c.(1045-1047)Gat>Cat	p.D349H	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D346H|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.D345H			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	349	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D349H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTTTTATATCATTGCCATAC	0.383																																					NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	cervix(1)											139	131	134					4																	68780365		2203	4300	6503	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1045G>C	4.37:g.68780365C>G	ENSP00000334611:p.Asp349His		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D349H	ENST00000334830.7	37	c.1045	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	9.441	1.087960	0.20390	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.93	2.22	0.28083	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.466191	0.19863	N	0.104382	D	0.84933	0.5582	N	0.14661	0.345	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	T	0.73519	-0.3957	10	0.41790	T	0.15	.	2.9611	0.05893	0.1366:0.4541:0.2644:0.1449	.	346;349	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	H	345;349;346;313	ENSP00000426911:D345H;ENSP00000334611:D349H;ENSP00000379491:D346H;ENSP00000427621:D313H	ENSP00000334611:D349H	D	-	1	0	TMPRSS11A	68462960	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.178000	0.16820	0.097000	0.17492	0.591000	0.81541	GAT	TMPRSS11A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6		0.383	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	C	NM_182606		68780365	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	missense	SNP	0.000	G	G	68780365	C	G	68780365	3	3	59	1	0	0	0	0	1	0	0	0	16269	826	29	1	228	1	TMPRSS11A	4	68780365	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	50974658	68780365	122373911	35	9154										
HADH	3033	genome.wustl.edu	37	chr4	108953508	108953508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	caaacgtgtggtgattctaaCtcgggtttgggcttttcttt	11	7	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:108953508C>T	ENST00000403312.1	+	7	954	c.912C>T	c.(910-912)aaC>aaT	p.N304N	HADH_ENST00000454409.2_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000603302.1_Silent_p.N245N|HADH_ENST00000505878.1_Intron	NM_001184705.2	NP_001171634.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	566					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.N245N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GTGATTCTAACTCGGGTTTGG	0.418																																																	1	Substitution - coding silent(1)	cervix(1)											285	285	285					4																	108953508		876	1991	2867	SO:0001819	synonymous_variant	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000403312.1:c.912C>T	4.37:g.108953508C>T			B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like	p.N245	ENST00000403312.1	37	c.735		4																																																																																			HADH	-	superfamily_6-PGluconate_DH_C-like		0.418	HADH-002	KNOWN	basic	protein_coding	HADH	HGNC	protein_coding	OTTHUMT00000254751.3	C	NM_005327		108953508	1	no_errors	ENST00000403312	ensembl	human	known	70_37	silent	SNP	0.000	T	T	108953508	C	T	108953508	2	4	59	1	0	0	0	0	0	0	0	1	6962	564	20	4		4	HADH	4	108953508	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	40173143	108953508	82200768	36	9155										
NDST4	64579	genome.wustl.edu	37	chr4	115998171	115998171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	caatgttcgaaaacttctccGaagtttcacaataagattca	5	9	3	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:115998171G>A	ENST00000264363.2	-	2	700	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	8					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R8W(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAACTTCTCCGAAGTTTCACA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											21	22	22					4																	115998171		2202	4299	6501	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.22C>T	4.37:g.115998171G>A	ENSP00000264363:p.Arg8Trp		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R8W	ENST00000264363.2	37	c.22	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692943	0.68271	.	.	ENSG00000138653	ENST00000264363	T	0.38722	1.12	5.12	5.12	0.69794	.	0.263218	0.37669	N	0.001986	T	0.42471	0.1204	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.48677	0.586	T	0.34625	-0.9821	10	0.52906	T	0.07	.	13.5255	0.61593	0.0:0.0:0.8439:0.1561	.	8	Q9H3R1	NDST4_HUMAN	W	8	ENSP00000264363:R8W	ENSP00000264363:R8W	R	-	1	2	NDST4	116217620	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	6.609000	0.74173	2.377000	0.81083	0.411000	0.27672	CGG	NDST4	-	NULL		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	G	NM_022569		115998171	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115998171	G	A	115998171	3	1	59	1	0	0	0	0	1	0	0	0	10282	1057	37	1	2648	1	NDST4	4	115998171	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	7044663	115998171	75156105	37	9156										
FAT4	79633	genome.wustl.edu	37	chr4	126398366	126398366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aggtatcagatctctagaacCaatccttcagagaagaggac	9	9	3	4			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:126398366C>A	ENST00000394329.3	+	13	12363	c.12350C>A	c.(12349-12351)cCa>cAa	p.P4117Q	FAT4_ENST00000335110.5_Missense_Mutation_p.P2380Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4117	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4117Q(2)|p.P4082Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTCTAGAACCAATCCTTCAG	0.393																																																	4	Substitution - Missense(4)	cervix(2)|large_intestine(2)											167	172	170					4																	126398366		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12350C>A	4.37:g.126398366C>A	ENSP00000377862:p.Pro4117Gln		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4117Q	ENST00000394329.3	37	c.12350	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316718	0.60524	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76968	-1.06;-1.06	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34314	U	0.004068	D	0.85323	0.5670	L	0.60067	1.865	0.58432	D	0.999997	D;D;P	0.55385	0.971;0.967;0.9	P;P;P	0.60012	0.718;0.867;0.718	D	0.85287	0.1065	10	0.54805	T	0.06	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	2380;4117;4117	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	4117;2380	ENSP00000377862:P4117Q;ENSP00000335169:P2380Q	ENSP00000335169:P2380Q	P	+	2	0	FAT4	126617816	1.000000	0.71417	0.142000	0.22268	0.122000	0.20287	5.614000	0.67695	2.626000	0.88956	0.650000	0.86243	CCA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126398366	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	0.986	A	A	126398366	C	A	126398366	3	1	59	1	0	0	0	0	1	0	0	0	5710	594	21	4	12400	4	FAT4	4	126398366	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	10400195	126398366	64755910	38	9157										
CHD1	1105	genome.wustl.edu	37	chr5	98212254	98212254	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cgcctcccttcacttccattGaaactaatctggaattggaa	6	12	2	1	rs34603291		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:98212254G>A	ENST00000284049.3	-	23	3395	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1082					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.F1082F(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACTTCCATTGAAACTAATCT	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											81	80	80					5																	98212254		2203	4300	6503	SO:0001819	synonymous_variant	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3246C>T	5.37:g.98212254G>A			Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.F1082	ENST00000284049.3	37	c.3246	CCDS34204.1	5																																																																																			CHD1	-	NULL		0.388	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	G	NM_001270		98212254	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	silent	SNP	1.000	A	A	98212254	G	A	98212254	2	1	59	1	0	0	0	0	0	0	0	1	3328	1281	45	1		1	CHD1	5	98212254	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08		98212254	82703006	39	9158										
SEC24A	10802	genome.wustl.edu	37	chr5	134002535	134002535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccttctgtacctcccttagtGaatccacctctgcctacaac	4	17	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:134002535G>A	ENST00000398844.2	+	3	876	c.588G>A	c.(586-588)gtG>gtA	p.V196V	SEC24A_ENST00000322887.4_Silent_p.V196V	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	196	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.V196V(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCCTTAGTGAATCCACCTC	0.527																																																	1	Substitution - coding silent(1)	cervix(1)											81	83	82					5																	134002535		1859	4100	5959	SO:0001819	synonymous_variant	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.588G>A	5.37:g.134002535G>A			A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.V196	ENST00000398844.2	37	c.588	CCDS43363.1	5																																																																																			SEC24A	-	NULL		0.527	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	G			134002535	1	no_errors	ENST00000398844	ensembl	human	known	70_37	silent	SNP	0.580	A	A	134002535	G	A	134002535	2	1	59	1	0	0	0	0	0	0	0	1	14024	1277	45	1		1	SEC24A	5	134002535	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	35790281	134002535	46912725	40	9159										
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755393	140755393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gtggagctggcgccccgctcCgcagagcccggctacctggt	15	16	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:140755393C>T	ENST00000517434.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	581	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S581S(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCGCTCCGCAGAGCCCG	0.667																																																	1	Substitution - coding silent(1)	cervix(1)											74	90	85					5																	140755393		2200	4295	6495	SO:0001819	synonymous_variant	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1743C>T	5.37:g.140755393C>T			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S581	ENST00000517434.1	37	c.1743	CCDS54926.1	5																																																																																			PCDHGA6	-	superfamily_Cadherin-like,pfscan_Cadherin		0.667	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	C	NM_018919		140755393	1	no_errors	ENST00000517434	ensembl	human	known	70_37	silent	SNP	0.007	T	T	140755393	C	T	140755393	2	4	59	1	0	0	0	0	0	0	0	1	11582	639	23	2		2	PCDHGA6	5	140755393	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	6752858	140755393	40159867	41	9160										
SLC36A2	153201	genome.wustl.edu	37	chr5	150696422	150696422	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggaaaaggggtgagagtcttCtgacttgagcagctcgtcca	14	8	2	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:150696422C>T	ENST00000335244.4	-	10	1537	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	SLC36A2_ENST00000450886.1_Missense_Mutation_p.E194K	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	470					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.E470K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGAGAGTCTTCTGACTTGAGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											70	74	73					5																	150696422		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1408G>A	5.37:g.150696422C>T	ENSP00000334223:p.Glu470Lys		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E470K	ENST00000335244.4	37	c.1408	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	C	4.934	0.173545	0.09391	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.09255	3.8;3.0	4.92	-1.58	0.08479	.	1.221440	0.05231	N	0.510323	T	0.06735	0.0172	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39742	-0.9599	10	0.07644	T	0.81	15.9304	5.494	0.16791	0.0:0.4307:0.2507:0.3186	.	470	Q495M3	S36A2_HUMAN	K	470;194	ENSP00000334223:E470K;ENSP00000399479:E194K	ENSP00000334223:E470K	E	-	1	0	SLC36A2	150676615	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.068000	0.14531	-0.125000	0.11703	0.650000	0.86243	GAA	SLC36A2	-	NULL		0.552	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	C			150696422	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	missense	SNP	0.000	T	T	150696422	C	T	150696422	3	4	59	1	0	0	0	0	1	0	0	0	14624	922	32	1	47	1	SLC36A2	5	150696422	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	9941029	150696422	30218838	42	9161										
C6orf195	154386	genome.wustl.edu	37	chr6	2623874	2623874	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gtgccgacaaggccggacccGggaggggagaggagcctgta	19	10	0	1	rs547228602		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:2623874G>C	ENST00000296847.3	-	3	706	c.183C>G	c.(181-183)ccC>ccG	p.P61P		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	61								p.P61P(2)		cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGCCGGACCCGGGAGGGGAGA	0.632																																																	2	Substitution - coding silent(2)	cervix(1)|endometrium(1)											61	70	67					6																	2623874		2002	4158	6160	SO:0001819	synonymous_variant	154386			AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.183C>G	6.37:g.2623874G>C			Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Silent	SNP	NULL	p.P61	ENST00000296847.3	37	c.183	CCDS43416.1	6																																																																																			C6orf195	-	NULL		0.632	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf195	HGNC	protein_coding	OTTHUMT00000039633.1	G	NM_152554		2623874	-1	no_errors	ENST00000296847	ensembl	human	known	70_37	silent	SNP	0.001	C	C	2623874	G	C	2623874	2	2	59	1	0	0	0	0	0	0	0	1	2355	1103	39	2		2	C6orf195	6	2623874	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08		2623874	168491193	43	9162										
PSMB8	5696	genome.wustl.edu	37	chr6	32810860	32810860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	acccagggactggaagaattCtgtgggctgataagagaaaa	13	6	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:32810860C>T	ENST00000374882.3	-	2	204	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	PSMB8_ENST00000374881.2_Missense_Mutation_p.E48K|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000395339.3_Missense_Mutation_p.E52K	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.E52K(1)|p.E48K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TGGAAGAATTCTGTGGGCTGA	0.488																																					NSCLC(48;53 1172 10859 13624 22883)												2	Substitution - Missense(2)	cervix(2)											64	65	64					6																	32810860		1511	2709	4220	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.154G>A	6.37:g.32810860C>T	ENSP00000364016:p.Glu52Lys		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.E52K	ENST00000374882.3	37	c.154	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666124	0.29604	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.39787	1.06;1.82;1.81	5.84	5.84	0.93424	.	0.562968	0.19482	N	0.113190	T	0.16685	0.0401	L	0.43757	1.38	0.09310	N	1	B;B;B	0.28880	0.226;0.017;0.0	B;B;B	0.28709	0.093;0.012;0.004	T	0.06534	-1.0821	10	0.15499	T	0.54	-13.0499	10.9902	0.47545	0.0:0.9157:0.0:0.0843	.	52;48;52	B7Z6U7;P28062-2;P28062	.;.;PSB8_HUMAN	K	52;52;48	ENSP00000378748:E52K;ENSP00000364016:E52K;ENSP00000364015:E48K	ENSP00000364015:E48K	E	-	1	0	PSMB8	32918838	0.004000	0.15560	0.075000	0.20258	0.294000	0.27393	1.858000	0.39408	2.761000	0.94854	0.643000	0.83706	GAA	PSMB8	-	NULL		0.488	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	C	NM_148919		32810860	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	0.012	T	T	32810860	C	T	32810860	3	4	59	1	0	0	0	0	1	0	0	0	12710	922	32	1	696	1	PSMB8	6	32810860	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	30186986	32810860	138304207	44	9163										
MDN1	23195	genome.wustl.edu	37	chr6	90396657	90396657	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttgttcctgcatgtgcttctCaagcatctgatagatggaga	10	8	2	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:90396657C>G	ENST00000369393.3	-	69	11651	c.11536G>C	c.(11536-11538)Gag>Cag	p.E3846Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E3846Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3846					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E3846Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGTGCTTCTCAAGCATCTGA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											187	170	176					6																	90396657		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11536G>C	6.37:g.90396657C>G	ENSP00000358400:p.Glu3846Gln		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E3846Q	ENST00000369393.3	37	c.11536	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118417	0.77323	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.17319	-1.0373	10	0.26408	T	0.33	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	3846	Q9NU22	MDN1_HUMAN	Q	3846	ENSP00000358400:E3846Q;ENSP00000413970:E3846Q	ENSP00000358400:E3846Q	E	-	1	0	MDN1	90453378	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.807000	0.96579	0.591000	0.81541	GAG	MDN1	-	pirsf_Midasin		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90396657	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90396657	C	G	90396657	3	3	59	1	0	0	0	0	1	0	0	0	9438	835	29	1	5390	1	MDN1	6	90396657	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	57585797	90396657	80718410	45	9164										
KIAA0776	23376	genome.wustl.edu	37	chr6	96988513	96988513	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aaaaggataaaaaagatgagCgaagaaggaaagcaacaggt	12	3	0	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:96988513C>T	ENST00000369278.4	+	11	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	421					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.R421*(1)									AAAAGATGAGCGAAGAAGGAA	0.303																																																	1	Substitution - Nonsense(1)	cervix(1)											65	66	66					6																	96988513		2202	4294	6496	SO:0001587	stop_gained	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1261C>T	6.37:g.96988513C>T	ENSP00000358283:p.Arg421*		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Nonsense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.R421*	ENST00000369278.4	37	c.1261	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.696643	0.97772	.	.	ENSG00000014123	ENST00000369278	.	.	.	6.16	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.6874	8.2875	0.31937	0.3798:0.5485:0.0:0.0717	.	.	.	.	X	421	.	ENSP00000358283:R421X	R	+	1	2	KIAA0776	97095234	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.001000	0.49488	0.903000	0.36546	0.650000	0.86243	CGA	UFL1	-	NULL		0.303	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	C	NM_015323		96988513	1	no_errors	ENST00000369278	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	96988513	C	T	96988513	4	4	59	1	0	0	0	0	0	1	0	0	8213	760	27	2	1303	2	KIAA0776	6	96988513	Nonsense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	6591856	96988513	74126554	46	9165										
BEND3	57673	genome.wustl.edu	37	chr6	107391958	107391958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	acacgtttagcaggtcccccGagggaggattcttcttctcc	10	13	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:107391958G>A	ENST00000369042.1	-	4	627	c.437C>T	c.(436-438)tCg>tTg	p.S146L	BEND3_ENST00000429433.2_Missense_Mutation_p.S146L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	146								p.S146L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGGTCCCCCGAGGGAGGATT	0.572																																																	1	Substitution - Missense(1)	cervix(1)											121	119	120					6																	107391958		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.437C>T	6.37:g.107391958G>A	ENSP00000358038:p.Ser146Leu		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.S146L	ENST00000369042.1	37	c.437	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096648	0.20552	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	4.87	0.423	0.16463	.	1.258120	0.05442	N	0.547764	T	0.10508	0.0257	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.32613	-0.9900	9	0.54805	T	0.06	-11.8967	7.0338	0.24983	0.2843:0.178:0.5377:0.0	.	146	Q5T5X7	BEND3_HUMAN	L	146	.	ENSP00000358038:S146L	S	-	2	0	BEND3	107498651	0.001000	0.12720	0.000000	0.03702	0.533000	0.34776	1.236000	0.32683	0.180000	0.19960	0.455000	0.32223	TCG	BEND3	-	NULL		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	G	NM_020913		107391958	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	0.000	A	A	107391958	G	A	107391958	3	1	59	1	0	0	0	0	1	0	0	0	1400	1059	37	1	2053	1	BEND3	6	107391958	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	10403445	107391958	63723109	47	9166										
COL28A1	340267	genome.wustl.edu	37	chr7	7472140	7472140	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cccactccacgtaaacccatCggcccagggggtcctggtaa	10	16	0	0	rs115295026	byFrequency	TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:7472140C>T	ENST00000399429.3	-	25	2102	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	654					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P654P(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTAAACCCATCGGCCCAGGGG	0.512																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											95	93	94					7																	7472140		1935	4130	6065	SO:0001819	synonymous_variant	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1962G>A	7.37:g.7472140C>T			A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.P654	ENST00000399429.3	37	c.1962	CCDS43553.1	7																																																																																			COL28A1	-	NULL		0.512	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	C	NM_001037763		7472140	-1	no_errors	ENST00000399429	ensembl	human	known	70_37	silent	SNP	0.982	T	T	7472140	C	T	7472140	2	4	59	1	0	0	0	0	0	0	0	1	3691	871	31	1		1	COL28A1	7	7472140	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		7472140	151666523	48	9167										
DNAH11	8701	genome.wustl.edu	37	chr7	21603847	21603847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaactttacctgagacctctGaggagacacatccagtgtct	9	11	2	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:21603847G>A	ENST00000409508.3	+	6	1057	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	DNAH11_ENST00000328843.6_Silent_p.L342L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	342	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L342L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGACCTCTGAGGAGACACA	0.423									Kartagener syndrome																																								1	Substitution - coding silent(1)	cervix(1)											92	89	90					7																	21603847		1845	4087	5932	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1026G>A	7.37:g.21603847G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L342	ENST00000409508.3	37	c.1026		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-1		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21603847	1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	0.971	A	A	21603847	G	A	21603847	2	1	59	1	0	0	0	0	0	0	0	1	4609	1277	45	1		1	DNAH11	7	21603847	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	14131707	21603847	137534816	49	9168										
DNAH11	8701	genome.wustl.edu	37	chr7	21827105	21827105	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gtggtgaatgaacactatttGaaagacccagagtttaatcc	9	7	0	5			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:21827105G>A	ENST00000409508.3	+	60	9859	c.9828G>A	c.(9826-9828)ttG>ttA	p.L3276L	DNAH11_ENST00000328843.6_Silent_p.L3283L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3283	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3283L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACACTATTTGAAAGACCCAG	0.378									Kartagener syndrome																																								1	Substitution - coding silent(1)	cervix(1)											91	87	88					7																	21827105		1845	4100	5945	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9828G>A	7.37:g.21827105G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3283	ENST00000409508.3	37	c.9849		7																																																																																			DNAH11	-	NULL		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21827105	1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21827105	G	A	21827105	2	1	59	1	0	0	0	0	0	0	0	1	4609	1281	45	1		1	DNAH11	7	21827105	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	223258	21827105	137311558	50	9169										
SBDS	51119	genome.wustl.edu	37	chr7	66453398	66453398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cttcttctacatctttcagaTtgagtacttccaaagaacct	4	11	4	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:66453398T>C	ENST00000246868.2	-	5	896	c.713A>G	c.(712-714)aAt>aGt	p.N238S		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	238					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.N238S(1)		cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ATCTTTCAGATTGAGTACTTC	0.393			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	1	Substitution - Missense(1)	cervix(1)											166	150	155					7																	66453398		2203	4300	6503	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.713A>G	7.37:g.66453398T>C	ENSP00000246868:p.Asn238Ser		A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.N238S	ENST00000246868.2	37	c.713	CCDS5537.1	7	.	.	.	.	.	.	.	.	.	.	T	2.385	-0.341180	0.05243	.	.	ENSG00000126524	ENST00000246868	D	0.98207	-4.79	5.05	-3.22	0.05125	.	0.158291	0.64402	N	0.000002	D	0.88716	0.6512	N	0.02213	-0.635	0.22693	N	0.998847	B	0.02656	0.0	B	0.01281	0.0	D	0.83788	0.0229	10	0.02654	T	1	-13.2544	9.3887	0.38359	0.0:0.6465:0.1369:0.2167	.	238	Q9Y3A5	SBDS_HUMAN	S	238	ENSP00000246868:N238S	ENSP00000246868:N238S	N	-	2	0	SBDS	66090833	0.042000	0.20092	0.075000	0.20258	0.935000	0.57460	0.357000	0.20199	-0.132000	0.11557	-0.410000	0.06199	AAT	SBDS	-	NULL		0.393	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	T	NM_016038		66453398	-1	no_errors	ENST00000246868	ensembl	human	known	70_37	missense	SNP	0.396	C	C	66453398	T	C	66453398	3	2	59	1	0	0	0	0	1	0	0	0	13887	1493	52	5	43	5	SBDS	7	66453398	Missense_Mutation	SNP	T	TCGA-DS-A0VK-01A-21D-A10S-08	44626293	66453398	92685265	51	9170										
COL1A2	1278	genome.wustl.edu	37	chr7	94057017	94057017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	actttggttacgatggagacTtctacagggctgaccagcct	11	10	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:94057017T>C	ENST00000297268.6	+	49	3817	c.3346T>C	c.(3346-3348)Ttc>Ctc	p.F1116L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1116					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.F1116L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGATGGAGACTTCTACAGGGC	0.542										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	cervix(1)											98	99	99					7																	94057017		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3346T>C	7.37:g.94057017T>C	ENSP00000297268:p.Phe1116Leu		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.F1116L	ENST00000297268.6	37	c.3346	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112852	0.37242	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.88586	-2.4	5.71	5.71	0.89125	.	0.172652	0.52532	D	0.000068	T	0.76169	0.3950	N	0.05280	-0.08	0.38248	D	0.941529	B	0.31077	0.307	B	0.27380	0.079	T	0.76369	-0.2984	10	0.11182	T	0.66	.	16.3019	0.82825	0.0:0.0:0.0:1.0	.	1116	P08123	CO1A2_HUMAN	L	1116;1117	ENSP00000297268:F1116L	ENSP00000297268:F1116L	F	+	1	0	COL1A2	93894953	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.919000	0.70005	2.317000	0.78254	0.459000	0.35465	TTC	COL1A2	-	NULL		0.542	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	T	NM_000089		94057017	1	no_errors	ENST00000297268	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94057017	T	C	94057017	3	2	59	1	0	0	0	0	1	0	0	0	3683	1609	56	5	3540	5	COL1A2	7	94057017	Missense_Mutation	SNP	T	TCGA-DS-A0VK-01A-21D-A10S-08	27603619	94057017	65081646	52	9171										
PSMC2	5701	genome.wustl.edu	37	chr7	103008390	103008390	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaggctggtatgtttgccatCagagcacggcgaaaaattgc	13	8	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:103008390C>G	ENST00000435765.1	+	13	1602	c.1191C>G	c.(1189-1191)atC>atG	p.I397M	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.I397M|PSMC2_ENST00000544811.1_Missense_Mutation_p.I260M	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	397					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I397M(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGTTTGCCATCAGAGCACGGC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											94	91	92					7																	103008390		2203	4300	6503	SO:0001583	missense	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1191C>G	7.37:g.103008390C>G	ENSP00000391211:p.Ile397Met		A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.I397M	ENST00000435765.1	37	c.1191	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506210	0.64410	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94966	-3.57;-3.57;-3.57	5.46	3.55	0.40652	.	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	L	0.53671	1.685	0.80722	D	1	D	0.61697	0.99	D	0.85130	0.997	D	0.94295	0.7532	10	0.87932	D	0	-13.6512	6.4301	0.21792	0.1477:0.703:0.0:0.1493	.	397	P35998	PRS7_HUMAN	M	397;397;260	ENSP00000391211:I397M;ENSP00000292644:I397M;ENSP00000445546:I260M	ENSP00000292644:I397M	I	+	3	3	PSMC2	102795626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.137000	0.31479	1.321000	0.45227	0.644000	0.83932	ATC	PSMC2	-	tigrfam_26S_Psome_P45		0.423	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	HGNC	protein_coding	OTTHUMT00000347922.1	C	NM_002803		103008390	1	no_errors	ENST00000292644	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103008390	C	G	103008390	3	3	59	1	0	0	0	0	1	0	0	0	12713	816	29	1	1237	1	PSMC2	7	103008390	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	8951373	103008390	56130273	53	9172										
CHRM2	1129	genome.wustl.edu	37	chr7	136700956	136700956	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctttgcaatgccaccttcaaGaagacctttaaacaccttct	4	13	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:136700956G>A	ENST00000445907.2	+	3	1872	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.K448K|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.K448K|CHRM2_ENST00000397608.3_Silent_p.K448K|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Silent_p.K448K|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Silent_p.K448K|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	448					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.K448K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCACCTTCAAGAAGACCTTTA	0.433																																																	1	Substitution - coding silent(1)	cervix(1)											188	167	174					7																	136700956		2203	4300	6503	SO:0001819	synonymous_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1344G>A	7.37:g.136700956G>A			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.K448	ENST00000445907.2	37	c.1344	CCDS5843.1	7																																																																																			CHRM2	-	prints_Musac_rcpt,prints_GPCR_Rhodpsn		0.433	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700956	1	no_errors	ENST00000320658	ensembl	human	known	70_37	silent	SNP	1.000	A	A	136700956	G	A	136700956	2	1	59	1	0	0	0	0	0	0	0	1	3382	933	33	1		1	CHRM2	7	136700956	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	33692566	136700956	22437707	54	9173										
RP1L1	94137	genome.wustl.edu	37	chr8	10466630	10466630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tttcttcctcacgcaggcctCgcagggacagaactcctccc	8	17	2	1	rs369627530		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:10466630C>T	ENST00000382483.3	-	4	5201	c.4978G>A	c.(4978-4980)Gag>Aag	p.E1660K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1740					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1660K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGCAGGCCTCGCAGGGACAG	0.647																																																	1	Substitution - Missense(1)	cervix(1)						C	LYS/GLU	1,4061		0,1,2030	51	56	54		4978	2.9	0	8		54	0,8360		0,0,4180	no	missense	RP1L1	NM_178857.5	56	0,1,6210	TT,TC,CC		0.0,0.0246,0.0081	probably-damaging	1660/2401	10466630	1,12421	2031	4180	6211	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4978G>A	8.37:g.10466630C>T	ENSP00000371923:p.Glu1660Lys		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1660K	ENST00000382483.3	37	c.4978	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823416	0.71143	2.46E-4	0.0	ENSG00000183638	ENST00000382483	T	0.07908	3.15	4.78	2.94	0.34122	.	0.000000	0.33753	U	0.004588	T	0.05502	0.0145	L	0.32530	0.975	0.21290	N	0.999737	D	0.54047	0.964	B	0.35607	0.206	T	0.33701	-0.9858	10	0.59425	D	0.04	-8.8266	8.512	0.33224	0.1514:0.7664:0.0:0.0823	.	1660	A6NKC6	.	K	1660	ENSP00000371923:E1660K	ENSP00000371923:E1660K	E	-	1	0	RP1L1	10504040	0.933000	0.31639	0.011000	0.14972	0.689000	0.40095	2.108000	0.41854	0.588000	0.29660	0.561000	0.74099	GAG	RP1L1	-	NULL		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	C			10466630	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.502	T	T	10466630	C	T	10466630	3	4	59	1	0	0	0	0	1	0	0	0	13563	893	31	1	2228	1	RP1L1	8	10466630	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		10466630	135897392	55	9174										
PRKDC	5591	genome.wustl.edu	37	chr8	48830905	48830905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aaatcctttctgggcagcccGagaaagagctgacacttccc	9	13	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:48830905G>A	ENST00000314191.2	-	22	2514	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R820W	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	820					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.R820W(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGGGCAGCCCGAGAAAGAGCT	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												2	Substitution - Missense(2)	cervix(2)											62	57	59					8																	48830905		1830	4069	5899	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2458C>T	8.37:g.48830905G>A	ENSP00000313420:p.Arg820Trp		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R820W	ENST00000314191.2	37	c.2458		8	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972999	0.74246	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02974	4.16;4.09	5.83	4.0	0.46444	Armadillo-type fold (1);	0.502393	0.21394	N	0.075248	T	0.09024	0.0223	.	.	.	0.36223	D	0.852149	D;D;D	0.69078	0.997;0.994;0.994	P;P;P	0.56474	0.799;0.724;0.724	T	0.08597	-1.0714	9	0.66056	D	0.02	.	9.3821	0.38320	0.0723:0.0:0.7845:0.1432	.	820;820;820	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	W	820	ENSP00000313420:R820W;ENSP00000345182:R820W	ENSP00000313420:R820W	R	-	1	2	PRKDC	48993458	0.997000	0.39634	0.997000	0.53966	0.992000	0.81027	3.608000	0.54109	0.767000	0.33267	0.655000	0.94253	CGG	PRKDC	-	superfamily_ARM-type_fold		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48830905	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.955	A	A	48830905	G	A	48830905	3	1	59	1	0	0	0	0	1	0	0	0	12548	1057	37	1	10187	1	PRKDC	8	48830905	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	38364275	48830905	97533117	56	9175										
ARMC1	55156	genome.wustl.edu	37	chr8	66539550	66539550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	acgatggctcttctgtttaaCggatctgctgctagatcccg	10	11	3	1	rs140241141		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:66539550C>T	ENST00000276569.3	-	2	328	c.84G>A	c.(82-84)ccG>ccA	p.P28P	ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	28					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.P28P(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTCTGTTTAACGGATCTGCTG	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		18425	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)						C		0,4406		0,0,2203	161	151	154		84	-11.2	0.3	8	dbSNP_134	154	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ARMC1	NM_018120.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		28/283	66539550	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55156			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.84G>A	8.37:g.66539550C>T			B4E2W7|Q9H018|Q9H820	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.P28	ENST00000276569.3	37	c.84	CCDS6181.1	8																																																																																			ARMC1	-	pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd		0.493	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	C	NM_018120		66539550	-1	no_errors	ENST00000276569	ensembl	human	known	70_37	silent	SNP	0.015	T	T	66539550	C	T	66539550	2	4	59	1	0	0	0	0	0	0	0	1	950	523	19	2		2	ARMC1	8	66539550	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	17708645	66539550	79824472	57	9176										
PLEC	5339	genome.wustl.edu	37	chr8	145024409	145024409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggtccgctgggtggtagcagGcaccacaggggtctcaggtg	18	10	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:145024409G>A	ENST00000322810.4	-	1	635	c.466C>T	c.(466-468)Cct>Tct	p.P156S	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	156	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.P156S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGTAGCAGGCACCACAGGG	0.692																																																	1	Substitution - Missense(1)	cervix(1)											14	19	17					8																	145024409		1914	4114	6028	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.466C>T	8.37:g.145024409G>A	ENSP00000323856:p.Pro156Ser		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P156S	ENST00000322810.4	37	c.466	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	g	11.75	1.732261	0.30684	.	.	ENSG00000178209	ENST00000322810	T	0.75050	-0.9	4.58	2.67	0.31697	.	1.091830	0.07213	N	0.859594	T	0.54679	0.1873	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	10	0.36615	T	0.2	.	5.5797	0.17243	0.1163:0.203:0.6807:0.0	.	156	Q15149	PLEC_HUMAN	S	156	ENSP00000323856:P156S	ENSP00000323856:P156S	P	-	1	0	PLEC	145096397	0.003000	0.15002	0.828000	0.32881	0.897000	0.52465	-0.014000	0.12656	0.300000	0.22699	0.563000	0.77884	CCT	PLEC	-	NULL		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024409	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.959	A	A	145024409	G	A	145024409	3	1	59	1	0	0	0	0	1	0	0	0	12076	1203	42	4	14096	4	PLEC	8	145024409	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	78484859	145024409	1339613	58	9177										
KIAA2026	158358	genome.wustl.edu	37	chr9	5923062	5923062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggaaatgatggctctgtatgCtttgattcactgaaacagtc	10	7	2	3	rs533069462		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:5923062C>T	ENST00000399933.3	-	8	2933	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	KIAA2026_ENST00000381461.2_Silent_p.K948K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	978								p.K153K(1)|p.K978K(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCTCTGTATGCTTTGATTCAC	0.423													C|||	1	0.000199681	0	0	5008	,	,		21782	0		0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	cervix(2)											170	158	162					9																	5923062		1914	4151	6065	SO:0001819	synonymous_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2934G>A	9.37:g.5923062C>T			A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.K978	ENST00000399933.3	37	c.2934		9																																																																																			KIAA2026	-	NULL		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		5923062	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	silent	SNP	0.683	T	T	5923062	C	T	5923062	2	4	59	1	0	0	0	0	0	0	0	1	8290	796	28	4		4	KIAA2026	9	5923062	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		5923062	135290369	59	9178										
UHRF2	115426	genome.wustl.edu	37	chr9	6434113	6434113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	attggacagtgtaccctctaCgtctaattcagactgtgttg	9	9	3	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:6434113C>T	ENST00000276893.5	+	3	752	c.584C>T	c.(583-585)aCg>aTg	p.T195M	RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	195	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T195M(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GTACCCTCTACGTCTAATTCA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											106	93	97					9																	6434113		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.584C>T	9.37:g.6434113C>T	ENSP00000276893:p.Thr195Met		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.T195M	ENST00000276893.5	37	c.584	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243398	0.79912	.	.	ENSG00000147854	ENST00000276893	T	0.23348	1.91	5.54	5.54	0.83059	Domain of unknown function DUF3590 (1);	0.052838	0.85682	D	0.000000	T	0.47451	0.1446	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.32214	-0.9915	10	0.52906	T	0.07	-0.1811	19.5469	0.95302	0.0:1.0:0.0:0.0	.	195	Q96PU4	UHRF2_HUMAN	M	195	ENSP00000276893:T195M	ENSP00000276893:T195M	T	+	2	0	UHRF2	6424113	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.270000	0.72563	2.621000	0.88768	0.586000	0.80456	ACG	UHRF2	-	pfam_DUF3590		0.353	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	C	NM_152306		6434113	1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6434113	C	T	6434113	3	4	59	1	0	0	0	0	1	0	0	0	17001	536	19	2	594	2	UHRF2	9	6434113	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	511051	6434113	134779318	60	9179										
TEK	7010	genome.wustl.edu	37	chr9	27169490	27169490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	actaggttccttcatccattCagtgccccggcatgaagtac	8	13	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:27169490C>T	ENST00000380036.4	+	4	933	c.491C>T	c.(490-492)tCa>tTa	p.S164L	TEK_ENST00000519097.1_Missense_Mutation_p.S60L|TEK_ENST00000406359.4_Missense_Mutation_p.S164L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	164					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S164L(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTCATCCATTCAGTGCCCCGG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											158	157	158					9																	27169490		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.491C>T	9.37:g.27169490C>T	ENSP00000369375:p.Ser164Leu		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S164L	ENST00000380036.4	37	c.491	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602247	0.46423	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359	T;T;T	0.74315	-0.8;-0.79;-0.83	5.48	4.57	0.56435	Immunoglobulin-like fold (1);	0.371275	0.19610	N	0.110166	T	0.62974	0.2472	N	0.14661	0.345	0.47214	D	0.999351	B;P;B;B;P	0.52061	0.005;0.896;0.091;0.005;0.95	B;P;B;B;B	0.46076	0.003;0.503;0.019;0.004;0.318	T	0.66044	-0.6021	10	0.46703	T	0.11	.	13.7067	0.62644	0.0:0.9247:0.0:0.0753	.	60;197;164;164;164	E7EWI2;Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;.;TIE2_HUMAN	L	60;164;164;164	ENSP00000430686:S60L;ENSP00000369375:S164L;ENSP00000383977:S164L	ENSP00000343716:S164L	S	+	2	0	TEK	27159490	0.976000	0.34144	0.990000	0.47175	0.478000	0.33099	3.770000	0.55310	2.739000	0.93911	0.561000	0.74099	TCA	TEK	-	NULL		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	C			27169490	1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	0.994	T	T	27169490	C	T	27169490	3	4	59	1	0	0	0	0	1	0	0	0	15781	838	29	1	505	1	TEK	9	27169490	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	20735377	27169490	114043941	61	9180										
TPM2	7169	genome.wustl.edu	37	chr9	35685308	35685308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cctccgagcgctccagctctCcttccaggatcaccagcttc	7	19	2	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:35685308C>T	ENST00000360958.2	-	5	625	c.521G>A	c.(520-522)gGa>gAa	p.G174E	TPM2_ENST00000378292.3_Missense_Mutation_p.G174E|TPM2_ENST00000378300.5_Missense_Mutation_p.G174E|TPM2_ENST00000329305.2_Missense_Mutation_p.G174E	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	174					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.G174E(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCAGCTCTCCTTCCAGGAT	0.617																																																	2	Substitution - Missense(2)	cervix(2)											50	50	50					9																	35685308		2203	4300	6503	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.521G>A	9.37:g.35685308C>T	ENSP00000354219:p.Gly174Glu		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.G174E	ENST00000360958.2	37	c.521	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035431	0.75617	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;D;D;D	0.97186	1.62;-4.28;-4.28;-4.28	5.24	5.24	0.73138	.	.	.	.	.	D	0.98454	0.9485	M	0.81341	2.54	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.972;1.0;0.886;0.769	D;D;D;P;P	0.91635	0.999;0.955;0.999;0.626;0.766	D	0.99153	1.0859	9	0.66056	D	0.02	.	19.0185	0.92903	0.0:1.0:0.0:0.0	.	174;174;174;174;174	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	E	174	ENSP00000367550:G174E;ENSP00000367542:G174E;ENSP00000367541:G174E;ENSP00000354219:G174E	ENSP00000367541:G174E	G	-	2	0	TPM2	35675308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.647000	0.83462	2.723000	0.93209	0.655000	0.94253	GGA	TPM2	-	pfam_Tropomyosin		0.617	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	C	NM_003289		35685308	-1	no_errors	ENST00000378300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35685308	C	T	35685308	3	4	59	1	0	0	0	0	1	0	0	0	16437	855	30	1	520	1	TPM2	9	35685308	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	8515818	35685308	105528123	62	9181										
HSDL2	84263	genome.wustl.edu	37	chr9	115221855	115221855	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tgactttgtaaaaatgttttCaggtgagttttccagtttat	8	4	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:115221855C>T	ENST00000398805.3	+	10	1369	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	HSDL2_ENST00000539114.1_Missense_Mutation_p.S176L|HSDL2_ENST00000262542.7_Missense_Mutation_p.S261L|HSDL2_ENST00000398803.1_Missense_Mutation_p.S308L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	381	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.S381L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AAAATGTTTTCAGGTGAGTTT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											201	189	193					9																	115221855		1896	4114	6010	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.1142C>T	9.37:g.115221855C>T	ENSP00000381785:p.Ser381Leu		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.S381L	ENST00000398805.3	37	c.1142	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968130	0.92855	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.97	5.97	0.96955	SCP2 sterol-binding domain (2);	0.243172	0.41823	D	0.000802	T	0.20981	0.0505	L	0.33668	1.02	0.40992	D	0.984869	P;P;P	0.43231	0.617;0.801;0.759	B;B;B	0.41374	0.173;0.355;0.338	T	0.01480	-1.1344	10	0.22109	T	0.4	.	20.0189	0.97489	0.0:1.0:0.0:0.0	.	308;308;381	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	L	381;308;261;176	ENSP00000381785:S381L;ENSP00000381783:S308L;ENSP00000262542:S261L;ENSP00000442278:S176L	ENSP00000262542:S261L	S	+	2	0	HSDL2	114261676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.440000	0.59975	2.828000	0.97474	0.655000	0.94253	TCA	HSDL2	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom		0.368	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	C	NM_032303		115221855	1	no_errors	ENST00000398805	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115221855	C	T	115221855	3	4	59	1	0	0	0	0	1	0	0	0	7414	838	29	1	1180	1	HSDL2	9	115221855	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	79536547	115221855	25991576	63	9182										
DAB2IP	153090	genome.wustl.edu	37	chr9	124522191	124522191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gccggcgtgtggagcacatcCtgaagctgtgggtgatcgag	17	9	0	2	rs267602115		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:124522191C>T	ENST00000408936.3	+	6	825	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	DAB2IP_ENST00000259371.2_Silent_p.L187L|DAB2IP_ENST00000309989.1_Silent_p.L91L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	215	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.L91L(1)|p.L187L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGCACATCCTGAAGCTGTG	0.632																																																	2	Substitution - coding silent(2)	cervix(2)											99	87	91					9																	124522191		2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.643C>T	9.37:g.124522191C>T			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L215	ENST00000408936.3	37	c.643		9																																																																																			DAB2IP	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	C	NM_032552		124522191	1	no_errors	ENST00000408936	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124522191	C	T	124522191	2	4	59	1	0	0	0	0	0	0	0	1	4224	680	24	4		4	DAB2IP	9	124522191	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	9300336	124522191	16691240	64	9183										
STRBP	55342	genome.wustl.edu	37	chr9	125923338	125923338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agtccggaggatctttcatcGaaacattttctaacagtaaa	7	8	3	0	rs374006039		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:125923338G>A	ENST00000348403.5	-	7	974	c.545C>T	c.(544-546)tCg>tTg	p.S182L	STRBP_ENST00000447404.2_Missense_Mutation_p.S182L|STRBP_ENST00000360998.3_Missense_Mutation_p.S168L	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	182	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.S182L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATCTTTCATCGAAACATTTTC	0.363																																																	1	Substitution - Missense(1)	cervix(1)						G	LEU/SER,LEU/SER	1,4405		0,1,2202	33	33	33		503,545	2	0.9	9		33	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	STRBP	NM_001171137.1,NM_018387.4	145,145	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	168/659,182/673	125923338	3,13003	2203	4300	6503	SO:0001583	missense	55342			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.545C>T	9.37:g.125923338G>A	ENSP00000321347:p.Ser182Leu		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.S182L	ENST00000348403.5	37	c.545	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473080	0.43942	2.27E-4	2.33E-4	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.46819	0.86;0.86;0.86	5.87	2.03	0.26663	DZF (2);	0.806227	0.11431	N	0.564822	T	0.44030	0.1274	L	0.54323	1.7	0.22457	N	0.999088	B	0.24132	0.098	B	0.27715	0.082	T	0.38265	-0.9669	10	0.49607	T	0.09	8.8905	10.0257	0.42070	0.2663:0.0:0.7337:0.0	.	182	Q96SI9	STRBP_HUMAN	L	182;182;168	ENSP00000415968:S182L;ENSP00000321347:S182L;ENSP00000354271:S168L	ENSP00000321347:S182L	S	-	2	0	STRBP	124963159	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	5.186000	0.65082	0.110000	0.17919	0.655000	0.94253	TCG	STRBP	-	pfam_DZF,smart_DZF		0.363	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	G			125923338	-1	no_errors	ENST00000348403	ensembl	human	known	70_37	missense	SNP	0.998	A	A	125923338	G	A	125923338	3	1	59	1	0	0	0	0	1	0	0	0	15357	1059	37	1	1525	1	STRBP	9	125923338	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	1401147	125923338	15290093	65	9184										
NOTCH1	4851	genome.wustl.edu	37	chr9	139399781	139399781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cttgcactggccttccgcacGctggcagtcaaagccgtcga	11	15	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:139399781G>A	ENST00000277541.6	-	25	4642	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1523					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTTCCGCACGCTGGCAGTCA	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													18	21	20					9																	139399781		2121	4241	6362	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4567C>T	9.37:g.139399781G>A	ENSP00000277541:p.Arg1523Cys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.R1523C	ENST00000277541.6	37	c.4567	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958496	0.34565	.	.	ENSG00000148400	ENST00000277541	T	0.64803	-0.12	4.08	-1.36	0.09085	Notch domain (2);	0.696284	0.13836	U	0.359348	T	0.51652	0.1687	L	0.47716	1.5	0.42433	D	0.992689	P	0.50272	0.933	P	0.45232	0.474	T	0.51148	-0.8742	10	0.48119	T	0.1	.	5.9201	0.19078	0.0:0.3615:0.249:0.3894	.	1523	P46531	NOTC1_HUMAN	C	1523	ENSP00000277541:R1523C	ENSP00000277541:R1523C	R	-	1	0	NOTCH1	138519602	0.965000	0.33210	0.145000	0.22337	0.406000	0.30931	1.698000	0.37794	-0.154000	0.11118	0.579000	0.79373	CGT	NOTCH1	-	smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139399781	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.353	A	A	139399781	G	A	139399781	3	1	59	1	0	0	0	0	1	0	0	0	10571	1087	38	2	3140	2	NOTCH1	9	139399781	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	13476443	139399781	1813650	66	9185										
SEPHS1	22929	genome.wustl.edu	37	chr10	13386938	13386938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	actttccgggttaaaggactCccgcgtagacatggttcttg	11	10	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:13386938C>T	ENST00000327347.5	-	2	388	c.13G>A	c.(13-15)Gag>Aag	p.E5K	SEPHS1_ENST00000378614.4_Missense_Mutation_p.E5K|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000545675.1_Missense_Mutation_p.E5K	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	5					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.E5K(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TTAAAGGACTCCCGCGTAGAC	0.562																																																	2	Substitution - Missense(2)	cervix(2)											93	97	96					10																	13386938		2203	4300	6503	SO:0001583	missense	22929			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.13G>A	10.37:g.13386938C>T	ENSP00000367893:p.Glu5Lys		B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.E5K	ENST00000327347.5	37	c.13	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626554	0.28978	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000413411	T;T;T	0.41758	1.02;1.04;0.99	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	N	0.16790	0.44	0.58432	D	0.999999	B;B;B;B	0.17268	0.021;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.001;0.001	T	0.07462	-1.0771	10	0.09338	T	0.73	-13.093	14.7956	0.69876	0.0:1.0:0.0:0.0	.	5;5;5;5	Q5T5U9;P49903;D6PSQ9;D3DRS9	.;SPS1_HUMAN;.;.	K	5	ENSP00000367893:E5K;ENSP00000367877:E5K;ENSP00000441119:E5K	ENSP00000367887:E5K	E	-	1	0	SEPHS1	13426944	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.828000	0.62730	2.148000	0.66965	0.313000	0.20887	GAG	SEPHS1	-	NULL		0.562	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	C	NM_012247		13386938	-1	no_errors	ENST00000327347	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13386938	C	T	13386938	3	4	59	1	0	0	0	0	1	0	0	0	14084	864	30	1	1197	1	SEPHS1	10	13386938	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		13386938	122147809	67	9186										
DCLRE1C	64421	genome.wustl.edu	37	chr10	14976735	14976735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tggtaaaatcttggatcacaGaacgtagtatccaaatatac	7	7	2	1	rs61749165		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:14976735G>A	ENST00000378278.2	-	7	541	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DCLRE1C_ENST00000378258.1_Silent_p.F48F|DCLRE1C_ENST00000357717.2_Silent_p.F53F|DCLRE1C_ENST00000378246.2_Silent_p.F53F|DCLRE1C_ENST00000396817.2_Silent_p.F48F|DCLRE1C_ENST00000378254.1_Silent_p.F48F|DCLRE1C_ENST00000378249.1_Silent_p.F53F|DCLRE1C_ENST00000378255.1_Silent_p.F48F|DCLRE1C_ENST00000378289.4_Silent_p.F168F|DCLRE1C_ENST00000453695.2_Silent_p.F48F			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	168					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.F53F(1)|p.F168F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTGGATCACAGAACGTAGTAT	0.368								Non-homologous end-joining																																									2	Substitution - coding silent(2)	cervix(2)											135	130	131					10																	14976735		2203	4300	6503	SO:0001819	synonymous_variant	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.504C>T	10.37:g.14976735G>A			D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	pfam_DRMBL	p.F168	ENST00000378278.2	37	c.504	CCDS31149.1	10																																																																																			DCLRE1C	-	NULL		0.368	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	G	NM_022487		14976735	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14976735	G	A	14976735	2	1	59	1	0	0	0	0	0	0	0	1	4301	933	33	1		1	DCLRE1C	10	14976735	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	1589797	14976735	120558012	68	9187										
MRC1	4360	genome.wustl.edu	37	chr10	17927340	17927340	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tggactgggctgaatgatgtCaattcagaacacacgttcct	10	9	2	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:17927340C>G	ENST00000331429.2	+	22	3145	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAATGATGTCAATTCAGAAC	0.418																																																	0													3	3	3					10																	17927340		1563	3573	5136	SO:0001819	synonymous_variant	101060092																														ENST00000331429.2:c.3042C>G	10.37:g.17927340C>G				Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.V1014	ENST00000331429.2	37	c.3042		10																																																																																			MRC1L1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.418	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	LOC101060092	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	C			17927340	1	no_errors	ENST00000331429	ensembl	human	novel	70_37	silent	SNP	0.974	G	G	17927340	C	G	17927340	2	3	59	1	0	0	0	0	0	0	0	1	9779	813	29	1		1	MRC1	10	17927340	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	2950605	17927340	117607407	69	9188										
CCNY	219771	genome.wustl.edu	37	chr10	35818947	35818947	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	atatttttgatgaaaatcttCaccctctttcggtaatctcc	4	10	4	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:35818947C>T	ENST00000374704.4	+	6	628	c.448C>T	c.(448-450)Cac>Tac	p.H150Y	CCNY_ENST00000265375.9_Missense_Mutation_p.H96Y|CCNY_ENST00000339497.5_Missense_Mutation_p.H125Y|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.H96Y	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	150	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.H96Y(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGAAAATCTTCACCCTCTTTC	0.363																																																	1	Substitution - Missense(1)	cervix(1)											173	173	173					10																	35818947		2203	4300	6503	SO:0001583	missense	219771			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.448C>T	10.37:g.35818947C>T	ENSP00000363836:p.His150Tyr		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	p.H150Y	ENST00000374704.4	37	c.448	CCDS7189.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.120259	0.94385	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.33865	1.41;1.39;1.46;1.41	5.91	5.91	0.95273	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	L	0.59436	1.845	0.80722	D	1	P;P;D	0.89917	0.732;0.917;1.0	P;P;D	0.97110	0.521;0.54;1.0	T	0.52823	-0.8524	10	0.42905	T	0.14	-0.1576	20.2896	0.98541	0.0:1.0:0.0:0.0	.	17;125;150	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	Y	96;150;150;125;96;17	ENSP00000363838:H96Y;ENSP00000363836:H150Y;ENSP00000344275:H125Y;ENSP00000265375:H96Y	ENSP00000265375:H96Y	H	+	1	0	CCNY	35858953	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.484000	0.81180	2.794000	0.96219	0.655000	0.94253	CAC	CCNY	-	superfamily_Cyclin-like,pirsf_Cyclin_Y		0.363	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNY	HGNC	protein_coding	OTTHUMT00000047568.2	C	NM_181698		35818947	1	no_errors	ENST00000374704	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35818947	C	T	35818947	3	4	59	1	0	0	0	0	1	0	0	0	2941	826	29	1	470	1	CCNY	10	35818947	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	17891607	35818947	99715800	70	9189										
HERC4	26091	genome.wustl.edu	37	chr10	69726539	69726539	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aatttatcatactgtataatCtgtcccattttctcatttac	2	9	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:69726539C>T	ENST00000395198.3	-	16	2074	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	HERC4_ENST00000412272.2_Silent_p.Q609Q|HERC4_ENST00000373700.4_Silent_p.Q609Q|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.Q499Q	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	609					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q609Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTGTATAATCTGTCCCATTT	0.299																																																	1	Substitution - coding silent(1)	cervix(1)											64	62	63					10																	69726539		2202	4295	6497	SO:0001819	synonymous_variant	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1827G>A	10.37:g.69726539C>T			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q609	ENST00000395198.3	37	c.1827	CCDS41533.1	10																																																																																			HERC4	-	NULL		0.299	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	C	NM_015601		69726539	-1	no_errors	ENST00000395198	ensembl	human	known	70_37	silent	SNP	0.999	T	T	69726539	C	T	69726539	2	4	59	1	0	0	0	0	0	0	0	1	7080	912	32	1		1	HERC4	10	69726539	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	33907592	69726539	65808208	71	9190										
KIAA1274	27143	genome.wustl.edu	37	chr10	72298040	72298040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctgcctcgggctgcagtaccCgctggcctttgccctcagtt	11	16	1	0	rs368916968		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:72298040C>T	ENST00000263563.6	+	12	1596	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	443						cytosol (GO:0005829)		p.P443L(1)									CTGCAGTACCCGCTGGCCTTT	0.647																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/PRO	0,4406		0,0,2203	53	45	48		1328	2.5	1	10		48	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIAA1274	NM_014431.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	443/857	72298040	2,13004	2203	4300	6503	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1328C>T	10.37:g.72298040C>T	ENSP00000263563:p.Pro443Leu		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.P443L	ENST00000263563.6	37	c.1328	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	c	11.68	1.711019	0.30322	0.0	2.33E-4	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.31247	1.5	4.31	2.47	0.30058	.	0.232873	0.44483	N	0.000441	T	0.24774	0.0601	L	0.48362	1.52	0.58432	D	0.999999	B	0.23891	0.093	B	0.17979	0.02	T	0.04723	-1.0931	10	0.37606	T	0.19	-27.7841	10.0035	0.41942	0.0:0.8327:0.0:0.1673	.	443	Q9ULE6	PALD_HUMAN	L	443	ENSP00000263563:P443L	ENSP00000263563:P443L	P	+	2	0	KIAA1274	71968046	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	1.167000	0.31847	0.463000	0.27118	-0.254000	0.11334	CCG	PALD1	-	NULL		0.647	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	C	NM_014431		72298040	1	no_errors	ENST00000263563	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72298040	C	T	72298040	3	4	59	1	0	0	0	0	1	0	0	0	8240	652	23	2	1370	2	KIAA1274	10	72298040	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	2571501	72298040	63236707	72	9191										
PLAU	414236	genome.wustl.edu	37	chr10	75672700	75672700	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agataagtcaaaaacctgctAtgaggggaatggtcactttt	10	6	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:75672700A>T	ENST00000409178.1	-	3	301				PLAU_ENST00000446342.1_Missense_Mutation_p.Y54F|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.Y35F|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.Y71F	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.Y71F(1)		endometrium(1)	1	Prostate(51;0.0112)					AAAACCTGCTATGAGGGGAAT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											56	54	54					10																	75672700		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+100T>A	10.37:g.75672700A>T			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Y71F	ENST00000409178.1	37	c.212	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303567	0.40795	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.64085	-0.08;-0.08;-0.08	5.78	4.6	0.57074	Kringle (5);Kringle-like fold (1);	0.265833	0.39544	N	0.001330	T	0.56337	0.1978	L	0.49350	1.555	0.47778	D	0.999511	B;B;B;B	0.26512	0.018;0.01;0.074;0.151	B;B;B;B	0.33799	0.03;0.026;0.067;0.17	T	0.53570	-0.8420	10	0.29301	T	0.29	.	10.0269	0.42076	0.8316:0.1684:0.0:0.0	.	54;35;71;71	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	F	54;71;35;35	ENSP00000388474:Y54F;ENSP00000361850:Y71F;ENSP00000361848:Y35F	ENSP00000361847:Y35F	Y	+	2	0	PLAU	75342706	0.568000	0.26635	0.926000	0.36857	0.636000	0.38137	0.966000	0.29331	2.205000	0.71048	0.528000	0.53228	TAT	PLAU	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.463	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	A	NM_001001791		75672700	1	no_errors	ENST00000372764	ensembl	human	known	70_37	missense	SNP	0.598	T	T	75672700	A	T	75672700	1	4	59	0	1	0	0	0	0	0	0	0	12046	449	16	5		5	PLAU	10	75672700	Intron	SNP	A	TCGA-DS-A0VK-01A-21D-A10S-08	3374660	75672700	59862047	73	9192										
ADRA2A	150	genome.wustl.edu	37	chr10	112839008	112839008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	acggccgtcgggtgctccgtGccacgcacgctcttcaaatt	11	15	2	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:112839008G>A	ENST00000280155.2	+	1	2219	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	403					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.V403V(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGTGCTCCGTGCCACGCACGC	0.582																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Substitution - coding silent(1)	cervix(1)											160	133	142					10																	112839008		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1254G>A	10.37:g.112839008G>A			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.V418	ENST00000280155.2	37	c.1254	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt		0.582	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	G	NM_000681		112839008	1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	A	A	112839008	G	A	112839008	2	1	59	1	0	0	0	0	0	0	0	1	337	1306	46	4		4	ADRA2A	10	112839008	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	37166308	112839008	22695739	74	9193										
EFEMP2	30008	genome.wustl.edu	37	chr11	65637669	65637669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aggagccaggcaggttcacgCagcggtgctggcagtagcgg	18	10	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:65637669C>T	ENST00000307998.6	-	6	760	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.C177Y	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	177	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.C177Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CAGGTTCACGCAGCGGTGCTG	0.667																																																	1	Substitution - Missense(1)	cervix(1)											47	51	50					11																	65637669		2201	4295	6496	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.530G>A	11.37:g.65637669C>T	ENSP00000309953:p.Cys177Tyr		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.C177Y	ENST00000307998.6	37	c.530	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	C	30	5.049780	0.93740	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.99445	-3.96;-3.19;-5.91;-4.52	5.36	5.36	0.76844	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000034	D	0.99809	0.9917	H	0.99740	4.74	0.80722	D	1	D;D	0.63046	0.992;0.971	D;P	0.74023	0.982;0.691	D	0.96651	0.9481	10	0.87932	D	0	.	16.9411	0.86218	0.0:1.0:0.0:0.0	.	177;177	E9PRU1;O95967	.;FBLN4_HUMAN	Y	177	ENSP00000434151:C177Y;ENSP00000309953:C177Y;ENSP00000435419:C177Y;ENSP00000435963:C177Y	ENSP00000309953:C177Y	C	-	2	0	EFEMP2	65394245	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	5.789000	0.69029	2.674000	0.91012	0.561000	0.74099	TGC	EFEMP2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin		0.667	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4	C	NM_016938		65637669	-1	no_errors	ENST00000307998	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65637669	C	T	65637669	3	4	59	1	0	0	0	0	1	0	0	0	4952	710	25	4	825	4	EFEMP2	11	65637669	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		65637669	69368847	75	9194										
PC	5091	genome.wustl.edu	37	chr11	66618223	66618223	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agtcatcccagacatggaatCagctgccacatccaccacat	6	15	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:66618223C>T	ENST00000393958.2	-	17	2488	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.D799N|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.D799N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	799	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D799N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GACATGGAATCAGCTGCCACA	0.637																																																	1	Substitution - Missense(1)	cervix(1)											36	39	38					11																	66618223		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2395G>A	11.37:g.66618223C>T	ENSP00000377530:p.Asp799Asn		B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.D799N	ENST00000393958.2	37	c.2395	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314462	0.60524	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.97888	-4.59;-4.59;-4.59	4.41	4.41	0.53225	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.104805	0.64402	D	0.000007	D	0.98353	0.9453	M	0.78916	2.43	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.98186	1.0460	10	0.40728	T	0.16	-35.7824	14.5571	0.68109	0.0:1.0:0.0:0.0	.	799	P11498	PYC_HUMAN	N	799	ENSP00000377527:D799N;ENSP00000377530:D799N;ENSP00000377532:D799N	ENSP00000377527:D799N	D	-	1	0	PC	66374799	1.000000	0.71417	0.746000	0.31095	0.549000	0.35272	4.542000	0.60677	2.298000	0.77334	0.655000	0.94253	GAT	PC	-	pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	C	NM_001040716		66618223	-1	no_errors	ENST00000393958	ensembl	human	known	70_37	missense	SNP	0.994	T	T	66618223	C	T	66618223	3	4	59	1	0	0	0	0	1	0	0	0	11521	826	29	1	1165	1	PC	11	66618223	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	980554	66618223	68388293	76	9195										
SSH3	54961	genome.wustl.edu	37	chr11	67075201	67075201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tgcggcctcccagcgccgagCctggcgggtcagtgtgtgga	17	13	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:67075201C>T	ENST00000308127.4	+	7	962	c.784C>T	c.(784-786)Cct>Tct	p.P262S	SSH3_ENST00000376757.5_Missense_Mutation_p.P262S|SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Missense_Mutation_p.P262S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	262					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P262S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CAGCGCCGAGCCTGGCGGGTC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											26	31	29					11																	67075201		2200	4295	6495	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.784C>T	11.37:g.67075201C>T	ENSP00000312081:p.Pro262Ser		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P262S	ENST00000308127.4	37	c.784	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.615358	0.00835	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757;ENST00000527821	T;T;T;T	0.29655	3.87;1.56;3.93;2.36	4.4	1.41	0.22369	.	0.311056	0.26503	N	0.024013	T	0.10508	0.0257	N	0.05306	-0.075	0.09310	N	1	B;B	0.17667	0.023;0.0	B;B	0.12156	0.007;0.002	T	0.36432	-0.9748	10	0.02654	T	1	-3.2024	7.0787	0.25219	0.0:0.6083:0.0:0.3917	.	116;262	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	S	262;262;262;14	ENSP00000312081:P262S;ENSP00000310055:P262S;ENSP00000365948:P262S;ENSP00000433902:P14S	ENSP00000312081:P262S	P	+	1	0	SSH3	66831777	0.000000	0.05858	0.902000	0.35471	0.014000	0.08584	-0.189000	0.09629	0.436000	0.26393	0.462000	0.41574	CCT	SSH3	-	NULL		0.647	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	C	NM_018276		67075201	1	no_errors	ENST00000308127	ensembl	human	known	70_37	missense	SNP	0.013	T	T	67075201	C	T	67075201	3	4	59	1	0	0	0	0	1	0	0	0	15216	739	26	4	810	4	SSH3	11	67075201	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	456978	67075201	67931315	77	9196										
KCNE3	10008	genome.wustl.edu	37	chr11	74168589	74168589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggctctcataccaggtctccGttccattggtagtctccata	8	13	3	0	rs547194943	byFrequency	TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:74168589G>A	ENST00000310128.4	-	3	439	c.20C>T	c.(19-21)aCg>aTg	p.T7M	KCNE3_ENST00000525550.1_Missense_Mutation_p.T7M|RP11-702H23.6_ENST00000530510.1_RNA|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	7					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.T7M(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCAGGTCTCCGTTCCATTGGT	0.567													G|||	3	0.000599042	0	0.0014	5008	,	,		19484	0.002		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											71	68	69					11																	74168589		2200	4293	6493	SO:0001583	missense	10008			AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.20C>T	11.37:g.74168589G>A	ENSP00000310557:p.Thr7Met			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3,prints_K_chnl_volt-dep_bsu_KCNE	p.T7M	ENST00000310128.4	37	c.20	CCDS8232.1	11	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047456	0.19827	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569;ENST00000531854;ENST00000529425;ENST00000526855	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.17;-1.83	4.94	4.94	0.65067	.	0.230758	0.38058	N	0.001833	T	0.73401	0.3582	N	0.11560	0.145	0.32630	N	0.522144	B	0.20164	0.042	B	0.16722	0.016	T	0.72304	-0.4333	10	0.33141	T	0.24	-10.658	9.4216	0.38555	0.0949:0.0:0.9051:0.0	.	7	Q9Y6H6	KCNE3_HUMAN	M	7	ENSP00000310557:T7M;ENSP00000433633:T7M;ENSP00000431739:T7M;ENSP00000433697:T7M;ENSP00000434890:T7M	ENSP00000310557:T7M	T	-	2	0	KCNE3	73846237	1.000000	0.71417	0.848000	0.33437	0.127000	0.20565	4.508000	0.60441	2.717000	0.92951	0.462000	0.41574	ACG	KCNE3	-	prints_K_chnl_volt-dep_bsu_KCNE3		0.567	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE3	HGNC	protein_coding	OTTHUMT00000385531.1	G	NM_005472		74168589	-1	no_errors	ENST00000310128	ensembl	human	known	70_37	missense	SNP	0.814	A	A	74168589	G	A	74168589	3	1	59	1	0	0	0	0	1	0	0	0	8044	1145	40	2	295	2	KCNE3	11	74168589	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	7093388	74168589	60837927	78	9197										
OR8B8	26493	genome.wustl.edu	37	chr11	124310460	124310460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	atgtcacacatgtagtggttGacaaggttattggcacagaa	11	6	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:124310460G>A	ENST00000328064.2	-	1	594	c.522C>T	c.(520-522)gtC>gtT	p.V174V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	174					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V174V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTAGTGGTTGACAAGGTTAT	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											161	130	140					11																	124310460		2201	4299	6500	SO:0001819	synonymous_variant	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.522C>T	11.37:g.124310460G>A			A1L446|Q96RC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V174	ENST00000328064.2	37	c.522	CCDS8446.1	11																																																																																			OR8B8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.493	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	G	NM_012378		124310460	-1	no_errors	ENST00000328064	ensembl	human	putative	70_37	silent	SNP	0.012	A	A	124310460	G	A	124310460	2	1	59	1	0	0	0	0	0	0	0	1	11254	1277	45	1		1	OR8B8	11	124310460	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	50141871	124310460	10696056	79	9198										
DDX23	9416	genome.wustl.edu	37	chr12	49230515	49230515	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tctcatctaactttttctgaGaccaatgacgatcatcccag	5	12	4	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:49230515G>A	ENST00000308025.3	-	10	1152	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	358					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S358F(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTTTCTGAGACCAATGACG	0.532																																																	1	Substitution - Missense(1)	cervix(1)											174	162	166					12																	49230515		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1073C>T	12.37:g.49230515G>A	ENSP00000310723:p.Ser358Phe		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S358F	ENST00000308025.3	37	c.1073	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.310672	0.95629	.	.	ENSG00000174243	ENST00000308025	T	0.23950	1.88	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.79926	2.475	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.54390	-0.8301	10	0.87932	D	0	-10.663	18.8567	0.92255	0.0:0.0:1.0:0.0	.	358	Q9BUQ8	DDX23_HUMAN	F	358	ENSP00000310723:S358F	ENSP00000310723:S358F	S	-	2	0	DDX23	47516782	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.756000	0.85195	2.756000	0.94617	0.561000	0.74099	TCT	DDX23	-	NULL		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	G	NM_004818		49230515	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49230515	G	A	49230515	3	1	59	1	0	0	0	0	1	0	0	0	4355	942	33	1	1421	1	DDX23	12	49230515	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08		49230515	84621380	80	9199										
MLL2	8085	genome.wustl.edu	37	chr12	49420492	49420492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agcacttggttagcagtcctCggtgcagggcaacctccaca	11	13	0	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:49420492C>T	ENST00000301067.7	-	48	15256	c.15257G>A	c.(15256-15258)cGa>cAa	p.R5086Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5086					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4816Q(1)|p.R5086Q(1)									TAGCAGTCCTCGGTGCAGGGC	0.592																																																	2	Substitution - Missense(2)	cervix(2)											45	50	48					12																	49420492		2136	4244	6380	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15257G>A	12.37:g.49420492C>T	ENSP00000301067:p.Arg5086Gln		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R5086Q	ENST00000301067.7	37	c.15257	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018579	0.54576	.	.	ENSG00000167548	ENST00000301067	T	0.71341	-0.56	4.72	4.72	0.59763	.	0.000000	0.30020	N	0.010603	D	0.83815	0.5336	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86186	0.1609	10	0.87932	D	0	.	16.8307	0.85943	0.0:1.0:0.0:0.0	.	5086	O14686	MLL2_HUMAN	Q	5086	ENSP00000301067:R5086Q	ENSP00000301067:R5086Q	R	-	2	0	MLL2	47706759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.344000	0.79699	0.655000	0.94253	CGA	MLL2	-	NULL		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420492	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49420492	C	T	49420492	3	4	59	1	0	0	0	0	1	0	0	0	9644	884	31	1	1384	1	MLL2	12	49420492	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	189977	49420492	84431403	81	9200										
ITGA7	3679	genome.wustl.edu	37	chr12	56091557	56091557	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	catccatatccaagctgcctGacagggagtagccgaagctc	10	13	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56091557G>A	ENST00000555728.1	-	10	1491	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	ITGA7_ENST00000394230.2_Missense_Mutation_p.S448L|ITGA7_ENST00000394229.2_Missense_Mutation_p.S444L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S351L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S448L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S444L|ITGA7_ENST00000257879.6_Missense_Mutation_p.S444L|ITGA7_ENST00000257880.7_Missense_Mutation_p.S488L			Q13683	ITA7_HUMAN	integrin, alpha 7	488					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.S448L(1)|p.S444L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAAGCTGCCTGACAGGGAGTA	0.607																																																	2	Substitution - Missense(2)	cervix(2)											91	89	90					12																	56091557		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1463C>T	12.37:g.56091557G>A	ENSP00000452387:p.Ser488Leu		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S488L	ENST00000555728.1	37	c.1463		12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028715	0.75504	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000008	T	0.81964	0.4934	M	0.76938	2.355	0.80722	D	1	D;P;P;D	0.58620	0.97;0.95;0.84;0.983	P;P;P;P	0.61201	0.885;0.77;0.713;0.849	D	0.85158	0.0990	10	0.87932	D	0	.	14.6156	0.68547	0.0:0.0:1.0:0.0	.	351;488;448;507	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	L	448;444;444;351;488;448;444;488;488	ENSP00000452120:S448L;ENSP00000257879:S444L;ENSP00000343009:S444L;ENSP00000393844:S351L;ENSP00000257880:S488L;ENSP00000377777:S448L;ENSP00000377776:S444L;ENSP00000452387:S488L	ENSP00000257879:S444L	S	-	2	0	ITGA7	54377824	0.859000	0.29813	0.898000	0.35279	0.235000	0.25334	4.490000	0.60319	2.130000	0.65690	0.561000	0.74099	TCA	ITGA7	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.607	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56091557	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	missense	SNP	0.999	A	A	56091557	G	A	56091557	3	1	59	1	0	0	0	0	1	0	0	0	7901	1294	45	1	2150	1	ITGA7	12	56091557	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	6671065	56091557	77760338	82	9201										
SLC39A5	283375	genome.wustl.edu	37	chr12	56630255	56630255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	atggcagtgggatggcccttCagcccctacaggcagctcca	12	14	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56630255C>A	ENST00000266980.4	+	7	1314	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	SLC39A5_ENST00000454355.2_Missense_Mutation_p.Q341K|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	341					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.Q340K(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GATGGCCCTTCAGCCCCTACA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											113	116	115					12																	56630255		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1021C>A	12.37:g.56630255C>A	ENSP00000266980:p.Gln341Lys		B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.Q341K	ENST00000266980.4	37	c.1021	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	7.502	0.652805	0.14580	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.46063	0.88;0.88	4.86	3.97	0.46021	.	0.436673	0.19794	N	0.105905	T	0.21921	0.0528	N	0.16903	0.455	0.27080	N	0.96312	B	0.23650	0.089	B	0.25405	0.06	T	0.24048	-1.0171	10	0.02654	T	1	0.7258	9.0193	0.36191	0.0:0.9004:0.0:0.0996	.	341	Q6ZMH5	S39A5_HUMAN	K	341	ENSP00000405360:Q341K;ENSP00000266980:Q341K	ENSP00000266980:Q341K	Q	+	1	0	SLC39A5	54916522	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.368000	0.34216	1.414000	0.47017	0.655000	0.94253	CAG	SLC39A5	-	pfam_ZIP		0.527	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56630255	1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56630255	C	A	56630255	3	1	59	1	0	0	0	0	1	0	0	0	14651	827	29	3	1043	3	SLC39A5	12	56630255	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	538698	56630255	77221640	83	9202			2	41		3	3	746	C		5.18163e-06
SLC39A5	283375	genome.wustl.edu	37	chr12	56630958	56630958	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctttgccatgctgctccagtCagggctgtcctttcggcggc	12	14	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56630958C>T	ENST00000266980.4	+	10	1606	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S438L|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	438					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.S437L(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGCTCCAGTCAGGGCTGTCC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											50	51	50					12																	56630958		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1313C>T	12.37:g.56630958C>T	ENSP00000266980:p.Ser438Leu		B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.S438L	ENST00000266980.4	37	c.1313	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284338	0.59867	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.50001	0.76;0.76	4.79	3.87	0.44632	.	0.488016	0.18933	N	0.127151	T	0.50274	0.1606	M	0.81179	2.53	0.39772	D	0.972186	B	0.20164	0.042	B	0.25506	0.061	T	0.56414	-0.7983	10	0.87932	D	0	-7.3761	9.1483	0.36946	0.1711:0.6747:0.1542:0.0	.	438	Q6ZMH5	S39A5_HUMAN	L	438	ENSP00000405360:S438L;ENSP00000266980:S438L	ENSP00000266980:S438L	S	+	2	0	SLC39A5	54917225	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.828000	0.55753	1.331000	0.45412	0.561000	0.74099	TCA	SLC39A5	-	pfam_ZIP		0.647	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56630958	1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56630958	C	T	56630958	3	4	59	1	0	0	0	0	1	0	0	0	14651	838	29	1	1347	1	SLC39A5	12	56630958	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	703	56630958	77220937	84	9203			2	41		3	3	746	C		5.18163e-06
SLC39A5	283375	genome.wustl.edu	37	chr12	56631000	56631000	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gctgctgctgagcctcgtgtCtggagccctgggattggggg	18	10	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56631000C>T	ENST00000266980.4	+	10	1648	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S452F|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	452					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.S451F(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCCTCGTGTCTGGAGCCCTG	0.642																																																	1	Substitution - Missense(1)	cervix(1)											45	50	49					12																	56631000		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1355C>T	12.37:g.56631000C>T	ENSP00000266980:p.Ser452Phe		B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.S452F	ENST00000266980.4	37	c.1355	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524437	0.85600	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.44881	0.91;0.91	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000026	T	0.69691	0.3139	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75806	-0.3188	10	0.87932	D	0	-9.7804	17.1368	0.86742	0.0:1.0:0.0:0.0	.	452	Q6ZMH5	S39A5_HUMAN	F	452	ENSP00000405360:S452F;ENSP00000266980:S452F	ENSP00000266980:S452F	S	+	2	0	SLC39A5	54917267	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.191000	0.65110	2.669000	0.90835	0.561000	0.74099	TCT	SLC39A5	-	pfam_ZIP		0.642	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56631000	1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56631000	C	T	56631000	3	4	59	1	0	0	0	0	1	0	0	0	14651	913	32	1	1389	1	SLC39A5	12	56631000	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	42	56631000	77220895	85	9204			2	41		3	3	746	C		5.18163e-06
KNTC1	9735	genome.wustl.edu	37	chr12	123087422	123087422	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccaacattgctcttaatttcGaaattaatgaaggtaatgga	7	6	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:123087422G>A	ENST00000333479.7	+	47	5049	c.4872G>A	c.(4870-4872)tcG>tcA	p.S1624S	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.S49S|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1624					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.S1624S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTTAATTTCGAAATTAATGA	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											118	111	113					12																	123087422		1809	4076	5885	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4872G>A	12.37:g.123087422G>A			A7E2C4|B3KSG2	Silent	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.S1624	ENST00000333479.7	37	c.4872	CCDS45002.1	12																																																																																			KNTC1	-	pfam_RZZ-complex_KNTC1/ROD_C		0.328	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123087422	1	no_errors	ENST00000333479	ensembl	human	known	70_37	silent	SNP	0.115	A	A	123087422	G	A	123087422	2	1	59	1	0	0	0	0	0	0	0	1	8448	1045	37	1		1	KNTC1	12	123087422	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	66456422	123087422	10764473	86	9205										
EP400	57634	genome.wustl.edu	37	chr12	132529427	132529427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tctcatgtatgaagccactcCcatcccagaggctaagctgc	8	14	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:132529427C>T	ENST00000333577.4	+	38	6930	c.6821C>T	c.(6820-6822)cCc>cTc	p.P2274L	EP400_ENST00000330386.6_Missense_Mutation_p.P2157L|EP400_ENST00000332482.4_Missense_Mutation_p.P2201L|EP400_ENST00000389561.2_Missense_Mutation_p.P2238L|EP400_ENST00000389562.2_Missense_Mutation_p.P2237L			Q96L91	EP400_HUMAN	E1A binding protein p400	2274					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P2237L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCCACTCCCATCCCAGAG	0.607																																																	1	Substitution - Missense(1)	cervix(1)											82	73	76					12																	132529427		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6821C>T	12.37:g.132529427C>T	ENSP00000333602:p.Pro2274Leu		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P2274L	ENST00000333577.4	37	c.6821		12	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547986	0.45383	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.71;-2.71;-2.72;-2.71;-2.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95296	0.8399	10	0.66056	D	0.02	.	19.5775	0.95450	0.0:1.0:0.0:0.0	.	2238;2157;2237	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	2274;2238;2237;2201;2157;2238	ENSP00000333602:P2274L;ENSP00000374212:P2238L;ENSP00000374213:P2237L;ENSP00000331737:P2201L;ENSP00000330620:P2157L	ENSP00000330620:P2157L	P	+	2	0	EP400	131095380	1.000000	0.71417	0.997000	0.53966	0.407000	0.30961	7.476000	0.81055	2.625000	0.88918	0.591000	0.81541	CCC	EP400	-	NULL		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132529427	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132529427	C	T	132529427	3	4	59	1	0	0	0	0	1	0	0	0	5161	623	22	4	6852	4	EP400	12	132529427	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	9442005	132529427	1322468	87	9206										
FRY	10129	genome.wustl.edu	37	chr13	32776660	32776660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gagctcacactccccctcttCtcaggtaccaggcaatagtc	7	16	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr13:32776660C>T	ENST00000380250.3	+	31	4510	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1338						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F1338F(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCCCCTCTTCTCAGGTACCA	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											67	65	65					13																	32776660		1954	4152	6106	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4014C>T	13.37:g.32776660C>T			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.F1338	ENST00000380250.3	37	c.4014	CCDS41875.1	13																																																																																			FRY	-	NULL		0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32776660	1	no_errors	ENST00000380250	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32776660	C	T	32776660	2	4	59	1	0	0	0	0	0	0	0	1	6081	912	32	1		1	FRY	13	32776660	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		32776660	82393218	88	9207										
PCDH9	5101	genome.wustl.edu	37	chr13	67801613	67801613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttgtgaatggctgtctcctcTctatctaaggacctctgaac	8	11	4	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr13:67801613T>C	ENST00000377865.2	-	1	1094	c.960A>G	c.(958-960)agA>agG	p.R320R	PCDH9_ENST00000456367.1_Silent_p.R320R|PCDH9_ENST00000377861.3_Silent_p.R320R|PCDH9_ENST00000544246.1_Silent_p.R320R|PCDH9_ENST00000328454.5_Silent_p.R320R			Q9HC56	PCDH9_HUMAN	protocadherin 9	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R320R(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGTCTCCTCTCTATCTAAGG	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											96	96	96					13																	67801613		2203	4300	6503	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.960A>G	13.37:g.67801613T>C			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R320	ENST00000377865.2	37	c.960	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.478	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	T	NM_203487		67801613	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	silent	SNP	1.000	C	C	67801613	T	C	67801613	2	2	59	1	0	0	0	0	0	0	0	1	11542	1548	54	5		5	PCDH9	13	67801613	Silent	SNP	T	TCGA-DS-A0VK-01A-21D-A10S-08	35024953	67801613	47368265	89	9208										
MYH6	4624	genome.wustl.edu	37	chr14	23869468	23869468	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tgaggccaaggaggcaccttCtcgatgaggtcaatgcaggc	14	10	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:23869468C>T	ENST00000356287.3	-	13	1607	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	MYH6_ENST00000405093.3_Silent_p.E526E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	526	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E526E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAGGCACCTTCTCGATGAGGT	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											215	155	176					14																	23869468		2203	4300	6503	SO:0001819	synonymous_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1578G>A	14.37:g.23869468C>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E526	ENST00000356287.3	37	c.1578	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23869468	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23869468	C	T	23869468	2	4	59	1	0	0	0	0	0	0	0	1	10061	912	32	1		1	MYH6	14	23869468	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		23869468	83480072	90	9209										
C14orf106	55320	genome.wustl.edu	37	chr14	45693467	45693467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttccttttctgtttcactttCttcacttgacaaatctggtg	5	10	5	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:45693467C>G	ENST00000310806.4	-	11	2781	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	775					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E775Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTTTCACTTTCTTCACTTGAC	0.348																																																	1	Substitution - Missense(1)	cervix(1)											119	118	118					14																	45693467		2203	4300	6503	SO:0001583	missense	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2323G>C	14.37:g.45693467C>G	ENSP00000309790:p.Glu775Gln		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E775Q	ENST00000310806.4	37	c.2323	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962904	0.53507	.	.	ENSG00000129534	ENST00000310806	T	0.23147	1.92	5.72	4.78	0.61160	.	0.545066	0.19630	N	0.109696	T	0.31796	0.0808	M	0.66939	2.045	0.31174	N	0.702876	D	0.53619	0.961	P	0.47206	0.541	T	0.36601	-0.9741	10	0.32370	T	0.25	-2.4018	9.8594	0.41105	0.0:0.8964:0.0:0.1036	.	775	Q6P0N0	M18BP_HUMAN	Q	775	ENSP00000309790:E775Q	ENSP00000309790:E775Q	E	-	1	0	MIS18BP1	44763217	0.389000	0.25205	0.827000	0.32855	0.792000	0.44763	1.470000	0.35354	1.426000	0.47256	0.655000	0.94253	GAA	MIS18BP1	-	NULL		0.348	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	C			45693467	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	missense	SNP	0.937	G	G	45693467	C	G	45693467	3	3	59	1	0	0	0	0	1	0	0	0	1742	922	32	1	1103	1	C14orf106	14	45693467	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	21823999	45693467	61656073	91	9210										
SOCS4	122809	genome.wustl.edu	37	chr14	55509864	55509864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggttatgtgtggagtggaaaGaagttatcttggtcaaaaaa	13	2	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:55509864G>C	ENST00000395472.2	+	2	437	c.105G>C	c.(103-105)aaG>aaC	p.K35N	SOCS4_ENST00000339298.2_Missense_Mutation_p.K35N|SOCS4_ENST00000555846.1_Missense_Mutation_p.K35N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	35					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.K35N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GGAGTGGAAAGAAGTTATCTT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											147	146	146					14																	55509864		2203	4300	6503	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.105G>C	14.37:g.55509864G>C	ENSP00000378855:p.Lys35Asn			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.K35N	ENST00000395472.2	37	c.105	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064349	0.36373	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.49139	0.79;0.79;0.79	5.75	2.38	0.29361	.	0.000000	0.64402	D	0.000002	T	0.51719	0.1691	N	0.24115	0.695	0.44302	D	0.997177	D	0.89917	1.0	D	0.85130	0.997	T	0.54536	-0.8279	10	0.87932	D	0	-16.4542	11.4152	0.49947	0.2405:0.0:0.7595:0.0	.	35	Q8WXH5	SOCS4_HUMAN	N	35	ENSP00000378855:K35N;ENSP00000452522:K35N;ENSP00000341327:K35N	ENSP00000341327:K35N	K	+	3	2	SOCS4	54579617	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.454000	0.35178	0.728000	0.32382	-0.140000	0.14226	AAG	SOCS4	-	NULL		0.383	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509864	1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55509864	G	C	55509864	3	2	59	1	0	0	0	0	1	0	0	0	14946	933	33	1	107	1	SOCS4	14	55509864	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	9816397	55509864	51839676	92	9211										
MAP3K9	4293	genome.wustl.edu	37	chr14	71267429	71267429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gatgatgggaacaattgcctCatcatgtaagtagttcatcc	9	8	3	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:71267429C>T	ENST00000554752.2	-	2	774	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MAP3K9_ENST00000381250.4_Missense_Mutation_p.E259K|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E259K	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E259K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACAATTGCCTCATCATGTAAG	0.498																																					GBM(114;411 1587 13539 28235 50070)												1	Substitution - Missense(1)	cervix(1)											136	119	125					14																	71267429		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.775G>A	14.37:g.71267429C>T	ENSP00000451612:p.Glu259Lys		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E259K	ENST00000554752.2	37	c.775		14	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646287	0.87958	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	T;T	0.81078	-1.45;-1.45	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.050581	0.85682	D	0.000000	T	0.74183	0.3683	N	0.01742	-0.745	0.80722	D	1	P;P	0.42961	0.795;0.746	P;P	0.53549	0.714;0.729	T	0.81210	-0.1036	10	0.54805	T	0.06	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	259;259	P80192;P80192-4	M3K9_HUMAN;.	K	259	ENSP00000451612:E259K;ENSP00000370649:E259K	ENSP00000005198:E259K	E	-	1	0	MAP3K9	70337182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.572000	0.45999	2.814000	0.96858	0.655000	0.94253	GAG	MAP3K9	-	pirsf_MAPKKK9/10/11,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		0.498	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	C			71267429	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71267429	C	T	71267429	3	4	59	1	0	0	0	0	1	0	0	0	9280	835	29	1	2629	1	MAP3K9	14	71267429	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	15757565	71267429	36082111	93	9212										
LYSMD4	145748	genome.wustl.edu	37	chr15	100269463	100269463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttggggatgacagttgtgttCaagctattaggggtctcacc	13	7	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr15:100269463C>T	ENST00000409796.1	-	3	818	c.756G>A	c.(754-756)ttG>ttA	p.L252L	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_Silent_p.L126L|LYSMD4_ENST00000344791.2_Silent_p.L253L|LYSMD4_ENST00000332728.4_Silent_p.L252L	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	252						integral component of membrane (GO:0016021)		p.L253L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CAGTTGTGTTCAAGCTATTAG	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											122	117	119					15																	100269463		2203	4300	6503	SO:0001819	synonymous_variant	145748			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.756G>A	15.37:g.100269463C>T			A6NII6|A8K2N1|Q96LY7	Silent	SNP	NULL	p.L253	ENST00000409796.1	37	c.759		15																																																																																			LYSMD4	-	NULL		0.478	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000335634.1	C	NM_152449		100269463	-1	no_errors	ENST00000344791	ensembl	human	known	70_37	silent	SNP	0.917	T	T	100269463	C	T	100269463	2	4	59	1	0	0	0	0	0	0	0	1	9150	825	29	1		1	LYSMD4	15	100269463	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		100269463	2261929	94	9213										
CHSY1	22856	genome.wustl.edu	37	chr15	101719133	101719133	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttttactgttatggagatctCtaatgtacccctttttgttc	6	8	1	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr15:101719133C>G	ENST00000254190.3	-	3	1344	c.869G>C	c.(868-870)aGa>aCa	p.R290T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	290					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.R290T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGAGATCTCTAATGTACCC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											106	110	108					15																	101719133		2203	4300	6503	SO:0001583	missense	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.869G>C	15.37:g.101719133C>G	ENSP00000254190:p.Arg290Thr		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.R290T	ENST00000254190.3	37	c.869	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848637	0.32699	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	D	0.89617	-2.54	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	L	0.47716	1.5	0.58432	D	0.999998	B	0.15719	0.014	B	0.25506	0.061	T	0.78763	-0.2077	10	0.16420	T	0.52	-30.3489	13.1667	0.59575	0.0:0.9237:0.0:0.0763	.	290	Q86X52	CHSS1_HUMAN	T	290;18	ENSP00000254190:R290T	ENSP00000254190:R290T	R	-	2	0	CHSY1	99536656	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.914000	0.56401	2.448000	0.82819	0.561000	0.74099	AGA	CHSY1	-	pfam_Chond_GalNAc		0.398	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	C	NM_014918		101719133	-1	no_errors	ENST00000254190	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101719133	C	G	101719133	3	3	59	1	0	0	0	0	1	0	0	0	3417	913	32	1	1543	1	CHSY1	15	101719133	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	1449670	101719133	812259	95	9214										
ARHGAP17	55114	genome.wustl.edu	37	chr16	24988547	24988547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gatactcacgtgtctcctctCggcatcggtgccatgctggc	11	14	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr16:24988547C>T	ENST00000289968.6	-	3	256	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E63K|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E63K	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	63	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.E63K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGTCTCCTCTCGGCATCGGTG	0.542																																																	2	Substitution - Missense(2)	cervix(2)											71	53	59					16																	24988547		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.187G>A	16.37:g.24988547C>T	ENSP00000289968:p.Glu63Lys		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.E63K	ENST00000289968.6	37	c.187	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.162222	0.94727	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.28895	1.59;1.59;1.59	5.68	5.68	0.88126	BAR (3);	0.473515	0.17775	N	0.162441	T	0.50956	0.1646	M	0.68952	2.095	0.51233	D	0.999914	D;D;D	0.63880	0.964;0.974;0.993	P;P;P	0.57548	0.454;0.458;0.823	T	0.49943	-0.8885	10	0.66056	D	0.02	.	17.2861	0.87142	0.0:1.0:0.0:0.0	.	63;63;63	Q68EM7-4;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	K	63	ENSP00000289968:E63K;ENSP00000303130:E63K;ENSP00000406950:E63K	ENSP00000289968:E63K	E	-	1	0	ARHGAP17	24896048	1.000000	0.71417	0.957000	0.39632	0.629000	0.37895	6.671000	0.74472	2.660000	0.90430	0.650000	0.86243	GAG	ARHGAP17	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.542	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	C	NM_018054		24988547	-1	no_errors	ENST00000289968	ensembl	human	known	70_37	missense	SNP	0.998	T	T	24988547	C	T	24988547	3	4	59	1	0	0	0	0	1	0	0	0	867	893	31	1	2530	1	ARHGAP17	16	24988547	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		24988547	65366206	96	9215										
BBS2	583	genome.wustl.edu	37	chr16	56531748	56531748	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aaaaatgatgccattgactgGatgatatcaccagccaaatc	7	9	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr16:56531748G>T	ENST00000245157.5	-	14	2124	c.1704C>A	c.(1702-1704)atC>atA	p.I568I	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	568					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I568I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCATTGACTGGATGATATCAC	0.373									Bardet-Biedl syndrome																																								1	Substitution - coding silent(1)	cervix(1)											101	95	97					16																	56531748		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1704C>A	16.37:g.56531748G>T			Q96CM0|Q96SN9	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.I568	ENST00000245157.5	37	c.1704	CCDS32451.1	16																																																																																			BBS2	-	pirsf_Bardet-Biedl_syndrome_2_prot		0.373	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	G	NM_031885		56531748	-1	no_errors	ENST00000245157	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56531748	G	T	56531748	2	4	59	1	0	0	0	0	0	0	0	1	1339	1164	41	3		3	BBS2	16	56531748	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	31543201	56531748	33823005	97	9216										
CES3	23491	genome.wustl.edu	37	chr16	66995225	66995225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aggagaatggagagagcagtGagagtggagtccggggtcct	19	5	0	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr16:66995225G>A	ENST00000303334.4	+	1	86	c.15G>A	c.(13-15)gtG>gtA	p.V5V	CES3_ENST00000394037.1_Silent_p.V5V|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	5						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.V5V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGAGAGCAGTGAGAGTGGAGT	0.572											OREG0023869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	cervix(1)											96	83	87					16																	66995225		2200	4300	6500	SO:0001819	synonymous_variant	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.15G>A	16.37:g.66995225G>A		1096	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V5	ENST00000303334.4	37	c.15	CCDS10826.1	16																																																																																			CES3	-	NULL		0.572	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	G	NM_024922		66995225	1	no_errors	ENST00000303334	ensembl	human	known	70_37	silent	SNP	0.000	A	A	66995225	G	A	66995225	2	1	59	1	0	0	0	0	0	0	0	1	3276	1277	45	1		1	CES3	16	66995225	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	10463477	66995225	23359528	98	9217										
SMYD4	114826	genome.wustl.edu	37	chr17	1684631	1684631	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aagtccaacaaacaggatttCatcttctggagctcctggat	8	10	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:1684631C>A	ENST00000305513.7	-	11	2531	c.2364G>T	c.(2362-2364)atG>atT	p.M788I		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	788							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.M788I(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AACAGGATTTCATCTTCTGGA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											108	98	102					17																	1684631		2203	4300	6503	SO:0001583	missense	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2364G>T	17.37:g.1684631C>A	ENSP00000304360:p.Met788Ile		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.M788I	ENST00000305513.7	37	c.2364	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802327	0.90538	.	.	ENSG00000186532	ENST00000305513	T	0.12361	2.69	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.78801	2.425	0.58432	D	0.999998	D	0.64830	0.994	P	0.58820	0.846	T	0.14035	-1.0487	10	0.87932	D	0	-23.7907	19.8531	0.96747	0.0:1.0:0.0:0.0	.	788	Q8IYR2	SMYD4_HUMAN	I	788	ENSP00000304360:M788I	ENSP00000304360:M788I	M	-	3	0	SMYD4	1631381	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.065000	0.71176	2.689000	0.91719	0.561000	0.74099	ATG	SMYD4	-	NULL		0.527	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	C	XM_056082		1684631	-1	no_errors	ENST00000305513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1684631	C	A	1684631	3	1	59	1	0	0	0	0	1	0	0	0	14854	826	29	3	54	3	SMYD4	17	1684631	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		1684631	79510579	99	9218										
ITGAE	3682	genome.wustl.edu	37	chr17	3661017	3661017	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	taccccaatggcaaagcgctCaacaccctgcattttggggg	10	13	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:3661017C>T	ENST00000263087.4	-	9	1101	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	335	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E335K(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCAAAGCGCTCAACACCCTGC	0.577																																					NSCLC(182;635 2928 8995 38788)												1	Substitution - Missense(1)	cervix(1)											211	209	210					17																	3661017		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1003G>A	17.37:g.3661017C>T	ENSP00000263087:p.Glu335Lys		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.E335K	ENST00000263087.4	37	c.1003	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707029	0.68615	.	.	ENSG00000083457	ENST00000263087	D	0.83163	-1.69	5.56	5.56	0.83823	von Willebrand factor, type A (3);	.	.	.	.	D	0.84028	0.5382	M	0.73319	2.225	0.27943	N	0.937455	B	0.34103	0.437	B	0.35550	0.205	T	0.79825	-0.1640	9	0.54805	T	0.06	.	17.3887	0.87424	0.0:1.0:0.0:0.0	.	335	P38570	ITAE_HUMAN	K	335	ENSP00000263087:E335K	ENSP00000263087:E335K	E	-	1	0	ITGAE	3607766	0.990000	0.36364	0.988000	0.46212	0.928000	0.56348	2.502000	0.45398	2.787000	0.95880	0.514000	0.50259	GAG	ITGAE	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.577	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	C	NM_002208		3661017	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	missense	SNP	0.997	T	T	3661017	C	T	3661017	3	4	59	1	0	0	0	0	1	0	0	0	7905	835	29	1	2628	1	ITGAE	17	3661017	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	1976386	3661017	77534193	100	9219										
ACAP1	9744	genome.wustl.edu	37	chr17	7252323	7252323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cccccgaacagagcccccctCtgaggacctgggaagcctgc	11	18	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:7252323C>T	ENST00000158762.3	+	18	1894	c.1688C>T	c.(1687-1689)tCt>tTt	p.S563F	ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	563	Prevents interaction with ITGB1 when S- 554 is not phosphorylated.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S563F(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GAGCCCCCCTCTGAGGACCTG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											75	83	80					17																	7252323		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1688C>T	17.37:g.7252323C>T	ENSP00000158762:p.Ser563Phe		Q53XN9	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.S563F	ENST00000158762.3	37	c.1688	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	C	9.674	1.147371	0.21288	.	.	ENSG00000072818	ENST00000158762	T	0.73789	-0.78	5.13	5.13	0.70059	.	0.558163	0.17850	N	0.159917	T	0.63010	0.2475	L	0.29908	0.895	0.80722	D	1	P	0.41748	0.761	B	0.41723	0.365	T	0.58267	-0.7666	10	0.09590	T	0.72	.	13.9519	0.64123	0.0:1.0:0.0:0.0	.	563	Q15027	ACAP1_HUMAN	F	563	ENSP00000158762:S563F	ENSP00000158762:S563F	S	+	2	0	ACAP1	7193047	0.988000	0.35896	0.963000	0.40424	0.041000	0.13682	4.692000	0.61746	2.675000	0.91044	0.655000	0.94253	TCT	ACAP1	-	NULL		0.592	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	C	NM_014716		7252323	1	no_errors	ENST00000158762	ensembl	human	known	70_37	missense	SNP	0.991	T	T	7252323	C	T	7252323	3	4	59	1	0	0	0	0	1	0	0	0	118	913	32	1	1758	1	ACAP1	17	7252323	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	3591306	7252323	73942887	101	9220										
ACAP1	9744	genome.wustl.edu	37	chr17	7252471	7252471	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gataatgccacaccgctgatCcaggccacagctgctgtaag	10	13	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:7252471C>G	ENST00000158762.3	+	18	2042	c.1836C>G	c.(1834-1836)atC>atG	p.I612M	ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	612	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.I612M(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CACCGCTGATCCAGGCCACAG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											95	80	85					17																	7252471		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1836C>G	17.37:g.7252471C>G	ENSP00000158762:p.Ile612Met		Q53XN9	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.I612M	ENST00000158762.3	37	c.1836	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310187	0.40895	.	.	ENSG00000072818	ENST00000158762	T	0.63096	-0.02	5.41	3.39	0.38822	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	N	0.10874	0.06	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.58423	-0.7639	10	0.34782	T	0.22	.	10.3435	0.43893	0.0:0.8365:0.0:0.1635	.	612	Q15027	ACAP1_HUMAN	M	612	ENSP00000158762:I612M	ENSP00000158762:I612M	I	+	3	3	ACAP1	7193195	0.661000	0.27430	1.000000	0.80357	0.963000	0.63663	-0.323000	0.07997	1.517000	0.48917	0.561000	0.74099	ATC	ACAP1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.602	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	C	NM_014716		7252471	1	no_errors	ENST00000158762	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7252471	C	G	7252471	3	3	59	1	0	0	0	0	1	0	0	0	118	845	30	1	1906	1	ACAP1	17	7252471	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	148	7252471	73942739	102	9221										
MYH13	8735	genome.wustl.edu	37	chr17	10248901	10248901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aggaacatcttctcgtagacGgctttggccagagcacccac	10	13	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:10248901G>A	ENST00000418404.3	-	13	1459	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	MYH13_ENST00000252172.4_Silent_p.A432A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	432	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A432A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCGTAGACGGCTTTGGCCA	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											159	150	153					17																	10248901		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1296C>T	17.37:g.10248901G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A432	ENST00000418404.3	37	c.1296	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.507	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10248901	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	0.692	A	A	10248901	G	A	10248901	2	1	59	1	0	0	0	0	0	0	0	1	10055	1103	39	2		2	MYH13	17	10248901	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	2996430	10248901	70946309	103	9222										
NCOR1	9611	genome.wustl.edu	37	chr17	15976884	15976884	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttctcgggcattcttaatatCtacagaatacacaaacaaga	5	9	3	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:15976884C>T	ENST00000268712.3	-	28	3928		c.e28-1		NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCTTAATATCTACAGAATAC	0.348																																																	1	Unknown(1)	cervix(1)											77	69	72					17																	15976884		2203	4300	6503	SO:0001630	splice_region_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3671-1G>A	17.37:g.15976884C>T			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	-	e27-1	ENST00000268712.3	37	c.3671-1	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243157	0.79912	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15917609	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	6.348000	0.73009	2.808000	0.96608	0.655000	0.94253	.	NCOR1	-	-		0.348	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	C	NM_006311	Intron	15976884	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	15976884	C	T	15976884	5	4	59	1	0	0	0	0	0	0	1	0	10259	927	32	1	3728	1	NCOR1	17	15976884	Splice_Site	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	5727983	15976884	65218326	104	9223										
NF1	4763	genome.wustl.edu	37	chr17	29553644	29553644	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaagtgtcagtgcataacctCttgcccaactataacacatt	6	11	2	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:29553644C>T	ENST00000358273.4	+	18	2576	c.2193C>T	c.(2191-2193)ctC>ctT	p.L731L	NF1_ENST00000356175.3_Silent_p.L731L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	731					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L731L(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCATAACCTCTTGCCCAACT	0.458			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - coding silent(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|cervix(2)|lung(1)											134	118	124					17																	29553644		2203	4300	6503	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2193C>T	17.37:g.29553644C>T			O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L731	ENST00000358273.4	37	c.2193	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold		0.458	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29553644	1	no_errors	ENST00000358273	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29553644	C	T	29553644	2	4	59	1	0	0	0	0	0	0	0	1	10380	900	32	1		1	NF1	17	29553644	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	13576760	29553644	51641566	105	9224			3	42		3	3	2563	C		6.101688e-05
NF1	4763	genome.wustl.edu	37	chr17	29554588	29554588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaacaagcaacaaagctaatCcttaactatccaaaagccaa	4	11	0	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:29554588C>G	ENST00000358273.4	+	20	2756	c.2373C>G	c.(2371-2373)atC>atG	p.I791M	NF1_ENST00000356175.3_Missense_Mutation_p.I791M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	791					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.I791M(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAGCTAATCCTTAACTATC	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|cervix(2)|lung(1)											100	87	92					17																	29554588		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2373C>G	17.37:g.29554588C>G	ENSP00000351015:p.Ile791Met		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.I791M	ENST00000358273.4	37	c.2373	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	.	16.17	3.047453	0.55110	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.66638	-0.22;-0.22;2.89	4.83	1.71	0.24356	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	L	0.27053	0.805	0.80722	D	1	P;D;B	0.60575	0.929;0.988;0.369	P;D;B	0.69654	0.606;0.965;0.075	T	0.62914	-0.6753	10	0.72032	D	0.01	.	5.1719	0.15114	0.1441:0.6299:0.0:0.226	.	791;791;791	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	M	791;791;457	ENSP00000351015:I791M;ENSP00000348498:I791M;ENSP00000389907:I457M	ENSP00000348498:I791M	I	+	3	3	NF1	26578714	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.352000	0.20113	0.194000	0.20326	-0.158000	0.13435	ATC	NF1	-	superfamily_ARM-type_fold		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29554588	1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	0.998	G	G	29554588	C	G	29554588	3	3	59	1	0	0	0	0	1	0	0	0	10380	845	30	1	2512	1	NF1	17	29554588	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	944	29554588	51640622	106	9225			3	42		3	3	2563	C		6.101688e-05
NF1	4763	genome.wustl.edu	37	chr17	29556206	29556206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cctccagcagagaagcaattCtggcctggcaacctatagcc	9	14	1	1	rs369493270		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:29556206C>A	ENST00000358273.4	+	21	2956	c.2573C>A	c.(2572-2574)tCt>tAt	p.S858Y	NF1_ENST00000356175.3_Missense_Mutation_p.S858Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	858					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.S858Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGCAATTCTGGCCTGGCA	0.507			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|cervix(2)|lung(1)											46	44	45					17																	29556206		2203	4298	6501	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2573C>A	17.37:g.29556206C>A	ENSP00000351015:p.Ser858Tyr		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S858Y	ENST00000358273.4	37	c.2573	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	.	14.67	2.603315	0.46423	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09817	3.08;3.23;2.94	5.59	4.42	0.53409	Armadillo-type fold (1);	0.240122	0.44097	D	0.000498	T	0.10852	0.0265	L	0.42245	1.32	0.80722	D	1	B;B;B	0.32939	0.391;0.115;0.001	B;B;B	0.31101	0.109;0.124;0.006	T	0.05007	-1.0912	10	0.59425	D	0.04	.	13.1458	0.59461	0.0:0.867:0.0:0.133	.	858;858;858	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	Y	858;858;524	ENSP00000351015:S858Y;ENSP00000348498:S858Y;ENSP00000389907:S524Y	ENSP00000348498:S858Y	S	+	2	0	NF1	26580332	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.087000	0.50167	2.634000	0.89283	0.555000	0.69702	TCT	NF1	-	superfamily_ARM-type_fold		0.507	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29556206	1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29556206	C	A	29556206	3	1	59	1	0	0	0	0	1	0	0	0	10380	913	32	3	2716	3	NF1	17	29556206	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	1618	29556206	51639004	107	9226			3	42		3	3	2563	C		6.101688e-05
CACNA1G	8913	genome.wustl.edu	37	chr17	48677083	48677083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tgcaggtgccagggctgcatCgcactgccagtggccgaggg	17	12	0	0	rs573971701		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:48677083C>T	ENST00000359106.5	+	17	3553	c.3553C>T	c.(3553-3555)Cgc>Tgc	p.R1185C	CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1162C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1162C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1162C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1185C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1162C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1185C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1162C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1162C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1185C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1162C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1162C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1185					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.R1185C(3)|p.R1162C(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGCTGCATCGCACTGCCAG	0.682																																																	4	Substitution - Missense(4)	cervix(4)											26	33	31					17																	48677083		2096	4212	6308	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3553C>T	17.37:g.48677083C>T	ENSP00000352011:p.Arg1185Cys		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1185C	ENST00000359106.5	37	c.3553	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	16.57	3.161502	0.57368	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-4.11;-4.11;-4.25;-4.06;-4.1;-4.1;-4.13;-4.2;-4.17;-4.19;-4.2;-4.07;-4.09;-4.15;-4.1;-4.05;-4.14;-4.09;-4.07;-4.14;-4.11;-4.09;-4.13;-4.07;-4.13;-4.13	4.93	3.95	0.45737	.	0.379291	0.28290	N	0.015897	D	0.96448	0.8841	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;0.999;1.0;1.0;0.999;1.0;0.661;1.0;1.0;1.0;0.992;1.0;0.996;0.997;1.0	D;P;D;P;D;D;D;D;D;D;D;P;P;P;D;P;D;B;P;D;D;P;D;P;P;D	0.80764	0.992;0.786;0.935;0.899;0.932;0.994;0.994;0.932;0.994;0.912;0.912;0.894;0.856;0.871;0.976;0.786;0.917;0.109;0.899;0.912;0.988;0.731;0.912;0.786;0.548;0.962	D	0.96157	0.9112	10	0.66056	D	0.02	.	10.5723	0.45206	0.1497:0.7063:0.1441:0.0	.	1162;1185;1185;1185;1185;1185;1185;1185;1185;1185;1185;1162;1185;1185;1185;1185;1185;1162;1185;1162;1162;1162;1162;1185;1162;1185	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	C	1162;1162;1185;1162;1162;1162;1185;1185;1162;1185;1185;1185;1185;1185;1185;1162;1185;1185;1185;1185;1162;1185;1185;1185;1185;1185	ENSP00000353990:R1162C;ENSP00000339302:R1162C;ENSP00000392390:R1185C;ENSP00000347078:R1162C;ENSP00000409759:R1162C;ENSP00000425522:R1162C;ENSP00000426261:R1185C;ENSP00000425451:R1185C;ENSP00000422407:R1162C;ENSP00000426814:R1185C;ENSP00000427238:R1185C;ENSP00000423112:R1185C;ENSP00000420918:R1185C;ENSP00000426172:R1185C;ENSP00000423045:R1185C;ENSP00000427173:R1162C;ENSP00000426098:R1185C;ENSP00000425698:R1185C;ENSP00000426232:R1185C;ENSP00000423317:R1185C;ENSP00000350979:R1162C;ENSP00000352011:R1185C;ENSP00000414388:R1185C;ENSP00000423155:R1185C;ENSP00000422268:R1185C;ENSP00000421518:R1185C	ENSP00000339302:R1162C	R	+	1	0	CACNA1G	46032082	0.985000	0.35326	1.000000	0.80357	0.563000	0.35712	1.947000	0.40293	1.288000	0.44600	0.561000	0.74099	CGC	CACNA1G	-	NULL		0.682	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	C	NM_018896		48677083	1	no_errors	ENST00000359106	ensembl	human	known	70_37	missense	SNP	0.979	T	T	48677083	C	T	48677083	3	4	59	1	0	0	0	0	1	0	0	0	2549	884	31	1	3619	1	CACNA1G	17	48677083	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	19120877	48677083	32518127	108	9227										
ZNF532	55205	genome.wustl.edu	37	chr18	56587446	56587446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	acagacggagcgtgcgcatcGaagtaacgtgcaaccattgt	12	10	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr18:56587446G>A	ENST00000336078.4	+	4	2703	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	ZNF532_ENST00000591808.1_Missense_Mutation_p.E643K|ZNF532_ENST00000591083.1_Missense_Mutation_p.E643K|ZNF532_ENST00000591230.1_Missense_Mutation_p.E643K|ZNF532_ENST00000589288.1_Missense_Mutation_p.E643K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	643					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.E643K(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CGTGCGCATCGAAGTAACGTG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											79	66	70					18																	56587446		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1927G>A	18.37:g.56587446G>A	ENSP00000338217:p.Glu643Lys		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E643K	ENST00000336078.4	37	c.1927	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	-	16.98	3.270596	0.59540	.	.	ENSG00000074657	ENST00000336078	T	0.36340	1.26	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.54965	1.715	0.80722	D	1	P	0.45957	0.869	B	0.33690	0.168	T	0.18903	-1.0322	10	0.48119	T	0.1	-20.3296	15.7689	0.78149	0.0:0.0:0.8625:0.1375	.	643	Q9HCE3	ZN532_HUMAN	K	643	ENSP00000338217:E643K	ENSP00000338217:E643K	E	+	1	0	ZNF532	54738426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	1.414000	0.47017	0.544000	0.68410	GAA	ZNF532	-	NULL		0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	G	NM_018181		56587446	1	no_errors	ENST00000336078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56587446	G	A	56587446	3	1	59	1	0	0	0	0	1	0	0	0	18002	1059	37	1	1929	1	ZNF532	18	56587446	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08		56587446	21489802	109	9228										
SERPINB11	89778	genome.wustl.edu	37	chr18	61390278	61390278	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tcatgagtggacaagctcttCtaacatgatggaaagagaag	11	6	3	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr18:61390278C>G	ENST00000382749.5	+	0	1069				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S73C(1)|p.S275C(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ACAAGCTCTTCTAACATGATG	0.423																																					Ovarian(27;496 784 5942 8975 23930)												2	Substitution - Missense(2)	cervix(2)											39	35	37					18																	61390278		1876	4121	5997			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390278C>G			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S100C	ENST00000382749.5	37	c.299		18	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795484	0.16327	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;D;D	0.84730	-1.8;-1.89;-1.8	5.05	0.928	0.19443	Serpin domain (3);	0.932601	0.08992	N	0.864250	D	0.87124	0.6099	M	0.72894	2.215	0.09310	N	1	P;D;D;D;D	0.58620	0.954;0.975;0.975;0.979;0.983	P;P;P;P;P	0.54499	0.54;0.639;0.54;0.639;0.754	T	0.75048	-0.3455	10	0.72032	D	0.01	.	4.9521	0.14019	0.4359:0.3805:0.11:0.0736	.	100;73;188;275;275	F5GWT8;F5GY69;Q96P15-2;F5GYW9;Q96P15	.;.;.;.;SPB11_HUMAN	C	275;73;100	ENSP00000441497:S275C;ENSP00000440795:S73C;ENSP00000441708:S100C	ENSP00000421854:S275C	S	+	2	0	SERPINB11	59541258	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.307000	0.19296	0.609000	0.30018	-0.169000	0.13324	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.423	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61390278	1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	0.000	G	G	61390278	C	G	61390278	1	3	59	0	1	0	0	0	0	0	0	0	14128	913	32	1		1	SERPINB11	18	61390278	RNA	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	4802832	61390278	16686970	110	9229										
GADD45B	4616	genome.wustl.edu	37	chr19	2476585	2476585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tggccgctcagcgccaggatCgcctcacagtgggggtgtac	15	13	2	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:2476585C>T	ENST00000215631.4	+	2	335	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	GADD45B_ENST00000587345.1_Missense_Mutation_p.R35C	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	35					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R35C(1)		cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCAGGATCGCCTCACAGT	0.667											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											70	63	65					19																	2476585		2203	4300	6503	SO:0001583	missense	4616			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.103C>T	19.37:g.2476585C>T	ENSP00000215631:p.Arg35Cys	603	A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R35C	ENST00000215631.4	37	c.103	CCDS32868.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524544	0.64747	.	.	ENSG00000099860	ENST00000215631	T	0.59502	0.26	5.3	4.26	0.50523	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.161263	0.56097	D	0.000028	T	0.28466	0.0704	N	0.02379	-0.575	0.53005	D	0.999965	B	0.11235	0.004	B	0.08055	0.003	T	0.13176	-1.0519	10	0.45353	T	0.12	.	7.1611	0.25664	0.0:0.8135:0.0:0.1865	.	35	O75293	GA45B_HUMAN	C	35	ENSP00000215631:R35C	ENSP00000215631:R35C	R	+	1	0	GADD45B	2427585	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.843000	0.39259	2.473000	0.83533	0.491000	0.48974	CGC	GADD45B	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.667	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45B	HGNC	protein_coding	OTTHUMT00000451337.1	C	NM_015675		2476585	1	no_errors	ENST00000215631	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2476585	C	T	2476585	3	4	59	1	0	0	0	0	1	0	0	0	6200	884	31	1	109	1	GADD45B	19	2476585	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		2476585	56652398	111	9230										
LYL1	4066	genome.wustl.edu	37	chr19	13211489	13211489	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	accctcagccaggtccagctCacagtggcttggtctccgct	10	16	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:13211489C>G	ENST00000264824.4	-	3	769	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	137					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E137Q(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			AGGTCCAGCTCACAGTGGCTT	0.562			T	TRB@	T-ALL																																			Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	1	Substitution - Missense(1)	cervix(1)											239	228	232					19																	13211489		2203	4300	6503	SO:0001583	missense	4066				CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.409G>C	19.37:g.13211489C>G	ENSP00000264824:p.Glu137Gln		O76102	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E137Q	ENST00000264824.4	37	c.409	CCDS12292.1	19	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878393	0.72294	.	.	ENSG00000104903	ENST00000264824	D	0.97959	-4.63	4.32	4.32	0.51571	.	0.000000	0.56097	D	0.000029	D	0.97958	0.9328	L	0.59436	1.845	0.30458	N	0.774624	D	0.76494	0.999	D	0.66716	0.946	D	0.96025	0.9012	10	0.62326	D	0.03	-21.9625	14.0828	0.64937	0.0:1.0:0.0:0.0	.	137	P12980	LYL1_HUMAN	Q	137	ENSP00000264824:E137Q	ENSP00000264824:E137Q	E	-	1	0	LYL1	13072489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	2.114000	0.64651	0.561000	0.74099	GAG	LYL1	-	NULL		0.562	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYL1	HGNC	protein_coding	OTTHUMT00000452827.1	C	NM_005583		13211489	-1	no_errors	ENST00000264824	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13211489	C	G	13211489	3	3	59	1	0	0	0	0	1	0	0	0	9129	835	29	1	441	1	LYL1	19	13211489	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	10734904	13211489	45917494	112	9231										
PKN1	5585	genome.wustl.edu	37	chr19	14554355	14554355	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agccgcgtggcgggcctggaGaagcagttggccattgagct	17	10	0	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:14554355G>A	ENST00000242783.6	+	3	561	c.396G>A	c.(394-396)gaG>gaA	p.E132E	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Silent_p.E138E	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	132					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E132E(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGGGCCTGGAGAAGCAGTTGG	0.647																																					NSCLC(185;2539 2965 10733 52867)												1	Substitution - coding silent(1)	cervix(1)											82	96	91					19																	14554355		2200	4300	6500	SO:0001819	synonymous_variant	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.396G>A	19.37:g.14554355G>A			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E138	ENST00000242783.6	37	c.414	CCDS42513.1	19																																																																																			PKN1	-	pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.647	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	G	NM_002741, NM_213560		14554355	1	no_errors	ENST00000342216	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14554355	G	A	14554355	2	1	59	1	0	0	0	0	0	0	0	1	12003	933	33	1		1	PKN1	19	14554355	Silent	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	1342866	14554355	44574628	113	9232										
GLT25D1	79709	genome.wustl.edu	37	chr19	17678289	17678289	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gctgagaacaagacggtggtCgcccccatgctggattcccg	13	13	0	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:17678289C>T	ENST00000252599.4	+	4	684	c.564C>T	c.(562-564)gtC>gtT	p.V188V	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	188					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)	p.V188V(1)									AGACGGTGGTCGCCCCCATGC	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											90	72	78					19																	17678289		2203	4300	6503	SO:0001819	synonymous_variant	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.564C>T	19.37:g.17678289C>T			Q8NC64	Silent	SNP	pfam_Glyco_trans_25	p.V188	ENST00000252599.4	37	c.564	CCDS12363.1	19																																																																																			GLT25D1	-	NULL		0.582	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17678289	1	no_errors	ENST00000252599	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17678289	C	T	17678289	2	4	59	1	0	0	0	0	0	0	0	1	6485	871	31	1		1	GLT25D1	19	17678289	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	3123934	17678289	41450694	114	9233										
ELL	8178	genome.wustl.edu	37	chr19	18557290	18557290	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gaggagatggctgcgtacttCctgaaacaggagagaggggc	17	7	0	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:18557290C>T	ENST00000262809.4	-	10	1604	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Splice_Site_p.L378L	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	511					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.L511L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTGCGTACTTCCTGAAACAGG	0.637			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	1	Substitution - coding silent(1)	cervix(1)											46	43	44					19																	18557290		2203	4300	6503	SO:0001630	splice_region_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1533-1G>A	19.37:g.18557290C>T				Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L511	ENST00000262809.4	37	c.1533	CCDS12380.1	19																																																																																			ELL	-	NULL		0.637	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532	Silent	18557290	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	silent	SNP	0.884	T	T	18557290	C	T	18557290	5	4	59	1	0	0	0	0	0	0	1	0	5074	869	30	1	344	1	ELL	19	18557290	Splice_Site	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	879001	18557290	40571693	115	9234										
SCGBL	284402	genome.wustl.edu	37	chr19	35085427	35085427	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cccagctggacgctgcagatCagagccagcagaagagcaca	12	13	1	4			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:35085427C>T	ENST00000601241.1	-	2	2142	c.42G>A	c.(40-42)ctG>ctA	p.L14L	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.L14L			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	14						extracellular region (GO:0005576)		p.L14L(1)									CGCTGCAGATCAGAGCCAGCA	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											67	60	62					19																	35085427		2203	4300	6503	SO:0001819	synonymous_variant	284402			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"Secretoglobins"	27616	protein-coding gene	gene with protein product		615063	"secretoglobin-like"	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.42G>A	19.37:g.35085427C>T				Silent	SNP	pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	p.L14	ENST00000601241.1	37	c.42	CCDS32989.1	19																																																																																			SCGB2B2	-	pfam_Uteroglobin-like_superfam		0.597	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2B2	HGNC	protein_coding	OTTHUMT00000461457.2	C	NM_001025591		35085427	-1	no_errors	ENST00000379204	ensembl	human	known	70_37	silent	SNP	0.093	T	T	35085427	C	T	35085427	2	4	59	1	0	0	0	0	0	0	0	1	13932	813	29	1		1	SCGBL	19	35085427	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	16528137	35085427	24043556	116	9235										
RTN2	6253	genome.wustl.edu	37	chr19	45997610	45997610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggcctggggtgtcccagagcCcggactgagctggggagtca	18	11	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:45997610C>A	ENST00000245923.4	-	4	863	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.G210C|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000456399.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	210					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.G210C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTCCCAGAGCCCGGACTGAGC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											54	49	51					19																	45997610		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.628G>T	19.37:g.45997610C>A	ENSP00000245923:p.Gly210Cys		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.G210C	ENST00000245923.4	37	c.628	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587415	0.86851	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.51325	0.72;0.71	5.16	-5.63	0.02474	.	0.951433	0.08724	N	0.903034	T	0.34221	0.0890	N	0.24115	0.695	0.09310	N	0.999996	D;D	0.63880	0.993;0.983	P;P	0.53360	0.724;0.533	T	0.25710	-1.0124	10	0.52906	T	0.07	-0.4969	1.2584	0.01996	0.1271:0.247:0.2526:0.3733	.	210;210	O75298-2;O75298	.;RTN2_HUMAN	C	210	ENSP00000345127:G210C;ENSP00000245923:G210C	ENSP00000245923:G210C	G	-	1	0	RTN2	50689450	0.000000	0.05858	0.001000	0.08648	0.718000	0.41266	-1.487000	0.02310	-0.606000	0.05746	0.563000	0.77884	GGC	RTN2	-	NULL		0.607	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	C	NM_005619		45997610	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45997610	C	A	45997610	3	1	59	1	0	0	0	0	1	0	0	0	13756	623	22	4	1041	4	RTN2	19	45997610	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	10912183	45997610	13131373	117	9236										
EML2	24139	genome.wustl.edu	37	chr19	46116846	46116846	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	caggtgaactttgccaaagtCatcagctgaagccagcaact	9	11	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:46116846C>A	ENST00000245925.3	-	18	1827	c.1777G>T	c.(1777-1779)Gac>Tac	p.D593Y	EML2_ENST00000587152.1_Missense_Mutation_p.D794Y|EML2_ENST00000589876.1_Missense_Mutation_p.D593Y|EML2_ENST00000536630.1_Missense_Mutation_p.D740Y	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	593	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.D593Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TTGCCAAAGTCATCAGCTGAA	0.587																																																	1	Substitution - Missense(1)	cervix(1)											142	119	127					19																	46116846		2203	4300	6503	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1777G>T	19.37:g.46116846C>A	ENSP00000245925:p.Asp593Tyr		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D794Y	ENST00000245925.3	37	c.2380	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271020	0.80469	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.29917	1.55;2.74	4.75	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.987	T	0.61247	-0.7101	10	0.48119	T	0.1	-39.2728	15.6448	0.77039	0.0:1.0:0.0:0.0	.	759;740;593	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	Y	740;593;751	ENSP00000442365:D740Y;ENSP00000245925:D593Y	ENSP00000245925:D593Y	D	-	1	0	EML2	50808686	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.251000	0.78297	2.653000	0.90120	0.563000	0.77884	GAC	EML2	-	superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	C	NM_012155		46116846	-1	no_errors	ENST00000587152	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46116846	C	A	46116846	3	1	59	1	0	0	0	0	1	0	0	0	5109	826	29	3	180	3	EML2	19	46116846	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	119236	46116846	13012137	118	9237										
FGF21	26291	genome.wustl.edu	37	chr19	49259545	49259545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	caggactgtgggtttctgtgCtggctggtcttctgctggga	16	8	3	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:49259545C>T	ENST00000593756.1	+	2	624	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	FUT1_ENST00000310160.3_5'Flank|FUT1_ENST00000601931.1_5'Flank|FGF21_ENST00000222157.3_Silent_p.L18L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	18					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.L18L(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGTTTCTGTGCTGGCTGGTCT	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											75	57	63					19																	49259545		2203	4300	6503	SO:0001819	synonymous_variant	26291			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.52C>T	19.37:g.49259545C>T			Q8N683	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF	p.L18	ENST00000593756.1	37	c.52	CCDS12734.1	19																																																																																			FGF21	-	superfamily_Cytokine_IL1-like,pirsf_Fibroblast_GF_15/19/21		0.627	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF21	HGNC	protein_coding	OTTHUMT00000466200.1	C			49259545	1	no_errors	ENST00000222157	ensembl	human	known	70_37	silent	SNP	0.763	T	T	49259545	C	T	49259545	2	4	59	1	0	0	0	0	0	0	0	1	5868	796	28	4		4	FGF21	19	49259545	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	3142699	49259545	9869438	119	9238										
MYH14	79784	genome.wustl.edu	37	chr19	50747551	50747551	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tttggcaacattgccttgaaGagagaacggaacaccgatca	10	9	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:50747551G>C	ENST00000596571.1	+	9	1143	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	MYH14_ENST00000425460.1_Missense_Mutation_p.K389N|MYH14_ENST00000440075.2_Missense_Mutation_p.K389N|MYH14_ENST00000262269.8_Missense_Mutation_p.K389N|MYH14_ENST00000376970.2_Missense_Mutation_p.K381N|MYH14_ENST00000601313.1_Missense_Mutation_p.K389N|MYH14_ENST00000598205.1_Missense_Mutation_p.K389N			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	381	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K381N(1)|p.K389N(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTGCCTTGAAGAGAGAACGGA	0.627																																																	2	Substitution - Missense(2)	cervix(2)											93	97	95					19																	50747551		2141	4243	6384	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1143G>C	19.37:g.50747551G>C	ENSP00000472819:p.Lys381Asn		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K389N	ENST00000596571.1	37	c.1167	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514461	0.27123	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	3.42	2.38	0.29361	Myosin head, motor domain (2);	.	.	.	.	D	0.91583	0.7341	M	0.81341	2.54	0.36343	D	0.859574	D;D;D	0.69078	0.997;0.981;0.989	D;D;D	0.65323	0.934;0.917;0.923	D	0.92627	0.6113	9	0.87932	D	0	.	9.0491	0.36365	0.1128:0.0:0.8871:0.0	.	389;381;389	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	N	381;389;381;389;381;389	ENSP00000406273:K389N;ENSP00000366169:K381N;ENSP00000407879:K389N;ENSP00000262269:K389N	ENSP00000262269:K389N	K	+	3	2	MYH14	55439363	1.000000	0.71417	0.010000	0.14722	0.018000	0.09664	2.697000	0.47060	1.026000	0.39733	0.462000	0.41574	AAG	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	G	NM_024729		50747551	1	no_errors	ENST00000262269	ensembl	human	known	70_37	missense	SNP	0.986	C	C	50747551	G	C	50747551	3	2	59	1	0	0	0	0	1	0	0	0	10056	933	33	1	1205	1	MYH14	19	50747551	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	1488006	50747551	8381432	120	9239										
PPP2R1A	5518	genome.wustl.edu	37	chr19	52714601	52714601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ggccatctcacacgagcactCgccctctgacctggaggcgc	11	17	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:52714601C>T	ENST00000322088.6	+	4	417	c.359C>T	c.(358-360)tCg>tTg	p.S120L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S65L|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	120	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S120L(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACGAGCACTCGCCCTCTGAC	0.662			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	1	Substitution - Missense(1)	cervix(1)											60	63	62					19																	52714601		2203	4300	6503	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.359C>T	19.37:g.52714601C>T	ENSP00000324804:p.Ser120Leu		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S120L	ENST00000322088.6	37	c.359	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960089	0.92791	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35789	1.29;1.29	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.52532	D	0.000074	T	0.48822	0.1521	M	0.91090	3.175	0.80722	D	1	D;P;P	0.57571	0.98;0.93;0.93	B;B;B	0.41619	0.361;0.178;0.178	T	0.67063	-0.5765	10	0.72032	D	0.01	-11.216	15.0187	0.71609	0.0:1.0:0.0:0.0	.	65;120;120	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	110;120;65	ENSP00000324804:S120L;ENSP00000415067:S65L	ENSP00000324804:S120L	S	+	2	0	PPP2R1A	57406413	1.000000	0.71417	0.965000	0.40720	0.901000	0.52897	5.108000	0.64609	2.482000	0.83794	0.655000	0.94253	TCG	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.662	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	C	NM_014225		52714601	1	no_errors	ENST00000322088	ensembl	human	known	70_37	missense	SNP	0.999	T	T	52714601	C	T	52714601	3	4	59	1	0	0	0	0	1	0	0	0	12409	893	31	1	373	1	PPP2R1A	19	52714601	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	1967050	52714601	6414382	121	9240										
CST2	1470	genome.wustl.edu	37	chr20	23807192	23807192	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctcatcattgaggtctgcatCatagatgccaccctcgatta	7	12	4	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:23807192C>T	ENST00000304725.2	-	1	176	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.D36N(1)		breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						AGGTCTGCATCATAGATGCCA	0.597																																					Pancreas(193;496 3017 22514 29918)												1	Substitution - Missense(1)	cervix(1)											115	93	100					20																	23807192		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.106G>A	20.37:g.23807192C>T	ENSP00000307540:p.Asp36Asn		Q9UCQ7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.D36N	ENST00000304725.2	37	c.106	CCDS13161.1	20	.	.	.	.	.	.	.	.	.	.	C	9.165	1.019621	0.19355	.	.	ENSG00000170369	ENST00000304725	T	0.27720	1.65	2.22	1.2	0.21068	Proteinase inhibitor I25, cystatin (2);	0.890365	0.09588	N	0.781875	T	0.27384	0.0672	L	0.52011	1.625	0.09310	N	1	B	0.13145	0.007	B	0.23574	0.047	T	0.31779	-0.9931	10	0.36615	T	0.2	.	6.8286	0.23897	0.0:0.7094:0.2906:0.0	.	36	P09228	CYTT_HUMAN	N	36	ENSP00000307540:D36N	ENSP00000307540:D36N	D	-	1	0	CST2	23755192	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.134000	0.15932	0.244000	0.21351	0.298000	0.19748	GAT	CST2	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.597	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	HGNC	protein_coding	OTTHUMT00000078352.2	C			23807192	-1	no_errors	ENST00000304725	ensembl	human	known	70_37	missense	SNP	0.001	T	T	23807192	C	T	23807192	3	4	59	1	0	0	0	0	1	0	0	0	3977	826	29	1	331	1	CST2	20	23807192	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		23807192	39218328	122	9241										
MYH7B	57644	genome.wustl.edu	37	chr20	33577924	33577927	+	Frame_Shift_Del	DEL	TGAG	TGAG	-													0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aggctcctggcgactctctaTgagaattatgcgggctcctg							TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	TGAG	TGAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:33577924_33577927delTGAG	ENST00000262873.7	+	19	2093_2096	c.2001_2004delTGAG	c.(1999-2004)tatgagfs	p.YE667fs	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	625	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACTCTCTATGAGAATTATGCGG	0.554																																																	0																																										SO:0001589	frameshift_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2001_2004delTGAG	20.37:g.33577924_33577927delTGAG	ENSP00000262873:p.Tyr667fs		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y667fs	ENST00000262873.7	37	c.2001_2004	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.554	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	TGAG	NM_020884		33577927	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	frame_shift_del	DEL	0.997:1.000:1.000:1.000	-	-	33577927	TGAG	-	33577924	7	5	59	1	0	1	0	1	0	0	0	0	10063	1471	51	0	2075	0	MYH7B	20	33577924	Frame_Shift_Del	DEL	TGAG	TCGA-DS-A0VK-01A-21D-A10S-08	9770732	33577924	29447596	123	9242										
CHD6	84181	genome.wustl.edu	37	chr20	40084593	40084593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	cctttccggagtaggtcctcCacctccatttttgagagctg	9	13	0	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:40084593C>T	ENST00000373233.3	-	19	3033	c.2856G>A	c.(2854-2856)gtG>gtA	p.V952V	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	952	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.V952V(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGGTCCTCCACCTCCATTT	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											184	172	176					20																	40084593		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2856G>A	20.37:g.40084593C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V952	ENST00000373233.3	37	c.2856	CCDS13317.1	20																																																																																			CHD6	-	pfscan_Helicase_C		0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40084593	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	silent	SNP	0.991	T	T	40084593	C	T	40084593	2	4	59	1	0	0	0	0	0	0	0	1	3334	581	21	4		4	CHD6	20	40084593	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	6506669	40084593	22940927	124	9243										
MYT1	4661	genome.wustl.edu	37	chr20	62853251	62853251	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gctggttttttgcagtcagaGccagcagcccattcttttgc	10	11	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:62853251G>C	ENST00000328439.1	+	14	2611	c.2247G>C	c.(2245-2247)gaG>gaC	p.E749D	MYT1_ENST00000536311.1_Missense_Mutation_p.E776D|MYT1_ENST00000360149.4_Missense_Mutation_p.E451D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E749D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGCAGTCAGAGCCAGCAGCCC	0.567																																					GBM(59;481 1041 20555 21139 33705)												1	Substitution - Missense(1)	cervix(1)											42	43	43					20																	62853251		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2247G>C	20.37:g.62853251G>C	ENSP00000327465:p.Glu749Asp		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E776D	ENST00000328439.1	37	c.2328	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693823	0.68386	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.42513	0.97;0.97;0.97	5.12	5.12	0.69794	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.32530	0.975	0.53005	D	0.999962	B;B;D	0.69078	0.381;0.048;0.997	B;B;D	0.79108	0.23;0.07;0.992	T	0.44003	-0.9356	10	0.22109	T	0.4	-25.3392	18.5518	0.91068	0.0:0.0:1.0:0.0	.	776;749;451	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	D	451;749;776	ENSP00000353269:E451D;ENSP00000327465:E749D;ENSP00000442412:E776D	ENSP00000327465:E749D	E	+	3	2	MYT1	62323695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.930000	0.70104	2.396000	0.81511	0.655000	0.94253	GAG	MYT1	-	pfam_Myelin_TF		0.567	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	G	NM_004535		62853251	1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62853251	G	C	62853251	3	2	59	1	0	0	0	0	1	0	0	0	10129	962	34	4	2293	4	MYT1	20	62853251	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	22768658	62853251	172269	125	9244										
NCAM2	4685	genome.wustl.edu	37	chr21	22746206	22746206	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ctggacggccgtatcgaagtCaaagggcagcatggaagctc	14	10	1	0			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr21:22746206C>T	ENST00000400546.1	+	9	1317	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V	NCAM2_ENST00000284894.7_Silent_p.V214V|NCAM2_ENST00000535285.1_Silent_p.V381V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	356	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V356V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTATCGAAGTCAAAGGGCAGC	0.423																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											140	131	134					21																	22746206		1926	4122	6048	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1068C>T	21.37:g.22746206C>T			A8MQ06|B7Z841|Q7Z7F2	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,prints_Neural_cell_adh	p.V356	ENST00000400546.1	37	c.1068	CCDS42910.1	21																																																																																			NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.423	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22746206	1	no_errors	ENST00000400546	ensembl	human	known	70_37	silent	SNP	0.999	T	T	22746206	C	T	22746206	2	4	59	1	0	0	0	0	0	0	0	1	10227	813	29	1		1	NCAM2	21	22746206	Silent	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		22746206	25383689	126	9245										
LCA5L	150082	genome.wustl.edu	37	chr21	40795190	40795190	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	tcatattttcctatagctttCaaatgcctaagctgaagttg	6	8	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr21:40795190C>G	ENST00000358268.2	-	5	1077	c.549G>C	c.(547-549)ttG>ttC	p.L183F	LCA5L_ENST00000380671.2_Missense_Mutation_p.L183F|LCA5L_ENST00000485895.2_Missense_Mutation_p.L183F|LCA5L_ENST00000288350.3_Missense_Mutation_p.L183F			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	183								p.L183F(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTATAGCTTTCAAATGCCTAA	0.289																																																	2	Substitution - Missense(2)	cervix(2)											82	78	80					21																	40795190		2202	4300	6502	SO:0001583	missense	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.549G>C	21.37:g.40795190C>G	ENSP00000351008:p.Leu183Phe		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.L183F	ENST00000358268.2	37	c.549	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804917	0.50315	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.95	4.06	0.47325	.	0.266630	0.26895	N	0.021958	D	0.83128	0.5187	M	0.61703	1.905	0.30124	N	0.805455	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.78460	-0.2195	10	0.56958	D	0.05	-3.6865	5.7438	0.18108	0.0:0.6247:0.1451:0.2302	.	183;183	C9JFB6;O95447	.;LCA5L_HUMAN	F	183	ENSP00000288350:L183F;ENSP00000370046:L183F;ENSP00000351008:L183F;ENSP00000404521:L183F	ENSP00000288350:L183F	L	-	3	2	LCA5L	39717060	0.327000	0.24678	1.000000	0.80357	0.981000	0.71138	0.152000	0.16302	1.206000	0.43276	0.655000	0.94253	TTG	LCA5L	-	NULL		0.289	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	C	NM_152505		40795190	-1	no_errors	ENST00000288350	ensembl	human	known	70_37	missense	SNP	0.997	G	G	40795190	C	G	40795190	3	3	59	1	0	0	0	0	1	0	0	0	8677	825	29	1	1487	1	LCA5L	21	40795190	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	18048984	40795190	7334705	127	9246										
UBASH3A	53347	genome.wustl.edu	37	chr21	43867194	43867194	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccctgggcatgtgcttctgtGaagaaaataaagaggaagga	13	6	1	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr21:43867194G>A	ENST00000319294.6	+	15	1907	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	UBASH3A_ENST00000291535.6_Missense_Mutation_p.E588K|UBASH3A_ENST00000398367.1_Silent_p.V515V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	626	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E626K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGCTTCTGTGAAGAAAATAA	0.463																																																	1	Substitution - Missense(1)	cervix(1)											120	126	124					21																	43867194		2203	4300	6503	SO:0001583	missense	53347			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1876G>A	21.37:g.43867194G>A	ENSP00000317327:p.Glu626Lys		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.E626K	ENST00000319294.6	37	c.1876	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241963	0.79912	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.35605	1.3;1.3	4.46	3.55	0.40652	.	0.000000	0.64402	D	0.000017	T	0.50103	0.1596	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.49204	-0.8964	10	0.59425	D	0.04	-24.5556	10.1729	0.42922	0.0983:0.0:0.9017:0.0	.	588;626	P57075-2;P57075	.;UBS3A_HUMAN	K	588;626	ENSP00000291535:E588K;ENSP00000317327:E626K	ENSP00000291535:E588K	E	+	1	0	UBASH3A	42740263	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	3.334000	0.52097	2.296000	0.77279	0.563000	0.77884	GAA	UBASH3A	-	NULL		0.463	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	HGNC	protein_coding	OTTHUMT00000195382.1	G	NM_001001895		43867194	1	no_errors	ENST00000319294	ensembl	human	known	70_37	missense	SNP	0.987	A	A	43867194	G	A	43867194	3	1	59	1	0	0	0	0	1	0	0	0	16870	1291	45	1	1934	1	UBASH3A	21	43867194	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	3072004	43867194	4262701	128	9247										
RAB36	9609	genome.wustl.edu	37	chr22	23495275	23495275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ccaccattggggtggactttGaaattgagcgctttgagatt	12	7	0	3			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr22:23495275G>A	ENST00000263116.2	+	5	521	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RAB36_ENST00000341989.4_Missense_Mutation_p.E139K	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	161					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.E161K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGTGGACTTTGAAATTGAGCG	0.507																																																	1	Substitution - Missense(1)	cervix(1)											233	220	225					22																	23495275		2203	4300	6503	SO:0001583	missense	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.481G>A	22.37:g.23495275G>A	ENSP00000263116:p.Glu161Lys		Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E161K	ENST00000263116.2	37	c.481	CCDS13805.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.144158	0.94603	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.79033	-1.23;-1.23	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	N	0.10760	0.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.73385	-0.3999	10	0.17369	T	0.5	-30.7518	17.3342	0.87275	0.0:0.0:1.0:0.0	.	139;161	O95755-2;O95755	.;RAB36_HUMAN	K	161;139	ENSP00000263116:E161K;ENSP00000343494:E139K	ENSP00000263116:E161K	E	+	1	0	RAB36	21825275	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	8.944000	0.92980	2.778000	0.95560	0.655000	0.94253	GAA	RAB36	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.507	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1	G	NM_004914		23495275	1	no_errors	ENST00000263116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23495275	G	A	23495275	3	1	59	1	0	0	0	0	1	0	0	0	12956	1291	45	1	499	1	RAB36	22	23495275	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08		23495275	27809291	129	9248										
ZNF645	158506	genome.wustl.edu	37	chrX	22291584	22291584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	agttcgtcctcatattgctcCgccacaaactgaaatctctg	6	13	2	1			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:22291584C>T	ENST00000323684.1	+	1	520	c.476C>T	c.(475-477)cCg>cTg	p.P159L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	159					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P159L(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CATATTGCTCCGCCACAAACT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											81	80	81					X																	22291584		2203	4300	6503	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.476C>T	X.37:g.22291584C>T	ENSP00000323348:p.Pro159Leu		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.P159L	ENST00000323684.1	37	c.476	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	C	8.386	0.838568	0.16891	.	.	ENSG00000175809	ENST00000323684	T	0.33654	1.4	3.57	1.79	0.24919	.	0.180731	0.34507	U	0.003909	T	0.25158	0.0611	L	0.42245	1.32	0.09310	N	1	B	0.28971	0.229	B	0.20577	0.03	T	0.14200	-1.0481	10	0.49607	T	0.09	.	7.1568	0.25643	0.0:0.759:0.0:0.241	.	159	Q8N7E2	ZN645_HUMAN	L	159	ENSP00000323348:P159L	ENSP00000323348:P159L	P	+	2	0	ZNF645	22201505	0.528000	0.26314	0.001000	0.08648	0.005000	0.04900	2.039000	0.41193	0.354000	0.24105	0.600000	0.82982	CCG	ZNF645	-	NULL		0.463	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	HGNC	protein_coding	OTTHUMT00000056037.1	C	NM_152577		22291584	1	no_errors	ENST00000323684	ensembl	human	known	70_37	missense	SNP	0.004	T	T	22291584	C	T	22291584	3	4	59	1	0	0	0	0	1	0	0	0	18091	652	23	2	478	2	ZNF645	23	22291584	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08		22291584	132978976	130	9249										
KDM6A	7403	genome.wustl.edu	37	chrX	44942757	44942757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	ttcctgcttttgtgcgtgtcGtatcagcaggaaatcttcta	9	9	3	0	rs367925808		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:44942757G>A	ENST00000377967.4	+	23	3378	c.3337G>A	c.(3337-3339)Gta>Ata	p.V1113I	KDM6A_ENST00000382899.4_Missense_Mutation_p.V1120I|KDM6A_ENST00000536777.1_Missense_Mutation_p.V1068I|KDM6A_ENST00000543216.1_Missense_Mutation_p.V1034I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1113	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.V1113I(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGTGCGTGTCGTATCAGCAGG	0.418			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	7	Whole gene deletion(6)|Substitution - Missense(1)	oesophagus(2)|breast(2)|pancreas(2)|cervix(1)						G	ILE/VAL	0,3835		0,0,1632,571	154	112	126		3337	5.2	1	X		126	1,6727		0,1,2427,1872	no	missense	KDM6A	NM_021140.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	1113/1402	44942757	1,10562	2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3337G>A	X.37:g.44942757G>A	ENSP00000367203:p.Val1113Ile		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1120I	ENST00000377967.4	37	c.3358	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.448046|3.448046	0.63178|0.63178	0.0|0.0	1.49E-4|1.49E-4	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.057504	.|0.64402	.|D	.|0.000002	T|T	0.77089|0.77089	0.4079|0.4079	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|D;B;B;B;P	.|0.63046	.|0.992;0.148;0.322;0.308;0.545	.|P;B;B;B;B	.|0.59825	.|0.864;0.023;0.123;0.043;0.245	T|T	0.80072|0.80072	-0.1535|-0.1535	5|10	.|0.87932	.|D	.|0	-4.0996|-4.0996	17.96|17.96	0.89082|0.89082	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|752;1120;1068;1165;1113	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	H|I	710;755|810;1113;1068;1120;1034	.|ENSP00000367203:V1113I;ENSP00000437405:V1068I;ENSP00000372355:V1120I;ENSP00000443078:V1034I	.|ENSP00000334340:V810I	R|V	+|+	2|1	0|0	KDM6A|KDM6A	44827701|44827701	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	6.264000|6.264000	0.72527|0.72527	2.175000|2.175000	0.68902|0.68902	0.583000|0.583000	0.79449|0.79449	CGT|GTA	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom		0.418	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140		44942757	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44942757	G	A	44942757	3	1	59	1	0	0	0	0	1	0	0	0	8157	1145	40	2	3427	2	KDM6A	23	44942757	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	22651173	44942757	110327803	131	9250										
OTUD6A	139562	genome.wustl.edu	37	chrX	69282720	69282720	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	aggagagcatcttccaggctGagatgtcggagcacctggcc	14	11	1	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:69282720G>C	ENST00000338352.2	+	1	380	c.346G>C	c.(346-348)Gag>Cag	p.E116Q		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	116					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.E116Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTTCCAGGCTGAGATGTCGGA	0.622																																																	1	Substitution - Missense(1)	cervix(1)											25	21	22					X																	69282720		2187	4282	6469	SO:0001583	missense	139562			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.346G>C	X.37:g.69282720G>C	ENSP00000339389:p.Glu116Gln		B2RPB7	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E116Q	ENST00000338352.2	37	c.346	CCDS14395.1	X	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551306	0.27739	.	.	ENSG00000189401	ENST00000338352	T	0.52754	0.65	4.06	2.21	0.28008	.	0.114545	0.56097	N	0.000021	T	0.40645	0.1125	L	0.33245	0.995	0.23616	N	0.997285	P	0.36222	0.544	B	0.42851	0.4	T	0.27331	-1.0077	10	0.39692	T	0.17	.	11.0926	0.48125	0.0:0.3639:0.6361:0.0	.	116	Q7L8S5	OTU6A_HUMAN	Q	116	ENSP00000339389:E116Q	ENSP00000339389:E116Q	E	+	1	0	OTUD6A	69199445	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	3.766000	0.55280	0.461000	0.27071	0.556000	0.70494	GAG	OTUD6A	-	NULL		0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	G	NM_207320		69282720	1	no_errors	ENST00000338352	ensembl	human	known	70_37	missense	SNP	0.250	C	C	69282720	G	C	69282720	3	2	59	1	0	0	0	0	1	0	0	0	11340	1291	45	1	348	1	OTUD6A	23	69282720	Missense_Mutation	SNP	G	TCGA-DS-A0VK-01A-21D-A10S-08	24339963	69282720	85987840	132	9251										
CYSLTR1	10800	genome.wustl.edu	37	chrX	77528893	77528893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gcaatgcaccggaaaaagctCatggctgtcataaagaagat	10	8	2	2			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:77528893C>T	ENST00000373304.3	-	3	643	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	117					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGAAAAAGCTCATGGCTGTCA	0.408																																																	0													62	53	56					X																	77528893		2203	4298	6501	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.351G>A	X.37:g.77528893C>T	ENSP00000362401:p.Met117Ile		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.M117I	ENST00000373304.3	37	c.351	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	c	17.98	3.520430	0.64747	.	.	ENSG00000173198	ENST00000373304	T	0.61158	0.13	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	N	0.11870	0.19	0.40578	D	0.981363	D	0.69078	0.997	D	0.79108	0.992	T	0.53294	-0.8459	10	0.15066	T	0.55	.	13.8027	0.63212	0.0:1.0:0.0:0.0	.	117	Q9Y271	CLTR1_HUMAN	I	117	ENSP00000362401:M117I	ENSP00000362401:M117I	M	-	3	0	CYSLTR1	77415549	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.795000	0.69074	1.823000	0.53134	0.452000	0.29995	ATG	CYSLTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	C			77528893	-1	no_errors	ENST00000373304	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77528893	C	T	77528893	3	4	59	1	0	0	0	0	1	0	0	0	4206	826	29	1	666	1	CYSLTR1	23	77528893	Missense_Mutation	SNP	C	TCGA-DS-A0VK-01A-21D-A10S-08	8246173	77528893	77741667	133	9252										
ABCD1	215	genome.wustl.edu	37	chrX	153008476	153008476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.455223880597015	61	5.8174938171695e-20	3.58429717180245	4.99451245251161	3.23174335162516	4.22292404084654e-06	5.85176617088735e-05	44	gtgactggaaggacgtcctgTcgggtggcgagaagcagaga	18	7	0	3	rs201774661		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:153008476T>C	ENST00000218104.3	+	8	2215	c.1816T>C	c.(1816-1818)Tcg>Ccg	p.S606P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	606	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in ALD; decreased ATP-binding affinity). {ECO:0000269|PubMed:8040304}.|S -> P (in ALD; CALD, AMN and ALMD- types). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S606P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGTCCTGTCGGGTGGCGA	0.657																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM960043	ABCD1	M																																				SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1816T>C	X.37:g.153008476T>C	ENSP00000218104:p.Ser606Pro		Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.S606P	ENST00000218104.3	37	c.1816	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307005	0.81247	.	.	ENSG00000101986	ENST00000218104	D	0.99957	-8.99	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000009	D	0.99964	0.9986	H	0.99357	4.53	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	D	0.96145	0.9103	10	0.87932	D	0	-5.1669	13.4857	0.61364	0.0:0.0:0.0:1.0	.	606	P33897	ABCD1_HUMAN	P	606	ENSP00000218104:S606P	ENSP00000218104:S606P	S	+	1	0	ABCD1	152661670	1.000000	0.71417	0.058000	0.19502	0.765000	0.43378	5.967000	0.70403	1.827000	0.53221	0.350000	0.21858	TCG	ABCD1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	T	NM_000033		153008476	1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153008476	T	C	153008476	3	2	59	1	0	0	0	0	1	0	0	0	60	1667	58	5	1846	5	ABCD1	23	153008476	Missense_Mutation	SNP	T	TCGA-DS-A0VK-01A-21D-A10S-08	75479583	153008476	2262084	134	9253										
AHDC1	27245	genome.wustl.edu	37	chr1	27875174	27875174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gccgtctgctgcttcaccttCtgcggtgtgtagttggagat	13	10	3	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:27875174C>T	ENST00000247087.5	-	5	4049	c.3453G>A	c.(3451-3453)caG>caA	p.Q1151Q	AHDC1_ENST00000374011.2_Silent_p.Q1151Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1151							DNA binding (GO:0003677)	p.Q1151Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCTTCACCTTCTGCGGTGTGT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											87	81	83					1																	27875174		2203	4299	6502	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3453G>A	1.37:g.27875174C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.Q1151	ENST00000247087.5	37	c.3453	CCDS30652.1	1																																																																																			AHDC1	-	NULL		0.582	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	C			27875174	-1	no_errors	ENST00000247087	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27875174	C	T	27875174	2	4	60	1	0	0	0	0	0	0	0	1	412	912	32	1		1	AHDC1	1	27875174	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		27875174	221375447	1	9254										
IPO13	9670	genome.wustl.edu	37	chr1	44433064	44433064	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gccctgaacaagcactgcttCagcctcctgagcatgtggat	10	13	1	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:44433064C>T	ENST00000372343.3	+	19	3353	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	DPH2_ENST00000255108.3_5'Flank|IPO13_ENST00000372339.3_Silent_p.F115F|DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000412950.2_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	897					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F897F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGCACTGCTTCAGCCTCCTGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											65	64	65					1																	44433064		2203	4300	6503	SO:0001819	synonymous_variant	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2691C>T	1.37:g.44433064C>T			D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F897	ENST00000372343.3	37	c.2691	CCDS503.1	1																																																																																			IPO13	-	NULL		0.612	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	C	NM_014652		44433064	1	no_errors	ENST00000372343	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44433064	C	T	44433064	2	4	60	1	0	0	0	0	0	0	0	1	7814	825	29	1		1	IPO13	1	44433064	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	16557890	44433064	204817557	2	9255										
ATP5F1	515	genome.wustl.edu	37	chr1	112002183	112002183	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	catatatctgtgcagaacatGatgcgtcgaaaggaacaaga	10	7	1	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:112002183G>A	ENST00000369722.3	+	6	1224	c.618G>A	c.(616-618)atG>atA	p.M206I	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.M145I	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	206					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.M206I(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCAGAACATGATGCGTCGAA	0.423																																																	1	Substitution - Missense(1)	cervix(1)											89	91	90					1																	112002183		2203	4300	6503	SO:0001583	missense	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.618G>A	1.37:g.112002183G>A	ENSP00000358737:p.Met206Ile		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.M206I	ENST00000369722.3	37	c.618	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832340	0.16820	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.29142	1.58;1.58	4.85	4.85	0.62838	.	0.047998	0.85682	D	0.000000	T	0.10121	0.0248	L	0.45051	1.395	0.36170	D	0.848733	B;B	0.29162	0.235;0.235	B;B	0.25614	0.062;0.062	T	0.08207	-1.0733	10	0.15952	T	0.53	.	7.7762	0.29039	0.0861:0.2973:0.6166:0.0	.	206;206	Q08ET0;P24539	.;AT5F1_HUMAN	I	206;145	ENSP00000358737:M206I;ENSP00000420366:M145I	ENSP00000358737:M206I	M	+	3	0	ATP5F1	111803706	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	2.478000	0.45189	2.414000	0.81942	0.467000	0.42956	ATG	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt		0.423	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	G	NM_001688		112002183	1	no_errors	ENST00000369722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112002183	G	A	112002183	3	1	60	1	0	0	0	0	1	0	0	0	1153	1290	45	1	640	1	ATP5F1	1	112002183	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	67569119	112002183	137248438	3	9256										
DENND2C	163259	genome.wustl.edu	37	chr1	115142027	115142027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	taggtatgctgccaggtgaaCggatacagtgtagctaccac	12	9	0	1	rs548792563	byFrequency	TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:115142027C>T	ENST00000393274.1	-	16	2776	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P	DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.P660P	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	717	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P660P(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAGGTGAACGGATACAGTG	0.463													C|||	3	0.000599042	0	0	5008	,	,		14295	0		0	False		,,,				2504	0.0031																1	Substitution - coding silent(1)	cervix(1)											157	127	137					1																	115142027		2203	4300	6503	SO:0001819	synonymous_variant	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2151G>A	1.37:g.115142027C>T			B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P717	ENST00000393274.1	37	c.2151	CCDS58018.1	1																																																																																			DENND2C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.463	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115142027	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	silent	SNP	0.298	T	T	115142027	C	T	115142027	2	4	60	1	0	0	0	0	0	0	0	1	4440	523	19	2		2	DENND2C	1	115142027	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	3139844	115142027	134108594	4	9257										
FLG	2312	genome.wustl.edu	37	chr1	152278555	152278555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agtgcccatgaccagctctgTcttcttgatgggacctgggg	13	11	3	2	rs80221306	byFrequency	TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:152278555T>C	ENST00000368799.1	-	3	8842	c.8807A>G	c.(8806-8808)gAc>gGc	p.D2936G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2936	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGCTCTGTCTTCTTGATG	0.552									Ichthyosis																																								0								T	GLY/ASP	267,3373		3,261,1556	22	34	31		8807	1.3	0	1	dbSNP_131	31	809,7583		0,809,3387	no	missense	FLG	NM_002016.1	94	3,1070,4943	CC,CT,TT		9.6401,7.3352,8.9428	benign	2936/4062	152278555	1076,10956	1820	4196	6016	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8807A>G	1.37:g.152278555T>C	ENSP00000357789:p.Asp2936Gly		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D2936G	ENST00000368799.1	37	c.8807	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	7.089	0.571862	0.13623	0.073352	0.096401	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.29	1.29	0.21616	.	.	.	.	.	T	0.00815	0.0027	M	0.70595	2.14	0.80722	P	0.0	B	0.17852	0.024	B	0.10450	0.005	T	0.39375	-0.9617	8	0.22706	T	0.39	.	4.7721	0.13160	0.0:0.0:0.0:1.0	.	2936	P20930	FILA_HUMAN	G	2936	ENSP00000357789:D2936G	ENSP00000357789:D2936G	D	-	2	0	FLG	150545179	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.386000	0.07370	0.851000	0.35264	0.248000	0.18094	GAC	FLG	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	T	NM_002016		152278555	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.001	C	C	152278555	T	C	152278555	3	2	60	1	0	0	0	0	1	0	0	0	5940	1667	58	5	3382	5	FLG	1	152278555	Missense_Mutation	SNP	T	TCGA-DS-A0VL-01A-21D-A10S-08	37136528	152278555	96972066	5	9258										
S100A1	6271	genome.wustl.edu	37	chr1	153604234	153604234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agctagacgagaatggagacGgggaggtggacttccaggag	18	6	0	3	rs375726273		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:153604234G>A	ENST00000292169.1	+	3	315	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	S100A1_ENST00000368698.3_Missense_Mutation_p.G121R|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000469931.2_RNA|S100A1_ENST00000368696.3_3'UTR|S100A1_ENST00000469893.1_3'UTR|RP1-178F15.4_ENST00000607839.1_RNA|S100A13_ENST00000368699.1_Intron|S100A13_ENST00000491177.1_5'Flank|CHTOP_ENST00000368694.3_5'Flank|CHTOP_ENST00000403433.1_5'Flank	NM_006271.1	NP_006262.1	P23297	S10A1_HUMAN	S100 calcium binding protein A1	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762)	M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)	p.G68W(1)|p.G68R(1)		breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	GAATGGAGACGGGGAGGTGGA	0.542																																					Ovarian(74;601 1703 10548 31787)												2	Substitution - Missense(2)	cervix(1)|lung(1)						G	,ARG/GLY	0,4406		0,0,2203	431	399	410		,202	5.1	1	1		410	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	S100A1,S100A13	NM_001024210.1,NM_006271.1	,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,68/95	153604234	1,13005	2203	4300	6503	SO:0001583	missense	6271			BC014392	CCDS1047.1	1q21	2013-01-10	2001-11-28		ENSG00000160678	ENSG00000160678		"S100 calcium binding proteins", "EF-hand domain containing"	10486	protein-coding gene	gene with protein product		176940	"S100 calcium-binding protein A1"	S100A		1998503	Standard	NM_006271		Approved	S100-alpha	uc001fck.1	P23297	OTTHUMG00000037041	ENST00000292169.1:c.202G>A	1.37:g.153604234G>A	ENSP00000292169:p.Gly68Arg		B2R5D9|Q5T7Y3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G121R	ENST00000292169.1	37	c.361	CCDS1047.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.178466	0.94846	0.0	1.16E-4	ENSG00000160678	ENST00000368698;ENST00000292169	T;D	0.90197	1.83;-2.63	5.12	5.12	0.69794	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93035	0.7783	.	.	.	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	D	0.92736	0.6204	9	0.51188	T	0.08	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	68	P23297	S10A1_HUMAN	R	121;68	ENSP00000357687:G121R;ENSP00000292169:G68R	ENSP00000292169:G68R	G	+	1	0	S100A1	151870858	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.072000	0.76777	2.659000	0.90383	0.655000	0.94253	GGG	S100A1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.542	S100A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A1	HGNC	protein_coding	OTTHUMT00000089933.1	G	NM_006271		153604234	1	no_errors	ENST00000368698	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153604234	G	A	153604234	3	1	60	1	0	0	0	0	1	0	0	0	13801	1116	39	2	208	2	S100A1	1	153604234	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	1325679	153604234	95646387	6	9259										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156907208	156907208	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tgcagggaggctgtcaggctGaggggggctcatgggtgcct	20	8	2	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:156907208G>A	ENST00000361409.2	-	38	4895	c.4153C>T	c.(4153-4155)Cag>Tag	p.Q1385*	ARHGEF11_ENST00000487682.1_5'UTR|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000315174.8_Nonsense_Mutation_p.Q801*|ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.Q1425*	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1385					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1425*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTCAGGCTGAGGGGGGCTC	0.622																																																	1	Substitution - Nonsense(1)	cervix(1)											54	53	54					1																	156907208		2203	4300	6503	SO:0001587	stop_gained	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4153C>T	1.37:g.156907208G>A	ENSP00000354644:p.Gln1385*		D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.Q1425*	ENST00000361409.2	37	c.4273	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.297364	0.99655	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	.	.	.	5.33	4.39	0.52855	.	0.299782	0.24245	N	0.040227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.2986	13.9465	0.64089	0.0:0.0:0.8466:0.1534	.	.	.	.	X	1425;1385;801	.	ENSP00000313470:Q801X	Q	-	1	0	ARHGEF11	155173832	0.979000	0.34478	0.038000	0.18304	0.176000	0.22953	3.472000	0.53114	1.199000	0.43173	0.561000	0.74099	CAG	ARHGEF11	-	NULL		0.622	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156907208	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	nonsense	SNP	0.330	A	A	156907208	G	A	156907208	4	1	60	1	0	0	0	0	0	1	0	0	896	1299	45	1	427	1	ARHGEF11	1	156907208	Nonsense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	3302974	156907208	92343413	7	9260										
ADCY10	55811	genome.wustl.edu	37	chr1	167791359	167791359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tatgaattccaaacattcttCaaatgttctataaacaaaac	2	8	3	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:167791359C>G	ENST00000367851.4	-	30	4373	c.4189G>C	c.(4189-4191)Gaa>Caa	p.E1397Q	RP1-313L4.3_ENST00000451545.1_RNA|ADCY10_ENST00000367848.1_Missense_Mutation_p.E1305Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.E1244Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1397					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.E1397Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAACATTCTTCAAATGTTCTA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											130	122	125					1																	167791359		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4189G>C	1.37:g.167791359C>G	ENSP00000356825:p.Glu1397Gln		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.E1397Q	ENST00000367851.4	37	c.4189	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171480	0.57584	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.77229	-1.08;-1.08;-1.08	5.98	5.08	0.68730	.	0.335335	0.25823	N	0.028064	T	0.72128	0.3422	M	0.65975	2.015	0.29713	N	0.839251	D;P	0.57571	0.98;0.938	P;B	0.49922	0.626;0.422	T	0.75150	-0.3419	9	0.41790	T	0.15	-9.9741	11.1818	0.48633	0.0:0.9158:0.0:0.0842	.	1305;1397	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	1244;298;1397;1305	ENSP00000441992:E1244Q;ENSP00000356825:E1397Q;ENSP00000356822:E1305Q	ENSP00000271426:E298Q	E	-	1	0	ADCY10	166057983	0.995000	0.38212	1.000000	0.80357	0.897000	0.52465	0.615000	0.24329	1.542000	0.49330	0.650000	0.86243	GAA	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.398	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	C	NM_018417		167791359	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	1.000	G	G	167791359	C	G	167791359	3	3	60	1	0	0	0	0	1	0	0	0	293	835	29	1	659	1	ADCY10	1	167791359	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	10884151	167791359	81459262	8	9261										
FAM129A	116496	genome.wustl.edu	37	chr1	184764870	184764870	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tctgatgagcatgtgcccggGagtcctgctgtgtcctctgt	13	11	2	2	rs376073509		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:184764870G>C	ENST00000367511.3	-	14	2221	c.2028C>G	c.(2026-2028)ctC>ctG	p.L676L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L676L(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTGCCCGGGAGTCCTGCTG	0.577																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											64	55	58					1																	184764870		2203	4300	6503	SO:0001819	synonymous_variant	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2028C>G	1.37:g.184764870G>C			Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	NULL	p.L676	ENST00000367511.3	37	c.2028	CCDS1364.1	1																																																																																			FAM129A	-	NULL		0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	G			184764870	-1	no_errors	ENST00000367511	ensembl	human	known	70_37	silent	SNP	0.000	C	C	184764870	G	C	184764870	2	2	60	1	0	0	0	0	0	0	0	1	5451	1161	41	1		1	FAM129A	1	184764870	Silent	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	16973511	184764870	64485751	9	9262										
ATP2B4	493	genome.wustl.edu	37	chr1	203693066	203693066	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gtacaagcctcagcctgtctCagtggctgtggtgtctcttc	11	12	3	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:203693066C>G	ENST00000357681.5	+	19	4205	c.3082C>G	c.(3082-3084)Cag>Gag	p.Q1028E	ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1028E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1028E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1016E|ATP2B4_ENST00000391954.2_Intron	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1028					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.Q1028E(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGCCTGTCTCAGTGGCTGTG	0.522																																																	2	Substitution - Missense(2)	cervix(2)											158	160	159					1																	203693066		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3082C>G	1.37:g.203693066C>G	ENSP00000350310:p.Gln1028Glu		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.Q1028E	ENST00000357681.5	37	c.3082	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349901	0.61183	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.19	5.19	0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.324485	0.23014	N	0.052935	D	0.87434	0.6176	L	0.57130	1.785	0.80722	D	1	P;B;B	0.36027	0.533;0.333;0.089	B;B;B	0.34452	0.183;0.179;0.061	D	0.86754	0.1962	10	0.39692	T	0.17	-11.0051	18.2983	0.90154	0.0:1.0:0.0:0.0	.	1028;1028;1028	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	E	1028;1028;1016;1028	ENSP00000350310:Q1028E;ENSP00000356187:Q1028E;ENSP00000356188:Q1016E;ENSP00000340930:Q1028E	ENSP00000340930:Q1028E	Q	+	1	0	ATP2B4	201959689	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	7.748000	0.85085	2.426000	0.82243	0.650000	0.86243	CAG	ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	C	NM_001001396		203693066	1	no_errors	ENST00000357681	ensembl	human	known	70_37	missense	SNP	1.000	G	G	203693066	C	G	203693066	3	3	60	1	0	0	0	0	1	0	0	0	1143	827	29	1	3152	1	ATP2B4	1	203693066	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	18928196	203693066	45557555	10	9263										
USH2A	7399	genome.wustl.edu	37	chr1	215848679	215848679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ttttccctcgaagcatctgcGaatcacttcatagcgaatta	6	11	3	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:215848679G>A	ENST00000307340.3	-	63	12960	c.12574C>T	c.(12574-12576)Cgc>Tgc	p.R4192C	USH2A_ENST00000366943.2_Missense_Mutation_p.R4192C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4192	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in RP39; dbSNP:rs199605265). {ECO:0000269|PubMed:22334370}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R4192C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGCATCTGCGAATCACTTCA	0.438										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	cervix(1)											114	114	114					1																	215848679		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12574C>T	1.37:g.215848679G>A	ENSP00000305941:p.Arg4192Cys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R4192C	ENST00000307340.3	37	c.12574	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978775	0.74360	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;T	0.85088	-1.94;0.57	5.25	5.25	0.73442	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.157439	0.29767	N	0.011254	D	0.90525	0.7031	M	0.79123	2.44	0.42286	D	0.992115	D	0.76494	0.999	P	0.60609	0.877	D	0.90311	0.4337	10	0.41790	T	0.15	.	13.783	0.63093	0.0:0.0:0.8467:0.1533	.	4192	O75445	USH2A_HUMAN	C	4192	ENSP00000305941:R4192C;ENSP00000355910:R4192C	ENSP00000305941:R4192C	R	-	1	0	USH2A	213915302	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.993000	0.49425	2.454000	0.82982	0.650000	0.86243	CGC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215848679	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	A	A	215848679	G	A	215848679	3	1	60	1	0	0	0	0	1	0	0	0	17067	1058	37	1	3074	1	USH2A	1	215848679	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	12155613	215848679	33401942	11	9264										
OR2T2	401992	genome.wustl.edu	37	chr1	248616883	248616883	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agccttctacaccaacgtgcTgccccactcctaccacactc	4	20	1	0	rs143551105	byFrequency	TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr1:248616883T>A	ENST00000342927.3	+	1	807	c.785T>A	c.(784-786)cTg>cAg	p.L262Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCAACGTGCTGCCCCACTCC	0.537																																																	0													21	19	20					1																	248616883		2179	4264	6443	SO:0001583	missense	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.785T>A	1.37:g.248616883T>A	ENSP00000343062:p.Leu262Gln		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L262Q	ENST00000342927.3	37	c.785	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	t	9.878	1.200859	0.22121	.	.	ENSG00000196240	ENST00000342927	T	0.37584	1.19	3.5	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003307	T	0.28962	0.0719	N	0.04260	-0.245	0.19300	N	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.06092	-1.0846	10	0.30078	T	0.28	.	5.2576	0.15555	0.1723:0.0:0.1769:0.6508	.	262	Q6IF00	OR2T2_HUMAN	Q	262	ENSP00000343062:L262Q	ENSP00000343062:L262Q	L	+	2	0	OR2T2	246683506	0.000000	0.05858	0.864000	0.33941	0.263000	0.26337	0.284000	0.18864	1.431000	0.47355	0.374000	0.22700	CTG	OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	T	NM_001004136		248616883	1	no_errors	ENST00000342927	ensembl	human	known	70_37	missense	SNP	0.339	A	A	248616883	T	A	248616883	3	1	60	1	0	0	0	0	1	0	0	0	11044	1580	55	5	787	5	OR2T2	1	248616883	Missense_Mutation	SNP	T	TCGA-DS-A0VL-01A-21D-A10S-08	32768204	248616883	633738	12	9265										
STRN	6801	genome.wustl.edu	37	chr2	37193479	37193480	+	Frame_Shift_Ins	INS	-	-	C													0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gagactgtactgggctcgggINSccgcccccgccgcagccgcc							TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr2:37193479_37193480insC	ENST00000263918.4	-	1	135_136	c.127_128insG	c.(127-129)gccfs	p.A43fs	STRN_ENST00000379213.2_Frame_Shift_Ins_p.A31fs	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	43					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGGGCTCGGgccgcccccgcc	0.748																																																	0																																										SO:0001589	frameshift_variant	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.128dupG	2.37:g.37193481_37193481dupC	ENSP00000263918:p.Ala43fs		Q3KP65|Q53TQ8|Q9NP38	Frame_Shift_Ins	INS	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A43fs	ENST00000263918.4	37	c.128_127	CCDS1784.1	2																																																																																			STRN	-	NULL		0.748	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	-			37193480	-1	no_errors	ENST00000263918	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	37193480	-	C	37193479	7	5	60	1	0	1	1	0	0	0	0	0	15359	1203	42	0	2286	0	STRN	2	37193479	Frame_Shift_Ins	INS	-	TCGA-DS-A0VL-01A-21D-A10S-08		37193479	206005894	13	9266										
DQX1	165545	genome.wustl.edu	37	chr2	74751187	74751187	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggaaggtctctcaccaggctCtctgggtatatgcacaatag	11	10	3	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr2:74751187C>T	ENST00000404568.3	-	4	898	c.679G>A	c.(679-681)Gag>Aag	p.E227K	DQX1_ENST00000393951.2_Missense_Mutation_p.E227K|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	227						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E109K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCACCAGGCTCTCTGGGTATA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											77	76	76					2																	74751187		2203	4300	6503	SO:0001583	missense	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.679G>A	2.37:g.74751187C>T	ENSP00000384621:p.Glu227Lys		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.E227K	ENST00000404568.3	37	c.679	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	9.221	1.033412	0.19590	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.21543	4.3;4.3;2.0	5.38	3.58	0.41010	DEAD-like helicase (1);	0.745129	0.12423	N	0.470223	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24728	-1.0152	10	0.87932	D	0	-29.6447	7.9497	0.30008	0.0:0.8112:0.0:0.1888	.	227	Q8TE96	DQX1_HUMAN	K	227;227;109	ENSP00000377523:E227K;ENSP00000384621:E227K;ENSP00000392969:E109K	ENSP00000377523:E227K	E	-	1	0	DQX1	74604695	0.000000	0.05858	0.453000	0.27007	0.523000	0.34469	0.273000	0.18662	0.651000	0.30788	0.609000	0.83330	GAG	DQX1	-	smart_Helicase_ATP-bd		0.562	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	C	NM_133637		74751187	-1	no_errors	ENST00000393951	ensembl	human	known	70_37	missense	SNP	0.003	T	T	74751187	C	T	74751187	3	4	60	1	0	0	0	0	1	0	0	0	4761	922	32	1	1510	1	DQX1	2	74751187	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	37557708	74751187	168448186	14	9267										
ATOH8	84913	genome.wustl.edu	37	chr2	85982063	85982063	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	acaccatcagcgcagccttcGaggcgctcaggaagcaggta	12	13	2	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr2:85982063G>C	ENST00000306279.3	+	1	1047	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	251	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E251Q(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGCAGCCTTCGAGGCGCTCAG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											11	12	12					2																	85982063		1972	3847	5819	SO:0001583	missense	84913			AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"Basic helix-loop-helix proteins"	24126	protein-coding gene	gene with protein product	"basic helix loop helix transcription factor 6"					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.751G>C	2.37:g.85982063G>C	ENSP00000304676:p.Glu251Gln		Q504S2|Q659B0	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E251Q	ENST00000306279.3	37	c.751	CCDS1985.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572617	0.86542	.	.	ENSG00000168874	ENST00000306279	D	0.97941	-4.62	3.79	3.79	0.43588	Helix-loop-helix DNA-binding (5);	0.309943	0.30820	N	0.008802	D	0.97558	0.9200	L	0.40543	1.245	0.52501	D	0.999955	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.983	D	0.97406	0.9999	10	0.56958	D	0.05	-14.0198	13.9484	0.64101	0.0:0.0:1.0:0.0	.	251;251	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	Q	251	ENSP00000304676:E251Q	ENSP00000304676:E251Q	E	+	1	0	ATOH8	85835574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.819000	0.75262	2.411000	0.81874	0.462000	0.41574	GAG	ATOH8	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.716	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH8	HGNC	protein_coding	OTTHUMT00000252496.1	G	NM_032827		85982063	1	no_errors	ENST00000306279	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85982063	G	C	85982063	3	2	60	1	0	0	0	0	1	0	0	0	1115	1059	37	1	753	1	ATOH8	2	85982063	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	11230876	85982063	157217310	15	9268										
POLR1A	25885	genome.wustl.edu	37	chr2	86259429	86259429	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tctccttgcgtttggcatcaGaggcatcggcgtccccctcc	10	16	2	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr2:86259429G>C	ENST00000263857.6	-	29	4616	c.4238C>G	c.(4237-4239)tCt>tGt	p.S1413C	POLR1A_ENST00000409681.1_Missense_Mutation_p.S1413C			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1413					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.S1413C(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTTGGCATCAGAGGCATCGGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											159	173	168					2																	86259429		2124	4227	6351	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4238C>G	2.37:g.86259429G>C	ENSP00000263857:p.Ser1413Cys		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.S1413C	ENST00000263857.6	37	c.4238	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435001	0.62955	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68479	-0.33;-0.33	4.94	4.94	0.65067	RNA polymerase Rpb1, domain 5 (1);	0.364495	0.30392	N	0.009735	T	0.77718	0.4172	L	0.60455	1.87	0.49130	D	0.999754	D	0.69078	0.997	P	0.60173	0.87	T	0.79820	-0.1642	10	0.72032	D	0.01	-14.6938	19.0512	0.93046	0.0:0.0:1.0:0.0	.	1413	O95602	RPA1_HUMAN	C	1413	ENSP00000263857:S1413C;ENSP00000386300:S1413C	ENSP00000263857:S1413C	S	-	2	0	POLR1A	86112940	1.000000	0.71417	0.967000	0.41034	0.748000	0.42578	8.683000	0.91236	2.677000	0.91161	0.462000	0.41574	TCT	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.597	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	G	NM_015425		86259429	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.988	C	C	86259429	G	C	86259429	3	2	60	1	0	0	0	0	1	0	0	0	12233	942	33	1	948	1	POLR1A	2	86259429	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	277366	86259429	156939944	16	9269										
CASP8	841	genome.wustl.edu	37	chr2	202136259	202136259	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggtcatgctctatcagatttCagaagaagtgagcagatcag	11	7	5	5			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr2:202136259C>G	ENST00000432109.2	+	4	515	c.326C>G	c.(325-327)tCa>tGa	p.S109*	CASP8_ENST00000392258.3_Nonsense_Mutation_p.S109*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.S109*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S141*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.S168*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.S109*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S109*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.S109*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	109	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.S141*(4)|p.S168*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATCAGATTTCAGAAGAAGTG	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												6	Substitution - Nonsense(6)	cervix(3)|lung(3)											126	126	126					2																	202136259		2203	4300	6503	SO:0001587	stop_gained	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.326C>G	2.37:g.202136259C>G	ENSP00000412523:p.Ser109*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.S168*	ENST00000432109.2	37	c.503	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701361	0.30142	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	4.71	2.91	0.33838	.	0.709600	0.13250	N	0.402162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.9251	0.24410	0.0:0.7193:0.154:0.1267	.	.	.	.	X	109;109;109;109;109;141;6;109;109;109;168;109;109;109;109	.	ENSP00000264274:S109X	S	+	2	0	CASP8	201844504	0.999000	0.42202	0.995000	0.50966	0.028000	0.11728	2.426000	0.44731	0.586000	0.29626	0.563000	0.77884	TCA	CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202136259	1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.992	G	G	202136259	C	G	202136259	4	3	60	1	0	0	0	0	0	1	0	0	2682	838	29	1	613	1	CASP8	2	202136259	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	115876830	202136259	41063114	17	9270										
WNT10A	80326	genome.wustl.edu	37	chr2	219754750	219754750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	acgccatcgcagcagctggcGtggtgcacgccgtgtccaat	13	14	0	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr2:219754750G>A	ENST00000258411.3	+	3	1054	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	141					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.V141M(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGCTGGCGTGGTGCACGC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											93	80	85					2																	219754750		2203	4300	6503	SO:0001583	missense	80326			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.421G>A	2.37:g.219754750G>A	ENSP00000258411:p.Val141Met		Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10	p.V141M	ENST00000258411.3	37	c.421	CCDS2426.1	2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213846	0.58452	.	.	ENSG00000135925	ENST00000258411	T	0.81247	-1.47	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	M	0.80616	2.505	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.91076	0.4896	10	0.87932	D	0	.	16.7309	0.85434	0.0:0.0:1.0:0.0	.	141	Q9GZT5	WN10A_HUMAN	M	141	ENSP00000258411:V141M	ENSP00000258411:V141M	V	+	1	0	WNT10A	219462994	1.000000	0.71417	0.922000	0.36590	0.061000	0.15899	9.522000	0.98032	2.594000	0.87642	0.655000	0.94253	GTG	WNT10A	-	pfam_Wnt,smart_Wnt,prints_Wnt		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT10A	HGNC	protein_coding	OTTHUMT00000256730.2	G	NM_025216		219754750	1	no_errors	ENST00000258411	ensembl	human	known	70_37	missense	SNP	1.000	A	A	219754750	G	A	219754750	3	1	60	1	0	0	0	0	1	0	0	0	17413	1145	40	2	431	2	WNT10A	2	219754750	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	17618491	219754750	23444623	18	9271										
RAD54L2	23132	genome.wustl.edu	37	chr3	51697389	51697389	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aggttgggttcagctccaatGatgatgaggataaagacgat	13	5	1	4			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr3:51697389G>A	ENST00000409535.2	+	22	4482	c.4357G>A	c.(4357-4359)Gat>Aat	p.D1453N	RAD54L2_ENST00000296477.3_Missense_Mutation_p.D1147N	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1453						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.D1453N(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGCTCCAATGATGATGAGGA	0.577																																																	1	Substitution - Missense(1)	cervix(1)											48	47	47					3																	51697389		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4357G>A	3.37:g.51697389G>A	ENSP00000386520:p.Asp1453Asn		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1453N	ENST00000409535.2	37	c.4357	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956038	0.34471	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.94092	-3.25;-3.35	5.56	5.56	0.83823	.	0.268401	0.33712	N	0.004624	D	0.86297	0.5899	N	0.08118	0	0.80722	D	1	B;B	0.16166	0.004;0.016	B;B	0.13407	0.007;0.009	T	0.81475	-0.0916	10	0.38643	T	0.18	-3.9597	17.0337	0.86468	0.0:0.0:1.0:0.0	.	1453;1042	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	N	1453;1147	ENSP00000386520:D1453N;ENSP00000296477:D1147N	ENSP00000296477:D1147N	D	+	1	0	RAD54L2	51672429	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.380000	0.66202	2.609000	0.88269	0.655000	0.94253	GAT	RAD54L2	-	NULL		0.577	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51697389	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51697389	G	A	51697389	3	1	60	1	0	0	0	0	1	0	0	0	13024	1290	45	1	4439	1	RAD54L2	3	51697389	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08		51697389	146325041	19	9272										
LNP1	348801	genome.wustl.edu	37	chr3	100170714	100170714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gccactggaatcaaaaggaaGatcccattccaaaattgaga	8	9	1	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr3:100170714G>C	ENST00000383693.3	+	3	1588	c.308G>C	c.(307-309)aGa>aCa	p.R103T	LNP1_ENST00000489752.1_Missense_Mutation_p.R116T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	103								p.R103T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						TCAAAAGGAAGATCCCATTCC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											105	99	101					3																	100170714		1843	4088	5931	SO:0001583	missense	348801				CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.308G>C	3.37:g.100170714G>C	ENSP00000373191:p.Arg103Thr		B7ZLT3	Missense_Mutation	SNP	NULL	p.R103T	ENST00000383693.3	37	c.308	CCDS43120.1	3	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637151	0.67130	.	.	ENSG00000206535	ENST00000383693;ENST00000489752	.	.	.	5.32	3.53	0.40419	.	0.167323	0.37012	N	0.002299	T	0.32315	0.0825	L	0.34521	1.04	0.29120	N	0.880289	D	0.53312	0.959	P	0.47981	0.563	T	0.17837	-1.0356	9	0.72032	D	0.01	-26.7986	9.2432	0.37509	0.1707:0.0:0.8293:0.0	.	103	A1A4G5	LNP1_HUMAN	T	103;116	.	ENSP00000373191:R103T	R	+	2	0	LNP1	101653404	0.254000	0.23992	0.468000	0.27192	0.864000	0.49448	2.272000	0.43373	0.649000	0.30751	0.461000	0.40582	AGA	LNP1	-	NULL		0.438	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNP1	HGNC	protein_coding	OTTHUMT00000353232.1	G			100170714	1	no_errors	ENST00000383693	ensembl	human	known	70_37	missense	SNP	0.991	C	C	100170714	G	C	100170714	3	2	60	1	0	0	0	0	1	0	0	0	8884	942	33	1	314	1	LNP1	3	100170714	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	48473325	100170714	97851716	20	9273										
GOLGB1	2804	genome.wustl.edu	37	chr3	121414091	121414091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gatgctttaaatcttgaaccTcttcacttagagagtctttc	6	9	4	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr3:121414091T>G	ENST00000340645.5	-	13	5389	c.5264A>C	c.(5263-5265)gAg>gCg	p.E1755A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1760A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1755					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1755A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTTGAACCTCTTCACTTAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											174	167	170					3																	121414091		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5264A>C	3.37:g.121414091T>G	ENSP00000341848:p.Glu1755Ala		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E1755A	ENST00000340645.5	37	c.5264	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760975	0.31137	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17854	2.25;2.25	5.8	5.8	0.92144	.	0.123149	0.36932	N	0.002333	T	0.30916	0.0780	M	0.71581	2.175	0.46260	D	0.998956	P;P;P;P	0.47910	0.901;0.901;0.901;0.902	P;P;P;P	0.49999	0.475;0.558;0.558;0.628	T	0.02339	-1.1174	10	0.45353	T	0.12	.	14.1023	0.65065	0.0:0.0:0.0:1.0	.	1680;1760;1760;1755	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	A	1755;1760	ENSP00000341848:E1755A;ENSP00000377275:E1760A	ENSP00000341848:E1755A	E	-	2	0	GOLGB1	122896781	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.781000	0.62389	2.203000	0.70933	0.460000	0.39030	GAG	GOLGB1	-	smart_Leu_zip_homeo		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121414091	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121414091	T	G	121414091	3	3	60	1	0	0	0	0	1	0	0	0	6584	1551	54	5	4555	5	GOLGB1	3	121414091	Missense_Mutation	SNP	T	TCGA-DS-A0VL-01A-21D-A10S-08	21243377	121414091	76608339	21	9274										
COL6A6	131873	genome.wustl.edu	37	chr3	130289750	130289750	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gagtataatatcatgaaggaTtttatgattggcttagtgaa	10	2	1	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr3:130289750T>G	ENST00000358511.6	+	6	2521	c.2490T>G	c.(2488-2490)gaT>gaG	p.D830E	COL6A6_ENST00000453409.2_Missense_Mutation_p.D830E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	830	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCATGAAGGATTTTATGATTG	0.413																																																	0													84	87	86					3																	130289750		1867	4112	5979	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2490T>G	3.37:g.130289750T>G	ENSP00000351310:p.Asp830Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D830E	ENST00000358511.6	37	c.2490	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	T	6.721	0.501792	0.12822	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82803	-1.65;-1.65	4.79	-4.53	0.03462	von Willebrand factor, type A (3);	0.212138	0.32987	N	0.005410	T	0.61974	0.2390	N	0.13198	0.31	0.21933	N	0.999466	B	0.09022	0.002	B	0.14578	0.011	T	0.49762	-0.8905	10	0.39692	T	0.17	.	7.5525	0.27806	0.0:0.4037:0.2563:0.34	.	830	A6NMZ7	CO6A6_HUMAN	E	830	ENSP00000351310:D830E;ENSP00000399236:D830E	ENSP00000351310:D830E	D	+	3	2	COL6A6	131772440	0.007000	0.16637	0.900000	0.35374	0.483000	0.33249	-1.092000	0.03366	-0.534000	0.06315	-0.441000	0.05720	GAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	T	NM_001102608		130289750	1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	0.446	G	G	130289750	T	G	130289750	3	3	60	1	0	0	0	0	1	0	0	0	3708	1490	52	5	2512	5	COL6A6	3	130289750	Missense_Mutation	SNP	T	TCGA-DS-A0VL-01A-21D-A10S-08	8875659	130289750	67732680	22	9275										
GUF1	60558	genome.wustl.edu	37	chr4	44691410	44691410	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atcgggatagtagccttgctCtgggtgctggctggaggtaa	16	7	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr4:44691410C>T	ENST00000281543.5	+	10	1380	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.L396L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TAGCCTTGCTCTGGGTGCTGG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											129	133	132					4																	44691410		2203	4300	6503	SO:0001819	synonymous_variant	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1186C>T	4.37:g.44691410C>T				Silent	SNP	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.L396	ENST00000281543.5	37	c.1186	CCDS3468.1	4																																																																																			GUF1	-	superfamily_Elongation_fac_G/III/V,tigrfam_EF-4		0.378	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	C	NM_021927		44691410	1	no_errors	ENST00000281543	ensembl	human	known	70_37	silent	SNP	0.546	T	T	44691410	C	T	44691410	2	4	60	1	0	0	0	0	0	0	0	1	6919	912	32	1		1	GUF1	4	44691410	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		44691410	146462866	23	9276										
PCDHA13	56136	genome.wustl.edu	37	chr5	140262124	140262124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tgtttgtgaattctcggatcGaccgcgaggagctgtgtggg	16	7	1	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr5:140262124G>A	ENST00000289272.2	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D91N|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D91N(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCGGATCGACCGCGAGGA	0.592																																					Melanoma(147;1739 1852 5500 27947 37288)												1	Substitution - Missense(1)	cervix(1)											119	131	127					5																	140262124		2203	4297	6500	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.271G>A	5.37:g.140262124G>A	ENSP00000289272:p.Asp91Asn		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D91N	ENST00000289272.2	37	c.271	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.242002	0.95272	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52295	0.67;0.67	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80534	0.4641	H	0.97707	4.06	0.48762	D	0.999701	D;D;D	0.69078	0.997;0.991;0.988	D;D;P	0.68192	0.91;0.956;0.704	D	0.87435	0.2391	9	0.87932	D	0	.	19.1623	0.93539	0.0:0.0:1.0:0.0	.	91;91;91	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	N	91	ENSP00000386821:D91N;ENSP00000289272:D91N	ENSP00000289272:D91N	D	+	1	0	PCDHA13	140242308	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.731000	0.98807	2.621000	0.88768	0.561000	0.74099	GAC	PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.592	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140262124	1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140262124	G	A	140262124	3	1	60	1	0	0	0	0	1	0	0	0	11547	1058	37	1	273	1	PCDHA13	5	140262124	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08		140262124	40653136	24	9277										
MARCKS	4082	genome.wustl.edu	37	chr6	114181151	114181151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggccgcgtcggccgcctcctCgacttcttcgcccaaggccg	12	19	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr6:114181151C>T	ENST00000368635.4	+	2	776	c.395C>T	c.(394-396)tCg>tTg	p.S132L		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	132					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GCCGCCTCCTCGACTTCTTCG	0.677																																																	0													4	6	5					6																	114181151		1528	3514	5042	SO:0001583	missense	4082			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.395C>T	6.37:g.114181151C>T	ENSP00000357624:p.Ser132Leu		E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	pfam_MARCKS,prints_MARCKS	p.S132L	ENST00000368635.4	37	c.395	CCDS5101.1	6	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385653	0.61956	.	.	ENSG00000155130	ENST00000368635	T	0.32023	1.47	2.76	1.86	0.25419	.	0.298995	0.18501	N	0.139349	T	0.04998	0.0134	N	0.08118	0	0.29736	N	0.837523	B	0.06786	0.001	B	0.01281	0.0	T	0.30534	-0.9975	10	0.59425	D	0.04	.	5.7935	0.18373	0.0:0.8323:0.0:0.1677	.	132	P29966	MARCS_HUMAN	L	132	ENSP00000357624:S132L	ENSP00000357624:S132L	S	+	2	0	MARCKS	114287844	0.410000	0.25376	0.996000	0.52242	0.947000	0.59692	1.169000	0.31871	0.249000	0.21456	0.455000	0.32223	TCG	MARCKS	-	pfam_MARCKS		0.677	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCKS	HGNC	protein_coding	OTTHUMT00000041903.1	C	NM_002356		114181151	1	no_errors	ENST00000368635	ensembl	human	known	70_37	missense	SNP	0.996	T	T	114181151	C	T	114181151	3	4	60	1	0	0	0	0	1	0	0	0	9332	893	31	1	401	1	MARCKS	6	114181151	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		114181151	56933916	25	9278										
C6orf174	387104	genome.wustl.edu	37	chr6	127837445	127837445	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cctttgggcgccaggggcgtCgccttctcggccccacctcc	12	19	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr6:127837445C>T	ENST00000525778.1	-	2	1060	c.315G>A	c.(313-315)gcG>gcA	p.A105A	SOGA3_ENST00000556132.1_Silent_p.A105A|SOGA3_ENST00000465909.2_Silent_p.A105A|SOGA3_ENST00000368268.2_Silent_p.A105A|SOGA3_ENST00000481848.2_Silent_p.A105A			Q5TF21	SOGA3_HUMAN	SOGA family member 3	105	Gly-rich.				regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCAGGGGCGTCGCCTTCTCGG	0.736																																																	0													4	5	5					6																	127837445		1536	3592	5128	SO:0001819	synonymous_variant	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.315G>A	6.37:g.127837445C>T				Silent	SNP	pfam_DUF3166	p.A105	ENST00000525778.1	37	c.315	CCDS43505.1	6																																																																																			SOGA3	-	NULL		0.736	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127837445	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	silent	SNP	0.089	T	T	127837445	C	T	127837445	2	4	60	1	0	0	0	0	0	0	0	1	2350	871	31	1		1	C6orf174	6	127837445	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	13656294	127837445	43277622	26	9279										
GPR126	57211	genome.wustl.edu	37	chr6	142737195	142737195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ttctaaaattctgcatcattGgctggggtaagcctcttaaa	8	8	4	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr6:142737195G>T	ENST00000230173.6	+	20	3408	c.2932G>T	c.(2932-2934)Ggc>Tgc	p.G978C	GPR126_ENST00000367608.2_Missense_Mutation_p.G950C|GPR126_ENST00000296932.8_Missense_Mutation_p.G950C|GPR126_ENST00000367609.3_Missense_Mutation_p.G978C	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	978					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G978C(1)|p.G949C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGCATCATTGGCTGGGGTAA	0.333																																																	2	Substitution - Missense(2)	cervix(2)											80	74	76					6																	142737195		1827	4075	5902	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2932G>T	6.37:g.142737195G>T	ENSP00000230173:p.Gly978Cys		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G978C	ENST00000230173.6	37	c.2932	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617439	0.87359	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.33	5.33	0.75918	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000004	D	0.93314	0.7869	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93950	0.7231	10	0.87932	D	0	.	19.3992	0.94621	0.0:0.0:1.0:0.0	.	950;978;950;978	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	C	978;950;950;978	ENSP00000230173:G978C;ENSP00000356580:G950C;ENSP00000296932:G950C;ENSP00000356581:G978C	ENSP00000230173:G978C	G	+	1	0	GPR126	142778888	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.659000	0.90383	0.650000	0.86243	GGC	GPR126	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.333	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	G			142737195	1	no_errors	ENST00000367609	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142737195	G	T	142737195	3	4	60	1	0	0	0	0	1	0	0	0	6659	1348	47	4	3010	4	GPR126	6	142737195	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	14899750	142737195	28377872	27	9280										
LRP11	84918	genome.wustl.edu	37	chr6	150157417	150157417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gctgccgtgtgggttaccatCttgcggtccaggcccactga	13	13	1	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr6:150157417C>G	ENST00000239367.2	-	5	1061	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	LRP11_ENST00000463728.1_5'Flank|LRP11_ENST00000546019.1_Missense_Mutation_p.K97N	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	352						integral component of membrane (GO:0016021)		p.K352N(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GGGTTACCATCTTGCGGTCCA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											74	67	69					6																	150157417		2203	4300	6503	SO:0001583	missense	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1056G>C	6.37:g.150157417C>G	ENSP00000239367:p.Lys352Asn		Q5VYC0|Q96SN6	Missense_Mutation	SNP	pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom	p.K352N	ENST00000239367.2	37	c.1056	CCDS5220.1	6	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697791	0.48307	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	T;D	0.96745	3.45;-4.11	5.93	3.18	0.36537	.	0.072201	0.64402	D	0.000003	D	0.95364	0.8495	M	0.63843	1.955	0.39940	D	0.974397	D	0.69078	0.997	D	0.63703	0.917	D	0.93293	0.6670	10	0.23302	T	0.38	-17.7518	9.1767	0.37116	0.0:0.7771:0.0:0.2229	.	352	Q86VZ4	LRP11_HUMAN	N	352;97	ENSP00000239367:K352N;ENSP00000440196:K97N	ENSP00000239367:K352N	K	-	3	2	LRP11	150199110	0.593000	0.26840	0.472000	0.27241	0.501000	0.33797	0.318000	0.19504	1.523000	0.49018	0.563000	0.77884	AAG	LRP11	-	NULL		0.498	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP11	HGNC	protein_coding	OTTHUMT00000042664.1	C	NM_032832		150157417	-1	no_errors	ENST00000239367	ensembl	human	known	70_37	missense	SNP	0.602	G	G	150157417	C	G	150157417	3	3	60	1	0	0	0	0	1	0	0	0	8976	912	32	1	458	1	LRP11	6	150157417	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	7420222	150157417	20957650	28	9281										
TNRC18	84629	genome.wustl.edu	37	chr7	5401610	5401610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cacctcggccagccgcatccGgaagtccagctccagggcgt	12	17	0	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr7:5401610G>A	ENST00000430969.1	-	13	4798	c.4450C>T	c.(4450-4452)Cgg>Tgg	p.R1484W	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1484W	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1484							chromatin binding (GO:0003682)	p.R1484W(2)|p.R539W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGCCGCATCCGGAAGTCCAGC	0.657																																																	3	Substitution - Missense(3)	cervix(3)											21	25	24					7																	5401610		2072	4202	6274	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4450C>T	7.37:g.5401610G>A	ENSP00000395538:p.Arg1484Trp		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R1484W	ENST00000430969.1	37	c.4450	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104704	0.77096	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.44083	0.95;0.93;1.65	5.52	4.61	0.57282	.	0.000000	0.41500	D	0.000872	T	0.64283	0.2584	M	0.78637	2.42	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	T	0.68232	-0.5463	10	0.87932	D	0	.	13.3846	0.60789	0.0:0.0:0.6705:0.3295	.	1484	O15417	TNC18_HUMAN	W	1484;1484;539;17	ENSP00000382452:R1484W;ENSP00000395538:R1484W;ENSP00000395990:R17W	ENSP00000382452:R1484W	R	-	1	2	TNRC18	5368136	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.237000	0.58681	2.606000	0.88127	0.561000	0.74099	CGG	TNRC18	-	NULL		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		G			5401610	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5401610	G	A	5401610	3	1	60	1	0	0	0	0	1	0	0	0	16369	1115	39	2	4528	2	TNRC18	7	5401610	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08		5401610	153737053	29	9282										
ANKIB1	54467	genome.wustl.edu	37	chr7	92027863	92027863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tccctcatctagtgatcctgActcagctggccaggacccca	8	16	3	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr7:92027863A>G	ENST00000265742.3	+	20	3246	c.2870A>G	c.(2869-2871)gAc>gGc	p.D957G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	957							zinc ion binding (GO:0008270)	p.D957G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGATCCTGACTCAGCTGGC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											135	131	132					7																	92027863		2039	4187	6226	SO:0001583	missense	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2870A>G	7.37:g.92027863A>G	ENSP00000265742:p.Asp957Gly		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.D957G	ENST00000265742.3	37	c.2870	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575652	0.28092	.	.	ENSG00000001629	ENST00000265742	T	0.10668	2.85	5.61	4.43	0.53597	.	0.616321	0.17414	N	0.175083	T	0.09905	0.0243	N	0.24115	0.695	0.47862	D	0.99953	P;B	0.34724	0.465;0.006	B;B	0.36666	0.23;0.008	T	0.13791	-1.0496	10	0.87932	D	0	.	12.9259	0.58260	0.8644:0.1356:0.0:0.0	.	309;957	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	G	957	ENSP00000265742:D957G	ENSP00000265742:D957G	D	+	2	0	ANKIB1	91865799	1.000000	0.71417	0.990000	0.47175	0.431000	0.31685	5.647000	0.67923	1.024000	0.39682	0.533000	0.62120	GAC	ANKIB1	-	NULL		0.493	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	HGNC	protein_coding	OTTHUMT00000342018.1	A			92027863	1	no_errors	ENST00000265742	ensembl	human	known	70_37	missense	SNP	0.980	G	G	92027863	A	G	92027863	3	3	60	1	0	0	0	0	1	0	0	0	630	275	10	5	2944	5	ANKIB1	7	92027863	Missense_Mutation	SNP	A	TCGA-DS-A0VL-01A-21D-A10S-08	86626253	92027863	67110800	30	9283										
MCM7	4176	genome.wustl.edu	37	chr7	99696993	99696993	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ctccatcattagccgatgctCaatgtaaacgtccaggacat	7	12	2	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr7:99696993C>A	ENST00000303887.5	-	4	955	c.310G>T	c.(310-312)Gag>Tag	p.E104*	AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000343023.6_Nonsense_Mutation_p.E104*|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000429084.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	104					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.E104*(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCGATGCTCAATGTAAACG	0.478																																																	1	Substitution - Nonsense(1)	cervix(1)											70	77	75					7																	99696993		2203	4300	6503	SO:0001587	stop_gained	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.310G>T	7.37:g.99696993C>A	ENSP00000307288:p.Glu104*		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.E104*	ENST00000303887.5	37	c.310	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.175218	0.98114	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483	.	.	.	4.57	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-3.9543	12.2388	0.54530	0.0:0.8269:0.1731:0.0	.	.	.	.	X	104;104;41	.	ENSP00000307288:E104X	E	-	1	0	MCM7	99534929	1.000000	0.71417	0.984000	0.44739	0.247000	0.25773	6.987000	0.76206	1.095000	0.41419	0.563000	0.77884	GAG	MCM7	-	superfamily_NA-bd_OB-fold-like		0.478	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	C			99696993	-1	no_errors	ENST00000303887	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	99696993	C	A	99696993	4	1	60	1	0	0	0	0	0	1	0	0	9415	835	29	3	1897	3	MCM7	7	99696993	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	7669130	99696993	59441670	31	9284										
MUC17	140453	genome.wustl.edu	37	chr7	100676739	100676739	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aggtaccagcatgccaacctCaacttatactgaaggaagca	8	11	1	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr7:100676739C>G	ENST00000306151.4	+	3	2106	c.2042C>G	c.(2041-2043)tCa>tGa	p.S681*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	681	59 X approximate tandem repeats.|Ser-rich.				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.S681*(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)					ATGCCAACCTCAACTTATACT	0.483																																																	1	Substitution - Nonsense(1)	cervix(1)											319	323	321					7																	100676739		2203	4300	6503	SO:0001587	stop_gained	140453			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.2042C>G	7.37:g.100676739C>G	ENSP00000302716:p.Ser681*		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S681*	ENST00000306151.4	37	c.2042	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490968	0.84962	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.22	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	8.4632	0.32940	0.0:1.0:0.0:0.0	.	.	.	.	X	681	.	ENSP00000302716:S681X	S	+	2	0	MUC17	100463459	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.537000	0.06128	1.015000	0.39444	0.395000	0.25975	TCA	MUC17	-	NULL		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100676739	1	no_errors	ENST00000306151	ensembl	human	known	70_37	nonsense	SNP	0.002	G	G	100676739	C	G	100676739	4	3	60	1	0	0	0	0	0	1	0	0	9997	838	29	1	2052	1	MUC17	7	100676739	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	979746	100676739	58461924	32	9285										
RELN	5649	genome.wustl.edu	37	chr7	103193976	103193976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aatggaatgctcaccaacttCatttgaaacaaacaccatag	5	10	2	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr7:103193976C>T	ENST00000428762.1	-	40	6163	c.6004G>A	c.(6004-6006)Gaa>Aaa	p.E2002K	RELN_ENST00000424685.2_Missense_Mutation_p.E2002K|RELN_ENST00000343529.5_Missense_Mutation_p.E2002K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2002					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.E2002K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACCAACTTCATTTGAAACA	0.363																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	cervix(1)											117	106	110					7																	103193976		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6004G>A	7.37:g.103193976C>T	ENSP00000392423:p.Glu2002Lys		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.E2002K	ENST00000428762.1	37	c.6004	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.264760	0.95399	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27720	1.65;1.65;1.65	5.63	5.63	0.86233	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	L	0.53249	1.67	0.80722	D	1	P;D	0.60575	0.941;0.988	P;P	0.56751	0.754;0.805	T	0.38993	-0.9635	10	0.59425	D	0.04	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	2002;2002	P78509-2;P78509	.;RELN_HUMAN	K	2002	ENSP00000392423:E2002K;ENSP00000345694:E2002K;ENSP00000388446:E2002K	ENSP00000345694:E2002K	E	-	1	0	RELN	102981212	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.445000	0.80570	2.805000	0.96524	0.655000	0.94253	GAA	RELN	-	superfamily_Neuraminidase		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103193976	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103193976	C	T	103193976	3	4	60	1	0	0	0	0	1	0	0	0	13250	835	29	1	4482	1	RELN	7	103193976	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	2517237	103193976	55944687	33	9286										
TAS2R16	50833	genome.wustl.edu	37	chr7	122634943	122634943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atctcttatcaaatagagtaCctataatggtgatgagtatg	8	5	2	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr7:122634943C>T	ENST00000249284.2	-	1	811	c.746G>A	c.(745-747)gGt>gAt	p.G249D		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	249					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.G249D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAATAGAGTACCTATAATGGT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											128	122	124					7																	122634943		2203	4300	6503	SO:0001583	missense	50833			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.746G>A	7.37:g.122634943C>T	ENSP00000249284:p.Gly249Asp		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.G249D	ENST00000249284.2	37	c.746	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	C	1.145	-0.648449	0.03506	.	.	ENSG00000128519	ENST00000249284	T	0.37411	1.2	4.67	-6.08	0.02151	.	1.821080	0.02999	N	0.147885	T	0.23532	0.0569	L	0.45137	1.4	0.09310	N	1	B	0.20261	0.043	B	0.23018	0.043	T	0.12656	-1.0539	10	0.14656	T	0.56	.	2.1544	0.03808	0.1193:0.1828:0.2284:0.4695	.	249	Q9NYV7	T2R16_HUMAN	D	249	ENSP00000249284:G249D	ENSP00000249284:G249D	G	-	2	0	TAS2R16	122422179	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.207000	0.00558	-1.151000	0.02836	-0.345000	0.07892	GGT	TAS2R16	-	pfam_TAS2_rcpt		0.428	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	C	NM_016945		122634943	-1	no_errors	ENST00000249284	ensembl	human	known	70_37	missense	SNP	0.000	T	T	122634943	C	T	122634943	3	4	60	1	0	0	0	0	1	0	0	0	15599	507	18	4	133	4	TAS2R16	7	122634943	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	19440967	122634943	36503720	34	9287										
VDAC3	7419	genome.wustl.edu	37	chr8	42256271	42256271	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gcttacactgatacagggaaAgcatcaggcaacctagaaac	9	10	1	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr8:42256271A>G	ENST00000022615.4	+	5	227	c.159A>G	c.(157-159)aaA>aaG	p.K53K	VDAC3_ENST00000392935.3_Silent_p.K54K|VDAC3_ENST00000521158.1_Silent_p.K54K|VDAC3_ENST00000522572.1_Silent_p.K54K			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	53					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)	p.K53K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATACAGGGAAAGCATCAGGCA	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											76	72	73					8																	42256271		2203	4300	6503	SO:0001819	synonymous_variant	7419			AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.159A>G	8.37:g.42256271A>G			Q9UIS0	Silent	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.K54	ENST00000022615.4	37	c.162	CCDS6131.1	8																																																																																			VDAC3	-	pfam_Porin_Euk		0.353	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	VDAC3	HGNC	protein_coding	OTTHUMT00000377574.1	A			42256271	1	no_errors	ENST00000392935	ensembl	human	known	70_37	silent	SNP	1.000	G	G	42256271	A	G	42256271	2	3	60	1	0	0	0	0	0	0	0	1	17179	69	3	5		5	VDAC3	8	42256271	Silent	SNP	A	TCGA-DS-A0VL-01A-21D-A10S-08		42256271	104107751	35	9288										
CHD7	55636	genome.wustl.edu	37	chr8	61765871	61765871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	caaagaagaggaagaagaaaCcgatggcagcgggaaggaga	16	5	0	5			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr8:61765871C>T	ENST00000423902.2	+	31	7066	c.6587C>T	c.(6586-6588)aCc>aTc	p.T2196I	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2196	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T2196I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAAGAAACCGATGGCAGC	0.537																																																	2	Substitution - Missense(2)	cervix(2)											24	26	25					8																	61765871		1976	4162	6138	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6587C>T	8.37:g.61765871C>T	ENSP00000392028:p.Thr2196Ile		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T2196I	ENST00000423902.2	37	c.6587	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	2.301	-0.360129	0.05103	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.71698	-0.59	5.3	2.45	0.29901	.	1.789100	0.02946	N	0.141028	T	0.53899	0.1825	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.43798	-0.9369	10	0.41790	T	0.15	7.1207	8.7463	0.34589	0.0:0.7553:0.0:0.2447	.	2196	Q9P2D1	CHD7_HUMAN	I	2196	ENSP00000392028:T2196I	ENSP00000307304:T2196I	T	+	2	0	CHD7	61928425	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.917000	0.28665	0.207000	0.20607	-0.150000	0.13652	ACC	CHD7	-	NULL		0.537	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61765871	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	0.005	T	T	61765871	C	T	61765871	3	4	60	1	0	0	0	0	1	0	0	0	3335	507	18	4	6705	4	CHD7	8	61765871	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	19509600	61765871	84598151	36	9289										
DERL1	79139	genome.wustl.edu	37	chr8	124042857	124042857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	taacatacctgtttcaagtcGcgtagaatactgatataaga	7	7	1	3	rs564730174		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr8:124042857G>A	ENST00000259512.4	-	2	553	c.253C>T	c.(253-255)Cga>Tga	p.R85*	DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Nonsense_Mutation_p.R85*|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	85					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)	p.R85*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTTCAAGTCGCGTAGAATAC	0.373																																																	1	Substitution - Nonsense(1)	cervix(1)											63	71	68					8																	124042857		2203	4300	6503	SO:0001587	stop_gained	79139			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.253C>T	8.37:g.124042857G>A	ENSP00000259512:p.Arg85*		B3KW41|E9PH19	Nonsense_Mutation	SNP	pfam_DER1	p.R85*	ENST00000259512.4	37	c.253	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.458734	0.98296	.	.	ENSG00000136986	ENST00000259512;ENST00000405944	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	14.5293	0.67912	0.0:0.0:0.8534:0.1466	.	.	.	.	X	85	.	ENSP00000259512:R85X	R	-	1	2	DERL1	124112038	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.854000	0.55949	2.824000	0.97209	0.655000	0.94253	CGA	DERL1	-	pfam_DER1		0.373	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	G	NM_024295		124042857	-1	no_errors	ENST00000259512	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	124042857	G	A	124042857	4	1	60	1	0	0	0	0	0	1	0	0	4456	1095	38	2	530	2	DERL1	8	124042857	Nonsense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	62276986	124042857	22321165	37	9290										
SDCCAG3	10807	genome.wustl.edu	37	chr9	139302311	139302311	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ctgctggccggatcctctttCgagaggccgaggttcttggt	14	11	2	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr9:139302311C>T	ENST00000357365.3	-	4	498	c.369G>A	c.(367-369)tcG>tcA	p.S123S	SDCCAG3_ENST00000371725.3_Silent_p.S50S|SDCCAG3_ENST00000298537.7_Silent_p.S100S|SDCCAG3_ENST00000461693.1_5'Flank|PMPCA_ENST00000371717.3_5'Flank|PMPCA_ENST00000399219.3_5'Flank|PMPCA_ENST00000371720.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	123						cytoplasm (GO:0005737)		p.S123S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GATCCTCTTTCGAGAGGCCGA	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											118	124	122					9																	139302311		1911	4120	6031	SO:0001819	synonymous_variant	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.369G>A	9.37:g.139302311C>T			A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Silent	SNP	NULL	p.S123	ENST00000357365.3	37	c.369	CCDS43904.1	9																																																																																			SDCCAG3	-	NULL		0.483	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	C	NM_006643		139302311	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	silent	SNP	0.000	T	T	139302311	C	T	139302311	2	4	60	1	0	0	0	0	0	0	0	1	13988	871	31	1		1	SDCCAG3	9	139302311	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		139302311	1911120	38	9291										
EHMT1	79813	genome.wustl.edu	37	chr9	140669695	140669695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tgtcctggctgtggctacttCtgcacagcggtaagagccca	12	12	1	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr9:140669695C>G	ENST00000460843.1	+	11	1809	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L	EHMT1_ENST00000334856.6_Missense_Mutation_p.F563L|EHMT1_ENST00000462484.1_Missense_Mutation_p.F594L|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	594					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.F594L(1)|p.F563L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GTGGCTACTTCTGCACAGCGG	0.632																																																	2	Substitution - Missense(2)	cervix(2)											57	43	48					9																	140669695		2203	4300	6503	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1782C>G	9.37:g.140669695C>G	ENSP00000417980:p.Phe594Leu		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.F594L	ENST00000460843.1	37	c.1782	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848037	0.91277	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;D	0.83914	0.18;-0.57;-1.78	5.34	5.34	0.76211	.	0.098692	0.85682	D	0.000000	D	0.90435	0.7005	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.984;0.995;0.991	D	0.91056	0.4882	10	0.87932	D	0	.	10.6011	0.45367	0.0:0.8807:0.0:0.1193	.	594;563;594	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	L	563;563;594;594	ENSP00000334476:F563L;ENSP00000417328:F594L;ENSP00000417980:F594L	ENSP00000334476:F563L	F	+	3	2	EHMT1	139789516	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.248000	0.51430	2.645000	0.89757	0.491000	0.48974	TTC	EHMT1	-	NULL		0.632	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140669695	1	no_errors	ENST00000460843	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140669695	C	G	140669695	3	3	60	1	0	0	0	0	1	0	0	0	4993	912	32	1	1824	1	EHMT1	9	140669695	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	1367384	140669695	543736	39	9292										
FRMPD2	143162	genome.wustl.edu	37	chr10	49383976	49383976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atatggcacactggtgttaaTgccaccctgaaaaacacaac	7	11	0	1	rs200957845		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr10:49383976T>C	ENST00000374201.3	-	23	3204	c.2902A>G	c.(2902-2904)Att>Gtt	p.I968V	FRMPD2_ENST00000474573.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.I936V|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.I943V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	968	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGTTAATGCCACCCTGA	0.532																																																	0													3	1	1					10																	49383976		81	163	244	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2902A>G	10.37:g.49383976T>C	ENSP00000363317:p.Ile968Val		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I968V	ENST00000374201.3	37	c.2902	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.452426	0.01080	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.26810	1.71;1.71;1.71	4.81	-0.335	0.12662	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.10723	0.0262	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.18863	0.006;0.031;0.016	B;B;B	0.23419	0.016;0.046;0.024	T	0.39165	-0.9627	9	0.21540	T	0.41	.	9.0019	0.36088	0.0:0.3679:0.0:0.6321	.	943;968;936	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	968;943;936	ENSP00000363317:I968V;ENSP00000307079:I943V;ENSP00000384339:I936V	ENSP00000307079:I943V	I	-	1	0	FRMPD2	49053982	0.623000	0.27094	0.520000	0.27837	0.722000	0.41435	0.524000	0.22940	-0.339000	0.08401	0.528000	0.53228	ATT	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	T	NM_152428		49383976	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.060	C	C	49383976	T	C	49383976	3	2	60	1	0	0	0	0	1	0	0	0	6076	1464	51	5	1055	5	FRMPD2	10	49383976	Missense_Mutation	SNP	T	TCGA-DS-A0VL-01A-21D-A10S-08		49383976	86150771	40	9293										
PHF21A	51317	genome.wustl.edu	37	chr11	45975137	45975137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tggggtgatggtgcggctctCtgtttgtttctcatctgttt	13	7	3	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr11:45975137C>T	ENST00000418153.2	-	10	1232	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Missense_Mutation_p.E346K|PHF21A_ENST00000257821.4_Missense_Mutation_p.E346K			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	345					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E346K(1)|p.E345K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTGCGGCTCTCTGTTTGTTTC	0.418																																																	2	Substitution - Missense(2)	cervix(2)											150	134	139					11																	45975137		2202	4299	6501	SO:0001583	missense	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1033G>A	11.37:g.45975137C>T	ENSP00000398824:p.Glu345Lys		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E346K	ENST00000418153.2	37	c.1036	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189559	0.78789	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.59638	0.25;0.25;0.25	5.93	5.93	0.95920	.	0.449206	0.26314	N	0.025093	T	0.73297	0.3569	M	0.66939	2.045	0.54753	D	0.999988	B;B;D	0.56035	0.105;0.009;0.974	B;B;D	0.70487	0.023;0.015;0.969	T	0.64592	-0.6371	10	0.10377	T	0.69	-11.1215	20.3495	0.98807	0.0:1.0:0.0:0.0	.	345;346;346	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	K	346;346;345	ENSP00000257821:E346K;ENSP00000323152:E346K;ENSP00000398824:E345K	ENSP00000257821:E346K	E	-	1	0	PHF21A	45931713	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.284000	0.65627	2.814000	0.96858	0.591000	0.81541	GAG	PHF21A	-	NULL		0.418	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	C	NM_016621		45975137	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45975137	C	T	45975137	3	4	60	1	0	0	0	0	1	0	0	0	11857	922	32	1	1072	1	PHF21A	11	45975137	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		45975137	89031379	41	9294										
ODZ4	26011	genome.wustl.edu	37	chr11	78412896	78412896	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cttgccggtggtatcaaacaGatagagctcctggtcaattg	11	9	2	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr11:78412896G>A	ENST00000278550.7	-	28	5224	c.4762C>T	c.(4762-4764)Ctg>Ttg	p.L1588L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1588					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.L1588L(2)									GTATCAAACAGATAGAGCTCC	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											126	129	128					11																	78412896		2039	4177	6216	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4762C>T	11.37:g.78412896G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L1588	ENST00000278550.7	37	c.4762	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.507	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	G			78412896	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	1.000	A	A	78412896	G	A	78412896	2	1	60	1	0	0	0	0	0	0	0	1	10861	933	33	1		1	ODZ4	11	78412896	Silent	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	32437759	78412896	56593620	42	9295										
FAT3	120114	genome.wustl.edu	37	chr11	92086050	92086050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agctttatgttcacattgagCgcataaatgaacatgcccca	7	10	1	2	rs538781318		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr11:92086050C>T	ENST00000298047.6	+	1	789	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	FAT3_ENST00000409404.2_Missense_Mutation_p.R258C|FAT3_ENST00000541502.1_Missense_Mutation_p.R258C|FAT3_ENST00000525166.1_Missense_Mutation_p.R108C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R258C(2)|p.R258S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACATTGAGCGCATAAATGA	0.428										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	8e-04	0	5008	,	,		21189	0		0	False		,,,				2504	0																4	Substitution - Missense(4)	cervix(2)|lung(2)											186	178	181					11																	92086050		2000	4175	6175	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.772C>T	11.37:g.92086050C>T	ENSP00000298047:p.Arg258Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R258C	ENST00000298047.6	37	c.772		11	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603479	0.66445	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	4.83	4.83	0.62350	.	.	.	.	.	T	0.76557	0.4004	L	0.56769	1.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.78940	-0.2006	9	0.66056	D	0.02	.	17.2694	0.87097	0.0:1.0:0.0:0.0	.	258	Q8TDW7-3	.	C	258;258;258;108	ENSP00000298047:R258C;ENSP00000387040:R258C;ENSP00000443786:R258C;ENSP00000432586:R108C	ENSP00000298047:R258C	R	+	1	0	FAT3	91725698	1.000000	0.71417	0.953000	0.39169	0.741000	0.42261	7.752000	0.85141	2.359000	0.80004	0.557000	0.71058	CGC	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92086050	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92086050	C	T	92086050	3	4	60	1	0	0	0	0	1	0	0	0	5709	768	27	2	774	2	FAT3	11	92086050	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	13673154	92086050	42920466	43	9296										
FAT3	120114	genome.wustl.edu	37	chr11	92088452	92088452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gtaaaggaaaactcacgcatTggaacaagcgtgctgcaggt	12	8	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr11:92088452T>C	ENST00000298047.6	+	1	3191	c.3174T>C	c.(3172-3174)atT>atC	p.I1058I	FAT3_ENST00000409404.2_Silent_p.I1058I|FAT3_ENST00000541502.1_Silent_p.I1058I|FAT3_ENST00000525166.1_Silent_p.I908I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1058	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1058I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCACGCATTGGAACAAGCG	0.498										TCGA Ovarian(4;0.039)																																							2	Substitution - coding silent(2)	cervix(2)											107	102	104					11																	92088452		2033	4191	6224	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3174T>C	11.37:g.92088452T>C			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1058	ENST00000298047.6	37	c.3174		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.498	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		T	NM_001008781		92088452	1	no_errors	ENST00000298047	ensembl	human	known	70_37	silent	SNP	0.994	C	C	92088452	T	C	92088452	2	2	60	1	0	0	0	0	0	0	0	1	5709	1800	63	5		5	FAT3	11	92088452	Silent	SNP	T	TCGA-DS-A0VL-01A-21D-A10S-08	2402	92088452	42918064	44	9297										
SCN8A	6334	genome.wustl.edu	37	chr12	52139775	52139775	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ctcctacgggcggaaggacaGaatcaacagtataatgagtg	12	8	1	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr12:52139775G>C	ENST00000354534.6	+	13	2265	c.2087G>C	c.(2086-2088)aGa>aCa	p.R696T	SCN8A_ENST00000545061.1_Missense_Mutation_p.R696T|SCN8A_ENST00000550891.1_Missense_Mutation_p.R696T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	696					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.R696T(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CGGAAGGACAGAATCAACAGT	0.393																																																	2	Substitution - Missense(2)	cervix(2)											106	104	104					12																	52139775		1872	4090	5962	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2087G>C	12.37:g.52139775G>C	ENSP00000346534:p.Arg696Thr		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R696T	ENST00000354534.6	37	c.2087	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708894	0.68615	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.18	4.29	0.51040	Domain of unknown function DUF3451 (1);	0.117105	0.64402	D	0.000018	D	0.95541	0.8551	M	0.76938	2.355	0.58432	D	0.999999	D;D;B;D	0.76494	0.999;0.98;0.275;0.999	D;P;B;D	0.72982	0.979;0.718;0.172;0.978	D	0.96063	0.9040	10	0.87932	D	0	.	14.3391	0.66614	0.0713:0.0:0.9287:0.0	.	696;707;696;696	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	T	696;696;696;696;609	ENSP00000448415:R696T;ENSP00000346534:R696T;ENSP00000440360:R696T;ENSP00000347255:R696T	ENSP00000346534:R696T	R	+	2	0	SCN8A	50426042	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.263000	0.95617	1.554000	0.49487	-0.150000	0.13652	AGA	SCN8A	-	pfam_DUF3451		0.393	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52139775	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52139775	G	C	52139775	3	2	60	1	0	0	0	0	1	0	0	0	13954	942	33	1	2133	1	SCN8A	12	52139775	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08		52139775	81712120	45	9298										
MON2	23041	genome.wustl.edu	37	chr12	62895398	62895398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atgctccttattggctagtgGgcatgacagaaatgactcgg	12	8	0	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr12:62895398G>A	ENST00000393632.2	+	7	1100	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	MON2_ENST00000552115.1_Missense_Mutation_p.G237S|MON2_ENST00000552738.1_Missense_Mutation_p.G237S|MON2_ENST00000280379.6_Missense_Mutation_p.G237S|MON2_ENST00000393629.2_Missense_Mutation_p.G237S|MON2_ENST00000393630.3_Missense_Mutation_p.G237S|MON2_ENST00000546600.1_Missense_Mutation_p.G237S|MON2_ENST00000549378.1_3'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	237					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G237S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGGCTAGTGGGCATGACAGA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											124	118	120					12																	62895398		2203	4300	6503	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.709G>A	12.37:g.62895398G>A	ENSP00000377252:p.Gly237Ser		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.G237S	ENST00000393632.2	37	c.709	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.921014	0.97105	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66099	-0.19;-0.05;-0.05;-0.19;-0.19;-0.05;0.49	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.65498	2.005	0.80722	D	1	D;P;P;D;D	0.89917	1.0;0.933;0.925;1.0;1.0	D;P;P;D;D	0.97110	0.997;0.886;0.848;1.0;1.0	T	0.77429	-0.2591	9	.	.	.	-7.8861	18.4671	0.90760	0.0:0.0:1.0:0.0	.	237;237;237;237;237	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4;Q7Z3U7	.;.;.;.;MON2_HUMAN	S	237;237;237;237;165;237;237;237	ENSP00000377252:G237S;ENSP00000377250:G237S;ENSP00000280379:G237S;ENSP00000447407:G237S;ENSP00000449215:G237S;ENSP00000377249:G237S;ENSP00000446635:G237S	.	G	+	1	0	MON2	61181665	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.837000	0.99465	2.473000	0.83533	0.460000	0.39030	GGC	MON2	-	superfamily_ARM-type_fold		0.388	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	G	NM_015026		62895398	1	no_errors	ENST00000393630	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62895398	G	A	62895398	3	1	60	1	0	0	0	0	1	0	0	0	9723	1232	43	4	735	4	MON2	12	62895398	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	10755623	62895398	70956497	46	9299										
MGAT4C	25834	genome.wustl.edu	37	chr12	86373207	86373207	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gtttccatttttgaattctcCtagtcttaagtaagtagaac	6	7	2	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr12:86373207C>A	ENST00000604798.1	-	8	2501	c.1297G>T	c.(1297-1299)Gga>Tga	p.G433*	MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.G462*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.G433*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.G433*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.G433*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.G433*			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	433					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.G433*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGAATTCTCCTAGTCTTAAG	0.343																																																	1	Substitution - Nonsense(1)	cervix(1)											78	78	78					12																	86373207		2203	4299	6502	SO:0001587	stop_gained	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1297G>T	12.37:g.86373207C>A	ENSP00000474896:p.Gly433*		B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.G462*	ENST00000604798.1	37	c.1384	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.237117	0.95240	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.1738	19.9607	0.97248	0.0:1.0:0.0:0.0	.	.	.	.	X	433;462;433;433;433;433	.	ENSP00000331664:G433X	G	-	1	0	MGAT4C	84897338	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	GGA	MGAT4C	-	NULL		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373207	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	86373207	C	A	86373207	4	1	60	1	0	0	0	0	0	1	0	0	9570	690	24	4	143	4	MGAT4C	12	86373207	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	23477809	86373207	47478688	47	9300										
TXNRD1	7296	genome.wustl.edu	37	chr12	104725378	104725378	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atggtgcttgtggcctttctGaggagaaagctgtggagaag	16	5	1	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr12:104725378G>C	ENST00000529546.1	+	11	1270	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502Q|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537Q|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387Q|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439Q|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387Q|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387Q|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437Q|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486Q|TXNRD1_ENST00000526691.1_Missense_Mutation_p.E439Q|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456Q|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431Q|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431Q|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349Q|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537Q			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	537					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E537Q(2)|p.E387Q(2)|p.E537K(1)|p.E387K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGGCCTTTCTGAGGAGAAAGC	0.353																																					Ovarian(139;555 1836 9186 9946 10884)												6	Substitution - Missense(6)	urinary_tract(2)|cervix(2)|endometrium(2)											69	64	66					12																	104725378		1826	4081	5907	SO:0001583	missense	7296				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1045G>C	12.37:g.104725378G>C	ENSP00000434919:p.Glu349Gln		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.E537Q	ENST00000529546.1	37	c.1609	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.074625	0.94000	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	5.67	5.67	0.87782	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;0.999;0.999	D	0.99204	1.0874	10	0.87932	D	0	-33.965	19.8349	0.96652	0.0:0.0:1.0:0.0	.	437;431;537;439;387;537;502	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	Q	537;537;387;439;439;387;431;349;349;387;437;486;431;502;456	ENSP00000434516:E537Q;ENSP00000412045:E537Q;ENSP00000421934:E387Q;ENSP00000435929:E439Q;ENSP00000373506:E439Q;ENSP00000347020:E387Q;ENSP00000435123:E431Q;ENSP00000434919:E349Q;ENSP00000442709:E349Q;ENSP00000433425:E387Q;ENSP00000440978:E437Q;ENSP00000367310:E486Q;ENSP00000380844:E431Q;ENSP00000393328:E502Q;ENSP00000432812:E456Q	ENSP00000347020:E387Q	E	+	1	0	TXNRD1	103249508	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.532000	0.98057	2.693000	0.91896	0.650000	0.86243	GAG	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase		0.353	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	G	NM_003330		104725378	1	no_errors	ENST00000429002	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104725378	G	C	104725378	3	2	60	1	0	0	0	0	1	0	0	0	16838	1291	45	1	1677	1	TXNRD1	12	104725378	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	18352171	104725378	29126517	48	9301										
DNAH10	196385	genome.wustl.edu	37	chr12	124270380	124270380	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggatggtgtggatcatctccCgacactacaacaaagacgag	11	10	2	1	rs200542157		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr12:124270380C>T	ENST00000409039.3	+	9	1160	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	379	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R379*(1)|p.R197*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATCATCTCCCGACACTACAA	0.567													C|||	1	0.000199681	0	0	5008	,	,		16156	0.001		0	False		,,,				2504	0																2	Substitution - Nonsense(2)	cervix(2)											130	113	119					12																	124270380		2203	4300	6503	SO:0001587	stop_gained	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1135C>T	12.37:g.124270380C>T	ENSP00000386770:p.Arg379*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.R379*	ENST00000409039.3	37	c.1135	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	37	6.400232	0.97537	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.82	1.12	0.20585	.	0.100365	0.38492	N	0.001664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.738	0.85452	0.3996:0.6004:0.0:0.0	.	.	.	.	X	379	.	ENSP00000386770:R379X	R	+	1	2	DNAH10	122836333	0.291000	0.24352	0.027000	0.17364	0.991000	0.79684	0.823000	0.27366	0.288000	0.22398	0.561000	0.74099	CGA	DNAH10	-	pfam_Dynein_heavy_dom-1		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124270380	1	no_errors	ENST00000409039	ensembl	human	known	70_37	nonsense	SNP	0.125	T	T	124270380	C	T	124270380	4	4	60	1	0	0	0	0	0	1	0	0	4608	644	23	2	1169	2	DNAH10	12	124270380	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	19545002	124270380	9581515	49	9302										
TMEM132B	114795	genome.wustl.edu	37	chr12	126128683	126128683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aatgaagagcaaagtggacaCgattgtgaacttcacccacc	9	10	1	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr12:126128683C>T	ENST00000299308.3	+	6	1492	c.1484C>T	c.(1483-1485)aCg>aTg	p.T495M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.T7M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	495						integral component of membrane (GO:0016021)		p.T495M(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGTGGACACGATTGTGAAC	0.507																																																	1	Substitution - Missense(1)	cervix(1)											106	105	106					12																	126128683		2018	4177	6195	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1484C>T	12.37:g.126128683C>T	ENSP00000299308:p.Thr495Met		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.T495M	ENST00000299308.3	37	c.1484	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191203	0.38707	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.39592	1.07;1.07	5.52	5.52	0.82312	.	0.229812	0.37761	N	0.001941	T	0.33469	0.0864	L	0.29908	0.895	0.49389	D	0.999785	P	0.38978	0.652	B	0.31946	0.138	T	0.19943	-1.0290	10	0.54805	T	0.06	.	19.4324	0.94776	0.0:1.0:0.0:0.0	.	495	Q14DG7	T132B_HUMAN	M	495;7	ENSP00000299308:T495M;ENSP00000440436:T7M	ENSP00000299308:T495M	T	+	2	0	TMEM132B	124694636	1.000000	0.71417	0.972000	0.41901	0.076000	0.17211	5.363000	0.66104	2.578000	0.87016	0.655000	0.94253	ACG	TMEM132B	-	NULL		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	C	NM_052907		126128683	1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126128683	C	T	126128683	3	4	60	1	0	0	0	0	1	0	0	0	16076	536	19	2	1506	2	TMEM132B	12	126128683	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	1858303	126128683	7723212	50	9303										
ZMYM2	7750	genome.wustl.edu	37	chr13	20637063	20637063	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agacacagtccagcatgcctGatgtaccatatgaaccagat	8	11	0	4			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr13:20637063G>C	ENST00000382874.2	+	19	3179	c.2989G>C	c.(2989-2991)Gat>Cat	p.D997H	ZMYM2_ENST00000382871.2_Missense_Mutation_p.D997H|ZMYM2_ENST00000382869.3_Missense_Mutation_p.D997H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	997					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.D997H(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAGCATGCCTGATGTACCATA	0.363																																																	2	Substitution - Missense(2)	cervix(2)											85	87	86					13																	20637063		1866	4105	5971	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2989G>C	13.37:g.20637063G>C	ENSP00000372327:p.Asp997His		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.D997H	ENST00000382874.2	37	c.2989	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260259	0.80246	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18810	2.19	5.66	5.66	0.87406	.	0.093144	0.64402	D	0.000001	T	0.29620	0.0739	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.36418	0.224	T	0.06356	-1.0831	10	0.66056	D	0.02	-15.1043	19.7461	0.96252	0.0:0.0:1.0:0.0	.	997	Q9UBW7	ZMYM2_HUMAN	H	997;997;995;995;375	ENSP00000372322:D997H	ENSP00000372322:D997H	D	+	1	0	ZMYM2	19535063	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.155000	0.77445	2.645000	0.89757	0.650000	0.86243	GAT	ZMYM2	-	NULL		0.363	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	G	NM_003453		20637063	1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20637063	G	C	20637063	3	2	60	1	0	0	0	0	1	0	0	0	17730	1290	45	1	3051	1	ZMYM2	13	20637063	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08		20637063	94532815	51	9304										
SOS2	6655	genome.wustl.edu	37	chr14	50597312	50597312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tgtatttggagaggttggtgCtgacactgttgattccagct	13	6	0	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr14:50597312C>G	ENST00000216373.5	-	20	3518	c.3244G>C	c.(3244-3246)Gca>Cca	p.A1082P	SOS2_ENST00000543680.1_Missense_Mutation_p.A1049P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1082					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1082P(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAGGTTGGTGCTGACACTGTT	0.428																																																	2	Substitution - Missense(2)	cervix(2)											190	164	173					14																	50597312		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3244G>C	14.37:g.50597312C>G	ENSP00000216373:p.Ala1082Pro		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A1082P	ENST00000216373.5	37	c.3244	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448818	0.43531	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.80033	-1.33;-1.19	5.62	5.62	0.85841	.	0.168793	0.52532	D	0.000062	T	0.71417	0.3337	L	0.28115	0.83	0.40883	D	0.984015	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.01	T	0.67078	-0.5761	10	0.42905	T	0.14	.	15.169	0.72854	0.0:0.8594:0.1406:0.0	.	1049;1082	B7ZKT6;Q07890	.;SOS2_HUMAN	P	1082;1049	ENSP00000216373:A1082P;ENSP00000445328:A1049P	ENSP00000216373:A1082P	A	-	1	0	SOS2	49667062	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.112000	0.57845	2.657000	0.90304	0.484000	0.47621	GCA	SOS2	-	NULL		0.428	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50597312	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50597312	C	G	50597312	3	3	60	1	0	0	0	0	1	0	0	0	14967	797	28	4	770	4	SOS2	14	50597312	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		50597312	56752228	52	9305										
CLMN	79789	genome.wustl.edu	37	chr14	95670454	95670454	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tggacctcccgttctcctttCtggatgataaaatggaggat	10	9	2	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr14:95670454C>G	ENST00000298912.4	-	9	1345	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	411					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R411T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTTCTCCTTTCTGGATGATAA	0.493																																																	1	Substitution - Missense(1)	cervix(1)											101	99	99					14																	95670454		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1232G>C	14.37:g.95670454C>G	ENSP00000298912:p.Arg411Thr		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R411T	ENST00000298912.4	37	c.1232	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747445	0.49257	.	.	ENSG00000165959	ENST00000298912	D	0.94537	-3.45	5.91	3.87	0.44632	.	0.157587	0.29846	N	0.011059	D	0.94122	0.8115	M	0.62723	1.935	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	D	0.93089	0.6498	10	0.62326	D	0.03	.	5.8896	0.18899	0.0:0.747:0.0:0.253	.	411	Q96JQ2	CLMN_HUMAN	T	411	ENSP00000298912:R411T	ENSP00000298912:R411T	R	-	2	0	CLMN	94740207	.	.	0.960000	0.40013	0.160000	0.22226	.	.	1.505000	0.48720	-0.140000	0.14226	AGA	CLMN	-	NULL		0.493	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	C			95670454	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	missense	SNP	0.970	G	G	95670454	C	G	95670454	3	3	60	1	0	0	0	0	1	0	0	0	3547	913	32	1	1796	1	CLMN	14	95670454	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	45073142	95670454	11679086	53	9306										
C14orf73	91828	genome.wustl.edu	37	chr14	103566829	103566829	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cggtccttccggcaagccctGaatgacggcccagctaccgg	12	16	0	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr14:103566829G>C	ENST00000380069.3	+	1	349	c.273G>C	c.(271-273)ctG>ctC	p.L91L	RP11-736N17.8_ENST00000559843.1_RNA	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	91					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.L91L(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCAAGCCCTGAATGACGGCC	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											21	22	21					14																	103566829		2203	4299	6502	SO:0001819	synonymous_variant	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.273G>C	14.37:g.103566829G>C			Q14CR2	Silent	SNP	pfam_Sec6	p.L91	ENST00000380069.3	37	c.273	CCDS32163.1	14																																																																																			EXOC3L4	-	NULL		0.662	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1	G	XM_941093		103566829	1	no_errors	ENST00000380069	ensembl	human	known	70_37	silent	SNP	0.000	C	C	103566829	G	C	103566829	2	2	60	1	0	0	0	0	0	0	0	1	1783	1277	45	1		1	C14orf73	14	103566829	Silent	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	7896375	103566829	3782711	54	9307										
TUBGCP5	114791	genome.wustl.edu	37	chr15	22833552	22833552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggcacgggccaccgtggagtCggttggacgcgcagcaggag	19	11	0	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr15:22833552C>T	ENST00000283645.4	+	1	158	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R10W	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	10					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R10W(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACCGTGGAGTCGGTTGGACGC	0.697																																																	1	Substitution - Missense(1)	cervix(1)											8	9	9					15																	22833552		2119	4220	6339	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.28C>T	15.37:g.22833552C>T	ENSP00000283645:p.Arg10Trp		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.R10W	ENST00000283645.4	37	c.28	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	16.85	3.236031	0.58886	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.26660	1.73;1.72	5.23	-0.5	0.12012	.	1.048490	0.07430	N	0.895554	T	0.22820	0.0551	L	0.51422	1.61	0.09310	N	1	P;D	0.56968	0.926;0.978	B;B	0.42522	0.39;0.39	T	0.22765	-1.0207	10	0.62326	D	0.03	0.001	5.5139	0.16896	0.1034:0.6194:0.101:0.1761	.	10;10	Q96RT8;E9PB12	GCP5_HUMAN;.	W	10	ENSP00000283645:R10W;ENSP00000409217:R10W	ENSP00000283645:R10W	R	+	1	2	TUBGCP5	20384993	0.216000	0.23585	0.000000	0.03702	0.000000	0.00434	0.534000	0.23098	-0.276000	0.09206	-0.797000	0.03246	CGG	TUBGCP5	-	NULL		0.697	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	C	NM_052903		22833552	1	no_errors	ENST00000283645	ensembl	human	known	70_37	missense	SNP	0.000	T	T	22833552	C	T	22833552	3	4	60	1	0	0	0	0	1	0	0	0	16800	875	31	1	30	1	TUBGCP5	15	22833552	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		22833552	79697840	55	9308										
TYRO3	7301	genome.wustl.edu	37	chr15	41859705	41859705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tggggccctctccctatgctGactgggtgccctttcagacc	11	15	2	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr15:41859705G>C	ENST00000263798.3	+	7	1155	c.931G>C	c.(931-933)Gac>Cac	p.D311H	TYRO3_ENST00000559066.1_Missense_Mutation_p.D266H	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	311	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D303H(1)|p.D311H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCCCTATGCTGACTGGGTGCC	0.642																																																	2	Substitution - Missense(2)	cervix(2)											86	85	86					15																	41859705		2203	4300	6503	SO:0001583	missense	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.931G>C	15.37:g.41859705G>C	ENSP00000263798:p.Asp311His		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D311H	ENST00000263798.3	37	c.931	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155079	0.21371	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.55234	0.53	4.64	4.64	0.57946	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000407	T	0.36963	0.0986	N	0.17082	0.46	0.32440	N	0.546866	B	0.19706	0.038	B	0.14578	0.011	T	0.43540	-0.9385	10	0.36615	T	0.2	-25.7546	14.5246	0.67878	0.0:0.0:1.0:0.0	.	311	Q06418	TYRO3_HUMAN	H	243;311	ENSP00000263798:D311H	ENSP00000263798:D311H	D	+	1	0	TYRO3	39646997	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.565000	0.45939	2.417000	0.82017	0.655000	0.94253	GAC	TYRO3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	G			41859705	1	no_errors	ENST00000263798	ensembl	human	known	70_37	missense	SNP	0.999	C	C	41859705	G	C	41859705	3	2	60	1	0	0	0	0	1	0	0	0	16845	1290	45	1	957	1	TYRO3	15	41859705	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	19026153	41859705	60671687	56	9309										
SPG11	80208	genome.wustl.edu	37	chr15	44941174	44941174	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tctgtttaaaaactcttcttGagtcaaaccaaacaaaatca	3	9	5	1	rs312262728		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr15:44941174G>C	ENST00000261866.7	-	7	1508	c.1492C>G	c.(1492-1494)Caa>Gaa	p.Q498E	SPG11_ENST00000535302.2_Missense_Mutation_p.Q498E|SPG11_ENST00000427534.2_Missense_Mutation_p.Q498E|SPG11_ENST00000559193.1_Missense_Mutation_p.Q498E|SPG11_ENST00000558319.1_Missense_Mutation_p.Q498E	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	498					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Q498E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AACTCTTCTTGAGTCAAACCA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											87	85	85					15																	44941174		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1492C>G	15.37:g.44941174G>C	ENSP00000261866:p.Gln498Glu		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.Q498E	ENST00000261866.7	37	c.1492	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152171	0.78001	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;T	0.81579	-1.51;-1.27;-1.26	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.71581	2.175	0.52501	D	0.999958	D;D;D;D	0.89917	1.0;1.0;0.996;0.999	D;D;D;D	0.87578	0.996;0.996;0.984;0.998	D	0.89787	0.3965	10	0.72032	D	0.01	.	19.7539	0.96283	0.0:0.0:1.0:0.0	.	498;498;498;498	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	E	498	ENSP00000261866:Q498E;ENSP00000445278:Q498E;ENSP00000396110:Q498E	ENSP00000261866:Q498E	Q	-	1	0	SPG11	42728466	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.657000	0.83745	2.770000	0.95276	0.563000	0.77884	CAA	SPG11	-	NULL		0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44941174	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44941174	G	C	44941174	3	2	60	1	0	0	0	0	1	0	0	0	15071	1299	45	1	5975	1	SPG11	15	44941174	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	3081469	44941174	57590218	57	9310										
HEXA	3073	genome.wustl.edu	37	chr15	72638962	72638962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggggcagagagaagggcccgGaagccggccttggtgaccag	19	10	0	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr15:72638962G>A	ENST00000268097.5	-	11	1739	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	HEXA_ENST00000457859.2_Intron|HEXA_ENST00000566304.1_Silent_p.F423F|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Silent_p.F412F|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Silent_p.F239F	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	412					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.F412F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAGGGCCCGGAAGCCGGCCT	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											136	149	144					15																	72638962		2199	4297	6496	SO:0001819	synonymous_variant	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1236C>T	15.37:g.72638962G>A			B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.F412	ENST00000268097.5	37	c.1236	CCDS10243.1	15																																																																																			HEXA	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.498	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXA	HGNC	protein_coding	OTTHUMT00000257317.2	G	NM_000520		72638962	-1	no_errors	ENST00000268097	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72638962	G	A	72638962	2	1	60	1	0	0	0	0	0	0	0	1	7093	1165	41	1		1	HEXA	15	72638962	Silent	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	27697788	72638962	29892430	58	9311										
CHRNA5	1138	genome.wustl.edu	37	chr15	78882360	78882360	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gaggaccaagatgtagacaaGagagatttttttgataatgg	12	3	0	5			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr15:78882360G>C	ENST00000299565.5	+	5	827	c.627G>C	c.(625-627)aaG>aaC	p.K209N	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	209					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.K209N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	ATGTAGACAAGAGAGATTTTT	0.403																																																	2	Substitution - Missense(2)	cervix(1)|endometrium(1)											118	118	118					15																	78882360		2196	4293	6489	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.627G>C	15.37:g.78882360G>C	ENSP00000299565:p.Lys209Asn		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K209N	ENST00000299565.5	37	c.627	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447622	0.43429	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	T	0.79141	-1.24	5.37	2.41	0.29592	Neurotransmitter-gated ion-channel ligand-binding (3);	0.087086	0.85682	D	0.000000	T	0.77909	0.4201	L	0.37697	1.125	0.80722	D	1	D	0.53745	0.962	P	0.60286	0.872	T	0.77156	-0.2691	10	0.72032	D	0.01	.	8.8328	0.35093	0.3924:0.0:0.6076:0.0	.	209	P30532	ACHA5_HUMAN	N	209;160	ENSP00000299565:K209N	ENSP00000299565:K209N	K	+	3	2	CHRNA5	76669415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.981000	0.29526	0.736000	0.32559	0.655000	0.94253	AAG	CHRNA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.403	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	G			78882360	1	no_errors	ENST00000299565	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78882360	G	C	78882360	3	2	60	1	0	0	0	0	1	0	0	0	3391	933	33	1	645	1	CHRNA5	15	78882360	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	6243398	78882360	23649032	59	9312										
GRIN2A	2903	genome.wustl.edu	37	chr16	9858383	9858383	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agctgccggggtctagagttCgctttggattctgtgctcac	13	10	3	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:9858383C>T	ENST00000396573.2	-	14	3327	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000396575.2_Silent_p.A1006A|GRIN2A_ENST00000562109.1_Silent_p.A1006A|GRIN2A_ENST00000535259.1_Silent_p.A849A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A1006A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCTAGAGTTCGCTTTGGATT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											93	92	93					16																	9858383		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3018G>A	16.37:g.9858383C>T			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A1006	ENST00000396573.2	37	c.3018	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9858383	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	0.109	T	T	9858383	C	T	9858383	2	4	60	1	0	0	0	0	0	0	0	1	6799	871	31	1		1	GRIN2A	16	9858383	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		9858383	80496370	60	9313										
SEPHS2	22928	genome.wustl.edu	37	chr16	30456484	30456484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	catgagtggcgttaccttttCgcgttcctcctcactcatac	7	14	2	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:30456484C>T	ENST00000478753.2	-	1	1018	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	SEPHS2_ENST00000542752.1_Missense_Mutation_p.E132K|SEPHS2_ENST00000500504.2_Missense_Mutation_p.E189K			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	189					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.E189K(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GTTACCTTTTCGCGTTCCTCC	0.542																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												1	Substitution - Missense(1)	cervix(1)											119	115	116					16																	30456484		2160	4251	6411	SO:0001583	missense	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.565G>A	16.37:g.30456484C>T	ENSP00000418669:p.Glu189Lys		Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.E132K	ENST00000478753.2	37	c.394		16	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885980	0.33348	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.29917	1.55;1.55;1.55	5.64	4.7	0.59300	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.159251	0.56097	N	0.000040	T	0.19765	0.0475	N	0.19112	0.55	0.80722	D	1	B;B	0.20164	0.042;0.008	B;B	0.14023	0.01;0.008	T	0.04961	-1.0915	10	0.23891	T	0.37	-10.0612	12.5595	0.56273	0.0:0.9193:0.0:0.0807	.	189;132	Q99611;F5H8F9	SPS2_HUMAN;.	K	189;132;140;189	ENSP00000418669:E189K;ENSP00000443601:E132K;ENSP00000426234:E189K	ENSP00000390233:E140K	E	-	1	0	SEPHS2	30363985	1.000000	0.71417	0.027000	0.17364	0.090000	0.18270	5.731000	0.68554	1.535000	0.49220	0.655000	0.94253	GAA	SEPHS2	-	pfam_AIR_synth_N_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD		0.542	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	C	NM_012248		30456484	-1	no_errors	ENST00000542752	ensembl	human	known	70_37	missense	SNP	0.994	T	T	30456484	C	T	30456484	3	4	60	1	0	0	0	0	1	0	0	0	14085	893	31	1	785	1	SEPHS2	16	30456484	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	20598101	30456484	59898269	61	9314										
SNX20	124460	genome.wustl.edu	37	chr16	50707548	50707548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aaggcctcggcggggcggtcGaggtcgcggtggcacagcag	20	11	0	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:50707548G>A	ENST00000330943.4	-	4	891	c.720C>T	c.(718-720)ctC>ctT	p.L240L	RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	240					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGGGGCGGTCGAGGTCGCGGT	0.751																																																	0													4	5	5					16																	50707548		1753	3448	5201	SO:0001819	synonymous_variant	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.720C>T	16.37:g.50707548G>A			A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L240	ENST00000330943.4	37	c.720	CCDS10745.1	16																																																																																			SNX20	-	NULL		0.751	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	G	NM_153337		50707548	-1	no_errors	ENST00000330943	ensembl	human	known	70_37	silent	SNP	0.864	A	A	50707548	G	A	50707548	2	1	60	1	0	0	0	0	0	0	0	1	14922	1045	37	1		1	SNX20	16	50707548	Silent	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	20251064	50707548	39647205	62	9315										
NLRC5	84166	genome.wustl.edu	37	chr16	57075481	57075481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tgccacctcggtcacctccaCctcgagtgagtggtttgtgt	11	13	1	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:57075481C>G	ENST00000262510.6	+	18	3249	c.3024C>G	c.(3022-3024)caC>caG	p.H1008Q	NLRC5_ENST00000436936.1_Missense_Mutation_p.H1008Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.H1008Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.H1008Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1008					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.H1008Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCACCTCCACCTCGAGTGAG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											73	69	70					16																	57075481		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3024C>G	16.37:g.57075481C>G	ENSP00000262510:p.His1008Gln		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.H1008Q	ENST00000262510.6	37	c.3024	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.81|13.81	2.348345|2.348345	0.41599|0.41599	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	3.84|3.84	1.74|1.74	0.24563|0.24563	.|.	.|.	.|.	.|.	.|.	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.08118|0.08118	0|0	0.21064|0.21064	N|N	0.999792|0.999792	D;B;B;P|.	0.69078|.	0.997;0.213;0.141;0.917|.	D;B;B;P|.	0.65684|.	0.937;0.108;0.079;0.732|.	T|T	0.25082|0.25082	-1.0142|-1.0142	9|5	0.38643|.	T|.	0.18|.	.|.	5.2003|5.2003	0.15260|0.15260	0.0:0.7021:0.0:0.2979|0.0:0.7021:0.0:0.2979	.|.	1008;1008;1008;1008|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	Q|A	1008;1008;1008;482;1008;515;307|761	ENSP00000262510:H1008Q;ENSP00000308886:H1008Q;ENSP00000389739:H1008Q;ENSP00000441727:H1008Q;ENSP00000441597:H515Q;ENSP00000440153:H307Q|.	ENSP00000262510:H1008Q|.	H|P	+|+	3|1	2|0	NLRC5|NLRC5	55632982|55632982	0.014000|0.014000	0.17966|0.17966	0.542000|0.542000	0.28115|0.28115	0.104000|0.104000	0.19210|0.19210	-0.088000|-0.088000	0.11198|0.11198	0.496000|0.496000	0.27904|0.27904	-0.345000|-0.345000	0.07892|0.07892	CAC|CCT	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.517	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	C	NM_032206		57075481	1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.614	G	G	57075481	C	G	57075481	3	3	60	1	0	0	0	0	1	0	0	0	10494	506	18	4	3086	4	NLRC5	16	57075481	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	6367933	57075481	33279272	63	9316										
CCDC135	84229	genome.wustl.edu	37	chr16	57760115	57760115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	accacatcacggcctccaagCgcgagttcctgcggcgcacc	10	18	1	0	rs143054335	byFrequency	TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:57760115C>T	ENST00000360716.3	+	14	2115	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	CCDC135_ENST00000336825.8_Missense_Mutation_p.R567C|CCDC135_ENST00000394337.4_Missense_Mutation_p.R632C			Q8IY82	CC135_HUMAN		632					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.R632C(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCCTCCAAGCGCGAGTTCCT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											68	61	63					16																	57760115		2198	4298	6496	SO:0001583	missense	84229																														ENST00000360716.3:c.1894C>T	16.37:g.57760115C>T	ENSP00000353942:p.Arg632Cys		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.R632C	ENST00000360716.3	37	c.1894	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	c	19.47	3.834278	0.71373	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.14893	2.64;2.47;2.64	4.98	3.98	0.46160	.	0.278210	0.32884	N	0.005530	T	0.40145	0.1105	M	0.85630	2.765	0.44562	D	0.997523	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.32375	-0.9909	10	0.72032	D	0.01	-26.7085	6.3029	0.21123	0.3095:0.6029:0.0:0.0876	.	567;632	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	632;567;632	ENSP00000377869:R632C;ENSP00000338938:R567C;ENSP00000353942:R632C	ENSP00000338938:R567C	R	+	1	0	CCDC135	56317616	0.998000	0.40836	0.988000	0.46212	0.979000	0.70002	0.647000	0.24812	2.325000	0.78763	0.655000	0.94253	CGC	CCDC135	-	NULL		0.662	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	C			57760115	1	no_errors	ENST00000360716	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57760115	C	T	57760115	3	4	60	1	0	0	0	0	1	0	0	0	2774	768	27	2	1940	2	CCDC135	16	57760115	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	684634	57760115	32594638	64	9317										
WDR59	79726	genome.wustl.edu	37	chr16	74999681	74999681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gcttacttacccagaaagcaCtgcatgctgcccaagacagt	8	13	0	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:74999681C>G	ENST00000262144.6	-	2	224	c.94G>C	c.(94-96)Gtg>Ctg	p.V32L	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	32								p.V32L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGAAAGCACTGCATGCTGC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											119	110	113					16																	74999681		2198	4300	6498	SO:0001583	missense	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.94G>C	16.37:g.74999681C>G	ENSP00000262144:p.Val32Leu		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V32L	ENST00000262144.6	37	c.94	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068900	0.20147	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.69561	-0.41	5.6	5.6	0.85130	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	N	0.22421	0.69	0.80722	D	1	P;B	0.47910	0.902;0.021	D;B	0.64595	0.927;0.026	T	0.64377	-0.6422	10	0.19147	T	0.46	-15.9885	17.7982	0.88579	0.0:1.0:0.0:0.0	.	32;32	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	L	32;11	ENSP00000262144:V32L	ENSP00000262144:V32L	V	-	1	0	WDR59	73557182	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.300000	0.72776	2.654000	0.90174	0.561000	0.74099	GTG	WDR59	-	superfamily_WD40_repeat_dom		0.498	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	C	NM_030581		74999681	-1	no_errors	ENST00000262144	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74999681	C	G	74999681	3	3	60	1	0	0	0	0	1	0	0	0	17339	565	20	4	2930	4	WDR59	16	74999681	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	17239566	74999681	15355072	65	9318										
GINS2	51659	genome.wustl.edu	37	chr16	85722474	85722474	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aatggtaaccagctccttctCggcgaggaattcgacctcgg	11	12	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:85722474C>A	ENST00000253462.3	-	1	131	c.31G>T	c.(31-33)Gag>Tag	p.E11*	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	11					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AGCTCCTTCTCGGCGAGGAAT	0.682																																																	0													28	23	25					16																	85722474		2163	4227	6390	SO:0001587	stop_gained	51659			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.31G>T	16.37:g.85722474C>A	ENSP00000253462:p.Glu11*		D3DUM5|Q6IAG9	Nonsense_Mutation	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.E11*	ENST00000253462.3	37	c.31	CCDS10953.1	16	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881404	0.91740	.	.	ENSG00000131153	ENST00000253462	.	.	.	3.94	2.99	0.34606	.	0.064498	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-32.0537	10.3871	0.44148	0.0:0.9005:0.0:0.0995	.	.	.	.	X	11	.	ENSP00000253462:E11X	E	-	1	0	GINS2	84279975	1.000000	0.71417	0.940000	0.37924	0.132000	0.20833	5.828000	0.69307	0.879000	0.35944	-0.339000	0.08088	GAG	GINS2	-	pirsf_GINS_Psf2_subgr		0.682	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	C	NM_016095		85722474	-1	no_errors	ENST00000253462	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	85722474	C	A	85722474	4	1	60	1	0	0	0	0	0	1	0	0	6407	893	31	3	546	3	GINS2	16	85722474	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	10722793	85722474	4632279	66	9319										
CBFA2T3	863	genome.wustl.edu	37	chr16	88952492	88952492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gggccaagtactgggcgggcGtctgcttggccaggcgtgca	18	11	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr16:88952492G>A	ENST00000268679.4	-	6	1166	c.770C>T	c.(769-771)aCg>aTg	p.T257M	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.T171M|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.T171M|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.T181M|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.T232M	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	257	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTGGGCGGGCGTCTGCTTGGC	0.657			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0																																										SO:0001583	missense	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.770C>T	16.37:g.88952492G>A	ENSP00000268679:p.Thr257Met		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.T257M	ENST00000268679.4	37	c.770	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957741	0.34565	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.06	1.82	0.25136	TAFH/NHR1 (3);	0.165435	0.52532	D	0.000072	T	0.49490	0.1560	L	0.38175	1.15	0.44736	D	0.99773	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;D;D;D	0.72338	0.826;0.976;0.977;0.954	T	0.44832	-0.9302	10	0.87932	D	0	-13.7268	9.8372	0.40977	0.0:0.3591:0.3932:0.2477	.	232;257;257;171	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	M	171;257;232;181;171	ENSP00000332122:T171M;ENSP00000268679:T257M;ENSP00000395739:T232M;ENSP00000401254:T181M;ENSP00000353449:T171M	ENSP00000268679:T257M	T	-	2	0	CBFA2T3	87479993	0.997000	0.39634	0.550000	0.28217	0.013000	0.08279	2.438000	0.44837	0.193000	0.20303	0.462000	0.41574	ACG	CBFA2T3	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO		0.657	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	G	NM_005187		88952492	-1	no_errors	ENST00000268679	ensembl	human	known	70_37	missense	SNP	0.998	A	A	88952492	G	A	88952492	3	1	60	1	0	0	0	0	1	0	0	0	2703	1145	40	2	1219	2	CBFA2T3	16	88952492	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	3230018	88952492	1402261	67	9320										
MED1	5469	genome.wustl.edu	37	chr17	37604118	37604118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggttaaattttgcatggagcCgttccaggagagaactcatc	11	8	1	1	rs372091824		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr17:37604118C>T	ENST00000394287.3	-	2	270	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	MED1_ENST00000300651.6_Missense_Mutation_p.R22Q			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.R22Q(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCATGGAGCCGTTCCAGGAG	0.393										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG	0,4406		0,0,2203	152	137	142		65	5.7	1	17		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED1	NM_004774.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	22/1582	37604118	1,13005	2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.65G>A	17.37:g.37604118C>T	ENSP00000377828:p.Arg22Gln		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.R22Q	ENST00000394287.3	37	c.65		17	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052212	0.55218	0.0	1.16E-4	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.34072	1.38	5.65	5.65	0.86999	.	.	.	.	.	T	0.32346	0.0826	L	0.27053	0.805	0.39988	D	0.975	D;P	0.53619	0.961;0.938	B;B	0.42386	0.325;0.386	T	0.20207	-1.0282	9	0.66056	D	0.02	-6.1371	19.3899	0.94576	0.0:1.0:0.0:0.0	.	22;22	Q15648;Q15648-3	MED1_HUMAN;.	Q	22	ENSP00000300651:R22Q	ENSP00000300651:R22Q	R	-	2	0	MED1	34857644	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.502000	0.53332	2.679000	0.91253	0.558000	0.71614	CGG	MED1	-	NULL		0.393	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37604118	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37604118	C	T	37604118	3	4	60	1	0	0	0	0	1	0	0	0	9448	652	23	2	4744	2	MED1	17	37604118	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		37604118	43591092	68	9321										
MAP3K14	9020	genome.wustl.edu	37	chr17	43351847	43351847	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ttaccttccagcagctccatGaagatgttgacccaaggccc	8	14	0	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr17:43351847G>A	ENST00000344686.2	-	0	1509							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)	p.F468F(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGCTCCATGAAGATGTTGA	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											62	66	64					17																	43351847		2042	4197	6239			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43351847G>A			A8K2D8|D3DX67|Q8IYN1	RNA	SNP	-	NULL	ENST00000344686.2	37	NULL		17																																																																																			MAP3K14	-	-		0.537	MAP3K14-201	KNOWN	basic	processed_transcript	MAP3K14	HGNC	processed_transcript		G	NM_003954		43351847	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	1.000	A	A	43351847	G	A	43351847	1	1	60	0	1	0	0	0	0	0	0	0	9271	1281	45	1		1	MAP3K14	17	43351847	RNA	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	5747729	43351847	37843363	69	9322										
CDH2	1000	genome.wustl.edu	37	chr18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aaaataagggttttcatttaCgtcaataactgtaacagaca	6	6	2	1	rs201148355		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468																																																	1	Substitution - Missense(1)	cervix(1)						C	ILE/VAL	0,4406		0,0,2203	133	123	127		1471	6.2	1	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	491/907	25570188	1,13005	2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1471G>A	18.37:g.25570188C>T	ENSP00000269141:p.Val491Ile		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.V491I	ENST00000269141.3	37	c.1471	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871347	0.72065	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62232	0.04;0.04	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.056760	0.64402	D	0.000001	T	0.61476	0.2350	L	0.49699	1.58	0.80722	D	1	B;B	0.17268	0.021;0.007	B;B	0.08055	0.003;0.001	T	0.53961	-0.8364	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	460;491	A8MWK3;P19022	.;CADH2_HUMAN	I	491;460	ENSP00000269141:V491I;ENSP00000382312:V460I	ENSP00000269141:V491I	V	-	1	0	CDH2	23824186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GTA	CDH2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	C	NM_001792		25570188	-1	no_errors	ENST00000269141	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25570188	C	T	25570188	3	4	60	1	0	0	0	0	1	0	0	0	3110	536	19	2	1277	2	CDH2	18	25570188	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		25570188	52507060	70	9323										
ST8SIA3	51046	genome.wustl.edu	37	chr18	55020123	55020123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tcgccagtgtgctggggctgGtcatgctcagcgtcgccctg	15	13	2	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr18:55020123G>A	ENST00000324000.3	+	1	2080	c.46G>A	c.(46-48)Gtc>Atc	p.V16I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	16					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.V16I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTGGGGCTGGTCATGCTCAG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											66	64	65					18																	55020123		2203	4300	6503	SO:0001583	missense	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.46G>A	18.37:g.55020123G>A	ENSP00000320431:p.Val16Ile		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V16I	ENST00000324000.3	37	c.46	CCDS32834.1	18	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825918	0.50739	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.49139	0.79	4.55	2.7	0.31948	.	0.195530	0.43260	N	0.000581	T	0.34483	0.0899	L	0.44542	1.39	0.50467	D	0.999875	B	0.02656	0.0	B	0.04013	0.001	T	0.08785	-1.0705	10	0.17369	T	0.5	.	8.6077	0.33784	0.0869:0.1537:0.7593:0.0	.	16	O43173	SIA8C_HUMAN	I	123;16	ENSP00000320431:V16I	ENSP00000320431:V16I	V	+	1	0	ST8SIA3	53171121	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.327000	0.43858	0.345000	0.23873	0.491000	0.48974	GTC	ST8SIA3	-	pirsf_Sialyl_trans		0.602	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	G	NM_015879		55020123	1	no_errors	ENST00000324000	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55020123	G	A	55020123	3	1	60	1	0	0	0	0	1	0	0	0	15263	1261	44	4	48	4	ST8SIA3	18	55020123	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	29449935	55020123	23057125	71	9324										
KDM4B	23030	genome.wustl.edu	37	chr19	5135504	5135504	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ggagccgctgcctgccaactCctacatcggcgacgacggga	13	15	0	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:5135504C>G	ENST00000159111.4	+	15	2458	c.2240C>G	c.(2239-2241)tCc>tGc	p.S747C	KDM4B_ENST00000536461.1_Missense_Mutation_p.S781C	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	747					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.S747C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGCCAACTCCTACATCGGC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											48	39	42					19																	5135504		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2240C>G	19.37:g.5135504C>G	ENSP00000159111:p.Ser747Cys		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S747C	ENST00000159111.4	37	c.2240	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502800	0.85176	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.19669	2.15;2.13	4.22	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.143626	0.48767	D	0.000178	T	0.46521	0.1397	M	0.73598	2.24	0.50039	D	0.99984	D;D	0.76494	0.999;0.999	D;D	0.68192	0.947;0.956	T	0.54523	-0.8281	10	0.87932	D	0	-43.3582	16.5853	0.84726	0.0:1.0:0.0:0.0	.	781;747	F5GX28;O94953	.;KDM4B_HUMAN	C	747;781	ENSP00000159111:S747C;ENSP00000440495:S781C	ENSP00000159111:S747C	S	+	2	0	KDM4B	5086504	1.000000	0.71417	0.959000	0.39883	0.948000	0.59901	7.727000	0.84838	1.905000	0.55150	0.561000	0.74099	TCC	KDM4B	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5135504	1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5135504	C	G	5135504	3	3	60	1	0	0	0	0	1	0	0	0	8149	855	30	1	2290	1	KDM4B	19	5135504	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		5135504	53993479	72	9325										
PNPLA6	10908	genome.wustl.edu	37	chr19	7626141	7626141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atgaggaggacgccggacccGactgctcgagggatgaaggg	18	9	0	2	rs144558473		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:7626141G>A	ENST00000221249.6	+	34	4278	c.3847G>A	c.(3847-3849)Gac>Aac	p.D1283N	PNPLA6_ENST00000600737.1_Missense_Mutation_p.D1321N|PNPLA6_ENST00000450331.3_Missense_Mutation_p.D1283N|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D1256N|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D1331N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1322					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCCGGACCCGACTGCTCGAG	0.657																																																	0								G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	20	25	23		3991,3766,3847,3961,3847	3.5	0.9	19	dbSNP_134	23	1,8597		0,1,4298	no	missense,missense,missense,missense,missense	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	23,23,23,23,23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	1331/1376,1256/1301,1283/1328,1321/1366,1283/1328	7626141	1,13003	2203	4299	6502	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3847G>A	19.37:g.7626141G>A	ENSP00000221249:p.Asp1283Asn		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D1331N	ENST00000221249.6	37	c.3991	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	g	14.80	2.644589	0.47258	0.0	1.16E-4	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.05717	3.44;3.49;3.4;3.44	4.55	3.46	0.39613	.	0.303789	0.26470	U	0.024200	T	0.12732	0.0309	L	0.58101	1.795	0.44523	D	0.997474	D;D;D;P	0.59357	0.969;0.985;0.982;0.824	B;P;P;B	0.54499	0.372;0.754;0.576;0.391	T	0.08597	-1.0714	10	0.21540	T	0.41	-18.6081	11.7662	0.51933	0.0:0.0:0.8243:0.1757	.	1322;1256;1321;1283	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	N	1283;1256;1331;1283	ENSP00000221249:D1283N;ENSP00000443323:D1256N;ENSP00000407509:D1331N;ENSP00000394348:D1283N	ENSP00000221249:D1283N	D	+	1	0	PNPLA6	7532141	1.000000	0.71417	0.874000	0.34290	0.020000	0.10135	6.522000	0.73783	2.363000	0.80096	0.561000	0.74099	GAC	PNPLA6	-	NULL		0.657	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	G	NM_006702		7626141	1	no_errors	ENST00000414982	ensembl	human	known	70_37	missense	SNP	0.985	A	A	7626141	G	A	7626141	3	1	60	1	0	0	0	0	1	0	0	0	12193	1058	37	1	4117	1	PNPLA6	19	7626141	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	2490637	7626141	51502842	73	9326										
SNAPC2	6618	genome.wustl.edu	37	chr19	7987549	7987549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	caccgagaaggccgagcacaGcgaactgaaatcgccttggc	12	13	0	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:7987549G>A	ENST00000221573.6	+	5	956	c.905G>A	c.(904-906)aGc>aAc	p.S302N	SNAPC2_ENST00000597584.1_Missense_Mutation_p.S65N	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	302					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GCCGAGCACAGCGAACTGAAA	0.667																																																	0													80	104	96					19																	7987549		2203	4300	6503	SO:0001583	missense	6618			U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.905G>A	19.37:g.7987549G>A	ENSP00000221573:p.Ser302Asn		B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	pfam_SnAPC_su2-like	p.S302N	ENST00000221573.6	37	c.905	CCDS12190.1	19	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694775	0.30052	.	.	ENSG00000104976	ENST00000221573	T	0.53857	0.6	4.46	-4.55	0.03441	.	1.738350	0.02720	N	0.113853	T	0.46698	0.1406	L	0.60455	1.87	0.09310	N	1	B	0.23937	0.094	B	0.25614	0.062	T	0.45338	-0.9268	10	0.51188	T	0.08	2.1892	5.9782	0.19393	0.0917:0.5606:0.2163:0.1313	.	302	Q13487	SNPC2_HUMAN	N	302	ENSP00000221573:S302N	ENSP00000221573:S302N	S	+	2	0	SNAPC2	7893549	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.106000	0.10890	-0.400000	0.07656	0.455000	0.32223	AGC	SNAPC2	-	pfam_SnAPC_su2-like		0.667	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC2	HGNC	protein_coding	OTTHUMT00000461358.1	G	NM_003083		7987549	1	no_errors	ENST00000221573	ensembl	human	known	70_37	missense	SNP	0.000	A	A	7987549	G	A	7987549	3	1	60	1	0	0	0	0	1	0	0	0	14865	971	34	4	923	4	SNAPC2	19	7987549	Missense_Mutation	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	361408	7987549	51141434	74	9327										
OR7G1	125962	genome.wustl.edu	37	chr19	9225923	9225923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	acagaagaacaaagggatttCaacgtttttgcagaaggaca	10	6	1	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:9225923C>T	ENST00000541538.1	-	1	516	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	OR7G1_ENST00000293614.1_Missense_Mutation_p.E173K	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E173K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AAAGGGATTTCAACGTTTTTG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											121	113	115					19																	9225923		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.517G>A	19.37:g.9225923C>T	ENSP00000444134:p.Glu173Lys		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E173K	ENST00000541538.1	37	c.517	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	c	11.09	1.535644	0.27475	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00123	8.7;8.7	3.78	0.186	0.15105	GPCR, rhodopsin-like superfamily (1);	0.182670	0.25916	U	0.027471	T	0.00144	0.0004	L	0.41356	1.27	0.09310	N	1	B	0.24092	0.097	B	0.33690	0.168	T	0.27773	-1.0064	10	0.52906	T	0.07	.	5.0896	0.14700	0.0:0.4606:0.354:0.1853	.	173	Q8NGA0	OR7G1_HUMAN	K	173	ENSP00000293614:E173K;ENSP00000444134:E173K	ENSP00000293614:E173K	E	-	1	0	OR7G1	9086923	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.079000	0.03410	0.312000	0.23038	-0.505000	0.04504	GAA	OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	C			9225923	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9225923	C	T	9225923	3	4	60	1	0	0	0	0	1	0	0	0	11246	835	29	1	492	1	OR7G1	19	9225923	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	1238374	9225923	49903060	75	9328										
ACTN4	81	genome.wustl.edu	37	chr19	39219695	39219695	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cccaaccatagcggccttgtGaccttccaagccttcatcga	7	16	1	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:39219695G>A	ENST00000252699.2	+	20	2554	c.2478G>A	c.(2476-2478)gtG>gtA	p.V826V	ACTN4_ENST00000424234.2_Silent_p.V436V|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.V607V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	826	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V826V(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGGCCTTGTGACCTTCCAAG	0.597																																					Colon(168;199 1940 10254 46213 46384)												1	Substitution - coding silent(1)	cervix(1)											131	102	112					19																	39219695		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2478G>A	19.37:g.39219695G>A			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.V826	ENST00000252699.2	37	c.2478	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.597	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	G			39219695	1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39219695	G	A	39219695	2	1	60	1	0	0	0	0	0	0	0	1	207	1277	45	1		1	ACTN4	19	39219695	Silent	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	29993772	39219695	19909288	76	9329										
KCNJ14	3770	genome.wustl.edu	37	chr19	48965011	48965011	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gccagggccctacgccgcctCagcggcgccctggattcggg	15	17	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:48965011C>T	ENST00000391884.1	+	1	506	c.30C>T	c.(28-30)ctC>ctT	p.L10L	KCNJ14_ENST00000342291.2_Silent_p.L10L			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	10					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TACGCCGCCTCAGCGGCGCCC	0.731																																					NSCLC(148;170 3504 35216)												0													2	3	2					19																	48965011		1422	3136	4558	SO:0001819	synonymous_variant	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.30C>T	19.37:g.48965011C>T				Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.L10	ENST00000391884.1	37	c.30	CCDS12721.1	19																																																																																			KCNJ14	-	NULL		0.731	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48965011	1	no_errors	ENST00000342291	ensembl	human	known	70_37	silent	SNP	0.029	T	T	48965011	C	T	48965011	2	4	60	1	0	0	0	0	0	0	0	1	8068	813	29	1		1	KCNJ14	19	48965011	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	9745316	48965011	10163972	77	9330										
SHANK1	50944	genome.wustl.edu	37	chr19	51169762	51169762	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	caccggtgggacttctggctCtacagccaccggaccccccg	11	18	2	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:51169762C>G	ENST00000293441.1	-	22	5473	c.5455G>C	c.(5455-5457)Gag>Cag	p.E1819Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.E1827Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.E1206Q|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1810Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1819					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.E1819Q(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACTTCTGGCTCTACAGCCACC	0.726																																																	1	Substitution - Missense(1)	cervix(1)											5	6	5					19																	51169762		2092	4122	6214	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5455G>C	19.37:g.51169762C>G	ENSP00000293441:p.Glu1819Gln		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E1827Q	ENST00000293441.1	37	c.5479	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	C	8.018	0.758899	0.15846	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39592	1.19;1.6;1.17;1.07	2.06	2.06	0.26882	.	4.537710	0.01465	U	0.016020	T	0.34919	0.0914	N	0.12746	0.255	0.27614	N	0.948572	P;D	0.56968	0.92;0.978	B;P	0.50049	0.26;0.629	T	0.44205	-0.9343	10	0.15066	T	0.55	.	9.7994	0.40755	0.0:1.0:0.0:0.0	.	1819;1206	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	1819;1206;1810;1827	ENSP00000293441:E1819Q;ENSP00000375689:E1206Q;ENSP00000351984:E1810Q;ENSP00000375690:E1827Q	ENSP00000293441:E1819Q	E	-	1	0	SHANK1	55861574	0.151000	0.22747	0.776000	0.31678	0.537000	0.34900	3.327000	0.52045	1.460000	0.47911	0.195000	0.17529	GAG	SHANK1	-	NULL		0.726	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	C	NM_016148		51169762	-1	no_errors	ENST00000391814	ensembl	human	known	70_37	missense	SNP	0.964	G	G	51169762	C	G	51169762	3	3	60	1	0	0	0	0	1	0	0	0	14294	922	32	1	1038	1	SHANK1	19	51169762	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	2204751	51169762	7959221	78	9331										
KLK3	354	genome.wustl.edu	37	chr19	51361307	51361307	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aaagcgtgatcttgctgggtCggcacagcctgtttcatcct	11	11	2	1	rs146422657	byFrequency	TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr19:51361307C>G	ENST00000326003.2	+	3	270	c.229C>G	c.(229-231)Cgg>Ggg	p.R77G	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.R77G|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.R77G	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	77	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R77G(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CTTGCTGGGTCGGCACAGCCT	0.542																																					Colon(185;1767 2023 13025 30120 37630)												2	Substitution - Missense(2)	cervix(2)											60	52	55					19																	51361307		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.229C>G	19.37:g.51361307C>G	ENSP00000314151:p.Arg77Gly		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R77G	ENST00000326003.2	37	c.229	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372845	0.42105	.	.	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.88741	-2.42;-2.42	2.31	-0.0166	0.13971	.	0.247838	0.21280	N	0.077168	D	0.85141	0.5629	N	0.13140	0.3	0.09310	N	0.999998	D;D	0.71674	0.983;0.998	D;D	0.68765	0.929;0.96	T	0.74907	-0.3504	10	0.87932	D	0	.	4.6508	0.12594	0.0:0.4115:0.4445:0.144	.	77;77	Q8NCW4;G3XAE3	.;.	G	77	ENSP00000314151:R77G;ENSP00000353829:R77G	ENSP00000314151:R77G	R	+	1	2	KLK3	56053119	0.000000	0.05858	0.004000	0.12327	0.254000	0.26022	-0.114000	0.10757	0.067000	0.16545	0.505000	0.49811	CGG	KLK3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.542	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	C	NM_145864		51361307	1	no_errors	ENST00000326003	ensembl	human	known	70_37	missense	SNP	0.190	G	G	51361307	C	G	51361307	3	3	60	1	0	0	0	0	1	0	0	0	8425	875	31	1	243	1	KLK3	19	51361307	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	191545	51361307	7767676	79	9332										
NCOA6	23054	genome.wustl.edu	37	chr20	33356297	33356297	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	tgccataggaaatcccgcctCcatcctaactgaatttccag	6	14	0	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr20:33356297C>A	ENST00000374796.2	-	6	3054	c.484G>T	c.(484-486)Gag>Tag	p.E162*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.E162*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	162	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.E162*(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AATCCCGCCTCCATCCTAACT	0.448																																																	1	Substitution - Nonsense(1)	cervix(1)											147	129	135					20																	33356297		2203	4300	6503	SO:0001587	stop_gained	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.484G>T	20.37:g.33356297C>A	ENSP00000363929:p.Glu162*		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	NULL	p.E162*	ENST00000374796.2	37	c.484	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	53	21.620878	0.99942	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	.	.	.	5.56	5.56	0.83823	.	0.085391	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.4877	19.5248	0.95199	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000351894:E162X	E	-	1	0	NCOA6	32819958	1.000000	0.71417	0.983000	0.44433	0.044000	0.14063	7.453000	0.80700	2.621000	0.88768	0.591000	0.81541	GAG	NCOA6	-	NULL		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	C	NM_014071		33356297	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	33356297	C	A	33356297	4	1	60	1	0	0	0	0	0	1	0	0	10257	864	30	3	5751	3	NCOA6	20	33356297	Nonsense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		33356297	29669223	80	9333										
SLC32A1	140679	genome.wustl.edu	37	chr20	37356217	37356217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	atcctcatcgcgtgcctgtaCgaggagaatgaagacggcga	13	10	1	3	rs143574180		TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr20:37356217C>T	ENST00000217420.1	+	2	776	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	171					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.Y171Y(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGTGCCTGTACGAGGAGAATG	0.652																																																	1	Substitution - coding silent(1)	cervix(1)						C		0,4406		0,0,2203	78	63	68		513	3.2	1	20	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC32A1	NM_080552.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		171/526	37356217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.513C>T	20.37:g.37356217C>T			Q8N489	Silent	SNP	pfam_AA_transpt_TM	p.Y171	ENST00000217420.1	37	c.513	CCDS13307.1	20																																																																																			SLC32A1	-	pfam_AA_transpt_TM		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	C	NM_080552		37356217	1	no_errors	ENST00000217420	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37356217	C	T	37356217	2	4	60	1	0	0	0	0	0	0	0	1	14595	547	19	2		2	SLC32A1	20	37356217	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	3999920	37356217	25669303	81	9334										
TPTE	7179	genome.wustl.edu	37	chr21	10942949	10942949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	ttatcagcttttcaagttgtCttttttgatgaaacagatga	7	5	3	4			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr21:10942949C>T	ENST00000361285.4	-	12	967	c.638G>A	c.(637-639)aGa>aAa	p.R213K	TPTE_ENST00000342420.5_Missense_Mutation_p.R175K|TPTE_ENST00000298232.7_Missense_Mutation_p.R195K|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	213					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R195K(1)|p.R213K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCAAGTTGTCTTTTTTGATG	0.323																																																	2	Substitution - Missense(2)	cervix(2)											94	87	90					21																	10942949		2203	4299	6502	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.638G>A	21.37:g.10942949C>T	ENSP00000355208:p.Arg213Lys		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R213K	ENST00000361285.4	37	c.638	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	6.682	0.494506	0.12702	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98381	-4.9;-4.9;-4.9	2.07	2.07	0.26955	Ion transport (1);	0.166921	0.52532	U	0.000074	D	0.94981	0.8376	N	0.22421	0.69	0.36008	D	0.83786	B;B;B	0.24317	0.042;0.082;0.101	B;B;B	0.37091	0.051;0.091;0.241	D	0.92281	0.5833	10	0.16420	T	0.52	-13.1627	10.2257	0.43225	0.0:1.0:0.0:0.0	.	175;195;213	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	195;213;175	ENSP00000298232:R195K;ENSP00000355208:R213K;ENSP00000344441:R175K	ENSP00000298232:R195K	R	-	2	0	TPTE	9964820	0.999000	0.42202	0.868000	0.34077	0.079000	0.17450	0.422000	0.21296	1.470000	0.48102	0.194000	0.17425	AGA	TPTE	-	pfam_Ion_trans_dom		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	C			10942949	-1	no_errors	ENST00000361285	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10942949	C	T	10942949	3	4	60	1	0	0	0	0	1	0	0	0	16461	913	32	1	1069	1	TPTE	21	10942949	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		10942949	37186946	82	9335										
THAP7	80764	genome.wustl.edu	37	chr22	21354220	21354220	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	aagtcctgcacatgctccttCagagtctggcgggcatctgc	11	13	3	1			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr22:21354220C>T	ENST00000215742.4	-	4	1053	c.879G>A	c.(877-879)ctG>ctA	p.L293L	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Silent_p.L293L	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	293					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)	p.L293L(2)		cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGCTCCTTCAGAGTCTGGC	0.657																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											31	32	32					22																	21354220		2201	4298	6499	SO:0001819	synonymous_variant	80764			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.879G>A	22.37:g.21354220C>T			B2RD97|D3DX40	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L293	ENST00000215742.4	37	c.879	CCDS13787.1	22																																																																																			THAP7	-	NULL		0.657	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	C	NM_030573		21354220	-1	no_errors	ENST00000215742	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21354220	C	T	21354220	2	4	60	1	0	0	0	0	0	0	0	1	15879	813	29	1		1	THAP7	22	21354220	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		21354220	29950346	83	9336										
MYH9	4627	genome.wustl.edu	37	chr22	36690135	36690136	+	Intron	INS	-	-	A													0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agggtcctggcggaggcctcINSacctgcagcttggtgacctt							TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr22:36690135_36690136insA	ENST00000216181.5	-	28	4068					NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCGGAGGCCTCACCTGCAGCTT	0.639			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0																																										SO:0001627	intron_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3837+1->T	22.37:g.36690136_36690136dupA			A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	INS	-	e27+2	ENST00000216181.5	37	c.3837+2_3837+1	CCDS13927.1	22																																																																																			MYH9	-	-		0.639	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	NM_002473		36690136	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	A	A	36690136	-	A	36690135	6	5	60	0	1	1	1	0	0	0	0	0	10065	841	29	0		0	MYH9	22	36690135	Intron	INS	-	TCGA-DS-A0VL-01A-21D-A10S-08	15335915	36690135	14614431	84	9337										
SGSM3	57591	genome.wustl.edu	37	chr22	40803462	40803462	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	agagccaccagcgggaccacGagaactacgtggcgtgctca	13	13	1	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr22:40803462G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.E472K|SGSM3_ENST00000454798.2_Missense_Mutation_p.E405K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E472K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCGGGACCACGAGAACTACGT	0.632			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Substitution - Missense(1)	cervix(1)											32	33	33					22																	40803462		2202	4300	6502	SO:0001628	intergenic_variant	27352			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803462G>A			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.E472K	ENST00000355630.3	37	c.1414	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415359	0.83449	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.14893	2.58;2.47	5.41	5.41	0.78517	.	0.118916	0.64402	D	0.000011	T	0.22085	0.0532	M	0.72118	2.19	0.80722	D	1	B;B;P;P	0.47409	0.427;0.427;0.895;0.798	B;B;B;B	0.36289	0.066;0.066;0.175;0.221	T	0.08289	-1.0729	10	0.45353	T	0.12	.	19.1834	0.93632	0.0:0.0:1.0:0.0	.	409;405;500;472	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	K	472;405	ENSP00000248929:E472K;ENSP00000390998:E405K	ENSP00000248929:E472K	E	+	1	0	SGSM3	39133408	1.000000	0.71417	0.997000	0.53966	0.685000	0.39939	9.229000	0.95273	2.529000	0.85273	0.561000	0.74099	GAG	SGSM3	-	NULL		0.632	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321522.1	G	NM_020831		40803462	1	no_errors	ENST00000248929	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40803462	G	A	40803462	1	1	60	0	1	0	0	0	0	0	0	0	14254	1059	37	1		1	SGSM3	22	40803462	IGR	SNP	G	TCGA-DS-A0VL-01A-21D-A10S-08	4113327	40803462	10501104	85	9338										
PPPDE2	27351	genome.wustl.edu	37	chr22	41999352	41999352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	acttcgttgctgaaggtgttAcaattgtgttcaaagaggtt	11	5	1	2			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chr22:41999352A>G	ENST00000263256.6	-	5	580	c.324T>C	c.(322-324)tgT>tgC	p.C108C	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	108	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)	p.C108C(1)									TGAAGGTGTTACAATTGTGTT	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											219	187	197					22																	41999352		2203	4300	6503	SO:0001819	synonymous_variant	27351			AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"family with sequence similarity 152, member B", "PPPDE peptidase domain containing 2"	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.324T>C	22.37:g.41999352A>G				Silent	SNP	pfam_DUF862_euk	p.C108	ENST00000263256.6	37	c.324	CCDS33652.1	22																																																																																			DESI1	-	pfam_DUF862_euk		0.463	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DESI1	HGNC	protein_coding	OTTHUMT00000104124.3	A	NM_015704		41999352	-1	no_errors	ENST00000263256	ensembl	human	novel	70_37	silent	SNP	1.000	G	G	41999352	A	G	41999352	2	3	60	1	0	0	0	0	0	0	0	1	12436	389	14	5		5	PPPDE2	22	41999352	Silent	SNP	A	TCGA-DS-A0VL-01A-21D-A10S-08	1195890	41999352	9305214	86	9339										
RPGR	6103	genome.wustl.edu	37	chrX	38146175	38146175	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cttctctgctagttccttctCtccctctcctggcctctcca	4	19	4	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chrX:38146175C>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E693Q|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.E693Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						agttccttctctccctctcct	0.522																																																	1	Substitution - Missense(1)	cervix(1)											199	146	164					X																	38146175		2201	4297	6498	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+171G>C	X.37:g.38146175C>G			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E693Q	ENST00000339363.3	37	c.2077		X	.	.	.	.	.	.	.	.	.	.	c	5.833	0.337961	0.11013	.	.	ENSG00000156313	ENST00000378505	T	0.59502	0.26	2.48	1.54	0.23209	.	1.175510	0.06783	U	0.785563	T	0.48909	0.1526	L	0.49126	1.545	0.24552	N	0.994016	B	0.30281	0.275	B	0.20767	0.031	T	0.29488	-1.0010	10	0.29301	T	0.29	.	9.5959	0.39573	0.0:0.7871:0.2129:0.0	.	693	E9PE28	.	Q	693	ENSP00000367766:E693Q	ENSP00000367766:E693Q	E	-	1	0	RPGR	38031119	0.016000	0.18221	0.038000	0.18304	0.128000	0.20619	0.350000	0.20079	0.258000	0.21686	0.353000	0.21931	GAG	RPGR	-	NULL		0.522	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38146175	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	missense	SNP	0.440	G	G	38146175	C	G	38146175	1	3	60	0	1	0	0	0	0	0	0	0	13578	922	32	1		1	RPGR	23	38146175	Intron	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08		38146175	117124385	87	9340										
WAS	7454	genome.wustl.edu	37	chrX	48547408	48547408	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	gcctggcccctggtgggggtCggggagcgcttttggatcaa	18	10	1	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chrX:48547408C>A	ENST00000376701.4	+	10	1366	c.1291C>A	c.(1291-1293)Cgg>Agg	p.R431R		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	431	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.R431R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGGTGGGGGTCGGGGAGCGCT	0.677			"Mis, N, F, S"			lymphoma																																		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	1	Substitution - coding silent(1)	cervix(1)											8	9	8					X																	48547408		2063	4032	6095	SO:0001819	synonymous_variant	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1291C>A	X.37:g.48547408C>A			Q9BU11|Q9UNJ9	Silent	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.R431	ENST00000376701.4	37	c.1291	CCDS14303.1	X																																																																																			WAS	-	pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom		0.677	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	WAS	HGNC	protein_coding	OTTHUMT00000083379.1	C	NM_000377		48547408	1	no_errors	ENST00000376701	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48547408	C	A	48547408	2	1	60	1	0	0	0	0	0	0	0	1	17282	875	31	3		3	WAS	23	48547408	Silent	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	10401233	48547408	106723152	88	9341										
IQSEC2	23096	genome.wustl.edu	37	chrX	53278057	53278057	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	cagatactggatacccttctCtggcttcctgcagaaagagg	10	11	1	3			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chrX:53278057C>G	ENST00000375368.5	-	5	2475	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	IQSEC2_ENST00000396435.3_Missense_Mutation_p.E769Q|IQSEC2_ENST00000375365.2_Missense_Mutation_p.E564Q			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	759	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E766Q(1)|p.E769Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ATACCCTTCTCTGGCTTCCTG	0.532																																																	2	Substitution - Missense(2)	cervix(2)											44	30	35					X																	53278057		2203	4300	6503	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2275G>C	X.37:g.53278057C>G	ENSP00000364517:p.Glu759Gln		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.E769Q	ENST00000375368.5	37	c.2305		X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291021	0.80914	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.55234	0.53;0.53;0.53	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.66439	2.03	0.80722	D	1	P;D	0.71674	0.545;0.998	P;D	0.80764	0.502;0.994	T	0.73914	-0.3832	10	0.72032	D	0.01	.	17.9436	0.89032	0.0:1.0:0.0:0.0	.	769;564	Q5JU85-2;Q5JU85-3	.;.	Q	769;759;564	ENSP00000379712:E769Q;ENSP00000364517:E759Q;ENSP00000364514:E564Q	ENSP00000364514:E564Q	E	-	1	0	IQSEC2	53294782	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.818000	0.86416	2.513000	0.84729	0.600000	0.82982	GAG	IQSEC2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.532	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		C	XM_291345		53278057	-1	no_errors	ENST00000396435	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53278057	C	G	53278057	3	3	60	1	0	0	0	0	1	0	0	0	7838	922	32	1	2201	1	IQSEC2	23	53278057	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	4730649	53278057	101992503	89	9342										
WNK3	65267	genome.wustl.edu	37	chrX	54324625	54324625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.388888888888889	35	1.58292747326592e-11	3.54199851332696	5.39862850327967	2.51492660399142	0.637566145584799	0.830119679486248	25	taccatttcatatgctacttCctcaggtgtatctgtttcta	5	10	4	0			TCGA-DS-A0VL-01A-21D-A10S-08	TCGA-DS-A0VL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80482bf1-3ae3-4e8f-ba04-21192caf30d5	c1a153fd-d788-4e0f-b1a8-a3052a0f60b6	g.chrX:54324625C>T	ENST00000375159.2	-	6	1380	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	WNK3_ENST00000375169.3_Missense_Mutation_p.E461K|WNK3_ENST00000354646.2_Missense_Mutation_p.E461K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	461					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E461K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TATGCTACTTCCTCAGGTGTA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											208	185	192					X																	54324625		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1381G>A	X.37:g.54324625C>T	ENSP00000364301:p.Glu461Lys		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E461K	ENST00000375159.2	37	c.1381	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508108	0.85282	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.36340	1.26;1.26;1.26	5.04	4.14	0.48551	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.000000	0.51477	D	0.000096	T	0.43389	0.1245	L	0.39147	1.195	0.43073	D	0.994717	P;P	0.45902	0.84;0.868	P;P	0.54026	0.622;0.74	T	0.40059	-0.9583	10	0.54805	T	0.06	-13.9631	13.5759	0.61875	0.0:0.8474:0.1526:0.0	.	461;461	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	461	ENSP00000364312:E461K;ENSP00000346667:E461K;ENSP00000364301:E461K	ENSP00000346667:E461K	E	-	1	0	WNK3	54341350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.840000	0.69402	2.095000	0.63458	0.513000	0.50165	GAA	WNK3	-	pfam_Kinase_OSR1/WNK_CCT		0.363	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	C	NM_020922		54324625	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54324625	C	T	54324625	3	4	60	1	0	0	0	0	1	0	0	0	17410	864	30	1	4093	1	WNK3	23	54324625	Missense_Mutation	SNP	C	TCGA-DS-A0VL-01A-21D-A10S-08	1046568	54324625	100945935	90	9343										
CDK11B	8510	genome.wustl.edu	37	chr1	1572314	1572314	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acagggtcaccacgaccgggGtgtaggccttcagaggggat	16	10	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:1572314G>T	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Missense_Mutation_p.T538N|CDK11B_ENST00000317673.7_Missense_Mutation_p.T583N|CDK11B_ENST00000340677.5_Missense_Mutation_p.T572N|CDK11B_ENST00000407249.3_Missense_Mutation_p.T585N			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T585N(1)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CACGACCGGGGTGTAGGCCTT	0.687																																																	1	Substitution - Missense(1)	cervix(1)											39	49	46					1																	1572314		2064	4190	6254	SO:0001628	intergenic_variant	984				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572314G>T			A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	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.T585N	ENST00000356026.5	37	c.1754	CCDS30559.1	1																																																																																			CDK11B	-	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		0.687	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK11B	HGNC	protein_coding	OTTHUMT00000158492.2	G	NM_006983		1572314	-1	no_errors	ENST00000407249	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1572314	G	T	1572314	1	4	61	0	1	0	0	0	0	0	0	0	3132	1261	44	4		4	CDK11B	1	1572314	IGR	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08		1572314	247678307	1	9344										
CTNNBIP1	56998	genome.wustl.edu	37	chr1	9932074	9932074	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cagcactcggaccttctgctGaatgtacatctcctccggac	8	15	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:9932074G>A	ENST00000377263.1	-	4	360	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	CTNNBIP1_ENST00000537447.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377256.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377258.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000400904.3_Nonsense_Mutation_p.Q17*	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	17					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)	p.Q17*(1)		cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTTCTGCTGAATGTACATC	0.627																																																	1	Substitution - Nonsense(1)	cervix(1)											121	107	112					1																	9932074		2203	4300	6503	SO:0001587	stop_gained	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4"	607758	"catenin, beta-interacting protein 1"			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.49C>T	1.37:g.9932074G>A	ENSP00000366474:p.Gln17*		Q5T4V2	Nonsense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.Q17*	ENST00000377263.1	37	c.49	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.876079	0.98986	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3223	17.5659	0.87919	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	.	Q	-	1	0	CTNNBIP1	9854661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.011000	0.93618	2.451000	0.82905	0.484000	0.47621	CAG	CTNNBIP1	-	pfam_ICAT,superfamily_ICAT		0.627	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	G	NM_020248		9932074	-1	no_errors	ENST00000377256	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	9932074	G	A	9932074	4	1	61	1	0	0	0	0	0	1	0	0	4022	1299	45	1	208	1	CTNNBIP1	1	9932074	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8359760	9932074	239318547	2	9345										
PRAMEF12	390999	genome.wustl.edu	37	chr1	12835064	12835064	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctggctgagcagagtctgctGagagaccgggccttggccat	15	11	1	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:12835064G>A	ENST00000357726.4	+	1	81	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	18					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L18L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGTCTGCTGAGAGACCGGG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											51	60	57					1																	12835064		2202	4299	6501	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.54G>A	1.37:g.12835064G>A				Silent	SNP	NULL	p.L18	ENST00000357726.4	37	c.54	CCDS41254.1	1																																																																																			PRAMEF12	-	NULL		0.567	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	G	XM_372760		12835064	1	no_errors	ENST00000357726	ensembl	human	known	70_37	silent	SNP	0.019	A	A	12835064	G	A	12835064	2	1	61	1	0	0	0	0	0	0	0	1	12455	1277	45	1		1	PRAMEF12	1	12835064	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2902990	12835064	236415557	3	9346										
TMEM51	55092	genome.wustl.edu	37	chr1	15541908	15541908	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acccgacaggcgctgggcctCacgcccaggaggaagacagg	15	14	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:15541908C>G	ENST00000428417.1	+	2	771	c.325C>G	c.(325-327)Cac>Gac	p.H109D	TMEM51_ENST00000376008.2_Missense_Mutation_p.H109D|TMEM51_ENST00000400796.3_Missense_Mutation_p.H109D|TMEM51_ENST00000434578.2_Missense_Mutation_p.H109D|TMEM51_ENST00000376014.3_Missense_Mutation_p.H109D	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	109						integral component of membrane (GO:0016021)		p.H109D(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CGCTGGGCCTCACGCCCAGGA	0.632																																																	1	Substitution - Missense(1)	cervix(1)											26	23	24					1																	15541908		2201	4298	6499	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.325C>G	1.37:g.15541908C>G	ENSP00000394899:p.His109Asp		A8K819	Missense_Mutation	SNP	NULL	p.H109D	ENST00000428417.1	37	c.325	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	C	2.910	-0.225499	0.06022	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.25	5.25	0.73442	.	1.366400	0.03980	N	0.293048	T	0.25494	0.0620	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.07539	-1.0767	10	0.36615	T	0.2	-11.4259	9.309	0.37891	0.0:0.8974:0.0:0.1026	.	109;109	Q9BSA0;Q9NW97	.;TMM51_HUMAN	D	109	ENSP00000394899:H109D;ENSP00000365182:H109D;ENSP00000412298:H109D;ENSP00000409665:H109D;ENSP00000383600:H109D;ENSP00000365176:H109D	ENSP00000303666:H109D	H	+	1	0	TMEM51	15414495	0.013000	0.17824	0.004000	0.12327	0.062000	0.15995	2.562000	0.45914	2.462000	0.83206	0.655000	0.94253	CAC	TMEM51	-	NULL		0.632	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	C	NM_018022		15541908	1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.002	G	G	15541908	C	G	15541908	3	3	61	1	0	0	0	0	1	0	0	0	16207	826	29	1	327	1	TMEM51	1	15541908	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2706844	15541908	233708713	4	9347										
ARHGEF19	128272	genome.wustl.edu	37	chr1	16535286	16535286	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cgcatccccccgctggtgatCtctgtatctgagcctcctgg	10	16	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:16535286C>T	ENST00000270747.3	-	2	400	c.264G>A	c.(262-264)gaG>gaA	p.E88E	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	88					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E88E(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGTGATCTCTGTATCTG	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											22	26	25					1																	16535286		2201	4298	6499	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.264G>A	1.37:g.16535286C>T			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E88	ENST00000270747.3	37	c.264	CCDS170.1	1																																																																																			ARHGEF19	-	NULL		0.677	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	C	NM_153213		16535286	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	silent	SNP	0.001	T	T	16535286	C	T	16535286	2	4	61	1	0	0	0	0	0	0	0	1	902	912	32	1		1	ARHGEF19	1	16535286	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	993378	16535286	232715335	5	9348										
SESN2	83667	genome.wustl.edu	37	chr1	28599131	28599131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agcacacttggtccctggccGagctcattcaggctctggtc	11	14	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:28599131G>A	ENST00000253063.3	+	5	898	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	193					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E193K(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCCTGGCCGAGCTCATTCA	0.642																																																	1	Substitution - Missense(1)	cervix(1)											138	116	124					1																	28599131		2203	4300	6503	SO:0001583	missense	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.577G>A	1.37:g.28599131G>A	ENSP00000253063:p.Glu193Lys		Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.E193K	ENST00000253063.3	37	c.577	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.412605	0.96072	.	.	ENSG00000130766	ENST00000253063	T	0.54479	0.57	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.81475	-0.0916	10	0.87932	D	0	-20.13	18.9052	0.92458	0.0:0.0:1.0:0.0	.	193	P58004	SESN2_HUMAN	K	193	ENSP00000253063:E193K	ENSP00000253063:E193K	E	+	1	0	SESN2	28471718	1.000000	0.71417	0.943000	0.38184	0.892000	0.51952	9.378000	0.97191	2.568000	0.86640	0.591000	0.81541	GAG	SESN2	-	pfam_PA26		0.642	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	G			28599131	1	no_errors	ENST00000253063	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28599131	G	A	28599131	3	1	61	1	0	0	0	0	1	0	0	0	14155	1059	37	1	595	1	SESN2	1	28599131	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	12063845	28599131	220651490	6	9349										
ZBTB8A	653121	genome.wustl.edu	37	chr1	33058778	33058778	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tttacagttatcttggacttCgtatattctggcaaactgtc	7	8	2	0	rs144529739		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:33058778C>T	ENST00000373510.4	+	3	475	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Silent_p.F82F	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.F82F(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCTTGGACTTCGTATATTCTG	0.413																																																	1	Substitution - coding silent(1)	cervix(1)						C		5,4401	9.9+/-24.2	0,5,2198	113	108	110		246	-8.3	0.8	1	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	ZBTB8A	NM_001040441.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		82/442	33058778	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	653121			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.246C>T	1.37:g.33058778C>T			Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F82	ENST00000373510.4	37	c.246	CCDS30664.1	1																																																																																			ZBTB8A	-	pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.413	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	C	NM_144621		33058778	1	no_errors	ENST00000373510	ensembl	human	known	70_37	silent	SNP	0.904	T	T	33058778	C	T	33058778	2	4	61	1	0	0	0	0	0	0	0	1	17586	883	31	1		1	ZBTB8A	1	33058778	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4459647	33058778	216191843	7	9350										
C1orf94	84970	genome.wustl.edu	37	chr1	34663019	34663019	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctctagtggcaggcagtaatGagcgccccagagcctccatc	11	14	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:34663019G>A	ENST00000488417.1	+	2	634	c.514G>A	c.(514-516)Gag>Aag	p.E172K	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	172										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGGCAGTAATGAGCGCCCCAG	0.597																																																	0													18	22	21					1																	34663019		692	1591	2283	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.514G>A	1.37:g.34663019G>A	ENSP00000435634:p.Glu172Lys		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E172K	ENST00000488417.1	37	c.514	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909401	0.33721	.	.	ENSG00000142698	ENST00000488417	T	0.26067	1.76	4.83	2.84	0.33178	.	.	.	.	.	T	0.24236	0.0587	L	0.44542	1.39	0.09310	N	1	P	0.44139	0.827	B	0.41510	0.359	T	0.09122	-1.0689	9	0.66056	D	0.02	-14.2675	10.8654	0.46851	0.0:0.3999:0.6001:0.0	.	172	Q6P1W5	CA094_HUMAN	K	172	ENSP00000435634:E172K	ENSP00000435634:E172K	E	+	1	0	C1orf94	34435606	0.646000	0.27295	0.019000	0.16419	0.061000	0.15899	2.846000	0.48262	1.234000	0.43709	0.655000	0.94253	GAG	C1orf94	-	NULL		0.597	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	G	NM_032884		34663019	1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.003	A	A	34663019	G	A	34663019	3	1	61	1	0	0	0	0	1	0	0	0	2076	1291	45	1	520	1	C1orf94	1	34663019	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1604241	34663019	214587602	8	9351										
POU3F1	5453	genome.wustl.edu	37	chr1	38511656	38511656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cttggcgaactgctccaggtCgtccgagctgggcgcatcct	13	14	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:38511656C>T	ENST00000373012.2	-	1	794	c.760G>A	c.(760-762)Gac>Aac	p.D254N	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	254	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D254N(1)		cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCTCCAGGTCGTCCGAGCTG	0.726																																																	1	Substitution - Missense(1)	cervix(1)											33	31	31					1																	38511656		2203	4300	6503	SO:0001583	missense	5453			L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"Homeoboxes / POU class"	9214	protein-coding gene	gene with protein product		602479	"POU domain class 3, transcription factor 1"	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.760G>A	1.37:g.38511656C>T	ENSP00000362103:p.Asp254Asn		Q5TAG2	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.D254N	ENST00000373012.2	37	c.760	CCDS30679.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034847	0.75617	.	.	ENSG00000185668	ENST00000373012	D	0.83992	-1.79	3.34	2.42	0.29668	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	U	0.000000	D	0.84506	0.5487	L	0.39467	1.215	0.52099	D	0.999945	D	0.76494	0.999	D	0.70227	0.968	D	0.83545	0.0098	10	0.87932	D	0	.	8.3759	0.32442	0.0:0.8787:0.0:0.1213	.	254	Q03052	PO3F1_HUMAN	N	254	ENSP00000362103:D254N	ENSP00000362103:D254N	D	-	1	0	POU3F1	38284243	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.481000	0.66826	0.752000	0.32923	0.400000	0.26472	GAC	POU3F1	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific		0.726	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F1	HGNC	protein_coding	OTTHUMT00000001213.1	C	NM_002699		38511656	-1	no_errors	ENST00000373012	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38511656	C	T	38511656	3	4	61	1	0	0	0	0	1	0	0	0	12298	884	31	1	599	1	POU3F1	1	38511656	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3848637	38511656	210738965	9	9352										
DMAP1	55929	genome.wustl.edu	37	chr1	44684814	44684814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaacgcagccaggacctgcaGaagctgatcacagcggcaga	12	12	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:44684814G>C	ENST00000372289.2	+	6	1070	c.807G>C	c.(805-807)caG>caC	p.Q269H	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Missense_Mutation_p.Q269H|DMAP1_ENST00000315913.5_Missense_Mutation_p.Q269H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	269					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)	p.Q269H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGGACCTGCAGAAGCTGATCA	0.607																																																	1	Substitution - Missense(1)	cervix(1)											56	57	57					1																	44684814		2203	4300	6503	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.807G>C	1.37:g.44684814G>C	ENSP00000361363:p.Gln269His		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.Q269H	ENST00000372289.2	37	c.807	CCDS509.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450833	0.84209	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000315913;ENST00000372289	.	.	.	5.53	4.61	0.57282	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.63791	-0.6557	9	0.16420	T	0.52	-21.814	11.1268	0.48324	0.1415:0.0:0.8585:0.0	.	259;269	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	H	269	.	ENSP00000312697:Q269H	Q	+	3	2	DMAP1	44457401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.170000	0.50816	2.606000	0.88127	0.591000	0.81541	CAG	DMAP1	-	pfam_DMAP1		0.607	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3	G	NM_019100		44684814	1	no_errors	ENST00000315913	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44684814	G	C	44684814	3	2	61	1	0	0	0	0	1	0	0	0	4586	933	33	1	829	1	DMAP1	1	44684814	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6173158	44684814	204565807	10	9353										
PTCH2	8643	genome.wustl.edu	37	chr1	45293815	45293815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atgcccactggtactgtcccGtcccccagctcctggggcag	11	17	0	0	rs368278021		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:45293815G>A	ENST00000372192.3	-	14	1888	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	PTCH2_ENST00000447098.2_Silent_p.D586D	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	586					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.D586D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GTACTGTCCCGTCCCCCAGCT	0.587									Basal Cell Nevus syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		20803	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	69	74	72		1758,1758	-10.1	0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTCH2	NM_001166292.1,NM_003738.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	586/1147,586/1204	45293815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1758C>T	1.37:g.45293815G>A			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.D586	ENST00000372192.3	37	c.1758	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45293815	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	silent	SNP	0.000	A	A	45293815	G	A	45293815	2	1	61	1	0	0	0	0	0	0	0	1	12758	1136	40	2		2	PTCH2	1	45293815	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	609001	45293815	203956806	11	9354										
LRRC7	57554	genome.wustl.edu	37	chr1	70505043	70505043	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcatgagctgcccccaactgAtaggtacggcagacccccat	9	15	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:70505043A>T	ENST00000035383.5	+	19	3452	c.3422A>T	c.(3421-3423)gAt>gTt	p.D1141V	LRRC7_ENST00000310961.5_Missense_Mutation_p.D1146V|LRRC7_ENST00000415775.2_Missense_Mutation_p.D425V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1141						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D1141V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCCAACTGATAGGTACGGC	0.567																																																	1	Substitution - Missense(1)	cervix(1)											67	71	69					1																	70505043		2203	4300	6503	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3422A>T	1.37:g.70505043A>T	ENSP00000035383:p.Asp1141Val		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D1141V	ENST00000035383.5	37	c.3422	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813726	0.32053	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.48522	0.81;0.84;1.97	5.81	5.81	0.92471	.	0.254776	0.38778	N	0.001570	T	0.53706	0.1813	L	0.54323	1.7	0.80722	D	1	D;P;P	0.55800	0.973;0.739;0.808	P;P;B	0.61533	0.89;0.474;0.368	T	0.59080	-0.7521	10	0.87932	D	0	.	15.355	0.74421	1.0:0.0:0.0:0.0	.	425;1141;1141	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	V	1146;1141;425;964	ENSP00000309245:D1146V;ENSP00000035383:D1141V;ENSP00000394867:D425V	ENSP00000035383:D1141V	D	+	2	0	LRRC7	70277631	1.000000	0.71417	0.112000	0.21494	0.003000	0.03518	5.828000	0.69307	2.221000	0.72209	0.455000	0.32223	GAT	LRRC7	-	NULL		0.567	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	A	NM_020794		70505043	1	no_errors	ENST00000035383	ensembl	human	known	70_37	missense	SNP	0.871	T	T	70505043	A	T	70505043	3	4	61	1	0	0	0	0	1	0	0	0	9043	333	12	5	3496	5	LRRC7	1	70505043	Missense_Mutation	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08	25211228	70505043	178745578	12	9355										
LRRC40	55631	genome.wustl.edu	37	chr1	70641557	70641557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tagtagtataatttcatctgGaacagattttaacttgttat	6	4	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:70641557G>A	ENST00000370952.3	-	7	992	c.913C>T	c.(913-915)Cca>Tca	p.P305S		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	305						membrane (GO:0016020)		p.P305S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ATTTCATCTGGAACAGATTTT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											99	98	98					1																	70641557		2203	4299	6502	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.913C>T	1.37:g.70641557G>A	ENSP00000359990:p.Pro305Ser		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P305S	ENST00000370952.3	37	c.913	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731366	0.89390	.	.	ENSG00000066557	ENST00000370952	T	0.28069	1.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43686	-0.9376	10	0.72032	D	0.01	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	305	Q9H9A6	LRC40_HUMAN	S	305	ENSP00000359990:P305S	ENSP00000359990:P305S	P	-	1	0	LRRC40	70414145	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.048000	0.93830	2.567000	0.86603	0.585000	0.79938	CCA	LRRC40	-	smart_Leu-rich_rpt_typical-subtyp		0.338	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	G	NM_017768		70641557	-1	no_errors	ENST00000370952	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70641557	G	A	70641557	3	1	61	1	0	0	0	0	1	0	0	0	9021	1174	41	1	931	1	LRRC40	1	70641557	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	136514	70641557	178609064	13	9356										
HFM1	164045	genome.wustl.edu	37	chr1	91851246	91851246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaacacatttgcagaatactGaaatttttgcttactattgc	5	7	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:91851246G>A	ENST00000370425.3	-	5	738	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	214					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q214*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGAATACTGAAATTTTTGC	0.358																																																	1	Substitution - Nonsense(1)	cervix(1)											98	92	94					1																	91851246		2203	4300	6503	SO:0001587	stop_gained	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.640C>T	1.37:g.91851246G>A	ENSP00000359454:p.Gln214*		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q214*	ENST00000370425.3	37	c.640	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714204	0.30413	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	.	.	.	5.93	5.93	0.95920	.	8.814190	0.01748	U	0.029752	.	.	.	.	.	.	0.42367	D	0.992435	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.1712	0.65510	0.0:0.0:0.8507:0.1493	.	.	.	.	X	214;247;73;172	.	ENSP00000359454:Q214X	Q	-	1	0	HFM1	91623834	0.011000	0.17503	0.054000	0.19295	0.011000	0.07611	1.686000	0.37669	2.826000	0.97356	0.655000	0.94253	CAG	HFM1	-	NULL		0.358	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91851246	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	nonsense	SNP	0.018	A	A	91851246	G	A	91851246	4	1	61	1	0	0	0	0	0	1	0	0	7103	1299	45	1	3807	1	HFM1	1	91851246	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	21209689	91851246	157399375	14	9357										
AKNAD1	254268	genome.wustl.edu	37	chr1	109366000	109366000	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agatgtacttacagggtgaaGagtttttactttcatctaaa	8	5	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:109366000G>C	ENST00000370001.3	-	13	2427	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	AKNAD1_ENST00000369994.1_Missense_Mutation_p.S690C|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000369995.3_Missense_Mutation_p.S720C|AKNAD1_ENST00000357393.4_Missense_Mutation_p.S427C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	720						cytoplasm (GO:0005737)		p.S720C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACAGGGTGAAGAGTTTTTACT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											146	141	142					1																	109366000		2203	4300	6503	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2159C>G	1.37:g.109366000G>C	ENSP00000359018:p.Ser720Cys		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.S720C	ENST00000370001.3	37	c.2159	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814302	0.50527	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	4.9	4.9	0.64082	.	0.374053	0.19807	N	0.105623	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.98;0.982	T	0.05517	-1.0880	10	0.87932	D	0	-1.6	13.4419	0.61119	0.0:0.0:1.0:0.0	.	427;720	B4DET8;Q5T1N1	.;AKND1_HUMAN	C	720;427;690;720	ENSP00000359018:S720C;ENSP00000349968:S427C;ENSP00000359011:S690C;ENSP00000359012:S720C	ENSP00000349968:S427C	S	-	2	0	AKNAD1	109167523	0.947000	0.32204	0.040000	0.18447	0.023000	0.10783	2.583000	0.46094	2.541000	0.85698	0.655000	0.94253	TCT	AKNAD1	-	NULL		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	G	NM_152763		109366000	-1	no_errors	ENST00000370001	ensembl	human	known	70_37	missense	SNP	0.053	C	C	109366000	G	C	109366000	3	2	61	1	0	0	0	0	1	0	0	0	464	942	33	1	367	1	AKNAD1	1	109366000	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	17514754	109366000	139884621	15	9358										
CELSR2	1952	genome.wustl.edu	37	chr1	109794627	109794627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaccgtgatgctcatagtgtCatcacctaccagatcaccag	8	13	4	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:109794627C>T	ENST00000271332.3	+	1	1987	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	642	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V642V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATAGTGTCATCACCTACC	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - coding silent(1)	cervix(1)											222	198	206					1																	109794627		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1926C>T	1.37:g.109794627C>T			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V642	ENST00000271332.3	37	c.1926	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109794627	1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109794627	C	T	109794627	2	4	61	1	0	0	0	0	0	0	0	1	3227	813	29	1		1	CELSR2	1	109794627	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	428627	109794627	139455994	16	9359										
MTMR11	10903	genome.wustl.edu	37	chr1	149902287	149902287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gggagccaggaatctggacaGtgttctgggtcatagccagg	16	8	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:149902287G>C	ENST00000439741.2	-	15	1867	c.1617C>G	c.(1615-1617)caC>caG	p.H539Q	SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.H467Q|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	539	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.H539Q(1)|p.H467Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AATCTGGACAGTGTTCTGGGT	0.473																																																	2	Substitution - Missense(2)	cervix(2)											160	149	153					1																	149902287		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1617C>G	1.37:g.149902287G>C	ENSP00000391668:p.His539Gln		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.H539Q	ENST00000439741.2	37	c.1617	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594378	0.46214	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.89746	-2.56;-2.56	5.27	1.22	0.21188	Myotubularin phosphatase domain (1);	0.594387	0.18392	N	0.142624	T	0.62539	0.2436	N	0.24115	0.695	0.80722	D	1	B;P	0.37466	0.403;0.596	B;B	0.35607	0.206;0.143	T	0.55698	-0.8100	10	0.23302	T	0.38	.	4.2059	0.10488	0.2794:0.1714:0.5492:0.0	.	467;539	A4FU01-4;A4FU01	.;MTMRB_HUMAN	Q	467;539	ENSP00000358136:H467Q;ENSP00000391668:H539Q	ENSP00000358136:H467Q	H	-	3	2	MTMR11	148168911	0.194000	0.23325	0.991000	0.47740	0.958000	0.62258	-0.044000	0.12023	0.063000	0.16370	0.655000	0.94253	CAC	MTMR11	-	NULL		0.473	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149902287	-1	no_errors	ENST00000439741	ensembl	human	known	70_37	missense	SNP	0.996	C	C	149902287	G	C	149902287	3	2	61	1	0	0	0	0	1	0	0	0	9963	1020	36	4	563	4	MTMR11	1	149902287	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	40107660	149902287	99348334	17	9360										
CTSK	1513	genome.wustl.edu	37	chr1	150772128	150772128	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctcattcccctcggggatctCtctgtaccctctgcatttag	7	15	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:150772128C>G	ENST00000271651.3	-	6	786	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	226					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.E226Q(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGGATCTCTCTGTACCCT	0.502																																																	1	Substitution - Missense(1)	cervix(1)											156	146	150					1																	150772128		2203	4300	6503	SO:0001583	missense	1513			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.676G>C	1.37:g.150772128C>G	ENSP00000271651:p.Glu226Gln		Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E226Q	ENST00000271651.3	37	c.676	CCDS969.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254535	0.80135	.	.	ENSG00000143387	ENST00000271651	D	0.87256	-2.23	6.04	6.04	0.98038	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	N	0.05619	-0.005	0.80722	D	1	P	0.49090	0.919	B	0.41466	0.358	T	0.78507	-0.2177	10	0.52906	T	0.07	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	226	P43235	CATK_HUMAN	Q	226	ENSP00000271651:E226Q	ENSP00000271651:E226Q	E	-	1	0	CTSK	149038752	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.976000	0.56867	2.873000	0.98535	0.563000	0.77884	GAG	CTSK	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.502	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSK	HGNC	protein_coding	OTTHUMT00000084732.1	C	NM_000396		150772128	-1	no_errors	ENST00000271651	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150772128	C	G	150772128	3	3	61	1	0	0	0	0	1	0	0	0	4042	922	32	1	325	1	CTSK	1	150772128	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	869841	150772128	98478493	18	9361										
FDPS	2224	genome.wustl.edu	37	chr1	155279951	155279951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agggtgctgactgaggatgaGatggggcacccagagatagg	18	6	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:155279951G>C	ENST00000356657.6	+	3	456	c.294G>C	c.(292-294)gaG>gaC	p.E98D	FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Missense_Mutation_p.E98D|FDPS_ENST00000447866.1_Missense_Mutation_p.E32D	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	98					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E98D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGAGGATGAGATGGGGCACC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											65	65	65					1																	155279951		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.294G>C	1.37:g.155279951G>C	ENSP00000349078:p.Glu98Asp		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.E98D	ENST00000356657.6	37	c.294	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457505	0.26161	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63580	-0.05;-0.05;-0.05	4.2	-1.81	0.07882	Terpenoid synthase (2);	0.700825	0.11681	N	0.539880	T	0.12902	0.0313	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	10	0.12430	T	0.62	-6.6185	5.1769	0.15139	0.0909:0.4615:0.3286:0.1191	.	98	P14324	FPPS_HUMAN	D	32;98;98	ENSP00000391755:E32D;ENSP00000357340:E98D;ENSP00000349078:E98D	ENSP00000349078:E98D	E	+	3	2	FDPS	153546575	0.000000	0.05858	0.039000	0.18376	0.988000	0.76386	-0.550000	0.06034	-0.445000	0.07159	0.591000	0.81541	GAG	FDPS	-	superfamily_Terpenoid_synth		0.502	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	G	NM_002004		155279951	1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	0.014	C	C	155279951	G	C	155279951	3	2	61	1	0	0	0	0	1	0	0	0	5821	933	33	1	300	1	FDPS	1	155279951	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4507823	155279951	93970670	19	9362										
ARHGAP30	257106	genome.wustl.edu	37	chr1	161021240	161021240	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atgatgttcgggggcacactGaggatagaggtgatgtgtag	17	4	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161021240G>A	ENST00000368013.3	-	10	1604	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ARHGAP30_ENST00000368016.3_Silent_p.L428L|ARHGAP30_ENST00000368015.1_Silent_p.L251L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	428					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.L428L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGGCACACTGAGGATAGAGG	0.617																																																	2	Substitution - coding silent(2)	cervix(2)											139	110	120					1																	161021240		2203	4300	6503	SO:0001819	synonymous_variant	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1284C>T	1.37:g.161021240G>A			Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L428	ENST00000368013.3	37	c.1284	CCDS30918.1	1																																																																																			ARHGAP30	-	NULL		0.617	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	G	NM_181720		161021240	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	silent	SNP	0.996	A	A	161021240	G	A	161021240	2	1	61	1	0	0	0	0	0	0	0	1	879	1277	45	1		1	ARHGAP30	1	161021240	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	5741289	161021240	88229381	20	9363										
DEDD	9191	genome.wustl.edu	37	chr1	161092117	161092117	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccattgatgtagtcacgccaGaatgcatcgaggtaggtgag	13	8	1	3	rs540627506		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161092117G>A	ENST00000368006.3	-	6	991	c.777C>T	c.(775-777)ttC>ttT	p.F259F	DEDD_ENST00000490843.2_Silent_p.F259F|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Silent_p.F259F|DEDD_ENST00000392188.1_Silent_p.F289F|DEDD_ENST00000458050.2_Silent_p.F259F|DEDD_ENST00000368005.1_Silent_p.F289F	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	259					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.F259F(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGTCACGCCAGAATGCATCGA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											140	127	131					1																	161092117		2203	4300	6503	SO:0001819	synonymous_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.777C>T	1.37:g.161092117G>A			D3DVF5|O60737	Silent	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.F289	ENST00000368006.3	37	c.867	CCDS1219.1	1																																																																																			DEDD	-	NULL		0.512	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	G	NM_004216		161092117	-1	no_errors	ENST00000368005	ensembl	human	known	70_37	silent	SNP	1.000	A	A	161092117	G	A	161092117	2	1	61	1	0	0	0	0	0	0	0	1	4389	933	33	1		1	DEDD	1	161092117	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	70877	161092117	88158504	21	9364										
DEDD	9191	genome.wustl.edu	37	chr1	161092266	161092266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agagaagacattgccctgcaGagcagtctcatgctggcagt	12	10	1	3	rs373272159		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161092266G>T	ENST00000368006.3	-	6	842	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	DEDD_ENST00000490843.2_Missense_Mutation_p.L210M|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.L210M|DEDD_ENST00000392188.1_Missense_Mutation_p.L240M|DEDD_ENST00000458050.2_Missense_Mutation_p.L210M|DEDD_ENST00000368005.1_Missense_Mutation_p.L240M	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	210					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.L210M(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTGCCCTGCAGAGCAGTCTCA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											97	101	100					1																	161092266		2203	4300	6503	SO:0001583	missense	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.628C>A	1.37:g.161092266G>T	ENSP00000356985:p.Leu210Met		D3DVF5|O60737	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.L240M	ENST00000368006.3	37	c.718	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453353	0.63290	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.70227	0.935;0.968;0.782	T	0.76002	-0.3118	9	0.72032	D	0.01	.	15.9012	0.79377	0.0:0.0:1.0:0.0	.	167;240;210	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	210;240;210;210;210;240;167	.	ENSP00000356984:L240M	L	-	1	2	DEDD	159358890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.856000	0.86956	2.615000	0.88500	0.650000	0.86243	CTG	DEDD	-	NULL		0.527	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	G	NM_004216		161092266	-1	no_errors	ENST00000368005	ensembl	human	known	70_37	missense	SNP	1.000	T	T	161092266	G	T	161092266	3	4	61	1	0	0	0	0	1	0	0	0	4389	933	33	3	332	3	DEDD	1	161092266	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	149	161092266	88158355	22	9365										
CACYBP	27101	genome.wustl.edu	37	chr1	174973857	174973857	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aagattgagacagaaatcaaGaacaagatgcaacagaaatc	8	6	1	6			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:174973857G>A	ENST00000367679.2	+	2	571	c.123G>A	c.(121-123)aaG>aaA	p.K41K	CACYBP_ENST00000367681.2_5'UTR|CACYBP_ENST00000405362.1_5'UTR|CACYBP_ENST00000406752.1_Silent_p.K41K	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	41	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.K41K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CAGAAATCAAGAACAAGATGC	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											94	88	90					1																	174973857		2203	4300	6503	SO:0001819	synonymous_variant	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.123G>A	1.37:g.174973857G>A			B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	pfam_Siah-Interact_N,pfam_CS_domain,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS	p.K41	ENST00000367679.2	37	c.123	CCDS1315.1	1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155382	0.21454	.	.	ENSG00000116161	ENST00000450101	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56763	-0.7925	4	.	.	.	3.8809	8.1971	0.31402	0.1307:0.0:0.7427:0.1266	.	.	.	.	K	15	.	.	R	+	2	0	CACYBP	173240480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.816000	0.48026	1.637000	0.50538	0.655000	0.94253	AGA	CACYBP	-	pfam_Siah-Interact_N		0.408	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3	G	NM_014412		174973857	1	no_errors	ENST00000367679	ensembl	human	known	70_37	silent	SNP	1.000	A	A	174973857	G	A	174973857	2	1	61	1	0	0	0	0	0	0	0	1	2569	933	33	1		1	CACYBP	1	174973857	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	13881591	174973857	74276764	23	9366										
PPP1R12B	4660	genome.wustl.edu	37	chr1	202418211	202418211	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtgtgatcaccaatcgccctCttcctagcactgccaatggg	9	14	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:202418211C>T	ENST00000608999.1	+	13	1915	c.1762C>T	c.(1762-1764)Ctt>Ttt	p.L588F	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.L588F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	588					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.L588F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAATCGCCCTCTTCCTAGCAC	0.512																																																	1	Substitution - Missense(1)	cervix(1)											124	104	111					1																	202418211		2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1762C>T	1.37:g.202418211C>T	ENSP00000476755:p.Leu588Phe		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L588F	ENST00000608999.1	37	c.1762	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	C	1.658	-0.512105	0.04200	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.41400	1.0;1.02	5.51	2.56	0.30785	.	0.868455	0.10084	N	0.718028	T	0.21674	0.0522	N	0.08118	0	0.18873	N	0.999989	B;B	0.32203	0.13;0.36	B;B	0.27608	0.036;0.081	T	0.15150	-1.0447	10	0.56958	D	0.05	.	7.121	0.25444	0.0:0.4873:0.3515:0.1612	.	588;588	O60237;F8W8M3	MYPT2_HUMAN;.	F	588	ENSP00000384496:L588F;ENSP00000337897:L588F	ENSP00000337897:L588F	L	+	1	0	PPP1R12B	200684834	0.130000	0.22417	0.381000	0.26106	0.635000	0.38103	0.371000	0.20450	0.353000	0.24079	-0.140000	0.14226	CTT	PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.512	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	C	NM_032105		202418211	1	no_errors	ENST00000336894	ensembl	human	known	70_37	missense	SNP	0.181	T	T	202418211	C	T	202418211	3	4	61	1	0	0	0	0	1	0	0	0	12382	913	32	1	1902	1	PPP1R12B	1	202418211	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	27444354	202418211	46832410	24	9367										
KDM5B	10765	genome.wustl.edu	37	chr1	202709925	202709925	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	actgccgtagcaaggctattCaatgaatgtcgtggcctaca	10	10	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:202709925C>T	ENST00000367265.3	-	20	4125	c.2961G>A	c.(2959-2961)ttG>ttA	p.L987L	KDM5B_ENST00000367264.2_Silent_p.L1023L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	987					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L987L(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAAGGCTATTCAATGAATGTC	0.418																																																	1	Substitution - coding silent(1)	cervix(1)											67	67	67					1																	202709925		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2961G>A	1.37:g.202709925C>T			O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L987	ENST00000367265.3	37	c.2961	CCDS30974.1	1																																																																																			KDM5B	-	pfam_Lys_sp_deMease_like_dom		0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	C	NM_006618		202709925	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	0.318	T	T	202709925	C	T	202709925	2	4	61	1	0	0	0	0	0	0	0	1	8154	825	29	1		1	KDM5B	1	202709925	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	291714	202709925	46540696	25	9368										
KDM5B	10765	genome.wustl.edu	37	chr1	202710713	202710713	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgttccaaacggatacgcatCtcagcaagctgtggaagttc	10	10	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:202710713C>T	ENST00000367265.3	-	19	3891	c.2727G>A	c.(2725-2727)gaG>gaA	p.E909E	KDM5B_ENST00000367264.2_Silent_p.E945E	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	909					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E909E(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATACGCATCTCAGCAAGCT	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											89	78	81					1																	202710713		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2727G>A	1.37:g.202710713C>T			O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E909	ENST00000367265.3	37	c.2727	CCDS30974.1	1																																																																																			KDM5B	-	pfam_Lys_sp_deMease_like_dom		0.493	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	C	NM_006618		202710713	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	1.000	T	T	202710713	C	T	202710713	2	4	61	1	0	0	0	0	0	0	0	1	8154	912	32	1		1	KDM5B	1	202710713	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	788	202710713	46539908	26	9369										
SLC45A3	85414	genome.wustl.edu	37	chr1	205632701	205632701	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cacgccagtggtcactggctGagcctaggagcgggacacag	15	12	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:205632701G>A	ENST00000367145.3	-	3	513	c.218C>T	c.(217-219)tCa>tTa	p.S73L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	73					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S73L(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTCACTGGCTGAGCCTAGGAG	0.612			T	"ETV1, ETV5, ELK4, ERG"	prostate																																			Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	1	Substitution - Missense(1)	cervix(1)											26	28	27					1																	205632701		2154	4239	6393	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.218C>T	1.37:g.205632701G>A	ENSP00000356113:p.Ser73Leu		A8K2U9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S73L	ENST00000367145.3	37	c.218	CCDS1458.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.305180	0.95601	.	.	ENSG00000158715	ENST00000367145	D	0.95554	-3.74	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.059790	0.64402	D	0.000001	D	0.97145	0.9067	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	D	0.96104	0.9071	10	0.11485	T	0.65	-12.6683	18.1315	0.89603	0.0:0.0:1.0:0.0	.	73	Q96JT2	S45A3_HUMAN	L	73	ENSP00000356113:S73L	ENSP00000356113:S73L	S	-	2	0	SLC45A3	203899324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.732000	0.84908	2.676000	0.91093	0.655000	0.94253	TCA	SLC45A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.612	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	HGNC	protein_coding	OTTHUMT00000090619.1	G	NM_033102		205632701	-1	no_errors	ENST00000367145	ensembl	human	known	70_37	missense	SNP	1.000	A	A	205632701	G	A	205632701	3	1	61	1	0	0	0	0	1	0	0	0	14672	1294	45	1	1455	1	SLC45A3	1	205632701	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2921988	205632701	43617920	27	9370										
YOD1	55432	genome.wustl.edu	37	chr1	207222842	207222842	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tagaagtctggatcgcttgcTacaatttgtgctatgaggcg	12	7	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:207222842T>A	ENST00000315927.4	-	2	616	c.570A>T	c.(568-570)gtA>gtT	p.V190V	YOD1_ENST00000391927.1_Silent_p.V146V|YOD1_ENST00000367084.1_Silent_p.V146V|PFKFB2_ENST00000411990.2_5'UTR	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	190	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.V190V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GATCGCTTGCTACAATTTGTG	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											108	107	107					1																	207222842		2203	4300	6503	SO:0001819	synonymous_variant	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.570A>T	1.37:g.207222842T>A			B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	pfam_OTU,pfscan_OTU	p.V190	ENST00000315927.4	37	c.570	CCDS31002.1	1																																																																																			YOD1	-	pfam_OTU,pfscan_OTU		0.458	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	YOD1	HGNC	protein_coding	OTTHUMT00000087837.1	T	NM_018566		207222842	-1	no_errors	ENST00000315927	ensembl	human	known	70_37	silent	SNP	1.000	A	A	207222842	T	A	207222842	2	1	61	1	0	0	0	0	0	0	0	1	17519	1509	53	5		5	YOD1	1	207222842	Silent	SNP	T	TCGA-DS-A0VM-01A-11D-A10S-08	1590141	207222842	42027779	28	9371										
TRAF5	7188	genome.wustl.edu	37	chr1	211545904	211545904	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gcagcagctttaaaagacctGatggggagatgaacattgca	12	7	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:211545904G>C	ENST00000261464.5	+	11	1588	c.1534G>C	c.(1534-1536)Gat>Cat	p.D512H	TRAF5_ENST00000427925.2_Missense_Mutation_p.D406H|TRAF5_ENST00000367004.3_Missense_Mutation_p.D512H|TRAF5_ENST00000336184.2_Missense_Mutation_p.D512H	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	512	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D512H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TAAAAGACCTGATGGGGAGAT	0.478																																																	1	Substitution - Missense(1)	cervix(1)											79	74	76					1																	211545904		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1534G>C	1.37:g.211545904G>C	ENSP00000261464:p.Asp512His		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.D512H	ENST00000261464.5	37	c.1534	CCDS1497.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241397	0.58995	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.51	4.59	0.56863	TRAF-type (1);TRAF-like (1);MATH (3);	0.306398	0.35349	N	0.003271	T	0.51601	0.1684	L	0.29908	0.895	0.28312	N	0.922623	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.73380	0.98;0.93;0.966	T	0.51132	-0.8744	10	0.62326	D	0.03	-7.0287	14.2832	0.66226	0.0714:0.0:0.9286:0.0	.	406;523;512	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	H	512;406;512;512	ENSP00000336825:D512H;ENSP00000389891:D406H;ENSP00000261464:D512H;ENSP00000355971:D512H	ENSP00000261464:D512H	D	+	1	0	TRAF5	209612527	0.999000	0.42202	0.446000	0.26920	0.997000	0.91878	4.536000	0.60636	1.454000	0.47793	0.650000	0.86243	GAT	TRAF5	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.478	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	G	NM_004619		211545904	1	no_errors	ENST00000261464	ensembl	human	known	70_37	missense	SNP	0.348	C	C	211545904	G	C	211545904	3	2	61	1	0	0	0	0	1	0	0	0	16475	1290	45	1	1572	1	TRAF5	1	211545904	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4323062	211545904	37704717	29	9372										
GPATCH2	55105	genome.wustl.edu	37	chr1	217787495	217787495	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcagtaccttgtcttccctCatcattggtaaacaatccag	5	12	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:217787495C>T	ENST00000366935.3	-	3	933	c.823G>A	c.(823-825)Gag>Aag	p.E275K	GPATCH2_ENST00000366934.3_Missense_Mutation_p.E275K	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	275					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.E275K(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TGTCTTCCCTCATCATTGGTA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											102	102	102					1																	217787495		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.823G>A	1.37:g.217787495C>T	ENSP00000355902:p.Glu275Lys		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E275K	ENST00000366935.3	37	c.823	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.231932	0.95207	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.47177	0.85;0.85	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.75093	-0.3439	10	0.87932	D	0	-15.9836	20.1606	0.98132	0.0:1.0:0.0:0.0	.	275;275	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	K	275	ENSP00000355902:E275K;ENSP00000355901:E275K	ENSP00000355901:E275K	E	-	1	0	GPATCH2	215854118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.333000	0.79214	2.772000	0.95346	0.650000	0.86243	GAG	GPATCH2	-	NULL		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	C	NM_018040		217787495	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	missense	SNP	1.000	T	T	217787495	C	T	217787495	3	4	61	1	0	0	0	0	1	0	0	0	6610	835	29	1	795	1	GPATCH2	1	217787495	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6241591	217787495	31463126	30	9373										
EGLN1	54583	genome.wustl.edu	37	chr1	231556755	231556755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cacacttactttcgtccggcCattgattttgtagctgccca	7	13	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:231556755C>T	ENST00000366641.3	-	1	4035	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1									p.G294S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TTCGTCCGGCCATTGATTTTG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											134	128	130					1																	231556755		2203	4300	6503	SO:0001583	missense	54583			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.880G>A	1.37:g.231556755C>T	ENSP00000355601:p.Gly294Ser			Missense_Mutation	SNP	pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND	p.G294S	ENST00000366641.3	37	c.880	CCDS1595.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.244910	0.97408	.	.	ENSG00000135766	ENST00000366641	D	0.86432	-2.12	4.86	4.86	0.63082	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	L	0.43923	1.385	0.80722	D	1	B	0.33583	0.418	B	0.42653	0.394	D	0.84750	0.0756	10	0.32370	T	0.25	-17.5734	18.361	0.90374	0.0:1.0:0.0:0.0	.	294	Q9GZT9	EGLN1_HUMAN	S	294	ENSP00000355601:G294S	ENSP00000355601:G294S	G	-	1	0	EGLN1	229623378	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.619000	0.83057	2.362000	0.80069	0.563000	0.77884	GGC	EGLN1	-	smart_Pro_4_hyd_alph		0.602	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN1	HGNC	protein_coding	OTTHUMT00000092879.1	C	NM_022051		231556755	-1	no_errors	ENST00000366641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	231556755	C	T	231556755	3	4	61	1	0	0	0	0	1	0	0	0	4978	594	21	4	420	4	EGLN1	1	231556755	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	13769260	231556755	17693866	31	9374										
RBM34	23029	genome.wustl.edu	37	chr1	235295079	235295079	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccacttttcttctgtcctttCttcttcgttttaaggagaac	5	11	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:235295079C>G	ENST00000408888.3	-	11	1472	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000366606.3_Missense_Mutation_p.K409N|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	414						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K414N(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TCTGTCCTTTCTTCTTCGTTT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											122	115	117					1																	235295079		1832	4086	5918	SO:0001583	missense	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1242G>C	1.37:g.235295079C>G	ENSP00000386226:p.Lys414Asn		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K414N	ENST00000408888.3	37	c.1242	CCDS41477.2	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457515	0.43634	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.16897	2.31;2.32;2.49	5.59	5.59	0.84812	.	0.044496	0.85682	D	0.000000	T	0.31702	0.0805	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.02047	-1.1223	10	0.31617	T	0.26	-18.2836	8.5621	0.33516	0.0:0.6925:0.2267:0.0808	.	414	P42696	RBM34_HUMAN	N	414;409;392	ENSP00000386226:K414N;ENSP00000355565:K409N;ENSP00000400000:K392N	ENSP00000355565:K409N	K	-	3	2	RBM34	233361702	0.998000	0.40836	1.000000	0.80357	0.854000	0.48673	0.493000	0.22451	2.630000	0.89119	0.563000	0.77884	AAG	RBM34	-	NULL		0.368	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	C	NM_015014		235295079	-1	no_errors	ENST00000408888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	235295079	C	G	235295079	3	3	61	1	0	0	0	0	1	0	0	0	13161	912	32	1	54	1	RBM34	1	235295079	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3738324	235295079	13955542	32	9375										
ZNF238	10472	genome.wustl.edu	37	chr1	244217494	244217494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggcagacagcaccaaaaagGaagaagatgcttcaagttgt	11	7	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:244217494G>A	ENST00000358704.4	+	2	567	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	131					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E131K(1)									CACCAAAAAGGAAGAAGATGC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											74	66	69					1																	244217494		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.418G>A	1.37:g.244217494G>A	ENSP00000351539:p.Glu140Lys		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E140K	ENST00000358704.4	37	c.418	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859249	0.91433	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12879	2.64	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.27053	0.805	0.80722	D	1	D;D;D	0.64830	0.993;0.99;0.994	D;P;D	0.68192	0.956;0.757;0.915	T	0.02098	-1.1214	10	0.52906	T	0.07	.	18.9107	0.92483	0.0:0.0:1.0:0.0	.	140;131;140	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	K	140	ENSP00000351539:E140K	ENSP00000351539:E140K	E	+	1	0	ZNF238	242284117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.604000	0.82830	2.475000	0.83589	0.650000	0.86243	GAA	ZNF238	-	NULL		0.483	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217494	1	no_errors	ENST00000358704	ensembl	human	known	70_37	missense	SNP	1.000	A	A	244217494	G	A	244217494	3	1	61	1	0	0	0	0	1	0	0	0	17820	1175	41	1	424	1	ZNF238	1	244217494	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8922415	244217494	5033127	33	9376										
ZNF238	10472	genome.wustl.edu	37	chr1	244217625	244217625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aacatcctgcccagcaaaagGgacttggcggccgagcctgg	13	13	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:244217625G>A	ENST00000358704.4	+	2	698	c.549G>A	c.(547-549)agG>agA	p.R183R		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	174				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R174R(1)									CCAGCAAAAGGGACTTGGCGG	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											53	57	56					1																	244217625		2203	4300	6503	SO:0001819	synonymous_variant	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.549G>A	1.37:g.244217625G>A			A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R183	ENST00000358704.4	37	c.549	CCDS1622.1	1																																																																																			ZNF238	-	NULL		0.577	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217625	1	no_errors	ENST00000358704	ensembl	human	known	70_37	silent	SNP	1.000	A	A	244217625	G	A	244217625	2	1	61	1	0	0	0	0	0	0	0	1	17820	1223	43	4		4	ZNF238	1	244217625	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	131	244217625	5032996	34	9377										
KIF26B	55083	genome.wustl.edu	37	chr1	245848929	245848929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tctctgacaaggagctcaccGacaacgagggccccccagac	10	16	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:245848929G>A	ENST00000407071.2	+	12	3084	c.2644G>A	c.(2644-2646)Gac>Aac	p.D882N	KIF26B_ENST00000366518.4_Missense_Mutation_p.D501N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	882					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D882N(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGAGCTCACCGACAACGAGGG	0.672																																																	2	Substitution - Missense(2)	cervix(2)											37	41	40					1																	245848929		2042	4163	6205	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2644G>A	1.37:g.245848929G>A	ENSP00000385545:p.Asp882Asn		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D882N	ENST00000407071.2	37	c.2644	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522966	0.85600	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.84298	-1.83;-1.64	5.47	5.47	0.80525	.	.	.	.	.	D	0.91009	0.7172	M	0.74389	2.26	0.80722	D	1	D;D	0.61080	0.98;0.989	P;P	0.57468	0.636;0.821	D	0.91740	0.5403	9	0.72032	D	0.01	.	19.3296	0.94280	0.0:0.0:1.0:0.0	.	501;882	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	882;501;498	ENSP00000385545:D882N;ENSP00000355475:D501N	ENSP00000355475:D501N	D	+	1	0	KIF26B	243915552	1.000000	0.71417	0.965000	0.40720	0.952000	0.60782	9.843000	0.99491	2.591000	0.87537	0.561000	0.74099	GAC	KIF26B	-	NULL		0.672	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245848929	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	A	A	245848929	G	A	245848929	3	1	61	1	0	0	0	0	1	0	0	0	8315	1058	37	1	2690	1	KIF26B	1	245848929	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1631304	245848929	3401692	35	9378										
SMC6	79677	genome.wustl.edu	37	chr2	17902454	17902454	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaggactctaaattagtcttCattgtacttaaaccagcaat	5	8	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:17902454C>A	ENST00000448223.2	-	10	1070	c.801G>T	c.(799-801)atG>atT	p.M267I	SMC6_ENST00000402989.1_Missense_Mutation_p.M267I|SMC6_ENST00000351948.4_Missense_Mutation_p.M267I|SMC6_ENST00000381272.4_Missense_Mutation_p.M293I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	267					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.M267I(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATTAGTCTTCATTGTACTTA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											137	137	137					2																	17902454		2202	4300	6502	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.801G>T	2.37:g.17902454C>A	ENSP00000404092:p.Met267Ile		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.M293I	ENST00000448223.2	37	c.879	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316680	0.81469	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.88	5.88	0.94601	RecF/RecN/SMC (1);	0.151077	0.64402	D	0.000001	T	0.12347	0.0300	L	0.36672	1.1	0.51482	D	0.999929	P;B;P	0.43352	0.589;0.232;0.804	B;B;P	0.52031	0.372;0.113;0.688	T	0.19353	-1.0308	10	0.10636	T	0.68	.	19.8265	0.96619	0.0:1.0:0.0:0.0	.	293;293;267	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	I	267;267;293;267;293	ENSP00000404092:M267I;ENSP00000323439:M267I;ENSP00000370672:M293I;ENSP00000384539:M267I;ENSP00000408644:M293I	ENSP00000323439:M267I	M	-	3	0	SMC6	17765935	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.505000	0.60421	2.789000	0.95967	0.591000	0.81541	ATG	SMC6	-	NULL		0.363	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	C	NM_024624		17902454	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17902454	C	A	17902454	3	1	61	1	0	0	0	0	1	0	0	0	14817	826	29	3	2550	3	SMC6	2	17902454	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		17902454	225296919	36	9379										
GEN1	348654	genome.wustl.edu	37	chr2	17941369	17941369	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agcgtcatgaagccccacctCaggtatagtaaaagctctta	8	11	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:17941369C>T	ENST00000381254.2	+	2	373	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Silent_p.L53L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	53	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L53L(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCCCCACCTCAGGTATAGTA	0.383								Homologous recombination																																									1	Substitution - coding silent(1)	cervix(1)											71	70	71					2																	17941369		2203	4300	6503	SO:0001819	synonymous_variant	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.159C>T	2.37:g.17941369C>T			Q17RS9|Q6ZN37	Silent	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.L53	ENST00000381254.2	37	c.159	CCDS1691.1	2																																																																																			GEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	C	NM_182625		17941369	1	no_errors	ENST00000317402	ensembl	human	known	70_37	silent	SNP	0.997	T	T	17941369	C	T	17941369	2	4	61	1	0	0	0	0	0	0	0	1	6354	813	29	1		1	GEN1	2	17941369	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	38915	17941369	225258004	37	9380										
GDF7	151449	genome.wustl.edu	37	chr2	20871110	20871110	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctcagccccatcagcatcctCtacatcgacgccgccaacaa	5	19	3	0	rs535810550		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:20871110C>G	ENST00000272224.3	+	2	1854	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	426					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)		p.L426L(1)		breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCATCCTCTACATCGACG	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		14407	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)											44	40	41					2																	20871110		2203	4300	6503	SO:0001819	synonymous_variant	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1278C>G	2.37:g.20871110C>G				Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.L426	ENST00000272224.3	37	c.1278	CCDS1701.1	2																																																																																			GDF7	-	pfam_TGF-b_C,smart_TGF-b_C		0.652	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	C	NM_182828		20871110	1	no_errors	ENST00000272224	ensembl	human	known	70_37	silent	SNP	1.000	G	G	20871110	C	G	20871110	2	3	61	1	0	0	0	0	0	0	0	1	6337	900	32	1		1	GDF7	2	20871110	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2929741	20871110	222328263	38	9381										
CAD	790	genome.wustl.edu	37	chr2	27459221	27459221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caccacagcggagcatcctgGagcagctagctgagaaaaac	11	12	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:27459221G>C	ENST00000403525.1	+	25	4099	c.3955G>C	c.(3955-3957)Gag>Cag	p.E1319Q	CAD_ENST00000264705.4_Missense_Mutation_p.E1382Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E1382Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCATCCTGGAGCAGCTAGC	0.582																																																	1	Substitution - Missense(1)	cervix(1)											73	68	70					2																	27459221		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3955G>C	2.37:g.27459221G>C	ENSP00000384510:p.Glu1319Gln		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.E1382Q	ENST00000403525.1	37	c.4144		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.562375|2.562375	0.45694|0.45694	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	D;D|.	0.81821|.	-1.54;-1.54|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Methylglyoxal synthase-like domain (4);|.	0.188988|.	0.56097|.	D|.	0.000035|.	T|T	0.49762|0.49762	0.1576|0.1576	N|N	0.16098|0.16098	0.37|0.37	0.43740|0.43740	D|D	0.996231|0.996231	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.13407|.	0.009;0.004|.	T|T	0.45220|0.45220	-0.9276|-0.9276	10|5	0.02654|.	T|.	1|.	-4.6482|-4.6482	17.2725|17.2725	0.87106|0.87106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1319;1382|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	Q|C	1382;1319|26	ENSP00000264705:E1382Q;ENSP00000384510:E1319Q|.	ENSP00000264705:E1382Q|.	E|W	+|+	1|3	0|0	CAD|CAD	27312725|27312725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.625000|5.625000	0.67770|0.67770	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GAG|TGG	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27459221	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27459221	G	C	27459221	3	2	61	1	0	0	0	0	1	0	0	0	2570	1175	41	1	4246	1	CAD	2	27459221	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6588111	27459221	215740152	39	9382										
SRBD1	55133	genome.wustl.edu	37	chr2	45704134	45704134	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgatccacatagctttacctGatacattccaactccaatgt	4	12	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:45704134G>A	ENST00000263736.4	-	16	2109	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	SRBD1_ENST00000535761.1_Nonsense_Mutation_p.Q202*	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	683					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.Q683*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGCTTTACCTGATACATTCCA	0.383																																																	1	Substitution - Nonsense(1)	cervix(1)											124	104	111					2																	45704134		2203	4300	6503	SO:0001587	stop_gained	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2047C>T	2.37:g.45704134G>A	ENSP00000263736:p.Gln683*		Q53T56|Q96TA4|Q9NW11	Nonsense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.Q683*	ENST00000263736.4	37	c.2047	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.486589	0.98316	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9731	0.92722	0.0:0.0:1.0:0.0	.	.	.	.	X	683;202	.	ENSP00000263736:Q683X	Q	-	1	0	SRBD1	45557638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.336000	0.90033	2.720000	0.93068	0.591000	0.81541	CAG	SRBD1	-	NULL		0.383	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	G	NM_018079		45704134	-1	no_errors	ENST00000263736	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	45704134	G	A	45704134	4	1	61	1	0	0	0	0	0	1	0	0	15163	1299	45	1	964	1	SRBD1	2	45704134	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	18244913	45704134	197495239	40	9383										
NRXN1	9378	genome.wustl.edu	37	chr2	50765725	50765725	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tccaggtccagaatctcactCtcaccaggagcagtgtaggg	11	12	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:50765725C>T	ENST00000406316.2	-	10	3285	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	NRXN1_ENST00000402717.3_Silent_p.E595E|NRXN1_ENST00000404971.1_Silent_p.E643E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.E603E|NRXN1_ENST00000405472.3_Silent_p.E595E|NRXN1_ENST00000406859.3_Silent_p.E603E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	603	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E603E(1)|p.E644E(1)|p.E643E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAATCTCACTCTCACCAGGAG	0.502																																																	3	Substitution - coding silent(3)	cervix(3)											70	74	73					2																	50765725		2138	4266	6404	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1809G>A	2.37:g.50765725C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E595	ENST00000406316.2	37	c.1785	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50765725	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50765725	C	T	50765725	2	4	61	1	0	0	0	0	0	0	0	1	10689	912	32	1		1	NRXN1	2	50765725	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5061591	50765725	192433648	41	9384										
RPS27A	6233	genome.wustl.edu	37	chr2	55459972	55459972	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gccaccaaaatgcagattttCgtgaaaacccttacggggaa	9	10	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:55459972C>T	ENST00000272317.6	+	2	336	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CLHC1_ENST00000494539.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000407122.1_5'Flank|CLHC1_ENST00000406076.1_5'Flank|RPS27A_ENST00000402285.3_Silent_p.F4F|RPS27A_ENST00000404735.1_Silent_p.F4F|CLHC1_ENST00000406437.2_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	4	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.F4F(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						TGCAGATTTTCGTGAAAACCC	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											25	25	25					2																	55459972		2203	4300	6503	SO:0001819	synonymous_variant	6233			AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"S ribosomal proteins"	10417	protein-coding gene	gene with protein product	"ubiquitin carboxyl extension protein 80"	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.12C>T	2.37:g.55459972C>T			P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_Ribosomal_S27a,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.F4	ENST00000272317.6	37	c.12	CCDS33202.1	2																																																																																			RPS27A	-	pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.537	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS27A	HGNC	protein_coding	OTTHUMT00000324423.15	C			55459972	1	no_errors	ENST00000272317	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55459972	C	T	55459972	2	4	61	1	0	0	0	0	0	0	0	1	13669	883	31	1		1	RPS27A	2	55459972	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4694247	55459972	187739401	42	9385										
USP34	9736	genome.wustl.edu	37	chr2	61493135	61493135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttacactgcatgtgttgtgcCataacccagttgtgtattag	9	8	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:61493135C>T	ENST00000398571.2	-	42	5677	c.5601G>A	c.(5599-5601)atG>atA	p.M1867I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1867					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.M1867I(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTGTTGTGCCATAACCCAGT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											150	136	140					2																	61493135		1856	4094	5950	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5601G>A	2.37:g.61493135C>T	ENSP00000381577:p.Met1867Ile		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.M1867I	ENST00000398571.2	37	c.5601	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191381	0.58017	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03717	3.94;3.83	5.48	5.48	0.80851	Armadillo-type fold (1);	0.043305	0.85682	D	0.000000	T	0.09905	0.0243	L	0.53249	1.67	0.58432	D	0.999995	P	0.35872	0.525	P	0.45428	0.48	T	0.02574	-1.1139	10	0.54805	T	0.06	.	17.5436	0.87855	0.0:1.0:0.0:0.0	.	1867	Q70CQ2	UBP34_HUMAN	I	1715;1715;1867;145	ENSP00000381577:M1867I;ENSP00000410559:M145I	ENSP00000263989:M1715I	M	-	3	0	USP34	61346639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.563000	0.77884	ATG	USP34	-	superfamily_ARM-type_fold		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61493135	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61493135	C	T	61493135	3	4	61	1	0	0	0	0	1	0	0	0	17096	594	21	4	5195	4	USP34	2	61493135	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6033163	61493135	181706238	43	9386										
C2orf78	388960	genome.wustl.edu	37	chr2	74041326	74041326	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgtattactctgtgtcttctCaacccatcacagaaaccagt	5	12	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:74041326C>G	ENST00000409561.1	+	2	941	c.820C>G	c.(820-822)Caa>Gaa	p.Q274E		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	274								p.Q274E(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGTGTCTTCTCAACCCATCAC	0.463																																																	2	Substitution - Missense(2)	cervix(2)											100	104	103					2																	74041326		2114	4239	6353	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.820C>G	2.37:g.74041326C>G	ENSP00000387124:p.Gln274Glu			Missense_Mutation	SNP	NULL	p.Q274E	ENST00000409561.1	37	c.820	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417065	0.42918	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	5.48	0.80851	.	0.297368	0.17746	U	0.163389	T	0.63260	0.2496	M	0.79475	2.455	0.31963	N	0.608197	P	0.48589	0.912	P	0.47744	0.556	T	0.73642	-0.3918	9	0.72032	D	0.01	-6.4416	15.2226	0.73324	0.0:1.0:0.0:0.0	.	274	A6NCI8	CB078_HUMAN	E	274	.	ENSP00000340692:Q274E	Q	+	1	0	C2orf78	73894834	0.843000	0.29541	0.955000	0.39395	0.058000	0.15608	3.363000	0.52321	2.745000	0.94114	0.655000	0.94253	CAA	C2orf78	-	NULL		0.463	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	C	NM_001080474		74041326	1	no_errors	ENST00000409561	ensembl	human	novel	70_37	missense	SNP	0.985	G	G	74041326	C	G	74041326	3	3	61	1	0	0	0	0	1	0	0	0	2200	827	29	1	826	1	C2orf78	2	74041326	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	12548191	74041326	169158047	44	9387										
REG1B	5968	genome.wustl.edu	37	chr2	79313951	79313951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cactcacatctgcatcaaccCaggtctcagggtcttcatta	6	14	6	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:79313951C>A	ENST00000305089.3	-	3	250	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	57	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.W57L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGCATCAACCCAGGTCTCAGG	0.527																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											149	142	144					2																	79313951		2203	4300	6503	SO:0001583	missense	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.170G>T	2.37:g.79313951C>A	ENSP00000303206:p.Trp57Leu			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.W57L	ENST00000305089.3	37	c.170	CCDS1963.1	2	.	.	.	.	.	.	.	.	.	.	c	21.5	4.155459	0.78114	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.13089	2.62;2.62	3.74	3.74	0.42951	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.36740	N	0.002434	T	0.52789	0.1756	H	0.98918	4.37	0.37812	D	0.92808	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72443	-0.4292	10	0.72032	D	0.01	.	11.2197	0.48846	0.0:1.0:0.0:0.0	.	57;57	Q6ICS1;P48304	.;REG1B_HUMAN	L	8;57	ENSP00000387410:W8L;ENSP00000303206:W57L	ENSP00000303206:W57L	W	-	2	0	REG1B	79167459	0.351000	0.24887	0.440000	0.26846	0.653000	0.38743	0.528000	0.23002	2.087000	0.62958	0.561000	0.74099	TGG	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.527	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	C	NM_006507		79313951	-1	no_errors	ENST00000305089	ensembl	human	known	70_37	missense	SNP	0.871	A	A	79313951	C	A	79313951	3	1	61	1	0	0	0	0	1	0	0	0	13241	595	21	4	346	4	REG1B	2	79313951	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5272625	79313951	163885422	45	9388										
ST3GAL5	8869	genome.wustl.edu	37	chr2	86075024	86075024	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gttcagggtgtggcccagttCtaatccgtgcagtattcctc	11	11	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:86075024C>T	ENST00000377332.3	-	4	730	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.E180K|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.E185K	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	208					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.E208K(1)|p.E185K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TGGCCCAGTTCTAATCCGTGC	0.413																																																	2	Substitution - Missense(2)	cervix(2)											125	118	120					2																	86075024		2203	4300	6503	SO:0001583	missense	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.622G>A	2.37:g.86075024C>T	ENSP00000366549:p.Glu208Lys		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E208K	ENST00000377332.3	37	c.622	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578555	0.28180	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.27890	1.64;1.64;1.64	5.12	5.12	0.69794	.	0.321977	0.36374	N	0.002633	T	0.27900	0.0687	N	0.25485	0.75	0.80722	D	1	P;P;P	0.42010	0.51;0.768;0.51	B;B;B	0.43838	0.209;0.433;0.306	T	0.02220	-1.1193	10	0.22706	T	0.39	-3.7831	17.5419	0.87850	0.0:1.0:0.0:0.0	.	180;208;185	Q9UNP4-2;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	K	185;180;208	ENSP00000377397:E185K;ENSP00000377394:E180K;ENSP00000366549:E208K	ENSP00000366549:E208K	E	-	1	0	ST3GAL5	85928535	0.168000	0.22989	0.169000	0.22859	0.246000	0.25737	4.311000	0.59147	2.388000	0.81334	0.555000	0.69702	GAA	ST3GAL5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.413	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	HGNC	protein_coding	OTTHUMT00000252486.1	C	NM_003896		86075024	-1	no_errors	ENST00000377332	ensembl	human	known	70_37	missense	SNP	0.431	T	T	86075024	C	T	86075024	3	4	61	1	0	0	0	0	1	0	0	0	15248	922	32	1	650	1	ST3GAL5	2	86075024	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6761073	86075024	157124349	46	9389										
IL1RL2	8808	genome.wustl.edu	37	chr2	102851514	102851514	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gacgggatgaaggttattctCattgagctggagaaaatcga	13	5	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:102851514C>G	ENST00000264257.2	+	11	1581	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.L485L|IL1RL2_ENST00000441515.2_Silent_p.L367L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	485	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.L485L(1)|p.L367L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTTATTCTCATTGAGCTGG	0.517																																																	2	Substitution - coding silent(2)	cervix(2)											161	138	146					2																	102851514		2203	4300	6503	SO:0001819	synonymous_variant	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1455C>G	2.37:g.102851514C>G			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.L485	ENST00000264257.2	37	c.1455	CCDS2056.1	2																																																																																			IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.517	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	C	NM_003854		102851514	1	no_errors	ENST00000264257	ensembl	human	known	70_37	silent	SNP	0.929	G	G	102851514	C	G	102851514	2	3	61	1	0	0	0	0	0	0	0	1	7684	813	29	1		1	IL1RL2	2	102851514	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	16776490	102851514	140347859	47	9390										
SLC9A4	389015	genome.wustl.edu	37	chr2	103095452	103095452	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcctgtatctcctgccaccCatcgttctggagggcggcta	10	14	2	0	rs372447447		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:103095452C>A	ENST00000295269.4	+	2	868	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	137					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.P137P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTGCCACCCATCGTTCTGG	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											70	65	66					2																	103095452		2203	4300	6503	SO:0001819	synonymous_variant	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.411C>A	2.37:g.103095452C>A			Q69YK0	Silent	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.P137	ENST00000295269.4	37	c.411	CCDS33264.1	2																																																																																			SLC9A4	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	C	NM_001011552.3		103095452	1	no_errors	ENST00000295269	ensembl	human	known	70_37	silent	SNP	1.000	A	A	103095452	C	A	103095452	2	1	61	1	0	0	0	0	0	0	0	1	14746	581	21	4		4	SLC9A4	2	103095452	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	243938	103095452	140103921	48	9391										
RGPD4	285190	genome.wustl.edu	37	chr2	108489230	108489230	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaaactagttcagtagcccaGagtggatctgaaagcaaagt	11	7	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:108489230G>A	ENST00000408999.3	+	20	4847	c.4770G>A	c.(4768-4770)caG>caA	p.Q1590Q	RGPD4_ENST00000354986.4_Silent_p.Q1590Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1590					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTAGCCCAGAGTGGATCTG	0.378																																																	0													50	41	44					2																	108489230		691	1591	2282	SO:0001819	synonymous_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4770G>A	2.37:g.108489230G>A			B9A029	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.Q1590	ENST00000408999.3	37	c.4770	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	6.244	0.413061	0.11812	.	.	ENSG00000196862	ENST00000439322	.	.	.	1.77	1.77	0.24775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0707	0.25177	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGPD4	107855662	0.983000	0.35010	0.961000	0.40146	0.415000	0.31203	0.514000	0.22786	1.303000	0.44873	0.162000	0.16502	.	RGPD4	-	NULL		0.378	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108489230	1	no_errors	ENST00000354986	ensembl	human	known	70_37	silent	SNP	0.985	A	A	108489230	G	A	108489230	2	1	61	1	0	0	0	0	0	0	0	1	13318	933	33	1		1	RGPD4	2	108489230	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	5393778	108489230	134710143	49	9392										
CLASP1	23332	genome.wustl.edu	37	chr2	122159197	122159197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aagccagtcttgtaaatcatCcttatgaattattataaaat	4	6	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:122159197C>T	ENST00000263710.4	-	28	3177	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	CLASP1_ENST00000455322.2_Missense_Mutation_p.D925N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D908N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D676N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D902N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D909N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D686N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	930					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.D930N(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)					TGTAAATCATCCTTATGAATT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											106	104	105					2																	122159197		1814	4090	5904	SO:0001583	missense	23332			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.2788G>A	2.37:g.122159197C>T	ENSP00000263710:p.Asp930Asn		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D930N	ENST00000263710.4	37	c.2788		2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195489	0.58126	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.086901	0.85682	D	0.000000	T	0.57651	0.2068	N	0.11927	0.2	0.49687	D	0.999813	P;B;P	0.46512	0.684;0.158;0.879	B;B;P	0.52031	0.346;0.047;0.688	T	0.53472	-0.8434	10	0.19590	T	0.45	-4.5626	20.0006	0.97406	0.0:1.0:0.0:0.0	.	902;909;930	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	N	930;925;909;908;686;902;676	ENSP00000263710:D930N;ENSP00000389372:D925N;ENSP00000380717:D909N;ENSP00000441625:D908N;ENSP00000441770:D686N;ENSP00000386442:D902N;ENSP00000438620:D676N	ENSP00000263710:D930N	D	-	1	0	CLASP1	121875667	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.448000	0.80631	2.734000	0.93682	0.591000	0.81541	GAT	CLASP1	-	superfamily_ARM-type_fold		0.338	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122159197	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122159197	C	T	122159197	3	4	61	1	0	0	0	0	1	0	0	0	3459	855	30	1	1880	1	CLASP1	2	122159197	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	13669967	122159197	121040176	50	9393										
MYO7B	4648	genome.wustl.edu	37	chr2	128340010	128340010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atatttggctttgaaaatttCgagaacaataggtatgaaga	9	3	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:128340010C>T	ENST00000409816.2	+	11	1364	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	MYO7B_ENST00000389524.4_Silent_p.F444F|MYO7B_ENST00000428314.1_Silent_p.F444F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	444	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F444F(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTGAAAATTTCGAGAACAATA	0.522																																																	2	Substitution - coding silent(2)	cervix(2)											35	37	36					2																	128340010		1945	4146	6091	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1332C>T	2.37:g.128340010C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.F444	ENST00000409816.2	37	c.1332	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.522	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128340010	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.691	T	T	128340010	C	T	128340010	2	4	61	1	0	0	0	0	0	0	0	1	10106	883	31	1		1	MYO7B	2	128340010	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6180813	128340010	114859363	51	9394										
ACVR2A	92	genome.wustl.edu	37	chr2	148654036	148654036	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tctggttccattgaaatagtGaaacaaggttgttggctgga	12	5	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:148654036G>A	ENST00000241416.7	+	2	858	c.222G>A	c.(220-222)gtG>gtA	p.V74V	ACVR2A_ENST00000404590.1_Silent_p.V74V|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_5'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	74					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.V74V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGAAATAGTGAAACAAGGTT	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											155	150	152					2																	148654036		2203	4300	6503	SO:0001819	synonymous_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.222G>A	2.37:g.148654036G>A			B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.V74	ENST00000241416.7	37	c.222	CCDS33301.1	2																																																																																			ACVR2A	-	pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148654036	1	no_errors	ENST00000241416	ensembl	human	known	70_37	silent	SNP	1.000	A	A	148654036	G	A	148654036	2	1	61	1	0	0	0	0	0	0	0	1	223	1277	45	1		1	ACVR2A	2	148654036	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	20314026	148654036	94545337	52	9395										
XIRP2	129446	genome.wustl.edu	37	chr2	168105466	168105466	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttgcgcctcttataaaatctCattcatttccagagagttca	5	10	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:168105466C>T	ENST00000409195.1	+	9	7653	c.7564C>T	c.(7564-7566)Cat>Tat	p.H2522Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2522Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2300Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2347				H -> P (in Ref. 8; CAD91146). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.H2522Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAAAATCTCATTCATTTCC	0.343																																																	1	Substitution - Missense(1)	cervix(1)											95	91	92					2																	168105466		1816	4067	5883	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7564C>T	2.37:g.168105466C>T	ENSP00000386840:p.His2522Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.H2522Y	ENST00000409195.1	37	c.7564	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318402	0.40996	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02631	4.22;4.22;4.22	5.97	5.09	0.68999	.	0.111234	0.64402	D	0.000012	T	0.11580	0.0282	M	0.67953	2.075	0.33248	D	0.558124	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.64776	0.852;0.929;0.929	T	0.23154	-1.0196	10	0.22706	T	0.39	-11.6991	15.5358	0.76001	0.1394:0.8606:0.0:0.0	.	2347;2347;2300	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2522;2522;2300	ENSP00000386840:H2522Y;ENSP00000295237:H2522Y;ENSP00000387255:H2300Y	ENSP00000295237:H2522Y	H	+	1	0	XIRP2	167813712	0.975000	0.34042	0.988000	0.46212	0.971000	0.66376	2.557000	0.45871	1.512000	0.48834	0.655000	0.94253	CAT	XIRP2	-	NULL		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	C	NM_152381		168105466	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.998	T	T	168105466	C	T	168105466	3	4	61	1	0	0	0	0	1	0	0	0	17461	826	29	1	7594	1	XIRP2	2	168105466	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	19451430	168105466	75093907	53	9396										
B3GALT1	8708	genome.wustl.edu	37	chr2	168725859	168725859	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcagagagacgtggggggatGagaacaactttaaggggatc	16	5	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:168725859G>A	ENST00000392690.3	+	1	402	c.310G>A	c.(310-312)Gag>Aag	p.E104K	B3GALT1_ENST00000305861.1_Missense_Mutation_p.E104K|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	104					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.E104K(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTGGGGGGATGAGAACAACTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											64	63	63					2																	168725859		2203	4300	6503	SO:0001583	missense	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"Beta 3-glycosyltransferases"	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.310G>A	2.37:g.168725859G>A	ENSP00000376456:p.Glu104Lys		D3DPB8|Q53SS2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.E104K	ENST00000392690.3	37	c.310	CCDS2227.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845338	0.91197	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.41758	0.99;0.99	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59663	-0.7412	10	0.46703	T	0.11	-23.4544	20.8598	0.99761	0.0:0.0:1.0:0.0	.	104	Q9Y5Z6	B3GT1_HUMAN	K	104	ENSP00000303740:E104K;ENSP00000376456:E104K	ENSP00000303740:E104K	E	+	1	0	B3GALT1	168434105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.937000	0.99478	0.650000	0.86243	GAG	B3GALT1	-	pfam_Glyco_trans_31		0.458	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT1	HGNC	protein_coding	OTTHUMT00000255211.2	G	NM_020981		168725859	1	no_errors	ENST00000305861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	168725859	G	A	168725859	3	1	61	1	0	0	0	0	1	0	0	0	1248	1291	45	1	312	1	B3GALT1	2	168725859	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	620393	168725859	74473514	54	9397										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttctcgacttactccaagatCtatatcttgcctccaaagta	4	12	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66	59	61					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29H	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098960	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178098960	C	G	178098960	3	3	61	1	0	0	0	0	1	0	0	0	10392	913	32	1	1748	1	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	9373101	178098960	65100413	55	9398										
TTN	7273	genome.wustl.edu	37	chr2	179427450	179427450	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cttgtagtttctcgtttttcGacaatgtagtttgtaatctt	7	6	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:179427450G>A	ENST00000591111.1	-	276	78710	c.78486C>T	c.(78484-78486)gtC>gtT	p.V26162V	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V18863V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.V18930V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.V25235V|TTN_ENST00000589042.1_Silent_p.V27803V|TTN_ENST00000460472.2_Silent_p.V18738V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26162	Fibronectin type-III 90. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V18930V(1)|p.V18738V(1)|p.V25233V(1)|p.V25235V(1)|p.V18863V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCGTTTTTCGACAATGTAGT	0.363																																																	5	Substitution - coding silent(5)	cervix(5)											116	107	110					2																	179427450		1866	4102	5968	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78486C>T	2.37:g.179427450G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V25235	ENST00000591111.1	37	c.75705		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179427450	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.979	A	A	179427450	G	A	179427450	2	1	61	1	0	0	0	0	0	0	0	1	16766	1045	37	1		1	TTN	2	179427450	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1328490	179427450	63771923	56	9399										
TTN	7273	genome.wustl.edu	37	chr2	179579852	179579852	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcagacattatcttgtacttCttgccgctcctaagttctct	5	12	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:179579852C>T	ENST00000591111.1	-	88	25334	c.25110G>A	c.(25108-25110)aaG>aaA	p.K8370K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K7443K|TTN_ENST00000589042.1_Silent_p.K8687K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12544	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K7443K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTACTTCTTGCCGCTCC	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											334	315	321					2																	179579852		1935	4126	6061	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25110G>A	2.37:g.179579852C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K7443	ENST00000591111.1	37	c.22329		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179579852	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179579852	C	T	179579852	2	4	61	1	0	0	0	0	0	0	0	1	16766	912	32	1		1	TTN	2	179579852	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	152402	179579852	63619521	57	9400										
TTN	7273	genome.wustl.edu	37	chr2	179638652	179638652	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atcttccttagtcatgtcttCaatgagcagcatatgagatt	7	8	4	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:179638652C>G	ENST00000591111.1	-	31	7467	c.7243G>C	c.(7243-7245)Gaa>Caa	p.E2415Q	TTN_ENST00000359218.5_Missense_Mutation_p.E2369Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2369Q|TTN_ENST00000360870.5_Missense_Mutation_p.E2415Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2415Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E2415Q|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2369Q			Q8WZ42	TITIN_HUMAN	titin	12737	Ig-like 13.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E2415Q(3)|p.E2369Q(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCATGTCTTCAATGAGCAGC	0.478																																																	6	Substitution - Missense(6)	cervix(6)											135	112	120					2																	179638652		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7243G>C	2.37:g.179638652C>G	ENSP00000465570:p.Glu2415Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2415Q	ENST00000591111.1	37	c.7243		2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841174	0.51057	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71668	0.3367	L	0.28115	0.83	0.41685	D	0.98931	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.74497	-0.3646	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2369;2369;2369;2415;2415	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2415;2369;2369;2369;2369;2415	ENSP00000343764:E2415Q;ENSP00000434586:E2369Q;ENSP00000340554:E2369Q;ENSP00000352154:E2369Q;ENSP00000354117:E2415Q	ENSP00000340554:E2369Q	E	-	1	0	TTN	179346897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.765000	0.95021	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179638652	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179638652	C	G	179638652	3	3	61	1	0	0	0	0	1	0	0	0	16766	835	29	1	104073	1	TTN	2	179638652	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	58800	179638652	63560721	58	9401										
NCKAP1	10787	genome.wustl.edu	37	chr2	183826922	183826922	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acactgttctgtgcaaatatCagtgatgagatttcgagctt	9	7	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:183826922C>T	ENST00000361354.4	-	18	2218	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	NCKAP1_ENST00000360982.2_Missense_Mutation_p.D622N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	616					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.D622N(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTGCAAATATCAGTGATGAGA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											175	159	165					2																	183826922		2203	4300	6503	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1846G>A	2.37:g.183826922C>T	ENSP00000355348:p.Asp616Asn		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.D622N	ENST00000361354.4	37	c.1864	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158261	0.57368	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.05	5.05	0.67936	.	0.043673	0.85682	D	0.000000	T	0.27967	0.0689	N	0.03608	-0.345	0.80722	D	1	D;D	0.59357	0.985;0.981	P;P	0.58970	0.849;0.765	T	0.26985	-1.0087	10	0.15499	T	0.54	-15.4449	18.773	0.91899	0.0:1.0:0.0:0.0	.	616;622	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	N	616;622	ENSP00000355348:D616N;ENSP00000354251:D622N	ENSP00000354251:D622N	D	-	1	0	NCKAP1	183535167	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.794000	0.85869	2.517000	0.84864	0.655000	0.94253	GAT	NCKAP1	-	pfam_Nck-associated_protein-1		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	C	NM_205842		183826922	-1	no_errors	ENST00000360982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183826922	C	T	183826922	3	4	61	1	0	0	0	0	1	0	0	0	10245	826	29	1	1596	1	NCKAP1	2	183826922	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4188270	183826922	59372451	59	9402										
COL3A1	1281	genome.wustl.edu	37	chr2	189868143	189868143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tccatttcatatagggtcctCctggtccccaaggtgtcaaa	8	12	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:189868143C>T	ENST00000304636.3	+	37	2730	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	854	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P854S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATAGGGTCCTCCTGGTCCCCA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											96	96	96					2																	189868143		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2560C>T	2.37:g.189868143C>T	ENSP00000304408:p.Pro854Ser		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P854S	ENST00000304636.3	37	c.2560	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732550	0.30684	.	.	ENSG00000168542	ENST00000304636	D	0.98649	-5.05	5.61	4.74	0.60224	.	0.000000	0.51477	D	0.000094	D	0.96975	0.9012	M	0.73372	2.23	0.80722	D	1	B	0.17852	0.024	B	0.10450	0.005	D	0.95257	0.8365	10	0.11182	T	0.66	.	11.5806	0.50889	0.0:0.8572:0.0:0.1428	.	854	P02461	CO3A1_HUMAN	S	854	ENSP00000304408:P854S	ENSP00000304408:P854S	P	+	1	0	COL3A1	189576388	0.190000	0.23276	0.997000	0.53966	0.962000	0.63368	0.310000	0.19356	1.380000	0.46344	0.557000	0.71058	CCT	COL3A1	-	NULL		0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	C	NM_000090		189868143	1	no_errors	ENST00000304636	ensembl	human	known	70_37	missense	SNP	0.979	T	T	189868143	C	T	189868143	3	4	61	1	0	0	0	0	1	0	0	0	3693	855	30	1	2706	1	COL3A1	2	189868143	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6041221	189868143	53331230	60	9403										
WDR75	84128	genome.wustl.edu	37	chr2	190329969	190329969	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaactgtggatgtataataaGaaaacacaagggtaatacta	8	4	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:190329969G>A	ENST00000314761.4	+	12	1338	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	426						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K426K(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGTATAATAAGAAAACACAAG	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											60	65	64					2																	190329969		2203	4297	6500	SO:0001819	synonymous_variant	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1278G>A	2.37:g.190329969G>A			Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K426	ENST00000314761.4	37	c.1278	CCDS2298.1	2																																																																																			WDR75	-	NULL		0.353	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	G	NM_032168		190329969	1	no_errors	ENST00000314761	ensembl	human	known	70_37	silent	SNP	1.000	A	A	190329969	G	A	190329969	2	1	61	1	0	0	0	0	0	0	0	1	17356	933	33	1		1	WDR75	2	190329969	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	461826	190329969	52869404	61	9404										
HECW2	57520	genome.wustl.edu	37	chr2	197208446	197208446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctttttgtgttccagtcacaCccctgttcttagaatcccag	6	13	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:197208446C>T	ENST00000260983.3	-	3	517	c.335G>A	c.(334-336)gGt>gAt	p.G112D	HECW2_ENST00000409111.1_De_novo_Start_OutOfFrame	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	112					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G112D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCAGTCACACCCCTGTTCTT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											168	184	179					2																	197208446		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.335G>A	2.37:g.197208446C>T	ENSP00000260983:p.Gly112Asp		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G112D	ENST00000260983.3	37	c.335	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.656257	0.96724	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.43688	0.94;0.94;0.94	6.06	6.06	0.98353	.	0.055383	0.64402	D	0.000001	T	0.66577	0.2803	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66023	-0.6026	10	0.66056	D	0.02	.	19.3923	0.94587	0.0:1.0:0.0:0.0	.	112	Q9P2P5	HECW2_HUMAN	D	112	ENSP00000260983:G112D;ENSP00000409918:G112D;ENSP00000395770:G112D	ENSP00000260983:G112D	G	-	2	0	HECW2	196916691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.520000	0.81821	2.882000	0.98803	0.655000	0.94253	GGT	HECW2	-	NULL		0.378	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	C	NM_020760		197208446	-1	no_errors	ENST00000260983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197208446	C	T	197208446	3	4	61	1	0	0	0	0	1	0	0	0	7063	507	18	4	4491	4	HECW2	2	197208446	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6878477	197208446	45990927	62	9405										
BMPR2	659	genome.wustl.edu	37	chr2	203407068	203407068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gagtaccagatggcttttcaGacagaggttggaaaccatcc	11	9	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:203407068G>A	ENST00000374580.4	+	10	1850	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	BMPR2_ENST00000374574.2_Silent_p.Q437Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.Q437Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGCTTTTCAGACAGAGGTTG	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											66	67	67					2																	203407068		2203	4300	6503	SO:0001819	synonymous_variant	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1311G>A	2.37:g.203407068G>A			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q437	ENST00000374580.4	37	c.1311	CCDS33361.1	2																																																																																			BMPR2	-	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		0.413	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	G	NM_001204		203407068	1	no_errors	ENST00000374580	ensembl	human	known	70_37	silent	SNP	1.000	A	A	203407068	G	A	203407068	2	1	61	1	0	0	0	0	0	0	0	1	1472	933	33	1		1	BMPR2	2	203407068	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6198622	203407068	39792305	63	9406										
FANCD2	2177	genome.wustl.edu	37	chr3	10142946	10142946	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agttatgatgactctgattaGaccccagataaattgttgcc	8	8	1	5			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:10142946G>C	ENST00000419585.1	+	44	4517	c.4356G>C	c.(4354-4356)taG>taC	p.*1452Y	FANCD2_ENST00000383807.1_Nonstop_Mutation_p.*1452Y|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	0					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.*1452Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTCTGATTAGACCCCAGATA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	1	Nonstop extension(1)	cervix(1)											201	181	187					3																	10142946		2203	4300	6503	SO:0001578	stop_lost	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4356G>C	3.37:g.10142946G>C	ENSP00000398754:p.*1452Tyrext*120		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonstop_Mutation	SNP	superfamily_ARM-type_fold	p.*1452Y	ENST00000419585.1	37	c.4356	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408287	0.42715	.	.	ENSG00000144554	ENST00000383807;ENST00000419585	.	.	.	4.88	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3059	0.37874	0.0979:0.0:0.9021:0.0	.	.	.	.	Y	1452	.	.	X	+	3	2	FANCD2	10117946	0.996000	0.38824	0.167000	0.22817	0.072000	0.16883	2.366000	0.44204	1.437000	0.47472	0.650000	0.86243	TAG	FANCD2	-	NULL		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	G			10142946	1	no_errors	ENST00000383807	ensembl	human	known	70_37	nonstop	SNP	0.744	C	C	10142946	G	C	10142946	4	2	61	1	0	0	0	0	0	0	0	0	5683	937	33	1	4661	1	FANCD2	3	10142946	Nonstop_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08		10142946	187879484	64	9407										
PLCL2	23228	genome.wustl.edu	37	chr3	17051428	17051428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	catcaaggaagtgagaacagGaaaaaacacagacatattcc	8	8	1	2	rs77416948		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:17051428G>A	ENST00000418129.2	+	2	677	c.212G>A	c.(211-213)gGa>gAa	p.G71E	PLCL2_ENST00000396755.2_Missense_Mutation_p.G71E|PLCL2_ENST00000432376.1_Missense_Mutation_p.G71E|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	197					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G71E(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTGAGAACAGGAAAAAACACA	0.418																																																	2	Substitution - Missense(2)	cervix(1)|skin(1)											107	105	105					3																	17051428		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.212G>A	3.37:g.17051428G>A	ENSP00000409637:p.Gly71Glu		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G71E	ENST00000418129.2	37	c.212	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811029	0.70797	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.70516	-0.49;-0.49;-0.49	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87404	0.2371	9	0.87932	D	0	.	18.8129	0.92065	0.0:0.0:1.0:0.0	.	197;71	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	E	71;198;71;71	ENSP00000409637:G71E;ENSP00000379979:G71E;ENSP00000412836:G71E	ENSP00000285094:G198E	G	+	2	0	PLCL2	17026432	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.869000	0.99810	2.460000	0.83146	0.491000	0.48974	GGA	PLCL2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17051428	1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17051428	G	A	17051428	3	1	61	1	0	0	0	0	1	0	0	0	12064	1174	41	1	590	1	PLCL2	3	17051428	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6908482	17051428	180971002	65	9408										
ARPP21	10777	genome.wustl.edu	37	chr3	35833939	35833939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	taggagtgcagcagccacctCagagtcagaacgtgataaat	11	9	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:35833939C>A	ENST00000187397.4	+	19	2554	c.2098C>A	c.(2098-2100)Cag>Aag	p.Q700K	ARPP21_ENST00000417925.1_Missense_Mutation_p.Q701K|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q681K|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q701K|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q681K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	700	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.Q700K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAGCCACCTCAGAGTCAGAA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											160	150	153					3																	35833939		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2098C>A	3.37:g.35833939C>A	ENSP00000187397:p.Gln700Lys		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q701K	ENST00000187397.4	37	c.2101	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744970	0.69418	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.71	5.71	0.89125	.	0.089287	0.49305	D	0.000154	T	0.54159	0.1841	L	0.51422	1.61	0.38215	D	0.940585	B;P;B;B	0.38395	0.338;0.629;0.229;0.338	B;B;B;B	0.39840	0.116;0.311;0.05;0.116	T	0.59182	-0.7502	10	0.52906	T	0.07	-2.5409	19.8449	0.96704	0.0:1.0:0.0:0.0	.	701;223;700;681	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	K	701;681;681;700;701	ENSP00000414351:Q701K;ENSP00000337792:Q681K;ENSP00000405276:Q681K;ENSP00000187397:Q700K;ENSP00000412326:Q701K	ENSP00000187397:Q700K	Q	+	1	0	ARPP21	35808943	1.000000	0.71417	0.919000	0.36401	0.985000	0.73830	5.989000	0.70587	2.680000	0.91292	0.655000	0.94253	CAG	ARPP21	-	NULL		0.473	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35833939	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35833939	C	A	35833939	3	1	61	1	0	0	0	0	1	0	0	0	979	827	29	3	2177	3	ARPP21	3	35833939	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	18782511	35833939	162188491	66	9409										
VPRBP	9730	genome.wustl.edu	37	chr3	51457372	51457372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggcaactggattcttgcagcGagcatgttgttctctaagat	11	8	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:51457372G>A	ENST00000335891.5	-	7	1714	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1018	Chromo.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.R1022C(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTCTTGCAGCGAGCATGTTGT	0.493																																																	1	Substitution - Missense(1)	cervix(1)											219	218	218					3																	51457372		2032	4176	6208	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1705C>T	3.37:g.51457372G>A	ENSP00000338857:p.Arg569Cys		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R569C	ENST00000335891.5	37	c.1705		3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979003	0.74360	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.56444	0.46;0.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65755	-0.6091	10	0.72032	D	0.01	-10.6771	20.3017	0.98615	0.0:0.0:1.0:0.0	.	1018	Q9Y4B6	VPRBP_HUMAN	C	589;569	ENSP00000393183:R589C;ENSP00000338857:R569C	ENSP00000338857:R569C	R	-	1	0	VPRBP	51432412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.057000	0.93889	2.800000	0.96347	0.650000	0.86243	CGC	VPRBP	-	superfamily_ARM-type_fold		0.493	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		G	NM_014703		51457372	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51457372	G	A	51457372	3	1	61	1	0	0	0	0	1	0	0	0	17216	1058	37	1	1515	1	VPRBP	3	51457372	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	15623433	51457372	146565058	67	9410										
CACNA1D	776	genome.wustl.edu	37	chr3	53808636	53808636	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtttgggaaagttgccatgaGagataacaaccagatcaata	10	6	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:53808636G>A	ENST00000350061.5	+	34	4644	c.4133G>A	c.(4132-4134)aGa>aAa	p.R1378K	CACNA1D_ENST00000540742.1_Missense_Mutation_p.R270K|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1398K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1363K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1378					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R1398K(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGCCATGAGAGATAACAAC	0.448																																																	1	Substitution - Missense(1)	cervix(1)											116	117	117					3																	53808636		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4133G>A	3.37:g.53808636G>A	ENSP00000288133:p.Arg1378Lys		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.R1398K	ENST00000350061.5	37	c.4193	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733055	0.15507	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86	6.06	3.3	0.37823	Ion transport (1);	0.189943	0.46442	D	0.000285	D	0.93504	0.7927	N	0.17248	0.465	0.80722	D	1	B;B;B;B;B	0.21753	0.013;0.0;0.026;0.06;0.01	B;B;B;B;B	0.22152	0.029;0.002;0.017;0.038;0.01	D	0.90020	0.4127	10	0.11182	T	0.66	.	10.9318	0.47222	0.2376:0.0:0.7624:0.0	.	1363;270;1071;1378;1398	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	K	1378;1398;1363;1071;270	ENSP00000288133:R1378K;ENSP00000288139:R1398K;ENSP00000409174:R1363K;ENSP00000418014:R1071K;ENSP00000438229:R270K	ENSP00000288139:R1398K	R	+	2	0	CACNA1D	53783676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.575000	0.36493	1.582000	0.49881	-0.137000	0.14449	AGA	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	G	NM_000720		53808636	1	no_errors	ENST00000288139	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53808636	G	A	53808636	3	1	61	1	0	0	0	0	1	0	0	0	2546	942	33	1	4439	1	CACNA1D	3	53808636	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2351264	53808636	144213794	68	9411										
OR5H6	79295	genome.wustl.edu	37	chr3	97983234	97983234	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttctcacaggatttttacatCaacctgactgtaaaataccg	5	10	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:97983234C>T	ENST00000383696.2	+	1	147	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q36*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTTTACATCAACCTGACTG	0.413																																																	1	Substitution - Nonsense(1)	cervix(1)											180	185	183					3																	97983234		2203	4299	6502	SO:0001587	stop_gained	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.106C>T	3.37:g.97983234C>T	ENSP00000373196:p.Gln36*		Q6IF88	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q36*	ENST00000383696.2	37	c.106	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	12.03	1.815704	0.32145	.	.	ENSG00000230301	ENST00000383696	.	.	.	2.19	1.21	0.21127	.	0.550372	0.15202	N	0.274955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	6.4564	0.21932	0.5177:0.4823:0.0:0.0	.	.	.	.	X	36	.	ENSP00000373196:Q36X	Q	+	1	0	OR5H6	99465924	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.257000	0.02866	0.203000	0.20529	0.194000	0.17425	CAA	OR5H6	-	NULL		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	C			97983234	1	no_errors	ENST00000383696	ensembl	human	known	70_37	nonsense	SNP	0.004	T	T	97983234	C	T	97983234	4	4	61	1	0	0	0	0	0	1	0	0	11187	827	29	1	108	1	OR5H6	3	97983234	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	44174598	97983234	100039196	69	9412										
GPR128	84873	genome.wustl.edu	37	chr3	100413635	100413635	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gttagaacaaaagtcttccaGagtgaagcttccaaagtgtt	9	7	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:100413635G>A	ENST00000273352.3	+	16	2452	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	GPR128_ENST00000475887.1_Silent_p.Q433Q|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	728					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q728Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AAGTCTTCCAGAGTGAAGCTT	0.408																																					Pancreas(87;185 1975 7223 18722)												1	Substitution - coding silent(1)	cervix(1)											89	93	92					3																	100413635		2203	4300	6503	SO:0001819	synonymous_variant	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2184G>A	3.37:g.100413635G>A			Q14D94|Q86SQ2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q728	ENST00000273352.3	37	c.2184	CCDS2938.1	3																																																																																			GPR128	-	NULL		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	G			100413635	1	no_errors	ENST00000273352	ensembl	human	known	70_37	silent	SNP	0.840	A	A	100413635	G	A	100413635	2	1	61	1	0	0	0	0	0	0	0	1	6660	933	33	1		1	GPR128	3	100413635	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2430401	100413635	97608795	70	9413										
BTLA	151888	genome.wustl.edu	37	chr3	112198561	112198561	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcaaagggatctcctgctaaGatggagtgttcagattgtct	11	7	4	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:112198561G>A	ENST00000334529.5	-	2	346	c.144C>T	c.(142-144)atC>atT	p.I48I	BTLA_ENST00000383680.4_Silent_p.I48I	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	48	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I48I(1)		breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTCCTGCTAAGATGGAGTGTT	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											96	91	92					3																	112198561		2203	4300	6503	SO:0001819	synonymous_variant	151888			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.144C>T	3.37:g.112198561G>A			Q3B831|Q3HS85|Q6ZNH9	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.I48	ENST00000334529.5	37	c.144	CCDS33819.1	3																																																																																			BTLA	-	smart_Ig_sub,pfscan_Ig-like		0.368	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	G	NM_181780		112198561	-1	no_errors	ENST00000334529	ensembl	human	known	70_37	silent	SNP	0.000	A	A	112198561	G	A	112198561	2	1	61	1	0	0	0	0	0	0	0	1	1561	932	33	1		1	BTLA	3	112198561	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11784926	112198561	85823869	71	9414										
LSAMP	4045	genome.wustl.edu	37	chr3	115560717	115560717	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggactaggctggcattggtGacccccagcttgttggcagc	14	11	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:115560717G>A	ENST00000490035.2	-	6	1393	c.894C>T	c.(892-894)gtC>gtT	p.V298V	LSAMP_ENST00000539563.1_Silent_p.V295V|LSAMP_ENST00000498645.1_5'Flank	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	298	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V298V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TGGCATTGGTGACCCCCAGCT	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											101	86	91					3																	115560717		2203	4300	6503	SO:0001819	synonymous_variant	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.894C>T	3.37:g.115560717G>A			Q8IV49	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V298	ENST00000490035.2	37	c.894	CCDS2982.1	3																																																																																			LSAMP	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	HGNC	protein_coding	OTTHUMT00000354495.4	G	NM_002338		115560717	-1	no_errors	ENST00000490035	ensembl	human	known	70_37	silent	SNP	0.996	A	A	115560717	G	A	115560717	2	1	61	1	0	0	0	0	0	0	0	1	9071	1277	45	1		1	LSAMP	3	115560717	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3362156	115560717	82461713	72	9415										
PARP14	54625	genome.wustl.edu	37	chr3	122439176	122439176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agctgctgcctagtgatcctGagtacaacacggtggcaagc	12	11	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:122439176G>C	ENST00000474629.2	+	15	5148	c.4882G>C	c.(4882-4884)Gag>Cag	p.E1628Q	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1628	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E1465Q(1)|p.E1628Q(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TAGTGATCCTGAGTACAACAC	0.473																																																	2	Substitution - Missense(2)	cervix(2)											105	101	102					3																	122439176		2035	4205	6240	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4882G>C	3.37:g.122439176G>C	ENSP00000418194:p.Glu1628Gln		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E1628Q	ENST00000474629.2	37	c.4882	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409682	0.62399	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.20069	2.1	5.06	4.19	0.49359	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.081866	0.50627	D	0.000108	T	0.55497	0.1924	H	0.94808	3.585	0.48571	D	0.99967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.66744	-0.5846	10	0.87932	D	0	.	11.2598	0.49076	0.0884:0.0:0.9116:0.0	.	1628;1628	Q460N5-4;Q460N5	.;PAR14_HUMAN	Q	1628;1547;231;624	ENSP00000418194:E1628Q	ENSP00000310633:E231Q	E	+	1	0	PARP14	123921866	1.000000	0.71417	0.133000	0.22050	0.002000	0.02628	6.518000	0.73764	1.371000	0.46172	-0.142000	0.14014	GAG	PARP14	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.473	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122439176	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.981	C	C	122439176	G	C	122439176	3	2	61	1	0	0	0	0	1	0	0	0	11482	1291	45	1	4940	1	PARP14	3	122439176	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6878459	122439176	75583254	73	9416										
TRIM42	287015	genome.wustl.edu	37	chr3	140401568	140401568	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgcatgccctacagcaacaaGatgcagctgcccgagaacta	9	13	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:140401568G>C	ENST00000286349.3	+	2	797	c.606G>C	c.(604-606)aaG>aaC	p.K202N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	202						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K202N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACAGCAACAAGATGCAGCTGC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											85	81	82					3																	140401568		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.606G>C	3.37:g.140401568G>C	ENSP00000286349:p.Lys202Asn		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.K202N	ENST00000286349.3	37	c.606	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157900	0.38119	.	.	ENSG00000155890	ENST00000286349	T	0.38240	1.15	5.2	4.31	0.51392	Zinc finger, RING/FYVE/PHD-type (1);	0.301709	0.28317	N	0.015797	T	0.31513	0.0799	L	0.50333	1.59	0.28733	N	0.902374	B	0.28128	0.201	B	0.26969	0.075	T	0.23619	-1.0183	10	0.45353	T	0.12	-29.8985	10.0076	0.41965	0.0954:0.0:0.9046:0.0	.	202	Q8IWZ5	TRI42_HUMAN	N	202	ENSP00000286349:K202N	ENSP00000286349:K202N	K	+	3	2	TRIM42	141884258	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.052000	0.49893	1.173000	0.42796	0.561000	0.74099	AAG	TRIM42	-	NULL		0.627	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	G	NM_152616		140401568	1	no_errors	ENST00000286349	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140401568	G	C	140401568	3	2	61	1	0	0	0	0	1	0	0	0	16548	933	33	1	612	1	TRIM42	3	140401568	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	17962392	140401568	57620862	74	9417										
SI	6476	genome.wustl.edu	37	chr3	164710130	164710130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tactggggtaaccataaatgCtggaccccataagaactgct	9	10	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:164710130C>T	ENST00000264382.3	-	42	4959	c.4897G>A	c.(4897-4899)Gca>Aca	p.A1633T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1633	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A1633T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACCATAAATGCTGGACCCCAT	0.308										HNSCC(35;0.089)																																							1	Substitution - Missense(1)	cervix(1)											60	62	61					3																	164710130		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4897G>A	3.37:g.164710130C>T	ENSP00000264382:p.Ala1633Thr		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.A1633T	ENST00000264382.3	37	c.4897	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.117688	0.94385	.	.	ENSG00000090402	ENST00000264382	D	0.91740	-2.9	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96144	0.9102	10	0.87932	D	0	.	18.1895	0.89803	0.0:1.0:0.0:0.0	.	1633	P14410	SUIS_HUMAN	T	1633	ENSP00000264382:A1633T	ENSP00000264382:A1633T	A	-	1	0	SI	166192824	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.391000	0.66266	2.689000	0.91719	0.655000	0.94253	GCA	SI	-	pfam_Glyco_hydro_31		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164710130	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	1.000	T	T	164710130	C	T	164710130	3	4	61	1	0	0	0	0	1	0	0	0	14327	797	28	4	614	4	SI	3	164710130	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	24308562	164710130	33312300	75	9418										
LRRC31	79782	genome.wustl.edu	37	chr3	169566073	169566073	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agagaggtgaacagaggcttCagctaaaagtgataacaata	11	5	1	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:169566073C>T	ENST00000316428.5	-	8	1219	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	LRRC31_ENST00000523069.1_Missense_Mutation_p.E388K|LRRC31_ENST00000264676.5_Missense_Mutation_p.E332K	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	388								p.E388K(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACAGAGGCTTCAGCTAAAAGT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											56	53	54					3																	169566073		1922	4135	6057	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1162G>A	3.37:g.169566073C>T	ENSP00000325978:p.Glu388Lys		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E388K	ENST00000316428.5	37	c.1162	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610726	0.46527	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.53423	0.62;0.62;0.62	4.61	3.73	0.42828	.	0.418828	0.25765	N	0.028453	T	0.41834	0.1176	M	0.67953	2.075	0.29271	N	0.870698	P;P	0.47545	0.897;0.7	B;B	0.38327	0.271;0.173	T	0.40997	-0.9533	10	0.18276	T	0.48	-4.519	12.8041	0.57603	0.0:0.9199:0.0:0.0801	.	332;388	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	K	388;332;388	ENSP00000325978:E388K;ENSP00000264676:E332K;ENSP00000429145:E388K	ENSP00000264676:E332K	E	-	1	0	LRRC31	171048767	1.000000	0.71417	0.013000	0.15412	0.007000	0.05969	3.369000	0.52365	0.922000	0.37019	0.655000	0.94253	GAA	LRRC31	-	NULL		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	C	NM_024727		169566073	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.998	T	T	169566073	C	T	169566073	3	4	61	1	0	0	0	0	1	0	0	0	9009	835	29	1	504	1	LRRC31	3	169566073	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4855943	169566073	28456357	76	9419										
TNIK	23043	genome.wustl.edu	37	chr3	170858220	170858220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cgcacgcctcctctcctcctCccggcgcatctgctcctcat	6	22	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:170858220C>T	ENST00000436636.2	-	13	1644	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	TNIK_ENST00000538048.1_Missense_Mutation_p.E434K|TNIK_ENST00000341852.6_Missense_Mutation_p.E434K|TNIK_ENST00000357327.5_Missense_Mutation_p.E434K|TNIK_ENST00000488470.1_Missense_Mutation_p.E434K|TNIK_ENST00000369326.5_Missense_Mutation_p.E434K|TNIK_ENST00000470834.1_Missense_Mutation_p.E434K|TNIK_ENST00000284483.8_Missense_Mutation_p.E434K|TNIK_ENST00000475336.1_Missense_Mutation_p.E434K|TNIK_ENST00000460047.1_Missense_Mutation_p.E434K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	434	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E434K(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCTCCTCCTCCCGGCGCATC	0.652																																																	2	Substitution - Missense(2)	cervix(2)											96	106	103					3																	170858220		2062	4193	6255	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1300G>A	3.37:g.170858220C>T	ENSP00000399511:p.Glu434Lys		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E434K	ENST00000436636.2	37	c.1300	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474493	0.84640	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;1.0;0.91;1.0;0.91;1.0;1.0;0.91;0.91;1.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	M	0.76170	2.325	0.80722	D	1	P;P;P;P;P;P;P;P	0.41784	0.762;0.762;0.762;0.762;0.762;0.762;0.762;0.649	B;B;B;B;B;B;B;B	0.42555	0.391;0.391;0.391;0.391;0.391;0.391;0.391;0.219	T	0.44877	-0.9299	10	0.18710	T	0.47	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	434;434;434;434;434;434;434;434	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	K	434	ENSP00000399511:E434K;ENSP00000358332:E434K;ENSP00000443278:E434K;ENSP00000345352:E434K;ENSP00000284483:E434K;ENSP00000418156:E434K;ENSP00000349880:E434K;ENSP00000418916:E434K;ENSP00000418378:E434K;ENSP00000419990:E434K	ENSP00000284483:E434K	E	-	1	0	TNIK	172340914	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.614000	0.82996	2.608000	0.88229	0.650000	0.86243	GAG	TNIK	-	NULL		0.652	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170858220	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170858220	C	T	170858220	3	4	61	1	0	0	0	0	1	0	0	0	16343	864	30	1	2866	1	TNIK	3	170858220	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	1292147	170858220	27164210	77	9420										
NAALADL2	254827	genome.wustl.edu	37	chr3	174814830	174814830	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcacccaaaggaaggttccaGagacttcaagaagaatctga	9	9	3	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:174814830G>C	ENST00000454872.1	+	2	422	c.294G>C	c.(292-294)caG>caC	p.Q98H	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	98						integral component of membrane (GO:0016021)		p.Q98H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAAGGTTCCAGAGACTTCAAG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											66	65	65					3																	174814830		1871	4105	5976	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.294G>C	3.37:g.174814830G>C	ENSP00000404705:p.Gln98His		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.Q98H	ENST00000454872.1	37	c.294	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027486	0.54683	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.34859	1.38;1.34	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000096	T	0.47192	0.1432	L	0.27053	0.805	0.29442	N	0.859113	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	T	0.45249	-0.9274	10	0.87932	D	0	-13.5246	14.4265	0.67220	0.0704:0.0:0.9296:0.0	.	81;98	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	H	81;98	ENSP00000409858:Q81H;ENSP00000404705:Q98H	ENSP00000409858:Q81H	Q	+	3	2	NAALADL2	176297524	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	3.738000	0.55067	2.850000	0.98022	0.650000	0.86243	CAG	NAALADL2	-	NULL		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	G	NM_207015		174814830	1	no_errors	ENST00000454872	ensembl	human	known	70_37	missense	SNP	0.998	C	C	174814830	G	C	174814830	3	2	61	1	0	0	0	0	1	0	0	0	10153	933	33	1	300	1	NAALADL2	3	174814830	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3956610	174814830	23207600	78	9421										
SOX2	6657	genome.wustl.edu	37	chr3	181430620	181430620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cgggcgtgaaccagcgcatgGacagttacgcgcacatgaac	13	12	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:181430620G>A	ENST00000325404.1	+	1	899	c.472G>A	c.(472-474)Gac>Aac	p.D158N	SOX2_ENST00000431565.2_Missense_Mutation_p.D158N	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	158					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D158N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CCAGCGCATGGACAGTTACGC	0.716			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	1	Substitution - Missense(1)	cervix(1)											14	14	14					3																	181430620		2197	4296	6493	SO:0001583	missense	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.472G>A	3.37:g.181430620G>A	ENSP00000323588:p.Asp158Asn		Q14537	Missense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D158N	ENST00000325404.1	37	c.472	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727032	0.89390	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.88124	-2.34;-2.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.75447	2.3	0.80722	D	1	P	0.38250	0.624	B	0.40329	0.326	D	0.89341	0.3654	10	0.54805	T	0.06	.	18.2299	0.89931	0.0:0.0:1.0:0.0	.	158	P48431	SOX2_HUMAN	N	158	ENSP00000439111:D158N;ENSP00000323588:D158N	ENSP00000323588:D158N	D	+	1	0	SOX2	182913314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.681000	0.98653	2.597000	0.87782	0.585000	0.79938	GAC	SOX2	-	pfam_TF_SOX		0.716	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	G	NM_003106		181430620	1	no_errors	ENST00000325404	ensembl	human	known	70_37	missense	SNP	1.000	A	A	181430620	G	A	181430620	3	1	61	1	0	0	0	0	1	0	0	0	14979	1174	41	1	474	1	SOX2	3	181430620	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6615790	181430620	16591810	79	9422										
LEPREL1	55214	genome.wustl.edu	37	chr3	189711934	189711934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccctaaatactcatattcttCaaatctctgaggcccctcac	3	15	5	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:189711934C>G	ENST00000319332.5	-	3	969	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E77Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	258					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.E258Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATATTCTTCAAATCTCTGA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											74	74	74					3																	189711934		2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.772G>C	3.37:g.189711934C>G	ENSP00000316881:p.Glu258Gln		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E258Q	ENST00000319332.5	37	c.772	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904110	0.72754	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.72	5.72	0.89469	.	0.096276	0.64402	D	0.000001	T	0.60547	0.2277	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.58520	0.84	T	0.55036	-0.8203	9	.	.	.	-22.0614	18.8634	0.92281	0.0:1.0:0.0:0.0	.	258	Q8IVL5	P3H2_HUMAN	Q	258;77;77;77	ENSP00000316881:E258Q;ENSP00000408947:E77Q;ENSP00000391374:E77Q;ENSP00000394326:E77Q	.	E	-	1	0	LEPREL1	191194628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.162000	0.77515	2.711000	0.92665	0.655000	0.94253	GAA	LEPREL1	-	NULL		0.363	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189711934	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	1.000	G	G	189711934	C	G	189711934	3	3	61	1	0	0	0	0	1	0	0	0	8750	835	29	1	1406	1	LEPREL1	3	189711934	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	8281314	189711934	8310496	80	9423										
PAK2	5062	genome.wustl.edu	37	chr3	196532222	196532222	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tatgttttgtttcatattcaGagaaagatggctttccttct	7	6	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:196532222G>A	ENST00000327134.3	+	5	758		c.e5-1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.?(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTCATATTCAGAGAAAGATGG	0.294																																																	2	Unknown(2)	cervix(2)											87	88	88					3																	196532222		2202	4294	6496	SO:0001630	splice_region_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.437-1G>A	3.37:g.196532222G>A			Q13154|Q6ISC3	Splice_Site	SNP	-	e4-1	ENST00000327134.3	37	c.437-1	CCDS3321.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932232	0.73442	.	.	ENSG00000180370	ENST00000327134	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5872	0.84730	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK2	198016619	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.428000	0.80296	2.339000	0.79563	0.563000	0.77884	.	PAK2	-	-		0.294	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK2	HGNC	protein_coding	OTTHUMT00000340548.1	G	NM_002577	Intron	196532222	1	no_errors	ENST00000327134	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	196532222	G	A	196532222	5	1	61	1	0	0	0	0	0	0	1	0	11425	956	33	1	450	1	PAK2	3	196532222	Splice_Site	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6820288	196532222	1490208	81	9424										
SORCS2	57537	genome.wustl.edu	37	chr4	7725534	7725534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cggcaccgctacgagagcccCggcatctaccgcgtgtccgt	12	17	1	1	rs370198948		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:7725534C>T	ENST00000507866.2	+	19	2644	c.2535C>T	c.(2533-2535)ccC>ccT	p.P845P	SORCS2_ENST00000329016.9_Silent_p.P673P	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	845	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.P695P(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGAGAGCCCCGGCATCTACC	0.592																																																	2	Substitution - coding silent(2)	cervix(1)|breast(1)						T		4,4118		0,4,2057	88	90	89		2535	-5.7	0.1	4		89	0,8378		0,0,4189	no	coding-synonymous	SORCS2	NM_020777.2		0,4,6246	TT,TC,CC		0.0,0.097,0.032		845/1160	7725534	4,12496	2061	4189	6250	SO:0001819	synonymous_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2535C>T	4.37:g.7725534C>T			Q9P2L7	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.P845	ENST00000507866.2	37	c.2535	CCDS47008.1	4																																																																																			SORCS2	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom		0.592	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	C	NM_020777		7725534	1	no_errors	ENST00000507866	ensembl	human	known	70_37	silent	SNP	0.071	T	T	7725534	C	T	7725534	2	4	61	1	0	0	0	0	0	0	0	1	14961	639	23	2		2	SORCS2	4	7725534	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		7725534	183428742	82	9425										
BOD1L	259282	genome.wustl.edu	37	chr4	13602587	13602587	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgatcagatgcagcactagtCataggaccctcacaacctcc	7	14	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:13602587C>T	ENST00000040738.5	-	10	6072	c.5937G>A	c.(5935-5937)atG>atA	p.M1979I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1979						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1979I(1)									CAGCACTAGTCATAGGACCCT	0.478																																																	1	Substitution - Missense(1)	cervix(1)											135	129	131					4																	13602587		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5937G>A	4.37:g.13602587C>T	ENSP00000040738:p.Met1979Ile		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.M1979I	ENST00000040738.5	37	c.5937	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374904	0.42105	.	.	ENSG00000038219	ENST00000040738	T	0.07216	3.21	5.62	4.78	0.61160	.	0.159373	0.44902	D	0.000413	T	0.07143	0.0181	L	0.29908	0.895	0.33841	D	0.631489	B	0.34103	0.437	B	0.30401	0.115	T	0.21484	-1.0244	10	0.39692	T	0.17	-6.6058	12.8335	0.57759	0.0:0.9243:0.0:0.0757	.	1979	Q8NFC6	BOD1L_HUMAN	I	1979	ENSP00000040738:M1979I	ENSP00000040738:M1979I	M	-	3	0	BOD1L	13211685	1.000000	0.71417	0.083000	0.20561	0.867000	0.49689	4.754000	0.62191	1.369000	0.46134	0.561000	0.74099	ATG	BOD1L1	-	NULL		0.478	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13602587	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.865	T	T	13602587	C	T	13602587	3	4	61	1	0	0	0	0	1	0	0	0	1484	826	29	1	3286	1	BOD1L	4	13602587	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5877053	13602587	177551689	83	9426										
BOD1L	259282	genome.wustl.edu	37	chr4	13603815	13603815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caacatgaagaggattatttCtggaatgtgttcctattatg	9	5	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:13603815C>T	ENST00000040738.5	-	10	4844	c.4709G>A	c.(4708-4710)aGa>aAa	p.R1570K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1570						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1570K(1)									AGGATTATTTCTGGAATGTGT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											40	36	37					4																	13603815		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4709G>A	4.37:g.13603815C>T	ENSP00000040738:p.Arg1570Lys		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R1570K	ENST00000040738.5	37	c.4709	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	7.974	0.749797	0.15778	.	.	ENSG00000038219	ENST00000040738	T	0.05717	3.4	5.23	-4.14	0.03892	.	1.107660	0.06806	N	0.789447	T	0.02119	0.0066	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44190	-0.9344	10	0.02654	T	1	-3.1859	3.9997	0.09574	0.1177:0.1605:0.1299:0.5919	.	1570	Q8NFC6	BOD1L_HUMAN	K	1570	ENSP00000040738:R1570K	ENSP00000040738:R1570K	R	-	2	0	BOD1L	13212913	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.070000	0.14573	-0.575000	0.05982	-0.142000	0.14014	AGA	BOD1L1	-	NULL		0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13603815	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.000	T	T	13603815	C	T	13603815	3	4	61	1	0	0	0	0	1	0	0	0	1484	913	32	1	4514	1	BOD1L	4	13603815	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	1228	13603815	177550461	84	9427										
NCAPG	64151	genome.wustl.edu	37	chr4	17839398	17839398	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaccaagtggattaaatcctCaggccaagacttcccaagat	8	11	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:17839398C>T	ENST00000251496.2	+	16	2616	c.2440C>T	c.(2440-2442)Cag>Tag	p.Q814*		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	814					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q814*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTAAATCCTCAGGCCAAGAC	0.408																																																	1	Substitution - Nonsense(1)	cervix(1)											144	141	142					4																	17839398		2203	4300	6503	SO:0001587	stop_gained	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2440C>T	4.37:g.17839398C>T	ENSP00000251496:p.Gln814*		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q814*	ENST00000251496.2	37	c.2440	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.223870	0.97390	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.25	3.48	0.39840	.	0.165435	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-1.9998	9.0823	0.36558	0.2634:0.6672:0.0:0.0695	.	.	.	.	X	814	.	ENSP00000251496:Q814X	Q	+	1	0	NCAPG	17448496	0.977000	0.34250	1.000000	0.80357	0.365000	0.29674	0.541000	0.23207	0.663000	0.31027	0.591000	0.81541	CAG	NCAPG	-	NULL		0.408	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	C	NM_022346		17839398	1	no_errors	ENST00000251496	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	17839398	C	T	17839398	4	4	61	1	0	0	0	0	0	1	0	0	10231	827	29	1	2502	1	NCAPG	4	17839398	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4235583	17839398	173314878	85	9428										
SLIT2	9353	genome.wustl.edu	37	chr4	20530646	20530646	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gccctgaaaagtgtcgctgtGaaggaaccacagtagattgc	12	9	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:20530646G>A	ENST00000504154.1	+	16	1789	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	SLIT2_ENST00000503837.1_Missense_Mutation_p.E509K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E505K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E517K|MIR218-1_ENST00000384999.1_RNA	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	513	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.E513K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGTCGCTGTGAAGGAACCAC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											126	126	126					4																	20530646		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1537G>A	4.37:g.20530646G>A	ENSP00000422591:p.Glu513Lys		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E513K	ENST00000504154.1	37	c.1537	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929842	0.73327	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	M	0.84585	2.705	0.80722	D	1	P;D	0.58620	0.9;0.983	B;D	0.65233	0.363;0.933	D	0.98190	1.0462	10	0.56958	D	0.05	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	505;513	O94813-3;O94813	.;SLIT2_HUMAN	K	505;513;517;509;509	ENSP00000427548:E505K;ENSP00000422591:E513K;ENSP00000273739:E517K;ENSP00000422261:E509K	ENSP00000273739:E517K	E	+	1	0	SLIT2	20139744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.467000	0.97671	2.798000	0.96311	0.655000	0.94253	GAA	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	G			20530646	1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20530646	G	A	20530646	3	1	61	1	0	0	0	0	1	0	0	0	14770	1291	45	1	1599	1	SLIT2	4	20530646	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2691248	20530646	170623630	86	9429										
UGDH	7358	genome.wustl.edu	37	chr4	39507311	39507311	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atcagttactgtattaaacaGactatctatgatccgggaag	8	7	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:39507311G>A	ENST00000316423.6	-	8	1306	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	UGDH_ENST00000506179.1_Silent_p.L322L|UGDH_ENST00000501493.2_Silent_p.L255L|UGDH_ENST00000507089.1_Silent_p.L225L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	322					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.L322L(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GTATTAAACAGACTATCTATG	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											129	133	131					4																	39507311		2203	4300	6503	SO:0001819	synonymous_variant	7358			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.964C>T	4.37:g.39507311G>A			B3KUU2|B4DN25|O60589	Silent	SNP	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Nucleotide_sugar_DH	p.L322	ENST00000316423.6	37	c.964	CCDS3455.1	4																																																																																			UGDH	-	superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_Nucleotide_sugar_DH		0.348	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3	G	NM_003359		39507311	-1	no_errors	ENST00000316423	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39507311	G	A	39507311	2	1	61	1	0	0	0	0	0	0	0	1	16971	933	33	1		1	UGDH	4	39507311	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	18976665	39507311	151646965	87	9430										
CORIN	10699	genome.wustl.edu	37	chr4	47746544	47746544	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aattcaccatccccaggactGattcacagccttcttttgca	5	14	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:47746544G>A	ENST00000273857.4	-	5	673	c.674C>T	c.(673-675)tCa>tTa	p.S225L	CORIN_ENST00000505909.1_Missense_Mutation_p.S225L|CORIN_ENST00000504584.1_Missense_Mutation_p.S225L|CORIN_ENST00000502252.1_Missense_Mutation_p.S158L|CORIN_ENST00000508498.1_Missense_Mutation_p.S86L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	225	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.S225L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCCCAGGACTGATTCACAGCC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											151	164	159					4																	47746544		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.674C>T	4.37:g.47746544G>A	ENSP00000273857:p.Ser225Leu		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S225L	ENST00000273857.4	37	c.674	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518090	0.85495	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.26	5.26	0.73747	Frizzled domain (5);	0.235446	0.35235	N	0.003342	D	0.84543	0.5495	M	0.83384	2.64	0.44754	D	0.997755	P;P;P;P;P	0.45428	0.801;0.801;0.65;0.51;0.858	B;B;P;B;P	0.48334	0.322;0.419;0.574;0.375;0.505	D	0.86116	0.1565	10	0.49607	T	0.09	.	18.8441	0.92198	0.0:0.0:1.0:0.0	.	225;225;158;86;225	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	L	225;86;158;225;225	ENSP00000273857:S225L;ENSP00000425597:S86L;ENSP00000424212:S158L;ENSP00000425401:S225L;ENSP00000423216:S225L	ENSP00000273857:S225L	S	-	2	0	CORIN	47441301	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.135000	0.77276	2.427000	0.82271	0.491000	0.48974	TCA	CORIN	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom		0.438	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	G			47746544	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47746544	G	A	47746544	3	1	61	1	0	0	0	0	1	0	0	0	3757	1294	45	1	2526	1	CORIN	4	47746544	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8239233	47746544	143407732	88	9431										
SLC4A4	8671	genome.wustl.edu	37	chr4	72413402	72413402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaacccttgtgtttattctgActggtctgtcagtctttatg	9	8	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:72413402A>T	ENST00000264485.5	+	20	2776	c.2659A>T	c.(2659-2661)Act>Tct	p.T887S	SLC4A4_ENST00000340595.3_Missense_Mutation_p.T843S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.T887S|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	887					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.T887S(1)|p.T843S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTTTATTCTGACTGGTCTGTC	0.383																																																	2	Substitution - Missense(2)	cervix(2)											220	215	217					4																	72413402		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2659A>T	4.37:g.72413402A>T	ENSP00000264485:p.Thr887Ser		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T887S	ENST00000264485.5	37	c.2659	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	A	31	5.061203	0.93846	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	T;T;T	0.79247	-1.25;-1.25;-1.25	5.81	5.81	0.92471	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87787	0.6265	M	0.79011	2.435	0.80722	D	1	D;D;D	0.69078	0.997;0.964;0.995	D;P;D	0.76575	0.988;0.864;0.983	D	0.87429	0.2387	10	0.40728	T	0.16	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	887;843;887	A5JJ20;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	S	887;887;843	ENSP00000264485:T887S;ENSP00000393557:T887S;ENSP00000344272:T843S	ENSP00000264485:T887S	T	+	1	0	SLC4A4	72632266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.317000	0.96327	2.210000	0.71456	0.533000	0.62120	ACT	SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.383	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	A	NM_003759		72413402	1	no_errors	ENST00000425175	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72413402	A	T	72413402	3	4	61	1	0	0	0	0	1	0	0	0	14686	275	10	5	2854	5	SLC4A4	4	72413402	Missense_Mutation	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08	24666858	72413402	118740874	89	9432										
ADAMTS3	9508	genome.wustl.edu	37	chr4	73156718	73156718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgaaggcagcgtacagtgcGaagctgatagccagaacttc	12	10	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:73156718G>A	ENST00000286657.4	-	20	2821	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	929	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R929C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGTACAGTGCGAAGCTGATAG	0.542																																					NSCLC(168;1941 2048 2918 13048 43078)												1	Substitution - Missense(1)	cervix(1)											166	136	146					4																	73156718		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2785C>T	4.37:g.73156718G>A	ENSP00000286657:p.Arg929Cys		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R929C	ENST00000286657.4	37	c.2785	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941481	0.53079	.	.	ENSG00000156140	ENST00000286657	T	0.80909	-1.43	5.42	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	H	0.99881	4.885	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97462	1.0035	10	0.87932	D	0	.	16.0938	0.81109	0.0:0.1343:0.8656:0.0	.	929	O15072	ATS3_HUMAN	C	929	ENSP00000286657:R929C	ENSP00000286657:R929C	R	-	1	0	ADAMTS3	73375582	1.000000	0.71417	0.284000	0.24805	0.135000	0.20990	6.589000	0.74080	1.253000	0.44018	0.557000	0.71058	CGC	ADAMTS3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.542	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	G			73156718	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	0.998	A	A	73156718	G	A	73156718	3	1	61	1	0	0	0	0	1	0	0	0	267	1058	37	1	844	1	ADAMTS3	4	73156718	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	743316	73156718	117997558	90	9433										
BTC	685	genome.wustl.edu	37	chr4	75675896	75675896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggtaaaacaagtcaactctCtcacaccttgctccaatgta	5	12	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:75675896C>G	ENST00000395743.3	-	4	675	c.315G>C	c.(313-315)gaG>gaC	p.E105D		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	105	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)	p.E105D(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGTCAACTCTCTCACACCTTG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											198	209	206					4																	75675896		2203	4300	6503	SO:0001583	missense	685			S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.315G>C	4.37:g.75675896C>G	ENSP00000379092:p.Glu105Asp		Q96F48	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E105D	ENST00000395743.3	37	c.315	CCDS3566.1	4	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160101	0.57368	.	.	ENSG00000174808	ENST00000395743	T	0.27890	1.64	5.32	2.29	0.28610	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	M	0.61703	1.905	0.35960	D	0.834537	P	0.42078	0.77	B	0.43360	0.417	T	0.34527	-0.9825	10	0.56958	D	0.05	.	6.0302	0.19677	0.0:0.5548:0.0:0.4452	.	105	P35070	BTC_HUMAN	D	105	ENSP00000379092:E105D	ENSP00000379092:E105D	E	-	3	2	BTC	75894920	0.032000	0.19561	0.994000	0.49952	0.988000	0.76386	0.049000	0.14099	0.697000	0.31718	0.563000	0.77884	GAG	BTC	-	pfscan_EG-like_dom		0.383	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTC	HGNC	protein_coding	OTTHUMT00000252413.1	C			75675896	-1	no_errors	ENST00000395743	ensembl	human	known	70_37	missense	SNP	0.932	G	G	75675896	C	G	75675896	3	3	61	1	0	0	0	0	1	0	0	0	1552	912	32	1	229	1	BTC	4	75675896	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2519178	75675896	115478380	91	9434										
PTPN13	5783	genome.wustl.edu	37	chr4	87643569	87643569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	attgccctagaaacagccatGactcaaagaaaactgagggt	9	9	1	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:87643569G>C	ENST00000411767.2	+	10	1653	c.1590G>C	c.(1588-1590)atG>atC	p.M530I	PTPN13_ENST00000436978.1_Missense_Mutation_p.M530I|PTPN13_ENST00000427191.2_Missense_Mutation_p.M530I|PTPN13_ENST00000511467.1_Missense_Mutation_p.M530I|PTPN13_ENST00000316707.6_Missense_Mutation_p.M530I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	530					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.M530I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAACAGCCATGACTCAAAGAA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											110	106	107					4																	87643569		1898	4122	6020	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1590G>C	4.37:g.87643569G>C	ENSP00000407249:p.Met530Ile		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.M530I	ENST00000411767.2	37	c.1590	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324386	0.41197	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.92	4.92	0.64577	.	0.000000	0.56097	D	0.000029	T	0.30324	0.0761	M	0.63428	1.95	0.43569	D	0.995892	B;B;B;B	0.31077	0.04;0.307;0.126;0.2	B;B;B;B	0.25405	0.06;0.047;0.021;0.047	T	0.07908	-1.0748	10	0.38643	T	0.18	.	13.4538	0.61187	0.0:0.0:0.8433:0.1567	.	530;530;530;530	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	I	530;530;530;530;530;498	ENSP00000408368:M530I;ENSP00000394794:M530I;ENSP00000322675:M530I;ENSP00000407249:M530I;ENSP00000426626:M530I	ENSP00000322675:M530I	M	+	3	0	PTPN13	87862593	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.036000	0.57304	2.444000	0.82710	0.655000	0.94253	ATG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.438	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87643569	1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87643569	G	C	87643569	3	2	61	1	0	0	0	0	1	0	0	0	12810	1290	45	1	1624	1	PTPN13	4	87643569	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11967673	87643569	103510707	92	9435										
NHEDC2	133308	genome.wustl.edu	37	chr4	103979062	103979062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttataattccaaataggtttCctccaggaagacattcactg	6	9	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:103979062C>T	ENST00000394785.3	-	4	969	c.338G>A	c.(337-339)gGa>gAa	p.G113E	SLC9B2_ENST00000362026.3_Missense_Mutation_p.G113E|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.G113E|SLC9B2_ENST00000503230.1_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	113					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.G113E(2)									AAATAGGTTTCCTCCAGGAAG	0.383																																																	2	Substitution - Missense(2)	cervix(2)											129	133	131					4																	103979062		2203	4300	6503	SO:0001583	missense	133308			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.338G>A	4.37:g.103979062C>T	ENSP00000378265:p.Gly113Glu		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.G113E	ENST00000394785.3	37	c.338	CCDS3662.1	4	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000462	0.93227	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503818	T;T;T;T	0.35605	1.33;1.41;1.3;1.33	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72261	-0.4345	10	0.87932	D	0	-19.6492	19.1728	0.93585	0.0:1.0:0.0:0.0	.	113	Q86UD5	SL9B2_HUMAN	E	113;13;113;113;113	ENSP00000354574:G113E;ENSP00000421943:G13E;ENSP00000345241:G113E;ENSP00000378265:G113E	ENSP00000345241:G113E	G	-	2	0	SLC9B2	104198511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.587000	0.87381	0.591000	0.81541	GGA	SLC9B2	-	NULL		0.383	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B2	HGNC	protein_coding	OTTHUMT00000253805.1	C	NM_178833		103979062	-1	no_errors	ENST00000362026	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103979062	C	T	103979062	3	4	61	1	0	0	0	0	1	0	0	0	10425	855	30	1	1311	1	NHEDC2	4	103979062	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	16335493	103979062	87175214	93	9436										
ELOVL6	79071	genome.wustl.edu	37	chr4	111119453	111119453	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttctcgttgaactgcttttcGaattcatattcttgtaaagt	6	7	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:111119453G>A	ENST00000394607.3	-	2	202	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Silent_p.F13F			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	13					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.F13F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACTGCTTTTCGAATTCATATT	0.448																																																	1	Substitution - coding silent(1)	cervix(1)											217	189	198					4																	111119453		2203	4300	6503	SO:0001819	synonymous_variant	79071			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.39C>T	4.37:g.111119453G>A			Q4W5L0|Q8NCD1	Silent	SNP	pfam_GNS1_SUR4	p.F13	ENST00000394607.3	37	c.39	CCDS3690.1	4																																																																																			ELOVL6	-	NULL		0.448	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELOVL6	HGNC	protein_coding	OTTHUMT00000255748.1	G	NM_024090		111119453	-1	no_errors	ENST00000394607	ensembl	human	known	70_37	silent	SNP	0.939	A	A	111119453	G	A	111119453	2	1	61	1	0	0	0	0	0	0	0	1	5090	1049	37	1		1	ELOVL6	4	111119453	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	7140391	111119453	80034823	94	9437										
KIAA1109	84162	genome.wustl.edu	37	chr4	123145798	123145798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atggttaattgatgtgcaggCtggaagtcttacagctaagg	13	5	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:123145798C>A	ENST00000264501.4	+	23	3132	c.2759C>A	c.(2758-2760)gCt>gAt	p.A920D	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A920D|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A920D			Q2LD37	K1109_HUMAN	KIAA1109	920					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A920D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGTGCAGGCTGGAAGTCTT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											119	121	120					4																	123145798		1960	4148	6108	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2759C>A	4.37:g.123145798C>A	ENSP00000264501:p.Ala920Asp		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.A920D	ENST00000264501.4	37	c.2759	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785169	0.90282	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.23	5.23	0.72850	.	0.000000	0.43416	U	0.000562	T	0.66147	0.2760	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.916	T	0.67577	-0.5635	10	0.66056	D	0.02	.	19.1724	0.93583	0.0:1.0:0.0:0.0	.	920;920	Q2LD37-5;Q2LD37	.;K1109_HUMAN	D	920;920;920;128	ENSP00000264501:A920D;ENSP00000373390:A920D;ENSP00000389925:A920D;ENSP00000413018:A128D	ENSP00000264501:A920D	A	+	2	0	KIAA1109	123365248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.990000	0.70595	2.613000	0.88420	0.591000	0.81541	GCT	KIAA1109	-	NULL		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123145798	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123145798	C	A	123145798	3	1	61	1	0	0	0	0	1	0	0	0	8228	797	28	4	2841	4	KIAA1109	4	123145798	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	12026345	123145798	68008478	95	9438										
BBS12	166379	genome.wustl.edu	37	chr4	123663127	123663127	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atcattcgcggaaacaggaaGaactttcctaggcccactaa	8	11	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:123663127G>C	ENST00000314218.3	+	2	273	c.80G>C	c.(79-81)aGa>aCa	p.R27T	BBS12_ENST00000542236.1_Missense_Mutation_p.R27T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	27					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.R27T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAAACAGGAAGAACTTTCCTA	0.368									Bardet-Biedl syndrome																																								1	Substitution - Missense(1)	cervix(1)											86	86	86					4																	123663127		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.80G>C	4.37:g.123663127G>C	ENSP00000319062:p.Arg27Thr		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R27T	ENST00000314218.3	37	c.80	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759279	0.69763	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.79454	-1.27;-1.27;-1.27	5.2	5.2	0.72013	.	0.166828	0.44097	D	0.000481	D	0.84999	0.5597	M	0.64997	1.995	0.36993	D	0.894905	D	0.71674	0.998	D	0.69824	0.966	D	0.88206	0.2887	10	0.87932	D	0	-8.7216	12.4813	0.55844	0.0766:0.0:0.9234:0.0	.	27	Q6ZW61	BBS12_HUMAN	T	27	ENSP00000319062:R27T;ENSP00000438273:R27T;ENSP00000398912:R27T	ENSP00000319062:R27T	R	+	2	0	BBS12	123882577	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.303000	0.59098	2.588000	0.87417	0.650000	0.86243	AGA	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	G	NM_152618		123663127	1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123663127	G	C	123663127	3	2	61	1	0	0	0	0	1	0	0	0	1338	942	33	1	82	1	BBS12	4	123663127	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	517329	123663127	67491149	96	9439										
EDNRA	1909	genome.wustl.edu	37	chr4	148407187	148407187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggaatggccccaacgcgctGatagccagtcttgcccttgg	12	13	1	1	rs201702493		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:148407187G>A	ENST00000324300.5	+	2	869	c.354G>A	c.(352-354)ctG>ctA	p.L118L	EDNRA_ENST00000506066.1_Silent_p.L118L|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L118L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCAACGCGCTGATAGCCAGTC	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											113	105	108					4																	148407187		2203	4300	6503	SO:0001819	synonymous_variant	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.354G>A	4.37:g.148407187G>A			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.L118	ENST00000324300.5	37	c.354	CCDS3769.1	4																																																																																			EDNRA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	G			148407187	1	no_errors	ENST00000324300	ensembl	human	known	70_37	silent	SNP	1.000	A	A	148407187	G	A	148407187	2	1	61	1	0	0	0	0	0	0	0	1	4929	1277	45	1		1	EDNRA	4	148407187	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	24744060	148407187	42747089	97	9440										
LRBA	987	genome.wustl.edu	37	chr4	151752977	151752977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atgcaaacttaccagagagtGatacattctcattttcactg	6	9	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:151752977G>A	ENST00000357115.3	-	29	4964	c.4721C>T	c.(4720-4722)tCa>tTa	p.S1574L	LRBA_ENST00000507224.1_Missense_Mutation_p.S1574L|LRBA_ENST00000510413.1_Missense_Mutation_p.S1574L|LRBA_ENST00000535741.1_Missense_Mutation_p.S1574L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1574						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S1574L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACCAGAGAGTGATACATTCTC	0.338																																																	1	Substitution - Missense(1)	cervix(1)											83	78	79					4																	151752977		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4721C>T	4.37:g.151752977G>A	ENSP00000349629:p.Ser1574Leu		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S1574L	ENST00000357115.3	37	c.4721	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.744|9.744	1.165715|1.165715	0.21538|0.21538	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.55930	.|0.91;1.06;0.91;0.49	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|3.801840	.|0.00682	.|U	.|0.000692	T|T	0.56455|0.56455	0.1986|0.1986	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	.|B;B	.|0.31548	.|0.22;0.328	.|B;B	.|0.28011	.|0.039;0.085	T|T	0.56914|0.56914	-0.7900|-0.7900	5|10	.|0.08599	.|T	.|0.76	.|.	14.7918|14.7918	0.69848|0.69848	0.0:0.1434:0.8566:0.0|0.0:0.1434:0.8566:0.0	.|.	.|1574;1574	.|P50851;P50851-2	.|LRBA_HUMAN;.	Y|L	227|1574	.|ENSP00000446299:S1574L;ENSP00000421552:S1574L;ENSP00000349629:S1574L;ENSP00000422180:S1574L	.|ENSP00000349629:S1574L	H|S	-|-	1|2	0|0	LRBA|LRBA	151972427|151972427	0.384000|0.384000	0.25164|0.25164	0.953000|0.953000	0.39169|0.39169	0.211000|0.211000	0.24417|0.24417	3.394000|3.394000	0.52551|0.52551	2.783000|2.783000	0.95769|0.95769	0.542000|0.542000	0.68232|0.68232	CAC|TCA	LRBA	-	NULL		0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151752977	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	missense	SNP	0.023	A	A	151752977	G	A	151752977	3	1	61	1	0	0	0	0	1	0	0	0	8954	1294	45	1	3990	1	LRBA	4	151752977	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3345790	151752977	39401299	98	9441										
DCHS2	54798	genome.wustl.edu	37	chr4	155157687	155157687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aatgtcccttctcatttccaGagatgatgttgtagatgatt	8	7	1	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:155157687G>C	ENST00000357232.4	-	25	6751	c.6752C>G	c.(6751-6753)tCt>tGt	p.S2251C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2251	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2251C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCATTTCCAGAGATGATGTT	0.393																																																	1	Substitution - Missense(1)	cervix(1)											100	104	103					4																	155157687		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6752C>G	4.37:g.155157687G>C	ENSP00000349768:p.Ser2251Cys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S2251C	ENST00000357232.4	37	c.6752	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954637	0.73902	.	.	ENSG00000197410	ENST00000357232	T	0.64260	-0.09	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.086087	0.49916	D	0.000135	D	0.85401	0.5688	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88709	0.3221	10	0.87932	D	0	.	19.7012	0.96054	0.0:0.0:1.0:0.0	.	2251	Q6V1P9	PCD23_HUMAN	C	2251	ENSP00000349768:S2251C	ENSP00000349768:S2251C	S	-	2	0	DCHS2	155377137	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.869000	0.99810	2.637000	0.89404	0.563000	0.77884	TCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155157687	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155157687	G	C	155157687	3	2	61	1	0	0	0	0	1	0	0	0	4293	942	33	1	2002	1	DCHS2	4	155157687	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3404710	155157687	35996589	99	9442										
CTSO	1519	genome.wustl.edu	37	chr4	156850795	156850795	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aatcttgccagctcactgcaTctactatgactaccaaaggg	7	12	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:156850795T>A	ENST00000433477.3	-	6	806	c.737A>T	c.(736-738)gAt>gTt	p.D246V		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	250					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.D246V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GCTCACTGCATCTACTATGAC	0.393																																					Pancreas(148;2303 2598 8989 35298)												1	Substitution - Missense(1)	cervix(1)											114	107	109					4																	156850795		2203	4300	6503	SO:0001583	missense	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.737A>T	4.37:g.156850795T>A	ENSP00000414904:p.Asp246Val		Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.D246V	ENST00000433477.3	37	c.737	CCDS3794.1	4	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690824	0.88735	.	.	ENSG00000256043	ENST00000433477	D	0.88046	-2.33	5.68	5.68	0.88126	Peptidase C1A, papain C-terminal (2);	0.096975	0.64402	D	0.000001	D	0.94440	0.8211	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95351	0.8447	10	0.87932	D	0	.	15.9114	0.79475	0.0:0.0:0.0:1.0	.	246	P43234	CATO_HUMAN	V	246	ENSP00000414904:D246V	ENSP00000281527:D246V	D	-	2	0	CTSO	157070245	1.000000	0.71417	0.948000	0.38648	0.996000	0.88848	7.634000	0.83273	2.163000	0.67991	0.533000	0.62120	GAT	CTSO	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.393	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSO	HGNC	protein_coding	OTTHUMT00000366469.1	T	NM_001334		156850795	-1	no_errors	ENST00000433477	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156850795	T	A	156850795	3	1	61	1	0	0	0	0	1	0	0	0	4045	1435	50	5	240	5	CTSO	4	156850795	Missense_Mutation	SNP	T	TCGA-DS-A0VM-01A-11D-A10S-08	1693108	156850795	34303481	100	9443										
SPATA4	132851	genome.wustl.edu	37	chr4	177113837	177113837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtaaaaggatgaggaactccGctttaagttcattggtcagc	11	7	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:177113837G>A	ENST00000280191.2	-	4	737	c.629C>T	c.(628-630)gCg>gTg	p.A210V	SPATA4_ENST00000515234.1_Missense_Mutation_p.A37V	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	210						cytoplasm (GO:0005737)		p.A210V(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GAGGAACTCCGCTTTAAGTTC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											87	90	89					4																	177113837		2203	4300	6503	SO:0001583	missense	132851			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.629C>T	4.37:g.177113837G>A	ENSP00000280191:p.Ala210Val		Q8NCS5|Q8WW15	Missense_Mutation	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.A210V	ENST00000280191.2	37	c.629	CCDS3826.1	4	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.983672	0.00443	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.20738	2.05	5.51	-1.42	0.08913	.	1.422770	0.04192	N	0.328496	T	0.06462	0.0166	N	0.00926	-1.1	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.35151	-0.9800	10	0.05959	T	0.93	-15.8955	9.2713	0.37673	0.5954:0.0:0.4046:0.0	.	210	Q8NEY3	SPAT4_HUMAN	V	210;37	ENSP00000280191:A210V	ENSP00000280191:A210V	A	-	2	0	SPATA4	177350831	0.006000	0.16342	0.009000	0.14445	0.054000	0.15201	0.170000	0.16663	-0.090000	0.12462	-0.290000	0.09829	GCG	SPATA4	-	pfam_DUF1042		0.378	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	G	NM_144644		177113837	-1	no_errors	ENST00000280191	ensembl	human	known	70_37	missense	SNP	0.004	A	A	177113837	G	A	177113837	3	1	61	1	0	0	0	0	1	0	0	0	15040	1087	38	2	300	2	SPATA4	4	177113837	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	20263042	177113837	14040439	101	9444										
CLDN22	53842	genome.wustl.edu	37	chr4	184240979	184240979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gagacgggaaccagggctgtGactcccgaggcccaggacag	16	12	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:184240979G>A	ENST00000323319.5	-	1	948	c.393C>T	c.(391-393)gtC>gtT	p.V131V	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	131					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.V131V(1)		cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCAGGGCTGTGACTCCCGAGG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											47	48	47					4																	184240979		1568	3582	5150	SO:0001819	synonymous_variant	53842			AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"Claudins"	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.393C>T	4.37:g.184240979G>A				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.V131	ENST00000323319.5	37	c.393	CCDS43286.1	4																																																																																			CLDN22	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin		0.572	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN22	HGNC	protein_coding	OTTHUMT00000361493.1	G			184240979	-1	no_errors	ENST00000323319	ensembl	human	known	70_37	silent	SNP	0.008	A	A	184240979	G	A	184240979	2	1	61	1	0	0	0	0	0	0	0	1	3488	1277	45	1		1	CLDN22	4	184240979	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	7127142	184240979	6913297	102	9445										
ACSL1	2180	genome.wustl.edu	37	chr4	185683650	185683650	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgggtccttcaagtagccctGaaatacatttggccctttca	8	11	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:185683650G>A	ENST00000515030.1	-	17	1874	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*	ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Q517*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Q483*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Q346*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Q517*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Q346*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Q517*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	517					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.Q517*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAGTAGCCCTGAAATACATTT	0.453																																																	1	Substitution - Nonsense(1)	cervix(1)											112	98	103					4																	185683650		2203	4300	6503	SO:0001587	stop_gained	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1549C>T	4.37:g.185683650G>A	ENSP00000422607:p.Gln517*		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q517*	ENST00000515030.1	37	c.1549	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.535744	0.97646	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.64	-0.563	0.11778	.	0.625555	0.17708	N	0.164698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8316	18.0807	0.89440	0.0:0.0:0.3638:0.6362	.	.	.	.	X	346;517;517;483;346;517;517	.	ENSP00000281455:Q517X	Q	-	1	0	ACSL1	185920644	0.972000	0.33761	0.981000	0.43875	0.978000	0.69477	0.114000	0.15520	-0.030000	0.13804	0.655000	0.94253	CAG	ACSL1	-	pfam_AMP-dep_Synth/Lig		0.453	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	G	NM_001995		185683650	-1	no_errors	ENST00000281455	ensembl	human	known	70_37	nonsense	SNP	0.410	A	A	185683650	G	A	185683650	4	1	61	1	0	0	0	0	0	1	0	0	177	1299	45	1	567	1	ACSL1	4	185683650	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1442671	185683650	5470626	103	9446										
CDH10	1008	genome.wustl.edu	37	chr5	24509805	24509805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggaggttcatccacatcttCtatagagattttcactatgg	8	8	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:24509805C>T	ENST00000264463.4	-	7	1633	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	376	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E376K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCACATCTTCTATAGAGATT	0.378										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	cervix(1)											93	94	94					5																	24509805		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1126G>A	5.37:g.24509805C>T	ENSP00000264463:p.Glu376Lys		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E376K	ENST00000264463.4	37	c.1126	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803664	0.90623	.	.	ENSG00000040731	ENST00000264463	T	0.01854	4.6	5.26	4.39	0.52855	Cadherin (3);Cadherin-like (1);	0.099973	0.64402	D	0.000002	T	0.06325	0.0163	M	0.72894	2.215	0.47698	D	0.999493	P	0.45957	0.869	P	0.48400	0.576	T	0.37361	-0.9709	10	0.35671	T	0.21	.	13.3696	0.60705	0.0:0.9235:0.0:0.0765	.	376	Q9Y6N8	CAD10_HUMAN	K	376	ENSP00000264463:E376K	ENSP00000264463:E376K	E	-	1	0	CDH10	24545562	1.000000	0.71417	0.985000	0.45067	0.905000	0.53344	4.519000	0.60517	1.359000	0.45940	0.650000	0.86243	GAA	CDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24509805	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24509805	C	T	24509805	3	4	61	1	0	0	0	0	1	0	0	0	3101	922	32	1	1264	1	CDH10	5	24509805	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		24509805	156405455	104	9447										
PDZD2	23037	genome.wustl.edu	37	chr5	32088583	32088583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agatgagctctcaggagcatGaaactcatgcggacataagc	11	9	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:32088583G>A	ENST00000438447.1	+	20	5417	c.5029G>A	c.(5029-5031)Gaa>Aaa	p.E1677K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1677K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1677					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E1677K(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCAGGAGCATGAAACTCATGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											84	84	84					5																	32088583		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5029G>A	5.37:g.32088583G>A	ENSP00000402033:p.Glu1677Lys		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1677K	ENST00000438447.1	37	c.5029	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630995	0.46944	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06687	3.27;3.27	5.22	-0.593	0.11667	.	1.144360	0.06461	N	0.729511	T	0.05731	0.0150	L	0.46157	1.445	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.40403	-0.9565	10	0.05959	T	0.93	.	0.9191	0.01311	0.1947:0.2761:0.3219:0.2073	.	1677	O15018	PDZD2_HUMAN	K	1677;1478;1677	ENSP00000402033:E1677K;ENSP00000282493:E1677K	ENSP00000282493:E1677K	E	+	1	0	PDZD2	32124340	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.088000	0.11198	-0.032000	0.13758	-0.140000	0.14226	GAA	PDZD2	-	NULL		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32088583	1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.000	A	A	32088583	G	A	32088583	3	1	61	1	0	0	0	0	1	0	0	0	11725	1291	45	1	5103	1	PDZD2	5	32088583	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	7578778	32088583	148826677	105	9448										
UGT3A2	167127	genome.wustl.edu	37	chr5	36038116	36038116	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaacagacggatgcttgggtGagctgttgtaaataagaaag	13	4	0	3	rs542527700		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:36038116G>A	ENST00000282507.3	-	6	1179	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	UGT3A2_ENST00000545528.1_Missense_Mutation_p.H58Y|UGT3A2_ENST00000513300.1_Missense_Mutation_p.H326Y|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	360					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.H360Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGCTTGGGTGAGCTGTTGTA	0.498													G|||	1	0.000199681	0	0	5008	,	,		20522	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											54	57	56					5																	36038116		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1078C>T	5.37:g.36038116G>A	ENSP00000282507:p.His360Tyr		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H360Y	ENST00000282507.3	37	c.1078	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376128	0.42105	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76968	-1.06;-1.06;-0.92	3.64	2.77	0.32553	.	0.068894	0.56097	U	0.000032	D	0.90570	0.7044	H	0.97896	4.1	0.52501	D	0.999951	D;P	0.56287	0.975;0.884	P;P	0.61940	0.896;0.465	D	0.92129	0.5710	10	0.87932	D	0	.	10.8474	0.46751	0.099:0.0:0.901:0.0	.	326;360	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Y	360;326;58	ENSP00000282507:H360Y;ENSP00000427404:H326Y;ENSP00000445367:H58Y	ENSP00000282507:H360Y	H	-	1	0	UGT3A2	36073873	1.000000	0.71417	0.457000	0.27056	0.664000	0.39144	5.276000	0.65580	1.113000	0.41760	0.563000	0.77884	CAC	UGT3A2	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.498	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	G	NM_174914		36038116	-1	no_errors	ENST00000282507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36038116	G	A	36038116	3	1	61	1	0	0	0	0	1	0	0	0	16995	1290	45	1	501	1	UGT3A2	5	36038116	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3949533	36038116	144877144	106	9449										
MRPS30	10884	genome.wustl.edu	37	chr5	44813303	44813303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggcttttgagacaaaactgtGctgatcagatagaagttgtt	11	5	1	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:44813303G>A	ENST00000507110.1	+	4	987	c.949G>A	c.(949-951)Gct>Act	p.A317T		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	317					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A317T(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ACAAAACTGTGCTGATCAGAT	0.383																																																	2	Substitution - Missense(2)	cervix(2)											94	93	93					5																	44813303		2203	4300	6503	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.949G>A	5.37:g.44813303G>A	ENSP00000424328:p.Ala317Thr		Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.A317T	ENST00000507110.1	37	c.949	CCDS3951.1	5	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918472	0.52546	.	.	ENSG00000112996	ENST00000507110	T	0.17854	2.25	5.78	5.78	0.91487	.	0.162190	0.56097	D	0.000035	T	0.28499	0.0705	L	0.55481	1.735	0.44380	D	0.99728	P	0.47253	0.892	P	0.51055	0.657	T	0.01087	-1.1456	10	0.11182	T	0.66	-11.9547	20.3668	0.98882	0.0:0.0:1.0:0.0	.	317	Q9NP92	RT30_HUMAN	T	317	ENSP00000424328:A317T	ENSP00000424328:A317T	A	+	1	0	MRPS30	44849060	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.454000	0.52986	2.894000	0.99253	0.655000	0.94253	GCT	MRPS30	-	pfam_Ribosomal_L37/S30		0.383	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	HGNC	protein_coding	OTTHUMT00000214033.2	G	NM_016640		44813303	1	no_errors	ENST00000507110	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44813303	G	A	44813303	3	1	61	1	0	0	0	0	1	0	0	0	9863	1319	46	4	963	4	MRPS30	5	44813303	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8775187	44813303	136101957	107	9450										
CMYA5	202333	genome.wustl.edu	37	chr5	79025923	79025923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gcgtcaccaggtctggcagcAtctacccaggatggtttgga	13	11	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:79025923A>G	ENST00000446378.2	+	2	1366	c.1335A>G	c.(1333-1335)gcA>gcG	p.A445A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	445				A -> V (in Ref. 2; CAH10406). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A445A(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCTGGCAGCATCTACCCAGG	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											83	84	84					5																	79025923		2203	4300	6503	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1335A>G	5.37:g.79025923A>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A445	ENST00000446378.2	37	c.1335	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.507	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	A	NM_153610		79025923	1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.000	G	G	79025923	A	G	79025923	2	3	61	1	0	0	0	0	0	0	0	1	3595	204	8	5		5	CMYA5	5	79025923	Silent	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08	34212620	79025923	101889337	108	9451										
RASA1	5921	genome.wustl.edu	37	chr5	86564633	86564633	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tctcaccaaactgcccacttCgttgcttgctgagactctcg	7	15	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:86564633C>A	ENST00000274376.6	+	1	929	c.365C>A	c.(364-366)tCg>tAg	p.S122*	RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000512763.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	122					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.S122*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCACTTCGTTGCTTGCT	0.657																																																	1	Substitution - Nonsense(1)	cervix(1)											48	41	43					5																	86564633		2203	4300	6503	SO:0001587	stop_gained	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.365C>A	5.37:g.86564633C>A	ENSP00000274376:p.Ser122*		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.S122*	ENST00000274376.6	37	c.365	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.811831	0.98962	.	.	ENSG00000145715	ENST00000274376;ENST00000534133	.	.	.	3.79	2.91	0.33838	.	1.163050	0.06618	N	0.756847	.	.	.	.	.	.	0.34332	D	0.687829	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1402	0.42730	0.0:0.8996:0.0:0.1004	.	.	.	.	X	122;155	.	ENSP00000274376:S122X	S	+	2	0	RASA1	86600389	0.004000	0.15560	0.144000	0.22314	0.618000	0.37518	0.825000	0.27393	0.921000	0.36994	0.561000	0.74099	TCG	RASA1	-	NULL		0.657	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86564633	1	no_errors	ENST00000274376	ensembl	human	known	70_37	nonsense	SNP	0.126	A	A	86564633	C	A	86564633	4	1	61	1	0	0	0	0	0	1	0	0	13090	893	31	3	367	3	RASA1	5	86564633	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7538710	86564633	94350627	109	9452										
GABRG2	2566	genome.wustl.edu	37	chr5	161520913	161520913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcttgactccaaaagttcctGagggtgatgtcactgtcatc	9	10	3	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:161520913G>A	ENST00000361925.4	+	2	407	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GABRG2_ENST00000356592.3_Missense_Mutation_p.E63K|GABRG2_ENST00000414552.2_Missense_Mutation_p.E63K|GABRG2_ENST00000393933.4_5'UTR			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	63					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E63K(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAAGTTCCTGAGGGTGATGT	0.388																																																	1	Substitution - Missense(1)	cervix(1)											149	145	147					5																	161520913		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.187G>A	5.37:g.161520913G>A	ENSP00000354651:p.Glu63Lys		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E63K	ENST00000361925.4	37	c.187	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491122	0.84962	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.80393	-1.37;-0.86;-1.37	5.82	5.82	0.92795	.	0.048448	0.85682	D	0.000000	T	0.81823	0.4904	L	0.49778	1.585	0.80722	D	1	P;B;B	0.44946	0.846;0.311;0.438	P;B;B	0.46419	0.516;0.097;0.381	T	0.79480	-0.1786	10	0.34782	T	0.22	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	63;63;63	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	63	ENSP00000349000:E63K;ENSP00000410732:E63K;ENSP00000354651:E63K	ENSP00000349000:E63K	E	+	1	0	GABRG2	161453491	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.521000	0.81832	2.756000	0.94617	0.563000	0.77884	GAG	GABRG2	-	prints_GABBAg_rcpt		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	G			161520913	1	no_errors	ENST00000356592	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161520913	G	A	161520913	3	1	61	1	0	0	0	0	1	0	0	0	6190	1291	45	1	193	1	GABRG2	5	161520913	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	74956280	161520913	19394347	110	9453										
STK10	6793	genome.wustl.edu	37	chr5	171481675	171481675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgcagccgctccgacttctgCctcttctcctcctgctggga	9	17	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:171481675C>A	ENST00000176763.5	-	17	2893	c.2550G>T	c.(2548-2550)agG>agT	p.R850S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	850	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R850S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGACTTCTGCCTCTTCTCCT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											136	128	131					5																	171481675		2203	4300	6503	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2550G>T	5.37:g.171481675C>A	ENSP00000176763:p.Arg850Ser		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,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.R850S	ENST00000176763.5	37	c.2550	CCDS34290.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.10|19.10	3.762534|3.762534	0.69763|0.69763	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000520476|ENST00000176763;ENST00000545839	.|T	.|0.34072	.|1.38	4.86|4.86	1.58|1.58	0.23477|0.23477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57695|0.57695	0.2071|0.2071	M|M	0.87456|0.87456	2.885|2.885	0.51767|0.51767	D|D	0.999935|0.999935	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.57539|0.57539	-0.7794|-0.7794	5|10	.|0.87932	.|D	.|0	.|.	5.6586|5.6586	0.17656|0.17656	0.0:0.5325:0.0:0.4675|0.0:0.5325:0.0:0.4675	.|.	.|850	.|O94804	.|STK10_HUMAN	V|S	123|850	.|ENSP00000176763:R850S	.|ENSP00000176763:R850S	G|R	-|-	2|3	0|2	STK10|STK10	171414280|171414280	0.702000|0.702000	0.27816|0.27816	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	-0.128000|-0.128000	0.10531|0.10531	0.578000|0.578000	0.29487|0.29487	0.561000|0.561000	0.74099|0.74099	GGC|AGG	STK10	-	pfam_PKK		0.637	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	C	NM_005990		171481675	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	missense	SNP	1.000	A	A	171481675	C	A	171481675	3	1	61	1	0	0	0	0	1	0	0	0	15316	738	26	4	368	4	STK10	5	171481675	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	9960762	171481675	9433585	111	9454										
HNRNPH1	3187	genome.wustl.edu	37	chr5	179050119	179050119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cacgaatccctctccaccttCcgtgcccaacatcatcgtct	4	19	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:179050119C>T	ENST00000356731.5	-	1	1551	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.E6K|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.E6K|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.E6K|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.E6K|HNRNPH1_ENST00000524180.1_5'UTR			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.E6K(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTCCACCTTCCGTGCCCAAC	0.562																																																	3	Substitution - Missense(3)	cervix(3)											83	67	72					5																	179050119		2203	4300	6503	SO:0001583	missense	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.16G>A	5.37:g.179050119C>T	ENSP00000349168:p.Glu6Lys		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.E6K	ENST00000356731.5	37	c.16	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650658	0.67472	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;2.3;1.56;1.56;1.56;1.56;1.56	3.58	3.58	0.41010	.	0.272625	0.41605	D	0.000850	T	0.35451	0.0932	M	0.71036	2.16	0.80722	D	1	B	0.15473	0.013	B	0.20577	0.03	T	0.34576	-0.9823	10	0.46703	T	0.11	-4.8401	15.1215	0.72447	0.0:1.0:0.0:0.0	.	6	P31943	HNRH1_HUMAN	K	6	ENSP00000377082:E6K;ENSP00000397797:E6K;ENSP00000349168:E6K;ENSP00000327539:E6K;ENSP00000426275:E6K;ENSP00000427408:E6K;ENSP00000425732:E6K;ENSP00000420850:E6K;ENSP00000427986:E6K;ENSP00000424087:E6K;ENSP00000423140:E6K;ENSP00000430970:E6K;ENSP00000427388:E6K;ENSP00000426518:E6K;ENSP00000421695:E6K;ENSP00000429661:E6K;ENSP00000425343:E6K;ENSP00000426726:E6K	ENSP00000327539:E6K	E	-	1	0	HNRNPH1	178982725	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	4.786000	0.62425	1.699000	0.51192	0.491000	0.48974	GAA	HNRNPH1	-	NULL		0.562	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	C	NM_005520		179050119	-1	no_errors	ENST00000356731	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179050119	C	T	179050119	3	4	61	1	0	0	0	0	1	0	0	0	7286	864	30	1	1381	1	HNRNPH1	5	179050119	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7568444	179050119	1865141	112	9455										
MAML1	9794	genome.wustl.edu	37	chr5	179201031	179201031	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcctctctccccacaaactCaggccaacaggaccggggtg	9	16	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:179201031C>G	ENST00000292599.3	+	5	2467	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.S735*(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCACAAACTCAGGCCAACAG	0.572																																																	1	Substitution - Nonsense(1)	cervix(1)											62	62	62					5																	179201031		2203	4300	6503	SO:0001587	stop_gained	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2204C>G	5.37:g.179201031C>G	ENSP00000292599:p.Ser735*			Nonsense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S735*	ENST00000292599.3	37	c.2204	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.267829	0.95399	.	.	ENSG00000161021	ENST00000292599	.	.	.	5.1	4.2	0.49525	.	0.279688	0.30649	N	0.009165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.6198	11.0154	0.47685	0.1455:0.7143:0.1403:0.0	.	.	.	.	X	735	.	ENSP00000292599:S735X	S	+	2	0	MAML1	179133637	0.834000	0.29399	0.443000	0.26883	0.123000	0.20343	2.761000	0.47589	1.082000	0.41137	0.462000	0.41574	TCA	MAML1	-	NULL		0.572	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179201031	1	no_errors	ENST00000292599	ensembl	human	known	70_37	nonsense	SNP	0.250	G	G	179201031	C	G	179201031	4	3	61	1	0	0	0	0	0	1	0	0	9228	838	29	1	2222	1	MAML1	5	179201031	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	150912	179201031	1714229	113	9456										
MAML1	9794	genome.wustl.edu	37	chr5	179201368	179201368	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	catcagggaatgccgaacctCagtggccagaccccagggaa	12	13	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:179201368C>T	ENST00000292599.3	+	5	2804	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.L847L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCGAACCTCAGTGGCCAGA	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											49	47	47					5																	179201368		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2541C>T	5.37:g.179201368C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.L847	ENST00000292599.3	37	c.2541	CCDS34315.1	5																																																																																			MAML1	-	NULL		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179201368	1	no_errors	ENST00000292599	ensembl	human	known	70_37	silent	SNP	0.980	T	T	179201368	C	T	179201368	2	4	61	1	0	0	0	0	0	0	0	1	9228	813	29	1		1	MAML1	5	179201368	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	337	179201368	1713892	114	9457										
GCM2	9247	genome.wustl.edu	37	chr6	10876766	10876766	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaggaatcaactccaaagcaGaatgacagttagggcatgcc	10	9	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:10876766G>T	ENST00000379491.4	-	3	515	c.368C>A	c.(367-369)tCt>tAt	p.S123Y	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	123					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S123Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTCCAAAGCAGAATGACAGTT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											95	81	86					6																	10876766		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.368C>A	6.37:g.10876766G>T	ENSP00000368805:p.Ser123Tyr		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.S123Y	ENST00000379491.4	37	c.368	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867922	0.91587	.	.	ENSG00000124827	ENST00000379491	T	0.74421	-0.84	5.69	5.69	0.88448	.	0.163919	0.56097	D	0.000032	T	0.78572	0.4304	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.80226	-0.1470	10	0.72032	D	0.01	-9.756	19.8215	0.96599	0.0:0.0:1.0:0.0	.	123	O75603	GCM2_HUMAN	Y	123	ENSP00000368805:S123Y	ENSP00000368805:S123Y	S	-	2	0	GCM2	10984752	1.000000	0.71417	0.043000	0.18650	0.968000	0.65278	7.627000	0.83176	2.679000	0.91253	0.650000	0.86243	TCT	GCM2	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.507	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	G			10876766	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	0.993	T	T	10876766	G	T	10876766	3	4	61	1	0	0	0	0	1	0	0	0	6317	942	33	3	1164	3	GCM2	6	10876766	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08		10876766	160238301	115	9458										
OR2B2	81697	genome.wustl.edu	37	chr6	27879219	27879219	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gcttcctttacctctttgttCctaagtgtatatataagggg	8	8	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:27879219C>G	ENST00000303324.2	-	1	955	c.879G>C	c.(877-879)agG>agC	p.R293S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293S(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCTCTTTGTTCCTAAGTGTAT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											74	74	74					6																	27879219		2203	4300	6503	SO:0001583	missense	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.879G>C	6.37:g.27879219C>G	ENSP00000304419:p.Arg293Ser		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R293S	ENST00000303324.2	37	c.879	CCDS4641.1	6	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436252	0.43224	.	.	ENSG00000168131	ENST00000303324	T	0.39592	1.07	4.16	-3.48	0.04739	.	0.000000	0.42682	U	0.000671	T	0.41627	0.1167	M	0.65498	2.005	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.49390	-0.8945	10	0.87932	D	0	.	10.6845	0.45835	0.0:0.5086:0.0:0.4914	.	293	Q9GZK3	OR2B2_HUMAN	S	293	ENSP00000304419:R293S	ENSP00000304419:R293S	R	-	3	2	OR2B2	27987198	0.006000	0.16342	0.871000	0.34182	0.714000	0.41099	-1.526000	0.02229	-0.619000	0.05648	0.313000	0.20887	AGG	OR2B2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.403	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B2	HGNC	protein_coding	OTTHUMT00000040163.1	C			27879219	-1	no_errors	ENST00000303324	ensembl	human	known	70_37	missense	SNP	0.178	G	G	27879219	C	G	27879219	3	3	61	1	0	0	0	0	1	0	0	0	11013	854	30	1	198	1	OR2B2	6	27879219	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	17002453	27879219	143235848	116	9459										
HLA-F	3134	genome.wustl.edu	37	chr6	29691698	29691698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tccgccgctacaaccagagcGaggctggtgagtgaacccgg	14	13	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:29691698G>A	ENST00000376861.1	+	3	712	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HLA-F_ENST00000434407.2_Missense_Mutation_p.E110K|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_Missense_Mutation_p.E110K|HLA-F_ENST00000334668.4_Missense_Mutation_p.E110K			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	110	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.E110K(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAACCAGAGCGAGGCTGGTGA	0.677																																																	2	Substitution - Missense(2)	cervix(2)											10	11	11					6																	29691698		1491	2698	4189	SO:0001583	missense	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.328G>A	6.37:g.29691698G>A	ENSP00000366057:p.Glu110Lys		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E110K	ENST00000376861.1	37	c.328	CCDS43438.1	6	.	.	.	.	.	.	.	.	.	.	.	17.59	3.428614	0.62844	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000434407	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	1.63	0.44	0.16572	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01254	0.0041	M	0.64630	1.985	0.80722	D	1	D;D;P;P	0.54964	0.969;0.962;0.953;0.953	P;P;P;P	0.61940	0.616;0.745;0.628;0.896	T	0.63786	-0.6558	9	0.66056	D	0.02	.	5.0562	0.14533	0.0:0.3839:0.6161:0.0	.	110;110;110;110	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	K	110;110;87;110;110;110	ENSP00000366057:E110K;ENSP00000389590:E110K;ENSP00000334263:E110K;ENSP00000259951:E110K;ENSP00000397376:E110K	ENSP00000259951:E110K	E	+	1	0	HLA-F	29799677	0.003000	0.15002	0.877000	0.34402	0.130000	0.20726	-0.490000	0.06482	0.871000	0.35750	0.436000	0.28706	GAG	HLA-F	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.677	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	G	NM_018950		29691698	1	no_errors	ENST00000259951	ensembl	human	known	70_37	missense	SNP	0.933	A	A	29691698	G	A	29691698	3	1	61	1	0	0	0	0	1	0	0	0	7231	1059	37	1	334	1	HLA-F	6	29691698	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1812479	29691698	141423369	117	9460										
C6orf26	401251	genome.wustl.edu	37	chr6	31732268	31732268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaaggaggagatggctcagcGgggctgcaccaaggggccaa	17	9	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:31732268G>A	ENST00000425424.1	+	4	466	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	VWA7_ENST00000467576.1_5'Flank|SAPCD1_ENST00000415669.2_Missense_Mutation_p.R166Q|MSH5-SAPCD1_ENST00000493662.2_3'UTR|MSH5_ENST00000534153.4_3'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	136								p.R166Q(1)									ATGGCTCAGCGGGGCTGCACC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											45	50	48					6																	31732268		2203	4300	6503	SO:0001583	missense	401251				CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 26"	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.407G>A	6.37:g.31732268G>A	ENSP00000413372:p.Arg136Gln		A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	pfam_APC_dom	p.R166Q	ENST00000425424.1	37	c.497		6	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692962	0.15039	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	T;T	0.31510	1.49;1.57	4.69	-4.54	0.03452	.	.	.	.	.	T	0.03695	0.0105	.	.	.	0.09310	N	1	B	0.23058	0.079	B	0.18263	0.021	T	0.37731	-0.9693	8	0.22109	T	0.4	.	1.8609	0.03188	0.1199:0.1956:0.2525:0.432	.	166	Q5SSQ6-2	.	Q	135;166;136	ENSP00000411948:R166Q;ENSP00000413372:R136Q	ENSP00000411948:R166Q	R	+	2	0	C6orf26	31840247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.953000	0.00676	-0.899000	0.03901	-1.971000	0.00464	CGG	SAPCD1	-	NULL		0.597	SAPCD1-203	KNOWN	basic	protein_coding	SAPCD1	HGNC	protein_coding		G	NM_001039651		31732268	1	no_errors	ENST00000415669	ensembl	human	known	70_37	missense	SNP	0.000	A	A	31732268	G	A	31732268	3	1	61	1	0	0	0	0	1	0	0	0	2366	1116	39	2	515	2	C6orf26	6	31732268	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2040570	31732268	139382799	118	9461										
CYP21A2	1589	genome.wustl.edu	37	chr6	32007219	32007219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atcatctgttacctcaccttCggagacaagatcaaggtgcc	8	12	4	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:32007219C>T	ENST00000418967.2	+	4	692	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CYP21A2_ENST00000435122.2_Silent_p.F148F	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	177			G -> A (in AH3; dbSNP:rs72552751). {ECO:0000269|PubMed:10364682}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.F178F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	ACCTCACCTTCGGAGACAAGA	0.587																																					Melanoma(174;1669 1998 3915 34700 46447)												1	Substitution - coding silent(1)	cervix(1)											53	47	49					6																	32007219		2202	4298	6500	SO:0001819	synonymous_variant	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.534C>T	6.37:g.32007219C>T			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F178	ENST00000418967.2	37	c.534	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.587	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	C	NM_000500		32007219	1	no_errors	ENST00000418967	ensembl	human	known	70_37	silent	SNP	0.963	T	T	32007219	C	T	32007219	2	4	61	1	0	0	0	0	0	0	0	1	4158	883	31	1		1	CYP21A2	6	32007219	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	274951	32007219	139107848	119	9462										
BMP5	653	genome.wustl.edu	37	chr6	55625297	55625297	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctcacatagagttcgtgcttCttacaggcttgtttttgctc	8	10	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:55625297C>T	ENST00000370830.3	-	5	1760	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	BMP5_ENST00000446683.2_Silent_p.K354K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	354					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.K354K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCGTGCTTCTTACAGGCTT	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											121	110	114					6																	55625297		2203	4300	6503	SO:0001819	synonymous_variant	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1062G>A	6.37:g.55625297C>T			B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.K354	ENST00000370830.3	37	c.1062	CCDS4958.1	6																																																																																			BMP5	-	pfam_TGF-b_C,smart_TGF-b_C		0.353	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	C			55625297	-1	no_errors	ENST00000370830	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55625297	C	T	55625297	2	4	61	1	0	0	0	0	0	0	0	1	1464	912	32	1		1	BMP5	6	55625297	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	23618078	55625297	115489770	120	9463										
DST	667	genome.wustl.edu	37	chr6	56506864	56506864	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccagcaatttctgcttcattCtgaaactgcactcctgattc	5	13	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:56506864C>T	ENST00000361203.3	-	13	1282	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	DST_ENST00000446842.2_Silent_p.Q99Q|DST_ENST00000312431.6_Silent_p.Q425Q|DST_ENST00000421834.2_Silent_p.Q425Q|DST_ENST00000370769.4_Silent_p.Q425Q|DST_ENST00000518935.1_Silent_p.Q99Q|DST_ENST00000370788.2_Silent_p.Q425Q|DST_ENST00000370754.5_Silent_p.Q603Q|DST_ENST00000370765.6_Silent_p.Q99Q|DST_ENST00000244364.6_Silent_p.Q99Q			Q03001	DYST_HUMAN	dystonin	425					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q99Q(3)|p.Q425Q(1)|p.Q603Q(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTCATTCTGAAACTGCA	0.323																																																	5	Substitution - coding silent(5)	cervix(5)											94	88	90					6																	56506864		2203	4299	6502	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1275G>A	6.37:g.56506864C>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q603	ENST00000361203.3	37	c.1809		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56506864	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56506864	C	T	56506864	2	4	61	1	0	0	0	0	0	0	0	1	4793	912	32	1		1	DST	6	56506864	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	881567	56506864	114608203	121	9464										
SENP6	26054	genome.wustl.edu	37	chr6	76380320	76380320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aacgtcgtaaagtgttttctCaagaacctccagatgcttta	7	9	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:76380320C>G	ENST00000447266.2	+	11	1754	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	SENP6_ENST00000370010.2_Missense_Mutation_p.Q419E|SENP6_ENST00000327284.8_Missense_Mutation_p.Q419E|SENP6_ENST00000370014.3_Missense_Mutation_p.Q426E|SENP6_ENST00000541192.1_Missense_Mutation_p.Q22E	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	426					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.Q426E(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGTTTTCTCAAGAACCTCC	0.358																																																	2	Substitution - Missense(2)	cervix(2)											118	104	108					6																	76380320		1817	4080	5897	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1276C>G	6.37:g.76380320C>G	ENSP00000402527:p.Gln426Glu		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q426E	ENST00000447266.2	37	c.1276	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	C	7.010	0.556519	0.13436	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.30981	2.71;2.73;1.52;2.73;1.52;1.51	5.64	5.64	0.86602	.	0.481828	0.23614	N	0.046316	T	0.14527	0.0351	L	0.54323	1.7	0.26640	N	0.972304	P;B;B	0.34800	0.469;0.339;0.288	B;B;B	0.30572	0.117;0.08;0.086	T	0.37103	-0.9720	10	0.09338	T	0.73	-5.4078	19.7186	0.96134	0.0:1.0:0.0:0.0	.	419;426;419	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	E	419;426;275;419;426;316;22	ENSP00000359027:Q419E;ENSP00000359031:Q426E;ENSP00000321820:Q419E;ENSP00000402527:Q426E;ENSP00000391426:Q316E;ENSP00000441715:Q22E	ENSP00000321820:Q419E	Q	+	1	0	SENP6	76437040	1.000000	0.71417	0.995000	0.50966	0.194000	0.23727	5.359000	0.66074	2.659000	0.90383	0.655000	0.94253	CAA	SENP6	-	NULL		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	C	NM_015571		76380320	1	no_errors	ENST00000370014	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76380320	C	G	76380320	3	3	61	1	0	0	0	0	1	0	0	0	14080	827	29	1	1318	1	SENP6	6	76380320	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	19873456	76380320	94734747	122	9465										
IMPG1	3617	genome.wustl.edu	37	chr6	76660509	76660509	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcgctgagctctggtacctCagatggggcaggagtgtcag	15	9	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:76660509C>T	ENST00000369950.3	-	13	1783	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.E532K(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTGGTACCTCAGATGGGGCA	0.478																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	cervix(1)											89	73	78					6																	76660509		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1594G>A	6.37:g.76660509C>T	ENSP00000358966:p.Glu532Lys			Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E532K	ENST00000369950.3	37	c.1594	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412850	0.42817	.	.	ENSG00000112706	ENST00000369950	T	0.21734	1.99	5.67	4.79	0.61399	.	0.281339	0.30302	N	0.009940	T	0.10594	0.0259	L	0.58101	1.795	0.23101	N	0.998291	P	0.40144	0.704	B	0.35971	0.215	T	0.04991	-1.0913	10	0.39692	T	0.17	.	15.0943	0.72220	0.0:0.859:0.141:0.0	.	532	Q17R60	IMPG1_HUMAN	K	532	ENSP00000358966:E532K	ENSP00000358966:E532K	E	-	1	0	IMPG1	76717229	0.028000	0.19301	0.004000	0.12327	0.003000	0.03518	1.437000	0.34991	1.371000	0.46172	0.650000	0.86243	GAG	IMPG1	-	NULL		0.478	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	C	NM_001563		76660509	-1	no_errors	ENST00000369950	ensembl	human	known	70_37	missense	SNP	0.005	T	T	76660509	C	T	76660509	3	4	61	1	0	0	0	0	1	0	0	0	7748	835	29	1	819	1	IMPG1	6	76660509	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	280189	76660509	94454558	123	9466										
ELOVL4	6785	genome.wustl.edu	37	chr6	80656984	80656984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gacactacccggctccgagtCcaggagccccatcgcggcga	12	17	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:80656984C>T	ENST00000369816.4	-	1	313	c.13G>A	c.(13-15)Gac>Aac	p.D5N		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	5					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.D5N(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GGCTCCGAGTCCAGGAGCCCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											57	48	51					6																	80656984		2203	4299	6502	SO:0001583	missense	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.13G>A	6.37:g.80656984C>T	ENSP00000358831:p.Asp5Asn		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.D5N	ENST00000369816.4	37	c.13	CCDS4992.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190889	0.58017	.	.	ENSG00000118402	ENST00000369816	T	0.17854	2.25	4.11	4.11	0.48088	.	0.286191	0.29459	N	0.012087	T	0.10380	0.0254	N	0.08118	0	0.31800	N	0.628516	D	0.63880	0.993	D	0.68192	0.956	T	0.11251	-1.0595	10	0.36615	T	0.2	-12.6079	11.7008	0.51569	0.0:1.0:0.0:0.0	.	5	Q9GZR5	ELOV4_HUMAN	N	5	ENSP00000358831:D5N	ENSP00000358831:D5N	D	-	1	0	ELOVL4	80713703	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.248000	0.43160	2.116000	0.64780	0.462000	0.41574	GAC	ELOVL4	-	NULL		0.667	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	C			80656984	-1	no_errors	ENST00000369816	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80656984	C	T	80656984	3	4	61	1	0	0	0	0	1	0	0	0	5088	855	30	1	955	1	ELOVL4	6	80656984	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3996475	80656984	90458083	124	9467										
MDN1	23195	genome.wustl.edu	37	chr6	90484342	90484342	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtttagagccctacttacctCtgtaggtgaacagcctcact	8	12	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:90484342C>G	ENST00000369393.3	-	13	2047	c.1932G>C	c.(1930-1932)caG>caC	p.Q644H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q644H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	644					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q644H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTACTTACCTCTGTAGGTGAA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											143	128	133					6																	90484342		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1932G>C	6.37:g.90484342C>G	ENSP00000358400:p.Gln644His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.Q644H	ENST00000369393.3	37	c.1932	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	5.916	0.352996	0.11182	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18657	3.95;3.95;2.2	5.39	3.51	0.40186	.	0.304459	0.30920	N	0.008606	T	0.03915	0.0110	N	0.12182	0.205	0.30441	N	0.776162	B;B	0.19817	0.002;0.039	B;B	0.20384	0.004;0.029	T	0.26121	-1.0112	10	0.42905	T	0.14	.	5.2472	0.15502	0.0:0.472:0.3789:0.1491	.	571;644	Q5T795;Q9NU22	.;MDN1_HUMAN	H	644;644;571	ENSP00000358400:Q644H;ENSP00000413970:Q644H;ENSP00000409664:Q571H	ENSP00000358400:Q644H	Q	-	3	2	MDN1	90541063	1.000000	0.71417	0.999000	0.59377	0.172000	0.22775	0.848000	0.27710	2.528000	0.85240	0.655000	0.94253	CAG	MDN1	-	pirsf_Midasin		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90484342	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.997	G	G	90484342	C	G	90484342	3	3	61	1	0	0	0	0	1	0	0	0	9438	912	32	1	15218	1	MDN1	6	90484342	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	9827358	90484342	80630725	125	9468										
NKAIN2	154215	genome.wustl.edu	37	chr6	124979388	124979388	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caccgatcttggtggatggaGaatggaccaggatgtacggt	15	7	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:124979388G>A	ENST00000368417.1	+	4	390	c.330G>A	c.(328-330)gaG>gaA	p.E110E	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Silent_p.E110E|NKAIN2_ENST00000545433.1_Silent_p.E95E	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E110E(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GGTGGATGGAGAATGGACCAG	0.473																																																	1	Substitution - coding silent(1)	cervix(1)											144	133	137					6																	124979388		2203	4300	6503	SO:0001819	synonymous_variant	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.330G>A	6.37:g.124979388G>A			Q8IYR4|Q8TF67	Silent	SNP	pfam_Na/K-Atpase_Interacting	p.E110	ENST00000368417.1	37	c.330	CCDS34526.1	6																																																																																			NKAIN2	-	pfam_Na/K-Atpase_Interacting		0.473	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	G	NM_001040214		124979388	1	no_errors	ENST00000368417	ensembl	human	known	70_37	silent	SNP	1.000	A	A	124979388	G	A	124979388	2	1	61	1	0	0	0	0	0	0	0	1	10460	933	33	1		1	NKAIN2	6	124979388	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	34495046	124979388	46135679	126	9469										
PTPRK	5796	genome.wustl.edu	37	chr6	128643434	128643434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctccagggtcgtgatctgaaGagtccactatcatataggaa	10	9	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:128643434G>C	ENST00000368215.3	-	3	244	c.245C>G	c.(244-246)tCt>tGt	p.S82C	PTPRK_ENST00000525459.1_Missense_Mutation_p.S82C|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.S82C|PTPRK_ENST00000368207.3_Missense_Mutation_p.S82C|PTPRK_ENST00000368210.3_Missense_Mutation_p.S82C|PTPRK_ENST00000532331.1_Missense_Mutation_p.S82C|PTPRK_ENST00000368226.4_Missense_Mutation_p.S82C|PTPRK_ENST00000368227.3_Missense_Mutation_p.S82C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	82	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S82C(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTGATCTGAAGAGTCCACTAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											115	114	115					6																	128643434		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.245C>G	6.37:g.128643434G>C	ENSP00000357198:p.Ser82Cys		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S82C	ENST00000368215.3	37	c.245		6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366376	0.82463	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.349553	0.27509	N	0.019054	T	0.13415	0.0325	M	0.85630	2.765	0.35070	D	0.762419	P;D;D;D;P;P	0.89917	0.938;0.996;0.996;1.0;0.728;0.681	P;D;P;D;P;P	0.72982	0.753;0.928;0.882;0.979;0.674;0.545	T	0.00480	-1.1714	10	0.87932	D	0	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	82;82;82;82;82;82	B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	C	82	ENSP00000357209:S82C;ENSP00000357210:S82C;ENSP00000432973:S82C;ENSP00000357196:S82C;ENSP00000357193:S82C;ENSP00000357198:S82C;ENSP00000357190:S82C;ENSP00000434116:S82C	ENSP00000357190:S82C	S	-	2	0	PTPRK	128685127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.732000	0.62029	2.880000	0.98712	0.650000	0.86243	TCT	PTPRK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.363	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	G			128643434	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128643434	G	C	128643434	3	2	61	1	0	0	0	0	1	0	0	0	12835	942	33	1	4211	1	PTPRK	6	128643434	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3664046	128643434	42471633	127	9470										
ENPP3	5169	genome.wustl.edu	37	chr6	132067987	132067987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agctcacattgcccgggtccGtgatgtagaacttctcactg	10	12	2	2	rs201810317		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:132067987G>A	ENST00000414305.1	+	26	2847	c.2519G>A	c.(2518-2520)cGt>cAt	p.R840H	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R840H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	840	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R840H(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCCCGGGTCCGTGATGTAGAA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											87	89	88					6																	132067987		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2519G>A	6.37:g.132067987G>A	ENSP00000406261:p.Arg840His		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.R840H	ENST00000414305.1	37	c.2519	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422422	0.62622	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.70516	-0.49;-0.49	5.63	5.63	0.86233	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.092421	0.44483	D	0.000457	D	0.83880	0.5350	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84838	0.0806	10	0.87932	D	0	-8.3481	20.0529	0.97634	0.0:0.0:1.0:0.0	.	840	O14638	ENPP3_HUMAN	H	840	ENSP00000406261:R840H;ENSP00000350265:R840H	ENSP00000350265:R840H	R	+	2	0	ENPP3	132109680	0.996000	0.38824	0.708000	0.30435	0.067000	0.16453	6.061000	0.71148	2.814000	0.96858	0.591000	0.81541	CGT	ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.403	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	G			132067987	1	no_errors	ENST00000357639	ensembl	human	known	70_37	missense	SNP	0.979	A	A	132067987	G	A	132067987	3	1	61	1	0	0	0	0	1	0	0	0	5143	1145	40	2	2617	2	ENPP3	6	132067987	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3424553	132067987	39047080	128	9471										
TCF21	6943	genome.wustl.edu	37	chr6	134210908	134210908	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tggacacgctcaggctggcgTccagctacatcgcccacttg	11	15	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:134210908T>A	ENST00000367882.4	+	1	633	c.373T>A	c.(373-375)Tcc>Acc	p.S125T	RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.S125T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S125T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CAGGCTGGCGTCCAGCTACAT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											90	88	89					6																	134210908		2198	4298	6496	SO:0001583	missense	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.373T>A	6.37:g.134210908T>A	ENSP00000356857:p.Ser125Thr		E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S125T	ENST00000367882.4	37	c.373	CCDS5167.1	6	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011206	0.75046	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.97642	-4.47;-4.47	4.17	4.17	0.49024	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	N	0.02202	-0.64	0.80722	D	1	B	0.25486	0.127	B	0.44224	0.444	D	0.87651	0.2528	10	0.37606	T	0.19	-15.9479	13.5307	0.61621	0.0:0.0:0.0:1.0	.	125	O43680	TCF21_HUMAN	T	125	ENSP00000356857:S125T;ENSP00000237316:S125T	ENSP00000237316:S125T	S	+	1	0	TCF21	134252601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.160000	0.71862	1.654000	0.50703	0.379000	0.24179	TCC	TCF21	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.617	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	T	NM_198392		134210908	1	no_errors	ENST00000237316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134210908	T	A	134210908	3	1	61	1	0	0	0	0	1	0	0	0	15721	1667	58	5	375	5	TCF21	6	134210908	Missense_Mutation	SNP	T	TCGA-DS-A0VM-01A-11D-A10S-08	2142921	134210908	36904159	129	9472										
IL20RA	53832	genome.wustl.edu	37	chr6	137323176	137323176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	attcaatgactgttttatccGggggtattgttctgctgagg	12	6	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:137323176G>A	ENST00000316649.5	-	7	1416	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	IL20RA_ENST00000541547.1_Missense_Mutation_p.P345L|IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000367748.1_Missense_Mutation_p.P283L|RP11-204P2.3_ENST00000458017.1_RNA	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	394					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.P394L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTTTTATCCGGGGGTATTGT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											79	74	76					6																	137323176		2203	4300	6503	SO:0001583	missense	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1181C>T	6.37:g.137323176G>A	ENSP00000314976:p.Pro394Leu		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.P394L	ENST00000316649.5	37	c.1181	CCDS5181.1	6	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587281	0.28268	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.59224	0.55;1.99;0.28	5.96	-0.467	0.12150	.	2.835460	0.00678	N	0.000660	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.011;0.017	B;B	0.09377	0.004;0.004	T	0.06092	-1.0846	10	0.25751	T	0.34	0.671	1.6701	0.02810	0.2357:0.3196:0.3137:0.131	.	283;394	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	L	394;283;345	ENSP00000314976:P394L;ENSP00000356722:P283L;ENSP00000437843:P345L	ENSP00000314976:P394L	P	-	2	0	IL20RA	137364869	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.174000	0.09839	0.128000	0.18479	0.655000	0.94253	CCG	IL20RA	-	NULL		0.468	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RA	HGNC	protein_coding	OTTHUMT00000042393.1	G	NM_014432		137323176	-1	no_errors	ENST00000316649	ensembl	human	known	70_37	missense	SNP	0.000	A	A	137323176	G	A	137323176	3	1	61	1	0	0	0	0	1	0	0	0	7688	1116	39	2	484	2	IL20RA	6	137323176	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3112268	137323176	33791891	130	9473										
KIF25	3834	genome.wustl.edu	37	chr6	168443353	168443353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gagcaccgtggccatgccccGtaccggaacagcaggctcac	12	16	1	0	rs147561163		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:168443353G>A	ENST00000443060.2	+	9	1333	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_ENST00000354419.2_Silent_p.P314P|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	112	107	109		,942	-8.2	0	6	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	,314/385	168443353	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.942G>A	6.37:g.168443353G>A			O94775|Q5SZU9	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P314	ENST00000443060.2	37	c.942	CCDS5305.1	6																																																																																			KIF25	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25	HGNC	protein_coding	OTTHUMT00000362509.1	G			168443353	1	no_errors	ENST00000354419	ensembl	human	known	70_37	silent	SNP	0.157	A	A	168443353	G	A	168443353	2	1	61	1	0	0	0	0	0	0	0	1	8313	1132	40	2		2	KIF25	6	168443353	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	31120177	168443353	2671714	131	9474										
CARD11	84433	genome.wustl.edu	37	chr7	2963931	2963931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtcgtaggcatccaggccctCggattggtgggaggaggagg	19	8	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:2963931C>T	ENST00000396946.4	-	15	2279	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	626					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.E619K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCAGGCCCTCGGATTGGTGG	0.602			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	cervix(1)											80	67	72					7																	2963931		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1876G>A	7.37:g.2963931C>T	ENSP00000380150:p.Glu626Lys		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E626K	ENST00000396946.4	37	c.1876	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516723	0.64634	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.47528	0.84;0.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.50405	0.64	T	0.12344	-1.0551	10	0.10902	T	0.67	-29.758	16.815	0.85732	0.0:1.0:0.0:0.0	.	626	Q9BXL7	CAR11_HUMAN	K	626;97	ENSP00000380150:E626K;ENSP00000347695:E97K	ENSP00000347695:E97K	E	-	1	0	CARD11	2930457	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	6.942000	0.75928	2.416000	0.81992	0.555000	0.69702	GAG	CARD11	-	NULL		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2963931	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2963931	C	T	2963931	3	4	61	1	0	0	0	0	1	0	0	0	2650	893	31	1	1632	1	CARD11	7	2963931	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		2963931	156174732	132	9475										
DNAH11	8701	genome.wustl.edu	37	chr7	21789930	21789930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgctctgggcatggtagactCcagggaaaactgttggaaat	13	7	1	1	rs374033085	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:21789930C>A	ENST00000409508.3	+	54	8919	c.8888C>A	c.(8887-8889)tCc>tAc	p.S2963Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2970Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2970	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2970Y(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGGTAGACTCCAGGGAAAAC	0.413									Kartagener syndrome				C|||	2	0.000399361	0	0.0029	5008	,	,		18242	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)						C	TYR/SER	0,3746		0,0,1873	66	65	65		8910	4.9	1	7		65	5,8205		0,5,4100	no	missense	DNAH11	NM_003777.3	144	0,5,5973	AA,AC,CC		0.0609,0.0,0.0418	possibly-damaging	2970/4524	21789930	5,11951	1873	4105	5978	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8888C>A	7.37:g.21789930C>A	ENSP00000475939:p.Ser2963Tyr		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S2970Y	ENST00000409508.3	37	c.8909		7	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412917	0.62511	0.0	6.09E-4	ENSG00000105877	ENST00000328843	T	0.44881	0.91	5.8	4.92	0.64577	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.537884	0.21166	N	0.079074	T	0.63129	0.2485	.	.	.	0.42035	D	0.991046	D	0.67145	0.996	D	0.66196	0.942	T	0.68127	-0.5491	9	0.87932	D	0	.	12.699	0.57020	0.0:0.8632:0.0:0.1368	.	2970	Q96DT5	DYH11_HUMAN	Y	2970	ENSP00000330671:S2970Y	ENSP00000330671:S2970Y	S	+	2	0	DNAH11	21756455	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.443000	0.35057	1.455000	0.47813	0.655000	0.94253	TCC	DNAH11	-	smart_AAA+_ATPase		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	C	NM_003777		21789930	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21789930	C	A	21789930	3	1	61	1	0	0	0	0	1	0	0	0	4609	855	30	3	9124	3	DNAH11	7	21789930	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	18825999	21789930	137348733	133	9476										
CCDC129	223075	genome.wustl.edu	37	chr7	31682837	31682837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgttgactctgaggccccacGagaagaggaaagcagtggat	14	8	1	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:31682837G>T	ENST00000407970.3	+	11	1891	c.1853G>T	c.(1852-1854)cGa>cTa	p.R618L	CCDC129_ENST00000451887.2_Missense_Mutation_p.R644L|CCDC129_ENST00000409210.1_Missense_Mutation_p.R526L|CCDC129_ENST00000319386.3_Missense_Mutation_p.R470L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	618								p.R618L(1)|p.R470L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGGCCCCACGAGAAGAGGAA	0.488																																																	2	Substitution - Missense(2)	cervix(2)											118	110	113					7																	31682837		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1853G>T	7.37:g.31682837G>T	ENSP00000384416:p.Arg618Leu		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.R644L	ENST00000407970.3	37	c.1931	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400419	0.62177	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19250	2.16;2.43;2.42;2.17	6.02	0.913	0.19354	.	1.466740	0.04025	N	0.300375	T	0.34658	0.0905	M	0.65975	2.015	0.09310	N	1	D;D;D;D	0.60575	0.979;0.988;0.988;0.959	P;P;P;P	0.52672	0.648;0.706;0.706;0.488	T	0.12915	-1.0529	10	0.62326	D	0.03	-17.3979	5.8617	0.18752	0.2204:0.2551:0.5245:0.0	.	644;628;618;470	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	L	470;618;644;628;526	ENSP00000313062:R470L;ENSP00000384416:R618L;ENSP00000395835:R644L;ENSP00000387214:R526L	ENSP00000313062:R470L	R	+	2	0	CCDC129	31649362	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	0.152000	0.16302	-0.104000	0.12154	0.655000	0.94253	CGA	CCDC129	-	NULL		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	G	NM_194300		31682837	1	no_errors	ENST00000451887	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31682837	G	T	31682837	3	4	61	1	0	0	0	0	1	0	0	0	2769	1058	37	3	1891	3	CCDC129	7	31682837	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	9892907	31682837	127455826	134	9477										
AOAH	313	genome.wustl.edu	37	chr7	36616224	36616224	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccctgtgattacagtggtttCttttccataagcgaaggtaa	9	8	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:36616224C>G	ENST00000258749.5	-	13	1376	c.977G>C	c.(976-978)aGa>aCa	p.R326T	AOAH_ENST00000431169.1_Missense_Mutation_p.R326T|AOAH_ENST00000538464.1_Missense_Mutation_p.R48T|AOAH_ENST00000535891.1_Missense_Mutation_p.R294T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	326					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.R326T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACAGTGGTTTCTTTTCCATAA	0.294																																																	1	Substitution - Missense(1)	cervix(1)											154	147	150					7																	36616224		2203	4300	6503	SO:0001583	missense	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.977G>C	7.37:g.36616224C>G	ENSP00000258749:p.Arg326Thr		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.R326T	ENST00000258749.5	37	c.977	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674088	0.67928	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.9	4.9	0.64082	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.146441	0.47852	D	0.000204	T	0.50240	0.1604	.	.	.	0.41235	D	0.9866	D;D;D	0.89917	0.991;1.0;0.999	D;D;D	0.79784	0.991;0.993;0.966	T	0.52990	-0.8501	9	0.87932	D	0	.	13.793	0.63152	0.0:1.0:0.0:0.0	.	294;326;326	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	T	48;294;326;326;326	ENSP00000439283:R48T;ENSP00000441101:R294T;ENSP00000258749:R326T;ENSP00000405683:R326T	ENSP00000258749:R326T	R	-	2	0	AOAH	36582749	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.506000	0.53364	2.708000	0.92522	0.650000	0.86243	AGA	AOAH	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.294	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36616224	-1	no_errors	ENST00000258749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36616224	C	G	36616224	3	3	61	1	0	0	0	0	1	0	0	0	726	913	32	1	1127	1	AOAH	7	36616224	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4933387	36616224	122522439	135	9478										
PSPH	5723	genome.wustl.edu	37	chr7	56082739	56082739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggaggacaggcttccatatCtgtggcaccatctccaatca	9	12	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:56082739C>T	ENST00000395471.3	-	7	1352	c.547G>A	c.(547-549)Gat>Aat	p.D183N	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Missense_Mutation_p.D183N			P78330	SERB_HUMAN	phosphoserine phosphatase	183					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.D183N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTCCATATCTGTGGCACCA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											68	72	70					7																	56082739		2203	4300	6503	SO:0001583	missense	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.547G>A	7.37:g.56082739C>T	ENSP00000378854:p.Asp183Asn		B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.D183N	ENST00000395471.3	37	c.547	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854521	0.91355	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.99667	-6.34;-6.34;-6.34	5.69	5.69	0.88448	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.99475	4.585	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.979	D	0.96535	0.9396	10	0.87932	D	0	-26.4907	18.7908	0.91973	0.0:1.0:0.0:0.0	.	183;183	Q53EY1;P78330	.;SERB_HUMAN	N	183	ENSP00000275605:D183N;ENSP00000378854:D183N;ENSP00000398653:D183N	ENSP00000275605:D183N	D	-	1	0	PSPH	56050233	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.598000	0.82745	2.678000	0.91216	0.591000	0.81541	GAT	PSPH	-	pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like		0.303	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	C	NM_004577		56082739	-1	no_errors	ENST00000275605	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56082739	C	T	56082739	3	4	61	1	0	0	0	0	1	0	0	0	12744	913	32	1	138	1	PSPH	7	56082739	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	19466515	56082739	103055924	136	9479										
PION	54103	genome.wustl.edu	37	chr7	77010632	77010632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaatctttaccactctatttCcatcttcttgggcgacatgg	6	11	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:77010632C>A	ENST00000257626.7	-	8	644	c.566G>T	c.(565-567)gGa>gTa	p.G189V		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	189					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.G189V(1)									CACTCTATTTCCATCTTCTTG	0.284																																																	1	Substitution - Missense(1)	cervix(1)											80	75	77					7																	77010632		1805	4070	5875	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.566G>T	7.37:g.77010632C>A	ENSP00000257626:p.Gly189Val		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.G189V	ENST00000257626.7	37	c.566	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154331	0.57259	.	.	ENSG00000186088	ENST00000257626	T	0.21543	2.0	6.05	2.87	0.33458	.	0.658522	0.12515	U	0.462130	T	0.37865	0.1019	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.07888	-1.0749	10	0.51188	T	0.08	.	8.1534	0.31154	0.0:0.6623:0.0:0.3377	.	189	A4D1B5	GSAP_HUMAN	V	189	ENSP00000257626:G189V	ENSP00000257626:G189V	G	-	2	0	PION	76848568	0.991000	0.36638	0.996000	0.52242	0.965000	0.64279	0.589000	0.23939	0.897000	0.36392	0.650000	0.86243	GGA	PION	-	NULL		0.284	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PION	HGNC	protein_coding	OTTHUMT00000318672.2	C	NM_017439		77010632	-1	no_errors	ENST00000257626	ensembl	human	known	70_37	missense	SNP	0.944	A	A	77010632	C	A	77010632	3	1	61	1	0	0	0	0	1	0	0	0	11958	855	30	3	2094	3	PION	7	77010632	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	20927893	77010632	82128031	137	9480										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113558804	113558804	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttgaagcactcggtaattccCagcaatcaaattctttaaca	5	10	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:113558804C>T	ENST00000284601.3	-	1	316	c.248G>A	c.(247-249)tGg>tAg	p.W83*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	83					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.W83*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CGGTAATTCCCAGCAATCAAA	0.398																																																	1	Substitution - Nonsense(1)	cervix(1)											89	85	87					7																	113558804		2203	4300	6503	SO:0001587	stop_gained	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.248G>A	7.37:g.113558804C>T	ENSP00000284601:p.Trp83*		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.W83*	ENST00000284601.3	37	c.248	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.460507	0.97585	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.17	6.17	0.99709	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1246	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	83	.	ENSP00000284601:W83X	W	-	2	0	PPP1R3A	113346040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.189000	0.77747	2.941000	0.99782	0.655000	0.94253	TGG	PPP1R3A	-	NULL		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	C	NM_002711		113558804	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	113558804	C	T	113558804	4	4	61	1	0	0	0	0	0	1	0	0	12398	595	21	4	3136	4	PPP1R3A	7	113558804	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	36548172	113558804	45579859	138	9481										
ZNF398	57541	genome.wustl.edu	37	chr7	148863947	148863947	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgatgtcttatctcagattCaaccagaaggggaacataat	8	8	3	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:148863947C>G	ENST00000475153.1	+	4	853	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	ZNF398_ENST00000491174.1_Missense_Mutation_p.Q25E|ZNF398_ENST00000483892.1_Missense_Mutation_p.Q25E|ZNF398_ENST00000335901.4_Missense_Mutation_p.Q25E|ZNF398_ENST00000540950.1_Missense_Mutation_p.Q201E|ZNF398_ENST00000420008.2_Missense_Mutation_p.Q25E|ZNF398_ENST00000426851.2_Missense_Mutation_p.Q25E			Q8TD17	ZN398_HUMAN	zinc finger protein 398	196	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|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.Q196E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ATCTCAGATTCAACCAGAAGG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											97	87	90					7																	148863947		2203	4300	6503	SO:0001583	missense	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.586C>G	7.37:g.148863947C>G	ENSP00000420418:p.Gln196Glu		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Q201E	ENST00000475153.1	37	c.601	CCDS5894.1	7	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587128	0.46110	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.04015	3.73;3.73;6.08;3.73;3.73;6.08;3.73	5.09	4.2	0.49525	Krueppel-associated box (3);	0.000000	0.46758	D	0.000270	T	0.01905	0.0060	N	0.02973	-0.45	0.28958	N	0.889983	B;B	0.29037	0.231;0.03	B;B	0.25140	0.058;0.009	T	0.38067	-0.9678	10	0.02654	T	1	-19.393	11.4568	0.50187	0.0:0.8187:0.1813:0.0	.	201;196	B4DXA9;Q8TD17	.;ZN398_HUMAN	E	25;25;196;25;25;201;25	ENSP00000389972:Q25E;ENSP00000416751:Q25E;ENSP00000420418:Q196E;ENSP00000418564:Q25E;ENSP00000419391:Q25E;ENSP00000439340:Q201E;ENSP00000338984:Q25E	ENSP00000338984:Q25E	Q	+	1	0	ZNF398	148494880	0.732000	0.28121	1.000000	0.80357	0.993000	0.82548	0.716000	0.25836	1.362000	0.46000	0.557000	0.71058	CAA	ZNF398	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.423	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	HGNC	protein_coding	OTTHUMT00000352722.2	C			148863947	1	no_errors	ENST00000540950	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148863947	C	G	148863947	3	3	61	1	0	0	0	0	1	0	0	0	17915	827	29	1	600	1	ZNF398	7	148863947	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	35305143	148863947	10274716	139	9482										
MLL3	58508	genome.wustl.edu	37	chr7	151917764	151917764	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aactgtgaggctctgtaactGagtcatccctgattcagtca	9	10	4	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:151917764G>A	ENST00000262189.6	-	23	3774	c.3556C>T	c.(3556-3558)Cag>Tag	p.Q1186*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1186*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1186					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1186*(2)									CTCTGTAACTGAGTCATCCCT	0.383																																																	2	Substitution - Nonsense(2)	cervix(2)											67	63	65					7																	151917764		2203	4297	6500	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3556C>T	7.37:g.151917764G>A	ENSP00000262189:p.Gln1186*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1186*	ENST00000262189.6	37	c.3556	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.700319	0.99452	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.41605	U	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1186	.	ENSP00000262189:Q1186X	Q	-	1	0	MLL3	151548697	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.351000	0.97073	2.161000	0.67846	0.484000	0.47621	CAG	MLL3	-	NULL		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151917764	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151917764	G	A	151917764	4	1	61	1	0	0	0	0	0	1	0	0	9645	1299	45	1	11327	1	MLL3	7	151917764	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3053817	151917764	7220899	140	9483										
C8orf42	157695	genome.wustl.edu	37	chr8	442413	442413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cccccctcactccgcctcctCcgggctatctgtcaggtggc	9	20	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:442413C>T	ENST00000324079.6	-	3	784	c.544G>A	c.(544-546)Gag>Aag	p.E182K	TDRP_ENST00000427263.2_Intron|TDRP_ENST00000523656.1_Intron|TDRP_ENST00000524229.1_5'Flank			Q86YL5	TDRP_HUMAN	testis development related protein	182					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E182K(1)									TCCGCCTCCTCCGGGCTATCT	0.607																																																	1	Substitution - Missense(1)	cervix(1)											10	11	11					8																	442413		2056	4201	6257	SO:0001583	missense	157695			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 42"	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.544G>A	8.37:g.442413C>T	ENSP00000315111:p.Glu182Lys		B6VF03|B9EG53	Missense_Mutation	SNP	NULL	p.E182K	ENST00000324079.6	37	c.544	CCDS47759.1	8	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262262	0.59431	.	.	ENSG00000180190	ENST00000324079	.	.	.	6.08	5.19	0.71726	.	0.099847	0.64402	D	0.000003	T	0.64271	0.2583	L	0.46157	1.445	0.80722	D	1	D	0.57571	0.98	P	0.54856	0.762	T	0.66763	-0.5841	9	0.56958	D	0.05	.	15.1125	0.72368	0.0:0.8578:0.1422:0.0	.	182	Q86YL5	CH042_HUMAN	K	182	.	ENSP00000315111:E182K	E	-	1	0	C8orf42	432413	1.000000	0.71417	0.490000	0.27465	0.086000	0.17979	4.921000	0.63397	1.541000	0.49316	0.655000	0.94253	GAG	C8orf42	-	NULL		0.607	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf42	HGNC	protein_coding	OTTHUMT00000374442.1	C	NM_175075		442413	-1	no_errors	ENST00000324079	ensembl	human	known	70_37	missense	SNP	0.998	T	T	442413	C	T	442413	3	4	61	1	0	0	0	0	1	0	0	0	2433	864	30	1	17	1	C8orf42	8	442413	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		442413	145921609	141	9484										
EPHX2	2053	genome.wustl.edu	37	chr8	27398141	27398141	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	actgaggaggaaatccagttCtatgtgcagcagttcaagaa	11	7	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:27398141C>G	ENST00000521400.1	+	15	1777	c.1347C>G	c.(1345-1347)ttC>ttG	p.F449L	EPHX2_ENST00000521780.1_Missense_Mutation_p.F383L|EPHX2_ENST00000518379.1_Missense_Mutation_p.F417L|EPHX2_ENST00000517536.1_Missense_Mutation_p.F266L|EPHX2_ENST00000380476.3_Missense_Mutation_p.F396L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	449	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.F449L(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		AAATCCAGTTCTATGTGCAGC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											99	97	98					8																	27398141		2203	4300	6503	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1347C>G	8.37:g.27398141C>G	ENSP00000430269:p.Phe449Leu		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.F449L	ENST00000521400.1	37	c.1347	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327769	0.81690	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.79	4.9	0.64082	Alpha/beta hydrolase fold-1 (1);	0.278556	0.41712	D	0.000837	T	0.60728	0.2291	M	0.68317	2.08	0.46396	D	0.999029	P;P	0.40431	0.633;0.717	B;P	0.45506	0.285;0.483	T	0.63888	-0.6535	10	0.62326	D	0.03	-12.5155	9.9511	0.41638	0.0:0.9053:0.0:0.0947	.	417;449	E5RFU2;P34913	.;HYES_HUMAN	L	449;266;383;396;396;417	ENSP00000430269:F449L;ENSP00000428875:F266L;ENSP00000430302:F383L;ENSP00000369843:F396L;ENSP00000427956:F417L	ENSP00000369843:F396L	F	+	3	2	EPHX2	27454058	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.358000	0.44134	1.416000	0.47057	0.455000	0.32223	TTC	EPHX2	-	pfam_AB_hydrolase_1		0.493	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	C			27398141	1	no_errors	ENST00000521400	ensembl	human	known	70_37	missense	SNP	0.970	G	G	27398141	C	G	27398141	3	3	61	1	0	0	0	0	1	0	0	0	5192	912	32	1	1405	1	EPHX2	8	27398141	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	26955728	27398141	118965881	142	9485										
GDF6	392255	genome.wustl.edu	37	chr8	97157727	97157727	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcaaacaaatacttctgtctCcggagaggagtgtgcgagag	12	8	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:97157727C>A	ENST00000287020.5	-	2	531	c.432G>T	c.(430-432)cgG>cgT	p.R144R		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	144					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.R144R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ACTTCTGTCTCCGGAGAGGAG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											20	26	24					8																	97157727		1681	3344	5025	SO:0001819	synonymous_variant	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.432G>T	8.37:g.97157727C>A			Q6PI58	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R144	ENST00000287020.5	37	c.432	CCDS34926.1	8																																																																																			GDF6	-	pfam_TGF-b_N		0.572	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	C	NM_001001557		97157727	-1	no_errors	ENST00000287020	ensembl	human	known	70_37	silent	SNP	1.000	A	A	97157727	C	A	97157727	2	1	61	1	0	0	0	0	0	0	0	1	6336	842	30	3		3	GDF6	8	97157727	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	69759586	97157727	49206295	143	9486										
TSPYL5	85453	genome.wustl.edu	37	chr8	98289988	98289988	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtcgcgcggggcgtcgtccgGagcagggcggactcgggctt	20	12	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:98289988G>C	ENST00000322128.3	-	1	188	c.85C>G	c.(85-87)Ccg>Gcg	p.P29A		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	29					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.P29A(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCGTCGTCCGGAGCAGGGCGG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											9	10	10					8																	98289988		2137	4153	6290	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.85C>G	8.37:g.98289988G>C	ENSP00000322802:p.Pro29Ala		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.P29A	ENST00000322128.3	37	c.85	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213694	0.22289	.	.	ENSG00000180543	ENST00000322128	T	0.26373	1.74	3.82	0.821	0.18799	.	0.445392	0.16719	N	0.202333	T	0.13500	0.0327	N	0.25332	0.735	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30475	-0.9977	10	0.16896	T	0.51	-4.5676	5.7418	0.18098	0.1142:0.4088:0.477:0.0	.	29	Q86VY4	TSYL5_HUMAN	A	29	ENSP00000322802:P29A	ENSP00000322802:P29A	P	-	1	0	TSPYL5	98359164	0.551000	0.26497	0.007000	0.13788	0.566000	0.35808	0.592000	0.23984	0.154000	0.19237	0.561000	0.74099	CCG	TSPYL5	-	NULL		0.716	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	G	NM_033512		98289988	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.027	C	C	98289988	G	C	98289988	3	2	61	1	0	0	0	0	1	0	0	0	16693	1174	41	1	1172	1	TSPYL5	8	98289988	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1132261	98289988	48074034	144	9487										
VPS13B	157680	genome.wustl.edu	37	chr8	100654154	100654154	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cagtgacagtgttaaaatcaGaatagtgcaaatagagcagc	10	6	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:100654154G>C	ENST00000358544.2	+	34	5522	c.5411G>C	c.(5410-5412)aGa>aCa	p.R1804T	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1779T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1804					protein transport (GO:0015031)			p.R1804T(1)|p.R1779T(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTAAAATCAGAATAGTGCAA	0.433																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	cervix(2)											103	96	98					8																	100654154		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5411G>C	8.37:g.100654154G>C	ENSP00000351346:p.Arg1804Thr		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R1804T	ENST00000358544.2	37	c.5411	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524387	0.85600	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70516	-0.49;-0.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.68353	0.957;0.906	T	0.65813	-0.6077	10	0.06757	T	0.87	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1779;1804	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	T	1779;1804	ENSP00000349685:R1779T;ENSP00000351346:R1804T	ENSP00000349685:R1779T	R	+	2	0	VPS13B	100723330	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.338000	0.72963	2.826000	0.97356	0.655000	0.94253	AGA	VPS13B	-	NULL		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100654154	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100654154	G	C	100654154	3	2	61	1	0	0	0	0	1	0	0	0	17221	942	33	1	5735	1	VPS13B	8	100654154	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2364166	100654154	45709868	145	9488										
YWHAZ	7534	genome.wustl.edu	37	chr8	101960892	101960893	+	Frame_Shift_Ins	INS	-	-	T													0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tattctcgagccatctgctgINSttttttctcagcaccttccg							TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:101960892_101960893insT	ENST00000395957.2	-	3	566_567	c.225_226insA	c.(223-228)aaacagfs	p.Q76fs	YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000395951.3_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000353245.3_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000395948.2_5'UTR|YWHAZ_ENST00000419477.2_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000395953.2_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000457309.1_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000395956.3_Frame_Shift_Ins_p.Q76fs			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	76					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GCCATCTGCTGTTTTTTCTCAG	0.416																																																	0																																										SO:0001589	frameshift_variant	7534			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"14-3-3 zeta", "14-3-3 delta"	601288	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.226dupA	8.37:g.101960898_101960898dupT	ENSP00000379287:p.Gln76fs		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Frame_Shift_Ins	INS	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.Q75fs	ENST00000395957.2	37	c.226_225	CCDS6290.1	8																																																																																			YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3		0.416	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	-	NM_145690		101960893	-1	no_errors	ENST00000353245	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.995	T	T	101960893	-	T	101960892	7	5	61	1	0	1	1	0	0	0	0	0	17537	1386	48	0	531	0	YWHAZ	8	101960892	Frame_Shift_Ins	INS	-	TCGA-DS-A0VM-01A-11D-A10S-08	1306738	101960892	44403130	146	9489										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110393634	110393634	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	accagtttaactatggagttGataacgctgagttgggaaac	11	6	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:110393634G>A	ENST00000378402.5	+	3	303	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	67	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D67N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGGAGTTGATAACGCTGA	0.328										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	cervix(1)											60	58	59					8																	110393634		1821	4072	5893	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.199G>A	8.37:g.110393634G>A	ENSP00000367655:p.Asp67Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D67N	ENST00000378402.5	37	c.199	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543274	0.27563	.	.	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	6.16	5.26	0.73747	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.188029	0.46145	D	0.000301	T	0.63462	0.2513	N	0.17674	0.51	0.24537	N	0.994086	B	0.13594	0.008	B	0.20955	0.032	T	0.36915	-0.9728	10	0.10111	T	0.7	.	15.5091	0.75766	0.0:0.1378:0.8622:0.0	.	67	Q86WI1	PKHL1_HUMAN	N	67	ENSP00000367655:D67N	ENSP00000367655:D67N	D	+	1	0	PKHD1L1	110462810	0.543000	0.26434	0.996000	0.52242	0.923000	0.55619	1.817000	0.39002	2.937000	0.99478	0.650000	0.86243	GAT	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110393634	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110393634	G	A	110393634	3	1	61	1	0	0	0	0	1	0	0	0	11996	1290	45	1	209	1	PKHD1L1	8	110393634	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8432742	110393634	35970388	147	9490										
EBAG9	9166	genome.wustl.edu	37	chr8	110569206	110569206	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cattgaattttggcatcccaGatgggagcacaggtttctct	10	9	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:110569206G>C	ENST00000337573.5	+	5	664	c.364G>C	c.(364-366)Gat>Cat	p.D122H	EBAG9_ENST00000531677.1_Missense_Mutation_p.D122H|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.D122H	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	122					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.D122H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TGGCATCCCAGATGGGAGCAC	0.338																																																	1	Substitution - Missense(1)	cervix(1)											102	94	97					8																	110569206		2203	4299	6502	SO:0001583	missense	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.364G>C	8.37:g.110569206G>C	ENSP00000337675:p.Asp122His		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	pirsf_Cancer-assoc_antigen_RCAS1	p.D122H	ENST00000337573.5	37	c.364	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783622	0.90282	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.75	5.75	0.90469	.	0.040396	0.85682	D	0.000000	T	0.58148	0.2102	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	P	0.47603	0.551	T	0.61252	-0.7100	9	0.72032	D	0.01	-2.6109	19.2924	0.94105	0.0:0.0:1.0:0.0	.	122	O00559	RCAS1_HUMAN	H	122;25;122;122;122	.	ENSP00000337675:D122H	D	+	1	0	EBAG9	110638382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.110000	0.94302	2.878000	0.98634	0.650000	0.86243	GAT	EBAG9	-	pirsf_Cancer-assoc_antigen_RCAS1		0.338	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	HGNC	protein_coding	OTTHUMT00000383536.1	G	NM_004215		110569206	1	no_errors	ENST00000337573	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110569206	G	C	110569206	3	2	61	1	0	0	0	0	1	0	0	0	4889	942	33	1	378	1	EBAG9	8	110569206	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	175572	110569206	35794816	148	9491										
ATAD2	29028	genome.wustl.edu	37	chr8	124408481	124408481	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgcgccgcgccggccgagcgGagccgcctccggccgatgtg	17	17	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:124408481G>C	ENST00000287394.5	-	1	224	c.117C>G	c.(115-117)ctC>ctG	p.L39L	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	39					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L39L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGCCGAGCGGAGCCGCCTCC	0.716																																																	1	Substitution - coding silent(1)	cervix(1)											10	14	13					8																	124408481		2188	4294	6482	SO:0001819	synonymous_variant	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.117C>G	8.37:g.124408481G>C			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L39	ENST00000287394.5	37	c.117	CCDS6343.1	8																																																																																			ATAD2	-	NULL		0.716	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	G	NM_014109		124408481	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	silent	SNP	0.989	C	C	124408481	G	C	124408481	2	2	61	1	0	0	0	0	0	0	0	1	1072	1161	41	1		1	ATAD2	8	124408481	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	13839275	124408481	21955541	149	9492										
CYP11B2	1585	genome.wustl.edu	37	chr8	143995805	143995805	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agggcggttgaaggccagttCctggtagattttctggatac	14	7	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:143995805C>A	ENST00000323110.2	-	5	831	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	277					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.E277*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AAGGCCAGTTCCTGGTAGATT	0.557									Familial Hyperaldosteronism type I																																								1	Substitution - Nonsense(1)	cervix(1)											118	103	108					8																	143995805		2203	4300	6503	SO:0001587	stop_gained	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.829G>T	8.37:g.143995805C>A	ENSP00000325822:p.Glu277*		B0ZBE4|Q16726	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E277*	ENST00000323110.2	37	c.829	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	18.75	3.690565	0.68271	.	.	ENSG00000179142	ENST00000323110	.	.	.	3.96	3.05	0.35203	.	0.000000	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	11.1123	0.48241	0.0:0.8109:0.1891:0.0	.	.	.	.	X	277	.	ENSP00000325822:E277X	E	-	1	0	CYP11B2	143992807	0.923000	0.31300	0.143000	0.22291	0.009000	0.06853	0.296000	0.19083	0.835000	0.34877	0.462000	0.41574	GAA	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.557	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	C			143995805	-1	no_errors	ENST00000323110	ensembl	human	known	70_37	nonsense	SNP	0.633	A	A	143995805	C	A	143995805	4	1	61	1	0	0	0	0	0	1	0	0	4151	864	30	3	702	3	CYP11B2	8	143995805	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	19587324	143995805	2368217	150	9493										
GPR172A	79581	genome.wustl.edu	37	chr8	145584267	145584267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caggtccttggcagggctggGcggcctctctctgctgggcg	17	13	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:145584267G>A	ENST00000532887.1	+	4	1602	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	SLC52A2_ENST00000329994.2_Missense_Mutation_p.G340D|SLC52A2_ENST00000540505.1_Missense_Mutation_p.G252D|SLC52A2_ENST00000527078.1_Missense_Mutation_p.G340D|SLC52A2_ENST00000402965.1_Missense_Mutation_p.G340D|FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.G340D|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	340					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.G340D(1)								Gamma Hydroxybutyric Acid(DB01440)	GCAGGGCTGGGCGGCCTCTCT	0.706																																																	1	Substitution - Missense(1)	cervix(1)											53	60	58					8																	145584267		2202	4300	6502	SO:0001583	missense	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1019G>A	8.37:g.145584267G>A	ENSP00000436768:p.Gly340Asp		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.G340D	ENST00000532887.1	37	c.1019	CCDS6423.1	8	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071657	0.36566	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.69	2.82	0.32997	.	0.237751	0.41938	D	0.000792	T	0.78489	0.4291	M	0.79693	2.465	0.44241	D	0.997086	P	0.45531	0.86	P	0.50896	0.653	T	0.74191	-0.3745	10	0.36615	T	0.2	.	8.0705	0.30687	0.0932:0.1835:0.7233:0.0	.	340	Q9HAB3	RFT3_HUMAN	D	340;340;340;340;340;252	ENSP00000435820:G340D;ENSP00000434728:G340D;ENSP00000385961:G340D;ENSP00000436768:G340D;ENSP00000333638:G340D;ENSP00000440400:G252D	ENSP00000333638:G340D	G	+	2	0	GPR172A	145555075	0.993000	0.37304	0.027000	0.17364	0.077000	0.17291	2.148000	0.42235	0.349000	0.23975	0.462000	0.41574	GGC	SLC52A2	-	pfam_Endogenous_retrovirus_rcpt		0.706	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	HGNC	protein_coding	OTTHUMT00000382405.1	G	NM_024531		145584267	1	no_errors	ENST00000329994	ensembl	human	known	70_37	missense	SNP	0.871	A	A	145584267	G	A	145584267	3	1	61	1	0	0	0	0	1	0	0	0	6688	1203	42	4	1029	4	GPR172A	8	145584267	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1588462	145584267	779755	151	9494										
ERP44	23071	genome.wustl.edu	37	chr9	102782991	102782991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agtccttttgctcaaaatatCcaatgatatttcttttgctg	5	8	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:102782991C>G	ENST00000262455.6	-	6	693	c.494G>C	c.(493-495)gGa>gCa	p.G165A		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	165					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)	p.G165A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CTCAAAATATCCAATGATATT	0.318																																																	1	Substitution - Missense(1)	cervix(1)											86	77	80					9																	102782991		2203	4300	6503	SO:0001583	missense	23071			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.494G>C	9.37:g.102782991C>G	ENSP00000262455:p.Gly165Ala		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	p.G165A	ENST00000262455.6	37	c.494	CCDS35082.1	9	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989586	0.53934	.	.	ENSG00000023318	ENST00000262455	D	0.92149	-2.98	5.48	5.48	0.80851	Thioredoxin-like fold (2);	0.142255	0.64402	D	0.000005	D	0.90448	0.7009	L	0.46947	1.48	0.80722	D	1	B	0.23735	0.09	B	0.29524	0.103	D	0.86476	0.1788	10	0.33940	T	0.23	-6.726	19.4081	0.94656	0.0:1.0:0.0:0.0	.	165	Q9BS26	ERP44_HUMAN	A	165	ENSP00000262455:G165A	ENSP00000262455:G165A	G	-	2	0	ERP44	101822812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.603000	0.61105	2.590000	0.87494	0.551000	0.68910	GGA	ERP44	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold		0.318	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP44	HGNC	protein_coding	OTTHUMT00000053402.1	C	XM_088476		102782991	-1	no_errors	ENST00000262455	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102782991	C	G	102782991	3	3	61	1	0	0	0	0	1	0	0	0	5255	855	30	1	754	1	ERP44	9	102782991	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		102782991	38430440	152	9495										
NR6A1	2649	genome.wustl.edu	37	chr9	127300382	127300382	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctcactcacccatcttcaatCaacatgggcgtgcccaatgg	7	15	5	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:127300382C>G	ENST00000487099.2	-	6	970	c.813G>C	c.(811-813)ttG>ttC	p.L271F	NR6A1_ENST00000373584.3_Missense_Mutation_p.L267F|NR6A1_ENST00000344523.4_Missense_Mutation_p.L270F|NR6A1_ENST00000416460.2_Missense_Mutation_p.L266F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	271					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L271F(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CATCTTCAATCAACATGGGCG	0.582																																					Esophageal Squamous(192;272 2884 6208 20560)												1	Substitution - Missense(1)	cervix(1)											90	82	85					9																	127300382		2203	4300	6503	SO:0001583	missense	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.813G>C	9.37:g.127300382C>G	ENSP00000420267:p.Leu271Phe		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L271F	ENST00000487099.2	37	c.813	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482274	0.63962	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.95724	-3.15;-3.28;-3.27;-3.15;-3.79	5.39	5.39	0.77823	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	L	0.47716	1.5	0.53688	D	0.999977	D;D;D	0.67145	0.972;0.992;0.996	P;P;D	0.64321	0.468;0.851;0.924	D	0.91650	0.5334	10	0.10111	T	0.7	.	9.5122	0.39085	0.1488:0.6875:0.1637:0.0	.	267;271;266	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	F	271;267;266;270;229	ENSP00000420267:L271F;ENSP00000362686:L267F;ENSP00000413701:L266F;ENSP00000341135:L270F;ENSP00000420587:L229F	ENSP00000341135:L270F	L	-	3	2	NR6A1	126340203	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.807000	0.27140	2.529000	0.85273	0.561000	0.74099	TTG	NR6A1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.582	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	C			127300382	-1	no_errors	ENST00000487099	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127300382	C	G	127300382	3	3	61	1	0	0	0	0	1	0	0	0	10661	825	29	1	649	1	NR6A1	9	127300382	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	24517391	127300382	13913049	153	9496										
SLC2A8	29988	genome.wustl.edu	37	chr9	130167187	130167187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctcctcgcacgtggccatctCggcgcctgtctctgcacagc	10	18	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:130167187C>T	ENST00000373371.3	+	8	1156	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	356					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S356L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GTGGCCATCTCGGCGCCTGTC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											69	64	66					9																	130167187		2203	4298	6501	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1067C>T	9.37:g.130167187C>T	ENSP00000362469:p.Ser356Leu		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.S356L	ENST00000373371.3	37	c.1067	CCDS6870.1	9	.	.	.	.	.	.	.	.	.	.	C	3.997	-0.003275	0.07773	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	D;T;D;T;D;T;T	0.88741	-1.63;-1.48;-2.39;0.54;-2.42;-1.36;-1.29	5.43	0.452	0.16634	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.704240	0.03143	N	0.166919	T	0.68403	0.2997	N	0.01482	-0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.66952	-0.5793	10	0.05525	T	0.97	.	4.7436	0.13026	0.1327:0.3124:0.0:0.5549	.	356;356	Q5VVV9;Q9NY64	.;GTR8_HUMAN	L	356;193;93;356;195;221;221;195	ENSP00000362469:S356L;ENSP00000392434:S193L;ENSP00000362450:S93L;ENSP00000362458:S356L;ENSP00000404893:S195L;ENSP00000389070:S221L;ENSP00000391213:S195L	ENSP00000362448:S221L	S	+	2	0	SLC2A8	129207008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-0.093000	0.12396	-0.302000	0.09304	TCG	SLC2A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.667	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1	C	NM_014580		130167187	1	no_errors	ENST00000373371	ensembl	human	known	70_37	missense	SNP	0.000	T	T	130167187	C	T	130167187	3	4	61	1	0	0	0	0	1	0	0	0	14581	893	31	1	1097	1	SLC2A8	9	130167187	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2866805	130167187	11046244	154	9497										
LRSAM1	90678	genome.wustl.edu	37	chr9	130259564	130259564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaagctggcctgcagcacgaGatcctccggagagtccagga	14	12	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:130259564G>C	ENST00000323301.4	+	23	2467	c.1863G>C	c.(1861-1863)gaG>gaC	p.E621D	LRSAM1_ENST00000300417.6_Missense_Mutation_p.E621D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E594D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E621D|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	621	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E621D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGCAGCACGAGATCCTCCGGA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											72	65	67					9																	130259564		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1863G>C	9.37:g.130259564G>C	ENSP00000322937:p.Glu621Asp		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E621D	ENST00000323301.4	37	c.1863	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514258	0.04200	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	4.89	1.44	0.22558	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.203153	0.45126	D	0.000393	T	0.72486	0.3466	L	0.43152	1.355	0.23144	N	0.998225	B;B	0.31655	0.152;0.334	B;B	0.31442	0.053;0.13	T	0.55114	-0.8191	10	0.11182	T	0.66	-3.2198	4.0606	0.09837	0.2492:0.3792:0.3716:0.0	.	594;621	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	621;594;621;621	ENSP00000300417:E621D;ENSP00000362421:E594D;ENSP00000322937:E621D;ENSP00000362419:E621D	ENSP00000300417:E621D	E	+	3	2	LRSAM1	129299385	0.908000	0.30866	0.903000	0.35520	0.124000	0.20399	0.101000	0.15251	0.430000	0.26230	-0.305000	0.09177	GAG	LRSAM1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.617	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130259564	1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.827	C	C	130259564	G	C	130259564	3	2	61	1	0	0	0	0	1	0	0	0	9066	933	33	1	1949	1	LRSAM1	9	130259564	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	92377	130259564	10953867	155	9498										
RPL7A	6130	genome.wustl.edu	37	chr9	136217463	136217463	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcttccagctggttgtcttCttgcctgccctgtgtcgtaa	9	12	3	0	rs587658264	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:136217463C>G	ENST00000323345.6	+	6	537	c.507C>G	c.(505-507)ttC>ttG	p.F169L	MED22_ENST00000476080.1_5'Flank|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000471524.1_5'Flank|SURF1_ENST00000495952.1_5'Flank|SNORD24_ENST00000383884.1_RNA|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.F54L|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000344469.5_5'Flank|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000343730.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	169					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F169L(1)		cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGGTTGTCTTCTTGCCTGCCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											88	77	81					9																	136217463		2203	4300	6503	SO:0001583	missense	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.507C>G	9.37:g.136217463C>G	ENSP00000361076:p.Phe169Leu		P11518|Q5T8U4	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.F169L	ENST00000323345.6	37	c.507	CCDS6965.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970942	0.74246	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.43688	0.94;0.94	5.47	4.57	0.56435	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.85777	2.775	0.58432	D	0.999998	B	0.32543	0.375	B	0.42995	0.404	T	0.62296	-0.6884	10	0.72032	D	0.01	.	12.9835	0.58577	0.0:0.9224:0.0:0.0776	.	169	P62424	RL7A_HUMAN	L	169;54	ENSP00000361076:F169L;ENSP00000361071:F54L	ENSP00000361071:F54L	F	+	3	2	RPL7A	135207284	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.336000	0.59304	1.302000	0.44855	0.655000	0.94253	TTC	RPL7A	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.463	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	C	NM_000972		136217463	1	no_errors	ENST00000323345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136217463	C	G	136217463	3	3	61	1	0	0	0	0	1	0	0	0	13630	912	32	1	529	1	RPL7A	9	136217463	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5957899	136217463	4995968	156	9499										
COL5A1	1289	genome.wustl.edu	37	chr9	137734054	137734054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agatcgacacccccaaagtgGagcaggtgcccatcgtggac	12	13	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:137734054G>A	ENST00000371817.3	+	66	5836	c.5422G>A	c.(5422-5424)Gag>Aag	p.E1808K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1808	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E1808K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCAAAGTGGAGCAGGTGCC	0.547																																																	1	Substitution - Missense(1)	cervix(1)											129	119	123					9																	137734054		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5422G>A	9.37:g.137734054G>A	ENSP00000360882:p.Glu1808Lys		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E1808K	ENST00000371817.3	37	c.5422	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912216	0.72983	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73575	-0.76	4.72	4.72	0.59763	Fibrillar collagen, C-terminal (4);	0.000000	0.64402	U	0.000002	T	0.77618	0.4157	M	0.81802	2.56	0.51482	D	0.999921	P	0.38280	0.625	B	0.38156	0.266	T	0.81125	-0.1075	10	0.51188	T	0.08	.	17.6595	0.88188	0.0:0.0:1.0:0.0	.	1808	P20908	CO5A1_HUMAN	K	1808;345	ENSP00000360882:E1808K	ENSP00000347458:E345K	E	+	1	0	COL5A1	136873875	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.588000	0.82629	2.174000	0.68829	0.563000	0.77884	GAG	COL5A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.547	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137734054	1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137734054	G	A	137734054	3	1	61	1	0	0	0	0	1	0	0	0	3701	1175	41	1	5684	1	COL5A1	9	137734054	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1516591	137734054	3479377	157	9500										
DCLRE1C	64421	genome.wustl.edu	37	chr10	14978589	14978589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gagagtcacaacaatctcttCcttctaaaaagaaaataaag	5	8	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:14978589C>T	ENST00000378278.2	-	5	347	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	DCLRE1C_ENST00000378249.1_Intron|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_Intron|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E104K|DCLRE1C_ENST00000357717.2_Intron			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	104					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E104K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACAATCTCTTCCTTCTAAAAA	0.353								Non-homologous end-joining																																									1	Substitution - Missense(1)	cervix(1)											24	27	26					10																	14978589		2200	4300	6500	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.310G>A	10.37:g.14978589C>T	ENSP00000367527:p.Glu104Lys		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.E104K	ENST00000378278.2	37	c.310	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.121633	0.94385	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.77620	-1.02;-1.11	5.07	5.07	0.68467	Beta-lactamase-like (1);	0.089036	0.85682	N	0.000000	T	0.80670	0.4667	L	0.48877	1.53	0.80722	D	1	B;P	0.42518	0.39;0.782	B;P	0.49226	0.284;0.603	T	0.82686	-0.0334	10	0.72032	D	0.01	.	18.8146	0.92072	0.0:1.0:0.0:0.0	.	104;104	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	K	104	ENSP00000367538:E104K;ENSP00000367527:E104K	ENSP00000367527:E104K	E	-	1	0	DCLRE1C	15018595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.254000	0.65457	2.496000	0.84212	0.655000	0.94253	GAA	DCLRE1C	-	NULL		0.353	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	C	NM_022487		14978589	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14978589	C	T	14978589	3	4	61	1	0	0	0	0	1	0	0	0	4301	864	30	1	1808	1	DCLRE1C	10	14978589	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		14978589	120556158	158	9501										
CCDC7	79741	genome.wustl.edu	37	chr10	32854533	32854533	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaagtccttcaggagcaattGaaacaggctttacaggtaaa	9	7	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:32854533G>A	ENST00000362006.5	+	15	1725	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	CCDC7_ENST00000277657.6_Silent_p.L394L|C10orf68_ENST00000375028.3_5'Flank|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'Flank	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	394								p.L394L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGGAGCAATTGAAACAGGCTT	0.303																																																	1	Substitution - coding silent(1)	cervix(1)											47	46	46					10																	32854533		2203	4299	6502	SO:0001819	synonymous_variant	79741			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1182G>A	10.37:g.32854533G>A			Q5VW55|Q8IVQ0|Q8NEQ0	Silent	SNP	NULL	p.L394	ENST00000362006.5	37	c.1182	CCDS7173.1	10																																																																																			CCDC7	-	NULL		0.303	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	G	NM_145023		32854533	1	no_errors	ENST00000277657	ensembl	human	known	70_37	silent	SNP	0.612	A	A	32854533	G	A	32854533	2	1	61	1	0	0	0	0	0	0	0	1	2847	1281	45	1		1	CCDC7	10	32854533	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	17875944	32854533	102680214	159	9502										
RASGEF1A	221002	genome.wustl.edu	37	chr10	43696186	43696186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gcccaggatgtccttctgggCggctggtggcttggtcttga	16	10	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:43696186C>T	ENST00000395809.1	-	5	3116	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A212T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A204T|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	204					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A151T(1)|p.A204T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCTTCTGGGCGGCTGGTGGC	0.652																																																	2	Substitution - Missense(2)	cervix(2)											63	55	57					10																	43696186		2203	4300	6503	SO:0001583	missense	221002			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.610G>A	10.37:g.43696186C>T	ENSP00000379154:p.Ala204Thr		Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A204T	ENST00000395809.1	37	c.610	CCDS7202.2	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.182|8.182	0.794046|0.794046	0.16327|0.16327	.|.	.|.	ENSG00000198915|ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809|ENST00000374455	T;T;T|.	0.28454|.	1.61;1.61;1.61|.	5.04|5.04	0.319|0.319	0.15873|0.15873	Ras guanine nucleotide exchange factor, domain (1);|.	0.475212|.	0.20905|.	N|.	0.083579|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.0;0.005|.	B;B|.	0.08055|.	0.001;0.003|.	T|T	0.25082|0.25082	-1.0142|-1.0142	10|5	0.14252|.	T|.	0.57|.	.|.	0.5568|0.5568	0.00672|0.00672	0.2622:0.3214:0.1291:0.2872|0.2622:0.3214:0.1291:0.2872	.|.	204;212|.	Q8N9B8;Q8N9B8-2|.	RGF1A_HUMAN;.|.	T|H	212;204;204|105	ENSP00000363583:A212T;ENSP00000379155:A204T;ENSP00000379154:A204T|.	ENSP00000363583:A212T|.	A|R	-|-	1|2	0|0	RASGEF1A|RASGEF1A	43016192|43016192	0.000000|0.000000	0.05858|0.05858	0.081000|0.081000	0.20488|0.20488	0.790000|0.790000	0.44656|0.44656	-0.299000|-0.299000	0.08254|0.08254	0.052000|0.052000	0.16007|0.16007	0.455000|0.455000	0.32223|0.32223	GCC|CGC	RASGEF1A	-	superfamily_Ras_GEF_dom		0.652	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	C	NM_145313		43696186	-1	no_errors	ENST00000395809	ensembl	human	known	70_37	missense	SNP	0.001	T	T	43696186	C	T	43696186	3	4	61	1	0	0	0	0	1	0	0	0	13099	768	27	2	871	2	RASGEF1A	10	43696186	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	10841653	43696186	91838561	160	9503										
ALOX5	240	genome.wustl.edu	37	chr10	45878011	45878011	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gagaagcgcaagtactggctGaatgacgactggtacctgaa	13	8	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:45878011G>A	ENST00000374391.2	+	2	284	c.231G>A	c.(229-231)ctG>ctA	p.L77L	ALOX5_ENST00000542434.1_Silent_p.L77L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	77	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.L77L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AGTACTGGCTGAATGACGACT	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											154	114	127					10																	45878011		2203	4300	6503	SO:0001819	synonymous_variant	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.231G>A	10.37:g.45878011G>A			B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.L77	ENST00000374391.2	37	c.231	CCDS7212.1	10																																																																																			ALOX5	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml		0.567	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	G			45878011	1	no_errors	ENST00000374391	ensembl	human	known	70_37	silent	SNP	0.093	A	A	45878011	G	A	45878011	2	1	61	1	0	0	0	0	0	0	0	1	540	1277	45	1		1	ALOX5	10	45878011	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2181825	45878011	89656736	161	9504										
CCAR1	55749	genome.wustl.edu	37	chr10	70547683	70547683	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtttacttgcatgcataacaGgtaaagaagcttcttaataa	7	6	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:70547683G>A	ENST00000265872.6	+	22	2999		c.e22-1		CCAR1_ENST00000535016.1_Splice_Site|CCAR1_ENST00000543719.1_Splice_Site	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATGCATAACAGGTAAAGAAGC	0.323																																																	1	Unknown(1)	cervix(1)											73	74	74					10																	70547683		2203	4300	6503	SO:0001630	splice_region_variant	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2881-1G>A	10.37:g.70547683G>A			A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Splice_Site	SNP	-	e21-1	ENST00000265872.6	37	c.2881-1	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269544	0.59540	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543706	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8867	0.92381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCAR1	70217689	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	9.381000	0.97205	2.516000	0.84829	0.563000	0.77884	.	CCAR1	-	-		0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237	Intron	70547683	1	no_errors	ENST00000265872	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	70547683	G	A	70547683	5	1	61	1	0	0	0	0	0	0	1	0	2735	1014	35	4	2962	4	CCAR1	10	70547683	Splice_Site	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	24669672	70547683	64987064	162	9505										
SGPL1	8879	genome.wustl.edu	37	chr10	72633330	72633330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aacagatcatcaaaactgctCgcttcctcaagtcagagtat	6	11	4	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:72633330C>T	ENST00000373202.3	+	12	1482	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	428					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.R428C(1)		large_intestine(4)	4						CAAAACTGCTCGCTTCCTCAA	0.512																																					Colon(151;1054 2458 6676 40971)												1	Substitution - Missense(1)	cervix(1)											136	123	128					10																	72633330		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1282C>T	10.37:g.72633330C>T	ENSP00000362298:p.Arg428Cys		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R428C	ENST00000373202.3	37	c.1282	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956994	0.92726	.	.	ENSG00000166224	ENST00000373202	T	0.38240	1.15	5.64	5.64	0.86602	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.75187	-0.3406	10	0.72032	D	0.01	-12.8179	19.6991	0.96045	0.0:1.0:0.0:0.0	.	428	O95470	SGPL1_HUMAN	C	428	ENSP00000362298:R428C	ENSP00000362298:R428C	R	+	1	0	SGPL1	72303336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.626000	0.67777	2.646000	0.89796	0.591000	0.81541	CGC	SGPL1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.512	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	C	NM_003901		72633330	1	no_errors	ENST00000373202	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72633330	C	T	72633330	3	4	61	1	0	0	0	0	1	0	0	0	14248	884	31	1	1324	1	SGPL1	10	72633330	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2085647	72633330	62901417	163	9506										
CH25H	9023	genome.wustl.edu	37	chr10	90967017	90967017	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agctgcccggagctgcaaagGacctgggggtcggagcagtt	17	10	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:90967017G>A	ENST00000371852.2	-	1	54	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	11					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGCTGCAAAGGACCTGGGGGT	0.632																																																	0													14	17	16					10																	90967017		2200	4298	6498	SO:0001819	synonymous_variant	9023			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"Fatty acid hydroxylase domain containing"	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.33C>T	10.37:g.90967017G>A			B2RBY3	Silent	SNP	pfam_Fatty_acid_hydroxylase	p.V11	ENST00000371852.2	37	c.33	CCDS7400.1	10																																																																																			CH25H	-	NULL		0.632	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CH25H	HGNC	protein_coding	OTTHUMT00000049291.1	G	NM_003956		90967017	-1	no_errors	ENST00000371852	ensembl	human	known	70_37	silent	SNP	0.000	A	A	90967017	G	A	90967017	2	1	61	1	0	0	0	0	0	0	0	1	3312	1161	41	1		1	CH25H	10	90967017	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	18333687	90967017	44567730	164	9507										
GBF1	8729	genome.wustl.edu	37	chr10	104139678	104139678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gatgtgggtgggatggaggaGacccggatgagggcttccac	19	7	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:104139678G>A	ENST00000369983.3	+	36	5102	c.4842G>A	c.(4840-4842)gaG>gaA	p.E1614E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1614					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1614E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGATGGAGGAGACCCGGATGA	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											96	89	91					10																	104139678		2203	4300	6503	SO:0001819	synonymous_variant	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4842G>A	10.37:g.104139678G>A			Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1614	ENST00000369983.3	37	c.4842	CCDS7533.1	10																																																																																			GBF1	-	NULL		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104139678	1	no_errors	ENST00000369983	ensembl	human	known	70_37	silent	SNP	1.000	A	A	104139678	G	A	104139678	2	1	61	1	0	0	0	0	0	0	0	1	6290	933	33	1		1	GBF1	10	104139678	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	13172661	104139678	31395069	165	9508										
DCLRE1A	9937	genome.wustl.edu	37	chr10	115602142	115602142	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccaatagagtaagtgccacaGacaacaagagcatgtgggtt	11	8	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:115602142G>A	ENST00000361384.2	-	6	3542	c.2625C>T	c.(2623-2625)gtC>gtT	p.V875V	DCLRE1A_ENST00000369305.1_Silent_p.V875V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	875					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.V875V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAGTGCCACAGACAACAAGAG	0.393								Other identified genes with known or suspected DNA repair function																																									1	Substitution - coding silent(1)	cervix(1)											189	175	180					10																	115602142		2203	4300	6503	SO:0001819	synonymous_variant	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2625C>T	10.37:g.115602142G>A			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.V875	ENST00000361384.2	37	c.2625	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL		0.393	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	G	NM_014881		115602142	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	silent	SNP	1.000	A	A	115602142	G	A	115602142	2	1	61	1	0	0	0	0	0	0	0	1	4299	929	33	1		1	DCLRE1A	10	115602142	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11462464	115602142	19932605	166	9509										
DMBT1	1755	genome.wustl.edu	37	chr10	124345695	124345695	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atgacagctgggacaccaatGatgccaatgtggtctgcagg	13	9	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:124345695G>T	ENST00000338354.3	+	16	1685	c.1579G>T	c.(1579-1581)Gat>Tat	p.D527Y	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.D517Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D527Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)												3	Substitution - Missense(3)	cervix(3)											293	225	248					10																	124345695		2062	4180	6242	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1579G>T	10.37:g.124345695G>T	ENSP00000342210:p.Asp527Tyr		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.D527Y	ENST00000338354.3	37	c.1579		10	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621447	0.46736	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.5	4.5	0.54988	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.77718	0.4172	H	0.99525	4.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.88887	0.3343	9	0.87932	D	0	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	527;517;527	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Y	527;527;527;527;527;527;517;527;517	ENSP00000342210:D527Y;ENSP00000343175:D517Y;ENSP00000357905:D527Y;ENSP00000357951:D517Y	ENSP00000342210:D527Y	D	+	1	0	DMBT1	124335685	1.000000	0.71417	0.043000	0.18650	0.790000	0.44656	6.170000	0.71920	2.067000	0.61834	0.456000	0.33151	GAT	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124345695	1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.998	T	T	124345695	G	T	124345695	3	4	61	1	0	0	0	0	1	0	0	0	4587	1290	45	3	1641	3	DMBT1	10	124345695	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8743553	124345695	11189052	167	9510										
TCERG1L	256536	genome.wustl.edu	37	chr10	133106525	133106525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggggagcggcctggaggcagGagccggcctggacagagaca	20	10	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:133106525G>A	ENST00000368642.4	-	3	704	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	207								p.P166S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGGAGGCAGGAGCCGGCCTG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											57	55	56					10																	133106525		2203	4300	6503	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.619C>T	10.37:g.133106525G>A	ENSP00000357631:p.Pro207Ser		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P207S	ENST00000368642.4	37	c.619	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687216	0.29962	.	.	ENSG00000176769	ENST00000368642	T	0.25414	1.8	5.39	4.47	0.54385	.	0.227351	0.30383	N	0.009752	T	0.23965	0.0580	L	0.47716	1.5	0.29716	N	0.839028	P	0.48407	0.91	B	0.42462	0.388	T	0.13442	-1.0509	10	0.51188	T	0.08	-1.921	9.9601	0.41691	0.0:0.151:0.6925:0.1566	.	207	Q5VWI1	TCRGL_HUMAN	S	207	ENSP00000357631:P207S	ENSP00000357631:P207S	P	-	1	0	TCERG1L	132996515	0.996000	0.38824	0.049000	0.19019	0.451000	0.32288	0.957000	0.29215	1.257000	0.44085	0.467000	0.42956	CCT	TCERG1L	-	NULL		0.517	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	G	NM_174937		133106525	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	0.579	A	A	133106525	G	A	133106525	3	1	61	1	0	0	0	0	1	0	0	0	15716	1174	41	1	1181	1	TCERG1L	10	133106525	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8760830	133106525	2428222	168	9511										
ZNF511	118472	genome.wustl.edu	37	chr10	135125334	135125334	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccggcaggtgagaggcggatCtacagacataggtcagtgtc	15	9	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:135125334C>A	ENST00000359035.3	+	5	672	c.669C>A	c.(667-669)atC>atA	p.I223I	ZNF511_ENST00000368554.4_Silent_p.I158I|ZNF511_ENST00000463816.2_3'UTR|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000361518.5_Silent_p.I223I|TUBGCP2_ENST00000417178.2_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	223					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.I223I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AGAGGCGGATCTACAGACATA	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											75	79	77					10																	135125334		2203	4300	6503	SO:0001819	synonymous_variant	118472			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.669C>A	10.37:g.135125334C>A			A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	smart_Znf_C2H2-like	p.I158	ENST00000359035.3	37	c.474		10																																																																																			ZNF511	-	NULL		0.592	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	C	NM_145806		135125334	1	no_errors	ENST00000368554	ensembl	human	known	70_37	silent	SNP	0.012	A	A	135125334	C	A	135125334	2	1	61	1	0	0	0	0	0	0	0	1	17985	903	32	3		3	ZNF511	10	135125334	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2018809	135125334	409413	169	9512										
LMO1	4004	genome.wustl.edu	37	chr11	8246193	8246193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgggattcaaaggtgccattGagctgcccttcctcatagtc	10	11	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:8246193G>A	ENST00000335790.3	-	4	936	c.441C>T	c.(439-441)ctC>ctT	p.L147L	LMO1_ENST00000428101.2_Silent_p.L146L|LMO1_ENST00000534484.1_Silent_p.L136L	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	147	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L208L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AGGTGCCATTGAGCTGCCCTT	0.552			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	1	Substitution - coding silent(1)	cervix(1)											70	71	70					11																	8246193		1955	4155	6110	SO:0001819	synonymous_variant	4004			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.441C>T	11.37:g.8246193G>A			E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L147	ENST00000335790.3	37	c.441	CCDS44534.1	11																																																																																			LMO1	-	pfscan_Znf_LIM		0.552	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	G	NM_002315		8246193	-1	no_errors	ENST00000335790	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8246193	G	A	8246193	2	1	61	1	0	0	0	0	0	0	0	1	8872	1277	45	1		1	LMO1	11	8246193	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08		8246193	126760323	170	9513										
IGSF22	283284	genome.wustl.edu	37	chr11	18736049	18736049	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctggcctctgcttcagacctCcttgccatccttcagccaca	6	18	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:18736049C>G	ENST00000513874.1	-	12	1793	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	552								p.E552Q(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTCAGACCTCCTTGCCATCC	0.622																																																	2	Substitution - Missense(2)	cervix(2)											133	146	141					11																	18736049		2150	4232	6382	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1654G>C	11.37:g.18736049C>G	ENSP00000421191:p.Glu552Gln		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E552Q	ENST00000513874.1	37	c.1654	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879715	0.51801	.	.	ENSG00000179057	ENST00000513874	T	0.46063	0.88	4.54	2.61	0.31194	.	0.188081	0.25648	N	0.029228	T	0.42765	0.1217	L	0.58510	1.815	0.23215	N	0.998108	D	0.63880	0.993	P	0.52957	0.714	T	0.23940	-1.0174	10	0.28530	T	0.3	.	4.2004	0.10464	0.161:0.5931:0.1563:0.0896	.	552	D6RGV7	.	Q	552	ENSP00000421191:E552Q	ENSP00000322422:E552Q	E	-	1	0	IGSF22	18692625	0.998000	0.40836	0.879000	0.34478	0.860000	0.49131	0.786000	0.26844	0.341000	0.23771	0.551000	0.68910	GAG	IGSF22	-	smart_Ig_sub,smart_Ig_sub2		0.622	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	C	NM_173588		18736049	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.999	G	G	18736049	C	G	18736049	3	3	61	1	0	0	0	0	1	0	0	0	7620	864	30	1	2374	1	IGSF22	11	18736049	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	10489856	18736049	116270467	171	9514										
C11orf46	120534	genome.wustl.edu	37	chr11	30352607	30352607	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgcaagaattgtcatcaaatGatatgcttttacttcaactt	5	7	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:30352607G>C	ENST00000282032.3	+	2	327	c.112G>C	c.(112-114)Gat>Cat	p.D38H		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	38						cytoplasm (GO:0005737)		p.D38H(1)									GTCATCAAATGATATGCTTTT	0.343																																																	1	Substitution - Missense(1)	cervix(1)											91	84	87					11																	30352607		2202	4299	6501	SO:0001583	missense	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.112G>C	11.37:g.30352607G>C	ENSP00000282032:p.Asp38His		Q5HYH9	Missense_Mutation	SNP	NULL	p.D38H	ENST00000282032.3	37	c.112	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205950	0.58234	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.69806	-0.43	5.56	5.56	0.83823	.	0.236330	0.43110	D	0.000604	T	0.77025	0.4070	L	0.43152	1.355	0.44780	D	0.997787	D	0.76494	0.999	D	0.72982	0.979	T	0.78411	-0.2214	10	0.72032	D	0.01	-20.0146	17.7137	0.88330	0.0:0.0:1.0:0.0	.	38	Q8N8R7	CK046_HUMAN	H	38	ENSP00000282032:D38H	ENSP00000282032:D38H	D	+	1	0	C11orf46	30309183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.515000	0.73751	2.626000	0.88956	0.650000	0.86243	GAT	ARL14EP	-	NULL		0.343	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	G	NM_152316		30352607	1	no_errors	ENST00000282032	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30352607	G	C	30352607	3	2	61	1	0	0	0	0	1	0	0	0	1647	1290	45	1	114	1	C11orf46	11	30352607	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11616558	30352607	104653909	172	9515										
CKAP5	9793	genome.wustl.edu	37	chr11	46780913	46780913	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gactgtaccattgtcattctCaatctcatctagatccagct	5	12	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46780913C>G	ENST00000529230.1	-	34	4520	c.4474G>C	c.(4474-4476)Gag>Cag	p.E1492Q	CKAP5_ENST00000415402.1_Missense_Mutation_p.E1492Q|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1492Q|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1492Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1492					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.E1492Q(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGTCATTCTCAATCTCATCT	0.498																																					Ovarian(4;85 273 2202 4844 13323)												1	Substitution - Missense(1)	cervix(1)											155	145	148					11																	46780913		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4474G>C	11.37:g.46780913C>G	ENSP00000432768:p.Glu1492Gln		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E1492Q	ENST00000529230.1	37	c.4474	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822036|3.822036	0.71028|0.71028	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.044760|.	0.85682|.	N|.	0.000000|.	T|.	0.65165|.	0.2665|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.996;0.993|.	D;D;D|.	0.78314|.	0.973;0.991;0.979|.	T|.	0.58999|.	-0.7536|.	10|.	0.17369|.	T|.	0.5|.	-3.1971|-3.1971	19.8389|19.8389	0.96675|0.96675	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1492;1492;1492|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	Q|S	1492;1492;1492;1492;223|48	ENSP00000432768:E1492Q;ENSP00000395302:E1492Q;ENSP00000310227:E1492Q;ENSP00000346566:E1492Q|.	ENSP00000310227:E1492Q|.	E|X	-|-	1|2	0|2	CKAP5|CKAP5	46737489|46737489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.568000|7.568000	0.82369|0.82369	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GAG|TGA	CKAP5	-	superfamily_ARM-type_fold		0.498	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	C	NM_014756		46780913	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46780913	C	G	46780913	3	3	61	1	0	0	0	0	1	0	0	0	3450	835	29	1	1668	1	CKAP5	11	46780913	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	16428306	46780913	88225603	173	9516										
CKAP5	9793	genome.wustl.edu	37	chr11	46784554	46784554	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caagataggggatgaaggaaGatgcttcattctcagtaaga	12	5	2	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46784554G>C	ENST00000529230.1	-	30	3909	c.3863C>G	c.(3862-3864)tCt>tGt	p.S1288C	CKAP5_ENST00000415402.1_Missense_Mutation_p.S1288C|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000312055.5_Missense_Mutation_p.S1288C|CKAP5_ENST00000354558.3_Missense_Mutation_p.S1288C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1288					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.S1288C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GATGAAGGAAGATGCTTCATT	0.408																																					Ovarian(4;85 273 2202 4844 13323)												1	Substitution - Missense(1)	cervix(1)											138	129	132					11																	46784554		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3863C>G	11.37:g.46784554G>C	ENSP00000432768:p.Ser1288Cys		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1288C	ENST00000529230.1	37	c.3863	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242188	0.58995	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.252507	0.46442	D	0.000286	T	0.57257	0.2041	M	0.75777	2.31	0.44234	D	0.997074	P;P;P	0.49696	0.739;0.91;0.927	P;B;P	0.49887	0.625;0.421;0.557	T	0.59873	-0.7372	10	0.54805	T	0.06	-4.6002	19.8052	0.96529	0.0:0.0:1.0:0.0	.	1288;1288;1288	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	C	1288;1288;1288;1288;11	ENSP00000432768:S1288C;ENSP00000395302:S1288C;ENSP00000310227:S1288C;ENSP00000346566:S1288C	ENSP00000310227:S1288C	S	-	2	0	CKAP5	46741130	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.283000	0.65621	2.692000	0.91855	0.650000	0.86243	TCT	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46784554	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	0.882	C	C	46784554	G	C	46784554	3	2	61	1	0	0	0	0	1	0	0	0	3450	942	33	1	2295	1	CKAP5	11	46784554	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3641	46784554	88221962	174	9517										
CKAP5	9793	genome.wustl.edu	37	chr11	46784576	46784576	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgcttcattctcagtaagatGatattcttcttcacttagca	5	9	5	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46784576G>A	ENST00000529230.1	-	30	3887	c.3841C>T	c.(3841-3843)Cat>Tat	p.H1281Y	CKAP5_ENST00000415402.1_Missense_Mutation_p.H1281Y|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000312055.5_Missense_Mutation_p.H1281Y|CKAP5_ENST00000354558.3_Missense_Mutation_p.H1281Y			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1281					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.H1281Y(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAGTAAGATGATATTCTTCT	0.423																																					Ovarian(4;85 273 2202 4844 13323)												1	Substitution - Missense(1)	cervix(1)											151	147	148					11																	46784576		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3841C>T	11.37:g.46784576G>A	ENSP00000432768:p.His1281Tyr		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H1281Y	ENST00000529230.1	37	c.3841	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930809	0.73327	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.042041	0.85682	D	0.000000	T	0.49626	0.1568	L	0.48642	1.525	0.58432	D	0.999995	D;P;P	0.57899	0.981;0.886;0.906	P;B;P	0.50490	0.642;0.359;0.492	T	0.37731	-0.9693	10	0.39692	T	0.17	-6.8846	19.8052	0.96529	0.0:0.0:1.0:0.0	.	1281;1281;1281	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	Y	1281;1281;1281;1281;4	ENSP00000432768:H1281Y;ENSP00000395302:H1281Y;ENSP00000310227:H1281Y;ENSP00000346566:H1281Y	ENSP00000310227:H1281Y	H	-	1	0	CKAP5	46741152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	2.692000	0.91855	0.650000	0.86243	CAT	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46784576	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46784576	G	A	46784576	3	1	61	1	0	0	0	0	1	0	0	0	3450	1290	45	1	2317	1	CKAP5	11	46784576	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	22	46784576	88221940	175	9518										
OR4C16	219428	genome.wustl.edu	37	chr11	55340452	55340452	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acatcttttctcaaccctgtGatttacacgctgaagaatac	5	11	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:55340452G>A	ENST00000314634.3	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V283V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAACCCTGTGATTTACACGC	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											70	66	67					11																	55340452		2201	4296	6497	SO:0001819	synonymous_variant	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.849G>A	11.37:g.55340452G>A			Q6IEV8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V283	ENST00000314634.3	37	c.849	CCDS31502.1	11																																																																																			OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.378	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	G	NM_001004701		55340452	1	no_errors	ENST00000314634	ensembl	human	known	70_37	silent	SNP	0.374	A	A	55340452	G	A	55340452	2	1	61	1	0	0	0	0	0	0	0	1	11073	1277	45	1		1	OR4C16	11	55340452	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8555876	55340452	79666064	176	9519										
OR4C6	219432	genome.wustl.edu	37	chr11	55432918	55432918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aagagcactaccatctctctCaaaggctgcctcacccagct	6	16	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:55432918C>T	ENST00000314259.3	+	1	305	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L92L(2)|p.L92P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCATCTCTCTCAAAGGCTGCC	0.502																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|cervix(1)											140	126	131					11																	55432918		2200	4296	6496	SO:0001819	synonymous_variant	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.276C>T	11.37:g.55432918C>T			B2RP11|Q6IFD2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L92	ENST00000314259.3	37	c.276	CCDS31506.1	11																																																																																			OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	C	NM_001004704		55432918	1	no_errors	ENST00000314259	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55432918	C	T	55432918	2	4	61	1	0	0	0	0	0	0	0	1	11076	813	29	1		1	OR4C6	11	55432918	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	92466	55432918	79573598	177	9520										
OR9Q1	219956	genome.wustl.edu	37	chr11	57947066	57947066	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gagatgattattctgatcctCatggatcaccagctccacgc	8	12	3	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:57947066C>T	ENST00000335397.3	+	3	466	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTCTGATCCTCATGGATCACC	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											260	239	246					11																	57947066		2201	4296	6497	SO:0001819	synonymous_variant	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.150C>T	11.37:g.57947066C>T			Q2TAN3|Q96RA7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L50	ENST00000335397.3	37	c.150	CCDS31543.1	11																																																																																			OR9Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q1	HGNC	protein_coding	OTTHUMT00000394538.2	C	NM_001005212		57947066	1	no_errors	ENST00000335397	ensembl	human	known	70_37	silent	SNP	0.000	T	T	57947066	C	T	57947066	2	4	61	1	0	0	0	0	0	0	0	1	11279	813	29	1		1	OR9Q1	11	57947066	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2514148	57947066	77059450	178	9521										
KRTAP5-8	57830	genome.wustl.edu	37	chr11	71249659	71249659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccaatttgctgccagtgcaaGatctgaggctctgcctacaa	9	12	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:71249659G>C	ENST00000398534.3	+	1	589	c.558G>C	c.(556-558)aaG>aaC	p.K186N		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	186						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.K186N(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCCAGTGCAAGATCTGAGGCT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											122	129	127					11																	71249659		2200	4294	6494	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.558G>C	11.37:g.71249659G>C	ENSP00000420723:p.Lys186Asn		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	NULL	p.K186N	ENST00000398534.3	37	c.558	CCDS41683.1	11	.	.	.	.	.	.	.	.	.	.	-	13.28	2.189746	0.38707	.	.	ENSG00000241233	ENST00000398534	T	0.01484	4.84	1.77	0.823	0.18812	.	.	.	.	.	T	0.07458	0.0188	M	0.84082	2.675	0.23802	N	0.996808	D	0.55172	0.97	P	0.60173	0.87	T	0.13150	-1.0520	9	0.87932	D	0	.	6.3146	0.21184	0.1758:0.0:0.8242:0.0	.	186	O75690	KRA58_HUMAN	N	186	ENSP00000420723:K186N	ENSP00000420723:K186N	K	+	3	2	KRTAP5-8	70927307	0.890000	0.30428	0.976000	0.42696	0.530000	0.34684	0.422000	0.21296	0.304000	0.22809	-0.140000	0.14226	AAG	KRTAP5-8	-	NULL		0.557	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-8	HGNC	protein_coding	OTTHUMT00000127954.1	G	NM_021046		71249659	1	no_errors	ENST00000398534	ensembl	human	known	70_37	missense	SNP	0.995	C	C	71249659	G	C	71249659	3	2	61	1	0	0	0	0	1	0	0	0	8587	933	33	1	560	1	KRTAP5-8	11	71249659	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	13302593	71249659	63756857	179	9522										
INTS4	92105	genome.wustl.edu	37	chr11	77590061	77590061	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgaagggaatggtgccctcGatgctggtttccacctgtgg	14	10	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:77590061G>A	ENST00000534064.1	-	23	2860	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.I317I|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	942					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.I942I(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGTGCCCTCGATGCTGGTTT	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											162	151	155					11																	77590061		2200	4292	6492	SO:0001819	synonymous_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2826C>T	11.37:g.77590061G>A			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.I942	ENST00000534064.1	37	c.2826	CCDS31644.1	11																																																																																			INTS4	-	NULL		0.537	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77590061	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	silent	SNP	0.943	A	A	77590061	G	A	77590061	2	1	61	1	0	0	0	0	0	0	0	1	7800	1048	37	1		1	INTS4	11	77590061	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6340402	77590061	57416455	180	9523										
INTS4	92105	genome.wustl.edu	37	chr11	77614602	77614602	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttacctgtttcgctgctgctGaggccaaatcactctgcttc	8	13	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:77614602G>A	ENST00000534064.1	-	17	2115	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.S69L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	694					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.S694L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCTGCTGCTGAGGCCAAATC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											66	57	60					11																	77614602		2200	4292	6492	SO:0001583	missense	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2081C>T	11.37:g.77614602G>A	ENSP00000434466:p.Ser694Leu		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.S694L	ENST00000534064.1	37	c.2081	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790414	0.50102	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.41	3.5	0.40072	.	0.134476	0.51477	D	0.000090	T	0.44180	0.1281	L	0.34521	1.04	0.46131	D	0.998885	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.24483	T	0.36	-10.3752	12.4251	0.55542	0.0829:0.0:0.9171:0.0	.	694	Q96HW7	INT4_HUMAN	L	694;69	.	ENSP00000434466:S694L	S	-	2	0	INTS4	77292250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.151000	0.71806	1.217000	0.43442	0.585000	0.79938	TCA	INTS4	-	NULL		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77614602	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77614602	G	A	77614602	3	1	61	1	0	0	0	0	1	0	0	0	7800	1294	45	1	838	1	INTS4	11	77614602	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	24541	77614602	57391914	181	9524										
PCF11	51585	genome.wustl.edu	37	chr11	82880510	82880510	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggtttgatgggcagccaggtCagccgtcactcttgccaaga	13	11	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:82880510C>T	ENST00000298281.4	+	8	3585	c.3133C>T	c.(3133-3135)Cag>Tag	p.Q1045*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1045	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.Q1144*(1)|p.Q1045*(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAGCCAGGTCAGCCGTCACT	0.517																																																	2	Substitution - Nonsense(2)	cervix(2)											72	71	71					11																	82880510		2003	4169	6172	SO:0001587	stop_gained	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3133C>T	11.37:g.82880510C>T	ENSP00000298281:p.Gln1045*		A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.Q1045*	ENST00000298281.4	37	c.3133	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	C	44	11.151053	0.99523	.	.	ENSG00000165494	ENST00000298281	.	.	.	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2705	20.3811	0.98930	0.0:1.0:0.0:0.0	.	.	.	.	X	1045	.	.	Q	+	1	0	PCF11	82558158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.397000	0.73239	2.821000	0.97095	0.650000	0.86243	CAG	PCF11	-	NULL		0.517	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	C	NM_015885		82880510	1	no_errors	ENST00000298281	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	82880510	C	T	82880510	4	4	61	1	0	0	0	0	0	1	0	0	11597	827	29	1	3163	1	PCF11	11	82880510	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5265908	82880510	52126006	182	9525										
MRE11A	4361	genome.wustl.edu	37	chr11	94192676	94192676	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aattcctcaatggcatctttCtcctccttgtccacaaattc	3	14	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:94192676C>T	ENST00000323929.3	-	13	1620	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E	MRE11A_ENST00000393241.4_Silent_p.E466E|MRE11A_ENST00000407439.3_Silent_p.E469E|MRE11A_ENST00000323977.3_Silent_p.E466E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	466					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E466E(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TGGCATCTTTCTCCTCCTTGT	0.413								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								2	Substitution - coding silent(2)	cervix(2)											195	177	183					11																	94192676		2201	4298	6499	SO:0001819	synonymous_variant	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1398G>A	11.37:g.94192676C>T			O43475	Silent	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.E466	ENST00000323929.3	37	c.1398	CCDS8299.1	11																																																																																			MRE11A	-	pirsf_DNA_repair_Mre11		0.413	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	C	NM_005591		94192676	-1	no_errors	ENST00000323929	ensembl	human	known	70_37	silent	SNP	0.965	T	T	94192676	C	T	94192676	2	4	61	1	0	0	0	0	0	0	0	1	9782	912	32	1		1	MRE11A	11	94192676	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	11312166	94192676	40813840	183	9526										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103026188	103026188	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctactgtttggtgatttgctCagagtagctgatacaattgt	10	6	1	3	rs372764245		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:103026188C>G	ENST00000375735.2	+	25	3846	c.3702C>G	c.(3700-3702)ctC>ctG	p.L1234L	DYNC2H1_ENST00000398093.3_Silent_p.L1234L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1234	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTGATTTGCTCAGAGTAGCTG	0.408																																																	0													73	72	72					11																	103026188		1823	4080	5903	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3702C>G	11.37:g.103026188C>G			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1234	ENST00000375735.2	37	c.3702	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom-2		0.408	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103026188	1	no_errors	ENST00000398093	ensembl	human	known	70_37	silent	SNP	0.998	G	G	103026188	C	G	103026188	2	3	61	1	0	0	0	0	0	0	0	1	4856	813	29	1		1	DYNC2H1	11	103026188	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	8833512	103026188	31980328	184	9527										
USP28	57646	genome.wustl.edu	37	chr11	113698046	113698046	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaactcaaatcttgagagttCaaaggtcaacactggaggta	9	7	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:113698046C>T	ENST00000003302.4	-	11	1164	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	USP28_ENST00000260188.5_Missense_Mutation_p.E366K|USP28_ENST00000545540.1_Missense_Mutation_p.E241K|USP28_ENST00000537706.1_Missense_Mutation_p.E366K|USP28_ENST00000544967.1_Missense_Mutation_p.E74K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	366	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E366K(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTGAGAGTTCAAAGGTCAAC	0.363																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - Missense(1)	cervix(1)											71	72	72					11																	113698046		2201	4296	6497	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1096G>A	11.37:g.113698046C>T	ENSP00000003302:p.Glu366Lys		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.E366K	ENST00000003302.4	37	c.1096	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.294516	0.95546	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.73789	1.54;1.54;1.54;1.54;1.54;-0.78	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.992;0.998	D	0.87595	0.2493	10	0.72032	D	0.01	-18.9332	18.4742	0.90786	0.0:1.0:0.0:0.0	.	241;366;366;74	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	K	366;366;74;241;130;366	ENSP00000003302:E366K;ENSP00000260188:E366K;ENSP00000442431:E74K;ENSP00000444991:E241K;ENSP00000442257:E130K;ENSP00000445743:E366K	ENSP00000003302:E366K	E	-	1	0	USP28	113203256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.649000	0.89929	0.563000	0.77884	GAA	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.363	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	C			113698046	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113698046	C	T	113698046	3	4	61	1	0	0	0	0	1	0	0	0	17089	835	29	1	2197	1	USP28	11	113698046	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	10671858	113698046	21308470	185	9528										
SORL1	6653	genome.wustl.edu	37	chr11	121491799	121491799	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gcagttgcagtcaaagatctCataagaaagactgacaggag	11	7	2	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:121491799C>G	ENST00000260197.7	+	44	6045	c.5916C>G	c.(5914-5916)ctC>ctG	p.L1972L	SORL1_ENST00000534286.1_Silent_p.L882L|SORL1_ENST00000525532.1_Silent_p.L916L|SORL1_ENST00000532694.1_Silent_p.L818L|SORL1_ENST00000527934.1_Silent_p.L587L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1972	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.L1972L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCAAAGATCTCATAAGAAAGA	0.398																																																	1	Substitution - coding silent(1)	cervix(1)											96	89	91					11																	121491799		2202	4299	6501	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5916C>G	11.37:g.121491799C>G			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L1972	ENST00000260197.7	37	c.5916	CCDS8436.1	11																																																																																			SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121491799	1	no_errors	ENST00000260197	ensembl	human	known	70_37	silent	SNP	0.021	G	G	121491799	C	G	121491799	2	3	61	1	0	0	0	0	0	0	0	1	14964	813	29	1		1	SORL1	11	121491799	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7793753	121491799	13514717	186	9529										
GALNT8	26290	genome.wustl.edu	37	chr12	4848368	4848368	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccttcccaactcccatccctCagtgtcattctcatattcgt	3	17	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:4848368C>T	ENST00000252318.2	+	3	886	c.549C>T	c.(547-549)ctC>ctT	p.L183L	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	183	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCCCATCCCTCAGTGTCATTC	0.393																																					Colon(108;631 1558 7270 20097 39846)												0													125	112	116					12																	4848368		2203	4300	6503	SO:0001819	synonymous_variant	26290			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.549C>T	12.37:g.4848368C>T			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L183	ENST00000252318.2	37	c.549	CCDS8533.1	12																																																																																			GALNT8	-	NULL		0.393	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	C	NM_017417		4848368	1	no_errors	ENST00000252318	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4848368	C	T	4848368	2	4	61	1	0	0	0	0	0	0	0	1	6238	813	29	1		1	GALNT8	12	4848368	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		4848368	129003527	187	9530										
LEPREL2	2784	genome.wustl.edu	37	chr12	6948234	6948234	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cgagaatccccatggggtgtGggccgtgactcggggacggc	18	11	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:6948234G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|GNB3_ENST00000435982.2_5'Flank|LEPREL2_ENST00000606935.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.W658*(1)|p.W474*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CATGGGGTGTGGGCCGTGACT	0.667																																																	2	Substitution - Nonsense(2)	cervix(2)											36	42	40					12																	6948234		2097	4209	6306	SO:0001631	upstream_gene_variant	10536				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948234G>A	Exception_encountered		Q96B71|Q9BQC0	Nonsense_Mutation	SNP	smart_Pro_4_hyd_alph	p.W658*	ENST00000229264.3	37	c.1973	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.812630	0.97857	.	.	ENSG00000110811	ENST00000451242;ENST00000396725;ENST00000290510	.	.	.	4.99	4.99	0.66335	.	0.217137	0.42964	D	0.000625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-10.8961	18.2817	0.90101	0.0:0.0:1.0:0.0	.	.	.	.	X	86;658;474	.	ENSP00000290510:W474X	W	+	2	0	LEPREL2	6818495	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	4.808000	0.62583	2.319000	0.78375	0.561000	0.74099	TGG	LEPREL2	-	smart_Pro_4_hyd_alph		0.667	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL2	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6948234	1	no_errors	ENST00000396725	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	6948234	G	A	6948234	1	1	61	0	1	0	0	0	0	0	0	0	8751	1357	47	4		4	LEPREL2	12	6948234	5'Flank	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2099866	6948234	126903661	188	9531										
CD163	9332	genome.wustl.edu	37	chr12	7637945	7637945	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtgccccaagctccattgtaAaaaacttccagacgccctgc	7	15	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:7637945A>G	ENST00000359156.4	-	11	2728	c.2526T>C	c.(2524-2526)ttT>ttC	p.F842F	CD163_ENST00000432237.2_Silent_p.F842F|CD163_ENST00000396620.3_Silent_p.F875F|CD163_ENST00000541972.1_Silent_p.F830F|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	842	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.F842F(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTCCATTGTAAAAAACTTCCA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											92	89	90					12																	7637945		2203	4300	6503	SO:0001819	synonymous_variant	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2526T>C	12.37:g.7637945A>G			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.F842	ENST00000359156.4	37	c.2526	CCDS8578.1	12																																																																																			CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	A	NM_004244, NM_203416		7637945	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	silent	SNP	0.994	G	G	7637945	A	G	7637945	2	3	61	1	0	0	0	0	0	0	0	1	2972	11	1	5		5	CD163	12	7637945	Silent	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08	689711	7637945	126213950	189	9532										
KLRC1	3821	genome.wustl.edu	37	chr12	10601865	10601865	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcattatctatagaaagcaGactggagttcttcgaagtac	8	7	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:10601865G>A	ENST00000359151.3	-	5	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	KLRC1_ENST00000408006.3_Silent_p.L136L|KLRC1_ENST00000544822.1_Silent_p.L154L|KLRC1_ENST00000536188.1_Silent_p.L154L|KLRC1_ENST00000347831.5_Silent_p.L136L	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	154	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L154L(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ATAGAAAGCAGACTGGAGTTC	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											157	165	162					12																	10601865		2203	4298	6501	SO:0001819	synonymous_variant	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.460C>T	12.37:g.10601865G>A				Silent	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L154	ENST00000359151.3	37	c.460	CCDS8625.1	12																																																																																			KLRC1	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.348	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	G	NM_002259		10601865	-1	no_errors	ENST00000359151	ensembl	human	known	70_37	silent	SNP	0.004	A	A	10601865	G	A	10601865	2	1	61	1	0	0	0	0	0	0	0	1	8435	933	33	1		1	KLRC1	12	10601865	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2963920	10601865	123250030	190	9533										
PLBD1	79887	genome.wustl.edu	37	chr12	14659187	14659187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggggtcacctctactgtaaGgatccttcttataatctagg	9	9	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:14659187G>T	ENST00000240617.5	-	10	2040	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	463					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.P463H(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTACTGTAAGGATCCTTCTT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											99	89	92					12																	14659187		2203	4300	6503	SO:0001583	missense	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1388C>A	12.37:g.14659187G>T	ENSP00000240617:p.Pro463His		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.P463H	ENST00000240617.5	37	c.1388	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545484	0.65198	.	.	ENSG00000121316	ENST00000240617	T	0.18016	2.24	5.91	4.04	0.47022	.	0.052924	0.85682	D	0.000000	T	0.52125	0.1715	H	0.96080	3.765	0.53005	D	0.999966	D	0.89917	1.0	D	0.77557	0.99	T	0.64960	-0.6284	10	0.87932	D	0	-5.3702	10.603	0.45377	0.0701:0.1307:0.7993:0.0	.	463	Q6P4A8	PLBL1_HUMAN	H	463	ENSP00000240617:P463H	ENSP00000240617:P463H	P	-	2	0	PLBD1	14550454	0.998000	0.40836	0.554000	0.28268	0.580000	0.36256	2.672000	0.46850	1.466000	0.48025	0.655000	0.94253	CCT	PLBD1	-	pfam_PLipase_B-like		0.448	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	G	NM_024829		14659187	-1	no_errors	ENST00000240617	ensembl	human	known	70_37	missense	SNP	0.997	T	T	14659187	G	T	14659187	3	4	61	1	0	0	0	0	1	0	0	0	12049	1000	35	4	281	4	PLBD1	12	14659187	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4057322	14659187	119192708	191	9534										
FGD4	121512	genome.wustl.edu	37	chr12	32735220	32735220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgaaactgccacagctcctgCatcacccacaacagacagct	6	16	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:32735220C>T	ENST00000427716.2	+	4	843	c.419C>T	c.(418-420)gCa>gTa	p.A140V	FGD4_ENST00000534526.2_Missense_Mutation_p.A277V|FGD4_ENST00000531134.1_Missense_Mutation_p.A225V|FGD4_ENST00000546442.1_Missense_Mutation_p.A47V|FGD4_ENST00000472289.1_Missense_Mutation_p.A140V|FGD4_ENST00000525053.1_Missense_Mutation_p.A252V|FGD4_ENST00000266482.3_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	140	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A140V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACAGCTCCTGCATCACCCACA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											105	97	99					12																	32735220		2203	4300	6503	SO:0001583	missense	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.419C>T	12.37:g.32735220C>T	ENSP00000394487:p.Ala140Val		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A140V	ENST00000427716.2	37	c.419	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761629	0.31228	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.70516	-0.49;-0.47;-0.47;-0.46;-0.48	5.04	4.14	0.48551	.	0.278614	0.25540	N	0.029962	T	0.71542	0.3352	N	0.24115	0.695	0.28911	N	0.892688	B;B;B;D	0.71674	0.005;0.005;0.0;0.998	B;B;B;D	0.66979	0.003;0.003;0.001;0.948	T	0.67389	-0.5683	10	0.66056	D	0.02	-10.5258	10.8131	0.46559	0.1894:0.8106:0.0:0.0	.	252;225;140;140	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	V	277;225;140;140;47;252;121	ENSP00000449273:A277V;ENSP00000431323:A225V;ENSP00000394487:A140V;ENSP00000446695:A47V;ENSP00000433666:A252V	ENSP00000379089:A140V	A	+	2	0	FGD4	32626487	0.001000	0.12720	0.178000	0.23040	0.019000	0.09904	0.428000	0.21395	1.102000	0.41551	-0.309000	0.09137	GCA	FGD4	-	NULL		0.498	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	C	NM_139241		32735220	1	no_errors	ENST00000427716	ensembl	human	known	70_37	missense	SNP	0.194	T	T	32735220	C	T	32735220	3	4	61	1	0	0	0	0	1	0	0	0	5853	710	25	4	425	4	FGD4	12	32735220	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	18076033	32735220	101116675	192	9535										
LRRK2	120892	genome.wustl.edu	37	chr12	40728939	40728939	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctacagcacaggattgcactCcacgtagctgatggtttgag	11	10	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:40728939C>G	ENST00000298910.7	+	40	5986	c.5928C>G	c.(5926-5928)ctC>ctG	p.L1976L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1976	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L1983L(1)|p.L1976L(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGATTGCACTCCACGTAGCTG	0.498																																																	2	Substitution - coding silent(2)	cervix(2)											104	96	99					12																	40728939		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5928C>G	12.37:g.40728939C>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.L1976	ENST00000298910.7	37	c.5928	CCDS31774.1	12																																																																																			LRRK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.498	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	C	XM_058513		40728939	1	no_errors	ENST00000298910	ensembl	human	known	70_37	silent	SNP	0.038	G	G	40728939	C	G	40728939	2	3	61	1	0	0	0	0	0	0	0	1	9056	842	30	1		1	LRRK2	12	40728939	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7993719	40728939	93122956	193	9536										
SCN8A	6334	genome.wustl.edu	37	chr12	52159725	52159725	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgttgtgcggggagtggattGagaccatgtgggactgcatg	18	5	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:52159725G>C	ENST00000354534.6	+	16	2993	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.E939Q|SCN8A_ENST00000550891.1_Missense_Mutation_p.E939Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	939					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.E939Q(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGAGTGGATTGAGACCATGTG	0.488																																																	2	Substitution - Missense(2)	cervix(2)											223	231	228					12																	52159725		2202	4299	6501	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2815G>C	12.37:g.52159725G>C	ENSP00000346534:p.Glu939Gln		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E939Q	ENST00000354534.6	37	c.2815	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728675	0.89390	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98550	-4.99;-4.4;-4.4;-4.4	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.91635	0.994;0.979;0.999	D	0.99433	1.0936	10	0.87932	D	0	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	939;939;939	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	Q	939;939;939;939;852	ENSP00000448415:E939Q;ENSP00000346534:E939Q;ENSP00000440360:E939Q;ENSP00000347255:E939Q	ENSP00000346534:E939Q	E	+	1	0	SCN8A	50445992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	GAG	SCN8A	-	pfam_Ion_trans_dom		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52159725	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52159725	G	C	52159725	3	2	61	1	0	0	0	0	1	0	0	0	13954	1291	45	1	2873	1	SCN8A	12	52159725	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11430786	52159725	81692170	194	9537										
SP7	121340	genome.wustl.edu	37	chr12	53722969	53722969	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggtaatcattagcatagcctGaggtgggtgctggaggactg	16	6	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:53722969G>C	ENST00000536324.2	-	3	540	c.257C>G	c.(256-258)tCa>tGa	p.S86*	SP7_ENST00000303846.3_Nonsense_Mutation_p.S86*|SP7_ENST00000537210.2_Nonsense_Mutation_p.S68*	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	86					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S86*(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGCATAGCCTGAGGTGGGTGC	0.572																																																	1	Substitution - Nonsense(1)	cervix(1)											179	181	180					12																	53722969		1999	4167	6166	SO:0001587	stop_gained	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.257C>G	12.37:g.53722969G>C	ENSP00000443827:p.Ser86*		B3KY26|Q3MJ72|Q7Z718	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S86*	ENST00000536324.2	37	c.257	CCDS44897.1	12	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042675	0.55003	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	.	.	.	3.85	3.85	0.44370	.	0.415458	0.22757	N	0.056010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.725	0.77747	0.0:0.0:1.0:0.0	.	.	.	.	X	86;86;68;68	.	ENSP00000302812:S86X	S	-	2	0	SP7	52009236	0.352000	0.24895	0.993000	0.49108	0.644000	0.38419	3.376000	0.52417	2.441000	0.82636	0.313000	0.20887	TCA	SP7	-	NULL		0.572	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	G			53722969	-1	no_errors	ENST00000303846	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	53722969	G	C	53722969	4	2	61	1	0	0	0	0	0	1	0	0	14999	1294	45	1	1042	1	SP7	12	53722969	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1563244	53722969	80128926	195	9538										
SP7	121340	genome.wustl.edu	37	chr12	53723062	53723062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cccccatggttttggaggctGaaaggtcactgcccacagag	12	12	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:53723062G>A	ENST00000536324.2	-	3	447	c.164C>T	c.(163-165)tCa>tTa	p.S55L	SP7_ENST00000303846.3_Missense_Mutation_p.S55L|SP7_ENST00000537210.2_Missense_Mutation_p.S37L	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	55					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S55L(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTTGGAGGCTGAAAGGTCACT	0.562																																																	1	Substitution - Missense(1)	cervix(1)											182	182	182					12																	53723062		2046	4202	6248	SO:0001583	missense	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.164C>T	12.37:g.53723062G>A	ENSP00000443827:p.Ser55Leu		B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S55L	ENST00000536324.2	37	c.164	CCDS44897.1	12	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332343	0.24167	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.50277	3.16;3.16;3.09;0.75	3.85	3.85	0.44370	.	0.578960	0.17252	N	0.181124	T	0.40956	0.1138	L	0.32530	0.975	0.37041	D	0.897141	D	0.54601	0.967	P	0.50192	0.634	T	0.43343	-0.9397	10	0.48119	T	0.1	.	5.6262	0.17485	0.1069:0.2036:0.6895:0.0	.	55	Q8TDD2	SP7_HUMAN	L	55;55;37;37	ENSP00000443827:S55L;ENSP00000302812:S55L;ENSP00000441367:S37L;ENSP00000449355:S37L	ENSP00000302812:S55L	S	-	2	0	SP7	52009329	1.000000	0.71417	0.994000	0.49952	0.729000	0.41735	4.115000	0.57865	2.441000	0.82636	0.313000	0.20887	TCA	SP7	-	NULL		0.562	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	G			53723062	-1	no_errors	ENST00000303846	ensembl	human	known	70_37	missense	SNP	0.984	A	A	53723062	G	A	53723062	3	1	61	1	0	0	0	0	1	0	0	0	14999	1294	45	1	1135	1	SP7	12	53723062	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	93	53723062	80128833	196	9539										
AMHR2	269	genome.wustl.edu	37	chr12	53823280	53823280	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caccgagatctgagcagccaGaatgtgctcattcgggaaga	12	10	2	4	rs377172469		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:53823280G>A	ENST00000257863.4	+	8	1091	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	AMHR2_ENST00000550311.1_Silent_p.Q337Q|AMHR2_ENST00000379791.3_Silent_p.Q337Q	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.Q337Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGAGCAGCCAGAATGTGCTCA	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											102	95	97					12																	53823280		2203	4300	6503	SO:0001819	synonymous_variant	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1011G>A	12.37:g.53823280G>A			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.Q337	ENST00000257863.4	37	c.1011	CCDS8858.1	12																																																																																			AMHR2	-	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,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom		0.537	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	G	NM_020547		53823280	1	no_errors	ENST00000257863	ensembl	human	known	70_37	silent	SNP	0.984	A	A	53823280	G	A	53823280	2	1	61	1	0	0	0	0	0	0	0	1	573	933	33	1		1	AMHR2	12	53823280	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	100218	53823280	80028615	197	9540										
HOXC5	3222	genome.wustl.edu	37	chr12	54428265	54428265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	attccaaaatgaaaagcaaaGaggctctttagaggcagcgg	11	7	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:54428265G>C	ENST00000312492.2	+	2	928	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.E124Q|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	220					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E220Q(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GAAAAGCAAAGAGGCTCTTTA	0.522																																																	1	Substitution - Missense(1)	cervix(1)											32	36	34					12																	54428265		2203	4300	6503	SO:0001583	missense	3222				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"Homeoboxes / ANTP class : HOXL subclass"	5127	protein-coding gene	gene with protein product		142973	"homeo box C5"	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.658G>C	12.37:g.54428265G>C	ENSP00000309336:p.Glu220Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E220Q	ENST00000312492.2	37	c.658	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	g	12.17	1.856707	0.32791	.	.	ENSG00000172789	ENST00000312492	D	0.90444	-2.67	4.29	3.39	0.38822	Homeodomain-related (1);	0.340109	0.21375	N	0.075569	D	0.82926	0.5143	N	0.16743	0.435	0.80722	D	1	P	0.35700	0.516	B	0.37267	0.245	T	0.82261	-0.0545	10	0.54805	T	0.06	.	11.4675	0.50248	0.0915:0.0:0.9085:0.0	.	220	Q00444	HXC5_HUMAN	Q	220	ENSP00000309336:E220Q	ENSP00000309336:E220Q	E	+	1	0	HOXC5	52714532	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	8.520000	0.90566	1.148000	0.42385	-0.265000	0.10407	GAG	HOXC5	-	NULL		0.522	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	HGNC	protein_coding	OTTHUMT00000358947.1	G			54428265	1	no_errors	ENST00000312492	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54428265	G	C	54428265	3	2	61	1	0	0	0	0	1	0	0	0	7334	943	33	1	664	1	HOXC5	12	54428265	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	604985	54428265	79423630	198	9541										
SLC39A5	283375	genome.wustl.edu	37	chr12	56625235	56625235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgactgcagggggcttggcGcggcttctccacagcctggg	16	13	1	1	rs148881378		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:56625235G>A	ENST00000266980.4	+	2	470	c.177G>A	c.(175-177)gcG>gcA	p.A59A	SLC39A5_ENST00000454355.2_Silent_p.A59A	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	59					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.A58A(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTGGCGCGGCTTCTCC	0.647																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	1,4405	2.1+/-5.4	0,1,2202	56	61	59		177,177	-8.6	0	12	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	SLC39A5	NM_001135195.1,NM_173596.2	,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,	59/541,59/541	56625235	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.177G>A	12.37:g.56625235G>A			B2R808|Q8N6Y3	Silent	SNP	pfam_ZIP	p.A59	ENST00000266980.4	37	c.177	CCDS8912.2	12																																																																																			SLC39A5	-	NULL		0.647	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	G	NM_173596		56625235	1	no_errors	ENST00000266980	ensembl	human	known	70_37	silent	SNP	0.004	A	A	56625235	G	A	56625235	2	1	61	1	0	0	0	0	0	0	0	1	14651	1074	38	2		2	SLC39A5	12	56625235	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2196970	56625235	77226660	199	9542										
LRP1	4035	genome.wustl.edu	37	chr12	57578643	57578643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atgggaagctgtactggtgcGatgcacggacagacaagatt	14	7	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:57578643G>A	ENST00000243077.3	+	39	6674	c.6208G>A	c.(6208-6210)Gat>Aat	p.D2070N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2070					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D2070N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTACTGGTGCGATGCACGGAC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											132	110	117					12																	57578643		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6208G>A	12.37:g.57578643G>A	ENSP00000243077:p.Asp2070Asn		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2070N	ENST00000243077.3	37	c.6208	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.500867	0.96371	.	.	ENSG00000123384	ENST00000243077	D	0.93307	-3.2	5.27	5.27	0.74061	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97402	0.9150	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98285	1.0510	10	0.87932	D	0	.	17.6667	0.88205	0.0:0.0:1.0:0.0	.	2070	Q07954	LRP1_HUMAN	N	2070	ENSP00000243077:D2070N	ENSP00000243077:D2070N	D	+	1	0	LRP1	55864910	1.000000	0.71417	0.845000	0.33349	0.928000	0.56348	9.869000	0.99810	2.468000	0.83385	0.462000	0.41574	GAT	LRP1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57578643	1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57578643	G	A	57578643	3	1	61	1	0	0	0	0	1	0	0	0	8974	1058	37	1	6362	1	LRP1	12	57578643	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	953408	57578643	76273252	200	9543										
DTX3	196403	genome.wustl.edu	37	chr12	58002422	58002422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaggcgtttgaccagcgtctCaccttcactatcggcacgtc	9	14	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:58002422C>T	ENST00000548198.1	+	4	2374	c.870C>T	c.(868-870)ctC>ctT	p.L290L	ARHGEF25_ENST00000286494.4_5'Flank|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000337737.3_Silent_p.L290L|DTX3_ENST00000551632.1_Silent_p.L293L|DTX3_ENST00000548804.1_Silent_p.L290L			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	290					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L290L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACCAGCGTCTCACCTTCACTA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											70	77	74					12																	58002422		2160	4253	6413	SO:0001819	synonymous_variant	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.870C>T	12.37:g.58002422C>T			Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L293	ENST00000548198.1	37	c.879	CCDS41800.1	12																																																																																			DTX3	-	NULL		0.607	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	HGNC	protein_coding	OTTHUMT00000407848.1	C	NM_178502		58002422	1	no_errors	ENST00000551632	ensembl	human	known	70_37	silent	SNP	0.998	T	T	58002422	C	T	58002422	2	4	61	1	0	0	0	0	0	0	0	1	4805	813	29	1		1	DTX3	12	58002422	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	423779	58002422	75849473	201	9544										
GNS	2799	genome.wustl.edu	37	chr12	65115473	65115473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agcatcttcacatacacagtCtgggaagcattgctgtaggg	11	9	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:65115473C>T	ENST00000258145.3	-	12	1491	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	GNS_ENST00000418919.2_Missense_Mutation_p.D385N|GNS_ENST00000542058.1_Missense_Mutation_p.D421N|GNS_ENST00000543646.1_Missense_Mutation_p.D473N	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	441					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.D441N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CATACACAGTCTGGGAAGCAT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											149	124	133					12																	65115473		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1321G>A	12.37:g.65115473C>T	ENSP00000258145:p.Asp441Asn		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.D441N	ENST00000258145.3	37	c.1321	CCDS8970.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.843338|4.843338	0.91197|0.91197	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.43;-0.43|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73513|0.73513	0.3596|0.3596	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.51537|.	0.531;0.944;0.536;0.946|.	P;P;P;P|.	0.52109|.	0.479;0.69;0.549;0.614|.	T|T	0.68622|0.68622	-0.5360|-0.5360	9|5	.|.	.|.	.|.	-31.9908|-31.9908	20.2469|20.2469	0.98398|0.98398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	421;473;441;385|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	N|K	385;441;473;421;358|226	ENSP00000413130:D385N;ENSP00000258145:D441N;ENSP00000438497:D473N;ENSP00000444819:D421N|.	.|.	D|R	-|-	1|2	0|0	GNS|GNS	63401740|63401740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.708000|7.708000	0.84633|0.84633	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAC|AGA	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	C			65115473	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65115473	C	T	65115473	3	4	61	1	0	0	0	0	1	0	0	0	6569	913	32	1	349	1	GNS	12	65115473	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7113051	65115473	68736422	202	9545										
HELB	92797	genome.wustl.edu	37	chr12	66696510	66696510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atgaagagtccgtgttcatcGacgccgaggagctctgcagt	13	10	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:66696510G>A	ENST00000247815.4	+	1	186	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	43					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.D43N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CGTGTTCATCGACGCCGAGGA	0.652																																																	1	Substitution - Missense(1)	cervix(1)											54	47	50					12																	66696510		2203	4300	6503	SO:0001583	missense	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.127G>A	12.37:g.66696510G>A	ENSP00000247815:p.Asp43Asn		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.D43N	ENST00000247815.4	37	c.127	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434908	0.83885	.	.	ENSG00000127311	ENST00000247815	T	0.14516	2.5	5.71	5.71	0.89125	.	0.054766	0.64402	D	0.000002	T	0.35913	0.0948	M	0.65498	2.005	0.42926	D	0.994307	D	0.89917	1.0	D	0.91635	0.999	T	0.01413	-1.1361	9	.	.	.	-24.6126	15.3562	0.74428	0.0:0.0:1.0:0.0	.	43	Q8NG08	HELB_HUMAN	N	43	ENSP00000247815:D43N	.	D	+	1	0	HELB	64982777	0.992000	0.36948	0.910000	0.35882	0.331000	0.28603	4.425000	0.59875	2.706000	0.92434	0.561000	0.74099	GAC	HELB	-	NULL		0.652	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	G			66696510	1	no_errors	ENST00000247815	ensembl	human	known	70_37	missense	SNP	0.981	A	A	66696510	G	A	66696510	3	1	61	1	0	0	0	0	1	0	0	0	7065	1058	37	1	129	1	HELB	12	66696510	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1581037	66696510	67155385	203	9546										
TSPAN8	7103	genome.wustl.edu	37	chr12	71526553	71526553	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acataattcaggatagtgttGaaaattatttccccaatcag	6	7	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:71526553G>C	ENST00000393330.2	-	10	1048	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	TSPAN8_ENST00000247829.3_Missense_Mutation_p.Q166E|TSPAN8_ENST00000546561.1_Missense_Mutation_p.Q166E|TSPAN8_ENST00000552128.1_Missense_Mutation_p.Q83E			P19075	TSN8_HUMAN	tetraspanin 8	166					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q166E(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GGATAGTGTTGAAAATTATTT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											193	174	181					12																	71526553		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.496C>G	12.37:g.71526553G>C	ENSP00000377003:p.Gln166Glu		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q166E	ENST00000393330.2	37	c.496	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	G	0.858	-0.736349	0.03111	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.65	-8.17	0.01057	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.75939	0.3918	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.64846	-0.6311	9	0.02654	T	1	.	16.5188	0.84308	0.0:0.6184:0.2269:0.1547	.	166	P19075	TSN8_HUMAN	E	166;166;166;83	ENSP00000377003:Q166E;ENSP00000247829:Q166E;ENSP00000447160:Q166E;ENSP00000449820:Q83E	ENSP00000247829:Q166E	Q	-	1	0	TSPAN8	69812820	0.435000	0.25577	0.002000	0.10522	0.096000	0.18686	0.882000	0.28186	-1.055000	0.03209	-0.282000	0.10007	CAA	TSPAN8	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.358	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	G	NM_004616		71526553	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.000	C	C	71526553	G	C	71526553	3	2	61	1	0	0	0	0	1	0	0	0	16684	1299	45	1	229	1	TSPAN8	12	71526553	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4830043	71526553	62325342	204	9547										
TCHP	84260	genome.wustl.edu	37	chr12	110345389	110345389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaatgaatatgaaagggcccGaagggaggcgctagaaagga	15	5	0	3	rs140118187		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:110345389G>A	ENST00000312777.5	+	6	798	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	TCHP_ENST00000405876.4_Missense_Mutation_p.R195Q	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding									p.R195Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAAAGGGCCCGAAGGGAGGCG	0.517													G|||	1	0.000199681	0	0	5008	,	,		21162	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	71	76	74		584,584	4.1	0	12	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TCHP	NM_001143852.1,NM_032300.4	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	195/499,195/499	110345389	1,13005	2203	4300	6503	SO:0001583	missense	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.584G>A	12.37:g.110345389G>A	ENSP00000324404:p.Arg195Gln			Missense_Mutation	SNP	NULL	p.R195Q	ENST00000312777.5	37	c.584	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708995	0.30322	0.0	1.16E-4	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777	T;T	0.14766	2.48;2.48	4.95	4.07	0.47477	.	0.057379	0.64402	N	0.000003	T	0.34250	0.0891	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25152	-1.0140	10	0.15066	T	0.55	-11.2935	11.4287	0.50027	0.089:0.0:0.9109:0.0	.	195	Q9BT92	TCHP_HUMAN	Q	195	ENSP00000384520:R195Q;ENSP00000324404:R195Q	ENSP00000324404:R195Q	R	+	2	0	TCHP	108829772	0.864000	0.29904	0.007000	0.13788	0.153000	0.21895	4.374000	0.59543	1.109000	0.41680	-0.304000	0.09214	CGA	TCHP	-	NULL		0.517	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	G	NM_032300		110345389	1	no_errors	ENST00000312777	ensembl	human	known	70_37	missense	SNP	0.124	A	A	110345389	G	A	110345389	3	1	61	1	0	0	0	0	1	0	0	0	15732	1058	37	1	602	1	TCHP	12	110345389	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	38818836	110345389	23506506	205	9548										
ATXN2	6311	genome.wustl.edu	37	chr12	111954009	111954009	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gacaggagctggagaaccatGagcagaggggtgagacgggg	20	6	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:111954009G>A	ENST00000377617.3	-	10	1965	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	ATXN2_ENST00000389153.4_Missense_Mutation_p.H337Y|ATXN2_ENST00000542287.2_Missense_Mutation_p.H337Y|ATXN2_ENST00000550104.1_Missense_Mutation_p.H602Y|ATXN2_ENST00000535949.1_Missense_Mutation_p.H313Y|ATXN2_ENST00000608853.1_Missense_Mutation_p.H442Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	602	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H602Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGAGAACCATGAGCAGAGGGG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											46	49	48					12																	111954009		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1804C>T	12.37:g.111954009G>A	ENSP00000366843:p.His602Tyr		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.H602Y	ENST00000377617.3	37	c.1804	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822269	0.32237	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.67345	-0.21;-0.26	5.6	5.6	0.85130	.	0.091921	0.85682	D	0.000000	T	0.73393	0.3581	N	0.24115	0.695	0.58432	D	0.999991	P;D;P;D	0.67145	0.666;0.967;0.92;0.996	B;P;P;D	0.75484	0.097;0.622;0.527;0.986	T	0.76024	-0.3110	10	0.59425	D	0.04	-12.6528	19.1944	0.93681	0.0:0.0:1.0:0.0	.	337;602;313;337	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	Y	337;602;602;337;313	ENSP00000366843:H602Y;ENSP00000446576:H602Y	ENSP00000366843:H602Y	H	-	1	0	ATXN2	110438392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.258000	0.95555	2.617000	0.88574	0.655000	0.94253	CAT	ATXN2	-	NULL		0.552	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	G	NM_002973		111954009	-1	no_errors	ENST00000377617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111954009	G	A	111954009	3	1	61	1	0	0	0	0	1	0	0	0	1212	1290	45	1	2201	1	ATXN2	12	111954009	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1608620	111954009	21897886	206	9549										
RPL6	6128	genome.wustl.edu	37	chr12	112846139	112846139	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cttctccttctttttcttttCaacctacaaggacacaaatg	3	12	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:112846139C>T	ENST00000424576.2	-	3	426	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	RPL6_ENST00000202773.9_Missense_Mutation_p.E81K	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E81K(1)		cervix(1)|large_intestine(6)|lung(3)	10						TTTTTCTTTTCAACCTACAAG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											122	127	125					12																	112846139		2203	4300	6503	SO:0001583	missense	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.241G>A	12.37:g.112846139C>T	ENSP00000403172:p.Glu81Lys		Q2M3Q3|Q8WW97	Missense_Mutation	SNP	pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.E81K	ENST00000424576.2	37	c.241	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799075	0.90538	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343	T;T	0.32753	1.44;1.44	5.03	5.03	0.67393	Ribosomal protein L6, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	L	0.55834	1.745	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.37842	-0.9688	10	0.25751	T	0.34	.	18.3851	0.90464	0.0:1.0:0.0:0.0	.	81	Q02878	RL6_HUMAN	K	81;81;21;81;81;81;81	ENSP00000202773:E81K;ENSP00000403172:E81K	ENSP00000202773:E81K	E	-	1	0	RPL6	111330522	1.000000	0.71417	0.945000	0.38365	0.700000	0.40528	7.320000	0.79064	2.348000	0.79779	0.655000	0.94253	GAA	RPL6	-	pfam_Ribosomal_L6_N		0.443	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1	C			112846139	-1	no_errors	ENST00000202773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112846139	C	T	112846139	3	4	61	1	0	0	0	0	1	0	0	0	13628	835	29	1	645	1	RPL6	12	112846139	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	892130	112846139	21005756	207	9550										
KSR2	283455	genome.wustl.edu	37	chr12	117993045	117993045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atagcgaggtggcttccgtaGagggttgttgatgtcacacg	15	7	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:117993045G>A	ENST00000339824.5	-	9	2174	c.1447C>T	c.(1447-1449)Cta>Tta	p.L483L	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.L180L|KSR2_ENST00000425217.1_Silent_p.L454L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	483					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L515L(1)|p.L180L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTCCGTAGAGGGTTGTTG	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											141	146	144					12																	117993045		1970	4157	6127	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1447C>T	12.37:g.117993045G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L483	ENST00000339824.5	37	c.1447		12																																																																																			KSR2	-	NULL		0.507	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	G	NM_173598		117993045	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	0.992	A	A	117993045	G	A	117993045	2	1	61	1	0	0	0	0	0	0	0	1	8602	933	33	1		1	KSR2	12	117993045	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	5146906	117993045	15858850	208	9551										
PIWIL1	9271	genome.wustl.edu	37	chr12	130827568	130827568	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gttatattcagcctaggcctCagccgccaccagcagagggg	12	13	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:130827568C>T	ENST00000245255.3	+	3	384	c.112C>T	c.(112-114)Cag>Tag	p.Q38*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	38					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.Q38*(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCCTAGGCCTCAGCCGCCACC	0.478																																																	1	Substitution - Nonsense(1)	cervix(1)											62	61	61					12																	130827568		2203	4300	6503	SO:0001587	stop_gained	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.112C>T	12.37:g.130827568C>T	ENSP00000245255:p.Gln38*		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q38*	ENST00000245255.3	37	c.112	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233412	0.58886	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	.	.	.	5.03	5.03	0.67393	.	0.696409	0.14488	N	0.316547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-4.9236	17.2798	0.87125	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000245255:Q38X	Q	+	1	0	PIWIL1	129393521	0.986000	0.35501	0.294000	0.24946	0.008000	0.06430	3.025000	0.49681	2.480000	0.83734	0.591000	0.81541	CAG	PIWIL1	-	pfam_GAGE		0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	C			130827568	1	no_errors	ENST00000245255	ensembl	human	known	70_37	nonsense	SNP	0.817	T	T	130827568	C	T	130827568	4	4	61	1	0	0	0	0	0	1	0	0	11981	827	29	1	118	1	PIWIL1	12	130827568	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	12834523	130827568	3024327	209	9552										
PCDH17	27253	genome.wustl.edu	37	chr13	58208026	58208026	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cgtggcgcgggacgggggctCtcctcccctcaactccacca	12	18	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr13:58208026C>T	ENST00000377918.3	+	1	1372	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S449F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACGGGGGCTCTCCTCCCCTC	0.592																																					Melanoma(72;952 1291 1619 12849 33676)												1	Substitution - Missense(1)	cervix(1)											56	42	47					13																	58208026		2202	4299	6501	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1346C>T	13.37:g.58208026C>T	ENSP00000367151:p.Ser449Phe		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S449F	ENST00000377918.3	37	c.1346	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975524	0.18736	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.58	5.58	0.84498	Cadherin (5);Cadherin-like (1);	0.352333	0.30338	N	0.009855	T	0.46541	0.1398	L	0.49513	1.565	0.37934	D	0.932093	B;B	0.27140	0.169;0.095	B;B	0.32211	0.142;0.102	T	0.46693	-0.9173	9	.	.	.	.	9.6709	0.40013	0.1932:0.681:0.1258:0.0	.	449;449	O14917-2;O14917	.;PCD17_HUMAN	F	449	ENSP00000367151:S449F	.	S	+	2	0	PCDH17	57106027	0.265000	0.24102	0.963000	0.40424	0.853000	0.48598	0.756000	0.26419	2.640000	0.89533	0.561000	0.74099	TCT	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208026	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	0.624	T	T	58208026	C	T	58208026	3	4	61	1	0	0	0	0	1	0	0	0	11536	913	32	1	1348	1	PCDH17	13	58208026	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		58208026	56961852	210	9553										
BAZ1A	11177	genome.wustl.edu	37	chr14	35243591	35243591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caatatctaaaagaaaatctCtcagccttagttcaagttgc	5	9	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:35243591C>G	ENST00000382422.2	-	18	3266	c.2939G>C	c.(2938-2940)aGa>aCa	p.R980T	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R948T|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R980T			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	980					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.R980T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAGAAAATCTCTCAGCCTTAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											112	107	109					14																	35243591		2203	4300	6503	SO:0001583	missense	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2939G>C	14.37:g.35243591C>G	ENSP00000371859:p.Arg980Thr		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R980T	ENST00000382422.2	37	c.2939	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482364	0.84747	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.78126	-1.14;-1.15;-1.15	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.76170	2.325	0.54753	D	0.99998	D;D	0.63046	0.99;0.992	P;P	0.58660	0.843;0.784	D	0.87347	0.2335	10	0.66056	D	0.02	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	948;980	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	T	948;980;980;632	ENSP00000351555:R948T;ENSP00000371859:R980T;ENSP00000353458:R980T	ENSP00000351555:R948T	R	-	2	0	BAZ1A	34313342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.101000	0.57769	2.712000	0.92718	0.650000	0.86243	AGA	BAZ1A	-	NULL		0.388	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	C			35243591	-1	no_errors	ENST00000360310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35243591	C	G	35243591	3	3	61	1	0	0	0	0	1	0	0	0	1330	913	32	1	1767	1	BAZ1A	14	35243591	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		35243591	72105949	211	9554										
DLGAP5	9787	genome.wustl.edu	37	chr14	55650367	55650367	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acccactttaaatattcctcGtttagctttctctctctgct	3	13	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:55650367G>A	ENST00000247191.2	-	3	559	c.343C>T	c.(343-345)Cga>Tga	p.R115*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R115*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	115					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.R115*(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATATTCCTCGTTTAGCTTTC	0.338																																																	1	Substitution - Nonsense(1)	cervix(1)											98	86	90					14																	55650367		2203	4300	6503	SO:0001587	stop_gained	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.343C>T	14.37:g.55650367G>A	ENSP00000247191:p.Arg115*		A8MTM6|B4DRM8|Q86T11|Q8NG58	Nonsense_Mutation	SNP	pfam_GKAP	p.R115*	ENST00000247191.2	37	c.343	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453988	0.43634	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	.	.	.	5.46	1.11	0.20524	.	0.975032	0.08428	N	0.947344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7661	0.13132	0.0751:0.1105:0.3767:0.4377	.	.	.	.	X	115	.	ENSP00000247191:R115X	R	-	1	2	DLGAP5	54720120	0.893000	0.30496	0.869000	0.34112	0.618000	0.37518	1.277000	0.33167	0.305000	0.22832	-0.140000	0.14226	CGA	DLGAP5	-	NULL		0.338	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	G	NM_014750		55650367	-1	no_errors	ENST00000247191	ensembl	human	known	70_37	nonsense	SNP	0.141	A	A	55650367	G	A	55650367	4	1	61	1	0	0	0	0	0	1	0	0	4573	1153	40	2	2360	2	DLGAP5	14	55650367	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	20406776	55650367	51699173	212	9555										
EIF2S1	1965	genome.wustl.edu	37	chr14	67847454	67847454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aataatattaataggcgcttGaccccacaggctgtcaaaat	7	9	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:67847454G>C	ENST00000256383.4	+	5	1013	c.552G>C	c.(550-552)ttG>ttC	p.L184F	EIF2S1_ENST00000466499.2_Missense_Mutation_p.L184F	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	184					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.L184F(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ATAGGCGCTTGACCCCACAGG	0.308																																																	1	Substitution - Missense(1)	cervix(1)											51	55	54					14																	67847454		2203	4295	6498	SO:0001583	missense	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.552G>C	14.37:g.67847454G>C	ENSP00000256383:p.Leu184Phe			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L184F	ENST00000256383.4	37	c.552	CCDS9781.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335465|3.335465	0.60853|0.60853	.|.	.|.	ENSG00000134001|ENSG00000134001	ENST00000256383;ENST00000557310;ENST00000466499|ENST00000555876	.|.	.|.	.|.	5.92|5.92	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78253|.	0.4254|.	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.79108|.	0.992|.	T|.	0.80535|.	-0.1339|.	9|.	0.87932|.	D|.	0|.	-7.268|-7.268	16.0518|16.0518	0.80769|0.80769	0.1232:0.0:0.8768:0.0|0.1232:0.0:0.8768:0.0	.|.	184|.	P05198|.	IF2A_HUMAN|.	F|S	184|141	.|.	ENSP00000256383:L184F|.	L|X	+|+	3|2	2|2	EIF2S1|EIF2S1	66917207|66917207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	1.108000|1.108000	0.31123|0.31123	0.852000|0.852000	0.35287|0.35287	-0.813000|-0.813000	0.03139|0.03139	TTG|TGA	EIF2S1	-	pfam_TIF_2_asu		0.308	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	G	NM_004094		67847454	1	no_errors	ENST00000256383	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67847454	G	C	67847454	3	2	61	1	0	0	0	0	1	0	0	0	5019	1281	45	1	566	1	EIF2S1	14	67847454	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	12197087	67847454	39502086	213	9556										
C14orf145	145508	genome.wustl.edu	37	chr14	81259400	81259400	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	attctggatctccttaagtcGatccaacatctgcagttgct	7	11	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:81259400G>A	ENST00000555265.1	-	14	1639	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.R422*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	422						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R422*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCTTAAGTCGATCCAACATC	0.448																																																	2	Substitution - Nonsense(2)	cervix(1)|breast(1)											167	152	157					14																	81259400		2203	4300	6503	SO:0001587	stop_gained	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1264C>T	14.37:g.81259400G>A	ENSP00000451162:p.Arg422*		B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	NULL	p.R422*	ENST00000555265.1	37	c.1264	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	G	38	7.075523	0.98048	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.51	2.58	0.30949	.	0.557653	0.16862	N	0.196467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	10.9687	0.47426	0.0:0.1374:0.6111:0.2515	.	.	.	.	X	422	.	ENSP00000281129:R422X	R	-	1	2	CEP128	80329153	1.000000	0.71417	0.497000	0.27552	0.273000	0.26683	4.557000	0.60782	0.235000	0.21160	-0.188000	0.12872	CGA	CEP128	-	NULL		0.448	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	G	NM_152446		81259400	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	81259400	G	A	81259400	4	1	61	1	0	0	0	0	0	1	0	0	1753	1066	37	1	2068	1	C14orf145	14	81259400	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	13411946	81259400	26090140	214	9557										
ZC3H14	79882	genome.wustl.edu	37	chr14	89039025	89039025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttgatattaagccagaaccaGatgatctcattgacgaagac	8	8	1	6			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:89039025G>A	ENST00000251038.5	+	6	760	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZC3H14_ENST00000555755.1_Missense_Mutation_p.D179N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.D179N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.D179N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.D145N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.D179N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.D24N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.D145N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	179						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D179N(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCCAGAACCAGATGATCTCAT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											157	155	156					14																	89039025		2203	4300	6503	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.535G>A	14.37:g.89039025G>A	ENSP00000251038:p.Asp179Asn		A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.D179N	ENST00000251038.5	37	c.535	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.556790	0.96514	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.83	5.83	0.93111	.	0.050820	0.85682	D	0.000000	T	0.79458	0.4449	M	0.66939	2.045	0.44880	D	0.99789	D;D;D;D;D;D	0.89917	1.0;0.992;0.998;1.0;0.992;1.0	D;P;D;D;P;D	0.87578	0.998;0.856;0.995;0.998;0.856;0.998	T	0.79276	-0.1870	9	0.62326	D	0.03	-15.9474	20.106	0.97895	0.0:0.0:1.0:0.0	.	179;160;179;179;179;179	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	N	179;179;179;145;179;160;179;166;24;145;179;179;145	.	ENSP00000251038:D179N	D	+	1	0	ZC3H14	88108778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.063000	0.89482	2.758000	0.94735	0.655000	0.94253	GAT	ZC3H14	-	NULL		0.443	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	G	NM_024824		89039025	1	no_errors	ENST00000251038	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89039025	G	A	89039025	3	1	61	1	0	0	0	0	1	0	0	0	17596	942	33	1	557	1	ZC3H14	14	89039025	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	7779625	89039025	18310515	215	9558										
KIAA1409	57578	genome.wustl.edu	37	chr14	94152932	94152932	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tttcagtgtgggactgcagcGatggagtgtgtgaggcagta	17	5	1	1	rs574035652		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:94152932G>A	ENST00000393151.2	+	44	6951	c.6951G>A	c.(6949-6951)gcG>gcA	p.A2317A	UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000553484.1_Silent_p.A2339A|UNC79_ENST00000555664.1_Silent_p.A2278A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2317					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2339A(1)|p.A2140A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACTGCAGCGATGGAGTGTG	0.507													G|||	1	0.000199681	0	0	5008	,	,		21566	0		0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	cervix(2)											217	143	168					14																	94152932		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6951G>A	14.37:g.94152932G>A			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.A2339	ENST00000393151.2	37	c.7017		14																																																																																			UNC79	-	NULL		0.507	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94152932	1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	0.076	A	A	94152932	G	A	94152932	2	1	61	1	0	0	0	0	0	0	0	1	8250	1045	37	1		1	KIAA1409	14	94152932	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	5113907	94152932	13196608	216	9559										
GABRG3	2567	genome.wustl.edu	37	chr15	27222246	27222246	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acaccgacgtgactcttattCtcaacaagttgctaagagaa	7	10	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:27222246C>T	ENST00000333743.6	+	2	405	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	GABRG3_ENST00000555083.1_Missense_Mutation_p.L51F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	51					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L51F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACTCTTATTCTCAACAAGTT	0.378																																					NSCLC(114;800 1656 7410 37729 45293)												1	Substitution - Missense(1)	cervix(1)											100	100	100					15																	27222246		1836	4080	5916	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.151C>T	15.37:g.27222246C>T	ENSP00000331912:p.Leu51Phe		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L51F	ENST00000333743.6	37	c.151	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679698	0.68042	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	D;D	0.81739	-1.53;-1.53	5.28	4.36	0.52297	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000003	D	0.87253	0.6131	M	0.83012	2.62	0.58432	D	0.999994	P;P	0.51933	0.949;0.72	P;P	0.55011	0.766;0.525	D	0.89028	0.3440	10	0.87932	D	0	.	13.1425	0.59442	0.0:0.9222:0.0:0.0778	.	51;51	Q99928;G3V594	GBRG3_HUMAN;.	F	51	ENSP00000331912:L51F;ENSP00000452244:L51F	ENSP00000331912:L51F	L	+	1	0	GABRG3	24804992	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.131000	0.57970	1.350000	0.45770	0.557000	0.71058	CTC	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.378	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	C			27222246	1	no_errors	ENST00000333743	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27222246	C	T	27222246	3	4	61	1	0	0	0	0	1	0	0	0	6191	913	32	1	157	1	GABRG3	15	27222246	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		27222246	75309146	217	9560										
MTMR15	22909	genome.wustl.edu	37	chr15	31197561	31197561	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cattcctgaacatatggtaaGaggaagtaaaataatggaag	10	4	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:31197561G>A	ENST00000362065.4	+	2	986	c.695G>A	c.(694-696)aGa>aAa	p.R232K	FAN1_ENST00000565466.1_Missense_Mutation_p.R232K|FAN1_ENST00000561594.1_Missense_Mutation_p.R232K|FAN1_ENST00000561607.1_Missense_Mutation_p.R232K	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	232					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.R232K(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CATATGGTAAGAGGAAGTAAA	0.403								Direct reversal of damage																																									1	Substitution - Missense(1)	cervix(1)											53	51	52					15																	31197561		2202	4300	6502	SO:0001583	missense	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.695G>A	15.37:g.31197561G>A	ENSP00000354497:p.Arg232Lys		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.R232K	ENST00000362065.4	37	c.695	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	9.988	1.230106	0.22542	.	.	ENSG00000198690	ENST00000362065	T	0.37915	1.17	5.18	-4.44	0.03557	.	0.543081	0.20065	N	0.100000	T	0.12689	0.0308	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.28299	-1.0048	10	0.08837	T	0.75	-0.0365	1.0101	0.01495	0.3259:0.1203:0.3178:0.236	.	232;232	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	K	232	ENSP00000354497:R232K	ENSP00000354497:R232K	R	+	2	0	FAN1	28984853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.011000	0.12721	-1.018000	0.03363	-0.136000	0.14681	AGA	FAN1	-	NULL		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31197561	1	no_errors	ENST00000362065	ensembl	human	known	70_37	missense	SNP	0.000	A	A	31197561	G	A	31197561	3	1	61	1	0	0	0	0	1	0	0	0	9966	942	33	1	697	1	MTMR15	15	31197561	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3975315	31197561	71333831	218	9561										
GPR176	11245	genome.wustl.edu	37	chr15	40099335	40099335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgaggactggtgctgaggatGatgtcgaagggcacacagac	16	7	0	4			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:40099335G>A	ENST00000561100.1	-	2	1162	c.297C>T	c.(295-297)atC>atT	p.I99I	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Silent_p.I54I|GPR176_ENST00000299092.3_Silent_p.I98I	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	99					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.I99I(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TGCTGAGGATGATGTCGAAGG	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											162	154	157					15																	40099335		2203	4300	6503	SO:0001819	synonymous_variant	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.297C>T	15.37:g.40099335G>A			Q6NXF6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I99	ENST00000561100.1	37	c.297	CCDS10051.1	15																																																																																			GPR176	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	G	NM_007223		40099335	-1	no_errors	ENST00000561100	ensembl	human	known	70_37	silent	SNP	0.995	A	A	40099335	G	A	40099335	2	1	61	1	0	0	0	0	0	0	0	1	6692	1280	45	1		1	GPR176	15	40099335	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8901774	40099335	62432057	219	9562										
SLC24A5	283652	genome.wustl.edu	37	chr15	48414129	48414129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cacgagacaggagcgcagagAtggaggcatcataatctatt	12	8	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:48414129A>G	ENST00000341459.3	+	2	270	c.197A>G	c.(196-198)gAt>gGt	p.D66G	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Missense_Mutation_p.D66G	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	66					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D66G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGCGCAGAGATGGAGGCATC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											181	174	176					15																	48414129		2198	4297	6495	SO:0001583	missense	283652			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.197A>G	15.37:g.48414129A>G	ENSP00000341550:p.Asp66Gly		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.D66G	ENST00000341459.3	37	c.197	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607626	0.46527	.	.	ENSG00000188467	ENST00000341459	T	0.75154	-0.91	5.73	4.6	0.57074	.	0.209193	0.49305	D	0.000148	T	0.58935	0.2157	N	0.24115	0.695	0.80722	D	1	B;P	0.43094	0.191;0.799	B;B	0.37508	0.045;0.252	T	0.57075	-0.7873	10	0.30078	T	0.28	.	12.869	0.57955	0.8555:0.1445:0.0:0.0	.	66;66	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	G	66	ENSP00000341550:D66G	ENSP00000341550:D66G	D	+	2	0	SLC24A5	46201421	1.000000	0.71417	0.068000	0.19968	0.897000	0.52465	5.816000	0.69222	1.098000	0.41479	0.533000	0.62120	GAT	SLC24A5	-	NULL		0.418	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	A	NM_205850		48414129	1	no_errors	ENST00000341459	ensembl	human	known	70_37	missense	SNP	0.984	G	G	48414129	A	G	48414129	3	3	61	1	0	0	0	0	1	0	0	0	14499	333	12	5	203	5	SLC24A5	15	48414129	Missense_Mutation	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08	8314794	48414129	54117263	220	9563										
FBN1	2200	genome.wustl.edu	37	chr15	48703267	48703267	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtctttgtcatatttgtcttCtagttggttaagttctttct	7	6	6	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:48703267C>T	ENST00000316623.5	-	66	8991	c.8536G>A	c.(8536-8538)Gaa>Aaa	p.E2846K	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2846					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2846K(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATTTGTCTTCTAGTTGGTTA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											119	119	119					15																	48703267		2198	4297	6495	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8536G>A	15.37:g.48703267C>T	ENSP00000325527:p.Glu2846Lys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.E2846K	ENST00000316623.5	37	c.8536	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264525	0.80358	.	.	ENSG00000166147	ENST00000316623	D	0.82893	-1.66	5.57	4.64	0.57946	.	0.093937	0.64402	D	0.000001	T	0.81898	0.4920	M	0.73962	2.25	0.80722	D	1	P	0.37061	0.58	B	0.31946	0.138	T	0.82999	-0.0178	10	0.51188	T	0.08	.	16.3658	0.83321	0.0:0.8676:0.1324:0.0	.	2846	P35555	FBN1_HUMAN	K	2846	ENSP00000325527:E2846K	ENSP00000325527:E2846K	E	-	1	0	FBN1	46490559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.887000	0.63156	1.469000	0.48083	0.650000	0.86243	GAA	FBN1	-	pirsf_FBN		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C			48703267	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48703267	C	T	48703267	3	4	61	1	0	0	0	0	1	0	0	0	5720	922	32	1	83	1	FBN1	15	48703267	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	289138	48703267	53828125	221	9564										
MYO5A	4644	genome.wustl.edu	37	chr15	52671836	52671836	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tctcaccagtatcagtttctCtaacacattcttgcatgttt	4	11	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:52671836C>T	ENST00000399231.3	-	18	2437	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	MYO5A_ENST00000356338.6_Missense_Mutation_p.E732K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E732K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E732K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E732K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	732	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.E732K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATCAGTTTCTCTAACACATTC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											158	150	153					15																	52671836		1909	4141	6050	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2194G>A	15.37:g.52671836C>T	ENSP00000382177:p.Glu732Lys		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E732K	ENST00000399231.3	37	c.2194	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317237	0.81469	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	Myosin head, motor domain (2);	0.048973	0.85682	D	0.000000	T	0.80071	0.4556	N	0.17674	0.51	0.80722	D	1	B;P	0.43287	0.097;0.802	B;B	0.40677	0.058;0.337	T	0.77582	-0.2534	10	0.13470	T	0.59	.	19.4172	0.94706	0.0:1.0:0.0:0.0	.	732;732	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	732;266;732;732;732;362;732	ENSP00000382177:E732K;ENSP00000382179:E732K;ENSP00000348693:E732K;ENSP00000350945:E732K;ENSP00000451109:E732K	ENSP00000348693:E732K	E	-	1	0	MYO5A	50459128	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.858000	0.62947	2.580000	0.87095	0.655000	0.94253	GAG	MYO5A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.433	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52671836	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52671836	C	T	52671836	3	4	61	1	0	0	0	0	1	0	0	0	10101	922	32	1	3469	1	MYO5A	15	52671836	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3968569	52671836	49859556	222	9565										
CCPG1	9236	genome.wustl.edu	37	chr15	55652788	55652788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctggagttccccccttaaagCcgtagttactagtcgttctc	8	13	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:55652788C>A	ENST00000310958.6	-	8	1481	c.1183G>T	c.(1183-1185)Gct>Tct	p.A395S	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.A395S|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.A395S	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	395					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.A395S(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CCCCTTAAAGCCGTAGTTACT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											96	92	93					15																	55652788		1880	4110	5990	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1183G>T	15.37:g.55652788C>A	ENSP00000311656:p.Ala395Ser		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.A395S	ENST00000310958.6	37	c.1183	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	4.261	0.047561	0.08243	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.39787	1.06;1.06	5.73	2.8	0.32819	.	0.303900	0.40908	N	0.000982	T	0.42426	0.1202	M	0.63843	1.955	0.37553	D	0.918784	P;P;P;P	0.51537	0.897;0.828;0.897;0.946	B;B;B;P	0.48677	0.432;0.16;0.432;0.586	T	0.39860	-0.9593	10	0.21540	T	0.41	.	8.0283	0.30451	0.1298:0.7332:0.0:0.137	.	395;395;395;251	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	S	395	ENSP00000311656:A395S;ENSP00000403400:A395S	ENSP00000311656:A395S	A	-	1	0	DYX1C1	53440080	0.961000	0.32948	0.006000	0.13384	0.030000	0.12068	2.235000	0.43044	0.420000	0.25954	-0.150000	0.13652	GCT	CCPG1	-	NULL		0.408	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55652788	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.690	A	A	55652788	C	A	55652788	3	1	61	1	0	0	0	0	1	0	0	0	2943	739	26	4	1094	4	CCPG1	15	55652788	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2980952	55652788	46878604	223	9566										
TEX9	374618	genome.wustl.edu	37	chr15	56686955	56686955	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atatgcaacagtctcaagtaGaaaaatacaaaactcttttc	4	8	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:56686955G>C	ENST00000352903.2	+	9	775	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	TEX9_ENST00000537232.1_Missense_Mutation_p.E176Q|TEX9_ENST00000561221.2_Missense_Mutation_p.E251Q|TEX9_ENST00000560582.1_Missense_Mutation_p.E7Q|TEX9_ENST00000558083.2_Missense_Mutation_p.E176Q|RP11-48G14.2_ENST00000564401.1_lincRNA	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											46	50	49					15																	56686955		2192	4284	6476	SO:0001583	missense	374618			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.751G>C	15.37:g.56686955G>C	ENSP00000342169:p.Glu251Gln		B4DH73	Missense_Mutation	SNP	NULL	p.E251Q	ENST00000352903.2	37	c.751	CCDS10157.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088715	0.76756	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	T;T	0.80566	-1.39;-1.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.90277	0.6959	M	0.82323	2.585	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.91114	0.4924	10	0.56958	D	0.05	-28.4564	17.4112	0.87486	0.0:0.0:1.0:0.0	.	176;251	B4DH73;Q8N6V9	.;TEX9_HUMAN	Q	251;176	ENSP00000342169:E251Q;ENSP00000438745:E176Q	ENSP00000342169:E251Q	E	+	1	0	TEX9	54474247	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.535000	0.82014	2.453000	0.82957	0.591000	0.81541	GAA	TEX9	-	NULL		0.303	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX9	HGNC	protein_coding	OTTHUMT00000255048.2	G	NM_198524		56686955	1	no_errors	ENST00000352903	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56686955	G	C	56686955	3	2	61	1	0	0	0	0	1	0	0	0	15814	943	33	1	785	1	TEX9	15	56686955	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1034167	56686955	45844437	224	9567										
CSNK1G1	53944	genome.wustl.edu	37	chr15	64496789	64496789	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aaggtaggttgccatctcctCtgttaggaaagagatgaaag	12	6	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:64496789C>G	ENST00000303052.7	-	9	1274		c.e9-1		CSNK1G1_ENST00000607537.1_Splice_Site|CSNK1G1_ENST00000303032.6_Splice_Site|CTD-2116N17.1_ENST00000606793.1_Splice_Site	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1						Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GCCATCTCCTCTGTTAGGAAA	0.438																																																	2	Unknown(2)	cervix(2)											88	83	85					15																	64496789		2203	4300	6503	SO:0001630	splice_region_variant	53944			AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.851-1G>C	15.37:g.64496789C>G			Q5JPH1|Q96AE9|Q9HCP1	Splice_Site	SNP	-	e8-1	ENST00000303052.7	37	c.851-1	CCDS10192.2	15	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814415	0.90790	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK1G1	62283842	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	.	CSNK1G1	-	-		0.438	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	CSNK1G1	HGNC	protein_coding	OTTHUMT00000256605.1	C	NM_022048	Intron	64496789	-1	no_errors	ENST00000303052	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	64496789	C	G	64496789	5	3	61	1	0	0	0	0	0	0	1	0	3959	927	32	1	434	1	CSNK1G1	15	64496789	Splice_Site	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7809834	64496789	38034603	225	9568										
DENND4A	10260	genome.wustl.edu	37	chr15	66048590	66048590	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caatccagttggggtaacatCaatacagatataatcctgtg	8	8	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:66048590C>G	ENST00000431932.2	-	3	407	c.199G>C	c.(199-201)Gat>Cat	p.D67H	DENND4A_ENST00000443035.3_Missense_Mutation_p.D67H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	67	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D67H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGGGTAACATCAATACAGATA	0.393																																																	2	Substitution - Missense(2)	cervix(2)											72	66	68					15																	66048590		1827	4089	5916	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.199G>C	15.37:g.66048590C>G	ENSP00000396830:p.Asp67His		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.D67H	ENST00000431932.2	37	c.199	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028347	0.75390	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.22336	1.96;1.96	5.6	5.6	0.85130	MABP domain (1);	0.053072	0.64402	D	0.000001	T	0.41604	0.1166	L	0.48642	1.525	0.80722	D	1	P;D;D	0.89917	0.819;1.0;1.0	P;D;D	0.66602	0.519;0.945;0.923	T	0.15983	-1.0418	10	0.87932	D	0	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	67;67;67	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	67	ENSP00000391167:D67H;ENSP00000396830:D67H	ENSP00000396830:D67H	D	-	1	0	DENND4A	63835644	1.000000	0.71417	0.696000	0.30242	0.485000	0.33311	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	GAT	DENND4A	-	pfscan_uDENN_dom		0.393	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		66048590	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66048590	C	G	66048590	3	3	61	1	0	0	0	0	1	0	0	0	4443	826	29	1	5645	1	DENND4A	15	66048590	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	1551801	66048590	36482802	226	9569										
NPTN	27020	genome.wustl.edu	37	chr15	73889684	73889684	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtcccccgtgagcttagtttCtgacatgggcgacttgacaa	11	11	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:73889684C>G	ENST00000345330.4	-	2	315	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	NPTN_ENST00000542234.1_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.E40Q|NPTN_ENST00000545878.1_Missense_Mutation_p.E40Q|NPTN_ENST00000563691.1_Missense_Mutation_p.E40Q|NPTN_ENST00000351217.6_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	40	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)	p.E40Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGCTTAGTTTCTGACATGGGC	0.532																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												1	Substitution - Missense(1)	cervix(1)											35	35	35					15																	73889684		2198	4294	6492	SO:0001583	missense	27020			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17867	protein-coding gene	gene with protein product		612820	"stromal cell derived factor receptor 1"	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.118G>C	15.37:g.73889684C>G	ENSP00000290401:p.Glu40Gln		B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E40Q	ENST00000345330.4	37	c.118	CCDS10249.1	15	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205885	0.39003	.	.	ENSG00000156642	ENST00000345330;ENST00000545878;ENST00000287226	T;T;T	0.02446	4.29;4.29;4.29	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050406	0.85682	D	0.000000	T	0.03959	0.0111	N	0.01277	-0.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71590	-0.4547	10	0.12766	T	0.61	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	40;40	Q9Y639-5;Q9Y639	.;NPTN_HUMAN	Q	40	ENSP00000290401:E40Q;ENSP00000444548:E40Q;ENSP00000287226:E40Q	ENSP00000287226:E40Q	E	-	1	0	NPTN	71676737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.684000	0.84104	2.793000	0.96121	0.655000	0.94253	GAA	NPTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.532	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	C	NM_012428		73889684	-1	no_errors	ENST00000345330	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73889684	C	G	73889684	3	3	61	1	0	0	0	0	1	0	0	0	10625	922	32	1	1106	1	NPTN	15	73889684	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7841094	73889684	28641708	227	9570										
EDC3	80153	genome.wustl.edu	37	chr15	74948272	74948272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtcaaaaagagccaggttccCttcaaaatcaaaatctgtgt	7	9	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:74948272C>T	ENST00000315127.4	-	4	803	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	EDC3_ENST00000568176.1_Missense_Mutation_p.G208R|EDC3_ENST00000426797.3_Missense_Mutation_p.G208R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	208	DFDF. {ECO:0000255|PROSITE- ProRule:PRU00845}.|Required for interaction with DDX6. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.G208R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCAGGTTCCCTTCAAAATCA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											105	104	104					15																	74948272		2197	4296	6493	SO:0001583	missense	80153			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.622G>A	15.37:g.74948272C>T	ENSP00000320503:p.Gly208Arg		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.G208R	ENST00000315127.4	37	c.622	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296270	0.60086	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.54	5.54	0.83059	DFDF motif (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.43152	1.355	0.80722	D	1	B	0.17667	0.023	B	0.23419	0.046	T	0.51092	-0.8749	9	0.22109	T	0.4	-17.2821	18.4544	0.90714	0.0:1.0:0.0:0.0	.	208	Q96F86	EDC3_HUMAN	R	208	.	ENSP00000320503:G208R	G	-	1	0	EDC3	72735325	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.274000	0.78538	2.592000	0.87571	0.655000	0.94253	GGG	EDC3	-	pfam_FDF_dom		0.453	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	C	NM_025083		74948272	-1	no_errors	ENST00000315127	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74948272	C	T	74948272	3	4	61	1	0	0	0	0	1	0	0	0	4917	681	24	4	920	4	EDC3	15	74948272	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	1058588	74948272	27583120	228	9571										
PPCDC	60490	genome.wustl.edu	37	chr15	75335866	75335866	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcaccctctacagcgacgctGatgaatgggaggtcagtgct	12	11	3	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:75335866G>A	ENST00000342932.3	+	3	364	c.220G>A	c.(220-222)Gat>Aat	p.D74N	PPCDC_ENST00000567336.1_Intron|PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000563393.1_De_novo_Start_OutOfFrame|PPCDC_ENST00000568649.1_Missense_Mutation_p.D74N	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	74					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)	p.D74N(1)		breast(1)|cervix(1)	2						CAGCGACGCTGATGAATGGGA	0.557											OREG0023296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											77	60	66					15																	75335866		2197	4295	6492	SO:0001583	missense	60490			AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.220G>A	15.37:g.75335866G>A	ENSP00000343190:p.Asp74Asn	1159	Q96SX0|Q9HC17	Missense_Mutation	SNP	pfam_Flavoprotein,superfamily_Flavoprotein	p.D74N	ENST00000342932.3	37	c.220	CCDS10275.1	15	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877387	0.72294	.	.	ENSG00000138621	ENST00000342932	T	0.44881	0.91	5.54	4.63	0.57726	Flavoprotein (3);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.74258	2.255	0.80722	D	1	B	0.27910	0.193	B	0.42030	0.373	T	0.56565	-0.7958	10	0.51188	T	0.08	-15.3356	13.7241	0.62748	0.0738:0.0:0.9262:0.0	.	74	Q96CD2	COAC_HUMAN	N	74	ENSP00000343190:D74N	ENSP00000343190:D74N	D	+	1	0	PPCDC	73122919	1.000000	0.71417	0.996000	0.52242	0.647000	0.38526	5.734000	0.68580	1.356000	0.45884	-0.215000	0.12644	GAT	PPCDC	-	pfam_Flavoprotein,superfamily_Flavoprotein		0.557	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPCDC	HGNC	protein_coding	OTTHUMT00000286416.1	G	NM_021823		75335866	1	no_errors	ENST00000342932	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75335866	G	A	75335866	3	1	61	1	0	0	0	0	1	0	0	0	12328	1290	45	1	226	1	PPCDC	15	75335866	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	387594	75335866	27195526	229	9572										
KIF7	374654	genome.wustl.edu	37	chr15	90190075	90190075	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tctcacctctcccctctgctCagagccaacttcatctccag	4	19	6	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:90190075C>G	ENST00000394412.3	-	7	1850	c.1774G>C	c.(1774-1776)Gag>Cag	p.E592Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	592	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E79Q(1)|p.E592Q(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCTCTGCTCAGAGCCAACT	0.662											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	cervix(2)											65	52	57					15																	90190075		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1774G>C	15.37:g.90190075C>G	ENSP00000377934:p.Glu592Gln	1273	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E592Q	ENST00000394412.3	37	c.1774	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	c	9.222	1.033607	0.19590	.	.	ENSG00000166813	ENST00000394412	T	0.70282	-0.47	5.17	4.24	0.50183	.	0.894234	0.09726	N	0.763782	T	0.60483	0.2272	L	0.36672	1.1	0.09310	N	1	P;B	0.40476	0.718;0.396	B;B	0.41036	0.346;0.099	T	0.48581	-0.9023	10	0.25751	T	0.34	.	7.0587	0.25113	0.1689:0.7398:0.0:0.0913	.	79;592	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	592	ENSP00000377934:E592Q	ENSP00000377934:E592Q	E	-	1	0	KIF7	87991079	0.000000	0.05858	0.555000	0.28281	0.829000	0.46940	0.013000	0.13310	2.394000	0.81467	0.457000	0.33378	GAG	KIF7	-	NULL		0.662	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90190075	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.001	G	G	90190075	C	G	90190075	3	3	61	1	0	0	0	0	1	0	0	0	8329	835	29	1	2309	1	KIF7	15	90190075	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	14854209	90190075	12341317	230	9573										
IGF1R	3480	genome.wustl.edu	37	chr15	99500353	99500353	+	Silent	SNP	C	C	T													0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aggccttccttcctggagatCatcagcagcatcaaagagga							TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:99500353C>T	ENST00000268035.6	+	21	4397	c.3786C>T	c.(3784-3786)atC>atT	p.I1262I	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.I1261I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.I1262I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCCTGGAGATCATCAGCAGCA	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											83	82	82					15																	99500353		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3786C>T	15.37:g.99500353C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.I1262	ENST00000268035.6	37	c.3786	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,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,pfscan_Prot_kinase_cat_dom		0.587	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99500353	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	T	T	99500353	C	T	99500353	2	4	61	1	0	0	0	0	0	0	0	1	7591	816	29	1		1	IGF1R	15	99500353	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	9310278	99500353	3031039	231	9574	47	2								
IGF1R	3480	genome.wustl.edu	37	chr15	99500356	99500356	+	Silent	SNP	C	C	A													0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccttccttcctggagatcatCagcagcatcaaagaggagat							TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:99500356C>A	ENST00000268035.6	+	21	4400	c.3789C>A	c.(3787-3789)atC>atA	p.I1263I	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.I1262I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.I1263I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGGAGATCATCAGCAGCATCA	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											81	81	81					15																	99500356		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3789C>A	15.37:g.99500356C>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.I1263	ENST00000268035.6	37	c.3789	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,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,pfscan_Prot_kinase_cat_dom		0.582	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99500356	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	0.988	A	A	99500356	C	A	99500356	2	1	61	1	0	0	0	0	0	0	0	1	7591	816	29	3		3	IGF1R	15	99500356	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3	99500356	3031036	232	9575	47	2								
ADAMTS17	170691	genome.wustl.edu	37	chr15	100695466	100695466	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggcctttcacccactctcctGacatgatgtgggacctgcca	9	15	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:100695466G>C	ENST00000268070.4	-	9	1346	c.1241C>G	c.(1240-1242)tCa>tGa	p.S414*		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	414	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S414*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACTCTCCTGACATGATGTG	0.527																																																	1	Substitution - Nonsense(1)	cervix(1)											90	80	83					15																	100695466		2203	4300	6503	SO:0001587	stop_gained	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1241C>G	15.37:g.100695466G>C	ENSP00000268070:p.Ser414*		Q2I7G4|Q6ZN75	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S414*	ENST00000268070.4	37	c.1241	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	40	7.987164	0.98596	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1285	0.93396	0.0:0.0:1.0:0.0	.	.	.	.	X	414;171	.	ENSP00000268070:S414X	S	-	2	0	ADAMTS17	98512989	1.000000	0.71417	0.952000	0.39060	0.952000	0.60782	8.849000	0.92178	2.489000	0.83994	0.655000	0.94253	TCA	ADAMTS17	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	G	NM_139057		100695466	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	100695466	G	C	100695466	4	2	61	1	0	0	0	0	0	1	0	0	262	1294	45	1	2102	1	ADAMTS17	15	100695466	Nonsense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1195110	100695466	1835926	233	9576										
SRRM2	23524	genome.wustl.edu	37	chr16	2812813	2812813	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cttcaaggcggagcaggtctCtctcttcaccacggtccaaa	9	14	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:2812813C>G	ENST00000301740.8	+	11	2833	c.2284C>G	c.(2284-2286)Ctc>Gtc	p.L762V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	762	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.L762F(1)|p.L762V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCAGGTCTCTCTCTTCACC	0.483																																																	2	Substitution - Missense(2)	cervix(1)|kidney(1)											124	129	127					16																	2812813		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2284C>G	16.37:g.2812813C>G	ENSP00000301740:p.Leu762Val		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.L762V	ENST00000301740.8	37	c.2284	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.304095	0.01353	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.25085	1.82	5.62	2.52	0.30459	.	0.369852	0.23316	N	0.049509	T	0.12774	0.0310	N	0.14661	0.345	0.27115	N	0.962287	B	0.06786	0.001	B	0.10450	0.005	T	0.31861	-0.9928	10	0.13108	T	0.6	-1.7338	9.417	0.38528	0.0:0.6315:0.2917:0.0768	.	762	Q9UQ35	SRRM2_HUMAN	V	762;762;14;727	ENSP00000301740:L762V	ENSP00000301740:L762V	L	+	1	0	SRRM2	2752814	0.576000	0.26700	0.936000	0.37596	0.492000	0.33523	0.207000	0.17395	0.284000	0.22305	-0.211000	0.12701	CTC	SRRM2	-	NULL		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2812813	1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.996	G	G	2812813	C	G	2812813	3	3	61	1	0	0	0	0	1	0	0	0	15199	913	32	1	2322	1	SRRM2	16	2812813	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		2812813	87541940	234	9577										
SCNN1G	6340	genome.wustl.edu	37	chr16	23224213	23224213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aatggccatctgtggtttcgGaggtaagttcttctgcccac	11	10	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:23224213G>C	ENST00000300061.2	+	10	1572	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	477					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.E477Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTGGTTTCGGAGGTAAGTTC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											73	66	68					16																	23224213		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1429G>C	16.37:g.23224213G>C	ENSP00000300061:p.Glu477Gln		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E477Q	ENST00000300061.2	37	c.1429	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924931	0.34002	.	.	ENSG00000166828	ENST00000300061	T	0.63417	-0.04	4.88	4.88	0.63580	.	0.144833	0.48286	D	0.000193	T	0.57989	0.2091	L	0.35288	1.05	0.42504	D	0.992945	P	0.48834	0.916	P	0.48141	0.568	T	0.57423	-0.7814	10	0.32370	T	0.25	-26.8374	14.758	0.69583	0.0:0.0:1.0:0.0	.	477	P51170	SCNNG_HUMAN	Q	477	ENSP00000300061:E477Q	ENSP00000300061:E477Q	E	+	1	0	SCNN1G	23131714	1.000000	0.71417	0.925000	0.36789	0.516000	0.34256	5.220000	0.65267	2.243000	0.73865	0.561000	0.74099	GAG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	G	NM_001039		23224213	1	no_errors	ENST00000300061	ensembl	human	known	70_37	missense	SNP	0.972	C	C	23224213	G	C	23224213	3	2	61	1	0	0	0	0	1	0	0	0	13960	1175	41	1	1463	1	SCNN1G	16	23224213	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	20411400	23224213	67130540	235	9578										
PRKCB	5579	genome.wustl.edu	37	chr16	24166139	24166139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttggccctgcctgggaagccGcccttcctgacccagctcca	10	18	0	1	rs141827066	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:24166139G>A	ENST00000321728.7	+	10	1375	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_ENST00000303531.7_Silent_p.P400P	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P400P(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567																																																	3	Substitution - coding silent(3)	cervix(2)|central_nervous_system(1)											116	86	96					16																	24166139		2197	4300	6497	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1200G>A	16.37:g.24166139G>A			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.P400	ENST00000321728.7	37	c.1200	CCDS10618.1	16																																																																																			PRKCB	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	G	NM_212535		24166139	1	no_errors	ENST00000303531	ensembl	human	known	70_37	silent	SNP	0.055	A	A	24166139	G	A	24166139	2	1	61	1	0	0	0	0	0	0	0	1	12535	1074	38	2		2	PRKCB	16	24166139	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	941926	24166139	66188614	236	9579										
TNRC6A	27327	genome.wustl.edu	37	chr16	24831599	24831599	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cctccgggactgactggtcaGaagccacccttgtctacgtg	11	14	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:24831599G>T	ENST00000395799.3	+	22	5349	c.5220G>T	c.(5218-5220)caG>caT	p.Q1740H	TNRC6A_ENST00000432286.2_Missense_Mutation_p.Q218H|TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q1691H|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1740	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q1740H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGACTGGTCAGAAGCCACCCT	0.532																																																	1	Substitution - Missense(1)	cervix(1)											119	114	116					16																	24831599		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5220G>T	16.37:g.24831599G>T	ENSP00000379144:p.Gln1740His		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.Q1740H	ENST00000395799.3	37	c.5220	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437567|4.437567	0.83885|0.83885	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T	.|0.13196	.|2.62;2.61	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.34890	.|0.0913	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.85130	.|0.997;0.993	.|T	.|0.00451	.|-1.1731	.|10	.|0.45353	.|T	.|0.12	-4.6794|-4.6794	20.04|20.04	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1691;1740	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	X|H	631|1691;1740;218	.|ENSP00000326900:Q1691H;ENSP00000379144:Q1740H	.|ENSP00000326900:Q1691H	E|Q	+|+	1|3	0|2	TNRC6A|TNRC6A	24739100|24739100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.285000|5.285000	0.65633|0.65633	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAA|CAG	TNRC6A	-	NULL		0.532	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	G	NM_020847		24831599	1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24831599	G	T	24831599	3	4	61	1	0	0	0	0	1	0	0	0	16370	933	33	3	5306	3	TNRC6A	16	24831599	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	665460	24831599	65523154	237	9580										
KCTD13	253980	genome.wustl.edu	37	chr16	29922489	29922489	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcttaagtaggttgtcatctGaagtgctggggaccagggga	15	6	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:29922489G>A	ENST00000568000.1	-	5	1564	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	188					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)	p.S188L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GTTGTCATCTGAAGTGCTGGG	0.607																																																	1	Substitution - Missense(1)	cervix(1)											69	50	57					16																	29922489		2197	4300	6497	SO:0001583	missense	253980			AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"polymerase delta-interacting protein 1", "TNFAIP1-like"	608947	"potassium channel tetramerisation domain containing 13"			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.563C>T	16.37:g.29922489G>A	ENSP00000455785:p.Ser188Leu		A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.S188L	ENST00000568000.1	37	c.563	CCDS10661.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998167	0.74818	.	.	ENSG00000174943	ENST00000308768	T	0.58060	0.36	5.43	4.47	0.54385	.	0.536737	0.15974	N	0.235602	T	0.69387	0.3105	M	0.79011	2.435	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.73091	-0.4092	10	0.87932	D	0	.	13.1443	0.59452	0.0777:0.0:0.9223:0.0	.	188	Q8WZ19	BACD1_HUMAN	L	188	ENSP00000311202:S188L	ENSP00000311202:S188L	S	-	2	0	KCTD13	29829990	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.544000	0.98092	1.525000	0.49052	0.650000	0.86243	TCA	KCTD13	-	NULL		0.607	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	KCTD13	HGNC	protein_coding	OTTHUMT00000255162.2	G	NM_178863		29922489	-1	no_errors	ENST00000308768	ensembl	human	known	70_37	missense	SNP	0.999	A	A	29922489	G	A	29922489	3	1	61	1	0	0	0	0	1	0	0	0	8120	1294	45	1	434	1	KCTD13	16	29922489	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	5090890	29922489	60432264	238	9581										
ITGAL	3683	genome.wustl.edu	37	chr16	30485563	30485563	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtgcggggcgcgcggagcttCtccccaccgcgcgccgggag	18	16	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30485563C>T	ENST00000356798.6	+	2	288	c.108C>T	c.(106-108)ttC>ttT	p.F36F	ITGAL_ENST00000433423.2_Silent_p.F36F|ITGAL_ENST00000454514.2_Silent_p.F36F|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Silent_p.F36F|Y_RNA_ENST00000410769.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	36					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.F36F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CGCGGAGCTTCTCCCCACCGC	0.706																																					NSCLC(110;1462 1641 3311 33990 49495)												1	Substitution - coding silent(1)	cervix(1)											20	22	21					16																	30485563		2181	4257	6438	SO:0001819	synonymous_variant	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.108C>T	16.37:g.30485563C>T			O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F36	ENST00000356798.6	37	c.108	CCDS32433.1	16																																																																																			ITGAL	-	NULL		0.706	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	C			30485563	1	no_errors	ENST00000356798	ensembl	human	known	70_37	silent	SNP	0.904	T	T	30485563	C	T	30485563	2	4	61	1	0	0	0	0	0	0	0	1	7906	912	32	1		1	ITGAL	16	30485563	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	563074	30485563	59869190	239	9582										
SRCAP	10847	genome.wustl.edu	37	chr16	30721400	30721400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atctcatgatagtgacacccGagatgggcctgaagaaggtg	13	8	1	5			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30721400G>A	ENST00000262518.4	+	8	1470	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.R362Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.R362Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	362	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R362Q(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGACACCCGAGATGGGCCT	0.582																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											42	41	41					16																	30721400		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1085G>A	16.37:g.30721400G>A	ENSP00000262518:p.Arg362Gln		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R362Q	ENST00000262518.4	37	c.1085	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672773	0.29693	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90444	-2.66;-2.67;-2.67	5.39	-2.95	0.05564	.	0.952302	0.08693	N	0.907651	T	0.78207	0.4247	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.62515	-0.6838	10	0.10111	T	0.7	1.2215	6.4017	0.21642	0.5721:0.1431:0.2848:0.0	.	362;362	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	Q	362	ENSP00000262518:R362Q;ENSP00000378499:R362Q;ENSP00000343042:R362Q	ENSP00000262518:R362Q	R	+	2	0	SRCAP	30628901	0.000000	0.05858	0.021000	0.16686	0.990000	0.78478	-0.156000	0.10100	-0.319000	0.08652	0.655000	0.94253	CGA	SRCAP	-	NULL		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30721400	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.003	A	A	30721400	G	A	30721400	3	1	61	1	0	0	0	0	1	0	0	0	15165	1058	37	1	1107	1	SRCAP	16	30721400	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	235837	30721400	59633353	240	9583										
SRCAP	10847	genome.wustl.edu	37	chr16	30723240	30723240	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aagttcagcatcagaggaatCtgagtctgaagagtctgagg	13	6	5	5			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30723240C>T	ENST00000262518.4	+	12	1962	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.S526F|SRCAP_ENST00000395059.2_Missense_Mutation_p.S526F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	526	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S526F(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCAGAGGAATCTGAGTCTGAA	0.483																																																	1	Substitution - Missense(1)	cervix(1)											83	82	82					16																	30723240		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1577C>T	16.37:g.30723240C>T	ENSP00000262518:p.Ser526Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S526F	ENST00000262518.4	37	c.1577	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	9.308	1.054849	0.19907	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91577	-2.87;-2.84;-2.85	4.86	4.86	0.63082	.	0.000000	0.52532	D	0.000079	D	0.92143	0.7509	L	0.36672	1.1	0.39196	D	0.96306	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.80764	0.994;0.994;0.986	D	0.92577	0.6071	10	0.54805	T	0.06	-15.384	13.6696	0.62416	0.0:1.0:0.0:0.0	.	526;526;526	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	F	526	ENSP00000262518:S526F;ENSP00000378499:S526F;ENSP00000343042:S526F	ENSP00000262518:S526F	S	+	2	0	SRCAP	30630741	0.912000	0.30974	0.997000	0.53966	0.745000	0.42441	1.918000	0.40006	2.675000	0.91044	0.563000	0.77884	TCT	SRCAP	-	NULL		0.483	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30723240	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30723240	C	T	30723240	3	4	61	1	0	0	0	0	1	0	0	0	15165	913	32	1	1615	1	SRCAP	16	30723240	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	1840	30723240	59631513	241	9584										
SRCAP	10847	genome.wustl.edu	37	chr16	30723395	30723395	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctactccagggcccactactCtaggtccaaagaaagaaatt	7	12	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30723395C>G	ENST00000262518.4	+	12	2117	c.1732C>G	c.(1732-1734)Cta>Gta	p.L578V	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.L578V|SRCAP_ENST00000395059.2_Missense_Mutation_p.L578V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	578					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.L578V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCACTACTCTAGGTCCAAA	0.547																																																	1	Substitution - Missense(1)	cervix(1)											83	81	82					16																	30723395		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1732C>G	16.37:g.30723395C>G	ENSP00000262518:p.Leu578Val		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.L578V	ENST00000262518.4	37	c.1732	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572426	0.13623	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91011	-2.77;-2.74;-2.72	4.66	0.566	0.17317	.	0.000000	0.37857	N	0.001904	T	0.77377	0.4121	N	0.14661	0.345	0.29090	N	0.882162	B;B;B	0.33637	0.42;0.42;0.296	B;B;B	0.32289	0.09;0.143;0.068	T	0.68899	-0.5287	10	0.28530	T	0.3	-10.7101	6.3003	0.21109	0.0:0.5851:0.0:0.4149	.	578;578;578	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	578	ENSP00000262518:L578V;ENSP00000378499:L578V;ENSP00000343042:L578V	ENSP00000262518:L578V	L	+	1	2	SRCAP	30630896	0.819000	0.29175	0.997000	0.53966	0.893000	0.52053	1.497000	0.35649	0.299000	0.22661	-0.251000	0.11542	CTA	SRCAP	-	NULL		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30723395	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.985	G	G	30723395	C	G	30723395	3	3	61	1	0	0	0	0	1	0	0	0	15165	912	32	1	1770	1	SRCAP	16	30723395	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	155	30723395	59631358	242	9585										
SHCBP1	79801	genome.wustl.edu	37	chr16	46655178	46655178	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggagagctcacctttctccaGagacgccagctcctgctcca	9	16	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:46655178G>A	ENST00000303383.3	-	1	360	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	RP11-46D6.1_ENST00000574180.1_lincRNA|SHCBP1_ENST00000564272.1_5'UTR	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	32					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.L32L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCTTTCTCCAGAGACGCCAGC	0.716																																																	1	Substitution - coding silent(1)	cervix(1)											20	24	23					16																	46655178		2175	4266	6441	SO:0001819	synonymous_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.94C>T	16.37:g.46655178G>A			Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.L32	ENST00000303383.3	37	c.94	CCDS10720.1	16																																																																																			SHCBP1	-	NULL		0.716	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	HGNC	protein_coding	OTTHUMT00000255740.1	G	NM_024745		46655178	-1	no_errors	ENST00000303383	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46655178	G	A	46655178	2	1	61	1	0	0	0	0	0	0	0	1	14304	933	33	1		1	SHCBP1	16	46655178	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	15931783	46655178	43699575	243	9586										
CNGB1	1258	genome.wustl.edu	37	chr16	57953058	57953058	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcttccaggggcggtgtttGaacttgcagcagagcatgtc	13	9	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:57953058G>C	ENST00000251102.8	-	20	1962	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L	CNGB1_ENST00000564448.1_Missense_Mutation_p.F628L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	634					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.F634L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGCGGTGTTTGAACTTGCAGC	0.572																																					Colon(156;1293 1853 16336 28962 38659)												1	Substitution - Missense(1)	cervix(1)											107	110	109					16																	57953058		2001	4181	6182	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1902C>G	16.37:g.57953058G>C	ENSP00000251102:p.Phe634Leu		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F634L	ENST00000251102.8	37	c.1902	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800959	0.50315	.	.	ENSG00000070729	ENST00000251102	D	0.96856	-4.15	4.53	4.53	0.55603	.	0.105342	0.42420	D	0.000719	D	0.93252	0.7850	L	0.50333	1.59	0.80722	D	1	B;B	0.24823	0.002;0.112	B;B	0.26864	0.006;0.074	D	0.89393	0.3690	10	0.25751	T	0.34	.	10.0448	0.42180	0.0937:0.0:0.9063:0.0	.	6;634	Q14028-2;Q14028	.;CNGB1_HUMAN	L	634	ENSP00000251102:F634L	ENSP00000251102:F634L	F	-	3	2	CNGB1	56510559	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.691000	0.61738	2.524000	0.85096	0.561000	0.74099	TTC	CNGB1	-	NULL		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	G	NM_001297		57953058	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57953058	G	C	57953058	3	2	61	1	0	0	0	0	1	0	0	0	3605	1281	45	1	1909	1	CNGB1	16	57953058	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11297880	57953058	32401695	244	9587										
SLC9A5	6553	genome.wustl.edu	37	chr16	67288978	67288978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gctgtttgggagcctcatctCggcggtggaccccgtggccg	16	13	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67288978C>T	ENST00000299798.11	+	3	610	c.545C>T	c.(544-546)tCg>tTg	p.S182L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	182					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S182L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGCCTCATCTCGGCGGTGGAC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											80	87	85					16																	67288978		2134	4273	6407	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.545C>T	16.37:g.67288978C>T	ENSP00000299798:p.Ser182Leu		A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S182L	ENST00000299798.11	37	c.545	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856522	0.71834	.	.	ENSG00000135740	ENST00000299798	T	0.24723	1.84	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66200	-0.5983	10	0.87932	D	0	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	182	Q14940	SL9A5_HUMAN	L	182	ENSP00000299798:S182L	ENSP00000299798:S182L	S	+	2	0	SLC9A5	65846479	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	TCG	SLC9A5	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.562	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	C			67288978	1	no_errors	ENST00000299798	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67288978	C	T	67288978	3	4	61	1	0	0	0	0	1	0	0	0	14747	893	31	1	555	1	SLC9A5	16	67288978	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	9335920	67288978	23065775	245	9588										
ZDHHC1	29800	genome.wustl.edu	37	chr16	67432778	67432778	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttgacaaagaactccacgaaGacatatgtggccaccagcac	8	12	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67432778G>C	ENST00000348579.2	-	6	941	c.600C>G	c.(598-600)gtC>gtG	p.V200V	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	200					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V200V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ACTCCACGAAGACATATGTGG	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											86	78	81					16																	67432778		2198	4300	6498	SO:0001819	synonymous_variant	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.600C>G	16.37:g.67432778G>C			O15461	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.V200	ENST00000348579.2	37	c.600	CCDS10836.1	16																																																																																			ZDHHC1	-	NULL		0.582	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	G	NM_013304		67432778	-1	no_errors	ENST00000348579	ensembl	human	known	70_37	silent	SNP	1.000	C	C	67432778	G	C	67432778	2	2	61	1	0	0	0	0	0	0	0	1	17630	929	33	1		1	ZDHHC1	16	67432778	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	143800	67432778	22921975	246	9589										
RLTPR	146206	genome.wustl.edu	37	chr16	67688786	67688786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gccgaggcagcgggggtgccGaaggcaagaggaagcaagtg	20	8	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67688786G>A	ENST00000334583.6	+	32	4016	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K	RLTPR_ENST00000545661.1_Missense_Mutation_p.E1194K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1230					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1230K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGGGGGTGCCGAAGGCAAGAG	0.577																																																	2	Substitution - Missense(2)	cervix(2)											40	48	45					16																	67688786		2176	4269	6445	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3688G>A	16.37:g.67688786G>A	ENSP00000334958:p.Glu1230Lys		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1230K	ENST00000334583.6	37	c.3688	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990427	0.74589	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.19105	2.23;2.17	5.99	5.99	0.97316	.	0.107968	0.41605	D	0.000859	T	0.23688	0.0573	N	0.14661	0.345	0.41741	D	0.989612	D;D	0.69078	0.997;0.997	P;P	0.51742	0.678;0.678	T	0.02220	-1.1193	10	0.66056	D	0.02	-13.0323	18.6582	0.91462	0.0:0.0:1.0:0.0	.	1194;1230	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	K	1230;327;1194	ENSP00000334958:E1230K;ENSP00000441481:E1194K	ENSP00000334958:E1230K	E	+	1	0	RLTPR	66246287	1.000000	0.71417	0.944000	0.38274	0.555000	0.35460	5.788000	0.69020	2.840000	0.97914	0.655000	0.94253	GAA	RLTPR	-	NULL		0.577	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67688786	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.972	A	A	67688786	G	A	67688786	3	1	61	1	0	0	0	0	1	0	0	0	13424	1059	37	1	3814	1	RLTPR	16	67688786	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	256008	67688786	22665967	247	9590										
SLC12A4	6560	genome.wustl.edu	37	chr16	67986291	67986291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcgacgtgtcatgagcacccGatgggtaaaaaatggcagct	12	9	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67986291G>A	ENST00000316341.3	-	7	853	c.713C>T	c.(712-714)tCg>tTg	p.S238L	SLC12A4_ENST00000338335.3_Missense_Mutation_p.S238L|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.S232L|SLC12A4_ENST00000422611.2_Missense_Mutation_p.S240L|SLC12A4_ENST00000572037.1_Missense_Mutation_p.S190L|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S207L|SLC12A4_ENST00000576616.1_Missense_Mutation_p.S238L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	238					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.S238L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGAGCACCCGATGGGTAAAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											133	130	131					16																	67986291		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.713C>T	16.37:g.67986291G>A	ENSP00000318557:p.Ser238Leu		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.S240L	ENST00000316341.3	37	c.719	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	G	4.191	0.034173	0.08101	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	4.96	0.568	0.17333	Amino acid permease domain (1);	0.673027	0.16309	N	0.220087	D	0.96065	0.8718	L	0.41710	1.295	0.09310	N	1	B;B;B;B;B;B	0.26672	0.04;0.02;0.156;0.001;0.002;0.02	B;B;B;B;B;B	0.25987	0.045;0.003;0.065;0.0;0.001;0.029	D	0.91613	0.5304	10	0.56958	D	0.05	.	10.1335	0.42693	0.1352:0.0:0.75:0.1148	.	240;238;207;232;238;238	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	L	240;207;232;238;238	ENSP00000395983:S240L;ENSP00000438334:S207L;ENSP00000445962:S232L;ENSP00000343374:S238L;ENSP00000318557:S238L	ENSP00000318557:S238L	S	-	2	0	SLC12A4	66543792	0.000000	0.05858	0.006000	0.13384	0.127000	0.20565	0.070000	0.14573	-0.023000	0.13963	-2.125000	0.00346	TCG	SLC12A4	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	G	NM_005072		67986291	-1	no_errors	ENST00000422611	ensembl	human	known	70_37	missense	SNP	0.000	A	A	67986291	G	A	67986291	3	1	61	1	0	0	0	0	1	0	0	0	14415	1059	37	1	2616	1	SLC12A4	16	67986291	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	297505	67986291	22368462	248	9591										
PDPR	55066	genome.wustl.edu	37	chr16	70190480	70190480	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acgaccatgattcagacctaGacctttggccttggtgggga	12	10	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:70190480G>C	ENST00000288050.4	+	19	3295	c.2338G>C	c.(2338-2340)Gac>Cac	p.D780H	PDPR_ENST00000568530.1_Missense_Mutation_p.D780H|PDPR_ENST00000562100.1_3'UTR|RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.D138H|PDPR_ENST00000398122.3_Missense_Mutation_p.D680H|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Missense_Mutation_p.D125H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	780					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.D780H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTCAGACCTAGACCTTTGGCC	0.547																																																	1	Substitution - Missense(1)	cervix(1)											229	251	244					16																	70190480		2083	4204	6287	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2338G>C	16.37:g.70190480G>C	ENSP00000288050:p.Asp780His		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.D780H	ENST00000288050.4	37	c.2338	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.167367	0.94768	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.78364	-1.17;-1.17;-1.17	6.03	6.03	0.97812	Glycine cleavage T-protein, C-terminal barrel (1);	0.101918	0.64402	D	0.000003	D	0.89726	0.6798	M	0.89904	3.07	0.80722	D	1	D;D	0.63880	0.993;0.985	P;P	0.61940	0.896;0.81	D	0.89304	0.3628	10	0.44086	T	0.13	.	19.5634	0.95382	0.0:0.0:1.0:0.0	.	447;780	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	H	780;680;447;125	ENSP00000288050:D780H;ENSP00000381190:D680H;ENSP00000441690:D125H	ENSP00000205055:D447H	D	+	1	0	PDPR	68747981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.868000	0.98415	0.557000	0.71058	GAC	PDPR	-	pfam_GCV_T_C		0.547	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	G	NM_017990		70190480	1	no_errors	ENST00000288050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70190480	G	C	70190480	3	2	61	1	0	0	0	0	1	0	0	0	11713	942	33	1	2404	1	PDPR	16	70190480	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2204189	70190480	20164273	249	9592										
ZFHX3	463	genome.wustl.edu	37	chr16	72821171	72821171	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggtccgtcggacttttggctGagatccgtgtcagactcctc	12	12	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:72821171G>A	ENST00000268489.5	-	10	11676	c.11004C>T	c.(11002-11004)ctC>ctT	p.L3668L	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.L2754L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3668					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L3668L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTTTTGGCTGAGATCCGTGT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											127	129	128					16																	72821171		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.11004C>T	16.37:g.72821171G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L3668	ENST00000268489.5	37	c.11004	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72821171	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72821171	G	A	72821171	2	1	61	1	0	0	0	0	0	0	0	1	17664	1277	45	1		1	ZFHX3	16	72821171	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2630691	72821171	17533582	250	9593										
DLG4	1742	genome.wustl.edu	37	chr17	7099654	7099654	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggcctcgaatcggctgtactCtgaggaaggacagggaggtt	16	8	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:7099654C>G	ENST00000399506.2	-	11	1378		c.e11-1		DLG4_ENST00000302955.6_Splice_Site|DLG4_ENST00000399510.2_Splice_Site			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)						alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.?(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGGCTGTACTCTGAGGAAGGA	0.582																																																	2	Unknown(2)	cervix(2)											49	53	52					17																	7099654		2052	4198	6250	SO:0001630	splice_region_variant	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1187-1G>C	17.37:g.7099654C>G			B7Z1S1|G5E939|Q92941|Q9UKK8	Splice_Site	SNP	-	e13-1	ENST00000399506.2	37	c.1316-1		17	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521795	0.44866	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0786	0.72096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG4	7040378	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	7.566000	0.82347	2.400000	0.81607	0.591000	0.81541	.	DLG4	-	-		0.582	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	C	NM_001365	Intron	7099654	-1	no_errors	ENST00000293813	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	7099654	C	G	7099654	5	3	61	1	0	0	0	0	0	0	1	0	4567	927	32	1	1028	1	DLG4	17	7099654	Splice_Site	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		7099654	74095556	251	9594										
CHD3	1107	genome.wustl.edu	37	chr17	7804195	7804195	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	actacaaatacatcctgactCgaaattttgaggccttgaat	6	9	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:7804195C>T	ENST00000330494.7	+	19	3154	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1061*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1002*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1002					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1002*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCCTGACTCGAAATTTTGA	0.413																																																	1	Substitution - Nonsense(1)	cervix(1)											94	90	91					17																	7804195		2203	4300	6503	SO:0001587	stop_gained	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3004C>T	17.37:g.7804195C>T	ENSP00000332628:p.Arg1002*		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1002*	ENST00000330494.7	37	c.3004	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	40	7.961639	0.98583	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	4.95	4.95	0.65309	.	0.000000	0.37393	N	0.002109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0231	15.1501	0.72689	0.1414:0.8586:0.0:0.0	.	.	.	.	X	1061;1002;1002	.	ENSP00000332628:R1002X	R	+	1	2	CHD3	7744920	0.526000	0.26298	1.000000	0.80357	0.986000	0.74619	1.227000	0.32576	2.744000	0.94065	0.561000	0.74099	CGA	CHD3	-	pfam_SNF2_N		0.413	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7804195	1	no_errors	ENST00000330494	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7804195	C	T	7804195	4	4	61	1	0	0	0	0	0	1	0	0	3331	876	31	1	3359	1	CHD3	17	7804195	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	704541	7804195	73391015	252	9595										
KIAA0100	9703	genome.wustl.edu	37	chr17	26942204	26942204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gttcaggtccgatttagtttCtagctttccccggacctcag	9	12	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:26942204C>T	ENST00000528896.2	-	39	6660	c.6586G>A	c.(6586-6588)Gaa>Aaa	p.E2196K	KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000301037.5_5'Flank|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E2053K|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E2053K|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2196						extracellular region (GO:0005576)		p.E2196K(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GATTTAGTTTCTAGCTTTCCC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											121	106	111					17																	26942204		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6586G>A	17.37:g.26942204C>T	ENSP00000436773:p.Glu2196Lys		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.E2196K	ENST00000528896.2	37	c.6586	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943486	0.73672	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.29142	1.58;1.59	5.94	5.94	0.96194	.	0.083505	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	P	0.39665	0.682	B	0.31390	0.129	T	0.04053	-1.0981	10	0.15952	T	0.53	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	2196	Q14667	K0100_HUMAN	K	2196;2166;2196;2053	ENSP00000436773:E2196K;ENSP00000446443:E2053K	ENSP00000005905:E2196K	E	-	1	0	KIAA0100	23966331	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.399000	0.79935	2.826000	0.97356	0.561000	0.74099	GAA	KIAA0100	-	NULL		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26942204	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26942204	C	T	26942204	3	4	61	1	0	0	0	0	1	0	0	0	8174	922	32	1	125	1	KIAA0100	17	26942204	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	19138009	26942204	54253006	253	9596										
SUPT6H	6830	genome.wustl.edu	37	chr17	27020847	27020847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggtaaagcggccagaagaacGagtgaaggtagaggactgat	16	5	0	5			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:27020847G>A	ENST00000314616.6	+	28	4050	c.3767G>A	c.(3766-3768)cGa>cAa	p.R1256Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R1256Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1256	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1256Q(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCAGAAGAACGAGTGAAGGTA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											107	97	101					17																	27020847		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3767G>A	17.37:g.27020847G>A	ENSP00000319104:p.Arg1256Gln		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R1256Q	ENST00000314616.6	37	c.3767	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.775904	0.96922	.	.	ENSG00000109111	ENST00000314616	T	0.42131	0.98	5.83	5.83	0.93111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64943	-0.6288	10	0.23302	T	0.38	-6.5144	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1256	Q7KZ85	SPT6H_HUMAN	Q	1256	ENSP00000319104:R1256Q	ENSP00000319104:R1256Q	R	+	2	0	SUPT6H	24044974	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.121000	0.94375	2.769000	0.95229	0.655000	0.94253	CGA	SUPT6H	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	G	NM_003170		27020847	1	no_errors	ENST00000314616	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27020847	G	A	27020847	3	1	61	1	0	0	0	0	1	0	0	0	15430	1058	37	1	3873	1	SUPT6H	17	27020847	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	78643	27020847	54174363	254	9597										
PHF12	57649	genome.wustl.edu	37	chr17	27251153	27251153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctggatgtgggtgtgccaggCctgctggctctcctttccag	14	12	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:27251153C>A	ENST00000332830.4	-	4	1299	c.489G>T	c.(487-489)agG>agT	p.R163S	PHF12_ENST00000577226.1_Missense_Mutation_p.R163S|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.R163S	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.R163S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTGTGCCAGGCCTGCTGGCTC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											90	72	78					17																	27251153		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.489G>T	17.37:g.27251153C>A	ENSP00000329933:p.Arg163Ser			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R163S	ENST00000332830.4	37	c.489	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157531	0.57368	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.95272	-3.56;-3.66;-3.66	5.69	3.72	0.42706	.	0.115428	0.64402	D	0.000017	D	0.94807	0.8323	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.80764	0.987;0.994;0.991;0.987	D	0.91479	0.5203	10	0.21014	T	0.42	-19.6142	6.8321	0.23915	0.0:0.6993:0.1449:0.1559	.	145;163;163;163	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	S	163	ENSP00000329933:R163S;ENSP00000368157:R163S;ENSP00000268756:R163S	ENSP00000268756:R163S	R	-	3	2	PHF12	24275279	0.862000	0.29867	1.000000	0.80357	0.991000	0.79684	-0.067000	0.11579	0.768000	0.33290	0.655000	0.94253	AGG	PHF12	-	NULL		0.562	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27251153	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27251153	C	A	27251153	3	1	61	1	0	0	0	0	1	0	0	0	11847	738	26	4	2599	4	PHF12	17	27251153	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	230306	27251153	53944057	255	9598										
C17orf102	400591	genome.wustl.edu	37	chr17	32904624	32904624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acaatgcctgtgatgttggaGatatgcaccatactactgtg	10	8	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:32904624G>A	ENST00000357754.1	-	2	514	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	142								p.I142I(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGATGTTGGAGATATGCACCA	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											121	115	117					17																	32904624		2021	4195	6216	SO:0001819	synonymous_variant	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.426C>T	17.37:g.32904624G>A			A5PKX0|Q6ZTB3	Silent	SNP	NULL	p.I142	ENST00000357754.1	37	c.426	CCDS42297.1	17																																																																																			C17orf102	-	NULL		0.488	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	G	NM_207454		32904624	-1	no_errors	ENST00000357754	ensembl	human	known	70_37	silent	SNP	0.000	A	A	32904624	G	A	32904624	2	1	61	1	0	0	0	0	0	0	0	1	1853	932	33	1		1	C17orf102	17	32904624	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	5653471	32904624	48290586	256	9599										
MED1	5469	genome.wustl.edu	37	chr17	37571569	37571569	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctctgagagaggacacacttCaaattggagaagcccaggag	12	9	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:37571569C>T	ENST00000394287.3	-	15	1526	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	MED1_ENST00000300651.6_Missense_Mutation_p.E441K			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.E441K(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGACACACTTCAAATTGGAGA	0.483										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												1	Substitution - Missense(1)	cervix(1)											58	48	52					17																	37571569		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1321G>A	17.37:g.37571569C>T	ENSP00000377828:p.Glu441Lys		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.E441K	ENST00000394287.3	37	c.1321		17	.	.	.	.	.	.	.	.	.	.	C	35	5.556661	0.96514	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.55413	0.52	5.7	5.7	0.88788	.	.	.	.	.	T	0.64023	0.2561	M	0.64997	1.995	0.80722	D	1	D;D	0.58268	0.982;0.971	P;P	0.51266	0.664;0.572	T	0.67189	-0.5733	9	0.87932	D	0	-6.162	19.9129	0.97029	0.0:1.0:0.0:0.0	.	441;441	Q15648;Q15648-3	MED1_HUMAN;.	K	441	ENSP00000300651:E441K	ENSP00000300651:E441K	E	-	1	0	MED1	34825095	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.720000	0.84759	2.716000	0.92895	0.644000	0.83932	GAA	MED1	-	NULL		0.483	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37571569	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37571569	C	T	37571569	3	4	61	1	0	0	0	0	1	0	0	0	9448	835	29	1	3436	1	MED1	17	37571569	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4666945	37571569	43623641	257	9600										
COASY	80347	genome.wustl.edu	37	chr17	40714664	40714664	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gccgtattccggtcgggtctCctggtgctgacgacgccgct	14	14	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:40714664C>T	ENST00000393818.2	+	1	480	c.24C>T	c.(22-24)ctC>ctT	p.L8L	RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Silent_p.L8L|COASY_ENST00000421097.2_Silent_p.L8L|COASY_ENST00000590958.1_Silent_p.L37L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	8					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.L8L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGTCGGGTCTCCTGGTGCTGA	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											30	33	32					17																	40714664		2203	4298	6501	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.24C>T	17.37:g.40714664C>T			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.L37	ENST00000393818.2	37	c.111	CCDS11429.1	17																																																																																			COASY	-	NULL		0.677	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40714664	1	no_errors	ENST00000590958	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40714664	C	T	40714664	2	4	61	1	0	0	0	0	0	0	0	1	3657	842	30	1		1	COASY	17	40714664	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3143095	40714664	40480546	258	9601										
CDC27	996	genome.wustl.edu	37	chr17	45247376	45247376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttttctgcttattaaacactCcaccagataagatttgttcc	4	10	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:45247376C>A	ENST00000066544.3	-	4	377	c.284G>T	c.(283-285)gGa>gTa	p.G95V	CDC27_ENST00000527547.1_Missense_Mutation_p.G95V|CDC27_ENST00000531206.1_Missense_Mutation_p.G95V|CDC27_ENST00000446365.2_Missense_Mutation_p.G34V|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.G95V(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATTAAACACTCCACCAGATAA	0.313																																																	2	Substitution - Missense(2)	cervix(2)											100	109	106					17																	45247376		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.284G>T	17.37:g.45247376C>A	ENSP00000066544:p.Gly95Val		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	NULL	p.E46*	ENST00000066544.3	37	c.136	CCDS11509.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.558500|6.558500	0.97663|0.97663	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000533415|ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.|T;T;T;T;T	.|0.69926	.|-0.43;-0.44;-0.19;-0.43;0.75	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.69566	.|0.3125	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47762	.|0.875;0.673;0.818;0.9	.|B;B;B;P	.|0.50352	.|0.307;0.308;0.311;0.638	.|T	.|0.68292	.|-0.5447	.|10	0.59425|0.39692	D|T	0.04|0.17	-10.6938|-10.6938	16.9253|16.9253	0.86174|0.86174	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|34;95;95;95	.|B4DL80;G5EA36;G3V1C4;P30260	.|.;.;.;CDC27_HUMAN	X|V	46|95;95;34;95;95	.|ENSP00000066544:G95V;ENSP00000434614:G95V;ENSP00000392802:G34V;ENSP00000437339:G95V;ENSP00000432105:G95V	ENSP00000432211:E46X|ENSP00000066544:G95V	E|G	-|-	1|2	0|0	CDC27|CDC27	42602375|42602375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.687000|7.687000	0.84139|0.84139	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CDC27	-	NULL		0.313	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	C			45247376	-1	no_errors	ENST00000533415	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	45247376	C	A	45247376	3	1	61	1	0	0	0	0	1	0	0	0	3071	855	30	3	2272	3	CDC27	17	45247376	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4532712	45247376	35947834	259	9602										
BZRAP1	9256	genome.wustl.edu	37	chr17	56399716	56399716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cttctcccgtaggctgagccGagcctgttcatgctccacct	9	16	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:56399716G>A	ENST00000343736.4	-	10	1538	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R399W|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R459W			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	459						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.R459W(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCTGAGCCGAGCCTGTTCA	0.642																																																	2	Substitution - Missense(2)	cervix(2)											56	58	57					17																	56399716		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1375C>T	17.37:g.56399716G>A	ENSP00000345824:p.Arg459Trp		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.R459W	ENST00000343736.4	37	c.1375	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332815	0.81801	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04275	3.66;3.66;3.66	4.8	3.8	0.43715	.	0.189560	0.35555	N	0.003128	T	0.07007	0.0178	N	0.22421	0.69	0.25974	N	0.98247	D;D;D	0.76494	0.994;0.999;0.997	P;P;P	0.56278	0.556;0.795;0.696	T	0.15378	-1.0439	10	0.62326	D	0.03	.	6.647	0.22941	0.0922:0.0:0.7214:0.1863	.	459;399;459	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	W	459;459;399	ENSP00000347929:R459W;ENSP00000345824:R459W;ENSP00000268893:R399W	ENSP00000268893:R399W	R	-	1	2	BZRAP1	53754715	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.558000	0.53749	0.951000	0.37770	0.563000	0.77884	CGG	BZRAP1	-	NULL		0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	G	NM_004758		56399716	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	0.980	A	A	56399716	G	A	56399716	3	1	61	1	0	0	0	0	1	0	0	0	1580	1057	37	1	4286	1	BZRAP1	17	56399716	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	11152340	56399716	24795494	260	9603										
CACNG5	27091	genome.wustl.edu	37	chr17	64880840	64880840	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cactgccccactgagccgggGagagtggggatgggggagaa	19	9	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:64880840G>A	ENST00000533854.1	+	5	807				CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000169565.3_Missense_Mutation_p.G211E			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.G211E(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGAGCCGGGGAGAGTGGGGA	0.572																																																	1	Substitution - Missense(1)	cervix(1)											88	85	86					17																	64880840		2203	4300	6503	SO:0001627	intron_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+62G>A	17.37:g.64880840G>A			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.G211E	ENST00000533854.1	37	c.632	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903529	0.17760	.	.	ENSG00000075429	ENST00000169565	T	0.57436	0.4	2.57	-1.45	0.08828	.	1.247360	0.05459	N	0.550863	T	0.35248	0.0925	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20806	-1.0264	6	.	.	.	0.0012	4.2983	0.10913	0.3362:0.0:0.1276:0.5362	.	.	.	.	E	211	ENSP00000169565:G211E	.	G	+	2	0	CACNG5	62311302	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.840000	0.04363	-0.323000	0.08602	-0.508000	0.04489	GGA	CACNG5	-	NULL		0.572	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	G	NM_014404, NM_145811		64880840	1	no_errors	ENST00000169565	ensembl	human	known	70_37	missense	SNP	0.001	A	A	64880840	G	A	64880840	1	1	61	0	1	0	0	0	0	0	0	0	2565	1174	41	1		1	CACNG5	17	64880840	Intron	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8481124	64880840	16314370	261	9604										
TMEM104	54868	genome.wustl.edu	37	chr17	72832424	72832424	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgggcctcttccccgtcttCaccatcagcaccaacttccc	5	20	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:72832424C>T	ENST00000335464.5	+	10	1251	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	TMEM104_ENST00000582330.1_Silent_p.F363F|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	363						integral component of membrane (GO:0016021)		p.F363F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCCCCGTCTTCACCATCAGCA	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											245	204	218					17																	72832424		2203	4300	6503	SO:0001819	synonymous_variant	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1089C>T	17.37:g.72832424C>T			Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.F363	ENST00000335464.5	37	c.1089	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM		0.632	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	C	NM_017728		72832424	1	no_errors	ENST00000335464	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72832424	C	T	72832424	2	4	61	1	0	0	0	0	0	0	0	1	16048	825	29	1		1	TMEM104	17	72832424	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	7951584	72832424	8362786	262	9605										
FDXR	2232	genome.wustl.edu	37	chr17	72862305	72862305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccacgaaggcccgggcggagCacacacctggcagctcctca	12	17	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:72862305C>T	ENST00000293195.5	-	5	533	c.455G>A	c.(454-456)tGc>tAc	p.C152Y	FDXR_ENST00000544854.1_Missense_Mutation_p.C100Y|FDXR_ENST00000583917.1_Missense_Mutation_p.C153Y|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.C183Y|FDXR_ENST00000581530.1_Missense_Mutation_p.C152Y|FDXR_ENST00000582944.1_Missense_Mutation_p.C144Y|FDXR_ENST00000420580.2_Missense_Mutation_p.C112Y|FDXR_ENST00000442102.2_Missense_Mutation_p.C195Y|FDXR_ENST00000455107.2_Missense_Mutation_p.C108Y	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	152					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.C152Y(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCGGGCGGAGCACACACCTGG	0.652																																																	2	Substitution - Missense(2)	cervix(2)											56	64	61					17																	72862305		2203	4300	6503	SO:0001583	missense	2232			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.455G>A	17.37:g.72862305C>T	ENSP00000293195:p.Cys152Tyr		B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.C152Y	ENST00000293195.5	37	c.455	CCDS58593.1	17	.	.	.	.	.	.	.	.	.	.	C	1.463	-0.561896	0.03939	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;D;T	0.82893	2.45;2.45;2.45;2.45;-1.66;2.45	4.96	1.41	0.22369	.	0.941057	0.09057	N	0.854904	T	0.38639	0.1048	N	0.00031	-2.6	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.49011	-0.8983	10	0.02654	T	1	-19.6808	6.1853	0.20493	0.549:0.2261:0.0:0.225	.	112;195;183;150;100;183;152;144;152;152	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	Y	112;100;152;108;195;183	ENSP00000414172:C112Y;ENSP00000445432:C100Y;ENSP00000293195:C152Y;ENSP00000390875:C108Y;ENSP00000416515:C195Y;ENSP00000408595:C183Y	ENSP00000293195:C152Y	C	-	2	0	FDXR	70373900	0.626000	0.27120	0.000000	0.03702	0.028000	0.11728	2.317000	0.43770	-0.039000	0.13602	-1.388000	0.01159	TGC	FDXR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.652	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	HGNC	protein_coding	OTTHUMT00000444449.1	C	NM_004110		72862305	-1	no_errors	ENST00000581530	ensembl	human	known	70_37	missense	SNP	0.080	T	T	72862305	C	T	72862305	3	4	61	1	0	0	0	0	1	0	0	0	5825	710	25	4	1070	4	FDXR	17	72862305	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	29881	72862305	8332905	263	9606										
LLGL2	3993	genome.wustl.edu	37	chr17	73559178	73559178	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cctcgagaccccaaccagatCctgatcggctacagccgagg	10	16	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:73559178C>T	ENST00000392550.3	+	7	729	c.612C>T	c.(610-612)atC>atT	p.I204I	LLGL2_ENST00000375227.4_Silent_p.I204I|LLGL2_ENST00000578363.1_Silent_p.I204I|LLGL2_ENST00000577200.1_Silent_p.I204I|LLGL2_ENST00000167462.5_Silent_p.I204I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	204					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.I204I(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCAGATCCTGATCGGCT	0.657																																																	2	Substitution - coding silent(2)	cervix(2)											48	49	49					17																	73559178		2203	4300	6503	SO:0001819	synonymous_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.612C>T	17.37:g.73559178C>T			Q14521|Q9BR62	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.I204	ENST00000392550.3	37	c.612	CCDS32733.1	17																																																																																			LLGL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	C	NM_004524		73559178	1	no_errors	ENST00000392550	ensembl	human	known	70_37	silent	SNP	1.000	T	T	73559178	C	T	73559178	2	4	61	1	0	0	0	0	0	0	0	1	8855	845	30	1		1	LLGL2	17	73559178	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	696873	73559178	7636032	264	9607										
UNC13D	201294	genome.wustl.edu	37	chr17	73838975	73838975	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	agaatgcccttggcctgtttCactgttgccttcagacaaaa	8	11	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:73838975C>T	ENST00000207549.4	-	5	730	c.351G>A	c.(349-351)gtG>gtA	p.V117V	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.V117V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	117	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.V117V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCTGTTTCACTGTTGCCT	0.607									Familial Hemophagocytic Lymphohistiocytosis																																								1	Substitution - coding silent(1)	cervix(1)											141	146	145					17																	73838975		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.351G>A	17.37:g.73838975C>T			B4DWG9|Q9H7K5	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V117	ENST00000207549.4	37	c.351	CCDS11730.1	17																																																																																			UNC13D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.607	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	C	XM_113950		73838975	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	silent	SNP	0.994	T	T	73838975	C	T	73838975	2	4	61	1	0	0	0	0	0	0	0	1	17018	813	29	1		1	UNC13D	17	73838975	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	279797	73838975	7356235	265	9608										
RNF213	57674	genome.wustl.edu	37	chr17	78332128	78332128	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tccaaggtgctgtcacccctCtgctggcgagcatgatatca	10	13	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:78332128C>T	ENST00000582970.1	+	37	11046	c.10903C>T	c.(10903-10905)Ctg>Ttg	p.L3635L	RNF213_ENST00000336301.6_Silent_p.L1708L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3684L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3635					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1708L(1)|p.L3684L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTCACCCCTCTGCTGGCGAG	0.572																																																	2	Substitution - coding silent(2)	cervix(2)											82	71	75					17																	78332128		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10903C>T	17.37:g.78332128C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L3635	ENST00000582970.1	37	c.10903	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78332128	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.940	T	T	78332128	C	T	78332128	2	4	61	1	0	0	0	0	0	0	0	1	13507	912	32	1		1	RNF213	17	78332128	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4493153	78332128	2863082	266	9609										
RNF213	57674	genome.wustl.edu	37	chr17	78355466	78355466	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cacagtgccgacgagaccatCggcgtggtccacctcgtcct	11	16	0	1	rs147013725		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:78355466C>T	ENST00000582970.1	+	57	14060	c.13917C>T	c.(13915-13917)atC>atT	p.I4639I	RNF213_ENST00000336301.6_Silent_p.I2712I|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4688I|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4639					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I2712I(1)|p.I4688I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGAGACCATCGGCGTGGTCC	0.607																																																	2	Substitution - coding silent(2)	cervix(2)						C		0,4406		0,0,2203	86	68	74		14064	3	0	17	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RNF213	NM_020914.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		4688/5257	78355466	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13917C>T	17.37:g.78355466C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I4639	ENST00000582970.1	37	c.13917	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78355466	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.002	T	T	78355466	C	T	78355466	2	4	61	1	0	0	0	0	0	0	0	1	13507	874	31	1		1	RNF213	17	78355466	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	23338	78355466	2839744	267	9610										
FASN	2194	genome.wustl.edu	37	chr17	80038078	80038078	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tatggcctccgtctcagcctCagcctcacagcctggggtca	10	16	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:80038078C>T	ENST00000306749.2	-	41	7302	c.7084G>A	c.(7084-7086)Gag>Aag	p.E2362K	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2362	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E2362K(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTCTCAGCCTCAGCCTCACAG	0.642																																					Colon(59;314 1043 11189 28578 32273)												1	Substitution - Missense(1)	cervix(1)											118	101	107					17																	80038078		2202	4300	6502	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7084G>A	17.37:g.80038078C>T	ENSP00000304592:p.Glu2362Lys		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E2362K	ENST00000306749.2	37	c.7084	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989131	0.74589	.	.	ENSG00000169710	ENST00000306749	T	0.26810	1.71	4.68	4.68	0.58851	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.062510	0.64402	D	0.000008	T	0.46464	0.1394	M	0.80746	2.51	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.47736	-0.9094	10	0.35671	T	0.21	-34.5479	17.7539	0.88444	0.0:1.0:0.0:0.0	.	2362	P49327	FAS_HUMAN	K	2362	ENSP00000304592:E2362K	ENSP00000304592:E2362K	E	-	1	0	FASN	77631367	1.000000	0.71417	0.664000	0.29753	0.098000	0.18820	4.587000	0.60991	2.430000	0.82344	0.591000	0.81541	GAG	FASN	-	pfam_Thioesterase		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80038078	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80038078	C	T	80038078	3	4	61	1	0	0	0	0	1	0	0	0	5701	835	29	1	463	1	FASN	17	80038078	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	1682612	80038078	1157132	268	9611										
SMCHD1	23347	genome.wustl.edu	37	chr18	2740770	2740770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aagttctttatcttctttgtCaattgctggggttggacttg	10	6	4	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:2740770C>T	ENST00000320876.6	+	28	3922	c.3584C>T	c.(3583-3585)tCa>tTa	p.S1195L	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1195L|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1195					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S1195L(2)|p.S643L(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTTCTTTGTCAATTGCTGGG	0.308																																																	3	Substitution - Missense(3)	cervix(3)											115	116	116					18																	2740770		1808	4055	5863	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3584C>T	18.37:g.2740770C>T	ENSP00000326603:p.Ser1195Leu		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.S1195L	ENST00000320876.6	37	c.3584	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588188	0.46110	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23147	1.92;1.92	5.33	2.47	0.30058	.	0.400420	0.27715	N	0.018156	T	0.20577	0.0495	L	0.27053	0.805	0.31414	N	0.675082	B	0.14438	0.01	B	0.12156	0.007	T	0.11036	-1.0604	10	0.66056	D	0.02	-0.9632	16.2196	0.82251	0.0:0.5603:0.4397:0.0	.	1195	A6NHR9	SMHD1_HUMAN	L	1195	ENSP00000326603:S1195L;ENSP00000261598:S1195L	ENSP00000261598:S1195L	S	+	2	0	SMCHD1	2730770	0.998000	0.40836	0.982000	0.44146	0.972000	0.66771	2.173000	0.42472	0.284000	0.22305	0.650000	0.86243	TCA	SMCHD1	-	NULL		0.308	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2740770	1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	0.999	T	T	2740770	C	T	2740770	3	4	61	1	0	0	0	0	1	0	0	0	14818	838	29	1	3694	1	SMCHD1	18	2740770	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		2740770	75336478	269	9612										
LAMA1	284217	genome.wustl.edu	37	chr18	7049150	7049150	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgagatctgcattgagcgttCtaatgcgttgcaagcgaagg	13	7	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:7049150C>G	ENST00000389658.3	-	5	788	c.695G>C	c.(694-696)aGa>aCa	p.R232T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	232	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R232T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATTGAGCGTTCTAATGCGTTG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											147	122	131					18																	7049150		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.695G>C	18.37:g.7049150C>G	ENSP00000374309:p.Arg232Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R232T	ENST00000389658.3	37	c.695	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455796	0.84209	.	.	ENSG00000101680	ENST00000389658	T	0.76316	-1.01	5.85	5.85	0.93711	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.80422	2.495	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.88270	0.2929	10	0.48119	T	0.1	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	232	P25391	LAMA1_HUMAN	T	232	ENSP00000374309:R232T	ENSP00000374309:R232T	R	-	2	0	LAMA1	7039150	0.980000	0.34600	0.269000	0.24586	0.478000	0.33099	7.818000	0.86416	2.767000	0.95098	0.557000	0.71058	AGA	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7049150	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.941	G	G	7049150	C	G	7049150	3	3	61	1	0	0	0	0	1	0	0	0	8625	913	32	1	8768	1	LAMA1	18	7049150	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4308380	7049150	71028098	270	9613										
RBBP8	5932	genome.wustl.edu	37	chr18	20573283	20573283	+	Nonsense_Mutation	SNP	C	C	A													0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggatctgtctgatcgattttCagctattcagcgtcaagaga							TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:20573283C>A	ENST00000399722.2	+	11	1844	c.1493C>A	c.(1492-1494)tCa>tAa	p.S498*	RBBP8_ENST00000360790.5_Nonsense_Mutation_p.S498*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.S498*|RBBP8_ENST00000327155.5_Nonsense_Mutation_p.S498*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	498					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S498*(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GATCGATTTTCAGCTATTCAG	0.388								Homologous recombination																																									2	Substitution - Nonsense(2)	cervix(2)											59	60	59					18																	20573283		2193	4278	6471	SO:0001587	stop_gained	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1493C>A	18.37:g.20573283C>A	ENSP00000382628:p.Ser498*		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.S498*	ENST00000399722.2	37	c.1493	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	C	41	8.851186	0.98978	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	.	.	.	6.17	6.17	0.99709	.	0.368409	0.23502	N	0.047494	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6348	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	.	.	.	X	498	.	ENSP00000323050:S498X	S	+	2	0	RBBP8	18827281	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.787000	0.55439	2.941000	0.99782	0.655000	0.94253	TCA	RBBP8	-	NULL		0.388	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	C	NM_203291		20573283	1	no_errors	ENST00000327155	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	20573283	C	A	20573283	4	1	61	1	0	0	0	0	0	1	0	0	13135	838	29	3	1531	3	RBBP8	18	20573283	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	13524133	20573283	57503965	271	9614	48	2								
RBBP8	5932	genome.wustl.edu	37	chr18	20573291	20573291	+	Nonsense_Mutation	SNP	C	C	T													0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgatcgattttcagctattCagcgtcaagagaaaagccaa							TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:20573291C>T	ENST00000399722.2	+	11	1852	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	RBBP8_ENST00000360790.5_Nonsense_Mutation_p.Q501*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.Q501*|RBBP8_ENST00000327155.5_Nonsense_Mutation_p.Q501*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	501					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.Q501*(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCAGCTATTCAGCGTCAAGA	0.398								Homologous recombination																																									2	Substitution - Nonsense(2)	cervix(2)											57	58	58					18																	20573291		2193	4278	6471	SO:0001587	stop_gained	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1501C>T	18.37:g.20573291C>T	ENSP00000382628:p.Gln501*		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.Q501*	ENST00000399722.2	37	c.1501	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	C	40	8.077659	0.98643	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	.	.	.	6.17	5.3	0.74995	.	0.287715	0.30620	N	0.009240	.	.	.	.	.	.	0.48236	D	0.999611	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.4061	9.8665	0.41148	0.1397:0.7915:0.0:0.0688	.	.	.	.	X	501	.	ENSP00000323050:Q501X	Q	+	1	0	RBBP8	18827289	0.157000	0.22836	0.346000	0.25655	0.969000	0.65631	2.007000	0.40883	2.941000	0.99782	0.655000	0.94253	CAG	RBBP8	-	NULL		0.398	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	C	NM_203291		20573291	1	no_errors	ENST00000327155	ensembl	human	known	70_37	nonsense	SNP	0.253	T	T	20573291	C	T	20573291	4	4	61	1	0	0	0	0	0	1	0	0	13135	827	29	1	1539	1	RBBP8	18	20573291	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	8	20573291	57503957	272	9615	48	2								
ZNF521	25925	genome.wustl.edu	37	chr18	22805425	22805425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttttctaacaaaatgatcgcAtggaaggctttgctacagaa	8	7	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:22805425A>C	ENST00000361524.3	-	4	2605	c.2457T>G	c.(2455-2457)caT>caG	p.H819Q	ZNF521_ENST00000584787.1_Missense_Mutation_p.H599Q|ZNF521_ENST00000538137.2_Missense_Mutation_p.H819Q|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	819					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.H819Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAATGATCGCATGGAAGGCTT	0.463			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	cervix(1)											167	158	161					18																	22805425		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2457T>G	18.37:g.22805425A>C	ENSP00000354794:p.His819Gln		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H819Q	ENST00000361524.3	37	c.2457	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	A	1.345	-0.593043	0.03771	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.41400	1.0;1.0	5.93	-11.9	0.00025	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.049809	0.85682	D	0.000000	T	0.28200	0.0696	N	0.19112	0.55	0.21290	N	0.99973	P	0.42123	0.771	P	0.46885	0.53	T	0.55231	-0.8173	10	0.11794	T	0.64	-25.5375	22.477	0.99972	0.7946:0.0:0.2054:0.0	.	819	Q96K83	ZN521_HUMAN	Q	819;853;819	ENSP00000354794:H819Q;ENSP00000382352:H819Q	ENSP00000354794:H819Q	H	-	3	2	ZNF521	21059423	0.058000	0.20735	0.058000	0.19502	0.363000	0.29612	-0.450000	0.06803	-3.013000	0.00272	-1.127000	0.01993	CAT	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	A	NM_015461		22805425	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	0.020	C	C	22805425	A	C	22805425	3	2	61	1	0	0	0	0	1	0	0	0	17995	214	8	5	1498	5	ZNF521	18	22805425	Missense_Mutation	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08	2232134	22805425	55271823	273	9616										
MEP1B	4225	genome.wustl.edu	37	chr18	29784241	29784241	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acagttcaacacgagttcctCcacgctctgggattctggca	9	13	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:29784241C>G	ENST00000269202.6	+	7	512	c.465C>G	c.(463-465)ctC>ctG	p.L155L	MEP1B_ENST00000581447.1_Silent_p.L155L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	155	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L155L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGAGTTCCTCCACGCTCTGG	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											123	127	126					18																	29784241		2014	4189	6203	SO:0001819	synonymous_variant	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.465C>G	18.37:g.29784241C>G			B7ZM35|B9EGL6|Q670J1	Silent	SNP	pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom	p.L155	ENST00000269202.6	37	c.465	CCDS45846.1	18																																																																																			MEP1B	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A		0.483	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	C	NM_005925		29784241	1	no_errors	ENST00000269202	ensembl	human	known	70_37	silent	SNP	0.951	G	G	29784241	C	G	29784241	2	3	61	1	0	0	0	0	0	0	0	1	9499	842	30	1		1	MEP1B	18	29784241	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	6978816	29784241	48293007	274	9617										
DCC	1630	genome.wustl.edu	37	chr18	50936959	50936959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	attactttcgaattcaagcaCgaaattcaaaaggagtgggg	10	6	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:50936959C>G	ENST00000442544.2	+	20	3689	c.3073C>G	c.(3073-3075)Cga>Gga	p.R1025G	DCC_ENST00000412726.1_Missense_Mutation_p.R853G|DCC_ENST00000581580.1_Missense_Mutation_p.R660G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1025	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R1025G(1)|p.R1025*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTCAAGCACGAAATTCAAA	0.378																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)											120	116	117					18																	50936959		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3073C>G	18.37:g.50936959C>G	ENSP00000389140:p.Arg1025Gly			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1025G	ENST00000442544.2	37	c.3073	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	6.712	0.500113	0.12762	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.58652	0.32;0.32	5.87	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.080048	0.50627	D	0.000118	T	0.73721	0.3623	M	0.77313	2.365	0.53005	D	0.999966	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.72982	0.972;0.972;0.979	T	0.73069	-0.4099	10	0.28530	T	0.3	-8.005	13.2613	0.60106	0.2888:0.7112:0.0:0.0	.	853;853;1025	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	G	1025;853	ENSP00000389140:R1025G;ENSP00000397322:R853G	ENSP00000397322:R853G	R	+	1	2	DCC	49190957	0.965000	0.33210	0.987000	0.45799	0.218000	0.24690	2.309000	0.43699	1.590000	0.49995	0.655000	0.94253	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		50936959	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	0.998	G	G	50936959	C	G	50936959	3	3	61	1	0	0	0	0	1	0	0	0	4287	528	19	2	3151	2	DCC	18	50936959	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	21152718	50936959	27140289	275	9618										
ALPK2	115701	genome.wustl.edu	37	chr18	56203851	56203851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caccacggagaccctcgtccCccaacctgagcgctgccctg	9	20	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:56203851C>T	ENST00000361673.3	-	5	3781	c.3568G>A	c.(3568-3570)Ggg>Agg	p.G1190R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1190						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1190R(1)|p.G551R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACCCTCGTCCCCCAACCTGAG	0.557																																																	2	Substitution - Missense(2)	cervix(2)											92	85	87					18																	56203851		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3568G>A	18.37:g.56203851C>T	ENSP00000354991:p.Gly1190Arg		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G1190R	ENST00000361673.3	37	c.3568	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262811	0.39995	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.39	3.59	0.41128	.	0.845194	0.10584	N	0.657521	T	0.31451	0.0797	N	0.22421	0.69	0.09310	N	1	P;B	0.44816	0.844;0.266	P;B	0.44772	0.46;0.077	T	0.07578	-1.0765	10	0.23891	T	0.37	-6.6849	7.4423	0.27190	0.0:0.7993:0.0:0.2007	.	1185;1190	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1190	ENSP00000354991:G1190R	ENSP00000354991:G1190R	G	-	1	0	ALPK2	54354831	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	0.278000	0.18753	0.640000	0.30582	0.609000	0.83330	GGG	ALPK2	-	NULL		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	C	NM_052947		56203851	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.002	T	T	56203851	C	T	56203851	3	4	61	1	0	0	0	0	1	0	0	0	545	623	22	4	2980	4	ALPK2	18	56203851	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5266892	56203851	21873397	276	9619										
ADAMTSL5	339366	genome.wustl.edu	37	chr19	1510233	1510233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggcacactgtaggtctcggaAgggcacagcccctggggggc	17	12	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:1510233A>G	ENST00000413997.2	-	5	306	c.307T>C	c.(307-309)Ttc>Ctc	p.F103L	ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.F93L			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	103						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F93L(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCTCGGAAGGGCACAGCC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											39	39	39					19																	1510233		2202	4300	6502	SO:0001583	missense	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.307T>C	19.37:g.1510233A>G	ENSP00000399364:p.Phe103Leu		B4DXK7|Q8IW95	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.F103L	ENST00000413997.2	37	c.307		19	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909791	0.92107	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.05447	3.44;3.44	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	M	0.91663	3.23	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.957	T	0.17107	-1.0380	10	0.87932	D	0	.	11.3547	0.49609	1.0:0.0:0.0:0.0	.	103;93	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	L	103;93	ENSP00000399364:F103L;ENSP00000327608:F93L	ENSP00000327608:F93L	F	-	1	0	ADAMTSL5	1461233	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.984000	0.63838	1.691000	0.51100	0.374000	0.22700	TTC	ADAMTSL5	-	NULL		0.637	ADAMTSL5-202	KNOWN	basic	protein_coding	ADAMTSL5	HGNC	protein_coding		A	XM_294919		1510233	-1	no_errors	ENST00000413997	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1510233	A	G	1510233	3	3	61	1	0	0	0	0	1	0	0	0	278	72	3	5	1170	5	ADAMTSL5	19	1510233	Missense_Mutation	SNP	A	TCGA-DS-A0VM-01A-11D-A10S-08		1510233	57618750	277	9620										
ARHGEF18	23370	genome.wustl.edu	37	chr19	7527213	7527213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctaattctcaagtcggccatGagcgagagtaagttggctgc	12	9	1	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:7527213G>C	ENST00000359920.6	+	11	2317	c.2064G>C	c.(2062-2064)atG>atC	p.M688I	CTD-2207O23.3_ENST00000593531.1_Nonstop_Mutation_p.*646S|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.M530I	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	688					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M530I(1)|p.M688I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTCGGCCATGAGCGAGAGTA	0.652																																																	2	Substitution - Missense(2)	cervix(2)											26	28	27					19																	7527213		2203	4300	6503	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2064G>C	19.37:g.7527213G>C	ENSP00000352995:p.Met688Ile		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M688I	ENST00000359920.6	37	c.2064	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973226	0.34848	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.24723	1.87;1.84	5.26	4.01	0.46588	.	0.333488	0.25296	N	0.031684	T	0.13586	0.0329	N	0.20685	0.6	0.39040	D	0.960103	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.002	T	0.12426	-1.0548	10	0.17832	T	0.49	-27.0535	7.4557	0.27266	0.1026:0.1744:0.723:0.0	.	530;688	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	I	530;688	ENSP00000319200:M530I;ENSP00000352995:M688I	ENSP00000319200:M530I	M	+	3	0	ARHGEF18	7433213	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	2.903000	0.48711	2.459000	0.83118	0.313000	0.20887	ATG	ARHGEF18	-	NULL		0.652	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	G	NM_015318		7527213	1	no_errors	ENST00000359920	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7527213	G	C	7527213	3	2	61	1	0	0	0	0	1	0	0	0	901	1290	45	1	2106	1	ARHGEF18	19	7527213	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6016980	7527213	51601770	278	9621										
ZNF846	162993	genome.wustl.edu	37	chr19	9868423	9868423	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acaggccttttctccagtgtGagttcttaaatgggtactaa	9	8	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:9868423G>C	ENST00000397902.2	-	6	1743	c.1330C>G	c.(1330-1332)Cac>Gac	p.H444D	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	444					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.H444D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCCAGTGTGAGTTCTTAAA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											81	92	88					19																	9868423		2143	4282	6425	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1330C>G	19.37:g.9868423G>C	ENSP00000380999:p.His444Asp		A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H444D	ENST00000397902.2	37	c.1330	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	18.31	3.595741	0.66219	.	.	ENSG00000196605	ENST00000397902	T	0.67698	-0.28	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83663	0.5303	M	0.92784	3.345	0.31226	N	0.696895	D	0.89917	1.0	D	0.91635	0.999	T	0.82026	-0.0661	8	.	.	.	.	10.1856	0.42995	0.0:0.0:1.0:0.0	.	444	Q147U1	ZN846_HUMAN	D	444	ENSP00000380999:H444D	.	H	-	1	0	ZNF846	9729423	1.000000	0.71417	0.514000	0.27761	0.296000	0.27459	6.106000	0.71511	1.468000	0.48064	0.555000	0.69702	CAC	ZNF846	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	G	NM_001077624		9868423	-1	no_errors	ENST00000397902	ensembl	human	known	70_37	missense	SNP	0.995	C	C	9868423	G	C	9868423	3	2	61	1	0	0	0	0	1	0	0	0	18222	1290	45	1	275	1	ZNF846	19	9868423	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2341210	9868423	49260560	279	9622										
ZNF700	90592	genome.wustl.edu	37	chr19	12059989	12059989	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ttcaaacacatgaaaaaactCacactggagagaaacgctat	6	9	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:12059989C>T	ENST00000254321.5	+	4	1293	c.1150C>T	c.(1150-1152)Cac>Tac	p.H384Y	ZNF700_ENST00000482090.1_Missense_Mutation_p.H366Y|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	384					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.H384Y(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGAAAAAACTCACACTGGAGA	0.373																																																	1	Substitution - Missense(1)	cervix(1)											51	55	53					19																	12059989		2203	4300	6503	SO:0001583	missense	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1150C>T	19.37:g.12059989C>T	ENSP00000254321:p.His384Tyr		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H384Y	ENST00000254321.5	37	c.1150	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550004	0.45383	.	.	ENSG00000196757	ENST00000254321	T	0.67523	-0.27	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83046	0.5169	M	0.92649	3.33	0.29602	N	0.84763	D	0.76494	0.999	D	0.87578	0.998	T	0.75210	-0.3398	9	0.72032	D	0.01	.	8.8188	0.35011	0.0:1.0:0.0:0.0	.	384	Q9H0M5	ZN700_HUMAN	Y	384	ENSP00000254321:H384Y	ENSP00000254321:H384Y	H	+	1	0	ZNF700	11920989	0.977000	0.34250	0.353000	0.25747	0.254000	0.26022	4.141000	0.58038	0.623000	0.30267	0.305000	0.20034	CAC	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	C	NM_144566		12059989	1	no_errors	ENST00000254321	ensembl	human	known	70_37	missense	SNP	0.997	T	T	12059989	C	T	12059989	3	4	61	1	0	0	0	0	1	0	0	0	18134	826	29	1	1164	1	ZNF700	19	12059989	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2191566	12059989	47068994	280	9623										
ZNF442	79973	genome.wustl.edu	37	chr19	12461533	12461533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tacatttatagggtttttctCcagtgtgagttctttcatgt	8	6	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:12461533C>T	ENST00000242804.4	-	6	1448	c.866G>A	c.(865-867)gGa>gAa	p.G289E	ZNF442_ENST00000438182.1_Missense_Mutation_p.G220E|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	289					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.G289E(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GGGTTTTTCTCCAGTGTGAGT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											137	135	135					19																	12461533		2203	4300	6503	SO:0001583	missense	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.866G>A	19.37:g.12461533C>T	ENSP00000242804:p.Gly289Glu		B4DJ48	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G289E	ENST00000242804.4	37	c.866	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801894	0.50315	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.31769	1.48;1.48	0.832	0.832	0.18867	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42562	0.1208	L	0.46670	1.46	0.38963	D	0.958585	D	0.89917	1.0	D	0.97110	1.0	T	0.42189	-0.9466	9	0.72032	D	0.01	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	289	Q9H7R0	ZN442_HUMAN	E	289;220	ENSP00000242804:G289E;ENSP00000388634:G220E	ENSP00000242804:G289E	G	-	2	0	ZNF442	12322533	0.000000	0.05858	0.274000	0.24659	0.281000	0.26958	0.383000	0.20651	0.737000	0.32582	0.313000	0.20887	GGA	ZNF442	-	pfscan_Znf_C2H2		0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	C	NM_030824		12461533	-1	no_errors	ENST00000242804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12461533	C	T	12461533	3	4	61	1	0	0	0	0	1	0	0	0	17945	855	30	1	1021	1	ZNF442	19	12461533	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	401544	12461533	46667450	281	9624										
BRD4	23476	genome.wustl.edu	37	chr19	15379752	15379752	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caatttgtaaacatagtgttGaagtcctggatacattcctg	8	7	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:15379752G>T	ENST00000263377.2	-	3	608	c.387C>A	c.(385-387)ttC>ttA	p.F129L	BRD4_ENST00000371835.4_Missense_Mutation_p.F129L|BRD4_ENST00000360016.5_Missense_Mutation_p.F129L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	129	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.F129L(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACATAGTGTTGAAGTCCTGGA	0.453			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	2	Substitution - Missense(2)	cervix(2)											160	143	149					19																	15379752		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.387C>A	19.37:g.15379752G>T	ENSP00000263377:p.Phe129Leu		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.F129L	ENST00000263377.2	37	c.387	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105925	0.77096	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.16897	2.31;2.31;2.31	5.25	4.0	0.46444	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000006	T	0.28400	0.0702	L	0.28504	0.86	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.972;0.989	T	0.01899	-1.1251	10	0.52906	T	0.07	-19.0381	13.6699	0.62418	0.0915:0.0:0.9085:0.0	.	129;129;129	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	129	ENSP00000263377:F129L;ENSP00000360901:F129L;ENSP00000353112:F129L	ENSP00000263377:F129L	F	-	3	2	BRD4	15240752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.341000	0.43983	2.455000	0.83008	0.655000	0.94253	TTC	BRD4	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.453	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	G	NM_058243		15379752	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15379752	G	T	15379752	3	4	61	1	0	0	0	0	1	0	0	0	1507	1281	45	3	3788	3	BRD4	19	15379752	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2918219	15379752	43749231	282	9625										
ZNF91	7644	genome.wustl.edu	37	chr19	23544483	23544483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cacattcttcacacttgtaaGgtttctctccagtatgaata	5	10	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:23544483G>C	ENST00000300619.7	-	4	1503	c.1298C>G	c.(1297-1299)cCt>cGt	p.P433R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P401R|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	433					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P433R(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTTGTAAGGTTTCTCTCC	0.343																																																	1	Substitution - Missense(1)	cervix(1)											18	18	18					19																	23544483		1958	4168	6126	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1298C>G	19.37:g.23544483G>C	ENSP00000300619:p.Pro433Arg		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P433R	ENST00000300619.7	37	c.1298	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	5.691	0.312029	0.10789	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17213	2.29;2.29	1.47	-1.73	0.08081	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20861	0.0502	L	0.47078	1.49	0.25487	N	0.987683	D;P	0.60160	0.987;0.936	P;P	0.53912	0.737;0.575	T	0.13683	-1.0500	9	0.87932	D	0	.	5.0816	0.14659	0.1445:0.2114:0.6441:0.0	.	401;433	Q05481-2;Q05481	.;ZNF91_HUMAN	R	433;401	ENSP00000300619:P433R;ENSP00000380272:P401R	ENSP00000300619:P433R	P	-	2	0	ZNF91	23336323	0.487000	0.25988	0.000000	0.03702	0.000000	0.00434	1.495000	0.35627	-0.548000	0.06199	-2.763000	0.00121	CCT	ZNF91	-	pfscan_Znf_C2H2		0.343	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23544483	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.689	C	C	23544483	G	C	23544483	3	2	61	1	0	0	0	0	1	0	0	0	18230	1000	35	4	2281	4	ZNF91	19	23544483	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	8164731	23544483	35584500	283	9626										
GPATCH1	55094	genome.wustl.edu	37	chr19	33587166	33587166	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acctttgcacccaaagatgtCacacctgtggatttcacacc	6	14	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:33587166C>T	ENST00000170564.2	+	7	980	c.666C>T	c.(664-666)gtC>gtT	p.V222V		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	222					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.V222V(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCAAAGATGTCACACCTGTGG	0.443																																					Pancreas(67;88 1713 4567 18227)												1	Substitution - coding silent(1)	cervix(1)											121	118	119					19																	33587166		2203	4300	6503	SO:0001819	synonymous_variant	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.666C>T	19.37:g.33587166C>T			Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.V222	ENST00000170564.2	37	c.666	CCDS12428.1	19																																																																																			GPATCH1	-	NULL		0.443	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	C	NM_018025		33587166	1	no_errors	ENST00000170564	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33587166	C	T	33587166	2	4	61	1	0	0	0	0	0	0	0	1	6609	813	29	1		1	GPATCH1	19	33587166	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	10042683	33587166	25541817	284	9627										
HAUS5	23354	genome.wustl.edu	37	chr19	36106006	36106006	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cgggcagaaatccaggaactCgaccagagcctggagctgat	13	11	0	3	rs570447175		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:36106006C>T	ENST00000203166.5	+	5	307	c.282C>T	c.(280-282)ctC>ctT	p.L94L	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Silent_p.L94L	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	94					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L94L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCCAGGAACTCGACCAGAGCC	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		18169	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	cervix(1)											22	27	26					19																	36106006		2015	4169	6184	SO:0001819	synonymous_variant	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.282C>T	19.37:g.36106006C>T			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.L94	ENST00000203166.5	37	c.282	CCDS42550.1	19																																																																																			HAUS5	-	NULL		0.602	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	C			36106006	1	no_errors	ENST00000203166	ensembl	human	known	70_37	silent	SNP	0.429	T	T	36106006	C	T	36106006	2	4	61	1	0	0	0	0	0	0	0	1	6989	871	31	1		1	HAUS5	19	36106006	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2518840	36106006	23022977	285	9628										
LRFN3	79414	genome.wustl.edu	37	chr19	36431465	36431465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gcgaggccacagctgctgtgGagctgactgtgggtccccca	15	13	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:36431465G>A	ENST00000588831.1	+	3	2192	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	LRFN3_ENST00000246529.3_Missense_Mutation_p.E380K			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	380	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.E380K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCTGCTGTGGAGCTGACTGT	0.667																																																	1	Substitution - Missense(1)	cervix(1)											33	30	31					19																	36431465		2203	4300	6503	SO:0001583	missense	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1138G>A	19.37:g.36431465G>A	ENSP00000466989:p.Glu380Lys		Q6UY10	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E380K	ENST00000588831.1	37	c.1138	CCDS12483.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243287	0.79912	.	.	ENSG00000126243	ENST00000246529	T	0.68181	-0.31	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36703	N	0.002445	T	0.65770	0.2723	L	0.41492	1.28	0.58432	D	0.999992	P	0.36171	0.541	P	0.46885	0.53	T	0.59354	-0.7470	10	0.13108	T	0.6	.	15.7909	0.78364	0.0:0.0:1.0:0.0	.	380	Q9BTN0	LRFN3_HUMAN	K	380	ENSP00000246529:E380K	ENSP00000246529:E380K	E	+	1	0	LRFN3	41123305	1.000000	0.71417	0.998000	0.56505	0.681000	0.39784	9.794000	0.99096	2.320000	0.78422	0.591000	0.81541	GAG	LRFN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	HGNC	protein_coding	OTTHUMT00000457403.2	G	NM_024509		36431465	1	no_errors	ENST00000246529	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36431465	G	A	36431465	3	1	61	1	0	0	0	0	1	0	0	0	8962	1175	41	1	1140	1	LRFN3	19	36431465	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	325459	36431465	22697518	286	9629										
PRX	57716	genome.wustl.edu	37	chr19	40902682	40902682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cctttgggagtttcatctccGacactttcagcagctgtacc	8	13	3	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:40902682G>A	ENST00000324001.7	-	7	1847	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	526	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S526L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTCATCTCCGACACTTTCAG	0.567																																																	1	Substitution - Missense(1)	cervix(1)											83	96	92					19																	40902682		2202	4300	6502	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1577C>T	19.37:g.40902682G>A	ENSP00000326018:p.Ser526Leu		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S526L	ENST00000324001.7	37	c.1577	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698995	0.30142	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02103	4.45	3.9	3.9	0.45041	.	0.465981	0.18231	N	0.147576	T	0.01800	0.0057	N	0.22421	0.69	0.26274	N	0.978372	P	0.39624	0.681	B	0.30495	0.116	T	0.52472	-0.8571	10	0.33940	T	0.23	.	13.4146	0.60961	0.0:0.0:1.0:0.0	.	526	Q9BXM0	PRAX_HUMAN	L	526	ENSP00000326018:S526L	ENSP00000326018:S526L	S	-	2	0	PRX	45594522	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.389000	0.20751	2.011000	0.59026	0.561000	0.74099	TCG	PRX	-	NULL		0.567	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	G	NM_020956		40902682	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	missense	SNP	0.007	A	A	40902682	G	A	40902682	3	1	61	1	0	0	0	0	1	0	0	0	12669	1059	37	1	2812	1	PRX	19	40902682	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4471217	40902682	18226301	287	9630										
SHKBP1	92799	genome.wustl.edu	37	chr19	41083468	41083468	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccccctttcccgcagatcttCatcgacagggaccctacagt	7	17	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:41083468C>T	ENST00000291842.5	+	4	241	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SHKBP1_ENST00000600733.1_Silent_p.F64F	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.F64F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCAGATCTTCATCGACAGGG	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											173	166	168					19																	41083468		2203	4300	6503	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.192C>T	19.37:g.41083468C>T			Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	NULL	p.S7L	ENST00000291842.5	37	c.20	CCDS12560.1	19																																																																																			SHKBP1	-	NULL		0.592	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41083468	1	no_errors	ENST00000595523	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41083468	C	T	41083468	2	4	61	1	0	0	0	0	0	0	0	1	14314	825	29	1		1	SHKBP1	19	41083468	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	180786	41083468	18045515	288	9631										
LTBP4	8425	genome.wustl.edu	37	chr19	41111379	41111379	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cggtggtggtgcaccaggtgGagcgtgtgtctggcccttgg	19	9	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:41111379G>C	ENST00000308370.7	+	6	712	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E201Q|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E171Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	238					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E238Q(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCACCAGGTGGAGCGTGTGTC	0.726																																																	1	Substitution - Missense(1)	cervix(1)											23	27	26					19																	41111379		2012	4124	6136	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.712G>C	19.37:g.41111379G>C	ENSP00000311905:p.Glu238Gln		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E238Q	ENST00000308370.7	37	c.712		19	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853205	0.71719	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80566	-1.38;-1.39;-1.36	3.87	3.87	0.44632	.	0.000000	0.36740	U	0.002435	T	0.74906	0.3778	L	0.50333	1.59	0.80722	D	1	B;B;B	0.32781	0.384;0.384;0.384	B;B;B	0.34093	0.175;0.175;0.175	T	0.74127	-0.3765	10	0.34782	T	0.22	.	12.845	0.57825	0.0:0.0:1.0:0.0	.	171;238;201	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	201;238;171	ENSP00000204005:E201Q;ENSP00000311905:E238Q;ENSP00000380031:E171Q	ENSP00000204005:E201Q	E	+	1	0	LTBP4	45803219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.540000	0.53611	1.981000	0.57761	0.491000	0.48974	GAG	LTBP4	-	NULL		0.726	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41111379	1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41111379	G	C	41111379	3	2	61	1	0	0	0	0	1	0	0	0	9099	1175	41	1	1027	1	LTBP4	19	41111379	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	27911	41111379	18017604	289	9632										
ZNF526	116115	genome.wustl.edu	37	chr19	42729490	42729490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ccactgcagccagtgtcagcGcagtttcagctccgccaacc	9	17	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:42729490G>A	ENST00000301215.3	+	3	1160	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	312					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.R312H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CAGTGTCAGCGCAGTTTCAGC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											20	20	20					19																	42729490		2184	4261	6445	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.935G>A	19.37:g.42729490G>A	ENSP00000301215:p.Arg312His		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R312H	ENST00000301215.3	37	c.935	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161412	0.78226	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.44881	0.91	4.53	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.63153	0.2487	M	0.70275	2.135	0.47407	D	0.999412	D	0.89917	1.0	D	0.77004	0.989	T	0.67325	-0.5699	10	0.87932	D	0	-24.6695	15.1629	0.72798	0.0:0.0:1.0:0.0	.	312	Q8TF50	ZN526_HUMAN	H	168;312	ENSP00000301215:R312H	ENSP00000301215:R312H	R	+	2	0	ZNF526	47421330	0.028000	0.19301	1.000000	0.80357	0.977000	0.68977	1.808000	0.38912	2.524000	0.85096	0.563000	0.77884	CGC	ZNF526	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	G	XM_057401		42729490	1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42729490	G	A	42729490	3	1	61	1	0	0	0	0	1	0	0	0	17997	1087	38	2	937	2	ZNF526	19	42729490	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1618111	42729490	16399493	290	9633										
RSPH6A	81492	genome.wustl.edu	37	chr19	46307553	46307553	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gatgcacccagttggccatgGagtcgaccagctccagcacg	12	14	0	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:46307553G>C	ENST00000221538.3	-	3	1752	c.1610C>G	c.(1609-1611)tCc>tGc	p.S537C	RSPH6A_ENST00000597055.1_Missense_Mutation_p.S537C|RSPH6A_ENST00000600188.1_Missense_Mutation_p.S273C	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	537	Glu-rich.					intracellular (GO:0005622)		p.S537C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTTGGCCATGGAGTCGACCAG	0.662																																																	1	Substitution - Missense(1)	cervix(1)											56	52	53					19																	46307553		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1610C>G	19.37:g.46307553G>C	ENSP00000221538:p.Ser537Cys		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.S537C	ENST00000221538.3	37	c.1610	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510426	0.64522	.	.	ENSG00000104941	ENST00000221538	T	0.19394	2.15	3.86	3.86	0.44501	.	0.136026	0.50627	D	0.000101	T	0.46619	0.1402	M	0.84585	2.705	0.26779	N	0.969636	D	0.89917	1.0	D	0.81914	0.995	T	0.35276	-0.9795	10	0.87932	D	0	-0.8922	9.7895	0.40697	0.0:0.2102:0.7898:0.0	.	537	Q9H0K4	RSH6A_HUMAN	C	537	ENSP00000221538:S537C	ENSP00000221538:S537C	S	-	2	0	RSPH6A	50999393	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.671000	0.68095	2.462000	0.83206	0.505000	0.49811	TCC	RSPH6A	-	pfam_Radial_spoke		0.662	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	G			46307553	-1	no_errors	ENST00000221538	ensembl	human	known	70_37	missense	SNP	0.995	C	C	46307553	G	C	46307553	3	2	61	1	0	0	0	0	1	0	0	0	13737	1174	41	1	559	1	RSPH6A	19	46307553	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3578063	46307553	12821430	291	9634										
SYMPK	8189	genome.wustl.edu	37	chr19	46341781	46341781	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctcagctgtgatgtccgtgtCtgactggccggagatctgcg	14	11	3	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:46341781C>G	ENST00000245934.7	-	10	1424	c.1180G>C	c.(1180-1182)Gac>Cac	p.D394H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	394					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D394H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGTCCGTGTCTGACTGGCCG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											81	64	70					19																	46341781		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1180G>C	19.37:g.46341781C>G	ENSP00000245934:p.Asp394His		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.D394H	ENST00000245934.7	37	c.1180	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644774	0.67358	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.87	5.87	0.94306	Armadillo-type fold (1);	0.052645	0.85682	D	0.000000	T	0.44932	0.1317	N	0.22421	0.69	0.51482	D	0.999929	D;B	0.54601	0.967;0.291	B;B	0.43701	0.428;0.125	T	0.46190	-0.9209	9	0.54805	T	0.06	.	17.7724	0.88496	0.0:1.0:0.0:0.0	.	409;394	Q4LE61;Q92797	.;SYMPK_HUMAN	H	394	.	ENSP00000245934:D394H	D	-	1	0	SYMPK	51033621	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.827000	0.75303	2.798000	0.96311	0.650000	0.86243	GAC	SYMPK	-	superfamily_ARM-type_fold		0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46341781	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46341781	C	G	46341781	3	3	61	1	0	0	0	0	1	0	0	0	15469	913	32	1	2716	1	SYMPK	19	46341781	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	34228	46341781	12787202	292	9635										
SLC1A5	6510	genome.wustl.edu	37	chr19	47287779	47287779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cccctgaggactcactgagcGaaaggctgctgacaccaggt	12	13	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:47287779G>A	ENST00000542575.2	-	2	1232	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	SLC1A5_ENST00000412532.2_5'UTR|SLC1A5_ENST00000434726.2_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.R26C	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	202					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)	p.R202C(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTCACTGAGCGAAAGGCTGCT	0.552																																																	1	Substitution - Missense(1)	cervix(1)											128	126	127					19																	47287779		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.604C>T	19.37:g.47287779G>A	ENSP00000444408:p.Arg202Cys		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R202C	ENST00000542575.2	37	c.604	CCDS12692.1	19	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488554	0.84854	.	.	ENSG00000105281	ENST00000542575;ENST00000306894	T	0.59906	0.23	5.29	-0.00794	0.14007	.	0.940554	0.08956	N	0.869354	T	0.74390	0.3710	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.65140	0.932;0.932	T	0.76211	-0.3042	10	0.87932	D	0	-1.7904	14.2664	0.66121	0.0:0.0:0.5111:0.4889	.	202;202	Q15758;Q71UA6	AAAT_HUMAN;.	C	202;209	ENSP00000444408:R202C	ENSP00000303623:R209C	R	-	1	0	SLC1A5	51979619	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	2.724000	0.47285	0.249000	0.21456	0.650000	0.86243	CGC	SLC1A5	-	pfam_Na-dicarboxylate_symporter		0.552	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	G			47287779	-1	no_errors	ENST00000542575	ensembl	human	known	70_37	missense	SNP	0.998	A	A	47287779	G	A	47287779	3	1	61	1	0	0	0	0	1	0	0	0	14465	1058	37	1	1049	1	SLC1A5	19	47287779	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	945998	47287779	11841204	293	9636										
RPL13A	23521	genome.wustl.edu	37	chr19	49993523	49993523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtcgtacgctgtgaaggcatCaacatttctggcaatttcta	9	9	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:49993523C>G	ENST00000391857.4	+	3	199	c.123C>G	c.(121-123)atC>atG	p.I41M	SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	41					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I41M(1)		cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GTGAAGGCATCAACATTTCTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											54	51	52					19																	49993523		2203	4300	6503	SO:0001583	missense	23521			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.123C>G	19.37:g.49993523C>G	ENSP00000375730:p.Ile41Met		A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.I41M	ENST00000391857.4	37	c.123	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165375	0.78339	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	4.92	3.89	0.44902	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000002	T	0.70386	0.3218	M	0.86953	2.85	0.53688	D	0.999977	P	0.52316	0.952	P	0.56788	0.806	T	0.71391	-0.4607	9	0.54805	T	0.06	.	6.0476	0.19768	0.1874:0.7158:0.0:0.0969	.	41	P40429	RL13A_HUMAN	M	41	.	ENSP00000375730:I41M	I	+	3	3	RPL13A	54685335	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.155000	0.42301	1.065000	0.40693	0.655000	0.94253	ATC	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc		0.557	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	C			49993523	1	no_errors	ENST00000391857	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49993523	C	G	49993523	3	3	61	1	0	0	0	0	1	0	0	0	13590	816	29	1	133	1	RPL13A	19	49993523	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2705744	49993523	9135460	294	9637										
PRMT1	3276	genome.wustl.edu	37	chr19	50188017	50188017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ctgcccctctgtaggcgcccGatggcctcatcttcccagac	9	18	3	1	rs544334510		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:50188017G>A	ENST00000391851.4	+	6	637	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PRMT1_ENST00000532489.1_Missense_Mutation_p.D142N|PRMT1_ENST00000454376.2_Missense_Mutation_p.D188N|MIR5088_ENST00000581740.1_RNA	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	178	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.D164N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GTAGGCGCCCGATGGCCTCAT	0.647											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											19	16	17					19																	50188017		2133	4205	6338	SO:0001583	missense	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.508G>A	19.37:g.50188017G>A	ENSP00000375724:p.Asp170Asn	967	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.D188N	ENST00000391851.4	37	c.562	CCDS42592.1	19	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683395	0.47991	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000526224	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	4.53	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	L	0.42008	1.315	0.47994	D	0.999569	B;B;B;B	0.10296	0.003;0.001;0.003;0.003	B;B;B;B	0.12837	0.008;0.003;0.003;0.003	T	0.03875	-1.0996	10	0.46703	T	0.11	-5.6881	11.5934	0.50959	0.0:0.0:0.8203:0.1797	.	178;142;170;164	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	N	142;142;142;142;170;164;188;142	ENSP00000432349:D142N;ENSP00000433556:D142N;ENSP00000432538:D142N;ENSP00000431957:D142N;ENSP00000375724:D170N;ENSP00000406162:D188N;ENSP00000432788:D142N	ENSP00000375724:D170N	D	+	1	0	PRMT1	54879829	1.000000	0.71417	0.200000	0.23457	0.238000	0.25445	9.334000	0.96470	1.116000	0.41820	-0.282000	0.10007	GAT	PRMT1	-	pfam_Arg_MeTrfase,pfam_Methyltransf_11		0.647	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT1	HGNC	protein_coding	OTTHUMT00000395065.1	G	NM_001536		50188017	1	no_errors	ENST00000454376	ensembl	human	known	70_37	missense	SNP	0.677	A	A	50188017	G	A	50188017	3	1	61	1	0	0	0	0	1	0	0	0	12562	1058	37	1	588	1	PRMT1	19	50188017	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	194494	50188017	8940966	295	9638										
ZNF347	84671	genome.wustl.edu	37	chr19	53645643	53645644	+	In_Frame_Ins	INS	-	-	TTG													0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgtaatttccttcagcatctINSctgcattgatactcaaggcc							TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:53645643_53645644insTTG	ENST00000334197.7	-	5	505_506	c.437_438insCAA	c.(436-438)aga>agCAAa	p.146_146R>SK	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_In_Frame_Ins_p.147_147R>SK|ZNF347_ENST00000452676.2_In_Frame_Ins_p.147_147R>SK	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTTCAGCATCTCTGCATTGATA	0.406																																					Melanoma(64;205 1597 17324 45721)												0																																										SO:0001652	inframe_insertion	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.437_438insCAA	19.37:g.53645643_53645644insTTG	ENSP00000334146:p.Arg146delinsSerLys		B3KU77|B9EG59|G5E9N4|Q8TCN1	In_Frame_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R147in_frame_insSK	ENST00000334197.7	37	c.441_440	CCDS33097.1	19																																																																																			ZNF347	-	NULL		0.406	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	-	NM_032584		53645644	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	in_frame_ins	INS	0.000:0.000	TTG	TTG	53645644	-	TTG	53645643	7	5	61	1	0	1	1	0	0	0	0	0	17891	1548	54	0	2085	0	ZNF347	19	53645643	In_Frame_Ins	INS	-	TCGA-DS-A0VM-01A-11D-A10S-08	3457626	53645643	5483340	296	9639										
NLRP11	204801	genome.wustl.edu	37	chr19	56321310	56321310	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcgaggatgaaaaggagtttCttgggatcagacaggatgtc	14	5	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:56321310C>G	ENST00000589093.1	-	3	759	c.666G>C	c.(664-666)aaG>aaC	p.K222N	NLRP11_ENST00000443188.1_Missense_Mutation_p.K222N|NLRP11_ENST00000589824.2_Missense_Mutation_p.K222N|NLRP11_ENST00000360133.3_Missense_Mutation_p.K222N|NLRP11_ENST00000592953.1_Missense_Mutation_p.K123N			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	222	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.K222N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAAGGAGTTTCTTGGGATCAG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											84	82	83					19																	56321310		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.666G>C	19.37:g.56321310C>G	ENSP00000466285:p.Lys222Asn		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K222N	ENST00000589093.1	37	c.666	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158363	0.38119	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.78816	-1.21;-1.21	2.48	1.38	0.22167	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.78091	0.4229	L	0.42245	1.32	0.09310	N	1	D;P	0.55385	0.971;0.935	P;P	0.61722	0.893;0.879	T	0.64542	-0.6383	9	0.66056	D	0.02	.	3.6858	0.08327	0.0:0.5827:0.2646:0.1527	.	222;222	P59045;P59045-2	NAL11_HUMAN;.	N	222	ENSP00000409898:K222N;ENSP00000353251:K222N	ENSP00000353251:K222N	K	-	3	2	NLRP11	61013122	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	-0.068000	0.11561	0.560000	0.29169	0.609000	0.83330	AAG	NLRP11	-	pfscan_NACHT_NTPase		0.473	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56321310	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	missense	SNP	0.001	G	G	56321310	C	G	56321310	3	3	61	1	0	0	0	0	1	0	0	0	10497	912	32	1	2467	1	NLRP11	19	56321310	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	2675667	56321310	2807673	297	9640										
ZNF8	7554	genome.wustl.edu	37	chr19	58806467	58806467	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tttgagtgccgccagaggctGatctttgagcagacgccagc	13	11	1	5			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:58806467G>A	ENST00000196548.5	+	4	1424	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	ZNF8_ENST00000608843.1_Silent_p.L431L|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	431					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L431L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCAGAGGCTGATCTTTGAGC	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											82	86	85					19																	58806467		2203	4300	6503	SO:0001819	synonymous_variant	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1293G>A	19.37:g.58806467G>A			Q6PI99	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L431	ENST00000196548.5	37	c.1293	CCDS12974.1	19																																																																																			ZNF8	-	NULL		0.592	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58806467	1	no_errors	ENST00000196548	ensembl	human	known	70_37	silent	SNP	0.508	A	A	58806467	G	A	58806467	2	1	61	1	0	0	0	0	0	0	0	1	18197	1277	45	1		1	ZNF8	19	58806467	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2485157	58806467	322516	298	9641										
SEMG1	6406	genome.wustl.edu	37	chr20	43836630	43836630	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgaagtgagagaggaacattCaagtaaagtacaaacctcac	9	7	2	3	rs565546419		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:43836630C>G	ENST00000372781.3	+	2	749	c.692C>G	c.(691-693)tCa>tGa	p.S231*	SEMG1_ENST00000244069.6_Nonsense_Mutation_p.S231*	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	231	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S231*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAGGAACATTCAAGTAAAGTA	0.388													C|||	1	0.000199681	8e-04	0	5008	,	,		22539	0		0	False		,,,				2504	0																1	Substitution - Nonsense(1)	cervix(1)											112	96	101					20																	43836630		2203	4300	6503	SO:0001587	stop_gained	6406				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.692C>G	20.37:g.43836630C>G	ENSP00000361867:p.Ser231*		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Nonsense_Mutation	SNP	pfam_Semenogelin	p.S231*	ENST00000372781.3	37	c.692	CCDS13345.1	20	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849738	0.32699	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	.	.	.	1.43	0.319	0.15873	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.2022	0.15271	0.0:0.6259:0.3741:0.0	.	.	.	.	X	231	.	ENSP00000244069:S231X	S	+	2	0	SEMG1	43270044	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-0.574000	0.05868	0.103000	0.17682	0.557000	0.71058	TCA	SEMG1	-	pfam_Semenogelin		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	HGNC	protein_coding	OTTHUMT00000079416.3	C	NM_003007		43836630	1	no_errors	ENST00000372781	ensembl	human	known	70_37	nonsense	SNP	0.002	G	G	43836630	C	G	43836630	4	3	61	1	0	0	0	0	0	1	0	0	14074	838	29	1	698	1	SEMG1	20	43836630	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08		43836630	19188890	299	9642										
SNAI1	6615	genome.wustl.edu	37	chr20	48604538	48604538	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtgtgctcggaccttctcccGaatgtccctgctccacaagc	9	16	1	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:48604538G>C	ENST00000244050.2	+	3	801	c.740G>C	c.(739-741)cGa>cCa	p.R247P		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	247	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R247P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACCTTCTCCCGAATGTCCCTG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											130	108	116					20																	48604538		2203	4300	6503	SO:0001583	missense	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.740G>C	20.37:g.48604538G>C	ENSP00000244050:p.Arg247Pro		B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R247P	ENST00000244050.2	37	c.740	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761947	0.89932	.	.	ENSG00000124216	ENST00000244050	T	0.19669	2.13	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44952	-0.9294	10	0.72032	D	0.01	-35.73	18.6122	0.91290	0.0:0.0:1.0:0.0	.	247	O95863	SNAI1_HUMAN	P	247	ENSP00000244050:R247P	ENSP00000244050:R247P	R	+	2	0	SNAI1	48037945	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.591000	0.82666	2.467000	0.83353	0.462000	0.41574	CGA	SNAI1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1	G			48604538	1	no_errors	ENST00000244050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48604538	G	C	48604538	3	2	61	1	0	0	0	0	1	0	0	0	14856	1058	37	1	750	1	SNAI1	20	48604538	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4767908	48604538	14420982	300	9643										
ATP9A	10079	genome.wustl.edu	37	chr20	50346391	50346391	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	accccaggaagaaaggtgaaGaaattgtacttctgattgtt	10	6	1	4	rs370100451		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:50346391G>T	ENST00000338821.5	-	2	459	c.195C>A	c.(193-195)ttC>ttA	p.F65L	ATP9A_ENST00000402822.1_Missense_Mutation_p.F65L|ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Missense_Mutation_p.F50L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	65					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F65L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAGGTGAAGAAATTGTACT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											148	124	132					20																	50346391		2203	4300	6503	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.195C>A	20.37:g.50346391G>T	ENSP00000342481:p.Phe65Leu		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.F65L	ENST00000338821.5	37	c.195	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093444	0.08632	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.50001	0.76;0.76;0.76	5.27	0.761	0.18448	.	0.091143	0.85682	D	0.000000	T	0.26340	0.0643	N	0.02420	-0.555	0.23101	N	0.998292	P;B	0.37141	0.584;0.0	P;B	0.50617	0.646;0.001	T	0.27226	-1.0080	10	0.15499	T	0.54	-24.5361	4.0759	0.09904	0.1982:0.1094:0.5801:0.1123	.	65;65	O75110-2;O75110	.;ATP9A_HUMAN	L	50;65;65	ENSP00000309086:F50L;ENSP00000342481:F65L;ENSP00000385875:F65L	ENSP00000309086:F50L	F	-	3	2	ATP9A	49779798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.487000	0.35540	0.291000	0.22468	0.563000	0.77884	TTC	ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	G	NM_006045		50346391	-1	no_errors	ENST00000338821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50346391	G	T	50346391	3	4	61	1	0	0	0	0	1	0	0	0	1199	933	33	3	3056	3	ATP9A	20	50346391	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1741853	50346391	12679129	301	9644										
NEFH	4744	genome.wustl.edu	37	chr22	29886321	29886321	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	aagccaagaaggaagaggctGaagataagaaaaaagtcccc	11	7	0	5			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:29886321G>A	ENST00000310624.6	+	4	2725	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	904	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E898K(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGAAGAGGCTGAAGATAAGAA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											54	60	58					22																	29886321		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2692G>A	22.37:g.29886321G>A	ENSP00000311997:p.Glu898Lys		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E898K	ENST00000310624.6	37	c.2692	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245534	0.39697	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.85171	-1.95	5.8	3.63	0.41609	.	0.724406	0.12423	N	0.470245	T	0.80737	0.4680	L	0.50333	1.59	0.22199	N	0.999293	B	0.10296	0.003	B	0.06405	0.002	T	0.65578	-0.6134	10	0.27785	T	0.31	.	11.4442	0.50114	0.0692:0.1262:0.8046:0.0	.	904	P12036	NFH_HUMAN	K	849;898	ENSP00000311997:E898K	ENSP00000311997:E898K	E	+	1	0	NEFH	28216321	0.002000	0.14202	0.607000	0.28956	0.940000	0.58332	0.849000	0.27723	0.729000	0.32403	0.655000	0.94253	GAA	NEFH	-	NULL		0.502	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29886321	1	no_errors	ENST00000310624	ensembl	human	known	70_37	missense	SNP	0.585	A	A	29886321	G	A	29886321	3	1	61	1	0	0	0	0	1	0	0	0	10338	1291	45	1	2706	1	NEFH	22	29886321	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08		29886321	21418245	302	9645										
CERK	64781	genome.wustl.edu	37	chr22	47107008	47107008	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtatttgtctatgttaatctCatacagagtctccttggcct	7	9	3	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:47107008C>T	ENST00000216264.8	-	5	656	c.544G>A	c.(544-546)Gag>Aag	p.E182K	CERK_ENST00000541677.1_Intron	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	182	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.E182K(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATGTTAATCTCATACAGAGTC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											195	167	176					22																	47107008		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.544G>A	22.37:g.47107008C>T	ENSP00000216264:p.Glu182Lys		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.E182K	ENST00000216264.8	37	c.544	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625076	0.28889	.	.	ENSG00000100422	ENST00000216264	T	0.25085	1.82	4.88	4.88	0.63580	Diacylglycerol kinase, catalytic domain (3);	0.323223	0.31233	N	0.008008	T	0.21347	0.0514	L	0.38953	1.18	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.04635	-1.0937	10	0.17832	T	0.49	-20.2226	15.5398	0.76035	0.0:1.0:0.0:0.0	.	182	Q8TCT0	CERK1_HUMAN	K	182	ENSP00000216264:E182K	ENSP00000216264:E182K	E	-	1	0	CERK	45485672	1.000000	0.71417	0.779000	0.31741	0.128000	0.20619	3.825000	0.55730	2.267000	0.75376	0.609000	0.83330	GAG	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom		0.413	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	C	NM_022766		47107008	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	missense	SNP	0.987	T	T	47107008	C	T	47107008	3	4	61	1	0	0	0	0	1	0	0	0	3272	835	29	1	1105	1	CERK	22	47107008	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	17220687	47107008	4197558	303	9646										
ASMTL	8623	genome.wustl.edu	37	chrX	1531691	1531691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtcgtctggccagtcatgcaGgatccggcacaggacgtaca	13	12	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:1531691G>A	ENST00000381317.3	-	12	1611	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	ASMTL_ENST00000416733.2_Silent_p.L451L|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Silent_p.L511L|ASMTL_ENST00000534940.1_Silent_p.L469L|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	527	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.R104K(1)|p.L527L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTCATGCAGGATCCGGCAC	0.542																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)											173	184	180					X																	1531691		2026	4185	6211	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1579C>T	X.37:g.1531691G>A			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.L527	ENST00000381317.3	37	c.1579	CCDS43917.1	X																																																																																			ASMTL	-	pfam_O_MeTrfase_2		0.542	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1531691	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1531691	G	A	1531691	2	1	61	1	0	0	0	0	0	0	0	1	1047	991	35	4		4	ASMTL	23	1531691	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08		1531691	153738869	304	9647										
MXRA5	25878	genome.wustl.edu	37	chrX	3229099	3229099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	ggatcaccttgttggttgggGacaaccaagtcaccttgggc	13	10	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:3229099G>A	ENST00000217939.6	-	7	7299	c.7145C>T	c.(7144-7146)tCc>tTc	p.S2382F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2382	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)		p.S2382F(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTGGTTGGGGACAACCAAGT	0.532																																																	2	Substitution - Missense(2)	cervix(2)											119	101	107					X																	3229099		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7145C>T	X.37:g.3229099G>A	ENSP00000217939:p.Ser2382Phe		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2382F	ENST00000217939.6	37	c.7145	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	7.727	0.698448	0.15106	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.26223	1.75	3.97	3.97	0.46021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	U	0.001913	T	0.35098	0.0920	N	0.16790	0.44	0.44104	D	0.996879	D	0.89917	1.0	D	0.91635	0.999	T	0.36114	-0.9761	10	0.56958	D	0.05	.	15.78	0.78252	0.0:0.0:1.0:0.0	.	2382	Q9NR99	MXRA5_HUMAN	F	2382	ENSP00000217939:S2382F	ENSP00000217939:S2382F	S	-	2	0	MXRA5	3239099	1.000000	0.71417	0.007000	0.13788	0.031000	0.12232	4.965000	0.63708	1.616000	0.50265	0.597000	0.82753	TCC	MXRA5	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3229099	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.947	A	A	3229099	G	A	3229099	3	1	61	1	0	0	0	0	1	0	0	0	10026	1174	41	1	1345	1	MXRA5	23	3229099	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1697408	3229099	152041461	305	9648										
SHROOM2	357	genome.wustl.edu	37	chrX	9864427	9864427	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaatcccgagagacaagccaGagaggccgcggacagcgggc	16	12	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:9864427G>A	ENST00000380913.3	+	4	2569	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	827					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.E827K(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGACAAGCCAGAGAGGCCGCG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											45	43	44					X																	9864427		2203	4300	6503	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2479G>A	X.37:g.9864427G>A	ENSP00000370299:p.Glu827Lys		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E827K	ENST00000380913.3	37	c.2479	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	7.878	0.729569	0.15507	.	.	ENSG00000146950	ENST00000380913	T	0.16196	2.36	5.02	3.22	0.36961	.	1.922070	0.01793	N	0.032421	T	0.21387	0.0515	L	0.54323	1.7	0.09310	N	1	P	0.49090	0.919	B	0.42692	0.395	T	0.13710	-1.0499	10	0.42905	T	0.14	-21.6367	5.7731	0.18263	0.1634:0.3071:0.5295:0.0	.	827	Q13796	SHRM2_HUMAN	K	827	ENSP00000370299:E827K	ENSP00000370299:E827K	E	+	1	0	SHROOM2	9824427	0.948000	0.32251	0.013000	0.15412	0.023000	0.10783	3.346000	0.52190	0.898000	0.36418	0.600000	0.82982	GAG	SHROOM2	-	NULL		0.617	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	G	NM_001649		9864427	1	no_errors	ENST00000380913	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9864427	G	A	9864427	3	1	61	1	0	0	0	0	1	0	0	0	14324	943	33	1	2493	1	SHROOM2	23	9864427	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6635328	9864427	145406133	306	9649										
TLR8	51311	genome.wustl.edu	37	chrX	12939946	12939946	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gatccgggattggccatcatCgacaacctcatgcagagcat	10	12	2	1	rs5744084	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:12939946C>T	ENST00000218032.6	+	2	2874	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	TLR8_ENST00000311912.5_Silent_p.I947I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	929	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TGGCCATCATCGACAACCTCA	0.428																																																	0													73	75	74					X																	12939946		2203	4300	6503	SO:0001819	synonymous_variant	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2787C>T	X.37:g.12939946C>T			B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I929	ENST00000218032.6	37	c.2787	CCDS14152.1	X																																																																																			TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.428	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	C	NM_016610		12939946	1	no_errors	ENST00000218032	ensembl	human	known	70_37	silent	SNP	0.739	T	T	12939946	C	T	12939946	2	4	61	1	0	0	0	0	0	0	0	1	15987	874	31	1		1	TLR8	23	12939946	Silent	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3075519	12939946	142330614	307	9650										
RS1	6247	genome.wustl.edu	37	chrX	18662593	18662593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgtagtaaatccagttcaggCgctcatcggtcctgtactgc	10	11	2	0			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:18662593C>T	ENST00000379984.3	-	5	519	c.479G>A	c.(478-480)cGc>cAc	p.R160H	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	160	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.R160H(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCAGTTCAGGCGCTCATCGGT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											171	131	145					X																	18662593		2203	4300	6503	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.479G>A	X.37:g.18662593C>T	ENSP00000369320:p.Arg160His		Q0QD39	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R160H	ENST00000379984.3	37	c.479	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	c	13.15	2.150055	0.37923	.	.	ENSG00000102104	ENST00000379984	D	0.98914	-5.23	4.91	2.2	0.27929	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.615775	0.18885	N	0.128465	D	0.93769	0.8008	N	0.15975	0.35	0.24352	N	0.994919	B	0.02656	0.0	B	0.06405	0.002	D	0.87174	0.2223	10	0.30078	T	0.28	.	4.3485	0.11144	0.0:0.4003:0.1629:0.4368	.	160	O15537	XLRS1_HUMAN	H	160	ENSP00000369320:R160H	ENSP00000369320:R160H	R	-	2	0	RS1	18572514	0.325000	0.24660	0.998000	0.56505	0.995000	0.86356	0.505000	0.22642	0.219000	0.20840	-0.201000	0.12746	CGC	RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.537	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	C			18662593	-1	no_errors	ENST00000379984	ensembl	human	known	70_37	missense	SNP	0.979	T	T	18662593	C	T	18662593	3	4	61	1	0	0	0	0	1	0	0	0	13723	768	27	2	203	2	RS1	23	18662593	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	5722647	18662593	136607967	308	9651										
KLHL34	257240	genome.wustl.edu	37	chrX	21675600	21675600	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	caggtagctggcggcctccaGagtgtcctctacagtgtcca	12	13	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:21675600G>A	ENST00000379499.2	-	1	848	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	103						extracellular space (GO:0005615)		p.L103L(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGGCCTCCAGAGTGTCCTCT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											23	23	23					X																	21675600		2203	4293	6496	SO:0001819	synonymous_variant	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.307C>T	X.37:g.21675600G>A				Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L103	ENST00000379499.2	37	c.307	CCDS14199.1	X																																																																																			KLHL34	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.642	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1	G	NM_153270		21675600	-1	no_errors	ENST00000379499	ensembl	human	known	70_37	silent	SNP	0.998	A	A	21675600	G	A	21675600	2	1	61	1	0	0	0	0	0	0	0	1	8407	933	33	1		1	KLHL34	23	21675600	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	3013007	21675600	133594960	309	9652										
MAGEB18	286514	genome.wustl.edu	37	chrX	26157793	26157793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	atatgatgggtgtatatgccGataggaagcacttcctctat	10	7	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:26157793G>A	ENST00000325250.1	+	2	878	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	231	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.D231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTATATGCCGATAGGAAGCA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											49	43	45					X																	26157793		2202	4300	6502	SO:0001583	missense	286514			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.691G>A	X.37:g.26157793G>A	ENSP00000314543:p.Asp231Asn			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D231N	ENST00000325250.1	37	c.691	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	G	5.343	0.248606	0.10130	.	.	ENSG00000176774	ENST00000325250	T	0.04654	3.58	4.56	2.44	0.29823	.	0.414727	0.26859	N	0.022129	T	0.03263	0.0095	N	0.20807	0.61	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.39354	-0.9618	10	0.59425	D	0.04	.	5.4632	0.16627	0.3089:0.0:0.6911:0.0	.	231	Q96M61	MAGBI_HUMAN	N	231	ENSP00000314543:D231N	ENSP00000314543:D231N	D	+	1	0	MAGEB18	26067714	0.181000	0.23161	0.137000	0.22149	0.059000	0.15707	0.957000	0.29215	0.473000	0.27368	0.600000	0.82982	GAT	MAGEB18	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	G	NM_173699		26157793	1	no_errors	ENST00000325250	ensembl	human	known	70_37	missense	SNP	0.136	A	A	26157793	G	A	26157793	3	1	61	1	0	0	0	0	1	0	0	0	9198	1058	37	1	693	1	MAGEB18	23	26157793	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	4482193	26157793	129112767	310	9653										
DMD	1756	genome.wustl.edu	37	chrX	32591732	32591732	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcactgcatcttctttttctGaaagccatgcactaaaaagg	6	10	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:32591732G>A	ENST00000357033.4	-	15	1933	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	DMD_ENST00000288447.4_Missense_Mutation_p.S568L|DMD_ENST00000378677.2_Missense_Mutation_p.S572L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	576					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S576L(1)|p.S571L(1)|p.S572L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTTTTTCTGAAAGCCATGC	0.338																																																	3	Substitution - Missense(3)	cervix(3)											90	81	84					X																	32591732		2201	4300	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1727C>T	X.37:g.32591732G>A	ENSP00000354923:p.Ser576Leu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.S576L	ENST00000357033.4	37	c.1727	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	g	20.6	4.016466	0.75161	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447;ENST00000447523	T;T;T;T	0.63744	1.29;1.29;1.29;-0.06	5.15	5.15	0.70609	.	0.319538	0.17031	U	0.189682	T	0.56543	0.1992	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.30406	0.278;0.206;0.136;0.131	B;B;B;B	0.25140	0.057;0.058;0.031;0.026	T	0.53968	-0.8363	10	0.30078	T	0.28	.	17.7834	0.88530	0.0:0.0:1.0:0.0	.	568;568;576;572	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	L	568;572;576;576;453;568;124	ENSP00000367948:S572L;ENSP00000354923:S576L;ENSP00000288447:S568L;ENSP00000395904:S124L	ENSP00000288447:S568L	S	-	2	0	DMD	32501653	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.041000	0.70988	2.130000	0.65690	0.534000	0.68092	TCA	DMD	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32591732	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32591732	G	A	32591732	3	1	61	1	0	0	0	0	1	0	0	0	4590	1294	45	1	9833	1	DMD	23	32591732	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	6433939	32591732	122678828	311	9654										
UBA1	7317	genome.wustl.edu	37	chrX	47062948	47062948	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gttgcttcttaggtgggtgcGggggccattggctgtgagct	18	7	1	1	rs145317174		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:47062948G>C	ENST00000335972.6	+	14	1611	c.1428G>C	c.(1426-1428)gcG>gcC	p.A476A	UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377351.4_Silent_p.A476A|INE1_ENST00000456273.1_RNA	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	476	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.A476A(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGTGGGTGCGGGGGCCATTG	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											78	67	71					X																	47062948		2203	4300	6503	SO:0001819	synonymous_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1428G>C	X.37:g.47062948G>C			Q5JRR8|Q96E13	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A476	ENST00000335972.6	37	c.1428	CCDS14275.1	X																																																																																			UBA1	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.562	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	G	NM_003334		47062948	1	no_errors	ENST00000335972	ensembl	human	known	70_37	silent	SNP	0.779	C	C	47062948	G	C	47062948	2	2	61	1	0	0	0	0	0	0	0	1	16858	1103	39	2		2	UBA1	23	47062948	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	14471216	47062948	108207612	312	9655										
AKAP4	8852	genome.wustl.edu	37	chrX	49958365	49958365	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	acctgatttgcataaaccatGagccccttgctgatggaatc	8	11	0	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:49958365G>A	ENST00000376056.2	-	5	1122	c.972C>T	c.(970-972)ctC>ctT	p.L324L	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.L333L|AKAP4_ENST00000376064.3_Silent_p.L324L					A kinase (PRKA) anchor protein 4									p.L333L(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATAAACCATGAGCCCCTTGC	0.458																																																	2	Substitution - coding silent(2)	cervix(1)|breast(1)											55	48	50					X																	49958365		2203	4300	6503	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.972C>T	X.37:g.49958365G>A				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.L333	ENST00000376056.2	37	c.999	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	G	NM_003886		49958365	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	silent	SNP	0.470	A	A	49958365	G	A	49958365	2	1	61	1	0	0	0	0	0	0	0	1	453	1277	45	1		1	AKAP4	23	49958365	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	2895417	49958365	105312195	313	9656										
GPR173	54328	genome.wustl.edu	37	chrX	53106338	53106338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	accagtgcatctttgagcatCgctacttcaaggccaatgac	8	12	2	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:53106338C>T	ENST00000332582.4	+	2	1026	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	179					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.R179C(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CTTTGAGCATCGCTACTTCAA	0.552																																																	2	Substitution - Missense(2)	cervix(2)											58	52	54					X																	53106338		2203	4299	6502	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.535C>T	X.37:g.53106338C>T	ENSP00000331600:p.Arg179Cys		B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R179C	ENST00000332582.4	37	c.535	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766339	0.69878	.	.	ENSG00000184194	ENST00000332582	T	0.38240	1.15	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54938	-0.8218	10	0.38643	T	0.18	-11.252	14.5349	0.67953	0.0:1.0:0.0:0.0	.	179	Q9NS66	GP173_HUMAN	C	179	ENSP00000331600:R179C	ENSP00000331600:R179C	R	+	1	0	GPR173	53123063	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.010000	0.58986	0.529000	0.55759	CGC	GPR173	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	C	NM_018969		53106338	1	no_errors	ENST00000332582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53106338	C	T	53106338	3	4	61	1	0	0	0	0	1	0	0	0	6690	884	31	1	537	1	GPR173	23	53106338	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	3147973	53106338	102164222	314	9657										
TRO	7216	genome.wustl.edu	37	chrX	54950197	54950197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gacccggggcaaaagaaaccGaaaggtgagatctctgacat	12	9	1	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:54950197G>A	ENST00000173898.7	+	3	1344	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.R411Q|TRO_ENST00000319167.8_Missense_Mutation_p.R411Q|TRO_ENST00000375041.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000420798.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	411					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R411Q(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAAGAAACCGAAAGGTGAGA	0.468																																																	2	Substitution - Missense(2)	cervix(2)											33	42	39					X																	54950197		1894	4118	6012	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1232G>A	X.37:g.54950197G>A	ENSP00000173898:p.Arg411Gln		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R411Q	ENST00000173898.7	37	c.1232	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620302	0.28801	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.52983	0.64;0.64;0.64	2.7	0.747	0.18371	.	.	.	.	.	T	0.24470	0.0593	N	0.19112	0.55	0.80722	D	1	B;B	0.26547	0.152;0.122	B;B	0.18263	0.021;0.015	T	0.05146	-1.0903	8	.	.	.	.	4.5173	0.11940	0.3621:0.0:0.6379:0.0	.	411;411	Q96SX2;Q12816	.;TROP_HUMAN	Q	411	ENSP00000173898:R411Q;ENSP00000318278:R411Q;ENSP00000364162:R411Q	.	R	+	2	0	TRO	54966922	0.047000	0.20315	0.997000	0.53966	0.884000	0.51177	-0.525000	0.06214	0.056000	0.16144	0.509000	0.49947	CGA	TRO	-	NULL		0.468	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	G	NM_016157		54950197	1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.997	A	A	54950197	G	A	54950197	3	1	61	1	0	0	0	0	1	0	0	0	16605	1058	37	1	1238	1	TRO	23	54950197	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1843859	54950197	100320363	315	9658										
PFKFB1	5207	genome.wustl.edu	37	chrX	54982618	54982618	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tcatccaagggttggtagttGacctcatagcactcaattct	8	10	4	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:54982618G>A	ENST00000375006.3	-	7	676	c.606C>T	c.(604-606)gtC>gtT	p.V202V	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.V137V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	202	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.V202V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTTGGTAGTTGACCTCATAGC	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											121	100	107					X																	54982618		2203	4300	6503	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.606C>T	X.37:g.54982618G>A			B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.V202	ENST00000375006.3	37	c.606	CCDS14364.1	X																																																																																			PFKFB1	-	pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.468	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	G			54982618	-1	no_errors	ENST00000375006	ensembl	human	known	70_37	silent	SNP	0.645	A	A	54982618	G	A	54982618	2	1	61	1	0	0	0	0	0	0	0	1	11784	1277	45	1		1	PFKFB1	23	54982618	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	32421	54982618	100287942	316	9659										
MAGEH1	28986	genome.wustl.edu	37	chrX	55479285	55479285	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gtagcagtccggtggagtatGagttcttctgggggccccga	16	9	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:55479285G>C	ENST00000342972.1	+	1	748	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	160	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)		p.E160Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GGTGGAGTATGAGTTCTTCTG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											91	88	89					X																	55479285		2203	4300	6503	SO:0001583	missense	28986			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.478G>C	X.37:g.55479285G>C	ENSP00000343706:p.Glu160Gln		B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E160Q	ENST00000342972.1	37	c.478	CCDS14369.1	X	.	.	.	.	.	.	.	.	.	.	.	9.205	1.029497	0.19512	.	.	ENSG00000187601	ENST00000342972	T	0.05855	3.38	3.17	1.31	0.21738	.	0.000000	0.34411	N	0.003988	T	0.09862	0.0242	L	0.37850	1.14	0.09310	N	1	P	0.44816	0.844	P	0.58620	0.842	T	0.11717	-1.0576	10	0.48119	T	0.1	-6.2854	3.4746	0.07579	0.1431:0.0:0.6103:0.2466	.	160	Q9H213	MAGH1_HUMAN	Q	160	ENSP00000343706:E160Q	ENSP00000343706:E160Q	E	+	1	0	MAGEH1	55496010	0.005000	0.15991	0.021000	0.16686	0.002000	0.02628	0.338000	0.19858	0.210000	0.20664	0.597000	0.82753	GAG	MAGEH1	-	pfam_MAGE,pfscan_MAGE		0.517	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	G	NM_014061		55479285	1	no_errors	ENST00000342972	ensembl	human	known	70_37	missense	SNP	0.020	C	C	55479285	G	C	55479285	3	2	61	1	0	0	0	0	1	0	0	0	9211	1291	45	1	480	1	MAGEH1	23	55479285	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	496667	55479285	99791275	317	9660										
MAGEE2	139599	genome.wustl.edu	37	chrX	75003459	75003459	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tactccaagactttcattttGatggtttcatggtgagctcg	9	8	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:75003459G>A	ENST00000373359.2	-	1	1620	c.1428C>T	c.(1426-1428)atC>atT	p.I476I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	476	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I476M(1)|p.I476I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCATTTTGATGGTTTCAT	0.493																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|lung(1)											95	79	84					X																	75003459		2203	4300	6503	SO:0001819	synonymous_variant	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1428C>T	X.37:g.75003459G>A			Q5JSI5	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.I476	ENST00000373359.2	37	c.1428	CCDS14431.1	X																																																																																			MAGEE2	-	pfam_MAGE,pfscan_MAGE		0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	G	NM_138703		75003459	-1	no_errors	ENST00000373359	ensembl	human	known	70_37	silent	SNP	0.998	A	A	75003459	G	A	75003459	2	1	61	1	0	0	0	0	0	0	0	1	9209	1280	45	1		1	MAGEE2	23	75003459	Silent	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	19524174	75003459	80267101	318	9661										
BRWD3	254065	genome.wustl.edu	37	chrX	79955474	79955474	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	accctgagatccattttgttCcatggctgtttttgtaaatt	7	8	0	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:79955474C>T	ENST00000373275.4	-	25	3141	c.2925G>A	c.(2923-2925)tgG>tgA	p.W975*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	975					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.W975*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCATTTTGTTCCATGGCTGTT	0.358																																																	1	Substitution - Nonsense(1)	cervix(1)											106	87	93					X																	79955474		2202	4300	6502	SO:0001587	stop_gained	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2925G>A	X.37:g.79955474C>T	ENSP00000362372:p.Trp975*		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.W975*	ENST00000373275.4	37	c.2925	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.549212	0.99425	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.3507	17.0635	0.86553	0.0:1.0:0.0:0.0	.	.	.	.	X	975	.	.	W	-	3	0	BRWD3	79842130	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.275000	0.78548	2.296000	0.77279	0.523000	0.50628	TGG	BRWD3	-	NULL		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252		79955474	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	79955474	C	T	79955474	4	4	61	1	0	0	0	0	0	1	0	0	1529	856	30	1	2551	1	BRWD3	23	79955474	Nonsense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	4952015	79955474	75315086	319	9662										
IRS4	8471	genome.wustl.edu	37	chrX	107976265	107976265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tctctcgaggctgtctgttgGaaaagcagagacagcggctc	13	10	2	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:107976265G>A	ENST00000372129.2	-	1	3386	c.3310C>T	c.(3310-3312)Cca>Tca	p.P1104S	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1104	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P1104S(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGTCTGTTGGAAAAGCAGAG	0.577																																																	1	Substitution - Missense(1)	cervix(1)											84	86	85					X																	107976265		2203	4300	6503	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3310C>T	X.37:g.107976265G>A	ENSP00000361202:p.Pro1104Ser			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1104S	ENST00000372129.2	37	c.3310	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443276	0.43429	.	.	ENSG00000133124	ENST00000372129	T	0.34472	1.36	5.55	4.67	0.58626	.	0.068223	0.56097	D	0.000025	T	0.21103	0.0508	N	0.24115	0.695	0.23751	N	0.996946	B	0.29988	0.264	B	0.28305	0.088	T	0.08046	-1.0741	10	0.36615	T	0.2	-9.2953	5.8456	0.18663	0.3096:0.0:0.6904:0.0	.	1104	O14654	IRS4_HUMAN	S	1104	ENSP00000361202:P1104S	ENSP00000361202:P1104S	P	-	1	0	IRS4	107862921	0.998000	0.40836	0.751000	0.31187	0.678000	0.39670	3.432000	0.52824	2.562000	0.86427	0.600000	0.82982	CCA	IRS4	-	NULL		0.577	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	G	NM_003604		107976265	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	missense	SNP	0.623	A	A	107976265	G	A	107976265	3	1	61	1	0	0	0	0	1	0	0	0	7862	1174	41	1	467	1	IRS4	23	107976265	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	28020791	107976265	47294295	320	9663										
STAG2	10735	genome.wustl.edu	37	chrX	123164963	123164963	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gaagttgttaaaatgggcaaGagtgctatgcaggtaagatt	13	3	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:123164963G>C	ENST00000371160.1	+	5	566	c.276G>C	c.(274-276)aaG>aaC	p.K92N	STAG2_ENST00000354548.5_Missense_Mutation_p.K23N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.K92N|STAG2_ENST00000371144.3_Missense_Mutation_p.K92N|STAG2_ENST00000218089.9_Missense_Mutation_p.K92N|STAG2_ENST00000371145.3_Missense_Mutation_p.K92N	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	92					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.K92N(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAATGGGCAAGAGTGCTATGC	0.368																																																	2	Substitution - Missense(2)	cervix(2)											268	217	234					X																	123164963		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.276G>C	X.37:g.123164963G>C	ENSP00000360202:p.Lys92Asn		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.K92N	ENST00000371160.1	37	c.276	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122415	0.77436	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	T;T;T;T;T;T;T	0.49720	1.73;0.77;1.33;1.33;1.33;1.73;1.33	5.1	4.24	0.50183	.	0.103063	0.64402	D	0.000003	T	0.60919	0.2306	M	0.62016	1.91	0.80722	D	1	D;P	0.61697	0.99;0.955	P;P	0.61800	0.894;0.694	T	0.60616	-0.7228	9	.	.	.	-23.6061	12.8985	0.58113	0.0813:0.0:0.9187:0.0	.	92;92	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	N	92;92;23;92;92;92;92;92;92;92;92	ENSP00000218089:K92N;ENSP00000397265:K92N;ENSP00000346555:K23N;ENSP00000360202:K92N;ENSP00000360199:K92N;ENSP00000360187:K92N;ENSP00000360186:K92N	.	K	+	3	2	STAG2	122992644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.326000	0.72905	1.035000	0.39972	0.594000	0.82650	AAG	STAG2	-	NULL		0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	G	NM_006603		123164963	1	no_errors	ENST00000218089	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123164963	G	C	123164963	3	2	61	1	0	0	0	0	1	0	0	0	15273	933	33	1	286	1	STAG2	23	123164963	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	15188698	123164963	32105597	321	9664										
ODZ1	10178	genome.wustl.edu	37	chrX	123695634	123695634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	cattttgatccagggtacatCgtccatttccaaagcagagc	8	11	0	2			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:123695634C>T	ENST00000371130.3	-	14	2384	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	TENM1_ENST00000422452.2_Missense_Mutation_p.R774Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	774	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R776Q(1)									CAGGGTACATCGTCCATTTCC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											177	136	150					X																	123695634		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2321G>A	X.37:g.123695634C>T	ENSP00000360171:p.Arg774Gln		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R774Q	ENST00000371130.3	37	c.2321	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673483	0.88445	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03413	3.94;3.94	5.39	5.39	0.77823	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.08670	0.0215	N	0.16266	0.395	0.80722	D	1	D;D;P	0.76494	0.999;0.997;0.771	D;P;B	0.72625	0.978;0.799;0.081	T	0.56329	-0.7997	10	0.19590	T	0.45	.	18.4118	0.90554	0.0:1.0:0.0:0.0	.	773;774;774	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	774	ENSP00000360171:R774Q;ENSP00000403954:R774Q	ENSP00000360171:R774Q	R	-	2	0	ODZ1	123523315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.376000	0.81061	0.594000	0.82650	CGA	TENM1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123695634	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	0.999	T	T	123695634	C	T	123695634	3	4	61	1	0	0	0	0	1	0	0	0	10858	884	31	1	5953	1	ODZ1	23	123695634	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	530671	123695634	31574926	322	9665										
GDI1	2664	genome.wustl.edu	37	chrX	153670074	153670074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	tgtatccttagccaccccatCaagaacaccaacgacgccaa	5	16	1	1			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:153670074C>G	ENST00000447750.2	+	8	1259	c.924C>G	c.(922-924)atC>atG	p.I308M	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	308					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.I308M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACCCCATCAAGAACACCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)											170	141	151					X																	153670074		2203	4300	6503	SO:0001583	missense	2664			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.924C>G	X.37:g.153670074C>G	ENSP00000394071:p.Ile308Met		P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.I308M	ENST00000447750.2	37	c.924	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039183	0.75617	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.61627	0.09	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.93197	3.39	0.80722	D	1	D	0.63880	0.993	D	0.77557	0.99	D	0.83770	0.0219	10	0.87932	D	0	-29.2349	9.2646	0.37634	0.0:0.9003:0.0:0.0997	.	308	P31150	GDIA_HUMAN	M	308;292	ENSP00000394071:I308M	ENSP00000358756:I292M	I	+	3	3	GDI1	153323268	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.081000	0.57627	2.272000	0.75746	0.529000	0.55759	ATC	GDI1	-	pfam_GDP_dissociation_inhibitor		0.582	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	C	NM_001493		153670074	1	no_errors	ENST00000447750	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153670074	C	G	153670074	3	3	61	1	0	0	0	0	1	0	0	0	6339	816	29	1	954	1	GDI1	23	153670074	Missense_Mutation	SNP	C	TCGA-DS-A0VM-01A-11D-A10S-08	29974440	153670074	1600486	323	9666										
IL9R	3581	genome.wustl.edu	37	chrX	155234190	155234190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552795031055901	178	1.52086943391256e-65	3.93409624254849	5.04903200588614	3.47139790076336	7.77386039964464e-06	9.42580573456913e-05	133	gccaatgaccacacttctcaGctatgagctggccttcaaga	8	13	2	3			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:155234190G>T	ENST00000244174.5	+	5	718	c.539G>T	c.(538-540)aGc>aTc	p.S180I	IL9R_ENST00000369423.2_Missense_Mutation_p.S215I|IL9R_ENST00000540897.1_Missense_Mutation_p.S205I|IL9R_ENST00000424344.3_Missense_Mutation_p.S159I	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	180	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.S180I(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACACTTCTCAGCTATGAGCTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											115	101	106					X																	155234190		2203	4296	6499	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.539G>T	X.37:g.155234190G>T	ENSP00000244174:p.Ser180Ile		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S180I	ENST00000244174.5	37	c.539	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536754	0.27475	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	1.44	-0.554	0.11811	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.770006	0.12503	N	0.463178	T	0.63343	0.2503	.	.	.	0.09310	N	1	P;P;D	0.54207	0.928;0.573;0.965	P;P;B	0.53760	0.734;0.468;0.367	T	0.52961	-0.8505	9	0.40728	T	0.16	-24.3092	2.9681	0.05913	0.2068:0.2792:0.514:0.0	.	159;180;215	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	I	180;159;159;215;205	ENSP00000244174:S180I;ENSP00000388918:S159I;ENSP00000358431:S215I;ENSP00000438112:S205I	ENSP00000244174:S180I	S	+	2	0	IL9R	154887384	1.000000	0.71417	0.446000	0.26920	0.300000	0.27592	0.913000	0.28611	-0.336000	0.08438	-1.346000	0.01242	AGC	IL9R	-	superfamily_Fibronectin_type3		0.582	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	G	NM_002186		155234190	1	no_errors	ENST00000244174	ensembl	human	known	70_37	missense	SNP	0.429	T	T	155234190	G	T	155234190	3	4	61	1	0	0	0	0	1	0	0	0	7728	971	34	4	557	4	IL9R	23	155234190	Missense_Mutation	SNP	G	TCGA-DS-A0VM-01A-11D-A10S-08	1564116	155234190	36370	324	9667										
MMEL1	79258	genome.wustl.edu	37	chr1	2537001	2537001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtgaggacccacccaccttcCggttgctgccgccgttgaag	12	15	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:2537001C>T	ENST00000378412.3	-	9	973	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	MMEL1_ENST00000288709.6_Missense_Mutation_p.R262Q|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	271						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R262Q(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACCCACCTTCCGGTTGCTGCC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											62	64	64					1																	2537001		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.812G>A	1.37:g.2537001C>T	ENSP00000367668:p.Arg271Gln		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R271Q	ENST00000378412.3	37	c.812	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216781	0.22373	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.73047	-0.71;-0.71	5.0	-1.33	0.09172	Peptidase M13 (1);	0.346287	0.33309	N	0.005052	T	0.36166	0.0957	N	0.01771	-0.73	0.21802	N	0.999535	B	0.12013	0.005	B	0.12156	0.007	T	0.30475	-0.9977	10	0.15499	T	0.54	-8.0335	9.0096	0.36133	0.0:0.3529:0.0:0.6471	.	271	Q495T6	MMEL1_HUMAN	Q	262;271	ENSP00000288709:R262Q;ENSP00000367668:R271Q	ENSP00000288709:R262Q	R	-	2	0	MMEL1	2526861	0.653000	0.27358	0.030000	0.17652	0.054000	0.15201	0.334000	0.19787	-0.568000	0.06038	-0.469000	0.05056	CGG	MMEL1	-	pfam_Peptidase_M13_N		0.647	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2537001	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	0.946	T	T	2537001	C	T	2537001	3	4	62	1	0	0	0	0	1	0	0	0	9669	652	23	2	1591	2	MMEL1	1	2537001	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		2537001	246713620	1	9668										
CLCN6	1185	genome.wustl.edu	37	chr1	11900256	11900256	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaatttctgcaggcccggctGaggcagcactaccagaccat	11	13	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:11900256G>A	ENST00000346436.6	+	23	2638	c.2586G>A	c.(2584-2586)ctG>ctA	p.L862L	NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.L840L	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	862	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.L862L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCCGGCTGAGGCAGCACT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											104	98	100					1																	11900256		2203	4300	6503	SO:0001819	synonymous_variant	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2586G>A	1.37:g.11900256G>A			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.L862	ENST00000346436.6	37	c.2586	CCDS138.1	1																																																																																			CLCN6	-	NULL		0.607	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11900256	1	no_errors	ENST00000346436	ensembl	human	known	70_37	silent	SNP	0.999	A	A	11900256	G	A	11900256	2	1	62	1	0	0	0	0	0	0	0	1	3472	1277	45	1		1	CLCN6	1	11900256	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	9363255	11900256	237350365	2	9669										
SPEN	23013	genome.wustl.edu	37	chr1	16256225	16256225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aaaaaattggcattgacatcGatcacacgcagagttaccga	8	9	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:16256225G>A	ENST00000375759.3	+	11	3694	c.3490G>A	c.(3490-3492)Gat>Aat	p.D1164N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1164					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.D1164N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATTGACATCGATCACACGCA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											52	46	48					1																	16256225		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3490G>A	1.37:g.16256225G>A	ENSP00000364912:p.Asp1164Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1164N	ENST00000375759.3	37	c.3490	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885277	0.51908	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.2	5.2	0.72013	.	.	.	.	.	T	0.32496	0.0831	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.01021	-1.1478	9	0.54805	T	0.06	-9.681	18.9154	0.92503	0.0:0.0:1.0:0.0	.	1164	Q96T58	MINT_HUMAN	N	1164	ENSP00000364912:D1164N	ENSP00000364912:D1164N	D	+	1	0	SPEN	16128812	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.439000	0.52878	2.704000	0.92352	0.650000	0.86243	GAT	SPEN	-	NULL		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256225	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16256225	G	A	16256225	3	1	62	1	0	0	0	0	1	0	0	0	15068	1058	37	1	3532	1	SPEN	1	16256225	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	4355969	16256225	232994396	3	9670										
EPHA2	1969	genome.wustl.edu	37	chr1	16474972	16474972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgcacagtgcatacggggctCttcaccccccggtggcacca	11	16	2	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:16474972C>T	ENST00000358432.5	-	3	878	c.724G>A	c.(724-726)Gag>Aag	p.E242K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	242	Cys-rich.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E242K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATACGGGGCTCTTCACCCCCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											64	60	62					1																	16474972		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.724G>A	1.37:g.16474972C>T	ENSP00000351209:p.Glu242Lys		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E242K	ENST00000358432.5	37	c.724	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.205986	0.22205	.	.	ENSG00000142627	ENST00000358432	T	0.72167	-0.63	5.14	5.14	0.70334	.	0.110201	0.40302	N	0.001125	T	0.57272	0.2042	N	0.21373	0.66	0.32858	D	0.507602	B;B	0.29936	0.262;0.0	B;B	0.20184	0.028;0.001	T	0.68116	-0.5494	10	0.56958	D	0.05	.	16.0881	0.81073	0.0:1.0:0.0:0.0	.	242;242	B5A968;P29317	.;EPHA2_HUMAN	K	242	ENSP00000351209:E242K	ENSP00000351209:E242K	E	-	1	0	EPHA2	16347559	0.000000	0.05858	0.980000	0.43619	0.216000	0.24613	1.082000	0.30803	2.393000	0.81446	0.561000	0.74099	GAG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt		0.667	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16474972	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16474972	C	T	16474972	3	4	62	1	0	0	0	0	1	0	0	0	5179	922	32	1	2266	1	EPHA2	1	16474972	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	218747	16474972	232775649	4	9671										
SERINC2	347735	genome.wustl.edu	37	chr1	31896551	31896551	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctcccgcaggcgtcctgcctCtgcggctctgccccctgcat	10	20	2	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:31896551C>T	ENST00000373709.3	+	2	201	c.51C>T	c.(49-51)ctC>ctT	p.L17L	SERINC2_ENST00000373710.1_Silent_p.L26L|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.L21L|SERINC2_ENST00000536859.1_Silent_p.L21L	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	17					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)	p.L17L(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CGTCCTGCCTCTGCGGCTCTG	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											37	36	36					1																	31896551		2203	4299	6502	SO:0001819	synonymous_variant	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.51C>T	1.37:g.31896551C>T			A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	pfam_TMS_TDE	p.L26	ENST00000373709.3	37	c.78	CCDS30662.1	1																																																																																			SERINC2	-	pfam_TMS_TDE		0.677	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	C	NM_018565		31896551	1	no_errors	ENST00000373710	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31896551	C	T	31896551	2	4	62	1	0	0	0	0	0	0	0	1	14110	900	32	1		1	SERINC2	1	31896551	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	15421579	31896551	217354070	5	9672										
EPHA10	284656	genome.wustl.edu	37	chr1	38227478	38227478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccgcgatcgtgtcgattttgCggggccggctgccgcctagg	16	13	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:38227478C>T	ENST00000373048.4	-	3	448	c.449G>A	c.(448-450)cGc>cAc	p.R150H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R150H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R150H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	150	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R150H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGATTTTGCGGGGCCGGCT	0.667																																																	2	Substitution - Missense(2)	cervix(1)|stomach(1)											28	34	32					1																	38227478		2197	4296	6493	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.449G>A	1.37:g.38227478C>T	ENSP00000362139:p.Arg150His		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R150H	ENST00000373048.4	37	c.449	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302145	0.40694	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03689	3.84;3.84;3.84	4.75	-0.744	0.11101	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.552391	0.15315	N	0.268849	T	0.07593	0.0191	L	0.45137	1.4	0.80722	D	1	B;D	0.76494	0.017;0.999	B;D	0.63033	0.008;0.91	T	0.41088	-0.9528	10	0.35671	T	0.21	.	6.552	0.22440	0.0:0.4868:0.1255:0.3877	.	150;150	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	150	ENSP00000397746:R150H;ENSP00000362139:R150H;ENSP00000316395:R150H	ENSP00000316395:R150H	R	-	2	0	EPHA10	38000065	0.913000	0.31002	0.887000	0.34795	0.778000	0.44026	0.081000	0.14823	-0.224000	0.09928	-1.020000	0.02445	CGC	EPHA10	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	C	NM_173641		38227478	-1	no_errors	ENST00000427468	ensembl	human	known	70_37	missense	SNP	0.952	T	T	38227478	C	T	38227478	3	4	62	1	0	0	0	0	1	0	0	0	5178	768	27	2	2675	2	EPHA10	1	38227478	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	6330927	38227478	211023143	6	9673										
HAX1	10456	genome.wustl.edu	37	chr1	154245822	154245822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccactctcagccacagagatCccttttttggagggatgact	9	12	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:154245822C>T	ENST00000328703.7	+	2	277	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	HAX1_ENST00000483970.2_Missense_Mutation_p.P22S|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	22	Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)	p.P22S(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGAGATCCCTTTTTTGG	0.488									Kostmann syndrome																																								2	Substitution - Missense(2)	cervix(1)|lung(1)											70	71	70					1																	154245822		2203	4300	6503	SO:0001583	missense	10456	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.64C>T	1.37:g.154245822C>T	ENSP00000329002:p.Pro22Ser		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	pirsf_HS1--assoc_X-1	p.P22S	ENST00000328703.7	37	c.64	CCDS1064.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970654	0.92919	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.44083	0.93;0.93;0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65240	-0.6216	10	0.72032	D	0.01	-13.9636	16.6434	0.85138	0.0:1.0:0.0:0.0	.	22;22	O00165-2;O00165	.;HAX1_HUMAN	S	22	ENSP00000329002:P22S;ENSP00000435088:P22S;ENSP00000394920:P22S	ENSP00000329002:P22S	P	+	1	0	HAX1	152512446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.721000	0.47260	2.776000	0.95493	0.655000	0.94253	CCC	HAX1	-	pirsf_HS1--assoc_X-1		0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	C	NM_006118		154245822	1	no_errors	ENST00000483970	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154245822	C	T	154245822	3	4	62	1	0	0	0	0	1	0	0	0	6995	855	30	1	70	1	HAX1	1	154245822	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	116018344	154245822	95004799	7	9674										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155931936	155931936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cggctgatgagtaacgggtaCttggtgatgcgctgagtcac	15	8	1	4			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:155931936C>T	ENST00000361247.4	-	10	1278	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K	ARHGEF2_ENST00000462460.2_Silent_p.K438K|ARHGEF2_ENST00000313667.4_Silent_p.K392K|ARHGEF2_ENST00000368316.1_Silent_p.K365K|ARHGEF2_ENST00000368315.4_Silent_p.K394K|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Silent_p.K365K	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	393	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K365K(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTAACGGGTACTTGGTGATGC	0.642																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - coding silent(1)	cervix(1)											74	75	75					1																	155931936		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1179G>A	1.37:g.155931936C>T			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.K394	ENST00000361247.4	37	c.1182	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.642	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	C	NM_004723		155931936	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155931936	C	T	155931936	2	4	62	1	0	0	0	0	0	0	0	1	903	564	20	4		4	ARHGEF2	1	155931936	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1686114	155931936	93318685	8	9675										
MAEL	84944	genome.wustl.edu	37	chr1	166963303	166963303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttcgatttcattgtcaggctGcaagtaagtataaaggaatg	10	5	2	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:166963303G>A	ENST00000367872.4	+	5	764	c.520G>A	c.(520-522)Gca>Aca	p.A174T	MAEL_ENST00000367870.2_Missense_Mutation_p.A143T|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	174					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.A174T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTGTCAGGCTGCAAGTAAGTA	0.323																																																	1	Substitution - Missense(1)	cervix(1)											77	79	78					1																	166963303		2203	4299	6502	SO:0001583	missense	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.520G>A	1.37:g.166963303G>A	ENSP00000356846:p.Ala174Thr		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.A174T	ENST00000367872.4	37	c.520	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935726	0.73442	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.44881	0.91;0.91;0.94	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000006	T	0.37156	0.0993	N	0.14661	0.345	0.45250	D	0.998258	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.25257	-1.0137	10	0.30854	T	0.27	.	17.1671	0.86819	0.0:0.0:1.0:0.0	.	143;174	E9JVC3;Q96JY0	.;MAEL_HUMAN	T	174;143;143	ENSP00000356846:A174T;ENSP00000356844:A143T;ENSP00000402143:A143T	ENSP00000356844:A143T	A	+	1	0	MAEL	165229927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.950000	0.70265	2.580000	0.87095	0.591000	0.81541	GCA	MAEL	-	superfamily_CH-domain		0.323	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	G	NM_032858		166963303	1	no_errors	ENST00000367872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166963303	G	A	166963303	3	1	62	1	0	0	0	0	1	0	0	0	9177	1319	46	4	538	4	MAEL	1	166963303	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	11031367	166963303	82287318	9	9676										
ADCY10	55811	genome.wustl.edu	37	chr1	167852753	167852753	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atgtgcatataggcatcctgGatggctgggcctatctcttc	11	10	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:167852753G>A	ENST00000367851.4	-	9	1126	c.942C>T	c.(940-942)atC>atT	p.I314I	ADCY10_ENST00000367848.1_Silent_p.I222I|ADCY10_ENST00000545172.1_Silent_p.I161I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	314	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.I314I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGCATCCTGGATGGCTGGGC	0.448																																																	1	Substitution - coding silent(1)	cervix(1)											208	183	191					1																	167852753		2203	4300	6503	SO:0001819	synonymous_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.942C>T	1.37:g.167852753G>A			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.I314	ENST00000367851.4	37	c.942	CCDS1265.1	1																																																																																			ADCY10	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10		0.448	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167852753	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	silent	SNP	1.000	A	A	167852753	G	A	167852753	2	1	62	1	0	0	0	0	0	0	0	1	293	1164	41	1		1	ADCY10	1	167852753	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	889450	167852753	81397868	10	9677										
RALGPS2	55103	genome.wustl.edu	37	chr1	178846666	178846666	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agatttaacatacatcgattCagcatacccatcaactggca	5	11	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:178846666C>T	ENST00000367635.3	+	9	979	c.641C>T	c.(640-642)tCa>tTa	p.S214L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S214L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	214	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S214L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TACATCGATTCAGCATACCCA	0.323																																																	1	Substitution - Missense(1)	cervix(1)											88	89	88					1																	178846666		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.641C>T	1.37:g.178846666C>T	ENSP00000356607:p.Ser214Leu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.S214L	ENST00000367635.3	37	c.641	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300839	0.60195	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.29917	1.55;1.55;1.55	5.86	5.86	0.93980	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	N	0.21448	0.665	0.80722	D	1	B;B	0.22746	0.012;0.074	B;B	0.25291	0.018;0.059	T	0.05257	-1.0896	10	0.19590	T	0.45	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	214;214	B7Z7B1;Q86X27	.;RGPS2_HUMAN	L	214;214;179	ENSP00000356607:S214L;ENSP00000356606:S214L;ENSP00000313613:S179L	ENSP00000313613:S179L	S	+	2	0	RALGPS2	177113289	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.734000	0.84928	2.770000	0.95276	0.655000	0.94253	TCA	RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.323	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	C	NM_152663		178846666	1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178846666	C	T	178846666	3	4	62	1	0	0	0	0	1	0	0	0	13048	838	29	1	671	1	RALGPS2	1	178846666	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	10993913	178846666	70403955	11	9678										
CRB1	23418	genome.wustl.edu	37	chr1	197390187	197390187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aaacccttgccaaaatggtgGtacttgtgagaacttgcctg	10	9	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:197390187G>A	ENST00000367400.3	+	6	1364	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	CRB1_ENST00000543483.1_Missense_Mutation_p.G109D|CRB1_ENST00000535699.1_Missense_Mutation_p.G341D|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.G410D|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.G298D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	410	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G410D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAAATGGTGGTACTTGTGAG	0.368																																																	1	Substitution - Missense(1)	cervix(1)											152	138	143					1																	197390187		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1229G>A	1.37:g.197390187G>A	ENSP00000356370:p.Gly410Asp		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G410D	ENST00000367400.3	37	c.1229	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319505	0.81469	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.57	5.57	0.84162	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98934	0.9638	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0	D	0.99501	1.0953	9	0.87932	D	0	.	19.5429	0.95281	0.0:0.0:1.0:0.0	.	410;341;298;59;410	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	D	341;410;410;298;109;59	ENSP00000438786:G341D;ENSP00000438091:G410D;ENSP00000356370:G410D;ENSP00000356369:G298D;ENSP00000439579:G109D	ENSP00000356369:G298D	G	+	2	0	CRB1	195656810	1.000000	0.71417	0.941000	0.38009	0.929000	0.56500	5.941000	0.70195	2.607000	0.88179	0.585000	0.79938	GGT	CRB1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.368	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	G	NM_201253		197390187	1	no_errors	ENST00000367400	ensembl	human	known	70_37	missense	SNP	0.998	A	A	197390187	G	A	197390187	3	1	62	1	0	0	0	0	1	0	0	0	3853	1261	44	4	1251	4	CRB1	1	197390187	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	18543521	197390187	51860434	12	9679										
COG2	22796	genome.wustl.edu	37	chr1	230804495	230804495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tacagtttcatgctgttcaaAgcaaaggcatgcctcttttg	8	9	3	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr1:230804495A>G	ENST00000366669.4	+	6	674	c.559A>G	c.(559-561)Agc>Ggc	p.S187G	COG2_ENST00000534989.1_Missense_Mutation_p.S128G|COG2_ENST00000535166.1_Missense_Mutation_p.S71G|COG2_ENST00000366668.3_Missense_Mutation_p.S187G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	187					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.S187G(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGCTGTTCAAAGCAAAGGCAT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											156	149	151					1																	230804495		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.559A>G	1.37:g.230804495A>G	ENSP00000355629:p.Ser187Gly		Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.S187G	ENST00000366669.4	37	c.559	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.961696	0.92791	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.58101	1.795	0.80722	D	1	P;B	0.41188	0.741;0.151	B;B	0.34242	0.178;0.032	T	0.07868	-1.0750	10	0.17832	T	0.49	-17.3432	15.2399	0.73461	1.0:0.0:0.0:0.0	.	187;187	Q86U99;Q14746	.;COG2_HUMAN	G	187;71;187;128	ENSP00000355629:S187G;ENSP00000445724:S71G;ENSP00000355628:S187G;ENSP00000440349:S128G	ENSP00000355628:S187G	S	+	1	0	COG2	228871118	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.920000	0.92779	2.071000	0.62044	0.533000	0.62120	AGC	COG2	-	NULL		0.378	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	A	NM_007357		230804495	1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	1.000	G	G	230804495	A	G	230804495	3	3	62	1	0	0	0	0	1	0	0	0	3663	72	3	5	581	5	COG2	1	230804495	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	33414308	230804495	18446126	13	9680										
AGBL5	60509	genome.wustl.edu	37	chr2	27276285	27276285	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctcaggtcatggttctacttCagcgtccggggaggaatgcc	13	11	4	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:27276285C>T	ENST00000360131.4	+	3	390	c.231C>T	c.(229-231)ttC>ttT	p.F77F	AGBL5_ENST00000323064.8_Silent_p.F77F|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	77					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.F77F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTCTACTTCAGCGTCCGGG	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											109	100	103					2																	27276285		2203	4300	6503	SO:0001819	synonymous_variant	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.231C>T	2.37:g.27276285C>T			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.F77	ENST00000360131.4	37	c.231	CCDS1732.3	2																																																																																			AGBL5	-	NULL		0.522	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	C	NM_021831		27276285	1	no_errors	ENST00000360131	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27276285	C	T	27276285	2	4	62	1	0	0	0	0	0	0	0	1	378	825	29	1		1	AGBL5	2	27276285	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		27276285	215923088	14	9681										
VIT	5212	genome.wustl.edu	37	chr2	36986238	36986238	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	accttctgagtccatgaacaCgcgacgtgttttgggagata	11	9	1	3	rs61745550		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:36986238C>T	ENST00000389975.3	+	6	789				VIT_ENST00000497382.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000401530.1_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.T179M|VIT_ENST00000404084.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCATGAACACGCGACGTGTT	0.473																																																	0								C	,,,MET/THR,	0,4406		0,0,2203	81	79	80		,,,536,	-9	0	2	dbSNP_129	80	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense,intron	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	,,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,,179/204,	36986238	1,13005	2203	4300	6503	SO:0001627	intron_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+49C>T	2.37:g.36986238C>T			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.T179M	ENST00000389975.3	37	c.536	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	0.694	-0.793228	0.02862	0.0	1.16E-4	ENSG00000205221	ENST00000457137	D	0.90955	-2.76	4.76	-8.99	0.00751	.	.	.	.	.	T	0.75191	0.3816	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.61028	-0.7145	7	.	.	.	.	2.598	0.04859	0.1019:0.172:0.3305:0.3957	rs61745550	179	Q6UXI7-3	.	M	179	ENSP00000393561:T179M	.	T	+	2	0	VIT	36839742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.208000	0.00557	-1.426000	0.01994	-0.519000	0.04390	ACG	VIT	-	NULL		0.473	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		C			36986238	1	no_errors	ENST00000457137	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36986238	C	T	36986238	1	4	62	0	1	0	0	0	0	0	0	0	17202	536	19	2		2	VIT	2	36986238	Intron	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	9709953	36986238	206213135	15	9682										
ZC3H8	84524	genome.wustl.edu	37	chr2	112995977	112995977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tctctggcttgtatgtactgTtgaagctctttggcaaaatt	9	7	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:112995977T>C	ENST00000409573.2	-	3	414	c.285A>G	c.(283-285)caA>caG	p.Q95Q	ZC3H8_ENST00000272570.5_Silent_p.Q95Q			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	95					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q95Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GTATGTACTGTTGAAGCTCTT	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											182	169	173					2																	112995977		1851	4104	5955	SO:0001819	synonymous_variant	84524			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.285A>G	2.37:g.112995977T>C			Q9BZ75	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.Q95	ENST00000409573.2	37	c.285	CCDS46392.1	2																																																																																			ZC3H8	-	NULL		0.378	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	HGNC	protein_coding	OTTHUMT00000330521.3	T	NM_032494		112995977	-1	no_errors	ENST00000272570	ensembl	human	known	70_37	silent	SNP	0.524	C	C	112995977	T	C	112995977	2	2	62	1	0	0	0	0	0	0	0	1	17604	1722	60	5		5	ZC3H8	2	112995977	Silent	SNP	T	TCGA-DS-A0VN-01A-21D-A10S-08	76009739	112995977	130203396	16	9683										
CKAP2L	150468	genome.wustl.edu	37	chr2	113496492	113496492	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttcttccacttctaacagttCatcaagagaagccactacta	4	12	4	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:113496492C>T	ENST00000302450.6	-	9	2224	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	CKAP2L_ENST00000541405.1_Missense_Mutation_p.E551K|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	716						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E716K(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAACAGTTCATCAAGAGAA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											133	138	136					2																	113496492		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.2146G>A	2.37:g.113496492C>T	ENSP00000305204:p.Glu716Lys		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.E716K	ENST00000302450.6	37	c.2146	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.150752	0.94645	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.23348	1.91;1.91	5.45	5.45	0.79879	.	0.269079	0.40640	N	0.001055	T	0.49915	0.1585	M	0.68317	2.08	0.38219	D	0.940694	D;D	0.76494	0.971;0.999	P;D	0.68943	0.783;0.961	T	0.51356	-0.8716	10	0.66056	D	0.02	-18.6918	17.5912	0.87997	0.0:1.0:0.0:0.0	.	305;716	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	K	551;716	ENSP00000438763:E551K;ENSP00000305204:E716K	ENSP00000305204:E716K	E	-	1	0	CKAP2L	113212963	0.983000	0.35010	0.160000	0.22671	0.951000	0.60555	3.073000	0.50057	2.941000	0.99782	0.655000	0.94253	GAA	CKAP2L	-	NULL		0.438	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	C	NM_152515		113496492	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	missense	SNP	0.741	T	T	113496492	C	T	113496492	3	4	62	1	0	0	0	0	1	0	0	0	3448	835	29	1	95	1	CKAP2L	2	113496492	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	500515	113496492	129702881	17	9684										
TFCP2L1	29842	genome.wustl.edu	37	chr2	121995282	121995282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	catcctggatcgaagctgatGggagcaggtgctgtgagcag	16	8	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:121995282G>A	ENST00000263707.5	-	10	1017	c.920C>T	c.(919-921)cCa>cTa	p.P307L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	307					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P307L(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CGAAGCTGATGGGAGCAGGTG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											87	87	87					2																	121995282		2203	4300	6503	SO:0001583	missense	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.920C>T	2.37:g.121995282G>A	ENSP00000263707:p.Pro307Leu		Q4ZG43	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.P307L	ENST00000263707.5	37	c.920	CCDS2134.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.235040	0.95207	.	.	ENSG00000115112	ENST00000263707	T	0.22134	1.97	5.69	5.69	0.88448	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	M	0.84683	2.71	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	T	0.57711	-0.7764	10	0.72032	D	0.01	.	19.819	0.96583	0.0:0.0:1.0:0.0	.	307	Q9NZI6	TF2L1_HUMAN	L	307	ENSP00000263707:P307L	ENSP00000263707:P307L	P	-	2	0	TFCP2L1	121711752	1.000000	0.71417	0.976000	0.42696	0.850000	0.48378	6.474000	0.73578	2.691000	0.91804	0.655000	0.94253	CCA	TFCP2L1	-	superfamily_SAM/pointed		0.602	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1	G	NM_014553		121995282	-1	no_errors	ENST00000263707	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121995282	G	A	121995282	3	1	62	1	0	0	0	0	1	0	0	0	15826	1348	47	4	543	4	TFCP2L1	2	121995282	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	8498790	121995282	121204091	18	9685										
UBR3	130507	genome.wustl.edu	37	chr2	170930076	170930076	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttataactcagtggtgttttGagataaaatcatttactgaa	7	4	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:170930076G>A	ENST00000272793.5	+	36	5208	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	UBR3_ENST00000392631.1_Missense_Mutation_p.E541K|UBR3_ENST00000418381.1_Missense_Mutation_p.E1720K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1720					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1720K(1)|p.E573K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGGTGTTTTGAGATAAAATC	0.388																																																	2	Substitution - Missense(2)	cervix(2)											109	106	107					2																	170930076		2203	4299	6502	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5158G>A	2.37:g.170930076G>A	ENSP00000272793:p.Glu1720Lys		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E1720K	ENST00000272793.5	37	c.5158		2	.	.	.	.	.	.	.	.	.	.	G	34	5.360289	0.95877	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.64997	1.995	0.52501	D	0.999953	D;D;D	0.71674	0.997;0.998;0.993	D;D;D	0.78314	0.98;0.991;0.971	T	0.54139	-0.8338	10	0.23302	T	0.38	.	19.5612	0.95373	0.0:0.0:1.0:0.0	.	1720;541;1749	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	K	1720;1749;1720;541;420	ENSP00000272793:E1720K;ENSP00000396068:E1720K;ENSP00000376408:E541K;ENSP00000389097:E420K	ENSP00000272793:E1720K	E	+	1	0	UBR3	170638322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.923000	0.92808	2.687000	0.91594	0.655000	0.94253	GAG	UBR3	-	NULL		0.388	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	G	NM_172070		170930076	1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170930076	G	A	170930076	3	1	62	1	0	0	0	0	1	0	0	0	16934	1291	45	1	5300	1	UBR3	2	170930076	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	48934794	170930076	72269297	19	9686										
INO80D	54891	genome.wustl.edu	37	chr2	206882465	206882465	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	taatgtcaaaaactggcacaGagcactgctgtccatctgca	8	11	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:206882465G>T	ENST00000403263.1	-	8	1885	c.1481C>A	c.(1480-1482)tCt>tAt	p.S494Y		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	494					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S389Y(1)|p.S494Y(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AACTGGCACAGAGCACTGCTG	0.413																																																	2	Substitution - Missense(2)	cervix(2)											105	107	106					2																	206882465		1893	4136	6029	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1481C>A	2.37:g.206882465G>T	ENSP00000384198:p.Ser494Tyr		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.S494Y	ENST00000403263.1	37	c.1481	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679951	0.88542	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.47869	0.83;0.83	5.3	4.39	0.52855	.	0.106892	0.64402	D	0.000003	T	0.59252	0.2180	M	0.65975	2.015	0.54753	D	0.999987	P	0.46142	0.873	P	0.51777	0.679	T	0.65022	-0.6269	10	0.72032	D	0.01	.	15.996	0.80243	0.0:0.1343:0.8657:0.0	.	494	Q53TQ3-2	.	Y	494;494;389	ENSP00000384198:S494Y;ENSP00000402369:S389Y	ENSP00000233270:S494Y	S	-	2	0	INO80D	206590710	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	7.821000	0.86641	2.478000	0.83669	0.655000	0.94253	TCT	INO80D	-	NULL		0.413	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	G	NM_017759		206882465	-1	no_errors	ENST00000403263	ensembl	human	known	70_37	missense	SNP	1.000	T	T	206882465	G	T	206882465	3	4	62	1	0	0	0	0	1	0	0	0	7769	942	33	3	1618	3	INO80D	2	206882465	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	35952389	206882465	36316908	20	9687										
MOGAT1	116255	genome.wustl.edu	37	chr2	223553201	223553201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atccagctggatcaaaaattGgactctttggaaacacttta	7	8	2	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr2:223553201G>T	ENST00000446656.3	+	2	233	c.233G>T	c.(232-234)tGg>tTg	p.W78L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	78					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.W78L(1)|p.W77L(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		ATCAAAAATTGGACTCTTTGG	0.368																																					Ovarian(93;205 1446 2385 11581 25911)												2	Substitution - Missense(2)	cervix(2)											128	115	119					2																	223553201		1864	4111	5975	SO:0001583	missense	116255			AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"diacylglycerol O-acyltransferase 2 like 1"	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.233G>T	2.37:g.223553201G>T	ENSP00000406674:p.Trp78Leu		Q6IEE5	Missense_Mutation	SNP	pfam_DAGAT	p.W78L	ENST00000446656.3	37	c.233	CCDS46524.1	2	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368842	0.42003	.	.	ENSG00000124003	ENST00000446656	T	0.12879	2.64	4.82	3.9	0.45041	.	0.284072	0.31323	N	0.007854	T	0.12561	0.0305	L	0.45285	1.41	0.32143	N	0.585269	B	0.17667	0.023	B	0.22880	0.042	T	0.11446	-1.0587	10	0.10902	T	0.67	-4.6333	14.4416	0.67321	0.0:0.0:0.8515:0.1485	.	78	Q96PD6	MOGT1_HUMAN	L	78	ENSP00000406674:W78L	ENSP00000406674:W78L	W	+	2	0	MOGAT1	223261445	1.000000	0.71417	0.154000	0.22540	0.602000	0.36980	4.193000	0.58385	1.320000	0.45209	0.655000	0.94253	TGG	MOGAT1	-	pfam_DAGAT		0.368	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT1	HGNC	protein_coding	OTTHUMT00000331010.3	G	NM_058165		223553201	1	no_errors	ENST00000446656	ensembl	human	known	70_37	missense	SNP	0.646	T	T	223553201	G	T	223553201	3	4	62	1	0	0	0	0	1	0	0	0	9717	1357	47	4	239	4	MOGAT1	2	223553201	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	16670736	223553201	19646172	21	9688										
TMEM43	79188	genome.wustl.edu	37	chr3	14170936	14170936	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccagtaccagtacccggagaGaacatgtcaaagttaaaacc	8	11	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:14170936G>A	ENST00000306077.4	+	2	291	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	13					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E13K(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TACCCGGAGAGAACATGTCAA	0.423																																																	1	Substitution - Missense(1)	cervix(1)											83	84	83					3																	14170936		2203	4300	6503	SO:0001583	missense	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.37G>A	3.37:g.14170936G>A	ENSP00000303992:p.Glu13Lys		Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	pfam_TMEM43_fam	p.E13K	ENST00000306077.4	37	c.37	CCDS2618.1	3	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090956	0.36855	.	.	ENSG00000170876	ENST00000306077	T	0.37411	1.2	4.74	4.74	0.60224	.	0.183525	0.47093	D	0.000251	T	0.27900	0.0687	N	0.22421	0.69	0.41802	D	0.989923	B	0.06786	0.001	B	0.04013	0.001	T	0.04991	-1.0913	10	0.40728	T	0.16	-6.7534	16.8791	0.86059	0.0:0.0:1.0:0.0	.	13	Q9BTV4	TMM43_HUMAN	K	13	ENSP00000303992:E13K	ENSP00000303992:E13K	E	+	1	0	TMEM43	14145937	1.000000	0.71417	0.870000	0.34147	0.346000	0.29079	6.753000	0.74904	2.341000	0.79615	0.591000	0.81541	GAA	TMEM43	-	NULL		0.423	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2	G	NM_024334		14170936	1	no_errors	ENST00000306077	ensembl	human	known	70_37	missense	SNP	0.995	A	A	14170936	G	A	14170936	3	1	62	1	0	0	0	0	1	0	0	0	16197	943	33	1	43	1	TMEM43	3	14170936	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		14170936	183851494	22	9689										
TMEM43	79188	genome.wustl.edu	37	chr3	14170986	14170986	+	Silent	SNP	G	G	A													0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccaggcttcctggaacggctGagcgagacctcgggtgggat							TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:14170986G>A	ENST00000306077.4	+	2	341	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	29					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L29L(2)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGGAACGGCTGAGCGAGACCT	0.493																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											103	101	101					3																	14170986		2203	4300	6503	SO:0001819	synonymous_variant	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.87G>A	3.37:g.14170986G>A			Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Silent	SNP	pfam_TMEM43_fam	p.L29	ENST00000306077.4	37	c.87	CCDS2618.1	3																																																																																			TMEM43	-	NULL		0.493	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2	G	NM_024334		14170986	1	no_errors	ENST00000306077	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14170986	G	A	14170986	2	1	62	1	0	0	0	0	0	0	0	1	16197	1277	45	1		1	TMEM43	3	14170986	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	50	14170986	183851444	23	9690	49	2								
TMEM43	79188	genome.wustl.edu	37	chr3	14170992	14170992	+	Silent	SNP	G	G	A													0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttcctggaacggctgagcgaGacctcgggtgggatgtttgt							TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:14170992G>A	ENST00000306077.4	+	2	347	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	31					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E31E(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GGCTGAGCGAGACCTCGGGTG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											109	105	106					3																	14170992		2203	4300	6503	SO:0001819	synonymous_variant	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.93G>A	3.37:g.14170992G>A			Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Silent	SNP	pfam_TMEM43_fam	p.E31	ENST00000306077.4	37	c.93	CCDS2618.1	3																																																																																			TMEM43	-	NULL		0.498	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2	G	NM_024334		14170992	1	no_errors	ENST00000306077	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14170992	G	A	14170992	2	1	62	1	0	0	0	0	0	0	0	1	16197	933	33	1		1	TMEM43	3	14170992	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	6	14170992	183851438	24	9691	49	2								
DOCK3	1795	genome.wustl.edu	37	chr3	50816135	50816135	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gctttcgaggatctgtccctCaagggttggtcttagaaata	11	8	3	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:50816135C>G	ENST00000266037.9	+	2	90	c.67C>G	c.(67-69)Caa>Gaa	p.Q23E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	23	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q12E(1)|p.Q23E(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATCTGTCCCTCAAGGGTTGGT	0.383																																																	2	Substitution - Missense(2)	cervix(2)											135	117	123					3																	50816135		1849	4090	5939	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.67C>G	3.37:g.50816135C>G	ENSP00000266037:p.Gln23Glu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.Q23E	ENST00000266037.9	37	c.67	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	N	19.16	3.773113	0.69992	.	.	ENSG00000088538	ENST00000266037	T	0.06768	3.26	5.4	5.4	0.78164	Src homology-3 domain (3);Variant SH3 (1);	0.179734	0.37623	N	0.002011	T	0.11067	0.0270	N	0.11313	0.125	0.43403	D	0.995531	P	0.42620	0.785	P	0.53988	0.739	T	0.40232	-0.9574	10	0.33940	T	0.23	.	16.458	0.84029	0.0:1.0:0.0:0.0	.	23	Q8IZD9	DOCK3_HUMAN	E	23	ENSP00000266037:Q23E	ENSP00000266037:Q23E	Q	+	1	0	DOCK3	50791139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.104000	0.64584	2.692000	0.91855	0.655000	0.94253	CAA	DOCK3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.383	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	C	NM_004947		50816135	1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50816135	C	G	50816135	3	3	62	1	0	0	0	0	1	0	0	0	4698	827	29	1	73	1	DOCK3	3	50816135	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	36645143	50816135	147206295	25	9692										
CNTN3	5067	genome.wustl.edu	37	chr3	74535723	74535723	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	taataaccacaagatttcctCcattcaacttataacgatgt	3	10	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:74535723C>G	ENST00000263665.6	-	3	269	c.242G>C	c.(241-243)gGa>gCa	p.G81A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	81	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G81A(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGATTTCCTCCATTCAACTT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											128	125	126					3																	74535723		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.242G>C	3.37:g.74535723C>G	ENSP00000263665:p.Gly81Ala		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G81A	ENST00000263665.6	37	c.242	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655963	0.67586	.	.	ENSG00000113805	ENST00000263665	T	0.51574	0.7	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061219	0.64402	D	0.000004	T	0.60025	0.2237	L	0.56199	1.76	0.48452	D	0.999651	P	0.42456	0.78	P	0.53313	0.723	T	0.56703	-0.7935	10	0.49607	T	0.09	.	17.6078	0.88044	0.0:1.0:0.0:0.0	.	81	Q9P232	CNTN3_HUMAN	A	81	ENSP00000263665:G81A	ENSP00000263665:G81A	G	-	2	0	CNTN3	74618413	0.555000	0.26530	0.855000	0.33649	0.847000	0.48162	0.220000	0.17660	2.763000	0.94921	0.585000	0.79938	GGA	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.373	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	C	NM_020872		74535723	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74535723	C	G	74535723	3	3	62	1	0	0	0	0	1	0	0	0	3647	855	30	1	2924	1	CNTN3	3	74535723	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	23719588	74535723	123486707	26	9693										
TIGIT	201633	genome.wustl.edu	37	chr3	114014436	114014436	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	caacggggaacatttctgcaGagaaaggtggctctatcatc	11	9	3	1	rs142063959		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:114014436G>A	ENST00000486257.1	+	3	363	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TIGIT_ENST00000383671.3_Missense_Mutation_p.E36K|TIGIT_ENST00000481065.1_Missense_Mutation_p.E103K			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	36	Homodimerization.|Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E36K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CATTTCTGCAGAGAAAGGTGG	0.527																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU	0,4406		0,0,2203	156	156	156		106	-1	1	3	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	no	missense	TIGIT	NM_173799.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	36/245	114014436	2,13004	2203	4300	6503	SO:0001583	missense	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.106G>A	3.37:g.114014436G>A	ENSP00000419085:p.Glu36Lys		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.E36K	ENST00000486257.1	37	c.106	CCDS2980.1	3	.	.	.	.	.	.	.	.	.	.	G	0.812	-0.751519	0.03041	0.0	2.33E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	4.45	-1.01	0.10169	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.912644	0.09269	N	0.825389	T	0.38612	0.1047	N	0.14661	0.345	0.23795	N	0.996827	B	0.06786	0.001	B	0.06405	0.002	T	0.17410	-1.0370	10	0.26408	T	0.33	-3.954	5.6837	0.17790	0.2604:0.2629:0.4767:0.0	.	36	Q495A1	TIGIT_HUMAN	K	15;103;36;36;15	ENSP00000418917:E15K;ENSP00000420552:E103K;ENSP00000419085:E36K;ENSP00000373167:E36K;ENSP00000419706:E15K	ENSP00000373167:E36K	E	+	1	0	TIGIT	115497126	0.923000	0.31300	0.963000	0.40424	0.141000	0.21300	0.294000	0.19047	-0.231000	0.09825	-1.134000	0.01955	GAG	TIGIT	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.527	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	G	NM_173799		114014436	1	no_errors	ENST00000383671	ensembl	human	known	70_37	missense	SNP	0.755	A	A	114014436	G	A	114014436	3	1	62	1	0	0	0	0	1	0	0	0	15932	943	33	1	112	1	TIGIT	3	114014436	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	39478713	114014436	84007994	27	9694										
HGD	3081	genome.wustl.edu	37	chr3	120363243	120363243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tacttggcgatcctcataccAggcaatgggtatcaagaaat	9	9	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:120363243A>G	ENST00000283871.5	-	10	1156	c.697T>C	c.(697-699)Tgg>Cgg	p.W233R		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	233					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.W233R(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCCTCATACCAGGCAATGGGT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											103	101	102					3																	120363243		2203	4296	6499	SO:0001583	missense	3081				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.697T>C	3.37:g.120363243A>G	ENSP00000283871:p.Trp233Arg		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.W233R	ENST00000283871.5	37	c.697	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125591	0.37533	.	.	ENSG00000113924	ENST00000283871	D	0.98762	-5.12	6.06	6.06	0.98353	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.64567	1.98	0.80722	D	1	P	0.44986	0.847	B	0.41466	0.358	D	0.97092	0.9791	10	0.25106	T	0.35	-0.0624	15.4333	0.75121	1.0:0.0:0.0:0.0	.	233	Q93099	HGD_HUMAN	R	233	ENSP00000283871:W233R	ENSP00000283871:W233R	W	-	1	0	HGD	121845933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.423000	0.90264	2.324000	0.78689	0.533000	0.62120	TGG	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase		0.448	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	A			120363243	-1	no_errors	ENST00000283871	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120363243	A	G	120363243	3	3	62	1	0	0	0	0	1	0	0	0	7104	188	7	5	660	5	HGD	3	120363243	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	6348807	120363243	77659187	28	9695										
IQCB1	9657	genome.wustl.edu	37	chr3	121527805	121527805	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gcctcccaaaagccagaagaGagaatcagtcacaatttgga	9	10	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:121527805G>A	ENST00000310864.6	-	6	659	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F	IQCB1_ENST00000349820.6_Missense_Mutation_p.L149F	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	149					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.L149F(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AGCCAGAAGAGAGAATCAGTC	0.323																																																	1	Substitution - Missense(1)	cervix(1)											60	68	66					3																	121527805		2203	4299	6502	SO:0001583	missense	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.445C>T	3.37:g.121527805G>A	ENSP00000311505:p.Leu149Phe		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L149F	ENST00000310864.6	37	c.445	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655163	0.67472	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.09817	2.94;2.94	5.54	3.73	0.42828	.	0.355034	0.29293	N	0.012562	T	0.14743	0.0356	N	0.14661	0.345	0.24603	N	0.993769	D;B	0.65815	0.995;0.004	D;B	0.72982	0.979;0.018	T	0.02821	-1.1106	10	0.72032	D	0.01	-2.4745	8.3747	0.32436	0.1783:0.0:0.8217:0.0	.	149;149	Q15051;Q15051-2	IQCB1_HUMAN;.	F	149	ENSP00000311505:L149F;ENSP00000323756:L149F	ENSP00000311505:L149F	L	-	1	0	IQCB1	123010495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.041000	0.30291	1.587000	0.49959	0.650000	0.86243	CTC	IQCB1	-	NULL		0.323	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	G	NM_014642		121527805	-1	no_errors	ENST00000310864	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121527805	G	A	121527805	3	1	62	1	0	0	0	0	1	0	0	0	7823	942	33	1	1391	1	IQCB1	3	121527805	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	1164562	121527805	76494625	29	9696										
NCK1	4690	genome.wustl.edu	37	chr3	136664454	136664454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aagtgaaaagaaaacctagtGtgccagattctgcatctcct	8	9	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:136664454G>A	ENST00000481752.1	+	3	420	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	NCK1_ENST00000288986.2_Missense_Mutation_p.V86M|NCK1_ENST00000469404.1_Missense_Mutation_p.V22M			P16333	NCK1_HUMAN	NCK adaptor protein 1	86					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)	p.V86M(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AAAACCTAGTGTGCCAGATTC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											62	66	64					3																	136664454		2203	4300	6503	SO:0001583	missense	4690			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.256G>A	3.37:g.136664454G>A	ENSP00000417273:p.Val86Met		B7Z751|D3DNE3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.V86M	ENST00000481752.1	37	c.256	CCDS3092.1	3	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970627	0.53614	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	T;T;T;T;T;T;T	0.68181	-0.28;-0.28;1.5;1.51;2.19;-0.31;2.19	6.16	6.16	0.99307	Src homology-3 domain (1);	0.104877	0.64402	D	0.000008	T	0.50599	0.1625	N	0.17082	0.46	0.35951	D	0.833928	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.002	T	0.54430	-0.8295	10	0.46703	T	0.11	-5.0334	11.5872	0.50925	0.0798:0.0:0.9202:0.0	.	22;86	B7Z751;P16333	.;NCK1_HUMAN	M	86;86;86;86;86;22;22	ENSP00000288986:V86M;ENSP00000417273:V86M;ENSP00000419302:V86M;ENSP00000419677:V86M;ENSP00000417729:V86M;ENSP00000419631:V22M;ENSP00000418060:V22M	ENSP00000288986:V86M	V	+	1	0	NCK1	138147144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.143000	0.64826	2.937000	0.99478	0.650000	0.86243	GTG	NCK1	-	superfamily_SH3_domain,pirsf_Cytoplasmic_NCK		0.383	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	G	NM_006153		136664454	1	no_errors	ENST00000288986	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136664454	G	A	136664454	3	1	62	1	0	0	0	0	1	0	0	0	10243	1377	48	4	262	4	NCK1	3	136664454	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	15136649	136664454	61357976	30	9697										
TSC22D2	9819	genome.wustl.edu	37	chr3	150127938	150127938	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cccactccggcccagccgcaGagttttagcgttgggcagcc	12	16	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:150127938G>A	ENST00000361875.3	+	1	1817	c.801G>A	c.(799-801)caG>caA	p.Q267Q	TSC22D2_ENST00000361136.2_Silent_p.Q267Q	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	267					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q267Q(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCAGCCGCAGAGTTTTAGCG	0.697																																																	1	Substitution - coding silent(1)	cervix(1)											7	10	9					3																	150127938		1857	3745	5602	SO:0001819	synonymous_variant	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.801G>A	3.37:g.150127938G>A			D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	pfam_TSC-22_Dip_Bun	p.Q267	ENST00000361875.3	37	c.801	CCDS3149.1	3																																																																																			TSC22D2	-	NULL		0.697	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	G	NM_014779		150127938	1	no_errors	ENST00000361875	ensembl	human	known	70_37	silent	SNP	0.018	A	A	150127938	G	A	150127938	2	1	62	1	0	0	0	0	0	0	0	1	16639	933	33	1		1	TSC22D2	3	150127938	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	13463484	150127938	47894492	31	9698										
IQCG	84223	genome.wustl.edu	37	chr3	197616500	197616500	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgcctttacctttgccttttGaatccttgctatcaactttg	5	11	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr3:197616500G>C	ENST00000265239.6	-	12	1707	c.1283C>G	c.(1282-1284)tCa>tGa	p.S428*	IQCG_ENST00000455191.1_Nonsense_Mutation_p.S428*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	428						extracellular vesicular exosome (GO:0070062)		p.S428*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTTGCCTTTTGAATCCTTGCT	0.458																																																	1	Substitution - Nonsense(1)	cervix(1)											310	275	287					3																	197616500		2203	4300	6503	SO:0001587	stop_gained	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1283C>G	3.37:g.197616500G>C	ENSP00000265239:p.Ser428*		Q9BST2|Q9HAG8	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.S428*	ENST00000265239.6	37	c.1283	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035783	0.93630	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	.	.	.	5.21	2.47	0.30058	.	1.778200	0.02762	N	0.118717	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	3.7125	6.5284	0.22314	0.2078:0.0:0.6638:0.1284	.	.	.	.	X	428	.	ENSP00000265239:S428X	S	-	2	0	IQCG	199100897	0.237000	0.23815	0.005000	0.12908	0.501000	0.33797	1.907000	0.39897	0.464000	0.27142	0.650000	0.86243	TCA	IQCG	-	NULL		0.458	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	G	NM_032263		197616500	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	nonsense	SNP	0.002	C	C	197616500	G	C	197616500	4	2	62	1	0	0	0	0	0	1	0	0	7830	1294	45	1	52	1	IQCG	3	197616500	Nonsense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	47488562	197616500	405930	32	9699										
ZNF518B	85460	genome.wustl.edu	37	chr4	10446457	10446457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaaaagggtttgatgcagctCcaagactacgtaaaacactg	10	8	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:10446457C>A	ENST00000326756.3	-	3	1934	c.1496G>T	c.(1495-1497)gGa>gTa	p.G499V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	499					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G499V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGATGCAGCTCCAAGACTACG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											91	95	94					4																	10446457		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1496G>T	4.37:g.10446457C>A	ENSP00000317614:p.Gly499Val		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G499V	ENST00000326756.3	37	c.1496	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283254	0.40394	.	.	ENSG00000178163	ENST00000326756	T	0.01981	4.52	5.43	3.51	0.40186	.	0.681976	0.13735	N	0.366413	T	0.01489	0.0048	N	0.25647	0.755	0.18873	N	0.999981	B	0.34372	0.451	B	0.23150	0.044	T	0.48055	-0.9068	10	0.34782	T	0.22	-13.7159	2.9949	0.05995	0.1987:0.5358:0.1671:0.0983	.	499	Q9C0D4	Z518B_HUMAN	V	499	ENSP00000317614:G499V	ENSP00000317614:G499V	G	-	2	0	ZNF518B	10055555	0.000000	0.05858	0.020000	0.16555	0.715000	0.41141	0.574000	0.23714	1.478000	0.48253	0.655000	0.94253	GGA	ZNF518B	-	NULL		0.373	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	C	NM_053042		10446457	-1	no_errors	ENST00000326756	ensembl	human	known	70_37	missense	SNP	0.001	A	A	10446457	C	A	10446457	3	1	62	1	0	0	0	0	1	0	0	0	17993	855	30	3	1732	3	ZNF518B	4	10446457	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		10446457	180707819	33	9700										
FRYL	285527	genome.wustl.edu	37	chr4	48537794	48537794	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtgtgtgtactgtacaaactCatcatgtgtgccagattgac	10	8	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:48537794C>T	ENST00000503238.1	-	45	6443	c.6444G>A	c.(6442-6444)atG>atA	p.M2148I	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.M2148I|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.M2148I			O94915	FRYL_HUMAN	FRY-like	2148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.M2148I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTACAAACTCATCATGTGTG	0.368																																																	1	Substitution - Missense(1)	cervix(1)											103	104	103					4																	48537794		1904	4131	6035	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6444G>A	4.37:g.48537794C>T	ENSP00000426064:p.Met2148Ile		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M2148I	ENST00000503238.1	37	c.6444	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.353771|5.353771	0.95830|0.95830	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|T;T;T	.|0.28666	.|1.6;1.6;1.6	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59555|0.59555	0.2202|0.2202	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.969;0.983;0.997	.|D;D;D	.|0.81914	.|0.968;0.992;0.995	T|T	0.58901|0.58901	-0.7554|-0.7554	5|10	.|0.66056	.|D	.|0.02	.|.	20.4366|20.4366	0.99092|0.99092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|978;2148;2148	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	K|I	1018|2148	.|ENSP00000426064:M2148I;ENSP00000351113:M2148I;ENSP00000441114:M2148I	.|ENSP00000351113:M2148I	E|M	-|-	1|3	0|0	FRYL|FRYL	48232551|48232551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	7.776000|7.776000	0.85560|0.85560	2.837000|2.837000	0.97791|0.97791	0.591000|0.591000	0.81541|0.81541	GAG|ATG	FRYL	-	superfamily_ARM-type_fold		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	C			48537794	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48537794	C	T	48537794	3	4	62	1	0	0	0	0	1	0	0	0	6082	826	29	1	2665	1	FRYL	4	48537794	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	38091337	48537794	142616482	34	9701										
HELQ	113510	genome.wustl.edu	37	chr4	84361036	84361036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttgcttaaaaatttgcatatCatttctgctacattttcaca	3	8	3	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:84361036C>T	ENST00000295488.3	-	8	1950	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	HELQ_ENST00000510985.1_Missense_Mutation_p.M529I	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	596	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.M596I(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATTTGCATATCATTTCTGCTA	0.294								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Missense(1)	cervix(1)											45	48	47					4																	84361036		2203	4298	6501	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1788G>A	4.37:g.84361036C>T	ENSP00000295488:p.Met596Ile		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M596I	ENST00000295488.3	37	c.1788	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868335	0.91587	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.41758	0.99;0.99	5.68	5.68	0.88126	Helicase, C-terminal (2);	0.037067	0.85682	D	0.000000	T	0.36826	0.0981	L	0.39147	1.195	0.80722	D	1	P;B	0.41159	0.74;0.409	B;B	0.36666	0.23;0.184	T	0.08249	-1.0731	10	0.25751	T	0.34	.	19.7785	0.96405	0.0:1.0:0.0:0.0	.	529;596	E3W980;Q8TDG4	.;HELQ_HUMAN	I	596;529	ENSP00000295488:M596I;ENSP00000424539:M529I	ENSP00000295488:M596I	M	-	3	0	HELQ	84580060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.675000	0.91044	0.655000	0.94253	ATG	HELQ	-	smart_Helicase_C,pfscan_Helicase_C		0.294	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84361036	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84361036	C	T	84361036	3	4	62	1	0	0	0	0	1	0	0	0	7067	826	29	1	1561	1	HELQ	4	84361036	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	35823242	84361036	106793240	35	9702										
CENPE	1062	genome.wustl.edu	37	chr4	104035655	104035655	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cttcttctgagattttctctCaatagccttataacttcctt	3	11	4	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:104035655C>G	ENST00000265148.3	-	46	7586	c.7497G>C	c.(7495-7497)ttG>ttC	p.L2499F	CENPE_ENST00000380026.3_Missense_Mutation_p.L2378F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L2462F(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATTTTCTCTCAATAGCCTTA	0.328																																																	1	Substitution - Missense(1)	cervix(1)											179	166	171					4																	104035655		2202	4300	6502	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7497G>C	4.37:g.104035655C>G	ENSP00000265148:p.Leu2499Phe		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L2499F	ENST00000265148.3	37	c.7497	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	13.60	2.287052	0.40494	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.79554	-1.28;-1.23	4.77	1.59	0.23543	.	.	.	.	.	D	0.85813	0.5784	M	0.65498	2.005	0.30610	N	0.759593	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	T	0.79711	-0.1689	9	0.87932	D	0	.	6.2312	0.20736	0.0:0.6008:0.0:0.3992	.	2378;2499	Q02224-3;Q02224	.;CENPE_HUMAN	F	2499;2378	ENSP00000265148:L2499F;ENSP00000369365:L2378F	ENSP00000265148:L2499F	L	-	3	2	CENPE	104255104	0.989000	0.36119	0.941000	0.38009	0.465000	0.32709	0.464000	0.21988	0.372000	0.24591	0.591000	0.81541	TTG	CENPE	-	NULL		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104035655	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.857	G	G	104035655	C	G	104035655	3	3	62	1	0	0	0	0	1	0	0	0	3235	825	29	1	624	1	CENPE	4	104035655	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	19674619	104035655	87118621	36	9703										
C4orf21	55345	genome.wustl.edu	37	chr4	113461126	113461127	+	Frame_Shift_Ins	INS	-	-	T													0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agtcaatgcaacattcattcINSttttttctgaatcaatgaat							TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:113461126_113461127insT	ENST00000505019.1	-	27	6189_6190	c.6064_6065insA	c.(6064-6066)agafs	p.R2022fs	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2022						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		AACATTCATTCTTTTTTCTGAA	0.406																																																	0																																										SO:0001589	frameshift_variant	55345																														ENST00000505019.1:c.6065dupA	4.37:g.113461132_113461132dupT	ENSP00000424737:p.Arg2022fs		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Ins	INS	pfam_DUF2439,pfam_Znf_GRF	p.R2022fs	ENST00000505019.1	37	c.6065_6064		4																																																																																			C4orf21	-	NULL		0.406	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-			113461127	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.990	T	T	113461127	-	T	113461126	7	5	62	1	0	1	1	0	0	0	0	0	2259	913	32	0	257	0	C4orf21	4	113461126	Frame_Shift_Ins	INS	-	TCGA-DS-A0VN-01A-21D-A10S-08	9425471	113461126	77693150	37	9704										
ANK2	287	genome.wustl.edu	37	chr4	114267077	114267077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tacgcgatacgactcaggaaCcttgcggacgactatcattt	9	11	2	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:114267077C>T	ENST00000357077.4	+	35	4323	c.4270C>T	c.(4270-4272)Cct>Tct	p.P1424S	ANK2_ENST00000394537.3_Missense_Mutation_p.P1424S|ANK2_ENST00000510275.2_Missense_Mutation_p.P76S|ANK2_ENST00000506722.1_Missense_Mutation_p.P1415S|ANK2_ENST00000264366.6_Missense_Mutation_p.P1391S|ANK2_ENST00000509550.1_Missense_Mutation_p.P600S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1424					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P1424S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACTCAGGAACCTTGCGGACG	0.408																																																	1	Substitution - Missense(1)	cervix(1)											123	106	112					4																	114267077		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4270C>T	4.37:g.114267077C>T	ENSP00000349588:p.Pro1424Ser		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P1424S	ENST00000357077.4	37	c.4270	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.198202|5.198202	0.94997|0.94997	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960;ENST00000504415	T;T;T;T;T;T;T;T|.	0.27402|.	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.984;1.0;0.998;1.0;1.0|.	D;D;D;D;D;D;D|.	0.91635|.	0.982;0.998;0.917;0.998;0.976;0.999;0.999|.	T|T	0.73773|0.73773	-0.3877|-0.3877	10|5	0.87932|.	D|.	0|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600;1391;470;436;1424;1424;1415|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	S|I	1337;1415;470;1439;1424;1424;1391;1415;600;76|436;76	ENSP00000421011:P1337S;ENSP00000421067:P1415S;ENSP00000424722:P1439S;ENSP00000378044:P1424S;ENSP00000349588:P1424S;ENSP00000264366:P1391S;ENSP00000426944:P600S;ENSP00000421023:P76S|.	ENSP00000264366:P1391S|.	P|T	+|+	1|2	0|0	ANK2|ANK2	114486526|114486526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	4.872000|4.872000	0.63050|0.63050	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CCT|ACC	ANK2	-	NULL		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114267077	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114267077	C	T	114267077	3	4	62	1	0	0	0	0	1	0	0	0	621	507	18	4	4473	4	ANK2	4	114267077	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	805951	114267077	76887199	38	9705										
ADAD1	132612	genome.wustl.edu	37	chr4	123301290	123301290	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tttgcccagatgctgaaaaaGaacctgccagttcaaccagc	8	12	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:123301290G>C	ENST00000296513.2	+	3	251	c.66G>C	c.(64-66)aaG>aaC	p.K22N	ADAD1_ENST00000388725.2_Missense_Mutation_p.K4N|ADAD1_ENST00000388724.2_Missense_Mutation_p.K22N	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	22					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.K22N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGAAAAAGAACCTGCCAG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											80	68	72					4																	123301290		2203	4300	6503	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.66G>C	4.37:g.123301290G>C	ENSP00000296513:p.Lys22Asn		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.K22N	ENST00000296513.2	37	c.66	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000078	0.74818	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.47177	0.85;0.87;0.94	5.12	4.24	0.50183	.	0.170957	0.39341	N	0.001391	T	0.53850	0.1822	L	0.34521	1.04	0.32277	N	0.568044	P;D	0.76494	0.547;0.999	B;D	0.66847	0.28;0.947	T	0.63786	-0.6558	10	0.72032	D	0.01	-14.2665	10.5619	0.45150	0.1025:0.0:0.8975:0.0	.	22;22	Q96M93-2;Q96M93	.;ADAD1_HUMAN	N	22;22;22;22;4	ENSP00000296513:K22N;ENSP00000373376:K22N;ENSP00000373377:K4N	ENSP00000296513:K22N	K	+	3	2	ADAD1	123520740	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.681000	0.54648	1.063000	0.40649	0.555000	0.69702	AAG	ADAD1	-	NULL		0.483	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	G	NM_139243		123301290	1	no_errors	ENST00000296513	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123301290	G	C	123301290	3	2	62	1	0	0	0	0	1	0	0	0	231	933	33	1	68	1	ADAD1	4	123301290	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	9034213	123301290	67852986	39	9706										
USP38	84640	genome.wustl.edu	37	chr4	144106889	144106889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttcatcagggctaccactctCtggacaggaaggatgtagcc	11	11	3	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:144106889C>G	ENST00000307017.4	+	1	792	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V	RP11-284M14.1_ENST00000507486.1_RNA|USP38_ENST00000510377.1_Missense_Mutation_p.L96V|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	96					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L96V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CTACCACTCTCTGGACAGGAA	0.557																																																	1	Substitution - Missense(1)	cervix(1)											102	80	88					4																	144106889		2203	4300	6503	SO:0001583	missense	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.286C>G	4.37:g.144106889C>G	ENSP00000303434:p.Leu96Val		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L96V	ENST00000307017.4	37	c.286	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	C	2.427	-0.331661	0.05314	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.66099	-0.19;3.1	5.12	4.28	0.50868	.	0.090297	0.45867	N	0.000336	T	0.47229	0.1434	L	0.29908	0.895	0.43065	D	0.994695	B;B	0.14012	0.009;0.009	B;B	0.14578	0.008;0.011	T	0.41413	-0.9510	10	0.38643	T	0.18	-7.1026	8.9174	0.35590	0.0:0.6396:0.2853:0.075	.	96;96	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	V	96	ENSP00000427647:L96V;ENSP00000303434:L96V	ENSP00000303434:L96V	L	+	1	2	USP38	144326339	0.298000	0.24417	1.000000	0.80357	0.968000	0.65278	0.934000	0.28910	1.376000	0.46267	0.561000	0.74099	CTG	USP38	-	NULL		0.557	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1	C	NM_032557		144106889	1	no_errors	ENST00000307017	ensembl	human	known	70_37	missense	SNP	0.995	G	G	144106889	C	G	144106889	3	3	62	1	0	0	0	0	1	0	0	0	17100	912	32	1	288	1	USP38	4	144106889	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	20805599	144106889	47047387	40	9707										
FBXW7	55294	genome.wustl.edu	37	chr4	153247245	153247245	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cacacctttaccataaaatcAtatgctccactaacaaccct	1	15	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:153247245A>T	ENST00000281708.4	-	10	2786	c.1557T>A	c.(1555-1557)taT>taA	p.Y519*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.Y401*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Y519*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.Y343*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.Y439*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Y519*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	519					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.Y519*(2)|p.Y401*(1)|p.Y439*(1)|p.Y280*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCATAAAATCATATGCTCCAC	0.438			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	6	Substitution - Nonsense(5)|Unknown(1)	cervix(5)|haematopoietic_and_lymphoid_tissue(1)											197	189	192					4																	153247245		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1557T>A	4.37:g.153247245A>T	ENSP00000281708:p.Tyr519*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y519*	ENST00000281708.4	37	c.1557	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	A	36	5.927683	0.97110	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.72	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7378	9.1729	0.37093	0.798:0.0:0.202:0.0	.	.	.	.	X	519;401;439;343	.	ENSP00000263981:Y439X	Y	-	3	2	FBXW7	153466695	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.713000	0.54882	1.087000	0.41251	0.528000	0.53228	TAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.438	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	A			153247245	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	153247245	A	T	153247245	4	4	62	1	0	0	0	0	0	1	0	0	5787	224	8	5	578	5	FBXW7	4	153247245	Nonsense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	9140356	153247245	37907031	41	9708										
FHDC1	85462	genome.wustl.edu	37	chr4	153864414	153864414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	caccacctccacttcctgggGagcctcccatcccacctccc	5	23	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr4:153864414G>A	ENST00000511601.1	+	2	393	c.205G>A	c.(205-207)Gag>Aag	p.E69K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E69K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	69								p.E69K(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACTTCCTGGGGAGCCTCCCAT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											26	26	26					4																	153864414		2198	4287	6485	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.205G>A	4.37:g.153864414G>A	ENSP00000427567:p.Glu69Lys			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.E69K	ENST00000511601.1	37	c.205	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	5.555	0.287353	0.10513	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.28895	1.59;1.59	4.85	4.0	0.46444	Actin-binding FH2 (1);	2.808940	0.01051	N	0.004469	T	0.18800	0.0451	N	0.08118	0	0.21416	N	0.999695	B	0.25904	0.137	B	0.20767	0.031	T	0.24584	-1.0156	10	0.09084	T	0.74	.	11.3669	0.49677	0.0902:0.0:0.9097:0.0	.	69	Q9C0D6	FHDC1_HUMAN	K	69	ENSP00000427567:E69K;ENSP00000260008:E69K	ENSP00000260008:E69K	E	+	1	0	FHDC1	154083864	0.999000	0.42202	0.185000	0.23176	0.400000	0.30750	3.168000	0.50801	1.182000	0.42928	0.563000	0.77884	GAG	FHDC1	-	superfamily_FH2_actin-bd		0.577	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	G	NM_033393		153864414	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.822	A	A	153864414	G	A	153864414	3	1	62	1	0	0	0	0	1	0	0	0	5894	1175	41	1	207	1	FHDC1	4	153864414	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	617169	153864414	37289862	42	9709										
AP3B1	8546	genome.wustl.edu	37	chr5	77524005	77524005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aagtgcttatggacaggagtGcaagatcctgctgttcttca	11	8	2	1	rs62001053	byFrequency	TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr5:77524005G>T	ENST00000255194.6	-	4	513	c.338C>A	c.(337-339)gCa>gAa	p.A113E	AP3B1_ENST00000519295.1_Missense_Mutation_p.A64E	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	113					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.A113E(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGACAGGAGTGCAAGATCCTG	0.378									Hermansky-Pudlak syndrome																																								1	Substitution - Missense(1)	cervix(1)											103	98	99					5																	77524005		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.338C>A	5.37:g.77524005G>T	ENSP00000255194:p.Ala113Glu		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.A113E	ENST00000255194.6	37	c.338	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.166777	0.94768	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.31247	1.5;1.5	5.48	5.48	0.80851	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.213874	0.47852	D	0.000205	T	0.69548	0.3123	H	0.96720	3.87	0.80722	D	1	D	0.55800	0.973	D	0.63113	0.911	T	0.80417	-0.1391	10	0.87932	D	0	-7.9659	19.7648	0.96335	0.0:0.0:1.0:0.0	.	113	O00203	AP3B1_HUMAN	E	113;64;113	ENSP00000255194:A113E;ENSP00000430597:A64E	ENSP00000255194:A113E	A	-	2	0	AP3B1	77559761	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.970000	0.88000	2.739000	0.93911	0.579000	0.79373	GCA	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.378	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	G			77524005	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77524005	G	T	77524005	3	4	62	1	0	0	0	0	1	0	0	0	744	1319	46	4	3042	4	AP3B1	5	77524005	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		77524005	103391255	43	9710										
PCDHAC1	56135	genome.wustl.edu	37	chr5	140306841	140306841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tggacaccaatgacaactcaCctctctttcctgccggcgac	7	16	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr5:140306841C>A	ENST00000253807.2	+	1	364	c.364C>A	c.(364-366)Cct>Act	p.P122T	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.P122T|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P122T(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAACTCACCTCTCTTTCC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											64	58	60					5																	140306841		2203	4300	6503	SO:0001583	missense	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.364C>A	5.37:g.140306841C>A	ENSP00000253807:p.Pro122Thr		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P122T	ENST00000253807.2	37	c.364	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.391028	0.95988	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.72394	-0.65;-0.65	5.48	5.48	0.80851	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90445	0.7008	H	0.97540	4.025	0.43885	D	0.996501	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93577	0.6909	9	0.87932	D	0	.	19.3478	0.94372	0.0:1.0:0.0:0.0	.	122;122	Q9H158;Q9H158-2	PCDC1_HUMAN;.	T	122	ENSP00000386356:P122T;ENSP00000253807:P122T	ENSP00000253807:P122T	P	+	1	0	PCDHAC1	140287025	1.000000	0.71417	0.800000	0.32199	0.988000	0.76386	4.938000	0.63519	2.568000	0.86640	0.561000	0.74099	CCT	PCDHAC1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	C	NM_018898		140306841	1	no_errors	ENST00000253807	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140306841	C	A	140306841	3	1	62	1	0	0	0	0	1	0	0	0	11556	507	18	4	366	4	PCDHAC1	5	140306841	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	62782836	140306841	40608419	44	9711										
PDGFRB	5159	genome.wustl.edu	37	chr5	149506138	149506138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgatggtgagcaccaccaggGccaggatggctgagatcacc	14	11	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr5:149506138G>A	ENST00000261799.4	-	11	2088	c.1619C>T	c.(1618-1620)gCc>gTc	p.A540V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	540					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.A540V(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCACCAGGGCCAGGATGGC	0.572			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	1	Substitution - Missense(1)	cervix(1)											123	95	105					5																	149506138		2203	4300	6503	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1619C>T	5.37:g.149506138G>A	ENSP00000261799:p.Ala540Val		B5A957|Q8N5L4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.A540V	ENST00000261799.4	37	c.1619	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860488	0.32884	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.77877	-1.13	4.92	4.92	0.64577	.	0.000000	0.52532	D	0.000070	T	0.78572	0.4304	L	0.33339	1.005	0.48452	D	0.999659	B;D	0.69078	0.376;0.997	B;P	0.61533	0.07;0.89	T	0.72701	-0.4214	10	0.06494	T	0.89	.	18.1376	0.89624	0.0:0.0:1.0:0.0	.	540;540	A8KAM8;P09619	.;PGFRB_HUMAN	V	540;210	ENSP00000261799:A540V	ENSP00000261799:A540V	A	-	2	0	PDGFRB	149486331	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.444000	0.52914	2.285000	0.76669	0.455000	0.32223	GCC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.572	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149506138	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149506138	G	A	149506138	3	1	62	1	0	0	0	0	1	0	0	0	11686	1203	42	4	1753	4	PDGFRB	5	149506138	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	9199297	149506138	31409122	45	9712										
SYNPO	11346	genome.wustl.edu	37	chr5	150028172	150028172	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cccacagagcctgccactttCtagcatccaacagaattcct	5	16	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr5:150028172C>G	ENST00000394243.1	+	3	1441	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	SYNPO_ENST00000522122.1_Missense_Mutation_p.S356C|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000307662.4_Missense_Mutation_p.S112C|SYNPO_ENST00000519664.1_Missense_Mutation_p.S112C	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	356					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.S112C(1)|p.S356C(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCACTTTCTAGCATCCAA	0.567																																																	2	Substitution - Missense(2)	cervix(2)											150	139	143					5																	150028172		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1067C>G	5.37:g.150028172C>G	ENSP00000377789:p.Ser356Cys		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S356C	ENST00000394243.1	37	c.1067	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	C	9.142	1.014076	0.19277	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.25749	1.78;1.78;1.79	4.49	3.6	0.41247	.	0.657792	0.13324	N	0.396468	T	0.20820	0.0501	L	0.27053	0.805	0.09310	N	1	P;P	0.51791	0.948;0.91	B;B	0.44163	0.443;0.326	T	0.05971	-1.0853	10	0.66056	D	0.02	-1.6483	9.8468	0.41032	0.2049:0.7951:0.0:0.0	.	112;356	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	C	356;356;112;112	ENSP00000377789:S356C;ENSP00000428378:S356C;ENSP00000429268:S112C	ENSP00000302139:S112C	S	+	2	0	SYNPO	150008365	0.003000	0.15002	0.001000	0.08648	0.184000	0.23303	1.711000	0.37930	0.858000	0.35431	0.561000	0.74099	TCT	SYNPO	-	NULL		0.567	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	C	NM_007286		150028172	1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.020	G	G	150028172	C	G	150028172	3	3	62	1	0	0	0	0	1	0	0	0	15486	913	32	1	1073	1	SYNPO	5	150028172	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	522034	150028172	30887088	46	9713										
LARP1	23367	genome.wustl.edu	37	chr5	154092620	154092620	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtggccttggcagctgccccGaggaaggagcccacaggtga	16	12	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr5:154092620G>A	ENST00000336314.4	+	1	159	c.135G>A	c.(133-135)ccG>ccA	p.P45P		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	63					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.P45P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTGCCCCGAGGAAGGAGC	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											50	49	49					5																	154092620		2203	4300	6503	SO:0001819	synonymous_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.135G>A	5.37:g.154092620G>A			O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.P45	ENST00000336314.4	37	c.135	CCDS4328.1	5																																																																																			LARP1	-	NULL		0.597	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154092620	1	no_errors	ENST00000336314	ensembl	human	known	70_37	silent	SNP	0.000	A	A	154092620	G	A	154092620	2	1	62	1	0	0	0	0	0	0	0	1	8648	1045	37	1		1	LARP1	5	154092620	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	4064448	154092620	26822640	47	9714										
SGCD	6444	genome.wustl.edu	37	chr5	155771677	155771677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctggattctcaaagtcatgaActtcacaattgtaagtaaaa	6	7	3	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr5:155771677A>C	ENST00000435422.3	+	2	666	c.179A>C	c.(178-180)aAc>aCc	p.N60T	SGCD_ENST00000447401.1_Missense_Mutation_p.N61T|SGCD_ENST00000517913.1_Missense_Mutation_p.N61T|SGCD_ENST00000337851.4_Missense_Mutation_p.N61T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	60					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.N61T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAGTCATGAACTTCACAATT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											84	89	87					5																	155771677		1967	4160	6127	SO:0001583	missense	6444			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.179A>C	5.37:g.155771677A>C	ENSP00000403003:p.Asn60Thr		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	pfam_Sarcoglycan	p.N61T	ENST00000435422.3	37	c.182	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471878	0.63737	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.59	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.94046	0.8092	L	0.61218	1.895	0.80722	D	1	P;P;P	0.42409	0.761;0.718;0.779	P;B;B	0.48524	0.58;0.445;0.445	D	0.91287	0.5056	10	0.25106	T	0.35	-2.8938	12.0667	0.53592	0.871:0.0:0.0:0.129	.	60;61;61	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	T	61;60;61;61	ENSP00000429378:N61T;ENSP00000403003:N60T;ENSP00000338343:N61T;ENSP00000408324:N61T	ENSP00000338343:N61T	N	+	2	0	SGCD	155704255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	0.930000	0.37217	0.533000	0.62120	AAC	SGCD	-	pfam_Sarcoglycan		0.423	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	A			155771677	1	no_errors	ENST00000337851	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155771677	A	C	155771677	3	2	62	1	0	0	0	0	1	0	0	0	14231	43	2	5	188	5	SGCD	5	155771677	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	1679057	155771677	25143583	48	9715										
ZNF184	7738	genome.wustl.edu	37	chr6	27420477	27420477	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtaagagatggaccctcaatGaagccttttccacactgatc	8	11	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr6:27420477G>A	ENST00000211936.6	-	6	1145	c.861C>T	c.(859-861)ttC>ttT	p.F287F	ZNF184_ENST00000377419.1_Silent_p.F287F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F287F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACCCTCAATGAAGCCTTTTC	0.378																																																	2	Substitution - coding silent(2)	cervix(1)|kidney(1)											77	80	79					6																	27420477		2203	4300	6503	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.861C>T	6.37:g.27420477G>A			B2R715|O60792|Q8TBA9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F287	ENST00000211936.6	37	c.861	CCDS4624.1	6																																																																																			ZNF184	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	G	NM_007149		27420477	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27420477	G	A	27420477	2	1	62	1	0	0	0	0	0	0	0	1	17781	1281	45	1		1	ZNF184	6	27420477	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		27420477	143694590	49	9716										
ECT2L	345930	genome.wustl.edu	37	chr6	139206714	139206714	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	accattgttaccaaaatgctGaggtacgttctgagggagag	12	7	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr6:139206714G>A	ENST00000423192.1	+	16	2261	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	ECT2L_ENST00000367682.2_Silent_p.L700L|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	700	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L700L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCAAAATGCTGAGGTACGTTC	0.493			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	1	Substitution - coding silent(1)	cervix(1)											105	98	100					6																	139206714		1918	4121	6039	SO:0001819	synonymous_variant	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2100G>A	6.37:g.139206714G>A			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain	p.L700	ENST00000423192.1	37	c.2100	CCDS43508.1	6																																																																																			ECT2L	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.493	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	G	NM_001077706		139206714	1	no_errors	ENST00000367682	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139206714	G	A	139206714	2	1	62	1	0	0	0	0	0	0	0	1	4912	1277	45	1		1	ECT2L	6	139206714	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	111786237	139206714	31908353	50	9717										
NOX3	50508	genome.wustl.edu	37	chr6	155764498	155764498	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaagtccctgggcctcctcgGactggctccagtggtagcgt	14	13	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr6:155764498G>C	ENST00000159060.2	-	5	497	c.395C>G	c.(394-396)tCc>tGc	p.S132C		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	132	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.S132C(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGCCTCCTCGGACTGGCTCCA	0.577																																																	1	Substitution - Missense(1)	cervix(1)											96	81	86					6																	155764498		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.395C>G	6.37:g.155764498G>C	ENSP00000159060:p.Ser132Cys		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.S132C	ENST00000159060.2	37	c.395	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170252	0.38315	.	.	ENSG00000074771	ENST00000159060	D	0.95885	-3.84	5.52	5.52	0.82312	Flavoprotein transmembrane component (1);	0.599135	0.15946	N	0.236957	D	0.96200	0.8761	L	0.59436	1.845	0.35640	D	0.810885	D	0.63046	0.992	P	0.59948	0.866	D	0.96459	0.9340	10	0.56958	D	0.05	-6.607	17.6208	0.88080	0.0:0.0:1.0:0.0	.	132	Q9HBY0	NOX3_HUMAN	C	132	ENSP00000159060:S132C	ENSP00000159060:S132C	S	-	2	0	NOX3	155806190	0.998000	0.40836	0.245000	0.24217	0.003000	0.03518	3.157000	0.50716	2.586000	0.87340	0.561000	0.74099	TCC	NOX3	-	pfam_Fe3_Rdtase_TM_dom		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	G			155764498	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	0.867	C	C	155764498	G	C	155764498	3	2	62	1	0	0	0	0	1	0	0	0	10581	1174	41	1	1347	1	NOX3	6	155764498	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	16557784	155764498	15350569	51	9718										
NOX3	50508	genome.wustl.edu	37	chr6	155764527	155764527	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cagtggtagcgttccaggttGaagaaatgcgccacgatgtg	14	8	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr6:155764527G>A	ENST00000159060.2	-	5	468	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	122	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.F122F(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTTCCAGGTTGAAGAAATGCG	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											85	74	78					6																	155764527		2203	4300	6503	SO:0001819	synonymous_variant	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.366C>T	6.37:g.155764527G>A			Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.F122	ENST00000159060.2	37	c.366	CCDS5250.1	6																																																																																			NOX3	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain		0.537	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	G			155764527	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	silent	SNP	0.997	A	A	155764527	G	A	155764527	2	1	62	1	0	0	0	0	0	0	0	1	10581	1281	45	1		1	NOX3	6	155764527	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	29	155764527	15350540	52	9719										
CARD11	84433	genome.wustl.edu	37	chr7	2972191	2972191	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgaaaatctgatgttcgcttCaggctgatgggggatttggc	14	6	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:2972191C>T	ENST00000396946.4	-	11	1951	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	516					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.L509L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGTTCGCTTCAGGCTGATGG	0.493			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - coding silent(1)	cervix(1)											144	114	124					7																	2972191		2203	4300	6503	SO:0001819	synonymous_variant	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1548G>A	7.37:g.2972191C>T			A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.L516	ENST00000396946.4	37	c.1548	CCDS5336.2	7																																																																																			CARD11	-	NULL		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2972191	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2972191	C	T	2972191	2	4	62	1	0	0	0	0	0	0	0	1	2650	813	29	1		1	CARD11	7	2972191	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		2972191	156166472	53	9720										
IKZF1	10320	genome.wustl.edu	37	chr7	50468081	50468081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccgcgcctacgacctgctgcGcgccgcctccgagaactcgc	11	20	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:50468081G>A	ENST00000331340.3	+	8	1471	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	IKZF1_ENST00000346667.4_Missense_Mutation_p.R209H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R352H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R352H|IKZF1_ENST00000359197.5_Missense_Mutation_p.R397H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R352H|IKZF1_ENST00000349824.4_Missense_Mutation_p.R296H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.R397H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	439					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.R439H(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACCTGCTGCGCGCCGCCTCC	0.672			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(28)|cervix(1)											26	31	29					7																	50468081		2111	4224	6335	SO:0001583	missense	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1316G>A	7.37:g.50468081G>A	ENSP00000331614:p.Arg439His		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R439H	ENST00000331340.3	37	c.1316		7	.	.	.	.	.	.	.	.	.	.	G	32	5.159332	0.94686	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	D;D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.52	5.52	0.82312	.	0.047895	0.85682	D	0.000000	D	0.98251	0.9421	.	.	.	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.951;0.967;0.989;0.997	D	0.98847	1.0757	9	0.66056	D	0.02	-1.727	19.4353	0.94792	0.0:0.0:1.0:0.0	.	352;209;352;397;439	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	H	209;352;397;296;352;439;352;397	ENSP00000340080:R209H;ENSP00000342750:R352H;ENSP00000352123:R397H;ENSP00000342485:R296H;ENSP00000349928:R352H;ENSP00000331614:R439H;ENSP00000396554:R352H;ENSP00000413025:R397H	ENSP00000331614:R439H	R	+	2	0	IKZF1	50435575	1.000000	0.71417	0.943000	0.38184	0.966000	0.64601	4.973000	0.63763	2.593000	0.87608	0.650000	0.86243	CGC	IKZF1	-	NULL		0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	G	NM_006060		50468081	1	no_errors	ENST00000331340	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50468081	G	A	50468081	3	1	62	1	0	0	0	0	1	0	0	0	7634	1087	38	2	1342	2	IKZF1	7	50468081	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	47495890	50468081	108670582	54	9721										
ERV3	2086	genome.wustl.edu	37	chr7	64452419	64452419	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agaaccagatgctctgacttGatggtgcaggttcgagggaa	14	7	1	4			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:64452419G>C	ENST00000394323.2	-	2	1486	c.986C>G	c.(985-987)tCa>tGa	p.S329*	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	329						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)		p.S329*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gctctgacttgatggtgcagg	0.478																																																	1	Substitution - Nonsense(1)	cervix(1)											98	93	95					7																	64452419		1878	4114	5992	SO:0001587	stop_gained	2086			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.986C>G	7.37:g.64452419G>C	ENSP00000391594:p.Ser329*			Nonsense_Mutation	SNP	NULL	p.S329*	ENST00000394323.2	37	c.986	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	29.1	4.976968	0.92982	.	.	ENSG00000213462	ENST00000394323	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	.	.	.	.	.	.	.	X	329	.	ENSP00000391594:S329X	S	-	2	0	ERV3-1	64089854	0.080000	0.21391	0.097000	0.21041	0.097000	0.18754	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	TCA	ERV3-1	-	NULL		0.478	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	G	NM_001007253		64452419	-1	no_errors	ENST00000394323	ensembl	human	known	70_37	nonsense	SNP	0.108	C	C	64452419	G	C	64452419	4	2	62	1	0	0	0	0	0	1	0	0	5257	1294	45	1	832	1	ERV3	7	64452419	Nonsense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	13984338	64452419	94686244	55	9722										
SEMA3A	10371	genome.wustl.edu	37	chr7	83640567	83640567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aaatcagacgagctttgaggAatgttgtccatttattcacc	8	8	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:83640567A>G	ENST00000265362.4	-	8	1171	c.857T>C	c.(856-858)tTc>tCc	p.F286S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.F286S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.F286S(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGCTTTGAGGAATGTTGTCCA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											128	117	121					7																	83640567		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.857T>C	7.37:g.83640567A>G	ENSP00000265362:p.Phe286Ser			Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.F286S	ENST00000265362.4	37	c.857	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	A	29.0	4.965826	0.92855	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.40225	1.04;1.04	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83492	0.0070	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	286	Q14563	SEM3A_HUMAN	S	286	ENSP00000265362:F286S;ENSP00000415260:F286S	ENSP00000265362:F286S	F	-	2	0	SEMA3A	83478503	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	TTC	SEMA3A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	A	NM_006080		83640567	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83640567	A	G	83640567	3	3	62	1	0	0	0	0	1	0	0	0	14054	246	9	5	1498	5	SEMA3A	7	83640567	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	19188148	83640567	75498096	56	9723										
PON3	5446	genome.wustl.edu	37	chr7	95001611	95001611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	caagaagatttttcctggttCatctggcgcaaagtttggca	10	8	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:95001611C>T	ENST00000265627.5	-	4	251	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PON3_ENST00000427422.1_Missense_Mutation_p.E81K|PON3_ENST00000451904.1_Missense_Mutation_p.E81K|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	81					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.E81K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TTTCCTGGTTCATCTGGCGCA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											136	128	131					7																	95001611		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.241G>A	7.37:g.95001611C>T	ENSP00000265627:p.Glu81Lys		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.E81K	ENST00000265627.5	37	c.241	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	C	1.837	-0.468438	0.04445	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16743	2.32;2.32	4.82	-1.31	0.09230	Six-bladed beta-propeller, TolB-like (1);	0.648190	0.16104	N	0.229401	T	0.04770	0.0129	N	0.02275	-0.615	0.09310	N	0.999999	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.42481	-0.9449	10	0.02654	T	1	-4.8313	10.2118	0.43145	0.0:0.2835:0.0:0.7165	.	129;81	B4E2I0;Q15166	.;PON3_HUMAN	K	81	ENSP00000265627:E81K;ENSP00000413276:E81K	ENSP00000265627:E81K	E	-	1	0	PON3	94839547	0.840000	0.29493	0.511000	0.27724	0.758000	0.43043	0.436000	0.21526	-0.134000	0.11516	0.555000	0.69702	GAA	PON3	-	prints_Arylesterase		0.353	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	C	NM_000940		95001611	-1	no_errors	ENST00000265627	ensembl	human	known	70_37	missense	SNP	0.149	T	T	95001611	C	T	95001611	3	4	62	1	0	0	0	0	1	0	0	0	12274	835	29	1	847	1	PON3	7	95001611	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	11361044	95001611	64137052	57	9724										
GRM8	2918	genome.wustl.edu	37	chr7	126542611	126542611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gttacctgtgcatttctttaTatgactgttccttttcccat	5	10	1	1	rs553795874		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:126542611T>C	ENST00000339582.2	-	6	1949	c.1141A>G	c.(1141-1143)Ata>Gta	p.I381V	GRM8_ENST00000405249.1_Missense_Mutation_p.I381V|GRM8_ENST00000444921.2_Missense_Mutation_p.I381V|GRM8_ENST00000358373.3_Missense_Mutation_p.I381V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	381					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.I381V(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CATTTCTTTATATGACTGTTC	0.358										HNSCC(24;0.065)			T|||	1	0.000199681	0	0	5008	,	,		16632	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	cervix(2)											64	65	65					7																	126542611		2203	4298	6501	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1141A>G	7.37:g.126542611T>C	ENSP00000344173:p.Ile381Val		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.I381V	ENST00000339582.2	37	c.1141	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	T	5.750	0.322883	0.10900	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.88	2.39	0.29439	Extracellular ligand-binding receptor (1);	0.364566	0.28595	N	0.014784	T	0.63260	0.2496	N	0.11064	0.09	0.30367	N	0.783283	B;B;B	0.15141	0.002;0.012;0.001	B;B;B	0.11329	0.006;0.006;0.006	T	0.49224	-0.8962	10	0.10377	T	0.69	.	2.6692	0.05062	0.1466:0.081:0.1526:0.6198	.	381;381;381	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	V	381	ENSP00000344173:I381V;ENSP00000409790:I381V;ENSP00000351142:I381V;ENSP00000385731:I381V	ENSP00000344173:I381V	I	-	1	0	GRM8	126329847	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	1.839000	0.39220	0.197000	0.20387	0.418000	0.28097	ATA	GRM8	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt_4		0.358	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	T			126542611	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	0.996	C	C	126542611	T	C	126542611	3	2	62	1	0	0	0	0	1	0	0	0	6823	1406	49	5	1659	5	GRM8	7	126542611	Missense_Mutation	SNP	T	TCGA-DS-A0VN-01A-21D-A10S-08	31541000	126542611	32596052	58	9725										
UBE2H	7328	genome.wustl.edu	37	chr7	129474842	129474842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agagctctccgatgagctgtCcccggtaccctcttcctgtt	9	15	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr7:129474842C>T	ENST00000355621.3	-	7	880	c.487G>A	c.(487-489)Gac>Aac	p.D163N	UBE2H_ENST00000473814.2_Missense_Mutation_p.D132N	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	163					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.D163N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					GATGAGCTGTCCCCGGTACCC	0.507																																																	1	Substitution - Missense(1)	cervix(1)											94	87	89					7																	129474842		2203	4300	6503	SO:0001583	missense	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12484	protein-coding gene	gene with protein product	"GID complex subunit 3, UBC8 homolog (S. cerevisiae)"	601082	"ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)", "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.487G>A	7.37:g.129474842C>T	ENSP00000347836:p.Asp163Asn		A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D163N	ENST00000355621.3	37	c.487	CCDS5814.1	7	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570668	0.65765	.	.	ENSG00000186591	ENST00000355621;ENST00000473814;ENST00000496698	T;T;T	0.74002	-0.13;-0.8;1.44	5.88	5.88	0.94601	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	N	0.08118	0	0.80722	D	1	P;B	0.49447	0.924;0.1	P;B	0.59424	0.857;0.024	T	0.76132	-0.3071	10	0.44086	T	0.13	-30.2525	19.2287	0.93829	0.0:1.0:0.0:0.0	.	132;163	A4D1L6;P62256	.;UBE2H_HUMAN	N	163;132;130	ENSP00000347836:D163N;ENSP00000419097:D132N;ENSP00000417681:D130N	ENSP00000347836:D163N	D	-	1	0	UBE2H	129262078	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	7.466000	0.80914	2.797000	0.96272	0.561000	0.74099	GAC	UBE2H	-	NULL		0.507	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2H	HGNC	protein_coding	OTTHUMT00000349327.2	C	NM_003344		129474842	-1	no_errors	ENST00000355621	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129474842	C	T	129474842	3	4	62	1	0	0	0	0	1	0	0	0	16889	855	30	1	68	1	UBE2H	7	129474842	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	2932231	129474842	29663821	59	9726										
FBXO25	26260	genome.wustl.edu	37	chr8	400077	400077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	acattttggataaaatcgttCaaaagggtaagatgatcact	8	5	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:400077C>G	ENST00000276326.5	+	6	588	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E	FBXO25_ENST00000382824.1_Missense_Mutation_p.Q90E|FBXO25_ENST00000350302.3_Missense_Mutation_p.Q157E|RP11-91J19.3_ENST00000607549.1_RNA|FBXO25_ENST00000352684.2_Missense_Mutation_p.Q90E	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	157					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Q157E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TAAAATCGTTCAAAAGGGTAA	0.338																																																	1	Substitution - Missense(1)	cervix(1)											101	102	101					8																	400077		2203	4300	6503	SO:0001583	missense	26260			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.469C>G	8.37:g.400077C>G	ENSP00000276326:p.Gln157Glu		Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.Q157E	ENST00000276326.5	37	c.469	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788257	0.31593	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.98	5.98	0.97165	.	0.249823	0.42420	D	0.000712	T	0.18173	0.0436	L	0.53249	1.67	0.34545	D	0.710699	B;B;B	0.28636	0.015;0.218;0.218	B;B;B	0.30572	0.022;0.117;0.117	T	0.11084	-1.0602	10	0.02654	T	1	-7.1649	17.9231	0.88973	0.0:1.0:0.0:0.0	.	90;157;157	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	E	157;90;157;157;90	ENSP00000342077:Q157E;ENSP00000341345:Q90E;ENSP00000276326:Q157E;ENSP00000372274:Q90E	ENSP00000276326:Q157E	Q	+	1	0	FBXO25	390077	0.488000	0.25996	0.993000	0.49108	0.962000	0.63368	2.854000	0.48325	2.833000	0.97629	0.655000	0.94253	CAA	FBXO25	-	NULL		0.338	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	C	NM_012173		400077	1	no_errors	ENST00000276326	ensembl	human	known	70_37	missense	SNP	0.978	G	G	400077	C	G	400077	3	3	62	1	0	0	0	0	1	0	0	0	5754	827	29	1	487	1	FBXO25	8	400077	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		400077	145963945	60	9727										
DLC1	10395	genome.wustl.edu	37	chr8	13162751	13162751	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	attctaaaatagattggcgaGaaaacagaaccaaaatgtca	7	6	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:13162751G>A	ENST00000276297.4	-	5	1758				DLC1_ENST00000511869.1_Missense_Mutation_p.L459F|DLC1_ENST00000316609.5_Intron	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGATTGGCGAGAAAACAGAAC	0.279																																																	0													72	75	74					8																	13162751		2202	4298	6500	SO:0001627	intron_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1348+26C>T	8.37:g.13162751G>A			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	NULL	p.L459F	ENST00000276297.4	37	c.1375	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	5.214	0.224942	0.09916	.	.	ENSG00000164741	ENST00000511869	T	0.13778	2.56	3.99	-0.245	0.13027	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.41395	-0.9511	9	0.27082	T	0.32	.	4.3082	0.10958	0.4494:0.1809:0.3697:0.0	.	459	E9PF76	.	F	459	ENSP00000425878:L459F	ENSP00000425878:L459F	L	-	1	0	DLC1	13207122	0.010000	0.17322	0.007000	0.13788	0.011000	0.07611	-0.220000	0.09215	-0.053000	0.13289	0.471000	0.43371	CTC	DLC1	-	NULL		0.279	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		13162751	-1	no_errors	ENST00000511869	ensembl	human	novel	70_37	missense	SNP	0.003	A	A	13162751	G	A	13162751	1	1	62	0	1	0	0	0	0	0	0	0	4560	942	33	1		1	DLC1	8	13162751	Intron	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	12762674	13162751	133201271	61	9728										
KIAA1967	57805	genome.wustl.edu	37	chr8	22470619	22470619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gcatgacctgcctccttaccGggtccacctcactccttaca	6	18	1	1	rs200429085		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:22470619G>A	ENST00000308511.4	+	8	923	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	CCAR2_ENST00000389279.3_Missense_Mutation_p.R225Q|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	225					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.R225Q(1)									CCTCCTTACCGGGTCCACCTC	0.537																																																	1	Substitution - Missense(1)	cervix(1)											94	68	77					8																	22470619		2203	4300	6503	SO:0001583	missense	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.674G>A	8.37:g.22470619G>A	ENSP00000310670:p.Arg225Gln		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.R225Q	ENST00000308511.4	37	c.674	CCDS34863.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.103525	0.94245	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000522599	T;T;T	0.44083	1.48;1.48;0.93	5.87	5.87	0.94306	.	0.169307	0.41294	D	0.000904	T	0.49338	0.1551	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.24048	-1.0171	10	0.19590	T	0.45	-31.6041	17.4969	0.87720	0.0:0.0:1.0:0.0	.	225	Q8N163	K1967_HUMAN	Q	225;225;43	ENSP00000310670:R225Q;ENSP00000373930:R225Q;ENSP00000429739:R43Q	ENSP00000310670:R225Q	R	+	2	0	KIAA1967	22526564	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.197000	0.65141	2.941000	0.99782	0.655000	0.94253	CGG	KIAA1967	-	NULL		0.537	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1967	HGNC	protein_coding	OTTHUMT00000375865.1	G	NM_021174		22470619	1	no_errors	ENST00000308511	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22470619	G	A	22470619	3	1	62	1	0	0	0	0	1	0	0	0	8285	1116	39	2	700	2	KIAA1967	8	22470619	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	9307868	22470619	123893403	62	9729										
CDCA2	157313	genome.wustl.edu	37	chr8	25319603	25319603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctaccttaaaaaatgtagacGacgttctgcagtcggtgctc	9	10	1	1	rs149260399		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:25319603G>A	ENST00000330560.3	+	4	743	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	CDCA2_ENST00000380665.3_Missense_Mutation_p.R74Q	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	89					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R89Q(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAATGTAGACGACGTTCTGCA	0.403																																																	1	Substitution - Missense(1)	cervix(1)						G	GLN/ARG	0,4406		0,0,2203	103	102	102		266	5.4	0.6	8	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	CDCA2	NM_152562.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	89/1024	25319603	2,13004	2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.266G>A	8.37:g.25319603G>A	ENSP00000328228:p.Arg89Gln		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.R89Q	ENST00000330560.3	37	c.266	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559604	0.45590	0.0	2.33E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.66638	-0.22;-0.22	5.45	5.45	0.79879	.	0.000000	0.47455	D	0.000229	T	0.81206	0.4774	M	0.76002	2.32	0.37956	D	0.93281	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.84970	0.0882	10	0.87932	D	0	-11.0538	14.7814	0.69769	0.0:0.0:1.0:0.0	.	89;74;89	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	Q	89;74	ENSP00000328228:R89Q;ENSP00000370040:R74Q	ENSP00000328228:R89Q	R	+	2	0	CDCA2	25375520	0.908000	0.30866	0.564000	0.28396	0.054000	0.15201	4.883000	0.63128	2.546000	0.85860	0.491000	0.48974	CGA	CDCA2	-	NULL		0.403	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	G	NM_152562		25319603	1	no_errors	ENST00000330560	ensembl	human	known	70_37	missense	SNP	0.844	A	A	25319603	G	A	25319603	3	1	62	1	0	0	0	0	1	0	0	0	3091	1058	37	1	276	1	CDCA2	8	25319603	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	2848984	25319603	121044419	63	9730										
SDCBP	6386	genome.wustl.edu	37	chr8	59493158	59493158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgcttttatctttgaacataTtattaagcggtaagtaaaca	6	5	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:59493158T>C	ENST00000260130.4	+	8	983	c.833T>C	c.(832-834)aTt>aCt	p.I278T	SDCBP_ENST00000447267.2_Missense_Mutation_p.I224T|SDCBP_ENST00000520168.1_Missense_Mutation_p.I219T|SDCBP_ENST00000447182.2_Missense_Mutation_p.I277T|SDCBP_ENST00000424270.2_Missense_Mutation_p.I272T|SDCBP_ENST00000523483.1_Missense_Mutation_p.I298T|SDCBP_ENST00000413219.2_Missense_Mutation_p.I278T|SDCBP_ENST00000422546.2_Missense_Mutation_p.I277T	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	278					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.I278T(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTGAACATATTATTAAGCGG	0.333																																																	1	Substitution - Missense(1)	cervix(1)											83	75	78					8																	59493158		2203	4295	6498	SO:0001583	missense	6386			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.833T>C	8.37:g.59493158T>C	ENSP00000260130:p.Ile278Thr		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I278T	ENST00000260130.4	37	c.833	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395564	0.62177	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.53	5.53	0.82687	PDZ/DHR/GLGF (1);	0.113307	0.64402	D	0.000013	T	0.21145	0.0509	L	0.58101	1.795	0.51012	D	0.999907	B;P;B;B	0.34462	0.021;0.454;0.078;0.047	B;B;B;B	0.35182	0.032;0.197;0.169;0.044	T	0.01972	-1.1237	9	.	.	.	-18.3103	15.9669	0.79979	0.0:0.0:0.0:1.0	.	219;298;272;278	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	T	278;277;277;278;272;298;219;224	ENSP00000260130:I278T;ENSP00000391687:I277T;ENSP00000409288:I277T;ENSP00000411771:I278T;ENSP00000395351:I272T;ENSP00000428184:I298T;ENSP00000430730:I219T;ENSP00000397820:I224T	.	I	+	2	0	SDCBP	59655712	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.841000	0.86834	2.236000	0.73375	0.533000	0.62120	ATT	SDCBP	-	superfamily_PDZ		0.333	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	T	NM_005625		59493158	1	no_errors	ENST00000260130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59493158	T	C	59493158	3	2	62	1	0	0	0	0	1	0	0	0	13985	1493	52	5	859	5	SDCBP	8	59493158	Missense_Mutation	SNP	T	TCGA-DS-A0VN-01A-21D-A10S-08	34173555	59493158	86870864	64	9731										
PAG1	55824	genome.wustl.edu	37	chr8	81892678	81892678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aacaaaacttacctcttcttCtgtgagagtggggtcttctt	8	9	5	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:81892678C>T	ENST00000220597.4	-	8	1638	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	310					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.E310K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACCTCTTCTTCTGTGAGAGTG	0.378																																																	1	Substitution - Missense(1)	cervix(1)											85	81	83					8																	81892678		2203	4300	6503	SO:0001583	missense	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.928G>A	8.37:g.81892678C>T	ENSP00000220597:p.Glu310Lys		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	NULL	p.E310K	ENST00000220597.4	37	c.928	CCDS6227.1	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963673	0.74016	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.12	5.12	0.69794	.	0.053895	0.64402	D	0.000001	T	0.70971	0.3285	M	0.69823	2.125	0.49483	D	0.999798	P	0.46395	0.877	P	0.49853	0.624	T	0.74919	-0.3500	9	0.59425	D	0.04	-18.1227	16.7186	0.85404	0.0:1.0:0.0:0.0	.	310	Q9NWQ8	PAG1_HUMAN	K	310	.	ENSP00000220597:E310K	E	-	1	0	PAG1	82055233	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.730000	0.62015	2.366000	0.80165	0.655000	0.94253	GAA	PAG1	-	NULL		0.378	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAG1	HGNC	protein_coding	OTTHUMT00000379352.3	C	NM_018440		81892678	-1	no_errors	ENST00000220597	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81892678	C	T	81892678	3	4	62	1	0	0	0	0	1	0	0	0	11412	922	32	1	378	1	PAG1	8	81892678	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	22399520	81892678	64471344	65	9732										
PLEC	5339	genome.wustl.edu	37	chr8	144992837	144992837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cagcagcaggcgggccacctCggcactcagcagccctttct	11	17	2	0	rs201007788		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr8:144992837C>T	ENST00000322810.4	-	32	11732	c.11563G>A	c.(11563-11565)Gag>Aag	p.E3855K	PLEC_ENST00000357649.2_Missense_Mutation_p.E3722K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3718K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3718K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3696K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3745K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3704K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3686K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3741K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3855	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E3745K(1)|p.E3718K(1)|p.E3855K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGCCACCTCGGCACTCAGC	0.652																																																	3	Substitution - Missense(3)	cervix(3)											25	31	29					8																	144992837		1927	4061	5988	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11563G>A	8.37:g.144992837C>T	ENSP00000323856:p.Glu3855Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E3855K	ENST00000322810.4	37	c.11563	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410762	0.42817	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	3.78	3.78	0.43462	.	0.090535	0.42548	U	0.000691	T	0.71143	0.3305	L	0.29908	0.895	0.58432	D	0.999998	P;P;P;P;P;P;P;P	0.52061	0.938;0.938;0.938;0.95;0.938;0.938;0.938;0.938	B;B;B;P;B;B;B;B	0.45829	0.435;0.361;0.361;0.494;0.361;0.361;0.361;0.361	T	0.77059	-0.2728	10	0.72032	D	0.01	.	14.8963	0.70646	0.0:1.0:0.0:0.0	.	3745;3704;3696;3855;3686;3718;3722;3718	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3718;3722;3718;3686;3855;3696;3704;3745;3741	ENSP00000344848:E3718K;ENSP00000350277:E3722K;ENSP00000346602:E3718K;ENSP00000381756:E3686K;ENSP00000323856:E3855K;ENSP00000347044:E3696K;ENSP00000348702:E3704K;ENSP00000388180:E3745K;ENSP00000434583:E3741K	ENSP00000323856:E3855K	E	-	1	0	PLEC	145064825	1.000000	0.71417	0.915000	0.36163	0.900000	0.52787	7.551000	0.82182	2.103000	0.63969	0.297000	0.19635	GAG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144992837	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144992837	C	T	144992837	3	4	62	1	0	0	0	0	1	0	0	0	12076	893	31	1	2495	1	PLEC	8	144992837	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	63100159	144992837	1371185	66	9733										
CEP78	84131	genome.wustl.edu	37	chr9	80855103	80855103	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gagagagggatttaactattCtagcaaaggtaagctttgtc	11	5	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr9:80855103C>T	ENST00000424347.2	+	2	707	c.418C>T	c.(418-420)Cta>Tta	p.L140L	CEP78_ENST00000376598.2_Silent_p.L140L|CEP78_ENST00000415759.2_Silent_p.L140L|CEP78_ENST00000277082.5_Silent_p.L140L|CEP78_ENST00000376597.4_Silent_p.L140L			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	140					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.L140L(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTTAACTATTCTAGCAAAGGT	0.353																																																	2	Substitution - coding silent(2)	cervix(2)											85	81	82					9																	80855103		1827	4088	5915	SO:0001819	synonymous_variant	84131			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.418C>T	9.37:g.80855103C>T			A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L140	ENST00000424347.2	37	c.418		9																																																																																			CEP78	-	NULL		0.353	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	C	XM_095991		80855103	1	no_errors	ENST00000376597	ensembl	human	known	70_37	silent	SNP	0.136	T	T	80855103	C	T	80855103	2	4	62	1	0	0	0	0	0	0	0	1	3267	912	32	1		1	CEP78	9	80855103	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		80855103	60358328	67	9734										
ZFP37	7539	genome.wustl.edu	37	chr9	115806340	115806340	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgatcaggtaaatctaaattCtgtttcaaaatttttccaca	4	7	4	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr9:115806340C>T	ENST00000374227.3	-	4	585	c.558G>A	c.(556-558)caG>caA	p.Q186Q	ZFP37_ENST00000553380.1_Silent_p.Q201Q|ZFP37_ENST00000555206.1_Silent_p.Q187Q	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q186Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATCTAAATTCTGTTTCAAAA	0.318																																																	1	Substitution - coding silent(1)	cervix(1)											99	102	101					9																	115806340		2203	4298	6501	SO:0001819	synonymous_variant	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.558G>A	9.37:g.115806340C>T			A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q201	ENST00000374227.3	37	c.603	CCDS6787.1	9																																																																																			ZFP37	-	NULL		0.318	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	C	NM_003408		115806340	-1	no_errors	ENST00000553380	ensembl	human	known	70_37	silent	SNP	0.318	T	T	115806340	C	T	115806340	2	4	62	1	0	0	0	0	0	0	0	1	17678	912	32	1		1	ZFP37	9	115806340	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	34951237	115806340	25407091	68	9735										
URM1	81605	genome.wustl.edu	37	chr9	131150142	131150142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tcaagaagaatttgctaaaaGagcggccagagttgttcatc	10	7	2	4			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr9:131150142G>C	ENST00000372853.4	+	3	216	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	URM1_ENST00000372847.1_3'UTR|URM1_ENST00000452446.1_Missense_Mutation_p.E52Q|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_Missense_Mutation_p.E52Q	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1									p.E52Q(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TTTGCTAAAAGAGCGGCCAGA	0.537																																																	2	Substitution - Missense(2)	cervix(2)											121	120	120					9																	131150142		2203	4300	6503	SO:0001583	missense	81605			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"chromosome 9 open reading frame 74", "ubiquitin related modifier 1 homolog (S. cerevisiae)"	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372853.4:c.154G>C	9.37:g.131150142G>C	ENSP00000361944:p.Glu52Gln			Missense_Mutation	SNP	pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b	p.E52Q	ENST00000372853.4	37	c.154	CCDS6900.1	9	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989911	0.93106	.	.	ENSG00000167118	ENST00000372853;ENST00000452446;ENST00000372850	.	.	.	5.67	5.67	0.87782	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.76071	0.987;0.976	D	0.87937	0.2714	9	0.72032	D	0.01	-9.3488	18.751	0.91814	0.0:0.0:1.0:0.0	.	52;52	Q9BTM9-2;Q9BTM9	.;URM1_HUMAN	Q	52	.	ENSP00000361941:E52Q	E	+	1	0	URM1	130189963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.484000	0.90445	2.666000	0.90696	0.561000	0.74099	GAG	URM1	-	pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b		0.537	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URM1	HGNC	protein_coding	OTTHUMT00000054422.1	G	NM_030914		131150142	1	no_errors	ENST00000452446	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131150142	G	C	131150142	3	2	62	1	0	0	0	0	1	0	0	0	17058	943	33	1	164	1	URM1	9	131150142	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	15343802	131150142	10063289	69	9736										
SPTAN1	6709	genome.wustl.edu	37	chr9	131344825	131344825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aatggaagatgtggccactcGccgagatgctgtaagtttgt	13	7	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr9:131344825G>A	ENST00000372731.4	+	13	1750	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R547H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R547H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	547					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R547H(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGGCCACTCGCCGAGATGCT	0.408																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - Missense(1)	cervix(1)											181	176	178					9																	131344825		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1640G>A	9.37:g.131344825G>A	ENSP00000361816:p.Arg547His		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R547H	ENST00000372731.4	37	c.1640	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063033	0.76187	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.44881	0.91;0.91;0.91	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	M	0.90309	3.105	0.80722	D	1	D;D;D;P;D	0.89917	0.999;0.999;1.0;0.678;1.0	P;D;D;B;D	0.77004	0.907;0.989;0.949;0.16;0.988	T	0.76602	-0.2899	10	0.59425	D	0.04	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	547;547;547;547;547	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	547	ENSP00000350882:R547H;ENSP00000361816:R547H;ENSP00000361824:R547H	ENSP00000350882:R547H	R	+	2	0	SPTAN1	130384646	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	CGC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.408	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131344825	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131344825	G	A	131344825	3	1	62	1	0	0	0	0	1	0	0	0	15147	1087	38	2	1686	2	SPTAN1	9	131344825	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	194683	131344825	9868606	70	9737										
DNLZ	728489	genome.wustl.edu	37	chr9	139257980	139257997	+	In_Frame_Del	DEL	GCCCCAGAGCCGCCGCGG	GCCCCAGAGCCGCCGCGG	-													0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtagtgcgccgcctccacgcGccccagagccgccgcgggcc					rs568634364		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	GCCCCAGAGCCGCCGCGG	GCCCCAGAGCCGCCGCGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr9:139257980_139257997delGCCCCAGAGCCGCCGCGG	ENST00000371738.3	-	1	244_261	c.170_187delCCGCGGCGGCTCTGGGGC	c.(169-189)cccgcggcggctctggggcgc>cgc	p.PAAALG57del	DNLZ_ENST00000371739.3_In_Frame_Del_p.PAAALG57del|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	57						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GCCTCCACGCGCCCCAGAgccgccgcgggccccggccc	0.771																																																	0										0,2596		0,0,1298						1.7	0			7	9,5207		1,7,2600	no	coding	DNLZ	NM_001080849.1		1,7,3898	A1A1,A1R,RR		0.1725,0.0,0.1152				9,7803				SO:0001651	inframe_deletion	728489			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.170_187delCCGCGGCGGCTCTGGGGC	9.37:g.139257980_139257997delGCCCCAGAGCCGCCGCGG	ENSP00000360803:p.Pro57_Gly62del		B2RUX5|B9EJE1	In_Frame_Del	DEL	pfam_Znf_DNL-typ	p.PAAALG57in_frame_del	ENST00000371738.3	37	c.187_170	CCDS35179.1	9																																																																																			DNLZ	-	NULL		0.771	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNLZ	HGNC	protein_coding	OTTHUMT00000055075.2	GCCCCAGAGCCGCCGCGG	NM_001080849		139257997	-1	no_errors	ENST00000371738	ensembl	human	known	70_37	in_frame_del	DEL	0.005:0.007:0.064:0.067:0.062:0.062:0.050:0.044:0.061:0.084:0.058:0.081:0.066:0.064:0.036:0.037:0.050:0.061	-	-	139257997	GCCCCAGAGCCGCCGCGG	-	139257980	7	5	62	1	0	1	0	1	0	0	0	0	4679	1087	38	0	361	0	DNLZ	9	139257980	In_Frame_Del	DEL	GCCCCAGAGCCGCCGCGG	TCGA-DS-A0VN-01A-21D-A10S-08	7913155	139257980	1955451	71	9738										
SFXN4	119559	genome.wustl.edu	37	chr10	120917551	120917551	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atcacggacttgatccctttCagtggcgtcattgacaaaaa	8	10	3	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr10:120917551C>T	ENST00000355697.2	-	7	403	c.384G>A	c.(382-384)ctG>ctA	p.L128L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Silent_p.L119L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	128					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.L128L(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGATCCCTTTCAGTGGCGTCA	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											139	138	138					10																	120917551		2203	4300	6503	SO:0001819	synonymous_variant	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.384G>A	10.37:g.120917551C>T			Q6WSU4|Q86TD9	Silent	SNP	pfam_Mtc	p.L128	ENST00000355697.2	37	c.384	CCDS7610.1	10																																																																																			SFXN4	-	pfam_Mtc		0.413	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	HGNC	protein_coding	OTTHUMT00000050642.3	C	XM_058406		120917551	-1	no_errors	ENST00000355697	ensembl	human	known	70_37	silent	SNP	0.000	T	T	120917551	C	T	120917551	2	4	62	1	0	0	0	0	0	0	0	1	14227	813	29	1		1	SFXN4	10	120917551	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		120917551	14617196	72	9739										
LPXN	9404	genome.wustl.edu	37	chr11	58318619	58318619	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aggtcctgcaattcctgctcCagacccccaagcattgagtc	8	15	0	2	rs1047979	byFrequency	TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr11:58318619C>A	ENST00000395074.2	-	5	493	c.405G>T	c.(403-405)ctG>ctT	p.L135L	LPXN_ENST00000528954.1_Silent_p.L140L|LPXN_ENST00000528489.1_Silent_p.L115L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	135					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATTCCTGCTCCAGACCCCCAA	0.552																																																	0													108	88	95					11																	58318619		2201	4295	6496	SO:0001819	synonymous_variant	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.405G>T	11.37:g.58318619C>A			B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.L140	ENST00000395074.2	37	c.420	CCDS7969.1	11																																																																																			LPXN	-	pirsf_Leupaxin		0.552	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	C	NM_004811		58318619	-1	no_errors	ENST00000528954	ensembl	human	known	70_37	silent	SNP	1.000	A	A	58318619	C	A	58318619	2	1	62	1	0	0	0	0	0	0	0	1	8952	581	21	4		4	LPXN	11	58318619	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		58318619	76687897	73	9740										
MPEG1	219972	genome.wustl.edu	37	chr11	58980271	58980271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	caacttcgtccatctctcccGaaggcttgcctgatttagcc	7	15	1	1	rs574261219		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr11:58980271G>A	ENST00000361050.3	-	1	153	c.68C>T	c.(67-69)tCg>tTg	p.S23L	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	23						integral component of membrane (GO:0016021)		p.S23L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CATCTCTCCCGAAGGCTTGCC	0.552													g|||	1	0.000199681	0	0	5008	,	,		19028	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											94	97	96					11																	58980271		2010	4165	6175	SO:0001583	missense	219972			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.68C>T	11.37:g.58980271G>A	ENSP00000354335:p.Ser23Leu		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S23L	ENST00000361050.3	37	c.68	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	g	0.470	-0.885119	0.02511	.	.	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.20738	2.05	5.37	0.348	0.16026	.	0.270973	0.29653	N	0.011548	T	0.03564	0.0102	N	0.00408	-1.53	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.02654	T	1	-0.9447	5.6078	0.17389	0.5715:0.1347:0.2937:0.0	.	23	Q2M385	MPEG1_HUMAN	L	23	ENSP00000354335:S23L	ENSP00000354335:S23L	S	-	2	0	MPEG1	58736847	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.304000	0.08199	-0.477000	0.06832	-2.015000	0.00435	TCG	MPEG1	-	NULL		0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	G	NM_001039396		58980271	-1	no_errors	ENST00000361050	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58980271	G	A	58980271	3	1	62	1	0	0	0	0	1	0	0	0	9746	1059	37	1	2086	1	MPEG1	11	58980271	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	661652	58980271	76026245	74	9741										
HNRNPUL2	221092	genome.wustl.edu	37	chr11	62491178	62491178	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atagcggtctttgctcacttGaaaatgcagatccgaggtat	10	8	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr11:62491178G>A	ENST00000301785.5	-	4	964	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	HNRNPUL2-BSCL2_ENST00000403734.2_Nonsense_Mutation_p.Q258*	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	258	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q258*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCTCACTTGAAAATGCAGA	0.458																																																	1	Substitution - Nonsense(1)	cervix(1)											86	82	83					11																	62491178		1856	4101	5957	SO:0001587	stop_gained	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.772C>T	11.37:g.62491178G>A	ENSP00000301785:p.Gln258*		Q8N3B3	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.Q258*	ENST00000301785.5	37	c.772	CCDS41659.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.607664	0.97701	.	.	ENSG00000214753	ENST00000301785	.	.	.	5.09	5.09	0.68999	.	0.122396	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6436	10.9953	0.47571	0.0:0.0:0.8143:0.1857	.	.	.	.	X	258	.	ENSP00000301785:Q258X	Q	-	1	0	HNRNPUL2	62247754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.617000	0.67716	2.659000	0.90383	0.655000	0.94253	CAA	HNRNPUL2	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.458	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	G	XM_495877		62491178	-1	no_errors	ENST00000301785	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	62491178	G	A	62491178	4	1	62	1	0	0	0	0	0	1	0	0	7295	1299	45	1	1515	1	HNRNPUL2	11	62491178	Nonsense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	3510907	62491178	72515338	75	9742										
CCS	9973	genome.wustl.edu	37	chr11	66366699	66366699	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	acggggcggcaggcggtactCaagggcatgggcagcggcca	19	11	1	0	rs377031880		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr11:66366699C>G	ENST00000533244.1	+	3	666	c.225C>G	c.(223-225)ctC>ctG	p.L75L	CCS_ENST00000310190.4_Silent_p.L56L	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	75	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.L75L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGGCGGTACTCAAGGGCATGG	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											62	53	56					11																	66366699		2200	4295	6495	SO:0001819	synonymous_variant	9973			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.225C>G	11.37:g.66366699C>G			Q2M366|Q8NEV0	Silent	SNP	pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom	p.L75	ENST00000533244.1	37	c.225	CCDS8146.1	11																																																																																			CCS	-	superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA		0.607	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCS	HGNC	protein_coding	OTTHUMT00000393826.1	C	NM_005125		66366699	1	no_errors	ENST00000533244	ensembl	human	known	70_37	silent	SNP	1.000	G	G	66366699	C	G	66366699	2	3	62	1	0	0	0	0	0	0	0	1	2957	813	29	1		1	CCS	11	66366699	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	3875521	66366699	68639817	76	9743										
PIWIL4	143689	genome.wustl.edu	37	chr11	94341823	94341823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gacgtgatggttgttggatgCgtggccagtgttaaccccag	15	8	0	1	rs146415204	byFrequency	TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr11:94341823C>T	ENST00000299001.6	+	15	2125	c.1914C>T	c.(1912-1914)tgC>tgT	p.C638C	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	638	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.C638C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGTTGGATGCGTGGCCAGTG	0.388													c|||	2	0.000399361	0	0.0014	5008	,	,		18787	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)						T		4,4398	8.1+/-20.4	0,4,2197	256	225	236		1914	2.2	1	11	dbSNP_134	236	25,8571	17.3+/-56.4	0,25,4273	no	coding-synonymous	PIWIL4	NM_152431.2		0,29,6470	TT,TC,CC		0.2908,0.0909,0.2231		638/853	94341823	29,12969	2201	4298	6499	SO:0001819	synonymous_variant	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1914C>T	11.37:g.94341823C>T			B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.C638	ENST00000299001.6	37	c.1914	CCDS31656.1	11																																																																																			PIWIL4	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.388	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	C	NM_152431		94341823	1	no_errors	ENST00000299001	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94341823	C	T	94341823	2	4	62	1	0	0	0	0	0	0	0	1	11984	776	27	2		2	PIWIL4	11	94341823	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	27975124	94341823	40664693	77	9744										
PHLDB1	23187	genome.wustl.edu	37	chr11	118498318	118498318	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agccttctctccactctcttCaccagccagcagtggaagct	7	16	3	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr11:118498318C>T	ENST00000361417.2	+	7	1190	c.779C>T	c.(778-780)tCa>tTa	p.S260L	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S260L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	260								p.S260L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCACTCTCTTCACCAGCCAGC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											91	100	97					11																	118498318		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.779C>T	11.37:g.118498318C>T	ENSP00000354498:p.Ser260Leu		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S260L	ENST00000361417.2	37	c.779	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709095	0.68615	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000543207;ENST00000356063	T;T	0.35421	1.33;1.31	5.66	5.66	0.87406	.	0.126543	0.56097	D	0.000039	T	0.49253	0.1546	L	0.55481	1.735	0.80722	D	1	D;P;D;P	0.54207	0.965;0.617;0.965;0.941	P;B;P;P	0.55785	0.767;0.173;0.784;0.683	T	0.22661	-1.0210	10	0.26408	T	0.33	-12.8661	17.5299	0.87811	0.0:1.0:0.0:0.0	.	259;260;260;260	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	L	260;19;259;260	ENSP00000354498:S260L;ENSP00000348359:S260L	ENSP00000348359:S260L	S	+	2	0	PHLDB1	118003528	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.206000	0.77891	2.667000	0.90743	0.563000	0.77884	TCA	PHLDB1	-	NULL		0.622	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	C	NM_015157		118498318	1	no_errors	ENST00000361417	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118498318	C	T	118498318	3	4	62	1	0	0	0	0	1	0	0	0	11875	838	29	1	797	1	PHLDB1	11	118498318	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	24156495	118498318	16508198	78	9745										
PZP	5858	genome.wustl.edu	37	chr12	9354941	9354941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atttcgagggcgaaaattttCatccacggagacaacacgga	10	9	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr12:9354941C>T	ENST00000261336.2	-	4	482	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	PZP_ENST00000381997.2_Missense_Mutation_p.E21K	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	152					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E21K(1)|p.E152K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CGAAAATTTTCATCCACGGAG	0.443																																					Melanoma(125;1402 1695 4685 34487 38571)												2	Substitution - Missense(2)	cervix(2)											94	82	86					12																	9354941		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.454G>A	12.37:g.9354941C>T	ENSP00000261336:p.Glu152Lys		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E152K	ENST00000261336.2	37	c.454	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	6.827	0.521822	0.13005	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73681	-0.77;-0.77	2.44	1.53	0.23141	Alpha-2-macroglobulin, N-terminal (1);	0.108809	0.37761	U	0.001946	T	0.66509	0.2796	M	0.62723	1.935	0.19300	N	0.999971	B;B	0.31790	0.34;0.099	B;B	0.40009	0.316;0.05	T	0.51004	-0.8760	10	0.07990	T	0.79	.	4.9811	0.14166	0.0:0.8244:0.0:0.1756	.	21;152	P20742-2;P20742	.;PZP_HUMAN	K	152;21	ENSP00000261336:E152K;ENSP00000371427:E21K	ENSP00000261336:E152K	E	-	1	0	PZP	9246208	0.014000	0.17966	0.718000	0.30602	0.506000	0.33950	-0.139000	0.10358	0.602000	0.29896	0.460000	0.39030	GAA	PZP	-	pfam_A2M_N		0.443	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	C	NM_002864		9354941	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.766	T	T	9354941	C	T	9354941	3	4	62	1	0	0	0	0	1	0	0	0	12899	835	29	1	4126	1	PZP	12	9354941	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		9354941	124496954	79	9746										
ULK1	8408	genome.wustl.edu	37	chr12	132393320	132393320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	acatcctgctgtccaaccccGccggccgccgcgccaacccc	8	23	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr12:132393320G>A	ENST00000321867.4	+	6	799	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCAACCCCGCCGGCCGCCG	0.721																																																	0													20	22	21					12																	132393320		2196	4286	6482	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.448G>A	12.37:g.132393320G>A	ENSP00000324560:p.Ala150Thr		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A150T	ENST00000321867.4	37	c.448	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	G	10.02	1.234916	0.22626	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	T;T;T	0.64991	-0.13;-0.13;-0.13	5.51	2.74	0.32292	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.379278	0.27826	N	0.017698	T	0.38295	0.1035	N	0.12502	0.225	0.21604	N	0.999622	B	0.14012	0.009	B	0.17098	0.017	T	0.18777	-1.0326	10	0.08599	T	0.76	-16.4284	10.7836	0.46393	0.204:0.0:0.796:0.0	.	150	O75385	ULK1_HUMAN	T	150;67;44	ENSP00000324560:A150T;ENSP00000438953:A67T;ENSP00000444983:A44T	ENSP00000324560:A150T	A	+	1	0	ULK1	130959273	0.976000	0.34144	0.004000	0.12327	0.715000	0.41141	2.803000	0.47924	0.308000	0.22923	0.455000	0.32223	GCC	ULK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom		0.721	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	G			132393320	1	no_errors	ENST00000321867	ensembl	human	known	70_37	missense	SNP	0.005	A	A	132393320	G	A	132393320	3	1	62	1	0	0	0	0	1	0	0	0	17006	1087	38	2	470	2	ULK1	12	132393320	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	123038379	132393320	1458575	80	9747										
FRY	10129	genome.wustl.edu	37	chr13	32749764	32749764	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttattcatgtagcagtttcgGattcagtaagtacacatttg	8	6	2	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr13:32749764G>C	ENST00000380250.3	+	20	2912	c.2416G>C	c.(2416-2418)Gat>Cat	p.D806H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	806						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D806H(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCAGTTTCGGATTCAGTAAG	0.378																																																	1	Substitution - Missense(1)	cervix(1)											149	136	140					13																	32749764		1862	4104	5966	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2416G>C	13.37:g.32749764G>C	ENSP00000369600:p.Asp806His		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D806H	ENST00000380250.3	37	c.2416	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843418	0.91197	.	.	ENSG00000073910	ENST00000380250	T	0.26518	1.73	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.53920	-0.8370	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	806	Q5TBA9	FRY_HUMAN	H	806	ENSP00000369600:D806H	ENSP00000369600:D806H	D	+	1	0	FRY	31647764	1.000000	0.71417	0.979000	0.43373	0.967000	0.64934	9.402000	0.97298	2.788000	0.95919	0.650000	0.86243	GAT	FRY	-	superfamily_ARM-type_fold		0.378	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32749764	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32749764	G	C	32749764	3	2	62	1	0	0	0	0	1	0	0	0	6081	1174	41	1	2494	1	FRY	13	32749764	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		32749764	82420114	81	9748										
NUFIP1	26747	genome.wustl.edu	37	chr13	45517691	45517691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cttttctttcggttctcactCttggcttctgaaaaatttct	5	10	5	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr13:45517691C>G	ENST00000379161.4	-	9	1303	c.1257G>C	c.(1255-1257)aaG>aaC	p.K419N		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	419					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)	p.K419N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GGTTCTCACTCTTGGCTTCTG	0.378																																																	1	Substitution - Missense(1)	cervix(1)											102	103	103					13																	45517691		2203	4300	6503	SO:0001583	missense	26747			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1257G>C	13.37:g.45517691C>G	ENSP00000368459:p.Lys419Asn		Q8WVM5|Q96SG1	Missense_Mutation	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K419N	ENST00000379161.4	37	c.1257	CCDS9393.1	13	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928493	0.34002	.	.	ENSG00000083635	ENST00000379161	T	0.49432	0.78	5.72	2.98	0.34508	.	0.735384	0.14092	N	0.341936	T	0.41719	0.1171	M	0.67953	2.075	0.09310	N	1	P	0.44877	0.845	B	0.39379	0.298	T	0.25363	-1.0134	10	0.34782	T	0.22	.	6.3746	0.21501	0.0:0.6832:0.1497:0.167	.	419	Q9UHK0	NUFP1_HUMAN	N	419	ENSP00000368459:K419N	ENSP00000368459:K419N	K	-	3	2	NUFIP1	44415691	0.009000	0.17119	0.105000	0.21289	0.818000	0.46254	-0.076000	0.11412	0.749000	0.32854	0.537000	0.68136	AAG	NUFIP1	-	NULL		0.378	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2	C	NM_012345		45517691	-1	no_errors	ENST00000379161	ensembl	human	known	70_37	missense	SNP	0.015	G	G	45517691	C	G	45517691	3	3	62	1	0	0	0	0	1	0	0	0	10772	912	32	1	238	1	NUFIP1	13	45517691	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	12767927	45517691	69652187	82	9749										
SETDB2	83852	genome.wustl.edu	37	chr13	50034278	50034278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tctggatggagctagaagatGatggaaaagtggacttcatt	13	4	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr13:50034278G>A	ENST00000317257.8	+	3	877	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SETDB2_ENST00000354234.4_Missense_Mutation_p.D18N|SETDB2_ENST00000258672.5_Missense_Mutation_p.D18N	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	18					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.D18N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GCTAGAAGATGATGGAAAAGT	0.343																																																	1	Substitution - Missense(1)	cervix(1)											104	113	110					13																	50034278		2203	4300	6503	SO:0001583	missense	83852			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.52G>A	13.37:g.50034278G>A	ENSP00000326477:p.Asp18Asn		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.D18N	ENST00000317257.8	37	c.52	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629787	0.46944	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.87729	-2.29;-2.26;0.99	5.46	2.76	0.32466	.	0.498174	0.21267	N	0.077381	T	0.75287	0.3829	N	0.24115	0.695	0.38739	D	0.953839	B;B;B	0.17268	0.021;0.015;0.016	B;B;B	0.18871	0.011;0.023;0.01	T	0.66200	-0.5983	10	0.51188	T	0.08	.	4.1842	0.10390	0.0868:0.1573:0.5929:0.163	.	18;18;18	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	N	18	ENSP00000346175:D18N;ENSP00000326477:D18N;ENSP00000258672:D18N	ENSP00000258672:D18N	D	+	1	0	SETDB2	48932279	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.901000	0.28445	0.353000	0.24079	0.655000	0.94253	GAT	SETDB2	-	NULL		0.343	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	G	NM_031915		50034278	1	no_errors	ENST00000317257	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50034278	G	A	50034278	3	1	62	1	0	0	0	0	1	0	0	0	14169	1290	45	1	58	1	SETDB2	13	50034278	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	4516587	50034278	65135600	83	9750										
GPR183	1880	genome.wustl.edu	37	chr13	99948184	99948184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agtatatcagaaatcaccaaAtttgttgaatagagggtggt	10	4	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr13:99948184A>C	ENST00000376414.4	-	2	299	c.216T>G	c.(214-216)aaT>aaG	p.N72K	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	72					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.N72K(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AAATCACCAAATTTGTTGAAT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											116	110	112					13																	99948184		2203	4300	6503	SO:0001583	missense	1880			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.216T>G	13.37:g.99948184A>C	ENSP00000365596:p.Asn72Lys		B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.N72K	ENST00000376414.4	37	c.216	CCDS9492.1	13	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568012	0.65651	.	.	ENSG00000169508	ENST00000376414	T	0.51071	0.72	5.81	-4.57	0.03421	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.97051	3.93	0.45607	D	0.998544	D	0.89917	1.0	D	0.87578	0.998	T	0.82645	-0.0355	9	.	.	.	.	15.6099	0.76707	0.4163:0.0:0.5837:0.0	.	72	P32249	GP183_HUMAN	K	72	ENSP00000365596:N72K	.	N	-	3	2	GPR183	98746185	0.547000	0.26465	0.086000	0.20670	0.989000	0.77384	-0.097000	0.11042	-0.596000	0.05821	0.533000	0.62120	AAT	GPR183	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	HGNC	protein_coding	OTTHUMT00000045582.2	A	NM_004951		99948184	-1	no_errors	ENST00000376414	ensembl	human	known	70_37	missense	SNP	0.796	C	C	99948184	A	C	99948184	3	2	62	1	0	0	0	0	1	0	0	0	6697	98	4	5	873	5	GPR183	13	99948184	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	49913906	99948184	15221694	84	9751										
CUL4A	8451	genome.wustl.edu	37	chr13	113909425	113909425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaataaagatcaatcaaattCagatgaaggaaactgtatgt	8	4	3	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr13:113909425C>G	ENST00000375440.4	+	18	2101	c.2017C>G	c.(2017-2019)Cag>Gag	p.Q673E	CUL4A_ENST00000451881.1_Missense_Mutation_p.Q573E|CUL4A_ENST00000375441.3_Missense_Mutation_p.Q573E|CUL4A_ENST00000326335.4_Missense_Mutation_p.Q573E	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	673					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.Q573E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CAATCAAATTCAGATGAAGGA	0.338																																																	1	Substitution - Missense(1)	cervix(1)											79	84	82					13																	113909425		2203	4300	6503	SO:0001583	missense	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.2017C>G	13.37:g.113909425C>G	ENSP00000364589:p.Gln673Glu		A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q673E	ENST00000375440.4	37	c.2017	CCDS41908.1	13	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356788	0.82243	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.71	5.1	5.1	0.69264	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	H	0.96916	3.905	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.52031	0.688;0.688	D	0.90712	0.4628	10	0.40728	T	0.16	-37.7494	18.8745	0.92329	0.0:1.0:0.0:0.0	.	673;673	Q13619;A8MSH7	CUL4A_HUMAN;.	E	573;573;573;673	ENSP00000364590:Q573E;ENSP00000389118:Q573E;ENSP00000322132:Q573E;ENSP00000364589:Q673E	ENSP00000322132:Q573E	Q	+	1	0	CUL4A	112957426	1.000000	0.71417	0.965000	0.40720	0.904000	0.53231	7.306000	0.78905	2.527000	0.85204	0.462000	0.41574	CAG	CUL4A	-	NULL		0.338	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	C	NM_003589		113909425	1	no_errors	ENST00000375440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113909425	C	G	113909425	3	3	62	1	0	0	0	0	1	0	0	0	4062	827	29	1	2087	1	CUL4A	13	113909425	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	13961241	113909425	1260453	85	9752										
RASA3	22821	genome.wustl.edu	37	chr13	114780743	114780743	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aagatgtcacacatgacggtCgggcagctcaccccagactc	10	14	2	3	rs546150726		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr13:114780743C>G	ENST00000334062.7	-	14	1468	c.1347G>C	c.(1345-1347)ccG>ccC	p.P449P	RASA3_ENST00000389544.4_Silent_p.P417P	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	449	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.P449P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACATGACGGTCGGGCAGCTCA	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											125	108	114					13																	114780743		2203	4300	6503	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1347G>C	13.37:g.114780743C>G			A6NL15|F8W6X8|Q8IUY2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.P449	ENST00000334062.7	37	c.1347	CCDS32016.1	13																																																																																			RASA3	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.617	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	C	NM_007368		114780743	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	silent	SNP	0.128	G	G	114780743	C	G	114780743	2	3	62	1	0	0	0	0	0	0	0	1	13092	871	31	1		1	RASA3	13	114780743	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	871318	114780743	389135	86	9753										
RNASE13	440163	genome.wustl.edu	37	chr14	21502046	21502046	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttgcgggagcagagtaggtaGagcttctggttggttagggt	18	4	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:21502046G>C	ENST00000382951.3	-	2	539	c.402C>G	c.(400-402)ctC>ctG	p.L134L	NDRG2_ENST00000403829.3_Intron|RP11-998D10.1_ENST00000531638.1_3'UTR	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	134						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.L134L(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AGAGTAGGTAGAGCTTCTGGT	0.532																																																	1	Substitution - coding silent(1)	cervix(1)											257	203	221					14																	21502046		2203	4300	6503	SO:0001819	synonymous_variant	440163			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"Ribonucleases, RNase A"	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.402C>G	14.37:g.21502046G>C				Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.L134	ENST00000382951.3	37	c.402	CCDS32039.1	14																																																																																			RNASE13	-	pfam_RNaseA_domain,superfamily_RNaseA_domain		0.532	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE13	HGNC	protein_coding	OTTHUMT00000411744.1	G			21502046	-1	no_errors	ENST00000382951	ensembl	human	known	70_37	silent	SNP	0.952	C	C	21502046	G	C	21502046	2	2	62	1	0	0	0	0	0	0	0	1	13433	929	33	1		1	RNASE13	14	21502046	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		21502046	85847494	87	9754										
MYH7	4625	genome.wustl.edu	37	chr14	23894516	23894516	+	Missense_Mutation	SNP	C	C	T													0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttccagcagctttttgtactCcattctggcgagcacacctc							TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:23894516C>T	ENST00000355349.3	-	21	2560	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	800	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E800K(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTTTTGTACTCCATTCTGGCG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											98	81	87					14																	23894516		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2398G>A	14.37:g.23894516C>T	ENSP00000347507:p.Glu800Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E800K	ENST00000355349.3	37	c.2398	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.674919	0.96764	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95069	-3.6	4.6	4.6	0.57074	.	.	.	.	.	D	0.94742	0.8303	M	0.74389	2.26	0.80722	D	1	P	0.39391	0.671	B	0.43301	0.415	D	0.94352	0.7580	9	0.38643	T	0.18	.	17.9586	0.89078	0.0:1.0:0.0:0.0	.	800	P12883	MYH7_HUMAN	K	800	ENSP00000347507:E800K	ENSP00000347507:E800K	E	-	1	0	MYH7	22964356	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.410000	0.59774	2.543000	0.85770	0.563000	0.77884	GAG	MYH7	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23894516	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23894516	C	T	23894516	3	4	62	1	0	0	0	0	1	0	0	0	10062	864	30	1	3489	1	MYH7	14	23894516	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	2392470	23894516	83455024	88	9755	50	2								
MYH7	4625	genome.wustl.edu	37	chr14	23894521	23894521	+	Missense_Mutation	SNP	C	C	T													0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gcagctttttgtactccattCtggcgagcacacctcgggac							TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:23894521C>T	ENST00000355349.3	-	21	2555	c.2393G>A	c.(2392-2394)aGa>aAa	p.R798K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	798	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R798K(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTACTCCATTCTGGCGAGCAC	0.592																																																	1	Substitution - Missense(1)	cervix(1)											98	81	87					14																	23894521		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2393G>A	14.37:g.23894521C>T	ENSP00000347507:p.Arg798Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R798K	ENST00000355349.3	37	c.2393	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.508914	0.96386	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.96491	-4.03	4.6	4.6	0.57074	.	.	.	.	.	D	0.98030	0.9351	M	0.88450	2.955	0.58432	D	0.999998	P	0.38597	0.639	P	0.53401	0.725	D	0.99376	1.0921	9	0.72032	D	0.01	.	17.9586	0.89078	0.0:1.0:0.0:0.0	.	798	P12883	MYH7_HUMAN	K	798	ENSP00000347507:R798K	ENSP00000347507:R798K	R	-	2	0	MYH7	22964361	0.736000	0.28164	1.000000	0.80357	0.969000	0.65631	7.210000	0.77924	2.543000	0.85770	0.563000	0.77884	AGA	MYH7	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23894521	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23894521	C	T	23894521	3	4	62	1	0	0	0	0	1	0	0	0	10062	913	32	1	3494	1	MYH7	14	23894521	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	5	23894521	83455019	89	9756	50	2								
TRIM9	114088	genome.wustl.edu	37	chr14	51464737	51464737	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tttagatgccacgcagttctCgctctgagggatactgctga	11	10	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:51464737C>T	ENST00000298355.3	-	7	2725				TRIM9_ENST00000338969.5_Intron|TRIM9_ENST00000360392.4_Missense_Mutation_p.R545Q	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9						negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACGCAGTTCTCGCTCTGAGGG	0.557																																																	0													74	59	64					14																	51464737		2203	4300	6503	SO:0001627	intron_variant	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1603+30G>A	14.37:g.51464737C>T			D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R545Q	ENST00000298355.3	37	c.1634	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141497	0.57044	.	.	ENSG00000100505	ENST00000360392	T	0.54279	0.58	6.06	5.0	0.66597	.	.	.	.	.	T	0.37945	0.1022	.	.	.	0.28892	N	0.893781	B	0.20780	0.048	B	0.08055	0.003	T	0.11966	-1.0566	8	0.40728	T	0.16	.	8.8782	0.35358	0.0:0.7448:0.1664:0.0888	.	545	Q9C026-5	.	Q	545	ENSP00000353561:R545Q	ENSP00000353561:R545Q	R	-	2	0	TRIM9	50534487	0.590000	0.26815	1.000000	0.80357	0.999000	0.98932	-0.012000	0.12699	2.882000	0.98803	0.655000	0.94253	CGA	TRIM9	-	NULL		0.557	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51464737	-1	no_errors	ENST00000360392	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51464737	C	T	51464737	1	4	62	0	1	0	0	0	0	0	0	0	16580	884	31	1		1	TRIM9	14	51464737	Intron	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	27570216	51464737	55884803	90	9757										
ABCD4	5826	genome.wustl.edu	37	chr14	74763119	74763119	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atgctgctgagctgccggcaGaatcgctccacgtcctggct	12	14	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:74763119G>T	ENST00000356924.4	-	5	602	c.459C>A	c.(457-459)ttC>ttA	p.F153L	ABCD4_ENST00000557588.1_Missense_Mutation_p.F153L|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.F66L|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	153	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F153L(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCTGCCGGCAGAATCGCTCCA	0.577																																																	1	Substitution - Missense(1)	cervix(1)											100	80	87					14																	74763119		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.459C>A	14.37:g.74763119G>T	ENSP00000349396:p.Phe153Leu		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F153L	ENST00000356924.4	37	c.459	CCDS9828.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.180|5.180	0.218694|0.218694	0.09810|0.09810	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588|ENST00000556971	D;D;D|.	0.99867|.	-7.31;-7.31;-7.31|.	4.82|4.82	2.89|2.89	0.33648|0.33648	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.184107|.	0.50627|.	N|.	0.000105|.	T|T	0.47930|0.47930	0.1472|0.1472	N|N	0.17800|0.17800	0.525|0.525	0.43824|0.43824	D|D	0.996397|0.996397	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.17722|.	0.005;0.019|.	T|T	0.28713|0.28713	-1.0035|-1.0035	10|5	0.37606|.	T|.	0.19|.	.|.	14.3301|14.3301	0.66550|0.66550	0.0:0.4317:0.5683:0.0|0.0:0.4317:0.5683:0.0	.|.	66;153|.	F8W7M4;O14678|.	.;ABCD4_HUMAN|.	L|Y	153;66;153|113	ENSP00000349396:F153L;ENSP00000298816:F66L;ENSP00000451993:F153L|.	ENSP00000298816:F66L|.	F|S	-|-	3|2	2|0	ABCD4|ABCD4	73832872|73832872	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.993000|0.993000	0.82548|0.82548	1.714000|1.714000	0.37961|0.37961	0.555000|0.555000	0.29079|0.29079	0.650000|0.650000	0.86243|0.86243	TTC|TCT	ABCD4	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.577	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	G	NM_005050		74763119	-1	no_errors	ENST00000356924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74763119	G	T	74763119	3	4	62	1	0	0	0	0	1	0	0	0	63	933	33	3	1421	3	ABCD4	14	74763119	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	23298382	74763119	32586421	91	9758										
ZC3H14	79882	genome.wustl.edu	37	chr14	89039043	89039043	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cagatgatctcattgacgaaGacctcaactttgtgcaggag	10	9	2	4			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:89039043G>A	ENST00000251038.5	+	6	778	c.553G>A	c.(553-555)Gac>Aac	p.D185N	ZC3H14_ENST00000555755.1_Missense_Mutation_p.D185N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.D185N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.D185N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.D151N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.D30N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.D151N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.D185N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	185						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D185N(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CATTGACGAAGACCTCAACTT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											168	169	169					14																	89039043		2203	4300	6503	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.553G>A	14.37:g.89039043G>A	ENSP00000251038:p.Asp185Asn		A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.D185N	ENST00000251038.5	37	c.553	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268933	0.80469	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.83	5.83	0.93111	.	0.195357	0.53938	D	0.000054	T	0.78355	0.4270	M	0.64997	1.995	0.47949	D	0.999558	B;D;D;P;D;P	0.89917	0.005;1.0;0.988;0.843;1.0;0.843	B;D;P;P;D;P	0.87578	0.009;0.998;0.836;0.661;0.998;0.661	T	0.75434	-0.3319	9	0.41790	T	0.15	-3.8358	20.106	0.97895	0.0:0.0:1.0:0.0	.	185;166;185;185;185;185	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	N	185;185;185;151;185;166;185;172;30;151;185;185;151	.	ENSP00000251038:D185N	D	+	1	0	ZC3H14	88108796	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.063000	0.89482	2.758000	0.94735	0.655000	0.94253	GAC	ZC3H14	-	NULL		0.433	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	G	NM_024824		89039043	1	no_errors	ENST00000251038	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89039043	G	A	89039043	3	1	62	1	0	0	0	0	1	0	0	0	17596	942	33	1	575	1	ZC3H14	14	89039043	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	14275924	89039043	18310497	92	9759										
FAM181A	90050	genome.wustl.edu	37	chr14	94395423	94395423	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gatgtggacggcctggggcaGaaggtgtgcaggcccgtggt	20	8	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:94395423G>C	ENST00000267594.5	+	3	1285	c.978G>C	c.(976-978)caG>caC	p.Q326H	FAM181A_ENST00000556222.1_Missense_Mutation_p.Q264H|FAM181A_ENST00000557000.2_Missense_Mutation_p.Q264H|FAM181A_ENST00000557719.1_Missense_Mutation_p.Q264H|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	326								p.Q326H(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCCTGGGGCAGAAGGTGTGCA	0.647																																																	1	Substitution - Missense(1)	cervix(1)											32	36	34					14																	94395423		2203	4299	6502	SO:0001583	missense	90050			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.978G>C	14.37:g.94395423G>C	ENSP00000267594:p.Gln326His		B2RD39|Q96GY1	Missense_Mutation	SNP	NULL	p.Q326H	ENST00000267594.5	37	c.978	CCDS9914.1	14	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436744	0.43224	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000557000	T;T;T	0.33216	1.42;1.42;1.42	4.48	1.47	0.22746	.	0.408437	0.19311	N	0.117393	T	0.38427	0.1040	L	0.47716	1.5	0.31587	N	0.654354	D	0.64830	0.994	P	0.62740	0.906	T	0.43491	-0.9388	10	0.72032	D	0.01	0.1113	4.6098	0.12397	0.3537:0.153:0.4933:0.0	.	326	Q8N9Y4	F181A_HUMAN	H	264;326;264;315	ENSP00000451802:Q264H;ENSP00000267594:Q326H;ENSP00000451678:Q264H	ENSP00000267594:Q326H	Q	+	3	2	FAM181A	93465176	1.000000	0.71417	0.993000	0.49108	0.814000	0.46013	1.367000	0.34204	0.011000	0.14865	0.313000	0.20887	CAG	FAM181A	-	NULL		0.647	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	HGNC	protein_coding	OTTHUMT00000412840.1	G	NM_138344		94395423	1	no_errors	ENST00000267594	ensembl	human	known	70_37	missense	SNP	0.999	C	C	94395423	G	C	94395423	3	2	62	1	0	0	0	0	1	0	0	0	5523	933	33	1	984	1	FAM181A	14	94395423	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	5356380	94395423	12954117	93	9760										
SETD3	84193	genome.wustl.edu	37	chr14	99865319	99865319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttgggaagcggagccttttcCtccatctgttggcgatagta	12	9	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:99865319C>T	ENST00000331768.5	-	13	1641	c.1482G>A	c.(1480-1482)gaG>gaA	p.E494E		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	494					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.E494E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GAGCCTTTTCCTCCATCTGTT	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											131	131	131					14																	99865319		2203	4300	6503	SO:0001819	synonymous_variant	84193			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1482G>A	14.37:g.99865319C>T			A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.E494	ENST00000331768.5	37	c.1482	CCDS9951.1	14																																																																																			SETD3	-	superfamily_Rubisco_LSMT_subst-bd		0.502	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	C	NM_032233		99865319	-1	no_errors	ENST00000331768	ensembl	human	known	70_37	silent	SNP	0.996	T	T	99865319	C	T	99865319	2	4	62	1	0	0	0	0	0	0	0	1	14162	680	24	4		4	SETD3	14	99865319	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	5469896	99865319	7484221	94	9761										
YY1	7528	genome.wustl.edu	37	chr14	100705962	100705962	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctgcgcgccgaggacggcttCgaggatcagattctcatccc	12	14	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:100705962C>T	ENST00000262238.4	+	1	641	c.381C>T	c.(379-381)ttC>ttT	p.F127F	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	127	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.F127F(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGGACGGCTTCGAGGATCAGA	0.706																																																	1	Substitution - coding silent(1)	cervix(1)											35	38	37					14																	100705962		2198	4296	6494	SO:0001819	synonymous_variant	7528			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.381C>T	14.37:g.100705962C>T			Q14935	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.F127	ENST00000262238.4	37	c.381	CCDS9957.1	14																																																																																			YY1	-	pirsf_TF_Yin_yang		0.706	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	C	NM_003403		100705962	1	no_errors	ENST00000262238	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100705962	C	T	100705962	2	4	62	1	0	0	0	0	0	0	0	1	17538	883	31	1		1	YY1	14	100705962	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	840643	100705962	6643578	95	9762										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102481656	102481656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tgagggggaggaggccgcttCccccatgctgcaggtacgcc	16	13	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:102481656C>T	ENST00000360184.4	+	35	7393	c.7229C>T	c.(7228-7230)tCc>tTc	p.S2410F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2410	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.S2410F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGGCCGCTTCCCCCATGCTG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											31	29	30					14																	102481656		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7229C>T	14.37:g.102481656C>T	ENSP00000348965:p.Ser2410Phe		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.S2410F	ENST00000360184.4	37	c.7229	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104522	0.77096	.	.	ENSG00000197102	ENST00000360184	T	0.21031	2.03	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.67397	2.05	0.80722	D	1	P	0.44344	0.833	P	0.45167	0.472	T	0.07927	-1.0747	10	0.62326	D	0.03	.	19.5963	0.95541	0.0:1.0:0.0:0.0	.	2410	Q14204	DYHC1_HUMAN	F	2410	ENSP00000348965:S2410F	ENSP00000348965:S2410F	S	+	2	0	DYNC1H1	101551409	1.000000	0.71417	0.980000	0.43619	0.859000	0.49053	7.465000	0.80898	2.648000	0.89879	0.561000	0.74099	TCC	DYNC1H1	-	NULL		0.617	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102481656	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102481656	C	T	102481656	3	4	62	1	0	0	0	0	1	0	0	0	4851	855	30	1	7367	1	DYNC1H1	14	102481656	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1775694	102481656	4867884	96	9763										
AHNAK2	113146	genome.wustl.edu	37	chr14	105417015	105417015	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	acatctatctggggccccttGaggtccactttgggcatctt	10	12	3	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:105417015G>A	ENST00000333244.5	-	7	4892	c.4773C>T	c.(4771-4773)ctC>ctT	p.L1591L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1591						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L1591L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGCCCCTTGAGGTCCACTT	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											116	126	123					14																	105417015		1810	4026	5836	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4773C>T	14.37:g.105417015G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1591	ENST00000333244.5	37	c.4773	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105417015	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.007	A	A	105417015	G	A	105417015	2	1	62	1	0	0	0	0	0	0	0	1	415	1277	45	1		1	AHNAK2	14	105417015	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	2935359	105417015	1932525	97	9764										
NUDT14	256281	genome.wustl.edu	37	chr14	105643016	105643016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aactgtcacccccgctgagcCgggcagggctggctgtagct	14	14	1	1	rs141847132		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr14:105643016C>T	ENST00000392568.2	-	4	376	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	NUDT14_ENST00000550912.1_5'Flank|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	95	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.G95C(1)|p.G95S(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCGCTGAGCCGGGCAGGGCT	0.677										HNSCC(42;0.11)																																							2	Substitution - Missense(2)	cervix(1)|lung(1)						C	SER/GLY	0,4398		0,0,2199	46	45	45		283	3.9	0.4	14	dbSNP_134	45	1,8577	1.2+/-3.3	0,1,4288	no	missense	NUDT14	NM_177533.3	56	0,1,6487	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	95/223	105643016	1,12975	2199	4289	6488	SO:0001583	missense	256281			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.283G>A	14.37:g.105643016C>T	ENSP00000376349:p.Gly95Ser		Q86SJ8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	p.G95S	ENST00000392568.2	37	c.283	CCDS10000.1	14	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701653	0.48307	0.0	1.17E-4	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.92	3.92	0.45320	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.264215	0.35646	N	0.003069	T	0.32585	0.0834	N	0.21194	0.64	0.35713	D	0.816516	P	0.52061	0.95	B	0.42593	0.392	T	0.33904	-0.9850	9	0.27785	T	0.31	-17.3214	11.7227	0.51691	0.0:1.0:0.0:0.0	.	95	O95848	NUD14_HUMAN	S	95	.	ENSP00000376349:G95S	G	-	1	0	NUDT14	104714061	0.973000	0.33851	0.432000	0.26747	0.068000	0.16541	4.405000	0.59741	2.480000	0.83734	0.563000	0.77884	GGC	NUDT14	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase		0.677	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT14	HGNC	protein_coding	OTTHUMT00000074544.4	C	NM_177533		105643016	-1	no_errors	ENST00000392568	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105643016	C	T	105643016	3	4	62	1	0	0	0	0	1	0	0	0	10754	652	23	2	393	2	NUDT14	14	105643016	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	226001	105643016	1706524	98	9765										
TGM5	9333	genome.wustl.edu	37	chr15	43527686	43527686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccttctttaggagagagtgtGatgaacgctgtgtcctgcca	12	9	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr15:43527686G>C	ENST00000220420.5	-	10	1702	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	TGM5_ENST00000349114.4_Missense_Mutation_p.I483M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	565					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.I565M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GAGAGAGTGTGATGAACGCTG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											53	40	45					15																	43527686		2203	4299	6502	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1695C>G	15.37:g.43527686G>C	ENSP00000220420:p.Ile565Met		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I565M	ENST00000220420.5	37	c.1695	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082439	0.20309	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.63744	1.52;-0.06	4.67	3.73	0.42828	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.379291	0.27023	N	0.021319	T	0.51346	0.1669	L	0.45228	1.405	0.32062	N	0.595578	B;B	0.22541	0.027;0.071	B;B	0.31016	0.043;0.123	T	0.54702	-0.8254	10	0.34782	T	0.22	-10.588	6.784	0.23664	0.0979:0.1793:0.7228:0.0	.	483;565	O43548-2;O43548	.;TGM5_HUMAN	M	565;483;564	ENSP00000220420:I565M;ENSP00000220419:I483M	ENSP00000220420:I565M	I	-	3	3	TGM5	41314978	0.907000	0.30839	0.998000	0.56505	0.861000	0.49209	0.550000	0.23345	2.427000	0.82271	0.655000	0.94253	ATC	TGM5	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.552	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	G	NM_004245		43527686	-1	no_errors	ENST00000220420	ensembl	human	known	70_37	missense	SNP	0.996	C	C	43527686	G	C	43527686	3	2	62	1	0	0	0	0	1	0	0	0	15863	1280	45	1	483	1	TGM5	15	43527686	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		43527686	59003706	99	9766										
CATSPER2	117155	genome.wustl.edu	37	chr15	43928408	43928408	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aacactgttaccagggaattCgggaggtccctaaagaaaaa	10	8	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr15:43928408C>T	ENST00000321596.5	-	8	1051	c.852G>A	c.(850-852)ccG>ccA	p.P284P	CATSPER2_ENST00000381761.1_Silent_p.P290P|CATSPER2_ENST00000355438.2_Silent_p.P284P|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000396879.1_Silent_p.P284P|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.P284P			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	284					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.P284P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCAGGGAATTCGGGAGGTCCC	0.418																																																	1	Substitution - coding silent(1)	cervix(1)											51	52	52					15																	43928408		2199	4296	6495	SO:0001819	synonymous_variant	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.852G>A	15.37:g.43928408C>T			Q8NHT9|Q96P54|Q96P55	Silent	SNP	pfam_Ion_trans_dom	p.P284	ENST00000321596.5	37	c.852	CCDS10099.1	15																																																																																			CATSPER2	-	pfam_Ion_trans_dom		0.418	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	C	NM_054020		43928408	-1	no_errors	ENST00000299989	ensembl	human	known	70_37	silent	SNP	0.001	T	T	43928408	C	T	43928408	2	4	62	1	0	0	0	0	0	0	0	1	2693	871	31	1		1	CATSPER2	15	43928408	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	400722	43928408	58602984	100	9767										
FRMD5	84978	genome.wustl.edu	37	chr15	44166325	44166325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aaacttattcacctgttcctCctcgggcccgctgtgcccct	7	17	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr15:44166325C>T	ENST00000417257.1	-	14	1647	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	FRMD5_ENST00000484674.1_Missense_Mutation_p.E397K|FRMD5_ENST00000402883.1_Missense_Mutation_p.E491K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	491						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.E491K(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACCTGTTCCTCCTCGGGCCCG	0.567																																																	1	Substitution - Missense(1)	cervix(1)											125	103	110					15																	44166325		2198	4298	6496	SO:0001583	missense	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1471G>A	15.37:g.44166325C>T	ENSP00000403067:p.Glu491Lys		Q8NBG4	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E491K	ENST00000417257.1	37	c.1471	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	C	3.861	-0.029965	0.07543	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.84370	-1.64;-1.8;-1.84	6.03	4.09	0.47781	.	0.269102	0.36628	N	0.002487	T	0.76716	0.4026	N	0.22421	0.69	0.25736	N	0.985216	B;B;B;B	0.23249	0.082;0.049;0.012;0.01	B;B;B;B	0.21708	0.036;0.016;0.011;0.022	T	0.61417	-0.7067	10	0.29301	T	0.29	.	15.9267	0.79624	0.0:0.4771:0.5229:0.0	.	476;491;491;164	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	K	491;491;457	ENSP00000403067:E491K;ENSP00000384142:E491K;ENSP00000399684:E457K	ENSP00000384142:E491K	E	-	1	0	FRMD5	41953617	0.971000	0.33674	1.000000	0.80357	0.979000	0.70002	1.354000	0.34056	0.815000	0.34398	0.655000	0.94253	GAG	FRMD5	-	NULL		0.567	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	C	NM_032892		44166325	-1	no_errors	ENST00000417257	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44166325	C	T	44166325	3	4	62	1	0	0	0	0	1	0	0	0	6071	864	30	1	245	1	FRMD5	15	44166325	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	237917	44166325	58365067	101	9768										
DMXL2	23312	genome.wustl.edu	37	chr15	51755661	51755661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	taacaaggaaatgccaaagtCgtttgactggaaatgcagaa	10	6	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr15:51755661C>T	ENST00000251076.5	-	33	8125	c.7838G>A	c.(7837-7839)cGa>cAa	p.R2613Q	RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1977Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2614Q|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2613						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R2613Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGCCAAAGTCGTTTGACTGG	0.303																																																	1	Substitution - Missense(1)	cervix(1)											66	73	70					15																	51755661		2195	4289	6484	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7838G>A	15.37:g.51755661C>T	ENSP00000251076:p.Arg2613Gln		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2614Q	ENST00000251076.5	37	c.7841	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.494045	0.96339	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.55930	0.52;0.52;0.49	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.85130	0.997;0.945;0.984;0.996	T	0.80384	-0.1405	10	0.87932	D	0	.	19.0674	0.93117	0.0:1.0:0.0:0.0	.	2614;1977;2613;2614	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2613;2614;1977;158	ENSP00000251076:R2613Q;ENSP00000441858:R2614Q;ENSP00000400855:R1977Q	ENSP00000251076:R2613Q	R	-	2	0	DMXL2	49542953	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.211000	0.77933	2.732000	0.93576	0.557000	0.71058	CGA	DMXL2	-	NULL		0.303	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51755661	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51755661	C	T	51755661	3	4	62	1	0	0	0	0	1	0	0	0	4605	884	31	1	1316	1	DMXL2	15	51755661	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	7589336	51755661	50775731	102	9769										
MESDC2	23184	genome.wustl.edu	37	chr15	81274372	81274372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tctccttctcagtagggcttCctgatacagtgacaaacatc	7	12	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr15:81274372C>T	ENST00000261758.4	-	2	451	c.365G>A	c.(364-366)gGa>gAa	p.G122E		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	122	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.G122E(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AGTAGGGCTTCCTGATACAGT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											157	131	140					15																	81274372		2203	4300	6503	SO:0001583	missense	23184			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.365G>A	15.37:g.81274372C>T	ENSP00000261758:p.Gly122Glu		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	pfam_Mesoderm_development_cand-2	p.G122E	ENST00000261758.4	37	c.365	CCDS32308.1	15	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197887	0.79015	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.78201	0.4246	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.79040	-0.1966	9	0.51188	T	0.08	-0.5172	18.5891	0.91202	0.0:1.0:0.0:0.0	.	122	Q14696	MESD_HUMAN	E	122	.	ENSP00000261758:G122E	G	-	2	0	MESDC2	79061427	1.000000	0.71417	0.359000	0.25824	0.524000	0.34500	7.449000	0.80643	2.379000	0.81126	0.650000	0.86243	GGA	MESDC2	-	pfam_Mesoderm_development_cand-2		0.468	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC2	HGNC	protein_coding	OTTHUMT00000417673.2	C	NM_015154		81274372	-1	no_errors	ENST00000261758	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81274372	C	T	81274372	3	4	62	1	0	0	0	0	1	0	0	0	9504	855	30	1	347	1	MESDC2	15	81274372	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	29518711	81274372	21257020	103	9770										
CCDC78	124093	genome.wustl.edu	37	chr16	773855	773855	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccacacccatgagggcactcActgtggctctgatgttcccc	9	16	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:773855A>G	ENST00000293889.6	-	11	1239		c.e11+1			NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78						cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)		p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GAGGGCACTCACTGTGGCTCT	0.657																																																	1	Unknown(1)	cervix(1)											31	31	31					16																	773855		2174	4286	6460	SO:0001630	splice_region_variant	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1133+1T>C	16.37:g.773855A>G			B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Splice_Site	SNP	-	e11+2	ENST00000293889.6	37	c.1133+2	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	A	11.95	1.793110	0.31685	.	.	ENSG00000162004	ENST00000345165;ENST00000293889	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0791	0.19931	0.877:0.0:0.123:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC78	713856	0.001000	0.12720	0.980000	0.43619	0.044000	0.14063	0.900000	0.28431	1.610000	0.50200	0.379000	0.24179	.	CCDC78	-	-		0.657	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	A	NM_173476	Intron	773855	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	splice_site	SNP	0.989	G	G	773855	A	G	773855	5	3	62	1	0	0	0	0	0	0	1	0	2857	173	6	5	197	5	CCDC78	16	773855	Splice_Site	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08		773855	89580898	104	9771										
SMG1	23049	genome.wustl.edu	37	chr16	18841063	18841063	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	attcacagtattctgatcttCaagtgaacttgatcctacaa	5	9	4	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:18841063C>T	ENST00000446231.2	-	54	9560	c.9148G>A	c.(9148-9150)Gaa>Aaa	p.E3050K	SMG1_ENST00000389467.3_Missense_Mutation_p.E3050K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3050					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E3050K(1)|p.E3046K(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTGATCTTCAAGTGAACTT	0.328																																																	2	Substitution - Missense(2)	cervix(2)											33	32	32					16																	18841063		1817	4081	5898	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9148G>A	16.37:g.18841063C>T	ENSP00000402515:p.Glu3050Lys		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3050K	ENST00000446231.2	37	c.9148	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947758	0.53186	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01113	5.32;5.32	6.07	6.07	0.98685	.	0.160016	0.44483	D	0.000455	T	0.01254	0.0041	N	0.14661	0.345	0.37355	D	0.910978	B	0.26635	0.155	B	0.15870	0.014	T	0.70995	-0.4720	10	0.36615	T	0.2	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	3050	Q96Q15	SMG1_HUMAN	K	3050	ENSP00000402515:E3050K;ENSP00000374118:E3050K	ENSP00000374118:E3050K	E	-	1	0	SMG1	18748564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.853000	0.75435	2.890000	0.99128	0.585000	0.79938	GAA	SMG1	-	NULL		0.328	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18841063	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18841063	C	T	18841063	3	4	62	1	0	0	0	0	1	0	0	0	14825	835	29	1	1877	1	SMG1	16	18841063	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	18067208	18841063	71513690	105	9772										
DNAH3	55567	genome.wustl.edu	37	chr16	20975107	20975107	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaagagtagcttgtccttctCaaacagagaacggcacacgt	10	10	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:20975107C>G	ENST00000261383.3	-	53	10098	c.10099G>C	c.(10099-10101)Gag>Cag	p.E3367Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3367					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)|microtubule motor activity (GO:0003777)	p.E3367Q(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCCTTCTCAAACAGAGAA	0.493																																																	2	Substitution - Missense(2)	cervix(2)											133	105	114					16																	20975107		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10099G>C	16.37:g.20975107C>G	ENSP00000261383:p.Glu3367Gln		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3367Q	ENST00000261383.3	37	c.10099	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305280	0.81247	.	.	ENSG00000158486	ENST00000261383	T	0.68181	-0.31	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91913	0.5541	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3367	Q8TD57	DYH3_HUMAN	Q	3367	ENSP00000261383:E3367Q	ENSP00000261383:E3367Q	E	-	1	0	DNAH3	20882608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	GAG	DNAH3	-	NULL		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20975107	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20975107	C	G	20975107	3	3	62	1	0	0	0	0	1	0	0	0	4613	835	29	1	2290	1	DNAH3	16	20975107	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	2134044	20975107	69379646	106	9773										
UQCRC2	7385	genome.wustl.edu	37	chr16	21994417	21994417	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtttctttaaaggcggcaaaGaagtttgtttctggccagaa	11	6	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:21994417G>A	ENST00000268379.4	+	14	2051	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	UQCRC2_ENST00000561553.1_Missense_Mutation_p.R378K	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	429					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.K429K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AGGCGGCAAAGAAGTTTGTTT	0.338																																					Colon(123;450 1645 12841 25393 45623)												1	Substitution - coding silent(1)	cervix(1)											98	89	92					16																	21994417		2198	4300	6498	SO:0001819	synonymous_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.1287G>A	16.37:g.21994417G>A			B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.R378K	ENST00000268379.4	37	c.1133	CCDS10601.1	16																																																																																			UQCRC2	-	NULL		0.338	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	G	NM_003366		21994417	1	no_errors	ENST00000561553	ensembl	human	putative	70_37	missense	SNP	1.000	A	A	21994417	G	A	21994417	2	1	62	1	0	0	0	0	0	0	0	1	17051	933	33	1		1	UQCRC2	16	21994417	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	1019310	21994417	68360336	107	9774										
LCMT1	51451	genome.wustl.edu	37	chr16	25172470	25172470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atgccgttattggagcagatCtccgagacctgtctgaactg	11	10	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:25172470C>T	ENST00000399069.3	+	6	669	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Intron	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	172	S-adenosyl-L-methionine binding.				C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.L172F(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TGGAGCAGATCTCCGAGACCT	0.348																																					Colon(200;565 2072 24396 47922 50898)												1	Substitution - Missense(1)	cervix(1)											55	53	54					16																	25172470		1846	4099	5945	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.514C>T	16.37:g.25172470C>T	ENSP00000382021:p.Leu172Phe		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.L172F	ENST00000399069.3	37	c.514	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433683	0.62955	.	.	ENSG00000205629	ENST00000399069;ENST00000380962	T	0.27890	1.64	5.83	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78811	-0.2057	10	0.87932	D	0	-15.6313	12.6955	0.57001	0.0:0.9205:0.0:0.0795	.	172	Q9UIC8	LCMT1_HUMAN	F	172;189	ENSP00000382021:L172F	ENSP00000370349:L189F	L	+	1	0	LCMT1	25079971	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	3.042000	0.49815	1.473000	0.48159	0.655000	0.94253	CTC	LCMT1	-	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1		0.348	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	C	NM_016309		25172470	1	no_errors	ENST00000399069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25172470	C	T	25172470	3	4	62	1	0	0	0	0	1	0	0	0	8698	913	32	1	536	1	LCMT1	16	25172470	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	3178053	25172470	65182283	108	9775										
DPEP2	64174	genome.wustl.edu	37	chr16	68026017	68026017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aataggaggcacacatgcggCgtatgaggtcaatctgctcc	12	10	2	1	rs564605320		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:68026017C>T	ENST00000572888.1	-	3	1120	c.470G>A	c.(469-471)cGc>cAc	p.R157H	DPEP2_ENST00000412757.2_Missense_Mutation_p.R157H|DPEP2_ENST00000393847.1_Missense_Mutation_p.R157H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	157					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.R157H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		ACACATGCGGCGTATGAGGTC	0.577													C|||	1	0.000199681	0	0	5008	,	,		21857	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)											128	118	121					16																	68026017		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.470G>A	16.37:g.68026017C>T	ENSP00000458977:p.Arg157His		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R157H	ENST00000572888.1	37	c.470	CCDS10857.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.935|7.935	0.741612|0.741612	0.15642|0.15642	.|.	.|.	ENSG00000167261|ENSG00000167261	ENST00000268795|ENST00000393847;ENST00000412757;ENST00000322384	.|T;T	.|0.23950	.|1.88;1.88	4.77|4.77	-7.87|-7.87	0.01183|0.01183	.|.	.|0.521379	.|0.20118	.|N	.|0.098861	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.25957|0.25957	0.775|0.775	0.09310|0.09310	N|N	0.999998|0.999998	B|B;B	0.12630|0.10296	0.006|0.003;0.001	B|B;B	0.11329|0.15484	0.006|0.013;0.005	T|T	0.24012|0.24012	-1.0172|-1.0172	8|10	0.87932|0.18276	D|T	0|0.48	-2.1282|-2.1282	11.1866|11.1866	0.48660|0.48660	0.0:0.1698:0.1058:0.7244|0.0:0.1698:0.1058:0.7244	.|.	115|157;70	B4DNP7|Q9H4A9;Q9H4A9-2	.|DPEP2_HUMAN;.	T|H	115|157;157;70	.|ENSP00000377430:R157H;ENSP00000412549:R157H	ENSP00000268795:A115T|ENSP00000314702:R70H	A|R	-|-	1|2	0|0	DPEP2|DPEP2	66583518|66583518	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.846000|0.846000	0.48090|0.48090	-1.952000|-1.952000	0.01528|0.01528	-1.274000|-1.274000	0.02421|0.02421	-0.254000|-0.254000	0.11334|0.11334	GCC|CGC	DPEP2	-	pfam_Peptidase_M19		0.577	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	C	NM_022355		68026017	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	0.001	T	T	68026017	C	T	68026017	3	4	62	1	0	0	0	0	1	0	0	0	4724	768	27	2	1022	2	DPEP2	16	68026017	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	42853547	68026017	22328736	109	9776										
NFAT5	10725	genome.wustl.edu	37	chr16	69727754	69727754	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	atgaatcaagagcaacagccCatgcaatttcagagtcagtc	8	10	3	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr16:69727754C>G	ENST00000354436.2	+	12	4290	c.3972C>G	c.(3970-3972)ccC>ccG	p.P1324P	NFAT5_ENST00000349945.1_Silent_p.P1248P|NFAT5_ENST00000567239.1_Silent_p.P1341P|NFAT5_ENST00000393742.2_Silent_p.P1248P|NFAT5_ENST00000566899.1_Silent_p.P1248P|NFAT5_ENST00000432919.1_Silent_p.P1342P	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1324					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1342P(1)|p.P1248P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGCAACAGCCCATGCAATTTC	0.463																																																	2	Substitution - coding silent(2)	cervix(2)											94	89	91					16																	69727754		2198	4300	6498	SO:0001819	synonymous_variant	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3972C>G	16.37:g.69727754C>G			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P1342	ENST00000354436.2	37	c.4026	CCDS10881.1	16																																																																																			NFAT5	-	NULL		0.463	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	C	NM_138714		69727754	1	no_errors	ENST00000432919	ensembl	human	known	70_37	silent	SNP	1.000	G	G	69727754	C	G	69727754	2	3	62	1	0	0	0	0	0	0	0	1	10384	581	21	4		4	NFAT5	16	69727754	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1701737	69727754	20626999	110	9777										
ACAP1	9744	genome.wustl.edu	37	chr17	7253489	7253489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ggggagctgatctgggggctCgagactctgaaggcagggac	19	8	2	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:7253489C>G	ENST00000158762.3	+	20	2211	c.2005C>G	c.(2005-2007)Cga>Gga	p.R669G	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|KCTD11_ENST00000333751.3_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	669	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R669G(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTGGGGGCTCGAGACTCTGA	0.637																																																	1	Substitution - Missense(1)	cervix(1)											75	78	77					17																	7253489		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.2005C>G	17.37:g.7253489C>G	ENSP00000158762:p.Arg669Gly		Q53XN9	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.R669G	ENST00000158762.3	37	c.2005	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466072	0.26335	.	.	ENSG00000072818	ENST00000158762	T	0.68479	-0.33	5.26	4.29	0.51040	Ankyrin repeat-containing domain (3);	1.035270	0.07590	N	0.921741	T	0.63803	0.2542	L	0.58925	1.835	0.24617	N	0.993694	P	0.36354	0.549	B	0.39339	0.297	T	0.52003	-0.8633	10	0.23302	T	0.38	.	7.2639	0.26219	0.0:0.7395:0.171:0.0895	.	669	Q15027	ACAP1_HUMAN	G	669	ENSP00000158762:R669G	ENSP00000158762:R669G	R	+	1	2	ACAP1	7194213	0.004000	0.15560	0.442000	0.26870	0.967000	0.64934	0.863000	0.27913	1.441000	0.47550	0.448000	0.29417	CGA	ACAP1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.637	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	C	NM_014716		7253489	1	no_errors	ENST00000158762	ensembl	human	known	70_37	missense	SNP	0.221	G	G	7253489	C	G	7253489	3	3	62	1	0	0	0	0	1	0	0	0	118	876	31	1	2083	1	ACAP1	17	7253489	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		7253489	73941721	111	9778										
MED9	55090	genome.wustl.edu	37	chr17	17380479	17380479	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cgccgccggtccctgcgcctCaaccgcagcagtcgccggcg	13	20	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:17380479C>G	ENST00000268711.3	+	1	180	c.124C>G	c.(124-126)Caa>Gaa	p.Q42E	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Missense_Mutation_p.Q42E	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	42	Pro-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q42E(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ccctgcgcctcaaccgcagca	0.652																																																	1	Substitution - Missense(1)	cervix(1)											17	17	17					17																	17380479		2200	4294	6494	SO:0001583	missense	55090			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.124C>G	17.37:g.17380479C>G	ENSP00000268711:p.Gln42Glu			Missense_Mutation	SNP	pfam_Mediator_Med9	p.Q42E	ENST00000268711.3	37	c.124	CCDS11184.1	17	.	.	.	.	.	.	.	.	.	.	C	6.662	0.490626	0.12702	.	.	ENSG00000141026	ENST00000268711	.	.	.	5.28	4.27	0.50696	.	0.657798	0.14216	N	0.333717	T	0.25827	0.0629	L	0.27053	0.805	0.09310	N	1	B	0.23316	0.083	B	0.16289	0.015	T	0.18053	-1.0349	9	0.02654	T	1	-15.9447	11.544	0.50681	0.0:0.819:0.181:0.0	.	42	Q9NWA0	MED9_HUMAN	E	42	.	ENSP00000268711:Q42E	Q	+	1	0	MED9	17321204	0.299000	0.24426	0.050000	0.19076	0.555000	0.35460	1.435000	0.34969	1.158000	0.42547	0.591000	0.81541	CAA	MED9	-	NULL		0.652	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED9	HGNC	protein_coding	OTTHUMT00000131669.2	C	NM_018019		17380479	1	no_errors	ENST00000268711	ensembl	human	known	70_37	missense	SNP	0.035	G	G	17380479	C	G	17380479	3	3	62	1	0	0	0	0	1	0	0	0	9477	827	29	1	126	1	MED9	17	17380479	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	10126990	17380479	63814731	112	9779										
MYO18A	399687	genome.wustl.edu	37	chr17	27430627	27430627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gacaactcacccggctcaggCccatgcagcagctgctcttc	9	17	3	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:27430627C>G	ENST00000527372.1	-	21	3677	c.3497G>C	c.(3496-3498)gGc>gCc	p.G1166A	MYO18A_ENST00000531253.1_Missense_Mutation_p.G1166A|MYO18A_ENST00000533112.1_Missense_Mutation_p.G1166A|MYO18A_ENST00000354329.4_Missense_Mutation_p.G1166A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1166	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.G1166A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCGGCTCAGGCCCATGCAGCA	0.662																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	cervix(2)											47	53	51					17																	27430627		2068	4203	6271	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3497G>C	17.37:g.27430627C>G	ENSP00000437073:p.Gly1166Ala		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.G1166A	ENST00000527372.1	37	c.3497	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637045	0.87760	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.31	5.31	0.75309	Myosin head, motor domain (2);	0.100729	0.64402	D	0.000002	D	0.99309	0.9758	M	0.93062	3.375	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0	D	0.98962	1.0798	10	0.66056	D	0.02	.	15.9063	0.79433	0.0:1.0:0.0:0.0	.	835;778;1166;1166;1166	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	A	1166;1166;1166;1166;1166;62;62;778	ENSP00000346291:G1166A;ENSP00000435932:G1166A;ENSP00000434228:G1166A;ENSP00000437073:G1166A	ENSP00000346291:G1166A	G	-	2	0	MYO18A	24454753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.892000	0.75644	2.472000	0.83506	0.462000	0.41574	GGC	MYO18A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.662	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	C	NM_078471		27430627	-1	no_errors	ENST00000354329	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27430627	C	G	27430627	3	3	62	1	0	0	0	0	1	0	0	0	10088	739	26	4	2755	4	MYO18A	17	27430627	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	10050148	27430627	53764583	113	9780										
NF1	4763	genome.wustl.edu	37	chr17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttctatagatctgcctggctCagaattcaccttctacattt	5	11	5	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	16	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(2)|lung(1)											78	86	83					17																	29528441		2203	4295	6498	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1198C>T	17.37:g.29528441C>T	ENSP00000351015:p.Gln400*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Q400*	ENST00000358273.4	37	c.1198	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647345	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	0.119548	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;400;66	.	ENSP00000348498:Q400X	Q	+	1	0	NF1	26552567	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.284000	0.58983	2.412000	0.81896	0.491000	0.48974	CAG	NF1	-	superfamily_ARM-type_fold		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29528441	1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29528441	C	T	29528441	4	4	62	1	0	0	0	0	0	1	0	0	10380	827	29	1	1240	1	NF1	17	29528441	Nonsense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	2097814	29528441	51666769	114	9781										
DDX52	11056	genome.wustl.edu	37	chr17	35986056	35986056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaccttgtgggatgtgcaggCcaggaaaatggaagccagct	15	8	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:35986056C>T	ENST00000349699.2	-	8	1064	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	DDX52_ENST00000394367.3_Missense_Mutation_p.A233T	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	341	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A341T(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GATGTGCAGGCCAGGAAAATG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											147	130	136					17																	35986056		2203	4300	6503	SO:0001583	missense	11056			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1021G>A	17.37:g.35986056C>T	ENSP00000268854:p.Ala341Thr		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A341T	ENST00000349699.2	37	c.1021	CCDS11323.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.211178	0.95069	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.15372	2.43;2.43	5.8	5.8	0.92144	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.108705	0.64402	D	0.000009	T	0.43722	0.1260	M	0.70903	2.155	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.09292	-1.0681	10	0.45353	T	0.12	-6.0194	19.0512	0.93046	0.0:1.0:0.0:0.0	.	341	Q9Y2R4	DDX52_HUMAN	T	341;233	ENSP00000268854:A341T;ENSP00000377893:A233T	ENSP00000268854:A341T	A	-	1	0	DDX52	33060169	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.561000	0.67339	2.741000	0.93983	0.650000	0.86243	GCC	DDX52	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX52	HGNC	protein_coding	OTTHUMT00000256795.1	C	NM_152300		35986056	-1	no_errors	ENST00000349699	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35986056	C	T	35986056	3	4	62	1	0	0	0	0	1	0	0	0	4375	739	26	4	810	4	DDX52	17	35986056	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	6457615	35986056	45209154	115	9782										
PSME3	10197	genome.wustl.edu	37	chr17	40991365	40991365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agaaagaatatatcagccttCggctcatcatatcagagctg	8	9	4	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:40991365C>T	ENST00000590720.1	+	10	885	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	PSME3_ENST00000545225.1_Missense_Mutation_p.R157W|PSME3_ENST00000441946.2_Missense_Mutation_p.R229W|PSME3_ENST00000293362.3_Missense_Mutation_p.R231W|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Missense_Mutation_p.R162W			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)	p.R231W(1)		NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TATCAGCCTTCGGCTCATCAT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											80	77	78					17																	40991365		2203	4300	6503	SO:0001583	missense	10197			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.652C>T	17.37:g.40991365C>T	ENSP00000466794:p.Arg218Trp		A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu	p.R231W	ENST00000590720.1	37	c.691	CCDS45689.1	17	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753032	0.49362	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.54279	0.58;0.58	5.78	4.81	0.61882	Proteasome activator pa28, REG beta subunit (2);	0.112547	0.64402	D	0.000013	T	0.68613	0.3020	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.69654	0.938;0.965;0.965;0.942	T	0.68689	-0.5342	10	0.38643	T	0.18	-26.7237	16.4262	0.83815	0.1325:0.8675:0.0:0.0	.	157;218;218;231	B3KQ25;Q6FHK7;P61289;P61289-2	.;.;PSME3_HUMAN;.	W	157;231;218	ENSP00000441682:R157W;ENSP00000293362:R231W	ENSP00000293362:R231W	R	+	1	2	PSME3	38244891	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	4.823000	0.62694	1.450000	0.47717	-0.277000	0.10078	CGG	PSME3	-	pfam_Proteasome_activ_REG_bsu,superfamily_Proteasome_activ_REG_asu/bsu		0.443	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	C	NM_176863		40991365	1	no_errors	ENST00000293362	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40991365	C	T	40991365	3	4	62	1	0	0	0	0	1	0	0	0	12735	875	31	1	729	1	PSME3	17	40991365	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	5005309	40991365	40203845	116	9783										
TMEM100	55273	genome.wustl.edu	37	chr17	53798408	53798408	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gcctttggggctcccaggatCtccttgatgggctcttcagt	12	12	3	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:53798408C>T	ENST00000575734.1	-	4	832	c.24G>A	c.(22-24)gaG>gaA	p.E8E	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Silent_p.E8E	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	8					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.E8E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CTCCCAGGATCTCCTTGATGG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											104	102	102					17																	53798408		2203	4300	6503	SO:0001819	synonymous_variant	55273			AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.24G>A	17.37:g.53798408C>T			D3DTY7|I3L214|Q96FZ0	Silent	SNP	NULL	p.E8	ENST00000575734.1	37	c.24	CCDS11587.1	17																																																																																			TMEM100	-	NULL		0.498	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM100	HGNC	protein_coding	OTTHUMT00000439266.2	C	NM_018286		53798408	-1	no_errors	ENST00000424486	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53798408	C	T	53798408	2	4	62	1	0	0	0	0	0	0	0	1	16045	912	32	1		1	TMEM100	17	53798408	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	12807043	53798408	27396802	117	9784										
SRP68	6730	genome.wustl.edu	37	chr17	74041399	74041399	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gctttgaacaccagagtcttGaggcctatctctttctggaa	9	10	3	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:74041399G>A	ENST00000307877.2	-	12	1529	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	SRP68_ENST00000539137.1_Silent_p.L418L|SRP68_ENST00000355113.5_Silent_p.L355L|SRP68_ENST00000602720.1_Silent_p.L117L|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	456					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.L456L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCAGAGTCTTGAGGCCTATCT	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											96	86	90					17																	74041399		2203	4297	6500	SO:0001819	synonymous_variant	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1368C>T	17.37:g.74041399G>A			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	NULL	p.L456	ENST00000307877.2	37	c.1368	CCDS11738.1	17																																																																																			SRP68	-	NULL		0.483	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	G	NM_014230		74041399	-1	no_errors	ENST00000307877	ensembl	human	known	70_37	silent	SNP	0.985	A	A	74041399	G	A	74041399	2	1	62	1	0	0	0	0	0	0	0	1	15186	1277	45	1		1	SRP68	17	74041399	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	20242991	74041399	7153811	118	9785										
SPHK1	8877	genome.wustl.edu	37	chr17	74383215	74383215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tggtccagcagggcccggtaGatgcacaccttgtgccactg	13	13	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:74383215G>C	ENST00000545180.1	+	8	1512	c.703G>C	c.(703-705)Gat>Cat	p.D235H	SPHK1_ENST00000590959.1_Missense_Mutation_p.D249H|SPHK1_ENST00000392496.3_Missense_Mutation_p.D235H|SPHK1_ENST00000323374.4_Missense_Mutation_p.D321H|SPHK1_ENST00000592299.1_Missense_Mutation_p.D235H			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	235					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)	p.D321H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GGGCCCGGTAGATGCACACCT	0.642																																					GBM(90;966 1307 27369 33775 44498)												1	Substitution - Missense(1)	cervix(1)											52	41	45					17																	74383215		2203	4300	6503	SO:0001583	missense	8877			BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.703G>C	17.37:g.74383215G>C	ENSP00000440970:p.Asp235His		Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.D321H	ENST00000545180.1	37	c.961	CCDS45785.1	17	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503487	0.44558	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.26373	1.83;1.74;1.83	5.08	2.98	0.34508	.	0.104301	0.64402	D	0.000006	T	0.43233	0.1238	M	0.76574	2.34	0.54753	D	0.999984	D;P;D	0.64830	0.987;0.904;0.994	P;P;P	0.59643	0.847;0.608;0.861	T	0.27571	-1.0070	10	0.51188	T	0.08	-20.7489	10.1874	0.43006	0.1752:0.0:0.8248:0.0	.	321;249;235	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	H	235;321;235;234	ENSP00000440970:D235H;ENSP00000313681:D321H;ENSP00000376285:D235H	ENSP00000313681:D321H	D	+	1	0	SPHK1	71894810	1.000000	0.71417	0.003000	0.11579	0.070000	0.16714	5.727000	0.68523	0.456000	0.26937	0.563000	0.77884	GAT	SPHK1	-	NULL		0.642	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPHK1	HGNC	protein_coding	OTTHUMT00000450113.1	G	NM_182965, NM_021972		74383215	1	no_errors	ENST00000323374	ensembl	human	known	70_37	missense	SNP	0.958	C	C	74383215	G	C	74383215	3	2	62	1	0	0	0	0	1	0	0	0	15076	942	33	1	1025	1	SPHK1	17	74383215	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	341816	74383215	6811995	119	9786										
CBX4	8535	genome.wustl.edu	37	chr17	77807985	77807985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctggagggagctgggcggctCcccggcctcgctgcgcgtct	17	15	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr17:77807985C>T	ENST00000269397.4	-	5	1633	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	486	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E486K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGGCGGCTCCCCGGCCTCG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											11	15	13					17																	77807985		2063	4084	6147	SO:0001583	missense	8535			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1456G>A	17.37:g.77807985C>T	ENSP00000269397:p.Glu486Lys		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.E486K	ENST00000269397.4	37	c.1456	CCDS32758.1	17	.	.	.	.	.	.	.	.	.	.	c	13.95	2.390297	0.42410	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.3	3.3	0.37823	.	1.686940	0.04796	U	0.432531	T	0.49609	0.1567	L	0.36672	1.1	0.80722	D	1	B	0.31318	0.319	B	0.26310	0.068	T	0.44329	-0.9335	9	0.62326	D	0.03	0.4137	9.9504	0.41636	0.0:1.0:0.0:0.0	.	486	O00257	CBX4_HUMAN	K	486;216	.	ENSP00000269397:E486K	E	-	1	0	CBX4	75422580	0.006000	0.16342	0.602000	0.28890	0.507000	0.33981	1.581000	0.36558	1.686000	0.51046	0.306000	0.20318	GAG	CBX4	-	NULL		0.721	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1	C	NM_003655		77807985	-1	no_errors	ENST00000269397	ensembl	human	known	70_37	missense	SNP	0.257	T	T	77807985	C	T	77807985	3	4	62	1	0	0	0	0	1	0	0	0	2725	864	30	1	230	1	CBX4	17	77807985	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	3424770	77807985	3387225	120	9787										
KIAA0802	23255	genome.wustl.edu	37	chr18	8784515	8784515	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agcggctagagcggacggtgGagcgcctcatcacggacacc	15	13	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr18:8784515G>C	ENST00000306329.11	+	5	2485	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.E469Q|SOGA2_ENST00000400050.3_Missense_Mutation_p.E469Q|SOGA2_ENST00000359865.3_Missense_Mutation_p.E469Q																							GCGGACGGTGGAGCGCCTCAT	0.682																																																	0													76	89	84					18																	8784515		2203	4300	6503	SO:0001583	missense	23255																														ENST00000306329.11:c.2485G>C	18.37:g.8784515G>C	ENSP00000305027:p.Glu829Gln			Missense_Mutation	SNP	pfam_DUF3166	p.E469Q	ENST00000306329.11	37	c.1405		18	.	.	.	.	.	.	.	.	.	.	G	9.064	0.995331	0.19043	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.42131	0.98;0.98;0.98	5.31	5.31	0.75309	.	0.000000	0.45867	D	0.000340	T	0.58366	0.2117	L	0.58101	1.795	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.63703	0.719;0.917	T	0.50617	-0.8807	10	0.18710	T	0.47	-32.222	18.9661	0.92697	0.0:0.0:1.0:0.0	.	490;469	A8MQ54;Q9Y4B5-3	.;.	Q	490;469;469;469	ENSP00000429556:E469Q;ENSP00000352927:E469Q;ENSP00000382924:E469Q	ENSP00000305027:E490Q	E	+	1	0	CCDC165	8774515	1.000000	0.71417	0.999000	0.59377	0.040000	0.13550	7.737000	0.84957	2.483000	0.83821	0.591000	0.81541	GAG	SOGA2	-	NULL		0.682	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	G			8784515	1	no_errors	ENST00000359865	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8784515	G	C	8784515	3	2	62	1	0	0	0	0	1	0	0	0	8214	1175	41	1	1419	1	KIAA0802	18	8784515	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		8784515	69292733	121	9788										
GADD45B	4616	genome.wustl.edu	37	chr19	2477087	2477087	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gaggaggaggaggatgacatCgccctgcaaatccacttcac	12	11	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:2477087C>T	ENST00000215631.4	+	3	439	c.207C>T	c.(205-207)atC>atT	p.I69I	GADD45B_ENST00000587345.1_Silent_p.I69I	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	69					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I69I(1)		cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATGACATCGCCCTGCAAA	0.622											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	cervix(1)											109	84	92					19																	2477087		2203	4300	6503	SO:0001819	synonymous_variant	4616			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.207C>T	19.37:g.2477087C>T		603	A8KAM2|O75960|Q17R46	Silent	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.I69	ENST00000215631.4	37	c.207	CCDS32868.1	19																																																																																			GADD45B	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.622	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45B	HGNC	protein_coding	OTTHUMT00000451337.1	C	NM_015675		2477087	1	no_errors	ENST00000215631	ensembl	human	known	70_37	silent	SNP	0.999	T	T	2477087	C	T	2477087	2	4	62	1	0	0	0	0	0	0	0	1	6200	874	31	1		1	GADD45B	19	2477087	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		2477087	56651896	122	9789										
JUNB	3726	genome.wustl.edu	37	chr19	12903536	12903536	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tcgagtaccgccggcctcctCcgggagcaggtggcccagct	14	16	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:12903536C>T	ENST00000302754.4	+	1	1227	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	317	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L317L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCGGCCTCCTCCGGGAGCAGG	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											25	25	25					19																	12903536		2200	4299	6499	SO:0001819	synonymous_variant	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.951C>T	19.37:g.12903536C>T			Q96GH3	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.L317	ENST00000302754.4	37	c.951	CCDS12280.1	19																																																																																			JUNB	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun		0.652	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	C	NM_002229		12903536	1	no_errors	ENST00000302754	ensembl	human	known	70_37	silent	SNP	0.986	T	T	12903536	C	T	12903536	2	4	62	1	0	0	0	0	0	0	0	1	7990	842	30	1		1	JUNB	19	12903536	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	10426449	12903536	46225447	123	9790										
DNAJB1	3337	genome.wustl.edu	37	chr19	14627324	14627324	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aaatgacatcagagccatctCtcttaaagatattgtggggc	9	8	3	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:14627324C>T	ENST00000254322.2	-	2	816	c.746G>A	c.(745-747)aGa>aAa	p.R249K	DNAJB1_ENST00000396969.4_Missense_Mutation_p.R149K	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	249					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.R249K(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		AGAGCCATCTCTCTTAAAGAT	0.498																																																	1	Substitution - Missense(1)	cervix(1)											69	70	69					19																	14627324		2203	4300	6503	SO:0001583	missense	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.746G>A	19.37:g.14627324C>T	ENSP00000254322:p.Arg249Lys		B4DX52	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R249K	ENST00000254322.2	37	c.746	CCDS12312.1	19	.	.	.	.	.	.	.	.	.	.	c	35	5.483348	0.96307	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.51325	0.71;0.71	5.19	5.19	0.71726	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.79868	0.4520	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87268	0.2284	10	0.87932	D	0	.	16.1947	0.82018	0.0:1.0:0.0:0.0	.	249	P25685	DNJB1_HUMAN	K	249;149	ENSP00000254322:R249K;ENSP00000444212:R149K	ENSP00000254322:R249K	R	-	2	0	DNAJB1	14488324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.657000	0.83745	2.424000	0.82194	0.561000	0.74099	AGA	DNAJB1	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd		0.498	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1	C	NM_006145		14627324	-1	no_errors	ENST00000254322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14627324	C	T	14627324	3	4	62	1	0	0	0	0	1	0	0	0	4625	913	32	1	284	1	DNAJB1	19	14627324	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1723788	14627324	44501659	124	9791										
DNAJB1	3337	genome.wustl.edu	37	chr19	14627859	14627859	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ggggccactcccctttaggcCtgaaaagcagatttagaagc	11	11	0	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:14627859C>T	ENST00000254322.2	-	2	282		c.e2-1		DNAJB1_ENST00000396969.4_Splice_Site	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1						chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.?(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCCTTTAGGCCTGAAAAGCAG	0.547																																																	1	Unknown(1)	cervix(1)											37	40	39					19																	14627859		2193	4292	6485	SO:0001630	splice_region_variant	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.212-1G>A	19.37:g.14627859C>T			B4DX52	Splice_Site	SNP	-	e2-1	ENST00000254322.2	37	c.212-1	CCDS12312.1	19	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897735	0.52227	.	.	ENSG00000132002	ENST00000254322	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7596	0.69596	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJB1	14488859	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.360000	0.79487	2.063000	0.61619	0.511000	0.50034	.	DNAJB1	-	-		0.547	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1	C	NM_006145	Intron	14627859	-1	no_errors	ENST00000254322	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	14627859	C	T	14627859	5	4	62	1	0	0	0	0	0	0	1	0	4625	695	24	4	819	4	DNAJB1	19	14627859	Splice_Site	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	535	14627859	44501124	125	9792										
USHBP1	83878	genome.wustl.edu	37	chr19	17374921	17374921	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gagctcccactggctgcctcGacctcctctgaactctcagc	8	18	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:17374921G>A	ENST00000252597.3	-	3	266	c.93C>T	c.(91-93)gtC>gtT	p.V31V	USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.V31V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGGCTGCCTCGACCTCCTCTG	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											34	36	35					19																	17374921		2203	4300	6503	SO:0001819	synonymous_variant	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.93C>T	19.37:g.17374921G>A				Silent	SNP	pfam_USH1C-bd_PDZ_domain	p.V31	ENST00000252597.3	37	c.93	CCDS12353.1	19																																																																																			USHBP1	-	NULL		0.677	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	G	NM_031941		17374921	-1	no_errors	ENST00000252597	ensembl	human	known	70_37	silent	SNP	0.000	A	A	17374921	G	A	17374921	2	1	62	1	0	0	0	0	0	0	0	1	17068	1045	37	1		1	USHBP1	19	17374921	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	2747062	17374921	41754062	126	9793										
ZNF14	7561	genome.wustl.edu	37	chr19	19823848	19823848	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gcatctggctagtggtttctCcacatttgctacctcttcta	7	12	4	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:19823848C>G	ENST00000344099.3	-	4	380	c.242G>C	c.(241-243)gGa>gCa	p.G81A		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81A(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AGTGGTTTCTCCACATTTGCT	0.348																																																	1	Substitution - Missense(1)	cervix(1)											118	111	113					19																	19823848		2203	4300	6503	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.242G>C	19.37:g.19823848C>G	ENSP00000340514:p.Gly81Ala		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G81A	ENST00000344099.3	37	c.242	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	6.118	0.389941	0.11581	.	.	ENSG00000105708	ENST00000344099	T	0.05447	3.44	1.67	-1.15	0.09709	.	.	.	.	.	T	0.10465	0.0256	M	0.87682	2.9	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31336	-0.9947	9	0.72032	D	0.01	.	4.3469	0.11138	0.0:0.5786:0.0:0.4214	.	81	P17017	ZNF14_HUMAN	A	81	ENSP00000340514:G81A	ENSP00000340514:G81A	G	-	2	0	ZNF14	19684848	0.996000	0.38824	0.000000	0.03702	0.008000	0.06430	0.450000	0.21762	-0.408000	0.07565	0.460000	0.39030	GGA	ZNF14	-	NULL		0.348	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	C	NM_021030		19823848	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	missense	SNP	0.006	G	G	19823848	C	G	19823848	3	3	62	1	0	0	0	0	1	0	0	0	17758	855	30	1	1690	1	ZNF14	19	19823848	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	2448927	19823848	39305135	127	9794										
ZNF14	7561	genome.wustl.edu	37	chr19	19825240	19825240	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tttttctgtgaagaatccagCaaagcccactcctccagggt	8	12	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:19825240C>G	ENST00000344099.3	-	2	198	c.60G>C	c.(58-60)ttG>ttC	p.L20F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L20F(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGAATCCAGCAAAGCCCACT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											102	98	99					19																	19825240		2203	4300	6503	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.60G>C	19.37:g.19825240C>G	ENSP00000340514:p.Leu20Phe		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L20F	ENST00000344099.3	37	c.60	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484249	0.44147	.	.	ENSG00000105708	ENST00000344099	T	0.02177	4.41	2.1	-3.49	0.04724	Krueppel-associated box (4);	.	.	.	.	T	0.06872	0.0175	M	0.79258	2.445	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30268	-0.9984	9	0.27082	T	0.32	.	0.4649	0.00522	0.2305:0.301:0.272:0.1965	.	20	P17017	ZNF14_HUMAN	F	20	ENSP00000340514:L20F	ENSP00000340514:L20F	L	-	3	2	ZNF14	19686240	0.000000	0.05858	0.573000	0.28510	0.991000	0.79684	-0.178000	0.09782	-0.368000	0.08040	0.467000	0.42956	TTG	ZNF14	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.448	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	C	NM_021030		19825240	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	missense	SNP	0.060	G	G	19825240	C	G	19825240	3	3	62	1	0	0	0	0	1	0	0	0	17758	709	25	4	1880	4	ZNF14	19	19825240	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1392	19825240	39303743	128	9795										
ZNF540	163255	genome.wustl.edu	37	chr19	38103818	38103818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	agaacatctgaaaattcattCtggtttaaaaccctatgact	5	8	3	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:38103818C>T	ENST00000592533.1	+	5	1969	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	ZNF540_ENST00000589117.1_Missense_Mutation_p.S514F|ZNF540_ENST00000316433.4_Missense_Mutation_p.S546F|ZNF540_ENST00000343599.5_Missense_Mutation_p.S546F	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	546					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S546F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAATTCATTCTGGTTTAAAA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											84	94	91					19																	38103818		2203	4300	6503	SO:0001583	missense	163255			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1637C>T	19.37:g.38103818C>T	ENSP00000466274:p.Ser546Phe		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S546F	ENST00000592533.1	37	c.1637	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927660	0.92389	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.19806	2.12	2.39	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39091	0.1065	M	0.65320	2	0.32086	N	0.592537	D;D	0.65815	0.994;0.995	P;D	0.63703	0.808;0.917	T	0.51116	-0.8746	9	0.72032	D	0.01	.	11.8424	0.52361	0.0:1.0:0.0:0.0	.	514;546	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	F	546;514	ENSP00000324598:S546F	ENSP00000324598:S546F	S	+	2	0	ZNF540	42795658	0.000000	0.05858	0.003000	0.11579	0.979000	0.70002	0.113000	0.15499	1.313000	0.45069	0.305000	0.20034	TCT	ZNF540	-	pfscan_Znf_C2H2		0.393	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	C	NM_152606		38103818	1	no_errors	ENST00000316433	ensembl	human	known	70_37	missense	SNP	0.998	T	T	38103818	C	T	38103818	3	4	62	1	0	0	0	0	1	0	0	0	18005	913	32	1	1651	1	ZNF540	19	38103818	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	18278578	38103818	21025165	129	9796										
SFRS16	11129	genome.wustl.edu	37	chr19	45571722	45571722	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctgaaactgaggatgcagaaGgcgctgaacaggcagtgtat	14	7	0	4			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:45571722G>C	ENST00000221455.3	+	16	1850	c.1752G>C	c.(1750-1752)aaG>aaC	p.K584N	CLASRP_ENST00000544944.2_Intron|CLASRP_ENST00000391953.4_Missense_Mutation_p.K522N	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	584	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.K584N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGATGCAGAAGGCGCTGAACA	0.602																																																	1	Substitution - Missense(1)	cervix(1)											111	94	100					19																	45571722		2203	4300	6503	SO:0001583	missense	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1752G>C	19.37:g.45571722G>C	ENSP00000221455:p.Lys584Asn		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	pfam_SWAP_N_domain	p.K584N	ENST00000221455.3	37	c.1752	CCDS12652.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536499|3.536499	0.65085|0.65085	.|.	.|.	ENSG00000104859|ENSG00000104859	ENST00000391952|ENST00000221455;ENST00000391953	T|T;T	0.33654|0.21932	1.4|1.98;1.98	5.44|5.44	3.27|3.27	0.37495|0.37495	.|.	.|0.000000	.|0.37857	.|U	.|0.001915	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.981	.|D;D	.|0.78314	.|0.991;0.95	T|T	0.05451|0.05451	-1.0884|-1.0884	7|10	0.87932|0.22109	D|T	0|0.4	-30.7299|-30.7299	7.6123|7.6123	0.28137|0.28137	0.2036:0.0:0.7964:0.0|0.2036:0.0:0.7964:0.0	.|.	.|522;584	.|F8WAG9;Q8N2M8	.|.;CLASR_HUMAN	R|N	586|584;522	ENSP00000375814:G586R|ENSP00000221455:K584N;ENSP00000375815:K522N	ENSP00000375814:G586R|ENSP00000221455:K584N	G|K	+|+	1|3	0|2	CLASRP|CLASRP	50263562|50263562	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	1.436000|1.436000	0.34980|0.34980	0.630000|0.630000	0.30394|0.30394	0.561000|0.561000	0.74099|0.74099	GGC|AAG	CLASRP	-	NULL		0.602	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	G	NM_007056		45571722	1	no_errors	ENST00000221455	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45571722	G	C	45571722	3	2	62	1	0	0	0	0	1	0	0	0	14202	991	35	4	1810	4	SFRS16	19	45571722	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	7467904	45571722	13557261	130	9797										
IGFL4	444882	genome.wustl.edu	37	chr19	46543814	46543814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ttgaacccaaaagttcaaaaAtgaagatggcagctgagaag	10	6	1	4			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:46543814A>G	ENST00000377697.1	-	2	85	c.32T>C	c.(31-33)aTt>aCt	p.I11T	IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	11						extracellular space (GO:0005615)		p.I11T(1)		cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AAGTTCAAAAATGAAGATGGC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											111	96	101					19																	46543814		2203	4300	6503	SO:0001583	missense	444882			AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.32T>C	19.37:g.46543814A>G	ENSP00000366926:p.Ile11Thr			Missense_Mutation	SNP	NULL	p.I11T	ENST00000377697.1	37	c.32	CCDS33057.1	19	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613877	0.28712	.	.	ENSG00000204869	ENST00000377697	T	0.27890	1.64	2.22	-0.0452	0.13852	.	2.051440	0.03135	U	0.165746	T	0.22322	0.0538	L	0.32530	0.975	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.26292	-1.0107	10	0.72032	D	0.01	.	1.8386	0.03145	0.5526:0.0:0.1723:0.2751	.	11	Q6B9Z1	IGFL4_HUMAN	T	11	ENSP00000366926:I11T	ENSP00000366926:I11T	I	-	2	0	IGFL4	51235654	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.467000	0.22035	-0.071000	0.12886	0.327000	0.21459	ATT	IGFL4	-	NULL		0.498	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFL4	HGNC	protein_coding	OTTHUMT00000461698.1	A	NM_001002923		46543814	-1	no_errors	ENST00000377697	ensembl	human	known	70_37	missense	SNP	0.000	G	G	46543814	A	G	46543814	3	3	62	1	0	0	0	0	1	0	0	0	7609	101	4	5	354	5	IGFL4	19	46543814	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08	972092	46543814	12585169	131	9798										
FGF21	26291	genome.wustl.edu	37	chr19	49260187	49260187	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cgctttcaccccttaggtctCctgcagctgaaagccttgaa	8	14	2	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:49260187C>G	ENST00000593756.1	+	3	812	c.240C>G	c.(238-240)ctC>ctG	p.L80L	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.L80L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	80					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.L80L(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCTTAGGTCTCCTGCAGCTGA	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											118	120	120					19																	49260187		2203	4300	6503	SO:0001819	synonymous_variant	26291			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.240C>G	19.37:g.49260187C>G			Q8N683	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF	p.L80	ENST00000593756.1	37	c.240	CCDS12734.1	19																																																																																			FGF21	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21		0.597	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF21	HGNC	protein_coding	OTTHUMT00000466200.1	C			49260187	1	no_errors	ENST00000222157	ensembl	human	known	70_37	silent	SNP	0.986	G	G	49260187	C	G	49260187	2	3	62	1	0	0	0	0	0	0	0	1	5868	842	30	1		1	FGF21	19	49260187	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	2716373	49260187	9868796	132	9799										
AP2A1	160	genome.wustl.edu	37	chr19	50295238	50295238	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtgcggccctgtgcctccttCgactgtacaaggcctcgcct	11	16	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:50295238C>T	ENST00000359032.5	+	5	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Nonsense_Mutation_p.R174*	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	174					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.R174*(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTGCCTCCTTCGACTGTACAA	0.647																																																	2	Substitution - Nonsense(2)	cervix(2)											72	79	77					19																	50295238		2173	4259	6432	SO:0001587	stop_gained	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.520C>T	19.37:g.50295238C>T	ENSP00000351926:p.Arg174*		Q96CI7|Q96PP6|Q96PP7|Q9H070	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.R174*	ENST00000359032.5	37	c.520	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758674	0.89843	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2428	0.54553	0.1702:0.8298:0.0:0.0	.	.	.	.	X	174	.	ENSP00000346246:R174X	R	+	1	2	AP2A1	54987050	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.022000	0.49659	2.334000	0.79466	0.655000	0.94253	CGA	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.647	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	C			50295238	1	no_errors	ENST00000354293	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	50295238	C	T	50295238	4	4	62	1	0	0	0	0	0	1	0	0	739	876	31	1	538	1	AP2A1	19	50295238	Nonsense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1035051	50295238	8833745	133	9800										
U2AF2	11338	genome.wustl.edu	37	chr19	56180459	56180459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ccaaacacaggccattgcggGgctgaacggcatgcagctgg	14	12	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr19:56180459G>T	ENST00000308924.4	+	10	996	c.956G>T	c.(955-957)gGg>gTg	p.G319V	U2AF2_ENST00000450554.2_Missense_Mutation_p.G319V|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.G155V			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	319	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G319V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCCATTGCGGGGCTGAACGGC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											35	36	36					19																	56180459		2203	4300	6503	SO:0001583	missense	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.956G>T	19.37:g.56180459G>T	ENSP00000307863:p.Gly319Val		Q96HC5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.G319V	ENST00000308924.4	37	c.956	CCDS12933.1	19	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716795	0.68844	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.16324	2.35;2.35	3.63	2.54	0.30619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.955	T	0.35919	-0.9769	10	0.66056	D	0.02	-23.8284	11.2469	0.49002	0.0:0.0:0.8151:0.1849	.	319;319	P26368;P26368-2	U2AF2_HUMAN;.	V	319	ENSP00000307863:G319V;ENSP00000388475:G319V	ENSP00000307863:G319V	G	+	2	0	U2AF2	60872271	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	8.789000	0.91839	0.841000	0.35020	0.591000	0.81541	GGG	U2AF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg		0.662	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	HGNC	protein_coding	OTTHUMT00000453599.1	G	NM_007279		56180459	1	no_errors	ENST00000308924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56180459	G	T	56180459	3	4	62	1	0	0	0	0	1	0	0	0	16854	1232	43	4	994	4	U2AF2	19	56180459	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	5885221	56180459	2948524	134	9801										
C20orf160	140706	genome.wustl.edu	37	chr20	30610588	30610588	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	acacctgaacggccatggctCtgcagccgcagtgagtacca	11	14	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr20:30610588C>T	ENST00000300415.8	+	6	1072	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	CCM2L_ENST00000262659.8_Silent_p.L353L			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	353																	GGCCATGGCTCTGCAGCCGCA	0.567																																																	0													71	54	60					20																	30610588		2203	4300	6503	SO:0001819	synonymous_variant	140706			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1059C>T	20.37:g.30610588C>T			Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	NULL	p.L353	ENST00000300415.8	37	c.1059		20																																																																																			CCM2L	-	NULL		0.567	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCM2L	HGNC	protein_coding		C	NM_080625		30610588	1	no_errors	ENST00000300415	ensembl	human	known	70_37	silent	SNP	0.985	T	T	30610588	C	T	30610588	2	4	62	1	0	0	0	0	0	0	0	1	2098	900	32	1		1	C20orf160	20	30610588	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		30610588	32414932	135	9802										
STX16	8675	genome.wustl.edu	37	chr20	57244413	57244413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cccgggcctgctccgagcagGaggggcggctgcttgggaac	18	13	0	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr20:57244413G>C	ENST00000371141.4	+	5	1184	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	STX16_ENST00000361830.3_Missense_Mutation_p.E154Q|STX16_ENST00000371132.4_Missense_Mutation_p.E133Q|STX16_ENST00000355957.5_Missense_Mutation_p.E137Q|STX16_ENST00000496003.1_Intron|STX16_ENST00000361770.5_Missense_Mutation_p.E137Q|STX16_ENST00000359617.4_Missense_Mutation_p.E101Q|STX16_ENST00000358029.4_Missense_Mutation_p.E150Q|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.E154Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	154					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.E133Q(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTCCGAGCAGGAGGGGCGGCT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											17	21	19					20																	57244413		2184	4257	6441	SO:0001583	missense	100534593			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.460G>C	20.37:g.57244413G>C	ENSP00000360183:p.Glu154Gln		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E154Q	ENST00000371141.4	37	c.460	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.732873	0.96856	.	.	ENSG00000124222	ENST00000458280;ENST00000355957;ENST00000361770;ENST00000312283;ENST00000412911;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253	T;T;T;T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.87	5.87	0.94306	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.42017	0.1184	M	0.67517	2.055	0.80722	D	1	B;P;B;P	0.50710	0.111;0.571;0.105;0.938	B;P;B;P	0.55965	0.402;0.456;0.11;0.788	T	0.05194	-1.0900	10	0.48119	T	0.1	.	19.1915	0.93669	0.0:0.0:1.0:0.0	.	150;137;133;154	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	Q	101;137;137;101;101;101;154;101;133;150;154;96	ENSP00000388348:E101Q;ENSP00000348229:E137Q;ENSP00000355408:E137Q;ENSP00000312086:E101Q;ENSP00000416852:E101Q;ENSP00000352634:E101Q;ENSP00000360183:E154Q;ENSP00000360173:E133Q;ENSP00000350723:E150Q;ENSP00000354445:E154Q;ENSP00000401801:E96Q	ENSP00000360180:E101Q	E	+	1	0	STX16	56677819	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.348000	0.97062	2.779000	0.95612	0.655000	0.94253	GAG	STX16-NPEPL1	-	pfam_Syntaxin_N,superfamily_t-SNARE		0.682	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080517.2	G	NM_001001433		57244413	1	no_errors	ENST00000530122	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57244413	G	C	57244413	3	2	62	1	0	0	0	0	1	0	0	0	15369	1175	41	1	478	1	STX16	20	57244413	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	26633825	57244413	5781107	136	9803										
OSBPL2	9885	genome.wustl.edu	37	chr20	60856904	60856904	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gattatttggaaaagaacttCacaaggtggaaggacacatt	10	5	1	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr20:60856904C>G	ENST00000313733.3	+	9	1043	c.841C>G	c.(841-843)Cac>Gac	p.H281D	OSBPL2_ENST00000439951.2_Missense_Mutation_p.H189D|OSBPL2_ENST00000358053.2_Missense_Mutation_p.H269D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	281					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.H281D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAAAGAACTTCACAAGGTGGA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											122	117	119					20																	60856904		2203	4300	6503	SO:0001583	missense	9885			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.841C>G	20.37:g.60856904C>G	ENSP00000316649:p.His281Asp		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	pfam_Oxysterol-bd	p.H281D	ENST00000313733.3	37	c.841	CCDS13495.1	20	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247393	0.80024	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.27557	1.66;1.66;1.66	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.974;1.0;1.0;1.0	D;D;D;D	0.97110	0.95;1.0;1.0;1.0	T	0.70761	-0.4784	10	0.87932	D	0	-9.0253	18.0999	0.89503	0.0:1.0:0.0:0.0	.	189;281;269;281	E7ET92;B2RDK3;Q9H1P3-2;Q9H1P3	.;.;.;OSBL2_HUMAN	D	269;281;189	ENSP00000350755:H269D;ENSP00000316649:H281D;ENSP00000397602:H189D	ENSP00000316649:H281D	H	+	1	0	OSBPL2	60290299	1.000000	0.71417	0.991000	0.47740	0.788000	0.44548	7.365000	0.79537	2.372000	0.80975	0.655000	0.94253	CAC	OSBPL2	-	pfam_Oxysterol-bd		0.453	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1	C	NM_014835		60856904	1	no_errors	ENST00000313733	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60856904	C	G	60856904	3	3	62	1	0	0	0	0	1	0	0	0	11302	826	29	1	871	1	OSBPL2	20	60856904	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	3612491	60856904	2168616	137	9804										
DIDO1	11083	genome.wustl.edu	37	chr20	61542823	61542823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ctgtgggggtggcggctccaGtgggtcagcctccgcgtccc	17	14	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr20:61542823G>A	ENST00000266070.4	-	3	467	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	DIDO1_ENST00000266071.5_Silent_p.L48L|DIDO1_ENST00000395335.2_Silent_p.L48L|DIDO1_ENST00000370371.4_Silent_p.L48L|DIDO1_ENST00000395340.1_Silent_p.L48L|DIDO1_ENST00000395343.1_Silent_p.L48L|DIDO1_ENST00000370368.1_Silent_p.L48L|DIDO1_ENST00000354665.4_Silent_p.L48L|DIDO1_ENST00000370366.1_Silent_p.L48L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	48					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L48L(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCGGCTCCAGTGGGTCAGCC	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												2	Substitution - coding silent(2)	cervix(2)											31	35	34					20																	61542823		2199	4300	6499	SO:0001819	synonymous_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.142C>T	20.37:g.61542823G>A			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.L48	ENST00000266070.4	37	c.142	CCDS33506.1	20																																																																																			DIDO1	-	NULL		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	G	NM_080796		61542823	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	silent	SNP	0.000	A	A	61542823	G	A	61542823	2	1	62	1	0	0	0	0	0	0	0	1	4532	1020	36	4		4	DIDO1	20	61542823	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	685919	61542823	1482697	138	9805										
PRIC285	85441	genome.wustl.edu	37	chr20	62195546	62195546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtgaccgtccgcgtgcactcGctgcccaccaggaactcagc	11	17	1	1	rs547243901		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr20:62195546G>A	ENST00000467148.1	-	8	4698	c.4629C>T	c.(4627-4629)agC>agT	p.S1543S	HELZ2_ENST00000427522.2_Silent_p.S974S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1543					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1543S(2)									GCGTGCACTCGCTGCCCACCA	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		15101	0		0	False		,,,				2504	0																2	Substitution - coding silent(2)	cervix(1)|central_nervous_system(1)											33	22	26					20																	62195546		2188	4295	6483	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4629C>T	20.37:g.62195546G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S1543	ENST00000467148.1	37	c.4629	CCDS33508.1	20																																																																																			HELZ2	-	pfam_RNase_II/R,smart_RNase_II/R		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62195546	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.000	A	A	62195546	G	A	62195546	2	1	62	1	0	0	0	0	0	0	0	1	12512	1078	38	2		2	PRIC285	20	62195546	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	652723	62195546	829974	139	9806										
NRIP1	8204	genome.wustl.edu	37	chr21	16337230	16337230	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cctgtgagacactttcagcaGatgaagcctccctccaaatg	8	13	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr21:16337230G>A	ENST00000400202.1	-	3	3996	c.3284C>T	c.(3283-3285)tCt>tTt	p.S1095F	NRIP1_ENST00000318948.4_Missense_Mutation_p.S1095F|NRIP1_ENST00000400199.1_Missense_Mutation_p.S1095F|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1095	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1095F(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACTTTCAGCAGATGAAGCCTC	0.408																																																	1	Substitution - Missense(1)	cervix(1)											186	181	183					21																	16337230		2203	4300	6503	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3284C>T	21.37:g.16337230G>A	ENSP00000383063:p.Ser1095Phe		Q8IWE8	Missense_Mutation	SNP	NULL	p.S1095F	ENST00000400202.1	37	c.3284	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	G	3.849	-0.032211	0.07543	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08546	3.08;3.08;3.08	5.87	3.99	0.46301	.	0.595196	0.15111	N	0.279961	T	0.04861	0.0131	N	0.16478	0.41	0.24444	N	0.994519	B	0.06786	0.001	B	0.06405	0.002	T	0.32375	-0.9909	10	0.33141	T	0.24	-15.4782	4.6096	0.12395	0.2241:0.2677:0.5083:0.0	.	1095	P48552	NRIP1_HUMAN	F	1095	ENSP00000383060:S1095F;ENSP00000383063:S1095F;ENSP00000327213:S1095F	ENSP00000327213:S1095F	S	-	2	0	NRIP1	15259101	0.724000	0.28038	0.506000	0.27664	0.660000	0.38997	1.699000	0.37804	1.630000	0.50440	0.655000	0.94253	TCT	NRIP1	-	NULL		0.408	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16337230	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	missense	SNP	0.454	A	A	16337230	G	A	16337230	3	1	62	1	0	0	0	0	1	0	0	0	10676	942	33	1	196	1	NRIP1	21	16337230	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08		16337230	31792665	140	9807										
NRIP1	8204	genome.wustl.edu	37	chr21	16338244	16338244	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gtaagtcatcacaaggctcaGattttattttcaccatcagt	6	9	5	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr21:16338244G>A	ENST00000400202.1	-	3	2982	c.2270C>T	c.(2269-2271)tCt>tTt	p.S757F	NRIP1_ENST00000318948.4_Missense_Mutation_p.S757F|NRIP1_ENST00000400199.1_Missense_Mutation_p.S757F|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	757	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S757F(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACAAGGCTCAGATTTTATTTT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											112	108	109					21																	16338244		2203	4300	6503	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2270C>T	21.37:g.16338244G>A	ENSP00000383063:p.Ser757Phe		Q8IWE8	Missense_Mutation	SNP	NULL	p.S757F	ENST00000400202.1	37	c.2270	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285215	0.80803	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.09723	2.95;2.95;2.95	6.17	6.17	0.99709	.	0.239164	0.30714	N	0.009021	T	0.22475	0.0542	L	0.46157	1.445	0.45946	D	0.998774	D	0.57571	0.98	P	0.55508	0.777	T	0.00007	-1.2494	10	0.87932	D	0	-18.3492	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	757	P48552	NRIP1_HUMAN	F	757	ENSP00000383060:S757F;ENSP00000383063:S757F;ENSP00000327213:S757F	ENSP00000327213:S757F	S	-	2	0	NRIP1	15260115	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.073000	0.76784	2.941000	0.99782	0.655000	0.94253	TCT	NRIP1	-	NULL		0.403	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16338244	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	missense	SNP	0.998	A	A	16338244	G	A	16338244	3	1	62	1	0	0	0	0	1	0	0	0	10676	942	33	1	1210	1	NRIP1	21	16338244	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	1014	16338244	31791651	141	9808										
RRP1B	23076	genome.wustl.edu	37	chr21	45104458	45104458	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	actataaggctgttgctgatCgactcctggaaatgaccagc	10	10	0	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr21:45104458C>T	ENST00000340648.4	+	10	1033	c.916C>T	c.(916-918)Cga>Tga	p.R306*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	306					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.R306*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGTTGCTGATCGACTCCTGGA	0.483																																																	1	Substitution - Nonsense(1)	cervix(1)											157	144	148					21																	45104458		2203	4300	6503	SO:0001587	stop_gained	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.916C>T	21.37:g.45104458C>T	ENSP00000339145:p.Arg306*		Q8TBZ4	Nonsense_Mutation	SNP	pfam_Nop52	p.R306*	ENST00000340648.4	37	c.916	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	C	37	6.557049	0.97663	.	.	ENSG00000160208	ENST00000340648	.	.	.	5.29	3.45	0.39498	.	0.110735	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.5923	6.965	0.24617	0.3782:0.5385:0.0:0.0833	.	.	.	.	X	306	.	ENSP00000339145:R306X	R	+	1	2	RRP1B	43928886	0.964000	0.33143	0.903000	0.35520	0.922000	0.55478	1.323000	0.33701	0.587000	0.29643	-0.253000	0.11424	CGA	RRP1B	-	NULL		0.483	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	C	NM_015056		45104458	1	no_errors	ENST00000340648	ensembl	human	known	70_37	nonsense	SNP	0.993	T	T	45104458	C	T	45104458	4	4	62	1	0	0	0	0	0	1	0	0	13718	876	31	1	954	1	RRP1B	21	45104458	Nonsense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	28766214	45104458	3025437	142	9809										
DIP2A	23181	genome.wustl.edu	37	chr21	47929216	47929216	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tccaaaatccagcagcttctGaacaccctgaagaggccaaa	7	13	1	3			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr21:47929216G>C	ENST00000417564.2	+	7	852	c.831G>C	c.(829-831)ctG>ctC	p.L277L	DIP2A_ENST00000318711.7_Silent_p.L278L|DIP2A_ENST00000457905.3_Silent_p.L277L|DIP2A_ENST00000435722.3_Silent_p.L277L|DIP2A_ENST00000400274.1_Silent_p.L277L|DIP2A_ENST00000466639.1_Silent_p.L234L|DIP2A_ENST00000427143.2_Silent_p.L213L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	277					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L213L(1)|p.L278L(1)|p.L277L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGCAGCTTCTGAACACCCTGA	0.502																																																	3	Substitution - coding silent(3)	cervix(3)											139	143	141					21																	47929216		2017	4195	6212	SO:0001819	synonymous_variant	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.831G>C	21.37:g.47929216G>C			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.L278	ENST00000417564.2	37	c.834	CCDS46655.1	21																																																																																			DIP2A	-	NULL		0.502	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47929216	1	no_errors	ENST00000318711	ensembl	human	known	70_37	silent	SNP	0.072	C	C	47929216	G	C	47929216	2	2	62	1	0	0	0	0	0	0	0	1	4537	1277	45	1		1	DIP2A	21	47929216	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	2824758	47929216	200679	143	9810										
ZNF74	7625	genome.wustl.edu	37	chr22	20760282	20760282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cagctgccactcgtccctcaAcgtgcaccagcgcatccaca	7	19	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr22:20760282A>G	ENST00000400451.2	+	5	1473	c.959A>G	c.(958-960)aAc>aGc	p.N320S	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.N320S|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.N288S	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	320					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N320S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCGTCCCTCAACGTGCACCAG	0.662																																																	1	Substitution - Missense(1)	cervix(1)											42	47	45					22																	20760282		2203	4300	6503	SO:0001583	missense	7625			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.959A>G	22.37:g.20760282A>G	ENSP00000383301:p.Asn320Ser		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N320S	ENST00000400451.2	37	c.959	CCDS42982.1	22	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040875	0.35989	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.35421	3.99;3.99;1.31	3.85	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.165190	0.28742	N	0.014281	T	0.17704	0.0425	N	0.11364	0.135	0.09310	N	1	P	0.43826	0.818	B	0.43413	0.419	T	0.11299	-1.0593	10	0.11485	T	0.65	-31.0201	6.5035	0.22182	0.6061:0.0:0.0:0.3938	.	320	Q16587	ZNF74_HUMAN	S	320;320;288	ENSP00000383301:N320S;ENSP00000349098:N320S;ENSP00000385855:N288S	ENSP00000349098:N320S	N	+	2	0	ZNF74	19090282	0.000000	0.05858	0.942000	0.38095	0.955000	0.61496	-0.150000	0.10189	0.787000	0.33731	0.533000	0.62120	AAC	ZNF74	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	HGNC	protein_coding	OTTHUMT00000319648.2	A	NM_003426		20760282	1	no_errors	ENST00000356671	ensembl	human	known	70_37	missense	SNP	0.268	G	G	20760282	A	G	20760282	3	3	62	1	0	0	0	0	1	0	0	0	18157	43	2	5	977	5	ZNF74	22	20760282	Missense_Mutation	SNP	A	TCGA-DS-A0VN-01A-21D-A10S-08		20760282	30544284	144	9811										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	62	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	1366882	22127164	29177402	145	9812										
SEC14L3	266629	genome.wustl.edu	37	chr22	30866217	30866217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	accttgcggagcaaagcctcCgacttctgcaagtcaaaatt	8	12	2	0	rs544591201		TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr22:30866217C>T	ENST00000215812.4	-	3	246	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.S52S(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCAAAGCCTCCGACTTCTGCA	0.522																																					Esophageal Squamous(108;290 1516 3584 23771 37333)												1	Substitution - coding silent(1)	cervix(1)											56	60	59					22																	30866217		2203	4300	6503	SO:0001819	synonymous_variant	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.156G>A	22.37:g.30866217C>T			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.S52	ENST00000215812.4	37	c.156	CCDS13877.1	22																																																																																			SEC14L3	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran		0.522	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	HGNC	protein_coding	OTTHUMT00000321950.4	C	NM_174975		30866217	-1	no_errors	ENST00000215812	ensembl	human	known	70_37	silent	SNP	0.826	T	T	30866217	C	T	30866217	2	4	62	1	0	0	0	0	0	0	0	1	14013	639	23	2		2	SEC14L3	22	30866217	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	8739053	30866217	20438349	146	9813										
PLXNB2	23654	genome.wustl.edu	37	chr22	50719361	50719361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cagcacggggatgccggcctCgtgcacgtcgttggtctggt	16	12	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chr22:50719361C>T	ENST00000449103.1	-	24	3945	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.E1269K			O15031	PLXB2_HUMAN	plexin B2	1269					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.E1312K(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCCGGCCTCGTGCACGTCG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											77	89	85					22																	50719361		2167	4250	6417	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3805G>A	22.37:g.50719361C>T	ENSP00000409171:p.Glu1269Lys		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1269K	ENST00000449103.1	37	c.3805	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821542	0.90873	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03242	4.0;4.0	4.38	4.38	0.52667	.	0.306262	0.27715	N	0.018156	T	0.15132	0.0365	M	0.68593	2.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.13926	-1.0491	10	0.20519	T	0.43	.	17.0975	0.86639	0.0:1.0:0.0:0.0	.	1269	O15031	PLXB2_HUMAN	K	1269	ENSP00000409171:E1269K;ENSP00000352288:E1269K	ENSP00000352288:E1269K	E	-	1	0	PLXNB2	49061488	1.000000	0.71417	0.993000	0.49108	0.548000	0.35241	7.329000	0.79170	2.270000	0.75569	0.561000	0.74099	GAG	PLXNB2	-	NULL		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719361	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50719361	C	T	50719361	3	4	62	1	0	0	0	0	1	0	0	0	12148	893	31	1	1767	1	PLXNB2	22	50719361	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	19853144	50719361	585205	147	9814										
SHROOM2	357	genome.wustl.edu	37	chrX	9900723	9900723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	cgaaggccactgtctgtgagCgtggaagccagcatgtgagc	15	10	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chrX:9900723C>A	ENST00000380913.3	+	6	3490	c.3400C>A	c.(3400-3402)Cgt>Agt	p.R1134S	SHROOM2_ENST00000418909.2_De_novo_Start_OutOfFrame|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1134					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.R1134S(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGTCTGTGAGCGTGGAAGCCA	0.652																																																	1	Substitution - Missense(1)	cervix(1)											61	52	55					X																	9900723		2203	4300	6503	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3400C>A	X.37:g.9900723C>A	ENSP00000370299:p.Arg1134Ser		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1134S	ENST00000380913.3	37	c.3400	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	6.809	0.518383	0.13005	.	.	ENSG00000146950	ENST00000380913	T	0.13420	2.59	4.15	1.9	0.25705	.	.	.	.	.	T	0.07548	0.0190	N	0.22421	0.69	0.80722	D	1	B	0.27013	0.166	B	0.20577	0.03	T	0.25363	-1.0134	9	0.32370	T	0.25	.	5.9422	0.19199	0.5494:0.3222:0.1285:0.0	.	1134	Q13796	SHRM2_HUMAN	S	1134	ENSP00000370299:R1134S	ENSP00000370299:R1134S	R	+	1	0	SHROOM2	9860723	0.852000	0.29690	0.037000	0.18230	0.013000	0.08279	1.220000	0.32491	1.682000	0.51000	0.415000	0.27848	CGT	SHROOM2	-	NULL		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	C	NM_001649		9900723	1	no_errors	ENST00000380913	ensembl	human	known	70_37	missense	SNP	0.615	A	A	9900723	C	A	9900723	3	1	62	1	0	0	0	0	1	0	0	0	14324	768	27	2	3422	2	SHROOM2	23	9900723	Missense_Mutation	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08		9900723	145369837	148	9815										
ARHGAP6	395	genome.wustl.edu	37	chrX	11187767	11187767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gcaggttgggtccaaatatgGtggctaagtttagagatgtc	14	5	0	1			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chrX:11187767G>T	ENST00000337414.4	-	9	2539	c.1667C>A	c.(1666-1668)aCc>aAc	p.T556N	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T588N|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T365N|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T556N|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T353N|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T353N|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T381N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	556	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.T556N(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCAAATATGGTGGCTAAGTT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											147	122	130					X																	11187767		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1667C>A	X.37:g.11187767G>T	ENSP00000338967:p.Thr556Asn		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T556N	ENST00000337414.4	37	c.1667	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900944	0.92035	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000035	T	0.57902	0.2085	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.985;0.991;0.948;0.996;0.997	T	0.67925	-0.5544	10	0.72032	D	0.01	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	365;353;556;556;556	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	N	381;353;353;556;392;556;365;588	ENSP00000438135:T381N;ENSP00000370112:T353N;ENSP00000302312:T353N;ENSP00000338967:T556N;ENSP00000370093:T392N;ENSP00000370094:T556N;ENSP00000389394:T365N;ENSP00000370108:T588N	ENSP00000302312:T353N	T	-	2	0	ARHGAP6	11097688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.273000	0.95719	2.385000	0.81259	0.600000	0.82982	ACC	ARHGAP6	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11187767	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11187767	G	T	11187767	3	4	62	1	0	0	0	0	1	0	0	0	887	1261	44	4	1399	4	ARHGAP6	23	11187767	Missense_Mutation	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	1287044	11187767	144082793	149	9816										
EDA	1896	genome.wustl.edu	37	chrX	69176994	69176994	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	gagcagatggtaagtctactCagttgatcctttatcacttc	8	9	3	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chrX:69176994C>T	ENST00000374552.4	+	2	744				EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A						cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TAAGTCTACTCAGTTGATCCT	0.413																																																	0													113	107	109					X																	69176994		2203	4300	6503	SO:0001627	intron_variant	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.502+12C>T	X.37:g.69176994C>T			A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	RNA	SNP	-	NULL	ENST00000374552.4	37	NULL	CCDS14394.1	X	.	.	.	.	.	.	.	.	.	.	C	5.085	0.201279	0.09652	.	.	ENSG00000158813	ENST00000513754	.	.	.	4.19	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0838	0.14671	0.0:0.4188:0.0:0.5812	.	.	.	.	X	172	.	.	Q	+	1	0	EDA	69093719	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.491000	0.06474	0.106000	0.17784	-0.197000	0.12766	CAG	EDA	-	-		0.413	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDA	HGNC	protein_coding	OTTHUMT00000057048.2	C	NM_001399		69176994	1	no_errors	ENST00000502251	ensembl	human	known	70_37	rna	SNP	0.000	T	T	69176994	C	T	69176994	1	4	62	0	1	0	0	0	0	0	0	0	4913	827	29	1		1	EDA	23	69176994	Intron	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	57989227	69176994	86093566	150	9817										
RGAG4	340526	genome.wustl.edu	37	chrX	71350359	71350359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	tcttggtcttcatcttcactGtagtactcttcatcttcact	4	12	9	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chrX:71350359G>A	ENST00000545866.1	-	1	1399	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Silent_p.Y344Y	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	344								p.Y417Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATCTTCACTGTAGTACTCTT	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											58	53	54					X																	71350359		2004	4161	6165	SO:0001819	synonymous_variant	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1032C>T	X.37:g.71350359G>A			A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	pfam_Retrotrans_gag	p.Y344	ENST00000545866.1	37	c.1032	CCDS55446.1	X																																																																																			RGAG4	-	NULL		0.517	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	G	NM_001024455		71350359	-1	no_errors	ENST00000479991	ensembl	human	known	70_37	silent	SNP	0.828	A	A	71350359	G	A	71350359	2	1	62	1	0	0	0	0	0	0	0	1	13305	1372	48	4		4	RGAG4	23	71350359	Silent	SNP	G	TCGA-DS-A0VN-01A-21D-A10S-08	2173365	71350359	83920201	151	9818										
GLRA4	441509	genome.wustl.edu	37	chrX	102979469	102979469	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	ggagcagggagatcccttacCattgtggtcttggtgatgga	15	7	1	2			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chrX:102979469C>T	ENST00000372617.4	-	3	690	c.270G>A	c.(268-270)atG>atA	p.M90I	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	90						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.M90I(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATCCCTTACCATTGTGGTCT	0.547																																																	2	Substitution - Missense(2)	cervix(2)											86	87	86					X																	102979469		2069	4206	6275	SO:0001630	splice_region_variant	441509			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.270+1G>A	X.37:g.102979469C>T				Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.M90I	ENST00000372617.4	37	c.270	CCDS43980.2	X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280467	0.80692	.	.	ENSG00000188828	ENST00000372617	T	0.79141	-1.24	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.039115	0.85682	D	0.000000	D	0.91257	0.7244	H	0.95187	3.635	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.93440	0.6793	9	.	.	.	.	14.2505	0.66016	0.0:1.0:0.0:0.0	.	90;49	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	I	90	ENSP00000361700:M90I	.	M	-	3	0	GLRA4	102866125	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.506000	0.81665	2.440000	0.82611	0.529000	0.55759	ATG	GLRA4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.547	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	HGNC	protein_coding	OTTHUMT00000057742.2	C	NM_001024452	Missense_Mutation	102979469	-1	no_errors	ENST00000372617	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102979469	C	T	102979469	5	4	62	1	0	0	0	0	0	0	1	0	6476	608	21	4	1106	4	GLRA4	23	102979469	Splice_Site	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	31629110	102979469	52291091	152	9819										
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685755	125685755	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.403973509933775	61	4.69551116906302e-18	3.33603930784021	4.10997391129841	3.05538170438833	0.000325699341973872	0.00263273634762213	43	aagtagccgtccaaggacacCgctcccagttcctggttctt	9	14	1	0			TCGA-DS-A0VN-01A-21D-A10S-08	TCGA-DS-A0VN-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dae06e68-c43d-468e-a526-f52e8f549873	9feea440-0b98-4652-98db-817e1bb3b066	g.chrX:125685755C>A	ENST00000371126.1	-	1	1079	c.837G>T	c.(835-837)gcG>gcT	p.A279A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	279								p.A279A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCAAGGACACCGCTCCCAGTT	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											50	48	49					X																	125685755		2203	4300	6503	SO:0001819	synonymous_variant	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.837G>T	X.37:g.125685755C>A			Q8IYK3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A279	ENST00000371126.1	37	c.837	CCDS14610.1	X																																																																																			DCAF12L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	C	NM_178470		125685755	-1	no_errors	ENST00000371126	ensembl	human	known	70_37	silent	SNP	0.008	A	A	125685755	C	A	125685755	2	1	62	1	0	0	0	0	0	0	0	1	4269	639	23	2		2	DCAF12L1	23	125685755	Silent	SNP	C	TCGA-DS-A0VN-01A-21D-A10S-08	22706286	125685755	29584805	153	9820										
KIF1B	23095	genome.wustl.edu	37	chr1	10363823	10363823	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	atggaaaaagtcttgccactGatcggatctcaggaacagaa	10	8	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:10363823G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Silent_p.L860L|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Silent_p.L860L|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTGCCACTGATCGGATCTC	0.388																																																	0													43	46	45					1																	10363823		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6519G>A	1.37:g.10363823G>A			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L860	ENST00000377086.1	37	c.2580		1																																																																																			KIF1B	-	NULL		0.388	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10363823	1	no_errors	ENST00000377083	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10363823	G	A	10363823	1	1	63	0	1	0	0	0	0	0	0	0	8304	1277	45	1		1	KIF1B	1	10363823	Intron	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08		10363823	238886798	1	9821										
DDI2	84301	genome.wustl.edu	37	chr1	15978347	15978347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cggccagaggagattgcagaCcaagaattagcagaagccct	12	10	0	5			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:15978347C>T	ENST00000480945.1	+	8	1311	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	380							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGATTGCAGACCAAGAATTAG	0.512																																																	0													81	78	79					1																	15978347		2203	4300	6503	SO:0001819	synonymous_variant	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1140C>T	1.37:g.15978347C>T			A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup	p.D380	ENST00000480945.1	37	c.1140	CCDS30607.1	1																																																																																			DDI2	-	NULL		0.512	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	C	NM_032341		15978347	1	no_errors	ENST00000480945	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15978347	C	T	15978347	2	4	63	1	0	0	0	0	0	0	0	1	4334	506	18	4		4	DDI2	1	15978347	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	5614524	15978347	233272274	2	9822										
CELSR2	1952	genome.wustl.edu	37	chr1	109793863	109793863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccacagccgctgttttccttTctgtggaggatgacaatgat	10	10	1	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:109793863T>C	ENST00000271332.3	+	1	1223	c.1162T>C	c.(1162-1164)Tct>Cct	p.S388P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	388	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTTTTCCTTTCTGTGGAGGA	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)												0													63	70	68					1																	109793863		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1162T>C	1.37:g.109793863T>C	ENSP00000271332:p.Ser388Pro		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S388P	ENST00000271332.3	37	c.1162	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	12.85	2.061499	0.36373	.	.	ENSG00000143126	ENST00000271332	T	0.01854	4.6	4.99	3.87	0.44632	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01558	0.0050	M	0.62088	1.915	0.09310	N	1	P	0.41624	0.757	P	0.47346	0.544	T	0.49312	-0.8953	9	0.41790	T	0.15	.	2.711	0.05174	0.1922:0.0778:0.1277:0.6023	.	388	Q9HCU4	CELR2_HUMAN	P	388	ENSP00000271332:S388P	ENSP00000271332:S388P	S	+	1	0	CELSR2	109595386	0.000000	0.05858	0.708000	0.30435	0.971000	0.66376	0.058000	0.14301	0.961000	0.38030	0.454000	0.30748	TCT	CELSR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	T	NM_001408		109793863	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.013	C	C	109793863	T	C	109793863	3	2	63	1	0	0	0	0	1	0	0	0	3227	1783	62	5	1164	5	CELSR2	1	109793863	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	93815516	109793863	139456758	3	9823										
SLC6A17	388662	genome.wustl.edu	37	chr1	110714769	110714769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ggctgtgggtcagaggatccGccgcggcagcatcggtgtgt	18	10	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:110714769G>A	ENST00000331565.4	+	3	859	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	125					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CAGAGGATCCGCCGCGGCAGC	0.622																																																	0													60	45	50					1																	110714769		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.374G>A	1.37:g.110714769G>A	ENSP00000330199:p.Arg125His		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.R125H	ENST00000331565.4	37	c.374	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.499177	0.96355	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77750	-1.12	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91982	0.5595	10	0.87932	D	0	.	18.6986	0.91611	0.0:0.0:1.0:0.0	.	125	Q9H1V8	S6A17_HUMAN	H	125	ENSP00000330199:R125H	ENSP00000330199:R125H	R	+	2	0	SLC6A17	110516292	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.404000	0.81709	0.585000	0.79938	CGC	SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	G	XM_371280		110714769	1	no_errors	ENST00000331565	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110714769	G	A	110714769	3	1	63	1	0	0	0	0	1	0	0	0	14710	1087	38	2	380	2	SLC6A17	1	110714769	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	920906	110714769	138535852	4	9824										
FCRL3	115352	genome.wustl.edu	37	chr1	157667110	157667110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gagggagaattgcagctggaCatctggcctctgtggagaga	16	7	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:157667110C>T	ENST00000368184.3	-	6	955	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	FCRL3_ENST00000368186.5_Missense_Mutation_p.V222I|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	222	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGCAGCTGGACATCTGGCCTC	0.582																																																	0													80	83	82					1																	157667110		2203	4300	6503	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.664G>A	1.37:g.157667110C>T	ENSP00000357167:p.Val222Ile		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V222I	ENST00000368184.3	37	c.664	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122913	0.20959	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.13538	2.58;2.58	5.74	-0.557	0.11800	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.316600	0.00914	N	0.002519	T	0.02267	0.0070	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.012;0.004	T	0.33599	-0.9862	10	0.10902	T	0.67	.	6.1842	0.20488	0.0:0.1184:0.2912:0.5904	.	222;222	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	222	ENSP00000357169:V222I;ENSP00000357167:V222I	ENSP00000292392:V222I	V	-	1	0	FCRL3	155933734	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.271000	0.08572	-0.038000	0.13624	-0.333000	0.08304	GTC	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	C	NM_052939		157667110	-1	no_errors	ENST00000368186	ensembl	human	known	70_37	missense	SNP	0.000	T	T	157667110	C	T	157667110	3	4	63	1	0	0	0	0	1	0	0	0	5814	478	17	4	1580	4	FCRL3	1	157667110	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	46952341	157667110	91583511	5	9825										
ZNF678	339500	genome.wustl.edu	37	chr1	227843441	227843441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	atgtaaagaatgtggaaaagGtttttaccaatcctcaatcc	7	7	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:227843441G>C	ENST00000343776.5	+	4	1835	c.1490G>C	c.(1489-1491)gGt>gCt	p.G497A	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G552A	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TGTGGAAAAGGTTTTTACCAA	0.353																																																	0													44	47	46					1																	227843441		2202	4296	6498	SO:0001583	missense	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1490G>C	1.37:g.227843441G>C	ENSP00000344828:p.Gly497Ala		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G552A	ENST00000343776.5	37	c.1655		1	.	.	.	.	.	.	.	.	.	.	G	0	-2.805447	0.00075	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.34472	1.36;1.36	1.21	-0.4	0.12411	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11281	0.0275	N	0.02539	-0.55	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.33240	-0.9876	9	0.02654	T	1	.	7.1151	0.25412	0.0:0.4579:0.5421:0.0	.	497	Q5SXM1	ZN678_HUMAN	A	497;552	ENSP00000344828:G497A;ENSP00000440403:G552A	ENSP00000344828:G497A	G	+	2	0	ZNF678	225910064	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.046000	0.11983	-0.430000	0.07318	-0.430000	0.05897	GGT	ZNF678	-	pfscan_Znf_C2H2		0.353	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	G	NM_178549		227843441	1	no_errors	ENST00000397097	ensembl	human	known	70_37	missense	SNP	0.010	C	C	227843441	G	C	227843441	3	2	63	1	0	0	0	0	1	0	0	0	18115	1261	44	4	1669	4	ZNF678	1	227843441	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	70176331	227843441	21407180	6	9826										
AHCTF1	25909	genome.wustl.edu	37	chr1	247079513	247079514	+	Frame_Shift_Ins	INS	-	-	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	aaagacagagaacactccctINStctgtttcttccaatcctat							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:247079513_247079514insA	ENST00000391829.2	-	3	428_429	c.305_306insT	c.(304-306)gaafs	p.E102fs	AHCTF1_ENST00000366508.1_Frame_Shift_Ins_p.E137fs|AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.E111fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	102	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAACACTCCCTTCTGTTTCTTC	0.391																																					Colon(145;197 1800 4745 15099 26333)												0																																										SO:0001589	frameshift_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.305_306insT	1.37:g.247079513_247079514insA	ENSP00000375705:p.Glu102fs		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Ins	INS	superfamily_Quinonprotein_ADH-like	p.E111fs	ENST00000391829.2	37	c.333_332		1																																																																																			AHCTF1	-	superfamily_Quinonprotein_ADH-like		0.391	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	NM_015446		247079514	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	A	A	247079514	-	A	247079513	7	5	63	1	0	1	1	0	0	0	0	0	408	1606	56	0	6630	0	AHCTF1	1	247079513	Frame_Shift_Ins	INS	-	TCGA-DS-A1OA-01A-11D-A16Y-08	19236072	247079513	2171108	7	9827										
ZNF695	57116	genome.wustl.edu	37	chr1	247150416	247150416	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccaaaggctttgccacattcTtcacatttgtagggtttctc	7	11	3	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:247150416T>A	ENST00000339986.7	-	4	1548	c.1401A>T	c.(1399-1401)gaA>gaT	p.E467D	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	467					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCACATTCTTCACATTTGT	0.388																																																	0																																										SO:0001583	missense	57116				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1401A>T	1.37:g.247150416T>A	ENSP00000341236:p.Glu467Asp		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E467D	ENST00000339986.7	37	c.1401	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748658	0.30955	.	.	ENSG00000197472	ENST00000339986	T	0.07567	3.18	0.642	0.642	0.17765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.02420	-0.555	0.09310	N	1	B	0.32245	0.361	B	0.27500	0.08	T	0.40701	-0.9549	9	0.54805	T	0.06	.	5.509	0.16870	0.0:1.0E-4:0.0:0.9999	.	467	Q8IW36	ZN695_HUMAN	D	467	ENSP00000341236:E467D	ENSP00000341236:E467D	E	-	3	2	ZNF695	245217039	0.000000	0.05858	0.364000	0.25888	0.784000	0.44337	-8.309000	0.00022	0.534000	0.28695	0.172000	0.16884	GAA	ZNF695	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	T	NM_020394		247150416	-1	no_errors	ENST00000339986	ensembl	human	known	70_37	missense	SNP	0.377	A	A	247150416	T	A	247150416	3	1	63	1	0	0	0	0	1	0	0	0	18128	1606	56	5	150	5	ZNF695	1	247150416	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	70903	247150416	2100205	8	9828										
SPOPL	339745	genome.wustl.edu	37	chr2	139326556	139326556	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gtggaagtccatgattcagtCtcaccctcatttagtagcag	9	10	3	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:139326556C>G	ENST00000280098.4	+	11	1464	c.1085C>G	c.(1084-1086)tCt>tGt	p.S362C	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	362					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATGATTCAGTCTCACCCTCAT	0.403																																																	0													250	254	253					2																	139326556		2203	4300	6503	SO:0001583	missense	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1085C>G	2.37:g.139326556C>G	ENSP00000280098:p.Ser362Cys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.S362C	ENST00000280098.4	37	c.1085	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954879	0.73902	.	.	ENSG00000144228	ENST00000280098	T	0.72282	-0.64	5.97	5.09	0.68999	.	0.095042	0.85682	D	0.000000	T	0.78660	0.4318	M	0.72624	2.21	0.80722	D	1	D	0.62365	0.991	P	0.52672	0.706	T	0.79841	-0.1633	9	.	.	.	-13.496	17.1939	0.86887	0.0:0.8739:0.1261:0.0	.	362	Q6IQ16	SPOPL_HUMAN	C	362	ENSP00000280098:S362C	.	S	+	2	0	SPOPL	139043026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	1.515000	0.48885	0.655000	0.94253	TCT	SPOPL	-	NULL		0.403	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	C			139326556	1	no_errors	ENST00000280098	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139326556	C	G	139326556	3	3	63	1	0	0	0	0	1	0	0	0	15115	913	32	1	1123	1	SPOPL	2	139326556	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		139326556	103872817	9	9829										
TTN	7273	genome.wustl.edu	37	chr2	179443955	179443955	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gagttgtgttaaccgcagatGactcaacactgactctagtg	10	9	2	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:179443955G>A	ENST00000591111.1	-	270	63103	c.62879C>T	c.(62878-62880)tCa>tTa	p.S20960L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S13661L|TTN_ENST00000460472.2_Missense_Mutation_p.S13536L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S22601L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S13728L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20033L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20960	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCGCAGATGACTCAACACT	0.448																																																	0													122	119	120					2																	179443955		1953	4141	6094	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62879C>T	2.37:g.179443955G>A	ENSP00000465570:p.Ser20960Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S20033L	ENST00000591111.1	37	c.60098		2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094372	0.56075	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68366	0.2993	L	0.52011	1.625	0.80722	D	1	B;B;B;B	0.21905	0.062;0.062;0.062;0.062	B;B;B;B	0.30716	0.119;0.119;0.119;0.119	T	0.64643	-0.6359	9	0.87932	D	0	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	13536;13661;13728;20960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20033;13536;13728;13661;13534	ENSP00000343764:S20033L;ENSP00000434586:S13536L;ENSP00000340554:S13728L;ENSP00000352154:S13661L	ENSP00000340554:S13728L	S	-	2	0	TTN	179152201	1.000000	0.71417	0.970000	0.41538	0.924000	0.55760	9.807000	0.99171	2.833000	0.97629	0.655000	0.94253	TCA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179443955	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179443955	G	A	179443955	3	1	63	1	0	0	0	0	1	0	0	0	16766	1294	45	1	40349	1	TTN	2	179443955	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	40117399	179443955	63755418	10	9830										
TTN	7273	genome.wustl.edu	37	chr2	179633660	179633660	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gcatggaagtaatcatgattGctgcaaaggagaaaagaaaa	11	4	1	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:179633660G>A	ENST00000591111.1	-	38	9127	c.8903C>T	c.(8902-8904)cCa>cTa	p.P2968L	TTN_ENST00000359218.5_Splice_Site_p.P2922L|TTN_ENST00000460472.2_Splice_Site_p.P2922L|TTN_ENST00000589042.1_Splice_Site_p.P2968L|TTN_ENST00000342175.6_Splice_Site_p.P2922L|TTN_ENST00000342992.6_Splice_Site_p.P2968L|TTN_ENST00000360870.5_Splice_Site_p.P2968L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13298	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCATGATTGCTGCAAAGGA	0.363																																																	0													86	82	84					2																	179633660		2203	4300	6503	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8903-1C>T	2.37:g.179633660G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P2968L	ENST00000591111.1	37	c.8903		2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158442	0.57368	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64991	-0.13;-0.06;-0.01;-0.09;-0.07	5.45	5.45	0.79879	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81955	0.4932	M	0.84219	2.685	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;0.997;0.997;1.0	D	0.84023	0.0355	9	0.87932	D	0	.	19.628	0.95687	0.0:0.0:1.0:0.0	.	2922;2922;2922;2968;2968	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2968;2922;2922;2922;2922;2968	ENSP00000343764:P2968L;ENSP00000434586:P2922L;ENSP00000340554:P2922L;ENSP00000352154:P2922L;ENSP00000354117:P2968L	ENSP00000340554:P2922L	P	-	2	0	TTN	179341905	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.360000	0.97119	2.714000	0.92807	0.563000	0.77884	CCA	TTN	-	superfamily_RNaseH-like_dom		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378	Missense_Mutation	179633660	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179633660	G	A	179633660	5	1	63	1	0	0	0	0	0	0	1	0	16766	1333	46	4	102385	4	TTN	2	179633660	Splice_Site	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	189705	179633660	63565713	11	9831										
SLMAP	7871	genome.wustl.edu	37	chr3	57898920	57898920	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tgagaaaggaatggaatgcaTtggaaaccgaatgccattct	11	6	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:57898920T>A	ENST00000428312.1	+	19	2099	c.2005T>A	c.(2005-2007)Ttg>Atg	p.L669M	SLMAP_ENST00000416870.1_Missense_Mutation_p.L162M|SLMAP_ENST00000295952.3_Missense_Mutation_p.L652M|SLMAP_ENST00000295951.3_Missense_Mutation_p.L652M|SLMAP_ENST00000495364.1_Missense_Mutation_p.L203M|SLMAP_ENST00000494088.1_Missense_Mutation_p.L162M|SLMAP_ENST00000442599.2_Missense_Mutation_p.L137M|SLMAP_ENST00000449503.2_Missense_Mutation_p.L631M			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	669					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		ATGGAATGCATTGGAAACCGA	0.343																																																	0													79	80	80					3																	57898920		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2005T>A	3.37:g.57898920T>A	ENSP00000398661:p.Leu669Met		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.L669M	ENST00000428312.1	37	c.2005		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.98|19.98|19.98	3.927856|3.927856|3.927856	0.73327|0.73327|0.73327	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000417128|ENST00000416658;ENST00000438794|ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088	.|.|T;T;T;T;T;T;T;D	.|.|0.85484	.|.|-1.3;-1.3;-1.3;0.15;0.11;1.42;-1.3;-1.99	6.06|6.06|6.06	2.53|2.53|2.53	0.30540|0.30540|0.30540	.|.|.	.|.|0.067043	.|.|0.64402	.|.|D	.|.|0.000010	D|D|D	0.88618|0.88618|0.88618	0.6485|0.6485|0.6485	M|M|M	0.63843|0.63843|0.63843	1.955|1.955|1.955	0.52501|0.52501|0.52501	D|D|D	0.999958|0.999958|0.999958	.|.|D;D;D;D;D;D;D;D	.|.|0.89917	.|.|0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0	.|.|D;D;D;D;D;D;D;D	.|.|0.91635	.|.|0.999;0.999;0.999;0.999;0.997;0.986;0.968;0.999	D|D|D	0.85972|0.85972|0.85972	0.1477|0.1477|0.1477	5|5|10	.|.|0.54805	.|.|T	.|.|0.06	-3.6483|-3.6483|-3.6483	6.3131|6.3131|6.3131	0.21176|0.21176|0.21176	0.0:0.406:0.0:0.594|0.0:0.406:0.0:0.594|0.0:0.406:0.0:0.594	.|.|.	.|.|162;137;203;162;263;631;669;652	.|.|B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3	.|.|.;.;.;.;.;.;SLMAP_HUMAN;.	Q|N|M	252|276;206|652;652;162;669;631;263;137;203;162	.|.|ENSP00000295951:L652M;ENSP00000295952:L652M;ENSP00000412342:L162M;ENSP00000398661:L669M;ENSP00000412945:L631M;ENSP00000388978:L137M;ENSP00000419543:L203M;ENSP00000418218:L162M	.|.|ENSP00000295951:L652M	H|I|L	+|+|+	3|2|1	2|0|2	SLMAP|SLMAP|SLMAP	57873960|57873960|57873960	0.537000|0.537000|0.537000	0.26386|0.26386|0.26386	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.917000|0.917000|0.917000	0.54804|0.54804|0.54804	0.685000|0.685000|0.685000	0.25378|0.25378|0.25378	0.555000|0.555000|0.555000	0.29079|0.29079|0.29079	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	CAT|ATT|TTG	SLMAP	-	NULL		0.343	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	T	NM_007159		57898920	1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	0.999	A	A	57898920	T	A	57898920	3	1	63	1	0	0	0	0	1	0	0	0	14779	1490	52	5	2024	5	SLMAP	3	57898920	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08		57898920	140123510	12	9832										
PODXL2	50512	genome.wustl.edu	37	chr3	127358323	127358323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cagtacttctgggaagaggaGgaagagctgaatgactcaag	14	6	2	4			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:127358323G>A	ENST00000342480.6	+	2	345	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	102					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGAAGAGGAGGAAGAGCTGA	0.562																																																	0													73	80	77					3																	127358323		2203	4300	6503	SO:0001819	synonymous_variant	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.306G>A	3.37:g.127358323G>A			Q6UVY4|Q8WUV6	Silent	SNP	pfam_CD34/Podocalyxin	p.E102	ENST00000342480.6	37	c.306	CCDS3044.1	3																																																																																			PODXL2	-	NULL		0.562	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	G	NM_015720		127358323	1	no_errors	ENST00000342480	ensembl	human	known	70_37	silent	SNP	1.000	A	A	127358323	G	A	127358323	2	1	63	1	0	0	0	0	0	0	0	1	12205	991	35	4		4	PODXL2	3	127358323	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	69459403	127358323	70664107	13	9833										
TP63	8626	genome.wustl.edu	37	chr3	189526299	189526299	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccagcagtcgagcaccgccaAgtcggccacctggacggtaa	12	15	0	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:189526299A>T	ENST00000264731.3	+	4	652	c.563A>T	c.(562-564)aAg>aTg	p.K188M	TP63_ENST00000320472.5_Missense_Mutation_p.K188M|TP63_ENST00000440651.2_Missense_Mutation_p.K188M|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.K188M|TP63_ENST00000437221.1_Missense_Mutation_p.K94M|TP63_ENST00000392460.3_Missense_Mutation_p.K188M|TP63_ENST00000456148.1_Missense_Mutation_p.K94M|TP63_ENST00000392461.3_Missense_Mutation_p.K94M|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.K94M|TP63_ENST00000354600.5_Missense_Mutation_p.K94M	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	188					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCACCGCCAAGTCGGCCACC	0.627										HNSCC(45;0.13)																																							0													99	83	89					3																	189526299		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.563A>T	3.37:g.189526299A>T	ENSP00000264731:p.Lys188Met		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.K188M	ENST00000264731.3	37	c.563	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704883	0.88924	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.71	5.71	0.89125	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.90019	3.08	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;1.0;0.999	D	0.96409	0.9303	9	.	.	.	-4.6965	15.1602	0.72778	1.0:0.0:0.0:0.0	.	188;188;94;94;94;94;188;188;188	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	M	188;188;188;188;188;94;94;94;94;94;94	ENSP00000264731:K188M;ENSP00000407144:K188M;ENSP00000317510:K188M;ENSP00000376253:K188M;ENSP00000394337:K188M;ENSP00000346614:K94M;ENSP00000401661:K94M;ENSP00000392488:K94M;ENSP00000376256:K94M;ENSP00000376254:K94M;ENSP00000389485:K94M	.	K	+	2	0	TP63	191008993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.182000	0.69389	0.460000	0.39030	AAG	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.627	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	A	NM_003722		189526299	1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	T	T	189526299	A	T	189526299	3	4	63	1	0	0	0	0	1	0	0	0	16423	72	3	5	623	5	TP63	3	189526299	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	62167976	189526299	8496131	14	9834										
LEPREL1	55214	genome.wustl.edu	37	chr3	189711979	189711979	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ggtccggcattctgtatcttCaacgaaatattctcttaagg	8	9	4	0	rs376765314		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:189711979C>T	ENST00000319332.5	-	3	924	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E62K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	243					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTGTATCTTCAACGAAATAT	0.413																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	90	88	89		184,727	6	1	3		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LEPREL1	NM_001134418.1,NM_018192.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	62/528,243/709	189711979	1,13005	2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.727G>A	3.37:g.189711979C>T	ENSP00000316881:p.Glu243Lys		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E243K	ENST00000319332.5	37	c.727	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544287	0.65198	0.0	1.16E-4	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.96	5.96	0.96718	.	0.097321	0.64402	D	0.000002	T	0.41926	0.1180	N	0.22421	0.69	0.52501	D	0.999955	P	0.42827	0.791	B	0.38616	0.277	T	0.19712	-1.0297	9	.	.	.	-22.5468	19.3889	0.94570	0.0:1.0:0.0:0.0	.	243	Q8IVL5	P3H2_HUMAN	K	243;62;62;62	ENSP00000316881:E243K;ENSP00000408947:E62K;ENSP00000391374:E62K;ENSP00000394326:E62K	.	E	-	1	0	LEPREL1	191194673	1.000000	0.71417	0.970000	0.41538	0.523000	0.34469	7.162000	0.77515	2.826000	0.97356	0.655000	0.94253	GAA	LEPREL1	-	NULL		0.413	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189711979	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	1.000	T	T	189711979	C	T	189711979	3	4	63	1	0	0	0	0	1	0	0	0	8750	835	29	1	1451	1	LEPREL1	3	189711979	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	185680	189711979	8310451	15	9835										
ZNF595	152687	genome.wustl.edu	37	chr4	86925	86925	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gagagaaaccctacaaatgtAaagaatgtggcaaagctttt	9	6	0	2	rs61745977	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:86925A>G	ENST00000339368.6	+	0	1734							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CTACAAATGTAAAGAATGTGG	0.378																																																	0													51	58	56					4																	86925		2108	4255	6363	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1731A>G	4.37:g.86925A>G				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.378	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	A	NM_182524		86925	1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	SNP	0.820	G	G	86925	A	G	86925	1	3	63	0	1	0	0	0	0	0	0	0	18055	349	13	5		5	ZNF595	4	86925	3'UTR	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08		86925	191067351	16	9836										
ZNF141	7700	genome.wustl.edu	37	chr4	367245	367245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tactggagagaaaccctacaCatgtgaagaatgtggcaaag	11	7	0	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:367245C>A	ENST00000240499.7	+	4	1168	c.1019C>A	c.(1018-1020)aCa>aAa	p.T340K	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	340					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAACCCTACACATGTGAAGAA	0.408																																																	0																																										SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1019C>A	4.37:g.367245C>A	ENSP00000240499:p.Thr340Lys		Q6DK07	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T340K	ENST00000240499.7	37	c.1019	CCDS33931.1	4	.	.	.	.	.	.	.	.	.	.	C	0.808	-0.753077	0.03041	.	.	ENSG00000131127	ENST00000240499	T	0.16597	2.33	1.24	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	N	0.01168	-0.975	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.43393	-0.9394	8	.	.	.	.	3.5892	0.07982	0.0:0.5135:0.2591:0.2274	.	340	Q15928	ZN141_HUMAN	K	340	ENSP00000240499:T340K	.	T	+	2	0	ZNF141	357245	0.000000	0.05858	0.094000	0.20943	0.859000	0.49053	-2.017000	0.01445	-0.228000	0.09869	0.313000	0.20887	ACA	ZNF141	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	HGNC	protein_coding	OTTHUMT00000357710.1	C	NM_003441		367245	1	no_errors	ENST00000240499	ensembl	human	known	70_37	missense	SNP	0.034	A	A	367245	C	A	367245	3	1	63	1	0	0	0	0	1	0	0	0	17760	478	17	4	1033	4	ZNF141	4	367245	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	280320	367245	190787031	17	9837										
DRD5	1816	genome.wustl.edu	37	chr4	9783770	9783770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gcaccgccactggggccctcAcaggtggtcaccgcctgcct	12	18	2	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:9783770A>G	ENST00000304374.2	+	1	513	c.117A>G	c.(115-117)tcA>tcG	p.S39S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	39					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGGGCCCTCACAGGTGGTCA	0.711																																																	0													12	11	11					4																	9783770		2196	4288	6484	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.117A>G	4.37:g.9783770A>G			B2R9S3|Q8NEQ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S39	ENST00000304374.2	37	c.117	CCDS3405.1	4																																																																																			DRD5	-	NULL		0.711	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	A			9783770	1	no_errors	ENST00000304374	ensembl	human	known	70_37	silent	SNP	0.892	G	G	9783770	A	G	9783770	2	3	63	1	0	0	0	0	0	0	0	1	4770	146	6	5		5	DRD5	4	9783770	Silent	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	9416525	9783770	181370506	18	9838										
PGM2	55276	genome.wustl.edu	37	chr4	37851828	37851828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tggctaccatattactaaagCttcctattttatctgccatg	5	10	1	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:37851828C>T	ENST00000381967.4	+	12	1536	c.1436C>T	c.(1435-1437)gCt>gTt	p.A479V	PGM2_ENST00000537241.1_Missense_Mutation_p.A319V	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	479					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTACTAAAGCTTCCTATTTT	0.333																																																	0													41	45	44					4																	37851828		2201	4299	6500	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1436C>T	4.37:g.37851828C>T	ENSP00000371393:p.Ala479Val		B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A479V	ENST00000381967.4	37	c.1436	CCDS3443.1	4	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472621	0.43942	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.37752	1.18;1.96	5.53	4.68	0.58851	.	0.213479	0.48767	N	0.000161	T	0.23289	0.0563	N	0.20881	0.62	0.38987	D	0.959075	B	0.09022	0.002	B	0.12156	0.007	T	0.07578	-1.0765	10	0.30854	T	0.27	-20.2216	9.6365	0.39811	0.1383:0.7896:0.0:0.072	.	479	Q96G03	PGM2_HUMAN	V	479;319	ENSP00000371393:A479V;ENSP00000437342:A319V	ENSP00000371393:A479V	A	+	2	0	PGM2	37528223	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.284000	0.43478	2.605000	0.88082	0.650000	0.86243	GCT	PGM2	-	NULL		0.333	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	C	NM_018290		37851828	1	no_errors	ENST00000381967	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37851828	C	T	37851828	3	4	63	1	0	0	0	0	1	0	0	0	11822	797	28	4	1482	4	PGM2	4	37851828	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	28068058	37851828	153302448	19	9839										
SMARCAD1	56916	genome.wustl.edu	37	chr4	95147284	95147284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ttgcagaagattctagtgttCcagaaactccagataatgaa	8	7	1	5	rs555203609		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:95147284C>G	ENST00000354268.4	+	3	278	c.205C>G	c.(205-207)Cca>Gca	p.P69A	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P69A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	69					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTCTAGTGTTCCAGAAACTCC	0.303																																																	0													48	50	50					4																	95147284		2201	4295	6496	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.205C>G	4.37:g.95147284C>G	ENSP00000346217:p.Pro69Ala		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P69A	ENST00000354268.4	37	c.205	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126618	0.77549	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.52057	0.68;0.68;0.68	5.74	5.74	0.90152	.	0.000000	0.36972	N	0.002320	T	0.59569	0.2203	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	T	0.60732	-0.7205	10	0.66056	D	0.02	-16.9788	16.8405	0.85967	0.0:1.0:0.0:0.0	.	69;69	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	A	69	ENSP00000351947:P69A;ENSP00000415576:P69A;ENSP00000346217:P69A	ENSP00000346217:P69A	P	+	1	0	SMARCAD1	95366307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.826000	0.48104	2.712000	0.92718	0.650000	0.86243	CCA	SMARCAD1	-	NULL		0.303	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	C	NM_020159		95147284	1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95147284	C	G	95147284	3	3	63	1	0	0	0	0	1	0	0	0	14802	855	30	1	211	1	SMARCAD1	4	95147284	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	57295456	95147284	96006992	20	9840										
FBXW7	55294	genome.wustl.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	8	13	1	2	rs149680468		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505G	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247289	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153247289	G	C	153247289	3	2	63	1	0	0	0	0	1	0	0	0	5787	1116	39	2	622	2	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	58100005	153247289	37906987	21	9841										
NUP155	9631	genome.wustl.edu	37	chr5	37341341	37341341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	aagtgctaaaatataacctaAcacctgaagatggggtaaaa	8	6	0	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr5:37341341A>G	ENST00000231498.3	-	11	1300	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A	NUP155_ENST00000381843.2_Missense_Mutation_p.V307A|NUP155_ENST00000513532.1_Missense_Mutation_p.V366A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	366					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATAACCTAACACCTGAAGA	0.418																																																	0													83	76	79					5																	37341341		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1097T>C	5.37:g.37341341A>G	ENSP00000231498:p.Val366Ala		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.V366A	ENST00000231498.3	37	c.1097	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067268	0.55539	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.47869	0.83;0.83;0.83	5.42	5.42	0.78866	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.231906	0.43579	D	0.000555	T	0.68622	0.3021	M	0.79805	2.47	0.80722	D	1	B;D	0.71674	0.157;0.998	B;D	0.74348	0.153;0.983	T	0.67768	-0.5585	10	0.26408	T	0.33	-0.8528	15.7498	0.77976	1.0:0.0:0.0:0.0	.	366;366	E9PF10;O75694	.;NU155_HUMAN	A	366;307;328;366	ENSP00000231498:V366A;ENSP00000371265:V307A;ENSP00000422019:V366A	ENSP00000231498:V366A	V	-	2	0	NUP155	37377098	1.000000	0.71417	0.702000	0.30337	0.798000	0.45092	8.546000	0.90661	2.172000	0.68678	0.482000	0.46254	GTT	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N		0.418	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	A	NM_153485, NM_004298		37341341	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	0.999	G	G	37341341	A	G	37341341	3	3	63	1	0	0	0	0	1	0	0	0	10780	43	2	5	3178	5	NUP155	5	37341341	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08		37341341	143573919	22	9842										
C7	730	genome.wustl.edu	37	chr5	40964939	40964939	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cagtggccagatgtggagaaGatttacggtggcttgttggg	17	5	0	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr5:40964939G>A	ENST00000313164.9	+	14	2205	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	616	CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ATGTGGAGAAGATTTACGGTG	0.403																																																	0													163	162	162					5																	40964939		1989	4161	6150	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1846G>A	5.37:g.40964939G>A	ENSP00000322061:p.Asp616Asn		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.D616N	ENST00000313164.9	37	c.1846	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894517	0.52121	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.63913	-0.07	6.04	4.28	0.50868	Complement control module (2);Sushi/SCR/CCP (3);	0.172593	0.50627	D	0.000102	T	0.47764	0.1463	L	0.28344	0.845	0.29214	N	0.874415	B	0.20550	0.046	B	0.20184	0.028	T	0.38499	-0.9658	10	0.26408	T	0.33	-22.4408	12.4776	0.55823	0.166:0.0:0.834:0.0	.	616	P10643	CO7_HUMAN	N	616;456	ENSP00000322061:D616N	ENSP00000322061:D616N	D	+	1	0	C7	41000696	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.963000	0.40452	0.904000	0.36572	0.563000	0.77884	GAT	C7	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	G			40964939	1	no_errors	ENST00000313164	ensembl	human	known	70_37	missense	SNP	0.998	A	A	40964939	G	A	40964939	3	1	63	1	0	0	0	0	1	0	0	0	2380	942	33	1	1900	1	C7	5	40964939	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	3623598	40964939	139950321	23	9843										
PCDHA3	56145	genome.wustl.edu	37	chr5	140183220	140183220	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tccaaaatgtctttgtttttCattcctcaatgtttccactc	3	11	3	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr5:140183220C>G	ENST00000522353.2	+	1	2394				PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.S813*|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTTTTTCATTCCTCAAT	0.338																																																	0													34	43	40					5																	140183220		2200	4300	6500	SO:0001627	intron_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+44C>G	5.37:g.140183220C>G			O75286	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S813*	ENST00000522353.2	37	c.2438	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	16.38	3.107074	0.56291	.	.	ENSG00000255408	ENST00000532566	.	.	.	4.24	-8.47	0.00939	.	2.083900	0.04149	U	0.321013	.	.	.	.	.	.	0.34409	D	0.696154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8108	0.03090	0.1537:0.2878:0.0829:0.4756	.	.	.	.	X	813	.	.	S	+	2	0	PCDHA3	140163404	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-0.925000	0.03992	-2.394000	0.00583	0.467000	0.42956	TCA	PCDHA3	-	NULL		0.338	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	C	NM_018906		140183220	1	no_errors	ENST00000532566	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	140183220	C	G	140183220	1	3	63	0	1	0	0	0	0	0	0	0	11549	838	29	1		1	PCDHA3	5	140183220	Intron	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	99218281	140183220	40732040	24	9844										
HIST1H2AA	221613	genome.wustl.edu	37	chr6	25726560	25726560	+	Silent	SNP	G	G	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gcgagacgcattgcctgccaGctcaaggatttctgctgtga							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:25726560G>A	ENST00000297012.3	-	1	230	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	66						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTGCCTGCCAGCTCAAGGATT	0.512																																																	0													302	236	259					6																	25726560		2203	4300	6503	SO:0001819	synonymous_variant	221613			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.196C>T	6.37:g.25726560G>A				Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L66	ENST00000297012.3	37	c.196	CCDS4562.1	6																																																																																			HIST1H2AA	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.512	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AA	HGNC	protein_coding	OTTHUMT00000040065.1	G	NM_170745		25726560	-1	no_errors	ENST00000297012	ensembl	human	known	70_37	silent	SNP	0.995	A	A	25726560	G	A	25726560	2	1	63	1	0	0	0	0	0	0	0	1	7148	962	34	4		4	HIST1H2AA	6	25726560	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08		25726560	145388507	25	9845	51	2								
HIST1H2AA	221613	genome.wustl.edu	37	chr6	25726564	25726564	+	Silent	SNP	A	A	C													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gacgcattgcctgccagctcAaggatttctgctgtgagata							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:25726564A>C	ENST00000297012.3	-	1	226	c.192T>G	c.(190-192)ctT>ctG	p.L64L	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	64						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGCCAGCTCAAGGATTTCTG	0.507																																																	0													301	235	257					6																	25726564		2203	4300	6503	SO:0001819	synonymous_variant	221613			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.192T>G	6.37:g.25726564A>C				Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L64	ENST00000297012.3	37	c.192	CCDS4562.1	6																																																																																			HIST1H2AA	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.507	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AA	HGNC	protein_coding	OTTHUMT00000040065.1	A	NM_170745		25726564	-1	no_errors	ENST00000297012	ensembl	human	known	70_37	silent	SNP	0.997	C	C	25726564	A	C	25726564	2	2	63	1	0	0	0	0	0	0	0	1	7148	117	5	5		5	HIST1H2AA	6	25726564	Silent	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	4	25726564	145388503	26	9846	51	2								
CDKN1A	1026	genome.wustl.edu	37	chr6	36652134	36652134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccacggggccccggcgaggcCgggatgagttgggaggaggc	21	11	0	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:36652134C>T	ENST00000405375.1	+	2	491	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R120W|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R86W|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R86W	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	86					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCGGCGAGGCCGGGATGAGTT	0.657																																																	1	Substitution - Missense(1)	lung(1)											26	26	26					6																	36652134		2203	4300	6503	SO:0001583	missense	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.256C>T	6.37:g.36652134C>T	ENSP00000384849:p.Arg86Trp		Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	pfam_CDI	p.R120W	ENST00000405375.1	37	c.358	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	C	5.771	0.326696	0.10900	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.16	-1.7	0.08159	.	1.118360	0.06876	N	0.801660	T	0.24736	0.0600	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22080	0.064;0.035;0.02	B;B;B	0.12837	0.008;0.005;0.005	T	0.21655	-1.0239	10	0.72032	D	0.01	-1.0186	1.66	0.02789	0.42:0.2923:0.1259:0.1618	.	120;86;86	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	W	120;86;86;86	ENSP00000409259:R120W;ENSP00000244741:R86W;ENSP00000384849:R86W;ENSP00000362815:R86W	ENSP00000244741:R86W	R	+	1	2	CDKN1A	36760112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.407000	0.07178	-0.143000	0.11334	-0.296000	0.09543	CGG	CDKN1A	-	NULL		0.657	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	HGNC	protein_coding	OTTHUMT00000040354.1	C	NM_078467		36652134	1	no_errors	ENST00000448526	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36652134	C	T	36652134	3	4	63	1	0	0	0	0	1	0	0	0	3163	643	23	2	258	2	CDKN1A	6	36652134	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	10925570	36652134	134462933	27	9847										
UNC5CL	222643	genome.wustl.edu	37	chr6	40996165	40996165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	atcccgggcgcccccgcgctCggggcctgggctgccgccgt	16	19	0	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:40996165C>T	ENST00000373164.1	-	8	1564	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502K|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCGCGCTCGGGGCCTGGG	0.697											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12	14	13					6																	40996165		2173	4250	6423	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1504G>A	6.37:g.40996165C>T	ENSP00000362258:p.Glu502Lys	897	Q5TGU1	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.E502K	ENST00000373164.1	37	c.1504	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	C	4.664	0.123417	0.08931	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13778	2.56;2.56	4.32	-8.64	0.00874	.	4.313200	0.00744	N	0.001035	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.31833	-0.9929	10	0.14252	T	0.57	0.6004	6.1687	0.20404	0.223:0.1687:0.5266:0.0816	.	502	Q8IV45	UN5CL_HUMAN	K	502	ENSP00000244565:E502K;ENSP00000362258:E502K	ENSP00000244565:E502K	E	-	1	0	UNC5CL	41104143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.977000	0.01495	-1.294000	0.02360	-1.129000	0.01985	GAG	UNC5CL	-	NULL		0.697	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	C	NM_173561		40996165	-1	no_errors	ENST00000244565	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40996165	C	T	40996165	3	4	63	1	0	0	0	0	1	0	0	0	17025	893	31	1	56	1	UNC5CL	6	40996165	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	4344031	40996165	130118902	28	9848										
EEF1A1	1915	genome.wustl.edu	37	chr6	74228826	74228826	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gaatccattttgttaacaccGacaattagttgtttcacacc	5	10	1	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:74228826G>A	ENST00000316292.9	-	3	1441	c.450C>T	c.(448-450)gtC>gtT	p.V150V	EEF1A1_ENST00000331523.2_Silent_p.V150V|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Silent_p.V150V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	150	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGTTAACACCGACAATTAGTT	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													17	18	18					6																	74228826		1995	4130	6125	SO:0001819	synonymous_variant	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.450C>T	6.37:g.74228826G>A		1151	P04719|P04720|Q6IQ15	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.V150	ENST00000316292.9	37	c.450	CCDS4980.1	6																																																																																			EEF1A1	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	G	NM_001402		74228826	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	silent	SNP	0.997	A	A	74228826	G	A	74228826	2	1	63	1	0	0	0	0	0	0	0	1	4933	1045	37	1		1	EEF1A1	6	74228826	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	33232661	74228826	96886241	29	9849										
OPRM1	4988	genome.wustl.edu	37	chr6	154360931	154360931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tccatcgtgtgcgtggtgggGctcttcggaaacttcctggt	14	10	1	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:154360931G>T	ENST00000330432.7	+	1	489	c.252G>T	c.(250-252)ggG>ggT	p.G84G	OPRM1_ENST00000337049.4_Silent_p.G84G|OPRM1_ENST00000524163.1_Silent_p.G84G|OPRM1_ENST00000452687.2_Silent_p.G84G|OPRM1_ENST00000360422.4_Silent_p.G84G|OPRM1_ENST00000434900.2_Silent_p.G177G|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000414028.2_Silent_p.G84G|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000428397.2_Silent_p.G84G|OPRM1_ENST00000435918.2_Silent_p.G84G|OPRM1_ENST00000229768.5_Silent_p.G84G|OPRM1_ENST00000419506.2_Silent_p.G84G	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	84					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCGTGGTGGGGCTCTTCGGAA	0.597																																																	0													77	79	78					6																	154360931		2010	4178	6188	SO:0001819	synonymous_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.252G>T	6.37:g.154360931G>T			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.G177	ENST00000330432.7	37	c.531	CCDS55070.1	6																																																																																			OPRM1	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.597	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154360931	1	no_errors	ENST00000434900	ensembl	human	known	70_37	silent	SNP	0.962	T	T	154360931	G	T	154360931	2	4	63	1	0	0	0	0	0	0	0	1	10911	1190	42	4		4	OPRM1	6	154360931	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	80132105	154360931	16754136	30	9850										
ZNF479	90827	genome.wustl.edu	37	chr7	57188077	57188077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	acaggcatagggtttctctcTagtatgaattctcttatgtc	8	8	3	1	rs560371254	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:57188077T>C	ENST00000331162.4	-	5	1315	c.1045A>G	c.(1045-1047)Aga>Gga	p.R349G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	349					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.R349G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTTTCTCTCTAGTATGAATT	0.438													.|||	3	0.000599042	0	0.0029	5008	,	,		21578	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1045A>G	7.37:g.57188077T>C	ENSP00000333776:p.Arg349Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R349G	ENST00000331162.4	37	c.1045	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.820834	0.00595	.	.	ENSG00000185177	ENST00000331162	T	0.11495	2.77	0.946	-0.24	0.13047	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	N	0.00265	-1.74	0.22745	N	0.998782	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	9	0.02654	T	1	.	6.684	0.23134	0.0:0.7699:0.0:0.2301	.	349	Q96JC4	ZN479_HUMAN	G	349	ENSP00000333776:R349G	ENSP00000333776:R349G	R	-	1	2	ZNF479	57192019	0.003000	0.15002	0.015000	0.15790	0.013000	0.08279	1.442000	0.35046	-2.200000	0.00747	-2.221000	0.00296	AGA	ZNF479	-	pfscan_Znf_C2H2		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	T	XM_291202		57188077	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.998	C	C	57188077	T	C	57188077	3	2	63	1	0	0	0	0	1	0	0	0	17963	1530	53	5	533	5	ZNF479	7	57188077	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08		57188077	101950586	31	9851										
ZNF680	340252	genome.wustl.edu	37	chr7	63981679	63981679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tttgtagggtttctctctagCatgaattctcttatgattag	8	6	3	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:63981679C>T	ENST00000309683.6	-	4	1604	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTCTCTCTAGCATGAATTCTC	0.373																																																	0													65	66	65					7																	63981679		2203	4300	6503	SO:0001583	missense	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1453G>A	7.37:g.63981679C>T	ENSP00000309330:p.Ala485Thr		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A485T	ENST00000309683.6	37	c.1453	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	c	3.969	-0.008784	0.07727	.	.	ENSG00000173041	ENST00000309683	T	0.11712	2.75	1.31	-0.703	0.11261	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	N	0.00823	-1.155	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.46442	-0.9191	9	0.02654	T	1	.	3.4495	0.07493	0.0:0.4144:0.0:0.5856	.	485	Q8NEM1	ZN680_HUMAN	T	485	ENSP00000309330:A485T	ENSP00000309330:A485T	A	-	1	0	ZNF680	63619114	0.995000	0.38212	0.052000	0.19188	0.764000	0.43329	0.329000	0.19698	-0.191000	0.10448	0.478000	0.44815	GCT	ZNF680	-	pfscan_Znf_C2H2		0.373	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	C	NM_178558		63981679	-1	no_errors	ENST00000309683	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63981679	C	T	63981679	3	4	63	1	0	0	0	0	1	0	0	0	18117	710	25	4	143	4	ZNF680	7	63981679	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	6793602	63981679	95156984	32	9852										
ZNF107	51427	genome.wustl.edu	37	chr7	64168019	64168019	+	Missense_Mutation	SNP	A	A	G													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ctacaaatgtgaagaatgtgAcagagcttttagccagtctt							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168019A>G	ENST00000395391.1	+	4	2712	c.1337A>G	c.(1336-1338)gAc>gGc	p.D446G	ZNF107_ENST00000344930.3_Missense_Mutation_p.D446G|ZNF107_ENST00000423627.1_Missense_Mutation_p.D446G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAATGTGACAGAGCTTTT	0.363																																																	0													28	31	30					7																	64168019		2194	4295	6489	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1337A>G	7.37:g.64168019A>G	ENSP00000378789:p.Asp446Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D446G	ENST00000395391.1	37	c.1337	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	3.638	-0.074150	0.07184	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07444	3.19;3.19;3.19	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	N	0.00355	-1.605	0.22446	N	0.9991	B	0.06786	0.001	B	0.01281	0.0	T	0.47114	-0.9142	8	.	.	.	.	5.5135	0.16894	0.2167:0.0:0.7833:0.0	.	446	Q9UII5	ZN107_HUMAN	G	446	ENSP00000343443:D446G;ENSP00000400037:D446G;ENSP00000378789:D446G	.	D	+	2	0	ZNF107	63805454	0.707000	0.27866	0.080000	0.20451	0.910000	0.53928	0.942000	0.29017	-0.185000	0.10550	-0.642000	0.03964	GAC	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	A	NM_016220		64168019	1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.987	G	G	64168019	A	G	64168019	3	3	63	1	0	0	0	0	1	0	0	0	17745	275	10	5	1343	5	ZNF107	7	64168019	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	186340	64168019	94970644	33	9853	52	2	1	43		4	3	663	N	G_A	2.014622e-06
ZNF107	51427	genome.wustl.edu	37	chr7	64168022	64168022	+	Missense_Mutation	SNP	G	G	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	caaatgtgaagaatgtgacaGagcttttagccagtcttcaa							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168022G>A	ENST00000395391.1	+	4	2715	c.1340G>A	c.(1339-1341)aGa>aAa	p.R447K	ZNF107_ENST00000344930.3_Missense_Mutation_p.R447K|ZNF107_ENST00000423627.1_Missense_Mutation_p.R447K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAATGTGACAGAGCTTTTAGC	0.368																																																	0													28	30	29					7																	64168022		2194	4295	6489	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1340G>A	7.37:g.64168022G>A	ENSP00000378789:p.Arg447Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R447K	ENST00000395391.1	37	c.1340	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	6.164	0.398381	0.11696	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.11495	2.77;2.77;2.77	1.27	-0.77	0.11005	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00190	-1.885	0.22171	N	0.99931	B	0.19935	0.04	B	0.15484	0.013	T	0.45659	-0.9246	8	.	.	.	.	4.4148	0.11450	0.7143:0.0:0.2857:0.0	.	447	Q9UII5	ZN107_HUMAN	K	447	ENSP00000343443:R447K;ENSP00000400037:R447K;ENSP00000378789:R447K	.	R	+	2	0	ZNF107	63805457	0.158000	0.22850	0.049000	0.19019	0.911000	0.54048	1.916000	0.39986	-0.186000	0.10533	0.313000	0.20887	AGA	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	G	NM_016220		64168022	1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.891	A	A	64168022	G	A	64168022	3	1	63	1	0	0	0	0	1	0	0	0	17745	942	33	1	1346	1	ZNF107	7	64168022	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	3	64168022	94970641	34	9854	52	2	1	43		4	3	663	N	G_A	2.014622e-06
ZNF107	51427	genome.wustl.edu	37	chr7	64168637	64168637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	taactgctcctcaacccttaAtagacataagataattcata	3	10	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168637A>C	ENST00000395391.1	+	4	3330	c.1955A>C	c.(1954-1956)aAt>aCt	p.N652T	ZNF107_ENST00000344930.3_Missense_Mutation_p.N652T|ZNF107_ENST00000423627.1_Missense_Mutation_p.N652T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	652					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCAACCCTTAATAGACATAAG	0.368																																																	0													30	34	33					7																	64168637		2187	4293	6480	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1955A>C	7.37:g.64168637A>C	ENSP00000378789:p.Asn652Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N652T	ENST00000395391.1	37	c.1955	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	1.528	-0.545101	0.04024	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.35421	1.31;1.31;1.31	1.27	-2.54	0.06307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17619	0.0423	N	0.24115	0.695	0.09310	N	1	B	0.17852	0.024	B	0.15484	0.013	T	0.24368	-1.0162	8	.	.	.	.	2.3561	0.04296	0.5097:0.2444:0.0:0.2459	.	652	Q9UII5	ZN107_HUMAN	T	652	ENSP00000343443:N652T;ENSP00000400037:N652T;ENSP00000378789:N652T	.	N	+	2	0	ZNF107	63806072	0.000000	0.05858	0.047000	0.18901	0.912000	0.54170	-2.276000	0.01161	-0.453000	0.07076	0.260000	0.18958	AAT	ZNF107	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	A	NM_016220		64168637	1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.339	C	C	64168637	A	C	64168637	3	2	63	1	0	0	0	0	1	0	0	0	17745	101	4	5	1961	5	ZNF107	7	64168637	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	615	64168637	94970026	35	9855			1	43		4	3	663	N	G_A	2.014622e-06
ZNF107	51427	genome.wustl.edu	37	chr7	64168681	64168681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gagagaaaccttacaaatgtAaagaatgtggcaaagctttt	9	5	0	2	rs141851083		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168681A>G	ENST00000395391.1	+	4	3374	c.1999A>G	c.(1999-2001)Aaa>Gaa	p.K667E	ZNF107_ENST00000344930.3_Missense_Mutation_p.K667E|ZNF107_ENST00000423627.1_Missense_Mutation_p.K667E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	667					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.K667E(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTACAAATGTAAAGAATGTGG	0.378																																																	1	Substitution - Missense(1)	stomach(1)																																								SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1999A>G	7.37:g.64168681A>G	ENSP00000378789:p.Lys667Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K667E	ENST00000395391.1	37	c.1999	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	7.048	0.563795	0.13498	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07567	3.18;3.18;3.18	1.27	-2.54	0.06307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	N	0.01631	-0.79	0.09310	N	1	B	0.19935	0.04	B	0.20955	0.032	T	0.47898	-0.9081	8	.	.	.	.	5.4449	0.16529	0.5546:0.4453:0.0:0.0	.	667	Q9UII5	ZN107_HUMAN	E	667	ENSP00000343443:K667E;ENSP00000400037:K667E;ENSP00000378789:K667E	.	K	+	1	0	ZNF107	63806116	0.000000	0.05858	0.424000	0.26647	0.975000	0.68041	-6.845000	0.00052	-0.453000	0.07076	0.260000	0.18958	AAA	ZNF107	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	A	NM_016220		64168681	1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.104	G	G	64168681	A	G	64168681	3	3	63	1	0	0	0	0	1	0	0	0	17745	363	13	5	2005	5	ZNF107	7	64168681	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	44	64168681	94969982	36	9856			1	43		4	3	663	N	G_A	2.014622e-06
ZNF117	51351	genome.wustl.edu	37	chr7	64439463	64439463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tctttacatttgtaaggtttTtctccagtatgaattctctt	5	7	3	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64439463T>C	ENST00000282869.6	-	4	1770	c.486A>G	c.(484-486)gaA>gaG	p.E162E		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTAAGGTTTTTCTCCAGTAT	0.358																																																	0													48	50	49					7																	64439463		2143	4266	6409	SO:0001819	synonymous_variant	51351			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.486A>G	7.37:g.64439463T>C			Q02313|Q7Z7Q7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E162	ENST00000282869.6	37	c.486	CCDS43593.1	7																																																																																			ZNF117	-	pfscan_Znf_C2H2		0.358	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3	T	NM_024498		64439463	-1	no_errors	ENST00000282869	ensembl	human	known	70_37	silent	SNP	0.999	C	C	64439463	T	C	64439463	2	2	63	1	0	0	0	0	0	0	0	1	17747	1838	64	5		5	ZNF117	7	64439463	Silent	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	270782	64439463	94699200	37	9857										
TBL2	26608	genome.wustl.edu	37	chr7	72984894	72984894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tgggcctgggtcagctgctgCtgcagcctctggcgggtgct	17	12	2	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:72984894C>A	ENST00000305632.5	-	7	1528	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.Q393H	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	429							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCAGCTGCTGCTGCAGCCTCT	0.647																																																	0													14	15	15					7																	72984894		2202	4294	6496	SO:0001583	missense	26608			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1287G>T	7.37:g.72984894C>A	ENSP00000307260:p.Gln429His		Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q429H	ENST00000305632.5	37	c.1287	CCDS5551.1	7	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215907	0.39201	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.56776	0.44;3.57	5.98	1.49	0.22878	.	0.101955	0.64402	D	0.000002	T	0.34424	0.0897	L	0.31065	0.9	0.80722	D	1	B;B	0.19583	0.013;0.037	B;B	0.12837	0.005;0.008	T	0.11324	-1.0592	10	0.56958	D	0.05	-30.6188	5.22	0.15364	0.1431:0.5076:0.0:0.3493	.	393;429	E9PF19;Q9Y4P3	.;TBL2_HUMAN	H	429;429;393	ENSP00000307260:Q429H;ENSP00000413979:Q393H	ENSP00000307260:Q429H	Q	-	3	2	TBL2	72622830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.439000	0.35013	0.351000	0.24027	-0.136000	0.14681	CAG	TBL2	-	NULL		0.647	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	C	NM_012453		72984894	-1	no_errors	ENST00000305632	ensembl	human	known	70_37	missense	SNP	0.998	A	A	72984894	C	A	72984894	3	1	63	1	0	0	0	0	1	0	0	0	15672	796	28	4	60	4	TBL2	7	72984894	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	8545431	72984894	86153769	38	9858										
CLDN3	1365	genome.wustl.edu	37	chr7	73183783	73183783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gggccggtggagcgcggcgcGgagtagacgaccttggtggc	21	10	0	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:73183783G>A	ENST00000395145.2	-	1	817	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	199					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				AGCGCGGCGCGGAGTAGACGA	0.711																																																	0													32	31	31					7																	73183783		2193	4280	6473	SO:0001819	synonymous_variant	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.597C>T	7.37:g.73183783G>A				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3	p.S199	ENST00000395145.2	37	c.597	CCDS5559.1	7																																																																																			CLDN3	-	prints_Claudin3		0.711	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN3	HGNC	protein_coding	OTTHUMT00000252310.1	G	NM_001306		73183783	-1	no_errors	ENST00000395145	ensembl	human	known	70_37	silent	SNP	0.282	A	A	73183783	G	A	73183783	2	1	63	1	0	0	0	0	0	0	0	1	3491	1103	39	2		2	CLDN3	7	73183783	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	198889	73183783	85954880	39	9859										
TMEM130	222865	genome.wustl.edu	37	chr7	98452918	98452918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gaaggtctgaattagggtggGccccaacacttggatgcctc	13	10	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:98452918G>T	ENST00000416379.2	-	5	752	c.748C>A	c.(748-750)Ccc>Acc	p.P250T	TMEM130_ENST00000345589.4_Missense_Mutation_p.P148T|TMEM130_ENST00000546258.1_Missense_Mutation_p.P231T|TMEM130_ENST00000339375.4_Missense_Mutation_p.P250T|TMEM130_ENST00000450876.1_Missense_Mutation_p.P166T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	250						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTAGGGTGGGCCCCAACACT	0.587																																																	0													127	115	119					7																	98452918		2203	4300	6503	SO:0001583	missense	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.748C>A	7.37:g.98452918G>T	ENSP00000413163:p.Pro250Thr		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	superfamily_PKD_dom,pfscan_PKD_dom	p.P250T	ENST00000416379.2	37	c.748	CCDS47650.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621585	0.46736	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.01	3.11	0.35812	.	0.204155	0.42548	D	0.000690	T	0.17577	0.0422	L	0.51422	1.61	0.09310	N	1	D;P;D;D	0.54964	0.965;0.932;0.965;0.969	P;P;P;P	0.53146	0.719;0.719;0.719;0.7	T	0.05716	-1.0868	10	0.26408	T	0.33	-34.6371	6.8742	0.24137	0.1243:0.0:0.8757:0.0	.	250;231;250;148	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	T	250;250;166;148;231	ENSP00000413163:P250T;ENSP00000341256:P250T;ENSP00000390200:P166T;ENSP00000330262:P148T;ENSP00000445869:P231T	ENSP00000341256:P250T	P	-	1	0	TMEM130	98290854	0.905000	0.30787	0.164000	0.22755	0.957000	0.61999	2.637000	0.46553	2.214000	0.71695	0.557000	0.71058	CCC	TMEM130	-	NULL		0.587	TMEM130-008	KNOWN	basic|CCDS	protein_coding	TMEM130	HGNC	protein_coding	OTTHUMT00000380713.1	G	NM_152913		98452918	-1	no_errors	ENST00000416379	ensembl	human	known	70_37	missense	SNP	0.036	T	T	98452918	G	T	98452918	3	4	63	1	0	0	0	0	1	0	0	0	16073	1203	42	4	575	4	TMEM130	7	98452918	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	25269135	98452918	60685745	40	9860										
RINT1	60561	genome.wustl.edu	37	chr7	105177177	105177178	+	Missense_Mutation	DNP	AA	AA	CT													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	agaacagaggacagtaagtaAaatgcagttagaagaacagg							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:105177177_105177178AA>CT	ENST00000257700.2	+	3	485_486	c.254_255AA>CT	c.(253-255)aAA>aCT	p.K85T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGTAAGTAAAATGCAGTTAG	0.282																																																	0																																										SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	Exception_encountered	7.37:g.105177177_105177178delinsCT	ENSP00000257700:p.Lys85Thr		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	pfam_RINT1_TIP1	p.K85T|p.K85N	ENST00000257700.2	37	c.254|c.255	CCDS34726.1	7																																																																																			RINT1	-	NULL		0.282	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	A	NM_021930		105177177|105177178	1	no_errors	ENST00000257700	ensembl	human	known	70_37	missense	SNP	1.000|0.995	C|T	CT	105177178	AA	CT	105177177	3	2	63	1	0	0	0	0	1	0	0	0	13406	14	1	5	264	5	RINT1	7	105177177	Missense_Mutation	DNP	AA	TCGA-DS-A1OA-01A-11D-A16Y-08	6724259	105177177	53961486	41	9861										
ZBTB10	65986	genome.wustl.edu	37	chr8	81411855	81411855	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	aaggtattctttgtgatgtcAgcattgtggtaagcggaaaa	12	4	2	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr8:81411855A>T	ENST00000430430.1	+	3	1878	c.1099A>T	c.(1099-1101)Agc>Tgc	p.S367C	ZBTB10_ENST00000455036.3_Missense_Mutation_p.S367C|ZBTB10_ENST00000426744.2_Missense_Mutation_p.S367C|ZBTB10_ENST00000379091.4_Missense_Mutation_p.S75C	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	367	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGTGATGTCAGCATTGTGGT	0.368																																																	0													70	71	71					8																	81411855		1890	4119	6009	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1099A>T	8.37:g.81411855A>T	ENSP00000387462:p.Ser367Cys		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S367C	ENST00000430430.1	37	c.1099	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483987	0.44147	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.54	4.18	0.49190	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.101962	0.64402	D	0.000006	T	0.61438	0.2347	N	0.13299	0.325	0.37760	D	0.926304	D;D;D;D	0.69078	0.97;0.997;0.993;0.997	P;P;P;P	0.60173	0.84;0.87;0.724;0.849	T	0.61287	-0.7093	10	0.22109	T	0.4	.	12.0058	0.53259	0.9216:0.0:0.0784:0.0	.	223;367;367;75	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	C	75;367;367;367;195	ENSP00000368384:S75C;ENSP00000387462:S367C;ENSP00000412036:S367C;ENSP00000416134:S367C	ENSP00000368384:S75C	S	+	1	0	ZBTB10	81574410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.144000	0.77357	2.113000	0.64589	0.528000	0.53228	AGC	ZBTB10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.368	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	A	NM_023929		81411855	1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81411855	A	T	81411855	3	4	63	1	0	0	0	0	1	0	0	0	17553	188	7	5	1105	5	ZBTB10	8	81411855	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08		81411855	64952167	42	9862										
FLJ46321	389763	genome.wustl.edu	37	chr9	84608110	84608110	+	Missense_Mutation	SNP	A	A	T													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tgttggaagcccatattaaaActttccgtatgaggatgctg							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:84608110A>T	ENST00000344803.2	+	4	2772	c.2725A>T	c.(2725-2727)Act>Tct	p.T909S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	909					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATATTAAAACTTTCCGTAT	0.438																																																	0													51	48	49					9																	84608110		1846	4082	5928	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2725A>T	9.37:g.84608110A>T	ENSP00000341988:p.Thr909Ser			Missense_Mutation	SNP	NULL	p.T909S	ENST00000344803.2	37	c.2725	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.812635	0.00600	.	.	ENSG00000214929	ENST00000344803	T	0.38240	1.15	3.09	-6.17	0.02091	.	2.969970	0.00633	N	0.000487	T	0.10078	0.0247	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	10	0.18710	T	0.47	13.8535	5.8601	0.18743	0.4281:0.421:0.0:0.1509	.	909	Q6ZQQ2	F75D1_HUMAN	S	909	ENSP00000341988:T909S	ENSP00000341988:T909S	T	+	1	0	FAM75D1	83797930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.172000	0.16704	-0.828000	0.04273	-2.557000	0.00176	ACT	SPATA31D1	-	NULL		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	A	NM_001001670		84608110	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	T	T	84608110	A	T	84608110	3	4	63	1	0	0	0	0	1	0	0	0	5950	43	2	5	2739	5	FLJ46321	9	84608110	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08		84608110	56605321	43	9863	53	2								
FLJ46321	389763	genome.wustl.edu	37	chr9	84608117	84608117	+	Missense_Mutation	SNP	G	G	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	agcccatattaaaactttccGtatgaggatgctgtggggcc					rs111996284	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:84608117G>A	ENST00000344803.2	+	4	2779	c.2732G>A	c.(2731-2733)cGt>cAt	p.R911H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	911					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAACTTTCCGTATGAGGATG	0.443																																																	0													51	47	49					9																	84608117		1851	4085	5936	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2732G>A	9.37:g.84608117G>A	ENSP00000341988:p.Arg911His			Missense_Mutation	SNP	NULL	p.R911H	ENST00000344803.2	37	c.2732	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	g	1.811	-0.474758	0.04414	.	.	ENSG00000214929	ENST00000344803	T	0.06933	3.24	3.09	-5.58	0.02512	.	3.225700	0.00622	N	0.000447	T	0.06917	0.0176	L	0.31664	0.95	0.09310	N	1	B	0.24651	0.108	B	0.18561	0.022	T	0.27739	-1.0065	10	0.33940	T	0.23	15.0484	10.0014	0.41931	0.3638:0.0:0.6362:0.0	.	911	Q6ZQQ2	F75D1_HUMAN	H	911	ENSP00000341988:R911H	ENSP00000341988:R911H	R	+	2	0	FAM75D1	83797937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.138000	0.00587	-1.272000	0.02427	-1.345000	0.01243	CGT	SPATA31D1	-	NULL		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84608117	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	A	A	84608117	G	A	84608117	3	1	63	1	0	0	0	0	1	0	0	0	5950	1145	40	2	2746	2	FLJ46321	9	84608117	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	7	84608117	56605314	44	9864	53	2								
TLR4	7099	genome.wustl.edu	37	chr9	120475463	120475463	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccacattgaaactcaaatctCtcaaaaggcttactttcact	3	12	4	1	rs148638298		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:120475463C>T	ENST00000355622.6	+	3	1158	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L313F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	353					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L353F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTCAAATCTCTCAAAAGGCT	0.353																																																	1	Substitution - Missense(1)	skin(1)											56	61	59					9																	120475463		2202	4300	6502	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1057C>T	9.37:g.120475463C>T	ENSP00000363089:p.Leu353Phe		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L353F	ENST00000355622.6	37	c.1057	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366985	0.41902	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.66995	-0.24;-0.24	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000035	T	0.69584	0.3127	L	0.33485	1.01	0.43673	D	0.9961	D	0.89917	1.0	D	0.97110	1.0	T	0.72077	-0.4399	10	0.87932	D	0	.	5.7761	0.18279	0.1892:0.6948:0.0:0.1161	.	353	O00206	TLR4_HUMAN	F	313;353	ENSP00000377997:L313F;ENSP00000363089:L353F	ENSP00000363089:L353F	L	+	1	0	TLR4	119515284	0.978000	0.34361	0.992000	0.48379	0.075000	0.17131	0.711000	0.25764	2.621000	0.88768	0.655000	0.94253	CTC	TLR4	-	pirsf_Toll-like_receptor		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	C	NM_138554		120475463	1	no_errors	ENST00000355622	ensembl	human	known	70_37	missense	SNP	0.986	T	T	120475463	C	T	120475463	3	4	63	1	0	0	0	0	1	0	0	0	15983	913	32	1	1067	1	TLR4	9	120475463	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	35867346	120475463	20737968	45	9865										
TRUB2	26995	genome.wustl.edu	37	chr9	131072104	131072104	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ctttagttccaggccgatttCatgaaccaacttccgcagct	7	13	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:131072104C>G	ENST00000372890.4	-	8	1054	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	TRUB2_ENST00000546104.1_Missense_Mutation_p.E185Q|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	241					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGGCCGATTTCATGAACCAAC	0.577																																																	0													127	103	111					9																	131072104		2203	4300	6503	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.721G>C	9.37:g.131072104C>G	ENSP00000361982:p.Glu241Gln		B7Z7G5	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.E241Q	ENST00000372890.4	37	c.721	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004364	0.74932	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.14266	2.52;2.52	5.56	5.56	0.83823	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.43491	-0.9388	10	0.87932	D	0	-23.5751	19.5251	0.95201	0.0:1.0:0.0:0.0	.	241	O95900	TRUB2_HUMAN	Q	241;185	ENSP00000361982:E241Q;ENSP00000438084:E185Q	ENSP00000361982:E241Q	E	-	1	0	TRUB2	130111925	1.000000	0.71417	0.976000	0.42696	0.195000	0.23768	6.782000	0.75073	2.613000	0.88420	0.561000	0.74099	GAA	TRUB2	-	superfamily_PsdUridine_synth_cat_dom		0.577	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	C	NM_015679		131072104	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131072104	C	G	131072104	3	3	63	1	0	0	0	0	1	0	0	0	16634	835	29	1	278	1	TRUB2	9	131072104	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	10596641	131072104	10141327	46	9866										
NSUN6	221078	genome.wustl.edu	37	chr10	18937524	18937524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ggatgtgacaggtgctttaaCaaagtttcaaacttcctttc	8	8	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:18937524C>T	ENST00000377304.4	-	2	544	c.126G>A	c.(124-126)ttG>ttA	p.L42L	RP11-139J15.7_ENST00000606425.1_Silent_p.L30L	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	42							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTGCTTTAACAAAGTTTCAA	0.343																																																	0													206	194	198					10																	18937524		2203	4299	6502	SO:0001819	synonymous_variant	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.126G>A	10.37:g.18937524C>T			B0YJ54	Silent	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.L42	ENST00000377304.4	37	c.126	CCDS7130.1	10																																																																																			NSUN6	-	NULL		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	C	NM_182543		18937524	-1	no_errors	ENST00000377304	ensembl	human	known	70_37	silent	SNP	0.963	T	T	18937524	C	T	18937524	2	4	63	1	0	0	0	0	0	0	0	1	10706	477	17	4		4	NSUN6	10	18937524	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		18937524	116597223	47	9867										
CBARA1	10367	genome.wustl.edu	37	chr10	74128100	74128100	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gaaacaaattccttattgctCagttcgccattgcctagagg	8	10	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:74128100C>T	ENST00000361114.5	-	12	1380	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	MICU1_ENST00000418483.2_Silent_p.L230L|MICU1_ENST00000401998.3_Silent_p.L428L|MICU1_ENST00000398763.4_Silent_p.L230L|MICU1_ENST00000398761.4_Silent_p.L430L	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	428	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CCTTATTGCTCAGTTCGCCAT	0.468																																																	0													82	78	79					10																	74128100		1954	4135	6089	SO:0001819	synonymous_variant	10367			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1284G>A	10.37:g.74128100C>T			A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L430	ENST00000361114.5	37	c.1290	CCDS55715.1	10																																																																																			MICU1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.468	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	MICU1	HGNC	protein_coding	OTTHUMT00000048586.1	C	NM_006077		74128100	-1	no_errors	ENST00000398761	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74128100	C	T	74128100	2	4	63	1	0	0	0	0	0	0	0	1	2701	813	29	1		1	CBARA1	10	74128100	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	55190576	74128100	61406647	48	9868										
PNLIP	5406	genome.wustl.edu	37	chr10	118314792	118314792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	aattcacacggatggtgcccCcatagtccccaatttgggtg	10	12	1	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:118314792C>T	ENST00000369221.2	+	7	702	c.674C>T	c.(673-675)cCc>cTc	p.P225L		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	225					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GATGGTGCCCCCATAGTCCCC	0.473																																																	0													74	68	70					10																	118314792		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.674C>T	10.37:g.118314792C>T	ENSP00000358223:p.Pro225Leu		Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.P225L	ENST00000369221.2	37	c.674	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611836	0.46631	.	.	ENSG00000175535	ENST00000369221	D	0.91124	-2.79	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.077976	0.56097	D	0.000035	D	0.93190	0.7831	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.92561	0.6058	10	0.51188	T	0.08	.	14.877	0.70501	0.1441:0.8559:0.0:0.0	.	225	P16233	LIPP_HUMAN	L	225	ENSP00000358223:P225L	ENSP00000358223:P225L	P	+	2	0	PNLIP	118304782	0.921000	0.31238	0.224000	0.23877	0.161000	0.22273	2.769000	0.47654	2.890000	0.99128	0.585000	0.79938	CCC	PNLIP	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc		0.473	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	C	NM_000936		118314792	1	no_errors	ENST00000369221	ensembl	human	known	70_37	missense	SNP	0.929	T	T	118314792	C	T	118314792	3	4	63	1	0	0	0	0	1	0	0	0	12173	623	22	4	696	4	PNLIP	10	118314792	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	44186692	118314792	17219955	49	9869										
PCNXL3	399909	genome.wustl.edu	37	chr11	65402860	65402860	+	Missense_Mutation	SNP	T	T	C													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gccatgtcctggatgatgccTccgacgagtacaagatcatc							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:65402860T>C	ENST00000355703.3	+	31	5664	c.5125T>C	c.(5125-5127)Tcc>Ccc	p.S1709P	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1709						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGATGATGCCTCCGACGAGTA	0.642																																																	0													23	24	24					11																	65402860		2077	4205	6282	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5125T>C	11.37:g.65402860T>C	ENSP00000347931:p.Ser1709Pro		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.S1709P	ENST00000355703.3	37	c.5125	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154372	0.38021	.	.	ENSG00000197136	ENST00000355703	T	0.46063	0.88	4.11	4.11	0.48088	.	0.138748	0.49916	D	0.000131	T	0.58452	0.2123	M	0.80847	2.515	0.32798	N	0.500296	D;D	0.64830	0.994;0.982	P;P	0.62649	0.905;0.902	T	0.69555	-0.5114	10	0.56958	D	0.05	.	6.8305	0.23907	0.2072:0.0:0.0:0.7928	.	596;1709	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	P	1709	ENSP00000347931:S1709P	ENSP00000347931:S1709P	S	+	1	0	PCNXL3	65159436	1.000000	0.71417	0.756000	0.31282	0.154000	0.21943	4.127000	0.57944	1.740000	0.51718	0.379000	0.24179	TCC	PCNXL3	-	pfam_Pecanex		0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	T	NM_032223		65402860	1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	0.991	C	C	65402860	T	C	65402860	3	2	63	1	0	0	0	0	1	0	0	0	11617	1551	54	5	5247	5	PCNXL3	11	65402860	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08		65402860	69603656	50	9870	54	2								
PCNXL3	399909	genome.wustl.edu	37	chr11	65402863	65402863	+	Missense_Mutation	SNP	G	G	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	atgtcctggatgatgcctccGacgagtacaagatcatcatg							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:65402863G>A	ENST00000355703.3	+	31	5667	c.5128G>A	c.(5128-5130)Gac>Aac	p.D1710N	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1710						integral component of membrane (GO:0016021)		p.D1710N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGATGCCTCCGACGAGTACAA	0.637																																																	1	Substitution - Missense(1)	lung(1)											22	23	23					11																	65402863		2068	4204	6272	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5128G>A	11.37:g.65402863G>A	ENSP00000347931:p.Asp1710Asn		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.D1710N	ENST00000355703.3	37	c.5128	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846721	0.32606	.	.	ENSG00000197136	ENST00000355703	T	0.49139	0.79	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.38838	1.175	0.40014	D	0.975326	B;D	0.76494	0.036;0.999	B;D	0.66716	0.025;0.946	T	0.42103	-0.9471	10	0.17369	T	0.5	.	7.6633	0.28415	0.1137:0.0:0.8863:0.0	.	597;1710	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	N	1710	ENSP00000347931:D1710N	ENSP00000347931:D1710N	D	+	1	0	PCNXL3	65159439	1.000000	0.71417	0.148000	0.22405	0.150000	0.21749	4.175000	0.58263	2.142000	0.66516	0.462000	0.41574	GAC	PCNXL3	-	pfam_Pecanex		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	G	NM_032223		65402863	1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	0.993	A	A	65402863	G	A	65402863	3	1	63	1	0	0	0	0	1	0	0	0	11617	1058	37	1	5250	1	PCNXL3	11	65402863	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	3	65402863	69603653	51	9871	54	2								
GRIA4	2893	genome.wustl.edu	37	chr11	105804604	105804604	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccactatgaatgaatacattGagcagcgaaagccatgtgac	9	9	0	4			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:105804604G>C	ENST00000530497.1	+	13	2203	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	GRIA4_ENST00000525187.1_Missense_Mutation_p.E735Q|AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000393127.2_Missense_Mutation_p.E735Q|GRIA4_ENST00000282499.5_Missense_Mutation_p.E735Q			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	735					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGAATACATTGAGCAGCGAAA	0.483																																																	0													104	90	95					11																	105804604		2202	4299	6501	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2203G>C	11.37:g.105804604G>C	ENSP00000435775:p.Glu735Gln		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E735Q	ENST00000530497.1	37	c.2203	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707382	0.89018	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000003	T	0.56352	0.1979	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.979;0.998	T	0.56050	-0.8043	10	0.62326	D	0.03	.	19.4058	0.94647	0.0:0.0:1.0:0.0	.	735;735	P48058;G3V164	GRIA4_HUMAN;.	Q	735;735;735;735;40	ENSP00000282499:E735Q;ENSP00000376835:E735Q;ENSP00000435775:E735Q;ENSP00000432180:E735Q	ENSP00000282499:E735Q	E	+	1	0	GRIA4	105309814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.754000	0.98908	2.591000	0.87537	0.585000	0.79938	GAG	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.483	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	G			105804604	1	no_errors	ENST00000282499	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105804604	G	C	105804604	3	2	63	1	0	0	0	0	1	0	0	0	6790	1291	45	1	2290	1	GRIA4	11	105804604	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	40401741	105804604	29201912	52	9872										
CACNA2D4	93589	genome.wustl.edu	37	chr12	1995484	1995484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cctcagccccttcatactgcCgctcacgtccaccaaaatca	4	19	4	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:1995484C>T	ENST00000382722.5	-	8	1260	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G236S|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G300S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G236S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G300S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	300	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTCATACTGCCGCTCACGTCC	0.488																																					Colon(2;101 179 21030 23310 28141)												0													126	123	124					12																	1995484		2096	4225	6321	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.898G>A	12.37:g.1995484C>T	ENSP00000372169:p.Gly300Ser		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G300S	ENST00000382722.5	37	c.898	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.546022	0.96488	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.19938	2.11	5.17	5.17	0.71159	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.53613	-0.8414	10	0.62326	D	0.03	.	18.6838	0.91557	0.0:1.0:0.0:0.0	.	300	Q7Z3S7	CA2D4_HUMAN	S	236;300;300	ENSP00000372169:G300S	ENSP00000280663:G300S	G	-	1	0	CACNA2D4	1865745	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	7.650000	0.83521	2.419000	0.82065	0.655000	0.94253	GGC	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.488	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	C			1995484	-1	no_errors	ENST00000382722	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1995484	C	T	1995484	3	4	63	1	0	0	0	0	1	0	0	0	2556	652	23	2	2639	2	CACNA2D4	12	1995484	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		1995484	131856411	53	9873										
TAS2R19	259294	genome.wustl.edu	37	chr12	11174657	11174657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	agtcaagcttgaaaggtgtaTtgcattcctcaatttgatct	8	7	3	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:11174657T>C	ENST00000390673.2	-	1	562	c.514A>G	c.(514-516)Ata>Gta	p.I172V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	172					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GAAAGGTGTATTGCATTCCTC	0.363																																																	0													195	174	181					12																	11174657		2203	4300	6503	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.514A>G	12.37:g.11174657T>C	ENSP00000375091:p.Ile172Val		Q3MIJ4|Q645X8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.I172V	ENST00000390673.2	37	c.514	CCDS8640.1	12	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.286771	0.00248	.	.	ENSG00000212124	ENST00000390673	T	0.00705	5.81	2.49	-4.98	0.03019	.	2.791030	0.02000	N	0.046209	T	0.00440	0.0014	N	0.11255	0.115	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46289	-0.9202	10	0.02654	T	1	.	1.4453	0.02363	0.1817:0.1453:0.1291:0.5439	.	172	P59542	T2R19_HUMAN	V	172	ENSP00000375091:I172V	ENSP00000375091:I172V	I	-	1	0	TAS2R19	11065924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.658000	0.00202	-2.161000	0.00785	-0.904000	0.02843	ATA	TAS2R19	-	pfam_TAS2_rcpt		0.363	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1	T	NM_176888		11174657	-1	no_errors	ENST00000390673	ensembl	human	known	70_37	missense	SNP	0.000	C	C	11174657	T	C	11174657	3	2	63	1	0	0	0	0	1	0	0	0	15600	1493	52	5	388	5	TAS2R19	12	11174657	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	9179173	11174657	122677238	54	9874										
ADCY6	112	genome.wustl.edu	37	chr12	49165635	49165635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	actcacacgactgatagtagAgttcatcattgcggcgctcc	9	12	3	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:49165635A>G	ENST00000307885.4	-	18	3603	c.2909T>C	c.(2908-2910)cTc>cCc	p.L970P	ADCY6_ENST00000550422.1_Missense_Mutation_p.L917P|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Missense_Mutation_p.L917P|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	970					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGATAGTAGAGTTCATCATT	0.547																																																	0													112	90	98					12																	49165635		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2909T>C	12.37:g.49165635A>G	ENSP00000311405:p.Leu970Pro		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L970P	ENST00000307885.4	37	c.2909	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808665	0.90707	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.84223	-1.77;-1.77;-1.82	5.85	5.85	0.93711	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000002	D	0.93432	0.7905	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94433	0.7651	10	0.87932	D	0	.	15.5289	0.75936	1.0:0.0:0.0:0.0	.	201;917;970	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	P	917;917;970	ENSP00000350536:L917P;ENSP00000446730:L917P;ENSP00000311405:L970P	ENSP00000311405:L970P	L	-	2	0	ADCY6	47451902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.371000	0.80710	0.533000	0.62120	CTC	ADCY6	-	smart_A/G_cyclase		0.547	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	A	NM_020983		49165635	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49165635	A	G	49165635	3	3	63	1	0	0	0	0	1	0	0	0	298	304	11	5	613	5	ADCY6	12	49165635	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	37990978	49165635	84686260	55	9875										
OR6C6	283365	genome.wustl.edu	37	chr12	55688303	55688303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	acaatcatgtgggaagtacaGgtggaaaatgctttgttcct	11	6	1	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:55688303G>A	ENST00000358433.2	-	1	713	c.714C>T	c.(712-714)acC>acT	p.T238T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGAAGTACAGGTGGAAAATG	0.383																																																	0													113	120	117					12																	55688303		2203	4300	6503	SO:0001819	synonymous_variant	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.714C>T	12.37:g.55688303G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T238	ENST00000358433.2	37	c.714	CCDS31817.1	12																																																																																			OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.383	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	G			55688303	-1	no_errors	ENST00000358433	ensembl	human	known	70_37	silent	SNP	0.989	A	A	55688303	G	A	55688303	2	1	63	1	0	0	0	0	0	0	0	1	11218	987	35	4		4	OR6C6	12	55688303	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	6522668	55688303	78163592	56	9876										
OR6C6	283365	genome.wustl.edu	37	chr12	55688775	55688775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tgtctctagtcacaatggttAtcaagaatctaggaatacac	7	8	4	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:55688775A>G	ENST00000358433.2	-	1	241	c.242T>C	c.(241-243)aTa>aCa	p.I81T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CACAATGGTTATCAAGAATCT	0.373																																																	0													46	49	48					12																	55688775		2203	4300	6503	SO:0001583	missense	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.242T>C	12.37:g.55688775A>G	ENSP00000351211:p.Ile81Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I81T	ENST00000358433.2	37	c.242	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.752735	0.00663	.	.	ENSG00000188324	ENST00000358433	T	0.00388	7.59	4.22	-2.61	0.06171	GPCR, rhodopsin-like superfamily (1);	0.951972	0.08654	N	0.913505	T	0.00109	0.0003	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18178	-1.0345	10	0.30854	T	0.27	.	0.9973	0.01470	0.2433:0.1198:0.3177:0.3192	.	81	A6NF89	OR6C6_HUMAN	T	81	ENSP00000351211:I81T	ENSP00000351211:I81T	I	-	2	0	OR6C6	53975042	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.511000	0.00446	-0.221000	0.09973	-0.801000	0.03215	ATA	OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.373	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	A			55688775	-1	no_errors	ENST00000358433	ensembl	human	known	70_37	missense	SNP	0.000	G	G	55688775	A	G	55688775	3	3	63	1	0	0	0	0	1	0	0	0	11218	449	16	5	704	5	OR6C6	12	55688775	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	472	55688775	78163120	57	9877										
ZIC5	85416	genome.wustl.edu	37	chr13	100622636	100622636	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	catggtgccgaaagttttggAgcagggcttggcgccgccgg	17	10	0	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr13:100622636A>T	ENST00000267294.4	-	1	1527	c.1294T>A	c.(1294-1296)Tcc>Acc	p.S432T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	432					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGTTTTGGAGCAGGGCTTG	0.736																																																	0													26	26	26					13																	100622636		2203	4299	6502	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1294T>A	13.37:g.100622636A>T	ENSP00000267294:p.Ser432Thr		Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S432T	ENST00000267294.4	37	c.1294	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650361	0.47362	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.50001	0.76	3.86	2.63	0.31362	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.32763	0.0840	L	0.29908	0.895	0.42902	D	0.994236	B	0.23990	0.095	B	0.21917	0.037	T	0.07927	-1.0747	9	0.37606	T	0.19	.	8.4325	0.32766	0.8248:0.0:0.0:0.1752	.	432	Q96T25	ZIC5_HUMAN	T	70;432	ENSP00000267294:S432T	ENSP00000267294:S432T	S	-	1	0	ZIC5	99420637	0.997000	0.39634	0.997000	0.53966	0.921000	0.55340	0.941000	0.29005	0.502000	0.28037	0.247000	0.18012	TCC	ZIC5	-	smart_Znf_C2H2-like		0.736	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	A	NM_033132		100622636	-1	no_errors	ENST00000267294	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	100622636	A	T	100622636	3	4	63	1	0	0	0	0	1	0	0	0	17712	304	11	5	705	5	ZIC5	13	100622636	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08		100622636	14547242	58	9878										
OR4E2	26686	genome.wustl.edu	37	chr14	22133797	22133797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ttcttgactattcgtctaccTtactgtggccccaacattat	5	12	2	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr14:22133797T>C	ENST00000408935.1	+	1	501	c.501T>C	c.(499-501)ccT>ccC	p.P167P		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCGTCTACCTTACTGTGGCC	0.458																																																	0													165	156	159					14																	22133797		1995	4204	6199	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.501T>C	14.37:g.22133797T>C			Q6IET6|Q96R62	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P167	ENST00000408935.1	37	c.501	CCDS41916.1	14																																																																																			OR4E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	T			22133797	1	no_errors	ENST00000408935	ensembl	human	known	70_37	silent	SNP	0.995	C	C	22133797	T	C	22133797	2	2	63	1	0	0	0	0	0	0	0	1	11084	1596	56	5		5	OR4E2	14	22133797	Silent	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08		22133797	85215743	59	9879										
SERPINA3	12	genome.wustl.edu	37	chr14	95085756	95085757	+	Missense_Mutation	DNP	AT	AT	CA													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	agatggaggaagtggaagccAtgctgctcccagagaccctg							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A|T	A|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr14:95085756_95085757AT>CA	ENST00000467132.1	+	3	2016_2017	c.868_869AT>CA	c.(868-870)ATg>CAg	p.M290Q	SERPINA3_ENST00000393080.4_Missense_Mutation_p.M290Q|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.M290Q|SERPINA3_ENST00000482740.1_Missense_Mutation_p.M72Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	290					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGTGGAAGCCATGCTGCTCCCA	0.569																																																	0																																										SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	Exception_encountered	14.37:g.95085756_95085757delinsCA	ENSP00000450540:p.Met290Gln		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M315L|p.M315K	ENST00000467132.1	37	c.943|c.944	CCDS32150.1	14																																																																																			SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.569	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	A|T	NM_001085		95085756|95085757	1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	C|A	CA	95085757	AT	CA	95085756	3	2	63	1	0	0	0	0	1	0	0	0	14120	217	8	5	874	5	SERPINA3	14	95085756	Missense_Mutation	DNP	AT	TCGA-DS-A1OA-01A-11D-A16Y-08	72951959	95085756	12263784	60	9880										
BCL11B	64919	genome.wustl.edu	37	chr14	99640539	99640539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tcgttagtcagcaagtgctcGccgtgccactttttcatgtg	10	11	2	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr14:99640539G>A	ENST00000357195.3	-	4	2643	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	BCL11B_ENST00000443726.2_Silent_p.G684G|BCL11B_ENST00000345514.2_Silent_p.G807G	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	878					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCAAGTGCTCGCCGTGCCACT	0.617			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													93	76	82					14																	99640539		2203	4300	6503	SO:0001819	synonymous_variant	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2634C>T	14.37:g.99640539G>A			Q9H162	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G878	ENST00000357195.3	37	c.2634	CCDS9950.1	14																																																																																			BCL11B	-	NULL		0.617	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	G	NM_138576		99640539	-1	no_errors	ENST00000357195	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99640539	G	A	99640539	2	1	63	1	0	0	0	0	0	0	0	1	1365	1074	38	2		2	BCL11B	14	99640539	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	4554783	99640539	7709001	61	9881										
THSD4	79875	genome.wustl.edu	37	chr15	72040915	72040915	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tgtgccaagagctggttcctCaccgagtggagcgaaagggt	15	9	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:72040915C>T	ENST00000355327.3	+	14	2531	c.2397C>T	c.(2395-2397)ctC>ctT	p.L799L	THSD4_ENST00000261862.6_Silent_p.L799L|THSD4_ENST00000357769.4_Silent_p.L439L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	799	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCTGGTTCCTCACCGAGTGGA	0.572																																																	0													101	112	108					15																	72040915		2077	4204	6281	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2397C>T	15.37:g.72040915C>T			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.L799	ENST00000355327.3	37	c.2397	CCDS10238.2	15																																																																																			THSD4	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.572	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	C	NM_024817		72040915	1	no_errors	ENST00000261862	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72040915	C	T	72040915	2	4	63	1	0	0	0	0	0	0	0	1	15908	813	29	1		1	THSD4	15	72040915	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		72040915	30490477	62	9882										
CYP1A2	1544	genome.wustl.edu	37	chr15	75043622	75043622	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	atcccacaggagaagattgtCaaccttgtcaatgacatctt	7	10	3	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:75043622C>T	ENST00000343932.4	+	3	987	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	308					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	AGAAGATTGTCAACCTTGTCA	0.572																																																	0													140	115	124					15																	75043622		2197	4296	6493	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.924C>T	15.37:g.75043622C>T			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V308	ENST00000343932.4	37	c.924	CCDS32293.1	15																																																																																			CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.572	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	C	NM_000761		75043622	1	no_errors	ENST00000343932	ensembl	human	known	70_37	silent	SNP	0.627	T	T	75043622	C	T	75043622	2	4	63	1	0	0	0	0	0	0	0	1	4155	813	29	1		1	CYP1A2	15	75043622	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	3002707	75043622	27487770	63	9883										
ZNF23	7571	genome.wustl.edu	37	chr16	71483747	71483748	+	Frame_Shift_Ins	INS	-	-	T													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gatacattctcttttccttcINSatacatttcctttgtcaaat							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:71483747_71483748insT	ENST00000393539.2	-	6	993_994	c.180_181insA	c.(178-183)tatgaafs	p.E61fs	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Frame_Shift_Ins_p.E61fs|ZNF23_ENST00000564528.1_Frame_Shift_Ins_p.E3fs|ZNF23_ENST00000428724.2_Frame_Shift_Ins_p.E3fs|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Frame_Shift_Ins_p.E61fs|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCTTTTCCTTCATACATTTCCT	0.337																																																	0																																										SO:0001589	frameshift_variant	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.180_181insA	16.37:g.71483747_71483748insT	ENSP00000377171:p.Glu61fs		Q8NDP5|Q96IT3|Q9UG42	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E60fs	ENST00000393539.2	37	c.181_180	CCDS10900.1	16																																																																																			ZNF23	-	NULL		0.337	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	NM_145911		71483748	-1	no_errors	ENST00000357254	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T	T	71483748	-	T	71483747	7	5	63	1	0	1	1	0	0	0	0	0	17813	835	29	0	1754	0	ZNF23	16	71483747	Frame_Shift_Ins	INS	-	TCGA-DS-A1OA-01A-11D-A16Y-08		71483747	18871006	64	9884										
CHST4	10164	genome.wustl.edu	37	chr16	71571633	71571633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cgacttcagaaagcctgtggCgatgccatgaatttgctggg	13	9	1	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:71571633C>T	ENST00000338482.5	+	3	1396	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Silent_p.G351G|CHST4_ENST00000539698.3_Silent_p.G351G|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	351					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AAGCCTGTGGCGATGCCATGA	0.512											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	58	59					16																	71571633		2198	4300	6498	SO:0001819	synonymous_variant	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1053C>T	16.37:g.71571633C>T		1131	Q8IV46|Q9Y5R3	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.G351	ENST00000338482.5	37	c.1053	CCDS10902.1	16																																																																																			CHST4	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.512	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	C	NM_005769		71571633	1	no_errors	ENST00000338482	ensembl	human	known	70_37	silent	SNP	0.000	T	T	71571633	C	T	71571633	2	4	63	1	0	0	0	0	0	0	0	1	3411	755	27	2		2	CHST4	16	71571633	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	87886	71571633	18783120	65	9885										
MBTPS1	8720	genome.wustl.edu	37	chr16	84103572	84103572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cagagaactctcttgcttcgCgggggagtaggaattatctt	12	8	2	1	rs144900691	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:84103572C>T	ENST00000343411.3	-	14	2349	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	618					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTGCTTCGCGGGGGAGTAG	0.423													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		18685	0		0	False		,,,				2504	0																0								C		0,4400		0,0,2200	140	148	145		1854	-9	0.2	16	dbSNP_134	145	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MBTPS1	NM_003791.2		0,9,6491	TT,TC,CC		0.1047,0.0,0.0692		618/1053	84103572	9,12991	2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1854G>A	16.37:g.84103572C>T			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.P618	ENST00000343411.3	37	c.1854	CCDS10941.1	16																																																																																			MBTPS1	-	NULL		0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84103572	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	silent	SNP	0.790	T	T	84103572	C	T	84103572	2	4	63	1	0	0	0	0	0	0	0	1	9384	755	27	2		2	MBTPS1	16	84103572	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	12531939	84103572	6251181	66	9886										
KRT15	3866	genome.wustl.edu	37	chr17	39673167	39673167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	atccaggactcggcgcaagcCgttgatgtcagcctcaacgc	11	14	2	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:39673167C>A	ENST00000254043.3	-	3	4216	c.631G>T	c.(631-633)Ggc>Tgc	p.G211C	KRT15_ENST00000393974.3_Missense_Mutation_p.G46C|KRT15_ENST00000393981.3_Missense_Mutation_p.G46C|KRT15_ENST00000393976.2_Missense_Mutation_p.G211C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	211	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGGCGCAAGCCGTTGATGTCA	0.597																																																	0													73	72	72					17																	39673167		2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.631G>T	17.37:g.39673167C>A	ENSP00000254043:p.Gly211Cys		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G211C	ENST00000254043.3	37	c.631	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897063	0.52121	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	3.86	0.44501	Filament (1);	0.000000	0.49916	D	0.000122	D	0.96377	0.8818	H	0.98256	4.185	0.48087	D	0.999589	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97134	0.9820	10	0.87932	D	0	.	13.6849	0.62511	0.0:0.9237:0.0:0.0763	.	46;211;211	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	C	211;46;211;46;46	ENSP00000254043:G211C;ENSP00000377544:G46C;ENSP00000377546:G211C;ENSP00000377550:G46C;ENSP00000409282:G46C	ENSP00000254043:G211C	G	-	1	0	KRT15	36926693	0.003000	0.15002	0.997000	0.53966	0.122000	0.20287	1.180000	0.32005	2.514000	0.84764	0.650000	0.86243	GGC	KRT15	-	pfam_F,prints_Keratin_I		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	C	NM_002275		39673167	-1	no_errors	ENST00000254043	ensembl	human	known	70_37	missense	SNP	0.991	A	A	39673167	C	A	39673167	3	1	63	1	0	0	0	0	1	0	0	0	8472	652	23	2	763	2	KRT15	17	39673167	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		39673167	41522043	67	9887										
PSME3	10197	genome.wustl.edu	37	chr17	40991365	40991365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	agaaagaatatatcagccttCggctcatcatatcagagctg	8	9	4	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:40991365C>T	ENST00000590720.1	+	10	885	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	PSME3_ENST00000293362.3_Missense_Mutation_p.R231W|PSME3_ENST00000592169.1_Missense_Mutation_p.R162W|PSME3_ENST00000545225.1_Missense_Mutation_p.R157W|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.R229W			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)	p.R231W(1)		NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TATCAGCCTTCGGCTCATCAT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											80	77	78					17																	40991365		2203	4300	6503	SO:0001583	missense	10197			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.652C>T	17.37:g.40991365C>T	ENSP00000466794:p.Arg218Trp		A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu	p.R231W	ENST00000590720.1	37	c.691	CCDS45689.1	17	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753032	0.49362	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.54279	0.58;0.58	5.78	4.81	0.61882	Proteasome activator pa28, REG beta subunit (2);	0.112547	0.64402	D	0.000013	T	0.68613	0.3020	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.69654	0.938;0.965;0.965;0.942	T	0.68689	-0.5342	10	0.38643	T	0.18	-26.7237	16.4262	0.83815	0.1325:0.8675:0.0:0.0	.	157;218;218;231	B3KQ25;Q6FHK7;P61289;P61289-2	.;.;PSME3_HUMAN;.	W	157;231;218	ENSP00000441682:R157W;ENSP00000293362:R231W	ENSP00000293362:R231W	R	+	1	2	PSME3	38244891	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	4.823000	0.62694	1.450000	0.47717	-0.277000	0.10078	CGG	PSME3	-	pfam_Proteasome_activ_REG_bsu,superfamily_Proteasome_activ_REG_asu/bsu		0.443	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	C	NM_176863		40991365	1	no_errors	ENST00000293362	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40991365	C	T	40991365	3	4	63	1	0	0	0	0	1	0	0	0	12735	875	31	1	729	1	PSME3	17	40991365	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	1318198	40991365	40203845	68	9888										
SLC4A1	6521	genome.wustl.edu	37	chr17	42335066	42335066	+	Silent	SNP	G	G	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	aacaccagcaggggtcctgaGaagccgaccacaagcagggg							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:42335066G>A	ENST00000262418.6	-	12	1547	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	AC003043.1_ENST00000597382.1_5'Flank|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	464	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGGTCCTGAGAAGCCGACCA	0.617																																																	0													54	54	54					17																	42335066		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1392C>T	17.37:g.42335066G>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.F464	ENST00000262418.6	37	c.1392	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	G	NM_000342		42335066	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42335066	G	A	42335066	2	1	63	1	0	0	0	0	0	0	0	1	14680	933	33	1		1	SLC4A1	17	42335066	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	1343701	42335066	38860144	69	9889	55	2								
SLC4A1	6521	genome.wustl.edu	37	chr17	42335069	42335069	+	Silent	SNP	G	G	A													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	accagcaggggtcctgagaaGccgaccacaagcaggggctg							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:42335069G>A	ENST00000262418.6	-	12	1544	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	AC003043.1_ENST00000597382.1_5'Flank|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	463	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCTGAGAAGCCGACCACAA	0.617																																																	0													56	56	56					17																	42335069		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1389C>T	17.37:g.42335069G>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.G463	ENST00000262418.6	37	c.1389	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	G	NM_000342		42335069	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42335069	G	A	42335069	2	1	63	1	0	0	0	0	0	0	0	1	14680	958	34	4		4	SLC4A1	17	42335069	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	3	42335069	38860141	70	9890	55	2								
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892159	62892159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tcacagagacactgggtgaaGctaaatgatgagtttgatgg	13	5	1	5	rs17857225		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:62892159G>T	ENST00000584306.1	-	3	1747	c.1217C>A	c.(1216-1218)gCt>gAt	p.A406D	LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A406D|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	406						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTGGGTGAAGCTAAATGATG	0.537																																																	0													1	1	1					17																	62892159		292	887	1179	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1217C>A	17.37:g.62892159G>T	ENSP00000464535:p.Ala406Asp		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A406D	ENST00000584306.1	37	c.1217	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	0	-2.581395	0.00129	.	.	ENSG00000176809	ENST00000319651	T	0.59772	0.24	2.63	-5.25	0.02781	.	.	.	.	.	T	0.16342	0.0393	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11108	-1.0601	9	0.11794	T	0.64	.	2.8545	0.05568	0.2063:0.2804:0.3945:0.1188	.	406	O60309	L37A3_HUMAN	D	406	ENSP00000325713:A406D	ENSP00000325713:A406D	A	-	2	0	LRRC37A3	60322621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.921000	0.01569	-5.806000	0.00009	-2.171000	0.00323	GCT	LRRC37A3	-	NULL		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62892159	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62892159	G	T	62892159	3	4	63	1	0	0	0	0	1	0	0	0	9016	971	34	4	3735	4	LRRC37A3	17	62892159	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	20557090	62892159	18303051	71	9891										
KIAA0802	23255	genome.wustl.edu	37	chr18	8821479	8821479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ttataggaagaagaaaatcaCaaaggaaatcttcaaaggta	8	4	3	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr18:8821479C>T	ENST00000306329.11	+	12	4128	c.4128C>T	c.(4126-4128)caC>caT	p.H1376H	SOGA2_ENST00000306285.7_Silent_p.H382H|SOGA2_ENST00000359865.3_Silent_p.H1057H|SOGA2_ENST00000518815.1_Silent_p.H382H|SOGA2_ENST00000517570.1_Silent_p.H1016H|SOGA2_ENST00000400050.3_Silent_p.H1016H																							AAGAAAATCACAAAGGAAATC	0.303																																																	0													32	34	34					18																	8821479		2193	4298	6491	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4128C>T	18.37:g.8821479C>T				Silent	SNP	pfam_DUF3166	p.H1057	ENST00000306329.11	37	c.3171		18																																																																																			SOGA2	-	NULL		0.303	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	C			8821479	1	no_errors	ENST00000359865	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8821479	C	T	8821479	2	4	63	1	0	0	0	0	0	0	0	1	8214	477	17	4		4	KIAA0802	18	8821479	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		8821479	69255769	72	9892										
CTAGE1	64693	genome.wustl.edu	37	chr18	19997691	19997691	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gatctaaaacttctccacaaGaagagaacagcaaaaaatcc	5	10	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr18:19997691G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.F28F			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCTCCACAAGAAGAGAACAG	0.413																																																	0													85	79	81					18																	19997691		2203	4300	6503	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997691G>A	Exception_encountered		B0YIZ3	Silent	SNP	NULL	p.F28	ENST00000525417.1	37	c.84		18																																																																																			CTAGE1	-	NULL		0.413	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	G	NM_022663, NM_172241		19997691	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	silent	SNP	0.010	A	A	19997691	G	A	19997691	1	1	63	0	1	0	0	0	0	0	0	0	3997	933	33	1		1	CTAGE1	18	19997691	5'Flank	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	11176212	19997691	58079557	73	9893										
PLIN4	729359	genome.wustl.edu	37	chr19	4510708	4510708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ggcgtggagatgccagagaaCggggcctcttgggggctcag	19	9	2	2	rs534069616|rs371845550	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:4510708C>T	ENST00000301286.3	-	3	3221	c.3222G>A	c.(3220-3222)ccG>ccA	p.P1074P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1074						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGCCAGAGAACGGGGCCTCTT	0.657													c|||	1	0.000199681	0	0.0014	5008	,	,		15824	0		0	False		,,,				2504	0																0										2,4164		0,2,2081	25	30	28		3222	0.9	0	19		28	0,8410		0,0,4205	no	coding-synonymous	PLIN4	NM_001080400.1		0,2,6286	TT,TC,CC		0.0,0.048,0.0159		1074/1358	4510708	2,12574	2083	4205	6288	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3222G>A	19.37:g.4510708C>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.P1074	ENST00000301286.3	37	c.3222	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4510708	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.000	T	T	4510708	C	T	4510708	2	4	63	1	0	0	0	0	0	0	0	1	12116	523	19	2		2	PLIN4	19	4510708	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		4510708	54618275	74	9894										
TNFAIP8L1	126282	genome.wustl.edu	37	chr19	4652044	4652044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	agttcacgcgcagccgcaagGaggcccagaagatgctcaag	13	12	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:4652044G>A	ENST00000536716.1	+	2	309	c.163G>A	c.(163-165)Gag>Aag	p.E55K	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.E55K	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	55					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGCAAGGAGGCCCAGAA	0.662																																																	0													57	56	57					19																	4652044		2203	4299	6502	SO:0001583	missense	126282			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.163G>A	19.37:g.4652044G>A	ENSP00000444215:p.Glu55Lys		D6W627	Missense_Mutation	SNP	pfam_DUF758	p.E55K	ENST00000536716.1	37	c.163	CCDS12132.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481969	0.84747	.	.	ENSG00000185361	ENST00000327473;ENST00000536716	T;T	0.35236	1.32;1.32	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.58581	0.2132	M	0.70903	2.155	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.58885	-0.7557	10	0.35671	T	0.21	0.4136	16.0503	0.80755	0.0:0.0:1.0:0.0	.	55	Q8WVP5	TP8L1_HUMAN	K	55	ENSP00000331827:E55K;ENSP00000444215:E55K	ENSP00000331827:E55K	E	+	1	0	TNFAIP8L1	4603044	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.450000	0.97607	2.025000	0.59659	0.462000	0.41574	GAG	TNFAIP8L1	-	pfam_DUF758		0.662	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	HGNC	protein_coding	OTTHUMT00000458662.1	G	NM_152362		4652044	1	no_errors	ENST00000327473	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4652044	G	A	4652044	3	1	63	1	0	0	0	0	1	0	0	0	16307	1175	41	1	165	1	TNFAIP8L1	19	4652044	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	141336	4652044	54476939	75	9895										
ZNF14	7561	genome.wustl.edu	37	chr19	19823160	19823160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	aagaaggcttttccacattcTttacattcatagggtttctc	6	9	3	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:19823160T>C	ENST00000344099.3	-	4	1068	c.930A>G	c.(928-930)aaA>aaG	p.K310K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCCACATTCTTTACATTCAT	0.383																																																	0													44	44	44					19																	19823160		2203	4300	6503	SO:0001819	synonymous_variant	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.930A>G	19.37:g.19823160T>C			B9EGA4|Q9ULZ5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K310	ENST00000344099.3	37	c.930	CCDS12409.1	19																																																																																			ZNF14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	T	NM_021030		19823160	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	silent	SNP	0.001	C	C	19823160	T	C	19823160	2	2	63	1	0	0	0	0	0	0	0	1	17758	1606	56	5		5	ZNF14	19	19823160	Silent	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	15171116	19823160	39305823	76	9896										
ZNF90	7643	genome.wustl.edu	37	chr19	20229473	20229473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	actggagagaaaccctacaaGtgtgataaatgtggcaaagc	11	7	0	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:20229473G>A	ENST00000418063.2	+	4	1222	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	370					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AACCCTACAAGTGTGATAAAT	0.388																																																	0													39	37	37					19																	20229473		692	1591	2283	SO:0001819	synonymous_variant	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1110G>A	19.37:g.20229473G>A			B9EH87	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K370	ENST00000418063.2	37	c.1110	CCDS46028.1	19																																																																																			ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	G	NM_007138		20229473	1	no_errors	ENST00000418063	ensembl	human	known	70_37	silent	SNP	0.003	A	A	20229473	G	A	20229473	2	1	63	1	0	0	0	0	0	0	0	1	18229	1020	36	4		4	ZNF90	19	20229473	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	406313	20229473	38899510	77	9897										
ZNF486	90649	genome.wustl.edu	37	chr19	20308380	20308380	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cttactacacataagataatCcatactggagagcaacccta	5	11	0	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:20308380C>T	ENST00000335117.8	+	4	918	c.861C>T	c.(859-861)atC>atT	p.I287I	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATAAGATAATCCATACTGGAG	0.368																																																	0													48	52	51					19																	20308380		2158	4273	6431	SO:0001819	synonymous_variant	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.861C>T	19.37:g.20308380C>T			Q0VG00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I287	ENST00000335117.8	37	c.861	CCDS46029.1	19																																																																																			ZNF486	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	C	NM_052852		20308380	1	no_errors	ENST00000335117	ensembl	human	known	70_37	silent	SNP	0.086	T	T	20308380	C	T	20308380	2	4	63	1	0	0	0	0	0	0	0	1	17969	845	30	1		1	ZNF486	19	20308380	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	78907	20308380	38820603	78	9898										
ZNF737	100129842	genome.wustl.edu	37	chr19	20728085	20728085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	catttgtagggtttctctccGctatgaattatcttatgcgc	8	9	2	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:20728085G>A	ENST00000427401.4	-	4	1018	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTTTCTCTCCGCTATGAATTA	0.408																																																	0													42	42	42					19																	20728085		692	1591	2283	SO:0001819	synonymous_variant	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.924C>T	19.37:g.20728085G>A			C9JHM3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S308	ENST00000427401.4	37	c.924	CCDS54238.1	19																																																																																			ZNF737	-	pfscan_Znf_C2H2		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	G	NM_145289		20728085	-1	no_errors	ENST00000427401	ensembl	human	known	70_37	silent	SNP	0.997	A	A	20728085	G	A	20728085	2	1	63	1	0	0	0	0	0	0	0	1	18156	1078	38	2		2	ZNF737	19	20728085	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	419705	20728085	38400898	79	9899										
ZNF431	170959	genome.wustl.edu	37	chr19	21365885	21365885	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tcatactggagagaaaccctTcaaatgtgaagaatgtggca	10	7	2	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21365885T>A	ENST00000311048.7	+	5	923	c.779T>A	c.(778-780)tTc>tAc	p.F260Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	260					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GAGAAACCCTTCAAATGTGAA	0.368																																																	0													42	46	45					19																	21365885		2196	4290	6486	SO:0001583	missense	170959			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.779T>A	19.37:g.21365885T>A	ENSP00000308578:p.Phe260Tyr		A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F260Y	ENST00000311048.7	37	c.779	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.720845	0.00700	.	.	ENSG00000196705	ENST00000311048	T	0.17054	2.3	1.0	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	N	0.12443	0.215	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.40776	-0.9545	9	0.02654	T	1	.	4.8123	0.13349	0.4738:0.0:0.0:0.5262	.	260	Q8TF32	ZN431_HUMAN	Y	260	ENSP00000308578:F260Y	ENSP00000308578:F260Y	F	+	2	0	ZNF431	21157725	0.000000	0.05858	0.959000	0.39883	0.954000	0.61252	-0.713000	0.05007	-0.667000	0.05303	-0.735000	0.03563	TTC	ZNF431	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	T	XM_086098		21365885	1	no_errors	ENST00000311048	ensembl	human	known	70_37	missense	SNP	0.172	A	A	21365885	T	A	21365885	3	1	63	1	0	0	0	0	1	0	0	0	17935	1783	62	5	797	5	ZNF431	19	21365885	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	637800	21365885	37763098	80	9900										
ZNF708	7562	genome.wustl.edu	37	chr19	21476519	21476519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ttcacatttgtagggtttctTtccagtatgaattaccttat	6	7	2	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21476519T>C	ENST00000356929.3	-	4	1446	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGGGTTTCTTTCCAGTATGA	0.343																																																	0													51	55	53					19																	21476519		2200	4298	6498	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1249A>G	19.37:g.21476519T>C	ENSP00000349401:p.Lys417Glu		Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K417E	ENST00000356929.3	37	c.1249	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.010251	0.00426	.	.	ENSG00000182141	ENST00000356929	T	0.12672	2.66	1.05	-2.1	0.07210	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.01417	-0.88	0.23056	N	0.998366	B	0.02656	0.0	B	0.01281	0.0	T	0.38542	-0.9656	9	0.02654	T	1	.	7.3011	0.26422	0.0:0.6317:0.0:0.3683	.	417	P17019	ZN708_HUMAN	E	417	ENSP00000349401:K417E	ENSP00000349401:K417E	K	-	1	0	ZNF708	21268359	0.000000	0.05858	0.077000	0.20336	0.069000	0.16628	-0.024000	0.12435	-1.351000	0.02197	-1.371000	0.01190	AAG	ZNF708	-	pfscan_Znf_C2H2		0.343	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	T	NM_021269		21476519	-1	no_errors	ENST00000356929	ensembl	human	known	70_37	missense	SNP	0.995	C	C	21476519	T	C	21476519	3	2	63	1	0	0	0	0	1	0	0	0	18142	1850	64	5	446	5	ZNF708	19	21476519	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	110634	21476519	37652464	81	9901										
ZNF429	353088	genome.wustl.edu	37	chr19	21720463	21720463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	attcatactggagagaaaccTtacaaatgtgaagaatgtgg	10	5	1	3	rs112131328	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21720463T>C	ENST00000358491.4	+	4	1816	c.1608T>C	c.(1606-1608)ccT>ccC	p.P536P	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAGAGAAACCTTACAAATGTG	0.363																																																	0													40	45	43					19																	21720463		2132	4267	6399	SO:0001819	synonymous_variant	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1608T>C	19.37:g.21720463T>C			A6NLV7|Q9BZE6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P536	ENST00000358491.4	37	c.1608	CCDS42537.1	19																																																																																			ZNF429	-	pfscan_Znf_C2H2		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	T	NM_001001415		21720463	1	no_errors	ENST00000358491	ensembl	human	novel	70_37	silent	SNP	0.053	C	C	21720463	T	C	21720463	2	2	63	1	0	0	0	0	0	0	0	1	17932	1596	56	5		5	ZNF429	19	21720463	Silent	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	243944	21720463	37408520	82	9902										
ZNF43	7594	genome.wustl.edu	37	chr19	21991061	21991062	+	Missense_Mutation	DNP	AA	AA	GG													0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cacattcttcacatttgtagAatttctctccagtatgaatt							TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21991061_21991062AA>GG	ENST00000354959.4	-	4	1946_1947	c.1777_1778TT>CC	c.(1777-1779)TTc>CCc	p.F593P	ZNF43_ENST00000598381.1_Missense_Mutation_p.F587P|ZNF43_ENST00000594012.1_Missense_Mutation_p.F587P|ZNF43_ENST00000595461.1_Missense_Mutation_p.F587P	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACATTTGTAGAATTTCTCTCCA	0.356																																																	0																																										SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1777_1778delinsGG	19.37:g.21991061_21991062delinsGG	ENSP00000347045:p.Phe593Pro		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F593S|p.F593L	ENST00000354959.4	37	c.1778|c.1777	CCDS12413.2	19																																																																																			ZNF43	-	pfscan_Znf_C2H2		0.356	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	A	NM_003423		21991061|21991062	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	missense	SNP	0.994|0.999	G	GG	21991062	AA	GG	21991061	3	3	63	1	0	0	0	0	1	0	0	0	17933	246	9	5	655	5	ZNF43	19	21991061	Missense_Mutation	DNP	AA	TCGA-DS-A1OA-01A-11D-A16Y-08	270598	21991061	37137922	83	9903										
ZNF208	7757	genome.wustl.edu	37	chr19	22155563	22155563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	taagggttgaggaccacttaTaggctttgccacattcttca	9	9	2	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22155563T>A	ENST00000397126.4	-	4	2421	c.2273A>T	c.(2272-2274)tAt>tTt	p.Y758F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACCACTTATAGGCTTTGCC	0.373																																																	0													30	32	32					19																	22155563		1959	4163	6122	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2273A>T	19.37:g.22155563T>A	ENSP00000380315:p.Tyr758Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y758F	ENST00000397126.4	37	c.2273	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.370494	0.00209	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.03496	3.91	2.13	-0.478	0.12093	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.22880	0.042	T	0.47433	-0.9118	8	0.02654	T	1	.	6.3956	0.21611	0.6138:0.0:0.0:0.3862	.	658	O43345	ZN208_HUMAN	F	758;658	ENSP00000380315:Y758F	ENSP00000380315:Y758F	Y	-	2	0	ZNF208	21947403	0.005000	0.15991	0.000000	0.03702	0.008000	0.06430	-2.586000	0.00902	-2.234000	0.00715	-2.288000	0.00268	TAT	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	T	NM_007153		22155563	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	0.003	A	A	22155563	T	A	22155563	3	1	63	1	0	0	0	0	1	0	0	0	17796	1406	49	5	1573	5	ZNF208	19	22155563	Missense_Mutation	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	164502	22155563	36973420	84	9904										
ZNF99	7652	genome.wustl.edu	37	chr19	22939435	22939435	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tcacatttgtacggtttctcCccagtatgaattatcttatg	6	9	3	1	rs565027646	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22939435C>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.G912G|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGGTTTCTCCCCAGTATGAA	0.358													C|||	72	0.014377	0.0499	0	5008	,	,		16953	0.004		0	False		,,,				2504	0.002																0													34	48	43					19																	22939435		1948	4231	6179	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939435C>T			M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G912	ENST00000596209.1	37	c.2736	CCDS59369.1	19																																																																																			ZNF99	-	pfscan_Znf_C2H2		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22939435	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	silent	SNP	0.995	T	T	22939435	C	T	22939435	1	4	63	0	1	0	0	0	0	0	0	0	18234	610	22	4		4	ZNF99	19	22939435	IGR	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	783872	22939435	36189548	85	9905										
ZNF675	171392	genome.wustl.edu	37	chr19	23836182	23836182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	cagtaagttttgaggatcggCtaaaagctttgccacattct	9	8	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23836182C>T	ENST00000359788.4	-	4	1721	c.1553G>A	c.(1552-1554)aGc>aAc	p.S518N	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	518					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGAGGATCGGCTAAAAGCTTT	0.373																																																	0													56	59	58					19																	23836182		2201	4298	6499	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1553G>A	19.37:g.23836182C>T	ENSP00000352836:p.Ser518Asn		Q8N211	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S518N	ENST00000359788.4	37	c.1553	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.115748	0.00032	.	.	ENSG00000197372	ENST00000359788	T	0.07567	3.18	0.886	-1.77	0.07982	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	L	0.28014	0.82	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46386	-0.9195	9	0.02654	T	1	.	4.8204	0.13387	0.0:0.5896:0.2183:0.1921	.	518	Q8TD23	ZN675_HUMAN	N	518	ENSP00000352836:S518N	ENSP00000352836:S518N	S	-	2	0	ZNF675	23628022	0.000000	0.05858	0.751000	0.31187	0.753000	0.42808	-7.641000	0.00032	-0.697000	0.05092	-0.683000	0.03753	AGC	ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	C	NM_138330		23836182	-1	no_errors	ENST00000359788	ensembl	human	known	70_37	missense	SNP	0.007	T	T	23836182	C	T	23836182	3	4	63	1	0	0	0	0	1	0	0	0	18112	797	28	4	157	4	ZNF675	19	23836182	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	896747	23836182	35292801	86	9906										
ZNF681	148213	genome.wustl.edu	37	chr19	23926945	23926945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ttctctccagtatgaattctTttatgtgtagtaaggtttga	8	5	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23926945T>C	ENST00000402377.3	-	4	1548	c.1407A>G	c.(1405-1407)aaA>aaG	p.K469K	ZNF681_ENST00000395385.3_Silent_p.K400K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTCTTTTATGTGTAG	0.358																																																	0													49	53	52					19																	23926945		2203	4298	6501	SO:0001819	synonymous_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1407A>G	19.37:g.23926945T>C			B3KVF7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K469	ENST00000402377.3	37	c.1407	CCDS12414.2	19																																																																																			ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	T	NM_138286		23926945	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	silent	SNP	0.990	C	C	23926945	T	C	23926945	2	2	63	1	0	0	0	0	0	0	0	1	18118	1838	64	5		5	ZNF681	19	23926945	Silent	SNP	T	TCGA-DS-A1OA-01A-11D-A16Y-08	90763	23926945	35202038	87	9907										
ZNF681	148213	genome.wustl.edu	37	chr19	23927026	23927026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ggtttctcttcagtatgaatAttcttatgttcagtaaggtt	8	5	4	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23927026A>T	ENST00000402377.3	-	4	1467	c.1326T>A	c.(1324-1326)aaT>aaA	p.N442K	ZNF681_ENST00000395385.3_Missense_Mutation_p.N373K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CAGTATGAATATTCTTATGTT	0.358																																																	0													55	58	57					19																	23927026		2203	4300	6503	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1326T>A	19.37:g.23927026A>T	ENSP00000384000:p.Asn442Lys		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N442K	ENST00000402377.3	37	c.1326	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	1.504	-0.551237	0.03996	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.12569	2.67;2.67	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.01405	-0.89	0.20703	N	0.999863	B	0.17465	0.022	B	0.08055	0.003	T	0.36696	-0.9737	9	0.29301	T	0.29	.	2.3147	0.04196	0.3747:0.1847:0.0:0.4405	.	442	Q96N22	ZN681_HUMAN	K	442;373	ENSP00000384000:N442K;ENSP00000378783:N373K	ENSP00000378783:N373K	N	-	3	2	ZNF681	23718866	0.000000	0.05858	0.016000	0.15963	0.144000	0.21451	-1.279000	0.02807	-1.284000	0.02390	-0.991000	0.02546	AAT	ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	A	NM_138286		23927026	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	missense	SNP	0.897	T	T	23927026	A	T	23927026	3	4	63	1	0	0	0	0	1	0	0	0	18118	446	16	5	615	5	ZNF681	19	23927026	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08	81	23927026	35201957	88	9908										
ZNF254	9534	genome.wustl.edu	37	chr19	24309583	24309583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ctacacatgaaataattcatGctggagagaaactctacaaa	6	8	2	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:24309583G>A	ENST00000357002.4	+	4	896	c.781G>A	c.(781-783)Gct>Act	p.A261T	ZNF254_ENST00000342944.6_Missense_Mutation_p.A176T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	261					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATAATTCATGCTGGAGAGAA	0.328																																																	0													34	35	35					19																	24309583		2203	4298	6501	SO:0001583	missense	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.781G>A	19.37:g.24309583G>A	ENSP00000349494:p.Ala261Thr		A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A261T	ENST00000357002.4	37	c.781	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	G	0.213	-1.035291	0.02029	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.11712	2.75;2.75	1.11	-0.0651	0.13770	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01489	0.0048	N	0.00113	-2.09	0.23168	N	0.998189	B	0.06786	0.001	B	0.04013	0.001	T	0.47471	-0.9115	9	0.02654	T	1	.	3.3206	0.07049	0.5605:0.0:0.4395:0.0	.	261	O75437	ZN254_HUMAN	T	176;261;261	ENSP00000445527:A176T;ENSP00000349494:A261T	ENSP00000445527:A176T	A	+	1	0	ZNF254	24101423	0.871000	0.30034	0.035000	0.18076	0.256000	0.26092	1.424000	0.34848	0.530000	0.28619	0.305000	0.20034	GCT	ZNF254	-	pfscan_Znf_C2H2		0.328	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	G	NM_004876		24309583	1	no_errors	ENST00000357002	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24309583	G	A	24309583	3	1	63	1	0	0	0	0	1	0	0	0	17828	1319	46	4	795	4	ZNF254	19	24309583	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	382557	24309583	34819400	89	9909										
BCL3	602	genome.wustl.edu	37	chr19	45262839	45262839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ctccgaggccctggccggccGgtgcccccctccccagctcc	11	23	0	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:45262839G>A	ENST00000164227.5	+	9	1576	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	444	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTGGCCGGCCGGTGCCCCCCT	0.682			T	IGH@	CLL																																			Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0													32	41	38					19																	45262839		2200	4292	6492	SO:0001819	synonymous_variant	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1332G>A	19.37:g.45262839G>A				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P444	ENST00000164227.5	37	c.1332	CCDS12642.2	19																																																																																			BCL3	-	NULL		0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	HGNC	protein_coding	OTTHUMT00000322976.1	G	NM_005178		45262839	1	no_errors	ENST00000164227	ensembl	human	known	70_37	silent	SNP	0.173	A	A	45262839	G	A	45262839	2	1	63	1	0	0	0	0	0	0	0	1	1376	1103	39	2		2	BCL3	19	45262839	Silent	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	20953256	45262839	13866144	90	9910										
ZNF613	79898	genome.wustl.edu	37	chr19	52443521	52443521	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	tgggaggagtggcagctcctCggccctgctcagaaggacct	15	12	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:52443521C>T	ENST00000293471.6	+	4	754	c.75C>T	c.(73-75)ctC>ctT	p.L25L	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGCAGCTCCTCGGCCCTGCTC	0.522																																																	0													125	119	121					19																	52443521		2203	4300	6503	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.75C>T	19.37:g.52443521C>T			Q96SS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L25	ENST00000293471.6	37	c.75	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	C	NM_024840		52443521	1	no_errors	ENST00000293471	ensembl	human	known	70_37	silent	SNP	0.685	T	T	52443521	C	T	52443521	2	4	63	1	0	0	0	0	0	0	0	1	18068	871	31	1		1	ZNF613	19	52443521	Silent	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	7180682	52443521	6685462	91	9911										
ZNF761	388561	genome.wustl.edu	37	chr19	53958477	53958477	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	acatcagataatccatttagCagacaaatataaatgtgatg	6	6	1	3			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:53958477C>G	ENST00000454407.1	+	0	1169							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCCATTTAGCAGACAAATAT	0.383																																																	0													112	111	111					19																	53958477		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958477C>G			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.383	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		C	NM_001008401		53958477	1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.627	G	G	53958477	C	G	53958477	1	3	63	0	1	0	0	0	0	0	0	0	18166	710	25	4		4	ZNF761	19	53958477	RNA	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	1514956	53958477	5170506	92	9912										
ZNF761	388561	genome.wustl.edu	37	chr19	53959137	53959137	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ccttacatgccatcgtagacGtcatactggagagcaacctt	8	12	1	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:53959137G>T	ENST00000454407.1	+	0	1829							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CATCGTAGACGTCATACTGGA	0.393																																																	0													101	105	104					19																	53959137		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959137G>T			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.393	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53959137	1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.001	T	T	53959137	G	T	53959137	1	4	63	0	1	0	0	0	0	0	0	0	18166	1145	40	2		2	ZNF761	19	53959137	RNA	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	660	53959137	5169846	93	9913										
ZNF217	7764	genome.wustl.edu	37	chr20	52198399	52198399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	ggaactcgaatcgtcgttgtCggtgctcccttcttgccccg	11	14	1	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr20:52198399C>T	ENST00000371471.2	-	2	1392	c.967G>A	c.(967-969)Gac>Aac	p.D323N	ZNF217_ENST00000302342.3_Missense_Mutation_p.D323N|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	323			D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D323N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCGTCGTTGTCGGTGCTCCCT	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											139	132	134					20																	52198399		2203	4300	6503	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.967G>A	20.37:g.52198399C>T	ENSP00000360526:p.Asp323Asn		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D323N	ENST00000371471.2	37	c.967	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411223	0.42817	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	.	0.054494	0.64402	D	0.000001	T	0.33731	0.0873	M	0.76002	2.32	0.47341	D	0.99939	D	0.89917	1.0	D	0.91635	0.999	T	0.01042	-1.1471	10	0.27785	T	0.31	-52.1519	17.6057	0.88036	0.0:1.0:0.0:0.0	.	323	O75362	ZN217_HUMAN	N	323	ENSP00000360526:D323N;ENSP00000304308:D323N	ENSP00000304308:D323N	D	-	1	0	ZNF217	51631806	1.000000	0.71417	0.963000	0.40424	0.310000	0.27922	5.639000	0.67868	2.686000	0.91538	0.591000	0.81541	GAC	ZNF217	-	NULL		0.532	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	C	NM_006526		52198399	-1	no_errors	ENST00000302342	ensembl	human	known	70_37	missense	SNP	0.996	T	T	52198399	C	T	52198399	3	4	63	1	0	0	0	0	1	0	0	0	17802	884	31	1	2195	1	ZNF217	20	52198399	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		52198399	10827121	94	9914										
KRTAP15-1	254950	genome.wustl.edu	37	chr21	31812743	31812743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	taatttgttctaccccagcaAtgccatctattctccaaata	3	12	3	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr21:31812743A>C	ENST00000334067.3	+	1	147	c.98A>C	c.(97-99)aAt>aCt	p.N33T		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	33						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TACCCCAGCAATGCCATCTAT	0.483																																																	0													89	89	89					21																	31812743		2203	4300	6503	SO:0001583	missense	254950			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.98A>C	21.37:g.31812743A>C	ENSP00000334866:p.Asn33Thr		Q2M3F4	Missense_Mutation	SNP	pfam_PMG	p.N33T	ENST00000334067.3	37	c.98	CCDS13593.1	21	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279278	0.23307	.	.	ENSG00000186970	ENST00000334067	T	0.02656	4.21	4.68	4.68	0.58851	.	0.235442	0.28706	N	0.014417	T	0.09069	0.0224	L	0.45581	1.43	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.07986	-1.0744	10	0.46703	T	0.11	-3.4127	10.8245	0.46625	1.0:0.0:0.0:0.0	.	33	Q3LI76	KR151_HUMAN	T	33	ENSP00000334866:N33T	ENSP00000334866:N33T	N	+	2	0	KRTAP15-1	30734614	0.451000	0.25705	0.262000	0.24481	0.035000	0.12851	3.572000	0.53849	2.326000	0.78906	0.533000	0.62120	AAT	KRTAP15-1	-	pfam_PMG		0.483	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP15-1	HGNC	protein_coding	OTTHUMT00000128236.1	A			31812743	1	no_errors	ENST00000334067	ensembl	human	known	70_37	missense	SNP	0.328	C	C	31812743	A	C	31812743	3	2	63	1	0	0	0	0	1	0	0	0	8546	101	4	5	100	5	KRTAP15-1	21	31812743	Missense_Mutation	SNP	A	TCGA-DS-A1OA-01A-11D-A16Y-08		31812743	16317152	95	9915										
KRTAP12-2	353323	genome.wustl.edu	37	chr21	46086689	46086689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	acacacggaggactggcagcCcacaggcacacagcaggatg	13	13	0	0			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr21:46086689C>T	ENST00000360770.3	-	1	155	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	39	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGCCCACAGGCACA	0.667																																																	0													51	58	56					21																	46086689		2174	4272	6446	SO:0001583	missense	353323			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.115G>A	21.37:g.46086689C>T	ENSP00000354001:p.Gly39Ser		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	pfam_PMG	p.G39S	ENST00000360770.3	37	c.115	CCDS42965.1	21	.	.	.	.	.	.	.	.	.	.	c	8.611	0.889235	0.17540	.	.	ENSG00000221864	ENST00000360770	T	0.02606	4.23	3.4	-6.8	0.01709	.	.	.	.	.	T	0.00784	0.0026	N	0.00677	-1.265	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47995	-0.9073	9	0.36615	T	0.2	.	2.0793	0.03631	0.2649:0.2728:0.3455:0.1168	.	39	P59991	KR122_HUMAN	S	39	ENSP00000354001:G39S	ENSP00000354001:G39S	G	-	1	0	KRTAP12-2	44911117	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-3.173000	0.00572	-2.567000	0.00470	-0.379000	0.06801	GGC	KRTAP12-2	-	pfam_PMG		0.667	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	HGNC	protein_coding	OTTHUMT00000128039.1	C	NM_181684		46086689	-1	no_errors	ENST00000360770	ensembl	human	known	70_37	missense	SNP	0.000	T	T	46086689	C	T	46086689	3	4	63	1	0	0	0	0	1	0	0	0	8539	623	22	4	329	4	KRTAP12-2	21	46086689	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08	14273946	46086689	2043206	96	9916										
ZBED4	9889	genome.wustl.edu	37	chr22	50278464	50278464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gccggtcagagagtccccttCggcctcctcctcccctgaca	9	19	1	2			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr22:50278464C>T	ENST00000216268.5	+	2	1631	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	385						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCCCTTCGGCCTCCTCC	0.612																																																	0													51	56	54					22																	50278464		2203	4299	6502	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1154C>T	22.37:g.50278464C>T	ENSP00000216268:p.Ser385Leu		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S385L	ENST00000216268.5	37	c.1154	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135570	0.37728	.	.	ENSG00000100426	ENST00000216268	T	0.41065	1.01	5.18	5.18	0.71444	.	0.385307	0.27327	N	0.019870	T	0.42177	0.1191	L	0.54323	1.7	0.21445	N	0.999686	B	0.26809	0.16	B	0.17722	0.019	T	0.40590	-0.9555	10	0.59425	D	0.04	-14.1376	18.8805	0.92354	0.0:1.0:0.0:0.0	.	385	O75132	ZBED4_HUMAN	L	385	ENSP00000216268:S385L	ENSP00000216268:S385L	S	+	2	0	ZBED4	48664468	0.176000	0.23096	0.081000	0.20488	0.039000	0.13416	1.874000	0.39568	2.707000	0.92482	0.655000	0.94253	TCG	ZBED4	-	NULL		0.612	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	C	NM_014838		50278464	1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	0.170	T	T	50278464	C	T	50278464	3	4	63	1	0	0	0	0	1	0	0	0	17550	893	31	1	1156	1	ZBED4	22	50278464	Missense_Mutation	SNP	C	TCGA-DS-A1OA-01A-11D-A16Y-08		50278464	1026102	97	9917										
PCDH19	57526	genome.wustl.edu	37	chrX	99663130	99663130	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	gccaaagcttcctgagtctgGatcgtaagcgctgtccagcg	12	12	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chrX:99663130G>C	ENST00000373034.4	-	1	2141	c.466C>G	c.(466-468)Cca>Gca	p.P156A	PCDH19_ENST00000420881.2_Missense_Mutation_p.P156A|PCDH19_ENST00000255531.7_Missense_Mutation_p.P156A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTGAGTCTGGATCGTAAGCG	0.637																																																	0													69	68	68					X																	99663130		2109	4216	6325	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.466C>G	X.37:g.99663130G>C	ENSP00000362125:p.Pro156Ala		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P156A	ENST00000373034.4	37	c.466	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738086	0.69304	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	L	0.31804	0.96	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.991	D;D;D	0.87578	0.998;0.925;0.955	T	0.57539	-0.7794	10	0.39692	T	0.17	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	156;156;156	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	156	ENSP00000400327:P156A;ENSP00000362125:P156A;ENSP00000255531:P156A	ENSP00000255531:P156A	P	-	1	0	PCDH19	99549786	1.000000	0.71417	0.733000	0.30861	0.932000	0.56968	9.807000	0.99171	2.385000	0.81259	0.544000	0.68410	CCA	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99663130	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99663130	G	C	99663130	3	2	63	1	0	0	0	0	1	0	0	0	11538	1174	41	1	3004	1	PCDH19	23	99663130	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08		99663130	55607430	98	9918										
COL4A5	1287	genome.wustl.edu	37	chrX	107814650	107814650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.138297872340426	13	0.0749477653843741	1.5986328125	2.84201388888889	1.33839026162791	0.115238543930158	0.298083700299342	0	taactccttctagggagaacGtggatttccaggcagtcccg	11	11	1	1			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chrX:107814650G>A	ENST00000361603.2	+	7	636	c.392G>A	c.(391-393)cGt>cAt	p.R131H	COL4A5_ENST00000328300.6_Missense_Mutation_p.R131H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	131	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAGGGAGAACGTGGATTTCCA	0.363									Alport syndrome with Diffuse Leiomyomatosis																																								0													142	146	145					X																	107814650		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.392G>A	X.37:g.107814650G>A	ENSP00000354505:p.Arg131His		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R131H	ENST00000361603.2	37	c.392	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179739	0.57800	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96104	-3.91;-3.91	6.13	5.28	0.74379	.	0.288465	0.29940	N	0.010820	D	0.94614	0.8264	M	0.77103	2.36	0.49130	D	0.999759	B;B	0.24043	0.096;0.096	B;B	0.19148	0.024;0.024	D	0.92223	0.5786	10	0.41790	T	0.15	.	14.722	0.69314	0.0705:0.0:0.9295:0.0	.	131;131	E7EVY4;P29400	.;CO4A5_HUMAN	H	131	ENSP00000331902:R131H;ENSP00000354505:R131H	ENSP00000331902:R131H	R	+	2	0	COL4A5	107701306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.191000	0.42640	1.361000	0.45981	0.597000	0.82753	CGT	COL4A5	-	pfam_Collagen		0.363	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107814650	1	no_errors	ENST00000328300	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107814650	G	A	107814650	3	1	63	1	0	0	0	0	1	0	0	0	3699	1145	40	2	418	2	COL4A5	23	107814650	Missense_Mutation	SNP	G	TCGA-DS-A1OA-01A-11D-A16Y-08	8151520	107814650	47455910	99	9919										
TXNIP	10628	genome.wustl.edu	37	chr1	145440399	145440402	+	Frame_Shift_Del	DEL	ATCA	ATCA	-													0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	gtgctgactcagaagttgtcAtcagtcagaggcaatcatat							TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	ATCA	ATCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:145440399_145440402delATCA	ENST00000369317.4	+	5	1039_1042	c.705_708delATCA	c.(703-708)tcatcafs	p.SS235fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	235					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAGTTGTCATCAGTCAGAGGCA	0.525																																																	0																																										SO:0001589	frameshift_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.705_708delATCA	1.37:g.145440399_145440402delATCA	ENSP00000358323:p.Ser235fs		B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.V237fs	ENST00000369317.4	37	c.705_708	CCDS913.1	1																																																																																			TXNIP	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.525	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	ATCA	NM_006472		145440402	1	no_errors	ENST00000369317	ensembl	human	known	70_37	frame_shift_del	DEL	0.699:0.919:0.919:0.052	-	-	145440402	ATCA	-	145440399	7	5	64	1	0	1	0	1	0	0	0	0	16834	204	8	0	723	0	TXNIP	1	145440399	Frame_Shift_Del	DEL	ATCA	TCGA-DS-A3LQ-01A-21D-A21Q-09		145440399	103810222	1	9920										
SLAMF6	114836	genome.wustl.edu	37	chr1	160466129	160466129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ggggaagagttactgactccCccagaatcccgttcaccatc	9	14	1	3			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:160466129C>T	ENST00000368057.3	-	2	164	c.104G>A	c.(103-105)gGg>gAg	p.G35E	SLAMF6_ENST00000368059.3_Missense_Mutation_p.G35E|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	35	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TACTGACTCCCCCAGAATCCC	0.443																																																	0													184	183	183					1																	160466129		2203	4300	6503	SO:0001583	missense	114836			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.104G>A	1.37:g.160466129C>T	ENSP00000357036:p.Gly35Glu		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G35E	ENST00000368057.3	37	c.104	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700808	0.48307	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.81078	-1.45;-1.45	4.95	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.360182	0.31601	N	0.007366	D	0.83741	0.5320	M	0.87038	2.855	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.75883	-0.3160	10	0.66056	D	0.02	-8.35	6.0837	0.19954	0.1846:0.7202:0.0:0.0953	.	35;35	Q96DU3;B2R8X8	SLAF6_HUMAN;.	E	35	ENSP00000357038:G35E;ENSP00000357036:G35E	ENSP00000357036:G35E	G	-	2	0	SLAMF6	158732753	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	0.918000	0.28678	0.653000	0.30826	0.655000	0.94253	GGG	SLAMF6	-	pfam_Ig_V-set,smart_Ig_sub		0.443	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	HGNC	protein_coding	OTTHUMT00000059010.1	C	NM_052931		160466129	-1	no_errors	ENST00000368057	ensembl	human	known	70_37	missense	SNP	0.003	T	T	160466129	C	T	160466129	3	4	64	1	0	0	0	0	1	0	0	0	14398	623	22	4	922	4	SLAMF6	1	160466129	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	15025730	160466129	88784492	2	9921										
ZNF648	127665	genome.wustl.edu	37	chr1	182025942	182025942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	caccatgcggctggccacagCgaactcccggtcgcaggcgg	14	16	0	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:182025942C>T	ENST00000339948.3	-	2	1411	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGGCCACAGCGAACTCCCGG	0.701																																					NSCLC(71;908 1374 5429 20458 35642)												0													13	15	14					1																	182025942		2154	4183	6337	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1204G>A	1.37:g.182025942C>T	ENSP00000344129:p.Ala402Thr		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A402T	ENST00000339948.3	37	c.1204	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993399	0.19043	.	.	ENSG00000179930	ENST00000339948	T	0.17691	2.26	2.81	0.323	0.15893	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	L	0.33339	1.005	0.23386	N	0.99779	B	0.19200	0.034	B	0.15052	0.012	T	0.37888	-0.9686	9	0.23302	T	0.38	.	0.5708	0.00695	0.2374:0.3552:0.2128:0.1946	.	402	Q5T619	ZN648_HUMAN	T	402	ENSP00000344129:A402T	ENSP00000344129:A402T	A	-	1	0	ZNF648	180292565	0.002000	0.14202	0.716000	0.30569	0.973000	0.67179	-0.054000	0.11826	0.067000	0.16545	0.561000	0.74099	GCT	ZNF648	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.701	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	C	XM_060597		182025942	-1	no_errors	ENST00000339948	ensembl	human	known	70_37	missense	SNP	0.336	T	T	182025942	C	T	182025942	3	4	64	1	0	0	0	0	1	0	0	0	18093	768	27	2	506	2	ZNF648	1	182025942	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	21559813	182025942	67224679	3	9922										
FAM5C	339479	genome.wustl.edu	37	chr1	190233994	190233994	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ttagcgtaaactcattcttaCctttatggcagtggatgcaa	8	8	2	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:190233994C>T	ENST00000367462.3	-	4	850		c.e4+1		BRINP3_ENST00000534846.1_Splice_Site|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTCATTCTTACCTTTATGGCA	0.383																																																	0													110	113	112					1																	190233994		2203	4300	6503	SO:0001630	splice_region_variant	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.618+1G>A	1.37:g.190233994C>T			B3KVP1|B7Z260|O95726|Q2M330	Splice_Site	SNP	-	e3+1	ENST00000367462.3	37	c.618+1	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531606	0.64972	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2276	0.86975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM5C	188500617	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.333000	0.79214	2.673000	0.90976	0.585000	0.79938	.	FAM5C	-	-		0.383	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	C	NM_199051	Intron	190233994	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	190233994	C	T	190233994	5	4	64	1	0	0	0	0	0	0	1	0	5612	521	18	4	1701	4	FAM5C	1	190233994	Splice_Site	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	8208052	190233994	59016627	4	9923										
IGFN1	91156	genome.wustl.edu	37	chr1	201177598	201177598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ccaggcaccctgagtcactcGcacctcacaatggggccgct	10	17	2	1	rs573391056		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:201177598G>A	ENST00000335211.4	+	12	3707	c.3577G>A	c.(3577-3579)Gca>Aca	p.A1193T	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Ig-like 5.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGAGTCACTCGCACCTCACAA	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		16582	0		0	False		,,,				2504	0																0													23	22	22					1																	201177598		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3577G>A	1.37:g.201177598G>A	ENSP00000334714:p.Ala1193Thr		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1193T	ENST00000335211.4	37	c.3577	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154086	0.21371	.	.	ENSG00000163395	ENST00000335211	T	0.55052	0.54	2.58	-0.799	0.10901	.	.	.	.	.	T	0.22781	0.0550	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.14144	-1.0483	6	.	.	.	.	1.0794	0.01639	0.15:0.2319:0.3948:0.2233	.	.	.	.	T	1193	ENSP00000334714:A1193T	.	A	+	1	0	IGFN1	199444221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.084000	0.11268	-0.167000	0.10871	-0.448000	0.05591	GCA	IGFN1	-	NULL		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201177598	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A	A	201177598	G	A	201177598	3	1	64	1	0	0	0	0	1	0	0	0	7610	1087	38	2	3619	2	IGFN1	1	201177598	Missense_Mutation	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09	10943604	201177598	48073023	5	9924										
OR2G3	81469	genome.wustl.edu	37	chr1	247768978	247768978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	aggctgttctctttgtatttGtccttttcttctacctcctg	6	11	3	0	rs77435457		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr1:247768978G>C	ENST00000320002.2	+	1	123	c.91G>C	c.(91-93)Gtc>Ctc	p.V31L	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTGTATTTGTCCTTTTCTT	0.468																																																	0													209	214	212					1																	247768978		2203	4300	6503	SO:0001583	missense	81469			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.91G>C	1.37:g.247768978G>C	ENSP00000326301:p.Val31Leu		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V31L	ENST00000320002.2	37	c.91	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	G	9.331	1.060517	0.19987	.	.	ENSG00000177476	ENST00000320002	T	0.00573	6.48	3.79	0.563	0.17296	.	0.241275	0.20321	U	0.094624	T	0.00356	0.0011	N	0.13352	0.335	0.09310	N	1	B	0.26512	0.151	B	0.26770	0.073	T	0.44375	-0.9332	10	0.20046	T	0.44	.	3.1137	0.06367	0.2283:0.0:0.4675:0.3042	.	31	Q8NGZ4	OR2G3_HUMAN	L	31	ENSP00000326301:V31L	ENSP00000326301:V31L	V	+	1	0	OR2G3	245835601	0.000000	0.05858	0.004000	0.12327	0.935000	0.57460	-0.569000	0.05902	0.394000	0.25230	0.486000	0.48141	GTC	OR2G3	-	prints_GPCR_Rhodpsn		0.468	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	G			247768978	1	no_errors	ENST00000320002	ensembl	human	known	70_37	missense	SNP	0.003	C	C	247768978	G	C	247768978	3	2	64	1	0	0	0	0	1	0	0	0	11023	1377	48	4	93	4	OR2G3	1	247768978	Missense_Mutation	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09	46591380	247768978	1481643	6	9925										
TPO	7173	genome.wustl.edu	37	chr2	1491726	1491726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	agcaccttggatctggcgtcCatcaacctgcagaggggccg	13	13	2	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:1491726C>T	ENST00000345913.4	+	10	1822	c.1731C>T	c.(1729-1731)tcC>tcT	p.S577S	TPO_ENST00000349624.3_Silent_p.S404S|TPO_ENST00000382201.3_Intron|TPO_ENST00000337415.3_Silent_p.S577S|TPO_ENST00000382198.1_Silent_p.S404S|TPO_ENST00000329066.4_Silent_p.S577S|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.S577S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	577					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATCTGGCGTCCATCAACCTGC	0.592																																																	0													111	100	104					2																	1491726		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1731C>T	2.37:g.1491726C>T			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S577	ENST00000345913.4	37	c.1731	CCDS1643.1	2																																																																																			TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1491726	1	no_errors	ENST00000329066	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1491726	C	T	1491726	2	4	64	1	0	0	0	0	0	0	0	1	16441	581	21	4		4	TPO	2	1491726	Silent	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09		1491726	241707647	7	9926										
FAM178B	51252	genome.wustl.edu	37	chr2	97637863	97637863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	gggttgaggaattccacgggCggggggctccagtcagtggg	20	8	1	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:97637863C>T	ENST00000417561.3	-	7	782	c.783G>A	c.(781-783)ccG>ccA	p.P261P	FAM178B_ENST00000327896.3_Silent_p.P81P|FAM178B_ENST00000490605.2_Silent_p.P113P			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	261										large_intestine(1)|ovary(1)	2						ATTCCACGGGCGGGGGGCTCC	0.692																																																	0													4	6	5					2																	97637863		672	1556	2228	SO:0001819	synonymous_variant	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.783G>A	2.37:g.97637863C>T			A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Silent	SNP	NULL	p.P261	ENST00000417561.3	37	c.783		2																																																																																			FAM178B	-	NULL		0.692	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		C	NM_016490		97637863	-1	no_errors	ENST00000417561	ensembl	human	known	70_37	silent	SNP	0.589	T	T	97637863	C	T	97637863	2	4	64	1	0	0	0	0	0	0	0	1	5519	755	27	2		2	FAM178B	2	97637863	Silent	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	96146137	97637863	145561510	8	9927										
TTN	7273	genome.wustl.edu	37	chr2	179659227	179659227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	tctcactctggccatatcaaCggcagcaacaacagtcgcaa	7	14	3	0	rs146000949	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:179659227C>T	ENST00000591111.1	-	8	1521	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I	TTN_ENST00000359218.5_Missense_Mutation_p.V433I|TTN_ENST00000460472.2_Missense_Mutation_p.V433I|TTN_ENST00000342992.6_Missense_Mutation_p.V433I|TTN_ENST00000360870.5_Missense_Mutation_p.V433I|TTN_ENST00000342175.6_Missense_Mutation_p.V433I|TTN_ENST00000589042.1_Missense_Mutation_p.V433I			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATATCAACGGCAGCAACA	0.468													C|||	4	0.000798722	0.0015	0	5008	,	,		21043	0		0	False		,,,				2504	0.002																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	152	138	143		1297,1297,1297,1297,1297	5.9	1	2	dbSNP_134	143	2,8598	3.0+/-9.4	0,2,4298	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	433/26927,433/33424,433/5605,433/27052,433/27119	179659227	3,13003	2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1297G>A	2.37:g.179659227C>T	ENSP00000465570:p.Val433Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V433I	ENST00000591111.1	37	c.1297		2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302024	0.60195	2.27E-4	2.33E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68329	0.2989	L	0.27053	0.805	0.27860	N	0.940448	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.81914	0.993;0.993;0.993;0.993;0.995	T	0.65203	-0.6225	9	0.87932	D	0	.	19.8296	0.96630	0.0:1.0:0.0:0.0	.	433;433;433;433;433	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	433;433;433;433;433;433;29	ENSP00000343764:V433I;ENSP00000434586:V433I;ENSP00000340554:V433I;ENSP00000352154:V433I;ENSP00000354117:V433I;ENSP00000405517:V29I	ENSP00000340554:V433I	V	-	1	0	TTN	179367472	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.033000	0.70925	2.780000	0.95670	0.655000	0.94253	GTT	TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179659227	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T	T	179659227	C	T	179659227	3	4	64	1	0	0	0	0	1	0	0	0	16766	536	19	2	110111	2	TTN	2	179659227	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	82021364	179659227	63540146	9	9928										
ASNSD1	54529	genome.wustl.edu	37	chr2	190531908	190531910	+	In_Frame_Del	DEL	TCT	TCT	-													0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	cctttagatgaaccaattgaTcttcttaatgtagctttcat							TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:190531908_190531910delTCT	ENST00000260952.4	+	4	1463_1465	c.1050_1052delTCT	c.(1048-1053)gatctt>gat	p.L352del	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	352	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AACCAATTGATCTTCTTAATGTA	0.369																																																	0																																										SO:0001651	inframe_deletion	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1050_1052delTCT	2.37:g.190531911_190531913delTCT	ENSP00000260952:p.Leu352del		D3DPH6|Q3LIC3|Q4ZG45	In_Frame_Del	DEL	pfam_Asn_synthase	p.L352in_frame_del	ENST00000260952.4	37	c.1050_1052	CCDS2300.1	2																																																																																			ASNSD1	-	pfam_Asn_synthase		0.369	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	TCT	NM_019048		190531910	1	no_errors	ENST00000260952	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	190531910	TCT	-	190531908	7	5	64	1	0	1	0	1	0	0	0	0	1050	1432	50	0	1052	0	ASNSD1	2	190531908	In_Frame_Del	DEL	TCT	TCGA-DS-A3LQ-01A-21D-A21Q-09	10872681	190531908	52667465	10	9929										
SPHKAP	80309	genome.wustl.edu	37	chr2	228883398	228883398	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ccaagccgtacaatatgactCatcttcttgaacgtgaagca	7	11	3	3			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:228883398C>T	ENST00000392056.3	-	7	2218	c.2172G>A	c.(2170-2172)atG>atA	p.M724I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M724I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	724						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAATATGACTCATCTTCTTGA	0.453																																																	0													184	166	172					2																	228883398		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2172G>A	2.37:g.228883398C>T	ENSP00000375909:p.Met724Ile		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.M724I	ENST00000392056.3	37	c.2172	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441110	0.25900	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10573	2.86;2.86	5.81	4.92	0.64577	.	0.037998	0.85682	D	0.000000	T	0.15998	0.0385	M	0.68593	2.085	0.45676	D	0.99859	B;B	0.28880	0.022;0.226	B;B	0.34093	0.012;0.175	T	0.02975	-1.1087	10	0.24483	T	0.36	.	14.6124	0.68524	0.2774:0.7226:0.0:0.0	.	724;724	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	724	ENSP00000375909:M724I;ENSP00000339886:M724I	ENSP00000339886:M724I	M	-	3	0	SPHKAP	228591642	0.988000	0.35896	0.989000	0.46669	0.806000	0.45545	1.394000	0.34509	1.557000	0.49525	0.655000	0.94253	ATG	SPHKAP	-	NULL		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228883398	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.989	T	T	228883398	C	T	228883398	3	4	64	1	0	0	0	0	1	0	0	0	15078	826	29	1	2954	1	SPHKAP	2	228883398	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	38351490	228883398	14315975	11	9930										
KIF1A	547	genome.wustl.edu	37	chr2	241700168	241700168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	atggtgcgggggaagggccgCgtctctcggtctttggcggc	19	10	2	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr2:241700168C>T	ENST00000320389.7	-	24	2489	c.2331G>A	c.(2329-2331)acG>acA	p.T777T	KIF1A_ENST00000498729.2_Silent_p.T786T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	777				T -> K (in Ref. 1; CAA62346). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGAAGGGCCGCGTCTCTCGGT	0.642																																																	0													27	31	30					2																	241700168		1924	4109	6033	SO:0001819	synonymous_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2331G>A	2.37:g.241700168C>T			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T786	ENST00000320389.7	37	c.2358	CCDS46561.1	2																																																																																			KIF1A	-	NULL		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	C	NM_138483		241700168	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	silent	SNP	0.776	T	T	241700168	C	T	241700168	2	4	64	1	0	0	0	0	0	0	0	1	8303	755	27	2		2	KIF1A	2	241700168	Silent	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	12816770	241700168	1499205	12	9931										
KIAA2018	205717	genome.wustl.edu	37	chr3	113376116	113376116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	tgttgttgttgctgttgctgCtgctgctgctgctgctgctg	14	9	0	0	rs112313093|rs59601191		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																																	0													63	72	69					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q1471	ENST00000478658.1	37	c.4413	CCDS43133.1	3																																																																																			KIAA2018	-	NULL		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113376116	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113376116	C	T	113376116	2	4	64	1	0	0	0	0	0	0	0	1	8288	796	28	4		4	KIAA2018	3	113376116	Silent	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09		113376116	84646314	13	9932										
ATP13A5	344905	genome.wustl.edu	37	chr3	193096463	193096463	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	aagactcaccagttcatcctCctctccctggttgagcaaag	7	14	3	2			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr3:193096463C>A	ENST00000342358.4	-	1	169	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTTCATCCTCCTCTCCCTGG	0.468																																																	0													174	160	165					3																	193096463		2203	4300	6503	SO:0001587	stop_gained	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.52G>T	3.37:g.193096463C>A	ENSP00000341942:p.Glu18*		Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E18*	ENST00000342358.4	37	c.52	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.089078	0.98055	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	.	.	.	4.94	4.94	0.65067	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.1331	14.3701	0.66833	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000341942:E18X	E	-	1	0	ATP13A5	194579157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.652000	0.54439	2.678000	0.91216	0.655000	0.94253	GAG	ATP13A5	-	NULL		0.468	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	C	NM_198505		193096463	-1	no_errors	ENST00000342358	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	193096463	C	A	193096463	4	1	64	1	0	0	0	0	0	1	0	0	1128	864	30	3	3722	3	ATP13A5	3	193096463	Nonsense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	79720347	193096463	4925967	14	9933										
DLG1	1739	genome.wustl.edu	37	chr3	196876613	196876613	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	tggggaggaaatggaacttaCgtaagttggtgtttccaagc	14	5	0	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr3:196876613C>T	ENST00000419354.1	-	7	923		c.e7+1		DLG1_ENST00000314062.3_Intron|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000346964.2_Splice_Site|DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000422288.1_Intron|DLG1_ENST00000452595.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000357674.4_Splice_Site			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATGGAACTTACGTAAGTTGGT	0.363																																																	1	Unknown(1)	kidney(1)											259	249	252					3																	196876613		2203	4300	6503	SO:0001630	splice_region_variant	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.636+1G>A	3.37:g.196876613C>T			A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Splice_Site	SNP	-	e6+1	ENST00000419354.1	37	c.636+1	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632818	0.87660	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000419354;ENST00000452595;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4783	0.90800	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG1	198361010	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.158000	0.77470	2.707000	0.92482	0.557000	0.71058	.	DLG1	-	-		0.363	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	C	NM_004087	Intron	196876613	-1	no_errors	ENST00000346964	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	196876613	C	T	196876613	5	4	64	1	0	0	0	0	0	0	1	0	4564	550	19	2	2261	2	DLG1	3	196876613	Splice_Site	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	3780150	196876613	1145817	15	9934										
IL6ST	3572	genome.wustl.edu	37	chr5	55264184	55264184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	cacctcattttcttcccctcGttcacaatgcaactcaaatt	2	15	4	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr5:55264184G>A	ENST00000381298.2	-	5	723	c.411C>T	c.(409-411)aaC>aaT	p.N137N	IL6ST_ENST00000536319.1_Silent_p.N137N|IL6ST_ENST00000381287.4_Silent_p.N137N|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Silent_p.N137N|IL6ST_ENST00000502326.3_Silent_p.N137N|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381294.3_Silent_p.N137N|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000522633.2_Silent_p.N137N|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	137	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTTCCCCTCGTTCACAATGC	0.348			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													132	129	130					5																	55264184		2202	4300	6502	SO:0001819	synonymous_variant	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.411C>T	5.37:g.55264184G>A			A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N137	ENST00000381298.2	37	c.411	CCDS3971.1	5																																																																																			IL6ST	-	pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	G	NM_002184		55264184	-1	no_errors	ENST00000336909	ensembl	human	known	70_37	silent	SNP	0.457	A	A	55264184	G	A	55264184	2	1	64	1	0	0	0	0	0	0	0	1	7723	1136	40	2		2	IL6ST	5	55264184	Silent	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09		55264184	125651076	16	9935										
GPR98	84059	genome.wustl.edu	37	chr5	90445962	90445962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	acccagcacagcctttttcaCgcccgggagtggaatgcctc	10	15	1	0	rs201790936	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr5:90445962C>T	ENST00000405460.2	+	88	18644	c.18548C>T	c.(18547-18549)aCg>aTg	p.T6183M	GPR98_ENST00000425867.2_Missense_Mutation_p.T1844M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6183					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCTTTTTCACGCCCGGGAGT	0.507													C|||	2	0.000399361	0	0	5008	,	,		16815	0		0	False		,,,				2504	0.002																0								C	MET/THR	1,3911		0,1,1955	73	72	72		18548	5	1	5		72	0,8318		0,0,4159	yes	missense	GPR98	NM_032119.3	81	0,1,6114	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	6183/6307	90445962	1,12229	1956	4159	6115	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18548C>T	5.37:g.90445962C>T	ENSP00000384582:p.Thr6183Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.T6183M	ENST00000405460.2	37	c.18548	CCDS47246.1	5	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.10	3.028599	0.54790	2.56E-4	0.0	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29397	1.62;1.57	5.89	5.01	0.66863	.	0.141721	0.47093	D	0.000244	T	0.49779	0.1577	L	0.51422	1.61	0.47862	D	0.999533	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.953;0.974;0.988	T	0.43972	-0.9358	9	.	.	.	.	16.2877	0.82729	0.1334:0.8666:0.0:0.0	.	1844;6183;1844	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	6183;6183;1844	ENSP00000384582:T6183M;ENSP00000392618:T1844M	.	T	+	2	0	GPR98	90481718	0.999000	0.42202	0.957000	0.39632	0.298000	0.27526	5.359000	0.66074	1.440000	0.47531	0.655000	0.94253	ACG	GPR98	-	NULL		0.507	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90445962	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.996	T	T	90445962	C	T	90445962	3	4	64	1	0	0	0	0	1	0	0	0	6741	536	19	2	18898	2	GPR98	5	90445962	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	35181778	90445962	90469298	17	9936										
RUNX2	860	genome.wustl.edu	37	chr6	45480078	45480079	+	Frame_Shift_Ins	INS	-	-	C													0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	cccgtccatccactctaccaINSccccgctgtcttccacacgg							TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr6:45480078_45480079insC	ENST00000371438.1	+	6	1313_1314	c.955_956insC	c.(955-957)accfs	p.T319fs	RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.T319fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.T387fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.T305fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.T305fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.T319fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.T319fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.T387fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	319	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCACTCTACCACCCCGCTGTCT	0.589																																																	0																																										SO:0001589	frameshift_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.959dupC	6.37:g.45480082_45480082dupC	ENSP00000360493:p.Thr319fs		O14614|O14615|O95181	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L389fs	ENST00000371438.1	37	c.1159_1160	CCDS43467.2	6																																																																																			RUNX2	-	NULL		0.589	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	-	NM_004348		45480079	1	no_errors	ENST00000352853	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	45480079	-	C	45480078	7	5	64	1	0	1	1	0	0	0	0	0	13778	159	6	0	993	0	RUNX2	6	45480078	Frame_Shift_Ins	INS	-	TCGA-DS-A3LQ-01A-21D-A21Q-09		45480078	125634989	18	9937										
DNAH11	8701	genome.wustl.edu	37	chr7	21742379	21742379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	agtctgtcttggttgtggctGgatctctgaaacgaggagat	14	6	3	2			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr7:21742379G>A	ENST00000409508.3	+	37	6263	c.6232G>A	c.(6232-6234)Gga>Aga	p.G2078R	DNAH11_ENST00000328843.6_Missense_Mutation_p.G2085R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2085	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTGTGGCTGGATCTCTGAA	0.403									Kartagener syndrome																																								0													113	107	109					7																	21742379		1913	4143	6056	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6232G>A	7.37:g.21742379G>A	ENSP00000475939:p.Gly2078Arg		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2085R	ENST00000409508.3	37	c.6253		7	.	.	.	.	.	.	.	.	.	.	G	32	5.140530	0.94560	.	.	ENSG00000105877	ENST00000328843	T	0.17528	2.27	5.11	5.11	0.69529	.	0.163677	0.53938	D	0.000053	T	0.46171	0.1379	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48843	-0.8999	9	0.87932	D	0	.	18.8973	0.92429	0.0:0.0:1.0:0.0	.	2085	Q96DT5	DYH11_HUMAN	R	2085	ENSP00000330671:G2085R	ENSP00000330671:G2085R	G	+	1	0	DNAH11	21708904	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.547000	0.85894	0.655000	0.94253	GGA	DNAH11	-	NULL		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21742379	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21742379	G	A	21742379	3	1	64	1	0	0	0	0	1	0	0	0	4609	1349	47	4	6400	4	DNAH11	7	21742379	Missense_Mutation	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09		21742379	137396284	19	9938										
CSMD1	64478	genome.wustl.edu	37	chr8	3047499	3047499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	gcacggactggcagtggagcGccgtggaaccctgaagcagg	17	11	0	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr8:3047499G>A	ENST00000520002.1	-	35	5891	c.5336C>T	c.(5335-5337)gCg>gTg	p.A1779V	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1778V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1779V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1779V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1778V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1779V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1778V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1779	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGTGGAGCGCCGTGGAACC	0.617																																																	0													49	55	53					8																	3047499		2001	4156	6157	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5336C>T	8.37:g.3047499G>A	ENSP00000430733:p.Ala1779Val		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A1779V	ENST00000520002.1	37	c.5336		8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321648	0.81580	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	L	0.33485	1.01	0.80722	D	1	D;P;D	0.89917	1.0;0.895;0.998	D;P;D	0.85130	0.997;0.853;0.928	T	0.66069	-0.6015	10	0.25751	T	0.34	.	19.4214	0.94723	0.0:0.0:1.0:0.0	.	1779;1779;1779	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	V	1779;1779;1641;1778;1778;1778	ENSP00000383047:A1779V;ENSP00000430733:A1779V;ENSP00000441462:A1778V;ENSP00000446243:A1778V;ENSP00000441675:A1778V	ENSP00000320445:A1641V	A	-	2	0	CSMD1	3034906	1.000000	0.71417	0.245000	0.24217	0.632000	0.37999	9.538000	0.98072	2.653000	0.90120	0.544000	0.68410	GCG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.617	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3047499	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3047499	G	A	3047499	3	1	64	1	0	0	0	0	1	0	0	0	3949	1087	38	2	5509	2	CSMD1	8	3047499	Missense_Mutation	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09		3047499	143316523	20	9939										
DBC1	1620	genome.wustl.edu	37	chr9	122011392	122011392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	cggaccagatctctcctctcGatggctgtgttcctcacctt	8	15	3	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr9:122011392G>A	ENST00000265922.3	-	3	716	c.255C>T	c.(253-255)atC>atT	p.I85I	BRINP1_ENST00000373964.2_Silent_p.I85I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	85	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTCTCCTCTCGATGGCTGTGT	0.552																																																	0													102	89	94					9																	122011392		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.255C>T	9.37:g.122011392G>A			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.I85	ENST00000265922.3	37	c.255	CCDS6822.1	9																																																																																			DBC1	-	pfam_MACPF,smart_MACPF		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		122011392	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	0.905	A	A	122011392	G	A	122011392	2	1	64	1	0	0	0	0	0	0	0	1	4252	1048	37	1		1	DBC1	9	122011392	Silent	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09		122011392	19202039	21	9940										
BRD3	8019	genome.wustl.edu	37	chr9	136913301	136913301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ggcttgtagaagggccaggcGtaggccgcgtgcttcttgga	17	9	1	1	rs372612317		TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr9:136913301G>A	ENST00000303407.7	-	6	1175	c.990C>T	c.(988-990)taC>taT	p.Y330Y	BRD3_ENST00000371834.2_Silent_p.Y330Y|BRD3_ENST00000357885.2_Silent_p.Y330Y	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	330	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGGGCCAGGCGTAGGCCGCGT	0.607			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0								G		0,4404		0,0,2202	89	58	68		990	2	1	9		68	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	BRD3	NM_007371.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		330/727	136913301	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.990C>T	9.37:g.136913301G>A			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Y330	ENST00000303407.7	37	c.990	CCDS6980.1	9																																																																																			BRD3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.607	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	G	NM_007371		136913301	-1	no_errors	ENST00000303407	ensembl	human	known	70_37	silent	SNP	1.000	A	A	136913301	G	A	136913301	2	1	64	1	0	0	0	0	0	0	0	1	1506	1140	40	2		2	BRD3	9	136913301	Silent	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09	14901909	136913301	4300130	22	9941										
RAD51AP1	10635	genome.wustl.edu	37	chr12	4668038	4668038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ttcagcggcatctggaggtaGcagaagtagcagcagcccac	13	11	2	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr12:4668038G>A	ENST00000544927.1	+	8	689	c.679G>A	c.(679-681)Gca>Aca	p.A227T	RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S313N|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S263N|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S194N|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S296N					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTGGAGGTAGCAGAAGTAGC	0.423																																																	0													114	99	104					12																	4668038		2203	4300	6503	SO:0001583	missense	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.679G>A	12.37:g.4668038G>A	ENSP00000446296:p.Ala227Thr			Missense_Mutation	SNP	NULL	p.S313N	ENST00000544927.1	37	c.938		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.434|9.434	1.086349|1.086349	0.20390|0.20390	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000544927|ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T|T;T;T;T	0.24908|0.50548	1.83|0.74;0.74;0.74;0.74	4.67|4.67	3.78|3.78	0.43462|0.43462	.|.	.|0.483859	.|0.18543	.|N	.|0.138155	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.55481|0.55481	1.735|1.735	0.27367|0.27367	N|N	0.955803|0.955803	.|P;B;B;B	.|0.46142	.|0.873;0.077;0.077;0.041	.|P;B;B;B	.|0.46452	.|0.517;0.021;0.014;0.027	T|T	0.35475|0.35475	-0.9787|-0.9787	7|10	0.87932|0.41790	D|T	0|0.15	-0.6676|-0.6676	8.3706|8.3706	0.32412|0.32412	0.1062:0.0:0.8938:0.0|0.1062:0.0:0.8938:0.0	.|.	.|194;313;313;296	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	T|N	227|263;194;313;296	ENSP00000446296:A227T|ENSP00000323750:S263N;ENSP00000439960:S194N;ENSP00000228843:S313N;ENSP00000309479:S296N	ENSP00000446296:A227T|ENSP00000228843:S313N	A|S	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4538299|4538299	1.000000|1.000000	0.71417|0.71417	0.435000|0.435000	0.26784|0.26784	0.825000|0.825000	0.46686|0.46686	2.622000|2.622000	0.46427|0.46427	1.194000|1.194000	0.43101|0.43101	0.655000|0.655000	0.94253|0.94253	GCA|AGC	RAD51AP1	-	NULL		0.423	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	RAD51AP1	HGNC	protein_coding	OTTHUMT00000399208.1	G	NM_006479		4668038	1	no_errors	ENST00000228843	ensembl	human	known	70_37	missense	SNP	0.884	A	A	4668038	G	A	4668038	3	1	64	1	0	0	0	0	1	0	0	0	13016	971	34	4	976	4	RAD51AP1	12	4668038	Missense_Mutation	SNP	G	TCGA-DS-A3LQ-01A-21D-A21Q-09		4668038	129183857	23	9942										
RARG	5916	genome.wustl.edu	37	chr12	53605639	53605639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	catcttcagagtaatggcccTttcagctcctacaatggaga	8	11	3	2			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr12:53605639T>C	ENST00000425354.2	-	10	1673	c.1186A>G	c.(1186-1188)Agg>Ggg	p.R396G	RARG_ENST00000543726.1_Missense_Mutation_p.R374G|RARG_ENST00000394426.1_Missense_Mutation_p.R396G|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.R385G|RARG_ENST00000327550.3_Missense_Mutation_p.R324G	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	396	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GTAATGGCCCTTTCAGCTCCT	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	55	55					12																	53605639		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1186A>G	12.37:g.53605639T>C	ENSP00000388510:p.Arg396Gly	993	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R396G	ENST00000425354.2	37	c.1186	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289648	0.59976	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.88	-2.18	0.07037	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.226336	0.42172	D	0.000749	T	0.60353	0.2262	M	0.85197	2.74	0.58432	D	0.999992	D;P;D	0.76494	0.975;0.925;0.999	P;P;D	0.75020	0.505;0.574;0.985	T	0.72164	-0.4373	10	0.87932	D	0	.	16.7937	0.85596	0.0:0.0:0.795:0.205	.	374;396;385	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	G	396;396;324;385;374	ENSP00000388510:R396G;ENSP00000377947:R396G;ENSP00000332695:R324G;ENSP00000343698:R385G;ENSP00000444335:R374G	ENSP00000332695:R324G	R	-	1	2	RARG	51891906	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	2.521000	0.45563	-0.070000	0.12908	0.460000	0.39030	AGG	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt		0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	T	NM_000966		53605639	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53605639	T	C	53605639	3	2	64	1	0	0	0	0	1	0	0	0	13084	1608	56	5	182	5	RARG	12	53605639	Missense_Mutation	SNP	T	TCGA-DS-A3LQ-01A-21D-A21Q-09	48937601	53605639	80246256	24	9943										
PABPC3	5042	genome.wustl.edu	37	chr13	25671667	25671667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	acctcatccattccaaaataAgcccagtgctatccgcccag	5	16	1	0	rs75484271	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr13:25671667A>T	ENST00000281589.3	+	1	1368	c.1331A>T	c.(1330-1332)aAg>aTg	p.K444M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	444					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTCCAAAATAAGCCCAGTGCT	0.512													a|||	614	0.122604	0.177	0.098	5008	,	,		24217	0.0744		0.0686	False		,,,				2504	0.1718																0													139	137	138					13																	25671667		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1331A>T	13.37:g.25671667A>T	ENSP00000281589:p.Lys444Met		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.K444M	ENST00000281589.3	37	c.1331	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	1.693	-0.503632	0.04261	.	.	ENSG00000151846	ENST00000281589	T	0.25749	1.78	0.875	-1.75	0.08031	.	0.098626	0.41194	N	0.000937	T	0.02455	0.0075	N	0.00054	-2.38	0.23962	N	0.996331	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.02654	T	1	.	2.1823	0.03878	0.2572:0.2138:0.0:0.529	.	444	Q9H361	PABP3_HUMAN	M	444	ENSP00000281589:K444M	ENSP00000281589:K444M	K	+	2	0	PABPC3	24569667	1.000000	0.71417	0.893000	0.35052	0.101000	0.19017	2.376000	0.44292	-1.161000	0.02800	-0.991000	0.02546	AAG	PABPC3	-	tigrfam_PABP_1234		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	A	NM_030979		25671667	1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25671667	A	T	25671667	3	4	64	1	0	0	0	0	1	0	0	0	11389	72	3	5	1333	5	PABPC3	13	25671667	Missense_Mutation	SNP	A	TCGA-DS-A3LQ-01A-21D-A21Q-09		25671667	89498211	25	9944										
HERC2	8924	genome.wustl.edu	37	chr15	28443555	28443555	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	cccacactctgatgagtcacAgatccccatttgtattttgg	7	12	2	3			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr15:28443555A>T	ENST00000261609.7	-	50	8088	c.7980T>A	c.(7978-7980)tcT>tcA	p.S2660S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATGAGTCACAGATCCCCATT	0.403																																																	0													77	80	79					15																	28443555		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7980T>A	15.37:g.28443555A>T				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S2660	ENST00000261609.7	37	c.7980	CCDS10021.1	15																																																																																			HERC2	-	NULL		0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	A	NM_004667		28443555	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	0.834	T	T	28443555	A	T	28443555	2	4	64	1	0	0	0	0	0	0	0	1	7078	175	7	5		5	HERC2	15	28443555	Silent	SNP	A	TCGA-DS-A3LQ-01A-21D-A21Q-09		28443555	74087837	26	9945										
BTBD1	53339	genome.wustl.edu	37	chr15	83718834	83718834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	agcgaacttacctatatcaaTatcagtaaacccttctgcac	4	12	3	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr15:83718834T>C	ENST00000261721.4	-	3	857	c.655A>G	c.(655-657)Att>Gtt	p.I219V	BTBD1_ENST00000379403.2_Missense_Mutation_p.I219V|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	219					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CCTATATCAATATCAGTAAAC	0.353																																																	0													125	116	119					15																	83718834		2202	4300	6502	SO:0001583	missense	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.655A>G	15.37:g.83718834T>C	ENSP00000261721:p.Ile219Val		A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.I219V	ENST00000261721.4	37	c.655	CCDS10322.1	15	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718749	0.48622	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.68624	-0.34;-0.34	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.29908	0.895	0.58432	D	0.999996	B;B	0.26445	0.149;0.039	B;B	0.33960	0.173;0.107	T	0.58847	-0.7564	10	0.44086	T	0.13	-28.6022	15.9211	0.79575	0.0:0.0:0.0:1.0	.	219;219	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	V	219	ENSP00000261721:I219V;ENSP00000368713:I219V	ENSP00000261721:I219V	I	-	1	0	BTBD1	81509838	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.837000	0.62796	2.210000	0.71456	0.533000	0.62120	ATT	BTBD1	-	pfam_BACK,smart_BACK		0.353	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	T			83718834	-1	no_errors	ENST00000261721	ensembl	human	known	70_37	missense	SNP	1.000	C	C	83718834	T	C	83718834	3	2	64	1	0	0	0	0	1	0	0	0	1540	1406	49	5	817	5	BTBD1	15	83718834	Missense_Mutation	SNP	T	TCGA-DS-A3LQ-01A-21D-A21Q-09	55275279	83718834	18812558	27	9946										
TSC2	7249	genome.wustl.edu	37	chr16	2121565	2121565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	cactgcaccgcctgggcctgCccaacaaggatggagtcgtg	13	14	0	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr16:2121565C>T	ENST00000219476.3	+	18	2524	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S	TSC2_ENST00000439673.2_Missense_Mutation_p.P595S|TSC2_ENST00000350773.4_Missense_Mutation_p.P632S|TSC2_ENST00000382538.6_Missense_Mutation_p.P583S|TSC2_ENST00000353929.4_Missense_Mutation_p.P632S|TSC2_ENST00000401874.2_Missense_Mutation_p.P632S|TSC2_ENST00000568454.1_Missense_Mutation_p.P643S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	632					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGGGCCTGCCCAACAAGGA	0.642			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													80	56	64					16																	2121565		2198	4299	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1894C>T	16.37:g.2121565C>T	ENSP00000219476:p.Pro632Ser		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.P632S	ENST00000219476.3	37	c.1894	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304184	0.60305	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.45	5.45	0.79879	Tuberin-type domain (1);	0.119861	0.56097	D	0.000023	D	0.84316	0.5445	L	0.42487	1.325	0.51482	D	0.999928	B;B;B;B;B;B	0.27450	0.179;0.031;0.019;0.07;0.041;0.012	B;B;B;B;B;B	0.34931	0.192;0.076;0.05;0.121;0.032;0.019	T	0.77933	-0.2402	10	0.19590	T	0.45	-39.8351	9.129	0.36833	0.0:0.7653:0.1506:0.0841	.	583;595;632;632;632;632	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	S	632;632;632;595;583;632	ENSP00000219476:P632S;ENSP00000384468:P632S;ENSP00000248099:P632S;ENSP00000399232:P595S;ENSP00000371978:P583S;ENSP00000344383:P632S	ENSP00000219476:P632S	P	+	1	0	TSC2	2061566	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	1.624000	0.37018	2.551000	0.86045	0.462000	0.41574	CCC	TSC2	-	pfam_Tuberin-type_domain		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2121565	1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2121565	C	T	2121565	3	4	64	1	0	0	0	0	1	0	0	0	16637	739	26	4	1960	4	TSC2	16	2121565	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09		2121565	88233188	28	9947										
TRIP10	9322	genome.wustl.edu	37	chr19	6750600	6750600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	tgaggatttcgaggaggaacCcacatcccccataggtcact	10	12	1	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:6750600C>T	ENST00000313244.9	+	14	1648	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	TRIP10_ENST00000596758.1_Missense_Mutation_p.P482L|TRIP10_ENST00000600428.1_Missense_Mutation_p.P374L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P482L|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	538	Interaction with DNM1 and WASL.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGGAGGAACCCACATCCCCC	0.557																																																	0													102	85	91					19																	6750600		2203	4300	6503	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1613C>T	19.37:g.6750600C>T	ENSP00000320117:p.Pro538Leu		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.P538L	ENST00000313244.9	37	c.1613		19	.	.	.	.	.	.	.	.	.	.	C	9.840	1.190716	0.21954	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.73897	-0.79;-0.79	4.78	2.61	0.31194	Src homology-3 domain (1);	0.330581	0.28436	N	0.015351	T	0.58235	0.2108	L	0.34521	1.04	0.24831	N	0.992528	B;B;B	0.32573	0.008;0.376;0.0	B;B;B	0.28465	0.03;0.09;0.0	T	0.50516	-0.8819	10	0.45353	T	0.12	-8.0996	7.6012	0.28077	0.1633:0.7485:0.0:0.0882	.	482;538;482	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	L	482;538;482	ENSP00000320493:P482L;ENSP00000320117:P538L	ENSP00000320117:P538L	P	+	2	0	TRIP10	6701600	0.001000	0.12720	0.040000	0.18447	0.504000	0.33889	0.560000	0.23500	0.600000	0.29862	0.313000	0.20887	CCC	TRIP10	-	superfamily_SH3_domain		0.557	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	C			6750600	1	no_errors	ENST00000313244	ensembl	human	known	70_37	missense	SNP	0.186	T	T	6750600	C	T	6750600	3	4	64	1	0	0	0	0	1	0	0	0	16585	623	22	4	1495	4	TRIP10	19	6750600	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09		6750600	52378383	29	9948										
CILP2	148113	genome.wustl.edu	37	chr19	19654947	19654947	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	gtggaccccagcggtgagttCatggacgctgtccgggtctt	15	11	2	1			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:19654947C>T	ENST00000291495.5	+	8	1678	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	CILP2_ENST00000586018.1_Silent_p.F537F	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	531						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGGTGAGTTCATGGACGCTG	0.602																																																	0													34	37	36					19																	19654947		2203	4300	6503	SO:0001819	synonymous_variant	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1593C>T	19.37:g.19654947C>T			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.F531	ENST00000291495.5	37	c.1593	CCDS12405.1	19																																																																																			CILP2	-	superfamily_Carb-bd-like_fold		0.602	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	C	NM_153221		19654947	1	no_errors	ENST00000291495	ensembl	human	known	70_37	silent	SNP	0.988	T	T	19654947	C	T	19654947	2	4	64	1	0	0	0	0	0	0	0	1	3435	825	29	1		1	CILP2	19	19654947	Silent	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	12904347	19654947	39474036	30	9949										
ZNF45	7596	genome.wustl.edu	37	chr19	44418081	44418081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	gaaggccttaccacacctctCgcatttatagggtttctctc	7	13	2	0			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:44418081C>T	ENST00000269973.5	-	10	2597	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	ZNF45_ENST00000589703.1_Missense_Mutation_p.E503K|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	503					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CCACACCTCTCGCATTTATAG	0.488																																																	0													59	57	57					19																	44418081		2203	4300	6503	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1507G>A	19.37:g.44418081C>T	ENSP00000269973:p.Glu503Lys		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E503K	ENST00000269973.5	37	c.1507	CCDS12632.1	19	.	.	.	.	.	.	.	.	.	.	C	7.907	0.735737	0.15574	.	.	ENSG00000124459	ENST00000269973	T	0.06608	3.28	3.61	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36854	N	0.002365	T	0.03178	0.0093	N	0.21545	0.675	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.48068	-0.9067	10	0.02654	T	1	-11.4975	5.8326	0.18588	0.1952:0.6943:0.0:0.1105	.	503	Q02386	ZNF45_HUMAN	K	503	ENSP00000269973:E503K	ENSP00000269973:E503K	E	-	1	0	ZNF45	49109921	0.000000	0.05858	0.999000	0.59377	0.976000	0.68499	-2.104000	0.01340	2.026000	0.59711	0.455000	0.32223	GAG	ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	C	NM_003425		44418081	-1	no_errors	ENST00000269973	ensembl	human	known	70_37	missense	SNP	0.023	T	T	44418081	C	T	44418081	3	4	64	1	0	0	0	0	1	0	0	0	17951	893	31	1	545	1	ZNF45	19	44418081	Missense_Mutation	SNP	C	TCGA-DS-A3LQ-01A-21D-A21Q-09	24763134	44418081	14710902	31	9950										
ZNF814	730051	genome.wustl.edu	37	chr19	58385873	58385873	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	ccacattctccacattcatgTtttttttcagtgtgaactct	4	11	4	1	rs397978905	byFrequency	TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chr19:58385873T>C	ENST00000435989.2	-	3	1119	c.885A>G	c.(883-885)aaA>aaG	p.K295K	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	295					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACATTCATGTTTTTTTTCAG	0.358																																																	0													17	13	14					19																	58385873		687	1561	2248	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.885A>G	19.37:g.58385873T>C			A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K295	ENST00000435989.2	37	c.885	CCDS46212.1	19																																																																																			ZNF814	-	pfscan_Znf_C2H2		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	T	XM_001725708		58385873	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.002	C	C	58385873	T	C	58385873	2	2	64	1	0	0	0	0	0	0	0	1	18206	1722	60	5		5	ZNF814	19	58385873	Silent	SNP	T	TCGA-DS-A3LQ-01A-21D-A21Q-09	13967792	58385873	743110	32	9951										
CXorf26	51260	genome.wustl.edu	37	chrX	75397718	75397718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	0.88749530184039	0.683229813664596	0	0.714285714285714	0.333333333333333	0.569890847767481	0	agaagctgacaaagaaatcaAcaaaagtggtgaaaaagcta	9	5	1	4			TCGA-DS-A3LQ-01A-21D-A21Q-09	TCGA-DS-A3LQ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e2b50946-df37-45fb-b26c-236b264da1fc	be684ac0-dfad-48b1-a133-e2e5873099b4	g.chrX:75397718A>G	ENST00000373358.3	+	6	880	c.677A>G	c.(676-678)aAc>aGc	p.N226S	PBDC1_ENST00000373357.3_Missense_Mutation_p.T189A	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	226																	aaagaaATCAACAAAAGTGGT	0.408																																																	0													114	109	110					X																	75397718		2203	4300	6503	SO:0001583	missense	51260			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.677A>G	X.37:g.75397718A>G	ENSP00000362456:p.Asn226Ser			Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.N226S	ENST00000373358.3	37	c.677	CCDS14432.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.245|0.245	-1.010559|-1.010559	0.02095|0.02095	.|.	.|.	ENSG00000102390|ENSG00000102390	ENST00000373358|ENST00000373357	.|.	.|.	.|.	3.76|3.76	-1.83|-1.83	0.07833|0.07833	.|.	1.604530|.	0.03093|.	N|.	0.160027|.	T|T	0.12135|0.12135	0.0295|0.0295	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.04013|.	0.001|.	T|T	0.22382|0.22382	-1.0218|-1.0218	9|6	0.18276|0.72032	T|D	0.48|0.01	-2.8237|-2.8237	2.3525|2.3525	0.04287|0.04287	0.3896:0.0:0.2321:0.3784|0.3896:0.0:0.2321:0.3784	.|.	226|.	Q9BVG4|.	CX026_HUMAN|.	S|A	226|189	.|.	ENSP00000362456:N226S|ENSP00000362455:T189A	N|T	+|+	2|1	0|0	CXorf26|CXorf26	75314121|75314121	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.246000|0.246000	0.25737|0.25737	-0.176000|-0.176000	0.09811|0.09811	-0.452000|-0.452000	0.07087|0.07087	-0.365000|-0.365000	0.07479|0.07479	AAC|ACA	CXorf26	-	NULL		0.408	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf26	HGNC	protein_coding	OTTHUMT00000057294.1	A	NM_016500		75397718	1	no_errors	ENST00000373358	ensembl	human	known	70_37	missense	SNP	0.000	G	G	75397718	A	G	75397718	3	3	64	1	0	0	0	0	1	0	0	0	4109	43	2	5	699	5	CXorf26	23	75397718	Missense_Mutation	SNP	A	TCGA-DS-A3LQ-01A-21D-A21Q-09		75397718	79872842	33	9952										
CAMTA1	23261	genome.wustl.edu	37	chr1	7723699	7723699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tcccctgtgtccatcagcagCgggctcaacagcgacccgga	11	16	2	0	rs370847468		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:7723699C>T	ENST00000303635.7	+	9	1299	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	CAMTA1_ENST00000439411.2_Silent_p.S364S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCATCAGCAGCGGGCTCAACA	0.657			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								C		1,4405	2.1+/-5.4	0,1,2202	97	97	97		1092	-0.3	1	1		97	0,8600		0,0,4300	no	coding-synonymous	CAMTA1	NM_015215.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		364/1674	7723699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1092C>T	1.37:g.7723699C>T			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S364	ENST00000303635.7	37	c.1092	CCDS30576.1	1																																																																																			CAMTA1	-	NULL		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	C	NM_015215		7723699	1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	0.996	T	T	7723699	C	T	7723699	2	4	65	1	0	0	0	0	0	0	0	1	2618	767	27	2		2	CAMTA1	1	7723699	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		7723699	241526922	1	9953										
DDI2	84301	genome.wustl.edu	37	chr1	15959933	15959933	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttttctcccttatttttgtaGagaaattttctagagtcctg	6	7	2	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:15959933G>T	ENST00000480945.1	+	4	676		c.e4-1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)								aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATTTTTGTAGAGAAATTTTC	0.393																																																	0													118	146	136					1																	15959933		2203	4300	6503	SO:0001630	splice_region_variant	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.506-1G>T	1.37:g.15959933G>T			A8KAE1|Q7RTZ0|Q9BRT1	Splice_Site	SNP	-	e4-1	ENST00000480945.1	37	c.506-1	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347489	0.82022	.	.	ENSG00000197312	ENST00000480945	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3107	0.94186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDI2	15832520	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	9.400000	0.97290	2.657000	0.90304	0.655000	0.94253	.	DDI2	-	-		0.393	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	G	NM_032341	Intron	15959933	1	no_errors	ENST00000480945	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	15959933	G	T	15959933	5	4	65	1	0	0	0	0	0	0	1	0	4334	956	33	3	519	3	DDI2	1	15959933	Splice_Site	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	8236234	15959933	233290688	2	9954										
CSMD2	114784	genome.wustl.edu	37	chr1	34192168	34192168	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctgtcgaaggtgattttgatGgggtagcctggctgggcctc	16	8	0	2	rs549017762		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:34192168G>T	ENST00000373381.4	-	16	2663	c.2487C>A	c.(2485-2487)ccC>ccA	p.P829P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	789	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATTTTGATGGGGTAGCCTG	0.597																																																	0													52	56	55					1																	34192168		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2487C>A	1.37:g.34192168G>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P829	ENST00000373381.4	37	c.2487		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		G	NM_052896		34192168	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34192168	G	T	34192168	2	4	65	1	0	0	0	0	0	0	0	1	3950	1335	47	4		4	CSMD2	1	34192168	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	18232235	34192168	215058453	3	9955										
WLS	79971	genome.wustl.edu	37	chr1	68591956	68591956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cttgtagatctcagtgggtcCgtccacatgggtgatagtgg	14	8	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:68591956C>T	ENST00000262348.4	-	12	1832	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Intron|WLS_ENST00000540432.1_Intron|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.G436R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	527					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TCAGTGGGTCCGTCCACATGG	0.577																																																	0													111	96	101					1																	68591956		2203	4300	6503	SO:0001583	missense	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1579G>A	1.37:g.68591956C>T	ENSP00000262348:p.Gly527Arg		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.G527R	ENST00000262348.4	37	c.1579	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.099136	0.94197	.	.	ENSG00000116729	ENST00000262348;ENST00000370976	T;T	0.47177	0.86;0.85	6.16	6.16	0.99307	.	.	.	.	.	T	0.49490	0.1560	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.91635	0.534;0.999	T	0.50338	-0.8840	9	0.49607	T	0.09	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	436;527	Q5JRS7;Q5T9L3	.;WLS_HUMAN	R	527;436	ENSP00000262348:G527R;ENSP00000360015:G436R	ENSP00000262348:G527R	G	-	1	0	WLS	68364544	1.000000	0.71417	0.973000	0.42090	0.973000	0.67179	5.345000	0.65987	2.937000	0.99478	0.650000	0.86243	GGA	WLS	-	NULL		0.577	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	C	NM_024911		68591956	-1	no_errors	ENST00000262348	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68591956	C	T	68591956	3	4	65	1	0	0	0	0	1	0	0	0	17407	661	23	2	176	2	WLS	1	68591956	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	34399788	68591956	180658665	4	9956										
RPE65	6121	genome.wustl.edu	37	chr1	68896859	68896859	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tttgacattcagcttacagaGctgtttgtgagaaagaaaaa	9	5	1	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:68896859G>T	ENST00000262340.5	-	13	1392	c.1339C>A	c.(1339-1341)Ctc>Atc	p.L447I		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	447					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AGCTTACAGAGCTGTTTGTGA	0.373																																																	0													58	60	60					1																	68896859		2203	4300	6503	SO:0001630	splice_region_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1339-1C>A	1.37:g.68896859G>T			A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.L447I	ENST00000262340.5	37	c.1339	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	G	3.344	-0.134059	0.06711	.	.	ENSG00000116745	ENST00000262340	D	0.95885	-3.84	5.13	4.21	0.49690	.	0.108524	0.64402	N	0.000010	D	0.89417	0.6709	N	0.21448	0.665	0.45634	D	0.998565	P	0.35363	0.497	P	0.52454	0.699	D	0.85809	0.1378	10	0.06494	T	0.89	0.6119	9.9986	0.41916	0.096:0.0:0.904:0.0	.	447	Q16518	RPE65_HUMAN	I	447	ENSP00000262340:L447I	ENSP00000262340:L447I	L	-	1	0	RPE65	68669447	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	5.457000	0.66672	1.149000	0.42402	0.555000	0.69702	CTC	RPE65	-	pfam_Carotenoid_Oase		0.373	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	G	NM_000329	Missense_Mutation	68896859	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	0.996	T	T	68896859	G	T	68896859	5	4	65	1	0	0	0	0	0	0	1	0	13575	985	34	4	270	4	RPE65	1	68896859	Splice_Site	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	304903	68896859	180353762	5	9957										
PTGER3	5733	genome.wustl.edu	37	chr1	71418672	71418672	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tttcttctctgttcagcacaCgataggtttgtacttgccca	7	11	3	0	rs202177071		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:71418672C>T	ENST00000414819.1	-	0	1497				PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Missense_Mutation_p.R392H|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GTTCAGCACACGATAGGTTTG	0.393																																																	0								C	,,,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	233	212	219		,,,,1175	-1.7	0	1		219	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,intron,intron,intron,missense	PTGER3	NM_001126044.1,NM_198714.1,NM_198716.1,NM_198717.1,NM_198718.1	,,,,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,,,,possibly-damaging	,,,,392/419	71418672	3,13003	2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*94G>A	1.37:g.71418672C>T			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.R392H	ENST00000414819.1	37	c.1175	CCDS656.1	1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170264	0.09339	4.54E-4	1.16E-4	ENSG00000050628	ENST00000356595	T	0.12879	2.64	2.2	-1.68	0.08212	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46133	-0.9213	9	0.46703	T	0.11	.	5.7869	0.18338	0.0:0.4862:0.0:0.5138	.	392	B1AK19	.	H	392	ENSP00000349003:R392H	ENSP00000349003:R392H	R	-	2	0	PTGER3	71191260	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.791000	0.00767	-0.404000	0.07610	-0.786000	0.03341	CGT	PTGER3	-	NULL		0.393	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026077.1	C	NM_000957		71418672	-1	no_errors	ENST00000356595	ensembl	human	known	70_37	missense	SNP	0.000	T	T	71418672	C	T	71418672	1	4	65	0	1	0	0	0	0	0	0	0	12772	536	19	2		2	PTGER3	1	71418672	3'UTR	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	2521813	71418672	177831949	6	9958										
NBPF9	0	genome.wustl.edu	37	chr1	144618251	144618251	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	acctccaagaacagctggctGaggggtgtagactggcacag	14	10	0	3			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:144618251G>A								RP11-640M9.2 (12360 upstream) : NBPF9 (193492 downstream)																							ACAGCTGGCTGAGGGGTGTAG	0.587																																																	0													2	2	2					1																	144618251		594	1330	1924	SO:0001628	intergenic_variant	728841																															1.37:g.144618251G>A				RNA	SNP	-	NULL		37	NULL		1																																																																																			NBPF8	-	-	0	0.587					NBPF8	HGNC			G			144618251	1	no_errors	ENST00000421407	ensembl	human	known	70_37	rna	SNP	0.059	A	A	144618251	G	A	144618251	1	1	65	0	1	0	0	0	0	0	0	0	10223	1291	45	1		1	NBPF9	1	144618251	IGR	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	73199579	144618251	104632370	7	9959										
S100A3	6274	genome.wustl.edu	37	chr1	153520280	153520280	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gcagtccttgttggtgtccaGaacactcatgaatttgttgt	10	8	1	2	rs116208483	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:153520280G>A	ENST00000368713.3	-	3	380	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000481009.1_5'Flank|S100A3_ENST00000368712.1_Silent_p.L62L|S100A4_ENST00000368715.1_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	62	EF-hand 2.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGGTGTCCAGAACACTCATG	0.532																																																	0													254	220	232					1																	153520280		2203	4300	6503	SO:0001819	synonymous_variant	6274			BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.184C>T	1.37:g.153520280G>A			D3DV51|Q6FGE4	Silent	SNP	pfam_S100_Ca-bd_sub	p.L62	ENST00000368713.3	37	c.184	CCDS1043.1	1																																																																																			S100A3	-	NULL		0.532	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A3	HGNC	protein_coding	OTTHUMT00000037726.1	G	NM_002960		153520280	-1	no_errors	ENST00000368712	ensembl	human	known	70_37	silent	SNP	0.543	A	A	153520280	G	A	153520280	2	1	65	1	0	0	0	0	0	0	0	1	13809	933	33	1		1	S100A3	1	153520280	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	8902029	153520280	95730341	8	9960										
SEMA4A	64218	genome.wustl.edu	37	chr1	156126335	156126335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	attctggccttggatatccaGgatccaggggtccccaggct	12	12	1	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:156126335G>T	ENST00000368285.3	+	3	537	c.270G>T	c.(268-270)caG>caT	p.Q90H	SEMA4A_ENST00000368282.1_Missense_Mutation_p.Q90H|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.Q90H|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	90	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGATATCCAGGATCCAGGGG	0.577																																																	0													54	53	53					1																	156126335		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.270G>T	1.37:g.156126335G>T	ENSP00000357268:p.Gln90His		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.Q90H	ENST00000368285.3	37	c.270	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308094	0.40895	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.73	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.311170	0.05575	N	0.571744	T	0.09862	0.0242	L	0.27053	0.805	0.18873	N	0.999981	P	0.38370	0.628	P	0.50314	0.637	T	0.42224	-0.9464	10	0.27785	T	0.31	.	5.6982	0.17867	0.2125:0.2243:0.5631:0.0	.	90	Q9H3S1	SEM4A_HUMAN	H	90;90;90;52;52;90;90	ENSP00000401391:Q90H;ENSP00000347117:Q90H;ENSP00000357268:Q90H;ENSP00000392865:Q90H;ENSP00000357265:Q90H	ENSP00000347117:Q90H	Q	+	3	2	SEMA4A	154392959	0.000000	0.05858	0.983000	0.44433	0.377000	0.30045	-0.027000	0.12371	0.480000	0.27534	0.467000	0.42956	CAG	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.577	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	G	NM_022367		156126335	1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	0.144	T	T	156126335	G	T	156126335	3	4	65	1	0	0	0	0	1	0	0	0	14061	991	35	4	276	4	SEMA4A	1	156126335	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	2606055	156126335	93124286	9	9961										
APCS	325	genome.wustl.edu	37	chr1	159558199	159558199	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agtcctcatcaggtattgctGaattttggatcaatgggaca	10	7	3	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:159558199G>A	ENST00000255040.2	+	2	470	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	125	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGGTATTGCTGAATTTTGGAT	0.468																																																	0													76	75	75					1																	159558199		2203	4300	6503	SO:0001583	missense	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.373G>A	1.37:g.159558199G>A	ENSP00000255040:p.Glu125Lys			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.E125K	ENST00000255040.2	37	c.373	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165373	0.57476	.	.	ENSG00000132703	ENST00000255040	T	0.09255	3.0	4.25	-1.54	0.08584	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.254839	0.38837	N	0.001545	T	0.13114	0.0318	M	0.79475	2.455	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.04041	-1.0982	10	0.72032	D	0.01	-6.4985	5.4735	0.16682	0.2824:0.4264:0.2912:0.0	.	125	P02743	SAMP_HUMAN	K	125	ENSP00000255040:E125K	ENSP00000255040:E125K	E	+	1	0	APCS	157824823	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	0.643000	0.24750	-0.395000	0.07715	0.655000	0.94253	GAA	APCS	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.468	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	G	NM_001639		159558199	1	no_errors	ENST00000255040	ensembl	human	known	70_37	missense	SNP	0.004	A	A	159558199	G	A	159558199	3	1	65	1	0	0	0	0	1	0	0	0	767	1291	45	1	379	1	APCS	1	159558199	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	3431864	159558199	89692422	10	9962										
NOL10	79954	genome.wustl.edu	37	chr2	10729803	10729803	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agaagcctaaattcttcactCtcttcatctacttggaagtc	5	11	5	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:10729803C>T	ENST00000381685.5	-	18	1602	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Silent_p.E449E|NOL10_ENST00000538384.1_Silent_p.E473E|NOL10_ENST00000345985.3_Silent_p.E449E	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	499						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ATTCTTCACTCTCTTCATCTA	0.348																																																	0													60	55	57					2																	10729803		2201	4294	6495	SO:0001819	synonymous_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1497G>A	2.37:g.10729803C>T			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E499	ENST00000381685.5	37	c.1497	CCDS1673.2	2																																																																																			NOL10	-	pfam_NUC153		0.348	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	C	NM_024894		10729803	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10729803	C	T	10729803	2	4	65	1	0	0	0	0	0	0	0	1	10544	912	32	1		1	NOL10	2	10729803	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		10729803	232469570	11	9963										
SMC6	79677	genome.wustl.edu	37	chr2	17897485	17897485	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	atctttcaattctttcagttGcctctgattgtagctcagtg	7	9	6	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:17897485G>A	ENST00000448223.2	-	15	1662	c.1393C>T	c.(1393-1395)Caa>Taa	p.Q465*	SMC6_ENST00000351948.4_Nonsense_Mutation_p.Q465*|SMC6_ENST00000381272.4_Nonsense_Mutation_p.Q491*|SMC6_ENST00000402989.1_Nonsense_Mutation_p.Q465*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	465	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTTCAGTTGCCTCTGATTG	0.358																																																	0													154	155	154					2																	17897485		2203	4300	6503	SO:0001587	stop_gained	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1393C>T	2.37:g.17897485G>A	ENSP00000404092:p.Gln465*		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Nonsense_Mutation	SNP	NULL	p.Q491*	ENST00000448223.2	37	c.1471	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.296224	0.98192	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	.	.	.	5.62	5.62	0.85841	.	0.418838	0.29314	N	0.012509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.6717	0.95914	0.0:0.0:1.0:0.0	.	.	.	.	X	465;465;491;465;491	.	ENSP00000323439:Q465X	Q	-	1	0	SMC6	17760966	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.847000	0.55895	2.649000	0.89929	0.555000	0.69702	CAA	SMC6	-	NULL		0.358	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	G	NM_024624		17897485	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	nonsense	SNP	0.992	A	A	17897485	G	A	17897485	4	1	65	1	0	0	0	0	0	1	0	0	14817	1328	46	4	1938	4	SMC6	2	17897485	Nonsense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	7167682	17897485	225301888	12	9964										
KDM3A	55818	genome.wustl.edu	37	chr2	86718287	86718287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cataacttatatagctgcatCaaagtggctgaagattttgt	8	6	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:86718287C>G	ENST00000409556.1	+	26	4139	c.3774C>G	c.(3772-3774)atC>atG	p.I1258M	KDM3A_ENST00000542128.1_Missense_Mutation_p.I1206M|KDM3A_ENST00000409064.1_Missense_Mutation_p.I1258M|KDM3A_ENST00000312912.5_Missense_Mutation_p.I1258M			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1258	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATAGCTGCATCAAAGTGGCTG	0.353																																					NSCLC(96;1150 1523 6936 46253 49736)												0													138	137	137					2																	86718287		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3774C>G	2.37:g.86718287C>G	ENSP00000386660:p.Ile1258Met		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I1258M	ENST00000409556.1	37	c.3774	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118688	0.56505	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.89	4.0	0.46444	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.933302	0.08903	N	0.876954	T	0.82167	0.4978	M	0.77486	2.375	0.51482	D	0.999926	D;D	0.76494	0.999;0.997	D;D	0.97110	1.0;0.976	T	0.79569	-0.1749	10	0.72032	D	0.01	.	5.4694	0.16662	0.0:0.734:0.0:0.266	.	1206;1258	F5H070;Q9Y4C1	.;KDM3A_HUMAN	M	1258;1258;1258;1258;1206	ENSP00000386660:I1258M;ENSP00000323659:I1258M;ENSP00000386516:I1258M;ENSP00000438324:I1206M	ENSP00000323659:I1258M	I	+	3	3	KDM3A	86571798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.877000	0.39598	2.427000	0.82271	0.655000	0.94253	ATC	KDM3A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.353	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	C	NM_018433		86718287	1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86718287	C	G	86718287	3	3	65	1	0	0	0	0	1	0	0	0	8146	816	29	1	3868	1	KDM3A	2	86718287	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	68820802	86718287	156481086	13	9965										
EIF5B	9669	genome.wustl.edu	37	chr2	100011189	100011189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tttaaccttttaggtatgcaGtaattttggccttcgatgtg	9	6	0	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:100011189G>A	ENST00000289371.6	+	21	3299	c.3097G>A	c.(3097-3099)Gta>Ata	p.V1033I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1033					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGGTATGCAGTAATTTTGGC	0.328																																					Colon(162;2388 2567 2705 3444)												0													156	138	144					2																	100011189		1849	4099	5948	SO:0001583	missense	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3097G>A	2.37:g.100011189G>A	ENSP00000289371:p.Val1033Ile		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.V1033I	ENST00000289371.6	37	c.3097	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150903	0.78001	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.7	5.7	0.88788	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.51873	0.1700	L	0.33710	1.025	0.80722	D	1	P	0.47191	0.891	P	0.58013	0.831	T	0.34030	-0.9845	8	.	.	.	-23.7505	19.8424	0.96695	0.0:0.0:1.0:0.0	.	1033	O60841	IF2P_HUMAN	I	1033	ENSP00000289371:V1033I	.	V	+	1	0	EIF5B	99377621	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	GTA	EIF5B	-	pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3		0.328	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	G	NM_015904		100011189	1	no_errors	ENST00000289371	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100011189	G	A	100011189	3	1	65	1	0	0	0	0	1	0	0	0	5056	1029	36	4	3179	4	EIF5B	2	100011189	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	13292902	100011189	143188184	14	9966										
CLASP1	23332	genome.wustl.edu	37	chr2	122139867	122139867	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gaaaagggaggtgggtgcttCgctaacccgtcggcactcca	14	11	0	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:122139867C>T	ENST00000263710.4	-	33	3797	c.3408G>A	c.(3406-3408)gcG>gcA	p.A1136A	CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000397587.3_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1136					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)			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)					GTGGGTGCTTCGCTAACCCGT	0.542																																																	0													68	78	75					2																	122139867		1985	4140	6125	SO:0001819	synonymous_variant	23332			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.3408G>A	2.37:g.122139867C>T			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A1136	ENST00000263710.4	37	c.3408		2																																																																																			CLASP1	-	superfamily_ARM-type_fold		0.542	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122139867	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	silent	SNP	1.000	T	T	122139867	C	T	122139867	2	4	65	1	0	0	0	0	0	0	0	1	3459	871	31	1		1	CLASP1	2	122139867	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	22128678	122139867	121059506	15	9967										
SAP130	79595	genome.wustl.edu	37	chr2	128747378	128747378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctgcatggggtttaggtggaCggtagacgctaccccaacac	13	11	0	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:128747378C>T	ENST00000259235.3	-	13	1747	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	SAP130_ENST00000357702.5_Missense_Mutation_p.V540I|SAP130_ENST00000259234.6_Missense_Mutation_p.V514I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	540					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTAGGTGGACGGTAGACGCT	0.507																																																	0													103	85	91					2																	128747378		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1618G>A	2.37:g.128747378C>T	ENSP00000259235:p.Val540Ile		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.V540I	ENST00000259235.3	37	c.1618	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001068	0.35320	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.14	5.14	0.70334	.	0.118799	0.56097	D	0.000028	T	0.59932	0.2230	L	0.32530	0.975	0.53005	D	0.999965	D;P;D;P;P	0.64830	0.994;0.947;0.958;0.912;0.899	P;B;B;B;B	0.53518	0.728;0.406;0.351;0.437;0.268	T	0.56908	-0.7901	9	0.30078	T	0.28	-20.1351	18.6187	0.91313	0.0:1.0:0.0:0.0	.	540;513;540;70;178	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	I	540;540;514	.	ENSP00000259234:V514I	V	-	1	0	SAP130	128463848	1.000000	0.71417	0.981000	0.43875	0.080000	0.17528	4.322000	0.59215	2.369000	0.80426	0.655000	0.94253	GTC	SAP130	-	NULL		0.507	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	C	NM_024545		128747378	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128747378	C	T	128747378	3	4	65	1	0	0	0	0	1	0	0	0	13861	536	19	2	1669	2	SAP130	2	128747378	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	6607511	128747378	114451995	16	9968										
XIRP2	129446	genome.wustl.edu	37	chr2	168115287	168115287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gagtgaagcaaatgacactgCaaatgaatatgaaattgaga	10	4	0	5			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:168115287C>A	ENST00000409728.1	+	11	2419	c.2330C>A	c.(2329-2331)gCa>gAa	p.A777E	XIRP2_ENST00000409605.1_Missense_Mutation_p.A522E|XIRP2_ENST00000409043.1_Missense_Mutation_p.A744E|XIRP2_ENST00000409756.2_Missense_Mutation_p.A744E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.A777E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATGACACTGCAAATGAATAT	0.323																																																	0													46	46	46					2																	168115287		1826	4074	5900	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2330C>A	2.37:g.168115287C>A	ENSP00000386619:p.Ala777Glu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A777E	ENST00000409728.1	37	c.2330	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475761	0.26511	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80909	-1.4;-1.41;-1.4;-1.41;-1.43	5.67	4.74	0.60224	.	.	.	.	.	T	0.79793	0.4507	.	.	.	0.52501	D	0.999959	P;P	0.52316	0.952;0.952	P;P	0.49301	0.606;0.606	T	0.77341	-0.2624	8	0.33940	T	0.23	.	11.0427	0.47840	0.1425:0.7199:0.1376:0.0	.	744;777	A4UGR9-4;A4UGR9-6	.;.	E	744;777;744;777;522	ENSP00000386454:A744E;ENSP00000386619:A777E;ENSP00000386724:A744E;ENSP00000415541:A777E;ENSP00000386981:A522E	ENSP00000386454:A744E	A	+	2	0	XIRP2	167823533	0.007000	0.16637	0.997000	0.53966	0.424000	0.31475	0.408000	0.21065	2.681000	0.91329	0.561000	0.74099	GCA	XIRP2	-	NULL		0.323	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	C	NM_152381		168115287	1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.568	A	A	168115287	C	A	168115287	3	1	65	1	0	0	0	0	1	0	0	0	17461	710	25	4	11648	4	XIRP2	2	168115287	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	39367909	168115287	75084086	17	9969										
TTN	7273	genome.wustl.edu	37	chr2	179456782	179456782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	actggttctccgcagctactCggaagaggtactggttgcct	12	11	1	1	rs374914334		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:179456782C>T	ENST00000591111.1	-	252	55150	c.54926G>A	c.(54925-54927)cGa>cAa	p.R18309Q	TTN_ENST00000342175.6_Missense_Mutation_p.R11077Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17382Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11010Q|TTN_ENST00000589042.1_Missense_Mutation_p.R19950Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10885Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18309	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCAGCTACTCGGAAGAGGTA	0.473																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,3809		0,3,1903	76	74	74		32654,52145,33029,33230	6	1	2		74	0,8260		0,0,4130	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,3,6033	TT,TC,CC		0.0,0.0787,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	10885/26927,17382/33424,11010/27052,11077/27119	179456782	3,12069	1906	4130	6036	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54926G>A	2.37:g.179456782C>T	ENSP00000465570:p.Arg18309Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R17382Q	ENST00000591111.1	37	c.52145		2	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522178	0.44866	7.87E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79587	0.4471	M	0.83312	2.635	0.53005	D	0.999964	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.70227	0.943;0.943;0.943;0.968	T	0.80723	-0.1255	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10885;11010;11077;18309	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17382;10885;11077;11010;10883	ENSP00000343764:R17382Q;ENSP00000434586:R10885Q;ENSP00000340554:R11077Q;ENSP00000352154:R11010Q	ENSP00000340554:R11077Q	R	-	2	0	TTN	179165028	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.954000	0.70298	2.868000	0.98415	0.557000	0.71058	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179456782	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179456782	C	T	179456782	3	4	65	1	0	0	0	0	1	0	0	0	16766	884	31	1	48374	1	TTN	2	179456782	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	11341495	179456782	63742591	18	9970										
ZNF804A	91752	genome.wustl.edu	37	chr2	185800685	185800685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ccactgttgctgaagatccaGaaagtgcaaataattataca	7	8	0	3			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:185800685G>A	ENST00000302277.6	+	4	1156	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	188							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAGATCCAGAAAGTGCAAA	0.358																																																	0													65	68	67					2																	185800685		2203	4300	6503	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.562G>A	2.37:g.185800685G>A	ENSP00000303252:p.Glu188Lys		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E188K	ENST00000302277.6	37	c.562	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206515	0.58343	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.52	4.62	0.57501	.	0.424440	0.22272	N	0.062248	T	0.08179	0.0204	L	0.45581	1.43	0.31150	N	0.705581	P	0.39282	0.666	B	0.35859	0.212	T	0.01904	-1.1250	10	0.54805	T	0.06	-11.1949	15.3091	0.74016	0.0:0.1404:0.8596:0.0	.	188	Q7Z570	Z804A_HUMAN	K	188	ENSP00000303252:E188K	ENSP00000303252:E188K	E	+	1	0	ZNF804A	185508930	1.000000	0.71417	0.628000	0.29241	0.690000	0.40134	6.734000	0.74801	1.283000	0.44513	0.467000	0.42956	GAA	ZNF804A	-	NULL		0.358	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	G	NM_194250		185800685	1	no_errors	ENST00000302277	ensembl	human	known	70_37	missense	SNP	0.997	A	A	185800685	G	A	185800685	3	1	65	1	0	0	0	0	1	0	0	0	18200	943	33	1	576	1	ZNF804A	2	185800685	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	6343903	185800685	57398688	19	9971										
ALS2CR12	130540	genome.wustl.edu	37	chr2	202211365	202211365	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aatctgttcccgattccgaaCaagttgatagccaggtgaca	9	10	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:202211365C>G	ENST00000286190.5	-	4	314	c.268G>C	c.(268-270)Gtt>Ctt	p.V90L	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.V90L|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.V90L|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.V90L|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	90					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CGATTCCGAACAAGTTGATAG	0.453																																																	0													149	126	134					2																	202211365		2203	4300	6503	SO:0001583	missense	130540			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.268G>C	2.37:g.202211365C>G	ENSP00000286190:p.Val90Leu		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.V90L	ENST00000286190.5	37	c.268	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	C	5.847	0.340451	0.11069	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000425488	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.74	-9.48	0.00591	.	2.088610	0.01852	N	0.036009	T	0.24661	0.0598	L	0.29908	0.895	0.09310	N	1	B;B	0.20780	0.048;0.048	B;B	0.18561	0.022;0.022	T	0.06698	-1.0812	10	0.25106	T	0.35	1.9717	5.3768	0.16170	0.3833:0.3862:0.0:0.2305	.	90;90	Q96Q35;G5E9S3	AL2SB_HUMAN;.	L	90;90;90;90;28	ENSP00000286190:V90L;ENSP00000385098:V90L;ENSP00000376086:V90L;ENSP00000412073:V90L	ENSP00000286190:V90L	V	-	1	0	ALS2CR12	201919610	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-3.992000	0.00318	-2.353000	0.00615	-1.047000	0.02352	GTT	ALS2CR12	-	NULL		0.453	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	C	NM_139163		202211365	-1	no_errors	ENST00000286190	ensembl	human	known	70_37	missense	SNP	0.000	G	G	202211365	C	G	202211365	3	3	65	1	0	0	0	0	1	0	0	0	553	478	17	4	1113	4	ALS2CR12	2	202211365	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	16410680	202211365	40988008	20	9972										
GBX2	2637	genome.wustl.edu	37	chr2	237076492	237076492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	atgaacatggggtagccggtGtagacgaaatggccggggct	17	7	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:237076492G>A	ENST00000306318.4	-	1	520	c.123C>T	c.(121-123)taC>taT	p.Y41Y	AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_Silent_p.Y41Y|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	41					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGTAGCCGGTGTAGACGAAAT	0.726																																																	0													7	8	8					2																	237076492		2127	4184	6311	SO:0001819	synonymous_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.123C>T	2.37:g.237076492G>A			B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Y41	ENST00000306318.4	37	c.123	CCDS2515.1	2																																																																																			GBX2	-	NULL		0.726	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	G	NM_001485		237076492	-1	no_errors	ENST00000306318	ensembl	human	known	70_37	silent	SNP	1.000	A	A	237076492	G	A	237076492	2	1	65	1	0	0	0	0	0	0	0	1	6300	1372	48	4		4	GBX2	2	237076492	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	34865127	237076492	6122881	21	9973										
SETD5	55209	genome.wustl.edu	37	chr3	9515122	9515122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tcacaaaaaattctccccatCtcattcctctatgtcccatt	1	15	4	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:9515122C>T	ENST00000406341.1	+	19	3588	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	SETD5_ENST00000402466.1_Missense_Mutation_p.S1035F|SETD5_ENST00000302463.6_Missense_Mutation_p.S1035F|SETD5_ENST00000407969.1_Missense_Mutation_p.S1152F|SETD5_ENST00000402198.1_Missense_Mutation_p.S1133F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1133	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCTCCCCATCTCATTCCTCT	0.527																																																	0													83	83	83					3																	9515122		1936	4143	6079	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3398C>T	3.37:g.9515122C>T	ENSP00000383939:p.Ser1133Phe		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S1133F	ENST00000406341.1	37	c.3398	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849893	0.91277	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.76;-3.08;-2.76;-2.74;-3.08	6.07	6.07	0.98685	.	0.179711	0.49916	D	0.000129	D	0.93426	0.7903	N	0.24115	0.695	0.40231	D	0.977849	D;D;P	0.76494	0.999;0.998;0.61	D;D;B	0.71184	0.972;0.93;0.332	D	0.94000	0.7274	10	0.66056	D	0.02	-7.4931	20.6525	0.99598	0.0:1.0:0.0:0.0	.	802;1035;1133	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	F	1133;1035;1133;1152;1035	ENSP00000385852:S1133F;ENSP00000384429:S1035F;ENSP00000383939:S1133F;ENSP00000384114:S1152F;ENSP00000302028:S1035F	ENSP00000302028:S1035F	S	+	2	0	SETD5	9490122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.453000	0.52978	2.890000	0.99128	0.585000	0.79938	TCT	SETD5	-	NULL		0.527	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	C	XM_371614		9515122	1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9515122	C	T	9515122	3	4	65	1	0	0	0	0	1	0	0	0	14164	913	32	1	3468	1	SETD5	3	9515122	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		9515122	188507308	22	9974										
TGFBR2	7048	genome.wustl.edu	37	chr3	30715678	30715678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttgagtccttcaagcagaccGatgtctactccatggctctg	9	12	3	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:30715678G>A	ENST00000295754.5	+	5	1718	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D471N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in LDS2). {ECO:0000269|PubMed:16251899}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.D446N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGCAGACCGATGTCTACTC	0.473																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	GRCh37	CM060085|CM086981	TGFBR2	M							158	136	143					3																	30715678		2203	4300	6503	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1336G>A	3.37:g.30715678G>A	ENSP00000295754:p.Asp446Asn		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.D471N	ENST00000295754.5	37	c.1411	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.893827	0.97074	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99394	-5.82;-5.82	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	446;471	P37173;D2JYI1	TGFR2_HUMAN;.	N	446;471;276	ENSP00000295754:D446N;ENSP00000351905:D471N	ENSP00000295754:D446N	D	+	1	0	TGFBR2	30690682	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAT	TGFBR2	-	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,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	G			30715678	1	no_errors	ENST00000359013	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30715678	G	A	30715678	3	1	65	1	0	0	0	0	1	0	0	0	15852	1058	37	1	1433	1	TGFBR2	3	30715678	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	21200556	30715678	167306752	23	9975										
MAP4	4134	genome.wustl.edu	37	chr3	47958076	47958076	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cctgtgccacctctatttctGagagtaataccaaatccttg	6	12	2	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:47958076G>A	ENST00000360240.6	-	7	1759	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	MAP4_ENST00000395734.3_Missense_Mutation_p.S414L|MAP4_ENST00000426837.2_Missense_Mutation_p.S431L|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	414	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCTATTTCTGAGAGTAATAC	0.468																																																	0													136	126	129					3																	47958076		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1241C>T	3.37:g.47958076G>A	ENSP00000353375:p.Ser414Leu		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.S414L	ENST00000360240.6	37	c.1241	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931160	0.52866	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.08370	3.16;3.1;3.16	4.73	4.73	0.59995	.	.	.	.	.	T	0.27454	0.0674	M	0.68952	2.095	0.43745	D	0.996244	D;P;D	0.89917	1.0;0.897;0.983	D;P;P	0.85130	0.997;0.518;0.656	T	0.00567	-1.1667	9	0.72032	D	0.01	-1.0926	15.5879	0.76499	0.0:0.0:1.0:0.0	.	391;414;414	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	L	414;431;414	ENSP00000379083:S414L;ENSP00000407602:S431L;ENSP00000353375:S414L	ENSP00000353375:S414L	S	-	2	0	MAP4	47933080	0.589000	0.26807	0.333000	0.25482	0.047000	0.14425	1.909000	0.39917	2.607000	0.88179	0.561000	0.74099	TCA	MAP4	-	NULL		0.468	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	G	NM_002375		47958076	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	missense	SNP	0.153	A	A	47958076	G	A	47958076	3	1	65	1	0	0	0	0	1	0	0	0	9281	1294	45	1	3628	1	MAP4	3	47958076	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	17242398	47958076	150064354	24	9976										
C3orf26	84319	genome.wustl.edu	37	chr3	99879313	99879313	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tacaaccaaaggaaagaaaaGagaataccaccaagaccagg	8	9	0	3			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:99879313G>A	ENST00000421999.2	+	3	339	c.193G>A	c.(193-195)Gag>Aag	p.E65K	CMSS1_ENST00000489081.1_Missense_Mutation_p.E47K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	65							poly(A) RNA binding (GO:0044822)										GGAAAGAAAAGAGAATACCAC	0.294																																																	0													42	44	43					3																	99879313		2196	4295	6491	SO:0001583	missense	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.193G>A	3.37:g.99879313G>A	ENSP00000410396:p.Glu65Lys		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.E65K	ENST00000421999.2	37	c.193	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731183	0.30684	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.28454	1.61;1.61;1.61	5.74	1.83	0.25207	.	0.678852	0.15707	N	0.248637	T	0.21921	0.0528	L	0.47716	1.5	0.09310	N	1	P	0.43231	0.801	B	0.37780	0.258	T	0.09862	-1.0655	9	.	.	.	.	5.3311	0.15932	0.2468:0.1468:0.6064:0.0	.	65	Q9BQ75	CC026_HUMAN	K	65;47;21	ENSP00000410396:E65K;ENSP00000419161:E47K;ENSP00000417293:E21K	.	E	+	1	0	C3orf26	101362003	0.638000	0.27225	0.000000	0.03702	0.393000	0.30537	2.318000	0.43779	0.049000	0.15920	0.563000	0.77884	GAG	CMSS1	-	NULL		0.294	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359		99879313	1	no_errors	ENST00000421999	ensembl	human	known	70_37	missense	SNP	0.000	A	A	99879313	G	A	99879313	3	1	65	1	0	0	0	0	1	0	0	0	2223	943	33	1	217	1	C3orf26	3	99879313	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	51921237	99879313	98143117	25	9977										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119099772	119099772	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aggcagtgtcgcattgccctGaagaaggccaactggcccga	13	12	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:119099772G>A	ENST00000264245.4	+	4	902	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	124	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCATTGCCCTGAAGAAGGCCA	0.522																																					Pancreas(7;176 297 5394 51128 51241)												0													87	91	90					3																	119099772		2069	4216	6285	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.370G>A	3.37:g.119099772G>A	ENSP00000264245:p.Glu124Lys		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E124K	ENST00000264245.4	37	c.370	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228972	0.79688	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.19250	2.16;2.16	5.38	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.30448	0.0765	L	0.49256	1.55	0.58432	D	0.999996	P	0.37233	0.588	P	0.48189	0.57	T	0.06162	-1.0842	10	0.66056	D	0.02	.	11.5677	0.50815	0.081:0.0:0.919:0.0	.	124	Q2M1Z3	RHG31_HUMAN	K	124;124;95	ENSP00000264245:E124K;ENSP00000418429:E95K	ENSP00000264245:E124K	E	+	1	0	ARHGAP31	120582462	1.000000	0.71417	0.898000	0.35279	0.794000	0.44872	8.550000	0.90675	1.509000	0.48786	-0.136000	0.14681	GAA	ARHGAP31	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119099772	1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.996	A	A	119099772	G	A	119099772	3	1	65	1	0	0	0	0	1	0	0	0	880	1291	45	1	384	1	ARHGAP31	3	119099772	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	19220459	119099772	78922658	26	9978										
CCDC37	348807	genome.wustl.edu	37	chr3	126151924	126151924	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tcttccagggacagggaggtCaaccagctgaagcagtgggt	15	9	2	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:126151924C>T	ENST00000352312.1	+	14	1398	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	CCDC37_ENST00000505024.1_Silent_p.V434V|CCDC37_ENST00000393425.1_Silent_p.V434V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	433										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAGGGAGGTCAACCAGCTGA	0.572																																																	0													87	75	79					3																	126151924		2203	4300	6503	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1299C>T	3.37:g.126151924C>T			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.V434	ENST00000352312.1	37	c.1302	CCDS3037.1	3																																																																																			CCDC37	-	superfamily_SuperAg_toxin_C_Staph/Strep		0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	C	NM_182628		126151924	1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	0.973	T	T	126151924	C	T	126151924	2	4	65	1	0	0	0	0	0	0	0	1	2814	813	29	1		1	CCDC37	3	126151924	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	7052152	126151924	71870506	27	9979										
MED12L	116931	genome.wustl.edu	37	chr3	150883767	150883767	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	accaaaacaaagataaccaaGaggtagttaattttttttta	5	5	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:150883767G>C	ENST00000474524.1	+	10	1530	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	MED12L_ENST00000309237.4_Missense_Mutation_p.E498Q|MED12L_ENST00000273432.4_Missense_Mutation_p.E358Q|MED12L_ENST00000422248.2_Missense_Mutation_p.E498Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	498						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGATAACCAAGAGGTAGTTAA	0.333																																																	0													70	69	69					3																	150883767		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1492G>C	3.37:g.150883767G>C	ENSP00000417235:p.Glu498Gln		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.E498Q	ENST00000474524.1	37	c.1492	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171924	0.78452	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.69	5.69	0.88448	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.128450	0.56097	D	0.000035	T	0.60843	0.2300	M	0.81239	2.535	0.54753	D	0.999988	P;D;D;P	0.69078	0.729;0.997;0.996;0.873	B;D;D;B	0.81914	0.32;0.995;0.991;0.385	T	0.64351	-0.6428	10	0.87932	D	0	-28.5046	19.4185	0.94710	0.0:0.0:1.0:0.0	.	358;498;498;498	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	Q	498;498;498;358	ENSP00000403308:E498Q;ENSP00000310760:E498Q;ENSP00000417235:E498Q;ENSP00000273432:E358Q	ENSP00000273432:E358Q	E	+	1	0	MED12L	152366457	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.625000	0.90965	2.674000	0.91012	0.650000	0.86243	GAG	MED12L	-	pfam_Mediator_Med12_LCEWAV		0.333	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	G	NM_053002		150883767	1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150883767	G	C	150883767	3	2	65	1	0	0	0	0	1	0	0	0	9452	943	33	1	1530	1	MED12L	3	150883767	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	24731843	150883767	47138663	28	9980										
GPR149	344758	genome.wustl.edu	37	chr3	154139158	154139158	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gtagtttcacactcagagttCatcaggttgtgatagaatat	9	6	4	3	rs566323770		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:154139158C>T	ENST00000389740.2	-	3	1392	c.1293G>A	c.(1291-1293)atG>atA	p.M431I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	431					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACTCAGAGTTCATCAGGTTGT	0.358																																																	0													131	123	125					3																	154139158		1856	4103	5959	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1293G>A	3.37:g.154139158C>T	ENSP00000374390:p.Met431Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M431I	ENST00000389740.2	37	c.1293	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065545	0.20067	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.8	3.85	0.44370	.	0.364441	0.35525	N	0.003144	T	0.28466	0.0704	L	0.35414	1.06	0.21325	N	0.999726	B	0.06786	0.001	B	0.04013	0.001	T	0.07986	-1.0744	9	0.21014	T	0.42	-4.8095	9.7492	0.40466	0.1563:0.6922:0.1514:0.0	.	431	Q86SP6	GP149_HUMAN	I	431	.	ENSP00000374390:M431I	M	-	3	0	GPR149	155621852	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.614000	0.36911	2.398000	0.81561	0.454000	0.30748	ATG	GPR149	-	NULL		0.358	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	C	XM_293580		154139158	-1	no_errors	ENST00000389740	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154139158	C	T	154139158	3	4	65	1	0	0	0	0	1	0	0	0	6673	826	29	1	910	1	GPR149	3	154139158	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	3255391	154139158	43883272	29	9981										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	65	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	24796933	178936091	19086339	30	9982										
PCYT1A	5130	genome.wustl.edu	37	chr3	195965567	195965567	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agggaggaaacattagtcttCttcatcctcactgatatcat	7	9	5	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:195965567C>T	ENST00000292823.2	-	10	1268	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	PCYT1A_ENST00000431016.1_Missense_Mutation_p.E366K|PCYT1A_ENST00000419333.1_Intron	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	366					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CATTAGTCTTCTTCATCCTCA	0.502																																																	0													127	123	124					3																	195965567		2203	4300	6503	SO:0001583	missense	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1096G>A	3.37:g.195965567C>T	ENSP00000292823:p.Glu366Lys		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like	p.E366K	ENST00000292823.2	37	c.1096	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792283	0.90453	.	.	ENSG00000161217	ENST00000292823;ENST00000416798;ENST00000431016	.	.	.	6.17	6.17	0.99709	.	0.192107	0.56097	D	0.000033	T	0.77123	0.4084	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.73972	-0.3814	9	0.46703	T	0.11	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	366	P49585	PCY1A_HUMAN	K	366;327;366	.	ENSP00000292823:E366K	E	-	1	0	PCYT1A	197449964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.456000	0.80751	2.941000	0.99782	0.655000	0.94253	GAA	PCYT1A	-	NULL		0.502	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	C	NM_005017		195965567	-1	no_errors	ENST00000292823	ensembl	human	known	70_37	missense	SNP	1.000	T	T	195965567	C	T	195965567	3	4	65	1	0	0	0	0	1	0	0	0	11634	922	32	1	11	1	PCYT1A	3	195965567	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	17029476	195965567	2056863	31	9983										
LPHN3	23284	genome.wustl.edu	37	chr4	62599062	62599062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tggtcaaatctgtatatgagGatgatgacaatgaggctact	11	5	2	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr4:62599062G>A	ENST00000514591.1	+	7	1314	c.985G>A	c.(985-987)Gat>Aat	p.D329N	LPHN3_ENST00000545650.1_Missense_Mutation_p.D329N|LPHN3_ENST00000509896.1_Missense_Mutation_p.D397N|LPHN3_ENST00000514157.1_Missense_Mutation_p.D329N|LPHN3_ENST00000508946.1_Missense_Mutation_p.D329N|LPHN3_ENST00000507164.1_Missense_Mutation_p.D397N|LPHN3_ENST00000508693.1_Missense_Mutation_p.D397N|LPHN3_ENST00000506700.1_Missense_Mutation_p.D329N|LPHN3_ENST00000507625.1_Missense_Mutation_p.D397N|LPHN3_ENST00000511324.1_Missense_Mutation_p.D397N|LPHN3_ENST00000512091.2_Missense_Mutation_p.D329N|LPHN3_ENST00000506746.1_Missense_Mutation_p.D397N|LPHN3_ENST00000506720.1_Missense_Mutation_p.D397N|LPHN3_ENST00000504896.1_Missense_Mutation_p.D329N|LPHN3_ENST00000514996.1_Missense_Mutation_p.D329N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	329	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTATATGAGGATGATGACAA	0.388																																																	0													114	102	106					4																	62599062		1938	4140	6078	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.985G>A	4.37:g.62599062G>A	ENSP00000422533:p.Asp329Asn		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D397N	ENST00000514591.1	37	c.1189	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246265	0.80024	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.85130	0.997;0.997;0.987	D	0.96133	0.9094	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	329;397;329	E9PE04;E7EN28;Q9HAR2-2	.;.;.	N	329;329;397;397;329;329;329;329;329;397;397;397;329;329;329;397;397;329	ENSP00000423388:D329N;ENSP00000422533:D329N;ENSP00000423787:D397N;ENSP00000425033:D397N;ENSP00000424120:D329N;ENSP00000439831:D329N;ENSP00000421476:D397N;ENSP00000424030:D397N;ENSP00000421372:D397N;ENSP00000425201:D329N;ENSP00000423434:D329N;ENSP00000421627:D329N;ENSP00000420931:D397N;ENSP00000425884:D397N;ENSP00000424258:D329N	ENSP00000280009:D329N	D	+	1	0	LPHN3	62281657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.471000	0.83476	0.557000	0.71058	GAT	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62599062	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62599062	G	A	62599062	3	1	65	1	0	0	0	0	1	0	0	0	8940	1174	41	1	1003	1	LPHN3	4	62599062	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		62599062	128555214	32	9984										
ADH4	127	genome.wustl.edu	37	chr4	100048484	100048484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cagcctgcggttgtacagtcCagggctgctttctgtgatgg	14	10	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr4:100048484C>T	ENST00000265512.7	-	7	929	c.855G>A	c.(853-855)ctG>ctA	p.L285L	ADH4_ENST00000508393.1_Silent_p.L304L|ADH4_ENST00000423445.1_Silent_p.L304L|ADH4_ENST00000505590.1_Silent_p.L304L|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	285					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTGTACAGTCCAGGGCTGCTT	0.423																																																	0													68	67	68					4																	100048484		2203	4300	6503	SO:0001819	synonymous_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.855G>A	4.37:g.100048484C>T			A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.L304	ENST00000265512.7	37	c.912	CCDS34032.1	4																																																																																			ADH4	-	pfam_ADH_C,smart_PKS_ER		0.423	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	C	NM_000670		100048484	-1	no_errors	ENST00000423445	ensembl	human	known	70_37	silent	SNP	0.930	T	T	100048484	C	T	100048484	2	4	65	1	0	0	0	0	0	0	0	1	310	581	21	4		4	ADH4	4	100048484	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	37449422	100048484	91105792	33	9985										
IRX1	79192	genome.wustl.edu	37	chr5	3599344	3599344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gccctgtggcttcagggctcGcagtatgaactgaaggacaa	13	10	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:3599344G>A	ENST00000302006.3	+	2	334	c.282G>A	c.(280-282)tcG>tcA	p.S94S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	94					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S94S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCAGGGCTCGCAGTATGAAC	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)											27	29	28					5																	3599344		2203	4299	6502	SO:0001819	synonymous_variant	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.282G>A	5.37:g.3599344G>A			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.S94	ENST00000302006.3	37	c.282	CCDS34132.1	5																																																																																			IRX1	-	NULL		0.607	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	G	NM_024337		3599344	1	no_errors	ENST00000302006	ensembl	human	known	70_37	silent	SNP	0.030	A	A	3599344	G	A	3599344	2	1	65	1	0	0	0	0	0	0	0	1	7863	1074	38	2		2	IRX1	5	3599344	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		3599344	177315916	34	9986										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5239840	5239840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tctggagcccggagtatccgCatctatgaaatgaacgtctc	10	11	3	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:5239840C>T	ENST00000274181.7	+	16	2463	c.2325C>T	c.(2323-2325)cgC>cgT	p.R775R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	775	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAGTATCCGCATCTATGAAA	0.502																																																	0													155	145	148					5																	5239840		1888	4112	6000	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2325C>T	5.37:g.5239840C>T			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R775	ENST00000274181.7	37	c.2325	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_ADAM_spacer1		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5239840	1	no_errors	ENST00000274181	ensembl	human	known	70_37	silent	SNP	0.060	T	T	5239840	C	T	5239840	2	4	65	1	0	0	0	0	0	0	0	1	261	697	25	4		4	ADAMTS16	5	5239840	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	1640496	5239840	175675420	35	9987										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41069835	41069835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttcagcatgccaagagtgagGttaatatccccaaacatctc	7	11	2	2	rs562749956		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:41069835G>T	ENST00000399564.4	-	2	498	c.48C>A	c.(46-48)aaC>aaA	p.N16K		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	16																	CAAGAGTGAGGTTAATATCCC	0.333																																																	0													66	64	65					5																	41069835		1830	4083	5913	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.48C>A	5.37:g.41069835G>T	ENSP00000382476:p.Asn16Lys		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N16K	ENST00000399564.4	37	c.48	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739360	0.49045	.	.	ENSG00000171495	ENST00000399564	T	0.01192	5.2	6.16	2.51	0.30379	.	0.000000	0.56097	D	0.000038	T	0.01454	0.0047	N	0.14661	0.345	0.26539	N	0.974111	D	0.55605	0.972	P	0.53360	0.724	T	0.52503	-0.8567	10	0.48119	T	0.1	.	8.4533	0.32884	0.3037:0.0:0.6963:0.0	.	16	Q7Z745	HTRB2_HUMAN	K	16	ENSP00000382476:N16K	ENSP00000382476:N16K	N	-	3	2	HEATR7B2	41105592	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	0.378000	0.20569	0.192000	0.20272	-0.143000	0.13931	AAC	HEATR7B2	-	NULL		0.333	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41069835	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41069835	G	T	41069835	3	4	65	1	0	0	0	0	1	0	0	0	7055	1252	44	4	4873	4	HEATR7B2	5	41069835	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	35829995	41069835	139845425	36	9988										
TGFBI	7045	genome.wustl.edu	37	chr5	135382984	135382984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttgtaactgtgaactgtgccCggctgctgaaagccgaccac	11	12	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:135382984C>T	ENST00000442011.2	+	6	807	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	TGFBI_ENST00000305126.8_Missense_Mutation_p.R216W	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	216	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGCCCGGCTGCTGAA	0.527																																																	0													110	107	108					5																	135382984		2068	4212	6280	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.646C>T	5.37:g.135382984C>T	ENSP00000416330:p.Arg216Trp		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R216W	ENST00000442011.2	37	c.646	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974531	0.74246	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.91521	-2.86;-2.86	6.04	6.04	0.98038	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.95650	0.8706	10	0.87932	D	0	-5.3662	13.4451	0.61136	0.2562:0.7438:0.0:0.0	.	216	Q15582	BGH3_HUMAN	W	216	ENSP00000416330:R216W;ENSP00000306306:R216W	ENSP00000306306:R216W	R	+	1	2	TGFBI	135410883	0.959000	0.32827	0.994000	0.49952	0.854000	0.48673	2.070000	0.41491	2.873000	0.98535	0.561000	0.74099	CGG	TGFBI	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.527	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	C			135382984	1	no_errors	ENST00000305126	ensembl	human	known	70_37	missense	SNP	0.934	T	T	135382984	C	T	135382984	3	4	65	1	0	0	0	0	1	0	0	0	15850	643	23	2	668	2	TGFBI	5	135382984	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	94313149	135382984	45532276	37	9989										
PCDHB3	56132	genome.wustl.edu	37	chr5	140481518	140481518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctatcactgacctggggacaCccaggctgaaaaccaagtac	9	13	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:140481518C>A	ENST00000231130.2	+	1	1285	c.1285C>A	c.(1285-1287)Ccc>Acc	p.P429T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGGACACCCAGGCTGAA	0.522																																																	0													89	85	86					5																	140481518		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1285C>A	5.37:g.140481518C>A	ENSP00000231130:p.Pro429Thr		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P429T	ENST00000231130.2	37	c.1285	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502788	0.44558	.	.	ENSG00000113205	ENST00000231130	T	0.56275	0.47	4.39	4.39	0.52855	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84969	0.5590	H	0.99758	4.755	0.50171	D	0.999851	D	0.89917	1.0	D	0.97110	1.0	D	0.92207	0.5773	9	0.87932	D	0	.	16.0975	0.81135	0.0:1.0:0.0:0.0	.	429	Q9Y5E6	PCDB3_HUMAN	T	429	ENSP00000231130:P429T	ENSP00000231130:P429T	P	+	1	0	PCDHB3	140461702	0.776000	0.28616	0.904000	0.35570	0.053000	0.15095	2.092000	0.41700	2.155000	0.67459	0.655000	0.94253	CCC	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140481518	1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.992	A	A	140481518	C	A	140481518	3	1	65	1	0	0	0	0	1	0	0	0	11567	507	18	4	1287	4	PCDHB3	5	140481518	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	5098534	140481518	40433742	38	9990										
JARID2	3720	genome.wustl.edu	37	chr6	15501191	15501191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ggctgattaatgagatgggcGgcatgcagcaagtgactgac	15	7	0	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:15501191G>A	ENST00000341776.2	+	8	2243	c.1999G>A	c.(1999-2001)Ggc>Agc	p.G667S	JARID2_ENST00000397311.3_Missense_Mutation_p.G495S|JARID2_ENST00000541660.1_Missense_Mutation_p.G629S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	667	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGAGATGGGCGGCATGCAGCA	0.557																																																	0													102	107	105					6																	15501191		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1999G>A	6.37:g.15501191G>A	ENSP00000341280:p.Gly667Ser		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.G667S	ENST00000341776.2	37	c.1999	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.268210	0.95429	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87887	-2.31;-2.31;-2.31	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94181	0.7432	10	0.87932	D	0	-12.4643	18.621	0.91321	0.0:0.0:1.0:0.0	.	629;667	F5H590;Q92833	.;JARD2_HUMAN	S	667;495;629	ENSP00000341280:G667S;ENSP00000380478:G495S;ENSP00000444623:G629S	ENSP00000341280:G667S	G	+	1	0	JARID2	15609170	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.624000	0.98398	2.396000	0.81511	0.561000	0.74099	GGC	JARID2	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.557	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	G	NM_004973		15501191	1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15501191	G	A	15501191	3	1	65	1	0	0	0	0	1	0	0	0	7965	1116	39	2	2029	2	JARID2	6	15501191	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		15501191	155613876	39	9991										
CUL7	9820	genome.wustl.edu	37	chr6	43010606	43010606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ccattttgcagcgccagcaaGaaggctgcccgaggcccaaa	11	14	0	1	rs150591409		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:43010606G>T	ENST00000265348.3	-	19	3664	c.3579C>A	c.(3577-3579)ttC>ttA	p.F1193L	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.F1277L			Q14999	CUL7_HUMAN	cullin 7	1193					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGCCAGCAAGAAGGCTGCCC	0.547																																																	0													45	42	43					6																	43010606		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3579C>A	6.37:g.43010606G>T	ENSP00000265348:p.Phe1193Leu		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.F1277L	ENST00000265348.3	37	c.3831	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280740	0.80692	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.78246	-1.16;-1.16	5.59	2.84	0.33178	Cullin, N-terminal (1);	0.197401	0.53938	N	0.000045	T	0.80149	0.4570	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	T	0.80734	-0.1250	10	0.72032	D	0.01	-13.3784	9.6437	0.39855	0.339:0.0:0.661:0.0	.	1277;1193;1277;1193	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	L	1193;1277	ENSP00000265348:F1193L;ENSP00000438788:F1277L	ENSP00000265348:F1193L	F	-	3	2	CUL7	43118584	0.972000	0.33761	0.995000	0.50966	0.971000	0.66376	1.495000	0.35627	0.302000	0.22762	0.579000	0.79373	TTC	CUL7	-	pfam_Cullin_N		0.547	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43010606	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	0.995	T	T	43010606	G	T	43010606	3	4	65	1	0	0	0	0	1	0	0	0	4065	933	33	3	1549	3	CUL7	6	43010606	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	27509415	43010606	128104461	40	9992										
COL12A1	1303	genome.wustl.edu	37	chr6	75898136	75898136	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	acacctgagcacacctgggaGatgatctcattctgaatatc	8	11	2	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:75898136G>A	ENST00000322507.8	-	8	1248	c.939C>T	c.(937-939)atC>atT	p.I313I	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.I313I|COL12A1_ENST00000483888.2_Silent_p.I313I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	313	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACACCTGGGAGATGATCTCAT	0.423																																																	0													218	198	205					6																	75898136		1967	4162	6129	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.939C>T	6.37:g.75898136G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.I313	ENST00000322507.8	37	c.939	CCDS43482.1	6																																																																																			COL12A1	-	smart_VWF_A,pfscan_VWF_A		0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75898136	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	silent	SNP	0.994	A	A	75898136	G	A	75898136	2	1	65	1	0	0	0	0	0	0	0	1	3674	932	33	1		1	COL12A1	6	75898136	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	32887530	75898136	95216931	41	9993										
KIAA1009	22832	genome.wustl.edu	37	chr6	84913752	84913752	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	attctctttggaaggcatctCttcatctttagtagtcaacg	7	9	5	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:84913752C>A	ENST00000403245.3	-	7	748	c.634G>T	c.(634-636)Gag>Tag	p.E212*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.E136*	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAAGGCATCTCTTCATCTTTA	0.308																																																	0													108	112	111					6																	84913752		2203	4299	6502	SO:0001587	stop_gained	22832																														ENST00000403245.3:c.634G>T	6.37:g.84913752C>A	ENSP00000385215:p.Glu212*			Nonsense_Mutation	SNP	NULL	p.E212*	ENST00000403245.3	37	c.634	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913311	0.72983	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.5	4.64	0.57946	.	0.173907	0.40554	N	0.001063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.0055	11.3455	0.49559	0.0:0.9151:0.0:0.0849	.	.	.	.	X	136;212	.	ENSP00000257766:E136X	E	-	1	0	KIAA1009	84970471	1.000000	0.71417	0.995000	0.50966	0.091000	0.18340	2.497000	0.45354	1.324000	0.45282	-0.253000	0.11424	GAG	KIAA1009	-	NULL		0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84913752	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	84913752	C	A	84913752	4	1	65	1	0	0	0	0	0	1	0	0	8223	922	32	3	3661	3	KIAA1009	6	84913752	Nonsense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	9015616	84913752	86201315	42	9994										
BEND3	57673	genome.wustl.edu	37	chr6	107419870	107419870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tgaggacgctgtccacagagTgcttctcagaagtcctggaa	12	10	1	3			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:107419870T>C	ENST00000369042.1	-	3	315	c.125A>G	c.(124-126)cAc>cGc	p.H42R	BEND3_ENST00000429433.2_Missense_Mutation_p.H42R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	42										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GTCCACAGAGTGCTTCTCAGA	0.542																																																	0													112	106	108					6																	107419870		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.125A>G	6.37:g.107419870T>C	ENSP00000358038:p.His42Arg		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.H42R	ENST00000369042.1	37	c.125	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845092	0.32606	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	0.458	0.16670	.	0.538668	0.17751	N	0.163257	T	0.07369	0.0186	N	0.19112	0.55	0.28204	N	0.927238	B	0.09022	0.002	B	0.06405	0.002	T	0.29088	-1.0023	9	0.21014	T	0.42	8.1415	2.8661	0.05602	0.1324:0.0801:0.2761:0.5114	.	42	Q5T5X7	BEND3_HUMAN	R	42	.	ENSP00000358038:H42R	H	-	2	0	BEND3	107526563	1.000000	0.71417	0.999000	0.59377	0.483000	0.33249	1.009000	0.29886	0.427000	0.26145	0.533000	0.62120	CAC	BEND3	-	NULL		0.542	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	T	NM_020913		107419870	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	0.925	C	C	107419870	T	C	107419870	3	2	65	1	0	0	0	0	1	0	0	0	1400	1696	59	5	2369	5	BEND3	6	107419870	Missense_Mutation	SNP	T	TCGA-DS-A5RQ-01A-11D-A28B-09	22506118	107419870	63695197	43	9995										
FSCN1	6624	genome.wustl.edu	37	chr7	5642988	5642988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tgtgccttccgtacccacacGggcaagtactggacgctgac	11	14	0	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:5642988G>A	ENST00000382361.3	+	2	1047	c.933G>A	c.(931-933)acG>acA	p.T311T	FSCN1_ENST00000340250.6_Silent_p.T290T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	311					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTACCCACACGGGCAAGTACT	0.642																																																	0													99	68	78					7																	5642988		2203	4300	6503	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.933G>A	7.37:g.5642988G>A			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T311	ENST00000382361.3	37	c.933	CCDS5342.1	7																																																																																			FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.642	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	G	NM_003088		5642988	1	no_errors	ENST00000382361	ensembl	human	known	70_37	silent	SNP	0.999	A	A	5642988	G	A	5642988	2	1	65	1	0	0	0	0	0	0	0	1	6085	1103	39	2		2	FSCN1	7	5642988	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		5642988	153495675	44	9996										
CDK13	8621	genome.wustl.edu	37	chr7	40132638	40132638	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gaggaattcagccttcttctCagaccatccagcctaaagtg	8	12	3	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:40132638C>T	ENST00000181839.4	+	13	4095	c.3490C>T	c.(3490-3492)Cag>Tag	p.Q1164*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1104*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1164					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCCTTCTTCTCAGACCATCCA	0.488																																																	0													160	163	162					7																	40132638		2203	4300	6503	SO:0001587	stop_gained	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3490C>T	7.37:g.40132638C>T	ENSP00000181839:p.Gln1164*		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_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.Q1164*	ENST00000181839.4	37	c.3490	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.917918	0.99002	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1807	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	1164;1104	.	.	Q	+	1	0	CDK13	40099163	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.891000	0.69782	2.780000	0.95670	0.655000	0.94253	CAG	CDK13	-	NULL		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40132638	1	no_errors	ENST00000181839	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	40132638	C	T	40132638	4	4	65	1	0	0	0	0	0	1	0	0	3134	827	29	1	3540	1	CDK13	7	40132638	Nonsense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	34489650	40132638	119006025	45	9997										
ZAN	7455	genome.wustl.edu	37	chr7	100344303	100344303	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cagtctcctggtgcagccctCcacatttatgcttcagtctt	7	14	3	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:100344303C>T	ENST00000348028.3	+	0	1074				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGCAGCCCTCCACATTTATG	0.562																																																	0													132	135	134					7																	100344303		1936	4148	6084			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100344303C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L303	ENST00000348028.3	37	c.909		7																																																																																			ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100344303	1	no_errors	ENST00000546292	ensembl	human	known	70_37	silent	SNP	0.001	T	T	100344303	C	T	100344303	1	4	65	0	1	0	0	0	0	0	0	0	17544	842	30	1		1	ZAN	7	100344303	RNA	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	60211665	100344303	58794360	46	9998										
C7orf58	79974	genome.wustl.edu	37	chr7	120768478	120768478	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	taaatcagtgtctgtccttaGaagaaattaactcaattatg	6	6	3	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:120768478G>C	ENST00000310396.5	+	11	1812	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	CPED1_ENST00000423795.1_Missense_Mutation_p.E229Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E449Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	449						endoplasmic reticulum (GO:0005783)											TCTGTCCTTAGAAGAAATTAA	0.353																																																	0													89	91	90					7																	120768478		2203	4300	6503	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1345G>C	7.37:g.120768478G>C	ENSP00000309772:p.Glu449Gln		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.E449Q	ENST00000310396.5	37	c.1345	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295759	0.81025	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.57107	1.8;0.42;1.46;1.46;0.99	5.74	5.74	0.90152	.	0.238003	0.41500	D	0.000868	T	0.66771	0.2823	M	0.72894	2.215	0.80722	D	1	D;D;D	0.61697	0.961;0.971;0.99	P;P;P	0.55455	0.603;0.776;0.77	T	0.68326	-0.5438	10	0.54805	T	0.06	.	16.6406	0.85098	0.0:0.0:1.0:0.0	.	229;449;449	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	449;449;449;229;229	ENSP00000309772:E449Q;ENSP00000398082:E449Q;ENSP00000406122:E449Q;ENSP00000415573:E229Q;ENSP00000391952:E229Q	ENSP00000309772:E449Q	E	+	1	0	C7orf58	120555714	1.000000	0.71417	0.961000	0.40146	0.874000	0.50279	5.723000	0.68492	2.714000	0.92807	0.585000	0.79938	GAA	CPED1	-	NULL		0.353	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	G	NM_024913		120768478	1	no_errors	ENST00000310396	ensembl	human	known	70_37	missense	SNP	0.999	C	C	120768478	G	C	120768478	3	2	65	1	0	0	0	0	1	0	0	0	2410	943	33	1	1383	1	C7orf58	7	120768478	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	20424175	120768478	38370185	47	9999										
SND1	27044	genome.wustl.edu	37	chr7	127725781	127725781	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aggtaccgtgcccgagtagaGaaagtcgagtctcctgccaa	12	11	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:127725781G>A	ENST00000354725.3	+	20	2447	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	751	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCCGAGTAGAGAAAGTCGAGT	0.567																																																	0													188	168	175					7																	127725781		2203	4300	6503	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2253G>A	7.37:g.127725781G>A			Q13122|Q96AG0	Silent	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.E751	ENST00000354725.3	37	c.2253	CCDS34747.1	7																																																																																			SND1	-	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor		0.567	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	G	NM_014390		127725781	1	no_errors	ENST00000354725	ensembl	human	known	70_37	silent	SNP	1.000	A	A	127725781	G	A	127725781	2	1	65	1	0	0	0	0	0	0	0	1	14874	933	33	1		1	SND1	7	127725781	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	6957303	127725781	31412882	48	10000										
IMPDH1	3614	genome.wustl.edu	37	chr7	128040436	128040436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cagcaagaaagtcgatgtctCgggaggtgacgatgcccacc	13	11	1	2	rs201071873		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:128040436C>T	ENST00000480861.1	-	5	544	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	IMPDH1_ENST00000348127.6_Missense_Mutation_p.R210Q|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R160Q|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R136Q|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R213Q|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R177Q|IMPDH1_ENST00000338791.6_Missense_Mutation_p.R246Q|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R236Q|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R136Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GTCGATGTCTCGGGAGGTGAC	0.622																																																	0													36	31	32					7																	128040436		2203	4298	6501	SO:0001583	missense	3614				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.467G>A	7.37:g.128040436C>T	ENSP00000420185:p.Arg156Gln			Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH	p.R246Q	ENST00000480861.1	37	c.737	CCDS55161.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.286863	0.95517	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	D;D;D;D;D;D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.94964	3.605	0.58432	D	0.999998	P;B;B;P;P;P;P;B	0.49862	0.811;0.265;0.429;0.875;0.928;0.909;0.929;0.223	B;B;B;P;P;B;B;B	0.48921	0.358;0.377;0.377;0.499;0.595;0.353;0.426;0.259	D	0.97983	1.0350	10	0.87932	D	0	-2.3458	16.1423	0.81534	0.0:1.0:0.0:0.0	.	213;156;161;177;236;210;246;136	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	Q	213;246;136;236;177;210;136;160;156;177;152	ENSP00000399400:R213Q;ENSP00000345096:R246Q;ENSP00000420803:R136Q;ENSP00000346219:R236Q;ENSP00000367989:R177Q;ENSP00000265385:R210Q;ENSP00000342438:R136Q;ENSP00000417296:R160Q;ENSP00000420185:R156Q;ENSP00000419609:R177Q;ENSP00000418592:R152Q	ENSP00000345096:R246Q	R	-	2	0	IMPDH1	127827672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.409000	0.81822	0.561000	0.74099	CGA	IMPDH1	-	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core,tigrfam_IMP_DH		0.622	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	C	NM_000883		128040436	-1	no_errors	ENST00000338791	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128040436	C	T	128040436	3	4	65	1	0	0	0	0	1	0	0	0	7746	884	31	1	1102	1	IMPDH1	7	128040436	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	314655	128040436	31098227	49	10001										
UBR5	51366	genome.wustl.edu	37	chr8	103335715	103335715	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tgataaagaggattatttctCaagcatacctagcaaacaaa	6	7	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr8:103335715C>G	ENST00000520539.1	-	14	2214	c.1608G>C	c.(1606-1608)ttG>ttC	p.L536F	UBR5_ENST00000521922.1_Missense_Mutation_p.L530F|UBR5_ENST00000220959.4_Missense_Mutation_p.L536F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	536					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATTATTTCTCAAGCATACCT	0.303																																					Ovarian(131;96 1741 5634 7352 27489)												0													55	49	51					8																	103335715		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1608G>C	8.37:g.103335715C>G	ENSP00000429084:p.Leu536Phe		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.L536F	ENST00000520539.1	37	c.1608	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005084	0.54254	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53206	0.63;0.63;0.63	5.78	2.06	0.26882	.	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	L	0.33485	1.01	0.51012	D	0.999907	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	T	0.13683	-1.0500	10	0.40728	T	0.16	.	9.2968	0.37819	0.0:0.2115:0.0:0.7885	.	530;536	E7EMW7;O95071	.;UBR5_HUMAN	F	536;536;530	ENSP00000429084:L536F;ENSP00000220959:L536F;ENSP00000427819:L530F	ENSP00000220959:L536F	L	-	3	2	UBR5	103404891	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.588000	0.36633	0.110000	0.17919	-0.469000	0.05056	TTG	UBR5	-	NULL		0.303	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103335715	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103335715	C	G	103335715	3	3	65	1	0	0	0	0	1	0	0	0	16936	825	29	1	6975	1	UBR5	8	103335715	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		103335715	43028307	50	10002										
PIGO	84720	genome.wustl.edu	37	chr9	35093126	35093126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agctcagccatcacttccccGatattcccaaatgggatggg	9	13	2	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:35093126G>A	ENST00000378617.3	-	6	1414	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Silent_p.I340I|PIGO_ENST00000341666.3_Silent_p.I340I|PIGO_ENST00000298004.5_Silent_p.I340I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	340					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCACTTCCCCGATATTCCCAA	0.572																																																	0													55	50	52					9																	35093126		2203	4300	6503	SO:0001819	synonymous_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1020C>T	9.37:g.35093126G>A			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.I340	ENST00000378617.3	37	c.1020	CCDS6575.1	9																																																																																			PIGO	-	superfamily_Alkaline_phosphatase_core		0.572	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	G	NM_032634		35093126	-1	no_errors	ENST00000341666	ensembl	human	known	70_37	silent	SNP	0.378	A	A	35093126	G	A	35093126	2	1	65	1	0	0	0	0	0	0	0	1	11918	1048	37	1		1	PIGO	9	35093126	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		35093126	106120305	51	10003										
BICD2	23299	genome.wustl.edu	37	chr9	95481438	95481438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctccagccgggccagcagctCgcggtcctggcggctggcct	15	17	0	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:95481438C>T	ENST00000375512.3	-	5	1556	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	BICD2_ENST00000356884.6_Missense_Mutation_p.E497K	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	497					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGCAGCTCGCGGTCCTGG	0.662																																																	0													49	51	50					9																	95481438		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1489G>A	9.37:g.95481438C>T	ENSP00000364662:p.Glu497Lys		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E497K	ENST00000375512.3	37	c.1489	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.125966	0.94429	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43294	0.95;0.95	5.39	5.39	0.77823	.	0.154950	0.56097	D	0.000026	T	0.38295	0.1035	L	0.35542	1.07	0.80722	D	1	D;D	0.54601	0.959;0.967	B;P	0.47075	0.401;0.536	T	0.05068	-1.0908	10	0.14252	T	0.57	-19.8848	17.0121	0.86409	0.0:1.0:0.0:0.0	.	497;497	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	K	497	ENSP00000349351:E497K;ENSP00000364662:E497K	ENSP00000349351:E497K	E	-	1	0	BICD2	94521259	1.000000	0.71417	0.831000	0.32960	0.873000	0.50193	7.644000	0.83416	2.707000	0.92482	0.561000	0.74099	GAG	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.662	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95481438	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	0.999	T	T	95481438	C	T	95481438	3	4	65	1	0	0	0	0	1	0	0	0	1430	893	31	1	1100	1	BICD2	9	95481438	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	60388312	95481438	45731993	52	10004										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100075523	100075523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gttgttgctccgcagttcctGagaagataagcaccagcacc	10	12	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:100075523G>A	ENST00000357054.1	+	19	1839	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.E163K|CCDC180_ENST00000395220.1_Missense_Mutation_p.E302K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E163K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.E163K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	302						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CGCAGTTCCTGAGAAGATAAG	0.567																																																	0													123	105	111					9																	100075523		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.904G>A	9.37:g.100075523G>A	ENSP00000349562:p.Glu302Lys		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E163K	ENST00000357054.1	37	c.487		9	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315723	0.60524	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.20881	2.83;2.04;2.87;2.49;2.87	5.71	4.82	0.62117	.	0.182328	0.38778	N	0.001576	T	0.24736	0.0600	M	0.66939	2.045	0.32262	N	0.569995	P;P;P;P	0.50272	0.933;0.75;0.933;0.859	P;B;P;B	0.45406	0.479;0.158;0.479;0.259	T	0.24905	-1.0147	10	0.14252	T	0.57	-9.1392	10.9577	0.47366	0.0859:0.0:0.9141:0.0	.	163;302;163;302	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	302;302;163;163;186;163	ENSP00000349562:E302K;ENSP00000378646:E302K;ENSP00000364348:E163K;ENSP00000414000:E163K;ENSP00000434727:E163K	ENSP00000349562:E302K	E	+	1	0	C9orf174	99115344	0.993000	0.37304	0.099000	0.21106	0.087000	0.18053	2.489000	0.45285	1.576000	0.49790	0.561000	0.74099	GAG	C9orf174	-	NULL		0.567	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100075523	1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	0.691	A	A	100075523	G	A	100075523	3	1	65	1	0	0	0	0	1	0	0	0	8260	1291	45	1	934	1	KIAA1529	9	100075523	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	4594085	100075523	41137908	53	10005										
PBX3	5090	genome.wustl.edu	37	chr9	128723096	128723096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agcagcagctgtgcagaacaAccagaccaattcgcccacca	8	15	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:128723096A>G	ENST00000373489.5	+	6	993	c.977A>G	c.(976-978)aAc>aGc	p.N326S	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.N145S|PBX3_ENST00000373487.4_Missense_Mutation_p.N347S|PBX3_ENST00000342287.5_Missense_Mutation_p.N326S|PBX3_ENST00000447726.2_Missense_Mutation_p.N251S	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	326					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GTGCAGAACAACCAGACCAAT	0.567																																																	0													72	54	60					9																	128723096		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.977A>G	9.37:g.128723096A>G	ENSP00000362588:p.Asn326Ser		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N326S	ENST00000373489.5	37	c.977	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904294	0.33628	.	.	ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998	D;D;T;D;D;D	0.87650	-2.07;-2.02;2.05;-2.25;-2.28;-2.16	5.87	5.87	0.94306	.	0.039522	0.85682	D	0.000000	T	0.78227	0.4250	N	0.00859	-1.14	0.58432	D	0.999996	P;B;B	0.46578	0.88;0.0;0.0	P;B;B	0.62184	0.899;0.001;0.0	T	0.77653	-0.2507	10	0.02654	T	1	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	237;347;326	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	S	145;326;326;347;145;145;251;237	ENSP00000362588:N326S;ENSP00000341990:N326S;ENSP00000362586:N347S;ENSP00000362582:N145S;ENSP00000387456:N251S;ENSP00000444005:N237S	ENSP00000341990:N326S	N	+	2	0	PBX3	127762917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.174000	0.77620	2.244000	0.73946	0.533000	0.62120	AAC	PBX3	-	NULL		0.567	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	A			128723096	1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128723096	A	G	128723096	3	3	65	1	0	0	0	0	1	0	0	0	11518	43	2	5	999	5	PBX3	9	128723096	Missense_Mutation	SNP	A	TCGA-DS-A5RQ-01A-11D-A28B-09	28647573	128723096	12490335	54	10006										
NUP188	23511	genome.wustl.edu	37	chr9	131752436	131752436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctcattgctgttctagccaaAtacatctaccacaaacatga	4	12	3	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:131752436A>G	ENST00000372577.2	+	25	2592	c.2571A>G	c.(2569-2571)aaA>aaG	p.K857K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	857					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTCTAGCCAAATACATCTACC	0.463																																																	0													463	403	423					9																	131752436		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2571A>G	9.37:g.131752436A>G			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.K857	ENST00000372577.2	37	c.2571	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	A			131752436	1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	0.998	G	G	131752436	A	G	131752436	2	3	65	1	0	0	0	0	0	0	0	1	10782	98	4	5		5	NUP188	9	131752436	Silent	SNP	A	TCGA-DS-A5RQ-01A-11D-A28B-09	3029340	131752436	9460995	55	10007										
GRIN1	2902	genome.wustl.edu	37	chr9	140053108	140053108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aggaagatcatctggccaggCggagagacagagaagcctcg	15	9	2	3	rs138398771		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:140053108C>T	ENST00000371561.3	+	8	2246	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	GRIN1_ENST00000315048.3_Silent_p.G383G|GRIN1_ENST00000371553.3_Silent_p.G404G|GRIN1_ENST00000371560.3_Silent_p.G404G|GRIN1_ENST00000350902.5_Silent_p.G383G|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Silent_p.G404G|GRIN1_ENST00000371559.4_Silent_p.G383G|GRIN1_ENST00000371555.4_Silent_p.G404G|GRIN1_ENST00000371550.4_Silent_p.G383G	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	383					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGGCCAGGCGGAGAGACAG	0.627													C|||	1	0.000199681	0	0	5008	,	,		14458	0		0	False		,,,				2504	0.001				NSCLC(113;717 1653 2089 20474 37618)												0								C	,,,,	0,4406		0,0,2203	85	86	86		1149,1212,1212,1149,1149	-8.6	0.9	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRIN1	NM_000832.6,NM_001185090.1,NM_001185091.1,NM_007327.3,NM_021569.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	383/886,404/944,404/907,383/939,383/902	140053108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1149C>T	9.37:g.140053108C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G383	ENST00000371561.3	37	c.1149	CCDS7031.1	9																																																																																			GRIN1	-	NULL		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	C	NM_007327		140053108	1	no_errors	ENST00000371561	ensembl	human	known	70_37	silent	SNP	0.657	T	T	140053108	C	T	140053108	2	4	65	1	0	0	0	0	0	0	0	1	6798	755	27	2		2	GRIN1	9	140053108	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	8300672	140053108	1160323	56	10008										
PCDH15	65217	genome.wustl.edu	37	chr10	55600127	55600127	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctgttggtttgggggtcaatTgcatagacagtcaagtcaca	12	7	3	1	rs398124433		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:55600127T>C	ENST00000320301.6	-	29	4330	c.3936A>G	c.(3934-3936)gcA>gcG	p.A1312A	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1290A|PCDH15_ENST00000409834.1_Silent_p.A923A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.A1317A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A1312A|PCDH15_ENST00000361849.3_Silent_p.A1312A|PCDH15_ENST00000373965.2_Silent_p.A1319A|PCDH15_ENST00000395438.1_Silent_p.A1312A|PCDH15_ENST00000437009.1_Silent_p.A1241A|PCDH15_ENST00000395432.2_Silent_p.A1275A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Silent_p.A1319A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1312					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGGGTCAATTGCATAGACAG	0.443										HNSCC(58;0.16)																																							0													161	151	155					10																	55600127		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3936A>G	10.37:g.55600127T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1312	ENST00000320301.6	37	c.3936	CCDS7248.1	10																																																																																			PCDH15	-	NULL		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	T	NM_033056		55600127	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	silent	SNP	0.989	C	C	55600127	T	C	55600127	2	2	65	1	0	0	0	0	0	0	0	1	11535	1799	63	5		5	PCDH15	10	55600127	Silent	SNP	T	TCGA-DS-A5RQ-01A-11D-A28B-09		55600127	79934620	57	10009										
SLC29A3	55315	genome.wustl.edu	37	chr10	73115968	73115968	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctcgtgctctgcatgggactCtacctgctgctgtccaggct	11	14	2	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:73115968C>G	ENST00000373189.5	+	5	793	c.741C>G	c.(739-741)ctC>ctG	p.L247L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	247					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCATGGGACTCTACCTGCTGC	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													135	96	109					10																	73115968		2203	4300	6503	SO:0001819	synonymous_variant	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.741C>G	10.37:g.73115968C>G			B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.L247	ENST00000373189.5	37	c.741	CCDS7310.1	10																																																																																			SLC29A3	-	pfam_Eqnu_transpt,prints_Eqnu_transpt		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	C	NM_018344		73115968	1	no_errors	ENST00000373189	ensembl	human	known	70_37	silent	SNP	0.924	G	G	73115968	C	G	73115968	2	3	65	1	0	0	0	0	0	0	0	1	14566	900	32	1		1	SLC29A3	10	73115968	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	17515841	73115968	62418779	58	10010										
DNAJB12	54788	genome.wustl.edu	37	chr10	74103225	74103225	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ggtcctcatccgaggcccctCtgctcacccccaggatctca	8	19	4	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:74103225C>T	ENST00000444643.2	-	3	688	c.356G>A	c.(355-357)aGa>aAa	p.R119K	DNAJB12_ENST00000338820.3_Missense_Mutation_p.R153K|DNAJB12_ENST00000394903.2_Missense_Mutation_p.R153K|DNAJB12_ENST00000461919.1_5'UTR			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	119	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CGAGGCCCCTCTGCTCACCCC	0.567																																																	0													117	105	109					10																	74103225		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.356G>A	10.37:g.74103225C>T	ENSP00000403313:p.Arg119Lys		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R153K	ENST00000444643.2	37	c.458		10	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953797	0.34471	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.28895	1.59;1.59;1.59	5.29	5.29	0.74685	Heat shock protein DnaJ, N-terminal (5);	0.043759	0.85682	D	0.000000	T	0.22820	0.0551	L	0.31420	0.93	0.54753	D	0.999982	B;B	0.18166	0.021;0.026	B;B	0.17433	0.018;0.017	T	0.08493	-1.0719	10	0.02654	T	1	-9.2802	19.1804	0.93620	0.0:1.0:0.0:0.0	.	119;119	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	K	153;153;119	ENSP00000345575:R153K;ENSP00000378363:R153K;ENSP00000403313:R119K	ENSP00000345575:R153K	R	-	2	0	DNAJB12	73773231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.655000	0.61476	2.764000	0.94973	0.650000	0.86243	AGA	DNAJB12	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.567	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	C			74103225	-1	no_errors	ENST00000338820	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74103225	C	T	74103225	3	4	65	1	0	0	0	0	1	0	0	0	4627	913	32	1	795	1	DNAJB12	10	74103225	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	987257	74103225	61431522	59	10011										
SFTPD	6441	genome.wustl.edu	37	chr10	81701751	81701751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ggactccacgctcaccagggAcacctcgctctcccttaggg	10	17	2	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:81701751A>G	ENST00000372292.3	-	5	549	c.509T>C	c.(508-510)gTc>gCc	p.V170A		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	170	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCACCAGGGACACCTCGCTC	0.627																																																	0													92	87	88					10																	81701751		2203	4300	6503	SO:0001583	missense	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.509T>C	10.37:g.81701751A>G	ENSP00000361366:p.Val170Ala		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V170A	ENST00000372292.3	37	c.509	CCDS7362.1	10	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.219233	0.00286	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.53857	0.6;0.6	5.18	-2.24	0.06909	.	1.069230	0.07302	N	0.874236	T	0.19485	0.0468	N	0.03930	-0.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17107	-1.0380	10	0.07990	T	0.79	0.0717	0.6454	0.00817	0.2499:0.1315:0.3499:0.2687	.	170	P35247	SFTPD_HUMAN	A	170;183	ENSP00000361366:V170A;ENSP00000394325:V183A	ENSP00000361366:V170A	V	-	2	0	SFTPD	81691731	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.033000	0.13754	-0.359000	0.08150	-0.337000	0.08149	GTC	SFTPD	-	pfam_Collagen		0.627	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPD	HGNC	protein_coding	OTTHUMT00000049011.1	A			81701751	-1	no_errors	ENST00000372292	ensembl	human	known	70_37	missense	SNP	0.000	G	G	81701751	A	G	81701751	3	3	65	1	0	0	0	0	1	0	0	0	14223	275	10	5	634	5	SFTPD	10	81701751	Missense_Mutation	SNP	A	TCGA-DS-A5RQ-01A-11D-A28B-09	7598526	81701751	53832996	60	10012										
ADAM8	101	genome.wustl.edu	37	chr10	135082987	135082987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gcagcttcgcgcagtggggcGgggcccagcccgcgtggcag	19	14	0	0	rs375767499		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:135082987G>A	ENST00000445355.3	-	18	1960	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	ADAM8_ENST00000415217.3_Missense_Mutation_p.P637L|ADAM8_ENST00000485491.2_Missense_Mutation_p.P572L	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	637	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCAGTGGGGCGGGGCCCAGCC	0.706																																																	0								G	LEU/PRO,LEU/PRO,LEU/PRO	1,4367		0,1,2183	19	20	20		1910,1910,1715	3.8	0.9	10		20	0,8572		0,0,4286	no	missense,missense,missense	ADAM8	NM_001109.4,NM_001164489.1,NM_001164490.1	98,98,98	0,1,6469	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging,probably-damaging,probably-damaging	637/825,637/743,572/734	135082987	1,12939	2184	4286	6470	SO:0001583	missense	101			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1910C>T	10.37:g.135082987G>A	ENSP00000453302:p.Pro637Leu		B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P637L	ENST00000445355.3	37	c.1910	CCDS31319.2	10																																																																																			ADAM8	-	pfscan_EG-like_dom		0.706	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM8	HGNC	protein_coding	OTTHUMT00000051118.4	G	NM_001109		135082987	-1	no_errors	ENST00000445355	ensembl	human	known	70_37	missense	SNP	0.999	A	A	135082987	G	A	135082987	3	1	65	1	0	0	0	0	1	0	0	0	252	1116	39	2	506	2	ADAM8	10	135082987	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	53381236	135082987	451760	61	10013										
MUC5B	727897	genome.wustl.edu	37	chr11	1281216	1281216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aatgaaacctgggtcaacagCcatgtggacaactgcaccgt	10	11	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:1281216C>T	ENST00000529681.1	+	46	16882	c.16824C>T	c.(16822-16824)agC>agT	p.S5608S	MUC5B_ENST00000447027.1_Silent_p.S5611S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5608					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGTCAACAGCCATGTGGACA	0.572																																																	0													147	157	154					11																	1281216		2100	4236	6336	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16824C>T	11.37:g.1281216C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S5611	ENST00000529681.1	37	c.16833	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.572	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1281216	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.028	T	T	1281216	C	T	1281216	2	4	65	1	0	0	0	0	0	0	0	1	10002	738	26	4		4	MUC5B	11	1281216	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		1281216	133725300	62	10014										
TRIM21	6737	genome.wustl.edu	37	chr11	4406540	4406540	+	Frame_Shift_Del	DEL	C	C	-													0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agtcagtggatccttgtgatCcaatattcagtggacagagg							TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:4406540delC	ENST00000254436.7	-	7	1515	c.1403delG	c.(1402-1404)ggafs	p.G468fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.G468fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	468					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCCTTGTGATCCAATATTCAG	0.512																																																	0													78	77	77					11																	4406540		2001	4166	6167	SO:0001589	frameshift_variant	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1403delG	11.37:g.4406540delC	ENSP00000254436:p.Gly468fs		Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.G468fs	ENST00000254436.7	37	c.1403	CCDS44525.1	11																																																																																			TRIM21	-	NULL		0.512	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	C	NM_003141		4406540	-1	no_errors	ENST00000254436	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	4406540	C	-	4406540	7	5	65	1	0	1	0	1	0	0	0	0	16526	855	30	0	28	0	TRIM21	11	4406540	Frame_Shift_Del	DEL	C	TCGA-DS-A5RQ-01A-11D-A28B-09	3125324	4406540	130599976	63	10015										
SPTY2D1	144108	genome.wustl.edu	37	chr11	18636757	18636757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tattgtgtggggtgaccatgGgcccaggcctggaatggcta	16	8	0	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:18636757G>A	ENST00000336349.5	-	3	1299	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	355	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGTGACCATGGGCCCAGGCCT	0.567																																																	0													111	121	118					11																	18636757		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1064C>T	11.37:g.18636757G>A	ENSP00000337991:p.Pro355Leu		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.P355L	ENST00000336349.5	37	c.1064	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523705	0.27299	.	.	ENSG00000179119	ENST00000336349	T	0.26957	1.7	5.84	3.96	0.45880	.	0.807432	0.11535	N	0.554335	T	0.17874	0.0429	L	0.32530	0.975	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	10	0.33940	T	0.23	0.0012	5.2361	0.15446	0.2262:0.0:0.5961:0.1777	.	355	Q68D10	SPT2_HUMAN	L	355	ENSP00000337991:P355L	ENSP00000337991:P355L	P	-	2	0	SPTY2D1	18593333	0.000000	0.05858	0.079000	0.20413	0.353000	0.29299	0.066000	0.14489	1.470000	0.48102	0.563000	0.77884	CCC	SPTY2D1	-	NULL		0.567	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	G	NM_194285		18636757	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	0.001	A	A	18636757	G	A	18636757	3	1	65	1	0	0	0	0	1	0	0	0	15156	1232	43	4	1009	4	SPTY2D1	11	18636757	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	14230217	18636757	116369759	64	10016										
OR4C15	81309	genome.wustl.edu	37	chr11	55322729	55322729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tgtatatacacgacctccatCtgctttttcccttgacaaaa	4	12	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:55322729C>T	ENST00000314644.2	+	1	947	c.947C>T	c.(946-948)tCt>tTt	p.S316F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGACCTCCATCTGCTTTTTCC	0.398										HNSCC(20;0.049)																																							0													219	217	217					11																	55322729		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.947C>T	11.37:g.55322729C>T	ENSP00000324958:p.Ser316Phe		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S316F	ENST00000314644.2	37	c.947	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	9.461	1.093104	0.20471	.	.	ENSG00000181939	ENST00000314644	T	0.00267	8.38	4.92	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.86651	2.83	0.09310	N	1	D	0.61080	0.989	D	0.71184	0.972	T	0.43180	-0.9407	9	0.56958	D	0.05	.	6.7846	0.23665	0.0:0.7269:0.1784:0.0948	.	262	Q8NGM1	OR4CF_HUMAN	F	316	ENSP00000324958:S316F	ENSP00000324958:S316F	S	+	2	0	OR4C15	55079305	0.000000	0.05858	0.138000	0.22173	0.248000	0.25809	-0.167000	0.09940	1.308000	0.44962	0.385000	0.25706	TCT	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	C	NM_001001920		55322729	1	no_errors	ENST00000314644	ensembl	human	known	70_37	missense	SNP	0.003	T	T	55322729	C	T	55322729	3	4	65	1	0	0	0	0	1	0	0	0	11072	913	32	1	949	1	OR4C15	11	55322729	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	36685972	55322729	79683787	65	10017										
MS4A15	219995	genome.wustl.edu	37	chr11	60541372	60541372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gtcctggagttcttcacagcGgtcattgccatgcacttcgg	11	12	3	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:60541372G>A	ENST00000405633.3	+	6	640	c.561G>A	c.(559-561)gcG>gcA	p.A187A	MS4A15_ENST00000528170.1_Silent_p.A146A|MS4A15_ENST00000337911.4_Silent_p.A94A	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	187						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						TCTTCACAGCGGTCATTGCCA	0.587																																																	0													218	173	188					11																	60541372		2203	4300	6503	SO:0001819	synonymous_variant	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.561G>A	11.37:g.60541372G>A			A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	pfam_CD20-like	p.A187	ENST00000405633.3	37	c.561	CCDS44617.1	11																																																																																			MS4A15	-	NULL		0.587	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MS4A15	HGNC	protein_coding	OTTHUMT00000395618.1	G			60541372	1	no_errors	ENST00000405633	ensembl	human	known	70_37	silent	SNP	0.040	A	A	60541372	G	A	60541372	2	1	65	1	0	0	0	0	0	0	0	1	9882	1103	39	2		2	MS4A15	11	60541372	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	5218643	60541372	74465144	66	10018										
ADRBK1	156	genome.wustl.edu	37	chr11	67052440	67052440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	accgcctcgagtggcggggcGagggcgaggccccggtaagg	20	12	0	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:67052440G>A	ENST00000308595.5	+	19	2067	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	593	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GTGGCGGGGCGAGGGCGAGGC	0.697																																																	0													33	29	30					11																	67052440		2194	4281	6475	SO:0001583	missense	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1777G>A	11.37:g.67052440G>A	ENSP00000312262:p.Glu593Lys		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E593K	ENST00000308595.5	37	c.1777	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697857	0.48307	.	.	ENSG00000173020	ENST00000308595	T	0.75821	-0.97	4.46	4.46	0.54185	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.46442	D	0.000292	T	0.67031	0.2850	L	0.44542	1.39	0.80722	D	1	P	0.34639	0.461	B	0.29353	0.101	T	0.71290	-0.4637	10	0.54805	T	0.06	-0.1698	17.2784	0.87122	0.0:0.0:1.0:0.0	.	593	P25098	ARBK1_HUMAN	K	593	ENSP00000312262:E593K	ENSP00000312262:E593K	E	+	1	0	ADRBK1	66809016	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	8.604000	0.90877	2.473000	0.83533	0.591000	0.81541	GAG	ADRBK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.697	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67052440	1	no_errors	ENST00000308595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67052440	G	A	67052440	3	1	65	1	0	0	0	0	1	0	0	0	343	1059	37	1	1851	1	ADRBK1	11	67052440	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	6511068	67052440	67954076	67	10019										
ATM	472	genome.wustl.edu	37	chr11	108236094	108236094	+	Frame_Shift_Del	DEL	A	A	-													0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aaagtagctgaacgtgtcttAatgagactacaagagaaact							TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:108236094delA	ENST00000452508.2	+	64	9219	c.9030delA	c.(9028-9030)ttafs	p.L3010fs	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.L3010fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3010					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AACGTGTCTTAATGAGACTAC	0.423			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													132	128	129					11																	108236094		2201	4298	6499	SO:0001589	frameshift_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9030delA	11.37:g.108236094delA	ENSP00000388058:p.Leu3010fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M3011fs	ENST00000452508.2	37	c.9030	CCDS31669.1	11																																																																																			ATM	-	smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.423	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	A	NM_000051		108236094	1	no_errors	ENST00000278616	ensembl	human	known	70_37	frame_shift_del	DEL	0.996	-	-	108236094	A	-	108236094	7	5	65	1	0	1	0	1	0	0	0	0	1110	359	13	0	9276	0	ATM	11	108236094	Frame_Shift_Del	DEL	A	TCGA-DS-A5RQ-01A-11D-A28B-09	41183654	108236094	26770422	68	10020										
CACNA1C	775	genome.wustl.edu	37	chr12	2602389	2602389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agatgacccttccccttgtgCgctggaaacgggccacgggc	13	14	0	2	rs533892755		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:2602389C>T	ENST00000347598.4	+	7	950	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CACNA1C_ENST00000399617.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A317V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A317V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A317V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	317					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCCTTGTGCGCTGGAAACG	0.592																																																	0													67	69	68					12																	2602389		2118	4252	6370	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.950C>T	12.37:g.2602389C>T	ENSP00000266376:p.Ala317Val		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A317V	ENST00000347598.4	37	c.950	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731671	0.89390	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96396	-3.92;-3.94;-3.94;-3.93;-3.93;-3.93;-3.96;-3.84;-3.88;-3.93;-3.86;-3.85;-3.93;-3.99;-3.85;-3.77;-4.0;-3.95;-3.94;-3.97;-3.87;-3.96;-3.99	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0;0.995;0.988;1.0;1.0;0.988;1.0;1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D	0.87578	0.992;0.994;0.93;0.994;0.997;0.987;0.997;0.95;0.701;0.997;0.987;0.823;0.997;0.996;0.998;0.987;0.859;0.997;0.884;0.987;0.997;0.997;0.987;0.987	D	0.98070	1.0398	10	0.62326	D	0.03	.	18.6169	0.91305	0.0:1.0:0.0:0.0	.	317;314;317;317;317;317;317;317;317;317;317;288;317;317;317;317;317;317;317;317;317;317;317;317	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;158	ENSP00000336982:A317V;ENSP00000382563:A317V;ENSP00000437936:A317V;ENSP00000382552:A317V;ENSP00000382547:A317V;ENSP00000382506:A317V;ENSP00000382530:A317V;ENSP00000382546:A317V;ENSP00000382500:A317V;ENSP00000382549:A317V;ENSP00000266376:A317V;ENSP00000382515:A317V;ENSP00000382510:A317V;ENSP00000341092:A317V;ENSP00000382537:A317V;ENSP00000329877:A317V;ENSP00000382557:A317V;ENSP00000385724:A317V;ENSP00000382512:A317V;ENSP00000382542:A317V;ENSP00000382526:A317V;ENSP00000385896:A317V;ENSP00000382504:A317V	ENSP00000323129:A158V	A	+	2	0	CACNA1C	2472650	1.000000	0.71417	0.965000	0.40720	0.549000	0.35272	7.420000	0.80191	2.633000	0.89246	0.455000	0.32223	GCG	CACNA1C	-	pfam_Ion_trans_dom		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2602389	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2602389	C	T	2602389	3	4	65	1	0	0	0	0	1	0	0	0	2545	768	27	2	976	2	CACNA1C	12	2602389	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		2602389	131249506	69	10021										
FOXM1	2305	genome.wustl.edu	37	chr12	2983505	2983505	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tggactctgccacttccttgGaggcctctgcttgattagac	10	12	2	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:2983505G>C	ENST00000359843.3	-	2	208	c.140C>G	c.(139-141)tCc>tGc	p.S47C	FOXM1_ENST00000361953.3_Missense_Mutation_p.S47C|FOXM1_ENST00000537018.1_5'Flank|RHNO1_ENST00000461997.2_5'Flank|RHNO1_ENST00000489288.2_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.S47C	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	47					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CACTTCCTTGGAGGCCTCTGC	0.532																																																	0													124	127	126					12																	2983505		2203	4300	6503	SO:0001583	missense	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.140C>G	12.37:g.2983505G>C	ENSP00000352901:p.Ser47Cys		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S47C	ENST00000359843.3	37	c.140	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463653	0.26248	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.94138	-3.25;-3.36;-3.26	5.15	5.15	0.70609	.	0.380247	0.25313	N	0.031561	D	0.92319	0.7563	M	0.65975	2.015	0.43263	D	0.995202	B;B;B;B;B	0.19445	0.011;0.011;0.02;0.011;0.036	B;B;B;B;B	0.21708	0.016;0.016;0.036;0.016;0.036	D	0.90021	0.4128	10	0.66056	D	0.02	.	15.086	0.72155	0.0:0.1419:0.8581:0.0	.	47;47;47;47;47	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	C	47	ENSP00000342307:S47C;ENSP00000354492:S47C;ENSP00000352901:S47C	ENSP00000342307:S47C	S	-	2	0	FOXM1	2853766	1.000000	0.71417	0.910000	0.35882	0.157000	0.22087	4.096000	0.57734	2.674000	0.91012	0.655000	0.94253	TCC	FOXM1	-	NULL		0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	G	NM_021953		2983505	-1	no_errors	ENST00000342628	ensembl	human	known	70_37	missense	SNP	0.980	C	C	2983505	G	C	2983505	3	2	65	1	0	0	0	0	1	0	0	0	6036	1174	41	1	2301	1	FOXM1	12	2983505	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	381116	2983505	130868390	70	10022										
PZP	5858	genome.wustl.edu	37	chr12	9321533	9321533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctgaacacgactttggttttCggatttttgagttagtgaac	10	6	0	3			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:9321533C>T	ENST00000261336.2	-	17	2067	c.2039G>A	c.(2038-2040)cGa>cAa	p.R680Q	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Missense_Mutation_p.R549Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	680					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTTTGGTTTTCGGATTTTTGA	0.353																																					Melanoma(125;1402 1695 4685 34487 38571)												0													121	120	120					12																	9321533		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2039G>A	12.37:g.9321533C>T	ENSP00000261336:p.Arg680Gln		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R680Q	ENST00000261336.2	37	c.2039	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092972	0.20471	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36699	1.43;1.24	3.23	-0.861	0.10676	.	1.128580	0.07181	U	0.854027	T	0.22322	0.0538	L	0.28054	0.825	0.09310	N	1	B;P;B	0.45827	0.184;0.867;0.184	B;B;B	0.37422	0.014;0.249;0.014	T	0.21552	-1.0242	10	0.54805	T	0.06	.	6.8568	0.24044	0.0:0.5298:0.0:0.4702	.	680;549;680	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	Q	680;549	ENSP00000261336:R680Q;ENSP00000371427:R549Q	ENSP00000261336:R680Q	R	-	2	0	PZP	9212800	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.899000	0.01600	-0.090000	0.12462	0.563000	0.77884	CGA	PZP	-	NULL		0.353	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	C	NM_002864		9321533	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9321533	C	T	9321533	3	4	65	1	0	0	0	0	1	0	0	0	12899	884	31	1	2489	1	PZP	12	9321533	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	6338028	9321533	124530362	71	10023										
PDZRN4	29951	genome.wustl.edu	37	chr12	41967170	41967170	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	attcaacagaaatctgcagtCgagtatgctcagagtcagct	9	9	4	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:41967170C>T	ENST00000402685.2	+	10	2597	c.2589C>T	c.(2587-2589)gtC>gtT	p.V863V	PDZRN4_ENST00000539469.2_Silent_p.V605V|PDZRN4_ENST00000298919.7_Silent_p.V603V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	863							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AATCTGCAGTCGAGTATGCTC	0.473																																																	0													115	114	115					12																	41967170		2203	4300	6503	SO:0001819	synonymous_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2589C>T	12.37:g.41967170C>T			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.V863	ENST00000402685.2	37	c.2589	CCDS53777.1	12																																																																																			PDZRN4	-	NULL		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	C	NM_013377		41967170	1	no_errors	ENST00000402685	ensembl	human	known	70_37	silent	SNP	0.992	T	T	41967170	C	T	41967170	2	4	65	1	0	0	0	0	0	0	0	1	11734	871	31	1		1	PDZRN4	12	41967170	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	32645637	41967170	91884725	72	10024										
PTPRB	5787	genome.wustl.edu	37	chr12	70983807	70983807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctcaacaatgacttccacctCatactgtcttcccggtacga	5	15	3	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:70983807C>T	ENST00000261266.5	-	6	1362	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	PTPRB_ENST00000550358.1_Missense_Mutation_p.E663K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E445K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000334414.6_Missense_Mutation_p.E663K|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000551525.1_Missense_Mutation_p.E662K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	445	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTTCCACCTCATACTGTCTT	0.453											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													155	158	157					12																	70983807		1979	4157	6136	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1333G>A	12.37:g.70983807C>T	ENSP00000261266:p.Glu445Lys	1126	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E663K	ENST00000261266.5	37	c.1987	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	3.063	-0.192927	0.06259	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	5.32	3.35	0.38373	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.578538	0.19192	N	0.120408	T	0.45955	0.1368	L	0.42581	1.335	0.80722	D	1	B;P;B;B;B;B	0.34462	0.215;0.454;0.399;0.125;0.136;0.185	B;B;B;B;B;B	0.39935	0.209;0.314;0.209;0.138;0.217;0.281	T	0.28618	-1.0038	10	0.06891	T	0.86	.	15.1733	0.72891	0.0:0.7326:0.2674:0.0	.	445;542;662;663;445;663	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	K	663;663;663;445;445;662;542	ENSP00000334928:E663K;ENSP00000448058:E663K;ENSP00000438927:E445K;ENSP00000261266:E445K;ENSP00000448349:E662K;ENSP00000446982:E542K	ENSP00000261266:E445K	E	-	1	0	PTPRB	69270074	0.937000	0.31787	0.807000	0.32361	0.084000	0.17831	0.593000	0.23999	1.206000	0.43276	-0.176000	0.13171	GAG	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	C			70983807	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70983807	C	T	70983807	3	4	65	1	0	0	0	0	1	0	0	0	12826	835	29	1	4768	1	PTPRB	12	70983807	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	29016637	70983807	62868088	73	10025										
SYCP3	50511	genome.wustl.edu	37	chr12	102131031	102131031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ccatatcttcaactactcctGcagaagaccttttcttccta	3	14	3	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:102131031G>T	ENST00000392927.3	-	3	310	c.179C>A	c.(178-180)gCa>gAa	p.A60E	SYCP3_ENST00000266743.2_Missense_Mutation_p.A60E|SYCP3_ENST00000392924.1_Missense_Mutation_p.A60E	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	60					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AACTACTCCTGCAGAAGACCT	0.294																																																	0													125	136	132					12																	102131031		2202	4300	6502	SO:0001583	missense	50511			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.179C>A	12.37:g.102131031G>T	ENSP00000376658:p.Ala60Glu			Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.A60E	ENST00000392927.3	37	c.179	CCDS9087.1	12	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537433	0.13188	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.5	2.41	0.29592	.	1.710450	0.02557	N	0.096302	T	0.40145	0.1105	L	0.43152	1.355	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.30179	-0.9987	9	0.05525	T	0.97	0.3069	10.843	0.46726	0.0:0.2655:0.597:0.1375	.	60	Q8IZU3	SYCP3_HUMAN	E	60	.	ENSP00000266743:A60E	A	-	2	0	SYCP3	100655162	0.001000	0.12720	0.001000	0.08648	0.396000	0.30629	0.233000	0.17911	0.626000	0.30322	0.557000	0.71058	GCA	SYCP3	-	NULL		0.294	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	HGNC	protein_coding	OTTHUMT00000316478.2	G	NM_153694		102131031	-1	no_errors	ENST00000266743	ensembl	human	known	70_37	missense	SNP	0.002	T	T	102131031	G	T	102131031	3	4	65	1	0	0	0	0	1	0	0	0	15464	1319	46	4	559	4	SYCP3	12	102131031	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	31147224	102131031	31720864	74	10026										
CCDC63	160762	genome.wustl.edu	37	chr12	111291255	111291255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cgacactccccaggaaccttCggagaaggccaaagagcagc	11	14	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:111291255C>T	ENST00000308208.5	+	3	298	c.56C>T	c.(55-57)tCg>tTg	p.S19L	CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	19										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAGGAACCTTCGGAGAAGGCC	0.562																																																	0													53	55	54					12																	111291255		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.56C>T	12.37:g.111291255C>T	ENSP00000312399:p.Ser19Leu		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.S19L	ENST00000308208.5	37	c.56	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915419	0.52546	.	.	ENSG00000173093	ENST00000308208	T	0.33654	1.4	5.2	2.22	0.28083	.	0.646950	0.13713	N	0.367929	T	0.35770	0.0943	M	0.70595	2.14	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35847	-0.9772	10	0.66056	D	0.02	.	7.4676	0.27330	0.0:0.6945:0.0:0.3055	.	19	Q8NA47	CCD63_HUMAN	L	19	ENSP00000312399:S19L	ENSP00000312399:S19L	S	+	2	0	CCDC63	109775638	0.003000	0.15002	0.002000	0.10522	0.025000	0.11179	1.074000	0.30703	0.639000	0.30564	0.462000	0.41574	TCG	CCDC63	-	NULL		0.562	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	C	NM_152591		111291255	1	no_errors	ENST00000308208	ensembl	human	known	70_37	missense	SNP	0.000	T	T	111291255	C	T	111291255	3	4	65	1	0	0	0	0	1	0	0	0	2839	893	31	1	62	1	CCDC63	12	111291255	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	9160224	111291255	22560640	75	10027										
GCN1L1	10985	genome.wustl.edu	37	chr12	120600928	120600928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctgggccagttgttcagtgtCggtgacatcacccttgagcc	12	12	2	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:120600928C>T	ENST00000300648.6	-	19	1996	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	662					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTCAGTGTCGGTGACATCA	0.607																																																	0													96	98	97					12																	120600928		2116	4224	6340	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1984G>A	12.37:g.120600928C>T	ENSP00000300648:p.Asp662Asn		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D662N	ENST00000300648.6	37	c.1984	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908918	0.33721	.	.	ENSG00000089154	ENST00000300648	T	0.05199	3.48	5.71	-0.727	0.11166	Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.440664	0.27147	N	0.020719	T	0.04227	0.0117	L	0.27053	0.805	0.22648	N	0.998892	B	0.13145	0.007	B	0.10450	0.005	T	0.44682	-0.9312	10	0.16420	T	0.52	.	11.333	0.49487	0.0:0.7327:0.0:0.2673	.	662	Q92616	GCN1L_HUMAN	N	662	ENSP00000300648:D662N	ENSP00000300648:D662N	D	-	1	0	GCN1L1	119085311	0.993000	0.37304	0.003000	0.11579	0.807000	0.45602	2.820000	0.48057	-0.085000	0.12573	-0.140000	0.14226	GAC	GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold		0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	C			120600928	-1	no_errors	ENST00000300648	ensembl	human	known	70_37	missense	SNP	0.695	T	T	120600928	C	T	120600928	3	4	65	1	0	0	0	0	1	0	0	0	6318	884	31	1	6191	1	GCN1L1	12	120600928	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	9309673	120600928	13250967	76	10028										
C13orf34	79866	genome.wustl.edu	37	chr13	73320995	73320995	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ccatgtctgttacacaaaatCagtccagtgcttctgagaaa	7	10	3	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr13:73320995C>T	ENST00000390667.5	+	10	1325	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	BORA_ENST00000377815.3_Nonsense_Mutation_p.Q340*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	410					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TACACAAAATCAGTCCAGTGC	0.438																																																	0													115	108	110					13																	73320995		1936	4137	6073	SO:0001587	stop_gained	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1228C>T	13.37:g.73320995C>T	ENSP00000375082:p.Gln410*		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Nonsense_Mutation	SNP	prints_Aurora_borealis_protien	p.Q410*	ENST00000390667.5	37	c.1228	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.265152	0.95399	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	.	.	.	5.7	4.83	0.62350	.	0.764575	0.13308	N	0.397697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0577	9.5433	0.39266	0.1425:0.7864:0.0:0.071	.	.	.	.	X	340;410	.	ENSP00000367046:Q340X	Q	+	1	0	BORA	72218996	0.430000	0.25538	0.010000	0.14722	0.884000	0.51177	3.390000	0.52523	2.687000	0.91594	0.655000	0.94253	CAG	BORA	-	NULL		0.438	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	C	NM_024808		73320995	1	no_errors	ENST00000390667	ensembl	human	known	70_37	nonsense	SNP	0.072	T	T	73320995	C	T	73320995	4	4	65	1	0	0	0	0	0	1	0	0	1732	827	29	1	1262	1	C13orf34	13	73320995	Nonsense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		73320995	41848883	77	10029										
TPP2	7174	genome.wustl.edu	37	chr13	103257239	103257239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aagtagagccaaaggatggtGagattgttggcctttcagga	14	5	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr13:103257239G>A	ENST00000376065.4	+	2	298	c.262G>A	c.(262-264)Gag>Aag	p.E88K	TPP2_ENST00000376052.3_Missense_Mutation_p.E88K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	88	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGATGGTGAGATTGTTGG	0.368																																																	0													240	225	230					13																	103257239		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.262G>A	13.37:g.103257239G>A	ENSP00000365233:p.Glu88Lys		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.E88K	ENST00000376065.4	37	c.262	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156755	0.38119	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.91	5.91	0.95273	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.155964	0.64402	D	0.000018	T	0.50939	0.1645	L	0.48642	1.525	0.40875	D	0.983947	P	0.35226	0.491	B	0.28916	0.096	T	0.47623	-0.9103	9	0.19147	T	0.46	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	88	P29144	TPP2_HUMAN	K	88	.	ENSP00000365220:E88K	E	+	1	0	TPP2	102055240	1.000000	0.71417	0.977000	0.42913	0.229000	0.25112	5.329000	0.65892	2.793000	0.96121	0.655000	0.94253	GAG	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	G			103257239	1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103257239	G	A	103257239	3	1	65	1	0	0	0	0	1	0	0	0	16443	1291	45	1	268	1	TPP2	13	103257239	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	29936244	103257239	11912639	78	10030										
SYNE2	23224	genome.wustl.edu	37	chr14	64463825	64463825	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aagacttctgaaatgtgcttCcgagattcatatgacactgc	8	9	2	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr14:64463825C>G	ENST00000344113.4	+	24	3313	c.3101C>G	c.(3100-3102)tCc>tGc	p.S1034C	SYNE2_ENST00000358025.3_Missense_Mutation_p.S1034C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1034C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1034					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGTGCTTCCGAGATTCAT	0.428																																																	0													61	58	59					14																	64463825		1901	4122	6023	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3101C>G	14.37:g.64463825C>G	ENSP00000341781:p.Ser1034Cys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1034C	ENST00000344113.4	37	c.3101	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895222	0.33442	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.60171	0.55;0.56;0.21	5.15	5.15	0.70609	.	0.419012	0.20250	N	0.096107	T	0.63920	0.2552	L	0.44542	1.39	0.80722	D	1	D;D	0.59767	0.977;0.986	P;P	0.55999	0.62;0.789	T	0.66252	-0.5970	10	0.72032	D	0.01	.	14.4917	0.67654	0.0:1.0:0.0:0.0	.	1034;1034	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	C	1034	ENSP00000350719:S1034C;ENSP00000341781:S1034C;ENSP00000452570:S1034C	ENSP00000261678:S1034C	S	+	2	0	SYNE2	63533578	0.038000	0.19896	0.202000	0.23494	0.660000	0.38997	2.862000	0.48388	2.555000	0.86185	0.563000	0.77884	TCC	SYNE2	-	NULL		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64463825	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.374	G	G	64463825	C	G	64463825	3	3	65	1	0	0	0	0	1	0	0	0	15476	855	30	1	3191	1	SYNE2	14	64463825	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		64463825	42885715	79	10031										
INF2	64423	genome.wustl.edu	37	chr14	105179925	105179925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aggcagcctccatggatcccCcaagagccacagagcctggt	11	15	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr14:105179925C>T	ENST00000392634.4	+	20	3134	c.3022C>T	c.(3022-3024)Cca>Tca	p.P1008S	INF2_ENST00000330634.7_Missense_Mutation_p.P1008S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1008					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CATGGATCCCCCAAGAGCCAC	0.652																																																	0													46	65	59					14																	105179925		2049	4195	6244	SO:0001583	missense	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3022C>T	14.37:g.105179925C>T	ENSP00000376410:p.Pro1008Ser		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.P1008S	ENST00000392634.4	37	c.3022	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565590	0.27915	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.78364	-1.17;-1.17	4.04	2.1	0.27182	.	.	.	.	.	T	0.58864	0.2152	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.42515	-0.9447	9	0.25106	T	0.35	.	4.7581	0.13093	0.1462:0.6078:0.1581:0.0879	.	1008;1008	Q27J81-2;Q27J81	.;INF2_HUMAN	S	1008	ENSP00000376406:P1008S;ENSP00000376410:P1008S	ENSP00000252527:P476S	P	+	1	0	INF2	104250970	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.256000	0.18351	0.765000	0.33221	0.462000	0.41574	CCA	INF2	-	NULL		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	C	NM_022489		105179925	1	no_errors	ENST00000392634	ensembl	human	known	70_37	missense	SNP	0.001	T	T	105179925	C	T	105179925	3	4	65	1	0	0	0	0	1	0	0	0	7754	623	22	4	3100	4	INF2	14	105179925	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	40716100	105179925	2169615	80	10032										
HERC2	8924	genome.wustl.edu	37	chr15	28437168	28437168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cgtcaatgagacgggatgccTggttcacggaggacgacaca	14	10	2	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:28437168T>C	ENST00000261609.7	-	53	8498	c.8390A>G	c.(8389-8391)cAg>cGg	p.Q2797R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCCTGGTTCACGGA	0.597											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135	121	125					15																	28437168		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8390A>G	15.37:g.28437168T>C	ENSP00000261609:p.Gln2797Arg	801		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q2797R	ENST00000261609.7	37	c.8390	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797688	0.70567	.	.	ENSG00000128731	ENST00000261609	T	0.63580	-0.05	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.057307	0.64402	D	0.000001	T	0.53722	0.1814	N	0.20574	0.59	0.80722	D	1	P;P	0.48589	0.912;0.884	B;P	0.46110	0.334;0.504	T	0.56571	-0.7957	10	0.41790	T	0.15	.	15.9236	0.79592	0.0:0.0:0.0:1.0	.	264;2797	A8KAQ8;O95714	.;HERC2_HUMAN	R	2797	ENSP00000261609:Q2797R	ENSP00000261609:Q2797R	Q	-	2	0	HERC2	26110763	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.949000	0.87791	2.219000	0.72066	0.472000	0.43445	CAG	HERC2	-	superfamily_Galactose-bd-like		0.597	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28437168	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28437168	T	C	28437168	3	2	65	1	0	0	0	0	1	0	0	0	7078	1580	55	5	6278	5	HERC2	15	28437168	Missense_Mutation	SNP	T	TCGA-DS-A5RQ-01A-11D-A28B-09		28437168	74094224	81	10033										
CYP19A1	1588	genome.wustl.edu	37	chr15	51503070	51503070	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttccagcatgtttttagtctCatctgggtgcaaggacaagt	10	8	2	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:51503070C>T	ENST00000396402.1	-	10	1600	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	CYP19A1_ENST00000559878.1_Missense_Mutation_p.E483K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E483K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E483K	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	483					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TTTTTAGTCTCATCTGGGTGC	0.463																																					Melanoma(142;1016 1807 39614 48966 51721)												0													247	215	226					15																	51503070		2196	4293	6489	SO:0001583	missense	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1447G>A	15.37:g.51503070C>T	ENSP00000379683:p.Glu483Lys		Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E483K	ENST00000396402.1	37	c.1447	CCDS10139.1	15	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651639	0.47362	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.66995	-0.24;-0.24;-0.24	5.46	4.54	0.55810	.	0.043384	0.85682	D	0.000000	T	0.74861	0.3772	M	0.80508	2.5	0.80722	D	1	B	0.24368	0.102	B	0.37015	0.239	T	0.76586	-0.2905	10	0.87932	D	0	-16.5414	16.6992	0.85344	0.0:0.8704:0.1296:0.0	.	483	P11511	CP19A_HUMAN	K	483	ENSP00000379683:E483K;ENSP00000260433:E483K;ENSP00000379685:E483K	ENSP00000260433:E483K	E	-	1	0	CYP19A1	49290362	1.000000	0.71417	0.249000	0.24280	0.016000	0.09150	4.626000	0.61269	1.440000	0.47531	-0.150000	0.13652	GAG	CYP19A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.463	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP19A1	HGNC	protein_coding	OTTHUMT00000254669.1	C			51503070	-1	no_errors	ENST00000260433	ensembl	human	known	70_37	missense	SNP	0.996	T	T	51503070	C	T	51503070	3	4	65	1	0	0	0	0	1	0	0	0	4153	835	29	1	68	1	CYP19A1	15	51503070	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	23065902	51503070	51028322	82	10034										
MAPK6	5597	genome.wustl.edu	37	chr15	52356491	52356491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agaacaaagcaaagaaaaatCtgataagaaaggcaaatcaa	7	5	2	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:52356491C>T	ENST00000261845.5	+	6	2267	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	487					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AAAGAAAAATCTGATAAGAAA	0.368																																																	0													30	30	30					15																	52356491		2194	4290	6484	SO:0001583	missense	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1460C>T	15.37:g.52356491C>T	ENSP00000261845:p.Ser487Phe		B2R945|B5BU65|Q68DH4|Q8IYN8	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,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom	p.S487F	ENST00000261845.5	37	c.1460	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049470	0.19827	.	.	ENSG00000069956	ENST00000261845	T	0.43688	0.94	5.41	4.48	0.54585	.	0.286026	0.41194	D	0.000937	T	0.23014	0.0556	N	0.03608	-0.345	0.41414	D	0.98775	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.72032	D	0.01	-1.8582	14.6771	0.68989	0.0:0.9288:0.0:0.0712	.	487	Q16659	MK06_HUMAN	F	487	ENSP00000261845:S487F	ENSP00000261845:S487F	S	+	2	0	MAPK6	50143783	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.926000	0.48892	2.606000	0.88127	0.638000	0.83543	TCT	MAPK6	-	NULL		0.368	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	C	NM_002748		52356491	1	no_errors	ENST00000261845	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52356491	C	T	52356491	3	4	65	1	0	0	0	0	1	0	0	0	9304	913	32	1	1478	1	MAPK6	15	52356491	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	853421	52356491	50174901	83	10035										
WDR90	197335	genome.wustl.edu	37	chr16	709007	709007	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gggatgtcctggcccctactGagaggcaagtgcctactctc	12	13	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:709007G>A	ENST00000293879.4	+	24	3007	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.E1003K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1003										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCCTACTGAGAGGCAAGT	0.657																																																	0													79	97	91					16																	709007		2097	4212	6309	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3007G>A	16.37:g.709007G>A	ENSP00000293879:p.Glu1003Lys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1003K	ENST00000293879.4	37	c.3007	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	G	7.478	0.647997	0.14516	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.28454	1.61;3.65	4.79	2.8	0.32819	.	8.188700	0.01542	U	0.019280	T	0.41282	0.1152	L	0.53729	1.69	0.21290	N	0.999735	D;P	0.60575	0.988;0.546	P;B	0.53861	0.736;0.147	T	0.14364	-1.0475	10	0.17832	T	0.49	.	5.7983	0.18399	0.0779:0.1367:0.6441:0.1413	.	1003;1003	F8VUX9;Q96KV7	.;WDR90_HUMAN	K	1003	ENSP00000448122:E1003K;ENSP00000293879:E1003K	ENSP00000293879:E1003K	E	+	1	0	WDR90	649008	.	.	0.010000	0.14722	0.003000	0.03518	.	.	0.433000	0.26313	-0.895000	0.02911	GAG	WDR90	-	NULL		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		709007	1	no_errors	ENST00000549091	ensembl	human	novel	70_37	missense	SNP	0.108	A	A	709007	G	A	709007	3	1	65	1	0	0	0	0	1	0	0	0	17368	1291	45	1	3101	1	WDR90	16	709007	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		709007	89645746	84	10036										
ADCY9	115	genome.wustl.edu	37	chr16	4043460	4043460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gttttgaggtgctcctccctCggcgccggcttcagatttgg	13	12	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:4043460C>T	ENST00000294016.3	-	4	2474	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	646					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTCCTCCCTCGGCGCCGGCT	0.547																																																	0													165	150	156					16																	4043460		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1936G>A	16.37:g.4043460C>T	ENSP00000294016:p.Glu646Lys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E646K	ENST00000294016.3	37	c.1936	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866804	0.72065	.	.	ENSG00000162104	ENST00000294016	D	0.83673	-1.75	5.36	5.36	0.76844	.	0.210265	0.41938	D	0.000781	T	0.72431	0.3459	L	0.40543	1.245	0.45979	D	0.998796	P	0.49358	0.923	B	0.32583	0.148	T	0.72849	-0.4168	10	0.17832	T	0.49	.	17.2861	0.87142	0.0:1.0:0.0:0.0	.	646	O60503	ADCY9_HUMAN	K	646	ENSP00000294016:E646K	ENSP00000294016:E646K	E	-	1	0	ADCY9	3983461	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.638000	0.61353	2.514000	0.84764	0.544000	0.68410	GAG	ADCY9	-	NULL		0.547	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4043460	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4043460	C	T	4043460	3	4	65	1	0	0	0	0	1	0	0	0	301	893	31	1	2157	1	ADCY9	16	4043460	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	3334453	4043460	86311293	85	10037										
ACSM2B	348158	genome.wustl.edu	37	chr16	20548639	20548639	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gtctcgaagtttggttcgttGaattttccctgtgacagtct	10	8	2	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:20548639G>A	ENST00000329697.6	-	14	1843	c.1675C>T	c.(1675-1677)Caa>Taa	p.Q559*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.Q559*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.Q480*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.Q559*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	559					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTGGTTCGTTGAATTTTCCCT	0.478																																																	0													252	232	238					16																	20548639		2202	4300	6502	SO:0001587	stop_gained	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1675C>T	16.37:g.20548639G>A	ENSP00000327453:p.Gln559*		Q86YT1	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q559*	ENST00000329697.6	37	c.1675	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055779	0.01965	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.09	-4.05	0.03998	.	1.015480	0.07922	N	0.976046	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.1171	3.092	0.06297	0.1722:0.3694:0.3399:0.1184	.	.	.	.	X	559	.	ENSP00000327453:Q559X	Q	-	1	0	ACSM2B	20456140	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.090000	0.03372	-1.025000	0.03334	-0.225000	0.12378	CAA	ACSM2B	-	NULL		0.478	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	G	NM_182617		20548639	-1	no_errors	ENST00000329697	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	20548639	G	A	20548639	4	1	65	1	0	0	0	0	0	1	0	0	184	1299	45	1	62	1	ACSM2B	16	20548639	Nonsense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	16505179	20548639	69806114	86	10038										
CHST5	23563	genome.wustl.edu	37	chr16	75564065	75564065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ggcccaagaaggatgagcccGagcgccacgaggacagcacc	14	14	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:75564065G>A	ENST00000336257.3	-	3	1612	c.218C>T	c.(217-219)tCg>tTg	p.S73L	CHST5_ENST00000541075.1_Missense_Mutation_p.S79L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	73					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGATGAGCCCGAGCGCCACGA	0.667																																																	0													44	39	40					16																	75564065		2198	4300	6498	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.218C>T	16.37:g.75564065G>A	ENSP00000338783:p.Ser73Leu		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.S79L	ENST00000336257.3	37	c.236	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869954	0.51588	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.39406	1.08;1.08	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74441	-0.3664	10	0.66056	D	0.02	.	12.3965	0.55389	0.0:0.0:1.0:0.0	.	79;73	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	L	73;79	ENSP00000338783:S73L;ENSP00000441220:S79L	ENSP00000338783:S73L	S	-	2	0	CHST5	74121566	1.000000	0.71417	0.996000	0.52242	0.033000	0.12548	9.258000	0.95555	1.514000	0.48869	0.313000	0.20887	TCG	CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.667	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	G	NM_012126		75564065	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75564065	G	A	75564065	3	1	65	1	0	0	0	0	1	0	0	0	3412	1059	37	1	1021	1	CHST5	16	75564065	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	55015426	75564065	14790688	87	10039										
BANP	54971	genome.wustl.edu	37	chr16	88110231	88110231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cagcccacgctacagccggaGatgcagctcgagcacggggc	14	15	0	1	rs371858006		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:88110231G>A	ENST00000393207.1	+	14	1745	c.1524G>A	c.(1522-1524)gaG>gaA	p.E508E	BANP_ENST00000393208.2_Silent_p.E480E|BANP_ENST00000355163.5_Silent_p.E486E|BANP_ENST00000479780.2_Silent_p.E455E|BANP_ENST00000481948.1_3'UTR|BANP_ENST00000286122.7_Silent_p.E508E|BANP_ENST00000355022.4_Silent_p.E458E|BANP_ENST00000538234.1_Silent_p.E497E|RP11-863P13.5_ENST00000568267.1_lincRNA	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	508					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TACAGCCGGAGATGCAGCTCG	0.662																																																	0													39	41	40					16																	88110231		2195	4299	6494	SO:0001819	synonymous_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1524G>A	16.37:g.88110231G>A			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	pfam_BEN_domain	p.E508	ENST00000393207.1	37	c.1524	CCDS54054.1	16																																																																																			BANP	-	NULL		0.662	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	G	NM_017869		88110231	1	no_errors	ENST00000286122	ensembl	human	known	70_37	silent	SNP	0.858	A	A	88110231	G	A	88110231	2	1	65	1	0	0	0	0	0	0	0	1	1311	933	33	1		1	BANP	16	88110231	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	12546166	88110231	2244522	88	10040										
CPNE7	27132	genome.wustl.edu	37	chr16	89650445	89650445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ccccctgccaggtgatcgccGaggacatctcggggaacaac	12	15	1	1	rs369886930		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:89650445G>A	ENST00000268720.5	+	6	797	c.667G>A	c.(667-669)Gag>Aag	p.E223K	CPNE7_ENST00000319518.8_Missense_Mutation_p.E148K	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	223					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGATCGCCGAGGACATCTC	0.706																																																	0								G	LYS/GLU,LYS/GLU	0,4392		0,0,2196	47	45	46		667,442	2.3	0.7	16		46	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	56,56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	223/634,148/559	89650445	1,12991	2196	4300	6496	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.667G>A	16.37:g.89650445G>A	ENSP00000268720:p.Glu223Lys			Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.E223K	ENST00000268720.5	37	c.667	CCDS10980.1	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182113	0.78677	0.0	1.16E-4	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.17691	2.26;2.26	3.32	2.34	0.29019	C2 calcium-dependent membrane targeting (1);	0.318435	0.33875	N	0.004478	T	0.33352	0.0860	M	0.72479	2.2	0.45330	D	0.998327	D;D	0.76494	0.969;0.999	P;P	0.60609	0.572;0.877	T	0.09271	-1.0682	10	0.87932	D	0	-24.8168	10.0347	0.42122	0.1062:0.0:0.8938:0.0	.	148;223	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	K	148;223	ENSP00000317374:E148K;ENSP00000268720:E223K	ENSP00000268720:E223K	E	+	1	0	CPNE7	88177946	1.000000	0.71417	0.694000	0.30210	0.600000	0.36913	4.604000	0.61112	0.714000	0.32081	0.491000	0.48974	GAG	CPNE7	-	smart_C2_Ca-dep		0.706	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	G			89650445	1	no_errors	ENST00000268720	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89650445	G	A	89650445	3	1	65	1	0	0	0	0	1	0	0	0	3822	1059	37	1	689	1	CPNE7	16	89650445	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	1540214	89650445	704308	89	10041										
CACNB1	782	genome.wustl.edu	37	chr17	37353713	37353713	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gggatctcctgggagggtggGtaagggccccgggacatgct	19	9	1	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:37353713G>T	ENST00000394303.3	-	1	243	c.36C>A	c.(34-36)taC>taA	p.Y12*	RPL19_ENST00000579260.1_5'Flank|RPL19_ENST00000582193.1_5'Flank|CACNB1_ENST00000344140.5_Nonsense_Mutation_p.Y12*|CACNB1_ENST00000582877.1_5'Flank|RPL19_ENST00000579374.1_5'Flank|CACNB1_ENST00000394310.3_Nonsense_Mutation_p.Y12*|RPL19_ENST00000225430.4_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	12					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAGGGTGGGTAAGGGCCCC	0.736																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													14	13	13					17																	37353713		2148	4225	6373	SO:0001587	stop_gained	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.36C>A	17.37:g.37353713G>T	ENSP00000377840:p.Tyr12*		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.Y12*	ENST00000394303.3	37	c.36	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	g	37	6.508812	0.97624	.	.	ENSG00000067191	ENST00000394303;ENST00000344140;ENST00000394310	.	.	.	4.62	1.24	0.21308	.	0.517985	0.18261	N	0.146620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9559	4.8342	0.13456	0.2091:0.0:0.6152:0.1757	.	.	.	.	X	12	.	ENSP00000345461:Y12X	Y	-	3	2	CACNB1	34607239	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.142000	0.50601	0.517000	0.28361	-0.224000	0.12420	TAC	CACNB1	-	prints_VDCC_L_b1su		0.736	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	G			37353713	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	37353713	G	T	37353713	4	4	65	1	0	0	0	0	0	1	0	0	2557	1256	44	4	2080	4	CACNB1	17	37353713	Nonsense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		37353713	43841497	90	10042										
ETV4	2118	genome.wustl.edu	37	chr17	41610668	41610668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aggggcgactgtccaagggcAccaggggcaggggacttgat	18	9	0	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:41610668A>G	ENST00000319349.5	-	7	730	c.432T>C	c.(430-432)ggT>ggC	p.G144G	ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Silent_p.G144G|ETV4_ENST00000545954.1_Silent_p.G105G|ETV4_ENST00000393664.2_Silent_p.G144G|ETV4_ENST00000538265.1_Silent_p.G105G|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	144					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GTCCAAGGGCACCAGGGGCAG	0.622			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0													43	45	44					17																	41610668		2203	4300	6503	SO:0001819	synonymous_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.432T>C	17.37:g.41610668A>G			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.G144	ENST00000319349.5	37	c.432	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N		0.622	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	A	NM_001986		41610668	-1	no_errors	ENST00000319349	ensembl	human	known	70_37	silent	SNP	0.894	G	G	41610668	A	G	41610668	2	3	65	1	0	0	0	0	0	0	0	1	5293	146	6	5		5	ETV4	17	41610668	Silent	SNP	A	TCGA-DS-A5RQ-01A-11D-A28B-09	4256955	41610668	39584542	91	10043										
UBE2Z	65264	genome.wustl.edu	37	chr17	46998528	46998528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctgttacattataggagagaCatccaggagacagcaaaaac	9	8	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:46998528C>T	ENST00000360943.5	+	5	832	c.697C>T	c.(697-699)Cat>Tat	p.H233Y		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	233					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										ATAGGAGAGACATCCAGGAGA	0.428																																																	0													82	68	73					17																	46998528		2203	4300	6503	SO:0001583	missense	65264			BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"Ubiquitin-conjugating enzymes E2"	25847	protein-coding gene	gene with protein product	"UBA6-specific enzyme E2"	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.697C>T	17.37:g.46998528C>T	ENSP00000354201:p.His233Tyr		A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.H233Y	ENST00000360943.5	37	c.697	CCDS11540.2	17	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570470	0.65765	.	.	ENSG00000159202	ENST00000360943;ENST00000405215;ENST00000508468	T;T	0.71461	-0.57;-0.57	4.98	4.98	0.66077	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.00569	-1.365	0.58432	D	0.999999	P	0.34934	0.476	B	0.29176	0.099	T	0.50516	-0.8819	10	0.17369	T	0.5	-16.242	16.5514	0.84473	0.0:1.0:0.0:0.0	.	233	Q9H832	UBE2Z_HUMAN	Y	233;166;146	ENSP00000354201:H233Y;ENSP00000424543:H146Y	ENSP00000354201:H233Y	H	+	1	0	UBE2Z	44353527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.535000	0.82014	2.745000	0.94114	0.655000	0.94253	CAT	UBE2Z	-	superfamily_UBQ-conjugating_enzyme/RWD		0.428	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Z	HGNC	protein_coding	OTTHUMT00000318724.2	C	NM_023079		46998528	1	no_errors	ENST00000360943	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46998528	C	T	46998528	3	4	65	1	0	0	0	0	1	0	0	0	16909	478	17	4	715	4	UBE2Z	17	46998528	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	5387860	46998528	34196682	92	10044										
GPR142	350383	genome.wustl.edu	37	chr17	72368270	72368270	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gagagacaccgactcacccaGaacactggacgaggtcctca	10	14	2	2	rs202167160	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:72368270G>C	ENST00000335666.4	+	4	968	c.920G>C	c.(919-921)aGa>aCa	p.R307T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	307						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GACTCACCCAGAACACTGGAC	0.597																																																	0													153	114	127					17																	72368270		2203	4300	6503	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.920G>C	17.37:g.72368270G>C	ENSP00000335158:p.Arg307Thr		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R307T	ENST00000335666.4	37	c.920	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376096	0.01214	.	.	ENSG00000257008	ENST00000335666	T	0.71341	-0.56	4.62	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.208121	0.49916	D	0.000125	T	0.34279	0.0892	N	0.01048	-1.04	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24012	-1.0172	10	0.10111	T	0.7	-24.3051	8.4255	0.32727	0.0902:0.2068:0.703:0.0	.	307;1269	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	307	ENSP00000335158:R307T	ENSP00000335158:R307T	R	+	2	0	GPR142	69879865	0.519000	0.26242	0.913000	0.36048	0.017000	0.09413	2.631000	0.46502	2.524000	0.85096	0.556000	0.70494	AGA	GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	G	NM_181790		72368270	1	no_errors	ENST00000335666	ensembl	human	known	70_37	missense	SNP	0.841	C	C	72368270	G	C	72368270	3	2	65	1	0	0	0	0	1	0	0	0	6669	942	33	1	934	1	GPR142	17	72368270	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	25369742	72368270	8826940	93	10045										
ANKRD24	170961	genome.wustl.edu	37	chr19	4222693	4222693	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gaactctccaaagaagtcttCaatcttaaggaagccttgaa	7	9	4	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:4222693C>T	ENST00000600132.1	+	20	3474	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	ANKRD24_ENST00000262970.5_Silent_p.F1156F|ANKRD24_ENST00000318934.4_Silent_p.F1066F	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1066										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGAAGTCTTCAATCTTAAGG	0.602																																																	0													30	31	31					19																	4222693		1928	4131	6059	SO:0001819	synonymous_variant	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3198C>T	19.37:g.4222693C>T			O75268|O95781	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F1066	ENST00000600132.1	37	c.3198	CCDS45925.1	19																																																																																			ANKRD24	-	NULL		0.602	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	C	XM_114000		4222693	1	no_errors	ENST00000318934	ensembl	human	known	70_37	silent	SNP	0.809	T	T	4222693	C	T	4222693	2	4	65	1	0	0	0	0	0	0	0	1	653	825	29	1		1	ANKRD24	19	4222693	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		4222693	54906290	94	10046										
OR7G1	125962	genome.wustl.edu	37	chr19	9225565	9225565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tcttcatctccttatttctcAggctgtagatgaaggggttc	9	9	4	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:9225565A>G	ENST00000541538.1	-	1	874	c.875T>C	c.(874-876)cTg>cCg	p.L292P	OR7G1_ENST00000293614.1_Missense_Mutation_p.L292P	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTTATTTCTCAGGCTGTAGAT	0.418																																																	0													120	109	112					19																	9225565		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.875T>C	19.37:g.9225565A>G	ENSP00000444134:p.Leu292Pro		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L292P	ENST00000541538.1	37	c.875	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	a	13.01	2.109647	0.37242	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	.	0.289697	0.18665	U	0.134619	T	0.80476	0.4630	H	0.99732	4.735	0.49051	D	0.999743	D	0.89917	1.0	D	0.76575	0.988	D	0.84442	0.0583	10	0.87932	D	0	.	8.6944	0.34287	0.8075:0.1925:0.0:0.0	.	292	Q8NGA0	OR7G1_HUMAN	P	292	ENSP00000293614:L292P;ENSP00000444134:L292P	ENSP00000293614:L292P	L	-	2	0	OR7G1	9086565	0.860000	0.29831	1.000000	0.80357	0.213000	0.24496	7.859000	0.86982	1.700000	0.51204	0.410000	0.27636	CTG	OR7G1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	A			9225565	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9225565	A	G	9225565	3	3	65	1	0	0	0	0	1	0	0	0	11246	188	7	5	134	5	OR7G1	19	9225565	Missense_Mutation	SNP	A	TCGA-DS-A5RQ-01A-11D-A28B-09	5002872	9225565	49903418	95	10047										
CD97	976	genome.wustl.edu	37	chr19	14513542	14513542	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agcatccgtggtgtccaactCagacgcctctctgccgtcaa	9	15	3	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:14513542C>T	ENST00000242786.5	+	12	1397	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	CD97_ENST00000357355.3_Silent_p.L390L|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L346L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	439					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTGTCCAACTCAGACGCCTCT	0.527																																																	0													202	167	179					19																	14513542		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1317C>T	19.37:g.14513542C>T			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L439	ENST00000242786.5	37	c.1317	CCDS32929.1	19																																																																																			CD97	-	prints_GPCR_2_CD97		0.527	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14513542	1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.000	T	T	14513542	C	T	14513542	2	4	65	1	0	0	0	0	0	0	0	1	3054	813	29	1		1	CD97	19	14513542	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	5287977	14513542	44615441	96	10048										
CA11	770	genome.wustl.edu	37	chr19	49142303	49142303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tctggctcaggagtctcaggGagtgcatctgcagtggaagg	16	8	4	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:49142303G>A	ENST00000084798.4	-	8	1482	c.803C>T	c.(802-804)tCc>tTc	p.S268F	DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	268						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAGTCTCAGGGAGTGCATCTG	0.622																																																	0													37	35	35					19																	49142303		2203	4300	6503	SO:0001583	missense	770			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.803C>T	19.37:g.49142303G>A	ENSP00000084798:p.Ser268Phe		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S268F	ENST00000084798.4	37	c.803	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520132	0.64747	.	.	ENSG00000063180	ENST00000084798	T	0.67865	-0.29	3.17	2.13	0.27403	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.070236	0.64402	D	0.000016	T	0.76955	0.4060	M	0.70595	2.14	0.46376	D	0.999013	D	0.89917	1.0	D	0.85130	0.997	T	0.76828	-0.2815	10	0.72032	D	0.01	.	8.5335	0.33349	0.122:0.0:0.878:0.0	.	268	O75493	CAH11_HUMAN	F	268	ENSP00000084798:S268F	ENSP00000084798:S268F	S	-	2	0	CA11	53834115	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.364000	0.90105	0.902000	0.36520	-0.259000	0.10710	TCC	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.622	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	G	NM_001217		49142303	-1	no_errors	ENST00000084798	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49142303	G	A	49142303	3	1	65	1	0	0	0	0	1	0	0	0	2517	1174	41	1	191	1	CA11	19	49142303	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	34628761	49142303	9986680	97	10049										
SIGLEC12	89858	genome.wustl.edu	37	chr19	52002702	52002702	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cagaactcacaggatatgttGagtcggacagccctggtcat	11	10	2	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:52002702G>A	ENST00000291707.3	-	3	1132	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	SIGLEC12_ENST00000598614.1_Silent_p.L241L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	359					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGATATGTTGAGTCGGACAG	0.607																																																	0													51	48	49					19																	52002702		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1077C>T	19.37:g.52002702G>A			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L359	ENST00000291707.3	37	c.1077	CCDS12833.1	19																																																																																			SIGLEC12	-	smart_Ig_sub		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	G	NM_053003		52002702	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	silent	SNP	0.061	A	A	52002702	G	A	52002702	2	1	65	1	0	0	0	0	0	0	0	1	14338	1277	45	1		1	SIGLEC12	19	52002702	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	2860399	52002702	7126281	98	10050										
SIGLEC12	89858	genome.wustl.edu	37	chr19	52002798	52002798	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tggggctgtgggatgaggctGagcatcgaggagcgagtgat	20	5	0	3			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:52002798G>C	ENST00000291707.3	-	3	1036	c.981C>G	c.(979-981)ctC>ctG	p.L327L	SIGLEC12_ENST00000598614.1_Silent_p.L209L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	327	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGATGAGGCTGAGCATCGAGG	0.662																																																	0													66	54	58					19																	52002798		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.981C>G	19.37:g.52002798G>C			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L327	ENST00000291707.3	37	c.981	CCDS12833.1	19																																																																																			SIGLEC12	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.662	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	G	NM_053003		52002798	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	silent	SNP	0.007	C	C	52002798	G	C	52002798	2	2	65	1	0	0	0	0	0	0	0	1	14338	1277	45	1		1	SIGLEC12	19	52002798	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	96	52002798	7126185	99	10051										
LILRA3	11026	genome.wustl.edu	37	chr19	54802507	54802507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gatcaggatgtccagggggtCgctgggggccgaccactcgg	18	11	1	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:54802507C>T	ENST00000251390.3	-	5	1025	c.934G>A	c.(934-936)Gac>Aac	p.D312N	LILRA3_ENST00000391745.1_Missense_Mutation_p.D329N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D248N	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	312	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGGGGGTCGCTGGGGGCC	0.672																																																	0													24	28	27					19																	54802507		2190	4163	6353	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.934G>A	19.37:g.54802507C>T	ENSP00000251390:p.Asp312Asn		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.D312N	ENST00000251390.3	37	c.934	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	c	13.29	2.192935	0.38707	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00873	5.59;5.59;5.59	2.21	-1.41	0.08941	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.846370	0.03220	N	0.177389	T	0.05273	0.0140	M	0.83312	2.635	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.974;0.996	T	0.28364	-1.0046	10	0.59425	D	0.04	.	5.2061	0.15291	0.0:0.5322:0.0:0.4678	.	312;312	E7EU74;Q8N6C8	.;LIRA3_HUMAN	N	312;248;329	ENSP00000251390:D312N;ENSP00000375624:D248N;ENSP00000375625:D329N	ENSP00000251390:D312N	D	-	1	0	LILRA3	59494319	0.001000	0.12720	0.031000	0.17742	0.028000	0.11728	0.127000	0.15790	-0.192000	0.10432	-0.192000	0.12808	GAC	LILRA3	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.672	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	C			54802507	-1	no_errors	ENST00000251390	ensembl	human	known	70_37	missense	SNP	0.038	T	T	54802507	C	T	54802507	3	4	65	1	0	0	0	0	1	0	0	0	8806	884	31	1	397	1	LILRA3	19	54802507	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	2799709	54802507	4326476	100	10052										
DYNLRB1	83658	genome.wustl.edu	37	chr20	33128394	33128394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ctcttttgcagataaagactAtttcctgattgtgattcaga	7	7	2	5			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr20:33128394A>G	ENST00000357156.2	+	4	307	c.257A>G	c.(256-258)tAt>tGt	p.Y86C	DYNLRB1_ENST00000374846.3_Missense_Mutation_p.Y138C|DYNLRB1_ENST00000480759.1_3'UTR	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	86					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						GATAAAGACTATTTCCTGATT	0.333																																																	0													85	78	81					20																	33128394		2203	4300	6503	SO:0001583	missense	83658			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.257A>G	20.37:g.33128394A>G	ENSP00000349679:p.Tyr86Cys		B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type	p.Y86C	ENST00000357156.2	37	c.257	CCDS13235.1	20	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314669	0.81358	.	.	ENSG00000125971	ENST00000357156;ENST00000374846	T;T	0.26810	1.71;1.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	T	0.54268	-0.8319	9	0.87932	D	0	-4.5013	15.7101	0.77620	1.0:0.0:0.0:0.0	.	86	Q9NP97	DLRB1_HUMAN	C	86;138	ENSP00000349679:Y86C;ENSP00000363979:Y138C	ENSP00000349679:Y86C	Y	+	2	0	DYNLRB1	32592055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.550000	0.73905	2.183000	0.69458	0.533000	0.62120	TAT	DYNLRB1	-	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type		0.333	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	A	NM_014183		33128394	1	no_errors	ENST00000357156	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33128394	A	G	33128394	3	3	65	1	0	0	0	0	1	0	0	0	4860	449	16	5	271	5	DYNLRB1	20	33128394	Missense_Mutation	SNP	A	TCGA-DS-A5RQ-01A-11D-A28B-09		33128394	29897126	101	10053										
LAMA5	3911	genome.wustl.edu	37	chr20	60909651	60909651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cggttcacagctctggcccaGtgcaccgccaatgtcacacc	9	17	3	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr20:60909651G>T	ENST00000252999.3	-	21	2575	c.2509C>A	c.(2509-2511)Ctg>Atg	p.L837M	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	837	Laminin EGF-like 11; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCTGGCCCAGTGCACCGCCA	0.701																																																	0													5	5	5					20																	60909651		1879	3617	5496	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2509C>A	20.37:g.60909651G>T	ENSP00000252999:p.Leu837Met		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.L837M	ENST00000252999.3	37	c.2509	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	11.93	1.784914	0.31593	.	.	ENSG00000130702	ENST00000252999	T	0.56941	0.43	4.79	4.79	0.61399	EGF-like, laminin (3);	0.452591	0.22239	N	0.062705	T	0.69187	0.3083	M	0.81802	2.56	0.54753	D	0.999981	D	0.69078	0.997	D	0.68621	0.959	T	0.67217	-0.5726	10	0.22109	T	0.4	.	11.776	0.51985	0.0:0.0:0.6917:0.3083	.	837	O15230	LAMA5_HUMAN	M	837	ENSP00000252999:L837M	ENSP00000252999:L837M	L	-	1	2	LAMA5	60343046	0.011000	0.17503	0.819000	0.32651	0.009000	0.06853	1.161000	0.31773	2.206000	0.71126	0.556000	0.70494	CTG	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60909651	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.642	T	T	60909651	G	T	60909651	3	4	65	1	0	0	0	0	1	0	0	0	8629	1020	36	4	8818	4	LAMA5	20	60909651	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	27781257	60909651	2115869	102	10054										
DIDO1	11083	genome.wustl.edu	37	chr20	61510621	61510621	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gtgccagcgtcggaggccctCgaggcctcgggcttcgggtc	17	14	0	0	rs372132324		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr20:61510621C>T	ENST00000266070.4	-	16	7012	c.6687G>A	c.(6685-6687)tcG>tcA	p.S2229S	DIDO1_ENST00000395343.1_Silent_p.S2229S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2229					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGAGGCCCTCGAGGCCTCGG	0.662																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													8	7	7					20																	61510621		2142	4201	6343	SO:0001819	synonymous_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6687G>A	20.37:g.61510621C>T			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.S2229	ENST00000266070.4	37	c.6687	CCDS33506.1	20																																																																																			DIDO1	-	NULL		0.662	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61510621	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	silent	SNP	0.000	T	T	61510621	C	T	61510621	2	4	65	1	0	0	0	0	0	0	0	1	4532	871	31	1		1	DIDO1	20	61510621	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	600970	61510621	1514899	103	10055										
HLCS	3141	genome.wustl.edu	37	chr21	38128952	38128952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gactctggcgatgagataatCggctcttaagggcttcagtt	12	8	3	1	rs149399432		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr21:38128952C>T	ENST00000399120.1	-	11	3130	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	HLCS_ENST00000336648.4_Missense_Mutation_p.D634N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	634	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.		D -> N (in HLCS deficiency; dbSNP:rs149399432). {ECO:0000269|PubMed:12633764}.|D -> Y (in HLCS deficiency; 12% activity). {ECO:0000269|PubMed:11735028}.		biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ATGAGATAATCGGCTCTTAAG	0.453													C|||	1	0.000199681	0	0	5008	,	,		17685	0		0	False		,,,				2504	0.001																0			GRCh37	CM013743|CM032941	HLCS	M	rs149399432	C	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	260	220	234		1900,1900,1900	4.7	0	21	dbSNP_134	234	0,8600		0,0,4300	no	missense,missense,missense	HLCS	NM_000411.6,NM_001242784.1,NM_001242785.1	23,23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	634/727,634/727,634/727	38128952	1,13005	2203	4300	6503	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1900G>A	21.37:g.38128952C>T	ENSP00000382071:p.Asp634Asn		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.D634N	ENST00000399120.1	37	c.1900	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722099	0.48728	2.27E-4	0.0	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.96685	-4.09;-4.09	4.74	4.74	0.60224	.	0.188599	0.43416	D	0.000579	D	0.97670	0.9236	M	0.73962	2.25	0.30509	N	0.769575	D	0.89917	1.0	D	0.64144	0.922	D	0.96007	0.8998	10	0.62326	D	0.03	.	17.7435	0.88413	0.0:1.0:0.0:0.0	.	634	P50747	BPL1_HUMAN	N	634	ENSP00000382071:D634N;ENSP00000338387:D634N	ENSP00000338387:D634N	D	-	1	0	HLCS	37050822	0.996000	0.38824	0.021000	0.16686	0.061000	0.15899	4.089000	0.57685	2.163000	0.67991	0.561000	0.74099	GAT	HLCS	-	tigrfam_Biotin_CoA_COase_ligase		0.453	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	C			38128952	-1	no_errors	ENST00000336648	ensembl	human	known	70_37	missense	SNP	0.318	T	T	38128952	C	T	38128952	3	4	65	1	0	0	0	0	1	0	0	0	7233	884	31	1	288	1	HLCS	21	38128952	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		38128952	10000943	104	10056										
TRAPPC10	7109	genome.wustl.edu	37	chr21	45499971	45499971	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cgcaagcacttctgccaggaGatacttgactttgccagcca	9	13	1	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr21:45499971G>A	ENST00000291574.4	+	13	1861	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	562					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCTGCCAGGAGATACTTGACT	0.493																																																	0													62	52	56					21																	45499971		2203	4300	6503	SO:0001819	synonymous_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1686G>A	21.37:g.45499971G>A			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	NULL	p.E562	ENST00000291574.4	37	c.1686	CCDS13704.1	21																																																																																			TRAPPC10	-	NULL		0.493	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	G	NM_003274		45499971	1	no_errors	ENST00000291574	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45499971	G	A	45499971	2	1	65	1	0	0	0	0	0	0	0	1	16488	933	33	1		1	TRAPPC10	21	45499971	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	7371019	45499971	2629924	105	10057										
C21orf29	54084	genome.wustl.edu	37	chr21	45953680	45953680	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	cgggctgcggaaggacactcGggtctgccaggcgccggccg	18	14	1	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr21:45953680G>A	ENST00000323084.4	-	3	495	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TSPEAR_ENST00000397916.1_Nonsense_Mutation_p.R76*	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	144	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AAGGACACTCGGGTCTGCCAG	0.692																																																	0													30	31	30					21																	45953680		2197	4288	6485	SO:0001587	stop_gained	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.430C>T	21.37:g.45953680G>A	ENSP00000321987:p.Arg144*			Nonsense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.R144*	ENST00000323084.4	37	c.430	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	g	25.7	4.664979	0.88251	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	.	.	.	4.9	4.9	0.64082	.	0.266911	0.35739	N	0.003002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4229	13.0983	0.59206	0.0:0.0:0.8395:0.1605	.	.	.	.	X	144;76;144	.	ENSP00000321987:R144X	R	-	1	2	TSPEAR	44778108	1.000000	0.71417	0.751000	0.31187	0.350000	0.29205	2.326000	0.43849	2.254000	0.74563	0.650000	0.86243	CGA	TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	G	NM_144991		45953680	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	nonsense	SNP	0.101	A	A	45953680	G	A	45953680	4	1	65	1	0	0	0	0	0	1	0	0	2129	1124	39	2	1619	2	C21orf29	21	45953680	Nonsense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	453709	45953680	2176215	106	10058										
P2RX6	9127	genome.wustl.edu	37	chr22	21377259	21377259	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	acaggccagtgtgtggtgttCaatgggacccacaggacctg	14	10	1	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:21377259C>G	ENST00000413302.2	+	5	640	c.492C>G	c.(490-492)ttC>ttG	p.F164L	P2RX6_ENST00000401443.1_Missense_Mutation_p.F138L|P2RX6_ENST00000336296.2_Missense_Mutation_p.F154L|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.F111L			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	164					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										GTGTGGTGTTCAATGGGACCC	0.562																																																	0													156	157	156					22																	21377259		2203	4300	6503	SO:0001583	missense	9127				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.492C>G	22.37:g.21377259C>G	ENSP00000416193:p.Phe164Leu		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.F164L	ENST00000413302.2	37	c.492	CCDS13788.2	22	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445462	0.63178	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.23	1.47	0.22746	.	0.104245	0.42682	D	0.000670	T	0.09468	0.0233	M	0.64260	1.97	0.09310	N	0.999991	D;D	0.57571	0.98;0.975	P;P	0.54174	0.744;0.627	T	0.08785	-1.0705	10	0.49607	T	0.09	-13.8276	5.453	0.16574	0.0:0.6087:0.1676:0.2237	.	164;138	O15547;F6V3D7	P2RX6_HUMAN;.	L	164;154;138;111	ENSP00000416193:F164L;ENSP00000338797:F154L;ENSP00000385309:F138L;ENSP00000408088:F111L	ENSP00000338797:F154L	F	+	3	2	P2RX6	19707259	0.063000	0.20901	0.745000	0.31077	0.821000	0.46438	0.436000	0.21526	0.696000	0.31696	0.484000	0.47621	TTC	P2RX6	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.562	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	C	NM_005446		21377259	1	no_errors	ENST00000413302	ensembl	human	known	70_37	missense	SNP	0.288	G	G	21377259	C	G	21377259	3	3	65	1	0	0	0	0	1	0	0	0	11368	825	29	1	510	1	P2RX6	22	21377259	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09		21377259	29927307	107	10059										
YPEL1	29799	genome.wustl.edu	37	chr22	22055456	22055456	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tttgatcatatgagcaagctCaatgatgaattttccttcct	6	8	2	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:22055456C>G	ENST00000339468.3	-	5	705	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	108				E -> D (in Ref. 6; AAH74501). {ECO:0000305}.		nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					TGAGCAAGCTCAATGATGAAT	0.388																																																	0													136	115	122					22																	22055456		2203	4300	6503	SO:0001583	missense	29799			AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"yippee (Drosophila) homolog-like 1"			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.322G>C	22.37:g.22055456C>G	ENSP00000342832:p.Glu108Gln		Q65ZA1|Q6GLI6	Missense_Mutation	SNP	pfam_Yippee	p.E108Q	ENST00000339468.3	37	c.322	CCDS13794.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.290872	0.95546	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89646	0.3866	9	0.72032	D	0.01	.	18.8981	0.92432	0.0:1.0:0.0:0.0	.	108	O60688	YPEL1_HUMAN	Q	108	.	ENSP00000342832:E108Q	E	-	1	0	YPEL1	20385456	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.650000	0.83521	2.880000	0.98712	0.650000	0.86243	GAG	YPEL1	-	pfam_Yippee		0.388	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YPEL1	HGNC	protein_coding	OTTHUMT00000320245.1	C	NM_013313		22055456	-1	no_errors	ENST00000339468	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22055456	C	G	22055456	3	3	65	1	0	0	0	0	1	0	0	0	17520	835	29	1	41	1	YPEL1	22	22055456	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	678197	22055456	29249110	108	10060										
MAPK12	6300	genome.wustl.edu	37	chr22	50694089	50694089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aactcagccggaggcgtcccCgtcaccttcatgatctcctt	8	16	4	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:50694089C>T	ENST00000215659.8	-	9	1041	c.726G>A	c.(724-726)acG>acA	p.T242T	MAPK12_ENST00000395780.1_Silent_p.T152T|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCGTCCCCGTCACCTTCA	0.672																																																	0													72	77	76					22																	50694089		2202	4300	6502	SO:0001819	synonymous_variant	6300			U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.726G>A	22.37:g.50694089C>T			Q14260|Q6IC53|Q99588|Q99672	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38	p.T242	ENST00000215659.8	37	c.726	CCDS14089.1	22																																																																																			MAPK12	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.672	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK12	HGNC	protein_coding	OTTHUMT00000074999.2	C	NM_002969		50694089	-1	no_errors	ENST00000215659	ensembl	human	known	70_37	silent	SNP	0.296	T	T	50694089	C	T	50694089	2	4	65	1	0	0	0	0	0	0	0	1	9297	639	23	2		2	MAPK12	22	50694089	Silent	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	28638633	50694089	610477	109	10061										
MXRA5	25878	genome.wustl.edu	37	chrX	3238158	3238158	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	acagtctgtggggacttggtGaggatttgtggcttttcccc	14	8	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:3238158G>A	ENST00000217939.6	-	5	5722	c.5568C>T	c.(5566-5568)ctC>ctT	p.L1856L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1856	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGACTTGGTGAGGATTTGTG	0.522																																																	0													96	82	87					X																	3238158		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5568C>T	X.37:g.3238158G>A			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L1856	ENST00000217939.6	37	c.5568	CCDS14124.1	X																																																																																			MXRA5	-	pfscan_Ig-like		0.522	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3238158	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	silent	SNP	0.792	A	A	3238158	G	A	3238158	2	1	65	1	0	0	0	0	0	0	0	1	10026	1277	45	1		1	MXRA5	23	3238158	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09		3238158	152032402	110	10062										
ATXN3L	92552	genome.wustl.edu	37	chrX	13337277	13337277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	agatcttgcgatgtgtttccGgaactaccttgcatgcttaa	9	9	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:13337277G>A	ENST00000380622.2	-	1	1241	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	259					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATGTGTTTCCGGAACTACCTT	0.428																																																	0													350	302	317					X																	13337277		1568	3582	5150	SO:0001819	synonymous_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.777C>T	X.37:g.13337277G>A			B2RNY8	Silent	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.S259	ENST00000380622.2	37	c.777	CCDS48080.1	X																																																																																			ATXN3L	-	smart_Ubiquitin-int_motif		0.428	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	G	NM_001135995		13337277	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	silent	SNP	0.010	A	A	13337277	G	A	13337277	2	1	65	1	0	0	0	0	0	0	0	1	1215	1103	39	2		2	ATXN3L	23	13337277	Silent	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	10099119	13337277	141933283	111	10063										
NHS	4810	genome.wustl.edu	37	chrX	17744357	17744357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ccactgttgcagacctgctgGatgatcccaacaacagcaac	8	14	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:17744357G>A	ENST00000380060.3	+	6	2406	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	NHS_ENST00000398097.3_Missense_Mutation_p.D534N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	711					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGACCTGCTGGATGATCCCAA	0.507																																																	0													171	158	162					X																	17744357		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2068G>A	X.37:g.17744357G>A	ENSP00000369400:p.Asp690Asn		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.D690N	ENST00000380060.3	37	c.2068	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868501	0.72065	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.54279	0.58;0.61	6.03	6.03	0.97812	.	0.087610	0.85682	D	0.000000	T	0.69628	0.3132	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.974;0.974;0.974;0.998	T	0.62627	-0.6814	10	0.21540	T	0.41	-21.076	19.4775	0.94995	0.0:0.0:1.0:0.0	.	711;532;534;690	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	N	690;534;532	ENSP00000369400:D690N;ENSP00000381170:D534N	ENSP00000369397:D532N	D	+	1	0	NHS	17654278	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.476000	0.97823	2.554000	0.86153	0.600000	0.82982	GAT	NHS	-	NULL		0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17744357	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17744357	G	A	17744357	3	1	65	1	0	0	0	0	1	0	0	0	10435	1174	41	1	2195	1	NHS	23	17744357	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	4407080	17744357	137526203	112	10064										
MAGEB1	4112	genome.wustl.edu	37	chrX	30269339	30269339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	atctatggggaaccccgtaaGttcatcacccaagatctggt	9	11	4	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:30269339G>C	ENST00000378981.3	+	4	1050	c.729G>C	c.(727-729)aaG>aaC	p.K243N	MAGEB1_ENST00000397550.1_Missense_Mutation_p.K243N|MAGEB1_ENST00000397548.2_Missense_Mutation_p.K243N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	243	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AACCCCGTAAGTTCATCACCC	0.498																																																	0													78	68	71					X																	30269339		2202	4300	6502	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.729G>C	X.37:g.30269339G>C	ENSP00000368264:p.Lys243Asn		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K243N	ENST00000378981.3	37	c.729	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447211	0.25987	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.06142	3.34;3.34;3.34	3.99	1.13	0.20643	.	0.111215	0.64402	D	0.000014	T	0.21227	0.0511	M	0.88031	2.925	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11567	-1.0582	10	0.62326	D	0.03	.	1.9545	0.03373	0.118:0.1976:0.4775:0.2069	.	243	P43366	MAGB1_HUMAN	N	243	ENSP00000368264:K243N;ENSP00000380683:K243N;ENSP00000380681:K243N	ENSP00000368264:K243N	K	+	3	2	MAGEB1	30179260	0.030000	0.19436	0.008000	0.14137	0.263000	0.26337	-0.030000	0.12308	0.100000	0.17581	0.600000	0.82982	AAG	MAGEB1	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	G	NM_002363		30269339	1	no_errors	ENST00000378981	ensembl	human	known	70_37	missense	SNP	0.007	C	C	30269339	G	C	30269339	3	2	65	1	0	0	0	0	1	0	0	0	9195	1020	36	4	731	4	MAGEB1	23	30269339	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	12524982	30269339	125001221	113	10065										
BCOR	54880	genome.wustl.edu	37	chrX	39932689	39932689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	catttggagacagaaatataGagcttggtggaaggccgttc	13	6	0	3	rs148052848		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:39932689G>A	ENST00000378444.4	-	4	2138	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	BCOR_ENST00000397354.3_Missense_Mutation_p.S637F|BCOR_ENST00000342274.4_Missense_Mutation_p.S637F|BCOR_ENST00000378455.4_Missense_Mutation_p.S637F	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	637	Pro-rich.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGAAATATAGAGCTTGGTGG	0.552			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59	55	56					X																	39932689		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1910C>T	X.37:g.39932689G>A	ENSP00000367705:p.Ser637Phe		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S637F	ENST00000378444.4	37	c.1910	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880624	0.51801	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.79	5.79	0.91817	.	.	.	.	.	T	0.29749	0.0743	N	0.19112	0.55	0.37007	D	0.895565	D;D;D;D	0.76494	0.998;0.999;0.996;0.999	D;D;P;D	0.70935	0.929;0.971;0.851;0.971	T	0.25950	-1.0117	9	0.72032	D	0.01	-6.1909	18.9979	0.92821	0.0:0.0:1.0:0.0	.	637;637;637;637	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	F	637;637;637;637;637;44	ENSP00000367716:S637F;ENSP00000380512:S637F;ENSP00000367705:S637F;ENSP00000345923:S637F;ENSP00000384485:S637F	ENSP00000345923:S637F	S	-	2	0	BCOR	39817633	1.000000	0.71417	0.346000	0.25655	0.920000	0.55202	6.778000	0.75043	2.435000	0.82474	0.600000	0.82982	TCT	BCOR	-	NULL		0.552	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39932689	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	0.969	A	A	39932689	G	A	39932689	3	1	65	1	0	0	0	0	1	0	0	0	1387	942	33	1	3405	1	BCOR	23	39932689	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	9663350	39932689	115337871	114	10066										
UBA1	7317	genome.wustl.edu	37	chrX	47060913	47060913	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttacctgcctggatgaggccCgacacgggtttgagagcggg	16	10	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:47060913C>T	ENST00000335972.6	+	8	898	c.715C>T	c.(715-717)Cga>Tga	p.R239*	UBA1_ENST00000377351.4_Nonsense_Mutation_p.R239*	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	239	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGATGAGGCCCGACACGGGTT	0.537																																																	0													37	32	34					X																	47060913		2203	4300	6503	SO:0001587	stop_gained	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.715C>T	X.37:g.47060913C>T	ENSP00000338413:p.Arg239*		Q5JRR8|Q96E13	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.R239*	ENST00000335972.6	37	c.715	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.850572	0.97023	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000442035;ENST00000335972	.	.	.	4.74	3.85	0.44370	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5953	10.886	0.46968	0.3376:0.6624:0.0:0.0	.	.	.	.	X	239;239;253;239	.	ENSP00000338413:R239X	R	+	1	2	UBA1	46945857	0.377000	0.25106	1.000000	0.80357	0.939000	0.58152	0.997000	0.29731	1.071000	0.40834	0.509000	0.49947	CGA	UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.537	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	C	NM_003334		47060913	1	no_errors	ENST00000335972	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47060913	C	T	47060913	4	4	65	1	0	0	0	0	0	1	0	0	16858	644	23	2	741	2	UBA1	23	47060913	Nonsense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	7128224	47060913	108209647	115	10067										
ZNF711	7552	genome.wustl.edu	37	chrX	84502592	84502592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gctaagtatggattcaggcgGtggaagtcttggattgcaca	14	6	2	0			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:84502592G>T	ENST00000373165.3	+	3	320	c.14G>T	c.(13-15)gGt>gTt	p.G5V	ZNF711_ENST00000360700.4_Missense_Mutation_p.G5V|ZNF711_ENST00000276123.3_Missense_Mutation_p.G5V|ZNF711_ENST00000395402.1_5'UTR	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	5					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATTCAGGCGGTGGAAGTCTT	0.333																																																	0													141	129	133					X																	84502592		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.14G>T	X.37:g.84502592G>T	ENSP00000362260:p.Gly5Val		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G5V	ENST00000373165.3	37	c.14	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	g	16.92	3.254558	0.59212	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	T;T;T	0.11385	2.78;2.78;2.83	4.37	2.51	0.30379	.	0.224065	0.21469	U	0.074039	T	0.24851	0.0603	L	0.51422	1.61	0.80722	D	1	D;B	0.89917	1.0;0.016	D;B	0.87578	0.998;0.018	T	0.00109	-1.2049	10	0.41790	T	0.15	-0.8789	12.4096	0.55459	0.0:0.0:0.6944:0.3056	.	5;5	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	V	5	ENSP00000362260:G5V;ENSP00000276123:G5V;ENSP00000353922:G5V	ENSP00000276123:G5V	G	+	2	0	ZNF711	84389248	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.007000	0.63984	0.229000	0.21039	0.509000	0.49947	GGT	ZNF711	-	NULL		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84502592	1	no_errors	ENST00000276123	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84502592	G	T	84502592	3	4	65	1	0	0	0	0	1	0	0	0	18146	1261	44	4	16	4	ZNF711	23	84502592	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	37441679	84502592	70767968	116	10068										
KLHL13	90293	genome.wustl.edu	37	chrX	117162393	117162393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttccataaatataccggttaCgaagtattgcagcaaccaat	6	9	0	0	rs373116325		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:117162393C>T	ENST00000540167.1	-	2	425	c.44G>A	c.(43-45)cGt>cAt	p.R15H	KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000541812.1_Missense_Mutation_p.R15H|KLHL13_ENST00000371882.1_Intron	NM_001168302.1	NP_001161774.1	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	0					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATACCGGTTACGAAGTATTGC	0.338																																																	0								C	HIS/ARG,HIS/ARG,	1,1208		0,1,516,175	147	111	122		44,44,	1.1	1	X		122	0,2391		0,0,800,791	no	missense,missense,intron	KLHL13	NM_001168301.1,NM_001168302.1,NM_001168303.1	29,29,	0,1,1316,966	TT,TC,CC,C		0.0,0.0827,0.0278	,,	15/640,15/640,	117162393	1,3599	692	1591	2283	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000540167.1:c.44G>A	X.37:g.117162393C>T	ENSP00000441029:p.Arg15His		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R15H	ENST00000540167.1	37	c.44	CCDS55481.1	X	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143143	0.21205	8.27E-4	0.0	ENSG00000003096	ENST00000541812;ENST00000540167	T;T	0.69806	-0.43;-0.43	3.99	1.11	0.20524	.	.	.	.	.	T	0.38321	0.1036	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05517	-1.0880	8	.	.	.	.	5.6695	0.17715	0.0:0.5965:0.0:0.4035	.	15	Q9P2N7-3	.	H	15	ENSP00000444450:R15H;ENSP00000441029:R15H	.	R	-	2	0	KLHL13	117046421	0.997000	0.39634	0.996000	0.52242	0.900000	0.52787	0.041000	0.13927	0.089000	0.17243	-1.178000	0.01721	CGT	KLHL13	-	pirsf_Kelch-like_gigaxonin		0.338	KLHL13-203	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		C	NM_033495		117162393	-1	no_errors	ENST00000540167	ensembl	human	known	70_37	missense	SNP	0.996	T	T	117162393	C	T	117162393	3	4	65	1	0	0	0	0	1	0	0	0	8389	536	19	2	2204	2	KLHL13	23	117162393	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	32659801	117162393	38108167	117	10069										
SASH3	54440	genome.wustl.edu	37	chrX	128922006	128922006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tgccaaatccaaacccagctCccccgtggtgagcgagaagg	11	14	0	2			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:128922006C>T	ENST00000356892.3	+	2	227	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	38					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AAACCCAGCTCCCCCGTGGTG	0.567																																																	0													100	93	95					X																	128922006		2203	4300	6503	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.113C>T	X.37:g.128922006C>T	ENSP00000349359:p.Ser38Phe		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.S38F	ENST00000356892.3	37	c.113	CCDS14614.1	X	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703805	0.88924	.	.	ENSG00000122122	ENST00000356892	T	0.53640	0.61	5.16	5.16	0.70880	.	0.059218	0.64402	D	0.000001	T	0.56529	0.1991	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62798	-0.6778	10	0.87932	D	0	-9.9045	16.4651	0.84076	0.0:1.0:0.0:0.0	.	38	O75995	SASH3_HUMAN	F	38	ENSP00000349359:S38F	ENSP00000349359:S38F	S	+	2	0	SASH3	128749687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.399000	0.79935	2.143000	0.66587	0.600000	0.82982	TCC	SASH3	-	pfam_rSAM/SH3_domain-containing		0.567	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	C	NM_018990		128922006	1	no_errors	ENST00000356892	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128922006	C	T	128922006	3	4	65	1	0	0	0	0	1	0	0	0	13879	855	30	1	119	1	SASH3	23	128922006	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	11759613	128922006	26348554	118	10070										
HTATSF1	27336	genome.wustl.edu	37	chrX	135585077	135585077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	aagaagtgcaaagactataaGaagaagctgtctatgcaaca	9	6	1	4			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:135585077G>C	ENST00000218364.4	+	5	885	c.711G>C	c.(709-711)aaG>aaC	p.K237N	HTATSF1_ENST00000535601.1_Missense_Mutation_p.K237N	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	237					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAGACTATAAGAAGAAGCTGT	0.323																																																	0													94	99	97					X																	135585077		2203	4300	6503	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.711G>C	X.37:g.135585077G>C	ENSP00000218364:p.Lys237Asn		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K237N	ENST00000218364.4	37	c.711	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509909	0.64522	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000218364;ENST00000415377	T;T	0.29917	1.55;1.55	5.5	5.5	0.81552	.	0.335564	0.36134	N	0.002765	T	0.51346	0.1669	M	0.72894	2.215	0.58432	D	0.999998	D	0.76494	0.999	D	0.64410	0.925	T	0.54925	-0.8220	10	0.87932	D	0	-11.8874	11.9664	0.53038	0.0814:0.0:0.9186:0.0	.	237	O43719	HTSF1_HUMAN	N	237	ENSP00000442699:K237N;ENSP00000218364:K237N	ENSP00000218364:K237N	K	+	3	2	HTATSF1	135412743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.103000	0.57783	2.309000	0.77851	0.468000	0.43344	AAG	HTATSF1	-	NULL		0.323	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135585077	1	no_errors	ENST00000218364	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135585077	G	C	135585077	3	2	65	1	0	0	0	0	1	0	0	0	7453	933	33	1	729	1	HTATSF1	23	135585077	Missense_Mutation	SNP	G	TCGA-DS-A5RQ-01A-11D-A28B-09	6663071	135585077	19685483	119	10071										
MAGEC3	139081	genome.wustl.edu	37	chrX	140984701	140984701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	gcctgctgctgggatgccacCtcttccccagagtcctcctg	10	17	1	1			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:140984701C>T	ENST00000298296.1	+	7	1157	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	MAGEC3_ENST00000443323.2_Missense_Mutation_p.P8L|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P88L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P88L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P88L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	386	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGCCACCTCTTCCCCAG	0.577																																																	0													55	44	48					X																	140984701		2177	4257	6434	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1157C>T	X.37:g.140984701C>T	ENSP00000298296:p.Pro386Leu		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P386L	ENST00000298296.1	37	c.1157	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	7.528	0.658103	0.14645	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.03496	4.12;3.92;3.91;3.92;3.92	0.524	-0.728	0.11162	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	P;P	0.51933	0.86;0.949	B;B	0.38616	0.206;0.277	T	0.37009	-0.9724	8	0.08381	T	0.77	.	.	.	.	.	386;88	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	L	386;88;8;88;88	ENSP00000298296:P386L;ENSP00000441107:P88L;ENSP00000438254:P8L;ENSP00000440444:P88L;ENSP00000386566:P88L	ENSP00000298296:P386L	P	+	2	0	MAGEC3	140812367	0.001000	0.12720	0.003000	0.11579	0.077000	0.17291	-0.335000	0.07873	-0.473000	0.06871	-0.893000	0.02921	CCT	MAGEC3	-	NULL		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140984701	1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.003	T	T	140984701	C	T	140984701	3	4	65	1	0	0	0	0	1	0	0	0	9205	681	24	4	1412	4	MAGEC3	23	140984701	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	5399624	140984701	14285859	120	10072										
MAGEC1	9947	genome.wustl.edu	37	chrX	140993233	140993234	+	Frame_Shift_Ins	INS	-	-	A													0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	tgctgggatgccgagtcttcINStccagagttcctctgagagt							TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:140993233_140993234insA	ENST00000285879.4	+	4	329_330	c.43_44insA	c.(43-45)ctcfs	p.L15fs	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	15										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGAGTCTTCTCCAGAGTTCC	0.559										HNSCC(15;0.026)																																							0																																										SO:0001589	frameshift_variant	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	Exception_encountered	X.37:g.140993233_140993234insA	ENSP00000285879:p.Leu15fs		A0PK03|O75451|Q8TCV4	Frame_Shift_Ins	INS	pfam_MAGE,pfscan_MAGE	p.L15fs	ENST00000285879.4	37	c.43_44	CCDS35417.1	X																																																																																			MAGEC1	-	NULL		0.559	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	NM_005462		140993234	1	no_errors	ENST00000285879	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.001	A	A	140993234	-	A	140993233	7	5	65	1	0	1	1	0	0	0	0	0	9203	913	32	0	49	0	MAGEC1	23	140993233	Frame_Shift_Ins	INS	-	TCGA-DS-A5RQ-01A-11D-A28B-09	8532	140993233	14277327	121	10073										
IDS	3423	genome.wustl.edu	37	chrX	148579754	148579754	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.360655737704918	44	5.90233940197677e-12	3.0789269482319	4.84831029185868	2.78047674569245	1.19775545798358e-06	1.93637132374012e-05	30	ttgctcagtgctctgtttgtCaggcaaggtgccctcgggaa	13	10	3	0	rs193302904		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:148579754C>T	ENST00000340855.6	-	5	801	c.592G>A	c.(592-594)Gac>Aac	p.D198N	IDS_ENST00000422081.2_5'UTR|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370443.4_Missense_Mutation_p.D198N|IDS_ENST00000370441.4_Missense_Mutation_p.D198N	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	198			D -> G (in MPS2; mild form). {ECO:0000269|PubMed:9921913}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTCTGTTTGTCAGGCAAGGTG	0.502																																																	0													133	106	115					X																	148579754		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.592G>A	X.37:g.148579754C>T	ENSP00000339801:p.Asp198Asn		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D198N	ENST00000340855.6	37	c.592	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.230735	0.95207	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443	D;D;D	0.99150	-5.49;-5.49;-5.49	5.11	5.11	0.69529	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99253	1.0888	10	0.87932	D	0	.	17.7676	0.88483	0.0:1.0:0.0:0.0	.	198;108;198	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	N	198	ENSP00000339801:D198N;ENSP00000359470:D198N;ENSP00000359472:D198N	ENSP00000339801:D198N	D	-	1	0	IDS	148387659	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.263000	0.78421	2.127000	0.65507	0.523000	0.50628	GAC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.502	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148579754	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148579754	C	T	148579754	3	4	65	1	0	0	0	0	1	0	0	0	7523	826	29	1	1110	1	IDS	23	148579754	Missense_Mutation	SNP	C	TCGA-DS-A5RQ-01A-11D-A28B-09	7586521	148579754	6690806	122	10074										
HOOK1	51361	genome.wustl.edu	37	chr1	60294516	60294516	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	aggatgttggggacaactggAgaataaaggtatgcagaaca	14	4	0	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:60294516A>C	ENST00000371208.3	+	3	471	c.214A>C	c.(214-216)Aga>Cga	p.R72R	HOOK1_ENST00000395561.2_Silent_p.R30R|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	72	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGACAACTGGAGAATAAAGGT	0.348																																																	0													112	107	109					1																	60294516		2202	4300	6502	SO:0001819	synonymous_variant	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.214A>C	1.37:g.60294516A>C			A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	pfam_HOOK,superfamily_Prefoldin	p.R72	ENST00000371208.3	37	c.214	CCDS612.1	1																																																																																			HOOK1	-	pfam_HOOK		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	A	NM_015888		60294516	1	no_errors	ENST00000371208	ensembl	human	known	70_37	silent	SNP	1.000	C	C	60294516	A	C	60294516	2	2	66	1	0	0	0	0	0	0	0	1	7302	296	11	5		5	HOOK1	1	60294516	Silent	SNP	A	TCGA-DS-A7WF-01A-11D-A351-09		60294516	188956105	1	10075										
CD1A	909	genome.wustl.edu	37	chr1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	caggaaaggcacatctccagCggcaaggtcagtcctgcact	11	13	2	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463																																																	0													115	97	103					1																	158226066		2203	4300	6503	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.598C>T	1.37:g.158226066C>T	ENSP00000289429:p.Arg200Trp		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R200W	ENST00000289429.5	37	c.598	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122253	0.37436	.	.	ENSG00000158477	ENST00000289429	T	0.19938	2.11	4.23	-8.46	0.00942	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.34483	0.0899	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47923	-0.9079	10	0.87932	D	0	-16.0605	9.723	0.40315	0.7099:0.1423:0.0:0.1478	.	200	P06126	CD1A_HUMAN	W	200	ENSP00000289429:R200W	ENSP00000289429:R200W	R	+	1	2	CD1A	156492690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.433000	0.00472	-2.213000	0.00735	-1.815000	0.00603	CGG	CD1A	-	superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	C	NM_001763		158226066	1	no_errors	ENST00000289429	ensembl	human	known	70_37	missense	SNP	0.000	T	T	158226066	C	T	158226066	3	4	66	1	0	0	0	0	1	0	0	0	2979	759	27	2	608	2	CD1A	1	158226066	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	97931550	158226066	91024555	2	10076										
SLC41A1	254428	genome.wustl.edu	37	chr1	205768158	205768158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	aaggcgtgcggaatactgaaGtggccatcagggatccagcc	14	10	1	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:205768158G>A	ENST00000367137.3	-	5	1638	c.624C>T	c.(622-624)caC>caT	p.H208H	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	208					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAATACTGAAGTGGCCATCAG	0.597																																																	0													65	62	63					1																	205768158		2203	4300	6503	SO:0001819	synonymous_variant	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.624C>T	1.37:g.205768158G>A			Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	pfam_MgtE_Mg_transptr_membr	p.H208	ENST00000367137.3	37	c.624	CCDS30988.1	1																																																																																			SLC41A1	-	pfam_MgtE_Mg_transptr_membr		0.597	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	G			205768158	-1	no_errors	ENST00000367137	ensembl	human	known	70_37	silent	SNP	1.000	A	A	205768158	G	A	205768158	2	1	66	1	0	0	0	0	0	0	0	1	14659	1020	36	4		4	SLC41A1	1	205768158	Silent	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	47542092	205768158	43482463	3	10077										
OBSCN	84033	genome.wustl.edu	37	chr1	228464416	228464416	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tcggcgcggctcgtggtcacCggtgcgttggggggccggca	20	12	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:228464416C>T	ENST00000422127.1	+	22	6530	c.6486C>T	c.(6484-6486)acC>acT	p.T2162T	OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Splice_Site_p.T1009T|OBSCN_ENST00000284548.11_Splice_Site_p.T2162T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Splice_Site_p.T2537T|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2162	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGTGGTCACCGGTGCGTTGG	0.682																																																	0													6	7	7					1																	228464416		1949	4075	6024	SO:0001630	splice_region_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6487+1C>T	1.37:g.228464416C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T2162	ENST00000422127.1	37	c.6486	CCDS58065.1	1																																																																																			OBSCN	-	smart_Ig_sub		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843	Silent	228464416	1	no_errors	ENST00000422127	ensembl	human	known	70_37	silent	SNP	0.053	T	T	228464416	C	T	228464416	5	4	66	1	0	0	0	0	0	0	1	0	10836	666	23	2	6568	2	OBSCN	1	228464416	Splice_Site	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	22696258	228464416	20786205	4	10078										
ABCB10	23456	genome.wustl.edu	37	chr1	229678057	229678057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	atcgcccataaattacagcaAtgattgacactggaggcacc	8	11	0	2	rs200635064		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:229678057A>C	ENST00000344517.4	-	4	1025	c.983T>G	c.(982-984)aTt>aGt	p.I328S		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	328	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AATTACAGCAATGATTGACAC	0.453																																																	0													73	68	70					1																	229678057		2203	4300	6503	SO:0001583	missense	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.983T>G	1.37:g.229678057A>C	ENSP00000355637:p.Ile328Ser		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I328S	ENST00000344517.4	37	c.983	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.161203	0.57368	.	.	ENSG00000135776	ENST00000344517	D	0.89415	-2.51	4.91	3.71	0.42584	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.476527	0.24143	N	0.041146	T	0.80093	0.4560	N	0.20530	0.585	0.34285	D	0.682546	B	0.14012	0.009	B	0.26770	0.073	T	0.77482	-0.2571	10	0.18276	T	0.48	-10.2789	11.5697	0.50826	0.8664:0.0:0.0:0.1336	.	328	Q9NRK6	ABCBA_HUMAN	S	328	ENSP00000355637:I328S	ENSP00000355637:I328S	I	-	2	0	ABCB10	227744680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.773000	0.75006	2.190000	0.69967	0.459000	0.35465	ATT	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.453	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	A	NM_012089		229678057	-1	no_errors	ENST00000344517	ensembl	human	known	70_37	missense	SNP	0.996	C	C	229678057	A	C	229678057	3	2	66	1	0	0	0	0	1	0	0	0	41	101	4	5	1273	5	ABCB10	1	229678057	Missense_Mutation	SNP	A	TCGA-DS-A7WF-01A-11D-A351-09	1213641	229678057	19572564	5	10079										
FMN2	56776	genome.wustl.edu	37	chr1	240255683	240255683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ccaaggggaaaggcgccggcGgctcccgcgaagatgtactg	16	12	0	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:240255683G>A	ENST00000319653.9	+	1	504	c.274G>A	c.(274-276)Ggc>Agc	p.G92S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	92					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCCGGCGGCTCCCGCGA	0.627																																																	0													16	20	19					1																	240255683		2201	4298	6499	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.274G>A	1.37:g.240255683G>A	ENSP00000318884:p.Gly92Ser		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G92S	ENST00000319653.9	37	c.274	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458566	0.43634	.	.	ENSG00000155816	ENST00000319653	T	0.27256	1.68	4.2	3.2	0.36748	.	0.198776	0.34959	N	0.003543	T	0.13543	0.0328	L	0.40543	1.245	0.80722	D	1	P	0.34546	0.456	B	0.22601	0.04	T	0.05767	-1.0865	10	0.14656	T	0.56	.	5.7906	0.18359	0.1434:0.1989:0.6577:0.0	.	92	Q9NZ56	FMN2_HUMAN	S	92	ENSP00000318884:G92S	ENSP00000318884:G92S	G	+	1	0	FMN2	238322306	1.000000	0.71417	0.995000	0.50966	0.893000	0.52053	5.295000	0.65692	2.037000	0.60232	0.313000	0.20887	GGC	FMN2	-	NULL		0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240255683	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.990	A	A	240255683	G	A	240255683	3	1	66	1	0	0	0	0	1	0	0	0	5968	1116	39	2	276	2	FMN2	1	240255683	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	10577626	240255683	8994938	6	10080										
C2orf42	54980	genome.wustl.edu	37	chr2	70408314	70408314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ccgctggaatcaaaatttagGaagtctgagaattcctgagc	10	8	2	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:70408314G>T	ENST00000264434.2	-	3	1183	c.804C>A	c.(802-804)ttC>ttA	p.F268L	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Missense_Mutation_p.F268L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	268										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CAAAATTTAGGAAGTCTGAGA	0.428																																																	0													51	49	49					2																	70408314		2203	4300	6503	SO:0001583	missense	54980			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.804C>A	2.37:g.70408314G>T	ENSP00000264434:p.Phe268Leu		D6W5G3|Q9H629	Missense_Mutation	SNP	NULL	p.F268L	ENST00000264434.2	37	c.804	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405938	0.62288	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	T;T	0.47528	0.84;0.84	4.93	1.84	0.25277	.	0.049455	0.85682	N	0.000000	T	0.37945	0.1022	L	0.58101	1.795	0.43110	D	0.99481	B	0.02656	0.0	B	0.06405	0.002	T	0.26360	-1.0105	10	0.49607	T	0.09	-19.3937	4.924	0.13883	0.2785:0.1689:0.5527:0.0	.	268	Q9NWW7	CB042_HUMAN	L	268	ENSP00000264434:F268L;ENSP00000404515:F268L	ENSP00000264434:F268L	F	-	3	2	C2orf42	70261818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.086000	0.50159	0.640000	0.30582	0.460000	0.39030	TTC	C2orf42	-	NULL		0.428	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	G	NM_017880		70408314	-1	no_errors	ENST00000264434	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70408314	G	T	70408314	3	4	66	1	0	0	0	0	1	0	0	0	2171	1165	41	3	952	3	C2orf42	2	70408314	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		70408314	172791059	7	10081										
ITPRIPL1	150771	genome.wustl.edu	37	chr2	96992535	96992535	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	gtgaggagatgcgcctgctaGagatggagtttgaagagaga	17	4	0	6			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:96992535G>T	ENST00000439118.2	+	3	417	c.166G>T	c.(166-168)Gag>Tag	p.E56*	ITPRIPL1_ENST00000361124.4_Nonsense_Mutation_p.E64*|ITPRIPL1_ENST00000542887.1_Nonsense_Mutation_p.E48*|ITPRIPL1_ENST00000536814.1_Nonsense_Mutation_p.E48*	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	56						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCCTGCTAGAGATGGAGTT	0.547																																																	0													100	98	98					2																	96992535		2203	4300	6503	SO:0001587	stop_gained	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.166G>T	2.37:g.96992535G>T	ENSP00000389308:p.Glu56*		F5H1L8|Q8NE61	Nonsense_Mutation	SNP	NULL	p.E64*	ENST00000439118.2	37	c.190	CCDS46360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.543274|4.543274	0.86022|0.86022	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	.|.	.|.	.|.	5.12|5.12	4.24|4.24	0.50183|0.50183	.|.	0.250727|.	0.20944|.	N|.	0.082873|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.19147|.	T|.	0.46|.	-5.1269|-5.1269	7.229|7.229	0.26033|0.26033	0.2612:0.0:0.7388:0.0|0.2612:0.0:0.7388:0.0	.|.	.|.	.|.	.|.	X|Y	48;48;56;64;48|87	.|.	ENSP00000355121:E64X|.	E|X	+|+	1|3	0|2	ITPRIPL1|ITPRIPL1	96356262|96356262	1.000000|1.000000	0.71417|0.71417	0.622000|0.622000	0.29159|0.29159	0.478000|0.478000	0.33099|0.33099	2.623000|2.623000	0.46435|0.46435	1.301000|1.301000	0.44836|0.44836	0.655000|0.655000	0.94253|0.94253	GAG|TAG	ITPRIPL1	-	NULL		0.547	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	ITPRIPL1	HGNC	protein_coding	OTTHUMT00000338896.1	G	NM_178495		96992535	1	no_errors	ENST00000361124	ensembl	human	known	70_37	nonsense	SNP	0.566	T	T	96992535	G	T	96992535	4	4	66	1	0	0	0	0	0	1	0	0	7944	943	33	3	206	3	ITPRIPL1	2	96992535	Nonsense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	26584221	96992535	146206838	8	10082										
COL5A2	1290	genome.wustl.edu	37	chr2	189907496	189907496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	acttccttgttcaccatttgGaccctaagtaggaatacaat	6	10	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:189907496G>A	ENST00000374866.3	-	49	3749	c.3475C>T	c.(3475-3477)Cca>Tca	p.P1159S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1159					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCATTTGGACCCTAAGTA	0.378																																																	0													65	58	61					2																	189907496		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3475C>T	2.37:g.189907496G>A	ENSP00000364000:p.Pro1159Ser		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1159S	ENST00000374866.3	37	c.3475	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011516	0.35511	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96587	-4.06	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000089	D	0.94814	0.8325	L	0.41961	1.31	0.58432	D	0.999998	B;P	0.44429	0.409;0.835	B;P	0.45071	0.253;0.468	D	0.92597	0.6088	10	0.12103	T	0.63	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	799;1159	Q5PR22;P05997	.;CO5A2_HUMAN	S	1159;799	ENSP00000364000:P1159S	ENSP00000364000:P1159S	P	-	1	0	COL5A2	189615741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.226000	0.51254	2.871000	0.98454	0.655000	0.94253	CCA	COL5A2	-	pfam_Collagen		0.378	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189907496	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189907496	G	A	189907496	3	1	66	1	0	0	0	0	1	0	0	0	3702	1174	41	1	1048	1	COL5A2	2	189907496	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	92914961	189907496	53291877	9	10083										
ERC2	26059	genome.wustl.edu	37	chr3	56468506	56468506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tcttaatactgttcatggaaGatcccaatttgctgtccttg	7	9	2	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr3:56468506G>A	ENST00000288221.6	-	2	785	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	177						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCATGGAAGATCCCAATTT	0.483																																																	0													232	223	226					3																	56468506		1934	4144	6078	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.530C>T	3.37:g.56468506G>A	ENSP00000288221:p.Ser177Phe		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.S177F	ENST00000288221.6	37	c.530	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542162	0.85917	.	.	ENSG00000187672	ENST00000288221	T	0.49139	0.79	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.78049	2.395	0.58432	D	0.999999	D	0.67145	0.996	D	0.77557	0.99	T	0.74006	-0.3803	10	0.87932	D	0	-11.5545	19.971	0.97285	0.0:0.0:1.0:0.0	.	177	O15083	ERC2_HUMAN	F	177	ENSP00000288221:S177F	ENSP00000288221:S177F	S	-	2	0	ERC2	56443546	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.859000	0.99545	2.733000	0.93635	0.637000	0.83480	TCT	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot		0.483	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	G	NM_015576		56468506	-1	no_errors	ENST00000288221	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56468506	G	A	56468506	3	1	66	1	0	0	0	0	1	0	0	0	5223	942	33	1	2397	1	ERC2	3	56468506	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		56468506	141553924	10	10084										
PIK3CA	5290	genome.wustl.edu	37	chr3	178952086	178952086	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	aaacaaatgaatgatgcacaTcatggtggctggacaacaaa	9	7	1	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr3:178952086T>G	ENST00000263967.3	+	21	3298	c.3141T>G	c.(3139-3141)caT>caG	p.H1047Q	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047Q(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGATGCACATCATGGTGGCT	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)											99	89	92					3																	178952086		1912	4131	6043	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3141T>G	3.37:g.178952086T>G	ENSP00000263967:p.His1047Gln		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047Q	ENST00000263967.3	37	c.3141	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723846	0.30593	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	-6.31	0.02001	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	N	0.16656	0.425	0.54753	D	0.999987	B	0.18461	0.028	B	0.13407	0.009	T	0.29671	-1.0004	10	0.59425	D	0.04	-21.2893	17.663	0.88197	0.0:0.5722:0.0:0.4278	.	1047	P42336	PK3CA_HUMAN	Q	1047	ENSP00000263967:H1047Q	ENSP00000263967:H1047Q	H	+	3	2	PIK3CA	180434780	0.811000	0.29063	0.934000	0.37439	0.998000	0.95712	-0.118000	0.10692	-0.903000	0.03881	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	T			178952086	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	0.722	G	G	178952086	T	G	178952086	3	3	66	1	0	0	0	0	1	0	0	0	11937	1432	50	5	3219	5	PIK3CA	3	178952086	Missense_Mutation	SNP	T	TCGA-DS-A7WF-01A-11D-A351-09	122483580	178952086	19070344	11	10085										
GFRA3	2676	genome.wustl.edu	37	chr5	137593424	137593424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	gggcgatggtgttgcgccggCgctccccgcagccccggtcg	17	16	0	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:137593424C>T	ENST00000274721.3	-	4	935	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R199H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	230					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTTGCGCCGGCGCTCCCCGCA	0.706																																																	0													15	18	17					5																	137593424		2188	4256	6444	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.689G>A	5.37:g.137593424C>T	ENSP00000274721:p.Arg230His		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.R230H	ENST00000274721.3	37	c.689	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015461	0.93404	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.63913	-0.07;-0.07	4.81	4.81	0.61882	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.79375	0.4435	M	0.83483	2.645	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81215	-0.1034	10	0.49607	T	0.09	-32.1129	13.371	0.60713	0.0:1.0:0.0:0.0	.	199;230	O60609-2;O60609	.;GFRA3_HUMAN	H	230;199	ENSP00000274721:R230H;ENSP00000367613:R199H	ENSP00000274721:R230H	R	-	2	0	GFRA3	137621323	0.999000	0.42202	0.998000	0.56505	0.953000	0.61014	5.251000	0.65438	2.212000	0.71576	0.655000	0.94253	CGC	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt		0.706	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	C	NM_001496		137593424	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137593424	C	T	137593424	3	4	66	1	0	0	0	0	1	0	0	0	6368	768	27	2	533	2	GFRA3	5	137593424	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		137593424	43321836	12	10086										
PCDHB13	56123	genome.wustl.edu	37	chr5	140595285	140595285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ctgcaggggttccagttccgCgtgggcgcttcagaccacgg	15	13	1	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:140595285C>T	ENST00000341948.4	+	1	1777	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGTTCCGCGTGGGCGCTT	0.672																																																	0													57	65	63					5																	140595285		2203	4300	6503	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1590C>T	5.37:g.140595285C>T			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R530	ENST00000341948.4	37	c.1590	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.672	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	C	NM_018933		140595285	1	no_errors	ENST00000341948	ensembl	human	known	70_37	silent	SNP	0.002	T	T	140595285	C	T	140595285	2	4	66	1	0	0	0	0	0	0	0	1	11562	755	27	2		2	PCDHB13	5	140595285	Silent	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	3001861	140595285	40319975	13	10087										
PCYOX1L	78991	genome.wustl.edu	37	chr5	148746982	148746982	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ctgtggaaggaggcaataagCtggtttgttccggtttgctg	15	6	0	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:148746982C>G	ENST00000274569.4	+	5	804	c.742C>G	c.(742-744)Ctg>Gtg	p.L248V	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.L158V	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	248					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAATAAGCTGGTTTGTTC	0.587											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)												0													171	136	148					5																	148746982		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.742C>G	5.37:g.148746982C>G	ENSP00000274569:p.Leu248Val	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.L248V	ENST00000274569.4	37	c.742	CCDS4296.1	5	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637565	0.47049	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15718	2.4;2.4	5.67	5.67	0.87782	Prenylcysteine lyase (1);	0.075985	0.53938	D	0.000041	T	0.26919	0.0659	M	0.77313	2.365	0.52099	D	0.999944	P;P;P	0.52692	0.955;0.849;0.849	P;P;P	0.52424	0.698;0.543;0.696	T	0.10965	-1.0607	10	0.11485	T	0.65	-14.6543	7.0548	0.25093	0.1452:0.7143:0.0:0.1405	.	130;158;248	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	V	248;158	ENSP00000274569:L248V;ENSP00000428512:L158V	ENSP00000274569:L248V	L	+	1	2	PCYOX1L	148727175	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.012000	0.40932	2.677000	0.91161	0.561000	0.74099	CTG	PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.587	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2	C	NM_024028		148746982	1	no_errors	ENST00000274569	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148746982	C	G	148746982	3	3	66	1	0	0	0	0	1	0	0	0	11633	796	28	4	760	4	PCYOX1L	5	148746982	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	8151697	148746982	32168278	14	10088										
ADAM19	8728	genome.wustl.edu	37	chr5	156915286	156915286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	cacttacctgggaaacgatgCaatttggtgcggggggaatt	14	7	0	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:156915286C>T	ENST00000517905.1	-	21	2581	c.2537G>A	c.(2536-2538)tGc>tAc	p.C846Y	ADAM19_ENST00000430702.2_Missense_Mutation_p.C579Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.C848Y|ADAM19_ENST00000257527.4_Missense_Mutation_p.C846Y			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	846					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAAACGATGCAATTTGGTGC	0.552																																																	0													94	99	97					5																	156915286		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2537G>A	5.37:g.156915286C>T	ENSP00000428654:p.Cys846Tyr		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.C848Y	ENST00000517905.1	37	c.2543		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.745|4.745	0.138621|0.138621	0.09083|0.09083	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.01599	.|4.74;4.87;4.89;4.86	5.69|5.69	-0.653|-0.653	0.11447|0.11447	.|.	.|0.711168	.|0.13923	.|N	.|0.353406	T|T	0.00967|0.00967	0.0032|0.0032	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.001	T|T	0.48479|0.48479	-0.9032|-0.9032	5|10	.|0.02654	.|T	.|1	.|.	1.7833|1.7833	0.03036|0.03036	0.1151:0.2046:0.2508:0.4295|0.1151:0.2046:0.2508:0.4295	.|.	.|846;846;579	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	T|Y	417|579;846;848;846	.|ENSP00000414088:C579Y;ENSP00000257527:C846Y;ENSP00000377588:C848Y;ENSP00000428654:C846Y	.|ENSP00000257527:C846Y	A|C	-|-	1|2	0|0	ADAM19|ADAM19	156847864|156847864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.021000|0.021000	0.13489|0.13489	-0.188000|-0.188000	0.10499|0.10499	0.491000|0.491000	0.48974|0.48974	GCA|TGC	ADAM19	-	NULL		0.552	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	C	NM_033274		156915286	-1	no_errors	ENST00000394020	ensembl	human	known	70_37	missense	SNP	0.000	T	T	156915286	C	T	156915286	3	4	66	1	0	0	0	0	1	0	0	0	240	710	25	4	231	4	ADAM19	5	156915286	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	8168304	156915286	23999974	15	10089										
TMEM63B	55362	genome.wustl.edu	37	chr6	44120421	44120421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ctacagtatcacctgccccaTcatcgtgcccttcggtaggc	8	16	2	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr6:44120421T>C	ENST00000259746.9	+	20	2111	c.1928T>C	c.(1927-1929)aTc>aCc	p.I643T	TMEM63B_ENST00000323267.6_Missense_Mutation_p.I643T			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	643					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACCTGCCCCATCATCGTGCCC	0.652											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													149	115	126					6																	44120421		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1928T>C	6.37:g.44120421T>C	ENSP00000259746:p.Ile643Thr	921	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.I643T	ENST00000259746.9	37	c.1928	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.118978|4.118978	0.77323|0.77323	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.35236|.	1.32;1.32|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Domain of unknown function DUF221 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70360|0.70360	0.3215|0.3215	M|M	0.83953|0.83953	2.67|2.67	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.39003|.	0.654|.	P|.	0.49252|.	0.604|.	T|T	0.74337|0.74337	-0.3698|-0.3698	10|5	0.87932|.	D|.	0|.	.|.	13.3662|13.3662	0.60684|0.60684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	643|.	Q5T3F8|.	TM63B_HUMAN|.	T|P	643|572	ENSP00000259746:I643T;ENSP00000327154:I643T|.	ENSP00000259746:I643T|.	I|S	+|+	2|1	0|0	TMEM63B|TMEM63B	44228399|44228399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	1.960000|1.960000	0.56953|0.56953	0.379000|0.379000	0.24179|0.24179	ATC|TCA	TMEM63B	-	pfam_DUF221		0.652	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	T	XM_166410		44120421	1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44120421	T	C	44120421	3	2	66	1	0	0	0	0	1	0	0	0	16221	1435	50	5	2002	5	TMEM63B	6	44120421	Missense_Mutation	SNP	T	TCGA-DS-A7WF-01A-11D-A351-09		44120421	126994646	16	10090										
TNFAIP3	7128	genome.wustl.edu	37	chr6	138202276	138202276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ctggcctgccgcagcgaggaGctctgcatggagtgtcagca	15	12	2	0	rs566459368		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr6:138202276G>T	ENST00000237289.4	+	9	2259	c.2193G>T	c.(2191-2193)gaG>gaT	p.E731D		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	731	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCAGCGAGGAGCTCTGCATGG	0.682			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											46	53	51					6																	138202276		2203	4300	6503	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2193G>T	6.37:g.138202276G>T	ENSP00000237289:p.Glu731Asp		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E731D	ENST00000237289.4	37	c.2193	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966781	0.34659	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	T	0.42900	0.96	5.67	-11.3	0.00108	Zinc finger, A20-type (3);	0.107790	0.64402	D	0.000005	T	0.12220	0.0297	L	0.49350	1.555	0.27643	N	0.947666	B	0.21309	0.054	B	0.20955	0.032	T	0.31888	-0.9927	10	0.14656	T	0.56	-16.437	17.4521	0.87595	0.2283:0.0841:0.6876:0.0	.	731	P21580	TNAP3_HUMAN	D	731	ENSP00000237289:E731D	ENSP00000237289:E731D	E	+	3	2	TNFAIP3	138243969	0.020000	0.18652	0.683000	0.30040	0.917000	0.54804	-0.843000	0.04350	-1.940000	0.01043	-0.635000	0.03985	GAG	TNFAIP3	-	pfam_Znf_A20,smart_Znf_A20		0.682	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	G			138202276	1	no_errors	ENST00000237289	ensembl	human	known	70_37	missense	SNP	0.091	T	T	138202276	G	T	138202276	3	4	66	1	0	0	0	0	1	0	0	0	16304	962	34	4	2223	4	TNFAIP3	6	138202276	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	94081855	138202276	32912791	17	10091										
ERICH1	157697	genome.wustl.edu	37	chr8	623556	623556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ctcctccctggcgtctttaaCgtcttcctccccggccggtg	9	18	2	0	rs552049087	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:623556C>A	ENST00000262109.7	-	4	873	c.796G>T	c.(796-798)Gtt>Ttt	p.V266F	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.V172F	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	266	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GCGTCTTTAACGTCTTCCTCC	0.637																																																	0													120	117	118					8																	623556		2203	4300	6503	SO:0001583	missense	157697				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.796G>T	8.37:g.623556C>A	ENSP00000262109:p.Val266Phe		A8K2J9|Q9P063	Missense_Mutation	SNP	NULL	p.V266F	ENST00000262109.7	37	c.796	CCDS5955.1	8	.	.	.	.	.	.	.	.	.	.	C	7.020	0.558567	0.13436	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.32988	1.43;1.46	0.571	0.571	0.17352	.	.	.	.	.	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	P;P;D	0.63880	0.759;0.876;0.993	B;B;P	0.49301	0.114;0.164;0.606	T	0.12218	-1.0556	9	0.09338	T	0.73	1.8262	6.9367	0.24470	0.0:0.9999:0.0:1.0E-4	.	266;266;172	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	F	266;172;266	ENSP00000428635:V172F;ENSP00000262109:V266F	ENSP00000262109:V266F	V	-	1	0	ERICH1	613556	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.099000	0.11007	0.569000	0.29329	0.411000	0.27672	GTT	ERICH1	-	NULL		0.637	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERICH1	HGNC	protein_coding	OTTHUMT00000251228.3	C	NM_207332		623556	-1	no_errors	ENST00000262109	ensembl	human	known	70_37	missense	SNP	0.017	A	A	623556	C	A	623556	3	1	66	1	0	0	0	0	1	0	0	0	5242	536	19	2	547	2	ERICH1	8	623556	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		623556	145740466	18	10092										
CHMP7	91782	genome.wustl.edu	37	chr8	23112868	23112868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	gtgctaactcctgcccagatGagaggaccttctacttggtg	11	11	1	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:23112868G>A	ENST00000397677.1	+	4	1228	c.580G>A	c.(580-582)Gag>Aag	p.E194K	CHMP7_ENST00000313219.7_Missense_Mutation_p.E194K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	194					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGCCCAGATGAGAGGACCTT	0.567																																																	0													102	94	96					8																	23112868		2203	4300	6503	SO:0001583	missense	91782			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.580G>A	8.37:g.23112868G>A	ENSP00000380794:p.Glu194Lys		B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	pfam_Snf7	p.E194K	ENST00000397677.1	37	c.580	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.214646	0.95104	.	.	ENSG00000147457	ENST00000397677;ENST00000313219;ENST00000519984	T;T	0.60040	0.22;0.22	5.79	5.79	0.91817	.	0.097299	0.64402	D	0.000001	T	0.68054	0.2959	M	0.62723	1.935	0.48696	D	0.999699	D;P	0.76494	0.999;0.956	P;P	0.60415	0.874;0.468	T	0.62793	-0.6779	10	0.22109	T	0.4	-25.4913	14.2275	0.65871	0.0:0.1493:0.8507:0.0	.	84;194	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	K	194;194;207	ENSP00000380794:E194K;ENSP00000324491:E194K	ENSP00000324491:E194K	E	+	1	0	CHMP7	23168813	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.330000	0.72925	2.726000	0.93360	0.655000	0.94253	GAG	CHMP7	-	NULL		0.567	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	HGNC	protein_coding	OTTHUMT00000254717.1	G	NM_152272		23112868	1	no_errors	ENST00000313219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23112868	G	A	23112868	3	1	66	1	0	0	0	0	1	0	0	0	3366	1291	45	1	590	1	CHMP7	8	23112868	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	22489312	23112868	123251154	19	10093										
NPBWR1	2831	genome.wustl.edu	37	chr8	53853152	53853152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tctataccaccctgctgtgcCggctgcatgccatgcggctg	11	15	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:53853152C>T	ENST00000331251.3	+	1	2162	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	229					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCTGCTGTGCCGGCTGCATGC	0.672																																																	0													26	16	19					8																	53853152		2178	4247	6425	SO:0001583	missense	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.685C>T	8.37:g.53853152C>T	ENSP00000330284:p.Arg229Trp		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.R229W	ENST00000331251.3	37	c.685	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046744	0.75846	.	.	ENSG00000183729	ENST00000331251	T	0.38240	1.15	5.32	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.257981	0.25083	N	0.033269	T	0.63117	0.2484	M	0.92970	3.365	0.39985	D	0.974979	D	0.89917	1.0	D	0.64877	0.93	T	0.69405	-0.5154	10	0.87932	D	0	.	9.1038	0.36685	0.4474:0.4341:0.1185:0.0	.	229	P48145	NPBW1_HUMAN	W	229	ENSP00000330284:R229W	ENSP00000330284:R229W	R	+	1	2	NPBWR1	54015705	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.720000	0.47252	0.797000	0.33971	0.655000	0.94253	CGG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt		0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	C	NM_005285		53853152	1	no_errors	ENST00000331251	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53853152	C	T	53853152	3	4	66	1	0	0	0	0	1	0	0	0	10592	643	23	2	687	2	NPBWR1	8	53853152	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	30740284	53853152	92510870	20	10094										
CNBD1	168975	genome.wustl.edu	37	chr8	88296944	88296944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tttgggactctggaagttatGcctcagaatgaatcggaaac	11	7	2	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:88296944G>T	ENST00000518476.1	+	7	861	c.810G>T	c.(808-810)atG>atT	p.M270I	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	270										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGGAAGTTATGCCTCAGAATG	0.393																																																	0													81	77	78					8																	88296944		1843	4084	5927	SO:0001583	missense	168975			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.810G>T	8.37:g.88296944G>T	ENSP00000430073:p.Met270Ile			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.M270I	ENST00000518476.1	37	c.810	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	g	0.750	-0.773105	0.02951	.	.	ENSG00000176571	ENST00000518476	D	0.96104	-3.91	4.31	1.89	0.25635	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.972720	0.03161	N	0.169334	D	0.83243	0.5212	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80745	-0.1245	10	0.02654	T	1	0.1578	5.0543	0.14524	0.7395:0.0:0.2605:0.0	.	270	Q8NA66	CNBD1_HUMAN	I	270	ENSP00000430073:M270I	ENSP00000430073:M270I	M	+	3	0	CNBD1	88366060	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.095000	0.11077	0.689000	0.31550	-0.374000	0.07098	ATG	CNBD1	-	superfamily_cNMP-bd-like		0.393	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	G	NM_173538		88296944	1	no_errors	ENST00000518476	ensembl	human	known	70_37	missense	SNP	0.000	T	T	88296944	G	T	88296944	3	4	66	1	0	0	0	0	1	0	0	0	3596	1319	46	4	836	4	CNBD1	8	88296944	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	34443792	88296944	58067078	21	10095										
SPATC1	375686	genome.wustl.edu	37	chr8	145094844	145094844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ccgtccccagcagtggcaaaCgaacgagtcctcgaagaagt	11	13	0	1	rs371082575		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:145094844C>T	ENST00000377470.3	+	2	348	c.246C>T	c.(244-246)aaC>aaT	p.N82N	SPATC1_ENST00000447830.2_Silent_p.N82N	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	82						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGTGGCAAACGAACGAGTCC	0.642																																																	0													76	82	80					8																	145094844		2203	4300	6503	SO:0001819	synonymous_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.246C>T	8.37:g.145094844C>T			B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	NULL	p.N82	ENST00000377470.3	37	c.246	CCDS6413.2	8																																																																																			SPATC1	-	NULL		0.642	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	C	NM_198572		145094844	1	no_errors	ENST00000377470	ensembl	human	known	70_37	silent	SNP	0.000	T	T	145094844	C	T	145094844	2	4	66	1	0	0	0	0	0	0	0	1	15047	535	19	2		2	SPATC1	8	145094844	Silent	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	56797900	145094844	1269178	22	10096										
USP20	10868	genome.wustl.edu	37	chr9	132637870	132637870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	cacaaataccactacatcgaCgacctggtggtcatcctgcc	7	15	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr9:132637870C>A	ENST00000315480.4	+	21	2408	c.2250C>A	c.(2248-2250)gaC>gaA	p.D750E	USP20_ENST00000372429.3_Missense_Mutation_p.D750E|USP20_ENST00000358355.1_Missense_Mutation_p.D750E			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	750	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACTACATCGACGACCTGGTGG	0.632																																																	0													105	109	108					9																	132637870		2024	4169	6193	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2250C>A	9.37:g.132637870C>A	ENSP00000313811:p.Asp750Glu		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.D750E	ENST00000315480.4	37	c.2250	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003586	0.35320	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.16457	2.34;2.34;2.34	5.47	-2.49	0.06403	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.047215	0.85682	D	0.000000	T	0.10895	0.0266	N	0.25201	0.72	0.49389	D	0.999784	D	0.55800	0.973	P	0.47251	0.542	T	0.18116	-1.0347	10	0.07990	T	0.79	.	12.6946	0.56997	0.0:0.1772:0.0:0.8228	.	750	Q9Y2K6	UBP20_HUMAN	E	750	ENSP00000361506:D750E;ENSP00000313811:D750E;ENSP00000351122:D750E	ENSP00000313811:D750E	D	+	3	2	USP20	131677691	0.079000	0.21365	0.975000	0.42487	0.928000	0.56348	-0.591000	0.05753	-0.550000	0.06183	-0.258000	0.10820	GAC	USP20	-	smart_Pept_C19_DUSP		0.632	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132637870	1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	0.997	A	A	132637870	C	A	132637870	3	1	66	1	0	0	0	0	1	0	0	0	17083	535	19	2	2324	2	USP20	9	132637870	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		132637870	8575561	23	10097										
ZNF37A	7587	genome.wustl.edu	37	chr10	38407121	38407121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	cccttactcaacatcaaagaAcgcacacaggggagaaacca	7	13	2	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:38407121A>G	ENST00000361085.5	+	7	1387	c.1042A>G	c.(1042-1044)Acg>Gcg	p.T348A	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T348A	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACATCAAAGAACGCACACAGG	0.408																																																	0													97	100	99					10																	38407121		2203	4300	6503	SO:0001583	missense	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1042A>G	10.37:g.38407121A>G	ENSP00000354377:p.Thr348Ala		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T348A	ENST00000361085.5	37	c.1042	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052844	0.55218	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.00966	5.49;5.49	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	L	0.51853	1.615	0.22827	N	0.998688	B	0.26809	0.16	B	0.26517	0.07	T	0.41627	-0.9498	9	0.87932	D	0	.	8.2277	0.31579	1.0:0.0:0.0:0.0	.	348	P17032	ZN37A_HUMAN	A	348	ENSP00000329141:T348A;ENSP00000354377:T348A	ENSP00000329141:T348A	T	+	1	0	ZNF37A	38447127	0.000000	0.05858	0.860000	0.33809	0.982000	0.71751	1.090000	0.30902	1.082000	0.41137	0.482000	0.46254	ACG	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	A	NM_003421		38407121	1	no_errors	ENST00000351773	ensembl	human	known	70_37	missense	SNP	0.742	G	G	38407121	A	G	38407121	3	3	66	1	0	0	0	0	1	0	0	0	17902	43	2	5	1056	5	ZNF37A	10	38407121	Missense_Mutation	SNP	A	TCGA-DS-A7WF-01A-11D-A351-09		38407121	97127626	24	10098										
TNKS2	80351	genome.wustl.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A													0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa							TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs		B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	-	NM_025235		93601946	1	no_errors	ENST00000371627	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	A	A	93601946	-	A	93601945	7	5	66	1	0	1	1	0	0	0	0	0	16351	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-DS-A7WF-01A-11D-A351-09	55194824	93601945	41932802	25	10099										
PDE6C	5146	genome.wustl.edu	37	chr10	95372693	95372693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	agctgctgtggaccgtgcagGaggaggggggcaccccagag	19	10	0	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:95372693G>A	ENST00000371447.3	+	1	349	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	71					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GACCGTGCAGGAGGAGGGGGG	0.662																																																	0													42	45	44					10																	95372693		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.211G>A	10.37:g.95372693G>A	ENSP00000360502:p.Glu71Lys		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E71K	ENST00000371447.3	37	c.211	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047916	0.36085	.	.	ENSG00000095464	ENST00000371447	T	0.69806	-0.43	5.19	5.19	0.71726	.	0.178028	0.39687	N	0.001291	T	0.62109	0.2401	L	0.42245	1.32	0.27666	N	0.946906	B	0.11235	0.004	B	0.09377	0.004	T	0.55952	-0.8059	10	0.48119	T	0.1	.	18.9021	0.92446	0.0:0.0:1.0:0.0	.	71	P51160	PDE6C_HUMAN	K	71	ENSP00000360502:E71K	ENSP00000360502:E71K	E	+	1	0	PDE6C	95362683	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	5.108000	0.64609	2.709000	0.92574	0.655000	0.94253	GAG	PDE6C	-	NULL		0.662	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	G	NM_006204		95372693	1	no_errors	ENST00000371447	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95372693	G	A	95372693	3	1	66	1	0	0	0	0	1	0	0	0	11671	1175	41	1	213	1	PDE6C	10	95372693	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	1770748	95372693	40162054	26	10100										
PI4K2A	55361	genome.wustl.edu	37	chr10	99416696	99416696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	actactgctccagtttgagcGgttggtggtgctggattaca	13	8	0	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:99416696G>T	ENST00000370631.3	+	4	944	c.887G>T	c.(886-888)cGg>cTg	p.R296L	PI4K2A_ENST00000370649.3_Missense_Mutation_p.R266L|PI4K2A_ENST00000555577.1_Missense_Mutation_p.R266L	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	296	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CAGTTTGAGCGGTTGGTGGTG	0.542																																																	0													89	82	85					10																	99416696		2203	4300	6503	SO:0001583	missense	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.887G>T	10.37:g.99416696G>T	ENSP00000359665:p.Arg296Leu		D3DR59|Q9NSG8	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.R296L	ENST00000370631.3	37	c.887	CCDS7469.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271100	0.80469	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.76839	-1.05;-1.05;-1.05	5.35	5.35	0.76521	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.92738	3.34	0.80722	D	1	D;P	0.65815	0.995;0.772	D;P	0.70935	0.971;0.733	D	0.92700	0.6174	10	0.66056	D	0.02	-18.4176	19.1115	0.93318	0.0:0.0:1.0:0.0	.	266;296	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	L	266;296;266	ENSP00000452243:R266L;ENSP00000359665:R296L;ENSP00000359683:R266L	ENSP00000359665:R296L	R	+	2	0	PI4K2A;RP11-548K23.11	99406686	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.527000	0.85204	0.585000	0.79938	CGG	PI4K2A	-	pfam_PI3/4_kinase_cat_dom		0.542	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049735.1	G	NM_018425		99416696	1	no_errors	ENST00000370631	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99416696	G	T	99416696	3	4	66	1	0	0	0	0	1	0	0	0	11895	1116	39	2	901	2	PI4K2A	10	99416696	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	4044003	99416696	36118051	27	10101										
CELF1	10658	genome.wustl.edu	37	chr11	47510459	47510459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tacacagcaccatactgttcGaagagttcccgcaagtcctt	7	13	0	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:47510459G>A	ENST00000358597.3	-	1	107	c.108C>T	c.(106-108)ttC>ttT	p.F36F	CELF1_ENST00000531165.1_Silent_p.F63F|CELF1_ENST00000310513.5_Silent_p.F36F|CELF1_ENST00000361904.3_Silent_p.F36F|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000532048.1_Silent_p.F63F|CELF1_ENST00000395292.2_Silent_p.F36F|CELF1_ENST00000395290.2_Silent_p.F36F			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.F36L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATACTGTTCGAAGAGTTCCC	0.493																																					Pancreas(163;1949 1966 9906 43218 43785)												1	Substitution - Missense(1)	lung(1)											155	155	155					11																	47510459		2201	4298	6499	SO:0001819	synonymous_variant	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.108C>T	11.37:g.47510459G>A			B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F63	ENST00000358597.3	37	c.189	CCDS31482.1	11																																																																																			CELF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.493	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF1	HGNC	protein_coding	OTTHUMT00000398352.1	G	NM_006560		47510459	-1	no_errors	ENST00000532048	ensembl	human	known	70_37	silent	SNP	0.992	A	A	47510459	G	A	47510459	2	1	66	1	0	0	0	0	0	0	0	1	3220	1049	37	1		1	CELF1	11	47510459	Silent	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		47510459	87496057	28	10102										
FOLH1	2346	genome.wustl.edu	37	chr11	49221891	49221891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	aggacatcataatgtgctagCtcaacagaatccaggccaaa	8	10	2	1	rs146289798	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:49221891C>T	ENST00000256999.2	-	3	587	c.327G>A	c.(325-327)gaG>gaA	p.E109E	FOLH1_ENST00000340334.7_Silent_p.E94E|FOLH1_ENST00000356696.3_Silent_p.E109E|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Silent_p.E94E	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	109					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATGTGCTAGCTCAACAGAAT	0.353													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		15585	0		0	False		,,,				2504	0																0								C	,,,,	13,4385	20.2+/-43.8	0,13,2186	70	71	71		327,282,282,,327	0.4	1	11	dbSNP_134	71	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	FOLH1	NM_001014986.1,NM_001193471.1,NM_001193472.1,NM_001193473.1,NM_004476.1	,,,,	0,13,6484	TT,TC,CC		0.0,0.2956,0.1	,,,,	109/720,94/736,94/705,,109/751	49221891	13,12981	2199	4298	6497	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.327G>A	11.37:g.49221891C>T			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.E109	ENST00000256999.2	37	c.327	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.353	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	C	NM_004476		49221891	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	0.997	T	T	49221891	C	T	49221891	2	4	66	1	0	0	0	0	0	0	0	1	5997	796	28	4		4	FOLH1	11	49221891	Silent	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	1711432	49221891	85784625	29	10103										
MPZL2	10205	genome.wustl.edu	37	chr11	118130861	118130861	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	acaattactattatgatcatCagtgcacaggcagagccaat	7	9	2	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:118130861C>T	ENST00000278937.2	-	4	620	c.492G>A	c.(490-492)ctG>ctA	p.L164L	MPZL2_ENST00000438295.2_Silent_p.L164L|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	164					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	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;3.04e-05)		TTATGATCATCAGTGCACAGG	0.433																																																	0													159	160	160					11																	118130861		2200	4296	6496	SO:0001819	synonymous_variant	10205			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.492G>A	11.37:g.118130861C>T			A8K2R1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.L164	ENST00000278937.2	37	c.492	CCDS8393.1	11																																																																																			MPZL2	-	prints_Myelin_P0		0.433	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MPZL2	HGNC	protein_coding	OTTHUMT00000392113.1	C	NM_005797		118130861	-1	no_errors	ENST00000438295	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118130861	C	T	118130861	2	4	66	1	0	0	0	0	0	0	0	1	9773	813	29	1		1	MPZL2	11	118130861	Silent	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	68908970	118130861	16875655	30	10104										
PKP2	5318	genome.wustl.edu	37	chr12	33030840	33030840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	gattcccacttccccctgcgGccgcctggccgacagtcaag	10	18	1	0	rs397517030|rs201803918		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr12:33030840G>A	ENST00000070846.6	-	3	998	c.974C>T	c.(973-975)gCc>gTc	p.A325V	PKP2_ENST00000340811.4_Missense_Mutation_p.A325V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	325					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCCCCCTGCGGCCGCCTGGCC	0.627																																																	0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	45	42	43		974,974	5.4	0.8	12		43	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PKP2	NM_001005242.2,NM_004572.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	325/838,325/882	33030840	2,13004	2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.974C>T	12.37:g.33030840G>A	ENSP00000070846:p.Ala325Val		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A325V	ENST00000070846.6	37	c.974	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584473	0.28268	0.0	2.33E-4	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;T	0.81659	-1.52;-1.44	5.37	5.37	0.77165	.	1.020360	0.07829	N	0.961039	T	0.80773	0.4687	L	0.59436	1.845	0.42015	D	0.990957	B;B;B	0.17268	0.021;0.012;0.012	B;B;B	0.16289	0.015;0.006;0.009	T	0.66320	-0.5953	10	0.35671	T	0.21	-5.5542	16.9233	0.86168	0.0:0.0:1.0:0.0	.	325;325;325	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	325	ENSP00000342800:A325V;ENSP00000070846:A325V	ENSP00000070846:A325V	A	-	2	0	PKP2	32922107	0.998000	0.40836	0.844000	0.33320	0.016000	0.09150	3.998000	0.57024	2.525000	0.85131	0.585000	0.79938	GCC	PKP2	-	NULL		0.627	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	G	NM_004572		33030840	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	missense	SNP	0.985	A	A	33030840	G	A	33030840	3	1	66	1	0	0	0	0	1	0	0	0	12009	1203	42	4	1719	4	PKP2	12	33030840	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		33030840	100821055	31	10105										
DNAJC14	85406	genome.wustl.edu	37	chr12	56221240	56221240	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	atattctgcttgacccaaggCaactccagccagccccactg	7	16	1	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr12:56221240C>G	ENST00000357606.3	-	3	1492	c.1203G>C	c.(1201-1203)ttG>ttC	p.L401F	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L401F|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.A31P|DNAJC14_ENST00000317287.5_Missense_Mutation_p.L401F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	401					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGACCCAAGGCAACTCCAGCC	0.557																																																	0													104	101	102					12																	56221240		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1203G>C	12.37:g.56221240C>G	ENSP00000350223:p.Leu401Phe		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L401F	ENST00000357606.3	37	c.1203	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.32|11.32	1.604956|1.604956	0.28623|0.28623	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	5.2|5.2	3.34|3.34	0.38264|0.38264	.|.	.|1.043170	.|0.07593	.|N	.|0.922318	T|T	0.25531|0.25531	0.0621|0.0621	L|L	0.27053|0.27053	0.805|0.805	0.23645|0.23645	N|N	0.99721|0.99721	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.20140|0.20140	-1.0284|-1.0284	5|10	.|0.19147	.|T	.|0.46	-1.6414|-1.6414	8.6406|8.6406	0.33974|0.33974	0.0:0.813:0.0:0.187|0.0:0.813:0.0:0.187	.|.	.|401;401	.|Q6Y2X3;A8K5A7	.|DJC14_HUMAN;.	P|F	31|401;401;111;401	.|ENSP00000350223:L401F;ENSP00000316240:L401F;ENSP00000317500:L401F	.|ENSP00000316240:L401F	A|L	-|-	1|3	0|2	RP11-762I7.5|DNAJC14	54507507|54507507	0.665000|0.665000	0.27466|0.27466	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.065000|0.065000	0.14466|0.14466	1.336000|1.336000	0.45506|0.45506	0.655000|0.655000	0.94253|0.94253	GCC|TTG	DNAJC14	-	NULL		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56221240	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56221240	C	G	56221240	3	3	66	1	0	0	0	0	1	0	0	0	4643	709	25	4	929	4	DNAJC14	12	56221240	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	23190400	56221240	77630655	32	10106										
BEST3	144453	genome.wustl.edu	37	chr12	70087583	70087583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	aagcaggcgcccgtgctcgtCgcttccgtgaacactgctag	12	14	0	1	rs143236582		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr12:70087583C>T	ENST00000330891.5	-	4	578	c.352G>A	c.(352-354)Gac>Aac	p.D118N	BEST3_ENST00000266661.4_Missense_Mutation_p.D12N|BEST3_ENST00000331471.4_Missense_Mutation_p.D118N|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Missense_Mutation_p.D12N|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.D12N|BEST3_ENST00000551160.1_Missense_Mutation_p.D12N	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	118					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCGTGCTCGTCGCTTCCGTGA	0.517																																																	0								C	ASN/ASP	0,4406		0,0,2203	96	84	88		352	5.9	1	12	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BEST3	NM_032735.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	118/669	70087583	1,13005	2203	4300	6503	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.352G>A	12.37:g.70087583C>T	ENSP00000332413:p.Asp118Asn		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D118N	ENST00000330891.5	37	c.352	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704385	0.88924	0.0	1.16E-4	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096;ENST00000552295;ENST00000266661;ENST00000551160;ENST00000393365	D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.91635	0.999;0.907	D	0.99301	1.0901	10	0.87932	D	0	-25.1811	20.2187	0.98312	0.0:1.0:0.0:0.0	.	118;118	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	N	118;118;12;12;12;12;12	ENSP00000329064:D118N;ENSP00000332413:D118N;ENSP00000449548:D12N;ENSP00000447689:D12N;ENSP00000266661:D12N;ENSP00000449377:D12N;ENSP00000377032:D12N	ENSP00000266661:D12N	D	-	1	0	BEST3	68373850	1.000000	0.71417	0.966000	0.40874	0.736000	0.42039	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GAC	BEST3	-	pfam_Bestrophin/UPF0187		0.517	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70087583	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70087583	C	T	70087583	3	4	66	1	0	0	0	0	1	0	0	0	1407	884	31	1	1682	1	BEST3	12	70087583	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	13866343	70087583	63764312	33	10107										
MTUS2	23281	genome.wustl.edu	37	chr13	30077199	30077199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	acccaggagaagaagagattGagccgaaccaatgaagagct	12	8	0	6			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr13:30077199G>A	ENST00000380808.2	+	9	1119	c.903G>A	c.(901-903)ttG>ttA	p.L301L	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_Silent_p.L1332L|MTUS2_ENST00000542829.1_Silent_p.L211L	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1322						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAAGAGATTGAGCCGAACCA	0.507																																																	0													80	91	88					13																	30077199		1984	4157	6141	SO:0001819	synonymous_variant	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.903G>A	13.37:g.30077199G>A			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.L1332	ENST00000380808.2	37	c.3996	CCDS41874.1	13																																																																																			MTUS2	-	NULL		0.507	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30077199	1	no_errors	ENST00000431530	ensembl	human	known	70_37	silent	SNP	0.994	A	A	30077199	G	A	30077199	2	1	66	1	0	0	0	0	0	0	0	1	9989	1281	45	1		1	MTUS2	13	30077199	Silent	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		30077199	85092679	34	10108										
SLITRK6	84189	genome.wustl.edu	37	chr13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ggctttcaattcctttttgtCgagatgcccgggggaagtgc	13	9	1	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458																																																	0													99	99	99					13																	86368987		1933	4130	6063	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1657G>A	13.37:g.86368987C>T	ENSP00000383143:p.Asp553Asn		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D553N	ENST00000400286.2	37	c.1657	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723689	0.03158	.	.	ENSG00000184564	ENST00000400286	T	0.02369	4.32	5.93	-1.22	0.09494	Cysteine-rich flanking region, C-terminal (1);	0.678779	0.13916	U	0.353868	T	0.01765	0.0056	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.32370	T	0.25	-0.3269	6.7726	0.23602	0.0:0.2843:0.2233:0.4924	.	553	Q9H5Y7	SLIK6_HUMAN	N	553	ENSP00000383143:D553N	ENSP00000383143:D553N	D	-	1	0	SLITRK6	85266988	0.017000	0.18338	0.000000	0.03702	0.174000	0.22865	1.266000	0.33039	-0.661000	0.05345	-0.794000	0.03295	GAC	SLITRK6	-	smart_Cys-rich_flank_reg_C		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86368987	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	0.000	T	T	86368987	C	T	86368987	3	4	66	1	0	0	0	0	1	0	0	0	14777	884	31	1	872	1	SLITRK6	13	86368987	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	56291788	86368987	28800891	35	10109										
MYO9A	4649	genome.wustl.edu	37	chr15	72144517	72144517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	agagttcaaaggtcatgagaGgattgggcaaatctcgaagc	13	6	3	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr15:72144517G>C	ENST00000356056.5	-	36	6903	c.6431C>G	c.(6430-6432)cCt>cGt	p.P2144R	MYO9A_ENST00000424560.1_Missense_Mutation_p.P2215R|MYO9A_ENST00000444904.1_Missense_Mutation_p.P2125R|MYO9A_ENST00000564571.1_Missense_Mutation_p.P2144R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2144	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGTCATGAGAGGATTGGGCAA	0.408																																																	0													103	94	97					15																	72144517		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6431C>G	15.37:g.72144517G>C	ENSP00000348349:p.Pro2144Arg		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.P2215R	ENST00000356056.5	37	c.6644	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874737	0.91664	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.58060	0.36;0.36;0.36	5.93	5.93	0.95920	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	D	0.84297	0.5441	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89354	0.3663	9	0.87932	D	0	.	20.3324	0.98724	0.0:0.0:1.0:0.0	.	2144;1908	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	R	2144;2215;2125	ENSP00000348349:P2144R;ENSP00000399162:P2215R;ENSP00000398250:P2125R	ENSP00000348349:P2144R	P	-	2	0	MYO9A	69931571	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.835000	0.99442	2.799000	0.96334	0.650000	0.86243	CCT	MYO9A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.408	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72144517	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72144517	G	C	72144517	3	2	66	1	0	0	0	0	1	0	0	0	10107	1000	35	4	1243	4	MYO9A	15	72144517	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		72144517	30386875	36	10110										
USP10	9100	genome.wustl.edu	37	chr16	84778704	84778704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	catgcccccgtcagttacgcCcaggacttgtaacagccccc	8	18	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr16:84778704C>T	ENST00000219473.7	+	4	730	c.617C>T	c.(616-618)cCc>cTc	p.P206L	USP10_ENST00000570191.1_Missense_Mutation_p.P210L|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	206					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCAGTTACGCCCAGGACTTGT	0.557																																																	0													28	28	28					16																	84778704		1977	4158	6135	SO:0001583	missense	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.617C>T	16.37:g.84778704C>T	ENSP00000219473:p.Pro206Leu		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19	p.P210L	ENST00000219473.7	37	c.629	CCDS45537.1	16	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746738	0.69418	.	.	ENSG00000103194	ENST00000219473	T	0.07688	3.17	5.17	4.22	0.49857	.	0.942527	0.09033	N	0.858471	T	0.20333	0.0489	M	0.67953	2.075	0.53688	D	0.999972	P;P	0.51240	0.943;0.905	P;P	0.50825	0.651;0.449	T	0.00915	-1.1516	10	0.87932	D	0	-3.5728	12.8339	0.57761	0.0:0.921:0.0:0.079	.	210;206	Q14694-3;Q14694	.;UBP10_HUMAN	L	206	ENSP00000219473:P206L	ENSP00000219473:P206L	P	+	2	0	USP10	83336205	0.004000	0.15560	0.905000	0.35620	0.938000	0.57974	2.005000	0.40864	1.179000	0.42884	0.491000	0.48974	CCC	USP10	-	NULL		0.557	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	C			84778704	1	no_errors	ENST00000570191	ensembl	human	known	70_37	missense	SNP	0.999	T	T	84778704	C	T	84778704	3	4	66	1	0	0	0	0	1	0	0	0	17072	623	22	4	631	4	USP10	16	84778704	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		84778704	5576049	37	10111										
STAC2	342667	genome.wustl.edu	37	chr17	37369376	37369376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	gaagaagccaacccggtcgcCgatcttgccctggggatgag	14	12	1	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr17:37369376C>A	ENST00000333461.5	-	10	1372	c.1003G>T	c.(1003-1005)Ggc>Tgc	p.G335C		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	335	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						ACCCGGTCGCCGATCTTGCCC	0.612																																																	0													50	54	52					17																	37369376		2203	4300	6503	SO:0001583	missense	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1003G>T	17.37:g.37369376C>A	ENSP00000327509:p.Gly335Cys		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.G335C	ENST00000333461.5	37	c.1003	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	c	16.49	3.137002	0.56936	.	.	ENSG00000141750	ENST00000333461	D	0.85702	-2.02	5.15	5.15	0.70609	Src homology-3 domain (5);	0.055536	0.64402	D	0.000001	D	0.92612	0.7653	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93484	0.6830	10	0.72032	D	0.01	0.1024	17.3884	0.87423	0.0:1.0:0.0:0.0	.	335	Q6ZMT1	STAC2_HUMAN	C	335	ENSP00000327509:G335C	ENSP00000327509:G335C	G	-	1	0	STAC2	34622902	0.866000	0.29940	0.702000	0.30337	0.010000	0.07245	5.112000	0.64634	2.405000	0.81733	0.462000	0.41574	GGC	STAC2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.612	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	C	NM_198993		37369376	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	missense	SNP	0.993	A	A	37369376	C	A	37369376	3	1	66	1	0	0	0	0	1	0	0	0	15270	652	23	2	240	2	STAC2	17	37369376	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		37369376	43825834	38	10112										
GRB7	2886	genome.wustl.edu	37	chr17	37899650	37899650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	acttgtctacccacagcactCcctgttcccagaaaaaatgg	6	14	1	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr17:37899650C>A	ENST00000309156.4	+	6	847	c.590C>A	c.(589-591)tCc>tAc	p.S197Y	GRB7_ENST00000309185.3_Missense_Mutation_p.S197Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.S197Y|GRB7_ENST00000445327.2_Missense_Mutation_p.S220Y|GRB7_ENST00000394204.1_Missense_Mutation_p.S197Y|GRB7_ENST00000394211.3_Missense_Mutation_p.S197Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	197					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACAGCACTCCCTGTTCCCA	0.577																																																	0													137	122	127					17																	37899650		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.590C>A	17.37:g.37899650C>A	ENSP00000310771:p.Ser197Tyr		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.S220Y	ENST00000309156.4	37	c.659	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549761	0.27652	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.54866	0.55;1.68;1.68;1.68;1.67;0.55	5.31	5.31	0.75309	.	0.574893	0.20105	N	0.099155	T	0.41073	0.1143	N	0.11927	0.2	0.36655	D	0.87762	D;B	0.56035	0.974;0.005	P;B	0.51135	0.66;0.011	T	0.28364	-1.0046	10	0.02654	T	1	-29.0821	15.9994	0.80280	0.0:1.0:0.0:0.0	.	197;197	Q14451-2;Q14451	.;GRB7_HUMAN	Y	197;197;197;197;220;197	ENSP00000311752:S197Y;ENSP00000310771:S197Y;ENSP00000377761:S197Y;ENSP00000377759:S197Y;ENSP00000403459:S220Y;ENSP00000377754:S197Y	ENSP00000310771:S197Y	S	+	2	0	GRB7	35153176	0.646000	0.27295	1.000000	0.80357	0.746000	0.42486	0.579000	0.23788	2.768000	0.95171	0.561000	0.74099	TCC	GRB7	-	NULL		0.577	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	C	NM_005310		37899650	1	no_errors	ENST00000445327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37899650	C	A	37899650	3	1	66	1	0	0	0	0	1	0	0	0	6779	855	30	3	608	3	GRB7	17	37899650	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	530274	37899650	43295560	39	10113										
RNF125	54941	genome.wustl.edu	37	chr18	29598847	29598847	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	atgggctccgtgctgagcacCgacagcggcaaatcggcgcc	14	14	0	1	rs34097443	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr18:29598847C>A	ENST00000217740.3	+	1	513	c.21C>A	c.(19-21)acC>acA	p.T7T	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	7					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGCTGAGCACCGACAGCGGCA	0.692																																																	0													13	14	14					18																	29598847		2195	4291	6486	SO:0001819	synonymous_variant	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.21C>A	18.37:g.29598847C>A			Q9NX39	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T7	ENST00000217740.3	37	c.21	CCDS11902.1	18																																																																																			RNF125	-	NULL		0.692	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	C	NM_017831		29598847	1	no_errors	ENST00000217740	ensembl	human	known	70_37	silent	SNP	0.999	A	A	29598847	C	A	29598847	2	1	66	1	0	0	0	0	0	0	0	1	13464	639	23	2		2	RNF125	18	29598847	Silent	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		29598847	48478401	40	10114										
SLC27A1	376497	genome.wustl.edu	37	chr19	17597707	17597707	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	cctgcggcgcgagcccctggCcttctgcctgggcacctcgg	14	18	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:17597707C>G	ENST00000252595.7	+	2	600	c.503C>G	c.(502-504)gCc>gGc	p.A168G	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A168G|SLC27A1_ENST00000598424.1_5'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	168					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGCCCCTGGCCTTCTGCCTG	0.711																																																	0													14	17	16					19																	17597707		2193	4291	6484	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.503C>G	19.37:g.17597707C>G	ENSP00000252595:p.Ala168Gly		A6NIH2|B7Z662	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A168G	ENST00000252595.7	37	c.503	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537781	0.27475	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.48201	0.82;0.82	4.92	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.369036	0.29080	N	0.013217	T	0.49508	0.1561	M	0.82323	2.585	0.09310	N	0.999999	B	0.26602	0.154	B	0.36186	0.219	T	0.50792	-0.8786	10	0.52906	T	0.07	.	4.3448	0.11127	0.1557:0.5756:0.0:0.2686	.	168	Q6PCB7	S27A1_HUMAN	G	168;168;30	ENSP00000413424:A168G;ENSP00000252595:A168G	ENSP00000252595:A168G	A	+	2	0	SLC27A1	17458707	0.001000	0.12720	0.931000	0.37212	0.603000	0.37013	1.040000	0.30278	0.490000	0.27771	0.561000	0.74099	GCC	SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.711	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	C	NM_198580		17597707	1	no_errors	ENST00000252595	ensembl	human	known	70_37	missense	SNP	0.029	G	G	17597707	C	G	17597707	3	3	66	1	0	0	0	0	1	0	0	0	14555	739	26	4	509	4	SLC27A1	19	17597707	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		17597707	41531276	41	10115										
ZFP112	7771	genome.wustl.edu	37	chr19	44831989	44831989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	tgaaaccctttgtacacaccTcacatttgtatggtttccct	5	12	1	1	rs2609881	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:44831989T>A	ENST00000337401.4	-	5	2427	c.2339A>T	c.(2338-2340)gAg>gTg	p.E780V	ZNF112_ENST00000536500.1_Missense_Mutation_p.E797V|ZNF112_ENST00000354340.4_Missense_Mutation_p.E774V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	780			E -> A (in dbSNP:rs2609881).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTACACACCTCACATTTGTA	0.478																																																	0													224	211	215					19																	44831989		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2339A>T	19.37:g.44831989T>A	ENSP00000337081:p.Glu780Val		A4FU53|Q9HCA7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E797V	ENST00000337401.4	37	c.2390	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597764	0.28445	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.07800	3.16;3.16;3.16	5.18	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240848	0.21440	N	0.074510	T	0.08626	0.0214	L	0.52206	1.635	0.80722	P	0.0	P;B;B	0.34864	0.473;0.418;0.326	B;B;B	0.35182	0.197;0.124;0.197	T	0.13019	-1.0525	9	0.37606	T	0.19	-4.5387	9.0429	0.36329	0.1285:0.0:0.5287:0.3428	.	779;797;780	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	V	780;780;774;797;779	ENSP00000337081:E780V;ENSP00000346305:E774V;ENSP00000441990:E797V	ENSP00000253426:E779V	E	-	2	0	ZNF285	49523829	0.000000	0.05858	0.181000	0.23098	0.976000	0.68499	-1.254000	0.02874	0.019000	0.15079	0.460000	0.39030	GAG	ZFP112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	T	NM_013380		44831989	-1	no_errors	ENST00000536500	ensembl	human	known	70_37	missense	SNP	0.000	A	A	44831989	T	A	44831989	3	1	66	1	0	0	0	0	1	0	0	0	17668	1551	54	5	406	5	ZFP112	19	44831989	Missense_Mutation	SNP	T	TCGA-DS-A7WF-01A-11D-A351-09	27234282	44831989	14296994	42	10116										
ZC3H4	23211	genome.wustl.edu	37	chr19	47597687	47597687	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	cttcttcgacctccttttctCtttctcccgctctttcttcc	2	18	5	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:47597687C>A	ENST00000253048.5	-	3	377	c.340G>T	c.(340-342)Gag>Tag	p.E114*	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	114							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCCTTTTCTCTTTCTCCCGC	0.552																																																	0													330	344	339					19																	47597687		1946	4129	6075	SO:0001587	stop_gained	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.340G>T	19.37:g.47597687C>A	ENSP00000253048:p.Glu114*		Q9Y420	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E114*	ENST00000253048.5	37	c.340	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.378455	0.97520	.	.	ENSG00000130749	ENST00000253048	.	.	.	6.05	5.0	0.66597	.	0.225342	0.38959	N	0.001513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.4557	0.75311	0.1401:0.8599:0.0:0.0	.	.	.	.	X	114	.	ENSP00000253048:E114X	E	-	1	0	ZC3H4	52289527	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.440000	0.59975	1.519000	0.48950	0.650000	0.86243	GAG	ZC3H4	-	NULL		0.552	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	C			47597687	-1	no_errors	ENST00000253048	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	47597687	C	A	47597687	4	1	66	1	0	0	0	0	0	1	0	0	17600	922	32	3	3623	3	ZC3H4	19	47597687	Nonsense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09	2765698	47597687	11531296	43	10117										
RIMS4	140730	genome.wustl.edu	37	chr20	43386811	43386811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	cgtccgacgccaggcaaactCctccatagttaaggctgcaa	9	14	0	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr20:43386811C>T	ENST00000372851.3	-	3	317	c.251G>A	c.(250-252)gGa>gAa	p.G84E	RIMS4_ENST00000541604.2_Missense_Mutation_p.G85E	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	84					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CAGGCAAACTCCTCCATAGTT	0.562																																																	0													36	33	34					20																	43386811		2203	4300	6503	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.251G>A	20.37:g.43386811C>T	ENSP00000361942:p.Gly84Glu		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G85E	ENST00000372851.3	37	c.254	CCDS13338.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.209847	0.95069	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.20598	2.11;2.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.67397	2.05	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54590	0.67;0.756	T	0.29243	-1.0018	10	0.72032	D	0.01	.	19.0638	0.93101	0.0:1.0:0.0:0.0	.	85;84	E1P613;Q9H426	.;RIMS4_HUMAN	E	84;85	ENSP00000361942:G84E;ENSP00000439287:G85E	ENSP00000361942:G84E	G	-	2	0	RIMS4	42820225	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.814000	0.86154	2.505000	0.84491	0.655000	0.94253	GGA	RIMS4	-	NULL		0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	C	NM_182970		43386811	-1	no_errors	ENST00000541604	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43386811	C	T	43386811	3	4	66	1	0	0	0	0	1	0	0	0	13400	855	30	1	574	1	RIMS4	20	43386811	Missense_Mutation	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		43386811	19638709	44	10118										
GSTT2	653689	genome.wustl.edu	37	chr22	24302513	24302513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	atgaaatcaccatccttgagCgtcggcagtttccccaggct	9	13	1	2			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr22:24302513C>T	ENST00000290765.4	-	2	222	c.168G>A	c.(166-168)acG>acA	p.T56T	GSTT2B_ENST00000404172.3_Silent_p.T56T	NM_001080843.2	NP_001074312.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2B (gene/pseudogene)	56	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)										CATCCTTGAGCGTCGGCAGTT	0.547																																																	0													3	3	3					22																	24302513		1433	2800	4233	SO:0001819	synonymous_variant	653689			BC071700	CCDS33617.1	22q11.23	2012-06-21			ENSG00000133433	ENSG00000133433	2.5.1.18	"Glutathione S-transferases / Soluble"	33437	protein-coding gene	gene with protein product						9729470	Standard	NM_001080843		Approved	GSTT2P		P0CG30	OTTHUMG00000150774	ENST00000290765.4:c.168G>A	22.37:g.24302513C>T			O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.T56	ENST00000290765.4	37	c.168	CCDS33617.1	22																																																																																			GSTT2B	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.547	GSTT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2B	HGNC	protein_coding	OTTHUMT00000320012.1	C	NM_001080843		24302513	-1	no_errors	ENST00000290765	ensembl	human	known	70_37	silent	SNP	0.001	T	T	24302513	C	T	24302513	2	4	66	1	0	0	0	0	0	0	0	1	6866	755	27	2		2	GSTT2	22	24302513	Silent	SNP	C	TCGA-DS-A7WF-01A-11D-A351-09		24302513	27002053	45	10119										
GSTT2	2953	genome.wustl.edu	37	chr22	24323194	24323194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	agcctggggaaactgccgacGctcaaggatggtgatttcat	13	9	2	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr22:24323194G>A	ENST00000215780.5	+	2	218	c.168G>A	c.(166-168)acG>acA	p.T56T	DDT_ENST00000350608.3_5'Flank|GSTT2_ENST00000402588.3_Silent_p.T56T|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	56	GST N-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.T56T(1)		lung(1)	1						AACTGCCGACGCTCAAGGATG	0.557																																																	1	Substitution - coding silent(1)	lung(1)											347	285	306					22																	24323194		2203	4298	6501	SO:0001819	synonymous_variant	2953			L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"Glutathione S-transferases / Soluble"	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.168G>A	22.37:g.24323194G>A			O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.T56	ENST00000215780.5	37	c.168	CCDS13821.1	22																																																																																			GSTT2	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.557	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2	HGNC	protein_coding	OTTHUMT00000320080.1	G	NM_000854		24323194	1	no_errors	ENST00000215780	ensembl	human	known	70_37	silent	SNP	0.001	A	A	24323194	G	A	24323194	2	1	66	1	0	0	0	0	0	0	0	1	6866	1074	38	2		2	GSTT2	22	24323194	Silent	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	20681	24323194	26981372	46	10120										
AWAT1	158833	genome.wustl.edu	37	chrX	69455618	69455618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ctgtttacatccttgtggccGctaccagtgctttactttgc	8	12	0	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chrX:69455618G>A	ENST00000374521.3	+	2	170	c.129G>A	c.(127-129)ccG>ccA	p.P43P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	43					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCTTGTGGCCGCTACCAGTGC	0.488																																																	0													300	225	250					X																	69455618		2203	4300	6503	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.129G>A	X.37:g.69455618G>A			Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.P43	ENST00000374521.3	37	c.129	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT		0.488	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	G	NM_001013579		69455618	1	no_errors	ENST00000374521	ensembl	human	known	70_37	silent	SNP	0.000	A	A	69455618	G	A	69455618	2	1	66	1	0	0	0	0	0	0	0	1	1235	1074	38	2		2	AWAT1	23	69455618	Silent	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09		69455618	85814942	47	10121										
MED12	9968	genome.wustl.edu	37	chrX	70338671	70338671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	ggccgcggctggggcctcccGatgtttaccctcaggacccc	13	17	1	0			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chrX:70338671G>T	ENST00000374080.3	+	1	99	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_ENST00000374102.1_Missense_Mutation_p.D23Y|MED12_ENST00000333646.6_Missense_Mutation_p.D23Y			Q93074	MED12_HUMAN	mediator complex subunit 12	23					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.D23Y(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCCTCCCGATGTTTACCC	0.677			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - Missense(2)	endometrium(2)											13	14	14					X																	70338671		1798	4039	5837	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.67G>T	X.37:g.70338671G>T	ENSP00000363193:p.Asp23Tyr		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.D23Y	ENST00000374080.3	37	c.67	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	31	5.063784	0.93898	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.73363	-0.74;-0.72;-0.73	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.84705	0.5531	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.87205	0.2243	10	0.87932	D	0	-12.2737	16.5123	0.84289	0.0:0.0:1.0:0.0	.	23;23;23	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	Y	23	ENSP00000333125:D23Y;ENSP00000363215:D23Y;ENSP00000363193:D23Y	ENSP00000333125:D23Y	D	+	1	0	MED12	70255396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.367000	0.90113	2.007000	0.58848	0.431000	0.28591	GAT	MED12	-	NULL		0.677	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	G	NM_005120		70338671	1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70338671	G	T	70338671	3	4	66	1	0	0	0	0	1	0	0	0	9451	1058	37	3	69	3	MED12	23	70338671	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	883053	70338671	84931889	48	10122										
ATP2B3	492	genome.wustl.edu	37	chrX	152801868	152801868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0816326530612245	4	0.339467648182025	1.50358484124275	0	1.74415841584158	0.0606060606060606	0.178145087235996	0	agatcgaggaggcctacgggGatgtcagcgggctctgccgg	18	10	2	1			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chrX:152801868G>T	ENST00000349466.2	+	2	489	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	ATP2B3_ENST00000263519.4_Missense_Mutation_p.D55Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.D55Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.D55Y|ATP2B3_ENST00000370186.1_Missense_Mutation_p.D55Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.D55Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	55					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTACGGGGATGTCAGCGG	0.677																																																	0													39	37	38					X																	152801868		2195	4297	6492	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.163G>T	X.37:g.152801868G>T	ENSP00000343886:p.Asp55Tyr		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D55Y	ENST00000349466.2	37	c.163	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980993	0.74474	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.79	5.79	0.91817	ATPase, P-type cation-transporter, N-terminal (2);	0.054001	0.64402	D	0.000001	D	0.95085	0.8408	M	0.85859	2.78	0.51233	D	0.999916	D;D	0.61080	0.989;0.989	D;D	0.75484	0.986;0.975	D	0.95561	0.8629	10	0.87932	D	0	-8.2725	17.6305	0.88106	0.0:0.0:1.0:0.0	.	55;55	Q16720;Q16720-2	AT2B3_HUMAN;.	Y	55	ENSP00000359205:D55Y;ENSP00000343886:D55Y;ENSP00000377425:D55Y;ENSP00000352062:D55Y;ENSP00000263519:D55Y;ENSP00000359200:D55Y	ENSP00000263519:D55Y	D	+	1	0	ATP2B3	152455062	0.995000	0.38212	0.945000	0.38365	0.400000	0.30750	6.766000	0.74970	2.435000	0.82474	0.600000	0.82982	GAT	ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N		0.677	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152801868	1	no_errors	ENST00000263519	ensembl	human	known	70_37	missense	SNP	0.998	T	T	152801868	G	T	152801868	3	4	66	1	0	0	0	0	1	0	0	0	1142	1174	41	3	165	3	ATP2B3	23	152801868	Missense_Mutation	SNP	G	TCGA-DS-A7WF-01A-11D-A351-09	82463197	152801868	2468692	49	10123										
AGRN	375790	genome.wustl.edu	37	chr1	980904	980907	+	Splice_Site	DEL	GTGA	GTGA	-													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tggccggagtggctgtacacGtgagtgacagggcccaggac							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	GTGA	GTGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:980904_980907delGTGA	ENST00000379370.2	+	14	2586		c.e14+1			NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin						axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCTGTACACGTGAGTGACAGGGC	0.652																																																	0																																										SO:0001630	splice_region_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2536+1GTGA>-	1.37:g.980908_980911delGTGA			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Splice_Site	DEL	-	e14+1	ENST00000379370.2	37	c.2536+1_2536+1	CCDS30551.1	1																																																																																			AGRN	-	-		0.652	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	GTGA	NM_198576	Intron	980907	1	no_errors	ENST00000379370	ensembl	human	known	70_37	splice_site_del	DEL	1.000:1.000:1.000:1.000	-	-	980907	GTGA	-	980904	8	5	67	1	0	1	0	1	0	0	1	0	397	1159	40	0	2591	0	AGRN	1	980904	Splice_Site	DEL	GTGA	TCGA-DS-A7WH-01A-22D-A351-09		980904	248269717	1	10124										
SLC35E2	728661	genome.wustl.edu	37	chr1	1601573	1601573	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ccccgctgagcagcttttttGaaaaaacattttgcaaacta	6	10	0	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:1601573G>A	ENST00000378662.1	-	7	1485	c.725C>T	c.(724-726)tCa>tTa	p.S242L	RP11-345P4.7_ENST00000596308.1_RNA|SLC35E2B_ENST00000234800.6_Missense_Mutation_p.S242L			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	242						integral component of membrane (GO:0016021)				kidney(1)|lung(1)	2						CAGCTTTTTTGAAAAAACATT	0.438																																																	0													124	104	110					1																	1601573		692	1591	2283	SO:0001583	missense	728661				CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"Solute carriers"	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.725C>T	1.37:g.1601573G>A	ENSP00000367931:p.Ser242Leu		B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Missense_Mutation	SNP	pfam_DUF250,pfam_DMT,pfam_UAA	p.S242L	ENST00000378662.1	37	c.725	CCDS44041.1	1	.	.	.	.	.	.	.	.	.	.	g	34	5.382117	0.95967	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	T;T	0.65178	-0.14;-0.14	5.64	5.64	0.86602	Domain of unknown function DUF250 (1);	0.081437	0.51477	D	0.000099	D	0.82604	0.5073	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.84569	0.0654	10	0.59425	D	0.04	-21.178	18.681	0.91546	0.0:0.0:1.0:0.0	.	242	P0CK96	S352B_HUMAN	L	242	ENSP00000367931:S242L;ENSP00000234800:S242L	ENSP00000234800:S242L	S	-	2	0	SLC35E2B	1591436	1.000000	0.71417	0.976000	0.42696	0.974000	0.67602	8.476000	0.90421	2.650000	0.89964	0.585000	0.79938	TCA	SLC35E2B	-	pfam_DUF250,pfam_DMT,pfam_UAA		0.438	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35E2B	HGNC	protein_coding	OTTHUMT00000171589.1	G			1601573	-1	no_errors	ENST00000234800	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1601573	G	A	1601573	3	1	67	1	0	0	0	0	1	0	0	0	14615	1294	45	1	508	1	SLC35E2	1	1601573	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	620669	1601573	247649048	2	10125										
CHD5	26038	genome.wustl.edu	37	chr1	6170487	6170487	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gccaggaacttgttcttcatCtccaggtagttgcccttgtg	10	11	3	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:6170487C>T	ENST00000262450.3	-	37	5448	c.5349G>A	c.(5347-5349)gaG>gaA	p.E1783E	CHD5_ENST00000378021.1_Silent_p.E640E	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGTTCTTCATCTCCAGGTAGT	0.597																																																	0													133	134	134					1																	6170487		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5349G>A	1.37:g.6170487C>T			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1783	ENST00000262450.3	37	c.5349	CCDS57.1	1																																																																																			CHD5	-	pfam_CHD_C2		0.597	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	C	NM_015557		6170487	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6170487	C	T	6170487	2	4	67	1	0	0	0	0	0	0	0	1	3333	912	32	1		1	CHD5	1	6170487	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	4568914	6170487	243080134	3	10126										
CASZ1	54897	genome.wustl.edu	37	chr1	10699830	10699830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tccagcaccaggttgtccacGcggtcgtggtgctgcgcgtg	15	13	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:10699830G>A	ENST00000377022.3	-	21	4766	c.4449C>T	c.(4447-4449)cgC>cgT	p.R1483R	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1483					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTTGTCCACGCGGTCGTGGT	0.627																																																	0													42	58	53					1																	10699830		2178	4278	6456	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4449C>T	1.37:g.10699830G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1483	ENST00000377022.3	37	c.4449	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.627	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10699830	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10699830	G	A	10699830	2	1	67	1	0	0	0	0	0	0	0	1	2690	1074	38	2		2	CASZ1	1	10699830	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	4529343	10699830	238550791	4	10127										
MFN2	9927	genome.wustl.edu	37	chr1	12065800	12065800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ccctccttcctgtgtctgtgCggagtcagatagacatgctg	11	12	2	2	rs146092040		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:12065800C>T	ENST00000235329.5	+	15	1850	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	MFN2_ENST00000444836.1_Missense_Mutation_p.R510W	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	510					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.R510W(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGTCTGTGCGGAGTCAGAT	0.522																																																	1	Substitution - Missense(1)	skin(1)						C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	250	247	248		1528,1528	4.9	1	1	dbSNP_134	248	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MFN2	NM_001127660.1,NM_014874.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	510/758,510/758	12065800	1,13005	2203	4300	6503	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1528C>T	1.37:g.12065800C>T	ENSP00000235329:p.Arg510Trp		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.R510W	ENST00000235329.5	37	c.1528	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874575	0.72180	0.0	1.16E-4	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.86366	-2.11;-2.11	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.90655	0.7069	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.88674	0.3197	10	0.33940	T	0.23	-33.3454	12.7932	0.57545	0.1634:0.8366:0.0:0.0	.	510	O95140	MFN2_HUMAN	W	510;510;208	ENSP00000416338:R510W;ENSP00000235329:R510W	ENSP00000235329:R510W	R	+	1	2	MFN2	11988387	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.600000	0.36762	2.753000	0.94483	0.555000	0.69702	CGG	MFN2	-	NULL		0.522	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	C	NM_014874		12065800	1	no_errors	ENST00000235329	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12065800	C	T	12065800	3	4	67	1	0	0	0	0	1	0	0	0	9547	759	27	2	1578	2	MFN2	1	12065800	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	1365970	12065800	237184821	5	10128										
TRIM63	84676	genome.wustl.edu	37	chr1	26387774	26387774	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	agacagtagatgttgattttCtcatcttcgtgctccttgca	8	9	2	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:26387774C>G	ENST00000374272.3	-	3	522	c.384G>C	c.(382-384)gaG>gaC	p.E128D	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	128	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTGATTTTCTCATCTTCGT	0.572																																																	0													153	114	127					1																	26387774		2203	4300	6503	SO:0001583	missense	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.384G>C	1.37:g.26387774C>G	ENSP00000363390:p.Glu128Asp		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E128D	ENST00000374272.3	37	c.384	CCDS273.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380349	0.82682	.	.	ENSG00000158022	ENST00000374272	T	0.48522	0.81	5.12	3.24	0.37175	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	H	0.96015	3.755	0.50039	D	0.999847	D	0.89917	1.0	D	0.81914	0.995	T	0.77531	-0.2553	10	0.87932	D	0	.	8.7111	0.34385	0.0:0.7627:0.0:0.2373	.	128	Q969Q1	TRI63_HUMAN	D	128	ENSP00000363390:E128D	ENSP00000363390:E128D	E	-	3	2	TRIM63	26260361	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.751000	0.38339	0.659000	0.30945	0.591000	0.81541	GAG	TRIM63	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box		0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1	C	NM_032588		26387774	-1	no_errors	ENST00000374272	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26387774	C	G	26387774	3	3	67	1	0	0	0	0	1	0	0	0	16569	912	32	1	705	1	TRIM63	1	26387774	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	14321974	26387774	222862847	6	10129										
ARID1A	8289	genome.wustl.edu	37	chr1	27088756	27088756	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	acacaggcatgggctcctacCagcagaactccatggggagc	12	13	0	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:27088756C>T	ENST00000324856.7	+	7	2736	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q406*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q789*|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	789					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGCTCCTACCAGCAGAACTC	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													64	66	66					1																	27088756		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2365C>T	1.37:g.27088756C>T	ENSP00000320485:p.Gln789*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q789*	ENST00000324856.7	37	c.2365	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.754343	0.98471	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.43	5.43	0.79202	.	0.115946	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-7.2596	19.428	0.94751	0.0:1.0:0.0:0.0	.	.	.	.	X	789;789;406	.	ENSP00000320485:Q789X	Q	+	1	0	ARID1A	26961343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.081000	0.76844	2.824000	0.97209	0.655000	0.94253	CAG	ARID1A	-	NULL		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27088756	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27088756	C	T	27088756	4	4	67	1	0	0	0	0	0	1	0	0	913	595	21	4	2391	4	ARID1A	1	27088756	Nonsense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	700982	27088756	222161865	7	10130										
GJB5	2709	genome.wustl.edu	37	chr1	35222961	35222961	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	agtatctttgagggactcctGagtggggtcaacaagtactc	12	8	2	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:35222961G>A	ENST00000338513.1	+	2	203	c.30G>A	c.(28-30)ctG>ctA	p.L10L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	10					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				AGGGACTCCTGAGTGGGGTCA	0.532																																																	0													93	85	88					1																	35222961		2203	4300	6503	SO:0001819	synonymous_variant	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.30G>A	1.37:g.35222961G>A			Q9UPA3	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311	p.L10	ENST00000338513.1	37	c.30	CCDS382.1	1																																																																																			GJB5	-	pfam_Connexin_N		0.532	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB5	HGNC	protein_coding	OTTHUMT00000011561.1	G	NM_005268		35222961	1	no_errors	ENST00000338513	ensembl	human	known	70_37	silent	SNP	0.942	A	A	35222961	G	A	35222961	2	1	67	1	0	0	0	0	0	0	0	1	6430	1277	45	1		1	GJB5	1	35222961	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	8134205	35222961	214027660	8	10131										
TRIT1	54802	genome.wustl.edu	37	chr1	40307502	40307502	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atggtctggggaaacactctGactttctatggtgttgacag	12	7	3	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:40307502G>A	ENST00000316891.5	-	11	1332	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	TRIT1_ENST00000537440.1_Nonsense_Mutation_p.Q136*|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000545233.1_Nonsense_Mutation_p.Q194*|TRIT1_ENST00000537223.1_Nonsense_Mutation_p.Q136*|TRIT1_ENST00000541099.1_Nonsense_Mutation_p.Q58*|TRIT1_ENST00000441669.2_Nonsense_Mutation_p.Q358*|TRIT1_ENST00000372818.1_Nonsense_Mutation_p.Q414*	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	440					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAACACTCTGACTTTCTATG	0.423																																																	0													282	266	272					1																	40307502		2203	4300	6503	SO:0001587	stop_gained	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1318C>T	1.37:g.40307502G>A	ENSP00000321810:p.Gln440*		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Nonsense_Mutation	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.Q440*	ENST00000316891.5	37	c.1318	CCDS30681.1	1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762622	0.31228	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223;ENST00000541099	.	.	.	5.93	5.0	0.66597	.	0.665977	0.14630	N	0.307899	.	.	.	.	.	.	0.44247	D	0.997094	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-4.2851	14.9269	0.70887	0.0:0.1426:0.8573:0.0	.	.	.	.	X	414;358;352;440;414;333;194;136;136;58	.	ENSP00000046894:Q414X	Q	-	1	0	TRIT1	40080089	0.884000	0.30299	0.315000	0.25238	0.126000	0.20510	3.364000	0.52328	1.467000	0.48044	0.655000	0.94253	CAG	TRIT1	-	NULL		0.423	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	G	NM_017646		40307502	-1	no_errors	ENST00000316891	ensembl	human	known	70_37	nonsense	SNP	0.106	A	A	40307502	G	A	40307502	4	1	67	1	0	0	0	0	0	1	0	0	16591	1299	45	1	89	1	TRIT1	1	40307502	Nonsense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	5084541	40307502	208943119	9	10132										
CCBL2	56267	genome.wustl.edu	37	chr1	89430628	89430628	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ttgataaagcttttcatacaGataggacagagctttcacaa	7	7	2	3	rs138622110		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr1:89430628G>A	ENST00000260508.4	-	5	674	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	CCBL2_ENST00000370485.2_Silent_p.L113L|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Silent_p.L79L	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	113					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TTTTCATACAGATAGGACAGA	0.333																																																	0													73	73	73					1																	89430628		2203	4297	6500	SO:0001819	synonymous_variant	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.337C>T	1.37:g.89430628G>A			B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L113	ENST00000260508.4	37	c.337	CCDS30766.1	1																																																																																			CCBL2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.333	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	HGNC	protein_coding	OTTHUMT00000029300.3	G	NM_001008661		89430628	-1	no_errors	ENST00000260508	ensembl	human	known	70_37	silent	SNP	0.980	A	A	89430628	G	A	89430628	2	1	67	1	0	0	0	0	0	0	0	1	2738	933	33	1		1	CCBL2	1	89430628	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	49123126	89430628	159819993	10	10133										
NBAS	51594	genome.wustl.edu	37	chr2	15614432	15614432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ccaaacgagatcgtttggggGcaagtttaatctcacactaa	9	9	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:15614432G>A	ENST00000281513.5	-	15	1383	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	NBAS_ENST00000441750.1_Missense_Mutation_p.A453V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	453					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCGTTTGGGGGCAAGTTTAAT	0.328																																																	0													31	31	31					2																	15614432		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1358C>T	2.37:g.15614432G>A	ENSP00000281513:p.Ala453Val		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.A453V	ENST00000281513.5	37	c.1358	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108875	0.20714	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09817	2.94;3.08	5.76	4.85	0.62838	.	0.052446	0.85682	D	0.000000	T	0.07234	0.0183	N	0.20685	0.6	0.29714	N	0.839188	B	0.32829	0.386	B	0.28553	0.091	T	0.08269	-1.0730	10	0.87932	D	0	.	10.7047	0.45948	0.0766:0.1338:0.7896:0.0	.	453	A2RRP1	NBAS_HUMAN	V	453	ENSP00000413201:A453V;ENSP00000281513:A453V	ENSP00000281513:A453V	A	-	2	0	NBAS	15531883	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.272000	0.58908	2.721000	0.93114	0.563000	0.77884	GCC	NBAS	-	NULL		0.328	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	G	NM_015909		15614432	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15614432	G	A	15614432	3	1	67	1	0	0	0	0	1	0	0	0	10209	1203	42	4	5909	4	NBAS	2	15614432	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		15614432	227584941	11	10134										
KHK	3795	genome.wustl.edu	37	chr2	27317370	27317370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tcctggatgacctccgccgcTattctgtggacctacgctac	9	15	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:27317370T>C	ENST00000260599.6	+	3	748	c.235T>C	c.(235-237)Tat>Cat	p.Y79H	KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	79					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGCCGCTATTCTGTGGA	0.592																																																	0													95	93	93					2																	27317370		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.235T>C	2.37:g.27317370T>C	ENSP00000260599:p.Tyr79His		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	pfam_PfkB	p.Y79H	ENST00000260599.6	37	c.235	CCDS1734.1	2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055290	0.36277	.	.	ENSG00000138030	ENST00000260599;ENST00000429697	T;T	0.76186	-1.0;-1.0	5.63	4.48	0.54585	Carbohydrate/purine kinase (1);	0.886321	0.10215	N	0.701674	T	0.58977	0.2160	N	0.16478	0.41	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.23419	0.046;0.046	T	0.41875	-0.9484	10	0.16896	T	0.51	-2.291	9.0377	0.36298	0.0:0.0891:0.0:0.9109	.	79;79	Q6IBK2;P50053	.;KHK_HUMAN	H	79	ENSP00000260599:Y79H;ENSP00000404741:Y79H	ENSP00000260599:Y79H	Y	+	1	0	KHK	27170874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.664000	0.54525	0.977000	0.38444	0.459000	0.35465	TAT	KHK	-	pfam_PfkB		0.592	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	T			27317370	1	no_errors	ENST00000260599	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27317370	T	C	27317370	3	2	67	1	0	0	0	0	1	0	0	0	8169	1522	53	5	245	5	KHK	2	27317370	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	11702938	27317370	215882003	12	10135										
SLC30A6	55676	genome.wustl.edu	37	chr2	32445705	32445705	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ttccaggaattggagcaactCaaggattgaggactggtttt	12	6	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:32445705C>G	ENST00000282587.5	+	14	1346	c.1309C>G	c.(1309-1311)Caa>Gaa	p.Q437E	SLC30A6_ENST00000379343.2_Missense_Mutation_p.Q477E|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Q240E|SLC30A6_ENST00000538303.1_Missense_Mutation_p.Q408E|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Q414E|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Q363E	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	437					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGAGCAACTCAAGGATTGAG	0.378																																																	0													82	80	81					2																	32445705		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1309C>G	2.37:g.32445705C>G	ENSP00000282587:p.Gln437Glu		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.Q437E	ENST00000282587.5	37	c.1309	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293487	0.40594	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	.	0.130610	0.50627	D	0.000102	T	0.75932	0.3917	L	0.32530	0.975	0.48511	D	0.999667	B;B;P;B	0.44044	0.255;0.187;0.825;0.118	B;B;P;B	0.46026	0.057;0.058;0.501;0.039	T	0.77819	-0.2446	10	0.56958	D	0.05	-19.6262	19.217	0.93782	0.0:1.0:0.0:0.0	.	408;414;477;437	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	E	477;437;414;408;240;363	ENSP00000282587:Q437E;ENSP00000440678:Q408E	ENSP00000282587:Q437E	Q	+	1	0	SLC30A6	32299209	1.000000	0.71417	0.718000	0.30602	0.409000	0.31022	6.119000	0.71590	2.702000	0.92279	0.591000	0.81541	CAA	SLC30A6	-	NULL		0.378	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	HGNC	protein_coding	OTTHUMT00000250254.2	C			32445705	1	no_errors	ENST00000282587	ensembl	human	known	70_37	missense	SNP	0.997	G	G	32445705	C	G	32445705	3	3	67	1	0	0	0	0	1	0	0	0	14589	827	29	1	1363	1	SLC30A6	2	32445705	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	5128335	32445705	210753668	13	10136										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452542	43452542	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gctgctgctgcaggtgcaggAggtgctggctgcgatcgccg	18	11	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:43452542A>T	ENST00000282388.3	-	2	694	c.401T>A	c.(400-402)cTc>cAc	p.L134H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	134					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CAGGTGCAGGAGGTGCTGGCT	0.662																																																	0													24	28	27					2																	43452542		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.401T>A	2.37:g.43452542A>T	ENSP00000282388:p.Leu134His		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.L134H	ENST00000282388.3	37	c.401	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249952	0.39797	.	.	ENSG00000152518	ENST00000282388	T	0.48201	0.82	4.7	4.7	0.59300	Tis11B-like protein, N-terminal (1);	0.000000	0.64402	D	0.000014	T	0.60983	0.2311	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.62863	-0.6764	10	0.52906	T	0.07	-20.2061	13.1679	0.59581	1.0:0.0:0.0:0.0	.	134	P47974	TISD_HUMAN	H	134	ENSP00000282388:L134H	ENSP00000282388:L134H	L	-	2	0	ZFP36L2	43306046	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	4.245000	0.58734	1.754000	0.51921	0.459000	0.35465	CTC	ZFP36L2	-	pfam_Tis11B_N		0.662	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	A	NM_006887		43452542	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43452542	A	T	43452542	3	4	67	1	0	0	0	0	1	0	0	0	17677	304	11	5	1087	5	ZFP36L2	2	43452542	Missense_Mutation	SNP	A	TCGA-DS-A7WH-01A-22D-A351-09	11006837	43452542	199746831	14	10137										
USP34	9736	genome.wustl.edu	37	chr2	61510366	61510366	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tttcactaaagaacagcaatGagcccaactcaccaagagcc	6	13	2	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:61510366G>T	ENST00000398571.2	-	37	4988	c.4912C>A	c.(4912-4914)Cat>Aat	p.H1638N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1638					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAACAGCAATGAGCCCAACTC	0.338																																																	0													81	75	77					2																	61510366		1851	4101	5952	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4912C>A	2.37:g.61510366G>T	ENSP00000381577:p.His1638Asn		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.H1638N	ENST00000398571.2	37	c.4912	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735809	0.69189	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04083	3.71	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.54323	1.7	0.51482	D	0.999928	D	0.54601	0.967	P	0.58210	0.835	T	0.00159	-1.1974	10	0.39692	T	0.17	.	19.9059	0.97007	0.0:0.0:1.0:0.0	.	1638	Q70CQ2	UBP34_HUMAN	N	1486;1486;1638	ENSP00000381577:H1638N	ENSP00000263989:H1486N	H	-	1	0	USP34	61363870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.693000	0.91896	0.655000	0.94253	CAT	USP34	-	NULL		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	G			61510366	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61510366	G	T	61510366	3	4	67	1	0	0	0	0	1	0	0	0	17096	1290	45	3	5904	3	USP34	2	61510366	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	18057824	61510366	181689007	15	10138										
XPO1	7514	genome.wustl.edu	37	chr2	61726050	61726051	+	Splice_Site	INS	-	-	A													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gagaattcattgcacatgctINSaaaaaaaaaaacacacaaaa					rs372688892		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:61726050_61726051insA	ENST00000401558.2	-	8	1318		c.e8-2		XPO1_ENST00000404992.2_Splice_Site|XPO1_ENST00000406957.1_Splice_Site	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1						gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGCACATGCTAAAAAAAAAAA	0.262			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0																																										SO:0001630	splice_region_variant	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.591-2->T	2.37:g.61726061_61726061dupA			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Splice_Site	INS	-	e7-2	ENST00000401558.2	37	c.591-3_591-2	CCDS33205.1	2																																																																																			XPO1	-	-		0.262	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	-	NM_003400	Intron	61726051	-1	no_errors	ENST00000401558	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.996	A	A	61726051	-	A	61726050	8	5	67	1	0	1	1	0	0	0	1	0	17476	1536	53	0	2698	0	XPO1	2	61726050	Splice_Site	INS	-	TCGA-DS-A7WH-01A-22D-A351-09	215684	61726050	181473323	16	10139										
UNC50	25972	genome.wustl.edu	37	chr2	99226302	99226302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggatgcggcaagacacacagCcggagcgaaacgctacaaat	12	11	0	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:99226302C>T	ENST00000357765.2	+	2	232	c.80C>T	c.(79-81)gCc>gTc	p.A27V	COA5_ENST00000328709.3_5'Flank|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.A44V|UNC50_ENST00000409975.1_Missense_Mutation_p.A44V|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	27					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACACACAGCCGGAGCGAAA	0.483																																																	0													172	172	172					2																	99226302		2203	4300	6503	SO:0001583	missense	25972				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.80C>T	2.37:g.99226302C>T	ENSP00000350409:p.Ala27Val		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	pfam_UNC-50	p.A44V	ENST00000357765.2	37	c.131	CCDS2035.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.631092	0.96682	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79147	-0.1923	9	0.39692	T	0.17	-15.1323	18.0646	0.89387	0.0:1.0:0.0:0.0	.	27	Q53HI1	UNC50_HUMAN	V	27;44;44	.	ENSP00000350409:A27V	A	+	2	0	UNC50	98592734	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.344000	0.79328	2.505000	0.84491	0.591000	0.81541	GCC	UNC50	-	NULL		0.483	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	C	NM_014044		99226302	1	no_errors	ENST00000409347	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99226302	C	T	99226302	3	4	67	1	0	0	0	0	1	0	0	0	17021	739	26	4	82	4	UNC50	2	99226302	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	37500252	99226302	143973071	17	10140										
TMEM182	130827	genome.wustl.edu	37	chr2	103380846	103380846	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctgtctccgtaccccttcatGagaggcgagcacaactcgac	9	15	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:103380846G>A	ENST00000412401.2	+	3	496	c.291G>A	c.(289-291)atG>atA	p.M97I	TMEM182_ENST00000409528.1_Start_Codon_SNP_p.M1I|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.M54I	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	97						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACCCCTTCATGAGAGGCGAGC	0.483																																																	0													166	133	145					2																	103380846		2203	4300	6503	SO:0001583	missense	130827			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.291G>A	2.37:g.103380846G>A	ENSP00000394178:p.Met97Ile		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.M97I	ENST00000412401.2	37	c.291	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184667	0.38609	.	.	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T;T	0.40756	1.02;1.06;1.02;1.02	5.83	4.95	0.65309	.	0.577329	0.21556	N	0.072649	T	0.14056	0.0340	N	0.02011	-0.69	0.25130	N	0.990576	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16897	-1.0387	10	0.15499	T	0.54	-7.7002	3.2941	0.06960	0.1505:0.1464:0.5686:0.1344	.	97;54	Q6ZP80;B8ZZ71	TM182_HUMAN;.	I	54;1;54;97	ENSP00000392106:M54I;ENSP00000387258:M1I;ENSP00000387184:M54I;ENSP00000394178:M97I	ENSP00000387184:M54I	M	+	3	0	TMEM182	102747278	0.938000	0.31826	1.000000	0.80357	0.982000	0.71751	0.786000	0.26844	1.459000	0.47892	0.655000	0.94253	ATG	TMEM182	-	NULL		0.483	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	G	NM_144632		103380846	1	no_errors	ENST00000412401	ensembl	human	known	70_37	missense	SNP	0.793	A	A	103380846	G	A	103380846	3	1	67	1	0	0	0	0	1	0	0	0	16131	1290	45	1	301	1	TMEM182	2	103380846	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	4154544	103380846	139818527	18	10141										
STAM2	10254	genome.wustl.edu	37	chr2	153004816	153004817	+	Splice_Site	INS	-	-	A													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tttaggcaatctttcgctctINSaaaaaaaaaaagagagagag							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:153004816_153004817insA	ENST00000263904.4	-	3	475		c.e3-2		STAM2_ENST00000465460.1_Splice_Site	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTTTCGCTCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	10254			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.126-2->T	2.37:g.153004827_153004827dupA			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Splice_Site	INS	-	e3-2	ENST00000263904.4	37	c.126-3_126-2	CCDS2196.1	2																																																																																			STAM2	-	-		0.297	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	-	NM_005843	Intron	153004817	-1	no_errors	ENST00000263904	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.002	A	A	153004817	-	A	153004816	8	5	67	1	0	1	1	0	0	0	1	0	15279	1536	53	0	1501	0	STAM2	2	153004816	Splice_Site	INS	-	TCGA-DS-A7WH-01A-22D-A351-09	49623970	153004816	90194557	19	10142										
DYNC1I2	1781	genome.wustl.edu	37	chr2	172604356	172604356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgcagaaattaatgcaaaccGagctgatgcagaggaggaag	13	6	0	3	rs201120526		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:172604356G>A	ENST00000397119.3	+	18	2041	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DYNC1I2_ENST00000534253.2_Missense_Mutation_p.R625Q|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.R599Q|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.R619Q|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.R619Q|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.R625Q|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.R624Q|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.R617Q|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.R599Q|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.R598Q|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.R617Q	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	625					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AATGCAAACCGAGCTGATGCA	0.443																																																	0													58	54	55					2																	172604356		1873	4103	5976	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1874G>A	2.37:g.172604356G>A	ENSP00000380308:p.Arg625Gln		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R625Q	ENST00000397119.3	37	c.1874	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970313	0.53614	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.75367	-0.77;-0.93;-0.77;-0.7;-0.55;-0.55;-0.77;-0.77;-0.7;-0.56;-0.55	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	N	0.05124	-0.11	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.994;0.997;0.997;0.998	P;P;D;D;D	0.66847	0.885;0.885;0.947;0.947;0.945	T	0.70659	-0.4811	10	0.16896	T	0.51	-8.2044	19.9478	0.97189	0.0:0.0:1.0:0.0	.	348;617;598;599;625	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	Q	599;625;619;625;617;598;599;619;625;624;617	ENSP00000339430:R599Q;ENSP00000433791:R625Q;ENSP00000263811:R619Q;ENSP00000380308:R625Q;ENSP00000386522:R617Q;ENSP00000423339:R598Q;ENSP00000386397:R599Q;ENSP00000386591:R619Q;ENSP00000386415:R625Q;ENSP00000386886:R624Q;ENSP00000350692:R617Q	ENSP00000263811:R619Q	R	+	2	0	DYNC1I2	172312602	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.504000	0.97986	2.712000	0.92718	0.591000	0.81541	CGA	DYNC1I2	-	NULL		0.443	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	G	NM_001378		172604356	1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	A	A	172604356	G	A	172604356	3	1	67	1	0	0	0	0	1	0	0	0	4853	1058	37	1	1940	1	DYNC1I2	2	172604356	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	19599540	172604356	70595017	20	10143										
TTN	7273	genome.wustl.edu	37	chr2	179498554	179498554	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ttacatttacctaagaccttCagctgtgctgtggagctcag	9	10	2	1	rs368155350		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr2:179498554C>T	ENST00000591111.1	-	181	37973	c.37749G>A	c.(37747-37749)ctG>ctA	p.L12583L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.L11656L|TTN_ENST00000460472.2_Silent_p.L5159L|TTN_ENST00000589042.1_Silent_p.L14224L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.L5351L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Silent_p.L5284L|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12583	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAAGACCTTCAGCTGTGCTG	0.388																																																	0													183	175	178					2																	179498554		1876	4099	5975	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37749G>A	2.37:g.179498554C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L11656	ENST00000591111.1	37	c.34968		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179498554	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.029	T	T	179498554	C	T	179498554	2	4	67	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179498554	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	6894198	179498554	63700819	21	10144										
ZNF621	285268	genome.wustl.edu	37	chr3	40570895	40570895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgcgcagagggccctgtacgGggaggtgatgctggagaatt	18	7	0	3	rs374160688		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr3:40570895G>A	ENST00000339296.5	+	3	562	c.110G>A	c.(109-111)gGg>gAg	p.G37E	ZNF621_ENST00000431278.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G37E|ZNF621_ENST00000310898.1_Missense_Mutation_p.G37E|ZNF621_ENST00000490457.1_3'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GCCCTGTACGGGGAGGTGATG	0.522																																																	0								G	GLU/GLY,GLU/GLY	0,4406		0,0,2203	174	169	171		110,110	0.7	1	3		171	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF621	NM_198484.3,NM_001098414.1	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	37/440,37/440	40570895	1,13005	2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.110G>A	3.37:g.40570895G>A	ENSP00000340841:p.Gly37Glu		Q14DC7|Q8TE91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G37E	ENST00000339296.5	37	c.110	CCDS2693.1	3	.	.	.	.	.	.	.	.	.	.	g	11.57	1.679207	0.29783	0.0	1.16E-4	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.01613	4.73;4.73;4.73;4.73	3.48	0.722	0.18225	Krueppel-associated box (4);	0.997432	0.08112	N	0.996098	T	0.01489	0.0048	N	0.12182	0.205	0.21386	N	0.999704	B	0.16396	0.017	B	0.22880	0.042	T	0.48736	-0.9009	10	0.72032	D	0.01	.	6.9237	0.24403	0.3303:0.0:0.6697:0.0	.	37	Q6ZSS3	ZN621_HUMAN	E	37	ENSP00000386051:G37E;ENSP00000312144:G37E;ENSP00000340841:G37E;ENSP00000408779:G37E	ENSP00000312144:G37E	G	+	2	0	ZNF621	40545899	0.995000	0.38212	0.956000	0.39512	0.756000	0.42949	0.846000	0.27682	0.144000	0.18951	-0.251000	0.11542	GGG	ZNF621	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF621	HGNC	protein_coding	OTTHUMT00000254178.2	G	NM_198484		40570895	1	no_errors	ENST00000339296	ensembl	human	known	70_37	missense	SNP	0.979	A	A	40570895	G	A	40570895	3	1	67	1	0	0	0	0	1	0	0	0	18075	1232	43	4	116	4	ZNF621	3	40570895	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		40570895	157451535	22	10145										
COL6A6	131873	genome.wustl.edu	37	chr3	130279232	130279232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atgttgctaattttgttcctCgtgataatttgttcccatat	6	7	0	1	rs370873490		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr3:130279232C>T	ENST00000358511.6	+	1	55	c.24C>T	c.(22-24)ctC>ctT	p.L8L	COL6A6_ENST00000453409.2_Silent_p.L8L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	8					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTTGTTCCTCGTGATAATTT	0.289																																																	0								C		0,3610		0,0,1805	133	120	124		24	1.1	0	3		124	1,8129		0,1,4064	no	coding-synonymous	COL6A6	NM_001102608.1		0,1,5869	TT,TC,CC		0.0123,0.0,0.0085		8/2264	130279232	1,11739	1805	4065	5870	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.24C>T	3.37:g.130279232C>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L8	ENST00000358511.6	37	c.24	CCDS46911.1	3																																																																																			COL6A6	-	NULL		0.289	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	C	NM_001102608		130279232	1	no_errors	ENST00000358511	ensembl	human	known	70_37	silent	SNP	0.088	T	T	130279232	C	T	130279232	2	4	67	1	0	0	0	0	0	0	0	1	3708	871	31	1		1	COL6A6	3	130279232	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	89708337	130279232	67743198	23	10146										
TRIM42	287015	genome.wustl.edu	37	chr3	140401595	140401595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctgcccgagaactacctgcaCgggcgtctcaccaagcgcta	10	16	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr3:140401595C>T	ENST00000286349.3	+	2	824	c.633C>T	c.(631-633)caC>caT	p.H211H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	211						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H211H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACTACCTGCACGGGCGTCTCA	0.612																																																	1	Substitution - coding silent(1)	prostate(1)											75	74	74					3																	140401595		2203	4300	6503	SO:0001819	synonymous_variant	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.633C>T	3.37:g.140401595C>T			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.H211	ENST00000286349.3	37	c.633	CCDS3113.1	3																																																																																			TRIM42	-	NULL		0.612	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	C	NM_152616		140401595	1	no_errors	ENST00000286349	ensembl	human	known	70_37	silent	SNP	0.812	T	T	140401595	C	T	140401595	2	4	67	1	0	0	0	0	0	0	0	1	16548	535	19	2		2	TRIM42	3	140401595	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	10122363	140401595	57620835	24	10147										
TBC1D14	57533	genome.wustl.edu	37	chr4	7026927	7026927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgcccgaggacctgcccgccGaggagctgtttgcctccatc	12	16	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:7026927G>A	ENST00000409757.4	+	13	2078	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	TBC1D14_ENST00000446947.2_Missense_Mutation_p.E299K|TBC1D14_ENST00000451522.2_Missense_Mutation_p.E372K|TBC1D14_ENST00000448507.1_Missense_Mutation_p.E652K|TBC1D14_ENST00000410031.1_Missense_Mutation_p.E424K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	652					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGCCCGCCGAGGAGCTGTT	0.602																																																	0													88	76	80					4																	7026927		2203	4300	6503	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1954G>A	4.37:g.7026927G>A	ENSP00000386921:p.Glu652Lys		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E652K	ENST00000409757.4	37	c.1954	CCDS3394.2	4	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378203	0.61735	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.15	5.15	0.70609	Rab-GAP/TBC domain (1);	0.281705	0.38005	N	0.001855	T	0.28267	0.0698	M	0.65498	2.005	0.58432	D	0.999999	P;P;P	0.42973	0.796;0.487;0.47	B;B;B	0.34242	0.147;0.178;0.07	T	0.17440	-1.0369	10	0.48119	T	0.1	-9.1509	17.6366	0.88124	0.0:0.0:1.0:0.0	.	299;372;652	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	K	652;652;424;372;299	ENSP00000404041:E652K;ENSP00000386921:E652K;ENSP00000386343:E424K;ENSP00000388886:E372K;ENSP00000405875:E299K	ENSP00000386921:E652K	E	+	1	0	TBC1D14	7077828	1.000000	0.71417	0.039000	0.18376	0.772000	0.43724	5.121000	0.64691	2.409000	0.81822	0.561000	0.74099	GAG	TBC1D14	-	superfamily_Rab-GTPase-TBC_dom		0.602	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	G	NM_020773		7026927	1	no_errors	ENST00000409757	ensembl	human	known	70_37	missense	SNP	0.986	A	A	7026927	G	A	7026927	3	1	67	1	0	0	0	0	1	0	0	0	15633	1059	37	1	2007	1	TBC1D14	4	7026927	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		7026927	184127349	25	10148										
SRP72	6731	genome.wustl.edu	37	chr4	57355616	57355616	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gatagtgccattgaggtcttCacacaagctatccagtggta	10	9	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:57355616C>T	ENST00000342756.5	+	13	2008	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	SRP72_ENST00000510663.1_Silent_p.F368F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	429					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTGAGGTCTTCACACAAGCTA	0.353																																																	0													125	113	117					4																	57355616		2203	4300	6503	SO:0001819	synonymous_variant	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1287C>T	4.37:g.57355616C>T			G5E9Z8|Q7Z3C0	Silent	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F429	ENST00000342756.5	37	c.1287	CCDS3506.1	4																																																																																			SRP72	-	smart_TPR_repeat		0.353	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	C			57355616	1	no_errors	ENST00000342756	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57355616	C	T	57355616	2	4	67	1	0	0	0	0	0	0	0	1	15187	825	29	1		1	SRP72	4	57355616	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	50328689	57355616	133798660	26	10149										
PLA2G12A	81579	genome.wustl.edu	37	chr4	110650839	110650839	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	caggtacgtgtctatcttatGaacgccgttccggatggtct	11	10	3	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:110650839G>A	ENST00000243501.5	-	1	394	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.H43Y	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	43					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		TCTATCTTATGAACGCCGTTC	0.632																																																	0													59	48	52					4																	110650839		2203	4299	6502	SO:0001583	missense	81579				CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"phospholipase A2, group XII"	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.127C>T	4.37:g.110650839G>A	ENSP00000243501:p.His43Tyr		Q9BZ89	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.H43Y	ENST00000243501.5	37	c.127	CCDS3686.1	4	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821500	0.90873	.	.	ENSG00000123739	ENST00000243501;ENST00000502283	.	.	.	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.80692	-0.1269	9	0.66056	D	0.02	-22.4239	16.3027	0.82831	0.0:0.0:1.0:0.0	.	43;43	Q542Y6;Q9BZM1	.;PG12A_HUMAN	Y	43	.	ENSP00000243501:H43Y	H	-	1	0	PLA2G12A	110870288	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	8.427000	0.90275	2.119000	0.64992	0.313000	0.20887	CAT	PLA2G12A	-	pfam_PLipase_A2_secretory_G12		0.632	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLA2G12A	HGNC	protein_coding	OTTHUMT00000254868.3	G			110650839	-1	no_errors	ENST00000243501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110650839	G	A	110650839	3	1	67	1	0	0	0	0	1	0	0	0	12014	1290	45	1	458	1	PLA2G12A	4	110650839	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	53295223	110650839	80503437	27	10150										
NAA15	80155	genome.wustl.edu	37	chr4	140291474	140291474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gcagaaaaagaaaagcagcaGagaaatcagaaaaagaagaa	10	4	1	6			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:140291474G>T	ENST00000296543.5	+	15	2186	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NAA15_ENST00000398947.1_Missense_Mutation_p.Q621H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	621	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						aaaagcagcagagaaatcaga	0.363																																																	0													70	68	69					4																	140291474		1841	4087	5928	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1863G>T	4.37:g.140291474G>T	ENSP00000296543:p.Gln621His		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q621H	ENST00000296543.5	37	c.1863	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663936	0.67700	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.44482	0.92;0.92	5.92	4.12	0.48240	.	0.322238	0.30723	N	0.009001	T	0.47432	0.1445	L	0.38175	1.15	0.80722	D	1	P	0.51791	0.948	P	0.57776	0.827	T	0.37686	-0.9695	10	0.49607	T	0.09	-1.5886	11.1294	0.48339	0.1605:0.0:0.8395:0.0	.	621	Q9BXJ9	NAA15_HUMAN	H	621;495;621	ENSP00000296543:Q621H;ENSP00000381920:Q621H	ENSP00000296543:Q621H	Q	+	3	2	NAA15	140510924	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.725000	0.25970	0.738000	0.32606	0.650000	0.86243	CAG	NAA15	-	pirsf_NatA_aux_su		0.363	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140291474	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140291474	G	T	140291474	3	4	67	1	0	0	0	0	1	0	0	0	10141	933	33	3	1921	3	NAA15	4	140291474	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	29640635	140291474	50862802	28	10151										
FHDC1	85462	genome.wustl.edu	37	chr4	153896449	153896449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tctctcgccattggctctggGaattaaggagcatgagctgg	13	9	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:153896449G>A	ENST00000511601.1	+	12	2194	c.2006G>A	c.(2005-2007)gGa>gAa	p.G669E	FHDC1_ENST00000260008.3_Missense_Mutation_p.G669E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	669								p.G669K(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TTGGCTCTGGGAATTAAGGAG	0.617																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											36	38	37					4																	153896449		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2006G>A	4.37:g.153896449G>A	ENSP00000427567:p.Gly669Glu			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.G669E	ENST00000511601.1	37	c.2006	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	9.835	1.189414	0.21954	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.30714	1.52;1.52	5.29	4.44	0.53790	.	0.671525	0.14905	N	0.291569	T	0.20210	0.0486	L	0.41824	1.3	0.22489	N	0.999052	P	0.39480	0.675	B	0.31442	0.13	T	0.08973	-1.0696	10	0.30078	T	0.28	.	8.2534	0.31739	0.088:0.295:0.617:0.0	.	669	Q9C0D6	FHDC1_HUMAN	E	669	ENSP00000427567:G669E;ENSP00000260008:G669E	ENSP00000260008:G669E	G	+	2	0	FHDC1	154115899	0.995000	0.38212	0.920000	0.36463	0.665000	0.39181	2.431000	0.44775	2.622000	0.88805	0.563000	0.77884	GGA	FHDC1	-	NULL		0.617	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	G	NM_033393		153896449	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.407	A	A	153896449	G	A	153896449	3	1	67	1	0	0	0	0	1	0	0	0	5894	1174	41	1	2048	1	FHDC1	4	153896449	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	13604975	153896449	37257827	29	10152			1	44		2	2	15	G		5.472007e-05
FHDC1	85462	genome.wustl.edu	37	chr4	153896463	153896463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctctgggaattaaggagcatGagctggtgacagggctggcc	16	8	1	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:153896463G>A	ENST00000511601.1	+	12	2208	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E674K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	674									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TAAGGAGCATGAGCTGGTGAC	0.607																																																	0													38	41	40					4																	153896463		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2020G>A	4.37:g.153896463G>A	ENSP00000427567:p.Glu674Lys			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.E674K	ENST00000511601.1	37	c.2020	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470028	0.63625	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.35236	1.32;1.32	5.29	5.29	0.74685	.	0.617484	0.16289	N	0.220980	T	0.38692	0.1050	L	0.55990	1.75	0.58432	D	0.999997	P	0.48503	0.911	B	0.39840	0.311	T	0.39702	-0.9601	10	0.49607	T	0.09	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	674	Q9C0D6	FHDC1_HUMAN	K	674	ENSP00000427567:E674K;ENSP00000260008:E674K	ENSP00000260008:E674K	E	+	1	0	FHDC1	154115913	1.000000	0.71417	0.946000	0.38457	0.852000	0.48524	3.493000	0.53266	2.622000	0.88805	0.563000	0.77884	GAG	FHDC1	-	NULL		0.607	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	G	NM_033393		153896463	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.998	A	A	153896463	G	A	153896463	3	1	67	1	0	0	0	0	1	0	0	0	5894	1291	45	1	2062	1	FHDC1	4	153896463	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	14	153896463	37257813	30	10153			1	44		2	2	15	G		5.472007e-05
DDX60L	91351	genome.wustl.edu	37	chr4	169362599	169362599	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgacacaacattccacaggtCttcataatccctcctaatgg	5	13	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr4:169362599C>A	ENST00000511577.1	-	10	1430	c.1183G>T	c.(1183-1185)Gac>Tac	p.D395Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.D395Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.D395Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	395							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTCCACAGGTCTTCATAATCC	0.348																																																	0													114	108	110					4																	169362599		1818	4081	5899	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1183G>T	4.37:g.169362599C>A	ENSP00000422423:p.Asp395Tyr		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D395Y	ENST00000511577.1	37	c.1183		4	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.518917	0.00967	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.17691	2.26;2.26;2.26;2.94	3.1	-0.0454	0.13851	.	1.885830	0.03999	U	0.296178	T	0.07098	0.0180	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27502	-1.0072	10	0.02654	T	1	.	4.6174	0.12433	0.1445:0.4557:0.3998:0.0	.	395;395;395	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	Y	395;395;395;123	ENSP00000260184:D395Y;ENSP00000422423:D395Y;ENSP00000422202:D395Y;ENSP00000421026:D123Y	ENSP00000260184:D395Y	D	-	1	0	DDX60L	169599174	0.955000	0.32602	0.210000	0.23637	0.406000	0.30931	-0.111000	0.10807	0.395000	0.25257	-0.689000	0.03729	GAC	DDX60L	-	NULL		0.348	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	C	NM_001012967		169362599	-1	no_errors	ENST00000260184	ensembl	human	known	70_37	missense	SNP	0.374	A	A	169362599	C	A	169362599	3	1	67	1	0	0	0	0	1	0	0	0	4384	913	32	3	4053	3	DDX60L	4	169362599	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	15466136	169362599	21791677	31	10154										
MAP1B	4131	genome.wustl.edu	37	chr5	71491138	71491138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cctgaagacaagaaagaggaGaaagaaaagccaaagaaaga	11	5	0	8			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:71491138G>A	ENST00000296755.7	+	5	2254	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	652	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAAGAGGAGAAAGAAAAGC	0.413																																					Melanoma(17;367 822 11631 31730 47712)												0													81	85	83					5																	71491138		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1956G>A	5.37:g.71491138G>A			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.E652	ENST00000296755.7	37	c.1956	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.413	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71491138	1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	0.994	A	A	71491138	G	A	71491138	2	1	67	1	0	0	0	0	0	0	0	1	9251	933	33	1		1	MAP1B	5	71491138	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		71491138	109424122	32	10155										
WDR36	134430	genome.wustl.edu	37	chr5	110428130	110428130	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tttccttcaggaccagagctGagaggagctgggatcgcggc	15	10	1	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:110428130G>A	ENST00000513710.2	+	1	148	c.144G>A	c.(142-144)ctG>ctA	p.L48L	WDR36_ENST00000506538.2_Silent_p.L48L|WDR36_ENST00000505303.1_5'UTR|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	48					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACCAGAGCTGAGAGGAGCTG	0.622																																																	0													49	57	54					5																	110428130		2202	4300	6502	SO:0001819	synonymous_variant	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.144G>A	5.37:g.110428130G>A			A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L48	ENST00000513710.2	37	c.144	CCDS4102.1	5																																																																																			WDR36	-	NULL		0.622	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	G	NM_139281		110428130	1	no_errors	ENST00000506538	ensembl	human	known	70_37	silent	SNP	0.000	A	A	110428130	G	A	110428130	2	1	67	1	0	0	0	0	0	0	0	1	17321	1277	45	1		1	WDR36	5	110428130	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	38936992	110428130	70487130	33	10156										
ISOC1	51015	genome.wustl.edu	37	chr5	128440651	128440651	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tttttcttttttcctcagctCactaccctgggaaatcttac	4	12	4	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:128440651C>G	ENST00000173527.5	+	2	328	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	104						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TTCCTCAGCTCACTACCCTGG	0.368																																																	0													139	127	131					5																	128440651		1850	4111	5961	SO:0001819	synonymous_variant	51015			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.312C>G	5.37:g.128440651C>G			Q7Z770	Silent	SNP	pfam_Isochorismatase-like,superfamily_Isochorismatase-like	p.L104	ENST00000173527.5	37	c.312	CCDS43357.1	5																																																																																			ISOC1	-	superfamily_Isochorismatase-like		0.368	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISOC1	HGNC	protein_coding	OTTHUMT00000371826.1	C	NM_016048		128440651	1	no_errors	ENST00000173527	ensembl	human	known	70_37	silent	SNP	0.986	G	G	128440651	C	G	128440651	2	3	67	1	0	0	0	0	0	0	0	1	7882	813	29	1		1	ISOC1	5	128440651	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	18012521	128440651	52474609	34	10157										
PCDHA7	56141	genome.wustl.edu	37	chr5	140214113	140214113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gcaacttcgtgggccgcatcGcgcaggacctggggctggag	17	12	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:140214113G>A	ENST00000525929.1	+	1	145	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A49T|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCGCAGGACCT	0.602																																					NSCLC(160;258 2013 5070 22440 28951)												0													58	73	68					5																	140214113		2203	4299	6502	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.145G>A	5.37:g.140214113G>A	ENSP00000436426:p.Ala49Thr		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A49T	ENST00000525929.1	37	c.145	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524256	0.85600	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.55413	0.52;0.52	4.17	4.17	0.49024	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.72550	0.3474	M	0.86343	2.81	0.35762	D	0.820232	D;D	0.76494	0.998;0.999	P;P	0.58660	0.729;0.843	D	0.83898	0.0288	9	0.59425	D	0.04	.	16.9132	0.86145	0.0:0.0:1.0:0.0	.	49;49	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	49	ENSP00000436426:A49T;ENSP00000367365:A49T	ENSP00000367365:A49T	A	+	1	0	PCDHA7	140194297	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.471000	0.66762	2.028000	0.59812	0.449000	0.29647	GCG	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.602	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	G	NM_018910		140214113	1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140214113	G	A	140214113	3	1	67	1	0	0	0	0	1	0	0	0	11553	1087	38	2	147	2	PCDHA7	5	140214113	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	11773462	140214113	40701147	35	10158										
PCDHA8	56140	genome.wustl.edu	37	chr5	140221358	140221358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atccagaatgccagactctcGgtttccgctagagggcgcgt	12	12	1	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:140221358G>A	ENST00000531613.1	+	1	452	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R151Q|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	151					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACTCTCGGTTTCCGCTA	0.483																																																	0													82	89	87					5																	140221358		2203	4300	6503	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.452G>A	5.37:g.140221358G>A	ENSP00000434655:p.Arg151Gln		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R151Q	ENST00000531613.1	37	c.452	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901422	0.92035	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.52526	0.66;0.66	3.72	3.72	0.42706	Cadherin (2);Cadherin-like (1);	2.567710	0.02688	U	0.110285	T	0.65811	0.2727	M	0.78801	2.425	0.23376	N	0.997807	P;B	0.34522	0.455;0.4	B;B	0.43867	0.434;0.143	T	0.61342	-0.7082	10	0.72032	D	0.01	.	15.9239	0.79597	0.0:0.0:1.0:0.0	.	151;151	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	Q	151	ENSP00000434655:R151Q;ENSP00000367363:R151Q	ENSP00000367363:R151Q	R	+	2	0	PCDHA8	140201542	0.012000	0.17670	0.502000	0.27614	0.893000	0.52053	1.737000	0.38197	1.794000	0.52575	0.552000	0.68991	CGG	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like		0.483	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	G	NM_018911		140221358	1	no_errors	ENST00000531613	ensembl	human	known	70_37	missense	SNP	0.932	A	A	140221358	G	A	140221358	3	1	67	1	0	0	0	0	1	0	0	0	11554	1116	39	2	454	2	PCDHA8	5	140221358	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	7245	140221358	40693902	36	10159										
PCDHGC5	56097	genome.wustl.edu	37	chr5	140870650	140870650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cactgttgccacagtccacaGccccaggactgttcctcgtg	9	16	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:140870650G>T	ENST00000252087.1	+	1	1843	c.1843G>T	c.(1843-1845)Gcc>Tcc	p.A615S	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTCCACAGCCCCAGGACT	0.607																																																	0													75	69	71					5																	140870650		2203	4300	6503	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1843G>T	5.37:g.140870650G>T	ENSP00000252087:p.Ala615Ser		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A615S	ENST00000252087.1	37	c.1843	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475407	0.26511	.	.	ENSG00000240764	ENST00000252087	T	0.20200	2.09	5.45	3.52	0.40303	Cadherin (4);Cadherin-like (1);	0.227351	0.31301	N	0.007898	T	0.11793	0.0287	N	0.11255	0.115	0.30715	N	0.748898	B;B	0.21821	0.061;0.024	B;B	0.15052	0.012;0.009	T	0.07790	-1.0754	10	0.59425	D	0.04	.	12.2094	0.54371	0.1618:0.0:0.8382:0.0	.	615;615	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	S	615	ENSP00000252087:A615S	ENSP00000252087:A615S	A	+	1	0	PCDHGC5	140850834	0.997000	0.39634	1.000000	0.80357	0.953000	0.61014	3.381000	0.52455	1.526000	0.49068	0.655000	0.94253	GCC	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	G	NM_018929		140870650	1	no_errors	ENST00000252087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140870650	G	T	140870650	3	4	67	1	0	0	0	0	1	0	0	0	11595	971	34	4	1845	4	PCDHGC5	5	140870650	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	649292	140870650	40044610	37	10160										
NR3C1	2908	genome.wustl.edu	37	chr5	142658932	142658932	+	3'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gattgttgggatgaaaatcaGattaatgtgtgagatgtgct	13	2	1	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:142658932G>A	ENST00000343796.2	-	0	5849				NR3C1_ENST00000415690.2_Silent_p.I742I|NR3C1_ENST00000394464.2_3'UTR	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)						adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ATGAAAATCAGATTAATGTGT	0.333																																																	0													165	149	154					5																	142658932		1844	4083	5927	SO:0001624	3_prime_UTR_variant	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.*2522C>T	5.37:g.142658932G>A			A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	pfam_Glcrtcd_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.I742	ENST00000343796.2	37	c.2226	CCDS4278.1	5																																																																																			NR3C1	-	NULL		0.333	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142658932	-1	no_errors	ENST00000415690	ensembl	human	known	70_37	silent	SNP	0.007	A	A	142658932	G	A	142658932	1	1	67	0	1	0	0	0	0	0	0	0	10654	932	33	1		1	NR3C1	5	142658932	3'UTR	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	1788282	142658932	38256328	38	10161										
PRELID2	153768	genome.wustl.edu	37	chr5	145198976	145198976	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gaatcaccagagtgcttaagGacttcaaagagagaaaacaa	9	7	2	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:145198976G>A	ENST00000334744.4	-	4	261	c.209C>T	c.(208-210)tCc>tTc	p.S70F	PRELID2_ENST00000358004.2_Intron|PRELID2_ENST00000505416.1_Intron|PRELID2_ENST00000511435.1_Intron|PRELID2_ENST00000394450.2_Intron	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	70	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCTTAAGGACTTCAAAGA	0.358																																																	0													87	85	85					5																	145198976		2202	4300	6502	SO:0001630	splice_region_variant	153768			AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.208-1C>T	5.37:g.145198976G>A			G5EA01|Q96EQ3	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	p.S70F	ENST00000334744.4	37	c.209	CCDS34262.1	5	.	.	.	.	.	.	.	.	.	.	G	3.259	-0.151643	0.06585	.	.	ENSG00000186314	ENST00000334744	T	0.16196	2.36	5.25	2.51	0.30379	PRELI/MSF1 (2);	0.516994	0.17193	N	0.183416	T	0.09247	0.0228	N	0.14661	0.345	0.18873	N	0.999982	B	0.02656	0.0	B	0.06405	0.002	T	0.30707	-0.9969	10	0.33141	T	0.24	-10.5397	7.8204	0.29284	0.2639:0.0:0.7361:0.0	.	70	Q8N945	PRLD2_HUMAN	F	70	ENSP00000335675:S70F	ENSP00000335675:S70F	S	-	2	0	PRELID2	145179169	0.997000	0.39634	0.020000	0.16555	0.006000	0.05464	1.327000	0.33746	0.338000	0.23692	-0.272000	0.10252	TCC	PRELID2	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.358	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRELID2	HGNC	protein_coding	OTTHUMT00000372970.1	G	NM_182960	Missense_Mutation	145198976	-1	no_errors	ENST00000334744	ensembl	human	known	70_37	missense	SNP	0.187	A	A	145198976	G	A	145198976	5	1	67	1	0	0	0	0	0	0	1	0	12499	1188	41	1	376	1	PRELID2	5	145198976	Splice_Site	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	2540044	145198976	35716284	39	10162										
DOK3	79930	genome.wustl.edu	37	chr5	176931139	176931139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctgggcctccagggtactgtCgttggccgggccgggccagc	17	14	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr5:176931139C>T	ENST00000357198.4	-	6	1340	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000501403.2_Missense_Mutation_p.D390N|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	446	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGGGTACTGTCGTTGGCCGGG	0.687																																																	0													22	26	25					5																	176931139		2202	4298	6500	SO:0001583	missense	79930			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1336G>A	5.37:g.176931139C>T	ENSP00000349727:p.Asp446Asn		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.D446N	ENST00000357198.4	37	c.1336	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	c	6.270	0.418013	0.11870	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.34667	2.03;1.35	4.41	3.54	0.40534	.	3.053960	0.01242	N	0.008635	T	0.28764	0.0713	N	0.17082	0.46	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.23261	-1.0193	10	0.39692	T	0.17	-2.1204	10.0686	0.42319	0.0:0.9037:0.0:0.0963	.	446	Q7L591	DOK3_HUMAN	N	446;390	ENSP00000349727:D446N;ENSP00000421688:D390N	ENSP00000349727:D446N	D	-	1	0	DOK3	176863745	0.005000	0.15991	0.102000	0.21198	0.028000	0.11728	-0.036000	0.12185	0.855000	0.35359	0.306000	0.20318	GAC	DOK3	-	NULL		0.687	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	C	NM_024872		176931139	-1	no_errors	ENST00000357198	ensembl	human	known	70_37	missense	SNP	0.116	T	T	176931139	C	T	176931139	3	4	67	1	0	0	0	0	1	0	0	0	4708	884	31	1	510	1	DOK3	5	176931139	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	31732163	176931139	3984121	40	10163										
LYRM4	57128	genome.wustl.edu	37	chr6	5144484	5144484	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cttcctcctggcggctgtgcCttgctcagctacctgcactg	10	16	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr6:5144484C>A	ENST00000330636.4	-	3	413				LYRM4_ENST00000480566.1_Intron|LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000464010.1_Missense_Mutation_p.G74C	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4						small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				GCGGCTGTGCCTTGCTCAGCT	0.542																																					NSCLC(130;1006 2426 17608 36797)												0													48	50	49					6																	5144484		692	1591	2283	SO:0001627	intron_variant	57128			AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"LYR motif containing"	21365	protein-coding gene	gene with protein product		613311	"chromosome 6 open reading frame 149"	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.208-34759G>T	6.37:g.5144484C>A			A8K543|Q5XKP1	Missense_Mutation	SNP	pfam_Complex1_LYR	p.G74C	ENST00000330636.4	37	c.220	CCDS4493.1	6	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908302	0.17833	.	.	ENSG00000214113	ENST00000464010	T	0.47869	0.83	2.84	0.844	0.18943	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	1	P	0.48834	0.916	B	0.44044	0.439	T	0.06643	-1.0815	8	0.56958	D	0.05	-7.8424	4.3765	0.11272	0.0:0.5999:0.0:0.4001	.	74	C9JRX8	.	C	74	ENSP00000420026:G74C	ENSP00000420026:G74C	G	-	1	0	LYRM4	5089483	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-1.044000	0.03532	0.039000	0.15632	0.655000	0.94253	GGC	LYRM4	-	NULL		0.542	LYRM4-001	KNOWN	basic|CCDS	protein_coding	LYRM4	HGNC	protein_coding	OTTHUMT00000353461.3	C	NM_020408		5144484	-1	no_errors	ENST00000464010	ensembl	human	putative	70_37	missense	SNP	0.000	A	A	5144484	C	A	5144484	1	1	67	0	1	0	0	0	0	0	0	0	9144	681	24	4		4	LYRM4	6	5144484	Intron	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09		5144484	165970583	41	10164										
HLA-G	3135	genome.wustl.edu	37	chr6	29796508	29796508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gtgaggcggccaatgtggctGaacaaaggagagcctacctg	15	9	0	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr6:29796508G>A	ENST00000360323.6	+	3	556	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	HLA-G_ENST00000428701.1_Missense_Mutation_p.E178K|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.E183K			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	178	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAATGTGGCTGAACAAAGGAG	0.632																																																	0													95	77	83					6																	29796508		1511	2709	4220	SO:0001583	missense	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.532G>A	6.37:g.29796508G>A	ENSP00000353472:p.Glu178Lys			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E183K	ENST00000360323.6	37	c.547	CCDS4668.1	6	.	.	.	.	.	.	.	.	.	.	.	14.09	2.431642	0.43122	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323	T;T;T	0.00013	9.27;9.27;9.27	1.72	-0.555	0.11807	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.204203	0.22883	U	0.054482	T	0.00144	0.0004	M	0.93808	3.46	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.997;0.995	T	0.40021	-0.9585	10	0.87932	D	0	.	4.3059	0.10947	0.1635:0.2342:0.6024:0.0	.	183;178	Q5RJ85;P17693	.;HLAG_HUMAN	K	183;178;178	ENSP00000366024:E183K;ENSP00000412927:E178K;ENSP00000353472:E178K	ENSP00000353472:E178K	E	+	1	0	HLA-G	29904487	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.965000	0.03829	-0.393000	0.07739	0.298000	0.19748	GAA	HLA-G	-	pfam_MHC_I_a_a1/a2		0.632	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	G	NM_002127		29796508	1	no_errors	ENST00000376828	ensembl	human	known	70_37	missense	SNP	0.002	A	A	29796508	G	A	29796508	3	1	67	1	0	0	0	0	1	0	0	0	7232	1291	45	1	542	1	HLA-G	6	29796508	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	24652024	29796508	141318559	42	10165										
C6orf27	80737	genome.wustl.edu	37	chr6	31733689	31733689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tggggccgataccaggagccGgaggaaagcatgagtcgggg	19	8	0	1	rs28399998	byFrequency	TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr6:31733689G>A	ENST00000375688.4	-	16	2670	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.R824W			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	824						extracellular region (GO:0005576)											ACCAGGAGCCGGAGGAAAGCA	0.612													G|||	2	0.000399361	0	0	5008	,	,		17156	0.001		0.001	False		,,,				2504	0																0													105	119	114					6																	31733689		1511	2708	4219	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2470C>T	6.37:g.31733689G>A	ENSP00000364840:p.Arg824Trp		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.R824W	ENST00000375688.4	37	c.2470	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392675	0.42410	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.17691	2.49;2.26	4.75	2.9	0.33743	.	0.558194	0.14873	N	0.293460	T	0.04998	0.0134	L	0.34521	1.04	0.80722	D	1	B	0.15930	0.015	B	0.16722	0.016	T	0.11275	-1.0594	10	0.54805	T	0.06	-10.6306	5.5699	0.17190	0.1017:0.0:0.6829:0.2154	rs28399998;rs28399998	824	Q9Y334	G7C_HUMAN	W	824	ENSP00000364840:R824W;ENSP00000364838:R824W	ENSP00000364838:R824W	R	-	1	2	C6orf27	31841668	0.994000	0.37717	1.000000	0.80357	0.908000	0.53690	0.749000	0.26320	0.670000	0.31165	0.563000	0.77884	CGG	VWA7	-	NULL		0.612	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	G	NM_025258		31733689	-1	no_errors	ENST00000375686	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31733689	G	A	31733689	3	1	67	1	0	0	0	0	1	0	0	0	2367	1115	39	2	212	2	C6orf27	6	31733689	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	1937181	31733689	139381378	43	10166										
KIFC1	3833	genome.wustl.edu	37	chr6	33365938	33365938	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tggaagatggcctggagcctGagaaggtgagctgggcatgg	19	6	0	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr6:33365938G>C	ENST00000428849.2	+	2	595	c.145G>C	c.(145-147)Gag>Cag	p.E49Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	49					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCTGGAGCCTGAGAAGGTGAG	0.537																																																	0													58	61	60					6																	33365938		2203	4300	6503	SO:0001583	missense	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.145G>C	6.37:g.33365938G>C	ENSP00000393963:p.Glu49Gln		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E49Q	ENST00000428849.2	37	c.145	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	G	15.80	2.938952	0.52972	.	.	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.73789	-0.78	4.78	1.84	0.25277	.	0.452031	0.22611	N	0.057830	T	0.31071	0.0785	N	0.24115	0.695	0.23720	N	0.997026	B;B	0.31125	0.309;0.309	B;B	0.24701	0.055;0.055	T	0.10337	-1.0634	10	0.25751	T	0.34	-9.7913	4.9023	0.13781	0.2019:0.2266:0.5715:0.0	.	49;49	B4E063;Q9BW19	.;KIFC1_HUMAN	Q	49	ENSP00000393963:E49Q	ENSP00000393963:E49Q	E	+	1	0	KIFC1	33473916	0.046000	0.20272	0.994000	0.49952	0.965000	0.64279	0.654000	0.24918	0.536000	0.28733	0.455000	0.32223	GAG	KIFC1	-	NULL		0.537	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33365938	1	no_errors	ENST00000428849	ensembl	human	known	70_37	missense	SNP	0.909	C	C	33365938	G	C	33365938	3	2	67	1	0	0	0	0	1	0	0	0	8332	1291	45	1	151	1	KIFC1	6	33365938	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	1632249	33365938	137749129	44	10167										
BAI3	577	genome.wustl.edu	37	chr6	70034857	70034857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cgtggcaatcatatatggctGtaactggaaaaattaggaca	10	6	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr6:70034857G>A	ENST00000370598.1	+	21	3729	c.2908G>A	c.(2908-2910)Gta>Ata	p.V970I	BAI3_ENST00000238918.8_Missense_Mutation_p.V176I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	970					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATATATGGCTGTAACTGGAAA	0.418																																																	0													196	185	189					6																	70034857		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2908G>A	6.37:g.70034857G>A	ENSP00000359630:p.Val970Ile		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.V970I	ENST00000370598.1	37	c.2908	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.440877	0.96168	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.26518	1.73;1.73	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	L	0.35723	1.085	0.80722	D	1	D;P;P	0.63046	0.992;0.92;0.924	D;D;P	0.77004	0.989;0.956;0.497	T	0.05852	-1.0860	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	176;970;970	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	I	970;176	ENSP00000359630:V970I;ENSP00000238918:V176I	ENSP00000238918:V176I	V	+	1	0	BAI3	70091578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.885000	0.99019	0.655000	0.94253	GTA	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70034857	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70034857	G	A	70034857	3	1	67	1	0	0	0	0	1	0	0	0	1301	1377	48	4	2982	4	BAI3	6	70034857	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	36668919	70034857	101080210	45	10168										
C6orf165	154313	genome.wustl.edu	37	chr6	88138520	88138520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gcgactgtgaaaactgatgtGtgtagaatgaaagaacacat	11	5	0	5			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr6:88138520G>A	ENST00000507897.1	+	9	1220	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	C6ORF165_ENST00000369562.4_Silent_p.V379V			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	379										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AAACTGATGTGTGTAGAATGA	0.348																																																	0													107	96	100					6																	88138520		2203	4300	6503	SO:0001819	synonymous_variant	154313			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1137G>A	6.37:g.88138520G>A			A8K969|E1P507|Q8N9U4	Silent	SNP	pfam_DUF3508	p.V379	ENST00000507897.1	37	c.1137	CCDS34498.1	6																																																																																			C6orf165	-	pfam_DUF3508		0.348	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	HGNC	protein_coding	OTTHUMT00000470406.1	G	NM_178823		88138520	1	no_errors	ENST00000369562	ensembl	human	known	70_37	silent	SNP	0.000	A	A	88138520	G	A	88138520	2	1	67	1	0	0	0	0	0	0	0	1	2346	1364	48	4		4	C6orf165	6	88138520	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	18103663	88138520	82976547	46	10169										
VSTM2A	222008	genome.wustl.edu	37	chr7	54612464	54612464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aggacctggatcccggggccGagggggccggcgcgcaggta	20	12	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr7:54612464G>A	ENST00000407838.3	+	2	635	c.229G>A	c.(229-231)Gag>Aag	p.E77K	VSTM2A_ENST00000404951.1_Missense_Mutation_p.E77K|VSTM2A_ENST00000302287.3_Missense_Mutation_p.E77K|VSTM2A_ENST00000402026.2_Missense_Mutation_p.E76K|VSTM2A_ENST00000402613.3_Missense_Mutation_p.E77K	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	77	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCCCGGGGCCGAGGGGGCCGG	0.741																																																	0													13	15	14					7																	54612464		2191	4294	6485	SO:0001583	missense	222008			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.229G>A	7.37:g.54612464G>A	ENSP00000384967:p.Glu77Lys		A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E76K	ENST00000407838.3	37	c.226	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583563	0.28268	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.19	5.19	0.71726	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245446	0.40064	N	0.001194	T	0.24774	0.0601	L	0.29908	0.895	0.43032	D	0.994609	P;P;D	0.59357	0.729;0.907;0.985	B;B;P	0.44860	0.195;0.246;0.462	T	0.02498	-1.1150	10	0.15952	T	0.53	-5.8211	14.2057	0.65732	0.0:0.0:1.0:0.0	.	77;77;77	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	K	77;77;77;76;77	ENSP00000303108:E77K;ENSP00000384967:E77K;ENSP00000384701:E77K;ENSP00000385933:E76K;ENSP00000384103:E77K	ENSP00000303108:E77K	E	+	1	0	VSTM2A	54579958	1.000000	0.71417	0.129000	0.21949	0.032000	0.12392	8.064000	0.89483	2.418000	0.82041	0.542000	0.68232	GAG	VSTM2A	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.741	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	G	NM_182546		54612464	1	no_errors	ENST00000402026	ensembl	human	known	70_37	missense	SNP	0.994	A	A	54612464	G	A	54612464	3	1	67	1	0	0	0	0	1	0	0	0	17260	1059	37	1	235	1	VSTM2A	7	54612464	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		54612464	104526199	47	10170										
SRRT	51593	genome.wustl.edu	37	chr7	100482651	100482651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggccaggctgaggaggagaaGgaggaggccggtagggtttc	21	6	0	2	rs572333813		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr7:100482651G>T	ENST00000347433.4	+	9	1307	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	SRRT_ENST00000457580.2_Missense_Mutation_p.K383N|SRRT_ENST00000432932.1_Missense_Mutation_p.K383N|SRRT_ENST00000388793.4_Missense_Mutation_p.K383N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	383	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGAGGAGAAGGAGGAGGCCG	0.587																																																	0													144	169	160					7																	100482651		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1149G>T	7.37:g.100482651G>T	ENSP00000314491:p.Lys383Asn		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.K383N	ENST00000347433.4	37	c.1149	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037646	0.19669	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T	0.17691	2.26;2.26	5.14	3.32	0.38043	.	0.461311	0.22214	N	0.063054	T	0.24198	0.0586	L	0.29908	0.895	0.44110	D	0.996884	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.78314	0.991;0.991;0.991;0.981	T	0.02015	-1.1229	10	0.31617	T	0.26	.	7.4343	0.27145	0.256:0.0:0.744:0.0	.	383;383;383;383	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	383;383;383;383;13	ENSP00000416553:K383N;ENSP00000314491:K383N	ENSP00000314491:K383N	K	+	3	2	SRRT	100320587	0.999000	0.42202	0.998000	0.56505	0.748000	0.42578	1.190000	0.32126	0.558000	0.29135	0.655000	0.94253	AAG	SRRT	-	NULL		0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482651	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100482651	G	T	100482651	3	4	67	1	0	0	0	0	1	0	0	0	15202	991	35	4	1179	4	SRRT	7	100482651	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	45870187	100482651	58656012	48	10171										
PUS7	54517	genome.wustl.edu	37	chr7	105148719	105148719	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atcttcctcctcttcttcctCatcttccaactgagcctcag	3	17	6	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr7:105148719C>G	ENST00000356362.2	-	2	455	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	PUS7_ENST00000469408.1_Missense_Mutation_p.E81Q	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	81					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCTTCTTCCTCATCTTCCAAC	0.498																																					Colon(138;2387 3051 17860)												0													220	190	201					7																	105148719		2203	4300	6503	SO:0001583	missense	54517			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.241G>C	7.37:g.105148719C>G	ENSP00000348722:p.Glu81Gln		Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.E81Q	ENST00000356362.2	37	c.241	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684156	0.29872	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.44881	0.91;0.91	5.59	5.59	0.84812	.	0.252951	0.38164	N	0.001792	T	0.35068	0.0919	L	0.46157	1.445	0.36640	D	0.8768	B;B	0.23735	0.09;0.09	B;B	0.26310	0.068;0.068	T	0.31447	-0.9943	10	0.22706	T	0.39	-9.5449	10.1701	0.42904	0.0:0.8482:0.0:0.1517	.	81;81	B3KY42;Q96PZ0	.;PUS7_HUMAN	Q	81	ENSP00000348722:E81Q;ENSP00000417402:E81Q	ENSP00000348722:E81Q	E	-	1	0	PUS7	104935955	0.995000	0.38212	0.961000	0.40146	0.440000	0.31957	3.217000	0.51184	2.620000	0.88729	0.561000	0.74099	GAG	PUS7	-	pirsf_PsdUridine_synth_TruD_euk		0.498	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1	C	NM_019042		105148719	-1	no_errors	ENST00000356362	ensembl	human	known	70_37	missense	SNP	0.945	G	G	105148719	C	G	105148719	3	3	67	1	0	0	0	0	1	0	0	0	12863	835	29	1	1804	1	PUS7	7	105148719	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	4666068	105148719	53989944	49	10172										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518156	113518156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	acactatactcttctgtttgGaaaatctggcctatgcatct	6	10	4	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr7:113518156G>T	ENST00000284601.3	-	4	3059	c.2991C>A	c.(2989-2991)ttC>ttA	p.F997L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	997					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCTGTTTGGAAAATCTGGC	0.383																																																	0													116	113	114					7																	113518156		2202	4298	6500	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2991C>A	7.37:g.113518156G>T	ENSP00000284601:p.Phe997Leu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.F997L	ENST00000284601.3	37	c.2991	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.771352	0.00645	.	.	ENSG00000154415	ENST00000284601	T	0.14516	2.5	5.29	1.19	0.21007	.	0.790034	0.11533	N	0.554499	T	0.08088	0.0202	L	0.31065	0.9	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44574	-0.9319	10	0.09590	T	0.72	2.4124	6.0321	0.19686	0.223:0.0:0.647:0.13	.	997	Q16821	PPR3A_HUMAN	L	997	ENSP00000284601:F997L	ENSP00000284601:F997L	F	-	3	2	PPP1R3A	113305392	0.137000	0.22531	0.002000	0.10522	0.059000	0.15707	0.540000	0.23191	0.163000	0.19507	0.650000	0.86243	TTC	PPP1R3A	-	NULL		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113518156	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.004	T	T	113518156	G	T	113518156	3	4	67	1	0	0	0	0	1	0	0	0	12398	1165	41	3	381	3	PPP1R3A	7	113518156	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	8369437	113518156	45620507	50	10173										
RP1	6101	genome.wustl.edu	37	chr8	55533806	55533806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggggcaggcacagcatcacgCgcctggaggagctggaggac	18	11	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr8:55533806C>T	ENST00000220676.1	+	2	428	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	94	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGCATCACGCGCCTGGAGGA	0.622																																					Colon(91;1014 1389 7634 14542 40420)												0													82	71	74					8																	55533806		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.280C>T	8.37:g.55533806C>T	ENSP00000220676:p.Arg94Cys			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R94C	ENST00000220676.1	37	c.280	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	5.017	0.188756	0.09547	.	.	ENSG00000104237	ENST00000220676	D	0.86432	-2.12	5.17	-5.8	0.02347	Doublecortin domain (5);	1.176500	0.06083	N	0.662311	T	0.75539	0.3863	N	0.17082	0.46	0.09310	N	0.999998	B	0.22346	0.068	B	0.15052	0.012	T	0.63202	-0.6690	10	0.87932	D	0	0.9536	10.8393	0.46706	0.6963:0.1025:0.0:0.2011	.	94	P56715	RP1_HUMAN	C	94	ENSP00000220676:R94C	ENSP00000220676:R94C	R	+	1	0	RP1	55696359	0.000000	0.05858	0.077000	0.20336	0.134000	0.20937	-0.649000	0.05384	-0.797000	0.04450	-0.861000	0.03010	CGC	RP1	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.622	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	C	NM_006269		55533806	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55533806	C	T	55533806	3	4	67	1	0	0	0	0	1	0	0	0	13562	768	27	2	282	2	RP1	8	55533806	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09		55533806	90830216	51	10174										
ARFGEF1	10565	genome.wustl.edu	37	chr8	68150647	68150647	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aagagatccttctctgcctcGcactgttccagaaatgtatc	7	12	1	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr8:68150647G>T	ENST00000262215.3	-	22	3609	c.3220C>A	c.(3220-3222)Cga>Aga	p.R1074R	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.R528R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1074					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTCTGCCTCGCACTGTTCCA	0.403																																																	0													92	83	86					8																	68150647		2203	4300	6503	SO:0001819	synonymous_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3220C>A	8.37:g.68150647G>T			Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.R1074	ENST00000262215.3	37	c.3220	CCDS6199.1	8																																																																																			ARFGEF1	-	superfamily_ARM-type_fold		0.403	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	G	NM_006421		68150647	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	silent	SNP	0.993	T	T	68150647	G	T	68150647	2	4	67	1	0	0	0	0	0	0	0	1	852	1095	38	2		2	ARFGEF1	8	68150647	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	12616841	68150647	78213375	52	10175										
LYNX1	66004	genome.wustl.edu	37	chr8	143846091	143846091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggggcccaggcccaggctggGgatatcggggcagcctatgt	18	11	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr8:143846091G>T	ENST00000335822.5	-	5	955	c.328C>A	c.(328-330)Ccc>Acc	p.P110T	LYNX1_ENST00000317543.7_Missense_Mutation_p.P76T|LYNX1_ENST00000523332.1_Intron|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	110	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCAGGCTGGGGATATCGGGG	0.632																																																	0													88	86	87					8																	143846091		2203	4300	6503	SO:0001583	missense	66004			AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.328C>A	8.37:g.143846091G>T	ENSP00000337950:p.Pro110Thr		D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	pfam_LY6_UPAR	p.P110T	ENST00000335822.5	37	c.328	CCDS34951.1	8	.	.	.	.	.	.	.	.	.	.	G	8.985	0.976350	0.18736	.	.	ENSG00000180155	ENST00000317543;ENST00000335822	T;T	0.68181	-0.31;-0.31	3.18	-5.1	0.02911	CD59 antigen (1);	3.763770	0.00496	N	0.000159	T	0.46678	0.1405	N	0.22421	0.69	0.09310	N	1	B;B	0.22983	0.063;0.078	B;B	0.22880	0.025;0.042	T	0.20009	-1.0288	10	0.62326	D	0.03	-20.9954	0.1993	0.00143	0.3442:0.1459:0.2154:0.2944	.	110;76	G3XAC2;Q86SR0	.;SLUR2_HUMAN	T	76;110	ENSP00000319846:P76T;ENSP00000337950:P110T	ENSP00000319846:P76T	P	-	1	0	LYNX1	143843093	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-3.281000	0.00528	-1.259000	0.02468	0.407000	0.27541	CCC	LYNX1	-	pfam_LY6_UPAR		0.632	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	HGNC	protein_coding	OTTHUMT00000379786.3	G	NM_177476		143846091	-1	no_errors	ENST00000335822	ensembl	human	known	70_37	missense	SNP	0.000	T	T	143846091	G	T	143846091	3	4	67	1	0	0	0	0	1	0	0	0	9131	1232	43	4	71	4	LYNX1	8	143846091	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	75695444	143846091	2517931	53	10176										
TNFSF15	9966	genome.wustl.edu	37	chr9	117553053	117553053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgggagtaaatgaagtagtcTcccgactctgggatcagcag	13	8	3	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr9:117553053T>C	ENST00000374045.4	-	4	548	c.435A>G	c.(433-435)ggA>ggG	p.G145G	TNFSF15_ENST00000374044.1_Silent_p.G68G|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	145					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGAAGTAGTCTCCCGACTCTG	0.507																																																	0													132	125	127					9																	117553053		2203	4300	6503	SO:0001819	synonymous_variant	9966			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.435A>G	9.37:g.117553053T>C			Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c	p.G145	ENST00000374045.4	37	c.435	CCDS6809.1	9																																																																																			TNFSF15	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF		0.507	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2	T	NM_005118		117553053	-1	no_errors	ENST00000374045	ensembl	human	known	70_37	silent	SNP	1.000	C	C	117553053	T	C	117553053	2	2	67	1	0	0	0	0	0	0	0	1	16338	1538	54	5		5	TNFSF15	9	117553053	Silent	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09		117553053	23660378	54	10177										
RALGPS1	9649	genome.wustl.edu	37	chr9	129739991	129739991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cagagccagattacattaatGgatatacctgtgtttaaagc	8	7	0	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr9:129739991G>T	ENST00000259351.5	+	4	450	c.183G>T	c.(181-183)atG>atT	p.M61I	RALGPS1_ENST00000394011.3_Missense_Mutation_p.M61I|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M61I|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M61I|RALGPS1_ENST00000373434.1_Missense_Mutation_p.M61I|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M61I	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	61	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TTACATTAATGGATATACCTG	0.388																																																	0													156	146	149					9																	129739991		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.183G>T	9.37:g.129739991G>T	ENSP00000259351:p.Met61Ile		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.M61I	ENST00000259351.5	37	c.183	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392895	0.62066	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.24723	1.88;1.88;1.88;1.84;1.88;1.88;1.88	5.5	5.5	0.81552	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.082269	0.85682	D	0.000000	T	0.30603	0.0770	N	0.20845	0.615	0.58432	D	0.999999	B;B;B;D	0.53885	0.125;0.063;0.103;0.963	B;B;B;P	0.58660	0.154;0.061;0.096;0.843	T	0.01648	-1.1304	10	0.27082	T	0.32	.	15.2567	0.73591	0.0:0.0:1.0:0.0	.	61;61;61;61	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	I	61	ENSP00000259351:M61I;ENSP00000415630:M61I;ENSP00000377590:M61I;ENSP00000377579:M61I;ENSP00000317149:M61I;ENSP00000362535:M61I;ENSP00000362533:M61I	ENSP00000259351:M61I	M	+	3	0	RALGPS1	128779812	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.925000	0.70062	2.741000	0.93983	0.650000	0.86243	ATG	RALGPS1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.388	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	G	NM_014636		129739991	1	no_errors	ENST00000259351	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129739991	G	T	129739991	3	4	67	1	0	0	0	0	1	0	0	0	13047	1348	47	4	193	4	RALGPS1	9	129739991	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	12186938	129739991	11473440	55	10178										
C9orf114	51490	genome.wustl.edu	37	chr9	131592044	131592044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cgggccgcacggccgcttccTgccgcgctccgccatgttcc	12	20	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr9:131592044T>A	ENST00000361256.5	-	1	56	c.16A>T	c.(16-18)Agg>Tgg	p.R6W		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	6							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GGCCGCTTCCTGCCGCGCTCC	0.697																																																	0													13	14	13					9																	131592044		2189	4281	6470	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.16A>T	9.37:g.131592044T>A	ENSP00000354812:p.Arg6Trp		Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.R6W	ENST00000361256.5	37	c.16	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092803	0.36952	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.23950	1.88	5.26	-3.07	0.05363	.	1.515430	0.03559	N	0.226807	T	0.13500	0.0327	N	0.22421	0.69	0.09310	N	1	P;B	0.38788	0.647;0.336	B;B	0.33295	0.161;0.103	T	0.14172	-1.0482	10	0.62326	D	0.03	0.0225	1.5769	0.02626	0.1228:0.3104:0.2492:0.3175	.	6;6	E7ESY7;Q5T280	.;CI114_HUMAN	W	6	ENSP00000354812:R6W	ENSP00000354812:R6W	R	-	1	2	C9orf114	130631865	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.254000	0.08781	-0.504000	0.06577	-0.313000	0.08912	AGG	C9orf114	-	NULL		0.697	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	T	NM_016390		131592044	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	missense	SNP	0.000	A	A	131592044	T	A	131592044	3	1	67	1	0	0	0	0	1	0	0	0	2454	1579	55	5	1162	5	C9orf114	9	131592044	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	1852053	131592044	9621387	56	10179										
SFMBT2	57713	genome.wustl.edu	37	chr10	7244472	7244472	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gttgcacgactgcaatctttCtcttcttttgtgctgtagaa	8	9	3	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr10:7244472C>G	ENST00000361972.4	-	13	1547	c.1457G>C	c.(1456-1458)aGa>aCa	p.R486T	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R486T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	486					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGCAATCTTTCTCTTCTTTTG	0.393																																																	0													157	135	143					10																	7244472		2203	4300	6503	SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1457G>C	10.37:g.7244472C>G	ENSP00000355109:p.Arg486Thr		A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.R486T	ENST00000361972.4	37	c.1457	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756195	0.49362	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.40756	1.02;1.02	5.53	4.62	0.57501	.	0.162881	0.64402	D	0.000008	T	0.46983	0.1421	M	0.71581	2.175	0.80722	D	1	D	0.53151	0.958	P	0.45343	0.477	T	0.48927	-0.8991	10	0.37606	T	0.19	.	13.8378	0.63419	0.0:0.926:0.0:0.074	.	486	Q5VUG0	SMBT2_HUMAN	T	486	ENSP00000355109:R486T;ENSP00000380353:R486T	ENSP00000355109:R486T	R	-	2	0	SFMBT2	7284478	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.100000	0.41777	1.305000	0.44909	0.655000	0.94253	AGA	SFMBT2	-	NULL		0.393	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	C	NM_001029880		7244472	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7244472	C	G	7244472	3	3	67	1	0	0	0	0	1	0	0	0	14188	913	32	1	1263	1	SFMBT2	10	7244472	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09		7244472	128290275	57	10180										
FRMPD2	143162	genome.wustl.edu	37	chr10	49400875	49400875	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	caatctctgaatccaaatgaGaggcttagaccgggcctggt	11	10	1	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr10:49400875G>A	ENST00000374201.3	-	16	2319	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	FRMPD2_ENST00000305531.3_Missense_Mutation_p.L648F|FRMPD2_ENST00000407470.4_Missense_Mutation_p.L641F	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	673					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATCCAAATGAGAGGCTTAGAC	0.458																																																	0													95	89	91					10																	49400875		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2017C>T	10.37:g.49400875G>A	ENSP00000363317:p.Leu673Phe		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.L673F	ENST00000374201.3	37	c.2017	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822851	0.16678	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.82619	-1.63;-1.63;-1.63	4.7	1.65	0.23941	.	.	.	.	.	T	0.81870	0.4914	L	0.47716	1.5	0.09310	N	1	P;P;P	0.51351	0.944;0.89;0.944	P;B;P	0.53722	0.733;0.367;0.733	T	0.69165	-0.5217	9	0.20519	T	0.43	.	9.3648	0.38217	0.0:0.2947:0.5528:0.1525	.	648;673;641	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	F	673;648;641	ENSP00000363317:L673F;ENSP00000307079:L648F;ENSP00000384339:L641F	ENSP00000307079:L648F	L	-	1	0	FRMPD2	49070881	0.993000	0.37304	0.001000	0.08648	0.626000	0.37791	1.478000	0.35442	0.118000	0.18165	0.655000	0.94253	CTC	FRMPD2	-	NULL		0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	G	NM_152428		49400875	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.004	A	A	49400875	G	A	49400875	3	1	67	1	0	0	0	0	1	0	0	0	6076	942	33	1	1968	1	FRMPD2	10	49400875	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	42156403	49400875	86133872	58	10181										
LRIT1	26103	genome.wustl.edu	37	chr10	85997035	85997035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cggtctccaggtgagcccagGagacgatgagctcctgcggg	16	12	1	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr10:85997035G>C	ENST00000372105.3	-	2	551	c.530C>G	c.(529-531)tCc>tGc	p.S177C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	177						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTGAGCCCAGGAGACGATGAG	0.637																																																	0													14	14	14					10																	85997035		1949	3736	5685	SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.530C>G	10.37:g.85997035G>C	ENSP00000361177:p.Ser177Cys		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S177C	ENST00000372105.3	37	c.530	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	5.381	0.255543	0.10185	.	.	ENSG00000148602	ENST00000372105	T	0.53423	0.62	4.55	2.59	0.31030	.	0.716363	0.13595	N	0.376290	T	0.41166	0.1147	L	0.59967	1.855	0.09310	N	1	B	0.21606	0.058	B	0.24394	0.053	T	0.40683	-0.9550	10	0.56958	D	0.05	.	4.8562	0.13561	0.1948:0.1771:0.6281:0.0	.	177	Q9P2V4	LRIT1_HUMAN	C	177	ENSP00000361177:S177C	ENSP00000361177:S177C	S	-	2	0	LRIT1	85987015	0.045000	0.20229	0.051000	0.19133	0.321000	0.28281	0.945000	0.29056	0.462000	0.27095	0.655000	0.94253	TCC	LRIT1	-	smart_Leu-rich_rpt_typical-subtyp		0.637	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	G	NM_015613		85997035	-1	no_errors	ENST00000372105	ensembl	human	known	70_37	missense	SNP	0.019	C	C	85997035	G	C	85997035	3	2	67	1	0	0	0	0	1	0	0	0	8970	1174	41	1	1353	1	LRIT1	10	85997035	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	36596160	85997035	49537712	59	10182										
TLL2	7093	genome.wustl.edu	37	chr10	98172979	98172979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gtacagcttccgggcttgagCtatgtctccctgactgagcc	11	13	1	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr10:98172979C>T	ENST00000357947.3	-	8	1243	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	340	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGGCTTGAGCTATGTCTCCC	0.557																																																	0													67	59	62					10																	98172979		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1018G>A	10.37:g.98172979C>T	ENSP00000350630:p.Ala340Thr		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.A340T	ENST00000357947.3	37	c.1018	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069068	0.76301	.	.	ENSG00000095587	ENST00000357947	T	0.63744	-0.06	5.28	5.28	0.74379	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.45361	D	0.000370	T	0.52581	0.1743	L	0.34521	1.04	0.58432	D	0.999999	P	0.44659	0.84	B	0.38500	0.275	T	0.54833	-0.8234	10	0.37606	T	0.19	.	17.9	0.88900	0.0:1.0:0.0:0.0	.	340	Q9Y6L7	TLL2_HUMAN	T	340	ENSP00000350630:A340T	ENSP00000350630:A340T	A	-	1	0	TLL2	98162969	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.815000	0.62634	2.478000	0.83669	0.455000	0.32223	GCT	TLL2	-	pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A		0.557	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98172979	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98172979	C	T	98172979	3	4	67	1	0	0	0	0	1	0	0	0	15976	797	28	4	2085	4	TLL2	10	98172979	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	12175944	98172979	37361768	60	10183										
NRAP	3026	genome.wustl.edu	37	chr10	115351979	115351979	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggcgatctccctagatgcccGggcagtctggaaggggatgg	17	10	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr10:115351979G>A	ENST00000351270.3	+	0	3009				NRAP_ENST00000359988.3_Missense_Mutation_p.R1540W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1505W|NRAP_ENST00000369360.3_Missense_Mutation_p.R1513W|NRAP_ENST00000369358.4_Missense_Mutation_p.R1548W	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CTAGATGCCCGGGCAGTCTGG	0.507																																																	0													75	74	74					10																	115351979		2203	4300	6503	SO:0001628	intergenic_variant	4892				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115351979G>A			A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.R1548W	ENST00000351270.3	37	c.4642	CCDS7577.1	10	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467789	0.84533	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.21543	2.28;2.27;2.14;2.0	5.67	3.49	0.39957	.	0.053770	0.64402	D	0.000001	T	0.33847	0.0877	L	0.39898	1.24	0.39846	D	0.973179	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.67382	0.918;0.951;0.895	T	0.19811	-1.0294	10	0.87932	D	0	.	12.2035	0.54339	0.0:0.0:0.4366:0.5634	.	1540;1505;1540	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	W	1548;1513;1540;1505	ENSP00000358365:R1548W;ENSP00000358367:R1513W;ENSP00000353078:R1540W;ENSP00000353666:R1505W	ENSP00000353078:R1540W	R	-	1	2	NRAP	115341969	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	4.548000	0.60718	1.472000	0.48140	0.655000	0.94253	CGG	NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050428.1	G	NM_004132		115351979	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115351979	G	A	115351979	1	1	67	0	1	0	0	0	0	0	0	0	10662	1115	39	2		2	NRAP	10	115351979	IGR	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	17179000	115351979	20182768	61	10184										
MUC5B	727897	genome.wustl.edu	37	chr11	1274084	1274084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	actgcacggtggccaggtgcGtgggtgacaaccgtgtcgtc	16	11	0	1	rs369603904		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr11:1274084G>A	ENST00000529681.1	+	33	15149	c.15091G>A	c.(15091-15093)Gtg>Atg	p.V5031M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5034M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5031					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCAGGTGCGTGGGTGACAA	0.632																																																	0								G	MET/VAL	0,4278		0,0,2139	56	66	63		15091	3.9	0.1	11		63	2,8450		0,2,4224	no	missense	MUC5B	NM_002458.2	21	0,2,6363	AA,AG,GG		0.0237,0.0,0.0157	probably-damaging	5031/5763	1274084	2,12728	2139	4226	6365	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15091G>A	11.37:g.1274084G>A	ENSP00000436812:p.Val5031Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V5034M	ENST00000529681.1	37	c.15100	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040801	0.19669	0.0	2.37E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	4.86	3.93	0.45458	.	.	.	.	.	T	0.16214	0.0390	L	0.36672	1.1	0.09310	N	1	D;D	0.63880	0.993;0.993	B;B	0.44278	0.352;0.445	T	0.08806	-1.0704	9	0.87932	D	0	.	9.5817	0.39493	0.0:0.161:0.6837:0.1553	.	5353;5034	A7Y9J9;E9PBJ0	.;.	M	5031;5034;4975;4730	ENSP00000436812:V5031M;ENSP00000415793:V5034M	ENSP00000343037:V4975M	V	+	1	0	MUC5B	1230660	0.002000	0.14202	0.112000	0.21494	0.032000	0.12392	0.755000	0.26405	1.310000	0.45006	0.561000	0.74099	GTG	MUC5B	-	NULL		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1274084	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.271	A	A	1274084	G	A	1274084	3	1	67	1	0	0	0	0	1	0	0	0	10002	1145	40	2	15230	2	MUC5B	11	1274084	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		1274084	133732432	62	10185										
MMP1	4312	genome.wustl.edu	37	chr11	102663348	102663348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aagattacctttgaaaaaccGgacttcatctctgtcggcaa	7	10	2	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr11:102663348G>A	ENST00000315274.6	-	7	1088	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	341					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TTGAAAAACCGGACTTCATCT	0.383																																																	0													113	116	115					11																	102663348		2203	4299	6502	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1021C>T	11.37:g.102663348G>A	ENSP00000322788:p.Arg341Trp		P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R341W	ENST00000315274.6	37	c.1021	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	g	16.91	3.253146	0.59212	.	.	ENSG00000196611	ENST00000315274	T	0.02323	4.34	6.16	3.05	0.35203	Hemopexin/matrixin (2);	3.201940	0.01475	N	0.016430	T	0.12305	0.0299	L	0.58302	1.8	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.14839	-1.0458	10	0.72032	D	0.01	.	4.8208	0.13390	0.1574:0.0:0.4441:0.3984	.	341	P03956	MMP1_HUMAN	W	341	ENSP00000322788:R341W	ENSP00000322788:R341W	R	-	1	2	MMP1	102168558	0.000000	0.05858	0.331000	0.25455	0.991000	0.79684	-0.499000	0.06413	1.597000	0.50072	0.650000	0.86243	CGG	MMP1	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.383	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	G	NM_002421		102663348	-1	no_errors	ENST00000315274	ensembl	human	known	70_37	missense	SNP	0.000	A	A	102663348	G	A	102663348	3	1	67	1	0	0	0	0	1	0	0	0	9671	1115	39	2	404	2	MMP1	11	102663348	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	101389264	102663348	32343168	63	10186										
CCDC84	338657	genome.wustl.edu	37	chr11	118869204	118869204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctatgtgcccgaacacgagcGatgctgctggtgcctgtgct	13	12	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr11:118869204G>A	ENST00000334418.1	+	2	241	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	RP11-110I1.12_ENST00000526453.1_lincRNA	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	62										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GAACACGAGCGATGCTGCTGG	0.677																																																	0													33	33	33					11																	118869204		2200	4294	6494	SO:0001583	missense	338657			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.185G>A	11.37:g.118869204G>A	ENSP00000334767:p.Arg62Gln			Missense_Mutation	SNP	NULL	p.R62Q	ENST00000334418.1	37	c.185	CCDS8405.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156508	0.38119	.	.	ENSG00000186166	ENST00000334418	T	0.42513	0.97	5.12	4.14	0.48551	.	0.393091	0.28465	N	0.015259	T	0.17746	0.0426	N	0.03608	-0.345	0.09310	N	0.99999	B	0.19706	0.038	B	0.08055	0.003	T	0.12528	-1.0544	10	0.15066	T	0.55	-19.1235	10.4152	0.44318	0.1019:0.0:0.8981:0.0	.	62	Q86UT8	CCD84_HUMAN	Q	62	ENSP00000334767:R62Q	ENSP00000334767:R62Q	R	+	2	0	CCDC84	118374414	0.924000	0.31332	0.687000	0.30102	0.979000	0.70002	1.995000	0.40767	2.672000	0.90937	0.650000	0.86243	CGA	CCDC84	-	NULL		0.677	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC84	HGNC	protein_coding	OTTHUMT00000389315.1	G	NM_198489		118869204	1	no_errors	ENST00000334418	ensembl	human	known	70_37	missense	SNP	0.245	A	A	118869204	G	A	118869204	3	1	67	1	0	0	0	0	1	0	0	0	2863	1058	37	1	191	1	CCDC84	11	118869204	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	16205856	118869204	16137312	64	10187										
OR10S1	219873	genome.wustl.edu	37	chr11	123847819	123847819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctttaggacagggggtatgtCgcagaagaagtaggcaatgt	15	5	0	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr11:123847819C>T	ENST00000531945.1	-	1	669	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											93	76	82					11																	123847819		2202	4299	6501	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.580G>A	11.37:g.123847819C>T	ENSP00000431914:p.Asp194Asn		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D194N	ENST00000531945.1	37	c.580	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111956	0.56398	.	.	ENSG00000196248	ENST00000531945	T	0.00188	8.59	5.08	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	U	0.000510	T	0.00412	0.0013	M	0.91459	3.21	0.25226	N	0.989868	D	0.58620	0.983	P	0.46208	0.507	T	0.28996	-1.0026	10	0.87932	D	0	-21.1723	13.5941	0.61979	0.0:0.9245:0.0:0.0755	.	194	Q8NGN2	O10S1_HUMAN	N	194	ENSP00000431914:D194N	ENSP00000431914:D194N	D	-	1	0	OR10S1	123353029	0.999000	0.42202	0.998000	0.56505	0.700000	0.40528	2.165000	0.42396	1.379000	0.46325	-0.127000	0.14921	GAC	OR10S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.567	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	C	NM_001004474		123847819	-1	no_errors	ENST00000531945	ensembl	human	known	70_37	missense	SNP	0.981	T	T	123847819	C	T	123847819	3	4	67	1	0	0	0	0	1	0	0	0	10942	884	31	1	419	1	OR10S1	11	123847819	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	4978615	123847819	11158697	65	10188										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43822200	43822200	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aagtggctgtgtgcaggaggGcaggctgccaggctacattc	16	9	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:43822200G>T	ENST00000389420.3	-	26	3788	c.3789C>A	c.(3787-3789)tgC>tgA	p.C1263*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.C381*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.C1263*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1263	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTGCAGGAGGGCAGGCTGCCA	0.438																																																	0													82	81	81					12																	43822200		2203	4300	6503	SO:0001587	stop_gained	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3789C>A	12.37:g.43822200G>T	ENSP00000374071:p.Cys1263*		A6NNC9|J3QT00	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C1263*	ENST00000389420.3	37	c.3789	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	37	6.215627	0.97385	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	5.35	2.55	0.30701	.	0.000000	0.48767	D	0.000168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6352	0.39804	0.2896:0.0:0.7104:0.0	.	.	.	.	X	1263;393;381;1263;1263	.	ENSP00000374068:C1263X	C	-	3	2	ADAMTS20	42108467	1.000000	0.71417	0.971000	0.41717	0.022000	0.10575	2.460000	0.45031	0.912000	0.36772	0.585000	0.79938	TGC	ADAMTS20	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.438	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	G	NM_025003		43822200	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	43822200	G	T	43822200	4	4	67	1	0	0	0	0	0	1	0	0	266	1195	42	4	1998	4	ADAMTS20	12	43822200	Nonsense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		43822200	90029695	66	10189										
KRT86	3892	genome.wustl.edu	37	chr12	52699033	52699033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	acctcctgcaggagatccgcGttctccagtcccacatctca	7	17	2	1	rs61914259	byFrequency	TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:52699033G>A	ENST00000423955.2	+	7	923	c.745G>A	c.(745-747)Gtt>Att	p.V249I	KRT86_ENST00000544024.1_Missense_Mutation_p.V249I|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Missense_Mutation_p.V249I			O43790	KRT86_HUMAN	keratin 86	249	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGATCCGCGTTCTCCAGTC	0.567																																																	0													146	126	133					12																	52699033		2203	4300	6503	SO:0001583	missense	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.745G>A	12.37:g.52699033G>A	ENSP00000444533:p.Val249Ile		P78387	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V249I	ENST00000423955.2	37	c.745	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123100	0.20959	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.88741	-2.42;-2.42;-2.42	4.69	0.639	0.17747	Filament (1);	0.200519	0.24003	N	0.042444	T	0.79545	0.4464	L	0.39566	1.225	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.61019	-0.7147	10	0.19147	T	0.46	.	5.6128	0.17414	0.3148:0.1288:0.5563:0.0	rs61914259	249	O43790	KRT86_HUMAN	I	249	ENSP00000443169:V249I;ENSP00000444533:V249I;ENSP00000293525:V249I	ENSP00000293525:V249I	V	+	1	0	AC021066.1;KRT86	50985300	0.534000	0.26362	0.012000	0.15200	0.332000	0.28634	2.299000	0.43611	0.091000	0.17302	-0.317000	0.08691	GTT	KRT86	-	pfam_F,superfamily_Prefoldin		0.567	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	G	NM_002284		52699033	1	no_errors	ENST00000293525	ensembl	human	known	70_37	missense	SNP	0.056	A	A	52699033	G	A	52699033	3	1	67	1	0	0	0	0	1	0	0	0	8520	1145	40	2	763	2	KRT86	12	52699033	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	8876833	52699033	81152862	67	10190										
MBD6	114785	genome.wustl.edu	37	chr12	57920028	57920028	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cacccctggcccttcccactCtgatggaagctttaaccttt	6	16	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:57920028C>G	ENST00000355673.3	+	6	1633	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	MBD6_ENST00000431731.2_Missense_Mutation_p.S426C	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	426	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTTCCCACTCTGATGGAAGC	0.627																																																	0													79	90	87					12																	57920028		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1277C>G	12.37:g.57920028C>G	ENSP00000347896:p.Ser426Cys		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S426C	ENST00000355673.3	37	c.1277	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	c	13.34	2.208016	0.39003	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.82	3.82	0.43975	.	0.380726	0.18645	N	0.135162	T	0.50137	0.1598	N	0.08118	0	0.40273	D	0.978317	D;D	0.76494	0.999;0.999	D;D	0.79784	0.987;0.993	T	0.50423	-0.8830	8	.	.	.	-7.1707	13.0935	0.59178	0.0:1.0:0.0:0.0	.	426;426	Q6P0P0;Q96DN6	.;MBD6_HUMAN	C	426	.	.	S	+	2	0	MBD6	56206295	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.983000	0.56916	2.125000	0.65367	0.556000	0.70494	TCT	MBD6	-	NULL		0.627	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57920028	1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57920028	C	G	57920028	3	3	67	1	0	0	0	0	1	0	0	0	9371	913	32	1	1291	1	MBD6	12	57920028	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	5220995	57920028	75931867	68	10191										
CHST11	50515	genome.wustl.edu	37	chr12	105151391	105151391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	agaggattctaattacgtccTgcagctggcaggagtgggca	14	8	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:105151391T>C	ENST00000303694.5	+	3	1308	c.869T>C	c.(868-870)cTg>cCg	p.L290P	CHST11_ENST00000549260.1_Missense_Mutation_p.L285P	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	290					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AATTACGTCCTGCAGCTGGCA	0.507																																																	0													110	96	101					12																	105151391		2203	4300	6503	SO:0001583	missense	50515			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.869T>C	12.37:g.105151391T>C	ENSP00000305725:p.Leu290Pro		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L290P	ENST00000303694.5	37	c.869	CCDS9099.1	12	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448968	0.63178	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.78364	-1.17;-1.17	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93939	0.7221	10	0.87932	D	0	-20.9748	15.1649	0.72814	0.0:0.0:0.0:1.0	.	285;290	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	P	285;290	ENSP00000450004:L285P;ENSP00000305725:L290P	ENSP00000305725:L290P	L	+	2	0	CHST11	103675521	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.040000	0.89188	1.997000	0.58415	0.454000	0.30748	CTG	CHST11	-	pfam_Sulfotransferase		0.507	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	HGNC	protein_coding	OTTHUMT00000405960.2	T	NM_018413		105151391	1	no_errors	ENST00000303694	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105151391	T	C	105151391	3	2	67	1	0	0	0	0	1	0	0	0	3404	1580	55	5	879	5	CHST11	12	105151391	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	47231363	105151391	28700504	69	10192										
SRRM4	84530	genome.wustl.edu	37	chr12	119594444	119594444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cggagtcggagccggagccgGagacggagccggacccgcac	18	14	0	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:119594444G>A	ENST00000267260.4	+	13	2065	c.1677G>A	c.(1675-1677)cgG>cgA	p.R559R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	559	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						gccggagccggagacggagcc	0.731																																																	0													6	8	8					12																	119594444		1970	4133	6103	SO:0001819	synonymous_variant	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1677G>A	12.37:g.119594444G>A			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.R559	ENST00000267260.4	37	c.1677	CCDS44994.1	12																																																																																			SRRM4	-	NULL		0.731	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	G	NM_194286		119594444	1	no_errors	ENST00000267260	ensembl	human	known	70_37	silent	SNP	0.961	A	A	119594444	G	A	119594444	2	1	67	1	0	0	0	0	0	0	0	1	15201	1161	41	1		1	SRRM4	12	119594444	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	14443053	119594444	14257451	70	10193										
VPS33A	65082	genome.wustl.edu	37	chr12	122745896	122745896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cctccctgtgaataaaggatCccaagacacccagatccttc	6	15	0	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:122745896C>T	ENST00000267199.4	-	4	507	c.395G>A	c.(394-396)gGa>gAa	p.G132E	VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.G132E|VPS33A_ENST00000451053.2_Missense_Mutation_p.G132E	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	132					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATAAAGGATCCCAAGACACC	0.473																																																	0													114	101	106					12																	122745896		2203	4300	6503	SO:0001583	missense	65082			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.395G>A	12.37:g.122745896C>T	ENSP00000267199:p.Gly132Glu		Q547V4|Q9H5Q0	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.G132E	ENST00000267199.4	37	c.395	CCDS9231.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.618912	0.87460	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	T;T	0.28666	1.6;1.6	5.11	5.11	0.69529	.	0.237215	0.42682	D	0.000663	T	0.56381	0.1981	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.63880	0.993;0.992	D;D	0.65140	0.932;0.921	T	0.60662	-0.7219	10	0.72032	D	0.01	-22.205	18.8821	0.92360	0.0:1.0:0.0:0.0	.	132;132	F5H6Y0;Q96AX1	.;VP33A_HUMAN	E	132	ENSP00000267199:G132E;ENSP00000442951:G132E	ENSP00000446319:G132E	G	-	2	0	VPS33A	121311849	0.996000	0.38824	0.999000	0.59377	0.956000	0.61745	2.985000	0.49362	2.544000	0.85801	0.561000	0.74099	GGA	VPS33A	-	pfam_Sec1-like,superfamily_Sec1-like		0.473	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	HGNC	protein_coding	OTTHUMT00000401607.2	C			122745896	-1	no_errors	ENST00000267199	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122745896	C	T	122745896	3	4	67	1	0	0	0	0	1	0	0	0	17232	855	30	1	1435	1	VPS33A	12	122745896	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	3151452	122745896	11105999	71	10194			2	45		2	2	21	C		7.817062e-05
VPS33A	65082	genome.wustl.edu	37	chr12	122745916	122745916	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cccaagacacccagatccttCaaccgctgttcgcacaacag	6	17	1	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:122745916C>T	ENST00000267199.4	-	4	487	c.375G>A	c.(373-375)ttG>ttA	p.L125L	VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Silent_p.L125L|VPS33A_ENST00000451053.2_Silent_p.L125L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	125					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCAGATCCTTCAACCGCTGTT	0.478																																																	0													105	93	97					12																	122745916		2203	4300	6503	SO:0001819	synonymous_variant	65082			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.375G>A	12.37:g.122745916C>T			Q547V4|Q9H5Q0	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L125	ENST00000267199.4	37	c.375	CCDS9231.1	12																																																																																			VPS33A	-	pfam_Sec1-like,superfamily_Sec1-like		0.478	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	HGNC	protein_coding	OTTHUMT00000401607.2	C			122745916	-1	no_errors	ENST00000267199	ensembl	human	known	70_37	silent	SNP	1.000	T	T	122745916	C	T	122745916	2	4	67	1	0	0	0	0	0	0	0	1	17232	825	29	1		1	VPS33A	12	122745916	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	20	122745916	11105979	72	10195			2	45		2	2	21	C		7.817062e-05
CLIP1	6249	genome.wustl.edu	37	chr12	122794404	122794404	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgaaagctgctgggacttctGagctgctgcctgctttaggg	14	9	1	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr12:122794404G>A	ENST00000540338.1	-	19	3540	c.3499C>T	c.(3499-3501)Cag>Tag	p.Q1167*	CLIP1_ENST00000358808.2_Nonsense_Mutation_p.Q1156*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q1121*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.Q742*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q1156*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q1045*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1167					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGGACTTCTGAGCTGCTGCC	0.507																																																	0													98	78	84					12																	122794404		2203	4300	6503	SO:0001587	stop_gained	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3499C>T	12.37:g.122794404G>A	ENSP00000439093:p.Gln1167*		A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.Q1167*	ENST00000540338.1	37	c.3499	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.557330	0.99204	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	5.5	4.41	0.53225	.	0.471756	0.23987	N	0.042609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-17.9144	11.5431	0.50677	0.0787:0.1298:0.7915:0.0	.	.	.	.	X	742;1156;1156;886;198;1121;1167	.	ENSP00000303585:Q1156X	Q	-	1	0	CLIP1	121360357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.521000	0.60532	2.592000	0.87571	0.650000	0.86243	CAG	CLIP1	-	NULL		0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	G	NM_002956		122794404	-1	no_errors	ENST00000540338	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	122794404	G	A	122794404	4	1	67	1	0	0	0	0	0	1	0	0	3537	1299	45	1	845	1	CLIP1	12	122794404	Nonsense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	48488	122794404	11057491	73	10196										
ENOX1	55068	genome.wustl.edu	37	chr13	43843680	43843680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ttgttccaattctgacttttTgttgtttaactcctcctgga	6	9	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr13:43843680T>G	ENST00000261488.6	-	13	2057	c.1480A>C	c.(1480-1482)Aaa>Caa	p.K494Q	ENOX1_ENST00000412891.1_Missense_Mutation_p.K494Q	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	494					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCTGACTTTTTGTTGTTTAAC	0.368																																																	0													310	255	273					13																	43843680		2203	4300	6503	SO:0001583	missense	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1480A>C	13.37:g.43843680T>G	ENSP00000261488:p.Lys494Gln		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K494Q	ENST00000261488.6	37	c.1480	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	T	16.14	3.040241	0.55003	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.51071	0.72;0.72	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.55834	1.745	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.59579	-0.7428	10	0.30078	T	0.28	-15.8651	16.4159	0.83738	0.0:0.0:0.0:1.0	.	494	Q8TC92	ENOX1_HUMAN	Q	494	ENSP00000261488:K494Q;ENSP00000415054:K494Q	ENSP00000261488:K494Q	K	-	1	0	ENOX1	42741680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.245000	0.65405	2.279000	0.76181	0.533000	0.62120	AAA	ENOX1	-	NULL		0.368	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	T	NM_017993		43843680	-1	no_errors	ENST00000261488	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43843680	T	G	43843680	3	3	67	1	0	0	0	0	1	0	0	0	5138	1821	63	5	471	5	ENOX1	13	43843680	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09		43843680	71326198	74	10197										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21793410	21793410	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggagctggtggagaagagttCggggttctagagtactggat	18	4	1	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr14:21793410C>T	ENST00000400017.2	+	15	2235	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000206660.6_Silent_p.F745F|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Silent_p.F707F|RPGRIP1_ENST00000307974.4_Silent_p.F104F	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	745					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.F361F(1)|p.F745F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGAAGAGTTCGGGGTTCTAG	0.493																																																	2	Substitution - coding silent(2)	prostate(2)											48	47	47					14																	21793410		1876	4111	5987	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2235C>T	14.37:g.21793410C>T			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F745	ENST00000400017.2	37	c.2235	CCDS45080.1	14																																																																																			RPGRIP1	-	pfam_DUF3250		0.493	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21793410	1	no_errors	ENST00000206660	ensembl	human	known	70_37	silent	SNP	0.550	T	T	21793410	C	T	21793410	2	4	67	1	0	0	0	0	0	0	0	1	13579	883	31	1		1	RPGRIP1	14	21793410	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09		21793410	85556130	75	10198										
SYNE2	23224	genome.wustl.edu	37	chr14	64676741	64676741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggcggctggcccgggagaacCgcacagacacggccagcagg	17	14	0	2	rs377305355		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr14:64676741C>T	ENST00000344113.4	+	103	18834	c.18622C>T	c.(18622-18624)Cgc>Tgc	p.R6208C	SYNE2_ENST00000357395.3_Missense_Mutation_p.R2593C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2593C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6167C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2842C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6208C|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000555022.1_Missense_Mutation_p.R86C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6208					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCGGGAGAACCGCACAGACAC	0.637																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	42	44	44		18622,18622	4.7	1	14		44	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	180,180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	6208/6886,6208/6908	64676741	4,13002	2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18622C>T	14.37:g.64676741C>T	ENSP00000341781:p.Arg6208Cys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R6208C	ENST00000344113.4	37	c.18622	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177005	0.57692	0.0	4.65E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.63	4.74	0.60224	.	0.135690	0.33290	N	0.005062	T	0.62183	0.2407	M	0.81802	2.56	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.76;0.999;1.0	D;D;B;D;D	0.97110	1.0;1.0;0.147;0.995;0.959	T	0.68277	-0.5451	10	0.87932	D	0	.	14.4049	0.67075	0.0:0.9285:0.0:0.0715	.	2593;596;6167;6208;6208	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	C	6208;2593;6208;6167;6173;2842;2593;86	ENSP00000350719:R6208C;ENSP00000349969:R2593C;ENSP00000341781:R6208C;ENSP00000452570:R6167C;ENSP00000450831:R2842C;ENSP00000378249:R2593C;ENSP00000451009:R86C	ENSP00000261678:R6173C	R	+	1	0	SYNE2	63746494	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.562000	0.82300	1.351000	0.45789	0.609000	0.83330	CGC	SYNE2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64676741	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64676741	C	T	64676741	3	4	67	1	0	0	0	0	1	0	0	0	15476	652	23	2	19028	2	SYNE2	14	64676741	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	42883331	64676741	42672799	76	10199										
GPR68	8111	genome.wustl.edu	37	chr14	91701285	91701285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	agagggacaggcagttggccGggaagcccaccaccagcacg	15	13	0	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr14:91701285G>A	ENST00000531499.2	-	2	449	c.110C>T	c.(109-111)cCg>cTg	p.P37L	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000238699.3_Missense_Mutation_p.P47L|GPR68_ENST00000535815.1_Missense_Mutation_p.P37L			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	37					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCAGTTGGCCGGGAAGCCCAC	0.602																																																	0													81	71	74					14																	91701285		2203	4300	6503	SO:0001583	missense	8111			U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.110C>T	14.37:g.91701285G>A	ENSP00000434045:p.Pro37Leu		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.P47L	ENST00000531499.2	37	c.140	CCDS9894.2	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987342	0.74589	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.32877	-0.9890	10	0.02654	T	1	.	19.48	0.95005	0.0:0.0:1.0:0.0	.	37;37	Q6NWR5;Q15743	.;OGR1_HUMAN	L	37;47;37;37	ENSP00000434045:P37L;ENSP00000238699:P47L;ENSP00000440797:P37L;ENSP00000432740:P37L	ENSP00000238699:P47L	P	-	2	0	GPR68	90771038	1.000000	0.71417	0.829000	0.32907	0.882000	0.50991	7.787000	0.85759	2.606000	0.88127	0.655000	0.94253	CCG	GPR68	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.602	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	G			91701285	-1	no_errors	ENST00000238699	ensembl	human	known	70_37	missense	SNP	0.974	A	A	91701285	G	A	91701285	3	1	67	1	0	0	0	0	1	0	0	0	6726	1116	39	2	991	2	GPR68	14	91701285	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	27024544	91701285	15648255	77	10200										
GOLGA8A	23015	genome.wustl.edu	37	chr15	34677517	34677517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tatttagtttctttttctctGtgttcaatctctggatttga	6	6	4	1	rs3179271	byFrequency	TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr15:34677517G>A	ENST00000359187.4	-	6	459	c.395C>T	c.(394-396)aCa>aTa	p.T132I	GOLGA8A_ENST00000543376.1_5'UTR|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.T132I|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.T162I	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	160						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTTTTCTCTGTGTTCAATCT	0.443													g|||	1236	0.246805	0.205	0.3473	5008	,	,		19221	0.1677		0.2594	False		,,,				2504	0.3006																0													1	1	1					15																	34677517		70	330	400	SO:0001583	missense	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.395C>T	15.37:g.34677517G>A	ENSP00000352111:p.Thr132Ile		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.T162I	ENST00000359187.4	37	c.485	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.523871	0.00149	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566	T;T;T	0.12255	2.7;2.7;2.7	0.379	0.379	0.16213	.	.	.	.	.	T	0.03136	0.0092	N	0.00823	-1.155	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.41124	-0.9526	8	0.22109	T	0.4	.	.	.	.	.	132	A7E2F4-3	.	I	132;132;162	ENSP00000352111:T132I;ENSP00000353755:T132I;ENSP00000402791:T162I	ENSP00000352111:T132I	T	-	2	0	GOLGA8A	32464809	0.063000	0.20901	0.001000	0.08648	0.020000	0.10135	-0.265000	0.08644	-0.886000	0.03966	-1.451000	0.01035	ACA	GOLGA8A	-	NULL		0.443	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	G	NM_181076		34677517	-1	no_errors	ENST00000432566	ensembl	human	known	70_37	missense	SNP	0.001	A	A	34677517	G	A	34677517	3	1	67	1	0	0	0	0	1	0	0	0	6582	1377	48	4	1460	4	GOLGA8A	15	34677517	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		34677517	67853875	78	10201										
DNAJC17	55192	genome.wustl.edu	37	chr15	41068475	41068475	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cagctgccgggaaccctcttCtctcaggcgttcgatctgca	10	15	4	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr15:41068475C>T	ENST00000220496.4	-	6	427	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	133					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAACCCTCTTCTCTCAGGCGT	0.592																																																	0													60	52	55					15																	41068475		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.397G>A	15.37:g.41068475C>T	ENSP00000220496:p.Glu133Lys			Missense_Mutation	SNP	pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E133K	ENST00000220496.4	37	c.397	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356213	0.61293	.	.	ENSG00000104129	ENST00000220496	T	0.20598	2.06	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.38953	1.18	0.80722	D	1	B	0.25007	0.116	B	0.19666	0.026	T	0.04737	-1.0930	10	0.20046	T	0.44	.	17.2528	0.87047	0.0:1.0:0.0:0.0	.	133	Q9NVM6	DJC17_HUMAN	K	133	ENSP00000220496:E133K	ENSP00000220496:E133K	E	-	1	0	DNAJC17	38855767	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	5.644000	0.67902	2.407000	0.81776	0.561000	0.74099	GAA	DNAJC17	-	NULL		0.592	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	C	NM_018163		41068475	-1	no_errors	ENST00000220496	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41068475	C	T	41068475	3	4	67	1	0	0	0	0	1	0	0	0	4646	922	32	1	541	1	DNAJC17	15	41068475	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	6390958	41068475	61462917	79	10202										
MAP1A	4130	genome.wustl.edu	37	chr15	43814952	43814952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aaagagatcaaaaaggagagGaaagagctcaagaaggatga	13	3	2	5			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr15:43814952G>T	ENST00000300231.5	+	4	1731	c.1281G>T	c.(1279-1281)agG>agT	p.R427S	MAP1A_ENST00000399453.1_Missense_Mutation_p.R427S|MAP1A_ENST00000382031.1_Missense_Mutation_p.R665S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	427	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	aaaaggagaggaaagagctca	0.403																																																	0													34	35	35					15																	43814952		1849	4090	5939	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1281G>T	15.37:g.43814952G>T	ENSP00000300231:p.Arg427Ser		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.R427S	ENST00000300231.5	37	c.1281	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	5.459	0.269850	0.10349	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.21031	2.03;2.03;2.03	5.4	2.26	0.28386	.	0.204930	0.24654	N	0.036700	T	0.20047	0.0482	L	0.60455	1.87	0.27659	N	0.947142	B	0.26744	0.158	B	0.23574	0.047	T	0.14448	-1.0472	10	0.66056	D	0.02	-11.5788	8.9037	0.35510	0.4052:0.0:0.5948:0.0	.	427	P78559	MAP1A_HUMAN	S	665;427;427;427	ENSP00000371462:R665S;ENSP00000382380:R427S;ENSP00000300231:R427S	ENSP00000300231:R427S	R	+	3	2	MAP1A	41602244	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.770000	0.26618	0.330000	0.23485	-0.156000	0.13503	AGG	MAP1A	-	NULL		0.403	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43814952	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.998	T	T	43814952	G	T	43814952	3	4	67	1	0	0	0	0	1	0	0	0	9250	1165	41	3	1283	3	MAP1A	15	43814952	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	2746477	43814952	58716440	80	10203			3	46		3	3	2783	G		5.867361e-05
MAP1A	4130	genome.wustl.edu	37	chr15	43815649	43815649	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tagaaaaggctgagttagaaGaaatggaggaggtacaccct	13	5	0	4			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr15:43815649G>C	ENST00000300231.5	+	4	2428	c.1978G>C	c.(1978-1980)Gaa>Caa	p.E660Q	MAP1A_ENST00000399453.1_Missense_Mutation_p.E660Q|MAP1A_ENST00000382031.1_Missense_Mutation_p.E898Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	660					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAGTTAGAAGAAATGGAGGA	0.478																																																	0													43	44	44					15																	43815649		1937	4122	6059	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1978G>C	15.37:g.43815649G>C	ENSP00000300231:p.Glu660Gln		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E660Q	ENST00000300231.5	37	c.1978	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891738	0.52014	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.57436	0.4;0.4;0.4	5.26	5.26	0.73747	.	0.000000	0.33023	N	0.005374	T	0.72581	0.3478	M	0.79475	2.455	0.58432	D	0.999993	D	0.76494	0.999	D	0.67548	0.952	T	0.70502	-0.4854	10	0.34782	T	0.22	-10.0411	19.0716	0.93140	0.0:0.0:1.0:0.0	.	660	P78559	MAP1A_HUMAN	Q	898;660;660	ENSP00000371462:E898Q;ENSP00000382380:E660Q;ENSP00000300231:E660Q	ENSP00000300231:E660Q	E	+	1	0	MAP1A	41602941	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.404000	0.79996	2.735000	0.93741	0.563000	0.77884	GAA	MAP1A	-	NULL		0.478	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43815649	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43815649	G	C	43815649	3	2	67	1	0	0	0	0	1	0	0	0	9250	943	33	1	1980	1	MAP1A	15	43815649	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	697	43815649	58715743	81	10204			3	46		3	3	2783	G		5.867361e-05
MAP1A	4130	genome.wustl.edu	37	chr15	43817734	43817734	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ggttgaaagacagaacctcaGaacagaagaaggaacctgag	12	7	1	7			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr15:43817734G>A	ENST00000300231.5	+	4	4513	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1355K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E1593K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1355					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGAACCTCAGAACAGAAGAA	0.483																																																	0													89	85	86					15																	43817734		1889	4118	6007	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4063G>A	15.37:g.43817734G>A	ENSP00000300231:p.Glu1355Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E1355K	ENST00000300231.5	37	c.4063	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145284	0.37825	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.64803	-0.12;-0.12;-0.12	4.89	4.89	0.63831	.	.	.	.	.	T	0.70850	0.3271	M	0.70595	2.14	0.58432	D	0.999997	D	0.55800	0.973	P	0.51657	0.676	T	0.69946	-0.5007	9	0.30854	T	0.27	-12.4285	17.8407	0.88714	0.0:0.0:1.0:0.0	.	1355	P78559	MAP1A_HUMAN	K	1593;1355;1355	ENSP00000371462:E1593K;ENSP00000382380:E1355K;ENSP00000300231:E1355K	ENSP00000300231:E1355K	E	+	1	0	MAP1A	41605026	0.857000	0.29778	0.672000	0.29872	0.119000	0.20118	1.517000	0.35867	2.553000	0.86117	0.563000	0.77884	GAA	MAP1A	-	NULL		0.483	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43817734	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.998	A	A	43817734	G	A	43817734	3	1	67	1	0	0	0	0	1	0	0	0	9250	943	33	1	4065	1	MAP1A	15	43817734	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	2085	43817734	58713658	82	10205			3	46		3	3	2783	G		5.867361e-05
MYO9A	4649	genome.wustl.edu	37	chr15	72119066	72119066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	agtttttcacattctttaatTtttgtttgcccttttccggg	6	8	2	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr15:72119066T>G	ENST00000356056.5	-	42	7974	c.7502A>C	c.(7501-7503)aAa>aCa	p.K2501T	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2572T|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2482T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2501	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTCTTTAATTTTTGTTTGCC	0.502																																																	0													156	161	159					15																	72119066		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7502A>C	15.37:g.72119066T>G	ENSP00000348349:p.Lys2501Thr		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.K2572T	ENST00000356056.5	37	c.7715	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739620	0.69304	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.88124	-2.33;-2.34;-2.32	5.2	5.2	0.72013	.	.	.	.	.	D	0.88753	0.6522	L	0.32530	0.975	0.42644	D	0.993421	D;D	0.76494	0.998;0.999	P;P	0.61658	0.863;0.892	D	0.90366	0.4377	9	0.72032	D	0.01	.	15.042	0.71799	0.0:0.0:0.0:1.0	.	2501;2265	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	T	2501;2572;2482	ENSP00000348349:K2501T;ENSP00000399162:K2572T;ENSP00000398250:K2482T	ENSP00000348349:K2501T	K	-	2	0	MYO9A	69906120	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.761000	0.68801	1.949000	0.56562	0.460000	0.39030	AAA	MYO9A	-	NULL		0.502	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	T	NM_006901		72119066	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72119066	T	G	72119066	3	3	67	1	0	0	0	0	1	0	0	0	10107	1841	64	5	148	5	MYO9A	15	72119066	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	28301332	72119066	30412326	83	10206										
PRR25	388199	genome.wustl.edu	37	chr16	863350	863350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctctgctattgctgcgggacCggcaaggacgccggaccgac	14	14	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr16:863350C>T	ENST00000301698.1	+	3	698	c.698C>T	c.(697-699)cCg>cTg	p.P233L		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	233										large_intestine(1)|lung(1)|skin(1)	3						GCTGCGGGACCGGCAAGGACG	0.716																																																	0													11	15	14					16																	863350		1994	4131	6125	SO:0001583	missense	388199			BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.698C>T	16.37:g.863350C>T	ENSP00000301698:p.Pro233Leu			Missense_Mutation	SNP	NULL	p.P233L	ENST00000301698.1	37	c.698	CCDS45372.1	16	.	.	.	.	.	.	.	.	.	.	C	0.417	-0.910190	0.02434	.	.	ENSG00000167945	ENST00000301698	T	0.41400	1.0	0.158	-0.317	0.12736	.	.	.	.	.	T	0.19005	0.0456	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	.	.	.	.	233	Q96S07	PRR25_HUMAN	L	233	ENSP00000301698:P233L	ENSP00000301698:P233L	P	+	2	0	PRR25	803351	0.008000	0.16893	0.004000	0.12327	0.004000	0.04260	-1.574000	0.02133	-1.029000	0.03317	-1.021000	0.02439	CCG	PRR25	-	NULL		0.716	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR25	HGNC	protein_coding	OTTHUMT00000440563.1	C	NM_001013638		863350	1	no_errors	ENST00000301698	ensembl	human	known	70_37	missense	SNP	0.005	T	T	863350	C	T	863350	3	4	67	1	0	0	0	0	1	0	0	0	12624	652	23	2	708	2	PRR25	16	863350	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09		863350	89491403	84	10207										
HS3ST2	9956	genome.wustl.edu	37	chr16	22926815	22926815	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctgaagtgatagaccagctcCgagaattttatagaccgtat	9	8	0	5			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr16:22926815C>T	ENST00000261374.3	+	2	1470	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	346					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGACCAGCTCCGAGAATTTTA	0.443																																																	0													128	144	138					16																	22926815		2197	4300	6497	SO:0001587	stop_gained	9956			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.1036C>T	16.37:g.22926815C>T	ENSP00000261374:p.Arg346*		Q52LZ1	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R346*	ENST00000261374.3	37	c.1036	CCDS10606.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.567708	0.98361	.	.	ENSG00000122254	ENST00000261374	.	.	.	5.2	3.12	0.35913	.	0.066107	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.938	0.35711	0.1471:0.775:0.0:0.0778	.	.	.	.	X	346	.	ENSP00000261374:R346X	R	+	1	2	HS3ST2	22834316	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	3.045000	0.49838	1.188000	0.43014	0.561000	0.74099	CGA	HS3ST2	-	pfam_Sulfotransferase_dom		0.443	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST2	HGNC	protein_coding	OTTHUMT00000211598.1	C	NM_006043		22926815	1	no_errors	ENST00000261374	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	22926815	C	T	22926815	4	4	67	1	0	0	0	0	0	1	0	0	7384	644	23	2	1042	2	HS3ST2	16	22926815	Nonsense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	22063465	22926815	67427938	85	10208										
SETD1A	9739	genome.wustl.edu	37	chr16	30982737	30982737	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	attcgtcttccaaatgttctCtgtatgctgactcagatggc	8	10	3	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr16:30982737C>T	ENST00000262519.8	+	13	3741	c.3055C>T	c.(3055-3057)Ctg>Ttg	p.L1019L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1019	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAAATGTTCTCTGTATGCTGA	0.567																																																	0													157	155	156					16																	30982737		2197	4300	6497	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3055C>T	16.37:g.30982737C>T			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.L1019	ENST00000262519.8	37	c.3055	CCDS32435.1	16																																																																																			SETD1A	-	NULL		0.567	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	C	NM_014712		30982737	1	no_errors	ENST00000262519	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30982737	C	T	30982737	2	4	67	1	0	0	0	0	0	0	0	1	14160	912	32	1		1	SETD1A	16	30982737	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	8055922	30982737	59372016	86	10209										
GPR114	221188	genome.wustl.edu	37	chr16	57608854	57608854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gcaggctgcgggagcgggcgGatgcaccaagtgtcagggcc	19	11	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr16:57608854G>A	ENST00000340339.4	+	11	1859	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.D446N	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	446					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGAGCGGGCGGATGCACCAAG	0.652																																																	0													73	57	63					16																	57608854		2198	4300	6498	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1336G>A	16.37:g.57608854G>A	ENSP00000342981:p.Asp446Asn		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.D446N	ENST00000340339.4	37	c.1336	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096945	0.20552	.	.	ENSG00000159618	ENST00000340339;ENST00000349457	T;T	0.42513	0.97;0.97	5.56	0.227	0.15359	GPCR, family 2-like (1);	1.013190	0.07902	N	0.972935	T	0.20455	0.0492	N	0.04880	-0.145	0.09310	N	1	B	0.33777	0.425	B	0.33121	0.158	T	0.18461	-1.0336	10	0.40728	T	0.16	.	5.2303	0.15418	0.3659:0.3485:0.2855:0.0	.	446	Q8IZF4	GP114_HUMAN	N	446	ENSP00000342981:D446N;ENSP00000290823:D446N	ENSP00000342981:D446N	D	+	1	0	GPR114	56166355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.409000	0.07160	-0.254000	0.09500	0.491000	0.48974	GAT	GPR114	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.652	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	G	NM_153837		57608854	1	no_errors	ENST00000340339	ensembl	human	known	70_37	missense	SNP	0.000	A	A	57608854	G	A	57608854	3	1	67	1	0	0	0	0	1	0	0	0	6650	1174	41	1	1374	1	GPR114	16	57608854	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	26626117	57608854	32745899	87	10210										
RFWD3	55159	genome.wustl.edu	37	chr16	74685965	74685965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgaatcataagtggtagctgGcaagtcaggctgggtcctgc	14	8	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr16:74685965G>T	ENST00000361070.4	-	3	671	c.574C>A	c.(574-576)Cca>Aca	p.P192T	RFWD3_ENST00000571750.1_Missense_Mutation_p.P192T	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	192					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GTGGTAGCTGGCAAGTCAGGC	0.448																																																	0													89	84	85					16																	74685965		2198	4300	6498	SO:0001583	missense	55159			AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.574C>A	16.37:g.74685965G>T	ENSP00000354361:p.Pro192Thr		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.P192T	ENST00000361070.4	37	c.574	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	G	8.948	0.967491	0.18659	.	.	ENSG00000168411	ENST00000361070	T	0.19806	2.12	5.93	-1.01	0.10169	.	0.729040	0.12670	N	0.448866	T	0.15565	0.0375	L	0.56769	1.78	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.28138	-1.0053	10	0.30078	T	0.28	-13.7056	2.0028	0.03471	0.2912:0.1238:0.4582:0.1268	.	192	Q6PCD5	RFWD3_HUMAN	T	192	ENSP00000354361:P192T	ENSP00000354361:P192T	P	-	1	0	RFWD3	73243466	0.000000	0.05858	0.000000	0.03702	0.447000	0.32167	-0.421000	0.07053	0.060000	0.16281	0.650000	0.86243	CCA	RFWD3	-	NULL		0.448	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	G	NM_018124		74685965	-1	no_errors	ENST00000361070	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74685965	G	T	74685965	3	4	67	1	0	0	0	0	1	0	0	0	13291	1203	42	4	1794	4	RFWD3	16	74685965	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	17077111	74685965	15668788	88	10211										
SEZ6	124925	genome.wustl.edu	37	chr17	27291100	27291100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gcgggcactaccccctgggtGgaggctggtgacagtcacat	15	12	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:27291100G>A	ENST00000317338.12	-	5	1548	c.1120C>T	c.(1120-1122)Cac>Tac	p.H374Y	SEZ6_ENST00000442608.3_Missense_Mutation_p.H374Y|SEZ6_ENST00000360295.9_Missense_Mutation_p.H374Y|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.H374Y			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	374	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCCCCTGGGTGGAGGCTGGTG	0.582																																																	0													35	36	36					17																	27291100		2004	4162	6166	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1120C>T	17.37:g.27291100G>A	ENSP00000312942:p.His374Tyr		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H374Y	ENST00000317338.12	37	c.1120	CCDS45639.1	17	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986330	0.93044	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.63913	-0.07;-0.07;-0.07	5.59	5.59	0.84812	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.80764	0.994;0.986;0.982	T	0.79797	-0.1652	10	0.87932	D	0	.	17.0771	0.86589	0.0:0.0:1.0:0.0	.	374;374;374	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	Y	374;374;249;374;374	ENSP00000403784:H374Y;ENSP00000353440:H374Y;ENSP00000337407:H374Y	ENSP00000312942:H249Y	H	-	1	0	SEZ6	24315226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.431000	0.97494	2.625000	0.88918	0.561000	0.74099	CAC	SEZ6	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	G			27291100	-1	no_errors	ENST00000317338	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27291100	G	A	27291100	3	1	67	1	0	0	0	0	1	0	0	0	14172	1348	47	4	1929	4	SEZ6	17	27291100	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		27291100	53904110	89	10212										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40843185	40843185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctacagcttttggattggccGaaatgaggagcagcacttct	11	9	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:40843185G>A	ENST00000264638.4	+	14	2307	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	697	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGATTGGCCGAAATGAGGAG	0.627																																																	0													63	63	63					17																	40843185		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2090G>A	17.37:g.40843185G>A	ENSP00000264638:p.Arg697Gln			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R697Q	ENST00000264638.4	37	c.2090	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.658584	0.96734	.	.	ENSG00000108797	ENST00000264638	T	0.12039	2.72	5.6	5.6	0.85130	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.56097	D	0.000022	T	0.19644	0.0472	M	0.76170	2.325	0.52099	D	0.999942	P	0.38863	0.65	B	0.29942	0.109	T	0.04153	-1.0973	10	0.62326	D	0.03	.	19.6023	0.95568	0.0:0.0:1.0:0.0	.	697	P78357	CNTP1_HUMAN	Q	697	ENSP00000264638:R697Q	ENSP00000264638:R697Q	R	+	2	0	CNTNAP1	38096711	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	7.513000	0.81739	2.653000	0.90120	0.561000	0.74099	CGA	CNTNAP1	-	NULL		0.627	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40843185	1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40843185	G	A	40843185	3	1	67	1	0	0	0	0	1	0	0	0	3651	1058	37	1	2144	1	CNTNAP1	17	40843185	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	13552085	40843185	40352025	90	10213										
MTMR4	9110	genome.wustl.edu	37	chr17	56572621	56572621	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aatgactagaacagacaggtGacttcacaccttctctctga	7	11	3	5	rs376612881		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:56572621G>A	ENST00000323456.5	-	16	3006	c.2882C>T	c.(2881-2883)tCa>tTa	p.S961L	MTMR4_ENST00000579925.1_Missense_Mutation_p.S904L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	961					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGACAGGTGACTTCACACC	0.522																																																	0								G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	108	110	109		2882	5.7	1	17		109	0,8600		0,0,4300	no	missense	MTMR4	NM_004687.4	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	961/1196	56572621	1,13005	2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2882C>T	17.37:g.56572621G>A	ENSP00000325285:p.Ser961Leu		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.S961L	ENST00000323456.5	37	c.2882	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562589	0.45694	2.27E-4	0.0	ENSG00000108389	ENST00000323456	D	0.93019	-3.15	5.68	5.68	0.88126	.	0.564454	0.16432	N	0.214678	D	0.88548	0.6466	L	0.36672	1.1	0.26198	N	0.979484	P	0.38922	0.651	B	0.36030	0.216	T	0.83111	-0.0123	10	0.48119	T	0.1	.	9.4602	0.38781	0.0762:0.1446:0.7791:0.0	.	961	Q9NYA4	MTMR4_HUMAN	L	961	ENSP00000325285:S961L	ENSP00000325285:S961L	S	-	2	0	MTMR4	53927620	0.998000	0.40836	1.000000	0.80357	0.929000	0.56500	2.943000	0.49026	2.674000	0.91012	0.555000	0.69702	TCA	MTMR4	-	NULL		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	G	NM_004687		56572621	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56572621	G	A	56572621	3	1	67	1	0	0	0	0	1	0	0	0	9969	1294	45	1	721	1	MTMR4	17	56572621	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	15729436	56572621	24622589	91	10214										
GDPD1	284161	genome.wustl.edu	37	chr17	57322867	57322867	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	acatgatgagaatctaaagaGagcaactggggtcaatgtaa	11	5	2	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:57322867G>A	ENST00000284116.4	+	3	415	c.278G>A	c.(277-279)aGa>aAa	p.R93K	GDPD1_ENST00000581276.1_Missense_Mutation_p.R93K|GDPD1_ENST00000581140.1_Missense_Mutation_p.R93K	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	93	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AATCTAAAGAGAGCAACTGGG	0.358																																																	0													97	83	88					17																	57322867		2203	4300	6503	SO:0001583	missense	284161			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.278G>A	17.37:g.57322867G>A	ENSP00000284116:p.Arg93Lys		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.R93K	ENST00000284116.4	37	c.278	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259842	0.59321	.	.	ENSG00000153982	ENST00000284116	T	0.19394	2.15	5.41	5.41	0.78517	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.91972	3.26	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.67051	-0.5768	10	0.87932	D	0	.	17.8214	0.88651	0.0:0.0:1.0:0.0	.	93;93	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	K	93	ENSP00000284116:R93K	ENSP00000284116:R93K	R	+	2	0	GDPD1	54677649	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.153000	0.89640	2.552000	0.86080	0.485000	0.47835	AGA	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl		0.358	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	G	NM_182569		57322867	1	no_errors	ENST00000284116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57322867	G	A	57322867	3	1	67	1	0	0	0	0	1	0	0	0	6342	942	33	1	288	1	GDPD1	17	57322867	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	750246	57322867	23872343	92	10215										
DDX5	1655	genome.wustl.edu	37	chr17	62496426	62496426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gacggtcatccttcatgcctCctctacccctggaacgacct	7	17	3	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:62496426C>T	ENST00000225792.5	-	13	1861	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.G408E|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.G487E|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	487	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTCATGCCTCCTCTACCCCT	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													72	73	73					17																	62496426		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1460G>A	17.37:g.62496426C>T	ENSP00000225792:p.Gly487Glu		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G487E	ENST00000225792.5	37	c.1460	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048760	0.19827	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.105298	0.64402	D	0.000005	T	0.57888	0.2084	M	0.80616	2.505	0.80722	D	1	P;B;B	0.43477	0.808;0.001;0.001	B;B;B	0.33690	0.168;0.0;0.0	T	0.64753	-0.6333	9	0.39692	T	0.17	-16.5493	17.1403	0.86752	0.0:1.0:0.0:0.0	.	408;487;487	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	E	487;417;476	.	ENSP00000225792:G476E	G	-	2	0	DDX5	59926888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.504000	0.60414	2.712000	0.92718	0.591000	0.81541	GGA	DDX5	-	NULL		0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62496426	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62496426	C	T	62496426	3	4	67	1	0	0	0	0	1	0	0	0	4372	855	30	1	388	1	DDX5	17	62496426	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	5173559	62496426	18698784	93	10216										
SDK2	54549	genome.wustl.edu	37	chr17	71420166	71420166	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	agatgtgcagggagccgtttCtgtccaggcggatacgagga	16	8	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:71420166C>T	ENST00000392650.3	-	13	1649	c.1649G>A	c.(1648-1650)aGa>aAa	p.R550K	SDK2_ENST00000388726.3_Missense_Mutation_p.R550K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	550	Ig-like C2-type 6.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGAGCCGTTTCTGTCCAGGCG	0.597																																																	0													51	40	43					17																	71420166		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1649G>A	17.37:g.71420166C>T	ENSP00000376421:p.Arg550Lys		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R550K	ENST00000392650.3	37	c.1649	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	3.303	-0.142532	0.06669	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.65916	-0.18;-0.18	5.55	-2.13	0.07144	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.583463	0.18651	N	0.134984	T	0.24509	0.0594	N	0.00815	-1.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30909	-0.9962	10	0.07644	T	0.81	.	13.0033	0.58690	0.0:0.5393:0.0:0.4607	.	550;550	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	K	174;550;550;550	ENSP00000376421:R550K;ENSP00000373378:R550K	ENSP00000324967:R550K	R	-	2	0	SDK2	68931761	0.000000	0.05858	0.050000	0.19076	0.884000	0.51177	0.247000	0.18179	-0.759000	0.04684	-0.302000	0.09304	AGA	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.597	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	C	NM_019064		71420166	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	0.013	T	T	71420166	C	T	71420166	3	4	67	1	0	0	0	0	1	0	0	0	13999	913	32	1	5001	1	SDK2	17	71420166	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	8923740	71420166	9775044	94	10217										
CCDC137	339230	genome.wustl.edu	37	chr17	79634867	79634867	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	caagagatgaaaaacccgatCagtaacaagaagaggaagaa	10	6	1	5	rs574701572	byFrequency	TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr17:79634867C>T	ENST00000329214.8	+	2	646	c.243C>T	c.(241-243)atC>atT	p.I81I	OXLD1_ENST00000374741.3_5'Flank|OXLD1_ENST00000571503.1_5'Flank|OXLD1_ENST00000573786.1_5'Flank	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	81							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAAACCCGATCAGTAACAAGA	0.517																																																	0													28	31	31					17																	79634867		1932	4122	6054	SO:0001819	synonymous_variant	339230			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.243C>T	17.37:g.79634867C>T				Silent	SNP	NULL	p.I81	ENST00000329214.8	37	c.243	CCDS42400.1	17																																																																																			CCDC137	-	NULL		0.517	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC137	HGNC	protein_coding	OTTHUMT00000440387.1	C			79634867	1	no_errors	ENST00000329214	ensembl	human	known	70_37	silent	SNP	0.742	T	T	79634867	C	T	79634867	2	4	67	1	0	0	0	0	0	0	0	1	2776	816	29	1		1	CCDC137	17	79634867	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	8214701	79634867	1560343	95	10218										
ANKRD12	23253	genome.wustl.edu	37	chr18	9255339	9255339	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgcagaggagtgtggaatttGatagagaattttggaaagag	15	1	0	4			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255339G>C	ENST00000262126.4	+	9	2314	c.2074G>C	c.(2074-2076)Gat>Cat	p.D692H	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D669H|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D669H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	692						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						tgtggaatttgatagagaatt	0.289																																																	0													47	53	51					18																	9255339		2160	4207	6367	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2074G>C	18.37:g.9255339G>C	ENSP00000262126:p.Asp692His		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D692H	ENST00000262126.4	37	c.2074	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756661	0.49362	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92858	-3.12;-3.12	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.95642	0.8583	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	D	0.96014	0.9004	10	0.87932	D	0	-3.7109	18.7884	0.91964	0.0:0.0:1.0:0.0	.	319;669;692	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	H	669;692;399	ENSP00000372932:D669H;ENSP00000262126:D692H	ENSP00000262126:D692H	D	+	1	0	ANKRD12	9245339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.505000	0.84491	0.460000	0.39030	GAT	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255339	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255339	G	C	9255339	3	2	67	1	0	0	0	0	1	0	0	0	640	1290	45	1	2104	1	ANKRD12	18	9255339	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		9255339	68821909	96	10219			4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255384	9255384	+	Missense_Mutation	SNP	G	G	A													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tttttaaaagtgatgaaactGaagatctctttttaaatatg							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255384G>A	ENST00000262126.4	+	9	2359	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E684K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E684K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	707						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						tgatgaaaCTGAAGATCTCTT	0.289																																																	0													38	41	40					18																	9255384		2106	4175	6281	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2119G>A	18.37:g.9255384G>A	ENSP00000262126:p.Glu707Lys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E707K	ENST00000262126.4	37	c.2119	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439862	0.63067	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92699	-3.09;-3.09	5.06	5.06	0.68205	.	0.171355	0.50627	D	0.000112	D	0.93795	0.8016	L	0.60455	1.87	0.50813	D	0.999894	D;P;P	0.55605	0.972;0.925;0.799	P;P;B	0.53912	0.737;0.54;0.318	D	0.94383	0.7606	10	0.72032	D	0.01	-23.4943	18.7884	0.91964	0.0:0.0:1.0:0.0	.	334;684;707	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	K	684;707;414;2	ENSP00000372932:E684K;ENSP00000262126:E707K	ENSP00000262126:E707K	E	+	1	0	ANKRD12	9245384	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.547000	0.82146	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255384	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9255384	G	A	9255384	3	1	67	1	0	0	0	0	1	0	0	0	640	1291	45	1	2149	1	ANKRD12	18	9255384	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	45	9255384	68821864	97	10220	56	3	4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255387	9255387	+	Missense_Mutation	SNP	G	G	A													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ttaaaagtgatgaaactgaaGatctctttttaaatatggaa							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255387G>A	ENST00000262126.4	+	9	2362	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D685N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D685N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	708						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						tgaaaCTGAAGATCTCTTTTT	0.284																																																	0													38	40	40					18																	9255387		2113	4179	6292	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2122G>A	18.37:g.9255387G>A	ENSP00000262126:p.Asp708Asn		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D708N	ENST00000262126.4	37	c.2122	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693592	0.68386	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.91894	-2.93;-2.93	5.06	5.06	0.68205	.	0.052266	0.85682	D	0.000000	D	0.95046	0.8396	L	0.57536	1.79	0.53688	D	0.999977	D;D;D	0.76494	0.999;0.999;0.976	D;D;P	0.69479	0.964;0.913;0.631	D	0.95158	0.8279	10	0.59425	D	0.04	-18.8594	18.7884	0.91964	0.0:0.0:1.0:0.0	.	335;685;708	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	N	685;708;415;3	ENSP00000372932:D685N;ENSP00000262126:D708N	ENSP00000262126:D708N	D	+	1	0	ANKRD12	9245387	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.420000	0.97426	2.505000	0.84491	0.460000	0.39030	GAT	ANKRD12	-	NULL		0.284	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255387	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9255387	G	A	9255387	3	1	67	1	0	0	0	0	1	0	0	0	640	942	33	1	2152	1	ANKRD12	18	9255387	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	3	9255387	68821861	98	10221	56	3	4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255389	9255389	+	Missense_Mutation	SNP	T	T	A													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aaaagtgatgaaactgaagaTctctttttaaatatggaaca							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255389T>A	ENST00000262126.4	+	9	2364	c.2124T>A	c.(2122-2124)gaT>gaA	p.D708E	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D685E|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D685E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	708						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaaCTGAAGATCTCTTTTTAA	0.289																																																	0													37	40	39					18																	9255389		2113	4185	6298	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2124T>A	18.37:g.9255389T>A	ENSP00000262126:p.Asp708Glu		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D708E	ENST00000262126.4	37	c.2124	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846277	0.32606	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92299	-3.01;-3.01	5.06	2.7	0.31948	.	0.052266	0.85682	D	0.000000	D	0.83161	0.5194	N	0.25647	0.755	0.32362	N	0.557056	P;P;B	0.46784	0.884;0.565;0.214	B;B;B	0.43155	0.41;0.168;0.031	T	0.79694	-0.1696	10	0.11794	T	0.64	-18.8594	5.1949	0.15232	0.0:0.2273:0.1409:0.6318	.	335;685;708	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	E	685;708;415;3	ENSP00000372932:D685E;ENSP00000262126:D708E	ENSP00000262126:D708E	D	+	3	2	ANKRD12	9245389	0.003000	0.15002	0.980000	0.43619	0.919000	0.55068	0.034000	0.13776	0.374000	0.24650	0.377000	0.23210	GAT	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	T	NM_015208		9255389	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	0.918	A	A	9255389	T	A	9255389	3	1	67	1	0	0	0	0	1	0	0	0	640	1432	50	5	2154	5	ANKRD12	18	9255389	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	2	9255389	68821859	99	10222	56	3	4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255426	9255426	+	Missense_Mutation	SNP	G	G	C													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aacatgaatccttaacattaGaaaaaaaatcaaaattggaa							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255426G>C	ENST00000262126.4	+	9	2401	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E698Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E698Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTAACATTAGAAAAAAAATC	0.289																																																	0													28	30	29					18																	9255426		2143	4226	6369	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2161G>C	18.37:g.9255426G>C	ENSP00000262126:p.Glu721Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E721Q	ENST00000262126.4	37	c.2161	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253554	0.39797	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92397	-3.03;-3.03	5.06	5.06	0.68205	.	0.331509	0.30528	N	0.009436	D	0.94640	0.8272	L	0.57536	1.79	0.36889	D	0.889782	D;D;P	0.76494	0.999;0.996;0.935	D;P;P	0.65443	0.935;0.892;0.575	D	0.94400	0.7622	10	0.29301	T	0.29	-14.4551	18.7884	0.91964	0.0:0.0:1.0:0.0	.	348;698;721	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	698;721;428;16	ENSP00000372932:E698Q;ENSP00000262126:E721Q	ENSP00000262126:E721Q	E	+	1	0	ANKRD12	9245426	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	5.303000	0.65738	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255426	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255426	G	C	9255426	3	2	67	1	0	0	0	0	1	0	0	0	640	943	33	1	2191	1	ANKRD12	18	9255426	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	37	9255426	68821822	100	10223	57	2	4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255435	9255435	+	Missense_Mutation	SNP	T	T	A													0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ccttaacattagaaaaaaaaTcaaaattggaaaaaaacatc							TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255435T>A	ENST00000262126.4	+	9	2410	c.2170T>A	c.(2170-2172)Tca>Aca	p.S724T	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S701T|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S701T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	724						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAAAAAAATCAAAATTGGA	0.274																																																	0													28	30	29					18																	9255435		2152	4241	6393	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2170T>A	18.37:g.9255435T>A	ENSP00000262126:p.Ser724Thr		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S724T	ENST00000262126.4	37	c.2170	CCDS11843.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.031|3.031	-0.199599|-0.199599	0.06219|0.06219	.|.	.|.	ENSG00000101745|ENSG00000101745	ENST00000359158|ENST00000383440;ENST00000262126;ENST00000400020	.|D;D;T	.|0.91843	.|-2.92;-2.92;-0.08	5.06|5.06	2.51|2.51	0.30379|0.30379	.|.	.|0.574633	.|0.16867	.|N	.|0.196291	D|D	0.84479|0.84479	0.5481|0.5481	L|L	0.27053|0.27053	0.805|0.805	0.20196|0.20196	N|N	0.999922|0.999922	.|B;B;B	.|0.15473	.|0.013;0.001;0.001	.|B;B;B	.|0.12156	.|0.007;0.003;0.002	T|T	0.73480|0.73480	-0.3969|-0.3969	6|10	0.59425|0.49607	D|T	0.04|0.09	-24.2216|-24.2216	6.6701|6.6701	0.23064|0.23064	0.2677:0.0:0.1395:0.5928|0.2677:0.0:0.1395:0.5928	.|.	.|351;701;724	.|Q9NXU3;Q6UB98-2;Q6UB98	.|.;.;ANR12_HUMAN	N|T	430|701;724;19	.|ENSP00000372932:S701T;ENSP00000262126:S724T;ENSP00000382897:S19T	ENSP00000352073:I430N|ENSP00000262126:S724T	I|S	+|+	2|1	0|0	ANKRD12|ANKRD12	9245435|9245435	0.997000|0.997000	0.39634|0.39634	0.495000|0.495000	0.27527|0.27527	0.861000|0.861000	0.49209|0.49209	1.085000|1.085000	0.30840|0.30840	0.288000|0.288000	0.22398|0.22398	0.377000|0.377000	0.23210|0.23210	ATC|TCA	ANKRD12	-	NULL		0.274	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	T	NM_015208		9255435	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	0.374	A	A	9255435	T	A	9255435	3	1	67	1	0	0	0	0	1	0	0	0	640	1435	50	5	2200	5	ANKRD12	18	9255435	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	9	9255435	68821813	101	10224	57	2	4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255588	9255588	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aagatctaaaagaagagagaGaaaacatacccacagataaa	7	6	1	5			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255588G>C	ENST00000262126.4	+	9	2563	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E752Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E752Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	775						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAGAGAGAGAAAACATACC	0.348																																																	0													73	77	76					18																	9255588		2200	4292	6492	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2323G>C	18.37:g.9255588G>C	ENSP00000262126:p.Glu775Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E775Q	ENST00000262126.4	37	c.2323	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935232	0.52866	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.51071	0.72;0.72	5.0	4.12	0.48240	.	0.291905	0.37348	N	0.002129	T	0.52386	0.1731	L	0.47716	1.5	0.41630	D	0.989013	D;P;P	0.53619	0.961;0.93;0.886	P;P;B	0.52159	0.691;0.603;0.398	T	0.57831	-0.7743	10	0.72032	D	0.01	-2.5601	13.8581	0.63542	0.0749:0.0:0.9251:0.0	.	402;752;775	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	752;775	ENSP00000372932:E752Q;ENSP00000262126:E775Q	ENSP00000262126:E775Q	E	+	1	0	ANKRD12	9245588	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	5.995000	0.70631	1.226000	0.43582	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255588	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255588	G	C	9255588	3	2	67	1	0	0	0	0	1	0	0	0	640	943	33	1	2353	1	ANKRD12	18	9255588	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	153	9255588	68821660	102	10225			4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255690	9255690	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tggaaaaggaaatagacattGaaaaacaagaaaagcatata	8	3	0	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255690G>T	ENST00000262126.4	+	9	2665	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E786*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E786*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	809						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATAGACATTGAAAAACAAGA	0.333																																																	0													57	60	59					18																	9255690		2191	4292	6483	SO:0001587	stop_gained	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2425G>T	18.37:g.9255690G>T	ENSP00000262126:p.Glu809*		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E809*	ENST00000262126.4	37	c.2425	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.742754	0.97805	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000400020	.	.	.	4.65	4.65	0.58169	.	0.051277	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-21.9558	17.868	0.88801	0.0:0.0:1.0:0.0	.	.	.	.	X	786;809;80	.	ENSP00000262126:E809X	E	+	1	0	ANKRD12	9245690	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	4.858000	0.62947	2.291000	0.77112	0.557000	0.71058	GAA	ANKRD12	-	NULL		0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255690	1	no_errors	ENST00000262126	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	9255690	G	T	9255690	4	4	67	1	0	0	0	0	0	1	0	0	640	1291	45	3	2455	3	ANKRD12	18	9255690	Nonsense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	102	9255690	68821558	103	10226			4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255795	9255795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aaagaaaaacctttgaaaaaGaaaagaagataaaacatgag	7	3	0	6			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255795G>A	ENST00000262126.4	+	9	2770	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E821K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E821K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	844						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTTGAAAAAGAAAAGAAGAT	0.294																																																	0													25	27	27					18																	9255795		2195	4279	6474	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2530G>A	18.37:g.9255795G>A	ENSP00000262126:p.Glu844Lys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E844K	ENST00000262126.4	37	c.2530	CCDS11843.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.179474|3.179474	0.57800|0.57800	.|.	.|.	ENSG00000101745|ENSG00000101745	ENST00000383440;ENST00000262126|ENST00000400020	T;T|.	0.67523|.	-0.27;-0.27|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.050461|.	0.85682|.	D|.	0.000000|.	T|T	0.75598|0.75598	0.3871|0.3871	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	D;P|.	0.80764|.	0.994;0.837|.	T|T	0.77376|0.77376	-0.2611|-0.2611	10|6	0.48119|0.87932	T|D	0.1|0	-17.4659|-17.4659	19.1125|19.1125	0.93323|0.93323	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	821;844|.	Q6UB98-2;Q6UB98|.	.;ANR12_HUMAN|.	K|R	821;844|115	ENSP00000372932:E821K;ENSP00000262126:E844K|.	ENSP00000262126:E844K|ENSP00000382897:G115R	E|G	+|+	1|1	0|0	ANKRD12|ANKRD12	9245795|9245795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.492000|0.492000	0.33523|0.33523	9.476000|9.476000	0.97823|0.97823	2.606000|2.606000	0.88127|0.88127	0.557000|0.557000	0.71058|0.71058	GAA|GGG	ANKRD12	-	NULL		0.294	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255795	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9255795	G	A	9255795	3	1	67	1	0	0	0	0	1	0	0	0	640	943	33	1	2560	1	ANKRD12	18	9255795	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	105	9255795	68821453	104	10227			4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255813	9255813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aagaaaagaagataaaacatGagcataagtcagaaaaagac	8	4	1	6			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255813G>A	ENST00000262126.4	+	9	2788	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E827K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E827K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	850						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GATAAAACATGAGCATAAGTC	0.303																																																	0													28	30	29					18																	9255813		2196	4287	6483	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2548G>A	18.37:g.9255813G>A	ENSP00000262126:p.Glu850Lys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E850K	ENST00000262126.4	37	c.2548	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615624	0.46631	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.65732	-0.17;-0.17	5.55	5.55	0.83447	.	0.264472	0.41001	D	0.000973	T	0.61388	0.2343	L	0.55481	1.735	0.80722	D	1	P;P	0.39665	0.592;0.682	B;B	0.37601	0.254;0.172	T	0.65961	-0.6041	10	0.62326	D	0.03	-30.9609	19.1125	0.93323	0.0:0.0:1.0:0.0	.	827;850	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	827;850	ENSP00000372932:E827K;ENSP00000262126:E850K	ENSP00000262126:E850K	E	+	1	0	ANKRD12	9245813	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.476000	0.97823	2.606000	0.88127	0.557000	0.71058	GAG	ANKRD12	-	NULL		0.303	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255813	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9255813	G	A	9255813	3	1	67	1	0	0	0	0	1	0	0	0	640	1291	45	1	2578	1	ANKRD12	18	9255813	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	18	9255813	68821435	105	10228			4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255831	9255831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atgagcataagtcagaaaaaGacaaattagatcttagtgaa	8	4	2	5			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255831G>C	ENST00000262126.4	+	9	2806	c.2566G>C	c.(2566-2568)Gac>Cac	p.D856H	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D833H|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D833H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	856						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTCAGAAAAAGACAAATTAGA	0.313																																																	0													29	30	30					18																	9255831		2199	4290	6489	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2566G>C	18.37:g.9255831G>C	ENSP00000262126:p.Asp856His		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D856H	ENST00000262126.4	37	c.2566	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682086	0.68042	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67345	-0.26;-0.26	5.28	5.28	0.74379	.	0.198270	0.52532	D	0.000073	T	0.77778	0.4181	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.71674	0.998;0.996	D;P	0.65874	0.939;0.871	T	0.79443	-0.1801	10	0.66056	D	0.02	-10.814	18.5316	0.90995	0.0:0.0:1.0:0.0	.	833;856	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	H	833;856	ENSP00000372932:D833H;ENSP00000262126:D856H	ENSP00000262126:D856H	D	+	1	0	ANKRD12	9245831	1.000000	0.71417	0.980000	0.43619	0.940000	0.58332	3.547000	0.53663	2.456000	0.83038	0.557000	0.71058	GAC	ANKRD12	-	NULL		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255831	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255831	G	C	9255831	3	2	67	1	0	0	0	0	1	0	0	0	640	942	33	1	2596	1	ANKRD12	18	9255831	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	18	9255831	68821417	106	10229			4	47		12	9	583	N	T_G	1.691416e-26
ANKRD12	23253	genome.wustl.edu	37	chr18	9255921	9255921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aaaaatgccataaagaaggtGagaagagcaaaaatactgct	9	5	0	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:9255921G>C	ENST00000262126.4	+	9	2896	c.2656G>C	c.(2656-2658)Gag>Cag	p.E886Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E863Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E863Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	886						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAAAGAAGGTGAGAAGAGCAA	0.328																																																	0													43	44	44					18																	9255921		2198	4295	6493	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2656G>C	18.37:g.9255921G>C	ENSP00000262126:p.Glu886Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E886Q	ENST00000262126.4	37	c.2656	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630061	0.67015	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.66995	-0.23;-0.24	5.55	5.55	0.83447	.	0.154856	0.56097	D	0.000022	T	0.75004	0.3791	L	0.56769	1.78	0.58432	D	0.999998	D;D	0.57571	0.98;0.966	P;P	0.53649	0.731;0.543	T	0.75144	-0.3421	10	0.48119	T	0.1	-12.2174	19.5021	0.95100	0.0:0.0:1.0:0.0	.	863;886	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Q	863;886	ENSP00000372932:E863Q;ENSP00000262126:E886Q	ENSP00000262126:E886Q	E	+	1	0	ANKRD12	9245921	1.000000	0.71417	0.955000	0.39395	0.903000	0.53119	9.476000	0.97823	2.606000	0.88127	0.557000	0.71058	GAG	ANKRD12	-	NULL		0.328	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255921	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9255921	G	C	9255921	3	2	67	1	0	0	0	0	1	0	0	0	640	1291	45	1	2686	1	ANKRD12	18	9255921	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	90	9255921	68821327	107	10230			4	47		12	9	583	N	T_G	1.691416e-26
ALPK2	115701	genome.wustl.edu	37	chr18	56202143	56202143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ataatgatgtttcgagtttgGgcatctttttaagaaaggct	10	4	1	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr18:56202143G>T	ENST00000361673.3	-	5	5489	c.5276C>A	c.(5275-5277)cCc>cAc	p.P1759H	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1759						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCGAGTTTGGGCATCTTTTT	0.413																																																	0													189	179	182					18																	56202143		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5276C>A	18.37:g.56202143G>T	ENSP00000354991:p.Pro1759His		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.P1759H	ENST00000361673.3	37	c.5276	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133413	0.37630	.	.	ENSG00000198796	ENST00000361673	T	0.58060	0.36	5.4	5.4	0.78164	.	0.238004	0.37219	N	0.002199	T	0.68109	0.2965	L	0.55990	1.75	0.28608	N	0.908833	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.948	T	0.65125	-0.6244	10	0.72032	D	0.01	-16.5299	16.0898	0.81084	0.0:0.0:1.0:0.0	.	1754;1759	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	H	1759	ENSP00000354991:P1759H	ENSP00000354991:P1759H	P	-	2	0	ALPK2	54353123	0.161000	0.22892	0.336000	0.25522	0.022000	0.10575	1.803000	0.38863	2.519000	0.84933	0.561000	0.74099	CCC	ALPK2	-	NULL		0.413	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56202143	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.611	T	T	56202143	G	T	56202143	3	4	67	1	0	0	0	0	1	0	0	0	545	1232	43	4	1272	4	ALPK2	18	56202143	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	46946222	56202143	21875105	108	10231										
ZSWIM4	65249	genome.wustl.edu	37	chr19	13928068	13928068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ccacctgcatcaccaacaccGaaggatgggtggggcacccc	11	16	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:13928068G>A	ENST00000254323.2	+	7	1408	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E241K	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	407							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CACCAACACCGAAGGATGGGT	0.632																																																	0													74	73	73					19																	13928068		2203	4300	6503	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1219G>A	19.37:g.13928068G>A	ENSP00000254323:p.Glu407Lys			Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E407K	ENST00000254323.2	37	c.1219	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.282923	0.95489	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48201	0.82;0.84	4.79	4.79	0.61399	.	0.198962	0.32357	N	0.006212	T	0.61664	0.2365	L	0.60455	1.87	0.51767	D	0.999934	P;D	0.69078	0.681;0.997	B;P	0.61397	0.155;0.888	T	0.63972	-0.6516	10	0.52906	T	0.07	-2.0711	15.3128	0.74048	0.0:0.0:1.0:0.0	.	241;407	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	K	407;241	ENSP00000254323:E407K;ENSP00000405278:E241K	ENSP00000254323:E407K	E	+	1	0	ZSWIM4	13789068	1.000000	0.71417	0.877000	0.34402	0.830000	0.47004	9.483000	0.97937	2.215000	0.71742	0.400000	0.26472	GAA	ZSWIM4	-	NULL		0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	G	XM_031342		13928068	1	no_errors	ENST00000254323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13928068	G	A	13928068	3	1	67	1	0	0	0	0	1	0	0	0	18273	1059	37	1	1245	1	ZSWIM4	19	13928068	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		13928068	45200915	109	10232										
ZNF829	374899	genome.wustl.edu	37	chr19	37382909	37382909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atagggtttctcaccagtgtGaattctctgatgatcattaa	8	7	3	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:37382909G>A	ENST00000391711.3	-	6	1148	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	ZNF829_ENST00000520965.1_Missense_Mutation_p.H343Y|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACCAGTGTGAATTCTCTGA	0.368																																																	0													45	48	47					19																	37382909		2200	4300	6500	SO:0001583	missense	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.784C>T	19.37:g.37382909G>A	ENSP00000429266:p.His262Tyr		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H343Y	ENST00000391711.3	37	c.1027	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843769	0.71488	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.67523	-0.27	3.41	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85906	0.5806	H	0.95402	3.665	0.37171	D	0.903033	D	0.76494	0.999	D	0.70016	0.967	D	0.91930	0.5554	9	0.87932	D	0	.	14.7529	0.69540	0.0:0.0:1.0:0.0	.	262	Q3KNS6	ZN829_HUMAN	Y	262	ENSP00000429266:H262Y	ENSP00000429266:H262Y	H	-	1	0	ZNF829	42074749	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.829000	0.75314	2.199000	0.70637	0.650000	0.86243	CAC	ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37382909	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37382909	G	A	37382909	3	1	67	1	0	0	0	0	1	0	0	0	18212	1290	45	1	518	1	ZNF829	19	37382909	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	23454841	37382909	21746074	110	10233										
TRPM4	54795	genome.wustl.edu	37	chr19	49714020	49714020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	tgctaacgtgggaatcggtgCataaggagaactttctgctg	13	7	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:49714020C>T	ENST00000252826.5	+	22	3508	c.3382C>T	c.(3382-3384)Cat>Tat	p.H1128Y	TRPM4_ENST00000427978.2_Missense_Mutation_p.H983Y|TRPM4_ENST00000355712.5_Missense_Mutation_p.H774Y	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1128	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGAATCGGTGCATAAGGAGAA	0.632																																																	0													36	41	40					19																	49714020		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3382C>T	19.37:g.49714020C>T	ENSP00000252826:p.His1128Tyr		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.H1128Y	ENST00000252826.5	37	c.3382	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734016	0.48939	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.47177	0.85;0.85;0.85	4.57	4.57	0.56435	.	0.308103	0.31685	N	0.007225	T	0.35451	0.0932	N	0.22421	0.69	0.46542	D	0.999096	P;P;P;B	0.34909	0.475;0.467;0.467;0.229	B;B;B;B	0.31686	0.063;0.134;0.086;0.043	T	0.38779	-0.9645	10	0.62326	D	0.03	-9.6008	16.6395	0.85068	0.0:1.0:0.0:0.0	.	774;954;983;1128	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	Y	1128;983;774	ENSP00000252826:H1128Y;ENSP00000407492:H983Y;ENSP00000347944:H774Y	ENSP00000252826:H1128Y	H	+	1	0	TRPM4	54405832	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	3.908000	0.56355	2.532000	0.85374	0.561000	0.74099	CAT	TRPM4	-	NULL		0.632	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49714020	1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49714020	C	T	49714020	3	4	67	1	0	0	0	0	1	0	0	0	16619	710	25	4	3468	4	TRPM4	19	49714020	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	12331111	49714020	9414963	111	10234										
FCGRT	2217	genome.wustl.edu	37	chr19	50028011	50028011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gtgcagcacgcggggctggcGcagcccctcagggtggagct	18	13	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:50028011G>A	ENST00000221466.5	+	5	1335	c.849G>A	c.(847-849)gcG>gcA	p.A283A	FCGRT_ENST00000426395.3_Silent_p.A283A|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000596975.1_Silent_p.A191A|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	283	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CGGGGCTGGCGCAGCCCCTCA	0.627																																																	0													33	29	31					19																	50028011		2203	4300	6503	SO:0001819	synonymous_variant	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.849G>A	19.37:g.50028011G>A			Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.A283	ENST00000221466.5	37	c.849	CCDS12770.1	19																																																																																			FCGRT	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.627	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	G			50028011	1	no_errors	ENST00000221466	ensembl	human	known	70_37	silent	SNP	0.110	A	A	50028011	G	A	50028011	2	1	67	1	0	0	0	0	0	0	0	1	5804	1074	38	2		2	FCGRT	19	50028011	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	313991	50028011	9100972	112	10235										
TSKS	60385	genome.wustl.edu	37	chr19	50266447	50266447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctccacccccgtgggggtgtCcccggcctcatggatctctt	11	17	2	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:50266447C>T	ENST00000246801.3	-	1	140	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	20					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGGGGGTGTCCCCGGCCTCA	0.657																																																	0													61	66	64					19																	50266447		2203	4300	6503	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.58G>A	19.37:g.50266447C>T	ENSP00000246801:p.Asp20Asn		Q8WXJ0	Missense_Mutation	SNP	NULL	p.D20N	ENST00000246801.3	37	c.58	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154504	0.57259	.	.	ENSG00000126467	ENST00000246801	T	0.51325	0.71	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000387	T	0.56124	0.1964	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.61202	-0.7110	10	0.87932	D	0	-27.6998	15.0676	0.72008	0.0:1.0:0.0:0.0	.	20	Q9UJT2	TSKS_HUMAN	N	20	ENSP00000246801:D20N	ENSP00000246801:D20N	D	-	1	0	TSKS	54958259	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	4.151000	0.58105	2.299000	0.77371	0.467000	0.42956	GAC	TSKS	-	NULL		0.657	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50266447	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50266447	C	T	50266447	3	4	67	1	0	0	0	0	1	0	0	0	16657	855	30	1	1764	1	TSKS	19	50266447	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	238436	50266447	8862536	113	10236										
TSKS	60385	genome.wustl.edu	37	chr19	50266487	50266487	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ttggactgccagatcgtcttCaccaccacgctcgccatggt	9	15	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:50266487C>T	ENST00000246801.3	-	1	100	c.18G>A	c.(16-18)gtG>gtA	p.V6V	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	6					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGATCGTCTTCACCACCACGC	0.637																																																	0													55	58	57					19																	50266487		2203	4300	6503	SO:0001819	synonymous_variant	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.18G>A	19.37:g.50266487C>T			Q8WXJ0	Silent	SNP	NULL	p.V6	ENST00000246801.3	37	c.18	CCDS12780.1	19																																																																																			TSKS	-	NULL		0.637	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50266487	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50266487	C	T	50266487	2	4	67	1	0	0	0	0	0	0	0	1	16657	813	29	1		1	TSKS	19	50266487	Silent	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	40	50266487	8862496	114	10237										
MED25	81857	genome.wustl.edu	37	chr19	50338832	50338832	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ccagggctggggcccattctGgaggaccaagccaggccctc	14	15	1	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr19:50338832G>T	ENST00000312865.6	+	15	1769	c.1716G>T	c.(1714-1716)ctG>ctT	p.L572L	MED25_ENST00000538643.1_Silent_p.L359L	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	572	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GGCCCATTCTGGAGGACCAAG	0.667																																					GBM(51;894 1657 37868)												0													8	9	9					19																	50338832		2168	4259	6427	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1716G>T	19.37:g.50338832G>T			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.L572	ENST00000312865.6	37	c.1716	CCDS33075.1	19																																																																																			MED25	-	NULL		0.667	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	G	NM_030973		50338832	1	no_errors	ENST00000312865	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50338832	G	T	50338832	2	4	67	1	0	0	0	0	0	0	0	1	9466	1335	47	4		4	MED25	19	50338832	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	72345	50338832	8790151	115	10238										
NINL	22981	genome.wustl.edu	37	chr20	25443162	25443162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	attgagctgggataattgatCcttgtagttctgattctggg	12	5	2	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr20:25443162C>G	ENST00000278886.6	-	20	3512	c.3439G>C	c.(3439-3441)Gat>Cat	p.D1147H	NINL_ENST00000422516.1_Missense_Mutation_p.D798H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1147					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GATAATTGATCCTTGTAGTTC	0.383																																																	0													126	123	124					20																	25443162		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3439G>C	20.37:g.25443162C>G	ENSP00000278886:p.Asp1147His		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D1147H	ENST00000278886.6	37	c.3439	CCDS33452.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.92|14.92	2.680036|2.680036	0.47886|0.47886	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000278886;ENST00000422516|ENST00000336104	T;T|.	0.32272|.	3.44;1.46|.	5.17|5.17	3.11|3.11	0.35812|0.35812	.|.	0.295951|.	0.32548|.	N|.	0.005953|.	T|T	0.42154|0.42154	0.1190|0.1190	L|L	0.46157|0.46157	1.445|1.445	0.24276|0.24276	N|N	0.995221|0.995221	D;D|.	0.71674|.	0.998;0.99|.	D;P|.	0.64321|.	0.924;0.898|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.59425|.	D|.	0.04|.	-14.1715|-14.1715	10.7599|10.7599	0.46258|0.46258	0.0:0.8198:0.0:0.1802|0.0:0.8198:0.0:0.1802	.|.	798;1147|.	Q9Y2I6-2;Q9Y2I6|.	.;NINL_HUMAN|.	H|A	1147;798|99	ENSP00000278886:D1147H;ENSP00000410431:D798H|.	ENSP00000278886:D1147H|.	D|G	-|-	1|2	0|0	NINL|NINL	25391162|25391162	0.906000|0.906000	0.30813|0.30813	0.206000|0.206000	0.23566|0.23566	0.799000|0.799000	0.45148|0.45148	0.145000|0.145000	0.16157|0.16157	1.425000|1.425000	0.47237|0.47237	0.561000|0.561000	0.74099|0.74099	GAT|GGA	NINL	-	NULL		0.383	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25443162	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	0.928	G	G	25443162	C	G	25443162	3	3	67	1	0	0	0	0	1	0	0	0	10444	855	30	1	729	1	NINL	20	25443162	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09		25443162	37582358	116	10239										
ITCH	83737	genome.wustl.edu	37	chr20	33026421	33026421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cttcacgaccaccaccacccAccccacgtagaccaggtttg	6	19	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr20:33026421A>C	ENST00000262650.6	+	9	923	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	ITCH_ENST00000374864.4_Missense_Mutation_p.T222P|ITCH_ENST00000535650.1_Missense_Mutation_p.T112P|ITCH-AS1_ENST00000454205.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	263	Arg/Pro-rich (PRR domain).				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACCACCACCCACCCCACGTAG	0.438																																																	0													145	128	134					20																	33026421		2203	4300	6503	SO:0001583	missense	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.787A>C	20.37:g.33026421A>C	ENSP00000262650:p.Thr263Pro		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.T263P	ENST00000262650.6	37	c.787	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294684	0.81025	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.38077	1.16;1.16;1.16	5.4	5.4	0.78164	.	0.343455	0.33477	N	0.004864	T	0.47637	0.1456	L	0.32530	0.975	0.80722	D	1	D;D;B	0.89917	0.971;1.0;0.05	B;D;B	0.87578	0.441;0.998;0.046	T	0.35943	-0.9768	10	0.32370	T	0.25	.	13.6622	0.62374	1.0:0.0:0.0:0.0	.	174;263;222	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	P	222;112;263	ENSP00000363998:T222P;ENSP00000445608:T112P;ENSP00000262650:T263P	ENSP00000262650:T263P	T	+	1	0	ITCH	32490082	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.634000	0.83273	2.044000	0.60594	0.533000	0.62120	ACC	ITCH	-	NULL		0.438	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	A			33026421	1	no_errors	ENST00000262650	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33026421	A	C	33026421	3	2	67	1	0	0	0	0	1	0	0	0	7888	159	6	5	686	5	ITCH	20	33026421	Missense_Mutation	SNP	A	TCGA-DS-A7WH-01A-22D-A351-09	7583259	33026421	29999099	117	10240										
DBNDD2	55861	genome.wustl.edu	37	chr20	44038718	44038718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	atggagcagatacgcccttgGcacagtcggatgaagaggag	15	8	0	3			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr20:44038718G>A	ENST00000372720.3	+	4	949	c.718G>A	c.(718-720)Gca>Aca	p.A240T	DBNDD2_ENST00000360981.4_Missense_Mutation_p.A142T|DBNDD2_ENST00000372723.3_Missense_Mutation_p.A142T|DBNDD2_ENST00000372712.2_Missense_Mutation_p.A142T|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000357275.2_Missense_Mutation_p.A142T|DBNDD2_ENST00000372722.3_3'UTR|DBNDD2_ENST00000372717.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.A244T	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	240					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TACGCCCTTGGCACAGTCGGA	0.592																																																	0													44	44	44					20																	44038718		2022	4173	6195	SO:0001583	missense	55861			AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.718G>A	20.37:g.44038718G>A	ENSP00000361805:p.Ala240Thr		Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	pfam_Dysbindin	p.A240T	ENST00000372720.3	37	c.718	CCDS56193.1	20	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912895	0.92178	.	.	ENSG00000244274	ENST00000372723;ENST00000357275;ENST00000372720;ENST00000360981;ENST00000372712;ENST00000372710	T;T;T;T;T;T	0.33438	1.5;1.5;1.43;1.5;1.5;1.41	5.72	5.72	0.89469	.	0.154450	0.45867	D	0.000325	T	0.49253	0.1546	L	0.51422	1.61	0.34404	D	0.695593	D	0.65815	0.995	D	0.65140	0.932	T	0.59354	-0.7470	10	0.62326	D	0.03	-13.2136	16.6212	0.84931	0.0:0.0:1.0:0.0	.	240	Q9BQY9	DBND2_HUMAN	T	142;142;240;142;142;244	ENSP00000361808:A142T;ENSP00000349822:A142T;ENSP00000361805:A240T;ENSP00000354250:A142T;ENSP00000361797:A142T;ENSP00000361795:A244T	ENSP00000349822:A142T	A	+	1	0	DBNDD2	43472132	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.298000	0.72763	2.701000	0.92244	0.514000	0.50259	GCA	DBNDD2	-	NULL		0.592	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	DBNDD2	HGNC	protein_coding	OTTHUMT00000079438.1	G	NM_018478		44038718	1	no_errors	ENST00000372720	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44038718	G	A	44038718	3	1	67	1	0	0	0	0	1	0	0	0	4259	1203	42	4	496	4	DBNDD2	20	44038718	Missense_Mutation	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	11012297	44038718	18986802	118	10241										
ZNFX1	57169	genome.wustl.edu	37	chr20	47874075	47874075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cactctcttccttcttccgcCgctggggcctcaccacctct	6	20	4	0	rs139657531		TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr20:47874075C>T	ENST00000396105.1	-	8	2789	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R848Q|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R848Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	848							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTCTTCCGCCGCTGGGGCCT	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		5735	0		0	False		,,,				2504	0																0								C	GLN/ARG	0,4406		0,0,2203	149	138	142		2543	3.6	0	20	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNFX1	NM_021035.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	848/1919	47874075	1,13005	2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2543G>A	20.37:g.47874075C>T	ENSP00000379412:p.Arg848Gln		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.R848Q	ENST00000396105.1	37	c.2543	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	9.036	0.988381	0.18966	0.0	1.16E-4	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.86297	-1.83;-2.1;-2.1;-0.78;-1.49	5.87	3.61	0.41365	.	0.179467	0.45867	N	0.000322	T	0.75759	0.3893	L	0.31752	0.955	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.56329	-0.7997	10	0.11485	T	0.65	-16.7347	8.3989	0.32574	0.0:0.7084:0.1323:0.1592	.	848	Q9P2E3	ZNFX1_HUMAN	Q	848;848;848;848;848;652	ENSP00000360819:R848Q;ENSP00000360817:R848Q;ENSP00000379412:R848Q;ENSP00000360809:R848Q;ENSP00000413800:R652Q	ENSP00000360809:R848Q	R	-	2	0	ZNFX1	47307482	0.001000	0.12720	0.040000	0.18447	0.027000	0.11550	0.931000	0.28871	1.492000	0.48499	0.655000	0.94253	CGG	ZNFX1	-	NULL		0.572	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	C	NM_021035		47874075	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	missense	SNP	0.010	T	T	47874075	C	T	47874075	3	4	67	1	0	0	0	0	1	0	0	0	18235	652	23	2	3241	2	ZNFX1	20	47874075	Missense_Mutation	SNP	C	TCGA-DS-A7WH-01A-22D-A351-09	3835357	47874075	15151445	119	10242										
PNPLA5	150379	genome.wustl.edu	37	chr22	44287689	44287689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	aggcattcggtggcgcccacGtggtgggcgcccaggtagcc	17	13	0	0			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chr22:44287689G>A	ENST00000597664.1	-	1	201	c.72C>T	c.(70-72)caC>caT	p.H24H	PNPLA5_ENST00000381198.2_Silent_p.H24H|PNPLA5_ENST00000593866.1_Silent_p.H24H|PNPLA5_ENST00000216177.4_Silent_p.H24H			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	24	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGCGCCCACGTGGTGGGCGC	0.711																																																	0													4	5	5					22																	44287689		1620	3066	4686	SO:0001819	synonymous_variant	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.72C>T	22.37:g.44287689G>A			B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.H24	ENST00000597664.1	37	c.72		22																																																																																			PNPLA5	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.711	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4	G	NM_138814		44287689	-1	no_errors	ENST00000216177	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44287689	G	A	44287689	2	1	67	1	0	0	0	0	0	0	0	1	12192	1136	40	2		2	PNPLA5	22	44287689	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		44287689	7016877	120	10243										
TBX22	50945	genome.wustl.edu	37	chrX	79278734	79278734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gagatgatcattactaaagcGggcaggttcggttctgccca	12	9	2	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chrX:79278734G>A	ENST00000373294.5	+	2	379	c.351G>A	c.(349-351)gcG>gcA	p.A117A	TBX22_ENST00000373296.3_Silent_p.A117A|TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000442340.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	117					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTACTAAAGCGGGCAGGTTCG	0.448																																																	0													62	57	58					X																	79278734		2203	4300	6503	SO:0001819	synonymous_variant	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.351G>A	X.37:g.79278734G>A			Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A117	ENST00000373294.5	37	c.351	CCDS14445.1	X																																																																																			TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.448	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	G	NM_016954		79278734	1	no_errors	ENST00000373294	ensembl	human	known	70_37	silent	SNP	0.655	A	A	79278734	G	A	79278734	2	1	67	1	0	0	0	0	0	0	0	1	15688	1130	39	2		2	TBX22	23	79278734	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09		79278734	75991826	121	10244										
ZMAT1	84460	genome.wustl.edu	37	chrX	101139637	101139637	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	gaatcgaccacttctctgtaTctacgggtttccaaagaact	7	11	2	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chrX:101139637T>A	ENST00000372782.3	-	7	809	c.762A>T	c.(760-762)agA>agT	p.R254S	ZMAT1_ENST00000540921.1_Missense_Mutation_p.R254S|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R83S|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	254						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCTCTGTATCTACGGGTTT	0.428																																																	0													185	165	172					X																	101139637		2203	4300	6503	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.762A>T	X.37:g.101139637T>A	ENSP00000361868:p.Arg254Ser		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.R254S	ENST00000372782.3	37	c.762	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	T	3.988	-0.004994	0.07773	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.21543	2.58;2.58;2.0	4.14	-1.85	0.07784	.	0.772531	0.11127	N	0.596736	T	0.10766	0.0263	N	0.24115	0.695	0.09310	N	1	B	0.25105	0.118	B	0.17433	0.018	T	0.23048	-1.0199	10	0.45353	T	0.12	-0.2628	3.8513	0.08955	0.2967:0.1954:0.0:0.5079	.	254	Q5H9K5	ZMAT1_HUMAN	S	254;254;83	ENSP00000361868:R254S;ENSP00000437529:R254S;ENSP00000413044:R83S	ENSP00000361868:R254S	R	-	3	2	ZMAT1	101026293	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.880000	0.01627	-0.597000	0.05813	0.437000	0.28790	AGA	ZMAT1	-	NULL		0.428	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	T			101139637	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	0.000	A	A	101139637	T	A	101139637	3	1	67	1	0	0	0	0	1	0	0	0	17721	1432	50	5	1158	5	ZMAT1	23	101139637	Missense_Mutation	SNP	T	TCGA-DS-A7WH-01A-22D-A351-09	21860903	101139637	54130923	122	10245										
CAPN6	827	genome.wustl.edu	37	chrX	110496436	110496436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	cattcctgttccttatggttGggaattgtctagaaatgcaa	9	7	1	1			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chrX:110496436G>A	ENST00000324068.1	-	4	473	c.306C>T	c.(304-306)ccC>ccT	p.P102P	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	102	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTATGGTTGGGAATTGTCT	0.403																																																	0													75	74	74					X																	110496436		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.306C>T	X.37:g.110496436G>A			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.P102	ENST00000324068.1	37	c.306	CCDS14555.1	X																																																																																			CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.403	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	G			110496436	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	silent	SNP	0.501	A	A	110496436	G	A	110496436	2	1	67	1	0	0	0	0	0	0	0	1	2635	1335	47	4		4	CAPN6	23	110496436	Silent	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	9356799	110496436	44774124	123	10246										
FAM50A	9130	genome.wustl.edu	37	chrX	153677568	153677568	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338842975206612	41	8.57762181014383e-12	3.21193992254164	6.1105198526402	2.68492538979645	0.000621841010561651	0.0046398906172677	28	ctcctggattcccggatacaGatgagaaagggcaacaccat	10	11	0	2			TCGA-DS-A7WH-01A-22D-A351-09	TCGA-DS-A7WH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c1b9a90f-1b7e-4ce1-955e-d67478395417	3593a6b0-2918-42ea-a3aa-1855ded8c03b	g.chrX:153677568G>A	ENST00000393600.3	+	8	758		c.e8-1			NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A						spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGATACAGATGAGAAAGG	0.592																																																	0													143	120	128					X																	153677568		2203	4300	6503	SO:0001630	splice_region_variant	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.649-1G>A	X.37:g.153677568G>A			A8KAQ4|B2R997|Q5HY37|Q6PJH5	Splice_Site	SNP	-	e8-1	ENST00000393600.3	37	c.649-1	CCDS14751.1	X	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856858	0.32791	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3012	0.82816	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM50A	153330762	1.000000	0.71417	0.915000	0.36163	0.080000	0.17528	7.159000	0.77483	2.189000	0.69895	0.600000	0.82982	.	FAM50A	-	-		0.592	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	G	NM_004699	Intron	153677568	1	no_errors	ENST00000393600	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	153677568	G	A	153677568	5	1	67	1	0	0	0	0	0	0	1	0	5595	956	33	1	678	1	FAM50A	23	153677568	Splice_Site	SNP	G	TCGA-DS-A7WH-01A-22D-A351-09	43181132	153677568	1592992	124	10247										
MARS2	92935	genome.wustl.edu	37	chr2	198571412	198571412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	cccagccttctgcactacctGcttccctagtgagccagggt	9	16	1	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr2:198571412G>A	ENST00000282276.6	+	1	1326	c.1283G>A	c.(1282-1284)tGc>tAc	p.C428Y	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	428					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGCACTACCTGCTTCCCTAGT	0.557																																																	0													88	90	89					2																	198571412		2203	4300	6503	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1283G>A	2.37:g.198571412G>A	ENSP00000282276:p.Cys428Tyr		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.C428Y	ENST00000282276.6	37	c.1283	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	G	4.995	0.184836	0.09495	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.41400	1.0	5.17	4.26	0.50523	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.562536	0.20160	N	0.097975	T	0.31358	0.0794	L	0.47716	1.5	0.40083	D	0.976158	P	0.35551	0.509	B	0.21917	0.037	T	0.11421	-1.0588	10	0.25106	T	0.35	-13.3776	13.1251	0.59349	0.0:0.1621:0.8379:0.0	.	428	Q96GW9	SYMM_HUMAN	Y	428;355	ENSP00000282276:C428Y	ENSP00000282276:C428Y	C	+	2	0	MARS2	198279657	0.994000	0.37717	0.997000	0.53966	0.987000	0.75469	2.558000	0.45879	1.344000	0.45657	0.655000	0.94253	TGC	MARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth		0.557	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	G	NM_138395		198571412	1	no_errors	ENST00000282276	ensembl	human	known	70_37	missense	SNP	0.990	A	A	198571412	G	A	198571412	3	1	68	1	0	0	0	0	1	0	0	0	9340	1319	46	4	1285	4	MARS2	2	198571412	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		198571412	44627961	1	10248										
CASP8	841	genome.wustl.edu	37	chr2	202149755	202149755	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ctatgagctgacatctcagtTcactggtttgaagtgccctt	9	10	2	3			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr2:202149755T>G	ENST00000432109.2	+	9	1208	c.1019T>G	c.(1018-1020)tTc>tGc	p.F340C	CASP8_ENST00000264274.9_Missense_Mutation_p.F256C|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.F325C|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.F357C|CASP8_ENST00000358485.4_Missense_Mutation_p.F399C	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	340					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACATCTCAGTTCACTGGTTTG	0.483										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													134	120	125					2																	202149755		2203	4300	6503	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1019T>G	2.37:g.202149755T>G	ENSP00000412523:p.Phe340Cys		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.F399C	ENST00000432109.2	37	c.1196	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222799	0.79464	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.047568	0.85682	D	0.000000	D	0.95124	0.8420	H	0.97051	3.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96715	0.9528	10	0.87932	D	0	.	15.9161	0.79521	0.0:0.0:0.0:1.0	.	256;399;340;325;357	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	C	325;256;340;357;399;325;119	ENSP00000376091:F325C;ENSP00000264274:F256C;ENSP00000412523:F340C;ENSP00000264275:F357C;ENSP00000351273:F399C;ENSP00000325722:F325C;ENSP00000394434:F119C	ENSP00000264274:F256C	F	+	2	0	CASP8	201858000	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.846000	0.86887	2.170000	0.68504	0.459000	0.35465	TTC	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.483	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	T	NM_001228		202149755	1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	1.000	G	G	202149755	T	G	202149755	3	3	68	1	0	0	0	0	1	0	0	0	2682	1783	62	5	1326	5	CASP8	2	202149755	Missense_Mutation	SNP	T	TCGA-DS-A7WI-01A-12D-A351-09	3578343	202149755	41049618	2	10249										
TRIP12	9320	genome.wustl.edu	37	chr2	230660005	230660006	+	Frame_Shift_Ins	INS	-	-	C													0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	atgccaacaaaggtgcattaINScccactggttccactcttcc							TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr2:230660005_230660006insC	ENST00000283943.5	-	25	3810_3811	c.3632_3633insG	c.(3631-3633)ggtfs	p.G1211fs	TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.G1259fs|TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.G941fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1211					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAGGTGCATTACCCACTGGTTC	0.406																																																	0																																										SO:0001589	frameshift_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3633dupG	2.37:g.230660008_230660008dupC	ENSP00000283943:p.Gly1211fs		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.N1212fs	ENST00000283943.5	37	c.3633_3632	CCDS33391.1	2																																																																																			TRIP12	-	NULL		0.406	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	NM_004238		230660006	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	frame_shift_ins	INS	0.976:1.000	C	C	230660006	-	C	230660005	7	5	68	1	0	1	1	0	0	0	0	0	16587	378	14	0	2413	0	TRIP12	2	230660005	Frame_Shift_Ins	INS	-	TCGA-DS-A7WI-01A-12D-A351-09	28510250	230660005	12539368	3	10250										
SERPINI1	5274	genome.wustl.edu	37	chr3	167508283	167508283	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	tcatgtcaatgaggagttttTgcaaatgatgaaaaaatatt	8	3	2	3			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr3:167508283T>G	ENST00000295777.5	+	3	805	c.374T>G	c.(373-375)tTg>tGg	p.L125W	SERPINI1_ENST00000446050.2_Missense_Mutation_p.L125W	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	125					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAGGAGTTTTTGCAAATGATG	0.358																																																	0													97	101	100					3																	167508283		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.374T>G	3.37:g.167508283T>G	ENSP00000295777:p.Leu125Trp		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L125W	ENST00000295777.5	37	c.374	CCDS3203.1	3	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517115	0.85495	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;T;T;T	0.89552	-2.53;-1.08;-1.08;-1.08	5.51	5.51	0.81932	Serpin domain (3);	0.084064	0.56097	D	0.000034	D	0.96147	0.8744	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97392	0.9990	10	0.87932	D	0	.	15.6237	0.76833	0.0:0.0:0.0:1.0	.	125	Q99574	NEUS_HUMAN	W	125	ENSP00000420133:L125W;ENSP00000397373:L125W;ENSP00000295777:L125W;ENSP00000420561:L125W	ENSP00000295777:L125W	L	+	2	0	SERPINI1	168990977	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.698000	0.84413	2.091000	0.63221	0.455000	0.32223	TTG	SERPINI1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.358	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	HGNC	protein_coding	OTTHUMT00000351056.1	T			167508283	1	no_errors	ENST00000295777	ensembl	human	known	70_37	missense	SNP	1.000	G	G	167508283	T	G	167508283	3	3	68	1	0	0	0	0	1	0	0	0	14148	1821	63	5	380	5	SERPINI1	3	167508283	Missense_Mutation	SNP	T	TCGA-DS-A7WI-01A-12D-A351-09		167508283	30514147	4	10251										
GMDS	2762	genome.wustl.edu	37	chr6	2116041	2116041	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gctccaaggttgtagatctcTgtgggctttacttcattaat	9	8	2	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr6:2116041T>A	ENST00000380815.4	-	4	578	c.309A>T	c.(307-309)acA>acT	p.T103T	GMDS_ENST00000530927.1_Silent_p.T73T	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	103					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGTAGATCTCTGTGGGCTTTA	0.438																																																	0													210	195	200					6																	2116041		2203	4300	6503	SO:0001819	synonymous_variant	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.309A>T	6.37:g.2116041T>A			E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.T103	ENST00000380815.4	37	c.309	CCDS4474.1	6																																																																																			GMDS	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase		0.438	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	T			2116041	-1	no_errors	ENST00000380815	ensembl	human	known	70_37	silent	SNP	0.013	A	A	2116041	T	A	2116041	2	1	68	1	0	0	0	0	0	0	0	1	6505	1567	55	5		5	GMDS	6	2116041	Silent	SNP	T	TCGA-DS-A7WI-01A-12D-A351-09		2116041	168999026	5	10252										
SPACA1	81833	genome.wustl.edu	37	chr6	88767424	88767424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gaatgccgtggaccaacagaTtgtggctgtgagttgaatta	13	6	0	3			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr6:88767424T>C	ENST00000237201.1	+	3	477	c.360T>C	c.(358-360)gaT>gaC	p.D120D		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	120					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GACCAACAGATTGTGGCTGTG	0.448																																																	0													103	101	102					6																	88767424		2203	4300	6503	SO:0001819	synonymous_variant	81833			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.360T>C	6.37:g.88767424T>C				Silent	SNP	NULL	p.D120	ENST00000237201.1	37	c.360	CCDS5014.1	6																																																																																			SPACA1	-	NULL		0.448	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	T			88767424	1	no_errors	ENST00000237201	ensembl	human	known	70_37	silent	SNP	0.985	C	C	88767424	T	C	88767424	2	2	68	1	0	0	0	0	0	0	0	1	15002	1490	52	5		5	SPACA1	6	88767424	Silent	SNP	T	TCGA-DS-A7WI-01A-12D-A351-09	86651383	88767424	82347643	6	10253										
ARHGEF5	7984	genome.wustl.edu	37	chr7	144060304	144060304	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	agataactctggtcagaccaGatattattctccctgcgaag	8	10	3	3			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr7:144060304G>C	ENST00000056217.5	+	2	716	c.542G>C	c.(541-543)aGa>aCa	p.R181T	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	181					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGTCAGACCAGATATTATTCT	0.502																																																	0													61	67	65					7																	144060304		2109	4135	6244	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.542G>C	7.37:g.144060304G>C	ENSP00000056217:p.Arg181Thr		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R181T	ENST00000056217.5	37	c.542	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	9.443	1.088671	0.20390	.	.	ENSG00000050327	ENST00000056217	T	0.78003	-1.14	4.33	-0.132	0.13489	.	0.424262	0.17053	U	0.188869	T	0.63462	0.2513	L	0.39898	1.24	0.09310	N	1	B	0.20671	0.047	B	0.19391	0.025	T	0.47045	-0.9147	9	.	.	.	.	6.8596	0.24060	0.0924:0.0:0.2778:0.6298	.	181	Q12774	ARHG5_HUMAN	T	181	ENSP00000056217:R181T	.	R	+	2	0	ARHGEF5	143691237	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.331000	0.19733	-0.232000	0.09811	0.650000	0.86243	AGA	ARHGEF5	-	NULL		0.502	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	G	NM_005435		144060304	1	no_errors	ENST00000056217	ensembl	human	known	70_37	missense	SNP	0.000	C	C	144060304	G	C	144060304	3	2	68	1	0	0	0	0	1	0	0	0	909	942	33	1	544	1	ARHGEF5	7	144060304	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		144060304	15078359	7	10254										
MMP16	4325	genome.wustl.edu	37	chr8	89053808	89053808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	taaggccaagatgcagggaaTgacaatagctatggctttca	11	7	1	2			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr8:89053808T>G	ENST00000286614.6	-	10	1986	c.1705A>C	c.(1705-1707)Att>Ctt	p.I569L		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	569					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATGCAGGGAATGACAATAGCT	0.463																																																	0													298	233	255					8																	89053808		2203	4300	6503	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1705A>C	8.37:g.89053808T>G	ENSP00000286614:p.Ile569Leu		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.I569L	ENST00000286614.6	37	c.1705	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087411	0.55968	.	.	ENSG00000156103	ENST00000286614	T	0.41065	1.01	5.62	5.62	0.85841	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.41236	1.265	0.80722	D	1	B	0.17852	0.024	B	0.33392	0.163	T	0.20140	-1.0284	10	0.18710	T	0.47	.	15.8189	0.78626	0.0:0.0:0.0:1.0	.	569	P51512	MMP16_HUMAN	L	569	ENSP00000286614:I569L	ENSP00000286614:I569L	I	-	1	0	MMP16	89122924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.131000	0.65755	0.482000	0.46254	ATT	MMP16	-	pfam_Pept_M10A_metallopeptidase_C		0.463	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	T	NM_005941		89053808	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89053808	T	G	89053808	3	3	68	1	0	0	0	0	1	0	0	0	9678	1464	51	5	122	5	MMP16	8	89053808	Missense_Mutation	SNP	T	TCGA-DS-A7WI-01A-12D-A351-09		89053808	57310214	8	10255										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110417308	110417308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ccagcccatgtgtggaagctAattcatgttcactttaccaa	7	11	2	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr8:110417308A>T	ENST00000378402.5	+	16	1722	c.1618A>T	c.(1618-1620)Aat>Tat	p.N540Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	540					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTGGAAGCTAATTCATGTTC	0.313										HNSCC(38;0.096)																																							0													28	28	28					8																	110417308		1807	4067	5874	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1618A>T	8.37:g.110417308A>T	ENSP00000367655:p.Asn540Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.N540Y	ENST00000378402.5	37	c.1618	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137428	0.37728	.	.	ENSG00000205038	ENST00000378402	D	0.86164	-2.08	5.65	1.87	0.25490	.	0.712054	0.13931	N	0.352869	D	0.82995	0.5158	M	0.70595	2.14	0.09310	N	1	P	0.44309	0.832	B	0.38106	0.265	T	0.73805	-0.3867	10	0.66056	D	0.02	.	5.4715	0.16672	0.6936:0.1475:0.1589:0.0	.	540	Q86WI1	PKHL1_HUMAN	Y	540	ENSP00000367655:N540Y	ENSP00000367655:N540Y	N	+	1	0	PKHD1L1	110486484	0.000000	0.05858	0.008000	0.14137	0.985000	0.73830	0.292000	0.19011	0.081000	0.16988	0.528000	0.53228	AAT	PKHD1L1	-	NULL		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	A	NM_177531		110417308	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.055	T	T	110417308	A	T	110417308	3	4	68	1	0	0	0	0	1	0	0	0	11996	362	13	5	1680	5	PKHD1L1	8	110417308	Missense_Mutation	SNP	A	TCGA-DS-A7WI-01A-12D-A351-09	21363500	110417308	35946714	9	10256										
OR13C8	138802	genome.wustl.edu	37	chr9	107331533	107331533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	agctccagacagttttcttcGttctaattttgtggatgtac	8	8	2	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr9:107331533G>A	ENST00000335040.1	+	1	85	c.85G>A	c.(85-87)Gtt>Att	p.V29I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGTTTTCTTCGTTCTAATTTT	0.428																																																	0													217	211	213					9																	107331533		2203	4300	6503	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.85G>A	9.37:g.107331533G>A	ENSP00000334068:p.Val29Ile		Q5VVG0|Q96R44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V29I	ENST00000335040.1	37	c.85	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	G	9.602	1.128922	0.21041	.	.	ENSG00000186943	ENST00000335040	T	0.00285	8.3	4.97	3.14	0.36123	.	0.567764	0.15865	N	0.240859	T	0.00210	0.0006	L	0.39326	1.205	0.25578	N	0.986827	B	0.19331	0.035	B	0.15484	0.013	T	0.24621	-1.0155	10	0.37606	T	0.19	.	9.485	0.38924	0.1772:0.0:0.8228:0.0	.	29	Q8NGS7	O13C8_HUMAN	I	29	ENSP00000334068:V29I	ENSP00000334068:V29I	V	+	1	0	OR13C8	106371354	0.000000	0.05858	1.000000	0.80357	0.337000	0.28794	-0.211000	0.09332	1.461000	0.47929	-0.137000	0.14449	GTT	OR13C8	-	prints_GPCR_Rhodpsn		0.428	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	G			107331533	1	no_errors	ENST00000335040	ensembl	human	known	70_37	missense	SNP	0.995	A	A	107331533	G	A	107331533	3	1	68	1	0	0	0	0	1	0	0	0	10962	1145	40	2	87	2	OR13C8	9	107331533	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		107331533	33881898	10	10257										
HSPA5	3309	genome.wustl.edu	37	chr9	128001705	128001705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gaatttcatacttacggctcGttgatgatcctcataacatt	6	9	2	2			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr9:128001705G>A	ENST00000324460.6	-	4	803	c.600C>T	c.(598-600)aaC>aaT	p.N200N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	200					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CTTACGGCTCGTTGATGATCC	0.408										Prostate(1;0.17)																																							0													100	101	101					9																	128001705		2203	4300	6503	SO:0001819	synonymous_variant	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.600C>T	9.37:g.128001705G>A			B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.N200	ENST00000324460.6	37	c.600	CCDS6863.1	9																																																																																			HSPA5	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.408	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA5	HGNC	protein_coding	OTTHUMT00000054062.1	G			128001705	-1	no_errors	ENST00000324460	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128001705	G	A	128001705	2	1	68	1	0	0	0	0	0	0	0	1	7434	1136	40	2		2	HSPA5	9	128001705	Silent	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	20670172	128001705	13211726	11	10258										
PPP2R5B	5526	genome.wustl.edu	37	chr11	64693304	64693304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	caaggtggacggcttctcccGccgttccctccgcagagccc	11	18	1	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr11:64693304G>A	ENST00000164133.2	+	2	720	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	33					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GGCTTCTCCCGCCGTTCCCTC	0.687																																																	0													14	15	15					11																	64693304		2198	4295	6493	SO:0001583	missense	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.98G>A	11.37:g.64693304G>A	ENSP00000164133:p.Arg33His		Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.R33H	ENST00000164133.2	37	c.98	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833021	0.91036	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.74	3.74	0.42951	.	0.000000	0.64402	D	0.000001	T	0.63046	0.2478	L	0.32530	0.975	0.58432	D	0.999996	D	0.89917	1.0	D	0.67231	0.95	T	0.63699	-0.6578	9	0.44086	T	0.13	-10.3586	13.4611	0.61227	0.0:0.0:1.0:0.0	.	33	Q15173	2A5B_HUMAN	H	33;33;60;33	.	ENSP00000164133:R33H	R	+	2	0	PPP2R5B	64449880	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	7.077000	0.76814	2.111000	0.64477	0.549000	0.68633	CGC	PPP2R5B	-	pirsf_PP2A_B56		0.687	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	G	NM_006244		64693304	1	no_errors	ENST00000164133	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64693304	G	A	64693304	3	1	68	1	0	0	0	0	1	0	0	0	12420	1087	38	2	100	2	PPP2R5B	11	64693304	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		64693304	70313212	12	10259										
PDE2A	5138	genome.wustl.edu	37	chr11	72308582	72308582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	tcaggagccagtggagccacCagcctggccaagggcttccc	13	15	1	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr11:72308582C>A	ENST00000334456.5	-	5	650	c.405G>T	c.(403-405)ctG>ctT	p.L135L	PDE2A_ENST00000540345.1_Silent_p.L126L|PDE2A_ENST00000544570.1_Silent_p.L128L|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Silent_p.L126L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	135					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GTGGAGCCACCAGCCTGGCCA	0.642																																																	0													30	31	31					11																	72308582		2200	4293	6493	SO:0001819	synonymous_variant	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.405G>T	11.37:g.72308582C>A			B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	NULL	p.W146L	ENST00000334456.5	37	c.437	CCDS8216.1	11																																																																																			PDE2A	-	NULL		0.642	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	C	NM_002599		72308582	-1	no_errors	ENST00000485058	ensembl	human	known	70_37	missense	SNP	0.974	A	A	72308582	C	A	72308582	2	1	68	1	0	0	0	0	0	0	0	1	11660	581	21	4		4	PDE2A	11	72308582	Silent	SNP	C	TCGA-DS-A7WI-01A-12D-A351-09	7615278	72308582	62697934	13	10260										
KRT1	3848	genome.wustl.edu	37	chr12	53069220	53069220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ccacctccagagccatagctGccacctccggagccgtagct	9	18	0	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr12:53069220G>A	ENST00000252244.3	-	9	1750	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	564	Gly/Ser-rich.|Tail.		Missing (in allele 1B). {ECO:0000269|PubMed:1281859}.	G -> S (in Ref. 9; AAA36153). {ECO:0000305}.	complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						agccatagctgccacctccgg	0.706																																																	0																																										SO:0001819	synonymous_variant	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1692C>T	12.37:g.53069220G>A			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G564	ENST00000252244.3	37	c.1692	CCDS8836.1	12																																																																																			KRT1	-	NULL		0.706	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	G	NM_006121		53069220	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	silent	SNP	0.375	A	A	53069220	G	A	53069220	2	1	68	1	0	0	0	0	0	0	0	1	8467	1306	46	4		4	KRT1	12	53069220	Silent	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		53069220	80782675	14	10261										
TJP1	7082	genome.wustl.edu	37	chr15	30025009	30025009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	tgtatactgtacactggctaGctgctcagctctacacaaga	8	11	2	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr15:30025009G>T	ENST00000346128.6	-	14	2221	c.1747C>A	c.(1747-1749)Cta>Ata	p.L583I	TJP1_ENST00000356107.6_Missense_Mutation_p.L583I|TJP1_ENST00000400011.2_Missense_Mutation_p.L587I|TJP1_ENST00000545208.2_Missense_Mutation_p.L583I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	583	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACACTGGCTAGCTGCTCAGCT	0.403																																					Melanoma(77;681 1843 6309 6570)												0													36	35	35					15																	30025009		1838	4090	5928	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1747C>A	15.37:g.30025009G>T	ENSP00000281537:p.Leu583Ile		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.L583I	ENST00000346128.6	37	c.1747	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612818	0.66672	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.73	-2.04	0.07343	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.87578	0.997;0.998;0.997;0.996	T	0.02365	-1.1170	9	.	.	.	.	14.5422	0.68002	0.3105:0.0:0.6895:0.0	.	576;583;583;587	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	I	583;587;583;583;583	ENSP00000281537:L583I;ENSP00000382890:L587I;ENSP00000441202:L583I;ENSP00000348416:L583I	.	L	-	1	2	TJP1	27812301	1.000000	0.71417	0.515000	0.27774	0.973000	0.67179	1.646000	0.37249	-0.271000	0.09272	0.655000	0.94253	CTA	TJP1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	G	NM_003257		30025009	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	0.976	T	T	30025009	G	T	30025009	3	4	68	1	0	0	0	0	1	0	0	0	15959	962	34	4	3559	4	TJP1	15	30025009	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		30025009	72506383	15	10262										
RHOV	171177	genome.wustl.edu	37	chr15	41165482	41165482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gttggggcacggggccctccCggcccccctggtccagctga	15	17	0	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr15:41165482C>A	ENST00000220507.4	-	3	634	c.485G>T	c.(484-486)cGg>cTg	p.R162L	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGGGCCCTCCCGGCCCCCCTG	0.647																																					Pancreas(13;103 483 3593 12123 44457)												0													50	58	56					15																	41165482		2203	4300	6503	SO:0001583	missense	171177			AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"ras homolog gene family, member V"	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.485G>T	15.37:g.41165482C>A	ENSP00000220507:p.Arg162Leu			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R162L	ENST00000220507.4	37	c.485	CCDS10068.1	15	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587962	0.66105	.	.	ENSG00000104140	ENST00000220507	T	0.65732	-0.17	5.63	4.72	0.59763	Small GTP-binding protein domain (1);	0.384624	0.30556	N	0.009362	T	0.41143	0.1146	N	0.02665	-0.54	0.37674	D	0.923239	P	0.38582	0.638	P	0.45971	0.499	T	0.50276	-0.8847	10	0.44086	T	0.13	-35.5951	6.7836	0.23662	0.0:0.7014:0.0:0.2986	.	162	Q96L33	RHOV_HUMAN	L	162	ENSP00000220507:R162L	ENSP00000220507:R162L	R	-	2	0	RHOV	38952774	0.995000	0.38212	1.000000	0.80357	0.764000	0.43329	2.696000	0.47052	1.384000	0.46424	0.455000	0.32223	CGG	RHOV	-	pfam_Small_GTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.647	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOV	HGNC	protein_coding	OTTHUMT00000252442.1	C			41165482	-1	no_errors	ENST00000220507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41165482	C	A	41165482	3	1	68	1	0	0	0	0	1	0	0	0	13376	652	23	2	229	2	RHOV	15	41165482	Missense_Mutation	SNP	C	TCGA-DS-A7WI-01A-12D-A351-09	11140473	41165482	61365910	16	10263										
SEMA6D	80031	genome.wustl.edu	37	chr15	48058809	48058809	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	cttctttgctttccataaccAcagtgctgaaggatatgaac	7	10	1	2			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr15:48058809A>C	ENST00000316364.5	+	16	2085				SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H561P|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H561P|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H561P|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H561P|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000558816.1_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCCATAACCACAGTGCTGAA	0.458																																																	0													160	132	141					15																	48058809		2198	4297	6495	SO:0001627	intron_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1647-4A>C	15.37:g.48058809A>C			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.H561P	ENST00000316364.5	37	c.1682	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428947	0.43122	.	.	ENSG00000137872	ENST00000537942;ENST00000389432;ENST00000358066	T;T;T	0.16743	2.32;2.36;2.32	5.34	3.06	0.35304	.	.	.	.	.	T	0.08891	0.0220	N	0.08118	0	0.80722	D	1	B	0.25105	0.118	B	0.28232	0.087	T	0.22487	-1.0215	9	0.38643	T	0.18	.	8.1246	0.30990	0.7919:0.0:0.2081:0.0	.	561	Q8NFY4-2	.	P	561	ENSP00000442040:H561P;ENSP00000374083:H561P;ENSP00000350770:H561P	ENSP00000350770:H561P	H	+	2	0	SEMA6D	45846101	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.514000	0.45503	0.498000	0.27948	0.533000	0.62120	CAC	SEMA6D	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	A	NM_024966		48058809	1	no_errors	ENST00000389432	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48058809	A	C	48058809	1	2	68	0	1	0	0	0	0	0	0	0	14072	159	6	5		5	SEMA6D	15	48058809	Intron	SNP	A	TCGA-DS-A7WI-01A-12D-A351-09	6893327	48058809	54472583	17	10264										
AKAP13	11214	genome.wustl.edu	37	chr15	86123232	86123232	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	attcatctcatgctcaaagcCaaaagggcaaatcctcaccc	5	14	4	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr15:86123232C>T	ENST00000394518.2	+	7	2028	c.1933C>T	c.(1933-1935)Caa>Taa	p.Q645*	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.Q645*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	645					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTCAAAGCCAAAAGGGCAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)												0													151	135	141					15																	86123232		2202	4299	6501	SO:0001587	stop_gained	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1933C>T	15.37:g.86123232C>T	ENSP00000378026:p.Gln645*		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q645*	ENST00000394518.2	37	c.1933	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.639851	0.98406	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	4.8	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.22911	N	0.998576	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.4987	0.44794	0.0:0.8031:0.1969:0.0	.	.	.	.	X	645;645;644;644	.	ENSP00000354718:Q645X	Q	+	1	0	AKAP13	83924236	0.001000	0.12720	0.177000	0.23020	0.720000	0.41350	0.794000	0.26958	2.365000	0.80145	0.655000	0.94253	CAA	AKAP13	-	NULL		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86123232	1	no_errors	ENST00000361243	ensembl	human	known	70_37	nonsense	SNP	0.030	T	T	86123232	C	T	86123232	4	4	68	1	0	0	0	0	0	1	0	0	449	595	21	4	1955	4	AKAP13	15	86123232	Nonsense_Mutation	SNP	C	TCGA-DS-A7WI-01A-12D-A351-09	38064423	86123232	16408160	18	10265										
XYLT1	64131	genome.wustl.edu	37	chr16	17353101	17353101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ttggctgcggctctgtccccGggaggcagcacctcaccggg	15	15	2	0	rs146043560	byFrequency	TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr16:17353101G>A	ENST00000261381.6	-	3	741	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	219					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTGTCCCCGGGAGGCAGCA	0.587																																																	0								G		0,4394		0,0,2197	105	118	114		657	-10.9	0	16	dbSNP_134	114	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	XYLT1	NM_022166.3		0,3,6494	AA,AG,GG		0.0349,0.0,0.0231		219/960	17353101	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.657C>T	16.37:g.17353101G>A			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.P219	ENST00000261381.6	37	c.657	CCDS10569.1	16																																																																																			XYLT1	-	NULL		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	G	NM_022166		17353101	-1	no_errors	ENST00000261381	ensembl	human	known	70_37	silent	SNP	0.000	A	A	17353101	G	A	17353101	2	1	68	1	0	0	0	0	0	0	0	1	17494	1103	39	2		2	XYLT1	16	17353101	Silent	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		17353101	73001652	19	10266										
GTF3C1	2975	genome.wustl.edu	37	chr16	27472852	27472852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gccttggctttctcagccagCgcttccggatgcagccgagg	13	14	1	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr16:27472852C>T	ENST00000356183.4	-	37	6164	c.6149G>A	c.(6148-6150)cGc>cAc	p.R2050H	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.R2025H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2050					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTCAGCCAGCGCTTCCGGAT	0.587																																																	0													77	67	70					16																	27472852		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6149G>A	16.37:g.27472852C>T	ENSP00000348510:p.Arg2050His		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R2050H	ENST00000356183.4	37	c.6149	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596512	0.46318	.	.	ENSG00000077235	ENST00000356183	T	0.23754	1.89	5.12	4.11	0.48088	.	0.909776	0.09641	N	0.775005	T	0.30386	0.0763	L	0.40543	1.245	0.09310	N	1	P;D	0.57899	0.654;0.981	B;P	0.51582	0.058;0.674	T	0.07790	-1.0754	10	0.36615	T	0.2	-10.6528	9.5079	0.39058	0.3098:0.6902:0.0:0.0	.	2050;2025	Q12789;Q12789-3	TF3C1_HUMAN;.	H	2050	ENSP00000348510:R2050H	ENSP00000348510:R2050H	R	-	2	0	GTF3C1	27380353	0.451000	0.25705	0.020000	0.16555	0.198000	0.23893	2.299000	0.43611	2.393000	0.81446	0.556000	0.70494	CGC	GTF3C1	-	NULL		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27472852	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.007	T	T	27472852	C	T	27472852	3	4	68	1	0	0	0	0	1	0	0	0	6892	768	27	2	184	2	GTF3C1	16	27472852	Missense_Mutation	SNP	C	TCGA-DS-A7WI-01A-12D-A351-09	10119751	27472852	62881901	20	10267										
RLTPR	146206	genome.wustl.edu	37	chr16	67685598	67685598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ctttgtctaggacttcactcAggccacactggacacagcaa	8	13	3	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr16:67685598A>G	ENST00000334583.6	+	25	2766	c.2438A>G	c.(2437-2439)cAg>cGg	p.Q813R	RLTPR_ENST00000545661.1_Missense_Mutation_p.Q777R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	813					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GACTTCACTCAGGCCACACTG	0.592																																																	0													13	15	14					16																	67685598		2089	4233	6322	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2438A>G	16.37:g.67685598A>G	ENSP00000334958:p.Gln813Arg		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Q813R	ENST00000334583.6	37	c.2438	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073945	0.76415	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.15487	2.42;2.43	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000003	T	0.34077	0.0885	L	0.51422	1.61	0.34378	D	0.692807	D;D	0.60160	0.987;0.985	D;P	0.67725	0.953;0.637	T	0.49399	-0.8944	10	0.87932	D	0	-22.0856	12.7681	0.57403	1.0:0.0:0.0:0.0	.	777;813	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	R	813;777	ENSP00000334958:Q813R;ENSP00000441481:Q777R	ENSP00000334958:Q813R	Q	+	2	0	RLTPR	66243099	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.273000	0.58914	2.028000	0.59812	0.533000	0.62120	CAG	RLTPR	-	NULL		0.592	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	A	NM_001013838		67685598	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67685598	A	G	67685598	3	3	68	1	0	0	0	0	1	0	0	0	13424	188	7	5	2536	5	RLTPR	16	67685598	Missense_Mutation	SNP	A	TCGA-DS-A7WI-01A-12D-A351-09	40212746	67685598	22669155	21	10268										
BCL6B	255877	genome.wustl.edu	37	chr17	6930847	6930847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	cccctgtggcctgcatttccGgcacaagagtcaactgcggc	11	15	1	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr17:6930847G>A	ENST00000293805.5	+	9	1441	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	450					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CTGCATTTCCGGCACAAGAGT	0.612																																																	0													44	51	49					17																	6930847		2074	4212	6286	SO:0001583	missense	255877			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1349G>A	17.37:g.6930847G>A	ENSP00000293805:p.Arg450Gln		Q6PCB4	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R450Q	ENST00000293805.5	37	c.1349	CCDS42248.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.235127	0.95207	.	.	ENSG00000161940	ENST00000293805	T	0.35789	1.29	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	L	0.45352	1.415	0.53688	D	0.999975	D	0.89917	1.0	D	0.76071	0.987	T	0.34625	-0.9821	10	0.27785	T	0.31	.	16.8115	0.85722	0.0:0.0:1.0:0.0	.	450	Q8N143	BCL6B_HUMAN	Q	450	ENSP00000293805:R450Q	ENSP00000293805:R450Q	R	+	2	0	BCL6B	6871571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.334000	0.96470	2.584000	0.87258	0.462000	0.41574	CGG	BCL6B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6B	HGNC	protein_coding	OTTHUMT00000439455.2	G	NM_181844		6930847	1	no_errors	ENST00000293805	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6930847	G	A	6930847	3	1	68	1	0	0	0	0	1	0	0	0	1378	1116	39	2	1379	2	BCL6B	17	6930847	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		6930847	74264363	22	10269										
MYH3	4621	genome.wustl.edu	37	chr17	10547729	10547729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	agtgttgtcttggaagcttcGtatccagttgctggttaatg	12	6	1	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr17:10547729G>A	ENST00000583535.1	-	14	1436	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	MYH3_ENST00000226209.7_Missense_Mutation_p.T450M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGAAGCTTCGTATCCAGTTG	0.383																																																	0													140	136	138					17																	10547729		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1349C>T	17.37:g.10547729G>A	ENSP00000464317:p.Thr450Met		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T450M	ENST00000583535.1	37	c.1349	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	g	19.97	3.924482	0.73213	.	.	ENSG00000109063	ENST00000226209	D	0.87571	-2.27	4.5	4.5	0.54988	Myosin head, motor domain (2);	.	.	.	.	D	0.95223	0.8451	M	0.93763	3.455	0.50467	D	0.999877	D	0.89917	1.0	D	0.85130	0.997	D	0.96450	0.9333	9	0.87932	D	0	.	17.7575	0.88453	0.0:0.0:1.0:0.0	.	450	P11055	MYH3_HUMAN	M	450	ENSP00000226209:T450M	ENSP00000226209:T450M	T	-	2	0	MYH3	10488454	1.000000	0.71417	0.740000	0.30986	0.586000	0.36452	9.598000	0.98277	2.496000	0.84212	0.558000	0.71614	ACG	MYH3	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.383	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10547729	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10547729	G	A	10547729	3	1	68	1	0	0	0	0	1	0	0	0	10059	1145	40	2	4585	2	MYH3	17	10547729	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	3616882	10547729	70647481	23	10270										
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13504142	13504142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	cgccgtcgtcgcggggcgcgGgcggccggcgcctccgccac	18	19	0	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr17:13504142G>T	ENST00000284110.1	-	1	1102	c.305C>A	c.(304-306)cCc>cAc	p.P102H		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	102					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		gcggggcgcgggcggccggcg	0.781																																																	0													1	1	1					17																	13504142		496	1239	1735	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.305C>A	17.37:g.13504142G>T	ENSP00000284110:p.Pro102His		A8K7N2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.P102H	ENST00000284110.1	37	c.305	CCDS11165.1	17	.	.	.	.	.	.	.	.	.	.	G	10.08	1.250972	0.22880	.	.	ENSG00000153976	ENST00000284110	T	0.46451	0.87	3.72	1.58	0.23477	.	1.712030	0.05352	U	0.531977	T	0.29976	0.0750	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.35251	-0.9796	10	0.87932	D	0	.	10.3301	0.43818	0.0:0.0:0.6442:0.3558	.	102	Q9Y663	HS3SA_HUMAN	H	102	ENSP00000284110:P102H	ENSP00000284110:P102H	P	-	2	0	HS3ST3A1	13444867	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.386000	0.20702	0.281000	0.22233	-0.314000	0.08810	CCC	HS3ST3A1	-	NULL		0.781	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	G	NM_006042		13504142	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	missense	SNP	0.001	T	T	13504142	G	T	13504142	3	4	68	1	0	0	0	0	1	0	0	0	7385	1232	43	4	923	4	HS3ST3A1	17	13504142	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	2956413	13504142	67691068	24	10271										
INSR	3643	genome.wustl.edu	37	chr19	7172413	7172413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	tgaaatttcttcaatgaggcCgaggttggcttctagctcag	11	8	4	2			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr19:7172413C>T	ENST00000302850.5	-	5	1298	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	INSR_ENST00000341500.5_Missense_Mutation_p.G386S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	386			G -> S (in RMS; may impair receptor processing). {ECO:0000269|PubMed:17201797}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G386C(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCAATGAGGCCGAGGTTGGCT	0.448																																																	1	Substitution - Missense(1)	lung(1)	GRCh37	CM070168	INSR	M							140	128	132					19																	7172413		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1156G>A	19.37:g.7172413C>T	ENSP00000303830:p.Gly386Ser		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G386S	ENST00000302850.5	37	c.1156	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	30	5.051572	0.93793	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.78126	-1.15;-1.15	5.12	5.12	0.69794	EGF receptor, L domain (1);	0.000000	0.46758	D	0.000265	D	0.83482	0.5264	L	0.48877	1.53	0.80722	D	1	D;D;D	0.67145	0.995;0.995;0.996	D;D;D	0.69142	0.912;0.952;0.962	T	0.82462	-0.0445	10	0.37606	T	0.19	.	16.0778	0.80979	0.0:1.0:0.0:0.0	.	377;386;386	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	S	386	ENSP00000303830:G386S;ENSP00000342838:G386S	ENSP00000303830:G386S	G	-	1	0	INSR	7123413	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	7.459000	0.80802	2.397000	0.81536	0.561000	0.74099	GGC	INSR	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt		0.448	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	C			7172413	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7172413	C	T	7172413	3	4	68	1	0	0	0	0	1	0	0	0	7793	652	23	2	3064	2	INSR	19	7172413	Missense_Mutation	SNP	C	TCGA-DS-A7WI-01A-12D-A351-09		7172413	51956570	25	10272										
ZNF442	79973	genome.wustl.edu	37	chr19	12461054	12461054	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gtgagttgtttcatgtcttcGaagggaactagaaatacgga	12	5	2	2	rs372883273		TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr19:12461054G>A	ENST00000242804.4	-	6	1927	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	ZNF442_ENST00000438182.1_Nonsense_Mutation_p.R380*|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCATGTCTTCGAAGGGAACTA	0.368																																																	0								G	stop/ARG	0,4406		0,0,2203	70	75	73		1345	-0.5	0	19		73	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZNF442	NM_030824.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		449/628	12461054	1,13005	2203	4300	6503	SO:0001587	stop_gained	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1345C>T	19.37:g.12461054G>A	ENSP00000242804:p.Arg449*		B4DJ48	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R449*	ENST00000242804.4	37	c.1345	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606178	0.46527	0.0	1.16E-4	ENSG00000198342	ENST00000242804;ENST00000438182	.	.	.	0.832	-0.474	0.12108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	2.8609	0.05586	0.0:0.3092:0.3809:0.3099	.	.	.	.	X	449;380	.	ENSP00000242804:R449X	R	-	1	2	ZNF442	12322054	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.609000	0.02066	-0.114000	0.11936	0.313000	0.20887	CGA	ZNF442	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	G	NM_030824		12461054	-1	no_errors	ENST00000242804	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	12461054	G	A	12461054	4	1	68	1	0	0	0	0	0	1	0	0	17945	1066	37	1	542	1	ZNF442	19	12461054	Nonsense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	5288641	12461054	46667929	26	10273										
TSHZ3	57616	genome.wustl.edu	37	chr19	31770279	31770279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ttgttcttctccgaggagggCtggtgcaggttgaggttgag	17	6	2	2			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr19:31770279C>T	ENST00000240587.4	-	2	747	c.420G>A	c.(418-420)caG>caA	p.Q140Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	140					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCGAGGAGGGCTGGTGCAGGT	0.587																																																	0													97	101	100					19																	31770279		2199	4290	6489	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.420G>A	19.37:g.31770279C>T			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q140	ENST00000240587.4	37	c.420	CCDS12421.2	19																																																																																			TSHZ3	-	NULL		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	C	NM_020856		31770279	-1	no_errors	ENST00000240587	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31770279	C	T	31770279	2	4	68	1	0	0	0	0	0	0	0	1	16656	796	28	4		4	TSHZ3	19	31770279	Silent	SNP	C	TCGA-DS-A7WI-01A-12D-A351-09	19309225	31770279	27358704	27	10274										
ZNF529	57711	genome.wustl.edu	37	chr19	37039059	37039059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gactgaaatatcccacttcaGgtccttgtaagtcaatcttg	7	10	3	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr19:37039059G>A	ENST00000591340.1	-	5	559	c.401C>T	c.(400-402)cCt>cTt	p.P134L	ZNF529_ENST00000334116.7_Missense_Mutation_p.P29L	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					TCCCACTTCAGGTCCTTGTAA	0.398																																																	0													105	91	95					19																	37039059		1868	4097	5965	SO:0001583	missense	57711			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.401C>T	19.37:g.37039059G>A	ENSP00000465578:p.Pro134Leu		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P134L	ENST00000591340.1	37	c.401	CCDS54256.1	19	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028078	0.35797	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.83	0.0183	0.14116	.	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.09310	N	1	B;B	0.27679	0.185;0.116	B;B	0.29716	0.106;0.033	T	0.25710	-1.0124	8	0.25106	T	0.35	.	6.3254	0.21240	0.0934:0.0:0.5869:0.3197	.	29;101	Q6P280-2;Q6P280	.;ZN529_HUMAN	L	134	.	ENSP00000334695:P134L	P	-	2	0	ZNF529	41730899	0.000000	0.05858	0.346000	0.25655	0.146000	0.21551	-0.287000	0.08388	0.265000	0.21872	0.591000	0.81541	CCT	ZNF529	-	NULL		0.398	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	HGNC	protein_coding	OTTHUMT00000452730.1	G	NM_020951		37039059	-1	no_errors	ENST00000591340	ensembl	human	known	70_37	missense	SNP	0.071	A	A	37039059	G	A	37039059	3	1	68	1	0	0	0	0	1	0	0	0	18000	1000	35	4	1294	4	ZNF529	19	37039059	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	5268780	37039059	22089924	28	10275										
BPIL2	254240	genome.wustl.edu	37	chr22	32853350	32853350	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	aggaggaaacatccccagagGactgggattgtctttgtaca	12	8	1	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr22:32853350G>T	ENST00000397452.1	-	2	134	c.24C>A	c.(22-24)gtC>gtA	p.V8V	BPIFC_ENST00000397450.1_Silent_p.V8V|BPIFC_ENST00000300399.3_Silent_p.V8V|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	8						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										ATCCCCAGAGGACTGGGATTG	0.403											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													117	110	113					22																	32853350		2203	4300	6503	SO:0001819	synonymous_variant	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.24C>A	22.37:g.32853350G>T		835	A2RRF1	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.V8	ENST00000397452.1	37	c.24	CCDS13906.1	22																																																																																			BPIFC	-	NULL		0.403	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	G	NM_174932		32853350	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	silent	SNP	0.048	T	T	32853350	G	T	32853350	2	4	68	1	0	0	0	0	0	0	0	1	1495	1161	41	3		3	BPIL2	22	32853350	Silent	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		32853350	18451216	29	10276										
WNT7B	7477	genome.wustl.edu	37	chr22	46319122	46319122	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	cagcaggtggcccacctctcGgaacttgggcagcgtggtcc	14	14	1	0			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chr22:46319122G>A	ENST00000339464.4	-	4	1038	c.664C>T	c.(664-666)Cga>Tga	p.R222*	WNT7B_ENST00000410089.1_Nonsense_Mutation_p.R206*|WNT7B_ENST00000409496.3_Nonsense_Mutation_p.R226*	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	222					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCTCTCGGAACTTGGGC	0.652																																																	0													42	43	43					22																	46319122		2203	4299	6502	SO:0001587	stop_gained	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.664C>T	22.37:g.46319122G>A	ENSP00000341032:p.Arg222*		B8A596|Q96Q12	Nonsense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R222*	ENST00000339464.4	37	c.664	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	39	7.474962	0.98306	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	.	.	.	3.18	3.18	0.36537	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9192	0.41453	0.0:0.0:0.78:0.22	.	.	.	.	X	222;206;226	.	ENSP00000341032:R222X	R	-	1	2	WNT7B	44697786	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.618000	0.46393	1.493000	0.48517	0.305000	0.20034	CGA	WNT7B	-	pfam_Wnt,smart_Wnt		0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	G	NM_058238		46319122	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46319122	G	A	46319122	4	1	68	1	0	0	0	0	0	1	0	0	17426	1124	39	2	389	2	WNT7B	22	46319122	Nonsense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	13465772	46319122	4985444	30	10277										
NLGN4X	57502	genome.wustl.edu	37	chrX	6069278	6069278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	cagtggggggtgaggcatagGggacccctaagtactgctcc	16	10	0	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chrX:6069278G>T	ENST00000381095.3	-	2	857	c.230C>A	c.(229-231)cCc>cAc	p.P77H	NLGN4X_ENST00000381093.2_Missense_Mutation_p.P77H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P77H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P77H|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P77H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	77					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGAGGCATAGGGGACCCCTAA	0.547																																																	0													82	74	77					X																	6069278		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.230C>A	X.37:g.6069278G>T	ENSP00000370485:p.Pro77His		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P77H	ENST00000381095.3	37	c.230	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553653	0.86231	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	4.2	4.2	0.49525	Carboxylesterase, type B (1);	.	.	.	.	D	0.93818	0.8023	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96325	0.9239	9	0.87932	D	0	.	15.0265	0.71674	0.0:0.0:1.0:0.0	.	77;77;77	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	77	ENSP00000370485:P77H;ENSP00000370483:P77H;ENSP00000275857:P77H;ENSP00000370482:P77H;ENSP00000439203:P77H	ENSP00000275857:P77H	P	-	2	0	NLGN4X	6079278	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	8.047000	0.89440	1.719000	0.51432	0.600000	0.82982	CCC	NLGN4X	-	pfam_CarbesteraseB		0.547	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		6069278	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6069278	G	T	6069278	3	4	68	1	0	0	0	0	1	0	0	0	10488	1232	43	4	2240	4	NLGN4X	23	6069278	Missense_Mutation	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09		6069278	149201282	31	10278										
SHROOM2	357	genome.wustl.edu	37	chrX	9864525	9864526	+	Missense_Mutation	DNP	GA	GA	TG													0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	aacgctcacagcgcagcggaGaaggcagggacttcagacct							TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chrX:9864525_9864526GA>TG	ENST00000380913.3	+	4	2667_2668	c.2577_2578GA>TG	c.(2575-2580)gaGAag>gaTGag	p.859_860EK>DE		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	859					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCGCAGCGGAGAAGGCAGGGAC	0.658																																																	0																																										SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	Exception_encountered	X.37:g.9864525_9864526delinsTG	ENSP00000370299:p.E859_K860delinsDE		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E859D|p.K860E	ENST00000380913.3	37	c.2577|c.2578	CCDS14135.1	X																																																																																			SHROOM2	-	NULL		0.658	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	G|A	NM_001649		9864525|9864526	1	no_errors	ENST00000380913	ensembl	human	known	70_37	missense	SNP	0.000	T|G	TG	9864526	GA	TG	9864525	3	4	68	1	0	0	0	0	1	0	0	0	14324	933	33	3	2591	3	SHROOM2	23	9864525	Missense_Mutation	DNP	GA	TCGA-DS-A7WI-01A-12D-A351-09	3795247	9864525	145406035	32	10279										
DLG3	1741	genome.wustl.edu	37	chrX	69670051	69670051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	gcattgctgggggtattggcAaccagcacatcccaggagac	13	11	0	1			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chrX:69670051A>C	ENST00000374360.3	+	5	969	c.736A>C	c.(736-738)Aac>Cac	p.N246H	DLG3_ENST00000194900.4_Missense_Mutation_p.N264H|DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000424211.1_RNA|RNU4-81P_ENST00000363561.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	246	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGTATTGGCAACCAGCACAT	0.567																																																	0													52	40	44					X																	69670051		2203	4300	6503	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.736A>C	X.37:g.69670051A>C	ENSP00000363480:p.Asn246His		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.N264H	ENST00000374360.3	37	c.790	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895574	0.72639	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.28069	1.63;1.63	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.71870	0.975	T	0.42749	-0.9433	9	.	.	.	.	12.1544	0.54068	1.0:0.0:0.0:0.0	.	246	Q92796	DLG3_HUMAN	H	264;246	ENSP00000194900:N264H;ENSP00000363480:N246H	.	N	+	1	0	DLG3	69586776	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.648000	0.91062	1.658000	0.50742	0.356000	0.21956	AAC	DLG3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.567	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	A	NM_021120		69670051	1	no_errors	ENST00000194900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69670051	A	C	69670051	3	2	68	1	0	0	0	0	1	0	0	0	4566	130	5	5	754	5	DLG3	23	69670051	Missense_Mutation	SNP	A	TCGA-DS-A7WI-01A-12D-A351-09	59805526	69670051	85600509	33	10280										
STAG2	10735	genome.wustl.edu	37	chrX	123195682	123195682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	0.961384738339785	0.478796169630643	8.13953488372093	0	1	1	0	ctttgtaccattagacaagcGgctgaatgtcatcctcccgt	8	12	1	2			TCGA-DS-A7WI-01A-12D-A351-09	TCGA-DS-A7WI-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4167b53e-960b-412e-b556-4fe236a9c990	e8d9f25c-40cd-4e8c-943b-5f44a8284476	g.chrX:123195682G>A	ENST00000371160.1	+	17	1886	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	STAG2_ENST00000218089.9_Silent_p.A532A|STAG2_ENST00000371157.3_Silent_p.A532A|STAG2_ENST00000371144.3_Silent_p.A532A|STAG2_ENST00000371145.3_Silent_p.A532A|STAG2_ENST00000354548.5_Silent_p.A463A|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	532					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTAGACAAGCGGCTGAATGTC	0.358																																																	0													68	67	68					X																	123195682		2203	4300	6503	SO:0001819	synonymous_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1596G>A	X.37:g.123195682G>A			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A532	ENST00000371160.1	37	c.1596	CCDS14607.1	X																																																																																			STAG2	-	superfamily_ARM-type_fold		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	G	NM_006603		123195682	1	no_errors	ENST00000218089	ensembl	human	known	70_37	silent	SNP	0.963	A	A	123195682	G	A	123195682	2	1	68	1	0	0	0	0	0	0	0	1	15273	1103	39	2		2	STAG2	23	123195682	Silent	SNP	G	TCGA-DS-A7WI-01A-12D-A351-09	53525631	123195682	32074878	34	10281										
ZBTB17	7709	genome.wustl.edu	37	chr1	16268666	16268666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gtgcctgggctgtgtggattCgcacatgctgagccaggctg	16	10	0	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:16268666C>T	ENST00000375743.4	-	16	2442	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.R655Q|ZBTB17_ENST00000375733.2_Missense_Mutation_p.R744Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	737	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGGATTCGCACATGCTG	0.607																																																	0													83	74	77					1																	16268666		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2210G>A	1.37:g.16268666C>T	ENSP00000364895:p.Arg737Gln		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R744Q	ENST00000375743.4	37	c.2231	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739250	0.89573	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.15952	2.4;2.38;2.48	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.35307	0.0927	L	0.61036	1.89	0.80722	D	1	D;D;D	0.71674	0.987;0.993;0.998	P;P;P	0.60949	0.56;0.756;0.881	T	0.06409	-1.0828	10	0.72032	D	0.01	.	13.9936	0.64382	0.0:0.9246:0.0:0.0754	.	744;655;737	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	Q	737;744;656;655	ENSP00000364895:R737Q;ENSP00000364885:R744Q;ENSP00000438529:R655Q	ENSP00000364885:R744Q	R	-	2	0	ZBTB17	16141253	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.564000	0.60830	2.393000	0.81446	0.563000	0.77884	CGA	ZBTB17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16268666	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16268666	C	T	16268666	3	4	69	1	0	0	0	0	1	0	0	0	17557	884	31	1	205	1	ZBTB17	1	16268666	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09		16268666	232981955	1	10282										
KDM1A	23028	genome.wustl.edu	37	chr1	23381588	23381588	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	ctgtgcttgtccaccgagttCacagttatttagagcgtcat	9	10	2	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:23381588C>A	ENST00000356634.3	+	5	906	c.757C>A	c.(757-759)Cac>Aac	p.H253N	KDM1A_ENST00000542151.1_Missense_Mutation_p.H273N|KDM1A_ENST00000400181.4_Missense_Mutation_p.H273N|RP1-184J9.2_ENST00000427154.1_RNA|MIR4419A_ENST00000583845.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	253	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|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)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTT	0.373																																																	0													215	212	213					1																	23381588		2203	4300	6503	SO:0001583	missense	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.757C>A	1.37:g.23381588C>A	ENSP00000349049:p.His253Asn		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.H273N	ENST00000356634.3	37	c.817	CCDS30627.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699555	0.88830	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.35973	1.3;1.28;1.28	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68239	-0.5461	10	0.72032	D	0.01	-24.0898	18.3338	0.90280	0.0:1.0:0.0:0.0	.	273;253	O60341-2;O60341	.;KDM1A_HUMAN	N	253;273;273	ENSP00000349049:H253N;ENSP00000383042:H273N;ENSP00000439072:H273N	ENSP00000349049:H253N	H	+	1	0	KDM1A	23254175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.954000	0.70298	2.650000	0.89964	0.655000	0.94253	CAC	KDM1A	-	pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM		0.373	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	C	NM_015013		23381588	1	no_errors	ENST00000542151	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23381588	C	A	23381588	3	1	69	1	0	0	0	0	1	0	0	0	8142	826	29	3	839	3	KDM1A	1	23381588	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	7112922	23381588	225869033	2	10283										
ATP8B2	57198	genome.wustl.edu	37	chr1	154320997	154320997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	tcctcaggctcaacctgaagCcggatctctccgacacggtg	10	15	3	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:154320997C>A	ENST00000368489.3	+	27	3376	c.3376C>A	c.(3376-3378)Ccg>Acg	p.P1126T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1112					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAACCTGAAGCCGGATCTCTC	0.617																																																	0													77	66	69					1																	154320997		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3376C>A	1.37:g.154320997C>A	ENSP00000357475:p.Pro1126Thr		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.P1126T	ENST00000368489.3	37	c.3376	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824601	0.71143	.	.	ENSG00000143515	ENST00000368489	D	0.94000	-3.33	4.64	4.64	0.57946	.	0.142736	0.46758	D	0.000263	D	0.95338	0.8487	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95471	0.8551	10	0.87932	D	0	.	9.94	0.41574	0.0:0.9059:0.0:0.0941	.	1126	P98198-3	.	T	1126	ENSP00000357475:P1126T	ENSP00000357475:P1126T	P	+	1	0	ATP8B2	152587621	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	5.321000	0.65846	2.406000	0.81754	0.491000	0.48974	CCG	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl		0.617	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	C	NM_020452		154320997	1	no_errors	ENST00000368489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154320997	C	A	154320997	3	1	69	1	0	0	0	0	1	0	0	0	1196	739	26	4	3612	4	ATP8B2	1	154320997	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	130939409	154320997	94929624	3	10284										
RYR2	6262	genome.wustl.edu	37	chr1	237532889	237532889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cggacatgccatattgctgcGccattcctatagtggcatgg	11	11	0	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:237532889G>A	ENST00000366574.2	+	6	682	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RYR2_ENST00000360064.6_Missense_Mutation_p.R120H|RYR2_ENST00000542537.1_Missense_Mutation_p.R106H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	122	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R120H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATTGCTGCGCCATTCCTAT	0.463																																																	1	Substitution - Missense(1)	central_nervous_system(1)											151	125	133					1																	237532889		1967	4162	6129	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.365G>A	1.37:g.237532889G>A	ENSP00000355533:p.Arg122His		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R120H	ENST00000366574.2	37	c.359	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.316181	0.95655	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93659	-3.26;-3.26;-3.26	5.55	5.55	0.83447	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	D	0.000004	D	0.96738	0.8935	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.96962	0.9702	10	0.87932	D	0	.	18.6233	0.91328	0.0:0.0:1.0:0.0	.	122	Q92736	RYR2_HUMAN	H	122;120;106	ENSP00000355533:R122H;ENSP00000353174:R120H;ENSP00000443798:R106H	ENSP00000353174:R120H	R	+	2	0	RYR2	235599512	1.000000	0.71417	0.952000	0.39060	0.919000	0.55068	9.386000	0.97228	2.755000	0.94549	0.655000	0.94253	CGC	RYR2	-	pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237532889	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237532889	G	A	237532889	3	1	69	1	0	0	0	0	1	0	0	0	13799	1087	38	2	387	2	RYR2	1	237532889	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09	83211892	237532889	11717732	4	10285										
RYR2	6262	genome.wustl.edu	37	chr1	237758810	237758810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	aaattcagcatcaaacgcagCaactgctatatggtatgtgc	8	9	2	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:237758810C>A	ENST00000366574.2	+	34	4766	c.4449C>A	c.(4447-4449)agC>agA	p.S1483R	RYR2_ENST00000360064.6_Missense_Mutation_p.S1481R|RYR2_ENST00000542537.1_Missense_Mutation_p.S1467R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1483	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAAACGCAGCAACTGCTATA	0.448																																																	0													80	83	82					1																	237758810		2020	4176	6196	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4449C>A	1.37:g.237758810C>A	ENSP00000355533:p.Ser1483Arg		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S1481R	ENST00000366574.2	37	c.4443	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414680	0.25465	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60424	0.19;0.19;0.19	5.0	5.0	0.66597	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.063755	0.64402	D	0.000018	T	0.56001	0.1956	L	0.39633	1.23	0.80722	D	1	P	0.52692	0.955	P	0.51701	0.677	T	0.48833	-0.9000	10	0.24483	T	0.36	-16.0796	11.8831	0.52586	0.0:0.9205:0.0:0.0795	.	1483	Q92736	RYR2_HUMAN	R	1483;1481;1467	ENSP00000355533:S1483R;ENSP00000353174:S1481R;ENSP00000443798:S1467R	ENSP00000353174:S1481R	S	+	3	2	RYR2	235825433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	2.598000	0.87819	0.655000	0.94253	AGC	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237758810	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237758810	C	A	237758810	3	1	69	1	0	0	0	0	1	0	0	0	13799	709	25	4	4583	4	RYR2	1	237758810	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	225921	237758810	11491811	5	10286										
TTN	7273	genome.wustl.edu	37	chr2	179579022	179579022	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	atcatctttttactaaccgaGaacggatagcgtggcgaagc	10	9	2	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr2:179579022G>A	ENST00000591111.1	-	89	25752	c.25528C>T	c.(25528-25530)Ctc>Ttc	p.L8510F	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L8827F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L7583F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12674					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTAACCGAGAACGGATAGC	0.388																																																	0													130	126	128					2																	179579022		1918	4129	6047	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25528C>T	2.37:g.179579022G>A	ENSP00000465570:p.Leu8510Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L7583F	ENST00000591111.1	37	c.22747		2	.	.	.	.	.	.	.	.	.	.	G	7.304	0.613560	0.14066	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	5.96	5.08	0.68730	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67429	0.2892	M	0.86805	2.84	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.72603	-0.4243	9	0.87932	D	0	.	11.5778	0.50873	0.136:0.0:0.8639:0.0	.	8510	Q8WZ42	TITIN_HUMAN	F	7583	ENSP00000343764:L7583F	ENSP00000343764:L7583F	L	-	1	0	TTN	179287267	1.000000	0.71417	0.471000	0.27229	0.027000	0.11550	2.853000	0.48317	2.832000	0.97577	0.655000	0.94253	CTC	TTN	-	superfamily_RNaseH-like_dom,smart_Ig_sub		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179579022	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.956	A	A	179579022	G	A	179579022	3	1	69	1	0	0	0	0	1	0	0	0	16766	942	33	1	78138	1	TTN	2	179579022	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		179579022	63620351	6	10287										
SLC6A11	6538	genome.wustl.edu	37	chr3	10858057	10858057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cagcgggggcgcggcgcccgCgcgccacccgcgcgtcaagc	17	19	1	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:10858057C>T	ENST00000254488.2	+	1	173	c.107C>T	c.(106-108)gCg>gTg	p.A36V	SLC6A11_ENST00000454147.1_Missense_Mutation_p.A36V	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	36					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	gcggcgcccgcgcgccacccg	0.736																																																	0													9	7	8					3																	10858057		2123	4115	6238	SO:0001583	missense	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.107C>T	3.37:g.10858057C>T	ENSP00000254488:p.Ala36Val		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.A36V	ENST00000254488.2	37	c.107	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344919	0.11126	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.74106	-0.81;-0.4	2.23	0.344	0.16006	.	1.112630	0.07194	U	0.856267	T	0.49270	0.1547	N	0.08118	0	0.20196	N	0.99992	B	0.10296	0.003	B	0.06405	0.002	T	0.28170	-1.0052	10	0.23891	T	0.37	.	2.9602	0.05890	0.0:0.454:0.2389:0.3071	.	36	P48066	S6A11_HUMAN	V	36	ENSP00000254488:A36V;ENSP00000404120:A36V	ENSP00000254488:A36V	A	+	2	0	SLC6A11	10833057	0.940000	0.31905	0.179000	0.23059	0.237000	0.25408	0.000000	0.12993	0.069000	0.16605	0.205000	0.17691	GCG	SLC6A11	-	NULL		0.736	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	C	NM_014229		10858057	1	no_errors	ENST00000254488	ensembl	human	known	70_37	missense	SNP	0.663	T	T	10858057	C	T	10858057	3	4	69	1	0	0	0	0	1	0	0	0	14704	768	27	2	109	2	SLC6A11	3	10858057	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09		10858057	187164373	7	10288										
CCDC13	152206	genome.wustl.edu	37	chr3	42794151	42794151	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	tctgccatcaacagccggttCttttttgatagctccacaat	6	12	3	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:42794151C>G	ENST00000310232.6	-	4	512	c.429G>C	c.(427-429)aaG>aaC	p.K143N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	143										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACAGCCGGTTCTTTTTTGATA	0.522																																																	0													115	108	110					3																	42794151		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.429G>C	3.37:g.42794151C>G	ENSP00000309836:p.Lys143Asn			Missense_Mutation	SNP	superfamily_Prefoldin	p.K143N	ENST00000310232.6	37	c.429	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437430	0.83885	.	.	ENSG00000244607	ENST00000310232	T	0.47869	0.83	5.91	5.91	0.95273	.	0.183542	0.56097	D	0.000025	T	0.66147	0.2760	M	0.83953	2.67	0.58432	D	0.999991	D;D;D	0.67145	0.996;0.989;0.977	P;P;P	0.59948	0.866;0.787;0.787	T	0.67643	-0.5618	10	0.45353	T	0.12	.	12.4051	0.55434	0.0:0.9224:0.0:0.0776	.	143;143;143	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	N	143	ENSP00000309836:K143N	ENSP00000309836:K143N	K	-	3	2	CCDC13	42769155	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.893000	0.56243	2.813000	0.96785	0.655000	0.94253	AAG	CCDC13	-	NULL		0.522	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	C	NM_144719		42794151	-1	no_errors	ENST00000310232	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42794151	C	G	42794151	3	3	69	1	0	0	0	0	1	0	0	0	2770	912	32	1	1770	1	CCDC13	3	42794151	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	31936094	42794151	155228279	8	10289										
IP6K2	51447	genome.wustl.edu	37	chr3	48725981	48725981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	ttcgggccgctccttgccatCataaatgaccagcagggagc	11	13	1	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:48725981C>T	ENST00000328631.5	-	6	1229	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	336					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCTTGCCATCATAAATGACC	0.557																																																	0													87	80	82					3																	48725981		2203	4300	6503	SO:0001583	missense	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.1006G>A	3.37:g.48725981C>T	ENSP00000331103:p.Asp336Asn		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	pfam_IPK	p.D336N	ENST00000328631.5	37	c.1006	CCDS2777.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801030	0.90538	.	.	ENSG00000068745	ENST00000328631	T	0.26223	1.75	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71283	-0.4639	10	0.66056	D	0.02	-0.9318	14.6975	0.69132	0.0:0.9303:0.0:0.0697	.	336	Q9UHH9	IP6K2_HUMAN	N	336	ENSP00000331103:D336N	ENSP00000331103:D336N	D	-	1	0	IP6K2	48700985	1.000000	0.71417	0.955000	0.39395	0.980000	0.70556	7.818000	0.86416	1.367000	0.46095	0.655000	0.94253	GAT	IP6K2	-	pfam_IPK		0.557	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	C	NM_016291		48725981	-1	no_errors	ENST00000328631	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48725981	C	T	48725981	3	4	69	1	0	0	0	0	1	0	0	0	7809	826	29	1	278	1	IP6K2	3	48725981	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	5931830	48725981	149296449	9	10290										
PRR23C	389152	genome.wustl.edu	37	chr3	138763254	138763254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cgacgtcctccaggggcacaCgcagggcacagcccgcgtcc	13	18	0	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:138763254C>T	ENST00000413199.1	-	1	480	c.209G>A	c.(208-210)cGt>cAt	p.R70H	PRR23C_ENST00000502927.2_Missense_Mutation_p.R70H|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	70										breast(2)|lung(7)|skin(2)	11						CAGGGGCACACGCAGGGCACA	0.706																																																	0													15	20	19					3																	138763254		691	1590	2281	SO:0001583	missense	389152				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.209G>A	3.37:g.138763254C>T	ENSP00000396648:p.Arg70His			Missense_Mutation	SNP	pfam_UPF0572	p.R70H	ENST00000413199.1	37	c.209	CCDS46924.1	3	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841783	0.32513	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.16	0.28	0.15682	.	1.768580	0.03219	N	0.177240	T	0.32496	0.0831	L	0.47716	1.5	0.09310	N	1	D	0.54207	0.965	P	0.46585	0.521	T	0.18178	-1.0345	9	0.15499	T	0.54	.	2.5952	0.04852	0.2279:0.1345:0.0:0.6376	.	70	Q6ZRP0	PR23C_HUMAN	H	70	.	ENSP00000396648:R70H	R	-	2	0	PRR23C	140245944	0.196000	0.23350	0.017000	0.16124	0.003000	0.03518	0.826000	0.27407	0.119000	0.18210	-0.680000	0.03767	CGT	PRR23C	-	pfam_UPF0572		0.706	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	HGNC	protein_coding	OTTHUMT00000361502.1	C	NM_001134657		138763254	-1	no_errors	ENST00000413199	ensembl	human	known	70_37	missense	SNP	0.017	T	T	138763254	C	T	138763254	3	4	69	1	0	0	0	0	1	0	0	0	12623	536	19	2	583	2	PRR23C	3	138763254	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	90037273	138763254	59259176	10	10291										
PACRGL	133015	genome.wustl.edu	37	chr4	20715122	20715122	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	tcagctaagtgtcgttgttgGtccttctctaaacgaccatc	8	11	2	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr4:20715122G>C	ENST00000503585.1	+	7	960	c.569G>C	c.(568-570)gGt>gCt	p.G190A	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.G137A|PACRGL_ENST00000360916.5_Missense_Mutation_p.G190A|PACRGL_ENST00000513459.1_Missense_Mutation_p.G137A|PACRGL_ENST00000538990.1_Missense_Mutation_p.G92A|PACRGL_ENST00000507634.1_Missense_Mutation_p.G190A|PACRGL_ENST00000444671.2_Missense_Mutation_p.G92A|PACRGL_ENST00000295290.8_Missense_Mutation_p.G190A	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	190										endometrium(2)|lung(7)|prostate(1)	10						GTCGTTGTTGGTCCTTCTCTA	0.418																																																	0													257	205	223					4																	20715122		2203	4300	6503	SO:0001583	missense	133015			AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.569G>C	4.37:g.20715122G>C	ENSP00000423881:p.Gly190Ala		B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.G190A	ENST00000503585.1	37	c.569	CCDS58895.1	4	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406528	0.83230	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.70986	3.21;-0.53;3.21;3.21;1.29;3.21;3.21;3.21;3.21;3.21	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.85462	2.755	0.41357	D	0.9874	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.997;0.996;0.993;0.999;1.0;0.988	D	0.87771	0.2605	10	0.62326	D	0.03	-16.4867	19.6973	0.96031	0.0:0.0:1.0:0.0	.	137;190;238;92;137;190	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	238;190;190;190;92;137;137;92;190;92;190;137;137	ENSP00000423499:G238A;ENSP00000423881:G190A;ENSP00000354171:G190A;ENSP00000295290:G190A;ENSP00000422394:G137A;ENSP00000425461:G137A;ENSP00000422425:G190A;ENSP00000425938:G190A;ENSP00000426286:G137A;ENSP00000421687:G137A	ENSP00000295290:G190A	G	+	2	0	PACRGL	20324220	1.000000	0.71417	0.937000	0.37676	0.832000	0.47134	7.083000	0.76859	2.674000	0.91012	0.655000	0.94253	GGT	PACRGL	-	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold		0.418	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PACRGL	HGNC	protein_coding	OTTHUMT00000360321.2	G	NM_145048		20715122	1	no_errors	ENST00000503585	ensembl	human	known	70_37	missense	SNP	0.998	C	C	20715122	G	C	20715122	3	2	69	1	0	0	0	0	1	0	0	0	11395	1261	44	4	591	4	PACRGL	4	20715122	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		20715122	170439154	11	10292										
FAT1	2195	genome.wustl.edu	37	chr4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gggcgtgccggtgcaggtttGagagggtgataatccctgtt	17	7	0	2			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												4	Substitution - Nonsense(4)	lung(4)											160	166	164					4																	187540391		2055	4199	6254	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7349C>G	4.37:g.187540391G>C	ENSP00000406229:p.Ser2450*			Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2450*	ENST00000441802.2	37	c.7349	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	47	13.224743	0.99728	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	X	2450;2452	.	ENSP00000260147:S2452X	S	-	2	0	FAT1	187777385	1.000000	0.71417	0.983000	0.44433	0.038000	0.13279	9.601000	0.98297	2.890000	0.99128	0.650000	0.86243	TCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187540391	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	187540391	G	C	187540391	4	2	69	1	0	0	0	0	0	1	0	0	5707	1294	45	1	6489	1	FAT1	4	187540391	Nonsense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09	166825269	187540391	3613885	12	10293										
TNXB	7148	genome.wustl.edu	37	chr6	32029988	32029988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	ctggccaccgtggaagccgtAcaggttcatcttgtacttgt	11	11	2	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr6:32029988A>C	ENST00000375244.3	-	20	7315	c.7114T>G	c.(7114-7116)Tac>Gac	p.Y2372D	TNXB_ENST00000375247.2_Missense_Mutation_p.Y2372D			P22105	TENX_HUMAN	tenascin XB	2434	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGAAGCCGTACAGGTTCATC	0.637																																																	0													40	46	44					6																	32029988		1312	2566	3878	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7114T>G	6.37:g.32029988A>C	ENSP00000364393:p.Tyr2372Asp		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.Y2372D	ENST00000375244.3	37	c.7114		6	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582764	0.46006	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.52	4.52	0.55395	.	0.000000	0.52532	D	0.000074	T	0.68081	0.2962	M	0.92026	3.265	0.28995	N	0.887801	D	0.89917	1.0	D	0.91635	0.999	T	0.67051	-0.5768	10	0.51188	T	0.08	.	11.37	0.49694	1.0:0.0:0.0:0.0	.	2372	P22105-3	.	D	2372	ENSP00000364393:Y2372D;ENSP00000364396:Y2372D	ENSP00000364393:Y2372D	Y	-	1	0	TNXB	32137966	0.676000	0.27567	0.993000	0.49108	0.219000	0.24729	5.098000	0.64548	1.656000	0.50722	0.533000	0.62120	TAC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	A	NM_019105		32029988	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.995	C	C	32029988	A	C	32029988	3	2	69	1	0	0	0	0	1	0	0	0	16376	391	14	5	7699	5	TNXB	6	32029988	Missense_Mutation	SNP	A	TCGA-EA-A1QS-01A-61D-A22X-09		32029988	139085079	13	10294										
ZNF292	23036	genome.wustl.edu	37	chr6	87965710	87965710	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	tatgtttcctaaatgtggaaGaattttttcggaagcttatt	8	4	0	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr6:87965710G>A	ENST00000369577.3	+	8	2406	c.2363G>A	c.(2362-2364)aGa>aAa	p.R788K	ZNF292_ENST00000339907.4_Missense_Mutation_p.R783K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	788						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATGTGGAAGAATTTTTTCG	0.348																																																	0													45	43	43					6																	87965710		1830	4090	5920	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2363G>A	6.37:g.87965710G>A	ENSP00000358590:p.Arg788Lys		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R788K	ENST00000369577.3	37	c.2363	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551409	0.13374	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35789	1.29;1.29	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.086815	0.85682	D	0.000000	T	0.08492	0.0211	N	0.11255	0.115	0.34755	D	0.732144	B	0.31599	0.33	B	0.25884	0.064	T	0.08106	-1.0738	10	0.02654	T	1	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	788	O60281	ZN292_HUMAN	K	788;783	ENSP00000358590:R788K;ENSP00000342847:R783K	ENSP00000342847:R783K	R	+	2	0	ZNF292	88022429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.392000	0.66272	2.726000	0.93360	0.655000	0.94253	AGA	ZNF292	-	smart_Znf_C2H2-like		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87965710	1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87965710	G	A	87965710	3	1	69	1	0	0	0	0	1	0	0	0	17856	942	33	1	2393	1	ZNF292	6	87965710	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09	55935722	87965710	83149357	14	10295										
SASH1	23328	genome.wustl.edu	37	chr6	148664255	148664255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cggagcctgagcccgagcccGagccggagcccgagcccgcg	16	18	0	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr6:148664255G>C	ENST00000367467.3	+	1	527	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	SASH1_ENST00000367469.1_Intron	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	18	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		gcccgagcccgagccggagcc	0.766																																																	0													7	10	9					6																	148664255		2095	4195	6290	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.52G>C	6.37:g.148664255G>C	ENSP00000356437:p.Glu18Gln		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E18Q	ENST00000367467.3	37	c.52	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198951	0.58126	.	.	ENSG00000111961	ENST00000367467	T	0.20069	2.1	3.55	1.67	0.24075	.	2.462120	0.01851	N	0.035905	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.26775	0.159	B	0.23852	0.049	T	0.25433	-1.0132	10	0.39692	T	0.17	-5.1947	5.4254	0.16423	0.2561:0.0:0.7439:0.0	.	18	O94885	SASH1_HUMAN	Q	18	ENSP00000356437:E18Q	ENSP00000356437:E18Q	E	+	1	0	SASH1	148705948	0.532000	0.26346	0.803000	0.32268	0.441000	0.31987	0.731000	0.26058	1.528000	0.49103	0.305000	0.20034	GAG	SASH1	-	NULL		0.766	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148664255	1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.001	C	C	148664255	G	C	148664255	3	2	69	1	0	0	0	0	1	0	0	0	13878	1059	37	1	54	1	SASH1	6	148664255	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09	60698545	148664255	22450812	15	10296										
ERV3	2086	genome.wustl.edu	37	chr7	64452777	64452777	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	taaacctgttgtccatatggGctgatctggctctaagatgg	11	8	2	2			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr7:64452777G>C	ENST00000394323.2	-	2	1128	c.628C>G	c.(628-630)Ccc>Gcc	p.P210A	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	210						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gtccatatgggctgatctggc	0.413																																																	0													185	183	184					7																	64452777		2016	4211	6227	SO:0001583	missense	2086			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.628C>G	7.37:g.64452777G>C	ENSP00000391594:p.Pro210Ala			Missense_Mutation	SNP	NULL	p.P210A	ENST00000394323.2	37	c.628	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	13.99	2.402047	0.42613	.	.	ENSG00000213462	ENST00000394323	T	0.33438	1.41	0.109	0.109	0.14578	.	.	.	.	.	T	0.26991	0.0661	N	0.08118	0	0.18873	N	0.999982	D	0.71674	0.998	D	0.70716	0.97	T	0.24870	-1.0148	8	0.22706	T	0.39	.	.	.	.	.	210	Q14264	ENR1_HUMAN	A	210	ENSP00000391594:P210A	ENSP00000391594:P210A	P	-	1	0	ERV3-1	64090212	0.855000	0.29742	0.634000	0.29324	0.638000	0.38207	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	CCC	ERV3-1	-	NULL		0.413	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	G	NM_001007253		64452777	-1	no_errors	ENST00000394323	ensembl	human	known	70_37	missense	SNP	0.695	C	C	64452777	G	C	64452777	3	2	69	1	0	0	0	0	1	0	0	0	5257	1203	42	4	1190	4	ERV3	7	64452777	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		64452777	94685886	16	10297										
ADAM9	8754	genome.wustl.edu	37	chr8	38948831	38948831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	acagccggggagtgttcctcGacatgtttctccagtgacac	11	12	1	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr8:38948831G>T	ENST00000487273.2	+	20	2342	c.2264G>T	c.(2263-2265)cGa>cTa	p.R755L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	755				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTGTTCCTCGACATGTTTCT	0.333																																																	0													106	113	111					8																	38948831		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2264G>T	8.37:g.38948831G>T	ENSP00000419446:p.Arg755Leu		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R755L	ENST00000487273.2	37	c.2264	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292789	0.01375	.	.	ENSG00000168615	ENST00000487273	T	0.03831	3.79	4.67	1.14	0.20703	.	0.342731	0.25517	N	0.030126	T	0.04137	0.0115	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.40232	-0.9574	10	0.28530	T	0.3	.	3.4739	0.07577	0.2702:0.0:0.5475:0.1823	.	755	Q13443	ADAM9_HUMAN	L	755	ENSP00000419446:R755L	ENSP00000419446:R755L	R	+	2	0	ADAM9	39067988	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.251000	0.18257	0.088000	0.17205	0.436000	0.28706	CGA	ADAM9	-	NULL		0.333	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	G			38948831	1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	0.000	T	T	38948831	G	T	38948831	3	4	69	1	0	0	0	0	1	0	0	0	253	1058	37	3	2342	3	ADAM9	8	38948831	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		38948831	107415191	17	10298										
FREM1	158326	genome.wustl.edu	37	chr9	14805125	14805125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	acatagttaatgtgaaaagcGttcatgtctttccactgaaa	7	7	2	2	rs373880710		TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr9:14805125G>T	ENST00000380880.3	-	19	4083	c.3300C>A	c.(3298-3300)aaC>aaA	p.N1100K	FREM1_ENST00000380881.4_Missense_Mutation_p.N1101K|FREM1_ENST00000422223.2_Missense_Mutation_p.N1100K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1100					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTGAAAAGCGTTCATGTCTT	0.413																																																	0													144	136	139					9																	14805125		1919	4136	6055	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3300C>A	9.37:g.14805125G>T	ENSP00000370262:p.Asn1100Lys		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.N1101K	ENST00000380880.3	37	c.3303	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504545	0.04261	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26660	1.72;1.72;1.72	5.42	1.51	0.23008	.	0.343327	0.32028	N	0.006687	T	0.04679	0.0127	N	0.00427	-1.505	0.25761	N	0.98495	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	10	0.02654	T	1	-7.8446	5.9448	0.19213	0.0:0.4962:0.1321:0.3717	.	1100	Q5H8C1	FREM1_HUMAN	K	1101;1100;1100	ENSP00000370263:N1101K;ENSP00000412940:N1100K;ENSP00000370262:N1100K	ENSP00000370257:N1103K	N	-	3	2	FREM1	14795125	0.998000	0.40836	0.996000	0.52242	0.983000	0.72400	0.655000	0.24933	0.014000	0.14944	-0.171000	0.13296	AAC	FREM1	-	NULL		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	G	NM_144966		14805125	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	0.976	T	T	14805125	G	T	14805125	3	4	69	1	0	0	0	0	1	0	0	0	6062	1136	40	2	3365	2	FREM1	9	14805125	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		14805125	126408306	18	10299										
VCP	7415	genome.wustl.edu	37	chr9	35064274	35064274	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cctacttcattcaaggactcTtcctcatcctgaatatggag	6	12	4	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr9:35064274T>A	ENST00000358901.6	-	6	1480	c.585A>T	c.(583-585)gaA>gaT	p.E195D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	195					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAAGGACTCTTCCTCATCCT	0.448																																																	0													129	114	119					9																	35064274		2203	4300	6503	SO:0001583	missense	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.585A>T	9.37:g.35064274T>A	ENSP00000351777:p.Glu195Asp		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48	p.E195D	ENST00000358901.6	37	c.585	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094238	0.56075	.	.	ENSG00000165280	ENST00000358901;ENST00000448530	D;D	0.96265	-3.96;-3.96	6.17	2.59	0.31030	.	0.000000	0.85682	D	0.000000	D	0.91482	0.7311	L	0.28556	0.865	0.58432	D	0.999999	B	0.12630	0.006	B	0.14578	0.011	D	0.86103	0.1557	10	0.66056	D	0.02	-26.901	7.6256	0.28210	0.0:0.44:0.0:0.56	.	195	P55072	TERA_HUMAN	D	195;150	ENSP00000351777:E195D;ENSP00000392088:E150D	ENSP00000351777:E195D	E	-	3	2	VCP	35054274	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.326000	0.19646	0.576000	0.29452	0.533000	0.62120	GAA	VCP	-	tigrfam_ATPase_AAA_CDC48		0.448	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	T	NM_007126		35064274	-1	no_errors	ENST00000358901	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35064274	T	A	35064274	3	1	69	1	0	0	0	0	1	0	0	0	17171	1606	56	5	1883	5	VCP	9	35064274	Missense_Mutation	SNP	T	TCGA-EA-A1QS-01A-61D-A22X-09	20259149	35064274	106149157	19	10300										
MLLT10	8028	genome.wustl.edu	37	chr10	21959589	21959589	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	aagaaagcctggtggtggaaGaaatccaggaacaactgtgt	13	6	0	2			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr10:21959589G>C	ENST00000307729.7	+	10	1185	c.1007G>C	c.(1006-1008)aGa>aCa	p.R336T	MLLT10_ENST00000377072.3_Missense_Mutation_p.R336T|MLLT10_ENST00000446906.2_Missense_Mutation_p.R336T|MLLT10_ENST00000377059.3_Missense_Mutation_p.R336T			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	336	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGTGGTGGAAGAAATCCAGGA	0.413			T	"MLL, PICALM, CDK6"	AL																																			Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0													94	92	93					10																	21959589		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1007G>C	10.37:g.21959589G>C	ENSP00000307411:p.Arg336Thr		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R336T	ENST00000307729.7	37	c.1007	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987539	0.53934	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.15603	2.43;2.42;2.41;2.42	5.71	5.71	0.89125	.	0.534882	0.20641	N	0.088406	T	0.32675	0.0837	L	0.41236	1.265	0.46823	D	0.999217	D;P;P;P	0.71674	0.998;0.799;0.948;0.799	D;B;P;B	0.66351	0.943;0.343;0.614;0.343	T	0.01062	-1.1464	10	0.19147	T	0.46	.	19.8404	0.96679	0.0:0.0:1.0:0.0	.	182;336;336;336	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	T	336;336;336;182;336;76;75	ENSP00000366272:R336T;ENSP00000401406:R336T;ENSP00000307411:R336T;ENSP00000366258:R336T	ENSP00000307411:R336T	R	+	2	0	MLLT10	21999595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.163000	0.64948	2.689000	0.91719	0.655000	0.94253	AGA	MLLT10	-	NULL		0.413	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	G			21959589	1	no_errors	ENST00000307729	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21959589	G	C	21959589	3	2	69	1	0	0	0	0	1	0	0	0	9649	942	33	1	1041	1	MLLT10	10	21959589	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		21959589	113575158	20	10301										
ZEB1	6935	genome.wustl.edu	37	chr10	31799694	31799694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gaaagaacacattaaatatcGtcatgaaaagaatgaagata	7	4	1	5			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr10:31799694G>A	ENST00000320985.10	+	5	685	c.575G>A	c.(574-576)cGt>cAt	p.R192H	ZEB1_ENST00000361642.5_Missense_Mutation_p.R193H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.R125H|ZEB1_ENST00000446923.2_Missense_Mutation_p.R176H|ZEB1_ENST00000560721.2_Missense_Mutation_p.R172H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	192					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATTAAATATCGTCATGAAAAG	0.378																																					Ovarian(40;423 959 14296 36701 49589)												0													92	84	87					10																	31799694		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.575G>A	10.37:g.31799694G>A	ENSP00000319248:p.Arg192His		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R193H	ENST00000320985.10	37	c.578	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.415913	0.96092	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13901	2.56;2.61;2.55;2.58;2.61	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.39886	0.1095	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.997;0.997;0.999;0.997;0.997	T	0.06338	-1.0832	10	0.87932	D	0	-12.1654	20.1174	0.97942	0.0:0.0:1.0:0.0	.	125;192;176;192;192;172;193;192	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	192;193;192;125;192;172;51;193;83;176	ENSP00000354487:R193H;ENSP00000444891:R125H;ENSP00000319248:R192H;ENSP00000415961:R193H;ENSP00000391612:R176H	ENSP00000319248:R192H	R	+	2	0	ZEB1	31839700	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.771000	0.95319	0.591000	0.81541	CGT	ZEB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	G	NM_030751		31799694	1	no_errors	ENST00000361642	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31799694	G	A	31799694	3	1	69	1	0	0	0	0	1	0	0	0	17653	1145	40	2	607	2	ZEB1	10	31799694	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09	9840105	31799694	103735053	21	10302										
DAGLA	747	genome.wustl.edu	37	chr11	61507102	61507102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cgcccggccgcatcatccacGtggtccacaaccaccctgca	8	20	1	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr11:61507102G>A	ENST00000257215.5	+	17	1938	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	608					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CATCATCCACGTGGTCCACAA	0.672																																																	0													99	86	91					11																	61507102		2202	4299	6501	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1822G>A	11.37:g.61507102G>A	ENSP00000257215:p.Val608Met		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.V608M	ENST00000257215.5	37	c.1822	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662631	0.88251	.	.	ENSG00000134780	ENST00000257215	T	0.26810	1.71	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52373	-0.8584	10	0.56958	D	0.05	-25.5336	17.0001	0.86378	0.0:0.0:1.0:0.0	.	608	Q9Y4D2	DGLA_HUMAN	M	608	ENSP00000257215:V608M	ENSP00000257215:V608M	V	+	1	0	DAGLA	61263678	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.791000	0.99081	2.076000	0.62316	0.462000	0.41574	GTG	DAGLA	-	NULL		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	G	NM_006133		61507102	1	no_errors	ENST00000257215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61507102	G	A	61507102	3	1	69	1	0	0	0	0	1	0	0	0	4231	1145	40	2	1884	2	DAGLA	11	61507102	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		61507102	73499414	22	10303										
ARCN1	372	genome.wustl.edu	37	chr11	118461072	118461072	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	atagtgtacatatgaagattGaagaaaagataacattaacc	7	4	0	5			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr11:118461072G>A	ENST00000264028.4	+	6	930	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ARCN1_ENST00000392859.3_Missense_Mutation_p.E191K|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.E320K	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	279	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TATGAAGATTGAAGAAAAGAT	0.428																																																	0													94	83	87					11																	118461072		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.835G>A	11.37:g.118461072G>A	ENSP00000264028:p.Glu279Lys		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.E279K	ENST00000264028.4	37	c.835	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.558637	0.96514	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.20332	2.08;2.08;2.08	5.86	5.86	0.93980	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.64676	1.99	0.80722	D	1	D;P;P	0.57257	0.979;0.872;0.91	P;P;P	0.60949	0.881;0.759;0.607	T	0.01238	-1.1409	10	0.27082	T	0.32	-9.2193	20.1581	0.98126	0.0:0.0:1.0:0.0	.	191;320;279	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	K	191;320;279	ENSP00000376599:E191K;ENSP00000352385:E320K;ENSP00000264028:E279K	ENSP00000264028:E279K	E	+	1	0	ARCN1	117966282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.992000	0.93519	2.937000	0.99478	0.650000	0.86243	GAA	ARCN1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C		0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	G			118461072	1	no_errors	ENST00000264028	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118461072	G	A	118461072	3	1	69	1	0	0	0	0	1	0	0	0	842	1291	45	1	857	1	ARCN1	11	118461072	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09	56953970	118461072	16545444	23	10304										
FKBP4	2288	genome.wustl.edu	37	chr12	2910358	2910358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	acctggccgtgaatgactttGaactggcacgggctgatttc	12	10	0	4			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr12:2910358G>A	ENST00000001008.4	+	9	1295	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	370	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GAATGACTTTGAACTGGCACG	0.592																																																	0													57	62	60					12																	2910358		2203	4300	6503	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1108G>A	12.37:g.2910358G>A	ENSP00000001008:p.Glu370Lys		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E370K	ENST00000001008.4	37	c.1108	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797674	0.90538	.	.	ENSG00000004478	ENST00000001008	T	0.75938	-0.98	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181068	0.64402	D	0.000017	T	0.66436	0.2789	L	0.28274	0.84	0.80722	D	1	B	0.25007	0.116	B	0.26770	0.073	T	0.62923	-0.6751	10	0.46703	T	0.11	-20.4149	18.5351	0.91008	0.0:0.0:1.0:0.0	.	370	Q02790	FKBP4_HUMAN	K	370	ENSP00000001008:E370K	ENSP00000001008:E370K	E	+	1	0	FKBP4	2780619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.383000	0.97214	2.619000	0.88677	0.561000	0.74099	GAA	FKBP4	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.592	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	G			2910358	1	no_errors	ENST00000001008	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2910358	G	A	2910358	3	1	69	1	0	0	0	0	1	0	0	0	5928	1291	45	1	1142	1	FKBP4	12	2910358	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		2910358	130941537	24	10305										
LRRC43	254050	genome.wustl.edu	37	chr12	122687969	122687969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gccgctcggcggaggaggctCtgcgcatgttcgccgtgtag	17	12	1	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr12:122687969C>G	ENST00000339777.4	+	12	1979	c.1951C>G	c.(1951-1953)Ctg>Gtg	p.L651V	LRRC43_ENST00000425921.1_Missense_Mutation_p.L466V|B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000535274.1_5'Flank|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	651										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGAGGAGGCTCTGCGCATGTT	0.662																																																	0													49	56	53					12																	122687969		2032	4177	6209	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1951C>G	12.37:g.122687969C>G	ENSP00000344233:p.Leu651Val		Q6ZVT9	Missense_Mutation	SNP	NULL	p.L651V	ENST00000339777.4	37	c.1951	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820581	0.32145	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56444	0.46;0.89	4.08	-1.25	0.09405	.	0.774754	0.11203	N	0.588579	T	0.39009	0.1062	L	0.54323	1.7	0.09310	N	1	B	0.32101	0.356	B	0.28305	0.088	T	0.34004	-0.9846	10	0.56958	D	0.05	-16.3728	2.8508	0.05556	0.3311:0.2847:0.0:0.3842	.	651	Q8N309	LRC43_HUMAN	V	651;522;466	ENSP00000344233:L651V;ENSP00000416628:L466V	ENSP00000289014:L522V	L	+	1	2	LRRC43	121253922	.	.	0.130000	0.21974	0.081000	0.17604	.	.	-0.020000	0.14032	0.462000	0.41574	CTG	LRRC43	-	NULL		0.662	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	C	NM_152759		122687969	1	no_errors	ENST00000339777	ensembl	human	known	70_37	missense	SNP	0.002	G	G	122687969	C	G	122687969	3	3	69	1	0	0	0	0	1	0	0	0	9024	912	32	1	1997	1	LRRC43	12	122687969	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	119777611	122687969	11163926	25	10306										
SMEK1	55671	genome.wustl.edu	37	chr14	91943285	91943285	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	tttttcctcatctgttgcttCatctgttagttgtgcaaaca	6	9	4	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr14:91943285C>T	ENST00000554943.1	-	5	1076	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SMEK1_ENST00000555462.1_Missense_Mutation_p.E82K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E321K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E321K|SMEK1_ENST00000428424.2_Missense_Mutation_p.E82K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	321					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTGTTGCTTCATCTGTTAGT	0.358																																																	0													129	119	123					14																	91943285		2200	4297	6497	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.961G>A	14.37:g.91943285C>T	ENSP00000450883:p.Glu321Lys		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E321K	ENST00000554943.1	37	c.961		14	.	.	.	.	.	.	.	.	.	.	C	31	5.084165	0.94100	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000417249	T;T;T;T;T;T;T	0.32023	1.58;1.58;1.47;1.58;1.47;1.58;1.47	5.63	5.63	0.86233	Armadillo-like helical (1);Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.41236	1.265	0.80722	D	1	D;P;P;P	0.56035	0.974;0.587;0.78;0.57	D;B;P;B	0.67725	0.953;0.225;0.604;0.193	T	0.06338	-1.0832	10	0.10636	T	0.68	-20.6559	20.0401	0.97581	0.0:1.0:0.0:0.0	.	82;321;321;321	Q6IN85-4;G3V5Z3;Q6IN85;Q6IN85-2	.;.;P4R3A_HUMAN;.	K	321;321;82;321;82;321;82;111	ENSP00000450864:E321K;ENSP00000337125:E321K;ENSP00000392704:E82K;ENSP00000450883:E321K;ENSP00000450891:E82K;ENSP00000452596:E321K;ENSP00000452257:E82K	ENSP00000337125:E321K	E	-	1	0	SMEK1	91013038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.692000	0.84203	2.805000	0.96524	0.655000	0.94253	GAA	SMEK1	-	pfam_DUF625,superfamily_ARM-type_fold		0.358	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91943285	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91943285	C	T	91943285	3	4	69	1	0	0	0	0	1	0	0	0	14823	835	29	1	1545	1	SMEK1	14	91943285	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09		91943285	15406255	26	10307										
PACS2	23241	genome.wustl.edu	37	chr14	105848350	105848350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	cgggccaacagcctggacaaCgagcgctgcccggacgcccg	14	17	0	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr14:105848350C>T	ENST00000325438.8	+	13	1872	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	PACS2_ENST00000547217.1_Silent_p.N426N|PACS2_ENST00000447393.1_Silent_p.N456N|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Silent_p.N456N|PACS2_ENST00000430725.2_Silent_p.N381N			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	456					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCCTGGACAACGAGCGCTGCC	0.716																																																	0													19	18	18					14																	105848350		2061	4089	6150	SO:0001819	synonymous_variant	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1368C>T	14.37:g.105848350C>T			A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	pfam_Phosphofurin_acidic_CS-1	p.N456	ENST00000325438.8	37	c.1368	CCDS32168.1	14																																																																																			PACS2	-	NULL		0.716	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	C	XM_377355		105848350	1	no_errors	ENST00000458164	ensembl	human	known	70_37	silent	SNP	0.922	T	T	105848350	C	T	105848350	2	4	69	1	0	0	0	0	0	0	0	1	11397	535	19	2		2	PACS2	14	105848350	Silent	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	13905065	105848350	1501190	27	10308										
NR2F2	7026	genome.wustl.edu	37	chr15	96877515	96877515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	catttgcgaactggccgcgaGgatgctcttcagcgccgtcg	13	13	2	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr15:96877515G>A	ENST00000394166.3	+	2	2042	c.653G>A	c.(652-654)aGg>aAg	p.R218K	NR2F2_ENST00000394171.2_Missense_Mutation_p.R65K|NR2F2_ENST00000453270.2_Missense_Mutation_p.R65K|NR2F2_ENST00000421109.2_Missense_Mutation_p.R85K|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	218	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGGCCGCGAGGATGCTCTTC	0.632																																																	0													155	146	149					15																	96877515		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.653G>A	15.37:g.96877515G>A	ENSP00000377721:p.Arg218Lys		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R218K	ENST00000394166.3	37	c.653	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.438571	0.96168	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	L	0.31065	0.9	0.80722	D	1	D;P	0.67145	0.996;0.924	D;P	0.85130	0.997;0.649	D	0.93121	0.6525	10	0.06757	T	0.87	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	218;85	P24468;Q3KQR7	COT2_HUMAN;.	K	85;218;65;65	ENSP00000401674:R85K;ENSP00000377721:R218K;ENSP00000377726:R65K;ENSP00000389853:R65K	ENSP00000377721:R218K	R	+	2	0	NR2F2	94678519	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	9.869000	0.99810	2.306000	0.77630	0.561000	0.74099	AGG	NR2F2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt		0.632	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	G			96877515	1	no_errors	ENST00000394166	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96877515	G	A	96877515	3	1	69	1	0	0	0	0	1	0	0	0	10652	1000	35	4	706	4	NR2F2	15	96877515	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		96877515	5653877	28	10309										
NOD2	64127	genome.wustl.edu	37	chr16	50744657	50744657	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gcccagccaccctgggcctgGaggagctcttcagcacccct	11	18	2	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr16:50744657G>C	ENST00000300589.2	+	4	940	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	279					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTGGGCCTGGAGGAGCTCTT	0.642																																																	0													37	38	37					16																	50744657		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.835G>C	16.37:g.50744657G>C	ENSP00000300589:p.Glu279Gln		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.E279Q	ENST00000300589.2	37	c.835	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814598	0.50527	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.71461	-0.57	5.63	3.49	0.39957	.	0.543226	0.17897	N	0.158339	T	0.73521	0.3597	L	0.49350	1.555	0.30250	N	0.79421	P;P;P	0.52170	0.722;0.951;0.722	B;P;B	0.54100	0.189;0.742;0.189	T	0.71842	-0.4470	10	0.56958	D	0.05	.	12.5706	0.56334	0.0:0.2463:0.7537:0.0	.	63;252;279	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	Q	252;279	ENSP00000300589:E279Q	ENSP00000300589:E279Q	E	+	1	0	NOD2	49302158	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.076000	0.41548	2.655000	0.90218	0.462000	0.41574	GAG	NOD2	-	NULL		0.642	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	G	NM_022162		50744657	1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.997	C	C	50744657	G	C	50744657	3	2	69	1	0	0	0	0	1	0	0	0	10541	1175	41	1	849	1	NOD2	16	50744657	Missense_Mutation	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		50744657	39610096	29	10310										
CHST8	64377	genome.wustl.edu	37	chr19	34263497	34263497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gagaggctggtgtccgccttCcgcgacaagtttgagcaccc	13	13	0	2			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:34263497C>T	ENST00000262622.4	+	4	1562	c.804C>T	c.(802-804)ttC>ttT	p.F268F	CHST8_ENST00000434302.1_Silent_p.F268F|CHST8_ENST00000438847.3_Silent_p.F268F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	268					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGTCCGCCTTCCGCGACAAGT	0.632																																																	0													91	87	88					19																	34263497		2203	4300	6503	SO:0001819	synonymous_variant	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.804C>T	19.37:g.34263497C>T			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.F268	ENST00000262622.4	37	c.804	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase		0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	C	NM_022467		34263497	1	no_errors	ENST00000262622	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34263497	C	T	34263497	2	4	69	1	0	0	0	0	0	0	0	1	3415	854	30	1		1	CHST8	19	34263497	Silent	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09		34263497	24865486	30	10311										
ZNF302	55900	genome.wustl.edu	37	chr19	35176129	35176129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	tattcatactgaagaaaaacCgtttgaagtttagaaatgca	7	5	1	4			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:35176129C>G	ENST00000446502.2	+	6	1527	c.1319C>G	c.(1318-1320)cCg>cGg	p.P440R	ZNF302_ENST00000423823.2_Missense_Mutation_p.P396R|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.P396R|ZNF302_ENST00000457781.2_Missense_Mutation_p.P396R			Q9NR11	ZN302_HUMAN	zinc finger protein 302	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAAGAAAAACCGTTTGAAGTT	0.338																																																	0													50	52	51					19																	35176129		2202	4300	6502	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1319C>G	19.37:g.35176129C>G	ENSP00000396379:p.Pro440Arg		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P396R	ENST00000446502.2	37	c.1187		19	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.063022	0.07273	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.05925	3.45;3.45;3.45;3.37	0.832	0.832	0.18867	.	.	.	.	.	T	0.22003	0.0530	M	0.81112	2.525	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.02736	-1.1117	9	0.87932	D	0	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	440;396	E7EVR1;Q9NR11-2	.;.	R	396;396;396;440	ENSP00000391067:P396R;ENSP00000421028:P396R;ENSP00000405219:P396R;ENSP00000396379:P440R	ENSP00000405219:P396R	P	+	2	0	ZNF302	39867969	0.987000	0.35691	0.471000	0.27229	0.008000	0.06430	3.708000	0.54845	0.737000	0.32582	0.313000	0.20887	CCG	ZNF302	-	pfscan_Znf_C2H2		0.338	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	C			35176129	1	no_errors	ENST00000423823	ensembl	human	known	70_37	missense	SNP	0.074	G	G	35176129	C	G	35176129	3	3	69	1	0	0	0	0	1	0	0	0	17862	652	23	2	1201	2	ZNF302	19	35176129	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	912632	35176129	23952854	31	10312										
RASGRP4	115727	genome.wustl.edu	37	chr19	38905607	38905607	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	gggtaggtgcaggcggccgtCaggcaacctgtcgggctgtg	19	10	1	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:38905607C>T	ENST00000587738.1	-	9	1181	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	RASGRP4_ENST00000454404.2_Missense_Mutation_p.D337N|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D274N|RASGRP4_ENST00000586305.1_Missense_Mutation_p.D357N|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000587753.1_Intron			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	371	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCGGCCGTCAGGCAACCTG	0.667																																																	0													24	30	28					19																	38905607		2061	4200	6261	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1111G>A	19.37:g.38905607C>T	ENSP00000465772:p.Asp371Asn		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.D371N	ENST00000587738.1	37	c.1111	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586051	0.86748	.	.	ENSG00000171777	ENST00000293062;ENST00000405332;ENST00000454404	T	0.30981	1.51	4.81	4.81	0.61882	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.112700	0.64402	D	0.000014	T	0.33469	0.0864	N	0.16567	0.415	0.47819	D	0.999528	B;P;P;D	0.64830	0.236;0.606;0.918;0.994	B;B;P;D	0.66716	0.345;0.284;0.749;0.946	T	0.05468	-1.0883	10	0.39692	T	0.17	-18.0089	8.896	0.35465	0.0:0.9014:0.0:0.0986	.	274;337;357;371	C0LTP7;C0LTP4;Q8TDF6-2;Q8TDF6	.;.;.;GRP4_HUMAN	N	274;371;371	ENSP00000293062:D274N	ENSP00000293062:D274N	D	-	1	0	RASGRP4	43597447	0.994000	0.37717	0.988000	0.46212	0.994000	0.84299	5.497000	0.66924	2.483000	0.83821	0.561000	0.74099	GAC	RASGRP4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.667	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38905607	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.983	T	T	38905607	C	T	38905607	3	4	69	1	0	0	0	0	1	0	0	0	13107	826	29	1	946	1	RASGRP4	19	38905607	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	3729478	38905607	20223376	32	10313										
ZNF473	25888	genome.wustl.edu	37	chr19	50550227	50550227	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	acacccaggagacactttatCagtgtcaacgttgccagaaa	8	11	2	2			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:50550227C>T	ENST00000595661.1	+	6	3022	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q843*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q843*|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q831*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	843					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GACACTTTATCAGTGTCAACG	0.532											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	66	65					19																	50550227		2203	4300	6503	SO:0001587	stop_gained	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2527C>T	19.37:g.50550227C>T	ENSP00000472808:p.Gln843*	970	A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q843*	ENST00000595661.1	37	c.2527	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.581002	0.96565	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.01	2.97	0.34412	.	0.000000	0.41001	D	0.000971	.	.	.	.	.	.	0.46279	D	0.998969	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-6.9382	5.217	0.15348	0.2014:0.6935:0.0:0.1051	.	.	.	.	X	843;843;831	.	ENSP00000270617:Q843X	Q	+	1	0	ZNF473	55242039	0.000000	0.05858	0.025000	0.17156	0.142000	0.21351	-2.662000	0.00850	1.267000	0.44247	0.655000	0.94253	CAG	ZNF473	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50550227	1	no_errors	ENST00000270617	ensembl	human	known	70_37	nonsense	SNP	0.002	T	T	50550227	C	T	50550227	4	4	69	1	0	0	0	0	0	1	0	0	17961	827	29	1	2541	1	ZNF473	19	50550227	Nonsense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	11644620	50550227	8578756	33	10314										
ZNF543	125919	genome.wustl.edu	37	chr19	57839193	57839193	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	aactcccaattagggcaatcCaaggatcaggatgggccatc	10	11	1	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:57839193C>G	ENST00000321545.4	+	4	708	c.363C>G	c.(361-363)tcC>tcG	p.S121S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGGGCAATCCAAGGATCAGG	0.512																																																	0													62	65	64					19																	57839193		2203	4300	6503	SO:0001819	synonymous_variant	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.363C>G	19.37:g.57839193C>G			Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S121	ENST00000321545.4	37	c.363	CCDS33130.1	19																																																																																			ZNF543	-	NULL		0.512	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	C	XM_064865		57839193	1	no_errors	ENST00000321545	ensembl	human	known	70_37	silent	SNP	0.000	G	G	57839193	C	G	57839193	2	3	69	1	0	0	0	0	0	0	0	1	18006	581	21	4		4	ZNF543	19	57839193	Silent	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09	7288966	57839193	1289790	34	10315										
TCFL5	10732	genome.wustl.edu	37	chr20	61473404	61473404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	caaggagtccggtctggtcaGctttagccttcggccagttt	12	11	2	0			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr20:61473404G>A	ENST00000335351.3	-	6	1518	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L		NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	476					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGTCTGGTCAGCTTTAGCCTT	0.498																																																	0													111	92	98					20																	61473404		2203	4300	6503	SO:0001819	synonymous_variant	10732			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1426C>T	20.37:g.61473404G>A			O94771|Q9BYW0	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L476	ENST00000335351.3	37	c.1426	CCDS13506.1	20																																																																																			TCFL5	-	NULL		0.498	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCFL5	HGNC	protein_coding	OTTHUMT00000080079.2	G	NM_006602		61473404	-1	no_errors	ENST00000335351	ensembl	human	known	70_37	silent	SNP	0.955	A	A	61473404	G	A	61473404	2	1	69	1	0	0	0	0	0	0	0	1	15729	962	34	4		4	TCFL5	20	61473404	Silent	SNP	G	TCGA-EA-A1QS-01A-61D-A22X-09		61473404	1552116	35	10316										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	69	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09		22127164	29177402	36	10317										
DACH2	117154	genome.wustl.edu	37	chrX	85769284	85769284	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.351351351351351	13	2.84294639697468e-05	3.83405797101449	4.02173913043478	3.7254004576659	0.449481760667654	0.697595692556199	10	ttgtctgtttttcaacagttCaagacccggcaggcccccta	8	13	3	1			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chrX:85769284C>G	ENST00000373125.4	+	3	530	c.530C>G	c.(529-531)tCa>tGa	p.S177*	DACH2_ENST00000373131.1_Nonsense_Mutation_p.S164*|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Nonsense_Mutation_p.S10*	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	177					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTCAACAGTTCAAGACCCGGC	0.418																																																	0													32	29	30					X																	85769284		2203	4300	6503	SO:0001587	stop_gained	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.530C>G	X.37:g.85769284C>G	ENSP00000362217:p.Ser177*		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Nonsense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S177*	ENST00000373125.4	37	c.530	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.000999	0.97189	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	.	.	.	4.88	4.01	0.46588	.	0.103997	0.42172	D	0.000760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.126	0.53917	0.0:0.9143:0.0:0.0857	.	.	.	.	X	177;164;177;10;10	.	ENSP00000345134:S177X	S	+	2	0	DACH2	85655940	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.223000	0.65283	0.834000	0.34852	0.506000	0.49869	TCA	DACH2	-	NULL		0.418	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	C	NM_053281		85769284	1	no_errors	ENST00000373125	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	85769284	C	G	85769284	4	3	69	1	0	0	0	0	0	1	0	0	4226	838	29	1	540	1	DACH2	23	85769284	Nonsense_Mutation	SNP	C	TCGA-EA-A1QS-01A-61D-A22X-09		85769284	69501276	37	10318										
ZCCHC11	23318	genome.wustl.edu	37	chr1	52891171	52891171	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tggaggagtcagtcctcgaaAgcctggctctgcatttcaac	11	11	3	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:52891171A>C	ENST00000371544.3	-	29	4979	c.4717T>G	c.(4717-4719)Ttt>Gtt	p.F1573V	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.F1574V	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1573	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.F1574V(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCTCGAAAGCCTGGCTCT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											51	51	51					1																	52891171		2203	4300	6503	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4717T>G	1.37:g.52891171A>C	ENSP00000360599:p.Phe1573Val		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F1574V	ENST00000371544.3	37	c.4720	CCDS30716.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.073300|4.073300	0.76415|0.76415	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.53857|.	0.6;0.61|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.609738|.	0.17024|.	N|.	0.189983|.	T|T	0.51415|0.51415	0.1673|0.1673	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.53151|.	0.958|.	P|.	0.47827|.	0.558|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|5	0.72032|.	D|.	0.01|.	.|.	14.4918|14.4918	0.67657|0.67657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1573|.	Q5TAX3|.	TUT4_HUMAN|.	V|R	1574;1573|75	ENSP00000257177:F1574V;ENSP00000360599:F1573V|.	ENSP00000257177:F1574V|.	F|L	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52663759|52663759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	5.463000|5.463000	0.66712|0.66712	2.025000|2.025000	0.59659|0.59659	0.254000|0.254000	0.18369|0.18369	TTT|CTT	ZCCHC11	-	NULL		0.428	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	A	XM_038288		52891171	-1	no_errors	ENST00000257177	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52891171	A	C	52891171	3	2	70	1	0	0	0	0	1	0	0	0	17610	72	3	5	225	5	ZCCHC11	1	52891171	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08		52891171	196359450	1	10319										
TNNI3K	100526835	genome.wustl.edu	37	chr1	74835136	74835136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tgttttgccgagaggtgtccAttctctgccagctcaatcat	9	11	3	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:74835136A>G	ENST00000370899.3	+	18	1874	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	TNNI3K_ENST00000326637.3_Missense_Mutation_p.I512V|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.I626V|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.I613V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I613V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.I512V(1)									AGAGGTGTCCATTCTCTGCCA	0.458																																																	1	Substitution - Missense(1)	cervix(1)											221	192	202					1																	74835136		2203	4300	6503	SO:0001583	missense	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1837A>G	1.37:g.74835136A>G	ENSP00000359936:p.Ile613Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,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,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I613V	ENST00000370899.3	37	c.1837		1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716428	0.89205	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.31476	0.935	0.53688	D	0.999974	D;D;D;P	0.69078	0.997;0.996;0.996;0.876	D;D;D;D	0.80764	0.994;0.99;0.99;0.927	T	0.43605	-0.9381	10	0.87932	D	0	.	15.1862	0.73002	1.0:0.0:0.0:0.0	.	512;613;613;613	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	V	613;613;613;613;512;36	ENSP00000359936:I613V;ENSP00000359932:I613V;ENSP00000450895:I613V;ENSP00000359928:I613V;ENSP00000322251:I512V;ENSP00000434975:I36V	ENSP00000322251:I512V	I	+	1	0	RP11-653A5.2;AC093158.1	74607724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.817000	0.75252	1.982000	0.57802	0.459000	0.35465	ATT	TNNI3K	-	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,pfscan_Prot_kinase_cat_dom		0.458	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	A			74835136	1	no_errors	ENST00000370891	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74835136	A	G	74835136	3	3	70	1	0	0	0	0	1	0	0	0	16359	217	8	5	1951	5	TNNI3K	1	74835136	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	21943965	74835136	174415485	2	10320										
GBP4	115361	genome.wustl.edu	37	chr1	89659022	89659022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cctggtggttgatggtgctcAcgctgttatagacaaagctg	13	8	1	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:89659022A>G	ENST00000355754.6	-	4	534	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	146	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V146A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GATGGTGCTCACGCTGTTATA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											126	119	121					1																	89659022		2203	4300	6503	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.437T>C	1.37:g.89659022A>G	ENSP00000359490:p.Val146Ala		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.V146A	ENST00000355754.6	37	c.437	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414311	0.42817	.	.	ENSG00000162654	ENST00000355754	T	0.60920	0.15	4.93	4.93	0.64822	Guanylate-binding protein, N-terminal (1);	0.440492	0.26119	N	0.026233	T	0.33498	0.0865	L	0.39566	1.225	0.09310	N	1	B	0.14012	0.009	B	0.23150	0.044	T	0.30149	-0.9988	10	0.62326	D	0.03	.	12.826	0.57721	1.0:0.0:0.0:0.0	.	146	Q96PP9	GBP4_HUMAN	A	146	ENSP00000359490:V146A	ENSP00000359490:V146A	V	-	2	0	GBP4	89431610	0.010000	0.17322	0.088000	0.20740	0.895000	0.52256	1.422000	0.34826	2.192000	0.70111	0.533000	0.62120	GTG	GBP4	-	pfam_Guanylate-bd_N		0.473	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	A	NM_052941		89659022	-1	no_errors	ENST00000355754	ensembl	human	known	70_37	missense	SNP	0.164	G	G	89659022	A	G	89659022	3	3	70	1	0	0	0	0	1	0	0	0	6295	159	6	5	1517	5	GBP4	1	89659022	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	14823886	89659022	159591599	3	10321										
ADAM30	11085	genome.wustl.edu	37	chr1	120437902	120437902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	taagcctacccctacattggCagtattgttcatcatgtgac	7	11	2	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:120437902C>T	ENST00000369400.1	-	1	1216	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	353	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C353Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTACATTGGCAGTATTGTTC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											139	131	134					1																	120437902		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1058G>A	1.37:g.120437902C>T	ENSP00000358407:p.Cys353Tyr		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.C353Y	ENST00000369400.1	37	c.1058	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347140	0.61183	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	D	0.85088	-1.94	4.88	4.88	0.63580	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.47852	U	0.000216	D	0.93067	0.7793	H	0.95574	3.69	0.21105	N	0.999784	D	0.89917	1.0	D	0.97110	1.0	D	0.87499	0.2432	10	0.87932	D	0	.	13.4215	0.61001	0.0:1.0:0.0:0.0	.	353	Q9UKF2	ADA30_HUMAN	Y	353	ENSP00000358407:C353Y	ENSP00000358407:C353Y	C	-	2	0	ADAM30	120239425	0.984000	0.35163	0.083000	0.20561	0.242000	0.25591	4.616000	0.61197	2.530000	0.85305	0.563000	0.77884	TGC	ADAM30	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.438	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	C	NM_021794		120437902	-1	no_errors	ENST00000369400	ensembl	human	known	70_37	missense	SNP	0.162	T	T	120437902	C	T	120437902	3	4	70	1	0	0	0	0	1	0	0	0	248	710	25	4	1318	4	ADAM30	1	120437902	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	30778880	120437902	128812719	4	10322										
GJA5	2702	genome.wustl.edu	37	chr1	147230802	147230802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gactcctgcggcagacatgcAgggtggtcaggaagattccg	15	10	1	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:147230802A>C	ENST00000271348.2	-	2	706	c.545T>G	c.(544-546)cTg>cGg	p.L182R	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.L182R	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	182					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCAGACATGCAGGGTGGTCAG	0.552																																																	0													83	76	79					1																	147230802		2203	4300	6503	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.545T>G	1.37:g.147230802A>C	ENSP00000271348:p.Leu182Arg		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.L182R	ENST00000271348.2	37	c.545	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417893	0.83449	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.96168	-3.93;-3.93;-3.93	5.68	5.68	0.88126	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97047	0.9761	10	0.59425	D	0.04	.	15.9362	0.79712	1.0:0.0:0.0:0.0	.	182	P36382	CXA5_HUMAN	R	182	ENSP00000271348:L182R;ENSP00000358240:L182R;ENSP00000407645:L182R	ENSP00000271348:L182R	L	-	2	0	GJA5	145697426	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	9.332000	0.96446	2.163000	0.67991	0.460000	0.39030	CTG	GJA5	-	pfam_Connexin_CCC		0.552	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	A	NM_181703		147230802	-1	no_errors	ENST00000271348	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147230802	A	C	147230802	3	2	70	1	0	0	0	0	1	0	0	0	6423	188	7	5	535	5	GJA5	1	147230802	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	26792900	147230802	102019819	5	10323										
FCRL1	115350	genome.wustl.edu	37	chr1	157773703	157773703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ttgtctgtgcctcgcaccagTatgaccctgtgtcttctttc	8	13	3	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:157773703T>C	ENST00000368176.3	-	3	318	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	FCRL1_ENST00000491942.1_Missense_Mutation_p.Y84C|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.Y84C	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	84	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y84C(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCGCACCAGTATGACCCTGT	0.562																																					GBM(54;482 1003 11223 30131 35730)												2	Substitution - Missense(2)	cervix(2)											113	102	106					1																	157773703		2203	4300	6503	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.251A>G	1.37:g.157773703T>C	ENSP00000357158:p.Tyr84Cys		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y84C	ENST00000368176.3	37	c.251	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086443	0.36855	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.54071	0.59;0.59;0.59	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.461061	0.18510	N	0.139085	T	0.71584	0.3357	M	0.93978	3.48	0.32730	N	0.509054	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77169	-0.2686	10	0.87932	D	0	.	10.4585	0.44565	0.0:0.0:0.0:1.0	.	84;84;84	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	C	84	ENSP00000351039:Y84C;ENSP00000357158:Y84C;ENSP00000418130:Y84C	ENSP00000351039:Y84C	Y	-	2	0	FCRL1	156040327	0.996000	0.38824	0.980000	0.43619	0.027000	0.11550	3.605000	0.54088	2.053000	0.61076	0.533000	0.62120	TAC	FCRL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	T	NM_052938		157773703	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	missense	SNP	0.993	C	C	157773703	T	C	157773703	3	2	70	1	0	0	0	0	1	0	0	0	5812	1638	57	5	1140	5	FCRL1	1	157773703	Missense_Mutation	SNP	T	TCGA-EA-A1QT-01A-11D-A14W-08	10542901	157773703	91476918	6	10324										
METTL13	51603	genome.wustl.edu	37	chr1	171755064	171755064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gctctttggcatggatgaggGccggaaacagctggcggcca	16	10	1	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:171755064G>C	ENST00000361735.3	+	3	1225	c.959G>C	c.(958-960)gGc>gCc	p.G320A	METTL13_ENST00000458517.1_Missense_Mutation_p.G319A|METTL13_ENST00000367737.5_Missense_Mutation_p.G164A|METTL13_ENST00000362019.3_Missense_Mutation_p.G234A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	320							methyltransferase activity (GO:0008168)	p.G320A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ATGGATGAGGGCCGGAAACAG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											58	54	56					1																	171755064		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.959G>C	1.37:g.171755064G>C	ENSP00000354920:p.Gly320Ala		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.G320A	ENST00000361735.3	37	c.959	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115180	0.77210	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.2	5.2	0.72013	.	0.099223	0.64402	D	0.000002	T	0.59756	0.2217	M	0.71296	2.17	0.80722	D	1	D;D;P	0.89917	0.963;1.0;0.951	P;D;B	0.97110	0.695;1.0;0.382	T	0.61657	-0.7018	10	0.87932	D	0	-17.331	18.0269	0.89272	0.0:0.0:1.0:0.0	.	319;164;320	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	A	319;234;164;320	ENSP00000401955:G319A;ENSP00000355393:G234A;ENSP00000356711:G164A;ENSP00000354920:G320A	ENSP00000354920:G320A	G	+	2	0	METTL13	170021687	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.463000	0.97652	2.861000	0.98227	0.655000	0.94253	GGC	METTL13	-	NULL		0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	G	NM_014955		171755064	1	no_errors	ENST00000361735	ensembl	human	known	70_37	missense	SNP	1.000	C	C	171755064	G	C	171755064	3	2	70	1	0	0	0	0	1	0	0	0	9520	1203	42	4	969	4	METTL13	1	171755064	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	13981361	171755064	77495557	7	10325										
PPP1R15B	84919	genome.wustl.edu	37	chr1	204380406	204380406	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	aaagcagtgtggggttcccgGagttttccgggccaagaggc	16	9	0	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:204380406G>C	ENST00000367188.4	-	1	513	c.134C>G	c.(133-135)tCc>tGc	p.S45C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	45					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.S45C(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGGGTTCCCGGAGTTTTCCGG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											53	62	59					1																	204380406		2203	4300	6503	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.134C>G	1.37:g.204380406G>C	ENSP00000356156:p.Ser45Cys		Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.S45C	ENST00000367188.4	37	c.134	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	G	9.729	1.161681	0.21538	.	.	ENSG00000158615	ENST00000367188	T	0.20738	2.05	4.46	-7.42	0.01388	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	3.927860	0.00763	N	0.001158	T	0.19208	0.0461	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22347	-1.0219	10	0.44086	T	0.13	10.1231	9.5481	0.39293	0.2069:0.4819:0.3112:0.0	.	45	Q5SWA1	PR15B_HUMAN	C	45	ENSP00000356156:S45C	ENSP00000356156:S45C	S	-	2	0	PPP1R15B	202647029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.130000	0.10498	-1.570000	0.01665	-2.589000	0.00165	TCC	PPP1R15B	-	pfam_Prot_Pase1_reg-su15B_N		0.632	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	HGNC	protein_coding	OTTHUMT00000087974.1	G	NM_032833		204380406	-1	no_errors	ENST00000367188	ensembl	human	known	70_37	missense	SNP	0.000	C	C	204380406	G	C	204380406	3	2	70	1	0	0	0	0	1	0	0	0	12391	1174	41	1	2015	1	PPP1R15B	1	204380406	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	32625342	204380406	44870215	8	10326										
FAM71A	149647	genome.wustl.edu	37	chr1	212798889	212798889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	accaggtcagcatccaaagcCtccacatggtctctgaggtg	10	13	2	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:212798889C>T	ENST00000294829.3	+	1	1101	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	224						nucleus (GO:0005634)		p.L224F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CATCCAAAGCCTCCACATGGT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											79	79	79					1																	212798889		2203	4300	6503	SO:0001583	missense	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.670C>T	1.37:g.212798889C>T	ENSP00000294829:p.Leu224Phe		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L224F	ENST00000294829.3	37	c.670	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512887	0.44660	.	.	ENSG00000162771	ENST00000294829	T	0.05649	3.41	4.12	3.21	0.36854	.	0.212765	0.23702	N	0.045419	T	0.04634	0.0126	L	0.36672	1.1	0.34044	D	0.655382	P	0.42584	0.784	B	0.33454	0.164	T	0.36187	-0.9758	10	0.54805	T	0.06	-10.9614	7.7083	0.28663	0.0:0.8856:0.0:0.1144	.	224	Q8IYT1	FA71A_HUMAN	F	224	ENSP00000294829:L224F	ENSP00000294829:L224F	L	+	1	0	FAM71A	210865512	0.413000	0.25400	0.994000	0.49952	0.903000	0.53119	0.167000	0.16602	1.096000	0.41439	0.563000	0.77884	CTC	FAM71A	-	NULL		0.537	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	C	NM_153606		212798889	1	no_errors	ENST00000294829	ensembl	human	known	70_37	missense	SNP	0.995	T	T	212798889	C	T	212798889	3	4	70	1	0	0	0	0	1	0	0	0	5625	681	24	4	672	4	FAM71A	1	212798889	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	8418483	212798889	36451732	9	10327										
ATL2	64225	genome.wustl.edu	37	chr2	38537520	38537520	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	atgtggcaaaaggaagcaacCaagatttgagaaacaattgt	10	5	0	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:38537520C>G	ENST00000378954.4	-	8	875	c.874G>C	c.(874-876)Ggt>Cgt	p.G292R	ATL2_ENST00000539122.1_Missense_Mutation_p.G121R|ATL2_ENST00000452935.2_Missense_Mutation_p.G274R|ATL2_ENST00000406122.1_Missense_Mutation_p.G121R|ATL2_ENST00000332337.4_Missense_Mutation_p.G274R|ATL2_ENST00000546051.1_Missense_Mutation_p.G121R|ATL2_ENST00000402054.1_Missense_Mutation_p.G121R|ATL2_ENST00000419554.2_Missense_Mutation_p.G292R	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	292	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.G292R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAGCAACCAAGATTTGAG	0.393																																																	1	Substitution - Missense(1)	cervix(1)											155	138	144					2																	38537520		2203	4300	6503	SO:0001583	missense	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.874G>C	2.37:g.38537520C>G	ENSP00000368237:p.Gly292Arg		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.G292R	ENST00000378954.4	37	c.874	CCDS46260.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.111099|2.111099	0.37242|0.37242	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130|ENST00000443098	T;T;T;T;T;T;T;T;T|T	0.60040|0.62941	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22|-0.01	5.26|5.26	3.39|3.39	0.38822|0.38822	Guanylate-binding protein, N-terminal (1);|.	0.245643|.	0.49916|.	D|.	0.000137|.	T|T	0.50922|0.50922	0.1644|0.1644	N|N	0.13235|0.13235	0.315|0.315	0.46631|0.46631	D|D	0.999134|0.999134	P;B;B;B;B|.	0.39624|.	0.681;0.003;0.004;0.033;0.001|.	P;B;B;B;B|.	0.51777|.	0.679;0.009;0.008;0.033;0.014|.	T|T	0.55698|0.55698	-0.8100|-0.8100	10|7	0.27785|0.72032	T|D	0.31|0.01	-5.1006|-5.1006	10.1564|10.1564	0.42825|0.42825	0.0:0.7886:0.1355:0.0758|0.0:0.7886:0.1355:0.0758	.|.	121;274;274;292;292|.	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;.;ATLA2_HUMAN|.	R|F	292;121;121;121;274;292;274;121;110|210	ENSP00000368237:G292R;ENSP00000385446:G121R;ENSP00000384062:G121R;ENSP00000446192:G121R;ENSP00000333393:G274R;ENSP00000415336:G292R;ENSP00000390743:G274R;ENSP00000438938:G121R;ENSP00000409811:G110R|ENSP00000410592:L210F	ENSP00000333393:G274R|ENSP00000410592:L210F	G|L	-|-	1|3	0|2	ATL2|ATL2	38391024|38391024	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	2.264000|2.264000	0.43302|0.43302	1.166000|1.166000	0.42689|0.42689	0.557000|0.557000	0.71058|0.71058	GGT|TTG	ATL2	-	pfam_Guanylate-bd_N		0.393	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	C	NM_022374		38537520	-1	no_errors	ENST00000378954	ensembl	human	known	70_37	missense	SNP	0.999	G	G	38537520	C	G	38537520	3	3	70	1	0	0	0	0	1	0	0	0	1108	594	21	4	1013	4	ATL2	2	38537520	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08		38537520	204661853	10	10328										
SFXN5	94097	genome.wustl.edu	37	chr2	73285676	73285676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cctcagtgacaaagagtgtgCgagggtcgatgatatccaag	13	8	1	3	rs373206510		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:73285676C>T	ENST00000272433.2	-	2	282	c.152G>A	c.(151-153)cGc>cAc	p.R51H	SFXN5_ENST00000410065.1_Missense_Mutation_p.R51H|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	51					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)	p.R51H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AAAGAGTGTGCGAGGGTCGAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	0,4406		0,0,2203	144	123	130		152	4.7	1	2		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN5	NM_144579.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	51/341	73285676	1,13005	2203	4300	6503	SO:0001583	missense	94097			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.152G>A	2.37:g.73285676C>T	ENSP00000272433:p.Arg51His		A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.R51H	ENST00000272433.2	37	c.152	CCDS1922.1	2	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132252	0.56828	0.0	1.16E-4	ENSG00000144040	ENST00000272433;ENST00000410065;ENST00000442582	T;T;T	0.32272	1.46;1.46;1.46	4.69	4.69	0.59074	.	0.219310	0.47852	D	0.000209	T	0.59865	0.2225	M	0.89601	3.045	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.954	T	0.64024	-0.6504	10	0.33940	T	0.23	-12.2938	13.5093	0.61502	0.0:1.0:0.0:0.0	.	51;51	B8ZZJ6;Q8TD22	.;SFXN5_HUMAN	H	51	ENSP00000272433:R51H;ENSP00000387076:R51H;ENSP00000396825:R51H	ENSP00000272433:R51H	R	-	2	0	SFXN5	73139184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.119000	0.64679	2.328000	0.79073	0.462000	0.41574	CGC	SFXN5	-	pfam_Mtc,tigrfam_Mtc		0.507	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1	C	NM_144579		73285676	-1	no_errors	ENST00000272433	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73285676	C	T	73285676	3	4	70	1	0	0	0	0	1	0	0	0	14228	768	27	2	922	2	SFXN5	2	73285676	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	34748156	73285676	169913697	11	10329										
TTN	7273	genome.wustl.edu	37	chr2	179440160	179440160	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tctttgggcttcaatcacatAgccagtgatcttgctgccac	8	12	4	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:179440160A>T	ENST00000591111.1	-	276	66000	c.65776T>A	c.(65776-65778)Tat>Aat	p.Y21926N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y23567N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y20999N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y14627N|TTN_ENST00000460472.2_Missense_Mutation_p.Y14502N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y14694N|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21926	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y20997N(1)|p.Y20999N(1)|p.Y14694N(1)|p.Y14627N(1)|p.Y14502N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATCACATAGCCAGTGATC	0.493																																																	5	Substitution - Missense(5)	cervix(5)											160	157	158					2																	179440160		2044	4207	6251	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65776T>A	2.37:g.179440160A>T	ENSP00000465570:p.Tyr21926Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Y20999N	ENST00000591111.1	37	c.62995		2	.	.	.	.	.	.	.	.	.	.	A	13.41	2.230114	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94535	0.8240	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96991	0.9722	9	0.87932	D	0	.	15.7826	0.78272	1.0:0.0:0.0:0.0	.	14502;14627;14694;21926	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20999;14502;14694;14627;14500	ENSP00000343764:Y20999N;ENSP00000434586:Y14502N;ENSP00000340554:Y14694N;ENSP00000352154:Y14627N	ENSP00000340554:Y14694N	Y	-	1	0	TTN	179148406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.142000	0.66516	0.477000	0.44152	TAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179440160	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179440160	A	T	179440160	3	4	70	1	0	0	0	0	1	0	0	0	16766	420	15	5	37428	5	TTN	2	179440160	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	106154484	179440160	63759213	12	10330										
TMEFF2	23671	genome.wustl.edu	37	chr2	193059224	193059224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	caaagtgtccagctgctgcaCtgccgcggggactcccacag	12	15	0	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:193059224C>T	ENST00000272771.5	-	1	1211	c.27G>A	c.(25-27)caG>caA	p.Q9Q	TMEFF2_ENST00000409056.3_Silent_p.Q9Q|TMEFF2_ENST00000392314.1_Silent_p.Q9Q	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	9						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.Q9Q(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGCTGCTGCACTGCCGCGGGG	0.637																																					Pancreas(50;1277 1381 28487 47072)												1	Substitution - coding silent(1)	cervix(1)											30	34	32					2																	193059224		2200	4291	6491	SO:0001819	synonymous_variant	23671			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.27G>A	2.37:g.193059224C>T			Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom	p.Q9	ENST00000272771.5	37	c.27	CCDS2314.1	2																																																																																			TMEFF2	-	NULL		0.637	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	C	NM_016192		193059224	-1	no_errors	ENST00000272771	ensembl	human	known	70_37	silent	SNP	1.000	T	T	193059224	C	T	193059224	2	4	70	1	0	0	0	0	0	0	0	1	16044	564	20	4		4	TMEFF2	2	193059224	Silent	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	13619064	193059224	50140149	13	10331										
ERBB4	2066	genome.wustl.edu	37	chr2	212248574	212248574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tcaaacgctttcttggccttCtctggcattgacagtatgtt	8	10	3	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:212248574C>G	ENST00000342788.4	-	28	4003	c.3693G>C	c.(3691-3693)gaG>gaC	p.E1231D	ERBB4_ENST00000402597.1_Missense_Mutation_p.E1221D|ERBB4_ENST00000436443.1_Missense_Mutation_p.E1215D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1231					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E1231D(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCTTGGCCTTCTCTGGCATTG	0.517										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	cervix(1)											253	234	240					2																	212248574		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3693G>C	2.37:g.212248574C>G	ENSP00000342235:p.Glu1231Asp		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1231D	ENST00000342788.4	37	c.3693	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166046	0.38217	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75050	-0.89;-0.9;-0.89	5.11	5.11	0.69529	.	0.060287	0.64402	D	0.000004	T	0.59018	0.2163	N	0.12182	0.205	0.58432	D	0.999994	B;B;B;B	0.32467	0.372;0.003;0.372;0.255	B;B;B;B	0.33392	0.163;0.005;0.163;0.104	T	0.56318	-0.7999	10	0.14252	T	0.57	.	19.09	0.93223	0.0:1.0:0.0:0.0	.	1205;1221;1215;1231	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1231;1215;1221	ENSP00000342235:E1231D;ENSP00000403204:E1215D;ENSP00000385565:E1221D	ENSP00000342235:E1231D	E	-	3	2	ERBB4	211956819	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.649000	0.46656	2.812000	0.96745	0.557000	0.71058	GAG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	C	NM_001042599		212248574	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	G	G	212248574	C	G	212248574	3	3	70	1	0	0	0	0	1	0	0	0	5221	912	32	1	237	1	ERBB4	2	212248574	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	19189350	212248574	30950799	14	10332										
SLC19A3	80704	genome.wustl.edu	37	chr2	228564076	228564076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ggcgtagtaggccacctcggCggcggtgaccatcccataga	14	13	0	2	rs367620430		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:228564076C>T	ENST00000258403.3	-	3	426	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A115T	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	119					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.A119T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCACCTCGGCGGCGGTGACC	0.567																																																	1	Substitution - Missense(1)	cervix(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89	90	90		355	3.4	1	2		90	0,8600		0,0,4300	no	missense	SLC19A3	NM_025243.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	119/497	228564076	1,13005	2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.355G>A	2.37:g.228564076C>T	ENSP00000258403:p.Ala119Thr			Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.A119T	ENST00000258403.3	37	c.355	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	C	1.632	-0.518800	0.04171	2.27E-4	0.0	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	D;D;D	0.87650	-2.28;-2.28;-2.28	5.8	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.288710	0.41500	N	0.000877	T	0.60196	0.2250	N	0.01631	-0.79	0.26232	N	0.979004	B;B	0.11235	0.004;0.001	B;B	0.06405	0.001;0.002	T	0.54309	-0.8313	10	0.02654	T	1	-29.288	5.4983	0.16815	0.127:0.1363:0.0:0.7367	.	115;119	F5H2M8;Q9BZV2	.;S19A3_HUMAN	T	119;115;119	ENSP00000258403:A119T;ENSP00000445519:A115T;ENSP00000399001:A119T	ENSP00000258403:A119T	A	-	1	0	SLC19A3	228272320	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	1.021000	0.30040	0.470000	0.27294	-1.004000	0.02495	GCC	SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.567	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	C			228564076	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	missense	SNP	0.988	T	T	228564076	C	T	228564076	3	4	70	1	0	0	0	0	1	0	0	0	14460	768	27	2	1151	2	SLC19A3	2	228564076	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	16315502	228564076	14635297	15	10333										
TRIM42	287015	genome.wustl.edu	37	chr3	140401821	140401821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ccagcgccgaggaacaggacGagaagatctgcatccaccac	11	14	1	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:140401821G>A	ENST00000286349.3	+	2	1050	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	287						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E287K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGAACAGGACGAGAAGATCTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											222	185	198					3																	140401821		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.859G>A	3.37:g.140401821G>A	ENSP00000286349:p.Glu287Lys		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E287K	ENST00000286349.3	37	c.859	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960504	0.74016	.	.	ENSG00000155890	ENST00000286349	T	0.47177	0.85	5.46	5.46	0.80206	Zinc finger, B-box (2);	0.098347	0.44902	D	0.000409	T	0.35364	0.0929	N	0.24115	0.695	0.36880	D	0.889347	D	0.58268	0.982	P	0.44518	0.452	T	0.23904	-1.0175	10	0.13108	T	0.6	-30.9908	14.805	0.69945	0.0:0.0:1.0:0.0	.	287	Q8IWZ5	TRI42_HUMAN	K	287	ENSP00000286349:E287K	ENSP00000286349:E287K	E	+	1	0	TRIM42	141884511	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	3.140000	0.50585	2.567000	0.86603	0.561000	0.74099	GAG	TRIM42	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	G	NM_152616		140401821	1	no_errors	ENST00000286349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140401821	G	A	140401821	3	1	70	1	0	0	0	0	1	0	0	0	16548	1059	37	1	865	1	TRIM42	3	140401821	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		140401821	57620609	16	10334										
KCNAB1	7881	genome.wustl.edu	37	chr3	156249272	156249272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctgaacaactcattgaaaacCttggtgccattcaggcaagt	8	10	2	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:156249272C>T	ENST00000490337.1	+	13	1220	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	KCNAB1_ENST00000302490.8_Missense_Mutation_p.L368F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L357F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.L339F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L375F	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	386					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.L386F(1)|p.L375F(1)|p.L368F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATTGAAAACCTTGGTGCCAT	0.527																																																	3	Substitution - Missense(3)	cervix(3)											212	181	191					3																	156249272		2203	4300	6503	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1156C>T	3.37:g.156249272C>T	ENSP00000419952:p.Leu386Phe		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.L386F	ENST00000490337.1	37	c.1156	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	c	24.2	4.506211	0.85282	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.96	4.96	0.65561	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.62365	0.976;0.989;0.991;0.97;0.976	D;D;D;D;D	0.70716	0.965;0.962;0.97;0.92;0.965	T	0.66532	-0.5900	10	0.62326	D	0.03	-1.9905	18.2074	0.89859	0.0:1.0:0.0:0.0	.	357;339;368;375;386	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	F	386;357;375;368;339	ENSP00000419952:L386F;ENSP00000374287:L357F;ENSP00000418956:L375F;ENSP00000305858:L368F;ENSP00000374285:L339F	ENSP00000305858:L368F	L	+	1	0	KCNAB1	157731966	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.620000	0.67736	2.274000	0.75844	0.457000	0.33378	CTT	KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.527	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	C	NM_003471		156249272	1	no_errors	ENST00000490337	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156249272	C	T	156249272	3	4	70	1	0	0	0	0	1	0	0	0	8029	681	24	4	1677	4	KCNAB1	3	156249272	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	15847451	156249272	41773158	17	10335										
SLITRK3	22865	genome.wustl.edu	37	chr3	164907457	164907457	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctctttgcagttgacagtcaAgccaaggtcattgatgtgca	10	9	3	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:164907457A>C	ENST00000475390.1	-	2	1605	c.1162T>G	c.(1162-1164)Ttg>Gtg	p.L388V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L388V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	388	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L388V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGACAGTCAAGCCAAGGTCA	0.448										HNSCC(40;0.11)																																							1	Substitution - Missense(1)	cervix(1)											159	159	159					3																	164907457		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1162T>G	3.37:g.164907457A>C	ENSP00000420091:p.Leu388Val		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L388V	ENST00000475390.1	37	c.1162	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686436	0.47991	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51574	0.7;0.7	5.58	5.58	0.84498	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31210	N	0.008051	T	0.40791	0.1131	L	0.42744	1.35	0.47698	D	0.999492	P	0.51791	0.948	B	0.43701	0.428	T	0.39781	-0.9597	10	0.59425	D	0.04	-10.2327	8.2027	0.31434	0.8869:0.0:0.1131:0.0	.	388	O94933	SLIK3_HUMAN	V	388	ENSP00000420091:L388V;ENSP00000241274:L388V	ENSP00000241274:L388V	L	-	1	2	SLITRK3	166390151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.068000	0.41471	2.343000	0.79666	0.533000	0.62120	TTG	SLITRK3	-	NULL		0.448	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	A	NM_014926		164907457	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	missense	SNP	1.000	C	C	164907457	A	C	164907457	3	2	70	1	0	0	0	0	1	0	0	0	14774	69	3	5	1775	5	SLITRK3	3	164907457	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	8658185	164907457	33114973	18	10336										
KLHL6	89857	genome.wustl.edu	37	chr3	183273417	183273417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cacatcacccatggtccaggCgcccctttgtcctgccatca	7	18	2	0	rs376100820		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:183273417C>T	ENST00000341319.3	-	1	60	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	9					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.A9T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGTCCAGGCGCCCCTTTGT	0.587																																																	1	Substitution - Missense(1)	cervix(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	69	76	74		25	-10.8	0	3		74	0,8600		0,0,4300	no	missense	KLHL6	NM_130446.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	9/622	183273417	1,13005	2203	4300	6503	SO:0001583	missense	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.25G>A	3.37:g.183273417C>T	ENSP00000341342:p.Ala9Thr		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A9T	ENST00000341319.3	37	c.25	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125594	0.06795	2.27E-4	0.0	ENSG00000172578	ENST00000341319	T	0.73681	-0.77	5.54	-10.8	0.00216	.	.	.	.	.	T	0.43344	0.1243	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17992	-1.0351	9	0.21540	T	0.41	.	1.4112	0.02292	0.325:0.2718:0.0801:0.3231	.	9	Q8WZ60	KLHL6_HUMAN	T	9	ENSP00000341342:A9T	ENSP00000341342:A9T	A	-	1	0	KLHL6	184756111	0.000000	0.05858	0.005000	0.12908	0.183000	0.23260	-2.759000	0.00787	-1.823000	0.01210	-0.762000	0.03455	GCC	KLHL6	-	NULL		0.587	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	C	NM_130446		183273417	-1	no_errors	ENST00000341319	ensembl	human	known	70_37	missense	SNP	0.001	T	T	183273417	C	T	183273417	3	4	70	1	0	0	0	0	1	0	0	0	8413	768	27	2	1868	2	KLHL6	3	183273417	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	18365960	183273417	14749013	19	10337										
FBXO45	200933	genome.wustl.edu	37	chr3	196304665	196304665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	agttttccacagtgcaacaaCgcaccaaaatatcaggtgag	8	10	1	1	rs573601854	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:196304665C>T	ENST00000311630.6	+	2	957	c.660C>T	c.(658-660)aaC>aaT	p.N220N	FBXO45_ENST00000440469.1_Silent_p.N41N	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.N220N(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGTGCAACAACGCACCAAAAT	0.403													C|||	2	0.000399361	0	0	5008	,	,		15429	0.001		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											51	50	50					3																	196304665		1917	4126	6043	SO:0001819	synonymous_variant	200933			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.660C>T	3.37:g.196304665C>T			A6NF90|D3DXB5	Silent	SNP	pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like	p.N220	ENST00000311630.6	37	c.660	CCDS46985.1	3																																																																																			FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.403	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	C			196304665	1	no_errors	ENST00000311630	ensembl	human	known	70_37	silent	SNP	1.000	T	T	196304665	C	T	196304665	2	4	70	1	0	0	0	0	0	0	0	1	5772	535	19	2		2	FBXO45	3	196304665	Silent	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	13031248	196304665	1717765	20	10338										
FRAS1	80144	genome.wustl.edu	37	chr4	79373445	79373445	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	accaggacagtgggcctacaGaattgatctacagaatcacc	9	11	2	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr4:79373445G>A	ENST00000264895.6	+	47	7140	c.6700G>A	c.(6700-6702)Gaa>Aaa	p.E2234K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2234					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E2234K(1)|p.E2235K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGCCTACAGAATTGATCTA	0.473																																																	2	Substitution - Missense(2)	cervix(2)											61	62	62					4																	79373445		1968	4151	6119	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6700G>A	4.37:g.79373445G>A	ENSP00000264895:p.Glu2234Lys		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E2234K	ENST00000264895.6	37	c.6700	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.215|8.215	0.801175|0.801175	0.16397|0.16397	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.34859|.	1.34|.	5.84|5.84	4.09|4.09	0.47781|0.47781	.|.	0.462816|.	0.23690|.	N|.	0.045522|.	T|T	0.46521|0.46521	0.1397|0.1397	L|L	0.45422|0.45422	1.42|1.42	0.30732|0.30732	N|N	0.747077|0.747077	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.49244|0.49244	-0.8960|-0.8960	10|5	0.54805|.	T|.	0.06|.	.|.	10.9131|10.9131	0.47120|0.47120	0.0696:0.262:0.6684:0.0|0.0696:0.262:0.6684:0.0	.|.	2234|.	E9PHH6|.	.|.	K|K	2234|462	ENSP00000264895:E2234K|.	ENSP00000264895:E2234K|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79592469|79592469	0.988000|0.988000	0.35896|0.35896	0.012000|0.012000	0.15200|0.15200	0.018000|0.018000	0.09664|0.09664	3.720000|3.720000	0.54933|0.54933	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GAA|AGA	FRAS1	-	superfamily_Cadherin-like		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79373445	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.115	A	A	79373445	G	A	79373445	3	1	70	1	0	0	0	0	1	0	0	0	6060	943	33	1	6961	1	FRAS1	4	79373445	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		79373445	111780831	21	10339										
C6	729	genome.wustl.edu	37	chr5	41176763	41176763	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	aaggtgcagatctttagcttTcgttgtgaagtttaagactt	10	5	1	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr5:41176763T>A	ENST00000263413.3	-	8	1246	c.982A>T	c.(982-984)Aaa>Taa	p.K328*	C6_ENST00000337836.5_Nonsense_Mutation_p.K328*|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	328	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K328*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTTTAGCTTTCGTTGTGAAG	0.338																																																	1	Substitution - Nonsense(1)	cervix(1)											110	111	111					5																	41176763		2203	4300	6503	SO:0001587	stop_gained	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.982A>T	5.37:g.41176763T>A	ENSP00000263413:p.Lys328*			Nonsense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.K328*	ENST00000263413.3	37	c.982	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	39	7.501667	0.98322	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.65	4.46	0.54185	.	0.129499	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.1848	12.9021	0.58130	0.0:0.0:0.1357:0.8643	.	.	.	.	X	328	.	ENSP00000263413:K328X	K	-	1	0	C6	41212520	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	5.518000	0.67068	1.118000	0.41863	0.533000	0.62120	AAA	C6	-	pfam_MACPF,smart_MACPF		0.338	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	T			41176763	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	41176763	T	A	41176763	4	1	70	1	0	0	0	0	0	1	0	0	2320	1792	62	5	1866	5	C6	5	41176763	Nonsense_Mutation	SNP	T	TCGA-EA-A1QT-01A-11D-A14W-08		41176763	139738497	22	10340										
NSD1	64324	genome.wustl.edu	37	chr5	176687059	176687059	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cttttgcctggctgctgggtCaaagatccttgcatctaata	9	10	2	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr5:176687059C>G	ENST00000439151.2	+	14	5081	c.5036C>G	c.(5035-5037)tCa>tGa	p.S1679*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1576*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1410*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1410*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1679					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S1679*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGCTGGGTCAAAGATCCTT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Nonsense(2)	cervix(2)											128	117	121					5																	176687059		2203	4300	6503	SO:0001587	stop_gained	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5036C>G	5.37:g.176687059C>G	ENSP00000395929:p.Ser1679*		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1679*	ENST00000439151.2	37	c.5036	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	44	10.987353	0.99499	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.783	0.96424	0.0:1.0:0.0:0.0	.	.	.	.	X	1410;1679;1410;1576	.	ENSP00000343209:S1410X	S	+	2	0	NSD1	176619665	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.281000	0.72632	2.752000	0.94435	0.467000	0.42956	TCA	NSD1	-	smart_Znf_PHD		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176687059	1	no_errors	ENST00000439151	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	176687059	C	G	176687059	4	3	70	1	0	0	0	0	0	1	0	0	10693	838	29	1	5086	1	NSD1	5	176687059	Nonsense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	135510296	176687059	4228201	23	10341										
NOTCH4	4855	genome.wustl.edu	37	chr6	32190320	32190320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gcatgcaggagcactgtgggCggcccgaggcctggatgtgg	19	10	0	0	rs377458854		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr6:32190320C>T	ENST00000375023.3	-	3	557	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	140	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R140H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCACTGTGGGCGGCCCGAGGC	0.642													C|||	1	0.000199681	0	0	5008	,	,		18424	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	2,4388		0,2,2193	26	29	28		419	-1.8	1	6		28	0,8588		0,0,4294	no	missense	NOTCH4	NM_004557.3	29	0,2,6487	TT,TC,CC		0.0,0.0456,0.0154	probably-damaging	140/2004	32190320	2,12976	2195	4294	6489	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.419G>A	6.37:g.32190320C>T	ENSP00000364163:p.Arg140His		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.R140H	ENST00000375023.3	37	c.419	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	6.164	0.398368	0.11696	4.56E-4	0.0	ENSG00000204301	ENST00000375023	T	0.09445	2.98	4.14	-1.82	0.07857	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.589266	0.14478	N	0.317143	T	0.01765	0.0056	N	0.21448	0.665	0.09310	N	1	B;B	0.20887	0.049;0.012	B;B	0.14578	0.011;0.005	T	0.42548	-0.9445	10	0.62326	D	0.03	.	3.8831	0.09086	0.2829:0.4326:0.0:0.2845	.	140;140	Q6P3V5;Q99466	.;NOTC4_HUMAN	H	140	ENSP00000364163:R140H	ENSP00000364163:R140H	R	-	2	0	NOTCH4	32298298	0.000000	0.05858	0.964000	0.40570	0.942000	0.58702	-1.159000	0.03150	-0.243000	0.09653	-0.254000	0.11334	CGC	NOTCH4	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32190320	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.000	T	T	32190320	C	T	32190320	3	4	70	1	0	0	0	0	1	0	0	0	10575	768	27	2	5704	2	NOTCH4	6	32190320	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08		32190320	138924747	24	10342										
RWDD2A	112611	genome.wustl.edu	37	chr6	83904315	83904315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ggtatttggaaggcacaaggGaggcgctgccaccaaaaatc	13	9	0	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr6:83904315G>A	ENST00000369724.4	+	2	350	c.145G>A	c.(145-147)Gag>Aag	p.E49K	PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_5'UTR	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	49	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.E49K(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		AGGCACAAGGGAGGCGCTGCC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											99	98	98					6																	83904315		2203	4300	6503	SO:0001583	missense	112611			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.145G>A	6.37:g.83904315G>A	ENSP00000358739:p.Glu49Lys		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.E49K	ENST00000369724.4	37	c.145	CCDS4998.1	6	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085143	0.55861	.	.	ENSG00000013392	ENST00000369724	T	0.21543	2.0	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.243794	0.35407	N	0.003232	T	0.07503	0.0189	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.10451	-1.0629	10	0.09590	T	0.72	-24.9954	17.8527	0.88752	0.0:0.0:1.0:0.0	.	49	Q9UIY3	RWD2A_HUMAN	K	49	ENSP00000358739:E49K	ENSP00000358739:E49K	E	+	1	0	RWDD2A	83961034	0.999000	0.42202	0.990000	0.47175	0.805000	0.45488	3.657000	0.54474	2.683000	0.91414	0.655000	0.94253	GAG	RWDD2A	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain		0.413	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2A	HGNC	protein_coding	OTTHUMT00000041348.2	G	NM_033411		83904315	1	no_errors	ENST00000369724	ensembl	human	known	70_37	missense	SNP	0.675	A	A	83904315	G	A	83904315	3	1	70	1	0	0	0	0	1	0	0	0	13785	1175	41	1	147	1	RWDD2A	6	83904315	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	51713995	83904315	87210752	25	10343										
PARK2	5071	genome.wustl.edu	37	chr6	162864488	162864488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cactgggaaaccatggctggAgttgaacctgacaaacactg	11	10	0	2	rs111356273		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr6:162864488A>C	ENST00000366898.1	-	2	127	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A	PARK2_ENST00000366892.1_Missense_Mutation_p.S9A|PARK2_ENST00000366897.1_Missense_Mutation_p.S9A|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.S9A	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	9	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.S9A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCATGGCTGGAGTTGAACCTG	0.512																																																	1	Substitution - Missense(1)	cervix(1)											113	96	102					6																	162864488		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.25T>G	6.37:g.162864488A>C	ENSP00000355865:p.Ser9Ala		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr	p.S9A	ENST00000366898.1	37	c.25	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855613	0.71834	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.076069	0.56097	D	0.000029	D	0.97408	0.9152	M	0.69823	2.125	0.34234	D	0.676892	D;P;D;D	0.76494	0.998;0.88;0.999;0.998	D;D;D;D	0.80764	0.994;0.913;0.954;0.954	D	0.98925	1.0785	10	0.62326	D	0.03	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	9;9;9;9	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	A	9;9;9;9;8	ENSP00000355865:S9A;ENSP00000355863:S9A;ENSP00000355862:S9A;ENSP00000355858:S9A	ENSP00000355858:S9A	S	-	1	0	PARK2	162784478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.228000	0.78079	2.263000	0.75096	0.533000	0.62120	TCC	PARK2	-	pfam_SUMO,smart_Ubiquitin,pirsf_Parkin,pfscan_Ubiquitin_supergroup		0.512	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	A			162864488	-1	no_errors	ENST00000366898	ensembl	human	known	70_37	missense	SNP	1.000	C	C	162864488	A	C	162864488	3	2	70	1	0	0	0	0	1	0	0	0	11473	304	11	5	1416	5	PARK2	6	162864488	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	78960173	162864488	8250579	26	10344										
ABCB5	340273	genome.wustl.edu	37	chr7	20685645	20685645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	aaaggactatagcttcaaaaGtgtctcttggtgctgtgtac	10	7	2	0	rs373260063		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:20685645G>T	ENST00000404938.2	+	9	1517	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	289	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.V289L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCTTCAAAAGTGTCTCTTGG	0.383																																																	1	Substitution - Missense(1)	cervix(1)						G	LEU/VAL	1,3135		0,1,1567	121	108	112		865	1	1	7		112	0,7164		0,0,3582	no	missense	ABCB5	NM_001163941.1	32	0,1,5149	TT,TG,GG		0.0,0.0319,0.0097	benign	289/1258	20685645	1,10299	1568	3582	5150	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.865G>T	7.37:g.20685645G>T	ENSP00000384881:p.Val289Leu		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V289L	ENST00000404938.2	37	c.865	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	0.757	-0.770648	0.02974	3.19E-4	0.0	ENSG00000004846	ENST00000404938	D	0.87491	-2.26	4.79	0.978	0.19740	.	.	.	.	.	T	0.62708	0.2450	N	0.02876	-0.465	0.39744	D	0.971788	B	0.02656	0.0	B	0.15052	0.012	T	0.52866	-0.8518	9	0.06494	T	0.89	.	4.6039	0.12366	0.0:0.438:0.3093:0.2528	.	289	A7BKA4	.	L	289	ENSP00000384881:V289L	ENSP00000384881:V289L	V	+	1	0	ABCB5	20652170	0.000000	0.05858	0.998000	0.56505	0.305000	0.27757	-1.468000	0.02350	0.176000	0.19873	-0.128000	0.14901	GTG	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.383	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	G	NM_178559		20685645	1	no_errors	ENST00000404938	ensembl	human	putative	70_37	missense	SNP	0.650	T	T	20685645	G	T	20685645	3	4	70	1	0	0	0	0	1	0	0	0	44	1029	36	4	895	4	ABCB5	7	20685645	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		20685645	138453018	27	10345										
SRRM3	222183	genome.wustl.edu	37	chr7	75896635	75896635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cagccagcggtccagcggaaGccggtcgccttccccgtcgg	14	17	0	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:75896635G>A	ENST00000326382.8	+	11	1097	c.890G>A	c.(889-891)aGc>aAc	p.S297N	SRRM3_ENST00000388802.4_Missense_Mutation_p.S297N|SRRM3_ENST00000464752.1_3'UTR	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	297	Arg-rich.|Ser-rich.							p.S297N(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCCAGCGGAAGCCGGTCGCCT	0.756																																																	1	Substitution - Missense(1)	cervix(1)											7	9	9					7																	75896635		1413	3326	4739	SO:0001583	missense	222183			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.890G>A	7.37:g.75896635G>A	ENSP00000325298:p.Ser297Asn		A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S297N	ENST00000326382.8	37	c.890		7	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624523	0.66901	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02525	4.26	3.96	3.96	0.45880	.	0.509864	0.17688	N	0.165379	T	0.09686	0.0238	L	0.53249	1.67	0.35518	D	0.801191	D	0.57899	0.981	D	0.65140	0.932	T	0.42241	-0.9463	10	0.18710	T	0.47	-4.8593	14.5831	0.68305	0.0:0.0:1.0:0.0	.	297	A6NNA2	SRRM3_HUMAN	N	297	ENSP00000373454:S297N	ENSP00000325298:S297N	S	+	2	0	SRRM3	75734571	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.735000	0.68587	1.746000	0.51805	0.400000	0.26472	AGC	SRRM3	-	NULL		0.756	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	G	NM_001110199		75896635	1	no_errors	ENST00000388802	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75896635	G	A	75896635	3	1	70	1	0	0	0	0	1	0	0	0	15200	971	34	4	928	4	SRRM3	7	75896635	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	55210990	75896635	83242028	28	10346										
TRIM56	81844	genome.wustl.edu	37	chr7	100732123	100732123	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gacaagcggtccccccggatCaccgggctctgtcccttcgg	12	17	2	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:100732123C>T	ENST00000306085.6	+	3	1827	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	510					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I510I(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCCCCGGATCACCGGGCTCT	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)												2	Substitution - coding silent(2)	cervix(2)											57	66	63					7																	100732123		2005	4162	6167	SO:0001819	synonymous_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1530C>T	7.37:g.100732123C>T			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.I510	ENST00000306085.6	37	c.1530	CCDS43625.1	7																																																																																			TRIM56	-	NULL		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	C	NM_030961		100732123	1	no_errors	ENST00000306085	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100732123	C	T	100732123	2	4	70	1	0	0	0	0	0	0	0	1	16561	816	29	1		1	TRIM56	7	100732123	Silent	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	24835488	100732123	58406540	29	10347										
BRAF	673	genome.wustl.edu	37	chr7	140482933	140482933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	caggtaatgaggcaggggggGtagcagacaaacctgtggtt	17	6	0	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:140482933G>A	ENST00000288602.6	-	10	1262	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	401					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T401I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGCAGGGGGGGTAGCAGACAA	0.438		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	1	Substitution - Missense(1)	cervix(1)											56	54	55					7																	140482933		2203	4300	6503	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1202C>T	7.37:g.140482933G>A	ENSP00000288602:p.Thr401Ile		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.T401I	ENST00000288602.6	37	c.1202	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.776073|3.776073	0.70107|0.70107	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|T	.|0.76060	.|-0.99	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70245|0.70245	0.3202|0.3202	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|B	.|0.25272	.|0.122	.|B	.|0.19666	.|0.026	T|T	0.64639|0.64639	-0.6360|-0.6360	5|10	.|0.41790	.|T	.|0.15	.|.	20.1047|20.1047	0.97888|0.97888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|401	.|P15056	.|BRAF_HUMAN	S|I	9|401	.|ENSP00000288602:T401I	.|ENSP00000288602:T401I	P|T	-|-	1|2	0|0	BRAF|BRAF	140129402|140129402	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.975000|0.975000	0.68041|0.68041	9.230000|9.230000	0.95299|0.95299	2.762000|2.762000	0.94881|0.94881	0.655000|0.655000	0.94253|0.94253	CCC|ACC	BRAF	-	NULL		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	G	NM_004333		140482933	-1	no_errors	ENST00000288602	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140482933	G	A	140482933	3	1	70	1	0	0	0	0	1	0	0	0	1499	1261	44	4	1134	4	BRAF	7	140482933	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	39750810	140482933	18655730	30	10348										
MTMR9	66036	genome.wustl.edu	37	chr8	11162520	11162520	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tattaccacaaaaaaaatggGatggtaagtgcacagcacta	8	7	0	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr8:11162520G>A	ENST00000221086.3	+	4	1061	c.588G>A	c.(586-588)ggG>ggA	p.G196G	MTMR9_ENST00000526292.1_Silent_p.G111G	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	196	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.G196G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAAAAAATGGGATGGTAAGTG	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											94	80	85					8																	11162520		2203	4300	6503	SO:0001819	synonymous_variant	66036			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.588G>A	8.37:g.11162520G>A			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	pfam_Myotub-related	p.G196	ENST00000221086.3	37	c.588	CCDS5979.1	8																																																																																			MTMR9	-	pfam_Myotub-related		0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	G	NM_015458		11162520	1	no_errors	ENST00000221086	ensembl	human	known	70_37	silent	SNP	0.999	A	A	11162520	G	A	11162520	2	1	70	1	0	0	0	0	0	0	0	1	9973	1161	41	1		1	MTMR9	8	11162520	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		11162520	135201502	31	10349										
ST18	9705	genome.wustl.edu	37	chr8	53092776	53092776	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gcttttgggctgtagtgtcgGggcttcattagcagggattt	15	6	1	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr8:53092776G>C	ENST00000276480.7	-	9	866	c.183C>G	c.(181-183)ccC>ccG	p.P61P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	61					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P61P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTAGTGTCGGGGCTTCATTA	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											251	213	226					8																	53092776		2203	4300	6503	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.183C>G	8.37:g.53092776G>C			Q17RY1	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.P61	ENST00000276480.7	37	c.183	CCDS6149.1	8																																																																																			ST18	-	NULL		0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	G			53092776	-1	no_errors	ENST00000276480	ensembl	human	known	70_37	silent	SNP	1.000	C	C	53092776	G	C	53092776	2	2	70	1	0	0	0	0	0	0	0	1	15242	1219	43	4		4	ST18	8	53092776	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	41930256	53092776	93271246	32	10350										
ABL1	25	genome.wustl.edu	37	chr9	133753889	133753891	+	In_Frame_Del	DEL	AGA	AGA	-													0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ccaggtgtatgagctgctagAgaaggactaccgcatggagc							TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr9:133753889_133753891delAGA	ENST00000318560.5	+	8	1739_1741	c.1358_1360delAGA	c.(1357-1362)gagaag>gag	p.K454del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAGCTGCTAGAGAAGGACTACCG	0.507			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0																																										SO:0001651	inframe_deletion	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1358_1360delAGA	9.37:g.133753889_133753891delAGA	ENSP00000323315:p.Lys454del		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K473in_frame_del	ENST00000318560.5	37	c.1415_1417	CCDS35166.1	9																																																																																			ABL1	-	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,pfscan_Prot_kinase_cat_dom		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	AGA	NM_007313		133753891	1	no_errors	ENST00000372348	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	133753891	AGA	-	133753889	7	5	70	1	0	1	0	1	0	0	0	0	92	304	11	0	1528	0	ABL1	9	133753889	In_Frame_Del	DEL	AGA	TCGA-EA-A1QT-01A-11D-A14W-08		133753889	7459542	33	10351										
LYZL1	84569	genome.wustl.edu	37	chr10	29581549	29581549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tcttccagatcaacagcttcGcgtggtgcagacgcggaaag	12	11	2	2	rs146364281		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:29581549G>A	ENST00000375500.3	+	3	436	c.379G>A	c.(379-381)Gcg>Acg	p.A127T		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	81					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.A127T(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				CAACAGCTTCGCGTGGTGCAG	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		18697	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)						G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	168	137	147		379	3.3	0.3	10	dbSNP_134	147	0,8600		0,0,4300	no	missense	LYZL1	NM_032517.4	58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	127/195	29581549	3,13003	2203	4300	6503	SO:0001583	missense	84569				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.379G>A	10.37:g.29581549G>A	ENSP00000364650:p.Ala127Thr		Q5T921|Q8WW16	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.A127T	ENST00000375500.3	37	c.379	CCDS31174.1	10	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313808	0.05422	6.81E-4	0.0	ENSG00000120563	ENST00000375500	T	0.74737	-0.87	4.4	3.26	0.37387	.	0.517197	0.19602	N	0.110371	T	0.38241	0.1033	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.28530	T	0.3	-12.5448	7.0642	0.25143	0.8924:0.0:0.1076:0.0	.	127	Q6UWQ5-2	.	T	127	ENSP00000364650:A127T	ENSP00000364650:A127T	A	+	1	0	LYZL1	29621555	0.003000	0.15002	0.347000	0.25668	0.055000	0.15305	1.097000	0.30988	0.810000	0.34279	-0.238000	0.12139	GCG	LYZL1	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22		0.557	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL1	HGNC	protein_coding	OTTHUMT00000047381.1	G	NM_032517		29581549	1	no_errors	ENST00000375500	ensembl	human	known	70_37	missense	SNP	0.191	A	A	29581549	G	A	29581549	3	1	70	1	0	0	0	0	1	0	0	0	9154	1087	38	2	389	2	LYZL1	10	29581549	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		29581549	105953198	34	10352										
ZNF37A	7587	genome.wustl.edu	37	chr10	38403718	38403718	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	agggatgtgactgtgggcttCactcaagaggagtggcagca	16	7	2	2	rs149074366		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:38403718C>T	ENST00000361085.5	+	5	396	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Silent_p.F17F	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F17F(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CTGTGGGCTTCACTCAAGAGG	0.478																																																	2	Substitution - coding silent(2)	cervix(2)						C	,,	0,4406		0,0,2203	140	129	133		51,51,51	0.6	0	10	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	17/562,17/562,17/562	38403718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.51C>T	10.37:g.38403718C>T			B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F17	ENST00000361085.5	37	c.51	CCDS31183.1	10																																																																																			ZNF37A	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.478	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	C	NM_003421		38403718	1	no_errors	ENST00000351773	ensembl	human	known	70_37	silent	SNP	0.220	T	T	38403718	C	T	38403718	2	4	70	1	0	0	0	0	0	0	0	1	17902	825	29	1		1	ZNF37A	10	38403718	Silent	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	8822169	38403718	97131029	35	10353										
CTNNA3	29119	genome.wustl.edu	37	chr10	68979626	68979626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctctgatttggagattttaaGtcctgagaaggtaaataaaa	9	4	1	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:68979626G>T	ENST00000433211.2	-	6	756	c.582C>A	c.(580-582)gaC>gaA	p.D194E	CTNNA3_ENST00000545309.1_Missense_Mutation_p.D194E|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D194E	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.D194E(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GAGATTTTAAGTCCTGAGAAG	0.363																																																	2	Substitution - Missense(2)	cervix(2)											57	61	60					10																	68979626		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.582C>A	10.37:g.68979626G>T	ENSP00000389714:p.Asp194Glu			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D194E	ENST00000433211.2	37	c.582	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	9.867	1.198022	0.22037	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.26660	1.72;1.72;1.72	5.33	2.49	0.30216	.	0.000000	0.51477	D	0.000087	T	0.17152	0.0412	N	0.25332	0.735	0.32388	N	0.553673	P;P;P;B	0.42735	0.788;0.788;0.498;0.163	P;P;B;B	0.47470	0.548;0.548;0.318;0.165	T	0.19063	-1.0317	10	0.09338	T	0.73	-13.2817	4.0008	0.09579	0.3334:0.0:0.5104:0.1562	.	194;194;194;194	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	E	194	ENSP00000389714:D194E;ENSP00000362849:D194E;ENSP00000441444:D194E	ENSP00000362849:D194E	D	-	3	2	CTNNA3	68649632	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	1.602000	0.36783	0.256000	0.21614	-0.229000	0.12294	GAC	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.363	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68979626	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	0.997	T	T	68979626	G	T	68979626	3	4	70	1	0	0	0	0	1	0	0	0	4019	1020	36	4	2157	4	CTNNA3	10	68979626	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	30575908	68979626	66555121	36	10354										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72434400	72434400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cgcttcctctcccacgtggtGtctggcccagcagcagcctc	10	18	2	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:72434400G>A	ENST00000373207.1	+	2	171	c.171G>A	c.(169-171)gtG>gtA	p.V57V	ADAMTS14_ENST00000373208.1_Silent_p.V57V	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	57					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCACGTGGTGTCTGGCCCAG	0.617																																																	0													55	51	53					10																	72434400		2203	4300	6503	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.171G>A	10.37:g.72434400G>A			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.V57	ENST00000373207.1	37	c.171	CCDS7306.1	10																																																																																			ADAMTS14	-	pfam_Peptidase_M12B_N		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72434400	1	no_errors	ENST00000373208	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72434400	G	A	72434400	2	1	70	1	0	0	0	0	0	0	0	1	259	1364	48	4		4	ADAMTS14	10	72434400	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	3454774	72434400	63100347	37	10355										
MUC2	4583	genome.wustl.edu	37	chr11	1078304	1078304	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctggagtttgggaacatgcaGaagatcaaccagcccgatgt	12	9	1	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:1078304G>A	ENST00000441003.2	+	5	618	c.591G>A	c.(589-591)caG>caA	p.Q197Q	MUC2_ENST00000359061.5_Silent_p.Q197Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	197	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.Q197Q(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAACATGCAGAAGATCAACC	0.662																																																	2	Substitution - coding silent(2)	cervix(2)											74	87	83					11																	1078304		2068	4193	6261	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.591G>A	11.37:g.1078304G>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Q197	ENST00000441003.2	37	c.591		11																																																																																			MUC2	-	NULL		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1078304	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1078304	G	A	1078304	2	1	70	1	0	0	0	0	0	0	0	1	9998	933	33	1		1	MUC2	11	1078304	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		1078304	133928212	38	10356										
KCNA4	3739	genome.wustl.edu	37	chr11	30034064	30034064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gagcccccaccagaacccccGctaccttcgacagcagctgt	8	19	0	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:30034064G>A	ENST00000328224.6	-	2	1395	c.162C>T	c.(160-162)agC>agT	p.S54S	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	54					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.S54S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAGAACCCCCGCTACCTTCGA	0.697																																																	1	Substitution - coding silent(1)	cervix(1)																																								SO:0001819	synonymous_variant	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.162C>T	11.37:g.30034064G>A				Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S54	ENST00000328224.6	37	c.162	CCDS41629.1	11																																																																																			KCNA4	-	pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4		0.697	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	G	NM_002233		30034064	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	silent	SNP	0.012	A	A	30034064	G	A	30034064	2	1	70	1	0	0	0	0	0	0	0	1	8025	1078	38	2		2	KCNA4	11	30034064	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	28955760	30034064	104972452	39	10357										
OR5M10	390167	genome.wustl.edu	37	chr11	56344766	56344766	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tacatgtaaggcacagtgacCagagagatgcaaatgttctt	10	7	1	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:56344766C>A	ENST00000526812.2	-	1	497	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCACAGTGACCAGAGAGATGC	0.438																																																	1	Substitution - coding silent(1)	cervix(1)											180	171	174					11																	56344766		2019	4202	6221	SO:0001819	synonymous_variant	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.432G>T	11.37:g.56344766C>A			B9EIL9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L144	ENST00000526812.2	37	c.432	CCDS53630.1	11																																																																																			OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.438	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	C	NM_001004741		56344766	-1	no_errors	ENST00000526812	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56344766	C	A	56344766	2	1	70	1	0	0	0	0	0	0	0	1	11197	581	21	4		4	OR5M10	11	56344766	Silent	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	26310702	56344766	78661750	40	10358										
TMEM132A	54972	genome.wustl.edu	37	chr11	60703567	60703567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cctgccgccggggccgccacCgtgtgcctctggcctctggc	14	19	2	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:60703567C>T	ENST00000453848.2	+	11	2418	c.2260C>T	c.(2260-2262)Cgt>Tgt	p.R754C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R755C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	754	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R755C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGCCGCCACCGTGTGCCTCT	0.756																																																	2	Substitution - Missense(2)	cervix(2)											11	14	13					11																	60703567		2179	4225	6404	SO:0001583	missense	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2260C>T	11.37:g.60703567C>T	ENSP00000405823:p.Arg754Cys		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.R755C	ENST00000453848.2	37	c.2263	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589659	0.66105	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.14640	2.49;2.49	5.25	5.25	0.73442	.	0.374894	0.25935	N	0.027350	T	0.30978	0.0782	L	0.55481	1.735	0.48288	D	0.999622	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.00870	-1.1533	10	0.87932	D	0	.	11.8108	0.52181	0.1751:0.8249:0.0:0.0	.	754;755	Q24JP5;Q24JP5-2	T132A_HUMAN;.	C	505;754;755	ENSP00000405823:R754C;ENSP00000005286:R755C	ENSP00000005286:R755C	R	+	1	0	TMEM132A	60460143	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.229000	0.17833	2.620000	0.88729	0.561000	0.74099	CGT	TMEM132A	-	NULL		0.756	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	C	NM_017870		60703567	1	no_errors	ENST00000005286	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60703567	C	T	60703567	3	4	70	1	0	0	0	0	1	0	0	0	16075	652	23	2	2305	2	TMEM132A	11	60703567	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	4358801	60703567	74302949	41	10359										
PHC1	1911	genome.wustl.edu	37	chr12	9089894	9089894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cagctcctctgacattgcccGtgccaagattcagggcaagt	10	13	2	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:9089894G>A	ENST00000543824.1	+	14	2932	c.2600G>A	c.(2599-2601)cGt>cAt	p.R867H	PHC1_ENST00000544916.1_Missense_Mutation_p.R867H|PHC1_ENST00000433083.2_Missense_Mutation_p.R822H|PHC1_ENST00000536844.1_Missense_Mutation_p.R473H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	867					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R867H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GACATTGCCCGTGCCAAGATT	0.522													G|||	1	0.000199681	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)																																								SO:0001583	missense	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2600G>A	12.37:g.9089894G>A	ENSP00000440674:p.Arg867His		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R867H	ENST00000543824.1	37	c.2600	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868802	0.72065	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.47869	1.77;1.77;1.75;1.77;0.83	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	T	0.55816	0.1944	L	0.36672	1.1	0.50813	D	0.999898	D	0.71674	0.998	P	0.57152	0.814	T	0.53049	-0.8493	10	0.44086	T	0.13	-3.7058	19.1776	0.93609	0.0:0.0:1.0:0.0	.	867	P78364	PHC1_HUMAN	H	867;867;822;867;473	ENSP00000440674:R867H;ENSP00000251757:R867H;ENSP00000399194:R822H;ENSP00000437659:R867H;ENSP00000440488:R473H	ENSP00000251757:R867H	R	+	2	0	PHC1	8981161	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.277000	0.58939	2.624000	0.88883	0.655000	0.94253	CGT	PHC1	-	NULL		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	G	NM_004426		9089894	1	no_errors	ENST00000251757	ensembl	human	known	70_37	missense	SNP	0.999	A	A	9089894	G	A	9089894	3	1	70	1	0	0	0	0	1	0	0	0	11840	1145	40	2	2646	2	PHC1	12	9089894	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		9089894	124762001	42	10360										
PRPF40B	25766	genome.wustl.edu	37	chr12	50027802	50027802	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctgagccaggtgggagtgaaGattgtgatgtgttggaggcc	18	5	0	4			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:50027802G>A	ENST00000380281.1	+	9	737	c.673G>A	c.(673-675)Gat>Aat	p.D225N	PRPF40B_ENST00000548825.2_Missense_Mutation_p.D247N|PRPF40B_ENST00000261897.1_Missense_Mutation_p.D219N			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	225					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.D225N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TGGGAGTGAAGATTGTGATGT	0.677																																																	1	Substitution - Missense(1)	cervix(1)											52	60	57					12																	50027802		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.673G>A	12.37:g.50027802G>A	ENSP00000369634:p.Asp225Asn		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.D225N	ENST00000380281.1	37	c.673		12	.	.	.	.	.	.	.	.	.	.	G	7.530	0.658418	0.14645	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.22743	1.95;1.94	4.76	4.76	0.60689	.	0.330357	0.26457	N	0.024273	T	0.16428	0.0395	N	0.08118	0	0.32701	N	0.512869	P;P;P	0.44659	0.753;0.84;0.84	B;P;P	0.49451	0.407;0.611;0.611	T	0.08006	-1.0743	9	.	.	.	-17.6521	13.4488	0.61158	0.0:0.0:1.0:0.0	.	225;219;225	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	N	219;225	ENSP00000261897:D219N;ENSP00000369634:D225N	.	D	+	1	0	PRPF40B	48314069	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.008000	0.63991	2.641000	0.89580	0.655000	0.94253	GAT	PRPF40B	-	NULL		0.677	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50027802	1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50027802	G	A	50027802	3	1	70	1	0	0	0	0	1	0	0	0	12599	942	33	1	707	1	PRPF40B	12	50027802	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	40937908	50027802	83824093	43	10361										
ZNF385A	25946	genome.wustl.edu	37	chr12	54764853	54764853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tgggcccgagcccacttcggGcctccagaattgtcttgtgc	12	14	1	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:54764853G>A	ENST00000338010.5	-	6	745	c.692C>T	c.(691-693)gCc>gTc	p.A231V	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Missense_Mutation_p.A150V|ZNF385A_ENST00000394313.2_Missense_Mutation_p.A211V|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A211V|ZNF385A_ENST00000546970.1_Missense_Mutation_p.A211V|ZNF385A_ENST00000551771.1_Missense_Mutation_p.A130V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	231	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A211V(2)|p.A231V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCACTTCGGGCCTCCAGAAT	0.602																																																	3	Substitution - Missense(3)	cervix(3)											61	68	66					12																	54764853		2203	4300	6503	SO:0001583	missense	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.692C>T	12.37:g.54764853G>A	ENSP00000338927:p.Ala231Val		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.A231V	ENST00000338010.5	37	c.692	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952050	0.92660	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937	T;T;T;T;T;T;T;T	0.50813	0.91;0.73;0.91;0.91;0.91;0.75;0.91;0.91	3.46	3.46	0.39613	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	L	0.52573	1.65	0.80722	D	1	D;B;D;D	0.76494	0.999;0.069;0.999;0.999	D;B;D;D	0.83275	0.996;0.084;0.994;0.994	T	0.61496	-0.7051	10	0.48119	T	0.1	-9.8781	12.8088	0.57628	0.0:0.0:1.0:0.0	.	130;211;211;211	Q96PM9-2;F8VRY0;Q96PM9;F1T0F1	.;.;Z385A_HUMAN;.	V	211;150;211;231;211;130;211;239	ENSP00000449161:A211V;ENSP00000293385:A150V;ENSP00000377849:A211V;ENSP00000338927:A231V;ENSP00000446913:A211V;ENSP00000447162:A130V;ENSP00000448466:A211V;ENSP00000448567:A239V	ENSP00000338927:A231V	A	-	2	0	ZNF385A	53051120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.030000	0.70903	1.937000	0.56155	0.491000	0.48974	GCC	ZNF385A	-	smart_Znf_U1		0.602	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	G	NM_015481		54764853	-1	no_errors	ENST00000338010	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54764853	G	A	54764853	3	1	70	1	0	0	0	0	1	0	0	0	17906	1203	42	4	480	4	ZNF385A	12	54764853	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	4737051	54764853	79087042	44	10362										
LRP1	4035	genome.wustl.edu	37	chr12	57559991	57559991	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gagtccaatgccacttgttcAggtgtggagcggggctcaga	15	9	2	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:57559991A>G	ENST00000243077.3	+	17	3262	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	932	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S932S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACTTGTTCAGGTGTGGAGC	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											54	45	48					12																	57559991		2203	4299	6502	SO:0001630	splice_region_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2797+1A>G	12.37:g.57559991A>G			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S932	ENST00000243077.3	37	c.2796	CCDS8932.1	12																																																																																			LRP1	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	A	NM_002332	Silent	57559991	1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	1.000	G	G	57559991	A	G	57559991	5	3	70	1	0	0	0	0	0	0	1	0	8974	202	7	5	2862	5	LRP1	12	57559991	Splice_Site	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	2795138	57559991	76291904	45	10363										
GLT1D1	144423	genome.wustl.edu	37	chr12	129467532	129467532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tgcattagaaaaggaaatcgTagtgaacggaagggaatacg	13	4	0	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:129467532T>A	ENST00000442111.2	+	12	1026	c.938T>A	c.(937-939)gTa>gAa	p.V313E	GLT1D1_ENST00000281703.6_Missense_Mutation_p.V233E|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V318E|GLT1D1_ENST00000542193.1_Missense_Mutation_p.V230E			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	313					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.V233E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAGGAAATCGTAGTGAACGGA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											197	178	184					12																	129467532		2203	4300	6503	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.938T>A	12.37:g.129467532T>A	ENSP00000394692:p.Val313Glu		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.V313E	ENST00000442111.2	37	c.938		12	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358024	0.24598	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	1.6	0.23607	.	0.128119	0.51477	D	0.000081	T	0.77054	0.4074	L	0.58428	1.81	0.24382	N	0.994785	P;P	0.51351	0.528;0.944	B;P	0.52957	0.234;0.714	T	0.66488	-0.5911	10	0.30078	T	0.28	-26.5673	7.9846	0.30205	0.0:0.2406:0.0:0.7594	.	318;233	F5H088;Q96MS3-2	.;.	E	313;233;318;230	ENSP00000394692:V313E;ENSP00000281703:V233E;ENSP00000438158:V318E;ENSP00000437500:V230E	ENSP00000281703:V233E	V	+	2	0	GLT1D1	128033485	0.990000	0.36364	0.075000	0.20258	0.000000	0.00434	1.209000	0.32357	0.092000	0.17331	-0.376000	0.06991	GTA	GLT1D1	-	pfam_Glyco_trans_1		0.428	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	T	NM_144669		129467532	1	no_errors	ENST00000442111	ensembl	human	known	70_37	missense	SNP	0.223	A	A	129467532	T	A	129467532	3	1	70	1	0	0	0	0	1	0	0	0	6484	1638	57	5	728	5	GLT1D1	12	129467532	Missense_Mutation	SNP	T	TCGA-EA-A1QT-01A-11D-A14W-08	71907541	129467532	4384363	46	10364										
PARP4	143	genome.wustl.edu	37	chr13	25021201	25021201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gacaaggagtcgatcattgaGaaacaaggacggcacctggg	14	8	1	1	rs201405094	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr13:25021201G>A	ENST00000381989.3	-	26	3343	c.3238C>T	c.(3238-3240)Ctc>Ttc	p.L1080F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1080				L -> R (in Ref. 1; AAD47250, 2; AAC62491 and 3; BAA11494). {ECO:0000305}.	cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L1080F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGATCATTGAGAAACAAGGAC	0.493													g|||	8	0.00159744	0	0.0029	5008	,	,		13787	0.001		0	False		,,,				2504	0.0051																1	Substitution - Missense(1)	skin(1)											67	51	56					13																	25021201		2203	4299	6502	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3238C>T	13.37:g.25021201G>A	ENSP00000371419:p.Leu1080Phe		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L1080F	ENST00000381989.3	37	c.3238	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	G	4.674	0.125355	0.08931	.	.	ENSG00000102699	ENST00000381989	T	0.01745	4.66	4.71	2.85	0.33270	.	0.325754	0.35262	N	0.003328	T	0.01092	0.0036	N	0.08118	0	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.47341	-0.9125	10	0.54805	T	0.06	-10.9305	5.5759	0.17222	0.0974:0.0:0.6231:0.2795	.	1080	Q9UKK3	PARP4_HUMAN	F	1080	ENSP00000371419:L1080F	ENSP00000371419:L1080F	L	-	1	0	PARP4	23919201	0.976000	0.34144	0.707000	0.30419	0.039000	0.13416	2.534000	0.45676	1.354000	0.45846	-0.149000	0.13747	CTC	PARP4	-	NULL		0.493	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	G	NM_006437		25021201	-1	no_errors	ENST00000381989	ensembl	human	known	70_37	missense	SNP	0.979	A	A	25021201	G	A	25021201	3	1	70	1	0	0	0	0	1	0	0	0	11487	942	33	1	1972	1	PARP4	13	25021201	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		25021201	90148677	47	10365										
PCDH9	5101	genome.wustl.edu	37	chr13	67800080	67800080	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cagcgcaccagaacggtgacGaagatcacaacaatgaccac	9	13	1	4			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr13:67800080G>A	ENST00000377865.2	-	1	2627	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	PCDH9_ENST00000456367.1_Silent_p.F831F|PCDH9_ENST00000328454.5_Silent_p.F831F|PCDH9_ENST00000544246.1_Silent_p.F831F|PCDH9_ENST00000377861.3_Silent_p.F831F			Q9HC56	PCDH9_HUMAN	protocadherin 9	831					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F831F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAACGGTGACGAAGATCACAA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											194	171	179					13																	67800080		2203	4300	6503	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2493C>T	13.37:g.67800080G>A			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F831	ENST00000377865.2	37	c.2493	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Protocadherin		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	G	NM_203487		67800080	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	silent	SNP	0.938	A	A	67800080	G	A	67800080	2	1	70	1	0	0	0	0	0	0	0	1	11542	1049	37	1		1	PCDH9	13	67800080	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	42778879	67800080	47369798	48	10366										
PARP2	10038	genome.wustl.edu	37	chr14	20818765	20818765	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cagaggaacttcagtgtttgGatgagatggggccgaggtaa	16	5	1	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr14:20818765G>C	ENST00000250416.5	+	5	471	c.444G>C	c.(442-444)tgG>tgC	p.W148C	PARP2_ENST00000527915.1_Missense_Mutation_p.W148C|PARP2_ENST00000429687.3_Missense_Mutation_p.W135C	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	148					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.W148C(1)|p.W99C(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAGTGTTTGGATGAGATGGG	0.408								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									2	Substitution - Missense(2)	cervix(2)											147	133	137					14																	20818765		1875	4113	5988	SO:0001583	missense	10038			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.444G>C	14.37:g.20818765G>C	ENSP00000250416:p.Trp148Cys		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.W148C	ENST00000250416.5	37	c.444	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915224	0.73098	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.18016	2.24;2.24;2.24	5.25	5.25	0.73442	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66356	-0.5944	10	0.87932	D	0	-9.1475	17.7773	0.88513	0.0:0.0:1.0:0.0	.	135;148	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	C	135;148;148	ENSP00000392972:W135C;ENSP00000250416:W148C;ENSP00000432283:W148C	ENSP00000250416:W148C	W	+	3	0	PARP2	19888605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.134000	0.89606	2.738000	0.93877	0.655000	0.94253	TGG	PARP2	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain		0.408	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	G			20818765	1	no_errors	ENST00000250416	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20818765	G	C	20818765	3	2	70	1	0	0	0	0	1	0	0	0	11485	1183	41	1	462	1	PARP2	14	20818765	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		20818765	86530775	49	10367										
TRIM69	140691	genome.wustl.edu	37	chr15	45047237	45047237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tctgtgcaatgattggttccGagacccactgatgctaagct	10	10	1	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr15:45047237G>A	ENST00000559390.1	+	3	1074	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.R49Q			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	49	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R49Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATTGGTTCCGAGACCCACTG	0.448																																					Pancreas(84;519 1450 1802 20427 34706)												1	Substitution - Missense(1)	cervix(1)											158	131	140					15																	45047237		2198	4298	6496	SO:0001583	missense	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.146G>A	15.37:g.45047237G>A	ENSP00000453177:p.Arg49Gln		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.R49Q	ENST00000559390.1	37	c.146	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752743	0.15778	.	.	ENSG00000185880	ENST00000329464	T	0.06528	3.29	5.58	-1.45	0.08828	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.470276	0.19081	N	0.123248	T	0.03871	0.0109	L	0.31294	0.92	0.09310	N	1	P	0.44309	0.832	B	0.33521	0.165	T	0.41787	-0.9489	10	0.30854	T	0.27	.	12.1317	0.53946	0.5088:0.0:0.4912:0.0	.	49	Q86WT6	TRI69_HUMAN	Q	49	ENSP00000332284:R49Q	ENSP00000332284:R49Q	R	+	2	0	TRIM69	42834529	0.004000	0.15560	0.178000	0.23040	0.019000	0.09904	0.064000	0.14437	-0.381000	0.07882	-2.049000	0.00408	CGA	TRIM69	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.448	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	G			45047237	1	no_errors	ENST00000329464	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45047237	G	A	45047237	3	1	70	1	0	0	0	0	1	0	0	0	16573	1058	37	1	152	1	TRIM69	15	45047237	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		45047237	57484155	50	10368										
KIAA1024	23251	genome.wustl.edu	37	chr15	79760682	79760682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tcgctgctgcggcatgcaccGtcatcctcgttattgtcgtg	11	13	1	0	rs201676825		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr15:79760682G>A	ENST00000305428.3	+	4	2782	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	903						integral component of membrane (GO:0016021)		p.V903I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCATGCACCGTCATCCTCGT	0.463																																																	1	Substitution - Missense(1)	cervix(1)						G	ILE/VAL	0,4392		0,0,2196	78	67	71		2707	5.7	0.8	15		71	2,8584	2.2+/-6.3	0,2,4291	no	missense	KIAA1024	NM_015206.2	29	0,2,6487	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	903/917	79760682	2,12976	2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2707G>A	15.37:g.79760682G>A	ENSP00000307461:p.Val903Ile		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.V903I	ENST00000305428.3	37	c.2707	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059442	0.55325	0.0	2.33E-4	ENSG00000169330	ENST00000305428	T	0.46063	0.88	5.67	5.67	0.87782	.	0.063934	0.64402	D	0.000007	T	0.35537	0.0935	L	0.34521	1.04	0.50171	D	0.999858	P	0.52170	0.951	B	0.40134	0.32	T	0.07731	-1.0757	9	.	.	.	.	19.7863	0.96440	0.0:0.0:1.0:0.0	.	903	Q9UPX6	K1024_HUMAN	I	903	ENSP00000307461:V903I	.	V	+	1	0	KIAA1024	77547737	1.000000	0.71417	0.838000	0.33150	0.012000	0.07955	5.106000	0.64597	2.665000	0.90641	0.655000	0.94253	GTC	KIAA1024	-	pfam_UPF0258		0.463	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	G	NM_015206		79760682	1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.995	A	A	79760682	G	A	79760682	3	1	70	1	0	0	0	0	1	0	0	0	8225	1145	40	2	2717	2	KIAA1024	15	79760682	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	34713445	79760682	22770710	51	10369										
BAIAP3	8938	genome.wustl.edu	37	chr16	1397928	1397928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctttgtgatcgtggagctggGcccaccgcatctctttccac	10	14	1	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:1397928G>A	ENST00000324385.5	+	32	3322	c.3164G>A	c.(3163-3165)gGc>gAc	p.G1055D	BAIAP3_ENST00000397489.1_Missense_Mutation_p.G1037D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G997D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G1020D|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G1037D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G992D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G984D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1055	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.G1055D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTGGAGCTGGGCCCACCGCAT	0.627																																																	1	Substitution - Missense(1)	cervix(1)											54	59	57					16																	1397928		2198	4298	6496	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3164G>A	16.37:g.1397928G>A	ENSP00000324510:p.Gly1055Asp		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G1055D	ENST00000324385.5	37	c.3164	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791901	0.70452	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.01	5.01	0.66863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059283	0.64402	D	0.000002	T	0.70727	0.3257	N	0.25094	0.71	0.48236	D	0.999611	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	P;D;D;D	0.73380	0.791;0.965;0.98;0.944	T	0.71852	-0.4467	10	0.41790	T	0.15	-42.3802	15.806	0.78513	0.0:0.0:1.0:0.0	.	984;997;1055;1037	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	D	1020;1037;1055;1037;984	ENSP00000407242:G1020D;ENSP00000380625:G1037D;ENSP00000324510:G1055D;ENSP00000380626:G1037D;ENSP00000409533:G984D	ENSP00000324510:G1055D	G	+	2	0	BAIAP3	1337929	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.655000	0.61476	2.327000	0.79052	0.561000	0.74099	GGC	BAIAP3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.627	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1397928	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1397928	G	A	1397928	3	1	70	1	0	0	0	0	1	0	0	0	1305	1203	42	4	3290	4	BAIAP3	16	1397928	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		1397928	88956825	52	10370										
CREBBP	1387	genome.wustl.edu	37	chr16	3786138	3786138	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	taacacattgggccagaaatCaccttcaaaatagggcagtt	8	9	2	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:3786138C>G	ENST00000262367.5	-	28	5436	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1505H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1543	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1543H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCCAGAAATCACCTTCAAAA	0.463			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM065107	CREBBP	M							250	204	220					16																	3786138		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4627G>C	16.37:g.3786138C>G	ENSP00000262367:p.Asp1543His		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1543H	ENST00000262367.5	37	c.4627	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	c	19.87	3.907032	0.72868	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.98249	-4.82;-4.82	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98863	1.0763	10	0.87932	D	0	-21.1644	18.4344	0.90640	0.0:1.0:0.0:0.0	.	1573;1543	Q4LE28;Q92793	.;CBP_HUMAN	H	1543;1573;1505;132	ENSP00000262367:D1543H;ENSP00000371502:D1505H	ENSP00000262367:D1543H	D	-	1	0	CREBBP	3726139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.662000	0.90505	0.555000	0.69702	GAT	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.463	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3786138	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3786138	C	G	3786138	3	3	70	1	0	0	0	0	1	0	0	0	3866	826	29	1	2717	1	CREBBP	16	3786138	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	2388210	3786138	86568615	53	10371										
VWA3A	146177	genome.wustl.edu	37	chr16	22126767	22126767	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ttcactctcaagggactggaTtccctggtggccatcatgag	11	11	3	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:22126767T>G	ENST00000389398.5	+	9	885	c.789T>G	c.(787-789)gaT>gaG	p.D263E	VWA3A_ENST00000389397.4_De_novo_Start_OutOfFrame	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	263						extracellular region (GO:0005576)		p.D263E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGGACTGGATTCCCTGGTGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											36	38	37					16																	22126767		1939	4133	6072	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.789T>G	16.37:g.22126767T>G	ENSP00000374049:p.Asp263Glu		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D263E	ENST00000389398.5	37	c.789	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	T	10.35	1.325795	0.24080	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.08008	3.14	5.51	3.22	0.36961	.	0.467400	0.21409	N	0.075001	T	0.07773	0.0195	N	0.25647	0.755	0.80722	D	1	B	0.32781	0.384	B	0.37731	0.257	T	0.30504	-0.9976	10	0.54805	T	0.06	.	9.168	0.37063	0.0:0.152:0.0:0.848	.	263	A6NCI4	VWA3A_HUMAN	E	163;263	ENSP00000374049:D263E	ENSP00000308827:D163E	D	+	3	2	VWA3A	22034268	1.000000	0.71417	0.996000	0.52242	0.219000	0.24729	1.652000	0.37313	0.361000	0.24292	0.486000	0.48141	GAT	VWA3A	-	NULL		0.478	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	T			22126767	1	no_errors	ENST00000389398	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22126767	T	G	22126767	3	3	70	1	0	0	0	0	1	0	0	0	17271	1490	52	5	823	5	VWA3A	16	22126767	Missense_Mutation	SNP	T	TCGA-EA-A1QT-01A-11D-A14W-08	18340629	22126767	68227986	54	10372										
CES7	221223	genome.wustl.edu	37	chr16	55886941	55886941	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	aaatactgaggcgggatgtgCtgtaaaaatatcgtagtcct	11	6	0	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:55886941C>T	ENST00000290567.9	-	10	1247		c.e10-1		CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000521992.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000541580.1_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCGGGATGTGCTGTAAAAATA	0.463																																																	2	Unknown(2)	cervix(2)											96	90	92					16																	55886941		2198	4300	6498	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1126-1G>A	16.37:g.55886941C>T			B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	-	e11-1	ENST00000290567.9	37	c.1213-1	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849056	0.32699	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.21	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9738	0.53078	0.0:0.9128:0.0:0.0872	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54444442	0.982000	0.34865	0.621000	0.29145	0.014000	0.08584	2.775000	0.47702	2.446000	0.82766	0.449000	0.29647	.	CES5A	-	-		0.463	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	C	NM_145024	Intron	55886941	-1	no_errors	ENST00000521992	ensembl	human	known	70_37	splice_site	SNP	0.631	T	T	55886941	C	T	55886941	5	4	70	1	0	0	0	0	0	0	1	0	3277	811	28	4	618	4	CES7	16	55886941	Splice_Site	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	33760174	55886941	34467812	55	10373										
AARS	16	genome.wustl.edu	37	chr16	70301613	70301613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	aattttcctgtccaggatgcGacgccctctgctgagagtct	10	12	2	1	rs147580372		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:70301613G>A	ENST00000261772.8	-	9	1314	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.R391C(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TCCAGGATGCGACGCCCTCTG	0.507											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											130	115	120					16																	70301613		2198	4300	6498	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1171C>T	16.37:g.70301613G>A	ENSP00000261772:p.Arg391Cys	1121		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc	p.R391C	ENST00000261772.8	37	c.1171	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453757	0.84209	.	.	ENSG00000090861	ENST00000261772	T	0.58940	0.3	5.81	4.84	0.62591	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.140827	0.64402	D	0.000002	T	0.78470	0.4288	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.932	T	0.82713	-0.0321	10	0.72032	D	0.01	-11.3137	13.1603	0.59540	0.0792:0.0:0.9208:0.0	.	399;391	E7ETK8;P49588	.;SYAC_HUMAN	C	391	ENSP00000261772:R391C	ENSP00000261772:R391C	R	-	1	0	AARS	68859114	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	9.827000	0.99397	2.736000	0.93811	0.655000	0.94253	CGC	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	G	NM_001605		70301613	-1	no_errors	ENST00000261772	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70301613	G	A	70301613	3	1	70	1	0	0	0	0	1	0	0	0	19	1058	37	1	1787	1	AARS	16	70301613	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	14414672	70301613	20053140	56	10374										
HPR	3250	genome.wustl.edu	37	chr16	72107831	72107831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ccctcctgctctggggacgaCagctttttgcactgtactca	9	14	2	0	rs369512628		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:72107831C>A	ENST00000540303.2	+	2	78	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	HPR_ENST00000356967.5_Missense_Mutation_p.Q16K|HPR_ENST00000228226.8_Missense_Mutation_p.Q53K|HPR_ENST00000561690.1_Missense_Mutation_p.Q16K	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	16						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.Q16K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGGGGACGACAGCTTTTTGC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											279	176	211					16																	72107831		2124	4240	6364	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.46C>A	16.37:g.72107831C>A	ENSP00000441828:p.Gln16Lys		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q53K	ENST00000540303.2	37	c.157	CCDS42193.1	16	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654694	0.14580	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.88277	-2.3;-2.3;-2.36	0.933	0.933	0.19471	.	.	.	.	.	D	0.85745	0.5768	M	0.78223	2.4	0.24575	N	0.993905	B	0.28208	0.203	B	0.24006	0.05	T	0.76165	-0.3059	9	0.42905	T	0.14	.	5.1851	0.15180	0.0:1.0:0.0:0.0	.	16	P00739	HPTR_HUMAN	K	16;16;53	ENSP00000349451:Q16K;ENSP00000441828:Q16K;ENSP00000228226:Q53K	ENSP00000228226:Q53K	Q	+	1	0	HP	70665332	1.000000	0.71417	0.888000	0.34837	0.174000	0.22865	1.519000	0.35888	0.797000	0.33971	0.436000	0.28706	CAG	HPR	-	pirsf_Haptoglobin		0.527	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPR	HGNC	protein_coding	OTTHUMT00000421696.1	C	NM_020995		72107831	1	no_errors	ENST00000228226	ensembl	human	known	70_37	missense	SNP	0.917	A	A	72107831	C	A	72107831	3	1	70	1	0	0	0	0	1	0	0	0	7357	479	17	4	52	4	HPR	16	72107831	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	1806218	72107831	18246922	57	10375										
ANKFY1	51479	genome.wustl.edu	37	chr17	4098307	4098307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ggtgcgtctgtgtggctgccGcgctggatgagtctggctgc	18	10	2	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr17:4098307G>A	ENST00000341657.4	-	10	1373	c.1338C>T	c.(1336-1338)cgC>cgT	p.R446R	ANKFY1_ENST00000574367.1_Silent_p.R446R|ANKFY1_ENST00000570535.1_Silent_p.R488R|ANKFY1_ENST00000433651.1_Silent_p.R446R|Y_RNA_ENST00000384660.1_RNA	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	446					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.R446R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGTGGCTGCCGCGCTGGATGA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											41	46	45					17																	4098307		2107	4242	6349	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1338C>T	17.37:g.4098307G>A			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.R488	ENST00000341657.4	37	c.1464		17																																																																																			ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.572	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	G	NM_016376		4098307	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	silent	SNP	0.066	A	A	4098307	G	A	4098307	2	1	70	1	0	0	0	0	0	0	0	1	626	1074	38	2		2	ANKFY1	17	4098307	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		4098307	77096903	58	10376										
PTPRM	5797	genome.wustl.edu	37	chr18	8253378	8253378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gcacatcacacagatgaagtGtgcggagggctacggcttca	13	10	2	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr18:8253378G>A	ENST00000332175.8	+	17	3718	c.2681G>A	c.(2680-2682)tGt>tAt	p.C894Y	PTPRM_ENST00000400053.4_Missense_Mutation_p.C832Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.C681Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.C908Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.C907Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	894					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C894Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGATGAAGTGTGCGGAGGGC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											47	34	38					18																	8253378		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2681G>A	18.37:g.8253378G>A	ENSP00000331418:p.Cys894Tyr		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.C908Y	ENST00000332175.8	37	c.2723	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560446	0.65538	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.64997	1.995	0.80722	D	1	D;D;D	0.63880	0.967;0.993;0.993	P;P;P	0.51742	0.497;0.678;0.678	T	0.42582	-0.9443	10	0.72032	D	0.01	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	681;907;894	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	894;908;832;681	ENSP00000331418:C894Y;ENSP00000382933:C908Y;ENSP00000382927:C832Y;ENSP00000387608:C681Y	ENSP00000331418:C894Y	C	+	2	0	PTPRM	8243378	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	6.541000	0.73865	2.802000	0.96397	0.561000	0.74099	TGT	PTPRM	-	NULL		0.587	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8253378	1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8253378	G	A	8253378	3	1	70	1	0	0	0	0	1	0	0	0	12836	1377	48	4	2794	4	PTPRM	18	8253378	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		8253378	69823870	59	10377										
PIK3C3	5289	genome.wustl.edu	37	chr18	39593447	39593447	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	caattggtccaggctctcaaAtatgaaaattttgatgatat	7	6	1	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr18:39593447A>C	ENST00000262039.4	+	11	1298	c.1212A>C	c.(1210-1212)aaA>aaC	p.K404N	PIK3C3_ENST00000398870.3_Missense_Mutation_p.K341N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	404	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.K404N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGGCTCTCAAATATGAAAATT	0.308										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												1	Substitution - Missense(1)	cervix(1)											77	84	81					18																	39593447		2203	4298	6501	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1212A>C	18.37:g.39593447A>C	ENSP00000262039:p.Lys404Asn		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.K404N	ENST00000262039.4	37	c.1212	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495927	0.64186	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.71698	-0.59;-0.59	5.34	2.6	0.31112	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	D	0.86047	0.1523	9	.	.	.	.	8.1432	0.31095	0.729:0.0:0.271:0.0	.	341;404	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	N	404;341	ENSP00000262039:K404N;ENSP00000381845:K341N	.	K	+	3	2	PIK3C3	37847445	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.608000	0.36847	0.929000	0.37192	0.528000	0.53228	AAA	PIK3C3	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34		0.308	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	A	NM_002647		39593447	1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39593447	A	C	39593447	3	2	70	1	0	0	0	0	1	0	0	0	11936	98	4	5	1254	5	PIK3C3	18	39593447	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	31340069	39593447	38483801	60	10378										
TCEB3C	728929	genome.wustl.edu	37	chr18	44549194	44549194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	cggctgatcgggcgtccaccCttccagaacgggttcaagaa	12	13	1	3	rs75431623	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr18:44549194C>T	ENST00000451265.1	-	1	1340	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	369	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						GGCGTCCACCCTTCCAGAACG	0.597																																																	0													260	221	234					18																	44549194		1740	3470	5210	SO:0001583	missense	728929					18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1105G>A	18.37:g.44549194C>T	ENSP00000409932:p.Gly369Arg		Q3MI93	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G369R	ENST00000451265.1	37	c.1105	CCDS42433.1	18	.	.	.	.	.	.	.	.	.	.	C	1.402	-0.577902	0.03854	.	.	ENSG00000234298	ENST00000451265	T	0.26810	1.71	1.5	-2.94	0.05581	.	2.886880	0.02063	N	0.050960	T	0.08802	0.0218	N	0.03071	-0.42	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.18116	-1.0347	10	0.07030	T	0.85	-0.4334	3.6432	0.08174	0.0:0.2333:0.2072:0.5595	.	369	Q3SY89	EA3L1_HUMAN	R	369	ENSP00000409932:G369R	ENSP00000409932:G369R	G	-	1	0	TCEB3CL	42803192	0.656000	0.27385	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	-0.896000	0.03915	0.556000	0.70494	GGG	TCEB3CL	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.597	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL	HGNC	protein_coding	OTTHUMT00000451071.1	C	XM_001132059		44549194	-1	no_errors	ENST00000451265	ensembl	human	known	70_37	missense	SNP	0.001	T	T	44549194	C	T	44549194	3	4	70	1	0	0	0	0	1	0	0	0	15713	681	24	4	539	4	TCEB3C	18	44549194	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	4955747	44549194	33528054	61	10379										
ZNF358	140467	genome.wustl.edu	37	chr19	7584342	7584342	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	agcccgtctcggaggatctgGaccccgacgccgaagctccg	13	16	2	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:7584342G>T	ENST00000597229.1	+	2	384	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	ZNF358_ENST00000394341.2_Missense_Mutation_p.D72Y|CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	72					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D72Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGAGGATCTGGACCCCGACGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											57	62	60					19																	7584342		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.214G>T	19.37:g.7584342G>T	ENSP00000472305:p.Asp72Tyr		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D72Y	ENST00000597229.1	37	c.214	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983567	0.53827	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.08720	3.06	4.12	1.99	0.26369	.	.	.	.	.	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	1	D	0.56035	0.974	P	0.49637	0.617	T	0.30563	-0.9974	9	0.56958	D	0.05	-4.057	5.7435	0.18108	0.2408:0.0:0.7592:0.0	.	72	Q9NW07	ZN358_HUMAN	Y	72	ENSP00000377873:D72Y	ENSP00000354703:D72Y	D	+	1	0	ZNF358	7490342	0.011000	0.17503	0.749000	0.31150	0.850000	0.48378	0.414000	0.21164	1.058000	0.40530	0.456000	0.33151	GAC	ZNF358	-	NULL		0.597	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	G			7584342	1	no_errors	ENST00000394341	ensembl	human	known	70_37	missense	SNP	0.088	T	T	7584342	G	T	7584342	3	4	70	1	0	0	0	0	1	0	0	0	17897	1174	41	3	216	3	ZNF358	19	7584342	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		7584342	51544641	62	10380										
BRD4	23476	genome.wustl.edu	37	chr19	15355409	15355409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tgctgatggtggtgatgatgGtgctgcagacagagagacag	17	5	0	6			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:15355409G>C	ENST00000263377.2	-	13	2435	c.2214C>G	c.(2212-2214)caC>caG	p.H738Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	738	Poly-His.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.H738Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTGATGATGGTGCTGcagac	0.667			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	1	Substitution - Missense(1)	cervix(1)											66	63	64					19																	15355409		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2214C>G	19.37:g.15355409G>C	ENSP00000263377:p.His738Gln		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.H738Q	ENST00000263377.2	37	c.2214	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834342	0.16820	.	.	ENSG00000141867	ENST00000263377	T	0.44482	0.92	3.55	1.36	0.22044	.	0.000000	0.49305	D	0.000142	T	0.44393	0.1291	L	0.43152	1.355	0.80722	D	1	P	0.44006	0.824	P	0.60886	0.88	T	0.33854	-0.9852	10	0.16896	T	0.51	-19.8098	5.255	0.15542	0.4042:0.0:0.5958:0.0	.	738	O60885	BRD4_HUMAN	Q	738	ENSP00000263377:H738Q	ENSP00000263377:H738Q	H	-	3	2	BRD4	15216409	0.998000	0.40836	0.997000	0.53966	0.898000	0.52572	0.191000	0.17076	0.197000	0.20387	0.556000	0.70494	CAC	BRD4	-	NULL		0.667	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	G	NM_058243		15355409	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	0.999	C	C	15355409	G	C	15355409	3	2	70	1	0	0	0	0	1	0	0	0	1507	1252	44	4	1906	4	BRD4	19	15355409	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	7771067	15355409	43773574	63	10381										
CPAMD8	27151	genome.wustl.edu	37	chr19	17108023	17108023	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ggggtggagtcatcgaacgcGacctgctggctcccgtccac	14	14	1	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:17108023G>A	ENST00000443236.1	-	11	1165	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	CPAMD8_ENST00000388925.4_Silent_p.V331V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	331						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V378V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATCGAACGCGACCTGCTGGC	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											32	33	33					19																	17108023		1931	4087	6018	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1134C>T	19.37:g.17108023G>A			Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.V378	ENST00000443236.1	37	c.1134	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	g	0.240	-1.014083	0.02095	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.0	-5.0	0.03001	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53556	-0.8422	4	.	.	.	.	8.302	0.32019	0.2147:0.3008:0.4845:0.0	.	.	.	.	L	389	.	.	S	-	2	0	CPAMD8	16969023	0.969000	0.33509	0.429000	0.26710	0.007000	0.05969	-0.047000	0.11963	-0.389000	0.07786	-2.587000	0.00166	TCG	CPAMD8	-	NULL		0.647	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	G	NM_015692		17108023	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	silent	SNP	0.999	A	A	17108023	G	A	17108023	2	1	70	1	0	0	0	0	0	0	0	1	3800	1045	37	1		1	CPAMD8	19	17108023	Silent	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08	1752614	17108023	42020960	64	10382										
ZNF91	7644	genome.wustl.edu	37	chr19	23542271	23542271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tcctgacctcgtgatccgccCgcctcggcctcccaaagtag	9	18	0	2	rs376791864	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:23542271C>T	ENST00000300619.7	-	4	3715	c.3510G>A	c.(3508-3510)gcG>gcA	p.A1170A	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.A1138A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1170					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1170A(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				gtgatccgcccgcctcggcct	0.468													C|||	3	0.000599042	0	0	5008	,	,		16383	0		0.001	False		,,,				2504	0.002																1	Substitution - coding silent(1)	cervix(1)											23	26	25					19																	23542271		2014	4169	6183	SO:0001819	synonymous_variant	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3510G>A	19.37:g.23542271C>T			A8K5E1|B7Z6G6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A1170	ENST00000300619.7	37	c.3510	CCDS42541.1	19																																																																																			ZNF91	-	NULL		0.468	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	C	NM_003430		23542271	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	silent	SNP	0.894	T	T	23542271	C	T	23542271	2	4	70	1	0	0	0	0	0	0	0	1	18230	639	23	2		2	ZNF91	19	23542271	Silent	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	6434248	23542271	35586712	65	10383										
MEGF8	1954	genome.wustl.edu	37	chr19	42872634	42872634	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	gcccttcctacctgcccctgCgatgtatggccggaggctgt	12	15	0	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:42872634C>G	ENST00000251268.6	+	36	6301	c.6301C>G	c.(6301-6303)Cga>Gga	p.R2101G	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Missense_Mutation_p.R2034G	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2101	PSI 6.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R2034G(1)|p.R2101G(1)|p.R1642G(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGCCCCTGCGATGTATGGC	0.622																																																	3	Substitution - Missense(3)	cervix(3)											10	10	10					19																	42872634		2109	4167	6276	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6301C>G	19.37:g.42872634C>G	ENSP00000251268:p.Arg2101Gly		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R2101G	ENST00000251268.6	37	c.6301		19	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902828	0.52227	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.01;2.01	4.82	2.58	0.30949	.	0.000000	0.64402	D	0.000012	T	0.36413	0.0966	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.823;0.997	T	0.02214	-1.1194	10	0.26408	T	0.33	-6.5436	12.7338	0.57212	0.2916:0.7084:0.0:0.0	.	2101;2034	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	G	2034;2101	ENSP00000334219:R2034G;ENSP00000251268:R2101G	ENSP00000251268:R2101G	R	+	1	2	MEGF8	47564474	1.000000	0.71417	0.941000	0.38009	0.601000	0.36947	5.074000	0.64401	0.516000	0.28340	0.561000	0.74099	CGA	MEGF8	-	smart_Plexin-like		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42872634	1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42872634	C	G	42872634	3	3	70	1	0	0	0	0	1	0	0	0	9486	760	27	2	6238	2	MEGF8	19	42872634	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	19330363	42872634	16256349	66	10384										
TEAD2	8463	genome.wustl.edu	37	chr19	49850490	49850490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	catggggggggccacgatcaTatagctctcggaggccaccc	14	13	2	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:49850490T>C	ENST00000311227.2	-	9	956	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	TEAD2_ENST00000593945.1_Missense_Mutation_p.Y293C|TEAD2_ENST00000598810.1_Missense_Mutation_p.Y293C|TEAD2_ENST00000377214.4_Missense_Mutation_p.Y292C|TEAD2_ENST00000539846.1_Missense_Mutation_p.Y161C|TEAD2_ENST00000601519.1_Missense_Mutation_p.Y292C|TEAD2_ENST00000598397.1_5'UTR	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	289	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y289C(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GCCACGATCATATAGCTCTCG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											138	151	147					19																	49850490		2203	4300	6503	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.866A>G	19.37:g.49850490T>C	ENSP00000310701:p.Tyr289Cys		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.Y289C	ENST00000311227.2	37	c.866	CCDS12761.1	19	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662814	0.29515	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.8	0.32819	.	0.000000	0.64402	D	0.000020	T	0.54481	0.1861	M	0.76938	2.355	0.47819	D	0.99952	B;D;B	0.89917	0.006;1.0;0.003	B;D;B	0.79108	0.017;0.992;0.017	T	0.55016	-0.8206	10	0.87932	D	0	-9.7257	6.1657	0.20388	0.1436:0.0856:0.0:0.7709	.	161;289;292	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	289;292;161	ENSP00000310701:Y289C;ENSP00000366419:Y292C;ENSP00000437928:Y161C	ENSP00000310701:Y289C	Y	-	2	0	TEAD2	54542302	0.934000	0.31675	0.989000	0.46669	0.037000	0.13140	0.836000	0.27545	0.881000	0.35993	-0.290000	0.09829	TAT	TEAD2	-	pfam_TEA/ATTS,pirsf_TEF		0.572	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	HGNC	protein_coding	OTTHUMT00000465465.1	T	NM_003598		49850490	-1	no_errors	ENST00000311227	ensembl	human	known	70_37	missense	SNP	0.998	C	C	49850490	T	C	49850490	3	2	70	1	0	0	0	0	1	0	0	0	15769	1406	49	5	493	5	TEAD2	19	49850490	Missense_Mutation	SNP	T	TCGA-EA-A1QT-01A-11D-A14W-08	6977856	49850490	9278493	67	10385										
PAX1	5075	genome.wustl.edu	37	chr20	21687618	21687618	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	accccggggtcccgggcacgGcgggccacgtcagcatcccg	15	18	1	0	rs376309924		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr20:21687618G>C	ENST00000398485.2	+	2	883	c.829G>C	c.(829-831)Gcg>Ccg	p.A277P	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A253P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	277					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A277P(1)|p.A183T(1)|p.A277T(1)|p.A183P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCGGGCACGGCGGGCCACGT	0.667																																																	4	Substitution - Missense(4)	cervix(2)|endometrium(2)											19	22	21					20																	21687618		2194	4286	6480	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.829G>C	20.37:g.21687618G>C	ENSP00000381499:p.Ala277Pro		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.A277P	ENST00000398485.2	37	c.829	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123613	0.20959	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98329	-4.37;-4.87	5.11	5.11	0.69529	.	0.428000	0.27406	N	0.019511	D	0.93294	0.7863	N	0.11255	0.115	0.39901	D	0.973905	B;B;B	0.28971	0.003;0.002;0.229	B;B;B	0.27608	0.009;0.003;0.081	D	0.92011	0.5618	10	0.19147	T	0.46	.	11.6592	0.51337	0.0823:0.0:0.9177:0.0	.	253;183;277	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	P	277;253	ENSP00000381499:A277P;ENSP00000410355:A253P	ENSP00000381499:A277P	A	+	1	0	PAX1	21635618	0.997000	0.39634	0.462000	0.27118	0.990000	0.78478	4.107000	0.57811	2.381000	0.81170	0.561000	0.74099	GCG	PAX1	-	NULL		0.667	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	G			21687618	1	no_errors	ENST00000398485	ensembl	human	known	70_37	missense	SNP	0.907	C	C	21687618	G	C	21687618	3	2	70	1	0	0	0	0	1	0	0	0	11502	1203	42	4	835	4	PAX1	20	21687618	Missense_Mutation	SNP	G	TCGA-EA-A1QT-01A-11D-A14W-08		21687618	41337902	68	10386										
CLTCL1	8218	genome.wustl.edu	37	chr22	19221125	19221125	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ctctggaatttctggaccgtCtctctggtacgcaggattcc	10	12	4	0			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr22:19221125C>A	ENST00000263200.10	-	8	1260	c.1188G>T	c.(1186-1188)gaG>gaT	p.E396D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E396D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E396D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	396	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.E396D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTGGACCGTCTCTCTGGTAC	0.458			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	cervix(1)											53	55	54					22																	19221125		1845	4098	5943	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1188G>T	22.37:g.19221125C>A	ENSP00000445677:p.Glu396Asp		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E396D	ENST00000263200.10	37	c.1188	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.883613	0.00532	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.48522	0.81;0.81;0.81	3.61	2.57	0.30868	Armadillo-type fold (1);	0.135887	0.48767	N	0.000175	T	0.14830	0.0358	N	0.02842	-0.48	0.32084	N	0.5928	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.14868	-1.0457	10	0.06494	T	0.89	-13.3303	1.3323	0.02137	0.1518:0.2294:0.4106:0.2081	.	396;396	P53675-2;P53675	.;CLH2_HUMAN	D	396	ENSP00000439662:E396D;ENSP00000445677:E396D;ENSP00000441158:E396D	ENSP00000445677:E396D	E	-	3	2	CLTCL1	17601125	0.995000	0.38212	0.829000	0.32907	0.019000	0.09904	0.221000	0.17680	0.842000	0.35045	-0.340000	0.08031	GAG	CLTCL1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.458	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19221125	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19221125	C	A	19221125	3	1	70	1	0	0	0	0	1	0	0	0	3572	912	32	3	3834	3	CLTCL1	22	19221125	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08		19221125	32083441	69	10387										
PRPS2	5634	genome.wustl.edu	37	chrX	12828219	12828219	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ttcgggaaaacattgccgagTggaagaactgtatcattgtt	11	6	1	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:12828219T>A	ENST00000380668.5	+	4	612	c.484T>A	c.(484-486)Tgg>Agg	p.W162R	PRPS2_ENST00000398491.2_Missense_Mutation_p.W165R|PRPS2_ENST00000489404.1_Missense_Mutation_p.W162R	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	162					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.W162R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CATTGCCGAGTGGAAGAACTG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											118	100	106					X																	12828219		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.484T>A	X.37:g.12828219T>A	ENSP00000370043:p.Trp162Arg		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.W165R	ENST00000380668.5	37	c.493	CCDS14150.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.79|13.79	2.341839|2.341839	0.41498|0.41498	.|.	.|.	ENSG00000101911|ENSG00000101911	ENST00000380663|ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D|D;D;D;D	0.94232|0.94457	-3.38|-2.77;-2.77;-3.43;-2.18	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Phosphoribosyltransferase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96349|0.96349	0.8809|0.8809	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.79108	.|0.992;0.987	D|D	0.95741|0.95741	0.8783|0.8783	7|10	0.87932|0.38643	D|T	0|0.18	-15.8402|-15.8402	14.0079|14.0079	0.64475|0.64475	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|162;165	.|P11908;P11908-2	.|PRPS2_HUMAN;.	E|R	141|162;165;162;75;52	ENSP00000370038:V141E|ENSP00000370043:W162R;ENSP00000381504:W165R;ENSP00000419380:W162R;ENSP00000418911:W75R	ENSP00000370038:V141E|ENSP00000370043:W162R	V|W	+|+	2|1	0|0	PRPS2|PRPS2	12738140|12738140	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.689000|0.689000	0.40095|0.40095	7.538000|7.538000	0.82048|0.82048	1.754000|1.754000	0.51921|0.51921	0.483000|0.483000	0.47432|0.47432	GTG|TGG	PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase		0.473	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	T	NM_002765		12828219	1	no_errors	ENST00000398491	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12828219	T	A	12828219	3	1	70	1	0	0	0	0	1	0	0	0	12607	1696	59	5	507	5	PRPS2	23	12828219	Missense_Mutation	SNP	T	TCGA-EA-A1QT-01A-11D-A14W-08		12828219	142442341	70	10388										
MAP3K15	389840	genome.wustl.edu	37	chrX	19378902	19378902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ggtttctgaggcctcctgagCccttctgtactgggagaccg	13	12	2	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:19378902C>T	ENST00000338883.4	-	29	3906	c.3907G>A	c.(3907-3909)Gct>Act	p.A1303T	PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A1135T|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A738T	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1303							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A1350T(1)|p.A778S(1)|p.A778T(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCTCCTGAGCCCTTCTGTAC	0.512																																																	3	Substitution - Missense(3)	cervix(2)|lung(1)											164	113	130					X																	19378902		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3907G>A	X.37:g.19378902C>T	ENSP00000345629:p.Ala1303Thr		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1303T	ENST00000338883.4	37	c.3907		X	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013993	0.54468	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.87650	-2.28;-2.28;-2.28	5.62	-0.889	0.10580	Sterile alpha motif/pointed domain (1);	3.371120	0.01992	U	0.045612	T	0.72700	0.3493	N	0.13043	0.29	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.10450	0.005;0.002	T	0.58504	-0.7625	10	0.14252	T	0.57	.	1.1649	0.01813	0.2066:0.3211:0.1067:0.3656	.	778;1303	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	T	1303;738;1135	ENSP00000345629:A1303T;ENSP00000352093:A738T;ENSP00000428356:A1135T	ENSP00000345629:A1303T	A	-	1	0	MAP3K15	19288823	0.000000	0.05858	0.000000	0.03702	0.966000	0.64601	-0.040000	0.12104	-0.227000	0.09884	0.594000	0.82650	GCT	MAP3K15	-	superfamily_SAM/pointed		0.512	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		C	NM_001001671		19378902	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.000	T	T	19378902	C	T	19378902	3	4	70	1	0	0	0	0	1	0	0	0	9272	739	26	4	38	4	MAP3K15	23	19378902	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	6550683	19378902	135891658	71	10389										
CXorf22	170063	genome.wustl.edu	37	chrX	35974251	35974251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ttcctgtgacgtaccactttAaaaaaactgcaaattttgaa	5	8	0	2			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:35974251A>G	ENST00000297866.5	+	8	1414	c.1348A>G	c.(1348-1350)Aaa>Gaa	p.K450E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	450								p.K450E(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GTACCACTTTAAAAAAACTGC	0.358																																																	2	Substitution - Missense(2)	cervix(2)											55	52	53					X																	35974251		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1348A>G	X.37:g.35974251A>G	ENSP00000297866:p.Lys450Glu		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.K450E	ENST00000297866.5	37	c.1348	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.141361	0.01728	.	.	ENSG00000165164	ENST00000297866	T	0.54279	0.58	5.2	-10.4	0.00318	.	0.906122	0.09570	N	0.784296	T	0.24005	0.0581	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.02654	T	1	-25.5355	8.2496	0.31708	0.2985:0.5151:0.1263:0.06	.	450	Q6ZTR5	CX022_HUMAN	E	450	ENSP00000297866:K450E	ENSP00000297866:K450E	K	+	1	0	CXorf22	35884172	0.080000	0.21391	0.000000	0.03702	0.000000	0.00434	0.166000	0.16583	-4.360000	0.00054	-2.349000	0.00243	AAA	CXorf22	-	NULL		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	A	NM_152632		35974251	1	no_errors	ENST00000297866	ensembl	human	known	70_37	missense	SNP	0.000	G	G	35974251	A	G	35974251	3	3	70	1	0	0	0	0	1	0	0	0	4107	363	13	5	1378	5	CXorf22	23	35974251	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	16595349	35974251	119296309	72	10390										
P2RY4	5030	genome.wustl.edu	37	chrX	69479287	69479287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ttgcatcccagggtcggaggCggaagatgaagagccatagg	16	8	0	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:69479287C>T	ENST00000374519.2	-	1	367	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	63					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R63H(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGGTCGGAGGCGGAAGATGAA	0.537																																																	1	Substitution - Missense(1)	cervix(1)											90	64	73					X																	69479287		2203	4300	6503	SO:0001583	missense	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.188G>A	X.37:g.69479287C>T	ENSP00000363643:p.Arg63His		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor	p.R63H	ENST00000374519.2	37	c.188	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	C	6.942	0.543610	0.13250	.	.	ENSG00000186912	ENST00000374519	T	0.71934	-0.61	4.14	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.141046	0.44285	N	0.000476	T	0.63177	0.2489	L	0.55017	1.72	0.30569	N	0.763715	B	0.27229	0.172	B	0.33196	0.159	T	0.60125	-0.7324	10	0.49607	T	0.09	.	7.3387	0.26625	0.0:0.5955:0.0:0.4045	.	63	P51582	P2RY4_HUMAN	H	63	ENSP00000363643:R63H	ENSP00000363643:R63H	R	-	2	0	P2RY4	69396012	1.000000	0.71417	0.801000	0.32222	0.562000	0.35680	1.500000	0.35682	-0.008000	0.14320	0.517000	0.50305	CGC	P2RY4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2U_purnocptor		0.537	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	C	NM_002565		69479287	-1	no_errors	ENST00000374519	ensembl	human	known	70_37	missense	SNP	0.996	T	T	69479287	C	T	69479287	3	4	70	1	0	0	0	0	1	0	0	0	11377	768	27	2	913	2	P2RY4	23	69479287	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	33505036	69479287	85791273	73	10391										
PCDH11X	27328	genome.wustl.edu	37	chrX	91873845	91873845	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	acttcatcccagtgatgattCaattaaagtcattcctttga	5	9	3	3			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:91873845C>T	ENST00000373094.1	+	7	4795	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1309L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1280L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1299L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1280L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1307L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1317					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1317L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTGATGATTCAATTAAAGTC	0.463																																					NSCLC(38;925 1092 2571 38200 45895)												1	Substitution - Missense(1)	cervix(1)											168	155	159					X																	91873845		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3950C>T	X.37:g.91873845C>T	ENSP00000362186:p.Ser1317Leu		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1317L	ENST00000373094.1	37	c.3950	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553346	0.65425	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.60299	0.27;0.27;0.2;0.23;0.25;0.2	4.58	4.58	0.56647	.	.	.	.	.	T	0.60805	0.2297	N	0.24115	0.695	0.33438	D	0.581951	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.983	P;P;P;P;P	0.59487	0.814;0.814;0.858;0.858;0.725	T	0.73116	-0.4084	9	0.87932	D	0	.	15.5329	0.75977	0.0:1.0:0.0:0.0	.	1280;1299;1309;1307;1317	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1317;1307;1280;1299;1309;1317;1280	ENSP00000362186:S1317L;ENSP00000362189:S1307L;ENSP00000362180:S1280L;ENSP00000355105:S1299L;ENSP00000384758:S1309L;ENSP00000298274:S1280L	ENSP00000298274:S1280L	S	+	2	0	PCDH11X	91760501	0.784000	0.28713	1.000000	0.80357	0.756000	0.42949	2.641000	0.46587	1.850000	0.53721	0.466000	0.42574	TCA	PCDH11X	-	NULL		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91873845	1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	0.998	T	T	91873845	C	T	91873845	3	4	70	1	0	0	0	0	1	0	0	0	11532	838	29	1	4098	1	PCDH11X	23	91873845	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	22394558	91873845	63396715	74	10392										
FAM199X	139231	genome.wustl.edu	37	chrX	103430825	103430825	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	ttccaagttcaccttgcctgCttcctaaaaagaaaaacaag	5	11	1	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:103430825C>G	ENST00000493442.1	+	3	662	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	166								p.L166V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCTTGCCTGCTTCCTAAAAA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											124	114	117					X																	103430825		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.496C>G	X.37:g.103430825C>G	ENSP00000417581:p.Leu166Val		Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.L166V	ENST00000493442.1	37	c.496	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	C	8.136	0.784210	0.16189	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	4.18	0.49190	.	0.293026	0.38959	N	0.001507	T	0.28896	0.0717	N	0.12182	0.205	0.29569	N	0.850029	B	0.02656	0.0	B	0.01281	0.0	T	0.11717	-1.0576	8	.	.	.	-4.3971	13.7177	0.62708	0.0:0.8485:0.1515:0.0	.	166	Q6PEV8	F199X_HUMAN	V	166	.	.	L	+	1	0	FAM199X	103317481	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.189000	0.42621	0.993000	0.38866	0.600000	0.82982	CTT	FAM199X	-	NULL		0.398	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	C	NM_207318		103430825	1	no_errors	ENST00000493442	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103430825	C	G	103430825	3	3	70	1	0	0	0	0	1	0	0	0	5545	797	28	4	506	4	FAM199X	23	103430825	Missense_Mutation	SNP	C	TCGA-EA-A1QT-01A-11D-A14W-08	11556980	103430825	51839735	75	10393										
ODZ1	10178	genome.wustl.edu	37	chrX	123525989	123525989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	tggtcatattccattttttcAttccacgttcctctttgaat	4	10	3	1			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:123525989A>T	ENST00000371130.3	-	27	5643	c.5580T>A	c.(5578-5580)aaT>aaA	p.N1860K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.N1867K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1860					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N1862K(1)									CCATTTTTTCATTCCACGTTC	0.393																																																	1	Substitution - Missense(1)	cervix(1)											95	76	82					X																	123525989		2203	4299	6502	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5580T>A	X.37:g.123525989A>T	ENSP00000360171:p.Asn1860Lys		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.N1867K	ENST00000371130.3	37	c.5601	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214487	0.39102	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84589	-1.87;-1.83	5.28	4.04	0.47022	.	0.103365	0.64402	D	0.000003	T	0.72779	0.3503	L	0.29908	0.895	0.34339	D	0.688524	B;B;B	0.24368	0.039;0.039;0.102	B;B;B	0.18263	0.01;0.01;0.021	T	0.71563	-0.4555	10	0.25106	T	0.35	.	6.6965	0.23201	0.6913:0.1558:0.0:0.1529	.	1866;1867;1860	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1860;1867	ENSP00000360171:N1860K;ENSP00000403954:N1867K	ENSP00000360171:N1860K	N	-	3	2	ODZ1	123353670	0.975000	0.34042	1.000000	0.80357	0.983000	0.72400	0.320000	0.19540	1.765000	0.52091	0.486000	0.48141	AAT	TENM1	-	tigrfam_YD		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	A	NM_014253		123525989	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	0.999	T	T	123525989	A	T	123525989	3	4	70	1	0	0	0	0	1	0	0	0	10858	214	8	5	2617	5	ODZ1	23	123525989	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	20095164	123525989	31744571	76	10394										
GPR112	139378	genome.wustl.edu	37	chrX	135428590	135428590	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.12987012987013	10	0.144152941559974	1.53021978021978	1.98928571428571	1.3925	0.19838056680162	0.43242505572488	0	caacaactgaggtgagagaaAgttggcttttgacaaaattg	11	5	0	4			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:135428590A>T	ENST00000394143.1	+	6	3016	c.2725A>T	c.(2725-2727)Agt>Tgt	p.S909C	GPR112_ENST00000287534.4_Missense_Mutation_p.S846C|GPR112_ENST00000370652.1_Missense_Mutation_p.S909C|GPR112_ENST00000394141.1_Missense_Mutation_p.S704C|GPR112_ENST00000412101.1_Missense_Mutation_p.S704C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	909					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S909C(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTGAGAGAAAGTTGGCTTTT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											101	98	99					X																	135428590		2203	4299	6502	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2725A>T	X.37:g.135428590A>T	ENSP00000377699:p.Ser909Cys		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S909C	ENST00000394143.1	37	c.2725	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834276	0.32421	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.53	2.53	0.30540	.	.	.	.	.	T	0.48059	0.1479	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.957;0.98;0.984	T	0.20940	-1.0260	9	0.87932	D	0	.	6.2409	0.20789	1.0:0.0:0.0:0.0	.	846;704;909	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	909;909;704;846;704	ENSP00000377699:S909C;ENSP00000359686:S909C;ENSP00000416526:S704C;ENSP00000287534:S846C;ENSP00000377697:S704C	ENSP00000287534:S846C	S	+	1	0	GPR112	135256256	0.989000	0.36119	0.217000	0.23759	0.605000	0.37080	2.359000	0.44142	1.266000	0.44231	0.235000	0.17854	AGT	GPR112	-	NULL		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135428590	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.216	T	T	135428590	A	T	135428590	3	4	70	1	0	0	0	0	1	0	0	0	6648	72	3	5	2735	5	GPR112	23	135428590	Missense_Mutation	SNP	A	TCGA-EA-A1QT-01A-11D-A14W-08	11902601	135428590	19841970	77	10395										
CLSTN1	22883	genome.wustl.edu	37	chr1	9796007	9796007	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cctccttgcaggtatacagaCagtcgatcaccttcttatcc	6	14	2	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:9796007C>G	ENST00000377298.4	-	12	2462	c.1670G>C	c.(1669-1671)tGt>tCt	p.C557S	CLSTN1_ENST00000377288.3_Missense_Mutation_p.C538S|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Missense_Mutation_p.C547S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	557					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGTATACAGACAGTCGATCAC	0.582																																																	0													93	89	91					1																	9796007		2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1670G>C	1.37:g.9796007C>G	ENSP00000366513:p.Cys557Ser		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.C557S	ENST00000377298.4	37	c.1670	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208427	0.95069	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.84948	2.725	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.81914	0.989;0.995;0.989	T	0.71119	-0.4685	10	0.87932	D	0	-16.9041	19.9983	0.97395	0.0:1.0:0.0:0.0	.	538;547;557	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	557;547;358;538;538	ENSP00000366513:C557S;ENSP00000354997:C547S;ENSP00000401934:C358S;ENSP00000366502:C538S	ENSP00000354997:C547S	C	-	2	0	CLSTN1	9718594	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	TGT	CLSTN1	-	superfamily_ConA-like_lec_gl_sf		0.582	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	C			9796007	-1	no_errors	ENST00000377298	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9796007	C	G	9796007	3	3	71	1	0	0	0	0	1	0	0	0	3566	478	17	4	1307	4	CLSTN1	1	9796007	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		9796007	239454614	1	10396										
PRAMEF12	390999	genome.wustl.edu	37	chr1	12837347	12837347	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctgaggccaccctgcagaccCtggacttagaggactgtggg	14	12	0	3			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:12837347C>G	ENST00000357726.4	+	3	1084	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	353					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGACCCTGGACTTAGA	0.587																																																	0													91	92	91					1																	12837347		2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1057C>G	1.37:g.12837347C>G	ENSP00000350358:p.Leu353Val			Missense_Mutation	SNP	NULL	p.L353V	ENST00000357726.4	37	c.1057	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.558371	0.45590	.	.	ENSG00000116726	ENST00000357726	T	0.03889	3.77	2.82	2.82	0.32997	.	0.178441	0.36815	N	0.002395	T	0.25044	0.0608	M	0.91300	3.195	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03514	-1.1029	10	0.66056	D	0.02	.	11.8162	0.52211	0.0:1.0:0.0:0.0	.	353	O95522	PRA12_HUMAN	V	353	ENSP00000350358:L353V	ENSP00000350358:L353V	L	+	1	2	PRAMEF12	12759934	0.095000	0.21747	0.008000	0.14137	0.179000	0.23085	1.284000	0.33249	1.879000	0.54435	0.195000	0.17529	CTG	PRAMEF12	-	NULL		0.587	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	C	XM_372760		12837347	1	no_errors	ENST00000357726	ensembl	human	known	70_37	missense	SNP	0.060	G	G	12837347	C	G	12837347	3	3	71	1	0	0	0	0	1	0	0	0	12455	680	24	4	1067	4	PRAMEF12	1	12837347	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	3041340	12837347	236413274	2	10397										
EXTL1	2134	genome.wustl.edu	37	chr1	26357957	26357957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tctcattcccccaggctcccGccctgagggcagattcagcg	10	17	2	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:26357957G>A	ENST00000374280.3	+	6	2108	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	414					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCTCCCGCCCTGAGGGC	0.632																																																	0													12	13	13					1																	26357957		2189	4283	6472	SO:0001583	missense	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1241G>A	1.37:g.26357957G>A	ENSP00000363398:p.Arg414His		Q6GSC1	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R414H	ENST00000374280.3	37	c.1241	CCDS271.1	1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633161	0.29068	.	.	ENSG00000158008	ENST00000374280	D	0.95205	-3.64	5.13	0.617	0.17619	.	0.430328	0.24927	N	0.034486	D	0.89989	0.6875	L	0.50333	1.59	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.80690	-0.1270	10	0.41790	T	0.15	-3.0456	8.1304	0.31024	0.394:0.0:0.606:0.0	.	414	Q92935	EXTL1_HUMAN	H	414	ENSP00000363398:R414H	ENSP00000363398:R414H	R	+	2	0	EXTL1	26230544	0.592000	0.26832	0.003000	0.11579	0.990000	0.78478	2.109000	0.41863	0.201000	0.20466	0.561000	0.74099	CGC	EXTL1	-	NULL		0.632	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL1	HGNC	protein_coding	OTTHUMT00000019749.1	G	NM_004455		26357957	1	no_errors	ENST00000374280	ensembl	human	known	70_37	missense	SNP	0.000	A	A	26357957	G	A	26357957	3	1	71	1	0	0	0	0	1	0	0	0	5337	1087	38	2	1263	2	EXTL1	1	26357957	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	13520610	26357957	222892664	3	10398										
GPR3	2827	genome.wustl.edu	37	chr1	27720315	27720315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	caggtaccatgatgtggggtGcaggcagccctctggcctgg	16	11	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:27720315G>A	ENST00000374024.3	+	2	112	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	5					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GATGTGGGGTGCAGGCAGCCC	0.632																																																	0													100	104	103					1																	27720315		2203	4300	6503	SO:0001583	missense	2827			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.13G>A	1.37:g.27720315G>A	ENSP00000363136:p.Ala5Thr		A8K570	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn	p.A5T	ENST00000374024.3	37	c.13	CCDS303.1	1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477877	0.26511	.	.	ENSG00000181773	ENST00000374024	T	0.74737	-0.87	5.31	4.4	0.53042	.	0.323047	0.23409	N	0.048483	T	0.55033	0.1895	N	0.22421	0.69	0.33569	D	0.598416	B	0.20052	0.041	B	0.23150	0.044	T	0.53563	-0.8421	10	0.02654	T	1	.	9.9419	0.41585	0.0941:0.0:0.9059:0.0	.	5	P46089	GPR3_HUMAN	T	5	ENSP00000363136:A5T	ENSP00000363136:A5T	A	+	1	0	GPR3	27592902	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	2.577000	0.46042	1.252000	0.44001	-0.379000	0.06801	GCA	GPR3	-	prints_GPR3_rcpt		0.632	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1	G	NM_005281		27720315	1	no_errors	ENST00000374024	ensembl	human	known	70_37	missense	SNP	0.878	A	A	27720315	G	A	27720315	3	1	71	1	0	0	0	0	1	0	0	0	6705	1319	46	4	15	4	GPR3	1	27720315	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	1362358	27720315	221530306	4	10399										
OPRD1	4985	genome.wustl.edu	37	chr1	29189591	29189591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gcgctgcacctgtgcatcgcGctgggctacgccaatagcag	13	14	0	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:29189591G>A	ENST00000234961.2	+	3	1157	c.915G>A	c.(913-915)gcG>gcA	p.A305A		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	305					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGTGCATCGCGCTGGGCTACG	0.652																																																	0													28	25	26					1																	29189591		2203	4300	6503	SO:0001819	synonymous_variant	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.915G>A	1.37:g.29189591G>A			B5B0B8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.A305	ENST00000234961.2	37	c.915	CCDS329.1	1																																																																																			OPRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt		0.652	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	G	NM_000911		29189591	1	no_errors	ENST00000234961	ensembl	human	known	70_37	silent	SNP	0.406	A	A	29189591	G	A	29189591	2	1	71	1	0	0	0	0	0	0	0	1	10908	1074	38	2		2	OPRD1	1	29189591	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	1469276	29189591	220061030	5	10400										
C1orf94	84970	genome.wustl.edu	37	chr1	34663356	34663356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ccctggacccaaggagcccaCagggctgagcccatttctgc	11	16	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:34663356C>A	ENST00000488417.1	+	2	971	c.851C>A	c.(850-852)aCa>aAa	p.T284K	C1orf94_ENST00000373374.3_Missense_Mutation_p.T94K	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	284										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGGAGCCCACAGGGCTGAGC	0.587																																																	0													73	66	68					1																	34663356		2203	4300	6503	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.851C>A	1.37:g.34663356C>A	ENSP00000435634:p.Thr284Lys		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.T284K	ENST00000488417.1	37	c.851	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	C	3.207	-0.162440	0.06502	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.23552	1.9;1.9	4.78	-1.14	0.09741	.	1.553530	0.03626	N	0.237216	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	B	0.22146	0.065	B	0.22152	0.038	T	0.21075	-1.0256	10	0.33141	T	0.24	-13.7355	4.3519	0.11160	0.0:0.4039:0.1666:0.4295	.	284	Q6P1W5	CA094_HUMAN	K	94;284	ENSP00000362472:T94K;ENSP00000435634:T284K	ENSP00000362472:T94K	T	+	2	0	C1orf94	34435943	0.000000	0.05858	0.041000	0.18516	0.020000	0.10135	-0.008000	0.12788	-0.195000	0.10382	-0.252000	0.11476	ACA	C1orf94	-	NULL		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	C	NM_032884		34663356	1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.001	A	A	34663356	C	A	34663356	3	1	71	1	0	0	0	0	1	0	0	0	2076	478	17	4	857	4	C1orf94	1	34663356	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	5473765	34663356	214587265	6	10401										
COL11A1	1301	genome.wustl.edu	37	chr1	103474021	103474021	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	caaatttttattttttacctGaggacctggatcaccactct	5	10	2	1	rs377107722		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:103474021G>A	ENST00000370096.3	-	15	1993	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q522*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q445*|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q573*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	561	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTTACCTGAGGACCTGGA	0.363																																																	0								G	stop/GLN,stop/GLN,stop/GLN,stop/GLN	0,4402		0,0,2201	42	50	47		1564,1681,1717,1333	5.6	1	1		47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,,	522/1768,561/1807,573/1819,445/1691	103474021	1,13001	2201	4300	6501	SO:0001587	stop_gained	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1681C>T	1.37:g.103474021G>A	ENSP00000359114:p.Gln561*		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.Q573*	ENST00000370096.3	37	c.1717	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.722809	0.98929	0.0	1.16E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.58	5.58	0.84498	.	0.116455	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.5574	0.95357	0.0:0.0:1.0:0.0	.	.	.	.	X	561;573;522;445	.	ENSP00000302551:Q522X	Q	-	1	0	COL11A1	103246609	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.190000	0.94934	2.623000	0.88846	0.655000	0.94253	CAG	COL11A1	-	pfam_Collagen		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103474021	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	103474021	G	A	103474021	4	1	71	1	0	0	0	0	0	1	0	0	3672	1299	45	1	3951	1	COL11A1	1	103474021	Nonsense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	68810665	103474021	145776600	7	10402										
C1orf103	55791	genome.wustl.edu	37	chr1	111494603	111494603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ttaacaggaacaagagatggCgtaaaaggctgtagattatc	11	5	0	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:111494603C>T	ENST00000369763.4	-	2	1293	c.903G>A	c.(901-903)acG>acA	p.T301T	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAAGAGATGGCGTAAAAGGCT	0.348																																																	0													100	95	96					1																	111494603		2203	4300	6503	SO:0001819	synonymous_variant	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.903G>A	1.37:g.111494603C>T			Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	NULL	p.T301	ENST00000369763.4	37	c.903	CCDS30800.1	1																																																																																			LRIF1	-	NULL		0.348	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111494603	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	silent	SNP	0.898	T	T	111494603	C	T	111494603	2	4	71	1	0	0	0	0	0	0	0	1	1982	755	27	2		2	C1orf103	1	111494603	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	8020582	111494603	137756018	8	10403										
TARS2	80222	genome.wustl.edu	37	chr1	150477120	150477120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctttcaaggcaggcgggtgcCctggagcgtccagtcctcat	13	13	2	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:150477120C>T	ENST00000369064.3	+	15	1765	c.1731C>T	c.(1729-1731)gcC>gcT	p.A577A	TARS2_ENST00000369054.2_Silent_p.A447A|TARS2_ENST00000606933.1_Silent_p.A495A	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	577					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGCGGGTGCCCTGGAGCGTC	0.527																																																	0													112	118	116					1																	150477120		2203	4300	6503	SO:0001819	synonymous_variant	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1731C>T	1.37:g.150477120C>T			Q53GW7|Q96I50|Q9H9V2	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.A577	ENST00000369064.3	37	c.1731	CCDS952.1	1																																																																																			TARS2	-	pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	C	NM_025150		150477120	1	no_errors	ENST00000369064	ensembl	human	known	70_37	silent	SNP	0.993	T	T	150477120	C	T	150477120	2	4	71	1	0	0	0	0	0	0	0	1	15590	610	22	4		4	TARS2	1	150477120	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	38982517	150477120	98773501	9	10404										
C1orf43	25912	genome.wustl.edu	37	chr1	154186400	154186400	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	atggcatccagagctttcatCctatacagatagttgtagca	8	9	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:154186400C>T	ENST00000368521.5	-	4	507	c.309G>A	c.(307-309)agG>agA	p.R103R	C1orf43_ENST00000368516.1_Silent_p.R69R|C1orf43_ENST00000350592.3_Silent_p.R69R|C1orf43_ENST00000368518.1_Silent_p.R103R|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000362076.4_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	103						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GAGCTTTCATCCTATACAGAT	0.488																																																	0													150	142	145					1																	154186400		2203	4300	6503	SO:0001819	synonymous_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.309G>A	1.37:g.154186400C>T			A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Silent	SNP	pfam_NICE-3_prd	p.R103	ENST00000368521.5	37	c.309	CCDS41404.1	1																																																																																			C1orf43	-	pfam_NICE-3_prd		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	C	NM_015449		154186400	-1	no_errors	ENST00000368521	ensembl	human	known	70_37	silent	SNP	0.997	T	T	154186400	C	T	154186400	2	4	71	1	0	0	0	0	0	0	0	1	2045	854	30	1		1	C1orf43	1	154186400	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	3709280	154186400	95064221	10	10405										
OR6K2	81448	genome.wustl.edu	37	chr1	158669736	158669736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cacacgtggaaaatgctgtgCggcggcctccagctgaatga	13	11	0	2	rs532035184		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:158669736C>T	ENST00000359610.2	-	1	750	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAATGCTGTGCGGCGGCCTCC	0.463																																																	0													111	99	103					1																	158669736		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.707G>A	1.37:g.158669736C>T	ENSP00000352626:p.Arg236His		B9EH33|Q6IFR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R236H	ENST00000359610.2	37	c.707	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	c	0.124	-1.121461	0.01785	.	.	ENSG00000196171	ENST00000359610	T	0.00034	8.87	4.94	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.190339	0.23780	N	0.044629	T	0.00039	0.0001	N	0.10972	0.075	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.10965	-1.0607	10	0.18710	T	0.47	-1.7032	8.4686	0.32971	0.0:0.6095:0.0:0.3905	.	236	Q8NGY2	OR6K2_HUMAN	H	236	ENSP00000352626:R236H	ENSP00000352626:R236H	R	-	2	0	OR6K2	156936360	0.000000	0.05858	0.056000	0.19401	0.018000	0.09664	-0.834000	0.04391	0.028000	0.15324	-0.726000	0.03593	CGC	OR6K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	C	NM_001005279		158669736	-1	no_errors	ENST00000359610	ensembl	human	known	70_37	missense	SNP	0.000	T	T	158669736	C	T	158669736	3	4	71	1	0	0	0	0	1	0	0	0	11226	768	27	2	271	2	OR6K2	1	158669736	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	4483336	158669736	90580885	11	10406										
C1orf106	55765	genome.wustl.edu	37	chr1	200860773	200860773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	caaacaggtcctgaagctgcGaggctggagtggagggcgca	17	9	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:200860773G>A	ENST00000367342.4	+	1	305	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	35										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGAAGCTGCGAGGCTGGAGT	0.652																																																	0													22	24	23					1																	200860773		2199	4300	6499	SO:0001819	synonymous_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.105G>A	1.37:g.200860773G>A			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.A35	ENST00000367342.4	37	c.105		1																																																																																			C1orf106	-	NULL		0.652	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	G	NM_018265		200860773	1	no_errors	ENST00000367342	ensembl	human	known	70_37	silent	SNP	0.001	A	A	200860773	G	A	200860773	2	1	71	1	0	0	0	0	0	0	0	1	1985	1045	37	1		1	C1orf106	1	200860773	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	42191037	200860773	48389848	12	10407										
PLXNA2	5362	genome.wustl.edu	37	chr1	208201416	208201416	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ggcactcagcatgttgaactCcacggcgtgcaggcgggact	14	12	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:208201416C>A	ENST00000367033.3	-	31	6284	c.5527G>T	c.(5527-5529)Gag>Tag	p.E1843*	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1843					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGTTGAACTCCACGGCGTGC	0.567																																																	0													152	138	143					1																	208201416		2203	4300	6503	SO:0001587	stop_gained	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5527G>T	1.37:g.208201416C>A	ENSP00000356000:p.Glu1843*		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1843*	ENST00000367033.3	37	c.5527	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	52	18.747641	0.99910	.	.	ENSG00000076356	ENST00000367033	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4314	0.94768	0.0:1.0:0.0:0.0	.	.	.	.	X	1843	.	ENSP00000356000:E1843X	E	-	1	0	PLXNA2	206268039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.715000	0.61909	2.588000	0.87417	0.650000	0.86243	GAG	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208201416	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	208201416	C	A	208201416	4	1	71	1	0	0	0	0	0	1	0	0	12144	864	30	3	165	3	PLXNA2	1	208201416	Nonsense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	7340643	208201416	41049205	13	10408										
MIA3	375056	genome.wustl.edu	37	chr1	222803455	222803455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	aactgaagtcagcgcagcagGagagcctgccctataatatg	11	10	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr1:222803455G>A	ENST00000344922.5	+	4	2918	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E965K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	965					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCGCAGCAGGAGAGCCTGCC	0.433																																																	0													75	73	74					1																	222803455		1994	4182	6176	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2893G>A	1.37:g.222803455G>A	ENSP00000340900:p.Glu965Lys		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E965K	ENST00000344922.5	37	c.2893	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.78|13.78	2.338103|2.338103	0.41398|0.41398	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.04603|.	3.59;3.59|.	5.25|5.25	4.34|4.34	0.51931|0.51931	.|.	.|.	.|.	.|.	.|.	T|T	0.35219|0.35219	0.0924|0.0924	L|L	0.31752|0.31752	0.955|0.955	0.21897|0.21897	N|N	0.999486|0.999486	D;B|.	0.56287|.	0.975;0.007|.	P;B|.	0.56343|.	0.796;0.005|.	T|T	0.19910|0.19910	-1.0291|-1.0291	9|5	0.41790|.	T|.	0.15|.	.|.	10.2707|10.2707	0.43481|0.43481	0.0742:0.1364:0.7894:0.0|0.0742:0.1364:0.7894:0.0	.|.	965;965|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|E	965|547	ENSP00000340900:E965K;ENSP00000340587:E965K|.	ENSP00000325973:E965K|.	E|G	+|+	1|2	0|0	MIA3|MIA3	220870078|220870078	0.077000|0.077000	0.21312|0.21312	0.988000|0.988000	0.46212|0.46212	0.772000|0.772000	0.43724|0.43724	1.414000|1.414000	0.34736|0.34736	1.353000|1.353000	0.45828|0.45828	0.462000|0.462000	0.41574|0.41574	GAG|GGA	MIA3	-	NULL		0.433	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222803455	1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.689	A	A	222803455	G	A	222803455	3	1	71	1	0	0	0	0	1	0	0	0	9588	1175	41	1	2907	1	MIA3	1	222803455	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	14602039	222803455	26447166	14	10409										
NRXN1	9378	genome.wustl.edu	37	chr2	51149818	51149818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tggtcgcccatcatcaggtgCgccagaccttgaagggaaac	12	12	2	2	rs201027928		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:51149818C>T	ENST00000406316.2	-	4	2274	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NRXN1_ENST00000405581.1_Silent_p.A266A|NRXN1_ENST00000401669.2_Silent_p.A266A|NRXN1_ENST00000406859.3_Silent_p.A266A|NRXN1_ENST00000405472.3_Silent_p.A266A|NRXN1_ENST00000402717.3_Silent_p.A266A|NRXN1_ENST00000404971.1_Silent_p.A299A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	266					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A300A(1)|p.A299A(1)|p.A266A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGGTGCGCCAGACCTT	0.483																																																	3	Substitution - coding silent(3)	endometrium(3)						C	,	2,4106		0,2,2052	79	78	78		897,798	4.3	1	2		78	0,8352		0,0,4176	no	coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4	,	0,2,6228	TT,TC,CC		0.0,0.0487,0.0161	,	299/1548,266/1478	51149818	2,12458	2054	4176	6230	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.798G>A	2.37:g.51149818C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A266	ENST00000406316.2	37	c.798	CCDS54360.1	2																																																																																			NRXN1	-	NULL		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			51149818	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51149818	C	T	51149818	2	4	71	1	0	0	0	0	0	0	0	1	10689	755	27	2		2	NRXN1	2	51149818	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		51149818	192049555	15	10410										
GPR45	11250	genome.wustl.edu	37	chr2	105858922	105858922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tggtcaccttggtggtggccGtgttcttcgcgccctttggc	14	12	2	0	rs560190604		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:105858922G>A	ENST00000258456.1	+	1	723	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGTGGTGGCCGTGTTCTTCGC	0.672																																																	0													41	38	39					2																	105858922		2203	4300	6503	SO:0001583	missense	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.607G>A	2.37:g.105858922G>A	ENSP00000258456:p.Val203Met		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V203M	ENST00000258456.1	37	c.607	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056289	0.55325	.	.	ENSG00000135973	ENST00000258456	T	0.73152	-0.72	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.146155	0.44688	D	0.000422	T	0.75034	0.3795	M	0.65498	2.005	0.52099	D	0.999948	P	0.51351	0.944	P	0.52957	0.714	T	0.75676	-0.3235	10	0.45353	T	0.12	-15.146	10.0802	0.42384	0.1317:0.0:0.8683:0.0	.	203	Q9Y5Y3	GPR45_HUMAN	M	203	ENSP00000258456:V203M	ENSP00000258456:V203M	V	+	1	0	GPR45	105225354	1.000000	0.71417	0.985000	0.45067	0.349000	0.29174	3.395000	0.52558	2.337000	0.79520	0.462000	0.41574	GTG	GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.672	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	G	NM_007227		105858922	1	no_errors	ENST00000258456	ensembl	human	known	70_37	missense	SNP	0.952	A	A	105858922	G	A	105858922	3	1	71	1	0	0	0	0	1	0	0	0	6715	1145	40	2	609	2	GPR45	2	105858922	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	54709104	105858922	137340451	16	10411										
GPR39	2863	genome.wustl.edu	37	chr2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cagcgcccgctttgtgcagcGcccgttgctcttcgcgtccc	11	18	1	0	rs548819578		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627																																																	0													41	43	43					2																	133402986		2203	4300	6503	SO:0001583	missense	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1169G>A	2.37:g.133402986G>A	ENSP00000327417:p.Arg390His		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R390H	ENST00000329321.3	37	c.1169	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	GPR39	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC	GPR39	-	NULL		0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	G			133402986	1	no_errors	ENST00000329321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133402986	G	A	133402986	3	1	71	1	0	0	0	0	1	0	0	0	6712	1087	38	2	1175	2	GPR39	2	133402986	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	27544064	133402986	109796387	17	10412										
TTN	7273	genome.wustl.edu	37	chr2	179507003	179507003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ttcctttggttcaggtttacGttccggaagtaatttgcgaa	10	7	1	0	rs528749203		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:179507003G>A	ENST00000591111.1	-	169	35820	c.35596C>T	c.(35596-35598)Cgt>Tgt	p.R11866C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4567C|TTN_ENST00000460472.2_Missense_Mutation_p.R4442C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10939C|TTN_ENST00000589042.1_Missense_Mutation_p.R13507C|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4634C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11866	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGTTTACGTTCCGGAAGT	0.318																																																	0													57	53	54					2																	179507003		1803	4069	5872	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35596C>T	2.37:g.179507003G>A	ENSP00000465570:p.Arg11866Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R10939C	ENST00000591111.1	37	c.32815		2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859858	0.51482	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.63096	-0.02;0.18;0.19;0.15	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45397	0.1340	N	0.08118	0	0.31862	N	0.620849	B;B;B;B;P	0.49447	0.199;0.199;0.199;0.199;0.924	B;B;B;B;B	0.40782	0.031;0.031;0.058;0.058;0.34	T	0.59500	-0.7443	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.2705:0.7295:0.0	.	4442;4567;4634;11866;10633	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	C	10939;4442;4634;4567;4442;828;166	ENSP00000343764:R10939C;ENSP00000434586:R4442C;ENSP00000340554:R4634C;ENSP00000352154:R4567C	ENSP00000340554:R4634C	R	-	1	0	TTN	179215248	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.470000	0.45119	2.610000	0.88304	0.591000	0.81541	CGT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179507003	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179507003	G	A	179507003	3	1	71	1	0	0	0	0	1	0	0	0	16766	1145	40	2	67750	2	TTN	2	179507003	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	46104017	179507003	63692370	18	10413										
TTN	7273	genome.wustl.edu	37	chr2	179594157	179594157	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tcggtcaatgtgtattttttGctgcttcgaatttccctgtt	8	8	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:179594157G>T	ENST00000591111.1	-	62	17999	c.17775C>A	c.(17773-17775)agC>agA	p.S5925R	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4998R|TTN_ENST00000589042.1_Missense_Mutation_p.S6242R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12720	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATTTTTTGCTGCTTCGAA	0.438																																																	0													139	131	134					2																	179594157		1928	4128	6056	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17775C>A	2.37:g.179594157G>T	ENSP00000465570:p.Ser5925Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S4998R	ENST00000591111.1	37	c.14994		2	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879510	0.33162	.	.	ENSG00000155657	ENST00000342992	T	0.49432	0.78	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64327	0.2588	M	0.74881	2.28	0.80722	D	1	P	0.42483	0.781	P	0.54965	0.765	T	0.66236	-0.5974	9	0.87932	D	0	.	13.4996	0.61447	0.0711:0.0:0.9289:0.0	.	5925	Q8WZ42	TITIN_HUMAN	R	4998	ENSP00000343764:S4998R	ENSP00000343764:S4998R	S	-	3	2	TTN	179302402	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.115000	0.64655	2.795000	0.96236	0.655000	0.94253	AGC	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179594157	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179594157	G	T	179594157	3	4	71	1	0	0	0	0	1	0	0	0	16766	1310	46	4	85999	4	TTN	2	179594157	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	87154	179594157	63605216	19	10414										
COL5A2	1290	genome.wustl.edu	37	chr2	189927592	189927592	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	acacacaaaaatcacataccGgcgggcccacaggaccagaa	8	14	1	1	rs145404046		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:189927592G>A	ENST00000374866.3	-	29	2250	c.1976C>T	c.(1975-1977)cCg>cTg	p.P659L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	659					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCACATACCGGCGGGCCCAC	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		13588	0		0	False		,,,				2504	0																0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	66	73	71		1976	4.7	1	2	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	COL5A2	NM_000393.3	98	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging	659/1500	189927592	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1977+1C>T	2.37:g.189927592G>A			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P659L	ENST00000374866.3	37	c.1976	CCDS33350.1	2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.84	3.486971	0.63962	4.54E-4	2.33E-4	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.98684	-5.07	4.72	4.72	0.59763	.	0.144257	0.31784	N	0.007063	D	0.97583	0.9208	L	0.58925	1.835	0.58432	D	0.999995	B;D	0.59767	0.056;0.986	B;P	0.44394	0.007;0.448	D	0.97493	1.0055	9	.	.	.	.	18.0434	0.89325	0.0:0.0:1.0:0.0	.	299;659	Q5PR22;P05997	.;CO5A2_HUMAN	L	659;299	ENSP00000364000:P659L	.	P	-	2	0	COL5A2	189635837	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.685000	0.84117	2.339000	0.79563	0.467000	0.42956	CCG	COL5A2	-	pfam_Collagen		0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393	Missense_Mutation	189927592	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189927592	G	A	189927592	5	1	71	1	0	0	0	0	0	0	1	0	3702	1130	39	2	2627	2	COL5A2	2	189927592	Splice_Site	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	10333435	189927592	53271781	20	10415										
COL5A2	1290	genome.wustl.edu	37	chr2	189927992	189927992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gacggccatcttcccctggcGcaccctatagaattgacagg	10	14	1	2	rs145169816	byFrequency	TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:189927992G>A	ENST00000374866.3	-	27	2049	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	592					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCCTGGCGCACCCTATAG	0.507																																																	0													48	54	52					2																	189927992		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1775C>T	2.37:g.189927992G>A	ENSP00000364000:p.Ala592Val		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A592V	ENST00000374866.3	37	c.1775	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911301	0.72983	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94457	-3.43	4.82	4.82	0.62117	.	0.147776	0.31071	N	0.008302	D	0.94331	0.8178	L	0.31476	0.935	0.58432	D	0.999997	P;D	0.76494	0.905;0.999	B;D	0.63488	0.304;0.915	D	0.93493	0.6837	9	.	.	.	.	15.4437	0.75213	0.0:0.1388:0.8612:0.0	.	232;592	Q5PR22;P05997	.;CO5A2_HUMAN	V	592;232	ENSP00000364000:A592V	.	A	-	2	0	COL5A2	189636237	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.274000	0.65569	2.377000	0.81083	0.460000	0.39030	GCG	COL5A2	-	NULL		0.507	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189927992	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189927992	G	A	189927992	3	1	71	1	0	0	0	0	1	0	0	0	3702	1087	38	2	2836	2	COL5A2	2	189927992	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	400	189927992	53271381	21	10416										
PID1	55022	genome.wustl.edu	37	chr2	230020601	230020601	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	acagctcaatggcctccggcTcatggaagatgaccgctggg	13	12	2	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:230020601T>G	ENST00000354069.6	-	2	239	c.209A>C	c.(208-210)gAg>gCg	p.E70A	PID1_ENST00000392055.3_Missense_Mutation_p.E37A|PID1_ENST00000409462.1_Intron|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000392054.3_Missense_Mutation_p.E68A			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	70					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCCTCCGGCTCATGGAAGAT	0.507																																																	0													115	110	112					2																	230020601		2203	4300	6503	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.209A>C	2.37:g.230020601T>G	ENSP00000283937:p.Glu70Ala		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.E70A	ENST00000354069.6	37	c.209		2	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818492	0.50633	.	.	ENSG00000153823	ENST00000392054;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.74	5.74	0.90152	.	0.125811	0.51477	D	0.000082	T	0.65144	0.2663	L	0.29908	0.895	0.58432	D	0.999996	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.81914	0.981;0.995;0.98	T	0.63060	-0.6721	8	.	.	.	-36.9367	15.5232	0.75881	0.0:0.0:0.0:1.0	.	37;68;70	Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;PCLI1_HUMAN	A	68;37;70;70	.	.	E	-	2	0	PID1	229728845	1.000000	0.71417	0.985000	0.45067	0.559000	0.35586	7.560000	0.82277	2.317000	0.78254	0.460000	0.39030	GAG	PID1	-	NULL		0.507	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	T	NM_017933		230020601	-1	no_errors	ENST00000354069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	230020601	T	G	230020601	3	3	71	1	0	0	0	0	1	0	0	0	11906	1551	54	5	551	5	PID1	2	230020601	Missense_Mutation	SNP	T	TCGA-EA-A3HQ-01A-11D-A20U-09	40092609	230020601	13178772	22	10417										
PPP1R7	5510	genome.wustl.edu	37	chr2	242092929	242092929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctgaagaatccggcgatgaaGaagggaagaaacacagcagt	13	7	0	5			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr2:242092929G>A	ENST00000234038.6	+	2	565	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	PPP1R7_ENST00000406106.3_Missense_Mutation_p.E31K|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000404405.3_Missense_Mutation_p.E31K|PPP1R7_ENST00000407025.1_Missense_Mutation_p.E31K	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	31					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGGCGATGAAGAAGGGAAGAA	0.537																																					NSCLC(62;446 1299 5417 11238 27640)												0													118	107	111					2																	242092929		2203	4300	6503	SO:0001583	missense	5510			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.91G>A	2.37:g.242092929G>A	ENSP00000234038:p.Glu31Lys		B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E31K	ENST00000234038.6	37	c.91	CCDS2546.1	2	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554506	0.65425	.	.	ENSG00000115685	ENST00000438799;ENST00000407025;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000427172	T;T;T;T;T;T;T	0.51574	0.81;0.7;0.7;0.91;1.05;1.13;1.23	4.61	4.61	0.57282	.	0.051691	0.85682	D	0.000000	T	0.35068	0.0919	N	0.08118	0	0.80722	D	1	B;B;B;B	0.32245	0.247;0.247;0.361;0.247	B;B;B;B	0.39738	0.163;0.114;0.308;0.163	T	0.36817	-0.9732	10	0.42905	T	0.14	-9.8066	15.6297	0.76893	0.0:0.0:1.0:0.0	.	15;31;31;31	C9JD73;Q15435;Q15435-3;B5MBZ8	.;PP1R7_HUMAN;.;.	K	15;31;31;31;31;31;40	ENSP00000396376:E15K;ENSP00000385657:E31K;ENSP00000234038:E31K;ENSP00000385498:E31K;ENSP00000409719:E31K;ENSP00000385022:E31K;ENSP00000397985:E40K	ENSP00000234038:E31K	E	+	1	0	PPP1R7	241741602	1.000000	0.71417	0.996000	0.52242	0.405000	0.30901	7.966000	0.87956	2.115000	0.64714	0.561000	0.74099	GAA	PPP1R7	-	NULL		0.537	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R7	HGNC	protein_coding	OTTHUMT00000257244.4	G	NM_002712		242092929	1	no_errors	ENST00000234038	ensembl	human	known	70_37	missense	SNP	1.000	A	A	242092929	G	A	242092929	3	1	71	1	0	0	0	0	1	0	0	0	12403	943	33	1	97	1	PPP1R7	2	242092929	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	12072328	242092929	1106444	23	10418										
C3orf20	84077	genome.wustl.edu	37	chr3	14744739	14744739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cgacccctgccctgaggcccGggagaagctgcaggagttgt	15	13	0	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:14744739G>A	ENST00000253697.3	+	6	1300	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	C3orf20_ENST00000435614.1_Missense_Mutation_p.R161Q|C3orf20_ENST00000412910.1_Missense_Mutation_p.R161Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	283						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCTGAGGCCCGGGAGAAGCTG	0.612																																																	0													115	121	119					3																	14744739		2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.848G>A	3.37:g.14744739G>A	ENSP00000253697:p.Arg283Gln		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.R283Q	ENST00000253697.3	37	c.848	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293988	0.60086	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.20881	2.34;2.04;2.04	5.61	4.75	0.60458	.	0.000000	0.44097	D	0.000500	T	0.12817	0.0311	N	0.24115	0.695	0.32039	N	0.598421	P	0.38020	0.615	B	0.30855	0.121	T	0.10847	-1.0612	10	0.54805	T	0.06	-27.0533	10.7088	0.45971	0.088:0.0:0.912:0.0	.	283	Q8ND61	CC020_HUMAN	Q	283;161;161	ENSP00000253697:R283Q;ENSP00000402933:R161Q;ENSP00000396081:R161Q	ENSP00000253697:R283Q	R	+	2	0	C3orf20	14719743	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.855000	0.48333	1.379000	0.46325	-0.224000	0.12420	CGG	C3orf20	-	NULL		0.612	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	G	NM_032137		14744739	1	no_errors	ENST00000253697	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14744739	G	A	14744739	3	1	71	1	0	0	0	0	1	0	0	0	2218	1116	39	2	862	2	C3orf20	3	14744739	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		14744739	183277691	24	10419										
BSN	8927	genome.wustl.edu	37	chr3	49698698	49698698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gtccccgctgatagccgtgcCccactgcagaagccacgcca	10	18	0	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:49698698C>T	ENST00000296452.4	+	6	9534	c.9420C>T	c.(9418-9420)gcC>gcT	p.A3140A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3140					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A3140A(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATAGCCGTGCCCCACTGCAGA	0.602																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											68	53	58					3																	49698698		2203	4300	6503	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9420C>T	3.37:g.49698698C>T			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.A3140	ENST00000296452.4	37	c.9420	CCDS2800.1	3																																																																																			BSN	-	NULL		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49698698	1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49698698	C	T	49698698	2	4	71	1	0	0	0	0	0	0	0	1	1533	610	22	4		4	BSN	3	49698698	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	34953959	49698698	148323732	25	10420										
BBX	56987	genome.wustl.edu	37	chr3	107466855	107466855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tgatgcttctacaaagcagtGtcaaacatctgccttgtttc	7	10	3	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:107466855G>A	ENST00000325805.8	+	9	1081	c.794G>A	c.(793-795)tGt>tAt	p.C265Y	BBX_ENST00000415149.2_Missense_Mutation_p.C265Y|BBX_ENST00000416476.2_Missense_Mutation_p.C265Y|BBX_ENST00000402543.1_Missense_Mutation_p.C265Y|BBX_ENST00000406780.1_Missense_Mutation_p.C265Y			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	265					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACAAAGCAGTGTCAAACATCT	0.363																																																	0													119	113	115					3																	107466855		2203	4300	6503	SO:0001583	missense	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.794G>A	3.37:g.107466855G>A	ENSP00000319974:p.Cys265Tyr		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.C265Y	ENST00000325805.8	37	c.794	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502144	0.44455	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	D;D;D;D;D;D	0.98747	-4.59;-4.59;-4.58;-5.11;-5.02;-4.59	5.79	5.79	0.91817	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.635928	0.17791	N	0.161891	D	0.98754	0.9581	L	0.54323	1.7	0.41788	D	0.989858	D;D;D;D	0.65815	0.991;0.991;0.974;0.995	P;P;P;D	0.79108	0.824;0.824;0.728;0.992	D	0.99655	1.0992	10	0.72032	D	0.01	-6.3789	15.5412	0.76048	0.0:0.0:1.0:0.0	.	265;265;265;265	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	Y	265;116;265;265;265;265;265	ENSP00000408358:C265Y;ENSP00000385317:C265Y;ENSP00000319974:C265Y;ENSP00000403860:C265Y;ENSP00000385518:C265Y;ENSP00000385530:C265Y	ENSP00000319742:C116Y	C	+	2	0	BBX	108949545	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	3.186000	0.50942	2.739000	0.93911	0.655000	0.94253	TGT	BBX	-	pfam_TF_HMG_box_BBX_DUF2028		0.363	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	G	NM_020235		107466855	1	no_errors	ENST00000325805	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107466855	G	A	107466855	3	1	71	1	0	0	0	0	1	0	0	0	1344	1377	48	4	816	4	BBX	3	107466855	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	57768157	107466855	90555575	26	10421										
MLF1	4291	genome.wustl.edu	37	chr3	158317887	158317887	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	atcatatccatgaccgagctCatgtcattaaaaagtcaaag	6	9	4	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:158317887C>T	ENST00000355893.5	+	5	631	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	MLF1_ENST00000359117.5_Missense_Mutation_p.H140Y|MLF1_ENST00000469452.1_Missense_Mutation_p.H97Y|MLF1_ENST00000484955.1_Missense_Mutation_p.H140Y|MLF1_ENST00000482628.1_Missense_Mutation_p.H140Y|MLF1_ENST00000471745.1_Missense_Mutation_p.H155Y|MLF1_ENST00000478894.2_Missense_Mutation_p.H155Y|MLF1_ENST00000392822.3_Missense_Mutation_p.H196Y|MLF1_ENST00000497004.1_3'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	165					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.H196Y(1)|p.H165Y(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGACCGAGCTCATGTCATTAA	0.338			T	NPM1	AML																																			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	2	Substitution - Missense(2)	lung(2)											81	90	87					3																	158317887		2203	4300	6503	SO:0001583	missense	4291			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.493C>T	3.37:g.158317887C>T	ENSP00000348157:p.His165Tyr		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.H196Y	ENST00000355893.5	37	c.586	CCDS3182.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.186665	0.94885	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T;T	0.68903	-0.09;-0.27;-0.24;-0.24;-0.18;-0.27;0.05;-0.24;-0.27;-0.36	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85027	0.0915	10	0.72032	D	0.01	-22.8716	20.6397	0.99537	0.0:1.0:0.0:0.0	.	97;196;165	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	Y	91;165;140;140;120;155;155;97;140;155;196;180	ENSP00000420410:H91Y;ENSP00000348157:H165Y;ENSP00000417835:H140Y;ENSP00000352025:H140Y;ENSP00000419636:H120Y;ENSP00000420134:H155Y;ENSP00000418595:H97Y;ENSP00000417141:H140Y;ENSP00000417777:H155Y;ENSP00000376568:H196Y	ENSP00000348157:H165Y	H	+	1	0	MLF1	159800581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.880000	0.98712	0.650000	0.86243	CAT	MLF1	-	pfam_Myeloid_leukemia_factor		0.338	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	C	NM_022443		158317887	1	no_errors	ENST00000392822	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158317887	C	T	158317887	3	4	71	1	0	0	0	0	1	0	0	0	9637	826	29	1	511	1	MLF1	3	158317887	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	50851032	158317887	39704543	27	10422										
IFT80	57560	genome.wustl.edu	37	chr3	159986236	159986236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	caagtatcgtttattagtttCctgtttaccaaatgtctcca	5	9	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr3:159986236C>T	ENST00000326448.7	-	19	2620	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.E901K|IFT80_ENST00000496589.1_Missense_Mutation_p.E593K|IFT80_ENST00000483465.1_Missense_Mutation_p.E593K	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	730					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTATTAGTTTCCTGTTTACCA	0.308																																																	0													106	109	108					3																	159986236		2203	4300	6503	SO:0001583	missense	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2188G>A	3.37:g.159986236C>T	ENSP00000312778:p.Glu730Lys		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E901K	ENST00000326448.7	37	c.2701	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.088581	0.94100	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;D;D	0.85339	-0.83;-1.97;-1.97	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000017	D	0.90909	0.7143	M	0.90483	3.12	0.80722	D	1	P	0.36144	0.539	B	0.44085	0.44	D	0.92528	0.6031	10	0.87932	D	0	.	17.9913	0.89170	0.0:1.0:0.0:0.0	.	730	Q9P2H3	IFT80_HUMAN	K	730;593;593	ENSP00000312778:E730K;ENSP00000418196:E593K;ENSP00000420646:E593K	ENSP00000312778:E730K	E	-	1	0	IFT80	161468930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.114000	0.77103	2.318000	0.78349	0.557000	0.71058	GAA	TRIM59	-	NULL		0.308	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Uniprot_genename	protein_coding	OTTHUMT00000352651.2	C	NM_020800		159986236	-1	no_errors	ENST00000483754	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159986236	C	T	159986236	3	4	71	1	0	0	0	0	1	0	0	0	7584	864	30	1	153	1	IFT80	3	159986236	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	1668349	159986236	38036194	28	10423										
CORIN	10699	genome.wustl.edu	37	chr4	47644044	47644044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	accatcagaaaggaagaggaGttcacatttatagagagggt	12	5	2	3			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:47644044G>A	ENST00000273857.4	-	16	2090	c.2091C>T	c.(2089-2091)aaC>aaT	p.N697N	CORIN_ENST00000502252.1_Silent_p.N630N|CORIN_ENST00000508498.1_Silent_p.N558N|CORIN_ENST00000505909.1_Silent_p.N660N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	697	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGAAGAGGAGTTCACATTTA	0.453																																																	0													80	78	78					4																	47644044		2203	4300	6503	SO:0001819	synonymous_variant	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2091C>T	4.37:g.47644044G>A			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.N697	ENST00000273857.4	37	c.2091	CCDS3477.1	4																																																																																			CORIN	-	superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pirsf_Peptidase_S1A_corin		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	G			47644044	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	silent	SNP	0.999	A	A	47644044	G	A	47644044	2	1	71	1	0	0	0	0	0	0	0	1	3757	1020	36	4		4	CORIN	4	47644044	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		47644044	143510232	29	10424										
NAA15	80155	genome.wustl.edu	37	chr4	140270690	140270690	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gattgcaagagagaaatcctGaaaactgggcctattacaaa	9	7	0	3			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:140270690G>T	ENST00000296543.5	+	7	1089	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.E256*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	256					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.E256K(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGAAATCCTGAAAACTGGGC	0.323																																																	1	Substitution - Missense(1)	lung(1)											45	43	43					4																	140270690		1799	4077	5876	SO:0001587	stop_gained	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.766G>T	4.37:g.140270690G>T	ENSP00000296543:p.Glu256*		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E256*	ENST00000296543.5	37	c.766	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.606501	0.98387	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.44	4.6	0.57074	.	0.102934	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.2601	15.8229	0.78673	0.0:0.0:0.8632:0.1368	.	.	.	.	X	256;130;256	.	ENSP00000296543:E256X	E	+	1	0	NAA15	140490140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	1.517000	0.48917	0.655000	0.94253	GAA	NAA15	-	smart_TPR_repeat,pirsf_NatA_aux_su		0.323	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140270690	1	no_errors	ENST00000296543	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	140270690	G	T	140270690	4	4	71	1	0	0	0	0	0	1	0	0	10141	1291	45	3	792	3	NAA15	4	140270690	Nonsense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	92626646	140270690	50883586	30	10425										
FBXW7	55294	genome.wustl.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	99	Substitution - Missense(98)|Unknown(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)											260	223	235					4																	153249385		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465C	ENST00000281708.4	37	c.1393	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153249385	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153249385	G	A	153249385	3	1	71	1	0	0	0	0	1	0	0	0	5787	1087	38	2	746	2	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	12978695	153249385	37904891	31	10426										
MFAP3L	9848	genome.wustl.edu	37	chr4	170912847	170912847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tgctcgtgcagcgatgaggcGtccgagtcagcggcagggga	18	10	1	1	rs377059924		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr4:170912847G>A	ENST00000361618.3	-	3	1219	c.912C>T	c.(910-912)gaC>gaT	p.D304D	MFAP3L_ENST00000393704.3_Silent_p.D201D|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCGATGAGGCGTCCGAGTCAG	0.577													G|||	1	0.000199681	0	0	5008	,	,		18805	0.001		0	False		,,,				2504	0																0													64	56	59					4																	170912847		2203	4300	6503	SO:0001819	synonymous_variant	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.912C>T	4.37:g.170912847G>A			A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D304	ENST00000361618.3	37	c.912	CCDS34103.1	4																																																																																			MFAP3L	-	NULL		0.577	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	G	NM_021647		170912847	-1	no_errors	ENST00000361618	ensembl	human	known	70_37	silent	SNP	0.429	A	A	170912847	G	A	170912847	2	1	71	1	0	0	0	0	0	0	0	1	9539	1136	40	2		2	MFAP3L	4	170912847	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	17663462	170912847	20241429	32	10427										
GHR	2690	genome.wustl.edu	37	chr5	42629161	42629161	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cacagcagctatccttagcaGagcaccctggagtctgcaaa	9	13	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:42629161G>C	ENST00000230882.4	+	3	282	c.92G>C	c.(91-93)aGa>aCa	p.R31T	GHR_ENST00000357703.3_Intron|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	31					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATCCTTAGCAGAGCACCCTGG	0.378																																																	0													100	108	106					5																	42629161		1821	4043	5864	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.92G>C	5.37:g.42629161G>C	ENSP00000230882:p.Arg31Thr		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R31T	ENST00000230882.4	37	c.92	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908247	0.52333	.	.	ENSG00000112964	ENST00000230882;ENST00000356276	D	0.84730	-1.89	4.21	2.4	0.29515	.	0.700707	0.13199	N	0.406082	T	0.66366	0.2782	N	0.08118	0	0.45852	D	0.998718	B	0.26935	0.164	B	0.19946	0.027	T	0.56007	-0.8050	10	0.25106	T	0.35	-1.2447	6.2442	0.20807	0.218:0.0:0.782:0.0	.	31	P10912	GHR_HUMAN	T	31	ENSP00000230882:R31T	ENSP00000230882:R31T	R	+	2	0	GHR	42664918	0.235000	0.23794	0.596000	0.28811	0.693000	0.40251	0.339000	0.19875	0.702000	0.31825	0.655000	0.94253	AGA	GHR	-	NULL		0.378	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	G	NM_000163		42629161	1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	0.721	C	C	42629161	G	C	42629161	3	2	71	1	0	0	0	0	1	0	0	0	6390	942	33	1	98	1	GHR	5	42629161	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		42629161	138286099	33	10428										
PELO	53918	genome.wustl.edu	37	chr5	52096723	52096723	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	actcgggccaaggtggaggtGaacatccctaggaaaaggaa	14	8	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:52096723G>A	ENST00000274311.2	+	2	1480	c.495G>A	c.(493-495)gtG>gtA	p.V165V	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	165					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.V165V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGTGGAGGTGAACATCCCTA	0.577																																																	1	Substitution - coding silent(1)	large_intestine(1)											92	80	84					5																	52096723		2203	4300	6503	SO:0001819	synonymous_variant	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.495G>A	5.37:g.52096723G>A			Q9GZS6|Q9Y306	Silent	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.V165	ENST00000274311.2	37	c.495	CCDS3956.1	5																																																																																			PELO	-	pfam_eRF1_2,tigrfam_Transl_rel_pelota-like		0.577	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	G	NM_015946		52096723	1	no_errors	ENST00000274311	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52096723	G	A	52096723	2	1	71	1	0	0	0	0	0	0	0	1	11748	1277	45	1		1	PELO	5	52096723	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	9467562	52096723	128818537	34	10429										
SV2C	22987	genome.wustl.edu	37	chr5	75581009	75581009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tggagcttcagcatgggatcGgcctaccagtttcacagttg	12	10	2	0	rs200052408		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:75581009G>A	ENST00000502798.2	+	5	1378	c.936G>A	c.(934-936)tcG>tcA	p.S312S	SV2C_ENST00000322285.7_Silent_p.S312S|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	312					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCATGGGATCGGCCTACCAGT	0.587																																																	0													233	236	235					5																	75581009		2131	4254	6385	SO:0001819	synonymous_variant	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.936G>A	5.37:g.75581009G>A			Q496K1|Q9UPU8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.S312	ENST00000502798.2	37	c.936	CCDS43331.1	5																																																																																			SV2C	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.587	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	G			75581009	1	no_errors	ENST00000502798	ensembl	human	known	70_37	silent	SNP	0.181	A	A	75581009	G	A	75581009	2	1	71	1	0	0	0	0	0	0	0	1	15449	1103	39	2		2	SV2C	5	75581009	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	23484286	75581009	105334251	35	10430										
AP3B1	8546	genome.wustl.edu	37	chr5	77471612	77471612	+	Frame_Shift_Del	DEL	C	C	-													0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ttcagaacatacatacctttCtttgaattgacatagttgct							TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:77471612delC	ENST00000255194.6	-	10	1266	c.1091delG	c.(1090-1092)agafs	p.R364fs	AP3B1_ENST00000519295.1_Frame_Shift_Del_p.R315fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	364					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACATACCTTTCTTTGAATTGA	0.308									Hermansky-Pudlak syndrome																																								0													156	159	158					5																	77471612		2202	4297	6499	SO:0001589	frameshift_variant	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1091delG	5.37:g.77471612delC	ENSP00000255194:p.Arg364fs		E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.R364fs	ENST00000255194.6	37	c.1091	CCDS4041.1	5																																																																																			AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.308	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	C			77471612	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	77471612	C	-	77471612	7	5	71	1	0	1	0	1	0	0	0	0	744	913	32	0	2265	0	AP3B1	5	77471612	Frame_Shift_Del	DEL	C	TCGA-EA-A3HQ-01A-11D-A20U-09	1890603	77471612	103443648	36	10431										
ATP6AP1L	92270	genome.wustl.edu	37	chr5	81613843	81613843	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ggttttgccatcaaggggggAcgatttaccaaagcccaaga	12	9	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:81613843A>C	ENST00000380167.4	+	10	1724	c.399A>C	c.(397-399)ggA>ggC	p.G133G	ATP6AP1L_ENST00000439350.1_Silent_p.G133G|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	133					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCAAGGGGGGACGATTTACCA	0.552																																																	0													84	76	79					5																	81613843		2203	4300	6503	SO:0001819	synonymous_variant	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.399A>C	5.37:g.81613843A>C				Silent	SNP	NULL	p.G133	ENST00000380167.4	37	c.399	CCDS34196.1	5																																																																																			ATP6AP1L	-	NULL		0.552	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1L	HGNC	protein_coding	OTTHUMT00000369562.3	A	NM_001017971		81613843	1	no_errors	ENST00000380167	ensembl	human	known	70_37	silent	SNP	0.000	C	C	81613843	A	C	81613843	2	2	71	1	0	0	0	0	0	0	0	1	1167	262	10	5		5	ATP6AP1L	5	81613843	Silent	SNP	A	TCGA-EA-A3HQ-01A-11D-A20U-09	4142231	81613843	99301417	37	10432										
ODZ2	57451	genome.wustl.edu	37	chr5	167589659	167589659	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ggtaacgggagatgcacactGggtcagaacagctggcagtg	16	8	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:167589659G>T	ENST00000518659.1	+	13	2505	c.2466G>T	c.(2464-2466)ctG>ctT	p.L822L	TENM2_ENST00000545108.1_Silent_p.L822L|TENM2_ENST00000520394.1_Silent_p.L590L|TENM2_ENST00000519204.1_Silent_p.L701L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.L646L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	822	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGCACACTGGGTCAGAACA	0.577																																																	0													72	71	71					5																	167589659		2065	4207	6272	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2466G>T	5.37:g.167589659G>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L822	ENST00000518659.1	37	c.2466		5																																																																																			TENM2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167589659	1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	1.000	T	T	167589659	G	T	167589659	2	4	71	1	0	0	0	0	0	0	0	1	10859	1335	47	4		4	ODZ2	5	167589659	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	85975816	167589659	13325601	38	10433										
GFPT2	9945	genome.wustl.edu	37	chr5	179751886	179751886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cggactccgatgagcaggggGctgcctctcctgtagggaga	16	11	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr5:179751886G>A	ENST00000253778.8	-	8	775	c.606C>T	c.(604-606)agC>agT	p.S202S	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	202	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGCAGGGGGCTGCCTCTCC	0.527																																																	0													80	85	83					5																	179751886		1951	4151	6102	SO:0001819	synonymous_variant	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.606C>T	5.37:g.179751886G>A			Q53XM2|Q9BWS4	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.S202	ENST00000253778.8	37	c.606	CCDS43411.1	5																																																																																			GFPT2	-	pfam_GATase_dom		0.527	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	G	NM_005110		179751886	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179751886	G	A	179751886	2	1	71	1	0	0	0	0	0	0	0	1	6365	1194	42	4		4	GFPT2	5	179751886	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	12162227	179751886	1163374	39	10434										
CAGE1	285782	genome.wustl.edu	37	chr6	7373452	7373452	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tacttcgttgatttgctgctGaagttttatattcttcgttc	7	7	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:7373452G>A	ENST00000512086.1	-	5	1802	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	CAGE1_ENST00000338150.4_Nonsense_Mutation_p.Q534*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.Q534*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.Q398*|CAGE1_ENST00000502583.1_Nonsense_Mutation_p.Q534*|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	534										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATTTGCTGCTGAAGTTTTATA	0.333																																																	0													133	106	115					6																	7373452		1822	4074	5896	SO:0001587	stop_gained	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1600C>T	6.37:g.7373452G>A	ENSP00000427583:p.Gln534*		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	NULL	p.Q534*	ENST00000512086.1	37	c.1600		6	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549308	0.65311	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	.	.	.	5.38	2.49	0.30216	.	0.353955	0.24396	N	0.038894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.5883	8.7362	0.34530	0.0:0.3131:0.5249:0.162	.	.	.	.	X	534;534;534;398;534;534;534;546	.	ENSP00000296742:Q398X	Q	-	1	0	CAGE1	7318451	0.981000	0.34729	0.245000	0.24217	0.121000	0.20230	1.601000	0.36773	0.208000	0.20626	0.591000	0.81541	CAG	CAGE1	-	NULL		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	G	NM_175745		7373452	-1	no_errors	ENST00000338150	ensembl	human	known	70_37	nonsense	SNP	0.788	A	A	7373452	G	A	7373452	4	1	71	1	0	0	0	0	0	1	0	0	2577	1299	45	1	1065	1	CAGE1	6	7373452	Nonsense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		7373452	163741615	40	10435										
PNPLA1	285848	genome.wustl.edu	37	chr6	36269960	36269960	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tcttcaactccactttctctAagtggcatgccacctgtatc	5	14	3	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:36269960A>T	ENST00000394571.2	+	6	1098	c.1098A>T	c.(1096-1098)ctA>ctT	p.L366L	PNPLA1_ENST00000312917.5_Silent_p.L280L|PNPLA1_ENST00000388715.3_Silent_p.L271L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	366	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CACTTTCTCTAAGTGGCATGC	0.552											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135	128	130					6																	36269960		2203	4300	6503	SO:0001819	synonymous_variant	285848				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1098A>T	6.37:g.36269960A>T		861	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L367	ENST00000394571.2	37	c.1101	CCDS54997.1	6																																																																																			PNPLA1	-	NULL		0.552	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		A	NM_173676		36269960	1	no_errors	ENST00000457797	ensembl	human	known	70_37	silent	SNP	0.005	T	T	36269960	A	T	36269960	2	4	71	1	0	0	0	0	0	0	0	1	12188	349	13	5		5	PNPLA1	6	36269960	Silent	SNP	A	TCGA-EA-A3HQ-01A-11D-A20U-09	28896508	36269960	134845107	41	10436										
GPR115	221393	genome.wustl.edu	37	chr6	47682098	47682098	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tgatgttggatatcaggaacGaagtgaaatgccgctgtaac	12	6	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:47682098G>T	ENST00000283303.2	+	6	1375	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.E373*|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Nonsense_Mutation_p.E430*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TATCAGGAACGAAGTGAAATG	0.473																																					GBM(22;431 510 9010 26644 32828)												0													140	116	124					6																	47682098		2203	4300	6503	SO:0001587	stop_gained	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1117G>T	6.37:g.47682098G>T	ENSP00000283303:p.Glu373*		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.E430*	ENST00000283303.2	37	c.1288	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671820	0.67928	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.26	-0.687	0.11320	.	0.875716	0.10251	N	0.697176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6194	5.7059	0.17909	0.504:0.141:0.355:0.0	.	.	.	.	X	430;373;373	.	ENSP00000283303:E373X	E	+	1	0	GPR115	47790057	0.000000	0.05858	0.004000	0.12327	0.136000	0.21042	1.065000	0.30592	-0.212000	0.10109	-0.290000	0.09829	GAA	GPR115	-	pfam_GPS_dom,pfscan_GPS_dom		0.473	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	G	NM_153838		47682098	1	no_errors	ENST00000371220	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	47682098	G	T	47682098	4	4	71	1	0	0	0	0	0	1	0	0	6651	1059	37	3	1135	3	GPR115	6	47682098	Nonsense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	11412138	47682098	123432969	42	10437										
RSPH4A	345895	genome.wustl.edu	37	chr6	116953401	116953401	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	atttctacataggctggggtCataagtatagtccagacaat	9	7	2	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:116953401C>T	ENST00000229554.5	+	6	2085	c.1948C>T	c.(1948-1950)Cat>Tat	p.H650Y	RSPH4A_ENST00000368580.4_Missense_Mutation_p.H403Y|RSPH4A_ENST00000368581.4_3'UTR	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	650					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCTGGGGTCATAAGTATAG	0.353									Kartagener syndrome																																								0													42	41	42					6																	116953401		2203	4300	6503	SO:0001583	missense	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1948C>T	6.37:g.116953401C>T	ENSP00000229554:p.His650Tyr		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.H650Y	ENST00000229554.5	37	c.1948	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446892	0.63178	.	.	ENSG00000111834	ENST00000229554;ENST00000447842;ENST00000368580	T;T	0.18016	2.24;2.24	5.99	4.22	0.49857	.	0.240515	0.41605	D	0.000846	T	0.14313	0.0346	M	0.76574	2.34	0.80722	D	1	D	0.61080	0.989	P	0.58172	0.834	T	0.40040	-0.9584	10	0.02654	T	1	-6.9219	9.3212	0.37966	0.145:0.78:0.0:0.0751	.	650	Q5TD94	RSH4A_HUMAN	Y	650;445;403	ENSP00000229554:H650Y;ENSP00000357569:H403Y	ENSP00000229554:H650Y	H	+	1	0	RSPH4A	117060094	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.283000	0.51701	0.866000	0.35629	-0.169000	0.13324	CAT	RSPH4A	-	pfam_Radial_spoke		0.353	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	C	NM_001010892		116953401	1	no_errors	ENST00000229554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116953401	C	T	116953401	3	4	71	1	0	0	0	0	1	0	0	0	13736	826	29	1	1970	1	RSPH4A	6	116953401	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	69271303	116953401	54161666	43	10438										
PNLDC1	154197	genome.wustl.edu	37	chr6	160229830	160229830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gccctccccaacatctggacGgtgctgaaagatgagggggt	14	11	1	3			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:160229830G>A	ENST00000610273.1	+	8	759	c.588G>A	c.(586-588)acG>acA	p.T196T	PNLDC1_ENST00000392167.3_Silent_p.T207T	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	196						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACATCTGGACGGTGCTGAAAG	0.562																																																	0													75	68	70					6																	160229830		2203	4300	6503	SO:0001819	synonymous_variant	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.588G>A	6.37:g.160229830G>A			Q5TAP7|Q8N7X5	Silent	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.T196	ENST00000610273.1	37	c.588	CCDS5271.1	6																																																																																			PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.562	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		G	NM_173516		160229830	1	no_errors	ENST00000275275	ensembl	human	known	70_37	silent	SNP	0.000	A	A	160229830	G	A	160229830	2	1	71	1	0	0	0	0	0	0	0	1	12172	1103	39	2		2	PNLDC1	6	160229830	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	43276429	160229830	10885237	44	10439										
IGF2R	3482	genome.wustl.edu	37	chr6	160485837	160485837	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tgcctcttaacttttttagcCagtatttctaaaggagactt	6	8	2	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr6:160485837C>T	ENST00000356956.1	+	29	4167	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1340					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTTTTTTAGCCAGTATTTCTA	0.348																																																	0													115	104	108					6																	160485837		2203	4300	6503	SO:0001630	splice_region_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4018-1C>T	6.37:g.160485837C>T			Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.P1340L	ENST00000356956.1	37	c.4019	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870104	0.72065	.	.	ENSG00000197081	ENST00000356956	T	0.02974	4.09	5.19	5.19	0.71726	Mannose-6-phosphate receptor, binding (1);	0.057353	0.64402	N	0.000001	T	0.10380	0.0254	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39941	-0.9589	10	0.12430	T	0.62	-7.043	18.7434	0.91782	0.0:1.0:0.0:0.0	.	1340	P11717	MPRI_HUMAN	L	1340	ENSP00000349437:P1340L	ENSP00000349437:P1340L	P	+	2	0	IGF2R	160405827	1.000000	0.71417	0.617000	0.29091	0.277000	0.26821	7.283000	0.78640	2.430000	0.82344	0.655000	0.94253	CCA	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.348	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	C	NM_000876	Missense_Mutation	160485837	1	no_errors	ENST00000356956	ensembl	human	known	70_37	missense	SNP	0.641	T	T	160485837	C	T	160485837	5	4	71	1	0	0	0	0	0	0	1	0	7596	608	21	4	4133	4	IGF2R	6	160485837	Splice_Site	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	256007	160485837	10629230	45	10440										
INTS1	26173	genome.wustl.edu	37	chr7	1535823	1535823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cctttgtcccaggcgatgccGgcctccttcacctgcgctgt	10	17	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr7:1535823G>A	ENST00000404767.3	-	12	1765	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	INTS1_ENST00000389470.4_Silent_p.A688A	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	560					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGATGCCGGCCTCCTTCA	0.657																																																	0													80	95	90					7																	1535823		2105	4216	6321	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1680C>T	7.37:g.1535823G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A688	ENST00000404767.3	37	c.2064	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1535823	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.008	A	A	1535823	G	A	1535823	2	1	71	1	0	0	0	0	0	0	0	1	7795	1103	39	2		2	INTS1	7	1535823	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		1535823	157602840	46	10441										
TEX15	56154	genome.wustl.edu	37	chr8	30695415	30695415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gttaagtctattttgctttcCgactttgatgcgcaagtgtc	9	8	1	1	rs371955113		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr8:30695415C>T	ENST00000256246.2	-	3	7310	c.7236G>A	c.(7234-7236)tcG>tcA	p.S2412S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2412					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTGCTTTCCGACTTTGATG	0.373																																																	0								C		0,4406		0,0,2203	227	226	226		7236	1	0	8		226	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TEX15	NM_031271.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2412/2790	30695415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7236G>A	8.37:g.30695415C>T				Silent	SNP	NULL	p.S2412	ENST00000256246.2	37	c.7236	CCDS6080.1	8																																																																																			TEX15	-	NULL		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30695415	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	silent	SNP	0.015	T	T	30695415	C	T	30695415	2	4	71	1	0	0	0	0	0	0	0	1	15809	639	23	2		2	TEX15	8	30695415	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		30695415	115668607	47	10442										
PRDM14	63978	genome.wustl.edu	37	chr8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gggcagcatgggatgcaaaaGatttaccacagtacttgcat	11	8	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517																																					NSCLC(129;99 1813 5906 40656 46114)												0													160	149	153					8																	70964454		2203	4300	6503	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1574C>G	8.37:g.70964454G>C	ENSP00000276594:p.Ser525Cys		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S525C	ENST00000276594.2	37	c.1574	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024658	0.54683	.	.	ENSG00000147596	ENST00000276594	T	0.19806	2.12	5.95	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.125057	0.52532	D	0.000077	T	0.23210	0.0561	L	0.43152	1.355	0.37337	D	0.910236	B	0.18461	0.028	B	0.19666	0.026	T	0.07046	-1.0793	10	0.66056	D	0.02	-10.3171	17.3411	0.87296	0.0:0.1249:0.8751:0.0	.	525	Q9GZV8	PRD14_HUMAN	C	525	ENSP00000276594:S525C	ENSP00000276594:S525C	S	-	2	0	PRDM14	71127008	1.000000	0.71417	0.443000	0.26883	0.953000	0.61014	6.247000	0.72411	1.515000	0.48885	0.563000	0.77884	TCT	PRDM14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	G			70964454	-1	no_errors	ENST00000276594	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70964454	G	C	70964454	3	2	71	1	0	0	0	0	1	0	0	0	12482	942	33	1	145	1	PRDM14	8	70964454	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	40269039	70964454	75399568	48	10443										
RSPO2	340419	genome.wustl.edu	37	chr8	109094785	109094785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ggacccacctcgcttactgcGtctccatcggttgccttggc	10	16	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr8:109094785G>A	ENST00000276659.5	-	2	702	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	RSPO2_ENST00000517939.1_5'Flank|RSPO2_ENST00000378439.2_Missense_Mutation_p.R28C|RSPO2_ENST00000517781.1_Missense_Mutation_p.R28C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	28					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.R28C(3)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CGCTTACTGCGTCTCCATCGG	0.627																																																	3	Substitution - Missense(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											111	95	100					8																	109094785		2203	4300	6503	SO:0001583	missense	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.82C>T	8.37:g.109094785G>A	ENSP00000276659:p.Arg28Cys		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R28C	ENST00000276659.5	37	c.82	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468646	0.63625	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;T;T;T	0.79247	1.55;1.55;-1.25;-1.25;-1.25	5.57	5.57	0.84162	Growth factor, receptor (1);	0.333064	0.26586	N	0.023556	D	0.86752	0.6008	L	0.60455	1.87	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.87128	0.2195	10	0.66056	D	0.02	-9.5123	19.1489	0.93479	0.0:0.0:1.0:0.0	.	28;28	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	C	28	ENSP00000427937:R28C;ENSP00000367698:R28C;ENSP00000276659:R28C;ENSP00000430010:R28C;ENSP00000430973:R28C	ENSP00000276659:R28C	R	-	1	0	RSPO2	109163961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.099000	0.71466	2.622000	0.88805	0.591000	0.81541	CGC	RSPO2	-	superfamily_Growth_fac_rcpt		0.627	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	G	NM_178565		109094785	-1	no_errors	ENST00000276659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109094785	G	A	109094785	3	1	71	1	0	0	0	0	1	0	0	0	13740	1145	40	2	669	2	RSPO2	8	109094785	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	38130331	109094785	37269237	49	10444										
COL27A1	85301	genome.wustl.edu	37	chr9	117002739	117002739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gcctggagcccgaggcctgcCgggaccccgtgggcagctgg	18	15	0	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:117002739C>T	ENST00000356083.3	+	21	3198	c.2807C>T	c.(2806-2808)cCg>cTg	p.P936L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	936	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGAGGCCTGCCGGGACCCCGT	0.672																																																	0													74	84	81					9																	117002739		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2807C>T	9.37:g.117002739C>T	ENSP00000348385:p.Pro936Leu		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P936L	ENST00000356083.3	37	c.2807	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870594	0.72065	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96136	-3.92	5.91	5.91	0.95273	.	.	.	.	.	D	0.97698	0.9245	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97680	1.0172	9	0.54805	T	0.06	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	936	Q8IZC6	CORA1_HUMAN	L	936	ENSP00000348385:P936L	ENSP00000348385:P936L	P	+	2	0	COL27A1	116042560	0.993000	0.37304	0.994000	0.49952	0.995000	0.86356	3.357000	0.52277	2.793000	0.96121	0.655000	0.94253	CCG	COL27A1	-	pfam_Collagen		0.672	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		117002739	1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	0.997	T	T	117002739	C	T	117002739	3	4	71	1	0	0	0	0	1	0	0	0	3690	652	23	2	2889	2	COL27A1	9	117002739	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		117002739	24210692	50	10445										
VAV2	7410	genome.wustl.edu	37	chr9	136652376	136652376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctaggtgcttaccattttccCgtgagactaggaagcatgga	11	9	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:136652376C>T	ENST00000371850.3	-	16	1445	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	VAV2_ENST00000371851.1_Intron|VAV2_ENST00000406606.3_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	472	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACCATTTTCCCGTGAGACTAG	0.647																																																	0													91	85	87					9																	136652376		1568	3582	5150	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1414G>A	9.37:g.136652376C>T	ENSP00000360916:p.Gly472Arg		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.G472R	ENST00000371850.3	37	c.1414	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567531	0.65651	.	.	ENSG00000160293	ENST00000371850	D	0.88586	-2.4	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.89626	0.6769	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87191	0.2234	9	0.18710	T	0.47	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	472	P52735	VAV2_HUMAN	R	472	ENSP00000360916:G472R	ENSP00000360916:G472R	G	-	1	0	VAV2	135642197	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.080000	0.71299	2.007000	0.58848	0.491000	0.48974	GGG	VAV2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.647	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	C			136652376	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136652376	C	T	136652376	3	4	71	1	0	0	0	0	1	0	0	0	17163	652	23	2	1282	2	VAV2	9	136652376	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	19649637	136652376	4561055	51	10446										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138742205	138742205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	catacagcatatcttccaagGtgagataaaaacatttatta	5	7	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr9:138742205G>T	ENST00000389532.4	-	6	975	c.911C>A	c.(910-912)aCc>aAc	p.T304N	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315N|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	304	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATCTTCCAAGGTGAGATAAAA	0.353																																																	0													75	83	80					9																	138742205		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.911C>A	9.37:g.138742205G>T	ENSP00000374183:p.Thr304Asn		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T315N	ENST00000389532.4	37	c.944	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	33	5.232968	0.95207	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95412	-3.7;-3.7;2.33	5.57	5.57	0.84162	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (2);	0.143971	0.64402	D	0.000007	D	0.97281	0.9111	M	0.64404	1.975	0.80722	D	1	D;D	0.71674	0.998;0.976	D;P	0.70487	0.969;0.742	D	0.97561	1.0098	10	0.87932	D	0	-8.2914	19.9146	0.97053	0.0:0.0:1.0:0.0	.	304;315	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	304;26;315	ENSP00000374183:T304N;ENSP00000312463:T26N;ENSP00000386420:T315N	ENSP00000312463:T26N	T	-	2	0	CAMSAP1	137882026	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.164000	0.94755	2.775000	0.95449	0.655000	0.94253	ACC	CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain		0.353	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138742205	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138742205	G	T	138742205	3	4	71	1	0	0	0	0	1	0	0	0	2616	1261	44	4	3945	4	CAMSAP1	9	138742205	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	2089829	138742205	2471226	52	10447										
AKR1C4	1109	genome.wustl.edu	37	chr10	5248280	5248280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	caggattggccaagtccatcGgggtgtcaaacttcaactgc	11	11	2	0	rs374502554		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:5248280G>A	ENST00000380448.1	+	7	743	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	AKR1C4_ENST00000263126.1_Missense_Mutation_p.G164R			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	164					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CAAGTCCATCGGGGTGTCAAA	0.507																																																	0								G	ARG/GLY	0,4406		0,0,2203	168	146	154		490	3.2	1	10		154	3,8597	3.0+/-9.4	0,3,4297	no	missense	AKR1C4	NM_001818.3	125	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	164/324	5248280	3,13003	2203	4300	6503	SO:0001583	missense	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.490G>A	10.37:g.5248280G>A	ENSP00000369814:p.Gly164Arg		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G164R	ENST00000380448.1	37	c.490	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756387	0.49362	0.0	3.49E-4	ENSG00000198610	ENST00000380448;ENST00000263126	D;D	0.90197	-2.63;-2.63	3.16	3.16	0.36331	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000006	D	0.96479	0.8851	H	0.97758	4.07	0.53005	D	0.999964	D	0.67145	0.996	D	0.67382	0.951	D	0.96990	0.9721	10	0.72032	D	0.01	.	12.072	0.53622	0.0:0.0:1.0:0.0	.	164	P17516	AK1C4_HUMAN	R	164	ENSP00000369814:G164R;ENSP00000263126:G164R	ENSP00000263126:G164R	G	+	1	0	AKR1C4	5238280	1.000000	0.71417	0.978000	0.43139	0.140000	0.21249	7.958000	0.87877	1.459000	0.47892	0.313000	0.20887	GGG	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.507	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	G	NM_001818		5248280	1	no_errors	ENST00000263126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5248280	G	A	5248280	3	1	71	1	0	0	0	0	1	0	0	0	472	1116	39	2	508	2	AKR1C4	10	5248280	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		5248280	130286467	53	10448										
CHAT	1103	genome.wustl.edu	37	chr10	50854596	50854596	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	catgattgagcgctgcatctGccttgtatgcctggacgcgc	12	12	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:50854596G>T	ENST00000337653.2	+	8	1310	c.1157G>T	c.(1156-1158)tGc>tTc	p.C386F	CHAT_ENST00000339797.1_Missense_Mutation_p.C268F|CHAT_ENST00000395559.2_Missense_Mutation_p.C268F|CHAT_ENST00000395562.2_Missense_Mutation_p.C304F|CHAT_ENST00000351556.3_Missense_Mutation_p.C268F|CHAT_ENST00000455728.2_Missense_Mutation_p.C268F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	386					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CGCTGCATCTGCCTTGTATGC	0.647																																																	0													105	97	100					10																	50854596		2203	4300	6503	SO:0001583	missense	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1157G>T	10.37:g.50854596G>T	ENSP00000337103:p.Cys386Phe		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.C386F	ENST00000337653.2	37	c.1157	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	8.410	0.843956	0.16963	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	N	0.01482	-0.84	0.80722	D	1	B;B	0.19200	0.016;0.034	B;B	0.27796	0.018;0.083	T	0.66276	-0.5964	10	0.02654	T	1	-21.9084	18.4964	0.90866	0.0:0.0:1.0:0.0	.	268;386	F8W8I2;P28329	.;CLAT_HUMAN	F	268;268;268;386;304;268	ENSP00000343486:C268F;ENSP00000345878:C268F;ENSP00000378926:C268F;ENSP00000337103:C386F;ENSP00000378929:C304F;ENSP00000390521:C268F	ENSP00000337103:C386F	C	+	2	0	CHAT	50524602	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.842000	0.86851	2.360000	0.80028	0.609000	0.83330	TGC	CHAT	-	pfam_Carn_acyl_trans		0.647	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	G	NM_020549		50854596	1	no_errors	ENST00000337653	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50854596	G	T	50854596	3	4	71	1	0	0	0	0	1	0	0	0	3318	1319	46	4	1231	4	CHAT	10	50854596	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	45606316	50854596	84680151	54	10449										
AFAP1L2	84632	genome.wustl.edu	37	chr10	116060344	116060344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctgggcctgtgcactgctggGgccatgcagaaaggacttga	15	10	0	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr10:116060344G>A	ENST00000304129.4	-	14	1677	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.P550S|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P603S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	550					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCACTGCTGGGGCCATGCAGA	0.617																																																	0													103	94	97					10																	116060344		2203	4300	6503	SO:0001583	missense	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1648C>T	10.37:g.116060344G>A	ENSP00000303042:p.Pro550Ser		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P603S	ENST00000304129.4	37	c.1807	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023350	0.07634	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.13307	2.61;2.61;2.6	5.76	-10.1	0.00402	.	1.180970	0.05723	N	0.598107	T	0.02304	0.0071	N	0.01188	-0.97	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.003;0.0;0.001;0.0	B;B;B;B;B;B;B	0.12156	0.005;0.007;0.002;0.004;0.003;0.001;0.0	T	0.24870	-1.0148	10	0.05351	T	0.99	-0.408	1.1412	0.01766	0.3607:0.2905:0.1227:0.2261	.	603;116;604;72;578;550;550	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	S	550;550;577;603	ENSP00000358276:P550S;ENSP00000303042:P550S;ENSP00000444511:P603S	ENSP00000303042:P550S	P	-	1	0	AFAP1L2	116050334	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.547000	0.02186	-2.201000	0.00746	0.655000	0.94253	CCC	AFAP1L2	-	NULL		0.617	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	G	NM_032550		116060344	-1	no_errors	ENST00000545353	ensembl	human	known	70_37	missense	SNP	0.000	A	A	116060344	G	A	116060344	3	1	71	1	0	0	0	0	1	0	0	0	355	1232	43	4	832	4	AFAP1L2	10	116060344	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	65205748	116060344	19474403	55	10450										
SYT7	9066	genome.wustl.edu	37	chr11	61291299	61291299	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctgctggagaagccccgtacCtgatgtgcccccgatgtcca	11	15	0	2	rs567302490		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:61291299C>A	ENST00000263846.4	-	7	1234	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	SYT7_ENST00000540677.1_Splice_Site_p.D378Y|SYT7_ENST00000539008.1_Splice_Site_p.D586Y|SYT7_ENST00000542670.1_Splice_Site_p.D511Y|SYT7_ENST00000535826.1_Splice_Site_p.D422Y|SYT7_ENST00000542836.1_Splice_Site_p.D347Y|SYT7_ENST00000540831.1_5'Flank	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCCCGTACCTGATGTGCCC	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		17118	0		0	False		,,,				2504	0																0													264	253	257					11																	61291299		2202	4299	6501	SO:0001630	splice_region_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.907+1G>T	11.37:g.61291299C>A			F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D303Y	ENST00000263846.4	37	c.907	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355550	0.82243	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.48	4.48	0.54585	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96390	0.9288	9	.	.	.	.	17.5306	0.87813	0.0:1.0:0.0:0.0	.	378;303	F5GZU9;O43581	.;SYT7_HUMAN	Y	303;378;586;347;511;422	ENSP00000263846:D303Y;ENSP00000444201:D378Y;ENSP00000439694:D586Y;ENSP00000444568:D347Y;ENSP00000444019:D511Y;ENSP00000437720:D422Y	.	D	-	1	0	SYT7	61047875	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.760000	0.85248	2.192000	0.70111	0.462000	0.41574	GAC	SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.592	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	C	NM_004200	Missense_Mutation	61291299	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61291299	C	A	61291299	5	1	71	1	0	0	0	0	0	0	1	0	15509	695	24	4	316	4	SYT7	11	61291299	Splice_Site	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		61291299	73715217	56	10451										
SIPA1	6494	genome.wustl.edu	37	chr11	65409844	65409844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ccgcgtcatcgtgcggaccaCgcaggtgggccgggatcgcg	17	14	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:65409844C>T	ENST00000394224.3	+	3	1099	c.803C>T	c.(802-804)aCg>aTg	p.T268M	SIPA1_ENST00000534313.1_Missense_Mutation_p.T268M|SIPA1_ENST00000394227.3_Missense_Mutation_p.T268M|SIPA1_ENST00000527525.1_Missense_Mutation_p.T268M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	268					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGCGGACCACGCAGGTGGGC	0.682																																																	0													23	24	24					11																	65409844		2193	4294	6487	SO:0001583	missense	6494			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.803C>T	11.37:g.65409844C>T	ENSP00000377771:p.Thr268Met		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.T268M	ENST00000394224.3	37	c.803	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636423	0.67130	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82711	-1.64;-1.63;-1.64;-1.63	4.66	4.66	0.58398	.	0.095949	0.38111	U	0.001812	D	0.85035	0.5605	L	0.38175	1.15	0.38426	D	0.946308	D;D	0.76494	0.999;0.998	P;P	0.62382	0.901;0.799	D	0.87674	0.2543	10	0.87932	D	0	-16.1066	13.4211	0.60998	0.0:1.0:0.0:0.0	.	268;268	F6RY50;Q96FS4	.;SIPA1_HUMAN	M	268	ENSP00000436269:T268M;ENSP00000433686:T268M;ENSP00000377771:T268M;ENSP00000377774:T268M	ENSP00000377771:T268M	T	+	2	0	SIPA1	65166420	0.950000	0.32346	1.000000	0.80357	0.836000	0.47400	1.644000	0.37228	2.328000	0.79073	0.455000	0.32223	ACG	SIPA1	-	NULL		0.682	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	C	NM_006747		65409844	1	no_errors	ENST00000394224	ensembl	human	known	70_37	missense	SNP	0.855	T	T	65409844	C	T	65409844	3	4	71	1	0	0	0	0	1	0	0	0	14358	536	19	2	809	2	SIPA1	11	65409844	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	4118545	65409844	69596672	57	10452										
LRP5	4041	genome.wustl.edu	37	chr11	68197163	68197163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cctgcagaacctgctgacctGtggaggtaggtgtgacctag	14	10	0	3			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:68197163G>A	ENST00000294304.7	+	17	3864	c.3758G>A	c.(3757-3759)tGt>tAt	p.C1253Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1253	EGF-like 4.		C -> F (in EVR4). {ECO:0000269|PubMed:20340138}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTGACCTGTGGAGGTAGG	0.562																																																	0													127	94	105					11																	68197163		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3758G>A	11.37:g.68197163G>A	ENSP00000294304:p.Cys1253Tyr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C1253Y	ENST00000294304.7	37	c.3758	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421843	0.83559	.	.	ENSG00000162337	ENST00000294304	D	0.99953	-8.81	4.96	4.96	0.65561	Epidermal growth factor-like (1);	0.000000	0.53938	U	0.000049	D	0.99967	0.9988	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96658	0.9487	10	0.87932	D	0	.	18.47	0.90769	0.0:0.0:1.0:0.0	.	1253;1253	Q9UES7;O75197	.;LRP5_HUMAN	Y	1253	ENSP00000294304:C1253Y	ENSP00000294304:C1253Y	C	+	2	0	LRP5	67953739	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.145000	0.94634	2.606000	0.88127	0.543000	0.68304	TGT	LRP5	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.562	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68197163	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68197163	G	A	68197163	3	1	71	1	0	0	0	0	1	0	0	0	8983	1377	48	4	3824	4	LRP5	11	68197163	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	2787319	68197163	66809353	58	10453										
DSCAML1	57453	genome.wustl.edu	37	chr11	117329618	117329618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gtggtgatgttctgcatctcGccccactctgccagagacca	10	14	3	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr11:117329618G>A	ENST00000321322.6	-	19	3601	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	DSCAML1_ENST00000527706.1_Silent_p.G930G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1140	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTGCATCTCGCCCCACTCTG	0.647																																																	0													94	87	90					11																	117329618		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3600C>T	11.37:g.117329618G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1200	ENST00000321322.6	37	c.3600	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117329618	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	silent	SNP	0.902	A	A	117329618	G	A	117329618	2	1	71	1	0	0	0	0	0	0	0	1	4779	1074	38	2		2	DSCAML1	11	117329618	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	49132455	117329618	17676898	59	10454										
PRB4	5545	genome.wustl.edu	37	chr12	11461645	11461645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ttcctggatgaggtgggggaCcttgggactggttgcctcct	16	9	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:11461645C>A	ENST00000535904.1	-	3	305	c.272G>T	c.(271-273)gGt>gTt	p.G91V	PRB4_ENST00000445719.2_Missense_Mutation_p.G91V|PRB4_ENST00000279575.1_Missense_Mutation_p.G91V			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	112	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						AGGTGGGGGACCTTGGGACTG	0.607										HNSCC(22;0.051)																																							0													315	338	330					12																	11461645		2203	4300	6503	SO:0001583	missense	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.272G>T	12.37:g.11461645C>A	ENSP00000442834:p.Gly91Val		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.G91V	ENST00000535904.1	37	c.272	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	4.154	0.026926	0.08054	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04119	3.7;3.7;3.97	0.687	-1.37	0.09056	.	.	.	.	.	T	0.05593	0.0147	M	0.72118	2.19	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.33369	-0.9871	8	0.52906	T	0.07	.	.	.	.	.	91	E9PAL0	.	V	91	ENSP00000279575:G91V;ENSP00000442834:G91V;ENSP00000412740:G91V	ENSP00000279575:G91V	G	-	2	0	PRB4	11352912	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.654000	0.05354	-1.108000	0.03000	0.205000	0.17691	GGT	PRB4	-	NULL		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	C	NM_002723		11461645	-1	no_errors	ENST00000279575	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11461645	C	A	11461645	3	1	71	1	0	0	0	0	1	0	0	0	12472	507	18	4	475	4	PRB4	12	11461645	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		11461645	122390250	60	10455										
MLL2	8085	genome.wustl.edu	37	chr12	49434580	49434580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	caggggggctttgaagacatCaggtgtctttaactccaggc	13	9	2	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:49434580C>T	ENST00000301067.7	-	31	6972	c.6973G>A	c.(6973-6975)Gat>Aat	p.D2325N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2325	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGAAGACATCAGGTGTCTTT	0.637																																																	0													22	24	23					12																	49434580		1843	4089	5932	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6973G>A	12.37:g.49434580C>T	ENSP00000301067:p.Asp2325Asn		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D2325N	ENST00000301067.7	37	c.6973	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348857	0.24426	.	.	ENSG00000167548	ENST00000301067	T	0.80566	-1.39	5.07	5.07	0.68467	.	0.000000	0.39834	N	0.001253	T	0.66376	0.2783	N	0.22421	0.69	0.26991	N	0.96514	B	0.33549	0.417	B	0.24269	0.052	T	0.66221	-0.5978	10	0.87932	D	0	.	11.8578	0.52449	0.0:0.9144:0.0:0.0856	.	2325	O14686	MLL2_HUMAN	N	2325	ENSP00000301067:D2325N	ENSP00000301067:D2325N	D	-	1	0	MLL2	47720847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.729000	0.47327	2.536000	0.85505	0.655000	0.94253	GAT	MLL2	-	NULL		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49434580	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.998	T	T	49434580	C	T	49434580	3	4	71	1	0	0	0	0	1	0	0	0	9644	826	29	1	9736	1	MLL2	12	49434580	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	37972935	49434580	84417315	61	10456										
CALCOCO1	57658	genome.wustl.edu	37	chr12	54115347	54115347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ccacatggtctccctgttgcCggctcaggatgtccctctct	9	16	3	0	rs371310406		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:54115347C>T	ENST00000550804.1	-	6	722	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R188Q|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.R221Q|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R221Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	221					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCCTGTTGCCGGCTCAGGAT	0.542																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	363	330	341		563,662	2.7	1	12		341	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CALCOCO1	NM_001143682.1,NM_020898.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	188/607,221/692	54115347	1,13005	2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.662G>A	12.37:g.54115347C>T	ENSP00000449960:p.Arg221Gln		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.R221Q	ENST00000550804.1	37	c.662	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488960	0.26686	0.0	1.16E-4	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.0	2.68	0.31781	.	0.199026	0.25307	N	0.031620	T	0.55609	0.1931	N	0.03000	-0.44	0.24098	N	0.995887	B;B;B;B;B;B	0.13145	0.007;0.001;0.001;0.003;0.001;0.002	B;B;B;B;B;B	0.10450	0.001;0.004;0.001;0.005;0.005;0.001	T	0.39722	-0.9600	10	0.18276	T	0.48	-13.5085	3.2759	0.06898	0.1941:0.5416:0.0:0.2643	.	214;188;221;221;188;221	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	Q	188;221;159;221;221;214;98	ENSP00000397189:R188Q;ENSP00000262059:R221Q;ENSP00000447647:R221Q;ENSP00000449960:R221Q	ENSP00000262059:R221Q	R	-	2	0	CALCOCO1	52401614	0.008000	0.16893	0.998000	0.56505	0.994000	0.84299	-0.405000	0.07196	0.887000	0.36136	0.563000	0.77884	CGG	CALCOCO1	-	pfam_CoCoA		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54115347	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	missense	SNP	0.934	T	T	54115347	C	T	54115347	3	4	71	1	0	0	0	0	1	0	0	0	2582	652	23	2	1453	2	CALCOCO1	12	54115347	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	4680767	54115347	79736548	62	10457										
TRPV4	59341	genome.wustl.edu	37	chr12	110238497	110238497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gggcgtggacatcagctcccTgggccacgagaagttccacg	14	13	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr12:110238497T>C	ENST00000418703.2	-	4	873	c.779A>G	c.(778-780)cAg>cGg	p.Q260R	TRPV4_ENST00000261740.2_Missense_Mutation_p.Q260R|TRPV4_ENST00000537083.1_Missense_Mutation_p.Q260R|TRPV4_ENST00000536838.1_Missense_Mutation_p.Q226R|TRPV4_ENST00000346520.2_Missense_Mutation_p.Q260R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	260					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATCAGCTCCCTGGGCCACGAG	0.642																																																	0													82	65	71					12																	110238497		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.779A>G	12.37:g.110238497T>C	ENSP00000406191:p.Gln260Arg		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.Q260R	ENST00000418703.2	37	c.779	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689060	0.29962	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	4.92	3.68	0.42216	Ankyrin repeat-containing domain (3);	0.288824	0.36893	N	0.002360	T	0.31136	0.0787	N	0.01771	-0.73	0.25367	N	0.988739	B;B;B	0.34399	0.452;0.061;0.017	B;B;B	0.29862	0.108;0.062;0.038	T	0.32929	-0.9888	10	0.06757	T	0.87	-16.8454	9.8171	0.40860	0.1535:0.0:0.0:0.8465	.	260;260;226	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	R	260;260;260;260;226	ENSP00000406191:Q260R;ENSP00000261740:Q260R;ENSP00000319003:Q260R;ENSP00000442738:Q260R;ENSP00000444336:Q226R	ENSP00000261740:Q260R	Q	-	2	0	TRPV4	108722880	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	3.218000	0.51192	1.981000	0.57761	0.533000	0.62120	CAG	TRPV4	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	T	NM_021625		110238497	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110238497	T	C	110238497	3	2	71	1	0	0	0	0	1	0	0	0	16629	1580	55	5	1884	5	TRPV4	12	110238497	Missense_Mutation	SNP	T	TCGA-EA-A3HQ-01A-11D-A20U-09	56123150	110238497	23613398	63	10458										
POSTN	10631	genome.wustl.edu	37	chr13	38145528	38145528	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ccatggatcacttcagttatTgtttcaccttctttaatcag	5	10	5	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:38145528T>C	ENST00000379747.4	-	18	2274	c.2157A>G	c.(2155-2157)acA>acG	p.T719T	POSTN_ENST00000379749.4_Silent_p.T719T|POSTN_ENST00000379743.4_Silent_p.T692T|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Silent_p.T692T|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	719					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCAGTTATTGTTTCACCTT	0.378																																																	0													222	188	200					13																	38145528		2203	4299	6502	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2157A>G	13.37:g.38145528T>C			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.T719	ENST00000379747.4	37	c.2157	CCDS9364.1	13																																																																																			POSTN	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2		0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	T	NM_006475		38145528	-1	no_errors	ENST00000379747	ensembl	human	known	70_37	silent	SNP	0.002	C	C	38145528	T	C	38145528	2	2	71	1	0	0	0	0	0	0	0	1	12283	1799	63	5		5	POSTN	13	38145528	Silent	SNP	T	TCGA-EA-A3HQ-01A-11D-A20U-09		38145528	77024350	64	10459										
RB1	5925	genome.wustl.edu	37	chr13	48955382	48955382	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	acttttttttttcatttttaGgaagtacatctcagaatctt	4	6	3	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:48955382G>C	ENST00000267163.4	+	17	1636		c.e17-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCATTTTTAGGAAGTACATC	0.294		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(13)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CS011568|CS941539	RB1	S							24	24	24					13																	48955382		2200	4296	6496	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1499-1G>C	13.37:g.48955382G>C			A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	-	e17-1	ENST00000267163.4	37	c.1499-1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793363	0.70452	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3532	0.60613	0.0761:0.0:0.9239:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47853383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.424000	0.73366	2.488000	0.83962	0.650000	0.86243	.	RB1	-	-		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G		Intron	48955382	1	no_errors	ENST00000267163	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	48955382	G	C	48955382	5	2	71	1	0	0	0	0	0	0	1	0	13128	1014	35	4	1564	4	RB1	13	48955382	Splice_Site	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	10809854	48955382	66214496	65	10460										
PCDH9	5101	genome.wustl.edu	37	chr13	66879055	66879055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	atttggggtgttgatatggaCccaagccaggaggcatccag	14	8	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr13:66879055C>T	ENST00000377865.2	-	4	3580	c.3446G>A	c.(3445-3447)gGt>gAt	p.G1149D	PCDH9_ENST00000544246.1_Missense_Mutation_p.G1149D|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1115D|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1115D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1149					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGATATGGACCCAAGCCAGG	0.517																																																	0													128	110	116					13																	66879055		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3446G>A	13.37:g.66879055C>T	ENSP00000367096:p.Gly1149Asp		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1149D	ENST00000377865.2	37	c.3446	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950604	0.53186	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54866	0.6;0.6;0.55;0.55	6.05	6.05	0.98169	.	0.129696	0.35708	N	0.003021	T	0.42200	0.1192	N	0.14661	0.345	0.43279	D	0.995248	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.25187	-1.0139	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1107;1115;1149	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	D	1149;1149;1115;1115	ENSP00000442186:G1149D;ENSP00000367096:G1149D;ENSP00000401699:G1115D;ENSP00000332060:G1115D	ENSP00000332060:G1115D	G	-	2	0	PCDH9	65777056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.594000	0.67557	2.878000	0.98634	0.650000	0.86243	GGT	PCDH9	-	NULL		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	C	NM_203487		66879055	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66879055	C	T	66879055	3	4	71	1	0	0	0	0	1	0	0	0	11542	507	18	4	271	4	PCDH9	13	66879055	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	17923673	66879055	48290823	66	10461										
KLHDC1	122773	genome.wustl.edu	37	chr14	50218437	50218437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctaatcaccgagaagaacaaAgagtccaaaaagaagaaaca	7	8	1	5			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr14:50218437A>G	ENST00000359332.2	+	13	1258	c.1168A>G	c.(1168-1170)Aga>Gga	p.R390G		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	390						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGAAGAACAAAGAGTCCAAAA	0.294																																																	0													52	54	53					14																	50218437		2203	4299	6502	SO:0001583	missense	122773			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1168A>G	14.37:g.50218437A>G	ENSP00000352282:p.Arg390Gly		B3KXD9|Q8WYI1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller	p.R390G	ENST00000359332.2	37	c.1168	CCDS9692.1	14	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473155	0.43942	.	.	ENSG00000197776	ENST00000359332	T	0.12672	2.66	5.53	4.38	0.52667	.	0.325878	0.27856	N	0.017566	T	0.10637	0.0260	L	0.36672	1.1	0.28522	N	0.913012	B	0.30482	0.281	B	0.19391	0.025	T	0.11567	-1.0582	10	0.72032	D	0.01	-10.4499	9.4863	0.38931	0.9156:0.0:0.0843:0.0	.	390	Q8N7A1	KLDC1_HUMAN	G	390	ENSP00000352282:R390G	ENSP00000352282:R390G	R	+	1	2	KLHDC1	49288187	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.475000	0.45162	0.917000	0.36895	0.383000	0.25322	AGA	KLHDC1	-	NULL		0.294	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC1	HGNC	protein_coding	OTTHUMT00000276882.2	A	NM_172193		50218437	1	no_errors	ENST00000359332	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50218437	A	G	50218437	3	3	71	1	0	0	0	0	1	0	0	0	8374	64	3	5	1218	5	KLHDC1	14	50218437	Missense_Mutation	SNP	A	TCGA-EA-A3HQ-01A-11D-A20U-09		50218437	57131103	67	10462										
PELI2	57161	genome.wustl.edu	37	chr14	56746461	56746461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gaatcagactgtggtggtggAgtacacacatgataaggata	13	5	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr14:56746461A>G	ENST00000267460.4	+	3	561	c.275A>G	c.(274-276)gAg>gGg	p.E92G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	92	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GTGGTGGTGGAGTACACACAT	0.299																																																	0													149	148	148					14																	56746461		2203	4300	6503	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.275A>G	14.37:g.56746461A>G	ENSP00000267460:p.Glu92Gly		B2RDY5	Missense_Mutation	SNP	pfam_Pellino	p.E92G	ENST00000267460.4	37	c.275	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564916	0.65651	.	.	ENSG00000139946	ENST00000267460	T	0.53857	0.6	4.84	4.84	0.62591	.	0.154856	0.56097	D	0.000026	T	0.68430	0.3000	M	0.69248	2.105	0.80722	D	1	D	0.59767	0.986	D	0.64144	0.922	T	0.72843	-0.4170	10	0.87932	D	0	-33.3448	14.8878	0.70584	1.0:0.0:0.0:0.0	.	92	Q9HAT8	PELI2_HUMAN	G	92	ENSP00000267460:E92G	ENSP00000267460:E92G	E	+	2	0	PELI2	55816214	1.000000	0.71417	0.905000	0.35620	0.908000	0.53690	9.087000	0.94110	2.159000	0.67721	0.455000	0.32223	GAG	PELI2	-	pfam_Pellino		0.299	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	A			56746461	1	no_errors	ENST00000267460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56746461	A	G	56746461	3	3	71	1	0	0	0	0	1	0	0	0	11746	304	11	5	285	5	PELI2	14	56746461	Missense_Mutation	SNP	A	TCGA-EA-A3HQ-01A-11D-A20U-09	6528024	56746461	50603079	68	10463										
RYR3	6263	genome.wustl.edu	37	chr15	34130203	34130203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tttctgaacacatgccaaacGattcccgcctgaagtgtctg	8	12	2	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:34130203G>A	ENST00000389232.4	+	89	12092	c.12022G>A	c.(12022-12024)Gat>Aat	p.D4008N	RYR3_ENST00000415757.3_Missense_Mutation_p.D4003N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4008					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGCCAAACGATTCCCGCCT	0.463																																																	0													120	119	120					15																	34130203		1949	4151	6100	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12022G>A	15.37:g.34130203G>A	ENSP00000373884:p.Asp4008Asn		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D4008N	ENST00000389232.4	37	c.12022	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256738	0.80246	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97888	-4.59	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98548	0.9515	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.98638	1.0674	10	0.42905	T	0.14	.	18.7376	0.91761	0.0:0.0:1.0:0.0	.	4003;4008	Q15413-2;Q15413	.;RYR3_HUMAN	N	4008;4004	ENSP00000373884:D4008N	ENSP00000354735:D4004N	D	+	1	0	RYR3	31917495	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	9.530000	0.98051	2.650000	0.89964	0.551000	0.68910	GAT	RYR3	-	superfamily_ARM-type_fold		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34130203	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34130203	G	A	34130203	3	1	71	1	0	0	0	0	1	0	0	0	13800	1058	37	1	12376	1	RYR3	15	34130203	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		34130203	68401189	69	10464										
DISP2	85455	genome.wustl.edu	37	chr15	40659419	40659419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ccgcacactggccctgcttcGgacctgtgccctctactacc	8	19	1	0	rs201542979		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:40659419G>A	ENST00000267889.3	+	8	1193	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	369					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCTGCTTCGGACCTGTGCC	0.642																																																	0													136	127	130					15																	40659419		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1106G>A	15.37:g.40659419G>A	ENSP00000267889:p.Arg369Gln		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.R369Q	ENST00000267889.3	37	c.1106	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059135	0.76074	.	.	ENSG00000140323	ENST00000267889	T	0.12465	2.68	5.1	5.1	0.69264	.	0.055576	0.64402	D	0.000001	T	0.32734	0.0839	L	0.48362	1.52	0.58432	D	0.999992	D	0.89917	1.0	D	0.76071	0.987	T	0.01249	-1.1406	10	0.56958	D	0.05	-25.6321	18.7051	0.91635	0.0:0.0:1.0:0.0	.	369	A7MBM2	DISP2_HUMAN	Q	369	ENSP00000267889:R369Q	ENSP00000267889:R369Q	R	+	2	0	DISP2	38446711	1.000000	0.71417	0.966000	0.40874	0.473000	0.32948	7.425000	0.80255	2.659000	0.90383	0.561000	0.74099	CGG	DISP2	-	NULL		0.642	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	G	NM_033510		40659419	1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.970	A	A	40659419	G	A	40659419	3	1	71	1	0	0	0	0	1	0	0	0	4550	1116	39	2	1136	2	DISP2	15	40659419	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	6529216	40659419	61871973	70	10465										
STRA6	64220	genome.wustl.edu	37	chr15	74487663	74487663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cttgggcacctggggacactCtgccctctgccagacctgga	12	15	2	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:74487663C>T	ENST00000323940.5	-	7	822	c.577G>A	c.(577-579)Gag>Aag	p.E193K	STRA6_ENST00000535552.1_Missense_Mutation_p.E230K|STRA6_ENST00000416286.3_Missense_Mutation_p.E185K|STRA6_ENST00000423167.2_Missense_Mutation_p.E184K|STRA6_ENST00000563965.1_Missense_Mutation_p.E232K|STRA6_ENST00000574278.1_Missense_Mutation_p.E208K|STRA6_ENST00000395105.4_Missense_Mutation_p.E193K|STRA6_ENST00000449139.2_Missense_Mutation_p.E193K|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000432245.2_3'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	193					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TGGGGACACTCTGCCCTCTGC	0.642																																																	0													34	35	34					15																	74487663		2198	4297	6495	SO:0001583	missense	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.577G>A	15.37:g.74487663C>T	ENSP00000326085:p.Glu193Lys		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	NULL	p.E232K	ENST00000323940.5	37	c.694	CCDS10261.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.680758	0.96774	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.47	5.47	0.80525	.	0.100005	0.64402	D	0.000002	D	0.88702	0.6508	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.68353	0.957;0.957;0.957;0.957;0.957	D	0.89293	0.3620	10	0.62326	D	0.03	-31.5497	17.0915	0.86623	0.0:1.0:0.0:0.0	.	230;231;184;193;232	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;STRA6_HUMAN;.	K	193;193;125;232;184;230;83	ENSP00000378537:E193K;ENSP00000326085:E193K;ENSP00000413012:E184K;ENSP00000440238:E230K	ENSP00000326085:E193K	E	-	1	0	STRA6	72274716	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.526000	0.73799	2.575000	0.86900	0.563000	0.77884	GAG	STRA6	-	NULL		0.642	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	C			74487663	-1	no_errors	ENST00000563965	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74487663	C	T	74487663	3	4	71	1	0	0	0	0	1	0	0	0	15352	922	32	1	1478	1	STRA6	15	74487663	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	33828244	74487663	28043729	71	10466										
ABHD2	11057	genome.wustl.edu	37	chr15	89731451	89731451	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctttttggagaccatgttaaGaaaccccagagcctggaaga	10	9	0	4			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr15:89731451G>A	ENST00000352732.5	+	8	1363	c.843G>A	c.(841-843)aaG>aaA	p.K281K	ABHD2_ENST00000565973.1_Silent_p.K281K|ABHD2_ENST00000355100.3_Silent_p.K281K	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	281					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACCATGTTAAGAAACCCCAGA	0.498																																					Colon(11;252 417 24570 33239 41878)												0													114	100	105					15																	89731451		2200	4299	6499	SO:0001819	synonymous_variant	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.843G>A	15.37:g.89731451G>A			Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.K281	ENST00000352732.5	37	c.843	CCDS10348.1	15																																																																																			ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT		0.498	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	G			89731451	1	no_errors	ENST00000352732	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89731451	G	A	89731451	2	1	71	1	0	0	0	0	0	0	0	1	82	933	33	1		1	ABHD2	15	89731451	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	15243788	89731451	12799941	72	10467										
CCNF	899	genome.wustl.edu	37	chr16	2499399	2499399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctgctgcacaccagcctgtcCgcctacgccccagcccgcct	8	22	0	0	rs529445674		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr16:2499399C>T	ENST00000397066.4	+	12	1423	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	445					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCAGCCTGTCCGCCTACGCCC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		14728	0		0	False		,,,				2504	0																0													36	36	36					16																	2499399		2198	4296	6494	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1335C>T	16.37:g.2499399C>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.S445	ENST00000397066.4	37	c.1335	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like		0.657	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	C	NM_001761		2499399	1	no_errors	ENST00000397066	ensembl	human	known	70_37	silent	SNP	0.000	T	T	2499399	C	T	2499399	2	4	71	1	0	0	0	0	0	0	0	1	2927	639	23	2		2	CCNF	16	2499399	Silent	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		2499399	87855354	73	10468										
CHST5	23563	genome.wustl.edu	37	chr16	75563856	75563856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gcggctcgttgcccagttgaAaaaggcggacaggtttcggc	15	10	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr16:75563856A>G	ENST00000336257.3	-	3	1821	c.427T>C	c.(427-429)Ttc>Ctc	p.F143L	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.F149L	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	143					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCCAGTTGAAAAAGGCGGAC	0.607																																																	0													76	67	70					16																	75563856		2197	4298	6495	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.427T>C	16.37:g.75563856A>G	ENSP00000338783:p.Phe143Leu		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.F149L	ENST00000336257.3	37	c.445	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957990	0.53400	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.97378	-4.34;-4.36	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	M	0.89785	3.06	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.97927	1.0318	10	0.51188	T	0.08	.	9.8716	0.41177	1.0:0.0:0.0:0.0	.	149;143	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	L	143;149	ENSP00000338783:F143L;ENSP00000441220:F149L	ENSP00000338783:F143L	F	-	1	0	CHST5	74121357	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	8.461000	0.90372	1.240000	0.43803	0.260000	0.18958	TTC	CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.607	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	A	NM_012126		75563856	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75563856	A	G	75563856	3	3	71	1	0	0	0	0	1	0	0	0	3412	14	1	5	812	5	CHST5	16	75563856	Missense_Mutation	SNP	A	TCGA-EA-A3HQ-01A-11D-A20U-09	73064457	75563856	14790897	74	10469										
POLR2A	5430	genome.wustl.edu	37	chr17	7416456	7416456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cttcaccctcctactcccctAcctctccatcctattctcca	0	22	3	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:7416456A>G	ENST00000322644.6	+	29	5272	c.4873A>G	c.(4873-4875)Acc>Gcc	p.T1625A		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1625	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTACTCCCCTACCTCTCCATC	0.587																																																	0													281	282	282					17																	7416456		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4873A>G	17.37:g.7416456A>G	ENSP00000314949:p.Thr1625Ala		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.T1625A	ENST00000322644.6	37	c.4873	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478841	0.26511	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72394	-0.65	3.71	3.71	0.42584	.	0.854734	0.09714	N	0.765263	T	0.73102	0.3544	L	0.52759	1.655	0.80722	D	1	P	0.38767	0.646	P	0.46659	0.523	T	0.71041	-0.4707	10	0.66056	D	0.02	-14.9856	11.8319	0.52301	1.0:0.0:0.0:0.0	.	1625	P24928	RPB1_HUMAN	A	1581;524;1625	ENSP00000314949:T1625A	ENSP00000314949:T1625A	T	+	1	0	SLC35G6	7357180	1.000000	0.71417	0.051000	0.19133	0.537000	0.34900	7.695000	0.84257	1.682000	0.51000	0.374000	0.22700	ACC	POLR2A	-	pfam_RNA_pol_II_repeat_euk		0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	A	NM_000937		7416456	1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	0.927	G	G	7416456	A	G	7416456	3	3	71	1	0	0	0	0	1	0	0	0	12238	391	14	5	4987	5	POLR2A	17	7416456	Missense_Mutation	SNP	A	TCGA-EA-A3HQ-01A-11D-A20U-09		7416456	73778754	75	10470										
CENPV	201161	genome.wustl.edu	37	chr17	16246152	16246152	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cactctttagacatgttcttGatggtcttgtgctctttcat	7	9	5	2	rs547635883		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:16246152G>A	ENST00000299736.4	-	5	860	c.798C>T	c.(796-798)atC>atT	p.I266I	PIGL_ENST00000581006.1_Intron|CENPV_ENST00000476243.1_Silent_p.I112I	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	269					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						ACATGTTCTTGATGGTCTTGT	0.552													G|||	1	0.000199681	0	0	5008	,	,		19882	0		0	False		,,,				2504	0.001																0													179	132	148					17																	16246152		2203	4300	6503	SO:0001819	synonymous_variant	201161			AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"proline rich 6"	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.798C>T	17.37:g.16246152G>A			B2RPK2|Q3L8N5|Q8NFH6	Silent	SNP	pfam_GFA/CENP-V,superfamily_Mss4-like	p.I266	ENST00000299736.4	37	c.798	CCDS32575.1	17																																																																																			CENPV	-	NULL		0.552	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPV	HGNC	protein_coding	OTTHUMT00000131877.1	G	NM_181716		16246152	-1	no_errors	ENST00000299736	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16246152	G	A	16246152	2	1	71	1	0	0	0	0	0	0	0	1	3248	1280	45	1		1	CENPV	17	16246152	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	8829696	16246152	64949058	76	10471										
PHF12	57649	genome.wustl.edu	37	chr17	27254014	27254014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	aagcagcattattacctttcGgcgaacagtgcaccggtgac	10	11	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:27254014G>C	ENST00000332830.4	-	3	1126	c.316C>G	c.(316-318)Cga>Gga	p.R106G	PHF12_ENST00000268756.3_Missense_Mutation_p.R106G|PHF12_ENST00000582655.1_5'Flank|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000592890.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.R106G	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATTACCTTTCGGCGAACAGTG	0.493																																																	0													124	106	112					17																	27254014		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.316C>G	17.37:g.27254014G>C	ENSP00000329933:p.Arg106Gly			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R106G	ENST00000332830.4	37	c.316	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340441	0.81911	.	.	ENSG00000109118	ENST00000332830;ENST00000268756	D;D	0.87491	-2.26;-2.26	5.69	4.68	0.58851	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.057822	0.64402	D	0.000003	D	0.88119	0.6351	L	0.44542	1.39	0.45541	D	0.998491	D;D;D;D;D	0.60575	0.986;0.986;0.988;0.966;0.975	P;P;P;P;P	0.57911	0.582;0.762;0.829;0.462;0.762	D	0.86736	0.1951	10	0.40728	T	0.16	-0.4751	12.6609	0.56813	0.0:0.0:0.7064:0.2936	.	88;106;106;106;106	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	G	106	ENSP00000329933:R106G;ENSP00000268756:R106G	ENSP00000268756:R106G	R	-	1	2	PHF12	24278140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.205000	0.58466	2.677000	0.91161	0.655000	0.94253	CGA	PHF12	-	superfamily_Znf_FYVE_PHD		0.493	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	G	NM_020889		27254014	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27254014	G	C	27254014	3	2	71	1	0	0	0	0	1	0	0	0	11847	1124	39	2	2776	2	PHF12	17	27254014	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	11007862	27254014	53941196	77	10472										
CDK12	51755	genome.wustl.edu	37	chr17	37667867	37667867	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	aacgttacacaccagccataGatgtttggagctgtgggtaa	11	8	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:37667867G>A	ENST00000447079.4	+	8	2785	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	CDK12_ENST00000430627.2_Missense_Mutation_p.D918N	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGCCATAGATGTTTGGAG	0.388			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													116	110	112					17																	37667867		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2752G>A	17.37:g.37667867G>A	ENSP00000398880:p.Asp918Asn		A7E2B2|B4DYX4|B9EIQ6|O94978	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.D918N	ENST00000447079.4	37	c.2752	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536459	0.85812	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.78246	-1.16;-1.16	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000162	D	0.92548	0.7633	H	0.96833	3.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94797	0.7967	10	0.87932	D	0	-9.6532	19.1453	0.93463	0.0:0.0:1.0:0.0	.	917;918;918	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	N	918	ENSP00000407720:D918N;ENSP00000398880:D918N	ENSP00000407720:D918N	D	+	1	0	CDK12	34921393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.686000	0.98664	2.597000	0.87782	0.555000	0.69702	GAT	CDK12	-	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		0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37667867	1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37667867	G	A	37667867	3	1	71	1	0	0	0	0	1	0	0	0	3133	942	33	1	2782	1	CDK12	17	37667867	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	10413853	37667867	43527343	78	10473										
FKBP10	60681	genome.wustl.edu	37	chr17	39974356	39974356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cacagcggggctcattccacCggatgccaccctctacttcg	9	17	2	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:39974356C>T	ENST00000321562.4	+	3	511	c.407C>T	c.(406-408)cCg>cTg	p.P136L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	136	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.		P -> L (in BRKS1). {ECO:0000269|PubMed:22949511}.		chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CTCATTCCACCGGATGCCACC	0.622																																																	0													38	36	36					17																	39974356		2203	4300	6503	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.407C>T	17.37:g.39974356C>T	ENSP00000317232:p.Pro136Leu		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.P136L	ENST00000321562.4	37	c.407	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181641	0.78677	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	T;T	0.60920	0.15;0.15	5.53	4.57	0.56435	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.072927	0.53938	D	0.000047	T	0.80481	0.4631	H	0.94620	3.56	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	D	0.86123	0.1570	10	0.72032	D	0.01	-20.1069	14.0952	0.65016	0.0:0.9269:0.0:0.0731	.	136	Q96AY3	FKB10_HUMAN	L	136;76;136;136	ENSP00000408232:P76L;ENSP00000317232:P136L	ENSP00000269598:P136L	P	+	2	0	FKBP10	37227882	1.000000	0.71417	0.966000	0.40874	0.699000	0.40488	6.079000	0.71291	1.369000	0.46134	0.561000	0.74099	CCG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	C	NM_021939		39974356	1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	0.999	T	T	39974356	C	T	39974356	3	4	71	1	0	0	0	0	1	0	0	0	5920	652	23	2	417	2	FKBP10	17	39974356	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	2306489	39974356	41220854	79	10474										
KIAA1267	284058	genome.wustl.edu	37	chr17	44109643	44109643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gcccagctggggggttgtccGgccgtctgatgacctgtagg	17	11	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:44109643G>A	ENST00000262419.6	-	14	3330	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W	KANSL1_ENST00000575318.1_Missense_Mutation_p.R890W|KANSL1_ENST00000393476.3_Missense_Mutation_p.R248W|KANSL1_ENST00000572904.1_Missense_Mutation_p.R954W|KANSL1_ENST00000574590.1_Missense_Mutation_p.R954W|KANSL1_ENST00000432791.1_Missense_Mutation_p.R954W	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	954	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGGTTGTCCGGCCGTCTGAT	0.562																																																	0													40	44	43					17																	44109643		2203	4298	6501	SO:0001583	missense	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2860C>T	17.37:g.44109643G>A	ENSP00000262419:p.Arg954Trp		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.R954W	ENST00000262419.6	37	c.2860	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.269840	0.95429	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.28255	2.44;2.44;1.62	5.2	5.2	0.72013	.	0.135774	0.50627	D	0.000105	T	0.52517	0.1739	L	0.55990	1.75	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.52631	-0.8550	10	0.87932	D	0	-10.8125	17.4764	0.87660	0.0:0.0:1.0:0.0	.	222;285;954;954	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	W	954;954;248	ENSP00000262419:R954W;ENSP00000387393:R954W;ENSP00000377117:R248W	ENSP00000262419:R954W	R	-	1	2	KIAA1267	41465490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.626000	0.74253	2.706000	0.92434	0.561000	0.74099	CGG	KANSL1	-	NULL		0.562	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44109643	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44109643	G	A	44109643	3	1	71	1	0	0	0	0	1	0	0	0	8239	1115	39	2	465	2	KIAA1267	17	44109643	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	4135287	44109643	37085567	80	10475										
PNPO	55163	genome.wustl.edu	37	chr17	46019090	46019090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cgacgttcgggcgacctgccGagtggccaggctacctcagt	14	14	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:46019090G>A	ENST00000225573.4	+	1	154	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AC003665.1_ENST00000433001.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.E17K|PNPO_ENST00000544840.1_Missense_Mutation_p.E17K|PNPO_ENST00000534893.1_5'UTR|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	17					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GCGACCTGCCGAGTGGCCAGG	0.706																																																	0													16	14	15					17																	46019090		2138	4193	6331	SO:0001583	missense	55163			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.49G>A	17.37:g.46019090G>A	ENSP00000225573:p.Glu17Lys		B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase	p.E17K	ENST00000225573.4	37	c.49	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944323	0.53079	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	T;T;T	0.72725	-0.68;-0.68;-0.68	4.98	0.128	0.14733	.	1.386070	0.04308	N	0.348487	T	0.44623	0.1302	N	0.08118	0	0.20196	N	0.999926	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38520	-0.9657	10	0.02654	T	1	-19.0041	5.4966	0.16805	0.1458:0.3241:0.5301:0.0	.	17;17;17	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	K	17	ENSP00000225573:E17K;ENSP00000399960:E17K;ENSP00000446182:E17K	ENSP00000225573:E17K	E	+	1	0	PNPO	43374089	0.007000	0.16637	0.002000	0.10522	0.695000	0.40330	0.322000	0.19576	-0.078000	0.12730	-0.300000	0.09419	GAG	PNPO	-	NULL		0.706	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	G	NM_018129		46019090	1	no_errors	ENST00000225573	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46019090	G	A	46019090	3	1	71	1	0	0	0	0	1	0	0	0	12196	1059	37	1	51	1	PNPO	17	46019090	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	1909447	46019090	35176120	81	10476										
C17orf56	146705	genome.wustl.edu	37	chr17	79205719	79205719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	cggaatgactgcccgagtccGagaccctgctcaggtcgctg	13	14	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr17:79205719G>A	ENST00000300714.3	-	8	686	c.629C>T	c.(628-630)tCg>tTg	p.S210L	ENTHD2_ENST00000374769.2_Missense_Mutation_p.S126L|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	210	Ser-rich.					cytoplasmic vesicle (GO:0031410)											GCCCGAGTCCGAGACCCTGCT	0.662																																																	0													59	66	64					17																	79205719		2203	4300	6503	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.629C>T	17.37:g.79205719G>A	ENSP00000300714:p.Ser210Leu		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.S210L	ENST00000300714.3	37	c.629	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015443	0.35511	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.18810	2.19;2.19	5.09	4.12	0.48240	.	0.063430	0.64402	N	0.000004	T	0.16599	0.0399	L	0.46157	1.445	0.53005	D	0.999966	P;P	0.43024	0.505;0.798	B;B	0.30029	0.08;0.11	T	0.03576	-1.1023	10	0.59425	D	0.04	-11.1565	13.6638	0.62382	0.0751:0.0:0.9249:0.0	.	210;126	Q96N21;Q96N21-2	CQ056_HUMAN;.	L	210;126	ENSP00000300714:S210L;ENSP00000363901:S126L	ENSP00000300714:S210L	S	-	2	0	C17orf56	76820314	1.000000	0.71417	0.029000	0.17559	0.004000	0.04260	3.675000	0.54605	1.150000	0.42419	0.561000	0.74099	TCG	ENTHD2	-	NULL		0.662	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	G	NM_144679		79205719	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	missense	SNP	0.992	A	A	79205719	G	A	79205719	3	1	71	1	0	0	0	0	1	0	0	0	1868	1059	37	1	968	1	C17orf56	17	79205719	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	33186629	79205719	1989491	82	10477										
COLEC12	81035	genome.wustl.edu	37	chr18	346444	346444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tgagagaaacagaatccaaaCggatgttggccagggtatta	12	6	0	3	rs146515222	byFrequency	TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr18:346444C>T	ENST00000400256.3	-	5	1385	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	393					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGAATCCAAACGGATGTTGGC	0.428																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	178	153	161		1178	5.8	1	18	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	no	missense	COLEC12	NM_130386.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	393/743	346444	3,13003	2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1178G>A	18.37:g.346444C>T	ENSP00000383115:p.Arg393His		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R393H	ENST00000400256.3	37	c.1178	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609819	0.46527	2.27E-4	2.33E-4	ENSG00000158270	ENST00000400256	T	0.77877	-1.13	5.76	5.76	0.90799	.	0.094281	0.64402	D	0.000001	T	0.71316	0.3325	L	0.27053	0.805	0.52099	D	0.99994	P	0.50943	0.94	P	0.47162	0.54	T	0.72516	-0.4269	10	0.45353	T	0.12	-10.825	13.1959	0.59738	0.0:0.9273:0.0:0.0727	.	393	Q5KU26	COL12_HUMAN	H	393	ENSP00000383115:R393H	ENSP00000383115:R393H	R	-	2	0	COLEC12	336444	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.558000	0.53749	2.721000	0.93114	0.655000	0.94253	CGT	COLEC12	-	NULL		0.428	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	C			346444	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	T	T	346444	C	T	346444	3	4	71	1	0	0	0	0	1	0	0	0	3717	536	19	2	1074	2	COLEC12	18	346444	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		346444	77730804	83	10478										
CIRBP	1153	genome.wustl.edu	37	chr19	1271030	1271030	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ctcaaagtacggacagatctCtgaaggtgaggctgctgctg	13	9	2	3			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:1271030C>T	ENST00000588030.1	+	2	358	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CIRBP_ENST00000588230.1_Missense_Mutation_p.S33F|CIRBP_ENST00000588090.1_Missense_Mutation_p.S33F|CIRBP_ENST00000589686.1_Missense_Mutation_p.S33F|CIRBP_ENST00000413636.2_Missense_Mutation_p.S33F|CIRBP_ENST00000444172.2_Silent_p.L16L|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589660.1_Missense_Mutation_p.S33F|CIRBP_ENST00000585630.1_Missense_Mutation_p.S33F|CIRBP_ENST00000320936.5_Missense_Mutation_p.S33F|CIRBP_ENST00000591935.1_Missense_Mutation_p.S33F|CIRBP_ENST00000586773.1_Missense_Mutation_p.S33F|CIRBP_ENST00000586472.1_Missense_Mutation_p.S33F|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589235.1_Missense_Mutation_p.S33F|CIRBP_ENST00000589710.1_Missense_Mutation_p.S33F|CIRBP_ENST00000587323.1_Missense_Mutation_p.S33F|CIRBP_ENST00000587896.1_Missense_Mutation_p.S33F			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	33	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGATCTCTGAAGGTGAG	0.587																																																	0													109	115	113					19																	1271030		2203	4300	6503	SO:0001583	missense	1153			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"RNA binding motif (RRM) containing"	1982	protein-coding gene	gene with protein product	"Cold-inducible RNA-binding protein", "glycine-rich RNA binding protein"	602649	"cold inducible RNA-binding protein"			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.98C>T	19.37:g.1271030C>T	ENSP00000468788:p.Ser33Phe		B3KT17|B4E2X2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.S33F	ENST00000588030.1	37	c.98	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195326	0.38806	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	D;D	0.85702	-2.02;-2.02	4.14	3.1	0.35709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.423461	0.22313	U	0.061706	D	0.89033	0.6600	L	0.56199	1.76	0.80722	D	1	D;D;D	0.71674	0.995;0.997;0.998	D;D;D	0.75484	0.968;0.986;0.986	D	0.88227	0.2901	10	0.87932	D	0	-2.5029	10.3935	0.44188	0.0:0.902:0.0:0.098	.	33;33;33	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	F	33	ENSP00000322887:S33F;ENSP00000412831:S33F	ENSP00000322887:S33F	S	+	2	0	CIRBP	1222030	0.491000	0.26019	0.007000	0.13788	0.026000	0.11368	4.875000	0.63072	0.733000	0.32492	0.453000	0.30009	TCT	CIRBP	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.587	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	C	NM_001280		1271030	1	no_errors	ENST00000585914	ensembl	human	known	70_37	missense	SNP	0.899	T	T	1271030	C	T	1271030	3	4	71	1	0	0	0	0	1	0	0	0	3438	913	32	1	100	1	CIRBP	19	1271030	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		1271030	57857953	84	10479										
C3	718	genome.wustl.edu	37	chr19	6707526	6707526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	acggaacggcgtcggcgggcGgctggctgcgggcactgaag	20	11	0	1	rs373167228		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:6707526G>A	ENST00000245907.6	-	16	2090	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	666					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTCGGCGGGCGGCTGGCTGCG	0.647																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	36	45	42		1998	-9.9	0	19		42	0,8598		0,0,4299	no	coding-synonymous	C3	NM_000064.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		666/1664	6707526	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1998C>T	19.37:g.6707526G>A			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.A666	ENST00000245907.6	37	c.1998	CCDS32883.1	19																																																																																			C3	-	NULL		0.647	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	G	NM_000064		6707526	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	silent	SNP	0.000	A	A	6707526	G	A	6707526	2	1	71	1	0	0	0	0	0	0	0	1	2209	1103	39	2		2	C3	19	6707526	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	5436496	6707526	52421457	85	10480										
INSR	3643	genome.wustl.edu	37	chr19	7117417	7117417	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ccagcacatgcgcatgaggtCagtgctgcggggcagaagga	16	10	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:7117417C>A	ENST00000302850.5	-	22	3941	c.3799G>T	c.(3799-3801)Gac>Tac	p.D1267Y	INSR_ENST00000341500.5_Missense_Mutation_p.D1255Y	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGCATGAGGTCAGTGCTGCGG	0.612																																																	0													72	63	66					19																	7117417		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3799G>T	19.37:g.7117417C>A	ENSP00000303830:p.Asp1267Tyr		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D1267Y	ENST00000302850.5	37	c.3799	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457738	0.26161	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.90844	-2.74;-2.74	5.14	1.7	0.24286	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.841780	0.10103	N	0.715772	D	0.84817	0.5556	L	0.41632	1.29	0.24885	N	0.992207	B;B	0.21071	0.041;0.051	B;B	0.19391	0.024;0.025	T	0.75593	-0.3264	10	0.72032	D	0.01	.	5.5794	0.17241	0.0:0.5111:0.0:0.4889	.	1255;1267	P06213-2;P06213	.;INSR_HUMAN	Y	1267;1255	ENSP00000303830:D1267Y;ENSP00000342838:D1255Y	ENSP00000303830:D1267Y	D	-	1	0	INSR	7068417	0.978000	0.34361	0.219000	0.23793	0.618000	0.37518	2.190000	0.42630	0.677000	0.31305	0.563000	0.77884	GAC	INSR	-	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,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	C			7117417	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	0.461	A	A	7117417	C	A	7117417	3	1	71	1	0	0	0	0	1	0	0	0	7793	826	29	3	353	3	INSR	19	7117417	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	409891	7117417	52011566	86	10481										
SLC25A42	284439	genome.wustl.edu	37	chr19	19206970	19206970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	aggaaggcccggtgcgattgCatgaggatgctgaggctgtc	17	8	0	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:19206970C>A	ENST00000318596.7	+	2	188	c.37C>A	c.(37-39)Cat>Aat	p.H13N		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	13					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGTGCGATTGCATGAGGATGC	0.622																																																	0													205	163	177					19																	19206970		2203	4300	6503	SO:0001583	missense	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.37C>A	19.37:g.19206970C>A	ENSP00000326693:p.His13Asn		D2T2J5|O14553|O43378	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.H13N	ENST00000318596.7	37	c.37	CCDS32966.1	19	.	.	.	.	.	.	.	.	.	.	C	1.191	-0.635297	0.03584	.	.	ENSG00000181035	ENST00000318596	T	0.78595	-1.19	3.72	1.32	0.21799	.	1.629490	0.03327	N	0.192776	T	0.52741	0.1753	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48547	-0.9026	10	0.17369	T	0.5	0.0421	5.9651	0.19320	0.3297:0.4924:0.1779:0.0	.	65;13	B7Z8R5;Q86VD7	.;S2542_HUMAN	N	13	ENSP00000326693:H13N	ENSP00000326693:H13N	H	+	1	0	SLC25A42	19067970	0.201000	0.23410	0.286000	0.24833	0.264000	0.26372	0.464000	0.21988	0.901000	0.36495	0.462000	0.41574	CAT	SLC25A42	-	NULL		0.622	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19206970	1	no_errors	ENST00000318596	ensembl	human	known	70_37	missense	SNP	0.033	A	A	19206970	C	A	19206970	3	1	71	1	0	0	0	0	1	0	0	0	14537	710	25	4	39	4	SLC25A42	19	19206970	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	12089553	19206970	39922013	87	10482										
PSENEN	55851	genome.wustl.edu	37	chr19	36237663	36237663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	ggtgatagtgctcacctcctGgatcaccatcttccagatct	8	13	4	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:36237663G>T	ENST00000587708.2	+	4	904	c.221G>T	c.(220-222)tGg>tTg	p.W74L	AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Missense_Mutation_p.W74L|AD000671.6_ENST00000589807.1_5'Flank|PSENEN_ENST00000591949.1_3'UTR|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.11_ENST00000591091.1_RNA|U2AF1L4_ENST00000292879.5_5'Flank|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000378975.3_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|LIN37_ENST00000301159.9_5'Flank			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	74					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.W74*(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCACCTCCTGGATCACCATC	0.592																																																	1	Substitution - Nonsense(1)	central_nervous_system(1)											84	87	86					19																	36237663		2203	4300	6503	SO:0001583	missense	55851			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"presenilin enhancer 2 homolog (C. elegans)"			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.221G>T	19.37:g.36237663G>T	ENSP00000468411:p.Trp74Leu		B2R5L9	Missense_Mutation	SNP	pfam_Gamma_Secretase_Asp_P_PEN2	p.W74L	ENST00000587708.2	37	c.221	CCDS12474.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.418642	0.96092	.	.	ENSG00000205155	ENST00000222266	D	0.86769	-2.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95575	0.8641	10	0.87932	D	0	-19.9147	18.958	0.92668	0.0:0.0:1.0:0.0	.	74	Q9NZ42	PEN2_HUMAN	L	74	ENSP00000222266:W74L	ENSP00000222266:W74L	W	+	2	0	PSENEN	40929503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.761000	0.91691	2.775000	0.95449	0.655000	0.94253	TGG	PSENEN	-	pfam_Gamma_Secretase_Asp_P_PEN2		0.592	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSENEN	HGNC	protein_coding	OTTHUMT00000459101.2	G	NM_172341		36237663	1	no_errors	ENST00000222266	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36237663	G	T	36237663	3	4	71	1	0	0	0	0	1	0	0	0	12679	1357	47	4	231	4	PSENEN	19	36237663	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	17030693	36237663	22891320	88	10483										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47423319	47423319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gtagttttattatgaatgagGatttctaccagtggctggag	12	4	1	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr19:47423319G>T	ENST00000404338.3	+	1	1387	c.1387G>T	c.(1387-1389)Gat>Tat	p.D463Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	463	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TATGAATGAGGATTTCTACCA	0.408																																																	0													30	30	30					19																	47423319		1824	4076	5900	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1387G>T	19.37:g.47423319G>T	ENSP00000385720:p.Asp463Tyr		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D463Y	ENST00000404338.3	37	c.1387	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693202	0.68386	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08807	3.05	5.95	5.95	0.96441	.	0.097634	0.64402	D	0.000001	T	0.19248	0.0462	L	0.36672	1.1	0.80722	D	1	D	0.57571	0.98	P	0.58721	0.844	T	0.00036	-1.2255	10	0.87932	D	0	-35.2622	19.1646	0.93551	0.0:0.0:1.0:0.0	.	463	Q9NRY4-2	.	Y	463	ENSP00000385720:D463Y	ENSP00000324820:D463Y	D	+	1	0	ARHGAP35	52115159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAT	ARHGAP35	-	superfamily_FF_domain,smart_FF_domain		0.408	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47423319	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47423319	G	T	47423319	3	4	71	1	0	0	0	0	1	0	0	0	6815	1174	41	3	1389	3	ARHGAP35	19	47423319	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	11185656	47423319	11705664	89	10484										
HAO1	54363	genome.wustl.edu	37	chr20	7886947	7886947	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	aattttcctcaggagaaaatGataaagtactggtttcaaaa	7	5	2	2	rs569371584	byFrequency	TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr20:7886947G>C	ENST00000378789.3	-	4	626	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	192	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.S192*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGAGAAAATGATAAAGTACT	0.343																																																	1	Substitution - Nonsense(1)	lung(1)											72	73	73					20																	7886947		2203	4300	6503	SO:0001587	stop_gained	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.575C>G	20.37:g.7886947G>C	ENSP00000368066:p.Ser192*		Q14CQ0|Q9UPZ0|Q9Y3I7	Nonsense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.S192*	ENST00000378789.3	37	c.575	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.078577	0.94050	.	.	ENSG00000101323	ENST00000378789	.	.	.	5.54	5.54	0.83059	.	0.165435	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.2561	15.8275	0.78725	0.0:0.0:0.8637:0.1363	.	.	.	.	X	192	.	ENSP00000368066:S192X	S	-	2	0	HAO1	7834947	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.054000	0.71096	2.596000	0.87737	0.591000	0.81541	TCA	HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	G			7886947	-1	no_errors	ENST00000378789	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	7886947	G	C	7886947	4	2	71	1	0	0	0	0	0	1	0	0	6971	1294	45	1	557	1	HAO1	20	7886947	Nonsense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		7886947	55138573	90	10485										
RBPJL	11317	genome.wustl.edu	37	chr20	43945198	43945198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tcaaggtgtggtttggggacGtggaggcagaaaccatgtac	16	6	1	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr20:43945198G>A	ENST00000343694.3	+	11	1330	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	RBPJL_ENST00000372743.1_Missense_Mutation_p.V420M|RBPJL_ENST00000372741.3_Missense_Mutation_p.V420M|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	420	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GTTTGGGGACGTGGAGGCAGA	0.692																																																	0													52	52	52					20																	43945198		1948	3794	5742	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1258G>A	20.37:g.43945198G>A	ENSP00000341243:p.Val420Met		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.V420M	ENST00000343694.3	37	c.1258	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717948	0.48622	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.18960	2.18;2.18;2.18	4.54	4.54	0.55810	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.179203	0.37136	N	0.002233	T	0.22437	0.0541	L	0.52011	1.625	0.40049	D	0.975757	D;D	0.61080	0.989;0.978	B;B	0.40677	0.337;0.139	T	0.10776	-1.0615	10	0.59425	D	0.04	-23.9878	16.862	0.86021	0.0:0.0:1.0:0.0	.	420;420	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	M	420	ENSP00000361828:V420M;ENSP00000361826:V420M;ENSP00000341243:V420M	ENSP00000341243:V420M	V	+	1	0	RBPJL	43378612	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.822000	0.55708	2.510000	0.84645	0.549000	0.68633	GTG	RBPJL	-	superfamily_Ig_E-set		0.692	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	G	NM_014276		43945198	1	no_errors	ENST00000343694	ensembl	human	known	70_37	missense	SNP	0.995	A	A	43945198	G	A	43945198	3	1	71	1	0	0	0	0	1	0	0	0	13192	1145	40	2	1300	2	RBPJL	20	43945198	Missense_Mutation	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09	36058251	43945198	19080322	91	10486										
C21orf29	54084	genome.wustl.edu	37	chr21	45924701	45924701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	accgagaaggtacgcccatcGaaggagttggccaccaccag	12	13	0	1			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr21:45924701G>A	ENST00000323084.4	-	11	1883	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	606					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TACGCCCATCGAAGGAGTTGG	0.542																																																	0													87	83	84					21																	45924701		2203	4300	6503	SO:0001819	synonymous_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1818C>T	21.37:g.45924701G>A				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.F606	ENST00000323084.4	37	c.1818	CCDS13712.1	21																																																																																			TSPEAR	-	pfam_EPTP,pfscan_EAR		0.542	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	G	NM_144991		45924701	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	silent	SNP	0.801	A	A	45924701	G	A	45924701	2	1	71	1	0	0	0	0	0	0	0	1	2129	1049	37	1		1	C21orf29	21	45924701	Silent	SNP	G	TCGA-EA-A3HQ-01A-11D-A20U-09		45924701	2205194	92	10487										
EP300	2033	genome.wustl.edu	37	chr22	41537115	41537115	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	agaaagaactagaagaaaaaCgaaggaccagactacagaag	10	6	0	6	rs137853039		TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chr22:41537115C>T	ENST00000263253.7	+	10	3161	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	648					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAAGAAAAACGAAGGACCAG	0.443			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0			GRCh37	CM052869	EP300	M	rs137853039						84	80	81					22																	41537115		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1942C>T	22.37:g.41537115C>T	ENSP00000263253:p.Arg648*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R648*	ENST00000263253.7	37	c.1942	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	49	15.706483	0.99842	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.29	5.29	0.74685	.	0.000000	0.38381	N	0.001717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3768	14.9699	0.71226	0.1433:0.8567:0.0:0.0	.	.	.	.	X	648	.	ENSP00000263253:R648X	R	+	1	2	EP300	39867061	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.481000	0.45215	2.620000	0.88729	0.467000	0.42956	CGA	EP300	-	NULL		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41537115	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41537115	C	T	41537115	4	4	71	1	0	0	0	0	0	1	0	0	5160	528	19	2	1980	2	EP300	22	41537115	Nonsense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		41537115	9767451	93	10488										
SH3KBP1	30011	genome.wustl.edu	37	chrX	19568181	19568181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tttctcagtagatgataccaCggagtcaaaaccttctaagt	7	9	3	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:19568181C>T	ENST00000397821.3	-	14	1695	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.V208M|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.V231M|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.V432M	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	469					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GATGATACCACGGAGTCAAAA	0.443																																																	0													141	122	128					X																	19568181		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1405G>A	X.37:g.19568181C>T	ENSP00000380921:p.Val469Met		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.V469M	ENST00000397821.3	37	c.1405	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	C	16.35	3.100008	0.56183	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.26	5.26	0.73747	.	0.136830	0.50627	D	0.000114	T	0.33352	0.0860	L	0.54323	1.7	0.58432	D	0.999998	B;B;B	0.25521	0.03;0.011;0.128	B;B;B	0.18561	0.008;0.006;0.022	T	0.15065	-1.0450	10	0.87932	D	0	-9.3549	18.0381	0.89311	0.0:1.0:0.0:0.0	.	231;469;432	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	M	454;469;231;432;208;449	ENSP00000380921:V469M;ENSP00000369039:V231M;ENSP00000369020:V432M;ENSP00000442499:V208M;ENSP00000369049:V449M	ENSP00000369020:V432M	V	-	1	0	SH3KBP1	19478102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.505000	0.53356	2.193000	0.70182	0.600000	0.82982	GTG	SH3KBP1	-	NULL		0.443	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	C	NM_031892		19568181	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19568181	C	T	19568181	3	4	71	1	0	0	0	0	1	0	0	0	14285	536	19	2	612	2	SH3KBP1	23	19568181	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09		19568181	135702379	94	10489										
CACNA1F	778	genome.wustl.edu	37	chrX	49066140	49066140	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	tcgttgcctagtagccctttTtctttcctccgccggaattt	7	13	1	0			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:49066140T>A	ENST00000376265.2	-	41	4864	c.4803A>T	c.(4801-4803)gaA>gaT	p.E1601D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1590D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1536D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1601					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGCCCTTTTTCTTTCCTCC	0.587																																																	0													88	67	74					X																	49066140		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4803A>T	X.37:g.49066140T>A	ENSP00000365441:p.Glu1601Asp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1601D	ENST00000376265.2	37	c.4803	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814587	0.70912	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265;ENST00000486943	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	1.02	0.19986	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.052436	0.64402	D	0.000001	T	0.72220	0.3433	L	0.49126	1.545	0.45239	D	0.99824	D;D	0.76494	0.99;0.999	P;D	0.72338	0.819;0.977	T	0.69855	-0.5032	10	0.66056	D	0.02	.	8.3415	0.32247	0.0:0.3725:0.0:0.6275	.	1590;1601	F5CIQ9;O60840	.;CAC1F_HUMAN	D	1536;1590;1601;11	ENSP00000365427:E1536D;ENSP00000321618:E1590D;ENSP00000365441:E1601D	ENSP00000321618:E1590D	E	-	3	2	CACNA1F	48953084	0.997000	0.39634	0.982000	0.44146	0.539000	0.34962	0.664000	0.25068	0.179000	0.19938	0.486000	0.48141	GAA	CACNA1F	-	pfam_VDCC_a1su_IQ		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	T	NM_005183		49066140	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49066140	T	A	49066140	3	1	71	1	0	0	0	0	1	0	0	0	2548	1838	64	5	1162	5	CACNA1F	23	49066140	Missense_Mutation	SNP	T	TCGA-EA-A3HQ-01A-11D-A20U-09	29497959	49066140	106204420	95	10490										
ZNF711	7552	genome.wustl.edu	37	chrX	84525770	84525770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	acatgaagaatcatcctgatCatttaatgagaaaaaaatat	5	5	2	4			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:84525770C>T	ENST00000373165.3	+	9	1528	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	ZNF711_ENST00000542798.1_Missense_Mutation_p.H250Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.H408Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.H454Y|ZNF711_ENST00000395402.1_Missense_Mutation_p.H416Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	408					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCATCCTGATCATTTAATGAG	0.358																																																	0													34	29	30					X																	84525770		2203	4295	6498	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1222C>T	X.37:g.84525770C>T	ENSP00000362260:p.His408Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H416Y	ENST00000373165.3	37	c.1246	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037390	0.54896	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.07688	3.18;3.23;3.23;3.2;3.17	5.49	4.62	0.57501	Zinc finger, C2H2 (1);	0.000000	0.45126	D	0.000388	T	0.26376	0.0644	M	0.72353	2.195	0.53688	D	0.999975	D;B	0.55172	0.97;0.141	D;B	0.68943	0.961;0.039	T	0.00662	-1.1621	10	0.46703	T	0.11	-11.8893	13.6505	0.62308	0.0:0.9233:0.0:0.0767	.	454;408	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	416;408;408;454;250	ENSP00000378798:H416Y;ENSP00000362260:H408Y;ENSP00000276123:H408Y;ENSP00000353922:H454Y;ENSP00000442071:H250Y	ENSP00000276123:H408Y	H	+	1	0	ZNF711	84412426	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	1.086000	0.41228	0.513000	0.50165	CAT	ZNF711	-	pfscan_Znf_C2H2		0.358	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	C	NM_021998		84525770	1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84525770	C	T	84525770	3	4	71	1	0	0	0	0	1	0	0	0	18146	826	29	1	1248	1	ZNF711	23	84525770	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	35459630	84525770	70744790	96	10491										
NAP1L3	4675	genome.wustl.edu	37	chrX	92927307	92927307	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.175257731958763	17	0.00957130879011252	1.91725882859604	3.48006644518272	1.7489564698867	0.000830329069435324	0.00575299426680189	8	gaacttcagaatgggctcatCatacttctgaatcataggcc	8	10	5	2			TCGA-EA-A3HQ-01A-11D-A20U-09	TCGA-EA-A3HQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52acd6b9-e95e-47ff-933e-eaa927aa6cfd	86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2	g.chrX:92927307C>T	ENST00000373079.3	-	1	1260	c.997G>A	c.(997-999)Gat>Aat	p.D333N	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.D326N	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	333					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATGGGCTCATCATACTTCTGA	0.428																																																	0													56	52	53					X																	92927307		2203	4300	6503	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.997G>A	X.37:g.92927307C>T	ENSP00000362171:p.Asp333Asn		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.D333N	ENST00000373079.3	37	c.997	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873305	0.72180	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.71934	-0.61	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	M	0.90425	3.115	0.38692	D	0.952782	D	0.89917	1.0	D	0.91635	0.999	D	0.89307	0.3630	10	0.87932	D	0	.	12.5238	0.56075	0.0:1.0:0.0:0.0	.	333	Q99457	NP1L3_HUMAN	N	333;326	ENSP00000362171:D333N	ENSP00000362171:D333N	D	-	1	0	NAP1L3	92813963	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.845000	0.48254	2.107000	0.64212	0.529000	0.55759	GAT	NAP1L3	-	pfam_NAP_family		0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	C	NM_004538		92927307	-1	no_errors	ENST00000373079	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92927307	C	T	92927307	3	4	71	1	0	0	0	0	1	0	0	0	10181	826	29	1	527	1	NAP1L3	23	92927307	Missense_Mutation	SNP	C	TCGA-EA-A3HQ-01A-11D-A20U-09	8401537	92927307	62343253	97	10492										
SCNN1D	6339	genome.wustl.edu	37	chr1	1221594	1221594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	accgcccggtcctcatggccGtctctgtgcactcggagcgc	12	17	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:1221594G>T	ENST00000338555.2	+	4	1499	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F	SCNN1D_ENST00000379116.5_Missense_Mutation_p.V283F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V119F|SCNN1D_ENST00000325425.8_Missense_Mutation_p.V185F			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	119					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCATGGCCGTCTCTGTGCA	0.711																																																	0													23	24	24					1																	1221594		2175	4278	6453	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.355G>T	1.37:g.1221594G>T	ENSP00000339504:p.Val119Phe		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.V283F	ENST00000338555.2	37	c.847		1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053753	0.36277	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.53	-2.27	0.06846	.	0.572149	0.15998	N	0.234455	T	0.66056	0.2751	M	0.66939	2.045	0.09310	N	1	D;D	0.65815	0.983;0.995	P;P	0.62649	0.905;0.864	T	0.57418	-0.7815	10	0.72032	D	0.01	.	2.3002	0.04160	0.5012:0.1332:0.2302:0.1354	.	119;283	P51172;A6NNF7	SCNND_HUMAN;.	F	150;283;119;185;119	ENSP00000368411:V283F;ENSP00000339504:V119F;ENSP00000321594:V185F;ENSP00000383717:V119F	ENSP00000321594:V185F	V	+	1	0	SCNN1D	1211457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.108000	0.10857	-0.559000	0.06110	-1.506000	0.00953	GTC	SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.711	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	G	NM_002978		1221594	1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1221594	G	T	1221594	3	4	72	1	0	0	0	0	1	0	0	0	13959	1145	40	2	567	2	SCNN1D	1	1221594	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		1221594	248029027	1	10493										
TNFRSF8	943	genome.wustl.edu	37	chr1	12202462	12202462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ttggaggaggagctggaggcGgaccataccccccactaccc	13	14	0	0	rs376213546		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:12202462G>A	ENST00000263932.2	+	15	1884	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Silent_p.A442A|TNFRSF8_ENST00000413146.2_Silent_p.A91A	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	554					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGCTGGAGGCGGACCATACCC	0.662																																																	0								G	,	0,4402		0,0,2201	33	37	36		1662,273	2.1	1	1		36	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TNFRSF8	NM_001243.3,NM_152942.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	554/596,91/133	12202462	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1662G>A	1.37:g.12202462G>A			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.A554	ENST00000263932.2	37	c.1662	CCDS144.1	1																																																																																			TNFRSF8	-	prints_TNFR_8		0.662	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12202462	1	no_errors	ENST00000263932	ensembl	human	known	70_37	silent	SNP	0.926	A	A	12202462	G	A	12202462	2	1	72	1	0	0	0	0	0	0	0	1	16329	1103	39	2		2	TNFRSF8	1	12202462	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	10980868	12202462	237048159	2	10494										
HTR1D	3352	genome.wustl.edu	37	chr1	23520071	23520071	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tagatccggccatataggatGatgagcaacaccgagggaat	12	8	0	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:23520071G>A	ENST00000374619.1	-	1	1151	c.642C>T	c.(640-642)atC>atT	p.I214I	HTR1D_ENST00000314113.3_Silent_p.I214I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577																																																	0													62	66	65					1																	23520071		2203	4300	6503	SO:0001819	synonymous_variant	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.642C>T	1.37:g.23520071G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.I214	ENST00000374619.1	37	c.642	CCDS231.1	1																																																																																			HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	G	NM_000864		23520071	-1	no_errors	ENST00000314113	ensembl	human	known	70_37	silent	SNP	0.992	A	A	23520071	G	A	23520071	2	1	72	1	0	0	0	0	0	0	0	1	7458	1280	45	1		1	HTR1D	1	23520071	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	11317609	23520071	225730550	3	10495										
NASP	4678	genome.wustl.edu	37	chr1	46079769	46079769	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ttatttggttatactttagtCtcttcaagaaaatgaggagg	9	4	2	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:46079769C>G	ENST00000350030.3	+	8	1595	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	NASP_ENST00000402363.3_Splice_Site_p.S505C|NASP_ENST00000351223.3_Splice_Site_p.S164C|NASP_ENST00000537798.1_Splice_Site_p.S439C|NASP_ENST00000372052.4_Splice_Site_p.S137C|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	503	Glu-rich (acidic).|Histone-binding.				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATACTTTAGTCTCTTCAAGAA	0.328																																																	0													76	82	80					1																	46079769		2203	4300	6503	SO:0001630	splice_region_variant	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1507-1C>G	1.37:g.46079769C>G			A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S505C	ENST00000350030.3	37	c.1514	CCDS524.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.142185|2.142185	0.37825|0.37825	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000437901;ENST00000525515;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	.|D;D;D;D;D;D;D;D	.|0.94966	.|-3.53;-3.53;-3.57;-3.57;-3.53;-3.57;-3.53;-3.53	5.73|5.73	4.81|4.81	0.61882|0.61882	.|.	.|0.554792	.|0.19656	.|N	.|0.109096	D|D	0.92984|0.92984	0.7767|0.7767	L|L	0.34521|0.34521	1.04|1.04	0.36189|0.36189	D|D	0.849978|0.849978	.|D;P;D;D	.|0.67145	.|0.996;0.938;0.993;0.996	.|P;B;P;P	.|0.56216	.|0.794;0.319;0.628;0.794	D|D	0.93813|0.93813	0.7112|0.7112	5|10	.|0.87932	.|D	.|0	-0.6531|-0.6531	7.1417|7.1417	0.25560|0.25560	0.1431:0.7207:0.0:0.1362|0.1431:0.7207:0.0:0.1362	.|.	.|439;164;503;505	.|F5H3J2;Q5T626;P49321;P49321-3	.|.;.;NASP_HUMAN;.	V|C	28|164;148;439;505;403;100;503;137;164	.|ENSP00000400792:S164C;ENSP00000436939:S148C;ENSP00000438871:S439C;ENSP00000384529:S505C;ENSP00000432289:S100C;ENSP00000255120:S503C;ENSP00000361122:S137C;ENSP00000255121:S164C	.|ENSP00000345532:S403C	L|S	+|+	1|2	0|0	NASP|NASP	45852356|45852356	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.019000|0.019000	0.09904|0.09904	1.633000|1.633000	0.37113|0.37113	1.547000|1.547000	0.49401|0.49401	-0.169000|-0.169000	0.13324|0.13324	CTC|TCT	NASP	-	NULL		0.328	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	C	NM_002482	Missense_Mutation	46079769	1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	0.995	G	G	46079769	C	G	46079769	5	3	72	1	0	0	0	0	0	0	1	0	10195	927	32	1	1615	1	NASP	1	46079769	Splice_Site	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	22559698	46079769	203170852	4	10496										
NTRK1	4914	genome.wustl.edu	37	chr1	156849868	156849868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cgtaagttcaccaccgagagCgacgtgtggagcttcggcgt	14	11	1	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:156849868C>T	ENST00000524377.1	+	16	2165	c.2124C>T	c.(2122-2124)agC>agT	p.S708S	NTRK1_ENST00000368196.3_Silent_p.S702S|NTRK1_ENST00000392302.2_Silent_p.S672S|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Silent_p.S705S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACCGAGAGCGACGTGTGGA	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													91	84	86					1																	156849868		2203	4300	6503	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2124C>T	1.37:g.156849868C>T			B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.S708	ENST00000524377.1	37	c.2124	CCDS1161.1	1																																																																																			NTRK1	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	C	NM_002529		156849868	1	no_errors	ENST00000524377	ensembl	human	known	70_37	silent	SNP	0.974	T	T	156849868	C	T	156849868	2	4	72	1	0	0	0	0	0	0	0	1	10730	767	27	2		2	NTRK1	1	156849868	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	110770099	156849868	92400753	5	10497										
FCGR2A	2212	genome.wustl.edu	37	chr1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aaacataggctacacgctgtTctcatccaagcctgtgacca	7	13	1	1	rs141094947	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527													T|||	16	0.00319489	0.0076	0.0014	5008	,	,		20399	0		0.001	False		,,,				2504	0.0041																0													112	95	101					1																	161479832		2203	4300	6503	SO:0001583	missense	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.587T>A	1.37:g.161479832T>A	ENSP00000271450:p.Phe196Tyr		Q8WUN1|Q8WW64	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F196Y	ENST00000271450.6	37	c.587	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565357	0.00903	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12255	2.7;2.7	2.66	0.29	0.15728	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	17.507600	0.00166	N	0.000000	T	0.00815	0.0027	N	0.01257	-0.925	0.22142	N	0.999332	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34675	-0.9819	9	0.02654	T	1	.	2.2063	0.03936	0.5991:0.0:0.1472:0.2537	.	196;195	P12318;P12318-2	FCG2A_HUMAN;.	Y	195;196	ENSP00000356949:F195Y;ENSP00000271450:F196Y	ENSP00000271450:F196Y	F	+	2	0	FCGR2A	159746456	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.448000	0.21726	0.033000	0.15463	-0.390000	0.06520	TTC	FCGR2A	-	smart_Ig_sub,pfscan_Ig-like		0.527	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	T	NM_021642		161479832	1	no_errors	ENST00000271450	ensembl	human	known	70_37	missense	SNP	0.000	A	A	161479832	T	A	161479832	3	1	72	1	0	0	0	0	1	0	0	0	5799	1783	62	5	601	5	FCGR2A	1	161479832	Missense_Mutation	SNP	T	TCGA-EA-A3HR-01A-11D-A20U-09	4629964	161479832	87770789	6	10498										
RGL1	23179	genome.wustl.edu	37	chr1	183891454	183891454	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gagtacgagctggtgcaggtCatctcggaggacaaaggtgg	17	7	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:183891454C>G	ENST00000360851.3	+	17	2281	c.2103C>G	c.(2101-2103)gtC>gtG	p.V701V	RGL1_ENST00000536277.1_Silent_p.V699V|RGL1_ENST00000539189.1_Silent_p.V672V|RGL1_ENST00000304685.4_Silent_p.V736V			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	701	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGGTGCAGGTCATCTCGGAGG	0.582											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	62	71					1																	183891454		2203	4300	6503	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2103C>G	1.37:g.183891454C>G		1987	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V736	ENST00000360851.3	37	c.2208		1																																																																																			RGL1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.582	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	C	NM_015149		183891454	1	no_errors	ENST00000304685	ensembl	human	known	70_37	silent	SNP	1.000	G	G	183891454	C	G	183891454	2	3	72	1	0	0	0	0	0	0	0	1	13306	813	29	1		1	RGL1	1	183891454	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	22411622	183891454	65359167	7	10499										
USH2A	7399	genome.wustl.edu	37	chr1	216462695	216462695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gtttgcaaacatctatggccGaaggatctgcaccaacttgt	9	10	2	0	rs373190681		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:216462695G>A	ENST00000307340.3	-	11	2284	c.1898C>T	c.(1897-1899)tCg>tTg	p.S633L	USH2A_ENST00000366943.2_Missense_Mutation_p.S633L|USH2A_ENST00000366942.3_Missense_Mutation_p.S633L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	633	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATGGCCGAAGGATCTGC	0.408										HNSCC(13;0.011)			G|||	1	0.000199681	0	0.0014	5008	,	,		18835	0		0	False		,,,				2504	0																0								G	LEU/SER,LEU/SER	0,4406		0,0,2203	175	154	161		1898,1898	5.4	0.9	1		161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USH2A	NM_007123.5,NM_206933.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	633/1547,633/5203	216462695	1,13005	2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1898C>T	1.37:g.216462695G>A	ENSP00000305941:p.Ser633Leu		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S633L	ENST00000307340.3	37	c.1898	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987712	0.53934	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.21031	2.48;2.47;2.03	5.43	5.43	0.79202	EGF-like, laminin (3);	0.209202	0.23861	N	0.043842	T	0.31857	0.0810	M	0.62266	1.93	0.34013	D	0.65171	P;D	0.57571	0.873;0.98	B;P	0.46940	0.216;0.532	T	0.36744	-0.9735	10	0.34782	T	0.22	.	19.6173	0.95639	0.0:0.0:1.0:0.0	.	633;633	O75445-2;O75445	.;USH2A_HUMAN	L	633	ENSP00000305941:S633L;ENSP00000355910:S633L;ENSP00000355909:S633L	ENSP00000305941:S633L	S	-	2	0	USH2A	214529318	0.996000	0.38824	0.943000	0.38184	0.905000	0.53344	4.655000	0.61476	2.712000	0.92718	0.557000	0.71058	TCG	USH2A	-	smart_EGF_laminin		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		216462695	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.987	A	A	216462695	G	A	216462695	3	1	72	1	0	0	0	0	1	0	0	0	17067	1059	37	1	13972	1	USH2A	1	216462695	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	32571241	216462695	32787926	8	10500										
EPRS	2058	genome.wustl.edu	37	chr1	220151900	220151900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gaatttaccttgagctcccaGtgattgaatttccaacctgg	8	10	0	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:220151900G>T	ENST00000366923.3	-	28	4340	c.4071C>A	c.(4069-4071)caC>caA	p.H1357Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1357	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGAGCTCCCAGTGATTGAATT	0.368																																																	0													81	78	79					1																	220151900		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4071C>A	1.37:g.220151900G>T	ENSP00000355890:p.His1357Gln		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.H1357Q	ENST00000366923.3	37	c.4071	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804732	0.70682	.	.	ENSG00000136628	ENST00000366923	T	0.40476	1.03	5.83	3.65	0.41850	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.58428	1.81	0.51482	D	0.999929	D	0.89917	1.0	D	0.87578	0.998	T	0.59150	-0.7508	10	0.87932	D	0	-22.9917	9.3273	0.38001	0.2524:0.0:0.7476:0.0	.	1357	P07814	SYEP_HUMAN	Q	1357	ENSP00000355890:H1357Q	ENSP00000355890:H1357Q	H	-	3	2	EPRS	218218523	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.359000	0.44142	1.476000	0.48215	-0.218000	0.12543	CAC	EPRS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type		0.368	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220151900	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220151900	G	T	220151900	3	4	72	1	0	0	0	0	1	0	0	0	5203	1020	36	4	487	4	EPRS	1	220151900	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	3689205	220151900	29098721	9	10501										
EPRS	2058	genome.wustl.edu	37	chr1	220197645	220197645	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gtctatcctctgctcacgttCtgctttcatctgttcagcag	7	13	7	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:220197645C>T	ENST00000366923.3	-	8	1173	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	302	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGCTCACGTTCTGCTTTCATC	0.348																																																	0													112	99	103					1																	220197645		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.904G>A	1.37:g.220197645C>T	ENSP00000355890:p.Glu302Lys		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.E302K	ENST00000366923.3	37	c.904	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313650	0.81358	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.22743	1.94	5.38	5.38	0.77491	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.79475	2.455	0.80722	D	1	B;B;B;B	0.33022	0.234;0.243;0.005;0.394	B;P;B;B	0.44359	0.171;0.447;0.17;0.375	T	0.36720	-0.9736	10	0.87932	D	0	-23.2665	19.5538	0.95333	0.0:1.0:0.0:0.0	.	326;302;302;302	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	K	302;302;326	ENSP00000355890:E302K	ENSP00000355890:E302K	E	-	1	0	EPRS	218264268	1.000000	0.71417	0.953000	0.39169	0.598000	0.36846	7.522000	0.81844	2.705000	0.92388	0.479000	0.44913	GAA	EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk		0.348	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	C	NM_004446		220197645	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220197645	C	T	220197645	3	4	72	1	0	0	0	0	1	0	0	0	5203	922	32	1	3734	1	EPRS	1	220197645	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	45745	220197645	29052976	10	10502										
PREPL	9581	genome.wustl.edu	37	chr2	44549013	44549013	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	attgcctccaggctgaatatCtagaataatattaggggtct	9	7	2	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr2:44549013C>G	ENST00000409936.1	-	14	2484	c.2047G>C	c.(2047-2049)Gat>Cat	p.D683H	PREPL_ENST00000541738.1_Missense_Mutation_p.D594H|PREPL_ENST00000409957.1_Missense_Mutation_p.D594H|PREPL_ENST00000378511.3_Missense_Mutation_p.D621H|PREPL_ENST00000410081.1_Missense_Mutation_p.D683H|PREPL_ENST00000409272.1_Missense_Mutation_p.D683H|PREPL_ENST00000378520.3_Missense_Mutation_p.D617H|PREPL_ENST00000409411.1_Missense_Mutation_p.D594H|PREPL_ENST00000260648.6_Missense_Mutation_p.D683H	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	683						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCTGAATATCTAGAATAATA	0.408																																																	0													84	86	86					2																	44549013		2203	4300	6503	SO:0001583	missense	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2047G>C	2.37:g.44549013C>G	ENSP00000386543:p.Asp683His		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.D683H	ENST00000409936.1	37	c.2047	CCDS33190.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.364854|3.364854	0.61513|0.61513	.|.	.|.	ENSG00000138078|ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511|ENST00000420756	T;T;T;T;T;T;T;T;T|.	0.27720|.	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);|.	0.167251|.	0.51477|.	D|.	0.000084|.	T|.	0.56187|.	0.1968|.	L|L	0.28694|0.28694	0.88|0.88	0.54753|0.54753	D|D	0.999981|0.999981	D;B;D|.	0.89917|.	1.0;0.216;1.0|.	D;B;D|.	0.87578|.	0.998;0.188;0.99|.	T|.	0.51505|.	-0.8697|.	10|.	0.87932|.	D|.	0|.	-22.2421|-22.2421	16.4549|16.4549	0.84009|0.84009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621;617;683|.	Q4J6C6-3;Q4J6C6-2;Q4J6C6|.	.;.;PPCEL_HUMAN|.	H|Y	594;594;594;683;683;683;683;617;621|64	ENSP00000439626:D594H;ENSP00000387095:D594H;ENSP00000387241:D594H;ENSP00000386543:D683H;ENSP00000260648:D683H;ENSP00000386909:D683H;ENSP00000386509:D683H;ENSP00000367781:D617H;ENSP00000367772:D621H|.	ENSP00000260648:D683H|.	D|X	-|-	1|3	0|2	PREPL|PREPL	44402517|44402517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.101000|2.101000	0.41787|0.41787	2.534000|2.534000	0.85438|0.85438	0.591000|0.591000	0.81541|0.81541	GAT|TAG	PREPL	-	pfam_Peptidase_S9		0.408	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	C	NM_006036		44549013	-1	no_errors	ENST00000260648	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44549013	C	G	44549013	3	3	72	1	0	0	0	0	1	0	0	0	12502	913	32	1	144	1	PREPL	2	44549013	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		44549013	198650360	11	10503										
VPS54	51542	genome.wustl.edu	37	chr2	64147684	64147684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tttcttccacagatctgttcGgtgtctaaaatgaatgtttc	7	8	3	2	rs140360976		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr2:64147684G>A	ENST00000272322.4	-	14	2101	c.1947C>T	c.(1945-1947)acC>acT	p.T649T	VPS54_ENST00000354504.3_Silent_p.T496T|VPS54_ENST00000409558.4_Silent_p.T637T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	649					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGATCTGTTCGGTGTCTAAAA	0.333																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	98	99	99		1911,1947	3.1	1	2	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	VPS54	NM_001005739.1,NM_016516.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	637/966,649/978	64147684	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1947C>T	2.37:g.64147684G>A			Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.T649	ENST00000272322.4	37	c.1947	CCDS33208.1	2																																																																																			VPS54	-	NULL		0.333	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	G	NM_016516		64147684	-1	no_errors	ENST00000272322	ensembl	human	known	70_37	silent	SNP	0.999	A	A	64147684	G	A	64147684	2	1	72	1	0	0	0	0	0	0	0	1	17247	1103	39	2		2	VPS54	2	64147684	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	19598671	64147684	179051689	12	10504										
ITPR1	3708	genome.wustl.edu	37	chr3	4753522	4753522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ctacagaccctgagggaaatGatgaccaaagatagaggcta	11	8	0	6			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:4753522G>T	ENST00000443694.2	+	36	5028	c.5028G>T	c.(5026-5028)atG>atT	p.M1676I	ITPR1_ENST00000456211.2_Missense_Mutation_p.M1667I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1691I|ITPR1_ENST00000423119.2_Missense_Mutation_p.M1682I|ITPR1_ENST00000302640.8_Missense_Mutation_p.M1676I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1682I|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1691					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAGGGAAATGATGACCAAAG	0.408																																																	0													65	69	67					3																	4753522		1837	4052	5889	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5028G>T	3.37:g.4753522G>T	ENSP00000401671:p.Met1676Ile		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1676I	ENST00000443694.2	37	c.5028	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978233	0.92982	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;T;T;T;D	0.94931	-3.54;-3.56;0.17;0.17;0.17;-3.54	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97365	0.9138	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.997;0.966	D;P	0.75020	0.985;0.805	D	0.97549	1.0091	10	0.72032	D	0.01	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	1691;1682	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1691;1676;1691;1682;137;1682;1667;1676	ENSP00000306253:M1676I;ENSP00000346595:M1691I;ENSP00000405934:M1682I;ENSP00000349597:M1682I;ENSP00000397885:M1667I;ENSP00000401671:M1676I	ENSP00000306253:M1676I	M	+	3	0	ITPR1	4728522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.745000	0.98856	2.689000	0.91719	0.655000	0.94253	ATG	ITPR1	-	NULL		0.408	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4753522	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4753522	G	T	4753522	3	4	72	1	0	0	0	0	1	0	0	0	7940	1290	45	3	5219	3	ITPR1	3	4753522	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		4753522	193268908	13	10505										
XIRP1	165904	genome.wustl.edu	37	chr3	39226849	39226849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tggctgtatctctctcacctCgttggtgttctctttgcccc	8	14	3	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:39226849C>T	ENST00000340369.3	-	2	4316	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q	XIRP1_ENST00000421646.1_Missense_Mutation_p.R46Q|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1363					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCTCACCTCGTTGGTGTTC	0.587																																																	0													101	89	93					3																	39226849		2203	4300	6503	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4088G>A	3.37:g.39226849C>T	ENSP00000343140:p.Arg1363Gln		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R1363Q	ENST00000340369.3	37	c.4088	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023913	0.19433	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.16073	4.02;2.37	3.8	-7.61	0.01299	.	3.430940	0.00829	N	0.001657	T	0.04497	0.0123	N	0.02142	-0.665	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.28427	-1.0044	10	0.10377	T	0.69	.	2.8739	0.05625	0.1036:0.2183:0.4165:0.2616	.	1363	Q702N8	XIRP1_HUMAN	Q	1363;46	ENSP00000343140:R1363Q;ENSP00000391645:R46Q	ENSP00000343140:R1363Q	R	-	2	0	XIRP1	39201853	0.026000	0.19158	0.009000	0.14445	0.045000	0.14185	-0.059000	0.11731	-1.543000	0.01723	-0.150000	0.13652	CGA	XIRP1	-	NULL		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39226849	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	missense	SNP	0.010	T	T	39226849	C	T	39226849	3	4	72	1	0	0	0	0	1	0	0	0	17460	884	31	1	1447	1	XIRP1	3	39226849	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	34473327	39226849	158795581	14	10506										
MYRIP	25924	genome.wustl.edu	37	chr3	40275497	40275497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aggggatgtttcctcgtgggAcagaccaagtgagactggat	15	7	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:40275497A>G	ENST00000302541.6	+	12	2395	c.2053A>G	c.(2053-2055)Aca>Gca	p.T685A	MYRIP_ENST00000539167.1_Missense_Mutation_p.T498A|MYRIP_ENST00000396217.3_Missense_Mutation_p.T596A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000444716.1_Missense_Mutation_p.T685A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	685	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTCGTGGGACAGACCAAGT	0.522																																																	0													79	69	73					3																	40275497		2203	4300	6503	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2053A>G	3.37:g.40275497A>G	ENSP00000301972:p.Thr685Ala		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.T685A	ENST00000302541.6	37	c.2053	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	A	17.80	3.479310	0.63849	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	6.06	4.91	0.64330	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.121470	0.56097	D	0.000021	T	0.27663	0.0680	L	0.39020	1.185	0.29268	N	0.87088	P;P	0.41978	0.767;0.558	B;P	0.50082	0.394;0.63	T	0.09885	-1.0654	9	.	.	.	.	7.5998	0.28069	0.8382:0.0:0.1618:0.0	.	596;685	Q32M42;Q8NFW9	.;MYRIP_HUMAN	A	685;685;596;498	ENSP00000398665:T685A;ENSP00000301972:T685A;ENSP00000379519:T596A;ENSP00000438297:T498A	.	T	+	1	0	MYRIP	40250501	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.042000	0.49815	1.121000	0.41925	0.533000	0.62120	ACA	MYRIP	-	pfam_Myrip/Melanophilin		0.522	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	A	NM_015460		40275497	1	no_errors	ENST00000302541	ensembl	human	known	70_37	missense	SNP	0.995	G	G	40275497	A	G	40275497	3	3	72	1	0	0	0	0	1	0	0	0	10123	275	10	5	2095	5	MYRIP	3	40275497	Missense_Mutation	SNP	A	TCGA-EA-A3HR-01A-11D-A20U-09	1048648	40275497	157746933	15	10507										
NPRL2	10641	genome.wustl.edu	37	chr3	50386315	50386315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gatggcatacttgttgtgtaGtgaggtcccactgtgagttg	14	6	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:50386315G>T	ENST00000232501.3	-	5	1013	c.575C>A	c.(574-576)aCt>aAt	p.T192N	CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	192					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TTGTTGTGTAGTGAGGTCCCA	0.552																																																	0													150	137	141					3																	50386315		2203	4300	6503	SO:0001583	missense	10641			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.575C>A	3.37:g.50386315G>T	ENSP00000232501:p.Thr192Asn		A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	pfam_NPR2	p.T192N	ENST00000232501.3	37	c.575	CCDS2826.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288276	0.80803	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89518	0.3776	9	0.72032	D	0.01	-7.8091	19.1282	0.93394	0.0:0.0:1.0:0.0	.	192	Q8WTW4	NPRL2_HUMAN	N	192	.	ENSP00000232501:T192N	T	-	2	0	NPRL2	50361319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.519000	0.84933	0.655000	0.94253	ACT	NPRL2	-	pfam_NPR2		0.552	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPRL2	HGNC	protein_coding	OTTHUMT00000346299.1	G	NM_006545		50386315	-1	no_errors	ENST00000232501	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50386315	G	T	50386315	3	4	72	1	0	0	0	0	1	0	0	0	10621	1029	36	4	595	4	NPRL2	3	50386315	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	10110818	50386315	147636115	16	10508										
FAM55C	91775	genome.wustl.edu	37	chr3	101540356	101540356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ctgccatggtccacccatccGcttcacgactgtctttagca	7	16	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:101540356G>A	ENST00000491511.2	+	8	2194	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	NXPE3_ENST00000422132.1_Missense_Mutation_p.R413H|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000477909.1_Missense_Mutation_p.R413H|NXPE3_ENST00000273347.5_Missense_Mutation_p.R413H	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	413						extracellular region (GO:0005576)											CCACCCATCCGCTTCACGACT	0.507																																																	0													131	99	110					3																	101540356		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1238G>A	3.37:g.101540356G>A	ENSP00000417485:p.Arg413His		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.R413H	ENST00000491511.2	37	c.1238	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260456	0.80246	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.83	5.83	0.93111	.	0.045500	0.85682	N	0.000000	T	0.25457	0.0619	M	0.79475	2.455	0.80722	D	1	D	0.58268	0.982	B	0.41571	0.36	T	0.14587	-1.0467	10	0.16896	T	0.51	-13.1599	20.1162	0.97934	0.0:0.0:1.0:0.0	.	413	Q969Y0	FA55C_HUMAN	H	413	ENSP00000273347:R413H;ENSP00000417485:R413H;ENSP00000418369:R413H;ENSP00000396421:R413H	ENSP00000273347:R413H	R	+	2	0	FAM55C	103023046	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.974000	0.88039	2.756000	0.94617	0.655000	0.94253	CGC	NXPE3	-	NULL		0.507	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	G	NM_145037		101540356	1	no_errors	ENST00000273347	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101540356	G	A	101540356	3	1	72	1	0	0	0	0	1	0	0	0	5604	1087	38	2	1256	2	FAM55C	3	101540356	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	51154041	101540356	96482074	17	10509										
DHX36	170506	genome.wustl.edu	37	chr3	154018864	154018864	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ttgtctatttacatgcccttGcatgaaacccctcttaaact	4	12	2	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:154018864G>A	ENST00000496811.1	-	10	1350	c.1270C>T	c.(1270-1272)Caa>Taa	p.Q424*	DHX36_ENST00000329463.5_Nonsense_Mutation_p.Q424*|DHX36_ENST00000544526.1_Nonsense_Mutation_p.Q424*|DHX36_ENST00000308361.6_Nonsense_Mutation_p.Q424*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	424					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACATGCCCTTGCATGAAACCC	0.328																																																	0													96	100	99					3																	154018864		2203	4300	6503	SO:0001587	stop_gained	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1270C>T	3.37:g.154018864G>A	ENSP00000417078:p.Gln424*		B2RB00|Q70JU3|Q8IYE5|Q9P240	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q424*	ENST00000496811.1	37	c.1270	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.882374	0.98542	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.	.	.	5.73	5.73	0.89815	.	0.096778	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	.	.	.	X	424;424;424;424;338	.	ENSP00000309296:Q424X	Q	-	1	0	DHX36	155501558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.965000	0.87945	2.712000	0.92718	0.557000	0.71058	CAA	DHX36	-	NULL		0.328	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	G	NM_020865		154018864	-1	no_errors	ENST00000496811	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	154018864	G	A	154018864	4	1	72	1	0	0	0	0	0	1	0	0	4519	1328	46	4	1820	4	DHX36	3	154018864	Nonsense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	52478508	154018864	44003566	18	10510										
POLN	353497	genome.wustl.edu	37	chr4	2160903	2160903	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tgcctgtattccaaaattatCttgggtaatggatgaaggtc	10	6	1	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:2160903C>A	ENST00000511885.2	-	14	1943	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.K530N			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	530					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAAAATTATCTTGGGTAATG	0.353								DNA polymerases (catalytic subunits)																																									0													101	101	101					4																	2160903		2203	4300	6503	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1590G>T	4.37:g.2160903C>A	ENSP00000435506:p.Lys530Asn		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.K530N	ENST00000511885.2	37	c.1590	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.966812|1.966812	0.34659|0.34659	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313|ENST00000511098	T;T|.	0.24723|.	1.84;1.84|.	4.45|4.45	2.67|2.67	0.31697|0.31697	DNA-directed DNA polymerase, family A, palm domain (1);|.	0.169443|.	0.48767|.	D|.	0.000163|.	T|T	0.57359|0.57359	0.2048|0.2048	L|L	0.57536|0.57536	1.79|1.79	0.37208|0.37208	D|D	0.904681|0.904681	D;B|.	0.57571|.	0.98;0.221|.	P;B|.	0.55615|.	0.78;0.216|.	T|T	0.57470|0.57470	-0.7806|-0.7806	10|5	0.66056|.	D|.	0.02|.	-13.6421|-13.6421	6.4806|6.4806	0.22061|0.22061	0.0:0.7686:0.0:0.2314|0.0:0.7686:0.0:0.2314	.|.	530;530|.	E7ERY2;Q7Z5Q5|.	.;DPOLN_HUMAN|.	N|I	530;530;221|163	ENSP00000435506:K530N;ENSP00000372316:K530N|.	ENSP00000253313:K221N|.	K|R	-|-	3|2	2|0	POLN|POLN	2130701|2130701	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	1.176000|1.176000	0.31957|0.31957	0.584000|0.584000	0.29591|0.29591	0.650000|0.650000	0.86243|0.86243	AAG|AGA	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom		0.353	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	C	NM_181808		2160903	-1	no_errors	ENST00000382865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2160903	C	A	2160903	3	1	72	1	0	0	0	0	1	0	0	0	12231	912	32	3	1164	3	POLN	4	2160903	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		2160903	188993373	19	10511										
WDR19	57728	genome.wustl.edu	37	chr4	39205309	39205309	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	atgcagtttttcttgatgaaGatggatgaccgaacctctgc	10	8	2	4			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:39205309G>C	ENST00000399820.3	+	7	724	c.570G>C	c.(568-570)aaG>aaC	p.K190N	WDR19_ENST00000288634.7_Missense_Mutation_p.K30N|WDR19_ENST00000506503.1_Missense_Mutation_p.K190N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	190					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TCTTGATGAAGATGGATGACC	0.348																																																	0													101	93	96					4																	39205309		1886	4110	5996	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.570G>C	4.37:g.39205309G>C	ENSP00000382717:p.Lys190Asn		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.K190N	ENST00000399820.3	37	c.570	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796796	0.31777	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000512112;ENST00000288634;ENST00000506503;ENST00000399836	T;T;T;T	0.69040	-0.33;1.91;-0.37;0.99	5.64	4.8	0.61643	WD40 repeat-like-containing domain (1);	0.177910	0.64402	D	0.000012	T	0.71358	0.3330	M	0.79123	2.44	0.50039	D	0.999848	B;P	0.39737	0.212;0.685	B;B	0.42282	0.13;0.382	T	0.76187	-0.3051	10	0.72032	D	0.01	-6.8213	14.86	0.70372	0.0691:0.0:0.9309:0.0	.	190;190	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	N	190;131;30;30;190;189	ENSP00000382717:K190N;ENSP00000426918:K131N;ENSP00000288634:K30N;ENSP00000423491:K190N	ENSP00000288634:K30N	K	+	3	2	WDR19	38881704	1.000000	0.71417	0.080000	0.20451	0.142000	0.21351	6.113000	0.71553	1.524000	0.49035	-0.259000	0.10710	AAG	WDR19	-	superfamily_WD40_repeat_dom		0.348	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	G			39205309	1	no_errors	ENST00000399820	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39205309	G	C	39205309	3	2	72	1	0	0	0	0	1	0	0	0	17310	933	33	1	596	1	WDR19	4	39205309	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	37044406	39205309	151948967	20	10512										
DCHS2	54798	genome.wustl.edu	37	chr4	155180783	155180783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gcatggtgaattatcattctCatcctgtatcaagactgcta	7	9	3	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:155180783C>T	ENST00000357232.4	-	20	5337	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1780	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTATCATTCTCATCCTGTATC	0.383																																																	0													202	179	186					4																	155180783		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5338G>A	4.37:g.155180783C>T	ENSP00000349768:p.Glu1780Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1780K	ENST00000357232.4	37	c.5338	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	12.23	1.877014	0.33162	.	.	ENSG00000197410	ENST00000357232	T	0.61274	0.12	5.52	-0.46	0.12175	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	1.139660	0.06454	N	0.728217	T	0.40322	0.1112	L	0.42744	1.35	0.33168	D	0.547898	B	0.14805	0.011	B	0.14023	0.01	T	0.43956	-0.9359	10	0.06494	T	0.89	.	2.5415	0.04727	0.1181:0.4478:0.2298:0.2043	.	1780	Q6V1P9	PCD23_HUMAN	K	1780	ENSP00000349768:E1780K	ENSP00000349768:E1780K	E	-	1	0	DCHS2	155400233	0.915000	0.31059	0.096000	0.21009	0.727000	0.41649	0.072000	0.14617	-0.113000	0.11958	0.655000	0.94253	GAG	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155180783	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.656	T	T	155180783	C	T	155180783	3	4	72	1	0	0	0	0	1	0	0	0	4293	835	29	1	3436	1	DCHS2	4	155180783	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	115975474	155180783	35973493	21	10513										
FAT1	2195	genome.wustl.edu	37	chr4	187531024	187531025	+	Frame_Shift_Del	DEL	AG	AG	-													0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	taggtgtcttggctgaacacAggggtattatcgttgatatc							TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:187531024_187531025delAG	ENST00000441802.2	-	15	10207_10208	c.9998_9999delCT	c.(9997-9999)cctfs	p.P3333fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3333	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTGAACACAGGGGTATTATC	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9998_9999delCT	4.37:g.187531024_187531025delAG	ENSP00000406229:p.Pro3333fs			Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P3333fs	ENST00000441802.2	37	c.9999_9998	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	AG	NM_005245		187531025	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_del	DEL	0.024:1.000	-	-	187531025	AG	-	187531024	7	5	72	1	0	1	0	1	0	0	0	0	5707	175	7	0	3819	0	FAT1	4	187531024	Frame_Shift_Del	DEL	AG	TCGA-EA-A3HR-01A-11D-A20U-09	32350241	187531024	3623252	22	10514										
HTR1A	3350	genome.wustl.edu	37	chr5	63257121	63257121	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gtcctcttgttcacgtagtcGatggggtccgtgatggccca	13	11	2	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:63257121G>A	ENST00000323865.3	-	1	659	c.426C>T	c.(424-426)atC>atT	p.I142I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	142					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCACGTAGTCGATGGGGTCCG	0.632																																																	0													77	78	78					5																	63257121		2203	4300	6503	SO:0001819	synonymous_variant	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.426C>T	5.37:g.63257121G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.I142	ENST00000323865.3	37	c.426	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257121	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	silent	SNP	0.707	A	A	63257121	G	A	63257121	2	1	72	1	0	0	0	0	0	0	0	1	7456	1048	37	1		1	HTR1A	5	63257121	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		63257121	117658139	23	10515										
PCDHB13	56123	genome.wustl.edu	37	chr5	140594526	140594526	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gacacaggagtcaacggagaGatttcctattcacttttcca	8	10	2	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:140594526G>A	ENST00000341948.4	+	1	1018	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	277	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAACGGAGAGATTTCCTATT	0.443																																																	0													132	132	132					5																	140594526		2203	4300	6503	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.831G>A	5.37:g.140594526G>A			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E277	ENST00000341948.4	37	c.831	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.443	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	G	NM_018933		140594526	1	no_errors	ENST00000341948	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140594526	G	A	140594526	2	1	72	1	0	0	0	0	0	0	0	1	11562	933	33	1		1	PCDHB13	5	140594526	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	77337405	140594526	40320734	24	10516										
SH3RF2	153769	genome.wustl.edu	37	chr5	145317770	145317770	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tccttccgcaggcctggcacGatgaccttgcaggatggcag	13	13	0	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:145317770G>T	ENST00000511217.1	+	1	331	c.279G>T	c.(277-279)acG>acT	p.T93T	SH3RF2_ENST00000359120.4_Silent_p.T93T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	93					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTGGCACGATGACCTTGC	0.632																																																	0													51	52	51					5																	145317770		2203	4300	6503	SO:0001819	synonymous_variant	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.279G>T	5.37:g.145317770G>T			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.T93	ENST00000511217.1	37	c.279	CCDS4280.1	5																																																																																			SH3RF2	-	NULL		0.632	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	G	NM_152550		145317770	1	no_errors	ENST00000359120	ensembl	human	known	70_37	silent	SNP	0.320	T	T	145317770	G	T	145317770	2	4	72	1	0	0	0	0	0	0	0	1	14289	1045	37	3		3	SH3RF2	5	145317770	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	4723244	145317770	35597490	25	10517										
OR12D3	81797	genome.wustl.edu	37	chr6	29342268	29342268	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ttatccggtcctgaatcatgGaggtggctgaagcaggacga	14	8	1	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:29342268G>C	ENST00000396806.3	-	1	800	c.797C>G	c.(796-798)tCc>tGc	p.S266C	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTGAATCATGGAGGTGGCTGA	0.483																																																	0													93	86	89					6																	29342268		1510	2707	4217	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.797C>G	6.37:g.29342268G>C	ENSP00000380023:p.Ser266Cys		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S266C	ENST00000396806.3	37	c.797	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103317	0.20632	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00279	8.33	4.19	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.16897	-1.0387	9	0.87932	D	0	-6.1152	12.3559	0.55176	0.1583:0.0:0.8417:0.0	.	266	Q9UGF7	O12D3_HUMAN	C	266	ENSP00000380023:S266C	ENSP00000366348:S266C	S	-	2	0	OR12D3	29450247	0.116000	0.22171	0.001000	0.08648	0.278000	0.26855	1.670000	0.37502	0.086000	0.17137	-1.021000	0.02439	TCC	OR12D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	HGNC	protein_coding	OTTHUMT00000076056.3	G			29342268	-1	no_errors	ENST00000377143	ensembl	human	known	70_37	missense	SNP	0.000	C	C	29342268	G	C	29342268	3	2	72	1	0	0	0	0	1	0	0	0	10956	1174	41	1	157	1	OR12D3	6	29342268	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		29342268	141772799	26	10518										
TAPBP	6892	genome.wustl.edu	37	chr6	33272198	33272198	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ggcggctgcaagtgcccagaGaggctgacagagccatcgga	16	11	0	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:33272198G>A	ENST00000489157.1	-	4	1037	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TAPBP_ENST00000426633.2_Silent_p.L362L|TAPBP_ENST00000475304.1_Silent_p.L380L|TAPBP_ENST00000456592.2_Silent_p.L362L|TAPBP_ENST00000434618.2_Silent_p.L362L			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	362					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGTGCCCAGAGAGGCTGACAG	0.687																																																	0													32	34	33					6																	33272198		2201	4296	6497	SO:0001819	synonymous_variant	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.825C>T	6.37:g.33272198G>A			A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Silent	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.L362	ENST00000489157.1	37	c.1086	CCDS34427.2	6																																																																																			TAPBP	-	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin		0.687	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33272198	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	silent	SNP	0.999	A	A	33272198	G	A	33272198	2	1	72	1	0	0	0	0	0	0	0	1	15582	929	33	1		1	TAPBP	6	33272198	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	3929930	33272198	137842869	27	10519										
TAPBP	6892	genome.wustl.edu	37	chr6	33273056	33273056	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ggggacccggagccagagatGaggcggcctcggaggtgggg	22	9	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:33273056G>C	ENST00000489157.1	-	3	529	c.317C>G	c.(316-318)tCa>tGa	p.S106*	TAPBP_ENST00000426633.2_Nonsense_Mutation_p.S193*|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.S211*|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.S193*|TAPBP_ENST00000434618.2_Nonsense_Mutation_p.S193*			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	193					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGCCAGAGATGAGGCGGCCTC	0.637																																																	0													29	32	31					6																	33273056		2203	4300	6503	SO:0001587	stop_gained	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.317C>G	6.37:g.33273056G>C	ENSP00000419659:p.Ser106*		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.S193*	ENST00000489157.1	37	c.578	CCDS34427.2	6	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861269	0.71949	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	.	.	.	4.79	4.79	0.61399	.	1.934720	0.02899	N	0.135187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.3153	13.2013	0.59769	0.0:0.0:1.0:0.0	.	.	.	.	X	193;211;106;193;193;193;193;136	.	ENSP00000404833:S193X	S	-	2	0	TAPBP	33381034	0.000000	0.05858	0.091000	0.20842	0.536000	0.34869	0.713000	0.25794	2.488000	0.83962	0.549000	0.68633	TCA	TAPBP	-	NULL		0.637	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33273056	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	nonsense	SNP	0.231	C	C	33273056	G	C	33273056	4	2	72	1	0	0	0	0	0	1	0	0	15582	1294	45	1	968	1	TAPBP	6	33273056	Nonsense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	858	33273056	137842011	28	10520										
DNAH8	1769	genome.wustl.edu	37	chr6	38919178	38919178	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aagtacacagaaccagttatCttaaatctggagaaaacttg	7	7	2	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:38919178C>G	ENST00000359357.3	+	80	11936	c.11682C>G	c.(11680-11682)atC>atG	p.I3894M	DNAH8_ENST00000441566.1_Missense_Mutation_p.I3858M|DNAH8_ENST00000449981.2_Missense_Mutation_p.I4111M|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3894	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCAGTTATCTTAAATCTGG	0.418																																																	0													177	188	185					6																	38919178		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11682C>G	6.37:g.38919178C>G	ENSP00000352312:p.Ile3894Met		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I3894M	ENST00000359357.3	37	c.11682		6	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243916	0.58995	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08282	3.11;3.11;3.11	5.6	5.6	0.85130	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.70275	2.135	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.00444	-1.1735	10	0.45353	T	0.12	.	8.0653	0.30657	0.1499:0.7414:0.0:0.1087	.	3858;3894	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	M	4099;4099;3894;3858	ENSP00000333363:I4099M;ENSP00000352312:I3894M;ENSP00000402294:I3858M	ENSP00000333363:I4099M	I	+	3	3	DNAH8	39027156	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	0.947000	0.29082	2.791000	0.96007	0.655000	0.94253	ATC	DNAH8	-	pfam_Dynein_heavy_dom		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38919178	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38919178	C	G	38919178	3	3	72	1	0	0	0	0	1	0	0	0	4617	903	32	1	11992	1	DNAH8	6	38919178	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	5646122	38919178	132195889	29	10521										
SUPT3H	8464	genome.wustl.edu	37	chr6	44988298	44988298	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	attaccttatctttgcgcatCaaaaacagaagatcttcagg	6	9	4	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:44988298C>T	ENST00000371459.1	-	4	423	c.258G>A	c.(256-258)ttG>ttA	p.L86L	SUPT3H_ENST00000306867.5_Silent_p.L86L|SUPT3H_ENST00000371460.1_Silent_p.L97L|SUPT3H_ENST00000371461.2_Silent_p.L97L	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	168					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CTTTGCGCATCAAAAACAGAA	0.318																																																	0													52	54	53					6																	44988298		2203	4298	6501	SO:0001819	synonymous_variant	8464			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.258G>A	6.37:g.44988298C>T			A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	pfam_TFIID-18,superfamily_Histone-fold	p.L97	ENST00000371459.1	37	c.291	CCDS34465.1	6																																																																																			SUPT3H	-	pfam_TFIID-18		0.318	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT3H	HGNC	protein_coding	OTTHUMT00000106911.2	C	NM_181356		44988298	-1	no_errors	ENST00000371460	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44988298	C	T	44988298	2	4	72	1	0	0	0	0	0	0	0	1	15427	825	29	1		1	SUPT3H	6	44988298	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	6069120	44988298	126126769	30	10522										
COL12A1	1303	genome.wustl.edu	37	chr6	75893849	75893849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	catggcaatcaaatttgaagGaggctcaacaactaaaaagt	8	7	2	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:75893849G>A	ENST00000322507.8	-	9	1318	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P337S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P337S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	337	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATTTGAAGGAGGCTCAACA	0.378																																																	0													41	38	39					6																	75893849		1851	4098	5949	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1009C>T	6.37:g.75893849G>A	ENSP00000325146:p.Pro337Ser		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P337S	ENST00000322507.8	37	c.1009	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113807	0.37339	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.16743	2.32;2.32;2.32	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.084405	0.50627	D	0.000114	T	0.24084	0.0583	M	0.89715	3.055	0.36057	D	0.841141	P	0.44946	0.846	B	0.43386	0.418	T	0.26916	-1.0089	10	0.48119	T	0.1	.	16.8118	0.85722	0.0:0.1283:0.8717:0.0	.	337	Q99715	COCA1_HUMAN	S	337	ENSP00000325146:P337S;ENSP00000412864:P337S;ENSP00000421216:P337S	ENSP00000325146:P337S	P	-	1	0	COL12A1	75950569	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.762000	0.62250	2.678000	0.91216	0.655000	0.94253	CCT	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75893849	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75893849	G	A	75893849	3	1	72	1	0	0	0	0	1	0	0	0	3674	1174	41	1	8414	1	COL12A1	6	75893849	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	30905551	75893849	95221218	31	10523										
SYNE1	23345	genome.wustl.edu	37	chr6	152763321	152763321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	agccccccttctccctgctgCgcctgcgcgatctgctgctg	10	19	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000413186.2_Silent_p.A1299A|SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000448038.1_Silent_p.A1306A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A1299A(2)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567										HNSCC(10;0.0054)																																							3	Substitution - coding silent(3)	lung(3)											76	68	71					6																	152763321		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3897G>A	6.37:g.152763321C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A1299	ENST00000367255.5	37	c.3897	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152763321	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.002	T	T	152763321	C	T	152763321	2	4	72	1	0	0	0	0	0	0	0	1	15475	755	27	2		2	SYNE1	6	152763321	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	76869472	152763321	18351746	32	10524										
TULP4	56995	genome.wustl.edu	37	chr6	158873197	158873197	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gcatatcccatcccagtgcaGaacatcaagcctctgctcac	6	16	3	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:158873197G>C	ENST00000367097.3	+	5	2113	c.756G>C	c.(754-756)caG>caC	p.Q252H	TULP4_ENST00000367094.2_Missense_Mutation_p.Q252H	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	252					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCCCAGTGCAGAACATCAAGC	0.537																																																	0													186	155	165					6																	158873197		2203	4300	6503	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.756G>C	6.37:g.158873197G>C	ENSP00000356064:p.Gln252His		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q252H	ENST00000367097.3	37	c.756	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767433	0.31320	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03272	3.99;3.99	5.73	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112563	0.64402	D	0.000008	T	0.01189	0.0039	N	0.24115	0.695	0.40082	D	0.976144	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.51036	-0.8756	10	0.29301	T	0.29	-28.888	10.9447	0.47294	0.1425:0.0:0.8575:0.0	.	252;252;252	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	H	252	ENSP00000356064:Q252H;ENSP00000356061:Q252H	ENSP00000356061:Q252H	Q	+	3	2	TULP4	158793185	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.780000	0.47742	1.436000	0.47453	0.655000	0.94253	CAG	TULP4	-	superfamily_WD40_repeat_dom		0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	G	NM_020245		158873197	1	no_errors	ENST00000367097	ensembl	human	known	70_37	missense	SNP	1.000	C	C	158873197	G	C	158873197	3	2	72	1	0	0	0	0	1	0	0	0	16807	933	33	1	774	1	TULP4	6	158873197	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	6109876	158873197	12241870	33	10525										
OGDH	4967	genome.wustl.edu	37	chr7	44736558	44736558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tggggaaatggtgaagaaccGgactgtggactgggctctag	17	6	1	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:44736558G>A	ENST00000222673.5	+	15	1988	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	OGDH_ENST00000543843.1_Missense_Mutation_p.R600Q|OGDH_ENST00000447398.1_Missense_Mutation_p.R660Q|OGDH_ENST00000439616.2_Missense_Mutation_p.R499Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R664Q|OGDH_ENST00000449767.1_Missense_Mutation_p.R645Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	649					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTGAAGAACCGGACTGTGGAC	0.627																																																	0													102	77	85					7																	44736558		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1946G>A	7.37:g.44736558G>A	ENSP00000222673:p.Arg649Gln		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R649Q	ENST00000222673.5	37	c.1946	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065026	0.76187	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	N	0.03608	-0.345	0.58432	D	0.999998	B;B;B;B;B;B	0.31989	0.178;0.178;0.35;0.35;0.094;0.35	B;B;B;B;B;B	0.28139	0.086;0.036;0.086;0.086;0.06;0.086	T	0.78635	-0.2127	10	0.30854	T	0.27	-25.8679	17.7956	0.88568	0.0:0.0:1.0:0.0	.	444;499;645;660;551;649	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	Q	499;645;660;664;649;600	ENSP00000398576:R499Q;ENSP00000392878:R645Q;ENSP00000388183:R660Q;ENSP00000414662:R664Q;ENSP00000222673:R649Q;ENSP00000443821:R600Q	ENSP00000222673:R649Q	R	+	2	0	OGDH	44703083	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	9.652000	0.98499	2.492000	0.84095	0.650000	0.86243	CGG	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.627	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44736558	1	no_errors	ENST00000222673	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44736558	G	A	44736558	3	1	72	1	0	0	0	0	1	0	0	0	10863	1116	39	2	2173	2	OGDH	7	44736558	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		44736558	114402105	34	10526										
WBSCR17	64409	genome.wustl.edu	37	chr7	70597809	70597809	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	atggcttcactgagaagagtCaaagtgctgttggtgttgaa	13	5	2	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:70597809C>G	ENST00000333538.5	+	1	655	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	7					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGAAGAGTCAAAGTGCTGT	0.692																																																	0													62	56	58					7																	70597809		2198	4299	6497	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.21C>G	7.37:g.70597809C>G			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V7	ENST00000333538.5	37	c.21	CCDS5540.1	7																																																																																			WBSCR17	-	NULL		0.692	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		70597809	1	no_errors	ENST00000333538	ensembl	human	known	70_37	silent	SNP	1.000	G	G	70597809	C	G	70597809	2	3	72	1	0	0	0	0	0	0	0	1	17295	813	29	1		1	WBSCR17	7	70597809	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	25861251	70597809	88540854	35	10527										
SPDYE3	441272	genome.wustl.edu	37	chr7	99917593	99917593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	agcactgggtgtgggcgcgaGatcgcgcccacctttcctag	14	13	0	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:99917593G>A	ENST00000332397.6	+	10	1814	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582																																																	1	Substitution - Missense(1)	NS(1)											13	20	17					7																	99917593		1254	2302	3556	SO:0001583	missense	441272			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1630G>A	7.37:g.99917593G>A	ENSP00000329565:p.Asp544Asn		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.D544N	ENST00000332397.6	37	c.1630	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005052	0.35415	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	0.185	0.15096	.	0.093080	0.44097	D	0.000488	T	0.46034	0.1372	M	0.70903	2.155	0.09310	N	1	.	.	.	.	.	.	T	0.39702	-0.9601	6	0.59425	D	0.04	.	.	.	.	.	.	.	.	N	544;167	.	ENSP00000329565:D544N	D	+	1	0	SPDYE3	99755529	0.996000	0.38824	0.021000	0.16686	0.021000	0.10359	1.061000	0.30542	0.293000	0.22520	0.298000	0.19748	GAT	SPDYE3	-	pfam_Cell_cycle_regulatory_Spy1		0.582	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	G	NM_001004351		99917593	1	no_errors	ENST00000332397	ensembl	human	known	70_37	missense	SNP	0.025	A	A	99917593	G	A	99917593	3	1	72	1	0	0	0	0	1	0	0	0	15060	942	33	1	1668	1	SPDYE3	7	99917593	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	29319784	99917593	59221070	36	10528										
FBXL13	222235	genome.wustl.edu	37	chr7	102604086	102604086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	actatatatttatctggaatCacatttttcactgaggaaaa	5	6	3	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:102604086C>T	ENST00000313221.4	-	8	1044	c.618G>A	c.(616-618)gtG>gtA	p.V206V	FBXL13_ENST00000436908.1_Silent_p.V206V|FBXL13_ENST00000456695.1_Silent_p.V206V|FBXL13_ENST00000379308.3_Silent_p.V206V|FBXL13_ENST00000379306.3_Silent_p.V206V|FBXL13_ENST00000455112.2_Silent_p.V206V|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000393772.2_Silent_p.V206V|FBXL13_ENST00000379305.3_Silent_p.V206V	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	206										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TATCTGGAATCACATTTTTCA	0.323																																																	0													64	68	67					7																	102604086		2203	4300	6503	SO:0001819	synonymous_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.618G>A	7.37:g.102604086C>T			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.V206	ENST00000313221.4	37	c.618	CCDS5726.1	7																																																																																			FBXL13	-	NULL		0.323	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	C	NM_145032		102604086	-1	no_errors	ENST00000313221	ensembl	human	known	70_37	silent	SNP	0.000	T	T	102604086	C	T	102604086	2	4	72	1	0	0	0	0	0	0	0	1	5727	813	29	1		1	FBXL13	7	102604086	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	2686493	102604086	56534577	37	10529										
CSMD1	64478	genome.wustl.edu	37	chr8	3081281	3081281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tcaaggcgatgacaaagtccGggttcacttttactctccag	9	11	3	1	rs571113460		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr8:3081281G>A	ENST00000520002.1	-	29	5012	c.4457C>T	c.(4456-4458)cCg>cTg	p.P1486L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P1486L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1486L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1486L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACAAAGTCCGGGTTCACTTT	0.433													G|||	1	0.000199681	0	0	5008	,	,		16331	0.001		0	False		,,,				2504	0																0													106	106	106					8																	3081281		1861	4091	5952	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4457C>T	8.37:g.3081281G>A	ENSP00000430733:p.Pro1486Leu		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P1486L	ENST00000520002.1	37	c.4457		8	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121750	0.56613	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.08	5.08	0.68730	CUB (5);	0.076509	0.52532	D	0.000072	T	0.46964	0.1420	M	0.65498	2.005	0.80722	D	1	D;B;D	0.89917	1.0;0.355;0.975	D;B;P	0.91635	0.999;0.146;0.491	T	0.37888	-0.9686	10	0.48119	T	0.1	.	18.8339	0.92153	0.0:0.0:1.0:0.0	.	1486;1486;1486	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1486;1486;1348;1485;1485;1485	ENSP00000383047:P1486L;ENSP00000430733:P1486L;ENSP00000441462:P1485L;ENSP00000446243:P1485L;ENSP00000441675:P1485L	ENSP00000320445:P1348L	P	-	2	0	CSMD1	3068688	1.000000	0.71417	0.942000	0.38095	0.976000	0.68499	5.303000	0.65738	2.508000	0.84585	0.650000	0.86243	CCG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3081281	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.999	A	A	3081281	G	A	3081281	3	1	72	1	0	0	0	0	1	0	0	0	3949	1116	39	2	6412	2	CSMD1	8	3081281	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		3081281	143282741	38	10530										
XKR4	114786	genome.wustl.edu	37	chr8	56015801	56015801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tctgcgtcctgctccttctgCatctggctcctgcagtcact	8	16	4	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr8:56015801C>T	ENST00000327381.6	+	1	853	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	251						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCTTCTGCATCTGGCTCC	0.607																																																	0													61	64	63					8																	56015801		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.753C>T	8.37:g.56015801C>T			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.C251	ENST00000327381.6	37	c.753	CCDS34893.1	8																																																																																			XKR4	-	pfam_Transport_prot_XK		0.607	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56015801	1	no_errors	ENST00000327381	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56015801	C	T	56015801	2	4	72	1	0	0	0	0	0	0	0	1	17464	718	25	4		4	XKR4	8	56015801	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	52934520	56015801	90348221	39	10531										
ROR2	4920	genome.wustl.edu	37	chr9	94493270	94493270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ggggccctccatctggcctcCggggttccggcagtaggcgt	16	14	1	0	rs151187583		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr9:94493270C>T	ENST00000375708.3	-	7	1303	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G229R	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	369	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTGGCCTCCGGGGTTCCGG	0.597																																																	0								C	ARG/GLY	0,4406		0,0,2203	63	60	61		1105	3	0.7	9	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR2	NM_004560.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	369/944	94493270	1,13005	2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1105G>A	9.37:g.94493270C>T	ENSP00000364860:p.Gly369Arg		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G369R	ENST00000375708.3	37	c.1105	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464527	0.84425	0.0	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.65732	-0.17;-0.17	3.95	3.05	0.35203	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.40385	U	0.001118	T	0.71533	0.3351	M	0.74389	2.26	0.80722	D	1	D;P;D	0.65815	0.995;0.832;0.989	P;B;P	0.55508	0.777;0.304;0.777	T	0.75575	-0.3270	10	0.87932	D	0	.	11.8359	0.52323	0.0:0.9136:0.0:0.0864	.	369;369;229	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	R	229;369	ENSP00000364867:G229R;ENSP00000364860:G369R	ENSP00000364860:G369R	G	-	1	0	ROR2	93533091	1.000000	0.71417	0.744000	0.31058	0.987000	0.75469	7.506000	0.81665	1.003000	0.39130	0.561000	0.74099	GGA	ROR2	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Kringle		0.597	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94493270	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.998	T	T	94493270	C	T	94493270	3	4	72	1	0	0	0	0	1	0	0	0	13557	661	23	2	1738	2	ROR2	9	94493270	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		94493270	46720161	40	10532										
ABL1	25	genome.wustl.edu	37	chr9	133759592	133759592	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gggccggcgaggaagagggcCgagacatcagcaacggggca	19	10	1	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr9:133759592C>T	ENST00000318560.5	+	11	2296	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	639					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGAAGAGGGCCGAGACATCAG	0.652			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													41	47	45					9																	133759592		2203	4299	6502	SO:0001587	stop_gained	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1915C>T	9.37:g.133759592C>T	ENSP00000323315:p.Arg639*		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R658*	ENST00000318560.5	37	c.1972	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.472999	0.98827	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.57	4.66	0.58398	.	0.254141	0.39985	N	0.001209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.5096	0.55999	0.4186:0.5814:0.0:0.0	.	.	.	.	X	454;658;639	.	ENSP00000323315:R639X	R	+	1	2	ABL1	132749413	0.943000	0.32029	0.169000	0.22859	0.782000	0.44232	1.648000	0.37271	1.326000	0.45319	0.561000	0.74099	CGA	ABL1	-	NULL		0.652	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133759592	1	no_errors	ENST00000372348	ensembl	human	known	70_37	nonsense	SNP	0.910	T	T	133759592	C	T	133759592	4	4	72	1	0	0	0	0	0	1	0	0	92	644	23	2	2097	2	ABL1	9	133759592	Nonsense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	39266322	133759592	7453839	41	10533										
FAM13C	220965	genome.wustl.edu	37	chr10	61028333	61028333	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ccggtatttcttttcttgttCaaatttttcttcaaatttcc	3	9	5	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:61028333C>G	ENST00000373868.2	-	8	1009	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	FAM13C_ENST00000435852.2_Missense_Mutation_p.E308Q|FAM13C_ENST00000373867.3_Missense_Mutation_p.E225Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.E308Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.E329Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.E308Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.E329Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.E225Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	308										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTTTCTTGTTCAAATTTTTCT	0.493																																																	0													91	90	90					10																	61028333		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.922G>C	10.37:g.61028333C>G	ENSP00000362975:p.Glu308Gln		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.E308Q	ENST00000373868.2	37	c.922	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038348	0.93630	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;0.29;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88880	0.6557	M	0.74881	2.28	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	D	0.87960	0.2729	10	0.62326	D	0.03	-23.4663	20.8794	0.99867	0.0:1.0:0.0:0.0	.	308;225;308;308;308	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Q	225;308;329;329;308;225;308;308;86	ENSP00000362974:E225Q;ENSP00000362975:E308Q;ENSP00000395661:E329Q;ENSP00000277705:E329Q;ENSP00000391993:E308Q;ENSP00000423896:E225Q;ENSP00000392302:E308Q;ENSP00000400241:E308Q;ENSP00000445068:E86Q	ENSP00000277705:E329Q	E	-	1	0	FAM13C	60698339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.869000	0.75521	2.941000	0.99782	0.655000	0.94253	GAA	FAM13C	-	NULL		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	C			61028333	-1	no_errors	ENST00000373868	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61028333	C	G	61028333	3	3	72	1	0	0	0	0	1	0	0	0	5469	835	29	1	863	1	FAM13C	10	61028333	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		61028333	74506414	42	10534										
GBF1	8729	genome.wustl.edu	37	chr10	104123068	104123068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	atggcctcagacatcccaggCctgcatctgccaggtggagg	13	13	2	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:104123068C>T	ENST00000369983.3	+	16	2189	c.1929C>T	c.(1927-1929)ggC>ggT	p.G643G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	643					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACATCCCAGGCCTGCATCTGC	0.547																																																	0													91	92	92					10																	104123068		2203	4300	6503	SO:0001819	synonymous_variant	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1929C>T	10.37:g.104123068C>T			Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.G643	ENST00000369983.3	37	c.1929	CCDS7533.1	10																																																																																			GBF1	-	NULL		0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	C			104123068	1	no_errors	ENST00000369983	ensembl	human	known	70_37	silent	SNP	1.000	T	T	104123068	C	T	104123068	2	4	72	1	0	0	0	0	0	0	0	1	6290	726	26	4		4	GBF1	10	104123068	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	43094735	104123068	31411679	43	10535										
ACSL5	51703	genome.wustl.edu	37	chr10	114171226	114171226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tcctacaggtgaccccaaagGagccatgataacccatcaaa	7	13	1	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:114171226G>A	ENST00000393081.1	+	10	1116	c.809G>A	c.(808-810)gGa>gAa	p.G270E	ACSL5_ENST00000369410.3_Missense_Mutation_p.G52E|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.G326E|ACSL5_ENST00000354655.4_Missense_Mutation_p.G270E|ACSL5_ENST00000433418.1_Missense_Mutation_p.G270E|ACSL5_ENST00000354273.4_Missense_Mutation_p.G270E|RP11-324O2.3_ENST00000594870.2_RNA|RP11-324O2.3_ENST00000449782.2_RNA|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	270					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GACCCCAAAGGAGCCATGATA	0.393																																																	0													97	94	95					10																	114171226		2203	4300	6503	SO:0001583	missense	51703			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.809G>A	10.37:g.114171226G>A	ENSP00000376796:p.Gly270Glu		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G326E	ENST00000393081.1	37	c.977	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965009	0.92855	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.61	5.61	0.85477	AMP-dependent synthetase/ligase (1);	0.051754	0.85682	D	0.000000	D	0.88526	0.6460	H	0.99927	4.965	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.994;0.987;0.995;0.997	D	0.93900	0.7187	10	0.87932	D	0	-3.4332	18.3953	0.90496	0.0:0.0:1.0:0.0	.	52;270;326;270	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	E	270;270;326;270;270;52	ENSP00000346680:G270E;ENSP00000376796:G270E;ENSP00000348429:G326E;ENSP00000403647:G270E;ENSP00000346223:G270E;ENSP00000358418:G52E	ENSP00000346223:G270E	G	+	2	0	ACSL5	114161216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.187000	0.94912	2.650000	0.89964	0.655000	0.94253	GGA	ACSL5	-	pfam_AMP-dep_Synth/Lig		0.393	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	G	NM_016234		114171226	1	no_errors	ENST00000356116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114171226	G	A	114171226	3	1	72	1	0	0	0	0	1	0	0	0	180	1174	41	1	1015	1	ACSL5	10	114171226	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	10048158	114171226	21363521	44	10536										
ATRNL1	26033	genome.wustl.edu	37	chr10	117024752	117024752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cactctgcagtagtcattaaCgggtaaaagaagcacatttc	8	9	2	1	rs561349730		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:117024752C>T	ENST00000355044.3	+	11	1896	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	590					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAGTCATTAACGGGTAAAAGA	0.328																																																	0													108	113	111					10																	117024752		2203	4299	6502	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1770C>T	10.37:g.117024752C>T			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.N590	ENST00000355044.3	37	c.1770	CCDS7592.1	10																																																																																			ATRNL1	-	pfam_Kelch_1		0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117024752	1	no_errors	ENST00000355044	ensembl	human	known	70_37	silent	SNP	1.000	T	T	117024752	C	T	117024752	2	4	72	1	0	0	0	0	0	0	0	1	1208	535	19	2		2	ATRNL1	10	117024752	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	2853526	117024752	18509995	45	10537										
MUC5B	727897	genome.wustl.edu	37	chr11	1272203	1272203	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ctccaccaccaacccctcctCaactccagggacaacaccca	3	22	1	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:1272203C>G	ENST00000529681.1	+	31	14151	c.14093C>G	c.(14092-14094)tCa>tGa	p.S4698*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.S4701*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4698	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		aacccctcctcaactccaggg	0.627																																																	0													111	137	128					11																	1272203		2105	4187	6292	SO:0001587	stop_gained	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14093C>G	11.37:g.1272203C>G	ENSP00000436812:p.Ser4698*		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4701*	ENST00000529681.1	37	c.14102	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	53	21.248688	0.99938	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	.	.	.	1.55	-0.8	0.10897	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.3448	0.16004	0.0:0.6315:0.2134:0.1551	.	.	.	.	X	4698;4701;4642;471	.	ENSP00000343037:S4642X	S	+	2	0	MUC5B	1228779	0.781000	0.28676	0.000000	0.03702	0.012000	0.07955	2.153000	0.42282	-0.026000	0.13895	0.194000	0.17425	TCA	MUC5B	-	NULL		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1272203	1	no_errors	ENST00000447027	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	1272203	C	G	1272203	4	3	72	1	0	0	0	0	0	1	0	0	10002	838	29	1	14224	1	MUC5B	11	1272203	Nonsense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		1272203	133734313	46	10538										
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	5	8	1	1	rs76509850	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	A	NM_004476		49204790	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49204790	A	G	49204790	2	3	72	1	0	0	0	0	0	0	0	1	5997	224	8	5		5	FOLH1	11	49204790	Silent	SNP	A	TCGA-EA-A3HR-01A-11D-A20U-09	47932587	49204790	85801726	47	10539										
OR5L2	26338	genome.wustl.edu	37	chr11	55595383	55595383	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cactatcctgaagatacactCtgcagagagcaggcacaaag	9	11	1	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:55595383C>T	ENST00000378397.1	+	1	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AAGATACACTCTGCAGAGAGC	0.493										HNSCC(27;0.073)																																							0													184	155	165					11																	55595383		2200	4296	6496	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.689C>T	11.37:g.55595383C>T	ENSP00000367650:p.Ser230Phe		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S230F	ENST00000378397.1	37	c.689	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	11.20	1.568799	0.28003	.	.	ENSG00000205030	ENST00000378397	T	0.00340	8.04	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.01156	0.0038	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22103	-1.0226	10	0.87932	D	0	-34.6134	12.2873	0.54798	0.0:0.9169:0.0:0.0831	.	230	Q8NGL0	OR5L2_HUMAN	F	230	ENSP00000367650:S230F	ENSP00000367650:S230F	S	+	2	0	OR5L2	55351959	0.000000	0.05858	0.770000	0.31555	0.001000	0.01503	0.986000	0.29590	2.617000	0.88574	0.632000	0.83419	TCT	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55595383	1	no_errors	ENST00000378397	ensembl	human	known	70_37	missense	SNP	0.010	T	T	55595383	C	T	55595383	3	4	72	1	0	0	0	0	1	0	0	0	11195	913	32	1	691	1	OR5L2	11	55595383	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	6390593	55595383	79411133	48	10540										
LPXN	9404	genome.wustl.edu	37	chr11	58322403	58322403	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tggtggtgattcctttggctCttgggcttcactatagaggg	14	7	2	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:58322403C>T	ENST00000395074.2	-	4	317	c.229G>A	c.(229-231)Gag>Aag	p.E77K	LPXN_ENST00000528489.1_Missense_Mutation_p.E57K|LPXN_ENST00000528954.1_Missense_Mutation_p.E82K	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	77					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCCTTTGGCTCTTGGGCTTCA	0.428																																																	0													156	146	149					11																	58322403		2201	4295	6496	SO:0001583	missense	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.229G>A	11.37:g.58322403C>T	ENSP00000378512:p.Glu77Lys		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.E82K	ENST00000395074.2	37	c.244	CCDS7969.1	11	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604670	0.28623	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.32023	1.47;1.48	5.44	2.57	0.30868	.	0.164677	0.40469	N	0.001084	T	0.27241	0.0668	M	0.73598	2.24	0.26451	N	0.975614	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37291	-0.9712	10	0.08381	T	0.77	.	7.9455	0.29985	0.0:0.7415:0.0:0.2585	.	57;82;77	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	K	82;77	ENSP00000431284:E82K;ENSP00000378512:E77K	ENSP00000378512:E77K	E	-	1	0	LPXN	58078979	0.000000	0.05858	0.818000	0.32626	0.209000	0.24338	0.331000	0.19733	0.367000	0.24454	0.563000	0.77884	GAG	LPXN	-	pirsf_Leupaxin		0.428	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	C	NM_004811		58322403	-1	no_errors	ENST00000528954	ensembl	human	known	70_37	missense	SNP	0.975	T	T	58322403	C	T	58322403	3	4	72	1	0	0	0	0	1	0	0	0	8952	922	32	1	955	1	LPXN	11	58322403	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	2727020	58322403	76684113	49	10541										
KDM5A	5927	genome.wustl.edu	37	chr12	463280	463280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	acacctccagtctcctttggGcacatcaggtagtggaggaa	11	11	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:463280G>T	ENST00000399788.2	-	8	1353	c.991C>A	c.(991-993)Ccc>Acc	p.P331T	KDM5A_ENST00000382815.4_Missense_Mutation_p.P331T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	331					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTCCTTTGGGCACATCAGGT	0.398			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													143	137	139					12																	463280		1927	4143	6070	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.991C>A	12.37:g.463280G>T	ENSP00000382688:p.Pro331Thr		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.P331T	ENST00000399788.2	37	c.991	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768973	0.90020	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.89485	-2.52;-2.52	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.053399	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98652	1.0680	10	0.87932	D	0	-8.3347	18.8719	0.92319	0.0:0.0:1.0:0.0	.	331;331;331	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	290;331;331	ENSP00000382688:P331T;ENSP00000372265:P331T	ENSP00000372265:P331T	P	-	1	0	KDM5A	333541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.530000	0.85305	0.467000	0.42956	CCC	KDM5A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		463280	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	463280	G	T	463280	3	4	72	1	0	0	0	0	1	0	0	0	8153	1203	42	4	4165	4	KDM5A	12	463280	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		463280	133388615	50	10542										
CAPZA3	93661	genome.wustl.edu	37	chr12	18891779	18891779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cgggaagaatatttgtgcaaGctcacttcttcaggtgtgtc	11	8	3	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:18891779G>T	ENST00000317658.3	+	1	735	c.577G>T	c.(577-579)Gct>Tct	p.A193S	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	193					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATTTGTGCAAGCTCACTTCTT	0.398																																																	0													79	79	79					12																	18891779		2203	4300	6503	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.577G>T	12.37:g.18891779G>T	ENSP00000326238:p.Ala193Ser		Q969J0	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.A193S	ENST00000317658.3	37	c.577	CCDS8681.1	12	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247435	0.59103	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	F-actin capping protein, alpha subunit, conserved site (1);	0.181068	0.36519	N	0.002550	T	0.56292	0.1975	L	0.44542	1.39	0.30601	N	0.760496	D	0.65815	0.995	D	0.64506	0.926	T	0.59322	-0.7476	9	0.87932	D	0	-10.4784	10.4514	0.44524	0.0:0.0:0.8059:0.1941	.	193	Q96KX2	CAZA3_HUMAN	S	193	.	ENSP00000326238:A193S	A	+	1	0	CAPZA3	18783046	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.502000	0.35704	2.498000	0.84270	0.462000	0.41574	GCT	CAPZA3	-	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha		0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA3	HGNC	protein_coding	OTTHUMT00000401902.1	G	NM_033328		18891779	1	no_errors	ENST00000317658	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18891779	G	T	18891779	3	4	72	1	0	0	0	0	1	0	0	0	2647	971	34	4	579	4	CAPZA3	12	18891779	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	18428499	18891779	114960116	51	10543										
KRT84	3890	genome.wustl.edu	37	chr12	52771916	52771916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gcccccctgggtgggcagggGgcaggggacgctggggacac	21	12	0	0	rs368100864		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:52771916G>A	ENST00000257951.3	-	9	1771	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	569	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGGGCAGGGGGCAGGGGACG	0.697													G|||	1	0.000199681	0	0.0014	5008	,	,		14495	0		0	False		,,,				2504	0																0								G	SER/PRO	2,4368		0,2,2183	10	12	12		1705	0.6	1	12		12	0,8540		0,0,4270	no	missense	KRT84	NM_033045.3	74	0,2,6453	AA,AG,GG		0.0,0.0458,0.0155	benign	569/601	52771916	2,12908	2185	4270	6455	SO:0001583	missense	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1705C>T	12.37:g.52771916G>A	ENSP00000257951:p.Pro569Ser		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.P569S	ENST00000257951.3	37	c.1705	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613363	0.28712	4.58E-4	0.0	ENSG00000161849	ENST00000257951	T	0.79653	-1.29	3.75	0.571	0.17352	.	0.253264	0.20849	N	0.084580	T	0.56992	0.2023	N	0.08118	0	0.23464	N	0.997628	B	0.22003	0.063	B	0.19946	0.027	T	0.43702	-0.9375	10	0.30078	T	0.28	.	6.0898	0.19989	0.0:0.1888:0.4727:0.3385	.	569	Q9NSB2	KRT84_HUMAN	S	569	ENSP00000257951:P569S	ENSP00000257951:P569S	P	-	1	0	KRT84	51058183	0.808000	0.29022	0.982000	0.44146	0.712000	0.41017	0.392000	0.20801	0.007000	0.14760	0.462000	0.41574	CCC	KRT84	-	NULL		0.697	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	G	NM_033045		52771916	-1	no_errors	ENST00000257951	ensembl	human	known	70_37	missense	SNP	0.968	A	A	52771916	G	A	52771916	3	1	72	1	0	0	0	0	1	0	0	0	8518	1232	43	4	101	4	KRT84	12	52771916	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	33880137	52771916	81079979	52	10544										
PXN	5829	genome.wustl.edu	37	chr12	120652925	120652925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cctgcccggcgatgggcttcTtgcaggccccgcagactcct	12	17	1	1	rs201427575		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:120652925T>C	ENST00000228307.7	-	8	1226	c.1085A>G	c.(1084-1086)aAg>aGg	p.K362R	PXN_ENST00000424649.2_Missense_Mutation_p.K328R|PXN_ENST00000458477.2_Missense_Mutation_p.K195R|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000267257.7_Missense_Mutation_p.K376R|PXN_ENST00000536957.1_Missense_Mutation_p.K360R|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Missense_Mutation_p.K174R|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	362	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGGGCTTCTTGCAGGCCCC	0.692													T|||	1	0.000199681	8e-04	0	5008	,	,		13240	0		0	False		,,,				2504	0																0								T	ARG/LYS,ARG/LYS,ARG/LYS	6,4326		0,6,2160	17	20	19		1085,983,584	5.1	1	12		19	0,8536		0,0,4268	yes	missense,missense,missense	PXN	NM_001080855.2,NM_002859.3,NM_025157.4	26,26,26	0,6,6428	CC,CT,TT		0.0,0.1385,0.0466	benign,benign,benign	362/592,328/558,195/425	120652925	6,12862	2166	4268	6434	SO:0001583	missense	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1085A>G	12.37:g.120652925T>C	ENSP00000228307:p.Lys362Arg		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.K376R	ENST00000228307.7	37	c.1127	CCDS44997.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.76|14.76	2.631027|2.631027	0.46944|0.46944	0.001385|0.001385	0.0|0.0	ENSG00000089159|ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000541856|ENST00000550795	D;D;D;D;D;D|.	0.87966|.	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Zinc finger, LIM-type (5);|.	.|.	.|.	.|.	.|.	T|T	0.52709|0.52709	0.1751|0.1751	N|N	0.25332|0.25332	0.735|0.735	0.44454|0.44454	D|D	0.99738|0.99738	B;B;B;B|.	0.21753|.	0.049;0.058;0.009;0.06|.	B;B;B;B|.	0.22152|.	0.022;0.022;0.017;0.038|.	T|T	0.49781|0.49781	-0.8903|-0.8903	9|5	0.19147|.	T|.	0.46|.	.|.	14.8125|14.8125	0.70006|0.70006	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	328;376;174;362|.	P49023-2;P49023-3;E7EMK8;P49023|.	.;.;.;PAXI_HUMAN|.	R|G	195;362;328;360;376;174;87|111	ENSP00000395536:K195R;ENSP00000228307:K362R;ENSP00000391283:K328R;ENSP00000443887:K360R;ENSP00000267257:K376R;ENSP00000380643:K174R|.	ENSP00000228307:K362R|.	K|R	-|-	2|1	0|2	PXN|PXN	119137308|119137308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.864000|3.864000	0.56024|0.56024	1.907000|1.907000	0.55213|0.55213	0.450000|0.450000	0.29827|0.29827	AAG|AGA	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.692	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	T	NM_002859		120652925	-1	no_errors	ENST00000267257	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120652925	T	C	120652925	3	2	72	1	0	0	0	0	1	0	0	0	12882	1609	56	5	710	5	PXN	12	120652925	Missense_Mutation	SNP	T	TCGA-EA-A3HR-01A-11D-A20U-09	67881009	120652925	13198970	53	10545										
GPR133	283383	genome.wustl.edu	37	chr12	131487803	131487803	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tgtatcctccaacctgcacgGcagcacgccccaggtcaccg	9	18	1	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:131487803G>C	ENST00000261654.5	+	10	1659	c.1100G>C	c.(1099-1101)gGc>gCc	p.G367A	GPR133_ENST00000376682.4_Missense_Mutation_p.G53A|GPR133_ENST00000535015.1_Missense_Mutation_p.G399A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	367					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AACCTGCACGGCAGCACGCCC	0.632																																																	0													119	98	105					12																	131487803		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1100G>C	12.37:g.131487803G>C	ENSP00000261654:p.Gly367Ala		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G367A	ENST00000261654.5	37	c.1100	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	G	0.119	-1.128311	0.01770	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.38887	1.14;1.14;1.11	4.88	2.05	0.26809	.	2.393500	0.01240	N	0.008593	T	0.15478	0.0373	N	0.00841	-1.15	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.27123	-1.0083	10	0.12430	T	0.62	.	5.1019	0.14764	0.0:0.6339:0.1744:0.1917	.	399;367	B7ZLF7;Q6QNK2	.;GP133_HUMAN	A	367;399;58;63;53	ENSP00000261654:G367A;ENSP00000444425:G399A;ENSP00000365872:G53A	ENSP00000261654:G367A	G	+	2	0	GPR133	130053756	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.237000	0.17985	0.220000	0.20860	-0.306000	0.09157	GGC	GPR133	-	NULL		0.632	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	G	NM_198827		131487803	1	no_errors	ENST00000261654	ensembl	human	known	70_37	missense	SNP	0.002	C	C	131487803	G	C	131487803	3	2	72	1	0	0	0	0	1	0	0	0	6662	1203	42	4	1138	4	GPR133	12	131487803	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	10834878	131487803	2364092	54	10546										
LNX2	222484	genome.wustl.edu	37	chr13	28122595	28122595	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	agcccatttacggccacaatCatgtcaccacacctggacaa	6	15	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr13:28122595C>G	ENST00000316334.3	-	10	2079	c.1950G>C	c.(1948-1950)atG>atC	p.M650I		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	650	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CGGCCACAATCATGTCACCAC	0.423																																																	0													95	78	84					13																	28122595		2203	4300	6503	SO:0001583	missense	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1950G>C	13.37:g.28122595C>G	ENSP00000325929:p.Met650Ile		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.M650I	ENST00000316334.3	37	c.1950	CCDS9323.1	13	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774864	0.31411	.	.	ENSG00000139517	ENST00000316334	T	0.25579	1.79	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.00510	-1.415	0.80722	D	1	B	0.11235	0.004	B	0.18871	0.023	T	0.39418	-0.9615	10	0.12766	T	0.61	.	20.4379	0.99098	0.0:1.0:0.0:0.0	.	650	Q8N448	LNX2_HUMAN	I	650	ENSP00000325929:M650I	ENSP00000325929:M650I	M	-	3	0	LNX2	27020595	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	7.818000	0.86416	2.838000	0.97847	0.585000	0.79938	ATG	LNX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.423	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	C			28122595	-1	no_errors	ENST00000316334	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28122595	C	G	28122595	3	3	72	1	0	0	0	0	1	0	0	0	8887	826	29	1	126	1	LNX2	13	28122595	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		28122595	87047283	55	10547										
ACAN	176	genome.wustl.edu	37	chr15	89401545	89401545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ggtcagtggagaatcctccaGagctgagattgggagcagcc	15	9	1	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr15:89401545G>A	ENST00000561243.1	+	11	5729	c.5729G>A	c.(5728-5730)aGa>aAa	p.R1910K	ACAN_ENST00000559004.1_Missense_Mutation_p.R1910K|ACAN_ENST00000439576.2_Missense_Mutation_p.R1910K|ACAN_ENST00000352105.7_Missense_Mutation_p.R1910K			P16112	PGCA_HUMAN	aggrecan	1905	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAATCCTCCAGAGCTGAGATT	0.512																																																	0													70	75	73					15																	89401545		1999	4177	6176	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5729G>A	15.37:g.89401545G>A	ENSP00000453342:p.Arg1910Lys		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.R1910K	ENST00000561243.1	37	c.5729	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541070	0.13250	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02103	4.7;4.45	5.56	4.63	0.57726	.	0.585291	0.13006	N	0.421298	T	0.01905	0.0060	N	0.08118	0	0.21386	N	0.99971	P;P	0.38167	0.621;0.621	B;B	0.38378	0.272;0.272	T	0.55211	-0.8176	10	0.20046	T	0.44	-6.8255	15.4245	0.75041	0.0:0.1393:0.8607:0.0	.	1910;1910	E7ENV9;E7EX88	.;.	K	1910;1910;1796	ENSP00000387356:R1910K;ENSP00000341615:R1910K	ENSP00000268134:R1796K	R	+	2	0	ACAN	87202549	1.000000	0.71417	0.584000	0.28653	0.390000	0.30446	5.329000	0.65892	1.310000	0.45006	0.655000	0.94253	AGA	ACAN	-	NULL		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89401545	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	0.998	A	A	89401545	G	A	89401545	3	1	72	1	0	0	0	0	1	0	0	0	117	942	33	1	5771	1	ACAN	15	89401545	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		89401545	13129847	56	10548										
PCSK6	5046	genome.wustl.edu	37	chr15	101872158	101872158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	agagctccagcatccgcgagCgggactgatgggcactgaag	15	11	0	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr15:101872158C>T	ENST00000348070.1	-	15	1933	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	PCSK6_ENST00000561177.1_5'UTR|RP11-299G20.3_ENST00000558696.1_RNA|PCSK6_ENST00000358417.3_Missense_Mutation_p.R645H	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	646					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCCGCGAGCGGGACTGATG	0.577																																																	0													51	54	53					15																	101872158		2028	4187	6215	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1934G>A	15.37:g.101872158C>T	ENSP00000305056:p.Arg645His		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.R645H	ENST00000348070.1	37	c.1934		15	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741281	0.89573	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T;T	0.68624	-0.09;-0.1;-0.34	5.82	5.82	0.92795	.	0.054877	0.64402	D	0.000001	T	0.79417	0.4442	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.99;1.0;0.999;1.0	P;P;D;D;D	0.83275	0.873;0.572;0.996;0.954;0.927	T	0.76515	-0.2931	10	0.37606	T	0.19	-40.2274	17.5867	0.87983	0.0:1.0:0.0:0.0	.	646;477;646;646;645	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	H	645;645;476	ENSP00000305056:R645H;ENSP00000351193:R645H;ENSP00000381246:R476H	ENSP00000305056:R645H	R	-	2	0	PCSK6	99689681	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	3.059000	0.49947	2.744000	0.94065	0.650000	0.86243	CGC	PCSK6	-	NULL		0.577	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		C	NM_002570		101872158	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	missense	SNP	0.998	T	T	101872158	C	T	101872158	3	4	72	1	0	0	0	0	1	0	0	0	11628	768	27	2	1237	2	PCSK6	15	101872158	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	12470613	101872158	659234	57	10549										
WDR90	197335	genome.wustl.edu	37	chr16	717452	717452	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	agtgcatgctgaggctggtaGactgtgccatggggactgcc	16	9	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:717452G>A	ENST00000293879.4	+	41	5110	c.5110G>A	c.(5110-5112)Gac>Aac	p.D1704N	WDR90_ENST00000549091.1_Missense_Mutation_p.D1706N|WDR90_ENST00000547944.1_Missense_Mutation_p.D303N|WDR90_ENST00000315764.4_Missense_Mutation_p.D255N|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1704										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGCTGGTAGACTGTGCCAT	0.657																																																	0													45	54	51					16																	717452		2138	4229	6367	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.5110G>A	16.37:g.717452G>A	ENSP00000293879:p.Asp1704Asn		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D255N	ENST00000293879.4	37	c.763	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925593	0.34002	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.71579	2.93;0.93;-0.58;1.05	5.14	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.556047	0.17523	U	0.171179	T	0.73133	0.3548	L	0.61036	1.89	0.32243	N	0.572416	P;B;P	0.50272	0.933;0.366;0.89	P;B;P	0.52217	0.693;0.081;0.496	T	0.75883	-0.3160	10	0.40728	T	0.16	.	8.1199	0.30965	0.0842:0.0:0.7557:0.16	.	255;303;1704	Q96KV7-7;G3V201;Q96KV7	.;.;WDR90_HUMAN	N	1706;1704;303;255	ENSP00000448122:D1706N;ENSP00000293879:D1704N;ENSP00000449576:D303N;ENSP00000322808:D255N	ENSP00000293879:D1704N	D	+	1	0	WDR90	657453	1.000000	0.71417	0.988000	0.46212	0.115000	0.19883	2.197000	0.42696	1.126000	0.42016	0.609000	0.83330	GAC	WDR90	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		717452	1	no_errors	ENST00000315764	ensembl	human	known	70_37	missense	SNP	0.969	A	A	717452	G	A	717452	3	1	72	1	0	0	0	0	1	0	0	0	17368	942	33	1	5272	1	WDR90	16	717452	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		717452	89637301	58	10550										
PTX4	390667	genome.wustl.edu	37	chr16	1537463	1537463	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gtggggggcccctgtgctcaGaggcagctcggagctcctgc	17	13	1	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:1537463G>C	ENST00000447419.2	-	2	675	c.650C>G	c.(649-651)tCt>tGt	p.S217C	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.S212C			Q96A99	PTX4_HUMAN	pentraxin 4, long	217						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTGTGCTCAGAGGCAGCTCG	0.706																																																	0													15	19	17					16																	1537463		2191	4291	6482	SO:0001583	missense	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.650C>G	16.37:g.1537463G>C	ENSP00000445277:p.Ser217Cys			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S217C	ENST00000447419.2	37	c.650		16	.	.	.	.	.	.	.	.	.	.	G	8.530	0.870693	0.17322	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05717	3.55;3.4	5.14	1.99	0.26369	.	3.724240	0.00628	N	0.000465	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34950	-0.9808	10	0.48119	T	0.1	.	4.4528	0.11628	0.0852:0.1522:0.6052:0.1575	.	212	Q96A99-2	.	C	217;212	ENSP00000445277:S217C;ENSP00000293922:S212C	ENSP00000293922:S212C	S	-	2	0	PTX4	1477464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.711000	0.05019	0.258000	0.21686	-0.122000	0.15005	TCT	PTX4	-	NULL		0.706	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	G	NM_001013658		1537463	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	missense	SNP	0.000	C	C	1537463	G	C	1537463	3	2	72	1	0	0	0	0	1	0	0	0	12853	942	33	1	793	1	PTX4	16	1537463	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	820011	1537463	88817290	59	10551										
CCDC64B	146439	genome.wustl.edu	37	chr16	3081097	3081097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cacggcccgggcctcccactCggctcctcgggctgccaggc	13	20	0	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:3081097C>T	ENST00000572449.1	-	3	399	c.337G>A	c.(337-339)Gag>Aag	p.E113K	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E113K|CCDC64B_ENST00000573514.1_5'UTR|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	113										breast(1)|endometrium(2)|large_intestine(1)	4						GCCTCCCACTCGGCTCCTCGG	0.716																																																	0													4	5	5					16																	3081097		1608	3453	5061	SO:0001583	missense	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.337G>A	16.37:g.3081097C>T	ENSP00000459043:p.Glu113Lys		Q658L9	Missense_Mutation	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.E113K	ENST00000572449.1	37	c.337	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698946	0.68501	.	.	ENSG00000162069	ENST00000389347	T	0.05382	3.45	5.4	5.4	0.78164	.	0.063690	0.64402	D	0.000007	T	0.24275	0.0588	M	0.71206	2.165	0.58432	D	0.999996	D	0.89917	1.0	D	0.69307	0.963	T	0.00178	-1.1951	10	0.72032	D	0.01	-23.8629	16.6682	0.85258	0.0:1.0:0.0:0.0	.	113	A1A5D9	BICR2_HUMAN	K	113	ENSP00000373998:E113K	ENSP00000373998:E113K	E	-	1	0	CCDC64B	3021098	1.000000	0.71417	0.950000	0.38849	0.751000	0.42716	5.600000	0.67599	2.542000	0.85734	0.561000	0.74099	GAG	CCDC64B	-	NULL		0.716	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	C			3081097	-1	no_errors	ENST00000389347	ensembl	human	known	70_37	missense	SNP	0.998	T	T	3081097	C	T	3081097	3	4	72	1	0	0	0	0	1	0	0	0	2841	893	31	1	1221	1	CCDC64B	16	3081097	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	1543634	3081097	87273656	60	10552										
CDH11	1009	genome.wustl.edu	37	chr16	65022216	65022216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cctacttcctccccagggacGgctgcttctgacacagacat	8	16	1	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:65022216G>A	ENST00000268603.4	-	7	1458	c.843C>T	c.(841-843)gcC>gcT	p.A281A	CDH11_ENST00000394156.3_Silent_p.A281A|CDH11_ENST00000566827.1_Silent_p.A155A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A281A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCCAGGGACGGCTGCTTCTG	0.393			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - coding silent(1)	large_intestine(1)											172	157	162					16																	65022216		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.843C>T	16.37:g.65022216G>A			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A281	ENST00000268603.4	37	c.843	CCDS10803.1	16																																																																																			CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.393	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		65022216	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	0.984	A	A	65022216	G	A	65022216	2	1	72	1	0	0	0	0	0	0	0	1	3102	1103	39	2		2	CDH11	16	65022216	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	61941119	65022216	25332537	61	10553										
FBXL20	84961	genome.wustl.edu	37	chr17	37557641	37557641	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ctgctcttggtcactccgttCacgtccctcctcatggggcc	9	17	4	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:37557641C>T	ENST00000264658.6	-	1	275	c.15G>A	c.(13-15)gtG>gtA	p.V5V	FBXL20_ENST00000583610.1_Silent_p.V5V|FBXL20_ENST00000577399.1_Intron|FBXL20_ENST00000394294.3_Silent_p.V5V|CTB-131K11.1_ENST00000582842.1_RNA	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	5					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCACTCCGTTCACGTCCCTCC	0.731																																																	0													42	29	33					17																	37557641		2200	4296	6496	SO:0001819	synonymous_variant	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.15G>A	17.37:g.37557641C>T			A8K729|Q38J52	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.V5	ENST00000264658.6	37	c.15	CCDS32640.1	17																																																																																			FBXL20	-	NULL		0.731	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	C	NM_032875		37557641	-1	no_errors	ENST00000264658	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37557641	C	T	37557641	2	4	72	1	0	0	0	0	0	0	0	1	5735	813	29	1		1	FBXL20	17	37557641	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		37557641	43637569	62	10554										
KRTAP1-3	81850	genome.wustl.edu	37	chr17	39190812	39190812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gccatagccaatgccaccacCaatgccacagccagttccgc	7	18	0	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:39190812C>A	ENST00000344363.5	-	1	295	c.262G>T	c.(262-264)Ggt>Tgt	p.G88C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	98			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ATGCCACCACCAATGCCACAG	0.647																																																	0													24	28	27					17																	39190812		1991	4166	6157	SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.262G>T	17.37:g.39190812C>A	ENSP00000344420:p.Gly88Cys		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.G88C	ENST00000344363.5	37	c.262	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433328	0.25813	.	.	ENSG00000221880	ENST00000344363	T	0.44482	0.92	4.19	2.18	0.27775	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.25146	N	0.990464	D	0.67145	0.996	P	0.61397	0.888	T	0.32268	-0.9913	8	0.44086	T	0.13	.	6.5272	0.22307	0.0:0.7775:0.0:0.2225	.	98	Q8IUG1	KRA13_HUMAN	C	88	ENSP00000344420:G88C	ENSP00000344420:G88C	G	-	1	0	KRTAP1-3	36444338	0.830000	0.29337	0.021000	0.16686	0.071000	0.16799	-0.592000	0.05747	0.526000	0.28541	0.655000	0.94253	GGT	KRTAP1-3	-	pfam_Keratin-assoc		0.647	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	C			39190812	-1	no_errors	ENST00000344363	ensembl	human	known	70_37	missense	SNP	0.514	A	A	39190812	C	A	39190812	3	1	72	1	0	0	0	0	1	0	0	0	8523	594	21	4	245	4	KRTAP1-3	17	39190812	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	1633171	39190812	42004398	63	10555										
KRTAP1-3	81850	genome.wustl.edu	37	chr17	39190875	39190875	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tggctggcagcagctggtctCacagcagcttggctggcagc	15	12	1	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:39190875C>A	ENST00000344363.5	-	1	232	c.199G>T	c.(199-201)Gag>Tag	p.E67*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	77			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.E67Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											30	35	33					17																	39190875		1980	4162	6142	SO:0001587	stop_gained	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.199G>T	17.37:g.39190875C>A	ENSP00000344420:p.Glu67*		Q07628|Q8IUG0|Q9BYS2	Nonsense_Mutation	SNP	pfam_Keratin-assoc	p.E67*	ENST00000344363.5	37	c.199	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040072	0.35989	.	.	ENSG00000221880	ENST00000344363	.	.	.	3.48	-5.07	0.02938	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.6903	0.34262	0.0:0.5354:0.201:0.2637	.	.	.	.	X	67	.	ENSP00000344420:E67X	E	-	1	0	KRTAP1-3	36444401	0.750000	0.28316	0.000000	0.03702	0.179000	0.23085	-0.001000	0.12947	-0.956000	0.03631	-0.436000	0.05848	GAG	KRTAP1-3	-	pfam_Keratin-assoc		0.617	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	C			39190875	-1	no_errors	ENST00000344363	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	39190875	C	A	39190875	4	1	72	1	0	0	0	0	0	1	0	0	8523	835	29	3	308	3	KRTAP1-3	17	39190875	Nonsense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	63	39190875	42004335	64	10556										
NPEPPS	9520	genome.wustl.edu	37	chr17	45608750	45608750	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cctcccctcctccttctcgtCttcagccgctcctctcgccg	5	23	4	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:45608750C>T	ENST00000322157.4	+	1	321	c.84C>T	c.(82-84)gtC>gtT	p.V28V	NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_5'UTR|NPEPPS_ENST00000530173.1_Intron	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	28					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						tccttctcgtcttcagccgct	0.726																																																	0													1	1	1					17																	45608750		463	1191	1654	SO:0001819	synonymous_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.84C>T	17.37:g.45608750C>T			B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V28	ENST00000322157.4	37	c.84	CCDS45721.1	17																																																																																			NPEPPS	-	NULL		0.726	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	C	NM_006310		45608750	1	no_errors	ENST00000322157	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45608750	C	T	45608750	2	4	72	1	0	0	0	0	0	0	0	1	10599	900	32	1		1	NPEPPS	17	45608750	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	6417875	45608750	35586460	65	10557										
MPO	4353	genome.wustl.edu	37	chr17	56349079	56349079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aggcgaggagtgggcccacgCggcctttgcgcttcagaggc	17	12	1	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:56349079C>T	ENST00000225275.3	-	11	2143	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	MPO_ENST00000340482.3_Missense_Mutation_p.R688H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	656					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGGGCCCACGCGGCCTTTGCG	0.627																																																	0													62	47	52					17																	56349079		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1967G>A	17.37:g.56349079C>T	ENSP00000225275:p.Arg656His		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R688H	ENST00000225275.3	37	c.2063	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191982	0.78902	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73897	-0.79;-0.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91474	0.5199	10	0.87932	D	0	-12.3872	18.2607	0.90034	0.0:1.0:0.0:0.0	.	656	P05164	PERM_HUMAN	H	688;656	ENSP00000344419:R688H;ENSP00000225275:R656H	ENSP00000225275:R656H	R	-	2	0	MPO	53704078	1.000000	0.71417	0.961000	0.40146	0.100000	0.18952	7.797000	0.85911	2.561000	0.86390	0.563000	0.77884	CGC	MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	C			56349079	-1	no_errors	ENST00000340482	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56349079	C	T	56349079	3	4	72	1	0	0	0	0	1	0	0	0	9755	768	27	2	278	2	MPO	17	56349079	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	10740329	56349079	24846131	66	10558										
WDR45L	56270	genome.wustl.edu	37	chr17	80585163	80585163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ttcttcaggtcatcccagatCattactgaaatatcagaaag	6	9	5	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:80585163C>T	ENST00000392325.4	-	4	443	c.249G>A	c.(247-249)atG>atA	p.M83I	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	83																	CATCCCAGATCATTACTGAAA	0.463																																																	0													102	99	100					17																	80585163		2203	4300	6503	SO:0001583	missense	56270			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.249G>A	17.37:g.80585163C>T	ENSP00000376139:p.Met83Ile		O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.M83I	ENST00000392325.4	37	c.249	CCDS11815.2	17	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615178	0.46631	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.62639	0.01	4.46	4.46	0.54185	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	N	0.20766	0.605	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39702	-0.9601	10	0.10111	T	0.7	-47.5108	17.4991	0.87727	0.0:1.0:0.0:0.0	.	83	Q5MNZ6	WIPI3_HUMAN	I	83;55	ENSP00000376139:M83I	ENSP00000376139:M83I	M	-	3	0	WDR45L	78178452	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.244000	0.78228	2.195000	0.70347	0.467000	0.42956	ATG	WDR45L	-	superfamily_WD40_repeat_dom		0.463	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR45L	HGNC	protein_coding	OTTHUMT00000316536.1	C	NM_019613		80585163	-1	no_errors	ENST00000392325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80585163	C	T	80585163	3	4	72	1	0	0	0	0	1	0	0	0	17329	826	29	1	813	1	WDR45L	17	80585163	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	24236084	80585163	610047	67	10559										
C19orf21	126353	genome.wustl.edu	37	chr19	759979	759979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cacctacactcaaacgtggcGtggacagtggaagatccagt	11	11	1	1	rs202184785		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:759979G>A	ENST00000215582.6	+	3	1954	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	617					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CAAACGTGGCGTGGACAGTGG	0.582																																																	0								G		0,4406		0,0,2203	122	104	110		1851	0.9	0.1	19		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf21	NM_173481.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		617/680	759979	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1851G>A	19.37:g.759979G>A				Silent	SNP	NULL	p.A617	ENST00000215582.6	37	c.1851	CCDS12042.1	19																																																																																			C19orf21	-	NULL		0.582	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf21	HGNC	protein_coding	OTTHUMT00000457600.2	G	NM_173481		759979	1	no_errors	ENST00000215582	ensembl	human	known	70_37	silent	SNP	0.920	A	A	759979	G	A	759979	2	1	72	1	0	0	0	0	0	0	0	1	1918	1132	40	2		2	C19orf21	19	759979	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		759979	58369004	68	10560										
ZNF555	148254	genome.wustl.edu	37	chr19	2852402	2852402	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aatcatgggttggagagactCtgtgaaagtaatgatcaatg	12	4	3	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:2852402C>A	ENST00000334241.4	+	4	477	c.339C>A	c.(337-339)ctC>ctA	p.L113L	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.L112L	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAGACTCTGTGAAAGTA	0.343																																																	0													56	54	55					19																	2852402		2203	4300	6503	SO:0001819	synonymous_variant	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.339C>A	19.37:g.2852402C>A			A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L113	ENST00000334241.4	37	c.339	CCDS12096.1	19																																																																																			ZNF555	-	NULL		0.343	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	C	NM_152791		2852402	1	no_errors	ENST00000334241	ensembl	human	known	70_37	silent	SNP	0.001	A	A	2852402	C	A	2852402	2	1	72	1	0	0	0	0	0	0	0	1	18016	900	32	3		3	ZNF555	19	2852402	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	2092423	2852402	56276581	69	10561										
EIF3G	8666	genome.wustl.edu	37	chr19	10230374	10230374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ggtcggcccaactgggcttcGaactgcggaaacaaatgtgt	13	10	0	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:10230374G>A	ENST00000253108.4	-	2	65	c.23C>T	c.(22-24)tCg>tTg	p.S8L	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACTGGGCTTCGAACTGCGGAA	0.637											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(124;1100 1638 3822 4510 4876)												0													63	64	64					19																	10230374		2203	4300	6503	SO:0001583	missense	8666			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"RNA binding motif (RRM) containing"	3274	protein-coding gene	gene with protein product		603913	"eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.23C>T	19.37:g.10230374G>A	ENSP00000253108:p.Ser8Leu	663		Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.S8L	ENST00000253108.4	37	c.23	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114168	0.56398	.	.	ENSG00000130811	ENST00000253108	T	0.13778	2.56	4.98	4.98	0.66077	.	0.138311	0.49916	D	0.000121	T	0.18964	0.0455	N	0.08118	0	0.58432	D	0.999998	D;D;B	0.89917	1.0;1.0;0.043	D;D;B	0.87578	0.998;0.988;0.007	T	0.23940	-1.0174	10	0.36615	T	0.2	-11.2524	15.7745	0.78204	0.0:0.0:1.0:0.0	.	8;8;8	B4DK39;B0AZV5;O75821	.;.;EIF3G_HUMAN	L	8	ENSP00000253108:S8L	ENSP00000253108:S8L	S	-	2	0	EIF3G	10091374	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.526000	0.81920	2.587000	0.87381	0.491000	0.48974	TCG	EIF3G	-	pirsf_Transl_init_eIF-3_G		0.637	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	G			10230374	-1	no_errors	ENST00000253108	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10230374	G	A	10230374	3	1	72	1	0	0	0	0	1	0	0	0	5029	1059	37	1	979	1	EIF3G	19	10230374	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	7377972	10230374	48898609	70	10562										
ZNF829	374899	genome.wustl.edu	37	chr19	37382767	37382767	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tctgatgctgaataagccttGagtgttgagtaaaggctttc	11	6	1	4			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:37382767G>C	ENST00000391711.3	-	6	1290	c.926C>G	c.(925-927)tCa>tGa	p.S309*	ZNF829_ENST00000520965.1_Nonsense_Mutation_p.S390*|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	309					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.S309*(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAAGCCTTGAGTGTTGAGT	0.383																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											76	78	77					19																	37382767		2200	4300	6500	SO:0001587	stop_gained	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.926C>G	19.37:g.37382767G>C	ENSP00000429266:p.Ser309*		Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S390*	ENST00000391711.3	37	c.1169	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.131755	0.94473	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7668	0.62999	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000429266:S309X	S	-	2	0	ZNF829	42074607	0.000000	0.05858	0.967000	0.41034	0.992000	0.81027	0.819000	0.27308	1.967000	0.57214	0.650000	0.86243	TCA	ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37382767	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	nonsense	SNP	0.016	C	C	37382767	G	C	37382767	4	2	72	1	0	0	0	0	0	1	0	0	18212	1294	45	1	376	1	ZNF829	19	37382767	Nonsense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	27152393	37382767	21746216	71	10563										
ZNF222	7673	genome.wustl.edu	37	chr19	44536333	44536333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tcatcagagggtccacatggGagtgaaatgctataagtgtg	13	6	2	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:44536333G>A	ENST00000187879.8	+	4	668	c.506G>A	c.(505-507)gGa>gAa	p.G169E	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G209E	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTCCACATGGGAGTGAAATGC	0.428																																																	0													147	152	151					19																	44536333		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.506G>A	19.37:g.44536333G>A	ENSP00000187879:p.Gly169Glu		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G209E	ENST00000187879.8	37	c.626	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203429	0.79127	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.20069	2.1;2.1	2.79	1.67	0.24075	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33147	0.0853	L	0.39397	1.21	0.31134	N	0.707397	P;D	0.76494	0.929;0.999	B;D	0.68621	0.434;0.959	T	0.29852	-0.9998	9	0.72032	D	0.01	.	10.3664	0.44026	0.0:0.2032:0.7968:0.0	.	209;169	G5E9B9;Q9UK12	.;ZN222_HUMAN	E	209;169;115	ENSP00000375822:G209E;ENSP00000187879:G169E	ENSP00000187879:G169E	G	+	2	0	ZNF222	49228173	0.997000	0.39634	0.004000	0.12327	0.717000	0.41224	2.400000	0.44504	0.438000	0.26450	0.205000	0.17691	GGA	ZNF222	-	pfscan_Znf_C2H2		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	G			44536333	1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.955	A	A	44536333	G	A	44536333	3	1	72	1	0	0	0	0	1	0	0	0	17806	1174	41	1	659	1	ZNF222	19	44536333	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	7153566	44536333	14592650	72	10564										
ZNF582	147948	genome.wustl.edu	37	chr19	56896548	56896548	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cttggtatcatatctggactCcaatactaagaatgaaaaaa	6	7	2	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:56896548C>G	ENST00000301310.4	-	5	396	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.E80Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TATCTGGACTCCAATACTAAG	0.353																																					Ovarian(183;1887 2032 4349 30507 51343)												0													42	44	43					19																	56896548		2199	4300	6499	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.238G>C	19.37:g.56896548C>G	ENSP00000301310:p.Glu80Gln		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E80Q	ENST00000301310.4	37	c.238	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222564	0.22457	.	.	ENSG00000018869	ENST00000301310	T	0.07800	3.16	4.78	2.62	0.31277	.	0.701904	0.11738	N	0.534338	T	0.06917	0.0176	L	0.35341	1.055	0.09310	N	1	B;B	0.29378	0.243;0.243	B;B	0.23716	0.048;0.048	T	0.32295	-0.9912	10	0.48119	T	0.1	.	8.1573	0.31176	0.0:0.7548:0.1579:0.0873	.	80;111	Q96NG8;B4DQZ9	ZN582_HUMAN;.	Q	80	ENSP00000301310:E80Q	ENSP00000301310:E80Q	E	-	1	0	ZNF582	61588360	0.000000	0.05858	0.019000	0.16419	0.088000	0.18126	-0.341000	0.07811	0.710000	0.31997	0.591000	0.81541	GAG	ZNF582	-	NULL		0.353	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	C	NM_144690		56896548	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	missense	SNP	0.003	G	G	56896548	C	G	56896548	3	3	72	1	0	0	0	0	1	0	0	0	18044	864	30	1	1319	1	ZNF582	19	56896548	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	12360215	56896548	2232435	73	10565										
SIRPB1	10326	genome.wustl.edu	37	chr20	1559191	1559191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	tttctgattgtagattaattCccggcctgctccagctcctc	7	13	1	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:1559191C>T	ENST00000381605.4	-	2	290	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SIRPB1_ENST00000262929.5_Missense_Mutation_p.E75K|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E76K|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E76K	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	76	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGATTAATTCCCGGCCTGCT	0.507																																																	0													161	144	150					20																	1559191		2196	4242	6438	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.226G>A	20.37:g.1559191C>T	ENSP00000371018:p.Glu76Lys		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.E76K	ENST00000381605.4	37	c.226	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	8.721	0.914313	0.17907	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.67345	-0.26;-0.26;-0.26	2.36	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.767437	0.12104	N	0.499259	T	0.52058	0.1711	L	0.56199	1.76	0.09310	N	1	B;B	0.28512	0.095;0.214	B;B	0.32465	0.118;0.146	T	0.42361	-0.9456	10	0.14252	T	0.57	.	3.6672	0.08260	0.0:0.2708:0.4229:0.3063	.	76;76	O00241;O00241-2	SIRB1_HUMAN;.	K	76;76;75	ENSP00000371018:E76K;ENSP00000371016:E76K;ENSP00000262929:E75K	ENSP00000262929:E75K	E	-	1	0	SIRPB1	1507191	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.266000	0.02842	-0.472000	0.06881	0.462000	0.41574	GAA	SIRPB1	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like		0.507	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	C	NM_006065		1559191	-1	no_errors	ENST00000381605	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1559191	C	T	1559191	3	4	72	1	0	0	0	0	1	0	0	0	14363	864	30	1	986	1	SIRPB1	20	1559191	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09		1559191	61466329	74	10566										
C20orf3	57136	genome.wustl.edu	37	chr20	24949580	24949580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cagataagaaatccagcatgGaaaacccagggttagggcgg	13	8	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:24949580G>T	ENST00000217456.2	-	8	1279	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	330					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										ATCCAGCATGGAAAACCCAGG	0.458																																																	0													73	74	74					20																	24949580		2203	4300	6503	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.989C>A	20.37:g.24949580G>T	ENSP00000217456:p.Ser330Tyr		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.S330Y	ENST00000217456.2	37	c.989	CCDS13166.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.986255|3.986255	0.74589|0.74589	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456	.|T	.|0.26810	.|1.71	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Six-bladed beta-propeller, TolB-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57095|0.57095	0.2030|0.2030	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.70487	.|0.923;0.969	T|T	0.61955|0.61955	-0.6956|-0.6956	5|10	.|0.59425	.|D	.|0.04	-25.0044|-25.0044	17.3202|17.3202	0.87233|0.87233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|314;330	.|A2A2F9;Q9HDC9	.|.;APMAP_HUMAN	T|Y	315|330	.|ENSP00000217456:S330Y	.|ENSP00000217456:S330Y	P|S	-|-	1|2	0|0	C20orf3|C20orf3	24897580|24897580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.698000|9.698000	0.98700|0.98700	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	CCA|TCC	APMAP	-	NULL		0.458	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	HGNC	protein_coding	OTTHUMT00000078380.2	G	NM_020531		24949580	-1	no_errors	ENST00000217456	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24949580	G	T	24949580	3	4	72	1	0	0	0	0	1	0	0	0	2114	1174	41	3	269	3	C20orf3	20	24949580	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	23390389	24949580	38075940	75	10567										
C20orf132	140699	genome.wustl.edu	37	chr20	35742515	35742515	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	ctttatggcggctccaaagaGagtcacggagaaacgatgaa	12	8	1	3			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:35742515G>C	ENST00000400441.3	-	20	2568	c.2569C>G	c.(2569-2571)Ctc>Gtc	p.L857V	MROH8_ENST00000441008.2_Missense_Mutation_p.L843V|MROH8_ENST00000217333.8_Missense_Mutation_p.L686V			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GCTCCAAAGAGAGTCACGGAG	0.468																																																	0													75	71	72					20																	35742515		1879	4097	5976	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2569C>G	20.37:g.35742515G>C	ENSP00000383291:p.Leu857Val		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L857V	ENST00000400441.3	37	c.2569		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.902438|1.902438	0.33628|0.33628	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	T;T;T|.	0.67345|.	-0.25;1.35;-0.26|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.197868|.	0.36134|.	N|.	0.002780|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.69823|0.69823	2.125|2.125	0.44110|0.44110	D|D	0.996885|0.996885	P;B|.	0.42409|.	0.779;0.27|.	B;B|.	0.36766|.	0.232;0.225|.	T|T	0.72626|0.72626	-0.4236|-0.4236	10|5	0.51188|.	T|.	0.08|.	-7.2638|-7.2638	15.4256|15.4256	0.75048|0.75048	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	857;691|.	E7ETR9;Q9H579-2|.	.;.|.	V|C	843;857;686|484	ENSP00000392144:L843V;ENSP00000383291:L857V;ENSP00000217333:L686V|.	ENSP00000217333:L686V|.	L|S	-|-	1|2	0|0	C20orf132|C20orf132	35175929|35175929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.394000|0.394000	0.30568|0.30568	2.179000|2.179000	0.42528|0.42528	2.711000|2.711000	0.92665|0.92665	0.609000|0.609000	0.83330|0.83330	CTC|TCT	C20orf132	-	superfamily_ARM-type_fold		0.468	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		G	NM_152503		35742515	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35742515	G	C	35742515	3	2	72	1	0	0	0	0	1	0	0	0	2091	942	33	1	579	1	C20orf132	20	35742515	Missense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	10792935	35742515	27283005	76	10568										
CABIN1	23523	genome.wustl.edu	37	chr22	24562874	24562874	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gcccacgggcagggcccactGagcccatggacacgagtgag	15	14	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:24562874G>T	ENST00000398319.2	+	32	5660	c.5275G>T	c.(5275-5277)Gag>Tag	p.E1759*	CABIN1_ENST00000337989.7_Nonsense_Mutation_p.E184*|CABIN1_ENST00000405822.2_Nonsense_Mutation_p.E1680*|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E1759*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1759					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGGCCCACTGAGCCCATGGA	0.667																																																	0													31	32	31					22																	24562874		2193	4296	6489	SO:0001587	stop_gained	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5275G>T	22.37:g.24562874G>T	ENSP00000381364:p.Glu1759*		G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1759*	ENST00000398319.2	37	c.5275	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.023618	0.97211	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	.	.	.	4.87	4.87	0.63330	.	0.060881	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.4537	0.87600	0.0:0.0:1.0:0.0	.	.	.	.	X	1759;1680;1759;184;184	.	ENSP00000263119:E1759X	E	+	1	0	CABIN1	22892874	1.000000	0.71417	0.902000	0.35471	0.345000	0.29048	8.706000	0.91362	2.433000	0.82419	0.456000	0.33151	GAG	CABIN1	-	NULL		0.667	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	G	NM_012295		24562874	1	no_errors	ENST00000263119	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	24562874	G	T	24562874	4	4	72	1	0	0	0	0	0	1	0	0	2533	1291	45	3	5397	3	CABIN1	22	24562874	Nonsense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		24562874	26741692	77	10569										
PIWIL3	440822	genome.wustl.edu	37	chr22	25144974	25144974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cccagagttgaagtaactctCgtacttttttattactgaaa	6	8	1	3	rs141396207	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:25144974C>T	ENST00000332271.5	-	12	1765	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	PIWIL3_ENST00000533313.1_Missense_Mutation_p.R341Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R341Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	450					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGTAACTCTCGTACTTTTTT	0.358													C|||	2	0.000399361	0.0015	0	5008	,	,		19702	0		0	False		,,,				2504	0																0								C	GLN/ARG	0,4406		0,0,2203	61	61	61		1349	1.1	0	22	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIWIL3	NM_001008496.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	450/883	25144974	1,13005	2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1349G>A	22.37:g.25144974C>T	ENSP00000330031:p.Arg450Gln			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R450Q	ENST00000332271.5	37	c.1349	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.662969	0.00772	0.0	1.16E-4	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12984	2.63;2.63;2.63	2.29	1.06	0.20224	Ribonuclease H-like (1);	0.304714	0.31020	N	0.008412	T	0.03011	0.0089	N	0.01242	-0.935	0.09310	N	1	B;B;B	0.24483	0.035;0.015;0.104	B;B;B	0.15484	0.003;0.001;0.013	T	0.43940	-0.9360	10	0.08381	T	0.77	-1.0893	5.6772	0.17755	0.0:0.1542:0.0:0.8458	.	341;450;450	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	450;341;341	ENSP00000330031:R450Q;ENSP00000431843:R341Q;ENSP00000435718:R341Q	ENSP00000330031:R450Q	R	-	2	0	PIWIL3	23474974	0.447000	0.25673	0.001000	0.08648	0.003000	0.03518	1.057000	0.30492	0.311000	0.23014	-0.657000	0.03884	CGA	PIWIL3	-	superfamily_RNaseH-like_dom		0.358	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	C	NM_001008496		25144974	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.009	T	T	25144974	C	T	25144974	3	4	72	1	0	0	0	0	1	0	0	0	11983	884	31	1	1339	1	PIWIL3	22	25144974	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	582100	25144974	26159592	78	10570										
THOC5	8563	genome.wustl.edu	37	chr22	29939420	29939420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aaaccttttaactactacctCgtgggtctgatctcttcctt	5	12	2	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:29939420C>T	ENST00000490103.1	-	4	474	c.352G>A	c.(352-354)Gag>Aag	p.E118K	THOC5_ENST00000397871.1_Missense_Mutation_p.E118K|THOC5_ENST00000397872.1_Missense_Mutation_p.E118K|THOC5_ENST00000397873.2_Missense_Mutation_p.E118K	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	118	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACTACTACCTCGTGGGTCTGA	0.403																																																	0													136	138	137					22																	29939420		2203	4300	6503	SO:0001583	missense	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.352G>A	22.37:g.29939420C>T	ENSP00000420306:p.Glu118Lys		O60839|Q9UPZ5	Missense_Mutation	SNP	pfam_THO_Thoc5	p.E118K	ENST00000490103.1	37	c.352	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978396	0.74360	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.47869	1.68;1.68;1.68;1.68;0.83	5.49	4.47	0.54385	.	0.113097	0.64402	D	0.000016	T	0.61602	0.2360	L	0.54323	1.7	0.80722	D	1	P;D	0.89917	0.937;1.0	B;D	0.73380	0.275;0.98	T	0.59182	-0.7502	10	0.32370	T	0.25	-14.6375	14.0151	0.64519	0.0:0.9274:0.0:0.0726	.	118;118	F8WCP5;Q13769	.;THOC5_HUMAN	K	118;118;118;118;118;114;118	ENSP00000420306:E118K;ENSP00000380970:E118K;ENSP00000380969:E118K;ENSP00000380971:E118K;ENSP00000415425:E114K	ENSP00000444493:E118K	E	-	1	0	THOC5	28269420	1.000000	0.71417	0.991000	0.47740	0.567000	0.35839	7.548000	0.82154	1.323000	0.45263	0.460000	0.39030	GAG	THOC5	-	pfam_THO_Thoc5		0.403	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	C	NM_003678		29939420	-1	no_errors	ENST00000397871	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29939420	C	T	29939420	3	4	72	1	0	0	0	0	1	0	0	0	15898	893	31	1	1767	1	THOC5	22	29939420	Missense_Mutation	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	4794446	29939420	21365146	79	10571										
RBM10	8241	genome.wustl.edu	37	chrX	47040952	47040952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	gccgactctgtgtcgatgcaGgctttctctcgcgcccagcc	11	16	2	0			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:47040952G>A	ENST00000377604.3	+	14	2224	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	RBM10_ENST00000345781.6_Silent_p.Q417Q|RBM10_ENST00000329236.7_Silent_p.Q416Q	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	494					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTCGATGCAGGCTTTCTCTC	0.632																																					Melanoma(171;120 2705 19495 39241)												0													33	27	29					X																	47040952		2203	4298	6501	SO:0001819	synonymous_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1482G>A	X.37:g.47040952G>A			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.Q494	ENST00000377604.3	37	c.1482	CCDS14274.1	X																																																																																			RBM10	-	NULL		0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47040952	1	no_errors	ENST00000377604	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47040952	G	A	47040952	2	1	72	1	0	0	0	0	0	0	0	1	13141	991	35	4		4	RBM10	23	47040952	Silent	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09		47040952	108229608	80	10572										
PHKA1	5255	genome.wustl.edu	37	chrX	71825220	71825220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	aaagaggccaggctgggttcGcatatacatggctagatata	12	7	0	2			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:71825220G>A	ENST00000373542.4	-	25	2875	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	PHKA1_ENST00000373539.3_Nonsense_Mutation_p.R906*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.R847*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.R847*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.R906*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	906					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGCTGGGTTCGCATATACATG	0.433													G|||	1	0.000264901	0	0	3775	,	,		14205	0		0.001	False		,,,				2504	0																0													95	78	84					X																	71825220		2203	4300	6503	SO:0001587	stop_gained	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2716C>T	X.37:g.71825220G>A	ENSP00000362643:p.Arg906*		B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R906*	ENST00000373542.4	37	c.2716	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	44	10.643650	0.99443	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.8	-0.384	0.12474	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7696	15.6069	0.76679	0.0:0.0:0.2058:0.7942	.	.	.	.	X	847;906;847;906;906	.	ENSP00000342469:R906X	R	-	1	2	PHKA1	71741945	0.032000	0.19561	0.995000	0.50966	0.982000	0.71751	-0.021000	0.12504	-0.204000	0.10235	0.594000	0.82650	CGA	PHKA1	-	pfam_Glyco_hydro_15		0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71825220	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	nonsense	SNP	0.981	A	A	71825220	G	A	71825220	4	1	72	1	0	0	0	0	0	1	0	0	11867	1095	38	2	987	2	PHKA1	23	71825220	Nonsense_Mutation	SNP	G	TCGA-EA-A3HR-01A-11D-A20U-09	24784268	71825220	83445340	81	10573										
PCDH11X	27328	genome.wustl.edu	37	chrX	91873933	91873933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353658536585366	29	5.0150081725039e-09	3.31975679916318	6.03347280334728	2.33819994658595	1	1	20	cccattatggaagaacatccCttgtaaagctaaaatagtta	6	8	0	1			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:91873933C>T	ENST00000373094.1	+	7	4883	c.4038C>T	c.(4036-4038)ccC>ccT	p.P1346P	PCDH11X_ENST00000361655.2_Silent_p.P1328P|PCDH11X_ENST00000373097.1_Silent_p.P1336P|PCDH11X_ENST00000373088.1_Silent_p.P1309P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Silent_p.P1309P|PCDH11X_ENST00000406881.1_Silent_p.P1338P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1346					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGAACATCCCTTGTAAAGCT	0.358																																					NSCLC(38;925 1092 2571 38200 45895)												0													76	75	76					X																	91873933		2203	4299	6502	SO:0001819	synonymous_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.4038C>T	X.37:g.91873933C>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1346	ENST00000373094.1	37	c.4038	CCDS14461.1	X																																																																																			PCDH11X	-	NULL		0.358	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91873933	1	no_errors	ENST00000373094	ensembl	human	known	70_37	silent	SNP	0.861	T	T	91873933	C	T	91873933	2	4	72	1	0	0	0	0	0	0	0	1	11532	668	24	4		4	PCDH11X	23	91873933	Silent	SNP	C	TCGA-EA-A3HR-01A-11D-A20U-09	20048713	91873933	63396627	82	10574										
HPCAL4	51440	genome.wustl.edu	37	chr1	40149741	40149741	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agggcgcagatgaactcccgGaagtcgatggtgccgtcgcc	15	12	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:40149741G>A	ENST00000372844.3	-	3	637	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGAACTCCCGGAAGTCGATGG	0.647																																																	0													54	52	53					1																	40149741		2203	4300	6503	SO:0001819	synonymous_variant	51440			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.246C>T	1.37:g.40149741G>A			B2R5U2|D3DPU1|Q5TG97|Q8N611	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.F82	ENST00000372844.3	37	c.246	CCDS441.1	1																																																																																			HPCAL4	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.647	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	G	NM_016257		40149741	-1	no_errors	ENST00000372844	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40149741	G	A	40149741	2	1	73	1	0	0	0	0	0	0	0	1	7351	1165	41	1		1	HPCAL4	1	40149741	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		40149741	209100880	1	10575										
HAX1	10456	genome.wustl.edu	37	chr1	154245995	154245995	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atacgtttccacgataacttCggctttgatgacctagtacg	8	10	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:154245995C>T	ENST00000328703.7	+	2	450	c.237C>T	c.(235-237)ttC>ttT	p.F79F	HAX1_ENST00000457918.2_Silent_p.F31F|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Silent_p.F79F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	79					cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGATAACTTCGGCTTTGATG	0.542									Kostmann syndrome																																								0													104	95	98					1																	154245995		2203	4300	6503	SO:0001819	synonymous_variant	10456	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.237C>T	1.37:g.154245995C>T			A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	pirsf_HS1--assoc_X-1	p.F79	ENST00000328703.7	37	c.237	CCDS1064.1	1																																																																																			HAX1	-	pirsf_HS1--assoc_X-1		0.542	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	C	NM_006118		154245995	1	no_errors	ENST00000483970	ensembl	human	known	70_37	silent	SNP	0.997	T	T	154245995	C	T	154245995	2	4	73	1	0	0	0	0	0	0	0	1	6995	883	31	1		1	HAX1	1	154245995	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	114096254	154245995	95004626	2	10576										
TRIM46	80128	genome.wustl.edu	37	chr1	155148617	155148617	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	acagagtgccgcgccaccttCtgcaatgagtgcttcaagct	10	13	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:155148617C>T	ENST00000334634.4	+	3	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F	KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000543729.1_Silent_p.F200F|TRIM46_ENST00000545012.1_Silent_p.F67F|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Silent_p.F193F|TRIM46_ENST00000392451.2_Silent_p.F193F|KRTCAP2_ENST00000490672.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368385.4_Silent_p.F193F|TRIM46_ENST00000368382.1_Silent_p.F170F	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	193						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCCACCTTCTGCAATGAGT	0.637																																																	0													75	71	72					1																	155148617		2203	4300	6503	SO:0001819	synonymous_variant	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.579C>T	1.37:g.155148617C>T			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.F193	ENST00000334634.4	37	c.579	CCDS1097.1	1																																																																																			TRIM46	-	NULL		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	C	NM_025058		155148617	1	no_errors	ENST00000334634	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155148617	C	T	155148617	2	4	73	1	0	0	0	0	0	0	0	1	16552	912	32	1		1	TRIM46	1	155148617	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	902622	155148617	94102004	3	10577										
POGK	57645	genome.wustl.edu	37	chr1	166810229	166810229	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	taccctctcaatttgagcctGaaagaagaggaagaggaaga	11	7	1	6			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:166810229G>A	ENST00000367875.1	+	2	396	c.36G>A	c.(34-36)ctG>ctA	p.L12L	POGK_ENST00000367876.4_Silent_p.L12L|POGK_ENST00000537173.1_5'UTR|POGK_ENST00000536514.1_5'UTR			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	12					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ATTTGAGCCTGAAAGAAGAGG	0.512																																					GBM(76;192 1530 30153 48742)												0													109	115	113					1																	166810229		2203	4300	6503	SO:0001819	synonymous_variant	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.36G>A	1.37:g.166810229G>A			Q5TIJ1|Q8TE07	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L12	ENST00000367875.1	37	c.36	CCDS1254.1	1																																																																																			POGK	-	NULL		0.512	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	G	NM_017542		166810229	1	no_errors	ENST00000367875	ensembl	human	known	70_37	silent	SNP	1.000	A	A	166810229	G	A	166810229	2	1	73	1	0	0	0	0	0	0	0	1	12209	1277	45	1		1	POGK	1	166810229	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	11661612	166810229	82440392	4	10578										
KCNT2	343450	genome.wustl.edu	37	chr1	196342292	196342292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccctctagaggtatgaaccaGtagtgtaataagtgtagatg	11	6	1	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:196342292G>T	ENST00000294725.9	-	14	2296	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	KCNT2_ENST00000367433.5_Missense_Mutation_p.L461M|KCNT2_ENST00000367431.4_Missense_Mutation_p.L461M|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L461M|KCNT2_ENST00000451324.2_Missense_Mutation_p.L72M			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	461	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTATGAACCAGTAGTGTAATA	0.289																																																	0													89	88	88					1																	196342292		2203	4293	6496	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1381C>A	1.37:g.196342292G>T	ENSP00000294725:p.Leu461Met		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.L461M	ENST00000294725.9	37	c.1381	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675961	0.67928	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.74	4.73	0.59995	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.49916	D	0.000138	D	0.82472	0.5044	M	0.79123	2.44	0.53005	D	0.999968	D;D;P;D	0.69078	0.997;0.989;0.764;0.997	D;D;P;D	0.78314	0.991;0.935;0.665;0.991	D	0.83929	0.0305	10	0.87932	D	0	-10.2299	11.6042	0.51022	0.1172:0.0:0.8828:0.0	.	461;461;461;461	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	M	461;461;282;72;461	ENSP00000356403:L461M;ENSP00000356401:L461M;ENSP00000405474:L72M;ENSP00000294725:L461M	ENSP00000294725:L461M	L	-	1	2	KCNT2	194608915	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.238000	0.43070	2.728000	0.93425	0.650000	0.86243	CTG	KCNT2	-	pfam_K_chnl_Ca-activ_BK_asu		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	G	NM_198503		196342292	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	missense	SNP	0.999	T	T	196342292	G	T	196342292	3	4	73	1	0	0	0	0	1	0	0	0	8112	1020	36	4	2086	4	KCNT2	1	196342292	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	29532063	196342292	52908329	5	10579										
CFHR5	81494	genome.wustl.edu	37	chr1	196977806	196977806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gaaatttgaatatcctatatGtgaatgaagcaagcataatt	7	4	0	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:196977806G>A	ENST00000256785.4	+	10	1812	c.1703G>A	c.(1702-1704)tGt>tAt	p.C568Y	CFHR5_ENST00000367414.5_Missense_Mutation_p.C592Y			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	568	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TATCCTATATGTGAATGAAGC	0.343																																																	0													87	82	84					1																	196977806		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1703G>A	1.37:g.196977806G>A	ENSP00000256785:p.Cys568Tyr		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.C592Y	ENST00000256785.4	37	c.1775	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612465	0.46631	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.99422	-5.88;-5.88	4.62	3.7	0.42460	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	D	0.99456	0.9807	M	0.87827	2.91	0.20403	N	0.999902	D	0.89917	1.0	D	0.87578	0.998	D	0.97365	0.9972	9	0.87932	D	0	.	8.845	0.35164	0.1085:0.0:0.8915:0.0	.	568	Q9BXR6	FHR5_HUMAN	Y	592;568	ENSP00000356384:C592Y;ENSP00000256785:C568Y	ENSP00000256785:C568Y	C	+	2	0	CFHR5	195244429	0.978000	0.34361	0.242000	0.24170	0.013000	0.08279	1.840000	0.39230	1.049000	0.40321	0.561000	0.74099	TGT	CFHR5	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.343	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196977806	1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.415	A	A	196977806	G	A	196977806	3	1	73	1	0	0	0	0	1	0	0	0	3293	1377	48	4	1741	4	CFHR5	1	196977806	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	635514	196977806	52272815	6	10580										
CTSE	1510	genome.wustl.edu	37	chr1	206325421	206325421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tggtggacttgccgatgtttTctgtctacatgagcaggtaa	12	7	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:206325421T>C	ENST00000358184.2	+	5	764	c.646T>C	c.(646-648)Tct>Cct	p.S216P	CTSE_ENST00000361052.3_Missense_Mutation_p.S221P|CTSE_ENST00000432969.2_Missense_Mutation_p.S141P|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.S216P	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	221					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCGATGTTTTCTGTCTACAT	0.478																																																	0													125	107	113					1																	206325421		2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.646T>C	1.37:g.206325421T>C	ENSP00000350911:p.Ser216Pro		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.S221P	ENST00000358184.2	37	c.661	CCDS1462.1	1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044963	0.55110	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.71698	-0.59;-0.59;-0.38;-0.37	5.29	4.15	0.48705	.	0.000000	0.64402	D	0.000001	D	0.88388	0.6423	H	0.97587	4.035	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70227	0.968;0.946;0.955	D	0.90569	0.4521	10	0.87932	D	0	.	11.3651	0.49666	0.136:0.0:0.0:0.864	.	141;216;216	B4DNU8;P14091-2;P14091-1	.;.;.	P	216;221;216;141	ENSP00000350911:S216P;ENSP00000354337:S221P;ENSP00000353350:S216P;ENSP00000394607:S141P	ENSP00000350911:S216P	S	+	1	0	CTSE	204492044	1.000000	0.71417	0.999000	0.59377	0.306000	0.27790	4.421000	0.59848	1.006000	0.39211	0.533000	0.62120	TCT	CTSE	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.478	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087998.1	T	NM_001910		206325421	1	no_errors	ENST00000361052	ensembl	human	known	70_37	missense	SNP	1.000	C	C	206325421	T	C	206325421	3	2	73	1	0	0	0	0	1	0	0	0	4038	1783	62	5	664	5	CTSE	1	206325421	Missense_Mutation	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	9347615	206325421	42925200	7	10581										
LIN9	286826	genome.wustl.edu	37	chr1	226438593	226438593	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tttcttgatatgttccttttTaatcatgagaatttttgata	5	4	2	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:226438593T>A	ENST00000328205.5	-	11	1659	c.1114A>T	c.(1114-1116)Aaa>Taa	p.K372*	LIN9_ENST00000481685.1_Nonsense_Mutation_p.K337*|LIN9_ENST00000366801.1_Nonsense_Mutation_p.K321*	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	356					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGTTCCTTTTTAATCATGAGA	0.264																																					Ovarian(197;1696 2974 11248 14117)												0													68	70	70					1																	226438593		2188	4291	6479	SO:0001587	stop_gained	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1114A>T	1.37:g.226438593T>A	ENSP00000329102:p.Lys372*		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Nonsense_Mutation	SNP	pfam_DIRP	p.K372*	ENST00000328205.5	37	c.1114	CCDS1553.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.973342|5.973342	0.97162|0.97162	.|.	.|.	ENSG00000183814|ENSG00000183814	ENST00000366807|ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	15.6045|15.6045	0.76652|0.76652	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|X	-1|332;372;427;321;337	.|.	.|ENSP00000329102:K372X	.|K	-|-	.|1	.|0	LIN9|LIN9	224505216|224505216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.642000|6.642000	0.74329|0.74329	2.171000|2.171000	0.68590|0.68590	0.528000|0.528000	0.53228|0.53228	.|AAA	LIN9	-	NULL		0.264	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	T	NM_173083		226438593	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	226438593	T	A	226438593	4	1	73	1	0	0	0	0	0	1	0	0	8834	1763	61	5	582	5	LIN9	1	226438593	Nonsense_Mutation	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	20113172	226438593	22812028	8	10582										
TARBP1	6894	genome.wustl.edu	37	chr1	234565269	234565269	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agtccttattggcatctgaaCggcaggtagaaacggttcca	11	9	1	2	rs563481719		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:234565269C>G	ENST00000040877.1	-	16	2763	c.2764G>C	c.(2764-2766)Gtt>Ctt	p.V922L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	922					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCATCTGAACGGCAGGTAGA	0.428																																																	0													99	101	100					1																	234565269		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2764G>C	1.37:g.234565269C>G	ENSP00000040877:p.Val922Leu		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.V922L	ENST00000040877.1	37	c.2764	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730186	0.15507	.	.	ENSG00000059588	ENST00000040877	T	0.05199	3.48	5.58	1.55	0.23275	.	0.834930	0.10553	N	0.661256	T	0.05731	0.0150	L	0.51422	1.61	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.47341	-0.9125	10	0.18276	T	0.48	-14.2886	2.7532	0.05286	0.1285:0.5432:0.1243:0.204	.	922	Q13395	TARB1_HUMAN	L	922	ENSP00000040877:V922L	ENSP00000040877:V922L	V	-	1	0	TARBP1	232631892	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.863000	0.04259	0.098000	0.17522	0.655000	0.94253	GTT	TARBP1	-	NULL		0.428	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646		234565269	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	0.000	G	G	234565269	C	G	234565269	3	3	73	1	0	0	0	0	1	0	0	0	15585	536	19	2	2161	2	TARBP1	1	234565269	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	8126676	234565269	14685352	9	10583										
COLEC11	78989	genome.wustl.edu	37	chr2	3691113	3691113	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tctcagctgaccagcgagctCaagttcatcaagaatggtat	9	10	4	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:3691113C>T	ENST00000349077.4	+	6	511	c.408C>T	c.(406-408)ctC>ctT	p.L136L	COLEC11_ENST00000418971.2_Silent_p.L150L|COLEC11_ENST00000382062.2_Silent_p.L112L|COLEC11_ENST00000404205.1_Silent_p.L62L|COLEC11_ENST00000402922.1_Silent_p.L86L|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Silent_p.L110L|COLEC11_ENST00000402794.1_Silent_p.L86L|COLEC11_ENST00000236693.7_Silent_p.L133L	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	136					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCAGCGAGCTCAAGTTCATCA	0.682																																																	0													82	68	73					2																	3691113		2203	4300	6503	SO:0001819	synonymous_variant	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.408C>T	2.37:g.3691113C>T			A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L150	ENST00000349077.4	37	c.450	CCDS1649.1	2																																																																																			COLEC11	-	NULL		0.682	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	C	NM_024027		3691113	1	no_errors	ENST00000418971	ensembl	human	known	70_37	silent	SNP	0.844	T	T	3691113	C	T	3691113	2	4	73	1	0	0	0	0	0	0	0	1	3716	813	29	1		1	COLEC11	2	3691113	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		3691113	239508260	10	10584										
PLB1	151056	genome.wustl.edu	37	chr2	28812907	28812908	+	In_Frame_Ins	INS	-	-	TTT													0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agaagacgactcgtcataagINStttgaaaacaagatcaatat							TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:28812907_28812908insTTT	ENST00000327757.5	+	29	2096_2097	c.2052_2053insTTT	c.(2053-2055)ttt>TTTttt	p.685_685F>FF	PLB1_ENST00000329020.6_In_Frame_Ins_p.373_373F>FF|PLB1_ENST00000422425.2_In_Frame_Ins_p.674_674F>FF	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	685	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTCGTCATAAGTTTGAAAACAA	0.52																																																	0																																										SO:0001652	inframe_insertion	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2053_2055dupTTT	2.37:g.28812908_28812910dupTTT	ENSP00000330442:p.Phe685dup		A8KAX2|Q53S03|Q8IUP7|Q96DP9	In_Frame_Ins	INS	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.674in_frame_insF	ENST00000327757.5	37	c.2019_2020	CCDS33168.1	2																																																																																			PLB1	-	NULL		0.52	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-			28812908	1	no_errors	ENST00000422425	ensembl	human	known	70_37	in_frame_ins	INS	0.053:0.857	TTT	TTT	28812908	-	TTT	28812907	7	5	73	1	0	1	1	0	0	0	0	0	12048	1020	36	0	2199	0	PLB1	2	28812907	In_Frame_Ins	INS	-	TCGA-EA-A3HT-01A-61D-A21Q-09	25121794	28812907	214386466	11	10585										
LRPPRC	10128	genome.wustl.edu	37	chr2	44161914	44161914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tttctgaattagatcagtctCgcctttctctaccagtttac	5	11	4	2	rs372127413		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:44161914C>T	ENST00000260665.7	-	24	2665	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	870					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATCAGTCTCGCCTTTCTCT	0.358																																																	0													123	118	120					2																	44161914		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2608G>A	2.37:g.44161914C>T	ENSP00000260665:p.Glu870Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E870K	ENST00000260665.7	37	c.2608	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992939	0.54041	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56941	0.43	5.93	5.03	0.67393	.	0.054722	0.64402	D	0.000001	T	0.37999	0.1024	L	0.36672	1.1	0.80722	D	1	B;B	0.25312	0.021;0.123	B;B	0.15484	0.011;0.013	T	0.16660	-1.0395	10	0.11182	T	0.66	-7.0443	11.2064	0.48771	0.0:0.8461:0.0:0.1539	.	770;870	F5H4J6;P42704	.;LPPRC_HUMAN	K	770;870	ENSP00000260665:E870K	ENSP00000260665:E870K	E	-	1	0	LRPPRC	44015418	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	1.767000	0.38501	1.452000	0.47756	0.591000	0.81541	GAG	LRPPRC	-	NULL		0.358	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44161914	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44161914	C	T	44161914	3	4	73	1	0	0	0	0	1	0	0	0	8988	893	31	1	1636	1	LRPPRC	2	44161914	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	15349007	44161914	199037459	12	10586										
REG1A	5967	genome.wustl.edu	37	chr2	79348029	79348029	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttcatgctgatctcctgcctGatgtttctgtctcagagcca	8	12	4	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:79348029G>A	ENST00000233735.1	+	2	145	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	14					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCTCCTGCCTGATGTTTCTGT	0.458																																																	0													120	100	107					2																	79348029		2203	4300	6503	SO:0001819	synonymous_variant	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.42G>A	2.37:g.79348029G>A			P11379|Q4ZG28	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.L14	ENST00000233735.1	37	c.42	CCDS1964.1	2																																																																																			REG1A	-	NULL		0.458	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	G	NM_002909		79348029	1	no_errors	ENST00000233735	ensembl	human	known	70_37	silent	SNP	0.117	A	A	79348029	G	A	79348029	2	1	73	1	0	0	0	0	0	0	0	1	13240	1277	45	1		1	REG1A	2	79348029	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	35186115	79348029	163851344	13	10587										
POTEF	728378	genome.wustl.edu	37	chr2	130877823	130877823	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tcctgagtgtcttcatagcaGagtcgtcgtggtctccagaa	11	10	3	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:130877823G>C	ENST00000409914.2	-	3	665	c.266C>G	c.(265-267)tCt>tGt	p.S89C	POTEF_ENST00000361163.4_Missense_Mutation_p.S89C|POTEF_ENST00000360967.5_Missense_Mutation_p.S89C|POTEF_ENST00000357462.5_Missense_Mutation_p.S89C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	89					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCATAGCAGAGTCGTCGTG	0.617																																																	0													93	119	110					2																	130877823		2203	4294	6497	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.266C>G	2.37:g.130877823G>C	ENSP00000386786:p.Ser89Cys		A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.S89C	ENST00000409914.2	37	c.266	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	8.751	0.921295	0.17982	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78816	-1.21;-1.21;1.62;1.27	0.62	-0.589	0.11683	.	.	.	.	.	T	0.77883	0.4197	L	0.61218	1.895	0.09310	N	1	D	0.62365	0.991	P	0.52710	0.707	T	0.67209	-0.5728	8	0.87932	D	0	.	.	.	.	.	89	A5A3E0	POTEF_HUMAN	C	89	ENSP00000350052:S89C;ENSP00000386786:S89C;ENSP00000354232:S89C;ENSP00000355012:S89C	ENSP00000350052:S89C	S	-	2	0	POTEF	130594293	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	-0.132000	0.10467	-0.285000	0.09089	0.164000	0.16699	TCT	POTEF	-	NULL		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	G	NM_001099771		130877823	-1	no_errors	ENST00000357462	ensembl	human	known	70_37	missense	SNP	0.005	C	C	130877823	G	C	130877823	3	2	73	1	0	0	0	0	1	0	0	0	12289	942	33	1	3021	1	POTEF	2	130877823	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	51529794	130877823	112321550	14	10588										
CXCR4	7852	genome.wustl.edu	37	chr2	136873458	136873458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gtcccctgagcccatttcctCggtgtagttatctgaagtgt	10	11	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:136873458C>T	ENST00000241393.3	-	2	144	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.E18K	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	14	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CCCATTTCCTCGGTGTAGTTA	0.393																																																	0													68	74	72					2																	136873458		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.40G>A	2.37:g.136873458C>T	ENSP00000241393:p.Glu14Lys		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.E18K	ENST00000241393.3	37	c.52	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165633	0.57476	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.59772	0.24;0.24	5.88	5.88	0.94601	CXC chemokine receptor, type 4, N-terminal (1);	26.402500	0.00166	N	0.000000	T	0.47116	0.1428	L	0.27053	0.805	0.52501	D	0.999953	P;P	0.43519	0.676;0.809	B;B	0.31495	0.131;0.084	T	0.43343	-0.9397	10	0.33940	T	0.23	.	13.4253	0.61022	0.0:0.9285:0.0:0.0715	.	14;18	P61073;P61073-2	CXCR4_HUMAN;.	K	18;14	ENSP00000386884:E18K;ENSP00000241393:E14K	ENSP00000241393:E14K	E	-	1	0	CXCR4	136589928	0.997000	0.39634	0.928000	0.36995	0.919000	0.55068	4.369000	0.59511	2.789000	0.95967	0.655000	0.94253	GAG	CXCR4	-	pfam_Chemokine_CXCR4_N		0.393	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	C			136873458	-1	no_errors	ENST00000409817	ensembl	human	known	70_37	missense	SNP	0.936	T	T	136873458	C	T	136873458	3	4	73	1	0	0	0	0	1	0	0	0	4098	893	31	1	1022	1	CXCR4	2	136873458	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	5995635	136873458	106325915	15	10589										
THSD7B	80731	genome.wustl.edu	37	chr2	138414450	138414450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aagctttgagactgtgggccGccagtctagatcaaggactt	12	9	2	2	rs565075278		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:138414450G>A	ENST00000409968.1	+	23	4368	c.4190G>A	c.(4189-4191)cGc>cAc	p.R1397H	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1400H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1369H|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1399	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGTGGGCCGCCAGTCTAGA	0.473													G|||	1	0.000199681	0	0	5008	,	,		18162	0		0	False		,,,				2504	0.001																0													76	78	77					2																	138414450		1901	4110	6011	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4190G>A	2.37:g.138414450G>A	ENSP00000387145:p.Arg1397His			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1400H	ENST00000409968.1	37	c.4199		2	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127326	0.37533	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.52295	0.67;0.67;0.67	6.17	3.42	0.39159	.	0.148840	0.64402	N	0.000006	T	0.29028	0.0721	L	0.31294	0.92	0.80722	D	1	P	0.46142	0.873	B	0.36464	0.225	T	0.04191	-1.0970	10	0.14656	T	0.56	.	10.8535	0.46784	0.1999:0.0:0.8001:0.0	.	1369	C9JKN6	.	H	1397;1400;1369	ENSP00000387145:R1397H;ENSP00000272643:R1400H;ENSP00000413841:R1369H	ENSP00000272643:R1400H	R	+	2	0	THSD7B	138130920	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	3.203000	0.51075	0.938000	0.37419	0.655000	0.94253	CGC	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138414450	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138414450	G	A	138414450	3	1	73	1	0	0	0	0	1	0	0	0	15910	1087	38	2	4188	2	THSD7B	2	138414450	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	1540992	138414450	104784923	16	10590										
ZEB2	9839	genome.wustl.edu	37	chr2	145157705	145157705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cagaattaggggaagaacccGtcttgatattgtttctcatt	9	7	2	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:145157705G>T	ENST00000558170.2	-	8	2233	c.1049C>A	c.(1048-1050)aCg>aAg	p.T350K	ZEB2_ENST00000539609.3_Missense_Mutation_p.T326K|ZEB2_ENST00000409487.3_Missense_Mutation_p.T350K|ZEB2_ENST00000303660.4_Missense_Mutation_p.T350K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	350					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.T350M(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAGAACCCGTCTTGATATT	0.393																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	endometrium(1)											65	65	65					2																	145157705		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1049C>A	2.37:g.145157705G>T	ENSP00000454157:p.Thr350Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.T350K	ENST00000558170.2	37	c.1049	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448535	0.63178	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.14391	2.52;2.51;2.51;2.62;2.62	5.64	5.64	0.86602	.	0.094045	0.64402	D	0.000001	T	0.20659	0.0497	N	0.11064	0.09	0.80722	D	1	P;D;P;D	0.63046	0.767;0.961;0.798;0.992	P;P;B;P	0.62491	0.544;0.67;0.319;0.903	T	0.17410	-1.0370	10	0.87932	D	0	-8.6853	19.7156	0.96119	0.0:0.0:1.0:0.0	.	326;215;349;350	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	K	345;326;350;350;350;350	ENSP00000443792:T326K;ENSP00000302501:T350K;ENSP00000386854:T350K;ENSP00000395496:T350K;ENSP00000376601:T350K	ENSP00000302501:T350K	T	-	2	0	ZEB2	144874175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.658000	0.90341	0.655000	0.94253	ACG	ZEB2	-	NULL		0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145157705	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145157705	G	T	145157705	3	4	73	1	0	0	0	0	1	0	0	0	17654	1145	40	2	2607	2	ZEB2	2	145157705	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	6743255	145157705	98041668	17	10591										
SLC25A12	8604	genome.wustl.edu	37	chr2	172690498	172690498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agcattatataagtctgcaaGctgatatagaatatcaattt	6	5	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:172690498G>T	ENST00000422440.2	-	8	857	c.820C>A	c.(820-822)Ctt>Att	p.L274I	SLC25A12_ENST00000392592.4_Missense_Mutation_p.L167I	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	274					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|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)	integral component of membrane (GO:0016021)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGTCTGCAAGCTGATATAGA	0.338																																																	0													85	92	90					2																	172690498		2203	4298	6501	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.820C>A	2.37:g.172690498G>T	ENSP00000388658:p.Leu274Ile		B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L274I	ENST00000422440.2	37	c.820	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916245	0.73098	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.80909	-1.43;-1.41	5.31	5.31	0.75309	.	0.116047	0.64402	D	0.000020	D	0.86264	0.5891	M	0.88704	2.975	0.80722	D	1	P;P	0.50156	0.932;0.932	P;P	0.45037	0.467;0.467	D	0.88757	0.3254	10	0.54805	T	0.06	-16.4458	18.9409	0.92605	0.0:0.0:1.0:0.0	.	167;274	B3KR64;O75746	.;CMC1_HUMAN	I	274;167	ENSP00000388658:L274I;ENSP00000376371:L167I	ENSP00000376371:L167I	L	-	1	0	SLC25A12	172398744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.866000	0.87056	2.635000	0.89317	0.650000	0.86243	CTT	SLC25A12	-	NULL		0.338	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172690498	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172690498	G	T	172690498	3	4	73	1	0	0	0	0	1	0	0	0	14504	971	34	4	1260	4	SLC25A12	2	172690498	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	27532793	172690498	70508875	18	10592										
SMARCAL1	50485	genome.wustl.edu	37	chr2	217279674	217279674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tcagtagctcatctaatgctGaccaaagacctcatgattcc	6	12	4	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:217279674G>A	ENST00000357276.4	+	3	577	c.247G>A	c.(247-249)Gac>Aac	p.D83N	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCTAATGCTGACCAAAGACC	0.483									Schimke Immuno-Osseous Dysplasia																																								0													67	70	69					2																	217279674		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.247G>A	2.37:g.217279674G>A	ENSP00000349823:p.Asp83Asn		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D83N	ENST00000357276.4	37	c.247	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145446	0.37825	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.75	1.97	0.26223	.	0.820054	0.10944	N	0.616843	T	0.16428	0.0395	L	0.32530	0.975	0.09310	N	1	B	0.31125	0.309	B	0.22386	0.039	T	0.19224	-1.0312	10	0.54805	T	0.06	-4.8712	5.4503	0.16560	0.2517:0.1488:0.5995:0.0	.	83	Q9NZC9	SMAL1_HUMAN	N	83	ENSP00000405077:D83N;ENSP00000349823:D83N;ENSP00000398969:D83N;ENSP00000350940:D83N;ENSP00000402967:D83N	ENSP00000349823:D83N	D	+	1	0	SMARCAL1	216987919	0.344000	0.24827	0.322000	0.25334	0.638000	0.38207	1.192000	0.32150	0.236000	0.21180	0.563000	0.77884	GAC	SMARCAL1	-	NULL		0.483	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	G			217279674	1	no_errors	ENST00000357276	ensembl	human	known	70_37	missense	SNP	0.011	A	A	217279674	G	A	217279674	3	1	73	1	0	0	0	0	1	0	0	0	14803	1290	45	1	249	1	SMARCAL1	2	217279674	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	44589176	217279674	25919699	19	10593										
SPHKAP	80309	genome.wustl.edu	37	chr2	228882421	228882421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cgtccaccatagagaactccGttaggttcatgatcttggct	9	11	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:228882421G>A	ENST00000392056.3	-	7	3195	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1050M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1050						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGAGAACTCCGTTAGGTTCAT	0.542																																																	0													78	75	76					2																	228882421		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3149C>T	2.37:g.228882421G>A	ENSP00000375909:p.Thr1050Met		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.T1050M	ENST00000392056.3	37	c.3149	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886442	0.33348	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.15718	2.4;2.41	6.08	5.19	0.71726	.	0.299534	0.41605	D	0.000860	T	0.30166	0.0756	L	0.27053	0.805	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.78314	0.964;0.826;0.991	T	0.14117	-1.0484	10	0.87932	D	0	.	15.7626	0.78096	0.0:0.0:0.8626:0.1374	.	81;1050;1050	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1050	ENSP00000375909:T1050M;ENSP00000339886:T1050M	ENSP00000339886:T1050M	T	-	2	0	SPHKAP	228590665	1.000000	0.71417	0.003000	0.11579	0.077000	0.17291	7.181000	0.77682	1.549000	0.49425	0.655000	0.94253	ACG	SPHKAP	-	NULL		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228882421	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.101	A	A	228882421	G	A	228882421	3	1	73	1	0	0	0	0	1	0	0	0	15078	1145	40	2	1977	2	SPHKAP	2	228882421	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	11602747	228882421	14316952	20	10594										
MLPH	79083	genome.wustl.edu	37	chr2	238427252	238427252	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gatgaggatggagaacctggCtcagaggcccaggcccaggc	16	11	1	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:238427252C>A	ENST00000264605.3	+	5	810	c.516C>A	c.(514-516)ggC>ggA	p.G172G	MLPH_ENST00000410032.1_Silent_p.G172G|MLPH_ENST00000409373.1_Silent_p.G172G|MLPH_ENST00000338530.4_Silent_p.G172G|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.G172G	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	172			G -> D (in dbSNP:rs3751107).		melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GAGAACCTGGCTCAGAGGCCC	0.582																																																	0													66	72	70					2																	238427252		2203	4300	6503	SO:0001819	synonymous_variant	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.516C>A	2.37:g.238427252C>A			B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.G172	ENST00000264605.3	37	c.516	CCDS2518.1	2																																																																																			MLPH	-	NULL		0.582	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	C	NM_024101		238427252	1	no_errors	ENST00000264605	ensembl	human	known	70_37	silent	SNP	0.001	A	A	238427252	C	A	238427252	2	1	73	1	0	0	0	0	0	0	0	1	9656	784	28	4		4	MLPH	2	238427252	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	9544831	238427252	4772121	21	10595										
MYEOV2	150678	genome.wustl.edu	37	chr2	241066089	241066089	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccctccagtgagtagaaactGatattgtgctgtcttcgctg	10	10	1	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:241066089G>C	ENST00000307266.3	-	5	649	c.650C>G	c.(649-651)tCa>tGa	p.S217*		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		AGTAGAAACTGATATTGTGCT	0.468																																																	0													222	176	192					2																	241066089		2203	4300	6503	SO:0001587	stop_gained	150678			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.650C>G	2.37:g.241066089G>C	ENSP00000304147:p.Ser217*		Q8N110	Nonsense_Mutation	SNP	NULL	p.S217*	ENST00000307266.3	37	c.650	CCDS2532.1	2	.	.	.	.	.	.	.	.	.	.	G	7.087	0.571461	0.13623	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.13	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6353	0.17534	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000304147:S217X	S	-	2	0	MYEOV2	240714762	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.064000	0.14437	0.925000	0.37094	0.543000	0.68304	TCA	MYEOV2	-	NULL		0.468	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	MYEOV2	HGNC	protein_coding	OTTHUMT00000257182.2	G	NM_138336		241066089	-1	no_errors	ENST00000307266	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	241066089	G	C	241066089	4	2	73	1	0	0	0	0	0	1	0	0	10049	1294	45	1	112	1	MYEOV2	2	241066089	Nonsense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	2638837	241066089	2133284	22	10596										
MYEOV2	150678	genome.wustl.edu	37	chr2	241066249	241066249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tttgttggtgccacacagcgGatgttctctgcatctggtaa	11	9	2	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:241066249G>A	ENST00000307266.3	-	5	489	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CCACACAGCGGATGTTCTCTG	0.532																																																	0													236	243	241					2																	241066249		2203	4300	6503	SO:0001583	missense	150678			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.490C>T	2.37:g.241066249G>A	ENSP00000304147:p.Pro164Ser		Q8N110	Missense_Mutation	SNP	NULL	p.P164S	ENST00000307266.3	37	c.490	CCDS2532.1	2	.	.	.	.	.	.	.	.	.	.	G	3.463	-0.109502	0.06924	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.67	-1.12	0.09808	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27971	-1.0058	7	0.87932	D	0	.	2.3544	0.04292	0.4942:0.3049:0.2009:0.0	.	164	Q8WXC6-1	.	S	164	.	ENSP00000304147:P164S	P	-	1	0	MYEOV2	240714922	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.649000	0.05384	-0.268000	0.09312	-0.483000	0.04790	CCG	MYEOV2	-	NULL		0.532	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	MYEOV2	HGNC	protein_coding	OTTHUMT00000257182.2	G	NM_138336		241066249	-1	no_errors	ENST00000307266	ensembl	human	known	70_37	missense	SNP	0.000	A	A	241066249	G	A	241066249	3	1	73	1	0	0	0	0	1	0	0	0	10049	1174	41	1	272	1	MYEOV2	2	241066249	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	160	241066249	2133124	23	10597										
UBE2E1	7324	genome.wustl.edu	37	chr3	23852950	23852950	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttcccatttctcccactccaGaattcagaaggagctggcgg	9	13	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:23852950G>A	ENST00000306627.3	+	3	371		c.e3-1		UBE2E1_ENST00000475680.1_Splice_Site|UBE2E1_ENST00000346855.3_Intron|UBE2E1_ENST00000424381.1_Splice_Site|UBE2E1_ENST00000467766.1_Splice_Site	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						TCCCACTCCAGAATTCAGAAG	0.458																																																	0													135	130	132					3																	23852950		2203	4300	6503	SO:0001630	splice_region_variant	7324			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"Ubiquitin-conjugating enzymes E2"	12477	protein-coding gene	gene with protein product		602916	"ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.153-1G>A	3.37:g.23852950G>A			B2RBX4|C9J8K2|K4DI90	Splice_Site	SNP	-	e2-1	ENST00000306627.3	37	c.153-1	CCDS2638.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.472154|3.472154	0.63737|0.63737	.|.	.|.	ENSG00000170142|ENSG00000170142	ENST00000306627;ENST00000442670;ENST00000424381|ENST00000452012	.|T	.|0.67523	.|-0.27	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80696	.|0.4672	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84036	.|0.0362	.|6	.|0.87932	.|D	.|0	.|.	17.8904|17.8904	0.88870|0.88870	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|K	-1|1	.|ENSP00000393088:R1K	.|ENSP00000393088:R1K	.|R	+|+	.|2	.|0	UBE2E1|UBE2E1	23827954|23827954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	9.128000|9.128000	0.94424|0.94424	2.215000|2.215000	0.71742|0.71742	0.462000|0.462000	0.41574|0.41574	.|AGA	UBE2E1	-	-		0.458	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2	G	NM_003341	Intron	23852950	1	no_errors	ENST00000306627	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	23852950	G	A	23852950	5	1	73	1	0	0	0	0	0	0	1	0	16883	956	33	1	158	1	UBE2E1	3	23852950	Splice_Site	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		23852950	174169480	24	10598										
ARPP21	10777	genome.wustl.edu	37	chr3	35763138	35763138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gagaacatctgggagtcgacAgagcagctcagaaaatgaac	12	8	2	4			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:35763138A>G	ENST00000187397.4	+	14	1493	c.1037A>G	c.(1036-1038)cAg>cGg	p.Q346R	ARPP21_ENST00000337271.5_Missense_Mutation_p.Q292R|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q292R|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q312R|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q312R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	346	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGAGTCGACAGAGCAGCTCA	0.537																																																	0													62	57	59					3																	35763138		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1037A>G	3.37:g.35763138A>G	ENSP00000187397:p.Gln346Arg		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q312R	ENST00000187397.4	37	c.935	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200440	0.79015	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.28255	1.64;1.62;1.62;1.66;1.64	5.75	5.75	0.90469	.	0.128005	0.56097	D	0.000035	T	0.25827	0.0629	L	0.54323	1.7	0.53688	D	0.999974	B;P;B	0.45348	0.282;0.856;0.282	B;B;B	0.37888	0.093;0.26;0.093	T	0.05649	-1.0872	10	0.17369	T	0.5	-10.4905	11.188	0.48669	0.863:0.0:0.0:0.137	.	312;346;292	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	R	312;292;292;346;312	ENSP00000414351:Q312R;ENSP00000337792:Q292R;ENSP00000405276:Q292R;ENSP00000187397:Q346R;ENSP00000412326:Q312R	ENSP00000187397:Q346R	Q	+	2	0	ARPP21	35738142	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.280000	0.78610	2.201000	0.70794	0.533000	0.62120	CAG	ARPP21	-	NULL		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	A	NM_198399		35763138	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35763138	A	G	35763138	3	3	73	1	0	0	0	0	1	0	0	0	979	188	7	5	1096	5	ARPP21	3	35763138	Missense_Mutation	SNP	A	TCGA-EA-A3HT-01A-61D-A21Q-09	11910188	35763138	162259292	25	10599										
GRAMD1C	54762	genome.wustl.edu	37	chr3	113659095	113659095	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tttttctttcagtttagcctCtgatatggtgtcaagagcag	9	7	4	2	rs138486935		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:113659095C>G	ENST00000358160.4	+	17	2303	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.S399C|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.S437C|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.S333C|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	604						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGTTTAGCCTCTGATATGGTG	0.388																																																	0													110	115	113					3																	113659095		2203	4300	6503	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1811C>G	3.37:g.113659095C>G	ENSP00000350881:p.Ser604Cys		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.S604C	ENST00000358160.4	37	c.1811	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050930	0.55218	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	T;T;T;T	0.47869	1.44;0.83;0.86;0.84	5.87	5.87	0.94306	.	0.376565	0.27379	N	0.019638	T	0.62466	0.2430	M	0.63428	1.95	0.30501	N	0.770391	D;D	0.76494	0.999;0.998	P;P	0.62560	0.904;0.818	T	0.65961	-0.6041	10	0.72032	D	0.01	.	13.0012	0.58676	0.0:0.9226:0.0:0.0774	.	437;604	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	C	604;333;437;399	ENSP00000350881:S604C;ENSP00000399844:S333C;ENSP00000419132:S437C;ENSP00000408135:S399C	ENSP00000350881:S604C	S	+	2	0	GRAMD1C	115141785	1.000000	0.71417	0.652000	0.29579	0.215000	0.24574	4.365000	0.59486	2.785000	0.95823	0.650000	0.86243	TCT	GRAMD1C	-	NULL		0.388	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	C	NM_017577		113659095	1	no_errors	ENST00000358160	ensembl	human	known	70_37	missense	SNP	0.966	G	G	113659095	C	G	113659095	3	3	73	1	0	0	0	0	1	0	0	0	6769	913	32	1	1877	1	GRAMD1C	3	113659095	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	77895957	113659095	84363335	26	10600										
ASTE1	28990	genome.wustl.edu	37	chr3	130735010	130735010	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agttaggtctggctctgggaGaggagtggacagcagctggt	18	6	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:130735010G>C	ENST00000264992.3	-	5	2128	c.1687C>G	c.(1687-1689)Ctc>Gtc	p.L563V	ATP2C1_ENST00000393221.4_Missense_Mutation_p.E947D|ATP2C1_ENST00000359644.3_Missense_Mutation_p.E923D|ASTE1_ENST00000514044.1_Missense_Mutation_p.L563V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.E882Q|ATP2C1_ENST00000533801.2_Missense_Mutation_p.E918D|ATP2C1_ENST00000507488.2_Missense_Mutation_p.E897D|ATP2C1_ENST00000513801.1_Missense_Mutation_p.E897D|ATP2C1_ENST00000422190.2_Missense_Mutation_p.E913D|ATP2C1_ENST00000504381.1_Missense_Mutation_p.E868D	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	563					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GGCTCTGGGAGAGGAGTGGAC	0.463																																																	0													108	101	103					3																	130735010		2203	4300	6503	SO:0001583	missense	27032			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1687C>G	3.37:g.130735010G>C	ENSP00000264992:p.Leu563Val		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E947D	ENST00000264992.3	37	c.2841	CCDS3068.1	3	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	G|G|G|G	14.59|14.59|14.59|14.59	2.581736|2.581736|2.581736|2.581736	0.46006|0.46006|0.46006|0.46006	.|.|.|.	.|.|.|.	ENSG00000017260|ENSG00000017260|ENSG00000034533|ENSG00000017260	ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000513801;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000328560|ENST00000514044;ENST00000264992|ENST00000504612	D;D;D;D;D;D;D|D|.|.	0.92495|0.92699|.|.	-3.04;-2.99;-2.99;-3.05;-2.99;-2.99;-2.99|-3.09|.|.	5.71|5.71|5.71|5.71	1.39|1.39|1.39|1.39	0.22231|0.22231|0.22231|0.22231	.|.|.|.	.|.|0.254539|.	.|.|0.38605|.	.|.|N|.	.|.|0.001628|.	T|T|T|T	0.38639|0.38639|0.38639|0.38639	0.1048|0.1048|0.1048|0.1048	.|.|.|.	.|.|.|.	.|.|.|.	0.18873|0.18873|0.18873|0.18873	N|N|N|N	0.999988|0.999988|0.999988|0.999988	B;B;B;B|B|D;D|.	0.13145|0.14012|0.89917|.	0.007;0.004;0.007;0.004|0.009|1.0;1.0|.	B;B;B;B|B|D;D|.	0.16289|0.18561|0.68943|.	0.015;0.004;0.015;0.007|0.022|0.961;0.923|.	T|T|T|T	0.28650|0.28650|0.28650|0.28650	-1.0037|-1.0037|-1.0037|-1.0037	8|8|8|4	0.59425|0.15499|0.66056|.	D|T|D|.	0.04|0.54|0.02|.	-6.4662|-6.4662|-6.4662|-6.4662	11.6093|11.6093|11.6093|11.6093	0.51049|0.51049|0.51049|0.51049	0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0	.|.|.|.	947;918;913;947|882|563;563|.	G3XAH8;B4DSW3;P98194-5;B7Z3X9|P98194-2|D6RG30;Q2TB18|.	.;.;.;.|.|.;ASTE1_HUMAN|.	D|Q|V|T	868;897;947;918;897;923;913;932|882|563|877	ENSP00000425320:E868D;ENSP00000421326:E897D;ENSP00000376914:E947D;ENSP00000432956:E918D;ENSP00000422872:E897D;ENSP00000352665:E923D;ENSP00000402677:E913D|ENSP00000329664:E882Q|.|.	ENSP00000306816:E932D|ENSP00000329664:E882Q|ENSP00000264992:L563V|.	E|E|L|R	+|+|-|+	3|1|1|2	2|0|0|0	ATP2C1|ATP2C1|ASTE1|ATP2C1	132217700|132217700|132217700|132217700	0.971000|0.971000|0.971000|0.971000	0.33674|0.33674|0.33674|0.33674	0.976000|0.976000|0.976000|0.976000	0.42696|0.42696|0.42696|0.42696	0.499000|0.499000|0.499000|0.499000	0.33736|0.33736|0.33736|0.33736	1.403000|1.403000|1.403000|1.403000	0.34612|0.34612|0.34612|0.34612	0.349000|0.349000|0.349000|0.349000	0.23975|0.23975|0.23975|0.23975	0.655000|0.655000|0.655000|0.655000	0.94253|0.94253|0.94253|0.94253	GAG|GAG|CTC|AGA	ATP2C1	-	NULL		0.463	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356659.1	G	NM_014065		130735010	1	no_errors	ENST00000393221	ensembl	human	known	70_37	missense	SNP	0.216	C	C	130735010	G	C	130735010	3	2	73	1	0	0	0	0	1	0	0	0	1063	943	33	1	360	1	ASTE1	3	130735010	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	17075915	130735010	67287420	27	10601										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	73	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	48201081	178936091	19086339	28	10602										
MAGEF1	64110	genome.wustl.edu	37	chr3	184429564	184429564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gccgccatccttctccccctCggcctgcgggaccgggagcc	12	20	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:184429564C>T	ENST00000317897.3	-	1	272	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	16						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TTCTCCCCCTCGGCCTGCGGG	0.721																																																	0													8	10	9					3																	184429564		2067	4044	6111	SO:0001583	missense	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.46G>A	3.37:g.184429564C>T	ENSP00000315064:p.Glu16Lys		Q9H215	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E16K	ENST00000317897.3	37	c.46	CCDS3269.1	3	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620355	0.66787	.	.	ENSG00000177383	ENST00000317897	T	0.05996	3.36	3.6	1.64	0.23874	.	4.302770	0.00481	N	0.000139	T	0.05227	0.0139	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.39035	-0.9633	10	0.08599	T	0.76	.	4.5364	0.12037	0.0:0.6411:0.2206:0.1382	.	16	Q9HAY2	MAGF1_HUMAN	K	16	ENSP00000315064:E16K	ENSP00000315064:E16K	E	-	1	0	MAGEF1	185912258	0.001000	0.12720	0.029000	0.17559	0.680000	0.39746	0.700000	0.25601	0.435000	0.26365	-0.345000	0.07892	GAG	MAGEF1	-	NULL		0.721	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEF1	HGNC	protein_coding	OTTHUMT00000345417.1	C	NM_022149		184429564	-1	no_errors	ENST00000317897	ensembl	human	known	70_37	missense	SNP	0.032	T	T	184429564	C	T	184429564	3	4	73	1	0	0	0	0	1	0	0	0	9210	893	31	1	881	1	MAGEF1	3	184429564	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	5493473	184429564	13592866	29	10603										
LETM1	3954	genome.wustl.edu	37	chr4	1824729	1824729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcttaccgccacctccgagcGcttctgcagctccttctcac	7	19	2	0	rs141023040		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:1824729G>A	ENST00000302787.2	-	9	1758	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	488					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCTCCGAGCGCTTCTGCAGC	0.682																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	52	49	50		1462	1.3	0	4	dbSNP_134	50	0,8600		0,0,4300	no	missense	LETM1	NM_012318.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	488/740	1824729	1,13005	2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1462C>T	4.37:g.1824729G>A	ENSP00000305653:p.Arg488Cys		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.R488C	ENST00000302787.2	37	c.1462	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891622	0.33442	2.27E-4	0.0	ENSG00000168924	ENST00000302787	.	.	.	4.48	1.33	0.21861	.	1.557430	0.04116	N	0.315529	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.32289	0.143	T	0.29912	-0.9996	9	0.56958	D	0.05	0.0361	7.4101	0.27014	0.0:0.3745:0.3886:0.2368	.	488	O95202	LETM1_HUMAN	C	488	.	ENSP00000305653:R488C	R	-	1	0	LETM1	1794527	0.021000	0.18746	0.001000	0.08648	0.130000	0.20726	0.795000	0.26972	0.423000	0.26033	0.491000	0.48974	CGC	LETM1	-	NULL		0.682	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	G			1824729	-1	no_errors	ENST00000302787	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1824729	G	A	1824729	3	1	73	1	0	0	0	0	1	0	0	0	8754	1087	38	2	781	2	LETM1	4	1824729	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		1824729	189329547	30	10604										
UGT2B15	7366	genome.wustl.edu	37	chr4	69519864	69519864	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tttcatgtgagcaatgttatCatgttgatccgcaaacaagg	9	7	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:69519864C>T	ENST00000338206.5	-	5	1213	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	402					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GCAATGTTATCATGTTGATCC	0.453																																																	0													158	154	155					4																	69519864		2203	4293	6496	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1204G>A	4.37:g.69519864C>T	ENSP00000341045:p.Asp402Asn		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D402N	ENST00000338206.5	37	c.1204	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356051	0.41700	.	.	ENSG00000196620	ENST00000338206	T	0.63913	-0.07	2.57	2.57	0.30868	.	0.068286	0.56097	U	0.000036	T	0.79616	0.4476	M	0.90483	3.12	0.33756	D	0.621268	D	0.65815	0.995	D	0.69479	0.964	D	0.86547	0.1832	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	402	P54855	UDB15_HUMAN	N	402	ENSP00000341045:D402N	ENSP00000341045:D402N	D	-	1	0	UGT2B15	69202459	0.999000	0.42202	0.069000	0.20011	0.013000	0.08279	4.190000	0.58365	1.421000	0.47157	0.455000	0.32223	GAT	UGT2B15	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.453	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69519864	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69519864	C	T	69519864	3	4	73	1	0	0	0	0	1	0	0	0	16989	826	29	1	2013	1	UGT2B15	4	69519864	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	67695135	69519864	121634412	31	10605										
RAP1GDS1	5910	genome.wustl.edu	37	chr4	99264323	99264323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgaaaaaatccaagcaagtgGaatacttcagctgtttgcaa	8	7	1	1	rs377518587		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:99264323G>A	ENST00000408927.3	+	3	259	c.146G>A	c.(145-147)gGa>gAa	p.G49E	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.G50E|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.G50E|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.G49E|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.G50E|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.G50E	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	49					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAAGCAAGTGGAATACTTCAG	0.378			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0								G	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY	0,3700		0,0,1850	85	84	85		149,146,149,146,149,149	5.8	1	4		85	1,8169		0,1,4084	no	missense,missense,missense,missense,missense,missense	RAP1GDS1	NM_001100426.1,NM_001100427.1,NM_001100428.1,NM_001100429.1,NM_001100430.1,NM_021159.4	98,98,98,98,98,98	0,1,5934	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	50/609,49/608,50/560,49/559,50/517,50/608	99264323	1,11869	1850	4085	5935	SO:0001583	missense	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.146G>A	4.37:g.99264323G>A	ENSP00000386153:p.Gly49Glu		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G50E	ENST00000408927.3	37	c.149	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790356	0.90367	0.0	1.22E-4	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T	0.72615	0.42;1.47;-0.67;1.21;-0.65;0.22;0.42;-0.62	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.999;1.0;0.987;1.0	D	0.83505	0.0077	10	0.72032	D	0.01	-16.43	20.0044	0.97430	0.0:0.0:1.0:0.0	.	50;49;50;49;50;50;49	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	E	50;50;49;49;50;50;49;50	ENSP00000369503:G50E;ENSP00000264572:G50E;ENSP00000386153:G49E;ENSP00000424324:G49E;ENSP00000407157:G50E;ENSP00000421599:G50E;ENSP00000386223:G49E;ENSP00000340454:G50E	ENSP00000264572:G50E	G	+	2	0	RAP1GDS1	99483346	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.263000	0.95617	2.714000	0.92807	0.650000	0.86243	GGA	RAP1GDS1	-	superfamily_ARM-type_fold		0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	G	NM_001100426		99264323	1	no_errors	ENST00000339360	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99264323	G	A	99264323	3	1	73	1	0	0	0	0	1	0	0	0	13069	1174	41	1	159	1	RAP1GDS1	4	99264323	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	29744459	99264323	91889953	32	10606										
FAM198B	51313	genome.wustl.edu	37	chr4	159092077	159092077	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccttgccgcttcctgcggctGaagggatggtccgaccaaag	13	13	0	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:159092077G>A	ENST00000296530.8	-	2	1072	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	FAM198B_ENST00000393807.5_Nonsense_Mutation_p.Q151*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.Q151*|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Nonsense_Mutation_p.Q151*|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	151						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TCCTGCGGCTGAAGGGATGGT	0.617																																																	0													61	61	61					4																	159092077		2203	4299	6502	SO:0001587	stop_gained	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.451C>T	4.37:g.159092077G>A	ENSP00000296530:p.Gln151*		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Nonsense_Mutation	SNP	NULL	p.Q151*	ENST00000296530.8	37	c.451	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.094467	0.98651	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	.	.	.	4.74	3.87	0.44632	.	1.155160	0.06147	N	0.673538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-31.272	11.9763	0.53094	0.0:0.0:0.6744:0.3256	.	.	.	.	X	151	.	ENSP00000296530:Q151X	Q	-	1	0	FAM198B	159311527	0.003000	0.15002	0.111000	0.21465	0.950000	0.60333	1.442000	0.35046	1.168000	0.42723	0.655000	0.94253	CAG	FAM198B	-	NULL		0.617	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	G	NM_001031700, NM_016613		159092077	-1	no_errors	ENST00000393807	ensembl	human	known	70_37	nonsense	SNP	0.012	A	A	159092077	G	A	159092077	4	1	73	1	0	0	0	0	0	1	0	0	5544	1299	45	1	1229	1	FAM198B	4	159092077	Nonsense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	59827754	159092077	32062199	33	10607										
NEIL3	55247	genome.wustl.edu	37	chr4	178274720	178274720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gaatgatatacagcacccctCcaagaagacaacaaacgata	6	11	0	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:178274720C>T	ENST00000264596.3	+	8	1416	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	433					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGCACCCCTCCAAGAAGACA	0.353								Base excision repair (BER), DNA glycosylases																																									0													83	81	81					4																	178274720		2203	4300	6503	SO:0001583	missense	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1298C>T	4.37:g.178274720C>T	ENSP00000264596:p.Ser433Phe		Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.S433F	ENST00000264596.3	37	c.1298	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394690	0.42512	.	.	ENSG00000109674	ENST00000264596	T	0.04654	3.58	5.09	4.25	0.50352	.	0.344395	0.32328	N	0.006254	T	0.12092	0.0294	M	0.66939	2.045	0.35325	D	0.785095	D	0.60160	0.987	P	0.53809	0.735	T	0.10405	-1.0631	10	0.72032	D	0.01	-7.1803	9.6428	0.39850	0.0:0.832:0.0:0.168	.	433	Q8TAT5	NEIL3_HUMAN	F	433	ENSP00000264596:S433F	ENSP00000264596:S433F	S	+	2	0	NEIL3	178511714	0.819000	0.29175	0.150000	0.22450	0.329000	0.28539	1.239000	0.32719	1.387000	0.46486	0.557000	0.71058	TCC	NEIL3	-	NULL		0.353	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	C	NM_018248		178274720	1	no_errors	ENST00000264596	ensembl	human	known	70_37	missense	SNP	0.899	T	T	178274720	C	T	178274720	3	4	73	1	0	0	0	0	1	0	0	0	10344	855	30	1	1328	1	NEIL3	4	178274720	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	19182643	178274720	12879556	34	10608										
ADAMTS6	11174	genome.wustl.edu	37	chr5	64466540	64466540	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	acagtcactagatgcctgtcCggtgtaggagagacactgca	12	10	1	2	rs537343964		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:64466540C>T	ENST00000314351.5	-	0	807							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATGCCTGTCCGGTGTAGGAG	0.443													C|||	1	0.000199681	0	0	5008	,	,		18304	0.001		0	False		,,,				2504	0																0													95	84	87					5																	64466540		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-515G>A	5.37:g.64466540C>T			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G1050R	ENST00000314351.5	37	c.3148		5	.	.	.	.	.	.	.	.	.	.	C	30	5.055030	0.93793	.	.	ENSG00000049192	ENST00000381055	T	0.51071	0.72	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70208	-0.4935	10	0.49607	T	0.09	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	1050	Q9UKP5	ATS6_HUMAN	R	1050	ENSP00000370443:G1050R	ENSP00000370443:G1050R	G	-	1	0	ADAMTS6	64502296	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.487000	0.81328	2.693000	0.91896	0.650000	0.86243	GGA	ADAMTS6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.443	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	C	NM_197941		64466540	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64466540	C	T	64466540	1	4	73	0	1	0	0	0	0	0	0	0	270	661	23	2		2	ADAMTS6	5	64466540	5'UTR	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		64466540	116448720	35	10609										
MAST4	375449	genome.wustl.edu	37	chr5	66459794	66459794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	caaagcgtctatgcaggaggCgccaccgctgggcagcctgc	14	14	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:66459794C>T	ENST00000403625.2	+	29	5082	c.4787C>T	c.(4786-4788)gCg>gTg	p.A1596V	MAST4_ENST00000403666.1_Missense_Mutation_p.A1407V|MAST4_ENST00000261569.7_Missense_Mutation_p.A1402V|MAST4_ENST00000404260.3_Missense_Mutation_p.A1599V|MAST4_ENST00000405643.1_Missense_Mutation_p.A1417V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1599						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATGCAGGAGGCGCCACCGCTG	0.567																																																	0													20	22	21					5																	66459794		1987	4149	6136	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4787C>T	5.37:g.66459794C>T	ENSP00000385727:p.Ala1596Val		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A1599V	ENST00000403625.2	37	c.4796	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110075	0.37242	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.65178	-0.11;-0.11;-0.14;-0.13;-0.11	4.95	2.09	0.27110	.	1.277870	0.05259	N	0.515431	T	0.52075	0.1712	L	0.40543	1.245	0.09310	N	1	B;B	0.24426	0.103;0.052	B;B	0.18263	0.009;0.021	T	0.31668	-0.9935	10	0.28530	T	0.3	0.2689	7.4204	0.27069	0.0:0.4573:0.3934:0.1493	.	1599;1407	O15021;O15021-3	MAST4_HUMAN;.	V	1599;1596;1407;1417;1417;1402	ENSP00000385048:A1599V;ENSP00000385727:A1596V;ENSP00000384313:A1407V;ENSP00000384099:A1417V;ENSP00000261569:A1402V	ENSP00000261569:A1402V	A	+	2	0	MAST4	66495550	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	1.182000	0.32029	0.231000	0.21079	-0.305000	0.09177	GCG	MAST4	-	NULL		0.567	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66459794	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.001	T	T	66459794	C	T	66459794	3	4	73	1	0	0	0	0	1	0	0	0	9350	768	27	2	5031	2	MAST4	5	66459794	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	1993254	66459794	114455466	36	10610										
MAN2A1	4124	genome.wustl.edu	37	chr5	109117292	109117292	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tggacagaatcatggaatctCatttaaggtacttttacctt	7	7	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:109117292C>T	ENST00000261483.4	+	9	2622	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	524					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CATGGAATCTCATTTAAGGTA	0.313																																																	0													79	79	79					5																	109117292		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1570C>T	5.37:g.109117292C>T	ENSP00000261483:p.His524Tyr		Q16767	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.H524Y	ENST00000261483.4	37	c.1570	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829046	0.16749	.	.	ENSG00000112893	ENST00000261483	T	0.73469	-0.75	6.06	4.08	0.47627	Glycoside hydrolase, family 38, central domain (2);	0.750787	0.13511	N	0.382521	T	0.51244	0.1663	N	0.10685	0.025	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.30416	-0.9979	10	0.12766	T	0.61	-8.5235	9.5459	0.39279	0.0:0.7332:0.0:0.2668	.	524	Q16706	MA2A1_HUMAN	Y	524	ENSP00000261483:H524Y	ENSP00000261483:H524Y	H	+	1	0	MAN2A1	109145191	0.796000	0.28864	0.024000	0.17045	0.687000	0.40016	1.629000	0.37071	1.584000	0.49913	0.650000	0.86243	CAT	MAN2A1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom		0.313	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	C			109117292	1	no_errors	ENST00000261483	ensembl	human	known	70_37	missense	SNP	0.067	T	T	109117292	C	T	109117292	3	4	73	1	0	0	0	0	1	0	0	0	9237	826	29	1	1604	1	MAN2A1	5	109117292	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	42657498	109117292	71797968	37	10611										
SLC22A4	6583	genome.wustl.edu	37	chr5	131676382	131676382	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gaaaccttagagcagatgcaGaaagtgaaatggtaagtagg	13	4	0	4	rs146182196		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:131676382G>A	ENST00000200652.3	+	9	1743	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	523					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGCAGATGCAGAAAGTGAAAT	0.403																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	147	142	144		1569	3.3	1	5	dbSNP_134	144	0,8600		0,0,4300	no	coding-synonymous	SLC22A4	NM_003059.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		523/552	131676382	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1569G>A	5.37:g.131676382G>A			O14546	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.Q523	ENST00000200652.3	37	c.1569	CCDS4153.1	5																																																																																			SLC22A4	-	NULL		0.403	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	G	NM_003059		131676382	1	no_errors	ENST00000200652	ensembl	human	known	70_37	silent	SNP	0.999	A	A	131676382	G	A	131676382	2	1	73	1	0	0	0	0	0	0	0	1	14486	933	33	1		1	SLC22A4	5	131676382	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	22559090	131676382	49238878	38	10612										
EGR1	1958	genome.wustl.edu	37	chr5	137801471	137801471	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atggccgcggccaaggccgaGatgcagctgatgtccccgct	14	14	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:137801471G>A	ENST00000239938.4	+	1	293	c.21G>A	c.(19-21)gaG>gaA	p.E7E		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	7					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAAGGCCGAGATGCAGCTGA	0.657																																																	0													56	51	53					5																	137801471		2203	4300	6503	SO:0001819	synonymous_variant	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.21G>A	5.37:g.137801471G>A				Silent	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E7	ENST00000239938.4	37	c.21	CCDS4206.1	5																																																																																			EGR1	-	NULL		0.657	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	G	NM_001964		137801471	1	no_errors	ENST00000239938	ensembl	human	known	70_37	silent	SNP	1.000	A	A	137801471	G	A	137801471	2	1	73	1	0	0	0	0	0	0	0	1	4981	933	33	1		1	EGR1	5	137801471	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	6125089	137801471	43113789	39	10613										
PCDHA2	56146	genome.wustl.edu	37	chr5	140176967	140176967	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttactttttcttgccaattcTaaaattgttctttttaaaaa	2	6	3	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:140176967T>C	ENST00000526136.1	+	1	2388				PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S806S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAATTCTAAAATTGTTC	0.328																																																	0													22	25	24					5																	140176967		2198	4299	6497	SO:0001627	intron_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2388+30T>C	5.37:g.140176967T>C			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S806	ENST00000526136.1	37	c.2418	CCDS54914.1	5																																																																																			PCDHA2	-	NULL		0.328	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	T	NM_018905		140176967	1	no_errors	ENST00000378132	ensembl	human	known	70_37	silent	SNP	0.029	C	C	140176967	T	C	140176967	1	2	73	0	1	0	0	0	0	0	0	0	11548	1509	53	5		5	PCDHA2	5	140176967	Intron	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	2375496	140176967	40738293	40	10614										
PCDHA3	56145	genome.wustl.edu	37	chr5	140182480	140182480	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gacaacgcgccggcactgctGatgcctcgggtgggtggcat	16	12	0	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:140182480G>A	ENST00000522353.2	+	1	1698	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L566L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	566					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACTGCTGATGCCTCGGG	0.692																																																	0													88	88	88					5																	140182480		2203	4298	6501	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1698G>A	5.37:g.140182480G>A			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L566	ENST00000522353.2	37	c.1698	CCDS54915.1	5																																																																																			PCDHA3	-	superfamily_Cadherin-like		0.692	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	G	NM_018906		140182480	1	no_errors	ENST00000522353	ensembl	human	known	70_37	silent	SNP	0.993	A	A	140182480	G	A	140182480	2	1	73	1	0	0	0	0	0	0	0	1	11549	1277	45	1		1	PCDHA3	5	140182480	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	5513	140182480	40732780	41	10615										
DSP	1832	genome.wustl.edu	37	chr6	7583774	7583774	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tatgcagcagaaaaagctatCactggttttgatgatccatt	8	7	1	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:7583774C>T	ENST00000379802.3	+	24	6620	c.6279C>T	c.(6277-6279)atC>atT	p.I2093I	DSP_ENST00000418664.2_Silent_p.I1494I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2093	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAAGCTATCACTGGTTTTG	0.453																																																	0													119	124	122					6																	7583774		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6279C>T	6.37:g.7583774C>T			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I2093	ENST00000379802.3	37	c.6279	CCDS4501.1	6																																																																																			DSP	-	smart_Plectin_repeat		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7583774	1	no_errors	ENST00000379802	ensembl	human	known	70_37	silent	SNP	0.975	T	T	7583774	C	T	7583774	2	4	73	1	0	0	0	0	0	0	0	1	4791	816	29	1		1	DSP	6	7583774	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		7583774	163531293	42	10616										
EHMT2	10919	genome.wustl.edu	37	chr6	31855591	31855591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atgaccagggccttttccagGgcctcccggcctggccccag	12	17	0	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:31855591G>A	ENST00000375537.4	-	14	1899	c.1893C>T	c.(1891-1893)gcC>gcT	p.A631A	EHMT2_ENST00000375530.4_Silent_p.A597A|EHMT2_ENST00000395728.3_Silent_p.A688A|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.A654A	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	631					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCTTTTCCAGGGCCTCCCGGC	0.662																																																	0													93	114	106					6																	31855591		1510	2706	4216	SO:0001819	synonymous_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1893C>T	6.37:g.31855591G>A			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A688	ENST00000375537.4	37	c.2064	CCDS4725.1	6																																																																																			EHMT2	-	NULL		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	G	NM_006709		31855591	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	silent	SNP	0.998	A	A	31855591	G	A	31855591	2	1	73	1	0	0	0	0	0	0	0	1	4994	1219	43	4		4	EHMT2	6	31855591	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	24271817	31855591	139259476	43	10617										
EHMT2	10919	genome.wustl.edu	37	chr6	31855658	31855658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccccattgggcagggtcaggGagggccctgagctgtcaatg	16	11	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:31855658G>A	ENST00000375537.4	-	14	1832	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	EHMT2_ENST00000375530.4_Missense_Mutation_p.S575F|EHMT2_ENST00000395728.3_Missense_Mutation_p.S666F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.S632F	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	609					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGTCAGGGAGGGCCCTGA	0.682																																																	0													38	48	44					6																	31855658		1503	2701	4204	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1826C>T	6.37:g.31855658G>A	ENSP00000364687:p.Ser609Phe		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.S666F	ENST00000375537.4	37	c.1997	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726979	0.69074	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.71817	-0.6;-0.5;-0.45;-0.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.38175	1.15	0.53005	D	0.999964	B;B;P;B	0.50819	0.031;0.045;0.939;0.01	B;B;P;B	0.45753	0.032;0.099;0.492;0.006	T	0.66044	-0.6021	10	0.87932	D	0	.	14.5681	0.68194	0.0:0.1472:0.8528:0.0	.	632;575;609;423	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	F	666;632;575;609;423	ENSP00000379078:S666F;ENSP00000364678:S632F;ENSP00000364680:S575F;ENSP00000364687:S609F	ENSP00000364678:S632F	S	-	2	0	EHMT2	31963637	0.993000	0.37304	0.855000	0.33649	0.832000	0.47134	2.945000	0.49043	2.615000	0.88500	0.555000	0.69702	TCC	EHMT2	-	NULL		0.682	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	G	NM_006709		31855658	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	missense	SNP	0.978	A	A	31855658	G	A	31855658	3	1	73	1	0	0	0	0	1	0	0	0	4994	1174	41	1	1866	1	EHMT2	6	31855658	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	67	31855658	139259409	44	10618										
RXRB	6257	genome.wustl.edu	37	chr6	33162460	33162460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	accacgtctgggtctgagctCaggccagttgatggggagcc	15	11	3	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:33162460C>T	ENST00000374680.3	-	10	1812	c.1601G>A	c.(1600-1602)tGa>tAa	p.*534*	COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000395194.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000395197.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.*538*|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|RXRB_ENST00000544186.1_Silent_p.*348*	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	0					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTCTGAGCTCAGGCCAGTTG	0.562																																																	0													67	62	64					6																	33162460		1510	2709	4219	SO:0001819	synonymous_variant	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1601G>A	6.37:g.33162460C>T			P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.*534	ENST00000374680.3	37	c.1601	CCDS4768.1	6																																																																																			RXRB	-	NULL		0.562	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	C	NM_021976		33162460	-1	no_errors	ENST00000374680	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33162460	C	T	33162460	2	4	73	1	0	0	0	0	0	0	0	1	13794	837	29	1		1	RXRB	6	33162460	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	1306802	33162460	137952607	45	10619										
RXRB	6257	genome.wustl.edu	37	chr6	33164323	33164323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	caggcatctcctcgggggctCccccagccccctccccatcc	8	23	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:33164323C>T	ENST00000374680.3	-	5	1092	c.881G>A	c.(880-882)gGa>gAa	p.G294E	RXRB_ENST00000413614.2_Missense_Mutation_p.G198E|RXRB_ENST00000374685.4_Missense_Mutation_p.G294E|RXRB_ENST00000544186.1_Missense_Mutation_p.G104E	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	294	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTCGGGGGCTCCCCCAGCCCC	0.632																																																	0													57	73	67					6																	33164323		1510	2706	4216	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.881G>A	6.37:g.33164323C>T	ENSP00000363812:p.Gly294Glu		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G294E	ENST00000374680.3	37	c.881	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072071	0.55646	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	T;T;T;D	0.92099	-0.42;-0.42;-0.42;-2.97	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (1);	0.330809	0.31323	N	0.007850	D	0.91600	0.7346	L	0.56199	1.76	0.39989	D	0.975013	D;D;P;B;P;P;D;P	0.62365	0.991;0.988;0.645;0.034;0.685;0.872;0.965;0.872	P;P;B;B;B;P;P;P	0.58013	0.831;0.643;0.265;0.01;0.191;0.501;0.468;0.501	D	0.91663	0.5344	10	0.52906	T	0.07	.	11.4564	0.50185	0.0:0.8185:0.1815:0.0	.	198;294;177;104;294;294;334;294	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	E	294;294;104;198	ENSP00000363817:G294E;ENSP00000363812:G294E;ENSP00000439222:G104E;ENSP00000415561:G198E	ENSP00000363812:G294E	G	-	2	0	RXRB	33272301	0.011000	0.17503	1.000000	0.80357	0.996000	0.88848	0.238000	0.18004	2.577000	0.86979	0.549000	0.68633	GGA	RXRB	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.632	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	C	NM_021976		33164323	-1	no_errors	ENST00000374680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33164323	C	T	33164323	3	4	73	1	0	0	0	0	1	0	0	0	13794	855	30	1	744	1	RXRB	6	33164323	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	1863	33164323	137950744	46	10620										
REPS1	85021	genome.wustl.edu	37	chr6	139229911	139229911	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttctgattttaatcttcttcGaacaggtttaggtggtggag	11	5	3	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:139229911G>A	ENST00000450536.2	-	18	2684	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	REPS1_ENST00000367663.4_Nonsense_Mutation_p.R677*|REPS1_ENST00000258062.5_Nonsense_Mutation_p.R703*|REPS1_ENST00000415951.2_Nonsense_Mutation_p.R645*|REPS1_ENST00000409812.2_Nonsense_Mutation_p.R613*			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	704	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R651*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATCTTCTTCGAACAGGTTTA	0.378																																																	1	Substitution - Nonsense(1)	large_intestine(1)											164	148	154					6																	139229911		2203	4300	6503	SO:0001587	stop_gained	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2110C>T	6.37:g.139229911G>A	ENSP00000392065:p.Arg704*		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Nonsense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R704*	ENST00000450536.2	37	c.2110		6	.	.	.	.	.	.	.	.	.	.	G	37	6.449137	0.97577	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	.	.	.	5.35	2.57	0.30868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3038	8.537	0.33368	0.0679:0.0:0.5428:0.3893	.	.	.	.	X	704;677;662;613;703;645;652	.	ENSP00000258062:R703X	R	-	1	2	REPS1	139271604	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.200000	0.51051	0.373000	0.24621	-0.291000	0.09656	CGA	REPS1	-	NULL		0.378	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	G			139229911	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	nonsense	SNP	0.965	A	A	139229911	G	A	139229911	4	1	73	1	0	0	0	0	0	1	0	0	13258	1066	37	1	292	1	REPS1	6	139229911	Nonsense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	106065588	139229911	31885156	47	10621										
MACC1	346389	genome.wustl.edu	37	chr7	20198840	20198840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	taaaacaacagtaaaactggGatggatatatttgggtccat	9	5	0	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr7:20198840G>A	ENST00000400331.5	-	5	1452	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	MACC1_ENST00000589011.1_Missense_Mutation_p.P382S|MACC1_ENST00000332878.4_Missense_Mutation_p.P382S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	382					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTAAAACTGGGATGGATATAT	0.393																																																	0													52	49	50					7																	20198840		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1144C>T	7.37:g.20198840G>A	ENSP00000383185:p.Pro382Ser		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.P382S	ENST00000400331.5	37	c.1144	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148522	0.57151	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.12569	2.67;2.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23154	-1.0196	10	0.62326	D	0.03	-10.1509	19.8711	0.96851	0.0:0.0:1.0:0.0	.	382	Q6ZN28	MACC1_HUMAN	S	382	ENSP00000383185:P382S;ENSP00000328410:P382S	ENSP00000328410:P382S	P	-	1	0	MACC1	20165365	1.000000	0.71417	0.998000	0.56505	0.411000	0.31082	9.869000	0.99810	2.689000	0.91719	0.591000	0.81541	CCC	MACC1	-	NULL		0.393	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	G	NM_182762		20198840	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20198840	G	A	20198840	3	1	73	1	0	0	0	0	1	0	0	0	9166	1174	41	1	1426	1	MACC1	7	20198840	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		20198840	138939823	48	10622										
AUTS2	26053	genome.wustl.edu	37	chr7	70255358	70255358	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atgacccccttcatgggcatCagccccctcccgggcggaga	11	17	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr7:70255358C>T	ENST00000342771.4	+	19	3477	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	AUTS2_ENST00000406775.2_Silent_p.I1028I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1052										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGGGCATCAGCCCCCTCC	0.622																																																	0													28	32	31					7																	70255358		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3156C>T	7.37:g.70255358C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	prints_AUTS2	p.I1052	ENST00000342771.4	37	c.3156	CCDS5539.1	7																																																																																			AUTS2	-	NULL		0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70255358	1	no_errors	ENST00000342771	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70255358	C	T	70255358	2	4	73	1	0	0	0	0	0	0	0	1	1226	816	29	1		1	AUTS2	7	70255358	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	50056518	70255358	88883305	49	10623										
POT1	25913	genome.wustl.edu	37	chr7	124503594	124503594	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgaagttaaaatacttgcttGaagtgcgaggtatgataggg	13	3	0	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr7:124503594G>A	ENST00000357628.3	-	8	954	c.356C>T	c.(355-357)tCa>tTa	p.S119L	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	119					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATACTTGCTTGAAGTGCGAGG	0.423																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													138	130	133					7																	124503594		2203	4299	6502	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.356C>T	7.37:g.124503594G>A	ENSP00000350249:p.Ser119Leu		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd	p.S119L	ENST00000357628.3	37	c.356	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813118	0.70912	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T	0.54071	0.59	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.129541	0.53938	D	0.000055	T	0.50326	0.1609	L	0.51422	1.61	0.80722	D	1	B	0.16802	0.019	B	0.15052	0.012	T	0.42085	-0.9472	10	0.38643	T	0.18	.	18.2686	0.90060	0.0:0.0:1.0:0.0	.	119	Q9NUX5	POTE1_HUMAN	L	119;119;119;119;118	ENSP00000350249:S119L	ENSP00000265391:S118L	S	-	2	0	POT1	124290830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.611000	0.82962	2.543000	0.85770	0.650000	0.86243	TCA	POT1	-	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd		0.423	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	G			124503594	-1	no_errors	ENST00000357628	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124503594	G	A	124503594	3	1	73	1	0	0	0	0	1	0	0	0	12284	1294	45	1	1596	1	POT1	7	124503594	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	54248236	124503594	34635069	50	10624										
AMAC1L2	83650	genome.wustl.edu	37	chr8	11189300	11189300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tggccttcctatctggcttgGtggggctgctgggctgtgtg	17	9	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:11189300G>T	ENST00000382435.4	+	1	904	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	229						integral component of membrane (GO:0016021)											ATCTGGCTTGGTGGGGCTGCT	0.627																																																	0													33	49	43					8																	11189300		2199	4286	6485	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.685G>T	8.37:g.11189300G>T	ENSP00000371872:p.Val229Leu		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.V229L	ENST00000382435.4	37	c.685	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739361	0.30774	.	.	ENSG00000177710	ENST00000382435	T	0.50001	0.76	.	.	.	.	0.000000	0.40064	N	0.001189	T	0.49355	0.1552	L	0.51422	1.61	0.29937	N	0.821437	D	0.69078	0.997	D	0.79108	0.992	T	0.51252	-0.8729	9	0.06625	T	0.88	-5.5045	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	229	Q96KT7	S35G5_HUMAN	L	229	ENSP00000371872:V229L	ENSP00000371872:V229L	V	+	1	0	SLC35G5	11226710	0.523000	0.26274	0.270000	0.24601	0.272000	0.26649	0.080000	0.14802	0.088000	0.17205	0.089000	0.15464	GTG	SLC35G5	-	pfam_DMT		0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	G	NM_054028		11189300	1	no_errors	ENST00000382435	ensembl	human	known	70_37	missense	SNP	0.938	T	T	11189300	G	T	11189300	3	4	73	1	0	0	0	0	1	0	0	0	560	1261	44	4	687	4	AMAC1L2	8	11189300	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		11189300	135174722	51	10625										
FAM160B2	64760	genome.wustl.edu	37	chr8	21958969	21958969	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agtttcctgtgcctggtcccCgaggaagccaagacctctgc	11	14	1	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:21958969C>G	ENST00000289921.7	+	13	1681	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	545										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GCCTGGTCCCCGAGGAAGCCA	0.617																																																	0													45	51	49					8																	21958969		1999	4177	6176	SO:0001819	synonymous_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1635C>G	8.37:g.21958969C>G			B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	pfam_RetinoicA-induced_16-like	p.P545	ENST00000289921.7	37	c.1635	CCDS6021.2	8																																																																																			FAM160B2	-	NULL		0.617	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	C			21958969	1	no_errors	ENST00000289921	ensembl	human	known	70_37	silent	SNP	0.032	G	G	21958969	C	G	21958969	2	3	73	1	0	0	0	0	0	0	0	1	5486	639	23	2		2	FAM160B2	8	21958969	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	10769669	21958969	124405053	52	10626										
MYST3	7994	genome.wustl.edu	37	chr8	41789766	41789766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgagtgactgcttgggcacgCcagcagcgttcatgtagctg	14	10	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:41789766C>T	ENST00000396930.3	-	18	6515	c.5972G>A	c.(5971-5973)gGc>gAc	p.G1991D	KAT6A_ENST00000406337.1_Missense_Mutation_p.G1991D|KAT6A_ENST00000265713.2_Missense_Mutation_p.G1991D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1991					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTTGGGCACGCCAGCAGCGTT	0.463																																																	0													124	107	113					8																	41789766		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5972G>A	8.37:g.41789766C>T	ENSP00000380136:p.Gly1991Asp		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G1991D	ENST00000396930.3	37	c.5972	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375636	0.24857	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.78816	-1.21;-1.21;-1.21	5.93	5.93	0.95920	.	0.073144	0.56097	D	0.000022	T	0.82093	0.4962	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.82536	-0.0408	10	0.56958	D	0.05	-17.1619	15.7904	0.78357	0.0:0.8646:0.1354:0.0	.	1991	Q92794	KAT6A_HUMAN	D	1991	ENSP00000265713:G1991D;ENSP00000385888:G1991D;ENSP00000380136:G1991D	ENSP00000265713:G1991D	G	-	2	0	KAT6A	41908923	1.000000	0.71417	0.954000	0.39281	0.566000	0.35808	5.384000	0.66225	2.808000	0.96608	0.655000	0.94253	GGC	KAT6A	-	NULL		0.463	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	C	NM_006766		41789766	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	0.998	T	T	41789766	C	T	41789766	3	4	73	1	0	0	0	0	1	0	0	0	10127	739	26	4	46	4	MYST3	8	41789766	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	19830797	41789766	104574256	53	10627										
RRM2B	50484	genome.wustl.edu	37	chr8	103226329	103226329	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gatctccctgaccctttcttCtgaaggcttatttactaagt	6	11	3	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:103226329C>T	ENST00000251810.3	-	7	985	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Missense_Mutation_p.E36K|RRM2B_ENST00000395912.2_Missense_Mutation_p.E196K	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	248					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	ACCCTTTCTTCTGAAGGCTTA	0.373								Modulation of nucleotide pools																																									0													113	104	107					8																	103226329		2203	4300	6503	SO:0001583	missense	50484			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.742G>A	8.37:g.103226329C>T	ENSP00000251810:p.Glu248Lys		B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	pfam_RNR_small,superfamily_Ferritin/RNR-like	p.E248K	ENST00000251810.3	37	c.742	CCDS34932.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412166|3.412166	0.62511|0.62511	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000519317;ENST00000395912|ENST00000522368	D;D;D|.	0.97279|.	-4.32;-4.32;-4.32|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);|.	0.100333|.	0.64402|.	D|.	0.000002|.	T|T	0.53465|0.53465	0.1798|0.1798	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.12837|.	0.008;0.001;0.002|.	T|T	0.46911|0.46911	-0.9157|-0.9157	10|5	0.15499|.	T|.	0.54|.	.|.	19.7152|19.7152	0.96115|0.96115	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;196;248|.	Q7LG56-3;Q7LG56-2;Q7LG56|.	.;.;RIR2B_HUMAN|.	K|K	248;194;36;196|304	ENSP00000251810:E248K;ENSP00000430641:E36K;ENSP00000379248:E196K|.	ENSP00000251810:E248K|.	E|R	-|-	1|2	0|0	RRM2B|RRM2B	103295505|103295505	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	5.987000|5.987000	0.70571|0.70571	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GAA|AGA	RRM2B	-	pfam_RNR_small,superfamily_Ferritin/RNR-like		0.373	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2B	HGNC	protein_coding	OTTHUMT00000380191.3	C			103226329	-1	no_errors	ENST00000251810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103226329	C	T	103226329	3	4	73	1	0	0	0	0	1	0	0	0	13713	922	32	1	325	1	RRM2B	8	103226329	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	61436563	103226329	43137693	54	10628										
VLDLR	7436	genome.wustl.edu	37	chr9	2643293	2643293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgtgccccgccaacctgtggCgcccatgagttccagtgcag	12	15	0	1	rs148012674		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:2643293C>T	ENST00000382100.3	+	5	938	c.582C>T	c.(580-582)ggC>ggT	p.G194G	VLDLR_ENST00000382099.2_Silent_p.G194G|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	194	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CAACCTGTGGCGCCCATGAGT	0.597													C|||	1	0.000199681	0	0	5008	,	,		20175	0		0.001	False		,,,				2504	0																0								C	,	1,4405	2.1+/-5.4	0,1,2202	87	75	79		582,582	-7.8	0	9	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VLDLR	NM_001018056.1,NM_003383.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	194/846,194/874	2643293	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.582C>T	9.37:g.2643293C>T			B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G194	ENST00000382100.3	37	c.582	CCDS6446.1	9																																																																																			VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.597	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	C	NM_003383		2643293	1	no_errors	ENST00000382100	ensembl	human	known	70_37	silent	SNP	0.000	T	T	2643293	C	T	2643293	2	4	73	1	0	0	0	0	0	0	0	1	17205	755	27	2		2	VLDLR	9	2643293	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		2643293	138570138	55	10629										
C9orf93	203238	genome.wustl.edu	37	chr9	15695319	15695319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttggacagctttactgtgtcGggccagtggacatcaggtta	13	8	1	0	rs527328493		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:15695319G>A	ENST00000380701.3	+	11	1630	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	CCDC171_ENST00000297641.3_Silent_p.S434S	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	434																	TTACTGTGTCGGGCCAGTGGA	0.408													G|||	1	0.000199681	0	0	5008	,	,		20669	0		0	False		,,,				2504	0.001																0													153	141	145					9																	15695319		2203	4300	6503	SO:0001819	synonymous_variant	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1302G>A	9.37:g.15695319G>A			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	superfamily_STAT_TF_coiled-coil	p.S434	ENST00000380701.3	37	c.1302	CCDS6481.1	9																																																																																			CCDC171	-	NULL		0.408	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	G	NM_173550		15695319	1	no_errors	ENST00000380701	ensembl	human	known	70_37	silent	SNP	0.996	A	A	15695319	G	A	15695319	2	1	73	1	0	0	0	0	0	0	0	1	2511	1103	39	2		2	C9orf93	9	15695319	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	13052026	15695319	125518112	56	10630										
ZNF462	58499	genome.wustl.edu	37	chr9	109691647	109691647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcagatgagcatgagaagccCacactgatggaagaagagga	14	7	0	6			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:109691647C>T	ENST00000277225.5	+	3	5743	c.5454C>T	c.(5452-5454)ccC>ccT	p.P1818P	ZNF462_ENST00000441147.2_Silent_p.P663P|ZNF462_ENST00000457913.1_Silent_p.P1818P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1818					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGAGAAGCCCACACTGATGG	0.542																																																	0													88	85	86					9																	109691647		2203	4300	6503	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5454C>T	9.37:g.109691647C>T			Q5T0T4|Q8N408	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1818	ENST00000277225.5	37	c.5454	CCDS35096.1	9																																																																																			ZNF462	-	NULL		0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	C	NM_021224		109691647	1	no_errors	ENST00000457913	ensembl	human	known	70_37	silent	SNP	0.014	T	T	109691647	C	T	109691647	2	4	73	1	0	0	0	0	0	0	0	1	17956	581	21	4		4	ZNF462	9	109691647	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	93996328	109691647	31521784	57	10631										
C5	727	genome.wustl.edu	37	chr9	123800210	123800210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggcttcaagtcgtcattcaaCgaataaactctaacttttac	5	10	4	0	rs376535022		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:123800210C>T	ENST00000223642.1	-	4	470	c.441G>A	c.(439-441)tcG>tcA	p.S147S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	147					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CGTCATTCAACGAATAAACTC	0.254																																																	0								C		0,4392		0,0,2196	22	24	23		441	-3.9	0.9	9		23	1,8543		0,1,4271	no	coding-synonymous	C5	NM_001735.2		0,1,6467	TT,TC,CC		0.0117,0.0,0.0077		147/1677	123800210	1,12935	2196	4272	6468	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.441G>A	9.37:g.123800210C>T			Q14CJ0|Q27I61	Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S147	ENST00000223642.1	37	c.441	CCDS6826.1	9																																																																																			C5	-	pfam_A2M_N		0.254	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123800210	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	silent	SNP	0.663	T	T	123800210	C	T	123800210	2	4	73	1	0	0	0	0	0	0	0	1	2285	523	19	2		2	C5	9	123800210	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	14108563	123800210	17413221	58	10632										
GDF10	2662	genome.wustl.edu	37	chr10	48438679	48438679	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcagcagctggggcccgggtCccgggctggtccgagcgggg	21	13	0	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:48438679C>G	ENST00000224605.2	-	1	297	c.32G>C	c.(31-33)gGa>gCa	p.G11A		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	11					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCCGGGTCCCGGGCTGGT	0.721																																																	0													6	9	8					10																	48438679		1741	3794	5535	SO:0001583	missense	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.32G>C	10.37:g.48438679C>G	ENSP00000224605:p.Gly11Ala		Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.G11A	ENST00000224605.2	37	c.32	CCDS7220.1	10	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089096	0.20390	.	.	ENSG00000107623	ENST00000224605	T	0.74737	-0.87	3.2	-0.173	0.13322	.	0.716917	0.11471	N	0.560731	T	0.55625	0.1932	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.46707	-0.9172	10	0.56958	D	0.05	.	4.9527	0.14023	0.0:0.44:0.4282:0.1317	.	11	P55107	BMP3B_HUMAN	A	11	ENSP00000224605:G11A	ENSP00000224605:G11A	G	-	2	0	GDF10	48058685	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.380000	0.07427	0.181000	0.19994	0.563000	0.77884	GGA	GDF10	-	pirsf_BMP3/GDF10		0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	HGNC	protein_coding	OTTHUMT00000047884.1	C	NM_004962		48438679	-1	no_errors	ENST00000224605	ensembl	human	known	70_37	missense	SNP	0.000	G	G	48438679	C	G	48438679	3	3	73	1	0	0	0	0	1	0	0	0	6330	855	30	1	1416	1	GDF10	10	48438679	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		48438679	87096068	59	10633										
ZMIZ1	57178	genome.wustl.edu	37	chr10	81070929	81070929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggagcgtccgacatgccggaGccttcgctggatgtaagttg	15	10	0	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:81070929G>A	ENST00000334512.5	+	24	3656	c.3084G>A	c.(3082-3084)gaG>gaA	p.E1028E	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1028					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACATGCCGGAGCCTTCGCTGG	0.677																																																	0													60	65	63					10																	81070929		2203	4300	6503	SO:0001819	synonymous_variant	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3084G>A	10.37:g.81070929G>A			Q5JSH9|Q7Z7E6	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.E1028	ENST00000334512.5	37	c.3084	CCDS7357.1	10																																																																																			ZMIZ1	-	NULL		0.677	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	G	NM_020338		81070929	1	no_errors	ENST00000334512	ensembl	human	known	70_37	silent	SNP	1.000	A	A	81070929	G	A	81070929	2	1	73	1	0	0	0	0	0	0	0	1	17726	962	34	4		4	ZMIZ1	10	81070929	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	32632250	81070929	54463818	60	10634										
CALHM2	51063	genome.wustl.edu	37	chr10	105209516	105209516	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agcaccagggcgggcacgccGatggccgccagcccgtacag	15	16	0	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:105209516G>A	ENST00000260743.5	-	3	706	c.183C>T	c.(181-183)atC>atT	p.I61I	CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000393235.1_Silent_p.I61I|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.I61I	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	61					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CGGGCACGCCGATGGCCGCCA	0.652																																																	0													41	49	46					10																	105209516		2203	4299	6502	SO:0001819	synonymous_variant	51063			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.183C>T	10.37:g.105209516G>A			D3DR94|O95893|Q6ZUV9	Silent	SNP	NULL	p.I61	ENST00000260743.5	37	c.183	CCDS7549.1	10																																																																																			CALHM2	-	NULL		0.652	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM2	HGNC	protein_coding	OTTHUMT00000050159.1	G	NM_015916		105209516	-1	no_errors	ENST00000260743	ensembl	human	known	70_37	silent	SNP	0.736	A	A	105209516	G	A	105209516	2	1	73	1	0	0	0	0	0	0	0	1	2588	1048	37	1		1	CALHM2	10	105209516	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	24138587	105209516	30325231	61	10635										
BAG3	9531	genome.wustl.edu	37	chr10	121429618	121429618	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggggcatgccagaaaccactCagccagataaacagtgtgga	12	10	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:121429618C>T	ENST00000369085.3	+	2	742	c.436C>T	c.(436-438)Cag>Tag	p.Q146*		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	146	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGAAACCACTCAGCCAGATAA	0.657																																																	0													43	48	47					10																	121429618		2202	4299	6501	SO:0001587	stop_gained	9531			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.436C>T	10.37:g.121429618C>T	ENSP00000358081:p.Gln146*		A8K5L8|Q3B763|Q9NT20|Q9P120	Nonsense_Mutation	SNP	pfam_BAG_domain,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_Rsp5_WWP	p.Q146*	ENST00000369085.3	37	c.436	CCDS7615.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.040145	0.97226	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	.	.	.	5.28	5.28	0.74379	.	0.453611	0.20406	N	0.092947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.9867	18.547	0.91050	0.0:1.0:0.0:0.0	.	.	.	.	X	146;88	.	ENSP00000358081:Q146X	Q	+	1	0	BAG3	121419608	0.994000	0.37717	1.000000	0.80357	0.885000	0.51271	3.204000	0.51082	2.473000	0.83533	0.561000	0.74099	CAG	BAG3	-	NULL		0.657	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG3	HGNC	protein_coding	OTTHUMT00000050662.1	C	NM_004281		121429618	1	no_errors	ENST00000369085	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	121429618	C	T	121429618	4	4	73	1	0	0	0	0	0	1	0	0	1289	827	29	1	442	1	BAG3	10	121429618	Nonsense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	16220102	121429618	14105129	62	10636										
C11orf40	143501	genome.wustl.edu	37	chr11	4598948	4598948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cagcttaactttttctctctCtgggcaccagtgtgagctgt	9	11	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:4598948C>T	ENST00000307616.1	-	1	102	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	35										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ttttctctctctgggcaccag	0.592																																																	0													64	54	58					11																	4598948		2201	4298	6499	SO:0001583	missense	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.103G>A	11.37:g.4598948C>T	ENSP00000302918:p.Glu35Lys			Missense_Mutation	SNP	NULL	p.E35K	ENST00000307616.1	37	c.103	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	C	5.467	0.271193	0.10349	.	.	ENSG00000171987	ENST00000307616	T	0.54479	0.57	0.468	-0.565	0.11771	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.15052	0.012	T	0.16188	-1.0411	8	0.87932	D	0	.	.	.	.	.	35	Q8WZ69	CK040_HUMAN	K	35	ENSP00000302918:E35K	ENSP00000302918:E35K	E	-	1	0	C11orf40	4555524	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	-0.389000	0.07342	-0.344000	0.08338	-0.339000	0.08088	GAG	C11orf40	-	NULL		0.592	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1	C	NM_144663		4598948	-1	no_errors	ENST00000307616	ensembl	human	known	70_37	missense	SNP	0.004	T	T	4598948	C	T	4598948	3	4	73	1	0	0	0	0	1	0	0	0	1643	922	32	1	565	1	C11orf40	11	4598948	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		4598948	130407568	63	10637										
MADD	8567	genome.wustl.edu	37	chr11	47331143	47331143	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cacttctgcacaacctcatcTcctacatgctgctgatgaag	6	14	3	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:47331143T>A	ENST00000311027.5	+	28	4303	c.4138T>A	c.(4138-4140)Tcc>Acc	p.S1380T	MADD_ENST00000395344.3_Missense_Mutation_p.S1274T|MADD_ENST00000402799.1_Missense_Mutation_p.S1278T|MADD_ENST00000406482.1_Missense_Mutation_p.S1278T|MADD_ENST00000342922.4_Missense_Mutation_p.S1321T|MADD_ENST00000405573.2_Missense_Mutation_p.S190T|MADD_ENST00000349238.3_Missense_Mutation_p.S1341T|MADD_ENST00000402192.2_Missense_Mutation_p.S1320T|MADD_ENST00000407859.3_Missense_Mutation_p.S1298T|MADD_ENST00000395336.3_Missense_Mutation_p.S1380T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAACCTCATCTCCTACATGCT	0.512																																																	0													152	133	139					11																	47331143		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4138T>A	11.37:g.47331143T>A	ENSP00000310933:p.Ser1380Thr			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S1380T	ENST00000311027.5	37	c.4138	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509620	0.64522	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.47177	3.47;3.34;3.35;3.47;3.46;3.34;3.34;3.47;3.47;0.85	5.05	5.05	0.67936	.	0.056267	0.64402	D	0.000001	T	0.34019	0.0883	N	0.14661	0.345	0.43936	D	0.996598	P;B;B;B;B;B;B;B;B;B;B	0.39601	0.68;0.224;0.267;0.391;0.386;0.332;0.332;0.256;0.386;0.271;0.256	B;B;B;B;B;B;B;B;B;B;B	0.41412	0.356;0.08;0.08;0.287;0.167;0.167;0.108;0.234;0.234;0.15;0.234	T	0.32981	-0.9886	10	0.87932	D	0	-15.8773	10.6126	0.45432	0.0:0.0:0.3035:0.6965	.	190;1274;1274;1380;1278;1278;1278;1341;1298;1380;1321	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	T	1321;1278;1278;1278;1341;1380;1298;1274;1380;1320;190	ENSP00000343902:S1321T;ENSP00000385585:S1278T;ENSP00000384435:S1278T;ENSP00000304505:S1341T;ENSP00000310933:S1380T;ENSP00000384204:S1298T;ENSP00000378753:S1274T;ENSP00000378745:S1380T;ENSP00000384287:S1320T;ENSP00000384483:S190T	ENSP00000310933:S1380T	S	+	1	0	MADD	47287719	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.531000	0.67148	1.886000	0.54624	0.460000	0.39030	TCC	MADD	-	NULL		0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	T			47331143	1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47331143	T	A	47331143	3	1	73	1	0	0	0	0	1	0	0	0	9175	1551	54	5	4244	5	MADD	11	47331143	Missense_Mutation	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	42732195	47331143	87675373	64	10638										
OR8J3	81168	genome.wustl.edu	37	chr11	55904545	55904545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	acaaaacaatattgaaataaGatactagaactgtaatcatg	5	5	1	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:55904545G>A	ENST00000301529.1	-	1	649	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363																																																	0													90	92	91					11																	55904545		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.650C>T	11.37:g.55904545G>A	ENSP00000301529:p.Ser217Phe		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217F	ENST00000301529.1	37	c.650	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578915	0.46006	.	.	ENSG00000167822	ENST00000301529	T	0.42513	0.97	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.68430	0.3000	H	0.95079	3.62	0.21782	N	0.999542	P	0.38455	0.632	P	0.51016	0.656	T	0.67035	-0.5772	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	217	Q8NGG0	OR8J3_HUMAN	F	217	ENSP00000301529:S217F	ENSP00000301529:S217F	S	-	2	0	OR8J3	55661121	1.000000	0.71417	0.818000	0.32626	0.757000	0.42996	5.728000	0.68531	1.553000	0.49476	0.297000	0.19635	TCT	OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	G	NM_001004064		55904545	-1	no_errors	ENST00000301529	ensembl	human	known	70_37	missense	SNP	0.527	A	A	55904545	G	A	55904545	3	1	73	1	0	0	0	0	1	0	0	0	11266	942	33	1	299	1	OR8J3	11	55904545	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	8573402	55904545	79101971	65	10639										
OR8K5	219453	genome.wustl.edu	37	chr11	55927085	55927085	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggaaccacatgtggagaaagCctttttcctgccctctgcag	10	12	1	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:55927085C>G	ENST00000313447.1	-	1	708	c.709G>C	c.(709-711)Gct>Cct	p.A237P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																																	1	Substitution - Missense(1)	lung(1)											85	80	82					11																	55927085		2201	4296	6497	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>C	11.37:g.55927085C>G	ENSP00000323853:p.Ala237Pro		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237P	ENST00000313447.1	37	c.709	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500187	0.44455	.	.	ENSG00000181752	ENST00000313447	T	0.00363	7.83	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.01592	0.0051	H	0.99454	4.575	0.32250	N	0.571499	D	0.69078	0.997	D	0.67231	0.95	T	0.02766	-1.1113	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	P	237	ENSP00000323853:A237P	ENSP00000323853:A237P	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55927085	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55927085	C	G	55927085	3	3	73	1	0	0	0	0	1	0	0	0	11269	739	26	4	217	4	OR8K5	11	55927085	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	22540	55927085	79079431	66	10640										
OR5M1	390168	genome.wustl.edu	37	chr11	56380697	56380697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cactgtgtgaagcatccagcGtaggagatggtcttctgttc	12	9	2	2	rs371477399		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:56380697G>A	ENST00000526538.1	-	1	281	c.282C>T	c.(280-282)taC>taT	p.Y94Y		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGCATCCAGCGTAGGAGATGG	0.448																																																	0								G		1,3861		0,1,1930	152	141	144		282	-0.3	1	11		144	3,8267		0,3,4132	no	coding-synonymous	OR5M1	NM_001004740.1		0,4,6062	AA,AG,GG		0.0363,0.0259,0.033		94/316	56380697	4,12128	1931	4135	6066	SO:0001819	synonymous_variant	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.282C>T	11.37:g.56380697G>A			Q6IF60|Q96RB6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y94	ENST00000526538.1	37	c.282	CCDS53631.1	11																																																																																			OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56380697	-1	no_errors	ENST00000526538	ensembl	human	known	70_37	silent	SNP	0.015	A	A	56380697	G	A	56380697	2	1	73	1	0	0	0	0	0	0	0	1	11196	1140	40	2		2	OR5M1	11	56380697	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	453612	56380697	78625819	67	10641										
AHNAK	79026	genome.wustl.edu	37	chr11	62300590	62300590	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gagaacttggggactttcatCttgggcacattcagtttgct	11	8	3	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:62300590C>T	ENST00000378024.4	-	5	1573	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	433					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTTTCATCTTGGGCACAT	0.537																																																	0													89	90	90					11																	62300590		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1299G>A	11.37:g.62300590C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K433	ENST00000378024.4	37	c.1299	CCDS31584.1	11																																																																																			AHNAK	-	NULL		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62300590	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	silent	SNP	0.184	T	T	62300590	C	T	62300590	2	4	73	1	0	0	0	0	0	0	0	1	414	912	32	1		1	AHNAK	11	62300590	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	5919893	62300590	72705926	68	10642										
LGALS12	85329	genome.wustl.edu	37	chr11	63277954	63277954	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gccatttgtggagggcagcaGagagtacccagctggacatg	15	9	0	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:63277954G>A	ENST00000394618.3	+	5	869	c.578G>A	c.(577-579)aGa>aAa	p.R193K	LGALS12_ENST00000425950.2_Missense_Mutation_p.R132K|LGALS12_ENST00000415491.2_Missense_Mutation_p.R132K|LGALS12_ENST00000255684.5_Missense_Mutation_p.R193K|LGALS12_ENST00000340246.5_Missense_Mutation_p.R194K	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	193					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGGGCAGCAGAGAGTACCCA	0.557																																																	0													116	94	101					11																	63277954		2201	4298	6499	SO:0001583	missense	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.578G>A	11.37:g.63277954G>A	ENSP00000378116:p.Arg193Lys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.R194K	ENST00000394618.3	37	c.581	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	2.016	-0.425972	0.04701	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.07444	3.49;3.63;3.64;3.39;3.19	5.5	-5.04	0.02964	.	0.991339	0.08207	N	0.981292	T	0.02418	0.0074	N	0.05383	-0.06	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.44390	-0.9331	10	0.05351	T	0.99	-2.1934	1.7526	0.02975	0.4331:0.185:0.2603:0.1216	.	153;194;193;193	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	K	193;193;194;132;132	ENSP00000255684:R193K;ENSP00000378116:R193K;ENSP00000339374:R194K;ENSP00000394659:R132K;ENSP00000399093:R132K	ENSP00000255684:R193K	R	+	2	0	LGALS12	63034530	0.041000	0.20044	0.051000	0.19133	0.752000	0.42762	-0.208000	0.09371	-0.527000	0.06374	0.511000	0.50034	AGA	LGALS12	-	NULL		0.557	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	G	NM_033101		63277954	1	no_errors	ENST00000340246	ensembl	human	known	70_37	missense	SNP	0.005	A	A	63277954	G	A	63277954	3	1	73	1	0	0	0	0	1	0	0	0	8759	942	33	1	599	1	LGALS12	11	63277954	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	977364	63277954	71728562	69	10643										
EHD1	10938	genome.wustl.edu	37	chr11	64622268	64622268	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tggccagcatgtcatccaccGtgtccagcagcttgggcttc	11	14	1	0	rs199557517		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:64622268G>T	ENST00000320631.3	-	5	1396	c.1142C>A	c.(1141-1143)aCg>aAg	p.T381K	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.T381K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	381					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTCATCCACCGTGTCCAGCAG	0.637																																																	0													224	211	215					11																	64622268		2201	4297	6498	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1142C>A	11.37:g.64622268G>T	ENSP00000320516:p.Thr381Lys		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.T381K	ENST00000320631.3	37	c.1142	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286299	0.40494	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.40476	2.36;2.36;1.03	4.32	4.32	0.51571	.	0.211530	0.49305	D	0.000146	T	0.23846	0.0577	N	0.10874	0.06	0.45852	D	0.998717	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.06481	-1.0824	10	0.17832	T	0.49	.	14.3322	0.66564	0.0:0.0:1.0:0.0	.	381;381	B2R5U3;Q9H4M9	.;EHD1_HUMAN	K	381;381;357;245	ENSP00000320516:T381K;ENSP00000352354:T381K;ENSP00000391429:T245K	ENSP00000320516:T381K	T	-	2	0	EHD1	64378844	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	6.216000	0.72212	2.263000	0.75096	0.561000	0.74099	ACG	EHD1	-	NULL		0.637	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	G	NM_006795		64622268	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	missense	SNP	0.998	T	T	64622268	G	T	64622268	3	4	73	1	0	0	0	0	1	0	0	0	4987	1145	40	2	466	2	EHD1	11	64622268	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	1344314	64622268	70384248	70	10644										
CDK2AP2	10263	genome.wustl.edu	37	chr11	67274909	67274909	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tctttgcccatctcctctatGactgacagcaggtccgtgta	8	13	3	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:67274909G>A	ENST00000301488.3	-	3	788	c.240C>T	c.(238-240)gtC>gtT	p.V80V	PITPNM1_ENST00000436757.2_5'Flank|PITPNM1_ENST00000356404.3_5'Flank|CDK2AP2_ENST00000531506.1_Silent_p.V80V	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	80										lung(1)	1						TCTCCTCTATGACTGACAGCA	0.612																																																	0													63	65	64					11																	67274909		2200	4295	6495	SO:0001819	synonymous_variant	10263			AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"tumor suppressor deleted in oral cancer related 1"		"CDK2-associated protein 2"			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.240C>T	11.37:g.67274909G>A				Silent	SNP	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2	p.V80	ENST00000301488.3	37	c.240	CCDS8169.1	11																																																																																			CDK2AP2	-	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2		0.612	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2AP2	HGNC	protein_coding	OTTHUMT00000395535.1	G	NM_005851		67274909	-1	no_errors	ENST00000301488	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67274909	G	A	67274909	2	1	73	1	0	0	0	0	0	0	0	1	3144	1277	45	1		1	CDK2AP2	11	67274909	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	2652641	67274909	67731607	71	10645										
PICALM	8301	genome.wustl.edu	37	chr11	85779764	85779764	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atactgtcttggatacggcaGagccggtgacactgtgctgg	14	9	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:85779764G>A	ENST00000393346.3	-	1	207	c.59C>T	c.(58-60)tCt>tTt	p.S20F	PICALM_ENST00000356360.5_Missense_Mutation_p.S20F|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Missense_Mutation_p.S20F|PICALM_ENST00000532317.1_Missense_Mutation_p.S20F|PICALM_ENST00000528411.1_5'UTR			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	20	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGATACGGCAGAGCCGGTGAC	0.652			T	"MLLT10, MLL"	"TALL, AML, "																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													82	69	73					11																	85779764		2203	4299	6502	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.59C>T	11.37:g.85779764G>A	ENSP00000377015:p.Ser20Phe		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.S20F	ENST00000393346.3	37	c.59	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906900	0.52333	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000356360	T;T;T;T	0.17854	2.27;2.25;2.26;2.25	4.72	3.79	0.43588	ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.87900	2.915	0.80722	D	1	D;P;P	0.53312	0.959;0.692;0.624	P;P;P	0.60236	0.871;0.581;0.58	T	0.52697	-0.8541	9	.	.	.	-4.605	14.4762	0.67548	0.0:0.0:0.8518:0.1482	.	20;20;20	F8VPG7;Q13492;Q13492-3	.;PICAL_HUMAN;.	F	20	ENSP00000436958:S20F;ENSP00000433846:S20F;ENSP00000377015:S20F;ENSP00000348718:S20F	.	S	-	2	0	PICALM	85457412	1.000000	0.71417	0.928000	0.36995	0.020000	0.10135	8.952000	0.93031	1.310000	0.45006	0.557000	0.71058	TCT	PICALM	-	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N		0.652	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	G	NM_007166		85779764	-1	no_errors	ENST00000393346	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85779764	G	A	85779764	3	1	73	1	0	0	0	0	1	0	0	0	11904	942	33	1	2007	1	PICALM	11	85779764	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	18504855	85779764	49226752	72	10646										
CADM1	23705	genome.wustl.edu	37	chr11	115047213	115047213	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tctagatgaagtactctttcTtttcttcggagttgttctgt	8	7	5	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:115047213T>A	ENST00000452722.3	-	10	1330	c.1310A>T	c.(1309-1311)aAg>aTg	p.K437M	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Missense_Mutation_p.K438M|CADM1_ENST00000542447.2_Missense_Mutation_p.K409M|CADM1_ENST00000537058.1_Missense_Mutation_p.K448M|CADM1_ENST00000331581.6_Missense_Mutation_p.K466M	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTACTCTTTCTTTTCTTCGGA	0.433																																																	0													277	252	260					11																	115047213		2201	4296	6497	SO:0001583	missense	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1310A>T	11.37:g.115047213T>A	ENSP00000395359:p.Lys437Met			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.K437M	ENST00000452722.3	37	c.1310	CCDS8373.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.58|17.58	3.424126|3.424126	0.62733|0.62733	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325|ENST00000545380	T;T;T;T;T|.	0.76186|.	-1.0;-0.59;-0.27;-0.66;-0.54|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77961|0.77961	0.4209|0.4209	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.996;1.0|.	T|T	0.80089|0.80089	-0.1528|-0.1528	10|6	0.87932|.	D|.	0|.	.|.	15.5185|15.5185	0.75846|0.75846	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	448;410;437|.	F5H0J4;A4FVB5;Q9BY67|.	.;.;CADM1_HUMAN|.	M|N	409;437;448;438;368;466;122|407	ENSP00000439176:K409M;ENSP00000395359:K437M;ENSP00000439817:K448M;ENSP00000440322:K438M;ENSP00000329797:K466M|.	ENSP00000329797:K466M|.	K|K	-|-	2|3	0|2	CADM1|CADM1	114552423|114552423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	AAG|AAA	CADM1	-	NULL		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	T	NM_014333		115047213	-1	no_errors	ENST00000452722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115047213	T	A	115047213	3	1	73	1	0	0	0	0	1	0	0	0	2571	1609	56	5	22	5	CADM1	11	115047213	Missense_Mutation	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	29267449	115047213	19959303	73	10647										
OR10G8	219869	genome.wustl.edu	37	chr11	123901075	123901075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccactgtatcgtggtcctttGcttctttggccctggtcttt	9	12	2	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:123901075G>T	ENST00000431524.1	+	1	779	c.746G>T	c.(745-747)tGc>tTc	p.C249F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGGTCCTTTGCTTCTTTGGC	0.552																																																	0													143	124	130					11																	123901075		2201	4297	6498	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.746G>T	11.37:g.123901075G>T	ENSP00000389072:p.Cys249Phe		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C249F	ENST00000431524.1	37	c.746	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	G	4.238	0.043153	0.08196	.	.	ENSG00000234560	ENST00000431524	T	0.00051	8.81	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00109	0.0003	N	0.01352	-0.895	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63143	-0.6703	10	0.54805	T	0.06	.	7.0321	0.24972	0.0:0.1866:0.6227:0.1907	.	249	Q8NGN5	O10G8_HUMAN	F	249	ENSP00000389072:C249F	ENSP00000389072:C249F	C	+	2	0	OR10G8	123406285	0.333000	0.24731	0.985000	0.45067	0.105000	0.19272	1.973000	0.40550	1.611000	0.50210	0.557000	0.71058	TGC	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	G	NM_001004464		123901075	1	no_errors	ENST00000431524	ensembl	human	known	70_37	missense	SNP	0.001	T	T	123901075	G	T	123901075	3	4	73	1	0	0	0	0	1	0	0	0	10927	1319	46	4	748	4	OR10G8	11	123901075	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	8853862	123901075	11105441	74	10648										
WNK1	65125	genome.wustl.edu	37	chr12	970314	970314	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aagaaaaaaaaaagcaggaaGagagcagtctcaaacagcag	10	6	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr12:970314G>A	ENST00000315939.6	+	7	2399	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	WNK1_ENST00000537687.1_Missense_Mutation_p.E586K|WNK1_ENST00000535572.1_Missense_Mutation_p.E586K|WNK1_ENST00000530271.2_Missense_Mutation_p.E586K|WNK1_ENST00000340908.4_Missense_Mutation_p.E179K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	586					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAGCAGGAAGAGAGCAGTCT	0.478																																					Colon(19;451 567 6672 12618 28860)												0													104	97	99					12																	970314		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1756G>A	12.37:g.970314G>A	ENSP00000313059:p.Glu586Lys		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E586K	ENST00000315939.6	37	c.1756	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791480	0.70452	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	T	0.38904	0.1058	M	0.71581	2.175	0.33124	D	0.542195	P;P;P	0.51653	0.947;0.947;0.913	P;P;P	0.58077	0.832;0.832;0.684	T	0.37314	-0.9711	10	0.33141	T	0.24	-13.7709	19.774	0.96385	0.0:0.0:1.0:0.0	.	586;586;586	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	K	586;586;586;33;586;179	ENSP00000441972:E586K;ENSP00000313059:E586K;ENSP00000444465:E586K;ENSP00000433548:E586K;ENSP00000341292:E179K	ENSP00000252477:E33K	E	+	1	0	WNK1	840575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.213000	0.77950	2.679000	0.91253	0.591000	0.81541	GAG	WNK1	-	NULL		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979		970314	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	A	A	970314	G	A	970314	3	1	73	1	0	0	0	0	1	0	0	0	17408	943	33	1	1782	1	WNK1	12	970314	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		970314	132881581	75	10649										
AKAP3	10566	genome.wustl.edu	37	chr12	4736232	4736232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tccggcaccttgggttcaggGctctggtcacgcttgaaaat	12	11	3	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr12:4736232G>T	ENST00000545990.2	-	5	2360	c.1836C>A	c.(1834-1836)agC>agA	p.S612R	AKAP3_ENST00000228850.1_Missense_Mutation_p.S612R|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	612					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S612S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGGGTTCAGGGCTCTGGTCAC	0.468																																																	2	Substitution - coding silent(2)	endometrium(2)											69	67	68					12																	4736232		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1836C>A	12.37:g.4736232G>T	ENSP00000440994:p.Ser612Arg		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S612R	ENST00000545990.2	37	c.1836	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.290634	0.01387	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07327	3.2;3.2	5.69	2.82	0.32997	A-kinase anchor 110kDa, C-terminal (1);	0.686095	0.14720	N	0.302404	T	0.08044	0.0201	L	0.57536	1.79	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.43048	-0.9415	10	0.16896	T	0.51	-5.0292	4.792	0.13254	0.2386:0.0:0.6106:0.1508	.	612	O75969	AKAP3_HUMAN	R	612	ENSP00000228850:S612R;ENSP00000440994:S612R	ENSP00000228850:S612R	S	-	3	2	AKAP3	4606493	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.325000	0.19628	0.312000	0.23038	0.655000	0.94253	AGC	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	G	NM_006422		4736232	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4736232	G	T	4736232	3	4	73	1	0	0	0	0	1	0	0	0	452	1194	42	4	733	4	AKAP3	12	4736232	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	3765918	4736232	129115663	76	10650										
ACAD10	80724	genome.wustl.edu	37	chr12	112130576	112130576	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gtgtggagaacagccttcctGaaacacacccagcgcaggca	11	13	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr12:112130576G>A	ENST00000313698.4	+	2	218	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Silent_p.L21L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L21L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	21						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGCCTTCCTGAAACACACCC	0.602																																																	0													131	112	119					12																	112130576		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.63G>A	12.37:g.112130576G>A			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.L21	ENST00000313698.4	37	c.63	CCDS31903.1	12																																																																																			ACAD10	-	NULL		0.602	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	G	NM_025247		112130576	1	no_errors	ENST00000455480	ensembl	human	known	70_37	silent	SNP	0.006	A	A	112130576	G	A	112130576	2	1	73	1	0	0	0	0	0	0	0	1	108	1277	45	1		1	ACAD10	12	112130576	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	107394344	112130576	21721319	77	10651										
PARP4	143	genome.wustl.edu	37	chr13	25021323	25021323	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcctggtcatttggtcttctAtctatttataaaagaggaat	8	6	4	1	rs73172125		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:25021323A>G	ENST00000381989.3	-	26	3221	c.3116T>C	c.(3115-3117)aTa>aCa	p.I1039T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1039	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1039T(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGGTCTTCTATCTATTTATA	0.408																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)											40	41	41					13																	25021323		2203	4300	6503	SO:0001630	splice_region_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3115-1T>C	13.37:g.25021323A>G			O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.I1039T	ENST00000381989.3	37	c.3116	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297585	0.60086	.	.	ENSG00000102699	ENST00000381989	T	0.23147	1.92	4.69	4.69	0.59074	von Willebrand factor, type A (2);	0.215738	0.48767	D	0.000175	T	0.42177	0.1191	M	0.79475	2.455	0.40246	D	0.978015	P	0.45348	0.856	P	0.51055	0.657	T	0.48222	-0.9054	10	0.72032	D	0.01	-21.476	12.4624	0.55738	1.0:0.0:0.0:0.0	.	1039	Q9UKK3	PARP4_HUMAN	T	1039	ENSP00000371419:I1039T	ENSP00000371419:I1039T	I	-	2	0	PARP4	23919323	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.226000	0.58606	2.105000	0.64084	0.514000	0.50259	ATA	PARP4	-	pfam_VWF_A,pfscan_VWF_A		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	A	NM_006437	Missense_Mutation	25021323	-1	no_errors	ENST00000381989	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25021323	A	G	25021323	5	3	73	1	0	0	0	0	0	0	1	0	11487	463	16	5	2094	5	PARP4	13	25021323	Splice_Site	SNP	A	TCGA-EA-A3HT-01A-61D-A21Q-09		25021323	90148555	78	10652										
WASF3	10810	genome.wustl.edu	37	chr13	27250824	27250824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgtctcagagtgtgtaccatGgagcgtcttccgagggatcc	13	10	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:27250824G>A	ENST00000335327.5	+	7	857	c.679G>A	c.(679-681)Gga>Aga	p.G227R	WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	227					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGTGTACCATGGAGCGTCTTC	0.512																																																	0													174	163	166					13																	27250824		2203	4300	6503	SO:0001583	missense	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.679G>A	13.37:g.27250824G>A	ENSP00000335055:p.Gly227Arg		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G227R	ENST00000335327.5	37	c.679	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697577	0.88830	.	.	ENSG00000132970	ENST00000335327	T	0.47528	0.84	5.77	5.77	0.91146	.	0.145914	0.64402	D	0.000007	T	0.62245	0.2412	M	0.75264	2.295	0.80722	D	1	P	0.48834	0.916	P	0.50537	0.643	T	0.62789	-0.6780	10	0.48119	T	0.1	-22.5296	19.9634	0.97258	0.0:0.0:1.0:0.0	.	227	Q9UPY6	WASF3_HUMAN	R	227	ENSP00000335055:G227R	ENSP00000335055:G227R	G	+	1	0	WASF3	26148824	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.363000	0.97131	2.726000	0.93360	0.591000	0.81541	GGA	WASF3	-	NULL		0.512	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	G			27250824	1	no_errors	ENST00000335327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27250824	G	A	27250824	3	1	73	1	0	0	0	0	1	0	0	0	17285	1349	47	4	697	4	WASF3	13	27250824	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	2229501	27250824	87919054	79	10653										
KL	9365	genome.wustl.edu	37	chr13	33629357	33629357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgttctaccaaaagctgataGagaaaaatggcttccctcct	7	10	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:33629357G>A	ENST00000380099.3	+	3	1512	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.E195K	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	502	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAAGCTGATAGAGAAAAATGG	0.443																																																	0													142	131	135					13																	33629357		2203	4300	6503	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1504G>A	13.37:g.33629357G>A	ENSP00000369442:p.Glu502Lys		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E502K	ENST00000380099.3	37	c.1504	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054491	0.36277	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.31769	1.48;1.59	6.03	6.03	0.97812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.100408	0.64402	D	0.000002	T	0.15565	0.0375	N	0.08118	0	0.48975	D	0.999731	B;B	0.17852	0.024;0.012	B;B	0.25140	0.058;0.027	T	0.08166	-1.0735	10	0.02654	T	1	-38.5025	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	502;195	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	K	195;502	ENSP00000399513:E195K;ENSP00000369442:E502K	ENSP00000369442:E502K	E	+	1	0	KL	32527357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.861000	0.98227	0.655000	0.94253	GAG	KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.443	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	G			33629357	1	no_errors	ENST00000380099	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33629357	G	A	33629357	3	1	73	1	0	0	0	0	1	0	0	0	8351	943	33	1	1514	1	KL	13	33629357	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	6378533	33629357	81540521	80	10654										
BIVM	54841	genome.wustl.edu	37	chr13	103468786	103468786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cttgtattctaggcaatgcaAagaaacaagtttccaagaga	8	7	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:103468786A>G	ENST00000257336.1	+	4	1166	c.487A>G	c.(487-489)Aag>Gag	p.K163E	BIVM_ENST00000419638.1_Missense_Mutation_p.K163E|BIVM_ENST00000448849.2_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.K134R	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	163						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCAATGCAAAGAAACAAGT	0.313																																																	0													70	68	69					13																	103468786		2203	4298	6501	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.487A>G	13.37:g.103468786A>G	ENSP00000257336:p.Lys163Glu		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	NULL	p.K163E	ENST00000257336.1	37	c.487	CCDS9505.1	13	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154448	0.57259	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	5.88	0.94601	.	0.178889	0.47852	D	0.000207	T	0.63745	0.2537	L	0.34521	1.04	0.80722	D	1	D;P	0.62365	0.991;0.873	P;B	0.58331	0.837;0.385	T	0.66424	-0.5927	9	0.62326	D	0.03	.	16.2997	0.82804	1.0:0.0:0.0:0.0	.	134;163	Q59FZ7;Q86UB2	.;BIVM_HUMAN	E	163;163;134	.	ENSP00000257336:K163E	K	+	1	0	ERCC5;BIVM	102266787	1.000000	0.71417	0.995000	0.50966	0.527000	0.34593	7.642000	0.83385	2.250000	0.74265	0.528000	0.53228	AAG	BIVM	-	NULL		0.313	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	A			103468786	1	no_errors	ENST00000257336	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103468786	A	G	103468786	3	3	73	1	0	0	0	0	1	0	0	0	1442	15	1	5	493	5	BIVM	13	103468786	Missense_Mutation	SNP	A	TCGA-EA-A3HT-01A-61D-A21Q-09	69839429	103468786	11701092	81	10655										
EDDM3B	64184	genome.wustl.edu	37	chr14	21238475	21238475	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aatgtgatgtcctcatgagaGaaaatgaagctctgaaagac	10	6	2	6			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:21238475G>T	ENST00000326783.3	+	2	264	c.166G>T	c.(166-168)Gaa>Taa	p.E56*		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	56						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCTCATGAGAGAAAATGAAGC	0.388																																																	0													110	106	107					14																	21238475		2203	4300	6503	SO:0001587	stop_gained	64184			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.166G>T	14.37:g.21238475G>T	ENSP00000314810:p.Glu56*		A0PK89	Nonsense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	p.E56*	ENST00000326783.3	37	c.166	CCDS9557.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989763	0.74589	.	.	ENSG00000181552	ENST00000326783	.	.	.	4.05	2.16	0.27623	.	0.932944	0.08872	N	0.881480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.3027	0.15788	0.1149:0.2083:0.6768:0.0	.	.	.	.	X	56	.	ENSP00000314810:E56X	E	+	1	0	EDDM3B	20308315	0.000000	0.05858	0.004000	0.12327	0.902000	0.53008	0.313000	0.19415	0.341000	0.23771	0.561000	0.74099	GAA	EDDM3B	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.388	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3B	HGNC	protein_coding	OTTHUMT00000073745.2	G			21238475	1	no_errors	ENST00000326783	ensembl	human	known	70_37	nonsense	SNP	0.002	T	T	21238475	G	T	21238475	4	4	73	1	0	0	0	0	0	1	0	0	4920	943	33	3	168	3	EDDM3B	14	21238475	Nonsense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		21238475	86111065	82	10656										
SOCS4	122809	genome.wustl.edu	37	chr14	55510091	55510091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aataaagaattgtagtagtcGgcactcttcagggcttccgt	10	8	2	1	rs368652531		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:55510091G>A	ENST00000395472.2	+	2	664	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	SOCS4_ENST00000555846.1_Missense_Mutation_p.R111Q|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111Q	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	111					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGTAGTAGTCGGCACTCTTCA	0.428																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77	79	79		332,332	5.5	1	14		79	0,8598		0,0,4299	no	missense,missense	SOCS4	NM_080867.2,NM_199421.1	43,43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	111/441,111/441	55510091	1,13003	2203	4299	6502	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.332G>A	14.37:g.55510091G>A	ENSP00000378855:p.Arg111Gln			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R111Q	ENST00000395472.2	37	c.332	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425257	0.43020	2.27E-4	0.0	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.30448	1.53;1.53;1.53	5.52	5.52	0.82312	.	0.180736	0.37906	N	0.001883	T	0.47248	0.1435	L	0.44542	1.39	0.44289	D	0.997157	D	0.76494	0.999	D	0.64144	0.922	T	0.16453	-1.0402	10	0.32370	T	0.25	-13.5262	19.4425	0.94827	0.0:0.0:1.0:0.0	.	111	Q8WXH5	SOCS4_HUMAN	Q	111	ENSP00000378855:R111Q;ENSP00000452522:R111Q;ENSP00000341327:R111Q	ENSP00000341327:R111Q	R	+	2	0	SOCS4	54579844	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.231000	0.78106	2.594000	0.87642	0.655000	0.94253	CGG	SOCS4	-	pfam_SOCS		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55510091	1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	0.994	A	A	55510091	G	A	55510091	3	1	73	1	0	0	0	0	1	0	0	0	14946	1116	39	2	334	2	SOCS4	14	55510091	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	34271616	55510091	51839449	83	10657										
GOLGA5	9950	genome.wustl.edu	37	chr14	93264171	93264171	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gtttgattttcttaatagttCacagaaggagcctaccggga	10	7	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:93264171C>T	ENST00000163416.2	+	2	645	c.389C>T	c.(388-390)tCa>tTa	p.S130L	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S130L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	130					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTTAATAGTTCACAGAAGGAG	0.448			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													65	65	65					14																	93264171		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.389C>T	14.37:g.93264171C>T	ENSP00000163416:p.Ser130Leu		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.S130L	ENST00000163416.2	37	c.389	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997999	0.93227	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.43294	0.96;0.95	5.65	5.65	0.86999	.	0.000000	0.43919	D	0.000514	T	0.61337	0.2339	M	0.67953	2.075	0.80722	D	1	D	0.65815	0.995	P	0.58721	0.844	T	0.60924	-0.7166	10	0.56958	D	0.05	-10.2435	20.0965	0.97849	0.0:1.0:0.0:0.0	.	130	Q8TBA6	GOGA5_HUMAN	L	130	ENSP00000163416:S130L;ENSP00000348252:S130L	ENSP00000163416:S130L	S	+	2	0	GOLGA5	92333924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.765000	0.74965	2.824000	0.97209	0.655000	0.94253	TCA	GOLGA5	-	NULL		0.448	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	C			93264171	1	no_errors	ENST00000163416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	93264171	C	T	93264171	3	4	73	1	0	0	0	0	1	0	0	0	6575	838	29	1	391	1	GOLGA5	14	93264171	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	37754080	93264171	14085369	84	10658										
PRIMA1	145270	genome.wustl.edu	37	chr14	94245521	94245521	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atggagtgagccattacttaCctggggcggagaggagtctg	16	7	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:94245521C>T	ENST00000393140.1	-	3	332		c.e3+1		PRIMA1_ENST00000393143.1_Splice_Site|PRIMA1_ENST00000316227.3_Splice_Site	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1						establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CCATTACTTACCTggggcgga	0.647																																																	0													14	15	15					14																	94245521		2175	4253	6428	SO:0001630	splice_region_variant	145270				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.229+1G>A	14.37:g.94245521C>T			Q86XR6	Splice_Site	SNP	-	e2+1	ENST00000393140.1	37	c.229+1	CCDS9912.1	14	.	.	.	.	.	.	.	.	.	.	c	15.80	2.941362	0.53079	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0054	0.58701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRIMA1	93315274	1.000000	0.71417	0.997000	0.53966	0.702000	0.40608	3.737000	0.55060	2.140000	0.66376	0.556000	0.70494	.	PRIMA1	-	-		0.647	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1	C	NM_178013	Intron	94245521	-1	no_errors	ENST00000393140	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	94245521	C	T	94245521	5	4	73	1	0	0	0	0	0	0	1	0	12519	521	18	4	243	4	PRIMA1	14	94245521	Splice_Site	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	981350	94245521	13104019	85	10659										
TUBGCP5	114791	genome.wustl.edu	37	chr15	22867488	22867488	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tactgcagaaaaaccacgacTtaaagaaggccttatacatg	7	9	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr15:22867488T>G	ENST00000283645.4	+	19	2694	c.2564T>G	c.(2563-2565)cTt>cGt	p.L855R	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.L855R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	855					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAACCACGACTTAAAGAAGGC	0.433																																																	0													142	125	131					15																	22867488		2203	4300	6503	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2564T>G	15.37:g.22867488T>G	ENSP00000283645:p.Leu855Arg		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.L855R	ENST00000283645.4	37	c.2564	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	T	5.054	0.195714	0.09599	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.27720	1.65;1.65	4.85	-5.37	0.02681	.	1.784700	0.02427	N	0.083160	T	0.17195	0.0413	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12372	-1.0550	10	0.15066	T	0.55	0.4691	4.4844	0.11783	0.1013:0.4378:0.2065:0.2544	.	855;855	Q96RT8;E9PB12	GCP5_HUMAN;.	R	855	ENSP00000283645:L855R;ENSP00000409217:L855R	ENSP00000283645:L855R	L	+	2	0	TUBGCP5	20418929	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.871000	0.01640	-0.905000	0.03871	-0.993000	0.02533	CTT	TUBGCP5	-	pfam_Spc97_Spc98		0.433	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	T	NM_052903		22867488	1	no_errors	ENST00000283645	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22867488	T	G	22867488	3	3	73	1	0	0	0	0	1	0	0	0	16800	1609	56	5	2638	5	TUBGCP5	15	22867488	Missense_Mutation	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09		22867488	79663904	86	10660										
GRAMD2	196996	genome.wustl.edu	37	chr15	72457721	72457721	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ctcaggttcccctgaaaattCtcttacactcagactcttct	4	14	5	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr15:72457721C>T	ENST00000309731.7	-	8	587	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	192						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTGAAAATTCTCTTACACTC	0.547																																																	0													105	106	105					15																	72457721		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.574G>A	15.37:g.72457721C>T	ENSP00000311657:p.Glu192Lys		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E192K	ENST00000309731.7	37	c.574	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	6.722	0.501939	0.12822	.	.	ENSG00000175318	ENST00000309731	T	0.33216	1.42	5.4	2.22	0.28083	.	0.277048	0.34879	N	0.003612	T	0.17152	0.0412	L	0.29908	0.895	0.37729	D	0.925218	B	0.09022	0.002	B	0.11329	0.006	T	0.12785	-1.0534	10	0.19590	T	0.45	.	4.3283	0.11051	0.0:0.5829:0.1818:0.2353	.	192	Q8IUY3	GRAM2_HUMAN	K	192	ENSP00000311657:E192K	ENSP00000311657:E192K	E	-	1	0	GRAMD2	70244775	1.000000	0.71417	0.208000	0.23602	0.194000	0.23727	1.098000	0.31000	0.117000	0.18138	-0.818000	0.03119	GAA	GRAMD2	-	NULL		0.547	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	C	NM_001012642		72457721	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	0.997	T	T	72457721	C	T	72457721	3	4	73	1	0	0	0	0	1	0	0	0	6770	922	32	1	510	1	GRAMD2	15	72457721	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	49590233	72457721	30073671	87	10661										
COX5A	9377	genome.wustl.edu	37	chr15	75219205	75219205	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tttgggctctggaaccatatCataggtaacaagtgtgttta	10	6	2	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr15:75219205C>T	ENST00000322347.6	-	3	394	c.241G>A	c.(241-243)Gat>Aat	p.D81N	COX5A_ENST00000562233.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.D81N|COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000567270.1_Missense_Mutation_p.D42N|COX5A_ENST00000564811.1_Missense_Mutation_p.D81N	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	81					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GGAACCATATCATAGGTAACA	0.388																																																	0													77	74	75					15																	75219205		2197	4295	6492	SO:0001583	missense	9377			M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.241G>A	15.37:g.75219205C>T	ENSP00000317780:p.Asp81Asn		P30045|Q8TB65	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6	p.D81N	ENST00000322347.6	37	c.241	CCDS10273.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.534900	0.96460	.	.	ENSG00000178741	ENST00000322347	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89198	0.3555	9	0.87932	D	0	-16.8175	18.5377	0.91017	0.0:1.0:0.0:0.0	.	81	P20674	COX5A_HUMAN	N	81	.	ENSP00000317780:D81N	D	-	1	0	COX5A	73006258	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.345000	0.79337	2.726000	0.93360	0.655000	0.94253	GAT	COX5A	-	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6		0.388	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5A	HGNC	protein_coding	OTTHUMT00000286417.1	C	NM_004255		75219205	-1	no_errors	ENST00000322347	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75219205	C	T	75219205	3	4	73	1	0	0	0	0	1	0	0	0	3777	826	29	1	219	1	COX5A	15	75219205	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	2761484	75219205	27312187	88	10662										
SLC7A6	9057	genome.wustl.edu	37	chr16	68328701	68328701	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cctatccctgctttactgttCaatgtaagctttgctgggac	8	11	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr16:68328701C>T	ENST00000566454.1	+	9	1385	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	SLC7A6_ENST00000219343.6_Silent_p.F372F	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTTTACTGTTCAATGTAAGCT	0.512																																																	0													179	158	165					16																	68328701		2198	4300	6498	SO:0001819	synonymous_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1116C>T	16.37:g.68328701C>T				Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.F372	ENST00000566454.1	37	c.1116	CCDS32470.1	16																																																																																			SLC7A6	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.512	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000432466.1	C	NM_003983		68328701	1	no_errors	ENST00000219343	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68328701	C	T	68328701	2	4	73	1	0	0	0	0	0	0	0	1	14731	825	29	1		1	SLC7A6	16	68328701	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		68328701	22026052	89	10663										
TM4SF5	9032	genome.wustl.edu	37	chr17	4686189	4686189	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcactctatgggatcggtgcGaggcgccccctcgcgtggtc	15	14	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:4686189G>C	ENST00000270560.3	+	4	467	c.436G>C	c.(436-438)Gag>Cag	p.E146Q		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	146						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						GGATCGGTGCGAGGCGCCCCC	0.667																																																	0													58	58	58					17																	4686189		2203	4300	6503	SO:0001583	missense	9032			AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"transmembrane 4 superfamily member 5"			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.436G>C	17.37:g.4686189G>C	ENSP00000270560:p.Glu146Gln		Q17RW9|Q6IB79	Missense_Mutation	SNP	pfam_L6_membrane	p.E146Q	ENST00000270560.3	37	c.436	CCDS11054.1	17	.	.	.	.	.	.	.	.	.	.	G	7.672	0.687229	0.14973	.	.	ENSG00000142484	ENST00000270560	T	0.32272	1.46	5.71	-7.38	0.01407	.	1.403430	0.03826	N	0.268292	T	0.14313	0.0346	N	0.20881	0.62	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18681	-1.0329	10	0.11485	T	0.65	-4.0388	3.7856	0.08698	0.2628:0.3771:0.2733:0.0868	.	146	O14894	T4S5_HUMAN	Q	146	ENSP00000270560:E146Q	ENSP00000270560:E146Q	E	+	1	0	TM4SF5	4632936	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.841000	0.04359	-0.783000	0.04534	-0.740000	0.03531	GAG	TM4SF5	-	pfam_L6_membrane		0.667	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF5	HGNC	protein_coding	OTTHUMT00000207558.2	G			4686189	1	no_errors	ENST00000270560	ensembl	human	known	70_37	missense	SNP	0.000	C	C	4686189	G	C	4686189	3	2	73	1	0	0	0	0	1	0	0	0	16001	1059	37	1	450	1	TM4SF5	17	4686189	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		4686189	76509021	90	10664										
USP43	124739	genome.wustl.edu	37	chr17	9632113	9632113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggggcctgggcagccggctcGagagggatgtctggtcagcc	19	11	2	1	rs371675908		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:9632113G>A	ENST00000285199.7	+	15	3274	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.E1055K	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1060					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CAGCCGGCTCGAGAGGGATGT	0.687																																																	0								G	LYS/GLU	0,3778		0,0,1889	17	20	19		3178	4.1	1	17		19	3,8225		0,3,4111	no	missense	USP43	NM_153210.3	56	0,3,6000	AA,AG,GG		0.0365,0.0,0.025	possibly-damaging	1060/1124	9632113	3,12003	1889	4114	6003	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3178G>A	17.37:g.9632113G>A	ENSP00000285199:p.Glu1060Lys		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E1060K	ENST00000285199.7	37	c.3178	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763809	0.49574	0.0	3.65E-4	ENSG00000154914	ENST00000285199	T	0.10763	2.84	5.09	4.11	0.48088	.	10.193600	0.00166	N	0.000002	T	0.30541	0.0768	L	0.57536	1.79	0.21105	N	0.999786	D;D;D;D	0.76494	0.996;0.998;0.992;0.999	P;P;P;P	0.61201	0.565;0.748;0.484;0.885	T	0.11372	-1.0590	10	0.41790	T	0.15	-19.1762	11.3959	0.49841	0.0:0.182:0.818:0.0	.	1055;749;1060;572	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	K	1060	ENSP00000285199:E1060K	ENSP00000285199:E1060K	E	+	1	0	USP43	9572838	0.979000	0.34478	0.971000	0.41717	0.245000	0.25701	1.892000	0.39748	1.347000	0.45714	0.655000	0.94253	GAG	USP43	-	NULL		0.687	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	G	NM_153210		9632113	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.440	A	A	9632113	G	A	9632113	3	1	73	1	0	0	0	0	1	0	0	0	17105	1059	37	1	3236	1	USP43	17	9632113	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	4945924	9632113	71563097	91	10665										
MED1	5469	genome.wustl.edu	37	chr17	37571589	37571589	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	caaattggagaagcccaggaGaatctaaaaggcaaagagaa	11	6	1	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:37571589G>A	ENST00000394287.3	-	15	1506	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	MED1_ENST00000300651.6_Missense_Mutation_p.S434F			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAGCCCAGGAGAATCTAAAAG	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													44	39	41					17																	37571589		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1301C>T	17.37:g.37571589G>A	ENSP00000377828:p.Ser434Phe		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S434F	ENST00000394287.3	37	c.1301		17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266939	0.40095	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.33865	1.39	5.7	3.66	0.41972	.	.	.	.	.	T	0.19846	0.0477	N	0.12182	0.205	0.39632	D	0.970198	P;B	0.44195	0.828;0.178	B;B	0.38880	0.284;0.074	T	0.02743	-1.1116	9	0.09590	T	0.72	-1.6198	15.9081	0.79447	0.0:0.3836:0.6164:0.0	.	434;434	Q15648;Q15648-3	MED1_HUMAN;.	F	434	ENSP00000300651:S434F	ENSP00000300651:S434F	S	-	2	0	MED1	34825115	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.730000	0.55006	0.739000	0.32628	0.644000	0.83932	TCT	MED1	-	NULL		0.478	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	G	NM_004774		37571589	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37571589	G	A	37571589	3	1	73	1	0	0	0	0	1	0	0	0	9448	942	33	1	3456	1	MED1	17	37571589	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	27939476	37571589	43623621	92	10666										
C17orf46	124783	genome.wustl.edu	37	chr17	43332973	43332973	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttggtggggatggcctcccgGagcggggatctgatgggctg	20	8	1	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:43332973G>A	ENST00000331780.4	-	4	671	c.576C>T	c.(574-576)ctC>ctT	p.L192L	MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Silent_p.L171L|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	192					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGGCCTCCCGGAGCGGGGATC	0.642																																																	0													80	69	73					17																	43332973		2203	4300	6503	SO:0001819	synonymous_variant	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.576C>T	17.37:g.43332973G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.L192	ENST00000331780.4	37	c.576	CCDS32669.1	17																																																																																			SPATA32	-	NULL		0.642	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43332973	-1	no_errors	ENST00000331780	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43332973	G	A	43332973	2	1	73	1	0	0	0	0	0	0	0	1	1861	1161	41	1		1	C17orf46	17	43332973	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	5761384	43332973	37862237	93	10667										
ANKFN1	162282	genome.wustl.edu	37	chr17	54534305	54534305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tccattcctcgaacaagtttGtgaagaccttaaaacggtgg	9	9	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:54534305G>T	ENST00000318698.2	+	11	1335	c.1300G>T	c.(1300-1302)Gtg>Ttg	p.V434L	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V434L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	434										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAACAAGTTTGTGAAGACCTT	0.383																																																	0													62	61	62					17																	54534305		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1300G>T	17.37:g.54534305G>T	ENSP00000321627:p.Val434Leu			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.V434L	ENST00000318698.2	37	c.1300	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	8.025	0.760540	0.15914	.	.	ENSG00000153930	ENST00000318698	T	0.29142	1.58	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	L	0.48642	1.525	0.58432	D	0.999999	B	0.21753	0.06	B	0.20577	0.03	T	0.18650	-1.0330	10	0.05959	T	0.93	-12.117	20.2187	0.98312	0.0:0.0:1.0:0.0	.	434	Q8N957	ANKF1_HUMAN	L	434	ENSP00000321627:V434L	ENSP00000321627:V434L	V	+	1	0	ANKFN1	51889304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GTG	ANKFN1	-	NULL		0.383	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	G	NM_153228		54534305	1	no_errors	ENST00000318698	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54534305	G	T	54534305	3	4	73	1	0	0	0	0	1	0	0	0	625	1377	48	4	1342	4	ANKFN1	17	54534305	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	11201332	54534305	26660905	94	10668										
KCNH6	81033	genome.wustl.edu	37	chr17	61611639	61611639	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	atggtggccgccatccctttCgacctcctgatcttccgcac	8	17	1	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:61611639C>T	ENST00000583023.1	+	5	1079	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KCNH6_ENST00000581784.1_Silent_p.F356F|KCNH6_ENST00000314672.5_Silent_p.F356F|KCNH6_ENST00000580652.1_Silent_p.F356F|KCNH6_ENST00000456941.2_Silent_p.F356F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	356					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCATCCCTTTCGACCTCCTGA	0.622																																																	0													124	95	105					17																	61611639		2203	4300	6503	SO:0001819	synonymous_variant	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1068C>T	17.37:g.61611639C>T			Q9BRD7	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.F356	ENST00000583023.1	37	c.1068	CCDS11638.1	17																																																																																			KCNH6	-	pfam_Ion_trans_dom		0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	C	NM_030779		61611639	1	no_errors	ENST00000583023	ensembl	human	known	70_37	silent	SNP	0.502	T	T	61611639	C	T	61611639	2	4	73	1	0	0	0	0	0	0	0	1	8056	883	31	1		1	KCNH6	17	61611639	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	7077334	61611639	19583571	95	10669										
BIRC5	332	genome.wustl.edu	37	chr17	76212853	76212853	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ctggacagagaaagagccaaGaacaaaattgtatgtattgg	11	5	0	3	rs77256336		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:76212853G>C	ENST00000350051.3	+	3	449	c.330G>C	c.(328-330)aaG>aaC	p.K110N	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|AC087645.1_ENST00000600484.1_Missense_Mutation_p.F248L|BIRC5_ENST00000301633.4_Missense_Mutation_p.K133N|BIRC5_ENST00000592734.1_Intron	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	110					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			AAAGAGCCAAGAACAAAATTG	0.398																																																	0													62	67	65					17																	76212853		2203	4300	6503	SO:0001583	missense	0			U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"Baculoviral IAP repeat containing"	593	protein-coding gene	gene with protein product	"survivin variant 3 alpha"	603352	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.330G>C	17.37:g.76212853G>C	ENSP00000324180:p.Lys110Asn		A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	NULL	p.F248L	ENST00000350051.3	37	c.744	CCDS11755.1	17	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362711	0.61403	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.03920	3.76;3.76	5.7	3.47	0.39725	Baculoviral inhibition of apoptosis protein repeat (1);	0.525169	0.22458	N	0.059792	T	0.13500	0.0327	M	0.72894	2.215	0.80722	D	1	P;D;D;D	0.76494	0.842;0.997;0.991;0.999	P;D;D;D	0.66979	0.5;0.928;0.948;0.947	T	0.02417	-1.1162	10	0.51188	T	0.08	-0.4831	2.8668	0.05604	0.204:0.0:0.5446:0.2514	.	110;110;133;110	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	N	133;110;133	ENSP00000301633:K133N;ENSP00000324180:K110N	ENSP00000301633:K133N	K	+	3	2	BIRC5	73724448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.462000	0.45049	1.360000	0.45960	0.455000	0.32223	AAG	AC087645.1	-	NULL		0.398	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268310	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000437231.2	G	NM_001168		76212853	-1	no_errors	ENST00000600484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76212853	G	C	76212853	3	2	73	1	0	0	0	0	1	0	0	0	1438	933	33	1	413	1	BIRC5	17	76212853	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	14601214	76212853	4982357	96	10670										
RNF213	57674	genome.wustl.edu	37	chr17	78321462	78321462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ctcaacctgcagaacctctaCgagagcctctacgacgcact	7	16	3	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:78321462C>T	ENST00000582970.1	+	29	9470	c.9327C>T	c.(9325-9327)taC>taT	p.Y3109Y	RNF213_ENST00000508628.2_Silent_p.Y3158Y|RNF213_ENST00000336301.6_Silent_p.Y1182Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3109					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAACCTCTACGAGAGCCTCT	0.552																																																	0													88	87	87					17																	78321462		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9327C>T	17.37:g.78321462C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Y3109	ENST00000582970.1	37	c.9327	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78321462	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.721	T	T	78321462	C	T	78321462	2	4	73	1	0	0	0	0	0	0	0	1	13507	547	19	2		2	RNF213	17	78321462	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	2108609	78321462	2873748	97	10671										
SMAD4	4089	genome.wustl.edu	37	chr18	48593411	48593411	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tgcacataggcaaaggtgtgCagttggaatgtaaaggtgaa	14	4	0	1	rs80338964		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr18:48593411C>T	ENST00000342988.3	+	10	1700	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q388*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q292*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	388	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAAAGGTGTGCAGTTGGAATG	0.388																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM004255	SMAD4	M	rs80338964						206	169	182					18																	48593411		2203	4300	6503	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1162C>T	18.37:g.48593411C>T	ENSP00000341551:p.Gln388*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q388*	ENST00000342988.3	37	c.1162	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	43	10.108435	0.99338	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.5072	0.90901	0.0:1.0:0.0:0.0	.	.	.	.	X	388	.	ENSP00000341551:Q388X	Q	+	1	0	SMAD4	46847409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.662000	0.90505	0.563000	0.77884	CAG	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.388	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48593411	1	no_errors	ENST00000342988	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48593411	C	T	48593411	4	4	73	1	0	0	0	0	0	1	0	0	14790	711	25	4	1196	4	SMAD4	18	48593411	Nonsense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		48593411	29483837	98	10672										
ZNF236	7776	genome.wustl.edu	37	chr18	74637258	74637258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccttcaaatgcccgcattgcGagctgcgtttccgtacctcg	9	15	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr18:74637258G>A	ENST00000253159.8	+	22	3967	c.3769G>A	c.(3769-3771)Gag>Aag	p.E1257K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1259K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1257					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCGCATTGCGAGCTGCGTTT	0.537																																																	0													55	58	57					18																	74637258		2026	4185	6211	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3769G>A	18.37:g.74637258G>A	ENSP00000253159:p.Glu1257Lys		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1257K	ENST00000253159.8	37	c.3769	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009506	0.93346	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.60548	0.18;0.18	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.154131	0.48767	D	0.000173	T	0.43545	0.1252	N	0.17248	0.465	0.44908	D	0.997922	P	0.46142	0.873	B	0.38880	0.284	T	0.44251	-0.9340	10	0.37606	T	0.19	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	1257	Q9UL36	ZN236_HUMAN	K	1257	ENSP00000253159:E1257K;ENSP00000444524:E1257K	ENSP00000253159:E1257K	E	+	1	0	ZNF236	72766246	1.000000	0.71417	0.996000	0.52242	0.832000	0.47134	9.451000	0.97610	2.450000	0.82876	0.650000	0.86243	GAG	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.537	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74637258	1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74637258	G	A	74637258	3	1	73	1	0	0	0	0	1	0	0	0	17819	1059	37	1	3855	1	ZNF236	18	74637258	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	26043847	74637258	3439990	99	10673										
SGTA	6449	genome.wustl.edu	37	chr19	2767201	2767201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggggttcgcgcggggctcctCaggtcctgcggcatctcctg	16	14	2	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:2767201C>T	ENST00000221566.2	-	4	386	c.225G>A	c.(223-225)ctG>ctA	p.L75L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	75					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCTCCTCAGGTCCTGCG	0.672																																																	0													58	52	54					19																	2767201		2198	4300	6498	SO:0001819	synonymous_variant	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.225G>A	19.37:g.2767201C>T			D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L75	ENST00000221566.2	37	c.225	CCDS12094.1	19																																																																																			SGTA	-	NULL		0.672	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	C	NM_003021		2767201	-1	no_errors	ENST00000221566	ensembl	human	known	70_37	silent	SNP	0.038	T	T	2767201	C	T	2767201	2	4	73	1	0	0	0	0	0	0	0	1	14255	813	29	1		1	SGTA	19	2767201	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09		2767201	56361782	100	10674										
EEF2	1938	genome.wustl.edu	37	chr19	3978083	3978083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccgcgccttcatgtacagccGgttgtgcttgttgggggact	14	11	1	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:3978083G>A	ENST00000309311.6	-	12	1889	c.1801C>T	c.(1801-1803)Cgg>Tgg	p.R601W		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	601					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTACAGCCGGTTGTGCTTG	0.622																																					Colon(165;1804 1908 4071 6587 18799)												0													35	28	30					19																	3978083		2198	4296	6494	SO:0001583	missense	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1801C>T	19.37:g.3978083G>A	ENSP00000307940:p.Arg601Trp		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R601W	ENST00000309311.6	37	c.1801	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214979	0.79352	.	.	ENSG00000167658	ENST00000309311	T	0.34667	1.35	5.61	1.83	0.25207	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	D	0.87543	0.2460	10	0.87932	D	0	-35.1711	15.0648	0.71986	0.0:0.0:0.5735:0.4264	.	601	P13639	EF2_HUMAN	W	601	ENSP00000307940:R601W	ENSP00000307940:R601W	R	-	1	2	EEF2	3929083	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.967000	0.49216	0.667000	0.31107	0.491000	0.48974	CGG	EEF2	-	superfamily_Ribosomal_S5_D2-typ_fold		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3978083	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3978083	G	A	3978083	3	1	73	1	0	0	0	0	1	0	0	0	4939	1115	39	2	791	2	EEF2	19	3978083	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	1210882	3978083	55150900	101	10675										
ZNF791	163049	genome.wustl.edu	37	chr19	12739121	12739121	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tcatttcccacacaagtgttCtaacacacatgataacacac	3	13	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:12739121C>G	ENST00000343325.4	+	4	940	c.778C>G	c.(778-780)Cta>Gta	p.L260V	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.L151V|ZNF791_ENST00000458122.3_Missense_Mutation_p.L228V|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CACAAGTGTTCTAACACACAT	0.388																																																	0													64	53	56					19																	12739121		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.778C>G	19.37:g.12739121C>G	ENSP00000342974:p.Leu260Val		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L260V	ENST00000343325.4	37	c.778	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	C	1.531	-0.544278	0.04024	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07327	3.2;3.2;3.2	1.83	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.05124	-0.11	0.09310	N	1	B	0.30068	0.267	B	0.35971	0.215	T	0.47983	-0.9074	9	0.24483	T	0.36	.	4.8431	0.13500	0.2298:0.5416:0.2285:0.0	.	260	Q3KP31	ZN791_HUMAN	V	260;242;228;151	ENSP00000342974:L260V;ENSP00000441761:L228V;ENSP00000441038:L151V	ENSP00000342974:L260V	L	+	1	2	ZNF791	12600121	0.001000	0.12720	0.113000	0.21522	0.964000	0.63967	0.469000	0.22067	0.053000	0.16036	0.491000	0.48974	CTA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	C	NM_153358		12739121	1	no_errors	ENST00000343325	ensembl	human	known	70_37	missense	SNP	0.000	G	G	12739121	C	G	12739121	3	3	73	1	0	0	0	0	1	0	0	0	18193	912	32	1	792	1	ZNF791	19	12739121	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	8761038	12739121	46389862	102	10676										
ATP4A	495	genome.wustl.edu	37	chr19	36045926	36045926	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggtgtcagctctgggatgttCttggtcaatgtgtaggcaat	14	6	4	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:36045926C>T	ENST00000262623.3	-	16	2407	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	793					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CTGGGATGTTCTTGGTCAATG	0.567																																																	0													322	244	270					19																	36045926		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2379G>A	19.37:g.36045926C>T			O00738	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.K793	ENST00000262623.3	37	c.2379	CCDS12467.1	19																																																																																			ATP4A	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.567	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	C	NM_000704		36045926	-1	no_errors	ENST00000262623	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36045926	C	T	36045926	2	4	73	1	0	0	0	0	0	0	0	1	1146	912	32	1		1	ATP4A	19	36045926	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	23306805	36045926	23083057	103	10677										
ZFP112	7771	genome.wustl.edu	37	chr19	44832470	44832470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gccttgaaggtgtgaactccGactgaagcccttcccacact	9	14	0	3			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:44832470G>A	ENST00000337401.4	-	5	1946	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	ZNF112_ENST00000354340.4_Missense_Mutation_p.R614W|ZNF112_ENST00000536500.1_Missense_Mutation_p.R637W	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	620					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.R614W(1)									TGTGAACTCCGACTGAAGCCC	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)											141	137	138					19																	44832470		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1858C>T	19.37:g.44832470G>A	ENSP00000337081:p.Arg620Trp		A4FU53|Q9HCA7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R637W	ENST00000337401.4	37	c.1909	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335464	0.60853	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.08008	3.14;5.4;3.14	5.0	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31370	N	0.007774	T	0.23886	0.0578	M	0.68593	2.085	0.30726	N	0.747708	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.993	T	0.05053	-1.0909	10	0.36615	T	0.2	-19.8544	11.9024	0.52690	0.0:0.0:0.6836:0.3164	.	619;637;620	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	W	620;620;614;637;619	ENSP00000337081:R620W;ENSP00000346305:R614W;ENSP00000441990:R637W	ENSP00000253426:R619W	R	-	1	2	ZNF285	49524310	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.202000	0.09451	1.217000	0.43442	-0.182000	0.12963	CGG	ZFP112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	G	NM_013380		44832470	-1	no_errors	ENST00000536500	ensembl	human	known	70_37	missense	SNP	0.999	A	A	44832470	G	A	44832470	3	1	73	1	0	0	0	0	1	0	0	0	17668	1057	37	1	887	1	ZFP112	19	44832470	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	8786544	44832470	14296513	104	10678										
RRBP1	6238	genome.wustl.edu	37	chr20	17606199	17606199	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tcgacggcctccctgagctcGatggcctccttctccagacc	9	18	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:17606199G>T	ENST00000377813.1	-	12	3315	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I	RRBP1_ENST00000246043.4_Silent_p.I1004I|RRBP1_ENST00000377807.2_Silent_p.I571I|RRBP1_ENST00000470422.1_5'Flank|RRBP1_ENST00000455029.2_Silent_p.I345I|RRBP1_ENST00000360807.4_Silent_p.I571I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1004					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCCTGAGCTCGATGGCCTCCT	0.652																																																	0													156	120	132					20																	17606199		2203	4300	6503	SO:0001819	synonymous_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3012C>A	20.37:g.17606199G>T			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.I1004	ENST00000377813.1	37	c.3012		20																																																																																			RRBP1	-	NULL		0.652	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17606199	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	silent	SNP	0.000	T	T	17606199	G	T	17606199	2	4	73	1	0	0	0	0	0	0	0	1	13708	1048	37	3		3	RRBP1	20	17606199	Silent	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		17606199	45419321	105	10679										
ITCH	83737	genome.wustl.edu	37	chr20	33077688	33077688	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcaaagacatgccatctaccGtcattatgcaaggaccagca	8	12	2	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:33077688G>C	ENST00000262650.6	+	23	2535	c.2399G>C	c.(2398-2400)cGt>cCt	p.R800P	ITCH_ENST00000535650.1_Missense_Mutation_p.R649P|ITCH_ENST00000374864.4_Missense_Mutation_p.R759P			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	800	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.R759H(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GCCATCTACCGTCATTATGCA	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											153	147	149					20																	33077688		2203	4300	6503	SO:0001583	missense	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2399G>C	20.37:g.33077688G>C	ENSP00000262650:p.Arg800Pro		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.R800P	ENST00000262650.6	37	c.2399	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	30	5.055489	0.93793	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.42513	0.97;0.97;0.97	5.72	5.72	0.89469	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.995;0.99;0.994	T	0.80979	-0.1140	10	0.87932	D	0	.	19.8252	0.96614	0.0:0.0:1.0:0.0	.	711;800;759	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	P	759;649;800	ENSP00000363998:R759P;ENSP00000445608:R649P;ENSP00000262650:R800P	ENSP00000262650:R800P	R	+	2	0	ITCH	32541349	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.789000	0.99068	2.859000	0.98148	0.591000	0.81541	CGT	ITCH	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.343	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	G			33077688	1	no_errors	ENST00000262650	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33077688	G	C	33077688	3	2	73	1	0	0	0	0	1	0	0	0	7888	1145	40	2	2354	2	ITCH	20	33077688	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	15471489	33077688	29947832	106	10680										
RBL1	5933	genome.wustl.edu	37	chr20	35717489	35717489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aatgcttttgcggcatgcaaCatataatgaacatgccaacc	7	10	0	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:35717489C>T	ENST00000373664.3	-	2	259	c.193G>A	c.(193-195)Gtt>Att	p.V65I	RBL1_ENST00000344359.3_Missense_Mutation_p.V65I	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	65					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CGGCATGCAACATATAATGAA	0.378																																																	0													99	85	90					20																	35717489		2203	4300	6503	SO:0001583	missense	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.193G>A	20.37:g.35717489C>T	ENSP00000362768:p.Val65Ile		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.V65I	ENST00000373664.3	37	c.193	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.275391	0.95459	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93906	-3.08;-3.31	5.22	5.22	0.72569	.	0.268167	0.36628	N	0.002489	D	0.94621	0.8266	L	0.59436	1.845	0.34845	D	0.741118	P;D	0.54964	0.897;0.969	B;P	0.55011	0.44;0.766	D	0.95476	0.8556	10	0.33940	T	0.23	-4.6466	18.5708	0.91135	0.0:1.0:0.0:0.0	.	65;65	P28749-2;P28749	.;RBL1_HUMAN	I	65	ENSP00000362768:V65I;ENSP00000343646:V65I	ENSP00000343646:V65I	V	-	1	0	RBL1	35150903	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	4.051000	0.57412	2.716000	0.92895	0.655000	0.94253	GTT	RBL1	-	NULL		0.378	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	C	NM_002895		35717489	-1	no_errors	ENST00000373664	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35717489	C	T	35717489	3	4	73	1	0	0	0	0	1	0	0	0	13139	478	17	4	3106	4	RBL1	20	35717489	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	2639801	35717489	27308031	107	10681										
PRIC285	85441	genome.wustl.edu	37	chr20	62191301	62191301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cgatcaggcagagcccctccTgggcccgcgtgacagccaca	12	17	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:62191301T>C	ENST00000467148.1	-	18	7874	c.7805A>G	c.(7804-7806)cAg>cGg	p.Q2602R	HELZ2_ENST00000427522.2_Missense_Mutation_p.Q2033R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2602	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAGCCCCTCCTGGGCCCGCGT	0.652																																																	0													53	54	54					20																	62191301		2203	4300	6503	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7805A>G	20.37:g.62191301T>C	ENSP00000417401:p.Gln2602Arg		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.Q2602R	ENST00000467148.1	37	c.7805	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283296	0.40394	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.91740	-2.9;-2.9	3.81	2.7	0.31948	.	0.353175	0.26673	N	0.023092	T	0.81206	0.4774	N	0.05608	-0.01	0.39110	D	0.961463	B;B	0.13594	0.008;0.007	B;B	0.23150	0.044;0.026	T	0.70930	-0.4738	10	0.36615	T	0.2	-17.9337	7.4977	0.27498	0.0:0.1016:0.0:0.8984	.	2602;2033	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	2033;2602	ENSP00000393257:Q2033R;ENSP00000417401:Q2602R	ENSP00000393257:Q2033R	Q	-	2	0	RP4-697K14.7	61661745	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.291000	0.51764	0.383000	0.24910	0.379000	0.24179	CAG	HELZ2	-	NULL		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	T	NM_001037335		62191301	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62191301	T	C	62191301	3	2	73	1	0	0	0	0	1	0	0	0	12512	1580	55	5	152	5	PRIC285	20	62191301	Missense_Mutation	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	26473812	62191301	834219	108	10682										
PWP2	5822	genome.wustl.edu	37	chr21	45539369	45539369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ccctggcctactcgcccgacGgacagtacatcgtgactggc	11	16	0	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr21:45539369G>A	ENST00000291576.7	+	10	1280	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	385					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTCGCCCGACGGACAGTACAT	0.647																																																	0													34	22	26					21																	45539369		2193	4288	6481	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1153G>A	21.37:g.45539369G>A	ENSP00000291576:p.Gly385Arg		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G385R	ENST00000291576.7	37	c.1153	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823533	0.71143	.	.	ENSG00000241945	ENST00000291576	T	0.11169	2.8	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43653	-0.9378	10	0.87932	D	0	-14.5679	16.8446	0.85977	0.0:0.0:1.0:0.0	.	385	Q15269	PWP2_HUMAN	R	385	ENSP00000291576:G385R	ENSP00000291576:G385R	G	+	1	0	PWP2	44363797	1.000000	0.71417	0.999000	0.59377	0.264000	0.26372	8.657000	0.91106	2.586000	0.87340	0.561000	0.74099	GGA	PWP2	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.647	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	G	NM_005049		45539369	1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45539369	G	A	45539369	3	1	73	1	0	0	0	0	1	0	0	0	12874	1117	39	2	1191	2	PWP2	21	45539369	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		45539369	2590526	109	10683										
CLTCL1	8218	genome.wustl.edu	37	chr22	19213066	19213066	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggccacctgcacacacagctGaaggttctgtctgatgttag	11	11	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr22:19213066G>A	ENST00000263200.10	-	13	2110	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.Q680*|CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.Q680*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	680	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACACACAGCTGAAGGTTCTGT	0.512			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													43	46	45					22																	19213066		2077	4230	6307	SO:0001587	stop_gained	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2038C>T	22.37:g.19213066G>A	ENSP00000445677:p.Gln680*		B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.Q680*	ENST00000263200.10	37	c.2038	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	40	8.261069	0.98732	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	4.0	2.93	0.34026	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-11.0143	13.2529	0.60062	0.0:0.0:0.8283:0.1717	.	.	.	.	X	680	.	ENSP00000445677:Q680X	Q	-	1	0	CLTCL1	17593066	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	5.692000	0.68256	0.937000	0.37394	0.655000	0.94253	CAG	CLTCL1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.512	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	G	NM_007098		19213066	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	19213066	G	A	19213066	4	1	73	1	0	0	0	0	0	1	0	0	3572	1299	45	1	2964	1	CLTCL1	22	19213066	Nonsense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09		19213066	32091500	110	10684										
MAPK1	5594	genome.wustl.edu	37	chr22	22160227	22160227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aatggatatattttaaccctCtgaggatctggtagagaaaa	9	5	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr22:22160227C>T	ENST00000215832.6	-	3	592	c.404G>A	c.(403-405)aGa>aAa	p.R135K	MAPK1_ENST00000398822.3_Missense_Mutation_p.R135K|MAPK1_ENST00000544786.1_Missense_Mutation_p.R135K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TTTTAACCCTCTGAGGATCTG	0.448																																																	0													203	187	193					22																	22160227		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.404G>A	22.37:g.22160227C>T	ENSP00000215832:p.Arg135Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.R135K	ENST00000215832.6	37	c.404	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.599358	0.96614	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.64991	-0.13;-0.13;-0.13	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	N	0.16602	0.42	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.80764	0.95;0.994	T	0.73594	-0.3933	10	0.87932	D	0	-2.875	18.343	0.90312	0.0:1.0:0.0:0.0	.	135;135	A8CZ64;P28482	.;MK01_HUMAN	K	135;123;135;135	ENSP00000215832:R135K;ENSP00000381803:R135K;ENSP00000440842:R135K	ENSP00000215832:R135K	R	-	2	0	MAPK1	20490227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.563000	0.82314	2.637000	0.89404	0.650000	0.86243	AGA	MAPK1	-	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		0.448	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22160227	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22160227	C	T	22160227	3	4	73	1	0	0	0	0	1	0	0	0	9294	913	32	1	702	1	MAPK1	22	22160227	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	2947161	22160227	29144339	111	10685										
GRPR	2925	genome.wustl.edu	37	chrX	16170721	16170721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gtaccaacccctccgtggccAcctttagcctcatcaatgga	7	16	2	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:16170721A>G	ENST00000380289.2	+	3	1506	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	370					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCGTGGCCACCTTTAGCCT	0.537																																																	0													166	153	158					X																	16170721		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1108A>G	X.37:g.16170721A>G	ENSP00000369643:p.Thr370Ala		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T370A	ENST00000380289.2	37	c.1108	CCDS14174.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.671470|2.671470	0.47781|0.47781	.|.	.|.	ENSG00000126010|ENSG00000126010	ENST00000535371|ENST00000380289	.|T	.|0.64803	.|-0.12	5.62|5.62	4.43|4.43	0.53597|0.53597	.|.	.|0.275542	.|0.34291	.|N	.|0.004096	T|T	0.57257|0.57257	0.2041|0.2041	M|M	0.65498|0.65498	2.005|2.005	0.33744|0.33744	D|D	0.619852|0.619852	.|B	.|0.15141	.|0.012	.|B	.|0.12837	.|0.008	T|T	0.60234|0.60234	-0.7303|-0.7303	6|10	0.36615|0.25751	T|T	0.2|0.34	-29.8486|-29.8486	10.1257|10.1257	0.42648|0.42648	0.9205:0.0:0.0795:0.0|0.9205:0.0:0.0795:0.0	.|.	.|370	.|P30550	.|GRPR_HUMAN	R|A	158|370	.|ENSP00000369643:T370A	ENSP00000442239:H158R|ENSP00000369643:T370A	H|T	+|+	2|1	0|0	GRPR|GRPR	16080642|16080642	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	4.080000|4.080000	0.57620|0.57620	0.740000|0.740000	0.32651|0.32651	0.486000|0.486000	0.48141|0.48141	CAC|ACC	GRPR	-	prints_Gastrin_pep_rcpt		0.537	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	A	NM_005314		16170721	1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16170721	A	G	16170721	3	3	73	1	0	0	0	0	1	0	0	0	6828	159	6	5	1118	5	GRPR	23	16170721	Missense_Mutation	SNP	A	TCGA-EA-A3HT-01A-61D-A21Q-09		16170721	139099839	112	10686										
NDUFB11	54539	genome.wustl.edu	37	chrX	47001822	47001822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	caagcctctcagcttcgcggCgggaccactctttcatcctg	9	16	3	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:47001822C>T	ENST00000377811.3	-	3	1180	c.356G>A	c.(355-357)cGc>cAc	p.R119H	NDUFB11_ENST00000276062.8_Missense_Mutation_p.R129H|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000377604.3_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	119					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGCTTCGCGGCGGGACCACTC	0.547																																					Ovarian(77;454 1296 7908 21551 37072)												0													87	67	74					X																	47001822		2203	4300	6503	SO:0001583	missense	54539			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"Mitochondrial respiratory chain complex / Complex I"	20372	protein-coding gene	gene with protein product	"complex I NP17.3 subunit"	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.356G>A	X.37:g.47001822C>T	ENSP00000367042:p.Arg119His		Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ESSS_su	p.R129H	ENST00000377811.3	37	c.386	CCDS48100.1	X	.	.	.	.	.	.	.	.	.	.	c	14.36	2.513185	0.44660	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.07	4.07	0.47477	.	0.126528	0.51477	D	0.000099	T	0.50905	0.1643	M	0.67953	2.075	0.42842	D	0.994053	P;P	0.35821	0.518;0.523	B;B	0.29524	0.076;0.103	T	0.59658	-0.7413	9	0.59425	D	0.04	-3.1044	10.6963	0.45901	0.0:1.0:0.0:0.0	.	119;129	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	H	119;123;129	.	ENSP00000276062:R129H	R	-	2	0	NDUFB11	46886766	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.140000	0.64807	2.286000	0.76751	0.523000	0.50628	CGC	NDUFB11	-	pfam_NADH_UbQ_OxRdtase_ESSS_su		0.547	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB11	HGNC	protein_coding	OTTHUMT00000056382.1	C	NM_019056		47001822	-1	no_errors	ENST00000276062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47001822	C	T	47001822	3	4	73	1	0	0	0	0	1	0	0	0	10304	768	27	2	109	2	NDUFB11	23	47001822	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	30831101	47001822	108268738	113	10687										
ITIH5L	347365	genome.wustl.edu	37	chrX	54823504	54823504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	agcgagacaccaccgtggagCgcatagaatagcttgtcatt	11	10	1	2	rs141798202	byFrequency	TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:54823504C>T	ENST00000218436.6	-	2	157	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	43	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CACCGTGGAGCGCATAGAATA	0.502																																																	0								C	HIS/ARG	0,3835		0,0,0,1632,571	125	96	106		128	-3.2	0	X	dbSNP_134	106	5,6723		0,2,3,2426,1869	yes	missense	ITIH5L	NM_198510.2	29	0,2,3,4058,2440	TT,TC,T,CC,C		0.0743,0.0,0.0473	benign	43/1314	54823504	5,10558	2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.128G>A	X.37:g.54823504C>T	ENSP00000218436:p.Arg43His		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R43H	ENST00000218436.6	37	c.128	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273231	0.23221	0.0	7.43E-4	ENSG00000102313	ENST00000218436	T	0.22539	1.95	4.39	-3.15	0.05233	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.435830	0.19010	N	0.125111	T	0.08492	0.0211	N	0.11201	0.11	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.21621	-1.0240	10	0.28530	T	0.3	.	7.5571	0.27831	0.1062:0.4067:0.0:0.4871	.	43	Q6UXX5	ITH5L_HUMAN	H	43	ENSP00000218436:R43H	ENSP00000218436:R43H	R	-	2	0	ITIH5L	54840229	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.734000	0.04893	-1.198000	0.02669	-1.266000	0.01441	CGC	ITIH6	-	pfam_VIT,smart_VIT		0.502	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	C	NM_198510		54823504	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54823504	C	T	54823504	3	4	73	1	0	0	0	0	1	0	0	0	7928	768	27	2	3861	2	ITIH5L	23	54823504	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	7821682	54823504	100447056	114	10688										
ATP7A	538	genome.wustl.edu	37	chrX	77264738	77264738	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	cccagaaattattggtcctaGagatattatccatacaattg	6	8	0	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:77264738G>A	ENST00000341514.6	+	7	2002	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	ATP7A_ENST00000343533.5_Missense_Mutation_p.R616K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	616	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTGGTCCTAGAGATATTATC	0.393																																																	0													160	164	162					X																	77264738		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1847G>A	X.37:g.77264738G>A	ENSP00000345728:p.Arg616Lys		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.R616K	ENST00000341514.6	37	c.1847	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.275121	0.95459	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86865	-2.18;-2.18	5.1	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	D	0.000000	D	0.91526	0.7324	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.999;0.969	D;P	0.83275	0.996;0.888	D	0.92619	0.6106	10	0.87932	D	0	-0.9605	17.8115	0.88617	0.0:0.0:1.0:0.0	.	616;626	Q04656;Q59HD1	ATP7A_HUMAN;.	K	616;616;626	ENSP00000343026:R616K;ENSP00000345728:R616K	ENSP00000345728:R616K	R	+	2	0	ATP7A	77151394	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.420000	0.97426	2.138000	0.66242	0.462000	0.41574	AGA	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	G	NM_000052		77264738	1	no_errors	ENST00000341514	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77264738	G	A	77264738	3	1	73	1	0	0	0	0	1	0	0	0	1191	942	33	1	1869	1	ATP7A	23	77264738	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	22441234	77264738	78005822	115	10689										
SYTL4	94121	genome.wustl.edu	37	chrX	99931137	99931137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ggctcacttcttccccagtcGagtccatccagtccaccact	6	18	2	0			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:99931137G>A	ENST00000372989.1	-	19	2235	c.1904C>T	c.(1903-1905)tCg>tTg	p.S635L	SYTL4_ENST00000455616.1_Missense_Mutation_p.S635L|SYTL4_ENST00000263033.5_Missense_Mutation_p.S635L|RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000276141.6_Missense_Mutation_p.S635L|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.S637L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	635					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCCCCAGTCGAGTCCATCCA	0.577													G|||	1	0.000264901	0	0	3775	,	,		12358	0.001		0	False		,,,				2504	0																0													126	95	105					X																	99931137		2203	4300	6503	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1904C>T	X.37:g.99931137G>A	ENSP00000362080:p.Ser635Leu		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.S637L	ENST00000372989.1	37	c.1910	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.366539	0.95900	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87208	0.2245	9	.	.	.	-8.1968	19.0061	0.92851	0.0:0.0:1.0:0.0	.	635	Q96C24	SYTL4_HUMAN	L	635;635;637;635;635	ENSP00000362080:S635L;ENSP00000390252:S635L;ENSP00000403556:S637L;ENSP00000276141:S635L;ENSP00000263033:S635L	.	S	-	2	0	SYTL4	99817793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.437000	0.82529	0.538000	0.68166	TCG	SYTL4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.577	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	G	NM_080737		99931137	-1	no_errors	ENST00000454200	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99931137	G	A	99931137	3	1	73	1	0	0	0	0	1	0	0	0	15515	1059	37	1	115	1	SYTL4	23	99931137	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	22666399	99931137	55339423	116	10690										
NXF5	55998	genome.wustl.edu	37	chrX	101095805	101095805	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	ttgactttgggagccttctcTgtaatgtcagaaaggccatc	10	9	2	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:101095805T>C	ENST00000361708.2	-	9	902	c.543A>G	c.(541-543)acA>acG	p.T181T	NXF5_ENST00000473265.2_Silent_p.T181T|NXF5_ENST00000537026.1_Silent_p.T181T			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	181					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GAGCCTTCTCTGTAATGTCAG	0.473																																																	0													63	55	58					X																	101095805		2202	4297	6499	SO:0001819	synonymous_variant	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.543A>G	X.37:g.101095805T>C			A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Splice_Site	SNP	-	e7-2	ENST00000361708.2	37	c.481-2		X																																																																																			NXF5	-	-		0.473	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		T			101095805	-1	no_errors	ENST00000493509	ensembl	human	known	70_37	splice_site	SNP	0.522	C	C	101095805	T	C	101095805	2	2	73	1	0	0	0	0	0	0	0	1	10810	1567	55	5		5	NXF5	23	101095805	Silent	SNP	T	TCGA-EA-A3HT-01A-61D-A21Q-09	1164668	101095805	54174755	117	10691										
IGSF1	3547	genome.wustl.edu	37	chrX	130411002	130411002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	aattccctccatcaccaatgCccaccgaaatgattagaaag	5	13	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:130411002C>A	ENST00000361420.3	-	14	2598	c.2519G>T	c.(2518-2520)gGc>gTc	p.G840V	IGSF1_ENST00000370903.3_Missense_Mutation_p.G845V|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Missense_Mutation_p.G831V|IGSF1_ENST00000370904.1_Missense_Mutation_p.G831V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	840	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATCACCAATGCCCACCGAAAT	0.507																																																	0													177	182	180					X																	130411002		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2519G>T	X.37:g.130411002C>A	ENSP00000355010:p.Gly840Val		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G845V	ENST00000361420.3	37	c.2534	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440258	0.43326	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.39	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413669	0.23063	N	0.052343	T	0.26521	0.0648	L	0.42686	1.345	0.53688	D	0.999977	P;D;D	0.89917	0.952;0.99;1.0	P;D;D	0.91635	0.748;0.952;0.999	T	0.00536	-1.1683	10	0.56958	D	0.05	.	9.4229	0.38561	0.0:0.8944:0.0:0.1056	.	831;284;840	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	831;840;831;845	ENSP00000359947:G831V;ENSP00000355010:G840V;ENSP00000359941:G831V;ENSP00000359940:G845V	ENSP00000355010:G840V	G	-	2	0	IGSF1	130238683	0.043000	0.20138	0.995000	0.50966	0.598000	0.36846	1.607000	0.36836	2.393000	0.81446	0.600000	0.82982	GGC	IGSF1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	C			130411002	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	missense	SNP	0.812	A	A	130411002	C	A	130411002	3	1	73	1	0	0	0	0	1	0	0	0	7616	739	26	4	1519	4	IGSF1	23	130411002	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	29315197	130411002	24859558	118	10692										
NSDHL	50814	genome.wustl.edu	37	chrX	152034375	152034375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tcctccaggcagttctgggcGccaacgatcctgagaagaat	11	12	1	2			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:152034375G>A	ENST00000370274.3	+	6	750	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	186					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTGGGCGCCAACGATCC	0.582																																																	0													102	94	96					X																	152034375		2203	4300	6503	SO:0001583	missense	50814			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.556G>A	X.37:g.152034375G>A	ENSP00000359297:p.Ala186Thr		D3DWT6|O00344	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.A186T	ENST00000370274.3	37	c.556	CCDS14717.1	X	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034511	0.54896	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.89196	-2.48;-2.48;-2.48	5.78	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.91972	3.26	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	D	0.93785	0.7087	10	0.59425	D	0.04	0.0387	10.0707	0.42330	0.0:0.1457:0.6996:0.1547	.	186	Q15738	NSDHL_HUMAN	T	186	ENSP00000359297:A186T;ENSP00000391854:A186T;ENSP00000396266:A186T	ENSP00000359297:A186T	A	+	1	0	NSDHL	151785031	1.000000	0.71417	0.060000	0.19600	0.126000	0.20510	7.817000	0.86213	0.571000	0.29365	0.529000	0.55759	GCC	NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd		0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	G	NM_015922		152034375	1	no_errors	ENST00000370274	ensembl	human	known	70_37	missense	SNP	0.983	A	A	152034375	G	A	152034375	3	1	73	1	0	0	0	0	1	0	0	0	10694	1087	38	2	574	2	NSDHL	23	152034375	Missense_Mutation	SNP	G	TCGA-EA-A3HT-01A-61D-A21Q-09	21623373	152034375	3236185	119	10693										
TREX2	11219	genome.wustl.edu	37	chrX	152710753	152710753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	tactagggcaccagactcgtCgtgctccgggttctccaggg	13	13	1	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:152710753C>T	ENST00000334497.2	-	11	1406	c.265G>A	c.(265-267)Gac>Aac	p.D89N	HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000402951.1_Missense_Mutation_p.D89N|TREX2_ENST00000414588.1_Missense_Mutation_p.D88N|TREX2_ENST00000330912.2_Missense_Mutation_p.D46N|TREX2_ENST00000370232.1_Missense_Mutation_p.D89N|TREX2_ENST00000370231.2_Missense_Mutation_p.D46N|TREX2_ENST00000338525.2_Missense_Mutation_p.D46N|TREX2_ENST00000393862.2_Missense_Mutation_p.D46N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	89					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACTCGTCGTGCTCCGGG	0.657								Editing and processing nucleases					C|||	1	0.000264901	8e-04	0	3775	,	,		11613	0		0	False		,,,				2504	0																0													39	41	41					X																	152710753		2203	4299	6502	SO:0001583	missense	11219			AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.265G>A	X.37:g.152710753C>T	ENSP00000334993:p.Asp89Asn		Q45F08|Q9UN77	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.D89N	ENST00000334497.2	37	c.265		X	.	.	.	.	.	.	.	.	.	.	C	3.215	-0.160732	0.06502	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.04	4.18	0.49190	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.49305	U	0.000159	T	0.21962	0.0529	N	0.12746	0.255	0.09310	N	1	B;B	0.27380	0.038;0.177	B;B	0.15870	0.007;0.014	T	0.12243	-1.0555	10	0.24483	T	0.36	-7.3428	10.2962	0.43625	0.0:0.9006:0.0:0.0994	.	88;89	Q06S70;Q9BQ50	.;TREX2_HUMAN	N	46;46;46;89;89;89;88;46	ENSP00000377442:D46N;ENSP00000333441:D46N;ENSP00000345218:D46N;ENSP00000334993:D89N;ENSP00000359252:D89N;ENSP00000386078:D89N;ENSP00000401692:D88N;ENSP00000359251:D46N	ENSP00000333441:D46N	D	-	1	0	TREX2	152363947	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.451000	0.21779	0.915000	0.36847	0.529000	0.55759	GAC	TREX2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	TREX2	HGNC	protein_coding	OTTHUMT00000060966.1	C	NM_080701		152710753	-1	no_errors	ENST00000334497	ensembl	human	known	70_37	missense	SNP	0.008	T	T	152710753	C	T	152710753	3	4	73	1	0	0	0	0	1	0	0	0	16508	884	31	1	577	1	TREX2	23	152710753	Missense_Mutation	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	676378	152710753	2559807	120	10694										
SSR4	6748	genome.wustl.edu	37	chrX	153061914	153061914	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.371900826446281	45	1.96911460340124e-12	3.10438654353562	3.31134564643799	3.07482095740671	2.55896143130075e-12	1.24109629418086e-10	31	gcctgcctggagccccagatCaccccttcctactacaccac	6	20	1	1			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:153061914C>T	ENST00000320857.3	+	3	1177	c.93C>T	c.(91-93)atC>atT	p.I31I	IDH3G_ENST00000370093.1_5'Flank|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000427365.2_5'Flank|SSR4_ENST00000370087.1_Silent_p.I31I|SSR4_ENST00000370085.3_Silent_p.I31I|IDH3G_ENST00000370092.3_5'Flank|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Silent_p.I31I|IDH3G_ENST00000217901.5_5'Flank	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGATCACCCCTTCCT	0.607																																																	0													142	101	115					X																	153061914		2203	4300	6503	SO:0001819	synonymous_variant	6748			BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"translocon-associated protein delta"	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.93C>T	X.37:g.153061914C>T			A8K378|Q53XY1	Silent	SNP	pfam_TRAP-delta	p.I31	ENST00000320857.3	37	c.93	CCDS14731.1	X																																																																																			SSR4	-	pfam_TRAP-delta		0.607	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR4	HGNC	protein_coding	OTTHUMT00000061029.1	C	NM_006280		153061914	1	no_errors	ENST00000320857	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153061914	C	T	153061914	2	4	73	1	0	0	0	0	0	0	0	1	15223	816	29	1		1	SSR4	23	153061914	Silent	SNP	C	TCGA-EA-A3HT-01A-61D-A21Q-09	351161	153061914	2208646	121	10695										
TAS1R3	83756	genome.wustl.edu	37	chr1	1267287	1267287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagctcgccatggtcaccgGcaagttcttcagcttcttcc	9	14	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1267287G>A	ENST00000339381.5	+	2	493	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	154					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		ATGGTCACCGGCAAGTTCTTC	0.672																																																	0													40	45	44					1																	1267287		2200	4295	6495	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.461G>A	1.37:g.1267287G>A	ENSP00000344411:p.Gly154Asp		Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.G154D	ENST00000339381.5	37	c.461	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862379	0.51482	.	.	ENSG00000169962	ENST00000339381	D	0.83075	-1.68	4.57	4.57	0.56435	Extracellular ligand-binding receptor (1);	0.195536	0.43747	D	0.000523	D	0.90383	0.6990	M	0.80847	2.515	0.43947	D	0.996614	D	0.71674	0.998	D	0.70935	0.971	D	0.91742	0.5405	10	0.87932	D	0	.	13.5297	0.61615	0.0:0.2081:0.7919:0.0	.	154	Q7RTX0	TS1R3_HUMAN	D	154	ENSP00000344411:G154D	ENSP00000344411:G154D	G	+	2	0	TAS1R3	1257150	1.000000	0.71417	0.936000	0.37596	0.013000	0.08279	4.468000	0.60162	2.097000	0.63578	0.561000	0.74099	GGC	TAS1R3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	G			1267287	1	no_errors	ENST00000339381	ensembl	human	known	70_37	missense	SNP	0.992	A	A	1267287	G	A	1267287	3	1	74	1	0	0	0	0	1	0	0	0	15594	1203	42	4	467	4	TAS1R3	1	1267287	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09		1267287	247983334	1	10696										
CDK11A	728642	genome.wustl.edu	37	chr1	1636376	1636376	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgttgggatgctgggccttGaggatggtgttgatctccct	15	7	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1636376G>C	ENST00000378633.1	-	13	1513	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	CDK11A_ENST00000404249.3_Silent_p.L475L|CDK11A_ENST00000356200.3_Silent_p.L441L|CDK11A_ENST00000357760.2_Silent_p.L474L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000358779.5_Silent_p.L465L|CDK11A_ENST00000378638.2_Silent_p.L441L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	478	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCTGGGCCTTGAGGATGGTGT	0.572																																					Pancreas(186;965 2119 30274 40311 50569)												0													168	251	224					1																	1636376		1974	4181	6155	SO:0001819	synonymous_variant	728642			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1434C>G	1.37:g.1636376G>C			O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L475	ENST00000378633.1	37	c.1425		1																																																																																			CDK11A	-	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		0.572	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	G	NM_024011		1636376	-1	no_errors	ENST00000404249	ensembl	human	known	70_37	silent	SNP	0.961	C	C	1636376	G	C	1636376	2	2	74	1	0	0	0	0	0	0	0	1	3131	1277	45	1		1	CDK11A	1	1636376	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	369089	1636376	247614245	2	10697										
NADK	65220	genome.wustl.edu	37	chr1	1693443	1693443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctttggtccaaaagtggtcaCcgggcatggcccatgaagag	13	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1693443C>T	ENST00000341426.5	-	3	432	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	NADK_ENST00000344463.4_Missense_Mutation_p.V71M|NADK_ENST00000341991.3_Missense_Mutation_p.V71M|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000378625.1_Missense_Mutation_p.V71M	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	71					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		AAAGTGGTCACCGGGCATGGC	0.602																																																	0													92	82	85					1																	1693443		2203	4300	6503	SO:0001583	missense	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.211G>A	1.37:g.1693443C>T	ENSP00000341679:p.Val71Met		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.V71M	ENST00000341426.5	37	c.211	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578279	0.86645	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463	T;T;T;T	0.58060	0.7;0.7;0.36;0.36	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.70595	2.14	0.80722	D	1	D;P	0.64830	0.994;0.638	P;B	0.60609	0.877;0.23	T	0.70342	-0.4898	10	0.45353	T	0.12	-31.3895	15.6396	0.76984	0.0:0.862:0.138:0.0	.	71;71	Q5QPS4;O95544	.;NADK_HUMAN	M	71	ENSP00000341679:V71M;ENSP00000344340:V71M;ENSP00000367890:V71M;ENSP00000340925:V71M	ENSP00000341679:V71M	V	-	1	0	NADK	1683303	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	5.289000	0.65656	1.455000	0.47813	0.561000	0.74099	GTG	NADK	-	NULL		0.602	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	C	NM_023018		1693443	-1	no_errors	ENST00000344463	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1693443	C	T	1693443	3	4	74	1	0	0	0	0	1	0	0	0	10160	507	18	4	1169	4	NADK	1	1693443	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	57067	1693443	247557178	3	10698										
KIAA1751	85452	genome.wustl.edu	37	chr1	1903506	1903506	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cactccatctcctccttcttCtcttgctctcggattctgag	5	16	5	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1903506C>T								TMEM52 (52794 upstream) : C1orf222 (16056 downstream)																							CCTCCTTCTTCTCTTGCTCTC	0.587																																																	0													98	108	105					1																	1903506		2149	4257	6406	SO:0001628	intergenic_variant	85452																															1.37:g.1903506C>T				Silent	SNP	NULL	p.E267		37	c.801		1																																																																																			C1orf222	-	NULL	0	0.587					C1orf222	HGNC			C			1903506	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	silent	SNP	0.270	T	T	1903506	C	T	1903506	1	4	74	0	1	0	0	0	0	0	0	0	8276	912	32	1		1	KIAA1751	1	1903506	IGR	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	210063	1903506	247347115	4	10699										
ARHGEF16	27237	genome.wustl.edu	37	chr1	3389974	3389974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagaagcagcaacgccgcctTccgagaggccctgagagaga	13	13	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:3389974T>C	ENST00000378378.4	+	8	1598	c.1193T>C	c.(1192-1194)tTc>tCc	p.F398S	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.F110S|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.F110S|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.F102S	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	398	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AACGCCGCCTTCCGAGAGGCC	0.652																																																	0													38	51	46					1																	3389974		2202	4300	6502	SO:0001583	missense	27237			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1193T>C	1.37:g.3389974T>C	ENSP00000367629:p.Phe398Ser		Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F398S	ENST00000378378.4	37	c.1193	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142408	0.57044	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.18	4.18	0.49190	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89460	0.3736	10	0.87932	D	0	-44.7357	13.3678	0.60696	0.0:0.0:0.0:1.0	.	102;102;398	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	S	398;110;110;110;102;102	ENSP00000367629:F398S;ENSP00000367624:F110S;ENSP00000367622:F110S;ENSP00000411936:F110S;ENSP00000390853:F102S;ENSP00000408887:F102S	ENSP00000367622:F110S	F	+	2	0	ARHGEF16	3379834	1.000000	0.71417	0.941000	0.38009	0.247000	0.25773	7.382000	0.79729	1.754000	0.51921	0.397000	0.26171	TTC	ARHGEF16	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.652	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	T	NM_014448		3389974	1	no_errors	ENST00000378378	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3389974	T	C	3389974	3	2	74	1	0	0	0	0	1	0	0	0	899	1783	62	5	1219	5	ARHGEF16	1	3389974	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1486468	3389974	245860647	5	10700										
KCNAB2	8514	genome.wustl.edu	37	chr1	6101914	6101914	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcggtatgggagtcccaaaaGacagctccagttttacaggt	11	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:6101914G>C	ENST00000164247.1	+	3	665	c.101G>C	c.(100-102)aGa>aCa	p.R34T	KCNAB2_ENST00000378097.1_Missense_Mutation_p.R34T|KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R34T|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R34T|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R34T|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R34T|AL035406.1_ENST00000594544.1_5'Flank	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	34					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCCCAAAAGACAGCTCCAG	0.532											OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													98	99	99					1																	6101914		2203	4300	6503	SO:0001583	missense	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.101G>C	1.37:g.6101914G>C	ENSP00000164247:p.Arg34Thr	631	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.R34T	ENST00000164247.1	37	c.101	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713819	0.30413	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000445501;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000164247	T;T;T;T;T;T	0.48836	0.81;3.56;3.14;0.8;3.56;3.56	4.84	4.84	0.62591	.	.	.	.	.	T	0.29223	0.0727	N	0.08118	0	0.80722	D	1	B;B	0.16166	0.0;0.016	B;B	0.20184	0.001;0.028	T	0.09952	-1.0651	9	0.14252	T	0.57	.	16.9375	0.86207	0.0:0.0:1.0:0.0	.	34;34	Q13303;Q2YD85	KCAB2_HUMAN;.	T	34	ENSP00000367351:R34T;ENSP00000367337:R34T;ENSP00000374283:R34T;ENSP00000367327:R34T;ENSP00000340824:R34T;ENSP00000164247:R34T	ENSP00000164247:R34T	R	+	2	0	KCNAB2	6024501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.171000	0.89675	2.249000	0.74217	0.467000	0.42956	AGA	KCNAB2	-	prints_K_chnl_volt-dep_bsu_KCNAB2		0.532	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	G	NM_172130		6101914	1	no_errors	ENST00000164247	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6101914	G	C	6101914	3	2	74	1	0	0	0	0	1	0	0	0	8030	942	33	1	107	1	KCNAB2	1	6101914	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2711940	6101914	243148707	6	10701										
NOL9	79707	genome.wustl.edu	37	chr1	6586036	6586036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaattgtaatccgttgtgaCataaggtactgtcccttcga	8	8	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:6586036C>T	ENST00000377705.5	-	12	2019	c.1987G>A	c.(1987-1989)Gtc>Atc	p.V663I		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	663					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTTGTGACATAAGGTACT	0.468																																																	0													131	126	128					1																	6586036		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1987G>A	1.37:g.6586036C>T	ENSP00000366934:p.Val663Ile		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.V663I	ENST00000377705.5	37	c.1987	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964465	0.18583	.	.	ENSG00000162408	ENST00000377705	T	0.24350	1.86	5.29	-1.4	0.08968	.	0.325856	0.28067	N	0.016740	T	0.10895	0.0266	N	0.19112	0.55	0.27361	N	0.955972	B	0.17465	0.022	B	0.12156	0.007	T	0.29150	-1.0021	10	0.13470	T	0.59	-13.8617	5.1166	0.14838	0.0:0.4366:0.1435:0.4199	.	663	Q5SY16	NOL9_HUMAN	I	663	ENSP00000366934:V663I	ENSP00000366934:V663I	V	-	1	0	NOL9	6508623	0.001000	0.12720	0.152000	0.22495	0.448000	0.32197	-0.613000	0.05610	-0.217000	0.10033	0.655000	0.94253	GTC	NOL9	-	NULL		0.468	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	C	NM_024654		6586036	-1	no_errors	ENST00000377705	ensembl	human	known	70_37	missense	SNP	0.455	T	T	6586036	C	T	6586036	3	4	74	1	0	0	0	0	1	0	0	0	10552	478	17	4	125	4	NOL9	1	6586036	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	484122	6586036	242664585	7	10702										
EXOSC10	5394	genome.wustl.edu	37	chr1	11141202	11141202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcaccggctgcccgttgccGcgctcccacatctccagcct	9	20	1	0	rs371318008		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:11141202G>A	ENST00000376936.4	-	11	1423	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R	EXOSC10_ENST00000304457.7_Silent_p.R458R|EXOSC10_ENST00000544779.1_Silent_p.R458R|EXOSC10_ENST00000485606.1_5'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	458					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCCCGTTGCCGCGCTCCCACA	0.592																																					Colon(179;105 1987 14326 27364 29542)												0								G	,	1,4405	2.1+/-5.4	0,1,2202	57	55	55		1374,1374	-9.2	0.5	1		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EXOSC10	NM_001001998.1,NM_002685.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	458/886,458/861	11141202	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1374C>T	1.37:g.11141202G>A			B1AKQ0|B1AKQ1|Q15158	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.R458	ENST00000376936.4	37	c.1374	CCDS30584.1	1																																																																																			EXOSC10	-	superfamily_RNaseH-like_dom		0.592	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	G	NM_001001998		11141202	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	silent	SNP	0.258	A	A	11141202	G	A	11141202	2	1	74	1	0	0	0	0	0	0	0	1	5326	1074	38	2		2	EXOSC10	1	11141202	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4555166	11141202	238109419	8	10703										
PTCHD2	57540	genome.wustl.edu	37	chr1	11589700	11589700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcctgcttagctccagcccCgatgggcctaccaaaggctt	10	15	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:11589700C>T	ENST00000294484.6	+	14	3024	c.2886C>T	c.(2884-2886)ccC>ccT	p.P962P	PTCHD2_ENST00000389575.3_Silent_p.P962P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	962					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTCCAGCCCCGATGGGCCTA	0.622																																																	0													56	59	58					1																	11589700		1963	4139	6102	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2886C>T	1.37:g.11589700C>T			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.P962	ENST00000294484.6	37	c.2886	CCDS41247.1	1																																																																																			PTCHD2	-	NULL		0.622	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	C	XM_052561		11589700	1	no_errors	ENST00000294484	ensembl	human	known	70_37	silent	SNP	0.429	T	T	11589700	C	T	11589700	2	4	74	1	0	0	0	0	0	0	0	1	12760	639	23	2		2	PTCHD2	1	11589700	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	448498	11589700	237660921	9	10704										
PRDM2	7799	genome.wustl.edu	37	chr1	14108334	14108334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcgacaatatgccggagttGcacaaacatatcctggcttg	10	10	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:14108334G>A	ENST00000235372.7	+	8	4900	c.4044G>A	c.(4042-4044)ttG>ttA	p.L1348L	PRDM2_ENST00000413440.1_Silent_p.L1147L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.L1147L|PRDM2_ENST00000311066.5_Silent_p.L1348L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCCGGAGTTGCACAAACATA	0.438																																																	0													120	116	117					1																	14108334		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4044G>A	1.37:g.14108334G>A			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.L1348	ENST00000235372.7	37	c.4044	CCDS150.1	1																																																																																			PRDM2	-	smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot		0.438	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	G	NM_012231		14108334	1	no_errors	ENST00000235372	ensembl	human	known	70_37	silent	SNP	0.992	A	A	14108334	G	A	14108334	2	1	74	1	0	0	0	0	0	0	0	1	12485	1310	46	4		4	PRDM2	1	14108334	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2518634	14108334	235142287	10	10705										
CLCNKA	1187	genome.wustl.edu	37	chr1	16349179	16349179	+	Frame_Shift_Del	DEL	G	G	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtgactctgcaggagctgtGgggcccctgtccccacatcc							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:16349179delG	ENST00000331433.4	+	2	84	c.65delG	c.(64-66)tggfs	p.W22fs	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Frame_Shift_Del_p.W22fs|CLCNKA_ENST00000420078.1_Frame_Shift_Del_p.W22fs|CLCNKA_ENST00000439316.2_Frame_Shift_Del_p.W22fs			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	22					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CAGGAGCTGTGGGGCCCCTGT	0.657																																																	0													41	39	40					1																	16349179		2193	4275	6468	SO:0001589	frameshift_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.65delG	1.37:g.16349179delG	ENSP00000332771:p.Trp22fs		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Frame_Shift_Del	DEL	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.G23fs	ENST00000331433.4	37	c.65	CCDS167.1	1																																																																																			CLCNKA	-	NULL		0.657	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16349179	1	no_errors	ENST00000331433	ensembl	human	known	70_37	frame_shift_del	DEL	0.997	-	-	16349179	G	-	16349179	7	5	74	1	0	1	0	1	0	0	0	0	3474	1357	47	0	67	0	CLCNKA	1	16349179	Frame_Shift_Del	DEL	G	TCGA-EA-A3HU-01A-11D-A20U-09	2240845	16349179	232901442	11	10706										
PINK1	65018	genome.wustl.edu	37	chr1	20966400	20966400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccaggcaggttcctccagcGaagccatcttgaacacaatg	9	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:20966400G>A	ENST00000321556.4	+	3	785	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		E -> G. {ECO:0000269|PubMed:15596610}.		activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCTCCAGCGAAGCCATCTT	0.577											OREG0013195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(145;853 1803 8146 34412 35011)												0													52	46	48					1																	20966400		2203	4300	6503	SO:0001583	missense	65018			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.691G>A	1.37:g.20966400G>A	ENSP00000364204:p.Glu231Lys	744	Q8N6T9|Q8NBU3|Q96DE4	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.E231K	ENST00000321556.4	37	c.691	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779707	0.70107	.	.	ENSG00000158828	ENST00000321556	T	0.73789	-0.78	5.85	5.85	0.93711	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173716	0.52532	D	0.000075	T	0.78020	0.4218	M	0.72894	2.215	0.49687	D	0.99981	D	0.69078	0.997	P	0.51266	0.664	T	0.73914	-0.3832	10	0.12430	T	0.62	-2.6229	15.6578	0.77155	0.0:0.0:1.0:0.0	.	231	Q9BXM7	PINK1_HUMAN	K	231	ENSP00000364204:E231K	ENSP00000364204:E231K	E	+	1	0	PINK1	20838987	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	8.091000	0.89528	2.767000	0.95098	0.655000	0.94253	GAA	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.577	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	G	NM_032409		20966400	1	no_errors	ENST00000321556	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20966400	G	A	20966400	3	1	74	1	0	0	0	0	1	0	0	0	11956	1059	37	1	701	1	PINK1	1	20966400	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4617221	20966400	228284221	12	10707										
NBPF3	84224	genome.wustl.edu	37	chr1	21809763	21809763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcagtatagaagtgcctttTactcatttgaggaacaggac	10	7	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:21809763T>C	ENST00000318249.5	+	15	2136	c.1786T>C	c.(1786-1788)Tac>Cac	p.Y596H	NBPF3_ENST00000318220.6_Missense_Mutation_p.Y540H|NBPF3_ENST00000342104.5_Missense_Mutation_p.Y584H|NBPF3_ENST00000454000.2_Missense_Mutation_p.Y526H	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	596	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGTGCCTTTTACTCATTTGA	0.453																																																	0													103	60	75					1																	21809763		2123	4145	6268	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1786T>C	1.37:g.21809763T>C	ENSP00000316782:p.Tyr596His		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.Y596H	ENST00000318249.5	37	c.1786	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.243130	0.22796	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	0.848	0.848	0.18966	DUF1220 (2);	.	.	.	.	T	0.18130	0.0435	M	0.64170	1.965	0.09310	N	1	D;D;D	0.62365	0.989;0.991;0.967	P;D;B	0.65323	0.832;0.934;0.279	T	0.09818	-1.0657	9	0.52906	T	0.07	.	4.0104	0.09619	0.0:0.0:0.0:1.0	.	526;584;596	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	H	526;540;596;584;540	ENSP00000415711:Y526H;ENSP00000316739:Y540H;ENSP00000316782:Y596H;ENSP00000340336:Y584H;ENSP00000391865:Y540H	ENSP00000316739:Y540H	Y	+	1	0	NBPF3	21682350	0.017000	0.18338	0.000000	0.03702	0.001000	0.01503	0.088000	0.14979	0.654000	0.30846	0.327000	0.21459	TAC	NBPF3	-	pfam_NBPF_dom		0.453	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		T	NM_032264		21809763	1	no_errors	ENST00000318249	ensembl	human	known	70_37	missense	SNP	0.000	C	C	21809763	T	C	21809763	3	2	74	1	0	0	0	0	1	0	0	0	10221	1754	61	5	1840	5	NBPF3	1	21809763	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	843363	21809763	227440858	13	10708										
HSPG2	3339	genome.wustl.edu	37	chr1	22167723	22167723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acacactccagggtgacagcCtttcccactttcacccacac	5	18	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:22167723C>A	ENST00000374695.3	-	71	9463	c.9384G>T	c.(9382-9384)aaG>aaT	p.K3128N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3128	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGTGACAGCCTTTCCCACTT	0.647																																																	0													49	52	51					1																	22167723		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9384G>T	1.37:g.22167723C>A	ENSP00000363827:p.Lys3128Asn		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.K3128N	ENST00000374695.3	37	c.9384	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026762	0.35797	.	.	ENSG00000142798	ENST00000374695	T	0.41758	0.99	4.74	3.74	0.42951	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000844	T	0.47002	0.1422	L	0.38175	1.15	0.09310	N	0.999999	D;D	0.89917	0.973;1.0	D;D	0.91635	0.93;0.999	T	0.24835	-1.0149	10	0.19147	T	0.46	.	8.3215	0.32132	0.0:0.846:0.0:0.154	.	1068;3128	Q59EG0;P98160	.;PGBM_HUMAN	N	3128	ENSP00000363827:K3128N	ENSP00000363827:K3128N	K	-	3	2	HSPG2	22040310	0.487000	0.25988	0.376000	0.26042	0.941000	0.58515	-0.061000	0.11693	2.467000	0.83353	0.561000	0.74099	AAG	HSPG2	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22167723	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.092	A	A	22167723	C	A	22167723	3	1	74	1	0	0	0	0	1	0	0	0	7450	680	24	4	3899	4	HSPG2	1	22167723	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	357960	22167723	227082898	14	10709										
HSPG2	3339	genome.wustl.edu	37	chr1	22178154	22178154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttccgccacttgcgaggagGagggctcgatgcggatgggc	17	11	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:22178154G>C	ENST00000374695.3	-	55	7122	c.7043C>G	c.(7042-7044)tCc>tGc	p.S2348C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2348	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTGCGAGGAGGAGGGCTCGAT	0.647																																																	0													82	87	85					1																	22178154		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7043C>G	1.37:g.22178154G>C	ENSP00000363827:p.Ser2348Cys		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S2348C	ENST00000374695.3	37	c.7043	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790793	0.50102	.	.	ENSG00000142798	ENST00000374695	T	0.69040	-0.37	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38164	N	0.001786	D	0.88066	0.6337	H	0.96662	3.86	0.42385	D	0.992507	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	D	0.91535	0.5245	10	0.59425	D	0.04	.	16.9353	0.86202	0.0:0.0:1.0:0.0	.	288;2348	Q59EG0;P98160	.;PGBM_HUMAN	C	2348	ENSP00000363827:S2348C	ENSP00000363827:S2348C	S	-	2	0	HSPG2	22050741	1.000000	0.71417	0.551000	0.28230	0.017000	0.09413	7.531000	0.81973	2.598000	0.87819	0.462000	0.41574	TCC	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22178154	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.933	C	C	22178154	G	C	22178154	3	2	74	1	0	0	0	0	1	0	0	0	7450	1174	41	1	6304	1	HSPG2	1	22178154	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10431	22178154	227072467	15	10710										
RUNX3	864	genome.wustl.edu	37	chr1	25254140	25254140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catgacggccgaggcattgcGcagctcagcggagtagttct	14	11	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25254140G>A	ENST00000308873.6	-	2	372	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RUNX3_ENST00000338888.3_Missense_Mutation_p.R136C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R29C|RUNX3_ENST00000399916.1_Missense_Mutation_p.R136C|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	122	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGGCATTGCGCAGCTCAGCG	0.632																																																	0													147	130	136					1																	25254140		2203	4300	6503	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.364C>T	1.37:g.25254140G>A	ENSP00000308051:p.Arg122Cys		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N	p.R136C	ENST00000308873.6	37	c.406	CCDS257.1	1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325203	0.60634	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.99598	-6.26;-6.26;-6.26;-6.26	5.38	5.38	0.77491	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.97825	1.0259	10	0.87932	D	0	-33.332	13.703	0.62620	0.0:0.0:0.8458:0.1542	.	122;136;122	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	C	136;122;136;29;122	ENSP00000382800:R136C;ENSP00000308051:R122C;ENSP00000343477:R136C;ENSP00000444872:R29C	ENSP00000308051:R122C	R	-	1	0	RUNX3	25126727	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	2.075000	0.41538	2.514000	0.84764	0.655000	0.94253	CGC	RUNX3	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N		0.632	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	HGNC	protein_coding	OTTHUMT00000009284.1	G	NM_004350		25254140	-1	no_errors	ENST00000338888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25254140	G	A	25254140	3	1	74	1	0	0	0	0	1	0	0	0	13779	1087	38	2	899	2	RUNX3	1	25254140	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3075986	25254140	223996481	16	10711										
TMEM57	55219	genome.wustl.edu	37	chr1	25783176	25783176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtggtaactttggggtttgGcttcaaaagttacgtaagct	12	5	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25783176G>T	ENST00000374343.4	+	5	685	c.506G>T	c.(505-507)gGc>gTc	p.G169V	TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	169					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGTTTGGCTTCAAAAGT	0.398																																																	0													74	70	72					1																	25783176		2203	4300	6503	SO:0001583	missense	55219			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.506G>T	1.37:g.25783176G>T	ENSP00000363463:p.Gly169Val		B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.G169V	ENST00000374343.4	37	c.506	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876239	0.91664	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83501	0.5268	M	0.82716	2.605	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	D	0.84930	0.0859	9	0.87932	D	0	-12.5409	19.3123	0.94195	0.0:0.0:1.0:0.0	.	169	Q8N5G2	MACOI_HUMAN	V	169	.	ENSP00000363463:G169V	G	+	2	0	TMEM57	25655763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.467000	0.97671	2.798000	0.96311	0.557000	0.71058	GGC	TMEM57	-	pfam_Macoilin		0.398	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	G	NM_018202		25783176	1	no_errors	ENST00000374343	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25783176	G	T	25783176	3	4	74	1	0	0	0	0	1	0	0	0	16214	1203	42	4	524	4	TMEM57	1	25783176	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	529036	25783176	223467445	17	10712										
LDLRAP1	26119	genome.wustl.edu	37	chr1	25891673	25891673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttttccccaaggagctggatGatggcctggatgaagcgttt	13	8	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25891673G>A	ENST00000374338.4	+	8	876	c.757G>A	c.(757-759)Gat>Aat	p.D253N	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	253	AP-2 complex binding.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCTGGATGATGGCCTGGA	0.587																																																	0													222	200	207					1																	25891673		2203	4300	6503	SO:0001583	missense	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.757G>A	1.37:g.25891673G>A	ENSP00000363458:p.Asp253Asn		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.D253N	ENST00000374338.4	37	c.757	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861519	0.91433	.	.	ENSG00000157978	ENST00000374338	T	0.63913	-0.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.81355	-0.0970	10	0.66056	D	0.02	-21.6518	17.5166	0.87776	0.0:0.0:1.0:0.0	.	253;253	B3KR97;Q5SW96	.;ARH_HUMAN	N	253	ENSP00000363458:D253N	ENSP00000363458:D253N	D	+	1	0	LDLRAP1	25764260	1.000000	0.71417	0.981000	0.43875	0.790000	0.44656	8.844000	0.92147	2.606000	0.88127	0.462000	0.41574	GAT	LDLRAP1	-	NULL		0.587	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	G	NM_015627		25891673	1	no_errors	ENST00000374338	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25891673	G	A	25891673	3	1	74	1	0	0	0	0	1	0	0	0	8728	1290	45	1	787	1	LDLRAP1	1	25891673	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	108497	25891673	223358948	18	10713										
MAP3K6	9064	genome.wustl.edu	37	chr1	27683127	27683127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagctgcaccatcagaggagCggggccctgctcgggctcca	14	15	1	1	rs199627707		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:27683127C>T	ENST00000493901.1	-	26	3717	c.3478G>A	c.(3478-3480)Gct>Act	p.A1160T	MAP3K6_ENST00000374040.3_Missense_Mutation_p.A1152T|MAP3K6_ENST00000357582.2_Missense_Mutation_p.A1160T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1160					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCAGAGGAGCGGGGCCCTGC	0.637													C|||	1	0.000199681	0	0	5008	,	,		15493	0.001		0	False		,,,				2504	0																0													36	39	38					1																	27683127		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3478G>A	1.37:g.27683127C>T	ENSP00000419591:p.Ala1160Thr		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1160T	ENST00000493901.1	37	c.3478	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271444	0.23221	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.66099	-0.19;-0.19;-0.19	5.31	2.37	0.29283	.	.	.	.	.	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.19666	0.026;0.012	T	0.22452	-1.0216	9	0.13470	T	0.59	.	5.9713	0.19353	0.1661:0.3024:0.5315:0.0	.	1152;1160	O95382-3;O95382	.;M3K6_HUMAN	T	1152;1160;1160	ENSP00000363152:A1152T;ENSP00000419591:A1160T;ENSP00000350195:A1160T	ENSP00000350195:A1160T	A	-	1	0	MAP3K6	27555714	0.490000	0.26012	0.011000	0.14972	0.300000	0.27592	1.641000	0.37197	0.225000	0.20959	-1.303000	0.01326	GCT	MAP3K6	-	NULL		0.637	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	C	NM_004672		27683127	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	0.073	T	T	27683127	C	T	27683127	3	4	74	1	0	0	0	0	1	0	0	0	9277	768	27	2	408	2	MAP3K6	1	27683127	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1791454	27683127	221567494	19	10714										
MAP3K6	9064	genome.wustl.edu	37	chr1	27690446	27690446	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagcagcaagttcatgatgaTgtcggggctcagcagctcca	13	10	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:27690446T>A	ENST00000493901.1	-	6	1065	c.826A>T	c.(826-828)Atc>Ttc	p.I276F	MAP3K6_ENST00000374040.3_Missense_Mutation_p.I268F|MAP3K6_ENST00000357582.2_Missense_Mutation_p.I276F	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	276					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCATGATGATGTCGGGGCTC	0.627																																																	0													57	54	55					1																	27690446		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.826A>T	1.37:g.27690446T>A	ENSP00000419591:p.Ile276Phe		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I276F	ENST00000493901.1	37	c.826	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260720	0.80246	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.13778	2.56;2.56;2.56	5.29	4.17	0.49024	.	.	.	.	.	T	0.32526	0.0832	M	0.72353	2.195	0.51482	D	0.999924	D;D	0.76494	0.999;0.999	D;D	0.75484	0.976;0.986	T	0.02226	-1.1192	8	.	.	.	.	9.3935	0.38388	0.0:0.0811:0.0:0.9189	.	268;276	O95382-3;O95382	.;M3K6_HUMAN	F	268;276;276	ENSP00000363152:I268F;ENSP00000419591:I276F;ENSP00000350195:I276F	.	I	-	1	0	MAP3K6	27563033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.291000	0.51764	1.047000	0.40274	0.533000	0.62120	ATC	MAP3K6	-	NULL		0.627	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	T	NM_004672		27690446	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27690446	T	A	27690446	3	1	74	1	0	0	0	0	1	0	0	0	9277	1464	51	5	3140	5	MAP3K6	1	27690446	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	7319	27690446	221560175	20	10715										
PTPRU	10076	genome.wustl.edu	37	chr1	29642524	29642524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgttccaggagcagtacaTcttcattcatgatgcaatcc	7	12	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:29642524T>G	ENST00000345512.3	+	25	3533	c.3404T>G	c.(3403-3405)aTc>aGc	p.I1135S	PTPRU_ENST00000428026.2_Missense_Mutation_p.I1122S|PTPRU_ENST00000460170.2_Missense_Mutation_p.I1131S|PTPRU_ENST00000373779.3_Missense_Mutation_p.I1125S|PTPRU_ENST00000323874.8_Missense_Mutation_p.I1131S|PTPRU_ENST00000356870.3_Missense_Mutation_p.I1131S	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1135	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAGCAGTACATCTTCATTCAT	0.532																																																	0													103	86	91					1																	29642524		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3404T>G	1.37:g.29642524T>G	ENSP00000334941:p.Ile1135Ser		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I1135S	ENST00000345512.3	37	c.3404	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846798	0.71603	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	4.51	4.51	0.55191	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.072250	0.53938	D	0.000042	T	0.49729	0.1574	M	0.81112	2.525	0.58432	D	0.999995	P;P;P;P;D	0.54207	0.895;0.895;0.895;0.915;0.965	P;P;P;P;P	0.55303	0.663;0.663;0.663;0.773;0.773	T	0.55055	-0.8200	9	.	.	.	.	13.4633	0.61239	0.0:0.0:0.0:1.0	.	1122;1131;1125;1131;1135	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	S	1135;1125;1131;1131;1122;1131	ENSP00000334941:I1135S;ENSP00000362884:I1125S;ENSP00000349333:I1131S;ENSP00000314987:I1131S;ENSP00000392332:I1122S;ENSP00000432906:I1131S	.	I	+	2	0	PTPRU	29515111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.861000	0.87004	2.021000	0.59480	0.459000	0.35465	ATC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.532	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	T			29642524	1	no_errors	ENST00000345512	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29642524	T	G	29642524	3	3	74	1	0	0	0	0	1	0	0	0	12843	1435	50	5	3524	5	PTPRU	1	29642524	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1952078	29642524	219608097	21	10716										
SERINC2	347735	genome.wustl.edu	37	chr1	31898746	31898746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggccgaggagtgcgattcccGtgcctggtacgcaggtcagt	16	11	1	0	rs374319929		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:31898746G>A	ENST00000373709.3	+	5	746	c.596G>A	c.(595-597)cGt>cAt	p.R199H	SERINC2_ENST00000536384.1_Missense_Mutation_p.R203H|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.R203H|SERINC2_ENST00000373710.1_Missense_Mutation_p.R208H	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	199					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGCGATTCCCGTGCCTGGTAC	0.637																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	73	53	60		608,623,431,608,596	3.2	0.8	1		60	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	203/460,208/465,144/401,203/460,199/456	31898746	1,13005	2203	4300	6503	SO:0001583	missense	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.596G>A	1.37:g.31898746G>A	ENSP00000362813:p.Arg199His		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	pfam_TMS_TDE	p.R208H	ENST00000373709.3	37	c.623	CCDS30662.1	1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896052	0.33442	0.0	1.16E-4	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.11	3.16	0.36331	.	0.119672	0.53938	D	0.000050	T	0.31918	0.0812	M	0.70842	2.15	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.99	D;D;P	0.67900	0.954;0.954;0.871	T	0.11421	-1.0588	10	0.87932	D	0	-17.7888	3.5949	0.08002	0.2331:0.2424:0.5245:0.0	.	203;208;199	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	H	208;203;199;203	ENSP00000362814:R208H;ENSP00000444307:R203H;ENSP00000362813:R199H;ENSP00000439048:R203H	ENSP00000362813:R199H	R	+	2	0	SERINC2	31671333	0.147000	0.22687	0.758000	0.31321	0.081000	0.17604	1.885000	0.39678	1.036000	0.39998	0.491000	0.48974	CGT	SERINC2	-	pfam_TMS_TDE		0.637	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	G	NM_018565		31898746	1	no_errors	ENST00000373710	ensembl	human	known	70_37	missense	SNP	0.006	A	A	31898746	G	A	31898746	3	1	74	1	0	0	0	0	1	0	0	0	14110	1145	40	2	614	2	SERINC2	1	31898746	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2256222	31898746	217351875	22	10717										
OSCP1	127700	genome.wustl.edu	37	chr1	36883838	36883838	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccccatgattcgagccagctCctcgctccgttgctggtcct	9	17	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:36883838C>G	ENST00000356637.5	-	11	1135	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	OSCP1_ENST00000433045.2_Missense_Mutation_p.E303Q|OSCP1_ENST00000315643.9_Intron|SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Missense_Mutation_p.E348Q			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	358					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CGAGCCAGCTCCTCGCTCCGT	0.537																																																	0													84	65	72					1																	36883838		2203	4300	6503	SO:0001583	missense	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.1072G>C	1.37:g.36883838C>G	ENSP00000349052:p.Glu358Gln		A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	pfam_OSCP1	p.E348Q	ENST00000356637.5	37	c.1042		1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528932	0.64860	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045	T;T;T	0.38887	1.53;1.56;1.11	5.58	5.58	0.84498	.	0.052821	0.85682	D	0.000000	T	0.52141	0.1716	M	0.73598	2.24	0.80722	D	1	P;P	0.52170	0.951;0.803	P;B	0.46796	0.527;0.232	T	0.56679	-0.7939	10	0.51188	T	0.08	.	16.7213	0.85410	0.0:1.0:0.0:0.0	.	348;358	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	Q	348;358;303	ENSP00000235532:E348Q;ENSP00000349052:E358Q;ENSP00000390820:E303Q	ENSP00000235532:E348Q	E	-	1	0	OSCP1	36656425	1.000000	0.71417	0.961000	0.40146	0.680000	0.39746	5.534000	0.67167	2.621000	0.88768	0.650000	0.86243	GAG	OSCP1	-	NULL		0.537	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	C	NM_145047		36883838	-1	no_errors	ENST00000235532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36883838	C	G	36883838	3	3	74	1	0	0	0	0	1	0	0	0	11310	864	30	1	101	1	OSCP1	1	36883838	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4985092	36883838	212366783	23	10718										
GNL2	29889	genome.wustl.edu	37	chr1	38061361	38061361	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagccctgccgcctgtaccTgggtttgtgctggccttgga	13	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:38061361T>A	ENST00000373062.3	-	1	161	c.63A>T	c.(61-63)ccA>ccT	p.P21P		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	21					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CGCCTGTACCTGGGTTTGTGC	0.617																																																	0													126	101	110					1																	38061361		2203	4300	6503	SO:0001630	splice_region_variant	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.64+1A>T	1.37:g.38061361T>A			Q9BWN7	Silent	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.P21	ENST00000373062.3	37	c.63	CCDS421.1	1																																																																																			GNL2	-	NULL		0.617	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	T	NM_013285	Silent	38061361	-1	no_errors	ENST00000373062	ensembl	human	known	70_37	silent	SNP	0.460	A	A	38061361	T	A	38061361	5	1	74	1	0	0	0	0	0	0	1	0	6555	1594	55	5	2196	5	GNL2	1	38061361	Splice_Site	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1177523	38061361	211189260	24	10719										
FHL3	2275	genome.wustl.edu	37	chr1	38465035	38465035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtctgtctggatgtacttgCgtccatacagggactcgttg	12	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:38465035C>T	ENST00000373016.3	-	2	218	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	17					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GATGTACTTGCGTCCATACAG	0.542																																																	0													108	95	99					1																	38465035		2203	4300	6503	SO:0001583	missense	2275			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.50G>A	1.37:g.38465035C>T	ENSP00000362107:p.Arg17His		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R17H	ENST00000373016.3	37	c.50	CCDS30678.1	1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834455	0.71373	.	.	ENSG00000183386	ENST00000373016	D	0.87103	-2.21	5.67	5.67	0.87782	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	L	0.45352	1.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66979	0.948;0.894	D	0.90202	0.4258	10	0.45353	T	0.12	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	17;17	Q9P100;Q13643	.;FHL3_HUMAN	H	17	ENSP00000362107:R17H	ENSP00000362107:R17H	R	-	2	0	FHL3	38237622	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.669000	0.61575	2.686000	0.91538	0.561000	0.74099	CGC	FHL3	-	NULL		0.542	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	HGNC	protein_coding	OTTHUMT00000012958.1	C	NM_004468		38465035	-1	no_errors	ENST00000373016	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38465035	C	T	38465035	3	4	74	1	0	0	0	0	1	0	0	0	5898	768	27	2	812	2	FHL3	1	38465035	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	403674	38465035	210785586	25	10720										
MACF1	23499	genome.wustl.edu	37	chr1	39753018	39753018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagtgtacaaacctgtaccgGaagggtcatttcacttcact	9	10	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:39753018G>A	ENST00000372915.3	+	14	1671	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	MACF1_ENST00000567887.1_Silent_p.R560R|MACF1_ENST00000564288.1_Silent_p.R523R|MACF1_ENST00000317713.7_Silent_p.R528R|MACF1_ENST00000361689.2_Silent_p.R528R|MACF1_ENST00000545844.1_Silent_p.R528R|MACF1_ENST00000539005.1_Silent_p.R528R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	528					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCTGTACCGGAAGGGTCATT	0.438																																																	0													191	168	176					1																	39753018		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1584G>A	1.37:g.39753018G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R528	ENST00000372915.3	37	c.1584		1																																																																																			MACF1	-	NULL		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39753018	1	no_errors	ENST00000317713	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39753018	G	A	39753018	2	1	74	1	0	0	0	0	0	0	0	1	9167	1161	41	1		1	MACF1	1	39753018	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1287983	39753018	209497603	26	10721										
KIAA0754	643314	genome.wustl.edu	37	chr1	39879469	39879470	+	Frame_Shift_Ins	INS	-	-	C													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccagctgctgcagtgcccaINSccccagcagaatctgcctcc							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:39879469_39879470insC	ENST00000530275.1	+	1	3319_3320	c.3124_3125insC	c.(3124-3126)accfs	p.T1042fs	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1042	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGCAGAA	0.663																																																	0																																										SO:0001589	frameshift_variant	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3128dupC	1.37:g.39879473_39879473dupC	ENSP00000431179:p.Thr1042fs		E9PMC2|Q6ZSB2	Frame_Shift_Ins	INS	NULL	p.A1044fs	ENST00000530275.1	37	c.3124_3125		1																																																																																			KIAA0754	-	NULL		0.663	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	-	NM_015038		39879470	1	no_errors	ENST00000530275	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C	C	39879470	-	C	39879469	7	5	74	1	0	1	1	0	0	0	0	0	8212	159	6	0	3534	0	KIAA0754	1	39879469	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	126451	39879469	209371152	27	10722										
ZNF684	127396	genome.wustl.edu	37	chr1	41012967	41012967	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaagaattcatacaggagaGaaaccttacagttgtattga	8	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:41012967G>A	ENST00000372699.3	+	5	1223	c.972G>A	c.(970-972)gaG>gaA	p.E324E	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ATACAGGAGAGAAACCTTACA	0.418																																																	0													102	107	105					1																	41012967		2203	4300	6503	SO:0001819	synonymous_variant	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.972G>A	1.37:g.41012967G>A			Q2NKY4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E324	ENST00000372699.3	37	c.972	CCDS454.1	1																																																																																			ZNF684	-	pfscan_Znf_C2H2		0.418	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	G	NM_152373		41012967	1	no_errors	ENST00000372699	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41012967	G	A	41012967	2	1	74	1	0	0	0	0	0	0	0	1	18121	933	33	1		1	ZNF684	1	41012967	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1133498	41012967	208237654	28	10723										
EPS15	2060	genome.wustl.edu	37	chr1	51912772	51912772	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctttttctgcaggggatacAacccactacagggaggaaaa	11	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:51912772A>T	ENST00000371733.3	-	10	753	c.657T>A	c.(655-657)gtT>gtA	p.V219V	EPS15_ENST00000371730.2_Silent_p.V219V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	219	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGGGGATACAACCCACTACA	0.363			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											85	88	87					1																	51912772		2203	4300	6503	SO:0001819	synonymous_variant	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.657T>A	1.37:g.51912772A>T			B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V219	ENST00000371733.3	37	c.657	CCDS557.1	1																																																																																			EPS15	-	smart_EPS15_homology		0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	A	NM_001981		51912772	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51912772	A	T	51912772	2	4	74	1	0	0	0	0	0	0	0	1	5204	117	5	5		5	EPS15	1	51912772	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	10899805	51912772	197337849	29	10724										
NRD1	4898	genome.wustl.edu	37	chr1	52305911	52305912	+	Frame_Shift_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgcacctgtttttcagtagINSttttttttctagcttctgct					rs372511102		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:52305911_52305912insT	ENST00000354831.7	-	2	805_806	c.616_617insA	c.(616-618)actfs	p.T206fs	NRD1_ENST00000539524.1_Frame_Shift_Ins_p.T74fs|NRD1_ENST00000544028.1_Frame_Shift_Ins_p.T74fs|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.T206fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTTTTCAGTAGTTTTTTTTCTA	0.332																																																	0																																										SO:0001589	frameshift_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.617dupA	1.37:g.52305919_52305919dupT	ENSP00000346890:p.Thr206fs		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Ins	INS	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.T206fs	ENST00000354831.7	37	c.617_616	CCDS559.1	1																																																																																			NRD1	-	superfamily_Metalloenz_metal-bd		0.332	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	NM_002525		52305912	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	52305912	-	T	52305911	7	5	74	1	0	1	1	0	0	0	0	0	10669	1029	36	0	3170	0	NRD1	1	52305911	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	393139	52305911	196944710	30	10725										
CC2D1B	200014	genome.wustl.edu	37	chr1	52822066	52822066	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgcacttaccgggtggtctCagccacgttgccctggtgca	12	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:52822066C>G	ENST00000371586.2	-	17	2083	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	CC2D1B_ENST00000284376.3_Missense_Mutation_p.E643Q|CC2D1B_ENST00000460261.1_5'UTR|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000438831.1_Missense_Mutation_p.E24Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	649						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CGGGTGGTCTCAGCCACGTTG	0.567																																																	0													136	135	135					1																	52822066		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1945G>C	1.37:g.52822066C>G	ENSP00000360642:p.Glu649Gln		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.E649Q	ENST00000371586.2	37	c.1945	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762805	0.89932	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.27256	1.68;1.68;1.68	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.72894	2.215	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.996	T	0.50591	-0.8810	10	0.62326	D	0.03	-22.8664	15.5236	0.75885	0.0:1.0:0.0:0.0	.	429;643;649	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	Q	649;643;557;24	ENSP00000360642:E649Q;ENSP00000284376:E643Q;ENSP00000406300:E24Q	ENSP00000284376:E643Q	E	-	1	0	CC2D1B	52594654	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.384000	0.73177	2.656000	0.90262	0.561000	0.74099	GAG	CC2D1B	-	NULL		0.567	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	C	NM_032449		52822066	-1	no_errors	ENST00000371586	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52822066	C	G	52822066	3	3	74	1	0	0	0	0	1	0	0	0	2732	835	29	1	663	1	CC2D1B	1	52822066	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	516155	52822066	196428555	31	10726										
FAM151A	338094	genome.wustl.edu	37	chr1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgttgtcactgtagatagtGggggggtgtgccatgatggg							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:55081757delG	ENST00000302250.2	-	3	511	c.351delC	c.(349-351)cccfs	p.P117fs	FAM151A_ENST00000371304.2_Frame_Shift_Del_p.P117fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTAGATAGTGGGGGGGTGTG	0.592																																																	1	Deletion - Frameshift(1)	ovary(1)											108	86	93					1																	55081757		2203	4300	6503	SO:0001589	frameshift_variant	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.351delC	1.37:g.55081757delG	ENSP00000306888:p.Pro117fs		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Del	DEL	pfam_DUF2181	p.T118fs	ENST00000302250.2	37	c.351	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181		0.592	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	G	NM_176782		55081757	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	frame_shift_del	DEL	0.037	-	-	55081757	G	-	55081757	7	5	74	1	0	1	0	1	0	0	0	0	5473	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Del	DEL	G	TCGA-EA-A3HU-01A-11D-A20U-09	2259691	55081757	194168864	32	10727										
C1orf168	199920	genome.wustl.edu	37	chr1	57257810	57257810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctctcaggaggtgggttttCccagctttttctgatatgtt	10	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:57257810C>T	ENST00000343433.6	-	2	756	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	226										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGTGGGTTTTCCCAGCTTTTT	0.517																																																	0													66	73	71					1																	57257810		2203	4300	6503	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.676G>A	1.37:g.57257810C>T	ENSP00000345972:p.Glu226Lys		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.E226K	ENST00000343433.6	37	c.676	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774508	0.31411	.	.	ENSG00000187889	ENST00000343433	T	0.34472	1.36	3.75	1.84	0.25277	.	0.465038	0.18348	N	0.143967	T	0.17916	0.0430	N	0.17082	0.46	0.09310	N	1	B;B	0.24721	0.033;0.11	B;B	0.23419	0.031;0.046	T	0.22941	-1.0202	10	0.15066	T	0.55	-3.7446	6.4016	0.21642	0.0:0.7717:0.0:0.2283	.	226;226	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	K	226	ENSP00000345972:E226K	ENSP00000345972:E226K	E	-	1	0	C1orf168	57030398	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.895000	0.28363	0.551000	0.29008	-0.253000	0.11424	GAA	C1orf168	-	NULL		0.517	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	C	NM_001004303		57257810	-1	no_errors	ENST00000343433	ensembl	human	known	70_37	missense	SNP	0.001	T	T	57257810	C	T	57257810	3	4	74	1	0	0	0	0	1	0	0	0	2017	864	30	1	1586	1	C1orf168	1	57257810	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2176053	57257810	191992811	33	10728										
ALG6	29929	genome.wustl.edu	37	chr1	63894697	63894698	+	Frame_Shift_Del	DEL	AA	AA	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aacttccttttcaatatttgAaaagacttctgaagaagaac							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:63894697_63894698delAA	ENST00000371108.4	+	14	1531_1532	c.1226_1227delAA	c.(1225-1227)gaafs	p.E409fs	ALG6_ENST00000263440.4_Frame_Shift_Del_p.E411fs|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	409					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCAATATTTGAAAAGACTTCTG	0.337																																																	0																																										SO:0001589	frameshift_variant	29929			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1226_1227delAA	1.37:g.63894699_63894700delAA	ENSP00000360149:p.Glu409fs		B3KMU2|Q5SXR9|Q9H3I0	Frame_Shift_Del	DEL	pfam_Glyco_trans_ALG6/ALG8	p.K412fs	ENST00000371108.4	37	c.1232_1233	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8		0.337	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	AA	NM_013339		63894698	1	no_errors	ENST00000263440	ensembl	human	known	70_37	frame_shift_del	DEL	0.990:0.911	-	-	63894698	AA	-	63894697	7	5	74	1	0	1	0	1	0	0	0	0	522	246	9	0	1276	0	ALG6	1	63894697	Frame_Shift_Del	DEL	AA	TCGA-EA-A3HU-01A-11D-A20U-09	6636887	63894697	185355924	34	10729										
C1orf173	127254	genome.wustl.edu	37	chr1	75065580	75065580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcattagatttttcaccttGtttctcctcatctacttcaa	2	11	6	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:75065580G>T	ENST00000326665.5	-	11	1743	c.1525C>A	c.(1525-1527)Caa>Aaa	p.Q509K	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q312K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		509	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCACCTTGTTTCTCCTCA	0.338																																																	0													162	171	168					1																	75065580		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.1525C>A	1.37:g.75065580G>T	ENSP00000322609:p.Gln509Lys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.Q509K	ENST00000326665.5	37	c.1525	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	0.159	-1.083602	0.01888	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18502	2.63;2.21	5.85	3.77	0.43336	.	.	.	.	.	T	0.03263	0.0095	L	0.42245	1.32	0.26317	N	0.977732	B;B	0.31548	0.034;0.328	B;B	0.23716	0.032;0.048	T	0.37174	-0.9717	9	0.05959	T	0.93	-3.3205	7.5349	0.27704	0.2718:0.0:0.7282:0.0	.	312;509	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	K	509;312	ENSP00000322609:Q509K;ENSP00000398581:Q312K	ENSP00000322609:Q509K	Q	-	1	0	C1orf173	74838168	1.000000	0.71417	0.860000	0.33809	0.002000	0.02628	2.085000	0.41634	1.483000	0.48342	-0.157000	0.13467	CAA	C1orf173	-	NULL		0.338	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75065580	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.982	T	T	75065580	G	T	75065580	3	4	74	1	0	0	0	0	1	0	0	0	2019	1386	48	4	3083	4	C1orf173	1	75065580	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11170883	75065580	174185041	35	10730										
SLC44A5	204962	genome.wustl.edu	37	chr1	75702683	75702683	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcacttacatgagaatccaAtaccaagttcttgcatagtc	5	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:75702683A>T	ENST00000370855.5	-	11	842	c.729T>A	c.(727-729)taT>taA	p.Y243*	SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.Y113*|SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.Y243*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	243					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGAGAATCCAATACCAAGTTC	0.318																																																	0													64	58	60					1																	75702683		2203	4300	6503	SO:0001587	stop_gained	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.729T>A	1.37:g.75702683A>T	ENSP00000359892:p.Tyr243*		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Nonsense_Mutation	SNP	pfam_Choline_transptr-like	p.Y243*	ENST00000370855.5	37	c.729	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	A	38	6.649996	0.97734	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	5.51	0.455	0.16649	.	0.805113	0.11909	N	0.517877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7613	5.5977	0.17337	0.5517:0.1421:0.3062:0.0	.	.	.	.	X	243;282;243;113;236	.	ENSP00000359892:Y243X	Y	-	3	2	SLC44A5	75475271	0.998000	0.40836	0.994000	0.49952	0.909000	0.53808	0.763000	0.26517	0.065000	0.16485	0.482000	0.46254	TAT	SLC44A5	-	NULL		0.318	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	A	NM_152697		75702683	-1	no_errors	ENST00000370855	ensembl	human	known	70_37	nonsense	SNP	0.994	T	T	75702683	A	T	75702683	4	4	74	1	0	0	0	0	0	1	0	0	14669	108	4	5	1597	5	SLC44A5	1	75702683	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	637103	75702683	173547938	36	10731										
PTGFR	5737	genome.wustl.edu	37	chr1	78958718	78958718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtatatgcttctgataaagAatggatccgctttgaccaat	8	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:78958718A>G	ENST00000370757.3	+	2	527	c.290A>G	c.(289-291)gAa>gGa	p.E97G	PTGFR_ENST00000370758.1_Missense_Mutation_p.E97G|PTGFR_ENST00000370756.3_Missense_Mutation_p.E97G	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	97					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TCTGATAAAGAATGGATCCGC	0.443																																																	0													135	126	129					1																	78958718		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.290A>G	1.37:g.78958718A>G	ENSP00000359793:p.Glu97Gly		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn	p.E97G	ENST00000370757.3	37	c.290	CCDS686.1	1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502931	0.26949	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.73363	-0.74;-0.74;-0.74	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.256239	0.45606	D	0.000348	T	0.47637	0.1456	N	0.17474	0.49	0.37026	D	0.896423	B;P	0.35684	0.379;0.515	B;B	0.36244	0.158;0.22	T	0.53690	-0.8403	10	0.23891	T	0.37	-6.42	16.5479	0.84454	1.0:0.0:0.0:0.0	.	97;97	P43088;P43088-2	PF2R_HUMAN;.	G	97	ENSP00000359794:E97G;ENSP00000359793:E97G;ENSP00000359792:E97G	ENSP00000359792:E97G	E	+	2	0	PTGFR	78731306	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.125000	0.77193	2.371000	0.80710	0.533000	0.62120	GAA	PTGFR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.443	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFR	HGNC	protein_coding	OTTHUMT00000026582.1	A	NM_000959		78958718	1	no_errors	ENST00000370757	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78958718	A	G	78958718	3	3	74	1	0	0	0	0	1	0	0	0	12777	246	9	5	292	5	PTGFR	1	78958718	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3256035	78958718	170291903	37	10732										
LPAR3	23566	genome.wustl.edu	37	chr1	85331733	85331733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caagctttgttcctgtccagTcatcgacagtatcagtgttg	9	10	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:85331733T>A	ENST00000440886.1	-	1	109	c.71A>T	c.(70-72)gAc>gTc	p.D24V	LPAR3_ENST00000370611.3_Missense_Mutation_p.D24V|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	24					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCCTGTCCAGTCATCGACAGT	0.383																																																	0													110	119	116					1																	85331733		2203	4300	6503	SO:0001583	missense	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.71A>T	1.37:g.85331733T>A	ENSP00000395389:p.Asp24Val		A0AVA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt	p.D24V	ENST00000440886.1	37	c.71	CCDS700.1	1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498588	0.26861	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37235	1.21;1.21	5.45	5.45	0.79879	.	0.491092	0.22276	N	0.062192	T	0.16557	0.0398	L	0.29908	0.895	0.44500	D	0.997441	B	0.14805	0.011	B	0.12837	0.008	T	0.03212	-1.1060	10	0.41790	T	0.15	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	24	Q9UBY5	LPAR3_HUMAN	V	24	ENSP00000395389:D24V;ENSP00000359643:D24V	ENSP00000359643:D24V	D	-	2	0	LPAR3	85104321	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	3.713000	0.54882	2.063000	0.61619	0.260000	0.18958	GAC	LPAR3	-	prints_LPA_rcpt_EDG7,prints_LPA_rcpt		0.383	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR3	HGNC	protein_coding	OTTHUMT00000027467.1	T	NM_012152		85331733	-1	no_errors	ENST00000370611	ensembl	human	known	70_37	missense	SNP	0.996	A	A	85331733	T	A	85331733	3	1	74	1	0	0	0	0	1	0	0	0	8929	1667	58	5	998	5	LPAR3	1	85331733	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	6373015	85331733	163918888	38	10733										
BCL10	8915	genome.wustl.edu	37	chr1	85742018	85742018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtcctcctcggtgagggaCggtgcggtgggctccatggt	18	10	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:85742018C>A	ENST00000370580.1	-	1	755	c.18G>T	c.(16-18)ccG>ccT	p.P6P	RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	6					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CGGTGAGGGACGGTGCGGTGG	0.721			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)			Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													65	59	61					1																	85742018		2203	4300	6503	SO:0001819	synonymous_variant	8915			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.18G>T	1.37:g.85742018C>A			Q5VUF1	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.P6	ENST00000370580.1	37	c.18	CCDS704.1	1																																																																																			BCL10	-	NULL		0.721	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1	C	NM_003921		85742018	-1	no_errors	ENST00000271015	ensembl	human	known	70_37	silent	SNP	0.997	A	A	85742018	C	A	85742018	2	1	74	1	0	0	0	0	0	0	0	1	1363	523	19	2		2	BCL10	1	85742018	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	410285	85742018	163508603	39	10734										
COL24A1	255631	genome.wustl.edu	37	chr1	86554876	86554876	+	Frame_Shift_Del	DEL	G	G	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttatcaccttgcataccaGgggggcccattaatccagaa							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:86554876delG	ENST00000370571.2	-	7	2054	c.1688delC	c.(1687-1689)cctfs	p.P563fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.P563fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	563	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGCATACCAGGGGGGCCCAT	0.333																																																	0													78	76	77					1																	86554876		1804	4063	5867	SO:0001589	frameshift_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1688delC	1.37:g.86554876delG	ENSP00000359603:p.Pro563fs		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P563fs	ENST00000370571.2	37	c.1688	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen		0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	G	NM_152890		86554876	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	86554876	G	-	86554876	7	5	74	1	0	1	0	1	0	0	0	0	3688	1000	35	0	3672	0	COL24A1	1	86554876	Frame_Shift_Del	DEL	G	TCGA-EA-A3HU-01A-11D-A20U-09	812858	86554876	162695745	40	10735										
BARHL2	343472	genome.wustl.edu	37	chr1	91182143	91182143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcaccgtggcatttgatgtCgctctgggaatcctcccgct	10	14	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:91182143C>T	ENST00000370445.4	-	1	651	c.610G>A	c.(610-612)Gac>Aac	p.D204N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CATTTGATGTCGCTCTGGGAA	0.607																																					GBM(199;3561 4100 22440)												0													78	68	71					1																	91182143		2203	4300	6503	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.610G>A	1.37:g.91182143C>T	ENSP00000359474:p.Asp204Asn		A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D204N	ENST00000370445.4	37	c.610	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374161	0.82573	.	.	ENSG00000143032	ENST00000370445	D	0.90955	-2.76	5.93	5.93	0.95920	.	0.094419	0.64402	D	0.000001	T	0.75860	0.3907	N	0.08118	0	0.80722	D	1	P	0.50943	0.94	B	0.40636	0.335	T	0.79080	-0.1950	10	0.27785	T	0.31	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	204	Q9NY43	BARH2_HUMAN	N	204	ENSP00000359474:D204N	ENSP00000359474:D204N	D	-	1	0	BARHL2	90954731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.249000	0.78278	2.805000	0.96524	0.655000	0.94253	GAC	BARHL2	-	NULL		0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	C			91182143	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91182143	C	T	91182143	3	4	74	1	0	0	0	0	1	0	0	0	1315	884	31	1	565	1	BARHL2	1	91182143	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4627267	91182143	158068478	41	10736										
HFM1	164045	genome.wustl.edu	37	chr1	91781501	91781501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atataacagtcactaatattTctgccgtcgtatcactatat	4	9	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:91781501T>G	ENST00000370425.3	-	28	3109	c.3011A>C	c.(3010-3012)gAa>gCa	p.E1004A	HFM1_ENST00000370424.3_Missense_Mutation_p.E683A|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.E236A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1004	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CACTAATATTTCTGCCGTCGT	0.313																																																	0													56	56	56					1																	91781501		2201	4298	6499	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3011A>C	1.37:g.91781501T>G	ENSP00000359454:p.Glu1004Ala		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1004A	ENST00000370425.3	37	c.3011	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.030|9.030	0.987136|0.987136	0.18889|0.18889	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	5.25|5.25	4.09|4.09	0.47781|0.47781	Sec63 domain (2);|.	0.132552|.	0.48767|.	D|.	0.000167|.	T|T	0.51329|0.51329	0.1668|0.1668	M|M	0.64404|0.64404	1.975|1.975	0.46981|0.46981	D|D	0.999277|0.999277	P;P;B|.	0.42584|.	0.749;0.784;0.117|.	B;P;B|.	0.46796|.	0.219;0.527;0.124|.	T|T	0.51679|0.51679	-0.8675|-0.8675	10|5	0.48119|.	T|.	0.1|.	.|.	11.1337|11.1337	0.48362|0.48362	0.0:0.074:0.0:0.926|0.0:0.074:0.0:0.926	.|.	683;215;1004|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	A|Q	1004;236;683;688|216	ENSP00000359454:E1004A;ENSP00000294696:E236A;ENSP00000359453:E683A|.	ENSP00000294696:E236A|.	E|K	-|-	2|1	0|0	HFM1|HFM1	91554089|91554089	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.038000|0.038000	0.13279|0.13279	5.761000|5.761000	0.68801|0.68801	0.808000|0.808000	0.34231|0.34231	0.377000|0.377000	0.23210|0.23210	GAA|AAA	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	T	NM_001017975		91781501	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91781501	T	G	91781501	3	3	74	1	0	0	0	0	1	0	0	0	7103	1783	62	5	1344	5	HFM1	1	91781501	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	599358	91781501	157469120	42	10737										
GLMN	11146	genome.wustl.edu	37	chr1	92713518	92713518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctttaagaaattattctcaAtatttccaagttctgtccat	4	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:92713518A>C	ENST00000370360.3	-	17	1583	c.1502T>G	c.(1501-1503)aTt>aGt	p.I501S	GLMN_ENST00000534881.1_Missense_Mutation_p.I487S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	501					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATTATTCTCAATATTTCCAAG	0.308									Multiple Glomus Tumors (of the Skin), Familial																																								0													93	98	96					1																	92713518		2202	4290	6492	SO:0001583	missense	11146	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1502T>G	1.37:g.92713518A>C	ENSP00000359385:p.Ile501Ser		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.I501S	ENST00000370360.3	37	c.1502	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956177	0.73902	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.51574	0.7;0.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.984	T	0.67273	-0.5712	10	0.87932	D	0	-8.9665	16.8222	0.85835	1.0:0.0:0.0:0.0	.	487;501	B4DJ85;Q92990	.;GLMN_HUMAN	S	501;487	ENSP00000359385:I501S;ENSP00000440156:I487S	ENSP00000359385:I501S	I	-	2	0	GLMN	92486106	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.381000	0.79718	2.371000	0.80710	0.533000	0.62120	ATT	GLMN	-	pfam_YAP-bd/Alf4/glomulin		0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	A	NM_007070		92713518	-1	no_errors	ENST00000370360	ensembl	human	known	70_37	missense	SNP	1.000	C	C	92713518	A	C	92713518	3	2	74	1	0	0	0	0	1	0	0	0	6467	101	4	5	294	5	GLMN	1	92713518	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	932017	92713518	156537103	43	10738										
DPYD	1806	genome.wustl.edu	37	chr1	98144663	98144663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctactcacctattccaatgaAagcagctttgtagccttttt	5	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:98144663A>C	ENST00000370192.3	-	8	938	c.838T>G	c.(838-840)Ttc>Gtc	p.F280V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	280					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATTCCAATGAAAGCAGCTTTG	0.294																																																	0													30	28	29					1																	98144663		2190	4284	6474	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.838T>G	1.37:g.98144663A>C	ENSP00000359211:p.Phe280Val		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.F280V	ENST00000370192.3	37	c.838	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982332	0.74474	.	.	ENSG00000188641	ENST00000370192	D	0.93547	-3.24	5.67	5.67	0.87782	.	0.094831	0.64402	D	0.000001	D	0.97334	0.9128	H	0.96576	3.845	0.80722	D	1	D	0.57257	0.979	P	0.58928	0.848	D	0.98465	1.0598	10	0.87932	D	0	-17.2905	16.1924	0.82000	1.0:0.0:0.0:0.0	.	280	Q12882	DPYD_HUMAN	V	280	ENSP00000359211:F280V	ENSP00000359211:F280V	F	-	1	0	DPYD	97917251	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.089000	0.76909	2.287000	0.76781	0.482000	0.46254	TTC	DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.294	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	A	NM_000110		98144663	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98144663	A	C	98144663	3	2	74	1	0	0	0	0	1	0	0	0	4755	14	1	5	2303	5	DPYD	1	98144663	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	5431145	98144663	151105958	44	10739										
FNDC7	163479	genome.wustl.edu	37	chr1	109276098	109276098	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtatacactgtgatggtctCaccagttgctaaaacaggat	9	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109276098C>T	ENST00000370017.3	+	10	2361	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	FNDC7_ENST00000271311.2_Missense_Mutation_p.S696L|RP11-293A10.3_ENST00000437400.2_RNA	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	695	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.S462L(1)|p.S695L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGATGGTCTCACCAGTTGCT	0.423																																																	2	Substitution - Missense(2)	urinary_tract(2)											106	101	103					1																	109276098		2203	4300	6503	SO:0001583	missense	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2084C>T	1.37:g.109276098C>T	ENSP00000359034:p.Ser695Leu		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S696L	ENST00000370017.3	37	c.2087	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999830	0.93227	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	D;D	0.97959	-4.63;-4.63	5.84	5.84	0.93424	Fibronectin, type III (1);	0.058259	0.64402	D	0.000001	D	0.94231	0.8148	L	0.27053	0.805	0.58432	D	0.999993	P;D	0.53885	0.775;0.963	B;P	0.47603	0.256;0.551	D	0.93172	0.6567	10	0.12103	T	0.63	-12.0683	20.1377	0.98035	0.0:1.0:0.0:0.0	.	696;695	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	L	695;696	ENSP00000359034:S695L;ENSP00000271311:S696L	ENSP00000271311:S696L	S	+	2	0	FNDC7	109077621	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.464000	0.66719	2.766000	0.95052	0.609000	0.83330	TCA	FNDC7	-	superfamily_Fibronectin_type3		0.423	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	C	NM_173532		109276098	1	no_errors	ENST00000271311	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109276098	C	T	109276098	3	4	74	1	0	0	0	0	1	0	0	0	5991	838	29	1	2122	1	FNDC7	1	109276098	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11131435	109276098	139974523	45	10740										
CLCC1	23155	genome.wustl.edu	37	chr1	109477372	109477372	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgtatgtgctgccttggtCtgggctgcctgcggcttcag	15	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109477372C>G	ENST00000369971.2	-	11	1705	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	CLCC1_ENST00000356970.2_Missense_Mutation_p.D526H|CLCC1_ENST00000302500.4_Missense_Mutation_p.D405H|CLCC1_ENST00000369968.2_Missense_Mutation_p.D341H|CLCC1_ENST00000369970.3_Missense_Mutation_p.D476H|CLCC1_ENST00000348264.2_Missense_Mutation_p.D341H|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.D476H|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.D405H|CLCC1_ENST00000482889.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	526						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTGCCTTGGTCTGGGCTGCCT	0.607																																																	0													117	106	110					1																	109477372		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1576G>C	1.37:g.109477372C>G	ENSP00000358988:p.Asp526His		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.D526H	ENST00000369971.2	37	c.1576	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745511	0.30955	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	4.68	-5.23	0.02798	.	1.875720	0.02445	N	0.085005	T	0.08626	0.0214	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.14805	0.011;0.011;0.001;0.003	B;B;B;B	0.09377	0.004;0.004;0.002;0.003	T	0.23511	-1.0186	10	0.66056	D	0.02	1.8032	4.8045	0.13314	0.1136:0.1928:0.5288:0.1647	.	341;405;476;526	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	H	526;526;476;405;341;476;341;405	ENSP00000349456:D526H;ENSP00000358988:D526H;ENSP00000411591:D476H;ENSP00000358986:D405H;ENSP00000358985:D341H;ENSP00000358987:D476H;ENSP00000337243:D341H;ENSP00000306552:D405H	ENSP00000306552:D405H	D	-	1	0	CLCC1	109278895	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.398000	0.07259	-0.485000	0.06754	0.563000	0.77884	GAC	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.607	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	C	NM_015127		109477372	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	missense	SNP	0.000	G	G	109477372	C	G	109477372	3	3	74	1	0	0	0	0	1	0	0	0	3465	913	32	1	83	1	CLCC1	1	109477372	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	201274	109477372	139773249	46	10741										
MYBPHL	343263	genome.wustl.edu	37	chr1	109837879	109837879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggctctgtacttagggttgCcttggatatccatcttgttc	11	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109837879C>T	ENST00000357155.1	-	7	957	c.908G>A	c.(907-909)gGc>gAc	p.G303D	MYBPHL_ENST00000477962.1_5'UTR	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	303	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTTAGGGTTGCCTTGGATATC	0.532																																																	0													116	103	107					1																	109837879		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.908G>A	1.37:g.109837879C>T	ENSP00000349678:p.Gly303Asp		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G303D	ENST00000357155.1	37	c.908	CCDS30793.1	1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084094	0.20309	.	.	ENSG00000221986	ENST00000357155	T	0.66099	-0.19	5.25	4.34	0.51931	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30759	0.0775	N	0.02286	-0.61	0.36314	D	0.857855	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.015	T	0.42050	-0.9474	9	0.05959	T	0.93	.	7.6663	0.28432	0.0:0.8162:0.0:0.1838	.	280;303	B7ZME5;A2RUH7	.;MBPHL_HUMAN	D	303	ENSP00000349678:G303D	ENSP00000349678:G303D	G	-	2	0	MYBPHL	109639402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.442000	0.47568	0.561000	0.74099	GGC	MYBPHL	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	HGNC	protein_coding	OTTHUMT00000033197.1	C	NM_001010985		109837879	-1	no_errors	ENST00000357155	ensembl	human	known	70_37	missense	SNP	0.993	T	T	109837879	C	T	109837879	3	4	74	1	0	0	0	0	1	0	0	0	10038	739	26	4	164	4	MYBPHL	1	109837879	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	360507	109837879	139412742	47	10742										
SORT1	6272	genome.wustl.edu	37	chr1	109883466	109883466	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttggaatagacaatgcctcGatcatctgaggtaaagattg	10	7	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109883466G>A	ENST00000256637.6	-	10	1202	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	SORT1_ENST00000538502.1_Nonsense_Mutation_p.R245*	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	382					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTCGATCATCTGAG	0.458																																																	0													141	116	124					1																	109883466		2203	4300	6503	SO:0001587	stop_gained	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1144C>T	1.37:g.109883466G>A	ENSP00000256637:p.Arg382*		B4DWI3|C0JYZ0|Q8IZ49	Nonsense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.R382*	ENST00000256637.6	37	c.1144	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	g	41	8.708148	0.98922	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	.	.	.	5.69	5.69	0.88448	.	0.065301	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3923	18.5756	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	X	382;245	.	ENSP00000256637:R382X	R	-	1	2	SORT1	109684989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.369000	0.66138	2.687000	0.91594	0.651000	0.88453	CGA	SORT1	-	smart_VPS10		0.458	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	G	NM_002959		109883466	-1	no_errors	ENST00000256637	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	109883466	G	A	109883466	4	1	74	1	0	0	0	0	0	1	0	0	14965	1066	37	1	1395	1	SORT1	1	109883466	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	45587	109883466	139367155	48	10743										
AMPD2	271	genome.wustl.edu	37	chr1	110169454	110169454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagcttctgccccaccacccGccgctacctgcagcagctgg	10	19	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:110169454G>A	ENST00000256578.3	+	6	1160	c.800G>A	c.(799-801)cGc>cAc	p.R267H	AMPD2_ENST00000528667.1_Missense_Mutation_p.R267H|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.R148H|AMPD2_ENST00000358729.4_Missense_Mutation_p.R192H|AMPD2_ENST00000342115.4_Missense_Mutation_p.R186H|AMPD2_ENST00000528454.1_Missense_Mutation_p.R149H|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	267					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCACCACCCGCCGCTACCTG	0.632																																																	0													47	54	51					1																	110169454		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.800G>A	1.37:g.110169454G>A	ENSP00000256578:p.Arg267His		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.R267H	ENST00000256578.3	37	c.800	CCDS805.1	1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824157	0.71143	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	4.77	4.77	0.60923	.	0.194820	0.42172	D	0.000745	T	0.18383	0.0441	N	0.14661	0.345	0.41724	D	0.989529	P;D;D;D	0.54047	0.955;0.964;0.959;0.964	B;P;B;P	0.48901	0.276;0.594;0.411;0.594	T	0.02942	-1.1091	10	0.52906	T	0.07	-28.6379	12.1781	0.54196	0.0:0.3108:0.6892:0.0	.	192;148;267;186	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	H	186;267;267;192;149;148	ENSP00000345498:R186H;ENSP00000436541:R267H;ENSP00000256578:R267H;ENSP00000351573:R192H;ENSP00000437164:R149H;ENSP00000377292:R148H	ENSP00000256578:R267H	R	+	2	0	AMPD2	109970977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.427000	0.66483	2.463000	0.83235	0.462000	0.41574	CGC	AMPD2	-	pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.632	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1	G			110169454	1	no_errors	ENST00000256578	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110169454	G	A	110169454	3	1	74	1	0	0	0	0	1	0	0	0	586	1087	38	2	863	2	AMPD2	1	110169454	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	285988	110169454	139081167	49	10744										
CTTNBP2NL	55917	genome.wustl.edu	37	chr1	112998784	112998784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaagaagagttggcagctGagagaaagagaggcttgcag	17	4	0	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:112998784G>C	ENST00000271277.6	+	6	895	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	224					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCAGCTGAGAGAAAGAG	0.507																																																	0													80	89	86					1																	112998784		2203	4300	6503	SO:0001583	missense	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.670G>C	1.37:g.112998784G>C	ENSP00000271277:p.Glu224Gln		B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.E224Q	ENST00000271277.6	37	c.670	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733865	0.69189	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.65178	-0.14;0.17	6.07	6.07	0.98685	.	0.043708	0.85682	D	0.000000	T	0.63896	0.2550	M	0.81112	2.525	0.58432	D	0.999999	D	0.59767	0.986	P	0.50659	0.647	T	0.68284	-0.5449	10	0.48119	T	0.1	-28.4728	11.8701	0.52515	0.1083:0.0:0.8917:0.0	.	224	Q9P2B4	CT2NL_HUMAN	Q	224	ENSP00000271277:E224Q;ENSP00000390976:E224Q	ENSP00000271277:E224Q	E	+	1	0	CTTNBP2NL	112800307	1.000000	0.71417	0.885000	0.34714	0.430000	0.31655	5.948000	0.70249	2.884000	0.98904	0.655000	0.94253	GAG	CTTNBP2NL	-	NULL		0.507	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	G	NM_018704		112998784	1	no_errors	ENST00000271277	ensembl	human	known	70_37	missense	SNP	0.998	C	C	112998784	G	C	112998784	3	2	74	1	0	0	0	0	1	0	0	0	4051	1291	45	1	684	1	CTTNBP2NL	1	112998784	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2829330	112998784	136251837	50	10745										
CAPZA1	829	genome.wustl.edu	37	chr1	113189878	113189878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcatgcacccccaggggaatTtaatgaagtattcaatggtg	10	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:113189878T>G	ENST00000263168.3	+	2	758	c.86T>G	c.(85-87)tTt>tGt	p.F29C	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	29					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGGGAATTTAATGAAGTA	0.318																																																	0													93	101	98					1																	113189878		2203	4300	6503	SO:0001583	missense	829			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.86T>G	1.37:g.113189878T>G	ENSP00000263168:p.Phe29Cys		Q53FQ6|Q6FHD5	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.F29C	ENST00000263168.3	37	c.86	CCDS30805.1	1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492725	0.84962	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	M	0.88105	2.93	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	D	0.85784	0.1363	9	0.87932	D	0	-33.9092	15.8935	0.79318	0.0:0.0:0.0:1.0	.	29	P52907	CAZA1_HUMAN	C	29	.	ENSP00000263168:F29C	F	+	2	0	CAPZA1	112991401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.558000	0.82253	2.288000	0.76882	0.528000	0.53228	TTT	CAPZA1	-	pfam_WASH_F-actin_cap_alpha		0.318	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	HGNC	protein_coding	OTTHUMT00000032567.2	T	NM_006135		113189878	1	no_errors	ENST00000263168	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113189878	T	G	113189878	3	3	74	1	0	0	0	0	1	0	0	0	2645	1841	64	5	92	5	CAPZA1	1	113189878	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	191094	113189878	136060743	51	10746										
FAM19A3	284467	genome.wustl.edu	37	chr1	113265740	113265740	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgaaatgctcctgtttttCtggccaggtggccggcacca	13	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:113265740C>T	ENST00000361886.3	+	3	277	c.218C>T	c.(217-219)tCt>tTt	p.S73F	FAM19A3_ENST00000369630.3_Missense_Mutation_p.S73F	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	73						extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTTTCTGGCCAGGTG	0.662																																																	0													37	34	35					1																	113265740		2203	4300	6503	SO:0001583	missense	284467			AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.218C>T	1.37:g.113265740C>T	ENSP00000355042:p.Ser73Phe		B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.S73F	ENST00000361886.3	37	c.218	CCDS856.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.320767	0.95682	.	.	ENSG00000184599	ENST00000369630;ENST00000361886	.	.	.	5.82	5.82	0.92795	.	0.325692	0.28436	N	0.015348	T	0.51907	0.1702	L	0.29908	0.895	0.48975	D	0.999733	P;P	0.49559	0.773;0.925	P;P	0.51355	0.58;0.667	T	0.57051	-0.7877	9	0.87932	D	0	-21.9486	19.6803	0.95960	0.0:1.0:0.0:0.0	.	73;73	Q7Z5A8;Q7Z5A8-2	F19A3_HUMAN;.	F	73	.	ENSP00000355042:S73F	S	+	2	0	FAM19A3	113067263	0.986000	0.35501	0.008000	0.14137	0.992000	0.81027	7.810000	0.86072	2.756000	0.94617	0.561000	0.74099	TCT	FAM19A3	-	pfam_Chemokine-like_FAM19A2		0.662	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A3	HGNC	protein_coding	OTTHUMT00000033255.1	C	NM_182759		113265740	1	no_errors	ENST00000369630	ensembl	human	known	70_37	missense	SNP	0.975	T	T	113265740	C	T	113265740	3	4	74	1	0	0	0	0	1	0	0	0	5548	913	32	1	224	1	FAM19A3	1	113265740	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	75862	113265740	135984881	52	10747										
AP4B1	10717	genome.wustl.edu	37	chr1	114442773	114442773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcaacaaaacagagctcacgGctctctgaagaacaggcagc	10	12	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:114442773G>A	ENST00000369569.1	-	5	1147	c.867C>T	c.(865-867)agC>agT	p.S289S	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Silent_p.S196S|AP4B1_ENST00000369567.1_Silent_p.S121S|AP4B1_ENST00000256658.4_Silent_p.S289S|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	289					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGCTCACGGCTCTCTGAAG	0.448																																																	0													74	81	79					1																	114442773		2203	4300	6503	SO:0001819	synonymous_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.867C>T	1.37:g.114442773G>A			B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.S289	ENST00000369569.1	37	c.867	CCDS865.1	1																																																																																			AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114442773	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114442773	G	A	114442773	2	1	74	1	0	0	0	0	0	0	0	1	751	1194	42	4		4	AP4B1	1	114442773	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1177033	114442773	134807848	53	10748										
WDR3	10885	genome.wustl.edu	37	chr1	118491107	118491107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acatgatggagctttgtggtCcatgtccctctctccagatc	9	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:118491107C>T	ENST00000349139.5	+	13	1549	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	501						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCTTTGTGGTCCATGTCCCTC	0.468																																																	0													114	107	109					1																	118491107		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1502C>T	1.37:g.118491107C>T	ENSP00000308179:p.Ser501Phe			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S501F	ENST00000349139.5	37	c.1502	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976423	0.92982	.	.	ENSG00000065183	ENST00000349139	T	0.65916	-0.18	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.094992	0.85682	D	0.000000	T	0.80964	0.4725	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.84135	0.0414	10	0.87932	D	0	-12.2613	19.5546	0.95338	0.0:1.0:0.0:0.0	.	501	Q9UNX4	WDR3_HUMAN	F	501	ENSP00000308179:S501F	ENSP00000308179:S501F	S	+	2	0	WDR3	118292630	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.752000	0.85141	2.622000	0.88805	0.655000	0.94253	TCC	WDR3	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	C	NM_006784		118491107	1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118491107	C	T	118491107	3	4	74	1	0	0	0	0	1	0	0	0	17316	855	30	1	1548	1	WDR3	1	118491107	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4048334	118491107	130759514	54	10749										
ZNF697	90874	genome.wustl.edu	37	chr1	120166704	120166704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttggtcatcctcttccccacGgacagaaacgccttcttcct	6	16	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:120166704G>A	ENST00000421812.2	-	3	381	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCTTCCCCACGGACAGAAACG	0.547																																																	0													55	61	59					1																	120166704		2073	4211	6284	SO:0001583	missense	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.262C>T	1.37:g.120166704G>A	ENSP00000396857:p.Arg88Cys		Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R88C	ENST00000421812.2	37	c.262	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093694	0.08632	.	.	ENSG00000143067	ENST00000421812	T	0.12774	2.65	4.62	3.63	0.41609	.	.	.	.	.	T	0.03348	0.0097	L	0.27053	0.805	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.30621	-0.9972	9	0.49607	T	0.09	.	12.164	0.54119	0.0:0.1741:0.8259:0.0	.	88	Q5TEC3	ZN697_HUMAN	C	88	ENSP00000396857:R88C	ENSP00000396857:R88C	R	-	1	0	ZNF697	119968227	.	.	0.008000	0.14137	0.005000	0.04900	.	.	2.302000	0.77476	0.462000	0.41574	CGT	ZNF697	-	NULL		0.547	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	G	XM_371286		120166704	-1	no_errors	ENST00000421812	ensembl	human	known	70_37	missense	SNP	0.002	A	A	120166704	G	A	120166704	3	1	74	1	0	0	0	0	1	0	0	0	18130	1116	39	2	1379	2	ZNF697	1	120166704	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1675597	120166704	129083917	55	10750										
NOTCH2	4853	genome.wustl.edu	37	chr1	120539657	120539657	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaaaagtgaagtcaccagtCtgccgacaggtgcctccatt	9	12	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:120539657C>G	ENST00000256646.2	-	4	933	c.714G>C	c.(712-714)caG>caC	p.Q238H	NOTCH2_ENST00000602566.1_Missense_Mutation_p.Q199H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	238	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCACCAGTCTGCCGACAGG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													39	32	34					1																	120539657		2202	4300	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.714G>C	1.37:g.120539657C>G	ENSP00000256646:p.Gln238His		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q238H	ENST00000256646.2	37	c.714	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394902	0.62066	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	D	0.87491	-2.26	5.83	3.89	0.44902	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.35970	U	0.002865	D	0.83608	0.5291	L	0.28649	0.875	0.58432	D	0.999994	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.83275	0.991;0.995;0.996	D	0.84308	0.0509	10	0.52906	T	0.07	.	8.2026	0.31434	0.0:0.7104:0.0:0.2896	.	199;238;238	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	H	238;199;211;199	ENSP00000256646:Q238H	ENSP00000256646:Q238H	Q	-	3	2	NOTCH2	120341180	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.693000	0.25497	0.721000	0.32231	0.585000	0.79938	CAG	NOTCH2	-	pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	C	NM_024408		120539657	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120539657	C	G	120539657	3	3	74	1	0	0	0	0	1	0	0	0	10572	912	32	1	6825	1	NOTCH2	1	120539657	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	372953	120539657	128710964	56	10751										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144904697	144904697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgtaaggcctcattgagcCgactccgttcatctactagt	8	12	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:144904697C>T	ENST00000369354.3	-	20	2804	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R872Q|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R1035Q|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R659Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R872Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R872Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1009Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R938Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1035Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1009Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	872					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCATTGAGCCGACTCCGTTC	0.448			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													153	155	155					1																	144904697		2203	4293	6496	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2615G>A	1.37:g.144904697C>T	ENSP00000358360:p.Arg872Gln		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R872Q	ENST00000369354.3	37	c.2615	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541289	0.65085	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12147	4.64;4.78;4.79;4.77;4.77;3.81;3.81;2.71;2.74;2.73	5.96	4.09	0.47781	.	.	.	.	.	T	0.14399	0.0348	L	0.32530	0.975	0.80722	D	1	P;P;P;P;D	0.89917	0.839;0.947;0.919;0.897;1.0	B;B;B;B;D	0.83275	0.127;0.197;0.184;0.267;0.996	T	0.03051	-1.1078	9	0.36615	T	0.2	.	11.579	0.50881	0.0:0.8508:0.0:0.1492	.	1035;872;1035;938;872	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	Q	938;872;872;1035;1009;1009;872;872;1035;1035;659	ENSP00000327209:R938Q;ENSP00000358360:R872Q;ENSP00000358363:R872Q;ENSP00000435654:R1009Q;ENSP00000358366:R1009Q;ENSP00000358357:R872Q;ENSP00000358355:R872Q;ENSP00000316434:R1035Q;ENSP00000433392:R1035Q;ENSP00000436791:R659Q	ENSP00000327209:R938Q	R	-	2	0	PDE4DIP	143616054	0.986000	0.35501	1.000000	0.80357	0.994000	0.84299	2.416000	0.44644	1.555000	0.49500	-0.131000	0.14894	CGG	PDE4DIP	-	NULL		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144904697	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144904697	C	T	144904697	3	4	74	1	0	0	0	0	1	0	0	0	11667	652	23	2	4535	2	PDE4DIP	1	144904697	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	24365040	144904697	104345924	57	10752										
TNFAIP8L2	79626	genome.wustl.edu	37	chr1	151131683	151131683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcactcagcaccttggcaaGatctgtgacggactcaggaa	10	11	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151131683G>C	ENST00000368910.3	+	2	636	c.510G>C	c.(508-510)aaG>aaC	p.K170N		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	170					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)		p.K170N(1)		lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTTGGCAAGATCTGTGACG	0.542																																																	1	Substitution - Missense(1)	lung(1)											39	38	38					1																	151131683		2203	4300	6503	SO:0001583	missense	79626			BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.510G>C	1.37:g.151131683G>C	ENSP00000357906:p.Lys170Asn		Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	pfam_DUF758	p.K170N	ENST00000368910.3	37	c.510	CCDS985.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657469	0.67586	.	.	ENSG00000163154	ENST00000368910	T	0.38722	1.12	5.36	5.36	0.76844	.	0.101452	0.64402	D	0.000005	T	0.39332	0.1074	L	0.43598	1.365	0.80722	D	1	D	0.56035	0.974	P	0.61592	0.891	T	0.06643	-1.0815	10	0.25751	T	0.34	-16.6556	11.4253	0.50007	0.0827:0.0:0.9173:0.0	.	170	Q6P589	TP8L2_HUMAN	N	170	ENSP00000357906:K170N	ENSP00000357906:K170N	K	+	3	2	TNFAIP8L2	149398307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.639000	0.37176	2.782000	0.95742	0.655000	0.94253	AAG	TNFAIP8L2	-	pfam_DUF758		0.542	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	TNFAIP8L2	HGNC	protein_coding	OTTHUMT00000034069.2	G	NM_024575		151131683	1	no_errors	ENST00000368910	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151131683	G	C	151131683	3	2	74	1	0	0	0	0	1	0	0	0	16308	933	33	1	512	1	TNFAIP8L2	1	151131683	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6226986	151131683	98118938	58	10753										
POGZ	23126	genome.wustl.edu	37	chr1	151400770	151400770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtaagagtggccgggatgaCggtggtgaaggtgttggtgg	22	3	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151400770C>T	ENST00000271715.2	-	6	1002	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	POGZ_ENST00000409503.1_Missense_Mutation_p.V230I|POGZ_ENST00000361398.3_Missense_Mutation_p.V177I|POGZ_ENST00000491586.1_Missense_Mutation_p.V177I|POGZ_ENST00000531094.1_Missense_Mutation_p.V177I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Missense_Mutation_p.V135I|POGZ_ENST00000392723.1_Missense_Mutation_p.V177I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	230					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V230I(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGGGATGACGGTGGTGAAG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											278	267	271					1																	151400770		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.688G>A	1.37:g.151400770C>T	ENSP00000271715:p.Val230Ile		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.V230I	ENST00000271715.2	37	c.688	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395206	0.83011	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000009	T	0.79822	0.4512	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.968;0.999;0.994;0.992;0.981;0.999	D;P;D;D;D;D;D	0.76071	0.972;0.854;0.987;0.965;0.952;0.931;0.972	D	0.83611	0.0134	10	0.72032	D	0.01	-17.3938	17.1134	0.86682	0.0:1.0:0.0:0.0	.	177;230;135;230;177;177;230	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	I	177;230;177;135;230;177;177;230	ENSP00000376484:V177I;ENSP00000271715:V230I;ENSP00000354467:V177I;ENSP00000357856:V135I;ENSP00000386836:V230I;ENSP00000431259:V177I;ENSP00000418408:V177I	ENSP00000271715:V230I	V	-	1	0	POGZ	149667394	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.878000	0.56130	2.615000	0.88500	0.467000	0.42956	GTC	POGZ	-	NULL		0.587	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	C	NM_207171		151400770	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	0.998	T	T	151400770	C	T	151400770	3	4	74	1	0	0	0	0	1	0	0	0	12210	536	19	2	3614	2	POGZ	1	151400770	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	269087	151400770	97849851	59	10754										
LINGO4	339398	genome.wustl.edu	37	chr1	151774280	151774280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggcgtagctcctggagccGcaccagggggctgagccttc	15	14	0	1	rs369398419		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151774280G>A	ENST00000368820.3	-	2	1838	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	301						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTGGAGCCGCACCAGGGGG	0.612																																																	0													55	60	58					1																	151774280		2203	4300	6503	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.901C>T	1.37:g.151774280G>A	ENSP00000357810:p.Arg301Trp			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R301W	ENST00000368820.3	37	c.901	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374743	0.61735	.	.	ENSG00000213171	ENST00000368820	T	0.58940	0.3	5.51	5.51	0.81932	.	0.000000	0.45126	D	0.000381	T	0.68238	0.2979	M	0.70108	2.13	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	T	0.71059	-0.4702	10	0.87932	D	0	.	11.7875	0.52051	0.0:0.0:0.8251:0.1749	.	301	Q6UY18	LIGO4_HUMAN	W	301	ENSP00000357810:R301W	ENSP00000357810:R301W	R	-	1	2	LINGO4	150040904	0.982000	0.34865	0.999000	0.59377	0.953000	0.61014	1.716000	0.37981	2.873000	0.98535	0.561000	0.74099	CGG	LINGO4	-	smart_Leu-rich_rpt_typical-subtyp		0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	G	XM_291387		151774280	-1	no_errors	ENST00000368820	ensembl	human	known	70_37	missense	SNP	0.996	A	A	151774280	G	A	151774280	3	1	74	1	0	0	0	0	1	0	0	0	8838	1086	38	2	884	2	LINGO4	1	151774280	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	373510	151774280	97476341	60	10755										
RORC	6097	genome.wustl.edu	37	chr1	151785499	151785499	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaggcacttagggagtgggaGaagtcaaagatggagctgat	16	4	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151785499G>A	ENST00000318247.6	-	9	1316	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	RORC_ENST00000356728.6_Silent_p.F382F|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.F457F	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	403	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGTGGGAGAAGTCAAAGA	0.552																																																	0													101	82	89					1																	151785499		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1209C>T	1.37:g.151785499G>A			Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.F457	ENST00000318247.6	37	c.1371	CCDS1004.1	1																																																																																			RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.552	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151785499	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	silent	SNP	1.000	A	A	151785499	G	A	151785499	2	1	74	1	0	0	0	0	0	0	0	1	13560	933	33	1		1	RORC	1	151785499	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11219	151785499	97465122	61	10756										
TCHHL1	126637	genome.wustl.edu	37	chr1	152059991	152059991	+	Frame_Shift_Del	DEL	T	T	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caatattcagaagatttgaaTttttttccacagcatgaagg							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:152059991delT	ENST00000368806.1	-	3	231	c.167delA	c.(166-168)aatfs	p.N56fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	56	EF-hand.						calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAGATTTGAATTTTTTTCCAC	0.368																																																	0													48	46	47					1																	152059991		2203	4300	6503	SO:0001589	frameshift_variant	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.167delA	1.37:g.152059991delT	ENSP00000357796:p.Asn56fs		B2RPK8|Q5VTJ9	Frame_Shift_Del	DEL	pfam_S100_Ca-bd_sub	p.N56fs	ENST00000368806.1	37	c.167	CCDS30857.1	1																																																																																			TCHHL1	-	NULL		0.368	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	T	XM_060104		152059991	-1	no_errors	ENST00000368806	ensembl	human	known	70_37	frame_shift_del	DEL	0.002	-	-	152059991	T	-	152059991	7	5	74	1	0	1	0	1	0	0	0	0	15731	1493	52	0	2551	0	TCHHL1	1	152059991	Frame_Shift_Del	DEL	T	TCGA-EA-A3HU-01A-11D-A20U-09	274492	152059991	97190630	62	10757										
HRNR	388697	genome.wustl.edu	37	chr1	152188861	152188861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaaagacagaagagtgaccCgagcgagactcatatgggcc	12	11	1	5	rs201735593		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:152188861C>T	ENST00000368801.2	-	3	5319	c.5244G>A	c.(5242-5244)tcG>tcA	p.S1748S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1748					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCCGAGCGAGACT	0.587																																																	0													1	1	1					1																	152188861		382	899	1281	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5244G>A	1.37:g.152188861C>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1748	ENST00000368801.2	37	c.5244	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188861	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	T	T	152188861	C	T	152188861	2	4	74	1	0	0	0	0	0	0	0	1	7379	639	23	2		2	HRNR	1	152188861	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	128870	152188861	97061760	63	10758										
NPR1	4881	genome.wustl.edu	37	chr1	153661549	153661549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggagaagcgcaaggctgaGgccctgctctaccagatcct	13	12	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:153661549G>T	ENST00000368680.3	+	16	3010	c.2538G>T	c.(2536-2538)gaG>gaT	p.E846D		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	846					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCAAGGCTGAGGCCCTGCTCT	0.622																																					Pancreas(141;1349 1870 15144 15830 40702)												0													129	117	121					1																	153661549		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2538G>T	1.37:g.153661549G>T	ENSP00000357669:p.Glu846Asp		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.E846D	ENST00000368680.3	37	c.2538	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592182	0.46214	.	.	ENSG00000169418	ENST00000368680;ENST00000428723;ENST00000368677	D	0.83335	-1.71	3.35	2.43	0.29744	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.067482	0.56097	D	0.000030	T	0.56077	0.1961	L	0.31526	0.94	0.54753	D	0.999988	P;P	0.49307	0.553;0.922	B;B	0.42653	0.32;0.394	T	0.56390	-0.7987	10	0.12766	T	0.61	.	8.8927	0.35444	0.1145:0.0:0.8855:0.0	.	325;846	B7Z4Y7;P16066	.;ANPRA_HUMAN	D	846;325;27	ENSP00000357669:E846D	ENSP00000357666:E27D	E	+	3	2	NPR1	151928173	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.476000	0.45171	0.990000	0.38787	0.455000	0.32223	GAG	NPR1	-	smart_A/G_cyclase		0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153661549	1	no_errors	ENST00000368680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153661549	G	T	153661549	3	4	74	1	0	0	0	0	1	0	0	0	10618	991	35	4	2600	4	NPR1	1	153661549	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1472688	153661549	95589072	64	10759										
NPR1	4881	genome.wustl.edu	37	chr1	153665869	153665869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tactggctccttggggagagGgggagtagcacccgaggctg	18	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:153665869G>A	ENST00000368680.3	+	22	3637	c.3165G>A	c.(3163-3165)agG>agA	p.R1055R		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	1055					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGGGGAGAGGGGGAGTAGCA	0.617																																					Pancreas(141;1349 1870 15144 15830 40702)												0													72	71	71					1																	153665869		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3165G>A	1.37:g.153665869G>A			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.R1055	ENST00000368680.3	37	c.3165	CCDS1051.1	1																																																																																			NPR1	-	NULL		0.617	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153665869	1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	0.975	A	A	153665869	G	A	153665869	2	1	74	1	0	0	0	0	0	0	0	1	10618	1223	43	4		4	NPR1	1	153665869	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4320	153665869	95584752	65	10760										
C1orf189	388701	genome.wustl.edu	37	chr1	154178094	154178094	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgtcgaccgtcttcttaagTcccatggccttttgaaaact	7	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:154178094T>C	ENST00000368525.3	-	2	79	c.54A>G	c.(52-54)ggA>ggG	p.G18G	C1orf43_ENST00000483282.1_5'Flank	NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	18										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCTTCTTAAGTCCCATGGCCT	0.453																																																	0													150	134	139					1																	154178094		2203	4300	6503	SO:0001819	synonymous_variant	388701				CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.54A>G	1.37:g.154178094T>C			A1L4E3	Silent	SNP	NULL	p.G18	ENST00000368525.3	37	c.54	CCDS30876.1	1																																																																																			C1orf189	-	NULL		0.453	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf189	HGNC	protein_coding	OTTHUMT00000087672.1	T	NM_001010979		154178094	-1	no_errors	ENST00000368525	ensembl	human	known	70_37	silent	SNP	0.003	C	C	154178094	T	C	154178094	2	2	74	1	0	0	0	0	0	0	0	1	2027	1654	58	5		5	C1orf189	1	154178094	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	512225	154178094	95072527	66	10761										
CLK2	1196	genome.wustl.edu	37	chr1	155238500	155238500	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gttacgatttggcttgtacaTcgctcttgtagccagtcccc	9	12	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:155238500T>A	ENST00000368361.4	-	4	801	c.486A>T	c.(484-486)cgA>cgT	p.R162R	CLK2_ENST00000361168.5_Splice_Site_p.R161R|CLK2_ENST00000536801.1_Splice_Site_p.R162R|CLK2_ENST00000355560.4_Splice_Site_p.R160R|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	162					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTTGTACATCGCTCTTGTA	0.562								Other conserved DNA damage response genes																																									0													140	112	122					1																	155238500		2203	4300	6503	SO:0001630	splice_region_variant	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.487+1A>T	1.37:g.155238500T>A			B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R162	ENST00000368361.4	37	c.486		1																																																																																			CLK2	-	superfamily_Kinase-like_dom		0.562	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	T	NM_003993	Silent	155238500	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155238500	T	A	155238500	5	1	74	1	0	0	0	0	0	0	1	0	3542	1449	50	5	1053	5	CLK2	1	155238500	Splice_Site	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1060406	155238500	94012121	67	10762										
GON4L	54856	genome.wustl.edu	37	chr1	155823435	155823435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacttggatcccaggatagtGacaccgaactcaagtcctta	9	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:155823435G>A	ENST00000368331.1	-	2	185	c.137C>T	c.(136-138)tCa>tTa	p.S46L	GON4L_ENST00000437809.1_Missense_Mutation_p.S46L|GON4L_ENST00000271883.5_Missense_Mutation_p.S46L|GON4L_ENST00000361040.5_Missense_Mutation_p.S46L|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	46					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGATAGTGACACCGAACT	0.473																																																	0													192	168	176					1																	155823435		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.137C>T	1.37:g.155823435G>A	ENSP00000357315:p.Ser46Leu		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.S46L	ENST00000368331.1	37	c.137		1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186706	0.38609	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.21734	2.15;2.15;2.15;1.99	4.38	3.46	0.39613	.	0.466390	0.16128	N	0.228312	T	0.17831	0.0428	L	0.34521	1.04	0.09310	N	1	D;D;D	0.61080	0.989;0.981;0.989	D;D;D	0.75020	0.985;0.966;0.985	T	0.04178	-1.0971	10	0.87932	D	0	.	8.015	0.30376	0.1121:0.0:0.8879:0.0	.	46;46;46	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	L	46	ENSP00000396117:S46L;ENSP00000357315:S46L;ENSP00000271883:S46L;ENSP00000354322:S46L	ENSP00000271883:S46L	S	-	2	0	GON4L	154090059	0.062000	0.20869	0.005000	0.12908	0.292000	0.27327	2.731000	0.47343	1.038000	0.40049	0.561000	0.74099	TCA	GON4L	-	NULL		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155823435	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.020	A	A	155823435	G	A	155823435	3	1	74	1	0	0	0	0	1	0	0	0	6591	1294	45	1	6826	1	GON4L	1	155823435	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	584935	155823435	93427186	68	10763										
SMG5	23381	genome.wustl.edu	37	chr1	156236369	156236369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatgccgggacgggattctcGccctcttccagctcagcctg	11	15	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156236369G>A	ENST00000361813.5	-	11	1362	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	406					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CGGGATTCTCGCCCTCTTCCA	0.562																																																	0													108	97	101					1																	156236369		2203	4300	6503	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1218C>T	1.37:g.156236369G>A			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.G406	ENST00000361813.5	37	c.1218	CCDS1137.1	1																																																																																			SMG5	-	NULL		0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	G	NM_015327		156236369	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	silent	SNP	0.948	A	A	156236369	G	A	156236369	2	1	74	1	0	0	0	0	0	0	0	1	14826	1074	38	2		2	SMG5	1	156236369	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	412934	156236369	93014252	69	10764										
CCT3	7203	genome.wustl.edu	37	chr1	156288730	156288730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agggttcttgatatagcgccGcatacgtggatgggtcacat	13	8	2	1	rs375964353		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156288730G>A	ENST00000295688.3	-	8	968	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	CCT3_ENST00000368259.2_Missense_Mutation_p.R192W|CCT3_ENST00000368261.3_Missense_Mutation_p.R185W|CCT3_ENST00000472765.2_Missense_Mutation_p.R185W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	230					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATATAGCGCCGCATACGTGGA	0.463																																																	0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96	89	92		574,688	3	1	1		92	0,8600		0,0,4300	no	missense,missense	CCT3	NM_001008800.2,NM_005998.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	192/508,230/546	156288730	1,13005	2203	4300	6503	SO:0001583	missense	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.688C>T	1.37:g.156288730G>A	ENSP00000295688:p.Arg230Trp		A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.R230W	ENST00000295688.3	37	c.688	CCDS1140.2	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046230	0.75846	2.27E-4	0.0	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.94	2.99	0.34606	.	0.062472	0.64402	D	0.000010	D	0.86552	0.5960	H	0.95328	3.655	0.52099	D	0.99994	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.921;0.878;0.986	D	0.86203	0.1620	10	0.72032	D	0.01	-5.9132	5.998	0.19505	0.1614:0.0:0.6878:0.1508	.	192;229;230	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	W	230;192;185;185;254;229	ENSP00000295688:R230W;ENSP00000357242:R192W;ENSP00000357244:R185W;ENSP00000431543:R185W;ENSP00000413308:R254W;ENSP00000434232:R229W	ENSP00000295688:R230W	R	-	1	2	CCT3	154555354	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.423000	0.52756	0.823000	0.34589	0.643000	0.83706	CGG	CCT3	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma		0.463	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	G	NM_005998		156288730	-1	no_errors	ENST00000295688	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156288730	G	A	156288730	3	1	74	1	0	0	0	0	1	0	0	0	2959	1086	38	2	977	2	CCT3	1	156288730	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	52361	156288730	92961891	70	10765										
C1orf92	149499	genome.wustl.edu	37	chr1	156901741	156901741	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctactgaggtggtcaaccctCtcctggagcctgtggagcac	12	13	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156901741C>T	ENST00000337428.7	+	13	1517	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	455										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GGTCAACCCTCTCCTGGAGCC	0.527																																																	0													66	70	69					1																	156901741		1987	4153	6140	SO:0001583	missense	149499			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1363C>T	1.37:g.156901741C>T	ENSP00000336661:p.Leu455Phe		Q96M24	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L455F	ENST00000337428.7	37	c.1363	CCDS44249.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620768	0.87460	.	.	ENSG00000160838	ENST00000337428	T	0.38887	1.11	5.68	5.68	0.88126	.	0.000000	0.44902	D	0.000420	T	0.47395	0.1443	L	0.32530	0.975	0.47584	D	0.999462	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.49551	-0.8928	10	0.72032	D	0.01	-26.0456	16.7107	0.85384	0.0:1.0:0.0:0.0	.	455;241	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	F	455	ENSP00000336661:L455F	ENSP00000336661:L455F	L	+	1	0	LRRC71	155168365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.511000	0.67024	2.668000	0.90789	0.563000	0.77884	CTC	LRRC71	-	NULL		0.527	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	C	NM_144702		156901741	1	no_errors	ENST00000337428	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156901741	C	T	156901741	3	4	74	1	0	0	0	0	1	0	0	0	2074	913	32	1	1413	1	C1orf92	1	156901741	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	613011	156901741	92348880	71	10766										
ETV3L	440695	genome.wustl.edu	37	chr1	157067741	157067741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgctgtcctgtcagctgctCcaccatggcctgatgggcaa	11	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157067741C>T	ENST00000454449.2	-	4	810	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	176					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GTCAGCTGCTCCACCATGGCC	0.602																																																	0													69	67	68					1																	157067741		2203	4300	6503	SO:0001583	missense	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.526G>A	1.37:g.157067741C>T	ENSP00000430271:p.Glu176Lys			Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E176K	ENST00000454449.2	37	c.526	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096153	0.20552	.	.	ENSG00000253831	ENST00000454449	T	0.09445	2.98	3.61	2.68	0.31781	.	.	.	.	.	T	0.01765	0.0056	N	0.24115	0.695	0.09310	N	0.999994	B	0.23650	0.089	B	0.17433	0.018	T	0.46735	-0.9170	9	0.14252	T	0.57	.	6.3338	0.21285	0.0:0.8607:0.0:0.1393	.	176	Q6ZN32	ETV3L_HUMAN	K	176	ENSP00000430271:E176K	ENSP00000430271:E176K	E	-	1	0	ETV3L	155334365	0.630000	0.27155	0.597000	0.28824	0.049000	0.14656	1.055000	0.30467	1.050000	0.40346	0.555000	0.69702	GAG	ETV3L	-	NULL		0.602	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	HGNC	protein_coding	OTTHUMT00000099024.2	C	NM_001004341		157067741	-1	no_errors	ENST00000454449	ensembl	human	known	70_37	missense	SNP	0.637	T	T	157067741	C	T	157067741	3	4	74	1	0	0	0	0	1	0	0	0	5292	864	30	1	567	1	ETV3L	1	157067741	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	166000	157067741	92182880	72	10767										
FCRL4	83417	genome.wustl.edu	37	chr1	157559012	157559012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acctgaagaaaagagcaagcGcacagggttacttcgtgggg	14	8	0	3	rs138448208		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157559012G>A	ENST00000271532.1	-	3	424	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	97	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAGAGCAAGCGCACAGGGTTA	0.502																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67	73	71		289	-8.4	0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCRL4	NM_031282.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	97/516	157559012	2,13004	2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.289C>T	1.37:g.157559012G>A	ENSP00000271532:p.Arg97Cys		Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R97C	ENST00000271532.1	37	c.289	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424917	0.25639	2.27E-4	1.16E-4	ENSG00000163518	ENST00000271532	T	0.13778	2.56	4.2	-8.41	0.00961	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.085590	0.00616	N	0.000432	T	0.10809	0.0264	M	0.79614	2.46	0.09310	N	1	P	0.41643	0.758	P	0.51453	0.67	T	0.32719	-0.9896	10	0.56958	D	0.05	.	5.6523	0.17622	0.3936:0.0:0.1332:0.4732	.	97	Q96PJ5	FCRL4_HUMAN	C	97	ENSP00000271532:R97C	ENSP00000271532:R97C	R	-	1	0	FCRL4	155825636	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-3.423000	0.00476	-2.214000	0.00734	0.557000	0.71058	CGC	FCRL4	-	smart_Ig_sub,pfscan_Ig-like		0.502	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	G	NM_031282		157559012	-1	no_errors	ENST00000271532	ensembl	human	known	70_37	missense	SNP	0.000	A	A	157559012	G	A	157559012	3	1	74	1	0	0	0	0	1	0	0	0	5815	1087	38	2	1298	2	FCRL4	1	157559012	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	491271	157559012	91691609	73	10768										
FCRL1	115350	genome.wustl.edu	37	chr1	157769850	157769850	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtgaaaacaggcctcacctGagtggatccctggctgaacg	12	11	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157769850G>T	ENST00000368176.3	-	7	1096	c.1029C>A	c.(1027-1029)ctC>ctA	p.L343L	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Silent_p.L304L|FCRL1_ENST00000491942.1_Silent_p.L343L	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCCTCACCTGAGTGGATCCC	0.388																																					GBM(54;482 1003 11223 30131 35730)												0													96	87	90					1																	157769850		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1029C>A	1.37:g.157769850G>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L343	ENST00000368176.3	37	c.1029	CCDS1170.1	1																																																																																			FCRL1	-	NULL		0.388	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	G	NM_052938		157769850	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	silent	SNP	0.973	T	T	157769850	G	T	157769850	2	4	74	1	0	0	0	0	0	0	0	1	5812	1277	45	3		3	FCRL1	1	157769850	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	210838	157769850	91480771	74	10769										
CD5L	922	genome.wustl.edu	37	chr1	157805798	157805798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taggggttccgctggcagctCcacagcccagctcccggcac	12	17	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157805798C>T	ENST00000368174.4	-	3	299	c.203G>A	c.(202-204)gGa>gAa	p.G68E	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	68	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTGGCAGCTCCACAGCCCAG	0.562																																																	0													151	155	154					1																	157805798		2203	4300	6503	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.203G>A	1.37:g.157805798C>T	ENSP00000357156:p.Gly68Glu		A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.G68E	ENST00000368174.4	37	c.203	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942893	0.73672	.	.	ENSG00000073754	ENST00000368174	T	0.37411	1.2	4.85	4.85	0.62838	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.312596	0.23017	N	0.052895	T	0.59169	0.2174	M	0.86343	2.81	0.47584	D	0.999465	D	0.89917	1.0	D	0.91635	0.999	T	0.65890	-0.6058	10	0.66056	D	0.02	.	15.5102	0.75776	0.0:1.0:0.0:0.0	.	68	O43866	CD5L_HUMAN	E	68	ENSP00000357156:G68E	ENSP00000357156:G68E	G	-	2	0	CD5L	156072422	1.000000	0.71417	0.732000	0.30844	0.323000	0.28346	5.528000	0.67129	2.503000	0.84419	0.563000	0.77884	GGA	CD5L	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.562	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	C	NM_005894		157805798	-1	no_errors	ENST00000368174	ensembl	human	known	70_37	missense	SNP	0.989	T	T	157805798	C	T	157805798	3	4	74	1	0	0	0	0	1	0	0	0	3032	855	30	1	856	1	CD5L	1	157805798	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	35948	157805798	91444823	75	10770										
SPTA1	6708	genome.wustl.edu	37	chr1	158606460	158606460	+	Frame_Shift_Del	DEL	C	C	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggctcatgggccaccagctCcccctctaggcgtttgtgct							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:158606460delC	ENST00000368147.4	-	37	5461	c.5281delG	c.(5281-5283)gagfs	p.E1761fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1761					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCACCAGCTCCCCCTCTAGG	0.463																																																	0													108	106	107					1																	158606460		1869	4101	5970	SO:0001589	frameshift_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5281delG	1.37:g.158606460delC	ENSP00000357129:p.Glu1761fs		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E1761fs	ENST00000368147.4	37	c.5281	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	C	NM_003126		158606460	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	158606460	C	-	158606460	7	5	74	1	0	1	0	1	0	0	0	0	15146	864	30	0	2042	0	SPTA1	1	158606460	Frame_Shift_Del	DEL	C	TCGA-EA-A3HU-01A-11D-A20U-09	800662	158606460	90644161	76	10771										
CD244	51744	genome.wustl.edu	37	chr1	160801171	160801171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaagttctccagctctttgCggctcaatcgagcagggttc	10	12	3	0	rs369311545		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:160801171C>T	ENST00000368033.3	-	9	1161	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.R355H|CD244_ENST00000322302.7_Missense_Mutation_p.R263H			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	360					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGCTCTTTGCGGCTCAATCG	0.463																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	152	146	148		1079,788,1064	0.9	0.8	1		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CD244	NM_001166663.1,NM_001166664.1,NM_016382.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	360/371,263/274,355/366	160801171	1,13005	2203	4300	6503	SO:0001583	missense	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.1079G>A	1.37:g.160801171C>T	ENSP00000357012:p.Arg360His		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like	p.R360H	ENST00000368033.3	37	c.1079	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655040	0.67472	0.0	1.16E-4	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302	T;T;T	0.56941	2.29;1.6;0.43	3.83	0.857	0.19025	.	0.498586	0.17226	N	0.182158	T	0.41073	0.1143	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.80764	0.58;0.987;0.994	T	0.45948	-0.9226	10	0.87932	D	0	-22.146	3.1532	0.06495	0.2098:0.5643:0.0:0.2259	.	263;360;355	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	H	355;360;263	ENSP00000357013:R355H;ENSP00000357012:R360H;ENSP00000313619:R263H	ENSP00000313619:R263H	R	-	2	0	CD244	159067795	0.038000	0.19896	0.765000	0.31456	0.407000	0.30961	-0.489000	0.06490	0.195000	0.20347	0.563000	0.77884	CGC	CD244	-	NULL		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	C	NM_016382		160801171	-1	no_errors	ENST00000368033	ensembl	human	known	70_37	missense	SNP	0.803	T	T	160801171	C	T	160801171	3	4	74	1	0	0	0	0	1	0	0	0	2992	768	27	2	37	2	CD244	1	160801171	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2194711	160801171	88449450	77	10772										
F11R	50848	genome.wustl.edu	37	chr1	160970817	160970817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaagcaactcacctgtgatCttgttattatagcaaacgag	8	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:160970817C>G	ENST00000368026.6	-	3	508	c.234G>C	c.(232-234)aaG>aaC	p.K78N	F11R_ENST00000537746.1_Missense_Mutation_p.K78N|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	78	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACCTGTGATCTTGTTATTAT	0.498																																																	0													116	104	108					1																	160970817		2203	4300	6503	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.234G>C	1.37:g.160970817C>G	ENSP00000357005:p.Lys78Asn		B7Z941	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K82N	ENST00000368026.6	37	c.246	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617342	0.46736	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.66099	-0.19;0.34;-0.19	4.84	2.97	0.34412	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.190001	0.44285	D	0.000478	T	0.52451	0.1735	L	0.60957	1.885	0.40155	D	0.976993	P;P;P;P;P	0.51449	0.734;0.918;0.945;0.945;0.945	P;P;P;P;P	0.56042	0.451;0.762;0.79;0.79;0.79	T	0.50972	-0.8764	10	0.25106	T	0.35	.	7.5959	0.28048	0.0:0.8049:0.0:0.1951	.	82;78;78;78;78	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	N	78;78;78;78;82	ENSP00000357005:K78N;ENSP00000440812:K78N;ENSP00000394809:K82N	ENSP00000289779:K78N	K	-	3	2	F11R	159237441	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	1.197000	0.32211	0.633000	0.30452	0.563000	0.77884	AAG	F11R	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.498	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	C	NM_016946		160970817	-1	no_errors	ENST00000436182	ensembl	human	known	70_37	missense	SNP	1.000	G	G	160970817	C	G	160970817	3	3	74	1	0	0	0	0	1	0	0	0	5350	912	32	1	697	1	F11R	1	160970817	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	169646	160970817	88279804	78	10773										
CD247	919	genome.wustl.edu	37	chr1	167487676	167487676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aactgtgcctgcaggatggcCgcggtgaaaagcgccttcca	13	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:167487676C>T	ENST00000362089.5	-	1	99	c.27G>A	c.(25-27)gcG>gcA	p.A9A	CD247_ENST00000392122.3_Silent_p.A9A|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	9					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	GCAGGATGGCCGCGGTGAAAA	0.577																																					Ovarian(192;1815 2869 36877 43334)												0													95	88	91					1																	167487676		2203	4300	6503	SO:0001819	synonymous_variant	919			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"CD molecules"	1677	protein-coding gene	gene with protein product		186780	"CD3z antigen, zeta polypeptide (TiT3 complex)", "CD247 antigen"	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.27G>A	1.37:g.167487676C>T			B1AK49|Q5VX13|Q8TAX4	Silent	SNP	pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.A9	ENST00000362089.5	37	c.27	CCDS1261.1	1																																																																																			CD247	-	NULL		0.577	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	C	NM_198053		167487676	-1	no_errors	ENST00000362089	ensembl	human	known	70_37	silent	SNP	0.000	T	T	167487676	C	T	167487676	2	4	74	1	0	0	0	0	0	0	0	1	2993	639	23	2		2	CD247	1	167487676	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6516859	167487676	81762945	79	10774										
C1orf114	57821	genome.wustl.edu	37	chr1	169391436	169391436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaatgatgtcatttcttcttGgtgagacctcatcctgcaaa	7	9	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:169391436G>C	ENST00000367806.3	-	3	385	c.233C>G	c.(232-234)cCa>cGa	p.P78R	CCDC181_ENST00000367805.3_Missense_Mutation_p.P78R|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.P78R	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	78						nucleus (GO:0005634)											ATTTCTTCTTGGTGAGACCTC	0.393																																																	0													89	80	83					1																	169391436		2203	4300	6503	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.233C>G	1.37:g.169391436G>C	ENSP00000356780:p.Pro78Arg		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.P78R	ENST00000367806.3	37	c.233		1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443064	0.25987	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.23348	1.92;1.92;1.92;1.91	5.07	3.2	0.36748	.	0.947380	0.08937	N	0.872128	T	0.12518	0.0304	M	0.65975	2.015	0.39332	D	0.965438	P;P;P	0.42203	0.542;0.773;0.773	B;B;B	0.42422	0.252;0.387;0.387	T	0.32851	-0.9891	9	0.44086	T	0.13	0.1813	1.9547	0.03374	0.1592:0.1183:0.4309:0.2916	.	78;78;78	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	R	78	ENSP00000356779:P78R;ENSP00000356780:P78R;ENSP00000442297:P78R;ENSP00000411000:P78R	ENSP00000356779:P78R	P	-	2	0	C1orf114	167658060	0.090000	0.21635	0.887000	0.34795	0.693000	0.40251	0.346000	0.19997	0.547000	0.28938	0.563000	0.77884	CCA	C1orf114	-	NULL		0.393	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	G	NM_021179		169391436	-1	no_errors	ENST00000367806	ensembl	human	known	70_37	missense	SNP	0.184	C	C	169391436	G	C	169391436	3	2	74	1	0	0	0	0	1	0	0	0	1992	1348	47	4	1309	4	C1orf114	1	169391436	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1903760	169391436	79859185	80	10775										
SLC9A11	284525	genome.wustl.edu	37	chr1	173506101	173506101	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttccttggatggagtaataGcattttgctgcaccaattaa	8	7	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:173506101G>T	ENST00000367714.3	-	14	2057	c.1635C>A	c.(1633-1635)tgC>tgA	p.C545*	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.C443*	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	545					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TGGAGTAATAGCATTTTGCTG	0.299																																																	0													144	146	145					1																	173506101		2203	4299	6502	SO:0001587	stop_gained	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1635C>A	1.37:g.173506101G>T	ENSP00000356687:p.Cys545*		Q86UF3	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.C545*	ENST00000367714.3	37	c.1635	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.873360	0.97049	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.52	2.55	0.30701	.	0.348665	0.27946	N	0.017215	.	.	.	.	.	.	0.48975	A	0.999732	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-4.6545	5.3322	0.15938	0.1722:0.0:0.6666:0.1612	.	.	.	.	X	545;443	.	ENSP00000356687:C545X	C	-	3	2	SLC9A11	171772724	1.000000	0.71417	0.291000	0.24904	0.002000	0.02628	2.268000	0.43338	0.262000	0.21774	-0.441000	0.05720	TGC	SLC9C2	-	NULL		0.299	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	G	NM_178527		173506101	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	nonsense	SNP	0.890	T	T	173506101	G	T	173506101	4	4	74	1	0	0	0	0	0	1	0	0	14741	963	34	4	1799	4	SLC9A11	1	173506101	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4114665	173506101	75744520	81	10776										
SLC9A11	284525	genome.wustl.edu	37	chr1	173551050	173551050	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttagtcagcatattgctaaaAacgtcagccaatatacactg	6	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:173551050A>T	ENST00000367714.3	-	7	1160	c.738T>A	c.(736-738)gtT>gtA	p.V246V	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.V144V	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	246					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TATTGCTAAAAACGTCAGCCA	0.323																																																	0													113	102	106					1																	173551050		2203	4299	6502	SO:0001819	synonymous_variant	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.738T>A	1.37:g.173551050A>T			Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V246	ENST00000367714.3	37	c.738	CCDS1308.1	1																																																																																			SLC9C2	-	pfam_Cation/H_exchanger		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	A	NM_178527		173551050	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	silent	SNP	0.248	T	T	173551050	A	T	173551050	2	4	74	1	0	0	0	0	0	0	0	1	14741	1	1	5		5	SLC9A11	1	173551050	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	44949	173551050	75699571	82	10777										
ANGPTL1	9068	genome.wustl.edu	37	chr1	178822736	178822736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcactgatttaccttataaTtttcccaatttctgaagaag	4	8	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:178822736T>G	ENST00000234816.2	-	4	1457	c.1010A>C	c.(1009-1011)aAt>aCt	p.N337T	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.N337T|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	337	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TACCTTATAATTTTCCCAATT	0.383																																																	0													70	70	70					1																	178822736		2203	4298	6501	SO:0001583	missense	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1010A>C	1.37:g.178822736T>G	ENSP00000234816:p.Asn337Thr		Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.N337T	ENST00000234816.2	37	c.1010	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	T	4.078	0.012446	0.07912	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	T;T	0.81415	-1.49;-1.49	6.07	6.07	0.98685	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.087641	0.85682	D	0.000000	T	0.58206	0.2106	N	0.04959	-0.14	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.56171	-0.8023	10	0.12766	T	0.61	.	7.6082	0.28113	0.0:0.0718:0.1428:0.7853	.	337	O95841	ANGL1_HUMAN	T	337	ENSP00000234816:N337T;ENSP00000356601:N337T	ENSP00000234816:N337T	N	-	2	0	ANGPTL1	177089359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	2.330000	0.79161	0.528000	0.53228	AAT	ANGPTL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	T	NM_004673		178822736	-1	no_errors	ENST00000234816	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178822736	T	G	178822736	3	3	74	1	0	0	0	0	1	0	0	0	613	1493	52	5	477	5	ANGPTL1	1	178822736	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	5271686	178822736	70427885	83	10778										
CACNA1E	777	genome.wustl.edu	37	chr1	181706769	181706769	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcggcagaggaccccgtcctGaccaactcggagcgcaacaa	12	15	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:181706769G>T	ENST00000367573.2	+	23	3531	c.3531G>T	c.(3529-3531)ctG>ctT	p.L1177L	CACNA1E_ENST00000367567.4_Silent_p.L784L|CACNA1E_ENST00000367570.1_Silent_p.L1177L|CACNA1E_ENST00000360108.3_Silent_p.L1158L|CACNA1E_ENST00000358338.5_Silent_p.L1109L|CACNA1E_ENST00000526775.1_Silent_p.L1158L|CACNA1E_ENST00000357570.5_Silent_p.L1128L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1177					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)			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						ACCCCGTCCTGACCAACTCGG	0.612																																																	0													97	103	101					1																	181706769		2061	4220	6281	SO:0001819	synonymous_variant	777			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.3531G>T	1.37:g.181706769G>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.L1177	ENST00000367573.2	37	c.3531	CCDS55664.1	1																																																																																			CACNA1E	-	NULL		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181706769	1	no_errors	ENST00000367573	ensembl	human	known	70_37	silent	SNP	0.974	T	T	181706769	G	T	181706769	2	4	74	1	0	0	0	0	0	0	0	1	2547	1277	45	3		3	CACNA1E	1	181706769	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2884033	181706769	67543852	84	10779										
RNF2	6045	genome.wustl.edu	37	chr1	185069364	185069364	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctttttctttggaattggtCagtgagaaatactggaaagt	10	4	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:185069364C>T	ENST00000367510.3	+	7	1230	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RNF2_ENST00000367509.4_Silent_p.V242V	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	314					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGAATTGGTCAGTGAGAAAT	0.318																																																	0													56	58	58					1																	185069364		2203	4299	6502	SO:0001819	synonymous_variant	6045			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.942C>T	1.37:g.185069364C>T			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V314	ENST00000367510.3	37	c.942	CCDS1365.1	1																																																																																			RNF2	-	NULL		0.318	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1	C	NM_007212		185069364	1	no_errors	ENST00000367510	ensembl	human	known	70_37	silent	SNP	1.000	T	T	185069364	C	T	185069364	2	4	74	1	0	0	0	0	0	0	0	1	13502	813	29	1		1	RNF2	1	185069364	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3362595	185069364	64181257	85	10780										
C1orf26	54823	genome.wustl.edu	37	chr1	185130004	185130004	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagaatcctgtgggaaaaaaGagacatctcagaggaaagac	11	6	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:185130004G>C	ENST00000367500.4	+	2	196	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	SWT1_ENST00000367501.3_Missense_Mutation_p.E11Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	11										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGGGAAAAAAGAGACATCTCA	0.318																																																	0													82	84	84					1																	185130004		2203	4300	6503	SO:0001583	missense	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.31G>C	1.37:g.185130004G>C	ENSP00000356470:p.Glu11Gln		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.E11Q	ENST00000367500.4	37	c.31	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114200	0.37339	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.49139	0.79;0.79;0.79	5.28	5.28	0.74379	.	0.141591	0.33023	N	0.005366	T	0.46405	0.1391	L	0.53249	1.67	0.31019	N	0.718356	D	0.54601	0.967	B	0.43623	0.425	T	0.58329	-0.7655	10	0.52906	T	0.07	.	14.2852	0.66243	0.0:0.0:1.0:0.0	.	11	Q5T5J6	SWT1_HUMAN	Q	11	ENSP00000356471:E11Q;ENSP00000356470:E11Q;ENSP00000401413:E11Q	ENSP00000356470:E11Q	E	+	1	0	SWT1	183396627	0.997000	0.39634	0.822000	0.32727	0.260000	0.26232	1.724000	0.38064	2.741000	0.93983	0.585000	0.79938	GAG	SWT1	-	NULL		0.318	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	G	NM_017673		185130004	1	no_errors	ENST00000367500	ensembl	human	known	70_37	missense	SNP	0.789	C	C	185130004	G	C	185130004	3	2	74	1	0	0	0	0	1	0	0	0	2040	943	33	1	33	1	C1orf26	1	185130004	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	60640	185130004	64120617	86	10781										
HMCN1	83872	genome.wustl.edu	37	chr1	186062323	186062324	+	Frame_Shift_Ins	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcttacatctgacacggggINSaaatacacatgtgttgctac							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:186062323_186062324insA	ENST00000271588.4	+	65	10174_10175	c.9945_9946insA	c.(9946-9948)aaafs	p.K3316fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.K3316fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3316	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACACGGGGAAATACACATG	0.401																																																	0																																										SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9948dupA	1.37:g.186062326_186062326dupA	ENSP00000271588:p.Lys3316fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Y3316fs	ENST00000271588.4	37	c.9945_9946	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.401	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	NM_031935		186062324	1	no_errors	ENST00000271588	ensembl	human	known	70_37	frame_shift_ins	INS	0.992:1.000	A	A	186062324	-	A	186062323	7	5	74	1	0	1	1	0	0	0	0	0	7240	1161	41	0	10203	0	HMCN1	1	186062323	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	932319	186062323	63188298	87	10782										
PRG4	10216	genome.wustl.edu	37	chr1	186280599	186280599	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtactggcgttttaccaatGatataaaagatgcagggtac	10	6	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:186280599G>A	ENST00000445192.2	+	10	3709	c.3664G>A	c.(3664-3666)Gat>Aat	p.D1222N	PRG4_ENST00000367483.4_Missense_Mutation_p.D1181N|PRG4_ENST00000367486.3_Missense_Mutation_p.D1179N|PRG4_ENST00000367484.3_Missense_Mutation_p.D751N|PRG4_ENST00000367485.4_Missense_Mutation_p.D1129N|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1222					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTTACCAATGATATAAAAGA	0.353																																																	0													81	93	89					1																	186280599		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3664G>A	1.37:g.186280599G>A	ENSP00000399679:p.Asp1222Asn		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.D1222N	ENST00000445192.2	37	c.3664	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462310	0.43736	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.02140	4.43;4.43;4.43;4.43;4.43	4.95	4.04	0.47022	Hemopexin/matrixin (2);	0.138838	0.32161	N	0.006490	T	0.07052	0.0179	L	0.33137	0.985	0.32227	N	0.574496	D;D;D;D	0.76494	0.994;0.994;0.999;0.994	D;D;D;D	0.83275	0.973;0.973;0.996;0.988	T	0.04467	-1.0949	10	0.87932	D	0	-10.196	13.4762	0.61310	0.0762:0.0:0.9238:0.0	.	1088;1129;1222;1181	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	1179;751;1181;1129;1222	ENSP00000356456:D1179N;ENSP00000356454:D751N;ENSP00000356453:D1181N;ENSP00000356455:D1129N;ENSP00000399679:D1222N	ENSP00000356453:D1181N	D	+	1	0	PRG4	184547222	1.000000	0.71417	0.912000	0.35992	0.845000	0.48019	6.142000	0.71750	1.220000	0.43490	-0.225000	0.12378	GAT	PRG4	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	G	NM_005807		186280599	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186280599	G	A	186280599	3	1	74	1	0	0	0	0	1	0	0	0	12508	1290	45	1	3698	1	PRG4	1	186280599	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	218276	186280599	62970022	88	10783										
KCNT2	343450	genome.wustl.edu	37	chr1	196309500	196309500	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caattatgctatgtacaggtAatctggaaggtccatgataa	9	6	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:196309500A>C	ENST00000294725.9	-	16	2669	c.1754T>G	c.(1753-1755)tTa>tGa	p.L585*	KCNT2_ENST00000451324.2_Nonsense_Mutation_p.L196*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.L535*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.L585*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.L535*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	585					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTACAGGTAATCTGGAAGG	0.294																																																	0													109	102	105					1																	196309500		2203	4300	6503	SO:0001587	stop_gained	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1754T>G	1.37:g.196309500A>C	ENSP00000294725:p.Leu585*		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.L585*	ENST00000294725.9	37	c.1754	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	36	5.893521	0.97074	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.84	5.84	0.93424	.	0.000000	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-13.2207	16.2047	0.82120	1.0:0.0:0.0:0.0	.	.	.	.	X	585;535;406;196;585	.	ENSP00000294725:L585X	L	-	2	0	KCNT2	194576123	1.000000	0.71417	0.646000	0.29493	0.996000	0.88848	9.280000	0.95786	2.220000	0.72140	0.528000	0.53228	TTA	KCNT2	-	NULL		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	A	NM_198503		196309500	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	nonsense	SNP	0.998	C	C	196309500	A	C	196309500	4	2	74	1	0	0	0	0	0	1	0	0	8112	372	13	5	1705	5	KCNT2	1	196309500	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	10028901	196309500	52941121	89	10784										
ASPM	259266	genome.wustl.edu	37	chr1	197091175	197091176	+	Splice_Site	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaataggtaataaccacctINSaaaaaaaacccacaaaagat					rs587783236		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:197091175_197091176insA	ENST00000367409.4	-	16	3998		c.e16-2		ASPM_ENST00000367408.1_Splice_Site|ASPM_ENST00000294732.7_Splice_Site	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACCC	0.302																																																	0									,	6,4244		1,4,2120					,	5.7	1			41	14,8222		0,14,4104	no	splice-3,splice-3	ASPM	NM_018136.4,NM_001206846.1	,	1,18,6224	A1A1,A1R,RR		0.17,0.1412,0.1602	,	,		20,12466				SO:0001630	splice_region_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3742-2->T	1.37:g.197091183_197091183dupA			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Splice_Site	INS	-	e16-2	ENST00000367409.4	37	c.3742-3_3742-2	CCDS1389.1	1																																																																																			ASPM	-	-		0.302	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	NM_018136	Intron	197091176	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.990	A	A	197091176	-	A	197091175	8	5	74	1	0	1	1	0	0	0	1	0	1057	1536	53	0	6745	0	ASPM	1	197091175	Splice_Site	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	781675	197091175	52159446	90	10785										
ASPM	259266	genome.wustl.edu	37	chr1	197112773	197112773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgttttctgttgggggaccGccttcattcatagccaagtt	10	9	3	0	rs587783255		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:197112773G>A	ENST00000367409.4	-	3	865	c.609C>T	c.(607-609)ggC>ggT	p.G203G	ASPM_ENST00000294732.7_Silent_p.G203G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	203					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGGGGGACCGCCTTCATTCA	0.368																																																	0													65	68	67					1																	197112773		2203	4300	6503	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.609C>T	1.37:g.197112773G>A			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.G203	ENST00000367409.4	37	c.609	CCDS1389.1	1																																																																																			ASPM	-	NULL		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197112773	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	0.000	A	A	197112773	G	A	197112773	2	1	74	1	0	0	0	0	0	0	0	1	1057	1074	38	2		2	ASPM	1	197112773	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	21598	197112773	52137848	91	10786										
PTPRC	5788	genome.wustl.edu	37	chr1	198711006	198711006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctcttgactagaaaaaagaAaaagcaactggaagagaggt	10	5	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:198711006A>C	ENST00000367376.2	+	24	2577	c.2406A>C	c.(2404-2406)gaA>gaC	p.E802D	PTPRC_ENST00000352140.3_Missense_Mutation_p.E754D|PTPRC_ENST00000594404.1_Missense_Mutation_p.E641D|PTPRC_ENST00000348564.6_Missense_Mutation_p.E643D|PTPRC_ENST00000442510.2_Missense_Mutation_p.E804D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	802	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAAAAAAGAAAAAGCAACTG	0.413																																																	0													36	37	36					1																	198711006		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2406A>C	1.37:g.198711006A>C	ENSP00000356346:p.Glu802Asp		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E804D	ENST00000367376.2	37	c.2412		1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.638769	0.67130	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.83755	-1.76	6.07	-0.84	0.10755	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49916	D	0.000128	T	0.80618	0.4657	N	0.21448	0.665	0.53005	D	0.999966	P;D;D	0.56746	0.937;0.977;0.977	D;D;D	0.66497	0.919;0.919;0.944	T	0.74973	-0.3481	10	0.30078	T	0.28	.	11.0659	0.47974	0.6544:0.0:0.3456:0.0	.	643;754;802	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	D	804;754;802;641	ENSP00000193532:E754D	ENSP00000306782:E641D	E	+	3	2	PTPRC	196977629	1.000000	0.71417	0.808000	0.32385	0.982000	0.71751	0.911000	0.28584	-0.055000	0.13244	0.533000	0.62120	GAA	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		A			198711006	1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	0.930	C	C	198711006	A	C	198711006	3	2	74	1	0	0	0	0	1	0	0	0	12827	11	1	5	2507	5	PTPRC	1	198711006	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1598233	198711006	50539615	92	10787										
CACNA1S	779	genome.wustl.edu	37	chr1	201030548	201030548	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctccacacggttgttgtaGatgggacccacgtcctccgc	10	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:201030548G>C	ENST00000362061.3	-	25	3328	c.3102C>G	c.(3100-3102)atC>atG	p.I1034M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1034M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1034	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTGTTGTAGATGGGACCCA	0.527																																																	0													196	165	176					1																	201030548		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3102C>G	1.37:g.201030548G>C	ENSP00000355192:p.Ile1034Met		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.I1034M	ENST00000362061.3	37	c.3102	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874319	0.33069	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96554	-4.05;-3.96	5.21	0.814	0.18756	Ion transport (1);	0.404030	0.29376	N	0.012335	D	0.93805	0.8019	M	0.75884	2.315	0.25394	N	0.988509	B	0.14438	0.01	B	0.24848	0.056	D	0.87817	0.2635	10	0.72032	D	0.01	.	2.9889	0.05977	0.1549:0.2551:0.459:0.131	.	1034	Q13698	CAC1S_HUMAN	M	1034	ENSP00000355192:I1034M;ENSP00000356307:I1034M	ENSP00000355192:I1034M	I	-	3	3	CACNA1S	199297171	1.000000	0.71417	0.845000	0.33349	0.829000	0.46940	1.109000	0.31135	0.196000	0.20367	0.561000	0.74099	ATC	CACNA1S	-	pfam_Ion_trans_dom		0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201030548	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	missense	SNP	0.997	C	C	201030548	G	C	201030548	3	2	74	1	0	0	0	0	1	0	0	0	2552	932	33	1	2599	1	CACNA1S	1	201030548	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2319542	201030548	48220073	93	10788										
PKP1	5317	genome.wustl.edu	37	chr1	201288982	201288982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggagcttctggctcttgttcCgcaaagggccactagtagca	12	11	2	0	rs41269939	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:201288982C>T	ENST00000352845.3	+	7	1271	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000367324.3_Intron|PKP1_ENST00000263946.3_Missense_Mutation_p.P424L			Q13835	PKP1_HUMAN	plakophilin 1	424					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCTCTTGTTCCGCAAAGGGCC	0.582																																																	0													79	80	80					1																	201288982		2203	4300	6503	SO:0001583	missense	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1271C>T	1.37:g.201288982C>T	ENSP00000295597:p.Pro424Leu		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P424L	ENST00000352845.3	37	c.1271	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	C	9.252	1.040922	0.19669	.	.	ENSG00000081277	ENST00000263946;ENST00000352845	T;T	0.74632	-0.86;-0.86	4.3	-4.07	0.03975	Armadillo-like helical (1);Armadillo-type fold (1);	3.108820	0.01753	U	0.030041	T	0.52273	0.1724	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.42531	-0.9446	10	0.34782	T	0.22	-8.9357	6.7906	0.23697	0.3491:0.3044:0.3465:0.0	.	424	Q13835	PKP1_HUMAN	L	424	ENSP00000263946:P424L;ENSP00000295597:P424L	ENSP00000263946:P424L	P	+	2	0	PKP1	199555605	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.397000	0.07269	-0.277000	0.09193	0.491000	0.48974	CCG	PKP1	-	superfamily_ARM-type_fold		0.582	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	C	NM_000299		201288982	1	no_errors	ENST00000263946	ensembl	human	known	70_37	missense	SNP	0.000	T	T	201288982	C	T	201288982	3	4	74	1	0	0	0	0	1	0	0	0	12008	652	23	2	1297	2	PKP1	1	201288982	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	258434	201288982	47961639	94	10789										
KLHL12	59349	genome.wustl.edu	37	chr1	202880319	202880319	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacagcctcaaagactggctCttcagaatccacctgtaaat	7	12	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:202880319C>G	ENST00000367261.3	-	5	798	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	KLHL12_ENST00000435533.3_Missense_Mutation_p.E232Q|KLHL12_ENST00000367259.1_5'Flank	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	194	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGACTGGCTCTTCAGAATCC	0.458																																																	0													149	139	143					1																	202880319		2203	4300	6503	SO:0001583	missense	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.580G>C	1.37:g.202880319C>G	ENSP00000356230:p.Glu194Gln		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E232Q	ENST00000367261.3	37	c.694	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.123107	0.94429	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.70749	-0.51;-0.51;-0.51	5.56	5.56	0.83823	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.991	D;D;D	0.83275	0.996;0.982;0.988	T	0.83164	-0.0097	10	0.87932	D	0	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	232;232;194	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	Q	194;232;232	ENSP00000356230:E194Q;ENSP00000416886:E232Q;ENSP00000356227:E232Q	ENSP00000356227:E232Q	E	-	1	0	KLHL12	201146942	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.445000	0.80570	2.778000	0.95560	0.655000	0.94253	GAG	KLHL12	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.458	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	C	NM_021633		202880319	-1	no_errors	ENST00000435533	ensembl	human	known	70_37	missense	SNP	1.000	G	G	202880319	C	G	202880319	3	3	74	1	0	0	0	0	1	0	0	0	8388	922	32	1	1158	1	KLHL12	1	202880319	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1591337	202880319	46370302	95	10790										
REN	5972	genome.wustl.edu	37	chr1	204129706	204129706	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acggtgatgatgtcctggctGagaaagccactgactgtccc	12	11	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:204129706G>A	ENST00000272190.8	-	4	502	c.474C>T	c.(472-474)ctC>ctT	p.L158L	REN_ENST00000367195.2_Silent_p.L158L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	158					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGTCCTGGCTGAGAAAGCCAC	0.577																																																	0													178	147	158					1																	204129706		2203	4300	6503	SO:0001819	synonymous_variant	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.474C>T	1.37:g.204129706G>A			Q6FI38|Q6T5C2	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.L158	ENST00000272190.8	37	c.474	CCDS30981.1	1																																																																																			REN	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.577	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	G	NM_000537		204129706	-1	no_errors	ENST00000272190	ensembl	human	known	70_37	silent	SNP	0.763	A	A	204129706	G	A	204129706	2	1	74	1	0	0	0	0	0	0	0	1	13254	1277	45	1		1	REN	1	204129706	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1249387	204129706	45120915	96	10791										
REN	5972	genome.wustl.edu	37	chr1	204131240	204131240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaagcctggccatgtccacAcctcgttccttcaggctttc	7	17	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:204131240A>G	ENST00000272190.8	-	2	178	c.150T>C	c.(148-150)ggT>ggC	p.G50G	REN_ENST00000367195.2_Silent_p.G50G	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	50					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCATGTCCACACCTCGTTCCT	0.552											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													166	134	145					1																	204131240		2203	4300	6503	SO:0001819	synonymous_variant	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.150T>C	1.37:g.204131240A>G		2142	Q6FI38|Q6T5C2	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.G50	ENST00000272190.8	37	c.150	CCDS30981.1	1																																																																																			REN	-	pfam_Propep_A1,superfamily_Peptidase_aspartic		0.552	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	A	NM_000537		204131240	-1	no_errors	ENST00000272190	ensembl	human	known	70_37	silent	SNP	0.120	G	G	204131240	A	G	204131240	2	3	74	1	0	0	0	0	0	0	0	1	13254	146	6	5		5	REN	1	204131240	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1534	204131240	45119381	97	10792										
CD46	4179	genome.wustl.edu	37	chr1	207940452	207940452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcaacagttatgtttgaatgCgataagggtttttacctcga	10	6	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:207940452C>T	ENST00000358170.2	+	6	924	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CD46_ENST00000322918.5_Silent_p.C256C|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Silent_p.C193C|CD46_ENST00000480003.1_Silent_p.C256C|CD46_ENST00000360212.2_Silent_p.C256C|CD46_ENST00000357714.1_Silent_p.C256C|CD46_ENST00000367041.1_Silent_p.C256C|CD46_ENST00000354848.1_Silent_p.C256C|CD46_ENST00000441839.2_Silent_p.C256C|CD46_ENST00000367042.1_Silent_p.C256C|CD46_ENST00000322875.4_Silent_p.C256C|CD46_ENST00000361067.1_Silent_p.C256C	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	256	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGTTTGAATGCGATAAGGGTT	0.388																																																	0													106	102	104					1																	207940452		2203	4300	6503	SO:0001819	synonymous_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.768C>T	1.37:g.207940452C>T			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP	p.C256	ENST00000358170.2	37	c.768	CCDS1485.1	1																																																																																			CD46	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP		0.388	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	C	NM_172361		207940452	1	no_errors	ENST00000322875	ensembl	human	known	70_37	silent	SNP	0.000	T	T	207940452	C	T	207940452	2	4	74	1	0	0	0	0	0	0	0	1	3023	776	27	2		2	CD46	1	207940452	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3809212	207940452	41310169	98	10793										
RPS6KC1	26750	genome.wustl.edu	37	chr1	213414589	213414589	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaagaacatcagattccctCagtagatcaaaaaatagccc	5	12	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:213414589C>T	ENST00000366960.3	+	11	1920	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	RPS6KC1_ENST00000366959.3_Silent_p.L578L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.L378L|RPS6KC1_ENST00000543354.1_Silent_p.L293L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	590					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGATTCCCTCAGTAGATCAA	0.458																																																	0													43	45	44					1																	213414589		2203	4300	6503	SO:0001819	synonymous_variant	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1770C>T	1.37:g.213414589C>T			B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.L590	ENST00000366960.3	37	c.1770	CCDS1513.1	1																																																																																			RPS6KC1	-	NULL		0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	C	NM_012424		213414589	1	no_errors	ENST00000366960	ensembl	human	known	70_37	silent	SNP	0.997	T	T	213414589	C	T	213414589	2	4	74	1	0	0	0	0	0	0	0	1	13688	813	29	1		1	RPS6KC1	1	213414589	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5474137	213414589	35836032	99	10794										
USH2A	7399	genome.wustl.edu	37	chr1	215847796	215847796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgtttccaagcctgtatatAcaatggttccatccctccta	6	12	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:215847796A>G	ENST00000307340.3	-	63	13843	c.13457T>C	c.(13456-13458)gTa>gCa	p.V4486A	USH2A_ENST00000366943.2_Missense_Mutation_p.V4486A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4486	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTGTATATACAATGGTTCC	0.453										HNSCC(13;0.011)																																							0													161	160	160					1																	215847796		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13457T>C	1.37:g.215847796A>G	ENSP00000305941:p.Val4486Ala		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V4486A	ENST00000307340.3	37	c.13457	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540500	0.45176	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56941	0.43;0.43	4.41	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.206537	0.23844	U	0.044012	T	0.65312	0.2679	M	0.85945	2.785	0.19575	N	0.999963	P	0.50819	0.939	P	0.51453	0.67	T	0.61192	-0.7112	10	0.25751	T	0.34	.	13.9406	0.64052	1.0:0.0:0.0:0.0	.	4486	O75445	USH2A_HUMAN	A	4486	ENSP00000305941:V4486A;ENSP00000355910:V4486A	ENSP00000305941:V4486A	V	-	2	0	USH2A	213914419	0.975000	0.34042	0.009000	0.14445	0.154000	0.21943	7.107000	0.77047	1.754000	0.51921	0.383000	0.25322	GTA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	A	NM_007123		215847796	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.196	G	G	215847796	A	G	215847796	3	3	74	1	0	0	0	0	1	0	0	0	17067	391	14	5	2191	5	USH2A	1	215847796	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2433207	215847796	33402825	100	10795										
USH2A	7399	genome.wustl.edu	37	chr1	215987235	215987235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttggggttatagagcactccGttacaacaaacctgaaagtt	9	8	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:215987235G>A	ENST00000307340.3	-	49	9968	c.9582C>T	c.(9580-9582)aaC>aaT	p.N3194N	USH2A_ENST00000366943.2_Silent_p.N3194N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3194	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGCACTCCGTTACAACAAA	0.358										HNSCC(13;0.011)																																							0													80	75	76					1																	215987235		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9582C>T	1.37:g.215987235G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N3194	ENST00000307340.3	37	c.9582	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215987235	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	0.415	A	A	215987235	G	A	215987235	2	1	74	1	0	0	0	0	0	0	0	1	17067	1136	40	2		2	USH2A	1	215987235	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	139439	215987235	33263386	101	10796										
MIA3	375056	genome.wustl.edu	37	chr1	222802912	222802912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaagcaagcaagaaactagtAtgattttggatagcgaaaaa	9	4	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:222802912A>T	ENST00000344922.5	+	4	2375	c.2350A>T	c.(2350-2352)Atg>Ttg	p.M784L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.M784L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	784					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAACTAGTATGATTTTGGA	0.458																																																	0													72	65	67					1																	222802912		1862	4110	5972	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2350A>T	1.37:g.222802912A>T	ENSP00000340900:p.Met784Leu		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.M784L	ENST00000344922.5	37	c.2350	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.745|6.745	0.506235|0.506235	0.12883|0.12883	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.04502|.	3.61;3.61|.	4.36|4.36	-2.27|-2.27	0.06846|0.06846	.|.	.|.	.|.	.|.	.|.	T|T	0.21674|0.21674	0.0522|0.0522	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.003;0.01|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.27468|0.27468	-1.0073|-1.0073	9|5	0.23302|.	T|.	0.38|.	.|.	3.0008|3.0008	0.06012|0.06012	0.3274:0.1228:0.4152:0.1346|0.3274:0.1228:0.4152:0.1346	.|.	784;784|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	L|F	784|366	ENSP00000340900:M784L;ENSP00000340587:M784L|.	ENSP00000325973:M784L|.	M|Y	+|+	1|2	0|0	MIA3|MIA3	220869535|220869535	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.318000|-0.318000	0.08050|0.08050	-0.383000|-0.383000	0.07858|0.07858	-0.464000|-0.464000	0.05259|0.05259	ATG|TAT	MIA3	-	NULL		0.458	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	A	NM_198551		222802912	1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.000	T	T	222802912	A	T	222802912	3	4	74	1	0	0	0	0	1	0	0	0	9588	449	16	5	2364	5	MIA3	1	222802912	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	6815677	222802912	26447709	102	10797										
AIDA	64853	genome.wustl.edu	37	chr1	222846664	222846664	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggattacaaacctttggttaAtttttcaacatgcttctgga	7	7	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:222846664A>T	ENST00000340020.6	-	8	903	c.697T>A	c.(697-699)Tta>Ata	p.L233I	AIDA_ENST00000541237.1_Missense_Mutation_p.L209I|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Intron	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	233					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)		p.L233L(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTTTGGTTAATTTTTCAACA	0.348																																																	1	Substitution - coding silent(1)	large_intestine(1)											66	64	65					1																	222846664		2203	4299	6502	SO:0001583	missense	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.697T>A	1.37:g.222846664A>T	ENSP00000339161:p.Leu233Ile		A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	pfam_AIDA,superfamily_AIDA_N	p.L233I	ENST00000340020.6	37	c.697	CCDS1533.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007791	0.75046	.	.	ENSG00000186063	ENST00000340020;ENST00000541237	.	.	.	5.85	3.55	0.40652	.	0.065362	0.64402	D	0.000006	T	0.58278	0.2111	M	0.63843	1.955	0.50039	D	0.999844	B;B	0.23249	0.082;0.037	B;B	0.29267	0.061;0.1	T	0.55360	-0.8153	9	0.62326	D	0.03	.	8.1536	0.31156	0.689:0.0:0.311:0.0	.	209;233	F5H715;Q96BJ3	.;AIDA_HUMAN	I	233;209	.	ENSP00000339161:L233I	L	-	1	2	AIDA	220913287	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	1.195000	0.32186	0.489000	0.27749	0.460000	0.39030	TTA	AIDA	-	pfam_AIDA		0.348	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	A	NM_022831		222846664	-1	no_errors	ENST00000340020	ensembl	human	known	70_37	missense	SNP	1.000	T	T	222846664	A	T	222846664	3	4	74	1	0	0	0	0	1	0	0	0	423	98	4	5	235	5	AIDA	1	222846664	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	43752	222846664	26403957	103	10798										
C1orf58	148362	genome.wustl.edu	37	chr1	222903491	222903491	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accttgtgaagaacaccctaGaaaaatgtcagagagaaaat	8	7	1	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:222903491G>C	ENST00000340934.5	+	11	1367	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	BROX_ENST00000539697.1_Missense_Mutation_p.E289Q|BROX_ENST00000537020.1_Missense_Mutation_p.E321Q	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	321	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GAACACCCTAGAAAAATGTCA	0.299																																																	0													67	66	66					1																	222903491		2203	4299	6502	SO:0001583	missense	148362				CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"BRO1 domain containing protein"		"chromosome 1 open reading frame 58"	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.961G>C	1.37:g.222903491G>C	ENSP00000343742:p.Glu321Gln		B7Z9G5|Q96MG1	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.E321Q	ENST00000340934.5	37	c.961	CCDS1534.1	1	.	.	.	.	.	.	.	.	.	.	g	16.00	2.997863	0.54147	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	T;T;T	0.19394	2.15;2.15;2.15	6.01	5.09	0.68999	BRO1 domain (3);	0.089937	0.85682	D	0.000000	T	0.19604	0.0471	L	0.35854	1.095	0.80722	D	1	B;B;B	0.18863	0.025;0.031;0.009	B;B;B	0.19148	0.009;0.024;0.01	T	0.02179	-1.1200	10	0.29301	T	0.29	0.8027	16.6787	0.85286	0.0:0.0:0.8692:0.1308	.	321;289;321	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	Q	321;321;289	ENSP00000343742:E321Q;ENSP00000440041:E321Q;ENSP00000441080:E289Q	ENSP00000343742:E321Q	E	+	1	0	BROX	220970114	1.000000	0.71417	0.845000	0.33349	0.872000	0.50106	9.466000	0.97665	1.537000	0.49254	-0.188000	0.12872	GAA	BROX	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.299	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	BROX	HGNC	protein_coding	OTTHUMT00000091815.2	G	NM_144695		222903491	1	no_errors	ENST00000340934	ensembl	human	known	70_37	missense	SNP	0.999	C	C	222903491	G	C	222903491	3	2	74	1	0	0	0	0	1	0	0	0	2055	943	33	1	999	1	C1orf58	1	222903491	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	56827	222903491	26347130	104	10799										
SUSD4	55061	genome.wustl.edu	37	chr1	223536672	223536672	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccagctgaaaccacaggatCacggccaagagtctctgggg	13	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:223536672C>G	ENST00000343846.3	-	1	729	c.96G>C	c.(94-96)gtG>gtC	p.V32V	SUSD4_ENST00000494793.2_Silent_p.V32V|SUSD4_ENST00000366878.4_Silent_p.V32V|SUSD4_ENST00000344029.6_Silent_p.V32V|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366877.3_Silent_p.V32V|SUSD4_ENST00000484758.2_Silent_p.V32V|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	32						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACCACAGGATCACGGCCAAGA	0.607																																																	0													36	35	35					1																	223536672		2203	4299	6502	SO:0001819	synonymous_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.96G>C	1.37:g.223536672C>G			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V32	ENST00000343846.3	37	c.96	CCDS41471.1	1																																																																																			SUSD4	-	NULL		0.607	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223536672	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	silent	SNP	1.000	G	G	223536672	C	G	223536672	2	3	74	1	0	0	0	0	0	0	0	1	15440	813	29	1		1	SUSD4	1	223536672	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	633181	223536672	25713949	105	10800										
C1orf65	164127	genome.wustl.edu	37	chr1	223568631	223568631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcgcctcccaacagctcccTtgatcagatggtactagagg	10	13	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:223568631T>G	ENST00000366875.3	+	1	1917	c.1814T>G	c.(1813-1815)cTt>cGt	p.L605R		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		605										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAGCTCCCTTGATCAGATG	0.577																																																	0													49	49	49					1																	223568631		2203	4300	6503	SO:0001583	missense	164127																														ENST00000366875.3:c.1814T>G	1.37:g.223568631T>G	ENSP00000355840:p.Leu605Arg		Q8N746|Q8NA93	Missense_Mutation	SNP	NULL	p.L605R	ENST00000366875.3	37	c.1814	CCDS1537.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147316	0.57151	.	.	ENSG00000178395	ENST00000366875	T	0.24151	1.87	5.61	1.75	0.24633	.	.	.	.	.	T	0.19805	0.0476	N	0.19112	0.55	0.21915	N	0.999474	P	0.48503	0.911	P	0.47941	0.562	T	0.10064	-1.0646	9	0.51188	T	0.08	.	6.5236	0.22289	0.2687:0.0:0.14:0.5914	.	605	Q8N715	CA065_HUMAN	R	605	ENSP00000355840:L605R	ENSP00000355840:L605R	L	+	2	0	C1orf65	221635254	0.979000	0.34478	0.001000	0.08648	0.020000	0.10135	2.278000	0.43426	0.023000	0.15187	0.533000	0.62120	CTT	C1orf65	-	NULL		0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	T			223568631	1	no_errors	ENST00000366875	ensembl	human	known	70_37	missense	SNP	0.659	G	G	223568631	T	G	223568631	3	3	74	1	0	0	0	0	1	0	0	0	2060	1609	56	5	1816	5	C1orf65	1	223568631	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	31959	223568631	25681990	106	10801										
LIN9	286826	genome.wustl.edu	37	chr1	226420843	226420843	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgatatcatttaatgagtCtgtaagtgatttgaattcaa	7	4	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:226420843C>G	ENST00000328205.5	-	14	2070	c.1525G>C	c.(1525-1527)Gac>Cac	p.D509H	LIN9_ENST00000481685.1_Missense_Mutation_p.D474H|LIN9_ENST00000366801.1_Missense_Mutation_p.D458H	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	493					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTAATGAGTCTGTAAGTGAT	0.294																																					Ovarian(197;1696 2974 11248 14117)												0													74	83	80					1																	226420843		2202	4291	6493	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1525G>C	1.37:g.226420843C>G	ENSP00000329102:p.Asp509His		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.D509H	ENST00000328205.5	37	c.1525	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202580	0.58234	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.965	D;D;P	0.64144	0.921;0.922;0.795	T	0.78411	-0.2214	9	0.72032	D	0.01	.	19.4424	0.94825	0.0:1.0:0.0:0.0	.	474;493;643	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	H	469;509;564;458;474	.	ENSP00000329102:D509H	D	-	1	0	LIN9	224487466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.546000	0.67243	2.599000	0.87857	0.655000	0.94253	GAC	LIN9	-	NULL		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226420843	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	G	G	226420843	C	G	226420843	3	3	74	1	0	0	0	0	1	0	0	0	8834	913	32	1	159	1	LIN9	1	226420843	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2852212	226420843	22829778	107	10802										
CABC1	56997	genome.wustl.edu	37	chr1	227170711	227170711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttggcccgaatgaagggcggCcgcgaggtggccatgaagat	17	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:227170711C>T	ENST00000366779.1	+	13	3827	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	ADCK3_ENST00000366777.3_Silent_p.G352G|ADCK3_ENST00000458507.2_Silent_p.G73G|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Silent_p.G300G|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	352	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGAAGGGCGGCCGCGAGGTGG	0.667																																																	0													14	19	18					1																	227170711		2187	4287	6474	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1056C>T	1.37:g.227170711C>T			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.G352	ENST00000366779.1	37	c.1056	CCDS1557.1	1																																																																																			ADCK3	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.667	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	C	NM_020247		227170711	1	no_errors	ENST00000366777	ensembl	human	known	70_37	silent	SNP	0.985	T	T	227170711	C	T	227170711	2	4	74	1	0	0	0	0	0	0	0	1	2532	726	26	4		4	CABC1	1	227170711	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	749868	227170711	22079910	108	10803										
HIST3H2BB	128312	genome.wustl.edu	37	chr1	228646059	228646059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttcgagcgcatcgccagcGaggcctcccgcctggcacac	11	18	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:228646059G>A	ENST00000369160.2	+	1	252	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	77					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				CATCGCCAGCGAGGCCTCCCG	0.637																																																	0													92	85	87					1																	228646059		2203	4300	6503	SO:0001583	missense	128312			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.229G>A	1.37:g.228646059G>A	ENSP00000375736:p.Glu77Lys		A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000369160.2	37	c.229	CCDS1574.1	1	.	.	.	.	.	.	.	.	.	.	.	35	5.588641	0.96590	.	.	ENSG00000196890	ENST00000369160	T	0.34472	1.36	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.46442	D	0.000292	T	0.57359	0.2048	M	0.89534	3.04	0.58432	D	0.999998	P	0.49447	0.924	P	0.52159	0.691	T	0.67377	-0.5686	10	0.54805	T	0.06	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	77	Q8N257	H2B3B_HUMAN	K	77	ENSP00000375736:E77K	ENSP00000375736:E77K	E	+	1	0	HIST3H2BB	226712682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.185000	0.77714	2.491000	0.84063	0.586000	0.80456	GAG	HIST3H2BB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.637	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2BB	HGNC	protein_coding	OTTHUMT00000096597.1	G	NM_175055		228646059	1	no_errors	ENST00000369160	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228646059	G	A	228646059	3	1	74	1	0	0	0	0	1	0	0	0	7203	1059	37	1	231	1	HIST3H2BB	1	228646059	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1475348	228646059	20604562	109	10804										
ACTA1	58	genome.wustl.edu	37	chr1	229567610	229567610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgatgtcacacttcatgatgCtgttgtaggtggtctcgtga	12	8	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:229567610C>T	ENST00000366684.3	-	6	950	c.848G>A	c.(847-849)aGc>aAc	p.S283N	ACTA1_ENST00000366683.2_Missense_Mutation_p.S195N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	283					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CTTCATGATGCTGTTGTAGGT	0.647																																																	0													157	139	145					1																	229567610		2203	4300	6503	SO:0001583	missense	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.848G>A	1.37:g.229567610C>T	ENSP00000355645:p.Ser283Asn		P02568|P99020|Q5T8M9	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S283N	ENST00000366684.3	37	c.848	CCDS1578.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715728|1.715728	0.30413|0.30413	.|.	.|.	ENSG00000143632|ENSG00000143632	ENST00000342787|ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	.|D;D	.|0.96041	.|-3.89;-3.89	4.46|4.46	3.53|3.53	0.40419|0.40419	.|.	.|0.086607	.|0.85682	.|D	.|0.000000	.|D	.|0.97955	.|0.9327	H|H	0.99979|0.99979	5.18|5.18	0.46849|0.46849	D|D	0.999226|0.999226	.|B	.|0.12630	.|0.006	.|B	.|0.23852	.|0.049	.|D	.|0.96153	.|0.9109	.|10	.|0.87932	.|D	.|0	.|.	14.4249|14.4249	0.67207|0.67207	0.0:0.8513:0.1487:0.0|0.0:0.8513:0.1487:0.0	.|.	.|283	.|P68133	.|ACTS_HUMAN	.|N	-1|283;193;195;248	.|ENSP00000355645:S283N;ENSP00000355644:S195N	.|ENSP00000312351:S193N	.|S	-|-	.|2	.|0	ACTA1|ACTA1	227634233|227634233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.551000|0.551000	0.35334|0.35334	3.092000|3.092000	0.50207|0.50207	1.071000|1.071000	0.40834|0.40834	-0.302000|-0.302000	0.09304|0.09304	.|AGC	ACTA1	-	pfam_Actin-like,smart_Actin-like		0.647	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	C	NM_001100		229567610	-1	no_errors	ENST00000366684	ensembl	human	known	70_37	missense	SNP	1.000	T	T	229567610	C	T	229567610	3	4	74	1	0	0	0	0	1	0	0	0	191	797	28	4	293	4	ACTA1	1	229567610	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	921551	229567610	19683011	110	10805										
NUP133	55746	genome.wustl.edu	37	chr1	229613359	229613359	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttaccctcagggacagactCagcccaccgtgggtcagatg	11	14	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:229613359C>T	ENST00000261396.3	-	13	1832	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	NUP133_ENST00000537506.1_Missense_Mutation_p.E565K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	581					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGACAGACTCAGCCCACCGT	0.413																																																	0													76	70	72					1																	229613359		2203	4300	6503	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1741G>A	1.37:g.229613359C>T	ENSP00000261396:p.Glu581Lys		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.E581K	ENST00000261396.3	37	c.1741	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.455535	0.96223	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.26067	1.8;1.76;1.81	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	T	0.29212	-1.0019	10	0.21540	T	0.41	-11.3249	19.5077	0.95125	0.0:1.0:0.0:0.0	.	581	Q8WUM0	NU133_HUMAN	K	581;581;581;565	ENSP00000261396:E581K;ENSP00000355640:E581K;ENSP00000443496:E565K	ENSP00000261396:E581K	E	-	1	0	NUP133	227679982	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.445000	0.80570	2.683000	0.91414	0.655000	0.94253	GAG	NUP133	-	NULL		0.413	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	C	NM_018230		229613359	-1	no_errors	ENST00000261396	ensembl	human	known	70_37	missense	SNP	1.000	T	T	229613359	C	T	229613359	3	4	74	1	0	0	0	0	1	0	0	0	10778	835	29	1	1785	1	NUP133	1	229613359	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	45749	229613359	19637262	111	10806										
PGBD5	79605	genome.wustl.edu	37	chr1	230493034	230493034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagctggaagaagtccacgGcactggcgctggggggcatc	17	10	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:230493034G>A	ENST00000525115.1	-	2	181	c.158C>T	c.(157-159)gCc>gTc	p.A53V	PGBD5_ENST00000321327.2_Missense_Mutation_p.A152V|PGBD5_ENST00000391860.1_Missense_Mutation_p.A7V			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	53						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GAAGTCCACGGCACTGGCGCT	0.572																																																	0													51	48	49					1																	230493034		2203	4300	6503	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.158C>T	1.37:g.230493034G>A	ENSP00000431404:p.Ala53Val		A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.A152V	ENST00000525115.1	37	c.455		1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133400	0.56828	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.19938	2.11;2.11;2.11	5.79	5.79	0.91817	.	0.048970	0.85682	D	0.000000	T	0.12008	0.0292	N	0.12182	0.205	0.58432	D	0.999995	B	0.18166	0.026	B	0.19946	0.027	T	0.19192	-1.0313	10	0.12103	T	0.63	-41.437	13.2502	0.60048	0.072:0.0:0.9279:0.0	.	53	Q8N414	PGBD5_HUMAN	V	7;152;53	ENSP00000375733:A7V;ENSP00000322530:A152V;ENSP00000431404:A53V	ENSP00000322530:A152V	A	-	2	0	PGBD5	228559657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.808000	0.75206	2.746000	0.94184	0.655000	0.94253	GCC	PGBD5	-	NULL		0.572	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	G	NM_024554		230493034	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	230493034	G	A	230493034	3	1	74	1	0	0	0	0	1	0	0	0	11808	1203	42	4	1233	4	PGBD5	1	230493034	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	879675	230493034	18757587	112	10807										
AGT	183	genome.wustl.edu	37	chr1	230846470	230846470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actctcattgtggatgacgaGgtggaaggggtgtatgtaca	15	5	1	1	rs41271499		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:230846470G>A	ENST00000366667.4	-	2	341	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	43			L -> F (associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499). {ECO:0000269|PubMed:7744780}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGATGACGAGGTGGAAGGGG	0.612													G|||	1	0.000199681	0	0	5008	,	,		17490	0		0	False		,,,				2504	0.001																0			GRCh37	CM950018	AGT	M	rs41271499	G	PHE/LEU	3,4403	6.2+/-15.9	0,3,2200	79	75	76		127	2.4	1	1	dbSNP_127	76	6,8594	4.3+/-15.6	0,6,4294	yes	missense	AGT	NM_000029.3	22	0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692	probably-damaging	43/486	230846470	9,12997	2203	4300	6503	SO:0001583	missense	183			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.127C>T	1.37:g.230846470G>A	ENSP00000355627:p.Leu43Phe		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn	p.L43F	ENST00000366667.4	37	c.127	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023752	0.54683	6.81E-4	6.98E-4	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.88664	-2.41	5.37	2.42	0.29668	.	0.150858	0.43919	D	0.000502	D	0.87830	0.6276	L	0.56769	1.78	0.58432	D	0.999995	P;D;P	0.71674	0.927;0.998;0.927	B;P;B	0.51016	0.254;0.656;0.254	D	0.85946	0.1461	10	0.87932	D	0	.	6.362	0.21433	0.213:0.0:0.6469:0.1402	rs41271499	43;43;43	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	F	43	ENSP00000355627:L43F	ENSP00000355627:L43F	L	-	1	0	AGT	228913093	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	0.588000	0.23924	0.729000	0.32403	0.561000	0.74099	CTC	AGT	-	prints_Angiotensngn		0.612	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	G	NM_000029		230846470	-1	no_errors	ENST00000366667	ensembl	human	known	70_37	missense	SNP	0.998	A	A	230846470	G	A	230846470	3	1	74	1	0	0	0	0	1	0	0	0	399	1000	35	4	1346	4	AGT	1	230846470	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	353436	230846470	18404151	113	10808										
EXOC8	149371	genome.wustl.edu	37	chr1	231472726	231472726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaaatacggctctcggggaAcataagcagcttgaacatgt	11	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:231472726A>C	ENST00000360394.2	-	1	852	c.766T>G	c.(766-768)Ttc>Gtc	p.F256V	SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.F252V|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	256	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCTCGGGGAACATAAGCAGC	0.512																																																	0													80	80	80					1																	231472726		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.766T>G	1.37:g.231472726A>C	ENSP00000353564:p.Phe256Val		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F256V	ENST00000360394.2	37	c.766	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377136	0.82682	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.76186	-1.0;-1.0	5.69	5.69	0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.77820	2.39	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.82412	-0.0470	10	0.16420	T	0.52	-21.0344	15.9478	0.79806	1.0:0.0:0.0:0.0	.	256	Q8IYI6	EXOC8_HUMAN	V	256;252	ENSP00000353564:F256V;ENSP00000355605:F252V	ENSP00000353564:F256V	F	-	1	0	EXOC8	229539349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.165000	0.68154	0.459000	0.35465	TTC	EXOC8	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.512	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		A	NM_175876		231472726	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	231472726	A	C	231472726	3	2	74	1	0	0	0	0	1	0	0	0	5323	43	2	5	1415	5	EXOC8	1	231472726	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	626256	231472726	17777895	114	10809										
KIAA1804	84451	genome.wustl.edu	37	chr1	233489616	233489616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatcggggcattgatggcctCgccgtggcttatggggtagc	16	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:233489616C>T	ENST00000366624.3	+	3	1311	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	MLK4_ENST00000366623.3_Silent_p.L350L	NM_032435.2	NP_115811.2																					TTGATGGCCTCGCCGTGGCTT	0.512																																																	0													118	107	111					1																	233489616		2203	4300	6503	SO:0001819	synonymous_variant	84451																														ENST00000366624.3:c.1050C>T	1.37:g.233489616C>T				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L350	ENST00000366624.3	37	c.1050	CCDS1598.1	1																																																																																			MLK4	-	pirsf_MAPKKK9/10/11,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,pfscan_Prot_kinase_cat_dom		0.512	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233489616	1	no_errors	ENST00000366624	ensembl	human	known	70_37	silent	SNP	0.025	T	T	233489616	C	T	233489616	2	4	74	1	0	0	0	0	0	0	0	1	8279	871	31	1		1	KIAA1804	1	233489616	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2016890	233489616	15761005	115	10810										
KCNK1	3775	genome.wustl.edu	37	chr1	233750203	233750203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgtgtcggtgctcagcaacGcctcgggcaactggaactgg	15	12	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:233750203G>A	ENST00000366621.3	+	1	454	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	96					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GCTCAGCAACGCCTCGGGCAA	0.662																																																	0													39	42	41					1																	233750203		2203	4300	6503	SO:0001583	missense	3775			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.286G>A	1.37:g.233750203G>A	ENSP00000355580:p.Ala96Thr		Q13307|Q5T5E8	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.A96T	ENST00000366621.3	37	c.286	CCDS1599.1	1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099509	0.56183	.	.	ENSG00000135750	ENST00000366621	T	0.28895	1.59	3.92	0.936	0.19488	Ion transport 2 (1);	0.120124	0.56097	N	0.000032	T	0.13372	0.0324	N	0.11673	0.155	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.16276	-1.0408	10	0.13853	T	0.58	.	9.0175	0.36179	0.2409:0.0:0.7591:0.0	.	96	O00180	KCNK1_HUMAN	T	96	ENSP00000355580:A96T	ENSP00000355580:A96T	A	+	1	0	KCNK1	231816826	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.954000	0.70298	-0.030000	0.13804	-0.482000	0.04802	GCC	KCNK1	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK		0.662	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1	G	NM_002245		233750203	1	no_errors	ENST00000366621	ensembl	human	known	70_37	missense	SNP	1.000	A	A	233750203	G	A	233750203	3	1	74	1	0	0	0	0	1	0	0	0	8078	1087	38	2	288	2	KCNK1	1	233750203	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	260587	233750203	15500418	116	10811										
RYR2	6262	genome.wustl.edu	37	chr1	237824116	237824116	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttttcttctctaggaaaaaGaaatttatcgctggccaatc	6	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:237824116G>A	ENST00000366574.2	+	56	8622	c.8305G>A	c.(8305-8307)Gaa>Aaa	p.E2769K	RYR2_ENST00000360064.6_Missense_Mutation_p.E2767K|RYR2_ENST00000542537.1_Missense_Mutation_p.E2753K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2769	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGGAAAAAGAAATTTATCG	0.358																																																	0													29	28	28					1																	237824116		1455	3277	4732	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8305G>A	1.37:g.237824116G>A	ENSP00000355533:p.Glu2769Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2767K	ENST00000366574.2	37	c.8299	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.219408	0.95139	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91464	-2.85;-2.85;-2.85	5.46	5.46	0.80206	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.93491	0.7923	L	0.52573	1.65	0.80722	D	1	D	0.65815	0.995	P	0.61800	0.894	D	0.93721	0.7033	10	0.72032	D	0.01	-15.6963	19.6764	0.95936	0.0:0.0:1.0:0.0	.	2769	Q92736	RYR2_HUMAN	K	2769;2767;2753	ENSP00000355533:E2769K;ENSP00000353174:E2767K;ENSP00000443798:E2753K	ENSP00000353174:E2767K	E	+	1	0	RYR2	235890739	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.350000	0.97070	2.715000	0.92844	0.563000	0.77884	GAA	RYR2	-	pfam_Ryanodine_rcpt		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237824116	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237824116	G	A	237824116	3	1	74	1	0	0	0	0	1	0	0	0	13799	943	33	1	8527	1	RYR2	1	237824116	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4073913	237824116	11426505	117	10812										
RYR2	6262	genome.wustl.edu	37	chr1	237838107	237838107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtttcctccaacaactcattCgctatgtggatgaagcccat	7	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:237838107C>T	ENST00000366574.2	+	60	9108	c.8791C>T	c.(8791-8793)Cgc>Tgc	p.R2931C	RYR2_ENST00000360064.6_Missense_Mutation_p.R2929C|RYR2_ENST00000542537.1_Missense_Mutation_p.R2915C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2931					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACTCATTCGCTATGTGGA	0.408																																																	0													115	109	111					1																	237838107		1874	4107	5981	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8791C>T	1.37:g.237838107C>T	ENSP00000355533:p.Arg2931Cys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R2929C	ENST00000366574.2	37	c.8785	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715135	0.68844	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.96587	-0.31;-4.06;-0.31	4.88	3.83	0.44106	.	0.224693	0.27048	U	0.021186	D	0.94781	0.8315	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.49502	0.613	D	0.94683	0.7867	10	0.72032	D	0.01	.	12.396	0.55384	0.2903:0.7097:0.0:0.0	.	2931	Q92736	RYR2_HUMAN	C	2931;2929;2915	ENSP00000355533:R2931C;ENSP00000353174:R2929C;ENSP00000443798:R2915C	ENSP00000353174:R2929C	R	+	1	0	RYR2	235904730	0.991000	0.36638	0.996000	0.52242	0.968000	0.65278	3.454000	0.52986	2.406000	0.81754	0.557000	0.71058	CGC	RYR2	-	NULL		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237838107	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.875	T	T	237838107	C	T	237838107	3	4	74	1	0	0	0	0	1	0	0	0	13799	884	31	1	9029	1	RYR2	1	237838107	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	13991	237838107	11412514	118	10813										
RYR2	6262	genome.wustl.edu	37	chr1	237935342	237935342	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttatctgagaactcagactgGcaataatacaactgtcaaca	6	9	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:237935342G>T	ENST00000366574.2	+	86	11905	c.11588G>T	c.(11587-11589)gGc>gTc	p.G3863V	RYR2_ENST00000360064.6_Missense_Mutation_p.G3869V|RYR2_ENST00000542537.1_Missense_Mutation_p.G3847V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3863					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCAGACTGGCAATAATACA	0.333																																																	0													63	58	59					1																	237935342		1816	4078	5894	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11588G>T	1.37:g.237935342G>T	ENSP00000355533:p.Gly3863Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.G3869V	ENST00000366574.2	37	c.11606	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987272	0.93106	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95342	-3.68;-3.68;-3.68	5.8	5.8	0.92144	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000009	D	0.97554	0.9199	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.97746	1.0211	10	0.87932	D	0	-14.5941	20.0546	0.97648	0.0:0.0:1.0:0.0	.	837;3863	B4DGV4;Q92736	.;RYR2_HUMAN	V	3863;3869;3847;837	ENSP00000355533:G3863V;ENSP00000353174:G3869V;ENSP00000443798:G3847V	ENSP00000353174:G3869V	G	+	2	0	RYR2	236001965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.643000	0.83706	GGC	RYR2	-	pfam_RIH_assoc-dom		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237935342	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237935342	G	T	237935342	3	4	74	1	0	0	0	0	1	0	0	0	13799	1203	42	4	11930	4	RYR2	1	237935342	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	97235	237935342	11315279	119	10814										
FMN2	56776	genome.wustl.edu	37	chr1	240255561	240255561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctaggcaagcacggcaaggGgggagggggcggcggcggcg	24	9	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:240255561G>A	ENST00000319653.9	+	1	382	c.152G>A	c.(151-153)gGg>gAg	p.G51E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	51					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGGCAAGGGGGGAgggggc	0.672																																																	0													4	6	5					1																	240255561		1992	3880	5872	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.152G>A	1.37:g.240255561G>A	ENSP00000318884:p.Gly51Glu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G51E	ENST00000319653.9	37	c.152	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944155	0.34283	.	.	ENSG00000155816	ENST00000319653	T	0.43294	0.95	3.93	3.93	0.45458	.	.	.	.	.	T	0.47710	0.1460	L	0.54323	1.7	0.80722	D	1	D	0.54047	0.964	P	0.50860	0.652	T	0.44190	-0.9344	9	0.34782	T	0.22	.	14.6594	0.68858	0.0:0.0:1.0:0.0	.	51	Q9NZ56	FMN2_HUMAN	E	51	ENSP00000318884:G51E	ENSP00000318884:G51E	G	+	2	0	FMN2	238322184	1.000000	0.71417	0.931000	0.37212	0.893000	0.52053	2.508000	0.45450	2.185000	0.69588	0.313000	0.20887	GGG	FMN2	-	NULL		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240255561	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	1.000	A	A	240255561	G	A	240255561	3	1	74	1	0	0	0	0	1	0	0	0	5968	1232	43	4	154	4	FMN2	1	240255561	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2320219	240255561	8995060	120	10815										
CHML	1122	genome.wustl.edu	37	chr1	241798625	241798625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcaggcatttcgtcgctattAaaatacgataactggctttc	8	9	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:241798625A>G	ENST00000366553.1	-	1	607	c.444T>C	c.(442-444)ttT>ttC	p.F148F	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	148					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGTCGCTATTAAAATACGATA	0.393																																																	0													152	153	153					1																	241798625		2203	4299	6502	SO:0001819	synonymous_variant	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.444T>C	1.37:g.241798625A>G			B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.F148	ENST00000366553.1	37	c.444	CCDS31073.1	1																																																																																			CHML	-	pirsf_Rab_geranylTrfase_A_euk		0.393	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1	A	NM_001821		241798625	-1	no_errors	ENST00000366553	ensembl	human	known	70_37	silent	SNP	0.000	G	G	241798625	A	G	241798625	2	3	74	1	0	0	0	0	0	0	0	1	3356	359	13	5		5	CHML	1	241798625	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1543064	241798625	7451996	121	10816										
WDR64	128025	genome.wustl.edu	37	chr1	241846798	241846798	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctgtttctaggaaaattatTttgtcataaaaccaatggat	6	5	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:241846798T>G	ENST00000366552.2	+	6	811	c.604T>G	c.(604-606)Ttt>Gtt	p.F202V	WDR64_ENST00000461971.1_3'UTR|WDR64_ENST00000437684.2_Missense_Mutation_p.F202V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	202										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGAAAATTATTTTGTCATAAA	0.393																																																	0													21	20	20					1																	241846798		692	1591	2283	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.604T>G	1.37:g.241846798T>G	ENSP00000355510:p.Phe202Val		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F202V	ENST00000366552.2	37	c.604		1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003169	0.35320	.	.	ENSG00000162843	ENST00000366552;ENST00000437684	T;T	0.38722	1.59;1.12	5.38	5.38	0.77491	.	0.216179	0.32655	N	0.005806	T	0.50205	0.1602	L	0.50333	1.59	0.37005	D	0.895452	.	.	.	.	.	.	T	0.56360	-0.7992	8	0.42905	T	0.14	-13.233	13.9145	0.63887	0.0:0.0:0.0:1.0	.	.	.	.	V	202	ENSP00000355510:F202V;ENSP00000402446:F202V	ENSP00000355510:F202V	F	+	1	0	WDR64	239913421	1.000000	0.71417	0.525000	0.27900	0.109000	0.19521	4.935000	0.63498	2.163000	0.67991	0.402000	0.26972	TTT	WDR64	-	superfamily_WD40_repeat_dom		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		T	NM_144625		241846798	1	no_errors	ENST00000366552	ensembl	human	known	70_37	missense	SNP	0.960	G	G	241846798	T	G	241846798	3	3	74	1	0	0	0	0	1	0	0	0	17346	1841	64	5	626	5	WDR64	1	241846798	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	48173	241846798	7403823	122	10817										
CEP170	9859	genome.wustl.edu	37	chr1	243328008	243328008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggtggttgatttactagatGaaccagataccaccggagaa	12	7	0	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:243328008G>A	ENST00000366542.1	-	13	3305	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	CEP170_ENST00000366544.1_Missense_Mutation_p.S987L|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.S987L|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1085	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTACTAGATGAACCAGATAC	0.483																																																	0													58	56	56					1																	243328008		1931	4118	6049	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3254C>T	1.37:g.243328008G>A	ENSP00000355500:p.Ser1085Leu		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.S1085L	ENST00000366542.1	37	c.3254	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.567253|1.567253	0.28003|0.28003	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	.|T;T;T	.|0.50548	.|0.77;0.77;0.74	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.343513	.|0.31312	.|N	.|0.007872	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.44429	.|0.835;0.228;0.228;0.179	.|B;B;B;B	.|0.36567	.|0.228;0.058;0.083;0.058	T|T	0.03545|0.03545	-1.1026|-1.1026	5|10	.|0.33141	.|T	.|0.24	-3.1231|-3.1231	8.319|8.319	0.32117|0.32117	0.084:0.0:0.7521:0.1639|0.084:0.0:0.7521:0.1639	.|.	.|1048;987;987;1085	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	Y|L	1049|1085;987;987;46	.|ENSP00000355500:S1085L;ENSP00000355502:S987L;ENSP00000355501:S987L	.|ENSP00000355500:S1085L	H|S	-|-	1|2	0|0	CEP170|CEP170	241394631|241394631	0.998000|0.998000	0.40836|0.40836	0.829000|0.829000	0.32907|0.32907	0.543000|0.543000	0.35085|0.35085	2.757000|2.757000	0.47557|0.47557	1.107000|1.107000	0.41642|0.41642	0.555000|0.555000	0.69702|0.69702	CAT|TCA	CEP170	-	NULL		0.483	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243328008	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	0.934	A	A	243328008	G	A	243328008	3	1	74	1	0	0	0	0	1	0	0	0	3255	1294	45	1	1562	1	CEP170	1	243328008	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1481210	243328008	5922613	123	10818										
C1orf101	257044	genome.wustl.edu	37	chr1	244662331	244662331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgtgtgggcatatgatccaGaaagtgcagatcctgatgag	13	7	0	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:244662331G>A	ENST00000366534.4	+	7	433	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.E127K	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	127						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATATGATCCAGAAAGTGCAGA	0.358																																																	0													110	106	107					1																	244662331		2203	4300	6503	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.379G>A	1.37:g.244662331G>A	ENSP00000355492:p.Glu127Lys		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.E127K	ENST00000366534.4	37	c.379	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072550	0.76415	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533	T;T	0.52295	0.68;0.67	5.06	5.06	0.68205	.	0.130908	0.34676	N	0.003761	T	0.62368	0.2422	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.60100	-0.7329	10	0.46703	T	0.11	.	14.1496	0.65373	0.0:0.0:1.0:0.0	.	127;127	Q5SY80;Q5SY80-2	CA101_HUMAN;.	K	127	ENSP00000355492:E127K;ENSP00000355491:E127K	ENSP00000355491:E127K	E	+	1	0	C1orf101	242728954	1.000000	0.71417	0.993000	0.49108	0.636000	0.38137	2.443000	0.44881	2.800000	0.96347	0.650000	0.86243	GAA	C1orf101	-	NULL		0.358	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	G	NM_173807		244662331	1	no_errors	ENST00000366534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	244662331	G	A	244662331	3	1	74	1	0	0	0	0	1	0	0	0	1981	943	33	1	405	1	C1orf101	1	244662331	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1334323	244662331	4588290	124	10819										
KIF26B	55083	genome.wustl.edu	37	chr1	245772752	245772752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aacctgcgggacctgctgtcGgaggtggccacgggcagcct	16	13	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:245772752G>A	ENST00000407071.2	+	8	2276	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	KIF26B_ENST00000366518.4_Silent_p.S231S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	612	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCTGCTGTCGGAGGTGGCCA	0.642																																																	0													15	20	19					1																	245772752		1976	4135	6111	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1836G>A	1.37:g.245772752G>A			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S612	ENST00000407071.2	37	c.1836	CCDS44342.1	1																																																																																			KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245772752	1	no_errors	ENST00000407071	ensembl	human	known	70_37	silent	SNP	0.005	A	A	245772752	G	A	245772752	2	1	74	1	0	0	0	0	0	0	0	1	8315	1103	39	2		2	KIF26B	1	245772752	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1110421	245772752	3477869	125	10820										
SMYD3	64754	genome.wustl.edu	37	chr1	246670379	246670379	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaaggcagcggtcgcagacGacgccacgactccccttgca	12	15	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:246670379G>A	ENST00000388985.4	-	1	140	c.141C>T	c.(139-141)gtC>gtT	p.V47V	SMYD3_ENST00000490107.1_5'UTR|SMYD3_ENST00000403792.3_Silent_p.V47V			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	47	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGTCGCAGACGACGCCACGAC	0.721																																																	0													32	43	39					1																	246670379		692	1591	2283	SO:0001819	synonymous_variant	64754			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.141C>T	1.37:g.246670379G>A			A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.V47	ENST00000388985.4	37	c.141	CCDS53486.1	1																																																																																			SMYD3	-	pfam_SET_dom,smart_SET_dom		0.721	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD3	HGNC	protein_coding		G	NM_022743		246670379	-1	no_errors	ENST00000388985	ensembl	human	known	70_37	silent	SNP	0.624	A	A	246670379	G	A	246670379	2	1	74	1	0	0	0	0	0	0	0	1	14853	1045	37	1		1	SMYD3	1	246670379	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	897627	246670379	2580242	126	10821										
OR2M5	127059	genome.wustl.edu	37	chr1	248308766	248308766	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaaattttcttctatgtatCactgcttggctccgaatgct	6	10	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:248308766C>T	ENST00000366476.1	+	1	317	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCTATGTATCACTGCTTGGC	0.453																																																	0													308	302	304					1																	248308766		2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.317C>T	1.37:g.248308766C>T	ENSP00000355432:p.Ser106Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S106L	ENST00000366476.1	37	c.317	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.774381	0.49786	.	.	ENSG00000162727	ENST00000366476	T	0.00388	7.59	3.28	-0.738	0.11125	GPCR, rhodopsin-like superfamily (1);	0.376135	0.15495	U	0.259352	T	0.00356	0.0011	L	0.31207	0.915	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55704	-0.8099	10	0.48119	T	0.1	.	0.2844	0.00249	0.201:0.223:0.1999:0.3761	.	106	A3KFT3	OR2M5_HUMAN	L	106	ENSP00000355432:S106L	ENSP00000355432:S106L	S	+	2	0	OR2M5	246375389	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-1.152000	0.03172	0.040000	0.15660	-0.344000	0.07964	TCA	OR2M5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	C	NM_001004690		248308766	1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.001	T	T	248308766	C	T	248308766	3	4	74	1	0	0	0	0	1	0	0	0	11037	838	29	1	319	1	OR2M5	1	248308766	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1638387	248308766	941855	127	10822										
MYT1L	23040	genome.wustl.edu	37	chr2	1926366	1926366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctggcaaacactctcgacCgggggctcaactgctcctcc	10	16	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:1926366C>T	ENST00000399161.2	-	10	1922	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R392Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	392					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACTCTCGACCGGGGGCTCAA	0.597																																																	0													40	42	41					2																	1926366		2128	4243	6371	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1175G>A	2.37:g.1926366C>T	ENSP00000382114:p.Arg392Gln		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.R392Q	ENST00000399161.2	37	c.1175		2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534550	0.45073	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.46451	0.87;0.87	5.85	5.85	0.93711	.	0.130714	0.51477	D	0.000096	T	0.47783	0.1464	L	0.27053	0.805	0.48696	D	0.999696	D;D	0.76494	0.998;0.999	P;P	0.55667	0.608;0.781	T	0.28586	-1.0039	10	0.35671	T	0.21	-36.1385	20.1542	0.98100	0.0:1.0:0.0:0.0	.	392;392	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	392;340;392	ENSP00000382114:R392Q;ENSP00000396103:R392Q	ENSP00000295067:R340Q	R	-	2	0	MYT1L	1905373	1.000000	0.71417	0.013000	0.15412	0.011000	0.07611	4.875000	0.63072	2.767000	0.95098	0.563000	0.77884	CGG	MYT1L	-	NULL		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1926366	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	0.894	T	T	1926366	C	T	1926366	3	4	74	1	0	0	0	0	1	0	0	0	10130	652	23	2	2443	2	MYT1L	2	1926366	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		1926366	241273007	128	10823										
TTC15	51112	genome.wustl.edu	37	chr2	3391601	3391601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aacgaacacatgatggagagCgtcctcatctctgactcccc	8	14	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:3391601C>T	ENST00000324266.5	+	2	402	c.207C>T	c.(205-207)agC>agT	p.S69S	TRAPPC12_ENST00000382110.2_Silent_p.S69S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	69					vesicle-mediated transport (GO:0016192)												TGATGGAGAGCGTCCTCATCT	0.642																																																	0													56	48	50					2																	3391601		2203	4300	6503	SO:0001819	synonymous_variant	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.207C>T	2.37:g.3391601C>T			B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S69	ENST00000324266.5	37	c.207	CCDS1652.1	2																																																																																			TRAPPC12	-	NULL		0.642	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	C	NM_016030		3391601	1	no_errors	ENST00000324266	ensembl	human	known	70_37	silent	SNP	0.965	T	T	3391601	C	T	3391601	2	4	74	1	0	0	0	0	0	0	0	1	16713	767	27	2		2	TTC15	2	3391601	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1465235	3391601	239807772	129	10824										
KIDINS220	57498	genome.wustl.edu	37	chr2	8936988	8936988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttggtagcctttataagtggCgtttcaccatcctgtgggca	11	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000473731.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	337					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTATAAGTGGCGTTTCACCAT	0.398																																																	0													212	207	209					2																	8936988		1964	4164	6128	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1011G>A	2.37:g.8936988C>T			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T337	ENST00000256707.3	37	c.1011	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8936988	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	0.923	T	T	8936988	C	T	8936988	2	4	74	1	0	0	0	0	0	0	0	1	8291	755	27	2		2	KIDINS220	2	8936988	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5545387	8936988	234262385	130	10825										
ADAM17	6868	genome.wustl.edu	37	chr2	9637283	9637283	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctgctgttccctctcgcaGaaagggatgcatttcccatc	9	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:9637283G>A	ENST00000310823.3	-	14	1925	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	581	Cys-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507																																																	0													195	168	177					2																	9637283		2203	4300	6503	SO:0001819	synonymous_variant	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1743C>T	2.37:g.9637283G>A			O60226	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F581	ENST00000310823.3	37	c.1743	CCDS1665.1	2																																																																																			ADAM17	-	NULL		0.507	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9637283	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9637283	G	A	9637283	2	1	74	1	0	0	0	0	0	0	0	1	238	933	33	1		1	ADAM17	2	9637283	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	700295	9637283	233562090	131	10826										
ODC1	4953	genome.wustl.edu	37	chr2	10581818	10581818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgttggtccccatatgctgGatgaataatacttctcatct	7	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:10581818G>A	ENST00000234111.4	-	11	1568	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ODC1_ENST00000405333.1_Missense_Mutation_p.S353F|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	353					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CCATATGCTGGATGAATAATA	0.433																																																	0													93	92	92					2																	10581818		2203	4300	6503	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1058C>T	2.37:g.10581818G>A	ENSP00000234111:p.Ser353Phe		Q53TU3|Q6LDS9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.S353F	ENST00000234111.4	37	c.1058	CCDS1672.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237207	0.79800	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.47177	0.85;0.85	5.66	3.7	0.42460	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.438594	0.28683	N	0.014493	T	0.52158	0.1717	L	0.43757	1.38	0.46028	D	0.99882	B	0.25105	0.118	B	0.42959	0.403	T	0.59434	-0.7455	10	0.87932	D	0	.	14.8709	0.70456	0.0:0.3346:0.6654:0.0	.	353	P11926	DCOR_HUMAN	F	353;353;224	ENSP00000234111:S353F;ENSP00000385333:S353F	ENSP00000234111:S353F	S	-	2	0	ODC1	10499269	1.000000	0.71417	0.923000	0.36655	0.992000	0.81027	4.328000	0.59253	2.669000	0.90835	0.591000	0.81541	TCC	ODC1	-	pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C		0.433	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODC1	HGNC	protein_coding	OTTHUMT00000206896.2	G			10581818	-1	no_errors	ENST00000234111	ensembl	human	known	70_37	missense	SNP	0.982	A	A	10581818	G	A	10581818	3	1	74	1	0	0	0	0	1	0	0	0	10849	1174	41	1	335	1	ODC1	2	10581818	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	944535	10581818	232617555	132	10827										
FAM84A	151354	genome.wustl.edu	37	chr2	14774273	14774273	+	Frame_Shift_Del	DEL	C	C	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgacaagtttggcgtgaaggCccccccgggttgcaccccct					rs78327295		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:14774273delC	ENST00000295092.2	+	2	458	c.170delC	c.(169-171)gccfs	p.A57fs	FAM84A_ENST00000331243.4_Frame_Shift_Del_p.A57fs|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	57										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGTGAAGGCCCCCCCGGGT	0.632																																																	0													28	32	31					2																	14774273		2203	4300	6503	SO:0001589	frameshift_variant	151354			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.170delC	2.37:g.14774273delC	ENSP00000295092:p.Ala57fs		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Frame_Shift_Del	DEL	pfam_LRAT-like_dom	p.P59fs	ENST00000295092.2	37	c.170	CCDS1684.1	2																																																																																			FAM84A	-	NULL		0.632	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84A	HGNC	protein_coding	OTTHUMT00000239308.2	C	NM_145175		14774273	1	no_errors	ENST00000295092	ensembl	human	known	70_37	frame_shift_del	DEL	0.532	-	-	14774273	C	-	14774273	7	5	74	1	0	1	0	1	0	0	0	0	5659	739	26	0	172	0	FAM84A	2	14774273	Frame_Shift_Del	DEL	C	TCGA-EA-A3HU-01A-11D-A20U-09	4192455	14774273	228425100	133	10828										
NBAS	51594	genome.wustl.edu	37	chr2	15534390	15534390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaatctaaccatcagcttgCgtgcctcttctgagctagat	7	12	5	2	rs557345395		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:15534390C>T	ENST00000281513.5	-	28	3243	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	NBAS_ENST00000441750.1_Missense_Mutation_p.R953H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1073					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATCAGCTTGCGTGCCTCTTC	0.338																																																	0													54	51	52					2																	15534390		2203	4297	6500	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3218G>A	2.37:g.15534390C>T	ENSP00000281513:p.Arg1073His		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R1073H	ENST00000281513.5	37	c.3218	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.836231|1.836231	0.32421|0.32421	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000441755	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.48|5.48	2.74|2.74	0.32292|0.32292	.|Secretory pathway Sec39 (1);	.|0.097198	.|0.64402	.|N	.|0.000001	T|T	0.09642|0.09642	0.0237|0.0237	L|L	0.27053|0.27053	0.805|0.805	0.38758|0.38758	D|D	0.954268|0.954268	.|P;B	.|0.37141	.|0.584;0.192	.|B;B	.|0.25506	.|0.05;0.061	T|T	0.16364|0.16364	-1.0405|-1.0405	5|10	.|0.87932	.|D	.|0	.|.	9.1299|9.1299	0.36839|0.36839	0.0:0.6998:0.0:0.3002|0.0:0.6998:0.0:0.3002	.|.	.|953;1073	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	T|H	121|953;1073;120	.|ENSP00000413201:R953H;ENSP00000281513:R1073H;ENSP00000396501:R120H	.|ENSP00000281513:R1073H	A|R	-|-	1|2	0|0	NBAS|NBAS	15451841|15451841	0.914000|0.914000	0.31030|0.31030	0.037000|0.037000	0.18230|0.18230	0.848000|0.848000	0.48234|0.48234	0.684000|0.684000	0.25364|0.25364	0.295000|0.295000	0.22570|0.22570	-0.140000|-0.140000	0.14226|0.14226	GCA|CGC	NBAS	-	pfam_Sec39		0.338	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15534390	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	0.619	T	T	15534390	C	T	15534390	3	4	74	1	0	0	0	0	1	0	0	0	10209	768	27	2	3997	2	NBAS	2	15534390	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	760117	15534390	227664983	134	10829										
DDX1	1653	genome.wustl.edu	37	chr2	15743960	15743960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actgacaagtttggatttggCtttggtggaacaggaaagaa	13	4	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:15743960C>T	ENST00000381341.2	+	10	887	c.498C>T	c.(496-498)ggC>ggT	p.G166G	DDX1_ENST00000233084.3_Silent_p.G166G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	166	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTGGATTTGGCTTTGGTGGAA	0.279																																																	0													89	86	87					2																	15743960		2203	4300	6503	SO:0001819	synonymous_variant	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.498C>T	2.37:g.15743960C>T			B4DME8|B4DPN6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G166	ENST00000381341.2	37	c.498	CCDS1686.1	2																																																																																			DDX1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.279	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2	C	NM_004939		15743960	1	no_errors	ENST00000233084	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15743960	C	T	15743960	2	4	74	1	0	0	0	0	0	0	0	1	4346	784	28	4		4	DDX1	2	15743960	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	209570	15743960	227455413	135	10830										
OSR1	130497	genome.wustl.edu	37	chr2	19553221	19553221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggttggcaaaatcaaagcGcggcttggtcttgagcgctg	14	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:19553221G>A	ENST00000272223.2	-	2	690	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	OSR1_ENST00000536433.1_Missense_Mutation_p.R116C	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	116					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAATCAAAGCGCGGCTTGGTC	0.647																																																	0													40	43	42					2																	19553221		2203	4300	6503	SO:0001583	missense	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.346C>T	2.37:g.19553221G>A	ENSP00000272223:p.Arg116Cys		B3KV97|D6W521	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R116C	ENST00000272223.2	37	c.346	CCDS1694.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126873	0.77549	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.08102	3.13;3.13	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00046	-1.2211	9	.	.	.	-29.0431	12.5811	0.56391	0.0:0.0:0.7221:0.2779	.	116	Q8TAX0	OSR1_HUMAN	C	116	ENSP00000272223:R116C;ENSP00000441801:R116C	.	R	-	1	0	OSR1	19416702	0.986000	0.35501	0.967000	0.41034	0.991000	0.79684	1.900000	0.39828	2.765000	0.95021	0.555000	0.69702	CGC	OSR1	-	NULL		0.647	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	G	NM_145260		19553221	-1	no_errors	ENST00000272223	ensembl	human	known	70_37	missense	SNP	0.994	A	A	19553221	G	A	19553221	3	1	74	1	0	0	0	0	1	0	0	0	11317	1087	38	2	462	2	OSR1	2	19553221	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3809261	19553221	223646152	136	10831										
ITSN2	50618	genome.wustl.edu	37	chr2	24518561	24518561	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgttgaagttgcttgattTccataatttccaagtcacac	6	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:24518561T>A	ENST00000355123.4	-	14	2050	c.1607A>T	c.(1606-1608)gAa>gTa	p.E536V	ITSN2_ENST00000361999.3_Missense_Mutation_p.E536V|ITSN2_ENST00000406921.3_Missense_Mutation_p.E536V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	536					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTTGATTTCCATAATTTC	0.428																																																	0													175	171	172					2																	24518561		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1607A>T	2.37:g.24518561T>A	ENSP00000347244:p.Glu536Val		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E536V	ENST00000355123.4	37	c.1607	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630051	0.67015	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;D	0.83163	-0.05;-0.0;-0.05;0.43;-1.69	5.39	5.39	0.77823	.	0.000000	0.38164	U	0.001800	D	0.90051	0.6893	M	0.71581	2.175	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.71870	0.975;0.975;0.961;0.915	D	0.91129	0.4936	10	0.72032	D	0.01	.	15.73	0.77794	0.0:0.0:0.0:1.0	.	536;536;536;536	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	V	536;536;536;560;536;561	ENSP00000354561:E536V;ENSP00000347244:E536V;ENSP00000370250:E536V;ENSP00000384499:E536V;ENSP00000391224:E561V	ENSP00000347244:E536V	E	-	2	0	ITSN2	24372065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.291000	0.78721	2.191000	0.70037	0.528000	0.53228	GAA	ITSN2	-	NULL		0.428	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	T	NM_006277		24518561	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24518561	T	A	24518561	3	1	74	1	0	0	0	0	1	0	0	0	7947	1783	62	5	3645	5	ITSN2	2	24518561	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4965340	24518561	218680812	137	10832										
DTNB	1838	genome.wustl.edu	37	chr2	25851118	25851118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttggtgagtagaaggaaggCgcttgttcaactgatagtag	14	4	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:25851118C>T	ENST00000406818.3	-	4	533	c.284G>A	c.(283-285)cGc>cAc	p.R95H	DTNB_ENST00000407186.1_Missense_Mutation_p.R95H|DTNB_ENST00000288642.8_Missense_Mutation_p.R95H|DTNB_ENST00000405222.1_Missense_Mutation_p.R95H|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.R38H|DTNB_ENST00000404103.3_Missense_Mutation_p.R95H|DTNB_ENST00000407038.3_Missense_Mutation_p.R95H|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.R95H	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	95						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R95L(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGGAAGGCGCTTGTTCAA	0.458																																																	1	Substitution - Missense(1)	lung(1)											156	146	149					2																	25851118		1972	4152	6124	SO:0001583	missense	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.284G>A	2.37:g.25851118C>T	ENSP00000384084:p.Arg95His		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R95H	ENST00000406818.3	37	c.284	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.137053	0.94517	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.01	5.01	0.66863	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.85299	2.745	0.80722	D	1	D;D;D;D;P;P;D;D;D	0.89917	0.993;1.0;0.965;0.995;0.764;0.592;1.0;1.0;1.0	D;D;P;D;P;B;D;D;D	0.76575	0.919;0.986;0.846;0.949;0.624;0.339;0.987;0.987;0.988	D	0.86071	0.1538	10	0.87932	D	0	-15.5589	15.0562	0.71915	0.0:1.0:0.0:0.0	.	38;95;95;95;95;95;95;95;95	F5GZG4;O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;DTNB_HUMAN	H	38;95;95;95;95;95;95;95;95;95	ENSP00000444463:R38H;ENSP00000384084:R95H;ENSP00000385482:R95H;ENSP00000385193:R95H;ENSP00000384767:R95H;ENSP00000384787:R95H;ENSP00000385784:R95H;ENSP00000288642:R95H;ENSP00000306529:R95H;ENSP00000340957:R95H	ENSP00000288642:R95H	R	-	2	0	DTNB	25704622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.329000	0.79093	0.655000	0.94253	CGC	DTNB	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin		0.458	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	C	NM_033147		25851118	-1	no_errors	ENST00000406818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25851118	C	T	25851118	3	4	74	1	0	0	0	0	1	0	0	0	4799	768	27	2	1667	2	DTNB	2	25851118	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1332557	25851118	217348255	138	10833										
AGBL5	60509	genome.wustl.edu	37	chr2	27278920	27278920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcccccccaaagagagtggcGttgcttactatgtggacctg	11	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:27278920G>A	ENST00000360131.4	+	7	1438	c.1279G>A	c.(1279-1281)Gtt>Att	p.V427I	AGBL5_ENST00000323064.8_Missense_Mutation_p.V427I|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	427					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAGTGGCGTTGCTTACTA	0.527																																																	0													186	184	185					2																	27278920		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1279G>A	2.37:g.27278920G>A	ENSP00000353249:p.Val427Ile		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.V427I	ENST00000360131.4	37	c.1279	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039049	0.55003	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.32272	1.46;1.46	5.88	5.88	0.94601	.	0.108710	0.64402	D	0.000006	T	0.20536	0.0494	N	0.19112	0.55	0.40724	D	0.982688	P;P;P	0.45240	0.854;0.699;0.699	B;B;B	0.42959	0.403;0.102;0.102	T	0.02464	-1.1155	10	0.27082	T	0.32	-2.954	9.017	0.36175	0.0782:0.1946:0.7272:0.0	.	427;427;427	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	I	427	ENSP00000323681:V427I;ENSP00000353249:V427I	ENSP00000323681:V427I	V	+	1	0	AGBL5	27132424	1.000000	0.71417	0.951000	0.38953	0.920000	0.55202	3.672000	0.54583	2.791000	0.96007	0.491000	0.48974	GTT	AGBL5	-	NULL		0.527	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278920	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	0.994	A	A	27278920	G	A	27278920	3	1	74	1	0	0	0	0	1	0	0	0	378	1145	40	2	1301	2	AGBL5	2	27278920	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1427802	27278920	215920453	139	10834										
CAD	790	genome.wustl.edu	37	chr2	27444186	27444186	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgcaccctgcatgagtggcTgcagcagcatggcatccctg	12	15	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:27444186T>A	ENST00000403525.1	+	3	467	c.323T>A	c.(322-324)cTg>cAg	p.L108Q	CAD_ENST00000264705.4_Missense_Mutation_p.L108Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGAGTGGCTGCAGCAGCAT	0.572																																																	0													43	36	38					2																	27444186		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.323T>A	2.37:g.27444186T>A	ENSP00000384510:p.Leu108Gln		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L108Q	ENST00000403525.1	37	c.323		2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356445	0.82243	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96856	-4.15;-4.15	5.19	5.19	0.71726	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.080496	0.51477	D	0.000093	D	0.98915	0.9632	H	0.98701	4.305	0.58432	D	0.999999	D;P	0.89917	1.0;0.873	D;P	0.85130	0.997;0.63	D	0.99116	1.0848	10	0.87932	D	0	-0.3319	13.2885	0.60258	0.0:0.0:0.0:1.0	.	108;108	F8VPD4;P27708	.;PYR1_HUMAN	Q	108	ENSP00000264705:L108Q;ENSP00000384510:L108Q	ENSP00000264705:L108Q	L	+	2	0	CAD	27297690	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.270000	0.78493	2.090000	0.63153	0.459000	0.35465	CTG	CAD	-	pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	T			27444186	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27444186	T	A	27444186	3	1	74	1	0	0	0	0	1	0	0	0	2570	1580	55	5	333	5	CAD	2	27444186	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	165266	27444186	215755187	140	10835										
CAD	790	genome.wustl.edu	37	chr2	27461354	27461354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccagtgacctgcgaggtggCtccccaccacctgttcctaa	10	16	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:27461354C>T	ENST00000403525.1	+	30	4871	c.4727C>T	c.(4726-4728)gCt>gTt	p.A1576V	CAD_ENST00000264705.4_Missense_Mutation_p.A1639V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGAGGTGGCTCCCCACCAC	0.617																																																	0													84	89	87					2																	27461354		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4727C>T	2.37:g.27461354C>T	ENSP00000384510:p.Ala1576Val		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.A1639V	ENST00000403525.1	37	c.4916		2	.	.	.	.	.	.	.	.	.	.	C	32	5.131967	0.94473	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98296	-4.85;-4.8	4.94	4.94	0.65067	.	0.050482	0.85682	D	0.000000	D	0.98729	0.9573	M	0.85373	2.75	0.80722	D	1	P;D	0.57257	0.887;0.979	P;P	0.58721	0.596;0.844	D	0.99433	1.0936	10	0.56958	D	0.05	0.697	16.753	0.85492	0.0:1.0:0.0:0.0	.	1576;1639	F8VPD4;P27708	.;PYR1_HUMAN	V	1639;1576	ENSP00000264705:A1639V;ENSP00000384510:A1576V	ENSP00000264705:A1639V	A	+	2	0	CAD	27314858	1.000000	0.71417	0.943000	0.38184	0.680000	0.39746	7.421000	0.80204	2.292000	0.77174	0.561000	0.74099	GCT	CAD	-	NULL		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27461354	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	0.999	T	T	27461354	C	T	27461354	3	4	74	1	0	0	0	0	1	0	0	0	2570	797	28	4	5038	4	CAD	2	27461354	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	17168	27461354	215738019	141	10836										
SPDYA	245711	genome.wustl.edu	37	chr2	29052078	29052078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acgaaatttttccatgggctTtagggaaaaactggagaaaa	10	5	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:29052078T>C	ENST00000334056.5	+	6	634	c.445T>C	c.(445-447)Tta>Cta	p.L149L	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Silent_p.L149L	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCCATGGGCTTTAGGGAAAAA	0.383																																																	0													76	80	79					2																	29052078		2203	4299	6502	SO:0001819	synonymous_variant	245711			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.445T>C	2.37:g.29052078T>C				Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.L149	ENST00000334056.5	37	c.445	CCDS1767.2	2																																																																																			SPDYA	-	pfam_Cell_cycle_regulatory_Spy1		0.383	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	HGNC	protein_coding	OTTHUMT00000157171.1	T	NM_182756		29052078	1	no_errors	ENST00000334056	ensembl	human	known	70_37	silent	SNP	0.994	C	C	29052078	T	C	29052078	2	2	74	1	0	0	0	0	0	0	0	1	15057	1838	64	5		5	SPDYA	2	29052078	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1590724	29052078	214147295	142	10837										
ALK	238	genome.wustl.edu	37	chr2	29498346	29498346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccttgtccccaccatgcgaCcatctgcagccagaacctgt	7	17	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:29498346C>A	ENST00000389048.3	-	10	2740	c.1834G>T	c.(1834-1836)Gtc>Ttc	p.V612F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	612	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CACCATGCGACCATCTGCAGC	0.532			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													125	108	114					2																	29498346		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1834G>T	2.37:g.29498346C>A	ENSP00000373700:p.Val612Phe		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V612F	ENST00000389048.3	37	c.1834	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773908	0.49786	.	.	ENSG00000171094	ENST00000389048	T	0.02197	4.4	5.05	4.15	0.48705	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.168551	0.27627	U	0.018531	T	0.03783	0.0107	L	0.29908	0.895	0.80722	D	1	D	0.57571	0.98	P	0.52386	0.697	T	0.61686	-0.7012	9	.	.	.	.	11.2814	0.49197	0.0:0.8153:0.1846:0.0	.	612	Q9UM73	ALK_HUMAN	F	612	ENSP00000373700:V612F	.	V	-	1	0	ALK	29351850	1.000000	0.71417	0.612000	0.29024	0.468000	0.32798	1.902000	0.39848	1.087000	0.41251	0.561000	0.74099	GTC	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom		0.532	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	C	NM_004304		29498346	-1	no_errors	ENST00000389048	ensembl	human	known	70_37	missense	SNP	0.968	A	A	29498346	C	A	29498346	3	1	74	1	0	0	0	0	1	0	0	0	525	507	18	4	3108	4	ALK	2	29498346	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	446268	29498346	213701027	143	10838										
GALNT14	79623	genome.wustl.edu	37	chr2	31215713	31215713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaggaagtacctcagatggCgagtgtccgggatggcccga	17	9	1	1	rs113322802		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:31215713C>T	ENST00000349752.5	-	2	929	c.290G>A	c.(289-291)cGc>cAc	p.R97H	GALNT14_ENST00000406653.1_Missense_Mutation_p.R77H|GALNT14_ENST00000356174.3_Missense_Mutation_p.R97H|GALNT14_ENST00000420311.2_Missense_Mutation_p.R62H|GALNT14_ENST00000324589.5_Intron|AC009305.1_ENST00000449780.1_RNA	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	97					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCAGATGGCGAGTGTCCGG	0.567																																																	0													102	100	100					2																	31215713		2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.290G>A	2.37:g.31215713C>T	ENSP00000288988:p.Arg97His		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R97H	ENST00000349752.5	37	c.290	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698192	0.68386	.	.	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.72615	0.02;0.02;-0.29;0.02;-0.67	4.96	4.96	0.65561	.	.	.	.	.	D	0.86112	0.5855	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.87578	0.994;0.98;0.998;0.872;0.998	D	0.88377	0.2999	9	0.87932	D	0	.	18.396	0.90499	0.0:1.0:0.0:0.0	.	62;62;97;97;77	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	H	97;77;97;62;97	ENSP00000288988:R97H;ENSP00000385435:R77H;ENSP00000348497:R97H;ENSP00000415514:R62H;ENSP00000406399:R97H	ENSP00000288988:R97H	R	-	2	0	GALNT14	31069217	1.000000	0.71417	0.966000	0.40874	0.171000	0.22731	6.585000	0.74062	2.564000	0.86499	0.561000	0.74099	CGC	GALNT14	-	NULL		0.567	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	C	NM_024572		31215713	-1	no_errors	ENST00000349752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31215713	C	T	31215713	3	4	74	1	0	0	0	0	1	0	0	0	6231	768	27	2	1424	2	GALNT14	2	31215713	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1717367	31215713	211983660	144	10839										
CEBPZ	10153	genome.wustl.edu	37	chr2	37455944	37455944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tattaactgatgtcctttgaCtttctgctgtatttttatta	5	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:37455944C>T	ENST00000234170.5	-	2	537	c.392G>A	c.(391-393)aGt>aAt	p.S131N	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	131					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGTCCTTTGACTTTCTGCTGT	0.323																																																	0													98	99	99					2																	37455944		2203	4299	6502	SO:0001583	missense	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.392G>A	2.37:g.37455944C>T	ENSP00000234170:p.Ser131Asn		Q8NE75	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.S131N	ENST00000234170.5	37	c.392	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.373507	0.01214	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02525	4.26;4.26	5.65	-0.963	0.10330	.	1.134260	0.06206	N	0.684140	T	0.02727	0.0082	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47209	-0.9135	10	0.87932	D	0	.	7.0017	0.24813	0.1109:0.5433:0.0:0.3458	.	131	Q03701	CEBPZ_HUMAN	N	131;131;82	ENSP00000234170:S131N;ENSP00000391881:S82N	ENSP00000234170:S131N	S	-	2	0	CEBPZ	37309448	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.862000	0.04263	0.075000	0.16796	0.655000	0.94253	AGT	CEBPZ	-	NULL		0.323	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	C	NM_005760		37455944	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	missense	SNP	0.000	T	T	37455944	C	T	37455944	3	4	74	1	0	0	0	0	1	0	0	0	3209	565	20	4	2832	4	CEBPZ	2	37455944	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6240231	37455944	205743429	145	10840										
THADA	63892	genome.wustl.edu	37	chr2	43458382	43458382	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggacgccagccggactttGagaggagacagaagaggtgc	18	8	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:43458382G>C	ENST00000405006.4	-	38	5918	c.5567C>G	c.(5566-5568)tCa>tGa	p.S1856*	THADA_ENST00000415080.2_Nonsense_Mutation_p.S1537*|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Nonsense_Mutation_p.S1856*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1856								p.S1856*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCGGACTTTGAGAGGAGACA	0.512																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											37	39	38					2																	43458382		1930	4133	6063	SO:0001587	stop_gained	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5567C>G	2.37:g.43458382G>C	ENSP00000385995:p.Ser1856*		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.S1856*	ENST00000405006.4	37	c.5567	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.286030|4.286030	0.80803|0.80803	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|.	.|.	.|.	4.64|4.64	2.73|2.73	0.32206|0.32206	.|.	.|0.768041	.|0.11907	.|N	.|0.518013	T|.	0.57330|.	0.2046|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49062|.	-0.8978|.	4|.	.|0.27785	.|T	.|0.31	-26.4041|-26.4041	10.499|10.499	0.44794|0.44794	0.0:0.3201:0.5562:0.1237|0.0:0.3201:0.5562:0.1237	.|.	.|.	.|.	.|.	E|X	1096|1856;1783;1537;1856	.|.	.|ENSP00000349464:S1783X	Q|S	-|-	1|2	0|0	THADA|THADA	43311886|43311886	0.017000|0.017000	0.18338|0.18338	0.301000|0.301000	0.25044|0.25044	0.124000|0.124000	0.20399|0.20399	1.430000|1.430000	0.34914|0.34914	1.142000|1.142000	0.42291|0.42291	0.655000|0.655000	0.94253|0.94253	CAA|TCA	THADA	-	NULL		0.512	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	G	NM_022065		43458382	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	nonsense	SNP	0.002	C	C	43458382	G	C	43458382	4	2	74	1	0	0	0	0	0	1	0	0	15870	1294	45	1	298	1	THADA	2	43458382	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6002438	43458382	199740991	146	10841										
LRPPRC	10128	genome.wustl.edu	37	chr2	44190814	44190814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgatcaggatgtactcccaaTtcttgcattcctttgaggat	8	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:44190814T>A	ENST00000260665.7	-	12	1458	c.1401A>T	c.(1399-1401)gaA>gaT	p.E467D	LRPPRC_ENST00000409659.1_Missense_Mutation_p.E467D|LRPPRC_ENST00000409946.1_Missense_Mutation_p.E467D	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	467					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTACTCCCAATTCTTGCATTC	0.363																																																	0													138	134	136					2																	44190814		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1401A>T	2.37:g.44190814T>A	ENSP00000260665:p.Glu467Asp		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E467D	ENST00000260665.7	37	c.1401	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	T	8.896	0.955156	0.18507	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659	T;T;T	0.30182	1.54;1.54;1.54	5.47	-2.14	0.07123	.	0.158211	0.53938	N	0.000043	T	0.20740	0.0499	L	0.49640	1.575	0.20764	N	0.99986	B;B	0.28933	0.228;0.012	B;B	0.24541	0.054;0.012	T	0.16660	-1.0395	10	0.28530	T	0.3	-7.8431	8.5327	0.33344	0.0:0.3718:0.1043:0.5239	.	367;467	F5H4J6;P42704	.;LPPRC_HUMAN	D	367;467;467;467	ENSP00000260665:E467D;ENSP00000386234:E467D;ENSP00000386562:E467D	ENSP00000260665:E467D	E	-	3	2	LRPPRC	44044318	0.003000	0.15002	0.007000	0.13788	0.024000	0.10985	-0.280000	0.08468	-0.246000	0.09611	-0.371000	0.07208	GAA	LRPPRC	-	NULL		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	T	NM_133259		44190814	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.005	A	A	44190814	T	A	44190814	3	1	74	1	0	0	0	0	1	0	0	0	8988	1490	52	5	2891	5	LRPPRC	2	44190814	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	732432	44190814	199008559	147	10842										
FBXO11	80204	genome.wustl.edu	37	chr2	48036826	48036826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccttctagtgttgcagttgCgtgatttgtaatttcaatac	9	7	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:48036826C>T	ENST00000403359.3	-	20	2431	c.2359G>A	c.(2359-2361)Gca>Aca	p.A787T	FBXO11_ENST00000316377.4_Missense_Mutation_p.A703T|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000434523.2_Missense_Mutation_p.A211T|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.A703T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	787					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.A703T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGCAGTTGCGTGATTTGTA	0.333			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)											98	94	95					2																	48036826		2202	4300	6502	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2359G>A	2.37:g.48036826C>T	ENSP00000384823:p.Ala787Thr		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.A787T	ENST00000403359.3	37	c.2359	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.613598	0.96637	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	M	0.81497	2.545	0.80722	D	1	D	0.57571	0.98	P	0.56434	0.798	D	0.88953	0.3388	10	0.54805	T	0.06	-11.272	19.7088	0.96084	0.0:1.0:0.0:0.0	.	211	B3KUR1	.	T	703;787;703;211	ENSP00000385398:A703T;ENSP00000384823:A787T;ENSP00000323822:A703T;ENSP00000397359:A211T	ENSP00000323822:A703T	A	-	1	0	FBXO11	47890330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	2.722000	0.93159	0.561000	0.74099	GCA	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	C	NM_012167, NM_018693, NM_025133		48036826	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48036826	C	T	48036826	3	4	74	1	0	0	0	0	1	0	0	0	5745	768	27	2	440	2	FBXO11	2	48036826	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3846012	48036826	195162547	148	10843										
FSHR	2492	genome.wustl.edu	37	chr2	49195912	49195912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttccatgagggcgacaagcTtttccagagtaggcagcttt	11	10	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:49195912T>G	ENST00000406846.2	-	9	898	c.779A>C	c.(778-780)aAg>aCg	p.K260T	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Missense_Mutation_p.K234T|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	260					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGCGACAAGCTTTTCCAGAGT	0.493									Gonadal Dysgenesis, 46 XX																																								0													104	98	100					2																	49195912		2203	4300	6503	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.779A>C	2.37:g.49195912T>G	ENSP00000384708:p.Lys260Thr		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.K260T	ENST00000406846.2	37	c.779	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	T	8.897	0.955500	0.18507	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	T;T	0.71222	-0.55;-0.51	5.45	4.29	0.51040	.	0.386001	0.27941	N	0.017221	T	0.59905	0.2228	L	0.39245	1.2	0.26165	N	0.979943	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46978	-0.9152	9	.	.	.	.	12.1196	0.53883	0.0:0.0:0.1434:0.8566	.	234;260	Q05AH0;P23945	.;FSHR_HUMAN	T	260;234	ENSP00000384708:K260T;ENSP00000306780:K234T	.	K	-	2	0	FSHR	49049416	0.920000	0.31207	0.599000	0.28851	0.889000	0.51656	1.956000	0.40382	1.072000	0.40860	0.533000	0.62120	AAG	FSHR	-	NULL		0.493	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	T			49195912	-1	no_errors	ENST00000406846	ensembl	human	known	70_37	missense	SNP	0.395	G	G	49195912	T	G	49195912	3	3	74	1	0	0	0	0	1	0	0	0	6091	1609	56	5	1316	5	FSHR	2	49195912	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1159086	49195912	194003461	149	10844										
VPS54	51542	genome.wustl.edu	37	chr2	64211004	64211004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaaaaagcattacctgtggGttccttgggacacacatctg	9	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:64211004G>T	ENST00000272322.4	-	2	284	c.130C>A	c.(130-132)Ccc>Acc	p.P44T	VPS54_ENST00000409558.4_Missense_Mutation_p.P44T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	44					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTACCTGTGGGTTCCTTGGGA	0.373																																																	0													109	113	112					2																	64211004		2203	4300	6503	SO:0001583	missense	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.130C>A	2.37:g.64211004G>T	ENSP00000272322:p.Pro44Thr		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.P44T	ENST00000272322.4	37	c.130	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623219	0.87460	.	.	ENSG00000143952	ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T	0.43688	0.94;1.19	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.57213	-0.7850	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	44;44	Q9P1Q0;Q9P1Q0-4	VPS54_HUMAN;.	T	44	ENSP00000272322:P44T;ENSP00000386980:P44T	ENSP00000272322:P44T	P	-	1	0	VPS54	64064508	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.399000	0.90197	2.771000	0.95319	0.650000	0.86243	CCC	VPS54	-	NULL		0.373	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	G	NM_016516		64211004	-1	no_errors	ENST00000272322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64211004	G	T	64211004	3	4	74	1	0	0	0	0	1	0	0	0	17247	1261	44	4	2891	4	VPS54	2	64211004	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	15015092	64211004	178988369	150	10845										
CEP68	23177	genome.wustl.edu	37	chr2	65298779	65298779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcctgtcacagtggaagtcCgtgctgagcccaggttccgc	13	13	1	1	rs150940314		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:65298779C>G	ENST00000377990.2	+	3	752	c.549C>G	c.(547-549)tcC>tcG	p.S183S	CEP68_ENST00000260569.4_Silent_p.S183S|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Silent_p.S183S|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGGAAGTCCGTGCTGAGCC	0.607																																																	0													80	67	71					2																	65298779		2203	4300	6503	SO:0001819	synonymous_variant	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.549C>G	2.37:g.65298779C>G			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	NULL	p.S183	ENST00000377990.2	37	c.549	CCDS1880.2	2																																																																																			CEP68	-	NULL		0.607	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	C	NM_015147		65298779	1	no_errors	ENST00000377990	ensembl	human	known	70_37	silent	SNP	0.000	G	G	65298779	C	G	65298779	2	3	74	1	0	0	0	0	0	0	0	1	3263	639	23	2		2	CEP68	2	65298779	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1087775	65298779	177900594	151	10846										
ETAA1	54465	genome.wustl.edu	37	chr2	67631408	67631408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acacaaggtattctaatgaaCagaaaaataagtgcatttta	6	5	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:67631408C>T	ENST00000272342.5	+	5	1724	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	532						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCTAATGAACAGAAAAATAA	0.338																																																	0													38	40	39					2																	67631408		2202	4296	6498	SO:0001587	stop_gained	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1594C>T	2.37:g.67631408C>T	ENSP00000272342:p.Gln532*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	NULL	p.Q532*	ENST00000272342.5	37	c.1594	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949187	0.73787	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.85	4.98	0.66077	.	0.511047	0.20560	N	0.089937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-27.2549	14.9288	0.70900	0.0:0.9317:0.0:0.0683	.	.	.	.	X	532	.	ENSP00000272342:Q532X	Q	+	1	0	ETAA1	67484912	0.438000	0.25602	0.696000	0.30242	0.021000	0.10359	1.006000	0.29847	1.492000	0.48499	0.655000	0.94253	CAG	ETAA1	-	NULL		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	C	NM_019002		67631408	1	no_errors	ENST00000272342	ensembl	human	known	70_37	nonsense	SNP	0.026	T	T	67631408	C	T	67631408	4	4	74	1	0	0	0	0	0	1	0	0	5279	479	17	4	1612	4	ETAA1	2	67631408	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2332629	67631408	175567965	152	10847										
TIA1	7072	genome.wustl.edu	37	chr2	70454926	70454926	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagttgtaatttctgggctGagatcaccaacaaagacatg	9	8	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:70454926G>T	ENST00000433529.2	-	6	549	c.339C>A	c.(337-339)ctC>ctA	p.L113L	TIA1_ENST00000416149.2_Silent_p.L113L|TIA1_ENST00000445587.1_Silent_p.L102L|TIA1_ENST00000415783.2_Silent_p.L102L|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Silent_p.L113L	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	113	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTTCTGGGCTGAGATCACCAA	0.308																																																	0													83	88	86					2																	70454926		2203	4294	6497	SO:0001819	synonymous_variant	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.339C>A	2.37:g.70454926G>T			Q53SS9	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S153*	ENST00000433529.2	37	c.458	CCDS1901.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860694	0.91433	.	.	ENSG00000116001	ENST00000361692	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.63698	0.2533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61098	-0.7131	4	.	.	.	-6.6302	11.6611	0.51347	0.0:0.1785:0.8215:0.0	.	.	.	.	K	94	.	.	Q	-	1	0	TIA1	70308430	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.556000	0.23438	2.642000	0.89623	0.650000	0.86243	CAG	TIA1	-	NULL		0.308	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	G	NM_022037		70454926	-1	no_errors	ENST00000477044	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70454926	G	T	70454926	2	4	74	1	0	0	0	0	0	0	0	1	15917	1277	45	3		3	TIA1	2	70454926	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2823518	70454926	172744447	153	10848										
MPHOSPH10	10199	genome.wustl.edu	37	chr2	71375143	71375143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctagcctgtaccagagatTaaagttgtgtcaaatctgcc	8	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:71375143T>G	ENST00000244230.2	+	9	1924	c.1572T>G	c.(1570-1572)atT>atG	p.I524M		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	524					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TACCAGAGATTAAAGTTGTGT	0.433																																																	0													145	155	152					2																	71375143		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1572T>G	2.37:g.71375143T>G	ENSP00000244230:p.Ile524Met		A0AVJ8	Missense_Mutation	SNP	pfam_Mpp10,pirsf_snoRNP_Mpp10	p.I524M	ENST00000244230.2	37	c.1572	CCDS1916.1	2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193759	0.38707	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.11821	2.74;2.74	5.64	0.378	0.16204	.	0.222808	0.46758	D	0.000277	T	0.17831	0.0428	L	0.39514	1.22	0.36298	D	0.856829	D	0.61697	0.99	D	0.65773	0.938	T	0.27088	-1.0084	10	0.31617	T	0.26	.	3.1274	0.06412	0.2812:0.2547:0.0:0.4641	.	524	O00566	MPP10_HUMAN	M	524;384	ENSP00000244230:I524M;ENSP00000393034:I384M	ENSP00000244230:I524M	I	+	3	3	MPHOSPH10	71228651	0.997000	0.39634	0.996000	0.52242	0.237000	0.25408	0.346000	0.19997	-0.087000	0.12528	0.533000	0.62120	ATT	MPHOSPH10	-	pfam_Mpp10,pirsf_snoRNP_Mpp10		0.433	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	HGNC	protein_coding	OTTHUMT00000251924.2	T	NM_005791		71375143	1	no_errors	ENST00000244230	ensembl	human	known	70_37	missense	SNP	0.993	G	G	71375143	T	G	71375143	3	3	74	1	0	0	0	0	1	0	0	0	9748	1742	61	5	1606	5	MPHOSPH10	2	71375143	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	920217	71375143	171824230	154	10849										
EXOC6B	23233	genome.wustl.edu	37	chr2	72945400	72945400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acttgaggcaggtaggtatgCtctagatgttccagagtttt	12	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:72945400C>T	ENST00000272427.6	-	6	631	c.501G>A	c.(499-501)gaG>gaA	p.E167E	EXOC6B_ENST00000410104.1_Silent_p.E167E	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	167					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GGTAGGTATGCTCTAGATGTT	0.423																																																	0													118	116	117					2																	72945400		1938	4142	6080	SO:0001819	synonymous_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.501G>A	2.37:g.72945400C>T			B8ZZY3	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.E167	ENST00000272427.6	37	c.501	CCDS46333.1	2																																																																																			EXOC6B	-	pirsf_Sec15		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	C	XM_039570		72945400	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72945400	C	T	72945400	2	4	74	1	0	0	0	0	0	0	0	1	5321	796	28	4		4	EXOC6B	2	72945400	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1570257	72945400	170253973	155	10850										
FBXO41	150726	genome.wustl.edu	37	chr2	73491083	73491083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caccgggtgctccgggcataCtcctccttgctctccttctt	8	17	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:73491083C>A	ENST00000521871.1	-	7	2320	c.1905G>T	c.(1903-1905)gaG>gaT	p.E635D	FBXO41_ENST00000520530.2_Missense_Mutation_p.E635D|FBXO41_ENST00000295133.5_Missense_Mutation_p.E696D			Q8TF61	FBX41_HUMAN	F-box protein 41	635										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCCGGGCATACTCCTCCTTGC	0.617																																																	0													29	37	35					2																	73491083		1985	4155	6140	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1905G>T	2.37:g.73491083C>A	ENSP00000428646:p.Glu635Asp		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.E696D	ENST00000521871.1	37	c.2088	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708740	0.30322	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.21361	2.01;2.01	5.4	1.6	0.23607	F-box domain, Skp2-like (1);	0.334636	0.35096	N	0.003457	T	0.11537	0.0281	L	0.34521	1.04	0.40869	D	0.983896	B	0.09022	0.002	B	0.09377	0.004	T	0.21109	-1.0255	10	0.09338	T	0.73	-20.1168	6.0013	0.19521	0.0:0.5227:0.2553:0.222	.	635	Q8TF61	FBX41_HUMAN	D	696;635	ENSP00000295133:E696D;ENSP00000428646:E635D	ENSP00000295133:E696D	E	-	3	2	FBXO41	73344591	0.985000	0.35326	0.998000	0.56505	0.995000	0.86356	0.241000	0.18065	0.120000	0.18254	0.561000	0.74099	GAG	FBXO41	-	superfamily_F-box_dom_cyclin-like		0.617	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	C			73491083	-1	no_errors	ENST00000295133	ensembl	human	known	70_37	missense	SNP	0.997	A	A	73491083	C	A	73491083	3	1	74	1	0	0	0	0	1	0	0	0	5768	564	20	4	750	4	FBXO41	2	73491083	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	545683	73491083	169708290	156	10851										
TET3	200424	genome.wustl.edu	37	chr2	74275303	74275303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcccctttgctacccgttcCcccaagcaaatcaagattga	6	15	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:74275303C>T	ENST00000409262.3	+	1	1854	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	618					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTACCCGTTCCCCCAAGCAAA	0.592																																																	0													33	40	38					2																	74275303		1927	4132	6059	SO:0001819	synonymous_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1854C>T	2.37:g.74275303C>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.S618	ENST00000409262.3	37	c.1854	CCDS46339.1	2																																																																																			TET3	-	NULL		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74275303	1	no_errors	ENST00000409262	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74275303	C	T	74275303	2	4	74	1	0	0	0	0	0	0	0	1	15801	610	22	4		4	TET3	2	74275303	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	784220	74275303	168924070	157	10852										
ST3GAL5	8869	genome.wustl.edu	37	chr2	86090554	86090554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcgggtgtaccattgcaggGaaggcctcgagcaatcactt	12	11	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:86090554G>A	ENST00000377332.3	-	2	245	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.S18F|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.S46F|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.S23F|ST3GAL5_ENST00000484728.1_5'UTR	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	46					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCATTGCAGGGAAGGCCTCGA	0.507																																																	0													128	116	120					2																	86090554		2203	4300	6503	SO:0001583	missense	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.137C>T	2.37:g.86090554G>A	ENSP00000366549:p.Ser46Phe		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S46F	ENST00000377332.3	37	c.137	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909166	0.52439	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.56444	1.2;1.22;1.09;0.69;0.46	5.53	3.7	0.42460	.	0.571224	0.16061	N	0.231472	T	0.54334	0.1852	N	0.24115	0.695	0.29416	N	0.860862	D;D;B;B	0.71674	0.998;0.998;0.119;0.189	D;D;B;B	0.65443	0.935;0.935;0.077;0.16	T	0.50659	-0.8802	10	0.72032	D	0.01	-8.7253	8.9058	0.35523	0.1812:0.0:0.8188:0.0	.	46;46;46;23	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	F	23;18;46;18;46	ENSP00000377397:S23F;ENSP00000377394:S18F;ENSP00000366549:S46F;ENSP00000401375:S18F;ENSP00000433607:S46F	ENSP00000306247:S46F	S	-	2	0	ST3GAL5	85944065	0.999000	0.42202	0.938000	0.37757	0.967000	0.64934	1.430000	0.34914	1.457000	0.47850	0.650000	0.86243	TCC	ST3GAL5	-	NULL		0.507	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	HGNC	protein_coding	OTTHUMT00000252486.1	G	NM_003896		86090554	-1	no_errors	ENST00000377332	ensembl	human	known	70_37	missense	SNP	0.934	A	A	86090554	G	A	86090554	3	1	74	1	0	0	0	0	1	0	0	0	15248	1174	41	1	1143	1	ST3GAL5	2	86090554	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11815251	86090554	157108819	158	10853										
KDM3A	55818	genome.wustl.edu	37	chr2	86718364	86718364	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaggaattccgatatctgtCacagactcataccaatcacg	6	12	5	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:86718364C>T	ENST00000409556.1	+	26	4216	c.3851C>T	c.(3850-3852)tCa>tTa	p.S1284L	KDM3A_ENST00000542128.1_Missense_Mutation_p.S1232L|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1284L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1284L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1284					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S1284*(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CGATATCTGTCACAGACTCAT	0.403																																					NSCLC(96;1150 1523 6936 46253 49736)												2	Substitution - Nonsense(2)	upper_aerodigestive_tract(2)											112	109	110					2																	86718364		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3851C>T	2.37:g.86718364C>T	ENSP00000386660:p.Ser1284Leu		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S1284L	ENST00000409556.1	37	c.3851	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597157	0.87055	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	4.47	4.47	0.54385	.	0.102112	0.42821	D	0.000649	T	0.80008	0.4545	M	0.73962	2.25	0.80722	D	1	D;D	0.58268	0.981;0.982	P;P	0.62014	0.897;0.792	T	0.83084	-0.0136	10	0.72032	D	0.01	.	17.0111	0.86406	0.0:1.0:0.0:0.0	.	1232;1284	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	1284;1284;1284;1284;1232	ENSP00000386660:S1284L;ENSP00000323659:S1284L;ENSP00000386516:S1284L;ENSP00000438324:S1232L	ENSP00000323659:S1284L	S	+	2	0	KDM3A	86571875	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.427000	0.82271	0.655000	0.94253	TCA	KDM3A	-	NULL		0.403	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	C	NM_018433		86718364	1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86718364	C	T	86718364	3	4	74	1	0	0	0	0	1	0	0	0	8146	838	29	1	3945	1	KDM3A	2	86718364	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	627810	86718364	156481009	159	10854										
CD8B	926	genome.wustl.edu	37	chr2	87072069	87072069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcatgaaacgaagccgggctCtcctccgccggcctggaaga	12	14	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:87072069C>T	ENST00000390655.6	-	5	654	c.596G>A	c.(595-597)aGa>aAa	p.R199K	CD8B_ENST00000393761.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.R199K|CD8B_ENST00000431506.2_Missense_Mutation_p.R19K|CD8B_ENST00000331469.2_Missense_Mutation_p.R199K|CD8B_ENST00000349455.3_Missense_Mutation_p.R169K	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	199					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCCGGGCTCTCCTCCGCCG	0.612																																																	0													20	19	20					2																	87072069		2170	4211	6381	SO:0001583	missense	926				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.596G>A	2.37:g.87072069C>T	ENSP00000375070:p.Arg199Lys		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R199K	ENST00000390655.6	37	c.596	CCDS1997.1	2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869387	0.32977	.	.	ENSG00000172116	ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248;ENST00000431506	.	.	.	4.02	1.24	0.21308	.	0.109289	0.64402	N	0.000008	T	0.34366	0.0895	M	0.72576	2.205	0.09310	N	0.999992	B;B;B;B;B	0.31705	0.227;0.096;0.27;0.336;0.154	B;B;B;B;B	0.26969	0.034;0.021;0.059;0.075;0.048	T	0.18493	-1.0335	9	0.38643	T	0.18	-9.4547	6.103	0.20057	0.0:0.6733:0.0:0.3267	.	199;199;169;199;199	Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;CD8B_HUMAN;.;.;.	K	199;169;199;199;199;19	.	ENSP00000331172:R199K	R	-	2	0	CD8B	86925580	0.999000	0.42202	1.000000	0.80357	0.686000	0.39977	0.294000	0.19047	0.269000	0.21961	0.561000	0.74099	AGA	CD8B	-	NULL		0.612	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	C	NM_172099		87072069	-1	no_errors	ENST00000331469	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87072069	C	T	87072069	3	4	74	1	0	0	0	0	1	0	0	0	3050	913	32	1	318	1	CD8B	2	87072069	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	353705	87072069	156127304	160	10855										
RGPD1	729857	genome.wustl.edu	37	chr2	88082561	88082561	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtaaaggaacaacaggttCaaagtactgtccatctctct	8	9	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:88082561C>G	ENST00000398146.3	-	20	4204	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q	RGPD2_ENST00000494592.1_5'Flank|RGPD2_ENST00000327544.6_Missense_Mutation_p.E585Q|RGPD2_ENST00000420840.2_Missense_Mutation_p.E1320Q			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1328	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						ACAACAGGTTCAAAGTACTGT	0.398																																																	0													18	13	14					2																	88082561		1787	3674	5461	SO:0001583	missense	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.3982G>C	2.37:g.88082561C>G	ENSP00000381214:p.Glu1328Gln		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1328Q	ENST00000398146.3	37	c.3982	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	.	13.96	2.392366	0.42410	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.45668	0.9;0.89;2.04	2.35	2.35	0.29111	.	.	.	.	.	T	0.55940	0.1952	M	0.64997	1.995	0.37303	D	0.908773	D	0.53619	0.961	D	0.66351	0.943	T	0.61554	-0.7039	9	0.48119	T	0.1	-36.2617	10.4068	0.44266	0.0:1.0:0.0:0.0	.	1328	B4DYH0	.	Q	1328;1320;239;585	ENSP00000381214:E1328Q;ENSP00000413275:E1320Q;ENSP00000332727:E585Q	ENSP00000332727:E585Q	E	-	1	0	RGPD2	87863676	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.580000	0.82523	1.313000	0.45069	0.184000	0.17185	GAA	RGPD2	-	smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.398	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	C	NM_001078170		88082561	-1	no_errors	ENST00000398146	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88082561	C	G	88082561	3	3	74	1	0	0	0	0	1	0	0	0	13315	835	29	1	6643	1	RGPD1	2	88082561	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1010492	88082561	155116812	161	10856										
LMAN2L	81562	genome.wustl.edu	37	chr2	97377743	97377743	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agccgttgttcaccatggctGagatgtaggggaatacccgc	13	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:97377743G>A	ENST00000264963.4	-	5	549	c.527C>T	c.(526-528)tCa>tTa	p.S176L	LMAN2L_ENST00000537039.1_Missense_Mutation_p.S38L|LMAN2L_ENST00000426463.2_Missense_Mutation_p.S42L|LMAN2L_ENST00000377079.4_Missense_Mutation_p.S187L|LMAN2L_ENST00000534882.1_Missense_Mutation_p.S31L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	176	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CACCATGGCTGAGATGTAGGG	0.542																																																	0													57	56	56					2																	97377743		2203	4300	6503	SO:0001583	missense	81562			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.527C>T	2.37:g.97377743G>A	ENSP00000264963:p.Ser176Leu		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Nonsense_Mutation	SNP	NULL	p.Q109*	ENST00000264963.4	37	c.325	CCDS2023.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.282028	0.95489	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.070621	0.64402	D	0.000013	T	0.74291	0.3697	L	0.52364	1.645	0.58432	D	0.999999	P;D;P;D;P	0.89917	0.936;0.963;0.936;1.0;0.936	P;D;P;D;P	0.75020	0.761;0.924;0.761;0.985;0.829	T	0.65207	-0.6224	10	0.18276	T	0.48	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	31;49;42;187;176	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	L	176;187;42;38;31	ENSP00000264963:S176L;ENSP00000366280:S187L;ENSP00000396391:S42L;ENSP00000441701:S38L;ENSP00000438501:S31L	ENSP00000264963:S176L	S	-	2	0	LMAN2L	96741470	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.366000	0.73095	2.941000	0.99782	0.655000	0.94253	TCA	LMAN2L	-	NULL		0.542	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1	G	NM_030805		97377743	-1	no_errors	ENST00000440610	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	97377743	G	A	97377743	3	1	74	1	0	0	0	0	1	0	0	0	8860	1294	45	1	535	1	LMAN2L	2	97377743	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	9295182	97377743	145821630	162	10857										
SEMA4C	54910	genome.wustl.edu	37	chr2	97533520	97533520	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctccaggcactcacccccaGaagacactgtcttacgcggc	8	18	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:97533520G>A	ENST00000305476.5	-	2	236	c.104C>T	c.(103-105)tCt>tTt	p.S35F		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	35	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTCACCCCCAGAAGACACTGT	0.622																																																	0													158	146	150					2																	97533520		2203	4300	6503	SO:0001583	missense	54910			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.104C>T	2.37:g.97533520G>A	ENSP00000306844:p.Ser35Phe		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.S35F	ENST00000305476.5	37	c.104	CCDS2029.1	2	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122770	0.20877	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.42513	1.59;0.97;0.97	4.3	3.34	0.38264	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.474856	0.17768	N	0.162688	T	0.17577	0.0422	N	0.03238	-0.38	0.34009	D	0.651224	B	0.12630	0.006	B	0.08055	0.003	T	0.19224	-1.0312	10	0.18710	T	0.47	.	8.435	0.32782	0.0:0.0:0.7485:0.2515	.	35	Q9C0C4	SEM4C_HUMAN	F	35	ENSP00000306844:S35F;ENSP00000393498:S35F;ENSP00000391094:S35F	ENSP00000306844:S35F	S	-	2	0	SEMA4C	96897247	0.994000	0.37717	1.000000	0.80357	0.836000	0.47400	1.037000	0.30241	2.224000	0.72417	0.491000	0.48974	TCT	SEMA4C	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.622	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	G	NM_017789		97533520	-1	no_errors	ENST00000305476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	97533520	G	A	97533520	3	1	74	1	0	0	0	0	1	0	0	0	14063	942	33	1	2453	1	SEMA4C	2	97533520	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	155777	97533520	145665853	163	10858										
TMEM131	23505	genome.wustl.edu	37	chr2	98449874	98449874	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatttaataaatgaaggtttAaaacttttggtagatctgtt	7	2	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:98449874A>C	ENST00000186436.5	-	11	1256	c.1028T>G	c.(1027-1029)tTa>tGa	p.L343*	TMEM131_ENST00000425805.2_Nonsense_Mutation_p.L294*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	343						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATGAAGGTTTAAAACTTTTGG	0.249																																																	0													22	22	22					2																	98449874		1766	4013	5779	SO:0001587	stop_gained	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1028T>G	2.37:g.98449874A>C	ENSP00000186436:p.Leu343*			Nonsense_Mutation	SNP	pfam_DUF3651_TMEM131	p.L343*	ENST00000186436.5	37	c.1028	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	A	32	5.135072	0.94517	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7102	16.2421	0.82418	1.0:0.0:0.0:0.0	.	.	.	.	X	343;294	.	ENSP00000186436:L343X	L	-	2	0	TMEM131	97816306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.415000	0.90241	2.234000	0.73211	0.533000	0.62120	TTA	TMEM131	-	NULL		0.249	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	A	XM_371542		98449874	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	98449874	A	C	98449874	4	2	74	1	0	0	0	0	0	1	0	0	16074	372	13	5	4747	5	TMEM131	2	98449874	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	916354	98449874	144749499	164	10859										
CNGA3	1261	genome.wustl.edu	37	chr2	98986443	98986443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgacaaaccgagaagatggCcaagatcaacacccaatact	8	11	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:98986443C>T	ENST00000272602.2	+	1	44	c.5C>T	c.(4-6)gCc>gTc	p.A2V	CNGA3_ENST00000436404.2_Missense_Mutation_p.A2V|CNGA3_ENST00000393504.1_Missense_Mutation_p.A2V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	2					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGAAGATGGCCAAGATCAAC	0.498																																																	0													151	121	131					2																	98986443		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.5C>T	2.37:g.98986443C>T	ENSP00000272602:p.Ala2Val		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A2V	ENST00000272602.2	37	c.5	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188391	0.78789	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	D;D;D	0.98585	-5.01;-4.74;-5.01	4.1	4.1	0.47936	.	.	.	.	.	D	0.97306	0.9119	L	0.54323	1.7	0.42735	D	0.993723	P;B	0.51057	0.941;0.278	P;B	0.49597	0.616;0.051	D	0.97338	0.9955	9	0.72032	D	0.01	.	12.0164	0.53317	0.0:1.0:0.0:0.0	.	2;2	Q4VAP7;Q16281	.;CNGA3_HUMAN	V	2	ENSP00000377140:A2V;ENSP00000410070:A2V;ENSP00000272602:A2V	ENSP00000272602:A2V	A	+	2	0	CNGA3	98352875	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.966000	0.56795	2.291000	0.77112	0.655000	0.94253	GCC	CNGA3	-	NULL		0.498	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	C	NM_001298		98986443	1	no_errors	ENST00000272602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98986443	C	T	98986443	3	4	74	1	0	0	0	0	1	0	0	0	3603	739	26	4	7	4	CNGA3	2	98986443	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	536569	98986443	144212930	165	10860										
INPP4A	3631	genome.wustl.edu	37	chr2	99182207	99182207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccagcgcctccgcagacatgCtgcccgtcatcacaggaaat	9	16	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:99182207C>A	ENST00000523221.1	+	19	2272	c.2272C>A	c.(2272-2274)Ctg>Atg	p.L758M	INPP4A_ENST00000409016.4_Missense_Mutation_p.L719M|INPP4A_ENST00000409463.1_Missense_Mutation_p.L87M|INPP4A_ENST00000074304.5_Missense_Mutation_p.L758M|INPP4A_ENST00000409851.3_Missense_Mutation_p.L753M|INPP4A_ENST00000409540.3_Missense_Mutation_p.L719M|INPP4A_ENST00000545415.1_Missense_Mutation_p.L719M			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	758					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGCAGACATGCTGCCCGTCAT	0.502																																																	0													76	82	80					2																	99182207		2066	4214	6280	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2272C>A	2.37:g.99182207C>A	ENSP00000427722:p.Leu758Met		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L758M	ENST00000523221.1	37	c.2272	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846002	0.91277	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.47177	1.74;2.09;0.85;2.09;1.74;1.71;2.09	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.61048	0.2316	L	0.42245	1.32	0.80722	D	1	D;D;P;D;D	0.71674	0.993;0.997;0.57;0.998;0.998	P;D;B;D;D	0.68943	0.858;0.94;0.295;0.961;0.961	T	0.56884	-0.7905	10	0.39692	T	0.17	-14.4896	18.0234	0.89261	0.0:1.0:0.0:0.0	.	719;719;87;758;753	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	M	719;753;87;758;719;719;758	ENSP00000386704:L719M;ENSP00000386777:L753M;ENSP00000386329:L87M;ENSP00000074304:L758M;ENSP00000442149:L719M;ENSP00000387294:L719M;ENSP00000427722:L758M	ENSP00000074304:L758M	L	+	1	2	INPP4A	98548639	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.638000	0.61353	2.744000	0.94065	0.563000	0.77884	CTG	INPP4A	-	NULL		0.502	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	C	NM_001566		99182207	1	no_errors	ENST00000074304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99182207	C	A	99182207	3	1	74	1	0	0	0	0	1	0	0	0	7772	796	28	4	2346	4	INPP4A	2	99182207	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	195764	99182207	144017166	166	10861										
NMS	129521	genome.wustl.edu	37	chr2	101097609	101097609	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcacactgcgacctggggaCgaccctttttccttttcagg	9	13	2	0	rs142655356		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:101097609C>T	ENST00000376865.1	+	8	401	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	132					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GACCTGGGGACGACCCTTTTT	0.423																																																	0								C	stop/ARG	0,4406		0,0,2203	296	280	285		394	-1.8	0	2	dbSNP_134	285	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	NMS	NM_001011717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		132/154	101097609	1,13005	2203	4300	6503	SO:0001587	stop_gained	129521			AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.394C>T	2.37:g.101097609C>T	ENSP00000366061:p.Arg132*			Nonsense_Mutation	SNP	pfam_NMU_C	p.R132*	ENST00000376865.1	37	c.394	CCDS33259.1	2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009680	0.35415	0.0	1.16E-4	ENSG00000204640	ENST00000376865	.	.	.	4.93	-1.78	0.07957	.	0.166652	0.35708	N	0.003033	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7451	5.684	0.17792	0.5534:0.2851:0.0:0.1615	.	.	.	.	X	132	.	ENSP00000366061:R132X	R	+	1	2	NMS	100464041	0.156000	0.22821	0.013000	0.15412	0.460000	0.32559	-0.532000	0.06164	-0.468000	0.06922	0.655000	0.94253	CGA	NMS	-	pfam_NMU_C		0.423	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMS	HGNC	protein_coding	OTTHUMT00000329737.1	C	NM_001011717		101097609	1	no_errors	ENST00000376865	ensembl	human	known	70_37	nonsense	SNP	0.042	T	T	101097609	C	T	101097609	4	4	74	1	0	0	0	0	0	1	0	0	10526	528	19	2	424	2	NMS	2	101097609	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1915402	101097609	142101764	167	10862										
SLC9A2	6549	genome.wustl.edu	37	chr2	103274408	103274408	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgtggctgtgcttgctgtCtttgagaacattcacgtcaa	10	10	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:103274408C>T	ENST00000233969.2	+	2	817	c.675C>T	c.(673-675)gtC>gtT	p.V225V		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	225					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTTGCTGTCTTTGAGAACA	0.502																																																	0													224	200	208					2																	103274408		2203	4300	6503	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.675C>T	2.37:g.103274408C>T			B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V225	ENST00000233969.2	37	c.675	CCDS2062.1	2																																																																																			SLC9A2	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.502	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103274408	1	no_errors	ENST00000233969	ensembl	human	known	70_37	silent	SNP	1.000	T	T	103274408	C	T	103274408	2	4	74	1	0	0	0	0	0	0	0	1	14742	900	32	1		1	SLC9A2	2	103274408	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2176799	103274408	139924965	168	10863										
RGPD4	285190	genome.wustl.edu	37	chr2	108443524	108443524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgcctccgtgcagggctccGccccgtcgcctcgaaaggtg	13	17	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:108443524G>A	ENST00000408999.3	+	1	132	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Missense_Mutation_p.A19T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	19					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGGGCTCCGCCCCGTCGCC	0.711																																																	0													41	61	55					2																	108443524		692	1590	2282	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.55G>A	2.37:g.108443524G>A	ENSP00000386810:p.Ala19Thr		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A19T	ENST00000408999.3	37	c.55	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	2.675	-0.276682	0.05679	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.39406	1.08;1.08	2.33	1.42	0.22433	.	.	.	.	.	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	0.999993	B	0.26120	0.142	B	0.10450	0.005	T	0.18023	-1.0350	9	0.25106	T	0.35	0.0	6.4478	0.21885	0.1575:0.0:0.8425:0.0	.	19	Q7Z3J3	RGPD4_HUMAN	T	19	ENSP00000347081:A19T;ENSP00000386810:A19T	ENSP00000347081:A19T	A	+	1	0	RGPD4	107809956	0.043000	0.20138	0.078000	0.20375	0.008000	0.06430	1.422000	0.34826	0.098000	0.17522	-1.139000	0.01908	GCC	RGPD4	-	NULL		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108443524	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.521	A	A	108443524	G	A	108443524	3	1	74	1	0	0	0	0	1	0	0	0	13318	1087	38	2	57	2	RGPD4	2	108443524	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5169116	108443524	134755849	169	10864										
BUB1	699	genome.wustl.edu	37	chr2	111415990	111415990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttttaaatagttattactttGaaactgggcttcaaatgcat	6	5	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:111415990G>C	ENST00000302759.6	-	13	1631	c.1513C>G	c.(1513-1515)Caa>Gaa	p.Q505E	BUB1_ENST00000535254.1_Missense_Mutation_p.Q485E|BUB1_ENST00000409311.1_Missense_Mutation_p.Q505E	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	505					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTATTACTTTGAAACTGGGCT	0.343																																																	0													72	69	70					2																	111415990		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1513C>G	2.37:g.111415990G>C	ENSP00000302530:p.Gln505Glu		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.Q505E	ENST00000302759.6	37	c.1513	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311333	0.23821	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.28666	2.32;1.6;2.59	6.07	5.14	0.70334	.	0.400623	0.27402	N	0.019531	T	0.18841	0.0452	L	0.54323	1.7	0.27984	N	0.935919	P;P;P	0.49961	0.792;0.93;0.731	B;B;B	0.36134	0.194;0.218;0.13	T	0.29701	-1.0003	10	0.02654	T	1	.	7.2191	0.25977	0.0827:0.0:0.7474:0.1698	.	485;505;505	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	E	485;505;505;505	ENSP00000441013:Q485E;ENSP00000386701:Q505E;ENSP00000302530:Q505E	ENSP00000302530:Q505E	Q	-	1	0	BUB1	111132463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.556000	0.45862	2.890000	0.99128	0.650000	0.86243	CAA	BUB1	-	NULL		0.343	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	G	NM_004336		111415990	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111415990	G	C	111415990	3	2	74	1	0	0	0	0	1	0	0	0	1573	1299	45	1	1796	1	BUB1	2	111415990	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2972466	111415990	131783383	170	10865										
BUB1	699	genome.wustl.edu	37	chr2	111431774	111431774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagtattctttattctcaggAaaattctcttctacccactg	4	10	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:111431774A>C	ENST00000302759.6	-	3	232	c.114T>G	c.(112-114)ttT>ttG	p.F38L	BUB1_ENST00000535254.1_Missense_Mutation_p.F18L|BUB1_ENST00000409311.1_Missense_Mutation_p.F38L	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	38	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for kinetochore localization.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TATTCTCAGGAAAATTCTCTT	0.284																																																	0													64	67	66					2																	111431774		2196	4297	6493	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.114T>G	2.37:g.111431774A>C	ENSP00000302530:p.Phe38Leu		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.F38L	ENST00000302759.6	37	c.114	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363259	0.41902	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328;ENST00000436916	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04	5.43	4.27	0.50696	Mad3/BUB1 homology region 1 (3);	0.123243	0.56097	D	0.000039	T	0.51941	0.1704	L	0.45698	1.435	0.29831	N	0.83	P;B;P	0.36683	0.503;0.301;0.565	B;B;B	0.39027	0.173;0.106;0.288	T	0.49322	-0.8952	10	0.23891	T	0.37	-20.4985	6.908	0.24319	0.8205:0.0:0.1795:0.0	.	18;38;38	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	L	18;38;38;38;29;29;29	ENSP00000441013:F18L;ENSP00000386701:F38L;ENSP00000302530:F38L;ENSP00000402883:F29L;ENSP00000409713:F29L;ENSP00000392219:F29L	ENSP00000302530:F38L	F	-	3	2	BUB1	111148245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.847000	0.39299	0.906000	0.36621	0.454000	0.30748	TTT	BUB1	-	pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I		0.284	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	A	NM_004336		111431774	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111431774	A	C	111431774	3	2	74	1	0	0	0	0	1	0	0	0	1573	243	9	5	3235	5	BUB1	2	111431774	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	15784	111431774	131767599	171	10866										
IL1F7	27178	genome.wustl.edu	37	chr2	113670647	113670647	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctctgaggactgggaaaaaGatgaaccccagtgctgctta	12	9	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:113670647G>A	ENST00000263326.3	+	1	100	c.58G>A	c.(58-60)Gat>Aat	p.D20N	IL37_ENST00000353225.3_Missense_Mutation_p.D20N|IL37_ENST00000352179.3_Missense_Mutation_p.D20N|IL37_ENST00000349806.3_Missense_Mutation_p.D20N|IL37_ENST00000311328.2_5'Flank	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	20					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CTGGGAAAAAGATGAACCCCA	0.438																																																	0													88	87	87					2																	113670647		2203	4300	6503	SO:0001583	missense	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.58G>A	2.37:g.113670647G>A	ENSP00000263326:p.Asp20Asn		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	p.D20N	ENST00000263326.3	37	c.58	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	g	15.77	2.932352	0.52866	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	2.65	2.65	0.31530	.	.	.	.	.	T	0.70133	0.3189	L	0.54323	1.7	0.25043	N	0.991188	D;D;D;D	0.71674	0.97;0.998;0.998;0.997	P;P;D;P	0.63703	0.801;0.881;0.917;0.763	T	0.57613	-0.7781	9	0.87932	D	0	-4.389	8.9707	0.35905	0.0:0.0:1.0:0.0	.	20;20;20;20	Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;IL37_HUMAN	N	20	ENSP00000263326:D20N;ENSP00000263327:D20N;ENSP00000263328:D20N;ENSP00000309208:D20N	ENSP00000263326:D20N	D	+	1	0	IL37	113387118	0.005000	0.15991	0.044000	0.18714	0.057000	0.15508	0.711000	0.25764	1.813000	0.52934	0.558000	0.71614	GAT	IL37	-	NULL		0.438	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	G	NM_014439		113670647	1	no_errors	ENST00000263326	ensembl	human	known	70_37	missense	SNP	0.059	A	A	113670647	G	A	113670647	3	1	74	1	0	0	0	0	1	0	0	0	7675	942	33	1	60	1	IL1F7	2	113670647	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2238873	113670647	129528726	172	10867										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125281944	125281944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccaggaggaaccgcatcacGctcactctggatgatgaagc	12	12	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:125281944G>A	ENST00000431078.1	+	9	1753	c.1389G>A	c.(1387-1389)acG>acA	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493																																																	2	Substitution - coding silent(2)	lung(2)											72	77	75					2																	125281944		2058	4213	6271	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1389G>A	2.37:g.125281944G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T463	ENST00000431078.1	37	c.1389	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	G			125281944	1	no_errors	ENST00000431078	ensembl	human	known	70_37	silent	SNP	0.781	A	A	125281944	G	A	125281944	2	1	74	1	0	0	0	0	0	0	0	1	3655	1074	38	2		2	CNTNAP5	2	125281944	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11611297	125281944	117917429	173	10868										
WDR33	55339	genome.wustl.edu	37	chr2	128479457	128479457	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taatgtagccatttcttgctCaatttctgcttgtgtttttt	6	7	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:128479457C>G	ENST00000322313.4	-	15	1782	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	542					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTTGCTCAATTTCTGCT	0.393																																																	0													257	230	239					2																	128479457		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1624G>C	2.37:g.128479457C>G	ENSP00000325377:p.Glu542Gln		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E542Q	ENST00000322313.4	37	c.1624	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073327	0.76415	.	.	ENSG00000136709	ENST00000322313	T	0.17370	2.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00964	-1.1498	10	0.37606	T	0.19	-15.5112	19.8636	0.96797	0.0:1.0:0.0:0.0	.	542	Q9C0J8	WDR33_HUMAN	Q	542	ENSP00000325377:E542Q	ENSP00000325377:E542Q	E	-	1	0	WDR33	128195927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.001000	0.76297	2.694000	0.91930	0.655000	0.94253	GAG	WDR33	-	NULL		0.393	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128479457	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128479457	C	G	128479457	3	3	74	1	0	0	0	0	1	0	0	0	17318	835	29	1	2418	1	WDR33	2	128479457	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3197513	128479457	114719916	174	10869										
CCDC74A	90557	genome.wustl.edu	37	chr2	132288337	132288337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcggtagcgccgacactgtgCgctctcctgcagacagcctc	12	16	1	1	rs139046834	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:132288337C>T	ENST00000295171.6	+	3	619	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.R263C	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	161										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGACACTGTGCGCTCTCCTGC	0.632													c|||	6	0.00119808	0	0.0029	5008	,	,		16198	0		0.004	False		,,,				2504	0																0								C	CYS/ARG	4,4400		0,4,2198	71	75	73		481	-1	0	2	dbSNP_134	73	36,8564		0,36,4264	no	missense	CCDC74A	NM_138770.1	180	0,40,6462	TT,TC,CC		0.4186,0.0908,0.3076	possibly-damaging	161/379	132288337	40,12964	2202	4300	6502	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.481C>T	2.37:g.132288337C>T	ENSP00000295171:p.Arg161Cys		Q6P4I5	Missense_Mutation	SNP	NULL	p.R161C	ENST00000295171.6	37	c.481	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	5.233	0.228432	0.09916	9.08E-4	0.004186	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.52057	1.81;0.68	0.915	-0.982	0.10266	.	.	.	.	.	T	0.22282	0.0537	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	B	0.34991	0.193	T	0.19031	-1.0318	9	0.72032	D	0.01	.	3.4598	0.07528	0.0:0.5299:0.0:0.4701	.	161	Q96AQ1	CC74A_HUMAN	C	161;263	ENSP00000295171:R161C;ENSP00000444610:R263C	ENSP00000295171:R161C	R	+	1	0	CCDC74A	132004807	0.000000	0.05858	0.020000	0.16555	0.131000	0.20780	-2.659000	0.00852	-0.309000	0.08779	0.194000	0.17425	CGC	CCDC74A	-	NULL		0.632	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	C	NM_138770		132288337	1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.042	T	T	132288337	C	T	132288337	3	4	74	1	0	0	0	0	1	0	0	0	2852	768	27	2	491	2	CCDC74A	2	132288337	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3808880	132288337	110911036	175	10870										
CCNT2	905	genome.wustl.edu	37	chr2	135711370	135711370	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcgtaaactagaaactcttGatctcgatgtaagggatcat	9	7	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:135711370G>C	ENST00000264157.5	+	9	1375	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	CCNT2_ENST00000537343.1_Missense_Mutation_p.D274H|CCNT2_ENST00000295238.6_Missense_Mutation_p.D449H	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	449					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGAAACTCTTGATCTCGATGT	0.428																																																	0													54	56	55					2																	135711370		2203	4300	6503	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1345G>C	2.37:g.135711370G>C	ENSP00000264157:p.Asp449His		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.D449H	ENST00000264157.5	37	c.1345	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067234	0.36470	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.24151	1.88;1.87	5.71	5.71	0.89125	.	0.141884	0.64402	D	0.000006	T	0.31482	0.0798	N	0.22421	0.69	0.42411	D	0.9926	B;P;P	0.47409	0.32;0.661;0.895	B;B;P	0.50860	0.351;0.332;0.652	T	0.05517	-1.0880	10	0.87932	D	0	.	19.8769	0.96880	0.0:0.0:1.0:0.0	.	274;449;449	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	H	274;449;449	ENSP00000295238:D449H;ENSP00000264157:D449H	ENSP00000264157:D449H	D	+	1	0	CCNT2	135427840	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.728000	0.74769	2.712000	0.92718	0.650000	0.86243	GAT	CCNT2	-	NULL		0.428	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	G	NM_058241		135711370	1	no_errors	ENST00000264157	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135711370	G	C	135711370	3	2	74	1	0	0	0	0	1	0	0	0	2940	1290	45	1	1379	1	CCNT2	2	135711370	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3423033	135711370	107488003	176	10871										
RIF1	55183	genome.wustl.edu	37	chr2	152266964	152266964	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccaggggtcagagccccctCgcgccgctgttggagacttt	14	14	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:152266964C>T	ENST00000243326.5	+	1	510	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RIF1_ENST00000444746.2_Silent_p.L9L|RIF1_ENST00000433166.2_Silent_p.L9L|RIF1_ENST00000453091.2_Silent_p.L9L|RIF1_ENST00000428287.2_Silent_p.L9L|RIF1_ENST00000430328.2_Silent_p.L9L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAGCCCCCTCGCGCCGCTGT	0.652											OREG0015013	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27	32	30					2																	152266964		2203	4300	6503	SO:0001819	synonymous_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.27C>T	2.37:g.152266964C>T		1746	A0AVS0|Q9NS16	Silent	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.L9	ENST00000243326.5	37	c.27	CCDS2194.1	2																																																																																			RIF1	-	superfamily_ARM-type_fold		0.652	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	C			152266964	1	no_errors	ENST00000243326	ensembl	human	known	70_37	silent	SNP	0.010	T	T	152266964	C	T	152266964	2	4	74	1	0	0	0	0	0	0	0	1	13389	871	31	1		1	RIF1	2	152266964	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	16555594	152266964	90932409	177	10872										
ARL5A	26225	genome.wustl.edu	37	chr2	152663369	152663369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcacagcatgcctggatatGccactggtgatctttaatag	10	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:152663369G>A	ENST00000295087.8	-	5	768	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	ARL5A_ENST00000428992.2_Missense_Mutation_p.H116Y	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	153					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		GCCTGGATATGCCACTGGTGA	0.358																																																	0													91	83	86					2																	152663369		2203	4300	6503	SO:0001583	missense	26225			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	696	protein-coding gene	gene with protein product		608960	"ADP-ribosylation factor-like 5"	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.457C>T	2.37:g.152663369G>A	ENSP00000295087:p.His153Tyr		Q580I5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H153Y	ENST00000295087.8	37	c.457	CCDS2195.1	2	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884177	0.72410	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	T;T	0.81247	-1.47;-1.47	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78104	-0.2334	10	0.02654	T	1	-18.5083	19.6	0.95557	0.0:0.0:1.0:0.0	.	153	Q9Y689	ARL5A_HUMAN	Y	153;116;116	ENSP00000295087:H153Y;ENSP00000415950:H116Y	ENSP00000295087:H153Y	H	-	1	0	ARL5A	152371615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.640000	0.89533	0.561000	0.74099	CAT	ARL5A	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF		0.358	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1	G			152663369	-1	no_errors	ENST00000295087	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152663369	G	A	152663369	3	1	74	1	0	0	0	0	1	0	0	0	940	1319	46	4	90	4	ARL5A	2	152663369	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	396405	152663369	90536004	178	10873										
CACNB4	785	genome.wustl.edu	37	chr2	152717265	152717265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaacgttcaattattgctctCttgctgggattatttaggac	9	7	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:152717265C>G	ENST00000539935.1	-	10	895	c.828G>C	c.(826-828)aaG>aaC	p.K276N	CACNB4_ENST00000397327.2_Missense_Mutation_p.K229N|CACNB4_ENST00000427385.1_Missense_Mutation_p.K258N|CACNB4_ENST00000534999.1_Missense_Mutation_p.K242N|CACNB4_ENST00000360283.6_Missense_Mutation_p.K243N|CACNB4_ENST00000201943.5_Missense_Mutation_p.K276N	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	276					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTATTGCTCTCTTGCTGGGAT	0.443																																																	0													169	160	163					2																	152717265		1885	4119	6004	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.828G>C	2.37:g.152717265C>G	ENSP00000438949:p.Lys276Asn		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.K277N	ENST00000539935.1	37	c.831	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003197	0.74932	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.82	4.05	0.47172	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.992;0.997	D;D;P;D	0.83275	0.994;0.996;0.903;0.993	D	0.91462	0.5190	10	0.66056	D	0.02	-22.1884	12.8824	0.58024	0.0:0.8804:0.0:0.1196	.	276;276;258;242	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	N	276;243;233;271;242;229;258;276;277	ENSP00000438949:K276N;ENSP00000353425:K243N;ENSP00000390161:K271N;ENSP00000443893:K242N;ENSP00000380490:K229N;ENSP00000410978:K258N;ENSP00000201943:K276N	ENSP00000201943:K276N	K	-	3	2	CACNB4	152425511	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.064000	0.57506	0.820000	0.34516	-1.028000	0.02416	AAG	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel		0.443	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3		152717265	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152717265	C	G	152717265	3	3	74	1	0	0	0	0	1	0	0	0	2560	912	32	1	754	1	CACNB4	2	152717265	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	53896	152717265	90482108	179	10874										
ACVR1C	130399	genome.wustl.edu	37	chr2	158395204	158395204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ataataaggcaattggtactCctcaacaattcctgtaagaa	6	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:158395204C>T	ENST00000243349.8	-	8	1597	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ACVR1C_ENST00000409680.3_Missense_Mutation_p.E363K|ACVR1C_ENST00000335450.7_Missense_Mutation_p.E333K|ACVR1C_ENST00000348328.5_Missense_Mutation_p.E256K	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AATTGGTACTCCTCAACAATT	0.338																																																	0													87	86	86					2																	158395204		2203	4300	6503	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1237G>A	2.37:g.158395204C>T	ENSP00000243349:p.Glu413Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E413K	ENST00000243349.8	37	c.1237	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.499857	0.96355	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115270	0.38217	N	0.001762	D	0.95723	0.8609	M	0.71036	2.16	0.80722	D	1	D;P;P	0.54772	0.968;0.892;0.576	P;P;P	0.56960	0.81;0.551;0.457	D	0.95969	0.8968	10	0.87932	D	0	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	256;333;413	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	K	413;363;256;333	ENSP00000243349:E413K;ENSP00000387168:E363K;ENSP00000335139:E256K;ENSP00000335178:E333K	ENSP00000243349:E413K	E	-	1	0	ACVR1C	158103450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.590000	0.87494	0.650000	0.86243	GAG	ACVR1C	-	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		0.338	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	C	NM_145259		158395204	-1	no_errors	ENST00000243349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158395204	C	T	158395204	3	4	74	1	0	0	0	0	1	0	0	0	222	864	30	1	252	1	ACVR1C	2	158395204	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5677939	158395204	84804169	180	10875										
TANC1	85461	genome.wustl.edu	37	chr2	160074021	160074021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctttagccctgactgccgcCgcaggaagagggaagctgga	14	12	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:160074021C>T	ENST00000263635.6	+	20	3495	c.3258C>T	c.(3256-3258)gcC>gcT	p.A1086A	TANC1_ENST00000454300.1_Silent_p.A980A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1086					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACTGCCGCCGCAGGAAGAG	0.547																																																	0													107	116	113					2																	160074021		2043	4218	6261	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3258C>T	2.37:g.160074021C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A1086	ENST00000263635.6	37	c.3258	CCDS42766.1	2																																																																																			TANC1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.547	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	C			160074021	1	no_errors	ENST00000263635	ensembl	human	known	70_37	silent	SNP	0.056	T	T	160074021	C	T	160074021	2	4	74	1	0	0	0	0	0	0	0	1	15574	639	23	2		2	TANC1	2	160074021	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1678817	160074021	83125352	181	10876										
BAZ2B	29994	genome.wustl.edu	37	chr2	160310196	160310196	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtccccaaaccaccaaattCtgaatgccctgagctggctg	8	14	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:160310196C>T	ENST00000392783.2	-	4	757	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E88K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E88K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E88K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCACCAAATTCTGAATGCCCT	0.502																																																	0													96	97	97					2																	160310196		1951	4146	6097	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.262G>A	2.37:g.160310196C>T	ENSP00000376534:p.Glu88Lys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E88K	ENST00000392783.2	37	c.262	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309125	0.81247	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000437839	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.46	5.46	0.80206	.	.	.	.	.	T	0.53818	0.1820	L	0.59436	1.845	0.41997	D	0.990873	B;D;D;D	0.67145	0.004;0.996;0.996;0.993	B;D;D;D	0.77557	0.016;0.99;0.99;0.978	T	0.55679	-0.8103	9	0.87932	D	0	-12.213	18.0617	0.89379	0.0:1.0:0.0:0.0	.	88;88;88;88	Q6MZK7;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	K	88	ENSP00000376533:E88K;ENSP00000376534:E88K;ENSP00000348087:E88K;ENSP00000339670:E88K;ENSP00000415613:E88K	ENSP00000339670:E88K	E	-	1	0	BAZ2B	160018442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	2.556000	0.86216	0.655000	0.94253	GAA	BAZ2B	-	NULL		0.502	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160310196	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	T	T	160310196	C	T	160310196	3	4	74	1	0	0	0	0	1	0	0	0	1333	922	32	1	6380	1	BAZ2B	2	160310196	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	236175	160310196	82889177	182	10877										
FIGN	55137	genome.wustl.edu	37	chr2	164467451	164467451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcaataggtgtcaaaccatgGccctggtaggtgtagccagg	14	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:164467451G>A	ENST00000333129.3	-	3	1205	c.891C>T	c.(889-891)ggC>ggT	p.G297G	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	297					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCAAACCATGGCCCTGGTAGG	0.572																																																	0													51	55	54					2																	164467451		1990	4156	6146	SO:0001819	synonymous_variant	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.891C>T	2.37:g.164467451G>A			B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.G297	ENST00000333129.3	37	c.891	CCDS2221.2	2																																																																																			FIGN	-	NULL		0.572	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164467451	-1	no_errors	ENST00000333129	ensembl	human	known	70_37	silent	SNP	0.998	A	A	164467451	G	A	164467451	2	1	74	1	0	0	0	0	0	0	0	1	5909	1190	42	4		4	FIGN	2	164467451	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4157255	164467451	78731922	183	10878										
SCN2A	6326	genome.wustl.edu	37	chr2	166170502	166170502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taataaatttgatcttggctGtggtggccatggcctatgag	12	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:166170502G>A	ENST00000375437.2	+	10	1557	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	SCN2A_ENST00000375427.2_Missense_Mutation_p.V423M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V423M|SCN2A_ENST00000283256.6_Missense_Mutation_p.V423M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	423					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTTGGCTGTGGTGGCCAT	0.433																																																	0													88	86	87					2																	166170502		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1267G>A	2.37:g.166170502G>A	ENSP00000364586:p.Val423Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V423M	ENST00000375437.2	37	c.1267	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960565	0.92791	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.99691	0.9883	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97332	0.9951	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	423;423	Q99250-2;Q99250	.;SCN2A_HUMAN	M	423	ENSP00000406454:V423M;ENSP00000364586:V423M;ENSP00000349973:V423M;ENSP00000283256:V423M;ENSP00000364576:V423M	ENSP00000283256:V423M	V	+	1	0	SCN2A	165878748	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GTG	SCN2A	-	pfam_Ion_trans_dom		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166170502	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166170502	G	A	166170502	3	1	74	1	0	0	0	0	1	0	0	0	13946	1377	48	4	1397	4	SCN2A	2	166170502	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1703051	166170502	77028871	184	10879										
TTC21B	79809	genome.wustl.edu	37	chr2	166799846	166799846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaagccatgctttcaaaacGtgtccctgtaaaatgaataa	6	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:166799846G>A	ENST00000243344.7	-	5	572	c.435C>T	c.(433-435)caC>caT	p.H145H	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	145					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTTCAAAACGTGTCCCTGTA	0.313																																																	0													71	64	67					2																	166799846		2203	4300	6503	SO:0001819	synonymous_variant	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.435C>T	2.37:g.166799846G>A			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H145	ENST00000243344.7	37	c.435	CCDS33315.1	2																																																																																			TTC21B	-	NULL		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	G	NM_024753		166799846	-1	no_errors	ENST00000243344	ensembl	human	known	70_37	silent	SNP	0.000	A	A	166799846	G	A	166799846	2	1	74	1	0	0	0	0	0	0	0	1	16719	1136	40	2		2	TTC21B	2	166799846	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	629344	166799846	76399527	185	10880										
SCN9A	6335	genome.wustl.edu	37	chr2	167056375	167056375	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaatcagctagaaacatacCtgtatgtggaggaaaataat	8	6	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:167056375C>A	ENST00000409435.1	-	26	4774		c.e26-1		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Splice_Site|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000375387.4_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAACATACCTGTATGTGGA	0.368																																																	0													67	74	71					2																	167056375		2203	4300	6503	SO:0001630	splice_region_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4775-1G>T	2.37:g.167056375C>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	-	e26-1	ENST00000409435.1	37	c.4778-1	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709849	0.48517	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9095	0.97021	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166764621	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	7.670000	0.83925	2.701000	0.92244	0.650000	0.86243	.	SCN9A	-	-		0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977	Intron	167056375	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	167056375	C	A	167056375	5	1	74	1	0	0	0	0	0	0	1	0	13955	695	24	4	1196	4	SCN9A	2	167056375	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	256529	167056375	76142998	186	10881										
GAD1	2571	genome.wustl.edu	37	chr2	171710457	171710457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagcagtatgatgtctcctaCgacaccggggacaaggcaat	11	10	1	1	rs368382588		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:171710457C>T	ENST00000358196.3	+	14	1888	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	446					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATGTCTCCTACGACACCGGGG	0.478																																																	0								C		0,4406		0,0,2203	155	141	146		1338	-11	0	2		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GAD1	NM_000817.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		446/595	171710457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1338C>T	2.37:g.171710457C>T			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.Y446	ENST00000358196.3	37	c.1338	CCDS2239.1	2																																																																																			GAD1	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.478	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	C			171710457	1	no_errors	ENST00000358196	ensembl	human	known	70_37	silent	SNP	0.007	T	T	171710457	C	T	171710457	2	4	74	1	0	0	0	0	0	0	0	1	6197	547	19	2		2	GAD1	2	171710457	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4654082	171710457	71488916	187	10882										
MAP1D	254042	genome.wustl.edu	37	chr2	172945101	172945101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgatcacgtcgaggggcgcGcagatcctgaccaaactacc	11	14	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:172945101G>A	ENST00000315796.4	+	10	1362	c.975G>A	c.(973-975)gcG>gcA	p.A325A	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	325					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CGAGGGGCGCGCAGATCCTGA	0.597																																																	0													87	91	89					2																	172945101		2203	4300	6503	SO:0001819	synonymous_variant	254042			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"methionine aminopeptidase 1D"	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.975G>A	2.37:g.172945101G>A			Q1WNX3	Silent	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.A325	ENST00000315796.4	37	c.975	CCDS2246.1	2																																																																																			METAP1D	-	superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1		0.597	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	G	NM_199227		172945101	1	no_errors	ENST00000315796	ensembl	human	known	70_37	silent	SNP	0.339	A	A	172945101	G	A	172945101	2	1	74	1	0	0	0	0	0	0	0	1	9252	1074	38	2		2	MAP1D	2	172945101	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1234644	172945101	70254272	188	10883										
TTC30A	92104	genome.wustl.edu	37	chr2	178482897	178482897	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgaggcctgcagtgtggcaGaaaacttggagcatgcagct	14	10	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:178482897G>C	ENST00000355689.5	-	1	797	c.533C>G	c.(532-534)tCt>tGt	p.S178C	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	178					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CAGTGTGGCAGAAAACTTGGA	0.537																																																	0													103	106	105					2																	178482897		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.533C>G	2.37:g.178482897G>C	ENSP00000347915:p.Ser178Cys		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.S178C	ENST00000355689.5	37	c.533	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	G	4.606	0.112683	0.08831	.	.	ENSG00000197557	ENST00000355689	T	0.61040	0.14	5.51	-1.75	0.08031	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.975741	0.08424	N	0.947950	T	0.52597	0.1744	L	0.34521	1.04	0.09310	N	1	B	0.29301	0.241	B	0.43478	0.421	T	0.57780	-0.7752	10	0.37606	T	0.19	.	8.6122	0.33808	0.2684:0.1186:0.613:0.0	.	178	Q86WT1	TT30A_HUMAN	C	178	ENSP00000347915:S178C	ENSP00000347915:S178C	S	-	2	0	TTC30A	178191143	0.004000	0.15560	0.390000	0.26220	0.261000	0.26267	0.114000	0.15520	-0.142000	0.11354	-0.371000	0.07208	TCT	TTC30A	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.537	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	G	NM_152275		178482897	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.030	C	C	178482897	G	C	178482897	3	2	74	1	0	0	0	0	1	0	0	0	16729	942	33	1	1468	1	TTC30A	2	178482897	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5537796	178482897	64716476	189	10884										
TTN	7273	genome.wustl.edu	37	chr2	179460337	179460337	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagtaggcttttccttgaatGagaccctggacagtagcatt	10	8	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179460337G>A	ENST00000591111.1	-	245	53045	c.52821C>T	c.(52819-52821)ctC>ctT	p.L17607L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.L10183L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.L19248L|TTN_ENST00000342175.6_Silent_p.L10375L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.L10308L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L16680L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17607	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTGAATGAGACCCTGGA	0.443																																																	0													57	53	54					2																	179460337		1871	4120	5991	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52821C>T	2.37:g.179460337G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L16680	ENST00000591111.1	37	c.50040		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179460337	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.996	A	A	179460337	G	A	179460337	2	1	74	1	0	0	0	0	0	0	0	1	16766	1277	45	1		1	TTN	2	179460337	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	977440	179460337	63739036	190	10885										
TTN	7273	genome.wustl.edu	37	chr2	179471944	179471944	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaatgataaagcctgttatTtcacttcctccatcatcttc	3	12	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179471944T>G	ENST00000591111.1	-	228	48686	c.48462A>C	c.(48460-48462)gaA>gaC	p.E16154D	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8730D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17795D|TTN_ENST00000342175.6_Missense_Mutation_p.E8922D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8855D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15227D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16154	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTGTTATTTCACTTCCTC	0.398																																																	0													179	168	171					2																	179471944		1872	4115	5987	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48462A>C	2.37:g.179471944T>G	ENSP00000465570:p.Glu16154Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E15227D	ENST00000591111.1	37	c.45681		2	.	.	.	.	.	.	.	.	.	.	T	9.111	1.006564	0.19199	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.99	-5.22	0.02806	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24353	0.0590	N	0.05554	-0.025	0.19575	N	0.999966	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.14337	-1.0476	9	0.87932	D	0	.	2.2015	0.03924	0.3394:0.1067:0.3486:0.2053	.	8730;8855;8922;16154	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15227;8730;8922;8855;8730	ENSP00000343764:E15227D;ENSP00000434586:E8730D;ENSP00000340554:E8922D;ENSP00000352154:E8855D	ENSP00000340554:E8922D	E	-	3	2	TTN	179180189	0.172000	0.23043	0.849000	0.33467	0.978000	0.69477	-0.408000	0.07169	-1.185000	0.02716	-0.313000	0.08912	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179471944	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.149	G	G	179471944	T	G	179471944	3	3	74	1	0	0	0	0	1	0	0	0	16766	1838	64	5	54648	5	TTN	2	179471944	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	11607	179471944	63727429	191	10886										
TTN	7273	genome.wustl.edu	37	chr2	179666938	179666938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcagggaatatcgtccactGttggctttagtcacggcggg	13	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179666938G>C	ENST00000591111.1	-	3	446	c.222C>G	c.(220-222)aaC>aaG	p.N74K	TTN_ENST00000360870.5_Missense_Mutation_p.N74K|TTN_ENST00000460472.2_Missense_Mutation_p.N74K|TTN_ENST00000589042.1_Missense_Mutation_p.N74K|TTN_ENST00000342175.6_Missense_Mutation_p.N74K|TTN_ENST00000359218.5_Missense_Mutation_p.N74K|TTN_ENST00000342992.6_Missense_Mutation_p.N74K			Q8WZ42	TITIN_HUMAN	titin	32686	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGTCCACTGTTGGCTTTAG	0.562																																																	0													163	146	152					2																	179666938		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.222C>G	2.37:g.179666938G>C	ENSP00000465570:p.Asn74Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N74K	ENST00000591111.1	37	c.222		2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594211	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.74	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69895	0.3162	L	0.28556	0.865	0.35983	D	0.836137	D;P;P;P;D	0.71674	0.963;0.934;0.934;0.934;0.998	P;P;P;P;P	0.59357	0.615;0.579;0.579;0.579;0.856	T	0.78909	-0.2018	9	0.87932	D	0	.	14.9718	0.71241	0.0685:0.0:0.9315:0.0	.	74;74;74;74;74	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	74	ENSP00000343764:N74K;ENSP00000434586:N74K;ENSP00000340554:N74K;ENSP00000352154:N74K;ENSP00000354117:N74K	ENSP00000340554:N74K	N	-	3	2	TTN	179375183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.650000	0.67944	1.433000	0.47394	-0.137000	0.14449	AAC	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.562	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179666938	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	C	C	179666938	G	C	179666938	3	2	74	1	0	0	0	0	1	0	0	0	16766	1368	48	4	111206	4	TTN	2	179666938	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	194994	179666938	63532435	192	10887										
NEUROD1	4760	genome.wustl.edu	37	chr2	182542884	182542884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgtggaagacatgggagctgTccatggtaccgtaaggcgga	16	8	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:182542884T>C	ENST00000295108.3	-	2	1161	c.704A>G	c.(703-705)gAc>gGc	p.D235G	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	235					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATGGGAGCTGTCCATGGTACC	0.637											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													62	68	66					2																	182542884		2203	4300	6503	SO:0001583	missense	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.704A>G	2.37:g.182542884T>C	ENSP00000295108:p.Asp235Gly	1977	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.D235G	ENST00000295108.3	37	c.704	CCDS2283.1	2	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344201	0.41498	.	.	ENSG00000162992	ENST00000295108	T	0.63744	-0.06	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.095401	0.64402	D	0.000001	T	0.64182	0.2575	L	0.51422	1.61	0.80722	D	1	P	0.36086	0.536	P	0.44422	0.449	T	0.60255	-0.7299	10	0.25751	T	0.34	-25.8599	15.3734	0.74584	0.0:0.0:0.0:1.0	.	235	Q13562	NDF1_HUMAN	G	235	ENSP00000295108:D235G	ENSP00000295108:D235G	D	-	2	0	NEUROD1	182251129	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.885000	0.48570	2.299000	0.77371	0.528000	0.53228	GAC	NEUROD1	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD		0.637	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	T	NM_002500		182542884	-1	no_errors	ENST00000295108	ensembl	human	known	70_37	missense	SNP	1.000	C	C	182542884	T	C	182542884	3	2	74	1	0	0	0	0	1	0	0	0	10372	1667	58	5	370	5	NEUROD1	2	182542884	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	2875946	182542884	60656489	193	10888										
FSIP2	401024	genome.wustl.edu	37	chr2	186609076	186609076	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtaccttgagagaattgaatAagtacaggcaatatcttacc	8	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:186609076A>C	ENST00000424728.1	+	4	415	c.415A>C	c.(415-417)Aag>Cag	p.K139Q	FSIP2_ENST00000343098.5_Missense_Mutation_p.K228Q|FSIP2_ENST00000546113.1_5'Flank			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	139										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAATTGAATAAGTACAGGCA	0.224																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.415A>C	2.37:g.186609076A>C	ENSP00000401306:p.Lys139Gln		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.K228Q	ENST00000424728.1	37	c.682		2	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606453	0.46527	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.44482	0.92;0.92	5.4	4.24	0.50183	.	.	.	.	.	T	0.34600	0.0903	L	0.28274	0.84	0.25557	N	0.98702	.	.	.	.	.	.	T	0.23833	-1.0177	7	0.56958	D	0.05	.	8.2021	0.31430	0.9085:0.0:0.0915:0.0	.	.	.	.	Q	228;139;139	ENSP00000344403:K228Q;ENSP00000401306:K139Q	ENSP00000321903:K139Q	K	+	1	0	FSIP2	186317321	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.677000	0.46892	0.892000	0.36259	-0.589000	0.04120	AAG	FSIP2	-	NULL		0.224	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	A	NM_173651		186609076	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	1.000	C	C	186609076	A	C	186609076	3	2	74	1	0	0	0	0	1	0	0	0	6093	363	13	5	696	5	FSIP2	2	186609076	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	4066192	186609076	56590297	194	10889										
FSIP2	401024	genome.wustl.edu	37	chr2	186667087	186667087	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atttcaataaagctaaaattCacattctctatgatgacaaa	3	7	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:186667087C>G	ENST00000424728.1	+	17	13054	c.13054C>G	c.(13054-13056)Cac>Gac	p.H4352D	FSIP2_ENST00000343098.5_Missense_Mutation_p.H4441D|AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4352										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCTAAAATTCACATTCTCTA	0.328																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.13054C>G	2.37:g.186667087C>G	ENSP00000401306:p.His4352Asp		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.H4441D	ENST00000424728.1	37	c.13321		2	.	.	.	.	.	.	.	.	.	.	C	2.735	-0.263452	0.05754	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.93	5.32	2.27	0.28462	.	.	.	.	.	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.20009	-1.0288	7	0.30078	T	0.28	.	5.5306	0.16983	0.0:0.6367:0.1699:0.1934	.	.	.	.	D	4441;4352	ENSP00000344403:H4441D;ENSP00000401306:H4352D	ENSP00000344403:H4441D	H	+	1	0	FSIP2	186375332	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.013000	0.13310	0.271000	0.22005	0.557000	0.71058	CAC	FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186667087	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.002	G	G	186667087	C	G	186667087	3	3	74	1	0	0	0	0	1	0	0	0	6093	826	29	1	13387	1	FSIP2	2	186667087	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	58011	186667087	56532286	195	10890										
GULP1	51454	genome.wustl.edu	37	chr2	189458715	189458715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaggcacagtattttgtctcGacccgttagacagtaggtgc	11	9	1	1	rs369009419		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:189458715G>A	ENST00000409580.1	+	13	1606	c.892G>A	c.(892-894)Gac>Aac	p.D298N	GULP1_ENST00000409609.1_Missense_Mutation_p.D298N|GULP1_ENST00000409830.1_Missense_Mutation_p.D298N|GULP1_ENST00000409805.1_Missense_Mutation_p.D195N|GULP1_ENST00000409843.1_3'UTR|GULP1_ENST00000359135.3_Missense_Mutation_p.D298N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	298					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ATTTTGTCTCGACCCGTTAGA	0.318													G|||	1	0.000199681	0	0	5008	,	,		14806	0.001		0	False		,,,				2504	0				Pancreas(178;563 2065 20199 42378 52815)												0													103	106	105					2																	189458715		2203	4300	6503	SO:0001583	missense	51454			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.892G>A	2.37:g.189458715G>A	ENSP00000386289:p.Asp298Asn		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.D298N	ENST00000409580.1	37	c.892	CCDS2295.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.387731	0.95988	.	.	ENSG00000144366	ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.68	5.68	0.88126	.	0.058418	0.64402	D	0.000002	T	0.69333	0.3099	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.75020	0.966;0.985	T	0.71513	-0.4570	10	0.87932	D	0	-6.3357	18.7667	0.91876	0.0:0.0:1.0:0.0	.	195;298	E9PB86;Q9UBP9	.;GULP1_HUMAN	N	298;195;298;298;298	ENSP00000386732:D298N;ENSP00000352047:D298N;ENSP00000386289:D298N;ENSP00000386867:D298N	ENSP00000352047:D298N	D	+	1	0	GULP1	189166960	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	GAC	GULP1	-	NULL		0.318	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	HGNC	protein_coding	OTTHUMT00000335722.1	G	NM_016315		189458715	1	no_errors	ENST00000359135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189458715	G	A	189458715	3	1	74	1	0	0	0	0	1	0	0	0	6921	1058	37	1	930	1	GULP1	2	189458715	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2791628	189458715	53740658	196	10891										
SLC40A1	30061	genome.wustl.edu	37	chr2	190430189	190430189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagagcagaacgtactccacGcacatggataccaagttcca	8	13	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:190430189G>A	ENST00000261024.2	-	6	1077	c.651C>T	c.(649-651)tgC>tgT	p.C217C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	217					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CGTACTCCACGCACATGGATA	0.478																																																	0													91	88	89					2																	190430189		2203	4300	6503	SO:0001819	synonymous_variant	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.651C>T	2.37:g.190430189G>A			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.C217	ENST00000261024.2	37	c.651	CCDS2299.1	2																																																																																			SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt		0.478	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	G			190430189	-1	no_errors	ENST00000261024	ensembl	human	known	70_37	silent	SNP	0.998	A	A	190430189	G	A	190430189	2	1	74	1	0	0	0	0	0	0	0	1	14658	1079	38	2		2	SLC40A1	2	190430189	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	971474	190430189	52769184	197	10892										
DNAH7	56171	genome.wustl.edu	37	chr2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgctggcgatctaactgacGcatcttatcacatatctctt	6	13	4	1	rs537891498		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2438C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAACTGACGCATCTTATCA	0.433													G|||	1	0.000199681	0	0	5008	,	,		19822	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)											151	146	148					2																	196729067		1960	4161	6121	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7312C>T	2.37:g.196729067G>A	ENSP00000311273:p.Arg2438Cys		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.R2438C	ENST00000312428.6	37	c.7312	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534714	0.85812	.	.	ENSG00000118997	ENST00000312428	T	0.57595	0.39	5.34	5.34	0.76211	Dynein heavy chain, P-loop containing D4 domain (1);	0.056667	0.64402	D	0.000001	T	0.81503	0.4836	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86502	0.1804	10	0.72032	D	0.01	.	18.8307	0.92137	0.0:0.0:1.0:0.0	.	2438	Q8WXX0	DYH7_HUMAN	C	2438	ENSP00000311273:R2438C	ENSP00000311273:R2438C	R	-	1	0	DNAH7	196437312	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	9.336000	0.96533	2.785000	0.95823	0.650000	0.86243	CGT	DNAH7	-	NULL		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196729067	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196729067	G	A	196729067	3	1	74	1	0	0	0	0	1	0	0	0	4616	1087	38	2	4862	2	DNAH7	2	196729067	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6298878	196729067	46470306	198	10893										
DNAH7	56171	genome.wustl.edu	37	chr2	196738404	196738404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catgtatcgaggagttactgGatttcgaccaccacctaaat	8	10	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:196738404G>A	ENST00000312428.6	-	39	6401	c.6301C>T	c.(6301-6303)Cca>Tca	p.P2101S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2101	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGTTACTGGATTTCGACCA	0.279																																																	0													66	64	65					2																	196738404		1813	4070	5883	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6301C>T	2.37:g.196738404G>A	ENSP00000311273:p.Pro2101Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.P2101S	ENST00000312428.6	37	c.6301	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351381	0.24512	.	.	ENSG00000118997	ENST00000312428	T	0.33654	1.4	4.81	4.81	0.61882	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.54908	1.71	0.80722	D	1	P	0.44281	0.831	P	0.53722	0.733	T	0.18999	-1.0319	10	0.07482	T	0.82	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	2101	Q8WXX0	DYH7_HUMAN	S	2101	ENSP00000311273:P2101S	ENSP00000311273:P2101S	P	-	1	0	DNAH7	196446649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.256000	0.58810	2.646000	0.89796	0.585000	0.79938	CCA	DNAH7	-	smart_AAA+_ATPase		0.279	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196738404	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196738404	G	A	196738404	3	1	74	1	0	0	0	0	1	0	0	0	4616	1174	41	1	5881	1	DNAH7	2	196738404	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	9337	196738404	46460969	199	10894										
PGAP1	80055	genome.wustl.edu	37	chr2	197737724	197737724	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcataagaccaaggaatatGaagtctatagatactggtta	8	5	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:197737724G>A	ENST00000354764.4	-	17	1693	c.1579C>T	c.(1579-1581)Cat>Tat	p.H527Y	PGAP1_ENST00000409475.1_Missense_Mutation_p.H527Y	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	527					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAAGGAATATGAAGTCTATAG	0.254																																																	0													43	48	46					2																	197737724		2158	4212	6370	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1579C>T	2.37:g.197737724G>A	ENSP00000346809:p.His527Tyr		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.H527Y	ENST00000354764.4	37	c.1579	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941319	0.53079	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	4.75	3.85	0.44370	.	0.452625	0.25027	N	0.033708	T	0.44603	0.1301	L	0.29908	0.895	0.80722	D	1	D;P	0.54964	0.969;0.818	P;B	0.51016	0.656;0.255	T	0.39461	-0.9613	9	0.02654	T	1	-17.5666	13.2578	0.60089	0.0:0.1595:0.8405:0.0	.	527;527	Q75T13-3;Q75T13	.;PGAP1_HUMAN	Y	307;527;527	.	ENSP00000346809:H527Y	H	-	1	0	PGAP1	197445969	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	5.881000	0.69706	1.329000	0.45376	0.585000	0.79938	CAT	PGAP1	-	NULL		0.254	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197737724	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	1.000	A	A	197737724	G	A	197737724	3	1	74	1	0	0	0	0	1	0	0	0	11801	1290	45	1	1233	1	PGAP1	2	197737724	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	999320	197737724	45461649	200	10895										
BOLL	66037	genome.wustl.edu	37	chr2	198621238	198621238	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cactggttgataaataacctCagaaggttgcaggtataaga	10	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:198621238C>T	ENST00000392296.4	-	9	952	c.643G>A	c.(643-645)Gag>Aag	p.E215K	AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000433157.1_Missense_Mutation_p.E215K|BOLL_ENST00000282278.8_Missense_Mutation_p.E106K|BOLL_ENST00000430004.1_Missense_Mutation_p.E237K|BOLL_ENST00000321801.7_Missense_Mutation_p.E227K	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	215					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TAAATAACCTCAGAAGGTTGC	0.378																																																	0													78	74	75					2																	198621238		2203	4300	6503	SO:0001583	missense	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.643G>A	2.37:g.198621238C>T	ENSP00000376116:p.Glu215Lys		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.E227K	ENST00000392296.4	37	c.679	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951624	0.73787	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.30981	1.51;1.83;1.83;1.83	5.46	5.46	0.80206	.	0.110421	0.40640	N	0.001055	T	0.34745	0.0908	N	0.24115	0.695	0.39077	D	0.960834	D;P;P;B;P	0.55385	0.971;0.95;0.739;0.255;0.571	P;B;B;B;B	0.53062	0.717;0.375;0.359;0.104;0.21	T	0.24621	-1.0155	10	0.87932	D	0	-11.8326	16.2217	0.82262	0.0:1.0:0.0:0.0	.	106;243;227;215;221	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	K	237;215;227;106;215	ENSP00000397711:E237K;ENSP00000376116:E215K;ENSP00000314792:E227K;ENSP00000396099:E215K	ENSP00000282278:E106K	E	-	1	0	BOLL	198329483	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.725000	0.61979	2.577000	0.86979	0.557000	0.71058	GAG	BOLL	-	NULL		0.378	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	C	NM_033030		198621238	-1	no_errors	ENST00000321801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	198621238	C	T	198621238	3	4	74	1	0	0	0	0	1	0	0	0	1490	835	29	1	220	1	BOLL	2	198621238	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	883514	198621238	44578135	201	10896										
PARD3B	117583	genome.wustl.edu	37	chr2	206265749	206265749	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcactagatttggaaagaaGaaagaggataagggtggaaa	13	2	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:206265749G>T	ENST00000406610.2	+	19	2850	c.2643G>T	c.(2641-2643)aaG>aaT	p.K881N	PARD3B_ENST00000358768.2_Missense_Mutation_p.K819N|PARD3B_ENST00000349953.3_Missense_Mutation_p.K881N|PARD3B_ENST00000351153.1_Missense_Mutation_p.K812N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	881	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGGAAAGAAGAAAGAGGATA	0.413																																																	0													78	76	77					2																	206265749		1871	4114	5985	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2643G>T	2.37:g.206265749G>T	ENSP00000385848:p.Lys881Asn		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K881N	ENST00000406610.2	37	c.2643		2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588167	0.46110	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.45	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.63843	1.955	0.33537	D	0.594404	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.91635	0.991;0.991;0.999;0.994	T	0.58487	-0.7628	10	0.32370	T	0.25	.	8.2219	0.31547	0.1717:0.0:0.8283:0.0	.	881;812;819;881	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	N	881;819;812;881	ENSP00000385848:K881N;ENSP00000351618:K819N;ENSP00000317261:K812N;ENSP00000340280:K881N	ENSP00000340280:K881N	K	+	3	2	PARD3B	205973994	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	1.391000	0.34475	2.705000	0.92388	0.655000	0.94253	AAG	PARD3B	-	NULL		0.413	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206265749	1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	1.000	T	T	206265749	G	T	206265749	3	4	74	1	0	0	0	0	1	0	0	0	11468	933	33	3	2717	3	PARD3B	2	206265749	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7644511	206265749	36933624	202	10897										
BCS1L	617	genome.wustl.edu	37	chr2	219526252	219526252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actgaccgaaaggttttcttCaacatcctggaggaaggtgt	11	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:219526252C>G	ENST00000431802.1	+	3	1143	c.444C>G	c.(442-444)ttC>ttG	p.F148L	BCS1L_ENST00000359273.3_Missense_Mutation_p.F148L|BCS1L_ENST00000439945.1_Missense_Mutation_p.F148L|BCS1L_ENST00000412366.1_Missense_Mutation_p.F148L|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.F148L|BCS1L_ENST00000392110.2_Missense_Mutation_p.F148L|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.F148L			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	148					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTTTTCTTCAACATCCTGG	0.522																																																	0													63	67	66					2																	219526252		2203	4300	6503	SO:0001583	missense	617			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.444C>G	2.37:g.219526252C>G	ENSP00000413908:p.Phe148Leu		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.F148L	ENST00000431802.1	37	c.444	CCDS2419.1	2	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056340	0.36277	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89	5.33	4.38	0.52667	BCS1, N-terminal (1);	0.046461	0.85682	D	0.000000	D	0.95153	0.8429	M	0.81802	2.56	0.58432	D	0.999999	B	0.17268	0.021	B	0.29524	0.103	D	0.92853	0.6299	10	0.39692	T	0.17	-19.3426	14.589	0.68351	0.0:0.9198:0.0:0.0802	.	148	Q9Y276	BCS1_HUMAN	L	148;148;28;148;148;148;148;148;148;148	ENSP00000398957:F148L;ENSP00000395440:F148L;ENSP00000412729:F28L;ENSP00000352219:F148L;ENSP00000375957:F148L;ENSP00000375958:F148L;ENSP00000375959:F148L;ENSP00000406494:F148L;ENSP00000404999:F148L;ENSP00000413908:F148L	ENSP00000352219:F148L	F	+	3	2	BCS1L	219234496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.771000	0.47670	2.774000	0.95407	0.650000	0.86243	TTC	BCS1L	-	pfam_BCS1_N		0.522	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	C	NM_004328		219526252	1	no_errors	ENST00000359273	ensembl	human	known	70_37	missense	SNP	1.000	G	G	219526252	C	G	219526252	3	3	74	1	0	0	0	0	1	0	0	0	1390	825	29	1	450	1	BCS1L	2	219526252	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	13260503	219526252	23673121	203	10898										
STK11IP	114790	genome.wustl.edu	37	chr2	220479926	220479926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcctccagcagcatctggcGaagcctctgagaaggtgcct	11	14	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:220479926G>A	ENST00000456909.1	+	24	3070	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E1005K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1005					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCATCTGGCGAAGCCTCTGA	0.652																																																	0													14	17	16					2																	220479926		2162	4279	6441	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2980G>A	2.37:g.220479926G>A	ENSP00000389383:p.Glu994Lys		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E994K	ENST00000456909.1	37	c.2980		2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104095	0.56291	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.06933	3.24;3.24	4.63	4.63	0.57726	.	0.193171	0.33253	N	0.005111	T	0.24431	0.0592	M	0.63428	1.95	0.30288	N	0.790662	D	0.76494	0.999	D	0.78314	0.991	T	0.01566	-1.1323	10	0.56958	D	0.05	-8.9574	12.8775	0.57998	0.0:0.0:1.0:0.0	.	1005	Q8N1F8	S11IP_HUMAN	K	994;1005	ENSP00000389383:E994K;ENSP00000295641:E1005K	ENSP00000295641:E1005K	E	+	1	0	STK11IP	220188170	0.241000	0.23857	0.932000	0.37286	0.012000	0.07955	2.622000	0.46427	2.410000	0.81850	0.561000	0.74099	GAA	STK11IP	-	NULL		0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220479926	1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.872	A	A	220479926	G	A	220479926	3	1	74	1	0	0	0	0	1	0	0	0	15318	1059	37	1	3107	1	STK11IP	2	220479926	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	953674	220479926	22719447	204	10899										
AGFG1	3267	genome.wustl.edu	37	chr2	228398274	228398274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctgttacaggtggaagtgCtgcatcagtaaatgctaatt	10	6	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:228398274C>A	ENST00000310078.8	+	7	1084	c.824C>A	c.(823-825)gCt>gAt	p.A275D	AGFG1_ENST00000409979.2_Missense_Mutation_p.A299D|AGFG1_ENST00000373671.3_Missense_Mutation_p.A235D|AGFG1_ENST00000409315.1_Missense_Mutation_p.A275D|AGFG1_ENST00000409171.1_Missense_Mutation_p.A275D	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	275					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGTGGAAGTGCTGCATCAGTA	0.373																																																	0													82	78	79					2																	228398274		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.824C>A	2.37:g.228398274C>A	ENSP00000312059:p.Ala275Asp		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.A299D	ENST00000310078.8	37	c.896	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658115	0.47467	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.30448	1.53;1.75;1.88;1.84;1.75	5.14	3.04	0.35103	.	0.279103	0.32852	N	0.005579	T	0.17450	0.0419	N	0.22421	0.69	0.43683	D	0.996123	B;B;B;B	0.27559	0.056;0.018;0.181;0.01	B;B;B;B	0.21360	0.03;0.034;0.03;0.015	T	0.05920	-1.0856	10	0.21540	T	0.41	.	10.5796	0.45248	0.0:0.7781:0.1384:0.0835	.	235;275;299;275	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	D	299;284;275;275;235;275;197	ENSP00000387282:A299D;ENSP00000312059:A275D;ENSP00000387154:A275D;ENSP00000362775:A235D;ENSP00000387218:A275D	ENSP00000312059:A275D	A	+	2	0	AGFG1	228106518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.699000	0.54778	2.395000	0.81488	0.655000	0.94253	GCT	AGFG1	-	NULL		0.373	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	HGNC	protein_coding	OTTHUMT00000256895.2	C	NM_004504		228398274	1	no_errors	ENST00000409979	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228398274	C	A	228398274	3	1	74	1	0	0	0	0	1	0	0	0	380	797	28	4	926	4	AGFG1	2	228398274	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7918348	228398274	14801099	205	10900										
SPHKAP	80309	genome.wustl.edu	37	chr2	228855752	228855752	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcctgagatttcttaaagtaGatggtgggaatccccagttc	10	8	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:228855752G>C	ENST00000392056.3	-	11	4969	c.4923C>G	c.(4921-4923)atC>atG	p.I1641M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I1612M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1641						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTTAAAGTAGATGGTGGGAA	0.463																																																	0													82	81	81					2																	228855752		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4923C>G	2.37:g.228855752G>C	ENSP00000375909:p.Ile1641Met		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.I1641M	ENST00000392056.3	37	c.4923	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591155	0.66219	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06849	3.25;3.25	6.17	5.3	0.74995	A-kinase anchor 110kDa, C-terminal (1);	0.215793	0.49305	D	0.000145	T	0.22781	0.0550	L	0.48362	1.52	0.41851	D	0.990171	D;D	0.76494	0.999;0.999	D;D	0.76575	0.977;0.988	T	0.00675	-1.1615	10	0.72032	D	0.01	.	14.5336	0.67944	0.0692:0.0:0.9308:0.0	.	1641;1612	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	1641;1612	ENSP00000375909:I1641M;ENSP00000339886:I1612M	ENSP00000339886:I1612M	I	-	3	3	SPHKAP	228563996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.254000	0.58798	1.633000	0.50488	0.655000	0.94253	ATC	SPHKAP	-	pfam_AKAP_110_C		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228855752	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	1.000	C	C	228855752	G	C	228855752	3	2	74	1	0	0	0	0	1	0	0	0	15078	932	33	1	187	1	SPHKAP	2	228855752	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	457478	228855752	14343621	206	10901										
SPHKAP	80309	genome.wustl.edu	37	chr2	228881750	228881750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgcgctactgaccggctgcaCgcttaggaaatcttgtgggc	13	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:228881750C>T	ENST00000392056.3	-	7	3866	c.3820G>A	c.(3820-3822)Gtg>Atg	p.V1274M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1274M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1274						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCGGCTGCACGCTTAGGAAA	0.512																																																	0													75	73	74					2																	228881750		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3820G>A	2.37:g.228881750C>T	ENSP00000375909:p.Val1274Met		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.V1274M	ENST00000392056.3	37	c.3820	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494540	0.26774	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.44881	0.91;0.91	6.08	6.08	0.98989	.	0.231545	0.44688	D	0.000435	T	0.60508	0.2274	M	0.64997	1.995	0.35040	D	0.75961	D;D;D	0.76494	0.992;0.999;0.999	P;P;D	0.64595	0.79;0.84;0.927	T	0.69964	-0.5002	10	0.87932	D	0	.	15.166	0.72825	0.0:0.8596:0.1404:0.0	.	305;1274;1274	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1274	ENSP00000375909:V1274M;ENSP00000339886:V1274M	ENSP00000339886:V1274M	V	-	1	0	SPHKAP	228589994	0.923000	0.31300	0.077000	0.20336	0.022000	0.10575	1.673000	0.37534	2.894000	0.99253	0.655000	0.94253	GTG	SPHKAP	-	NULL		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228881750	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.690	T	T	228881750	C	T	228881750	3	4	74	1	0	0	0	0	1	0	0	0	15078	536	19	2	1306	2	SPHKAP	2	228881750	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	25998	228881750	14317623	207	10902										
TRIP12	9320	genome.wustl.edu	37	chr2	230672494	230672494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catcacgccactgccatatcGcaccatctgtgttctgtgca	7	15	3	0	rs373429636		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:230672494G>A	ENST00000283943.5	-	16	2460	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V	TRIP12_ENST00000389044.4_Missense_Mutation_p.A809V|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.A464V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	761	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGCCATATCGCACCATCTGT	0.433																																																	0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	169	135	147		2282	5.2	1	2		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	761/1993	230672494	2,13004	2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2282C>T	2.37:g.230672494G>A	ENSP00000283943:p.Ala761Val		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.A761V	ENST00000283943.5	37	c.2282	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870042	0.51588	2.27E-4	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.38560	1.75;1.13;1.75	5.23	5.23	0.72850	WWE domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.17474	0.49	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;P;P	0.64877	0.93;0.929;0.868;0.768	T	0.21075	-1.0256	10	0.10111	T	0.7	.	19.1761	0.93603	0.0:0.0:1.0:0.0	.	767;464;809;761	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	V	761;464;809	ENSP00000283943:A761V;ENSP00000373697:A464V;ENSP00000373696:A809V	ENSP00000283943:A761V	A	-	2	0	TRIP12	230380738	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	9.650000	0.98490	2.602000	0.87976	0.467000	0.42956	GCG	TRIP12	-	superfamily_ARM-type_fold,pfscan_WWE-dom		0.433	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	G	NM_004238		230672494	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	missense	SNP	1.000	A	A	230672494	G	A	230672494	3	1	74	1	0	0	0	0	1	0	0	0	16587	1087	38	2	3800	2	TRIP12	2	230672494	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1790744	230672494	12526879	208	10903										
ARMC9	80210	genome.wustl.edu	37	chr2	232079546	232079546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgatgtcttctccacagaaGgatcttgtcgctgcatttga	9	10	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:232079546G>A	ENST00000349938.4	+	4	374	c.180G>A	c.(178-180)aaG>aaA	p.K60K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	60						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTCCACAGAAGGATCTTGTCG	0.468																																																	0													116	104	108					2																	232079546		2203	4300	6503	SO:0001819	synonymous_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.180G>A	2.37:g.232079546G>A			Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.K60	ENST00000349938.4	37	c.180	CCDS2484.1	2																																																																																			ARMC9	-	NULL		0.468	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	G	NM_025139		232079546	1	no_errors	ENST00000349938	ensembl	human	known	70_37	silent	SNP	1.000	A	A	232079546	G	A	232079546	2	1	74	1	0	0	0	0	0	0	0	1	959	991	35	4		4	ARMC9	2	232079546	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1407052	232079546	11119827	209	10904										
ALPI	248	genome.wustl.edu	37	chr2	233321089	233321089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaacccggccttctggaaccGccaggcagctgaggccctgg	14	15	1	1	rs61732026	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:233321089G>A	ENST00000295463.3	+	2	175	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	33					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTCTGGAACCGCCAGGCAGCT	0.627																																																	0													64	67	66					2																	233321089		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.98G>A	2.37:g.233321089G>A	ENSP00000295463:p.Arg33His		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.R33H	ENST00000295463.3	37	c.98	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	g	11.63	1.696440	0.30142	.	.	ENSG00000163295	ENST00000295463	T	0.37915	1.17	5.49	-6.93	0.01638	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.688330	0.02898	N	0.135019	T	0.26122	0.0637	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28170	-1.0052	10	0.49607	T	0.09	.	6.1124	0.20108	0.4645:0.0:0.3441:0.1914	.	33	P09923	PPBI_HUMAN	H	33	ENSP00000295463:R33H	ENSP00000295463:R33H	R	+	2	0	ALPI	233029333	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.219000	0.02973	-1.103000	0.03019	-0.894000	0.02916	CGC	ALPI	-	superfamily_Alkaline_phosphatase_core		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	G	NM_001631		233321089	1	no_errors	ENST00000295463	ensembl	human	known	70_37	missense	SNP	0.000	A	A	233321089	G	A	233321089	3	1	74	1	0	0	0	0	1	0	0	0	543	1087	38	2	104	2	ALPI	2	233321089	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1241543	233321089	9878284	210	10905										
ALPI	248	genome.wustl.edu	37	chr2	233321923	233321923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcgccagccggcacctacgCacacacagtgaaccgcaact	8	18	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:233321923C>A	ENST00000295463.3	+	5	616	c.539C>A	c.(538-540)gCa>gAa	p.A180E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	180					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCACCTACGCACACACAGTG	0.612																																																	0													78	78	78					2																	233321923		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.539C>A	2.37:g.233321923C>A	ENSP00000295463:p.Ala180Glu		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.A180E	ENST00000295463.3	37	c.539	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943232	0.53079	.	.	ENSG00000163295	ENST00000295463	D	0.98474	-4.95	5.5	4.61	0.57282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.057670	0.64402	D	0.000002	D	0.99459	0.9808	H	0.99752	4.75	0.45837	D	0.998703	D	0.89917	1.0	D	0.97110	1.0	D	0.97807	1.0248	10	0.87932	D	0	.	12.8413	0.57805	0.0:0.9201:0.0:0.0799	.	180	P09923	PPBI_HUMAN	E	180	ENSP00000295463:A180E	ENSP00000295463:A180E	A	+	2	0	ALPI	233030167	0.936000	0.31750	0.026000	0.17262	0.017000	0.09413	2.929000	0.48916	1.440000	0.47531	0.561000	0.74099	GCA	ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.612	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	C	NM_001631		233321923	1	no_errors	ENST00000295463	ensembl	human	known	70_37	missense	SNP	0.971	A	A	233321923	C	A	233321923	3	1	74	1	0	0	0	0	1	0	0	0	543	710	25	4	557	4	ALPI	2	233321923	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	834	233321923	9877450	211	10906										
TRPM8	79054	genome.wustl.edu	37	chr2	234835193	234835193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacagaaaagatgtcctttcGggcagccaggctcagcatga	11	11	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:234835193G>A	ENST00000324695.4	+	2	51	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	4					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGTCCTTTCGGGCAGCCAGG	0.527																																																	0													124	115	118					2																	234835193		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.11G>A	2.37:g.234835193G>A	ENSP00000323926:p.Arg4Gln		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R4Q	ENST00000324695.4	37	c.11	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	2.328	-0.354133	0.05173	.	.	ENSG00000144481	ENST00000324695	T	0.58797	0.31	4.6	1.93	0.25924	.	1.343220	0.04737	N	0.422239	T	0.34221	0.0890	N	0.08118	0	0.21984	N	0.999432	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	10	0.17369	T	0.5	-11.798	4.6758	0.12712	0.6574:0.0:0.3426:0.0	.	4	Q7Z2W7	TRPM8_HUMAN	Q	4	ENSP00000323926:R4Q	ENSP00000323926:R4Q	R	+	2	0	TRPM8	234499932	0.929000	0.31497	0.286000	0.24833	0.012000	0.07955	1.326000	0.33735	0.738000	0.32606	-0.367000	0.07326	CGG	TRPM8	-	NULL		0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234835193	1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	0.268	A	A	234835193	G	A	234835193	3	1	74	1	0	0	0	0	1	0	0	0	16623	1116	39	2	13	2	TRPM8	2	234835193	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1513270	234835193	8364180	212	10907										
TRPM8	79054	genome.wustl.edu	37	chr2	234891780	234891780	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggcaagggatccttaggcaGaatgagcagcgctggaggtg	17	7	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:234891780G>C	ENST00000324695.4	+	20	2713	c.2673G>C	c.(2671-2673)caG>caC	p.Q891H	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q469H	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	891					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTTAGGCAGAATGAGCAGC	0.577																																																	0													206	179	188					2																	234891780		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2673G>C	2.37:g.234891780G>C	ENSP00000323926:p.Gln891His		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.Q891H	ENST00000324695.4	37	c.2673	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321308	0.41096	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.68765	-0.35;-0.35;-0.35	5.8	-5.93	0.02254	Ion transport (1);	0.196815	0.36101	N	0.002789	T	0.34308	0.0893	N	0.08118	0	0.23515	N	0.997517	B;B	0.14438	0.01;0.001	B;B	0.20577	0.03;0.002	T	0.08889	-1.0700	10	0.35671	T	0.21	-19.5708	4.7738	0.13169	0.545:0.0937:0.2667:0.0946	.	469;891	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	H	891;469;152	ENSP00000323926:Q891H;ENSP00000404423:Q469H;ENSP00000414198:Q152H	ENSP00000323926:Q891H	Q	+	3	2	TRPM8	234556519	0.900000	0.30661	0.257000	0.24404	0.985000	0.73830	0.035000	0.13797	-1.230000	0.02561	-0.312000	0.09012	CAG	TRPM8	-	pfam_Ion_trans_dom		0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234891780	1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	0.958	C	C	234891780	G	C	234891780	3	2	74	1	0	0	0	0	1	0	0	0	16623	933	33	1	2747	1	TRPM8	2	234891780	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	56587	234891780	8307593	213	10908										
GBX2	2637	genome.wustl.edu	37	chr2	237074607	237074607	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgacttctgatagcgaaccTgctgacgtggacagggatgg	14	9	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:237074607T>G	ENST00000306318.4	-	2	1394	c.997A>C	c.(997-999)Agg>Cgg	p.R333R	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	333					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		ATAGCGAACCTGCTGACGTGG	0.632																																																	0													104	97	100					2																	237074607		2203	4300	6503	SO:0001819	synonymous_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.997A>C	2.37:g.237074607T>G			B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R333	ENST00000306318.4	37	c.997	CCDS2515.1	2																																																																																			GBX2	-	NULL		0.632	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	T	NM_001485		237074607	-1	no_errors	ENST00000306318	ensembl	human	known	70_37	silent	SNP	1.000	G	G	237074607	T	G	237074607	2	3	74	1	0	0	0	0	0	0	0	1	6300	1579	55	5		5	GBX2	2	237074607	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	2182827	237074607	6124766	214	10909										
IQCA1	79781	genome.wustl.edu	37	chr2	237300961	237300961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggatcatagtcctgagagaAattccaagactcatcttttt	7	8	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:237300961A>G	ENST00000409907.3	-	10	1517	c.1243T>C	c.(1243-1245)Ttc>Ctc	p.F415L	IQCA1_ENST00000309507.5_Missense_Mutation_p.F411L|IQCA1_ENST00000465621.1_5'Flank|IQCA1_ENST00000431676.2_Missense_Mutation_p.F374L|AC019068.2_ENST00000413353.1_RNA	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	415	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCTGAGAGAAATTCCAAGAC	0.328																																																	0													86	75	78					2																	237300961		1834	4079	5913	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1243T>C	2.37:g.237300961A>G	ENSP00000387347:p.Phe415Leu		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.F415L	ENST00000409907.3	37	c.1243	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.64|15.64	2.893326|2.893326	0.52121|0.52121	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.93906|.	-3.24;-3.23;-3.31|.	5.63|5.63	4.47|4.47	0.54385|0.54385	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000009|0.000009	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.53729|0.53729	1.69|1.69	0.41272|0.41272	D|D	0.986852|0.986852	B;B;B|.	0.18968|.	0.026;0.032;0.011|.	B;B;B|.	0.21151|.	0.02;0.033;0.013|.	T|T	0.58470|0.58470	-0.7631|-0.7631	10|6	0.02654|.	T|.	1|.	.|.	11.4661|11.4661	0.50239|0.50239	0.8496:0.1504:0.0:0.0|0.8496:0.1504:0.0:0.0	.|.	374;422;415|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	L|S	415;422;411;374;411|433	ENSP00000387347:F415L;ENSP00000311951:F411L;ENSP00000407213:F374L|.	ENSP00000254653:F415L|.	F|F	-|-	1|2	0|0	IQCA1|IQCA1	236965700|236965700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.339000|3.339000	0.52135|0.52135	0.956000|0.956000	0.37904|0.37904	0.533000|0.533000	0.62120|0.62120	TTC|TTT	IQCA1	-	NULL		0.328	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	A	NM_024726		237300961	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	1.000	G	G	237300961	A	G	237300961	3	3	74	1	0	0	0	0	1	0	0	0	7822	14	1	5	1265	5	IQCA1	2	237300961	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	226354	237300961	5898412	215	10910										
HDAC4	9759	genome.wustl.edu	37	chr2	240002874	240002874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgacgttgaaacccacgccGggccctgtgcccacctgtgg	12	15	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:240002874G>A	ENST00000345617.3	-	22	3443	c.2652C>T	c.(2650-2652)ccC>ccT	p.P884P	HDAC4_ENST00000543185.1_Silent_p.P468P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	884	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AACCCACGCCGGGCCCTGTGC	0.647																																																	0													29	32	31					2																	240002874		2203	4300	6503	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2652C>T	2.37:g.240002874G>A			Q9UND6	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P884	ENST00000345617.3	37	c.2652	CCDS2529.1	2																																																																																			HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.647	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	G	NM_006037		240002874	-1	no_errors	ENST00000345617	ensembl	human	known	70_37	silent	SNP	0.673	A	A	240002874	G	A	240002874	2	1	74	1	0	0	0	0	0	0	0	1	7029	1103	39	2		2	HDAC4	2	240002874	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2701913	240002874	3196499	216	10911										
HDLBP	3069	genome.wustl.edu	37	chr2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aattactgccccctttctccCgataatcttgggatggtatt	7	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.G1069W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTTTCTCCCGATAATCTTG	0.473																																																	1	Substitution - Missense(1)	lung(1)											171	155	161					2																	242173318		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3205G>A	2.37:g.242173318C>T	ENSP00000375836:p.Gly1069Arg		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G1069R	ENST00000391975.1	37	c.3205	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	C	NM_203346		242173318	-1	no_errors	ENST00000310931	ensembl	human	known	70_37	missense	SNP	1.000	T	T	242173318	C	T	242173318	3	4	74	1	0	0	0	0	1	0	0	0	7045	652	23	2	621	2	HDLBP	2	242173318	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2170444	242173318	1026055	217	10912										
FARP2	9855	genome.wustl.edu	37	chr2	242350463	242350463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctagatacttgtttgccttGcaacttaagagagacctgct	8	9	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:242350463G>A	ENST00000264042.3	+	6	596	c.426G>A	c.(424-426)ttG>ttA	p.L142L	FARP2_ENST00000373287.4_Silent_p.L142L|FARP2_ENST00000545004.1_Silent_p.L142L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	142	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGTTTGCCTTGCAACTTAAGA	0.473																																																	0													109	95	99					2																	242350463		2203	4300	6503	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.426G>A	2.37:g.242350463G>A			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L142	ENST00000264042.3	37	c.426	CCDS33424.1	2																																																																																			FARP2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.473	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242350463	1	no_errors	ENST00000264042	ensembl	human	known	70_37	silent	SNP	1.000	A	A	242350463	G	A	242350463	2	1	74	1	0	0	0	0	0	0	0	1	5695	1310	46	4		4	FARP2	2	242350463	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	177145	242350463	848910	218	10913										
CNTN6	27255	genome.wustl.edu	37	chr3	1424984	1424984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctctggatggtagaacctcaActggccccaaggggaacttc	11	12	2	1	rs368055236		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:1424984A>C	ENST00000446702.2	+	19	3036	c.2409A>C	c.(2407-2409)caA>caC	p.Q803H	CNTN6_ENST00000350110.2_Missense_Mutation_p.Q803H|CNTN6_ENST00000539053.1_Missense_Mutation_p.Q731H			Q9UQ52	CNTN6_HUMAN	contactin 6	803					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAACCTCAACTGGCCCCAA	0.433													A|||	1	0.000199681	8e-04	0	5008	,	,		20658	0		0	False		,,,				2504	0																0								A	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	185	192	190		2409	-7.8	0.2	3		190	0,8600		0,0,4300	no	missense	CNTN6	NM_014461.2	24	0,1,6502	CC,CA,AA		0.0,0.0227,0.0077	benign	803/1029	1424984	1,13005	2203	4300	6503	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2409A>C	3.37:g.1424984A>C	ENSP00000407822:p.Gln803His		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q803H	ENST00000446702.2	37	c.2409	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972299	0.53614	2.27E-4	0.0	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.61510	0.1;0.13;0.1	5.82	-7.81	0.01210	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.359193	0.23789	N	0.044554	T	0.54565	0.1866	M	0.75085	2.285	0.28593	N	0.909531	P	0.37955	0.612	B	0.43575	0.424	T	0.57751	-0.7757	10	0.51188	T	0.08	.	12.1574	0.54085	0.1619:0.0847:0.7534:0.0	.	803	Q9UQ52	CNTN6_HUMAN	H	803;731;803	ENSP00000407822:Q803H;ENSP00000442791:Q731H;ENSP00000341882:Q803H	ENSP00000341882:Q803H	Q	+	3	2	CNTN6	1399984	0.000000	0.05858	0.173000	0.22940	0.872000	0.50106	-1.095000	0.03356	-1.479000	0.01867	-0.342000	0.07992	CAA	CNTN6	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	A	NM_014461		1424984	1	no_errors	ENST00000350110	ensembl	human	known	70_37	missense	SNP	0.859	C	C	1424984	A	C	1424984	3	2	74	1	0	0	0	0	1	0	0	0	3650	40	2	5	2479	5	CNTN6	3	1424984	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09		1424984	196597446	219	10914										
CNTN4	152330	genome.wustl.edu	37	chr3	3072659	3072659	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcagacctgattgtaagaGgtactggattttgttgttat	11	5	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:3072659G>T	ENST00000397461.1	+	15	2167	c.1783G>T	c.(1783-1785)Ggt>Tgt	p.G595C	CNTN4_ENST00000358480.3_Splice_Site_p.G376C|CNTN4_ENST00000448906.2_Splice_Site_p.G267C|CNTN4_ENST00000418658.1_Splice_Site_p.G595C|CNTN4_ENST00000397459.2_Splice_Site_p.G267C|CNTN4_ENST00000427331.1_Splice_Site_p.G595C	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	595					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATTGTAAGAGGTACTGGATT	0.408																																																	0													177	167	170					3																	3072659		2203	4300	6503	SO:0001630	splice_region_variant	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1783+1G>T	3.37:g.3072659G>T			B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G595C	ENST00000397461.1	37	c.1783	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293549	0.80914	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	5.13	5.13	0.70059	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.87407	0.2373	10	0.87932	D	0	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	594;595;595	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	C	595;595;595;376;267;267	ENSP00000396010:G595C;ENSP00000380602:G595C;ENSP00000413642:G595C;ENSP00000351267:G376C;ENSP00000380600:G267C;ENSP00000392077:G267C	ENSP00000351267:G376C	G	+	1	0	CNTN4	3047659	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.191000	0.94940	2.546000	0.85860	0.655000	0.94253	GGT	CNTN4	-	NULL		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	G		Missense_Mutation	3072659	1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3072659	G	T	3072659	5	4	74	1	0	0	0	0	0	0	1	0	3648	1014	35	4	1833	4	CNTN4	3	3072659	Splice_Site	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1647675	3072659	194949771	220	10915										
C3orf32	51066	genome.wustl.edu	37	chr3	8672598	8672598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggggaggcgcctctttgcgGcccatccacagagtggtctg	16	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:8672598G>A	ENST00000317371.4	-	13	1577	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	SSUH2_ENST00000544814.1_Missense_Mutation_p.P140S|SSUH2_ENST00000341795.3_Missense_Mutation_p.P118S|SSUH2_ENST00000415132.1_Missense_Mutation_p.P118S			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	118						cytoplasm (GO:0005737)											CCTCTTTGCGGCCCATCCACA	0.527																																																	0													70	67	68					3																	8672598		2203	4300	6503	SO:0001583	missense	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.352C>T	3.37:g.8672598G>A	ENSP00000324551:p.Pro118Ser		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.P140S	ENST00000317371.4	37	c.418	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359768	0.61403	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.47177	0.9;0.9;0.88;0.91;0.85	5.72	5.72	0.89469	.	0.376195	0.31438	N	0.007652	T	0.65883	0.2734	M	0.71206	2.165	0.42224	D	0.991865	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.62900	-0.6756	10	0.32370	T	0.25	-19.4249	15.3754	0.74602	0.0:0.0:1.0:0.0	.	140;118	F5H2S5;Q9Y2M2	.;CC032_HUMAN	S	118;118;118;140;140	ENSP00000339150:P118S;ENSP00000324551:P118S;ENSP00000410757:P118S;ENSP00000439378:P140S;ENSP00000401289:P140S	ENSP00000324551:P118S	P	-	1	0	C3orf32	8647598	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	5.945000	0.70226	2.699000	0.92147	0.591000	0.81541	CCG	SSUH2	-	NULL		0.527	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	G	NM_015931		8672598	-1	no_errors	ENST00000544814	ensembl	human	known	70_37	missense	SNP	0.907	A	A	8672598	G	A	8672598	3	1	74	1	0	0	0	0	1	0	0	0	2227	1203	42	4	737	4	C3orf32	3	8672598	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5599939	8672598	189349832	221	10916										
C3orf24	115795	genome.wustl.edu	37	chr3	10146175	10146175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagaatctactccactgaggCggatgggctggggcttcctg	14	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:10146175C>T	ENST00000450660.2	-	2	500	c.284G>A	c.(283-285)cGc>cAc	p.R95H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R95H	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	95																	TCCACTGAGGCGGATGGGCTG	0.522																																																	0													117	108	111					3																	10146175		2203	4300	6503	SO:0001583	missense	115795			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 24"	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.284G>A	3.37:g.10146175C>T	ENSP00000429608:p.Arg95His			Missense_Mutation	SNP	NULL	p.R95H	ENST00000450660.2	37	c.284	CCDS2596.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415681	0.83449	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.40956	0.1138	L	0.29908	0.895	0.46396	D	0.999026	D	0.55385	0.971	B	0.37015	0.239	T	0.50030	-0.8875	9	0.87932	D	0	.	17.1639	0.86810	0.0:1.0:0.0:0.0	.	95	Q96PS1	CC024_HUMAN	H	95	.	ENSP00000429608:R95H	R	-	2	0	C3orf24	10121175	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.092000	0.50207	2.665000	0.90641	0.650000	0.86243	CGC	FANCD2OS	-	NULL		0.522	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2OS	HGNC	protein_coding	OTTHUMT00000339891.2	C	NM_173472		10146175	-1	no_errors	ENST00000450660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10146175	C	T	10146175	3	4	74	1	0	0	0	0	1	0	0	0	2222	768	27	2	253	2	C3orf24	3	10146175	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1473577	10146175	187876255	222	10917										
SLC6A6	6533	genome.wustl.edu	37	chr3	14487300	14487300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttcttggagatcatcatagGccagtacacctctgaagggg	11	9	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:14487300G>A	ENST00000454876.2	+	4	634	c.305G>A	c.(304-306)gGc>gAc	p.G102D	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.G102D|SLC6A6_ENST00000360861.3_Missense_Mutation_p.G102D			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	102					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATCATCATAGGCCAGTACACC	0.522																																																	0													149	135	140					3																	14487300		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.305G>A	3.37:g.14487300G>A	ENSP00000398063:p.Gly102Asp		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.G102D	ENST00000454876.2	37	c.305	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870951	0.91587	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216;ENST00000452775	D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97922	1.0315	10	0.87932	D	0	.	17.4813	0.87673	0.0:0.0:1.0:0.0	.	102	P31641	SC6A6_HUMAN	D	102	ENSP00000398063:G102D;ENSP00000354107:G102D;ENSP00000401167:G102D;ENSP00000402059:G102D	ENSP00000354107:G102D	G	+	2	0	SLC6A6	14462304	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.668000	0.98619	2.123000	0.65237	0.484000	0.47621	GGC	SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.522	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	G	NM_003043		14487300	1	no_errors	ENST00000360861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14487300	G	A	14487300	3	1	74	1	0	0	0	0	1	0	0	0	14718	1203	42	4	311	4	SLC6A6	3	14487300	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4341125	14487300	183535130	223	10918										
SLC4A7	9497	genome.wustl.edu	37	chr3	27473106	27473106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attctcctctcaaggaaaggTttgaggcagacagacctgtt	10	9	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:27473106T>C	ENST00000295736.5	-	7	876	c.806A>G	c.(805-807)aAc>aGc	p.N269S	SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N265S|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N278S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N265S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N261S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N261S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	269					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CAAGGAAAGGTTTGAGGCAGA	0.468																																																	0													88	98	94					3																	27473106		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.806A>G	3.37:g.27473106T>C	ENSP00000295736:p.Asn269Ser		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.N278S	ENST00000295736.5	37	c.833	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353761	0.11182	.	.	ENSG00000033867	ENST00000295736;ENST00000454389;ENST00000440156;ENST00000446700;ENST00000445684;ENST00000425128	T;T;T;T;T;T	0.77750	-0.13;-0.13;-1.12;-1.12;-1.12;0.39	5.98	2.38	0.29361	Bicarbonate transporter, cytoplasmic (1);	0.199365	0.40302	N	0.001126	T	0.45155	0.1328	N	0.01505	-0.83	0.24839	N	0.992477	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.002	T	0.35201	-0.9798	10	0.08179	T	0.78	.	8.7919	0.34857	0.0:0.196:0.0:0.804	.	265;261;265;278;269	E9PFN4;E9PGC1;B5M453;E9PDL9;Q9Y6M7	.;.;.;.;S4A7_HUMAN	S	269;278;265;261;265;261	ENSP00000295736:N269S;ENSP00000390394:N278S;ENSP00000414797:N265S;ENSP00000406605:N261S;ENSP00000406804:N265S;ENSP00000401949:N261S	ENSP00000295736:N269S	N	-	2	0	SLC4A7	27448110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.332000	0.43903	0.182000	0.20032	0.482000	0.46254	AAC	SLC4A7	-	pfam_HCO3_transpt_cyt		0.468	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	T	NM_003615		27473106	-1	no_errors	ENST00000454389	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27473106	T	C	27473106	3	2	74	1	0	0	0	0	1	0	0	0	14688	1725	60	5	2914	5	SLC4A7	3	27473106	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	12985806	27473106	170549324	224	10919										
DCLK3	85443	genome.wustl.edu	37	chr3	36756869	36756869	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggctccggaagtgaccctCgctgctgggggacacctgct	14	14	0	1	rs560482238		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:36756869C>G	ENST00000416516.2	-	5	2387	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	633			E -> D (in dbSNP:rs35704209). {ECO:0000269|PubMed:17344846}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E633K(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGTGACCCTCGCTGCTGGGG	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											72	73	73					3																	36756869		2050	4199	6249	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1897G>C	3.37:g.36756869C>G	ENSP00000394484:p.Glu633Gln			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.E633Q	ENST00000416516.2	37	c.1897	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286373	0.59867	.	.	ENSG00000163673	ENST00000416516	T	0.68479	-0.33	5.75	4.87	0.63330	Protein kinase-like domain (1);	.	.	.	.	T	0.58366	0.2117	L	0.27053	0.805	0.34187	D	0.671653	P	0.44986	0.847	B	0.42771	0.397	T	0.69007	-0.5259	9	0.39692	T	0.17	.	16.7419	0.85461	0.1299:0.8701:0.0:0.0	.	633	Q9C098	DCLK3_HUMAN	Q	633	ENSP00000394484:E633Q	ENSP00000394484:E633Q	E	-	1	0	DCLK3	36731873	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	3.792000	0.55476	1.552000	0.49463	0.655000	0.94253	GAG	DCLK3	-	superfamily_Kinase-like_dom		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	C	XM_047355		36756869	-1	no_errors	ENST00000416516	ensembl	human	known	70_37	missense	SNP	0.987	G	G	36756869	C	G	36756869	3	3	74	1	0	0	0	0	1	0	0	0	4298	893	31	1	53	1	DCLK3	3	36756869	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	9283763	36756869	161265561	225	10920										
MLH1	4292	genome.wustl.edu	37	chr3	37055922	37055922	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagaatctcttttctaataGagaactgatagaaattggat	7	5	3	4	rs267607784		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:37055922G>A	ENST00000231790.2	+	9	893		c.e9-1		MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000536378.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000435176.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTTTCTAATAGAGAACTGATA	0.323		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)	GRCh37	CS056763|CS994671	MLH1	S							45	45	45					3																	37055922		2203	4300	6503	SO:0001630	splice_region_variant	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.678-1G>A	3.37:g.37055922G>A			B4DI13|B4DQ11|E9PCU2	Splice_Site	SNP	-	e9-1	ENST00000231790.2	37	c.678-1	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026267	0.75390	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000456676;ENST00000435176	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8412	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLH1	37030926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.340000	0.97038	2.703000	0.92315	0.655000	0.94253	.	MLH1	-	-		0.323	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	G	NM_000249	Intron	37055922	1	no_errors	ENST00000231790	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	37055922	G	A	37055922	5	1	74	1	0	0	0	0	0	0	1	0	9640	956	33	1	711	1	MLH1	3	37055922	Splice_Site	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	299053	37055922	160966508	226	10921										
SCN10A	6336	genome.wustl.edu	37	chr3	38743431	38743431	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcatgacacattcgcctgtgAagacggccacaaagaactgg	10	11	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:38743431A>C	ENST00000449082.2	-	26	4555	c.4556T>G	c.(4555-4557)tTc>tGc	p.F1519C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1519					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTCGCCTGTGAAGACGGCCAC	0.448																																																	0													163	138	147					3																	38743431		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4556T>G	3.37:g.38743431A>C	ENSP00000390600:p.Phe1519Cys		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.F1519C	ENST00000449082.2	37	c.4556	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055907	0.76074	.	.	ENSG00000185313	ENST00000449082	D	0.99060	-5.38	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.99516	4.605	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97271	0.9911	10	0.87932	D	0	.	14.2198	0.65818	1.0:0.0:0.0:0.0	.	1519	Q9Y5Y9	SCNAA_HUMAN	C	1519	ENSP00000390600:F1519C	ENSP00000390600:F1519C	F	-	2	0	SCN10A	38718435	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	9.081000	0.94049	1.942000	0.56320	0.416000	0.27883	TTC	SCN10A	-	pfam_Ion_trans_dom		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	A	NM_006514		38743431	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38743431	A	C	38743431	3	2	74	1	0	0	0	0	1	0	0	0	13942	246	9	5	1322	5	SCN10A	3	38743431	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1687509	38743431	159278999	227	10922										
DAG1	1605	genome.wustl.edu	37	chr3	49570228	49570228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttccggccgtggtggtcgcaGccatcctgctcattgctggc	13	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49570228G>T	ENST00000539901.1	+	3	2842	c.2284G>T	c.(2284-2286)Gcc>Tcc	p.A762S	DAG1_ENST00000541308.1_Missense_Mutation_p.A762S|DAG1_ENST00000545947.1_Missense_Mutation_p.A762S|DAG1_ENST00000538711.1_Missense_Mutation_p.A762S|DAG1_ENST00000515359.2_Missense_Mutation_p.A762S|DAG1_ENST00000308775.2_Missense_Mutation_p.A762S	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	762					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGGTCGCAGCCATCCTGCT	0.582																																																	0													57	46	50					3																	49570228		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2284G>T	3.37:g.49570228G>T	ENSP00000439334:p.Ala762Ser		A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.A762S	ENST00000539901.1	37	c.2284	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347409	0.82022	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.69386	-0.5159	9	.	.	.	-28.9866	18.3433	0.90313	0.0:0.0:1.0:0.0	.	762	Q14118	DAG1_HUMAN	S	762	ENSP00000440705:A762S;ENSP00000312435:A762S;ENSP00000442600:A762S;ENSP00000440590:A762S;ENSP00000439334:A762S;ENSP00000438421:A762S	.	A	+	1	0	DAG1	49545232	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	GCC	DAG1	-	pfam_DAG1		0.582	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	G			49570228	1	no_errors	ENST00000308775	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49570228	G	T	49570228	3	4	74	1	0	0	0	0	1	0	0	0	4230	971	34	4	2290	4	DAG1	3	49570228	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10826797	49570228	148452202	228	10923										
BSN	8927	genome.wustl.edu	37	chr3	49699404	49699404	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatccaagttctcgcctattGaagaggccaaagacgtagag	10	9	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49699404G>C	ENST00000296452.4	+	6	10240	c.10126G>C	c.(10126-10128)Gaa>Caa	p.E3376Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3376					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCGCCTATTGAAGAGGCCAA	0.577																																																	0													69	74	73					3																	49699404		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10126G>C	3.37:g.49699404G>C	ENSP00000296452:p.Glu3376Gln		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E3376Q	ENST00000296452.4	37	c.10126	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215453	0.39102	.	.	ENSG00000164061	ENST00000296452	T	0.19532	2.14	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.17872	0.535	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06534	-1.0821	10	0.20046	T	0.44	-12.3537	18.9713	0.92716	0.0:0.0:1.0:0.0	.	3376	Q9UPA5	BSN_HUMAN	Q	3376	ENSP00000296452:E3376Q	ENSP00000296452:E3376Q	E	+	1	0	BSN	49674408	1.000000	0.71417	0.938000	0.37757	0.931000	0.56810	9.869000	0.99810	2.574000	0.86865	0.561000	0.74099	GAA	BSN	-	NULL		0.577	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49699404	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49699404	G	C	49699404	3	2	74	1	0	0	0	0	1	0	0	0	1533	1291	45	1	10148	1	BSN	3	49699404	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	129176	49699404	148323026	229	10924										
MST1	327	genome.wustl.edu	37	chr3	49723358	49723358	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccttgcgggtcttgctgacCgtgccgcggtactgctcccc	12	17	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49723358C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Silent_p.T395T|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTTGCTGACCGTGCCGCGGT	0.726																																																	0													24	25	25					3																	49723358		2191	4282	6473	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723358C>T			Q9BQ33|Q9P0Y2	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T395	ENST00000296456.5	37	c.1185	CCDS2801.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.726	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	C			49723358	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49723358	C	T	49723358	1	4	74	0	1	0	0	0	0	0	0	0	9913	639	23	2		2	MST1	3	49723358	IGR	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	23954	49723358	148299072	230	10925										
CDHR4	389118	genome.wustl.edu	37	chr3	49832787	49832787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgcgagctaactctaggggCgtggtggtccggaccacacc	15	12	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49832787C>T	ENST00000412678.2	-	8	881	c.873G>A	c.(871-873)acG>acA	p.T291T	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	291	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACTCTAGGGGCGTGGTGGTCC	0.637																																																	0													59	62	61					3																	49832787		692	1591	2283	SO:0001819	synonymous_variant	389118				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.873G>A	3.37:g.49832787C>T			Q6UXT0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T291	ENST00000412678.2	37	c.873	CCDS46829.1	3																																																																																			CDHR4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.637	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	C	NM_001007540		49832787	-1	no_errors	ENST00000412678	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49832787	C	T	49832787	2	4	74	1	0	0	0	0	0	0	0	1	3126	755	27	2		2	CDHR4	3	49832787	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	109429	49832787	148189643	231	10926										
VPRBP	9730	genome.wustl.edu	37	chr3	51452260	51452260	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctcttgtagttgttggcaaGatctgggttaaacagagtca	11	7	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:51452260G>C	ENST00000335891.5	-	11	2317	c.2308C>G	c.(2308-2310)Ctt>Gtt	p.L770V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1219					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTGTTGGCAAGATCTGGGTTA	0.443																																																	0													108	99	102					3																	51452260		1915	4121	6036	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2308C>G	3.37:g.51452260G>C	ENSP00000338857:p.Leu770Val		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L770V	ENST00000335891.5	37	c.2308		3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277192	0.80580	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.56941	0.43;0.43	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.63843	1.955	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.66464	-0.5917	10	0.45353	T	0.12	-15.5469	14.7534	0.69546	0.0685:0.0:0.9315:0.0	.	1219	Q9Y4B6	VPRBP_HUMAN	V	790;770	ENSP00000393183:L790V;ENSP00000338857:L770V	ENSP00000338857:L770V	L	-	1	0	VPRBP	51427300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.890000	0.99128	0.650000	0.86243	CTT	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.443	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		G	NM_014703		51452260	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51452260	G	C	51452260	3	2	74	1	0	0	0	0	1	0	0	0	17216	942	33	1	896	1	VPRBP	3	51452260	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1619473	51452260	146570170	232	10927										
ACY1	95	genome.wustl.edu	37	chr3	52021613	52021613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctggtgccaggcagctggCgagggggtcaccctagagtt	17	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:52021613C>T	ENST00000404366.2	+	12	1040	c.894C>T	c.(892-894)ggC>ggT	p.G298G	ACY1_ENST00000494103.1_Silent_p.G226G|ACY1_ENST00000476351.1_Silent_p.G263G|ACY1_ENST00000476854.1_Silent_p.G233G|ACY1_ENST00000458031.2_Silent_p.G388G|ABHD14A-ACY1_ENST00000463937.1_Silent_p.G399G	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	298					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	AGGCAGCTGGCGAGGGGGTCA	0.577																																																	0													45	51	49					3																	52021613		2203	4300	6503	SO:0001819	synonymous_variant	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.894C>T	3.37:g.52021613C>T			C9J6I6|C9J9D8|C9JWD4	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.G388	ENST00000404366.2	37	c.1164	CCDS2844.1	3																																																																																			ACY1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase		0.577	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1	C	NM_000666		52021613	1	no_errors	ENST00000458031	ensembl	human	known	70_37	silent	SNP	0.486	T	T	52021613	C	T	52021613	2	4	74	1	0	0	0	0	0	0	0	1	226	755	27	2		2	ACY1	3	52021613	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	569353	52021613	146000817	233	10928										
GNL3	26354	genome.wustl.edu	37	chr3	52723096	52723096	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttttccttgataggtgattGaagcctccgatgttgtccta	9	8	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:52723096G>A	ENST00000418458.1	+	6	588	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000391191.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000516978.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.E127K	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	139	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATAGGTGATTGAAGCCTCCGA	0.438																																																	0													190	186	187					3																	52723096		2203	4300	6503	SO:0001583	missense	26354			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.415G>A	3.37:g.52723096G>A	ENSP00000395772:p.Glu139Lys		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain	p.E139K	ENST00000418458.1	37	c.415	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643946	0.67244	.	.	ENSG00000163938	ENST00000479230;ENST00000418458;ENST00000394799	T;T;T	0.53640	0.61;2.54;2.54	5.55	4.67	0.58626	.	0.135748	0.64402	N	0.000003	T	0.45155	0.1328	L	0.48877	1.53	0.80722	D	1	B	0.23937	0.094	B	0.29524	0.103	T	0.42548	-0.9445	10	0.59425	D	0.04	.	14.2545	0.66043	0.072:0.0:0.928:0.0	.	139	Q9BVP2	GNL3_HUMAN	K	127;139;127	ENSP00000419734:E127K;ENSP00000395772:E139K;ENSP00000378278:E127K	ENSP00000378278:E127K	E	+	1	0	GNL3	52698136	1.000000	0.71417	0.779000	0.31741	0.926000	0.56050	7.590000	0.82653	1.326000	0.45319	0.655000	0.94253	GAA	GNL3	-	NULL		0.438	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	G	NM_014366		52723096	1	no_errors	ENST00000418458	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52723096	G	A	52723096	3	1	74	1	0	0	0	0	1	0	0	0	6556	1291	45	1	437	1	GNL3	3	52723096	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	701483	52723096	145299334	234	10929										
CACNA2D3	55799	genome.wustl.edu	37	chr3	55052341	55052341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tattgcttgtgaagactgctCcaagtaagccatccccccac	7	14	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:55052341C>T	ENST00000474759.1	+	35	3032	c.2984C>T	c.(2983-2985)tCc>tTc	p.S995F	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S901F|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S995F|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S995F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	995						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GAAGACTGCTCCAAGTAAGCC	0.507																																																	0													74	73	73					3																	55052341		1965	4161	6126	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2984C>T	3.37:g.55052341C>T	ENSP00000419101:p.Ser995Phe		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S995F	ENST00000474759.1	37	c.2984	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527538	0.27299	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.4	4.52	0.55395	.	0.205843	0.43110	D	0.000605	T	0.25975	0.0633	N	0.03608	-0.345	0.32631	N	0.521995	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	10	0.54805	T	0.06	.	6.0063	0.19549	0.0:0.7935:0.0:0.2065	.	995	Q8IZS8	CA2D3_HUMAN	F	995;995;995;901;901	ENSP00000389506:S995F;ENSP00000419101:S995F;ENSP00000288197:S995F;ENSP00000417279:S901F	ENSP00000288197:S995F	S	+	2	0	CACNA2D3	55027381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.495000	0.66912	2.522000	0.85027	0.563000	0.77884	TCC	CACNA2D3	-	NULL		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			55052341	1	no_errors	ENST00000288197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55052341	C	T	55052341	3	4	74	1	0	0	0	0	1	0	0	0	2555	855	30	1	3122	1	CACNA2D3	3	55052341	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2329245	55052341	142970089	235	10930										
ATXN7	6314	genome.wustl.edu	37	chr3	63976453	63976453	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcagataggaagaggctatTacgtgtttgactccaggtgg	15	6	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:63976453T>G	ENST00000295900.6	+	11	2150	c.1600T>G	c.(1600-1602)Tac>Gac	p.Y534D	ATXN7_ENST00000538065.1_Missense_Mutation_p.Y534D|ATXN7_ENST00000487717.1_Missense_Mutation_p.Y534D|ATXN7_ENST00000398590.3_Missense_Mutation_p.Y534D|ATXN7_ENST00000484332.1_Missense_Mutation_p.Y389D	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	534					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAGAGGCTATTACGTGTTTGA	0.527																																																	0													147	144	145					3																	63976453		2061	4211	6272	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1600T>G	3.37:g.63976453T>G	ENSP00000295900:p.Tyr534Asp		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	pfam_SCA7_dom	p.Y534D	ENST00000295900.6	37	c.1600	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904211	0.92035	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.47	5.47	0.80525	.	0.059692	0.64402	D	0.000002	T	0.69251	0.3090	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	P;D;D	0.70716	0.853;0.97;0.961	T	0.73962	-0.3817	10	0.87932	D	0	-13.6106	15.8413	0.78848	0.0:0.0:0.0:1.0	.	389;534;534	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	D	534;534;534;534;389	ENSP00000381590:Y534D;ENSP00000295900:Y534D;ENSP00000420234:Y534D;ENSP00000439585:Y534D;ENSP00000428277:Y389D	ENSP00000295900:Y534D	Y	+	1	0	ATXN7	63951493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.235000	0.72332	2.202000	0.70862	0.533000	0.62120	TAC	ATXN7	-	NULL		0.527	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	T	NM_000333		63976453	1	no_errors	ENST00000398590	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63976453	T	G	63976453	3	3	74	1	0	0	0	0	1	0	0	0	1216	1754	61	5	1702	5	ATXN7	3	63976453	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	8924112	63976453	134045977	236	10931										
DCBLD2	131566	genome.wustl.edu	37	chr3	98539110	98539110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accacttgtcttaaatgtaaAaagacttgtagataagtgtc	7	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:98539110A>G	ENST00000326840.6	-	7	1215	c.853T>C	c.(853-855)Ttt>Ctt	p.F285L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.F285L|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	285	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTAAATGTAAAAAGACTTGTA	0.313																																																	0													73	69	70					3																	98539110		1799	4071	5870	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.853T>C	3.37:g.98539110A>G	ENSP00000321573:p.Phe285Leu		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.F285L	ENST00000326840.6	37	c.853	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849801	0.91277	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.90069	-2.61;-2.61	5.54	5.54	0.83059	LCCL (3);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	M	0.82923	2.615	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.79108	0.814;0.992	D	0.94312	0.7546	10	0.49607	T	0.09	-17.7971	13.6364	0.62225	1.0:0.0:0.0:0.0	.	285;285	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	L	285	ENSP00000321573:F285L;ENSP00000321646:F285L	ENSP00000321573:F285L	F	-	1	0	DCBLD2	100021800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.623000	0.83113	2.107000	0.64212	0.528000	0.53228	TTT	DCBLD2	-	superfamily_LCCL,pfscan_LCCL		0.313	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	A	NM_080927		98539110	-1	no_errors	ENST00000326857	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98539110	A	G	98539110	3	3	74	1	0	0	0	0	1	0	0	0	4286	14	1	5	1514	5	DCBLD2	3	98539110	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	34562657	98539110	99483320	237	10932										
TOMM70A	9868	genome.wustl.edu	37	chr3	100105139	100105139	+	Missense_Mutation	SNP	T	T	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagctttcacatatttgggaTtaagttcaacagcttttgta							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:100105139T>A	ENST00000284320.5	-	3	996	c.548A>T	c.(547-549)aAt>aTt	p.N183I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	183					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATATTTGGGATTAAGTTCAAC	0.343																																																	0													162	155	158					3																	100105139		2202	4300	6502	SO:0001583	missense	9868			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.548A>T	3.37:g.100105139T>A	ENSP00000284320:p.Asn183Ile		D3DN48	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N183I	ENST00000284320.5	37	c.548	CCDS33807.1	3	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904490	0.92035	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.60672	0.17	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90045	0.4145	10	0.72032	D	0.01	-24.9348	16.6407	0.85098	0.0:0.0:0.0:1.0	.	183	O94826	TOM70_HUMAN	I	183;76	ENSP00000284320:N183I	ENSP00000284320:N183I	N	-	2	0	TOMM70A	101587829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	2.326000	0.78906	0.533000	0.62120	AAT	TOMM70A	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.343	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	T			100105139	-1	no_errors	ENST00000284320	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100105139	T	A	100105139	3	1	74	1	0	0	0	0	1	0	0	0	16393	1493	52	5	1318	5	TOMM70A	3	100105139	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1566029	100105139	97917291	238	10933	58	2								
TOMM70A	9868	genome.wustl.edu	37	chr3	100105146	100105146	+	Missense_Mutation	SNP	C	C	G													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacatatttgggattaagttCaacagcttttgtacagtctt							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:100105146C>G	ENST00000284320.5	-	3	989	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	181					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGATTAAGTTCAACAGCTTTT	0.338																																																	0													162	154	157					3																	100105146		2202	4300	6502	SO:0001583	missense	9868			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.541G>C	3.37:g.100105146C>G	ENSP00000284320:p.Glu181Gln		D3DN48	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E181Q	ENST00000284320.5	37	c.541	CCDS33807.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023834	0.75390	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.60171	0.21	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.042031	0.85682	D	0.000000	T	0.62011	0.2393	M	0.62154	1.92	0.80722	D	1	P	0.38617	0.64	B	0.40602	0.334	T	0.58572	-0.7613	10	0.36615	T	0.2	-17.8614	20.6593	0.99626	0.0:1.0:0.0:0.0	.	181	O94826	TOM70_HUMAN	Q	181;74	ENSP00000284320:E181Q	ENSP00000284320:E181Q	E	-	1	0	TOMM70A	101587836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	GAA	TOMM70A	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.338	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	C			100105146	-1	no_errors	ENST00000284320	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100105146	C	G	100105146	3	3	74	1	0	0	0	0	1	0	0	0	16393	835	29	1	1325	1	TOMM70A	3	100105146	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7	100105146	97917284	239	10934	58	2								
CBLB	868	genome.wustl.edu	37	chr3	105420966	105420966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttctaaaggcaaatcatggCgtctgtgtttccgcataagc	9	10	3	0	rs138175657		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:105420966C>T	ENST00000264122.4	-	12	2252	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CBLB_ENST00000394027.3_Missense_Mutation_p.R666H|CBLB_ENST00000403724.1_Missense_Mutation_p.R644H|CBLB_ENST00000405772.1_Missense_Mutation_p.R644H	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	644	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CAAATCATGGCGTCTGTGTTT	0.463			Mis S		AML								C|||	1	0.000199681	0	0	5008	,	,		18308	0		0.001	False		,,,				2504	0				GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133	137	136		1931	5.7	1	3	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	644/983	105420966	2,13004	2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1931G>A	3.37:g.105420966C>T	ENSP00000264122:p.Arg644His		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.R644H	ENST00000264122.4	37	c.1931	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872228	0.51695	2.27E-4	1.16E-4	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.84589	-1.24;-1.84;-1.87;-1.87;-1.87	5.73	5.73	0.89815	.	0.547984	0.21598	N	0.071982	D	0.83575	0.5284	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.824;0.89;0.882	B;B;B	0.37480	0.197;0.251;0.247	D	0.86466	0.1782	10	0.87932	D	0	-2.7999	18.0796	0.89438	0.0:1.0:0.0:0.0	.	666;644;644	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	H	27;644;666;644;644	ENSP00000377598:R27H;ENSP00000264122:R644H;ENSP00000377595:R666H;ENSP00000384816:R644H;ENSP00000384938:R644H	ENSP00000264122:R644H	R	-	2	0	CBLB	106903656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.180000	0.58296	2.697000	0.92050	0.585000	0.79938	CGC	CBLB	-	NULL		0.463	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105420966	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105420966	C	T	105420966	3	4	74	1	0	0	0	0	1	0	0	0	2706	768	27	2	1049	2	CBLB	3	105420966	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5315820	105420966	92601464	240	10935										
BBX	56987	genome.wustl.edu	37	chr3	107492169	107492169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaagaaaaaagtgaaatcaaGagagaagaaaatgtcaaagg	10	2	2	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:107492169G>C	ENST00000325805.8	+	11	1888	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	BBX_ENST00000415149.2_Missense_Mutation_p.R534T|BBX_ENST00000402543.1_Missense_Mutation_p.R534T|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.R534T			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	534	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGAAATCAAGAGAGAAGAAA	0.438																																																	0													78	77	77					3																	107492169		2203	4300	6503	SO:0001583	missense	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1601G>C	3.37:g.107492169G>C	ENSP00000319974:p.Arg534Thr		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R534T	ENST00000325805.8	37	c.1601	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144002	0.37825	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.07	1.78	0.24846	.	0.093067	0.64402	D	0.000001	T	0.19446	0.0467	N	0.08118	0	0.26004	N	0.98208	P;P;B	0.37914	0.611;0.611;0.145	B;B;B	0.29524	0.103;0.103;0.031	T	0.11324	-1.0592	10	0.30854	T	0.27	-7.5466	6.7061	0.23252	0.6321:0.0:0.3679:0.0	.	534;534;534	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	T	534	ENSP00000408358:R534T;ENSP00000385317:R534T;ENSP00000319974:R534T;ENSP00000385530:R534T	ENSP00000319974:R534T	R	+	2	0	BBX	108974859	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.731000	0.62022	0.445000	0.26639	0.585000	0.79938	AGA	BBX	-	NULL		0.438	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	G	NM_020235		107492169	1	no_errors	ENST00000325805	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107492169	G	C	107492169	3	2	74	1	0	0	0	0	1	0	0	0	1344	942	33	1	1631	1	BBX	3	107492169	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2071203	107492169	90530261	241	10936										
MYH15	22989	genome.wustl.edu	37	chr3	108172921	108172921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctctggcttggaacaatgtGaagactttagatagtctctc	10	8	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:108172921G>C	ENST00000273353.3	-	22	2447	c.2391C>G	c.(2389-2391)ttC>ttG	p.F797L	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	797	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGAACAATGTGAAGACTTTAG	0.438																																																	0													108	99	102					3																	108172921		1887	4117	6004	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2391C>G	3.37:g.108172921G>C	ENSP00000273353:p.Phe797Leu			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.F797L	ENST00000273353.3	37	c.2391	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290383	0.23478	.	.	ENSG00000144821	ENST00000273353	T	0.70631	-0.5	5.32	2.36	0.29203	.	.	.	.	.	T	0.37625	0.1010	N	0.02120	-0.675	0.31954	N	0.609252	B	0.06786	0.001	B	0.06405	0.002	T	0.35674	-0.9779	9	0.19147	T	0.46	.	4.4626	0.11673	0.249:0.0:0.5221:0.2289	.	797	Q9Y2K3	MYH15_HUMAN	L	797	ENSP00000273353:F797L	ENSP00000273353:F797L	F	-	3	2	MYH15	109655611	0.108000	0.22018	0.567000	0.28434	0.923000	0.55619	-0.974000	0.03794	0.731000	0.32448	0.655000	0.94253	TTC	MYH15	-	NULL		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108172921	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.998	C	C	108172921	G	C	108172921	3	2	74	1	0	0	0	0	1	0	0	0	10057	1281	45	1	3533	1	MYH15	3	108172921	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	680752	108172921	89849509	242	10937										
MORC1	27136	genome.wustl.edu	37	chr3	108698464	108698464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgccactcacagaaactctgGctatgtgtccagaacttaga	8	11	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:108698464G>T	ENST00000483760.1	-	23	2355	c.2312C>A	c.(2311-2313)gCc>gAc	p.A771D	MORC1_ENST00000232603.5_Missense_Mutation_p.A792D					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAAACTCTGGCTATGTGTCC	0.403																																																	0													123	115	118					3																	108698464		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2312C>A	3.37:g.108698464G>T	ENSP00000417282:p.Ala771Asp			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.A792D	ENST00000483760.1	37	c.2375		3	.	.	.	.	.	.	.	.	.	.	G	9.107	1.005511	0.19199	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06371	3.32;3.31	5.03	-4.26	0.03755	.	1.962640	0.02477	N	0.088074	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37454	-0.9705	10	0.12103	T	0.63	1.802	2.7898	0.05384	0.154:0.0956:0.3582:0.3922	.	771;792	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	792;771	ENSP00000232603:A792D;ENSP00000417282:A771D	ENSP00000232603:A792D	A	-	2	0	MORC1	110181154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.321000	0.08018	-0.897000	0.03910	-2.147000	0.00335	GCC	MORC1	-	NULL		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G			108698464	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	missense	SNP	0.000	T	T	108698464	G	T	108698464	3	4	74	1	0	0	0	0	1	0	0	0	9724	1203	42	4	599	4	MORC1	3	108698464	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	525543	108698464	89323966	243	10938										
MORC1	27136	genome.wustl.edu	37	chr3	108751642	108751642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttcctgataattagtagagGaaggcaagactctccattta	8	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:108751642G>A	ENST00000483760.1	-	16	1533	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	MORC1_ENST00000232603.5_Missense_Mutation_p.S497F					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTAGTAGAGGAAGGCAAGAC	0.308																																																	0													57	60	59					3																	108751642		2200	4294	6494	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1490C>T	3.37:g.108751642G>A	ENSP00000417282:p.Ser497Phe			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S497F	ENST00000483760.1	37	c.1490		3	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253272	0.39797	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05855	3.38;3.38	4.73	4.73	0.59995	Zinc finger, CW-type (2);	0.492580	0.17358	N	0.177153	T	0.06234	0.0161	N	0.25332	0.735	0.31217	N	0.697893	B;B	0.18461	0.028;0.001	B;B	0.19666	0.026;0.009	T	0.03597	-1.1021	10	0.46703	T	0.11	-0.005	13.0711	0.59061	0.0:0.0:1.0:0.0	.	497;497	E7ERX1;Q86VD1	.;MORC1_HUMAN	F	497	ENSP00000232603:S497F;ENSP00000417282:S497F	ENSP00000232603:S497F	S	-	2	0	MORC1	110234332	0.200000	0.23398	0.800000	0.32199	0.947000	0.59692	1.637000	0.37155	2.439000	0.82584	0.655000	0.94253	TCC	MORC1	-	pfam_Znf_CW,pfscan_Znf_CW		0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G			108751642	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	missense	SNP	0.864	A	A	108751642	G	A	108751642	3	1	74	1	0	0	0	0	1	0	0	0	9724	1174	41	1	1516	1	MORC1	3	108751642	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	53178	108751642	89270788	244	10939										
DPPA4	55211	genome.wustl.edu	37	chr3	109049375	109049375	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcatgttgcgcttaccagaGgcctcttgtggagattccac	10	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:109049375G>T	ENST00000335658.6	-	5	729	c.675C>A	c.(673-675)gcC>gcA	p.A225A	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	225					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCTTACCAGAGGCCTCTTGTG	0.483																																																	0													47	49	48					3																	109049375		2203	4300	6503	SO:0001819	synonymous_variant	55211			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.675C>A	3.37:g.109049375G>T			A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	NULL	p.A225	ENST00000335658.6	37	c.675	CCDS33814.1	3																																																																																			DPPA4	-	NULL		0.483	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	G	NM_018189		109049375	-1	no_errors	ENST00000335658	ensembl	human	known	70_37	silent	SNP	0.000	T	T	109049375	G	T	109049375	2	4	74	1	0	0	0	0	0	0	0	1	4746	987	35	4		4	DPPA4	3	109049375	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	297733	109049375	88973055	245	10940										
BOC	91653	genome.wustl.edu	37	chr3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctatctgattgtcggggtcGtcctgggctccatcgttctc	11	13	2	1	rs148702312	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000355385.3_Missense_Mutation_p.V861I|BOC_ENST00000273395.4_Missense_Mutation_p.V862I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	124	117	119		2581	5.7	1	3	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOC	NM_033254.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	861/1115	113002407	2,13004	2203	4300	6503	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2581G>A	3.37:g.113002407G>A	ENSP00000418663:p.Val861Ile		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V862I	ENST00000495514.1	37	c.2584	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.229469	0.95173	2.27E-4	1.16E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.63255	-0.03;-0.02;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.71600	-0.4544	10	0.22109	T	0.4	.	18.0536	0.89357	0.0:0.0:1.0:0.0	.	678;862;861	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	I	861;862;861	ENSP00000418663:V861I;ENSP00000273395:V862I;ENSP00000347546:V861I	ENSP00000273395:V862I	V	+	1	0	BOC	114485097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.102000	0.94226	2.699000	0.92147	0.563000	0.77884	GTC	BOC	-	NULL		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	G	NM_033254		113002407	1	no_errors	ENST00000273395	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113002407	G	A	113002407	3	1	74	1	0	0	0	0	1	0	0	0	1482	1145	40	2	2635	2	BOC	3	113002407	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3953032	113002407	85020023	246	10941										
KIAA2018	205717	genome.wustl.edu	37	chr3	113379988	113379988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgtactggcaccacattggCggtctgcttttgtaaattat	9	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:113379988C>T	ENST00000478658.1	-	5	558	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	KIAA2018_ENST00000316407.4_Missense_Mutation_p.A181T|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	181						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACCACATTGGCGGTCTGCTTT	0.438																																																	0													131	130	130					3																	113379988		1911	4119	6030	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.541G>A	3.37:g.113379988C>T	ENSP00000420721:p.Ala181Thr		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A181T	ENST00000478658.1	37	c.541	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834009	0.50951	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.20738	2.05;2.05	5.95	5.95	0.96441	.	0.069296	0.64402	D	0.000014	T	0.35451	0.0932	L	0.27053	0.805	0.51233	D	0.999912	D	0.76494	0.999	D	0.63793	0.918	T	0.05784	-1.0864	10	0.87932	D	0	-10.7996	20.3854	0.98941	0.0:1.0:0.0:0.0	.	181	Q68DE3	K2018_HUMAN	T	181	ENSP00000320794:A181T;ENSP00000420721:A181T	ENSP00000320794:A181T	A	-	1	0	KIAA2018	114862678	0.995000	0.38212	0.970000	0.41538	0.530000	0.34684	3.444000	0.52914	2.825000	0.97269	0.655000	0.94253	GCC	KIAA2018	-	NULL		0.438	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113379988	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	0.987	T	T	113379988	C	T	113379988	3	4	74	1	0	0	0	0	1	0	0	0	8288	768	27	2	6200	2	KIAA2018	3	113379988	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	377581	113379988	84642442	247	10942										
KIAA1407	57577	genome.wustl.edu	37	chr3	113761569	113761569	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccatcaaacttgtcatatttCaaatggccattggcttccgg	7	11	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:113761569C>G	ENST00000295878.3	-	4	542	c.396G>C	c.(394-396)ttG>ttC	p.L132F	KIAA1407_ENST00000480588.1_5'Flank|KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	132										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTCATATTTCAAATGGCCAT	0.338																																																	0													124	108	113					3																	113761569		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.396G>C	3.37:g.113761569C>G	ENSP00000295878:p.Leu132Phe		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.L132F	ENST00000295878.3	37	c.396	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205426	0.58234	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.49432	1.36;0.78	4.56	3.69	0.42338	.	0.980022	0.08349	N	0.959488	T	0.49695	0.1572	M	0.66939	2.045	0.58432	D	0.999997	P;P;P	0.45078	0.85;0.85;0.688	B;B;B	0.43575	0.424;0.325;0.246	T	0.44467	-0.9326	10	0.41790	T	0.15	.	8.4858	0.33071	0.0:0.7625:0.154:0.0835	.	119;8;132	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	F	132;119;96	ENSP00000295878:L132F;ENSP00000418099:L119F	ENSP00000295878:L132F	L	-	3	2	KIAA1407	115244259	0.558000	0.26554	0.512000	0.27736	0.806000	0.45545	0.847000	0.27696	1.280000	0.44463	0.591000	0.81541	TTG	KIAA1407	-	NULL		0.338	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113761569	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	0.719	G	G	113761569	C	G	113761569	3	3	74	1	0	0	0	0	1	0	0	0	8249	825	29	1	2470	1	KIAA1407	3	113761569	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	381581	113761569	84260861	248	10943										
GAP43	2596	genome.wustl.edu	37	chr3	115394992	115394992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaaaaagctcaaaggagagAagaaggatgatgtccaagct	13	5	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:115394992A>G	ENST00000305124.6	+	2	529	c.163A>G	c.(163-165)Aag>Gag	p.K55E	GAP43_ENST00000393780.3_Missense_Mutation_p.K91E	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	55	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CAAAGGAGAGAAGAAGGATGA	0.478																																																	0													96	95	95					3																	115394992		2203	4300	6503	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.163A>G	3.37:g.115394992A>G	ENSP00000305010:p.Lys55Glu		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.K55E	ENST00000305124.6	37	c.163	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949645	0.73787	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.37915	1.21;1.17	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.25380	0.74	0.51012	D	0.999903	P;P	0.48503	0.911;0.911	P;B	0.49387	0.609;0.432	T	0.06588	-1.0818	10	0.34782	T	0.22	-12.7284	14.9547	0.71104	1.0:0.0:0.0:0.0	.	91;55	A8K0Y4;P17677	.;NEUM_HUMAN	E	55;91	ENSP00000305010:K55E;ENSP00000377372:K91E	ENSP00000305010:K55E	K	+	1	0	GAP43	116877682	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.422000	0.66453	2.171000	0.68590	0.533000	0.62120	AAG	GAP43	-	pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin		0.478	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	A	NM_002045		115394992	1	no_errors	ENST00000305124	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115394992	A	G	115394992	3	3	74	1	0	0	0	0	1	0	0	0	6254	247	9	5	311	5	GAP43	3	115394992	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1633423	115394992	82627438	249	10944										
POLQ	10721	genome.wustl.edu	37	chr3	121206926	121206927	+	Frame_Shift_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggtcccagttaattttgaINStttttcagccctttcatctt							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121206926_121206927insT	ENST00000264233.5	-	16	4979_4980	c.4851_4852insA	c.(4849-4854)aaatcafs	p.S1618fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1618					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)			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)		GTTAATTTTGATTTTTCAGCCC	0.406								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0																																										SO:0001589	frameshift_variant	10721			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.4852dupA	3.37:g.121206931_121206931dupT	ENSP00000264233:p.Ser1618fs		O95160|Q6VMB5	Frame_Shift_Ins	INS	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.S1617fs	ENST00000264233.5	37	c.4852_4851	CCDS33833.1	3																																																																																			POLQ	-	NULL		0.406	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	NM_199420		121206927	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T	T	121206927	-	T	121206926	7	5	74	1	0	1	1	0	0	0	0	0	12232	333	12	0	2980	0	POLQ	3	121206926	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	5811934	121206926	76815504	250	10945										
GOLGB1	2804	genome.wustl.edu	37	chr3	121416739	121416739	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccatttttgttatttcaagTtccttctgtgaaagagcctg	7	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121416739T>A	ENST00000340645.5	-	13	2741	c.2616A>T	c.(2614-2616)gaA>gaT	p.E872D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E877D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	872					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATTTCAAGTTCCTTCTGTG	0.423																																																	0													141	147	145					3																	121416739		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2616A>T	3.37:g.121416739T>A	ENSP00000341848:p.Glu872Asp		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E872D	ENST00000340645.5	37	c.2616	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.95|13.95	2.390673|2.390673	0.42410|0.42410	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.28666|.	2.2;2.2;1.6|.	5.35|5.35	4.16|4.16	0.48862|0.48862	.|.	0.103582|.	0.44285|.	D|.	0.000475|.	T|T	0.52191|0.52191	0.1719|0.1719	L|L	0.48362|0.48362	1.52|1.52	0.35662|0.35662	D|D	0.812631|0.812631	D;D;D;D;D|.	0.71674|.	0.998;0.996;0.998;0.996;0.998|.	D;D;D;D;P|.	0.77557|.	0.979;0.987;0.99;0.987;0.875|.	T|T	0.58999|0.58999	-0.7536|-0.7536	10|5	0.20046|.	T|.	0.44|.	.|.	9.635|9.635	0.39802|0.39802	0.0:0.083:0.0:0.9169|0.0:0.083:0.0:0.9169	.|.	797;836;877;877;872|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|I	872;877;836;684|743	ENSP00000341848:E872D;ENSP00000377275:E877D;ENSP00000418231:E836D|.	ENSP00000341848:E872D|.	E|N	-|-	3|2	2|0	GOLGB1|GOLGB1	122899429|122899429	0.000000|0.000000	0.05858|0.05858	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	-0.112000|-0.112000	0.10791|0.10791	1.006000|1.006000	0.39211|0.39211	0.533000|0.533000	0.62120|0.62120	GAA|AAC	GOLGB1	-	NULL		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121416739	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.984	A	A	121416739	T	A	121416739	3	1	74	1	0	0	0	0	1	0	0	0	6584	1722	60	5	7203	5	GOLGB1	3	121416739	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	209813	121416739	76605691	251	10946										
IQCB1	9657	genome.wustl.edu	37	chr3	121514315	121514315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttttttacctgaaactcctCtgcaaagcaatcacagcaga	5	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121514315C>G	ENST00000310864.6	-	10	1189	c.975G>C	c.(973-975)caG>caC	p.Q325H	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	325	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGAAACTCCTCTGCAAAGCAA	0.353																																																	0													57	58	58					3																	121514315		2202	4299	6501	SO:0001583	missense	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.975G>C	3.37:g.121514315C>G	ENSP00000311505:p.Gln325His		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q325H	ENST00000310864.6	37	c.975	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253290	0.59212	.	.	ENSG00000173226	ENST00000310864;ENST00000460108	D;D	0.81996	-1.56;-1.56	4.7	1.94	0.25998	.	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	M	0.76328	2.33	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	D	0.86535	0.1824	10	0.72032	D	0.01	-6.7203	8.3662	0.32389	0.0:0.7444:0.0:0.2556	.	325	Q15051	IQCB1_HUMAN	H	325;141	ENSP00000311505:Q325H;ENSP00000419168:Q141H	ENSP00000311505:Q325H	Q	-	3	2	IQCB1	122997005	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.814000	0.27239	0.310000	0.22990	0.460000	0.39030	CAG	IQCB1	-	NULL		0.353	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	C	NM_014642		121514315	-1	no_errors	ENST00000310864	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121514315	C	G	121514315	3	3	74	1	0	0	0	0	1	0	0	0	7823	912	32	1	845	1	IQCB1	3	121514315	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	97576	121514315	76508115	252	10947										
SLC15A2	6565	genome.wustl.edu	37	chr3	121647918	121647918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacaatttgtctctctacacTgagcattctgtgcaggagaa	8	10	3	2	rs375529176		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121647918T>C	ENST00000489711.1	+	16	1819	c.1431T>C	c.(1429-1431)acT>acC	p.T477T	SLC15A2_ENST00000295605.2_Silent_p.T446T|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	477					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTCTCTACACTGAGCATTCTG	0.403																																																	0								T	,	0,4406		0,0,2203	221	208	213		1338,1431	-1.8	1	3		213	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC15A2	NM_001145998.1,NM_021082.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	446/699,477/730	121647918	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1431T>C	3.37:g.121647918T>C			A8K1A5|B4E2A7	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.T477	ENST00000489711.1	37	c.1431	CCDS3007.1	3																																																																																			SLC15A2	-	pfam_POT_fam,tigrfam_Oligopep_transport		0.403	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	T	NM_021082		121647918	1	no_errors	ENST00000489711	ensembl	human	known	70_37	silent	SNP	0.329	C	C	121647918	T	C	121647918	2	2	74	1	0	0	0	0	0	0	0	1	14429	1567	55	5		5	SLC15A2	3	121647918	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	133603	121647918	76374512	253	10948										
PARP14	54625	genome.wustl.edu	37	chr3	122437682	122437682	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aattagaggatgcaaggagaGaaaagaaaaaaacagttgat	11	2	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:122437682G>C	ENST00000474629.2	+	14	4950	c.4684G>C	c.(4684-4686)Gaa>Caa	p.E1562Q	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1562	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGCAAGGAGAGAAAAGAAAAA	0.353																																																	0													100	99	99					3																	122437682		1884	4122	6006	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4684G>C	3.37:g.122437682G>C	ENSP00000418194:p.Glu1562Gln		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E1562Q	ENST00000474629.2	37	c.4684	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	5.547	0.285726	0.10513	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.30182	1.54	5.23	0.141	0.14811	WWE domain (2);	1.449480	0.04028	N	0.300953	T	0.17704	0.0425	N	0.21142	0.635	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.12837	0.008;0.005	T	0.13899	-1.0492	10	0.16420	T	0.52	.	1.8465	0.03161	0.3285:0.131:0.4155:0.1251	.	1562;1562	Q460N5-4;Q460N5	.;PAR14_HUMAN	Q	1562;1481;165;558	ENSP00000418194:E1562Q	ENSP00000310633:E165Q	E	+	1	0	PARP14	123920372	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.310000	0.08135	-0.163000	0.10946	-0.142000	0.14014	GAA	PARP14	-	pfam_WWE-dom,pfscan_WWE-dom		0.353	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122437682	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.000	C	C	122437682	G	C	122437682	3	2	74	1	0	0	0	0	1	0	0	0	11482	943	33	1	4738	1	PARP14	3	122437682	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	789764	122437682	75584748	254	10949										
DIRC2	84925	genome.wustl.edu	37	chr3	122564695	122564695	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggagttctggacttaattTtaacaccagcgcatgtcagc	9	10	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:122564695T>G	ENST00000261038.5	+	5	1317	c.919T>G	c.(919-921)Tta>Gta	p.L307V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	307					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGACTTAATTTTAACACCAGC	0.338																																																	0													103	91	95					3																	122564695		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.919T>G	3.37:g.122564695T>G	ENSP00000261038:p.Leu307Val		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L307V	ENST00000261038.5	37	c.919	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609385	0.66558	.	.	ENSG00000138463	ENST00000261038	T	0.63580	-0.05	5.38	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	L	0.48935	1.535	0.48395	D	0.99964	D	0.54207	0.965	P	0.53062	0.717	T	0.59757	-0.7394	10	0.49607	T	0.09	.	7.0688	0.25167	0.0:0.1796:0.0:0.8204	.	307	Q96SL1	DIRC2_HUMAN	V	307	ENSP00000261038:L307V	ENSP00000261038:L307V	L	+	1	2	DIRC2	124047385	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.198000	0.42705	0.890000	0.36211	0.528000	0.53228	TTA	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.338	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	T	NM_032839		122564695	1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122564695	T	G	122564695	3	3	74	1	0	0	0	0	1	0	0	0	4544	1838	64	5	937	5	DIRC2	3	122564695	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	127013	122564695	75457735	255	10950										
CCDC37	348807	genome.wustl.edu	37	chr3	126153218	126153218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcaaaggagaaggagcggcGcatcaggtgagctctaggct	17	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:126153218G>A	ENST00000352312.1	+	15	1721	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	CCDC37_ENST00000505024.1_Missense_Mutation_p.R542H|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000393425.1_Missense_Mutation_p.R542H	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	541										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGGAGCGGCGCATCAGGTGA	0.622																																																	0													40	42	41					3																	126153218		2203	4300	6503	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1622G>A	3.37:g.126153218G>A	ENSP00000344749:p.Arg541His		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.R542H	ENST00000352312.1	37	c.1625	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117168	0.56505	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.56444	0.48;0.46;0.46	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.88105	2.93	0.40088	D	0.976214	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82786	-0.0285	10	0.87932	D	0	-7.3751	15.6117	0.76727	0.0:0.0:1.0:0.0	.	542;541	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	541;542;542	ENSP00000344749:R541H;ENSP00000377076:R542H;ENSP00000423046:R542H	ENSP00000344749:R541H	R	+	2	0	CCDC37	127635908	0.999000	0.42202	0.155000	0.22561	0.178000	0.23041	4.641000	0.61375	2.265000	0.75225	0.467000	0.42956	CGC	CCDC37	-	NULL		0.622	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126153218	1	no_errors	ENST00000393425	ensembl	human	known	70_37	missense	SNP	0.477	A	A	126153218	G	A	126153218	3	1	74	1	0	0	0	0	1	0	0	0	2814	1087	38	2	1676	2	CCDC37	3	126153218	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3588523	126153218	71869212	256	10951										
PLXNA1	5361	genome.wustl.edu	37	chr3	126708574	126708574	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccagtcctgctaccgtggtGagggcaagctctccctgccg	12	15	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:126708574G>A	ENST00000393409.2	+	1	1138	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E357K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	380	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.E357K(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACCGTGGTGAGGGCAAGCT	0.632																																																	1	Substitution - Missense(1)	lung(1)											82	76	78					3																	126708574		2203	4299	6502	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1138G>A	3.37:g.126708574G>A	ENSP00000377061:p.Glu380Lys			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E380K	ENST00000393409.2	37	c.1138	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159647	0.38119	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10763	2.84;2.84	4.0	4.0	0.46444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.069764	0.53938	D	0.000048	T	0.20659	0.0497	M	0.72576	2.205	0.40507	D	0.9807	P	0.39520	0.676	P	0.44772	0.46	T	0.05733	-1.0867	10	0.48119	T	0.1	.	16.2802	0.82672	0.0:0.0:1.0:0.0	.	380	Q9UIW2	PLXA1_HUMAN	K	380;357	ENSP00000377061:E380K;ENSP00000251772:E357K	ENSP00000251772:E357K	E	+	1	0	PLXNA1	128191264	1.000000	0.71417	0.893000	0.35052	0.137000	0.21094	6.293000	0.72731	2.078000	0.62432	0.491000	0.48974	GAG	PLXNA1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126708574	1	no_errors	ENST00000393409	ensembl	human	known	70_37	missense	SNP	0.959	A	A	126708574	G	A	126708574	3	1	74	1	0	0	0	0	1	0	0	0	12143	1291	45	1	1140	1	PLXNA1	3	126708574	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	555356	126708574	71313856	257	10952										
RPN1	6184	genome.wustl.edu	37	chr3	128339366	128339366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgagcttgccagccaccaggCgctcagcctccaccgccgac	10	19	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:128339366C>T	ENST00000296255.3	-	10	1760	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	RPN1_ENST00000497289.1_Missense_Mutation_p.R399H	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	571					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGCCACCAGGCGCTCAGCCTC	0.577			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													102	99	100					3																	128339366		2203	4300	6503	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1712G>A	3.37:g.128339366C>T	ENSP00000296255:p.Arg571His		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.R571H	ENST00000296255.3	37	c.1712	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.542720	0.96474	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.73598	2.24	0.80722	D	1	D	0.57571	0.98	P	0.50192	0.634	T	0.76961	-0.2765	9	0.72032	D	0.01	-14.7897	19.4282	0.94754	0.0:1.0:0.0:0.0	.	571	P04843	RPN1_HUMAN	H	571;399;342;545	.	ENSP00000296255:R571H	R	-	2	0	RPN1	129822056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.172000	0.77604	2.599000	0.87857	0.491000	0.48974	CGC	RPN1	-	NULL		0.577	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	C	NM_002950		128339366	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128339366	C	T	128339366	3	4	74	1	0	0	0	0	1	0	0	0	13637	768	27	2	115	2	RPN1	3	128339366	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1630792	128339366	69683064	258	10953										
CPNE4	131034	genome.wustl.edu	37	chr3	131293956	131293956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acccatgatgtagtccaagaAagaatgcatcttgtgaatct	8	8	2	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:131293956A>C	ENST00000512055.1	-	14	3012	c.886T>G	c.(886-888)Ttc>Gtc	p.F296V	CPNE4_ENST00000429747.1_Missense_Mutation_p.F296V|CPNE4_ENST00000502818.1_Missense_Mutation_p.F314V|CPNE4_ENST00000512332.1_Missense_Mutation_p.F314V|CPNE4_ENST00000511604.1_Missense_Mutation_p.F296V			Q96A23	CPNE4_HUMAN	copine IV	296						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TAGTCCAAGAAAGAATGCATC	0.418																																																	0													131	117	122					3																	131293956		2203	4300	6503	SO:0001583	missense	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.886T>G	3.37:g.131293956A>C	ENSP00000421705:p.Phe296Val		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.F314V	ENST00000512055.1	37	c.940	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302722	0.60195	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.67171	-0.22;-0.22;-0.25;-0.22;-0.25	5.73	5.73	0.89815	.	0.045928	0.85682	D	0.000000	T	0.79094	0.4388	H	0.96861	3.895	0.80722	D	1	B;B	0.23854	0.016;0.092	B;B	0.23852	0.009;0.049	T	0.80935	-0.1160	10	0.87932	D	0	-25.5422	15.2933	0.73882	1.0:0.0:0.0:0.0	.	314;296	Q96A23-2;Q96A23	.;CPNE4_HUMAN	V	296;296;314;296;314	ENSP00000421705:F296V;ENSP00000411904:F296V;ENSP00000424853:F314V;ENSP00000423811:F296V;ENSP00000421646:F314V	ENSP00000411904:F296V	F	-	1	0	CPNE4	132776646	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.086000	0.89520	2.308000	0.77769	0.533000	0.62120	TTC	CPNE4	-	NULL		0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	A	NM_130808		131293956	-1	no_errors	ENST00000502818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131293956	A	C	131293956	3	2	74	1	0	0	0	0	1	0	0	0	3819	14	1	5	815	5	CPNE4	3	131293956	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2954590	131293956	66728474	259	10954										
DNAJC13	23317	genome.wustl.edu	37	chr3	132224226	132224226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagcagaattacttgaattTcttgaatcccaacaagaaaa	6	7	1	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:132224226T>G	ENST00000260818.6	+	42	5213	c.4965T>G	c.(4963-4965)ttT>ttG	p.F1655L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1655					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TACTTGAATTTCTTGAATCCC	0.308																																																	0													46	47	47					3																	132224226		2202	4290	6492	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4965T>G	3.37:g.132224226T>G	ENSP00000260818:p.Phe1655Leu		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.F1655L	ENST00000260818.6	37	c.4965	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054319	0.55218	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.19105	2.17	6.16	6.16	0.99307	Armadillo-type fold (1);	0.055907	0.64402	D	0.000001	T	0.22044	0.0531	L	0.54965	1.715	0.40414	D	0.979771	B	0.20261	0.043	B	0.21360	0.034	T	0.04635	-1.0937	10	0.27082	T	0.32	.	12.584	0.56406	0.0:0.0658:0.0:0.9342	.	1655	O75165	DJC13_HUMAN	L	1655;302	ENSP00000260818:F1655L	ENSP00000260818:F1655L	F	+	3	2	DNAJC13	133706916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.924000	0.28777	2.367000	0.80283	0.528000	0.53228	TTT	DNAJC13	-	superfamily_ARM-type_fold		0.308	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	T	NM_015268		132224226	1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	G	G	132224226	T	G	132224226	3	3	74	1	0	0	0	0	1	0	0	0	4642	1780	62	5	5127	5	DNAJC13	3	132224226	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	930270	132224226	65798204	260	10955										
COMMD2	51122	genome.wustl.edu	37	chr3	149459430	149459430	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcagaactttggtgttgtGatctccattttgattaaggt	10	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:149459430G>A	ENST00000473414.1	-	5	532	c.478C>T	c.(478-480)Cac>Tac	p.H160Y		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	160	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTGGTGTTGTGATCTCCATTT	0.413																																																	0													247	254	252					3																	149459430		2203	4300	6503	SO:0001583	missense	51122			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.478C>T	3.37:g.149459430G>A	ENSP00000419475:p.His160Tyr		Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	pfam_HCaRG	p.H160Y	ENST00000473414.1	37	c.478	CCDS3145.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646013	0.29246	.	.	ENSG00000114744	ENST00000473414	T	0.09255	3.0	5.76	5.76	0.90799	COMM domain (1);	0.499843	0.23369	N	0.048922	T	0.13586	0.0329	L	0.36672	1.1	0.20403	N	0.999904	B	0.24920	0.114	B	0.27887	0.084	T	0.14727	-1.0462	10	0.56958	D	0.05	-9.6913	19.9813	0.97326	0.0:0.0:1.0:0.0	.	160	Q86X83	COMD2_HUMAN	Y	160	ENSP00000419475:H160Y	ENSP00000419475:H160Y	H	-	1	0	COMMD2	150942120	0.452000	0.25713	0.019000	0.16419	0.036000	0.12997	3.796000	0.55507	2.726000	0.93360	0.655000	0.94253	CAC	COMMD2	-	pfam_HCaRG		0.413	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD2	HGNC	protein_coding	OTTHUMT00000356515.1	G	NM_016094		149459430	-1	no_errors	ENST00000473414	ensembl	human	known	70_37	missense	SNP	0.168	A	A	149459430	G	A	149459430	3	1	74	1	0	0	0	0	1	0	0	0	3721	1290	45	1	125	1	COMMD2	3	149459430	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	17235204	149459430	48563000	261	10956										
FAM194A	131831	genome.wustl.edu	37	chr3	150404106	150404106	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttaacttagatgccagacAttcaggttcagctttctctt	6	10	4	2	rs201934751		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:150404106A>T	ENST00000295910.6	-	4	641	c.589T>A	c.(589-591)Tgt>Agt	p.C197S	FAM194A_ENST00000491361.1_Missense_Mutation_p.C51S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GATGCCAGACATTCAGGTTCA	0.398																																																	0								A	SER/CYS	0,4406		0,0,2203	149	145	146		589	0.6	0	3		146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM194A	NM_152394.3	112	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	197/664	150404106	1,13005	2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.589T>A	3.37:g.150404106A>T	ENSP00000295910:p.Cys197Ser			Missense_Mutation	SNP	NULL	p.C197S	ENST00000295910.6	37	c.589	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.203544	0.01581	0.0	1.16E-4	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.10860	3.0;2.83	3.41	0.625	0.17665	.	2.837000	0.01370	N	0.012524	T	0.04182	0.0116	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	10	0.08837	T	0.75	0.0111	6.3069	0.21143	0.4887:0.0:0.0:0.5113	.	197	Q7L0X2	F194A_HUMAN	S	197;51;155	ENSP00000295910:C197S;ENSP00000419366:C51S	ENSP00000295910:C197S	C	-	1	0	FAM194A	151886796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.430000	0.06973	0.109000	0.17891	0.402000	0.26972	TGT	FAM194A	-	NULL		0.398	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	A			150404106	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.000	T	T	150404106	A	T	150404106	3	4	74	1	0	0	0	0	1	0	0	0	5541	217	8	5	1446	5	FAM194A	3	150404106	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	944676	150404106	47618324	262	10957										
MED12L	116931	genome.wustl.edu	37	chr3	151130966	151130966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagcagagccctctggtgggCgggggaattgatgctgtgct	17	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:151130966C>T	ENST00000474524.1	+	40	6113	c.6075C>T	c.(6073-6075)ggC>ggT	p.G2025G	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2025	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTGGGCGGGGGAATTG	0.532																																																	0													78	74	76					3																	151130966		2203	4300	6503	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6075C>T	3.37:g.151130966C>T			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G2025	ENST00000474524.1	37	c.6075	CCDS33876.1	3																																																																																			MED12L	-	NULL		0.532	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151130966	1	no_errors	ENST00000474524	ensembl	human	known	70_37	silent	SNP	0.160	T	T	151130966	C	T	151130966	2	4	74	1	0	0	0	0	0	0	0	1	9452	755	27	2		2	MED12L	3	151130966	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	726860	151130966	46891464	263	10958										
MME	4311	genome.wustl.edu	37	chr3	154859901	154859901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaacttaagcccattcttaCcaaatattctgccaggtagg	6	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:154859901C>A	ENST00000460393.1	+	11	1199	c.1079C>A	c.(1078-1080)aCc>aAc	p.T360N	MME_ENST00000462745.1_Missense_Mutation_p.T360N|MME_ENST00000360490.2_Missense_Mutation_p.T360N|MME_ENST00000493237.1_Missense_Mutation_p.T360N|MME_ENST00000492661.1_Missense_Mutation_p.T360N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	360					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CCCATTCTTACCAAATATTCT	0.373																																																	0													170	174	173					3																	154859901		2203	4300	6503	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1079C>A	3.37:g.154859901C>A	ENSP00000418525:p.Thr360Asn		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T360N	ENST00000460393.1	37	c.1079	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	C	1.818	-0.472890	0.04445	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	6.02	4.23	0.50019	Peptidase M13 (1);	0.382752	0.32015	N	0.006710	T	0.50939	0.1645	N	0.03253	-0.375	0.26993	N	0.965106	B	0.02656	0.0	B	0.04013	0.001	T	0.45512	-0.9256	10	0.02654	T	1	-6.5169	5.475	0.16690	0.2103:0.5849:0.0:0.2049	.	360	P08473	NEP_HUMAN	N	360	ENSP00000420389:T360N;ENSP00000418525:T360N;ENSP00000419653:T360N;ENSP00000417079:T360N;ENSP00000353679:T360N	ENSP00000353679:T360N	T	+	2	0	MME	156342595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.152000	0.31663	1.562000	0.49601	0.591000	0.81541	ACC	MME	-	pfam_Peptidase_M13_N		0.373	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	C	NM_000902		154859901	1	no_errors	ENST00000360490	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154859901	C	A	154859901	3	1	74	1	0	0	0	0	1	0	0	0	9668	507	18	4	1117	4	MME	3	154859901	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3728935	154859901	43162529	264	10959										
NMD3	51068	genome.wustl.edu	37	chr3	160968681	160968681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgccactggtgaagaaggtGcatcaatgctgacataatga	11	7	1	4	rs201322317		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:160968681G>A	ENST00000460469.1	+	15	1950	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Missense_Mutation_p.A499T			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	499	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGAAGAAGGTGCATCAATGCT	0.438																																																	0													173	147	156					3																	160968681		2203	4300	6503	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1495G>A	3.37:g.160968681G>A	ENSP00000419004:p.Ala499Thr		D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.A499T	ENST00000460469.1	37	c.1495	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061481	0.55432	.	.	ENSG00000169251	ENST00000351193;ENST00000460469;ENST00000540137	T;T	0.23950	1.88;1.88	4.88	4.01	0.46588	.	0.216529	0.48286	D	0.000199	T	0.43612	0.1255	L	0.57536	1.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.73708	0.981	T	0.19679	-1.0298	10	0.29301	T	0.29	.	12.774	0.57437	0.0803:0.0:0.9197:0.0	.	499	Q96D46	NMD3_HUMAN	T	499;499;379	ENSP00000307525:A499T;ENSP00000419004:A499T	ENSP00000307525:A499T	A	+	1	0	NMD3	162451375	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	5.852000	0.69488	1.195000	0.43115	-0.244000	0.11960	GCA	NMD3	-	NULL		0.438	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	G	NM_015938		160968681	1	no_errors	ENST00000351193	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160968681	G	A	160968681	3	1	74	1	0	0	0	0	1	0	0	0	10512	1319	46	4	1553	4	NMD3	3	160968681	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6108780	160968681	37053749	265	10960										
BCHE	590	genome.wustl.edu	37	chr3	165547700	165547700	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttcctgaaattcttttctAgttatgatactattgttatc	4	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:165547700A>C	ENST00000264381.3	-	2	1288	c.1122T>G	c.(1120-1122)acT>acG	p.T374T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	374					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ATTCTTTTCTAGTTATGATAC	0.358																																																	0													27	30	29					3																	165547700		2200	4288	6488	SO:0001819	synonymous_variant	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1122T>G	3.37:g.165547700A>C			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.T374	ENST00000264381.3	37	c.1122	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB		0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	A			165547700	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	silent	SNP	0.000	C	C	165547700	A	C	165547700	2	2	74	1	0	0	0	0	0	0	0	1	1359	407	15	5		5	BCHE	3	165547700	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	4579019	165547700	32474730	266	10961										
PDCD10	11235	genome.wustl.edu	37	chr3	167405449	167405449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaagacattattcactgtaTcaagaagttcttttattgca	6	6	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:167405449T>C	ENST00000392750.2	-	7	845	c.428A>G	c.(427-429)gAt>gGt	p.D143G	PDCD10_ENST00000492396.1_Missense_Mutation_p.D80G|PDCD10_ENST00000487947.2_Missense_Mutation_p.D143G|PDCD10_ENST00000470131.1_Missense_Mutation_p.D143G|PDCD10_ENST00000471885.1_Missense_Mutation_p.D143G|PDCD10_ENST00000473645.2_Missense_Mutation_p.D143G|PDCD10_ENST00000461494.1_Missense_Mutation_p.D143G|PDCD10_ENST00000497056.2_Missense_Mutation_p.D143G	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	143					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ATTCACTGTATCAAGAAGTTC	0.363																																																	0													104	98	100					3																	167405449		2203	4299	6502	SO:0001583	missense	11235			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"cerebral cavernous malformations 3"	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.428A>G	3.37:g.167405449T>C	ENSP00000376506:p.Asp143Gly		A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.D143G	ENST00000392750.2	37	c.428	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999968	0.74818	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725	T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	M	0.75615	2.305	0.80722	D	1	B	0.20988	0.05	B	0.29598	0.104	T	0.52779	-0.8530	10	0.46703	T	0.11	-15.1227	15.9488	0.79817	0.0:0.0:0.0:1.0	.	143	Q9BUL8	PDC10_HUMAN	G	143;143;143;80;143;143;143;143;143;143	ENSP00000376506:D143G;ENSP00000418317:D143G;ENSP00000420553:D143G;ENSP00000417309:D80G;ENSP00000420021:D143G;ENSP00000417202:D143G;ENSP00000417118:D143G;ENSP00000420266:D143G;ENSP00000417876:D143G;ENSP00000420424:D143G	ENSP00000376506:D143G	D	-	2	0	PDCD10	168888143	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.157000	0.67596	0.482000	0.46254	GAT	PDCD10	-	pfam_DUF1241		0.363	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	T	NM_007217		167405449	-1	no_errors	ENST00000392750	ensembl	human	known	70_37	missense	SNP	1.000	C	C	167405449	T	C	167405449	3	2	74	1	0	0	0	0	1	0	0	0	11640	1435	50	5	222	5	PDCD10	3	167405449	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1857749	167405449	30616981	267	10962										
PLD1	5337	genome.wustl.edu	37	chr3	171394595	171394595	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcaatgtcatgccagggcatCcggggcgtggagtacctgtc	15	11	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:171394595C>G	ENST00000351298.4	-	18	2151	c.2025G>C	c.(2023-2025)cgG>cgC	p.R675R	PLD1_ENST00000342215.6_Missense_Mutation_p.G566A|PLD1_ENST00000356327.5_Silent_p.R637R|PLD1_ENST00000340989.4_Silent_p.R675R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	675	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.R675R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCCAGGGCATCCGGGGCGTGG	0.542																																					NSCLC(149;2174 3517 34058)												1	Substitution - coding silent(1)	lung(1)											69	60	63					3																	171394595		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2025G>C	3.37:g.171394595C>G				Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.G566A	ENST00000351298.4	37	c.1697	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746976	0.49257	.	.	ENSG00000075651	ENST00000342215	T	0.34859	1.34	5.81	1.79	0.24919	.	.	.	.	.	T	0.14141	0.0342	.	.	.	0.25709	N	0.98551	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.07325	T	0.83	-17.873	6.9399	0.24486	0.0:0.5689:0.2366:0.1945	.	.	.	.	A	566	ENSP00000339936:G566A	ENSP00000339936:G566A	G	-	2	0	PLD1	172877289	0.990000	0.36364	1.000000	0.80357	0.985000	0.73830	0.261000	0.18442	0.780000	0.33566	0.557000	0.71058	GGA	PLD1	-	NULL		0.542	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	C	NM_002662		171394595	-1	no_errors	ENST00000342215	ensembl	human	known	70_37	missense	SNP	0.998	G	G	171394595	C	G	171394595	2	3	74	1	0	0	0	0	0	0	0	1	12069	842	30	1		1	PLD1	3	171394595	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3989146	171394595	26627835	268	10963										
SOX2	6657	genome.wustl.edu	37	chr3	181430346	181430346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcccaggagaaccccaagatGcacaactcggagatcagcaa	10	13	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:181430346G>A	ENST00000325404.1	+	1	625	c.198G>A	c.(196-198)atG>atA	p.M66I	SOX2_ENST00000431565.2_Missense_Mutation_p.M66I	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	66					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACCCCAAGATGCACAACTCGG	0.632			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													46	48	47					3																	181430346		2203	4300	6503	SO:0001583	missense	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.198G>A	3.37:g.181430346G>A	ENSP00000323588:p.Met66Ile		Q14537	Missense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.M66I	ENST00000325404.1	37	c.198	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811292	0.70797	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.97710	-4.5;-4.5	4.73	4.73	0.59995	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.134389	0.64402	D	0.000004	D	0.97025	0.9028	L	0.58810	1.83	0.80722	D	1	P	0.52692	0.955	P	0.47299	0.543	D	0.97802	1.0245	10	0.87932	D	0	.	17.0661	0.86559	0.0:0.0:1.0:0.0	.	66	P48431	SOX2_HUMAN	I	66	ENSP00000439111:M66I;ENSP00000323588:M66I	ENSP00000323588:M66I	M	+	3	0	SOX2	182913040	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.681000	0.98653	2.336000	0.79503	0.561000	0.74099	ATG	SOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.632	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	G	NM_003106		181430346	1	no_errors	ENST00000325404	ensembl	human	known	70_37	missense	SNP	1.000	A	A	181430346	G	A	181430346	3	1	74	1	0	0	0	0	1	0	0	0	14979	1319	46	4	200	4	SOX2	3	181430346	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10035751	181430346	16592084	269	10964										
ECE2	9718	genome.wustl.edu	37	chr3	184009181	184009181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaggagcagcaactgccagCcgtggggctcaccaaccacc	13	15	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:184009181C>T	ENST00000402825.3	+	18	2429	c.2429C>T	c.(2428-2430)gCc>gTc	p.A810V	ECE2_ENST00000359140.4_Missense_Mutation_p.A663V|ECE2_ENST00000357474.5_Missense_Mutation_p.A738V|ECE2_ENST00000404464.3_Missense_Mutation_p.A692V|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	810	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAACTGCCAGCCGTGGGGCTC	0.617																																																	0													85	85	85					3																	184009181		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2429C>T	3.37:g.184009181C>T	ENSP00000384223:p.Ala810Val		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.A810V	ENST00000402825.3	37	c.2429	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272233	0.80580	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.19	5.19	0.71726	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.062834	0.64402	D	0.000008	D	0.87446	0.6179	N	0.20328	0.56	0.54753	D	0.999986	P;B;P;P;P	0.51933	0.481;0.036;0.917;0.747;0.949	P;B;P;P;P	0.52066	0.515;0.012;0.557;0.46;0.689	D	0.86981	0.2104	10	0.40728	T	0.16	-17.6044	12.0429	0.53462	0.0:0.8261:0.1739:0.0	.	412;692;738;663;810	B4DHU4;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;ECE2_HUMAN	V	810;663;692;738;684	ENSP00000384223:A810V;ENSP00000352052:A663V;ENSP00000385846:A692V;ENSP00000350066:A738V;ENSP00000398444:A684V	ENSP00000350066:A738V	A	+	2	0	ECE2	185491875	1.000000	0.71417	0.834000	0.33040	0.982000	0.71751	4.835000	0.62781	2.421000	0.82119	0.561000	0.74099	GCC	ECE2	-	pfam_Peptidase_M13_C		0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	C	NM_014693		184009181	1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	0.993	T	T	184009181	C	T	184009181	3	4	74	1	0	0	0	0	1	0	0	0	4900	739	26	4	3063	4	ECE2	3	184009181	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2578835	184009181	14013249	270	10965										
CLCN2	1181	genome.wustl.edu	37	chr3	184071119	184071119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgggtggctctgcgctcctgCatgtgctgccgccggcgggc	17	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:184071119C>T	ENST00000265593.4	-	17	2118	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	CLCN2_ENST00000344937.7_Missense_Mutation_p.M632I|CLCN2_ENST00000457512.1_Missense_Mutation_p.M649I|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.M605I|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	649					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGCGCTCCTGCATGTGCTGCC	0.622																																																	0													52	56	54					3																	184071119		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1947G>A	3.37:g.184071119C>T	ENSP00000265593:p.Met649Ile		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.M649I	ENST00000265593.4	37	c.1947	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	12.34	1.908160	0.33721	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.84223	-1.77;-1.71;-1.82;-1.81	5.62	2.86	0.33363	.	0.586626	0.19090	N	0.122993	T	0.73329	0.3573	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.64478	-0.6398	10	0.38643	T	0.18	-6.8933	5.3926	0.16251	0.1414:0.6353:0.0:0.2233	.	605;649;632;649;605	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	I	649;632;605;649	ENSP00000265593:M649I;ENSP00000345056:M632I;ENSP00000400425:M605I;ENSP00000391928:M649I	ENSP00000265593:M649I	M	-	3	0	CLCN2	185553813	0.995000	0.38212	0.145000	0.22337	0.250000	0.25880	0.459000	0.21908	0.738000	0.32606	0.563000	0.77884	ATG	CLCN2	-	NULL		0.622	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	C			184071119	-1	no_errors	ENST00000265593	ensembl	human	known	70_37	missense	SNP	0.990	T	T	184071119	C	T	184071119	3	4	74	1	0	0	0	0	1	0	0	0	3468	710	25	4	781	4	CLCN2	3	184071119	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	61938	184071119	13951311	271	10966										
EPHB3	2049	genome.wustl.edu	37	chr3	184294913	184294913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggcggtcaacggtgtctcGggcaagagccctctgccgcc	14	15	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:184294913G>A	ENST00000330394.2	+	5	1748	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGGTGTCTCGGGCAAGAGCC	0.642																																																	0													42	39	40					3																	184294913		2203	4300	6503	SO:0001819	synonymous_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1296G>A	3.37:g.184294913G>A			Q7Z740	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S432	ENST00000330394.2	37	c.1296	CCDS3268.1	3																																																																																			EPHB3	-	pfam_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.642	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184294913	1	no_errors	ENST00000330394	ensembl	human	known	70_37	silent	SNP	0.964	A	A	184294913	G	A	184294913	2	1	74	1	0	0	0	0	0	0	0	1	5188	1103	39	2		2	EPHB3	3	184294913	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	223794	184294913	13727517	272	10967										
IGF2BP2	10644	genome.wustl.edu	37	chr3	185407163	185407163	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgggactgggtctgcttagtGatgttctttatggtcaagcc	13	8	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:185407163G>A	ENST00000382199.2	-	6	752	c.657C>T	c.(655-657)atC>atT	p.I219I	IGF2BP2_ENST00000457616.2_Silent_p.I225I|IGF2BP2_ENST00000421047.2_Silent_p.I162I|IGF2BP2_ENST00000346192.3_Silent_p.I219I|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	219	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCTGCTTAGTGATGTTCTTTA	0.572																																																	0													91	87	88					3																	185407163		2203	4300	6503	SO:0001819	synonymous_variant	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.657C>T	3.37:g.185407163G>A			A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.I219	ENST00000382199.2	37	c.657	CCDS3273.2	3																																																																																			IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.572	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	G	NM_006548		185407163	-1	no_errors	ENST00000382199	ensembl	human	known	70_37	silent	SNP	1.000	A	A	185407163	G	A	185407163	2	1	74	1	0	0	0	0	0	0	0	1	7594	1280	45	1		1	IGF2BP2	3	185407163	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1112250	185407163	12615267	273	10968										
RTP1	132112	genome.wustl.edu	37	chr3	186917516	186917516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcatgctggaggagaacatCgagggcctggtggacaacct	15	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:186917516C>T	ENST00000312295.4	+	2	480	c.450C>T	c.(448-450)atC>atT	p.I150I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	150					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGAGAACATCGAGGGCCTGG	0.682																																																	0													26	26	26					3																	186917516		2203	4294	6497	SO:0001819	synonymous_variant	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.450C>T	3.37:g.186917516C>T				Silent	SNP	NULL	p.I150	ENST00000312295.4	37	c.450	CCDS3287.2	3																																																																																			RTP1	-	NULL		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP1	HGNC	protein_coding	OTTHUMT00000313731.2	C	NM_153708		186917516	1	no_errors	ENST00000312295	ensembl	human	known	70_37	silent	SNP	1.000	T	T	186917516	C	T	186917516	2	4	74	1	0	0	0	0	0	0	0	1	13763	874	31	1		1	RTP1	3	186917516	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1510353	186917516	11104914	274	10969										
UTS2D	257313	genome.wustl.edu	37	chr3	190995868	190995868	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgtttaactcaccagtgttGaaaggtctttggaaatcaaa	8	6	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:190995868G>A	ENST00000340524.5	-	6	981	c.195C>T	c.(193-195)ttC>ttT	p.F65F	UTS2B_ENST00000427544.2_Silent_p.F65F	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	65					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											CACCAGTGTTGAAAGGTCTTT	0.254																																																	0													53	55	54					3																	190995868		2202	4292	6494	SO:0001819	synonymous_variant	257313			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"Endogenous ligands"	30894	protein-coding gene	gene with protein product	"prepro-URP"		"urotensin 2 domain containing"	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.195C>T	3.37:g.190995868G>A			B3KQY8|D3DNW1|Q2M1Z2	Silent	SNP	NULL	p.F65	ENST00000340524.5	37	c.195	CCDS3300.1	3																																																																																			UTS2D	-	NULL		0.254	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2D	HGNC	protein_coding	OTTHUMT00000343353.1	G	NM_198152		190995868	-1	no_errors	ENST00000446788	ensembl	human	known	70_37	silent	SNP	0.000	A	A	190995868	G	A	190995868	2	1	74	1	0	0	0	0	0	0	0	1	17136	1281	45	1		1	UTS2D	3	190995868	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4078352	190995868	7026562	275	10970										
TCTEX1D2	255758	genome.wustl.edu	37	chr3	196042995	196042995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atttatctttaatgttttctGataaatgttttgtaagctga	6	3	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:196042995G>A	ENST00000325318.5	-	2	356	c.221C>T	c.(220-222)tCa>tTa	p.S74L	RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S74L|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	74										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AATGTTTTCTGATAAATGTTT	0.393																																																	0													119	110	113					3																	196042995		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.221C>T	3.37:g.196042995G>A	ENSP00000324323:p.Ser74Leu		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S74L	ENST00000325318.5	37	c.221	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443109	0.83993	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.28666	1.6	5.56	4.69	0.59074	.	0.120685	0.33753	U	0.004588	T	0.51109	0.1655	M	0.87682	2.9	0.80722	D	1	P	0.47253	0.892	P	0.52031	0.688	T	0.59434	-0.7455	10	0.72032	D	0.01	0.0105	12.076	0.53644	0.0834:0.0:0.9166:0.0	.	74	Q8WW35	TC1D2_HUMAN	L	74	ENSP00000324323:S74L	ENSP00000324323:S74L	S	-	2	0	TCTEX1D2	197527392	1.000000	0.71417	0.908000	0.35775	0.969000	0.65631	6.379000	0.73154	1.338000	0.45544	0.561000	0.74099	TCA	TCTEX1D2	-	pfam_Tctex		0.393	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196042995	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196042995	G	A	196042995	3	1	74	1	0	0	0	0	1	0	0	0	15750	1294	45	1	223	1	TCTEX1D2	3	196042995	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5047127	196042995	1979435	276	10971										
TCTEX1D2	255758	genome.wustl.edu	37	chr3	196043091	196043091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggatacagtctttaaccacaGagggcctgaacctgaatgga	11	9	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:196043091G>A	ENST00000325318.5	-	2	260	c.125C>T	c.(124-126)tCt>tTt	p.S42F	RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S42F|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	42										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTTAACCACAGAGGGCCTGAA	0.438																																																	0													86	78	80					3																	196043091		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.125C>T	3.37:g.196043091G>A	ENSP00000324323:p.Ser42Phe		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S42F	ENST00000325318.5	37	c.125	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213497	0.39102	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.25579	1.79	5.14	5.14	0.70334	.	0.246912	0.25732	U	0.028673	T	0.50051	0.1593	M	0.77313	2.365	0.80722	D	1	D	0.54964	0.969	P	0.61477	0.889	T	0.52540	-0.8562	10	0.54805	T	0.06	-1.1718	16.126	0.81395	0.0:0.0:1.0:0.0	.	42	Q8WW35	TC1D2_HUMAN	F	42	ENSP00000324323:S42F	ENSP00000324323:S42F	S	-	2	0	TCTEX1D2	197527488	0.988000	0.35896	0.994000	0.49952	0.034000	0.12701	4.571000	0.60879	2.368000	0.80403	0.561000	0.74099	TCT	TCTEX1D2	-	NULL		0.438	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196043091	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	0.987	A	A	196043091	G	A	196043091	3	1	74	1	0	0	0	0	1	0	0	0	15750	942	33	1	319	1	TCTEX1D2	3	196043091	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	96	196043091	1979339	277	10972										
LRRC33	375387	genome.wustl.edu	37	chr3	196386861	196386861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctggtcctgggggacaactGcctctcagagaactacgaag	12	12	1	1	rs371259559		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:196386861G>A	ENST00000328557.4	+	3	550	c.347G>A	c.(346-348)tGc>tAc	p.C116Y		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	116					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGGGACAACTGCCTCTCAGAG	0.672																																																	0													30	31	31					3																	196386861		2203	4300	6503	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.347G>A	3.37:g.196386861G>A	ENSP00000328625:p.Cys116Tyr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C116Y	ENST00000328557.4	37	c.347	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	G	1.433	-0.569752	0.03910	.	.	ENSG00000174004	ENST00000328557	T	0.00912	5.55	6.07	-3.18	0.05186	.	1.909380	0.01780	N	0.031717	T	0.00724	0.0024	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.48843	-0.8999	10	0.52906	T	0.07	.	6.3545	0.21395	0.1542:0.4997:0.2547:0.0913	.	116	Q86YC3	LRC33_HUMAN	Y	116	ENSP00000328625:C116Y	ENSP00000328625:C116Y	C	+	2	0	LRRC33	197871258	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.239000	0.18023	-0.481000	0.06792	-1.437000	0.01076	TGC	LRRC33	-	NULL		0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC33	HGNC	protein_coding	OTTHUMT00000340676.1	G	NM_198565		196386861	1	no_errors	ENST00000328557	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196386861	G	A	196386861	3	1	74	1	0	0	0	0	1	0	0	0	9011	1319	46	4	353	4	LRRC33	3	196386861	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	343770	196386861	1635569	278	10973										
FGFRL1	53834	genome.wustl.edu	37	chr4	1019054	1019055	+	Frame_Shift_Ins	INS	-	-	CA													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaaactctacacagacatcINScacacacacacacacacaca					rs571486674|rs145808953		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:1019054_1019055insCA	ENST00000398484.2	+	8	2014_2015	c.1434_1435insCA	c.(1435-1437)cacfs	p.H479fs	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Ins_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Ins_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Ins_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacagacatccacacacacac	0.584																																																	0																																										SO:0001589	frameshift_variant	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1453_1454dupCA	4.37:g.1019063_1019064dupCA	ENSP00000381498:p.His479fs		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T482fs	ENST00000398484.2	37	c.1434_1435	CCDS3344.1	4																																																																																			FGFRL1	-	NULL		0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	-	NM_021923		1019055	1	no_errors	ENST00000264748	ensembl	human	known	70_37	frame_shift_ins	INS	0.994:1.000	CA	CA	1019055	-	CA	1019054	7	5	74	1	0	1	1	0	0	0	0	0	5887	845	30	0	1456	0	FGFRL1	4	1019054	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09		1019054	190135222	279	10974										
SH3BP2	6452	genome.wustl.edu	37	chr4	2831361	2831361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acccccgccccctaagcacgGcctcccagatgttggcctgg	10	19	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:2831361G>A	ENST00000356331.5	+	8	989	c.728G>A	c.(727-729)gGc>gAc	p.G243D	SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G243D|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G300D|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G243D|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G243D|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G271D	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	243					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCTAAGCACGGCCTCCCAGAT	0.692									Cherubism																																								0													35	41	39					4																	2831361		2203	4300	6503	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.728G>A	4.37:g.2831361G>A	ENSP00000348685:p.Gly243Asp		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.G300D	ENST00000356331.5	37	c.899	CCDS33944.1	4	.	.	.	.	.	.	.	.	.	.	g	16.72	3.202401	0.58234	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67;-3.67	5.33	3.57	0.40892	.	0.698988	0.14454	N	0.318565	D	0.95522	0.8545	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.896;0.999;1.0;0.999;0.999	D	0.92226	0.5788	10	0.13853	T	0.58	-16.5706	9.5716	0.39431	0.0764:0.0:0.7838:0.1399	.	271;218;218;300;243	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	D	243;271;243;243;300;243	ENSP00000409746:G243D;ENSP00000388152:G271D;ENSP00000403231:G243D;ENSP00000424846:G243D;ENSP00000422168:G300D;ENSP00000348685:G243D	ENSP00000348685:G243D	G	+	2	0	SH3BP2	2801159	0.993000	0.37304	0.335000	0.25508	0.533000	0.34776	2.406000	0.44557	1.242000	0.43836	0.651000	0.88453	GGC	SH3BP2	-	NULL		0.692	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SH3BP2	HGNC	protein_coding	OTTHUMT00000362406.2	G	NM_003023		2831361	1	no_errors	ENST00000503393	ensembl	human	known	70_37	missense	SNP	0.870	A	A	2831361	G	A	2831361	3	1	74	1	0	0	0	0	1	0	0	0	14275	1203	42	4	1013	4	SH3BP2	4	2831361	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1812307	2831361	188322915	280	10975										
CRMP1	1400	genome.wustl.edu	37	chr4	5830265	5830265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgctccgggaacgccttcCgcggaatgaagcggcccatg	15	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:5830265C>T	ENST00000397890.2	-	12	1626	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q	CRMP1_ENST00000512574.1_Missense_Mutation_p.R469Q|EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R585Q	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	471					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GAACGCCTTCCGCGGAATGAA	0.602																																																	0													133	99	110					4																	5830265		2203	4300	6503	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1412G>A	4.37:g.5830265C>T	ENSP00000380987:p.Arg471Gln		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R585Q	ENST00000397890.2	37	c.1754	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898880	0.72754	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.80033	-1.33;-1.33;-1.33	4.33	4.33	0.51752	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.89942	0.6861	M	0.83483	2.645	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.994;1.0;1.0	D;P;D;D	0.97110	0.988;0.61;0.983;1.0	D	0.91415	0.5154	10	0.62326	D	0.03	-31.303	15.9993	0.80280	0.0:1.0:0.0:0.0	.	585;469;471;408	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	Q	585;471;471;469	ENSP00000321606:R585Q;ENSP00000380987:R471Q;ENSP00000425742:R469Q	ENSP00000321606:R585Q	R	-	2	0	CRMP1	5881166	1.000000	0.71417	0.971000	0.41717	0.166000	0.22503	7.287000	0.78681	2.245000	0.73994	0.561000	0.74099	CGG	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.602	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	C	NM_001313		5830265	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5830265	C	T	5830265	3	4	74	1	0	0	0	0	1	0	0	0	3895	652	23	2	318	2	CRMP1	4	5830265	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2998904	5830265	185324011	281	10976										
TADA2B	93624	genome.wustl.edu	37	chr4	7056023	7056023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcagctgggctacatgccgCtgcgggatgattacgagatc	14	10	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:7056023C>A	ENST00000310074.7	+	2	694	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	TADA2B_ENST00000515646.1_Missense_Mutation_p.L77M|TADA2B_ENST00000512388.1_Missense_Mutation_p.L94M	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	169					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CTACATGCCGCTGCGGGATGA	0.622																																																	0													23	25	24					4																	7056023		2058	4176	6234	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.505C>A	4.37:g.7056023C>A	ENSP00000308022:p.Leu169Met		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.L169M	ENST00000310074.7	37	c.505	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835641	0.71373	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.47869	0.83;0.91;0.91;0.91;0.91	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.64877	0.93;0.854	T	0.61662	-0.7017	10	0.33141	T	0.24	-29.4544	18.9307	0.92564	0.0:1.0:0.0:0.0	.	94;169	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	M	77;169;94;77;77	ENSP00000422398:L77M;ENSP00000308022:L169M;ENSP00000423947:L94M;ENSP00000423181:L77M;ENSP00000425731:L77M	ENSP00000308022:L169M	L	+	1	2	TADA2B	7106924	1.000000	0.71417	0.974000	0.42286	0.796000	0.44982	7.401000	0.79962	2.481000	0.83766	0.561000	0.74099	CTG	TADA2B	-	pirsf_Transcriptional_adaptor_2		0.622	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	C	NM_152293		7056023	1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7056023	C	A	7056023	3	1	74	1	0	0	0	0	1	0	0	0	15541	796	28	4	511	4	TADA2B	4	7056023	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1225758	7056023	184098253	282	10977										
ACOX3	8310	genome.wustl.edu	37	chr4	8417621	8417621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaagtcatactcgaagatccGcttgcatcgaaggaagttca	10	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:8417621G>A	ENST00000356406.5	-	3	327	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	ACOX3_ENST00000503233.1_Missense_Mutation_p.R84W|ACOX3_ENST00000413009.2_Missense_Mutation_p.R84W	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	84					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCGAAGATCCGCTTGCATCGA	0.517																																																	0													89	81	84					4																	8417621		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.250C>T	4.37:g.8417621G>A	ENSP00000348775:p.Arg84Trp		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.R84W	ENST00000356406.5	37	c.250	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441188	0.63067	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.50277	0.75;0.75;0.75	5.39	0.782	0.18567	Acyl-CoA dehydrogenase/oxidase (1);	0.290302	0.32785	N	0.005641	T	0.67720	0.2923	M	0.83483	2.645	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76071	0.986;0.987	T	0.63659	-0.6587	10	0.51188	T	0.08	-29.9118	14.1275	0.65230	0.0:0.0:0.23:0.77	.	84;84	O15254-2;O15254	.;ACOX3_HUMAN	W	84	ENSP00000413994:R84W;ENSP00000348775:R84W;ENSP00000421625:R84W	ENSP00000348775:R84W	R	-	1	2	ACOX3	8468521	0.997000	0.39634	0.001000	0.08648	0.155000	0.21991	2.098000	0.41757	0.187000	0.20147	0.650000	0.86243	CGG	ACOX3	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	G			8417621	-1	no_errors	ENST00000356406	ensembl	human	known	70_37	missense	SNP	0.001	A	A	8417621	G	A	8417621	3	1	74	1	0	0	0	0	1	0	0	0	160	1086	38	2	1916	2	ACOX3	4	8417621	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1361598	8417621	182736655	283	10978										
BOD1L	259282	genome.wustl.edu	37	chr4	13610966	13610966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttttctgctttctgttttCgtttttcttcaagtttttct	4	8	6	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:13610966C>T	ENST00000040738.5	-	7	1691	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	519	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCTGTTTTCGTTTTTCTTC	0.299																																																	0													122	110	114					4																	13610966		2198	4292	6490	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1556G>A	4.37:g.13610966C>T	ENSP00000040738:p.Arg519Gln		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R519Q	ENST00000040738.5	37	c.1556	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424095	0.83667	.	.	ENSG00000038219	ENST00000040738	T	0.18502	2.21	5.58	5.58	0.84498	.	0.000000	0.34725	N	0.003727	T	0.37865	0.1019	L	0.60455	1.87	0.29098	N	0.881664	D	0.89917	1.0	D	0.80764	0.994	T	0.09596	-1.0667	10	0.30854	T	0.27	-0.3539	16.6447	0.85173	0.0:1.0:0.0:0.0	.	519	Q8NFC6	BOD1L_HUMAN	Q	519	ENSP00000040738:R519Q	ENSP00000040738:R519Q	R	-	2	0	BOD1L	13220064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.405000	0.52630	2.785000	0.95823	0.655000	0.94253	CGA	BOD1L1	-	NULL		0.299	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13610966	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13610966	C	T	13610966	3	4	74	1	0	0	0	0	1	0	0	0	1484	884	31	1	7679	1	BOD1L	4	13610966	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5193345	13610966	177543310	284	10979										
BOD1L	259282	genome.wustl.edu	37	chr4	13616125	13616125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctcttttgtgtaatttttaAtttcttcgactggacagggg	10	6	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:13616125A>C	ENST00000040738.5	-	4	1004	c.869T>G	c.(868-870)aTt>aGt	p.I290S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	290						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTAATTTTTAATTTCTTCGAC	0.383																																																	0													78	76	77					4																	13616125		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.869T>G	4.37:g.13616125A>C	ENSP00000040738:p.Ile290Ser		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.I290S	ENST00000040738.5	37	c.869	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	A	9.100	1.003881	0.19199	.	.	ENSG00000038219	ENST00000040738	T	0.07688	3.17	5.45	-0.234	0.13074	.	0.804611	0.10744	N	0.639085	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	B	0.26195	0.144	B	0.19148	0.024	T	0.46048	-0.9219	10	0.07813	T	0.8	-1.9405	5.2084	0.15302	0.497:0.2583:0.2448:0.0	.	290	Q8NFC6	BOD1L_HUMAN	S	290	ENSP00000040738:I290S	ENSP00000040738:I290S	I	-	2	0	BOD1L	13225223	0.368000	0.25031	0.797000	0.32132	0.410000	0.31052	1.327000	0.33746	-0.180000	0.10637	-0.326000	0.08463	ATT	BOD1L1	-	NULL		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	A	NM_148894		13616125	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.031	C	C	13616125	A	C	13616125	3	2	74	1	0	0	0	0	1	0	0	0	1484	101	4	5	8378	5	BOD1L	4	13616125	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	5159	13616125	177538151	285	10980										
FGFBP2	83888	genome.wustl.edu	37	chr4	15964094	15964094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcacctgtcaccctcggaagAagctgatgagaaaggcgcac	11	12	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:15964094A>G	ENST00000259989.6	-	1	765	c.659T>C	c.(658-660)tTc>tCc	p.F220S	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	220						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTCGGAAGAAGCTGATGAG	0.498																																																	0													54	54	54					4																	15964094		2203	4300	6503	SO:0001583	missense	83888			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.659T>C	4.37:g.15964094A>G	ENSP00000259989:p.Phe220Ser			Missense_Mutation	SNP	pfam_FGF1-bd	p.F220S	ENST00000259989.6	37	c.659	CCDS3419.1	4	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654568	0.29425	.	.	ENSG00000137441	ENST00000259989	T	0.19105	2.17	2.73	2.73	0.32206	.	0.525610	0.18393	U	0.142584	T	0.18425	0.0442	N	0.19112	0.55	0.25881	N	0.983583	P	0.49559	0.925	P	0.49451	0.611	T	0.04509	-1.0946	10	0.66056	D	0.02	-2.7322	9.2142	0.37337	1.0:0.0:0.0:0.0	.	220	Q9BYJ0	FGFP2_HUMAN	S	220	ENSP00000259989:F220S	ENSP00000259989:F220S	F	-	2	0	FGFBP2	15573192	0.998000	0.40836	0.035000	0.18076	0.179000	0.23085	2.144000	0.42197	0.857000	0.35407	0.533000	0.62120	TTC	FGFBP2	-	pfam_FGF1-bd		0.498	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP2	HGNC	protein_coding	OTTHUMT00000250324.1	A	NM_031950		15964094	-1	no_errors	ENST00000259989	ensembl	human	known	70_37	missense	SNP	0.890	G	G	15964094	A	G	15964094	3	3	74	1	0	0	0	0	1	0	0	0	5879	246	9	5	16	5	FGFBP2	4	15964094	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2347969	15964094	175190182	286	10981										
SLIT2	9353	genome.wustl.edu	37	chr4	20597356	20597356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggtacgtaggtgaacactgCgacatcgattttgacgactg	13	8	0	2	rs372434910		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:20597356C>T	ENST00000504154.1	+	31	3471	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C	SLIT2_ENST00000503823.1_Silent_p.C1065C|SLIT2_ENST00000503837.1_Silent_p.C1069C|SLIT2_ENST00000273739.5_Silent_p.C1086C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1073	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGAACACTGCGACATCGATT	0.463																																																	0								T		0,4406		0,0,2203	220	203	209		3219	-1.4	1	4		209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT2	NM_004787.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1073/1530	20597356	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3219C>T	4.37:g.20597356C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1073	ENST00000504154.1	37	c.3219	CCDS3426.1	4																																																																																			SLIT2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.463	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20597356	1	no_errors	ENST00000504154	ensembl	human	known	70_37	silent	SNP	0.965	T	T	20597356	C	T	20597356	2	4	74	1	0	0	0	0	0	0	0	1	14770	776	27	2		2	SLIT2	4	20597356	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4633262	20597356	170556920	287	10982										
SLIT2	9353	genome.wustl.edu	37	chr4	20597410	20597410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtaaaaacggagcccactgCacagatgcagtgaacggcta	11	10	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:20597410C>T	ENST00000504154.1	+	31	3525	c.3273C>T	c.(3271-3273)tgC>tgT	p.C1091C	SLIT2_ENST00000503823.1_Silent_p.C1083C|SLIT2_ENST00000503837.1_Silent_p.C1087C|SLIT2_ENST00000273739.5_Silent_p.C1104C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1091	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGCCCACTGCACAGATGCAG	0.473																																																	0													169	156	160					4																	20597410		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3273C>T	4.37:g.20597410C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1091	ENST00000504154.1	37	c.3273	CCDS3426.1	4																																																																																			SLIT2	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20597410	1	no_errors	ENST00000504154	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20597410	C	T	20597410	2	4	74	1	0	0	0	0	0	0	0	1	14770	718	25	4		4	SLIT2	4	20597410	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	54	20597410	170556866	288	10983										
SLIT2	9353	genome.wustl.edu	37	chr4	20620537	20620537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtggaccgctgaggagcaagCggcggaaatactctttcgaa	14	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:20620537C>T	ENST00000504154.1	+	37	4747	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	SLIT2_ENST00000503823.1_Missense_Mutation_p.R1491W|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1495W|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1512W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1499	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGGAGCAAGCGGCGGAAATA	0.557																																																	0													131	109	117					4																	20620537		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4495C>T	4.37:g.20620537C>T	ENSP00000422591:p.Arg1499Trp		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1499W	ENST00000504154.1	37	c.4495	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557778	0.65425	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;T;D	0.81996	-1.55;-1.56;-1.47;-1.53	6.17	-0.19	0.13256	Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92103	0.5690	10	0.87932	D	0	.	18.5711	0.91136	0.7328:0.2672:0.0:0.0	.	1491;1499	O94813-3;O94813	.;SLIT2_HUMAN	W	1491;1499;1512;1495;1495	ENSP00000427548:R1491W;ENSP00000422591:R1499W;ENSP00000273739:R1512W;ENSP00000422261:R1495W	ENSP00000273739:R1512W	R	+	1	2	SLIT2	20229635	1.000000	0.71417	0.988000	0.46212	0.920000	0.55202	1.329000	0.33770	0.017000	0.15025	0.655000	0.94253	CGG	SLIT2	-	smart_Cys_knot_C,pfscan_Cys_knot_C		0.557	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20620537	1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	0.999	T	T	20620537	C	T	20620537	3	4	74	1	0	0	0	0	1	0	0	0	14770	759	27	2	4641	2	SLIT2	4	20620537	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	23127	20620537	170533739	289	10984										
SLC34A2	10568	genome.wustl.edu	37	chr4	25677956	25677956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctctcgctggccggctggcGggtgctggttggtgtcgggg	20	11	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:25677956G>A	ENST00000382051.3	+	13	1708	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R552Q|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R552Q	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCCGGCTGGCGGGTGCTGGTT	0.592			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													117	113	114					4																	25677956		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1658G>A	4.37:g.25677956G>A	ENSP00000371483:p.Arg553Gln		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.R553Q	ENST00000382051.3	37	c.1658	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307474	0.23821	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20738	2.05;2.05;2.05	5.18	2.32	0.28847	.	0.480143	0.24359	N	0.039213	T	0.08088	0.0202	N	0.02802	-0.49	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.36383	-0.9750	10	0.18276	T	0.48	-9.584	10.6039	0.45384	0.5138:0.3697:0.1166:0.0	.	552;553	O95436-2;O95436	.;NPT2B_HUMAN	Q	552;553;552	ENSP00000425501:R552Q;ENSP00000371483:R553Q;ENSP00000423021:R552Q	ENSP00000371483:R553Q	R	+	2	0	SLC34A2	25287054	0.004000	0.15560	0.429000	0.26710	0.954000	0.61252	0.134000	0.15932	0.199000	0.20427	-0.234000	0.12200	CGG	SLC34A2	-	tigrfam_Na/Pi_transpt		0.592	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	G	NM_006424		25677956	1	no_errors	ENST00000382051	ensembl	human	known	70_37	missense	SNP	0.294	A	A	25677956	G	A	25677956	3	1	74	1	0	0	0	0	1	0	0	0	14598	1116	39	2	1704	2	SLC34A2	4	25677956	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5057419	25677956	165476320	290	10985										
ARAP2	116984	genome.wustl.edu	37	chr4	36160435	36160435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacagaggaatgtggactggGaagactcttgacttaataca	11	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:36160435G>A	ENST00000303965.4	-	15	3158	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	890	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTGGACTGGGAAGACTCTTG	0.343																																																	0													45	47	47					4																	36160435		2202	4298	6500	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2669C>T	4.37:g.36160435G>A	ENSP00000302895:p.Ser890Phe		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S890F	ENST00000303965.4	37	c.2669	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041347	0.35989	.	.	ENSG00000047365	ENST00000303965	D	0.93488	-3.23	6.17	2.4	0.29515	Pleckstrin homology domain (1);	1.127800	0.06413	N	0.721011	D	0.93475	0.7918	L	0.44542	1.39	0.09310	N	1	P	0.37612	0.602	P	0.45377	0.478	T	0.82725	-0.0315	10	0.36615	T	0.2	.	17.4297	0.87536	0.0:0.4711:0.5289:0.0	.	890	Q8WZ64	ARAP2_HUMAN	F	890	ENSP00000302895:S890F	ENSP00000302895:S890F	S	-	2	0	ARAP2	35836830	0.159000	0.22864	0.003000	0.11579	0.497000	0.33675	1.486000	0.35530	0.135000	0.18707	0.655000	0.94253	TCC	ARAP2	-	pfscan_Pleckstrin_homology		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	G	NM_015230		36160435	-1	no_errors	ENST00000303965	ensembl	human	known	70_37	missense	SNP	0.025	A	A	36160435	G	A	36160435	3	1	74	1	0	0	0	0	1	0	0	0	839	1174	41	1	2521	1	ARAP2	4	36160435	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10482479	36160435	154993841	291	10986										
KLB	152831	genome.wustl.edu	37	chr4	39435888	39435888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgcccacatcagaagggttGgttatcgatcacgttgggat	12	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:39435888G>T	ENST00000257408.4	+	2	981	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	295	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGAAGGGTTGGTTATCGATC	0.413																																																	0													102	89	93					4																	39435888		2203	4300	6503	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.884G>T	4.37:g.39435888G>T	ENSP00000257408:p.Trp295Leu		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.W295L	ENST00000257408.4	37	c.884	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	G	5.202	0.222757	0.09863	.	.	ENSG00000134962	ENST00000257408	T	0.30448	1.53	6.17	-0.0709	0.13745	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.588758	0.19510	N	0.112530	T	0.07818	0.0196	N	0.01417	-0.88	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.38001	-0.9681	10	0.09590	T	0.72	-2.4444	6.2408	0.20789	0.1989:0.0:0.3316:0.4696	.	295;295	B7ZL50;Q86Z14	.;KLOTB_HUMAN	L	295	ENSP00000257408:W295L	ENSP00000257408:W295L	W	+	2	0	KLB	39112283	0.081000	0.21417	0.029000	0.17559	0.861000	0.49209	1.102000	0.31050	0.181000	0.19994	0.655000	0.94253	TGG	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	G	NM_175737		39435888	1	no_errors	ENST00000257408	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39435888	G	T	39435888	3	4	74	1	0	0	0	0	1	0	0	0	8352	1357	47	4	890	4	KLB	4	39435888	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3275453	39435888	151718388	292	10987										
KLB	152831	genome.wustl.edu	37	chr4	39448914	39448914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcaggacatcacccgcctGagctcccccacgcgcctggc	10	20	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:39448914G>A	ENST00000257408.4	+	4	2665	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	856	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCACCCGCCTGAGCTCCCCCA	0.627																																																	0													61	61	61					4																	39448914		2203	4300	6503	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2568G>A	4.37:g.39448914G>A			Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L856	ENST00000257408.4	37	c.2568	CCDS3451.1	4																																																																																			KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.627	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	G	NM_175737		39448914	1	no_errors	ENST00000257408	ensembl	human	known	70_37	silent	SNP	0.961	A	A	39448914	G	A	39448914	2	1	74	1	0	0	0	0	0	0	0	1	8352	1277	45	1		1	KLB	4	39448914	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	13026	39448914	151705362	293	10988										
ATP10D	57205	genome.wustl.edu	37	chr4	47589060	47589060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggattcacttgctggtcatcAttggtagcatcttgtcttat	9	8	5	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:47589060A>T	ENST00000273859.3	+	22	4047	c.3778A>T	c.(3778-3780)Att>Ttt	p.I1260F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1260					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCTGGTCATCATTGGTAGCAT	0.433																																																	0													250	211	224					4																	47589060		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3778A>T	4.37:g.47589060A>T	ENSP00000273859:p.Ile1260Phe		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.I1260F	ENST00000273859.3	37	c.3778	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	A	0.539	-0.854483	0.02630	.	.	ENSG00000145246	ENST00000273859	T	0.39997	1.05	5.11	-1.04	0.10068	.	2.054730	0.01603	N	0.022175	T	0.30448	0.0765	N	0.21194	0.64	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.18935	-1.0321	10	0.16420	T	0.52	0.4515	11.1256	0.48317	0.5219:0.0:0.4781:0.0	.	1260	Q9P241	AT10D_HUMAN	F	1260	ENSP00000273859:I1260F	ENSP00000273859:I1260F	I	+	1	0	ATP10D	47283817	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-2.121000	0.01322	-0.472000	0.06881	-0.242000	0.12053	ATT	ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transl		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	A	NM_020453		47589060	1	no_errors	ENST00000273859	ensembl	human	known	70_37	missense	SNP	0.000	T	T	47589060	A	T	47589060	3	4	74	1	0	0	0	0	1	0	0	0	1119	217	8	5	3860	5	ATP10D	4	47589060	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	8140146	47589060	143565216	294	10989										
OCIAD1	54940	genome.wustl.edu	37	chr4	48854008	48854008	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaaggtagaaacttctcttGaaatgaatttcaacatttta	5	7	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:48854008G>C	ENST00000381473.3	+	7	965				OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000513391.2_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000396448.2_Nonstop_Mutation_p.*188S|OCIAD1_ENST00000508293.1_Intron|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000264312.7_Intron|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000512981.1_3'UTR	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1							endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AACTTCTCTTGAAATGAATTT	0.358																																																	0													97	95	95					4																	48854008		2203	4300	6503	SO:0001627	intron_variant	54940			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.547+16G>C	4.37:g.48854008G>C			C9K030|G8JLN7|Q9BZE8	Nonstop_Mutation	SNP	pfam_OCIA	p.*188S	ENST00000381473.3	37	c.563	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096541	0.56075	.	.	ENSG00000109180	ENST00000396448	.	.	.	5.0	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5948	0.56463	0.0:0.0:0.8351:0.1649	.	.	.	.	S	188	.	.	X	+	2	2	OCIAD1	48548765	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.627000	0.46469	2.474000	0.83562	0.467000	0.42956	TGA	OCIAD1	-	NULL		0.358	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	G	NM_017830		48854008	1	no_errors	ENST00000396448	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	48854008	G	C	48854008	1	2	74	0	1	0	0	0	0	0	0	0	10841	1285	45	1		1	OCIAD1	4	48854008	Intron	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1264948	48854008	142300268	295	10990										
KDR	3791	genome.wustl.edu	37	chr4	55964327	55964327	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttcagccggtctctggggAattcccatttgctggcatca	11	12	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:55964327A>T	ENST00000263923.4	-	17	2781	c.2486T>A	c.(2485-2487)tTc>tAc	p.F829Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	829					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTCTGGGGAATTCCCATTT	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													114	111	112					4																	55964327		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2486T>A	4.37:g.55964327A>T	ENSP00000263923:p.Phe829Tyr		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.F829Y	ENST00000263923.4	37	c.2486	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719372	0.89205	.	.	ENSG00000128052	ENST00000263923	D	0.89196	-2.48	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94637	0.7827	10	0.72032	D	0.01	.	16.2366	0.82380	1.0:0.0:0.0:0.0	.	829	P35968	VGFR2_HUMAN	Y	829	ENSP00000263923:F829Y	ENSP00000263923:F829Y	F	-	2	0	KDR	55659084	1.000000	0.71417	0.968000	0.41197	0.755000	0.42902	9.339000	0.96797	2.237000	0.73441	0.533000	0.62120	TTC	KDR	-	superfamily_Kinase-like_dom		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	A			55964327	-1	no_errors	ENST00000263923	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55964327	A	T	55964327	3	4	74	1	0	0	0	0	1	0	0	0	8159	246	9	5	1640	5	KDR	4	55964327	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	7110319	55964327	135189949	296	10991										
CEP135	9662	genome.wustl.edu	37	chr4	56847537	56847537	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaaggaagctttaagagaaAaattagaggtaagaagattg	11	1	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:56847537A>T	ENST00000257287.4	+	13	1895	c.1771A>T	c.(1771-1773)Aaa>Taa	p.K591*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	591					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAGAGAAAAATTAGAGGT	0.323																																																	0													94	107	102					4																	56847537		2201	4296	6497	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1771A>T	4.37:g.56847537A>T	ENSP00000257287:p.Lys591*		B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.K591*	ENST00000257287.4	37	c.1771	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	A	38	7.221202	0.98143	.	.	ENSG00000174799	ENST00000257287	.	.	.	4.69	4.69	0.59074	.	0.188406	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0993	0.65044	1.0:0.0:0.0:0.0	.	.	.	.	X	591	.	ENSP00000257287:K591X	K	+	1	0	CEP135	56542294	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.630000	0.67805	1.879000	0.54435	0.383000	0.25322	AAA	CEP135	-	NULL		0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	A	NM_025009		56847537	1	no_errors	ENST00000257287	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	56847537	A	T	56847537	4	4	74	1	0	0	0	0	0	1	0	0	3252	15	1	5	1817	5	CEP135	4	56847537	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	883210	56847537	134306739	297	10992										
REST	5978	genome.wustl.edu	37	chr4	57777658	57777658	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaaaatgcaactatttttCagacagaaaaaacaattatg	6	5	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:57777658C>T	ENST00000309042.7	+	2	1168	c.854C>T	c.(853-855)tCa>tTa	p.S285L	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	285					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTATTTTTCAGACAGAAAA	0.348																																																	0													52	55	54					4																	57777658		2203	4298	6501	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.854C>T	4.37:g.57777658C>T	ENSP00000311816:p.Ser285Leu		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S285L	ENST00000309042.7	37	c.854	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829814	0.91036	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.26957	1.7	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.48537	0.1505	L	0.53780	1.695	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.78314	0.801;0.991	T	0.43360	-0.9396	10	0.72032	D	0.01	-6.4151	18.6399	0.91392	0.0:1.0:0.0:0.0	.	285;285	Q13127-2;Q13127	.;REST_HUMAN	L	285	ENSP00000311816:S285L	ENSP00000311816:S285L	S	+	2	0	REST	57472415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.594000	0.82698	2.749000	0.94314	0.655000	0.94253	TCA	REST	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2	C	NM_005612		57777658	1	no_errors	ENST00000309042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57777658	C	T	57777658	3	4	74	1	0	0	0	0	1	0	0	0	13264	838	29	1	856	1	REST	4	57777658	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	930121	57777658	133376618	298	10993										
EPHA5	2044	genome.wustl.edu	37	chr4	66361197	66361197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttcctcatgggtataactGtgaggtggacatttgccgca	12	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:66361197G>T	ENST00000273854.3	-	4	1575	c.975C>A	c.(973-975)caC>caA	p.H325Q	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.H325Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.H325Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	325	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGTATAACTGTGAGGTGGAC	0.463										TSP Lung(17;0.13)																																							0													150	148	149					4																	66361197		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.975C>A	4.37:g.66361197G>T	ENSP00000273854:p.His325Gln		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H325Q	ENST00000273854.3	37	c.975	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064327	0.76187	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.73152	-0.72;-0.69;-0.71	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000025	T	0.77391	0.4123	M	0.75884	2.315	0.44880	D	0.997897	B;B;B;P	0.48503	0.059;0.389;0.097;0.911	B;B;B;P	0.45829	0.04;0.254;0.086;0.494	T	0.80308	-0.1437	10	0.87932	D	0	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	325;325;325;325	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	325	ENSP00000273854:H325Q;ENSP00000346899:H325Q;ENSP00000427638:H325Q	ENSP00000273854:H325Q	H	-	3	2	EPHA5	66043792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.198000	0.65147	2.805000	0.96524	0.460000	0.39030	CAC	EPHA5	-	superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66361197	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66361197	G	T	66361197	3	4	74	1	0	0	0	0	1	0	0	0	5182	1368	48	4	2198	4	EPHA5	4	66361197	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8583539	66361197	124793079	299	10994										
ANKRD17	26057	genome.wustl.edu	37	chr4	73985919	73985919	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaatttgtaatgccctttatCtgctgctatggttaaagctg	9	7	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:73985919C>G	ENST00000358602.4	-	21	4101	c.3985G>C	c.(3985-3987)Gat>Cat	p.D1329H	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D1078H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D1216H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1329					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCCTTTATCTGCTGCTATG	0.428																																																	0													167	151	156					4																	73985919		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3985G>C	4.37:g.73985919C>G	ENSP00000351416:p.Asp1329His		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.D1329H	ENST00000358602.4	37	c.3985	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499123	0.85069	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.64618	-0.11;-0.11;-0.11	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.68201	0.2975	N	0.16266	0.395	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.998;0.998;0.999;0.999	T	0.68914	-0.5283	10	0.39692	T	0.17	.	19.7934	0.96469	0.0:1.0:0.0:0.0	.	850;1328;1078;1329;1216	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1329;1078;1216	ENSP00000351416:D1329H;ENSP00000332265:D1078H;ENSP00000427151:D1216H	ENSP00000332265:D1078H	D	-	1	0	ANKRD17	74204783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.678000	0.91216	0.585000	0.79938	GAT	ANKRD17	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	C	NM_032217		73985919	-1	no_errors	ENST00000358602	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73985919	C	G	73985919	3	3	74	1	0	0	0	0	1	0	0	0	646	913	32	1	3882	1	ANKRD17	4	73985919	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7624722	73985919	117168357	300	10995										
SCARB2	950	genome.wustl.edu	37	chr4	77089622	77089622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggctgcttttaggattattCcagtcaactgcaaatcagag	9	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:77089622C>A	ENST00000264896.2	-	9	1470	c.1121G>T	c.(1120-1122)gGa>gTa	p.G374V	SCARB2_ENST00000452464.2_Missense_Mutation_p.G231V	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	374					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAGGATTATTCCAGTCAACTG	0.348																																																	0													121	127	125					4																	77089622		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1121G>T	4.37:g.77089622C>A	ENSP00000264896:p.Gly374Val		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.G374V	ENST00000264896.2	37	c.1121	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204022	0.79127	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	D;D	0.91631	-2.88;-2.88	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98039	1.0381	10	0.87932	D	0	.	15.9511	0.79840	0.0:1.0:0.0:0.0	.	231;374	E7EM68;Q14108	.;SCRB2_HUMAN	V	374;231	ENSP00000264896:G374V;ENSP00000399154:G231V	ENSP00000264896:G374V	G	-	2	0	SCARB2	77308646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.547000	0.67249	2.747000	0.94245	0.650000	0.86243	GGA	SCARB2	-	pfam_CD36,prints_CD36		0.348	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	C	NM_005506		77089622	-1	no_errors	ENST00000264896	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77089622	C	A	77089622	3	1	74	1	0	0	0	0	1	0	0	0	13912	855	30	3	331	3	SCARB2	4	77089622	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3103703	77089622	114064654	301	10996										
CCDC158	339965	genome.wustl.edu	37	chr4	77288844	77288844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaactcttctactactttgCgcagcatctctttggtggat	7	11	4	0	rs561723655		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:77288844C>T	ENST00000388914.3	-	11	1585	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	478										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TACTACTTTGCGCAGCATCTC	0.433													C|||	1	0.000199681	0	0	5008	,	,		19470	0		0.001	False		,,,				2504	0																0													69	67	67					4																	77288844		1893	4117	6010	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1433G>A	4.37:g.77288844C>T	ENSP00000373566:p.Arg478His		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R478H	ENST00000388914.3	37	c.1433	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809252	0.70797	.	.	ENSG00000163749	ENST00000388914	T	0.78595	-1.19	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000021	T	0.72252	0.3437	N	0.19112	0.55	0.80722	D	1	P	0.51537	0.946	P	0.52598	0.703	T	0.70092	-0.4967	9	.	.	.	.	12.3218	0.54989	0.0:0.9204:0.0:0.0796	.	478	Q5M9N0	CD158_HUMAN	H	478	ENSP00000373566:R478H	.	R	-	2	0	CCDC158	77507868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.944000	0.40263	2.711000	0.92665	0.563000	0.77884	CGC	CCDC158	-	NULL		0.433	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	C	NM_001042784		77288844	-1	no_errors	ENST00000388914	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77288844	C	T	77288844	3	4	74	1	0	0	0	0	1	0	0	0	2795	768	27	2	1964	2	CCDC158	4	77288844	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	199222	77288844	113865432	302	10997										
SHROOM3	57619	genome.wustl.edu	37	chr4	77476820	77476820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actgcaggctggggatgaggTtgtgcacatcaatgaggtga	16	6	1	3	rs375262707		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:77476820T>C	ENST00000296043.6	+	2	1180	c.227T>C	c.(226-228)gTt>gCt	p.V76A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	76	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGGATGAGGTTGTGCACATC	0.567																																																	0								T	ALA/VAL	0,4406		0,0,2203	121	112	115		227	3.5	0.9	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHROOM3	NM_020859.3	64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	76/1997	77476820	1,13005	2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.227T>C	4.37:g.77476820T>C	ENSP00000296043:p.Val76Ala		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V76A	ENST00000296043.6	37	c.227	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432278	0.43122	0.0	1.16E-4	ENSG00000138771	ENST00000296043	T	0.30448	1.53	4.69	3.49	0.39957	PDZ/DHR/GLGF (4);	0.498534	0.16842	N	0.197301	T	0.39911	0.1096	M	0.84773	2.715	0.33052	D	0.532878	B	0.29162	0.235	B	0.32465	0.146	T	0.54417	-0.8297	10	0.87932	D	0	-17.2642	9.5329	0.39205	0.0:0.0826:0.0:0.9174	.	76	Q8TF72	SHRM3_HUMAN	A	76	ENSP00000296043:V76A	ENSP00000296043:V76A	V	+	2	0	SHROOM3	77695844	1.000000	0.71417	0.866000	0.34008	0.606000	0.37113	7.634000	0.83273	0.882000	0.36016	0.383000	0.25322	GTT	SHROOM3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.567	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	T	NM_020859		77476820	1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	0.988	C	C	77476820	T	C	77476820	3	2	74	1	0	0	0	0	1	0	0	0	14325	1725	60	5	233	5	SHROOM3	4	77476820	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	187976	77476820	113677456	303	10998										
AGPAT9	84803	genome.wustl.edu	37	chr4	84519211	84519211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttttttctcagtataaccCtcagttcggtgatgcatttt	6	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:84519211C>T	ENST00000395226.2	+	11	1222	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.P335L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	335					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAGTATAACCCTCAGTTCGGT	0.428																																																	0													114	109	111					4																	84519211		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1004C>T	4.37:g.84519211C>T	ENSP00000378651:p.Pro335Leu		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.P335L	ENST00000395226.2	37	c.1004	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701581	0.88924	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.93076	-3.16;-3.16	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94822	0.7988	10	0.24483	T	0.36	-14.3745	19.6718	0.95914	0.0:1.0:0.0:0.0	.	335	Q53EU6	GPAT3_HUMAN	L	335	ENSP00000378651:P335L;ENSP00000264409:P335L	ENSP00000264409:P335L	P	+	2	0	AGPAT9	84738235	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.844000	0.62846	2.639000	0.89480	0.557000	0.71058	CCT	AGPAT9	-	NULL		0.428	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	C	NM_032717		84519211	1	no_errors	ENST00000264409	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84519211	C	T	84519211	3	4	74	1	0	0	0	0	1	0	0	0	392	681	24	4	1042	4	AGPAT9	4	84519211	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7042391	84519211	106635065	304	10999										
WDFY3	23001	genome.wustl.edu	37	chr4	85710969	85710969	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attaccaggaccaaatgatgCcactgtccctcaatgataag	7	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:85710969C>T	ENST00000295888.4	-	22	3986	c.3579G>A	c.(3577-3579)tgG>tgA	p.W1193*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.W1193*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1193					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCAAATGATGCCACTGTCCCT	0.398																																																	0													138	130	133					4																	85710969		2203	4300	6503	SO:0001587	stop_gained	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3579G>A	4.37:g.85710969C>T	ENSP00000295888:p.Trp1193*		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W1193*	ENST00000295888.4	37	c.3579	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.279166	0.99653	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7404	0.88405	0.0:1.0:0.0:0.0	.	.	.	.	X	1193	.	ENSP00000295888:W1193X	W	-	3	0	WDFY3	85929993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.772000	0.85439	2.223000	0.72356	0.561000	0.74099	TGG	WDFY3	-	superfamily_ConA-like_lec_gl_sf		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85710969	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	85710969	C	T	85710969	4	4	74	1	0	0	0	0	0	1	0	0	17301	740	26	4	7189	4	WDFY3	4	85710969	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1191758	85710969	105443307	305	11000										
HERC5	51191	genome.wustl.edu	37	chr4	89408255	89408255	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtacaatgctgcgtcatattCagtcactttccatttatctt	5	10	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:89408255C>G	ENST00000264350.3	+	15	2040	c.1887C>G	c.(1885-1887)ttC>ttG	p.F629L	HERC5_ENST00000508159.1_Missense_Mutation_p.F267L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	629					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GCGTCATATTCAGTCACTTTC	0.313																																					Esophageal Squamous(39;887 1012 34045 50514)												0													96	95	96					4																	89408255		2203	4298	6501	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1887C>G	4.37:g.89408255C>G	ENSP00000264350:p.Phe629Leu		B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.F629L	ENST00000264350.3	37	c.1887	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	C	4.521	0.096705	0.08681	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.81415	-1.49;-1.49	4.33	3.48	0.39840	.	0.311140	0.27447	N	0.019321	T	0.77336	0.4115	M	0.73962	2.25	0.25373	N	0.988683	B	0.20368	0.044	B	0.24269	0.052	T	0.61257	-0.7099	10	0.13853	T	0.58	.	11.3776	0.49737	0.0:0.9053:0.0:0.0947	.	629	Q9UII4	HERC5_HUMAN	L	629;267	ENSP00000264350:F629L;ENSP00000424129:F267L	ENSP00000264350:F629L	F	+	3	2	HERC5	89627278	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	1.358000	0.34102	0.780000	0.33566	-1.094000	0.02160	TTC	HERC5	-	NULL		0.313	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	C	NM_016323		89408255	1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.997	G	G	89408255	C	G	89408255	3	3	74	1	0	0	0	0	1	0	0	0	7081	825	29	1	1945	1	HERC5	4	89408255	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3697286	89408255	101746021	306	11001										
PDLIM5	10611	genome.wustl.edu	37	chr4	95539295	95539295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgccttcaagcctgtaggatCcactggcgtcatcaagtcac	9	13	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:95539295C>T	ENST00000317968.4	+	8	1197	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	PDLIM5_ENST00000437932.1_Missense_Mutation_p.S245F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.S383F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S232F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	354					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCTGTAGGATCCACTGGCGTC	0.552																																																	0													56	48	50					4																	95539295		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1061C>T	4.37:g.95539295C>T	ENSP00000321746:p.Ser354Phe		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S354F	ENST00000317968.4	37	c.1061	CCDS3641.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155917	0.57259	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	T;T;T;T;T	0.60920	0.4;0.53;0.38;0.15;0.38	5.49	5.49	0.81192	.	0.739356	0.13485	N	0.384391	T	0.57710	0.2072	L	0.47716	1.5	0.19775	N	0.999953	P;P;P;B	0.45902	0.523;0.868;0.668;0.377	B;B;B;B	0.43728	0.429;0.311;0.326;0.309	T	0.56757	-0.7926	10	0.62326	D	0.03	.	16.0682	0.80903	0.0:1.0:0.0:0.0	.	251;383;354;245	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	F	245;354;251;232;383	ENSP00000398469:S245F;ENSP00000321746:S354F;ENSP00000424297:S251F;ENSP00000442187:S232F;ENSP00000424360:S383F	ENSP00000321746:S354F	S	+	2	0	PDLIM5	95758318	0.025000	0.19082	0.534000	0.28014	0.275000	0.26752	2.292000	0.43549	2.581000	0.87130	0.585000	0.79938	TCC	PDLIM5	-	NULL		0.552	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	C			95539295	1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	0.279	T	T	95539295	C	T	95539295	3	4	74	1	0	0	0	0	1	0	0	0	11707	855	30	1	1247	1	PDLIM5	4	95539295	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6131040	95539295	95614981	307	11002										
NFKB1	4790	genome.wustl.edu	37	chr4	103534740	103534741	+	Splice_Site	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccacaaggcagcaaataggtINSaaaaaaaaagacaaaagaca					rs386357216|rs148268461	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:103534740_103534741insA	ENST00000505458.1	+	23	3023		c.e23+2		NFKB1_ENST00000600343.1_Splice_Site|NFKB1_ENST00000394820.4_Splice_Site|NFKB1_ENST00000226574.4_Splice_Site			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1						apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AGCAAATAGGTAAAAAAAAAGA	0.5													?|AAAAAAAAA|AAAAAAAAAA|unsure	422	0.0842652	0.1641	0.0389	5008	,	,		18742	0.0605		0.0696	False		,,,				2504	0.0481																0									,	509,3757		21,467,1645					,	4.8	1		dbSNP_126	29	537,7717		10,517,3600	no	splice-5,splice-5	NFKB1	NM_003998.3,NM_001165412.1	,	31,984,5245	A1A1,A1R,RR		6.5059,11.9316,8.3546	,	,		1046,11474				SO:0001630	splice_region_variant	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2746+2->A	4.37:g.103534749_103534749dupA			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Splice_Site	INS	-	e22+2	ENST00000505458.1	37	c.2749+2_2749+1	CCDS54783.1	4																																																																																			NFKB1	-	-		0.5	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-		Intron	103534741	1	no_errors	ENST00000226574	ensembl	human	known	70_37	splice_site_ins	INS	0.998:0.217	A	A	103534741	-	A	103534740	8	5	74	1	0	1	1	0	0	0	1	0	10399	1652	57	0	2837	0	NFKB1	4	103534740	Splice_Site	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	7995445	103534740	87619536	308	11003										
CENPE	1062	genome.wustl.edu	37	chr4	104068764	104068764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtctcactgacttctttcaCattaggcagtaactcttgtt	6	10	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:104068764C>T	ENST00000265148.3	-	29	3972	c.3883G>A	c.(3883-3885)Gtg>Atg	p.V1295M	CENPE_ENST00000380026.3_Missense_Mutation_p.V1270M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1295					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTTCTTTCACATTAGGCAGT	0.363																																																	0													159	137	145					4																	104068764		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3883G>A	4.37:g.104068764C>T	ENSP00000265148:p.Val1295Met		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1295M	ENST00000265148.3	37	c.3883	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758295	0.15846	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71817	-0.6;-0.6	5.02	0.232	0.15381	.	.	.	.	.	T	0.57917	0.2086	L	0.54323	1.7	0.09310	N	1	B;P	0.35272	0.048;0.493	B;B	0.29785	0.022;0.107	T	0.49986	-0.8880	9	0.56958	D	0.05	.	4.2095	0.10505	0.0:0.4586:0.1658:0.3755	.	1270;1295	Q02224-3;Q02224	.;CENPE_HUMAN	M	1295;1295;1270	ENSP00000265148:V1295M;ENSP00000369365:V1270M	ENSP00000265148:V1295M	V	-	1	0	CENPE	104288213	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.178000	0.09782	-0.073000	0.12842	0.585000	0.79938	GTG	CENPE	-	NULL		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104068764	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.000	T	T	104068764	C	T	104068764	3	4	74	1	0	0	0	0	1	0	0	0	3235	478	17	4	4306	4	CENPE	4	104068764	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	534024	104068764	87085512	309	11004										
CENPE	1062	genome.wustl.edu	37	chr4	104080379	104080379	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcttttgttttcccaatttCttcaagtaaaccttgaactc	3	10	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:104080379C>T	ENST00000265148.3	-	22	2478	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CENPE_ENST00000380026.3_Missense_Mutation_p.E772K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	797					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCCCAATTTCTTCAAGTAAA	0.323																																																	0													115	116	116					4																	104080379		2202	4299	6501	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2389G>A	4.37:g.104080379C>T	ENSP00000265148:p.Glu797Lys		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E797K	ENST00000265148.3	37	c.2389	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497504	0.64186	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.79247	-1.25;-1.25;-1.25	4.92	4.08	0.47627	.	.	.	.	.	D	0.83004	0.5160	M	0.62723	1.935	0.41601	D	0.988852	B;D	0.76494	0.129;0.999	B;D	0.63192	0.067;0.912	D	0.83898	0.0288	9	0.87932	D	0	.	9.2124	0.37326	0.0:0.7769:0.1455:0.0776	.	772;797	Q02224-3;Q02224	.;CENPE_HUMAN	K	797;797;772;797	ENSP00000265148:E797K;ENSP00000369365:E772K;ENSP00000423981:E797K	ENSP00000265148:E797K	E	-	1	0	CENPE	104299828	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	3.075000	0.50073	1.194000	0.43101	0.650000	0.86243	GAA	CENPE	-	NULL		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104080379	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104080379	C	T	104080379	3	4	74	1	0	0	0	0	1	0	0	0	3235	922	32	1	5828	1	CENPE	4	104080379	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11615	104080379	87073897	310	11005										
CENPE	1062	genome.wustl.edu	37	chr4	104084651	104084651	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcacctcaagatcttgattAtatacttctgcatgcttaac	4	11	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:104084651A>T	ENST00000265148.3	-	17	1796	c.1707T>A	c.(1705-1707)taT>taA	p.Y569*	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	569					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATCTTGATTATATACTTCTG	0.318																																																	0													73	66	69					4																	104084651		2202	4295	6497	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1707T>A	4.37:g.104084651A>T	ENSP00000265148:p.Tyr569*		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y569*	ENST00000265148.3	37	c.1707	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	A	38	6.830774	0.97869	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000503705	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3783	0.11281	0.7663:0.0:0.2337:0.0	.	.	.	.	X	569	.	ENSP00000265148:Y569X	Y	-	3	2	CENPE	104304100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.884000	0.56175	2.225000	0.72522	0.454000	0.30748	TAT	CENPE	-	NULL		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		A			104084651	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	104084651	A	T	104084651	4	4	74	1	0	0	0	0	0	1	0	0	3235	456	16	5	6530	5	CENPE	4	104084651	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	4272	104084651	87069625	311	11006										
RRH	10692	genome.wustl.edu	37	chr4	110758730	110758730	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcactgagtccctcaacaGagactggtcagatcagatag	10	11	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:110758730G>A	ENST00000317735.4	+	5	723	c.689G>A	c.(688-690)aGa>aAa	p.R230K		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	230					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TCCCTCAACAGAGACTGGTCA	0.398																																																	0													94	79	84					4																	110758730		2203	4300	6503	SO:0001583	missense	10692			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"GPCR / Class A : Opsin receptors"	10450	protein-coding gene	gene with protein product	"peropsin"	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.689G>A	4.37:g.110758730G>A	ENSP00000314992:p.Arg230Lys		A1A4V2|Q7RTS4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.R230K	ENST00000317735.4	37	c.689	CCDS3687.1	4	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912135	0.52439	.	.	ENSG00000180245	ENST00000317735	T	0.35605	1.3	5.92	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.369984	0.33144	N	0.005222	T	0.25644	0.0624	L	0.34521	1.04	0.27099	N	0.962661	B	0.21821	0.061	B	0.24974	0.057	T	0.13656	-1.0501	10	0.25106	T	0.35	.	8.5949	0.33710	0.0:0.2312:0.5271:0.2417	.	230	O14718	OPSX_HUMAN	K	230	ENSP00000314992:R230K	ENSP00000314992:R230K	R	+	2	0	RRH	110978179	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	2.978000	0.49305	1.503000	0.48686	0.585000	0.79938	AGA	RRH	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin		0.398	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1	G	NM_006583		110758730	1	no_errors	ENST00000317735	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110758730	G	A	110758730	3	1	74	1	0	0	0	0	1	0	0	0	13710	942	33	1	707	1	RRH	4	110758730	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6674079	110758730	80395546	312	11007										
ANK2	287	genome.wustl.edu	37	chr4	114275565	114275565	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aacacccgccagtatcgcctGggagaacagaaaaacgcttg	10	12	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:114275565G>C	ENST00000357077.4	+	38	5844	c.5791G>C	c.(5791-5793)Ggg>Cgg	p.G1931R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1898R|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1931	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTATCGCCTGGGAGAACAGA	0.532																																																	0													57	56	56					4																	114275565		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5791G>C	4.37:g.114275565G>C	ENSP00000349588:p.Gly1931Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1931R	ENST00000357077.4	37	c.5791	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833980	0.71373	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66815	-0.21;-0.23	5.65	4.77	0.60923	.	0.000000	0.46145	D	0.000313	T	0.72293	0.3442	L	0.59436	1.845	0.20975	N	0.999813	P;D	0.63046	0.926;0.992	P;D	0.64410	0.459;0.925	T	0.64774	-0.6328	9	.	.	.	.	5.3166	0.15858	0.1499:0.0:0.6759:0.1742	.	1898;1931	Q01484;Q01484-4	ANK2_HUMAN;.	R	1931;1898	ENSP00000349588:G1931R;ENSP00000264366:G1898R	.	G	+	1	0	ANK2	114495014	0.148000	0.22702	0.978000	0.43139	0.896000	0.52359	1.475000	0.35409	2.941000	0.99782	0.655000	0.94253	GGG	ANK2	-	NULL		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114275565	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.089	C	C	114275565	G	C	114275565	3	2	74	1	0	0	0	0	1	0	0	0	621	1348	47	4	6006	4	ANK2	4	114275565	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3516835	114275565	76878711	313	11008										
C4orf3	401152	genome.wustl.edu	37	chr4	120219935	120219935	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttagatatcagcgaacaagtCtgtaaaaagcaagtatttgt	8	5	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:120219935C>T	ENST00000504110.1	-	2	586		c.e2-1		C4orf3_ENST00000399075.4_Splice_Site	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						GCGAACAAGTCTGTAAAAAGC	0.318																																																	0													117	110	112					4																	120219935		1820	4071	5891	SO:0001630	splice_region_variant	401152				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"HCV F-transactivated protein 1"						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.199-1G>A	4.37:g.120219935C>T			Q6J203	Splice_Site	SNP	-	e3-1	ENST00000504110.1	37	c.600-1	CCDS43266.1	4																																																																																			C4orf3	-	-		0.318	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	C	NM_001001701	Intron	120219935	-1	no_errors	ENST00000399075	ensembl	human	known	70_37	splice_site	SNP	0.929	T	T	120219935	C	T	120219935	5	4	74	1	0	0	0	0	0	0	1	0	2265	927	32	1	4	1	C4orf3	4	120219935	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5944370	120219935	70934341	314	11009										
IL21	59067	genome.wustl.edu	37	chr4	123534062	123534062	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttgggtggttttttctcatAagaatcacatgaagggcatg	11	5	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:123534062A>C	ENST00000264497.3	-	4	439	c.382T>G	c.(382-384)Tat>Gat	p.Y128D		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	121					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TTTTTCTCATAAGAATCACAT	0.274																																																	0													73	78	77					4																	123534062		2203	4300	6503	SO:0001583	missense	59067			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.382T>G	4.37:g.123534062A>C	ENSP00000264497:p.Tyr128Asp		A5J0L4	Missense_Mutation	SNP	pfam_Interleukin_15-like	p.Y128D	ENST00000264497.3	37	c.382	CCDS3727.1	4	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560125	0.65538	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.68	4.68	0.58851	.	0.142736	0.32190	N	0.006442	T	0.75228	0.3821	M	0.68952	2.095	0.45464	D	0.998435	D;D	0.71674	0.997;0.998	D;D	0.73708	0.967;0.981	T	0.78114	-0.2330	9	0.87932	D	0	-14.0988	11.8037	0.52141	1.0:0.0:0.0:0.0	.	121;121	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	D	128	.	ENSP00000264497:Y128D	Y	-	1	0	IL21	123753512	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.528000	0.60580	1.866000	0.54105	0.482000	0.46254	TAT	IL21	-	pfam_Interleukin_15-like		0.274	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21	HGNC	protein_coding	OTTHUMT00000256713.1	A	NM_021803		123534062	-1	no_errors	ENST00000264497	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123534062	A	C	123534062	3	2	74	1	0	0	0	0	1	0	0	0	7690	362	13	5	114	5	IL21	4	123534062	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3314127	123534062	67620214	315	11010										
SPATA5	166378	genome.wustl.edu	37	chr4	123844350	123844350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaaagcgcggaaaatggttCgtccttgccctctgctgctt	10	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:123844350C>T	ENST00000274008.4	+	1	122	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SPATA5_ENST00000422835.2_3'UTR|NUDT6_ENST00000339154.2_5'Flank|NUDT6_ENST00000304430.5_5'Flank	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAAATGGTTCGTCCTTGCCC	0.542																																																	0													121	124	123					4																	123844350		2203	4300	6503	SO:0001583	missense	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.53C>T	4.37:g.123844350C>T	ENSP00000274008:p.Ser18Leu		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.S18L	ENST00000274008.4	37	c.53	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606035	0.46527	.	.	ENSG00000145375	ENST00000274008	D	0.94576	-3.46	3.97	3.97	0.46021	.	0.726470	0.12715	N	0.445188	D	0.89708	0.6793	L	0.47716	1.5	0.09310	N	0.999996	P;B	0.43662	0.814;0.014	B;B	0.29524	0.103;0.004	D	0.84507	0.0620	10	0.59425	D	0.04	.	11.76	0.51896	0.0:1.0:0.0:0.0	.	18;18	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	18	ENSP00000274008:S18L	ENSP00000274008:S18L	S	+	2	0	SPATA5	124063800	0.213000	0.23551	0.096000	0.21009	0.205000	0.24178	0.913000	0.28611	2.211000	0.71520	0.561000	0.74099	TCG	SPATA5	-	NULL		0.542	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	C	NM_145207		123844350	1	no_errors	ENST00000274008	ensembl	human	known	70_37	missense	SNP	0.142	T	T	123844350	C	T	123844350	3	4	74	1	0	0	0	0	1	0	0	0	15041	893	31	1	55	1	SPATA5	4	123844350	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	310288	123844350	67309926	316	11011										
PCDH10	57575	genome.wustl.edu	37	chr4	134072174	134072174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tactccttcagcagccacatTtcgccccgggcgcgggagct	11	16	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:134072174T>G	ENST00000264360.5	+	1	1705	c.879T>G	c.(877-879)atT>atG	p.I293M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAGCCACATTTCGCCCCGGG	0.622																																																	0													45	49	48					4																	134072174		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.879T>G	4.37:g.134072174T>G	ENSP00000264360:p.Ile293Met		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I293M	ENST00000264360.5	37	c.879	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	T	9.710	1.156745	0.21454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51817	0.69	4.33	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000323	T	0.35885	0.0947	N	0.13043	0.29	0.28136	N	0.929986	D;B	0.61080	0.989;0.033	P;B	0.55222	0.771;0.145	T	0.31586	-0.9938	10	0.49607	T	0.09	.	5.732	0.18045	0.0:0.5242:0.1631:0.3127	.	293;293	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	293	ENSP00000264360:I293M	ENSP00000264360:I293M	I	+	3	3	PCDH10	134291624	0.100000	0.21855	0.992000	0.48379	0.119000	0.20118	-0.678000	0.05209	-0.333000	0.08476	-0.473000	0.04963	ATT	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	T	NM_032961		134072174	1	no_errors	ENST00000264360	ensembl	human	known	70_37	missense	SNP	0.976	G	G	134072174	T	G	134072174	3	3	74	1	0	0	0	0	1	0	0	0	11531	1829	64	5	881	5	PCDH10	4	134072174	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	10227824	134072174	57082102	317	11012										
PRMT10	90826	genome.wustl.edu	37	chr4	148594246	148594246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggataactcacaggcatacaCggaatgtgctccagcttttt	9	10	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:148594246C>T	ENST00000322396.6	-	4	849	c.607G>A	c.(607-609)Gtg>Atg	p.V203M	PRMT10_ENST00000541232.1_Missense_Mutation_p.V90M	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		203	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAGGCATACACGGAATGTGCT	0.388																																																	0													116	106	110					4																	148594246		2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.607G>A	4.37:g.148594246C>T	ENSP00000314396:p.Val203Met		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V203M	ENST00000322396.6	37	c.607	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464203	0.84425	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.46819	0.86;0.86	5.58	5.58	0.84498	.	0.109105	0.64402	D	0.000006	T	0.78259	0.4255	H	0.96720	3.87	0.53688	D	0.999975	D	0.89917	1.0	D	0.83275	0.996	D	0.84695	0.0725	10	0.87932	D	0	.	12.8592	0.57903	0.0:0.9258:0.0:0.0742	.	203	Q6P2P2	ANM10_HUMAN	M	203;90	ENSP00000314396:V203M;ENSP00000439508:V90M	ENSP00000314396:V203M	V	-	1	0	PRMT10	148813696	1.000000	0.71417	0.929000	0.37066	0.971000	0.66376	5.771000	0.68881	2.624000	0.88883	0.655000	0.94253	GTG	PRMT10	-	pfam_Ribosomal-L11_MeTrfase_PrmA		0.388	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	C			148594246	-1	no_errors	ENST00000322396	ensembl	human	known	70_37	missense	SNP	0.998	T	T	148594246	C	T	148594246	3	4	74	1	0	0	0	0	1	0	0	0	12563	536	19	2	1966	2	PRMT10	4	148594246	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	14522072	148594246	42560030	318	11013										
PRSS48	345062	genome.wustl.edu	37	chr4	152198351	152198351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgctggctgtgccttcacGctgctccttctgctggggat	12	14	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:152198351G>A	ENST00000455694.2	+	1	29	c.27G>A	c.(25-27)acG>acA	p.T9T	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Silent_p.T9T	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	9						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTGCCTTCACGCTGCTCCTTC	0.582											OREG0016361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41	49	46					4																	152198351		2167	4291	6458	SO:0001819	synonymous_variant	345062			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.27G>A	4.37:g.152198351G>A		1746	Q08E82|Q0VAD4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T9	ENST00000455694.2	37	c.27	CCDS47145.1	4																																																																																			PRSS48	-	NULL		0.582	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS48	HGNC	protein_coding	OTTHUMT00000365685.3	G	NM_183375		152198351	1	no_errors	ENST00000455694	ensembl	human	known	70_37	silent	SNP	0.001	A	A	152198351	G	A	152198351	2	1	74	1	0	0	0	0	0	0	0	1	12657	1074	38	2		2	PRSS48	4	152198351	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3604105	152198351	38955925	319	11014										
FHDC1	85462	genome.wustl.edu	37	chr4	153897850	153897850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtcggaccacgctggggaGaatcctcaatcccttacgga	11	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:153897850G>C	ENST00000511601.1	+	12	3595	c.3407G>C	c.(3406-3408)aGa>aCa	p.R1136T	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1136T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1136									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACGCTGGGGAGAATCCTCAAT	0.622																																																	0													15	12	13					4																	153897850		2180	4274	6454	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3407G>C	4.37:g.153897850G>C	ENSP00000427567:p.Arg1136Thr			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.R1136T	ENST00000511601.1	37	c.3407	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074009	0.36566	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.35236	1.32;1.32	5.54	-2.82	0.05787	.	0.540120	0.18956	N	0.126545	T	0.17066	0.0410	N	0.19112	0.55	0.18873	N	0.999981	P	0.38922	0.651	B	0.27887	0.084	T	0.07597	-1.0764	10	0.72032	D	0.01	.	11.3305	0.49473	0.6304:0.0:0.3696:0.0	.	1136	Q9C0D6	FHDC1_HUMAN	T	1136	ENSP00000427567:R1136T;ENSP00000260008:R1136T	ENSP00000260008:R1136T	R	+	2	0	FHDC1	154117300	0.682000	0.27624	0.000000	0.03702	0.006000	0.05464	1.036000	0.30228	-0.784000	0.04528	-1.099000	0.02127	AGA	FHDC1	-	NULL		0.622	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	G	NM_033393		153897850	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.051	C	C	153897850	G	C	153897850	3	2	74	1	0	0	0	0	1	0	0	0	5894	942	33	1	3449	1	FHDC1	4	153897850	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1699499	153897850	37256426	320	11015										
FAM198B	51313	genome.wustl.edu	37	chr4	159048577	159048577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtcattcattcataggtaaTactttgaccccgtgtgcatt	7	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:159048577T>C	ENST00000296530.8	-	5	2163	c.1542A>G	c.(1540-1542)gtA>gtG	p.V514V	FAM198B_ENST00000393807.5_Silent_p.V522V|FAM198B_ENST00000585682.1_Silent_p.V514V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	514						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TCATAGGTAATACTTTGACCC	0.348																																																	0													204	213	210					4																	159048577		2203	4300	6503	SO:0001819	synonymous_variant	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1542A>G	4.37:g.159048577T>C			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	NULL	p.V522	ENST00000296530.8	37	c.1566	CCDS3798.1	4																																																																																			FAM198B	-	NULL		0.348	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	T	NM_001031700, NM_016613		159048577	-1	no_errors	ENST00000393807	ensembl	human	known	70_37	silent	SNP	0.000	C	C	159048577	T	C	159048577	2	2	74	1	0	0	0	0	0	0	0	1	5544	1393	49	5		5	FAM198B	4	159048577	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	5150727	159048577	32105699	321	11016										
SH3RF1	57630	genome.wustl.edu	37	chr4	170077646	170077646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggtgggggctgaggtaacGgtttaataatctgcacaaag	15	5	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:170077646G>A	ENST00000284637.9	-	3	919	c.578C>T	c.(577-579)cCg>cTg	p.P193L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	193	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGAGGTAACGGTTTAATAAT	0.423																																																	0													186	188	187					4																	170077646		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.578C>T	4.37:g.170077646G>A	ENSP00000284637:p.Pro193Leu		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.P193L	ENST00000284637.9	37	c.578	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719768	0.89205	.	.	ENSG00000154447	ENST00000284637	T	0.29917	1.55	5.76	5.76	0.90799	Src homology-3 domain (2);	0.137998	0.64402	D	0.000002	T	0.47525	0.1450	M	0.93197	3.39	0.80722	D	1	P	0.40230	0.708	B	0.33121	0.158	T	0.63808	-0.6553	10	0.66056	D	0.02	-22.5309	20.3242	0.98691	0.0:0.0:1.0:0.0	.	193	Q7Z6J0	SH3R1_HUMAN	L	193	ENSP00000284637:P193L	ENSP00000284637:P193L	P	-	2	0	SH3RF1	170314221	1.000000	0.71417	0.967000	0.41034	0.870000	0.49936	9.420000	0.97426	2.882000	0.98803	0.655000	0.94253	CCG	SH3RF1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.423	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	G	NM_020870		170077646	-1	no_errors	ENST00000284637	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170077646	G	A	170077646	3	1	74	1	0	0	0	0	1	0	0	0	14288	1116	39	2	2128	2	SH3RF1	4	170077646	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11029069	170077646	21076630	322	11017										
RWDD4A	201965	genome.wustl.edu	37	chr4	184572285	184572285	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctgctttacagctgatgatCtacaatgcacaacaaaaata	5	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:184572285C>G	ENST00000326397.5	-	4	488		c.e4-1		RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000510968.1_Splice_Site|RWDD4_ENST00000512740.1_Splice_Site|RWDD4_ENST00000327570.9_Splice_Site	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4											large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						AGCTGATGATCTACAATGCAC	0.363																																																	0													95	92	93					4																	184572285		2203	4300	6503	SO:0001630	splice_region_variant	201965			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.216-1G>C	4.37:g.184572285C>G			B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Splice_Site	SNP	-	e4-1	ENST00000326397.5	37	c.216-1	CCDS34111.1	4	.	.	.	.	.	.	.	.	.	.	C	8.841	0.942178	0.18281	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000512740	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2427	0.54553	0.0:0.9232:0.0:0.0768	.	.	.	.	.	-1	.	.	.	-	.	.	RWDD4	184809279	1.000000	0.71417	0.850000	0.33497	0.040000	0.13550	7.009000	0.76347	2.713000	0.92767	0.655000	0.94253	.	RWDD4	-	-		0.363	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	HGNC	protein_coding	OTTHUMT00000361499.2	C	NM_152682	Intron	184572285	-1	no_errors	ENST00000326397	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	184572285	C	G	184572285	5	3	74	1	0	0	0	0	0	0	1	0	13788	927	32	1	367	1	RWDD4A	4	184572285	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	14494639	184572285	6581991	323	11018										
PDLIM3	27295	genome.wustl.edu	37	chr4	186423481	186423481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tacagagtgaccgtgtcataGccctctgggggctttgtgcg	14	10	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:186423481G>A	ENST00000284770.5	-	8	1135	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	PDLIM3_ENST00000284771.6_Silent_p.G306G|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	354					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCGTGTCATAGCCCTCTGGGG	0.567																																																	0													100	95	97					4																	186423481		2203	4300	6503	SO:0001819	synonymous_variant	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.1062C>T	4.37:g.186423481G>A			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.G354	ENST00000284770.5	37	c.1062	CCDS3844.1	4																																																																																			PDLIM3	-	NULL		0.567	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	G	NM_014476		186423481	-1	no_errors	ENST00000284770	ensembl	human	known	70_37	silent	SNP	0.998	A	A	186423481	G	A	186423481	2	1	74	1	0	0	0	0	0	0	0	1	11705	958	34	4		4	PDLIM3	4	186423481	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1851196	186423481	4730795	324	11019										
TRIML1	339976	genome.wustl.edu	37	chr4	189060882	189060882	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttatcttgtcctgagtgctGgaggaccttggagggcccgc	14	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:189060882G>A	ENST00000332517.3	+	1	310	c.170G>A	c.(169-171)tGg>tAg	p.W57*	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	57					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W57*(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTGAGTGCTGGAGGACCTTG	0.602																																					Melanoma(31;213 1036 16579 23968 32372)												1	Substitution - Nonsense(1)	skin(1)											120	122	121					4																	189060882		2203	4300	6503	SO:0001587	stop_gained	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.170G>A	4.37:g.189060882G>A	ENSP00000327738:p.Trp57*		Q96BE5	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.W57*	ENST00000332517.3	37	c.170	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073192	0.76415	.	.	ENSG00000184108	ENST00000332517	.	.	.	5.59	4.74	0.60224	.	0.000000	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-16.8565	13.1649	0.59565	0.0823:0.0:0.9177:0.0	.	.	.	.	X	57	.	ENSP00000327738:W57X	W	+	2	0	TRIML1	189297876	0.996000	0.38824	1.000000	0.80357	0.065000	0.16274	2.065000	0.41442	2.804000	0.96469	0.655000	0.94253	TGG	TRIML1	-	NULL		0.602	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	G	NM_178556		189060882	1	no_errors	ENST00000332517	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	189060882	G	A	189060882	4	1	74	1	0	0	0	0	0	1	0	0	16581	1357	47	4	172	4	TRIML1	4	189060882	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2637401	189060882	2093394	325	11020										
PLEKHG4B	153478	genome.wustl.edu	37	chr5	171548	171548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgctggccatggacgccatcCgcggctgtgacgtaagtgcc	14	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:171548C>T	ENST00000283426.6	+	14	3021	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	991							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGACGCCATCCGCGGCTGTGA	0.647																																																	0													17	19	18					5																	171548		2199	4294	6493	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2971C>T	5.37:g.171548C>T	ENSP00000283426:p.Arg991Cys			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R991C	ENST00000283426.6	37	c.2971	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113829	0.56398	.	.	ENSG00000153404	ENST00000283426	T	0.34072	1.38	2.79	2.79	0.32731	Pleckstrin homology-type (1);	.	.	.	.	T	0.59609	0.2206	M	0.83774	2.66	0.47949	D	0.999555	D	0.89917	1.0	D	0.78314	0.991	T	0.64791	-0.6324	9	0.87932	D	0	.	10.9474	0.47308	0.0:1.0:0.0:0.0	.	991	Q96PX9	PKH4B_HUMAN	C	991	ENSP00000283426:R991C	ENSP00000283426:R991C	R	+	1	0	PLEKHG4B	224548	1.000000	0.71417	0.299000	0.25016	0.902000	0.53008	2.024000	0.41049	1.075000	0.40932	0.313000	0.20887	CGC	PLEKHG4B	-	NULL		0.647	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	C	NM_052909		171548	1	no_errors	ENST00000283426	ensembl	human	known	70_37	missense	SNP	1.000	T	T	171548	C	T	171548	3	4	74	1	0	0	0	0	1	0	0	0	12096	652	23	2	3025	2	PLEKHG4B	5	171548	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		171548	180743712	326	11021										
AHRR	57491	genome.wustl.edu	37	chr5	434786	434786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggccgaggtgaacagtcctGcacctgcagagctgctgagg	16	11	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:434786G>A	ENST00000505113.1	+	11	1987	c.1943G>A	c.(1942-1944)tGc>tAc	p.C648Y	AHRR_ENST00000506456.1_Missense_Mutation_p.C504Y|AHRR_ENST00000512529.1_Missense_Mutation_p.C494Y|AHRR_ENST00000316418.5_Missense_Mutation_p.C666Y	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	648	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GAACAGTCCTGCACCTGCAGA	0.667																																																	0													15	20	18					5																	434786		1971	4127	6098	SO:0001583	missense	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1943G>A	5.37:g.434786G>A	ENSP00000424601:p.Cys648Tyr		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.C666Y	ENST00000505113.1	37	c.1997	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157597	0.38119	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.24151	2.19;2.19;1.88;1.87	4.23	0.0628	0.14346	.	1.987320	0.02199	N	0.062129	T	0.32346	0.0826	L	0.32530	0.975	0.09310	N	1	B;D;D	0.71674	0.041;0.99;0.998	B;P;D	0.64877	0.015;0.797;0.93	T	0.49031	-0.8981	10	0.02654	T	1	.	7.6267	0.28216	0.4219:0.0:0.5781:0.0	.	504;648;666	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Y	648;666;494;504	ENSP00000424601:C648Y;ENSP00000323816:C666Y;ENSP00000424880:C494Y;ENSP00000426932:C504Y	ENSP00000323816:C666Y	C	+	2	0	AHRR	487786	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.020000	0.12525	-0.251000	0.09542	0.561000	0.74099	TGC	AHRR	-	NULL		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	G	NM_020731		434786	1	no_errors	ENST00000316418	ensembl	human	known	70_37	missense	SNP	0.000	A	A	434786	G	A	434786	3	1	74	1	0	0	0	0	1	0	0	0	417	1319	46	4	2043	4	AHRR	5	434786	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	263238	434786	180480474	327	11022										
SLC12A7	10723	genome.wustl.edu	37	chr5	1087130	1087130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcccagcgagcgcgatatcAtgtagtaggacccgccagct	12	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:1087130A>G	ENST00000264930.5	-	6	606	c.563T>C	c.(562-564)aTg>aCg	p.M188T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	188					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGCGATATCATGTAGTAGGA	0.642																																																	0													25	26	26					5																	1087130		2201	4298	6499	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.563T>C	5.37:g.1087130A>G	ENSP00000264930:p.Met188Thr		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.M188T	ENST00000264930.5	37	c.563	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931972	0.52866	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.98835	-5.17	3.93	3.93	0.45458	Amino acid permease domain (1);	0.043572	0.85682	D	0.000000	D	0.99177	0.9715	M	0.92923	3.36	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.99271	1.0893	10	0.87932	D	0	.	11.8847	0.52596	1.0:0.0:0.0:0.0	.	188	Q9Y666	S12A7_HUMAN	T	188	ENSP00000264930:M188T	ENSP00000264930:M188T	M	-	2	0	SLC12A7	1140130	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	8.241000	0.89816	1.562000	0.49601	0.459000	0.35465	ATG	SLC12A7	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	A	NM_006598		1087130	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1087130	A	G	1087130	3	3	74	1	0	0	0	0	1	0	0	0	14418	217	8	5	2764	5	SLC12A7	5	1087130	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	652344	1087130	179828130	328	11023										
LPCAT1	79888	genome.wustl.edu	37	chr5	1483582	1483582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaaccacaggctggacgggCgctccagggatgaatgcacc	13	12	0	1	rs374216703		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:1483582C>T	ENST00000283415.3	-	6	819	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	229					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCTGGACGGGCGCTCCAGGGA	0.562																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	82	81	81		687	-7.9	0	5		81	0,8600		0,0,4300	no	coding-synonymous	LPCAT1	NM_024830.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		229/535	1483582	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.687G>A	5.37:g.1483582C>T			Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A229	ENST00000283415.3	37	c.687	CCDS3864.1	5																																																																																			LPCAT1	-	smart_Plipid/glycerol_acylTrfase		0.562	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	C	NM_024830		1483582	-1	no_errors	ENST00000283415	ensembl	human	known	70_37	silent	SNP	0.232	T	T	1483582	C	T	1483582	2	4	74	1	0	0	0	0	0	0	0	1	8933	755	27	2		2	LPCAT1	5	1483582	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	396452	1483582	179431678	329	11024										
C5orf38	153571	genome.wustl.edu	37	chr5	2752434	2752434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtgcgcgcggctctcacttCcacggtcccggacctgctct	11	17	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:2752434C>T	ENST00000334000.3	+	1	173	c.56C>T	c.(55-57)tCc>tTc	p.S19F	IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000515640.1_Missense_Mutation_p.S19F|C5orf38_ENST00000457752.2_Missense_Mutation_p.S19F|C5orf38_ENST00000505778.1_Missense_Mutation_p.S19F|C5orf38_ENST00000397835.4_Missense_Mutation_p.S19F|IRX2_ENST00000502957.1_Intron|IRX2_ENST00000302057.5_5'Flank	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	19						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCTCTCACTTCCACGGTCCCG	0.716																																																	0													11	14	13					5																	2752434		2168	4241	6409	SO:0001583	missense	153571			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.56C>T	5.37:g.2752434C>T	ENSP00000334267:p.Ser19Phe			Missense_Mutation	SNP	NULL	p.S19F	ENST00000334000.3	37	c.56	CCDS34131.1	5	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609752	0.28623	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.02	2.02	0.26589	.	.	.	.	.	T	0.33818	0.0876	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.65684	0.937	T	0.11767	-1.0574	8	0.87932	D	0	.	7.5672	0.27885	0.0:1.0:0.0:0.0	.	19	Q86SI9	CEI_HUMAN	F	19	.	ENSP00000334267:S19F	S	+	2	0	C5orf38	2805434	0.007000	0.16637	0.011000	0.14972	0.014000	0.08584	2.148000	0.42235	1.451000	0.47736	0.462000	0.41574	TCC	C5orf38	-	NULL		0.716	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf38	HGNC	protein_coding	OTTHUMT00000365956.2	C	NM_178569		2752434	1	no_errors	ENST00000334000	ensembl	human	known	70_37	missense	SNP	0.118	T	T	2752434	C	T	2752434	3	4	74	1	0	0	0	0	1	0	0	0	2301	855	30	1	58	1	C5orf38	5	2752434	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1268852	2752434	178162826	330	11025										
FAM173B	134145	genome.wustl.edu	37	chr5	10239358	10239358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caccagggtgccacccacaaGcccagtaagtaagaaccccc	8	17	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:10239358G>A	ENST00000511437.1	-	2	139	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.L43F|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	43						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CCACCCACAAGCCCAGTAAGT	0.478																																																	0													99	105	103					5																	10239358		1986	4155	6141	SO:0001583	missense	134145				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.127C>T	5.37:g.10239358G>A	ENSP00000422338:p.Leu43Phe		B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	NULL	p.L43F	ENST00000511437.1	37	c.127	CCDS43301.1	5	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072801	0.36566	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19394	2.15;2.15	5.19	-1.08	0.09936	.	0.479567	0.22466	N	0.059686	T	0.11239	0.0274	L	0.34521	1.04	0.09310	N	1	B;P	0.34462	0.145;0.454	B;B	0.21546	0.034;0.035	T	0.13522	-1.0506	10	0.66056	D	0.02	-9.5003	7.4031	0.26975	0.0:0.5622:0.175:0.2628	.	43;43	E9PBZ4;Q6P4H8	.;F173B_HUMAN	F	43	ENSP00000422338:L43F;ENSP00000420876:L43F	ENSP00000424210:L43F	L	-	1	0	FAM173B	10292358	0.000000	0.05858	0.016000	0.15963	0.037000	0.13140	-0.101000	0.10973	-0.194000	0.10399	-0.262000	0.10625	CTT	FAM173B	-	NULL		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM173B	HGNC	protein_coding	OTTHUMT00000366048.2	G	NM_199133		10239358	-1	no_errors	ENST00000511437	ensembl	human	known	70_37	missense	SNP	0.056	A	A	10239358	G	A	10239358	3	1	74	1	0	0	0	0	1	0	0	0	5509	971	34	4	590	4	FAM173B	5	10239358	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7486924	10239358	170675902	331	11026										
CTNND2	1501	genome.wustl.edu	37	chr5	10992687	10992687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcggttgttgggagacacgcGcacaggggagatggagggcg	21	7	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:10992687G>A	ENST00000304623.8	-	19	3376	c.3187C>T	c.(3187-3189)Cgc>Tgc	p.R1063C	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.R630C|CTNND2_ENST00000511377.1_Missense_Mutation_p.R972C|CTNND2_ENST00000359640.2_Missense_Mutation_p.R1005C|CTNND2_ENST00000503622.1_Missense_Mutation_p.R726C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGACACGCGCACAGGGGAG	0.592																																																	0													94	87	89					5																	10992687		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3187C>T	5.37:g.10992687G>A	ENSP00000307134:p.Arg1063Cys		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1063C	ENST00000304623.8	37	c.3187	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034639	0.75617	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79653	-1.16;-1.24;-1.16;-1.29;-1.28	5.37	4.51	0.55191	.	0.172136	0.50627	N	0.000115	D	0.85898	0.5804	L	0.47716	1.5	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.16	D;D;B	0.77557	0.99;0.99;0.009	D	0.87125	0.2193	10	0.87932	D	0	-7.4389	14.0048	0.64456	0.0729:0.0:0.9271:0.0	.	726;655;1063	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	C	1063;1005;972;158;630;726	ENSP00000307134:R1063C;ENSP00000352661:R1005C;ENSP00000426510:R972C;ENSP00000391155:R630C;ENSP00000426887:R726C	ENSP00000307134:R1063C	R	-	1	0	CTNND2	11045687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	1.282000	0.44496	0.650000	0.86243	CGC	CTNND2	-	NULL		0.592	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	G	NM_001332		10992687	-1	no_errors	ENST00000304623	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10992687	G	A	10992687	3	1	74	1	0	0	0	0	1	0	0	0	4025	1087	38	2	506	2	CTNND2	5	10992687	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	753329	10992687	169922573	332	11027										
TRIO	7204	genome.wustl.edu	37	chr5	14291265	14291265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acacggcagcatctgcaccaGatgtggcatgtgaggaagct	13	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:14291265G>C	ENST00000344204.4	+	5	1005	c.981G>C	c.(979-981)caG>caC	p.Q327H	TRIO_ENST00000537187.1_Missense_Mutation_p.Q327H|TRIO_ENST00000509967.2_Missense_Mutation_p.Q278H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	327					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCTGCACCAGATGTGGCATG	0.567																																																	0													53	51	52					5																	14291265		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.981G>C	5.37:g.14291265G>C	ENSP00000339299:p.Gln327His		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q327H	ENST00000344204.4	37	c.981	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617710	0.66787	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.67698	-0.28;-0.28;-0.28	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.91635	0.999;0.979	D	0.83760	0.0214	10	0.51188	T	0.08	.	18.3833	0.90457	0.0:0.0:1.0:0.0	.	278;327	F5H228;O75962	.;TRIO_HUMAN	H	327;327;278;14	ENSP00000339299:Q327H;ENSP00000446348:Q327H;ENSP00000445592:Q278H	ENSP00000339299:Q327H	Q	+	3	2	TRIO	14344265	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.355000	0.79922	0.462000	0.41574	CAG	TRIO	-	smart_Spectrin/alpha-actinin		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14291265	1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14291265	G	C	14291265	3	2	74	1	0	0	0	0	1	0	0	0	16583	933	33	1	999	1	TRIO	5	14291265	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3298578	14291265	166623995	333	11028										
TRIO	7204	genome.wustl.edu	37	chr5	14316834	14316834	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggctgcagctgtgtgttttCcagcaggacgttcagcaggt	14	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:14316834C>T	ENST00000344204.4	+	9	1737	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	TRIO_ENST00000537187.1_Silent_p.F571F|TRIO_ENST00000509967.2_Silent_p.F522F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	571					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTGTGTTTTCCAGCAGGACG	0.527																																																	0													37	37	37					5																	14316834		2203	4300	6503	SO:0001819	synonymous_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1713C>T	5.37:g.14316834C>T			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.F571	ENST00000344204.4	37	c.1713	CCDS3883.1	5																																																																																			TRIO	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.527	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	C	NM_007118		14316834	1	no_errors	ENST00000344204	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14316834	C	T	14316834	2	4	74	1	0	0	0	0	0	0	0	1	16583	854	30	1		1	TRIO	5	14316834	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	25569	14316834	166598426	334	11029										
CDH10	1008	genome.wustl.edu	37	chr5	24511474	24511474	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccttcctgtgtgtccttctCagtcacgatgtcaaacatat	7	12	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:24511474C>G	ENST00000264463.4	-	6	1471	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E322K(1)|p.E322*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGTCCTTCTCAGTCACGATG	0.413										HNSCC(23;0.051)																																							2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(2)											271	216	234					5																	24511474		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.964G>C	5.37:g.24511474C>G	ENSP00000264463:p.Glu322Gln		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E322Q	ENST00000264463.4	37	c.964	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354713	0.41700	.	.	ENSG00000040731	ENST00000264463	T	0.54071	0.59	5.22	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.322834	0.32868	N	0.005554	T	0.43942	0.1270	L	0.38175	1.15	0.32727	N	0.509501	B	0.02656	0.0	B	0.11329	0.006	T	0.56637	-0.7946	10	0.72032	D	0.01	.	13.5546	0.61751	0.0:0.7677:0.2322:0.0	.	322	Q9Y6N8	CAD10_HUMAN	Q	322	ENSP00000264463:E322Q	ENSP00000264463:E322Q	E	-	1	0	CDH10	24547231	0.958000	0.32768	0.999000	0.59377	0.848000	0.48234	2.030000	0.41108	2.410000	0.81850	0.650000	0.86243	GAG	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24511474	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	0.995	G	G	24511474	C	G	24511474	3	3	74	1	0	0	0	0	1	0	0	0	3101	835	29	1	1430	1	CDH10	5	24511474	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	10194640	24511474	156403786	335	11030										
CDH6	1004	genome.wustl.edu	37	chr5	31267658	31267658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctctcaactccactatcaaaGaggactagtggtttcccagc	7	13	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:31267658G>A	ENST00000265071.2	+	2	343	c.78G>A	c.(76-78)aaG>aaA	p.K26K	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	26					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACTATCAAAGAGGACTAGTG	0.502																																																	0													97	100	99					5																	31267658		2203	4300	6503	SO:0001819	synonymous_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.78G>A	5.37:g.31267658G>A			A8K5H5|Q9BWS0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K26	ENST00000265071.2	37	c.78	CCDS3894.1	5																																																																																			CDH6	-	NULL		0.502	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	G	NM_004932		31267658	1	no_errors	ENST00000265071	ensembl	human	known	70_37	silent	SNP	0.862	A	A	31267658	G	A	31267658	2	1	74	1	0	0	0	0	0	0	0	1	3119	933	33	1		1	CDH6	5	31267658	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6756184	31267658	149647602	336	11031										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33527413	33527413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgggcacagaacatttcttCatggctttcagtgtctggca	11	9	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:33527413C>T	ENST00000504830.1	-	24	5000	c.4665G>A	c.(4663-4665)atG>atA	p.M1555I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.M1470I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1555	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AACATTTCTTCATGGCTTTCA	0.468										HNSCC(64;0.19)																																							0													168	153	158					5																	33527413		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4665G>A	5.37:g.33527413C>T	ENSP00000422554:p.Met1555Ile		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.M1555I	ENST00000504830.1	37	c.4665	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942727	0.53079	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58506	0.33;0.33	5.93	5.01	0.66863	PLAC (1);	0.146967	0.64402	D	0.000008	T	0.49012	0.1532	L	0.46157	1.445	0.80722	D	1	B;B	0.16396	0.017;0.005	B;B	0.10450	0.005;0.002	T	0.40403	-0.9565	10	0.34782	T	0.22	.	11.5862	0.50920	0.1775:0.8224:0.0:0.0	.	1470;1555	P58397-3;P58397	.;ATS12_HUMAN	I	1555;1470	ENSP00000422554:M1555I;ENSP00000344847:M1470I	ENSP00000344847:M1470I	M	-	3	0	ADAMTS12	33563170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.616000	0.46376	2.805000	0.96524	0.655000	0.94253	ATG	ADAMTS12	-	pfscan_PLAC		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33527413	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33527413	C	T	33527413	3	4	74	1	0	0	0	0	1	0	0	0	257	826	29	1	123	1	ADAMTS12	5	33527413	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2259755	33527413	147387847	337	11032										
DNAJC21	134218	genome.wustl.edu	37	chr5	34935831	34935831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaggtatgataatcatagaGaggccctacttaaaggtggg	12	6	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:34935831G>C	ENST00000342382.4	+	3	435	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	DNAJC21_ENST00000382021.2_Missense_Mutation_p.E70Q|DNAJC21_ENST00000303525.7_Missense_Mutation_p.E70Q			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	70					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAATCATAGAGAGGCCCTACT	0.348																																																	0													119	119	119					5																	34935831		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.208G>C	5.37:g.34935831G>C	ENSP00000343728:p.Glu70Gln		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E70Q	ENST00000342382.4	37	c.208	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902603	0.92035	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.73363	-0.74;-0.74;-0.74	5.62	5.62	0.85841	Heat shock protein DnaJ, N-terminal (2);	0.152907	0.64402	D	0.000018	D	0.83709	0.5313	L	0.58969	1.84	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.66497	0.944;0.934	T	0.81629	-0.0846	10	0.37606	T	0.19	-31.197	19.69	0.95996	0.0:0.0:1.0:0.0	.	70;70	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	Q	70	ENSP00000343728:E70Q;ENSP00000371451:E70Q;ENSP00000306289:E70Q	ENSP00000306289:E70Q	E	+	1	0	DNAJC21	34971588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.317000	0.96327	2.648000	0.89879	0.650000	0.86243	GAG	DNAJC21	-	superfamily_DnaJ_N,prints_Hsp_DnaJ		0.348	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	G	NM_194283		34935831	1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34935831	G	C	34935831	3	2	74	1	0	0	0	0	1	0	0	0	4650	943	33	1	218	1	DNAJC21	5	34935831	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1408418	34935831	145979429	338	11033										
NNT	23530	genome.wustl.edu	37	chr5	43644761	43644761	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcccagccgaatggccactCaggccagcaccctatattcc	8	17	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:43644761C>T	ENST00000264663.5	+	9	1368	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	NNT_ENST00000512996.2_Nonsense_Mutation_p.Q252*|NNT_ENST00000344920.4_Nonsense_Mutation_p.Q383*	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	383					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					AATGGCCACTCAGGCCAGCAC	0.418																																																	0													73	72	72					5																	43644761		2203	4300	6503	SO:0001587	stop_gained	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1147C>T	5.37:g.43644761C>T	ENSP00000264663:p.Gln383*		Q16796|Q2TB60|Q8N3V4	Nonsense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.Q383*	ENST00000264663.5	37	c.1147	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.658757	0.98903	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	.	.	.	5.55	5.55	0.83447	.	0.222920	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.3711	19.4893	0.95044	0.0:1.0:0.0:0.0	.	.	.	.	X	383;383;252	.	ENSP00000264663:Q383X	Q	+	1	0	NNT	43680518	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.429000	0.80309	2.619000	0.88677	0.655000	0.94253	CAG	NNT	-	tigrfam_NADP_transhyd_a		0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	C	NM_182977		43644761	1	no_errors	ENST00000264663	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	43644761	C	T	43644761	4	4	74	1	0	0	0	0	0	1	0	0	10534	827	29	1	1177	1	NNT	5	43644761	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	8708930	43644761	137270499	339	11034										
MAP3K1	4214	genome.wustl.edu	37	chr5	56184171	56184171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaacactccaatcatcttgCtttgatatttaaggtaattg	5	7	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:56184171C>T	ENST00000399503.3	+	19	4376	c.4376C>T	c.(4375-4377)gCt>gTt	p.A1459V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AATCATCTTGCTTTGATATTT	0.383																																																	0													113	104	107					5																	56184171		1847	4089	5936	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4376C>T	5.37:g.56184171C>T	ENSP00000382423:p.Ala1459Val			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.A1459V	ENST00000399503.3	37	c.4376	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.135099	0.94517	.	.	ENSG00000095015	ENST00000399503	T	0.65916	-0.18	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	N	0.26092	0.79	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.72947	-0.4137	10	0.66056	D	0.02	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	1459	Q13233	M3K1_HUMAN	V	1459	ENSP00000382423:A1459V	ENSP00000382423:A1459V	A	+	2	0	MAP3K1	56219928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.806000	0.75195	2.812000	0.96745	0.557000	0.71058	GCT	MAP3K1	-	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		0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	C	XM_042066		56184171	1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	56184171	C	T	56184171	3	4	74	1	0	0	0	0	1	0	0	0	9266	797	28	4	4450	4	MAP3K1	5	56184171	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	12539410	56184171	124731089	340	11035										
CMYA5	202333	genome.wustl.edu	37	chr5	79030249	79030249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaatggaagaattctttatTtctccaaaggatgaaaactg	7	5	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:79030249T>G	ENST00000446378.2	+	2	5692	c.5661T>G	c.(5659-5661)atT>atG	p.I1887M		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1887					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATTCTTTATTTCTCCAAAGG	0.393																																																	0													53	53	53					5																	79030249		1845	4092	5937	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5661T>G	5.37:g.79030249T>G	ENSP00000394770:p.Ile1887Met		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.I1887M	ENST00000446378.2	37	c.5661	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123662	0.77436	.	.	ENSG00000164309	ENST00000446378	T	0.06608	3.28	6.06	3.72	0.42706	.	0.267654	0.27031	N	0.021266	T	0.12178	0.0296	L	0.42245	1.32	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.07986	-1.0744	10	0.45353	T	0.12	.	7.4098	0.27011	0.0:0.1678:0.0:0.8322	.	1887	Q8N3K9	CMYA5_HUMAN	M	1887	ENSP00000394770:I1887M	ENSP00000394770:I1887M	I	+	3	3	CMYA5	79066005	0.063000	0.20901	0.001000	0.08648	0.757000	0.42996	2.254000	0.43214	0.553000	0.29044	0.528000	0.53228	ATT	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	T	NM_153610		79030249	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.002	G	G	79030249	T	G	79030249	3	3	74	1	0	0	0	0	1	0	0	0	3595	1829	64	5	5667	5	CMYA5	5	79030249	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	22846078	79030249	101885011	341	11036										
CMYA5	202333	genome.wustl.edu	37	chr5	79032670	79032670	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatatcacaaaagaaactgtGaaacaaggatttcaagaaaa	7	5	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:79032670G>A	ENST00000446378.2	+	2	8113	c.8082G>A	c.(8080-8082)gtG>gtA	p.V2694V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2694					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGAAACTGTGAAACAAGGAT	0.413																																																	0													46	45	45					5																	79032670		1830	4094	5924	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8082G>A	5.37:g.79032670G>A			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V2694	ENST00000446378.2	37	c.8082	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79032670	1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.020	A	A	79032670	G	A	79032670	2	1	74	1	0	0	0	0	0	0	0	1	3595	1277	45	1		1	CMYA5	5	79032670	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2421	79032670	101882590	342	11037										
VCAN	1462	genome.wustl.edu	37	chr5	82849201	82849201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agataccgagacatgtgactAtggctggcacaaattccaag	10	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:82849201A>G	ENST00000265077.3	+	11	10077	c.9512A>G	c.(9511-9513)tAt>tGt	p.Y3171C	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.Y2184C|VCAN_ENST00000502527.2_Missense_Mutation_p.Y430C|VCAN_ENST00000512590.2_Missense_Mutation_p.Y1369C|VCAN_ENST00000342785.4_Missense_Mutation_p.Y1417C|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3171					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACATGTGACTATGGCTGGCAC	0.502																																																	0													118	104	109					5																	82849201		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9512A>G	5.37:g.82849201A>G	ENSP00000265077:p.Tyr3171Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.Y3171C	ENST00000265077.3	37	c.9512	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658055	0.67586	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.56097	D	0.000030	T	0.29716	0.0742	N	0.25245	0.725	0.42035	D	0.99104	D;D;D;D	0.89917	1.0;0.999;0.981;1.0	D;D;D;D	0.91635	0.996;0.947;0.99;0.999	T	0.04440	-1.0951	10	0.44086	T	0.13	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	1417;430;2184;3171	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	C	3171;2184;1417;1369;430	ENSP00000265077:Y3171C;ENSP00000340062:Y2184C;ENSP00000342768:Y1417C;ENSP00000425959:Y1369C;ENSP00000421362:Y430C	ENSP00000265077:Y3171C	Y	+	2	0	VCAN	82884957	1.000000	0.71417	0.952000	0.39060	0.842000	0.47809	4.789000	0.62446	2.324000	0.78689	0.533000	0.62120	TAT	VCAN	-	superfamily_C-type_lectin_fold,smart_C-type_lectin		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	A	NM_004385		82849201	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.986	G	G	82849201	A	G	82849201	3	3	74	1	0	0	0	0	1	0	0	0	17169	449	16	5	9550	5	VCAN	5	82849201	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3816531	82849201	98066059	343	11038										
GPR98	84059	genome.wustl.edu	37	chr5	89947494	89947494	+	Missense_Mutation	SNP	T	T	G													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatgacccaaatggcattttTtctctggagcccatagacaa							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:89947494T>G	ENST00000405460.2	+	18	3459	c.3363T>G	c.(3361-3363)ttT>ttG	p.F1121L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1121	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGCATTTTTTCTCTGGAGC	0.333																																																	0													96	90	92					5																	89947494		1828	4082	5910	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3363T>G	5.37:g.89947494T>G	ENSP00000384582:p.Phe1121Leu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F1121L	ENST00000405460.2	37	c.3363	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.261199|4.261199	0.80246|0.80246	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|T	0.27402|0.27720	1.67|1.65	5.49|5.49	1.64|1.64	0.23874|0.23874	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.45458|0.45458	0.1343|0.1343	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.30119|0.30119	-0.9989|-0.9989	10|8	0.52906|0.24483	T|T	0.07|0.36	.|.	9.0076|9.0076	0.36122|0.36122	0.0:0.3601:0.0:0.6399|0.0:0.3601:0.0:0.6399	.|.	1121|.	Q8WXG9|.	GPR98_HUMAN|.	L|V	1121|710	ENSP00000384582:F1121L|ENSP00000424736:F710V	ENSP00000296619:F1121L|ENSP00000424736:F710V	F|F	+|+	3|1	2|0	GPR98|GPR98	89983250|89983250	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	1.680000|1.680000	0.37607|0.37607	0.043000|0.043000	0.15746|0.15746	0.482000|0.482000	0.46254|0.46254	TTT|TTC	GPR98	-	NULL		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		89947494	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89947494	T	G	89947494	3	3	74	1	0	0	0	0	1	0	0	0	6741	1838	64	5	3433	5	GPR98	5	89947494	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	7098293	89947494	90967766	344	11039	59	2								
GPR98	84059	genome.wustl.edu	37	chr5	89947501	89947501	+	Missense_Mutation	SNP	G	G	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaatggcattttttctctgGagcccatagacaaagcagtg							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:89947501G>A	ENST00000405460.2	+	18	3466	c.3370G>A	c.(3370-3372)Gag>Aag	p.E1124K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1124	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTTCTCTGGAGCCCATAGA	0.338																																																	0													94	88	90					5																	89947501		1828	4084	5912	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3370G>A	5.37:g.89947501G>A	ENSP00000384582:p.Glu1124Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1124K	ENST00000405460.2	37	c.3370	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.416154|5.416154	0.96092|0.96092	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.28666|.	1.6|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.046039|.	0.85682|.	D|.	0.000000|.	T|T	0.78175|0.78175	0.4242|0.4242	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.65874|.	0.939|.	T|T	0.77814|0.77814	-0.2448|-0.2448	10|5	0.62326|.	D|.	0.03|.	.|.	19.358|19.358	0.94422|0.94422	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1124|.	Q8WXG9|.	GPR98_HUMAN|.	K|E	1124|712	ENSP00000384582:E1124K|.	ENSP00000296619:E1124K|.	E|G	+|+	1|2	0|0	GPR98|GPR98	89983257|89983257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.365000|7.365000	0.79537|0.79537	2.565000|2.565000	0.86533|0.86533	0.591000|0.591000	0.81541|0.81541	GAG|GGA	GPR98	-	NULL		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89947501	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89947501	G	A	89947501	3	1	74	1	0	0	0	0	1	0	0	0	6741	1175	41	1	3440	1	GPR98	5	89947501	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7	89947501	90967759	345	11040	59	2								
GPR98	84059	genome.wustl.edu	37	chr5	90124775	90124775	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtcaggtaccacaggttgaAgtgtatttttttgtggaact	11	5	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:90124775A>C	ENST00000405460.2	+	77	16479	c.16383A>C	c.(16381-16383)gaA>gaC	p.E5461D	GPR98_ENST00000425867.2_Missense_Mutation_p.E1122D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5461	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACAGGTTGAAGTGTATTTTT	0.308																																																	0													65	61	62					5																	90124775		1830	4088	5918	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16383A>C	5.37:g.90124775A>C	ENSP00000384582:p.Glu5461Asp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E5461D	ENST00000405460.2	37	c.16383	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829166	0.50845	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.23147	1.92;1.92	5.71	5.71	0.89125	.	0.144593	0.64402	D	0.000009	T	0.27663	0.0680	M	0.63843	1.955	0.48040	D	0.999578	B;P;B	0.42871	0.091;0.792;0.148	B;B;B	0.40165	0.032;0.321;0.07	T	0.04065	-1.0980	9	.	.	.	.	11.0909	0.48115	0.9281:0.0:0.0719:0.0	.	1122;5461;1122	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	D	5461;5461;1122	ENSP00000384582:E5461D;ENSP00000392618:E1122D	.	E	+	3	2	GPR98	90160531	0.994000	0.37717	0.702000	0.30337	0.437000	0.31866	2.925000	0.48884	2.173000	0.68751	0.533000	0.62120	GAA	GPR98	-	NULL		0.308	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	A	NM_032119		90124775	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.979	C	C	90124775	A	C	90124775	3	2	74	1	0	0	0	0	1	0	0	0	6741	69	3	5	16689	5	GPR98	5	90124775	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	177274	90124775	90790485	346	11041										
ARSK	153642	genome.wustl.edu	37	chr5	94918715	94918715	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgtaacaggactaaagtcaGagtgatggaaagggattggc	14	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:94918715G>C	ENST00000380009.4	+	4	717	c.512G>C	c.(511-513)aGa>aCa	p.R171T		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	171					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ACTAAAGTCAGAGTGATGGAA	0.403																																																	0													148	142	144					5																	94918715		2203	4300	6503	SO:0001583	missense	153642				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.512G>C	5.37:g.94918715G>C	ENSP00000369346:p.Arg171Thr		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R171T	ENST00000380009.4	37	c.512	CCDS4073.1	5	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98602	-5.02	6.02	6.02	0.97574	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.042541	0.85682	D	0.000000	D	0.98776	0.9588	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99215	1.0877	10	0.52906	T	0.07	-30.5578	20.5373	0.99239	0.0:0.0:1.0:0.0	.	171	Q6UWY0	ARSK_HUMAN	T	171	ENSP00000369346:R171T	ENSP00000369346:R171T	R	+	2	0	ARSK	94944471	1.000000	0.71417	0.998000	0.56505	0.558000	0.35554	5.910000	0.69931	2.857000	0.98124	0.650000	0.86243	AGA	ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.403	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	G	NM_198150		94918715	1	no_errors	ENST00000380009	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94918715	G	C	94918715	3	2	74	1	0	0	0	0	1	0	0	0	997	942	33	1	526	1	ARSK	5	94918715	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4793940	94918715	85996545	347	11042										
CHD1	1105	genome.wustl.edu	37	chr5	98236756	98236756	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctgtctctttttttgtccAagaatcttctttccattttt	3	9	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:98236756A>C	ENST00000284049.3	-	6	767	c.618T>G	c.(616-618)ctT>ctG	p.L206L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	206					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTTTTGTCCAAGAATCTTCT	0.313																																																	0													84	80	81					5																	98236756		2203	4300	6503	SO:0001819	synonymous_variant	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.618T>G	5.37:g.98236756A>C			Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L206	ENST00000284049.3	37	c.618	CCDS34204.1	5																																																																																			CHD1	-	NULL		0.313	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	A	NM_001270		98236756	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	silent	SNP	0.986	C	C	98236756	A	C	98236756	2	2	74	1	0	0	0	0	0	0	0	1	3328	117	5	5		5	CHD1	5	98236756	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3318041	98236756	82678504	348	11043										
PPIP5K2	23262	genome.wustl.edu	37	chr5	102484962	102484962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaagaagtaagataccctgTtattctcaatgcacgagaga	8	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:102484962T>G	ENST00000358359.3	+	8	1360	c.851T>G	c.(850-852)gTt>gGt	p.V284G	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V284G|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.V284G	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	284					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGATACCCTGTTATTCTCAAT	0.408																																																	0													112	111	111					5																	102484962		2203	4300	6503	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.851T>G	5.37:g.102484962T>G	ENSP00000351126:p.Val284Gly		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.V284G	ENST00000358359.3	37	c.851		5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628187	0.87560	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.22539	1.97;3.1;1.95;1.97	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	T	0.53222	0.1783	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.98	T	0.63611	-0.6598	10	0.87932	D	0	.	15.0719	0.72042	0.0:0.0:0.0:1.0	.	206;284;284	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	G	284;206;284;284;284	ENSP00000313070:V284G;ENSP00000422525:V206G;ENSP00000351126:V284G;ENSP00000416016:V284G	ENSP00000313070:V284G	V	+	2	0	PPIP5K2	102512861	1.000000	0.71417	0.951000	0.38953	0.962000	0.63368	7.993000	0.88291	2.015000	0.59207	0.533000	0.62120	GTT	PPIP5K2	-	NULL		0.408	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	T	NM_015216		102484962	1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102484962	T	G	102484962	3	3	74	1	0	0	0	0	1	0	0	0	12360	1725	60	5	877	5	PPIP5K2	5	102484962	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4248206	102484962	78430298	349	11044										
NUDT12	83594	genome.wustl.edu	37	chr5	102895902	102895902	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttcagcagctgaacagtgAaactgagtaactatttcttg	8	9	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:102895902A>C	ENST00000230792.2	-	2	144	c.48T>G	c.(46-48)ttT>ttG	p.F16L	NUDT12_ENST00000507423.1_Missense_Mutation_p.F16L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	16					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CTGAACAGTGAAACTGAGTAA	0.373																																																	0													104	99	101					5																	102895902		2202	4300	6502	SO:0001583	missense	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.48T>G	5.37:g.102895902A>C	ENSP00000230792:p.Phe16Leu		B3KUW2|Q8TAL7	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F16L	ENST00000230792.2	37	c.48	CCDS4096.1	5	.	.	.	.	.	.	.	.	.	.	A	6.699	0.497658	0.12762	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09630	2.96;2.96	5.57	3.16	0.36331	Ankyrin repeat-containing domain (3);	0.150322	0.64402	N	0.000010	T	0.02848	0.0085	N	0.02751	-0.505	0.32427	N	0.548495	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.31806	-0.9930	10	0.07030	T	0.85	-12.4744	1.627	0.02725	0.5554:0.1562:0.1559:0.1324	.	16;16	E7EM93;Q9BQG2	.;NUD12_HUMAN	L	16	ENSP00000230792:F16L;ENSP00000424521:F16L	ENSP00000230792:F16L	F	-	3	2	NUDT12	102923801	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	1.510000	0.35790	0.382000	0.24878	0.528000	0.53228	TTT	NUDT12	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.373	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	HGNC	protein_coding	OTTHUMT00000250650.1	A	NM_031438		102895902	-1	no_errors	ENST00000230792	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102895902	A	C	102895902	3	2	74	1	0	0	0	0	1	0	0	0	10752	243	9	5	1364	5	NUDT12	5	102895902	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	410940	102895902	78019358	350	11045										
AQPEP	206338	genome.wustl.edu	37	chr5	115327936	115327936	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aactgacagaaaaaaagactCtgatctcctatgttgtctcc	6	10	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:115327936C>T	ENST00000357872.4	+	5	1346	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		408						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAAAAAGACTCTGATCTCCTA	0.383																																																	0													146	154	152					5																	115327936		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.1222C>T	5.37:g.115327936C>T			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L408	ENST00000357872.4	37	c.1222	CCDS4124.1	5																																																																																			AQPEP	-	pfam_Peptidase_M1_N		0.383	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115327936	1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	0.000	T	T	115327936	C	T	115327936	2	4	74	1	0	0	0	0	0	0	0	1	834	912	32	1		1	AQPEP	5	115327936	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	12432034	115327936	65587324	351	11046										
DMXL1	1657	genome.wustl.edu	37	chr5	118506868	118506868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtggctcttgaagtatcagTcacttttgagaatgtttctt	9	6	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:118506868T>C	ENST00000311085.8	+	24	6462	c.6382T>C	c.(6382-6384)Tca>Cca	p.S2128P	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2128P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2128										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGTATCAGTCACTTTTGAG	0.378																																																	0													78	80	80					5																	118506868		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6382T>C	5.37:g.118506868T>C	ENSP00000309690:p.Ser2128Pro			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2128P	ENST00000311085.8	37	c.6382	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594557	0.28445	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78246	-1.16;-1.16	5.5	5.5	0.81552	.	0.054172	0.85682	D	0.000000	T	0.68668	0.3026	L	0.31294	0.92	0.52099	D	0.999948	B;B	0.19200	0.034;0.011	B;B	0.18871	0.023;0.007	T	0.63976	-0.6515	10	0.35671	T	0.21	-14.3666	15.6222	0.76816	0.0:0.0:0.0:1.0	.	2128;2128	F5H269;Q9Y485	.;DMXL1_HUMAN	P	2128	ENSP00000309690:S2128P;ENSP00000439479:S2128P	ENSP00000309690:S2128P	S	+	1	0	DMXL1	118534767	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.970000	0.63742	2.087000	0.62958	0.460000	0.39030	TCA	DMXL1	-	NULL		0.378	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	T	NM_005509		118506868	1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118506868	T	C	118506868	3	2	74	1	0	0	0	0	1	0	0	0	4604	1667	58	5	6476	5	DMXL1	5	118506868	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3178932	118506868	62408392	352	11047										
SLC12A2	6558	genome.wustl.edu	37	chr5	127449946	127449946	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggtgtgatgcttttcattAgattgtcatggattgtgggt	15	3	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:127449946A>T	ENST00000262461.2	+	3	1108	c.919A>T	c.(919-921)Aga>Tga	p.R307*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.R307*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	307					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCTTTTCATTAGATTGTCATG	0.368																																																	0													339	319	326					5																	127449946		2203	4300	6503	SO:0001587	stop_gained	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.919A>T	5.37:g.127449946A>T	ENSP00000262461:p.Arg307*		Q8N713|Q8WWH7	Nonsense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R307*	ENST00000262461.2	37	c.919	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	A	37	6.599822	0.97697	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.54	1.53	0.23141	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7025	0.62618	0.5188:0.4811:0.0:0.0	.	.	.	.	X	307	.	ENSP00000262461:R307X	R	+	1	2	SLC12A2	127477845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.314000	0.33597	0.492000	0.27815	0.528000	0.53228	AGA	SLC12A2	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.368	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	A	NM_001046		127449946	1	no_errors	ENST00000262461	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	127449946	A	T	127449946	4	4	74	1	0	0	0	0	0	1	0	0	14413	412	15	5	929	5	SLC12A2	5	127449946	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	8943078	127449946	53465314	353	11048										
ADAMTS19	171019	genome.wustl.edu	37	chr5	129037112	129037112	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagaatggaccccttgttcaCgaacttgtggaaaaggaatg	11	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:129037112C>T	ENST00000274487.4	+	20	3113	c.2968C>T	c.(2968-2970)Cga>Tga	p.R990*	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	990	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCCTTGTTCACGAACTTGTGG	0.458																																																	0													115	108	111					5																	129037112		2203	4300	6503	SO:0001587	stop_gained	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2968C>T	5.37:g.129037112C>T	ENSP00000274487:p.Arg990*			Nonsense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R990*	ENST00000274487.4	37	c.2968	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.814639	0.98964	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.0	2.16	0.27623	.	0.167464	0.29106	N	0.013129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1836	0.20486	0.5053:0.3997:0.0:0.095	.	.	.	.	X	990	.	.	R	+	1	2	ADAMTS19	129065011	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.126000	0.31344	0.619000	0.30197	0.650000	0.86243	CGA	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	C	NM_133638		129037112	1	no_errors	ENST00000274487	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	129037112	C	T	129037112	4	4	74	1	0	0	0	0	0	1	0	0	264	528	19	2	3046	2	ADAMTS19	5	129037112	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1587166	129037112	51878148	354	11049										
SHROOM1	134549	genome.wustl.edu	37	chr5	132161042	132161042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatcttcaaacttagccagcGccggatgctggaactccaag	10	12	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:132161042G>A	ENST00000378679.3	-	4	1595	c.791C>T	c.(790-792)gCg>gTg	p.A264V	SHROOM1_ENST00000319854.3_Missense_Mutation_p.A264V|SHROOM1_ENST00000378676.1_Missense_Mutation_p.A264V|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	264					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTAGCCAGCGCCGGATGCTG	0.672																																																	0													25	26	26					5																	132161042		2200	4300	6500	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.791C>T	5.37:g.132161042G>A	ENSP00000367950:p.Ala264Val		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1	p.A264V	ENST00000378679.3	37	c.791	CCDS54902.1	5	.	.	.	.	.	.	.	.	.	.	G	6.817	0.519761	0.13005	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	3.52	-0.68	0.11346	.	0.404834	0.23167	N	0.051165	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.023	B;B	0.10450	0.005;0.002	T	0.20306	-1.0279	10	0.49607	T	0.09	1.8298	6.7308	0.23383	0.4962:0.0:0.5038:0.0	.	264;264	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	264	ENSP00000367950:A264V;ENSP00000324245:A264V;ENSP00000367947:A264V;ENSP00000388049:A264V	ENSP00000324245:A264V	A	-	2	0	SHROOM1	132188941	0.018000	0.18449	0.000000	0.03702	0.045000	0.14185	1.309000	0.33539	-0.299000	0.08909	0.561000	0.74099	GCG	SHROOM1	-	NULL		0.672	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	G	NM_133456		132161042	-1	no_errors	ENST00000378679	ensembl	human	known	70_37	missense	SNP	0.000	A	A	132161042	G	A	132161042	3	1	74	1	0	0	0	0	1	0	0	0	14323	1087	38	2	1795	2	SHROOM1	5	132161042	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3123930	132161042	48754218	355	11050										
TRPC7	57113	genome.wustl.edu	37	chr5	135561831	135561831	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctcattatgagataataaAatgatttaggacttggcact	7	5	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:135561831A>C	ENST00000513104.1	-	9	2435	c.2153T>G	c.(2152-2154)tTt>tGt	p.F718C	TRPC7_ENST00000355180.3_Missense_Mutation_p.F657C|TRPC7_ENST00000426057.2_Missense_Mutation_p.F602C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	718					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGATAATAAAATGATTTAGG	0.403																																																	0													64	59	61					5																	135561831		1863	4085	5948	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2153T>G	5.37:g.135561831A>C	ENSP00000426070:p.Phe718Cys		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F718C	ENST00000513104.1	37	c.2153	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.016059|4.016059	0.75161|0.75161	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.82711|.	-1.64;-1.64;-1.64|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71837|0.71837	0.3387|0.3387	M|M	0.66939|0.66939	2.045|2.045	0.48236|0.48236	D|D	0.999612|0.999612	P;P;B;P|.	0.50156|.	0.932;0.914;0.209;0.63|.	P;P;B;B|.	0.51193|.	0.662;0.525;0.325;0.438|.	T|T	0.71906|0.71906	-0.4451|-0.4451	10|5	0.87932|.	D|.	0|.	-11.0587|-11.0587	14.8563|14.8563	0.70341|0.70341	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	602;657;663;718|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	C|M	657;602;718;718|601;656;662	ENSP00000347312:F657C;ENSP00000441628:F602C;ENSP00000426070:F718C|.	ENSP00000265193:F718C|.	F|I	-|-	2|3	0|3	TRPC7|TRPC7	135589730|135589730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.047000|6.047000	0.71038|0.71038	2.094000|2.094000	0.63399|0.63399	0.482000|0.482000	0.46254|0.46254	TTT|ATT	TRPC7	-	tigrfam_TRP_channel		0.403	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	A	NM_020389		135561831	-1	no_errors	ENST00000513104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135561831	A	C	135561831	3	2	74	1	0	0	0	0	1	0	0	0	16615	14	1	5	451	5	TRPC7	5	135561831	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3400789	135561831	45353429	356	11051										
NME5	8382	genome.wustl.edu	37	chr5	137464199	137464199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ataaaacgtatttctctttcCgcagcagcaaagtcattact	5	10	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:137464199C>T	ENST00000265191.2	-	4	454	c.405G>A	c.(403-405)gcG>gcA	p.A135A	NME5_ENST00000508252.1_5'UTR	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	135					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTCTTTCCGCAGCAGCAA	0.393																																																	0													148	127	134					5																	137464199		2203	4300	6503	SO:0001819	synonymous_variant	8382			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.405G>A	5.37:g.137464199C>T			B2R5G7	Silent	SNP	pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase	p.A135	ENST00000265191.2	37	c.405	CCDS4197.1	5																																																																																			NME5	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase		0.393	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1	C	NM_003551		137464199	-1	no_errors	ENST00000265191	ensembl	human	known	70_37	silent	SNP	0.957	T	T	137464199	C	T	137464199	2	4	74	1	0	0	0	0	0	0	0	1	10518	639	23	2		2	NME5	5	137464199	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1902368	137464199	43451061	357	11052										
EGR1	1958	genome.wustl.edu	37	chr5	137803396	137803396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcataccaagatccacttgCggcagaaggacaagaaagca	11	10	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:137803396C>T	ENST00000239938.4	+	2	1530	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	420					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATCCACTTGCGGCAGAAGGA	0.567																																																	0													119	117	117					5																	137803396		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1258C>T	5.37:g.137803396C>T	ENSP00000239938:p.Arg420Trp			Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R420W	ENST00000239938.4	37	c.1258	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746902	0.30955	.	.	ENSG00000120738	ENST00000239938	T	0.52983	0.64	4.29	0.115	0.14643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	M	0.62723	1.935	0.50632	D	0.999885	D	0.89917	1.0	D	0.75484	0.986	T	0.58429	-0.7638	10	0.87932	D	0	-15.1894	9.85	0.41051	0.6625:0.2209:0.1166:0.0	.	420	P18146	EGR1_HUMAN	W	420	ENSP00000239938:R420W	ENSP00000239938:R420W	R	+	1	2	EGR1	137831295	0.999000	0.42202	0.967000	0.41034	0.991000	0.79684	1.148000	0.31614	-0.195000	0.10382	-0.223000	0.12442	CGG	EGR1	-	pfscan_Znf_C2H2		0.567	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	C	NM_001964		137803396	1	no_errors	ENST00000239938	ensembl	human	known	70_37	missense	SNP	0.892	T	T	137803396	C	T	137803396	3	4	74	1	0	0	0	0	1	0	0	0	4981	759	27	2	1264	2	EGR1	5	137803396	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	339197	137803396	43111864	358	11053										
CD14	929	genome.wustl.edu	37	chr5	140011947	140011947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgccatcagtccgcgttcgcCcagtccaggattgtcagaca	10	15	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140011947C>A	ENST00000302014.6	-	2	1251	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	CD14_ENST00000401743.2_Missense_Mutation_p.G208C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	208					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGTTCGCCCAGTCCAGGA	0.612																																																	0													56	61	59					5																	140011947		2203	4300	6503	SO:0001583	missense	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.622G>T	5.37:g.140011947C>A	ENSP00000304236:p.Gly208Cys		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.G208C	ENST00000302014.6	37	c.622	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093775	0.76870	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	T;T;T	0.32515	2.22;2.22;1.45	5.96	4.18	0.49190	.	0.483396	0.18619	N	0.135901	T	0.53899	0.1825	M	0.80982	2.52	0.29975	N	0.818226	D	0.89917	1.0	D	0.77557	0.99	T	0.54997	-0.8209	10	0.51188	T	0.08	-10.6125	9.5286	0.39180	0.0:0.8354:0.0:0.1646	.	208	P08571	CD14_HUMAN	C	208	ENSP00000304236:G208C;ENSP00000385519:G208C;ENSP00000426543:G208C	ENSP00000304236:G208C	G	-	1	0	CD14	139992131	0.036000	0.19791	0.989000	0.46669	0.997000	0.91878	0.795000	0.26972	1.542000	0.49330	0.655000	0.94253	GGC	CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.612	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	C	NM_000591		140011947	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	missense	SNP	0.657	A	A	140011947	C	A	140011947	3	1	74	1	0	0	0	0	1	0	0	0	2969	623	22	4	509	4	CD14	5	140011947	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2208551	140011947	40903313	359	11054										
PCDHB5	26167	genome.wustl.edu	37	chr5	140515550	140515550	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcagcccaaattcacacttTcatgttgctacgcataatcg	5	12	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140515550T>A	ENST00000231134.5	+	1	751	c.534T>A	c.(532-534)ttT>ttA	p.F178L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCACACTTTCATGTTGCTA	0.512																																																	0													93	95	94					5																	140515550		2203	4300	6503	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.534T>A	5.37:g.140515550T>A	ENSP00000231134:p.Phe178Leu		Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F178L	ENST00000231134.5	37	c.534	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019438	0.35606	.	.	ENSG00000113209	ENST00000231134	T	0.70749	-0.51	5.18	-1.83	0.07833	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83482	0.5264	H	0.97103	3.94	0.23515	N	0.997515	B	0.27823	0.19	B	0.42851	0.4	T	0.80732	-0.1251	9	0.87932	D	0	.	10.7406	0.46152	0.0:0.6992:0.0:0.3008	.	178	Q9Y5E4	PCDB5_HUMAN	L	178	ENSP00000231134:F178L	ENSP00000231134:F178L	F	+	3	2	PCDHB5	140495734	0.000000	0.05858	0.278000	0.24718	0.139000	0.21198	-0.622000	0.05553	-0.144000	0.11314	-0.388000	0.06559	TTT	PCDHB5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	T	NM_015669		140515550	1	no_errors	ENST00000231134	ensembl	human	known	70_37	missense	SNP	0.163	A	A	140515550	T	A	140515550	3	1	74	1	0	0	0	0	1	0	0	0	11569	1780	62	5	536	5	PCDHB5	5	140515550	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	503603	140515550	40399710	360	11055										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725511	140725511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccctgctggacagagacgcGctcaagcagagcctcgtggt	14	13	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140725511G>A	ENST00000253812.6	+	1	1911	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.701																																																	0													12	19	17					5																	140725511		2108	4222	6330	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1911G>A	5.37:g.140725511G>A			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A637	ENST00000253812.6	37	c.1911	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140725511	1	no_errors	ENST00000253812	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140725511	G	A	140725511	2	1	74	1	0	0	0	0	0	0	0	1	11579	1074	38	2		2	PCDHGA3	5	140725511	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	209961	140725511	40189749	361	11056										
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744600	140744600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccgtgttacggtcctcgacGcaaacgacaatgcgcccctg	10	15	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140744600G>A	ENST00000518069.1	+	1	703	c.703G>A	c.(703-705)Gca>Aca	p.A235T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCTCGACGCAAACGACAA	0.592																																																	0													82	83	83					5																	140744600		2081	4218	6299	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.703G>A	5.37:g.140744600G>A	ENSP00000429834:p.Ala235Thr		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A235T	ENST00000518069.1	37	c.703	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	7.217	0.596605	0.13875	.	.	ENSG00000253485	ENST00000518069	T	0.01767	4.65	5.4	4.53	0.55603	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	L	0.33624	1.015	0.09310	N	1	B;B	0.34313	0.448;0.181	B;B	0.25884	0.064;0.021	T	0.50189	-0.8857	9	0.34782	T	0.22	.	9.3049	0.37870	0.074:0.0:0.7832:0.1428	.	235;235	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	T	235	ENSP00000429834:A235T	ENSP00000429834:A235T	A	+	1	0	PCDHGA5	140724784	0.136000	0.22515	0.909000	0.35828	0.140000	0.21249	2.758000	0.47565	1.417000	0.47077	0.467000	0.42956	GCA	PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140744600	1	no_errors	ENST00000518069	ensembl	human	known	70_37	missense	SNP	0.180	A	A	140744600	G	A	140744600	3	1	74	1	0	0	0	0	1	0	0	0	11581	1087	38	2	705	2	PCDHGA5	5	140744600	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	19089	140744600	40170660	362	11057										
PCDHGA8	9708	genome.wustl.edu	37	chr5	140774212	140774212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcctaccgcctgctcaaggCcagcgagccgggactcttct	11	16	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140774212C>T	ENST00000398604.2	+	1	1832	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAAGGCCAGCGAGCCG	0.692																																																	0													23	29	27					5																	140774212		2172	4231	6403	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1832C>T	5.37:g.140774212C>T	ENSP00000381605:p.Ala611Val		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A611V	ENST00000398604.2	37	c.1832	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317644	0.60524	.	.	ENSG00000253767	ENST00000398604	T	0.51817	0.69	4.96	3.88	0.44766	Cadherin (4);Cadherin-like (1);	0.000000	0.31010	U	0.008437	T	0.55545	0.1927	M	0.76170	2.325	0.27669	N	0.946817	P;P	0.44044	0.825;0.791	P;B	0.50162	0.633;0.331	T	0.55366	-0.8152	10	0.87932	D	0	.	8.9488	0.35776	0.1502:0.76:0.0:0.0897	.	611;611	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	611	ENSP00000381605:A611V	ENSP00000381605:A611V	A	+	2	0	PCDHGA8	140754396	0.868000	0.29978	1.000000	0.80357	0.947000	0.59692	2.988000	0.49386	2.308000	0.77769	0.655000	0.94253	GCC	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140774212	1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140774212	C	T	140774212	3	4	74	1	0	0	0	0	1	0	0	0	11584	739	26	4	1834	4	PCDHGA8	5	140774212	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	29612	140774212	40141048	363	11058										
PCDHGA9	56107	genome.wustl.edu	37	chr5	140784703	140784703	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgcatctgctgcgggctacCagtgatgggttggctggtgt	16	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140784703C>A	ENST00000573521.1	+	1	2184	c.2184C>A	c.(2182-2184)acC>acA	p.T728T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	728					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCTACCAGTGATGGGT	0.587																																																	0													65	72	70					5																	140784703		2159	4284	6443	SO:0001819	synonymous_variant	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2184C>A	5.37:g.140784703C>A			A2RU65|Q9Y5C9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T728	ENST00000573521.1	37	c.2184	CCDS58981.1	5																																																																																			PCDHGA9	-	NULL		0.587	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140784703	1	no_errors	ENST00000573521	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140784703	C	A	140784703	2	1	74	1	0	0	0	0	0	0	0	1	11585	581	21	4		4	PCDHGA9	5	140784703	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	10491	140784703	40130557	364	11059										
RBM27	54439	genome.wustl.edu	37	chr5	145608539	145608539	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agccagcagaggaagaacgaGatggcagaaaaaagaaatat	12	5	0	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:145608539G>A	ENST00000265271.5	+	4	500	c.334G>A	c.(334-336)Gat>Aat	p.D112N	RBM27_ENST00000506502.1_Missense_Mutation_p.D112N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	112					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGAACGAGATGGCAGAAA	0.418																																																	0													127	122	124					5																	145608539		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.334G>A	5.37:g.145608539G>A	ENSP00000265271:p.Asp112Asn		Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D112N	ENST00000265271.5	37	c.334	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778083	0.49786	.	.	ENSG00000091009	ENST00000265271	T	0.46451	0.87	5.56	5.56	0.83823	.	0.144200	0.46758	D	0.000273	T	0.37461	0.1004	L	0.44542	1.39	0.54753	D	0.999981	B;B	0.26635	0.155;0.079	B;B	0.24269	0.029;0.052	T	0.17077	-1.0381	10	0.13470	T	0.59	-8.3894	19.5118	0.95144	0.0:0.0:1.0:0.0	.	112;112	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	112	ENSP00000265271:D112N	ENSP00000265271:D112N	D	+	1	0	RBM27	145588732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.217000	0.77982	2.609000	0.88269	0.591000	0.81541	GAT	RBM27	-	NULL		0.418	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145608539	1	no_errors	ENST00000265271	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145608539	G	A	145608539	3	1	74	1	0	0	0	0	1	0	0	0	13157	942	33	1	348	1	RBM27	5	145608539	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4823836	145608539	35306721	365	11060										
SPINK5	11005	genome.wustl.edu	37	chr5	147499874	147499875	+	Frame_Shift_Ins	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagggaaagggaagcagctgINSaaaaaaaaaagaaagaggat					rs565782662		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:147499874_147499875insA	ENST00000256084.7	+	26	2500_2501	c.2458_2459insA	c.(2458-2460)gaafs	p.E820fs	SPINK5_ENST00000359874.3_Frame_Shift_Ins_p.E820fs|SPINK5_ENST00000398454.1_Frame_Shift_Ins_p.E820fs	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	820	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K823fs*101(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCAGCTGAAAAAAAAAAG	0.391																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2468dupA	5.37:g.147499884_147499884dupA	ENSP00000256084:p.Glu820fs		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Frame_Shift_Ins	INS	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.K824fs	ENST00000256084.7	37	c.2458_2459	CCDS43382.1	5																																																																																			SPINK5	-	pfam_Kazal-type_dom,smart_Prot_inh_Kazal		0.391	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	NM_001127698		147499875	1	no_errors	ENST00000359874	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	A	A	147499875	-	A	147499874	7	5	74	1	0	1	1	0	0	0	0	0	15092	1291	45	0	2560	0	SPINK5	5	147499874	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	1891335	147499874	33415386	366	11061										
CSNK1A1	1452	genome.wustl.edu	37	chr5	148899919	148899919	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgtctctgtgtataaaattCtttgtatgcacatattcaat	5	6	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:148899919C>T	ENST00000377843.2	-	4	869	c.390G>A	c.(388-390)aaG>aaA	p.K130K	CSNK1A1_ENST00000504676.1_Silent_p.K41K|CSNK1A1_ENST00000261798.5_Silent_p.K130K|CSNK1A1_ENST00000515435.1_Silent_p.K41K|CSNK1A1_ENST00000515768.1_Silent_p.K130K	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTATAAAATTCTTTGTATGCA	0.318																																					Colon(5;64 69 1309 10383)												0													87	89	88					5																	148899919		2168	4279	6447	SO:0001819	synonymous_variant	1452			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.390G>A	5.37:g.148899919C>T			D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.K130	ENST00000377843.2	37	c.390	CCDS47303.1	5																																																																																			CSNK1A1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.318	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		C	NM_001892		148899919	-1	no_errors	ENST00000515768	ensembl	human	known	70_37	silent	SNP	1.000	T	T	148899919	C	T	148899919	2	4	74	1	0	0	0	0	0	0	0	1	3955	912	32	1		1	CSNK1A1	5	148899919	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1400045	148899919	32015341	367	11062										
ZNF300	91975	genome.wustl.edu	37	chr5	150275565	150275565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagaaggctttcccacattcGgtacactcatacggcttctc	7	14	2	1	rs558818519		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:150275565G>A	ENST00000274599.5	-	6	1656	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Silent_p.T376T|ZNF300_ENST00000394226.2_Silent_p.T412T|ZNF300_ENST00000446148.2_Silent_p.T428T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCACATTCGGTACACTCAT	0.453													g|||	1	0.000199681	0	0	5008	,	,		20183	0		0	False		,,,				2504	0.001																0													57	54	55					5																	150275565		2203	4299	6502	SO:0001819	synonymous_variant	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1236C>T	5.37:g.150275565G>A			A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T428	ENST00000274599.5	37	c.1284	CCDS4311.2	5																																																																																			ZNF300	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		G	NM_052860		150275565	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	silent	SNP	0.496	A	A	150275565	G	A	150275565	2	1	74	1	0	0	0	0	0	0	0	1	17861	1103	39	2		2	ZNF300	5	150275565	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1375646	150275565	30639695	368	11063										
BOD1	91272	genome.wustl.edu	37	chr5	173035296	173035296	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaaaggtgtctggcgtattCtaaaaaggaaagataatcat	9	5	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:173035296C>T	ENST00000311086.4	-	4	783		c.e4-1		BOD1_ENST00000471339.1_5'Flank|BOD1_ENST00000285908.5_Splice_Site|BOD1_ENST00000480951.1_Splice_Site	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1						mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						CTGGCGTATTCTAAAAAGGAA	0.313																																																	0													95	86	88					5																	173035296		1568	3582	5150	SO:0001630	splice_region_variant	91272			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.556-1G>A	5.37:g.173035296C>T			B4DXH8|Q9BTW1	Splice_Site	SNP	-	e4-1	ENST00000311086.4	37	c.558-1	CCDS4389.1	5	.	.	.	.	.	.	.	.	.	.	C	7.979	0.750777	0.15778	.	.	ENSG00000145919	ENST00000285908;ENST00000480951	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2959	0.49277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BOD1	172967902	0.799000	0.28903	0.718000	0.30602	0.247000	0.25773	2.908000	0.48750	2.366000	0.80165	0.563000	0.77884	.	BOD1	-	-		0.313	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1	HGNC	protein_coding	OTTHUMT00000252963.1	C	NM_138369	Intron	173035296	-1	no_errors	ENST00000311086	ensembl	human	known	70_37	splice_site	SNP	0.841	T	T	173035296	C	T	173035296	5	4	74	1	0	0	0	0	0	0	1	0	1483	927	32	1	31	1	BOD1	5	173035296	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	22759731	173035296	7879964	369	11064										
NSD1	64324	genome.wustl.edu	37	chr5	176687130	176687130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcggggctgccgaaatcatGagcatgttaatgttagctgg	15	7	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:176687130G>C	ENST00000439151.2	+	14	5152	c.5107G>C	c.(5107-5109)Gag>Cag	p.E1703Q	NSD1_ENST00000361032.4_Missense_Mutation_p.E1600Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E1434Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E1434Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1703					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCGAAATCATGAGCATGTTAA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													72	68	69					5																	176687130		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5107G>C	5.37:g.176687130G>C	ENSP00000395929:p.Glu1703Gln		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1703Q	ENST00000439151.2	37	c.5107	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887047	0.91814	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000004	D	0.95928	0.8674	L	0.39326	1.205	0.54753	D	0.99998	D;D;B	0.76494	0.999;0.995;0.398	D;D;B	0.74023	0.982;0.941;0.303	D	0.95797	0.8829	10	0.54805	T	0.06	.	19.783	0.96424	0.0:0.0:1.0:0.0	.	1434;1600;1703	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1434;1703;1434;1600	ENSP00000346111:E1434Q;ENSP00000395929:E1703Q;ENSP00000343209:E1434Q;ENSP00000354310:E1600Q	ENSP00000343209:E1434Q	E	+	1	0	NSD1	176619736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.752000	0.94435	0.467000	0.42956	GAG	NSD1	-	superfamily_Znf_FYVE_PHD		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176687130	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176687130	G	C	176687130	3	2	74	1	0	0	0	0	1	0	0	0	10693	1291	45	1	5157	1	NSD1	5	176687130	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3651834	176687130	4228130	370	11065										
TBC1D9B	23061	genome.wustl.edu	37	chr5	179306763	179306763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgggctggcgggctgctcCgacccctcctgaggagctgg	17	14	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:179306763C>T	ENST00000356834.3	-	8	1318	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	TBC1D9B_ENST00000355235.3_Silent_p.S427S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	427						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTGCTCCGACCCCTCCT	0.637																																																	0													23	29	27					5																	179306763		2202	4298	6500	SO:0001819	synonymous_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1281G>A	5.37:g.179306763C>T			D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S427	ENST00000356834.3	37	c.1281	CCDS43408.1	5																																																																																			TBC1D9B	-	NULL		0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	C	NM_015043		179306763	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	silent	SNP	0.000	T	T	179306763	C	T	179306763	2	4	74	1	0	0	0	0	0	0	0	1	15658	639	23	2		2	TBC1D9B	5	179306763	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2619633	179306763	1608497	371	11066										
FLT4	2324	genome.wustl.edu	37	chr5	180057000	180057000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggtctccccaggtggtctCgcactgcaggtacagggcat	13	13	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:180057000C>T	ENST00000261937.6	-	5	697	c.619G>A	c.(619-621)Gag>Aag	p.E207K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E207K|FLT4_ENST00000393347.3_Missense_Mutation_p.E207K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	207	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGTGGTCTCGCACTGCAGG	0.642																																					Colon(97;1075 1466 27033 27547 35871)												0													99	84	89					5																	180057000		2201	4297	6498	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.619G>A	5.37:g.180057000C>T	ENSP00000261937:p.Glu207Lys		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.E207K	ENST00000261937.6	37	c.619	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763696	0.49574	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04970	3.52;3.52;3.52	5.16	3.24	0.37175	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06962	0.0177	L	0.52364	1.645	0.37612	D	0.920967	P;P;B;B	0.47253	0.892;0.863;0.165;0.079	B;B;B;B	0.37015	0.173;0.239;0.063;0.027	T	0.46062	-0.9218	9	0.28530	T	0.3	.	14.545	0.68024	0.0:0.7224:0.2776:0.0	.	207;207;207;207	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	K	207;207;207;17	ENSP00000261937:E207K;ENSP00000377016:E207K;ENSP00000426057:E207K	ENSP00000261937:E207K	E	-	1	0	FLT4	179989606	0.688000	0.27680	0.981000	0.43875	0.926000	0.56050	1.601000	0.36773	1.303000	0.44873	-0.264000	0.10439	GAG	FLT4	-	prints_Tyr_kinase_VEGFR3_rcpt_N		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180057000	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	0.973	T	T	180057000	C	T	180057000	3	4	74	1	0	0	0	0	1	0	0	0	5962	893	31	1	3584	1	FLT4	5	180057000	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	750237	180057000	858260	372	11067										
WRNIP1	56897	genome.wustl.edu	37	chr6	2770393	2770393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaatgtgggacgatcactCtgattggggcaaccactgaa	13	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:2770393C>G	ENST00000380773.4	+	3	1263	c.1054C>G	c.(1054-1056)Ctg>Gtg	p.L352V	WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380769.4_Missense_Mutation_p.L132V|WRNIP1_ENST00000380771.4_Intron	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GACGATCACTCTGATTGGGGC	0.488																																																	0													152	126	135					6																	2770393		2203	4300	6503	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1054C>G	6.37:g.2770393C>G	ENSP00000370150:p.Leu352Val			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.L352V	ENST00000380773.4	37	c.1054	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694300	0.88735	.	.	ENSG00000124535	ENST00000380773;ENST00000380769	T;T	0.38240	1.15;1.15	6.06	5.19	0.71726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.064912	0.64402	D	0.000005	T	0.37183	0.0994	L	0.33668	1.02	0.80722	D	1	P	0.51351	0.944	D	0.64144	0.922	T	0.38134	-0.9675	10	0.87932	D	0	-18.1104	14.5665	0.68179	0.0:0.9304:0.0:0.0696	.	352	Q96S55	WRIP1_HUMAN	V	352;132	ENSP00000370150:L352V;ENSP00000370146:L132V	ENSP00000370146:L132V	L	+	1	2	WRNIP1	2715392	0.995000	0.38212	0.969000	0.41365	0.992000	0.81027	3.224000	0.51238	1.577000	0.49804	0.650000	0.86243	CTG	WRNIP1	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.488	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2770393	1	no_errors	ENST00000380773	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2770393	C	G	2770393	3	3	74	1	0	0	0	0	1	0	0	0	17434	912	32	1	1064	1	WRNIP1	6	2770393	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		2770393	168344674	373	11068										
BMP6	654	genome.wustl.edu	37	chr6	7727734	7727734	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgggcgccgcgcacccgctCaaccgcaagagccttctggc	12	19	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:7727734C>G	ENST00000283147.6	+	1	705	c.546C>G	c.(544-546)ctC>ctG	p.L182L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	182					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCACCCGCTCAACCGCAAGA	0.736																																																	0													7	9	8					6																	7727734		2072	4097	6169	SO:0001819	synonymous_variant	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.546C>G	6.37:g.7727734C>G			Q5TCP3	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L182	ENST00000283147.6	37	c.546	CCDS4503.1	6																																																																																			BMP6	-	pfam_TGF-b_N		0.736	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	C	NM_001718		7727734	1	no_errors	ENST00000283147	ensembl	human	known	70_37	silent	SNP	0.000	G	G	7727734	C	G	7727734	2	3	74	1	0	0	0	0	0	0	0	1	1465	813	29	1		1	BMP6	6	7727734	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4957341	7727734	163387333	374	11069										
BMP6	654	genome.wustl.edu	37	chr6	7861760	7861760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggctggaatttgacatcacgGccactagcaatctgtgggtt	12	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:7861760G>A	ENST00000283147.6	+	3	1093	c.934G>A	c.(934-936)Gcc>Acc	p.A312T		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	312					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGACATCACGGCCACTAGCAA	0.498																																																	0													137	135	136					6																	7861760		2203	4300	6503	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.934G>A	6.37:g.7861760G>A	ENSP00000283147:p.Ala312Thr		Q5TCP3	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.A312T	ENST00000283147.6	37	c.934	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.255888	0.95336	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.66099	-0.19	5.01	5.01	0.66863	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.60067	1.865	0.80722	D	1	P	0.46395	0.877	P	0.46885	0.53	T	0.63350	-0.6657	10	0.52906	T	0.07	.	18.5167	0.90937	0.0:0.0:1.0:0.0	.	312	P22004	BMP6_HUMAN	T	234;312;275	ENSP00000283147:A312T	ENSP00000283147:A312T	A	+	1	0	BMP6	7806759	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	9.428000	0.97476	2.595000	0.87683	0.655000	0.94253	GCC	BMP6	-	pfam_TGF-b_N		0.498	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	G	NM_001718		7861760	1	no_errors	ENST00000283147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7861760	G	A	7861760	3	1	74	1	0	0	0	0	1	0	0	0	1465	1203	42	4	944	4	BMP6	6	7861760	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	134026	7861760	163253307	375	11070										
NEDD9	4739	genome.wustl.edu	37	chr6	11213753	11213753	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccagaggcaggctgctcgtGactggaggcagtctcctgca	14	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:11213753G>A	ENST00000379446.5	-	2	386	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	NEDD9_ENST00000379433.5_Missense_Mutation_p.H74Y|NEDD9_ENST00000504387.1_Missense_Mutation_p.H74Y|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	74					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGCTGCTCGTGACTGGAGGCA	0.577																																																	0													119	112	114					6																	11213753		2203	4300	6503	SO:0001583	missense	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.220C>T	6.37:g.11213753G>A	ENSP00000368759:p.His74Tyr		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.H74Y	ENST00000379446.5	37	c.220	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	3.786	-0.044663	0.07452	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	T;T;T	0.21734	1.99;1.99;1.99	5.95	5.95	0.96441	Src homology-3 domain (1);	0.284609	0.40728	N	0.001036	T	0.06735	0.0172	L	0.40543	1.245	0.36269	D	0.85505	B;P;B	0.44521	0.059;0.837;0.13	B;B;B	0.32022	0.017;0.139;0.036	T	0.10800	-1.0614	10	0.02654	T	1	-8.2959	20.3931	0.98965	0.0:0.0:1.0:0.0	.	74;74;74	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	Y	74	ENSP00000368759:H74Y;ENSP00000422871:H74Y;ENSP00000368745:H74Y	ENSP00000368745:H74Y	H	-	1	0	NEDD9	11321739	1.000000	0.71417	0.234000	0.24042	0.026000	0.11368	9.441000	0.97557	2.824000	0.97209	0.655000	0.94253	CAC	NEDD9	-	superfamily_SH3_domain		0.577	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	G	NM_006403		11213753	-1	no_errors	ENST00000379446	ensembl	human	known	70_37	missense	SNP	0.882	A	A	11213753	G	A	11213753	3	1	74	1	0	0	0	0	1	0	0	0	10337	1290	45	1	2378	1	NEDD9	6	11213753	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3351993	11213753	159901314	376	11071										
GFOD1	54438	genome.wustl.edu	37	chr6	13365254	13365254	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgcgcaggtagggcgagggGatgtcgctgaaggccttctc	17	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:13365254G>T	ENST00000379287.3	-	2	1558	c.894C>A	c.(892-894)atC>atA	p.I298I	GFOD1_ENST00000379284.1_Silent_p.I195I	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	298						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AGGGCGAGGGGATGTCGCTGA	0.692																																																	0													50	52	51					6																	13365254		2203	4300	6503	SO:0001819	synonymous_variant	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.894C>A	6.37:g.13365254G>T			A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	pfam_Oxidoreductase_N,pfam_OxRdtase_C	p.I298	ENST00000379287.3	37	c.894	CCDS4524.1	6																																																																																			GFOD1	-	NULL		0.692	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD1	HGNC	protein_coding	OTTHUMT00000039902.1	G	NM_018988		13365254	-1	no_errors	ENST00000379287	ensembl	human	known	70_37	silent	SNP	1.000	T	T	13365254	G	T	13365254	2	4	74	1	0	0	0	0	0	0	0	1	6362	1164	41	3		3	GFOD1	6	13365254	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2151501	13365254	157749813	377	11072										
NUP153	9972	genome.wustl.edu	37	chr6	17665574	17665574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgttgctatggaaactggctTtggggtcataagtctctgaa	12	6	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:17665574T>C	ENST00000262077.2	-	9	1110	c.1111A>G	c.(1111-1113)Aag>Gag	p.K371E	NUP153_ENST00000537253.1_Missense_Mutation_p.K371E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	371					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAAACTGGCTTTGGGGTCATA	0.338																																																	0													114	109	111					6																	17665574		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1111A>G	6.37:g.17665574T>C	ENSP00000262077:p.Lys371Glu		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.K371E	ENST00000262077.2	37	c.1111	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965183	0.74131	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.33216	1.42;1.42	4.95	4.95	0.65309	Nucleoporin, Nup153-like (1);	0.000000	0.49305	D	0.000157	T	0.44953	0.1318	M	0.68317	2.08	0.37182	D	0.903527	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.87578	0.998;0.937;0.991	T	0.50575	-0.8812	10	0.59425	D	0.04	-11.4753	14.9313	0.70916	0.0:0.0:0.0:1.0	.	371;393;371	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	E	371;393;371	ENSP00000262077:K371E;ENSP00000444029:K371E	ENSP00000262077:K371E	K	-	1	0	NUP153	17773553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.532000	0.53553	1.984000	0.57885	0.460000	0.39030	AAG	NUP153	-	pfam_Nucleoporin_Nup153		0.338	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	T			17665574	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17665574	T	C	17665574	3	2	74	1	0	0	0	0	1	0	0	0	10779	1850	64	5	3372	5	NUP153	6	17665574	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4300320	17665574	153449493	378	11073										
HIST1H2AE	3012	genome.wustl.edu	37	chr6	26217440	26217440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaataagaagacccgcatcAtcccgcgccacctgcagcta	7	16	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:26217440A>G	ENST00000303910.2	+	1	276	c.238A>G	c.(238-240)Atc>Gtc	p.I80V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	80						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GACCCGCATCATCCCGCGCCA	0.607																																																	0													71	70	70					6																	26217440		2203	4300	6503	SO:0001583	missense	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.238A>G	6.37:g.26217440A>G	ENSP00000303373:p.Ile80Val		P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.I80V	ENST00000303910.2	37	c.238	CCDS4595.1	6	.	.	.	.	.	.	.	.	.	.	.	16.49	3.138668	0.56936	.	.	ENSG00000168274	ENST00000303910	T	0.66815	-0.23	4.07	4.07	0.47477	.	0.000000	0.34555	U	0.003879	T	0.55321	0.1913	L	0.35644	1.08	0.39287	D	0.964679	.	.	.	.	.	.	T	0.62048	-0.6936	8	0.52906	T	0.07	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	V	80	ENSP00000303373:I80V	ENSP00000303373:I80V	I	+	1	0	HIST1H2AE	26325419	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.075000	0.76798	1.834000	0.53371	0.528000	0.53228	ATC	HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.607	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	A	NM_021052		26217440	1	no_errors	ENST00000303910	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26217440	A	G	26217440	3	3	74	1	0	0	0	0	1	0	0	0	7152	217	8	5	240	5	HIST1H2AE	6	26217440	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	8551866	26217440	144897627	379	11074										
HIST1H2AK	8330	genome.wustl.edu	37	chr6	27805844	27805844	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagcagcttgttgagctcctCgtcgttgcggatggccagct	13	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:27805844C>A	ENST00000330180.2	-	1	273	c.274G>T	c.(274-276)Gag>Tag	p.E92*	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	92						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TTGAGCTCCTCGTCGTTGCGG	0.607																																																	0													127	128	127					6																	27805844		2203	4300	6503	SO:0001587	stop_gained	8330			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.274G>T	6.37:g.27805844C>A	ENSP00000330307:p.Glu92*		P02261|Q2M1R2|Q76PA6	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E92*	ENST00000330180.2	37	c.274	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	23.3	4.403547	0.83230	.	.	ENSG00000184348	ENST00000330180	.	.	.	3.62	3.62	0.41486	.	0.000000	0.31381	U	0.007755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5107	0.75779	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000330307:E92X	E	-	1	0	HIST1H2AK	27913823	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.800000	0.62524	2.295000	0.77249	0.555000	0.69702	GAG	HIST1H2AK	-	superfamily_Histone-fold,smart_Histone_H2A		0.607	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	C	NM_003510		27805844	-1	no_errors	ENST00000330180	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27805844	C	A	27805844	4	1	74	1	0	0	0	0	0	1	0	0	7157	893	31	3	122	3	HIST1H2AK	6	27805844	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1588404	27805844	143309223	380	11075										
HSPA1B	3304	genome.wustl.edu	37	chr6	31795748	31795748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atggccaaagccgcggcgatCggcatcgacctgggcaccac	13	15	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:31795748C>G	ENST00000375650.3	+	1	237	c.21C>G	c.(19-21)atC>atG	p.I7M	HSPA1B_ENST00000545241.1_Missense_Mutation_p.I7M	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	7				I -> V (in Ref. 2; AAA52697 and 10; CAA28381). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CCGCGGCGATCGGCATCGACC	0.667																																																	0													41	43	43					6																	31795748		2203	4299	6502	SO:0001583	missense	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.21C>G	6.37:g.31795748C>G	ENSP00000364801:p.Ile7Met		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I7M	ENST00000375650.3	37	c.21	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889238	0.52014	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241;ENST00000418382	T;T	0.05717	3.4;3.4	4.66	2.81	0.32909	.	0.000000	0.40908	D	0.000986	T	0.04679	0.0127	.	.	.	0.26432	N	0.97591	.	.	.	.	.	.	T	0.12451	-1.0547	7	0.87932	D	0	-30.5956	9.9461	0.41609	0.0:0.8149:0.0:0.1851	.	.	.	.	M	74;7;7;7;7	ENSP00000364801:I7M;ENSP00000442789:I7M	ENSP00000364801:I7M	I	+	3	3	HSPA1B	31903727	0.982000	0.34865	1.000000	0.80357	0.970000	0.65996	0.230000	0.17852	1.063000	0.40649	0.467000	0.42956	ATC	HSPA1B	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.667	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	C			31795748	1	no_errors	ENST00000375650	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31795748	C	G	31795748	3	3	74	1	0	0	0	0	1	0	0	0	7429	874	31	1	23	1	HSPA1B	6	31795748	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3989904	31795748	139319319	381	11076										
NOTCH4	4855	genome.wustl.edu	37	chr6	32169256	32169256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgttgtggaagtgatcatgGcagtactggtcataggctgg	15	7	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:32169256G>A	ENST00000375023.3	-	22	3915	c.3777C>T	c.(3775-3777)tgC>tgT	p.C1259C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1259					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C1259*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGTGATCATGGCAGTACTGGT	0.537																																																	1	Substitution - Nonsense(1)	lung(1)											73	73	73					6																	32169256		1508	2709	4217	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3777C>T	6.37:g.32169256G>A			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.C1259	ENST00000375023.3	37	c.3777	CCDS34420.1	6																																																																																			NOTCH4	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom		0.537	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	G			32169256	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32169256	G	A	32169256	2	1	74	1	0	0	0	0	0	0	0	1	10575	1195	42	4		4	NOTCH4	6	32169256	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	373508	32169256	138945811	382	11077										
PSMB8	5696	genome.wustl.edu	37	chr6	32809936	32809936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatcccagccacagatcataCtgcccatagagaggcccatg	8	14	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:32809936C>A	ENST00000374882.3	-	4	562	c.512G>T	c.(511-513)aGt>aTt	p.S171I	PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000374881.2_Missense_Mutation_p.S167I|PSMB8_ENST00000395339.3_Missense_Mutation_p.S147I|TAPSAR1_ENST00000453426.1_lincRNA	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	ACAGATCATACTGCCCATAGA	0.507																																					NSCLC(48;53 1172 10859 13624 22883)												0													136	118	125					6																	32809936		1511	2709	4220	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.512G>T	6.37:g.32809936C>A	ENSP00000364016:p.Ser171Ile		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.S171I	ENST00000374882.3	37	c.512	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266586	0.59540	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.20200	2.09;2.09;2.09	5.08	5.08	0.68730	.	0.039005	0.85682	D	0.000000	T	0.08268	0.0206	N	0.16567	0.415	0.80722	D	1	B;B	0.33477	0.41;0.413	B;B	0.34301	0.179;0.177	T	0.12993	-1.0526	10	0.49607	T	0.09	-24.0755	15.9911	0.80206	0.0:1.0:0.0:0.0	.	167;171	P28062-2;P28062	.;PSB8_HUMAN	I	147;171;167	ENSP00000378748:S147I;ENSP00000364016:S171I;ENSP00000364015:S167I	ENSP00000364015:S167I	S	-	2	0	PSMB8	32917914	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	3.183000	0.50918	2.358000	0.79984	0.643000	0.83706	AGT	PSMB8	-	pfam_Proteasome_sua/b		0.507	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	C	NM_148919		32809936	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32809936	C	A	32809936	3	1	74	1	0	0	0	0	1	0	0	0	12710	565	20	4	330	4	PSMB8	6	32809936	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	640680	32809936	138305131	383	11078										
RXRB	6257	genome.wustl.edu	37	chr6	33163791	33163791	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtttgtcagctgcctgacagAtgttagtcacagggtcattt	11	8	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:33163791A>C	ENST00000374680.3	-	6	1227	c.1016T>G	c.(1015-1017)aTc>aGc	p.I339S	RXRB_ENST00000544186.1_Missense_Mutation_p.I149S|RXRB_ENST00000374685.4_Missense_Mutation_p.I339S	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	339	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCCTGACAGATGTTAGTCAC	0.507																																																	0													104	98	100					6																	33163791		1510	2708	4218	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1016T>G	6.37:g.33163791A>C	ENSP00000363812:p.Ile339Ser		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.I339S	ENST00000374680.3	37	c.1016	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456185	0.63401	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	T;T;T	0.72167	-0.63;-0.63;-0.63	5.24	4.09	0.47781	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.053218	0.64402	D	0.000001	T	0.79879	0.4522	M	0.86420	2.815	0.80722	D	1	D;P;D;D;D	0.89917	0.985;0.948;1.0;1.0;1.0	P;P;D;D;D	0.91635	0.898;0.757;0.999;0.999;0.999	T	0.82575	-0.0389	10	0.87932	D	0	.	8.9697	0.35899	0.9131:0.0:0.0869:0.0	.	222;149;339;379;339	B7Z6X3;E9PK95;Q5STP9;Q59G65;P28702	.;.;.;.;RXRB_HUMAN	S	339;339;149	ENSP00000363817:I339S;ENSP00000363812:I339S;ENSP00000439222:I149S	ENSP00000363812:I339S	I	-	2	0	RXRB	33271769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	1.025000	0.39708	0.448000	0.29417	ATC	RXRB	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.507	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	A	NM_021976		33163791	-1	no_errors	ENST00000374680	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33163791	A	C	33163791	3	2	74	1	0	0	0	0	1	0	0	0	13794	333	12	5	605	5	RXRB	6	33163791	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	353855	33163791	137951276	384	11079										
BRPF3	27154	genome.wustl.edu	37	chr6	36172556	36172556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccctcttatccggcgcttgCactcccatctgcagtcccaa	6	18	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:36172556C>A	ENST00000357641.6	+	3	1823	c.1570C>A	c.(1570-1572)Cac>Aac	p.H524N	BRPF3_ENST00000534400.1_Missense_Mutation_p.H524N|BRPF3_ENST00000443324.2_Missense_Mutation_p.H524N|BRPF3_ENST00000534694.1_Missense_Mutation_p.H524N|BRPF3_ENST00000339717.7_Missense_Mutation_p.H524N|BRPF3_ENST00000543502.1_Missense_Mutation_p.H524N	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	524					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGGCGCTTGCACTCCCATCT	0.517																																																	0													114	106	109					6																	36172556		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1570C>A	6.37:g.36172556C>A	ENSP00000350267:p.His524Asn		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.H524N	ENST00000357641.6	37	c.1570	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663463	0.67700	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.16743	2.51;2.47;2.47;2.47;2.47;2.32	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.61036	1.89	0.80722	D	1	P;P;D	0.57257	0.948;0.948;0.979	P;P;P	0.51777	0.588;0.588;0.679	T	0.00967	-1.1497	10	0.54805	T	0.06	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	524;524;524	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	N	524;524;524;524;524;524;70	ENSP00000350267:H524N;ENSP00000345419:H524N;ENSP00000434501:H524N;ENSP00000445352:H524N;ENSP00000387368:H524N;ENSP00000436504:H524N	ENSP00000345419:H524N	H	+	1	0	BRPF3	36280534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.541000	0.85698	0.557000	0.71058	CAC	BRPF3	-	NULL		0.517	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	C	NM_015695		36172556	1	no_errors	ENST00000357641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36172556	C	A	36172556	3	1	74	1	0	0	0	0	1	0	0	0	1524	710	25	4	1576	4	BRPF3	6	36172556	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3008765	36172556	134942511	385	11080										
MDGA1	266727	genome.wustl.edu	37	chr6	37619916	37619916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctctaggctgctggtgactgCgggcagctcaggatcattgc	14	11	3	1	rs373379741		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:37619916C>T	ENST00000434837.3	-	7	2361	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	MDGA1_ENST00000505425.1_Missense_Mutation_p.A395T|MDGA1_ENST00000297153.7_Missense_Mutation_p.A395T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	395	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGTGACTGCGGGCAGCTCA	0.602																																																	0								C	THR/ALA	2,4066		0,2,2032	56	60	59		1183	4.4	0.6	6		59	2,8352		0,2,4175	no	missense	MDGA1	NM_153487.3	58	0,4,6207	TT,TC,CC		0.0239,0.0492,0.0322	benign	395/956	37619916	4,12418	2034	4177	6211	SO:0001583	missense	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1183G>A	6.37:g.37619916C>T	ENSP00000402584:p.Ala395Thr		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.A395T	ENST00000434837.3	37	c.1183	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025404	0.75390	4.92E-4	2.39E-4	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.54279	0.58;0.73;0.59	5.36	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134588	0.33753	N	0.004596	T	0.30665	0.0772	L	0.29908	0.895	0.44402	D	0.997317	D	0.53151	0.958	B	0.43889	0.435	T	0.16364	-1.0405	10	0.49607	T	0.09	.	12.5893	0.56434	0.0:0.6721:0.3279:0.0	.	395	Q8NFP4	MDGA1_HUMAN	T	395	ENSP00000402584:A395T;ENSP00000297153:A395T;ENSP00000422042:A395T	ENSP00000297153:A395T	A	-	1	0	MDGA1	37727894	1.000000	0.71417	0.632000	0.29296	0.753000	0.42808	5.758000	0.68776	2.524000	0.85096	0.655000	0.94253	GCA	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.602	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	C			37619916	-1	no_errors	ENST00000297153	ensembl	human	known	70_37	missense	SNP	0.996	T	T	37619916	C	T	37619916	3	4	74	1	0	0	0	0	1	0	0	0	9429	768	27	2	1728	2	MDGA1	6	37619916	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1447360	37619916	133495151	386	11081										
GLO1	2739	genome.wustl.edu	37	chr6	38645133	38645133	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccagtagccatcaggatcttGaataaatgccaggcctttca	8	11	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:38645133G>C	ENST00000373365.4	-	6	579	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	165					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCAGGATCTTGAATAAATGCC	0.313																																																	0													74	76	75					6																	38645133		2203	4300	6503	SO:0001583	missense	2739			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.493C>G	6.37:g.38645133G>C	ENSP00000362463:p.Gln165Glu		B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1	p.Q165E	ENST00000373365.4	37	c.493	CCDS4837.1	6	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432960	0.83776	.	.	ENSG00000124767	ENST00000373365	T	0.68025	-0.3	5.92	5.92	0.95590	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	N	0.20766	0.605	0.80722	D	1	P	0.39216	0.664	B	0.43990	0.438	T	0.61417	-0.7067	10	0.72032	D	0.01	-36.841	20.3206	0.98668	0.0:0.0:1.0:0.0	.	165	Q04760	LGUL_HUMAN	E	165	ENSP00000362463:Q165E	ENSP00000362463:Q165E	Q	-	1	0	GLO1	38753111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.844000	0.75390	2.809000	0.96659	0.655000	0.94253	CAA	GLO1	-	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1		0.313	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLO1	HGNC	protein_coding	OTTHUMT00000040438.2	G	NM_006708		38645133	-1	no_errors	ENST00000373365	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38645133	G	C	38645133	3	2	74	1	0	0	0	0	1	0	0	0	6468	1299	45	1	65	1	GLO1	6	38645133	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1025217	38645133	132469934	387	11082										
KCNK5	8645	genome.wustl.edu	37	chr6	39159517	39159517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtacagggcgtggtagttggCgctggggttcacacctgagc	17	9	1	1	rs376599617		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:39159517C>T	ENST00000359534.3	-	5	987	c.649G>A	c.(649-651)Gcc>Acc	p.A217T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	217					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGTAGTTGGCGCTGGGGTTC	0.572																																																	0													76	86	82					6																	39159517		2201	4300	6501	SO:0001583	missense	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.649G>A	6.37:g.39159517C>T	ENSP00000352527:p.Ala217Thr		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.A217T	ENST00000359534.3	37	c.649	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466944	0.43839	.	.	ENSG00000164626	ENST00000359534	T	0.21031	2.03	5.57	5.57	0.84162	Ion transport 2 (1);	0.504958	0.22978	N	0.053359	T	0.07908	0.0198	L	0.41632	1.29	0.42167	D	0.991622	P	0.35628	0.513	B	0.26416	0.069	T	0.13019	-1.0525	10	0.25751	T	0.34	.	13.7928	0.63152	0.0:0.9268:0.0:0.0732	.	217	O95279	KCNK5_HUMAN	T	217	ENSP00000352527:A217T	ENSP00000352527:A217T	A	-	1	0	KCNK5	39267495	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.511000	0.53400	2.619000	0.88677	0.561000	0.74099	GCC	KCNK5	-	pfam_Ion_trans_2		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	C	NM_003740		39159517	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	missense	SNP	0.986	T	T	39159517	C	T	39159517	3	4	74	1	0	0	0	0	1	0	0	0	8089	768	27	2	854	2	KCNK5	6	39159517	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	514384	39159517	131955550	388	11083										
MOCS1	4337	genome.wustl.edu	37	chr6	39893501	39893501	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgatgccttccttcacaaaGagccgggcgagggtcaggat	13	11	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:39893501G>A	ENST00000340692.5	-	3	342	c.339C>T	c.(337-339)ctC>ctT	p.L113L	MOCS1_ENST00000432280.2_Silent_p.L84L|MOCS1_ENST00000425303.2_Silent_p.L113L|MOCS1_ENST00000373186.4_Silent_p.L113L|MOCS1_ENST00000373188.2_Silent_p.L113L|MOCS1_ENST00000373195.3_Silent_p.L26L|MOCS1_ENST00000373175.4_Silent_p.L84L|MOCS1_ENST00000308559.7_Silent_p.L113L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	113	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTTCACAAAGAGCCGGGCGA	0.607																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													54	52	53					6																	39893501		2202	4293	6495	SO:0001819	synonymous_variant	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.339C>T	6.37:g.39893501G>A			B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.L113	ENST00000340692.5	37	c.339		6																																																																																			MOCS1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA		0.607	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	G	NM_005943		39893501	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39893501	G	A	39893501	2	1	74	1	0	0	0	0	0	0	0	1	9713	929	33	1		1	MOCS1	6	39893501	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	733984	39893501	131221566	389	11084										
UNC5CL	222643	genome.wustl.edu	37	chr6	41000851	41000851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagccatttgcgggcttcgcGccccacaggtgcctccagca	11	17	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:41000851G>A	ENST00000373164.1	-	3	781	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.R241C			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	241	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGGGCTTCGCGCCCCACAGGT	0.602																																																	0													37	33	34					6																	41000851		2201	4300	6501	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.721C>T	6.37:g.41000851G>A	ENSP00000362258:p.Arg241Cys		Q5TGU1	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.R241C	ENST00000373164.1	37	c.721	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	G	5.323	0.244951	0.10077	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16073	2.37;2.37	5.49	4.43	0.53597	.	1.611030	0.03789	N	0.262499	T	0.06005	0.0156	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17561	-1.0365	10	0.56958	D	0.05	-4.7319	10.0753	0.42358	0.1058:0.0:0.8942:0.0	.	241	Q8IV45	UN5CL_HUMAN	C	241	ENSP00000244565:R241C;ENSP00000362258:R241C	ENSP00000244565:R241C	R	-	1	0	UNC5CL	41108829	0.001000	0.12720	0.691000	0.30163	0.028000	0.11728	1.019000	0.30014	2.568000	0.86640	0.655000	0.94253	CGC	UNC5CL	-	NULL		0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	G	NM_173561		41000851	-1	no_errors	ENST00000244565	ensembl	human	known	70_37	missense	SNP	0.028	A	A	41000851	G	A	41000851	3	1	74	1	0	0	0	0	1	0	0	0	17025	1087	38	2	859	2	UNC5CL	6	41000851	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1107350	41000851	130114216	390	11085										
UNC5CL	222643	genome.wustl.edu	37	chr6	41002620	41002620	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggctggcaggtgctgccttGagacctcattttctagttgg	13	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:41002620G>C	ENST00000373164.1	-	1	254	c.194C>G	c.(193-195)tCa>tGa	p.S65*	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Nonsense_Mutation_p.S65*			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	65					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCTGCCTTGAGACCTCATT	0.587																																																	0													163	143	149					6																	41002620		2203	4300	6503	SO:0001587	stop_gained	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.194C>G	6.37:g.41002620G>C	ENSP00000362258:p.Ser65*		Q5TGU1	Nonsense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.S65*	ENST00000373164.1	37	c.194	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895493	0.33442	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	.	.	.	4.66	3.76	0.43208	.	0.557699	0.16358	N	0.217889	.	.	.	.	.	.	0.19945	N	0.999944	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.3324	10.4811	0.44693	0.0:0.1969:0.8031:0.0	.	.	.	.	X	65	.	ENSP00000244565:S65X	S	-	2	0	UNC5CL	41110598	0.058000	0.20735	0.002000	0.10522	0.036000	0.12997	3.052000	0.49893	1.150000	0.42419	0.563000	0.77884	TCA	UNC5CL	-	NULL		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	G	NM_173561		41002620	-1	no_errors	ENST00000244565	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	41002620	G	C	41002620	4	2	74	1	0	0	0	0	0	1	0	0	17025	1294	45	1	1394	1	UNC5CL	6	41002620	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1769	41002620	130112447	391	11086										
TREML2	79865	genome.wustl.edu	37	chr6	41168713	41168714	+	In_Frame_Ins	INS	-	-	CAG													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagacgcaaccctgtggccaINScagcagcagcagcagcagga							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:41168713_41168714insCAG	ENST00000483722.1	-	1	218_219	c.33_34insCTG	c.(31-36)ctgtgg>ctgCTGtgg	p.11_12insL		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTGTGGCCACAGCAGCAGCA	0.624																																																	0																																										SO:0001652	inframe_insertion	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33dupCTG	6.37:g.41168720_41168722dupCAG	ENSP00000418767:p.Leu11_Leu11dup		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Ins	INS	pfam_Ig_V-set,pfscan_Ig-like	p.11in_frame_insL	ENST00000483722.1	37	c.34_33	CCDS4853.2	6																																																																																			TREML2	-	NULL		0.624	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	-	NM_024807		41168714	-1	no_errors	ENST00000483722	ensembl	human	known	70_37	in_frame_ins	INS	1.000:0.997	CAG	CAG	41168714	-	CAG	41168713	7	5	74	1	0	1	1	0	0	0	0	0	16504	159	6	0	951	0	TREML2	6	41168713	In_Frame_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	166093	41168713	129946354	392	11087										
TTBK1	84630	genome.wustl.edu	37	chr6	43230635	43230635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaccgacaggccagtggccgCatggacgtgtcagcctctgt	14	13	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:43230635C>T	ENST00000259750.4	+	13	1616	c.1533C>T	c.(1531-1533)cgC>cgT	p.R511R	TTBK1_ENST00000304139.5_Silent_p.R460R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	511					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGTGGCCGCATGGACGTGT	0.657																																																	0													56	45	49					6																	43230635		2203	4300	6503	SO:0001819	synonymous_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1533C>T	6.37:g.43230635C>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R511	ENST00000259750.4	37	c.1533	CCDS34455.1	6																																																																																			TTBK1	-	NULL		0.657	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43230635	1	no_errors	ENST00000259750	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43230635	C	T	43230635	2	4	74	1	0	0	0	0	0	0	0	1	16707	697	25	4		4	TTBK1	6	43230635	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2061922	43230635	127884432	393	11088										
GPR116	221395	genome.wustl.edu	37	chr6	46867796	46867796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgcctcagtgcctcttcacCagctggttcatgttcatgaa	8	12	5	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:46867796C>A	ENST00000283296.7	-	3	415	c.127G>T	c.(127-129)Ggt>Tgt	p.G43C	GPR116_ENST00000456426.2_Missense_Mutation_p.G43C|GPR116_ENST00000265417.7_Missense_Mutation_p.G43C|GPR116_ENST00000362015.4_Missense_Mutation_p.G43C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	43					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCCTCTTCACCAGCTGGTTCA	0.408																																					NSCLC(59;410 1274 8751 36715 50546)												0													104	95	98					6																	46867796		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.127G>T	6.37:g.46867796C>A	ENSP00000283296:p.Gly43Cys		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.G43C	ENST00000283296.7	37	c.127	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546500	0.13312	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.27890	1.7;2.08;1.64;1.7	4.96	0.926	0.19430	.	0.984511	0.08257	N	0.973628	T	0.22820	0.0551	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.55999	0.62;0.789;0.62	T	0.11372	-1.0590	10	0.72032	D	0.01	-4.2693	7.3818	0.26859	0.0:0.5762:0.0:0.4238	.	43;43;43	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	C	43	ENSP00000283296:G43C;ENSP00000354563:G43C;ENSP00000412866:G43C;ENSP00000265417:G43C	ENSP00000265417:G43C	G	-	1	0	GPR116	46975755	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-0.050000	0.11904	0.196000	0.20367	0.462000	0.41574	GGT	GPR116	-	NULL		0.408	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	C	NM_015234		46867796	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46867796	C	A	46867796	3	1	74	1	0	0	0	0	1	0	0	0	6652	594	21	4	3989	4	GPR116	6	46867796	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3637161	46867796	124247271	394	11089										
CRISP2	7180	genome.wustl.edu	37	chr6	49665598	49665598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaatattggcaaacatagtAgtattttagactatcttgat	6	5	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:49665598A>C	ENST00000339139.4	-	8	726	c.490T>G	c.(490-492)Tac>Gac	p.Y164D		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	164	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAAACATAGTAGTATTTTAGA	0.318																																																	0													110	113	112					6																	49665598		2203	4300	6503	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.490T>G	6.37:g.49665598A>C	ENSP00000339155:p.Tyr164Asp		A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.Y164D	ENST00000339139.4	37	c.490	CCDS4928.1	6	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304673	0.60305	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.10477	2.87	4.7	3.56	0.40772	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.851677	0.10592	N	0.656653	T	0.29093	0.0723	H	0.96142	3.775	0.21897	N	0.999481	D;P	0.60160	0.987;0.592	D;P	0.63381	0.914;0.673	T	0.22487	-1.0215	10	0.87932	D	0	.	8.319	0.32117	0.9034:0.0:0.0966:0.0	.	164;164	Q7Z7B2;P16562	.;CRIS2_HUMAN	D	164	ENSP00000339155:Y164D	ENSP00000211238:Y164D	Y	-	1	0	CRISP2	49773557	0.977000	0.34250	0.906000	0.35671	0.836000	0.47400	4.021000	0.57196	2.105000	0.64084	0.528000	0.53228	TAC	CRISP2	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1		0.318	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP2	HGNC	protein_coding	OTTHUMT00000040870.2	A	NM_003296		49665598	-1	no_errors	ENST00000339139	ensembl	human	known	70_37	missense	SNP	0.898	C	C	49665598	A	C	49665598	3	2	74	1	0	0	0	0	1	0	0	0	3885	420	15	5	253	5	CRISP2	6	49665598	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2797802	49665598	121449469	395	11090										
EYS	346007	genome.wustl.edu	37	chr6	65767564	65767564	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggttggtcaatgcaggtggCtccatttttgcagggatgtg	15	6	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:65767564C>A	ENST00000370621.3	-	13	2606	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	EYS_ENST00000370616.2_Missense_Mutation_p.A694S|EYS_ENST00000503581.1_Missense_Mutation_p.A694S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	694	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGCAGGTGGCTCCATTTTTG	0.378																																																	0													223	180	193					6																	65767564		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2080G>T	6.37:g.65767564C>A	ENSP00000359655:p.Ala694Ser		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.A694S	ENST00000370621.3	37	c.2080		6	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289787	0.59976	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.94280	-3.39;-3.39;-3.39	5.58	2.76	0.32466	.	.	.	.	.	D	0.88474	0.6446	N	0.26162	0.8	0.80722	D	1	D	0.65815	0.995	P	0.59546	0.859	D	0.86575	0.1850	9	0.41790	T	0.15	.	7.9027	0.29744	0.0:0.7261:0.13:0.1439	.	694	Q5T1H1-1	.	S	694	ENSP00000424243:A694S;ENSP00000359655:A694S;ENSP00000359650:A694S	ENSP00000359650:A694S	A	-	1	0	EYS	65824285	0.998000	0.40836	0.253000	0.24343	0.559000	0.35586	2.722000	0.47269	0.692000	0.31613	0.591000	0.81541	GCC	EYS	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.378	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		65767564	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.999	A	A	65767564	C	A	65767564	3	1	74	1	0	0	0	0	1	0	0	0	5344	797	28	4	7323	4	EYS	6	65767564	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	16101966	65767564	105347503	396	11091										
FILIP1	27145	genome.wustl.edu	37	chr6	76022902	76022902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cggggccctttctcctgagtGatggaggggccgttttccct	14	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:76022902G>A	ENST00000237172.7	-	5	2976	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	FILIP1_ENST00000370020.1_Silent_p.I783I|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Silent_p.I882I	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	882										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCCTGAGTGATGGAGGGGC	0.522																																																	0													74	75	75					6																	76022902		2203	4300	6503	SO:0001819	synonymous_variant	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2646C>T	6.37:g.76022902G>A			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.I882	ENST00000237172.7	37	c.2646	CCDS4984.1	6																																																																																			FILIP1	-	NULL		0.522	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76022902	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	silent	SNP	0.000	A	A	76022902	G	A	76022902	2	1	74	1	0	0	0	0	0	0	0	1	5912	1280	45	1		1	FILIP1	6	76022902	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10255338	76022902	95092165	397	11092										
FILIP1	27145	genome.wustl.edu	37	chr6	76124534	76124534	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgtcgtttgacagttcctGaggccatgacatcatcctcc	10	12	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:76124534G>C	ENST00000237172.7	-	2	485	c.155C>G	c.(154-156)tCa>tGa	p.S52*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.S52*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	52										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GACAGTTCCTGAGGCCATGAC	0.423																																																	0													252	246	248					6																	76124534		2203	4300	6503	SO:0001587	stop_gained	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.155C>G	6.37:g.76124534G>C	ENSP00000237172:p.Ser52*		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.S52*	ENST00000237172.7	37	c.155	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.829686	0.98513	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	.	.	.	5.55	5.55	0.83447	.	0.194520	0.36444	N	0.002599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-10.1271	19.5141	0.95155	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000237172:S52X	S	-	2	0	FILIP1	76181254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.220000	0.78008	2.597000	0.87782	0.650000	0.86243	TCA	FILIP1	-	NULL		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76124534	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	76124534	G	C	76124534	4	2	74	1	0	0	0	0	0	1	0	0	5912	1294	45	1	3506	1	FILIP1	6	76124534	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	101632	76124534	94990533	398	11093										
FAM46A	55603	genome.wustl.edu	37	chr6	82459822	82459822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtcttgatttcatcagaggCgggcctaaagcccctcacca	10	13	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:82459822C>T	ENST00000320172.6	-	3	1233	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	FAM46A_ENST00000369756.3_Missense_Mutation_p.A388T|FAM46A_ENST00000369754.3_Missense_Mutation_p.A326T	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	307					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.A307T(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCATCAGAGGCGGGCCTAAAG	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											50	54	53					6																	82459822		2203	4300	6503	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.919G>A	6.37:g.82459822C>T	ENSP00000318298:p.Ala307Thr		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.A388T	ENST00000320172.6	37	c.1162	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533635	0.27387	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24723	1.84;1.84;1.84	5.95	5.09	0.68999	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	L	0.45698	1.435	0.80722	D	1	B;B	0.27117	0.12;0.168	B;B	0.18871	0.023;0.02	T	0.02519	-1.1147	10	0.44086	T	0.13	-1.583	15.136	0.72566	0.0:0.9327:0.0:0.0673	.	307;326	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	T	326;307;388	ENSP00000358769:A326T;ENSP00000318298:A307T;ENSP00000358771:A388T	ENSP00000318298:A307T	A	-	1	0	FAM46A	82516541	1.000000	0.71417	0.913000	0.36048	0.004000	0.04260	7.487000	0.81328	1.535000	0.49220	-0.136000	0.14681	GCC	FAM46A	-	pfam_DUF1693		0.483	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	C			82459822	-1	no_errors	ENST00000369756	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82459822	C	T	82459822	3	4	74	1	0	0	0	0	1	0	0	0	5583	768	27	2	413	2	FAM46A	6	82459822	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6335288	82459822	88655245	399	11094										
FUT9	10690	genome.wustl.edu	37	chr6	96651276	96651276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacctttgaccttacatcctGccaagcaatgttcaacatcc	5	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:96651276G>A	ENST00000302103.5	+	3	571	c.245G>A	c.(244-246)tGc>tAc	p.C82Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	82					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTTACATCCTGCCAAGCAATG	0.428																																					Melanoma(98;1369 1476 6592 22940 26587)												0													151	132	138					6																	96651276		2203	4300	6503	SO:0001583	missense	10690			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.245G>A	6.37:g.96651276G>A	ENSP00000302599:p.Cys82Tyr		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.C82Y	ENST00000302103.5	37	c.245	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559205	0.65538	.	.	ENSG00000172461	ENST00000302103	T	0.42131	0.98	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83872	0.0274	10	0.66056	D	0.02	-15.0267	18.2419	0.89970	0.0:0.0:1.0:0.0	.	82	Q9Y231	FUT9_HUMAN	Y	82	ENSP00000302599:C82Y	ENSP00000302599:C82Y	C	+	2	0	FUT9	96757997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.617000	0.88574	0.655000	0.94253	TGC	FUT9	-	pfam_Glyco_trans_10		0.428	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	G	NM_006581		96651276	1	no_errors	ENST00000302103	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96651276	G	A	96651276	3	1	74	1	0	0	0	0	1	0	0	0	6129	1319	46	4	247	4	FUT9	6	96651276	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	14191454	96651276	74463791	400	11095										
FHL5	9457	genome.wustl.edu	37	chr6	97058570	97058570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccagagacgactatccattCtgcgtggactgctacaacca	8	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:97058570C>G	ENST00000326771.2	+	6	1007	c.627C>G	c.(625-627)ttC>ttG	p.F209L	FHL5_ENST00000541107.1_Missense_Mutation_p.F209L	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	209	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ACTATCCATTCTGCGTGGACT	0.433																																																	0													239	220	226					6																	97058570		2203	4300	6503	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.627C>G	6.37:g.97058570C>G	ENSP00000326022:p.Phe209Leu		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.F209L	ENST00000326771.2	37	c.627	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361817	0.61403	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87412	-2.25;-2.25;-1.92	5.88	4.84	0.62591	Zinc finger, LIM-type (4);	0.000000	0.47455	D	0.000223	T	0.76856	0.4046	L	0.38733	1.17	0.37859	D	0.929653	B	0.11235	0.004	B	0.17979	0.02	T	0.75983	-0.3125	10	0.87932	D	0	.	15.9279	0.79635	0.0:0.9248:0.0:0.0752	.	209	Q5TD97	FHL5_HUMAN	L	209	ENSP00000442357:F209L;ENSP00000326022:F209L;ENSP00000396390:F209L	ENSP00000326022:F209L	F	+	3	2	FHL5	97165291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.425000	0.44723	2.792000	0.96026	0.650000	0.86243	TTC	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.433	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	C	NM_020482		97058570	1	no_errors	ENST00000326771	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97058570	C	G	97058570	3	3	74	1	0	0	0	0	1	0	0	0	5899	912	32	1	641	1	FHL5	6	97058570	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	407294	97058570	74056497	401	11096										
C6orf168	84553	genome.wustl.edu	37	chr6	99771499	99771499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cactaagagagagcatcttcCgggtctcattgagattgtcc	10	10	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:99771499C>A	ENST00000389677.5	-	4	926	c.644G>T	c.(643-645)cGg>cTg	p.R215L	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	215						integral component of membrane (GO:0016021)											GAGCATCTTCCGGGTCTCATT	0.493																																																	0													115	93	100					6																	99771499		2203	4300	6503	SO:0001583	missense	84553			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.644G>T	6.37:g.99771499C>A	ENSP00000374328:p.Arg215Leu		B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.R215L	ENST00000389677.5	37	c.644	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645012	0.29246	.	.	ENSG00000146267	ENST00000389677	.	.	.	5.74	4.77	0.60923	.	0.062092	0.64402	D	0.000003	T	0.10809	0.0264	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34329	-0.9833	9	0.07813	T	0.8	-5.805	3.7704	0.08639	0.0:0.6675:0.0:0.3325	.	215	Q5TGI0	CF168_HUMAN	L	215	.	ENSP00000374328:R215L	R	-	2	0	C6orf168	99878220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.620000	0.61226	2.714000	0.92807	0.650000	0.86243	CGG	FAXC	-	NULL		0.493	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4	C	NM_032511		99771499	-1	no_errors	ENST00000389677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99771499	C	A	99771499	3	1	74	1	0	0	0	0	1	0	0	0	2348	652	23	2	597	2	C6orf168	6	99771499	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2712929	99771499	71343568	402	11097										
PDSS2	57107	genome.wustl.edu	37	chr6	107780477	107780477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggcaagtgcaacagcagctGccgaaagttcatggtttgag	13	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:107780477G>A	ENST00000369037.4	-	1	290	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	PDSS2_ENST00000369031.4_Nonsense_Mutation_p.Q5*|PDSS2_ENST00000453874.2_Nonsense_Mutation_p.Q5*	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	5					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AACAGCAGCTGCCGAAAGTTC	0.597											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	40	38					6																	107780477		2203	4300	6503	SO:0001587	stop_gained	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.13C>T	6.37:g.107780477G>A	ENSP00000358033:p.Gln5*	1407	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Nonsense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.Q5*	ENST00000369037.4	37	c.13	CCDS5059.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.591817	0.98378	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	.	.	.	4.95	3.02	0.34903	.	0.818761	0.11257	N	0.582993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.7577	0.28933	0.0:0.1798:0.6338:0.1864	.	.	.	.	X	5	.	ENSP00000358027:Q5X	Q	-	1	0	PDSS2	107887170	0.996000	0.38824	0.998000	0.56505	0.693000	0.40251	1.264000	0.33015	1.429000	0.47314	0.655000	0.94253	CAG	PDSS2	-	NULL		0.597	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	G	NM_020381		107780477	-1	no_errors	ENST00000369037	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	107780477	G	A	107780477	4	1	74	1	0	0	0	0	0	1	0	0	11718	1328	46	4	1218	4	PDSS2	6	107780477	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8008978	107780477	63334590	403	11098										
SOBP	55084	genome.wustl.edu	37	chr6	107956596	107956596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcatcatctcctcgcccatgCtcagcgccgggcctgaggac	11	17	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:107956596C>T	ENST00000317357.5	+	6	3207	c.2548C>T	c.(2548-2550)Ctc>Ttc	p.L850F	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCGCCCATGCTCAGCGCCGG	0.607																																																	0													48	60	56					6																	107956596		2060	4192	6252	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2548C>T	6.37:g.107956596C>T	ENSP00000318900:p.Leu850Phe			Missense_Mutation	SNP	NULL	p.L850F	ENST00000317357.5	37	c.2548	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297675	0.60086	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.34072	1.38	4.94	4.94	0.65067	.	0.761386	0.10611	U	0.654478	T	0.37073	0.0990	N	0.19112	0.55	0.32905	D	0.513737	D	0.64830	0.994	D	0.72075	0.976	T	0.40961	-0.9535	10	0.48119	T	0.1	-4.7893	18.1441	0.89649	0.0:1.0:0.0:0.0	.	850	A7XYQ1	SOBP_HUMAN	F	850;245	ENSP00000318900:L850F	ENSP00000230065:L245F	L	+	1	0	SOBP	108063289	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	1.984000	0.40658	2.259000	0.74868	0.563000	0.77884	CTC	SOBP	-	NULL		0.607	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	C	NM_018013		107956596	1	no_errors	ENST00000317357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107956596	C	T	107956596	3	4	74	1	0	0	0	0	1	0	0	0	14942	797	28	4	2570	4	SOBP	6	107956596	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	176119	107956596	63158471	404	11099										
SMPD2	6610	genome.wustl.edu	37	chr6	109763769	109763769	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catgccgaatacaatcgacaGaaggacatctacctagcaca	7	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:109763769G>A	ENST00000258052.3	+	6	791	c.432G>A	c.(430-432)caG>caA	p.Q144Q	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	144					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522																																																	0													169	146	154					6																	109763769		2203	4300	6503	SO:0001819	synonymous_variant	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.432G>A	6.37:g.109763769G>A			Q5TED1|Q9BWR3	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q144	ENST00000258052.3	37	c.432	CCDS5075.1	6																																																																																			SMPD2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.522	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	G			109763769	1	no_errors	ENST00000258052	ensembl	human	known	70_37	silent	SNP	0.984	A	A	109763769	G	A	109763769	2	1	74	1	0	0	0	0	0	0	0	1	14835	933	33	1		1	SMPD2	6	109763769	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1807173	109763769	61351298	405	11100										
WASF1	8936	genome.wustl.edu	37	chr6	110423187	110423187	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagaactccaggggcaatctGaagaggagctggaggtggtg	17	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:110423187G>A	ENST00000392589.1	-	10	1962	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	WASF1_ENST00000359451.2_Nonsense_Mutation_p.Q376*|WASF1_ENST00000392588.1_Nonsense_Mutation_p.Q376*|WASF1_ENST00000392586.1_Nonsense_Mutation_p.Q376*|WASF1_ENST00000392587.2_Nonsense_Mutation_p.Q376*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	376					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGGCAATCTGAAGAGGAGCT	0.572																																																	0													89	93	92					6																	110423187		2203	4300	6503	SO:0001587	stop_gained	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1126C>T	6.37:g.110423187G>A	ENSP00000376368:p.Gln376*		E1P5F2|Q5SZK7	Nonsense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.Q376*	ENST00000392589.1	37	c.1126	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.459409	0.98296	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	.	.	.	5.55	4.69	0.59074	.	0.113052	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.4078	0.67093	0.0711:0.0:0.9289:0.0	.	.	.	.	X	376	.	ENSP00000352425:Q376X	Q	-	1	0	WASF1	110529880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	1.352000	0.45808	0.650000	0.86243	CAG	WASF1	-	NULL		0.572	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	G	NM_003931		110423187	-1	no_errors	ENST00000359451	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	110423187	G	A	110423187	4	1	74	1	0	0	0	0	0	1	0	0	17283	1299	45	1	561	1	WASF1	6	110423187	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	659418	110423187	60691880	406	11101										
CDC40	51362	genome.wustl.edu	37	chr6	110514391	110514391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtattctttttaggaagatTtggagactggagttcacctt	11	5	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:110514391T>G	ENST00000368932.1	+	3	297	c.196T>G	c.(196-198)Ttg>Gtg	p.L66V	CDC40_ENST00000307731.1_Missense_Mutation_p.L66V|CDC40_ENST00000368930.1_Missense_Mutation_p.L66V			O60508	PRP17_HUMAN	cell division cycle 40	66					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTAGGAAGATTTGGAGACTGG	0.348																																																	0													94	92	93					6																	110514391		2203	4300	6503	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.196T>G	6.37:g.110514391T>G	ENSP00000357928:p.Leu66Val		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L66V	ENST00000368932.1	37	c.196	CCDS5081.1	6	.	.	.	.	.	.	.	.	.	.	T	4.843	0.156771	0.09236	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.60040	0.35;0.22;0.22;0.35	5.54	1.43	0.22495	.	0.116916	0.56097	N	0.000023	T	0.07683	0.0193	N	0.00656	-1.285	0.40144	D	0.976864	B	0.02656	0.0	B	0.01281	0.0	T	0.16958	-1.0385	10	0.12430	T	0.62	-3.6796	8.502	0.33163	0.0:0.0864:0.5438:0.3699	.	66	O60508	PRP17_HUMAN	V	66	ENSP00000357928:L66V;ENSP00000357929:L66V;ENSP00000357926:L66V;ENSP00000304370:L66V	ENSP00000304370:L66V	L	+	1	2	CDC40	110621084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.459000	0.60102	0.454000	0.26884	0.533000	0.62120	TTG	CDC40	-	NULL		0.348	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	T	NM_015891		110514391	1	no_errors	ENST00000307731	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110514391	T	G	110514391	3	3	74	1	0	0	0	0	1	0	0	0	3075	1838	64	5	202	5	CDC40	6	110514391	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	91204	110514391	60600676	407	11102										
C6orf186	728464	genome.wustl.edu	37	chr6	110636575	110636575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaggcggcactgcttgttgCggatttgatgagctaaattg	14	6	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:110636575C>T	ENST00000338882.4	-	3	526	c.527G>A	c.(526-528)cGc>cAc	p.R176H		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	176						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										CTGCTTGTTGCGGATTTGATG	0.458																																																	0													171	151	157					6																	110636575		1568	3582	5150	SO:0001583	missense	728464				CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 186"	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.527G>A	6.37:g.110636575C>T	ENSP00000344071:p.Arg176His		Q6ZSU5	Missense_Mutation	SNP	NULL	p.R176H	ENST00000338882.4	37	c.527	CCDS43489.1	6	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668425	0.29604	.	.	ENSG00000053328	ENST00000338882	T	0.44881	0.91	5.42	-1.08	0.09936	.	0.442766	0.23949	N	0.042967	T	0.14787	0.0357	L	0.35854	1.095	0.36832	D	0.88692	B	0.14012	0.009	B	0.12837	0.008	T	0.08659	-1.0711	10	0.51188	T	0.08	-3.9002	10.2843	0.43558	0.0:0.4182:0.0:0.5818	.	176	Q5JXM2	CF186_HUMAN	H	176	ENSP00000344071:R176H	ENSP00000344071:R176H	R	-	2	0	C6orf186	110743268	0.251000	0.23961	0.210000	0.23637	0.910000	0.53928	0.027000	0.13621	-0.171000	0.10797	-0.793000	0.03317	CGC	METTL24	-	NULL		0.458	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	METTL24	HGNC	protein_coding	OTTHUMT00000041794.1	C	NM_001123364		110636575	-1	no_errors	ENST00000338882	ensembl	human	known	70_37	missense	SNP	0.344	T	T	110636575	C	T	110636575	3	4	74	1	0	0	0	0	1	0	0	0	2352	768	27	2	585	2	C6orf186	6	110636575	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	122184	110636575	60478492	408	11103										
RFX6	222546	genome.wustl.edu	37	chr6	117241490	117241490	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagattgccagaccagctctCtttgaccagcatgtcgttaa	8	12	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:117241490C>T	ENST00000332958.2	+	12	1216	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	400					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCTCTCTTTGACCAGC	0.378																																																	0													196	178	184					6																	117241490		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1200C>T	6.37:g.117241490C>T			Q5T6B3	Silent	SNP	pfam_DNA-bd_RFX	p.L400	ENST00000332958.2	37	c.1200	CCDS5113.1	6																																																																																			RFX6	-	NULL		0.378	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117241490	1	no_errors	ENST00000332958	ensembl	human	known	70_37	silent	SNP	1.000	T	T	117241490	C	T	117241490	2	4	74	1	0	0	0	0	0	0	0	1	13297	900	32	1		1	RFX6	6	117241490	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6604915	117241490	53873577	409	11104										
RFX6	222546	genome.wustl.edu	37	chr6	117250102	117250102	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcgttttacacagacacatCatctccagttgcatgtcgaa	6	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:117250102C>T	ENST00000332958.2	+	18	2595	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	860					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAGACACATCATCTCCAGTT	0.403																																																	0													139	120	126					6																	117250102		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2579C>T	6.37:g.117250102C>T	ENSP00000332208:p.Ser860Leu		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S860L	ENST00000332958.2	37	c.2579	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452521	0.43531	.	.	ENSG00000185002	ENST00000332958	T	0.56103	0.48	5.63	4.75	0.60458	.	1.048580	0.07439	N	0.896960	T	0.23133	0.0559	N	0.17082	0.46	0.24107	N	0.995853	B	0.02656	0.0	B	0.04013	0.001	T	0.39272	-0.9622	10	0.44086	T	0.13	0.1491	15.3161	0.74078	0.0:0.9316:0.0:0.0684	.	860	Q8HWS3	RFX6_HUMAN	L	860	ENSP00000332208:S860L	ENSP00000332208:S860L	S	+	2	0	RFX6	117356795	0.507000	0.26146	0.054000	0.19295	0.835000	0.47333	4.148000	0.58085	1.487000	0.48415	0.655000	0.94253	TCA	RFX6	-	NULL		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117250102	1	no_errors	ENST00000332958	ensembl	human	known	70_37	missense	SNP	0.486	T	T	117250102	C	T	117250102	3	4	74	1	0	0	0	0	1	0	0	0	13297	838	29	1	2649	1	RFX6	6	117250102	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	8612	117250102	53864965	410	11105										
RNF217	154214	genome.wustl.edu	37	chr6	125404041	125404042	+	Frame_Shift_Ins	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcctatctattgcctttgtINSaaaaaacagagaaaacgatc					rs372708762		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:125404041_125404042insA	ENST00000521654.2	+	6	1587_1588	c.1587_1588insA	c.(1588-1590)aaafs	p.K530fs	RNF217_ENST00000560949.1_Frame_Shift_Ins_p.K295fs|RNF217_ENST00000368414.2_Frame_Shift_Ins_p.K92fs|RNF217_ENST00000275184.6_Frame_Shift_Ins_p.K174fs|RNF217_ENST00000359704.2_Stop_Codon_Ins			Q8TC41	RN217_HUMAN	ring finger protein 217	530					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTGCCTTTGTAAAAAACAGAG	0.366																																																	0																																										SO:0001589	frameshift_variant	154214			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1593dupA	6.37:g.125404047_125404047dupA	ENSP00000428698:p.Lys530fs		H7C5V4|Q5TCA4|Q9BX48	Frame_Shift_Ins	INS	pfam_Znf_C6HC,smart_Znf_C6HC	p.Q296fs	ENST00000521654.2	37	c.882_883		6																																																																																			RNF217	-	NULL		0.366	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	-	NM_152553		125404042	1	no_errors	ENST00000560949	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	125404042	-	A	125404041	7	5	74	1	0	1	1	0	0	0	0	0	13511	1651	57	0	852	0	RNF217	6	125404041	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	8153939	125404041	45711026	411	11106										
ECHDC1	55862	genome.wustl.edu	37	chr6	127611226	127611226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcttctagagatttagtttCatctgaagactgcaagacct	7	9	4	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:127611226C>T	ENST00000531967.1	-	6	1215	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E232K|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E157K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E215K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E232K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E232K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	238						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GATTTAGTTTCATCTGAAGAC	0.408																																																	0													145	138	140					6																	127611226		1851	4090	5941	SO:0001583	missense	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.712G>A	6.37:g.127611226C>T	ENSP00000436585:p.Glu238Lys		A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.E238K	ENST00000531967.1	37	c.712	CCDS47471.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.680541|4.680541	0.88542|0.88542	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841|ENST00000436638	T;T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.195186|.	0.53938|.	D|.	0.000056|.	T|T	0.66307|0.66307	0.2776|0.2776	L|L	0.57536|0.57536	1.79|1.79	0.52099|0.52099	D|D	0.999943|0.999943	P|.	0.51147|.	0.942|.	P|.	0.58013|.	0.831|.	T|T	0.62886|0.62886	-0.6759|-0.6759	10|5	0.54805|.	T|.	0.06|.	.|.	19.4456|19.4456	0.94845|0.94845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238|.	Q9NTX5|.	ECHD1_HUMAN|.	K|I	232;238;204;232;157;215;232|245	ENSP00000401751:E232K;ENSP00000436585:E238K;ENSP00000434908:E232K;ENSP00000404866:E157K;ENSP00000311115:E215K;ENSP00000402492:E232K|.	ENSP00000311115:E215K|.	E|M	-|-	1|3	0|0	ECHDC1|ECHDC1	127652919|127652919	0.892000|0.892000	0.30473|0.30473	0.922000|0.922000	0.36590|0.36590	0.981000|0.981000	0.71138|0.71138	3.479000|3.479000	0.53165|0.53165	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	GAA|ATG	ECHDC1	-	NULL		0.408	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	C			127611226	-1	no_errors	ENST00000531967	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127611226	C	T	127611226	3	4	74	1	0	0	0	0	1	0	0	0	4903	835	29	1	215	1	ECHDC1	6	127611226	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2207185	127611226	43503841	412	11107										
EPB41L2	2037	genome.wustl.edu	37	chr6	131179308	131179308	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcctcagccaactctgtttCtttgtgtaccaccactcttg	5	14	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:131179308C>G	ENST00000337057.3	-	19	3167	c.2986G>C	c.(2986-2988)Gaa>Caa	p.E996Q	EPB41L2_ENST00000525271.1_Missense_Mutation_p.E664Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E738Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E738Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E996Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E926Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E802Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E664Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E926Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E192Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E843Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E117Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E697Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E374Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	996	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AACTCTGTTTCTTTGTGTACC	0.527																																																	0													356	256	290					6																	131179308		2203	4300	6503	SO:0001583	missense	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2986G>C	6.37:g.131179308C>G	ENSP00000338481:p.Glu996Gln		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E996Q	ENST00000337057.3	37	c.2986	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577903	0.86645	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.16	6.16	0.99307	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.75777	2.31	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;0.974;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.966;0.999;0.957;0.999;0.997	D	0.91493	0.5213	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	664;843;996;738;374;163	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	Q	117;738;843;738;996;192;664;996;926;374;664;697;802;926	ENSP00000434596:E117Q;ENSP00000434308:E738Q;ENSP00000434576:E843Q;ENSP00000402041:E738Q;ENSP00000338481:E996Q;ENSP00000436349:E192Q;ENSP00000376222:E664Q;ENSP00000357110:E996Q;ENSP00000436348:E926Q;ENSP00000437207:E374Q;ENSP00000432803:E664Q;ENSP00000431988:E697Q;ENSP00000431647:E802Q;ENSP00000436641:E926Q	ENSP00000338481:E996Q	E	-	1	0	EPB41L2	131221001	1.000000	0.71417	0.991000	0.47740	0.840000	0.47671	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	GAA	EPB41L2	-	pirsf_Band_41_protein,pfam_Band_4.1_C		0.527	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	C			131179308	-1	no_errors	ENST00000337057	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131179308	C	G	131179308	3	3	74	1	0	0	0	0	1	0	0	0	5165	922	32	1	35	1	EPB41L2	6	131179308	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3568082	131179308	39935759	413	11108										
C6orf192	116843	genome.wustl.edu	37	chr6	133100476	133100476	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagctgagtgagttgatgacGaaggctataaggccaacttt	13	6	0	4	rs371507856		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:133100476G>A	ENST00000275227.4	-	7	822	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.F116F	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AGTTGATGACGAAGGCTATAA	0.413																																																	0								G		0,4406		0,0,2203	159	144	149		726	-6	0	6		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C6orf192	NM_052831.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		242/457	133100476	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.726C>T	6.37:g.133100476G>A			A8K1K3|B3KW77|Q6ISF2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F242	ENST00000275227.4	37	c.726	CCDS5163.1	6																																																																																			SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.413	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	G	NM_052831		133100476	-1	no_errors	ENST00000275227	ensembl	human	known	70_37	silent	SNP	0.469	A	A	133100476	G	A	133100476	2	1	74	1	0	0	0	0	0	0	0	1	2354	1049	37	1		1	C6orf192	6	133100476	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1921168	133100476	38014591	414	11109										
MAP3K5	4217	genome.wustl.edu	37	chr6	136888803	136888803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttcatccttccaagctgtaCattcagtgaccggtgagcac	8	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:136888803C>T	ENST00000359015.4	-	26	4087	c.3727G>A	c.(3727-3729)Gta>Ata	p.V1243I	MAP3K5_ENST00000355845.4_Missense_Mutation_p.V490I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1243					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCAAGCTGTACATTCAGTGAC	0.448																																																	0													99	86	90					6																	136888803		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3727G>A	6.37:g.136888803C>T	ENSP00000351908:p.Val1243Ile		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V1243I	ENST00000359015.4	37	c.3727	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964540	0.18583	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.70986	-0.4;-0.53	5.38	1.54	0.23209	.	0.267481	0.42053	N	0.000768	T	0.37183	0.0994	L	0.43152	1.355	0.30942	N	0.725676	B;B	0.20887	0.049;0.001	B;B	0.16722	0.016;0.002	T	0.11397	-1.0589	10	0.37606	T	0.19	.	6.3468	0.21353	0.1297:0.6618:0.0:0.2084	.	1324;1243	Q59GL6;Q99683	.;M3K5_HUMAN	I	1243;490	ENSP00000351908:V1243I;ENSP00000348104:V490I	ENSP00000348104:V490I	V	-	1	0	MAP3K5	136930496	1.000000	0.71417	0.048000	0.18961	0.922000	0.55478	1.820000	0.39032	-0.006000	0.14370	0.555000	0.69702	GTA	MAP3K5	-	NULL		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			136888803	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	0.665	T	T	136888803	C	T	136888803	3	4	74	1	0	0	0	0	1	0	0	0	9276	478	17	4	417	4	MAP3K5	6	136888803	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3788327	136888803	34226264	415	11110										
KIAA1244	57221	genome.wustl.edu	37	chr6	138656032	138656032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaacaaaatctacaccatgGcagccgacaagaccatttca	7	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:138656032G>A	ENST00000251691.4	+	33	6215	c.6049G>A	c.(6049-6051)Gca>Aca	p.A2017T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTACACCATGGCAGCCGACAA	0.532																																																	0													71	62	65					6																	138656032		2203	4297	6500	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6049G>A	6.37:g.138656032G>A	ENSP00000251691:p.Ala2017Thr			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.A2017T	ENST00000251691.4	37	c.6049	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230699	0.58777	.	.	ENSG00000112379	ENST00000251691	T	0.27402	1.67	5.69	5.69	0.88448	.	0.277705	0.37261	N	0.002179	T	0.12518	0.0304	N	0.19112	0.55	0.49213	D	0.999769	B	0.32653	0.379	B	0.23716	0.048	T	0.03795	-1.1003	10	0.44086	T	0.13	-13.5847	19.8275	0.96624	0.0:0.0:1.0:0.0	.	2017	Q5TH69	BIG3_HUMAN	T	2017	ENSP00000251691:A2017T	ENSP00000251691:A2017T	A	+	1	0	KIAA1244	138697725	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.348000	0.79366	2.678000	0.91216	0.609000	0.83330	GCA	KIAA1244	-	NULL		0.532	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	G	NM_020340		138656032	1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138656032	G	A	138656032	3	1	74	1	0	0	0	0	1	0	0	0	8237	1203	42	4	6179	4	KIAA1244	6	138656032	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1767229	138656032	32459035	416	11111										
TXLNB	167838	genome.wustl.edu	37	chr6	139609794	139609794	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgctcactggccctggcagaGccctctttccctgctgtgct	10	16	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:139609794G>T	ENST00000358430.3	-	2	475	c.243C>A	c.(241-243)ggC>ggA	p.G81G	RP11-445F6.2_ENST00000441249.1_RNA|RP11-445F6.2_ENST00000440518.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	81						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCCTGGCAGAGCCCTCTTTCC	0.537																																																	0													112	109	110					6																	139609794		2203	4300	6503	SO:0001819	synonymous_variant	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.243C>A	6.37:g.139609794G>T			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	pfam_Taxilin_fam	p.G81	ENST00000358430.3	37	c.243	CCDS34545.1	6																																																																																			TXLNB	-	NULL		0.537	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	G	NM_153235		139609794	-1	no_errors	ENST00000358430	ensembl	human	known	70_37	silent	SNP	0.000	T	T	139609794	G	T	139609794	2	4	74	1	0	0	0	0	0	0	0	1	16819	958	34	4		4	TXLNB	6	139609794	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	953762	139609794	31505273	417	11112										
SASH1	23328	genome.wustl.edu	37	chr6	148864862	148864862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctgccaagtcatccaccgaGcccagcttgaagtcttttag	8	13	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:148864862G>T	ENST00000367467.3	+	18	2731	c.2256G>T	c.(2254-2256)gaG>gaT	p.E752D		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	752					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATCCACCGAGCCCAGCTTGA	0.453																																																	0													61	62	61					6																	148864862		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2256G>T	6.37:g.148864862G>T	ENSP00000356437:p.Glu752Asp		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E752D	ENST00000367467.3	37	c.2256	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	2.247	-0.372542	0.05034	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37915	1.17	4.83	2.82	0.32997	.	0.642064	0.17265	N	0.180610	T	0.09730	0.0239	L	0.31294	0.92	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.20571	-1.0271	10	0.36615	T	0.2	-12.2751	6.9462	0.24520	0.1683:0.0:0.6793:0.1524	.	733;752	Q6P4R9;O94885	.;SASH1_HUMAN	D	752;513;162	ENSP00000356437:E752D	ENSP00000356437:E752D	E	+	3	2	SASH1	148906555	0.982000	0.34865	0.039000	0.18376	0.042000	0.13812	1.643000	0.37217	1.047000	0.40274	0.650000	0.86243	GAG	SASH1	-	NULL		0.453	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148864862	1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.095	T	T	148864862	G	T	148864862	3	4	74	1	0	0	0	0	1	0	0	0	13878	962	34	4	2326	4	SASH1	6	148864862	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	9255068	148864862	22250205	418	11113										
SASH1	23328	genome.wustl.edu	37	chr6	148865568	148865568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catcacagcctccacctgttCctgccaaaaagagcagagaa	7	14	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:148865568C>T	ENST00000367467.3	+	18	3437	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	988	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCACCTGTTCCTGCCAAAAA	0.582																																																	0													64	70	68					6																	148865568		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2962C>T	6.37:g.148865568C>T	ENSP00000356437:p.Pro988Ser		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.P988S	ENST00000367467.3	37	c.2962	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687562	0.88639	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.66815	-0.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75246	-0.3385	10	0.72032	D	0.01	-16.2544	18.7516	0.91818	0.0:1.0:0.0:0.0	.	969;988	Q6P4R9;O94885	.;SASH1_HUMAN	S	988;398	ENSP00000356437:P988S	ENSP00000356437:P988S	P	+	1	0	SASH1	148907261	1.000000	0.71417	0.273000	0.24645	0.998000	0.95712	7.272000	0.78516	2.433000	0.82419	0.650000	0.86243	CCT	SASH1	-	NULL		0.582	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	C	NM_015278		148865568	1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.998	T	T	148865568	C	T	148865568	3	4	74	1	0	0	0	0	1	0	0	0	13878	855	30	1	3032	1	SASH1	6	148865568	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	706	148865568	22249499	419	11114										
AKAP12	9590	genome.wustl.edu	37	chr6	151674287	151674287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacgtgataaaagctgacagCcaggacgctggacaggaaac	12	10	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:151674287C>A	ENST00000253332.1	+	3	4950	c.4761C>A	c.(4759-4761)agC>agA	p.S1587R	AKAP12_ENST00000359755.5_Missense_Mutation_p.S1482R|AKAP12_ENST00000402676.2_Missense_Mutation_p.S1587R|AKAP12_ENST00000354675.6_Missense_Mutation_p.S1489R			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1587					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCTGACAGCCAGGACGCTG	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)												0													78	78	78					6																	151674287		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4761C>A	6.37:g.151674287C>A	ENSP00000253332:p.Ser1587Arg		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.S1587R	ENST00000253332.1	37	c.4761	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334206	0.24253	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.09073	3.02;3.02;3.04;3.04	5.01	0.967	0.19674	.	1.745430	0.03199	N	0.174536	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B;B;B	0.27625	0.178;0.178;0.183	B;B;B	0.30495	0.116;0.072;0.054	T	0.44772	-0.9306	10	0.25751	T	0.34	.	5.7879	0.18343	0.0:0.463:0.2453:0.2918	.	1482;1489;1587	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	R	1587;1587;1489;1482	ENSP00000384537:S1587R;ENSP00000253332:S1587R;ENSP00000346702:S1489R;ENSP00000352794:S1482R	ENSP00000253332:S1587R	S	+	3	2	AKAP12	151715980	0.113000	0.22115	0.002000	0.10522	0.001000	0.01503	0.608000	0.24223	0.247000	0.21414	-0.889000	0.02933	AGC	AKAP12	-	NULL		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151674287	1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.000	A	A	151674287	C	A	151674287	3	1	74	1	0	0	0	0	1	0	0	0	448	738	26	4	4800	4	AKAP12	6	151674287	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2808719	151674287	19440780	420	11115										
SYNE1	23345	genome.wustl.edu	37	chr6	152614828	152614828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagatggactggagggagtcCtggtacttctgctggcgttc	16	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:152614828C>T	ENST00000367255.5	-	95	18508	c.17907G>A	c.(17905-17907)caG>caA	p.Q5969Q	SYNE1_ENST00000356820.4_Silent_p.Q493Q|SYNE1_ENST00000265368.4_Silent_p.Q5969Q|SYNE1_ENST00000423061.1_Silent_p.Q5898Q|SYNE1_ENST00000341594.5_Silent_p.Q5581Q|SYNE1_ENST00000448038.1_Silent_p.Q5898Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5969					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGGGAGTCCTGGTACTTCT	0.522										HNSCC(10;0.0054)																																							0													118	111	113					6																	152614828		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17907G>A	6.37:g.152614828C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q5969	ENST00000367255.5	37	c.17907	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152614828	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.998	T	T	152614828	C	T	152614828	2	4	74	1	0	0	0	0	0	0	0	1	15475	680	24	4		4	SYNE1	6	152614828	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	940541	152614828	18500239	421	11116										
TULP4	56995	genome.wustl.edu	37	chr6	158923775	158923775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggggtggtgacacagctccCagcgcggcccccacctgccc	14	18	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:158923775C>T	ENST00000367097.3	+	13	4437	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1027					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACACAGCTCCCAGCGCGGCCC	0.736																																																	0													8	10	10					6																	158923775		2172	4247	6419	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3080C>T	6.37:g.158923775C>T	ENSP00000356064:p.Pro1027Leu		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1027L	ENST00000367097.3	37	c.3080	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	c	8.382	0.837677	0.16891	.	.	ENSG00000130338	ENST00000367097	T	0.60171	0.21	3.95	2.99	0.34606	.	0.262160	0.38837	N	0.001544	T	0.27900	0.0687	L	0.29908	0.895	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	T	0.30416	-0.9979	10	0.52906	T	0.07	-13.8929	9.4733	0.38856	0.432:0.568:0.0:0.0	.	1027	Q9NRJ4	TULP4_HUMAN	L	1027	ENSP00000356064:P1027L	ENSP00000356064:P1027L	P	+	2	0	TULP4	158843763	1.000000	0.71417	0.032000	0.17829	0.207000	0.24258	5.055000	0.64282	2.190000	0.69967	0.556000	0.70494	CCA	TULP4	-	NULL		0.736	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158923775	1	no_errors	ENST00000367097	ensembl	human	known	70_37	missense	SNP	0.222	T	T	158923775	C	T	158923775	3	4	74	1	0	0	0	0	1	0	0	0	16807	594	21	4	3130	4	TULP4	6	158923775	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6308947	158923775	12191292	422	11117										
EZR	7430	genome.wustl.edu	37	chr6	159188022	159188022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcagcgtcttgtacttgtccCggccttgcctcatgttctcg	10	14	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:159188022C>T	ENST00000367075.3	-	14	1853	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	EZR_ENST00000392177.4_Missense_Mutation_p.R530Q|MIR3918_ENST00000581555.1_RNA|EZR_ENST00000337147.7_Missense_Mutation_p.R562Q	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	562	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GTACTTGTCCCGGCCTTGCCT	0.577			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													253	208	224					6																	159188022		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1685G>A	6.37:g.159188022C>T	ENSP00000356042:p.Arg562Gln		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.R562Q	ENST00000367075.3	37	c.1685	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.958793	0.97145	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83755	-1.76;-1.76;-1.76	5.37	5.37	0.77165	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.77557	0.99;0.903	D	0.92744	0.6210	10	0.87932	D	0	.	19.0948	0.93246	0.0:1.0:0.0:0.0	.	530;562	E7EQR4;P15311	.;EZRI_HUMAN	Q	562;562;530	ENSP00000338934:R562Q;ENSP00000356042:R562Q;ENSP00000376016:R530Q	ENSP00000338934:R562Q	R	-	2	0	EZR	159108010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.499000	0.84300	0.561000	0.74099	CGG	EZR	-	pirsf_ERM,pfam_ERM_C,superfamily_Moesin,prints_Ez/rad/moesin		0.577	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159188022	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159188022	C	T	159188022	3	4	74	1	0	0	0	0	1	0	0	0	5347	652	23	2	79	2	EZR	6	159188022	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	264247	159188022	11927045	423	11118										
UNC93A	54346	genome.wustl.edu	37	chr6	167719471	167719471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctgcttctcggccactgaCgcgctgtgctccgtgttgta	11	13	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:167719471C>T	ENST00000230256.3	+	6	1084	c.909C>T	c.(907-909)gaC>gaT	p.D303D	UNC93A_ENST00000366829.2_Silent_p.D261D	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D303E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGGCCACTGACGCGCTGTGCT	0.607																																																	1	Substitution - Missense(1)	lung(1)											254	201	219					6																	167719471		2203	4300	6503	SO:0001819	synonymous_variant	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.909C>T	6.37:g.167719471C>T			B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.D303	ENST00000230256.3	37	c.909	CCDS5300.1	6																																																																																			UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.607	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	C	NM_018974		167719471	1	no_errors	ENST00000230256	ensembl	human	known	70_37	silent	SNP	0.003	T	T	167719471	C	T	167719471	2	4	74	1	0	0	0	0	0	0	0	1	17027	535	19	2		2	UNC93A	6	167719471	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	8531449	167719471	3395596	424	11119										
SMOC2	64094	genome.wustl.edu	37	chr6	168947799	168947799	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttttccgttctgaattcagAtgatgccgcagctccagcgt	9	12	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:168947799A>T	ENST00000356284.2	+	6	732	c.512A>T	c.(511-513)gAt>gTt	p.D171V	SMOC2_ENST00000354536.5_Missense_Mutation_p.D182V	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	171					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTGAATTCAGATGATGCCGCA	0.522																																																	0													180	168	172					6																	168947799		2203	4300	6503	SO:0001630	splice_region_variant	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.512-1A>T	6.37:g.168947799A>T			B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.D182V	ENST00000356284.2	37	c.545	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	.	17.38	3.374121	0.61735	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.38240	1.21;1.15	5.24	5.24	0.73138	.	0.101927	0.46442	D	0.000300	T	0.33527	0.0866	L	0.29908	0.895	0.58432	D	0.999998	P;D	0.62365	0.725;0.991	B;D	0.63381	0.424;0.914	T	0.19516	-1.0303	10	0.52906	T	0.07	.	12.9327	0.58296	1.0:0.0:0.0:0.0	.	171;182	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	V	171;182;171	ENSP00000348630:D171V;ENSP00000346537:D182V	ENSP00000346537:D182V	D	+	2	0	SMOC2	168690648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.879000	0.75572	1.974000	0.57490	0.524000	0.50904	GAT	SMOC2	-	superfamily_Thyroglobulin_1		0.522	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	A		Missense_Mutation	168947799	1	no_errors	ENST00000354536	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168947799	A	T	168947799	5	4	74	1	0	0	0	0	0	0	1	0	14832	347	12	5	567	5	SMOC2	6	168947799	Splice_Site	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1228328	168947799	2167268	425	11120										
WDR27	253769	genome.wustl.edu	37	chr6	170065626	170065626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagctgcctgctttctgcatCaatgaataaactgagaagag	9	9	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:170065626C>T	ENST00000448612.1	-	7	848	c.739G>A	c.(739-741)Gat>Aat	p.D247N	WDR27_ENST00000423258.1_Missense_Mutation_p.D120N|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000420344.2_Silent_p.L161L|WDR27_ENST00000333572.6_Missense_Mutation_p.D247N	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	217						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTTTCTGCATCAATGAATAAA	0.478																																																	0													76	77	77					6																	170065626		1952	4145	6097	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.739G>A	6.37:g.170065626C>T	ENSP00000416289:p.Asp247Asn		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D247N	ENST00000448612.1	37	c.739	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562744	0.27915	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;D	0.95756	1.02;0.98;-3.8	5.18	-0.114	0.13564	.	0.471757	0.21260	N	0.077491	T	0.79930	0.4531	N	0.25426	0.745	0.23210	N	0.998119	B;B;B	0.32653	0.06;0.222;0.379	B;B;B	0.30105	0.031;0.046;0.111	T	0.73786	-0.3873	10	0.22109	T	0.4	-5.1536	8.1356	0.31052	0.0:0.4125:0.4344:0.1531	.	247;120;247	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	N	247;247;120	ENSP00000416289:D247N;ENSP00000330265:D247N;ENSP00000397869:D120N	ENSP00000330265:D247N	D	-	1	0	WDR27	169807551	0.004000	0.15560	0.000000	0.03702	0.017000	0.09413	0.021000	0.13489	-0.382000	0.07870	0.555000	0.69702	GAT	WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.478	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	C	NM_182552		170065626	-1	no_errors	ENST00000448612	ensembl	human	known	70_37	missense	SNP	0.006	T	T	170065626	C	T	170065626	3	4	74	1	0	0	0	0	1	0	0	0	17315	826	29	1	1910	1	WDR27	6	170065626	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1117827	170065626	1049441	426	11121										
PRKAR1B	5575	genome.wustl.edu	37	chr7	590220	590220	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtggccgcccggggccggttCagcagcagtgcaatctcccc	14	16	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:590220C>T	ENST00000406797.1	-	11	1167	c.993G>A	c.(991-993)ctG>ctA	p.L331L	PRKAR1B_ENST00000403562.1_Silent_p.L331L|PRKAR1B_ENST00000544935.1_Silent_p.L331L|PRKAR1B_ENST00000537384.1_Silent_p.L331L|PRKAR1B_ENST00000360274.4_Silent_p.L331L|AC147651.2_ENST00000517177.1_RNA	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	331					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGGCCGGTTCAGCAGCAGTG	0.677																																																	0													11	13	13					7																	590220		2179	4271	6450	SO:0001819	synonymous_variant	5575			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.993G>A	7.37:g.590220C>T			Q8N422	Silent	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.L331	ENST00000406797.1	37	c.993	CCDS34579.1	7																																																																																			PRKAR1B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin		0.677	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1	C			590220	-1	no_errors	ENST00000360274	ensembl	human	known	70_37	silent	SNP	1.000	T	T	590220	C	T	590220	2	4	74	1	0	0	0	0	0	0	0	1	12531	813	29	1		1	PRKAR1B	7	590220	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		590220	158548443	427	11122										
COX19	90639	genome.wustl.edu	37	chr7	1009016	1009017	+	Stop_Codon_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtcttctcatcaaaattcaINStttttttgcctctgattttc					rs75087611		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:1009016_1009017insT	ENST00000344111.3	-	0	359_360					NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)							cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		ATCAAAATTCATTTTTTTGCCT	0.465																																																	0																																										SO:0001567	stop_retained_variant	90639			AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"Mitochondrial respiratory chain complex assembly factors"	28074	protein-coding gene	gene with protein product		610429	"COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.271dupA	7.37:g.1009023_1009023dupT	ENSP00000342015:p.*91Metext*24		A4FTX0	Frame_Shift_Ins	INS	pfam_CHCH,superfamily_MTCP1	p.*90fs	ENST00000344111.3	37	c.271_270	CCDS34582.1	7																																																																																			COX19	-	NULL		0.465	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX19	HGNC	protein_coding	OTTHUMT00000322812.1	-	NM_001031617		1009017	-1	no_errors	ENST00000344111	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T	T	1009017	-	T	1009016	7	5	74	1	0	1	1	0	0	0	0	0	3773	230	8	0	5	0	COX19	7	1009016	Stop_Codon_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	418796	1009016	158129647	428	11123										
TMEM184A	202915	genome.wustl.edu	37	chr7	1588237	1588237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggccgcaggagctccctggtGgtgaagtagaagaggaacag	17	8	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:1588237G>A	ENST00000297477.5	-	7	1048	c.732C>T	c.(730-732)acC>acT	p.T244T	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	244					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GCTCCCTGGTGGTGAAGTAGA	0.607																																																	0													128	158	148					7																	1588237		2199	4298	6497	SO:0001819	synonymous_variant	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.732C>T	7.37:g.1588237G>A			Q8TBQ6	Silent	SNP	pfam_Ost-alpha	p.T244	ENST00000297477.5	37	c.732	CCDS43537.1	7																																																																																			TMEM184A	-	pfam_Ost-alpha		0.607	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4	G	NM_152689		1588237	-1	no_errors	ENST00000297477	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1588237	G	A	1588237	2	1	74	1	0	0	0	0	0	0	0	1	16134	1335	47	4		4	TMEM184A	7	1588237	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	579221	1588237	157550426	429	11124										
CYTH3	9265	genome.wustl.edu	37	chr7	6210586	6210586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgttgagcatgatgatggCgaatgacagcacgtagcacg	15	7	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:6210586C>T	ENST00000350796.3	-	8	722	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	CYTH3_ENST00000396741.2_Missense_Mutation_p.A111T|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	196	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ATGATGATGGCGAATGACAGC	0.637																																																	0													176	125	142					7																	6210586		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.586G>A	7.37:g.6210586C>T	ENSP00000297044:p.Ala196Thr		A4D2N8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.A196T	ENST00000350796.3	37	c.586	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418553	0.83559	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.60040	0.22;0.22	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.93197	3.39	0.80722	D	1	P;P	0.51351	0.944;0.895	B;B	0.44085	0.44;0.235	T	0.82694	-0.0330	10	0.87932	D	0	.	18.8792	0.92350	0.0:1.0:0.0:0.0	.	111;196	B7Z2V9;O43739-2	.;.	T	196;111	ENSP00000297044:A196T;ENSP00000379967:A111T	ENSP00000297044:A196T	A	-	1	0	CYTH3	6177111	1.000000	0.71417	0.986000	0.45419	0.892000	0.51952	4.571000	0.60879	2.468000	0.83385	0.655000	0.94253	GCC	CYTH3	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.637	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	C	NM_004227		6210586	-1	no_errors	ENST00000350796	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6210586	C	T	6210586	3	4	74	1	0	0	0	0	1	0	0	0	4210	768	27	2	637	2	CYTH3	7	6210586	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4622349	6210586	152928077	430	11125										
DNAH11	8701	genome.wustl.edu	37	chr7	21744077	21744077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catgagagcattaagggattTcaatatgcccaaaatagtga	9	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:21744077T>G	ENST00000409508.3	+	38	6330	c.6299T>G	c.(6298-6300)tTc>tGc	p.F2100C	DNAH11_ENST00000328843.6_Missense_Mutation_p.F2107C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2107					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAAGGGATTTCAATATGCCC	0.423									Kartagener syndrome																																								0													61	60	61					7																	21744077		1910	4115	6025	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6299T>G	7.37:g.21744077T>G	ENSP00000475939:p.Phe2100Cys		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F2107C	ENST00000409508.3	37	c.6320		7	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441293	0.83993	.	.	ENSG00000105877	ENST00000328843	T	0.24350	1.86	5.44	5.44	0.79542	.	0.113396	0.64402	D	0.000005	T	0.49575	0.1565	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.53380	-0.8447	9	0.66056	D	0.02	.	15.7689	0.78149	0.0:0.0:0.0:1.0	.	2107	Q96DT5	DYH11_HUMAN	C	2107	ENSP00000330671:F2107C	ENSP00000330671:F2107C	F	+	2	0	DNAH11	21710602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.184000	0.69523	0.460000	0.39030	TTC	DNAH11	-	NULL		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	T	NM_003777		21744077	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21744077	T	G	21744077	3	3	74	1	0	0	0	0	1	0	0	0	4609	1783	62	5	6471	5	DNAH11	7	21744077	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	15533491	21744077	137394586	431	11126										
DPY19L1	23333	genome.wustl.edu	37	chr7	35050084	35050084	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actaaaatattcttaccttaAatatgtgccatatatgaaga	4	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:35050084A>T	ENST00000310974.4	-	6	685	c.541T>A	c.(541-543)Tta>Ata	p.L181I		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	181						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCTTACCTTAAATATGTGCCA	0.229																																																	0													21	20	21					7																	35050084		1933	4136	6069	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.541T>A	7.37:g.35050084A>T	ENSP00000308695:p.Leu181Ile		O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.L181I	ENST00000310974.4	37	c.541	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032848	0.75504	.	.	ENSG00000173852	ENST00000310974	T	0.62639	0.01	5.29	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.75347	0.3837	M	0.80982	2.52	0.47308	D	0.999383	D	0.69078	0.997	D	0.79108	0.992	T	0.75519	-0.3289	10	0.44086	T	0.13	.	7.1429	0.25566	0.8422:0.0:0.1578:0.0	.	181	Q2PZI1	D19L1_HUMAN	I	181	ENSP00000308695:L181I	ENSP00000308695:L181I	L	-	1	2	DPY19L1	35016609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.458000	0.60095	2.003000	0.58678	0.477000	0.44152	TTA	DPY19L1	-	pfam_Dpy-19		0.229	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	A			35050084	-1	no_errors	ENST00000310974	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35050084	A	T	35050084	3	4	74	1	0	0	0	0	1	0	0	0	4750	11	1	5	1554	5	DPY19L1	7	35050084	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	13306007	35050084	124088579	432	11127										
ANLN	54443	genome.wustl.edu	37	chr7	36456741	36456741	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctttgaaaataacattgttTttagaagaggacaaatcctt	6	6	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:36456741T>A	ENST00000265748.2	+	9	1796	c.1575T>A	c.(1573-1575)ttT>ttA	p.F525L	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Intron	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	525	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TAACATTGTTTTTAGAAGAGG	0.284																																																	0													58	61	60					7																	36456741		2203	4294	6497	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1575T>A	7.37:g.36456741T>A	ENSP00000265748:p.Phe525Leu		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F525L	ENST00000265748.2	37	c.1575	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329069	0.24167	.	.	ENSG00000011426	ENST00000265748	T	0.11495	2.77	4.78	2.4	0.29515	.	0.482216	0.22632	N	0.057567	T	0.07098	0.0180	L	0.46741	1.465	0.80722	D	1	B;B	0.16166	0.016;0.015	B;B	0.12156	0.007;0.005	T	0.19877	-1.0292	10	0.02654	T	1	-21.661	5.1632	0.15071	0.0:0.2427:0.0:0.7573	.	402;525	B4DSL6;Q9NQW6	.;ANLN_HUMAN	L	525	ENSP00000265748:F525L	ENSP00000265748:F525L	F	+	3	2	ANLN	36423266	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.274000	0.33132	0.875000	0.35847	0.383000	0.25322	TTT	ANLN	-	NULL		0.284	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	T	NM_018685		36456741	1	no_errors	ENST00000265748	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36456741	T	A	36456741	3	1	74	1	0	0	0	0	1	0	0	0	694	1838	64	5	1609	5	ANLN	7	36456741	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1406657	36456741	122681922	433	11128										
OGDH	4967	genome.wustl.edu	37	chr7	44746853	44746853	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccagcgggtgatcccagaaGatggccctgcagctcagaac	12	13	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:44746853G>A	ENST00000222673.5	+	21	2704	c.2662G>A	c.(2662-2664)Gat>Aat	p.D888N	OGDH_ENST00000444676.1_Missense_Mutation_p.D903N|OGDH_ENST00000449767.1_Missense_Mutation_p.D884N|OGDH_ENST00000439616.2_Missense_Mutation_p.D738N|OGDH_ENST00000543843.1_Missense_Mutation_p.D839N|OGDH_ENST00000447398.1_Missense_Mutation_p.D899N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	888					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GATCCCAGAAGATGGCCCTGC	0.562																																																	0													66	62	63					7																	44746853		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2662G>A	7.37:g.44746853G>A	ENSP00000222673:p.Asp888Asn		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.D888N	ENST00000222673.5	37	c.2662	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337376	0.24253	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.48	0.503	0.16940	.	0.603732	0.18733	N	0.132665	T	0.07683	0.0193	L	0.33710	1.025	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.34576	-0.9823	10	0.27785	T	0.31	-9.5233	9.2381	0.37479	0.6571:0.0:0.3429:0.0	.	683;738;884;899;888	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	N	738;884;899;903;888;839	ENSP00000398576:D738N;ENSP00000392878:D884N;ENSP00000388183:D899N;ENSP00000414662:D903N;ENSP00000222673:D888N;ENSP00000443821:D839N	ENSP00000222673:D888N	D	+	1	0	OGDH	44713378	0.000000	0.05858	0.455000	0.27031	0.970000	0.65996	0.886000	0.28241	-0.050000	0.13356	0.491000	0.48974	GAT	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44746853	1	no_errors	ENST00000222673	ensembl	human	known	70_37	missense	SNP	0.002	A	A	44746853	G	A	44746853	3	1	74	1	0	0	0	0	1	0	0	0	10863	942	33	1	2913	1	OGDH	7	44746853	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8290112	44746853	114391810	434	11129										
COBL	23242	genome.wustl.edu	37	chr7	51258745	51258745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacaacagctttttgtgtccGcaggtaattcacgaccaaac	7	12	1	0	rs549839734		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:51258745G>A	ENST00000265136.7	-	4	652	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	COBL_ENST00000395540.2_Missense_Mutation_p.R163W|COBL_ENST00000441453.1_Missense_Mutation_p.R163W|COBL_ENST00000395542.2_Missense_Mutation_p.R163W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	163					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTTTGTGTCCGCAGGTAATTC	0.473																																					NSCLC(189;2119 2138 12223 30818 34679)												0													49	46	47					7																	51258745		2203	4300	6503	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.487C>T	7.37:g.51258745G>A	ENSP00000265136:p.Arg163Trp		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R163W	ENST00000265136.7	37	c.487	CCDS34637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413113|3.413113	0.62511|0.62511	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	.|T;T;T;T;T	.|0.43294	.|0.95;1.96;0.95;0.95;0.95	5.78|5.78	3.88|3.88	0.44766|0.44766	.|Cordon-bleu domain (1);	.|0.000000	.|0.38111	.|N	.|0.001804	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.74258|0.74258	2.255|2.255	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.994;0.971;0.994;0.998;0.999	T|T	0.54200|0.54200	-0.8329|-0.8329	5|10	.|0.87932	.|D	.|0	.|.	9.3116|9.3116	0.37908|0.37908	0.0:0.1241:0.4308:0.4451|0.0:0.1241:0.4308:0.4451	.|.	.|163;163;163;163;163	.|O75128-3;O75128-5;O75128-7;O75128;O75128-2	.|.;.;.;COBL_HUMAN;.	V|W	81|163;30;163;163;163;147	.|ENSP00000265136:R163W;ENSP00000401204:R30W;ENSP00000378912:R163W;ENSP00000378910:R163W;ENSP00000399500:R163W	.|ENSP00000265136:R163W	A|R	-|-	2|1	0|2	COBL|COBL	51226239|51226239	0.037000|0.037000	0.19845|0.19845	0.936000|0.936000	0.37596|0.37596	0.991000|0.991000	0.79684|0.79684	0.621000|0.621000	0.24418|0.24418	0.703000|0.703000	0.31848|0.31848	0.557000|0.557000	0.71058|0.71058	GCG|CGG	COBL	-	pfam_Cordon-bleu_domain		0.473	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	G	NM_015198		51258745	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	missense	SNP	0.018	A	A	51258745	G	A	51258745	3	1	74	1	0	0	0	0	1	0	0	0	3658	1086	38	2	3338	2	COBL	7	51258745	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6511892	51258745	107879918	435	11130										
POM121L12	285877	genome.wustl.edu	37	chr7	53103854	53103854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagcccgccccgcaggccgcCccgccgcccaggagctcctg	13	22	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:53103854C>T	ENST00000408890.4	+	1	506	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	164										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cgcaggccgccccgccgcccA	0.726																																																	0													12	15	14					7																	53103854		1826	4031	5857	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.490C>T	7.37:g.53103854C>T	ENSP00000386133:p.Pro164Ser		Q8NDI9	Missense_Mutation	SNP	NULL	p.P164S	ENST00000408890.4	37	c.490	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.843361	0.00568	.	.	ENSG00000221900	ENST00000408890	T	0.20881	2.04	2.48	-1.76	0.08006	.	.	.	.	.	T	0.04137	0.0115	N	0.00960	-1.095	0.09310	N	1	P	0.34587	0.458	B	0.36418	0.224	T	0.18713	-1.0328	9	0.02654	T	1	.	0.3877	0.00405	0.2028:0.3312:0.1993:0.2667	.	164	Q8N7R1	P1L12_HUMAN	S	164	ENSP00000386133:P164S	ENSP00000386133:P164S	P	+	1	0	POM121L12	53071348	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.321000	0.08018	-0.486000	0.06744	-0.142000	0.14014	CCC	POM121L12	-	NULL		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	C	NM_182595		53103854	1	no_errors	ENST00000408890	ensembl	human	known	70_37	missense	SNP	0.000	T	T	53103854	C	T	53103854	3	4	74	1	0	0	0	0	1	0	0	0	12265	623	22	4	492	4	POM121L12	7	53103854	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1845109	53103854	106034809	436	11131										
CCT6A	908	genome.wustl.edu	37	chr7	56124052	56124052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaagcaagatgaacctattGatctcttcatgattgagatc	7	7	2	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:56124052G>A	ENST00000275603.4	+	5	778	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CCT6A_ENST00000540286.1_Missense_Mutation_p.D156N|CCT6A_ENST00000335503.3_Missense_Mutation_p.D142N|SNORA22_ENST00000383876.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	187					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAACCTATTGATCTCTTCAT	0.393																																																	0													118	109	112					7																	56124052		2203	4300	6503	SO:0001583	missense	908			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.559G>A	7.37:g.56124052G>A	ENSP00000275603:p.Asp187Asn		A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.D187N	ENST00000275603.4	37	c.559	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493637	0.84962	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.25414	1.8;1.8;1.8	5.72	5.72	0.89469	.	0.044816	0.85682	D	0.000000	T	0.44498	0.1296	L	0.59967	1.855	0.80722	D	1	P;P;B	0.38223	0.593;0.623;0.45	P;P;B	0.51101	0.659;0.558;0.445	T	0.21861	-1.0233	10	0.66056	D	0.02	-22.3279	18.9261	0.92546	0.0:0.0:1.0:0.0	.	156;142;187	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	N	187;142;156;45	ENSP00000275603:D187N;ENSP00000352019:D142N;ENSP00000438488:D156N	ENSP00000275603:D187N	D	+	1	0	CCT6A	56091546	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.278000	0.78587	2.710000	0.92621	0.556000	0.70494	GAT	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta		0.393	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	G	NM_001762		56124052	1	no_errors	ENST00000275603	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56124052	G	A	56124052	3	1	74	1	0	0	0	0	1	0	0	0	2962	1290	45	1	577	1	CCT6A	7	56124052	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3020198	56124052	103014611	437	11132										
TMEM120A	5447	genome.wustl.edu	37	chr7	75616592	75616592	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggaggaggaagggaaagccGcacataagcacctgccggag	16	9	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:75616592G>A	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	AGGGAAAGCCGCACATAAGCA	0.597																																																	0													38	47	44					7																	75616592		2064	4224	6288	SO:0001628	intergenic_variant	83862			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616592G>A			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	-	NULL	ENST00000461988.1	37	NULL	CCDS5579.1	7																																																																																			TMEM120A	-	-		0.597	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120A	HGNC	protein_coding	OTTHUMT00000252796.7	G	NM_000941		75616592	-1	no_errors	ENST00000338761	ensembl	human	known	70_37	rna	SNP	0.992	A	A	75616592	G	A	75616592	1	1	74	0	1	0	0	0	0	0	0	0	16063	1079	38	2		2	TMEM120A	7	75616592	IGR	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	19492540	75616592	83522071	438	11133										
CCDC146	57639	genome.wustl.edu	37	chr7	76908107	76908107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gttaaagaaatgaaagcaaaGgatcttgaaatcaggataca	9	4	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:76908107G>A	ENST00000285871.4	+	12	1606	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	CCDC146_ENST00000431197.1_Silent_p.K207K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	493										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAAAGCAAAGGATCTTGAAA	0.313																																																	0													71	68	69					7																	76908107		2202	4298	6500	SO:0001819	synonymous_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1479G>A	7.37:g.76908107G>A			A8K8X6|Q9P223	Silent	SNP	NULL	p.K493	ENST00000285871.4	37	c.1479	CCDS34671.1	7																																																																																			CCDC146	-	NULL		0.313	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	G	NM_020879		76908107	1	no_errors	ENST00000285871	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76908107	G	A	76908107	2	1	74	1	0	0	0	0	0	0	0	1	2785	991	35	4		4	CCDC146	7	76908107	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1291515	76908107	82230556	439	11134										
RSBN1L	222194	genome.wustl.edu	37	chr7	77326009	77326009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctgcagccgccggcagcaCcttcgcctcagagctatggc	12	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:77326009C>T	ENST00000334955.8	+	1	250	c.223C>T	c.(223-225)Cct>Tct	p.P75S	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	75						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCGGCAGCACCTTCGCCTCA	0.652																																																	0													17	26	23					7																	77326009		1958	4116	6074	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.223C>T	7.37:g.77326009C>T	ENSP00000334040:p.Pro75Ser		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.P75S	ENST00000334955.8	37	c.223	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629170	0.14257	.	.	ENSG00000187257	ENST00000334955	.	.	.	2.97	2.97	0.34412	.	0.648983	0.12154	N	0.494583	T	0.32346	0.0826	N	0.14661	0.345	0.48632	D	0.999687	B	0.21821	0.061	B	0.21917	0.037	T	0.12578	-1.0542	9	0.22109	T	0.4	-1.4199	8.1504	0.31137	0.0:0.7502:0.2498:0.0	.	75	Q6PCB5	RSBNL_HUMAN	S	75	.	ENSP00000334040:P75S	P	+	1	0	RSBN1L	77163945	0.678000	0.27586	0.829000	0.32907	0.149000	0.21700	1.399000	0.34566	1.943000	0.56356	0.313000	0.20887	CCT	RSBN1L	-	NULL		0.652	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	C	NM_198467		77326009	1	no_errors	ENST00000334955	ensembl	human	known	70_37	missense	SNP	0.642	T	T	77326009	C	T	77326009	3	4	74	1	0	0	0	0	1	0	0	0	13727	507	18	4	225	4	RSBN1L	7	77326009	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	417902	77326009	81812654	440	11135										
PCLO	27445	genome.wustl.edu	37	chr7	82595784	82595784	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctctctgggtttggcaatttAaacaaagccattcttgaatc	7	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:82595784A>C	ENST00000333891.9	-	4	3657	c.3320T>G	c.(3319-3321)tTa>tGa	p.L1107*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.L1107*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGCAATTTAAACAAAGCCA	0.383																																																	0													87	85	86					7																	82595784		1929	4144	6073	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3320T>G	7.37:g.82595784A>C	ENSP00000334319:p.Leu1107*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.L1107*	ENST00000333891.9	37	c.3320	CCDS47630.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	44|44	10.762885|10.762885	0.99463|0.99463	.|.	.|.	ENSG00000186472|ENSG00000186472	ENST00000431819|ENST00000333891;ENST00000423517	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.87932	.|D	.|0	.|.	15.8874|15.8874	0.79261|0.79261	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|1107	.|.	.|ENSP00000334319:L1107X	.|L	-|-	.|2	.|0	PCLO|PCLO	82433720|82433720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.873000|8.873000	0.92357|0.92357	2.193000|2.193000	0.70182|0.70182	0.482000|0.482000	0.46254|0.46254	.|TTA	PCLO	-	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	A	NM_014510		82595784	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	82595784	A	C	82595784	4	2	74	1	0	0	0	0	0	1	0	0	11607	372	13	5	12213	5	PCLO	7	82595784	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	5269775	82595784	76542879	441	11136										
ABCB1	5243	genome.wustl.edu	37	chr7	87179273	87179273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcgaatgttttcagctatcGtggtggcaaacaatacaggt	11	7	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:87179273G>A	ENST00000265724.3	-	14	1865	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	ABCB1_ENST00000543898.1_Missense_Mutation_p.T419M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	483	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCAGCTATCGTGGTGGCAAA	0.433																																																	0													216	197	203					7																	87179273		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1448C>T	7.37:g.87179273G>A	ENSP00000265724:p.Thr483Met		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T483M	ENST00000265724.3	37	c.1448	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475272	0.84640	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94046	-3.34;-3.34	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.047041	0.85682	D	0.000000	D	0.97763	0.9266	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.97729	1.0201	10	0.87932	D	0	-23.7876	20.8598	0.99761	0.0:0.0:1.0:0.0	.	419;483	B5AK60;P08183	.;MDR1_HUMAN	M	264;483;419	ENSP00000265724:T483M;ENSP00000444095:T419M	ENSP00000265724:T483M	T	-	2	0	ABCB1	87017209	1.000000	0.71417	0.974000	0.42286	0.726000	0.41606	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	ACG	ABCB1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	G	NM_000927		87179273	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87179273	G	A	87179273	3	1	74	1	0	0	0	0	1	0	0	0	40	1145	40	2	2458	2	ABCB1	7	87179273	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4583489	87179273	71959390	442	11137										
AKAP9	10142	genome.wustl.edu	37	chr7	91631813	91631813	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaaaactttgaagttaactAtcaagagttacaagaggagt	8	4	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:91631813A>T	ENST00000359028.2	+	9	2843	c.2618A>T	c.(2617-2619)tAt>tTt	p.Y873F	AKAP9_ENST00000358100.2_Missense_Mutation_p.Y873F|AKAP9_ENST00000356239.3_Missense_Mutation_p.Y861F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	873	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGTTAACTATCAAGAGTTA	0.299			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													50	55	53					7																	91631813		2201	4294	6495	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2618A>T	7.37:g.91631813A>T	ENSP00000351922:p.Tyr873Phe		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.Y873F	ENST00000359028.2	37	c.2618		7	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039615	0.35989	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05996	3.4;3.39;3.36	5.77	5.77	0.91146	.	0.000000	0.37809	N	0.001932	T	0.13030	0.0316	L	0.56769	1.78	0.37789	D	0.927308	P;P;P;P	0.48350	0.473;0.663;0.859;0.909	B;B;B;P	0.49421	0.157;0.372;0.435;0.61	T	0.01198	-1.1421	10	0.72032	D	0.01	.	11.4753	0.50295	0.8658:0.0:0.0:0.1342	.	873;861;861;873	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	F	861;873;873;873;873	ENSP00000348573:Y861F;ENSP00000351922:Y873F;ENSP00000350813:Y873F	ENSP00000348573:Y861F	Y	+	2	0	AKAP9	91469749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.746000	0.38288	2.326000	0.78906	0.533000	0.62120	TAT	AKAP9	-	NULL		0.299	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		A	NM_005751		91631813	1	no_errors	ENST00000359028	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91631813	A	T	91631813	3	4	74	1	0	0	0	0	1	0	0	0	459	449	16	5	2612	5	AKAP9	7	91631813	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	4452540	91631813	67506850	443	11138										
COL1A2	1278	genome.wustl.edu	37	chr7	94039761	94039761	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggccccaaggtcctcctggTcccagtggtgaagaaggaaa	14	11	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:94039761T>A	ENST00000297268.6	+	21	1590	c.1119T>A	c.(1117-1119)ggT>ggA	p.G373G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	373					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCTCCTGGTCCCAGTGGTG	0.498										HNSCC(75;0.22)																																							0													14	15	15					7																	94039761		2160	4184	6344	SO:0001819	synonymous_variant	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1119T>A	7.37:g.94039761T>A			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.G373	ENST00000297268.6	37	c.1119	CCDS34682.1	7																																																																																			COL1A2	-	NULL		0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	T	NM_000089		94039761	1	no_errors	ENST00000297268	ensembl	human	known	70_37	silent	SNP	0.928	A	A	94039761	T	A	94039761	2	1	74	1	0	0	0	0	0	0	0	1	3683	1654	58	5		5	COL1A2	7	94039761	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	2407948	94039761	65098902	444	11139										
ZKSCAN5	23660	genome.wustl.edu	37	chr7	99123897	99123897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtgtgcggaaaggctttcCgggtgagttcccacctggtt	15	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:99123897C>T	ENST00000394170.2	+	6	1485	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R412W|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R412W	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGGCTTTCCGGGTGAGTTC	0.577																																																	0													142	140	141					7																	99123897		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1234C>T	7.37:g.99123897C>T	ENSP00000377725:p.Arg412Trp		A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R412W	ENST00000394170.2	37	c.1234	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771008	0.69992	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.07567	3.18;3.18;3.18	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.261790	0.27567	N	0.018793	T	0.23532	0.0569	M	0.70787	2.145	0.31638	N	0.648206	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.04825	-1.0924	10	0.42905	T	0.14	.	8.877	0.35352	0.0:0.8995:0.0:0.1005	.	412;412	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	W	412	ENSP00000322872:R412W;ENSP00000392104:R412W;ENSP00000377725:R412W	ENSP00000322872:R412W	R	+	1	2	ZKSCAN5	98961833	0.000000	0.05858	0.987000	0.45799	0.997000	0.91878	0.286000	0.18902	2.581000	0.87130	0.655000	0.94253	CGG	ZKSCAN5	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	C	NM_014569		99123897	1	no_errors	ENST00000326775	ensembl	human	known	70_37	missense	SNP	0.937	T	T	99123897	C	T	99123897	3	4	74	1	0	0	0	0	1	0	0	0	17720	643	23	2	1252	2	ZKSCAN5	7	99123897	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5084136	99123897	60014766	445	11140										
PVRIG	79037	genome.wustl.edu	37	chr7	99818034	99818034	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgctgcaagtttgcgtcctTccctgagggctcctgggagg	14	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:99818034T>A	ENST00000317271.2	+	3	779	c.416T>A	c.(415-417)tTc>tAc	p.F139Y	GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	139						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGCGTCCTTCCCTGAGGGC	0.692																																																	0													7	9	8					7																	99818034		2106	4124	6230	SO:0001583	missense	79037			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.416T>A	7.37:g.99818034T>A	ENSP00000316675:p.Phe139Tyr		D6W5U9|Q9BVK3	Missense_Mutation	SNP	NULL	p.F139Y	ENST00000317271.2	37	c.416	CCDS5690.1	7	.	.	.	.	.	.	.	.	.	.	t	12.94	2.088032	0.36855	.	.	ENSG00000213413	ENST00000317271	T	0.59224	0.28	2.78	2.78	0.32641	.	.	.	.	.	T	0.62344	0.2420	L	0.32530	0.975	0.21861	N	0.999504	D	0.67145	0.996	D	0.77557	0.99	T	0.48175	-0.9058	9	0.87932	D	0	.	7.442	0.27190	0.0:0.0:0.0:1.0	.	139	Q6DKI7	PVRIG_HUMAN	Y	139	ENSP00000316675:F139Y	ENSP00000316675:F139Y	F	+	2	0	PVRIG	99655970	0.082000	0.21442	0.989000	0.46669	0.039000	0.13416	0.539000	0.23175	1.544000	0.49359	0.409000	0.27619	TTC	PVRIG	-	NULL		0.692	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRIG	HGNC	protein_coding	OTTHUMT00000345870.2	T	NM_024070		99818034	1	no_errors	ENST00000317271	ensembl	human	known	70_37	missense	SNP	0.917	A	A	99818034	T	A	99818034	3	1	74	1	0	0	0	0	1	0	0	0	12868	1783	62	5	422	5	PVRIG	7	99818034	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	694137	99818034	59320629	446	11141										
MUC17	140453	genome.wustl.edu	37	chr7	100674975	100674975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caccaaccctgagatgacctCgattgagtccagtgtgactt	9	12	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:100674975C>T	ENST00000306151.4	+	3	342	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	Ser-rich.				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.S93L(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)					GAGATGACCTCGATTGAGTCC	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											120	112	115					7																	100674975		2203	4300	6503	SO:0001583	missense	140453			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.278C>T	7.37:g.100674975C>T	ENSP00000302716:p.Ser93Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S93L	ENST00000306151.4	37	c.278	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.998900	0.02128	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.678	-1.36	0.09085	.	.	.	.	.	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	8	0.38643	T	0.18	.	.	.	.	.	93	Q685J3	MUC17_HUMAN	L	93	ENSP00000302716:S93L	ENSP00000302716:S93L	S	+	2	0	MUC17	100461695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.032000	0.03574	-3.036000	0.00264	-1.605000	0.00808	TCG	MUC17	-	NULL		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100674975	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.000	T	T	100674975	C	T	100674975	3	4	74	1	0	0	0	0	1	0	0	0	9997	893	31	1	288	1	MUC17	7	100674975	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	856941	100674975	58463688	447	11142										
LAMB1	3912	genome.wustl.edu	37	chr7	107621098	107621098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccatccacaggggcacattCgctggcatgaccatagcaga	10	13	0	2	rs571064446		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:107621098C>T	ENST00000222399.6	-	8	1065	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	LAMB1_ENST00000393561.1_Missense_Mutation_p.E303K|LAMB1_ENST00000393560.1_Missense_Mutation_p.E279K	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	279	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGGGCACATTCGCTGGCATGA	0.418													C|||	1	0.000199681	8e-04	0	5008	,	,		20102	0		0	False		,,,				2504	0																0													153	131	139					7																	107621098		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.835G>A	7.37:g.107621098C>T	ENSP00000222399:p.Glu279Lys		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E279K	ENST00000222399.6	37	c.835	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.251815	0.95336	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.61274	0.12;0.12;0.12	5.96	5.09	0.68999	EGF-like, laminin (3);	.	.	.	.	T	0.66925	0.2839	L	0.46614	1.455	0.58432	D	0.999999	P;D;D	0.64830	0.576;0.994;0.982	B;P;P	0.60068	0.111;0.868;0.542	T	0.68194	-0.5473	9	0.49607	T	0.09	.	15.3845	0.74687	0.0:0.9333:0.0:0.0667	.	279;279;303	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	K	303;279;279	ENSP00000377191:E303K;ENSP00000222399:E279K;ENSP00000377190:E279K	ENSP00000222399:E279K	E	-	1	0	LAMB1	107408334	1.000000	0.71417	0.907000	0.35723	0.951000	0.60555	4.659000	0.61504	1.533000	0.49186	0.655000	0.94253	GAA	LAMB1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107621098	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107621098	C	T	107621098	3	4	74	1	0	0	0	0	1	0	0	0	8630	893	31	1	4633	1	LAMB1	7	107621098	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6946123	107621098	51517565	448	11143										
CAPZA2	830	genome.wustl.edu	37	chr7	116544251	116544251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtattgataacagaacatggCgacttgggaaatggaaagtt	12	4	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:116544251C>T	ENST00000361183.3	+	5	379	c.240C>T	c.(238-240)ggC>ggT	p.G80G	CAPZA2_ENST00000490693.1_Silent_p.G80G|CAPZA2_ENST00000458284.2_Silent_p.G80G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	80					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CAGAACATGGCGACTTGGGAA	0.318																																																	0													83	83	83					7																	116544251		2203	4300	6503	SO:0001819	synonymous_variant	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.240C>T	7.37:g.116544251C>T			B4DG50	Silent	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.G80	ENST00000361183.3	37	c.240	CCDS5768.1	7																																																																																			CAPZA2	-	pfam_WASH_F-actin_cap_alpha		0.318	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	C	NM_006136		116544251	1	no_errors	ENST00000361183	ensembl	human	known	70_37	silent	SNP	0.855	T	T	116544251	C	T	116544251	2	4	74	1	0	0	0	0	0	0	0	1	2646	755	27	2		2	CAPZA2	7	116544251	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	8923153	116544251	42594412	449	11144										
CTTNBP2	83992	genome.wustl.edu	37	chr7	117424398	117424398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcttcattaagcagcattgAtaataaagtgacatttccct	5	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:117424398A>C	ENST00000160373.3	-	5	2270	c.2179T>G	c.(2179-2181)Tca>Gca	p.S727A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	727					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCAGCATTGATAATAAAGTG	0.483																																																	0													121	129	126					7																	117424398		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2179T>G	7.37:g.117424398A>C	ENSP00000160373:p.Ser727Ala		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S727A	ENST00000160373.3	37	c.2179	CCDS5774.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.415111|4.415111	0.83449|0.83449	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.64618	.|-0.11	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66147|0.66147	0.2760|0.2760	N|N	0.13352|0.13352	0.335|0.335	0.46749|0.46749	D|D	0.999183|0.999183	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	T|T	0.72577|0.72577	-0.4251|-0.4251	5|10	.|0.72032	.|D	.|0.01	3.8394|3.8394	15.8142|15.8142	0.78586|0.78586	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|727	.|Q8WZ74	.|CTTB2_HUMAN	S|A	214|727	.|ENSP00000160373:S727A	.|ENSP00000160373:S727A	I|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117211634|117211634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.631000|8.631000	0.90991|0.90991	2.184000|2.184000	0.69523|0.69523	0.533000|0.533000	0.62120|0.62120	ATC|TCA	CTTNBP2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	A	NM_033427		117424398	-1	no_errors	ENST00000160373	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117424398	A	C	117424398	3	2	74	1	0	0	0	0	1	0	0	0	4050	333	12	5	2888	5	CTTNBP2	7	117424398	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	880147	117424398	41714265	450	11145										
KCND2	3751	genome.wustl.edu	37	chr7	119915228	119915228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttcgagaacccccacaccaGcacgatggccctggtgttct	9	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:119915228G>A	ENST00000331113.4	+	1	1507	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	181					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCCCACACCAGCACGATGGCC	0.607																																																	0													77	75	75					7																	119915228		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.542G>A	7.37:g.119915228G>A	ENSP00000333496:p.Ser181Asn		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S181N	ENST00000331113.4	37	c.542	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025706	0.54683	.	.	ENSG00000184408	ENST00000331113	D	0.97710	-4.5	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97657	0.9232	M	0.84683	2.71	0.49915	D	0.999839	B	0.32040	0.353	B	0.36418	0.224	D	0.97295	0.9927	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	181	Q9NZV8	KCND2_HUMAN	N	181	ENSP00000333496:S181N	.	S	+	2	0	KCND2	119702464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	2.641000	0.89580	0.563000	0.77884	AGC	KCND2	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv4		0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	G	NM_012281		119915228	1	no_errors	ENST00000331113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119915228	G	A	119915228	3	1	74	1	0	0	0	0	1	0	0	0	8039	971	34	4	544	4	KCND2	7	119915228	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2490830	119915228	39223435	451	11146										
FEZF1	389549	genome.wustl.edu	37	chr7	121943727	121943727	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caagtgaaaactttgggcttGgcattaggagagcctcggct	13	8	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:121943727G>T	ENST00000442488.2	-	1	832	c.765C>A	c.(763-765)gcC>gcA	p.A255A	FEZF1_ENST00000427185.2_Silent_p.A205A|FEZF1_ENST00000331178.4_Silent_p.A255A|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	255					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTTTGGGCTTGGCATTAGGAG	0.507																																																	0													125	136	132					7																	121943727		2203	4300	6503	SO:0001819	synonymous_variant	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.765C>A	7.37:g.121943727G>T			A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A255	ENST00000442488.2	37	c.765	CCDS34741.2	7																																																																																			FEZF1	-	NULL		0.507	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	G	NM_001024613		121943727	-1	no_errors	ENST00000442488	ensembl	human	known	70_37	silent	SNP	0.992	T	T	121943727	G	T	121943727	2	4	74	1	0	0	0	0	0	0	0	1	5843	1335	47	4		4	FEZF1	7	121943727	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2028499	121943727	37194936	452	11147										
WASL	8976	genome.wustl.edu	37	chr7	123332484	123332485	+	Frame_Shift_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggccgactgttctgctccacINStttttttagctgagcaccct							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:123332484_123332485insT	ENST00000223023.4	-	9	1595_1596	c.1263_1264insA	c.(1261-1266)aaagtgfs	p.V422fs		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	422	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGCTCCACTTTTTTTAGCT	0.47																																																	0																																										SO:0001589	frameshift_variant	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1264dupA	7.37:g.123332491_123332491dupT	ENSP00000223023:p.Val422fs		A1JUI9|Q7Z746	Frame_Shift_Ins	INS	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.V421fs	ENST00000223023.4	37	c.1264_1263	CCDS34743.1	7																																																																																			WASL	-	pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom		0.47	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	-	NM_003941		123332485	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	123332485	-	T	123332484	7	5	74	1	0	1	1	0	0	0	0	0	17287	565	20	0	265	0	WASL	7	123332484	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	1388757	123332484	35806179	453	11148										
SPAM1	6677	genome.wustl.edu	37	chr7	123594460	123594460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctgctacactctatgtgcGcaatcgagttcgggaagcca	11	11	1	0	rs532636427		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:123594460G>A	ENST00000439500.1	+	4	1449	c.836G>A	c.(835-837)cGc>cAc	p.R279H	SPAM1_ENST00000340011.5_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	279					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCTATGTGCGCAATCGAGTT	0.428																																																	0													97	90	92					7																	123594460		2203	4299	6502	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.836G>A	7.37:g.123594460G>A	ENSP00000402123:p.Arg279His		Q8TC30	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase	p.R279H	ENST00000439500.1	37	c.836	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.362372	0.95877	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.72624	2.21	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.39941	-0.9589	9	.	.	.	-31.722	19.8676	0.96824	0.0:0.0:1.0:0.0	.	279;279	Q8TC30;P38567	.;HYALP_HUMAN	H	279	ENSP00000386028:R279H;ENSP00000417934:R279H;ENSP00000345849:R279H;ENSP00000402123:R279H;ENSP00000223028:R279H	.	R	+	2	0	SPAM1	123381696	1.000000	0.71417	0.021000	0.16686	0.356000	0.29392	7.998000	0.88491	2.941000	0.99782	0.655000	0.94253	CGC	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	G			123594460	1	no_errors	ENST00000340011	ensembl	human	known	70_37	missense	SNP	0.991	A	A	123594460	G	A	123594460	3	1	74	1	0	0	0	0	1	0	0	0	15016	1087	38	2	838	2	SPAM1	7	123594460	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	261976	123594460	35544203	454	11149										
AHCYL2	23382	genome.wustl.edu	37	chr7	129029479	129029479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tattgggccttttcagaaatGcctgcattgatggctttgag	11	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:129029479G>A	ENST00000325006.3	+	4	678	c.624G>A	c.(622-624)atG>atA	p.M208I	AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000474594.1_Missense_Mutation_p.M105I|AHCYL2_ENST00000446544.2_Missense_Mutation_p.M207I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.M106I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.M105I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.M127I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	208					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTCAGAAATGCCTGCATTGA	0.398																																					Pancreas(160;1736 1964 29875 40941 45605)												0													58	61	60					7																	129029479		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.624G>A	7.37:g.129029479G>A	ENSP00000315931:p.Met208Ile		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.M208I	ENST00000325006.3	37	c.624	CCDS5812.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.521581|4.521581	0.85600|0.85600	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94460|0.94460	0.8217|0.8217	H|H	0.99058|0.99058	4.415|4.415	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999;0.999	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999;0.998	D|D	0.96353|0.96353	0.9260|0.9260	5|10	.|0.87932	.|D	.|0	-26.8005|-26.8005	18.8499|18.8499	0.92224|0.92224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|105;106;208;105;207	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	Y|I	115|208;207;127;105;106;105;106	.|ENSP00000315931:M208I;ENSP00000413639:M207I;ENSP00000431787:M127I;ENSP00000420459:M105I;ENSP00000405267:M106I;ENSP00000420801:M105I;ENSP00000419608:M106I	.|ENSP00000315931:M208I	C|M	+|+	2|3	0|0	AHCYL2|AHCYL2	128816715|128816715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.976000|7.976000	0.88070|0.88070	2.770000|2.770000	0.95276|0.95276	0.563000|0.563000	0.77884|0.77884	TGC|ATG	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.398	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	G			129029479	1	no_errors	ENST00000325006	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129029479	G	A	129029479	3	1	74	1	0	0	0	0	1	0	0	0	411	1319	46	4	760	4	AHCYL2	7	129029479	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5435019	129029479	30109184	455	11150										
TSGA13	114960	genome.wustl.edu	37	chr7	130365827	130365827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccgaaggttctctagaacaAattttgattgcccgactgca	9	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:130365827A>C	ENST00000456951.1	-	5	982	c.131T>G	c.(130-132)tTt>tGt	p.F44C	TSGA13_ENST00000356588.3_Missense_Mutation_p.F44C			Q96PP4	TSG13_HUMAN	testis specific, 13	44										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CTCTAGAACAAATTTTGATTG	0.418																																																	0													141	129	133					7																	130365827		2203	4300	6503	SO:0001583	missense	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.131T>G	7.37:g.130365827A>C	ENSP00000406047:p.Phe44Cys		B3KSC9	Missense_Mutation	SNP	NULL	p.F44C	ENST00000456951.1	37	c.131	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235939	0.22626	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	5.04	5.04	0.67666	.	0.000000	0.44902	D	0.000407	T	0.60483	0.2272	L	0.34521	1.04	0.36385	D	0.862148	D	0.89917	1.0	D	0.91635	0.999	T	0.69266	-0.5190	9	0.72032	D	0.01	-12.0601	11.104	0.48193	1.0:0.0:0.0:0.0	.	44	Q96PP4	TSG13_HUMAN	C	44	.	ENSP00000348996:F44C	F	-	2	0	TSGA13	130016367	1.000000	0.71417	0.970000	0.41538	0.035000	0.12851	4.003000	0.57061	2.113000	0.64589	0.455000	0.32223	TTT	TSGA13	-	NULL		0.418	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	A	NM_052933		130365827	-1	no_errors	ENST00000356588	ensembl	human	known	70_37	missense	SNP	0.998	C	C	130365827	A	C	130365827	3	2	74	1	0	0	0	0	1	0	0	0	16650	14	1	5	716	5	TSGA13	7	130365827	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1336348	130365827	28772836	456	11151										
PLXNA4	91584	genome.wustl.edu	37	chr7	131872231	131872231	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaggggccctctgagttaccTgtggaagagacagggctgct	15	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:131872231T>C	ENST00000359827.3	-	15	3954	c.2992A>G	c.(2992-2994)Agg>Ggg	p.R998G	PLXNA4_ENST00000321063.4_Splice_Site_p.R998G			Q9HCM2	PLXA4_HUMAN	plexin A4	998	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGTTACCTGTGGAAGAGA	0.532																																																	0													227	243	238					7																	131872231		2039	4203	6242	SO:0001630	splice_region_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2993+1A>G	7.37:g.131872231T>C			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R998G	ENST00000359827.3	37	c.2992	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595744	0.46318	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.75938	-0.98;-0.98	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043783	0.85682	D	0.000000	T	0.63510	0.2517	L	0.38733	1.17	0.58432	D	0.999999	B	0.10296	0.003	B	0.11329	0.006	T	0.58317	-0.7657	10	0.23302	T	0.38	.	11.4338	0.50056	0.1349:0.0:0.0:0.8651	.	998	Q9HCM2	PLXA4_HUMAN	G	998	ENSP00000323194:R998G;ENSP00000352882:R998G	ENSP00000323194:R998G	R	-	1	2	PLXNA4	131522771	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.515000	0.45512	2.114000	0.64651	0.454000	0.30748	AGG	PLXNA4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.532	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	T	NM_181775	Missense_Mutation	131872231	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131872231	T	C	131872231	5	2	74	1	0	0	0	0	0	0	1	0	12146	1594	55	5	2764	5	PLXNA4	7	131872231	Splice_Site	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1506404	131872231	27266432	457	11152										
EXOC4	60412	genome.wustl.edu	37	chr7	133622807	133622807	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaagtcagctttctccaatCtttctacatcccagagtaag	5	12	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:133622807C>G	ENST00000253861.4	+	14	2220	c.2191C>G	c.(2191-2193)Ctt>Gtt	p.L731V	EXOC4_ENST00000541309.1_Missense_Mutation_p.L19V|EXOC4_ENST00000545148.1_Missense_Mutation_p.L341V|EXOC4_ENST00000539845.1_Missense_Mutation_p.L630V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	731					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTTCTCCAATCTTTCTACATC	0.453																																																	0													89	75	80					7																	133622807		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2191C>G	7.37:g.133622807C>G	ENSP00000253861:p.Leu731Val		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.L731V	ENST00000253861.4	37	c.2191	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966553	0.18659	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.87	5.0	0.66597	.	0.064555	0.64402	D	0.000005	T	0.54464	0.1860	L	0.38838	1.175	0.42839	D	0.994044	B;P;P	0.41393	0.037;0.684;0.748	B;P;B	0.49332	0.02;0.607;0.247	T	0.49390	-0.8945	9	0.18276	T	0.48	.	11.3621	0.49648	0.0:0.8617:0.0:0.1383	.	263;341;731	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	V	731;350;630;341;19	.	ENSP00000253861:L731V	L	+	1	0	EXOC4	133273347	0.989000	0.36119	0.946000	0.38457	0.773000	0.43773	2.782000	0.47758	1.632000	0.50472	0.655000	0.94253	CTT	EXOC4	-	NULL		0.453	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	C	NM_021807		133622807	1	no_errors	ENST00000253861	ensembl	human	known	70_37	missense	SNP	0.994	G	G	133622807	C	G	133622807	3	3	74	1	0	0	0	0	1	0	0	0	5318	913	32	1	2254	1	EXOC4	7	133622807	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1750576	133622807	25515856	458	11153										
LRGUK	136332	genome.wustl.edu	37	chr7	133848242	133848242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcagataagcagcctccaaGgcttagagaatcatgacctc	8	11	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:133848242G>T	ENST00000285928.2	+	7	958	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CAGCCTCCAAGGCTTAGAGAA	0.448																																																	0													88	89	89					7																	133848242		2203	4300	6503	SO:0001583	missense	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.889G>T	7.37:g.133848242G>T	ENSP00000285928:p.Gly297Cys		Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.G297C	ENST00000285928.2	37	c.889	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326059	0.81580	.	.	ENSG00000155530	ENST00000285928	T	0.59502	0.26	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.87617	2.895	0.58432	D	0.999995	P	0.42161	0.772	P	0.48114	0.567	T	0.78262	-0.2272	10	0.87932	D	0	-7.332	18.3174	0.90226	0.0:0.0:1.0:0.0	.	297	Q96M69	LRGUK_HUMAN	C	297	ENSP00000285928:G297C	ENSP00000285928:G297C	G	+	1	0	LRGUK	133498782	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.512000	0.81728	2.613000	0.88420	0.555000	0.69702	GGC	LRGUK	-	pfam_Leu-rich_rpt		0.448	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	G	NM_144648		133848242	1	no_errors	ENST00000285928	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133848242	G	T	133848242	3	4	74	1	0	0	0	0	1	0	0	0	8966	1000	35	4	915	4	LRGUK	7	133848242	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	225435	133848242	25290421	459	11154										
LRGUK	136332	genome.wustl.edu	37	chr7	133881815	133881815	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agggacaccgtagaaggtatCgcaagagatggtttggcaag	15	6	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:133881815C>T	ENST00000285928.2	+	13	1572	c.1503C>T	c.(1501-1503)atC>atT	p.I501I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	501	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TAGAAGGTATCGCAAGAGATG	0.363																																																	0													183	169	174					7																	133881815		2203	4300	6503	SO:0001819	synonymous_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1503C>T	7.37:g.133881815C>T			Q2M3I1	Silent	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.I501	ENST00000285928.2	37	c.1503	CCDS5830.1	7																																																																																			LRGUK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.363	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	C	NM_144648		133881815	1	no_errors	ENST00000285928	ensembl	human	known	70_37	silent	SNP	0.992	T	T	133881815	C	T	133881815	2	4	74	1	0	0	0	0	0	0	0	1	8966	874	31	1		1	LRGUK	7	133881815	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	33573	133881815	25256848	460	11155										
FAM180A	389558	genome.wustl.edu	37	chr7	135418889	135418889	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcctttcaaagtcttctttcTtgaggatgccagggtggctg	11	9	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:135418889T>G	ENST00000338588.3	-	3	621	c.356A>C	c.(355-357)aAg>aCg	p.K119T	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.K119T	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	119						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GTCTTCTTTCTTGAGGATGCC	0.612																																																	0													141	120	127					7																	135418889		2203	4300	6503	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.356A>C	7.37:g.135418889T>G	ENSP00000342336:p.Lys119Thr		B2RP85	Missense_Mutation	SNP	NULL	p.K119T	ENST00000338588.3	37	c.356	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820380	0.71028	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.33216	1.42;1.42	5.65	-0.847	0.10730	.	0.513748	0.23861	N	0.043849	T	0.24198	0.0586	L	0.60455	1.87	0.34120	D	0.664038	B	0.15473	0.013	B	0.15052	0.012	T	0.08638	-1.0712	10	0.54805	T	0.06	-11.3555	5.4803	0.16719	0.0:0.3463:0.1467:0.507	.	119	Q6UWF9	F180A_HUMAN	T	119	ENSP00000342336:K119T;ENSP00000395467:K119T	ENSP00000342336:K119T	K	-	2	0	FAM180A	135069429	0.996000	0.38824	0.914000	0.36105	0.958000	0.62258	0.530000	0.23036	-0.132000	0.11557	0.459000	0.35465	AAG	FAM180A	-	NULL		0.612	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2	T	NM_205855		135418889	-1	no_errors	ENST00000338588	ensembl	human	known	70_37	missense	SNP	0.821	G	G	135418889	T	G	135418889	3	3	74	1	0	0	0	0	1	0	0	0	5522	1609	56	5	169	5	FAM180A	7	135418889	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1537074	135418889	23719774	461	11156										
FAM180A	389558	genome.wustl.edu	37	chr7	135418976	135418976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgacgttgttgcagacggtgCggaagtctgaggccttccgc	15	10	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:135418976C>T	ENST00000338588.3	-	3	534	c.269G>A	c.(268-270)cGc>cAc	p.R90H	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R90H	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	90						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GCAGACGGTGCGGAAGTCTGA	0.592																																																	0													114	109	111					7																	135418976		2203	4300	6503	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.269G>A	7.37:g.135418976C>T	ENSP00000342336:p.Arg90His		B2RP85	Missense_Mutation	SNP	NULL	p.R90H	ENST00000338588.3	37	c.269	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.347858	0.05208	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.31247	1.5;1.5	5.35	-8.33	0.00992	.	0.997469	0.08131	N	0.993142	T	0.09730	0.0239	N	0.02142	-0.665	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.41893	-0.9483	10	0.21014	T	0.42	9.7488	11.4306	0.50038	0.0:0.2592:0.0895:0.6512	.	90	Q6UWF9	F180A_HUMAN	H	90	ENSP00000342336:R90H;ENSP00000395467:R90H	ENSP00000342336:R90H	R	-	2	0	FAM180A	135069516	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.871000	0.04223	-1.900000	0.01097	-2.650000	0.00149	CGC	FAM180A	-	NULL		0.592	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2	C	NM_205855		135418976	-1	no_errors	ENST00000338588	ensembl	human	known	70_37	missense	SNP	0.001	T	T	135418976	C	T	135418976	3	4	74	1	0	0	0	0	1	0	0	0	5522	768	27	2	256	2	FAM180A	7	135418976	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	87	135418976	23719687	462	11157										
CHRM2	1129	genome.wustl.edu	37	chr7	136700197	136700197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtacggctattgcagccttCtatttgccagtgatcatcat	9	10	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:136700197C>G	ENST00000445907.2	+	3	1113	c.585C>G	c.(583-585)ttC>ttG	p.F195L	CHRM2_ENST00000453373.1_Missense_Mutation_p.F195L|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F195L|CHRM2_ENST00000401861.1_Missense_Mutation_p.F195L|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.F195L|CHRM2_ENST00000397608.3_Missense_Mutation_p.F195L|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	195					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTGCAGCCTTCTATTTGCCAG	0.483																																																	0													76	68	71					7																	136700197		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.585C>G	7.37:g.136700197C>G	ENSP00000399745:p.Phe195Leu		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.F195L	ENST00000445907.2	37	c.585	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545505	0.65198	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89570	0.6753	M	0.91140	3.18	0.58432	D	0.999999	D	0.56035	0.974	P	0.58130	0.833	D	0.91613	0.5304	10	0.87932	D	0	-0.8944	19.4315	0.94772	0.0:1.0:0.0:0.0	.	195	P08172	ACM2_HUMAN	L	195	ENSP00000399745:F195L;ENSP00000415386:F195L;ENSP00000319984:F195L;ENSP00000380733:F195L;ENSP00000384937:F195L;ENSP00000384401:F195L	ENSP00000319984:F195L	F	+	3	2	CHRM2	136350737	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.881000	0.56152	2.600000	0.87896	0.655000	0.94253	TTC	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	C			136700197	1	no_errors	ENST00000320658	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136700197	C	G	136700197	3	3	74	1	0	0	0	0	1	0	0	0	3382	912	32	1	587	1	CHRM2	7	136700197	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1281221	136700197	22438466	463	11158										
TRIM24	8805	genome.wustl.edu	37	chr7	138252327	138252327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgagatatccaccaaaccaGaacataccacgacaagcaat	5	13	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:138252327G>C	ENST00000343526.4	+	10	1847	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	TRIM24_ENST00000415680.2_Missense_Mutation_p.Q510H|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	544					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCAAACCAGAACATACCAC	0.438																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													126	113	117					7																	138252327		2203	4300	6503	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1632G>C	7.37:g.138252327G>C	ENSP00000340507:p.Gln544His		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.Q544H	ENST00000343526.4	37	c.1632	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292885	0.80914	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.77877	-1.1;-1.13	5.66	5.66	0.87406	.	0.313020	0.35124	N	0.003432	D	0.85729	0.5764	L	0.51422	1.61	0.52099	D	0.999941	D;D	0.71674	0.996;0.998	D;D	0.80764	0.986;0.994	D	0.84930	0.0859	10	0.48119	T	0.1	-2.784	19.3403	0.94337	0.0:0.0:1.0:0.0	.	544;510	O15164;O15164-2	TIF1A_HUMAN;.	H	544;455;510;468	ENSP00000340507:Q544H;ENSP00000390829:Q510H	ENSP00000340507:Q544H	Q	+	3	2	TRIM24	137902867	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	4.665000	0.61547	2.672000	0.90937	0.591000	0.81541	CAG	TRIM24	-	NULL		0.438	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	G	NM_015905		138252327	1	no_errors	ENST00000343526	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138252327	G	C	138252327	3	2	74	1	0	0	0	0	1	0	0	0	16529	933	33	1	1670	1	TRIM24	7	138252327	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1552130	138252327	20886336	464	11159										
PARP12	64761	genome.wustl.edu	37	chr7	139726044	139726044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacagacccgccagtcaaagTtctgctggcagatggcgtcc	11	14	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:139726044T>A	ENST00000263549.3	-	11	2606	c.1733A>T	c.(1732-1734)aAc>aTc	p.N578I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	578	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCAGTCAAAGTTCTGCTGGCA	0.577																																																	0													85	80	82					7																	139726044		2203	4300	6503	SO:0001583	missense	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1733A>T	7.37:g.139726044T>A	ENSP00000263549:p.Asn578Ile		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.N578I	ENST00000263549.3	37	c.1733	CCDS5857.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	16.64|16.64|16.64	3.180785|3.180785|3.180785	0.57800|0.57800|0.57800	.|.|.	.|.|.	ENSG00000059378|ENSG00000059378|ENSG00000059378	ENST00000489809|ENST00000263549|ENST00000484111	T|T|.	0.49432|0.15256|.	0.78|2.44|.	4.86|4.86|4.86	4.86|4.86|4.86	0.63082|0.63082|0.63082	.|Poly(ADP-ribose) polymerase, catalytic domain (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.85124|0.85124|0.85124	0.5625|0.5625|0.5625	M|M|M	0.93462|0.93462|0.93462	3.42|3.42|3.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|D	0.89313|0.89313|0.89313	0.3634|0.3634|0.3634	7|10|5	0.87932|0.87932|.	D|D|.	0|0|.	.|.|.	14.4544|14.4544|14.4544	0.67407|0.67407|0.67407	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|578|.	.|Q9H0J9|.	.|PAR12_HUMAN|.	D|I|S	172|578|50	ENSP00000417606:E172D|ENSP00000263549:N578I|.	ENSP00000417606:E172D|ENSP00000263549:N578I|.	E|N|T	-|-|-	3|2|1	2|0|0	PARP12|PARP12|PARP12	139372513|139372513|139372513	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.885000|0.885000|0.885000	0.51271|0.51271|0.51271	7.967000|7.967000|7.967000	0.87967|0.87967|0.87967	1.834000|1.834000|1.834000	0.53371|0.53371|0.53371	0.383000|0.383000|0.383000	0.25322|0.25322|0.25322	GAA|AAC|ACT	PARP12	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.577	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	T	NM_022750		139726044	-1	no_errors	ENST00000263549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139726044	T	A	139726044	3	1	74	1	0	0	0	0	1	0	0	0	11481	1725	60	5	380	5	PARP12	7	139726044	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1473717	139726044	19412619	465	11160										
MGAM	8972	genome.wustl.edu	37	chr7	141805659	141805659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaacatcagcctacataatTttacttcattgacgtggata	6	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:141805659T>G	ENST00000549489.2	+	48	5637	c.5542T>G	c.(5542-5544)Ttt>Gtt	p.F1848V	MGAM_ENST00000475668.2_Missense_Mutation_p.F2744V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1848					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTACATAATTTTACTTCATT	0.353																																																	0													131	122	125					7																	141805659		1840	4103	5943	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5542T>G	7.37:g.141805659T>G	ENSP00000447378:p.Phe1848Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.F1848V	ENST00000549489.2	37	c.5542	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073601	0.36566	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.88431	-2.38	5.43	4.28	0.50868	.	.	.	.	.	T	0.82148	0.4974	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.65717	-0.6100	9	0.19590	T	0.45	.	6.5466	0.22410	0.0:0.1077:0.0:0.8923	.	1848	O43451	MGA_HUMAN	V	1848;2745	ENSP00000447378:F1848V	ENSP00000373973:F1848V	F	+	1	0	MGAM	141452128	0.083000	0.21467	0.199000	0.23439	0.111000	0.19643	1.981000	0.40628	2.279000	0.76181	0.533000	0.62120	TTT	MGAM	-	NULL		0.353	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	T			141805659	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.083	G	G	141805659	T	G	141805659	3	3	74	1	0	0	0	0	1	0	0	0	9564	1841	64	5	5728	5	MGAM	7	141805659	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	2079615	141805659	17333004	466	11161										
TRPV6	55503	genome.wustl.edu	37	chr7	142573658	142573658	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcatcaggtgctgaaacatCtaagggaaagtgaagatgac	12	6	2	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:142573658C>T	ENST00000359396.3	-	7	1008		c.e7-1		RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCTGAAACATCTAAGGGAAAG	0.542																																																	0													151	119	130					7																	142573658		2203	4300	6503	SO:0001630	splice_region_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.763-1G>A	7.37:g.142573658C>T			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Splice_Site	SNP	-	e7-1	ENST00000359396.3	37	c.763-1	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178582	0.38511	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	.	.	.	4.96	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3555	0.55174	0.0:0.9187:0.0:0.0813	.	.	.	.	.	-1	.	.	.	-	.	.	TRPV6	142283780	1.000000	0.71417	0.990000	0.47175	0.568000	0.35870	5.727000	0.68523	1.112000	0.41740	-0.136000	0.14681	.	TRPV6	-	-		0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	C	NM_014274	Intron	142573658	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	142573658	C	T	142573658	5	4	74	1	0	0	0	0	0	0	1	0	16631	927	32	1	1451	1	TRPV6	7	142573658	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	767999	142573658	16565005	467	11162										
ZYX	7791	genome.wustl.edu	37	chr7	143079495	143079495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttccccgccgcctcctccGgaggaggagggagggcctga	15	16	0	1	rs533497418|rs386718789	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:143079495G>A	ENST00000322764.5	+	3	708	c.363G>A	c.(361-363)ccG>ccA	p.P121P	AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000449423.2_Silent_p.P65P|ZYX_ENST00000477373.1_Intron	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	121	Pro-rich.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCCTCCTCCGGAGGAGGAGG	0.697																																																	0													11	13	13					7																	143079495		2166	4237	6403	SO:0001819	synonymous_variant	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.363G>A	7.37:g.143079495G>A			A4D2G6|Q6I9S4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P121	ENST00000322764.5	37	c.363	CCDS5883.1	7																																																																																			ZYX	-	NULL		0.697	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYX	HGNC	protein_coding	OTTHUMT00000156296.2	G	NM_003461		143079495	1	no_errors	ENST00000322764	ensembl	human	known	70_37	silent	SNP	0.040	A	A	143079495	G	A	143079495	2	1	74	1	0	0	0	0	0	0	0	1	18284	1103	39	2		2	ZYX	7	143079495	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	505837	143079495	16059168	468	11163										
CUL1	8454	genome.wustl.edu	37	chr7	148483659	148483659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagttccaagaacccagagGaggcagaactagaagacaca	10	10	1	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:148483659G>A	ENST00000325222.4	+	12	1594	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	CUL1_ENST00000602748.1_Missense_Mutation_p.E439K|CUL1_ENST00000409469.1_Missense_Mutation_p.E439K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	439					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAACCCAGAGGAGGCAGAACT	0.378																																																	0													112	107	109					7																	148483659		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1315G>A	7.37:g.148483659G>A	ENSP00000326804:p.Glu439Lys		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E439K	ENST00000325222.4	37	c.1315	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.658149	0.96734	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75477	-0.94;-0.94	5.18	5.18	0.71444	Cullin, N-terminal (1);Cullin homology (2);	0.048736	0.85682	D	0.000000	D	0.90686	0.7078	H	0.96175	3.78	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.69307	0.963;0.929	D	0.93664	0.6984	10	0.87932	D	0	-1.6956	18.7108	0.91656	0.0:0.0:1.0:0.0	.	366;439	E7EWR0;Q13616	.;CUL1_HUMAN	K	439;439;397;366	ENSP00000387160:E439K;ENSP00000326804:E439K	ENSP00000326804:E439K	E	+	1	0	CUL1	148114592	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.451000	0.97610	2.413000	0.81919	0.650000	0.86243	GAG	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology		0.378	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148483659	1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148483659	G	A	148483659	3	1	74	1	0	0	0	0	1	0	0	0	4059	1175	41	1	1357	1	CUL1	7	148483659	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5404164	148483659	10655004	469	11164										
ZNF425	155054	genome.wustl.edu	37	chr7	148802620	148802620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttttgaggaccatttaaacGgcaatcctcttcttttgtcc	6	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:148802620G>T	ENST00000378061.2	-	4	475	c.343C>A	c.(343-345)Cgt>Agt	p.R115S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	115					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCATTTAAACGGCAATCCTCT	0.438																																																	0													97	91	93					7																	148802620		2203	4300	6503	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.343C>A	7.37:g.148802620G>T	ENSP00000367300:p.Arg115Ser		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R115S	ENST00000378061.2	37	c.343	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123077	0.20959	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.06687	3.27;5.03	2.75	2.75	0.32379	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39840	-0.9594	9	0.09338	T	0.73	.	10.9216	0.47167	0.0:0.0:1.0:0.0	.	115	Q6IV72	ZN425_HUMAN	S	115;137	ENSP00000367300:R115S;ENSP00000420379:R137S	ENSP00000367300:R115S	R	-	1	0	ZNF425	148433553	0.076000	0.21285	0.016000	0.15963	0.011000	0.07611	1.228000	0.32588	1.364000	0.46038	0.655000	0.94253	CGT	ZNF425	-	NULL		0.438	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	G	XM_088140		148802620	-1	no_errors	ENST00000378061	ensembl	human	known	70_37	missense	SNP	0.013	T	T	148802620	G	T	148802620	3	4	74	1	0	0	0	0	1	0	0	0	17929	1116	39	2	1919	2	ZNF425	7	148802620	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	318961	148802620	10336043	470	11165										
SSPO	23145	genome.wustl.edu	37	chr7	149489010	149489010	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcaccccagaatgggggccGcacctgtgctgcactgcccg	12	17	1	1	rs370624870		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:149489010G>A	ENST00000378016.2	+	0	5351							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AATGGGGGCCGCACCTGTGCT	0.657																																																	0								G		1,4111		0,1,2055	21	25	24		5355	-0.6	0.1	7		24	0,8338		0,0,4169	no	coding-notMod3	SSPO	NM_198455.2		0,1,6224	AA,AG,GG		0.0,0.0243,0.0080			149489010	1,12449	2056	4169	6225			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489010G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149489010	1	no_errors	ENST00000262089	ensembl	human	known	70_37	rna	SNP	0.128	A	A	149489010	G	A	149489010	1	1	74	0	1	0	0	0	0	0	0	0	15219	1087	38	2		2	SSPO	7	149489010	RNA	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	686390	149489010	9649653	471	11166										
ZNF775	285971	genome.wustl.edu	37	chr7	150094608	150094608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgcactgtggccgcggcttcCgccagaagcagcacctgctc	12	17	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150094608C>T	ENST00000329630.5	+	3	1146	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCGGCTTCCGCCAGAAGCA	0.741																																																	0													4	6	5					7																	150094608		1893	3832	5725	SO:0001583	missense	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1039C>T	7.37:g.150094608C>T	ENSP00000330838:p.Arg347Cys		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R347C	ENST00000329630.5	37	c.1039	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682713	0.47991	.	.	ENSG00000196456	ENST00000329630	T	0.18502	2.21	3.78	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29028	0.0721	L	0.46614	1.455	0.37592	D	0.920211	D	0.89917	1.0	D	0.73380	0.98	T	0.06303	-1.0834	8	.	.	.	.	8.0762	0.30718	0.2418:0.7582:0.0:0.0	.	347	Q96BV0	ZN775_HUMAN	C	347	ENSP00000330838:R347C	.	R	+	1	0	ZNF775	149725541	0.000000	0.05858	1.000000	0.80357	0.832000	0.47134	-0.436000	0.06922	0.729000	0.32403	0.313000	0.20887	CGC	ZNF775	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	C	NM_173680		150094608	1	no_errors	ENST00000329630	ensembl	human	known	70_37	missense	SNP	0.958	T	T	150094608	C	T	150094608	3	4	74	1	0	0	0	0	1	0	0	0	18178	652	23	2	1045	2	ZNF775	7	150094608	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	605598	150094608	9044055	472	11167										
ABP1	26	genome.wustl.edu	37	chr7	150558235	150558235	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acgtccagcgctggatccctGaggacagggactgctcgatg	14	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150558235G>C	ENST00000493429.1	+	7	2778	c.2194G>C	c.(2194-2196)Gag>Cag	p.E732Q	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.E732Q|AOC1_ENST00000416793.2_Missense_Mutation_p.E751Q|AOC1_ENST00000467291.1_Missense_Mutation_p.E732Q			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	732					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGGATCCCTGAGGACAGGGA	0.597																																																	0													52	59	57					7																	150558235		2032	4175	6207	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2194G>C	7.37:g.150558235G>C	ENSP00000418614:p.Glu732Gln		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E751Q	ENST00000493429.1	37	c.2251	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234554	0.39498	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03689	3.84;3.84;3.84;3.84	4.84	3.96	0.45880	Copper amine oxidase, C-terminal (1);	0.935437	0.08922	N	0.874237	T	0.02119	0.0066	N	0.08118	0	0.37020	D	0.896131	P;B	0.47841	0.901;0.419	B;B	0.38616	0.277;0.041	T	0.57957	-0.7721	10	0.21014	T	0.42	-27.162	6.9028	0.24293	0.0957:0.1764:0.7278:0.0	.	751;732	C9J690;P19801	.;ABP1_HUMAN	Q	732;732;732;751;608	ENSP00000418614:E732Q;ENSP00000418328:E732Q;ENSP00000354193:E732Q;ENSP00000411613:E751Q	ENSP00000354193:E732Q	E	+	1	0	ABP1	150189168	0.995000	0.38212	0.975000	0.42487	0.898000	0.52572	2.928000	0.48908	1.038000	0.40049	0.305000	0.20034	GAG	ABP1	-	superfamily_Cu_amine_oxidase_C		0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	G	NM_001091		150558235	1	no_errors	ENST00000416793	ensembl	human	known	70_37	missense	SNP	0.996	C	C	150558235	G	C	150558235	3	2	74	1	0	0	0	0	1	0	0	0	98	1291	45	1	2208	1	ABP1	7	150558235	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	463627	150558235	8580428	473	11168										
ACCN3	9311	genome.wustl.edu	37	chr7	150749539	150749539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcagccatcgaacccaagttCcccacctcagcctgggcccc	8	20	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150749539C>T	ENST00000349064.5	+	10	1693	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	ASIC3_ENST00000297512.8_Missense_Mutation_p.P499S|ASIC3_ENST00000357922.4_Intron	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	499					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										AACCCAAGTTCCCCACCTCAG	0.632																																																	0													100	85	90					7																	150749539		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1495C>T	7.37:g.150749539C>T	ENSP00000344838:p.Pro499Ser		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.P499S	ENST00000349064.5	37	c.1495	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008268	0.19199	.	.	ENSG00000213199	ENST00000349064;ENST00000297512;ENST00000490540	T;T;T	0.68025	-0.09;-0.3;-0.21	4.67	0.701	0.18104	.	.	.	.	.	T	0.43188	0.1236	N	0.16567	0.415	0.19945	N	0.999943	B;B	0.17667	0.023;0.011	B;B	0.15870	0.011;0.014	T	0.20605	-1.0270	9	0.20519	T	0.43	-11.4423	4.4981	0.11851	0.0:0.5715:0.1704:0.2581	.	499;499	Q9UHC3-3;Q9UHC3	.;ACCN3_HUMAN	S	499;499;130	ENSP00000344838:P499S;ENSP00000297512:P499S;ENSP00000418361:P130S	ENSP00000297512:P499S	P	+	1	0	ACCN3	150380472	0.001000	0.12720	0.077000	0.20336	0.978000	0.69477	-0.326000	0.07965	-0.048000	0.13401	0.462000	0.41574	CCC	ASIC3	-	NULL		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	C	NM_004769		150749539	1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.155	T	T	150749539	C	T	150749539	3	4	74	1	0	0	0	0	1	0	0	0	130	855	30	1	1533	1	ACCN3	7	150749539	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	191304	150749539	8389124	474	11169										
AGAP3	116988	genome.wustl.edu	37	chr7	150814254	150814254	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgacggggacctatgtccagGaggagtcccctgaaggtgag	16	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150814254G>C	ENST00000397238.2	+	3	463	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Missense_Mutation_p.E155Q|AGAP3_ENST00000479901.1_Missense_Mutation_p.E155Q|AGAP3_ENST00000335367.3_Missense_Mutation_p.E335Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	119	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTATGTCCAGGAGGAGTCCCC	0.672																																																	0													46	50	49					7																	150814254		2097	4261	6358	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.463G>C	7.37:g.150814254G>C	ENSP00000380413:p.Glu155Gln		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E155Q	ENST00000397238.2	37	c.463	CCDS43681.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.974813|4.974813	0.92919|0.92919	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367|ENST00000469901	T;T;T;T|.	0.22134|.	1.97;1.97;1.97;1.97|.	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70334|0.70334	0.3212|0.3212	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.76494|.	0.985;0.945;0.999;0.998|.	P;P;D;P|.	0.73708|.	0.782;0.637;0.981;0.903|.	T|T	0.69803|0.69803	-0.5046|-0.5046	10|5	0.39692|.	T|.	0.17|.	.|.	16.2035|16.2035	0.82105|0.82105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155;335;155;155|.	C9J975;E7ESL9;Q96P47-4;E9PAL8|.	.;.;.;.|.	Q|S	155;155;155;119;335|90	ENSP00000418921:E155Q;ENSP00000418125:E155Q;ENSP00000380413:E155Q;ENSP00000335589:E335Q|.	ENSP00000334157:E119Q|.	E|R	+|+	1|3	0|2	AGAP3|AGAP3	150445187|150445187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.389000|6.389000	0.73199|0.73199	2.303000|2.303000	0.77524|0.77524	0.407000|0.407000	0.27541|0.27541	GAG|AGG	AGAP3	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.672	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351908.3	G	NM_031946		150814254	1	no_errors	ENST00000397238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150814254	G	C	150814254	3	2	74	1	0	0	0	0	1	0	0	0	369	1175	41	1	473	1	AGAP3	7	150814254	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	64715	150814254	8324409	475	11170										
ASB10	136371	genome.wustl.edu	37	chr7	150878059	150878059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctggccagacacggacggcGccatggttgagcagagcccg	15	14	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150878059G>A	ENST00000420175.2	-	3	1095	c.1071C>T	c.(1069-1071)ggC>ggT	p.G357G	ASB10_ENST00000275838.1_Silent_p.G357G|ASB10_ENST00000422024.1_Silent_p.G402G|ASB10_ENST00000434669.1_Silent_p.G402G|ASB10_ENST00000377867.3_Silent_p.G342G			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	357					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGGACGGCGCCATGGTTGA	0.697																																																	0													15	15	15					7																	150878059		2194	4265	6459	SO:0001819	synonymous_variant	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1071C>T	7.37:g.150878059G>A			A0AVH0|Q6ZUL6	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.G402	ENST00000420175.2	37	c.1206	CCDS47750.2	7																																																																																			ASB10	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.697	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	G	NM_080871		150878059	-1	no_errors	ENST00000422024	ensembl	human	known	70_37	silent	SNP	0.011	A	A	150878059	G	A	150878059	2	1	74	1	0	0	0	0	0	0	0	1	1015	1074	38	2		2	ASB10	7	150878059	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	63805	150878059	8260604	476	11171										
ASB10	136371	genome.wustl.edu	37	chr7	150883515	150883515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccggcagagatgcagggggCgtttcccatcctggtcagcg	15	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150883515C>T	ENST00000420175.2	-	2	572	c.548G>A	c.(547-549)cGc>cAc	p.R183H	ASB10_ENST00000275838.1_Missense_Mutation_p.R183H|ASB10_ENST00000422024.1_Missense_Mutation_p.R228H|ASB10_ENST00000434669.1_Missense_Mutation_p.R228H|ASB10_ENST00000377867.3_Missense_Mutation_p.R168H			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	183			R -> C (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCAGGGGGCGTTTCCCATC	0.642																																																	0													16	16	16					7																	150883515		2198	4288	6486	SO:0001583	missense	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.548G>A	7.37:g.150883515C>T	ENSP00000391137:p.Arg183His		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.R228H	ENST00000420175.2	37	c.683	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657227	0.29425	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.96	1.91	0.25777	Ankyrin repeat-containing domain (4);	0.342530	0.29987	N	0.010689	T	0.39462	0.1079	N	0.16266	0.395	0.24795	N	0.992736	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.12156	0.006;0.007;0.005	T	0.28332	-1.0047	10	0.66056	D	0.02	-6.1227	3.8834	0.09088	0.1391:0.5858:0.1243:0.1509	.	168;183;228	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	H	183;168;228;228;183	ENSP00000275838:R183H;ENSP00000367098:R168H;ENSP00000401369:R228H;ENSP00000398247:R228H;ENSP00000391137:R183H	ENSP00000275838:R183H	R	-	2	0	ASB10	150514448	0.012000	0.17670	0.876000	0.34364	0.916000	0.54674	0.292000	0.19011	0.585000	0.29608	-0.216000	0.12614	CGC	ASB10	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	C	NM_080871		150883515	-1	no_errors	ENST00000422024	ensembl	human	known	70_37	missense	SNP	0.633	T	T	150883515	C	T	150883515	3	4	74	1	0	0	0	0	1	0	0	0	1015	768	27	2	871	2	ASB10	7	150883515	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5456	150883515	8255148	477	11172										
ABCF2	10061	genome.wustl.edu	37	chr7	150920871	150920871	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagatccgcgaggccctcatCtctgccttgtcggcatccag	10	15	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150920871C>G	ENST00000287844.2	-	5	724	c.615G>C	c.(613-615)gaG>gaC	p.E205D	ABCF2_ENST00000222388.2_Missense_Mutation_p.E205D|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	205	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCCCTCATCTCTGCCTTGT	0.602																																																	0													44	37	39					7																	150920871		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.615G>C	7.37:g.150920871C>G	ENSP00000287844:p.Glu205Asp		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E205D	ENST00000287844.2	37	c.615	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235899	0.79800	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.7	3.91	0.45181	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.160128	0.56097	D	0.000036	D	0.95211	0.8447	M	0.77486	2.375	0.54753	D	0.999985	D;D	0.53885	0.963;0.963	P;P	0.59825	0.864;0.864	D	0.94316	0.7549	10	0.72032	D	0.01	-6.6734	9.2547	0.37575	0.0:0.7567:0.0:0.2433	.	205;205	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	D	205	ENSP00000222388:E205D;ENSP00000287844:E205D;ENSP00000419720:E205D;ENSP00000395785:E205D	ENSP00000222388:E205D	E	-	3	2	ABCF2	150551804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.014000	0.29950	0.770000	0.33336	-0.218000	0.12543	GAG	ABCF2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	C	NM_005692		150920871	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150920871	C	G	150920871	3	3	74	1	0	0	0	0	1	0	0	0	66	912	32	1	1341	1	ABCF2	7	150920871	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	37356	150920871	8217792	478	11173										
MLL3	58508	genome.wustl.edu	37	chr7	152009013	152009013	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttacacaagatactatattCtgctgaggagatcgttctct	7	9	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:152009013C>T	ENST00000262189.6	-	5	827	c.609G>A	c.(607-609)caG>caA	p.Q203Q	KMT2C_ENST00000355193.2_Silent_p.Q203Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	203					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATACTATATTCTGCTGAGGAG	0.373																																																	0													105	101	103					7																	152009013		2203	4300	6503	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.609G>A	7.37:g.152009013C>T			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q203	ENST00000262189.6	37	c.609	CCDS5931.1	7																																																																																			MLL3	-	NULL		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			152009013	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	silent	SNP	0.981	T	T	152009013	C	T	152009013	2	4	74	1	0	0	0	0	0	0	0	1	9645	912	32	1		1	MLL3	7	152009013	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1088142	152009013	7129650	479	11174										
DPP6	1804	genome.wustl.edu	37	chr7	154429554	154429554	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatcaacactcgtatactggAtattacgtcctgagcaaaat	6	9	1	1	rs375064901		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:154429554A>C	ENST00000377770.3	+	6	792	c.651A>C	c.(649-651)ggA>ggC	p.G217G	DPP6_ENST00000404039.1_Silent_p.G153G|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Silent_p.G155G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	217					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGTATACTGGATATTACGTCC	0.373																																					NSCLC(125;1384 1783 2490 7422 34254)												0													156	128	137					7																	154429554		1845	4094	5939	SO:0001819	synonymous_variant	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.651A>C	7.37:g.154429554A>C				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G217	ENST00000377770.3	37	c.651		7																																																																																			DPP6	-	pfam_Peptidase_S9B		0.373	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	A	NM_130797		154429554	1	no_errors	ENST00000377770	ensembl	human	known	70_37	silent	SNP	1.000	C	C	154429554	A	C	154429554	2	2	74	1	0	0	0	0	0	0	0	1	4740	320	12	5		5	DPP6	7	154429554	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2420541	154429554	4709109	480	11175										
DPP6	1804	genome.wustl.edu	37	chr7	154561192	154561192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcacgagactcgcctacgccGccatcaatgattcccgtgtc	9	16	1	2	rs370802575		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:154561192G>A	ENST00000377770.3	+	9	1090	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	DPP6_ENST00000404039.1_Missense_Mutation_p.A253T|DPP6_ENST00000427557.1_Missense_Mutation_p.A210T|DPP6_ENST00000332007.3_Missense_Mutation_p.A255T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	317					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A253T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGCCTACGCCGCCATCAATGA	0.527																																					NSCLC(125;1384 1783 2490 7422 34254)												1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						A	THR/ALA,THR/ALA,THR/ALA	1,4017		0,1,2008	71	74	73		322,322,403	4.1	1	7		73	0,8336		0,0,4168	no	missense,missense,missense	DPP6	NM_130797.2,NM_001936.3,NM_001039350.1	58,58,58	0,1,6176	AA,AG,GG		0.0,0.0249,0.0081	benign,benign,benign	108/657,108/657,135/684	154561192	1,12353	2009	4168	6177	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.949G>A	7.37:g.154561192G>A	ENSP00000367001:p.Ala317Thr			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.A317T	ENST00000377770.3	37	c.949		7	.	.	.	.	.	.	.	.	.	.	A	6.132	0.392632	0.11638	2.49E-4	0.0	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.28	4.13	0.48395	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	N	0.000000	T	0.05640	0.0148	N	0.00122	-2.065	0.22050	N	0.999393	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.40251	-0.9573	10	0.02654	T	1	-26.5923	9.6749	0.40034	0.859:0.0:0.141:0.0	.	210;255;317;253	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	253;317;255;210	ENSP00000385578:A253T;ENSP00000367001:A317T;ENSP00000328226:A255T;ENSP00000397303:A210T	ENSP00000328226:A255T	A	+	1	0	DPP6	154192125	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.986000	0.70563	0.340000	0.23745	-0.254000	0.11334	GCC	DPP6	-	pfam_Peptidase_S9B		0.527	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	G	NM_130797		154561192	1	no_errors	ENST00000377770	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154561192	G	A	154561192	3	1	74	1	0	0	0	0	1	0	0	0	4740	1087	38	2	1099	2	DPP6	7	154561192	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	131638	154561192	4577471	481	11176										
DNAJB6	10049	genome.wustl.edu	37	chr7	157208765	157208765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagagagaggagtcgaagaaGaagaagtcgaccaaaggcaa	14	6	0	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:157208765G>C	ENST00000262177.4	+	10	1159	c.954G>C	c.(952-954)aaG>aaC	p.K318N	DNAJB6_ENST00000452797.2_Missense_Mutation_p.K269N|DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000443280.1_Missense_Mutation_p.K203N	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	318					intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		agtcgaagaagaagaagTCGA	0.557																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0													145	116	126					7																	157208765		2203	4300	6503	SO:0001583	missense	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.954G>C	7.37:g.157208765G>C	ENSP00000262177:p.Lys318Asn		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K318N	ENST00000262177.4	37	c.954	CCDS5946.1	7	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112280	0.37242	.	.	ENSG00000105993	ENST00000262177;ENST00000452797;ENST00000443280	T;T;T	0.68765	0.16;-0.35;-0.32	4.42	3.53	0.40419	.	28.536800	0.00166	N	0.000000	T	0.75606	0.3872	L	0.38175	1.15	0.29615	N	0.846644	P;D;P;P	0.71674	0.906;0.998;0.948;0.948	P;D;P;P	0.63703	0.521;0.917;0.57;0.666	T	0.59075	-0.7522	10	0.66056	D	0.02	.	9.978	0.41795	0.0983:0.0:0.9017:0.0	.	203;269;318;318	E9PH18;B4DN73;A8KAG0;O75190	.;.;.;DNJB6_HUMAN	N	318;269;203	ENSP00000262177:K318N;ENSP00000402270:K269N;ENSP00000396267:K203N	ENSP00000262177:K318N	K	+	3	2	DNAJB6	156901526	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.151000	0.64875	0.975000	0.38392	0.563000	0.77884	AAG	DNAJB6	-	NULL		0.557	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	G			157208765	1	no_errors	ENST00000262177	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157208765	G	C	157208765	3	2	74	1	0	0	0	0	1	0	0	0	4634	933	33	1	1023	1	DNAJB6	7	157208765	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2647573	157208765	1929898	482	11177										
ESYT2	57488	genome.wustl.edu	37	chr7	158534254	158534254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgccgcagctcctgggtggCgatgggcagcgagatgtccg	17	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:158534254C>T	ENST00000251527.5	-	17	2274	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T	ESYT2_ENST00000435514.2_Missense_Mutation_p.A172T	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	765	Poly-Ser.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.A737S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCCTGGGTGGCGATGGGCAGC	0.637																																																	1	Substitution - Missense(1)	lung(1)											53	51	52					7																	158534254		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2209G>A	7.37:g.158534254C>T	ENSP00000251527:p.Ala737Thr		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.A737T	ENST00000251527.5	37	c.2209	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.544144	0.96488	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650	T;T;T	0.22743	1.94;1.96;2.35	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.70487	0.969;0.769	T	0.30238	-0.9985	10	0.46703	T	0.11	-11.5094	17.885	0.88851	0.0:1.0:0.0:0.0	.	737;765	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	T	737;786;728;172;172	ENSP00000251527:A737T;ENSP00000275418:A728T;ENSP00000411488:A172T	ENSP00000251527:A737T	A	-	1	0	ESYT2	158227015	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	4.467000	0.60155	2.541000	0.85698	0.655000	0.94253	GCC	ESYT2	-	NULL		0.637	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	C	NM_020728		158534254	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158534254	C	T	158534254	3	4	74	1	0	0	0	0	1	0	0	0	5277	768	27	2	496	2	ESYT2	7	158534254	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1325489	158534254	604409	483	11178										
CSMD1	64478	genome.wustl.edu	37	chr8	2855580	2855580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actggccgttgctccgacacTgggctcgagacacgccctgc	12	16	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:2855580T>A	ENST00000520002.1	-	55	8888	c.8333A>T	c.(8332-8334)cAg>cTg	p.Q2778L	CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2778L|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2720L|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2719L|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2777L|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2720L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2778	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTCCGACACTGGGCTCGAGA	0.562																																																	0													78	78	78					8																	2855580		2044	4201	6245	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8333A>T	8.37:g.2855580T>A	ENSP00000430733:p.Gln2778Leu		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q2778L	ENST00000520002.1	37	c.8333		8	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894792	0.72639	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.07	6.07	0.98685	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.74726	0.3754	L	0.58354	1.805	0.80722	D	1	D;P;D	0.69078	0.969;0.815;0.997	D;P;D	0.70227	0.968;0.619;0.96	T	0.70525	-0.4848	10	0.23302	T	0.38	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	2778;2778;2719	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2720;2778;2639;2777;2719	ENSP00000383047:Q2720L;ENSP00000430733:Q2778L;ENSP00000441462:Q2777L;ENSP00000446243:Q2719L	ENSP00000320445:Q2639L	Q	-	2	0	CSMD1	2842987	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.064000	0.71169	2.326000	0.78906	0.533000	0.62120	CAG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	T	NM_033225		2855580	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2855580	T	A	2855580	3	1	74	1	0	0	0	0	1	0	0	0	3949	1580	55	5	2432	5	CSMD1	8	2855580	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09		2855580	143508442	484	11179										
DEFB1	1672	genome.wustl.edu	37	chr8	6728244	6728244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccctctgtaacaggtgccttGaattttggtaaagatcgggc	11	9	1	2	rs148577927		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:6728244G>C	ENST00000297439.3	-	2	330	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	56					acute inflammatory response (GO:0002526)|antibacterial humoral response (GO:0019731)|chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|response to bacterium (GO:0009617)|response to testosterone (GO:0033574)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		CAGGTGCCTTGAATTTTGGTA	0.458																																					Pancreas(35;916 948 9612 33610 36642)												0													117	103	108					8																	6728244		2203	4300	6503	SO:0001583	missense	1672			X92744	CCDS5959.1	8p23.1	2012-03-27			ENSG00000164825	ENSG00000164825		"Defensins, beta"	2766	protein-coding gene	gene with protein product		602056				7628632	Standard	NM_005218		Approved	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822	uc003wqs.2	P60022	OTTHUMG00000090367	ENST00000297439.3:c.166C>G	8.37:g.6728244G>C	ENSP00000297439:p.Gln56Glu		Q09753	Missense_Mutation	SNP	pfam_Defensin_beta-typ	p.Q56E	ENST00000297439.3	37	c.166	CCDS5959.1	8	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362974	0.24684	.	.	ENSG00000164825	ENST00000297439	T	0.21734	1.99	4.24	-4.61	0.03380	.	3.810970	0.00757	N	0.001108	T	0.09642	0.0237	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	9	0.24483	T	0.36	0.8962	0.2068	0.00151	0.2548:0.2015:0.2712:0.2725	.	56	P60022	DEFB1_HUMAN	E	56	ENSP00000297439:Q56E	ENSP00000297439:Q56E	Q	-	1	0	DEFB1	6715654	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.205000	0.09411	-0.757000	0.04697	-0.344000	0.07964	CAA	DEFB1	-	pfam_Defensin_beta-typ		0.458	DEFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB1	HGNC	protein_coding	OTTHUMT00000251292.1	G	NM_005218		6728244	-1	no_errors	ENST00000297439	ensembl	human	known	70_37	missense	SNP	0.000	C	C	6728244	G	C	6728244	3	2	74	1	0	0	0	0	1	0	0	0	4399	1299	45	1	44	1	DEFB1	8	6728244	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3872664	6728244	139635778	485	11180										
LONRF1	91694	genome.wustl.edu	37	chr8	12586472	12586472	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctttcattcctctttttaAaaccctaaaccgctttcctc	1	14	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:12586472A>T	ENST00000398246.3	-	10	2017	c.1948T>A	c.(1948-1950)Tta>Ata	p.L650I	LONRF1_ENST00000533751.1_Missense_Mutation_p.L293I|MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Missense_Mutation_p.L76I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	650	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CCTCTTTTTAAAACCCTAAAC	0.373																																																	0													181	168	172					8																	12586472		1849	4090	5939	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1948T>A	8.37:g.12586472A>T	ENSP00000381298:p.Leu650Ile		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L650I	ENST00000398246.3	37	c.1948	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231685	0.58777	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.04	-0.226	0.13106	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.071926	0.56097	D	0.000023	T	0.52403	0.1732	L	0.60845	1.875	0.51012	D	0.999902	D;D	0.65815	0.985;0.995	P;D	0.67382	0.873;0.951	T	0.47787	-0.9090	10	0.42905	T	0.14	-9.7898	10.0683	0.42317	0.6085:0.0:0.3915:0.0	.	639;650	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	I	650;76;293;253	ENSP00000381298:L650I;ENSP00000436770:L76I;ENSP00000432130:L293I;ENSP00000433327:L253I	ENSP00000381298:L650I	L	-	1	2	LONRF1	12630843	0.219000	0.23619	0.996000	0.52242	0.995000	0.86356	0.315000	0.19451	0.063000	0.16370	0.455000	0.32223	TTA	LONRF1	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.373	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	A	NM_152271		12586472	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	0.573	T	T	12586472	A	T	12586472	3	4	74	1	0	0	0	0	1	0	0	0	8917	11	1	5	385	5	LONRF1	8	12586472	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	5858228	12586472	133777550	486	11181										
STC1	6781	genome.wustl.edu	37	chr8	23702481	23702481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttaggcccaattttctccatCaggctgtctctgattgtgct	8	11	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:23702481C>T	ENST00000290271.2	-	4	829	c.546G>A	c.(544-546)ctG>ctA	p.L182L	STC1_ENST00000524323.1_Silent_p.L113L	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	182					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTTTCTCCATCAGGCTGTCTC	0.498																																																	0													181	161	168					8																	23702481		2203	4300	6503	SO:0001819	synonymous_variant	6781				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.546G>A	8.37:g.23702481C>T			B4DN22|Q71UE5	Silent	SNP	pfam_Stanniocalcin	p.L182	ENST00000290271.2	37	c.546	CCDS6043.1	8																																																																																			STC1	-	pfam_Stanniocalcin		0.498	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC1	HGNC	protein_coding	OTTHUMT00000215143.1	C			23702481	-1	no_errors	ENST00000290271	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23702481	C	T	23702481	2	4	74	1	0	0	0	0	0	0	0	1	15305	813	29	1		1	STC1	8	23702481	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11116009	23702481	122661541	487	11182										
TRIM35	23087	genome.wustl.edu	37	chr8	27145235	27145235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccgcgtcatagaaagacagCtcgccctcctcacactccag	7	17	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:27145235C>T	ENST00000305364.4	-	6	1397	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AGAAAGACAGCTCGCCCTCCT	0.682																																																	0													52	48	49					8																	27145235		2202	4297	6499	SO:0001819	synonymous_variant	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1314G>A	8.37:g.27145235C>T			Q86XQ0|Q8WVA4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E438	ENST00000305364.4	37	c.1314	CCDS6056.2	8																																																																																			TRIM35	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.682	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	C	NM_171982		27145235	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27145235	C	T	27145235	2	4	74	1	0	0	0	0	0	0	0	1	16540	796	28	4		4	TRIM35	8	27145235	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3442754	27145235	119218787	488	11183										
KIF13B	23303	genome.wustl.edu	37	chr8	28988140	28988140	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccattctcattctgttccaaGatttgaacccagaattccaa	4	12	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:28988140G>C	ENST00000524189.1	-	24	3023	c.2985C>G	c.(2983-2985)atC>atG	p.I995M	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	995					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCTGTTCCAAGATTTGAACCC	0.418																																																	0													133	124	127					8																	28988140		1841	4096	5937	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2985C>G	8.37:g.28988140G>C	ENSP00000427900:p.Ile995Met		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I995M	ENST00000524189.1	37	c.2985	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820772	0.50633	.	.	ENSG00000197892	ENST00000524189	D	0.85556	-2.0	4.51	0.147	0.14838	.	0.056297	0.64402	D	0.000002	D	0.89273	0.6668	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	D	0.85282	0.1062	10	0.87932	D	0	.	3.1573	0.06509	0.318:0.0:0.3667:0.3153	.	995	F8VPJ2	.	M	995	ENSP00000427900:I995M	ENSP00000427900:I995M	I	-	3	3	KIF13B	29044059	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	0.316000	0.19469	0.122000	0.18314	-0.188000	0.12872	ATC	KIF13B	-	NULL		0.418	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	G			28988140	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	0.994	C	C	28988140	G	C	28988140	3	2	74	1	0	0	0	0	1	0	0	0	8295	932	33	1	2563	1	KIF13B	8	28988140	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1842905	28988140	117375882	489	11184										
MYST3	7994	genome.wustl.edu	37	chr8	41790749	41790749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgctggttgtggttgtggCggcggcggctgtggctgctg	22	7	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:41790749C>T	ENST00000396930.3	-	18	5532	c.4989G>A	c.(4987-4989)ccG>ccA	p.P1663P	KAT6A_ENST00000265713.2_Silent_p.P1663P|KAT6A_ENST00000406337.1_Silent_p.P1663P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1663	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										gtggttgtggcggcggcggct	0.697																																																	0													15	14	14					8																	41790749		2179	4260	6439	SO:0001819	synonymous_variant	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4989G>A	8.37:g.41790749C>T			Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P1663	ENST00000396930.3	37	c.4989	CCDS6124.1	8																																																																																			KAT6A	-	NULL		0.697	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	C	NM_006766		41790749	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	silent	SNP	0.259	T	T	41790749	C	T	41790749	2	4	74	1	0	0	0	0	0	0	0	1	10127	755	27	2		2	MYST3	8	41790749	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	12802609	41790749	104573273	490	11185										
PRKDC	5591	genome.wustl.edu	37	chr8	48792096	48792096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attgaaccgcggagttcctgGaggaaattccctggactgca	12	10	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:48792096G>A	ENST00000314191.2	-	40	5244	c.5188C>T	c.(5188-5190)Cca>Tca	p.P1730S	PRKDC_ENST00000338368.3_Missense_Mutation_p.P1730S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1731					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGAGTTCCTGGAGGAAATTCC	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													40	41	41					8																	48792096		1890	4119	6009	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5188C>T	8.37:g.48792096G>A	ENSP00000313420:p.Pro1730Ser		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P1730S	ENST00000314191.2	37	c.5188		8	.	.	.	.	.	.	.	.	.	.	G	8.654	0.899020	0.17686	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.69040	-0.37;-0.37	5.87	2.93	0.34026	Armadillo-type fold (1);	0.390143	0.26535	N	0.023839	T	0.58566	0.2131	L	0.56769	1.78	0.24569	N	0.993938	B;B	0.26002	0.139;0.009	B;B	0.24701	0.055;0.016	T	0.51741	-0.8667	10	0.40728	T	0.16	.	8.3603	0.32355	0.0:0.218:0.4575:0.3245	.	1730;1731	E7EUY0;P78527	.;PRKDC_HUMAN	S	1730	ENSP00000313420:P1730S;ENSP00000345182:P1730S	ENSP00000313420:P1730S	P	-	1	0	PRKDC	48954649	0.985000	0.35326	0.695000	0.30226	0.087000	0.18053	1.766000	0.38491	0.802000	0.34089	-0.234000	0.12200	CCA	PRKDC	-	superfamily_ARM-type_fold		0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48792096	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.871	A	A	48792096	G	A	48792096	3	1	74	1	0	0	0	0	1	0	0	0	12548	1174	41	1	7387	1	PRKDC	8	48792096	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7001347	48792096	97571926	491	11186										
RP1	6101	genome.wustl.edu	37	chr8	55534096	55534096	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctacagcacctgacagaggtCatgcagcgccctgtggtcaa	11	13	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:55534096C>T	ENST00000220676.1	+	2	718	c.570C>T	c.(568-570)gtC>gtT	p.V190V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	190	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACAGAGGTCATGCAGCGCC	0.582																																					Colon(91;1014 1389 7634 14542 40420)												0													121	124	123					8																	55534096		2203	4300	6503	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.570C>T	8.37:g.55534096C>T				Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V190	ENST00000220676.1	37	c.570	CCDS6160.1	8																																																																																			RP1	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.582	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	C	NM_006269		55534096	1	no_errors	ENST00000220676	ensembl	human	known	70_37	silent	SNP	0.368	T	T	55534096	C	T	55534096	2	4	74	1	0	0	0	0	0	0	0	1	13562	813	29	1		1	RP1	8	55534096	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6742000	55534096	90829926	492	11187										
CHD7	55636	genome.wustl.edu	37	chr8	61750671	61750671	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaaagaaatagaggatcttCtacgaaaaggggcctatggt	12	5	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:61750671C>G	ENST00000423902.2	+	19	4869	c.4390C>G	c.(4390-4392)Cta>Gta	p.L1464V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1464	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAGGATCTTCTACGAAAAGG	0.373																																																	0													43	39	40					8																	61750671		1836	4072	5908	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4390C>G	8.37:g.61750671C>G	ENSP00000392028:p.Leu1464Val		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1464V	ENST00000423902.2	37	c.4390	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341852	0.81911	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.78924	-1.22	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000006	D	0.88217	0.6377	M	0.82323	2.585	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	D	0.89417	0.3707	10	0.87932	D	0	-11.0737	13.664	0.62384	0.0:0.9258:0.0:0.0742	.	1464	Q9P2D1	CHD7_HUMAN	V	1464	ENSP00000392028:L1464V	ENSP00000307304:L1464V	L	+	1	2	CHD7	61913225	1.000000	0.71417	0.906000	0.35671	0.999000	0.98932	3.320000	0.51991	2.660000	0.90430	0.655000	0.94253	CTA	CHD7	-	pfscan_Helicase_C		0.373	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61750671	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61750671	C	G	61750671	3	3	74	1	0	0	0	0	1	0	0	0	3335	912	32	1	4460	1	CHD7	8	61750671	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6216575	61750671	84613351	493	11188										
CYP7B1	9420	genome.wustl.edu	37	chr8	65527718	65527718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcttctgggtgccgcagaaGataatacattgcccagaaca	10	10	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:65527718G>A	ENST00000310193.3	-	4	1095	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	308					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCGCAGAAGATAATACATT	0.463																																																	0													93	86	88					8																	65527718		2203	4300	6503	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.922C>T	8.37:g.65527718G>A	ENSP00000310721:p.Leu308Phe		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.L308F	ENST00000310193.3	37	c.922	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057179	0.55325	.	.	ENSG00000172817	ENST00000310193	D	0.94330	-3.4	5.93	1.88	0.25563	.	0.233701	0.45126	D	0.000388	D	0.95850	0.8649	M	0.92784	3.345	0.37850	D	0.929357	P	0.49358	0.923	P	0.52672	0.706	D	0.95484	0.8563	10	0.66056	D	0.02	-7.8658	11.349	0.49577	0.0:0.2271:0.5377:0.2353	.	308	O75881	CP7B1_HUMAN	F	308	ENSP00000310721:L308F	ENSP00000310721:L308F	L	-	1	0	CYP7B1	65690272	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.287000	0.43505	0.055000	0.16094	0.655000	0.94253	CTT	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.463	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	G			65527718	-1	no_errors	ENST00000310193	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65527718	G	A	65527718	3	1	74	1	0	0	0	0	1	0	0	0	4202	942	33	1	610	1	CYP7B1	8	65527718	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3777047	65527718	80836304	494	11189										
ARFGEF1	10565	genome.wustl.edu	37	chr8	68130069	68130069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtgcagttgcaagttttatCccagatttctagggtaaatt	9	6	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:68130069C>T	ENST00000262215.3	-	32	4950	c.4561G>A	c.(4561-4563)Gat>Aat	p.D1521N	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D975N|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.D359N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1521					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAAGTTTTATCCCAGATTTCT	0.338																																																	0													102	101	102					8																	68130069		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4561G>A	8.37:g.68130069C>T	ENSP00000262215:p.Asp1521Asn		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.D1521N	ENST00000262215.3	37	c.4561	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001362	0.74818	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.52526	0.66;0.66;0.66	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.53561	1.675	0.80722	D	1	B;B;B	0.17038	0.02;0.012;0.005	B;B;B	0.16722	0.016;0.009;0.005	T	0.34453	-0.9828	10	0.35671	T	0.21	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	1521;999;975	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	N	975;1521;359	ENSP00000428429:D975N;ENSP00000262215:D1521N;ENSP00000430891:D359N	ENSP00000262215:D1521N	D	-	1	0	ARFGEF1	68292623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.724000	0.93272	0.655000	0.94253	GAT	ARFGEF1	-	superfamily_ARM-type_fold		0.338	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	C	NM_006421		68130069	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68130069	C	T	68130069	3	4	74	1	0	0	0	0	1	0	0	0	852	855	30	1	1020	1	ARFGEF1	8	68130069	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2602351	68130069	78233953	495	11190										
CRISPLD1	83690	genome.wustl.edu	37	chr8	75925233	75925233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtccattcaggtgttctggCcctgtatgtacacattatac	8	10	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:75925233C>T	ENST00000262207.4	+	4	954	c.486C>T	c.(484-486)ggC>ggT	p.G162G	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.A15V|CRISPLD1_ENST00000523524.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	162	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GGTGTTCTGGCCCTGTATGTA	0.393																																																	0													103	88	93					8																	75925233		2203	4300	6503	SO:0001819	synonymous_variant	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.486C>T	8.37:g.75925233C>T			B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.A15V	ENST00000262207.4	37	c.44	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123463	0.20959	.	.	ENSG00000121005	ENST00000517786	T	0.81247	-1.47	5.37	-6.85	0.01681	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.51188	-0.8737	8	0.87932	D	0	.	0.7671	0.01017	0.2935:0.2383:0.101:0.3672	.	15	B7Z929	.	V	15	ENSP00000429746:A15V	ENSP00000429746:A15V	A	+	2	0	CRISPLD1	76087788	0.452000	0.25713	0.910000	0.35882	0.043000	0.13939	-0.513000	0.06305	-1.088000	0.03077	-2.191000	0.00312	GCC	CRISPLD1	-	NULL		0.393	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	C	NM_031461		75925233	1	no_errors	ENST00000517786	ensembl	human	putative	70_37	missense	SNP	0.729	T	T	75925233	C	T	75925233	2	4	74	1	0	0	0	0	0	0	0	1	3887	726	26	4		4	CRISPLD1	8	75925233	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7795164	75925233	70438789	496	11191										
NECAB1	64168	genome.wustl.edu	37	chr8	91962037	91962037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttttattttccatttcagtaTttctatacagaagctttcaa	3	7	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:91962037T>G	ENST00000417640.2	+	11	1200	c.863T>G	c.(862-864)aTt>aGt	p.I288S	NECAB1_ENST00000522820.1_Missense_Mutation_p.I37S|NECAB1_ENST00000521366.1_Missense_Mutation_p.I37S	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	288	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CATTTCAGTATTTCTATACAG	0.323																																																	0													113	99	103					8																	91962037		1801	4079	5880	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.863T>G	8.37:g.91962037T>G	ENSP00000387380:p.Ile288Ser		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I288S	ENST00000417640.2	37	c.863	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282760	0.80692	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.29917	1.55;1.55;1.55	5.72	5.72	0.89469	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.183697	0.48767	D	0.000161	T	0.35508	0.0934	L	0.42245	1.32	0.47949	D	0.999553	P	0.36354	0.549	B	0.42798	0.398	T	0.18116	-1.0347	10	0.87932	D	0	-5.3516	14.9892	0.71374	0.0:0.0:0.0:1.0	.	288	Q8N987	NECA1_HUMAN	S	288;37;37	ENSP00000387380:I288S;ENSP00000428953:I37S;ENSP00000428632:I37S	ENSP00000387380:I288S	I	+	2	0	NECAB1	92031213	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.500000	0.73687	2.195000	0.70347	0.533000	0.62120	ATT	NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel		0.323	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	T	NM_022351		91962037	1	no_errors	ENST00000417640	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91962037	T	G	91962037	3	3	74	1	0	0	0	0	1	0	0	0	10328	1493	52	5	905	5	NECAB1	8	91962037	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	16036804	91962037	54401985	497	11192										
KIAA1429	25962	genome.wustl.edu	37	chr8	95508692	95508692	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctacttccatgagaccattaTcatctccacagcatccctgt	4	15	2	1	rs368083067		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:95508692T>A	ENST00000297591.5	-	18	4322	c.4247A>T	c.(4246-4248)gAt>gTt	p.D1416V	KIAA1429_ENST00000437199.1_Missense_Mutation_p.I1372L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1416					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAGACCATTATCATCTCCACA	0.373																																																	0													169	145	153					8																	95508692		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4247A>T	8.37:g.95508692T>A	ENSP00000297591:p.Asp1416Val		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1416V	ENST00000297591.5	37	c.4247	CCDS34923.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	4.002165|4.002165	0.74932|0.74932	.|.	.|.	ENSG00000164944|ENSG00000164944	ENST00000297591|ENST00000437199	T|T	0.48201|0.40756	0.82|1.02	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.345630|.	0.32884|.	N|.	0.005528|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.36672|0.36672	1.1|1.1	0.25632|0.25632	N|N	0.986296|0.986296	D|.	0.55385|.	0.971|.	P|.	0.52343|.	0.696|.	T|T	0.46693|0.46693	-0.9173|-0.9173	10|7	0.72032|0.87932	D|D	0.01|0	-7.0075|-7.0075	15.6419|15.6419	0.77012|0.77012	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1416|.	Q69YN4|.	VIR_HUMAN|.	V|L	1416|1372	ENSP00000297591:D1416V|ENSP00000395600:I1372L	ENSP00000297591:D1416V|ENSP00000395600:I1372L	D|I	-|-	2|1	0|0	KIAA1429|KIAA1429	95577868|95577868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.505000|5.505000	0.66981|0.66981	2.104000|2.104000	0.64026|0.64026	0.528000|0.528000	0.53228|0.53228	GAT|ATA	KIAA1429	-	NULL		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	T	NM_015496		95508692	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95508692	T	A	95508692	3	1	74	1	0	0	0	0	1	0	0	0	8251	1435	50	5	1219	5	KIAA1429	8	95508692	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3546655	95508692	50855330	498	11193										
INTS8	55656	genome.wustl.edu	37	chr8	95869137	95869137	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacacgaagctgggacagggCaggcaggagagagaccgcca	16	11	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:95869137C>A	ENST00000523731.1	+	15	2018	c.1885C>A	c.(1885-1887)Cag>Aag	p.Q629K	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.Q629K	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	629					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TGGGACAGGGCAGGCAGGAGA	0.468																																																	0													115	106	109					8																	95869137		2203	4300	6503	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1885C>A	8.37:g.95869137C>A	ENSP00000430338:p.Gln629Lys		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.Q629K	ENST00000523731.1	37	c.1885	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172580	0.38315	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.51	5.51	0.81932	.	0.459771	0.26489	N	0.024093	T	0.33876	0.0878	N	0.08118	0	0.44492	D	0.997438	B;B	0.18310	0.0;0.027	B;B	0.18561	0.0;0.022	T	0.24154	-1.0168	9	0.05436	T	0.98	-0.5885	14.6869	0.69055	0.0:0.8448:0.1552:0.0	.	629;629	Q75QN2;Q75QN2-2	INT8_HUMAN;.	K	629	.	ENSP00000343274:Q629K	Q	+	1	0	INTS8	95938313	0.733000	0.28132	0.983000	0.44433	0.815000	0.46073	2.349000	0.44054	2.756000	0.94617	0.655000	0.94253	CAG	INTS8	-	NULL		0.468	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	C	NM_017864		95869137	1	no_errors	ENST00000523731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95869137	C	A	95869137	3	1	74	1	0	0	0	0	1	0	0	0	7804	711	25	4	1943	4	INTS8	8	95869137	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	360445	95869137	50494885	499	11194										
TSPYL5	85453	genome.wustl.edu	37	chr8	98289174	98289174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tattttggaaatacgggttgCgatcgaagtagaacttgatt	11	4	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:98289174C>T	ENST00000322128.3	-	1	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	300					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ATACGGGTTGCGATCGAAGTA	0.488																																																	0													83	82	82					8																	98289174		2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.899G>A	8.37:g.98289174C>T	ENSP00000322802:p.Arg300His		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.R300H	ENST00000322128.3	37	c.899	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997316	0.54147	.	.	ENSG00000180543	ENST00000322128	T	0.29397	1.57	4.4	2.54	0.30619	.	0.684094	0.12112	N	0.498428	T	0.46425	0.1392	L	0.54323	1.7	0.36563	D	0.872542	D	0.67145	0.996	D	0.63488	0.915	T	0.51616	-0.8683	10	0.56958	D	0.05	-1.0506	10.8296	0.46652	0.0:0.6279:0.372:0.0	.	300	Q86VY4	TSYL5_HUMAN	H	300	ENSP00000322802:R300H	ENSP00000322802:R300H	R	-	2	0	TSPYL5	98358350	0.001000	0.12720	0.637000	0.29366	0.705000	0.40729	-0.205000	0.09411	0.755000	0.32990	0.563000	0.77884	CGC	TSPYL5	-	pfam_NAP_family		0.488	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	C	NM_033512		98289174	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.764	T	T	98289174	C	T	98289174	3	4	74	1	0	0	0	0	1	0	0	0	16693	768	27	2	358	2	TSPYL5	8	98289174	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2420037	98289174	48074848	500	11195										
VPS13B	157680	genome.wustl.edu	37	chr8	100796656	100796656	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatgaaaatattctgctggcGagtctccacagtcaccagta	9	10	3	1	rs145460276		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:100796656G>A	ENST00000358544.2	+	43	8079	c.7968G>A	c.(7966-7968)gcG>gcA	p.A2656A	VPS13B_ENST00000357162.2_Silent_p.A2631A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2656					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTGCTGGCGAGTCTCCACA	0.473																																					Colon(161;2205 2542 7338 31318)												0								G	,	0,4406		0,0,2203	115	111	112		7968,7893	-5.1	1	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13B	NM_017890.3,NM_152564.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2656/4023,2631/3998	100796656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7968G>A	8.37:g.100796656G>A			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.A2656	ENST00000358544.2	37	c.7968	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100796656	1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.942	A	A	100796656	G	A	100796656	2	1	74	1	0	0	0	0	0	0	0	1	17221	1045	37	1		1	VPS13B	8	100796656	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2507482	100796656	45567366	501	11196										
KCNV1	27012	genome.wustl.edu	37	chr8	110980823	110980823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gattgtcatcccaagggagcGtaatcctgcaacagaacaaa	9	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:110980823G>A	ENST00000524391.1	-	4	2029	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	KCNV1_ENST00000297404.1_Missense_Mutation_p.R333C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	333					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.R333S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCAAGGGAGCGTAATCCTGCA	0.488																																																	1	Substitution - Missense(1)	lung(1)											68	54	59					8																	110980823		2203	4300	6503	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.997C>T	8.37:g.110980823G>A	ENSP00000435954:p.Arg333Cys		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R333C	ENST00000524391.1	37	c.997	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183904	0.57800	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98012	-4.66;-4.66	5.62	4.71	0.59529	Ion transport (1);	0.067651	0.64402	D	0.000015	D	0.98852	0.9612	H	0.95611	3.695	0.49299	D	0.999776	D	0.76494	0.999	P	0.61800	0.894	D	0.99010	1.0814	10	0.87932	D	0	.	12.8497	0.57850	0.0:0.0:0.7087:0.2913	.	333	Q6PIU1	KCNV1_HUMAN	C	333;333;209	ENSP00000435954:R333C;ENSP00000297404:R333C	ENSP00000297404:R333C	R	-	1	0	KCNV1	111049999	0.990000	0.36364	0.997000	0.53966	0.749000	0.42624	2.186000	0.42593	2.628000	0.89032	0.655000	0.94253	CGC	KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl		0.488	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	G	NM_014379		110980823	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	missense	SNP	0.997	A	A	110980823	G	A	110980823	3	1	74	1	0	0	0	0	1	0	0	0	8114	1145	40	2	509	2	KCNV1	8	110980823	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10184167	110980823	35383199	502	11197										
CSMD3	114788	genome.wustl.edu	37	chr8	113657418	113657418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtaaccaggtgataagattGttccactaggccctctaaca	9	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:113657418G>T	ENST00000297405.5	-	20	3474	c.3230C>A	c.(3229-3231)aCa>aAa	p.T1077K	MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1037K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T973K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1077K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1077	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATAAGATTGTTCCACTAGG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													91	89	90					8																	113657418		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3230C>A	8.37:g.113657418G>T	ENSP00000297405:p.Thr1077Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.T1077K	ENST00000297405.5	37	c.3230	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797987	0.90538	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.68	5.68	0.88126	CUB (5);	0.328252	0.29002	N	0.013452	T	0.62344	0.2420	M	0.91090	3.175	0.42186	D	0.9917	P;P;D	0.69078	0.696;0.741;0.997	P;P;D	0.71184	0.535;0.665;0.972	T	0.63139	-0.6704	10	0.09843	T	0.71	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	973;1077;1037	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1037;1077;417;973;1077	ENSP00000345799:T1037K;ENSP00000297405:T1077K;ENSP00000341558:T417K;ENSP00000412263:T973K;ENSP00000343124:T1077K	ENSP00000297405:T1077K	T	-	2	0	CSMD3	113726594	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.675000	0.68123	2.838000	0.97847	0.591000	0.81541	ACA	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113657418	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113657418	G	T	113657418	3	4	74	1	0	0	0	0	1	0	0	0	3951	1377	48	4	8101	4	CSMD3	8	113657418	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2676595	113657418	32706604	503	11198										
CSMD3	114788	genome.wustl.edu	37	chr8	113662424	113662425	+	Frame_Shift_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtggatgactccaccagtggINStttttttcgcatagaagggg							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:113662424_113662425insT	ENST00000297405.5	-	19	3402_3403	c.3158_3159insA	c.(3157-3159)aacfs	p.N1053fs	CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.N1013fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.N949fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.N1053fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGCA	0.376										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0																																										SO:0001589	frameshift_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3159dupA	8.37:g.113662431_113662431dupT	ENSP00000297405:p.Asn1053fs		Q96PZ3	Frame_Shift_Ins	INS	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.N1053fs	ENST00000297405.5	37	c.3159_3158	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.376	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	NM_052900		113662425	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	113662425	-	T	113662424	7	5	74	1	0	1	1	0	0	0	0	0	3951	1252	44	0	8176	0	CSMD3	8	113662424	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	5006	113662424	32701598	504	11199										
ENPP2	5168	genome.wustl.edu	37	chr8	120575239	120575239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagttggaacaggaatggaaCtgccttccacgtacctgaaa	11	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:120575239C>T	ENST00000075322.6	-	24	2337	c.2279G>A	c.(2278-2280)aGt>aAt	p.S760N	ENPP2_ENST00000522167.1_Missense_Mutation_p.S395N|ENPP2_ENST00000427067.2_Missense_Mutation_p.S781N|ENPP2_ENST00000259486.6_Missense_Mutation_p.S812N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S785N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	760					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGAATGGAACTGCCTTCCAC	0.458																																					Melanoma(20;305 879 2501 4818 31020)												0													131	111	118					8																	120575239		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2279G>A	8.37:g.120575239C>T	ENSP00000075322:p.Ser760Asn		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S812N	ENST00000075322.6	37	c.2435	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693544	0.68386	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.67	4.79	0.61399	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.097197	0.85682	D	0.000000	T	0.42268	0.1195	L	0.41236	1.265	0.35945	D	0.833508	D;D;P;D;B	0.76494	0.999;0.997;0.89;0.967;0.003	D;D;D;P;B	0.83275	0.996;0.995;0.922;0.595;0.015	T	0.52593	-0.8555	10	0.51188	T	0.08	.	14.8379	0.70197	0.0:0.8473:0.1527:0.0	.	298;785;760;812;395	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	N	812;781;395;785;760	ENSP00000259486:S812N;ENSP00000403315:S781N;ENSP00000429476:S395N;ENSP00000428291:S785N;ENSP00000075322:S760N	ENSP00000075322:S760N	S	-	2	0	ENPP2	120644420	0.995000	0.38212	0.904000	0.35570	0.974000	0.67602	3.240000	0.51368	1.375000	0.46248	0.557000	0.71058	AGT	ENPP2	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120575239	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	0.991	T	T	120575239	C	T	120575239	3	4	74	1	0	0	0	0	1	0	0	0	5142	565	20	4	320	4	ENPP2	8	120575239	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6912815	120575239	25788783	505	11200										
ENPP2	5168	genome.wustl.edu	37	chr8	120595987	120595987	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attgtaaagttcaatgttttCaaatggaggcactttagtct	8	5	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:120595987C>T	ENST00000075322.6	-	17	1571	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ENPP2_ENST00000522167.1_Missense_Mutation_p.E144K|ENPP2_ENST00000427067.2_Missense_Mutation_p.E501K|ENPP2_ENST00000259486.6_Missense_Mutation_p.E557K|ENPP2_ENST00000522826.1_Missense_Mutation_p.E505K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	505					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAATGTTTTCAAATGGAGGC	0.303																																					Melanoma(20;305 879 2501 4818 31020)												0													97	101	99					8																	120595987		2202	4300	6502	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1513G>A	8.37:g.120595987C>T	ENSP00000075322:p.Glu505Lys		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E557K	ENST00000075322.6	37	c.1669	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007874	0.93287	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.59436	1.845	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.945;0.998;0.992;0.999	D;P;D;D;D	0.70935	0.971;0.787;0.92;0.94;0.956	D	0.85591	0.1246	10	0.87932	D	0	.	19.48	0.95005	0.0:1.0:0.0:0.0	.	22;505;505;557;144	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	557;501;144;505;505	ENSP00000259486:E557K;ENSP00000403315:E501K;ENSP00000429476:E144K;ENSP00000428291:E505K;ENSP00000075322:E505K	ENSP00000075322:E505K	E	-	1	0	ENPP2	120665168	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.814000	0.86154	2.606000	0.88127	0.561000	0.74099	GAA	ENPP2	-	superfamily_Alkaline_phosphatase_core		0.303	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120595987	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120595987	C	T	120595987	3	4	74	1	0	0	0	0	1	0	0	0	5142	835	29	1	1193	1	ENPP2	8	120595987	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	20748	120595987	25768035	506	11201										
ANXA13	312	genome.wustl.edu	37	chr8	124696865	124696865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttacctcggccctggtcacGactatgcgaatcaacgtctc	8	15	3	0	rs530903950		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:124696865G>A	ENST00000419625.1	-	10	888	c.816C>T	c.(814-816)gtC>gtT	p.V272V	ANXA13_ENST00000262219.6_Silent_p.V313V	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	272			V -> I (in dbSNP:rs2294015).		cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCTGGTCACGACTATGCGAA	0.493													G|||	1	0.000199681	8e-04	0	5008	,	,		17708	0		0	False		,,,				2504	0																0													180	138	152					8																	124696865		2203	4300	6503	SO:0001819	synonymous_variant	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.816C>T	8.37:g.124696865G>A			Q9BQR5	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.V313	ENST00000419625.1	37	c.939	CCDS47917.1	8																																																																																			ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin		0.493	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	G	NM_004306		124696865	-1	no_errors	ENST00000262219	ensembl	human	known	70_37	silent	SNP	0.188	A	A	124696865	G	A	124696865	2	1	74	1	0	0	0	0	0	0	0	1	717	1045	37	1		1	ANXA13	8	124696865	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4100878	124696865	21667157	507	11202										
POU5F1B	5462	genome.wustl.edu	37	chr8	128428403	128428403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agacctctcagcctgagagcGaagcaggagtcggggtggag	17	9	1	2	rs569344346	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:128428403G>A	ENST00000465342.2	+	2	1449	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.E98K|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GCCTGAGAGCGAAGCAGGAGT	0.642													g|||	2	0.000399361	0	0	5008	,	,		16230	0		0	False		,,,				2504	0.002																0													3	4	4					8																	128428403		669	1534	2203	SO:0001583	missense	5462			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.292G>A	8.37:g.128428403G>A	ENSP00000419298:p.Glu98Lys		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.E98K	ENST00000465342.2	37	c.292	CCDS55274.1	8	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500207	0.26861	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.54071	0.59;0.59	1.19	-2.12	0.07165	.	0.176829	0.27358	N	0.019735	T	0.34571	0.0902	L	0.58101	1.795	0.09310	N	1	P	0.36974	0.576	B	0.25759	0.063	T	0.15867	-1.0422	10	0.41790	T	0.15	.	4.9927	0.14222	0.4113:0.0:0.5887:0.0	.	98	Q06416	P5F1B_HUMAN	K	98	ENSP00000419298:E98K;ENSP00000375557:E98K	ENSP00000375557:E98K	E	+	1	0	POU5F1B	128497585	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.120000	0.03273	-0.655000	0.05387	0.121000	0.15741	GAA	POU5F1B	-	NULL		0.642	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	G	NM_001159542		128428403	1	no_errors	ENST00000391675	ensembl	human	known	70_37	missense	SNP	0.000	A	A	128428403	G	A	128428403	3	1	74	1	0	0	0	0	1	0	0	0	12306	1059	37	1	294	1	POU5F1B	8	128428403	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3731538	128428403	17935619	508	11203										
TRAPPC9	83696	genome.wustl.edu	37	chr8	141415695	141415695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttgctgtaataggaaatcGcctctttatacttgtcaatt	6	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:141415695G>A	ENST00000438773.2	-	6	1122	c.989C>T	c.(988-990)gCg>gTg	p.A330V	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A321V|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A428V	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	330					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.A428V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATAGGAAATCGCCTCTTTATA	0.408																																																	1	Substitution - Missense(1)	lung(1)											149	127	135					8																	141415695		2203	4300	6503	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.989C>T	8.37:g.141415695G>A	ENSP00000405060:p.Ala330Val		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.A428V	ENST00000438773.2	37	c.1283	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.246175	0.95272	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.75615	2.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79914	-0.1602	9	0.52906	T	0.07	.	18.612	0.91288	0.0:0.0:1.0:0.0	.	330;321;428	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	V	428;321;330	.	ENSP00000373978:A321V	A	-	2	0	TRAPPC9	141484877	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	8.664000	0.91139	2.692000	0.91855	0.655000	0.94253	GCG	TRAPPC9	-	NULL		0.408	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	G	NM_031466		141415695	-1	no_errors	ENST00000389328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141415695	G	A	141415695	3	1	74	1	0	0	0	0	1	0	0	0	16496	1087	38	2	2529	2	TRAPPC9	8	141415695	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	12987292	141415695	4948327	509	11204										
JRK	8629	genome.wustl.edu	37	chr8	143746288	143746288	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcctccaactcctcctcaGaggaggagccttcggcaaac	9	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:143746288G>C	ENST00000507178.2	-	0	1522							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctcctcctcagaggaggagcc	0.622																																																	0													12	13	13					8																	143746288		2034	4187	6221			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746288G>C			O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-		0.622	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	G	NM_003724		143746288	-1	no_errors	ENST00000422119	ensembl	human	known	70_37	rna	SNP	0.000	C	C	143746288	G	C	143746288	1	2	74	0	1	0	0	0	0	0	0	0	7984	942	33	1		1	JRK	8	143746288	RNA	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2330593	143746288	2617734	510	11205										
RHPN1	114822	genome.wustl.edu	37	chr8	144458729	144458729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accgggtgagagagacggtcGccctggagctgagctacgtc	16	11	0	3	rs553239044		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:144458729G>A	ENST00000289013.6	+	3	312	c.211G>A	c.(211-213)Gcc>Acc	p.A71T		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	71					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGAGACGGTCGCCCTGGAGCT	0.672													G|||	1	0.000199681	8e-04	0	5008	,	,		17557	0		0	False		,,,				2504	0																0													26	31	30					8																	144458729		2161	4262	6423	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.211G>A	8.37:g.144458729G>A	ENSP00000289013:p.Ala71Thr		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.A71T	ENST00000289013.6	37	c.211	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	g	17.30	3.353959	0.61293	.	.	ENSG00000158106	ENST00000289013	T	0.17691	2.26	3.93	3.05	0.35203	.	0.061993	0.64402	D	0.000004	T	0.38134	0.1029	M	0.78456	2.415	0.51767	D	0.99993	D	0.89917	1.0	D	0.70016	0.967	T	0.08868	-1.0701	10	0.41790	T	0.15	-8.7304	10.5033	0.44819	0.0977:0.0:0.9023:0.0	.	71	Q8TCX5-2	.	T	71	ENSP00000289013:A71T	ENSP00000289013:A71T	A	+	1	0	RHPN1	144529872	1.000000	0.71417	0.362000	0.25862	0.337000	0.28794	5.436000	0.66538	0.626000	0.30322	0.306000	0.20318	GCC	RHPN1	-	pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	G			144458729	1	no_errors	ENST00000289013	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144458729	G	A	144458729	3	1	74	1	0	0	0	0	1	0	0	0	13380	1087	38	2	221	2	RHPN1	8	144458729	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	712441	144458729	1905293	511	11206										
GSDMD	79792	genome.wustl.edu	37	chr8	144641548	144641548	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tagtccggagagtggtccagGagctggaccatggtggggag	19	7	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:144641548G>C	ENST00000526406.1	+	5	926	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	GSDMD_ENST00000533063.1_Missense_Mutation_p.E63Q|GSDMD_ENST00000262580.4_Missense_Mutation_p.E15Q	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	15					cellular response to extracellular stimulus (GO:0031668)			p.E15K(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTGGTCCAGGAGCTGGACCA	0.632																																																	1	Substitution - Missense(1)	lung(1)											78	71	74					8																	144641548		2203	4300	6503	SO:0001583	missense	79792			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.43G>C	8.37:g.144641548G>C	ENSP00000433209:p.Glu15Gln		D3DWJ9|Q96Q98	Missense_Mutation	SNP	pfam_Gasdermin	p.E15Q	ENST00000526406.1	37	c.43	CCDS34956.1	8	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039661	0.55003	.	.	ENSG00000104518	ENST00000526406;ENST00000529854;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	4.88	4.88	0.63580	.	0.100095	0.43919	D	0.000504	T	0.52629	0.1746	L	0.54908	1.71	0.31745	N	0.635288	D;D;D;D	0.89917	1.0;0.995;0.995;0.994	D;D;D;D	0.91635	0.999;0.989;0.989;0.982	T	0.55211	-0.8176	10	0.31617	T	0.26	-50.5482	13.3904	0.60821	0.0:0.0:1.0:0.0	.	45;15;15;63	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	Q	15;15;15;63;15;15;31;15	ENSP00000433209:E15Q;ENSP00000432351:E15Q;ENSP00000434386:E15Q;ENSP00000433958:E63Q;ENSP00000262580:E15Q;ENSP00000434452:E15Q;ENSP00000436684:E31Q;ENSP00000437065:E15Q	ENSP00000262580:E15Q	E	+	1	0	GSDMD	144712691	1.000000	0.71417	0.988000	0.46212	0.235000	0.25334	4.664000	0.61540	2.528000	0.85240	0.643000	0.83706	GAG	GSDMD	-	pfam_Gasdermin		0.632	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GSDMD	HGNC	protein_coding	OTTHUMT00000382046.3	G	NM_024736		144641548	1	no_errors	ENST00000262580	ensembl	human	known	70_37	missense	SNP	0.986	C	C	144641548	G	C	144641548	3	2	74	1	0	0	0	0	1	0	0	0	6839	1175	41	1	45	1	GSDMD	8	144641548	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	182819	144641548	1722474	512	11207										
CPSF1	29894	genome.wustl.edu	37	chr8	145626433	145626433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgcccgtcggggtccacccGcactcgcggcgtgtgtacat	14	16	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:145626433G>A	ENST00000349769.3	-	6	518	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	142					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGGTCCACCCGCACTCGCGGC	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)												0													18	20	20					8																	145626433		2201	4298	6499	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.424C>T	8.37:g.145626433G>A	ENSP00000339353:p.Arg142Trp		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R142W	ENST00000349769.3	37	c.424	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428898	0.83667	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.44482	0.92	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.64940	0.2644	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.69997	-0.4993	10	0.72032	D	0.01	-7.2889	14.6593	0.68858	0.0:0.0:1.0:0.0	.	142;64;142	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	W	142	ENSP00000339353:R142W	ENSP00000339353:R142W	R	-	1	2	CPSF1	145597241	1.000000	0.71417	0.978000	0.43139	0.773000	0.43773	9.152000	0.94680	2.320000	0.78422	0.561000	0.74099	CGG	CPSF1	-	NULL		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145626433	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145626433	G	A	145626433	3	1	74	1	0	0	0	0	1	0	0	0	3829	1086	38	2	4039	2	CPSF1	8	145626433	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	984885	145626433	737589	513	11208										
NFKBIL2	4796	genome.wustl.edu	37	chr8	145659401	145659401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggagccccatggcaagctggCgcaggccttcgggacccagg	16	14	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:145659401C>T	ENST00000409379.3	-	21	3376	c.3347G>A	c.(3346-3348)cGc>cAc	p.R1116H	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1116					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCAAGCTGGCGCAGGCCTTC	0.652																																																	0													23	26	25					8																	145659401		2200	4300	6500	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3347G>A	8.37:g.145659401C>T	ENSP00000386239:p.Arg1116His		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1116H	ENST00000409379.3	37	c.3347	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212735	0.22289	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.53857	0.6	5.35	0.813	0.18749	.	0.352353	0.29631	N	0.011606	T	0.30759	0.0775	N	0.16478	0.41	0.30372	N	0.782807	B	0.15473	0.013	B	0.12156	0.007	T	0.14364	-1.0475	10	0.46703	T	0.11	-12.6451	6.3413	0.21324	0.0:0.4559:0.0:0.5441	.	1116	Q96HA7	TONSL_HUMAN	H	1116;1115	ENSP00000386239:R1116H	ENSP00000386239:R1116H	R	-	2	0	TONSL	145630209	0.003000	0.15002	0.121000	0.21740	0.563000	0.35712	0.667000	0.25112	0.216000	0.20781	0.462000	0.41574	CGC	TONSL	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	C	NM_013432		145659401	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.491	T	T	145659401	C	T	145659401	3	4	74	1	0	0	0	0	1	0	0	0	10406	768	27	2	813	2	NFKBIL2	8	145659401	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	32968	145659401	704621	514	11209										
NFKBIL2	4796	genome.wustl.edu	37	chr8	145661528	145661528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccacccgttgtgctgtggccGagcaccgaggcctcttctgg	13	15	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:145661528G>A	ENST00000409379.3	-	17	2317	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	763					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGCTGTGGCCGAGCACCGAGG	0.711																																																	0													7	9	8					8																	145661528		2153	4239	6392	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2288C>T	8.37:g.145661528G>A	ENSP00000386239:p.Ser763Leu		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S763L	ENST00000409379.3	37	c.2288	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	3.573	-0.087194	0.07097	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.43688	0.94	3.71	-2.51	0.06365	.	0.947489	0.08755	N	0.898505	T	0.26159	0.0638	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21415	-1.0246	10	0.25751	T	0.34	-4.5159	3.645	0.08181	0.3244:0.0:0.3824:0.2932	.	763	Q96HA7	TONSL_HUMAN	L	763;762	ENSP00000386239:S763L	ENSP00000386239:S763L	S	-	2	0	TONSL	145632336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.784000	0.04528	-2.754000	0.00123	TCG	TONSL	-	NULL		0.711	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145661528	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.000	A	A	145661528	G	A	145661528	3	1	74	1	0	0	0	0	1	0	0	0	10406	1059	37	1	1888	1	NFKBIL2	8	145661528	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2127	145661528	702494	515	11210										
DMRT1	1761	genome.wustl.edu	37	chr9	968024	968024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaagattctggcttggtttCcctctcgagcagctctccta	8	13	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:968024C>T	ENST00000382276.3	+	5	1156	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	DMRT1_ENST00000569227.1_Missense_Mutation_p.S178F	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	336	Pro/Ser-rich.				cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGCTTGGTTTCCCTCTCGAGC	0.517																																																	0													64	61	62					9																	968024		2203	4300	6503	SO:0001583	missense	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1007C>T	9.37:g.968024C>T	ENSP00000371711:p.Ser336Phe		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S336F	ENST00000382276.3	37	c.1007	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244243	0.59103	.	.	ENSG00000137090	ENST00000382276	T	0.21191	2.02	5.49	5.49	0.81192	.	0.325600	0.32819	N	0.005618	T	0.42063	0.1186	L	0.56769	1.78	0.48395	D	0.999642	D	0.76494	0.999	D	0.66196	0.942	T	0.10314	-1.0635	10	0.56958	D	0.05	.	16.2543	0.82503	0.0:0.8587:0.1413:0.0	.	336	Q9Y5R6	DMRT1_HUMAN	F	336	ENSP00000371711:S336F	ENSP00000371711:S336F	S	+	2	0	DMRT1	958024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.595000	0.54016	2.746000	0.94184	0.655000	0.94253	TCC	DMRT1	-	NULL		0.517	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	C	NM_021951		968024	1	no_errors	ENST00000382276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	968024	C	T	968024	3	4	74	1	0	0	0	0	1	0	0	0	4595	855	30	1	1025	1	DMRT1	9	968024	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		968024	140245407	516	11211										
TPD52L3	89882	genome.wustl.edu	37	chr9	6328621	6328621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acatgccaggacagagacctCtgtgggcacatatgaatccc	10	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:6328621C>G	ENST00000344545.5	+	1	273	c.26C>G	c.(25-27)tCt>tGt	p.S9C	TPD52L3_ENST00000381428.1_Missense_Mutation_p.S9C|TPD52L3_ENST00000314556.3_Missense_Mutation_p.S9C	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	9										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACAGAGACCTCTGTGGGCACA	0.483																																																	0													89	92	91					9																	6328621		2203	4300	6503	SO:0001583	missense	89882			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.26C>G	9.37:g.6328621C>G	ENSP00000341677:p.Ser9Cys		Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	pfam_TPD52	p.S9C	ENST00000344545.5	37	c.26	CCDS34986.1	9	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629989	0.67015	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.24723	1.84;1.84;1.84	4.74	1.82	0.25136	.	0.327597	0.29093	N	0.013174	T	0.39145	0.1067	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.995;0.999;0.998	P;D;P	0.65323	0.874;0.934;0.891	T	0.12656	-1.0539	10	0.54805	T	0.06	-0.5434	4.9644	0.14083	0.0:0.6356:0.1735:0.1909	.	9;9;9	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	C	9	ENSP00000341677:S9C;ENSP00000370836:S9C;ENSP00000318665:S9C	ENSP00000318665:S9C	S	+	2	0	TPD52L3	6318621	0.000000	0.05858	0.004000	0.12327	0.842000	0.47809	0.143000	0.16115	0.298000	0.22638	0.511000	0.50034	TCT	TPD52L3	-	pfam_TPD52		0.483	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L3	HGNC	protein_coding	OTTHUMT00000051658.1	C	NM_033516		6328621	1	no_errors	ENST00000344545	ensembl	human	known	70_37	missense	SNP	0.001	G	G	6328621	C	G	6328621	3	3	74	1	0	0	0	0	1	0	0	0	16431	913	32	1	28	1	TPD52L3	9	6328621	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5360597	6328621	134884810	517	11212										
UHRF2	115426	genome.wustl.edu	37	chr9	6497316	6497316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttaaagggaggaagatcagcAaatatgctcctgaagaaggc	12	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:6497316A>G	ENST00000276893.5	+	11	1891	c.1723A>G	c.(1723-1725)Aaa>Gaa	p.K575E	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	575	Methyl-CpG binding and interaction with HDAC1.|YDG. {ECO:0000255|PROSITE- ProRule:PRU00358}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GAAGATCAGCAAATATGCTCC	0.443																																																	0													132	122	125					9																	6497316		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1723A>G	9.37:g.6497316A>G	ENSP00000276893:p.Lys575Glu		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.K575E	ENST00000276893.5	37	c.1723	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781664	0.70222	.	.	ENSG00000147854	ENST00000276893	D	0.85861	-2.04	5.32	5.32	0.75619	SRA-YDG (4);	0.000000	0.85682	D	0.000000	D	0.85080	0.5615	L	0.35288	1.05	0.80722	D	1	P	0.39376	0.67	P	0.50352	0.638	D	0.84484	0.0607	10	0.38643	T	0.18	-15.8288	15.2829	0.73801	1.0:0.0:0.0:0.0	.	575	Q96PU4	UHRF2_HUMAN	E	575	ENSP00000276893:K575E	ENSP00000276893:K575E	K	+	1	0	UHRF2	6487316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.251000	0.95483	2.024000	0.59613	0.528000	0.53228	AAA	UHRF2	-	pfam_SRA_YDG,smart_SRA_YDG,pfscan_SRA_YDG		0.443	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	A	NM_152306		6497316	1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6497316	A	G	6497316	3	3	74	1	0	0	0	0	1	0	0	0	17001	131	5	5	1765	5	UHRF2	9	6497316	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	168695	6497316	134716115	518	11213										
PTPRD	5789	genome.wustl.edu	37	chr9	8341854	8341854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtattggtcttctgtttgaaCcatatagttcctctgggctc	9	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:8341854C>A	ENST00000381196.4	-	37	5329	c.4786G>T	c.(4786-4788)Gtt>Ttt	p.V1596F	PTPRD_ENST00000397617.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1596F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1596F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1186F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1186F|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1583F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1574F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1190F|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1189F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1596	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGTTTGAACCATATAGTTC	0.378										TSP Lung(15;0.13)																																							0													223	212	216					9																	8341854		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4786G>T	9.37:g.8341854C>A	ENSP00000370593:p.Val1596Phe		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.V1596F	ENST00000381196.4	37	c.4786	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548361	0.86127	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.993;0.993;0.993;0.993;1.0;0.987;1.0;1.0;0.999	D	0.96851	0.9625	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1189;1180;1189;1190;1186;1186;1583;1596;1596	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1596;1596;1583;1574;1190;1189;1186;1186;1067;1596;1189;1189	ENSP00000370593:V1596F;ENSP00000348812:V1596F;ENSP00000353187:V1583F;ENSP00000351293:V1574F;ENSP00000347373:V1190F;ENSP00000380741:V1189F;ENSP00000380735:V1186F;ENSP00000440515:V1186F;ENSP00000438164:V1596F;ENSP00000417093:V1189F;ENSP00000380731:V1189F	.	V	-	1	0	PTPRD	8331854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GTT	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8341854	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8341854	C	A	8341854	3	1	74	1	0	0	0	0	1	0	0	0	12829	507	18	4	980	4	PTPRD	9	8341854	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1844538	8341854	132871577	519	11214										
PTPRD	5789	genome.wustl.edu	37	chr9	8389298	8389298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgttgttcccatatcattctCcaaaagtccccaaatgtttc	4	13	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:8389298C>G	ENST00000381196.4	-	34	4863	c.4320G>C	c.(4318-4320)tgG>tgC	p.W1440C	PTPRD_ENST00000397617.3_Missense_Mutation_p.W1033C|PTPRD_ENST00000540109.1_Missense_Mutation_p.W1440C|PTPRD_ENST00000356435.5_Missense_Mutation_p.W1440C|PTPRD_ENST00000397606.3_Missense_Mutation_p.W1033C|PTPRD_ENST00000397611.3_Missense_Mutation_p.W1030C|PTPRD_ENST00000537002.1_Missense_Mutation_p.W1030C|PTPRD_ENST00000360074.4_Missense_Mutation_p.W1427C|PTPRD_ENST00000358503.5_Missense_Mutation_p.W1418C|PTPRD_ENST00000355233.5_Missense_Mutation_p.W1034C|PTPRD_ENST00000486161.1_Missense_Mutation_p.W1033C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1440	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATATCATTCTCCAAAAGTCCC	0.403										TSP Lung(15;0.13)																																							0													180	173	175					9																	8389298		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4320G>C	9.37:g.8389298C>G	ENSP00000370593:p.Trp1440Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.W1440C	ENST00000381196.4	37	c.4320	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430240	0.83776	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.997;0.997;0.997;0.997;1.0;0.996;1.0;1.0;1.0	D	0.99000	1.0811	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1033;1024;1033;1034;1030;1030;1427;1440;1440	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1440;1440;1427;1418;1034;1033;1030;1030;911;1440;1033;1033	ENSP00000370593:W1440C;ENSP00000348812:W1440C;ENSP00000353187:W1427C;ENSP00000351293:W1418C;ENSP00000347373:W1034C;ENSP00000380741:W1033C;ENSP00000380735:W1030C;ENSP00000440515:W1030C;ENSP00000438164:W1440C;ENSP00000417093:W1033C;ENSP00000380731:W1033C	.	W	-	3	0	PTPRD	8379298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	TGG	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8389298	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8389298	C	G	8389298	3	3	74	1	0	0	0	0	1	0	0	0	12829	856	30	1	1458	1	PTPRD	9	8389298	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	47444	8389298	132824133	520	11215										
MPDZ	8777	genome.wustl.edu	37	chr9	13205089	13205089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgtcgaagataaaaaatcttCatctttttcataattttctt	3	7	5	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:13205089C>T	ENST00000319217.7	-	12	1739	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	MPDZ_ENST00000381015.4_Missense_Mutation_p.E498K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E498K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E498K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E498K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E498K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E498K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	498					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAAAAATCTTCATCTTTTTCA	0.259																																																	0													53	49	50					9																	13205089		1506	3361	4867	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1492G>A	9.37:g.13205089C>T	ENSP00000320006:p.Glu498Lys		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E498K	ENST00000319217.7	37	c.1492		9	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543475	0.45280	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.12361	2.73;2.69;2.69;2.7;2.74;2.73;2.73	5.82	4.87	0.63330	.	0.141093	0.32548	N	0.005952	T	0.08447	0.0210	N	0.19112	0.55	0.80722	D	1	B;B;B	0.22211	0.04;0.024;0.066	B;B;B	0.17433	0.008;0.007;0.018	T	0.24941	-1.0146	10	0.13108	T	0.6	.	12.0561	0.53536	0.0:0.827:0.173:0.0	.	498;498;498	B7ZMI4;O75970-3;O75970-2	.;.;.	K	498	ENSP00000320006:E498K;ENSP00000439807:E498K;ENSP00000370410:E498K;ENSP00000444151:E498K;ENSP00000415208:E498K;ENSP00000370403:E498K;ENSP00000446358:E498K	ENSP00000320006:E498K	E	-	1	0	MPDZ	13195089	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	2.032000	0.41127	2.753000	0.94483	0.467000	0.42956	GAA	MPDZ	-	NULL		0.259	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13205089	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13205089	C	T	13205089	3	4	74	1	0	0	0	0	1	0	0	0	9745	835	29	1	4773	1	MPDZ	9	13205089	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4815791	13205089	128008342	521	11216										
C9orf93	203238	genome.wustl.edu	37	chr9	15727996	15727996	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtcttacaggagaatgttGatgccctgattgcagacctc	10	10	1	4	rs576996401		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:15727996G>C	ENST00000380701.3	+	15	2150	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H	CCDC171_ENST00000297641.3_Missense_Mutation_p.D608H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	608																	GGAGAATGTTGATGCCCTGAT	0.453																																																	0													144	121	129					9																	15727996		2203	4300	6503	SO:0001583	missense	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1822G>C	9.37:g.15727996G>C	ENSP00000370077:p.Asp608His		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.D608H	ENST00000380701.3	37	c.1822	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871755	0.72065	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.56776	0.44;0.44	5.76	5.76	0.90799	.	0.101533	0.64402	D	0.000004	T	0.64125	0.2570	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66630	-0.5875	10	0.72032	D	0.01	-19.5706	19.9694	0.97278	0.0:0.0:1.0:0.0	.	616;608;608	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	H	608	ENSP00000297641:D608H;ENSP00000370077:D608H	ENSP00000297641:D608H	D	+	1	0	C9orf93	15717996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.688000	0.74557	2.719000	0.93026	0.655000	0.94253	GAT	CCDC171	-	NULL		0.453	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	G	NM_173550		15727996	1	no_errors	ENST00000380701	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15727996	G	C	15727996	3	2	74	1	0	0	0	0	1	0	0	0	2511	1290	45	1	1876	1	C9orf93	9	15727996	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2522907	15727996	125485435	522	11217										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18776791	18776791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttccagggcccgggcggcCatccacgaagcacagcccgc	12	19	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:18776791C>T	ENST00000380548.4	+	19	2903	c.2564C>T	c.(2563-2565)cCa>cTa	p.P855L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	855						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCGGGCGGCCATCCACGAAG	0.627																																																	0													6	7	6					9																	18776791		1886	4025	5911	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2564C>T	9.37:g.18776791C>T	ENSP00000369921:p.Pro855Leu		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.P855L	ENST00000380548.4	37	c.2564	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	5.197	0.221935	0.09863	.	.	ENSG00000178031	ENST00000380548	T	0.62364	0.03	5.23	2.37	0.29283	.	0.390690	0.08080	U	1.000000	T	0.40956	0.1138	N	0.08118	0	0.53688	D	0.999978	B	0.17852	0.024	B	0.10450	0.005	T	0.06607	-1.0817	10	0.27785	T	0.31	.	8.5577	0.33492	0.0:0.7396:0.1257:0.1346	.	855	Q8N6G6	ATL1_HUMAN	L	855	ENSP00000369921:P855L	ENSP00000369921:P855L	P	+	2	0	ADAMTSL1	18766791	0.892000	0.30473	0.482000	0.27366	0.020000	0.10135	1.715000	0.37971	0.221000	0.20879	-0.311000	0.09066	CCA	ADAMTSL1	-	NULL		0.627	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18776791	1	no_errors	ENST00000380548	ensembl	human	novel	70_37	missense	SNP	0.711	T	T	18776791	C	T	18776791	3	4	74	1	0	0	0	0	1	0	0	0	274	594	21	4	2642	4	ADAMTSL1	9	18776791	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3048795	18776791	122436640	523	11218										
PLIN2	123	genome.wustl.edu	37	chr9	19126395	19126395	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggctactcaaaattcatacCggttgtggatcaactgcaac	8	10	3	0	rs151104975		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:19126395C>T	ENST00000276914.2	-	2	209	c.30G>A	c.(28-30)ccG>ccA	p.P10P	PLIN2_ENST00000411567.1_Splice_Site_p.P10P|PLIN2_ENST00000380464.3_Splice_Site_p.P10P|PLIN2_ENST00000380465.3_Splice_Site_p.P10P	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	10					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAATTCATACCGGTTGTGGAT	0.413																																																	0								C		0,4406		0,0,2203	110	111	110		30	4.4	1	9	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	PLIN2	NM_001122.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		10/438	19126395	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.30+1G>A	9.37:g.19126395C>T			Q9BSC3	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.P10	ENST00000276914.2	37	c.30	CCDS6490.1	9																																																																																			PLIN2	-	pfam_Perilipin,pirsf_Perilipin		0.413	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1	C	NM_001122	Silent	19126395	-1	no_errors	ENST00000276914	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19126395	C	T	19126395	5	4	74	1	0	0	0	0	0	0	1	0	12114	666	23	2	1311	2	PLIN2	9	19126395	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	349604	19126395	122087036	524	11219										
RGP1	57704	genome.wustl.edu	37	chr9	35749827	35749827	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgctggagtgtgtagtgacCgtcaccaacccccttccgcc	11	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:35749827C>T	ENST00000378103.3	-	0	0				GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Silent_p.T65T|RGP1_ENST00000378078.4_Silent_p.T25T|GBA2_ENST00000545786.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGTAGTGACCGTCACCAACC	0.582																																																	0													60	64	62					9																	35749827		2007	4174	6181	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749827C>T	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	pfam_Rgp1	p.T65	ENST00000378103.3	37	c.195	CCDS6589.1	9																																																																																			RGP1	-	NULL		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	C	NM_020944		35749827	1	no_errors	ENST00000456972	ensembl	human	known	70_37	silent	SNP	0.280	T	T	35749827	C	T	35749827	1	4	74	0	1	0	0	0	0	0	0	0	13314	639	23	2		2	RGP1	9	35749827	5'Flank	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	16623432	35749827	105463604	525	11220										
OR13J1	392309	genome.wustl.edu	37	chr9	35870178	35870178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagaggcacaaaggtgggcGtgtagcagatgtccagggta	16	7	1	2	rs569130181	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:35870178G>A	ENST00000377981.2	-	1	283	c.221C>T	c.(220-222)aCg>aTg	p.T74M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGGTGGGCGTGTAGCAGAT	0.577													G|||	2	0.000399361	0.0015	0	5008	,	,		22828	0		0	False		,,,				2504	0																0													124	114	117					9																	35870178		2203	4300	6503	SO:0001583	missense	392309				CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"GPCR / Class A : Olfactory receptors"	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.221C>T	9.37:g.35870178G>A	ENSP00000367219:p.Thr74Met		B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T74M	ENST00000377981.2	37	c.221	CCDS35011.1	9	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698460	0.68386	.	.	ENSG00000168828	ENST00000377981	T	0.00581	6.42	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.04137	0.0115	H	0.94808	3.585	0.42271	D	0.992052	D	0.89917	1.0	D	0.87578	0.998	T	0.00075	-1.2120	10	0.87932	D	0	.	11.3363	0.49505	0.0:0.183:0.817:0.0	.	74	Q8NGT2	O13J1_HUMAN	M	74	ENSP00000367219:T74M	ENSP00000367219:T74M	T	-	2	0	OR13J1	35860178	0.009000	0.17119	0.972000	0.41901	0.859000	0.49053	1.616000	0.36933	2.902000	0.99343	0.650000	0.86243	ACG	OR13J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13J1	HGNC	protein_coding	OTTHUMT00000052381.1	G			35870178	-1	no_errors	ENST00000377981	ensembl	human	known	70_37	missense	SNP	0.996	A	A	35870178	G	A	35870178	3	1	74	1	0	0	0	0	1	0	0	0	10968	1145	40	2	720	2	OR13J1	9	35870178	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	120351	35870178	105343253	526	11221										
MCART1	92014	genome.wustl.edu	37	chr9	37888412	37888412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgaatgggaaatgtgattgCgacattgttgaaggctgcac	13	6	0	3	rs370897815		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:37888412C>T	ENST00000377716.2	-	3	879	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|SLC25A51_ENST00000496760.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	46					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AATGTGATTGCGACATTGTTG	0.408																																																	0								C	THR/ALA	0,4406		0,0,2203	106	99	101		136	5.1	0	9		101	2,8598		0,2,4298	no	missense	MCART1	NM_033412.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	46/298	37888412	2,13004	2203	4300	6503	SO:0001583	missense	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.136G>A	9.37:g.37888412C>T	ENSP00000366945:p.Ala46Thr			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A46T	ENST00000377716.2	37	c.136	CCDS6614.1	9	.	.	.	.	.	.	.	.	.	.	.	3.446	-0.113101	0.06881	0.0	2.33E-4	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.77750	-1.12;-1.12;-1.12	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.420063	0.24178	N	0.040826	T	0.65069	0.2656	N	0.17764	0.52	0.20196	N	0.999922	B	0.12630	0.006	B	0.08055	0.003	T	0.50775	-0.8788	10	0.25751	T	0.34	.	15.9661	0.79970	0.0:1.0:0.0:0.0	.	46	Q9H1U9	MCAR1_HUMAN	T	46	ENSP00000369964:A46T;ENSP00000366945:A46T;ENSP00000242275:A46T	ENSP00000242275:A46T	A	-	1	0	MCART1	37878412	0.069000	0.21087	0.022000	0.16811	0.180000	0.23129	0.648000	0.24828	2.367000	0.80283	0.585000	0.79938	GCA	SLC25A51	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.408	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A51	HGNC	protein_coding	OTTHUMT00000313746.1	C	NM_033412		37888412	-1	no_errors	ENST00000242275	ensembl	human	known	70_37	missense	SNP	0.182	T	T	37888412	C	T	37888412	3	4	74	1	0	0	0	0	1	0	0	0	9392	768	27	2	761	2	MCART1	9	37888412	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2018234	37888412	103325019	527	11222										
PGM5	5239	genome.wustl.edu	37	chr9	71098931	71098931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acggatagttttgaatacgtGgaccctgtggatggcactgt	13	7	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:71098931G>T	ENST00000396396.1	+	9	1675	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	482					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTGAATACGTGGACCCTGTGG	0.512																																																	0													163	138	147					9																	71098931		2203	4300	6503	SO:0001819	synonymous_variant	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1446G>T	9.37:g.71098931G>T			B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.V482	ENST00000396396.1	37	c.1446	CCDS6622.2	9																																																																																			PGM5	-	NULL		0.512	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	G	NM_021965		71098931	1	no_errors	ENST00000396396	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71098931	G	T	71098931	2	4	74	1	0	0	0	0	0	0	0	1	11825	1335	47	4		4	PGM5	9	71098931	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	33210519	71098931	70114500	528	11223										
GDA	9615	genome.wustl.edu	37	chr9	74834422	74834422	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagaaatgctccaaaagaaCgtgagtaactttgttcagag	9	7	2	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:74834422C>T	ENST00000358399.3	+	6	699	c.606C>T	c.(604-606)aaC>aaT	p.N202N	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Splice_Site_p.N177N|GDA_ENST00000238018.4_Splice_Site_p.N202N|GDA_ENST00000376986.1_Splice_Site_p.N160N|GDA_ENST00000545168.1_Splice_Site_p.N128N	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	202					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TCCAAAAGAACGTGAGTAACT	0.328																																																	0													115	107	110					9																	74834422		2202	4300	6502	SO:0001630	splice_region_variant	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.606+1C>T	9.37:g.74834422C>T			B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.N202	ENST00000358399.3	37	c.606	CCDS6641.1	9																																																																																			GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase		0.328	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	C		Silent	74834422	1	no_errors	ENST00000238018	ensembl	human	known	70_37	silent	SNP	0.161	T	T	74834422	C	T	74834422	5	4	74	1	0	0	0	0	0	0	1	0	6325	550	19	2	628	2	GDA	9	74834422	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3735491	74834422	66379009	529	11224										
TMC1	117531	genome.wustl.edu	37	chr9	75420362	75420362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacaatcctcattggggactTtctaagggcatgttttgtga	10	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:75420362T>G	ENST00000297784.5	+	18	2171	c.1631T>G	c.(1630-1632)tTt>tGt	p.F544C	TMC1_ENST00000396237.3_Missense_Mutation_p.F544C|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.F544C	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	544					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTGGGGACTTTCTAAGGGCA	0.378																																					Pancreas(75;173 1345 14232 34245 43413)												0													271	262	265					9																	75420362		2203	4300	6503	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1631T>G	9.37:g.75420362T>G	ENSP00000297784:p.Phe544Cys		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.F544C	ENST00000297784.5	37	c.1631	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861995	0.71949	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.67345	-0.26;-0.26;-0.26	6.08	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.69358	2.11	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80462	-0.1372	10	0.66056	D	0.02	-19.2848	12.6739	0.56882	0.1239:0.0:0.0:0.8761	.	511;511;544	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	C	544;544;511;511;511;538;544	ENSP00000297784:F544C;ENSP00000341433:F544C;ENSP00000379538:F544C	ENSP00000297784:F544C	F	+	2	0	TMC1	74610182	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.628000	0.83189	1.094000	0.41399	-0.468000	0.05107	TTT	TMC1	-	pfam_TMC		0.378	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	T			75420362	1	no_errors	ENST00000297784	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75420362	T	G	75420362	3	3	74	1	0	0	0	0	1	0	0	0	16014	1841	64	5	1685	5	TMC1	9	75420362	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	585940	75420362	65793069	530	11225										
UBQLN1	29979	genome.wustl.edu	37	chr9	86297962	86297962	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccagctgtatttgtttgctGagctgaatgatcctgaggcc	11	9	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:86297962G>A	ENST00000376395.4	-	3	875	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	UBQLN1_ENST00000257468.7_Nonsense_Mutation_p.Q118*	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	118					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTTGTTTGCTGAGCTGAATGA	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)												0													160	146	151					9																	86297962		2203	4300	6503	SO:0001587	stop_gained	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.352C>T	9.37:g.86297962G>A	ENSP00000365576:p.Gln118*		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Nonsense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q118*	ENST00000376395.4	37	c.352	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	41	8.839694	0.98974	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	.	.	.	5.11	5.11	0.69529	.	0.073791	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	12.2945	0.54838	0.0779:0.0:0.9221:0.0	.	.	.	.	X	118	.	ENSP00000257468:Q118X	Q	-	1	0	UBQLN1	85487782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.738000	0.62073	2.529000	0.85273	0.655000	0.94253	CAG	UBQLN1	-	NULL		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86297962	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	86297962	G	A	86297962	4	1	74	1	0	0	0	0	0	1	0	0	16927	1299	45	1	1453	1	UBQLN1	9	86297962	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10877600	86297962	54915469	531	11226										
GOLM1	51280	genome.wustl.edu	37	chr9	88692354	88692354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcctggtacagcttgttgacGctctccagctggaagttgtg	12	10	1	1	rs371311723	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:88692354G>A	ENST00000388712.3	-	3	450	c.282C>T	c.(280-282)agC>agT	p.S94S	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.S94S	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	94					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GCTTGTTGACGCTCTCCAGCT	0.527													G|||	3	0.000599042	0	0.0043	5008	,	,		18918	0		0	False		,,,				2504	0																0								G	,	0,4406		0,0,2203	128	111	117		282,282	-10.2	0.1	9		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GOLM1	NM_016548.3,NM_177937.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	94/402,94/402	88692354	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.282C>T	9.37:g.88692354G>A			Q6IAF4|Q9NRB9	Silent	SNP	NULL	p.S94	ENST00000388712.3	37	c.282	CCDS35054.1	9																																																																																			GOLM1	-	NULL		0.527	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	G	NM_177937		88692354	-1	no_errors	ENST00000388711	ensembl	human	known	70_37	silent	SNP	0.175	A	A	88692354	G	A	88692354	2	1	74	1	0	0	0	0	0	0	0	1	6586	1078	38	2		2	GOLM1	9	88692354	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2394392	88692354	52521077	532	11227										
ECM2	1842	genome.wustl.edu	37	chr9	95277023	95277023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagagcacccgcttggcaggCgcagtgtgcctctgggagga	17	11	1	1	rs560017678		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:95277023C>T	ENST00000344604.5	-	4	1093	c.944G>A	c.(943-945)cGc>cAc	p.R315H	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R293H	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	315	LRRNT.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GCTTGGCAGGCGCAGTGTGCC	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		16033	0		0	False		,,,				2504	0																0													177	140	152					9																	95277023		2203	4300	6503	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.944G>A	9.37:g.95277023C>T	ENSP00000344758:p.Arg315His		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.R315H	ENST00000344604.5	37	c.944	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	C	6.781	0.513139	0.12944	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51574	0.7;0.71	4.97	2.16	0.27623	.	0.730604	0.13326	N	0.396300	T	0.40498	0.1119	N	0.19112	0.55	0.09310	N	0.999997	D;D;D	0.67145	0.986;0.97;0.996	B;B;P	0.53549	0.34;0.27;0.729	T	0.16571	-1.0398	10	0.41790	T	0.15	.	6.9794	0.24694	0.0:0.2425:0.4139:0.3436	.	315;293;293	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	H	293;315	ENSP00000393971:R293H;ENSP00000344758:R315H	ENSP00000344758:R315H	R	-	2	0	ECM2	94316844	0.998000	0.40836	0.154000	0.22540	0.096000	0.18686	3.812000	0.55628	0.264000	0.21851	-0.136000	0.14681	CGC	ECM2	-	NULL		0.587	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	C	NM_001393		95277023	-1	no_errors	ENST00000344604	ensembl	human	known	70_37	missense	SNP	0.253	T	T	95277023	C	T	95277023	3	4	74	1	0	0	0	0	1	0	0	0	4908	768	27	2	1183	2	ECM2	9	95277023	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6584669	95277023	45936408	533	11228										
FAM120AOS	158293	genome.wustl.edu	37	chr9	96212837	96212837	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgtgctgggcagcagctgtCcggccacagcctgtcggttg	15	12	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:96212837C>A	ENST00000375412.5	-	2	1490	c.608G>T	c.(607-609)gGa>gTa	p.G203V	FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000340893.4_5'Flank|FAM120A_ENST00000375389.3_5'Flank|FAM120A_ENST00000333936.5_5'Flank|FAM120A_ENST00000277165.6_5'Flank|FAM120AOS_ENST00000423591.1_Missense_Mutation_p.G21V	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	203										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGCAGCTGTCCGGCCACAGC	0.507																																																	0													57	62	60					9																	96212837		2203	4300	6503	SO:0001583	missense	158293			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 10 opposite strand"	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.608G>T	9.37:g.96212837C>A	ENSP00000364561:p.Gly203Val		A6NN20	Missense_Mutation	SNP	NULL	p.G203V	ENST00000375412.5	37	c.608	CCDS6705.1	9	.	.	.	.	.	.	.	.	.	.	C	7.940	0.742474	0.15642	.	.	ENSG00000188938	ENST00000423591;ENST00000375412;ENST00000375409;ENST00000428378	T;T;T	0.63580	0.05;0.52;-0.05	2.14	-2.54	0.06307	.	.	.	.	.	T	0.33933	0.0880	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.12837	0.008	T	0.14896	-1.0456	9	0.87932	D	0	.	2.8524	0.05562	0.2311:0.2774:0.0:0.4915	.	203	Q5T036	F120S_HUMAN	V	21;203;20;20	ENSP00000414298:G21V;ENSP00000364561:G203V;ENSP00000416978:G20V	ENSP00000364558:G20V	G	-	2	0	FAM120AOS	95252658	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.978000	0.03778	-0.753000	0.04721	0.561000	0.74099	GGA	FAM120AOS	-	NULL		0.507	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120AOS	HGNC	protein_coding	OTTHUMT00000053154.1	C			96212837	-1	no_errors	ENST00000375412	ensembl	human	known	70_37	missense	SNP	0.000	A	A	96212837	C	A	96212837	3	1	74	1	0	0	0	0	1	0	0	0	5431	855	30	3	170	3	FAM120AOS	9	96212837	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	935814	96212837	45000594	534	11229										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100056251	100056251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagcgttccacaacttcaacTactttctgttcttctacaac	3	13	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100056251T>A	ENST00000357054.1	+	13	1044	c.109T>A	c.(109-111)Tac>Aac	p.Y37N	CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.Y37N|RP11-23J9.5_ENST00000375204.2_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.Y77N			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	37						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAACTTCAACTACTTTCTGTT	0.547																																																	0													191	177	182					9																	100056251		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.109T>A	9.37:g.100056251T>A	ENSP00000349562:p.Tyr37Asn		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.Y37N	ENST00000357054.1	37	c.109		9	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430428	0.62844	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.87412	-2.25;-2.25;-2.25	5.49	4.34	0.51931	.	.	.	.	.	D	0.92414	0.7592	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	D	0.92262	0.5818	8	0.87932	D	0	.	9.9598	0.41688	0.0:0.081:0.0:0.919	.	37;37	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	N	77;37;37	ENSP00000364351:Y77N;ENSP00000349562:Y37N;ENSP00000378646:Y37N	ENSP00000349562:Y37N	Y	+	1	0	C9orf174	99096072	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.609000	0.74173	1.021000	0.39600	0.533000	0.62120	TAC	C9orf174	-	NULL		0.547	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		T	NM_020893		100056251	1	no_errors	ENST00000357054	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100056251	T	A	100056251	3	1	74	1	0	0	0	0	1	0	0	0	8260	1522	53	5	115	5	KIAA1529	9	100056251	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3843414	100056251	41157180	535	11230										
TMOD1	7111	genome.wustl.edu	37	chr9	100315615	100315615	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatcctgtgctggaaagtgtGacgctggaaccggagctgga	16	8	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100315615G>A	ENST00000259365.4	+	4	543	c.330G>A	c.(328-330)gtG>gtA	p.V110V	TMOD1_ENST00000395211.2_Silent_p.V110V|TMOD1_ENST00000375175.1_5'Flank	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	110	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TGGAAAGTGTGACGCTGGAAC	0.542																																																	0													123	109	114					9																	100315615		2203	4300	6503	SO:0001819	synonymous_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.330G>A	9.37:g.100315615G>A			B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	pfam_Tropomodulin	p.V110	ENST00000259365.4	37	c.330	CCDS6726.1	9																																																																																			TMOD1	-	pfam_Tropomodulin		0.542	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	G	NM_003275		100315615	1	no_errors	ENST00000259365	ensembl	human	known	70_37	silent	SNP	0.999	A	A	100315615	G	A	100315615	2	1	74	1	0	0	0	0	0	0	0	1	16263	1277	45	1		1	TMOD1	9	100315615	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	259364	100315615	40897816	536	11231										
NCBP1	4686	genome.wustl.edu	37	chr9	100407993	100407993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagatggaccgcatctttgCcaacactgaaagctatctta	8	10	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100407993C>T	ENST00000375147.3	+	6	846	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	197	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CGCATCTTTGCCAACACTGAA	0.413																																					Ovarian(36;879 898 2893 44212 50307)												0													124	116	118					9																	100407993		2203	4300	6503	SO:0001583	missense	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.590C>T	9.37:g.100407993C>T	ENSP00000364289:p.Ala197Val		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.A197V	ENST00000375147.3	37	c.590	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026138	0.54683	.	.	ENSG00000136937	ENST00000375147	T	0.22336	1.96	5.5	5.5	0.81552	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.282494	0.41097	D	0.000943	T	0.10121	0.0248	N	0.01464	-0.85	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29336	-1.0015	10	0.28530	T	0.3	-2.3089	19.3811	0.94536	0.0:1.0:0.0:0.0	.	197	Q09161	NCBP1_HUMAN	V	197	ENSP00000364289:A197V	ENSP00000364289:A197V	A	+	2	0	NCBP1	99447814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.883000	0.56168	2.775000	0.95449	0.650000	0.86243	GCC	NCBP1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.413	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	C	NM_002486		100407993	1	no_errors	ENST00000375147	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100407993	C	T	100407993	3	4	74	1	0	0	0	0	1	0	0	0	10235	739	26	4	612	4	NCBP1	9	100407993	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	92378	100407993	40805438	537	11232										
NCBP1	4686	genome.wustl.edu	37	chr9	100423313	100423313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatgaaatcttcagcattctGaaagatgtaccaaatcctaa	6	8	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100423313G>A	ENST00000375147.3	+	16	1819	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	521					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCAGCATTCTGAAAGATGTAC	0.378																																					Ovarian(36;879 898 2893 44212 50307)												0													154	146	149					9																	100423313		2203	4300	6503	SO:0001819	synonymous_variant	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1563G>A	9.37:g.100423313G>A			B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.L521	ENST00000375147.3	37	c.1563	CCDS6728.1	9																																																																																			NCBP1	-	pfam_MIF4G-like_typ-2,superfamily_ARM-type_fold		0.378	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	G	NM_002486		100423313	1	no_errors	ENST00000375147	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100423313	G	A	100423313	2	1	74	1	0	0	0	0	0	0	0	1	10235	1277	45	1		1	NCBP1	9	100423313	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	15320	100423313	40790118	538	11233										
GABBR2	9568	genome.wustl.edu	37	chr9	101056174	101056174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtgattttttaaaatggcCtttcctccatctgaatgcaa	7	8	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:101056174C>A	ENST00000259455.2	-	18	3012	c.2553G>T	c.(2551-2553)aaG>aaT	p.K851N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	851					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.K851N(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTAAAATGGCCTTTCCTCCAT	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											199	192	195					9																	101056174		2203	4300	6503	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2553G>T	9.37:g.101056174C>A	ENSP00000259455:p.Lys851Asn		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3	p.K851N	ENST00000259455.2	37	c.2553	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099759	0.76983	.	.	ENSG00000136928	ENST00000259455	T	0.80738	-1.41	5.11	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.79329	0.4427	N	0.14661	0.345	0.58432	D	0.999996	D	0.57899	0.981	D	0.69824	0.966	T	0.79463	-0.1793	10	0.46703	T	0.11	.	11.8456	0.52383	0.0:0.9121:0.0:0.0879	.	851	O75899	GABR2_HUMAN	N	851	ENSP00000259455:K851N	ENSP00000259455:K851N	K	-	3	2	GABBR2	100095995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.366000	0.34193	2.645000	0.89757	0.655000	0.94253	AAG	GABBR2	-	prints_GPCR_3_GABA_rcpt_B2		0.383	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	C			101056174	-1	no_errors	ENST00000259455	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101056174	C	A	101056174	3	1	74	1	0	0	0	0	1	0	0	0	6174	680	24	4	280	4	GABBR2	9	101056174	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	632861	101056174	40157257	539	11234										
ZNF462	58499	genome.wustl.edu	37	chr9	109701337	109701337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtctcctctcctcacactccCaccactcctcccaaaaagct	2	21	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:109701337C>T	ENST00000277225.5	+	7	6665	c.6376C>T	c.(6376-6378)Cac>Tac	p.H2126Y	ZNF462_ENST00000441147.2_Missense_Mutation_p.H1032Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.H2186Y|ZNF462_ENST00000542028.1_Missense_Mutation_p.H83Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2126					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCACACTCCCACCACTCCTC	0.552																																																	0													179	171	174					9																	109701337		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6376C>T	9.37:g.109701337C>T	ENSP00000277225:p.His2126Tyr		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H2186Y	ENST00000277225.5	37	c.6556	CCDS35096.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.064410|3.064410	0.55432|0.55432	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028|ENST00000427098	T;T;T;T;T|.	0.15487|.	3.43;3.88;3.99;3.99;2.42|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.186947|.	0.48286|.	D|.	0.000196|.	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.14661|0.14661	0.345|0.345	0.47659|0.47659	D|D	0.999487|0.999487	D;D;D|.	0.59357|.	0.974;0.985;0.963|.	P;P;P|.	0.49999|.	0.628;0.622;0.527|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|5	0.02654|.	T|.	1|.	.|.	19.8603|19.8603	0.96781|0.96781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2186;27;2126|.	Q96JM2-3;Q5T0T2;Q96JM2|.	.;.;ZN462_HUMAN|.	Y|L	2126;2186;1069;1032;83|27	ENSP00000277225:H2126Y;ENSP00000414570:H2186Y;ENSP00000363818:H1069Y;ENSP00000397306:H1032Y;ENSP00000439771:H83Y|.	ENSP00000277225:H2126Y|.	H|P	+|+	1|2	0|0	ZNF462|ZNF462	108741158|108741158	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.762000|0.762000	0.43233|0.43233	3.648000|3.648000	0.54410|0.54410	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	CAC|CCA	ZNF462	-	NULL		0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	C	NM_021224		109701337	1	no_errors	ENST00000457913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109701337	C	T	109701337	3	4	74	1	0	0	0	0	1	0	0	0	17956	594	21	4	6398	4	ZNF462	9	109701337	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	8645163	109701337	31512094	540	11235										
ACTL7B	10880	genome.wustl.edu	37	chr9	111617807	111617807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaggatcttcatggcggtgCggaagatgtactcccagatg	15	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:111617807C>T	ENST00000374667.3	-	1	1432	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	135						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CATGGCGGTGCGGAAGATGTA	0.627																																																	0													68	49	56					9																	111617807		2203	4300	6503	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.404G>A	9.37:g.111617807C>T	ENSP00000363799:p.Arg135His		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R135H	ENST00000374667.3	37	c.404	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985422	0.18889	.	.	ENSG00000148156	ENST00000374667	D	0.94650	-3.48	4.47	-0.841	0.10752	.	1.216040	0.06311	N	0.702600	D	0.85643	0.5744	N	0.05441	-0.05	0.24466	N	0.994412	B	0.02656	0.0	B	0.01281	0.0	T	0.74453	-0.3660	10	0.87932	D	0	.	4.0301	0.09705	0.1478:0.2531:0.0:0.599	.	135	Q9Y614	ACL7B_HUMAN	H	135	ENSP00000363799:R135H	ENSP00000363799:R135H	R	-	2	0	ACTL7B	110657628	1.000000	0.71417	0.986000	0.45419	0.759000	0.43091	2.786000	0.47790	-0.298000	0.08921	-0.982000	0.02568	CGC	ACTL7B	-	pfam_Actin-like,smart_Actin-like		0.627	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617807	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111617807	C	T	111617807	3	4	74	1	0	0	0	0	1	0	0	0	201	768	27	2	847	2	ACTL7B	9	111617807	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1916470	111617807	29595624	541	11236										
SVEP1	79987	genome.wustl.edu	37	chr9	113217900	113217900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgatgggcactcacaaatgaAttccccaactaggtctttac	7	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:113217900A>C	ENST00000401783.2	-	22	4093	c.3757T>G	c.(3757-3759)Ttc>Gtc	p.F1253V	SVEP1_ENST00000302728.8_Missense_Mutation_p.F1253V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.F1230V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1253	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCACAAATGAATTCCCCAACT	0.398																																																	0													75	72	73					9																	113217900		1890	4117	6007	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3757T>G	9.37:g.113217900A>C	ENSP00000384917:p.Phe1253Val		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.F1253V	ENST00000401783.2	37	c.3757	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374623	0.82573	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.93307	-3.2;-3.2;-3.2	5.79	5.79	0.91817	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.89095	3.005	0.43971	D	0.996655	D;D	0.69078	0.997;0.996	D;D	0.81914	0.948;0.995	D	0.97885	1.0294	10	0.87932	D	0	.	16.1169	0.81309	1.0:0.0:0.0:0.0	.	1253;1253	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1253;1230;1253	ENSP00000384917:F1253V;ENSP00000363593:F1230V;ENSP00000304118:F1253V	ENSP00000304118:F1253V	F	-	1	0	SVEP1	112257721	1.000000	0.71417	0.825000	0.32803	0.583000	0.36354	8.930000	0.92872	2.205000	0.71048	0.482000	0.46254	TTC	SVEP1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		A			113217900	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.997	C	C	113217900	A	C	113217900	3	2	74	1	0	0	0	0	1	0	0	0	15450	101	4	5	7066	5	SVEP1	9	113217900	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1600093	113217900	27995531	542	11237										
MUSK	4593	genome.wustl.edu	37	chr9	113550016	113550016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctttcactatggtggcagtaAagatgctcaaagaagaagcc	10	8	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:113550016A>C	ENST00000374448.4	+	14	1959	c.1825A>C	c.(1825-1827)Aag>Cag	p.K609Q	MUSK_ENST00000189978.5_Missense_Mutation_p.K609Q|MUSK_ENST00000416899.2_Missense_Mutation_p.K601Q|MUSK_ENST00000374438.1_Missense_Mutation_p.K125Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGTGGCAGTAAAGATGCTCAA	0.433																																																	0													80	74	76					9																	113550016		1876	4100	5976	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1825A>C	9.37:g.113550016A>C	ENSP00000363571:p.Lys609Gln		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K615Q	ENST00000374448.4	37	c.1843	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946621	0.92593	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.97888	-1.22;-4.59	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.94063	3.49	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	D	0.99529	1.0960	10	0.87932	D	0	.	14.3847	0.66938	1.0:0.0:0.0:0.0	.	609	O15146	MUSK_HUMAN	Q	615;609;609;523;523;125;607;125	ENSP00000363571:K609Q;ENSP00000363561:K125Q	ENSP00000189978:K615Q	K	+	1	0	MUSK	112589837	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	AAG	MUSK	-	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,pfscan_Prot_kinase_cat_dom		0.433	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		A			113550016	1	no_errors	ENST00000189978	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113550016	A	C	113550016	3	2	74	1	0	0	0	0	1	0	0	0	10012	15	1	5	1911	5	MUSK	9	113550016	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	332116	113550016	27663415	543	11238										
OR2K2	26248	genome.wustl.edu	37	chr9	114089963	114089963	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catagagagggcagccccatAatacaaaatcaccacagtca	7	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:114089963A>T	ENST00000374428.1	-	1	837	c.838T>A	c.(838-840)Tat>Aat	p.Y280N	OR2K2_ENST00000302681.1_Missense_Mutation_p.Y251N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GCAGCCCCATAATACAAAATC	0.423																																																	0													113	112	113					9																	114089963		2203	4300	6503	SO:0001583	missense	26248			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.838T>A	9.37:g.114089963A>T	ENSP00000363550:p.Tyr280Asn		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y280N	ENST00000374428.1	37	c.838		9	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362116	0.41902	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.41400	1.0;1.0	4.55	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.975803	0.08324	U	0.963307	T	0.75406	0.3845	H	0.97365	3.99	0.32538	N	0.534026	D	0.89917	1.0	D	0.74674	0.984	T	0.71919	-0.4447	10	0.87932	D	0	.	8.6563	0.34066	0.9079:0.0:0.0921:0.0	.	280	Q8NGT1	OR2K2_HUMAN	N	251;280	ENSP00000305055:Y251N;ENSP00000363550:Y280N	ENSP00000305055:Y251N	Y	-	1	0	OR2K2	113129784	0.857000	0.29778	0.872000	0.34217	0.458000	0.32498	6.983000	0.76180	0.890000	0.36211	-0.342000	0.07992	TAT	OR2K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		A	NM_205859		114089963	-1	no_errors	ENST00000374428	ensembl	human	known	70_37	missense	SNP	0.938	T	T	114089963	A	T	114089963	3	4	74	1	0	0	0	0	1	0	0	0	11029	362	13	5	202	5	OR2K2	9	114089963	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	539947	114089963	27123468	544	11239										
C9orf84	158401	genome.wustl.edu	37	chr9	114490154	114490154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttactggttcttggtcattCtttggtttttcttcttttgc	7	7	5	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:114490154C>T	ENST00000318737.4	-	11	1529	c.1401G>A	c.(1399-1401)aaG>aaA	p.K467K	C9orf84_ENST00000394779.3_Silent_p.K428K|C9orf84_ENST00000394777.4_Silent_p.K428K|C9orf84_ENST00000374287.3_Silent_p.K467K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	467										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTGGTCATTCTTTGGTTTTT	0.358																																																	0													104	105	105					9																	114490154		2203	4300	6503	SO:0001819	synonymous_variant	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1401G>A	9.37:g.114490154C>T			A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.K467	ENST00000318737.4	37	c.1401	CCDS6781.3	9																																																																																			C9orf84	-	NULL		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	C	NM_173521		114490154	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	silent	SNP	0.639	T	T	114490154	C	T	114490154	2	4	74	1	0	0	0	0	0	0	0	1	2505	912	32	1		1	C9orf84	9	114490154	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	400191	114490154	26723277	545	11240										
ROD1	9991	genome.wustl.edu	37	chr9	114990700	114990700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccgccatctgaaccaaggcAttttctttcttattaaacat	4	11	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:114990700A>G	ENST00000374255.2	-	12	1338	c.1191T>C	c.(1189-1191)aaT>aaC	p.N397N	PTBP3_ENST00000374257.1_Silent_p.N369N|PTBP3_ENST00000334318.6_Silent_p.N400N|PTBP3_ENST00000458258.1_Silent_p.N403N|PTBP3_ENST00000343327.2_Silent_p.N302N			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	397	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAACCAAGGCATTTTCTTTCT	0.328																																																	0													116	109	111					9																	114990700		2203	4300	6503	SO:0001819	synonymous_variant	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1191T>C	9.37:g.114990700A>G			B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.N403	ENST00000374255.2	37	c.1209	CCDS6784.1	9																																																																																			PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.328	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	A			114990700	-1	no_errors	ENST00000458258	ensembl	human	known	70_37	silent	SNP	1.000	G	G	114990700	A	G	114990700	2	3	74	1	0	0	0	0	0	0	0	1	13549	214	8	5		5	ROD1	9	114990700	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	500546	114990700	26222731	546	11241										
HSDL2	84263	genome.wustl.edu	37	chr9	115181148	115181148	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggttctttcagcttataccAttgctaagtatggtatgtct	8	7	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:115181148A>T	ENST00000398805.3	+	6	735	c.508A>T	c.(508-510)Att>Ttt	p.I170F	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Intron|HSDL2_ENST00000262542.7_Missense_Mutation_p.I50F|HSDL2_ENST00000398803.1_Missense_Mutation_p.I97F	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	170						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGCTTATACCATTGCTAAGTA	0.274																																																	0													124	108	113					9																	115181148		1825	4070	5895	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.508A>T	9.37:g.115181148A>T	ENSP00000381785:p.Ile170Phe		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.I170F	ENST00000398805.3	37	c.508	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162213	0.57368	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542	D;D;T	0.89552	-2.25;-2.53;1.81	5.54	4.4	0.53042	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.045262	0.85682	D	0.000000	D	0.93278	0.7858	M	0.84326	2.69	0.80722	D	1	D;P	0.65815	0.995;0.84	P;P	0.61722	0.893;0.45	D	0.93330	0.6700	10	0.87932	D	0	.	11.1009	0.48174	0.9267:0.0:0.0732:0.0	.	97;170	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	F	170;97;50	ENSP00000381785:I170F;ENSP00000381783:I97F;ENSP00000262542:I50F	ENSP00000262542:I50F	I	+	1	0	HSDL2	114220969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.615000	0.90920	1.044000	0.40200	0.455000	0.32223	ATT	HSDL2	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH		0.274	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	A	NM_032303		115181148	1	no_errors	ENST00000398805	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115181148	A	T	115181148	3	4	74	1	0	0	0	0	1	0	0	0	7414	217	8	5	530	5	HSDL2	9	115181148	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	190448	115181148	26032283	547	11242										
ALAD	210	genome.wustl.edu	37	chr9	116153129	116153129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcagacatcacaggccaccaGgaggttggggaaggtcttcc	14	11	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:116153129G>T	ENST00000409155.3	-	5	542	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.L99M	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	116					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CAGGCCACCAGGAGGTTGGGG	0.627																																																	0													101	86	91					9																	116153129		2203	4300	6503	SO:0001583	missense	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.346C>A	9.37:g.116153129G>T	ENSP00000386284:p.Leu116Met		A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.L116M	ENST00000409155.3	37	c.346	CCDS6794.2	9	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187097	0.57909	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.88046	-2.33;-2.33	5.67	2.86	0.33363	Aldolase-type TIM barrel (1);	0.065619	0.64402	D	0.000007	D	0.91520	0.7322	M	0.77616	2.38	0.53005	D	0.999963	B;D;D	0.62365	0.445;0.98;0.991	B;D;D	0.69479	0.242;0.951;0.964	D	0.89980	0.4100	10	0.46703	T	0.11	-6.4476	9.6638	0.39972	0.219:0.0:0.781:0.0	.	116;99;145	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	M	116;99	ENSP00000386284:L116M;ENSP00000277315:L99M	ENSP00000277315:L99M	L	-	1	2	ALAD	115192950	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	2.747000	0.47475	0.756000	0.33013	0.563000	0.77884	CTG	ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth		0.627	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3	G	NM_001003945		116153129	-1	no_errors	ENST00000409155	ensembl	human	known	70_37	missense	SNP	0.995	T	T	116153129	G	T	116153129	3	4	74	1	0	0	0	0	1	0	0	0	483	991	35	4	678	4	ALAD	9	116153129	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	971981	116153129	25060302	548	11243										
KIF12	113220	genome.wustl.edu	37	chr9	116854204	116854204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcagggtggctggctgcgGccacgtcgcagggagctgcc	18	13	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:116854204G>A	ENST00000374118.3	-	16	1716	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	626	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCTGGCTGCGGCCACGTCGCA	0.657																																																	0													36	36	36					9																	116854204		2203	4300	6503	SO:0001819	synonymous_variant	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1479C>T	9.37:g.116854204G>A			Q5TBE0	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G626	ENST00000374118.3	37	c.1878	CCDS6801.1	9																																																																																			KIF12	-	NULL		0.657	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116854204	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	silent	SNP	0.821	A	A	116854204	G	A	116854204	2	1	74	1	0	0	0	0	0	0	0	1	8293	1190	42	4		4	KIF12	9	116854204	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	701075	116854204	24359227	549	11244										
LHX6	26468	genome.wustl.edu	37	chr9	124989703	124989703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcaccatggcgggcggcgcGgtcccttcaagacagcgggt	15	14	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:124989703G>A	ENST00000373755.2	-	1	162	c.54C>T	c.(52-54)acC>acT	p.T18T	LHX6_ENST00000541397.2_Silent_p.T36T|LHX6_ENST00000394319.4_Silent_p.T47T|LHX6_ENST00000559529.1_5'UTR|LHX6_ENST00000340587.3_Silent_p.T47T|LHX6_ENST00000373754.2_Silent_p.T18T	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	18					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						CGGGCGGCGCGGTCCCTTCAA	0.721																																																	0													8	11	10					9																	124989703		2105	4097	6202	SO:0001819	synonymous_variant	26468			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.54C>T	9.37:g.124989703G>A			A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.T47	ENST00000373755.2	37	c.141	CCDS56583.1	9																																																																																			LHX6	-	NULL		0.721	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	G	NM_014368		124989703	-1	no_errors	ENST00000394319	ensembl	human	known	70_37	silent	SNP	1.000	A	A	124989703	G	A	124989703	2	1	74	1	0	0	0	0	0	0	0	1	8795	1103	39	2		2	LHX6	9	124989703	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8135499	124989703	16223728	550	11245										
OR1Q1	158131	genome.wustl.edu	37	chr9	125377830	125377830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctattcagtgaccaagggtCgcattataacagtcgtgtac	10	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:125377830C>T	ENST00000297913.2	+	1	883	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	272					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GACCAAGGGTCGCATTATAAC	0.527																																																	0													66	64	65					9																	125377830		2203	4300	6503	SO:0001583	missense	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.814C>T	9.37:g.125377830C>T	ENSP00000297913:p.Arg272Cys		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R272C	ENST00000297913.2	37	c.814	CCDS35125.1	9	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572804	0.28092	.	.	ENSG00000165202	ENST00000297913	T	0.00130	8.69	5.57	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00552	0.0018	M	0.88640	2.97	0.19300	N	0.99997	D	0.89917	1.0	D	0.78314	0.991	T	0.29397	-1.0013	10	0.66056	D	0.02	-7.5851	13.5884	0.61944	0.1563:0.8437:0.0:0.0	.	272	Q15612	OR1Q1_HUMAN	C	272	ENSP00000297913:R272C	ENSP00000297913:R272C	R	+	1	0	OR1Q1	124417651	0.000000	0.05858	0.103000	0.21229	0.226000	0.24999	0.473000	0.22132	1.569000	0.49696	0.650000	0.86243	CGC	OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	C			125377830	1	no_errors	ENST00000297913	ensembl	human	known	70_37	missense	SNP	0.078	T	T	125377830	C	T	125377830	3	4	74	1	0	0	0	0	1	0	0	0	10995	884	31	1	816	1	OR1Q1	9	125377830	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	388127	125377830	15835601	551	11246										
GPR21	2844	genome.wustl.edu	37	chr9	125797555	125797555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgcttcagcagccagagtgGggagactggggaagtgcagg	18	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:125797555G>T	ENST00000373642.1	+	1	750	c.710G>T	c.(709-711)gGg>gTg	p.G237V	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	237					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AGCCAGAGTGGGGAGACTGGG	0.498																																																	0													132	125	128					9																	125797555		2203	4300	6503	SO:0001583	missense	2844			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.710G>T	9.37:g.125797555G>T	ENSP00000362746:p.Gly237Val		B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G237V	ENST00000373642.1	37	c.710	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569501	0.13560	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.74842	-0.88	5.67	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.580959	0.15610	U	0.253454	T	0.51991	0.1707	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.23084	-1.0198	10	0.27082	T	0.32	-0.0284	5.3548	0.16055	0.121:0.1158:0.6431:0.1201	.	237	Q99679	GPR21_HUMAN	V	237	ENSP00000362746:G237V	ENSP00000362746:G237V	G	+	2	0	GPR21	124837376	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.125000	0.42016	0.066000	0.16515	0.467000	0.42956	GGG	GPR21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	G	NM_005294		125797555	1	no_errors	ENST00000373642	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125797555	G	T	125797555	3	4	74	1	0	0	0	0	1	0	0	0	6700	1232	43	4	712	4	GPR21	9	125797555	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	419725	125797555	15415876	552	11247										
WDR38	401551	genome.wustl.edu	37	chr9	127619875	127619875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gactagacgtcaaatatcccGcacgtccaaatcacccaggg	8	14	2	1	rs368166491		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:127619875G>A	ENST00000373574.1	+	9	967	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	304					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAAATATCCCGCACGTCCAAA	0.577																																																	0								G	HIS/ARG	0,4204		0,0,2102	66	75	72		911	0.5	0	9		72	2,8430		0,2,4214	no	missense	WDR38	NM_001045476.1	29	0,2,6316	AA,AG,GG		0.0237,0.0,0.0158	possibly-damaging	304/315	127619875	2,12634	2102	4216	6318	SO:0001583	missense	401551				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"WD repeat domain containing"	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.911G>A	9.37:g.127619875G>A	ENSP00000362677:p.Arg304His		A0PK24	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R304H	ENST00000373574.1	37	c.911	CCDS43876.1	9	.	.	.	.	.	.	.	.	.	.	G	8.723	0.914839	0.17907	0.0	2.37E-4	ENSG00000136918	ENST00000373574	T	0.54479	0.57	4.45	0.485	0.16830	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.789640	0.03135	N	0.165779	T	0.46034	0.1372	L	0.49571	1.57	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.17319	-1.0373	10	0.39692	T	0.17	.	4.4523	0.11626	0.2822:0.1629:0.5549:0.0	.	304;305;294;304	B9EK65;B7ZW23;B7ZW24;Q5JTN6	.;.;.;WDR38_HUMAN	H	304	ENSP00000362677:R304H	ENSP00000362677:R304H	R	+	2	0	WDR38	126659696	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.499000	0.22546	0.002000	0.14630	-0.812000	0.03155	CGC	WDR38	-	pfscan_WD40_repeat_dom		0.577	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR38	HGNC	protein_coding	OTTHUMT00000054048.1	G	NM_001045476		127619875	1	no_errors	ENST00000373574	ensembl	human	known	70_37	missense	SNP	0.000	A	A	127619875	G	A	127619875	3	1	74	1	0	0	0	0	1	0	0	0	17323	1087	38	2	945	2	WDR38	9	127619875	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1822320	127619875	13593556	553	11248										
ZBTB43	23099	genome.wustl.edu	37	chr9	129595499	129595499	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgtacagcaagcccagcatCatggctcacaaacgctggat	9	12	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:129595499C>T	ENST00000373464.4	+	3	975	c.711C>T	c.(709-711)atC>atT	p.I237I	ZBTB43_ENST00000449886.1_Silent_p.I237I|ZBTB43_ENST00000373457.1_Silent_p.I237I	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCCCAGCATCATGGCTCACA	0.627																																																	0													46	42	43					9																	129595499		2203	4300	6503	SO:0001819	synonymous_variant	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.711C>T	9.37:g.129595499C>T			Q5JU96	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I237	ENST00000373464.4	37	c.711	CCDS6867.1	9																																																																																			ZBTB43	-	NULL		0.627	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	C	NM_001135776		129595499	1	no_errors	ENST00000373457	ensembl	human	known	70_37	silent	SNP	0.999	T	T	129595499	C	T	129595499	2	4	74	1	0	0	0	0	0	0	0	1	17574	816	29	1		1	ZBTB43	9	129595499	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1975624	129595499	11617932	554	11249										
PTGES	9536	genome.wustl.edu	37	chr9	132502013	132502013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccaggtaggccacggtgtgTgccacacggcccacgaggaa	14	14	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:132502013T>C	ENST00000340607.4	-	3	370	c.336A>G	c.(334-336)gcA>gcG	p.A112A	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	112	Glutathione binding.				acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CCACGGTGTGTGCCACACGGC	0.622																																																	0													64	48	53					9																	132502013		2192	4290	6482	SO:0001819	synonymous_variant	9536			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.336A>G	9.37:g.132502013T>C			O14900|Q5SZC0	Silent	SNP	pfam_Membr-assoc_MAPEG	p.A112	ENST00000340607.4	37	c.336	CCDS6927.1	9																																																																																			PTGES	-	pfam_Membr-assoc_MAPEG		0.622	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES	HGNC	protein_coding	OTTHUMT00000054599.2	T	NM_004878		132502013	-1	no_errors	ENST00000340607	ensembl	human	known	70_37	silent	SNP	0.060	C	C	132502013	T	C	132502013	2	2	74	1	0	0	0	0	0	0	0	1	12774	1683	59	5		5	PTGES	9	132502013	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	2906514	132502013	8711418	555	11250										
GPR107	57720	genome.wustl.edu	37	chr9	132890943	132890943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggatgaaacggccacactgGtcttctttgttctaacgggg	12	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:132890943G>C	ENST00000372406.1	+	19	2116	c.1609G>C	c.(1609-1611)Gtc>Ctc	p.V537L	GPR107_ENST00000372410.3_Missense_Mutation_p.V508L|GPR107_ENST00000347136.6_Missense_Mutation_p.V489L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	537						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GGCCACACTGGTCTTCTTTGT	0.433																																																	0													185	185	185					9																	132890943		2203	4300	6503	SO:0001583	missense	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1609G>C	9.37:g.132890943G>C	ENSP00000361483:p.Val537Leu		A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain	p.V537L	ENST00000372406.1	37	c.1609	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974047	0.74246	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.25414	1.8;1.81;1.85	5.63	3.8	0.43715	.	0.242381	0.35615	N	0.003099	T	0.27731	0.0682	L	0.40543	1.245	0.43662	D	0.996089	P;D;P	0.53745	0.879;0.962;0.879	B;P;B	0.51701	0.36;0.677;0.36	T	0.01561	-1.1324	10	0.31617	T	0.26	-7.601	8.694	0.34284	0.233:0.0:0.767:0.0	.	508;537;489	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	537;489;508	ENSP00000361483:V537L;ENSP00000336988:V489L;ENSP00000361487:V508L	ENSP00000336988:V489L	V	+	1	0	GPR107	131930764	1.000000	0.71417	0.968000	0.41197	0.930000	0.56654	3.199000	0.51043	0.736000	0.32559	0.561000	0.74099	GTC	GPR107	-	pfam_TM_rcpt_euk		0.433	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	G			132890943	1	no_errors	ENST00000372406	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132890943	G	C	132890943	3	2	74	1	0	0	0	0	1	0	0	0	6642	1261	44	4	1683	4	GPR107	9	132890943	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	388930	132890943	8322488	556	11251										
ASS1	445	genome.wustl.edu	37	chr9	133352327	133352327	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccccaacacccctgacattCtcgagatcgagttcaaaaaa	5	15	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:133352327C>G	ENST00000372394.1	+	10	1148	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Missense_Mutation_p.L223V|ASS1_ENST00000372393.3_Missense_Mutation_p.L223V			P00966	ASSY_HUMAN	argininosuccinate synthase 1	223					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCCTGACATTCTCGAGATCGA	0.562																																																	0													101	106	104					9																	133352327		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.667C>G	9.37:g.133352327C>G	ENSP00000361471:p.Leu223Val		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.L223V	ENST00000372394.1	37	c.667	CCDS6933.1	9	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694010	0.30052	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	D;D;D	0.98135	-4.74;-4.74;-4.74	5.95	3.79	0.43588	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.64402	U	0.000013	D	0.92286	0.7553	N	0.13140	0.3	0.58432	D	0.999996	B;B;B;B;B	0.28636	0.033;0.218;0.218;0.019;0.019	B;B;B;B;B	0.32022	0.029;0.139;0.139;0.019;0.019	D	0.88722	0.3230	10	0.07482	T	0.82	.	10.5186	0.44905	0.0:0.7852:0.0:0.2148	.	223;106;106;223;223	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	V	223	ENSP00000253004:L223V;ENSP00000361471:L223V;ENSP00000361469:L223V	ENSP00000361470:L223V	L	+	1	0	ASS1	132342148	1.000000	0.71417	0.927000	0.36925	0.685000	0.39939	3.097000	0.50251	1.521000	0.48983	0.563000	0.77884	CTC	ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.562	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	C	NM_000050		133352327	1	no_errors	ENST00000334909	ensembl	human	known	70_37	missense	SNP	0.970	G	G	133352327	C	G	133352327	3	3	74	1	0	0	0	0	1	0	0	0	1062	913	32	1	697	1	ASS1	9	133352327	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	461384	133352327	7861104	557	11252										
ASS1	445	genome.wustl.edu	37	chr9	133352341	133352341	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacattctcgagatcgagttCaaaaaaggtatgtgcccacc	9	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:133352341C>T	ENST00000372394.1	+	10	1162	c.681C>T	c.(679-681)ttC>ttT	p.F227F	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Silent_p.F227F|ASS1_ENST00000372393.3_Silent_p.F227F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	227					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGATCGAGTTCAAAAAAGGTA	0.557																																																	0													82	84	83					9																	133352341		2203	4300	6503	SO:0001819	synonymous_variant	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.681C>T	9.37:g.133352341C>T			Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.F227	ENST00000372394.1	37	c.681	CCDS6933.1	9																																																																																			ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.557	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	C	NM_000050		133352341	1	no_errors	ENST00000334909	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133352341	C	T	133352341	2	4	74	1	0	0	0	0	0	0	0	1	1062	825	29	1		1	ASS1	9	133352341	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	14	133352341	7861090	558	11253										
DDX31	64794	genome.wustl.edu	37	chr9	135505740	135505740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccatggcagccaatccgggcGgttcttccaatccggtggat	12	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:135505740G>A	ENST00000372159.3	-	16	2008	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	DDX31_ENST00000438527.3_Silent_p.T490T|DDX31_ENST00000372153.1_Missense_Mutation_p.P611L	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	619	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CAATCCGGGCGGTTCTTCCAA	0.478																																																	0													105	111	109					9																	135505740		2203	4300	6503	SO:0001819	synonymous_variant	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1857C>T	9.37:g.135505740G>A			Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P611L	ENST00000372159.3	37	c.1832	CCDS6951.1	9	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816108	0.16607	.	.	ENSG00000125485	ENST00000372153	T	0.03301	3.98	5.54	-4.3	0.03710	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.24693	-1.0153	8	0.72032	D	0.01	-24.1219	8.9883	0.36008	0.3462:0.4654:0.1884:0.0	.	611	Q9H8H2-2	.	L	611	ENSP00000361226:P611L	ENSP00000361226:P611L	P	-	2	0	DDX31	134495561	0.014000	0.17966	0.790000	0.31976	0.870000	0.49936	-1.221000	0.02968	-1.353000	0.02191	-0.355000	0.07637	CCG	DDX31	-	smart_Helicase_C,pfscan_Helicase_C		0.478	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DDX31	HGNC	protein_coding	OTTHUMT00000054794.1	G	NM_138620		135505740	-1	no_errors	ENST00000372153	ensembl	human	known	70_37	missense	SNP	0.762	A	A	135505740	G	A	135505740	2	1	74	1	0	0	0	0	0	0	0	1	4361	1103	39	2		2	DDX31	9	135505740	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2153399	135505740	5707691	559	11254										
CEL	1056	genome.wustl.edu	37	chr9	135947029	135947029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgactccgagaccgcccccGtgccgcccacgggtgactcc	12	19	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:135947029G>A	ENST00000372080.4	+	11	2165	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	CEL_ENST00000351304.7_Missense_Mutation_p.V648M	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	714	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACCGCCCCCGTGCCGCCCAC	0.761																																																	0													6	8	8					9																	135947029		1651	3827	5478	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2149G>A	9.37:g.135947029G>A	ENSP00000361151:p.Val717Met		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V717M	ENST00000372080.4	37	c.2149	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	g	5.513	0.279641	0.10458	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72167	-0.42;-0.63	2.24	-0.999	0.10208	.	.	.	.	.	T	0.39682	0.1087	N	0.19112	0.55	0.09310	N	1	P	0.45715	0.865	B	0.26864	0.074	T	0.38023	-0.9680	9	0.44086	T	0.13	.	1.258	0.01996	0.1748:0.1789:0.465:0.1813	.	714	P19835	CEL_HUMAN	M	717;648;683	ENSP00000361151:V717M;ENSP00000342217:V648M	ENSP00000304021:V683M	V	+	1	0	CEL	134936850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.075000	0.03423	-0.226000	0.09899	-2.060000	0.00399	GTG	CEL	-	NULL		0.761	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	G			135947029	1	no_errors	ENST00000372080	ensembl	human	known	70_37	missense	SNP	0.000	A	A	135947029	G	A	135947029	3	1	74	1	0	0	0	0	1	0	0	0	3214	1145	40	2	2191	2	CEL	9	135947029	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	441289	135947029	5266402	560	11255										
C9orf96	169436	genome.wustl.edu	37	chr9	136265575	136265575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccggagctggtggaggtggtGgtcacgaccatggagctaca	17	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:136265575G>A	ENST00000371957.3	+	12	1223	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		372							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGAGGTGGTGGTCACGACCA	0.657																																																	0													134	94	108					9																	136265575		2203	4300	6503	SO:0001819	synonymous_variant	169436																														ENST00000371957.3:c.1116G>A	9.37:g.136265575G>A			Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V372	ENST00000371957.3	37	c.1116	CCDS35169.1	9																																																																																			C9orf96	-	superfamily_ARM-type_fold		0.657	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	G			136265575	1	no_errors	ENST00000371957	ensembl	human	known	70_37	silent	SNP	0.000	A	A	136265575	G	A	136265575	2	1	74	1	0	0	0	0	0	0	0	1	2513	1335	47	4		4	C9orf96	9	136265575	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	318546	136265575	4947856	561	11256										
ADAMTS13	11093	genome.wustl.edu	37	chr9	136310925	136310925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcggcagggtcgtgctccGtctcctgcgggcgaggtgag	18	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:136310925G>A	ENST00000371929.3	+	21	3160	c.2716G>A	c.(2716-2718)Gtc>Atc	p.V906I	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.V906I|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.V875I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	906	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCGTGCTCCGTCTCCTGCGG	0.647																																																	0													42	42	42					9																	136310925		2203	4299	6502	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2716G>A	9.37:g.136310925G>A	ENSP00000360997:p.Val906Ile		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V906I	ENST00000371929.3	37	c.2716	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144664	0.37825	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.69040	-0.36;-0.37;-0.35	5.8	4.89	0.63831	.	.	.	.	.	T	0.48241	0.1489	L	0.29908	0.895	0.80722	D	1	P;B;B	0.39094	0.659;0.268;0.268	B;B;B	0.27500	0.067;0.08;0.08	T	0.47886	-0.9082	9	0.33141	T	0.24	.	11.7865	0.52045	0.086:0.0:0.914:0.0	.	906;875;906	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	I	906;906;875	ENSP00000360997:V906I;ENSP00000347927:V906I;ENSP00000348997:V875I	ENSP00000347927:V906I	V	+	1	0	ADAMTS13	135300746	0.820000	0.29190	0.909000	0.35828	0.541000	0.35023	3.193000	0.50997	1.423000	0.47198	0.655000	0.94253	GTC	ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	G	NM_139025		136310925	1	no_errors	ENST00000371929	ensembl	human	known	70_37	missense	SNP	0.975	A	A	136310925	G	A	136310925	3	1	74	1	0	0	0	0	1	0	0	0	258	1145	40	2	2798	2	ADAMTS13	9	136310925	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	45350	136310925	4902506	562	11257										
SNAPC4	6621	genome.wustl.edu	37	chr9	139276738	139276738	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgagcagccgtgttggccctGagcaccctcagcacggtctc	12	16	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:139276738G>C	ENST00000298532.2	-	16	2402	c.2034C>G	c.(2032-2034)ctC>ctG	p.L678L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGTTGGCCCTGAGCACCCTCA	0.662																																																	0													74	62	66					9																	139276738		2203	4300	6503	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2034C>G	9.37:g.139276738G>C				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L678	ENST00000298532.2	37	c.2034	CCDS6998.1	9																																																																																			SNAPC4	-	NULL		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139276738	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	silent	SNP	0.002	C	C	139276738	G	C	139276738	2	2	74	1	0	0	0	0	0	0	0	1	14867	1277	45	1		1	SNAPC4	9	139276738	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2965813	139276738	1936693	563	11258										
MAN1B1	11253	genome.wustl.edu	37	chr9	139994210	139994210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcatgcatggaaaggatacCgcaagtttgcatggggccat	13	8	0	0	rs541409222		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:139994210C>T	ENST00000371589.4	+	6	866	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	265					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAAAGGATACCGCAAGTTTGC	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		23329	0		0	False		,,,				2504	0																0													261	194	217					9																	139994210		2203	4300	6503	SO:0001583	missense	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.793C>T	9.37:g.139994210C>T	ENSP00000360645:p.Arg265Cys		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R265C	ENST00000371589.4	37	c.793	CCDS7029.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.90|10.90	1.482028|1.482028	0.26598|0.26598	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000535144|ENST00000371589	.|T	.|0.72725	.|-0.68	4.69|4.69	3.7|3.7	0.42460|0.42460	.|.	.|0.324184	.|0.23046	.|U	.|0.052548	D|D	0.82697|0.82697	0.5093|0.5093	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.89917	.|1.0;0.955;0.712;0.93	.|P;B;B;P	.|0.62089	.|0.898;0.321;0.117;0.506	D|D	0.84747|0.84747	0.0754|0.0754	5|9	.|.	.|.	.|.	-12.4438|-12.4438	9.4615|9.4615	0.38787|0.38787	0.4405:0.5595:0.0:0.0|0.4405:0.5595:0.0:0.0	.|.	.|166;229;265;166	.|B4DPS9;B4DR05;Q9UKM7;Q68D80	.|.;.;MA1B1_HUMAN;.	L|C	238|265	.|ENSP00000360645:R265C	.|.	P|R	+|+	2|1	0|0	MAN1B1|MAN1B1	139114031|139114031	1.000000|1.000000	0.71417|0.71417	0.757000|0.757000	0.31301|0.31301	0.039000|0.039000	0.13416|0.13416	1.542000|1.542000	0.36137|0.36137	2.172000|2.172000	0.68678|0.68678	0.491000|0.491000	0.48974|0.48974	CCG|CGC	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.572	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	C	NM_016219		139994210	1	no_errors	ENST00000371589	ensembl	human	known	70_37	missense	SNP	0.996	T	T	139994210	C	T	139994210	3	4	74	1	0	0	0	0	1	0	0	0	9235	652	23	2	815	2	MAN1B1	9	139994210	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	717472	139994210	1219221	564	11259										
PNPLA7	375775	genome.wustl.edu	37	chr9	140396175	140396175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccggccatccaacagagatGagtcctaaaaacagagcaga	9	12	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:140396175G>A	ENST00000277531.4	-	14	1589	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	PNPLA7_ENST00000406427.1_Missense_Mutation_p.S493L|PNPLA7_ENST00000371457.1_Missense_Mutation_p.S74L	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	468				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACAGAGATGAGTCCTAAAA	0.612																																																	0													38	37	37					9																	140396175		2187	4285	6472	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1403C>T	9.37:g.140396175G>A	ENSP00000277531:p.Ser468Leu		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S493L	ENST00000277531.4	37	c.1478	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027712	0.35797	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.25;0.25;0.26	5.2	5.2	0.72013	Cyclic nucleotide-binding-like (1);Cyclic nucleotide-binding domain (2);	0.230341	0.45867	D	0.000331	T	0.50257	0.1605	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50021	-0.8876	10	0.52906	T	0.07	-3.6936	11.2303	0.48907	0.0838:0.0:0.9162:0.0	.	493;468	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	L	74;468;493;468;459	ENSP00000360512:S74L;ENSP00000277531:S468L;ENSP00000384610:S493L;ENSP00000400582:S459L	ENSP00000277531:S468L	S	-	2	0	PNPLA7	139515996	1.000000	0.71417	0.226000	0.23910	0.073000	0.16967	6.673000	0.74482	2.408000	0.81797	0.544000	0.68410	TCA	PNPLA7	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	G	NM_152286		140396175	-1	no_errors	ENST00000406427	ensembl	human	known	70_37	missense	SNP	0.981	A	A	140396175	G	A	140396175	3	1	74	1	0	0	0	0	1	0	0	0	12194	1294	45	1	2634	1	PNPLA7	9	140396175	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	401965	140396175	817256	565	11260										
EHMT1	79813	genome.wustl.edu	37	chr9	140707511	140707511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaagaacaaggaaggagagaCgcccctgcagtgtgcgagcc	14	10	0	2	rs371580823		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:140707511C>T	ENST00000460843.1	+	20	2948	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	974					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAAGGAGAGACGCCCCTGCAG	0.537																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	72	82	79		2921	5	0.9	9		79	0,8600		0,0,4300	no	missense	EHMT1	NM_024757.4	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	974/1299	140707511	1,13005	2203	4300	6503	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2921C>T	9.37:g.140707511C>T	ENSP00000417980:p.Thr974Met		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.T974M	ENST00000460843.1	37	c.2921	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696109	0.88830	2.27E-4	0.0	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.75154	-0.91	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.91920	3.255	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	D	0.90846	0.4727	10	0.56958	D	0.05	.	18.2827	0.90103	0.0:1.0:0.0:0.0	.	974	Q9H9B1	EHMT1_HUMAN	M	943;974	ENSP00000417980:T974M	ENSP00000360453:T943M	T	+	2	0	EHMT1	139827332	1.000000	0.71417	0.926000	0.36857	0.845000	0.48019	7.704000	0.84595	2.292000	0.77174	0.655000	0.94253	ACG	EHMT1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.537	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140707511	1	no_errors	ENST00000460843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140707511	C	T	140707511	3	4	74	1	0	0	0	0	1	0	0	0	4993	536	19	2	3048	2	EHMT1	9	140707511	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	311336	140707511	505920	566	11261										
GTPBP4	23560	genome.wustl.edu	37	chr10	1046733	1046733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcctgtatgtgatggatttGtctgagcagtgtgggcatgg	16	5	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:1046733G>A	ENST00000360803.4	+	7	853	c.771G>A	c.(769-771)ttG>ttA	p.L257L	GTPBP4_ENST00000538293.1_Silent_p.L141L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L210L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	257	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGATGGATTTGTCTGAGCAGT	0.552																																																	0													200	179	186					10																	1046733		2203	4300	6503	SO:0001819	synonymous_variant	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.771G>A	10.37:g.1046733G>A			B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.L257	ENST00000360803.4	37	c.771	CCDS31132.1	10																																																																																			GTPBP4	-	pfam_NOG1_Rossman_fold_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,tigrfam_Small_GTP-bd_dom		0.552	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	G	NM_012341		1046733	1	no_errors	ENST00000360803	ensembl	human	known	70_37	silent	SNP	0.997	A	A	1046733	G	A	1046733	2	1	74	1	0	0	0	0	0	0	0	1	6902	1368	48	4		4	GTPBP4	10	1046733	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09		1046733	134488014	567	11262										
UPF2	26019	genome.wustl.edu	37	chr10	12056181	12056181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccctttagaatgtagaatgCgcctataaacaaatgaaatc	6	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:12056181C>T	ENST00000356352.2	-	3	1621	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	UPF2_ENST00000397053.2_Missense_Mutation_p.R383H|UPF2_ENST00000357604.5_Missense_Mutation_p.R383H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	383	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATGTAGAATGCGCCTATAAAC	0.338																																																	0													76	71	73					10																	12056181		2202	4300	6502	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1148G>A	10.37:g.12056181C>T	ENSP00000348708:p.Arg383His		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R383H	ENST00000356352.2	37	c.1148	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442027	0.83993	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.47869	0.83;0.83;0.83	5.6	5.6	0.85130	MIF4G-like, type 3 (1);	0.058207	0.64402	D	0.000001	T	0.42921	0.1224	L	0.46819	1.47	0.80722	D	1	B;P	0.38729	0.36;0.644	B;B	0.30572	0.073;0.117	T	0.45833	-0.9234	10	0.56958	D	0.05	.	19.6194	0.95649	0.0:1.0:0.0:0.0	.	353;383	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	H	383;383;353;383;353	ENSP00000348708:R383H;ENSP00000350221:R383H;ENSP00000380244:R383H	ENSP00000313617:R353H	R	-	2	0	UPF2	12096187	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.818000	0.86416	2.628000	0.89032	0.446000	0.29264	CGC	UPF2	-	pfam_MIF4G-like_typ-3		0.338	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			12056181	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12056181	C	T	12056181	3	4	74	1	0	0	0	0	1	0	0	0	17035	768	27	2	2746	2	UPF2	10	12056181	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11009448	12056181	123478566	568	11263										
UCMA	221044	genome.wustl.edu	37	chr10	13275542	13275542	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctccagcatccttaccattGacctcatctctggacttggg	7	15	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:13275542G>C	ENST00000378681.3	-	3	288	c.216C>G	c.(214-216)gtC>gtG	p.V72V	UCMA_ENST00000463405.2_Silent_p.V50V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	72					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCTTACCATTGACCTCATCTC	0.582																																																	0													76	78	77					10																	13275542		2203	4300	6503	SO:0001819	synonymous_variant	221044			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.216C>G	10.37:g.13275542G>C				Silent	SNP	NULL	p.V72	ENST00000378681.3	37	c.216	CCDS31147.1	10																																																																																			UCMA	-	NULL		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2	G	NM_145314		13275542	-1	no_errors	ENST00000378681	ensembl	human	known	70_37	silent	SNP	0.927	C	C	13275542	G	C	13275542	2	2	74	1	0	0	0	0	0	0	0	1	16957	1277	45	1		1	UCMA	10	13275542	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1219361	13275542	122259205	569	11264										
BEND7	222389	genome.wustl.edu	37	chr10	13489309	13489309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccagtctttcatcactgtcCgcgatctctgctggttacaa	7	13	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:13489309C>T	ENST00000396900.2	-	8	1190	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Silent_p.A358A|BEND7_ENST00000396898.2_Silent_p.A410A|BEND7_ENST00000341083.3_Silent_p.A346A			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CATCACTGTCCGCGATCTCTG	0.388																																																	0													190	163	172					10																	13489309		2203	4300	6503	SO:0001819	synonymous_variant	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1191G>A	10.37:g.13489309C>T			Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	pfam_BEN_domain	p.A397	ENST00000396900.2	37	c.1191		10																																																																																			BEND7	-	NULL		0.388	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		C	NM_152751		13489309	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	silent	SNP	0.978	T	T	13489309	C	T	13489309	2	4	74	1	0	0	0	0	0	0	0	1	1404	639	23	2		2	BEND7	10	13489309	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	213767	13489309	122045438	570	11265										
DCLRE1C	64421	genome.wustl.edu	37	chr10	14961745	14961745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catttttcttacctgagtctCggtgaactgttctagctctc	7	11	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:14961745C>T	ENST00000378278.2	-	13	1185	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.R383Q|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R36Q|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R268Q|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R268Q|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R268Q|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R263Q			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	383					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACCTGAGTCTCGGTGAACTGT	0.507								Non-homologous end-joining																																									0													146	138	141					10																	14961745		2203	4300	6503	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1148G>A	10.37:g.14961745C>T	ENSP00000367527:p.Arg383Gln		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.R383Q	ENST00000378278.2	37	c.1148	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259253	0.39995	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.91;-0.35	5.61	-10.2	0.00374	.	1.608970	0.02810	N	0.124183	T	0.49012	0.1532	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.34625	-0.9821	10	0.13853	T	0.58	.	2.3929	0.04383	0.1665:0.2183:0.1163:0.4989	.	383;268;383	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	Q	383;263;268;268;268;263;263;263;383;263;36	ENSP00000367538:R383Q;ENSP00000400529:R263Q;ENSP00000367492:R268Q;ENSP00000350349:R268Q;ENSP00000367496:R268Q;ENSP00000380030:R263Q;ENSP00000367503:R263Q;ENSP00000367502:R263Q;ENSP00000367527:R383Q;ENSP00000367506:R263Q	ENSP00000350349:R268Q	R	-	2	0	DCLRE1C	15001751	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.581000	0.05820	-1.622000	0.01560	-0.982000	0.02568	CGA	DCLRE1C	-	NULL		0.507	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	C	NM_022487		14961745	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	missense	SNP	0.000	T	T	14961745	C	T	14961745	3	4	74	1	0	0	0	0	1	0	0	0	4301	884	31	1	938	1	DCLRE1C	10	14961745	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1472436	14961745	120573002	571	11266										
FAM171A1	221061	genome.wustl.edu	37	chr10	15296873	15296873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgaacgcgaggctgtggccGggcacctgcagagattaacc	14	11	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:15296873G>A	ENST00000378116.4	-	4	430	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	142						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCTGTGGCCGGGCACCTGCA	0.552																																																	0													41	41	41					10																	15296873		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.424C>T	10.37:g.15296873G>A	ENSP00000367356:p.Arg142Trp		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.R142W	ENST00000378116.4	37	c.424	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809870	0.70797	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.44083	0.93	5.11	4.2	0.49525	.	0.143577	0.43919	D	0.000509	T	0.62134	0.2403	M	0.72894	2.215	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.66540	-0.5898	10	0.87932	D	0	-33.8386	13.0656	0.59032	0.0:0.0:0.7074:0.2926	.	142	Q5VUB5	F1711_HUMAN	W	142;143	ENSP00000367356:R142W	ENSP00000367356:R142W	R	-	1	2	FAM171A1	15336879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.934000	0.48956	1.276000	0.44395	0.650000	0.86243	CGG	FAM171A1	-	pfam_Uncharacterised_FAM171		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15296873	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15296873	G	A	15296873	3	1	74	1	0	0	0	0	1	0	0	0	5505	1115	39	2	2268	2	FAM171A1	10	15296873	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	335128	15296873	120237874	572	11267										
CUBN	8029	genome.wustl.edu	37	chr10	17026127	17026127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtgactgcttgccatgacGcattgaagcctctcccattt	8	13	1	3	rs201587209		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:17026127G>A	ENST00000377833.4	-	30	4567	c.4502C>T	c.(4501-4503)gCg>gTg	p.A1501V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1501	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCATGACGCATTGAAGCC	0.473																																																	0													177	162	167					10																	17026127		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4502C>T	10.37:g.17026127G>A	ENSP00000367064:p.Ala1501Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.A1501V	ENST00000377833.4	37	c.4502	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367097	0.41902	.	.	ENSG00000107611	ENST00000377833;ENST00000438254	T;T	0.39056	1.37;1.1	5.96	-3.74	0.04385	CUB (5);	0.503596	0.16513	N	0.211170	T	0.32071	0.0817	M	0.71296	2.17	0.53688	D	0.99997	P	0.35077	0.483	B	0.29176	0.099	T	0.17592	-1.0364	10	0.19590	T	0.45	.	9.9422	0.41587	0.1844:0.0937:0.7219:0.0	.	1501	O60494	CUBN_HUMAN	V	1501;23	ENSP00000367064:A1501V;ENSP00000391830:A23V	ENSP00000367064:A1501V	A	-	2	0	CUBN	17066133	1.000000	0.71417	0.018000	0.16275	0.365000	0.29674	2.366000	0.44204	-0.963000	0.03600	-0.136000	0.14681	GCG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		17026127	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.801	A	A	17026127	G	A	17026127	3	1	74	1	0	0	0	0	1	0	0	0	4056	1087	38	2	6521	2	CUBN	10	17026127	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1729254	17026127	118508620	573	11268										
NEBL	10529	genome.wustl.edu	37	chr10	21115385	21115385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagaacttactgaactaatAttctgctgatttttcttcac	5	8	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:21115385A>G	ENST00000377122.4	-	18	2256	c.1860T>C	c.(1858-1860)aaT>aaC	p.N620N	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	620					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGAACTAATATTCTGCTGAT	0.328																																																	0													150	165	160					10																	21115385		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1860T>C	10.37:g.21115385A>G			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.N620	ENST00000377122.4	37	c.1860	CCDS7134.1	10																																																																																			NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.328	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	A	NM_006393		21115385	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	silent	SNP	1.000	G	G	21115385	A	G	21115385	2	3	74	1	0	0	0	0	0	0	0	1	10327	446	16	5		5	NEBL	10	21115385	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	4089258	21115385	114419362	574	11269										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24909833	24909833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctggagcctgcaggctgatGaattagatgagtggtgggaa	16	5	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:24909833G>A	ENST00000396432.2	-	9	1477	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H118Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	330					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCAGGCTGATGAATTAGATGA	0.433																																																	0													139	140	140					10																	24909833		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.991C>T	10.37:g.24909833G>A	ENSP00000379709:p.His331Tyr		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.H331Y	ENST00000396432.2	37	c.991	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660062	0.47572	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.46451	2.83;2.91;0.87;0.88	5.35	5.35	0.76521	.	0.342027	0.31760	N	0.007118	T	0.50871	0.1641	L	0.42245	1.32	0.32700	N	0.512962	D;P	0.53619	0.961;0.934	P;B	0.52909	0.713;0.34	T	0.58498	-0.7626	10	0.49607	T	0.09	.	19.4375	0.94801	0.0:0.0:1.0:0.0	.	321;330	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	331;320;118;321;331;166	ENSP00000379709:H331Y;ENSP00000365604:H118Y;ENSP00000365592:H321Y;ENSP00000405018:H331Y	ENSP00000365604:H118Y	H	-	1	0	ARHGAP21	24949839	1.000000	0.71417	0.604000	0.28916	0.566000	0.35808	5.241000	0.65384	2.686000	0.91538	0.650000	0.86243	CAT	ARHGAP21	-	NULL		0.433	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	G	NM_020824		24909833	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	0.986	A	A	24909833	G	A	24909833	3	1	74	1	0	0	0	0	1	0	0	0	871	1290	45	1	4957	1	ARHGAP21	10	24909833	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3794448	24909833	110624914	575	11270										
ZNF33A	7581	genome.wustl.edu	37	chr10	38344302	38344302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaaccctatcaatgtaatgCgtgtgggaaaactttttgcc	9	8	1	0	rs144855227		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:38344302C>T	ENST00000458705.2	+	5	1405	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.A423V|ZNF33A_ENST00000307441.9_Missense_Mutation_p.A416V|ZNF33A_ENST00000374618.3_Missense_Mutation_p.A417V			Q06730	ZN33A_HUMAN	zinc finger protein 33A	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAATGTAATGCGTGTGGGAAA	0.423													C|||	1	0.000199681	0	0	5008	,	,		20060	0		0	False		,,,				2504	0.001																0								C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	100	103	102		1250,1247	-1.3	0.6	10	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	417/812,416/811	38344302	2,13004	2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1247C>T	10.37:g.38344302C>T	ENSP00000387713:p.Ala416Val		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A423V	ENST00000458705.2	37	c.1268	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	C	3.800	-0.041902	0.07452	2.27E-4	1.16E-4	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	2.34	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.461581	0.16141	N	0.227708	T	0.03095	0.0091	N	0.00368	-1.59	0.09310	N	1	B;B;B	0.19331	0.035;0.027;0.012	B;B;B	0.15870	0.012;0.014;0.004	T	0.37079	-0.9721	10	0.59425	D	0.04	.	2.3451	0.04270	0.3538:0.3295:0.0:0.3167	.	423;416;417	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	V	417;423;416;416	ENSP00000363747:A417V;ENSP00000402467:A423V;ENSP00000387713:A416V;ENSP00000304268:A416V	ENSP00000304268:A416V	A	+	2	0	ZNF33A	38384308	0.000000	0.05858	0.635000	0.29338	0.239000	0.25481	-0.746000	0.04829	-0.073000	0.12842	-0.459000	0.05422	GCG	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	C	NM_006974		38344302	1	no_errors	ENST00000432900	ensembl	human	known	70_37	missense	SNP	0.112	T	T	38344302	C	T	38344302	3	4	74	1	0	0	0	0	1	0	0	0	17884	768	27	2	1264	2	ZNF33A	10	38344302	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	13434469	38344302	97190445	576	11271										
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43678974	43678974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaggcatacaggacaaacaGtgaagctgttggttgaaatc	11	7	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:43678974G>T	ENST00000374466.3	+	8	1948	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	538					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGACAAACAGTGAAGCTGTT	0.428																																																	0													89	84	86					10																	43678974		2203	4300	6503	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1613G>T	10.37:g.43678974G>T	ENSP00000363590:p.Ser538Ile		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.S538I	ENST00000374466.3	37	c.1613	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947650	0.53186	.	.	ENSG00000169826	ENST00000374466	T	0.26518	1.73	5.87	4.97	0.65823	.	1.977970	0.01711	N	0.027721	T	0.24774	0.0601	N	0.22421	0.69	0.80722	D	1	B	0.18741	0.03	B	0.15484	0.013	T	0.06607	-1.0817	10	0.72032	D	0.01	-6.135	11.3846	0.49778	0.1382:0.0:0.8618:0.0	.	538	Q8N6G5	CGAT2_HUMAN	I	538	ENSP00000363590:S538I	ENSP00000363590:S538I	S	+	2	0	CSGALNACT2	42998980	1.000000	0.71417	0.083000	0.20561	0.880000	0.50808	4.099000	0.57755	1.627000	0.50400	0.655000	0.94253	AGT	CSGALNACT2	-	NULL		0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	G	NM_018590		43678974	1	no_errors	ENST00000374466	ensembl	human	known	70_37	missense	SNP	0.956	T	T	43678974	G	T	43678974	3	4	74	1	0	0	0	0	1	0	0	0	3944	1029	36	4	1639	4	CSGALNACT2	10	43678974	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5334672	43678974	91855773	577	11272										
RBP3	5949	genome.wustl.edu	37	chr10	48388181	48388181	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccttgcctgtggtggcactCatggccatctgggtgggcat	15	11	2	0	rs368139421		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:48388181C>G	ENST00000224600.4	-	1	2810	c.2697G>C	c.(2695-2697)atG>atC	p.M899I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	899	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTGGCACTCATGGCCATCT	0.632																																																	0													56	51	53					10																	48388181		2203	4300	6503	SO:0001583	missense	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2697G>C	10.37:g.48388181C>G	ENSP00000224600:p.Met899Ile		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.M899I	ENST00000224600.4	37	c.2697	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556605	0.27827	.	.	ENSG00000107618	ENST00000224600	T	0.61742	0.08	5.67	2.61	0.31194	Interphotoreceptor retinol-binding (2);	0.570321	0.16807	N	0.198701	T	0.17023	0.0409	N	0.00054	-2.38	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	10	0.45353	T	0.12	-8.1371	11.2778	0.49176	0.1094:0.492:0.3986:0.0	.	899	P10745	RET3_HUMAN	I	899	ENSP00000224600:M899I	ENSP00000224600:M899I	M	-	3	0	RBP3	48008187	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	0.890000	0.28295	1.378000	0.46305	0.655000	0.94253	ATG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	C	NM_002900		48388181	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	missense	SNP	0.988	G	G	48388181	C	G	48388181	3	3	74	1	0	0	0	0	1	0	0	0	13187	826	29	1	1062	1	RBP3	10	48388181	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4709207	48388181	87146566	578	11273										
UBE2D1	7321	genome.wustl.edu	37	chr10	60127703	60127703	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttttattgtccatatgttctCtactttgtgatcctaatcca	4	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:60127703C>G	ENST00000373910.4	+	6	552	c.325C>G	c.(325-327)Cta>Gta	p.L109V		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	109					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CATATGTTCTCTACTTTGTGA	0.294																																																	0													214	190	198					10																	60127703		2203	4299	6502	SO:0001583	missense	7321			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.325C>G	10.37:g.60127703C>G	ENSP00000363019:p.Leu109Val		A6NLF6|A8K786	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L109V	ENST00000373910.4	37	c.325	CCDS7252.1	10	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325332	0.60743	.	.	ENSG00000072401	ENST00000373910	T	0.58940	0.3	5.72	4.82	0.62117	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	H	0.96111	3.77	0.54753	D	0.999988	P	0.51933	0.949	P	0.50049	0.629	T	0.80679	-0.1275	10	0.87932	D	0	.	8.9712	0.35908	0.0:0.8325:0.0:0.1675	.	109	P51668	UB2D1_HUMAN	V	109	ENSP00000363019:L109V	ENSP00000363019:L109V	L	+	1	2	UBE2D1	59797709	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.384000	0.44362	1.419000	0.47118	0.561000	0.74099	CTA	UBE2D1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.294	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D1	HGNC	protein_coding	OTTHUMT00000048143.2	C	NM_003338		60127703	1	no_errors	ENST00000373910	ensembl	human	known	70_37	missense	SNP	0.994	G	G	60127703	C	G	60127703	3	3	74	1	0	0	0	0	1	0	0	0	16879	912	32	1	347	1	UBE2D1	10	60127703	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11739522	60127703	75407044	579	11274										
SPOCK2	9806	genome.wustl.edu	37	chr10	73828011	73828011	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggcaggggccctcgcatcGcaccgccagctgcttgctgc	15	16	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:73828011G>A	ENST00000373109.2	-	6	967	c.523C>T	c.(523-525)Cga>Tga	p.R175*	SPOCK2_ENST00000536168.1_Nonsense_Mutation_p.R175*|SPOCK2_ENST00000317376.4_Nonsense_Mutation_p.R175*|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	175	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTCGCATCGCACCGCCAGC	0.672																																																	0													25	22	23					10																	73828011		2202	4300	6502	SO:0001587	stop_gained	9806			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.523C>T	10.37:g.73828011G>A	ENSP00000362201:p.Arg175*		C9J767|Q6UW87	Nonsense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.R175*	ENST00000373109.2	37	c.523	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.868649	0.97897	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	.	.	.	5.33	2.94	0.34122	.	0.204155	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.5375	0.56150	0.0:0.0:0.4063:0.5937	.	.	.	.	X	172;175;175	.	ENSP00000321108:R175X	R	-	1	2	SPOCK2	73498017	1.000000	0.71417	0.967000	0.41034	0.313000	0.28021	2.030000	0.41108	0.317000	0.23160	-0.723000	0.03601	CGA	SPOCK2	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal		0.672	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	G			73828011	-1	no_errors	ENST00000317376	ensembl	human	known	70_37	nonsense	SNP	0.970	A	A	73828011	G	A	73828011	4	1	74	1	0	0	0	0	0	1	0	0	15110	1095	38	2	775	2	SPOCK2	10	73828011	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	13700308	73828011	61706736	580	11275										
VCL	7414	genome.wustl.edu	37	chr10	75834509	75834510	+	Frame_Shift_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatttttacagctatgaagaINStttttgtaacaactaaaaac							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:75834509_75834510insT	ENST00000211998.4	+	6	725_726	c.631_632insT	c.(631-633)attfs	p.I211fs	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Frame_Shift_Ins_p.I211fs	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	211	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCTATGAAGATTTTTGTAACA	0.272																																																	0																																										SO:0001589	frameshift_variant	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.636dupT	10.37:g.75834514_75834514dupT	ENSP00000211998:p.Ile211fs		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Frame_Shift_Ins	INS	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.V213fs	ENST00000211998.4	37	c.631_632	CCDS7341.1	10																																																																																			VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.272	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	NM_003373, NM_014000		75834510	1	no_errors	ENST00000211998	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	75834510	-	T	75834509	7	5	74	1	0	1	1	0	0	0	0	0	17170	333	12	0	653	0	VCL	10	75834509	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	2006498	75834509	59700238	581	11276										
FAM22D	728130	genome.wustl.edu	37	chr10	89118101	89118101	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggtgagccaggtcactctCtgggtcttacccttggcttt	11	12	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:89118101C>G	ENST00000381697.2	+	1	677	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	LINC00863_ENST00000439559.2_lincRNA|NUTM2D_ENST00000412718.1_Missense_Mutation_p.L27V			Q5VT03	NTM2D_HUMAN	NUT family member 2D	27																	AGGTCACTCTCTGGGTCTTAC	0.507																																																	0													187	224	212					10																	89118101		1943	4164	6107	SO:0001583	missense	728130					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"family with sequence similarity 22, member D"	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.79C>G	10.37:g.89118101C>G	ENSP00000371116:p.Leu27Val		A6NGV9	Missense_Mutation	SNP	NULL	p.L27V	ENST00000381697.2	37	c.79		10	.	.	.	.	.	.	.	.	.	.	C	6.357	0.433982	0.12045	.	.	ENSG00000214562	ENST00000330762;ENST00000381697;ENST00000412718	T;T	0.25749	2.6;1.78	0.86	0.86	0.19042	.	.	.	.	.	T	0.12518	0.0304	.	.	.	0.09310	N	1	B;B	0.33919	0.432;0.171	B;B	0.25884	0.064;0.014	T	0.19031	-1.0318	8	0.30854	T	0.27	.	5.11	0.14804	0.0:1.0:0.0:0.0	.	27;27	Q5VT03-2;Q5VT03	.;FA22D_HUMAN	V	98;27;27	ENSP00000371116:L27V;ENSP00000396080:L27V	ENSP00000328439:L98V	L	+	1	2	FAM22D	89108081	0.092000	0.21681	0.011000	0.14972	0.044000	0.14063	0.922000	0.28734	0.769000	0.33313	0.175000	0.17021	CTG	FAM22D	-	NULL		0.507	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	FAM22D	HGNC	protein_coding	OTTHUMT00000470142.1	C	NR_075100		89118101	1	no_errors	ENST00000381697	ensembl	human	known	70_37	missense	SNP	0.014	G	G	89118101	C	G	89118101	3	3	74	1	0	0	0	0	1	0	0	0	5559	912	32	1	81	1	FAM22D	10	89118101	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	13283592	89118101	46416646	582	11277										
PLCE1	51196	genome.wustl.edu	37	chr10	96058365	96058365	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgcatcgactcttccaacccGaaccccctcatgttctggct	6	18	3	0	rs376511806		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:96058365G>A	ENST00000371380.3	+	23	5632	c.5397G>A	c.(5395-5397)ccG>ccA	p.P1799P	PLCE1_ENST00000371375.1_Silent_p.P1491P|PLCE1_ENST00000371385.3_Silent_p.P1491P|PLCE1_ENST00000260766.3_Silent_p.P1799P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1799	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTCCAACCCGAACCCCCTCA	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		16641	0		0	False		,,,				2504	0																0								G	,	1,4091		0,1,2045	119	118	118		4473,5397	1.9	1	10		118	1,8399		0,1,4199	no	coding-synonymous,coding-synonymous	PLCE1	NM_001165979.1,NM_016341.3	,	0,2,6244	AA,AG,GG		0.0119,0.0244,0.016	,	1491/1995,1799/2303	96058365	2,12490	2046	4200	6246	SO:0001819	synonymous_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5397G>A	10.37:g.96058365G>A			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P1799	ENST00000371380.3	37	c.5397	CCDS41552.1	10																																																																																			PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C		0.557	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96058365	1	no_errors	ENST00000371380	ensembl	human	known	70_37	silent	SNP	0.997	A	A	96058365	G	A	96058365	2	1	74	1	0	0	0	0	0	0	0	1	12058	1045	37	1		1	PLCE1	10	96058365	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6940264	96058365	39476382	583	11278										
CYP2C18	1562	genome.wustl.edu	37	chr10	96447906	96447906	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttttcagcaatggaaagaGatggaaggagatccggcgtt	13	7	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:96447906G>C	ENST00000285979.6	+	3	555	c.356G>C	c.(355-357)aGa>aCa	p.R119T	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R119T	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	119					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	AATGGAAAGAGATGGAAGGAG	0.522																																																	0													104	94	98					10																	96447906		2203	4300	6503	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.356G>C	10.37:g.96447906G>C	ENSP00000285979:p.Arg119Thr		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R119T	ENST00000285979.6	37	c.356	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	7.238	0.600723	0.13939	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69306	-0.39;-0.39	4.63	-9.25	0.00666	.	0.429079	0.22740	U	0.056218	T	0.35451	0.0932	L	0.28054	0.825	0.09310	N	1	B;B	0.29886	0.008;0.26	B;B	0.17979	0.008;0.02	T	0.10730	-1.0617	10	0.30078	T	0.28	.	4.8187	0.13379	0.2222:0.4683:0.2195:0.0901	.	119;119	Q4VAT5;P33260	.;CP2CI_HUMAN	T	119	ENSP00000341293:R119T;ENSP00000285979:R119T	ENSP00000285979:R119T	R	+	2	0	CYP2C18	96437896	0.000000	0.05858	0.020000	0.16555	0.736000	0.42039	-2.005000	0.01460	-1.320000	0.02283	0.306000	0.20318	AGA	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.522	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	G	NM_000772		96447906	1	no_errors	ENST00000285979	ensembl	human	known	70_37	missense	SNP	0.000	C	C	96447906	G	C	96447906	3	2	74	1	0	0	0	0	1	0	0	0	4170	942	33	1	366	1	CYP2C18	10	96447906	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	389541	96447906	39086841	584	11279										
PIK3AP1	118788	genome.wustl.edu	37	chr10	98469594	98469594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaggcttaggtcctctgccgAgaaggaggcctcggggccca	15	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:98469594A>C	ENST00000339364.5	-	2	279	c.160T>G	c.(160-162)Tcg>Gcg	p.S54A		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	54	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTCTGCCGAGAAGGAGGCC	0.637																																																	0													49	48	48					10																	98469594		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.160T>G	10.37:g.98469594A>C	ENSP00000339826:p.Ser54Ala		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S54A	ENST00000339364.5	37	c.160	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	A	2.755	-0.259251	0.05791	.	.	ENSG00000155629	ENST00000339364	T	0.09255	3.0	5.15	2.71	0.32032	.	0.422095	0.24022	N	0.042264	T	0.08313	0.0207	L	0.52573	1.65	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23726	-1.0180	10	0.30854	T	0.27	-9.4751	2.7067	0.05164	0.6167:0.1514:0.0858:0.1461	.	54	Q6ZUJ8	BCAP_HUMAN	A	54	ENSP00000339826:S54A	ENSP00000339826:S54A	S	-	1	0	PIK3AP1	98459584	0.978000	0.34361	0.952000	0.39060	0.031000	0.12232	0.532000	0.23067	2.069000	0.61940	0.533000	0.62120	TCG	PIK3AP1	-	NULL		0.637	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	A	NM_152309		98469594	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	missense	SNP	0.954	C	C	98469594	A	C	98469594	3	2	74	1	0	0	0	0	1	0	0	0	11932	304	11	5	2321	5	PIK3AP1	10	98469594	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2021688	98469594	37065153	585	11280										
CHUK	1147	genome.wustl.edu	37	chr10	101953149	101953149	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgaggggttactgcaccttCtagactggatcctacaaggg	12	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:101953149C>G	ENST00000370397.7	-	19	2100	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	RP11-316M21.7_ENST00000443919.1_RNA|CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	672					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ACTGCACCTTCTAGACTGGAT	0.473																																					Ovarian(159;52 1904 10536 35305 37148)												0													109	94	99					10																	101953149		2203	4300	6503	SO:0001583	missense	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2014G>C	10.37:g.101953149C>G	ENSP00000359424:p.Glu672Gln		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E672Q	ENST00000370397.7	37	c.2014	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447631	0.43429	.	.	ENSG00000213341	ENST00000370397	T	0.73363	-0.74	5.84	5.84	0.93424	.	0.050850	0.85682	D	0.000000	T	0.73289	0.3568	M	0.61703	1.905	0.53005	D	0.999961	B	0.23442	0.085	B	0.17098	0.017	T	0.69431	-0.5147	10	0.49607	T	0.09	-11.4409	17.6473	0.88152	0.0:1.0:0.0:0.0	.	672	O15111	IKKA_HUMAN	Q	672	ENSP00000359424:E672Q	ENSP00000359424:E672Q	E	-	1	0	CHUK	101943139	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.946000	0.70234	2.764000	0.94973	0.650000	0.86243	GAA	CHUK	-	NULL		0.473	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	C	NM_001278		101953149	-1	no_errors	ENST00000370397	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101953149	C	G	101953149	3	3	74	1	0	0	0	0	1	0	0	0	3421	922	32	1	235	1	CHUK	10	101953149	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3483555	101953149	33581598	586	11281										
SLC18A2	6571	genome.wustl.edu	37	chr10	119015165	119015165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acccgtacatcctcattgctGcaggtggggctctgtgggtc	13	12	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:119015165G>A	ENST00000298472.5	+	9	1035	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	298					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTCATTGCTGCAGGTGGGGC	0.587																																																	0													44	42	43					10																	119015165		2203	4300	6503	SO:0001583	missense	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.892G>A	10.37:g.119015165G>A	ENSP00000298472:p.Ala298Thr		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A298T	ENST00000298472.5	37	c.892	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428993	0.83667	.	.	ENSG00000165646	ENST00000298472	T	0.58210	0.35	5.06	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.78206	-0.2294	10	0.52906	T	0.07	-8.254	15.0845	0.72142	0.0:0.0:0.8569:0.1431	.	298	Q05940	VMAT2_HUMAN	T	298	ENSP00000298472:A298T	ENSP00000298472:A298T	A	+	1	0	SLC18A2	119005155	1.000000	0.71417	0.907000	0.35723	0.917000	0.54804	9.675000	0.98638	1.232000	0.43678	0.557000	0.71058	GCA	SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.587	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	G	NM_003054		119015165	1	no_errors	ENST00000298472	ensembl	human	known	70_37	missense	SNP	0.999	A	A	119015165	G	A	119015165	3	1	74	1	0	0	0	0	1	0	0	0	14456	1319	46	4	922	4	SLC18A2	10	119015165	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	17062016	119015165	16519582	587	11282										
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119800044	119800044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctcacccctgtttttgattCgttttccttgtttggattct	6	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:119800044C>T	ENST00000355624.3	-	2	825	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R129Q|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	129					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GTTTTTGATTCGTTTTCCTTG	0.338																																																	0													87	68	74					10																	119800044		2203	4299	6502	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.386G>A	10.37:g.119800044C>T	ENSP00000347839:p.Arg129Gln		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R129Q	ENST00000355624.3	37	c.386	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679479	0.47886	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.71461	-0.57;-0.57	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.246532	0.46758	D	0.000279	T	0.66703	0.2816	L	0.48362	1.52	0.50171	D	0.999859	B;B	0.30741	0.01;0.293	B;B	0.24848	0.004;0.056	T	0.67741	-0.5592	10	0.72032	D	0.01	-12.7447	19.5154	0.95162	0.0:1.0:0.0:0.0	.	129;129	Q3I768;Q7L804	.;RFIP2_HUMAN	Q	129	ENSP00000347839:R129Q;ENSP00000358200:R129Q	ENSP00000347839:R129Q	R	-	2	0	RAB11FIP2	119790034	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.613000	0.61176	2.685000	0.91497	0.655000	0.94253	CGA	RAB11FIP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.338	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119800044	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119800044	C	T	119800044	3	4	74	1	0	0	0	0	1	0	0	0	12924	884	31	1	1168	1	RAB11FIP2	10	119800044	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	784879	119800044	15734703	588	11283										
C10orf46	143384	genome.wustl.edu	37	chr10	120460911	120460911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gttaagcttggtttcgatgtAaaacttattctgaaaaataa	7	4	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:120460911A>G	ENST00000369151.3	-	5	1186	c.703T>C	c.(703-705)Tac>Cac	p.Y235H	CACUL1_ENST00000340214.4_Missense_Mutation_p.Y235H|CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	235					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										GTTTCGATGTAAAACTTATTC	0.299																																																	0													92	82	85					10																	120460911		1809	4061	5870	SO:0001583	missense	143384			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.703T>C	10.37:g.120460911A>G	ENSP00000358147:p.Tyr235His		Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.Y235H	ENST00000369151.3	37	c.703	CCDS41570.1	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640427	0.87859	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151;ENST00000340214	T;T	0.78003	-1.14;-1.14	5.6	5.6	0.85130	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88316	0.2959	10	0.87932	D	0	-13.7549	16.0618	0.80841	1.0:0.0:0.0:0.0	.	235	Q86Y37	CJ046_HUMAN	H	46;112;235;235	ENSP00000358147:Y235H;ENSP00000342487:Y235H	ENSP00000342487:Y235H	Y	-	1	0	C10orf46	120450901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.252000	0.74401	0.533000	0.62120	TAC	CACUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.299	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	A	NM_153810		120460911	-1	no_errors	ENST00000369151	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120460911	A	G	120460911	3	3	74	1	0	0	0	0	1	0	0	0	1608	362	13	5	426	5	C10orf46	10	120460911	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	660867	120460911	15073836	589	11284										
OAT	4942	genome.wustl.edu	37	chr10	126092460	126092460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaattggttctaccatgaaCgcagccacatttggatcctg	9	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:126092460C>T	ENST00000368845.5	-	6	770	c.678G>A	c.(676-678)gcG>gcA	p.A226A	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Silent_p.A88A	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	226			A -> V (in HOGA). {ECO:0000269|PubMed:7887415}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CTACCATGAACGCAGCCACAT	0.468											OREG0020605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126	101	110					10																	126092460		2203	4300	6503	SO:0001819	synonymous_variant	4942			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.678G>A	10.37:g.126092460C>T		1547	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans	p.A226	ENST00000368845.5	37	c.678	CCDS7639.1	10																																																																																			OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans		0.468	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	C	NM_000274		126092460	-1	no_errors	ENST00000368845	ensembl	human	known	70_37	silent	SNP	0.425	T	T	126092460	C	T	126092460	2	4	74	1	0	0	0	0	0	0	0	1	10827	523	19	2		2	OAT	10	126092460	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5631549	126092460	9442287	590	11285										
JAKMIP3	282973	genome.wustl.edu	37	chr10	133961495	133961495	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagaggctcggctcagacacGaggtgcaggacgccagagac	15	11	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:133961495G>C	ENST00000298622.4	+	13	1927	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	597						Golgi apparatus (GO:0005794)		p.E597K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTCAGACACGAGGTGCAGGA	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											122	97	106					10																	133961495		2201	4295	6496	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1789G>C	10.37:g.133961495G>C	ENSP00000298622:p.Glu597Gln		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E597Q	ENST00000298622.4	37	c.1789	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740969	0.49151	.	.	ENSG00000188385	ENST00000298622	T	0.30182	1.54	4.39	4.39	0.52855	.	.	.	.	.	T	0.45276	0.1334	L	0.45352	1.415	0.40647	D	0.982	D;P	0.71674	0.998;0.933	D;P	0.63703	0.917;0.755	T	0.37291	-0.9712	9	0.34782	T	0.22	.	16.9566	0.86261	0.0:0.0:1.0:0.0	.	34;597	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	Q	597	ENSP00000298622:E597Q	ENSP00000298622:E597Q	E	+	1	0	JAKMIP3	133811485	1.000000	0.71417	0.932000	0.37286	0.074000	0.17049	8.894000	0.92506	1.999000	0.58509	0.556000	0.70494	GAG	JAKMIP3	-	NULL		0.552	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133961495	1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133961495	G	C	133961495	3	2	74	1	0	0	0	0	1	0	0	0	7962	1059	37	1	1839	1	JAKMIP3	10	133961495	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7869035	133961495	1573252	591	11286										
C10orf93	54777	genome.wustl.edu	37	chr10	134754547	134754547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccttcatgtactcagtcacGcaattttcaaattcctccta	4	13	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:134754547G>A	ENST00000368586.5	-	4	424	c.324C>T	c.(322-324)tgC>tgT	p.C108C	RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368585.3_Silent_p.C108C|TTC40_ENST00000368582.2_Silent_p.C108C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACTCAGTCACGCAATTTTCAA	0.483											OREG0020643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													154	143	147					10																	134754547		2203	4300	6503	SO:0001819	synonymous_variant	54777																														ENST00000368586.5:c.324C>T	10.37:g.134754547G>A		1613		Silent	SNP	NULL	p.C108	ENST00000368586.5	37	c.324	CCDS58101.1	10																																																																																			TTC40	-	NULL		0.483	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	G			134754547	-1	no_errors	ENST00000368582	ensembl	human	known	70_37	silent	SNP	0.016	A	A	134754547	G	A	134754547	2	1	74	1	0	0	0	0	0	0	0	1	1629	1079	38	2		2	C10orf93	10	134754547	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	793052	134754547	780200	592	11287										
ATHL1	80162	genome.wustl.edu	37	chr11	290594	290594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagggtcctgacttccaggGagcccggtaaggagggggct	17	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:290594G>A	ENST00000409548.2	+	3	579	c.464G>A	c.(463-465)gGa>gAa	p.G155E	ATHL1_ENST00000409479.1_Missense_Mutation_p.G155E|ATHL1_ENST00000409655.1_5'UTR|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	155					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACTTCCAGGGAGCCCGGTAA	0.662																																																	0													16	22	20					11																	290594		692	1591	2283	SO:0001583	missense	80162			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.464G>A	11.37:g.290594G>A	ENSP00000387185:p.Gly155Glu		Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.G155E	ENST00000409548.2	37	c.464	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383214	0.82792	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	T	0.65780	0.2724	M	0.68952	2.095	0.58432	D	0.999992	D;P	0.62365	0.991;0.656	P;P	0.57152	0.814;0.459	T	0.63323	-0.6663	8	0.17832	T	0.49	.	13.5877	0.61942	0.0:0.0:1.0:0.0	.	155;155	Q32M88;E7EMA9	ATHL1_HUMAN;.	E	155	.	ENSP00000387099:G155E	G	+	2	0	ATHL1	280594	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	4.622000	0.61240	1.918000	0.55548	0.549000	0.68633	GGA	ATHL1	-	NULL		0.662	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	G	NM_025092		290594	1	no_errors	ENST00000409548	ensembl	human	known	70_37	missense	SNP	1.000	A	A	290594	G	A	290594	3	1	74	1	0	0	0	0	1	0	0	0	1105	1174	41	1	470	1	ATHL1	11	290594	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09		290594	134715922	593	11288										
PHRF1	57661	genome.wustl.edu	37	chr11	608302	608302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaggaggatggggcgtcttGcagcaccttctttggctctg	15	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:608302G>A	ENST00000264555.5	+	14	2974	c.2846G>A	c.(2845-2847)tGc>tAc	p.C949Y	PHRF1_ENST00000416188.2_Missense_Mutation_p.C948Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C947Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C945Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	949					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGGCGTCTTGCAGCACCTTC	0.692																																																	0													17	23	21					11																	608302		2005	4152	6157	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2846G>A	11.37:g.608302G>A	ENSP00000264555:p.Cys949Tyr		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C949Y	ENST00000264555.5	37	c.2846		11	.	.	.	.	.	.	.	.	.	.	G	2.013	-0.426498	0.04701	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.35	-4.0	0.04057	.	1.086070	0.07265	N	0.868173	T	0.59252	0.2180	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.29508	0.159;0.246;0.246;0.159	B;B;B;B	0.24701	0.025;0.055;0.055;0.025	T	0.42865	-0.9426	10	0.38643	T	0.18	-0.0384	6.6522	0.22969	0.3557:0.3328:0.3116:0.0	.	945;947;948;949	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	949;947;948;945	ENSP00000264555:C949Y;ENSP00000388589:C947Y;ENSP00000410626:C948Y;ENSP00000431870:C945Y	ENSP00000264555:C949Y	C	+	2	0	PHRF1	598302	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.026000	0.12392	-1.215000	0.02610	-0.266000	0.10368	TGC	PHRF1	-	NULL		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	G	NM_020901		608302	1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	0.000	A	A	608302	G	A	608302	3	1	74	1	0	0	0	0	1	0	0	0	11885	1319	46	4	2893	4	PHRF1	11	608302	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	317708	608302	134398214	594	11289										
IRF7	3665	genome.wustl.edu	37	chr11	613210	613210	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caagggcctcactgaccttgGaagaagactctgaagtcgaa	11	10	2	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:613210G>A	ENST00000397574.2	-	9	1602	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IRF7_ENST00000348655.6_Silent_p.F382F|IRF7_ENST00000330243.5_Silent_p.F424F|IRF7_ENST00000397566.1_Silent_p.F424F|IRF7_ENST00000397570.1_Silent_p.F382F|IRF7_ENST00000525445.1_Silent_p.F305F|IRF7_ENST00000397562.3_Silent_p.F118F	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	411					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGACCTTGGAAGAAGACTC	0.657																																																	0													15	20	18					11																	613210		2196	4297	6493	SO:0001819	synonymous_variant	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1233C>T	11.37:g.613210G>A			B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F424	ENST00000397574.2	37	c.1272	CCDS7703.1	11																																																																																			IRF7	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.657	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	G	NM_001572		613210	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	silent	SNP	0.586	A	A	613210	G	A	613210	2	1	74	1	0	0	0	0	0	0	0	1	7855	1165	41	1		1	IRF7	11	613210	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4908	613210	134393306	595	11290										
TMEM80	283232	genome.wustl.edu	37	chr11	695769	695769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaaatggccgaaggagcgcGagcgcgcgggccgagaggct	19	10	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:695769G>A	ENST00000608174.1	+	1	154	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	TMEM80_ENST00000397510.3_Missense_Mutation_p.R54Q|DEAF1_ENST00000382409.3_5'Flank|TMEM80_ENST00000397512.3_Missense_Mutation_p.R6Q|DEAF1_ENST00000338675.6_5'Flank	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGAGCGCGAGCGCGCGGG	0.766																																																	0													1	1	1					11																	695769		665	1854	2519	SO:0001583	missense	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.17G>A	11.37:g.695769G>A	ENSP00000476563:p.Arg6Gln		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.R6Q	ENST00000608174.1	37	c.17	CCDS41587.1	11	.	.	.	.	.	.	.	.	.	.	G	8.938	0.965101	0.18583	.	.	ENSG00000177042	ENST00000397510;ENST00000397512	D;D	0.91740	-2.9;-1.76	1.31	0.276	0.15663	.	.	.	.	.	T	0.73071	0.3540	N	0.08118	0	0.18873	N	0.999983	P;P	0.44241	0.829;0.602	B;B	0.21360	0.034;0.015	T	0.67825	-0.5570	9	0.22109	T	0.4	.	5.1349	0.14930	0.0:0.3781:0.6219:0.0	.	6;6	Q96HE8-2;Q96HE8	.;TMM80_HUMAN	Q	6	ENSP00000380646:R6Q;ENSP00000380648:R6Q	ENSP00000380646:R6Q	R	+	2	0	TMEM80	685769	0.000000	0.05858	0.008000	0.14137	0.216000	0.24613	-0.063000	0.11655	0.086000	0.17137	0.462000	0.41574	CGA	TMEM80	-	NULL		0.766	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	G	NM_174940		695769	1	no_errors	ENST00000397510	ensembl	human	known	70_37	missense	SNP	0.009	A	A	695769	G	A	695769	3	1	74	1	0	0	0	0	1	0	0	0	16234	1058	37	1	19	1	TMEM80	11	695769	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	82559	695769	134310747	596	11291										
EFCAB4A	283229	genome.wustl.edu	37	chr11	829993	829993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcccgccctccaggcagcggGctgtgaggacgctctgggcc	16	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:829993G>T	ENST00000525077.1	+	4	567	c.466G>T	c.(466-468)Gct>Tct	p.A156S	EFCAB4A_ENST00000450448.1_Missense_Mutation_p.A156S|CD151_ENST00000397420.3_5'Flank|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.A156S|CD151_ENST00000322008.4_5'Flank|AP006621.8_ENST00000532946.1_RNA|CD151_ENST00000397421.1_5'Flank			Q8N4Y2	EFC4A_HUMAN		156					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGCAGCGGGCTGTGAGGAC	0.682																																																	0													6	7	7					11																	829993		1854	4038	5892	SO:0001583	missense	283229																														ENST00000525077.1:c.466G>T	11.37:g.829993G>T	ENSP00000435299:p.Ala156Ser		D5LPR2|Q8NBW8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.A156S	ENST00000525077.1	37	c.466		11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711775	0.68730	.	.	ENSG00000177685	ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T	0.06608	3.28;3.28;3.43	4.74	3.75	0.43078	.	0.226063	0.36134	N	0.002780	T	0.09598	0.0236	L	0.57536	1.79	0.09310	N	1	P;B;B	0.47604	0.898;0.373;0.101	B;B;B	0.44224	0.444;0.166;0.052	T	0.12451	-1.0547	10	0.51188	T	0.08	-7.0732	11.3516	0.49592	0.0:0.0:0.8177:0.1823	.	156;63;156	Q8N4Y2-3;E7EU41;Q8N4Y2	.;.;EFC4A_HUMAN	S	156	ENSP00000432334:A156S;ENSP00000409256:A156S;ENSP00000435299:A156S	ENSP00000324024:A156S	A	+	1	0	EFCAB4A	819993	0.263000	0.24083	0.142000	0.22268	0.913000	0.54294	3.146000	0.50631	2.177000	0.69029	0.561000	0.74099	GCT	EFCAB4A	-	NULL		0.682	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1	G			829993	1	no_errors	ENST00000450448	ensembl	human	known	70_37	missense	SNP	0.026	T	T	829993	G	T	829993	3	4	74	1	0	0	0	0	1	0	0	0	4946	1203	42	4	480	4	EFCAB4A	11	829993	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	134224	829993	134176523	597	11292										
MUC5B	727897	genome.wustl.edu	37	chr11	1263798	1263798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccaccagctccacggccacGccctcctcaactccggggac	9	21	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:1263798G>A	ENST00000529681.1	+	31	5746	c.5688G>A	c.(5686-5688)acG>acA	p.T1896T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T1899T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1896	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGGCCACGCCCTCCTCAA	0.622																																																	0													89	110	103					11																	1263798		2184	4263	6447	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5688G>A	11.37:g.1263798G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1899	ENST00000529681.1	37	c.5697	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1263798	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1263798	G	A	1263798	2	1	74	1	0	0	0	0	0	0	0	1	10002	1074	38	2		2	MUC5B	11	1263798	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	433805	1263798	133742718	598	11293										
OR52A4	390053	genome.wustl.edu	37	chr11	5142642	5142642	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgggttcatggaggcttggcTcagatttgatgatgatcaaa	13	5	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:5142642T>G	ENST00000498233.1	-	0	756							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGGCTTGGCTCAGATTTGAT	0.423																																																	0													80	81	81					11																	5142642		2201	4298	6499			390053					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142642T>G				RNA	SNP	-	NULL	ENST00000498233.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	T	5.236	0.229044	0.09916	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74405	0.3712	.	.	.	0.22468	N	0.999079	D	0.76494	0.999	D	0.76071	0.987	T	0.82647	-0.0354	6	0.87932	D	0	.	12.2755	0.54733	0.0:0.0:0.0:1.0	.	56	A6NMU1	O52A4_HUMAN	A	56	.	ENSP00000369727:E56A	E	-	2	0	OR52A4	5099218	0.498000	0.26075	0.389000	0.26208	0.232000	0.25224	4.196000	0.58407	1.829000	0.53265	0.528000	0.53228	GAG	OR52A4	-	-		0.423	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	T	NG_029079		5142642	-1	no_errors	ENST00000481634	ensembl	human	known	70_37	rna	SNP	0.016	G	G	5142642	T	G	5142642	1	3	74	0	1	0	0	0	0	0	0	0	11133	1551	54	5		5	OR52A4	11	5142642	RNA	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3878844	5142642	129863874	599	11294										
OR51V1	283111	genome.wustl.edu	37	chr11	5221010	5221010	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctaagcattctggtatgaatCtgttgggtcttgacactgta	10	7	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:5221010C>T	ENST00000321255.1	-	1	920	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	307					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTATGAATCTGTTGGGTCT	0.393																																																	0													71	70	70					11																	5221010		2201	4298	6499	SO:0001819	synonymous_variant	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.921G>A	11.37:g.5221010C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q307	ENST00000321255.1	37	c.921	CCDS31375.1	11																																																																																			OR51V1	-	prints_GPCR_Rhodpsn		0.393	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	C	NM_001004760		5221010	-1	no_errors	ENST00000321255	ensembl	human	known	70_37	silent	SNP	0.998	T	T	5221010	C	T	5221010	2	4	74	1	0	0	0	0	0	0	0	1	11131	912	32	1		1	OR51V1	11	5221010	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	78368	5221010	129785506	600	11295										
TRIM6	117854	genome.wustl.edu	37	chr11	5624476	5624476	+	5'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgtttgttcatctacctagGattctacaggcaggaaacat	8	8	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:5624476G>A	ENST00000278302.5	+	0	74				TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.R6R|TRIM6_ENST00000380097.3_Splice_Site_p.R6R|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_5'UTR|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCTACCTAGGATTCTACAGG	0.473																																																	0													67	60	63					11																	5624476		2201	4297	6498	SO:0001623	5_prime_UTR_variant	445372			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-67G>A	11.37:g.5624476G>A			A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R6	ENST00000278302.5	37	c.18	CCDS31390.1	11																																																																																			TRIM6-TRIM34	-	NULL		0.473	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	G	NM_001003818		5624476	1	no_errors	ENST00000354852	ensembl	human	known	70_37	silent	SNP	0.000	A	A	5624476	G	A	5624476	1	1	74	0	1	0	0	0	0	0	0	0	16564	1188	41	1		1	TRIM6	11	5624476	5'UTR	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	403466	5624476	129382040	601	11296										
OR52L1	338751	genome.wustl.edu	37	chr11	6007193	6007193	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatccttttgtgtaaacactCtgagcactcgctggcggatc	9	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:6007193C>G	ENST00000332249.4	-	1	1022	c.968G>C	c.(967-969)aGa>aCa	p.R323T		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAAACACTCTGAGCACTCG	0.498																																					Melanoma(121;653 1666 10547 22796 51255)												0													44	43	43					11																	6007193		1983	4168	6151	SO:0001583	missense	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.968G>C	11.37:g.6007193C>G	ENSP00000330338:p.Arg323Thr		B2RPA6|Q6IFK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R323T	ENST00000332249.4	37	c.968	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	C	2.754	-0.259476	0.05791	.	.	ENSG00000183313	ENST00000332249	T	0.40476	1.03	3.57	1.68	0.24146	.	0.000000	0.38217	U	0.001774	T	0.31979	0.0814	L	0.59436	1.845	0.25185	N	0.990172	P	0.36282	0.546	B	0.32980	0.156	T	0.23048	-1.0199	10	0.56958	D	0.05	.	4.66	0.12637	0.0:0.6113:0.1834:0.2053	.	323	Q8NGH7	O52L1_HUMAN	T	323	ENSP00000330338:R323T	ENSP00000330338:R323T	R	-	2	0	OR52L1	5963769	0.000000	0.05858	0.342000	0.25602	0.009000	0.06853	-0.581000	0.05820	0.321000	0.23259	-0.651000	0.03910	AGA	OR52L1	-	NULL		0.498	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	C	NM_001005173		6007193	-1	no_errors	ENST00000332249	ensembl	human	known	70_37	missense	SNP	0.398	G	G	6007193	C	G	6007193	3	3	74	1	0	0	0	0	1	0	0	0	11149	913	32	1	25	1	OR52L1	11	6007193	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	382717	6007193	128999323	602	11297										
CNGA4	1262	genome.wustl.edu	37	chr11	6261555	6261555	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagctgatgctttacattttTgtcgtcatccattggaacag	8	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:6261555T>C	ENST00000379936.2	+	4	646	c.531T>C	c.(529-531)ttT>ttC	p.F177F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	177					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACATTTTTGTCGTCATCC	0.597																																																	0													68	67	67					11																	6261555		2201	4296	6497	SO:0001819	synonymous_variant	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.531T>C	11.37:g.6261555T>C				Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F177	ENST00000379936.2	37	c.531	CCDS31408.1	11																																																																																			CNGA4	-	pfam_Ion_trans_dom		0.597	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	T	NM_001037329		6261555	1	no_errors	ENST00000379936	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6261555	T	C	6261555	2	2	74	1	0	0	0	0	0	0	0	1	3604	1809	63	5		5	CNGA4	11	6261555	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	254362	6261555	128744961	603	11298										
CTR9	9646	genome.wustl.edu	37	chr11	10794773	10794773	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atattcttatgtttactggtGagactgaagcaacaaaagag	9	5	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:10794773G>A	ENST00000361367.2	+	21	3106	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	894	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTACTGGTGAGACTGAAGC	0.428																																																	0													133	135	134					11																	10794773		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2680G>A	11.37:g.10794773G>A	ENSP00000355013:p.Glu894Lys		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E894K	ENST00000361367.2	37	c.2680	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667329	0.47677	.	.	ENSG00000198730	ENST00000361367	T	0.56444	0.46	5.93	5.93	0.95920	.	0.282278	0.41194	D	0.000937	T	0.46541	0.1398	L	0.40543	1.245	0.52099	D	0.999944	B	0.27498	0.18	B	0.24006	0.05	T	0.31971	-0.9924	10	0.17832	T	0.49	-27.3767	20.3495	0.98807	0.0:0.0:1.0:0.0	.	894	Q6PD62	CTR9_HUMAN	K	894	ENSP00000355013:E894K	ENSP00000355013:E894K	E	+	1	0	CTR9	10751349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.484000	0.81180	2.814000	0.96858	0.591000	0.81541	GAG	CTR9	-	NULL		0.428	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	G	NM_014633		10794773	1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	0.995	A	A	10794773	G	A	10794773	3	1	74	1	0	0	0	0	1	0	0	0	4029	1291	45	1	2762	1	CTR9	11	10794773	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4533218	10794773	124211743	604	11299										
INSC	387755	genome.wustl.edu	37	chr11	15260507	15260507	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgtctgaaaaaccaaggtCtgggactcctgctgaagtgg	13	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:15260507C>A	ENST00000379554.3	+	11	1467	c.1421C>A	c.(1420-1422)tCt>tAt	p.S474Y	INSC_ENST00000528567.1_Missense_Mutation_p.S427Y|INSC_ENST00000379556.3_Missense_Mutation_p.S427Y|INSC_ENST00000530161.1_Missense_Mutation_p.S427Y|INSC_ENST00000525218.1_Missense_Mutation_p.S385Y|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.S385Y	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	474					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAACCAAGGTCTGGGACTCCT	0.597																																																	0													69	69	69					11																	15260507		2049	4196	6245	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1421C>A	11.37:g.15260507C>A	ENSP00000368872:p.Ser474Tyr		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.S474Y	ENST00000379554.3	37	c.1421	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448109	0.63178	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.29908	0.895	0.80722	D	1	P;B;P;P	0.44006	0.824;0.395;0.627;0.627	B;B;B;B	0.43623	0.425;0.188;0.255;0.255	T	0.27434	-1.0074	10	0.34782	T	0.22	-9.3621	18.8885	0.92389	0.0:1.0:0.0:0.0	.	462;385;427;474	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	Y	474;427;385;427;427;385	ENSP00000368872:S474Y;ENSP00000368874:S427Y;ENSP00000389161:S385Y;ENSP00000435022:S427Y;ENSP00000436194:S427Y;ENSP00000436113:S385Y	ENSP00000368872:S474Y	S	+	2	0	INSC	15217083	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.930000	0.75858	2.475000	0.83589	0.655000	0.94253	TCT	INSC	-	superfamily_ARM-type_fold,smart_Armadillo		0.597	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	C	NM_001031853		15260507	1	no_errors	ENST00000379554	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15260507	C	A	15260507	3	1	74	1	0	0	0	0	1	0	0	0	7784	913	32	3	1463	3	INSC	11	15260507	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4465734	15260507	119746009	605	11300										
FANCF	2188	genome.wustl.edu	37	chr11	22647304	22647304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgctgacgtaggtagtgcttGagaccgccagaagctcggaa	14	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:22647304G>A	ENST00000327470.3	-	1	83	c.53C>T	c.(52-54)tCa>tTa	p.S18L	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	18					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGTAGTGCTTGAGACCGCCAG	0.637			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	0													47	48	48					11																	22647304		2203	4300	6503	SO:0001583	missense	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.53C>T	11.37:g.22647304G>A	ENSP00000330875:p.Ser18Leu		Q52LM0	Missense_Mutation	SNP	NULL	p.S18L	ENST00000327470.3	37	c.53	CCDS7857.1	11	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571051	0.65765	.	.	ENSG00000183161	ENST00000327470	T	0.39406	1.08	5.39	5.39	0.77823	.	0.138862	0.49305	D	0.000158	T	0.61937	0.2387	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.62992	-0.6736	10	0.87932	D	0	-7.4122	17.509	0.87755	0.0:0.0:1.0:0.0	.	18	Q9NPI8	FANCF_HUMAN	L	18	ENSP00000330875:S18L	ENSP00000330875:S18L	S	-	2	0	FANCF	22603880	0.981000	0.34729	0.048000	0.18961	0.004000	0.04260	5.635000	0.67841	2.808000	0.96608	0.655000	0.94253	TCA	FANCF	-	NULL		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	G	NM_022725		22647304	-1	no_errors	ENST00000327470	ensembl	human	known	70_37	missense	SNP	0.804	A	A	22647304	G	A	22647304	3	1	74	1	0	0	0	0	1	0	0	0	5685	1294	45	1	1075	1	FANCF	11	22647304	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7386797	22647304	112359212	606	11301										
ANO3	63982	genome.wustl.edu	37	chr11	26484627	26484627	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatcagaacacgctacttatGaccgatctcgtctcattaat	5	11	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:26484627G>C	ENST00000256737.3	+	4	1216	c.364G>C	c.(364-366)Gac>Cac	p.D122H	ANO3_ENST00000525139.1_Missense_Mutation_p.D106H|ANO3_ENST00000531646.1_Missense_Mutation_p.D122H|ANO3_ENST00000537978.1_Missense_Mutation_p.D106H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	122					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CGCTACTTATGACCGATCTCG	0.299																																																	0													73	64	67					11																	26484627		2203	4290	6493	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.364G>C	11.37:g.26484627G>C	ENSP00000256737:p.Asp122His		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.D122H	ENST00000256737.3	37	c.364	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576272	0.65878	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.32	4.32	0.51571	.	0.482604	0.21820	N	0.068630	T	0.69663	0.3136	L	0.43152	1.355	0.32812	D	0.501619	D	0.76494	0.999	D	0.65573	0.936	T	0.75863	-0.3167	10	0.72032	D	0.01	.	12.6033	0.56509	0.0:0.0:1.0:0.0	.	122	Q9BYT9	ANO3_HUMAN	H	106;106;122;122;39	ENSP00000440737:D106H;ENSP00000432576:D106H;ENSP00000256737:D122H;ENSP00000435275:D122H	ENSP00000256737:D122H	D	+	1	0	ANO3	26441203	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.817000	0.55668	2.692000	0.91855	0.655000	0.94253	GAC	ANO3	-	NULL		0.299	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26484627	1	no_errors	ENST00000256737	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26484627	G	C	26484627	3	2	74	1	0	0	0	0	1	0	0	0	698	1290	45	1	378	1	ANO3	11	26484627	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3837323	26484627	108521889	607	11302										
QSER1	79832	genome.wustl.edu	37	chr11	32955319	32955319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcagattcaaattccaaatCatgctttagggcatggccat	7	10	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:32955319C>T	ENST00000399302.2	+	4	2463	c.2128C>T	c.(2128-2130)Cat>Tat	p.H710Y	QSER1_ENST00000527788.1_Missense_Mutation_p.H471Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	710	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTCCAAATCATGCTTTAGG	0.418																																																	0													81	77	78					11																	32955319		1903	4125	6028	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2128C>T	11.37:g.32955319C>T	ENSP00000382241:p.His710Tyr		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.H710Y	ENST00000399302.2	37	c.2128	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581856	0.28180	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.23754	2.23;1.89	5.53	2.17	0.27698	.	0.292022	0.29653	N	0.011557	T	0.18800	0.0451	N	0.19112	0.55	0.23036	N	0.998394	P;P;B	0.47604	0.898;0.51;0.192	B;B;B	0.43867	0.434;0.244;0.123	T	0.08722	-1.0708	10	0.66056	D	0.02	.	12.353	0.55159	0.4634:0.5366:0.0:0.0	.	471;471;710	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	Y	710;471;471	ENSP00000382241:H710Y;ENSP00000432766:H471Y	ENSP00000078652:H471Y	H	+	1	0	QSER1	32911895	0.992000	0.36948	0.997000	0.53966	0.944000	0.59088	1.327000	0.33746	0.654000	0.30846	0.591000	0.81541	CAT	QSER1	-	NULL		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	C	NM_024774		32955319	1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	0.971	T	T	32955319	C	T	32955319	3	4	74	1	0	0	0	0	1	0	0	0	12912	826	29	1	2134	1	QSER1	11	32955319	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6470692	32955319	102051197	608	11303										
QSER1	79832	genome.wustl.edu	37	chr11	32955635	32955635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctaacaacaaagggccattTtagtgaaacaaatcaacatg	6	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:32955635T>G	ENST00000399302.2	+	4	2779	c.2444T>G	c.(2443-2445)tTt>tGt	p.F815C	QSER1_ENST00000527788.1_Missense_Mutation_p.F576C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	815										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAGGGCCATTTTAGTGAAACA	0.363																																																	0													66	64	65					11																	32955635		1876	4100	5976	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2444T>G	11.37:g.32955635T>G	ENSP00000382241:p.Phe815Cys		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.F815C	ENST00000399302.2	37	c.2444	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039431	0.55003	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.26067	2.11;1.76	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.50274	0.1606	M	0.67953	2.075	0.50171	D	0.999855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.52734	-0.8536	10	0.72032	D	0.01	.	15.5916	0.76534	0.0:0.0:0.0:1.0	.	576;576;815	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	C	815;576;576	ENSP00000382241:F815C;ENSP00000432766:F576C	ENSP00000078652:F576C	F	+	2	0	QSER1	32912211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.594000	0.54008	2.098000	0.63641	0.454000	0.30748	TTT	QSER1	-	NULL		0.363	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	T	NM_024774		32955635	1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32955635	T	G	32955635	3	3	74	1	0	0	0	0	1	0	0	0	12912	1841	64	5	2450	5	QSER1	11	32955635	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	316	32955635	102050881	609	11304										
CAPRIN1	4076	genome.wustl.edu	37	chr11	34120902	34120902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgccgcaaatgaacactcaGcaagtgaattaatctgattc	7	9	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:34120902G>A	ENST00000341394.4	+	19	2307	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Silent_p.Q706Q|CAPRIN1_ENST00000529307.1_Silent_p.Q625Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	706					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TGAACACTCAGCAAGTGAATT	0.378																																																	0													79	73	75					11																	34120902		2202	4298	6500	SO:0001819	synonymous_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.2118G>A	11.37:g.34120902G>A			A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	pfam_Caprin-1_C	p.Q706	ENST00000341394.4	37	c.2118	CCDS31453.1	11																																																																																			CAPRIN1	-	NULL		0.378	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	G	NM_005898		34120902	1	no_errors	ENST00000341394	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34120902	G	A	34120902	2	1	74	1	0	0	0	0	0	0	0	1	2640	962	34	4		4	CAPRIN1	11	34120902	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1165267	34120902	100885614	610	11305										
CAT	847	genome.wustl.edu	37	chr11	34492955	34492955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcagtccggatctcacttggCggcaagggagaaggcaaatc	14	10	1	1	rs573379158		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:34492955C>T	ENST00000241052.4	+	13	1648	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	520				A -> V (in Ref. 3; AAK29181). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCTCACTTGGCGGCAAGGGAG	0.502													C|||	1	0.000199681	0	0	5008	,	,		17446	0.001		0	False		,,,				2504	0																0													118	110	113					11																	34492955		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1559C>T	11.37:g.34492955C>T	ENSP00000241052:p.Ala520Val		A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.A520V	ENST00000241052.4	37	c.1559	CCDS7891.1	11	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776655	0.31411	.	.	ENSG00000121691	ENST00000241052	D	0.91577	-2.87	5.18	3.28	0.37604	.	0.597985	0.19142	N	0.121670	T	0.81221	0.4777	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65348	-0.6190	10	0.23302	T	0.38	-4.4672	7.5584	0.27837	0.0:0.744:0.1659:0.0901	.	520	P04040	CATA_HUMAN	V	520	ENSP00000241052:A520V	ENSP00000241052:A520V	A	+	2	0	CAT	34449531	0.712000	0.27916	0.001000	0.08648	0.006000	0.05464	2.134000	0.42102	0.671000	0.31185	-0.215000	0.12644	GCG	CAT	-	NULL		0.502	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	C	NM_001752		34492955	1	no_errors	ENST00000241052	ensembl	human	known	70_37	missense	SNP	0.021	T	T	34492955	C	T	34492955	3	4	74	1	0	0	0	0	1	0	0	0	2691	768	27	2	1609	2	CAT	11	34492955	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	372053	34492955	100513561	611	11306										
HSD17B12	51144	genome.wustl.edu	37	chr11	43775659	43775659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggataaacttgaccaggttTccagtgaaataagtaagttc	9	6	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:43775659T>G	ENST00000278353.4	+	3	390	c.271T>G	c.(271-273)Tcc>Gcc	p.S91A	HSD17B12_ENST00000395700.4_Missense_Mutation_p.S91A|HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	91					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						TGACCAGGTTTCCAGTGAAAT	0.353																																					Ovarian(58;548 1143 13948 16572 34258)												0													130	134	133					11																	43775659		2203	4300	6503	SO:0001583	missense	51144			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.271T>G	11.37:g.43775659T>G	ENSP00000278353:p.Ser91Ala		A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S91A	ENST00000278353.4	37	c.271	CCDS7905.1	11	.	.	.	.	.	.	.	.	.	.	T	3.650	-0.071687	0.07228	.	.	ENSG00000149084	ENST00000278353;ENST00000395700	T;D	0.86297	1.02;-2.1	5.46	3.13	0.36017	NAD(P)-binding domain (1);	0.163890	0.53938	N	0.000058	T	0.56108	0.1963	N	0.00315	-1.66	0.30089	N	0.80847	B	0.10296	0.003	B	0.10450	0.005	T	0.56805	-0.7918	10	0.02654	T	1	-8.8051	10.2622	0.43434	0.0:0.0:0.4987:0.5013	.	91	Q53GQ0	DHB12_HUMAN	A	91	ENSP00000278353:S91A;ENSP00000379052:S91A	ENSP00000278353:S91A	S	+	1	0	HSD17B12	43732235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.930000	0.40124	0.877000	0.35895	0.482000	0.46254	TCC	HSD17B12	-	pfam_DH_sc/Rdtase_SDR		0.353	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	HGNC	protein_coding	OTTHUMT00000389594.1	T			43775659	1	no_errors	ENST00000278353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43775659	T	G	43775659	3	3	74	1	0	0	0	0	1	0	0	0	7401	1783	62	5	281	5	HSD17B12	11	43775659	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	9282704	43775659	91230857	612	11307										
ACCSL	390110	genome.wustl.edu	37	chr11	44077812	44077812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcctctgctgtgagtgccttTggctacctccacagtatttc	9	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:44077812T>C	ENST00000378832.1	+	11	1319	c.1263T>C	c.(1261-1263)ttT>ttC	p.F421F		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	421					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGAGTGCCTTTGGCTACCTCC	0.522																																																	0													115	106	109					11																	44077812		1994	4177	6171	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1263T>C	11.37:g.44077812T>C				Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F421	ENST00000378832.1	37	c.1263	CCDS41636.1	11																																																																																			ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.522	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	T	NM_001031854		44077812	1	no_errors	ENST00000378832	ensembl	human	known	70_37	silent	SNP	0.962	C	C	44077812	T	C	44077812	2	2	74	1	0	0	0	0	0	0	0	1	134	1809	63	5		5	ACCSL	11	44077812	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	302153	44077812	90928704	613	11308										
DGKZ	8525	genome.wustl.edu	37	chr11	46395776	46395776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acgtcaccctggagttccacGagtctcgaggttggcagcct	12	13	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:46395776G>C	ENST00000454345.1	+	16	2085	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	DGKZ_ENST00000456247.2_Missense_Mutation_p.E465Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E466Q|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000343674.6_Missense_Mutation_p.E482Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E466Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E432Q|DGKZ_ENST00000528615.1_Missense_Mutation_p.E244Q|DGKZ_ENST00000318201.8_Missense_Mutation_p.E443Q|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.E470Q	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	654					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGAGTTCCACGAGTCTCGAGG	0.607																																																	0													80	71	74					11																	46395776		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1960G>C	11.37:g.46395776G>C	ENSP00000412178:p.Glu654Gln		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E654Q	ENST00000454345.1	37	c.1960	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692319	0.88735	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.31	4.31	0.51392	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.979;1.0;1.0;0.994;0.993;1.0;1.0;0.989	D;P;D;D;D;D;D;D;D	0.87578	0.961;0.862;0.996;0.998;0.96;0.935;0.997;0.998;0.961	T	0.52593	-0.8555	10	0.66056	D	0.02	.	17.1569	0.86793	0.0:0.0:1.0:0.0	.	443;431;409;466;654;465;466;432;482	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	Q	482;244;432;431;466;465;466;443;654	ENSP00000343065:E482Q;ENSP00000434719:E244Q;ENSP00000378941:E432Q;ENSP00000436273:E431Q;ENSP00000436291:E466Q;ENSP00000395684:E465Q;ENSP00000391021:E466Q;ENSP00000320340:E443Q;ENSP00000412178:E654Q	ENSP00000320340:E443Q	E	+	1	0	DGKZ	46352352	1.000000	0.71417	0.992000	0.48379	0.805000	0.45488	9.869000	0.99810	2.128000	0.65567	0.561000	0.74099	GAG	DGKZ	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.607	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46395776	1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46395776	G	C	46395776	3	2	74	1	0	0	0	0	1	0	0	0	4484	1059	37	1	2465	1	DGKZ	11	46395776	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2317964	46395776	88610740	614	11309										
OR4X1	390113	genome.wustl.edu	37	chr11	48285667	48285667	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttatctttgactcctttatCaagaggaaagtcatttctct	5	9	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:48285667C>G	ENST00000320048.1	+	1	255	c.255C>G	c.(253-255)atC>atG	p.I85M		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ACTCCTTTATCAAGAGGAAAG	0.473																																																	0													95	90	91					11																	48285667		2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.255C>G	11.37:g.48285667C>G	ENSP00000321506:p.Ile85Met		Q6IF74	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I85M	ENST00000320048.1	37	c.255	CCDS31487.1	11	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891293	0.02491	.	.	ENSG00000176567	ENST00000320048	T	0.00397	7.57	4.28	-8.57	0.00900	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.34601	-0.9822	9	0.35671	T	0.21	.	3.3393	0.07113	0.1013:0.1426:0.4026:0.3534	.	85	Q8NH49	OR4X1_HUMAN	M	85	ENSP00000321506:I85M	ENSP00000321506:I85M	I	+	3	3	OR4X1	48242243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.970000	0.00048	-2.018000	0.00943	-0.259000	0.10710	ATC	OR4X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1	C	NM_001004726		48285667	1	no_errors	ENST00000320048	ensembl	human	known	70_37	missense	SNP	0.000	G	G	48285667	C	G	48285667	3	3	74	1	0	0	0	0	1	0	0	0	11108	816	29	1	257	1	OR4X1	11	48285667	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1889891	48285667	86720849	615	11310										
OR8H3	390152	genome.wustl.edu	37	chr11	55890680	55890680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcaagtggctcctgtgtttTatactattgtgattcccatg	8	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:55890680T>C	ENST00000313472.3	+	1	832	c.832T>C	c.(832-834)Tat>Cat	p.Y278H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCTGTGTTTTATACTATTGT	0.383																																																	0													102	105	104					11																	55890680		2201	4296	6497	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.832T>C	11.37:g.55890680T>C	ENSP00000323928:p.Tyr278His		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y278H	ENST00000313472.3	37	c.832	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202164	0.58234	.	.	ENSG00000181761	ENST00000313472	T	0.00321	8.11	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.00784	0.0026	M	0.88241	2.94	0.36033	D	0.83953	D	0.89917	1.0	D	0.97110	1.0	T	0.60791	-0.7193	10	0.87932	D	0	.	12.565	0.56304	0.0:0.0:0.0:1.0	.	278	Q8N146	OR8H3_HUMAN	H	278	ENSP00000323928:Y278H	ENSP00000323928:Y278H	Y	+	1	0	OR8H3	55647256	0.999000	0.42202	0.969000	0.41365	0.583000	0.36354	5.279000	0.65597	1.415000	0.47037	0.145000	0.16022	TAT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.383	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	T	NM_001005201		55890680	1	no_errors	ENST00000313472	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55890680	T	C	55890680	3	2	74	1	0	0	0	0	1	0	0	0	11263	1754	61	5	834	5	OR8H3	11	55890680	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	7605013	55890680	79115836	616	11311										
OR8K5	219453	genome.wustl.edu	37	chr11	55926966	55926966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggattactaaagtgtaaaaCacagaagccattttatcagt	8	6	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:55926966C>T	ENST00000313447.1	-	1	827	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AAGTGTAAAACACAGAAGCCA	0.393																																																	0													104	89	94					11																	55926966		2201	4296	6497	SO:0001819	synonymous_variant	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.828G>A	11.37:g.55926966C>T			Q6IFB5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V276	ENST00000313447.1	37	c.828	CCDS31521.1	11																																																																																			OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55926966	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	silent	SNP	0.245	T	T	55926966	C	T	55926966	2	4	74	1	0	0	0	0	0	0	0	1	11269	465	17	4		4	OR8K5	11	55926966	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	36286	55926966	79079550	617	11312										
OR5T2	219464	genome.wustl.edu	37	chr11	56000560	56000560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgaaatctagaacaaacttGaagatatgcataaagttaca	6	5	1	4	rs368044225		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:56000560G>A	ENST00000313264.4	-	1	177	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAACAAACTTGAAGATATGCA	0.353																																																	0								G		0,4402		0,0,2201	80	73	75		102	1.5	0	11		75	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR5T2	NM_001004746.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		34/360	56000560	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.102C>T	11.37:g.56000560G>A			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F34	ENST00000313264.4	37	c.102	CCDS31523.1	11																																																																																			OR5T2	-	NULL		0.353	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	G	NM_001004746		56000560	-1	no_errors	ENST00000313264	ensembl	human	known	70_37	silent	SNP	0.160	A	A	56000560	G	A	56000560	2	1	74	1	0	0	0	0	0	0	0	1	11206	1281	45	1		1	OR5T2	11	56000560	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	73594	56000560	79005956	618	11313										
MPEG1	219972	genome.wustl.edu	37	chr11	58979797	58979797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgtctggttgttctctagaCggtcagagatgtcaaggagt	13	7	4	2	rs370491206		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:58979797C>T	ENST00000361050.3	-	1	627	c.542G>A	c.(541-543)cGt>cAt	p.R181H	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	181	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTTCTCTAGACGGTCAGAGAT	0.522																																																	0								C	HIS/ARG	3,3923		0,3,1960	131	120	124		542	-1.4	0.1	11		124	0,8280		0,0,4140	no	missense	MPEG1	NM_001039396.1	29	0,3,6100	TT,TC,CC		0.0,0.0764,0.0246	probably-damaging	181/717	58979797	3,12203	1963	4140	6103	SO:0001583	missense	219972			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.542G>A	11.37:g.58979797C>T	ENSP00000354335:p.Arg181His		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R181H	ENST00000361050.3	37	c.542	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.594018	0.00857	7.64E-4	0.0	ENSG00000197629	ENST00000361050	D	0.84070	-1.8	5.2	-1.44	0.08856	Membrane attack complex component/perforin (MACPF) domain (3);	0.485207	0.22233	N	0.062790	T	0.68174	0.2972	L	0.45137	1.4	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.50617	-0.8807	10	0.11182	T	0.66	-0.8451	5.387	0.16224	0.1354:0.3776:0.0:0.487	.	181	Q2M385	MPEG1_HUMAN	H	181	ENSP00000354335:R181H	ENSP00000354335:R181H	R	-	2	0	MPEG1	58736373	0.941000	0.31946	0.077000	0.20336	0.245000	0.25701	0.774000	0.26675	-0.600000	0.05790	-0.794000	0.03295	CGT	MPEG1	-	pfam_MACPF,smart_MACPF		0.522	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	C	NM_001039396		58979797	-1	no_errors	ENST00000361050	ensembl	human	known	70_37	missense	SNP	0.068	T	T	58979797	C	T	58979797	3	4	74	1	0	0	0	0	1	0	0	0	9746	536	19	2	1612	2	MPEG1	11	58979797	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2979237	58979797	76026719	619	11314										
MS4A1	931	genome.wustl.edu	37	chr11	60235878	60235878	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaagaagaagaaacagagacGaactttccagaacctcccca	8	11	0	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:60235878G>A	ENST00000534668.1	+	7	1120	c.831G>A	c.(829-831)acG>acA	p.T277T	MS4A1_ENST00000532073.1_Silent_p.T264T|MS4A1_ENST00000345732.4_Silent_p.T277T|MS4A1_ENST00000528313.1_Silent_p.T110T|MS4A1_ENST00000389939.2_Silent_p.T277T	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	277					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.T277T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AAACAGAGACGAACTTTCCAG	0.378																																																	1	Substitution - coding silent(1)	large_intestine(1)											105	102	103					11																	60235878		2203	4300	6503	SO:0001819	synonymous_variant	931			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.831G>A	11.37:g.60235878G>A			A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	pfam_CD20-like	p.T277	ENST00000534668.1	37	c.831	CCDS31570.1	11																																																																																			MS4A1	-	NULL		0.378	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A1	HGNC	protein_coding	OTTHUMT00000395402.1	G			60235878	1	no_errors	ENST00000345732	ensembl	human	known	70_37	silent	SNP	0.109	A	A	60235878	G	A	60235878	2	1	74	1	0	0	0	0	0	0	0	1	9877	1045	37	1		1	MS4A1	11	60235878	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1256081	60235878	74770638	620	11315										
CD6	923	genome.wustl.edu	37	chr11	60776020	60776020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccctagagaaccgcgcgctgCgcctggtggacggtggcggc	17	14	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:60776020C>T	ENST00000313421.7	+	4	670	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	CD6_ENST00000344028.5_Missense_Mutation_p.R162C|CD6_ENST00000545105.1_Intron|CD6_ENST00000352009.5_Missense_Mutation_p.R162C|CD6_ENST00000452451.2_Missense_Mutation_p.R162C|CD6_ENST00000346437.4_Missense_Mutation_p.R162C	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	162	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CCGCGCGCTGCGCCTGGTGGA	0.682																																					Pancreas(169;904 2017 4767 38890 42505)												0													15	14	14					11																	60776020		2193	4287	6480	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.484C>T	11.37:g.60776020C>T	ENSP00000323280:p.Arg162Cys		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R162C	ENST00000313421.7	37	c.484	CCDS7999.1	11	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707204	0.68615	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.0	0.821	0.18799	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.139871	0.27270	N	0.020130	T	0.77068	0.4076	H	0.96604	3.85	0.50813	D	0.999896	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.964;0.985;0.99;0.92	T	0.76761	-0.2840	10	0.87932	D	0	.	7.2628	0.26214	0.2967:0.6207:0.0:0.0826	.	162;162;162;162;162	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.;.;.;CD6_HUMAN;.	C	162	ENSP00000344108:R162C;ENSP00000345566:R162C;ENSP00000323280:R162C;ENSP00000440055:R162C;ENSP00000410638:R162C;ENSP00000390676:R162C;ENSP00000340628:R162C	ENSP00000323280:R162C	R	+	1	0	CD6	60532596	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	1.498000	0.35660	0.348000	0.23949	-0.136000	0.14681	CGC	CD6	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt		0.682	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1	C	NM_006725		60776020	1	no_errors	ENST00000313421	ensembl	human	known	70_37	missense	SNP	0.985	T	T	60776020	C	T	60776020	3	4	74	1	0	0	0	0	1	0	0	0	3033	768	27	2	498	2	CD6	11	60776020	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	540142	60776020	74230496	621	11316										
C11orf66	220004	genome.wustl.edu	37	chr11	61249366	61249366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cggaccccctgaaattctacGccaccagctactgcaccgcc	7	19	1	1	rs372889299		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:61249366G>A	ENST00000338608.2	+	2	210	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.A29T	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	29							phosphatase binding (GO:0019902)										GAAATTCTACGCCACCAGCTA	0.622																																																	0								G	THR/ALA,THR/ALA	0,4404		0,0,2202	37	37	37		85,85	5.1	1	11		37	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	C11orf66	NM_001170753.1,NM_145017.2	58,58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	29/406,29/426	61249366	1,13001	2202	4299	6501	SO:0001583	missense	220004			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.85G>A	11.37:g.61249366G>A	ENSP00000344140:p.Ala29Thr		Q4G0P4|Q96M77	Missense_Mutation	SNP	NULL	p.A29T	ENST00000338608.2	37	c.85	CCDS8008.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414356	0.83449	0.0	1.16E-4	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.47528	0.84;1.42	5.1	5.1	0.69264	.	0.240896	0.29624	N	0.011640	T	0.64405	0.2595	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.964;0.975	T	0.65125	-0.6244	9	.	.	.	-11.5622	11.1869	0.48662	0.0:0.0:0.8166:0.1834	.	29;29	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	T	29	ENSP00000391560:A29T;ENSP00000344140:A29T	.	A	+	1	0	C11orf66	61005942	0.999000	0.42202	0.992000	0.48379	0.980000	0.70556	3.589000	0.53972	2.383000	0.81215	0.655000	0.94253	GCC	PPP1R32	-	NULL		0.622	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R32	HGNC	protein_coding	OTTHUMT00000398621.1	G	NM_145017		61249366	1	no_errors	ENST00000338608	ensembl	human	known	70_37	missense	SNP	0.979	A	A	61249366	G	A	61249366	3	1	74	1	0	0	0	0	1	0	0	0	1660	1087	38	2	87	2	C11orf66	11	61249366	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	473346	61249366	73757150	622	11317										
B3GAT3	26229	genome.wustl.edu	37	chr11	62384213	62384213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtacctgagggccctcgaatCgcaggccgcccaccagcccc	11	19	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:62384213C>T	ENST00000265471.5	-	4	901	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	B3GAT3_ENST00000531383.1_Missense_Mutation_p.R225Q|B3GAT3_ENST00000534026.1_Missense_Mutation_p.R225Q	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	225					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GCCCTCGAATCGCAGGCCGCC	0.647																																																	0													29	32	31					11																	62384213		2202	4299	6501	SO:0001583	missense	26229			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.674G>A	11.37:g.62384213C>T	ENSP00000265471:p.Arg225Gln		B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R225Q	ENST00000265471.5	37	c.674	CCDS8025.1	11	.	.	.	.	.	.	.	.	.	.	c	23.0	4.367674	0.82463	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026	T;T;T	0.76839	-1.05;-1.05;-1.05	4.78	4.78	0.61160	.	0.059752	0.64402	D	0.000003	D	0.83755	0.5323	M	0.69358	2.11	0.46396	D	0.999029	D;D;D	0.76494	0.998;0.999;0.994	P;P;P	0.60173	0.836;0.87;0.744	T	0.81320	-0.0986	10	0.25106	T	0.35	.	15.3634	0.74499	0.0:1.0:0.0:0.0	.	225;231;225	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	Q	225	ENSP00000265471:R225Q;ENSP00000431359:R225Q;ENSP00000432474:R225Q	ENSP00000265471:R225Q	R	-	2	0	B3GAT3	62140789	0.980000	0.34600	0.997000	0.53966	0.993000	0.82548	2.421000	0.44688	2.491000	0.84063	0.556000	0.70494	CGA	B3GAT3	-	pfam_Glyco_trans_43		0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT3	HGNC	protein_coding	OTTHUMT00000395588.1	C	NM_012200		62384213	-1	no_errors	ENST00000265471	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62384213	C	T	62384213	3	4	74	1	0	0	0	0	1	0	0	0	1256	884	31	1	341	1	B3GAT3	11	62384213	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1134847	62384213	72622303	623	11318										
GANAB	23193	genome.wustl.edu	37	chr11	62393834	62393834	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caagggtgttgccagagaatGagaatcgacgcagcaggaac	14	8	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:62393834G>A	ENST00000356638.3	-	22	2613	c.2597C>T	c.(2596-2598)tCa>tTa	p.S866L	GANAB_ENST00000534779.1_Missense_Mutation_p.S774L|GANAB_ENST00000540933.1_Missense_Mutation_p.S769L|GANAB_ENST00000346178.4_Missense_Mutation_p.S888L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	866					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCCAGAGAATGAGAATCGACG	0.547																																					Melanoma(23;1005 1074 15747 18937)												0													132	116	122					11																	62393834		2202	4299	6501	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2597C>T	11.37:g.62393834G>A	ENSP00000349053:p.Ser866Leu		A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.S888L	ENST00000356638.3	37	c.2663	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633519	0.29068	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88975	-2.4;-2.35;-2.45;-2.4	4.71	3.79	0.43588	.	0.404113	0.25009	N	0.033853	T	0.81740	0.4886	L	0.28694	0.88	0.34511	D	0.707081	B;B;B;B	0.12013	0.001;0.001;0.005;0.004	B;B;B;B	0.12837	0.002;0.002;0.006;0.008	T	0.77595	-0.2529	10	0.29301	T	0.29	-6.1744	11.7343	0.51757	0.0923:0.0:0.9077:0.0	.	752;774;866;888	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	888;866;774;769	ENSP00000340466:S888L;ENSP00000349053:S866L;ENSP00000435306:S774L;ENSP00000442962:S769L	ENSP00000340466:S888L	S	-	2	0	GANAB	62150410	0.991000	0.36638	0.951000	0.38953	0.985000	0.73830	2.058000	0.41374	0.600000	0.29862	-0.797000	0.03246	TCA	GANAB	-	NULL		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	G	NM_198334		62393834	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	missense	SNP	0.968	A	A	62393834	G	A	62393834	3	1	74	1	0	0	0	0	1	0	0	0	6252	1294	45	1	249	1	GANAB	11	62393834	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	9621	62393834	72612682	624	11319										
PLCB3	5331	genome.wustl.edu	37	chr11	64026024	64026024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgccgctgcgtggagctggaCgtgtggaagggacggccgcc	19	11	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:64026024C>T	ENST00000540288.1	+	11	1195	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	PLCB3_ENST00000279230.6_Silent_p.D364D|PLCB3_ENST00000325234.5_Silent_p.D297D	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	364	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGAGCTGGACGTGTGGAAGG	0.672																																																	0													115	100	105					11																	64026024		2201	4297	6498	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1092C>T	11.37:g.64026024C>T			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D364	ENST00000540288.1	37	c.1092	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.672	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	C			64026024	1	no_errors	ENST00000279230	ensembl	human	known	70_37	silent	SNP	0.997	T	T	64026024	C	T	64026024	2	4	74	1	0	0	0	0	0	0	0	1	12053	535	19	2		2	PLCB3	11	64026024	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1632190	64026024	70980492	625	11320										
ZFPL1	7542	genome.wustl.edu	37	chr11	64855570	64855570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actcatgaaccctcacatccGcgtgggcccctcctgagccc	8	19	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:64855570G>A	ENST00000294258.3	+	8	1069	c.917G>A	c.(916-918)cGc>cAc	p.R306H	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	306					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCTCACATCCGCGTGGGCCCC	0.657																																																	0													66	67	67					11																	64855570		2201	4297	6498	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.917G>A	11.37:g.64855570G>A	ENSP00000294258:p.Arg306His		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.R306H	ENST00000294258.3	37	c.917	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623679	0.46840	.	.	ENSG00000162300	ENST00000294258	T	0.53206	0.63	4.94	4.94	0.65067	.	0.176835	0.48286	D	0.000192	T	0.30696	0.0773	L	0.28054	0.825	0.80722	D	1	B	0.32128	0.357	B	0.26693	0.072	T	0.11690	-1.0577	10	0.38643	T	0.18	-10.5648	9.1213	0.36788	0.0975:0.0:0.9025:0.0	.	306	O95159	ZFPL1_HUMAN	H	306	ENSP00000294258:R306H	ENSP00000294258:R306H	R	+	2	0	ZFPL1	64612146	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.103000	0.71492	2.563000	0.86464	0.655000	0.94253	CGC	ZFPL1	-	NULL		0.657	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	G	NM_006782		64855570	1	no_errors	ENST00000294258	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64855570	G	A	64855570	3	1	74	1	0	0	0	0	1	0	0	0	17686	1087	38	2	943	2	ZFPL1	11	64855570	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	829546	64855570	70150946	626	11321										
SNX32	254122	genome.wustl.edu	37	chr11	65617642	65617642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccccccagcccctccgaggCcagactttgaggcttcgagg	11	17	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:65617642C>A	ENST00000308342.6	+	4	699	c.274C>A	c.(274-276)Cca>Aca	p.P92T		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCCTCCGAGGCCAGACTTTGA	0.602																																																	0													57	62	61					11																	65617642		2201	4297	6498	SO:0001583	missense	254122			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.274C>A	11.37:g.65617642C>A	ENSP00000310620:p.Pro92Thr		Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.P92T	ENST00000308342.6	37	c.274	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042150	0.55003	.	.	ENSG00000172803	ENST00000308342	T	0.39056	1.1	4.68	2.79	0.32731	Phox homologous domain (4);	0.263109	0.27811	N	0.017760	T	0.54481	0.1861	M	0.81341	2.54	0.42524	D	0.993012	P	0.50272	0.933	P	0.53954	0.738	T	0.57039	-0.7879	10	0.87932	D	0	-24.9884	7.9547	0.30035	0.0:0.7467:0.1624:0.0908	.	92	Q86XE0	SNX32_HUMAN	T	92	ENSP00000310620:P92T	ENSP00000310620:P92T	P	+	1	0	SNX32	65374218	1.000000	0.71417	0.756000	0.31282	0.970000	0.65996	3.461000	0.53035	0.572000	0.29383	0.561000	0.74099	CCA	SNX32	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox		0.602	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	C	NM_152760		65617642	1	no_errors	ENST00000308342	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65617642	C	A	65617642	3	1	74	1	0	0	0	0	1	0	0	0	14932	739	26	4	288	4	SNX32	11	65617642	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	762072	65617642	69388874	627	11322										
BANF1	8815	genome.wustl.edu	37	chr11	65771228	65771228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggatgccttcgagagtggtgCgacgccttcttgtgatgctc	14	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:65771228C>T	ENST00000312175.2	+	3	763	c.255C>T	c.(253-255)tgC>tgT	p.C85C	EIF1AD_ENST00000527249.1_5'Flank|EIF1AD_ENST00000533544.1_5'Flank|EIF1AD_ENST00000525767.1_5'Flank|BANF1_ENST00000527348.1_Silent_p.C85C|BANF1_ENST00000445560.2_Silent_p.C85C|BANF1_ENST00000533166.1_Silent_p.C85C|EIF1AD_ENST00000526451.1_5'Flank|BANF1_ENST00000524628.1_3'UTR|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000529964.1_5'Flank	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	85					DNA integration (GO:0015074)|establishment of integrated proviral latency (GO:0075713)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|response to virus (GO:0009615)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|prostate(1)	3						GAGAGTGGTGCGACGCCTTCT	0.562																																																	0													66	63	64					11																	65771228		2201	4296	6497	SO:0001819	synonymous_variant	8815			AF068235	CCDS8125.1	11q13.1	2012-04-19			ENSG00000175334	ENSG00000175334			17397	protein-coding gene	gene with protein product		603811				9465049	Standard	NM_003860		Approved	BAF	uc001ogp.3	O75531	OTTHUMG00000166749	ENST00000312175.2:c.255C>T	11.37:g.65771228C>T			O60558|Q6FGG7	Silent	SNP	pfam_BAF_prot,superfamily_BAF_prot	p.C85	ENST00000312175.2	37	c.255	CCDS8125.1	11																																																																																			BANF1	-	pfam_BAF_prot,superfamily_BAF_prot		0.562	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANF1	HGNC	protein_coding	OTTHUMT00000391340.1	C	NM_003860		65771228	1	no_errors	ENST00000312175	ensembl	human	known	70_37	silent	SNP	0.156	T	T	65771228	C	T	65771228	2	4	74	1	0	0	0	0	0	0	0	1	1308	776	27	2		2	BANF1	11	65771228	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	153586	65771228	69235288	628	11323										
KLC2	64837	genome.wustl.edu	37	chr11	66032657	66032657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggataagcgccgggacagcGccccctatggggaatacggc	15	12	0	0	rs201517210		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:66032657G>A	ENST00000417856.1	+	11	1528	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	KLC2_ENST00000421552.1_Missense_Mutation_p.A352T|KLC2_ENST00000316924.5_Missense_Mutation_p.A429T|KLC2_ENST00000394066.2_Missense_Mutation_p.A352T|KLC2_ENST00000394065.2_Missense_Mutation_p.A290T|RP11-867G23.2_ENST00000533287.1_RNA|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A429T	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	429					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CCGGGACAGCGCCCCCTATGG	0.657											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	58	55					11																	66032657		2200	4295	6495	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1285G>A	11.37:g.66032657G>A	ENSP00000399403:p.Ala429Thr	1088	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A429T	ENST00000417856.1	37	c.1285	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690965	0.48097	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.82711	-1.02;-1.02;-1.02;-0.99;-0.99;-1.64	4.37	3.35	0.38373	.	0.236508	0.36778	N	0.002414	T	0.55242	0.1908	N	0.02357	-0.585	0.30264	N	0.792906	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47328	-0.9126	10	0.15066	T	0.55	-8.2897	4.6852	0.12754	0.5031:0.0:0.4969:0.0	.	290;352;429	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	T	429;429;429;352;352;290	ENSP00000399403:A429T;ENSP00000377631:A429T;ENSP00000314837:A429T;ENSP00000408484:A352T;ENSP00000377630:A352T;ENSP00000377629:A290T	ENSP00000314837:A429T	A	+	1	0	KLC2	65789233	0.991000	0.36638	1.000000	0.80357	0.910000	0.53928	2.321000	0.43805	0.892000	0.36259	0.561000	0.74099	GCC	KLC2	-	NULL		0.657	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66032657	1	no_errors	ENST00000316924	ensembl	human	known	70_37	missense	SNP	0.999	A	A	66032657	G	A	66032657	3	1	74	1	0	0	0	0	1	0	0	0	8354	1087	38	2	1323	2	KLC2	11	66032657	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	261429	66032657	68973859	629	11324										
CORO1B	57175	genome.wustl.edu	37	chr11	67207593	67207593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcggtagccctcttaccgggCgatctcgcacttgctgacct	10	15	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:67207593C>T	ENST00000341356.5	-	8	1113	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	CORO1B_ENST00000393893.1_Missense_Mutation_p.A335T|CORO1B_ENST00000539724.1_Intron|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	335					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTTACCGGGCGATCTCGCAC	0.622																																																	0													59	62	61					11																	67207593		2200	4295	6495	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1003G>A	11.37:g.67207593C>T	ENSP00000340211:p.Ala335Thr		B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A335T	ENST00000341356.5	37	c.1003	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670676	0.47781	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.33654	1.4;1.4	3.86	3.86	0.44501	Domain of unknown function DUF1900 (1);	0.000000	0.40728	N	0.001022	T	0.40247	0.1109	L	0.60904	1.88	0.58432	D	0.999999	P	0.36125	0.538	B	0.40677	0.337	T	0.30060	-0.9991	10	0.29301	T	0.29	.	16.6935	0.85328	0.0:1.0:0.0:0.0	.	335	Q9BR76	COR1B_HUMAN	T	335	ENSP00000377471:A335T;ENSP00000340211:A335T	ENSP00000340211:A335T	A	-	1	0	CORO1B	66964169	1.000000	0.71417	0.974000	0.42286	0.310000	0.27922	7.564000	0.82326	2.428000	0.82296	0.591000	0.81541	GCC	CORO1B	-	pfam_DUF1900		0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	C	NM_020441		67207593	-1	no_errors	ENST00000341356	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67207593	C	T	67207593	3	4	74	1	0	0	0	0	1	0	0	0	3759	768	27	2	482	2	CORO1B	11	67207593	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1174936	67207593	67798923	630	11325										
CHKA	1119	genome.wustl.edu	37	chr11	67832053	67832053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcttcagtactgaggttttCaaagtcattttggaatgcag	9	6	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:67832053C>T	ENST00000265689.4	-	10	1197	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CHKA_ENST00000356135.5_Missense_Mutation_p.E373K|CHKA_ENST00000533728.1_5'Flank	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	391					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CTGAGGTTTTCAAAGTCATTT	0.289																																																	0													75	76	76					11																	67832053		2200	4294	6494	SO:0001583	missense	1119			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"choline kinase"	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.1171G>A	11.37:g.67832053C>T	ENSP00000265689:p.Glu391Lys		Q8NE29	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E391K	ENST00000265689.4	37	c.1171	CCDS8178.1	11	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346038	0.41599	.	.	ENSG00000110721	ENST00000265689;ENST00000356135	T;T	0.58358	0.34;0.34	5.67	3.6	0.41247	Protein kinase-like domain (1);	0.573701	0.18949	N	0.126733	T	0.38321	0.1036	L	0.31157	0.91	0.49483	D	0.999794	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.09443	-1.0674	10	0.27082	T	0.32	-6.8729	10.4316	0.44411	0.1307:0.7952:0.0:0.074	.	373;391	P35790-2;P35790	.;CHKA_HUMAN	K	391;373	ENSP00000265689:E391K;ENSP00000348454:E373K	ENSP00000265689:E391K	E	-	1	0	CHKA	67588629	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	1.420000	0.34804	0.607000	0.29982	-0.182000	0.12963	GAA	CHKA	-	superfamily_Kinase-like_dom		0.289	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHKA	HGNC	protein_coding	OTTHUMT00000394570.1	C	NM_001277		67832053	-1	no_errors	ENST00000265689	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67832053	C	T	67832053	3	4	74	1	0	0	0	0	1	0	0	0	3352	835	29	1	214	1	CHKA	11	67832053	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	624460	67832053	67174463	631	11326										
MTL5	9633	genome.wustl.edu	37	chr11	68517982	68517982	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggcccaggtacgcttctttGaagacgtggaactcgtcctc	12	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:68517982G>A	ENST00000255087.5	-	2	330	c.147C>T	c.(145-147)ttC>ttT	p.F49F	MTL5_ENST00000443940.2_Silent_p.F49F|MTL5_ENST00000544963.1_Silent_p.F49F|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	49					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ACGCTTCTTTGAAGACGTGGA	0.652																																																	0													25	20	22					11																	68517982		2194	4293	6487	SO:0001819	synonymous_variant	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.147C>T	11.37:g.68517982G>A			A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	pfam_CRC,superfamily_Thionin	p.F49	ENST00000255087.5	37	c.147	CCDS8184.1	11																																																																																			MTL5	-	NULL		0.652	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	G	NM_004923		68517982	-1	no_errors	ENST00000255087	ensembl	human	known	70_37	silent	SNP	0.000	A	A	68517982	G	A	68517982	2	1	74	1	0	0	0	0	0	0	0	1	9959	1281	45	1		1	MTL5	11	68517982	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	685929	68517982	66488534	632	11327										
SHANK2	22941	genome.wustl.edu	37	chr11	70319407	70319407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaccacagggcttggggcaCgtcttgttcctgaggtcctg	14	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:70319407C>T	ENST00000423696.2	-	16	4016	c.3980G>A	c.(3979-3981)cGt>cAt	p.R1327H	SHANK2_ENST00000449833.2_Missense_Mutation_p.R1111H|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1110H|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1707H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1327					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGGGGCACGTCTTGTTCC	0.637																																																	0													53	53	53					11																	70319407		2200	4294	6494	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3980G>A	11.37:g.70319407C>T	ENSP00000394536:p.Arg1327His		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R1707H	ENST00000423696.2	37	c.5120		11	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812232	0.70797	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.46451	2.15;2.2;2.92;0.87;2.3;2.33	5.91	5.91	0.95273	.	0.430704	0.28914	N	0.013721	T	0.30039	0.0752	N	0.24115	0.695	0.80722	D	1	B;B;B	0.19331	0.005;0.035;0.016	B;B;B	0.17979	0.003;0.02;0.006	T	0.06698	-1.0812	10	0.49607	T	0.09	.	11.2385	0.48955	0.0:0.8907:0.0:0.1093	.	1327;1706;1111	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	1111;1110;985;1707;1327;1345;1330	ENSP00000399423:R1111H;ENSP00000386491:R1110H;ENSP00000402944:R985H;ENSP00000345193:R1707H;ENSP00000394536:R1327H;ENSP00000294018:R1330H	ENSP00000294018:R1330H	R	-	2	0	SHANK2	69997055	0.959000	0.32827	0.856000	0.33681	0.994000	0.84299	2.264000	0.43302	2.799000	0.96334	0.650000	0.86243	CGT	SHANK2	-	NULL		0.637	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		C	NM_012309		70319407	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	missense	SNP	0.864	T	T	70319407	C	T	70319407	3	4	74	1	0	0	0	0	1	0	0	0	14295	536	19	2	436	2	SHANK2	11	70319407	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1801425	70319407	64687109	633	11328										
FZD4	8322	genome.wustl.edu	37	chr11	86665856	86665856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgcccacctgcagctggctgGagcagccgtactggatgagc	14	14	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:86665856G>C	ENST00000531380.1	-	1	577	c.272C>G	c.(271-273)tCc>tGc	p.S91C	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	91	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGCTGGCTGGAGCAGCCGTA	0.627																																																	0													22	23	23					11																	86665856		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.272C>G	11.37:g.86665856G>C	ENSP00000434034:p.Ser91Cys		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S91C	ENST00000531380.1	37	c.272	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083773	0.76642	.	.	ENSG00000174804	ENST00000531380	D	0.81499	-1.5	5.13	5.13	0.70059	Frizzled domain (5);	0.050469	0.85682	D	0.000000	D	0.92967	0.7762	H	0.95745	3.715	0.58432	D	0.999993	D	0.76494	0.999	D	0.77557	0.99	D	0.94865	0.8025	9	.	.	.	.	18.5332	0.91000	0.0:0.0:1.0:0.0	.	91	Q9ULV1	FZD4_HUMAN	C	91	ENSP00000434034:S91C	.	S	-	2	0	FZD4	86343504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.449000	0.35123	2.571000	0.86741	0.561000	0.74099	TCC	FZD4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.627	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	G	NM_012193		86665856	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86665856	G	C	86665856	3	2	74	1	0	0	0	0	1	0	0	0	6150	1174	41	1	1349	1	FZD4	11	86665856	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	16346449	86665856	48340660	634	11329										
FAT3	120114	genome.wustl.edu	37	chr11	92085607	92085607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttttctcagaataagaactaAaggtggcaattctgccatat	7	7	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:92085607A>C	ENST00000298047.6	+	1	346	c.329A>C	c.(328-330)aAa>aCa	p.K110T	FAT3_ENST00000409404.2_Missense_Mutation_p.K110T|FAT3_ENST00000541502.1_Missense_Mutation_p.K110T|FAT3_ENST00000525166.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAAGAACTAAAGGTGGCAAT	0.378										TCGA Ovarian(4;0.039)																																							0													58	57	58					11																	92085607		1816	4087	5903	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.329A>C	11.37:g.92085607A>C	ENSP00000298047:p.Lys110Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.K110T	ENST00000298047.6	37	c.329		11	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121078	0.77436	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.60040	0.22;0.22;0.22	5.53	5.53	0.82687	.	.	.	.	.	T	0.65471	0.2694	L	0.55103	1.725	0.46954	D	0.999268	D	0.57899	0.981	P	0.56278	0.795	T	0.61705	-0.7008	9	0.24483	T	0.36	.	15.1314	0.72527	1.0:0.0:0.0:0.0	.	110	Q8TDW7-3	.	T	110	ENSP00000298047:K110T;ENSP00000387040:K110T;ENSP00000443786:K110T	ENSP00000298047:K110T	K	+	2	0	FAT3	91725255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.210000	0.95106	2.225000	0.72522	0.533000	0.62120	AAA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		A	NM_001008781		92085607	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	C	C	92085607	A	C	92085607	3	2	74	1	0	0	0	0	1	0	0	0	5709	14	1	5	331	5	FAT3	11	92085607	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	5419751	92085607	42920909	635	11330										
HEPHL1	341208	genome.wustl.edu	37	chr11	93796772	93796772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctggccggtgagagaagaaTatgcacctactccagccgat	11	11	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:93796772T>A	ENST00000315765.9	+	3	522	c.514T>A	c.(514-516)Tat>Aat	p.Y172N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	172	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAGAGAAGAATATGCACCTAC	0.532																																																	0													70	73	72					11																	93796772		1960	4158	6118	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.514T>A	11.37:g.93796772T>A	ENSP00000313699:p.Tyr172Asn		Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.Y172N	ENST00000315765.9	37	c.514	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323767	0.60634	.	.	ENSG00000181333	ENST00000315765	D	0.98567	-5.0	5.42	4.3	0.51218	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.058158	0.64402	D	0.000001	D	0.95825	0.8641	N	0.20807	0.61	0.45930	D	0.998765	P	0.44044	0.825	P	0.48738	0.588	D	0.93554	0.6889	10	0.26408	T	0.33	.	11.1295	0.48339	0.0:0.0721:0.0:0.9278	.	172	Q6MZM0	HPHL1_HUMAN	N	172	ENSP00000313699:Y172N	ENSP00000313699:Y172N	Y	+	1	0	HEPHL1	93436420	1.000000	0.71417	0.773000	0.31616	0.683000	0.39861	6.036000	0.70948	0.910000	0.36722	0.533000	0.62120	TAT	HEPHL1	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	T	XM_291947		93796772	1	no_errors	ENST00000315765	ensembl	human	known	70_37	missense	SNP	0.998	A	A	93796772	T	A	93796772	3	1	74	1	0	0	0	0	1	0	0	0	7075	1406	49	5	524	5	HEPHL1	11	93796772	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1711165	93796772	41209744	636	11331										
ANGPTL5	253935	genome.wustl.edu	37	chr11	101762304	101762305	+	Frame_Shift_Ins	INS	-	-	G													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgcattttgattatcttctINStttttgagaccccggaatgc							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:101762304_101762305insG	ENST00000334289.3	-	9	1467_1468	c.872_873insC	c.(871-873)aaafs	p.K291fs		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	291	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.E292fs*30(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GATTATCTTCTTTTTTGAGACC	0.366																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	253935			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.872_873insC	11.37:g.101762304_101762305insG	ENSP00000335255:p.Lys291fs		A8K658|Q86VR9	Frame_Shift_Ins	INS	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.K291fs	ENST00000334289.3	37	c.873_872	CCDS8312.1	11																																																																																			ANGPTL5	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.366	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	-	NM_178127		101762305	-1	no_errors	ENST00000334289	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	G	G	101762305	-	G	101762304	7	5	74	1	0	1	1	0	0	0	0	0	617	1606	56	0	297	0	ANGPTL5	11	101762304	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	7965532	101762304	33244212	637	11332										
ALKBH8	91801	genome.wustl.edu	37	chr11	107431560	107431560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcttggctttaatctgtttCcttaagaacttcttctcagt	6	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:107431560C>T	ENST00000428149.2	-	2	211	c.60G>A	c.(58-60)agG>agA	p.R20R	ALKBH8_ENST00000417449.2_Silent_p.R23R|ALKBH8_ENST00000429370.1_Silent_p.R20R|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Silent_p.R20R	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	20					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TAATCTGTTTCCTTAAGAACT	0.348																																																	0													139	123	129					11																	107431560		2201	4298	6499	SO:0001819	synonymous_variant	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.60G>A	11.37:g.107431560C>T			B1Q2M0|B4DEF6|Q8N989	Silent	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.R23	ENST00000428149.2	37	c.69	CCDS8337.2	11																																																																																			ALKBH8	-	pfam_AlkB_hom8_N		0.348	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	C	NM_138775		107431560	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107431560	C	T	107431560	2	4	74	1	0	0	0	0	0	0	0	1	533	854	30	1		1	ALKBH8	11	107431560	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5669256	107431560	27574956	638	11333										
ATM	472	genome.wustl.edu	37	chr11	108150308	108150308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttttgaaaatgcatacttGaaagctcaggaaggaatgag	11	5	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:108150308G>C	ENST00000452508.2	+	24	3564	c.3375G>C	c.(3373-3375)ttG>ttC	p.L1125F	ATM_ENST00000278616.4_Missense_Mutation_p.L1125F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1125					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGCATACTTGAAAGCTCAGG	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													97	93	94					11																	108150308		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3375G>C	11.37:g.108150308G>C	ENSP00000388058:p.Leu1125Phe		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1125F	ENST00000452508.2	37	c.3375	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898358	0.33535	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	1.7	0.24286	Armadillo-type fold (1);	0.534882	0.19443	N	0.114131	T	0.49762	0.1576	L	0.38175	1.15	0.24408	N	0.994679	B	0.12013	0.005	B	0.14023	0.01	T	0.23726	-1.0180	10	0.09843	T	0.71	.	2.5155	0.04667	0.2011:0.2359:0.4431:0.1198	.	1125	Q13315	ATM_HUMAN	F	1125	ENSP00000435747:L1125F;ENSP00000278616:L1125F;ENSP00000388058:L1125F	ENSP00000278616:L1125F	L	+	3	2	ATM	107655518	0.997000	0.39634	0.010000	0.14722	0.818000	0.46254	0.558000	0.23469	0.053000	0.16036	0.585000	0.79938	TTG	ATM	-	superfamily_ARM-type_fold		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108150308	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	0.889	C	C	108150308	G	C	108150308	3	2	74	1	0	0	0	0	1	0	0	0	1110	1281	45	1	3461	1	ATM	11	108150308	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	718748	108150308	26856208	639	11334										
NCAM1	4684	genome.wustl.edu	37	chr11	113102431	113102431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcgctgaccctgaagagcaTccagtacactgatgccggag	12	12	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:113102431T>C	ENST00000533760.1	+	9	1369	c.770T>C	c.(769-771)aTc>aCc	p.I257T	NCAM1_ENST00000401611.2_Missense_Mutation_p.I384T|NCAM1_ENST00000316851.7_Missense_Mutation_p.I375T|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	385	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGAAGAGCATCCAGTACACT	0.582																																																	0													79	83	82					11																	113102431		2174	4280	6454	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.770T>C	11.37:g.113102431T>C	ENSP00000473281:p.Ile257Thr		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.I375T	ENST00000533760.1	37	c.1124		11	.	.	.	.	.	.	.	.	.	.	T	18.85	3.712183	0.68730	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.70164	-0.46;-0.46	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145674	0.46442	U	0.000282	T	0.65544	0.2701	.	.	.	0.80722	D	1	P;P;P;P	0.43094	0.692;0.799;0.536;0.551	B;B;B;B	0.42738	0.364;0.364;0.396;0.364	T	0.71434	-0.4594	9	0.72032	D	0.01	-38.685	14.6379	0.68702	0.0:0.0:0.0:1.0	.	385;375;385;375	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	T	257;384;375	ENSP00000384055:I384T;ENSP00000318472:I375T	ENSP00000318472:I375T	I	+	2	0	NCAM1	112607641	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.796000	0.85898	2.110000	0.64415	0.402000	0.26972	ATC	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	T	NM_000615		113102431	1	no_errors	ENST00000316851	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113102431	T	C	113102431	3	2	74	1	0	0	0	0	1	0	0	0	10226	1435	50	5	1193	5	NCAM1	11	113102431	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4952123	113102431	21904085	640	11335										
BUD13	84811	genome.wustl.edu	37	chr11	116628986	116628986	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctttcagtggttcccttaccCttttccccactgggcataca	6	15	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:116628986C>A	ENST00000260210.4	-	7	1521	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W	BUD13_ENST00000375445.3_Splice_Site_p.G366W	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	500					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTCCCTTACCCTTTTCCCCAC	0.453																																																	0													244	220	228					11																	116628986		2201	4296	6497	SO:0001630	splice_region_variant	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1499+1G>T	11.37:g.116628986C>A			A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.G500W	ENST00000260210.4	37	c.1498	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856882	0.91433	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.35048	1.39;1.33	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81360	-0.0968	10	0.87932	D	0	-25.9901	19.9823	0.97331	0.0:1.0:0.0:0.0	.	366;500	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	W	366;500	ENSP00000364594:G366W;ENSP00000260210:G500W	ENSP00000260210:G500W	G	-	1	0	BUD13	116134196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.258000	0.78371	2.788000	0.95919	0.650000	0.86243	GGG	BUD13	-	pfam_Bud13		0.453	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	C	NM_032725	Missense_Mutation	116628986	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116628986	C	A	116628986	5	1	74	1	0	0	0	0	0	0	1	0	1576	695	24	4	377	4	BUD13	11	116628986	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3526555	116628986	18377530	641	11336										
MLL	4297	genome.wustl.edu	37	chr11	118375513	118375513	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtaaccatcacagaaaaatCtgtagcctcctctgaaagtg	7	10	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:118375513C>G	ENST00000389506.5	+	27	8897	c.8897C>G	c.(8896-8898)tCt>tGt	p.S2966C	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2969C|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2928C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2966					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAGAAAAATCTGTAGCCTCC	0.512																																																	0													58	59	59					11																	118375513		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8897C>G	11.37:g.118375513C>G	ENSP00000374157:p.Ser2966Cys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S2966C	ENST00000389506.5	37	c.8897	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631785	0.29068	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83075	-1.68;-1.68;-1.65	6.05	5.13	0.70059	.	0.399758	0.29638	N	0.011583	T	0.79064	0.4383	L	0.40543	1.245	0.44221	D	0.997055	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.74699	-0.3577	10	0.72032	D	0.01	.	17.2995	0.87178	0.0:0.8747:0.1253:0.0	.	2969;2966	E9PQG7;Q03164	.;MLL1_HUMAN	C	2969;2966;2928;1876	ENSP00000436786:S2969C;ENSP00000374157:S2966C;ENSP00000346516:S2928C	ENSP00000346516:S2928C	S	+	2	0	MLL	117880723	0.997000	0.39634	0.327000	0.25402	0.966000	0.64601	3.330000	0.52068	1.533000	0.49186	0.655000	0.94253	TCT	MLL	-	pirsf_MeTrfase_trithorax		0.512	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118375513	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	0.996	G	G	118375513	C	G	118375513	3	3	74	1	0	0	0	0	1	0	0	0	9643	913	32	1	9003	1	MLL	11	118375513	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1746527	118375513	16631003	642	11337										
TBCEL	219899	genome.wustl.edu	37	chr11	120957533	120957533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaagttggagcctttggcaGaagtggacctaagaccccag	14	9	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:120957533G>A	ENST00000529397.1	+	8	1103	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	TBCEL_ENST00000422003.2_Missense_Mutation_p.E335K	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	335	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCCTTTGGCAGAAGTGGACCT	0.433																																																	0													97	89	92					11																	120957533		2203	4299	6502	SO:0001583	missense	219899			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1003G>A	11.37:g.120957533G>A	ENSP00000437184:p.Glu335Lys		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.E335K	ENST00000529397.1	37	c.1003	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245494	0.80024	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T	0.31247	1.5;1.5	5.76	5.76	0.90799	Ubiquitin supergroup (1);	0.092531	0.64402	D	0.000001	T	0.32466	0.0830	L	0.50333	1.59	0.58432	D	0.999997	P	0.36048	0.534	B	0.39185	0.293	T	0.05835	-1.0861	10	0.07644	T	0.81	-20.0247	19.9694	0.97278	0.0:0.0:1.0:0.0	.	335	Q5QJ74	TBCEL_HUMAN	K	335;335;102;138	ENSP00000437184:E335K;ENSP00000403925:E335K	ENSP00000403925:E335K	E	+	1	0	TBCEL	120462743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.352000	0.97076	2.719000	0.93026	0.655000	0.94253	GAA	TBCEL	-	pfscan_Ubiquitin_supergroup		0.433	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	G	NM_152715		120957533	1	no_errors	ENST00000422003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120957533	G	A	120957533	3	1	74	1	0	0	0	0	1	0	0	0	15665	943	33	1	1029	1	TBCEL	11	120957533	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2582020	120957533	14048983	643	11338										
OR10S1	219873	genome.wustl.edu	37	chr11	123847899	123847899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtggattgcagcgtgcgtgGcacctatggcccaggtgatt	15	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:123847899G>A	ENST00000531945.1	-	1	589	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCGTGCGTGGCACCTATGGC	0.557																																																	0													116	100	106					11																	123847899		2202	4299	6501	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.500C>T	11.37:g.123847899G>A	ENSP00000431914:p.Ala167Val		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A167V	ENST00000531945.1	37	c.500	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924039	0.34002	.	.	ENSG00000196248	ENST00000531945	T	0.00044	8.83	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.388421	0.18493	U	0.139594	T	0.00073	0.0002	N	0.04260	-0.245	0.09310	N	1	B	0.30326	0.276	B	0.32393	0.145	T	0.28427	-1.0044	10	0.28530	T	0.3	-11.9514	6.3464	0.21351	0.22:0.0:0.78:0.0	.	167	Q8NGN2	O10S1_HUMAN	V	167	ENSP00000431914:A167V	ENSP00000431914:A167V	A	-	2	0	OR10S1	123353109	0.000000	0.05858	0.353000	0.25747	0.334000	0.28698	0.720000	0.25896	2.577000	0.86979	0.573000	0.79308	GCC	OR10S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	G	NM_001004474		123847899	-1	no_errors	ENST00000531945	ensembl	human	known	70_37	missense	SNP	0.114	A	A	123847899	G	A	123847899	3	1	74	1	0	0	0	0	1	0	0	0	10942	1203	42	4	499	4	OR10S1	11	123847899	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2890366	123847899	11158617	644	11339										
OR10G9	219870	genome.wustl.edu	37	chr11	123893793	123893793	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccagggctggacgccccacTctttggaatcttcctggtgg	12	14	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:123893793T>A	ENST00000375024.1	+	1	74	c.74T>A	c.(73-75)cTc>cAc	p.L25H		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACGCCCCACTCTTTGGAATC	0.582																																																	0													209	194	199					11																	123893793		2201	4299	6500	SO:0001583	missense	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.74T>A	11.37:g.123893793T>A	ENSP00000364164:p.Leu25His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L25H	ENST00000375024.1	37	c.74	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843166	0.51057	.	.	ENSG00000236981	ENST00000375024	T	0.17691	2.26	3.33	3.33	0.38152	.	0.000000	0.43747	D	0.000532	T	0.38506	0.1043	M	0.83852	2.665	0.29907	N	0.823877	D	0.71674	0.998	D	0.66602	0.945	T	0.34750	-0.9816	10	0.66056	D	0.02	.	8.4118	0.32648	0.1747:0.0:0.0:0.8252	.	25	Q8NGN4	O10G9_HUMAN	H	25	ENSP00000364164:L25H	ENSP00000364164:L25H	L	+	2	0	OR10G9	123399003	0.014000	0.17966	0.252000	0.24328	0.018000	0.09664	0.954000	0.29175	1.512000	0.48834	0.533000	0.62120	CTC	OR10G9	-	prints_GPCR_Rhodpsn		0.582	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	T	NM_001001953		123893793	1	no_errors	ENST00000375024	ensembl	human	known	70_37	missense	SNP	0.836	A	A	123893793	T	A	123893793	3	1	74	1	0	0	0	0	1	0	0	0	10928	1551	54	5	76	5	OR10G9	11	123893793	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	45894	123893793	11112723	645	11340										
OR10G7	390265	genome.wustl.edu	37	chr11	123909484	123909484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcatcagcattttgggcacCgtgacagtggagaaccacat	11	10	2	2	rs138227924		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:123909484C>T	ENST00000330487.5	-	1	233	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTTTGGGCACCGTGACAGTGG	0.537																																																	0								C		1,4399	2.1+/-5.4	0,1,2199	101	109	107		225	-1.2	1	11	dbSNP_134	107	0,8594		0,0,4297	no	coding-synonymous	OR10G7	NM_001004463.1		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		75/312	123909484	1,12993	2200	4297	6497	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.225G>A	11.37:g.123909484C>T			Q6IFE8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T75	ENST00000330487.5	37	c.225	CCDS31705.1	11																																																																																			OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	C	NM_001004463		123909484	-1	no_errors	ENST00000330487	ensembl	human	known	70_37	silent	SNP	0.046	T	T	123909484	C	T	123909484	2	4	74	1	0	0	0	0	0	0	0	1	10926	639	23	2		2	OR10G7	11	123909484	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	15691	123909484	11097032	646	11341										
OR8B2	26595	genome.wustl.edu	37	chr11	124252641	124252641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tattagtacccacaacaatgAgaacaaccacctcgttgaca	5	12	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:124252641A>G	ENST00000375013.2	-	1	617	c.599T>C	c.(598-600)cTc>cCc	p.L200P		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACAACAATGAGAACAACCAC	0.433																																																	0													124	125	125					11																	124252641		2201	4299	6500	SO:0001583	missense	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.599T>C	11.37:g.124252641A>G	ENSP00000364152:p.Leu200Pro		Q8NGH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L200P	ENST00000375013.2	37	c.599	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	a	11.51	1.659697	0.29515	.	.	ENSG00000204293	ENST00000375013	T	0.00235	8.48	3.46	0.984	0.19773	GPCR, rhodopsin-like superfamily (1);	0.372870	0.22986	N	0.053247	T	0.00412	0.0013	M	0.82132	2.575	0.20638	N	0.999873	D	0.89917	1.0	D	0.91635	0.999	T	0.49995	-0.8879	10	0.87932	D	0	.	3.37	0.07217	0.5427:0.0:0.1042:0.3531	.	200	Q96RD0	OR8B2_HUMAN	P	200	ENSP00000364152:L200P	ENSP00000364152:L200P	L	-	2	0	OR8B2	123757851	0.115000	0.22152	0.000000	0.03702	0.015000	0.08874	2.214000	0.42853	0.072000	0.16694	0.329000	0.21502	CTC	OR8B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	A	NM_001005468		124252641	-1	no_errors	ENST00000375013	ensembl	human	known	70_37	missense	SNP	0.000	G	G	124252641	A	G	124252641	3	3	74	1	0	0	0	0	1	0	0	0	11251	304	11	5	345	5	OR8B2	11	124252641	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	343157	124252641	10753875	647	11342										
ROBO3	64221	genome.wustl.edu	37	chr11	124747913	124747913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcctgtctatagcaccattGacccagcgggggaggagctg	14	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:124747913G>T	ENST00000397801.1	+	21	3259	c.3067G>T	c.(3067-3069)Gac>Tac	p.D1023Y	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.D1001Y|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1023					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TAGCACCATTGACCCAGCGGG	0.627																																																	0													19	21	20					11																	124747913		1884	4095	5979	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3067G>T	11.37:g.124747913G>T	ENSP00000380903:p.Asp1023Tyr			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1023Y	ENST00000397801.1	37	c.3067	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884097	0.91814	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.69040	-0.37;-0.36	5.48	5.48	0.80851	.	0.000000	0.41194	D	0.000931	T	0.69415	0.3108	M	0.73217	2.22	0.80722	D	1	B	0.15141	0.012	B	0.14578	0.011	T	0.67753	-0.5589	10	0.87932	D	0	.	19.3464	0.94365	0.0:0.0:1.0:0.0	.	1023	Q96MS0	ROBO3_HUMAN	Y	1023;1001	ENSP00000380903:D1023Y;ENSP00000441797:D1001Y	ENSP00000380903:D1023Y	D	+	1	0	ROBO3	124253123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.196000	0.77805	2.566000	0.86566	0.655000	0.94253	GAC	ROBO3	-	NULL		0.627	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	G	XM_370663		124747913	1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124747913	G	T	124747913	3	4	74	1	0	0	0	0	1	0	0	0	13545	1290	45	3	3149	3	ROBO3	11	124747913	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	495272	124747913	10258603	648	11343										
DDX25	29118	genome.wustl.edu	37	chr11	125788628	125788628	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcagcgagcttccatcattCagaggtttcgggatgggaaa	13	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:125788628C>T	ENST00000263576.6	+	10	1299	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	382	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TTCCATCATTCAGAGGTTTCG	0.478																																																	0													120	114	116					11																	125788628		1929	4137	6066	SO:0001587	stop_gained	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1144C>T	11.37:g.125788628C>T	ENSP00000263576:p.Gln382*		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q382*	ENST00000263576.6	37	c.1144	CCDS44766.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.670964	0.96754	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	.	.	.	5.36	5.36	0.76844	.	0.193555	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-15.3715	13.5982	0.62002	0.0:0.844:0.156:0.0	.	.	.	.	X	268;382;248	.	ENSP00000263576:Q382X	Q	+	1	0	DDX25	125293838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.067000	0.57527	2.531000	0.85337	0.561000	0.74099	CAG	DDX25	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX25	HGNC	protein_coding	OTTHUMT00000386736.3	C	NM_013264		125788628	1	no_errors	ENST00000263576	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	125788628	C	T	125788628	4	4	74	1	0	0	0	0	0	1	0	0	4357	827	29	1	1182	1	DDX25	11	125788628	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1040715	125788628	9217888	649	11344										
CDON	50937	genome.wustl.edu	37	chr11	125853858	125853858	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acgcccagcacacagccaacGatcagatataacatgtcact	6	14	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:125853858G>A	ENST00000392693.3	-	16	3031	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	CDON_ENST00000263577.7_Silent_p.I968I|CDON_ENST00000531738.1_Silent_p.I345I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	968					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I968I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CACAGCCAACGATCAGATATA	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)											90	79	83					11																	125853858		2201	4299	6500	SO:0001819	synonymous_variant	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2904C>T	11.37:g.125853858G>A			O14631	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I968	ENST00000392693.3	37	c.2904	CCDS58192.1	11																																																																																			CDON	-	NULL		0.488	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125853858	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	silent	SNP	0.398	A	A	125853858	G	A	125853858	2	1	74	1	0	0	0	0	0	0	0	1	3175	1048	37	1		1	CDON	11	125853858	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	65230	125853858	9152658	650	11345										
KCNJ1	3758	genome.wustl.edu	37	chr11	128709383	128709383	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaagggctgttgtgatcaatGacatggtaaattgtcaatgg	12	4	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:128709383G>A	ENST00000392664.2	-	2	929	c.813C>T	c.(811-813)gtC>gtT	p.V271V	KCNJ1_ENST00000440599.2_Silent_p.V252V|KCNJ1_ENST00000392665.2_Silent_p.V252V|KCNJ1_ENST00000392666.1_Silent_p.V252V|KCNJ1_ENST00000324036.3_Silent_p.V252V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	271					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TGTGATCAATGACATGGTAAA	0.428																																																	0													79	80	80					11																	128709383		2201	4297	6498	SO:0001819	synonymous_variant	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.813C>T	11.37:g.128709383G>A			B2RMR4|Q6LD67	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir	p.V271	ENST00000392664.2	37	c.813	CCDS8476.1	11																																																																																			KCNJ1	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.428	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	KCNJ1	HGNC	protein_coding	OTTHUMT00000386233.1	G	NM_000220		128709383	-1	no_errors	ENST00000392664	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128709383	G	A	128709383	2	1	74	1	0	0	0	0	0	0	0	1	8063	1277	45	1		1	KCNJ1	11	128709383	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2855525	128709383	6297133	651	11346										
ARHGAP32	9743	genome.wustl.edu	37	chr11	128841051	128841051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaactggaactactccttGaacctattgaaagatgataa	8	7	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:128841051G>A	ENST00000310343.9	-	22	4014	c.4015C>T	c.(4015-4017)Caa>Taa	p.Q1339*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q990*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q990*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1339					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTACTCCTTGAACCTATTGA	0.443																																																	0													61	59	60					11																	128841051		2201	4297	6498	SO:0001587	stop_gained	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4015C>T	11.37:g.128841051G>A	ENSP00000310561:p.Gln1339*		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q1339*	ENST00000310343.9	37	c.4015	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.977088	0.97975	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	5.02	0.67125	.	0.734181	0.13222	N	0.404291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.682	0.40076	0.0756:0.1431:0.7813:0.0	.	.	.	.	X	1339;990;990	.	ENSP00000310561:Q1339X	Q	-	1	0	ARHGAP32	128346261	0.521000	0.26258	0.191000	0.23289	0.808000	0.45660	3.166000	0.50785	1.465000	0.48006	0.655000	0.94253	CAA	ARHGAP32	-	NULL		0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	G	NM_014715		128841051	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	nonsense	SNP	0.118	A	A	128841051	G	A	128841051	4	1	74	1	0	0	0	0	0	1	0	0	881	1299	45	1	2252	1	ARHGAP32	11	128841051	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	131668	128841051	6165465	652	11347										
CACNA1C	775	genome.wustl.edu	37	chr12	2706419	2706419	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgttttattttgatattgtTtttaccaccattttcaccat	3	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:2706419T>G	ENST00000347598.4	+	21	2817	c.2817T>G	c.(2815-2817)gtT>gtG	p.V939V	CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.V939V|CACNA1C_ENST00000399655.1_Silent_p.V939V|CACNA1C_ENST00000399638.1_Silent_p.V939V|CACNA1C_ENST00000399606.1_Silent_p.V939V|CACNA1C_ENST00000335762.5_Silent_p.V964V|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399595.1_Silent_p.V939V|CACNA1C_ENST00000399617.1_Silent_p.V939V|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000406454.3_Silent_p.V939V|CACNA1C_ENST00000399597.1_Silent_p.V939V|CACNA1C_ENST00000399634.1_Silent_p.V939V|CACNA1C_ENST00000399621.1_Silent_p.V939V|CACNA1C_ENST00000402845.3_Silent_p.V939V|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000344100.3_Silent_p.V939V|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399603.1_Silent_p.V939V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	939					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGATATTGTTTTTACCACCA	0.493																																																	0													182	186	185					12																	2706419		1875	4102	5977	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2817T>G	12.37:g.2706419T>G			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.V939	ENST00000347598.4	37	c.2817	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom		0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	T	NM_000719		2706419	1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	1.000	G	G	2706419	T	G	2706419	2	3	74	1	0	0	0	0	0	0	0	1	2545	1828	64	5		5	CACNA1C	12	2706419	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09		2706419	131145476	653	11348										
FKBP4	2288	genome.wustl.edu	37	chr12	2907010	2907011	+	Frame_Shift_Ins	INS	-	-	C													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggcagtcctccaaagattINSccccccaatgccacgcttgt							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:2907010_2907011insC	ENST00000001008.4	+	3	553_554	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	123	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTCCAAAGATTCCCCCCAATGC	0.554																																																	0																																										SO:0001589	frameshift_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.372dupC	12.37:g.2907016_2907016dupC	ENSP00000001008:p.Pro123fs		D3DUQ1|Q9UCP1|Q9UCV7	Frame_Shift_Ins	INS	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.N124fs	ENST00000001008.4	37	c.366_367	CCDS8512.1	12																																																																																			FKBP4	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.554	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	-			2907011	1	no_errors	ENST00000001008	ensembl	human	known	70_37	frame_shift_ins	INS	0.968:1.000	C	C	2907011	-	C	2907010	7	5	74	1	0	1	1	0	0	0	0	0	5928	1771	62	0	376	0	FKBP4	12	2907010	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	200591	2907010	130944885	654	11349										
RAD51AP1	10635	genome.wustl.edu	37	chr12	4657315	4657315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaataagtctcctcatatctCtaattgcagtgtagccagtg	8	9	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:4657315C>G	ENST00000544927.1	+	5	387	c.377C>G	c.(376-378)tCt>tGt	p.S126C	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S143C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S8C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S126C|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S143C					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CCTCATATCTCTAATTGCAGT	0.269																																																	0													76	85	82					12																	4657315		2201	4298	6499	SO:0001583	missense	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.377C>G	12.37:g.4657315C>G	ENSP00000446296:p.Ser126Cys			Missense_Mutation	SNP	NULL	p.S143C	ENST00000544927.1	37	c.428		12	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801512	0.70682	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	4.86	4.86	0.63082	.	0.437153	0.24571	N	0.037394	T	0.58452	0.2123	M	0.72894	2.215	0.45330	D	0.998323	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.61589	-0.7032	10	0.87932	D	0	-11.5514	13.3534	0.60615	0.0:1.0:0.0:0.0	.	8;143;143;126	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	C	143;8;143;126;126	ENSP00000323750:S143C;ENSP00000439960:S8C;ENSP00000228843:S143C;ENSP00000309479:S126C;ENSP00000446296:S126C	ENSP00000228843:S143C	S	+	2	0	RAD51AP1	4527576	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.619000	0.54196	2.518000	0.84900	0.591000	0.81541	TCT	RAD51AP1	-	NULL		0.269	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	RAD51AP1	HGNC	protein_coding	OTTHUMT00000399208.1	C	NM_006479		4657315	1	no_errors	ENST00000228843	ensembl	human	known	70_37	missense	SNP	0.998	G	G	4657315	C	G	4657315	3	3	74	1	0	0	0	0	1	0	0	0	13016	913	32	1	450	1	RAD51AP1	12	4657315	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1750305	4657315	129194580	655	11350										
PLEKHG6	55200	genome.wustl.edu	37	chr12	6425464	6425464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaatgtccccagcctgattcGaacccaccggagcttttggg	10	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:6425464G>A	ENST00000396988.3	+	7	880	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R185Q|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R217Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R217Q	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	217	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCCTGATTCGAACCCACCGG	0.622																																																	0													37	35	36					12																	6425464		2182	4257	6439	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.650G>A	12.37:g.6425464G>A	ENSP00000380185:p.Arg217Gln		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R217Q	ENST00000396988.3	37	c.650	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662892	0.67700	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.83	4.83	0.62350	Dbl homology (DH) domain (5);	0.342886	0.24757	N	0.035850	T	0.64427	0.2597	N	0.21508	0.67	0.80722	D	1	P;P;D	0.89917	0.744;0.744;1.0	B;B;D	0.71414	0.167;0.119;0.973	T	0.59685	-0.7408	10	0.25106	T	0.35	-16.1181	13.3031	0.60336	0.0:0.0:1.0:0.0	.	185;217;217	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	Q	217;217;217;185	ENSP00000011684:R217Q;ENSP00000442836:R217Q;ENSP00000380185:R217Q;ENSP00000393194:R185Q	ENSP00000011684:R217Q	R	+	2	0	PLEKHG6	6295725	0.999000	0.42202	0.980000	0.43619	0.705000	0.40729	2.447000	0.44917	2.509000	0.84616	0.561000	0.74099	CGA	PLEKHG6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.622	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	G	NM_018173		6425464	1	no_errors	ENST00000011684	ensembl	human	known	70_37	missense	SNP	0.994	A	A	6425464	G	A	6425464	3	1	74	1	0	0	0	0	1	0	0	0	12098	1058	37	1	718	1	PLEKHG6	12	6425464	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1768149	6425464	127426431	656	11351										
IFFO1	25900	genome.wustl.edu	37	chr12	6649649	6649649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcaagggggaggcaggtctCtatctcatggagctgtcaga	15	8	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:6649649C>T	ENST00000396840.2	-	9	1721	c.1680G>A	c.(1678-1680)taG>taA	p.*560*	IFFO1_ENST00000356896.4_Silent_p.*564*|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000436152.2_Silent_p.*257*|IFFO1_ENST00000336604.4_Silent_p.*563*|IFFO1_ENST00000465801.1_Silent_p.*256*			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	0						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGGCAGGTCTCTATCTCATGG	0.657																																																	0													55	54	54					12																	6649649		2203	4300	6503	SO:0001819	synonymous_variant	25900			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1680G>A	12.37:g.6649649C>T			Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	NULL	p.*564	ENST00000396840.2	37	c.1692		12																																																																																			IFFO1	-	NULL		0.657	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	C	NM_080730		6649649	-1	no_errors	ENST00000356896	ensembl	human	known	70_37	silent	SNP	0.999	T	T	6649649	C	T	6649649	2	4	74	1	0	0	0	0	0	0	0	1	7530	924	32	1		1	IFFO1	12	6649649	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	224185	6649649	127202246	657	11352										
LPAR5	57121	genome.wustl.edu	37	chr12	6730127	6730127	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctggaagatggcgcccgtCgtctggcacaggaggtcggg	17	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:6730127C>T	ENST00000329858.4	-	2	1044	c.288G>A	c.(286-288)acG>acA	p.T96T	LPAR5_ENST00000431922.1_Silent_p.T96T|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						TGGCGCCCGTCGTCTGGCACA	0.637																																					NSCLC(74;891 2312 37538)												0													37	30	33					12																	6730127		2203	4300	6503	SO:0001819	synonymous_variant	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.288G>A	12.37:g.6730127C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.T96	ENST00000329858.4	37	c.288	CCDS8553.1	12																																																																																			LPAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.637	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	HGNC	protein_coding	OTTHUMT00000400699.1	C	NM_020400		6730127	-1	no_errors	ENST00000329858	ensembl	human	known	70_37	silent	SNP	0.001	T	T	6730127	C	T	6730127	2	4	74	1	0	0	0	0	0	0	0	1	8931	871	31	1		1	LPAR5	12	6730127	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	80478	6730127	127121768	658	11353										
CLEC1B	51266	genome.wustl.edu	37	chr12	10151671	10151671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtttccgagttttaatatttAaggtgatgtatccatcttca	7	6	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:10151671A>G	ENST00000298527.6	-	1	208	c.29T>C	c.(28-30)tTa>tCa	p.L10S	CLEC1B_ENST00000348658.4_Missense_Mutation_p.L10S|CLEC1B_ENST00000428126.2_Missense_Mutation_p.L10S	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	10					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTAATATTTAAGGTGATGTA	0.358																																																	0													226	214	217					12																	10151671		1865	4098	5963	SO:0001583	missense	51266			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.29T>C	12.37:g.10151671A>G	ENSP00000298527:p.Leu10Ser		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L10S	ENST00000298527.6	37	c.29	CCDS41752.1	12	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657802	0.47467	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.03301	3.98;4.38;3.98	5.67	5.67	0.87782	.	0.000000	0.41396	D	0.000897	T	0.19967	0.0480	M	0.85197	2.74	0.29986	N	0.817275	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.976	T	0.08659	-1.0711	10	0.87932	D	0	.	12.3122	0.54935	1.0:0.0:0.0:0.0	.	10;10	Q9P126-2;Q9P126	.;CLC1B_HUMAN	S	10	ENSP00000406338:L10S;ENSP00000298527:L10S;ENSP00000327169:L10S	ENSP00000298527:L10S	L	-	2	0	CLEC1B	10042938	0.810000	0.29049	0.239000	0.24122	0.290000	0.27261	4.085000	0.57657	2.164000	0.68074	0.533000	0.62120	TTA	CLEC1B	-	NULL		0.358	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC1B	HGNC	protein_coding	OTTHUMT00000399922.1	A	NM_016509		10151671	-1	no_errors	ENST00000298527	ensembl	human	known	70_37	missense	SNP	0.813	G	G	10151671	A	G	10151671	3	3	74	1	0	0	0	0	1	0	0	0	3511	372	13	5	684	5	CLEC1B	12	10151671	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3421544	10151671	123700224	659	11354										
KLRC4	8302	genome.wustl.edu	37	chr12	10560365	10560365	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaatatgtaatccactcctCaggacaatggccacaatgac	8	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:10560365C>G	ENST00000309384.1	-	4	545	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	KLRC4-KLRK1_ENST00000539300.1_Nonstop_Mutation_p.*113S	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	122					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ATCCACTCCTCAGGACAATGG	0.328																																																	0													150	150	150					12																	10560365		2203	4300	6503	SO:0001583	missense	8302			U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"Killer cell lectin-like receptors"	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.364G>C	12.37:g.10560365C>G	ENSP00000310216:p.Glu122Gln		O60851	Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.E122Q	ENST00000309384.1	37	c.364	CCDS8624.1	12	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423425	0.25639	.	.	ENSG00000183542	ENST00000309384	T	0.04917	3.53	4.1	-3.68	0.04463	C-type lectin fold (1);C-type lectin-like (1);	1.147010	0.06525	N	0.740403	T	0.09992	0.0245	M	0.80183	2.485	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.43589	-0.9382	10	0.56958	D	0.05	.	6.3357	0.21294	0.0:0.5813:0.1687:0.25	.	122	O43908	NKG2F_HUMAN	Q	122	ENSP00000310216:E122Q	ENSP00000310216:E122Q	E	-	1	0	KLRC4	10451632	0.000000	0.05858	0.003000	0.11579	0.056000	0.15407	-0.363000	0.07593	-0.619000	0.05648	0.585000	0.79938	GAG	KLRC4	-	superfamily_C-type_lectin_fold		0.328	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRC4	HGNC	protein_coding	OTTHUMT00000400108.1	C	NM_013431		10560365	-1	no_errors	ENST00000309384	ensembl	human	known	70_37	missense	SNP	0.017	G	G	10560365	C	G	10560365	3	3	74	1	0	0	0	0	1	0	0	0	8438	835	29	1	116	1	KLRC4	12	10560365	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	408694	10560365	123291530	660	11355										
CSDA	8531	genome.wustl.edu	37	chr12	10862601	10862601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccgctgccggtactgagggCgatactgggggcggcgcagc	19	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:10862601C>T	ENST00000228251.4	-	6	886	c.686G>A	c.(685-687)cGc>cAc	p.R229H	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										GTACTGAGGGCGATACTGGGG	0.617																																																	0													31	35	34					12																	10862601		2203	4300	6503	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.686G>A	12.37:g.10862601C>T	ENSP00000228251:p.Arg229His		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.R229H	ENST00000228251.4	37	c.686	CCDS8630.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276153	0.80580	.	.	ENSG00000060138	ENST00000228251	T	0.27256	1.68	4.87	3.98	0.46160	.	0.263447	0.27739	N	0.018047	T	0.31009	0.0783	M	0.82823	2.61	0.31711	N	0.639517	P	0.50443	0.935	B	0.42916	0.402	T	0.45891	-0.9230	10	0.27785	T	0.31	.	9.0297	0.36252	0.0:0.8993:0.0:0.1007	.	229	P16989	DBPA_HUMAN	H	229	ENSP00000228251:R229H	ENSP00000228251:R229H	R	-	2	0	CSDA	10753868	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.484000	0.35508	1.408000	0.46895	0.655000	0.94253	CGC	CSDA	-	NULL		0.617	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSDA	HGNC	protein_coding	OTTHUMT00000399628.1	C	NM_003651		10862601	-1	no_errors	ENST00000228251	ensembl	human	known	70_37	missense	SNP	0.998	T	T	10862601	C	T	10862601	3	4	74	1	0	0	0	0	1	0	0	0	3932	768	27	2	448	2	CSDA	12	10862601	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	302236	10862601	122989294	661	11356										
GRIN2B	2904	genome.wustl.edu	37	chr12	13906621	13906621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagctgattctggatcttagAatctccatcgtccagggaca	10	10	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:13906621A>C	ENST00000609686.1	-	3	849	c.640T>G	c.(640-642)Tct>Gct	p.S214A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	214					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGATCTTAGAATCTCCATCG	0.473																																																	0													143	142	142					12																	13906621		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.640T>G	12.37:g.13906621A>C	ENSP00000477455:p.Ser214Ala		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S214A	ENST00000609686.1	37	c.640	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	A	2.629	-0.286825	0.05605	.	.	ENSG00000150086	ENST00000279593	D	0.90444	-2.67	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	N	0.05230	-0.09	0.54753	D	0.999986	B	0.09022	0.002	B	0.08055	0.003	T	0.73392	-0.3997	10	0.02654	T	1	.	15.2072	0.73190	1.0:0.0:0.0:0.0	.	214	Q13224	NMDE2_HUMAN	A	214	ENSP00000279593:S214A	ENSP00000279593:S214A	S	-	1	0	GRIN2B	13797888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.798000	0.62510	1.987000	0.57996	0.459000	0.35465	TCT	GRIN2B	-	pfam_ANF_lig-bd_rcpt		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	A			13906621	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13906621	A	C	13906621	3	2	74	1	0	0	0	0	1	0	0	0	6800	246	9	5	3858	5	GRIN2B	12	13906621	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3044020	13906621	119945274	662	11357										
PLCZ1	93661	genome.wustl.edu	37	chr12	18889263	18889263	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctctgaagtcatcctgaatCtttgacaaaaaccatgtaga	6	10	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:18889263C>G	ENST00000317658.3	+	0	0				PLCZ1_ENST00000539875.1_Missense_Mutation_p.K9N|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K7N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.K7N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K9N	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CATCCTGAATCTTTGACAAAA	0.299																																																	0													55	57	56					12																	18889263		2203	4300	6503	SO:0001631	upstream_gene_variant	89869			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889263C>G	Exception_encountered		Q969J0	Splice_Site	SNP	-	NULL	ENST00000317658.3	37	c.NULL	CCDS8681.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.141|6.141	0.394239|0.394239	0.11638|0.11638	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000539072|ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	.|T;T;T;T	.|0.47528	.|0.84;0.84;1.83;1.83	5.5|5.5	2.43|2.43	0.29744|0.29744	.|.	.|0.685183	.|0.14631	.|N	.|0.307821	.|T	.|0.27313	.|0.0670	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999994|0.999994	.|P	.|0.34909	.|0.475	.|B	.|0.31614	.|0.133	.|T	.|0.09640	.|-1.0665	.|10	.|0.13108	.|T	.|0.6	.|.	7.0564|7.0564	0.25102|0.25102	0.3232:0.4331:0.2436:0.0|0.3232:0.4331:0.2436:0.0	.|.	.|9	.|Q86YW0	.|PLCZ1_HUMAN	.|N	-1|9;7;7;9	.|ENSP00000266505:K9N;ENSP00000402358:K7N;ENSP00000400504:K7N;ENSP00000445026:K9N	.|ENSP00000266505:K9N	.|K	-|-	.|3	.|2	PLCZ1|PLCZ1	18780530|18780530	0.124000|0.124000	0.22315|0.22315	0.707000|0.707000	0.30419|0.30419	0.393000|0.393000	0.30537|0.30537	0.624000|0.624000	0.24462|0.24462	1.296000|1.296000	0.44742|0.44742	0.313000|0.313000	0.20887|0.20887	.|AAG	PLCZ1	-	-		0.299	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401902.1	C	NM_033328		18889263	-1	no_errors	ENST00000541109	ensembl	human	known	70_37	splice_site	SNP	0.250	G	G	18889263	C	G	18889263	1	3	74	0	1	0	0	0	0	0	0	0	12068	912	32	1		1	PLCZ1	12	18889263	5'Flank	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4982642	18889263	114962632	663	11358										
SLCO1B1	10599	genome.wustl.edu	37	chr12	21375257	21375257	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgttcaacctgaattgaaatCacttgcactgggtttccact	7	10	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:21375257C>T	ENST00000256958.2	+	13	1802	c.1706C>T	c.(1705-1707)tCa>tTa	p.S569L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	569					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GAATTGAAATCACTTGCACTG	0.254																																																	0													119	113	115					12																	21375257		2203	4300	6503	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1706C>T	12.37:g.21375257C>T	ENSP00000256958:p.Ser569Leu		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S569L	ENST00000256958.2	37	c.1706	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508555	0.64410	.	.	ENSG00000134538	ENST00000256958	T	0.60548	0.18	3.61	3.61	0.41365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.062767	0.64402	D	0.000003	T	0.79690	0.4489	M	0.93898	3.47	0.43803	D	0.996355	D	0.58970	0.984	D	0.68039	0.955	D	0.85007	0.0903	10	0.87932	D	0	.	12.5074	0.55989	0.0:1.0:0.0:0.0	.	569	Q9Y6L6	SO1B1_HUMAN	L	569	ENSP00000256958:S569L	ENSP00000256958:S569L	S	+	2	0	SLCO1B1	21266524	0.998000	0.40836	1.000000	0.80357	0.924000	0.55760	5.032000	0.64140	1.714000	0.51371	0.305000	0.20034	TCA	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.254	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	C	NM_006446		21375257	1	no_errors	ENST00000256958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21375257	C	T	21375257	3	4	74	1	0	0	0	0	1	0	0	0	14753	838	29	1	1752	1	SLCO1B1	12	21375257	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2485994	21375257	112476638	664	11359										
IFLTD1	160492	genome.wustl.edu	37	chr12	25679808	25679808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atatgatctccaattgccatTtctttgtcaagggaagagtt	8	7	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:25679808T>G	ENST00000282881.6	-	4	659	c.510A>C	c.(508-510)gaA>gaC	p.E170D	IFLTD1_ENST00000539744.1_Missense_Mutation_p.E73D|IFLTD1_ENST00000413632.2_Missense_Mutation_p.E191D|IFLTD1_ENST00000445693.1_Missense_Mutation_p.E107D|IFLTD1_ENST00000458174.2_Missense_Mutation_p.E191D	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		170	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CAATTGCCATTTCTTTGTCAA	0.378																																																	0													117	113	114					12																	25679808		2203	4300	6503	SO:0001583	missense	160492																														ENST00000282881.6:c.510A>C	12.37:g.25679808T>G	ENSP00000282881:p.Glu170Asp		B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.E191D	ENST00000282881.6	37	c.573	CCDS8704.1	12	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446935	0.25987	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.57	1.99	0.26369	Intermediate filament, C-terminal (1);	.	.	.	.	D	0.96024	0.8705	N	0.20483	0.58	0.20403	N	0.99991	P;P;D;D	0.89917	0.884;0.884;1.0;1.0	P;P;D;D	0.87578	0.586;0.509;0.996;0.998	D	0.89404	0.3698	9	0.11794	T	0.64	-20.3353	6.9171	0.24365	0.0:0.2672:0.0:0.7328	.	107;191;191;170	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	D	170;73;191;107;191;145;145	ENSP00000282881:E170D;ENSP00000443132:E73D;ENSP00000407353:E191D;ENSP00000407043:E107D;ENSP00000393150:E191D;ENSP00000442871:E145D;ENSP00000445242:E145D	ENSP00000282881:E170D	E	-	3	2	IFLTD1	25571075	0.452000	0.25713	0.239000	0.24122	0.168000	0.22595	0.539000	0.23175	0.106000	0.17784	-0.263000	0.10527	GAA	IFLTD1	-	pfam_Lamin_tail_dom		0.378	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	HGNC	protein_coding	OTTHUMT00000402279.1	T			25679808	-1	no_errors	ENST00000458174	ensembl	human	known	70_37	missense	SNP	0.257	G	G	25679808	T	G	25679808	3	3	74	1	0	0	0	0	1	0	0	0	7550	1838	64	5	676	5	IFLTD1	12	25679808	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4304551	25679808	108172087	665	11360										
ITPR2	3709	genome.wustl.edu	37	chr12	26774150	26774150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccatagctcagacttttctActgtcagtcgaagctggtct	8	12	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:26774150A>G	ENST00000381340.3	-	26	3784	c.3368T>C	c.(3367-3369)gTa>gCa	p.V1123A	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1123					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGACTTTTCTACTGTCAGTCG	0.418																																																	0													328	302	310					12																	26774150		1889	4127	6016	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3368T>C	12.37:g.26774150A>G	ENSP00000370744:p.Val1123Ala		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.V1123A	ENST00000381340.3	37	c.3368	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384263	0.82792	.	.	ENSG00000123104	ENST00000381340	D	0.93366	-3.21	4.82	4.82	0.62117	.	0.058263	0.64402	D	0.000002	D	0.95872	0.8656	M	0.84511	2.7	0.80722	D	1	D	0.61697	0.99	P	0.56127	0.792	D	0.96366	0.9270	10	0.66056	D	0.02	.	14.5562	0.68101	1.0:0.0:0.0:0.0	.	1123	Q14571	ITPR2_HUMAN	A	1123	ENSP00000370744:V1123A	ENSP00000370744:V1123A	V	-	2	0	ITPR2	26665417	1.000000	0.71417	0.875000	0.34327	0.715000	0.41141	9.087000	0.94110	2.024000	0.59613	0.528000	0.53228	GTA	ITPR2	-	superfamily_ARM-type_fold		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	A	NM_002223		26774150	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	0.998	G	G	26774150	A	G	26774150	3	3	74	1	0	0	0	0	1	0	0	0	7941	391	14	5	4865	5	ITPR2	12	26774150	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1094342	26774150	107077745	666	11361										
CCDC91	55297	genome.wustl.edu	37	chr12	28412327	28412327	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttttgatggtggaagtggtGaaacccaaacaacatctcct	9	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:28412327G>T	ENST00000545336.1	+	6	480	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	CCDC91_ENST00000381256.1_Nonsense_Mutation_p.E21*|CCDC91_ENST00000381259.1_Nonsense_Mutation_p.E21*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.E21*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	21					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGGAAGTGGTGAAACCCAAAC	0.388																																																	0													148	129	135					12																	28412327		2203	4300	6503	SO:0001587	stop_gained	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.61G>T	12.37:g.28412327G>T	ENSP00000438040:p.Glu21*		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Nonsense_Mutation	SNP	NULL	p.E21*	ENST00000545336.1	37	c.61	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.524036	0.96431	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256	.	.	.	5.57	5.57	0.84162	.	0.311442	0.27563	N	0.018814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.7485	16.7057	0.85371	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000370655:E21X	E	+	1	0	CCDC91	28303594	1.000000	0.71417	0.543000	0.28128	0.758000	0.43043	6.244000	0.72391	2.602000	0.87976	0.655000	0.94253	GAA	CCDC91	-	NULL		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	G	NM_018318		28412327	1	no_errors	ENST00000381259	ensembl	human	known	70_37	nonsense	SNP	0.990	T	T	28412327	G	T	28412327	4	4	74	1	0	0	0	0	0	1	0	0	2875	1291	45	3	67	3	CCDC91	12	28412327	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1638177	28412327	105439568	667	11362										
C12orf35	55196	genome.wustl.edu	37	chr12	32140196	32140196	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggaataaaaagtacaaaaGaagactggttaaaatttgtt	8	3	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:32140196G>T	ENST00000312561.4	+	5	5440	c.5026G>T	c.(5026-5028)Gaa>Taa	p.E1676*	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1676																	AAGTACAAAAGAAGACTGGTT	0.303																																																	0													58	60	60					12																	32140196		2203	4297	6500	SO:0001587	stop_gained	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5026G>T	12.37:g.32140196G>T	ENSP00000310338:p.Glu1676*		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.E1676*	ENST00000312561.4	37	c.5026	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	49	14.960016	0.99817	.	.	ENSG00000174718	ENST00000312561	.	.	.	4.86	3.97	0.46021	.	0.096474	0.45606	D	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5372	0.50645	0.0841:0.0:0.9159:0.0	.	.	.	.	X	1676	.	ENSP00000310338:E1676X	E	+	1	0	C12orf35	32031463	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.788000	0.47806	1.156000	0.42514	0.462000	0.41574	GAA	KIAA1551	-	NULL		0.303	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32140196	1	no_errors	ENST00000312561	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	32140196	G	T	32140196	4	4	74	1	0	0	0	0	0	1	0	0	1686	943	33	3	5032	3	C12orf35	12	32140196	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3727869	32140196	101711699	668	11363										
SYT10	341359	genome.wustl.edu	37	chr12	33529812	33529812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agggcaggatccttgactatCaaaactggtcgcccggccag	12	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:33529812C>G	ENST00000228567.3	-	7	1821	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	SYT10_ENST00000535526.1_Missense_Mutation_p.D328H	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	509					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCTTGACTATCAAAACTGGTC	0.413																																																	0													125	122	123					12																	33529812		2203	4300	6503	SO:0001583	missense	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1525G>C	12.37:g.33529812C>G	ENSP00000228567:p.Asp509His		Q495U2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D509H	ENST00000228567.3	37	c.1525	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566145	0.86439	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.52526	0.75;0.66	4.73	4.73	0.59995	.	0.000000	0.42682	U	0.000666	T	0.55816	0.1944	L	0.51422	1.61	0.80722	D	1	D	0.56746	0.977	P	0.52856	0.711	T	0.58730	-0.7585	10	0.54805	T	0.06	.	17.5852	0.87979	0.0:1.0:0.0:0.0	.	509	Q6XYQ8	SYT10_HUMAN	H	509;328	ENSP00000228567:D509H;ENSP00000438691:D328H	ENSP00000228567:D509H	D	-	1	0	SYT10	33421079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.539000	0.85634	0.655000	0.94253	GAT	SYT10	-	NULL		0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	C	NM_198992		33529812	-1	no_errors	ENST00000228567	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33529812	C	G	33529812	3	3	74	1	0	0	0	0	1	0	0	0	15496	826	29	1	50	1	SYT10	12	33529812	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1389616	33529812	100322083	669	11364										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43771178	43771178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtacaccgaccttgctccatTttccaactttccaagtggcc	6	15	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:43771178T>G	ENST00000389420.3	-	32	4984	c.4985A>C	c.(4984-4986)aAa>aCa	p.K1662T		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1662	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTGCTCCATTTTCCAACTTT	0.398																																																	0													75	70	72					12																	43771178		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4985A>C	12.37:g.43771178T>G	ENSP00000374071:p.Lys1662Thr		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1662T	ENST00000389420.3	37	c.4985	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	T	3.796	-0.042638	0.07452	.	.	ENSG00000173157	ENST00000389420	T	0.51817	0.69	4.99	2.58	0.30949	.	0.000000	0.53938	D	0.000060	T	0.49270	0.1547	L	0.45228	1.405	0.80722	D	1	D	0.55385	0.971	P	0.60012	0.867	T	0.37407	-0.9707	10	0.16896	T	0.51	.	8.022	0.30415	0.0:0.072:0.1372:0.7908	.	1662	P59510	ATS20_HUMAN	T	1662	ENSP00000374071:K1662T	ENSP00000374071:K1662T	K	-	2	0	ADAMTS20	42057445	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	1.687000	0.37680	0.440000	0.26502	0.533000	0.62120	AAA	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	T	NM_025003		43771178	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43771178	T	G	43771178	3	3	74	1	0	0	0	0	1	0	0	0	266	1841	64	5	778	5	ADAMTS20	12	43771178	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	10241366	43771178	90080717	670	11365										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43824240	43824240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cattgacacatttaacatctCgcatctgatacccatgtcca	4	13	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:43824240C>T	ENST00000389420.3	-	23	3295	c.3296G>A	c.(3295-3297)cGa>cAa	p.R1099Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1099Q|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R253Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1099	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1099L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTAACATCTCGCATCTGATA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											148	124	132					12																	43824240		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3296G>A	12.37:g.43824240C>T	ENSP00000374071:p.Arg1099Gln		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1099Q	ENST00000389420.3	37	c.3296	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	c	28.5	4.929163	0.92389	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000064	D	0.93910	0.8051	H	0.97315	3.98	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95422	0.8508	10	0.87932	D	0	.	19.8594	0.96778	0.0:1.0:0.0:0.0	.	1099;253	P59510;E9PBD5	ATS20_HUMAN;.	Q	1099;265;253;1099;1099	ENSP00000374071:R1099Q;ENSP00000447427:R265Q;ENSP00000378911:R253Q;ENSP00000448341:R1099Q	ENSP00000374068:R1099Q	R	-	2	0	ADAMTS20	42110507	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.225000	0.78051	2.869000	0.98440	0.556000	0.70494	CGA	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43824240	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43824240	C	T	43824240	3	4	74	1	0	0	0	0	1	0	0	0	266	884	31	1	2503	1	ADAMTS20	12	43824240	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	53062	43824240	90027655	671	11366										
ARID2	196528	genome.wustl.edu	37	chr12	46245685	46245685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aacaggtttacatgttcatgAacgtaaaattgaagtcatgg	9	5	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:46245685A>G	ENST00000334344.6	+	15	3951	c.3779A>G	c.(3778-3780)gAa>gGa	p.E1260G	ARID2_ENST00000444670.1_Missense_Mutation_p.E870G|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E1111G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1260					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGTTCATGAACGTAAAATT	0.433			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													69	64	66					12																	46245685		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3779A>G	12.37:g.46245685A>G	ENSP00000335044:p.Glu1260Gly		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E1260G	ENST00000334344.6	37	c.3779	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458848	0.63401	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.55413	0.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.66905	-0.5805	10	0.72032	D	0.01	-16.1568	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1260;870;1260	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	G	1260;377;377;1111;870	ENSP00000335044:E1260G	ENSP00000335044:E1260G	E	+	2	0	ARID2	44531952	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.690000	0.91272	2.371000	0.80710	0.533000	0.62120	GAA	ARID2	-	NULL		0.433	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	A	XM_350875		46245685	1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46245685	A	G	46245685	3	3	74	1	0	0	0	0	1	0	0	0	915	246	9	5	3837	5	ARID2	12	46245685	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2421445	46245685	87606210	672	11367										
LMBR1L	55716	genome.wustl.edu	37	chr12	49504305	49504305	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcgtggaatagctgttctcGcacggatagcacttcgtagt	11	10	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:49504305G>A	ENST00000267102.8	-	1	376	c.34C>T	c.(34-36)Cga>Tga	p.R12*	LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Nonsense_Mutation_p.R12*	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	12	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCTGTTCTCGCACGGATAGC	0.647																																																	0													80	83	82					12																	49504305		1984	4155	6139	SO:0001587	stop_gained	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.34C>T	12.37:g.49504305G>A	ENSP00000267102:p.Arg12*		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Nonsense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.R12*	ENST00000267102.8	37	c.34	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	G	38	6.671328	0.97751	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547675;ENST00000550137;ENST00000551782	.	.	.	5.56	5.56	0.83823	.	0.188342	0.43579	D	0.000546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4441	0.83910	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000267102:R12X	R	-	1	2	LMBR1L	47790572	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.596000	0.87737	0.563000	0.77884	CGA	LMBR1L	-	NULL		0.647	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	G	NM_018113		49504305	-1	no_errors	ENST00000267102	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49504305	G	A	49504305	4	1	74	1	0	0	0	0	0	1	0	0	8862	1095	38	2	1503	2	LMBR1L	12	49504305	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3258620	49504305	84347590	673	11368										
PRPH	5630	genome.wustl.edu	37	chr12	49691261	49691261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acagctaaaagaggagatggCgcggcacctgagggagtacc	15	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:49691261C>T	ENST00000257860.4	+	6	2617	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGGAGATGGCGCGGCACCTG	0.662											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26	28	27					12																	49691261		2203	4299	6502	SO:0001583	missense	5630				CCDS8783.1	12q12-q13	2013-01-16						"Intermediate filaments type III"	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1118C>T	12.37:g.49691261C>T	ENSP00000257860:p.Ala373Val	964	Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.A373V	ENST00000257860.4	37	c.1118	CCDS8783.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.439604	0.97568	.	.	ENSG00000135406	ENST00000257860	D	0.89343	-2.5	5.48	5.48	0.80851	Filament (1);	0.000000	0.39475	N	0.001352	D	0.95645	0.8584	M	0.92367	3.3	0.50313	D	0.999861	D	0.71674	0.998	D	0.66084	0.941	D	0.96317	0.9233	10	0.66056	D	0.02	.	18.1164	0.89556	0.0:1.0:0.0:0.0	.	373	P41219	PERI_HUMAN	V	373	ENSP00000257860:A373V	ENSP00000257860:A373V	A	+	2	0	PRPH	47977528	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.764000	0.85297	2.553000	0.86117	0.655000	0.94253	GCG	PRPH	-	pfam_F,prints_Keratin_I		0.662	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1	C	NM_006262		49691261	1	no_errors	ENST00000257860	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49691261	C	T	49691261	3	4	74	1	0	0	0	0	1	0	0	0	12603	768	27	2	1140	2	PRPH	12	49691261	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	186956	49691261	84160634	674	11369										
TMPRSS12	283471	genome.wustl.edu	37	chr12	51279034	51279034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attttttgttaacaggtaacGctacaaatattttacaagat	5	5	0	1	rs374684282	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:51279034G>A	ENST00000398458.3	+	4	690	c.658G>A	c.(658-660)Gct>Act	p.A220T	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.A220T	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AACAGGTAACGCTACAAATAT	0.323													G|||	3	0.000599042	0.0015	0	5008	,	,		18411	0		0.001	False		,,,				2504	0																0								G	THR/ALA	2,3634		0,2,1816	99	94	96		658	-6	0	12		96	0,8170		0,0,4085	no	missense	TMPRSS12	NM_182559.2	58	0,2,5901	AA,AG,GG		0.0,0.055,0.0169	benign	220/349	51279034	2,11804	1818	4085	5903	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.658G>A	12.37:g.51279034G>A	ENSP00000381476:p.Ala220Thr		B9ZVX2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A220T	ENST00000398458.3	37	c.658	CCDS44881.1	12	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620084	0.14193	5.5E-4	0.0	ENSG00000186452	ENST00000551456;ENST00000398458	D;T	0.88509	-2.39;0.29	5.2	-5.98	0.02220	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.677230	0.01143	N	0.006254	T	0.64724	0.2624	N	0.02169	-0.655	0.09310	N	1	B;B	0.28900	0.227;0.011	B;B	0.22601	0.04;0.004	T	0.65100	-0.6250	10	0.13108	T	0.6	0.7805	1.5064	0.02487	0.2852:0.112:0.3774:0.2254	.	220;220	F8WBX2;Q86WS5	.;TMPSC_HUMAN	T	220	ENSP00000447259:A220T;ENSP00000381476:A220T	ENSP00000381476:A220T	A	+	1	0	TMPRSS12	49565301	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.992000	0.03724	-0.640000	0.05495	-1.113000	0.02065	GCT	TMPRSS12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.323	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS12	HGNC	protein_coding	OTTHUMT00000404289.1	G	NM_182559		51279034	1	no_errors	ENST00000398458	ensembl	human	known	70_37	missense	SNP	0.000	A	A	51279034	G	A	51279034	3	1	74	1	0	0	0	0	1	0	0	0	16274	1087	38	2	672	2	TMPRSS12	12	51279034	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1587773	51279034	82572861	675	11370										
KRT1	3848	genome.wustl.edu	37	chr12	53069101	53069101	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctccagagctcccgccgccaGagccccggccgccagagctg	12	20	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:53069101G>A	ENST00000252244.3	-	9	1869	c.1811C>T	c.(1810-1812)tCt>tTt	p.S604F		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	604	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCCGCCGCCAGAGCCCCGgcc	0.697																																																	0													16	23	21					12																	53069101		2111	4120	6231	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1811C>T	12.37:g.53069101G>A	ENSP00000252244:p.Ser604Phe		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S604F	ENST00000252244.3	37	c.1811	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.426769	0.01117	.	.	ENSG00000167768	ENST00000252244	D	0.89875	-2.58	3.67	3.67	0.42095	.	.	.	.	.	T	0.80711	0.4675	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	P	0.47673	0.554	T	0.72221	-0.4356	9	0.87932	D	0	.	8.6535	0.34049	0.1121:0.0:0.8879:0.0	.	604	P04264	K2C1_HUMAN	F	604	ENSP00000252244:S604F	ENSP00000252244:S604F	S	-	2	0	KRT1	51355368	0.057000	0.20700	0.023000	0.16930	0.460000	0.32559	2.155000	0.42301	1.784000	0.52394	0.313000	0.20887	TCT	KRT1	-	NULL		0.697	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	G	NM_006121		53069101	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	0.059	A	A	53069101	G	A	53069101	3	1	74	1	0	0	0	0	1	0	0	0	8467	942	33	1	127	1	KRT1	12	53069101	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1790067	53069101	80782794	676	11371										
KRT1	3848	genome.wustl.edu	37	chr12	53071166	53071166	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atatcctcgtactgggccttGacctcagcaatgatgctgtc	9	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:53071166G>T	ENST00000252244.3	-	5	1120	c.1062C>A	c.(1060-1062)gtC>gtA	p.V354V		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	354	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ACTGGGCCTTGACCTCAGCAA	0.512																																																	0													130	120	124					12																	53071166		2203	4300	6503	SO:0001819	synonymous_variant	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1062C>A	12.37:g.53071166G>T			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V354	ENST00000252244.3	37	c.1062	CCDS8836.1	12																																																																																			KRT1	-	pfam_F		0.512	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	G	NM_006121		53071166	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	silent	SNP	0.224	T	T	53071166	G	T	53071166	2	4	74	1	0	0	0	0	0	0	0	1	8467	1277	45	3		3	KRT1	12	53071166	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2065	53071166	80780729	677	11372										
GTSF1	121355	genome.wustl.edu	37	chr12	54856430	54856430	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtagaggcagctcacctttAtcccagtcttcatcgcaagg	9	12	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:54856430A>C	ENST00000552397.1	-	5	1220	c.324T>G	c.(322-324)gaT>gaG	p.D108E	GTSF1_ENST00000305879.5_Missense_Mutation_p.D108E|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	108						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GCTCACCTTTATCCCAGTCTT	0.423																																																	0													129	132	131					12																	54856430		2203	4300	6503	SO:0001583	missense	121355			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.324T>G	12.37:g.54856430A>C	ENSP00000446485:p.Asp108Glu		B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.D108E	ENST00000552397.1	37	c.324	CCDS8881.1	12	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788799	0.31685	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.57273	0.41;0.41	5.83	0.91	0.19337	.	0.293130	0.38111	N	0.001817	T	0.29389	0.0732	N	0.19112	0.55	0.32440	N	0.546802	P	0.38617	0.64	B	0.32533	0.147	T	0.33624	-0.9861	10	0.28530	T	0.3	-20.8608	8.8477	0.35181	0.6247:0.0:0.3753:0.0	.	108	Q8WW33	GTSF1_HUMAN	E	108	ENSP00000446485:D108E;ENSP00000304185:D108E	ENSP00000304185:D108E	D	-	3	2	GTSF1	53142697	0.961000	0.32948	0.998000	0.56505	0.985000	0.73830	0.038000	0.13862	-0.069000	0.12931	0.533000	0.62120	GAT	GTSF1	-	NULL		0.423	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	HGNC	protein_coding	OTTHUMT00000406187.1	A	NM_144594		54856430	-1	no_errors	ENST00000546931	ensembl	human	known	70_37	missense	SNP	0.996	C	C	54856430	A	C	54856430	3	2	74	1	0	0	0	0	1	0	0	0	6906	446	16	5	195	5	GTSF1	12	54856430	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1785264	54856430	78995465	678	11373										
ZC3H10	84872	genome.wustl.edu	37	chr12	56515629	56515629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatcgcttcccagagcatgcGcatcacggccatgccacact	8	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:56515629G>A	ENST00000257940.2	+	3	1559	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	428							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGCATGCGCATCACGGCC	0.612																																																	0													75	58	64					12																	56515629		2203	4300	6503	SO:0001583	missense	84872			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1283G>A	12.37:g.56515629G>A	ENSP00000257940:p.Arg428His			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R428H	ENST00000257940.2	37	c.1283	CCDS8903.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955149	0.73902	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.19112	0.55	0.80722	D	1	B	0.33238	0.403	B	0.19391	0.025	T	0.47623	-0.9103	9	0.87932	D	0	-0.2796	19.059	0.93080	0.0:0.0:1.0:0.0	.	428	Q96K80	ZC3HA_HUMAN	H	428	.	ENSP00000257940:R428H	R	+	2	0	ZC3H10	54801896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.882000	0.98803	0.655000	0.94253	CGC	ZC3H10	-	NULL		0.612	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	G	NM_032786		56515629	1	no_errors	ENST00000257940	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56515629	G	A	56515629	3	1	74	1	0	0	0	0	1	0	0	0	17589	1087	38	2	1285	2	ZC3H10	12	56515629	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1659199	56515629	77336266	679	11374										
GLS2	27165	genome.wustl.edu	37	chr12	56873669	56873669	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggatctgatgtctgcagtCcagtggcctttagtgccttt	12	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:56873669C>G	ENST00000311966.4	-	3	577	c.299G>C	c.(298-300)gGa>gCa	p.G100A	GLS2_ENST00000539272.1_Missense_Mutation_p.G100A|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	100					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TGTCTGCAGTCCAGTGGCCTT	0.522																																																	0													79	68	72					12																	56873669		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.299G>C	12.37:g.56873669C>G	ENSP00000310447:p.Gly100Ala		B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.G100A	ENST00000311966.4	37	c.299	CCDS8921.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949006	0.92660	.	.	ENSG00000135423	ENST00000311966;ENST00000461077;ENST00000539272	T	0.73789	-0.78	4.98	4.98	0.66077	.	0.050381	0.85682	D	0.000000	D	0.85487	0.5708	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86746	0.1957	10	0.87932	D	0	-0.0314	17.5513	0.87876	0.0:1.0:0.0:0.0	.	100	Q9UI32	GLSL_HUMAN	A	100	ENSP00000310447:G100A	ENSP00000310447:G100A	G	-	2	0	GLS2	55159936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.189000	0.77747	2.758000	0.94735	0.655000	0.94253	GGA	GLS2	-	NULL		0.522	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	C	NM_013267		56873669	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56873669	C	G	56873669	3	3	74	1	0	0	0	0	1	0	0	0	6483	855	30	1	1573	1	GLS2	12	56873669	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	358040	56873669	76978226	680	11375										
DDIT3	1649	genome.wustl.edu	37	chr12	57910641	57910641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caatcagagctcggcgagtcGcctctacttccctggtcagg	11	14	3	1	rs568713877		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:57910641G>A	ENST00000346473.3	-	4	640	c.461C>T	c.(460-462)gCg>gTg	p.A154V	DDIT3_ENST00000547303.1_Missense_Mutation_p.A154V|DDIT3_ENST00000552740.1_Missense_Mutation_p.A177V|RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Missense_Mutation_p.A177V	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	154	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCGGCGAGTCGCCTCTACTTC	0.527			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)			Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	0													112	116	115					12																	57910641		2203	4300	6503	SO:0001583	missense	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.461C>T	12.37:g.57910641G>A	ENSP00000340671:p.Ala154Val		F8VS99	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP	p.A177V	ENST00000346473.3	37	c.530	CCDS8943.1	12	.	.	.	.	.	.	.	.	.	.	G	3.082	-0.188729	0.06299	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.75	0.646	0.17789	Basic-leucine zipper (bZIP) transcription factor (2);	0.556473	0.20350	N	0.094078	T	0.19248	0.0462	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.0	T	0.08229	-1.0732	10	0.37606	T	0.19	-3.0495	2.4777	0.04580	0.2824:0.1185:0.4776:0.1216	.	177;154	F8VS99;P35638	.;DDIT3_HUMAN	V	154;177;154;177	ENSP00000447188:A154V;ENSP00000448665:A177V;ENSP00000340671:A154V;ENSP00000447803:A177V	ENSP00000340671:A154V	A	-	2	0	DDIT3	56196908	0.325000	0.24660	0.236000	0.24074	0.054000	0.15201	1.260000	0.32968	0.475000	0.27415	-0.794000	0.03295	GCG	DDIT3	-	smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP		0.527	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT3	HGNC	protein_coding	OTTHUMT00000407137.1	G	NM_004083		57910641	-1	no_errors	ENST00000551116	ensembl	human	known	70_37	missense	SNP	0.043	A	A	57910641	G	A	57910641	3	1	74	1	0	0	0	0	1	0	0	0	4335	1087	38	2	52	2	DDIT3	12	57910641	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1036972	57910641	75941254	681	11376										
DTX3	196403	genome.wustl.edu	37	chr12	58001319	58001319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggatgctggtctctaaggacGccaccctcctactgcccagc	10	16	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:58001319G>A	ENST00000548198.1	+	3	2177	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DTX3_ENST00000548804.1_Missense_Mutation_p.A225T|DTX3_ENST00000551632.1_Missense_Mutation_p.A228T|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000337737.3_Missense_Mutation_p.A225T			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	225					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CTCTAAGGACGCCACCCTCCT	0.617																																																	0													65	70	69					12																	58001319		2042	4181	6223	SO:0001583	missense	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.673G>A	12.37:g.58001319G>A	ENSP00000447873:p.Ala225Thr		Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A228T	ENST00000548198.1	37	c.682	CCDS41800.1	12	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567355	0.28003	.	.	ENSG00000178498	ENST00000548804;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000550300	T;T;T;T;T	0.45276	2.03;2.03;2.03;2.03;0.9	4.29	2.28	0.28536	.	0.205253	0.42682	D	0.000667	T	0.19846	0.0477	N	0.19112	0.55	0.30727	N	0.747654	B	0.18968	0.032	B	0.17433	0.018	T	0.11792	-1.0573	10	0.10377	T	0.69	-12.7211	4.3458	0.11133	0.1132:0.0:0.5236:0.3632	.	225	Q8N9I9	DTX3_HUMAN	T	225;225;225;228;13	ENSP00000449294:A225T;ENSP00000338050:A225T;ENSP00000447873:A225T;ENSP00000448696:A228T;ENSP00000446996:A13T	ENSP00000338050:A225T	A	+	1	0	DTX3	56287586	0.738000	0.28186	0.999000	0.59377	0.997000	0.91878	1.086000	0.30853	2.110000	0.64415	0.561000	0.74099	GCC	DTX3	-	NULL		0.617	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	HGNC	protein_coding	OTTHUMT00000407848.1	G	NM_178502		58001319	1	no_errors	ENST00000551632	ensembl	human	known	70_37	missense	SNP	0.991	A	A	58001319	G	A	58001319	3	1	74	1	0	0	0	0	1	0	0	0	4805	1087	38	2	679	2	DTX3	12	58001319	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	90678	58001319	75850576	682	11377										
AVIL	10677	genome.wustl.edu	37	chr12	58201263	58201263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgccagctcatcctgtgaggCgtggcggccctgcaatggtg	15	12	1	1	rs146185696		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:58201263C>T	ENST00000257861.3	-	12	1772	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	AVIL_ENST00000550083.1_5'Flank|AVIL_ENST00000537081.1_Missense_Mutation_p.A441T|TSFM_ENST00000548851.1_Intron|RNU6-1083P_ENST00000384022.1_RNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	448	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCTGTGAGGCGTGGCGGCCC	0.622																																																	0													89	74	79					12																	58201263		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1342G>A	12.37:g.58201263C>T	ENSP00000257861:p.Ala448Thr		B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.A448T	ENST00000257861.3	37	c.1342	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475368	0.84640	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.23552	1.9;1.9	5.07	4.18	0.49190	Gelsolin domain (1);	0.050360	0.85682	N	0.000000	T	0.41971	0.1182	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.923;1.0	T	0.33854	-0.9852	10	0.87932	D	0	-20.987	12.7134	0.57102	0.0:0.9185:0.0:0.0815	.	441;448	O75366-2;O75366	.;AVIL_HUMAN	T	441;448	ENSP00000443207:A441T;ENSP00000257861:A448T	ENSP00000257861:A448T	A	-	1	0	AVIL	56487530	1.000000	0.71417	0.958000	0.39756	0.844000	0.47949	7.588000	0.82629	1.359000	0.45940	-0.291000	0.09656	GCC	AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin		0.622	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	C	NM_006576		58201263	-1	no_errors	ENST00000257861	ensembl	human	known	70_37	missense	SNP	0.999	T	T	58201263	C	T	58201263	3	4	74	1	0	0	0	0	1	0	0	0	1228	768	27	2	1149	2	AVIL	12	58201263	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	199944	58201263	75650632	683	11378										
SRGAP1	57522	genome.wustl.edu	37	chr12	64458903	64458903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcattctccatcaggtgtgCcaggtcagtgcccagcagcc	10	15	4	0	rs200749162		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:64458903C>T	ENST00000355086.3	+	8	1553	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	SRGAP1_ENST00000357825.3_Silent_p.C343C|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.C303C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	343	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.C343C(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAGGTGTGCCAGGTCAGTG	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)											91	67	75					12																	64458903		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1029C>T	12.37:g.64458903C>T			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.C343	ENST00000355086.3	37	c.1029	CCDS8967.1	12																																																																																			SRGAP1	-	superfamily_Fuc/Ara_isomerase_C		0.517	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	C			64458903	1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	0.999	T	T	64458903	C	T	64458903	2	4	74	1	0	0	0	0	0	0	0	1	15175	747	26	4		4	SRGAP1	12	64458903	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6257640	64458903	69392992	684	11379										
XPOT	11260	genome.wustl.edu	37	chr12	64813963	64813963	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtttactaattctgaagtGacgtgtcagtgccttgaagt	10	7	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:64813963G>A	ENST00000332707.5	+	7	1132	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	201	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATTCTGAAGTGACGTGTCAGT	0.353																																																	0													118	122	121					12																	64813963		2203	4300	6503	SO:0001819	synonymous_variant	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.603G>A	12.37:g.64813963G>A			A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.V201	ENST00000332707.5	37	c.603	CCDS31852.1	12																																																																																			XPOT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.353	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	G	NM_007235		64813963	1	no_errors	ENST00000332707	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64813963	G	A	64813963	2	1	74	1	0	0	0	0	0	0	0	1	17481	1277	45	1		1	XPOT	12	64813963	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	355060	64813963	69037932	685	11380										
TBK1	29110	genome.wustl.edu	37	chr12	64858234	64858234	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgaattcttaattgttttgCgagatgtgggtatgtttgtt	11	3	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:64858234C>T	ENST00000331710.5	+	4	688	c.349C>T	c.(349-351)Cga>Tga	p.R117*		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AATTGTTTTGCGAGATGTGGG	0.279																																																	0													119	118	118					12																	64858234		2203	4300	6503	SO:0001587	stop_gained	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.349C>T	12.37:g.64858234C>T	ENSP00000329967:p.Arg117*		A8K4S4|Q8IYV3|Q9NUJ5	Nonsense_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.R117*	ENST00000331710.5	37	c.349	CCDS8968.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.108193	0.97291	.	.	ENSG00000183735	ENST00000331710	.	.	.	5.29	4.28	0.50868	.	0.129039	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.344	13.1048	0.59241	0.2376:0.7624:0.0:0.0	.	.	.	.	X	117	.	.	R	+	1	2	TBK1	63144501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.143000	0.42187	2.660000	0.90430	0.650000	0.86243	CGA	TBK1	-	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		0.279	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	C	NM_013254		64858234	1	no_errors	ENST00000331710	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	64858234	C	T	64858234	4	4	74	1	0	0	0	0	0	1	0	0	15667	760	27	2	359	2	TBK1	12	64858234	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	44271	64858234	68993661	686	11381										
TMBIM4	51643	genome.wustl.edu	37	chr12	66539731	66539731	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaataatatatacatcataGaaagtaactgtaaaattaaa	4	3	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:66539731G>A	ENST00000358230.3	-	5	474	c.354C>T	c.(352-354)ttC>ttT	p.F118F	TMBIM4_ENST00000556010.1_Silent_p.F118F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Silent_p.F165F|TMBIM4_ENST00000542724.1_Silent_p.F87F|TMBIM4_ENST00000398033.4_Silent_p.F118F|TMBIM4_ENST00000539652.1_Silent_p.F118F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	118					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATACATCATAGAAAGTAACTG	0.294																																																	0													43	42	42					12																	66539731		1798	4053	5851	SO:0001819	synonymous_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.354C>T	12.37:g.66539731G>A			Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	pfam_Bax_inhibitor_1-related	p.F118	ENST00000358230.3	37	c.354	CCDS41805.1	12																																																																																			TMBIM4	-	pfam_Bax_inhibitor_1-related		0.294	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	G	NM_016056		66539731	-1	no_errors	ENST00000358230	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66539731	G	A	66539731	2	1	74	1	0	0	0	0	0	0	0	1	16012	933	33	1		1	TMBIM4	12	66539731	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1681497	66539731	67312164	687	11382										
CNOT2	4848	genome.wustl.edu	37	chr12	70729314	70729314	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggtaacccaactccattaaTaaaccccttggctggaagag	8	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:70729314T>G	ENST00000418359.3	+	9	1197	c.746T>G	c.(745-747)aTa>aGa	p.I249R	CNOT2_ENST00000229195.3_Missense_Mutation_p.I249R|CNOT2_ENST00000551483.1_De_novo_Start_InFrame	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	249					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACTCCATTAATAAACCCCTTG	0.413																																																	0													130	120	124					12																	70729314		2203	4300	6503	SO:0001583	missense	4848			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.746T>G	12.37:g.70729314T>G	ENSP00000412091:p.Ile249Arg		Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.I249R	ENST00000418359.3	37	c.746	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057483	0.36277	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000552483;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.37	5.37	0.77165	.	0.085614	0.85682	D	0.000000	T	0.57140	0.2033	N	0.22421	0.69	0.58432	D	0.999999	B	0.19445	0.036	B	0.15484	0.013	T	0.52756	-0.8533	10	0.22109	T	0.4	-10.832	15.6769	0.77336	0.0:0.0:0.0:1.0	.	249	Q9NZN8	CNOT2_HUMAN	R	249;249;249;112;188;103;240;249;59	ENSP00000450318:I249R;ENSP00000229195:I249R;ENSP00000412091:I249R;ENSP00000448490:I112R;ENSP00000447497:I188R;ENSP00000450077:I103R;ENSP00000449659:I240R;ENSP00000449260:I249R;ENSP00000448499:I59R	ENSP00000229195:I249R	I	+	2	0	CNOT2	69015581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.256000	0.51492	2.157000	0.67596	0.528000	0.53228	ATA	CNOT2	-	NULL		0.413	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	T			70729314	1	no_errors	ENST00000229195	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70729314	T	G	70729314	3	3	74	1	0	0	0	0	1	0	0	0	3624	1406	49	5	772	5	CNOT2	12	70729314	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4189583	70729314	63122581	688	11383										
LGR5	8549	genome.wustl.edu	37	chr12	71972642	71972642	+	Missense_Mutation	SNP	C	C	G													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgggttacatggtttaactCacttaaaattaacaggaaat							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:71972642C>G	ENST00000266674.5	+	15	1650	c.1339C>G	c.(1339-1341)Cac>Gac	p.H447D	LGR5_ENST00000540815.2_Missense_Mutation_p.H423D|LGR5_ENST00000536515.1_Missense_Mutation_p.H375D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	447					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGTTTAACTCACTTAAAATT	0.353																																																	0													156	149	151					12																	71972642		2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1339C>G	12.37:g.71972642C>G	ENSP00000266674:p.His447Asp		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.H447D	ENST00000266674.5	37	c.1339	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694316	0.88830	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.24723	5.49;1.84;1.84	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	T	0.58337	0.2115	M	0.85197	2.74	0.58432	D	0.999993	D;D	0.67145	0.995;0.996	D;D	0.70487	0.969;0.933	T	0.62642	-0.6811	10	0.87932	D	0	.	20.1438	0.98071	0.0:1.0:0.0:0.0	.	423;447	O75473-2;O75473	.;LGR5_HUMAN	D	447;447;375;423	ENSP00000266674:H447D;ENSP00000443033:H375D;ENSP00000441035:H423D	ENSP00000266674:H447D	H	+	1	0	LGR5	70258909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.135000	0.64777	2.768000	0.95171	0.650000	0.86243	CAC	LGR5	-	NULL		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71972642	1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71972642	C	G	71972642	3	3	74	1	0	0	0	0	1	0	0	0	8777	826	29	1	1397	1	LGR5	12	71972642	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1243328	71972642	61879253	689	11384	60	2								
LGR5	8549	genome.wustl.edu	37	chr12	71972644	71972644	+	Missense_Mutation	SNP	C	C	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggttacatggtttaactcaCttaaaattaacaggaaatca							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:71972644C>A	ENST00000266674.5	+	15	1652	c.1341C>A	c.(1339-1341)caC>caA	p.H447Q	LGR5_ENST00000540815.2_Missense_Mutation_p.H423Q|LGR5_ENST00000536515.1_Missense_Mutation_p.H375Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	447					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTTTAACTCACTTAAAATTAA	0.353																																																	0													152	144	147					12																	71972644		2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1341C>A	12.37:g.71972644C>A	ENSP00000266674:p.His447Gln		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.H447Q	ENST00000266674.5	37	c.1341	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351232	0.41700	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.24538	5.5;1.85;1.85	5.84	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.23133	0.0559	L	0.54323	1.7	0.42263	D	0.992025	P;P	0.37276	0.542;0.589	B;B	0.40375	0.327;0.175	T	0.02789	-1.1110	10	0.22109	T	0.4	.	5.5984	0.17339	0.0:0.7405:0.0:0.2595	.	423;447	O75473-2;O75473	.;LGR5_HUMAN	Q	447;447;375;423	ENSP00000266674:H447Q;ENSP00000443033:H375Q;ENSP00000441035:H423Q	ENSP00000266674:H447Q	H	+	3	2	LGR5	70258911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.399000	0.34566	2.768000	0.95171	0.650000	0.86243	CAC	LGR5	-	NULL		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71972644	1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71972644	C	A	71972644	3	1	74	1	0	0	0	0	1	0	0	0	8777	564	20	4	1399	4	LGR5	12	71972644	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2	71972644	61879251	690	11385	60	2								
NAV3	89795	genome.wustl.edu	37	chr12	78569092	78569092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccctctattgctagatcttcGcatcagaagacagcattcct	6	13	3	3	rs368252063		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:78569092G>A	ENST00000397909.2	+	25	5161	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NAV3_ENST00000228327.6_Missense_Mutation_p.R1663H|NAV3_ENST00000266692.7_Missense_Mutation_p.R1486H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1663H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1663						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGATCTTCGCATCAGAAGA	0.428										HNSCC(70;0.22)			G|||	1	0.000199681	8e-04	0	5008	,	,		18142	0		0	False		,,,				2504	0																0								G	HIS/ARG	0,3756		0,0,1878	104	96	99		4988	5.6	1	12		99	1,8215		0,1,4107	no	missense	NAV3	NM_014903.4	29	0,1,5985	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1663/2364	78569092	1,11971	1878	4108	5986	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4988G>A	12.37:g.78569092G>A	ENSP00000381007:p.Arg1663His		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1663H	ENST00000397909.2	37	c.4988		12	.	.	.	.	.	.	.	.	.	.	G	33	5.287589	0.95517	0.0	1.22E-4	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	.	0.000000	0.37348	U	0.002135	D	0.96999	0.9020	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.991;0.994;0.98;0.998	D	0.97031	0.9750	10	0.72032	D	0.01	-14.2634	20.0018	0.97417	0.0:0.0:1.0:0.0	.	1663;1486;1663;1663	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	H	1663;1663;1663;1486;284;292	ENSP00000446132:R1663H;ENSP00000381007:R1663H;ENSP00000228327:R1663H;ENSP00000266692:R1486H;ENSP00000448303:R292H	ENSP00000228327:R1663H	R	+	2	0	NAV3	77093223	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.901000	0.87382	2.793000	0.96121	0.655000	0.94253	CGC	NAV3	-	NULL		0.428	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78569092	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78569092	G	A	78569092	3	1	74	1	0	0	0	0	1	0	0	0	10208	1087	38	2	5086	2	NAV3	12	78569092	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6596448	78569092	55282803	691	11386										
C12orf64	283310	genome.wustl.edu	37	chr12	80735734	80735734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatattctttcaaggaatttGcaatgaagatccggatgatg	9	5	2	3	rs573951271		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:80735734G>T	ENST00000547103.1	+	43	5000	c.4994G>T	c.(4993-4995)tGc>tTc	p.C1665F	OTOGL_ENST00000458043.2_Missense_Mutation_p.C1677F|RN7SKP261_ENST00000410948.1_RNA			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1665	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAAGGAATTTGCAATGAAGAT	0.289																																																	0													31	29	29					12																	80735734		1802	4086	5888	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4994G>T	12.37:g.80735734G>T	ENSP00000447211:p.Cys1665Phe		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.C1677F	ENST00000547103.1	37	c.5030		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919934|2.919934	0.52653|0.52653	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.55413	.|0.52;0.52	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|.	.|.	.|.	.|.	T|T	0.67211|0.67211	0.2869|0.2869	M|M	0.74258|0.74258	2.255|2.255	0.43750|0.43750	D|D	0.996253|0.996253	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62586|0.62586	-0.6823|-0.6823	5|7	.|0.20519	.|T	.|0.43	.|.	18.7958|18.7958	0.91993|0.91993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|F	120|1665;1677	.|ENSP00000447211:C1665F;ENSP00000400895:C1677F	.|ENSP00000400895:C1677F	A|C	+|+	1|2	0|0	OTOGL|OTOGL	79259865|79259865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	7.580000|7.580000	0.82523|0.82523	2.520000|2.520000	0.84964|0.84964	0.650000|0.650000	0.86243|0.86243	GCA|TGC	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D		0.289	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	G	NM_173591		80735734	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80735734	G	T	80735734	3	4	74	1	0	0	0	0	1	0	0	0	1711	1319	46	4	5200	4	C12orf64	12	80735734	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2166642	80735734	53116161	692	11387										
C12orf64	283310	genome.wustl.edu	37	chr12	80764367	80764367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taggtagggagtacctggcaCtacaattgcaccacatatga	10	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:80764367C>A	ENST00000547103.1	+	55	6576	c.6570C>A	c.(6568-6570)caC>caA	p.H2190Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.H2202Q|OTOGL_ENST00000546620.1_Missense_Mutation_p.H221Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2190					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTACCTGGCACTACAATTGCA	0.308																																																	0													139	135	136					12																	80764367		2203	4300	6503	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6570C>A	12.37:g.80764367C>A	ENSP00000447211:p.His2190Gln		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.H2202Q	ENST00000547103.1	37	c.6606		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.35|12.35	1.912570|1.912570	0.33721|0.33721	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.40756|.	2.47;2.47;2.35;1.02|.	5.44|5.44	-0.0676|-0.0676	0.13759|0.13759	.|.	0.616711|.	0.15358|.	N|.	0.266578|.	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.40543|0.40543	1.245|1.245	0.23727|0.23727	N|N	0.997004|0.997004	B|.	0.29432|.	0.244|.	B|.	0.31751|.	0.135|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|5	0.22706|.	T|.	0.39|.	.|.	4.611|4.611	0.12402|0.12402	0.2677:0.4458:0.0:0.2865|0.2677:0.4458:0.0:0.2865	.|.	567|.	Q3ZCN5|.	OTOGL_HUMAN|.	Q|N	2190;2202;221;219|610	ENSP00000447211:H2190Q;ENSP00000400895:H2202Q;ENSP00000449094:H221Q;ENSP00000449641:H219Q|.	ENSP00000400895:H2202Q|.	H|T	+|+	3|2	2|0	OTOGL|OTOGL	79288498|79288498	0.895000|0.895000	0.30542|0.30542	0.988000|0.988000	0.46212|0.46212	0.268000|0.268000	0.26511|0.26511	-0.040000|-0.040000	0.12104|0.12104	0.291000|0.291000	0.22468|0.22468	0.591000|0.591000	0.81541|0.81541	CAC|ACT	OTOGL	-	NULL		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80764367	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.938	A	A	80764367	C	A	80764367	3	1	74	1	0	0	0	0	1	0	0	0	1711	564	20	4	6824	4	C12orf64	12	80764367	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	28633	80764367	53087528	693	11388										
LIN7A	8825	genome.wustl.edu	37	chr12	81283066	81283066	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaaactcactctgaagcacTtttttgagggattgtagctt	8	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:81283066T>A	ENST00000552864.1	-	2	367	c.165A>T	c.(163-165)aaA>aaT	p.K55N		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	55	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TCTGAAGCACTTTTTTGAGGG	0.348																																																	0													129	114	119					12																	81283066		2202	4299	6501	SO:0001583	missense	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.165A>T	12.37:g.81283066T>A	ENSP00000447488:p.Lys55Asn		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.K55N	ENST00000552864.1	37	c.165	CCDS9021.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.88|17.88	3.496441|3.496441	0.64186|0.64186	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552093|ENST00000552864;ENST00000549417	T|T;T	0.31247|0.28255	1.5|2.12;1.62	5.48|5.48	1.27|1.27	0.21489|0.21489	.|L27, C-terminal (1);L27 (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.22513|0.22513	0.0543|0.0543	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.19583	.|0.037	.|B	.|0.21360	.|0.034	T|T	0.06320|0.06320	-1.0833|-1.0833	8|10	0.72032|0.54805	D|T	0.01|0.06	-19.8574|-19.8574	9.4638|9.4638	0.38800|0.38800	0.0:0.4339:0.0:0.5661|0.0:0.4339:0.0:0.5661	.|.	.|55	.|O14910	.|LIN7A_HUMAN	M|N	21|55;49	ENSP00000448891:K21M|ENSP00000447488:K55N;ENSP00000448975:K49N	ENSP00000448891:K21M|ENSP00000261203:K55N	K|K	-|-	2|3	0|2	LIN7A|LIN7A	79807197|79807197	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.485000|0.485000	0.22324|0.22324	0.252000|0.252000	0.21531|0.21531	0.373000|0.373000	0.22412|0.22412	AAG|AAA	LIN7A	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27		0.348	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	T			81283066	-1	no_errors	ENST00000552864	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81283066	T	A	81283066	3	1	74	1	0	0	0	0	1	0	0	0	8831	1606	56	5	552	5	LIN7A	12	81283066	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	518699	81283066	52568829	694	11389										
TMTC3	160418	genome.wustl.edu	37	chr12	88586525	88586525	+	Frame_Shift_Del	DEL	A	A	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaagaaccaaatgaagccctAaaaaactttaatcgtgctct					rs201531208		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:88586525delA	ENST00000266712.6	+	13	2071	c.1851delA	c.(1849-1851)ctafs	p.L617fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	617					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATGAAGCCCTAAAAAACTTTA	0.333																																																	0													84	89	87					12																	88586525		2203	4299	6502	SO:0001589	frameshift_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1851delA	12.37:g.88586525delA	ENSP00000266712:p.Leu617fs		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N619fs	ENST00000266712.6	37	c.1851	CCDS9032.1	12																																																																																			TMTC3	-	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.333	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	A	NM_181783		88586525	1	no_errors	ENST00000266712	ensembl	human	known	70_37	frame_shift_del	DEL	0.393	-	-	88586525	A	-	88586525	7	5	74	1	0	1	0	1	0	0	0	0	16292	349	13	0	1897	0	TMTC3	12	88586525	Frame_Shift_Del	DEL	A	TCGA-EA-A3HU-01A-11D-A20U-09	7303459	88586525	45265370	695	11390										
PLEKHG7	440107	genome.wustl.edu	37	chr12	93162806	93162806	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tacaacacgaaaacagatatCgacagtgtatagcagcattc	7	9	0	1	rs368328583		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:93162806C>T	ENST00000344636.3	+	11	1166	c.982C>T	c.(982-984)Cga>Tga	p.R328*		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAACAGATATCGACAGTGTAT	0.318																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	89	86	87		982	4.8	0	12		87	0,8600		0,0,4300	no	stop-gained	PLEKHG7	NM_001004330.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		328/380	93162806	1,13005	2203	4300	6503	SO:0001587	stop_gained	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.982C>T	12.37:g.93162806C>T	ENSP00000344961:p.Arg328*		B2RNR7	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R328*	ENST00000344636.3	37	c.982	CCDS31873.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.472313	0.96274	2.27E-4	0.0	ENSG00000187510	ENST00000344636	.	.	.	5.68	4.79	0.61399	.	0.253277	0.39834	N	0.001241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-18.8685	13.7498	0.62901	0.0:0.9249:0.0:0.0751	.	.	.	.	X	328	.	ENSP00000344961:R328X	R	+	1	2	PLEKHG7	91686937	0.022000	0.18835	0.003000	0.11579	0.492000	0.33523	2.022000	0.41030	1.370000	0.46153	0.655000	0.94253	CGA	PLEKHG7	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.318	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG7	HGNC	protein_coding	OTTHUMT00000407288.1	C	NM_001004330		93162806	1	no_errors	ENST00000344636	ensembl	human	known	70_37	nonsense	SNP	0.928	T	T	93162806	C	T	93162806	4	4	74	1	0	0	0	0	0	1	0	0	12099	876	31	1	1020	1	PLEKHG7	12	93162806	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4576281	93162806	40689089	696	11391										
PAH	5053	genome.wustl.edu	37	chr12	103249048	103249048	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaaggacttcagagtcttgAacactgtgccccatgttttc	8	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:103249048A>C	ENST00000553106.1	-	6	1044	c.572T>G	c.(571-573)tTc>tGc	p.F191C	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.F186C	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	191					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGAGTCTTGAACACTGTGCC	0.433																																																	0													125	117	120					12																	103249048		2203	4300	6503	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.572T>G	12.37:g.103249048A>C	ENSP00000448059:p.Phe191Cys		Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.F191C	ENST00000553106.1	37	c.572	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130545	0.56828	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99727	-6.55;-6.55	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97412	1.0003	10	0.87932	D	0	-25.5532	16.0172	0.80450	1.0:0.0:0.0:0.0	.	191;191	B4DPN2;P00439	.;PH4H_HUMAN	C	191;186	ENSP00000448059:F191C;ENSP00000303500:F186C	ENSP00000303500:F186C	F	-	2	0	PAH	101773178	1.000000	0.71417	0.995000	0.50966	0.019000	0.09904	9.339000	0.96797	2.185000	0.69588	0.454000	0.30748	TTC	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra		0.433	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	A			103249048	-1	no_errors	ENST00000553106	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103249048	A	C	103249048	3	2	74	1	0	0	0	0	1	0	0	0	11418	246	9	5	818	5	PAH	12	103249048	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	10086242	103249048	30602847	697	11392										
PAH	5053	genome.wustl.edu	37	chr12	103288558	103288559	+	Frame_Shift_Ins	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctcatggacagtggcaccINSaatgtcatgcctcaagatct					rs199475570		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:103288558_103288559insA	ENST00000553106.1	-	3	778_779	c.306_307insT	c.(304-309)attggtfs	p.G103fs	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Frame_Shift_Ins_p.G98fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	103	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACAGTGGCACCAATGTCATGCC	0.386																																																	0			GRCh37	CM045080	PAH	M	rs144403519																																			SO:0001589	frameshift_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.307dupT	12.37:g.103288560_103288560dupA	ENSP00000448059:p.Gly103fs		Q16717|Q8TC14	Frame_Shift_Ins	INS	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.G102fs	ENST00000553106.1	37	c.307_306	CCDS9092.1	12																																																																																			PAH	-	pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra		0.386	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	-			103288559	-1	no_errors	ENST00000553106	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.982	A	A	103288559	-	A	103288558	7	5	74	1	0	1	1	0	0	0	0	0	11418	594	21	0	1095	0	PAH	12	103288558	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	39510	103288558	30563337	698	11393										
HCFC2	29915	genome.wustl.edu	37	chr12	104476567	104476567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaccaagaccaagagctggCcactgtgctgttgcaatcgg	12	11	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:104476567C>T	ENST00000229330.4	+	7	1055	c.951C>T	c.(949-951)ggC>ggT	p.G317G		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	317					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAGAGCTGGCCACTGTGCTG	0.408																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													77	79	78					12																	104476567		2203	4300	6503	SO:0001819	synonymous_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.951C>T	12.37:g.104476567C>T			B2R8Q5|C0H5X3	Silent	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G317	ENST00000229330.4	37	c.951	CCDS9097.1	12																																																																																			HCFC2	-	NULL		0.408	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	C	NM_013320		104476567	1	no_errors	ENST00000229330	ensembl	human	known	70_37	silent	SNP	0.607	T	T	104476567	C	T	104476567	2	4	74	1	0	0	0	0	0	0	0	1	7013	726	26	4		4	HCFC2	12	104476567	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1188009	104476567	29375328	699	11394										
RFX4	5992	genome.wustl.edu	37	chr12	107083095	107083095	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttattatgatgtacagaacaCactgtcagagaatactggac	8	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:107083095C>G	ENST00000392842.1	+	7	1036	c.622C>G	c.(622-624)Cac>Gac	p.H208D	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.H114D|RFX4_ENST00000357881.4_Missense_Mutation_p.H217D	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	208					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTACAGAACACACTGTCAGAG	0.398																																																	0													165	152	156					12																	107083095		2203	4300	6503	SO:0001583	missense	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.622C>G	12.37:g.107083095C>G	ENSP00000376585:p.His208Asp		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.H217D	ENST00000392842.1	37	c.649	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807074	0.90623	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000552866;ENST00000229387	T;T;D;D;T	0.90197	-1.03;-1.07;-2.63;-2.34;0.0	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.85197	2.74	0.80722	D	1	D;D;D;P	0.89917	1.0;0.96;0.96;0.932	D;D;D;P	0.83275	0.996;0.948;0.948;0.84	D	0.96332	0.9244	10	0.87932	D	0	-25.0261	19.2521	0.93929	0.0:1.0:0.0:0.0	.	114;217;217;208	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	D	208;217;217;153;114;114	ENSP00000376585:H208D;ENSP00000350552:H217D;ENSP00000448694:H153D;ENSP00000447904:H114D;ENSP00000229387:H114D	ENSP00000229387:H114D	H	+	1	0	RFX4	105607225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.542000	0.85734	0.655000	0.94253	CAC	RFX4	-	NULL		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	C	NM_032491		107083095	1	no_errors	ENST00000357881	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107083095	C	G	107083095	3	3	74	1	0	0	0	0	1	0	0	0	13295	478	17	4	821	4	RFX4	12	107083095	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2606528	107083095	26768800	700	11395										
USP30	84749	genome.wustl.edu	37	chr12	109505432	109505432	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctcatcatttgaagaacaGgtgagtacaacatttgaaca	7	7	2	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:109505432G>A	ENST00000257548.5	+	4	573	c.480G>A	c.(478-480)caG>caA	p.Q160Q	USP30_ENST00000392784.2_Splice_Site_p.Q129Q	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	160	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TTGAAGAACAGGTGAGTACAA	0.443																																																	0													155	141	146					12																	109505432		2203	4300	6503	SO:0001630	splice_region_variant	84749			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.480+1G>A	12.37:g.109505432G>A			Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q160	ENST00000257548.5	37	c.480	CCDS9123.2	12																																																																																			USP30	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.443	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	HGNC	protein_coding	OTTHUMT00000257733.2	G	NM_032663	Silent	109505432	1	no_errors	ENST00000257548	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109505432	G	A	109505432	5	1	74	1	0	0	0	0	0	0	1	0	17092	1014	35	4	494	4	USP30	12	109505432	Splice_Site	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2422337	109505432	24346463	701	11396										
TCHP	84260	genome.wustl.edu	37	chr12	110348891	110348891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcagacaggcggatcctgcaGgccctcctcgagaaggagga	15	12	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:110348891G>T	ENST00000312777.5	+	9	1117	c.903G>T	c.(901-903)caG>caT	p.Q301H	TCHP_ENST00000405876.4_Missense_Mutation_p.Q301H	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GGATCCTGCAGGCCCTCCTCG	0.657																																																	0													12	13	13					12																	110348891		2194	4281	6475	SO:0001583	missense	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.903G>T	12.37:g.110348891G>T	ENSP00000324404:p.Gln301His			Missense_Mutation	SNP	NULL	p.Q301H	ENST00000312777.5	37	c.903	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396320	0.42512	.	.	ENSG00000139437	ENST00000405876;ENST00000312777	T;T	0.10573	2.86;2.86	5.27	4.38	0.52667	.	0.322771	0.30510	N	0.009466	T	0.22936	0.0554	M	0.63428	1.95	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.00842	-1.1544	10	0.62326	D	0.03	-21.7476	7.013	0.24873	0.0881:0.0:0.7416:0.1703	.	301	Q9BT92	TCHP_HUMAN	H	301	ENSP00000384520:Q301H;ENSP00000324404:Q301H	ENSP00000324404:Q301H	Q	+	3	2	TCHP	108833274	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	2.499000	0.45372	1.223000	0.43536	0.561000	0.74099	CAG	TCHP	-	NULL		0.657	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	G	NM_032300		110348891	1	no_errors	ENST00000312777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110348891	G	T	110348891	3	4	74	1	0	0	0	0	1	0	0	0	15732	991	35	4	933	4	TCHP	12	110348891	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	843459	110348891	23503004	702	11397										
CUX2	23316	genome.wustl.edu	37	chr12	111758156	111758156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcaagtccgagatcggcgaCgccggctacttcgaccacca	11	15	1	1	rs370447580		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:111758156C>T	ENST00000261726.6	+	17	2497	c.2343C>T	c.(2341-2343)gaC>gaT	p.D781D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	781					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGATCGGCGACGCCGGCTACT	0.726																																																	0								C		1,3793		0,1,1896	24	31	29		2343	-6	0.9	12		29	0,7866		0,0,3933	no	coding-synonymous	CUX2	NM_015267.3		0,1,5829	TT,TC,CC		0.0,0.0264,0.0086		781/1487	111758156	1,11659	1897	3933	5830	SO:0001819	synonymous_variant	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2343C>T	12.37:g.111758156C>T			A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D781	ENST00000261726.6	37	c.2343	CCDS41837.1	12																																																																																			CUX2	-	NULL		0.726	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	C	NM_015267		111758156	1	no_errors	ENST00000261726	ensembl	human	known	70_37	silent	SNP	0.899	T	T	111758156	C	T	111758156	2	4	74	1	0	0	0	0	0	0	0	1	4070	535	19	2		2	CUX2	12	111758156	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1409265	111758156	22093739	703	11398										
BRAP	8315	genome.wustl.edu	37	chr12	112103478	112103478	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgctgtagacactggctgtgGaagctgtggttacataacgt	13	8	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:112103478G>T	ENST00000327551.6	-	6	911	c.771C>A	c.(769-771)ttC>ttA	p.F257L	BRAP_ENST00000539060.1_Missense_Mutation_p.F108L|BRAP_ENST00000419234.4_Missense_Mutation_p.F287L			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTGGCTGTGGAAGCTGTGGT	0.542																																					Pancreas(146;846 1904 7830 25130 26065)												0													132	90	104					12																	112103478		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.771C>A	12.37:g.112103478G>T	ENSP00000330813:p.Phe257Leu		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.F287L	ENST00000327551.6	37	c.861		12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129249	0.77549	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.61274	0.12;0.12;0.12	5.22	1.96	0.26148	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.963;0.999	D;D	0.83275	0.95;0.996	T	0.74402	-0.3677	10	0.62326	D	0.03	-13.8589	8.8854	0.35400	0.4346:0.0:0.5654:0.0	.	108;287	B4DRM1;Q7Z569	.;BRAP_HUMAN	L	287;108;257;69	ENSP00000403524:F287L;ENSP00000441659:F108L;ENSP00000330813:F257L	ENSP00000330813:F257L	F	-	3	2	BRAP	110587861	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.804000	0.27098	0.591000	0.29711	0.305000	0.20034	TTC	BRAP	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.542	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	G			112103478	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	missense	SNP	0.999	T	T	112103478	G	T	112103478	3	4	74	1	0	0	0	0	1	0	0	0	1500	1165	41	3	945	3	BRAP	12	112103478	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	345322	112103478	21748417	704	11399										
BRAP	8315	genome.wustl.edu	37	chr12	112103588	112103588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtccatcactgggaggctggCgccctacaggaaacacctca	11	14	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:112103588C>T	ENST00000327551.6	-	6	801	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	BRAP_ENST00000539060.1_Missense_Mutation_p.A72T|BRAP_ENST00000419234.4_Missense_Mutation_p.A251T			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GGGAGGCTGGCGCCCTACAGG	0.502																																					Pancreas(146;846 1904 7830 25130 26065)												0													109	80	90					12																	112103588		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.661G>A	12.37:g.112103588C>T	ENSP00000330813:p.Ala221Thr		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.A251T	ENST00000327551.6	37	c.751		12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261981	0.80358	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.48201	0.82;0.84;0.83	5.22	5.22	0.72569	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.926	T	0.66563	-0.5892	10	0.25751	T	0.34	-13.0857	18.7631	0.91860	0.0:1.0:0.0:0.0	.	72;251	B4DRM1;Q7Z569	.;BRAP_HUMAN	T	251;72;221;33	ENSP00000403524:A251T;ENSP00000441659:A72T;ENSP00000330813:A221T	ENSP00000330813:A221T	A	-	1	0	BRAP	110587971	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	7.332000	0.79203	2.431000	0.82371	0.305000	0.20034	GCC	BRAP	-	pfam_BRAP2		0.502	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	C			112103588	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112103588	C	T	112103588	3	4	74	1	0	0	0	0	1	0	0	0	1500	768	27	2	1055	2	BRAP	12	112103588	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	110	112103588	21748307	705	11400										
RPL6	6128	genome.wustl.edu	37	chr12	112844564	112844564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctctcaccttgcccctgtggCgtccagtgaggatgatcaga	11	13	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:112844564C>T	ENST00000424576.2	-	4	652	c.467G>A	c.(466-468)cGc>cAc	p.R156H	RPL6_ENST00000202773.9_Missense_Mutation_p.R156H	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	156					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GCCCCTGTGGCGTCCAGTGAG	0.572																																																	0													41	35	37					12																	112844564		2203	4300	6503	SO:0001583	missense	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.467G>A	12.37:g.112844564C>T	ENSP00000403172:p.Arg156His		Q2M3Q3|Q8WW97	Missense_Mutation	SNP	pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.R156H	ENST00000424576.2	37	c.467	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711351	0.48517	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000550238;ENST00000549847	T;T	0.37915	1.17;1.17	4.96	4.96	0.65561	Translation protein SH3-like, subgroup (1);	0.043084	0.85682	D	0.000000	T	0.40979	0.1139	M	0.64260	1.97	0.80722	D	1	B	0.18968	0.032	B	0.18263	0.021	T	0.38373	-0.9664	10	0.72032	D	0.01	.	18.2336	0.89942	0.0:1.0:0.0:0.0	.	156	Q02878	RL6_HUMAN	H	156;156;96;45;156	ENSP00000202773:R156H;ENSP00000403172:R156H	ENSP00000202773:R156H	R	-	2	0	RPL6	111328947	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	7.313000	0.78978	2.308000	0.77769	0.591000	0.81541	CGC	RPL6	-	superfamily_Translation_prot_SH3-like		0.572	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1	C			112844564	-1	no_errors	ENST00000202773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112844564	C	T	112844564	3	4	74	1	0	0	0	0	1	0	0	0	13628	768	27	2	415	2	RPL6	12	112844564	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	740976	112844564	21007331	706	11401										
RPH3A	22895	genome.wustl.edu	37	chr12	113307748	113307748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaactatgggcctcccgtgCgcagggcctccgaggcacga	14	14	0	0	rs145114678		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:113307748C>T	ENST00000389385.4	+	10	1197	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	RPH3A_ENST00000415485.3_Missense_Mutation_p.R234C|RPH3A_ENST00000543106.2_Missense_Mutation_p.R234C|RPH3A_ENST00000447659.2_Missense_Mutation_p.R185C|RPH3A_ENST00000548866.1_Missense_Mutation_p.R185C|RPH3A_ENST00000420983.2_Missense_Mutation_p.R234C|RPH3A_ENST00000551052.1_Missense_Mutation_p.R230C|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	234	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R230C(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCCTCCCGTGCGCAGGGCCTC	0.607																																																	1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	73	73	73		700,688	5.7	1	12	dbSNP_134	73	0,8600		0,0,4300	yes	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	234/695,230/691	113307748	2,13004	2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.700C>T	12.37:g.113307748C>T	ENSP00000374036:p.Arg234Cys		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.R234C	ENST00000389385.4	37	c.700	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735982	0.89482	4.54E-4	0.0	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.02;-0.03	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000007	T	0.76047	0.3933	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.993;0.993;0.997	T	0.77056	-0.2729	10	0.72032	D	0.01	.	16.7844	0.85570	0.0:1.0:0.0:0.0	.	185;234;234;230	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	C	234;234;185;230;234;185;234	ENSP00000440384:R234C;ENSP00000374036:R234C;ENSP00000413254:R185C;ENSP00000448297:R230C;ENSP00000405357:R234C;ENSP00000450347:R185C;ENSP00000408889:R234C	ENSP00000374036:R234C	R	+	1	0	RPH3A	111792131	0.993000	0.37304	0.991000	0.47740	0.734000	0.41952	3.549000	0.53681	2.709000	0.92574	0.655000	0.94253	CGC	RPH3A	-	NULL		0.607	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	C	NM_014954		113307748	1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113307748	C	T	113307748	3	4	74	1	0	0	0	0	1	0	0	0	13581	768	27	2	730	2	RPH3A	12	113307748	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	463184	113307748	20544147	707	11402										
RASAL1	8437	genome.wustl.edu	37	chr12	113546012	113546012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaagagaaatccactgatggCcaggtacttcacatcctgct	9	11	1	2	rs376380142		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:113546012C>T	ENST00000261729.5	-	15	1705	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.A465T|RASAL1_ENST00000548055.1_Missense_Mutation_p.A464T|RASAL1_ENST00000446861.3_Missense_Mutation_p.A464T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	464	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCACTGATGGCCAGGTACTTC	0.552																																																	0													57	48	51					12																	113546012		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1390G>A	12.37:g.113546012C>T	ENSP00000261729:p.Ala464Thr		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.A465T	ENST00000261729.5	37	c.1393	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776061	0.90195	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.054483	0.64402	D	0.000001	D	0.91432	0.7296	M	0.92219	3.285	0.80722	D	1	D;P;D;D;D;D;D	0.59767	0.978;0.909;0.973;0.978;0.983;0.986;0.973	P;P;P;P;P;D;P	0.64237	0.805;0.635;0.705;0.872;0.875;0.923;0.705	D	0.93537	0.6874	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	464;464;464;477;465;464;464	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	T	465;464;464;464	ENSP00000450244:A465T;ENSP00000261729:A464T;ENSP00000395920:A464T;ENSP00000448510:A464T	ENSP00000261729:A464T	A	-	1	0	RASAL1	112030395	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	4.346000	0.59367	2.323000	0.78572	0.555000	0.69702	GCC	RASAL1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.552	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	C	NM_004658		113546012	-1	no_errors	ENST00000546530	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113546012	C	T	113546012	3	4	74	1	0	0	0	0	1	0	0	0	13093	739	26	4	1056	4	RASAL1	12	113546012	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	238264	113546012	20305883	708	11403										
SLC24A6	80024	genome.wustl.edu	37	chr12	113753242	113753242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcatccttgtccgggtccaCgacggggactgtgaggagca	15	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:113753242C>T	ENST00000552014.1	-	12	1548	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	SLC8B1_ENST00000546737.1_Missense_Mutation_p.V289M|SLC8B1_ENST00000202831.3_Missense_Mutation_p.V345M|SLC8B1_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	345					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TCCGGGTCCACGACGGGGACT	0.617																																																	0													65	59	61					12																	113753242		2203	4299	6502	SO:0001583	missense	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1033G>A	12.37:g.113753242C>T	ENSP00000447091:p.Val345Met		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	pfam_NaCa_Exmemb	p.V345M	ENST00000552014.1	37	c.1033	CCDS31909.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702135	0.48307	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63096	0.01;0.01;-0.02	4.78	2.96	0.34315	.	0.151319	0.43579	N	0.000552	T	0.53094	0.1775	L	0.48877	1.53	0.58432	D	0.999998	P;P	0.47762	0.9;0.78	B;B	0.41135	0.348;0.21	T	0.51411	-0.8709	10	0.48119	T	0.1	.	10.7999	0.46483	0.0:0.8473:0.0:0.1527	.	345;50	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	M	345;345;289;289	ENSP00000447091:V345M;ENSP00000202831:V345M;ENSP00000450081:V289M	ENSP00000202831:V345M	V	-	1	0	SLC24A6	112237625	0.992000	0.36948	0.577000	0.28562	0.818000	0.46254	2.954000	0.49113	0.471000	0.27319	0.456000	0.33151	GTG	SLC24A6	-	NULL		0.617	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC24A6	HGNC	protein_coding	OTTHUMT00000404830.3	C	NM_024959		113753242	-1	no_errors	ENST00000202831	ensembl	human	known	70_37	missense	SNP	0.983	T	T	113753242	C	T	113753242	3	4	74	1	0	0	0	0	1	0	0	0	14500	536	19	2	745	2	SLC24A6	12	113753242	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	207230	113753242	20098653	709	11404										
FBXW8	26259	genome.wustl.edu	37	chr12	117426499	117426499	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaaatagttccagaaaccaGaaggtaccctgtggcagtag	11	8	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:117426499G>C	ENST00000309909.5	+	7	1146	c.1064G>C	c.(1063-1065)aGa>aCa	p.R355T	RP11-231I16.1_ENST00000548738.1_RNA|FBXW8_ENST00000455858.2_Missense_Mutation_p.R289T			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	355					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCAGAAACCAGAAGGTACCCT	0.483																																																	0													126	138	134					12																	117426499		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1064G>C	12.37:g.117426499G>C	ENSP00000310686:p.Arg355Thr		Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R355T	ENST00000309909.5	37	c.1064	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493705	0.12702	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.08282	3.12;3.11	5.9	4.1	0.47936	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.404780	0.26586	N	0.023553	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44605	-0.9317	10	0.13470	T	0.59	-3.8763	5.4128	0.16358	0.1299:0.1138:0.6389:0.1174	.	355;289	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	T	355;289;289	ENSP00000310686:R355T;ENSP00000389144:R289T	ENSP00000310686:R355T	R	+	2	0	FBXW8	115910882	0.002000	0.14202	0.704000	0.30370	0.424000	0.31475	0.141000	0.16076	0.853000	0.35312	0.655000	0.94253	AGA	FBXW8	-	superfamily_Quinonprotein_ADH-like		0.483	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	G	NM_012174		117426499	1	no_errors	ENST00000309909	ensembl	human	known	70_37	missense	SNP	0.240	C	C	117426499	G	C	117426499	3	2	74	1	0	0	0	0	1	0	0	0	5788	942	33	1	1090	1	FBXW8	12	117426499	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3673257	117426499	16425396	710	11405										
WDR66	144406	genome.wustl.edu	37	chr12	122437841	122437841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggacttcctgagactgctcGttactaaaggtaagcacata	9	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:122437841G>A	ENST00000288912.4	+	20	4080	c.3226G>A	c.(3226-3228)Gtt>Att	p.V1076I		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1076							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GAGACTGCTCGTTACTAAAGG	0.507																																					Esophageal Squamous(85;849 1794 49757 52143)												0													85	80	82					12																	122437841		1903	4130	6033	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3226G>A	12.37:g.122437841G>A	ENSP00000288912:p.Val1076Ile		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V1076I	ENST00000288912.4	37	c.3226	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	8.026	0.760778	0.15914	.	.	ENSG00000158023	ENST00000288912	T	0.79554	-1.28	5.31	1.38	0.22167	.	0.416724	0.23162	N	0.051226	T	0.57373	0.2049	N	0.08118	0	0.09310	N	0.999999	B	0.17268	0.021	B	0.04013	0.001	T	0.44298	-0.9337	10	0.36615	T	0.2	.	5.7473	0.18128	0.1293:0.529:0.2686:0.0731	.	1076	Q8TBY9	WDR66_HUMAN	I	1076	ENSP00000288912:V1076I	ENSP00000288912:V1076I	V	+	1	0	WDR66	120922224	0.004000	0.15560	0.000000	0.03702	0.650000	0.38633	1.436000	0.34980	-0.012000	0.14223	-0.165000	0.13383	GTT	WDR66	-	NULL		0.507	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	G	NM_144668		122437841	1	no_errors	ENST00000288912	ensembl	human	known	70_37	missense	SNP	0.032	A	A	122437841	G	A	122437841	3	1	74	1	0	0	0	0	1	0	0	0	17348	1145	40	2	3359	2	WDR66	12	122437841	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5011342	122437841	11414054	711	11406										
HIP1R	9026	genome.wustl.edu	37	chr12	123335842	123335842	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgagctgaagctttctgaatCaggtgagccgtaaagagggg	15	6	2	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:123335842C>G	ENST00000253083.4	+	7	700	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	192					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CTTTCTGAATCAGGTGAGCCG	0.478																																																	0													142	147	145					12																	123335842		2203	4300	6503	SO:0001587	stop_gained	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.575C>G	12.37:g.123335842C>G	ENSP00000253083:p.Ser192*		A6NHQ6|Q6NXG8|Q9UED9	Nonsense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S192*	ENST00000253083.4	37	c.575	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.031399	0.98013	.	.	ENSG00000130787	ENST00000253083	.	.	.	4.63	4.63	0.57726	.	0.218694	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-1.8117	17.4518	0.87594	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000253083:S192X	S	+	2	0	HIP1R	121901795	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	7.773000	0.85462	2.287000	0.76781	0.561000	0.74099	TCA	HIP1R	-	pfam_ANTH		0.478	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1	C	NM_003959		123335842	1	no_errors	ENST00000253083	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	123335842	C	G	123335842	4	3	74	1	0	0	0	0	0	1	0	0	7135	838	29	1	601	1	HIP1R	12	123335842	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	898001	123335842	10516053	712	11407										
NCOR2	9612	genome.wustl.edu	37	chr12	124832779	124832779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctccatcatgtcataggtgCgcttgggggcggccgtctca	13	13	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:124832779C>T	ENST00000405201.1	-	29	3926	c.3926G>A	c.(3925-3927)cGc>cAc	p.R1309H	NCOR2_ENST00000397355.1_Missense_Mutation_p.R1300H|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1299H|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1299H|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1316H|NCOR2_ENST00000404121.2_Missense_Mutation_p.R870H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1317					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCATAGGTGCGCTTGGGGGC	0.622											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40	47	45					12																	124832779		2034	4161	6195	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3926G>A	12.37:g.124832779C>T	ENSP00000384018:p.Arg1309His	1537	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1316H	ENST00000405201.1	37	c.3947	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621665	0.66787	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.60040	0.45;0.45;0.45;0.45;0.45;0.45;0.22	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.77851	-0.2434	10	0.87932	D	0	-28.9983	18.3091	0.90193	0.0:1.0:0.0:0.0	.	1299;1300;1309	C9J0Q5;C9J239;C9JFD3	.;.;.	H	1309;1299;1316;1300;1308;870;1299;1317	ENSP00000384018:R1309H;ENSP00000384202:R1299H;ENSP00000348551:R1316H;ENSP00000380513:R1300H;ENSP00000385618:R870H;ENSP00000400281:R1299H;ENSP00000402808:R1317H	ENSP00000348551:R1316H	R	-	2	0	NCOR2	123398732	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.764000	0.74960	2.318000	0.78349	0.561000	0.74099	CGC	NCOR2	-	NULL		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124832779	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124832779	C	T	124832779	3	4	74	1	0	0	0	0	1	0	0	0	10260	768	27	2	3694	2	NCOR2	12	124832779	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1496937	124832779	9019116	713	11408										
TMEM132B	114795	genome.wustl.edu	37	chr12	126139090	126139090	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggcccaaagaggaagagagTcaagttcacttcctacacca	10	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:126139090T>A	ENST00000299308.3	+	9	3079	c.3071T>A	c.(3070-3072)gTc>gAc	p.V1024D	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V536D	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1024						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGAAGAGAGTCAAGTTCACT	0.453																																																	0													64	62	63					12																	126139090		1886	4105	5991	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3071T>A	12.37:g.126139090T>A	ENSP00000299308:p.Val1024Asp		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.V1024D	ENST00000299308.3	37	c.3071	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299148	0.81025	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.28895	2.16;1.59	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000021	T	0.58438	0.2122	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63225	-0.6685	10	0.87932	D	0	.	16.1691	0.81790	0.0:0.0:0.0:1.0	.	1024	Q14DG7	T132B_HUMAN	D	1024;536	ENSP00000299308:V1024D;ENSP00000440436:V536D	ENSP00000299308:V1024D	V	+	2	0	TMEM132B	124705043	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.809000	0.86057	2.213000	0.71641	0.533000	0.62120	GTC	TMEM132B	-	NULL		0.453	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	T	NM_052907		126139090	1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126139090	T	A	126139090	3	1	74	1	0	0	0	0	1	0	0	0	16076	1667	58	5	3105	5	TMEM132B	12	126139090	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1306311	126139090	7712805	714	11409										
FZD10	11211	genome.wustl.edu	37	chr12	130648507	130648507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggttcctggccgccggcaaGaagtggggccacgaggccat	16	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:130648507G>A	ENST00000229030.4	+	1	1504	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	FZD10_ENST00000539839.1_Missense_Mutation_p.E308K|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	340					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCGGCAAGAAGTGGGGCC	0.647																																																	0													50	46	47					12																	130648507		2203	4300	6503	SO:0001819	synonymous_variant	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1020G>A	12.37:g.130648507G>A				Missense_Mutation	SNP	NULL	p.E308K	ENST00000229030.4	37	c.922	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953209	0.34471	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	4.2	0.49525	.	.	.	.	.	T	0.60235	0.2253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57774	-0.7753	4	.	.	.	.	9.8722	0.41182	0.2149:0.0:0.7851:0.0	.	.	.	.	K	308	.	.	E	+	1	0	FZD10	129214460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.607000	0.46300	2.374000	0.81015	0.561000	0.74099	GAA	FZD10	-	NULL		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		G			130648507	1	no_errors	ENST00000539839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130648507	G	A	130648507	2	1	74	1	0	0	0	0	0	0	0	1	6147	933	33	1		1	FZD10	12	130648507	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4509417	130648507	3203388	715	11410										
STX2	2054	genome.wustl.edu	37	chr12	131297555	131297555	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttgatttctttgttcagaTcttcaagctcttcttttatt	4	8	7	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:131297555T>A	ENST00000392373.2	-	4	321	c.227A>T	c.(226-228)gAt>gTt	p.D76V	RP11-989F5.3_ENST00000542821.1_lincRNA|RP11-989F5.1_ENST00000546264.1_lincRNA|snoU13_ENST00000459050.1_RNA|STX2_ENST00000261653.6_Missense_Mutation_p.D76V	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	76					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TTTGTTCAGATCTTCAAGCTC	0.259																																																	0													75	76	76					12																	131297555		2202	4296	6498	SO:0001583	missense	2054			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.227A>T	12.37:g.131297555T>A	ENSP00000376178:p.Asp76Val		Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D76V	ENST00000392373.2	37	c.227	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590389	0.46214	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.19532	2.14;2.14	4.26	4.26	0.50523	t-SNARE (1);Syntaxin, N-terminal (2);	0.315095	0.34178	N	0.004186	T	0.24624	0.0597	M	0.71036	2.16	0.46774	D	0.999193	P;B;B	0.34800	0.469;0.332;0.257	B;B;B	0.33121	0.117;0.075;0.158	T	0.06534	-1.0821	10	0.45353	T	0.12	-37.7758	12.655	0.56782	0.0:0.0:0.0:1.0	.	76;76;76	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	V	76	ENSP00000261653:D76V;ENSP00000376178:D76V	ENSP00000261653:D76V	D	-	2	0	STX2	129863508	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.588000	0.53964	1.916000	0.55485	0.533000	0.62120	GAT	STX2	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.259	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	T	NM_194356		131297555	-1	no_errors	ENST00000392373	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131297555	T	A	131297555	3	1	74	1	0	0	0	0	1	0	0	0	15375	1435	50	5	749	5	STX2	12	131297555	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	649048	131297555	2554340	716	11411										
ZMYM2	7750	genome.wustl.edu	37	chr13	20641000	20641000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttactaatagggagccaagAgaaaggctgtatcaggatac	11	6	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:20641000A>G	ENST00000382874.2	+	21	3332	c.3142A>G	c.(3142-3144)Aga>Gga	p.R1048G	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382869.3_Missense_Mutation_p.R1048G|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R1048G	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1048					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGGAGCCAAGAGAAAGGCTGT	0.338																																																	0													83	76	78					13																	20641000		1836	4081	5917	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3142A>G	13.37:g.20641000A>G	ENSP00000372327:p.Arg1048Gly		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R1048G	ENST00000382874.2	37	c.3142	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300473	0.60195	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.20332	2.08	5.06	5.06	0.68205	.	0.214319	0.50627	D	0.000107	T	0.29524	0.0736	L	0.43923	1.385	0.80722	D	1	D	0.55172	0.97	P	0.54346	0.749	T	0.02560	-1.1141	10	0.72032	D	0.01	-21.7861	10.9093	0.47099	0.8428:0.1571:0.0:0.0	.	1048	Q9UBW7	ZMYM2_HUMAN	G	1048;1048;1046;1046;426	ENSP00000372322:R1048G	ENSP00000372322:R1048G	R	+	1	2	ZMYM2	19539000	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.282000	0.65615	1.909000	0.55274	0.374000	0.22700	AGA	ZMYM2	-	NULL		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	A	NM_003453		20641000	1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20641000	A	G	20641000	3	3	74	1	0	0	0	0	1	0	0	0	17730	296	11	5	3212	5	ZMYM2	13	20641000	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09		20641000	94528878	717	11412										
SPATA13	221178	genome.wustl.edu	37	chr13	24798688	24798688	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctggtgaacattggtgtgGcagccggcccagaagaaaag	14	8	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:24798688G>A	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Missense_Mutation_p.A541T|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.A541T|SPATA13_ENST00000424834.2_Missense_Mutation_p.A541T|SPATA13_ENST00000474317.1_3'UTR	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CATTGGTGTGGCAGCCGGCCC	0.617																																																	0													23	29	27					13																	24798688		692	1591	2283	SO:0001627	intron_variant	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-24927G>A	13.37:g.24798688G>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A541T	ENST00000382095.4	37	c.1621	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.06|15.06	2.720324|2.720324	0.48728|0.48728	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	T|.	0.81247|.	-1.47|.	5.02|5.02	1.34|1.34	0.21922|0.21922	.|.	0.000000|.	0.37393|.	U|.	0.002113|.	T|T	0.33498|0.33498	0.0865|0.0865	L|L	0.34521|0.34521	1.04|1.04	0.19945|0.19945	N|N	0.999942|0.999942	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24225|0.24225	-1.0166|-1.0166	8|5	0.48119|.	T|.	0.1|.	.|.	9.0773|9.0773	0.36529|0.36529	0.2955:0.0:0.7045:0.0|0.2955:0.0:0.7045:0.0	.|.	.|.	.|.	.|.	T|D	541|578	ENSP00000371542:A541T|.	ENSP00000371542:A541T|.	A|G	+|+	1|2	0|0	SPATA13|SPATA13	23696688|23696688	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.507000|0.507000	0.22675|0.22675	-0.056000|-0.056000	0.13221|0.13221	0.585000|0.585000	0.79938|0.79938	GCA|GGC	SPATA13	-	NULL		0.617	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	G	NM_153023		24798688	1	no_errors	ENST00000382108	ensembl	human	known	70_37	missense	SNP	0.008	A	A	24798688	G	A	24798688	1	1	74	0	1	0	0	0	0	0	0	0	15030	1203	42	4		4	SPATA13	13	24798688	Intron	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4157688	24798688	90371190	718	11413										
ATP8A2	51761	genome.wustl.edu	37	chr13	26343298	26343298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggatgatccagacagcccaCgtgggtgtgggaatcagtgg	17	8	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:26343298C>T	ENST00000381655.2	+	26	2641	c.2499C>T	c.(2497-2499)caC>caT	p.H833H	ATP8A2_ENST00000255283.8_Silent_p.H793H|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	793					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H833H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGACAGCCCACGTGGGTGTGG	0.592																																																	1	Substitution - coding silent(1)	endometrium(1)											100	108	105					13																	26343298		2157	4248	6405	SO:0001819	synonymous_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2499C>T	13.37:g.26343298C>T			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.H833	ENST00000381655.2	37	c.2499	CCDS41873.1	13																																																																																			ATP8A2	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.592	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	C	NM_016529		26343298	1	no_errors	ENST00000381655	ensembl	human	known	70_37	silent	SNP	0.004	T	T	26343298	C	T	26343298	2	4	74	1	0	0	0	0	0	0	0	1	1194	535	19	2		2	ATP8A2	13	26343298	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1544610	26343298	88826580	719	11414										
BRCA2	675	genome.wustl.edu	37	chr13	32937456	32937456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatatctgaaacttctagcaAtaaaactagtagtgcagata	6	6	2	2	rs80359055	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:32937456A>G	ENST00000380152.3	+	18	8350	c.8117A>G	c.(8116-8118)aAt>aGt	p.N2706S	BRCA2_ENST00000544455.1_Missense_Mutation_p.N2706S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2706			N -> S. {ECO:0000269|PubMed:12442273}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTCTAGCAATAAAACTAGT	0.393			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A|||	4	0.000798722	0	0	5008	,	,		17830	0		0	False		,,,				2504	0.0041				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0			GRCh37	CM023610	BRCA2	M	rs80359055						119	117	118					13																	32937456		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8117A>G	13.37:g.32937456A>G	ENSP00000369497:p.Asn2706Ser		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.N2706S	ENST00000380152.3	37	c.8117	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.615453	0.00828	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80123	-1.34;-1.34	5.38	0.627	0.17675	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.560801	0.21303	N	0.076766	T	0.52853	0.1760	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.40040	-0.9584	10	0.09084	T	0.74	.	8.7839	0.34809	0.664:0.0:0.336:0.0	.	2706	P51587	BRCA2_HUMAN	S	2706	ENSP00000369497:N2706S;ENSP00000439902:N2706S	ENSP00000369497:N2706S	N	+	2	0	BRCA2	31835456	0.656000	0.27385	0.043000	0.18650	0.306000	0.27790	1.126000	0.31344	0.009000	0.14813	-0.456000	0.05471	AAT	BRCA2	-	pfam_BRCA2_OB_1,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	A	NM_000059		32937456	1	no_errors	ENST00000380152	ensembl	human	known	70_37	missense	SNP	0.027	G	G	32937456	A	G	32937456	3	3	74	1	0	0	0	0	1	0	0	0	1502	101	4	5	8183	5	BRCA2	13	32937456	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	6594158	32937456	82232422	720	11415										
MAB21L1	4081	genome.wustl.edu	37	chr13	36049347	36049347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacaccgccggcactgcaggCaggagataagttgcagcaaa	13	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36049347C>T	ENST00000379919.4	-	1	1485	c.929G>A	c.(928-930)tGc>tAc	p.C310Y	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	310					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GCACTGCAGGCAGGAGATAAG	0.537																																																	0													114	104	107					13																	36049347		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.929G>A	13.37:g.36049347C>T	ENSP00000369251:p.Cys310Tyr		Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.C310Y	ENST00000379919.4	37	c.929	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860065	0.71834	.	.	ENSG00000180660	ENST00000379919	T	0.16324	2.35	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.86805	2.84	0.80722	D	1	D	0.54964	0.969	D	0.73380	0.98	T	0.43475	-0.9389	10	0.33940	T	0.23	-19.2187	19.9576	0.97228	0.0:1.0:0.0:0.0	.	310	Q13394	MB211_HUMAN	Y	310	ENSP00000369251:C310Y	ENSP00000369251:C310Y	C	-	2	0	MAB21L1	34947347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	TGC	MAB21L1	-	pfam_Mab-21_dom		0.537	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	C	NM_005584		36049347	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36049347	C	T	36049347	3	4	74	1	0	0	0	0	1	0	0	0	9164	710	25	4	154	4	MAB21L1	13	36049347	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3111891	36049347	79120531	721	11416										
NBEA	26960	genome.wustl.edu	37	chr13	36129178	36129178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaatcttccaatatgactcaGcgctggcaaagaagggaaat	9	8	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36129178G>T	ENST00000400445.3	+	44	7395	c.6861G>T	c.(6859-6861)caG>caT	p.Q2287H	NBEA_ENST00000540320.1_Missense_Mutation_p.Q2287H|NBEA_ENST00000379939.2_Missense_Mutation_p.Q2284H|NBEA_ENST00000310336.4_Missense_Mutation_p.Q2287H|NBEA_ENST00000537702.1_Missense_Mutation_p.Q80H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2287	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATGACTCAGCGCTGGCAAA	0.338																																																	0													86	84	85					13																	36129178		1854	4092	5946	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6861G>T	13.37:g.36129178G>T	ENSP00000383295:p.Gln2287His		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Q2287H	ENST00000400445.3	37	c.6861	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613862	0.66672	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	4.84	3.98	0.46160	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.75085	2.285	0.80722	D	1	P;P	0.49358	0.502;0.923	B;P	0.48400	0.289;0.576	D	0.83606	0.0131	10	0.59425	D	0.04	.	9.763	0.40543	0.1601:0.0:0.8399:0.0	.	2287;2284	Q8NFP9;Q5T321	NBEA_HUMAN;.	H	2287;2287;2284;2287;914;80;80	ENSP00000440951:Q2287H;ENSP00000383295:Q2287H;ENSP00000369271:Q2284H;ENSP00000308534:Q2287H;ENSP00000440233:Q80H	ENSP00000308534:Q2287H	Q	+	3	2	NBEA	35027178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.938000	0.48987	2.222000	0.72286	0.655000	0.94253	CAG	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		36129178	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36129178	G	T	36129178	3	4	74	1	0	0	0	0	1	0	0	0	10210	962	34	4	7035	4	NBEA	13	36129178	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	79831	36129178	79040700	722	11417										
NBEA	26960	genome.wustl.edu	37	chr13	36229092	36229092	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtaacagcagataatcgctaTattcttatctgtggattctg	8	7	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36229092T>C	ENST00000400445.3	+	53	8607	c.8073T>C	c.(8071-8073)taT>taC	p.Y2691Y	NBEA_ENST00000540320.1_Silent_p.Y2691Y|NBEA_ENST00000379939.2_Silent_p.Y2688Y|NBEA_ENST00000310336.4_Silent_p.Y2691Y|NBEA_ENST00000379922.3_Silent_p.Y269Y|NBEA_ENST00000537702.1_Silent_p.Y484Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2691					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAATCGCTATATTCTTATCT	0.363																																																	0													92	89	90					13																	36229092		1857	4090	5947	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8073T>C	13.37:g.36229092T>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Y2691	ENST00000400445.3	37	c.8073	CCDS45026.1	13																																																																																			NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		T	NM_015678		36229092	1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	1.000	C	C	36229092	T	C	36229092	2	2	74	1	0	0	0	0	0	0	0	1	10210	1413	49	5		5	NBEA	13	36229092	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	99914	36229092	78940786	723	11418										
DCLK1	9201	genome.wustl.edu	37	chr13	36413287	36413287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actttggtggacgcaagtgaCgtagaggagccgccatgctg	15	9	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36413287C>T	ENST00000360631.3	-	7	1273	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	DCLK1_ENST00000379893.1_Silent_p.T47T|DCLK1_ENST00000255448.4_Silent_p.T354T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	354					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACGCAAGTGACGTAGAGGAGC	0.552																																																	0													65	49	54					13																	36413287		2203	4299	6502	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1062G>A	13.37:g.36413287C>T			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.T354	ENST00000360631.3	37	c.1062		13																																																																																			DCLK1	-	NULL		0.552	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	C	NM_004734		36413287	-1	no_errors	ENST00000360631	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36413287	C	T	36413287	2	4	74	1	0	0	0	0	0	0	0	1	4296	523	19	2		2	DCLK1	13	36413287	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	184195	36413287	78756591	724	11419										
FREM2	341640	genome.wustl.edu	37	chr13	39262583	39262583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctccattccagcctggccagGgctacttggtgagcaccgat	11	14	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:39262583G>T	ENST00000280481.7	+	1	1318	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	368					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCTGGCCAGGGCTACTTGGT	0.582																																																	0													111	106	107					13																	39262583		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1102G>T	13.37:g.39262583G>T	ENSP00000280481:p.Gly368Cys		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G368C	ENST00000280481.7	37	c.1102	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673592	0.67928	.	.	ENSG00000150893	ENST00000280481	T	0.43294	0.95	5.94	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76105	-0.3081	10	0.72032	D	0.01	.	15.4187	0.74995	0.0667:0.0:0.9333:0.0	.	368	Q5SZK8	FREM2_HUMAN	C	368	ENSP00000280481:G368C	ENSP00000280481:G368C	G	+	1	0	FREM2	38160583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	1.531000	0.49152	0.561000	0.74099	GGC	FREM2	-	NULL		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39262583	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39262583	G	T	39262583	3	4	74	1	0	0	0	0	1	0	0	0	6063	1232	43	4	1104	4	FREM2	13	39262583	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2849296	39262583	75907295	725	11420										
KBTBD7	84078	genome.wustl.edu	37	chr13	41768292	41768292	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttaactcctctggacccgtGaaaaaggccgaaaccgaggg	11	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:41768292G>A	ENST00000379483.3	-	1	410	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	34										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CTGGACCCGTGAAAAAGGCCG	0.637																																																	0													84	91	88					13																	41768292		2203	4300	6503	SO:0001819	synonymous_variant	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.102C>T	13.37:g.41768292G>A			B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F34	ENST00000379483.3	37	c.102	CCDS9377.1	13																																																																																			KBTBD7	-	pirsf_Kelch-like_gigaxonin		0.637	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	G	NM_032138		41768292	-1	no_errors	ENST00000379483	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41768292	G	A	41768292	2	1	74	1	0	0	0	0	0	0	0	1	8018	1281	45	1		1	KBTBD7	13	41768292	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2505709	41768292	73401586	726	11421										
DGKH	160851	genome.wustl.edu	37	chr13	42733412	42733412	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttttttttagtgtgtaaattCaaggctcacaaaagatgtgc	8	5	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:42733412C>G	ENST00000337343.4	+	6	654	c.633C>G	c.(631-633)ttC>ttG	p.F211L	DGKH_ENST00000379274.2_Missense_Mutation_p.F75L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.F75L|DGKH_ENST00000261491.5_Missense_Mutation_p.F211L|DGKH_ENST00000540693.1_Missense_Mutation_p.F211L|DGKH_ENST00000538674.1_Intron	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	211					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGTGTAAATTCAAGGCTCACA	0.348																																																	0													60	52	54					13																	42733412		2203	4300	6503	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.633C>G	13.37:g.42733412C>G	ENSP00000337572:p.Phe211Leu		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.F211L	ENST00000337343.4	37	c.633	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040672	0.75732	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;D;D;D;D	0.92099	-1.68;-2.97;-1.68;-2.97;-2.97	5.45	4.6	0.57074	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.91660	0.7364	N	0.25825	0.765	0.80722	D	1	P;D;B	0.63046	0.778;0.992;0.356	P;D;B	0.74674	0.498;0.984;0.398	D	0.90067	0.4160	10	0.38643	T	0.18	.	9.3184	0.37948	0.0:0.79:0.0:0.21	.	75;211;211	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	L	211;211;211;75;75	ENSP00000440823:F211L;ENSP00000337572:F211L;ENSP00000261491:F211L;ENSP00000368576:F75L;ENSP00000445114:F75L	ENSP00000261491:F211L	F	+	3	2	DGKH	41631412	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.687000	0.25407	1.263000	0.44181	0.655000	0.94253	TTC	DGKH	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.348	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	C	NM_178009		42733412	1	no_errors	ENST00000337343	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42733412	C	G	42733412	3	3	74	1	0	0	0	0	1	0	0	0	4480	825	29	1	655	1	DGKH	13	42733412	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	965120	42733412	72436466	727	11422										
AKAP11	11215	genome.wustl.edu	37	chr13	42877896	42877896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctgagcagtaccagcctgGcagccgacagtgggatcgga	15	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:42877896G>A	ENST00000025301.2	+	8	5189	c.5014G>A	c.(5014-5016)Gca>Aca	p.A1672T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1672					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TACCAGCCTGGCAGCCGACAG	0.502																																																	0													36	35	35					13																	42877896		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5014G>A	13.37:g.42877896G>A	ENSP00000025301:p.Ala1672Thr		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.A1672T	ENST00000025301.2	37	c.5014	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046615	0.19748	.	.	ENSG00000023516	ENST00000025301	T	0.52526	0.66	5.67	4.82	0.62117	.	0.268311	0.36409	N	0.002606	T	0.40094	0.1103	L	0.52364	1.645	0.30256	N	0.793659	B	0.30281	0.275	B	0.30495	0.116	T	0.35847	-0.9772	10	0.25106	T	0.35	.	10.8667	0.46860	0.1693:0.0:0.8307:0.0	.	1672	Q9UKA4	AKA11_HUMAN	T	1672	ENSP00000025301:A1672T	ENSP00000025301:A1672T	A	+	1	0	AKAP11	41775896	1.000000	0.71417	0.997000	0.53966	0.612000	0.37316	1.925000	0.40074	2.658000	0.90341	0.591000	0.81541	GCA	AKAP11	-	NULL		0.502	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	G	NM_016248		42877896	1	no_errors	ENST00000025301	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42877896	G	A	42877896	3	1	74	1	0	0	0	0	1	0	0	0	447	1203	42	4	5036	4	AKAP11	13	42877896	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	144484	42877896	72291982	728	11423										
C13orf18	80183	genome.wustl.edu	37	chr13	46936679	46936679	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagaagacagatacctcttaGaggagctgcaggaacagcta	11	9	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:46936679G>C	ENST00000429979.1	-	7	1584	c.980C>G	c.(979-981)tCt>tGt	p.S327C	KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S192C|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S260C|KIAA0226L_ENST00000378781.3_Intron|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S170C|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S327C|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S327C|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S327C|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S170C	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	327										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATACCTCTTAGAGGAGCTGCA	0.463																																																	0													79	75	77					13																	46936679		2203	4300	6503	SO:0001583	missense	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.980C>G	13.37:g.46936679G>C	ENSP00000396935:p.Ser327Cys		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.S327C	ENST00000429979.1	37	c.980	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874781	0.33069	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.48836	0.82;0.8;0.84;0.82;0.8;0.86	5.39	3.55	0.40652	.	0.634569	0.15396	N	0.264543	T	0.56470	0.1987	L	0.59436	1.845	0.09310	N	0.999996	D;D;D;D;D;D	0.76494	0.985;0.985;0.993;0.973;0.992;0.999	B;B;P;B;P;P	0.60236	0.43;0.43;0.628;0.43;0.794;0.871	T	0.44711	-0.9310	10	0.62326	D	0.03	-1.1927	7.796	0.29148	0.0:0.1752:0.6434:0.1814	.	170;170;327;192;260;327	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	C	327;327;260;327;327;170;170;192	ENSP00000396935:S327C;ENSP00000368074:S327C;ENSP00000368061:S260C;ENSP00000374558:S327C;ENSP00000368064:S327C;ENSP00000437501:S192C	ENSP00000315633:S170C	S	-	2	0	KIAA0226L	45834680	0.000000	0.05858	0.142000	0.22268	0.407000	0.30961	0.348000	0.20031	2.682000	0.91365	0.551000	0.68910	TCT	KIAA0226L	-	NULL		0.463	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	G	NM_025113		46936679	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	missense	SNP	0.033	C	C	46936679	G	C	46936679	3	2	74	1	0	0	0	0	1	0	0	0	1724	942	33	1	1044	1	C13orf18	13	46936679	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4058783	46936679	68233199	729	11424										
WDFY2	115825	genome.wustl.edu	37	chr13	52158943	52158943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccaaagaggagggcgtcatCagcgtctccgaggacaggta	14	11	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:52158943C>T	ENST00000298125.5	+	1	300	c.120C>T	c.(118-120)atC>atT	p.I40I	RNY1P6_ENST00000384193.1_RNA	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	40							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGGGCGTCATCAGCGTCTCCG	0.672											OREG0022422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	89	91					13																	52158943		2203	4300	6503	SO:0001819	synonymous_variant	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.120C>T	13.37:g.52158943C>T		982	B1AL86|Q96CS1	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I40	ENST00000298125.5	37	c.120	CCDS9429.1	13																																																																																			WDFY2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.672	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3	C	NM_052950		52158943	1	no_errors	ENST00000298125	ensembl	human	known	70_37	silent	SNP	1.000	T	T	52158943	C	T	52158943	2	4	74	1	0	0	0	0	0	0	0	1	17300	816	29	1		1	WDFY2	13	52158943	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5222264	52158943	63010935	730	11425										
DIAPH3	81624	genome.wustl.edu	37	chr13	60453485	60453485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttttgctcttctttatctCttcgcaggcagtactgacag	8	11	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:60453485C>G	ENST00000400324.4	-	21	2705	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	DIAPH3_ENST00000267215.4_Missense_Mutation_p.E829Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E829Q|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E783Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E818Q|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E759Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	829	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCTTTATCTCTTCGCAGGCA	0.453																																																	0													110	104	106					13																	60453485		1900	4121	6021	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2485G>C	13.37:g.60453485C>G	ENSP00000383178:p.Glu829Gln		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E829Q	ENST00000400324.4	37	c.2485	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734062	0.69189	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	5.97	4.21	0.49690	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.76938	2.355	0.47511	D	0.999446	B;P;P	0.52577	0.442;0.845;0.954	B;B;P	0.46758	0.086;0.385;0.526	T	0.30119	-0.9989	10	0.87932	D	0	.	12.2954	0.54842	0.0:0.8162:0.1187:0.065	.	566;566;829	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Q	829;829;818;783;759;818;759;783;829;566;829	ENSP00000383178:E829Q;ENSP00000383184:E829Q;ENSP00000367141:E818Q;ENSP00000383173:E759Q;ENSP00000383174:E783Q;ENSP00000267215:E829Q	ENSP00000267214:E566Q	E	-	1	0	DIAPH3	59351486	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.314000	0.51943	1.511000	0.48818	0.585000	0.79938	GAG	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.453	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	C	NM_001042517		60453485	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60453485	C	G	60453485	3	3	74	1	0	0	0	0	1	0	0	0	4530	922	32	1	1148	1	DIAPH3	13	60453485	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	8294542	60453485	54716393	731	11426										
PCDH9	5101	genome.wustl.edu	37	chr13	67477724	67477724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggaatattgtcacttttgCtgtgtgagttacactgaaag	10	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:67477724C>T	ENST00000377865.2	-	2	3184	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.S1017N|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	1017					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCACTTTTGCTGTGTGAGTT	0.413																																																	0													108	99	102					13																	67477724		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3050G>A	13.37:g.67477724C>T	ENSP00000367096:p.Ser1017Asn		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1017N	ENST00000377865.2	37	c.3050	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835643	0.32421	.	.	ENSG00000184226	ENST00000544246;ENST00000377865	T;T	0.51325	0.71;0.71	5.5	3.78	0.43462	.	0.245363	0.29362	N	0.012367	T	0.24547	0.0595	N	0.08118	0	0.80722	D	1	B;B	0.19445	0.036;0.031	B;B	0.15484	0.013;0.005	T	0.04065	-1.0980	10	0.26408	T	0.33	.	8.309	0.32060	0.0:0.8194:0.0:0.1806	.	1017;1017	B7ZM79;Q9HC56	.;PCDH9_HUMAN	N	1017	ENSP00000442186:S1017N;ENSP00000367096:S1017N	ENSP00000367096:S1017N	S	-	2	0	PCDH9	66375725	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.090000	0.15025	0.698000	0.31739	-0.140000	0.14226	AGC	PCDH9	-	NULL		0.413	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	C	NM_203487		67477724	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67477724	C	T	67477724	3	4	74	1	0	0	0	0	1	0	0	0	11542	797	28	4	675	4	PCDH9	13	67477724	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7024239	67477724	47692154	732	11427										
KLHL1	57626	genome.wustl.edu	37	chr13	70514243	70514243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcgaaggctcgaattcctaAacagttagatggatgcaaaa	10	7	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:70514243A>C	ENST00000377844.4	-	4	1702	c.943T>G	c.(943-945)Tta>Gta	p.L315V	KLHL1_ENST00000545028.1_Missense_Mutation_p.L122V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	315					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGAATTCCTAAACAGTTAGAT	0.453																																																	0													90	80	83					13																	70514243		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.943T>G	13.37:g.70514243A>C	ENSP00000367075:p.Leu315Val		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L315V	ENST00000377844.4	37	c.943	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883849	0.72410	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.73152	-0.72;-0.72	5.67	-0.774	0.10991	BTB/Kelch-associated (2);	0.000000	0.48286	D	0.000192	T	0.79528	0.4461	M	0.76574	2.34	0.34770	D	0.733631	D;D	0.76494	0.999;0.995	D;D	0.73380	0.98;0.951	T	0.82139	-0.0605	10	0.87932	D	0	.	9.8968	0.41322	0.668:0.0:0.332:0.0	.	315;315	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	315;122	ENSP00000367075:L315V;ENSP00000439602:L122V	ENSP00000367075:L315V	L	-	1	2	KLHL1	69412244	0.921000	0.31238	0.251000	0.24312	0.996000	0.88848	1.598000	0.36740	-0.108000	0.12066	0.455000	0.32223	TTA	KLHL1	-	pfam_BACK,smart_BACK		0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	A	NM_020866		70514243	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.821	C	C	70514243	A	C	70514243	3	2	74	1	0	0	0	0	1	0	0	0	8385	11	1	5	1335	5	KLHL1	13	70514243	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3036519	70514243	44655635	733	11428										
EDNRB	1910	genome.wustl.edu	37	chr13	78492486	78492486	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cggagatcctgccgtcctgtCtcctttaggcacctccgcag	10	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:78492486C>T	ENST00000334286.5	-	1	459	c.223G>A	c.(223-225)Gac>Aac	p.D75N	EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.D75N|EDNRB_ENST00000377211.4_Missense_Mutation_p.D165N|RNF219-AS1_ENST00000607862.1_RNA	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	75					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCCGTCCTGTCTCCTTTAGGC	0.582																																																	0													101	100	100					13																	78492486		2203	4300	6503	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.223G>A	13.37:g.78492486C>T	ENSP00000335311:p.Asp75Asn		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.D75N	ENST00000334286.5	37	c.223	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	C	12.54	1.970073	0.34754	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.70869	-0.52;-0.33;-0.46	4.33	2.51	0.30379	.	0.499782	0.18333	N	0.144435	T	0.43010	0.1228	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.26189	-1.0110	10	0.02654	T	1	-0.0669	9.7724	0.40598	0.1585:0.6889:0.1526:0.0	.	75;165;75	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	165;75;75	ENSP00000366416:D165N;ENSP00000403401:D75N;ENSP00000335311:D75N	ENSP00000335311:D75N	D	-	1	0	EDNRB	77390487	0.000000	0.05858	0.003000	0.11579	0.053000	0.15095	-0.186000	0.09670	0.490000	0.27771	0.591000	0.81541	GAC	EDNRB	-	prints_ETB_rcpt		0.582	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1	C			78492486	-1	no_errors	ENST00000334286	ensembl	human	known	70_37	missense	SNP	0.014	T	T	78492486	C	T	78492486	3	4	74	1	0	0	0	0	1	0	0	0	4930	913	32	1	1254	1	EDNRB	13	78492486	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7978243	78492486	36677392	734	11429										
CLDN10	9071	genome.wustl.edu	37	chr13	96086290	96086290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgaccgcattttactatctTcaaagtagcaggtaaatata	6	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:96086290T>G	ENST00000376873.3	+	1	433	c.203T>G	c.(202-204)tTc>tGc	p.F68C		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	70					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTTACTATCTTCAAAGTAGCA	0.478																																																	0													81	81	81					13																	96086290		2203	4300	6503	SO:0001583	missense	9071			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.203T>G	13.37:g.96086290T>G	ENSP00000366069:p.Phe68Cys		Q6IBF9|Q96N78	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10	p.F68C	ENST00000376873.3	37	c.203	CCDS9475.1	13	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303145	0.81136	.	.	ENSG00000134873	ENST00000376873	D	0.89270	-2.49	5.24	5.24	0.73138	.	.	.	.	.	D	0.93035	0.7783	.	.	.	0.80722	D	1	D	0.58970	0.984	P	0.59115	0.852	D	0.93886	0.7175	8	0.87932	D	0	.	13.9985	0.64419	0.0:0.0:0.0:1.0	.	68	Q96N78	.	C	68	ENSP00000366069:F68C	ENSP00000366069:F68C	F	+	2	0	CLDN10	94884291	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.355000	0.79434	2.103000	0.63969	0.460000	0.39030	TTC	CLDN10	-	pfam_PMP22/EMP/MP20/Claudin		0.478	CLDN10-001	KNOWN	basic|CCDS	protein_coding	CLDN10	HGNC	protein_coding	OTTHUMT00000045483.3	T	NM_006984		96086290	1	no_errors	ENST00000376873	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96086290	T	G	96086290	3	3	74	1	0	0	0	0	1	0	0	0	3477	1783	62	5	205	5	CLDN10	13	96086290	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	17593804	96086290	19083588	735	11430										
C13orf27	93081	genome.wustl.edu	37	chr13	103420662	103420662	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgatgtcttcaggtaattCtagaaaaataaaaaaatcat	5	6	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:103420662C>G	ENST00000376032.4	-	4	436		c.e4-1		TEX30_ENST00000376029.3_Splice_Site|TEX30_ENST00000376021.4_Splice_Site|TEX30_ENST00000376022.1_Splice_Site|TEX30_ENST00000487260.1_Splice_Site|TEX30_ENST00000376027.1_Splice_Site|TEX30_ENST00000376019.1_Splice_Site	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30											lung(1)|urinary_tract(1)	2						TCAGGTAATTCTAGAAAAATA	0.299																																																	0													52	61	58					13																	103420662		2202	4289	6491	SO:0001630	splice_region_variant	93081			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.247-1G>C	13.37:g.103420662C>G			Q5JUR8|Q96KZ8	Splice_Site	SNP	-	e3-1	ENST00000376032.4	37	c.247-1	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771153	0.31320	.	.	ENSG00000151287	ENST00000376027;ENST00000376019;ENST00000376022;ENST00000376021;ENST00000376032;ENST00000376029	.	.	.	4.83	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.441	0.44466	0.0:0.8428:0.0:0.1572	.	.	.	.	.	-1	.	.	.	-	.	.	C13orf27	102218663	1.000000	0.71417	0.998000	0.56505	0.577000	0.36160	5.341000	0.65964	2.359000	0.80004	0.557000	0.71058	.	TEX30	-	-		0.299	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	HGNC	protein_coding	OTTHUMT00000045691.4	C	NM_138779	Intron	103420662	-1	no_errors	ENST00000376032	ensembl	human	known	70_37	splice_site	SNP	0.998	G	G	103420662	C	G	103420662	5	3	74	1	0	0	0	0	0	0	1	0	1727	927	32	1	449	1	C13orf27	13	103420662	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7334372	103420662	11749216	736	11431										
ERCC5	2073	genome.wustl.edu	37	chr13	103514517	103514517	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagagcctgatgctacccctCcttctccaagaactttacta	5	14	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:103514517C>G	ENST00000355739.4	+	8	2441	c.1018C>G	c.(1018-1020)Cct>Gct	p.P340A	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S765C|ERCC5_ENST00000375954.1_5'Flank	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	340					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCTACCCCTCCTTCTCCAAG	0.498			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0													95	96	96					13																	103514517		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1018C>G	13.37:g.103514517C>G	ENSP00000347978:p.Pro340Ala		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.P340A	ENST00000355739.4	37	c.1018	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955937	0.53293	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.19250	2.16	5.22	5.22	0.72569	.	0.164918	0.53938	D	0.000042	T	0.44705	0.1306	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.87578	0.904;0.998;0.994	T	0.18304	-1.0341	10	0.39692	T	0.17	-16.7385	18.7972	0.91999	0.0:1.0:0.0:0.0	.	340;340;765	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	A	765;340;172	ENSP00000347978:P340A	ENSP00000347978:P340A	P	+	1	0	ERCC5	102312518	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	6.080000	0.71299	2.424000	0.82194	0.655000	0.94253	CCT	ERCC5	-	tigrfam_XPGC_DNA_repair		0.498	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	C			103514517	1	no_errors	ENST00000355739	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103514517	C	G	103514517	3	3	74	1	0	0	0	0	1	0	0	0	5228	855	30	1	1048	1	ERCC5	13	103514517	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	93855	103514517	11655361	737	11432										
EFNB2	1948	genome.wustl.edu	37	chr13	107145421	107145421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taaatgttcgccgggctctgCgggggcatctcctggacgat	14	11	2	0	rs553579869		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:107145421C>T	ENST00000245323.4	-	5	1118	c.969G>A	c.(967-969)ccG>ccA	p.P323P		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	323					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGGGCTCTGCGGGGGCATCT	0.602																																																	0													58	58	58					13																	107145421		2203	4300	6503	SO:0001819	synonymous_variant	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.969G>A	13.37:g.107145421C>T			Q5JV56	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.P323	ENST00000245323.4	37	c.969	CCDS9507.1	13																																																																																			EFNB2	-	NULL		0.602	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4	C	NM_004093		107145421	-1	no_errors	ENST00000245323	ensembl	human	known	70_37	silent	SNP	0.127	T	T	107145421	C	T	107145421	2	4	74	1	0	0	0	0	0	0	0	1	4966	755	27	2		2	EFNB2	13	107145421	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3630904	107145421	8024457	738	11433										
TNFSF13B	10673	genome.wustl.edu	37	chr13	108955643	108955643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttctcagctttaaaagggGaagtgccctagaagaaaaag	11	7	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:108955643G>A	ENST00000375887.4	+	4	702	c.524G>A	c.(523-525)gGa>gAa	p.G175E	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G156E|TNFSF13B_ENST00000479435.1_3'UTR|RNA5SP39_ENST00000411245.1_RNA|TNFSF13B_ENST00000542136.1_Intron	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	175					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TTTAAAAGGGGAAGTGCCCTA	0.353																																																	0													56	59	58					13																	108955643		2202	4300	6502	SO:0001583	missense	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.524G>A	13.37:g.108955643G>A	ENSP00000365048:p.Gly175Glu		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.G175E	ENST00000375887.4	37	c.524	CCDS9509.1	13	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241435	0.58995	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	D;D	0.95724	-3.79;-3.79	5.95	5.95	0.96441	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.78637	2.42	0.80722	D	1	P;P	0.42337	0.776;0.665	B;B	0.38428	0.235;0.273	D	0.95128	0.8252	10	0.54805	T	0.06	-22.8088	19.3906	0.94581	0.0:0.0:1.0:0.0	.	156;175	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	E	156;175	ENSP00000389540:G156E;ENSP00000365048:G175E	ENSP00000365048:G175E	G	+	2	0	TNFSF13B	107753644	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	7.591000	0.82666	2.827000	0.97445	0.650000	0.86243	GGA	TNFSF13B	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF		0.353	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	G			108955643	1	no_errors	ENST00000375887	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108955643	G	A	108955643	3	1	74	1	0	0	0	0	1	0	0	0	16336	1174	41	1	538	1	TNFSF13B	13	108955643	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1810222	108955643	6214235	739	11434										
TNFSF13B	10673	genome.wustl.edu	37	chr13	108955665	108955665	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtgccctagaagaaaaagaGaataaaatattggtcaaaga	9	4	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:108955665G>A	ENST00000375887.4	+	4	724	c.546G>A	c.(544-546)gaG>gaA	p.E182E	TNFSF13B_ENST00000430559.1_Silent_p.E163E|TNFSF13B_ENST00000479435.1_3'UTR|RNA5SP39_ENST00000411245.1_RNA|TNFSF13B_ENST00000542136.1_Intron	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	182					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AAGAAAAAGAGAATAAAATAT	0.358																																																	0													55	59	58					13																	108955665		2203	4299	6502	SO:0001819	synonymous_variant	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.546G>A	13.37:g.108955665G>A			E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.E182	ENST00000375887.4	37	c.546	CCDS9509.1	13																																																																																			TNFSF13B	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF		0.358	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	G			108955665	1	no_errors	ENST00000375887	ensembl	human	known	70_37	silent	SNP	0.998	A	A	108955665	G	A	108955665	2	1	74	1	0	0	0	0	0	0	0	1	16336	933	33	1		1	TNFSF13B	13	108955665	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	22	108955665	6214213	740	11435										
IRS2	8660	genome.wustl.edu	37	chr13	110434810	110434810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggaggtgggcggctcgtcGccccctccagggccgacacc	17	16	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:110434810G>A	ENST00000375856.3	-	1	4105	c.3591C>T	c.(3589-3591)ggC>ggT	p.G1197G		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1197					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCGGCTCGTCGCCCCCTCCAG	0.711																																					Melanoma(100;613 2409 40847)												0																																										SO:0001819	synonymous_variant	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3591C>T	13.37:g.110434810G>A			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G1197	ENST00000375856.3	37	c.3591	CCDS9510.1	13																																																																																			IRS2	-	NULL		0.711	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	G	NM_003749		110434810	-1	no_errors	ENST00000375856	ensembl	human	known	70_37	silent	SNP	0.014	A	A	110434810	G	A	110434810	2	1	74	1	0	0	0	0	0	0	0	1	7861	1074	38	2		2	IRS2	13	110434810	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1479145	110434810	4735068	741	11436										
CARKD	55739	genome.wustl.edu	37	chr13	111286919	111286919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaagtgtcaaaggccaggGacatccctgttgtcatcgac	12	10	2	0	rs372292567		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:111286919G>T	ENST00000309957.2	+	6	537	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_Missense_Mutation_p.D112Y|CARKD_ENST00000458711.2_Missense_Mutation_p.D44Y|CARKD_ENST00000424185.2_Missense_Mutation_p.D65Y	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AAAGGCCAGGGACATCCCTGT	0.552																																																	0													177	148	158					13																	111286919		2203	4300	6503	SO:0001583	missense	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.523G>T	13.37:g.111286919G>T	ENSP00000311984:p.Asp175Tyr			Missense_Mutation	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.D175Y	ENST00000309957.2	37	c.523	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136735	0.56936	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T;T	0.25085	1.82;1.82;1.87;1.82	5.03	5.03	0.67393	Uncharacterised domain, carbohydrate kinase-related (3);	0.424962	0.27100	N	0.020934	T	0.54208	0.1844	M	0.86028	2.79	0.45227	D	0.998235	D;D;D;D;D;P	0.67145	0.996;0.98;0.973;0.996;0.988;0.952	D;P;P;P;P;P	0.63381	0.914;0.844;0.852;0.879;0.854;0.796	T	0.63247	-0.6680	10	0.87932	D	0	-7.7257	17.1365	0.86742	0.0:0.0:1.0:0.0	.	44;65;157;112;175;175	B4DQR1;Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;.;CARKD_HUMAN	Y	44;65;157;112;175	ENSP00000412789:D44Y;ENSP00000413191:D65Y;ENSP00000380375:D112Y;ENSP00000311984:D175Y	ENSP00000311984:D175Y	D	+	1	0	CARKD	110084920	1.000000	0.71417	0.730000	0.30809	0.143000	0.21401	6.607000	0.74163	2.313000	0.78055	0.591000	0.81541	GAC	CARKD	-	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel		0.552	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	G	NM_018210		111286919	1	no_errors	ENST00000309957	ensembl	human	known	70_37	missense	SNP	0.996	T	T	111286919	G	T	111286919	3	4	74	1	0	0	0	0	1	0	0	0	2659	1174	41	3	545	3	CARKD	13	111286919	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	852109	111286919	3882959	742	11437										
F7	2155	genome.wustl.edu	37	chr13	113768192	113768192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtgcctcaagtccatgccaGaatgggggctcctgcaagga	13	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:113768192G>C	ENST00000375581.3	+	5	383	c.348G>C	c.(346-348)caG>caC	p.Q116H	F7_ENST00000346342.3_Missense_Mutation_p.Q94H|F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Missense_Mutation_p.Q47H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	116	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCCATGCCAGAATGGGGGCT	0.592																																																	0													109	101	104					13																	113768192		2203	4300	6503	SO:0001583	missense	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.348G>C	13.37:g.113768192G>C	ENSP00000364731:p.Gln116His		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.Q116H	ENST00000375581.3	37	c.348	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104562	0.37145	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.98400	-4.91;-2.41;-4.91	4.67	3.82	0.43975	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.224065	0.38058	N	0.001836	D	0.97958	0.9328	L	0.45581	1.43	0.45183	D	0.998195	B;B;D;D	0.76494	0.363;0.416;0.999;0.999	B;B;D;D	0.68943	0.149;0.232;0.934;0.961	D	0.97120	0.9810	10	0.33141	T	0.24	.	13.2407	0.59995	0.0771:0.0:0.9229:0.0	.	47;47;94;116	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	H	94;47;116	ENSP00000329546:Q94H;ENSP00000442051:Q47H;ENSP00000364731:Q116H	ENSP00000329546:Q94H	Q	+	3	2	F7	112816193	1.000000	0.71417	0.991000	0.47740	0.130000	0.20726	2.444000	0.44890	1.170000	0.42753	0.655000	0.94253	CAG	F7	-	pfam_EG-like_dom,superfamily_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pept_S1A_FX,pfscan_EG-like_dom		0.592	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	G	NM_000131		113768192	1	no_errors	ENST00000375581	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113768192	G	C	113768192	3	2	74	1	0	0	0	0	1	0	0	0	5361	933	33	1	366	1	F7	13	113768192	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2481273	113768192	1401686	743	11438										
TMCO3	55002	genome.wustl.edu	37	chr13	114201654	114201654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtttgtggcgtacgagctcaCggtgctggtgttcctcacct	13	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:114201654C>T	ENST00000434316.2	+	11	2089	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	577						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TACGAGCTCACGGTGCTGGTG	0.597																																																	0													256	169	198					13																	114201654		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1730C>T	13.37:g.114201654C>T	ENSP00000389399:p.Thr577Met		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.T577M	ENST00000434316.2	37	c.1730	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608247	0.66558	.	.	ENSG00000150403	ENST00000434316	T	0.15603	2.41	4.78	3.9	0.45041	Cation/H+ exchanger (1);	0.237208	0.41823	D	0.000811	T	0.35799	0.0944	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	P	0.59761	0.863	T	0.11567	-1.0582	10	0.41790	T	0.15	-20.6585	14.5856	0.68322	0.0:0.8528:0.1472:0.0	.	577	Q6UWJ1	TMCO3_HUMAN	M	577	ENSP00000389399:T577M	ENSP00000389399:T577M	T	+	2	0	TMCO3	113249655	0.990000	0.36364	0.137000	0.22149	0.429000	0.31625	3.048000	0.49862	0.951000	0.37770	0.456000	0.33151	ACG	TMCO3	-	pfam_Cation/H_exchanger		0.597	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	C	NM_017905		114201654	1	no_errors	ENST00000434316	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114201654	C	T	114201654	3	4	74	1	0	0	0	0	1	0	0	0	16027	536	19	2	1768	2	TMCO3	13	114201654	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	433462	114201654	968224	744	11439										
GRK1	6011	genome.wustl.edu	37	chr13	114321720	114321720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggatggatttcgggtctttgGagaccgtggtggccaactct	15	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:114321720G>A	ENST00000335678.6	+	1	251	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	7	N-terminal.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CGGGTCTTTGGAGACCGTGGT	0.642																																																	0													43	51	48					13																	114321720		2091	4228	6319	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.19G>A	13.37:g.114321720G>A	ENSP00000334876:p.Glu7Lys		Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E7K	ENST00000335678.6	37	c.19		13	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490272	0.64074	.	.	ENSG00000185974	ENST00000335678	T	0.69926	-0.44	5.21	5.21	0.72293	.	0.179079	0.49305	D	0.000144	T	0.58395	0.2119	.	.	.	0.38931	D	0.957946	B	0.31893	0.345	B	0.22152	0.038	T	0.63717	-0.6574	9	0.56958	D	0.05	-55.7291	16.2679	0.82600	0.0:0.0:1.0:0.0	.	7	Q15835	RK_HUMAN	K	7	ENSP00000334876:E7K	ENSP00000334876:E7K	E	+	1	0	GRK1	113369721	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.347000	0.59373	2.415000	0.81967	0.561000	0.74099	GAG	GRK1	-	NULL		0.642	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	G	NM_002929		114321720	1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114321720	G	A	114321720	3	1	74	1	0	0	0	0	1	0	0	0	6810	1175	41	1	21	1	GRK1	13	114321720	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	120066	114321720	848158	745	11440										
TEP1	7011	genome.wustl.edu	37	chr14	20845581	20845581	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttctgcaccactcaccaaTaccttggggcttagccaggc	8	15	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20845581T>A	ENST00000262715.5	-	41	5986	c.5946A>T	c.(5944-5946)gtA>gtT	p.V1982V	TEP1_ENST00000556935.1_Silent_p.V1874V|TEP1_ENST00000545983.1_Silent_p.V320V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1982					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACTCACCAATACCTTGGGGC	0.587																																																	0													65	57	60					14																	20845581		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5946A>T	14.37:g.20845581T>A			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1982	ENST00000262715.5	37	c.5946	CCDS9548.1	14																																																																																			TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	T	NM_007110		20845581	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	silent	SNP	0.004	A	A	20845581	T	A	20845581	2	1	74	1	0	0	0	0	0	0	0	1	15789	1393	49	5		5	TEP1	14	20845581	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09		20845581	86503959	746	11441										
TEP1	7011	genome.wustl.edu	37	chr14	20852820	20852820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagttctgagatccgacgtgCggcctcttcagactcagaaa	10	12	4	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20852820C>T	ENST00000262715.5	-	22	3200	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	TEP1_ENST00000556935.1_Missense_Mutation_p.A946T|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1054					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATCCGACGTGCGGCCTCTTCA	0.532																																																	0													117	127	124					14																	20852820		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3160G>A	14.37:g.20852820C>T	ENSP00000262715:p.Ala1054Thr		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1054T	ENST00000262715.5	37	c.3160	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983429	0.35036	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.20069	2.1;2.1	5.2	3.33	0.38152	.	0.105660	0.64402	N	0.000007	T	0.20129	0.0484	M	0.77616	2.38	0.45272	D	0.998277	B;B;B	0.31318	0.319;0.309;0.213	B;B;B	0.22386	0.039;0.034;0.018	T	0.03555	-1.1025	10	0.28530	T	0.3	-2.485	6.1297	0.20199	0.1533:0.6824:0.0:0.1643	.	946;404;1054	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	T	1054;1054;946	ENSP00000262715:A1054T;ENSP00000452574:A946T	ENSP00000262715:A1054T	A	-	1	0	TEP1	19922660	0.988000	0.35896	0.357000	0.25798	0.887000	0.51463	2.046000	0.41260	0.543000	0.28864	0.561000	0.74099	GCA	TEP1	-	NULL		0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20852820	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.398	T	T	20852820	C	T	20852820	3	4	74	1	0	0	0	0	1	0	0	0	15789	768	27	2	4859	2	TEP1	14	20852820	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7239	20852820	86496720	747	11442										
TEP1	7011	genome.wustl.edu	37	chr14	20859825	20859825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcagatagaccaagacagtgCggcctggcagcaggggcagg	16	10	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20859825C>T	ENST00000262715.5	-	13	2070	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	TEP1_ENST00000556935.1_Missense_Mutation_p.R569H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	677					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAAGACAGTGCGGCCTGGCAG	0.527																																																	0													151	132	138					14																	20859825		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2030G>A	14.37:g.20859825C>T	ENSP00000262715:p.Arg677His		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R677H	ENST00000262715.5	37	c.2030	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129797	0.77549	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.52526	0.67;0.66	4.57	4.57	0.56435	.	0.182174	0.47093	D	0.000244	T	0.65344	0.2682	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.85130	0.951;0.997;0.894	T	0.68040	-0.5514	10	0.72032	D	0.01	-15.8819	13.0483	0.58939	0.0:1.0:0.0:0.0	.	569;27;677	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	677;677;569	ENSP00000262715:R677H;ENSP00000452574:R569H	ENSP00000262715:R677H	R	-	2	0	TEP1	19929665	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.164000	0.42387	2.533000	0.85409	0.462000	0.41574	CGC	TEP1	-	NULL		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20859825	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20859825	C	T	20859825	3	4	74	1	0	0	0	0	1	0	0	0	15789	768	27	2	6025	2	TEP1	14	20859825	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7005	20859825	86489715	748	11443										
METT11D1	64745	genome.wustl.edu	37	chr14	21464426	21464426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcctgtagcttctcacaggCgtaccatcccatccccttca	7	17	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21464426C>T	ENST00000339374.6	+	12	1288	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	METTL17_ENST00000556670.2_Missense_Mutation_p.A352V|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.A352V|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	352					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TTCTCACAGGCGTACCATCCC	0.483																																																	0													233	223	226					14																	21464426		2203	4300	6503	SO:0001583	missense	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1055C>T	14.37:g.21464426C>T	ENSP00000343041:p.Ala352Val		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.A352V	ENST00000339374.6	37	c.1055	CCDS9562.1	14	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198402	0.22037	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.30182	1.54;1.54	5.17	1.12	0.20585	.	0.676072	0.14854	N	0.294477	T	0.17408	0.0418	L	0.29908	0.895	0.22435	N	0.999107	P;B;B	0.38280	0.625;0.386;0.335	B;B;B	0.29440	0.088;0.102;0.062	T	0.07271	-1.0781	10	0.41790	T	0.15	.	8.6367	0.33953	0.0:0.4216:0.4904:0.088	.	352;352;352	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	V	352	ENSP00000343041:A352V;ENSP00000372445:A352V	ENSP00000343041:A352V	A	+	2	0	METTL17	20534266	0.896000	0.30565	0.418000	0.26571	0.616000	0.37450	1.198000	0.32223	-0.071000	0.12886	-0.176000	0.13171	GCG	METTL17	-	pfam_Ribosomal_Rsm22_bac-type		0.483	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	HGNC	protein_coding	OTTHUMT00000073804.4	C	NM_022734		21464426	1	no_errors	ENST00000382985	ensembl	human	known	70_37	missense	SNP	0.281	T	T	21464426	C	T	21464426	3	4	74	1	0	0	0	0	1	0	0	0	9514	768	27	2	1101	2	METT11D1	14	21464426	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	604601	21464426	85885114	749	11444										
FLJ10357	55701	genome.wustl.edu	37	chr14	21549035	21549035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagcctcccttctccaggagCgcctggcccaggcacgggag	13	17	1	0	rs139243448	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21549035C>T	ENST00000298694.4	+	13	2627	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R834C			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	834						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCTCCAGGAGCGCCTGGCCCA	0.642													C|||	2	0.000399361	0	0	5008	,	,		16679	0		0.001	False		,,,				2504	0.001																0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	55	56	55		2500	5.5	1	14	dbSNP_134	55	16,8584	11.9+/-42.8	0,16,4284	yes	missense	ARHGEF40	NM_018071.3	180	0,18,6485	TT,TC,CC		0.186,0.0454,0.1384	probably-damaging	834/1520	21549035	18,12988	2203	4300	6503	SO:0001583	missense	55701				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2500C>T	14.37:g.21549035C>T	ENSP00000298694:p.Arg834Cys		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R834C	ENST00000298694.4	37	c.2500	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422674	0.62733	4.54E-4	0.00186	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02682	4.26;4.2	5.52	5.52	0.82312	.	0.275017	0.27249	N	0.020228	T	0.03348	0.0097	N	0.24115	0.695	0.44492	D	0.997433	D;D	0.60160	0.987;0.978	B;B	0.43783	0.431;0.333	T	0.59225	-0.7494	10	0.46703	T	0.11	.	14.946	0.71032	0.0:1.0:0.0:0.0	.	834;834	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	C	834	ENSP00000298694:R834C;ENSP00000298693:R834C	ENSP00000298693:R834C	R	+	1	0	ARHGEF40	20618875	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	1.229000	0.32600	2.576000	0.86940	0.555000	0.69702	CGC	ARHGEF40	-	NULL		0.642	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	C			21549035	1	no_errors	ENST00000298694	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21549035	C	T	21549035	3	4	74	1	0	0	0	0	1	0	0	0	5944	768	27	2	2550	2	FLJ10357	14	21549035	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	84609	21549035	85800505	750	11445										
ZNF219	51222	genome.wustl.edu	37	chr14	21559617	21559617	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgatgtgctgagcggaaaGattttccgcagaaaggacaa	14	6	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21559617G>C	ENST00000360947.3	-	4	1928	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.S506C|ZNF219_ENST00000451119.2_Missense_Mutation_p.S506C	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	506					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S506C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGAGCGGAAAGATTTTCCGCA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											78	86	83					14																	21559617		2203	4300	6503	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1517C>G	14.37:g.21559617G>C	ENSP00000354206:p.Ser506Cys		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept	p.S506C	ENST00000360947.3	37	c.1517	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614015	0.87359	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	T;T;T	0.08282	3.11;3.11;3.11	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.122041	0.56097	D	0.000025	T	0.10252	0.0251	L	0.31752	0.955	0.40642	D	0.981955	B	0.29646	0.253	B	0.34385	0.181	T	0.12167	-1.0558	10	0.72032	D	0.01	-21.3319	17.2214	0.86958	0.0:0.0:1.0:0.0	.	506	Q9P2Y4	ZN219_HUMAN	C	506	ENSP00000354206:S506C;ENSP00000388558:S506C;ENSP00000392401:S506C	ENSP00000354206:S506C	S	-	2	0	ZNF219	20629457	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.589000	0.82641	2.649000	0.89929	0.555000	0.69702	TCT	ZNF219	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2	G			21559617	-1	no_errors	ENST00000360947	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21559617	G	C	21559617	3	2	74	1	0	0	0	0	1	0	0	0	17803	942	33	1	659	1	ZNF219	14	21559617	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10582	21559617	85789923	751	11446										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21790060	21790060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgacaatgataatagagaTcacaaagaaaagctggagag	11	5	1	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21790060T>A	ENST00000400017.2	+	13	1659	c.1659T>A	c.(1657-1659)gaT>gaA	p.D553E	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D195E|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D526E|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D526E|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.D553E	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	553					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATAATAGAGATCACAAAGAAA	0.398																																																	0													87	83	84					14																	21790060		1887	4108	5995	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1659T>A	14.37:g.21790060T>A	ENSP00000382895:p.Asp553Glu		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D553E	ENST00000400017.2	37	c.1659	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099411	0.37048	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.76060	0.39;-0.53;-0.51;-0.51;0.01;-0.87;-0.99	4.58	-5.62	0.02481	.	0.243565	0.40302	N	0.001128	T	0.51924	0.1703	L	0.46614	1.455	0.09310	N	1	P;B;P;P	0.46578	0.88;0.015;0.88;0.809	B;B;B;B	0.40285	0.325;0.019;0.325;0.279	T	0.55630	-0.8111	10	0.21014	T	0.42	-5.425	1.1924	0.01868	0.2254:0.1851:0.388:0.2015	.	28;195;169;553	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	E	526;526;553;553;195;28;26	ENSP00000450445:D526E;ENSP00000451219:D526E;ENSP00000382895:D553E;ENSP00000206660:D553E;ENSP00000372391:D195E;ENSP00000451262:D28E;ENSP00000450426:D26E	ENSP00000206660:D553E	D	+	3	2	RPGRIP1	20859900	0.122000	0.22280	0.004000	0.12327	0.340000	0.28889	-0.025000	0.12413	-0.642000	0.05480	0.254000	0.18369	GAT	RPGRIP1	-	NULL		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	T	NM_020366		21790060	1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	0.006	A	A	21790060	T	A	21790060	3	1	74	1	0	0	0	0	1	0	0	0	13579	1432	50	5	1709	5	RPGRIP1	14	21790060	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	230443	21790060	85559480	752	11447										
IPO4	79711	genome.wustl.edu	37	chr14	24654676	24654676	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggttcacctgtaggttttCtgagaactggcccagggcaa	12	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:24654676C>T	ENST00000354464.6	-	13	1443	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	423					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGTAGGTTTTCTGAGAACTGG	0.567																																																	0													84	90	88					14																	24654676		2041	4178	6219	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1267G>A	14.37:g.24654676C>T	ENSP00000346453:p.Glu423Lys		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.E423K	ENST00000354464.6	37	c.1267	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017285	0.93404	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.17854	2.25	5.44	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.052867	0.64402	D	0.000001	T	0.43678	0.1258	M	0.84219	2.685	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.48864	-0.8997	10	0.62326	D	0.03	-23.6197	13.4579	0.61210	0.0:0.8428:0.1572:0.0	.	423	Q8TEX9	IPO4_HUMAN	K	423;99	ENSP00000346453:E423K	ENSP00000346453:E423K	E	-	1	0	IPO4	23724516	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.854000	0.69503	1.496000	0.48567	0.655000	0.94253	GAA	IPO4	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	C	NM_024658		24654676	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24654676	C	T	24654676	3	4	74	1	0	0	0	0	1	0	0	0	7815	922	32	1	2050	1	IPO4	14	24654676	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2864616	24654676	82694864	753	11448										
C14orf21	161424	genome.wustl.edu	37	chr14	24774255	24774255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgggaacagcagcagggtgCggtggccaagcggaggcggg	21	8	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:24774255C>T	ENST00000267425.3	+	10	1958	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	622							poly(A) RNA binding (GO:0044822)										CAGCAGGGTGCGGTGGCCAAG	0.572																																																	0													47	43	44					14																	24774255		2203	4300	6503	SO:0001583	missense	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1865C>T	14.37:g.24774255C>T	ENSP00000267425:p.Ala622Val		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.A622V	ENST00000267425.3	37	c.1865	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563101	0.65538	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	T	0.33654	1.4	5.75	4.86	0.63082	.	0.251124	0.38326	N	0.001740	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	B	0.33739	0.422	B	0.22753	0.041	T	0.05273	-1.0895	10	0.38643	T	0.18	-1.7554	11.8566	0.52441	0.0:0.9183:0.0:0.0817	.	622	Q86U38	CN021_HUMAN	V	622;173	ENSP00000267425:A622V	ENSP00000267425:A622V	A	+	2	0	C14orf21	23844095	0.979000	0.34478	0.321000	0.25320	0.995000	0.86356	2.780000	0.47742	1.436000	0.47453	0.655000	0.94253	GCG	NOP9	-	NULL		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	C			24774255	1	no_errors	ENST00000267425	ensembl	human	known	70_37	missense	SNP	0.901	T	T	24774255	C	T	24774255	3	4	74	1	0	0	0	0	1	0	0	0	1773	768	27	2	1903	2	C14orf21	14	24774255	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	119579	24774255	82575285	754	11449										
CLEC14A	161198	genome.wustl.edu	37	chr14	38724897	38724897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggacagccaggagaaaccccGcaaaggctcgttctccaggg	13	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:38724897G>A	ENST00000342213.2	-	1	677	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAGAAACCCCGCAAAGGCTCG	0.697																																																	0													19	25	23					14																	38724897		2193	4284	6477	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.331C>T	14.37:g.38724897G>A	ENSP00000353013:p.Arg111Trp		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R111W	ENST00000342213.2	37	c.331	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845045	0.71603	.	.	ENSG00000176435	ENST00000342213	T	0.55930	0.49	3.91	2.98	0.34508	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.136438	0.29066	N	0.013246	T	0.62768	0.2455	L	0.46157	1.445	0.38247	D	0.941489	D	0.89917	1.0	D	0.91635	0.999	T	0.67522	-0.5649	10	0.87932	D	0	-16.6368	10.29	0.43590	0.0:0.0:0.7935:0.2065	.	111	Q86T13	CLC14_HUMAN	W	111	ENSP00000353013:R111W	ENSP00000353013:R111W	R	-	1	2	CLEC14A	37794648	0.996000	0.38824	0.986000	0.45419	0.963000	0.63663	1.312000	0.33574	1.172000	0.42781	0.591000	0.81541	CGG	CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.697	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38724897	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	missense	SNP	0.992	A	A	38724897	G	A	38724897	3	1	74	1	0	0	0	0	1	0	0	0	3504	1086	38	2	1145	2	CLEC14A	14	38724897	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	13950642	38724897	68624643	755	11450										
SEC23A	10484	genome.wustl.edu	37	chr14	39530996	39530996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caatggtggtcactcggatgCgtctctgcccacttgaatgc	11	12	2	1	rs572679988		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:39530996C>T	ENST00000307712.6	-	13	1995	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	SEC23A_ENST00000536508.1_Missense_Mutation_p.R367H|SEC23A_ENST00000537403.1_Missense_Mutation_p.R291H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R464H|SEC23A_ENST00000553925.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	493					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CACTCGGATGCGTCTCTGCCC	0.418																																																	0													151	133	139					14																	39530996		2203	4300	6503	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1478G>A	14.37:g.39530996C>T	ENSP00000306881:p.Arg493His		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R493H	ENST00000307712.6	37	c.1478	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.146471	0.94603	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.4	5.4	0.78164	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.81682	2.555	0.80722	D	1	D;D;P;D	0.65815	0.995;0.976;0.785;0.981	P;B;B;P	0.46917	0.481;0.301;0.301;0.531	D	0.85652	0.1283	10	0.41790	T	0.15	-8.0367	19.5304	0.95226	0.0:1.0:0.0:0.0	.	381;464;367;493	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	H	291;493;367;464;381	ENSP00000444193:R291H;ENSP00000306881:R493H;ENSP00000437715:R367H;ENSP00000445393:R464H	ENSP00000306881:R493H	R	-	2	0	SEC23A	38600747	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.675000	0.91044	0.655000	0.94253	CGC	SEC23A	-	pfam_Sec23_24_beta_S		0.418	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	C			39530996	-1	no_errors	ENST00000307712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39530996	C	T	39530996	3	4	74	1	0	0	0	0	1	0	0	0	14021	768	27	2	851	2	SEC23A	14	39530996	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	806099	39530996	67818544	756	11451										
ARF6	382	genome.wustl.edu	37	chr14	50360595	50360595	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accattcccactgtgggtttCaacgtggagacggtgactta	11	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:50360595C>T	ENST00000298316.5	+	2	688	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	47					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CTGTGGGTTTCAACGTGGAGA	0.562																																																	0													84	77	79					14																	50360595		2203	4300	6503	SO:0001819	synonymous_variant	382				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"ADP-ribosylation factors"	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.141C>T	14.37:g.50360595C>T			P26438|Q6FGZ2	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F47	ENST00000298316.5	37	c.141	CCDS9695.1	14																																																																																			ARF6	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.562	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF6	HGNC	protein_coding	OTTHUMT00000276883.1	C	NM_001663		50360595	1	no_errors	ENST00000298316	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50360595	C	T	50360595	2	4	74	1	0	0	0	0	0	0	0	1	848	825	29	1		1	ARF6	14	50360595	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	10829599	50360595	56988945	757	11452										
PSMC6	5706	genome.wustl.edu	37	chr14	53187672	53187672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cactggatcctgctttgctgCgtccaggaagattagataga	11	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:53187672C>T	ENST00000606149.1	+	11	887	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	PSMC6_ENST00000445930.2_Missense_Mutation_p.R305C	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TGCTTTGCTGCGTCCAGGAAG	0.378																																																	0													89	92	91					14																	53187672		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.871C>T	14.37:g.53187672C>T	ENSP00000475721:p.Arg291Cys		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.R305C	ENST00000606149.1	37	c.913		14	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264638	0.80358	.	.	ENSG00000100519	ENST00000445930	D	0.96011	-3.88	4.93	4.93	0.64822	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.98446	4.235	0.80722	D	1	P	0.50156	0.932	B	0.43386	0.418	D	0.99690	1.1001	10	0.87932	D	0	.	18.4944	0.90860	0.0:1.0:0.0:0.0	.	291	P62333	PRS10_HUMAN	C	305	ENSP00000401802:R305C	ENSP00000401802:R305C	R	+	1	0	PSMC6	52257422	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.420000	0.82092	0.585000	0.79938	CGT	PSMC6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.378	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	PSMC6	HGNC	protein_coding	OTTHUMT00000470741.1	C	NM_002806		53187672	1	no_errors	ENST00000445930	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53187672	C	T	53187672	3	4	74	1	0	0	0	0	1	0	0	0	12718	768	27	2	955	2	PSMC6	14	53187672	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2827077	53187672	54161868	758	11453										
TBPL2	387332	genome.wustl.edu	37	chr14	55895676	55895676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcatattttcttgctgcaaGtcgagactgctcttcactgg	9	10	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:55895676G>T	ENST00000247219.5	-	5	875	c.805C>A	c.(805-807)Ctt>Att	p.L269I		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTTGCTGCAAGTCGAGACTGC	0.438																																																	0													88	90	89					14																	55895676		2203	4300	6503	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.805C>A	14.37:g.55895676G>T	ENSP00000247219:p.Leu269Ile			Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.L269I	ENST00000247219.5	37	c.805	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277900	0.59758	.	.	ENSG00000182521	ENST00000247219	T	0.52526	0.66	4.91	4.91	0.64330	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	L	0.37800	1.135	0.58432	D	0.999999	B	0.33198	0.401	B	0.39258	0.295	T	0.50074	-0.8870	10	0.62326	D	0.03	-20.0179	17.2625	0.87073	0.0:0.0:1.0:0.0	.	269	Q6SJ96	TBPL2_HUMAN	I	269	ENSP00000247219:L269I	ENSP00000247219:L269I	L	-	1	0	TBPL2	54965429	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	5.281000	0.65609	2.542000	0.85734	0.563000	0.77884	CTT	TBPL2	-	pfam_TBP		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	G	NM_199047		55895676	-1	no_errors	ENST00000247219	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55895676	G	T	55895676	3	4	74	1	0	0	0	0	1	0	0	0	15676	1029	36	4	334	4	TBPL2	14	55895676	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2708004	55895676	51453864	759	11454										
HIF1A	3091	genome.wustl.edu	37	chr14	62207863	62207863	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tagaacagacagaaaaatctCatccaagaagccctaacgtg	7	10	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:62207863C>G	ENST00000337138.4	+	12	2315	c.2050C>G	c.(2050-2052)Cat>Gat	p.H684D	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.H684D|HIF1A_ENST00000394997.1_Missense_Mutation_p.H685D|HIF1A_ENST00000539097.1_Missense_Mutation_p.H708D|HIF1A_ENST00000557538.1_Missense_Mutation_p.H625D	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	684	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AGAAAAATCTCATCCAAGAAG	0.358																																																	0													96	89	91					14																	62207863		2203	4300	6503	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2050C>G	14.37:g.62207863C>G	ENSP00000338018:p.His684Asp		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.H708D	ENST00000337138.4	37	c.2122	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860421	0.32884	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.52983	0.76;0.76;0.64;0.76;0.75	5.72	5.72	0.89469	.	2.545180	0.00829	N	0.001657	T	0.42539	0.1207	L	0.40543	1.245	0.29909	N	0.823728	B;B;B	0.32160	0.239;0.358;0.358	B;B;B	0.26517	0.07;0.07;0.07	T	0.30149	-0.9988	10	0.31617	T	0.26	.	9.2071	0.37296	0.1484:0.7725:0.0:0.0791	.	685;684;684	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	D	435;625;684;685;684;625;708	ENSP00000338018:H684D;ENSP00000378446:H685D;ENSP00000323326:H684D;ENSP00000451696:H625D;ENSP00000437955:H708D	ENSP00000323326:H684D	H	+	1	0	HIF1A	61277616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.562000	0.36353	2.857000	0.98124	0.650000	0.86243	CAT	HIF1A	-	NULL		0.358	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	C	NM_001530		62207863	1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62207863	C	G	62207863	3	3	74	1	0	0	0	0	1	0	0	0	7123	826	29	1	2096	1	HIF1A	14	62207863	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6312187	62207863	45141677	760	11455										
SYT16	83851	genome.wustl.edu	37	chr14	62550973	62550973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtgatagtacttcatccacGcagtcgctgtctcatggagg	11	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:62550973G>A	ENST00000430451.2	+	5	1691	c.1494G>A	c.(1492-1494)acG>acA	p.T498T		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	498					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTTCATCCACGCAGTCGCTGT	0.552																																																	0													109	107	108					14																	62550973		2003	4170	6173	SO:0001819	synonymous_variant	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1494G>A	14.37:g.62550973G>A			B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T498	ENST00000430451.2	37	c.1494	CCDS45121.1	14																																																																																			SYT16	-	NULL		0.552	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	G	NM_031914		62550973	1	no_errors	ENST00000430451	ensembl	human	novel	70_37	silent	SNP	0.937	A	A	62550973	G	A	62550973	2	1	74	1	0	0	0	0	0	0	0	1	15502	1074	38	2		2	SYT16	14	62550973	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	343110	62550973	44798567	761	11456										
PLEKHG3	26030	genome.wustl.edu	37	chr14	65208577	65208577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagacaggtgggctcccggcCgacttcgtgggccctgtttg	16	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:65208577C>T	ENST00000394691.1	+	16	2489	c.2342C>T	c.(2341-2343)cCg>cTg	p.P781L	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P286L|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.P725L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P314L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	781							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCTCCCGGCCGACTTCGTGG	0.597																																																	0													59	71	67					14																	65208577		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2342C>T	14.37:g.65208577C>T	ENSP00000378183:p.Pro781Leu		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P781L	ENST00000394691.1	37	c.2342		14	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545367	0.45280	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.64260	0.37;-0.09;1.31;1.33	5.97	4.17	0.49024	.	0.394016	0.24864	N	0.034983	T	0.54647	0.1871	M	0.61703	1.905	0.44508	D	0.997457	P;P;P;P	0.50369	0.934;0.861;0.783;0.862	B;B;B;B	0.37650	0.255;0.124;0.034;0.075	T	0.53704	-0.8401	10	0.32370	T	0.25	.	11.7116	0.51628	0.0:0.8556:0.0:0.1444	.	314;286;781;725	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	L	725;781;314;286	ENSP00000247226:P725L;ENSP00000378183:P781L;ENSP00000450945:P314L;ENSP00000450973:P286L	ENSP00000247226:P725L	P	+	2	0	PLEKHG3	64278330	0.027000	0.19231	0.143000	0.22291	0.962000	0.63368	1.303000	0.33470	0.875000	0.35847	0.655000	0.94253	CCG	PLEKHG3	-	NULL		0.597	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	C	NM_015549		65208577	1	no_errors	ENST00000394691	ensembl	human	known	70_37	missense	SNP	0.918	T	T	65208577	C	T	65208577	3	4	74	1	0	0	0	0	1	0	0	0	12094	652	23	2	2224	2	PLEKHG3	14	65208577	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2657604	65208577	42140963	762	11457										
PAPLN	89932	genome.wustl.edu	37	chr14	73733225	73733225	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccagacaccagctgcagcctGatggctccctggtcattagc	10	15	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:73733225G>A	ENST00000554301.1	+	23	3443	c.3280G>A	c.(3280-3282)Gat>Aat	p.D1094N	PAPLN_ENST00000340738.5_Missense_Mutation_p.D1067N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D1078N|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000427855.1_Missense_Mutation_p.D1094N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1094	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCTGCAGCCTGATGGCTCCCT	0.622																																																	0													50	42	45					14																	73733225		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3280G>A	14.37:g.73733225G>A	ENSP00000451803:p.Asp1094Asn		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.D1094N	ENST00000554301.1	37	c.3280		14	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258333	0.80246	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44932	0.1317	L	0.28556	0.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.33752	-0.9856	9	0.41790	T	0.15	.	18.0562	0.89365	0.0:0.0:1.0:0.0	.	1078;1094;293;1067	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	N	1067;1094;1094;1078	ENSP00000345395:D1067N;ENSP00000403403:D1094N;ENSP00000451803:D1094N;ENSP00000451729:D1078N	ENSP00000345395:D1067N	D	+	1	0	PAPLN	72802978	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.302000	0.59092	2.503000	0.84419	0.561000	0.74099	GAT	PAPLN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.622	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	G	NM_173462		73733225	1	no_errors	ENST00000427855	ensembl	human	known	70_37	missense	SNP	0.997	A	A	73733225	G	A	73733225	3	1	74	1	0	0	0	0	1	0	0	0	11452	1290	45	1	3285	1	PAPLN	14	73733225	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8524648	73733225	33616315	763	11458										
TTLL5	23093	genome.wustl.edu	37	chr14	76219283	76219283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaactatatgctggcaacacGcctcttccaggacaggtaga	10	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:76219283G>A	ENST00000298832.9	+	18	1740	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R8H|TTLL5_ENST00000556893.1_Missense_Mutation_p.R50H|TTLL5_ENST00000557636.1_Missense_Mutation_p.R526H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	512					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGGCAACACGCCTCTTCCAG	0.373																																																	0													111	109	110					14																	76219283		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1535G>A	14.37:g.76219283G>A	ENSP00000298832:p.Arg512His		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R512H	ENST00000298832.9	37	c.1535	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035589	0.75617	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.37235	3.69;3.74;1.42;1.21	5.9	5.9	0.94986	.	1.999930	0.02981	N	0.145645	T	0.37404	0.1002	L	0.39020	1.185	0.38952	D	0.958362	B;P;B	0.49559	0.111;0.925;0.132	B;B;B	0.38327	0.05;0.271;0.018	T	0.47315	-0.9127	10	0.34782	T	0.22	.	18.0857	0.89456	0.0:0.0:1.0:0.0	.	526;50;512	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	H	199;526;512;50;50;8	ENSP00000450713:R526H;ENSP00000298832:R512H;ENSP00000452524:R50H;ENSP00000451946:R8H	ENSP00000298832:R512H	R	+	2	0	TTLL5	75289036	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.209000	0.51122	2.794000	0.96219	0.644000	0.83932	CGC	TTLL5	-	NULL		0.373	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	G	NM_015072		76219283	1	no_errors	ENST00000298832	ensembl	human	known	70_37	missense	SNP	0.999	A	A	76219283	G	A	76219283	3	1	74	1	0	0	0	0	1	0	0	0	16761	1087	38	2	1601	2	TTLL5	14	76219283	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2486058	76219283	31130257	764	11459										
KIAA1409	57578	genome.wustl.edu	37	chr14	94004472	94004472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatgaagtgggggccgctgcGgagactcacctctatcagac	13	11	3	3	rs79294654		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:94004472G>A	ENST00000393151.2	+	12	1260	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	UNC79_ENST00000256339.4_Silent_p.A243A|UNC79_ENST00000553484.1_Silent_p.A420A|UNC79_ENST00000555664.1_Silent_p.A420A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	420					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGGCCGCTGCGGAGACTCACC	0.597																																																	0								G		0,4406		0,0,2203	53	51	51		729	-7.5	0	14	dbSNP_131	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC79	NM_020818.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		243/2459	94004472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1260G>A	14.37:g.94004472G>A			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.A420	ENST00000393151.2	37	c.1260		14																																																																																			UNC79	-	NULL		0.597	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94004472	1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	0.073	A	A	94004472	G	A	94004472	2	1	74	1	0	0	0	0	0	0	0	1	8250	1103	39	2		2	KIAA1409	14	94004472	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	17785189	94004472	13345068	765	11460										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102496561	102496561	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggtaattgcagacaaacaGatgagtgtcaaagaagatct	11	5	2	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:102496561G>A	ENST00000360184.4	+	51	9989	c.9825G>A	c.(9823-9825)caG>caA	p.Q3275Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3275	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGACAAACAGATGAGTGTCA	0.458																																																	0													126	105	112					14																	102496561		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9825G>A	14.37:g.102496561G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q3275	ENST00000360184.4	37	c.9825	CCDS9966.1	14																																																																																			DYNC1H1	-	NULL		0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102496561	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	0.745	A	A	102496561	G	A	102496561	2	1	74	1	0	0	0	0	0	0	0	1	4851	933	33	1		1	DYNC1H1	14	102496561	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8492089	102496561	4852979	766	11461										
KIF26A	26153	genome.wustl.edu	37	chr14	104641518	104641518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctacgtggggcccggtggggCggcgctgtcagaccgggagc	20	12	1	1	rs201102650		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:104641518C>T	ENST00000423312.2	+	12	2393	c.2393C>T	c.(2392-2394)gCg>gTg	p.A798V	KIF26A_ENST00000315264.7_Missense_Mutation_p.A659V	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	798					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCGGTGGGGCGGCGCTGTCA	0.697																																																	0													23	29	27					14																	104641518		2067	4174	6241	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2393C>T	14.37:g.104641518C>T	ENSP00000388241:p.Ala798Val		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A798V	ENST00000423312.2	37	c.2393	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854126	0.32791	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.79352	-1.26;-1.25	3.89	2.97	0.34412	.	.	.	.	.	T	0.69949	0.3168	L	0.57536	1.79	0.43054	D	0.994668	P	0.46912	0.886	B	0.35607	0.206	T	0.71955	-0.4436	9	0.62326	D	0.03	.	12.0348	0.53418	0.0:0.9117:0.0:0.0883	.	798	Q9ULI4	KI26A_HUMAN	V	798;659	ENSP00000388241:A798V;ENSP00000325452:A659V	ENSP00000325452:A659V	A	+	2	0	KIF26A	103711271	0.390000	0.25213	0.007000	0.13788	0.056000	0.15407	3.603000	0.54074	0.710000	0.31997	0.462000	0.41574	GCG	KIF26A	-	NULL		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104641518	1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	0.780	T	T	104641518	C	T	104641518	3	4	74	1	0	0	0	0	1	0	0	0	8314	768	27	2	2439	2	KIF26A	14	104641518	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2144957	104641518	2708022	767	11462										
MTA1	9112	genome.wustl.edu	37	chr14	105930894	105930894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagaggccaggaccaaaccGcagtaacatggtaagggggg	16	8	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:105930894G>A	ENST00000331320.7	+	14	1548	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	MTA1_ENST00000405646.1_Missense_Mutation_p.R428H|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Missense_Mutation_p.R445H	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	445					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGACCAAACCGCAGTAACATG	0.597																																																	0													47	48	48					14																	105930894		2201	4300	6501	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1334G>A	14.37:g.105930894G>A	ENSP00000333633:p.Arg445His		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.R445H	ENST00000331320.7	37	c.1334	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.059304	0.93846	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000550551	T;T;T;T	0.33654	1.41;1.4;1.41;1.42	5.19	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.223	D;B	0.64595	0.927;0.016	T	0.57470	-0.7806	9	0.54805	T	0.06	-26.6237	12.8963	0.58101	0.0818:0.0:0.9181:0.0	.	237;445	Q59FW1;Q13330	.;MTA1_HUMAN	H	354;445;445;428;237;34	ENSP00000333633:R445H;ENSP00000385702:R445H;ENSP00000384180:R428H;ENSP00000394106:R237H	ENSP00000333633:R445H	R	+	2	0	MTA1	105001939	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.650000	0.98490	2.445000	0.82738	0.462000	0.41574	CGC	MTA1	-	NULL		0.597	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	G			105930894	1	no_errors	ENST00000331320	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105930894	G	A	105930894	3	1	74	1	0	0	0	0	1	0	0	0	9931	1087	38	2	1388	2	MTA1	14	105930894	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1289376	105930894	1418646	768	11463										
CYFIP1	23191	genome.wustl.edu	37	chr15	22945110	22945110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgcaagctcttcgacctggCgctgcagggcctgcagctgt	13	15	1	0	rs374831208		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:22945110C>T	ENST00000313077.7	+	12	1306	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	CYFIP1_ENST00000560848.1_Missense_Mutation_p.A394V	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTCGACCTGGCGCTGCAGGGC	0.701																																																	0								C	VAL/ALA	1,4401		0,1,2200	18	19	19		1181	4.8	1	15		19	0,8594		0,0,4297	no	missense	CYFIP1	NM_014608.2	64	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	394/1254	22945110	1,12995	2201	4297	6498	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1181C>T	15.37:g.22945110C>T	ENSP00000324549:p.Ala394Val			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.A394V	ENST00000313077.7	37	c.1181	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232359	0.79688	2.27E-4	0.0	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.21361	2.01	4.78	4.78	0.61160	.	0.242826	0.36002	N	0.002854	T	0.20129	0.0484	L	0.52011	1.625	0.80722	D	1	P;B	0.48503	0.911;0.033	B;B	0.38378	0.272;0.028	T	0.07195	-1.0785	10	0.17832	T	0.49	-10.5851	18.2422	0.89971	0.0:1.0:0.0:0.0	.	422;394	E7EQ04;Q7L576	.;CYFP1_HUMAN	V	394;422	ENSP00000324549:A394V	ENSP00000324549:A394V	A	+	2	0	CYFIP1	20496551	1.000000	0.71417	0.983000	0.44433	0.939000	0.58152	7.641000	0.83368	2.384000	0.81235	0.456000	0.33151	GCG	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.701	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	C	NM_014608		22945110	1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22945110	C	T	22945110	3	4	74	1	0	0	0	0	1	0	0	0	4142	768	27	2	1223	2	CYFIP1	15	22945110	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		22945110	79586282	769	11464										
RYR3	6263	genome.wustl.edu	37	chr15	34151870	34151870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgatccttatgaaatgtatcGcattgtctttgacattacct	6	8	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:34151870G>A	ENST00000389232.4	+	100	14307	c.14237G>A	c.(14236-14238)cGc>cAc	p.R4746H	RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.R4741H|RP11-3D4.3_ENST00000560404.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4746					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATGTATCGCATTGTCTTT	0.423																																																	0													301	294	296					15																	34151870		2030	4194	6224	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14237G>A	15.37:g.34151870G>A	ENSP00000373884:p.Arg4746His		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R4746H	ENST00000389232.4	37	c.14237	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.427979	0.96131	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98493	-4.96	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.95574	3.69	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.97110	0.985;1.0	D	0.98779	1.0731	10	0.87932	D	0	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	4741;4746	Q15413-2;Q15413	.;RYR3_HUMAN	H	4746;4742	ENSP00000373884:R4746H	ENSP00000354735:R4742H	R	+	2	0	RYR3	31939162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.503000	0.97984	2.884000	0.98904	0.655000	0.94253	CGC	RYR3	-	pfam_Ion_trans_dom		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34151870	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34151870	G	A	34151870	3	1	74	1	0	0	0	0	1	0	0	0	13800	1087	38	2	14635	2	RYR3	15	34151870	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11206760	34151870	68379522	770	11465										
SPG11	80208	genome.wustl.edu	37	chr15	44907617	44907617	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agactgtgctccaaacaataGagaatgaattgagaatggaa	10	5	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:44907617G>A	ENST00000261866.7	-	16	2998	c.2982C>T	c.(2980-2982)ctC>ctT	p.L994L	SPG11_ENST00000558319.1_Silent_p.L994L|SPG11_ENST00000427534.2_Silent_p.L994L|SPG11_ENST00000535302.2_Silent_p.L994L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	994					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAAACAATAGAGAATGAATT	0.418																																																	0													140	124	129					15																	44907617		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2982C>T	15.37:g.44907617G>A			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.L994	ENST00000261866.7	37	c.2982	CCDS10112.1	15																																																																																			SPG11	-	NULL		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44907617	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	silent	SNP	0.952	A	A	44907617	G	A	44907617	2	1	74	1	0	0	0	0	0	0	0	1	15071	929	33	1		1	SPG11	15	44907617	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	10755747	44907617	57623775	771	11466										
CEP152	22995	genome.wustl.edu	37	chr15	49030519	49030519	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcggaacaattaattttcttGaaggctgctgacacactgaa	9	8	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:49030519G>A	ENST00000380950.2	-	27	5247	c.5060C>T	c.(5059-5061)tCa>tTa	p.S1687L	CEP152_ENST00000399334.3_Missense_Mutation_p.S1631L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1687					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TAATTTTCTTGAAGGCTGCTG	0.368																																																	0													111	104	106					15																	49030519		1856	4085	5941	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5060C>T	15.37:g.49030519G>A	ENSP00000370337:p.Ser1687Leu		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.S1687L	ENST00000380950.2	37	c.5060	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028505	0.35797	.	.	ENSG00000103995	ENST00000399334	T	0.55588	0.51	4.54	1.6	0.23607	.	1.228890	0.06148	N	0.673578	T	0.32763	0.0840	N	0.12746	0.255	0.09310	N	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.21861	-1.0233	10	0.24483	T	0.36	1.0688	6.0519	0.19790	0.2412:0.1362:0.6226:0.0	.	1631	O94986	CE152_HUMAN	L	1631	ENSP00000382271:S1631L	ENSP00000382271:S1631L	S	-	2	0	CEP152	46817811	0.000000	0.05858	0.003000	0.11579	0.689000	0.40095	-0.173000	0.09854	0.162000	0.19483	0.563000	0.77884	TCA	CEP152	-	NULL		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49030519	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	0.036	A	A	49030519	G	A	49030519	3	1	74	1	0	0	0	0	1	0	0	0	3253	1294	45	1	76	1	CEP152	15	49030519	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4122902	49030519	53500873	772	11467										
DMXL2	23312	genome.wustl.edu	37	chr15	51828558	51828558	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acgagttgctgcatttctaaGaggttgtttcgaggaacctt	11	7	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:51828558G>C	ENST00000251076.5	-	12	2406	c.2119C>G	c.(2119-2121)Ctt>Gtt	p.L707V	DMXL2_ENST00000543779.2_Missense_Mutation_p.L707V|DMXL2_ENST00000449909.3_Missense_Mutation_p.L707V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	707						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCATTTCTAAGAGGTTGTTTC	0.388																																																	0													191	189	190					15																	51828558		2195	4291	6486	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2119C>G	15.37:g.51828558G>C	ENSP00000251076:p.Leu707Val		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L707V	ENST00000251076.5	37	c.2119	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368912	0.24771	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23950	2.03;2.03;1.88	5.39	4.48	0.54585	.	0.056975	0.64402	D	0.000001	T	0.18467	0.0443	L	0.40543	1.245	0.23510	N	0.997521	P;P;P	0.47762	0.783;0.734;0.9	B;B;B	0.39706	0.307;0.138;0.266	T	0.10337	-1.0634	10	0.16420	T	0.52	.	10.3408	0.43877	0.15:0.0:0.85:0.0	.	707;707;707	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	V	707	ENSP00000251076:L707V;ENSP00000441858:L707V;ENSP00000400855:L707V	ENSP00000251076:L707V	L	-	1	0	DMXL2	49615850	0.996000	0.38824	0.492000	0.27490	0.983000	0.72400	2.451000	0.44952	1.269000	0.44280	0.655000	0.94253	CTT	DMXL2	-	NULL		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51828558	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	0.986	C	C	51828558	G	C	51828558	3	2	74	1	0	0	0	0	1	0	0	0	4605	942	33	1	7122	1	DMXL2	15	51828558	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2798039	51828558	50702834	773	11468										
PRTG	283659	genome.wustl.edu	37	chr15	55912411	55912411	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagtcttcatcactgattaaTacagtggtgcctggctggta	11	8	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:55912411T>G	ENST00000389286.4	-	20	3299	c.3252A>C	c.(3250-3252)gtA>gtC	p.V1084V		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACTGATTAATACAGTGGTGC	0.458																																																	0													92	91	91					15																	55912411		1891	4109	6000	SO:0001819	synonymous_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3252A>C	15.37:g.55912411T>G				Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1084	ENST00000389286.4	37	c.3252	CCDS42040.1	15																																																																																			PRTG	-	NULL		0.458	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	T	NM_173814		55912411	-1	no_errors	ENST00000389286	ensembl	human	known	70_37	silent	SNP	0.243	G	G	55912411	T	G	55912411	2	3	74	1	0	0	0	0	0	0	0	1	12665	1393	49	5		5	PRTG	15	55912411	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4083853	55912411	46618981	774	11469										
APH1B	83464	genome.wustl.edu	37	chr15	63571440	63571440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cattattgacaacaaagatgGaccaacacagaaatatctgc	6	9	1	3	rs202211152		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:63571440G>A	ENST00000261879.5	+	2	264	c.194G>A	c.(193-195)gGa>gAa	p.G65E	APH1B_ENST00000380343.4_Missense_Mutation_p.G65E	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	65					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						AACAAAGATGGACCAACACAG	0.363																																																	0													178	169	172					15																	63571440		2203	4300	6503	SO:0001583	missense	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.194G>A	15.37:g.63571440G>A	ENSP00000261879:p.Gly65Glu		A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	pfam_Aph-1	p.G65E	ENST00000261879.5	37	c.194	CCDS10184.1	15	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303590	0.01353	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.42513	1.02;0.97	4.64	-3.22	0.05125	.	0.137090	0.46758	N	0.000274	T	0.15478	0.0373	N	0.05124	-0.11	0.25656	N	0.986051	B;B	0.15719	0.014;0.01	B;B	0.19666	0.019;0.026	T	0.14924	-1.0455	10	0.24483	T	0.36	-0.0645	5.5964	0.17329	0.3803:0.3676:0.2521:0.0	.	65;65	Q564N3;Q8WW43	.;APH1B_HUMAN	E	65	ENSP00000369700:G65E;ENSP00000261879:G65E	ENSP00000261879:G65E	G	+	2	0	APH1B	61358493	0.000000	0.05858	0.104000	0.21259	0.140000	0.21249	-0.221000	0.09202	-0.184000	0.10567	0.462000	0.41574	GGA	APH1B	-	pfam_Aph-1		0.363	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1	G	NM_031301		63571440	1	no_errors	ENST00000261879	ensembl	human	known	70_37	missense	SNP	0.059	A	A	63571440	G	A	63571440	3	1	74	1	0	0	0	0	1	0	0	0	772	1174	41	1	200	1	APH1B	15	63571440	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7659029	63571440	38959952	775	11470										
DIS3L	115752	genome.wustl.edu	37	chr15	66612937	66612937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtggtcgtgcgcatcgattCctgggagtcaacatctgtgt	14	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:66612937C>T	ENST00000319212.4	+	9	1243	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.S315F|DIS3L_ENST00000441424.2_Silent_p.F207F	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	398					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCATCGATTCCTGGGAGTCA	0.453																																																	0													147	133	138					15																	66612937		2201	4299	6500	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1193C>T	15.37:g.66612937C>T	ENSP00000321711:p.Ser398Phe		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S398F	ENST00000319212.4	37	c.1193	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688074	0.88639	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.33654	1.4;1.4	5.11	4.17	0.49024	.	0.212425	0.51477	D	0.000085	T	0.57975	0.2090	M	0.73430	2.235	0.80722	D	1	B;D;D	0.62365	0.44;0.991;0.991	B;P;D	0.64595	0.118;0.893;0.927	T	0.63699	-0.6578	10	0.72032	D	0.01	-10.922	14.5487	0.68050	0.0:0.8527:0.1473:0.0	.	398;264;398	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	F	315;398	ENSP00000321583:S315F;ENSP00000321711:S398F	ENSP00000321583:S315F	S	+	2	0	DIS3L	64399991	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.599000	0.82757	1.113000	0.41760	0.561000	0.74099	TCC	DIS3L	-	NULL		0.453	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	C	NM_133375		66612937	1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66612937	C	T	66612937	3	4	74	1	0	0	0	0	1	0	0	0	4546	855	30	1	1227	1	DIS3L	15	66612937	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3041497	66612937	35918455	776	11471										
KIF23	9493	genome.wustl.edu	37	chr15	69715581	69715581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggttgatgaagatagtgtctAtggtgtatttgtctcttata	11	3	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:69715581A>G	ENST00000260363.4	+	7	764	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	KIF23_ENST00000537891.1_Missense_Mutation_p.Y19C|KIF23_ENST00000559279.1_Missense_Mutation_p.Y216C|KIF23_ENST00000352331.4_Missense_Mutation_p.Y216C|KIF23_ENST00000558585.1_Missense_Mutation_p.Y19C|KIF23_ENST00000395392.2_Missense_Mutation_p.Y216C	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	216	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GATAGTGTCTATGGTGTATTT	0.318																																																	0													66	73	70					15																	69715581		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.647A>G	15.37:g.69715581A>G	ENSP00000260363:p.Tyr216Cys		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y216C	ENST00000260363.4	37	c.647	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770917	0.69992	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.055946	0.64402	D	0.000001	D	0.85448	0.5699	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.951;0.998;1.0	D	0.86549	0.1833	10	0.56958	D	0.05	.	14.7811	0.69769	1.0:0.0:0.0:0.0	.	19;216;216	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	C	216;216;216;19	ENSP00000260363:Y216C;ENSP00000304978:Y216C;ENSP00000378790:Y216C;ENSP00000442969:Y19C	ENSP00000260363:Y216C	Y	+	2	0	KIF23	67502635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.241000	0.78201	2.219000	0.72066	0.533000	0.62120	TAT	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.318	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		A			69715581	1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69715581	A	G	69715581	3	3	74	1	0	0	0	0	1	0	0	0	8311	449	16	5	673	5	KIF23	15	69715581	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	3102644	69715581	32815811	777	11472										
KIF23	9493	genome.wustl.edu	37	chr15	69715618	69715618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatattgaaatatataataaTtacatatatgatctattgga	4	2	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:69715618T>G	ENST00000260363.4	+	7	801	c.684T>G	c.(682-684)aaT>aaG	p.N228K	KIF23_ENST00000537891.1_Missense_Mutation_p.N31K|KIF23_ENST00000559279.1_Missense_Mutation_p.N228K|KIF23_ENST00000352331.4_Missense_Mutation_p.N228K|KIF23_ENST00000558585.1_Missense_Mutation_p.N31K|KIF23_ENST00000395392.2_Missense_Mutation_p.N228K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	228	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TATATAATAATTACATATATG	0.343																																																	0													28	33	31					15																	69715618		2191	4296	6487	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.684T>G	15.37:g.69715618T>G	ENSP00000260363:p.Asn228Lys		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N228K	ENST00000260363.4	37	c.684	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	T	15.06	2.719967	0.48728	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.53	-1.25	0.09405	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.76727	2.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.80730	-0.1252	10	0.62326	D	0.03	.	10.4485	0.44507	0.0:0.6276:0.0:0.3724	.	31;228;228	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	228;228;228;31	ENSP00000260363:N228K;ENSP00000304978:N228K;ENSP00000378790:N228K;ENSP00000442969:N31K	ENSP00000260363:N228K	N	+	3	2	KIF23	67502672	1.000000	0.71417	0.997000	0.53966	0.197000	0.23852	4.873000	0.63057	-0.081000	0.12662	-0.899000	0.02877	AAT	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.343	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		T			69715618	1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69715618	T	G	69715618	3	3	74	1	0	0	0	0	1	0	0	0	8311	1490	52	5	710	5	KIF23	15	69715618	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	37	69715618	32815774	778	11473										
NEIL1	79661	genome.wustl.edu	37	chr15	75644551	75644551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatggcattggcaactatctGcgggcagagatcctgtaccg	12	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:75644551G>A	ENST00000564784.1	+	4	1163	c.534G>A	c.(532-534)ctG>ctA	p.L178L	NEIL1_ENST00000355059.4_Silent_p.L178L|MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000569035.1_Silent_p.L178L|NEIL1_ENST00000567959.1_Intron|RP11-817O13.6_ENST00000563660.1_lincRNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	178					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCAACTATCTGCGGGCAGAGA	0.597								Base excision repair (BER), DNA glycosylases																																									0													88	80	83					15																	75644551		2197	4294	6491	SO:0001819	synonymous_variant	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.534G>A	15.37:g.75644551G>A			D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.L178	ENST00000564784.1	37	c.534	CCDS10278.1	15																																																																																			NEIL1	-	pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH		0.597	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	G	NM_024608		75644551	1	no_errors	ENST00000355059	ensembl	human	known	70_37	silent	SNP	0.734	A	A	75644551	G	A	75644551	2	1	74	1	0	0	0	0	0	0	0	1	10342	1306	46	4		4	NEIL1	15	75644551	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5928933	75644551	26886841	779	11474										
DET1	55070	genome.wustl.edu	37	chr15	89074464	89074464	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catctgggaggtaggcagctGagcccacgatgacacagcgg	15	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:89074464G>A	ENST00000268148.8	-	2	618	c.473C>T	c.(472-474)tCa>tTa	p.S158L	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.S169L|DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.S169L	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	158						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTAGGCAGCTGAGCCCACGAT	0.532																																																	0													46	46	46					15																	89074464		1991	4172	6163	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.473C>T	15.37:g.89074464G>A	ENSP00000268148:p.Ser158Leu		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.S169L	ENST00000268148.8	37	c.506	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991305	0.74703	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.054469	0.85682	D	0.000000	T	0.69691	0.3139	M	0.78049	2.395	0.80722	D	1	P;P	0.39326	0.668;0.668	B;B	0.40444	0.329;0.329	T	0.72849	-0.4168	9	0.87932	D	0	-16.1137	19.8676	0.96824	0.0:0.0:1.0:0.0	.	158;169	Q7L5Y6;B3KNN6	DET1_HUMAN;.	L	169;158	.	ENSP00000268148:S158L	S	-	2	0	DET1	86875468	1.000000	0.71417	0.969000	0.41365	0.999000	0.98932	7.293000	0.78740	2.941000	0.99782	0.655000	0.94253	TCA	DET1	-	pfam_De-etiolated_protein_1_Det1		0.532	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	G	NM_017996		89074464	-1	no_errors	ENST00000444300	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89074464	G	A	89074464	3	1	74	1	0	0	0	0	1	0	0	0	4460	1294	45	1	1195	1	DET1	15	89074464	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	13429913	89074464	13456928	780	11475										
ALDH1A3	220	genome.wustl.edu	37	chr15	101440802	101440802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacttggcagtggagtgtgcCcatcagggagtgttcttcaa	14	8	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:101440802C>T	ENST00000329841.5	+	9	1438	c.906C>T	c.(904-906)gcC>gcT	p.A302A	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.A195A	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	302					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	TGGAGTGTGCCCATCAGGGAG	0.602																																																	0													56	45	49					15																	101440802		2201	4299	6500	SO:0001819	synonymous_variant	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.906C>T	15.37:g.101440802C>T			Q6NT64	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A302	ENST00000329841.5	37	c.906	CCDS10389.1	15																																																																																			ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.602	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	C			101440802	1	no_errors	ENST00000329841	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101440802	C	T	101440802	2	4	74	1	0	0	0	0	0	0	0	1	492	610	22	4		4	ALDH1A3	15	101440802	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	12366338	101440802	1090590	781	11476										
PIGQ	9091	genome.wustl.edu	37	chr16	624416	624416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggccacccaccggcaagcGcccactgcccccggtgcccc	11	22	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:624416G>A	ENST00000026218.5	+	2	430	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PIGQ_ENST00000470411.2_Silent_p.A114A|PIGQ_ENST00000321878.5_Silent_p.A114A|PIGQ_ENST00000409527.2_Silent_p.A114A	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	114					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACCGGCAAGCGCCCACTGCCC	0.672																																																	0													20	18	19					16																	624416		2194	4295	6489	SO:0001819	synonymous_variant	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.342G>A	16.37:g.624416G>A			A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	pfam_GlcNAc_Gpi1	p.A114	ENST00000026218.5	37	c.342	CCDS10411.1	16																																																																																			PIGQ	-	NULL		0.672	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	G	NM_004204		624416	1	no_errors	ENST00000026218	ensembl	human	known	70_37	silent	SNP	0.001	A	A	624416	G	A	624416	2	1	74	1	0	0	0	0	0	0	0	1	11920	1074	38	2		2	PIGQ	16	624416	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09		624416	89730337	782	11477										
WDR90	197335	genome.wustl.edu	37	chr16	712707	712707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcatggaacacgagctggtgCtggacggggctgtggtgagt	18	7	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:712707C>T	ENST00000293879.4	+	34	4174	c.4174C>T	c.(4174-4176)Ctg>Ttg	p.L1392L	WDR90_ENST00000315764.4_5'Flank|WDR90_ENST00000547944.1_5'Flank|WDR90_ENST00000549091.1_Silent_p.L1394L			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1392										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGAGCTGGTGCTGGACGGGGC	0.632																																																	0													68	72	70					16																	712707		2137	4245	6382	SO:0001819	synonymous_variant	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4174C>T	16.37:g.712707C>T			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1394	ENST00000293879.4	37	c.4180	CCDS42092.1	16																																																																																			WDR90	-	superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom		0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	C	NM_145294		712707	1	no_errors	ENST00000549091	ensembl	human	novel	70_37	silent	SNP	0.994	T	T	712707	C	T	712707	2	4	74	1	0	0	0	0	0	0	0	1	17368	796	28	4		4	WDR90	16	712707	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	88291	712707	89642046	783	11478										
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1818599	1818599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aacgtgctggtgctgagcggCggggagggctacatcgactt	17	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:1818599C>T	ENST00000250894.4	+	31	4018	c.3861C>T	c.(3859-3861)ggC>ggT	p.G1287G	MAPK8IP3_ENST00000356010.5_Silent_p.G1281G	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1287					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGCTGAGCGGCGGGGAGGGCT	0.706																																																	0													17	28	24					16																	1818599		2036	4170	6206	SO:0001819	synonymous_variant	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3861C>T	16.37:g.1818599C>T			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.G1287	ENST00000250894.4	37	c.3861	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL		0.706	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	C	NM_001040439		1818599	1	no_errors	ENST00000250894	ensembl	human	known	70_37	silent	SNP	0.639	T	T	1818599	C	T	1818599	2	4	74	1	0	0	0	0	0	0	0	1	9309	755	27	2		2	MAPK8IP3	16	1818599	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1105892	1818599	88536154	784	11479										
SLC9A3R2	9351	genome.wustl.edu	37	chr16	2087934	2087934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccatgcgagtcaacaagcgCgcgccacagatggactggaa	13	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2087934C>T	ENST00000424542.2	+	7	1101	c.963C>T	c.(961-963)cgC>cgT	p.R321R	SLC9A3R2_ENST00000563587.1_Silent_p.R215R|SLC9A3R2_ENST00000566198.1_Silent_p.R210R|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000432365.2_Silent_p.R310R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	321					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						TCAACAAGCGCGCGCCACAGA	0.642																																					Ovarian(69;105 1552 17724 23473)												0													43	53	49					16																	2087934		2118	4214	6332	SO:0001819	synonymous_variant	9351			AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.963C>T	16.37:g.2087934C>T			D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Silent	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.R321	ENST00000424542.2	37	c.963	CCDS45382.1	16																																																																																			SLC9A3R2	-	pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF		0.642	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R2	HGNC	protein_coding	OTTHUMT00000434448.1	C			2087934	1	no_errors	ENST00000424542	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2087934	C	T	2087934	2	4	74	1	0	0	0	0	0	0	0	1	14745	755	27	2		2	SLC9A3R2	16	2087934	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	269335	2087934	88266819	785	11480										
PKD1	5310	genome.wustl.edu	37	chr16	2160693	2160693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtagctggcggggcgcccaCggcccacagcagagaacagg	17	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2160693C>T	ENST00000262304.4	-	15	4683	c.4475G>A	c.(4474-4476)cGt>cAt	p.R1492H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1492H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1492	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGGCGCCCACGGCCCACAGC	0.652																																																	0													12	16	15					16																	2160693		2141	4242	6383	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4475G>A	16.37:g.2160693C>T	ENSP00000262304:p.Arg1492His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R1492H	ENST00000262304.4	37	c.4475	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	2.188	-0.386051	0.04966	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62105	0.05;0.05	5.5	-3.61	0.04556	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	1.370350	0.04160	N	0.322820	T	0.49813	0.1579	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.15484	0.002;0.013	T	0.44112	-0.9349	10	0.38643	T	0.18	.	13.3177	0.60417	0.0:0.3705:0.0:0.6295	.	1492;1492	P98161-3;P98161	.;PKD1_HUMAN	H	1492;1492;1173	ENSP00000262304:R1492H;ENSP00000399501:R1492H	ENSP00000262304:R1492H	R	-	2	0	PKD1	2100694	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-1.020000	0.03618	-0.332000	0.08489	-0.282000	0.10007	CGT	PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2160693	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2160693	C	T	2160693	3	4	74	1	0	0	0	0	1	0	0	0	11987	536	19	2	8564	2	PKD1	16	2160693	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	72759	2160693	88194060	786	11481										
PKD1	5310	genome.wustl.edu	37	chr16	2168330	2168330	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccctgctccgagagggctgcGaggccctggccggtggagaa	17	13	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2168330G>C	ENST00000262304.4	-	5	871	c.663C>G	c.(661-663)ctC>ctG	p.L221L	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.L221L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	221	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAGGGCTGCGAGGCCCTGGC	0.701																																																	0													1	1	1					16																	2168330		929	1737	2666	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.663C>G	16.37:g.2168330G>C			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L221	ENST00000262304.4	37	c.663	CCDS32369.1	16																																																																																			PKD1	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2168330	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.000	C	C	2168330	G	C	2168330	2	2	74	1	0	0	0	0	0	0	0	1	11987	1045	37	1		1	PKD1	16	2168330	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7637	2168330	88186423	787	11482										
E4F1	1877	genome.wustl.edu	37	chr16	2285568	2285568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaggtgcagacggtcatcGtctagcatgaggtctgcggg	17	8	3	2	rs542965861		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2285568G>A	ENST00000301727.4	+	14	2398	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000565090.1_Missense_Mutation_p.V607I|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000564139.1_3'UTR|DNASE1L2_ENST00000382437.4_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	784					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GACGGTCATCGTCTAGCATGA	0.642													G|||	1	0.000199681	0	0	5008	,	,		17123	0		0.001	False		,,,				2504	0																0													14	11	12					16																	2285568		2177	4280	6457	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.2350G>A	16.37:g.2285568G>A	ENSP00000301727:p.Val784Ile		A8K2R4|O00146	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V784I	ENST00000301727.4	37	c.2350	CCDS32370.1	16	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568388	0.45798	.	.	ENSG00000167967	ENST00000301727	T	0.12465	2.68	4.98	4.98	0.66077	.	0.057531	0.64402	D	0.000001	T	0.14657	0.0354	N	0.24115	0.695	0.80722	D	1	D	0.63046	0.992	P	0.46885	0.53	T	0.01621	-1.1310	10	0.87932	D	0	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	784	Q66K89	E4F1_HUMAN	I	784	ENSP00000301727:V784I	ENSP00000301727:V784I	V	+	1	0	E4F1	2225569	.	.	0.944000	0.38274	0.079000	0.17450	.	.	2.595000	0.87683	0.561000	0.74099	GTC	E4F1	-	NULL		0.642	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	G	NM_004424		2285568	1	no_errors	ENST00000301727	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2285568	G	A	2285568	3	1	74	1	0	0	0	0	1	0	0	0	4884	1145	40	2	2404	2	E4F1	16	2285568	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	117238	2285568	88069185	788	11483										
AMDHD2	51005	genome.wustl.edu	37	chr16	2578499	2578499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgccttgggcctgggcaaCggccggcacacgctgggaca	15	15	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2578499C>T	ENST00000293971.6	+	8	1003	c.909C>T	c.(907-909)aaC>aaT	p.N303N	AMDHD2_ENST00000413459.3_Silent_p.N303N|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000302956.4_Silent_p.N303N	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	303					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCCTGGGCAACGGCCGGCACA	0.672																																																	0													39	36	37					16																	2578499		2198	4299	6497	SO:0001819	synonymous_variant	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.909C>T	16.37:g.2578499C>T			B4DL77|Q8WV54	Silent	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.N303	ENST00000293971.6	37	c.909		16																																																																																			AMDHD2	-	pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite		0.672	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435652.1	C	NM_015944		2578499	1	no_errors	ENST00000413459	ensembl	human	known	70_37	silent	SNP	0.863	T	T	2578499	C	T	2578499	2	4	74	1	0	0	0	0	0	0	0	1	568	535	19	2		2	AMDHD2	16	2578499	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	292931	2578499	87776254	789	11484										
MGRN1	23295	genome.wustl.edu	37	chr16	4738820	4738820	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcccacctccatggagacgGcccacggcctcgccaccacc	10	21	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:4738820G>A	ENST00000399577.5	+	0	4272				MGRN1_ENST00000588994.1_Missense_Mutation_p.A526T|MGRN1_ENST00000262370.7_Missense_Mutation_p.A548T|MGRN1_ENST00000586183.1_3'UTR|MGRN1_ENST00000415496.1_3'UTR	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CATGGAGACGGCCCACGGCCT	0.716																																																	0													6	11	9					16																	4738820		1981	4054	6035	SO:0001624	3_prime_UTR_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.*2520G>A	16.37:g.4738820G>A			A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A548T	ENST00000399577.5	37	c.1642	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094227	0.20471	.	.	ENSG00000102858	ENST00000262370	T	0.30182	1.54	4.67	2.65	0.31530	.	.	.	.	.	T	0.14184	0.0343	N	0.08118	0	0.26573	N	0.973518	B;B	0.18310	0.027;0.027	B;B	0.23574	0.047;0.031	T	0.32955	-0.9887	9	0.15066	T	0.55	-0.7222	6.7194	0.23323	0.0:0.6746:0.2232:0.1022	.	526;548	O60291-3;O60291-2	.;.	T	548	ENSP00000262370:A548T	ENSP00000262370:A548T	A	+	1	0	MGRN1	4678821	0.014000	0.17966	0.469000	0.27204	0.150000	0.21749	0.699000	0.25586	0.918000	0.36919	-0.211000	0.12701	GCC	MGRN1	-	NULL		0.716	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	G			4738820	1	no_errors	ENST00000262370	ensembl	human	known	70_37	missense	SNP	0.454	A	A	4738820	G	A	4738820	1	1	74	0	1	0	0	0	0	0	0	0	9582	1203	42	4		4	MGRN1	16	4738820	3'UTR	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2160321	4738820	85615933	790	11485										
PPL	5493	genome.wustl.edu	37	chr16	4942154	4942154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagggcctggatgaaggcttCgccctcagccgtgctccgcg	15	14	1	1	rs138181414		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:4942154C>T	ENST00000345988.2	-	15	1800	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	PPL_ENST00000590782.2_Missense_Mutation_p.E569K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	571					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATGAAGGCTTCGCCCTCAGCC	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		17983	0		0	False		,,,				2504	0																0								C	LYS/GLU	9,4385	15.5+/-35.6	0,9,2188	62	58	60		1711	3.4	0.2	16	dbSNP_134	60	0,8600		0,0,4300	yes	missense	PPL	NM_002705.4	56	0,9,6488	TT,TC,CC		0.0,0.2048,0.0693	benign	571/1757	4942154	9,12985	2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1711G>A	16.37:g.4942154C>T	ENSP00000340510:p.Glu571Lys		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E571K	ENST00000345988.2	37	c.1711	CCDS10526.1	16	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.84	1.758281	0.31137	0.002048	0.0	ENSG00000118898	ENST00000345988	T	0.25912	1.77	5.35	3.4	0.38934	.	0.379769	0.26646	N	0.023233	T	0.21509	0.0518	L	0.54323	1.7	0.41574	D	0.9887	P	0.42161	0.772	B	0.32583	0.148	T	0.04522	-1.0945	10	0.87932	D	0	.	11.2171	0.48833	0.0:0.8031:0.1275:0.0694	.	571	O60437	PEPL_HUMAN	K	571	ENSP00000340510:E571K	ENSP00000340510:E571K	E	-	1	0	PPL	4882155	0.968000	0.33430	0.250000	0.24296	0.102000	0.19082	1.873000	0.39558	0.640000	0.30582	-0.272000	0.10252	GAA	PPL	-	smart_Spectrin/alpha-actinin		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4942154	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.976	T	T	4942154	C	T	4942154	3	4	74	1	0	0	0	0	1	0	0	0	12361	893	31	1	3591	1	PPL	16	4942154	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	203334	4942154	85412599	791	11486										
CLEC16A	23274	genome.wustl.edu	37	chr16	11154829	11154829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggagcctgagacacagttgcCgctgactcgggaggaggacc	16	11	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:11154829C>T	ENST00000409790.1	+	19	2296	c.2066C>T	c.(2065-2067)cCg>cTg	p.P689L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P671L|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACACAGTTGCCGCTGACTCGG	0.572																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											146	158	154					16																	11154829		2196	4300	6496	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2066C>T	16.37:g.11154829C>T	ENSP00000387122:p.Pro689Leu			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.P689L	ENST00000409790.1	37	c.2066	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724408	0.89298	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.70631	-0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86469	0.1784	10	0.72032	D	0.01	-16.2364	15.3023	0.73962	0.0:1.0:0.0:0.0	.	689;671	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	689;689;671	ENSP00000387122:P689L	ENSP00000386495:P671L	P	+	2	0	CLEC16A	11062330	1.000000	0.71417	0.967000	0.41034	0.838000	0.47535	6.671000	0.74472	2.756000	0.94617	0.563000	0.77884	CCG	CLEC16A	-	NULL		0.572	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	C	NM_015226		11154829	1	no_errors	ENST00000409790	ensembl	human	known	70_37	missense	SNP	0.998	T	T	11154829	C	T	11154829	3	4	74	1	0	0	0	0	1	0	0	0	3505	652	23	2	2136	2	CLEC16A	16	11154829	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	6212675	11154829	79199924	792	11487										
ACSM2B	348158	genome.wustl.edu	37	chr16	20548681	20548681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggcaggttcaagacaaactCtatctgttgaaaaacaaatc	8	8	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:20548681C>G	ENST00000329697.6	-	14	1801	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E545Q|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E466Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E545Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	545					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E545*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGACAAACTCTATCTGTTGA	0.483																																																	1	Substitution - Nonsense(1)	lung(1)											168	158	161					16																	20548681		2202	4298	6500	SO:0001583	missense	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1633G>C	16.37:g.20548681C>G	ENSP00000327453:p.Glu545Gln		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E545Q	ENST00000329697.6	37	c.1633	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436603	0.43224	.	.	ENSG00000066813	ENST00000329697	T	0.57595	0.39	3.09	3.09	0.35607	.	0.000000	0.44097	D	0.000486	T	0.63367	0.2505	L	0.56340	1.77	0.80722	D	1	D	0.60160	0.987	P	0.61800	0.894	T	0.67237	-0.5721	10	0.52906	T	0.07	-29.7383	14.2581	0.66065	0.0:1.0:0.0:0.0	.	545	Q68CK6	ACS2B_HUMAN	Q	545	ENSP00000327453:E545Q	ENSP00000327453:E545Q	E	-	1	0	ACSM2B	20456182	0.999000	0.42202	0.877000	0.34402	0.159000	0.22180	4.308000	0.59129	1.707000	0.51288	0.609000	0.83330	GAG	ACSM2B	-	NULL		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	C	NM_182617		20548681	-1	no_errors	ENST00000329697	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20548681	C	G	20548681	3	3	74	1	0	0	0	0	1	0	0	0	184	922	32	1	104	1	ACSM2B	16	20548681	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	9393852	20548681	69806072	793	11488										
DCUN1D3	123879	genome.wustl.edu	37	chr16	20871455	20871455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgttaggaagtttagccatTggtccaataccggaggattg	12	7	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:20871455T>C	ENST00000324344.4	-	3	953	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.Q223R|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	223	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTTTAGCCATTGGTCCAATAC	0.527																																																	0													154	154	154					16																	20871455		2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.668A>G	16.37:g.20871455T>C	ENSP00000319482:p.Gln223Arg		B3KVY4	Missense_Mutation	SNP	pfam_PONY_dom	p.Q223R	ENST00000324344.4	37	c.668	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	T	8.942	0.966106	0.18659	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	Domain of unknown function DUF298 (2);	0.096254	0.64402	D	0.000001	T	0.27629	0.0679	N	0.01668	-0.77	0.50313	D	0.999864	B	0.11235	0.004	B	0.08055	0.003	T	0.19095	-1.0316	9	0.21014	T	0.42	-13.4862	16.6438	0.85155	0.0:0.0:0.0:1.0	.	223	Q8IWE4	DCNL3_HUMAN	R	223	.	ENSP00000319482:Q223R	Q	-	2	0	DCUN1D3	20778956	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.219000	0.51200	2.333000	0.79357	0.533000	0.62120	CAA	DCUN1D3	-	pfam_PONY_dom		0.527	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	T	NM_173475		20871455	-1	no_errors	ENST00000324344	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20871455	T	C	20871455	3	2	74	1	0	0	0	0	1	0	0	0	4320	1812	63	5	250	5	DCUN1D3	16	20871455	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	322774	20871455	69483298	794	11489										
ZP2	7783	genome.wustl.edu	37	chr16	21218297	21218297	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcatgactctgatggtcatCtggtgtccaccatgctgtgt	10	10	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:21218297C>G	ENST00000574002.1	-	6	827	c.345G>C	c.(343-345)caG>caC	p.Q115H	ZP2_ENST00000574091.1_Missense_Mutation_p.Q115H|ZP2_ENST00000219593.4_Missense_Mutation_p.Q115H|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	115					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGATGGTCATCTGGTGTCCAC	0.493																																																	0													201	161	174					16																	21218297		2199	4300	6499	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.345G>C	16.37:g.21218297C>G	ENSP00000460971:p.Gln115His		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.Q115H	ENST00000574002.1	37	c.345	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504939	0.44558	.	.	ENSG00000103310	ENST00000219593	T	0.30714	1.52	4.21	3.25	0.37280	.	0.665350	0.14669	N	0.305471	T	0.50463	0.1617	M	0.77103	2.36	0.28830	N	0.897178	D;D;D	0.89917	1.0;0.994;0.994	D;P;P	0.69479	0.964;0.838;0.838	T	0.40979	-0.9534	10	0.62326	D	0.03	-2.5042	7.2211	0.25988	0.0:0.8811:0.0:0.1189	.	115;115;115	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	H	115	ENSP00000219593:Q115H	ENSP00000219593:Q115H	Q	-	3	2	ZP2	21125798	0.967000	0.33354	0.997000	0.53966	0.388000	0.30384	0.671000	0.25172	2.337000	0.79520	0.591000	0.81541	CAG	ZP2	-	NULL		0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	C			21218297	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	missense	SNP	0.970	G	G	21218297	C	G	21218297	3	3	74	1	0	0	0	0	1	0	0	0	18246	912	32	1	1952	1	ZP2	16	21218297	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	346842	21218297	69136456	795	11490										
TNRC6A	27327	genome.wustl.edu	37	chr16	24835021	24835021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccccgcattattccacaagcCtgtggggtcccccaagcagc	9	17	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:24835021C>A	ENST00000395799.3	+	25	5911	c.5782C>A	c.(5782-5784)Ctg>Atg	p.L1928M	TNRC6A_ENST00000432286.2_Missense_Mutation_p.L406M|TNRC6A_ENST00000315183.7_Missense_Mutation_p.L1879M	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1928	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCACAAGCCTGTGGGGTCC	0.577																																																	0													72	79	77					16																	24835021		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5782C>A	16.37:g.24835021C>A	ENSP00000379144:p.Leu1928Met		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.L1928M	ENST00000395799.3	37	c.5782	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.42|14.42	2.530064|2.530064	0.45073|0.45073	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.48522|.	0.92;0.81|.	5.64|5.64	3.69|3.69	0.42338|0.42338	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.71013|0.71013	0.3290|0.3290	M|M	0.76838|0.76838	2.35|2.35	0.53688|0.53688	D|D	0.999975|0.999975	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.87578|.	0.998;0.997|.	T|T	0.69320|0.69320	-0.5176|-0.5176	10|5	0.54805|.	T|.	0.06|.	-3.3725|-3.3725	9.8692|9.8692	0.41164|0.41164	0.0:0.7904:0.0:0.2096|0.0:0.7904:0.0:0.2096	.|.	1879;1928|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	M|H	1879;1928;406|818	ENSP00000326900:L1879M;ENSP00000379144:L1928M|.	ENSP00000326900:L1879M|.	L|P	+|+	1|2	2|0	TNRC6A|TNRC6A	24742522|24742522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.093000|3.093000	0.50217|0.50217	0.733000|0.733000	0.32492|0.32492	0.651000|0.651000	0.88453|0.88453	CTG|CCT	TNRC6A	-	NULL		0.577	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24835021	1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24835021	C	A	24835021	3	1	74	1	0	0	0	0	1	0	0	0	16370	680	24	4	5880	4	TNRC6A	16	24835021	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3616724	24835021	65519732	796	11491										
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25255116	25255116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcaccttaccatttgggctCtgcagtagacctggaggtcc	11	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:25255116C>G	ENST00000328086.7	-	6	2774	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	657					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATTTGGGCTCTGCAGTAGAC	0.448																																																	0													121	123	122					16																	25255116		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1971G>C	16.37:g.25255116C>G	ENSP00000331626:p.Gln657His		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q657H	ENST00000328086.7	37	c.1971	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050598	0.36181	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.08193	3.12	5.32	0.201	0.15186	.	0.285984	0.25869	N	0.027764	T	0.09512	0.0234	L	0.56769	1.78	0.32246	N	0.572125	P;P	0.48407	0.799;0.91	P;P	0.45946	0.498;0.498	T	0.14727	-1.0462	10	0.51188	T	0.08	-7.9733	4.1478	0.10224	0.0:0.3167:0.179:0.5043	.	453;657	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	H	657	ENSP00000331626:Q657H	ENSP00000331626:Q657H	Q	-	3	2	ZKSCAN2	25162617	0.405000	0.25336	0.996000	0.52242	0.743000	0.42351	0.205000	0.17356	0.042000	0.15717	0.467000	0.42956	CAG	ZKSCAN2	-	NULL		0.448	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25255116	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.992	G	G	25255116	C	G	25255116	3	3	74	1	0	0	0	0	1	0	0	0	17717	912	32	1	940	1	ZKSCAN2	16	25255116	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	420095	25255116	65099637	797	11492										
C16orf53	79447	genome.wustl.edu	37	chr16	29828234	29828234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtactctggagctgcaagccGagatcctgccccgccggcct	12	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:29828234G>A	ENST00000320330.6	+	1	950	c.388G>A	c.(388-390)Gag>Aag	p.E130K	AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.E130K|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	130	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											GCTGCAAGCCGAGATCCTGCC	0.647											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	16	15					16																	29828234		2173	4267	6440	SO:0001583	missense	79447			BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.388G>A	16.37:g.29828234G>A	ENSP00000326519:p.Glu130Lys	812	A2ICR6	Missense_Mutation	SNP	NULL	p.E130K	ENST00000320330.6	37	c.388	CCDS10655.1	16	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889547	0.72524	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.17	4.18	0.49190	.	0.315979	0.33813	N	0.004528	T	0.14098	0.0341	N	0.13098	0.295	0.24817	N	0.992606	P	0.42456	0.78	B	0.24701	0.055	T	0.07927	-1.0747	9	0.30078	T	0.28	-4.537	13.6274	0.62173	0.0:0.1568:0.8432:0.0	.	130	Q9BTK6	PA1_HUMAN	K	130	.	ENSP00000326519:E130K	E	+	1	0	C16orf53	29735735	1.000000	0.71417	0.638000	0.29380	0.338000	0.28826	6.407000	0.73280	1.272000	0.44329	0.655000	0.94253	GAG	PAGR1	-	NULL		0.647	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	PAGR1	HGNC	protein_coding	OTTHUMT00000473165.1	G	NM_024516		29828234	1	no_errors	ENST00000320330	ensembl	human	known	70_37	missense	SNP	0.885	A	A	29828234	G	A	29828234	3	1	74	1	0	0	0	0	1	0	0	0	1822	1059	37	1	390	1	C16orf53	16	29828234	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4573118	29828234	60526519	798	11493										
MYLPF	1731	genome.wustl.edu	37	chr16	30387760	30387760	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaggccgcctcaatgtgaaGaatgaggagttggatgccat	13	9	1	3	rs199748785		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:30387760G>C	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.K63N			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCAATGTGAAGAATGAGGAGT	0.592																																																	0													108	110	110					16																	30387760		2197	4300	6497	SO:0001628	intergenic_variant	29895			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387760G>C			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K63N	ENST00000571393.1	37	c.189		16	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311047	0.40895	.	.	ENSG00000180209	ENST00000322861	T	0.78595	-1.19	5.49	0.905	0.19307	EF-hand-like domain (1);	0.045148	0.85682	D	0.000000	T	0.79387	0.4437	L	0.38649	1.16	0.53688	D	0.999973	D	0.63880	0.993	D	0.78314	0.991	T	0.74604	-0.3610	10	0.42905	T	0.14	.	9.8418	0.41004	0.3114:0.0:0.6886:0.0	.	63	Q96A32	MLRS_HUMAN	N	63	ENSP00000325239:K63N	ENSP00000325239:K63N	K	+	3	2	MYLPF	30295261	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	2.445000	0.44899	-0.035000	0.13691	-0.373000	0.07131	AAG	MYLPF	-	NULL		0.592	SEPT1-201	KNOWN	basic	protein_coding	MYLPF	HGNC	protein_coding		G	NM_052838		30387760	1	no_errors	ENST00000322861	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30387760	G	C	30387760	1	2	74	0	1	0	0	0	0	0	0	0	10083	933	33	1		1	MYLPF	16	30387760	IGR	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	559526	30387760	59966993	799	11494										
PRR14	78994	genome.wustl.edu	37	chr16	30666707	30666707	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agggaaggagccaagagcctCaaaggaccaggtgctttcag	14	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:30666707C>G	ENST00000542965.2	+	8	1736	c.1280C>G	c.(1279-1281)tCa>tGa	p.S427*	PRR14_ENST00000300835.4_Nonsense_Mutation_p.S427*|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	427										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCAAGAGCCTCAAAGGACCAG	0.542																																																	0													101	95	97					16																	30666707		2197	4300	6497	SO:0001587	stop_gained	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1280C>G	16.37:g.30666707C>G	ENSP00000441641:p.Ser427*		Q8WTX2	Nonsense_Mutation	SNP	NULL	p.S427*	ENST00000542965.2	37	c.1280	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.958496	0.97964	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	4.97	4.01	0.46588	.	0.680972	0.13173	N	0.408100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.5181	9.1963	0.37231	0.0:0.8977:0.0:0.1023	.	.	.	.	X	400;427;427	.	ENSP00000287463:S400X	S	+	2	0	PRR14	30574208	0.281000	0.24258	0.639000	0.29394	0.959000	0.62525	3.854000	0.55949	1.079000	0.41038	0.313000	0.20887	TCA	PRR14	-	NULL		0.542	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	C	NM_024031		30666707	1	no_errors	ENST00000300835	ensembl	human	known	70_37	nonsense	SNP	0.484	G	G	30666707	C	G	30666707	4	3	74	1	0	0	0	0	0	1	0	0	12613	838	29	1	1310	1	PRR14	16	30666707	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	278947	30666707	59688046	800	11495										
PHKB	5257	genome.wustl.edu	37	chr16	47699866	47699866	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccccaggtcggttgtacgcCgtgcagcaagtcttttaagt	11	12	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:47699866C>T	ENST00000323584.5	+	25	2451				PHKB_ENST00000566044.1_Missense_Mutation_p.R777C|PHKB_ENST00000299167.8_Missense_Mutation_p.R784C|PHKB_ENST00000455779.1_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGTTGTACGCCGTGCAGCAAG	0.458																																																	0													88	87	88					16																	47699866		1898	4121	6019	SO:0001627	intron_variant	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2427+980C>T	16.37:g.47699866C>T			Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R784C	ENST00000323584.5	37	c.2350	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358929	0.41801	.	.	ENSG00000102893	ENST00000299167	.	.	.	5.21	2.87	0.33458	.	.	.	.	.	T	0.53367	0.1792	L	0.57536	1.79	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.54417	-0.8297	8	0.48119	T	0.1	.	6.4629	0.21966	0.0:0.6709:0.0:0.3291	.	25;777	B3KVX5;Q93100-4	.;.	C	777	.	ENSP00000299167:R777C	R	+	1	0	PHKB	46257367	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.014000	0.40951	1.321000	0.45227	-0.142000	0.14014	CGT	PHKB	-	pfam_Glyco_hydro_15		0.458	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	C			47699866	1	no_errors	ENST00000299167	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47699866	C	T	47699866	1	4	74	0	1	0	0	0	0	0	0	0	11869	652	23	2		2	PHKB	16	47699866	Intron	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	17033159	47699866	42654887	801	11496										
C16orf78	123970	genome.wustl.edu	37	chr16	49433075	49433075	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccaaggagaacattcggacCttgctcaagttgtgcaagga	11	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:49433075C>A	ENST00000299191.3	+	5	801	c.684C>A	c.(682-684)acC>acA	p.T228T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	228						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						ACATTCGGACCTTGCTCAAGT	0.453																																																	0													134	110	118					16																	49433075		2199	4300	6499	SO:0001819	synonymous_variant	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.684C>A	16.37:g.49433075C>A				Silent	SNP	NULL	p.T228	ENST00000299191.3	37	c.684	CCDS10738.1	16																																																																																			C16orf78	-	NULL		0.453	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	C	NM_144602		49433075	1	no_errors	ENST00000299191	ensembl	human	known	70_37	silent	SNP	0.999	A	A	49433075	C	A	49433075	2	1	74	1	0	0	0	0	0	0	0	1	1839	668	24	4		4	C16orf78	16	49433075	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1733209	49433075	40921678	802	11497										
SNX20	124460	genome.wustl.edu	37	chr16	50707340	50707340	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgcaggtattctcgcacagTgagctccttcagggtgatgc	13	10	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:50707340T>A	ENST00000330943.4	-	4	1099	c.928A>T	c.(928-930)Act>Tct	p.T310S	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	310					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCGCACAGTGAGCTCCTTC	0.637																																																	0													54	59	58					16																	50707340		2198	4300	6498	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.928A>T	16.37:g.50707340T>A	ENSP00000332062:p.Thr310Ser		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.T310S	ENST00000330943.4	37	c.928	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795774	0.31777	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.30981	1.51	5.67	-0.721	0.11189	.	0.420327	0.26955	N	0.021646	T	0.28962	0.0719	M	0.65975	2.015	0.09310	N	1	B	0.27229	0.172	B	0.25140	0.058	T	0.27606	-1.0069	10	0.49607	T	0.09	-11.3454	11.4695	0.50259	0.0:0.5429:0.0:0.4571	.	310	Q7Z614	SNX20_HUMAN	S	310;146	ENSP00000332062:T310S	ENSP00000332062:T310S	T	-	1	0	SNX20	49264841	0.745000	0.28261	0.026000	0.17262	0.007000	0.05969	0.414000	0.21164	-0.126000	0.11682	-0.366000	0.07423	ACT	SNX20	-	NULL		0.637	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	T	NM_153337		50707340	-1	no_errors	ENST00000330943	ensembl	human	known	70_37	missense	SNP	0.047	A	A	50707340	T	A	50707340	3	1	74	1	0	0	0	0	1	0	0	0	14922	1696	59	5	169	5	SNX20	16	50707340	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1274265	50707340	39647413	803	11498										
CYLD	1540	genome.wustl.edu	37	chr16	50813848	50813848	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgggaactcacatggtctaGaagtgggctcattggctgaa	13	8	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:50813848G>C	ENST00000427738.3	+	8	1616	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	CYLD_ENST00000564326.1_Missense_Mutation_p.E468Q|CYLD_ENST00000540145.1_Missense_Mutation_p.E471Q|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.E468Q|CYLD_ENST00000569418.1_Missense_Mutation_p.E468Q|CYLD_ENST00000398568.2_Missense_Mutation_p.E468Q|CYLD_ENST00000311559.9_Missense_Mutation_p.E471Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	471	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ACATGGTCTAGAAGTGGGCTC	0.527			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													85	85	85					16																	50813848		1954	4141	6095	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1411G>C	16.37:g.50813848G>C	ENSP00000392025:p.Glu471Gln		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19	p.E471Q	ENST00000427738.3	37	c.1411	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717657	0.89205	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.74947	-0.89;-0.89;-0.89	5.6	5.6	0.85130	Cytoskeleton-associated protein, Gly-rich domain (2);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;D;D;D	0.80764	0.986;0.994;0.994;0.986	T	0.79867	-0.1622	10	0.44086	T	0.13	-28.6272	19.6251	0.95674	0.0:0.0:1.0:0.0	.	468;471;468;471	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	Q	471;471;468;468	ENSP00000445447:E471Q;ENSP00000308928:E471Q;ENSP00000381574:E468Q	ENSP00000308928:E471Q	E	+	1	0	CYLD	49371349	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	9.240000	0.95396	2.636000	0.89361	0.655000	0.94253	GAA	CYLD	-	superfamily_CAP-Gly_domain		0.527	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	G			50813848	1	no_errors	ENST00000311559	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50813848	G	C	50813848	3	2	74	1	0	0	0	0	1	0	0	0	4148	943	33	1	1437	1	CYLD	16	50813848	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	106508	50813848	39540905	804	11499										
IRX6	79190	genome.wustl.edu	37	chr16	55362828	55362828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagggagtgcggcctggctgCgccccgcttctccttcaatg	13	15	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:55362828C>T	ENST00000290552.7	+	5	2270	c.938C>T	c.(937-939)gCg>gTg	p.A313V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	313					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGCCTGGCTGCGCCCCGCTTC	0.647																																																	0													43	46	45					16																	55362828		2198	4296	6494	SO:0001583	missense	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.938C>T	16.37:g.55362828C>T	ENSP00000290552:p.Ala313Val		B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A313V	ENST00000290552.7	37	c.938	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	C	6.648	0.488077	0.12641	.	.	ENSG00000159387	ENST00000290552	D	0.89343	-2.5	5.27	3.31	0.37934	.	0.604497	0.17419	N	0.174918	T	0.76428	0.3986	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.58825	-0.7568	10	0.15499	T	0.54	-1.5821	8.3805	0.32468	0.0:0.8126:0.0:0.1874	.	313	P78412	IRX6_HUMAN	V	313	ENSP00000290552:A313V	ENSP00000290552:A313V	A	+	2	0	IRX6	53920329	0.000000	0.05858	0.012000	0.15200	0.022000	0.10575	0.058000	0.14301	0.596000	0.29794	0.462000	0.41574	GCG	IRX6	-	NULL		0.647	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	C	NM_024335		55362828	1	no_errors	ENST00000290552	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55362828	C	T	55362828	3	4	74	1	0	0	0	0	1	0	0	0	7868	768	27	2	956	2	IRX6	16	55362828	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	4548980	55362828	34991925	805	11500										
LPCAT2	54947	genome.wustl.edu	37	chr16	55543252	55543252	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagacgcagatcggctccgcGaggcgggtccaggtgagggg	19	11	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:55543252G>A	ENST00000262134.5	+	1	343	c.159G>A	c.(157-159)gcG>gcA	p.A53A		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	53					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCGGCTCCGCGAGGCGGGTCC	0.706																																																	0													9	12	11					16																	55543252		1719	3616	5335	SO:0001819	synonymous_variant	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.159G>A	16.37:g.55543252G>A			A3KBM1|Q6MZJ6|Q9NX23	Silent	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.A53	ENST00000262134.5	37	c.159	CCDS10753.1	16																																																																																			LPCAT2	-	NULL		0.706	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	G	NM_017839		55543252	1	no_errors	ENST00000262134	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55543252	G	A	55543252	2	1	74	1	0	0	0	0	0	0	0	1	8934	1045	37	1		1	LPCAT2	16	55543252	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	180424	55543252	34811501	806	11501										
KATNB1	10300	genome.wustl.edu	37	chr16	57778385	57778385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catcgtggccggctctcagtCgggctccatccgtgtctggg	14	14	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:57778385C>T	ENST00000379661.3	+	4	643	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGCTCTCAGTCGGGCTCCATC	0.632																																																	0													89	89	89					16																	57778385		2198	4300	6498	SO:0001583	missense	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.251C>T	16.37:g.57778385C>T	ENSP00000368982:p.Ser84Leu			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S84L	ENST00000379661.3	37	c.251	CCDS10788.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.910249	0.97093	.	.	ENSG00000140854	ENST00000379661	T	0.60299	0.2	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77389	-0.2606	10	0.72032	D	0.01	-40.5638	18.3966	0.90501	0.0:1.0:0.0:0.0	.	84	Q9BVA0	KTNB1_HUMAN	L	84	ENSP00000368982:S84L	ENSP00000368982:S84L	S	+	2	0	KATNB1	56335886	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.509000	0.81698	2.593000	0.87608	0.655000	0.94253	TCG	KATNB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.632	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3	C			57778385	1	no_errors	ENST00000379661	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57778385	C	T	57778385	3	4	74	1	0	0	0	0	1	0	0	0	8007	893	31	1	261	1	KATNB1	16	57778385	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2235133	57778385	32576368	807	11502										
PARD6A	50855	genome.wustl.edu	37	chr16	67696338	67696338	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcctgggcctgctgagcctGatagtgacgatgacagcagt	15	10	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:67696338G>C	ENST00000219255.3	+	3	909	c.829G>C	c.(829-831)Gat>Cat	p.D277H	ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.D247H|PARD6A_ENST00000458121.2_Missense_Mutation_p.D276H|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	277					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGCTGAGCCTGATAGTGACGA	0.632																																																	0													74	63	66					16																	67696338		2198	4300	6498	SO:0001583	missense	50855				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"par-6 (partitioning defective 6, C.elegans) homolog alpha", "par-6 partitioning defective 6 homolog alpha (C. elegans)"			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.829G>C	16.37:g.67696338G>C	ENSP00000219255:p.Asp277His		O14911|Q9NPJ7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.D277H	ENST00000219255.3	37	c.829	CCDS10843.1	16	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282778	0.59867	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.39787	1.07;1.06	5.25	5.25	0.73442	.	0.553114	0.17827	N	0.160644	T	0.52565	0.1742	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.56287	0.957;0.975	P;P	0.57720	0.674;0.826	T	0.52019	-0.8631	10	0.52906	T	0.07	-4.4801	18.4311	0.90625	0.0:0.0:1.0:0.0	.	277;276	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	H	276;277	ENSP00000392388:D276H;ENSP00000219255:D277H	ENSP00000219255:D277H	D	+	1	0	PARD6A	66253839	1.000000	0.71417	0.088000	0.20740	0.813000	0.45954	8.267000	0.89874	2.428000	0.82296	0.563000	0.77884	GAT	PARD6A	-	NULL		0.632	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD6A	HGNC	protein_coding	OTTHUMT00000268863.2	G	NM_016948		67696338	1	no_errors	ENST00000219255	ensembl	human	known	70_37	missense	SNP	0.995	C	C	67696338	G	C	67696338	3	2	74	1	0	0	0	0	1	0	0	0	11469	1290	45	1	839	1	PARD6A	16	67696338	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	9917953	67696338	22658415	808	11503										
RANBP10	57610	genome.wustl.edu	37	chr16	67761744	67761744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgcggccaaacagaatgatCctttctgtggcagcctggtt	11	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:67761744C>A	ENST00000317506.3	-	12	1645	c.1530G>T	c.(1528-1530)agG>agT	p.R510S	RANBP10_ENST00000448631.2_Missense_Mutation_p.R484S|RANBP10_ENST00000602677.1_Missense_Mutation_p.R540S|RANBP10_ENST00000411657.2_Missense_Mutation_p.R423S|RANBP10_ENST00000536251.1_Missense_Mutation_p.R281S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	510					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ACAGAATGATCCTTTCTGTGG	0.582																																																	0													52	46	48					16																	67761744		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1530G>T	16.37:g.67761744C>A	ENSP00000316589:p.Arg510Ser		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R510S	ENST00000317506.3	37	c.1530	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244534	0.79912	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.93	2.4	0.29515	Ran binding protein-like, CRA domain (1);Ran binding protein, CRA domain (1);	0.045464	0.85682	D	0.000000	T	0.67069	0.2854	L	0.54323	1.7	0.80722	D	1	B;D;D	0.64830	0.052;0.994;0.988	B;D;D	0.75020	0.112;0.985;0.95	T	0.66995	-0.5782	9	0.66056	D	0.02	-21.3231	9.3036	0.37861	0.0:0.6107:0.0:0.3893	.	423;484;510	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	S	510;484;281;423	.	ENSP00000316589:R510S	R	-	3	2	RANBP10	66319245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.444000	0.35068	0.791000	0.33826	0.563000	0.77884	AGG	RANBP10	-	pfam_CTLH/CRA,smart_CRA_dom		0.582	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	C	NM_020850		67761744	-1	no_errors	ENST00000317506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67761744	C	A	67761744	3	1	74	1	0	0	0	0	1	0	0	0	13056	854	30	3	344	3	RANBP10	16	67761744	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	65406	67761744	22593009	809	11504										
FUK	197258	genome.wustl.edu	37	chr16	70513169	70513169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgtgagcccctgactgtgCggcgtatgatggatgtcctg	15	10	0	3	rs377157126		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:70513169C>T	ENST00000288078.6	+	23	3248	c.3016C>T	c.(3016-3018)Cgg>Tgg	p.R1006W	FUK_ENST00000378912.2_Missense_Mutation_p.R1012W|FUK_ENST00000571514.1_Missense_Mutation_p.R497W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1006						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGACTGTGCGGCGTATGAT	0.637																																																	0								C	TRP/ARG	0,4166		0,0,2083	44	48	47		3016	4.5	1	16		47	1,8421		0,1,4210	no	missense	FUK	NM_145059.2	101	0,1,6293	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	1006/1085	70513169	1,12587	2083	4211	6294	SO:0001583	missense	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3016C>T	16.37:g.70513169C>T	ENSP00000288078:p.Arg1006Trp		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.R1012W	ENST00000288078.6	37	c.3034	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864797	0.32977	0.0	1.19E-4	ENSG00000157353	ENST00000288078;ENST00000378912	D;D	0.93712	-3.27;-3.27	4.54	4.54	0.55810	GHMP kinase, C-terminal (1);	0.220859	0.43919	D	0.000502	D	0.94883	0.8346	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.60886	0.799;0.88;0.828	D	0.94637	0.7827	10	0.72032	D	0.01	-17.3456	9.5771	0.39465	0.147:0.6902:0.1628:0.0	.	1012;912;1006	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	W	1006;1012	ENSP00000288078:R1006W;ENSP00000368192:R1012W	ENSP00000288078:R1006W	R	+	1	2	FUK	69070670	0.962000	0.33011	1.000000	0.80357	0.996000	0.88848	0.843000	0.27640	2.356000	0.79943	0.655000	0.94253	CGG	FUK	-	pfam_GHMP_kinase_C_dom		0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	C	NM_145059		70513169	1	no_errors	ENST00000378912	ensembl	human	known	70_37	missense	SNP	0.999	T	T	70513169	C	T	70513169	3	4	74	1	0	0	0	0	1	0	0	0	6114	759	27	2	3102	2	FUK	16	70513169	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2751425	70513169	19841584	810	11505										
HYDIN	54768	genome.wustl.edu	37	chr16	70908781	70908781	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcggtggtgggcctccctttCagggagaagactcctagctc	14	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:70908781C>T	ENST00000393567.2	-	63	10749	c.10599G>A	c.(10597-10599)ctG>ctA	p.L3533L	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3533					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCTCCCTTTCAGGGAGAAGA	0.512																																																	0													39	37	37					16																	70908781		1833	4078	5911	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10599G>A	16.37:g.70908781C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L3532	ENST00000393567.2	37	c.10596	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70908781	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.999	T	T	70908781	C	T	70908781	2	4	74	1	0	0	0	0	0	0	0	1	7487	813	29	1		1	HYDIN	16	70908781	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	395612	70908781	19445972	811	11506										
HYDIN	54768	genome.wustl.edu	37	chr16	71218810	71218810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atatctaagagttcgatgatCtgtggtcggcacatcaaacg	10	8	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:71218810C>G	ENST00000393567.2	-	3	369	c.219G>C	c.(217-219)caG>caC	p.Q73H	HYDIN_ENST00000448089.2_Missense_Mutation_p.Q73H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q100H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q73H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q73H|HYDIN_ENST00000393550.2_Missense_Mutation_p.Q73H|HYDIN_ENST00000288168.10_Missense_Mutation_p.Q90H|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q90H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	73					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCGATGATCTGTGGTCGGC	0.458																																																	0													171	152	158					16																	71218810		2198	4299	6497	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.219G>C	16.37:g.71218810C>G	ENSP00000377197:p.Gln73His		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.Q73H	ENST00000393567.2	37	c.219	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499772	0.44455	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.15139	5.53;3.69;3.69;3.69;3.68;3.68;3.32;2.45	5.86	4.91	0.64330	.	0.372941	0.15840	U	0.242073	T	0.30978	0.0782	M	0.63843	1.955	0.29012	N	0.886827	B;B;B;B;D	0.59767	0.313;0.313;0.098;0.313;0.986	B;B;B;B;P	0.54312	0.234;0.234;0.11;0.234;0.748	T	0.13629	-1.0502	10	0.59425	D	0.04	.	11.7473	0.51828	0.0:0.8089:0.1238:0.0672	.	100;90;90;73;73	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	H	73;73;73;73;73;100;90;90;73	ENSP00000377197:Q73H;ENSP00000398544:Q73H;ENSP00000394826:Q73H;ENSP00000314736:Q73H;ENSP00000444970:Q100H;ENSP00000437341:Q90H;ENSP00000288168:Q90H;ENSP00000377181:Q73H	ENSP00000288168:Q90H	Q	-	3	2	HYDIN	69776311	0.981000	0.34729	1.000000	0.80357	0.947000	0.59692	0.677000	0.25262	1.491000	0.48482	0.655000	0.94253	CAG	HYDIN	-	NULL		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71218810	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71218810	C	G	71218810	3	3	74	1	0	0	0	0	1	0	0	0	7487	912	32	1	15491	1	HYDIN	16	71218810	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	310029	71218810	19135943	812	11507										
MARVELD3	91862	genome.wustl.edu	37	chr16	71674336	71674336	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcttgaatgggatggttctCatatgcatcgtggcctccta	11	9	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:71674336C>T	ENST00000299952.4	+	3	682	c.639C>T	c.(637-639)ctC>ctT	p.L213L	MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_Intron|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	213	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGATGGTTCTCATATGCATCG	0.532																																																	0													201	166	178					16																	71674336		2198	4300	6498	SO:0001819	synonymous_variant	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.639C>T	16.37:g.71674336C>T			A8K820|H3BQM5|Q96MJ4	Silent	SNP	NULL	p.L213	ENST00000299952.4	37	c.639	CCDS32478.1	16																																																																																			MARVELD3	-	NULL		0.532	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD3	HGNC	protein_coding	OTTHUMT00000268990.1	C	NM_052858		71674336	1	no_errors	ENST00000299952	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71674336	C	T	71674336	2	4	74	1	0	0	0	0	0	0	0	1	9342	813	29	1		1	MARVELD3	16	71674336	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	455526	71674336	18680417	813	11508										
DHX38	9785	genome.wustl.edu	37	chr16	72142801	72142801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccccagattacatagtgtatCacgagttggtcatgaccacc	8	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:72142801C>T	ENST00000268482.3	+	24	3867	c.3358C>T	c.(3358-3360)Cac>Tac	p.H1120Y	DHX38_ENST00000536867.1_Missense_Mutation_p.H432Y	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1120					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATAGTGTATCACGAGTTGGT	0.542																																					Melanoma(97;711 1442 7855 13832 28836)												0													78	64	69					16																	72142801		2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3358C>T	16.37:g.72142801C>T	ENSP00000268482:p.His1120Tyr		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1120Y	ENST00000268482.3	37	c.3358	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922424	0.92319	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02656	4.21;4.21	5.14	5.14	0.70334	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.02683	-1.1124	10	0.52906	T	0.07	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	432;1120	B4DVG8;Q92620	.;PRP16_HUMAN	Y	1120;432	ENSP00000268482:H1120Y;ENSP00000437898:H432Y	ENSP00000268482:H1120Y	H	+	1	0	DHX38	70700302	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.097000	0.76967	2.677000	0.91161	0.655000	0.94253	CAC	DHX38	-	pfam_DUF1605		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	C	NM_014003		72142801	1	no_errors	ENST00000268482	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72142801	C	T	72142801	3	4	74	1	0	0	0	0	1	0	0	0	4521	826	29	1	3448	1	DHX38	16	72142801	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	468465	72142801	18211952	814	11509										
ZFHX3	463	genome.wustl.edu	37	chr16	72821213	72821213	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaatagtcgtctgttggcatCgagggctgaacccctgaggt	14	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:72821213C>G	ENST00000268489.5	-	10	11634	c.10962G>C	c.(10960-10962)tcG>tcC	p.S3654S	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2740S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3654					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTGGCATCGAGGGCTGAA	0.602																																																	0													88	87	87					16																	72821213		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10962G>C	16.37:g.72821213C>G			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S3654	ENST00000268489.5	37	c.10962	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72821213	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	G	G	72821213	C	G	72821213	2	3	74	1	0	0	0	0	0	0	0	1	17664	871	31	1		1	ZFHX3	16	72821213	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	678412	72821213	17533540	815	11510										
ZFHX3	463	genome.wustl.edu	37	chr16	72828826	72828826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccccagagagcagctggctGgccaggagtgggttactggg	18	10	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:72828826G>A	ENST00000268489.5	-	9	8427	c.7755C>T	c.(7753-7755)gcC>gcT	p.A2585A	ZFHX3_ENST00000397992.5_Silent_p.A1671A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2585					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGCTGGCTGGCCAGGAGTG	0.542																																																	0													80	82	81					16																	72828826		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7755C>T	16.37:g.72828826G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2585	ENST00000268489.5	37	c.7755	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72828826	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	0.446	A	A	72828826	G	A	72828826	2	1	74	1	0	0	0	0	0	0	0	1	17664	1335	47	4		4	ZFHX3	16	72828826	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	7613	72828826	17525927	816	11511										
GINS2	51659	genome.wustl.edu	37	chr16	85711932	85711932	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgttgatctccatcaaggtCaagttatccagctaaagcaa	8	9	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:85711932C>T	ENST00000253462.3	-	5	544	c.444G>A	c.(442-444)ttG>ttA	p.L148L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	148					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CCATCAAGGTCAAGTTATCCA	0.433																																																	0													87	82	84					16																	85711932		2198	4300	6498	SO:0001819	synonymous_variant	51659			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.444G>A	16.37:g.85711932C>T			D3DUM5|Q6IAG9	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.L148	ENST00000253462.3	37	c.444	CCDS10953.1	16																																																																																			GINS2	-	pfam_GINS_complex,pirsf_GINS_Psf2_subgr		0.433	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	C	NM_016095		85711932	-1	no_errors	ENST00000253462	ensembl	human	known	70_37	silent	SNP	1.000	T	T	85711932	C	T	85711932	2	4	74	1	0	0	0	0	0	0	0	1	6407	825	29	1		1	GINS2	16	85711932	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	12883106	85711932	4642821	817	11512										
MVD	4597	genome.wustl.edu	37	chr16	88725118	88725118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcagaaccagctcttcatcGcgcttgccccctgtaatgaa	9	14	2	2	rs370058051		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:88725118G>A	ENST00000301012.3	-	2	110	c.81C>T	c.(79-81)cgC>cgT	p.R27R	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	27					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTCTTCATCGCGCTTGCCCC	0.637													G|||	1	0.000199681	0	0	5008	,	,		10572	0		0.001	False		,,,				2504	0																0								G		0,4396		0,0,2198	134	103	113		81	-8.1	0.9	16		113	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MVD	NM_002461.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		27/401	88725118	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	4597			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.81C>T	16.37:g.88725118G>A			Q53Y65	Nonsense_Mutation	SNP	NULL	p.R51*	ENST00000301012.3	37	c.151	CCDS10968.1	16																																																																																			MVD	-	NULL		0.637	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVD	HGNC	protein_coding	OTTHUMT00000269547.2	G	NM_002461		88725118	-1	no_errors	ENST00000567064	ensembl	human	known	70_37	nonsense	SNP	0.297	A	A	88725118	G	A	88725118	2	1	74	1	0	0	0	0	0	0	0	1	10017	1074	38	2		2	MVD	16	88725118	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3013186	88725118	1629635	818	11513										
CDT1	81620	genome.wustl.edu	37	chr16	88871169	88871169	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtcccctgatccccctgaaGgacaccatctctgagcttgc	8	16	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:88871169G>T	ENST00000301019.4	+	3	970		c.e3-1			NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TCCCCCTGAAGGACACCATCT	0.701																																					Melanoma(159;511 3380 30971)												0													33	33	33					16																	88871169		2196	4300	6496	SO:0001630	splice_region_variant	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.352-1G>T	16.37:g.88871169G>T				Splice_Site	SNP	-	e3-1	ENST00000301019.4	37	c.352-1	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	G	7.368	0.626298	0.14257	.	.	ENSG00000167513	ENST00000301019	.	.	.	4.26	-0.245	0.13027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2841	0.31917	0.3677:0.0:0.6323:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDT1	87398670	0.000000	0.05858	0.031000	0.17742	0.010000	0.07245	-0.500000	0.06405	0.030000	0.15379	0.449000	0.29647	.	CDT1	-	-		0.701	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	G	NM_030928	Intron	88871169	1	no_errors	ENST00000301019	ensembl	human	known	70_37	splice_site	SNP	0.020	T	T	88871169	G	T	88871169	5	4	74	1	0	0	0	0	0	0	1	0	3185	1014	35	4	361	4	CDT1	16	88871169	Splice_Site	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	146051	88871169	1483584	819	11514										
SMG6	23293	genome.wustl.edu	37	chr17	2201296	2201296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatccacattctgattatcaGagaactcaatatctaataga	5	8	4	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:2201296G>C	ENST00000263073.6	-	3	1951	c.1901C>G	c.(1900-1902)tCt>tGt	p.S634C	SMG6_ENST00000544865.1_Missense_Mutation_p.S603C	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	634					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGATTATCAGAGAACTCAAT	0.408																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													85	82	83					17																	2201296		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1901C>G	17.37:g.2201296G>C	ENSP00000263073:p.Ser634Cys		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.S634C	ENST00000263073.6	37	c.1901	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013752	0.54468	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18174	2.23;2.23	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00832	-1.1548	10	0.28530	T	0.3	-5.0687	19.9022	0.96990	0.0:0.0:1.0:0.0	.	634	Q86US8	EST1A_HUMAN	C	634;603	ENSP00000263073:S634C;ENSP00000443920:S603C	ENSP00000263073:S634C	S	-	2	0	SMG6	2148046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.687000	0.91594	0.655000	0.94253	TCT	SMG6	-	NULL		0.408	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			2201296	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2201296	G	C	2201296	3	2	74	1	0	0	0	0	1	0	0	0	14827	942	33	1	2426	1	SMG6	17	2201296	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09		2201296	78993914	820	11515										
PAFAH1B1	5048	genome.wustl.edu	37	chr17	2585025	2585025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catttctttttctttcagatTtccacaagacggcaccctat	4	12	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:2585025T>G	ENST00000397195.5	+	11	1613	c.1162T>G	c.(1162-1164)Ttc>Gtc	p.F388V	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.F183V|RN7SL608P_ENST00000492377.2_RNA|RP11-74E22.5_ENST00000610120.1_RNA|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TCTTTCAGATTTCCACAAGAC	0.428																																																	0													111	94	100					17																	2585025		2203	4300	6503	SO:0001583	missense	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1162T>G	17.37:g.2585025T>G	ENSP00000380378:p.Phe388Val			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F388V	ENST00000397195.5	37	c.1162	CCDS32528.1	17	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221602	0.58560	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66638	-0.22;-0.22	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	L	0.33137	0.985	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.19666	0.016;0.026	T	0.56691	-0.7937	10	0.66056	D	0.02	.	15.6122	0.76733	0.0:0.0:0.0:1.0	.	183;388	B4DF38;P43034	.;LIS1_HUMAN	V	388;217;183	ENSP00000380378:F388V;ENSP00000395628:F183V	ENSP00000380377:F217V	F	+	1	0	PAFAH1B1	2531775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.277000	0.76020	0.528000	0.53228	TTC	PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.428	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	T	NM_000430		2585025	1	no_errors	ENST00000397195	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2585025	T	G	2585025	3	3	74	1	0	0	0	0	1	0	0	0	11408	1841	64	5	1200	5	PAFAH1B1	17	2585025	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	383729	2585025	78610185	821	11516										
OR3A1	4994	genome.wustl.edu	37	chr17	3195220	3195220	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgccacgtggatataggaGatgacaatgagagccatggg	15	7	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:3195220G>A	ENST00000323404.1	-	1	656	c.657C>T	c.(655-657)atC>atT	p.I219I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	219					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGATATAGGAGATGACAATGA	0.537																																					GBM(20;287 516 18743 28660 36594)												0													63	60	61					17																	3195220		2203	4300	6503	SO:0001819	synonymous_variant	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.657C>T	17.37:g.3195220G>A			Q4VB06|Q6IFM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I219	ENST00000323404.1	37	c.657	CCDS11023.1	17																																																																																			OR3A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	HGNC	protein_coding	OTTHUMT00000207302.2	G			3195220	-1	no_errors	ENST00000323404	ensembl	human	known	70_37	silent	SNP	0.072	A	A	3195220	G	A	3195220	2	1	74	1	0	0	0	0	0	0	0	1	11061	932	33	1		1	OR3A1	17	3195220	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	610195	3195220	77999990	822	11517										
GSG2	83903	genome.wustl.edu	37	chr17	3629039	3629039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accagctcttcattgtgctgGaatttgagtttggagggatt	12	6	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:3629039G>C	ENST00000325418.4	+	1	1829	c.1810G>C	c.(1810-1812)Gaa>Caa	p.E604Q	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CATTGTGCTGGAATTTGAGTT	0.473																																																	0													110	108	109					17																	3629039		2203	4300	6503	SO:0001583	missense	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1810G>C	17.37:g.3629039G>C	ENSP00000325290:p.Glu604Gln		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E604Q	ENST00000325418.4	37	c.1810	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943778	0.73672	.	.	ENSG00000177602	ENST00000325418	T	0.72394	-0.65	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.87920	0.6299	M	0.94101	3.495	0.53005	D	0.999964	D	0.76494	0.999	D	0.87578	0.998	D	0.90805	0.4697	10	0.87932	D	0	-22.0654	16.0321	0.80585	0.0:0.0:1.0:0.0	.	604	Q8TF76	HASP_HUMAN	Q	604	ENSP00000325290:E604Q	ENSP00000325290:E604Q	E	+	1	0	GSG2	3575788	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.208000	0.77907	2.648000	0.89879	0.655000	0.94253	GAA	GSG2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	G	NM_031965		3629039	1	no_errors	ENST00000325418	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3629039	G	C	3629039	3	2	74	1	0	0	0	0	1	0	0	0	6842	1175	41	1	1812	1	GSG2	17	3629039	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	433819	3629039	77566171	823	11518										
ZZEF1	23140	genome.wustl.edu	37	chr17	3919733	3919733	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtccccagcatgtcctctcGgcagccctggagcactttct	10	16	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:3919733G>T	ENST00000381638.2	-	49	8153	c.8029C>A	c.(8029-8031)Cga>Aga	p.R2677R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2677							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGTCCTCTCGGCAGCCCTGG	0.562																																																	0													94	73	80					17																	3919733		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8029C>A	17.37:g.3919733G>T			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.R2677	ENST00000381638.2	37	c.8029	CCDS11043.1	17																																																																																			ZZEF1	-	NULL		0.562	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3919733	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3919733	G	T	3919733	2	4	74	1	0	0	0	0	0	0	0	1	18285	1124	39	2		2	ZZEF1	17	3919733	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	290694	3919733	77275477	824	11519										
MINK1	50488	genome.wustl.edu	37	chr17	4794897	4794897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atccccgcacccactgccacGcccagtgcccgaggagctgt	10	19	0	0	rs374719714		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:4794897G>A	ENST00000355280.6	+	16	2083	c.1887G>A	c.(1885-1887)acG>acA	p.T629T	MINK1_ENST00000453408.3_Silent_p.T609T|MINK1_ENST00000347992.7_Silent_p.T629T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCACTGCCACGCCCAGTGCCC	0.677																																																	0								G	,,,	0,4048		0,0,2024	25	32	30		1827,1887,1887,1887	-7	0.9	17		30	1,8325		0,1,4162	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MINK1	NM_001024937.3,NM_015716.4,NM_153827.4,NM_170663.4	,,,	0,1,6186	AA,AG,GG		0.012,0.0,0.0081	,,,	609/1313,629/1296,629/1333,629/1304	4794897	1,12373	2024	4163	6187	SO:0001819	synonymous_variant	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1887G>A	17.37:g.4794897G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.T629	ENST00000355280.6	37	c.1887	CCDS45588.1	17																																																																																			MINK1	-	NULL		0.677	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	G	NM_015716		4794897	1	no_errors	ENST00000355280	ensembl	human	known	70_37	silent	SNP	0.358	A	A	4794897	G	A	4794897	2	1	74	1	0	0	0	0	0	0	0	1	9610	1074	38	2		2	MINK1	17	4794897	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	875164	4794897	76400313	825	11520										
SLC25A11	8402	genome.wustl.edu	37	chr17	4842251	4842251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtggtgtaggtggcctgacGcagcaggccagccgacagcc	16	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:4842251G>A	ENST00000225665.7	-	3	608	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|SLC25A11_ENST00000544061.2_Missense_Mutation_p.R39C	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	90					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GTGGCCTGACGCAGCAGGCCA	0.612																																					Esophageal Squamous(144;1178 2388 18010 48797)												0													53	54	54					17																	4842251		2203	4300	6503	SO:0001583	missense	8402			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.268C>T	17.37:g.4842251G>A	ENSP00000225665:p.Arg90Cys		F5GY65|O75537|Q969P7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R90C	ENST00000225665.7	37	c.268	CCDS11059.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424912	0.83667	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;T	0.81739	-1.53;-1.35	5.97	5.97	0.96955	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94725	0.7904	10	0.87932	D	0	-1.1849	17.9218	0.88969	0.0:0.0:1.0:0.0	.	90;90	Q6IBH0;Q02978	.;M2OM_HUMAN	C	90;39	ENSP00000225665:R90C;ENSP00000440804:R39C	ENSP00000225665:R90C	R	-	1	0	SLC25A11	4782996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.370000	0.66144	2.837000	0.97791	0.655000	0.94253	CGT	SLC25A11	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.612	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	HGNC	protein_coding	OTTHUMT00000216852.4	G	NM_003562		4842251	-1	no_errors	ENST00000225665	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4842251	G	A	4842251	3	1	74	1	0	0	0	0	1	0	0	0	14503	1087	38	2	700	2	SLC25A11	17	4842251	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	47354	4842251	76352959	826	11521										
DNAH2	146754	genome.wustl.edu	37	chr17	7682665	7682665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgtctgccctggctgccggCctcacccatttccattttga	8	16	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:7682665C>T	ENST00000572933.1	+	36	7106	c.5646C>T	c.(5644-5646)ggC>ggT	p.G1882G	DNAH2_ENST00000389173.2_Silent_p.G1882G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1882	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCTGCCGGCCTCACCCATT	0.532																																																	0													88	70	76					17																	7682665		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5646C>T	17.37:g.7682665C>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.G1882	ENST00000572933.1	37	c.5646	CCDS32551.1	17																																																																																			DNAH2	-	smart_AAA+_ATPase		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7682665	1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	0.004	T	T	7682665	C	T	7682665	2	4	74	1	0	0	0	0	0	0	0	1	4612	726	26	4		4	DNAH2	17	7682665	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2840414	7682665	73512545	827	11522										
DNAH2	146754	genome.wustl.edu	37	chr17	7721130	7721130	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggcactgatgatcgaccctCaggcccaggccctgaaatgg	13	13	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:7721130C>G	ENST00000572933.1	+	67	11652	c.10192C>G	c.(10192-10194)Cag>Gag	p.Q3398E	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q3398E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3398	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATCGACCCTCAGGCCCAGGC	0.652																																																	0													54	50	51					17																	7721130		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10192C>G	17.37:g.7721130C>G	ENSP00000458355:p.Gln3398Glu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.Q3398E	ENST00000572933.1	37	c.10192	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484317	0.84854	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.56275	0.47	5.09	5.09	0.68999	.	0.070538	0.64402	D	0.000015	D	0.82655	0.5084	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.88831	0.3305	10	0.87932	D	0	.	17.4323	0.87543	0.0:1.0:0.0:0.0	.	3359;3398	Q9P225-2;Q9P225	.;DYH2_HUMAN	E	3359;3398	ENSP00000373825:Q3398E	ENSP00000353818:Q3359E	Q	+	1	0	DNAH2	7661855	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.675000	0.74493	2.651000	0.90000	0.563000	0.77884	CAG	DNAH2	-	NULL		0.652	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7721130	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7721130	C	G	7721130	3	3	74	1	0	0	0	0	1	0	0	0	4612	827	29	1	10454	1	DNAH2	17	7721130	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	38465	7721130	73474080	828	11523										
CHD3	1107	genome.wustl.edu	37	chr17	7804021	7804021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagccaagacagagctcatcGttcgggtggagctaagcccc	12	13	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:7804021G>A	ENST00000330494.7	+	18	3100	c.2950G>A	c.(2950-2952)Gtt>Att	p.V984I	CHD3_ENST00000380358.4_Missense_Mutation_p.V1043I|CHD3_ENST00000358181.4_Missense_Mutation_p.V984I	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	984					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAGCTCATCGTTCGGGTGGA	0.517																																																	0													56	54	55					17																	7804021		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2950G>A	17.37:g.7804021G>A	ENSP00000332628:p.Val984Ile		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V984I	ENST00000330494.7	37	c.2950	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509228	0.64522	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75477	-0.94;-0.94;-0.94	4.73	4.73	0.59995	SNF2-related (1);	0.000000	0.39020	N	0.001493	T	0.80232	0.4585	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.79784	0.981;0.989;0.993	T	0.82820	-0.0268	10	0.87932	D	0	-17.3164	18.2447	0.89981	0.0:0.0:1.0:0.0	.	984;984;1043	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	I	1043;984;984	ENSP00000369716:V1043I;ENSP00000350907:V984I;ENSP00000332628:V984I	ENSP00000332628:V984I	V	+	1	0	CHD3	7744746	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.601000	0.98297	2.627000	0.88993	0.561000	0.74099	GTT	CHD3	-	pfam_SNF2_N		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7804021	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7804021	G	A	7804021	3	1	74	1	0	0	0	0	1	0	0	0	3331	1145	40	2	3301	2	CHD3	17	7804021	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	82891	7804021	73391189	829	11524										
ARHGEF15	22899	genome.wustl.edu	37	chr17	8222168	8222168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctctttgcctcgcgcccccGcttcacccctctttgcctgc	7	21	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:8222168G>A	ENST00000361926.3	+	12	2083	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R658H|ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	658					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCGCGCCCCCGCTTCACCCCT	0.647																																																	0													137	154	148					17																	8222168		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1973G>A	17.37:g.8222168G>A	ENSP00000355026:p.Arg658His		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.R658H	ENST00000361926.3	37	c.1973	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	g	19.76	3.887966	0.72410	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88431	-2.38;-2.38	4.84	4.84	0.62591	Pleckstrin homology-type (1);	0.189224	0.45606	D	0.000344	D	0.88440	0.6437	L	0.29908	0.895	0.41827	D	0.990056	D;D	0.76494	0.999;0.999	P;P	0.62885	0.908;0.908	D	0.87363	0.2345	10	0.45353	T	0.12	-18.8784	8.948	0.35771	0.099:0.0:0.901:0.0	.	658;658	D3DTR7;O94989	.;ARHGF_HUMAN	H	658;448;658	ENSP00000355026:R658H;ENSP00000412505:R658H	ENSP00000355026:R658H	R	+	2	0	ARHGEF15	8162893	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.008000	0.49544	2.517000	0.84864	0.561000	0.74099	CGC	ARHGEF15	-	NULL		0.647	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	G	NM_173728		8222168	1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8222168	G	A	8222168	3	1	74	1	0	0	0	0	1	0	0	0	898	1087	38	2	2015	2	ARHGEF15	17	8222168	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	418147	8222168	72973042	830	11525										
MYH2	4620	genome.wustl.edu	37	chr17	10432905	10432905	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccacttgttgttcaagtttGattttagctttggtcagggt	10	6	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:10432905G>C	ENST00000245503.5	-	24	3477	c.3093C>G	c.(3091-3093)atC>atG	p.I1031M	MYH2_ENST00000397183.2_Missense_Mutation_p.I1031M|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1031					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTCAAGTTTGATTTTAGCTT	0.438																																																	0													223	209	214					17																	10432905		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3093C>G	17.37:g.10432905G>C	ENSP00000245503:p.Ile1031Met		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1031M	ENST00000245503.5	37	c.3093	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	9.734	1.162943	0.21538	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.87729	-2.29;-2.29	5.24	5.24	0.73138	.	0.621973	0.12836	U	0.435184	D	0.84800	0.5552	L	0.38175	1.15	0.29231	N	0.873266	B	0.12630	0.006	B	0.23018	0.043	T	0.78001	-0.2375	10	0.62326	D	0.03	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1031	Q9UKX2	MYH2_HUMAN	M	1031	ENSP00000245503:I1031M;ENSP00000380367:I1031M	ENSP00000245503:I1031M	I	-	3	3	MYH2	10373630	0.709000	0.27886	0.998000	0.56505	0.405000	0.30901	0.825000	0.27393	2.718000	0.92993	0.591000	0.81541	ATC	MYH2	-	superfamily_Prefoldin		0.438	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10432905	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10432905	G	C	10432905	3	2	74	1	0	0	0	0	1	0	0	0	10058	1280	45	1	2800	1	MYH2	17	10432905	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2210737	10432905	70762305	831	11526										
SCO1	6341	genome.wustl.edu	37	chr17	10590073	10590073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcatcttcgtccttggggcCagggctgtaatacactctgt	10	11	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:10590073C>A	ENST00000255390.5	-	5	802	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	SCO1_ENST00000577427.1_Missense_Mutation_p.G217C|CTC-297N7.10_ENST00000584139.1_RNA	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	248					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCCTTGGGGCCAGGGCTGTAA	0.443																																					Melanoma(128;591 1731 19711 31891 44645)												0													167	160	162					17																	10590073		2203	4300	6503	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.742G>T	17.37:g.10590073C>A	ENSP00000255390:p.Gly248Cys		B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.G248C	ENST00000255390.5	37	c.742	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768489	0.90020	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.88818	-2.43	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95624	0.8683	10	0.54805	T	0.06	-14.8192	20.2371	0.98361	0.0:1.0:0.0:0.0	.	217;248	A8MY34;O75880	.;SCO1_HUMAN	C	248;217	ENSP00000255390:G248C	ENSP00000255390:G248C	G	-	1	0	SCO1	10530798	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.441000	0.80485	2.788000	0.95919	0.555000	0.69702	GGC	SCO1	-	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.443	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	HGNC	protein_coding	OTTHUMT00000252729.2	C	NM_004589		10590073	-1	no_errors	ENST00000255390	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10590073	C	A	10590073	3	1	74	1	0	0	0	0	1	0	0	0	13961	594	21	4	171	4	SCO1	17	10590073	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	157168	10590073	70605137	832	11527										
DNAH9	1770	genome.wustl.edu	37	chr17	11535955	11535955	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaaagtagaagatcttgacCgaagattggggactatcttt	11	5	2	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:11535955C>T	ENST00000262442.4	+	8	1638	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R524*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	524	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATCTTGACCGAAGATTGGG	0.413																																																	0													113	112	112					17																	11535955		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1570C>T	17.37:g.11535955C>T	ENSP00000262442:p.Arg524*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R524*	ENST00000262442.4	37	c.1570	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.686774	0.96784	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.18	4.2	0.49525	.	2.131660	0.02014	N	0.047240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3444	0.55111	0.1693:0.8307:0.0:0.0	.	.	.	.	X	524	.	ENSP00000262442:R524X	R	+	1	2	DNAH9	11476680	0.997000	0.39634	0.994000	0.49952	0.240000	0.25518	0.836000	0.27545	1.174000	0.42811	0.650000	0.86243	CGA	DNAH9	-	pfam_Dynein_heavy_dom-1		0.413	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11535955	1	no_errors	ENST00000262442	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	11535955	C	T	11535955	4	4	74	1	0	0	0	0	0	1	0	0	4618	644	23	2	1600	2	DNAH9	17	11535955	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	945882	11535955	69659255	833	11528										
TTC19	54902	genome.wustl.edu	37	chr17	15903112	15903112	+	5'UTR	DEL	G	G	-													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agggcgctcggcgcgtggtcGggggccaggagcgcgtctgg							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:15903112delG	ENST00000261647.5	+	0	419				TTC19_ENST00000486880.2_Frame_Shift_Del_p.G106fs|ZSWIM7_ENST00000486655.1_5'Flank|ZSWIM7_ENST00000399277.1_5'Flank|ZSWIM7_ENST00000399280.2_5'Flank|ZSWIM7_ENST00000472495.1_5'Flank	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19						cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCGCGTGGTCGGGGGCCAGGA	0.741																																																	0													3	4	4					17																	15903112		1804	3653	5457	SO:0001623	5_prime_UTR_variant	54902			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"Tetratricopeptide (TTC) repeat domain containing"	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.-51G>-	17.37:g.15903112delG			A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Frame_Shift_Del	DEL	smart_TPR_repeat,pfscan_TPR-contain_dom	p.G106fs	ENST00000261647.5	37	c.313	CCDS11174.2	17																																																																																			TTC19	-	NULL		0.741	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	HGNC	protein_coding	OTTHUMT00000131725.6	G	NM_017775		15903112	1	no_errors	ENST00000261647	ensembl	human	novel	70_37	frame_shift_del	DEL	0.876	-	-	15903112	G	-	15903112	6	5	74	0	1	1	0	1	0	0	0	0	16717	1116	39	0		0	TTC19	17	15903112	5'UTR	DEL	G	TCGA-EA-A3HU-01A-11D-A20U-09	4367157	15903112	65292098	834	11529										
NCOR1	9611	genome.wustl.edu	37	chr17	15976879	15976879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcccttctcgggcattcttAatatctacagaatacacaaa	5	11	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:15976879A>C	ENST00000268712.3	-	28	3932	c.3675T>G	c.(3673-3675)atT>atG	p.I1225M	NCOR1_ENST00000395851.1_Missense_Mutation_p.I1241M|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1225	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGCATTCTTAATATCTACAG	0.358																																																	0													81	72	75					17																	15976879		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3675T>G	17.37:g.15976879A>C	ENSP00000268712:p.Ile1225Met		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I1225M	ENST00000268712.3	37	c.3675	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576001	0.28092	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82711	-1.64;-1.64	5.91	2.39	0.29439	.	0.000000	0.85682	D	0.000000	D	0.82829	0.5122	L	0.32530	0.975	0.80722	D	1	D;D;B;B	0.76494	0.999;0.998;0.264;0.383	D;D;B;B	0.83275	0.996;0.991;0.03;0.066	T	0.79453	-0.1797	10	0.51188	T	0.08	-11.2866	5.191	0.15209	0.6439:0.1404:0.2156:0.0	.	36;1132;1225;1241	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	M	1225;1241;1132	ENSP00000268712:I1225M;ENSP00000379192:I1241M	ENSP00000268712:I1225M	I	-	3	3	NCOR1	15917604	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.031000	0.30165	0.504000	0.28082	0.533000	0.62120	ATT	NCOR1	-	NULL		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	A	NM_006311		15976879	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15976879	A	C	15976879	3	2	74	1	0	0	0	0	1	0	0	0	10259	358	13	5	3723	5	NCOR1	17	15976879	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	73767	15976879	65218331	835	11530										
TNFRSF13B	23495	genome.wustl.edu	37	chr17	16843020	16843020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcgtgactgcgctctcctgCgtgggcgccctgcactcagg	15	15	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:16843020C>T	ENST00000261652.2	-	5	735	c.723G>A	c.(721-723)acG>acA	p.T241T	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Silent_p.T195T|TNFRSF13B_ENST00000583789.1_Silent_p.T195T|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	241					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGCTCTCCTGCGTGGGCGCCC	0.667									IgA Deficiency, Selective																																								0													33	32	32					17																	16843020		2203	4300	6503	SO:0001819	synonymous_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.723G>A	17.37:g.16843020C>T			B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.T241	ENST00000261652.2	37	c.723	CCDS11181.1	17																																																																																			TNFRSF13B	-	NULL		0.667	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	C			16843020	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	silent	SNP	0.998	T	T	16843020	C	T	16843020	2	4	74	1	0	0	0	0	0	0	0	1	16317	755	27	2		2	TNFRSF13B	17	16843020	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	866141	16843020	64352190	836	11531										
TNFRSF13B	23495	genome.wustl.edu	37	chr17	16852098	16852098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccaatccttggtaccttccCgagttgtctgaattgttttc	7	11	1	1	rs371292644		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:16852098C>T	ENST00000261652.2	-	3	411	c.399G>A	c.(397-399)tcG>tcA	p.S133S	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000437538.2_Silent_p.S87S|TNFRSF13B_ENST00000583789.1_Silent_p.S87S|TNFRSF13B_ENST00000579315.1_Silent_p.S133S	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	133					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGTACCTTCCCGAGTTGTCTG	0.537									IgA Deficiency, Selective																																								0								C		1,4405	2.1+/-5.4	0,1,2202	202	174	184		399	-7	0	17		184	0,8600		0,0,4300	no	coding-synonymous	TNFRSF13B	NM_012452.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		133/294	16852098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.399G>A	17.37:g.16852098C>T			B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.S133	ENST00000261652.2	37	c.399	CCDS11181.1	17																																																																																			TNFRSF13B	-	NULL		0.537	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	C			16852098	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	silent	SNP	0.000	T	T	16852098	C	T	16852098	2	4	74	1	0	0	0	0	0	0	0	1	16317	639	23	2		2	TNFRSF13B	17	16852098	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	9078	16852098	64343112	837	11532										
COPS3	8533	genome.wustl.edu	37	chr17	17163731	17163731	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attcaccaggtttcggagttCtgaggggttgttggttgaat	14	5	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:17163731C>T	ENST00000268717.5	-	8	926	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	COPS3_ENST00000439936.2_Intron|COPS3_ENST00000539941.2_Missense_Mutation_p.E254K	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	274	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTCGGAGTTCTGAGGGGTTG	0.413																																																	0													223	186	199					17																	17163731		2203	4300	6503	SO:0001583	missense	8533			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3", "COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.820G>A	17.37:g.17163731C>T	ENSP00000268717:p.Glu274Lys		B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E274K	ENST00000268717.5	37	c.820	CCDS11183.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.502485	0.96371	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352	T;T	0.30981	1.51;1.51	5.47	5.47	0.80525	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.49350	1.555	0.80722	D	1	B	0.33022	0.394	B	0.42138	0.377	T	0.06338	-1.0832	10	0.09084	T	0.74	-26.2809	18.3076	0.90188	0.0:1.0:0.0:0.0	.	274	Q9UNS2	CSN3_HUMAN	K	274;254;305	ENSP00000268717:E274K;ENSP00000437606:E254K	ENSP00000268717:E274K	E	-	1	0	COPS3	17104456	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.481000	0.81124	2.564000	0.86499	0.655000	0.94253	GAA	COPS3	-	pfam_PCI_dom		0.413	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS3	HGNC	protein_coding	OTTHUMT00000131603.2	C			17163731	-1	no_errors	ENST00000268717	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17163731	C	T	17163731	3	4	74	1	0	0	0	0	1	0	0	0	3739	922	32	1	471	1	COPS3	17	17163731	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	311633	17163731	64031479	838	11533										
MYO15A	51168	genome.wustl.edu	37	chr17	18045527	18045527	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttccgctctctgcgccacaaGatcatcctgctgcaaagccg	8	16	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:18045527G>C	ENST00000205890.5	+	24	6122	c.5784G>C	c.(5782-5784)aaG>aaC	p.K1928N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1928	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCGCCACAAGATCATCCTGC	0.587																																																	0													35	38	37					17																	18045527		2153	4271	6424	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5784G>C	17.37:g.18045527G>C	ENSP00000205890:p.Lys1928Asn		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.K1928N	ENST00000205890.5	37	c.5784	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490683	0.64074	.	.	ENSG00000091536	ENST00000205890	T	0.25579	1.79	5.69	4.72	0.59763	.	.	.	.	.	T	0.43523	0.1251	L	0.53729	1.69	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.20706	-1.0267	9	0.36615	T	0.2	.	12.6137	0.56565	0.1383:0.0:0.8617:0.0	.	1928	Q9UKN7	MYO15_HUMAN	N	1928	ENSP00000205890:K1928N	ENSP00000205890:K1928N	K	+	3	2	MYO15A	17986252	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	4.640000	0.61368	1.420000	0.47138	-0.136000	0.14681	AAG	MYO15A	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18045527	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18045527	G	C	18045527	3	2	74	1	0	0	0	0	1	0	0	0	10086	933	33	1	5870	1	MYO15A	17	18045527	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	881796	18045527	63149683	839	11534										
TOP3A	7156	genome.wustl.edu	37	chr17	18194243	18194243	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccacaaagcgttcctgagcGatgtcgatctccactgtggt	11	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:18194243G>A	ENST00000321105.5	-	12	1594	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I365I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	460					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTTCCTGAGCGATGTCGATCT	0.512																																																	0													131	123	126					17																	18194243		2203	4300	6503	SO:0001819	synonymous_variant	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1380C>T	17.37:g.18194243G>A			A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.I460	ENST00000321105.5	37	c.1380	CCDS11194.1	17																																																																																			TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd		0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	G			18194243	-1	no_errors	ENST00000321105	ensembl	human	known	70_37	silent	SNP	0.820	A	A	18194243	G	A	18194243	2	1	74	1	0	0	0	0	0	0	0	1	16398	1048	37	1		1	TOP3A	17	18194243	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	148716	18194243	63000967	840	11535										
KIAA0100	9703	genome.wustl.edu	37	chr17	26943196	26943196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagctcgctctttcatcttgTcaatgtcatccacagggtgc	8	13	5	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:26943196T>C	ENST00000528896.2	-	37	6382	c.6308A>G	c.(6307-6309)gAc>gGc	p.D2103G	KIAA0100_ENST00000579924.2_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1960G|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1960G|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2103						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTTCATCTTGTCAATGTCATC	0.473																																																	0													74	60	65					17																	26943196		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6308A>G	17.37:g.26943196T>C	ENSP00000436773:p.Asp2103Gly		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.D2103G	ENST00000528896.2	37	c.6308	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982664	0.74474	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.9	5.9	0.94986	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63189	-0.6693	10	0.51188	T	0.08	.	16.3283	0.82996	0.0:0.0:0.0:1.0	.	2103	Q14667	K0100_HUMAN	G	2103;2073;2103;1960	ENSP00000436773:D2103G;ENSP00000446443:D1960G	ENSP00000005905:D2103G	D	-	2	0	KIAA0100	23967323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.658000	0.83755	2.257000	0.74773	0.533000	0.62120	GAC	KIAA0100	-	pfam_FMP27_C		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	T	NM_014680		26943196	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26943196	T	C	26943196	3	2	74	1	0	0	0	0	1	0	0	0	8174	1667	58	5	411	5	KIAA0100	17	26943196	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	8748953	26943196	54252014	841	11536										
ANKRD13B	124930	genome.wustl.edu	37	chr17	27940575	27940575	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaggagctggagcgcatccTgaggctctcactgaccgagc	15	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:27940575T>A	ENST00000394859.3	+	15	2010	c.1856T>A	c.(1855-1857)cTg>cAg	p.L619Q	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'Flank	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	619						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GAGCGCATCCTGAGGCTCTCA	0.731																																																	0													8	13	11					17																	27940575		1832	3637	5469	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1856T>A	17.37:g.27940575T>A	ENSP00000378328:p.Leu619Gln		Q8N7S9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.L619Q	ENST00000394859.3	37	c.1856	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037583	0.75617	.	.	ENSG00000198720	ENST00000394859	T	0.71103	-0.54	5.0	5.0	0.66597	.	0.250454	0.31531	N	0.007500	T	0.75932	0.3917	M	0.75884	2.315	0.58432	D	0.999995	P	0.45348	0.856	P	0.46758	0.526	T	0.80540	-0.1337	10	0.87932	D	0	-2.7011	14.8701	0.70450	0.0:0.0:0.0:1.0	.	619	Q86YJ7	AN13B_HUMAN	Q	619	ENSP00000378328:L619Q	ENSP00000378328:L619Q	L	+	2	0	ANKRD13B	24964701	1.000000	0.71417	0.955000	0.39395	0.790000	0.44656	5.733000	0.68571	2.106000	0.64143	0.460000	0.39030	CTG	ANKRD13B	-	NULL		0.731	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	T	NM_152345		27940575	1	no_errors	ENST00000394859	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27940575	T	A	27940575	3	1	74	1	0	0	0	0	1	0	0	0	642	1580	55	5	1914	5	ANKRD13B	17	27940575	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	997379	27940575	53254635	842	11537										
CORO6	84940	genome.wustl.edu	37	chr17	27946167	27946167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caagtgtgatgataggttccGtaatgttgcgcatgggggta	15	5	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:27946167G>A	ENST00000445145.2	-	3	363	c.362C>T	c.(361-363)aCg>aTg	p.T121M	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.T121M|CORO6_ENST00000580212.1_Missense_Mutation_p.T121M|CORO6_ENST00000584969.1_Missense_Mutation_p.T121M|CORO6_ENST00000345068.5_Missense_Mutation_p.T121M			Q6QEF8	CORO6_HUMAN	coronin 6	121					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GATAGGTTCCGTAATGTTGCG	0.567																																																	0													50	55	54					17																	27946167		2068	4231	6299	SO:0001583	missense	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.362C>T	17.37:g.27946167G>A	ENSP00000393624:p.Thr121Met		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T121M	ENST00000445145.2	37	c.362		17	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352658	0.41700	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T;T	0.68181	-0.31;5.02;5.02	5.69	5.69	0.88448	.	0.531571	0.19982	N	0.101756	T	0.81749	0.4888	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	P	0.61397	0.888	T	0.83295	-0.0031	10	0.87932	D	0	0.0921	19.4156	0.94697	0.0:0.0:1.0:0.0	.	121	Q6QEF8-5	.	M	192;121;121	ENSP00000344562:T192M;ENSP00000373419:T121M;ENSP00000393624:T121M	ENSP00000344562:T192M	T	-	2	0	CORO6	24970293	1.000000	0.71417	0.865000	0.33974	0.973000	0.67179	7.627000	0.83176	2.688000	0.91661	0.561000	0.74099	ACG	CORO6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.567	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	G	NM_032854		27946167	-1	no_errors	ENST00000345068	ensembl	human	known	70_37	missense	SNP	0.998	A	A	27946167	G	A	27946167	3	1	74	1	0	0	0	0	1	0	0	0	3763	1145	40	2	1088	2	CORO6	17	27946167	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	5592	27946167	53249043	843	11538										
RHOT1	55288	genome.wustl.edu	37	chr17	30520179	30520179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttgtttcaacactccattaGctcctcaagctctggaggat	7	11	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:30520179G>A	ENST00000333942.6	+	10	903	c.664G>A	c.(664-666)Gct>Act	p.A222T	RHOT1_ENST00000354266.3_Missense_Mutation_p.A201T|RHOT1_ENST00000545287.2_Missense_Mutation_p.A222T|RHOT1_ENST00000394692.2_Missense_Mutation_p.A222T|RHOT1_ENST00000583994.1_Missense_Mutation_p.A95T|RHOT1_ENST00000358365.3_Missense_Mutation_p.A222T|RHOT1_ENST00000581094.1_Missense_Mutation_p.A222T|RHOT1_ENST00000580976.1_3'UTR	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	222					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CACTCCATTAGCTCCTCAAGC	0.348																																																	0													93	88	90					17																	30520179		2203	4300	6503	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.664G>A	17.37:g.30520179G>A	ENSP00000334724:p.Ala222Thr		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A222T	ENST00000333942.6	37	c.664	CCDS32612.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.653609|3.653609	0.67472|0.67472	.|.	.|.	ENSG00000126858|ENSG00000126858	ENST00000545287|ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	.|T;T;T	.|0.42131	.|0.98;0.98;0.98	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF hand associated, type-2 (1);EF-hand-like domain (1);	.|0.204155	.|0.51477	.|D	.|0.000098	.|T	.|0.53142	.|0.1778	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	.|D;B;B;B	.|0.61697	.|0.99;0.119;0.2;0.167	.|P;B;B;B	.|0.61533	.|0.89;0.062;0.089;0.053	.|T	.|0.34279	.|-0.9835	.|10	.|0.19590	.|T	.|0.45	.|-13.5678	19.5908|19.5908	0.95509|0.95509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222;222;222;222	.|Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.|.;MIRO1_HUMAN;.;.	.|T	-1|222	.|ENSP00000351132:A222T;ENSP00000378184:A222T;ENSP00000334724:A222T	.|ENSP00000334724:A222T	.|A	+|+	.|1	.|0	RHOT1|RHOT1	27544292|27544292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.881000|7.881000	0.87252|0.87252	2.627000|2.627000	0.88993|0.88993	0.467000|0.467000	0.42956|0.42956	.|GCT	RHOT1	-	pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro		0.348	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	G	NM_018307		30520179	1	no_errors	ENST00000358365	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30520179	G	A	30520179	3	1	74	1	0	0	0	0	1	0	0	0	13373	971	34	4	702	4	RHOT1	17	30520179	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2574012	30520179	50675031	844	11539										
MYO1D	4642	genome.wustl.edu	37	chr17	31048090	31048090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaggcaaatcctgcccgacGcactctcacattttccagta	7	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:31048090G>A	ENST00000318217.5	-	15	2168	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	MYO1D_ENST00000579584.1_Missense_Mutation_p.R622C|MYO1D_ENST00000394649.4_Missense_Mutation_p.R534C	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	622	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R622C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTGCCCGACGCACTCTCACA	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											151	151	151					17																	31048090		2203	4300	6503	SO:0001583	missense	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1864C>T	17.37:g.31048090G>A	ENSP00000324527:p.Arg622Cys		A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R622C	ENST00000318217.5	37	c.1864	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.260918	0.95368	.	.	ENSG00000176658	ENST00000318217	T	0.73469	-0.75	5.21	5.21	0.72293	Myosin head, motor domain (2);	0.000000	0.36703	U	0.002460	D	0.85362	0.5679	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86569	0.1846	10	0.87932	D	0	.	16.289	0.82738	0.0:0.0:1.0:0.0	.	533;622	Q7Z3N6;O94832	.;MYO1D_HUMAN	C	622	ENSP00000324527:R622C	ENSP00000324527:R622C	R	-	1	0	MYO1D	28072203	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.331000	0.72929	2.716000	0.92895	0.561000	0.74099	CGT	MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.468	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	G			31048090	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31048090	G	A	31048090	3	1	74	1	0	0	0	0	1	0	0	0	10094	1087	38	2	1188	2	MYO1D	17	31048090	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	527911	31048090	50147120	845	11540										
AP2B1	163	genome.wustl.edu	37	chr17	33954732	33954732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgggccattggacggtgtgCcatcaaggtggaggcaagtg	18	8	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:33954732C>T	ENST00000262325.7	+	9	1695	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.A381V|AP2B1_ENST00000592545.1_Missense_Mutation_p.A343V|AP2B1_ENST00000538556.1_Missense_Mutation_p.A324V|AP2B1_ENST00000589344.1_Missense_Mutation_p.A381V|AP2B1_ENST00000537622.2_Missense_Mutation_p.A381V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	381					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGACGGTGTGCCATCAAGGTG	0.413																																																	0													109	101	104					17																	33954732		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1142C>T	17.37:g.33954732C>T	ENSP00000262325:p.Ala381Val		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.A381V	ENST00000262325.7	37	c.1142	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033287	0.93575	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.74	5.74	0.90152	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	H	0.94698	3.57	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.91635	0.978;0.987;0.999;0.914	T	0.80197	-0.1482	10	0.87932	D	0	-11.0005	18.9119	0.92489	0.0:1.0:0.0:0.0	.	118;343;381;381	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	V	381;381;324;381;118	ENSP00000262325:A381V;ENSP00000314414:A381V;ENSP00000440563:A324V;ENSP00000437413:A381V	ENSP00000262325:A381V	A	+	2	0	AP2B1	30978845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.712000	0.92718	0.650000	0.86243	GCC	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.413	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	C			33954732	1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33954732	C	T	33954732	3	4	74	1	0	0	0	0	1	0	0	0	741	739	26	4	1172	4	AP2B1	17	33954732	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2906642	33954732	47240478	846	11541										
MYO19	80179	genome.wustl.edu	37	chr17	34870339	34870339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaagcctggcaggccactcGagttttctctaggaggtagg	15	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:34870339G>C	ENST00000431794.3	-	9	1192	c.670C>G	c.(670-672)Cga>Gga	p.R224G	MYO19_ENST00000544606.1_Missense_Mutation_p.R90G|MYO19_ENST00000268852.9_Missense_Mutation_p.R224G|MYO19_ENST00000586007.1_Missense_Mutation_p.R224G	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	224	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGCCACTCGAGTTTTCTCT	0.562																																																	0													111	113	113					17																	34870339		1892	4106	5998	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.670C>G	17.37:g.34870339G>C	ENSP00000409936:p.Arg224Gly		Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R224G	ENST00000431794.3	37	c.670	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000574	0.74818	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.96885	-4.16;-4.16;-4.16	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.36444	N	0.002589	D	0.98902	0.9628	H	0.98466	4.24	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99167	1.0863	10	0.87932	D	0	.	14.2154	0.65790	0.0:0.0:0.8501:0.1499	.	90;224;224;224	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	G	224;224;90	ENSP00000409936:R224G;ENSP00000268852:R224G;ENSP00000438365:R90G	ENSP00000268852:R224G	R	-	1	2	MYO19	31944452	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	3.502000	0.53332	2.709000	0.92574	0.655000	0.94253	CGA	MYO19	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.562	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	G	NM_025109		34870339	-1	no_errors	ENST00000431794	ensembl	human	known	70_37	missense	SNP	0.887	C	C	34870339	G	C	34870339	3	2	74	1	0	0	0	0	1	0	0	0	10090	1066	37	1	2374	1	MYO19	17	34870339	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	915607	34870339	46324871	847	11542										
SYNRG	11276	genome.wustl.edu	37	chr17	35879070	35879070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtcaggcaggacgaggccAggaggctttggttcgacaca	16	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:35879070A>G	ENST00000339208.6	-	22	4058	c.3918T>C	c.(3916-3918)ccT>ccC	p.P1306P	SYNRG_ENST00000345615.4_Silent_p.P1216P|SYNRG_ENST00000591288.1_Silent_p.P1100P|SYNRG_ENST00000585472.1_Silent_p.P1227P|SYNRG_ENST00000502449.2_Silent_p.P1171P|SYNRG_ENST00000394378.2_Silent_p.P1251P|SYNRG_ENST00000346661.4_Silent_p.P1294P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1306					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACGAGGCCAGGAGGCTTTG	0.507																																																	0													196	189	192					17																	35879070		2203	4300	6503	SO:0001819	synonymous_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3918T>C	17.37:g.35879070A>G			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.P1306	ENST00000339208.6	37	c.3918	CCDS11321.1	17																																																																																			SYNRG	-	NULL		0.507	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	A	NM_007247		35879070	-1	no_errors	ENST00000339208	ensembl	human	known	70_37	silent	SNP	0.966	G	G	35879070	A	G	35879070	2	3	74	1	0	0	0	0	0	0	0	1	15490	175	7	5		5	SYNRG	17	35879070	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1008731	35879070	45316140	848	11543										
CWC25	54883	genome.wustl.edu	37	chr17	36962572	36962572	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgtatccgggagcatgtcGcctttggtagacctcttttt	12	9	1	1	rs201865422		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:36962572G>A	ENST00000225428.5	-	8	1276	c.979C>T	c.(979-981)Cga>Tga	p.R327*	CWC25_ENST00000536127.1_Nonsense_Mutation_p.R264*	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	327										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGAGCATGTCGCCTTTGGTAG	0.498																																																	0													202	185	191					17																	36962572		1888	4106	5994	SO:0001587	stop_gained	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.979C>T	17.37:g.36962572G>A	ENSP00000225428:p.Arg327*		A0JLM3|Q68DK5	Nonsense_Mutation	SNP	pfam_CWC25,pfam_CIR_N_dom	p.R327*	ENST00000225428.5	37	c.979	CCDS45663.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.276913	0.95459	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.69	4.68	0.58851	.	0.398538	0.27664	N	0.018377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.0991	0.53772	0.0:0.0:0.8295:0.1705	.	.	.	.	X	327;264	.	ENSP00000225428:R327X	R	-	1	2	CWC25	34216098	1.000000	0.71417	0.998000	0.56505	0.242000	0.25591	1.818000	0.39012	2.696000	0.92011	0.655000	0.94253	CGA	CWC25	-	NULL		0.498	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	G	NM_017748		36962572	-1	no_errors	ENST00000225428	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	36962572	G	A	36962572	4	1	74	1	0	0	0	0	0	1	0	0	4074	1095	38	2	310	2	CWC25	17	36962572	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1083502	36962572	44232638	849	11544										
KRT31	3881	genome.wustl.edu	37	chr17	39553570	39553570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgtcccgctccagctgacgCactttctccaggtagctggc	10	15	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:39553570C>T	ENST00000251645.2	-	1	274	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	74	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCAGCTGACGCACTTTCTCCA	0.582																																																	0													86	84	85					17																	39553570		2203	4299	6502	SO:0001819	synonymous_variant	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.222G>A	17.37:g.39553570C>T			Q9UE12	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.V74	ENST00000251645.2	37	c.222	CCDS11391.1	17																																																																																			KRT31	-	pfam_F		0.582	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	C	NM_002277		39553570	-1	no_errors	ENST00000251645	ensembl	human	known	70_37	silent	SNP	0.998	T	T	39553570	C	T	39553570	2	4	74	1	0	0	0	0	0	0	0	1	8487	697	25	4		4	KRT31	17	39553570	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2590998	39553570	41641640	850	11545										
KAT2A	2648	genome.wustl.edu	37	chr17	40269601	40269601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catcccgggccgcattggccGaaagcaggctcgtctgggca	14	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40269601G>A	ENST00000225916.5	-	10	1495	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	481					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGCATTGGCCGAAAGCAGGCT	0.672																																																	0													17	18	18					17																	40269601		2198	4282	6480	SO:0001583	missense	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1442C>T	17.37:g.40269601G>A	ENSP00000225916:p.Ser481Leu		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.S481L	ENST00000225916.5	37	c.1442	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110392	0.56398	.	.	ENSG00000108773	ENST00000225916	T	0.05649	3.41	4.7	3.72	0.42706	.	0.138721	0.50627	N	0.000103	T	0.11580	0.0282	M	0.78049	2.395	0.54753	D	0.999986	P	0.47350	0.894	B	0.41946	0.371	T	0.04551	-1.0943	10	0.51188	T	0.08	-9.2492	12.7755	0.57445	0.0802:0.0:0.9198:0.0	.	481	Q92830	KAT2A_HUMAN	L	481	ENSP00000225916:S481L	ENSP00000225916:S481L	S	-	2	0	KAT2A	37523127	1.000000	0.71417	0.891000	0.34965	0.506000	0.33950	9.869000	0.99810	0.974000	0.38366	0.561000	0.74099	TCG	KAT2A	-	pirsf_Hist_acetylase_PCAF		0.672	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	G	NM_021078		40269601	-1	no_errors	ENST00000225916	ensembl	human	known	70_37	missense	SNP	0.998	A	A	40269601	G	A	40269601	3	1	74	1	0	0	0	0	1	0	0	0	8001	1059	37	1	1107	1	KAT2A	17	40269601	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	716031	40269601	40925609	851	11546										
GHDC	84514	genome.wustl.edu	37	chr17	40342753	40342753	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcaccaatatcttcccctcGcacactcagggtctggtcca	6	16	4	0	rs374649329		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40342753G>A	ENST00000301671.8	-	7	1618	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	GHDC_ENST00000428494.2_Nonsense_Mutation_p.R354*|GHDC_ENST00000414034.3_Nonsense_Mutation_p.R393*|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000436923.2_Nonsense_Mutation_p.R393*|GHDC_ENST00000587427.1_Nonsense_Mutation_p.R393*|GHDC_ENST00000593209.1_Nonsense_Mutation_p.R393*			Q8N2G8	GHDC_HUMAN	GH3 domain containing	393						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCTTCCCCTCGCACACTCAGG	0.647																																																	0													69	70	70					17																	40342753		2203	4300	6503	SO:0001587	stop_gained	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1177C>T	17.37:g.40342753G>A	ENSP00000301671:p.Arg393*		B4DQS4|E9PDB5|Q9BXM6	Nonsense_Mutation	SNP	pfam_GH3	p.R393*	ENST00000301671.8	37	c.1177	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034451	0.93575	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.18	2.15	0.27550	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.9572	4.905	0.13793	0.0851:0.1469:0.6165:0.1515	.	.	.	.	X	337;354;393;393;393	.	ENSP00000301671:R393X	R	-	1	2	GHDC	37596279	0.978000	0.34361	0.838000	0.33150	0.506000	0.33950	2.458000	0.45014	0.391000	0.25143	0.561000	0.74099	CGA	GHDC	-	pfam_GH3		0.647	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	G	NM_032484		40342753	-1	no_errors	ENST00000301671	ensembl	human	known	70_37	nonsense	SNP	0.988	A	A	40342753	G	A	40342753	4	1	74	1	0	0	0	0	0	1	0	0	6388	1095	38	2	516	2	GHDC	17	40342753	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	73152	40342753	40852457	852	11547										
TUBG1	7283	genome.wustl.edu	37	chr17	40766958	40766958	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acatgttcaaggacaactttGatgagatggacacatccagg	10	8	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40766958G>C	ENST00000251413.3	+	11	1317	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	419					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GGACAACTTTGATGAGATGGA	0.562																																					Colon(20;114 698 11420 22864)												0													133	131	132					17																	40766958		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1255G>C	17.37:g.40766958G>C	ENSP00000251413:p.Asp419His		Q53X79|Q9BW59	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.D419H	ENST00000251413.3	37	c.1255	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899624	0.52227	.	.	ENSG00000131462	ENST00000251413	D	0.84873	-1.91	5.02	3.98	0.46160	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.89785	3.06	0.58432	D	0.999999	P	0.36330	0.548	B	0.34824	0.19	D	0.90115	0.4195	10	0.66056	D	0.02	-12.6072	14.8514	0.70300	0.0:0.1441:0.8559:0.0	.	419	P23258	TBG1_HUMAN	H	419	ENSP00000251413:D419H	ENSP00000251413:D419H	D	+	1	0	TUBG1	38020484	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	6.531000	0.73820	2.339000	0.79563	0.563000	0.77884	GAT	TUBG1	-	superfamily_Tub_FtsZ_C		0.562	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	G	NM_001070		40766958	1	no_errors	ENST00000251413	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40766958	G	C	40766958	3	2	74	1	0	0	0	0	1	0	0	0	16795	1290	45	1	1297	1	TUBG1	17	40766958	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	424205	40766958	40428252	853	11548										
AOC3	8639	genome.wustl.edu	37	chr17	41008322	41008322	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgggtgacagctggttttCtgcatatcccacatgcagag	11	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:41008322C>G	ENST00000308423.2	+	4	2207	c.2047C>G	c.(2047-2049)Ctg>Gtg	p.L683V	AOC3_ENST00000591562.1_Missense_Mutation_p.L140V	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	683					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGCTGGTTTTCTGCATATCCC	0.542																																					NSCLC(3;192 220 10664 11501 16477)												0													144	140	142					17																	41008322		2203	4300	6503	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2047C>G	17.37:g.41008322C>G	ENSP00000312326:p.Leu683Val		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L683V	ENST00000308423.2	37	c.2047	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527288	0.64860	.	.	ENSG00000131471	ENST00000308423	T	0.03831	3.79	4.91	2.76	0.32466	Copper amine oxidase, C-terminal (3);	0.151199	0.46145	D	0.000308	T	0.19406	0.0466	M	0.88842	2.985	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.18840	-1.0324	10	0.16420	T	0.52	.	8.6837	0.34225	0.0:0.731:0.0:0.269	.	683	Q16853	AOC3_HUMAN	V	683	ENSP00000312326:L683V	ENSP00000312326:L683V	L	+	1	2	AOC3	38261848	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.879000	0.39618	1.264000	0.44198	0.561000	0.74099	CTG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	C	NM_003734		41008322	1	no_errors	ENST00000308423	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41008322	C	G	41008322	3	3	74	1	0	0	0	0	1	0	0	0	728	912	32	1	2061	1	AOC3	17	41008322	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	241364	41008322	40186888	854	11549										
GPATCH8	23131	genome.wustl.edu	37	chr17	42477228	42477228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttcttggtggtgcgggactGccactcccagggggttctgg	16	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:42477228G>A	ENST00000591680.1	-	8	2247	c.2217C>T	c.(2215-2217)ggC>ggT	p.G739G	GPATCH8_ENST00000434000.1_Silent_p.G661G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	739							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGCGGGACTGCCACTCCCAG	0.532																																																	0													85	85	85					17																	42477228		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2217C>T	17.37:g.42477228G>A			B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.G739	ENST00000591680.1	37	c.2217	CCDS32666.1	17																																																																																			GPATCH8	-	NULL		0.532	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42477228	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	silent	SNP	0.998	A	A	42477228	G	A	42477228	2	1	74	1	0	0	0	0	0	0	0	1	6613	1306	46	4		4	GPATCH8	17	42477228	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1468906	42477228	38717982	855	11550										
NPEPPS	9520	genome.wustl.edu	37	chr17	45679078	45679078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaagccagagatgaatgtgGttttgaaaaatgtcaaacca	9	6	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:45679078G>T	ENST00000322157.4	+	15	1942	c.1705G>T	c.(1705-1707)Gtt>Ttt	p.V569F	RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V565F|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V489F|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	569					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GATGAATGTGGTTTTGAAAAA	0.398																																																	0													112	109	110					17																	45679078		1849	4089	5938	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1705G>T	17.37:g.45679078G>T	ENSP00000320324:p.Val569Phe		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V569F	ENST00000322157.4	37	c.1705	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271389	0.40194	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.01464	4.99;4.99;4.86	5.23	0.163	0.14986	.	0.655767	0.16532	N	0.210326	T	0.02727	0.0082	M	0.69823	2.125	0.38976	D	0.958847	B;B	0.18610	0.029;0.014	B;B	0.16289	0.015;0.015	T	0.32481	-0.9905	10	0.62326	D	0.03	.	7.4654	0.27318	0.1831:0.2525:0.5644:0.0	.	565;569	E9PLK3;P55786	.;PSA_HUMAN	F	565;569;556;489	ENSP00000433287:V565F;ENSP00000320324:V569F;ENSP00000442461:V489F	ENSP00000320324:V569F	V	+	1	0	NPEPPS	43034077	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.387000	0.34430	0.165000	0.19558	0.561000	0.74099	GTT	NPEPPS	-	NULL		0.398	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	G	NM_006310		45679078	1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	0.994	T	T	45679078	G	T	45679078	3	4	74	1	0	0	0	0	1	0	0	0	10599	1261	44	4	1763	4	NPEPPS	17	45679078	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3201850	45679078	35516132	856	11551										
HOXB9	3219	genome.wustl.edu	37	chr17	46703486	46703486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctttgggctggaagctgcacGaggggaactccaggtgctcc	15	11	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:46703486G>A	ENST00000311177.5	-	1	353	c.146C>T	c.(145-147)tCg>tTg	p.S49L	HOXB9_ENST00000550387.1_Missense_Mutation_p.S49L|HOXB-AS4_ENST00000480386.1_RNA|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	49					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GAAGCTGCACGAGGGGAACTC	0.682																																																	0													9	11	10					17																	46703486		2178	4264	6442	SO:0001583	missense	3219				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.146C>T	17.37:g.46703486G>A	ENSP00000309439:p.Ser49Leu		B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S49L	ENST00000311177.5	37	c.146	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.341567	0.95783	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	D	0.94537	-3.45	4.66	4.66	0.58398	Hox9, N-terminal activation domain (1);	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98766	1.0726	10	0.72032	D	0.01	.	17.8979	0.88895	0.0:0.0:1.0:0.0	.	49	P17482	HXB9_HUMAN	L	49	ENSP00000309439:S49L	ENSP00000309439:S49L	S	-	2	0	HOXB9	44058485	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.694000	0.98686	2.277000	0.76020	0.555000	0.69702	TCG	HOXB9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9		0.682	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	G			46703486	-1	no_errors	ENST00000311177	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46703486	G	A	46703486	3	1	74	1	0	0	0	0	1	0	0	0	7328	1059	37	1	614	1	HOXB9	17	46703486	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1024408	46703486	34491724	857	11552										
IGF2BP1	10642	genome.wustl.edu	37	chr17	47123299	47123299	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaggaggagaacttctttggTcccaaggaggaagtgaagct	14	6	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:47123299T>G	ENST00000290341.3	+	13	1777	c.1443T>G	c.(1441-1443)ggT>ggG	p.G481G	IGF2BP1_ENST00000431824.2_Silent_p.G342G	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	481	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTTCTTTGGTCCCAAGGAGG	0.498																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													63	57	59					17																	47123299		2203	4300	6503	SO:0001819	synonymous_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1443T>G	17.37:g.47123299T>G			C9JT33	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G481	ENST00000290341.3	37	c.1443	CCDS11543.1	17																																																																																			IGF2BP1	-	NULL		0.498	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	T	NM_006546		47123299	1	no_errors	ENST00000290341	ensembl	human	known	70_37	silent	SNP	0.922	G	G	47123299	T	G	47123299	2	3	74	1	0	0	0	0	0	0	0	1	7593	1654	58	5		5	IGF2BP1	17	47123299	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	419813	47123299	34071911	858	11553										
NGFR	4804	genome.wustl.edu	37	chr17	47590069	47590069	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctcctctggtttctctgcaGccctcaagggtgacggaggc	12	13	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:47590069G>T	ENST00000172229.3	+	6	1107		c.e6-1		NGFR_ENST00000504201.1_Splice_Site|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TTTCTCTGCAGCCCTCAAGGG	0.642																																																	0													51	55	53					17																	47590069		2188	4273	6461	SO:0001630	splice_region_variant	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.983-1G>T	17.37:g.47590069G>T			B2R961|B4E096	Splice_Site	SNP	-	e6-1	ENST00000172229.3	37	c.983-1	CCDS11549.1	17	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779812	0.70222	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9629	0.71169	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NGFR	44945068	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.989000	0.88205	2.242000	0.73789	0.561000	0.74099	.	NGFR	-	-		0.642	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	HGNC	protein_coding	OTTHUMT00000365150.1	G		Intron	47590069	1	no_errors	ENST00000172229	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	47590069	G	T	47590069	5	4	74	1	0	0	0	0	0	0	1	0	10420	985	34	4	1004	4	NGFR	17	47590069	Splice_Site	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	466770	47590069	33605141	859	11554										
PPM1D	8493	genome.wustl.edu	37	chr17	58740887	58740887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaatcctttacttcatcaaCacaggaaaactgtttgtgtt	6	8	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:58740887C>A	ENST00000305921.3	+	6	2024	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	598					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACTTCATCAACACAGGAAAAC	0.413																																																	0													70	72	71					17																	58740887		2203	4300	6503	SO:0001583	missense	8493			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1792C>A	17.37:g.58740887C>A	ENSP00000306682:p.His598Asn		Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.H598N	ENST00000305921.3	37	c.1792	CCDS11625.1	17	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509424	0.64522	.	.	ENSG00000170836	ENST00000305921	T	0.50813	0.73	5.98	5.98	0.97165	.	0.196194	0.53938	D	0.000060	T	0.41166	0.1147	L	0.29908	0.895	0.40988	D	0.984837	P	0.47106	0.89	B	0.40410	0.328	T	0.21895	-1.0232	10	0.35671	T	0.21	-6.8751	20.452	0.99131	0.0:1.0:0.0:0.0	.	598	O15297	PPM1D_HUMAN	N	598	ENSP00000306682:H598N	ENSP00000306682:H598N	H	+	1	0	PPM1D	56095669	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.086000	0.57664	2.838000	0.97847	0.591000	0.81541	CAC	PPM1D	-	NULL		0.413	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	C	NM_003620		58740887	1	no_errors	ENST00000305921	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58740887	C	A	58740887	3	1	74	1	0	0	0	0	1	0	0	0	12364	478	17	4	1814	4	PPM1D	17	58740887	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11150818	58740887	22454323	860	11555										
EFCAB3	146779	genome.wustl.edu	37	chr17	60493572	60493572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttaaggttatatgatgcctAtgtgaatagaaattcctccc	7	8	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:60493572A>G	ENST00000305286.3	+	10	1277	c.1199A>G	c.(1198-1200)tAt>tGt	p.Y400C	EFCAB3_ENST00000450662.2_Missense_Mutation_p.Y452C	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	400							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TATGATGCCTATGTGAATAGA	0.373																																																	0													108	115	113					17																	60493572		2203	4300	6503	SO:0001583	missense	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1199A>G	17.37:g.60493572A>G	ENSP00000302649:p.Tyr400Cys		J3KQM8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.Y452C	ENST00000305286.3	37	c.1355	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	A	0.520	-0.862616	0.02610	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.59224	0.28;0.3	4.94	1.33	0.21861	.	1.629100	0.03137	N	0.166109	T	0.54415	0.1857	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31779	-0.9931	10	0.45353	T	0.12	.	6.3387	0.21310	0.529:0.0:0.471:0.0	.	400	Q8N7B9	EFCB3_HUMAN	C	452;400	ENSP00000403932:Y452C;ENSP00000302649:Y400C	ENSP00000302649:Y400C	Y	+	2	0	EFCAB3	57847304	0.341000	0.24801	0.010000	0.14722	0.031000	0.12232	1.074000	0.30703	0.099000	0.17552	0.454000	0.30748	TAT	EFCAB3	-	NULL		0.373	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	A	NM_173503		60493572	1	no_errors	ENST00000450662	ensembl	human	known	70_37	missense	SNP	0.011	G	G	60493572	A	G	60493572	3	3	74	1	0	0	0	0	1	0	0	0	4945	449	16	5	1401	5	EFCAB3	17	60493572	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1752685	60493572	20701638	861	11556										
CCDC47	57003	genome.wustl.edu	37	chr17	61831833	61831833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagaactggtctgaaaaatGaacagattcaatcttgtcag	9	6	4	4	rs555359336		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:61831833G>A	ENST00000225726.5	-	9	1376	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000582252.1_Missense_Mutation_p.H332Y|CCDC47_ENST00000403162.3_Missense_Mutation_p.H332Y	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	332					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTGAAAAATGAACAGATTCA	0.299													G|||	1	0.000199681	0	0	5008	,	,		20546	0		0	False		,,,				2504	0.001																0													55	56	56					17																	61831833		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.994C>T	17.37:g.61831833G>A	ENSP00000225726:p.His332Tyr		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.H332Y	ENST00000225726.5	37	c.994	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064823	0.55432	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.95	5.95	0.96441	.	0.041853	0.85682	D	0.000000	T	0.76442	0.3988	M	0.83118	2.625	0.80722	D	1	B;P	0.39404	0.435;0.672	B;P	0.49752	0.352;0.621	T	0.72097	-0.4393	9	0.02654	T	1	-20.9731	19.367	0.94468	0.0:0.0:1.0:0.0	.	332;332	Q96A33-2;Q96A33	.;CCD47_HUMAN	Y	332	.	ENSP00000225726:H332Y	H	-	1	0	CCDC47	59185565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.857000	0.99534	2.826000	0.97356	0.563000	0.77884	CAT	CCDC47	-	pfam_DUF1682		0.299	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	G	NM_020198		61831833	-1	no_errors	ENST00000225726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61831833	G	A	61831833	3	1	74	1	0	0	0	0	1	0	0	0	2823	1290	45	1	477	1	CCDC47	17	61831833	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1338261	61831833	19363377	862	11557										
CCDC46	201134	genome.wustl.edu	37	chr17	64092438	64092438	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gattttctcaggctgaatttCggtgtcatctgctaaatgaa	9	7	3	2	rs371306725		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:64092438C>T	ENST00000392769.2	-	8	917	c.699G>A	c.(697-699)ccG>ccA	p.P233P	CEP112_ENST00000535342.2_Silent_p.P233P|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	233					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GGCTGAATTTCGGTGTCATCT	0.393																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	123	112	116		699,699	-6.8	0.9	17		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	233/956,233/956	64092438	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.699G>A	17.37:g.64092438C>T			Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	superfamily_t-SNARE	p.P233	ENST00000392769.2	37	c.699	CCDS32710.1	17																																																																																			CEP112	-	NULL		0.393	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	C	NM_145036		64092438	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	silent	SNP	0.527	T	T	64092438	C	T	64092438	2	4	74	1	0	0	0	0	0	0	0	1	2822	871	31	1		1	CCDC46	17	64092438	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2260605	64092438	17102772	863	11558										
ABCA9	10350	genome.wustl.edu	37	chr17	67023208	67023208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggagattccatattcggtgCcttgaaagaggatccaatcc	10	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:67023208C>A	ENST00000340001.4	-	15	2170	c.1959G>T	c.(1957-1959)agG>agT	p.R653S	ABCA9_ENST00000370732.2_Missense_Mutation_p.R653S|ABCA9_ENST00000453985.2_Missense_Mutation_p.R653S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	653	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATATTCGGTGCCTTGAAAGAG	0.438																																																	0													80	80	80					17																	67023208		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1959G>T	17.37:g.67023208C>A	ENSP00000342216:p.Arg653Ser		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R653S	ENST00000340001.4	37	c.1959	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972624	0.34848	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.41065	1.01;1.01	5.31	-0.424	0.12321	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.53938	D	0.000055	T	0.52741	0.1753	L	0.60904	1.88	0.46356	D	0.999007	D;D	0.76494	0.999;0.993	D;D	0.68353	0.954;0.957	T	0.52358	-0.8586	10	0.87932	D	0	.	9.1717	0.37086	0.0:0.5911:0.0:0.4089	.	653;653	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	653;636;653;648	ENSP00000342216:R653S;ENSP00000359767:R653S	ENSP00000342216:R653S	R	-	3	2	ABCA9	64534803	0.769000	0.28531	0.101000	0.21167	0.006000	0.05464	-0.059000	0.11731	0.020000	0.15106	-0.225000	0.12378	AGG	ABCA9	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	C	NM_172386		67023208	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	missense	SNP	0.972	A	A	67023208	C	A	67023208	3	1	74	1	0	0	0	0	1	0	0	0	39	738	26	4	3015	4	ABCA9	17	67023208	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2930770	67023208	14172002	864	11559										
ABCA9	10350	genome.wustl.edu	37	chr17	67039792	67039792	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctccttgggcaacaaaaggtAatatcttcatatgtacacca	6	10	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:67039792A>T	ENST00000340001.4	-	6	849	c.638T>A	c.(637-639)tTa>tAa	p.L213*	ABCA9_ENST00000495634.1_Nonsense_Mutation_p.L213*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.L213*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.L213*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	213					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AACAAAAGGTAATATCTTCAT	0.318																																																	0													91	91	91					17																	67039792		2203	4300	6503	SO:0001587	stop_gained	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.638T>A	17.37:g.67039792A>T	ENSP00000342216:p.Leu213*		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L213*	ENST00000340001.4	37	c.638	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854580	0.71719	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	4.73	-0.339	0.12647	.	0.789213	0.10292	N	0.692219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	2.7694	0.05329	0.3973:0.0:0.2779:0.3247	.	.	.	.	X	213;196;213;208	.	ENSP00000342216:L213X	L	-	2	0	ABCA9	64551387	0.000000	0.05858	0.004000	0.12327	0.644000	0.38419	-0.076000	0.11412	0.080000	0.16959	0.491000	0.48974	TTA	ABCA9	-	NULL		0.318	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	A	NM_172386		67039792	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	67039792	A	T	67039792	4	4	74	1	0	0	0	0	0	1	0	0	39	372	13	5	4372	5	ABCA9	17	67039792	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	16584	67039792	14155418	865	11560										
ABCA5	23461	genome.wustl.edu	37	chr17	67309320	67309320	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tccaagaattagattagaaaGagtaaacttgtccataggat	8	5	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:67309320G>C	ENST00000392676.3	-	3	284	c.220C>G	c.(220-222)Ctt>Gtt	p.L74V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L74V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L74V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	74					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AGATTAGAAAGAGTAAACTTG	0.313																																																	0													87	92	90					17																	67309320		2203	4296	6499	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.220C>G	17.37:g.67309320G>C	ENSP00000376443:p.Leu74Val		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L74V	ENST00000392676.3	37	c.220	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	0.856	-0.736820	0.03111	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.46451	0.87;0.87	5.0	2.95	0.34219	.	0.231598	0.30492	N	0.009519	T	0.32763	0.0840	L	0.54323	1.7	0.09310	N	1	B;B	0.29378	0.102;0.243	B;B	0.30572	0.044;0.117	T	0.15464	-1.0436	9	.	.	.	.	4.621	0.12449	0.1598:0.0:0.5213:0.3189	.	74;74	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	74	ENSP00000376444:L74V;ENSP00000376443:L74V	.	L	-	1	0	ABCA5	64820915	0.763000	0.28462	0.015000	0.15790	0.065000	0.16274	1.270000	0.33086	1.049000	0.40321	0.585000	0.79938	CTT	ABCA5	-	NULL		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	G	NM_018672		67309320	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	0.008	C	C	67309320	G	C	67309320	3	2	74	1	0	0	0	0	1	0	0	0	35	942	33	1	4856	1	ABCA5	17	67309320	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	269528	67309320	13885890	866	11561										
CD300LD	100131439	genome.wustl.edu	37	chr17	72584927	72584927	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taagcacactgcacagtcaaTgagccctgctccgagccatt	8	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:72584927T>G	ENST00000375352.1	-	2	182	c.102A>C	c.(100-102)tcA>tcC	p.S34S	C17orf77_ENST00000328023.2_5'Flank|C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	34	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCACAGTCAATGAGCCCTGCT	0.493																																																	0													135	111	118					17																	72584927		1568	3582	5150	SO:0001819	synonymous_variant	100131439				CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"Immunoglobulin superfamily / V-set domain containing"	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.102A>C	17.37:g.72584927T>G				Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S34	ENST00000375352.1	37	c.102	CCDS42379.1	17																																																																																			CD300LD	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.493	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300LD	HGNC	protein_coding	OTTHUMT00000145099.1	T	NM_001115152		72584927	-1	no_errors	ENST00000375352	ensembl	human	known	70_37	silent	SNP	0.000	G	G	72584927	T	G	72584927	2	3	74	1	0	0	0	0	0	0	0	1	3005	1451	51	5		5	CD300LD	17	72584927	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	5275607	72584927	8610283	867	11562										
USH1G	124590	genome.wustl.edu	37	chr17	72915595	72915595	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgctccatcgcctgccgccGcctcctcacggcccccaaga	9	22	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:72915595G>T	ENST00000319642.1	-	2	1518	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	446	Poly-Arg.|SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCTGCCGCCGCCTCCTCACG	0.677																																																	0													17	21	20					17																	72915595		2164	4252	6416	SO:0001819	synonymous_variant	124590			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1336C>A	17.37:g.72915595G>T			Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R446	ENST00000319642.1	37	c.1336	CCDS32725.1	17																																																																																			USH1G	-	superfamily_SAM/pointed,smart_SAM		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	G	NM_173477		72915595	-1	no_errors	ENST00000319642	ensembl	human	known	70_37	silent	SNP	0.970	T	T	72915595	G	T	72915595	2	4	74	1	0	0	0	0	0	0	0	1	17066	1086	38	2		2	USH1G	17	72915595	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	330668	72915595	8279615	868	11563										
C17orf28	283987	genome.wustl.edu	37	chr17	72952038	72952038	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcaccatggacaggctcttGaggtagggggacactgtaag	15	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:72952038G>A	ENST00000425042.2	-	13	1562	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	495					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ACAGGCTCTTGAGGTAGGGGG	0.627																																																	0													105	101	102					17																	72952038		2203	4300	6503	SO:0001819	synonymous_variant	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1485C>T	17.37:g.72952038G>A			Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	pfam_Dymeclin	p.L495	ENST00000425042.2	37	c.1485	CCDS32726.1	17																																																																																			HID1	-	pfam_Dymeclin		0.627	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	G	NM_030630		72952038	-1	no_errors	ENST00000425042	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72952038	G	A	72952038	2	1	74	1	0	0	0	0	0	0	0	1	1857	1277	45	1		1	C17orf28	17	72952038	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	36443	72952038	8243172	869	11564										
EVPL	2125	genome.wustl.edu	37	chr17	74018065	74018065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgcgtgcagccctggaggtgCgtgtacaggctgcccaggct	16	13	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:74018065C>T	ENST00000301607.3	-	7	943	c.690G>A	c.(688-690)acG>acA	p.T230T	EVPL_ENST00000586740.1_Silent_p.T230T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	230	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGAGGTGCGTGTACAGGC	0.716																																																	0													5	7	7					17																	74018065		2116	4167	6283	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.690G>A	17.37:g.74018065C>T			A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.T230	ENST00000301607.3	37	c.690	CCDS11737.1	17																																																																																			EVPL	-	smart_Spectrin/alpha-actinin		0.716	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	C	NM_001988		74018065	-1	no_errors	ENST00000301607	ensembl	human	known	70_37	silent	SNP	0.343	T	T	74018065	C	T	74018065	2	4	74	1	0	0	0	0	0	0	0	1	5304	755	27	2		2	EVPL	17	74018065	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1066027	74018065	7177145	870	11565										
CANT1	124583	genome.wustl.edu	37	chr17	76993650	76993650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaggccccccacactgatccGgagggagtgcatagactcat	11	13	1	2	rs548806863		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:76993650G>A	ENST00000302345.2	-	2	549	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	CANT1_ENST00000392446.5_Missense_Mutation_p.R19W|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.R19W	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	19					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACTGATCCGGAGGGAGTGC	0.647			T	ETV4	prostate								G|||	1	0.000199681	0	0	5008	,	,		12801	0		0.001	False		,,,				2504	0							Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0													21	21	21					17																	76993650		2203	4298	6501	SO:0001583	missense	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.55C>T	17.37:g.76993650G>A	ENSP00000307674:p.Arg19Trp		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	pfam_Apyrase,superfamily_Apyrase	p.R19W	ENST00000302345.2	37	c.55	CCDS11760.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663015	0.88251	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.87412	-2.25;-2.25	5.09	4.12	0.48240	.	0.112719	0.64402	N	0.000013	D	0.85695	0.5756	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	P	0.56088	0.791	D	0.85594	0.1248	10	0.87932	D	0	-30.4546	8.3032	0.32027	0.0801:0.0:0.7656:0.1543	.	19	Q8WVQ1	CANT1_HUMAN	W	19	ENSP00000307674:R19W;ENSP00000376241:R19W	ENSP00000307674:R19W	R	-	1	2	CANT1	74505245	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.583000	0.67484	1.138000	0.42230	0.555000	0.69702	CGG	CANT1	-	NULL		0.647	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CANT1	HGNC	protein_coding	OTTHUMT00000437723.2	G	NM_138793		76993650	-1	no_errors	ENST00000302345	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76993650	G	A	76993650	3	1	74	1	0	0	0	0	1	0	0	0	2622	1115	39	2	1162	2	CANT1	17	76993650	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2975585	76993650	4201560	871	11566										
RNF213	57674	genome.wustl.edu	37	chr17	78337555	78337555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gatgagcacatgcaaggcagCgggagcctggcccaggctgt	16	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:78337555C>T	ENST00000582970.1	+	41	11858	c.11715C>T	c.(11713-11715)agC>agT	p.S3905S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.S1978S|RNF213_ENST00000508628.2_Silent_p.S3954S|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3905					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCAAGGCAGCGGGAGCCTGG	0.617																																																	0													49	37	41					17																	78337555		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11715C>T	17.37:g.78337555C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S3905	ENST00000582970.1	37	c.11715	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78337555	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.000	T	T	78337555	C	T	78337555	2	4	74	1	0	0	0	0	0	0	0	1	13507	767	27	2		2	RNF213	17	78337555	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1343905	78337555	2857655	872	11567										
RPTOR	57521	genome.wustl.edu	37	chr17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctctgcacgtccttacgtcGcaacgccaaggaggagcgag	13	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557																																																	0													70	60	63					17																	78681708		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.416G>A	17.37:g.78681708G>A	ENSP00000307272:p.Arg139His		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.R139H	ENST00000306801.3	37	c.416	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	RPTOR	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC	RPTOR	-	prints_Raptor		0.557	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	G	NM_020761		78681708	1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	0.906	A	A	78681708	G	A	78681708	3	1	74	1	0	0	0	0	1	0	0	0	13695	1087	38	2	430	2	RPTOR	17	78681708	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	344153	78681708	2513502	873	11568										
C17orf56	146705	genome.wustl.edu	37	chr17	79202880	79202880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggcggggacaggccaccaGctccatgccagcaaacaagg	13	14	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:79202880G>A	ENST00000300714.3	-	12	1483	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.L392L	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	476						cytoplasmic vesicle (GO:0031410)											CAGGCCACCAGCTCCATGCCA	0.687																																																	0													35	39	37					17																	79202880		2203	4300	6503	SO:0001819	synonymous_variant	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1426C>T	17.37:g.79202880G>A			Q6ZQU0|Q6ZSQ9	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.L476	ENST00000300714.3	37	c.1426	CCDS11779.1	17																																																																																			ENTHD2	-	NULL		0.687	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	G	NM_144679		79202880	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	silent	SNP	1.000	A	A	79202880	G	A	79202880	2	1	74	1	0	0	0	0	0	0	0	1	1868	962	34	4		4	C17orf56	17	79202880	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	521172	79202880	1992330	874	11569										
FSCN2	25794	genome.wustl.edu	37	chr17	79503718	79503718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcgcggcctggacggcttCgtctgccaccaccgcggctc	13	18	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:79503718C>T	ENST00000417245.2	+	4	1312	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	FSCN2_ENST00000334850.7_Silent_p.F416F	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	392					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGACGGCTTCGTCTGCCACC	0.667																																																	0													15	21	19					17																	79503718		2144	4230	6374	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1176C>T	17.37:g.79503718C>T			A0AVC4|A8MRA6	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.F416	ENST00000417245.2	37	c.1248	CCDS45811.1	17																																																																																			FSCN2	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.667	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	C	NM_012418		79503718	1	no_errors	ENST00000334850	ensembl	human	known	70_37	silent	SNP	0.996	T	T	79503718	C	T	79503718	2	4	74	1	0	0	0	0	0	0	0	1	6086	883	31	1		1	FSCN2	17	79503718	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	300838	79503718	1691492	875	11570										
GPS1	2873	genome.wustl.edu	37	chr17	80011870	80011870	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccctctccttcgtgcagagaAcctttaacgtggacatgtac	8	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:80011870A>T	ENST00000306823.6	+	3	276	c.253A>T	c.(253-255)Acc>Tcc	p.T85S	GPS1_ENST00000320548.4_Missense_Mutation_p.T69S|GPS1_ENST00000355130.2_Missense_Mutation_p.T125S|GPS1_ENST00000392358.2_Missense_Mutation_p.T125S|RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000578552.1_Missense_Mutation_p.T85S|RFNG_ENST00000310496.4_5'Flank			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	85					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGTGCAGAGAACCTTTAACGT	0.617																																																	0													68	53	58					17																	80011870		2202	4296	6498	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.253A>T	17.37:g.80011870A>T	ENSP00000302873:p.Thr85Ser		Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.T125S	ENST00000306823.6	37	c.373	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806804	0.50421	.	.	ENSG00000169727	ENST00000392358;ENST00000306823;ENST00000355130	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	T	0.60766	0.2294	L	0.48986	1.54	0.80722	D	1	P;D;P;P;D	0.61697	0.691;0.982;0.582;0.686;0.99	B;P;B;P;P	0.57468	0.391;0.666;0.382;0.533;0.821	T	0.58381	-0.7646	8	0.06625	T	0.88	.	13.8889	0.63726	1.0:0.0:0.0:0.0	.	77;125;85;85;125	B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.;.;.;CSN1_HUMAN;.	S	125;85;125	.	ENSP00000302873:T85S	T	+	1	0	GPS1	77605159	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.494000	0.90477	1.846000	0.53633	0.460000	0.39030	ACC	GPS1	-	NULL		0.617	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	A	NM_212492		80011870	1	no_errors	ENST00000355130	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80011870	A	T	80011870	3	4	74	1	0	0	0	0	1	0	0	0	6752	43	2	5	420	5	GPS1	17	80011870	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	508152	80011870	1183340	876	11571										
DLGAP1	9229	genome.wustl.edu	37	chr18	3534369	3534369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcaatccaggggtccggagGaggcagaatagaggggtcaa	17	7	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:3534369G>T	ENST00000315677.3	-	10	2897	c.2302C>A	c.(2302-2304)Cct>Act	p.P768T	DLGAP1_ENST00000584874.1_Missense_Mutation_p.P768T|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P452T|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P476T|DLGAP1_ENST00000400150.3_Missense_Mutation_p.P484T|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P466T|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P474T|DLGAP1_ENST00000400149.3_Missense_Mutation_p.P458T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P768T|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P474T|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P768T|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P466T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	768					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGGTCCGGAGGAGGCAGAATA	0.562																																																	0													90	76	81					18																	3534369		2203	4300	6503	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2302C>A	18.37:g.3534369G>T	ENSP00000316377:p.Pro768Thr		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.P768T	ENST00000315677.3	37	c.2302	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942523	0.73672	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998;0.999;0.998;0.996	T	0.74612	-0.3607	10	0.72032	D	0.01	-20.316	20.3311	0.98718	0.0:0.0:1.0:0.0	.	768;452;464;474;476;466;768;466	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	T	768;466;484;458;474;452;476;466;768	ENSP00000316377:P768T;ENSP00000383011:P466T;ENSP00000383014:P484T;ENSP00000383013:P458T;ENSP00000383019:P474T;ENSP00000437817:P452T;ENSP00000446312:P476T;ENSP00000383010:P466T;ENSP00000445973:P768T	ENSP00000316377:P768T	P	-	1	0	DLGAP1	3524369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.797000	0.96272	0.655000	0.94253	CCT	DLGAP1	-	pfam_GKAP		0.562	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	G			3534369	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3534369	G	T	3534369	3	4	74	1	0	0	0	0	1	0	0	0	4569	1174	41	3	647	3	DLGAP1	18	3534369	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09		3534369	74542879	877	11572										
ARHGAP28	79822	genome.wustl.edu	37	chr18	6894870	6894870	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttcaaaggtactgcaaaaaTcaccctcggcaagacgaatg	8	11	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:6894870T>G	ENST00000383472.4	+	15	1989	c.1885T>G	c.(1885-1887)Tca>Gca	p.S629A	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S452A|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S465A|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S629A|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S470A|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S577A|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S470A|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S470A			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	629					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACTGCAAAAATCACCCTCGGC	0.383																																																	0													120	115	117					18																	6894870		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1885T>G	18.37:g.6894870T>G	ENSP00000372964:p.Ser629Ala		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S629A	ENST00000383472.4	37	c.1885		18	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886579	0.33348	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08193	3.28;3.24;3.21;3.21;3.21;3.12	4.82	3.63	0.41609	.	0.000000	0.44285	D	0.000465	T	0.06096	0.0158	L	0.39898	1.24	0.29050	N	0.884543	P;B;B;B	0.39782	0.688;0.086;0.064;0.079	B;B;B;B	0.31946	0.138;0.053;0.113;0.032	T	0.19745	-1.0296	10	0.39692	T	0.17	.	7.6739	0.28473	0.2019:0.0:0.0:0.7981	.	629;461;470;577	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	A	629;577;470;465;470;470;461;452	ENSP00000382963:S629A;ENSP00000262227:S577A;ENSP00000392660:S470A;ENSP00000437262:S465A;ENSP00000313506:S470A;ENSP00000406907:S470A	ENSP00000262227:S577A	S	+	1	0	ARHGAP28	6884870	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.892000	0.39748	0.940000	0.37473	0.533000	0.62120	TCA	ARHGAP28	-	NULL		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	T	XM_371108		6894870	1	no_errors	ENST00000400091	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6894870	T	G	6894870	3	3	74	1	0	0	0	0	1	0	0	0	877	1435	50	5	1458	5	ARHGAP28	18	6894870	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3360501	6894870	71182378	878	11573										
ZNF521	25925	genome.wustl.edu	37	chr18	22806010	22806010	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgggacgtgcaggtgcaccTcctactgcctgcatcatctt	11	13	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:22806010T>A	ENST00000361524.3	-	4	2020	c.1872A>T	c.(1870-1872)ggA>ggT	p.G624G	ZNF521_ENST00000538137.2_Silent_p.G624G|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.G404G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	624					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGGTGCACCTCCTACTGCCT	0.473			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													120	111	114					18																	22806010		2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1872A>T	18.37:g.22806010T>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G624	ENST00000361524.3	37	c.1872	CCDS32806.1	18																																																																																			ZNF521	-	NULL		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	T	NM_015461		22806010	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	silent	SNP	0.598	A	A	22806010	T	A	22806010	2	1	74	1	0	0	0	0	0	0	0	1	17995	1538	54	5		5	ZNF521	18	22806010	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	15911140	22806010	55271238	879	11574										
PSMA8	143471	genome.wustl.edu	37	chr18	23714030	23714030	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgaagaaaggatccaccgCggtgaggaagcaactattac	13	8	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:23714030C>T	ENST00000308268.6	+	1	190	c.101C>T	c.(100-102)gCg>gTg	p.A34V	PSMA8_ENST00000343848.6_Splice_Site_p.A34V|PSMA8_ENST00000415576.2_Splice_Site_p.A34V	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	34					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GGATCCACCGCGGTGAGGAAG	0.547																																																	0													83	75	78					18																	23714030		2203	4300	6503	SO:0001630	splice_region_variant	143471			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.102+1C>T	18.37:g.23714030C>T			B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.A34V	ENST00000308268.6	37	c.101	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933293	0.52866	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.21031	2.06;2.06;2.03	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	M	0.64567	1.98	0.80722	D	1	P;P;B	0.47484	0.759;0.896;0.301	B;B;B	0.35813	0.152;0.211;0.112	T	0.04440	-1.0951	10	0.49607	T	0.09	-8.3661	11.5278	0.50591	0.0:0.914:0.0:0.086	.	34;34;34	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	V	34	ENSP00000311121:A34V;ENSP00000409284:A34V;ENSP00000345584:A34V	ENSP00000311121:A34V	A	+	2	0	PSMA8	21968028	1.000000	0.71417	0.988000	0.46212	0.915000	0.54546	4.068000	0.57534	1.459000	0.47892	0.655000	0.94253	GCG	PSMA8	-	pfam_Proteasome_sua/b		0.547	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	HGNC	protein_coding	OTTHUMT00000446255.1	C	NM_144662	Missense_Mutation	23714030	1	no_errors	ENST00000308268	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23714030	C	T	23714030	5	4	74	1	0	0	0	0	0	0	1	0	12700	782	27	2	103	2	PSMA8	18	23714030	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	908020	23714030	54363218	880	11575										
NOL4	8715	genome.wustl.edu	37	chr18	31599440	31599440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggttcagtggctgttcatCttgctccagcccagttttgc	10	12	3	0	rs370898845		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:31599440C>T	ENST00000261592.5	-	6	1195	c.898G>A	c.(898-900)Gat>Aat	p.D300N	NOL4_ENST00000535475.1_Missense_Mutation_p.D145N|NOL4_ENST00000269185.4_Missense_Mutation_p.D186N|NOL4_ENST00000535384.1_Missense_Mutation_p.D15N|NOL4_ENST00000589544.1_Missense_Mutation_p.D300N|NOL4_ENST00000538587.1_Missense_Mutation_p.D226N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	300						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCTGTTCATCTTGCTCCAGC	0.488																																																	0													177	150	159					18																	31599440		2203	4300	6503	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.898G>A	18.37:g.31599440C>T	ENSP00000261592:p.Asp300Asn		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.D300N	ENST00000261592.5	37	c.898	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808411	0.70797	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.61	5.61	0.85477	.	0.594341	0.17110	N	0.186642	T	0.81283	0.4790	L	0.29908	0.895	0.38834	D	0.955912	P;B;P;P;P;P;B;B	0.50369	0.73;0.449;0.934;0.493;0.493;0.934;0.135;0.277	B;B;P;B;B;P;B;B	0.46452	0.208;0.205;0.517;0.234;0.157;0.517;0.084;0.133	D	0.83771	0.0220	10	0.59425	D	0.04	-2.9526	19.6551	0.95832	0.0:1.0:0.0:0.0	.	186;49;15;226;300;15;300;145	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	N	300;186;49;15;145;226	ENSP00000261592:D300N;ENSP00000269185:D186N;ENSP00000445733:D15N;ENSP00000438190:D145N;ENSP00000443472:D226N	ENSP00000261592:D300N	D	-	1	0	NOL4	29853438	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	5.669000	0.68081	2.650000	0.89964	0.637000	0.83480	GAT	NOL4	-	NULL		0.488	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	C	NM_003787		31599440	-1	no_errors	ENST00000261592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31599440	C	T	31599440	3	4	74	1	0	0	0	0	1	0	0	0	10548	913	32	1	1042	1	NOL4	18	31599440	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7885410	31599440	46477808	881	11576										
PIK3C3	5289	genome.wustl.edu	37	chr18	39644745	39644745	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgttttccttgatggttgAtgcaaacattccagatattg	8	7	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:39644745A>T	ENST00000262039.4	+	23	2560	c.2474A>T	c.(2473-2475)gAt>gTt	p.D825V	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D762V|PIK3C3_ENST00000588156.1_Missense_Mutation_p.D49V|PIK3C3_ENST00000587328.1_Missense_Mutation_p.D3V|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D310V	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	825	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTGATGGTTGATGCAAACATT	0.299										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0													85	84	85					18																	39644745		2202	4300	6502	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2474A>T	18.37:g.39644745A>T	ENSP00000262039:p.Asp825Val		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.D825V	ENST00000262039.4	37	c.2474	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525462	0.85600	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.80909	-1.43;-1.43	6.16	6.16	0.99307	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	H	0.94264	3.515	0.80722	D	1	D;D	0.67145	0.996;0.989	D;D	0.72982	0.979;0.953	D	0.94311	0.7545	9	.	.	.	.	16.4795	0.84153	1.0:0.0:0.0:0.0	.	762;825	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	V	825;762	ENSP00000262039:D825V;ENSP00000381845:D762V	.	D	+	2	0	PIK3C3	37898743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.737000	0.91562	2.367000	0.80283	0.528000	0.53228	GAT	PIK3C3	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom		0.299	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	A	NM_002647		39644745	1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39644745	A	T	39644745	3	4	74	1	0	0	0	0	1	0	0	0	11936	333	12	5	2564	5	PIK3C3	18	39644745	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	8045305	39644745	38432503	882	11577										
SKA1	220134	genome.wustl.edu	37	chr18	47917639	47917639	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctctatcacagatttattGatgaagaaacgaaggatacc	7	7	2	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:47917639G>C	ENST00000285116.3	+	6	806	c.595G>C	c.(595-597)Gat>Cat	p.D199H	SKA1_ENST00000417656.2_Missense_Mutation_p.D153H|SKA1_ENST00000488454.1_Missense_Mutation_p.D48H|SKA1_ENST00000398452.2_Missense_Mutation_p.D199H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	199					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						CAGATTTATTGATGAAGAAAC	0.328																																																	0													64	66	65					18																	47917639		2202	4300	6502	SO:0001583	missense	220134			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.595G>C	18.37:g.47917639G>C	ENSP00000285116:p.Asp199His		B2R9Y6|B4E0P4	Missense_Mutation	SNP	pfam_DUF1395	p.D199H	ENST00000285116.3	37	c.595	CCDS11946.1	18	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878749	0.51801	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.55052	0.54;0.54;0.54	6.02	1.6	0.23607	.	0.414434	0.29715	N	0.011395	T	0.47135	0.1429	L	0.40543	1.245	0.38405	D	0.945769	P;P	0.38335	0.573;0.627	B;P	0.45998	0.366;0.5	T	0.47446	-0.9117	10	0.72032	D	0.01	-8.586	6.7755	0.23617	0.2115:0.1441:0.6444:0.0	.	153;199	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	H	199;153;199	ENSP00000285116:D199H;ENSP00000397222:D153H;ENSP00000381470:D199H	ENSP00000285116:D199H	D	+	1	0	SKA1	46171637	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.463000	0.53050	0.257000	0.21650	-0.137000	0.14449	GAT	SKA1	-	pfam_DUF1395		0.328	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA1	HGNC	protein_coding	OTTHUMT00000255982.2	G	NM_145060		47917639	1	no_errors	ENST00000285116	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47917639	G	C	47917639	3	2	74	1	0	0	0	0	1	0	0	0	14382	1290	45	1	613	1	SKA1	18	47917639	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	8272894	47917639	30159609	883	11578										
SMAD4	4089	genome.wustl.edu	37	chr18	48573511	48573511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccatagacaaggtggagagaGtgaaacatttgcaaaaagag	12	5	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:48573511G>C	ENST00000342988.3	+	2	633	c.95G>C	c.(94-96)aGt>aCt	p.S32T	SMAD4_ENST00000452201.2_Missense_Mutation_p.S32T|SMAD4_ENST00000588745.1_Missense_Mutation_p.S32T|SMAD4_ENST00000398417.2_Missense_Mutation_p.S32T|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	32	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTGGAGAGAGTGAAACATTT	0.353																																																	41	Whole gene deletion(36)|Unknown(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)											132	124	126					18																	48573511		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.95G>C	18.37:g.48573511G>C	ENSP00000341551:p.Ser32Thr		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S32T	ENST00000342988.3	37	c.95	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506315	0.64410	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.71817	-0.6;-0.6;-0.6	5.86	5.86	0.93980	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (1);	0.040380	0.85682	D	0.000000	T	0.60612	0.2282	N	0.21142	0.635	0.58432	D	0.999999	B	0.15930	0.015	B	0.10450	0.005	T	0.52917	-0.8511	10	0.33141	T	0.24	.	18.9469	0.92625	0.0:0.0:1.0:0.0	.	32	Q13485	SMAD4_HUMAN	T	32	ENSP00000409551:S32T;ENSP00000341551:S32T;ENSP00000381452:S32T	ENSP00000341551:S32T	S	+	2	0	SMAD4	46827509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.781000	0.75068	2.774000	0.95407	0.655000	0.94253	AGT	SMAD4	-	superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.353	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	G	NM_005359		48573511	1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48573511	G	C	48573511	3	2	74	1	0	0	0	0	1	0	0	0	14790	1029	36	4	97	4	SMAD4	18	48573511	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	655872	48573511	29503737	884	11579										
TXNL1	9352	genome.wustl.edu	37	chr18	54305579	54305579	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgagcctggcctcaccctctCatggtgaacttgaccacggc	10	16	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:54305579C>T	ENST00000217515.6	-	1	297	c.93G>A	c.(91-93)atG>atA	p.M31I	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.M31I	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	31	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTCACCCTCTCATGGTGAACT	0.632																																																	0													38	32	34					18																	54305579		2203	4300	6503	SO:0001583	missense	9352			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.93G>A	18.37:g.54305579C>T	ENSP00000217515:p.Met31Ile			Missense_Mutation	SNP	pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold	p.M31I	ENST00000217515.6	37	c.93	CCDS11961.1	18	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839366	0.71488	.	.	ENSG00000091164	ENST00000217515	T	0.03212	4.01	5.3	5.3	0.74995	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (2);	0.074346	0.85682	D	0.000000	T	0.04634	0.0126	L	0.34521	1.04	0.80722	D	1	B;B	0.15141	0.005;0.012	B;B	0.15870	0.014;0.003	T	0.36672	-0.9738	10	0.87932	D	0	.	14.4516	0.67389	0.0:1.0:0.0:0.0	.	31;31	B2R960;O43396	.;TXNL1_HUMAN	I	31	ENSP00000217515:M31I	ENSP00000217515:M31I	M	-	3	0	TXNL1	52456577	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.984000	0.56923	2.481000	0.83766	0.462000	0.41574	ATG	TXNL1	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.632	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	C			54305579	-1	no_errors	ENST00000217515	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54305579	C	T	54305579	3	4	74	1	0	0	0	0	1	0	0	0	16835	826	29	1	808	1	TXNL1	18	54305579	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5732068	54305579	23771669	885	11580										
RNF152	220441	genome.wustl.edu	37	chr18	59483144	59483144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agacatgttgtgaagcacgaTgccgaggaggaagaccaaga	14	7	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:59483144T>C	ENST00000312828.3	-	2	1652	c.553A>G	c.(553-555)Atc>Gtc	p.I185V		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	185					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGAAGCACGATGCCGAGGAGG	0.572																																																	0													134	119	124					18																	59483144		2203	4300	6503	SO:0001583	missense	220441			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"RING-type (C3HC4) zinc fingers"	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.553A>G	18.37:g.59483144T>C	ENSP00000316628:p.Ile185Val		B3KV99|Q52LA4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I185V	ENST00000312828.3	37	c.553	CCDS11978.1	18	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999926	0.74818	.	.	ENSG00000176641	ENST00000312828	D	0.84873	-1.91	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	L	0.29908	0.895	0.58432	D	0.99999	P	0.37083	0.581	P	0.55824	0.785	D	0.83528	0.0089	10	0.25751	T	0.34	-2.401	14.3157	0.66450	0.0:0.0:0.0:1.0	.	185	Q8N8N0	RN152_HUMAN	V	185	ENSP00000316628:I185V	ENSP00000316628:I185V	I	-	1	0	RNF152	57634124	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.186000	0.77722	1.991000	0.58162	0.460000	0.39030	ATC	RNF152	-	NULL		0.572	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF152	HGNC	protein_coding	OTTHUMT00000256180.1	T	NM_173557		59483144	-1	no_errors	ENST00000312828	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59483144	T	C	59483144	3	2	74	1	0	0	0	0	1	0	0	0	13483	1464	51	5	62	5	RNF152	18	59483144	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	5177565	59483144	18594104	886	11581										
CDH19	28513	genome.wustl.edu	37	chr18	64172242	64172242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaaaggaggggcacacggaTcagtattagcttcttcgagc	12	9	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:64172242T>A	ENST00000262150.2	-	12	2418	c.2126A>T	c.(2125-2127)gAt>gTt	p.D709V		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGCACACGGATCAGTATTAGC	0.493																																																	0													136	130	132					18																	64172242		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2126A>T	18.37:g.64172242T>A	ENSP00000262150:p.Asp709Val		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D709V	ENST00000262150.2	37	c.2126	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964506	0.74131	.	.	ENSG00000071991	ENST00000262150	T	0.80480	-1.38	5.19	4.04	0.47022	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91509	0.7319	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92173	0.5745	10	0.87932	D	0	.	10.8659	0.46856	0.0:0.0741:0.0:0.9259	.	709	Q9H159	CAD19_HUMAN	V	709	ENSP00000262150:D709V	ENSP00000262150:D709V	D	-	2	0	CDH19	62323222	1.000000	0.71417	0.379000	0.26080	0.862000	0.49288	7.489000	0.81451	0.925000	0.37094	0.533000	0.62120	GAT	CDH19	-	pfam_Cadherin_cytoplasmic-dom		0.493	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	T	NM_021153		64172242	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	missense	SNP	0.999	A	A	64172242	T	A	64172242	3	1	74	1	0	0	0	0	1	0	0	0	3109	1435	50	5	196	5	CDH19	18	64172242	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4689098	64172242	13905006	887	11582										
RTTN	25914	genome.wustl.edu	37	chr18	67860578	67860578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctctgggtcgctggcctgtgCgcccaaccacagaaggccga	13	15	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:67860578C>G	ENST00000255674.6	-	8	1239	c.953G>C	c.(952-954)cGc>cCc	p.R318P	RTTN_ENST00000454359.1_Missense_Mutation_p.R318P|RTTN_ENST00000437017.1_Missense_Mutation_p.R318P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	318					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTGGCCTGTGCGCCCAACCAC	0.537																																																	0													59	61	60					18																	67860578		1948	4146	6094	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.953G>C	18.37:g.67860578C>G	ENSP00000255674:p.Arg318Pro		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R318P	ENST00000255674.6	37	c.953	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047252	0.36085	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66995	0.5;0.35;-0.24	5.34	4.28	0.50868	Armadillo-type fold (1);	0.077911	0.52532	D	0.000073	T	0.77928	0.4204	L	0.59436	1.845	0.41237	D	0.986615	D;D	0.89917	0.999;1.0	D;D	0.72625	0.955;0.978	T	0.80511	-0.1350	10	0.72032	D	0.01	.	14.902	0.70687	0.0:0.9192:0.0:0.0808	.	318;318	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	P	318	ENSP00000255674:R318P;ENSP00000402352:R318P;ENSP00000399520:R318P	ENSP00000255674:R318P	R	-	2	0	RTTN	66011558	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.856000	0.55964	2.501000	0.84356	0.591000	0.81541	CGC	RTTN	-	superfamily_ARM-type_fold		0.537	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	C	NM_173630		67860578	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67860578	C	G	67860578	3	3	74	1	0	0	0	0	1	0	0	0	13767	768	27	2	5895	2	RTTN	18	67860578	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3688336	67860578	10216670	888	11583										
NFATC1	4772	genome.wustl.edu	37	chr18	77170429	77170429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atggctatgcatcctccaacGtcagccccgccctgccgctc	8	19	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:77170429G>A	ENST00000427363.2	+	2	154	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	NFATC1_ENST00000592223.1_Missense_Mutation_p.V39I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V52I|NFATC1_ENST00000587635.1_Missense_Mutation_p.V52I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.V39I|NFATC1_ENST00000542384.1_Missense_Mutation_p.V52I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.V39I|NFATC1_ENST00000253506.5_Missense_Mutation_p.V52I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V39I			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	52					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	ATCCTCCAACGTCAGCCCCGC	0.622																																					GBM(151;1210 2593 28719 45011)												0													71	82	79					18																	77170429		2203	4300	6503	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.154G>A	18.37:g.77170429G>A	ENSP00000389377:p.Val52Ile		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.V52I	ENST00000427363.2	37	c.154		18	.	.	.	.	.	.	.	.	.	.	G	4.668	0.124106	0.08931	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.42513	0.97;0.97;0.97	4.39	-8.77	0.00827	.	1.595400	0.03526	N	0.221701	T	0.14527	0.0351	N	0.02539	-0.55	0.09310	N	0.999998	B;B;B;B;B;B;B	0.19583	0.005;0.011;0.005;0.037;0.037;0.037;0.011	B;B;B;B;B;B;B	0.08055	0.002;0.002;0.003;0.003;0.003;0.002;0.003	T	0.21655	-1.0239	10	0.31617	T	0.26	-6.78	4.3777	0.11279	0.1236:0.3999:0.3171:0.1594	.	39;39;52;52;52;39;52	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	I	52;52;52;39;39;16	ENSP00000253506:V52I;ENSP00000442435:V52I;ENSP00000327850:V39I	ENSP00000253506:V52I	V	+	1	0	NFATC1	75271417	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-3.556000	0.00142	-0.367000	0.07326	GTC	NFATC1	-	NULL		0.622	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77170429	1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	0.000	A	A	77170429	G	A	77170429	3	1	74	1	0	0	0	0	1	0	0	0	10385	1145	40	2	252	2	NFATC1	18	77170429	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	9309851	77170429	906819	889	11584										
SHC2	25759	genome.wustl.edu	37	chr19	422217	422217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccggtgaggacatactgccCggggttggtgacgctgtctc	16	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:422217C>T	ENST00000264554.6	-	11	1548	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACTGCCCGGGGTTGGTG	0.677																																																	0													23	28	26					19																	422217		2195	4297	6492	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1549G>A	19.37:g.422217C>T	ENSP00000264554:p.Gly517Arg		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.G517R	ENST00000264554.6	37	c.1549	CCDS45891.1	19	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675972	0.67928	.	.	ENSG00000129946	ENST00000264554	D	0.94613	-3.47	4.76	3.72	0.42706	SH2 motif (5);	0.050289	0.85682	N	0.000000	D	0.97464	0.9170	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98019	1.0370	10	0.87932	D	0	-38.5681	12.7027	0.57043	0.0:0.9169:0.0:0.0831	.	517	P98077	SHC2_HUMAN	R	517	ENSP00000264554:G517R	ENSP00000264554:G517R	G	-	1	0	SHC2	373217	1.000000	0.71417	0.996000	0.52242	0.464000	0.32679	5.523000	0.67099	1.334000	0.45468	-0.119000	0.15052	GGG	SHC2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	C			422217	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	422217	C	T	422217	3	4	74	1	0	0	0	0	1	0	0	0	14301	652	23	2	207	2	SHC2	19	422217	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		422217	58706766	890	11585										
SHC2	25759	genome.wustl.edu	37	chr19	438806	438806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaagcgaaggttgctcttgCccaggacggacgccagggcc	14	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:438806C>T	ENST00000264554.6	-	4	631	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	211	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCTCTTGCCCAGGACGGA	0.687																																																	0													39	45	43					19																	438806		2096	4189	6285	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.632G>A	19.37:g.438806C>T	ENSP00000264554:p.Gly211Asp		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.G211D	ENST00000264554.6	37	c.632	CCDS45891.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712685	0.89112	.	.	ENSG00000129946	ENST00000264554	T	0.13089	2.62	3.67	3.67	0.42095	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.60455	1.87	0.80722	D	1	D	0.54772	0.968	P	0.62740	0.906	T	0.02893	-1.1097	10	0.39692	T	0.17	-42.7234	15.2455	0.73504	0.0:1.0:0.0:0.0	.	211	P98077	SHC2_HUMAN	D	211	ENSP00000264554:G211D	ENSP00000264554:G211D	G	-	2	0	SHC2	389806	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.215000	0.77966	2.006000	0.58801	0.491000	0.48974	GGC	SHC2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	C			438806	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	438806	C	T	438806	3	4	74	1	0	0	0	0	1	0	0	0	14301	739	26	4	1152	4	SHC2	19	438806	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	16589	438806	58690177	891	11586										
RNF126	55658	genome.wustl.edu	37	chr19	648250	648250	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgtgttctgtcccgtgaggcTttttcggcagacggggcagc	15	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:648250T>A	ENST00000292363.5	-	9	969	c.814A>T	c.(814-816)Agc>Tgc	p.S272C		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGTGAGGCTTTTTCGGCAG	0.677																																																	0													67	56	60					19																	648250		2190	4292	6482	SO:0001583	missense	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.814A>T	19.37:g.648250T>A	ENSP00000292363:p.Ser272Cys			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S272C	ENST00000292363.5	37	c.814	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	N	23.7	4.445429	0.84101	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.69040	-0.37	4.05	4.05	0.47172	.	0.097602	0.64402	D	0.000001	T	0.80571	0.4648	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83052	-0.0152	10	0.72032	D	0.01	.	12.4797	0.55836	0.0:0.0:0.0:1.0	.	272;124	Q9BV68-2;Q9NPN4	.;.	C	272	ENSP00000292363:S272C	ENSP00000292363:S272C	S	-	1	0	RNF126	599250	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	6.109000	0.71528	1.601000	0.50113	0.363000	0.22086	AGC	RNF126	-	NULL		0.677	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	T	NM_017876		648250	-1	no_errors	ENST00000292363	ensembl	human	known	70_37	missense	SNP	1.000	A	A	648250	T	A	648250	3	1	74	1	0	0	0	0	1	0	0	0	13465	1609	56	5	125	5	RNF126	19	648250	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	209444	648250	58480733	892	11587										
C19orf21	126353	genome.wustl.edu	37	chr19	757449	757449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccagggcactcctgaccacgGagaccccaggacccccggcc	11	20	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:757449G>T	ENST00000215582.6	+	2	606	c.503G>T	c.(502-504)gGa>gTa	p.G168V		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	168					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCTGACCACGGAGACCCCAGG	0.672																																																	0													20	23	22					19																	757449		2186	4290	6476	SO:0001583	missense	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.503G>T	19.37:g.757449G>T	ENSP00000215582:p.Gly168Val			Missense_Mutation	SNP	NULL	p.G168V	ENST00000215582.6	37	c.503	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	G	3.239	-0.155697	0.06544	.	.	ENSG00000099812	ENST00000215582	T	0.66099	-0.19	4.4	0.777	0.18538	.	2.951330	0.01291	N	0.010038	T	0.49389	0.1554	L	0.40543	1.245	0.09310	N	0.999999	B	0.12013	0.005	B	0.14023	0.01	T	0.09058	-1.0692	10	0.26408	T	0.33	-7.1304	0.5112	0.00596	0.2225:0.1401:0.2943:0.3431	.	168	Q8IVT2	CS021_HUMAN	V	168	ENSP00000215582:G168V	ENSP00000215582:G168V	G	+	2	0	C19orf21	708449	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.394000	0.02518	0.013000	0.14918	0.313000	0.20887	GGA	C19orf21	-	NULL		0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf21	HGNC	protein_coding	OTTHUMT00000457600.2	G	NM_173481		757449	1	no_errors	ENST00000215582	ensembl	human	known	70_37	missense	SNP	0.002	T	T	757449	G	T	757449	3	4	74	1	0	0	0	0	1	0	0	0	1918	1174	41	3	505	3	C19orf21	19	757449	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	109199	757449	58371534	893	11588										
C19orf6	91304	genome.wustl.edu	37	chr19	1014419	1014419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgctccaggcagttgatgggCgagcgggagaagacgatgtg	18	7	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1014419C>T	ENST00000356663.3	-	2	400	c.279G>A	c.(277-279)tcG>tcA	p.S93S	TMEM259_ENST00000333175.5_Silent_p.S93S	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	93						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AGTTGATGGGCGAGCGGGAGA	0.667																																																	0													33	32	32					19																	1014419		2202	4298	6500	SO:0001819	synonymous_variant	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.279G>A	19.37:g.1014419C>T			O60392|Q8NF79|Q96H30	Silent	SNP	pfam_Membralin	p.S93	ENST00000356663.3	37	c.279	CCDS32862.1	19																																																																																			C19orf6	-	pfam_Membralin		0.667	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf6	HGNC	protein_coding	OTTHUMT00000458236.1	C	NM_033420		1014419	-1	no_errors	ENST00000356663	ensembl	human	known	70_37	silent	SNP	0.005	T	T	1014419	C	T	1014419	2	4	74	1	0	0	0	0	0	0	0	1	1946	755	27	2		2	C19orf6	19	1014419	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	256970	1014419	58114564	894	11589										
SBNO2	22904	genome.wustl.edu	37	chr19	1116100	1116100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaattagcgacaggaacacgCctctgaaagtgagacgcgga	13	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1116100C>A	ENST00000361757.3	-	17	2042	c.1805G>T	c.(1804-1806)gGc>gTc	p.G602V	SBNO2_ENST00000438103.2_Missense_Mutation_p.G545V|SBNO2_ENST00000587024.1_Missense_Mutation_p.G592V	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	602					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAACACGCCTCTGAAAGT	0.612																																																	0													66	68	68					19																	1116100		1985	4154	6139	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1805G>T	19.37:g.1116100C>A	ENSP00000354733:p.Gly602Val		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.G602V	ENST00000361757.3	37	c.1805	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836695	0.32421	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.65975	2.015	0.80722	D	1	B;D;D	0.89917	0.427;1.0;1.0	B;D;D	0.81914	0.254;0.989;0.995	T	0.71038	-0.4708	9	0.17369	T	0.5	-34.6112	14.7492	0.69513	0.0:1.0:0.0:0.0	.	602;602;545	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	V	602;545;626	.	ENSP00000250872:G626V	G	-	2	0	SBNO2	1067100	1.000000	0.71417	0.993000	0.49108	0.300000	0.27592	6.926000	0.75835	1.937000	0.56155	0.462000	0.41574	GGC	SBNO2	-	NULL		0.612	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	C	NM_014963		1116100	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1116100	C	A	1116100	3	1	74	1	0	0	0	0	1	0	0	0	13893	739	26	4	2359	4	SBNO2	19	1116100	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	101681	1116100	58012883	895	11590										
ATP8B3	148229	genome.wustl.edu	37	chr19	1785261	1785261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgaggaggatggtcgccacGcacagggcggtccagtactt	15	11	0	1	rs372841402		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1785261G>A	ENST00000310127.6	-	27	3667	c.3429C>T	c.(3427-3429)tgC>tgT	p.C1143C	ATP8B3_ENST00000539485.1_Silent_p.C1153C|ATP8B3_ENST00000525591.1_Silent_p.C1106C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1143					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCGCCACGCACAGGGCGG	0.597																																																	0													44	54	51					19																	1785261		2194	4297	6491	SO:0001819	synonymous_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3429C>T	19.37:g.1785261G>A			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.C1153	ENST00000310127.6	37	c.3459	CCDS45901.1	19																																																																																			ATP8B3	-	NULL		0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	G	NM_138813		1785261	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1785261	G	A	1785261	2	1	74	1	0	0	0	0	0	0	0	1	1197	1079	38	2		2	ATP8B3	19	1785261	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	669161	1785261	57343722	896	11591										
ATP8B3	148229	genome.wustl.edu	37	chr19	1787158	1787158	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgtacaggaggttgaaaaGagccaggaaccatccttcat	11	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1787158G>T	ENST00000310127.6	-	25	3335	c.3097C>A	c.(3097-3099)Ctt>Att	p.L1033I	ATP8B3_ENST00000539485.1_Missense_Mutation_p.L1043I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.L996I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1033					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTGAAAAGAGCCAGGAAC	0.592																																																	0													55	60	58					19																	1787158		1922	4131	6053	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3097C>A	19.37:g.1787158G>T	ENSP00000311336:p.Leu1033Ile		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L1043I	ENST00000310127.6	37	c.3127	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285294	0.40394	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.89415	-2.51;-2.51;-2.51	4.25	0.846	0.18955	.	0.078047	0.52532	D	0.000065	D	0.85652	0.5746	M	0.66560	2.04	0.30457	N	0.774712	P;P	0.45348	0.856;0.748	B;B	0.41374	0.251;0.355	T	0.82444	-0.0454	10	0.72032	D	0.01	.	8.9737	0.35921	0.2392:0.0:0.7608:0.0	.	1033;996	O60423;Q7Z485	AT8B3_HUMAN;.	I	1033;1043;996	ENSP00000311336:L1033I;ENSP00000443574:L1043I;ENSP00000437115:L996I	ENSP00000311336:L1033I	L	-	1	0	ATP8B3	1738158	0.488000	0.25996	0.103000	0.21229	0.314000	0.28054	0.721000	0.25911	0.047000	0.15862	0.561000	0.74099	CTT	ATP8B3	-	NULL		0.592	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	G	NM_138813		1787158	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	missense	SNP	0.899	T	T	1787158	G	T	1787158	3	4	74	1	0	0	0	0	1	0	0	0	1197	942	33	3	825	3	ATP8B3	19	1787158	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1897	1787158	57341825	897	11592										
REXO1	57455	genome.wustl.edu	37	chr19	1819021	1819021	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggggcagggccttacctttCaggtcctccacccgggggct	14	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1819021C>T	ENST00000170168.4	-	8	2854	c.2760G>A	c.(2758-2760)ctG>ctA	p.L920L	MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	920						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTACCTTTCAGGTCCTCCA	0.701																																																	0													35	35	35					19																	1819021		2203	4300	6503	SO:0001819	synonymous_variant	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2760G>A	19.37:g.1819021C>T			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L920	ENST00000170168.4	37	c.2760	CCDS32866.1	19																																																																																			REXO1	-	NULL		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	C	NM_020695		1819021	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	silent	SNP	0.880	T	T	1819021	C	T	1819021	2	4	74	1	0	0	0	0	0	0	0	1	13271	813	29	1		1	REXO1	19	1819021	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	31863	1819021	57309962	898	11593										
THOP1	7064	genome.wustl.edu	37	chr19	2810715	2810715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agacggacgcagaccccgccGaggagtatgcgcggctctgc	15	14	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:2810715G>A	ENST00000307741.6	+	11	1923	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	THOP1_ENST00000586677.1_Missense_Mutation_p.E453K|THOP1_ENST00000395212.4_Missense_Mutation_p.E85K	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	574					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCCCGCCGAGGAGTATGC	0.682																																																	0													22	19	20					19																	2810715		2184	4287	6471	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1720G>A	19.37:g.2810715G>A	ENSP00000304467:p.Glu574Lys		B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E574K	ENST00000307741.6	37	c.1720	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	7.469	0.646291	0.14451	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.12465	3.05;2.68	3.97	1.42	0.22433	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.397332	0.26304	N	0.025143	T	0.08179	0.0204	N	0.16233	0.39	0.30863	N	0.733299	B;B;B	0.23128	0.001;0.08;0.001	B;B;B	0.24269	0.003;0.052;0.002	T	0.09773	-1.0659	10	0.59425	D	0.04	-18.5281	8.7569	0.34650	0.1026:0.254:0.6434:0.0	.	453;85;574	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	K	574;85	ENSP00000304467:E574K;ENSP00000378638:E85K	ENSP00000304467:E574K	E	+	1	0	THOP1	2761715	1.000000	0.71417	0.026000	0.17262	0.211000	0.24417	4.095000	0.57728	0.649000	0.30751	0.555000	0.69702	GAG	THOP1	-	pfam_Pept_M3A_M3B		0.682	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2810715	1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	0.318	A	A	2810715	G	A	2810715	3	1	74	1	0	0	0	0	1	0	0	0	15901	1059	37	1	1762	1	THOP1	19	2810715	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	991694	2810715	56318268	899	11594										
ZFR2	23217	genome.wustl.edu	37	chr19	3823381	3823381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccactggggtctgcagcctgCtgcctgtggctcaggaggcc	15	14	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3823381C>A	ENST00000262961.4	-	8	1244	c.1234G>T	c.(1234-1236)Gca>Tca	p.A412S		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	412							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CTGCAGCCTGCTGCCTGTGGC	0.617																																																	0													37	40	39					19																	3823381		1861	4103	5964	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1234G>T	19.37:g.3823381C>A	ENSP00000262961:p.Ala412Ser			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A412S	ENST00000262961.4	37	c.1234	CCDS45921.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857965|1.857965	0.32791|0.32791	.|.	.|.	ENSG00000105278|ENSG00000105278	ENST00000262961|ENST00000438164	T|T	0.07216|0.14516	3.21|2.5	3.4|3.4	1.13|1.13	0.20643|0.20643	.|.	0.885835|.	0.09407|.	U|.	0.806316|.	T|T	0.14098|0.14098	0.0341|0.0341	L|L	0.41710|0.41710	1.295|1.295	0.09310|0.09310	N|N	1|1	B|.	0.29590|.	0.25|.	B|.	0.29942|.	0.109|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|7	0.34782|0.87932	T|D	0.22|0	2.0E-4|2.0E-4	5.8517|5.8517	0.18696|0.18696	0.0:0.7406:0.0:0.2594|0.0:0.7406:0.0:0.2594	.|.	412|.	Q9UPR6|.	ZFR2_HUMAN|.	S|H	412|352	ENSP00000262961:A412S|ENSP00000388974:Q352H	ENSP00000262961:A412S|ENSP00000388974:Q352H	A|Q	-|-	1|3	0|2	ZFR2|ZFR2	3774381|3774381	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.133000|0.133000	0.15912|0.15912	0.157000|0.157000	0.19338|0.19338	0.561000|0.561000	0.74099|0.74099	GCA|CAG	ZFR2	-	NULL		0.617	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3823381	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	missense	SNP	0.000	A	A	3823381	C	A	3823381	3	1	74	1	0	0	0	0	1	0	0	0	17690	797	28	4	1633	4	ZFR2	19	3823381	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1012666	3823381	55305602	900	11595										
ZFR2	23217	genome.wustl.edu	37	chr19	3825390	3825390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aatgggcttccccagtttggCgtgcagcttgaagacctgca	12	11	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3825390C>T	ENST00000262961.4	-	7	1061	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	351							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCCAGTTTGGCGTGCAGCTTG	0.682																																																	0													12	16	15					19																	3825390		1965	4140	6105	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1051G>A	19.37:g.3825390C>T	ENSP00000262961:p.Ala351Thr			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A351T	ENST00000262961.4	37	c.1051	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.542724	0.00142	.	.	ENSG00000105278	ENST00000262961	T	0.04603	3.59	2.83	-2.19	0.07015	.	0.165132	0.38548	N	0.001652	T	0.00666	0.0022	N	0.00032	-2.585	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49634	-0.8919	10	0.02654	T	1	-16.1448	8.2017	0.31428	0.0:0.3276:0.0:0.6724	.	351	Q9UPR6	ZFR2_HUMAN	T	351	ENSP00000262961:A351T	ENSP00000262961:A351T	A	-	1	0	ZFR2	3776390	1.000000	0.71417	0.089000	0.20774	0.012000	0.07955	1.976000	0.40579	-0.832000	0.04251	-2.871000	0.00099	GCC	ZFR2	-	NULL		0.682	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3825390	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3825390	C	T	3825390	3	4	74	1	0	0	0	0	1	0	0	0	17690	768	27	2	1820	2	ZFR2	19	3825390	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2009	3825390	55303593	901	11596										
ATCAY	85300	genome.wustl.edu	37	chr19	3909586	3909586	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgcctggaatcggctggctGaagaagtgctaccagatgat	13	8	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3909586G>A	ENST00000450849.2	+	7	1217	c.750G>A	c.(748-750)ctG>ctA	p.L250L	ATCAY_ENST00000301260.6_Silent_p.L250L|ATCAY_ENST00000600960.1_Silent_p.L250L|ATCAY_ENST00000398448.3_Silent_p.L256L	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	250	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGGCTGGCTGAAGAAGTGCT	0.597																																																	0													37	41	40					19																	3909586		2115	4232	6347	SO:0001819	synonymous_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.750G>A	19.37:g.3909586G>A			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L250	ENST00000450849.2	37	c.750	CCDS45923.1	19																																																																																			ATCAY	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.597	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	G			3909586	1	no_errors	ENST00000301260	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3909586	G	A	3909586	2	1	74	1	0	0	0	0	0	0	0	1	1078	1277	45	1		1	ATCAY	19	3909586	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	84196	3909586	55219397	902	11597										
DAPK3	1613	genome.wustl.edu	37	chr19	3964273	3964273	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggtgccgaagatgttcttGaactcgttccccgcctcgat	12	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3964273G>C	ENST00000545797.2	-	4	765	c.522C>G	c.(520-522)ttC>ttG	p.F174L	DAPK3_ENST00000301264.3_Missense_Mutation_p.F174L|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	174	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTTCTTGAACTCGTTCC	0.632																																																	0													164	111	129					19																	3964273		2203	4300	6503	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.522C>G	19.37:g.3964273G>C	ENSP00000442973:p.Phe174Leu		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.F174L	ENST00000545797.2	37	c.522	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043915	0.55110	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.63096	-0.02;-0.02	5.48	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	N	0.02315	-0.6	0.50813	D	0.999899	B	0.20988	0.05	B	0.25405	0.06	T	0.18777	-1.0326	10	0.09843	T	0.71	.	13.3139	0.60397	0.0763:0.0:0.9237:0.0	.	174	O43293	DAPK3_HUMAN	L	174;174;29	ENSP00000301264:F174L;ENSP00000442973:F174L	ENSP00000301264:F174L	F	-	3	2	DAPK3	3915273	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.637000	0.54324	1.323000	0.45263	0.555000	0.69702	TTC	DAPK3	-	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		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964273	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3964273	G	C	3964273	3	2	74	1	0	0	0	0	1	0	0	0	4242	1281	45	1	866	1	DAPK3	19	3964273	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	54687	3964273	55164710	903	11598										
CREB3L3	84699	genome.wustl.edu	37	chr19	4168383	4168383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgaaaaaaatccgccggaaAatccggaacaagcagtcggc	10	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4168383A>C	ENST00000078445.2	+	6	897	c.750A>C	c.(748-750)aaA>aaC	p.K250N	CREB3L3_ENST00000252587.3_Missense_Mutation_p.K190N|CREB3L3_ENST00000595923.1_Missense_Mutation_p.K249N|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.K248N	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	250	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCCGGAAAATCCGGAACA	0.547																																																	0													66	59	61					19																	4168383		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.750A>C	19.37:g.4168383A>C	ENSP00000078445:p.Lys250Asn		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.K250N	ENST00000078445.2	37	c.750	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555861	0.65425	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.59502	0.26;0.26	5.06	2.94	0.34122	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.052514	0.85682	D	0.000000	T	0.80954	0.4723	H	0.96691	3.865	0.50467	D	0.999874	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80320	-0.1432	10	0.66056	D	0.02	-6.8301	7.7917	0.29125	0.7373:0.0:0.2627:0.0	.	248;249;250	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	N	250;250;190	ENSP00000078445:K250N;ENSP00000252587:K190N	ENSP00000078445:K250N	K	+	3	2	CREB3L3	4119383	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	2.225000	0.42954	0.351000	0.24027	-0.290000	0.09829	AAA	CREB3L3	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.547	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	A	NM_032607		4168383	1	no_errors	ENST00000078445	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4168383	A	C	4168383	3	2	74	1	0	0	0	0	1	0	0	0	3863	11	1	5	772	5	CREB3L3	19	4168383	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	204110	4168383	54960600	904	11599										
CCDC94	55702	genome.wustl.edu	37	chr19	4262097	4262097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccttcggcccaaccccaccGccatcctggatgaggtaagt	9	17	0	1	rs373312593		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4262097G>A	ENST00000262962.7	+	6	762	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	232										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CAACCCCACCGCCATCCTGGA	0.597																																																	0													41	40	40					19																	4262097		2203	4300	6503	SO:0001583	missense	55702			AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.694G>A	19.37:g.4262097G>A	ENSP00000262962:p.Ala232Thr		O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	pfam_CWC16	p.A232T	ENST00000262962.7	37	c.694	CCDS12124.1	19	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603747	0.28534	.	.	ENSG00000105248	ENST00000262962	T	0.32023	1.47	4.69	2.58	0.30949	.	0.229124	0.42172	D	0.000751	T	0.22742	0.0549	L	0.48362	1.52	0.28616	N	0.908394	P	0.49090	0.919	B	0.41917	0.37	T	0.11941	-1.0567	10	0.13470	T	0.59	-26.5109	8.6465	0.34009	0.1867:0.0:0.8133:0.0	.	232	Q9BW85	CCD94_HUMAN	T	232	ENSP00000262962:A232T	ENSP00000262962:A232T	A	+	1	0	CCDC94	4213097	1.000000	0.71417	0.656000	0.29637	0.422000	0.31414	3.581000	0.53914	0.622000	0.30249	0.472000	0.43445	GCC	CCDC94	-	pfam_CWC16		0.597	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC94	HGNC	protein_coding	OTTHUMT00000458007.2	G	NM_018074		4262097	1	no_errors	ENST00000262962	ensembl	human	known	70_37	missense	SNP	0.864	A	A	4262097	G	A	4262097	3	1	74	1	0	0	0	0	1	0	0	0	2878	1087	38	2	716	2	CCDC94	19	4262097	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	93714	4262097	54866886	905	11600										
PLIN4	729359	genome.wustl.edu	37	chr19	4508870	4508870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accgcgtgttcaaatgcccgCtggcggaagctgggacccag	14	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4508870C>T	ENST00000301286.3	-	4	3569	c.3570G>A	c.(3568-3570)caG>caA	p.Q1190Q		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1190						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAAATGCCCGCTGGCGGAAGC	0.632																																																	0													35	45	42					19																	4508870		2055	4185	6240	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3570G>A	19.37:g.4508870C>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.Q1190	ENST00000301286.3	37	c.3570	CCDS45927.1	19																																																																																			PLIN4	-	pfam_Perilipin		0.632	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4508870	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	1.000	T	T	4508870	C	T	4508870	2	4	74	1	0	0	0	0	0	0	0	1	12116	796	28	4		4	PLIN4	19	4508870	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	246773	4508870	54620113	906	11601										
SEMA6B	10501	genome.wustl.edu	37	chr19	4548371	4548371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggacgaggaacttgaggaccGtccccgcctcagaacccagg	13	14	1	2	rs186951396		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4548371G>A	ENST00000586582.1	-	13	1668	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.T453M|SEMA6B_ENST00000586965.1_Missense_Mutation_p.T453M	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGGACCGTCCCCGCCTC	0.652																																																	0													54	54	54					19																	4548371		2203	4300	6503	SO:0001583	missense	10501			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1358C>T	19.37:g.4548371G>A	ENSP00000467290:p.Thr453Met		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.T453M	ENST00000586582.1	37	c.1358	CCDS12131.1	19	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884162	0.51908	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12361	2.69	4.01	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.154312	0.56097	D	0.000024	T	0.36880	0.0983	M	0.77406	2.37	0.39352	D	0.965771	P;D	0.76494	0.892;0.999	P;D	0.70935	0.487;0.971	T	0.34925	-0.9809	10	0.49607	T	0.09	.	14.9113	0.70758	0.0:0.0:1.0:0.0	.	453;453	B4DT36;Q9H3T3	.;SEM6B_HUMAN	M	453	ENSP00000301293:T453M	ENSP00000301292:T453M	T	-	2	0	SEMA6B	4499371	1.000000	0.71417	0.830000	0.32933	0.483000	0.33249	3.617000	0.54181	2.086000	0.62901	0.485000	0.47835	ACG	SEMA6B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2	G	NM_032108		4548371	-1	no_errors	ENST00000301293	ensembl	human	known	70_37	missense	SNP	0.998	A	A	4548371	G	A	4548371	3	1	74	1	0	0	0	0	1	0	0	0	14070	1145	40	2	1328	2	SEMA6B	19	4548371	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	39501	4548371	54580612	907	11602										
ZNRF4	148066	genome.wustl.edu	37	chr19	5456111	5456111	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acccacgtctacgaggacttGaggggccagatcgccatccc	11	15	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5456111G>A	ENST00000222033.4	+	1	686	c.609G>A	c.(607-609)ttG>ttA	p.L203L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	203	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACGAGGACTTGAGGGGCCAGA	0.667																																																	0													76	76	76					19																	5456111		2164	4262	6426	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.609G>A	19.37:g.5456111G>A			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L203	ENST00000222033.4	37	c.609	CCDS42475.1	19																																																																																			ZNRF4	-	pfam_Protease-assoc_domain		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	G	NM_181710		5456111	1	no_errors	ENST00000222033	ensembl	human	known	70_37	silent	SNP	0.001	A	A	5456111	G	A	5456111	2	1	74	1	0	0	0	0	0	0	0	1	18244	1281	45	1		1	ZNRF4	19	5456111	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	907740	5456111	53672872	908	11603										
ZNRF4	148066	genome.wustl.edu	37	chr19	5456482	5456482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaactcaagatcctgccctGctcccacacctaccactgca	4	20	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5456482G>A	ENST00000222033.4	+	1	1057	c.980G>A	c.(979-981)tGc>tAc	p.C327Y		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	327						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCCTGCCCTGCTCCCACACC	0.622																																																	0													112	129	124					19																	5456482		2126	4223	6349	SO:0001583	missense	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.980G>A	19.37:g.5456482G>A	ENSP00000222033:p.Cys327Tyr		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C327Y	ENST00000222033.4	37	c.980	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033516	0.54896	.	.	ENSG00000105428	ENST00000222033	D	0.99741	-6.6	4.64	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.142496	0.51477	U	0.000086	D	0.99813	0.9918	H	0.96889	3.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96772	0.9569	10	0.87932	D	0	-21.5244	14.2141	0.65781	0.0:0.0:1.0:0.0	.	327	Q8WWF5	ZNRF4_HUMAN	Y	327	ENSP00000222033:C327Y	ENSP00000222033:C327Y	C	+	2	0	ZNRF4	5407482	1.000000	0.71417	0.987000	0.45799	0.342000	0.28953	5.247000	0.65416	2.120000	0.65058	0.561000	0.74099	TGC	ZNRF4	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.622	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	G	NM_181710		5456482	1	no_errors	ENST00000222033	ensembl	human	known	70_37	missense	SNP	0.993	A	A	5456482	G	A	5456482	3	1	74	1	0	0	0	0	1	0	0	0	18244	1319	46	4	982	4	ZNRF4	19	5456482	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	371	5456482	53672501	909	11604										
SAFB2	9667	genome.wustl.edu	37	chr19	5622699	5622699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agccgtgccagggcccgagtCgcccgacccgggcagagtct	15	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5622699C>A	ENST00000252542.4	-	1	292	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000433404.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGGCCCGAGTCGCCCGACCCG	0.682																																					Ovarian(127;888 1728 23957 44128 52668)												0													8	10	10					19																	5622699		2140	4220	6360	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.28G>T	19.37:g.5622699C>A	ENSP00000252542:p.Asp10Tyr		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.D10Y	ENST00000252542.4	37	c.28	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.296021	0.95574	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.13657	2.57	3.88	3.88	0.44766	.	0.562091	0.14722	N	0.302282	T	0.35828	0.0945	M	0.70595	2.14	0.38963	D	0.958585	D;D	0.71674	0.975;0.998	P;D	0.65573	0.706;0.936	T	0.34675	-0.9819	10	0.87932	D	0	-15.9466	15.3692	0.74548	0.0:1.0:0.0:0.0	.	10;10	A0PJ47;Q14151	.;SAFB2_HUMAN	Y	10	ENSP00000252542:D10Y	ENSP00000252542:D10Y	D	-	1	0	SAFB2	5573699	0.743000	0.28239	0.160000	0.22671	0.791000	0.44710	4.303000	0.59098	2.163000	0.67991	0.561000	0.74099	GAC	SAFB2	-	NULL		0.682	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1	C	NM_014649		5622699	-1	no_errors	ENST00000252542	ensembl	human	known	70_37	missense	SNP	0.936	A	A	5622699	C	A	5622699	3	1	74	1	0	0	0	0	1	0	0	0	13837	884	31	3	2917	3	SAFB2	19	5622699	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	166217	5622699	53506284	910	11605										
SAFB	6294	genome.wustl.edu	37	chr19	5654185	5654185	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgatcagaaacctggcccctCagagcgatctcgagccacaa	9	14	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5654185C>T	ENST00000292123.5	+	12	1747	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	SAFB_ENST00000538656.1_Missense_Mutation_p.S390L|SAFB_ENST00000592224.1_Missense_Mutation_p.S547L|SAFB_ENST00000454510.1_Missense_Mutation_p.S478L|SAFB_ENST00000588852.1_Missense_Mutation_p.S547L|SAFB_ENST00000433404.1_Missense_Mutation_p.S377L	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	547	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCTGGCCCCTCAGAGCGATCT	0.473																																					Colon(88;338 1345 6184 8214 20897)												0													84	78	80					19																	5654185		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1640C>T	19.37:g.5654185C>T	ENSP00000292123:p.Ser547Leu		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.S547L	ENST00000292123.5	37	c.1640	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316682	0.60524	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12361	2.73;2.91;2.72;2.69	5.34	5.34	0.76211	.	0.135280	0.34002	N	0.004341	T	0.24509	0.0594	L	0.47716	1.5	0.41370	D	0.987483	P;P;P;B;P;B;P	0.52316	0.799;0.885;0.952;0.264;0.454;0.264;0.454	B;P;P;B;B;B;B	0.51055	0.323;0.621;0.657;0.186;0.186;0.186;0.186	T	0.00453	-1.1730	10	0.72032	D	0.01	-3.1271	19.0052	0.92848	0.0:1.0:0.0:0.0	.	346;390;478;547;547;547;547	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	L	478;442;377;547;390	ENSP00000415895:S478L;ENSP00000404545:S377L;ENSP00000292123:S547L;ENSP00000438880:S390L	ENSP00000292123:S547L	S	+	2	0	SAFB	5605185	0.868000	0.29978	0.513000	0.27749	0.939000	0.58152	3.536000	0.53582	2.654000	0.90174	0.563000	0.77884	TCA	SAFB	-	NULL		0.473	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	C			5654185	1	no_errors	ENST00000588852	ensembl	human	known	70_37	missense	SNP	0.674	T	T	5654185	C	T	5654185	3	4	74	1	0	0	0	0	1	0	0	0	13836	838	29	1	1686	1	SAFB	19	5654185	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	31486	5654185	53474798	911	11606										
PRR22	163154	genome.wustl.edu	37	chr19	5783426	5783426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaccttgtcaggcagtgccaAagctctggccgtcttggggg	14	11	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5783426A>C	ENST00000419421.2	-	3	936	c.832T>G	c.(832-834)Ttg>Gtg	p.L278V		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	278										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGCAGTGCCAAAGCTCTGGCC	0.667																																																	0													20	24	23					19																	5783426		2195	4291	6486	SO:0001583	missense	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.832T>G	19.37:g.5783426A>C	ENSP00000407653:p.Leu278Val		E9PB31	Missense_Mutation	SNP	NULL	p.L278V	ENST00000419421.2	37	c.832	CCDS45933.1	19	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220261	0.39201	.	.	ENSG00000212123	ENST00000419421	T	0.51817	0.69	3.74	0.216	0.15258	.	.	.	.	.	T	0.22360	0.0539	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.003;0.009	B;B	0.16289	0.009;0.015	T	0.16041	-1.0416	9	0.33940	T	0.23	-1.3036	3.2192	0.06710	0.5394:0.2153:0.2453:0.0	.	278;276	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	278	ENSP00000407653:L278V	ENSP00000407653:L278V	L	-	1	2	PRR22	5734426	0.001000	0.12720	0.000000	0.03702	0.173000	0.22820	0.649000	0.24843	-0.145000	0.11294	0.172000	0.16884	TTG	PRR22	-	NULL		0.667	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	HGNC	protein_coding	OTTHUMT00000368523.1	A	NM_153359		5783426	-1	no_errors	ENST00000419421	ensembl	human	known	70_37	missense	SNP	0.001	C	C	5783426	A	C	5783426	3	2	74	1	0	0	0	0	1	0	0	0	12620	11	1	5	440	5	PRR22	19	5783426	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	129241	5783426	53345557	912	11607										
TUBB4	10382	genome.wustl.edu	37	chr19	6501390	6501390	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaggtccaccagcaccgctCtggggacataatttcctcct	8	16	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6501390C>T	ENST00000264071.2	-	3	556	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R62K|TUBB4A_ENST00000601152.1_Missense_Mutation_p.E37K|TUBB4A_ENST00000598006.1_Missense_Mutation_p.E48K|TUBB4A_ENST00000596926.1_Missense_Mutation_p.R62K			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	62					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CAGCACCGCTCTGGGGACATA	0.607																																																	0													46	45	45					19																	6501390		2203	4300	6503	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.185G>A	19.37:g.6501390C>T	ENSP00000264071:p.Arg62Lys		B3KQP4|Q969E5	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.R62K	ENST00000264071.2	37	c.185	CCDS12168.1	19	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579696	0.65992	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.80824	-1.42;-1.42	3.83	3.83	0.44106	.	0.000000	0.64402	D	0.000008	D	0.93835	0.8028	H	0.99286	4.5	0.44042	D	0.996773	D	0.67145	0.996	D	0.77004	0.989	D	0.96243	0.9177	10	0.87932	D	0	.	14.4849	0.67609	0.0:1.0:0.0:0.0	.	62	P04350	TBB4A_HUMAN	K	62	ENSP00000264071:R62K;ENSP00000443590:R62K	ENSP00000264071:R62K	R	-	2	0	TUBB4	6452390	0.984000	0.35163	0.950000	0.38849	0.709000	0.40893	7.607000	0.82883	1.694000	0.51137	0.313000	0.20887	AGA	TUBB4A	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.607	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	C	NM_006087		6501390	-1	no_errors	ENST00000264071	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6501390	C	T	6501390	3	4	74	1	0	0	0	0	1	0	0	0	16789	913	32	1	1157	1	TUBB4	19	6501390	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	717964	6501390	52627593	913	11608										
SH2D3A	10045	genome.wustl.edu	37	chr19	6760703	6760703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggtgtcctcgctaaagctgCgtcgcagaggcccctgccaa	13	14	0	1	rs372429785		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6760703C>T	ENST00000245908.6	-	3	634	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	122					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCTAAAGCTGCGTCGCAGAGG	0.617																																																	0													42	40	41					19																	6760703		2203	4300	6503	SO:0001583	missense	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.365G>A	19.37:g.6760703C>T	ENSP00000245908:p.Arg122His		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.R122H	ENST00000245908.6	37	c.365	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	C	8.760	0.923398	0.18056	.	.	ENSG00000125731	ENST00000245908	T	0.14391	2.51	4.97	1.68	0.24146	.	0.000000	0.42964	D	0.000625	T	0.10594	0.0259	L	0.60455	1.87	0.21105	N	0.999789	B	0.21225	0.053	B	0.12837	0.008	T	0.32824	-0.9892	10	0.17369	T	0.5	-14.3404	4.2819	0.10836	0.1808:0.6308:0.0:0.1884	.	122	Q9BRG2	SH23A_HUMAN	H	122	ENSP00000245908:R122H	ENSP00000245908:R122H	R	-	2	0	SH2D3A	6711703	0.654000	0.27367	0.433000	0.26760	0.049000	0.14656	0.177000	0.16801	0.292000	0.22492	-0.266000	0.10368	CGC	SH2D3A	-	NULL		0.617	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	C	NM_005490		6760703	-1	no_errors	ENST00000245908	ensembl	human	known	70_37	missense	SNP	0.249	T	T	6760703	C	T	6760703	3	4	74	1	0	0	0	0	1	0	0	0	14263	768	27	2	1397	2	SH2D3A	19	6760703	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	259313	6760703	52368280	914	11609										
EMR1	2015	genome.wustl.edu	37	chr19	6937311	6937311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgggctgctcctgggtgctGggcatttttcagattggacc	14	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6937311G>A	ENST00000312053.4	+	19	2476	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	EMR1_ENST00000450315.3_Silent_p.L636L|EMR1_ENST00000250572.8_Silent_p.L748L|EMR1_ENST00000381404.4_Silent_p.L794L|EMR1_ENST00000381407.5_Silent_p.L672L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	813					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTGGGTGCTGGGCATTTTTC	0.552																																																	0													145	135	139					19																	6937311		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2439G>A	19.37:g.6937311G>A			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L813	ENST00000312053.4	37	c.2439	CCDS12175.1	19																																																																																			EMR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.552	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	G			6937311	1	no_errors	ENST00000312053	ensembl	human	known	70_37	silent	SNP	0.955	A	A	6937311	G	A	6937311	2	1	74	1	0	0	0	0	0	0	0	1	5116	1335	47	4		4	EMR1	19	6937311	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	176608	6937311	52191672	915	11610										
ZNF358	140467	genome.wustl.edu	37	chr19	7584411	7584411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtcttcgagtttcgacctcGatccagatgtgattggcccc	10	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7584411G>A	ENST00000597229.1	+	2	453	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.D95N|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	95					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTTCGACCTCGATCCAGATGT	0.612																																																	0													101	87	92					19																	7584411		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.283G>A	19.37:g.7584411G>A	ENSP00000472305:p.Asp95Asn		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D95N	ENST00000597229.1	37	c.283	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676411	0.47886	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.06687	3.27	3.94	3.94	0.45596	.	.	.	.	.	T	0.07052	0.0179	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	P	0.44772	0.46	T	0.17868	-1.0355	9	0.08179	T	0.78	-8.5029	14.3287	0.66537	0.0:0.0:1.0:0.0	.	95	Q9NW07	ZN358_HUMAN	N	95	ENSP00000377873:D95N	ENSP00000354703:D95N	D	+	1	0	ZNF358	7490411	0.153000	0.22777	0.270000	0.24601	0.261000	0.26267	1.929000	0.40114	2.150000	0.67090	0.555000	0.69702	GAT	ZNF358	-	NULL		0.612	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	G			7584411	1	no_errors	ENST00000394341	ensembl	human	known	70_37	missense	SNP	0.022	A	A	7584411	G	A	7584411	3	1	74	1	0	0	0	0	1	0	0	0	17897	1058	37	1	285	1	ZNF358	19	7584411	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	647100	7584411	51544572	916	11611										
PNPLA6	10908	genome.wustl.edu	37	chr19	7619897	7619897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctaaatatgcgcagctggtGctcggggcacctgcacctgc	13	13	0	0	rs560373686		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7619897G>A	ENST00000221249.6	+	25	3070	c.2639G>A	c.(2638-2640)tGc>tAc	p.C880Y	PNPLA6_ENST00000450331.3_Missense_Mutation_p.C880Y|PNPLA6_ENST00000545201.2_Missense_Mutation_p.C853Y|PNPLA6_ENST00000600737.1_Missense_Mutation_p.C918Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.C928Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	919					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCAGCTGGTGCTCGGGGCAC	0.701																																																	0													12	13	13					19																	7619897		2199	4290	6489	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2639G>A	19.37:g.7619897G>A	ENSP00000221249:p.Cys880Tyr		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.C928Y	ENST00000221249.6	37	c.2783	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	g	27.1	4.802590	0.90623	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.35	5.35	0.76521	.	0.096169	0.64402	D	0.000001	T	0.47637	0.1456	M	0.62209	1.925	0.58432	D	0.999999	D;D;D;P	0.58970	0.972;0.984;0.984;0.898	P;P;D;P	0.64042	0.786;0.847;0.921;0.543	T	0.45848	-0.9233	10	0.87932	D	0	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	919;853;918;880	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Y	880;853;928;880	ENSP00000221249:C880Y;ENSP00000443323:C853Y;ENSP00000407509:C928Y;ENSP00000394348:C880Y	ENSP00000221249:C880Y	C	+	2	0	PNPLA6	7525897	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.465000	0.73538	2.523000	0.85059	0.555000	0.69702	TGC	PNPLA6	-	NULL		0.701	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	G	NM_006702		7619897	1	no_errors	ENST00000414982	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7619897	G	A	7619897	3	1	74	1	0	0	0	0	1	0	0	0	12193	1319	46	4	2873	4	PNPLA6	19	7619897	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	35486	7619897	51509086	917	11612										
KIAA1543	57662	genome.wustl.edu	37	chr19	7675783	7675783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcctccccccggggcactGaggcctccccacctcagaac	9	21	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7675783G>A	ENST00000160298.4	+	8	1116	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E366K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	339					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGGGCACTGAGGCCTCCCC	0.687																																																	0													49	56	53					19																	7675783		1980	4151	6131	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1015G>A	19.37:g.7675783G>A	ENSP00000160298:p.Glu339Lys		Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E366K	ENST00000160298.4	37	c.1096	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	2.473	-0.321453	0.05386	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.13901	2.55;2.56	4.68	4.68	0.58851	.	1.111380	0.06640	N	0.760895	T	0.15652	0.0377	L	0.29908	0.895	0.28078	N	0.932324	P;P	0.52316	0.704;0.952	B;P	0.49085	0.119;0.6	T	0.01007	-1.1483	10	0.07030	T	0.85	-29.7812	12.9754	0.58534	0.0:0.0:1.0:0.0	.	339;366	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	366;339	ENSP00000416797:E366K;ENSP00000160298:E339K	ENSP00000160298:E339K	E	+	1	0	KIAA1543	7581783	0.987000	0.35691	0.928000	0.36995	0.038000	0.13279	2.949000	0.49074	2.430000	0.82344	0.643000	0.83706	GAG	CAMSAP3	-	NULL		0.687	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7675783	1	no_errors	ENST00000446248	ensembl	human	known	70_37	missense	SNP	0.931	A	A	7675783	G	A	7675783	3	1	74	1	0	0	0	0	1	0	0	0	8263	1291	45	1	1134	1	KIAA1543	19	7675783	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	55886	7675783	51453200	918	11613										
XAB2	56949	genome.wustl.edu	37	chr19	7685819	7685819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tagatgttgaacatgtcataCtgctgggcgggctccacggc	13	10	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7685819C>T	ENST00000358368.4	-	14	1921	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	XAB2_ENST00000534844.1_Silent_p.Q625Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	628					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATGTCATACTGCTGGGCGG	0.637								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													20	20	20					19																	7685819		2199	4298	6497	SO:0001819	synonymous_variant	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1884G>A	19.37:g.7685819C>T			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q628	ENST00000358368.4	37	c.1884	CCDS32892.1	19																																																																																			XAB2	-	smart_HAT		0.637	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	C	NM_020196		7685819	-1	no_errors	ENST00000358368	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7685819	C	T	7685819	2	4	74	1	0	0	0	0	0	0	0	1	17449	564	20	4		4	XAB2	19	7685819	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	10036	7685819	51443164	919	11614										
TIMM44	10469	genome.wustl.edu	37	chr19	7997609	7997609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggatctccgtgagcacctccGacatctctgtcttggagaac	10	13	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7997609G>A	ENST00000270538.3	-	9	1158	c.890C>T	c.(889-891)tCg>tTg	p.S297L	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	297					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GAGCACCTCCGACATCTCTGT	0.647																																																	0													55	58	57					19																	7997609		2203	4300	6503	SO:0001583	missense	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.890C>T	19.37:g.7997609G>A	ENSP00000270538:p.Ser297Leu		A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.S297L	ENST00000270538.3	37	c.890	CCDS12192.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.260123	0.95368	.	.	ENSG00000104980	ENST00000270538	T	0.77489	-1.1	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89338	0.3652	10	0.87932	D	0	-9.492	16.2918	0.82756	0.0:0.0:1.0:0.0	.	297	O43615	TIM44_HUMAN	L	297	ENSP00000270538:S297L	ENSP00000270538:S297L	S	-	2	0	TIMM44	7903609	1.000000	0.71417	0.969000	0.41365	0.963000	0.63663	7.277000	0.78572	2.529000	0.85273	0.561000	0.74099	TCG	TIMM44	-	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44		0.647	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	G			7997609	-1	no_errors	ENST00000270538	ensembl	human	known	70_37	missense	SNP	0.999	A	A	7997609	G	A	7997609	3	1	74	1	0	0	0	0	1	0	0	0	15942	1059	37	1	488	1	TIMM44	19	7997609	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	311790	7997609	51131374	920	11615										
DNMT1	1786	genome.wustl.edu	37	chr19	10262176	10262176	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctctgggatgttatcatcGacttcctcatcgtcatctgc	7	12	5	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10262176G>A	ENST00000340748.4	-	23	2350	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	DNMT1_ENST00000359526.4_Silent_p.V721V|DNMT1_ENST00000540357.1_Silent_p.V705V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	705	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGTTATCATCGACTTCCTCAT	0.493																																																	0													246	206	220					19																	10262176		2203	4300	6503	SO:0001819	synonymous_variant	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2115C>T	19.37:g.10262176G>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.V721	ENST00000340748.4	37	c.2163	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk		0.493	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	G	NM_001379		10262176	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	silent	SNP	0.054	A	A	10262176	G	A	10262176	2	1	74	1	0	0	0	0	0	0	0	1	4685	1045	37	1		1	DNMT1	19	10262176	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2264567	10262176	48866807	921	11616										
ICAM3	3385	genome.wustl.edu	37	chr19	10446397	10446397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgttcacgaacagtcccagcCcctggggctgcatgtccagt	11	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10446397C>T	ENST00000160262.5	-	3	807	c.599G>A	c.(598-600)gGg>gAg	p.G200E	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.G123E	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	200					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGTCCCAGCCCCTGGGGCTG	0.642																																																	0													31	27	28					19																	10446397		2201	4300	6501	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.599G>A	19.37:g.10446397C>T	ENSP00000160262:p.Gly200Glu		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.G200E	ENST00000160262.5	37	c.599	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357055	0.41801	.	.	ENSG00000076662	ENST00000160262	T	0.05382	3.45	4.89	4.89	0.63831	Intercellular adhesion molecule (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.87971	2.92	0.09310	N	0.999994	D;D	0.89917	0.997;1.0	D;D	0.91635	0.984;0.999	T	0.09729	-1.0661	10	0.87932	D	0	-40.1927	13.897	0.63778	0.0:1.0:0.0:0.0	.	123;200	B7Z6W6;P32942	.;ICAM3_HUMAN	E	200	ENSP00000160262:G200E	ENSP00000160262:G200E	G	-	2	0	ICAM3	10307397	0.394000	0.25246	0.080000	0.20451	0.023000	0.10783	3.717000	0.54911	2.427000	0.82271	0.555000	0.69702	GGG	ICAM3	-	prints_ICAM		0.642	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	C			10446397	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	missense	SNP	0.269	T	T	10446397	C	T	10446397	3	4	74	1	0	0	0	0	1	0	0	0	7501	623	22	4	1064	4	ICAM3	19	10446397	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	184221	10446397	48682586	922	11617										
TYK2	7297	genome.wustl.edu	37	chr19	10469949	10469949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagccacacatccaggggtcCgtgctccacgtactctgtca	9	16	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10469949C>T	ENST00000525621.1	-	15	2558	c.2077G>A	c.(2077-2079)Gga>Aga	p.G693R	TYK2_ENST00000529370.1_Missense_Mutation_p.G693R|TYK2_ENST00000264818.6_Missense_Mutation_p.G693R|TYK2_ENST00000524462.1_Missense_Mutation_p.G508R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	693	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCCAGGGGTCCGTGCTCCACG	0.627																																																	0													46	38	41					19																	10469949		2203	4299	6502	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2077G>A	19.37:g.10469949C>T	ENSP00000431885:p.Gly693Arg		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.G693R	ENST00000525621.1	37	c.2077	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433536	0.62955	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000069	D	0.94971	0.8373	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.95541	0.8612	10	0.87932	D	0	-30.8858	15.8252	0.78698	0.0:1.0:0.0:0.0	.	693;693	E9PPF2;P29597	.;TYK2_HUMAN	R	508;693;693;440;693	ENSP00000433203:G508R;ENSP00000431885:G693R;ENSP00000264818:G693R;ENSP00000432728:G693R	ENSP00000264818:G693R	G	-	1	0	TYK2	10330949	1.000000	0.71417	0.618000	0.29105	0.114000	0.19823	7.249000	0.78278	2.609000	0.88269	0.655000	0.94253	GGA	TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.627	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10469949	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.991	T	T	10469949	C	T	10469949	3	4	74	1	0	0	0	0	1	0	0	0	16841	661	23	2	1530	2	TYK2	19	10469949	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	23552	10469949	48659034	923	11618										
TMED1	11018	genome.wustl.edu	37	chr19	10945990	10945990	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagcacgccctgagggctctCcagcgtgaagtccacgtcca	11	16	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10945990C>A	ENST00000214869.2	-	2	321	c.223G>T	c.(223-225)Gag>Tag	p.E75*	TMED1_ENST00000591695.1_Nonsense_Mutation_p.E75*|TMED1_ENST00000588289.1_5'UTR|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	75	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TGAGGGCTCTCCAGCGTGAAG	0.637																																																	0													126	99	108					19																	10945990		2203	4300	6503	SO:0001587	stop_gained	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.223G>T	19.37:g.10945990C>A	ENSP00000214869:p.Glu75*			Nonsense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.E75*	ENST00000214869.2	37	c.223	CCDS12249.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.297009	0.97453	.	.	ENSG00000099203	ENST00000214869	.	.	.	5.5	4.47	0.54385	.	0.402566	0.27691	N	0.018260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	0.012	9.7771	0.40626	0.0:0.8393:0.0:0.1607	.	.	.	.	X	75	.	ENSP00000214869:E75X	E	-	1	0	TMED1	10806990	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	0.765000	0.26546	1.316000	0.45131	0.561000	0.74099	GAG	TMED1	-	pfam_GOLD,superfamily_GOLD,pfscan_GOLD		0.637	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED1	HGNC	protein_coding	OTTHUMT00000452614.1	C	NM_006858		10945990	-1	no_errors	ENST00000214869	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10945990	C	A	10945990	4	1	74	1	0	0	0	0	0	1	0	0	16032	864	30	3	472	3	TMED1	19	10945990	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	476041	10945990	48182993	924	11619										
SMARCA4	6597	genome.wustl.edu	37	chr19	11105560	11105560	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcaaggaatatcacagatcCgtcacaggcaaaatccagaa	7	10	3	2	rs528531511		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11105560C>A	ENST00000429416.3	+	10	1757	c.1476C>A	c.(1474-1476)tcC>tcA	p.S492S	SMARCA4_ENST00000358026.2_Silent_p.S492S|SMARCA4_ENST00000450717.3_Silent_p.S492S|SMARCA4_ENST00000590574.1_Silent_p.S492S|SMARCA4_ENST00000589677.1_Silent_p.S492S|SMARCA4_ENST00000541122.2_Silent_p.S492S|SMARCA4_ENST00000344626.4_Silent_p.S492S|SMARCA4_ENST00000413806.3_Silent_p.S492S|SMARCA4_ENST00000444061.3_Silent_p.S492S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	492	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCACAGATCCGTCACAGGCA	0.517			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											105	92	96					19																	11105560		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1476C>A	19.37:g.11105560C>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.S492	ENST00000429416.3	37	c.1476	CCDS12253.1	19																																																																																			SMARCA4	-	pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd		0.517	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11105560	1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	0.010	A	A	11105560	C	A	11105560	2	1	74	1	0	0	0	0	0	0	0	1	14800	639	23	2		2	SMARCA4	19	11105560	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	159570	11105560	48023423	925	11620										
KANK2	25959	genome.wustl.edu	37	chr19	11304469	11304469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtaggaataggctgagtggCggctgtccccactggcattg	15	9	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11304469C>T	ENST00000586659.1	-	4	601	c.287G>A	c.(286-288)cGc>cAc	p.R96H	KANK2_ENST00000589359.1_Missense_Mutation_p.R96H|KANK2_ENST00000432929.2_Missense_Mutation_p.R96H|KANK2_ENST00000355150.5_Missense_Mutation_p.R96H|KANK2_ENST00000589894.1_Missense_Mutation_p.R96H			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	96					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGAGTGGCGGCTGTCCCC	0.682																																																	0													40	42	42					19																	11304469		2196	4288	6484	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.287G>A	19.37:g.11304469C>T	ENSP00000465650:p.Arg96His		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R96H	ENST00000586659.1	37	c.287	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639345	0.47153	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.47869	0.83;0.85	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.62502	0.2433	M	0.64997	1.995	0.44417	D	0.997333	D;P;D	0.89917	1.0;0.796;0.973	D;B;P	0.85130	0.997;0.263;0.632	T	0.63492	-0.6625	10	0.51188	T	0.08	-14.8737	10.2444	0.43332	0.0:0.9012:0.0:0.0988	.	96;96;96	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	H	96	ENSP00000395650:R96H;ENSP00000347276:R96H	ENSP00000347276:R96H	R	-	2	0	KANK2	11165469	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	3.413000	0.52686	1.986000	0.57962	0.462000	0.41574	CGC	KANK2	-	NULL		0.682	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	C	NM_015493		11304469	-1	no_errors	ENST00000432929	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11304469	C	T	11304469	3	4	74	1	0	0	0	0	1	0	0	0	7997	768	27	2	2332	2	KANK2	19	11304469	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	198909	11304469	47824514	926	11621										
DOCK6	57572	genome.wustl.edu	37	chr19	11361763	11361763	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagccacgccgggagtcattCtgccagtggagaatgtgcaa	14	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11361763C>G	ENST00000294618.7	-	6	519		c.e6-1			NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGAGTCATTCTGCCAGTGGA	0.557																																																	0													15	18	17					19																	11361763		2028	4180	6208	SO:0001630	splice_region_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.508-1G>C	19.37:g.11361763C>G			A6H8X5|Q7Z7P4|Q9P2F2	Splice_Site	SNP	-	e6-1	ENST00000294618.7	37	c.508-1	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058615	0.36277	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK6	11222763	1.000000	0.71417	0.987000	0.45799	0.094000	0.18550	7.174000	0.77620	2.250000	0.74265	0.462000	0.41574	.	DOCK6	-	-		0.557	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812	Intron	11361763	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	11361763	C	G	11361763	5	3	74	1	0	0	0	0	0	0	1	0	4701	927	32	1	5808	1	DOCK6	19	11361763	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	57294	11361763	47767220	927	11622										
CCDC151	115948	genome.wustl.edu	37	chr19	11531613	11531613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcctcctcctcactctcttCgtctaaggggggtgggggga	14	12	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11531613C>T	ENST00000356392.4	-	13	1765	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	CCDC151_ENST00000591179.1_Missense_Mutation_p.E500K|CCDC151_ENST00000545100.1_Missense_Mutation_p.E506K|RGL3_ENST00000393423.3_5'Flank|RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000586836.1_Missense_Mutation_p.E369K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	560										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCACTCTCTTCGTCTAAGGGG	0.592																																																	0													78	85	83					19																	11531613		2023	4161	6184	SO:0001583	missense	115948				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1678G>A	19.37:g.11531613C>T	ENSP00000348757:p.Glu560Lys		B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.E560K	ENST00000356392.4	37	c.1678	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274333	0.59649	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.16897	2.31;2.52	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000002	T	0.36635	0.0974	M	0.72894	2.215	0.45205	D	0.998216	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.11275	-1.0594	10	0.19590	T	0.45	-25.3252	12.1521	0.54055	0.0:1.0:0.0:0.0	.	560;560;540	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	K	506;560;539	ENSP00000442987:E506K;ENSP00000348757:E560K	ENSP00000348757:E560K	E	-	1	0	CCDC151	11392613	1.000000	0.71417	0.911000	0.35937	0.027000	0.11550	4.137000	0.58010	1.927000	0.55829	0.561000	0.74099	GAA	CCDC151	-	NULL		0.592	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	C	NM_145045		11531613	-1	no_errors	ENST00000356392	ensembl	human	known	70_37	missense	SNP	0.993	T	T	11531613	C	T	11531613	3	4	74	1	0	0	0	0	1	0	0	0	2791	893	31	1	113	1	CCDC151	19	11531613	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	169850	11531613	47597370	928	11623										
ZNF441	126068	genome.wustl.edu	37	chr19	11891821	11891821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggagaaaccctataaatgTgaatgtgggaaagcctttag	13	5	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11891821T>C	ENST00000357901.4	+	4	1284	c.1182T>C	c.(1180-1182)tgT>tgC	p.C394C	ZNF441_ENST00000454339.2_Silent_p.C327C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTATAAATGTGAATGTGGGA	0.388																																																	0													59	61	60					19																	11891821		2203	4300	6503	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1182T>C	19.37:g.11891821T>C				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C394	ENST00000357901.4	37	c.1182	CCDS12266.2	19																																																																																			ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	T	NM_152355		11891821	1	no_errors	ENST00000357901	ensembl	human	known	70_37	silent	SNP	0.138	C	C	11891821	T	C	11891821	2	2	74	1	0	0	0	0	0	0	0	1	17944	1702	59	5		5	ZNF441	19	11891821	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	360208	11891821	47237162	929	11624										
ZNF433	163059	genome.wustl.edu	37	chr19	12127369	12127369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctccatacacactgctttCgcatgattttactccagtag	5	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:12127369C>T	ENST00000344980.6	-	4	483	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.E70K|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ACACTGCTTTCGCATGATTTT	0.413																																																	0													93	94	94					19																	12127369		2172	4286	6458	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.313G>A	19.37:g.12127369C>T	ENSP00000339767:p.Glu105Lys		Q86VX3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E105K	ENST00000344980.6	37	c.313	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	7.439	0.640305	0.14386	.	.	ENSG00000197647	ENST00000419886;ENST00000344980;ENST00000550507;ENST00000455504;ENST00000552904;ENST00000478765	T;T;T;T;T;T	0.14144	3.29;3.44;2.53;2.53;2.53;5.07	1.2	-1.3	0.09259	.	.	.	.	.	T	0.13713	0.0332	L	0.47716	1.5	0.09310	N	1	D	0.65815	0.995	P	0.49799	0.622	T	0.25467	-1.0131	9	0.18710	T	0.47	.	6.0079	0.19557	0.0:0.6621:0.0:0.3379	.	105	Q8N7K0	ZN433_HUMAN	K	70;105;102;116;70;116	ENSP00000393416:E70K;ENSP00000339767:E105K;ENSP00000448099:E102K;ENSP00000414857:E116K;ENSP00000448233:E70K;ENSP00000447951:E116K	ENSP00000339767:E105K	E	-	1	0	ZNF433	11988369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.407000	0.07178	-0.419000	0.07439	-1.225000	0.01585	GAA	ZNF433	-	NULL		0.413	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12127369	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	0.000	T	T	12127369	C	T	12127369	3	4	74	1	0	0	0	0	1	0	0	0	17937	893	31	1	1712	1	ZNF433	19	12127369	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	235548	12127369	47001614	930	11625										
C19orf56	51398	genome.wustl.edu	37	chr19	12780007	12780007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catgtagtccggcgtcgggtCgtccaaggccgggttacatt	14	11	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:12780007C>T	ENST00000596731.1	-	2	2043	c.91G>A	c.(91-93)Gac>Aac	p.D31N	MAN2B1_ENST00000221363.4_5'Flank|WDR83_ENST00000242796.4_5'Flank|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.D29N|WDR83OS_ENST00000222190.5_Missense_Mutation_p.D31N|MAN2B1_ENST00000456935.2_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|WDR83_ENST00000418543.3_Intron	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	31						integral component of membrane (GO:0016021)											GGCGTCGGGTCGTCCAAGGCC	0.627																																																	0													65	63	63					19																	12780007		2203	4300	6503	SO:0001583	missense	51398			AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 56"	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.91G>A	19.37:g.12780007C>T	ENSP00000468969:p.Asp31Asn		B2R4T8|Q9BVI3	Missense_Mutation	SNP	pfam_UPF0139	p.D31N	ENST00000596731.1	37	c.91	CCDS12274.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.607740	0.96626	.	.	ENSG00000105583	ENST00000222190	T	0.62639	0.01	5.86	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.85859	2.78	0.80722	D	1	P	0.45569	0.861	P	0.45037	0.467	T	0.76870	-0.2799	10	0.72032	D	0.01	-16.5267	14.1155	0.65151	0.0:0.9267:0.0:0.0733	.	31	Q9Y284	CS056_HUMAN	N	31	ENSP00000222190:D31N	ENSP00000222190:D31N	D	-	1	0	C19orf56	12641007	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.158000	0.77470	1.484000	0.48361	0.655000	0.94253	GAC	WDR83OS	-	pfam_UPF0139		0.627	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR83OS	HGNC	protein_coding	OTTHUMT00000462702.1	C	NM_016145		12780007	-1	no_errors	ENST00000596731	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12780007	C	T	12780007	3	4	74	1	0	0	0	0	1	0	0	0	1943	884	31	1	241	1	C19orf56	19	12780007	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	652638	12780007	46348976	931	11626										
GCDH	2639	genome.wustl.edu	37	chr19	13008169	13008169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctgattcagaagaagctgGcagacatgctcactgagatt	11	8	2	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:13008169G>T	ENST00000222214.5	+	10	1220	c.1009G>T	c.(1009-1011)Gca>Tca	p.A337S	GCDH_ENST00000591470.1_Missense_Mutation_p.A337S|GCDH_ENST00000457854.1_Missense_Mutation_p.A337S|GCDH_ENST00000422947.2_Missense_Mutation_p.A293S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	337					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAAGAAGCTGGCAGACATGCT	0.617																																					GBM(123;875 1636 7726 16444 26754)												0													55	44	48					19																	13008169		2203	4300	6503	SO:0001583	missense	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1009G>T	19.37:g.13008169G>T	ENSP00000222214:p.Ala337Ser		A8K2Z2|O14719	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.A337S	ENST00000222214.5	37	c.1009	CCDS12286.1	19	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841571	0.91197	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.97772	-4.53;-4.53;-4.53	5.17	5.17	0.71159	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.050516	0.85682	D	0.000000	D	0.99105	0.9692	H	0.95079	3.62	0.80722	D	1	P;D;D;D;D	0.89917	0.933;0.971;1.0;0.999;0.974	P;P;D;D;D	0.79108	0.864;0.823;0.992;0.989;0.955	D	0.99264	1.0891	10	0.87932	D	0	.	16.5109	0.84284	0.0:0.0:1.0:0.0	.	293;173;304;337;337	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	S	337;337;304;293	ENSP00000394872:A337S;ENSP00000222214:A337S;ENSP00000394821:A293S	ENSP00000222214:A337S	A	+	1	0	GCDH	12869169	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	9.369000	0.97156	2.575000	0.86900	0.563000	0.77884	GCA	GCDH	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.617	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	G			13008169	1	no_errors	ENST00000222214	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13008169	G	T	13008169	3	4	74	1	0	0	0	0	1	0	0	0	6306	1203	42	4	1043	4	GCDH	19	13008169	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	228162	13008169	46120814	932	11627										
CC2D1A	54862	genome.wustl.edu	37	chr19	14024066	14024066	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacagcaattgaaagcgccaGacaagctggagacagcgcca	12	11	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:14024066G>T	ENST00000318003.7	+	5	705	c.464G>T	c.(463-465)aGa>aTa	p.R155I	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R155I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	155					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GAAAGCGCCAGACAAGCTGGA	0.647																																																	0													25	30	29					19																	14024066		1995	4162	6157	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.464G>T	19.37:g.14024066G>T	ENSP00000313601:p.Arg155Ile		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R155I	ENST00000318003.7	37	c.464	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641200	0.47153	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.22336	1.96	4.91	1.49	0.22878	Domain of unknown function DM14 (1);	0.103012	0.64402	D	0.000008	T	0.19167	0.0460	L	0.46157	1.445	0.46061	D	0.998845	P;P	0.46220	0.874;0.8	P;B	0.45071	0.468;0.259	T	0.02238	-1.1190	10	0.87932	D	0	-17.5525	5.6432	0.17575	0.4731:0.0:0.5269:0.0	.	155;155	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	I	155;130	ENSP00000313601:R155I	ENSP00000313601:R155I	R	+	2	0	CC2D1A	13885066	1.000000	0.71417	0.181000	0.23098	0.739000	0.42172	2.056000	0.41355	0.673000	0.31224	0.561000	0.74099	AGA	CC2D1A	-	smart_DM14		0.647	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721		14024066	1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	0.983	T	T	14024066	G	T	14024066	3	4	74	1	0	0	0	0	1	0	0	0	2731	942	33	3	482	3	CC2D1A	19	14024066	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1015897	14024066	45104917	933	11628										
CC2D1A	54862	genome.wustl.edu	37	chr19	14024406	14024406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggagggaccttctgccaccGccccagcctcatctccaggc	10	18	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:14024406G>A	ENST00000318003.7	+	6	944	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A235T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	235	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TTCTGCCACCGCCCCAGCCTC	0.682																																																	0													22	27	25					19																	14024406		1939	4117	6056	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.703G>A	19.37:g.14024406G>A	ENSP00000313601:p.Ala235Thr		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.A235T	ENST00000318003.7	37	c.703	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478056	0.26511	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.22945	1.93	4.58	-2.15	0.07102	.	0.466505	0.22045	N	0.065394	T	0.10637	0.0260	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.09377	0.004;0.001	T	0.29852	-0.9998	10	0.13470	T	0.59	-4.1984	5.3891	0.16234	0.2743:0.3908:0.3348:0.0	.	235;235	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	T	235;73;210	ENSP00000313601:A235T	ENSP00000254346:A73T	A	+	1	0	CC2D1A	13885406	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.143000	0.16115	-0.027000	0.13873	0.462000	0.41574	GCC	CC2D1A	-	NULL		0.682	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721		14024406	1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	0.016	A	A	14024406	G	A	14024406	3	1	74	1	0	0	0	0	1	0	0	0	2731	1087	38	2	725	2	CC2D1A	19	14024406	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	340	14024406	45104577	934	11629										
CC2D1A	54862	genome.wustl.edu	37	chr19	14040251	14040251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaccaagagcgtctggagcGgaaggtgggtatccatcctg	15	9	1	2	rs377502758		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:14040251G>A	ENST00000318003.7	+	25	2820	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R859Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	860					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGTCTGGAGCGGAAGGTGGGT	0.607																																																	0								G	GLN/ARG	0,3932		0,0,1966	93	96	95		2579	4.2	1	19		95	1,8293		0,1,4146	no	missense	CC2D1A	NM_017721.4	43	0,1,6112	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	860/952	14040251	1,12225	1966	4147	6113	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2579G>A	19.37:g.14040251G>A	ENSP00000313601:p.Arg860Gln		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R860Q	ENST00000318003.7	37	c.2579	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713082	0.89112	0.0	1.21E-4	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.32023	1.47	5.32	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.53249	1.67	0.33982	D	0.648117	D;D;D	0.71674	0.996;0.991;0.998	P;P;P	0.54759	0.75;0.62;0.76	T	0.55444	-0.8140	10	0.62326	D	0.03	-32.3751	10.4216	0.44354	0.0:0.0:0.8052:0.1948	.	481;859;860	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	Q	860;482	ENSP00000313601:R860Q	ENSP00000254346:R482Q	R	+	2	0	CC2D1A	13901251	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.454000	0.52986	2.486000	0.83907	0.491000	0.48974	CGG	CC2D1A	-	NULL		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721		14040251	1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14040251	G	A	14040251	3	1	74	1	0	0	0	0	1	0	0	0	2731	1116	39	2	2677	2	CC2D1A	19	14040251	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	15845	14040251	45088732	935	11630										
BRD4	23476	genome.wustl.edu	37	chr19	15349885	15349885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccacctcatgcgctcctgcCgcagccgctccttctccttc	6	22	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:15349885C>T	ENST00000263377.2	-	18	3988	c.3767G>A	c.(3766-3768)cGg>cAg	p.R1256Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1256	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCGCTCCTGCCGCAGCCGCTC	0.682			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													13	17	16					19																	15349885		2194	4286	6480	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3767G>A	19.37:g.15349885C>T	ENSP00000263377:p.Arg1256Gln		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R1256Q	ENST00000263377.2	37	c.3767	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547261	0.45383	.	.	ENSG00000141867	ENST00000263377	T	0.18502	2.21	4.87	4.87	0.63330	.	0.000000	0.48286	D	0.000184	T	0.11410	0.0278	L	0.36672	1.1	0.80722	D	1	D	0.53619	0.961	B	0.35114	0.196	T	0.04664	-1.0935	10	0.44086	T	0.13	-27.9636	10.4958	0.44777	0.0:0.9089:0.0:0.0911	.	1256	O60885	BRD4_HUMAN	Q	1256	ENSP00000263377:R1256Q	ENSP00000263377:R1256Q	R	-	2	0	BRD4	15210885	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.356000	0.59430	2.233000	0.73108	0.550000	0.68814	CGG	BRD4	-	NULL		0.682	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15349885	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15349885	C	T	15349885	3	4	74	1	0	0	0	0	1	0	0	0	1507	652	23	2	333	2	BRD4	19	15349885	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1309634	15349885	43779098	936	11631										
OR10H5	284433	genome.wustl.edu	37	chr19	15905729	15905729	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttcctcagccccatcatcTtcagcctcaggaacaaggag	7	16	5	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:15905729T>G	ENST00000308940.8	+	1	969	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCCCATCATCTTCAGCCTCAG	0.522																																																	0													75	65	68					19																	15905729		2203	4298	6501	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.871T>G	19.37:g.15905729T>G	ENSP00000310704:p.Phe291Val		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F291V	ENST00000308940.8	37	c.871	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856373	0.51376	.	.	ENSG00000172519	ENST00000308940	T	0.37411	1.2	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000099	T	0.52821	0.1758	L	0.57536	1.79	0.38326	D	0.943671	D	0.89917	1.0	D	0.91635	0.999	T	0.59663	-0.7412	10	0.87932	D	0	.	10.414	0.44311	0.0:0.0:0.0:1.0	.	291	Q8NGA6	O10H5_HUMAN	V	291	ENSP00000310704:F291V	ENSP00000310704:F291V	F	+	1	0	OR10H5	15766729	1.000000	0.71417	0.997000	0.53966	0.402000	0.30811	7.178000	0.77657	1.403000	0.46800	0.254000	0.18369	TTC	OR10H5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.522	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	T			15905729	1	no_errors	ENST00000308940	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15905729	T	G	15905729	3	3	74	1	0	0	0	0	1	0	0	0	10933	1609	56	5	873	5	OR10H5	19	15905729	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	555844	15905729	43223254	937	11632										
SLC35E1	79939	genome.wustl.edu	37	chr19	16683100	16683100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgccgccacccgcgcgccctCgcgcgccccaccactgctgc	10	25	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:16683100C>T	ENST00000595753.1	-	1	93	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SLC35E1_ENST00000431408.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	26					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CGCGCGCCCTCGCGCGCCCCA	0.781																																																	0													8	11	10					19																	16683100		656	1558	2214	SO:0001583	missense	79939			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.76G>A	19.37:g.16683100C>T	ENSP00000470652:p.Glu26Lys		Q8NBQ2|Q96JV7	Missense_Mutation	SNP	pfam_DUF250,pfam_DMT,pfam_UAA	p.E26K	ENST00000595753.1	37	c.76	CCDS12346.2	19	.	.	.	.	.	.	.	.	.	.	c	12.84	2.059782	0.36373	.	.	ENSG00000127526	ENST00000409648;ENST00000436553	.	.	.	3.67	1.49	0.22878	.	.	.	.	.	T	0.34803	0.0910	L	0.27053	0.805	0.80722	D	1	B	0.17465	0.022	B	0.12156	0.007	T	0.23013	-1.0200	8	0.02654	T	1	.	7.9008	0.29734	0.0:0.7869:0.0:0.2131	.	26	Q96K37	S35E1_HUMAN	K	26;6	.	ENSP00000387152:E26K	E	-	1	0	SLC35E1	16544100	1.000000	0.71417	0.708000	0.30435	0.119000	0.20118	5.581000	0.67471	0.093000	0.17368	0.306000	0.20318	GAG	SLC35E1	-	NULL		0.781	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	C	NM_024881		16683100	-1	no_errors	ENST00000595753	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16683100	C	T	16683100	3	4	74	1	0	0	0	0	1	0	0	0	14614	893	31	1	1180	1	SLC35E1	19	16683100	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	777371	16683100	42445883	938	11633										
ANO8	57719	genome.wustl.edu	37	chr19	17435963	17435963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgccagcagggaccctgggCgcttgggccgttcaggcccg	17	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:17435963C>T	ENST00000159087.4	-	17	3052	c.2894G>A	c.(2893-2895)cGc>cAc	p.R965H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	965					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGACCCTGGGCGCTTGGGCCG	0.652																																																	0													56	55	55					19																	17435963		2203	4300	6503	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2894G>A	19.37:g.17435963C>T	ENSP00000159087:p.Arg965His		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.R965H	ENST00000159087.4	37	c.2894	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841539	0.71488	.	.	ENSG00000074855	ENST00000159087	T	0.78481	-1.18	4.21	4.21	0.49690	.	0.116245	0.56097	D	0.000037	D	0.84488	0.5483	L	0.55990	1.75	0.41898	D	0.9904	D	0.89917	1.0	D	0.80764	0.994	D	0.86195	0.1615	10	0.62326	D	0.03	.	14.0274	0.64594	0.0:1.0:0.0:0.0	.	965	Q9HCE9	ANO8_HUMAN	H	965	ENSP00000159087:R965H	ENSP00000159087:R965H	R	-	2	0	ANO8	17296963	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.892000	0.75644	1.887000	0.54652	0.491000	0.48974	CGC	ANO8	-	NULL		0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	C	XM_050644		17435963	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17435963	C	T	17435963	3	4	74	1	0	0	0	0	1	0	0	0	703	768	27	2	812	2	ANO8	19	17435963	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	752863	17435963	41693020	939	11634										
MAP1S	55201	genome.wustl.edu	37	chr19	17838081	17838081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cactggagctgcctttggccGccagctcaatcccaaggcca	10	16	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:17838081G>A	ENST00000324096.4	+	5	2039	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A604T	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	630	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCCTTTGGCCGCCAGCTCAAT	0.731																																																	0													8	9	8					19																	17838081		2167	4250	6417	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1888G>A	19.37:g.17838081G>A	ENSP00000325313:p.Ala630Thr		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.A630T	ENST00000324096.4	37	c.1888	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264501	0.23136	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.19250	2.16;2.17	3.87	-7.05	0.01573	.	0.702810	0.12266	N	0.484226	T	0.07818	0.0196	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.25012	-1.0144	10	0.26408	T	0.33	-1.6142	6.1616	0.20368	0.5266:0.1756:0.2979:0.0	.	604;630	B4DH53;Q66K74	.;MAP1S_HUMAN	T	630;604	ENSP00000325313:A630T;ENSP00000439243:A604T	ENSP00000325313:A630T	A	+	1	0	MAP1S	17699081	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.459000	0.01000	-1.479000	0.01867	-0.350000	0.07774	GCC	MAP1S	-	NULL		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17838081	1	no_errors	ENST00000324096	ensembl	human	known	70_37	missense	SNP	0.000	A	A	17838081	G	A	17838081	3	1	74	1	0	0	0	0	1	0	0	0	9257	1087	38	2	1906	2	MAP1S	19	17838081	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	402118	17838081	41290902	940	11635										
ELL	8178	genome.wustl.edu	37	chr19	18572600	18572600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caagttgatgggggttgcccGcttccgggagggcaccgcgt	17	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:18572600G>A	ENST00000262809.4	-	5	603	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	ELL_ENST00000596124.3_Missense_Mutation_p.R45W	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	178					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGGGTTGCCCGCTTCCGGGAG	0.617			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													68	70	69					19																	18572600		2203	4300	6503	SO:0001583	missense	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.532C>T	19.37:g.18572600G>A	ENSP00000262809:p.Arg178Trp	726		Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R178W	ENST00000262809.4	37	c.532	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879233	0.33162	.	.	ENSG00000105656	ENST00000262809	T	0.31769	1.48	4.37	4.37	0.52481	.	0.287575	0.35320	N	0.003281	T	0.36936	0.0985	M	0.73962	2.25	0.39709	D	0.971307	B;B	0.26081	0.141;0.066	B;B	0.22880	0.042;0.013	T	0.46176	-0.9210	10	0.87932	D	0	-13.2235	16.0946	0.81112	0.0:0.0:1.0:0.0	.	122;178	Q59HG4;P55199	.;ELL_HUMAN	W	178	ENSP00000262809:R178W	ENSP00000262809:R178W	R	-	1	2	ELL	18433600	1.000000	0.71417	0.996000	0.52242	0.342000	0.28953	3.681000	0.54648	2.272000	0.75746	0.555000	0.69702	CGG	ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.617	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	G	NM_006532		18572600	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18572600	G	A	18572600	3	1	74	1	0	0	0	0	1	0	0	0	5074	1086	38	2	1365	2	ELL	19	18572600	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	734519	18572600	40556383	941	11636										
FKBP8	23770	genome.wustl.edu	37	chr19	18643565	18643565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tctccgtgctccgctgcgccGcatgcttcttcaccagcttt	8	17	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:18643565G>A	ENST00000596558.2	-	8	1170	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	FKBP8_ENST00000597960.3_Missense_Mutation_p.A355V|FKBP8_ENST00000608443.1_Missense_Mutation_p.A355V|AC005387.3_ENST00000597837.2_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.A383V|FKBP8_ENST00000222308.4_Missense_Mutation_p.A354V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000610101.1_Missense_Mutation_p.A195V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	354					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCGCTGCGCCGCATGCTTCTT	0.632																																																	0													45	41	42					19																	18643565		2203	4300	6503	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.1061C>T	19.37:g.18643565G>A	ENSP00000472302:p.Ala354Val		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.A383V	ENST00000596558.2	37	c.1148		19	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735352	0.48939	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.38887	1.11;1.76;1.37	5.24	5.24	0.73138	.	0.138436	0.49916	D	0.000127	T	0.40645	0.1125	N	0.19112	0.55	0.51012	D	0.999905	D;B;B;B	0.62365	0.991;0.329;0.314;0.236	P;B;B;B	0.50490	0.642;0.045;0.033;0.02	T	0.39461	-0.9613	10	0.59425	D	0.04	-15.9389	17.3975	0.87450	0.0:0.0:1.0:0.0	.	383;298;354;355	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	355;195;383	ENSP00000222308:A355V;ENSP00000441267:A195V;ENSP00000388891:A383V	ENSP00000222308:A355V	A	-	2	0	FKBP8	18504565	1.000000	0.71417	0.438000	0.26821	0.159000	0.22180	6.933000	0.75874	2.447000	0.82792	0.655000	0.94253	GCG	FKBP8	-	NULL		0.632	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	G	NM_012181		18643565	-1	no_errors	ENST00000453489	ensembl	human	known	70_37	missense	SNP	0.995	A	A	18643565	G	A	18643565	3	1	74	1	0	0	0	0	1	0	0	0	5932	1087	38	2	185	2	FKBP8	19	18643565	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	70965	18643565	40485418	942	11637										
COPE	11316	genome.wustl.edu	37	chr19	19014100	19014100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtctagcgcctcctgcagcaGgccctcagcggcctcccagc	11	19	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19014100G>T	ENST00000262812.4	-	7	760	c.712C>A	c.(712-714)Ctg>Atg	p.L238M	COPE_ENST00000349893.4_Intron|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Missense_Mutation_p.L187M|COPE_ENST00000600932.1_Missense_Mutation_p.L261M	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	238					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TCCTGCAGCAGGCCCTCAGCG	0.682																																																	0													24	24	24					19																	19014100		2203	4298	6501	SO:0001583	missense	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.712C>A	19.37:g.19014100G>T	ENSP00000262812:p.Leu238Met		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.L238M	ENST00000262812.4	37	c.712	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638728	0.29157	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000538245	T;T	0.52057	0.68;0.68	5.15	2.95	0.34219	Tetratricopeptide-like helical (1);	0.253292	0.38663	N	0.001612	T	0.64994	0.2649	M	0.76727	2.345	0.80722	D	1	B;P;P	0.40731	0.389;0.728;0.728	P;P;P	0.59171	0.653;0.739;0.853	T	0.62923	-0.6751	10	0.35671	T	0.21	-14.8609	14.2067	0.65739	0.0:0.6544:0.3456:0.0	.	238;187;238	Q53HJ6;A6NKA3;O14579	.;.;COPE_HUMAN	M	238;187;237	ENSP00000262812:L238M;ENSP00000345674:L187M	ENSP00000262812:L238M	L	-	1	2	COPE	18875100	0.985000	0.35326	0.498000	0.27564	0.370000	0.29829	3.032000	0.49736	0.536000	0.28733	0.462000	0.41574	CTG	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.682	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19014100	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	missense	SNP	0.921	T	T	19014100	G	T	19014100	3	4	74	1	0	0	0	0	1	0	0	0	3735	991	35	4	230	4	COPE	19	19014100	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	370535	19014100	40114883	943	11638										
LPAR2	9170	genome.wustl.edu	37	chr19	19737448	19737448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catgcgctgcactcgccgccGcacgtagaagaaaatgcggg	13	13	0	2	rs368960100		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19737448G>A	ENST00000542587.1	-	5	1548	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	LPAR2_ENST00000407877.3_Missense_Mutation_p.R216W|LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000586703.1_Missense_Mutation_p.R216W			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	216					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						ACTCGCCGCCGCACGTAGAAG	0.602																																																	0													56	59	58					19																	19737448		2203	4300	6503	SO:0001583	missense	9170			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.646C>T	19.37:g.19737448G>A	ENSP00000443256:p.Arg216Trp		O00543|O43431	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.R216W	ENST00000542587.1	37	c.646	CCDS12407.1	19	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724884	0.30593	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.41400	1.0;1.0	4.14	-2.52	0.06346	GPCR, rhodopsin-like superfamily (1);	0.055445	0.64402	D	0.000003	T	0.59715	0.2214	M	0.84433	2.695	0.19945	N	0.999947	D	0.89917	1.0	D	0.77004	0.989	T	0.54323	-0.8311	10	0.87932	D	0	.	8.3534	0.32316	0.087:0.0:0.2224:0.6906	.	216	Q9HBW0	LPAR2_HUMAN	W	216	ENSP00000384665:R216W;ENSP00000443256:R216W	ENSP00000384665:R216W	R	-	1	2	LPAR2	19598448	0.003000	0.15002	0.008000	0.14137	0.003000	0.03518	0.629000	0.24538	-0.566000	0.06054	-0.258000	0.10820	CGG	LPAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt,prints_S1P_rcpt		0.602	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	HGNC	protein_coding	OTTHUMT00000460544.1	G	NM_004720		19737448	-1	no_errors	ENST00000407877	ensembl	human	known	70_37	missense	SNP	0.022	A	A	19737448	G	A	19737448	3	1	74	1	0	0	0	0	1	0	0	0	8928	1086	38	2	417	2	LPAR2	19	19737448	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	723348	19737448	39391535	944	11639										
ZNF101	94039	genome.wustl.edu	37	chr19	19790233	19790233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acgccccgtaaacagaaacaAcatgggaaagcctccatttc	7	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19790233A>G	ENST00000592502.1	+	4	545	c.435A>G	c.(433-435)caA>caG	p.Q145Q	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.Q25Q			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AACAGAAACAACATGGGAAAG	0.517																																																	0													94	87	90					19																	19790233		2203	4300	6503	SO:0001819	synonymous_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.435A>G	19.37:g.19790233A>G			C9JU83|Q0VDG9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q145	ENST00000592502.1	37	c.435	CCDS32971.1	19																																																																																			ZNF101	-	NULL		0.517	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	A	NM_033204		19790233	1	no_errors	ENST00000318110	ensembl	human	known	70_37	silent	SNP	0.024	G	G	19790233	A	G	19790233	2	3	74	1	0	0	0	0	0	0	0	1	17744	40	2	5		5	ZNF101	19	19790233	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	52785	19790233	39338750	945	11640										
C19orf2	8725	genome.wustl.edu	37	chr19	30505884	30505884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcccgcactacccactattCcagaacgaaaggaagttctg	7	13	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:30505884C>A	ENST00000542441.2	+	11	1813	c.1516C>A	c.(1516-1518)Cca>Aca	p.P506T	URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.P466T|URI1_ENST00000392271.1_Missense_Mutation_p.P430T			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	506					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ACCCACTATTCCAGAACGAAA	0.433																																																	0													126	128	128					19																	30505884		2203	4300	6503	SO:0001583	missense	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1516C>A	19.37:g.30505884C>A	ENSP00000442436:p.Pro506Thr		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin	p.P506T	ENST00000542441.2	37	c.1516	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657056	0.47467	.	.	ENSG00000105176	ENST00000392271;ENST00000542441;ENST00000312051	T	0.49432	0.78	6.07	6.07	0.98685	.	0.164449	0.56097	D	0.000033	T	0.58323	0.2114	L	0.55481	1.735	0.43835	D	0.996415	D;D	0.61697	0.984;0.99	P;P	0.55345	0.774;0.674	T	0.44329	-0.9335	10	0.14656	T	0.56	-15.4634	20.6439	0.99570	0.0:1.0:0.0:0.0	.	466;506	F8W9T0;O94763	.;RMP_HUMAN	T	430;506;466	ENSP00000442436:P506T	ENSP00000312530:P466T	P	+	1	0	C19orf2	35197724	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	5.349000	0.66010	2.890000	0.99128	0.650000	0.86243	CCA	URI1	-	NULL		0.433	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	HGNC	protein_coding	OTTHUMT00000439756.1	C	NM_134447		30505884	1	no_errors	ENST00000542441	ensembl	human	known	70_37	missense	SNP	0.998	A	A	30505884	C	A	30505884	3	1	74	1	0	0	0	0	1	0	0	0	1916	855	30	3	1558	3	C19orf2	19	30505884	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	10715651	30505884	28623099	946	11641										
PDCD2L	84306	genome.wustl.edu	37	chr19	34912433	34912433	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccttgtcctaggtattcctgGagtggagagccactcttttt	10	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:34912433G>C	ENST00000246535.3	+	6	854	c.807G>C	c.(805-807)tgG>tgC	p.W269C	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	269					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGTATTCCTGGAGTGGAGAGC	0.488																																																	0													196	210	205					19																	34912433		2203	4300	6503	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.807G>C	19.37:g.34912433G>C	ENSP00000246535:p.Trp269Cys			Missense_Mutation	SNP	pfam_PDCD2_C	p.W269C	ENST00000246535.3	37	c.807	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093615	0.76756	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	5.98	0.97165	Programmed cell death protein 2, C-terminal (1);	0.107046	0.64402	D	0.000001	T	0.77232	0.4100	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73382	-0.4000	9	0.38643	T	0.18	-12.3382	19.208	0.93742	0.0:0.0:1.0:0.0	.	269	Q9BRP1	PDD2L_HUMAN	C	269	.	ENSP00000246535:W269C	W	+	3	0	PDCD2L	39604273	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.440000	0.66563	2.843000	0.97960	0.585000	0.79938	TGG	PDCD2L	-	pfam_PDCD2_C		0.488	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3	G	NM_032346		34912433	1	no_errors	ENST00000246535	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34912433	G	C	34912433	3	2	74	1	0	0	0	0	1	0	0	0	11644	1183	41	1	829	1	PDCD2L	19	34912433	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4406549	34912433	24216550	947	11642										
ZNF302	55900	genome.wustl.edu	37	chr19	35175900	35175900	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgagtgtcgtatatgtggaAaggccttcattcatagttcg	11	6	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35175900A>T	ENST00000446502.2	+	6	1298	c.1090A>T	c.(1090-1092)Aag>Tag	p.K364*	ZNF302_ENST00000423823.2_Nonsense_Mutation_p.K320*|ZNF302_ENST00000505242.1_Nonsense_Mutation_p.K320*|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Nonsense_Mutation_p.K320*			Q9NR11	ZN302_HUMAN	zinc finger protein 302	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATATGTGGAAAGGCCTTCAT	0.408																																																	0													60	61	61					19																	35175900		2203	4300	6503	SO:0001587	stop_gained	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1090A>T	19.37:g.35175900A>T	ENSP00000396379:p.Lys364*		Q658J3|Q9BZD8|Q9P0J4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K320*	ENST00000446502.2	37	c.958		19	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411677	0.83340	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	.	.	.	0.967	0.967	0.19674	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.111	0.20100	1.0:0.0:0.0:0.0	.	.	.	.	X	320;320;320;364	.	ENSP00000405219:K320X	K	+	1	0	ZNF302	39867740	1.000000	0.71417	0.965000	0.40720	0.565000	0.35776	5.804000	0.69135	0.686000	0.31488	0.383000	0.25322	AAG	ZNF302	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	A			35175900	1	no_errors	ENST00000423823	ensembl	human	known	70_37	nonsense	SNP	0.993	T	T	35175900	A	T	35175900	4	4	74	1	0	0	0	0	0	1	0	0	17862	15	1	5	972	5	ZNF302	19	35175900	Nonsense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	263467	35175900	23953083	948	11643										
FXYD3	5349	genome.wustl.edu	37	chr19	35613710	35613710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgggctcatctgcgctgggGttctgtgcgccatgggcatc	16	12	3	0	rs373639453		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35613710G>T	ENST00000344013.6	+	6	335	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F	FXYD3_ENST00000604804.1_Missense_Mutation_p.V76F|FXYD3_ENST00000535103.1_Missense_Mutation_p.V104F|FXYD3_ENST00000435734.2_Missense_Mutation_p.V47F|FXYD3_ENST00000603181.1_Missense_Mutation_p.V47F|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000605677.1_Missense_Mutation_p.V47F|FXYD3_ENST00000604255.1_Missense_Mutation_p.V104F|FXYD3_ENST00000605550.1_Missense_Mutation_p.V47F|FXYD3_ENST00000406988.1_Missense_Mutation_p.V47F|FXYD3_ENST00000604404.1_Missense_Mutation_p.V47F|FXYD3_ENST00000604621.1_Missense_Mutation_p.V47F|FXYD3_ENST00000406242.3_Missense_Mutation_p.V47F|FXYD3_ENST00000603524.1_Missense_Mutation_p.V76F|FXYD3_ENST00000346446.5_Missense_Mutation_p.V47F			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	47					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGCGCTGGGGTTCTGTGCGC	0.662																																																	0													87	91	90					19																	35613710		2203	4300	6503	SO:0001583	missense	5349			X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"FXYD domain-containing ion transport regulator 3"	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.139G>T	19.37:g.35613710G>T	ENSP00000339499:p.Val47Phe		A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	pfam_Ion-transport_regulator_FXYD	p.V104F	ENST00000344013.6	37	c.310	CCDS12442.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382966	0.42207	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.97	-5.27	0.02763	.	0.525817	0.18372	N	0.143240	T	0.72811	0.3507	L	0.53617	1.68	0.22500	N	0.999044	D;P;D;P	0.57571	0.98;0.944;0.962;0.922	P;P;P;P	0.60068	0.868;0.498;0.628;0.627	T	0.70766	-0.4783	10	0.72032	D	0.01	-2.9552	12.1756	0.54184	0.7931:0.0:0.2069:0.0	.	104;47;47;47	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	F	47;104;47;47;47;104	ENSP00000385412:V47F;ENSP00000328259:V47F;ENSP00000339499:V47F;ENSP00000385200:V47F;ENSP00000443953:V104F	ENSP00000339499:V47F	V	+	1	0	FXYD3	40305550	0.000000	0.05858	0.001000	0.08648	0.264000	0.26372	-1.294000	0.02767	-0.832000	0.04251	0.650000	0.86243	GTT	FXYD3	-	pfam_Ion-transport_regulator_FXYD		0.662	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FXYD3	HGNC	protein_coding	OTTHUMT00000468985.1	G	NM_021910		35613710	1	no_errors	ENST00000435734	ensembl	human	known	70_37	missense	SNP	0.001	T	T	35613710	G	T	35613710	3	4	74	1	0	0	0	0	1	0	0	0	6137	1261	44	4	421	4	FXYD3	19	35613710	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	437810	35613710	23515273	949	11644										
LGI4	163175	genome.wustl.edu	37	chr19	35625473	35625473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cggggagccctcacacagggCgctgtctttagagcaggagc	15	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35625473C>T	ENST00000310123.3	-	1	631	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	LGI4_ENST00000392225.3_Missense_Mutation_p.A38T|LGI4_ENST00000493050.1_Intron|LGI4_ENST00000591633.1_Missense_Mutation_p.A38T	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	38					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCACACAGGGCGCTGTCTTTA	0.652																																																	0													39	40	39					19																	35625473		2190	4295	6485	SO:0001583	missense	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.112G>A	19.37:g.35625473C>T	ENSP00000312273:p.Ala38Thr		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A38T	ENST00000310123.3	37	c.112	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377475	0.61735	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.64260	-0.09;0.07	5.15	2.93	0.34026	.	0.226096	0.29892	N	0.010930	T	0.45094	0.1325	L	0.32530	0.975	0.29618	N	0.846398	P;B	0.49635	0.926;0.036	B;B	0.40477	0.33;0.013	T	0.46735	-0.9170	10	0.49607	T	0.09	.	5.5109	0.16880	0.1973:0.6978:0.0:0.1049	.	38;38	Q8N135-2;Q8N135	.;LGI4_HUMAN	T	38	ENSP00000312273:A38T;ENSP00000376059:A38T	ENSP00000312273:A38T	A	-	1	0	LGI4	40317313	1.000000	0.71417	0.780000	0.31762	0.948000	0.59901	4.874000	0.63064	0.495000	0.27882	0.591000	0.81541	GCC	LGI4	-	NULL		0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	HGNC	protein_coding	OTTHUMT00000103963.1	C			35625473	-1	no_errors	ENST00000310123	ensembl	human	known	70_37	missense	SNP	0.978	T	T	35625473	C	T	35625473	3	4	74	1	0	0	0	0	1	0	0	0	8774	768	27	2	1537	2	LGI4	19	35625473	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	11763	35625473	23503510	950	11645										
FAM187B	148109	genome.wustl.edu	37	chr19	35715967	35715967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttgaactgggccacgagctCctgctgcacgaagcacttgt	11	12	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35715967C>T	ENST00000324675.3	-	2	919	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	291						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCACGAGCTCCTGCTGCACG	0.657																																																	0													23	27	25					19																	35715967		2203	4300	6503	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.871G>A	19.37:g.35715967C>T	ENSP00000323355:p.Glu291Lys		Q8N7G6	Missense_Mutation	SNP	NULL	p.E291K	ENST00000324675.3	37	c.871	CCDS12448.1	19	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848663	0.51164	.	.	ENSG00000177558	ENST00000324675	T	0.52983	0.64	4.28	3.24	0.37175	.	0.128995	0.35436	N	0.003209	T	0.31796	0.0808	L	0.28740	0.885	0.31347	N	0.683017	P	0.35507	0.506	B	0.35470	0.203	T	0.36335	-0.9752	10	0.45353	T	0.12	-43.8686	7.345	0.26658	0.0:0.8818:0.0:0.1182	.	291	Q17R55	F187B_HUMAN	K	291	ENSP00000323355:E291K	ENSP00000323355:E291K	E	-	1	0	FAM187B	40407807	0.955000	0.32602	0.997000	0.53966	0.891000	0.51852	0.661000	0.25023	2.377000	0.81083	0.563000	0.77884	GAG	FAM187B	-	NULL		0.657	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1	C	NM_152481		35715967	-1	no_errors	ENST00000324675	ensembl	human	known	70_37	missense	SNP	0.970	T	T	35715967	C	T	35715967	3	4	74	1	0	0	0	0	1	0	0	0	5528	864	30	1	242	1	FAM187B	19	35715967	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	90494	35715967	23413016	951	11646										
FFAR2	2867	genome.wustl.edu	37	chr19	35940660	35940660	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgatcctcatggcttacaTcatcatcttcctcactggcc	5	15	5	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35940660T>G	ENST00000599180.2	+	2	124	c.44T>G	c.(43-45)aTc>aGc	p.I15S	FFAR2_ENST00000246549.2_Missense_Mutation_p.I15S|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	15					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGCTTACATCATCATCTTC	0.632																																					GBM(40;139 809 9833 23358 48736)												0													76	69	71					19																	35940660		2203	4300	6503	SO:0001583	missense	2867			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.44T>G	19.37:g.35940660T>G	ENSP00000473159:p.Ile15Ser		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.I15S	ENST00000599180.2	37	c.44	CCDS12461.1	19	.	.	.	.	.	.	.	.	.	.	T	8.908	0.958019	0.18507	.	.	ENSG00000126262	ENST00000246549	T	0.36699	1.24	5.76	3.65	0.41850	.	0.646613	0.15965	N	0.236077	T	0.34221	0.0890	L	0.45285	1.41	0.27456	N	0.9533	P	0.47106	0.89	P	0.47299	0.543	T	0.08351	-1.0726	10	0.25751	T	0.34	-22.2054	9.1445	0.36923	0.0:0.1582:0.0:0.8418	.	15	O15552	FFAR2_HUMAN	S	15	ENSP00000246549:I15S	ENSP00000246549:I15S	I	+	2	0	FFAR2	40632500	0.058000	0.20735	0.066000	0.19879	0.015000	0.08874	2.600000	0.46240	1.117000	0.41842	0.528000	0.53228	ATC	FFAR2	-	prints_GPCR_Rhodpsn		0.632	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR2	HGNC	protein_coding	OTTHUMT00000466120.3	T	NM_005306		35940660	1	no_errors	ENST00000246549	ensembl	human	known	70_37	missense	SNP	0.556	G	G	35940660	T	G	35940660	3	3	74	1	0	0	0	0	1	0	0	0	5846	1435	50	5	46	5	FFAR2	19	35940660	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	224693	35940660	23188323	952	11647										
C19orf46	163183	genome.wustl.edu	37	chr19	36497520	36497520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaccaggtcctggccagtcCgagtctccctcgacctccaa	8	19	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36497520C>T	ENST00000324444.3	-	5	783	c.672G>A	c.(670-672)tcG>tcA	p.S224S	ALKBH6_ENST00000495116.2_5'Flank|SYNE4_ENST00000340477.5_Silent_p.S111S|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	224			S -> L (in dbSNP:rs34818970).		establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTGGCCAGTCCGAGTCTCCCT	0.657																																																	0													21	23	22					19																	36497520		1892	4110	6002	SO:0001819	synonymous_variant	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.672G>A	19.37:g.36497520C>T			A8MRS0|A8MYE3|Q7Z7L3	Silent	SNP	pfam_KASH,pfscan_KASH	p.S224	ENST00000324444.3	37	c.672	CCDS42553.1	19																																																																																			SYNE4	-	NULL		0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE4	HGNC	protein_coding	OTTHUMT00000109525.3	C	NM_001039876		36497520	-1	no_errors	ENST00000324444	ensembl	human	known	70_37	silent	SNP	0.000	T	T	36497520	C	T	36497520	2	4	74	1	0	0	0	0	0	0	0	1	1934	639	23	2		2	C19orf46	19	36497520	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	556860	36497520	22631463	953	11648										
CLIP3	25999	genome.wustl.edu	37	chr19	36518143	36518143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaacaggatctcctggcacGccgggtcattgggatcgaag	13	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36518143G>A	ENST00000360535.4	-	3	424	c.197C>T	c.(196-198)gCg>gTg	p.A66V	CLIP3_ENST00000593074.1_Missense_Mutation_p.A66V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	66					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTGGCACGCCGGGTCATT	0.597																																																	0													105	88	94					19																	36518143		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.197C>T	19.37:g.36518143G>A	ENSP00000353732:p.Ala66Val		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.A66V	ENST00000360535.4	37	c.197	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.294909	0.95546	.	.	ENSG00000105270	ENST00000360535;ENST00000534959	T	0.72282	-0.64	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.58172	0.834	T	0.77950	-0.2395	10	0.66056	D	0.02	-26.9485	16.1844	0.81939	0.0:0.0:1.0:0.0	.	66	Q96DZ5	CLIP3_HUMAN	V	66;42	ENSP00000353732:A66V	ENSP00000353732:A66V	A	-	2	0	CLIP3	41209983	1.000000	0.71417	0.560000	0.28344	0.985000	0.73830	7.490000	0.81461	2.684000	0.91462	0.557000	0.71058	GCG	CLIP3	-	NULL		0.597	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	G	NM_015526		36518143	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	0.998	A	A	36518143	G	A	36518143	3	1	74	1	0	0	0	0	1	0	0	0	3539	1087	38	2	1494	2	CLIP3	19	36518143	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	20623	36518143	22610840	954	11649										
ZFP14	57677	genome.wustl.edu	37	chr19	36851367	36851367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcttcttgtcccttccctcaCaaccatcccaggttccttcc	3	19	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36851367C>T	ENST00000270001.7	-	4	320	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	ZFP14_ENST00000589280.1_Missense_Mutation_p.V70M	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCTTCCCTCACAACCATCCCA	0.438																																																	0													212	164	180					19																	36851367		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.205G>A	19.37:g.36851367C>T	ENSP00000270001:p.Val69Met		A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V69M	ENST00000270001.7	37	c.205	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075164	0.20227	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.06608	3.28	3.62	2.59	0.31030	Krueppel-associated box (1);	0.828034	0.09847	N	0.748056	T	0.06188	0.0160	L	0.37800	1.135	0.24006	N	0.996192	B;B	0.21309	0.054;0.015	B;B	0.17433	0.018;0.012	T	0.32428	-0.9907	10	0.48119	T	0.1	.	7.0834	0.25244	0.0:0.8761:0.0:0.1239	.	69;69	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	M	69	ENSP00000270001:V69M	ENSP00000270001:V69M	V	-	1	0	ZFP14	41543207	0.000000	0.05858	0.955000	0.39395	0.558000	0.35554	-0.648000	0.05391	1.115000	0.41800	0.650000	0.86243	GTG	ZFP14	-	pfscan_Krueppel-associated_box		0.438	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	C	NM_020917		36851367	-1	no_errors	ENST00000270001	ensembl	human	known	70_37	missense	SNP	0.965	T	T	36851367	C	T	36851367	3	4	74	1	0	0	0	0	1	0	0	0	17669	478	17	4	1404	4	ZFP14	19	36851367	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	333224	36851367	22277616	955	11650										
ZNF260	339324	genome.wustl.edu	37	chr19	37005778	37005778	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctggtgtctgatgatggtTggcatctgaatagaaacttt	11	5	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:37005778T>A	ENST00000523638.1	-	3	1484	c.363A>T	c.(361-363)ccA>ccT	p.P121P	ZNF260_ENST00000588993.1_Silent_p.P121P|ZNF260_ENST00000592282.1_Silent_p.P121P|ZNF260_ENST00000593142.1_Silent_p.P121P	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	121					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGATGATGGTTGGCATCTGAA	0.413																																																	0													150	146	148					19																	37005778		2203	4300	6503	SO:0001819	synonymous_variant	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.363A>T	19.37:g.37005778T>A			Q0VF43	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P121	ENST00000523638.1	37	c.363	CCDS33003.1	19																																																																																			ZNF260	-	smart_Znf_C2H2-like		0.413	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	T	NM_001012756		37005778	-1	no_errors	ENST00000523638	ensembl	human	known	70_37	silent	SNP	0.027	A	A	37005778	T	A	37005778	2	1	74	1	0	0	0	0	0	0	0	1	17832	1799	63	5		5	ZNF260	19	37005778	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	154411	37005778	22123205	956	11651										
CATSPERG	57828	genome.wustl.edu	37	chr19	38857867	38857867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccttcgacatcacctacacGctggaatacagccgcctgaa	8	15	1	1	rs561919443		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:38857867G>A	ENST00000409235.3	+	23	2800	c.2685G>A	c.(2683-2685)acG>acA	p.T895T	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.T855T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	895					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCACCTACACGCTGGAATACA	0.572													G|||	1	0.000199681	0	0	5008	,	,		17642	0		0	False		,,,				2504	0.001																0													109	86	94					19																	38857867		2203	4300	6503	SO:0001819	synonymous_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2685G>A	19.37:g.38857867G>A			A6NEG6|Q659E1	Silent	SNP	NULL	p.T895	ENST00000409235.3	37	c.2685	CCDS12514.2	19																																																																																			CATSPERG	-	NULL		0.572	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	G	NM_021185		38857867	1	no_errors	ENST00000409235	ensembl	human	known	70_37	silent	SNP	0.000	A	A	38857867	G	A	38857867	2	1	74	1	0	0	0	0	0	0	0	1	2697	1074	38	2		2	CATSPERG	19	38857867	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1852089	38857867	20271116	957	11652										
PAPL	390928	genome.wustl.edu	37	chr19	39575960	39575960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tactgtctactcctgctattCtccttgggagtccaggggtc	10	12	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:39575960C>G	ENST00000331256.5	+	2	325	c.51C>G	c.(49-51)ttC>ttG	p.F17L	PAPL_ENST00000594229.1_Missense_Mutation_p.F17L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		17						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TCCTGCTATTCTCCTTGGGAG	0.597																																																	0													184	158	167					19																	39575960		2203	4300	6503	SO:0001583	missense	390928																														ENST00000331256.5:c.51C>G	19.37:g.39575960C>G	ENSP00000327557:p.Phe17Leu		B2RN68	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.F17L	ENST00000331256.5	37	c.51	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259960	0.23051	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.06	2.99	0.34606	Purple acid phosphatase-like, N-terminal (1);	0.610676	0.17107	N	0.186762	T	0.15782	0.0380	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	9	0.20046	T	0.44	-7.1284	9.0128	0.36150	0.2204:0.7796:0.0:0.0	.	17	Q6ZNF0	PAPL_HUMAN	L	17	.	ENSP00000327557:F17L	F	+	3	2	AC011443.1	44267800	0.014000	0.17966	0.005000	0.12908	0.005000	0.04900	1.903000	0.39858	1.025000	0.39708	0.462000	0.41574	TTC	PAPL	-	superfamily_Purple_acid_Pase-like_N		0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Uniprot_genename	protein_coding	OTTHUMT00000463810.1	C			39575960	1	no_errors	ENST00000331256	ensembl	human	known	70_37	missense	SNP	0.003	G	G	39575960	C	G	39575960	3	3	74	1	0	0	0	0	1	0	0	0	11451	912	32	1	53	1	PAPL	19	39575960	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	718093	39575960	19553023	958	11653										
GMFG	9535	genome.wustl.edu	37	chr19	39819686	39819686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcctgtttttactccctgcaTacatcatctgttgttccggc	7	13	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:39819686T>C	ENST00000597595.1	-	6	519	c.311A>G	c.(310-312)tAt>tGt	p.Y104C	GMFG_ENST00000600322.1_Missense_Mutation_p.Y71C|GMFG_ENST00000595636.1_Silent_p.V76V|GMFG_ENST00000602185.1_Missense_Mutation_p.Y55C|GMFG_ENST00000598034.1_Missense_Mutation_p.Y104C|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Missense_Mutation_p.Y63C|GMFG_ENST00000253054.8_Missense_Mutation_p.Y71C	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	104	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACTCCCTGCATACATCATCTG	0.542																																																	0													170	139	150					19																	39819686		2203	4300	6503	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.311A>G	19.37:g.39819686T>C	ENSP00000472249:p.Tyr104Cys		Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.Y104C	ENST00000597595.1	37	c.311	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018997	0.75275	.	.	ENSG00000130755	ENST00000253054	.	.	.	5.44	5.44	0.79542	Actin-binding, cofilin/tropomyosin type (3);	0.077961	0.51477	D	0.000086	D	0.86543	0.5958	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	D	0.90259	0.4299	9	0.87932	D	0	-10.0301	13.4296	0.61046	0.0:0.0:0.0:1.0	.	104;104	O60234;Q6IB37	GMFG_HUMAN;.	C	104	.	ENSP00000253054:Y104C	Y	-	2	0	GMFG	44511526	1.000000	0.71417	0.984000	0.44739	0.861000	0.49209	7.061000	0.76699	2.047000	0.60756	0.533000	0.62120	TAT	GMFG	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.542	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	T			39819686	-1	no_errors	ENST00000597595	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39819686	T	C	39819686	3	2	74	1	0	0	0	0	1	0	0	0	6509	1406	49	5	125	5	GMFG	19	39819686	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	243726	39819686	19309297	959	11654										
FCGBP	8857	genome.wustl.edu	37	chr19	40362851	40362851	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtcgtatacgcattggcgGaagtactcagagggactcag	14	8	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:40362851G>A	ENST00000221347.6	-	32	15226	c.15219C>T	c.(15217-15219)ttC>ttT	p.F5073F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5073						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCATTGGCGGAAGTACTCAG	0.657																																																	0													94	99	97					19																	40362851		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15219C>T	19.37:g.40362851G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F5073	ENST00000221347.6	37	c.15219	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40362851	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40362851	G	A	40362851	2	1	74	1	0	0	0	0	0	0	0	1	5796	1165	41	1		1	FCGBP	19	40362851	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	543165	40362851	18766132	960	11655										
MAP3K10	4294	genome.wustl.edu	37	chr19	40710431	40710431	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagctgctgacgggggaggtCccctaccgtgagatcgacgc	16	12	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:40710431C>T	ENST00000253055.3	+	3	1191	c.903C>T	c.(901-903)gtC>gtT	p.V301V	MAP3K10_ENST00000593906.1_3'UTR|AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGGGGGAGGTCCCCTACCGTG	0.657																																																	0													95	63	74					19																	40710431		2203	4300	6503	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.903C>T	19.37:g.40710431C>T			Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.V301	ENST00000253055.3	37	c.903	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11,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		0.657	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	C	NM_002446		40710431	1	no_errors	ENST00000253055	ensembl	human	known	70_37	silent	SNP	0.998	T	T	40710431	C	T	40710431	2	4	74	1	0	0	0	0	0	0	0	1	9267	842	30	1		1	MAP3K10	19	40710431	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	347580	40710431	18418552	961	11656										
SHKBP1	92799	genome.wustl.edu	37	chr19	41083465	41083465	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcccccctttcccgcagatCttcatcgacagggaccctac	7	18	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:41083465C>T	ENST00000291842.5	+	4	238	c.189C>T	c.(187-189)atC>atT	p.I63I	SHKBP1_ENST00000600733.1_Silent_p.I63I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	63	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCGCAGATCTTCATCGACA	0.592																																																	0													173	165	168					19																	41083465		2203	4300	6503	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.189C>T	19.37:g.41083465C>T			Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	NULL	p.S6F	ENST00000291842.5	37	c.17	CCDS12560.1	19																																																																																			SHKBP1	-	NULL		0.592	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41083465	1	no_errors	ENST00000595523	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41083465	C	T	41083465	2	4	74	1	0	0	0	0	0	0	0	1	14314	903	32	1		1	SHKBP1	19	41083465	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	373034	41083465	18045518	962	11657										
GSK3A	2931	genome.wustl.edu	37	chr19	42735003	42735003	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gactgccagtctgagctggtCggagtctcagttaaagctgg	14	9	2	1	rs372575967	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:42735003C>T	ENST00000222330.3	-	11	1522	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	GSK3A_ENST00000398249.4_Silent_p.P383P	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	465					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CTGAGCTGGTCGGAGTCTCAG	0.567													C|||	23	0.00459265	0	0	5008	,	,		14554	0		0	False		,,,				2504	0.0235																0													84	68	74					19																	42735003		2198	4288	6486	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1395G>A	19.37:g.42735003C>T			O14959	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P465	ENST00000222330.3	37	c.1395	CCDS12599.1	19																																																																																			GSK3A	-	NULL		0.567	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	C			42735003	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	silent	SNP	0.016	T	T	42735003	C	T	42735003	2	4	74	1	0	0	0	0	0	0	0	1	6843	871	31	1		1	GSK3A	19	42735003	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1651538	42735003	16393980	963	11658										
CIC	23152	genome.wustl.edu	37	chr19	42791514	42791514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagatccagttgcctctaccGcccggaaaacgtcggaccca	10	15	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:42791514G>A	ENST00000575354.2	+	4	535	c.495G>A	c.(493-495)ccG>ccA	p.P165P	CIC_ENST00000572681.2_Silent_p.P1074P|CIC_ENST00000160740.3_Silent_p.P165P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCTCTACCGCCCGGAAAAC	0.597			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													116	111	113					19																	42791514		2203	4300	6503	SO:0001819	synonymous_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.495G>A	19.37:g.42791514G>A			Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P165	ENST00000575354.2	37	c.495	CCDS12601.1	19																																																																																			CIC	-	NULL		0.597	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42791514	1	no_errors	ENST00000160740	ensembl	human	known	70_37	silent	SNP	0.991	A	A	42791514	G	A	42791514	2	1	74	1	0	0	0	0	0	0	0	1	3429	1074	38	2		2	CIC	19	42791514	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	56511	42791514	16337469	964	11659										
TMEM145	284339	genome.wustl.edu	37	chr19	42818959	42818959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccaggtggtatcagaggagGgaacccgctacctgagctgc	14	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:42818959G>A	ENST00000301204.3	+	5	417	c.376G>A	c.(376-378)Gga>Aga	p.G126R	TMEM145_ENST00000598766.1_Missense_Mutation_p.G136R|TMEM145_ENST00000601020.1_3'UTR	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	126					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ATCAGAGGAGGGAACCCGCTA	0.617																																																	0													72	72	72					19																	42818959		2203	4300	6503	SO:0001583	missense	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.376G>A	19.37:g.42818959G>A	ENSP00000301204:p.Gly126Arg			Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.G126R	ENST00000301204.3	37	c.376	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693573	0.48202	.	.	ENSG00000167619	ENST00000301204	T	0.41758	0.99	5.0	5.0	0.66597	.	0.135348	0.49305	D	0.000156	T	0.35189	0.0923	L	0.40543	1.245	0.54753	D	0.999981	P	0.44877	0.845	B	0.41813	0.367	T	0.08027	-1.0742	10	0.10902	T	0.67	-8.7533	16.1603	0.81700	0.0:0.0:1.0:0.0	.	126	Q8NBT3	TM145_HUMAN	R	126	ENSP00000301204:G126R	ENSP00000301204:G126R	G	+	1	0	TMEM145	47510799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.504000	0.53347	2.488000	0.83962	0.557000	0.71058	GGA	TMEM145	-	NULL		0.617	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42818959	1	no_errors	ENST00000301204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42818959	G	A	42818959	3	1	74	1	0	0	0	0	1	0	0	0	16089	1233	43	4	394	4	TMEM145	19	42818959	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	27445	42818959	16310024	965	11660										
PSG9	5678	genome.wustl.edu	37	chr19	43762460	43762460	+	Silent	SNP	G	G	C													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctagtaatttgggggataaaGagcttttgtcctgattgctg							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:43762460G>C	ENST00000270077.3	-	5	1233	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	PSG9_ENST00000593948.1_Silent_p.L286L|PSG9_ENST00000443718.3_Silent_p.L286L|PSG9_ENST00000244293.7_Silent_p.L286L|PSG9_ENST00000418820.2_Silent_p.L286L|PSG9_ENST00000596730.1_Silent_p.L193L|PSG9_ENST00000291752.5_Silent_p.L193L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	379	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGGGATAAAGAGCTTTTGTC	0.443																																																	0													145	175	165					19																	43762460		2140	4282	6422	SO:0001819	synonymous_variant	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1137C>G	19.37:g.43762460G>C			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L379	ENST00000270077.3	37	c.1137	CCDS12618.1	19																																																																																			PSG9	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	G	NM_002784		43762460	-1	no_errors	ENST00000270077	ensembl	human	known	70_37	silent	SNP	0.001	C	C	43762460	G	C	43762460	2	2	74	1	0	0	0	0	0	0	0	1	12689	929	33	1		1	PSG9	19	43762460	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	943501	43762460	15366523	966	11661	61	2								
PSG9	5678	genome.wustl.edu	37	chr19	43762463	43762463	+	Missense_Mutation	SNP	C	C	G													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtaatttgggggataaagagCttttgtcctgattgctgaaa							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:43762463C>G	ENST00000270077.3	-	5	1230	c.1134G>C	c.(1132-1134)aaG>aaC	p.K378N	PSG9_ENST00000593948.1_Missense_Mutation_p.K285N|PSG9_ENST00000443718.3_Missense_Mutation_p.K285N|PSG9_ENST00000244293.7_Missense_Mutation_p.K285N|PSG9_ENST00000418820.2_Missense_Mutation_p.K285N|PSG9_ENST00000596730.1_Missense_Mutation_p.K192N|PSG9_ENST00000291752.5_Missense_Mutation_p.K192N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	378	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGATAAAGAGCTTTTGTCCTG	0.443																																																	0													145	176	166					19																	43762463		2141	4281	6422	SO:0001583	missense	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1134G>C	19.37:g.43762463C>G	ENSP00000270077:p.Lys378Asn		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K378N	ENST00000270077.3	37	c.1134	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	3.726	-0.056588	0.07362	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	1.58	0.14	0.14804	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05318	0.0141	N	0.16130	0.375	0.09310	N	1	B;B;B;B;B;B	0.17038	0.004;0.001;0.001;0.02;0.002;0.005	B;B;B;B;B;B	0.17979	0.013;0.013;0.008;0.004;0.02;0.02	T	0.41787	-0.9489	9	0.27082	T	0.32	.	4.2736	0.10797	0.3937:0.6063:0.0:0.0	.	285;234;285;192;378;378	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	N	378;192;285;339;285	ENSP00000270077:K378N;ENSP00000291752:K192N;ENSP00000396753:K285N;ENSP00000244293:K285N	ENSP00000244293:K285N	K	-	3	2	PSG9	48454303	0.001000	0.12720	0.019000	0.16419	0.004000	0.04260	0.500000	0.22562	0.856000	0.35383	0.194000	0.17425	AAG	PSG9	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	C	NM_002784		43762463	-1	no_errors	ENST00000270077	ensembl	human	known	70_37	missense	SNP	0.001	G	G	43762463	C	G	43762463	3	3	74	1	0	0	0	0	1	0	0	0	12689	796	28	4	154	4	PSG9	19	43762463	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3	43762463	15366520	967	11662	61	2								
IRGC	56269	genome.wustl.edu	37	chr19	44222854	44222854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacctccaggagctgctggcCtccacggaaagcatccgcct	10	17	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:44222854C>T	ENST00000244314.5	+	2	343	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	48						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGCTGCTGGCCTCCACGGAAA	0.677																																					Colon(189;350 2037 11447 13433 38914)												0													35	41	39					19																	44222854		2203	4298	6501	SO:0001819	synonymous_variant	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.144C>T	19.37:g.44222854C>T			Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase	p.A48	ENST00000244314.5	37	c.144	CCDS12629.1	19																																																																																			IRGC	-	pfam_Interferon-induced_GTPase		0.677	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	C	NM_019612		44222854	1	no_errors	ENST00000244314	ensembl	human	known	70_37	silent	SNP	0.598	T	T	44222854	C	T	44222854	2	4	74	1	0	0	0	0	0	0	0	1	7858	668	24	4		4	IRGC	19	44222854	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	460391	44222854	14906129	968	11663										
ZNF233	353355	genome.wustl.edu	37	chr19	44777426	44777426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcagcaaattgatgtaaaaAataagctctgtaaatgtgat	8	4	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:44777426A>C	ENST00000391958.2	+	5	740	c.613A>C	c.(613-615)Aat>Cat	p.N205H	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TGATGTAAAAAATAAGCTCTG	0.378																																																	0													62	60	61					19																	44777426		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.613A>C	19.37:g.44777426A>C	ENSP00000375820:p.Asn205His		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N205H	ENST00000391958.2	37	c.613	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337148	0.60963	.	.	ENSG00000159915	ENST00000391958;ENST00000280305	T	0.05447	3.44	3.51	1.32	0.21799	.	.	.	.	.	T	0.08537	0.0212	L	0.58101	1.795	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.24476	-1.0159	9	0.66056	D	0.02	-0.1237	4.1234	0.10116	0.7138:0.0:0.1068:0.1793	.	205	A6NK53	ZN233_HUMAN	H	205;126	ENSP00000375820:N205H	ENSP00000280305:N126H	N	+	1	0	ZNF233	49469266	0.000000	0.05858	0.004000	0.12327	0.868000	0.49771	-0.226000	0.09139	0.079000	0.16929	0.421000	0.28195	AAT	ZNF233	-	NULL		0.378	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	A	NM_181756		44777426	1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	0.019	C	C	44777426	A	C	44777426	3	2	74	1	0	0	0	0	1	0	0	0	17816	14	1	5	627	5	ZNF233	19	44777426	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	554572	44777426	14351557	969	11664										
PPM1N	147699	genome.wustl.edu	37	chr19	46002355	46002355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccttcgaccccgggaacgcGagcgcatccacgccgctggc	12	19	0	0	rs367762624		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46002355G>C	ENST00000451287.2	+	1	625	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	RTN2_ENST00000344680.4_5'Flank|RTN2_ENST00000590526.1_5'Flank|PPM1N_ENST00000401593.1_5'Flank|PPM1N_ENST00000324688.4_Missense_Mutation_p.E131Q|PPM1N_ENST00000396735.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000396736.2_5'Flank|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000401705.1_Intron	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	209	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CCGGGAACGCGAGCGCATCCA	0.726																																																	0													7	9	8					19																	46002355		1857	4001	5858	SO:0001583	missense	147699			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.625G>C	19.37:g.46002355G>C	ENSP00000397050:p.Glu209Gln		Q6P662	Missense_Mutation	SNP	pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like	p.E209Q	ENST00000451287.2	37	c.625	CCDS46115.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240246	0.79912	.	.	ENSG00000213889	ENST00000451287;ENST00000396734;ENST00000324688	T;T	0.18960	2.18;2.18	3.95	2.89	0.33648	Protein phosphatase 2C-like (5);	0.000000	0.64402	U	0.000004	T	0.23451	0.0567	L	0.38838	1.175	0.53688	D	0.999978	P	0.38048	0.616	P	0.45998	0.5	T	0.05435	-1.0885	10	0.56958	D	0.05	-14.0454	11.835	0.52319	0.0:0.1788:0.8212:0.0	.	209	Q8N819	PPM1N_HUMAN	Q	209;209;131	ENSP00000397050:E209Q;ENSP00000321761:E131Q	ENSP00000321761:E131Q	E	+	1	0	PPM1N	50694195	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.161000	0.71868	1.243000	0.43853	0.313000	0.20887	GAG	PPM1N	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.726	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PPM1N	HGNC	protein_coding	OTTHUMT00000326517.2	G	NM_001080401		46002355	1	no_errors	ENST00000451287	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46002355	G	C	46002355	3	2	74	1	0	0	0	0	1	0	0	0	12373	1059	37	1	627	1	PPM1N	19	46002355	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1224929	46002355	13126628	970	11665										
QPCTL	54814	genome.wustl.edu	37	chr19	46206302	46206302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcctggctgaatacctggggCtctagcgtgcttggccaatg	13	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46206302C>T	ENST00000012049.5	+	7	1365	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	QPCTL_ENST00000366382.4_Missense_Mutation_p.L288F	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	382					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ATACCTGGGGCTCTAGCGTGC	0.602																																																	0													126	85	99					19																	46206302		2203	4300	6503	SO:0001583	missense	54814			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.1144C>T	19.37:g.46206302C>T	ENSP00000012049:p.Leu382Phe		Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.L382F	ENST00000012049.5	37	c.1144	CCDS12672.1	19	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700639	0.48307	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.28069	1.63;1.78	5.71	5.71	0.89125	.	0.125827	0.53938	D	0.000045	T	0.42223	0.1193	M	0.77820	2.39	0.51482	D	0.999926	D	0.56968	0.978	P	0.45506	0.483	T	0.49263	-0.8958	10	0.87932	D	0	-3.7303	15.3678	0.74538	0.0:1.0:0.0:0.0	.	382	Q9NXS2	QPCTL_HUMAN	F	382;288	ENSP00000012049:L382F;ENSP00000387944:L288F	ENSP00000012049:L382F	L	+	1	0	QPCTL	50898142	0.996000	0.38824	1.000000	0.80357	0.620000	0.37586	2.683000	0.46943	2.709000	0.92574	0.655000	0.94253	CTC	QPCTL	-	NULL		0.602	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	C	NM_017659		46206302	1	no_errors	ENST00000012049	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46206302	C	T	46206302	3	4	74	1	0	0	0	0	1	0	0	0	12905	797	28	4	1170	4	QPCTL	19	46206302	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	203947	46206302	12922681	971	11666										
CCDC61	729440	genome.wustl.edu	37	chr19	46520259	46520259	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctccctctagtggacagtttCcgcagccgctgctcgtctgc	10	16	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46520259C>T	ENST00000595358.1	+	11	1291	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	CCDC61_ENST00000536603.1_Silent_p.F234F|CCDC61_ENST00000263284.2_Silent_p.F433F|MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000594087.1_Silent_p.F234F	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	414						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TGGACAGTTTCCGCAGCCGCT	0.647											OREG0025565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18	19	19					19																	46520259		1900	4122	6022	SO:0001819	synonymous_variant	729440				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.1242C>T	19.37:g.46520259C>T		939	C8CAP4|Q9HDB6	Silent	SNP	NULL	p.F433	ENST00000595358.1	37	c.1299	CCDS46120.2	19																																																																																			CCDC61	-	NULL		0.647	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	C	NM_001080402		46520259	1	no_errors	ENST00000263284	ensembl	human	known	70_37	silent	SNP	0.998	T	T	46520259	C	T	46520259	2	4	74	1	0	0	0	0	0	0	0	1	2837	854	30	1		1	CCDC61	19	46520259	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	313957	46520259	12608724	972	11667										
FKRP	79147	genome.wustl.edu	37	chr19	47259271	47259272	+	Frame_Shift_Ins	INS	-	-	C													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atggcgcagcccccgccgcgINSccccgctgcgacgccctgga							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:47259271_47259272insC	ENST00000318584.5	+	4	861_862	c.564_565insC	c.(565-567)cccfs	p.P189fs	FKRP_ENST00000391909.3_Frame_Shift_Ins_p.P189fs|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	189					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCCCCGCCGCGCCCCGCTGCGA	0.752																																																	0																																										SO:0001589	frameshift_variant	79147			AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.568dupC	19.37:g.47259275_47259275dupC	ENSP00000326570:p.Pro189fs		A8K5G7	Frame_Shift_Ins	INS	pfam_LicD	p.R189fs	ENST00000318584.5	37	c.564_565	CCDS12691.1	19																																																																																			FKRP	-	NULL		0.752	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKRP	HGNC	protein_coding	OTTHUMT00000465473.1	-	NM_024301		47259272	1	no_errors	ENST00000318584	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.062	C	C	47259272	-	C	47259271	7	5	74	1	0	1	1	0	0	0	0	0	5935	1074	38	0	566	0	FKRP	19	47259271	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	739012	47259271	11869712	973	11668										
FAM83E	54854	genome.wustl.edu	37	chr19	49116504	49116504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caggtctggaacgcctccgcGcccttgctcaacagagcctc	10	17	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:49116504G>A	ENST00000263266.3	-	1	315	c.126C>T	c.(124-126)ggC>ggT	p.G42G	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	42										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACGCCTCCGCGCCCTTGCTCA	0.667																																																	0													17	21	19					19																	49116504		2056	4206	6262	SO:0001819	synonymous_variant	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.126C>T	19.37:g.49116504G>A			Q9NXK1	Silent	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.G42	ENST00000263266.3	37	c.126	CCDS42587.1	19																																																																																			FAM83E	-	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase		0.667	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	G	NM_017708		49116504	-1	no_errors	ENST00000263266	ensembl	human	known	70_37	silent	SNP	0.000	A	A	49116504	G	A	49116504	2	1	74	1	0	0	0	0	0	0	0	1	5655	1074	38	2		2	FAM83E	19	49116504	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1857233	49116504	10012479	974	11669										
TULP2	7288	genome.wustl.edu	37	chr19	49392834	49392834	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtttggtcccatattgggtGacttgtgtgcatctcccata	11	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:49392834G>T	ENST00000221399.3	-	7	713	c.569C>A	c.(568-570)tCa>tAa	p.S190*		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	190					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CATATTGGGTGACTTGTGTGC	0.468																																																	0													202	161	175					19																	49392834		2203	4300	6503	SO:0001587	stop_gained	7288			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.569C>A	19.37:g.49392834G>T	ENSP00000221399:p.Ser190*		Q8TC50	Nonsense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.S190*	ENST00000221399.3	37	c.569	CCDS12739.1	19	.	.	.	.	.	.	.	.	.	.	G	6.068	0.380935	0.11466	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977	.	.	.	3.28	-6.55	0.01854	.	8.198860	0.00166	N	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	4.1471	1.3063	0.02089	0.3385:0.098:0.1419:0.4217	.	.	.	.	X	190;144;187;171	.	ENSP00000221399:S190X	S	-	2	0	TULP2	54084646	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.829000	0.00356	-3.295000	0.00194	-0.745000	0.03516	TCA	TULP2	-	NULL		0.468	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	G	NM_003323		49392834	-1	no_errors	ENST00000221399	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	49392834	G	T	49392834	4	4	74	1	0	0	0	0	0	1	0	0	16805	1294	45	3	1021	3	TULP2	19	49392834	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	276330	49392834	9736149	975	11670										
PPFIA3	8541	genome.wustl.edu	37	chr19	49632669	49632669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgcggatggcgctggagcgCgtggcagtgctcgaggagga	20	9	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:49632669C>T	ENST00000334186.4	+	5	889	c.540C>T	c.(538-540)cgC>cgT	p.R180R	PPFIA3_ENST00000602351.1_Silent_p.R180R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	180					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGCTGGAGCGCGTGGCAGTGC	0.632																																																	0													13	14	14					19																	49632669		2117	4151	6268	SO:0001819	synonymous_variant	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.540C>T	19.37:g.49632669C>T			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R180	ENST00000334186.4	37	c.540	CCDS12758.1	19																																																																																			PPFIA3	-	NULL		0.632	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	C	NM_003660		49632669	1	no_errors	ENST00000334186	ensembl	human	known	70_37	silent	SNP	0.699	T	T	49632669	C	T	49632669	2	4	74	1	0	0	0	0	0	0	0	1	12335	755	27	2		2	PPFIA3	19	49632669	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	239835	49632669	9496314	976	11671										
PRR12	57479	genome.wustl.edu	37	chr19	50100877	50100877	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagacccccaagaagctgtaCgcccaggagtacgagttcga	11	13	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:50100877C>A	ENST00000418929.2	+	4	3297	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAAGCTGTACGCCCAGGAGT	0.637																																																	0													11	14	13					19																	50100877		2076	4172	6248	SO:0001587	stop_gained	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3285C>A	19.37:g.50100877C>A	ENSP00000394510:p.Tyr1095*		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.Y1095*	ENST00000418929.2	37	c.3285	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.829901	0.98513	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.43	-7.83	0.01201	.	0.000000	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.49	15.9318	0.79668	0.0:0.2072:0.0:0.7928	.	.	.	.	X	1095;275;275	.	ENSP00000246798:Y275X	Y	+	3	2	PRR12	54792689	0.000000	0.05858	0.751000	0.31187	0.986000	0.74619	-4.567000	0.00214	-1.523000	0.01767	0.491000	0.48974	TAC	PRR12	-	NULL		0.637	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50100877	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	nonsense	SNP	0.795	A	A	50100877	C	A	50100877	4	1	74	1	0	0	0	0	0	1	0	0	12611	547	19	2	3299	2	PRR12	19	50100877	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	468208	50100877	9028106	977	11672										
POLD1	5424	genome.wustl.edu	37	chr19	50910593	50910593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcccctcccaggccatgcacGaggggctgctgatgcccgtg	13	16	0	1	rs372429157		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:50910593G>A	ENST00000440232.2	+	14	1749	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	POLD1_ENST00000599857.1_Missense_Mutation_p.E566K|POLD1_ENST00000595904.1_Missense_Mutation_p.E566K	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	566					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCATGCACGAGGGGCTGCT	0.632								DNA polymerases (catalytic subunits)																																									0								G	LYS/GLU	0,4404		0,0,2202	39	30	33		1696	-0.3	0.9	19		33	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLD1	NM_002691.2	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	566/1108	50910593	1,13003	2202	4300	6502	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1696G>A	19.37:g.50910593G>A	ENSP00000406046:p.Glu566Lys		Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.E566K	ENST00000440232.2	37	c.1696	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	4.588	0.109340	0.08780	0.0	1.16E-4	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.17854	2.25	3.92	-0.33	0.12683	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.481200	0.21336	N	0.076216	T	0.06280	0.0162	N	0.02751	-0.505	0.32500	N	0.539035	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.004	T	0.40850	-0.9541	10	0.02654	T	1	-17.1813	16.6191	0.84925	0.0:0.8061:0.1939:0.0	.	566;566	E7EVW0;P28340	.;DPOD1_HUMAN	K	566;567	ENSP00000406046:E566K	ENSP00000366129:E567K	E	+	1	0	POLD1	55602405	0.815000	0.29118	0.892000	0.35008	0.581000	0.36288	0.979000	0.29500	0.040000	0.15660	0.462000	0.41574	GAG	POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B		0.632	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	G			50910593	1	no_errors	ENST00000440232	ensembl	human	known	70_37	missense	SNP	0.995	A	A	50910593	G	A	50910593	3	1	74	1	0	0	0	0	1	0	0	0	12214	1059	37	1	1746	1	POLD1	19	50910593	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	809716	50910593	8218390	978	11673										
MYBPC2	4606	genome.wustl.edu	37	chr19	50958852	50958852	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggaggcctccgaacaggatCggggcaggtggcatcgatgg	18	9	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:50958852C>T	ENST00000357701.5	+	20	2340	c.2289C>T	c.(2287-2289)atC>atT	p.I763I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	763	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGAACAGGATCGGGGCAGGTG	0.612																																																	0													79	85	83					19																	50958852		2040	4193	6233	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2289C>T	19.37:g.50958852C>T			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I763	ENST00000357701.5	37	c.2289	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50958852	1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.906	T	T	50958852	C	T	50958852	2	4	74	1	0	0	0	0	0	0	0	1	10035	874	31	1		1	MYBPC2	19	50958852	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	48259	50958852	8170131	979	11674										
KLK4	9622	genome.wustl.edu	37	chr19	51410259	51410259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttggtgtagacacctggcacGccaacttggccacacggggc	13	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51410259G>A	ENST00000324041.1	-	5	695	c.696C>T	c.(694-696)ggC>ggT	p.G232G	KLK4_ENST00000431178.2_3'UTR|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CACCTGGCACGCCAACTTGGC	0.557																																																	0													99	98	98					19																	51410259		2203	4300	6503	SO:0001819	synonymous_variant	9622			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.696C>T	19.37:g.51410259G>A			Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G232	ENST00000324041.1	37	c.696	CCDS12809.1	19																																																																																			KLK4	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.557	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1	G	NM_004917		51410259	-1	no_errors	ENST00000324041	ensembl	human	known	70_37	silent	SNP	0.000	A	A	51410259	G	A	51410259	2	1	74	1	0	0	0	0	0	0	0	1	8426	1074	38	2		2	KLK4	19	51410259	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	451407	51410259	7718724	980	11675										
KLK8	11202	genome.wustl.edu	37	chr19	51499381	51499381	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagatgttggtatagacgccAggtttgtcggacctcccaca	11	11	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51499381A>T	ENST00000600767.1	-	7	1206	c.717T>A	c.(715-717)ccT>ccA	p.P239P	KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Silent_p.P98P|KLK8_ENST00000291726.7_Silent_p.P239P|KLK8_ENST00000391806.2_Silent_p.P284P			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TATAGACGCCAGGTTTGTCGG	0.547																																																	0													170	157	161					19																	51499381		2203	4300	6503	SO:0001819	synonymous_variant	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.717T>A	19.37:g.51499381A>T			Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P284	ENST00000600767.1	37	c.852	CCDS12813.1	19																																																																																			KLK8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.547	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	A	NM_007196		51499381	-1	no_errors	ENST00000391806	ensembl	human	known	70_37	silent	SNP	0.982	T	T	51499381	A	T	51499381	2	4	74	1	0	0	0	0	0	0	0	1	8430	175	7	5		5	KLK8	19	51499381	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	89122	51499381	7629602	981	11676										
KLK12	43849	genome.wustl.edu	37	chr19	51535321	51535321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggatgggtcacagagaagcCgctgtgccggatctgctcgg	17	10	2	1	rs563322085		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51535321C>T	ENST00000525263.1	-	3	387	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	KLK12_ENST00000250351.4_Missense_Mutation_p.G90S|KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.G90S|KLK12_ENST00000250352.11_Intron			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACAGAGAAGCCGCTGTGCCGG	0.701													C|||	1	0.000199681	0	0	5008	,	,		12059	0		0.001	False		,,,				2504	0																0													31	23	26					19																	51535321		2202	4298	6500	SO:0001583	missense	43849				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.268G>A	19.37:g.51535321C>T	ENSP00000436458:p.Gly90Ser		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G90S	ENST00000525263.1	37	c.268	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	c	0.331	-0.956009	0.02267	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250351	D;D;D	0.87650	-2.28;-2.28;-2.28	4.07	0.662	0.17880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.612418	0.13664	N	0.371359	T	0.50377	0.1612	N	0.00242	-1.785	0.18873	N	0.999989	B;B	0.13594	0.008;0.001	B;B	0.09377	0.004;0.002	T	0.56553	-0.7960	10	0.02654	T	1	.	3.6914	0.08347	0.0:0.4893:0.1878:0.3229	.	90;90	Q9UKR0-2;Q9UKR0	.;KLK12_HUMAN	S	90	ENSP00000436458:G90S;ENSP00000324181:G90S;ENSP00000250351:G90S	ENSP00000250351:G90S	G	-	1	0	KLK12	56227133	0.000000	0.05858	0.739000	0.30968	0.184000	0.23303	-0.236000	0.09003	0.133000	0.18654	-0.846000	0.03041	GGC	KLK12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.701	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	C	NM_019598		51535321	-1	no_errors	ENST00000250351	ensembl	human	known	70_37	missense	SNP	0.218	T	T	51535321	C	T	51535321	3	4	74	1	0	0	0	0	1	0	0	0	8420	652	23	2	552	2	KLK12	19	51535321	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	35940	51535321	7593662	982	11677										
ETFB	2109	genome.wustl.edu	37	chr19	51857829	51857829	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tactgttgtcactgctcctcTcaggcctgaaagagtgtttc	9	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51857829T>G	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Silent_p.R22R|CTD-2616J11.11_ENST00000600067.1_Intron	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACTGCTCCTCTCAGGCCTGAA	0.448																																																	0													81	82	82					19																	51857829		2203	4300	6503	SO:0001627	intron_variant	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-267A>C	19.37:g.51857829T>G			A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.R22	ENST00000309244.4	37	c.64	CCDS12828.1	19																																																																																			ETFB	-	NULL		0.448	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	T			51857829	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	silent	SNP	0.001	G	G	51857829	T	G	51857829	1	3	74	0	1	0	0	0	0	0	0	0	5282	1559	54	5		5	ETFB	19	51857829	Intron	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	322508	51857829	7271154	983	11678										
SIGLEC12	89858	genome.wustl.edu	37	chr19	52003582	52003582	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaaacgagggtcagcccagcCcccactgtccctctcttcat	8	17	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52003582C>A	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G16C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCAGCCCAGCCCCCACTGTCC	0.607																																																	0													39	35	36					19																	52003582		2203	4300	6503	SO:0001627	intron_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-28G>T	19.37:g.52003582C>A			Q8IYH7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G16C	ENST00000291707.3	37	c.46	CCDS12833.1	19																																																																																			SIGLEC12	-	NULL		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	C	NM_053003		52003582	-1	no_errors	ENST00000598614	ensembl	human	putative	70_37	missense	SNP	0.005	A	A	52003582	C	A	52003582	1	1	74	0	1	0	0	0	0	0	0	0	14338	623	22	4		4	SIGLEC12	19	52003582	Intron	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	145753	52003582	7125401	984	11679										
FPR2	2358	genome.wustl.edu	37	chr19	52272492	52272492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaggagaggctgaaggtggCcattaccatgctgacagcca	14	9	0	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52272492C>T	ENST00000598776.1	+	2	1353	c.581C>T	c.(580-582)gCc>gTc	p.A194V	FPR2_ENST00000340023.6_Missense_Mutation_p.A194V|FPR2_ENST00000598953.1_Missense_Mutation_p.A194V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	194					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGAAGGTGGCCATTACCATG	0.493																																																	0													148	128	135					19																	52272492		2203	4300	6503	SO:0001583	missense	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.581C>T	19.37:g.52272492C>T	ENSP00000468897:p.Ala194Val		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.A194V	ENST00000598776.1	37	c.581	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	9.534	1.111482	0.20714	.	.	ENSG00000171049	ENST00000340023	T	0.68903	-0.36	3.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.789788	0.10613	U	0.654252	T	0.53802	0.1819	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.40997	-0.9533	10	0.30078	T	0.28	.	6.308	0.21149	0.0:0.6881:0.1875:0.1244	.	194	P25090	FPR2_HUMAN	V	194	ENSP00000340191:A194V	ENSP00000340191:A194V	A	+	2	0	FPR2	56964304	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.634000	0.24614	0.889000	0.36185	0.491000	0.48974	GCC	FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	C	NM_001005738		52272492	1	no_errors	ENST00000340023	ensembl	human	known	70_37	missense	SNP	0.007	T	T	52272492	C	T	52272492	3	4	74	1	0	0	0	0	1	0	0	0	6057	739	26	4	583	4	FPR2	19	52272492	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	268910	52272492	6856491	985	11680										
ZNF841	284371	genome.wustl.edu	37	chr19	52568470	52568470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgtttagtgaggcctgagcGactaatgtaagatttgccac	11	7	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52568470G>A	ENST00000426391.2	-	5	2868	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	ZNF841_ENST00000594295.1_Missense_Mutation_p.R889C|ZNF841_ENST00000389534.4_Missense_Mutation_p.R889C|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.R465C|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGCCTGAGCGACTAATGTAA	0.428																																																	0													251	205	219					19																	52568470		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2317C>T	19.37:g.52568470G>A	ENSP00000415453:p.Arg773Cys		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R889C	ENST00000426391.2	37	c.2665		19	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413383	0.25465	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.61510	0.1;0.1;0.1	1.69	-3.37	0.04898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	B;D;B	0.76494	0.026;0.999;0.015	B;B;B	0.41646	0.002;0.362;0.001	T	0.19877	-1.0292	9	0.42905	T	0.14	.	1.0109	0.01497	0.1445:0.1973:0.3144:0.3438	.	889;465;773	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	C	889;773;465	ENSP00000374185:R889C;ENSP00000415453:R773C;ENSP00000353060:R465C	ENSP00000353060:R465C	R	-	1	0	ZNF841	57260282	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-3.777000	0.00369	-2.030000	0.00929	0.313000	0.20887	CGC	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52568470	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	missense	SNP	0.000	A	A	52568470	G	A	52568470	3	1	74	1	0	0	0	0	1	0	0	0	18219	1058	37	1	113	1	ZNF841	19	52568470	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	295978	52568470	6560513	986	11681										
ZNF841	284371	genome.wustl.edu	37	chr19	52569670	52569670	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actgaagaccttgccacattCattacatttgtagggtttct	7	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52569670C>T	ENST00000426391.2	-	5	1668	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	ZNF841_ENST00000594295.1_Missense_Mutation_p.E489K|ZNF841_ENST00000389534.4_Missense_Mutation_p.E489K|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTGCCACATTCATTACATTTG	0.418																																																	0													43	38	40					19																	52569670		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1117G>A	19.37:g.52569670C>T	ENSP00000415453:p.Glu373Lys		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E489K	ENST00000426391.2	37	c.1465		19	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607588	0.28623	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.07327	3.2;3.2	2.41	-4.81	0.03180	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17764	0.52	0.09310	N	1	B;P	0.41393	0.001;0.748	B;B	0.43809	0.005;0.432	T	0.25984	-1.0116	9	0.56958	D	0.05	.	5.7091	0.17925	0.418:0.4762:0.0:0.1058	.	489;373	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	K	489;373	ENSP00000374185:E489K;ENSP00000415453:E373K	ENSP00000374185:E489K	E	-	1	0	ZNF841	57261482	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.319000	0.08039	-1.067000	0.03160	0.313000	0.20887	GAA	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	C	XM_209155		52569670	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	missense	SNP	0.000	T	T	52569670	C	T	52569670	3	4	74	1	0	0	0	0	1	0	0	0	18219	835	29	1	1313	1	ZNF841	19	52569670	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1200	52569670	6559313	987	11682										
ZNF808	388558	genome.wustl.edu	37	chr19	53058742	53058742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atgtgacaaagttttcagtcGcaaatcacaccttaaaagac	6	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:53058742G>A	ENST00000359798.4	+	5	2753	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	858					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTTTTCAGTCGCAAATCACAC	0.378																																																	0													86	90	88					19																	53058742		2203	4300	6503	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2573G>A	19.37:g.53058742G>A	ENSP00000352846:p.Arg858His		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R858H	ENST00000359798.4	37	c.2573	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	1.329	-0.597365	0.03771	.	.	ENSG00000198482	ENST00000359798	T	0.07327	3.2	1.51	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	L	0.28192	0.835	0.09310	N	1	B	0.28400	0.21	B	0.13407	0.009	T	0.45071	-0.9286	9	0.15066	T	0.55	.	2.9619	0.05895	0.6174:0.0:0.1693:0.2133	.	858	Q8N4W9	ZN808_HUMAN	H	858	ENSP00000352846:R858H	ENSP00000352846:R858H	R	+	2	0	ZNF808	57750554	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-5.190000	0.00143	-0.108000	0.12066	0.205000	0.17691	CGC	ZNF808	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	G	NM_001039886		53058742	1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.000	A	A	53058742	G	A	53058742	3	1	74	1	0	0	0	0	1	0	0	0	18203	1087	38	2	2583	2	ZNF808	19	53058742	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	489072	53058742	6070241	988	11683										
BIRC8	112401	genome.wustl.edu	37	chr19	53793036	53793036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaaggaataaaaacaacagCgatatgtctgtccatgcaga	8	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:53793036C>T	ENST00000426466.1	-	1	1839	c.592G>A	c.(592-594)Gct>Act	p.A198T		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	198					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAAACAACAGCGATATGTCTG	0.443																																																	0													112	112	112					19																	53793036		2203	4300	6503	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.592G>A	19.37:g.53793036C>T	ENSP00000412957:p.Ala198Thr		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.A198T	ENST00000426466.1	37	c.592	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	C	6.835	0.523270	0.13066	.	.	ENSG00000163098	ENST00000426466	T	0.77877	-1.13	0.502	0.502	0.16932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.49983	0.1589	N	0.05554	-0.025	0.09310	N	1	P	0.41784	0.762	B	0.36719	0.231	T	0.41805	-0.9488	9	0.22109	T	0.4	-7.1867	3.6066	0.08045	0.4382:0.5617:1.0E-4:0.0	.	198	Q96P09	BIRC8_HUMAN	T	198	ENSP00000412957:A198T	ENSP00000412957:A198T	A	-	1	0	BIRC8	58484848	0.051000	0.20477	0.108000	0.21378	0.019000	0.09904	0.132000	0.15891	0.578000	0.29487	0.420000	0.28162	GCT	BIRC8	-	smart_Znf_RING,pfscan_Znf_RING		0.443	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	C	NM_033341		53793036	-1	no_errors	ENST00000426466	ensembl	human	known	70_37	missense	SNP	0.003	T	T	53793036	C	T	53793036	3	4	74	1	0	0	0	0	1	0	0	0	1441	768	27	2	122	2	BIRC8	19	53793036	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	734294	53793036	5335947	989	11684										
ZNF761	388561	genome.wustl.edu	37	chr19	53958029	53958029	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagatttttgctaccaggatGttgataaagatattcatgac	9	5	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:53958029G>A	ENST00000454407.1	+	0	721							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTACCAGGATGTTGATAAAGA	0.388																																																	0													80	79	80					19																	53958029		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958029G>A			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.388	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53958029	1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.011	A	A	53958029	G	A	53958029	1	1	74	0	1	0	0	0	0	0	0	0	18166	1377	48	4		4	ZNF761	19	53958029	RNA	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	164993	53958029	5170954	990	11685										
VSTM1	284415	genome.wustl.edu	37	chr19	54544289	54544289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaagctgcctcagacagggCgctggtgcttagctcagcat	13	11	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54544289C>T	ENST00000338372.2	-	9	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T|VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	213					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAGACAGGGCGCTGGTGCTT	0.517																																																	0													54	50	51					19																	54544289		2203	4300	6503	SO:0001583	missense	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.637G>A	19.37:g.54544289C>T	ENSP00000343366:p.Ala213Thr		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.A213T	ENST00000338372.2	37	c.637	CCDS12872.1	19	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215136	0.09810	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.53640	1.95;6.86;5.64;0.61	2.67	0.505	0.16953	.	.	.	.	.	T	0.18882	0.0453	N	0.17082	0.46	0.09310	N	1	P;P	0.42871	0.572;0.792	B;B	0.22880	0.042;0.023	T	0.11991	-1.0565	9	0.20046	T	0.44	.	4.9295	0.13910	0.0:0.7045:0.0:0.2955	.	182;213	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	103;213;182;125	ENSP00000409412:A103T;ENSP00000343366:A213T;ENSP00000365813:A182T;ENSP00000444153:A125T	ENSP00000343366:A213T	A	-	1	0	VSTM1	59236101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.595000	0.05727	0.222000	0.20900	0.585000	0.79938	GCC	VSTM1	-	NULL		0.517	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3	C	NM_198481		54544289	-1	no_errors	ENST00000338372	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54544289	C	T	54544289	3	4	74	1	0	0	0	0	1	0	0	0	17259	768	27	2	77	2	VSTM1	19	54544289	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	586260	54544289	4584694	991	11686										
CNOT3	4849	genome.wustl.edu	37	chr19	54646905	54646905	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccgagggcgtggagcagtttGaagatatttggcagaaggta	16	5	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54646905G>C	ENST00000406403.1	+	2	1679	c.76G>C	c.(76-78)Gaa>Caa	p.E26Q	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E26Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	26					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGCAGTTTGAAGATATTTG	0.562																																																	0													152	152	152					19																	54646905		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.76G>C	19.37:g.54646905G>C	ENSP00000383954:p.Glu26Gln		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E26Q	ENST00000406403.1	37	c.76	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035987	0.93630	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.55588	0.51;0.51	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.995	T	0.69273	-0.5188	10	0.72032	D	0.01	-18.3582	17.5375	0.87837	0.0:0.0:1.0:0.0	.	26;26	B7Z6J7;O75175	.;CNOT3_HUMAN	Q	26	ENSP00000221232:E26Q;ENSP00000383954:E26Q	ENSP00000221232:E26Q	E	+	1	0	CNOT3	59338717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.786000	0.91826	2.512000	0.84698	0.655000	0.94253	GAA	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5		0.562	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	G	NM_014516		54646905	1	no_errors	ENST00000221232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54646905	G	C	54646905	3	2	74	1	0	0	0	0	1	0	0	0	3625	1291	45	1	82	1	CNOT3	19	54646905	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	102616	54646905	4482078	992	11687										
TTYH1	57348	genome.wustl.edu	37	chr19	54932529	54932529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctcagctctgcgctgctgcaCgccaaccacacactcagcac	7	19	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54932529C>T	ENST00000376530.3	+	3	487	c.384C>T	c.(382-384)caC>caT	p.H128H	TTYH1_ENST00000301194.4_Silent_p.H128H|TTYH1_ENST00000376531.3_Silent_p.H128H|TTYH1_ENST00000391739.3_Silent_p.H177H	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	128					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CGCTGCTGCACGCCAACCACA	0.622																																																	0													124	101	109					19																	54932529		2203	4300	6503	SO:0001819	synonymous_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.384C>T	19.37:g.54932529C>T			B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	pfam_Tweety	p.H128	ENST00000376530.3	37	c.384	CCDS12893.1	19																																																																																			TTYH1	-	pfam_Tweety		0.622	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54932529	1	no_errors	ENST00000376531	ensembl	human	known	70_37	silent	SNP	0.717	T	T	54932529	C	T	54932529	2	4	74	1	0	0	0	0	0	0	0	1	16770	535	19	2		2	TTYH1	19	54932529	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	285624	54932529	4196454	993	11688										
EPN1	29924	genome.wustl.edu	37	chr19	56196968	56196968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cggctgcgggaagagcgggcGcacgcgctcaagaccaagga	17	12	1	2	rs566004707	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56196968G>A	ENST00000270460.6	+	3	746	c.435G>A	c.(433-435)gcG>gcA	p.A145A	EPN1_ENST00000085079.7_Silent_p.A145A|EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000411543.2_Silent_p.A256A|AC010525.2_ENST00000390145.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	145					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AAGAGCGGGCGCACGCGCTCA	0.682													G|||	3	0.000599042	0.0023	0	5008	,	,		14820	0		0	False		,,,				2504	0																0																																										SO:0001819	synonymous_variant	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.435G>A	19.37:g.56196968G>A			Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.A256	ENST00000270460.6	37	c.768	CCDS46199.1	19																																																																																			EPN1	-	NULL		0.682	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	G	NM_013333		56196968	1	no_errors	ENST00000411543	ensembl	human	known	70_37	silent	SNP	0.951	A	A	56196968	G	A	56196968	2	1	74	1	0	0	0	0	0	0	0	1	5197	1074	38	2		2	EPN1	19	56196968	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1264439	56196968	2932015	994	11689										
NLRP11	204801	genome.wustl.edu	37	chr19	56297128	56297128	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtgtcacaccaatttctcTgccttcctttaaagaccaag	6	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56297128T>A	ENST00000589093.1	-	10	3058	c.2965A>T	c.(2965-2967)Aga>Tga	p.R989*	NLRP11_ENST00000589824.2_Nonsense_Mutation_p.R935*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.R935*|NLRP11_ENST00000592953.1_Nonsense_Mutation_p.R890*|NLRP11_ENST00000443188.1_Nonsense_Mutation_p.R989*			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	989							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAATTTCTCTGCCTTCCTTT	0.403																																																	0													100	95	97					19																	56297128		2203	4300	6503	SO:0001587	stop_gained	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2965A>T	19.37:g.56297128T>A	ENSP00000466285:p.Arg989*		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R989*	ENST00000589093.1	37	c.2965	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	T	43	9.840681	0.99277	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9415	0.13967	0.0:0.0:0.0:1.0	.	.	.	.	X	989;935	.	ENSP00000353251:R935X	R	-	1	2	NLRP11	60988940	0.153000	0.22777	0.412000	0.26496	0.162000	0.22319	0.290000	0.18975	0.907000	0.36646	0.533000	0.62120	AGA	NLRP11	-	NULL		0.403	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	T	NM_145007		56297128	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	nonsense	SNP	0.453	A	A	56297128	T	A	56297128	4	1	74	1	0	0	0	0	0	1	0	0	10497	1588	55	5	140	5	NLRP11	19	56297128	Nonsense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	100160	56297128	2831855	995	11690										
DUXA	503835	genome.wustl.edu	37	chr19	57669800	57669800	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgatgagagtgtgtaactGagaggcgctgtaggtggtac	16	5	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:57669800G>A	ENST00000554048.2	-	4	333	c.334C>T	c.(334-336)Cag>Tag	p.Q112*		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTGTGTAACTGAGAGGCGCTG	0.483																																																	0													87	85	86					19																	57669800		2203	4300	6503	SO:0001587	stop_gained	503835				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.334C>T	19.37:g.57669800G>A	ENSP00000452398:p.Gln112*			Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.Q112*	ENST00000554048.2	37	c.334	CCDS33126.1	19	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135965	0.37728	.	.	ENSG00000258873	ENST00000554048	.	.	.	2.85	2.85	0.33270	.	0.000000	0.30940	N	0.008563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7977	9.41	0.38485	0.0:0.0:1.0:0.0	.	.	.	.	X	112	.	ENSP00000365415:Q112X	Q	-	1	0	DUXA	62361612	0.029000	0.19370	0.012000	0.15200	0.003000	0.03518	2.084000	0.41625	1.900000	0.55004	0.655000	0.94253	CAG	DUXA	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.483	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	DUXA	HGNC	protein_coding	OTTHUMT00000410075.3	G	NM_001012729		57669800	-1	no_errors	ENST00000554048	ensembl	human	known	70_37	nonsense	SNP	0.013	A	A	57669800	G	A	57669800	4	1	74	1	0	0	0	0	0	1	0	0	4844	1299	45	1	292	1	DUXA	19	57669800	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1372672	57669800	1459183	996	11691										
ZNF773	374928	genome.wustl.edu	37	chr19	58018541	58018541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acactggagaaaggccttatGagtgcagtgaatgtgggaaa	14	5	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58018541G>C	ENST00000282292.4	+	4	1218	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	ZNF773_ENST00000598770.1_Missense_Mutation_p.E359Q|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAGGCCTTATGAGTGCAGTGA	0.413																																																	0													108	111	110					19																	58018541		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1078G>C	19.37:g.58018541G>C	ENSP00000282292:p.Glu360Gln		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E360Q	ENST00000282292.4	37	c.1078	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	6.122	0.390698	0.11581	.	.	ENSG00000152439	ENST00000282292	T	0.20200	2.09	1.24	0.156	0.14910	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14313	0.0346	N	0.04355	-0.22	0.09310	N	1	P;B	0.52316	0.952;0.338	P;B	0.56127	0.792;0.158	T	0.10800	-1.0614	9	0.62326	D	0.03	.	2.615	0.04901	0.376:0.2647:0.3593:0.0	.	359;360	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	Q	360	ENSP00000282292:E360Q	ENSP00000282292:E360Q	E	+	1	0	ZNF773	62710353	0.000000	0.05858	0.017000	0.16124	0.701000	0.40568	-0.949000	0.03893	0.094000	0.17404	0.305000	0.20034	GAG	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58018541	1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.004	C	C	58018541	G	C	58018541	3	2	74	1	0	0	0	0	1	0	0	0	18176	1291	45	1	1092	1	ZNF773	19	58018541	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	348741	58018541	1110442	997	11692										
ZNF530	348327	genome.wustl.edu	37	chr19	58117823	58117823	+	Silent	SNP	C	C	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttcgccaggtatctgtcctCattcaacatcaacgagttca							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58117823C>T	ENST00000332854.6	+	3	1150	c.930C>T	c.(928-930)ctC>ctT	p.L310L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATCTGTCCTCATTCAACATC	0.463																																																	0													112	94	100					19																	58117823		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.930C>T	19.37:g.58117823C>T			O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L310	ENST00000332854.6	37	c.930	CCDS12955.1	19																																																																																			ZNF530	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	C	NM_020880		58117823	1	no_errors	ENST00000332854	ensembl	human	known	70_37	silent	SNP	0.000	T	T	58117823	C	T	58117823	2	4	74	1	0	0	0	0	0	0	0	1	18001	813	29	1		1	ZNF530	19	58117823	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	99282	58117823	1011160	998	11693	62	2								
ZNF530	348327	genome.wustl.edu	37	chr19	58117826	58117826	+	Silent	SNP	T	T	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgccaggtatctgtcctcatTcaacatcaacgagttcacac							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58117826T>A	ENST00000332854.6	+	3	1153	c.933T>A	c.(931-933)atT>atA	p.I311I	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTGTCCTCATTCAACATCAAC	0.468																																																	0													113	95	101					19																	58117826		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.933T>A	19.37:g.58117826T>A			O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I311	ENST00000332854.6	37	c.933	CCDS12955.1	19																																																																																			ZNF530	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	T	NM_020880		58117826	1	no_errors	ENST00000332854	ensembl	human	known	70_37	silent	SNP	0.001	A	A	58117826	T	A	58117826	2	1	74	1	0	0	0	0	0	0	0	1	18001	1771	62	5		5	ZNF530	19	58117826	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3	58117826	1011157	999	11694	62	2								
ZNF211	10520	genome.wustl.edu	37	chr19	58152932	58152932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtccaacctcatgcagcatCgcagagttcacactggagaa	10	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58152932C>T	ENST00000347302.3	+	3	1257	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	ZNF211_ENST00000420680.1_Missense_Mutation_p.R364C|ZNF211_ENST00000254182.7_Missense_Mutation_p.R351C|ZNF211_ENST00000299871.5_Missense_Mutation_p.R425C|ZNF211_ENST00000541801.1_Missense_Mutation_p.R351C|ZNF211_ENST00000544273.1_Missense_Mutation_p.R372C|ZNF211_ENST00000240731.4_Missense_Mutation_p.R373C|ZNF211_ENST00000391703.3_Missense_Mutation_p.R299C	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGCAGCATCGCAGAGTTCA	0.463																																																	0													76	77	77					19																	58152932		2203	4300	6503	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1078C>T	19.37:g.58152932C>T	ENSP00000339562:p.Arg360Cys		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R373C	ENST00000347302.3	37	c.1117	CCDS12957.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.97|12.97	2.096389|2.096389	0.36952|0.36952	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;3.17;3.17;3.17;1.17;1.17;1.17|.	3.57|3.57	0.7|0.7	0.18099|0.18099	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.53706|0.53706	0.1813|0.1813	M|M	0.70842|0.70842	2.15|2.15	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|.	0.76494|.	0.987;0.968;0.997;0.999;0.974;0.974|.	B;B;P;P;P;P|.	0.61592|.	0.431;0.311;0.736;0.891;0.567;0.567|.	T|T	0.48581|0.48581	-0.9023|-0.9023	9|5	0.87932|.	D|.	0|.	.|.	10.8155|10.8155	0.46573|0.46573	0.5339:0.4661:0.0:0.0|0.5339:0.4661:0.0:0.0	.|.	364;372;425;351;360;373|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	C|L	364;360;351;299;351;425;372;373|363	ENSP00000399193:R364C;ENSP00000339562:R360C;ENSP00000254182:R351C;ENSP00000375584:R299C;ENSP00000442601:R351C;ENSP00000299871:R425C;ENSP00000441386:R372C;ENSP00000240731:R373C|.	ENSP00000240731:R373C|.	R|S	+|+	1|2	0|0	ZNF211|ZNF211	62844744|62844744	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.762000|0.762000	0.43233|0.43233	-0.521000|-0.521000	0.06245|0.06245	0.263000|0.263000	0.21812|0.21812	0.585000|0.585000	0.79938|0.79938	CGC|TCG	ZNF211	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	C			58152932	1	no_errors	ENST00000240731	ensembl	human	known	70_37	missense	SNP	0.033	T	T	58152932	C	T	58152932	3	4	74	1	0	0	0	0	1	0	0	0	17797	884	31	1	1131	1	ZNF211	19	58152932	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	35106	58152932	976051	1000	11695										
ZNF814	730051	genome.wustl.edu	37	chr19	58385022	58385022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taaaagatttcccacattctCcacacccataagatctttct	2	13	3	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58385022C>T	ENST00000435989.2	-	3	1970	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	579					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCCACATTCTCCACACCCATA	0.453																																																	0													97	78	83					19																	58385022		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1736G>A	19.37:g.58385022C>T	ENSP00000410545:p.Gly579Glu		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G579E	ENST00000435989.2	37	c.1736	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249127	0.22880	.	.	ENSG00000204514	ENST00000435989	T	0.07021	3.23	1.66	0.584	0.17422	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.04787	-0.16	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.47169	-0.9138	9	0.16896	T	0.51	.	2.2818	0.04116	0.0:0.3604:0.3113:0.3283	.	579	B7Z6K7	ZN814_HUMAN	E	579	ENSP00000410545:G579E	ENSP00000410545:G579E	G	-	2	0	ZNF814	63076834	0.000000	0.05858	0.470000	0.27216	0.314000	0.28054	-5.610000	0.00110	0.942000	0.37525	0.298000	0.19748	GGA	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	C	XM_001725708		58385022	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.017	T	T	58385022	C	T	58385022	3	4	74	1	0	0	0	0	1	0	0	0	18206	855	30	1	835	1	ZNF814	19	58385022	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	232090	58385022	743961	1001	11696										
ZSCAN1	284312	genome.wustl.edu	37	chr19	58565041	58565041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcaggcatctcggtagtgccGcgtgggccccgaggtgggcg	19	12	1	0	rs149807475	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58565041G>A	ENST00000282326.1	+	6	1096	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	283					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGTAGTGCCGCGTGGGCCCC	0.632													G|||	3	0.000599042	0	0	5008	,	,		15905	0		0	False		,,,				2504	0.0031																0													63	62	62					19																	58565041		2203	4300	6503	SO:0001819	synonymous_variant	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.849G>A	19.37:g.58565041G>A			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P283	ENST00000282326.1	37	c.849	CCDS12969.1	19																																																																																			ZSCAN1	-	NULL		0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	G	NM_182572		58565041	1	no_errors	ENST00000282326	ensembl	human	known	70_37	silent	SNP	0.001	A	A	58565041	G	A	58565041	2	1	74	1	0	0	0	0	0	0	0	1	18256	1074	38	2		2	ZSCAN1	19	58565041	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	180019	58565041	563942	1002	11697										
ZSCAN22	342945	genome.wustl.edu	37	chr19	58846467	58846467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctggagcagttcctgggtgCgctgcccccagagatccaag	14	13	0	1	rs375568613		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58846467C>T	ENST00000329665.4	+	2	446	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	100	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTCCTGGGTGCGCTGCCCCCA	0.652																																																	0								C	VAL/ALA	0,4406		0,0,2203	33	35	34		299	-1.6	0	19		34	1,8599		0,1,4299	no	missense	ZSCAN22	NM_181846.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/492	58846467	1,13005	2203	4300	6503	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.299C>T	19.37:g.58846467C>T	ENSP00000332433:p.Ala100Val		Q15922|Q7Z3L8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A100V	ENST00000329665.4	37	c.299	CCDS12975.1	19	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805715	0.16467	0.0	1.16E-4	ENSG00000182318	ENST00000329665	T	0.03801	3.8	4.34	-1.61	0.08399	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02494	0.0076	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44019	-0.9355	9	0.52906	T	0.07	.	7.5446	0.27759	0.0:0.4065:0.0:0.5935	.	100	P10073	ZSC22_HUMAN	V	100	ENSP00000332433:A100V	ENSP00000332433:A100V	A	+	2	0	ZSCAN22	63538279	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	-2.088000	0.01359	-0.066000	0.12998	-0.137000	0.14449	GCG	ZSCAN22	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.652	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	C	NM_181846		58846467	1	no_errors	ENST00000329665	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58846467	C	T	58846467	3	4	74	1	0	0	0	0	1	0	0	0	18264	768	27	2	301	2	ZSCAN22	19	58846467	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	281426	58846467	282516	1003	11698										
ZNF343	79175	genome.wustl.edu	37	chr20	2464233	2464233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taaggcttctctccagagtgCgtccgctcgtgtatgatgag	12	10	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:2464233C>T	ENST00000278772.4	-	6	1861	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTCCAGAGTGCGTCCGCTCGT	0.532																																																	0													113	89	97					20																	2464233		2203	4300	6503	SO:0001819	synonymous_variant	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1374G>A	20.37:g.2464233C>T			Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T458	ENST00000278772.4	37	c.1374	CCDS13028.1	20																																																																																			ZNF343	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	C	NM_024325		2464233	-1	no_errors	ENST00000278772	ensembl	human	known	70_37	silent	SNP	0.335	T	T	2464233	C	T	2464233	2	4	74	1	0	0	0	0	0	0	0	1	17888	755	27	2		2	ZNF343	20	2464233	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		2464233	60561287	1004	11699										
ANKRD5	63926	genome.wustl.edu	37	chr20	10032317	10032317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcttattttacagagctaaCgttaatgcaacagataactt	5	7	1	2	rs369090311		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:10032317C>T	ENST00000378380.3	+	7	1979	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.N550N	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	550							calcium ion binding (GO:0005509)										ACAGAGCTAACGTTAATGCAA	0.358																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	77	73	74		1650,1650	-11.4	0.2	20		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKRD5	NM_022096.4,NM_198798.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	550/777,550/777	10032317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63926			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1650C>T	20.37:g.10032317C>T			B3KUQ0|Q9H6Y9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt	p.N550	ENST00000378380.3	37	c.1650	CCDS13108.1	20																																																																																			ANKRD5	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.358	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD5	HGNC	protein_coding	OTTHUMT00000077968.2	C	NM_022096		10032317	1	no_errors	ENST00000378380	ensembl	human	known	70_37	silent	SNP	0.332	T	T	10032317	C	T	10032317	2	4	74	1	0	0	0	0	0	0	0	1	676	535	19	2		2	ANKRD5	20	10032317	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7568084	10032317	52993203	1005	11700										
C20orf94	128710	genome.wustl.edu	37	chr20	10602039	10602039	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttcctcccagtgcaaagctCcggagaaatgctctgaaaga	9	12	1	3	rs148003716	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:10602039C>G	ENST00000334534.5	+	7	663	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	161																	GTGCAAAGCTCCGGAGAAATG	0.403																																																	0								C		0,4406		0,0,2203	139	119	126		483	3.7	0.3	20	dbSNP_134	126	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	C20orf94	NM_001009608.1		0,4,6499	GG,GC,CC		0.0465,0.0,0.0308		161/409	10602039	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	128710			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.483C>G	20.37:g.10602039C>G			Q05CG2|Q05CT9	Silent	SNP	NULL	p.L161	ENST00000334534.5	37	c.483	CCDS33439.1	20																																																																																			SLX4IP	-	NULL		0.403	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	C	NM_001009608		10602039	1	no_errors	ENST00000334534	ensembl	human	known	70_37	silent	SNP	0.037	G	G	10602039	C	G	10602039	2	3	74	1	0	0	0	0	0	0	0	1	2126	842	30	1		1	C20orf94	20	10602039	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	569722	10602039	52423481	1006	11701										
JAG1	182	genome.wustl.edu	37	chr20	10653409	10653409	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcgttgccgcggctggccttGaggttgaaggtgttgccccc	15	12	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:10653409G>C	ENST00000254958.5	-	2	842	c.327C>G	c.(325-327)ctC>ctG	p.L109L	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	109					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCTGGCCTTGAGGTTGAAGG	0.662									Alagille Syndrome																																								0													51	48	49					20																	10653409		2203	4299	6502	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.327C>G	20.37:g.10653409G>C			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.L109	ENST00000254958.5	37	c.327	CCDS13112.1	20																																																																																			JAG1	-	pfam_Notch_ligand_N		0.662	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10653409	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	silent	SNP	0.998	C	C	10653409	G	C	10653409	2	2	74	1	0	0	0	0	0	0	0	1	7954	1277	45	1		1	JAG1	20	10653409	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	51370	10653409	52372111	1007	11702										
SLC24A3	57419	genome.wustl.edu	37	chr20	19701772	19701772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttgtgaacctgcccatgtgCggggaccactgagccgccgg	14	13	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:19701772C>T	ENST00000328041.6	+	17	2120	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	641					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCCCATGTGCGGGGACCACT	0.612																																																	0													187	157	167					20																	19701772		2203	4300	6503	SO:0001819	synonymous_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1923C>T	20.37:g.19701772C>T			B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.C641	ENST00000328041.6	37	c.1923	CCDS13140.1	20																																																																																			SLC24A3	-	NULL		0.612	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19701772	1	no_errors	ENST00000328041	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19701772	C	T	19701772	2	4	74	1	0	0	0	0	0	0	0	1	14497	776	27	2		2	SLC24A3	20	19701772	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	9048363	19701772	43323748	1008	11703										
RALGAPA2	57186	genome.wustl.edu	37	chr20	20553692	20553692	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcgattatactacagtcatCtgtgaggcactcgctgctat	10	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:20553692C>T	ENST00000202677.7	-	21	2735	c.2728G>A	c.(2728-2730)Gat>Aat	p.D910N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	910					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTACAGTCATCTGTGAGGCAC	0.463																																																	0													43	43	43					20																	20553692		1910	4123	6033	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2728G>A	20.37:g.20553692C>T	ENSP00000202677:p.Asp910Asn		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D910N	ENST00000202677.7	37	c.2728	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833087	0.50951	.	.	ENSG00000188559	ENST00000202677	T	0.69926	-0.44	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.71581	2.175	0.58432	D	0.999995	B;B	0.32731	0.382;0.107	B;B	0.32465	0.146;0.094	T	0.64188	-0.6466	10	0.22706	T	0.39	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	748;910	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	N	910	ENSP00000202677:D910N	ENSP00000202677:D910N	D	-	1	0	RALGAPA2	20501692	1.000000	0.71417	0.870000	0.34147	0.232000	0.25224	7.770000	0.85390	2.798000	0.96311	0.655000	0.94253	GAT	RALGAPA2	-	NULL		0.463	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20553692	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20553692	C	T	20553692	3	4	74	1	0	0	0	0	1	0	0	0	13044	913	32	1	2969	1	RALGAPA2	20	20553692	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	851920	20553692	42471828	1009	11704										
PLK1S1	101929591	genome.wustl.edu	37	chr20	21142657	21142657	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaatctccccagcccacaaAgaacttttcaattcctgacc	3	16	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:21142657A>C	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							CAGCCCACAAAGAACTTTTCA	0.458																																																	0													73	71	71					20																	21142657		1935	4144	6079			55857																															20.37:g.21142657A>C				RNA	SNP	-	NULL	ENST00000591761.1	37	NULL		20																																																																																			PLK1S1	-	-		0.458	RP4-777D9.2-002	KNOWN	basic	antisense	PLK1S1	HGNC	antisense	OTTHUMT00000078258.2	A			21142657	1	no_errors	ENST00000246027	ensembl	human	known	70_37	rna	SNP	1.000	C	C	21142657	A	C	21142657	1	2	74	0	1	0	0	0	0	0	0	0	12119	72	3	5		5	PLK1S1	20	21142657	RNA	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	588965	21142657	41882863	1010	11705										
PAX1	5075	genome.wustl.edu	37	chr20	21686449	21686449	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggagcgggcggcagcgcgctCcgctgccgcgcacagcgcgt	18	16	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:21686449C>T	ENST00000398485.2	+	1	153	c.99C>T	c.(97-99)ctC>ctT	p.L33L	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	33					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCAGCGCGCTCCGCTGCCGCG	0.786																																																	0													2	2	2					20																	21686449		575	1359	1934	SO:0001819	synonymous_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.99C>T	20.37:g.21686449C>T			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.L33	ENST00000398485.2	37	c.99	CCDS13146.2	20																																																																																			PAX1	-	NULL		0.786	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	C			21686449	1	no_errors	ENST00000398485	ensembl	human	known	70_37	silent	SNP	0.003	T	T	21686449	C	T	21686449	2	4	74	1	0	0	0	0	0	0	0	1	11502	842	30	1		1	PAX1	20	21686449	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	543792	21686449	41339071	1011	11706										
NXT1	29107	genome.wustl.edu	37	chr20	23334805	23334805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccgcctgtacatgggcacaGccaccctggtctggaatggc	12	15	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:23334805G>A	ENST00000254998.2	+	2	514	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000452395.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	43	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CATGGGCACAGCCACCCTGGT	0.517																																																	0													87	74	78					20																	23334805		2203	4300	6503	SO:0001583	missense	29107			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"NTX2-like export factor1", "NTF2-like export factor 1"			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.127G>A	20.37:g.23334805G>A	ENSP00000254998:p.Ala43Thr			Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.A43T	ENST00000254998.2	37	c.127	CCDS13150.1	20	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773343	0.90108	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	5.32	0.75619	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.053782	0.64402	D	0.000001	T	0.77658	0.4163	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	T	0.78671	-0.2113	9	0.62326	D	0.03	.	16.9063	0.86128	0.0:0.0:1.0:0.0	.	43	Q9UKK6	NXT1_HUMAN	T	43	.	ENSP00000254998:A43T	A	+	1	0	NXT1	23282805	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.055000	0.71103	2.941000	0.99782	0.655000	0.94253	GCC	NXT1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.517	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT1	HGNC	protein_coding	OTTHUMT00000078313.2	G	NM_013248		23334805	1	no_errors	ENST00000254998	ensembl	human	known	70_37	missense	SNP	0.998	A	A	23334805	G	A	23334805	3	1	74	1	0	0	0	0	1	0	0	0	10818	971	34	4	129	4	NXT1	20	23334805	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1648356	23334805	39690715	1012	11707										
ACSS1	84532	genome.wustl.edu	37	chr20	24994643	24994643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgccaaagaagggcctcatcGccatggcagggaggatttcc	13	11	1	1	rs375554533		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:24994643G>A	ENST00000323482.4	-	9	1485	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	ACSS1_ENST00000542618.1_Missense_Mutation_p.A348V|ACSS1_ENST00000537502.1_Missense_Mutation_p.A386V|ACSS1_ENST00000432802.2_Missense_Mutation_p.A469V|ACSS1_ENST00000484396.1_5'Flank	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	469					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCCTCATCGCCATGGCAGG	0.577																																																	0								G	VAL/ALA	0,4406		0,0,2203	103	66	79		1406	5	1	20		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS1	NM_032501.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	469/690	24994643	1,13005	2203	4300	6503	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1406C>T	20.37:g.24994643G>A	ENSP00000316924:p.Ala469Val		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.A469V	ENST00000323482.4	37	c.1406	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487351	0.84854	0.0	1.16E-4	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.0	5.0	0.66597	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;1.0	D;P;D;P	0.91635	0.999;0.86;0.914;0.908	T	0.64262	-0.6449	10	0.87932	D	0	-37.38	17.2233	0.86963	0.0:0.0:1.0:0.0	.	264;467;469;386	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	V	469;264;386;469;348	ENSP00000316924:A469V;ENSP00000439304:A386V;ENSP00000388793:A469V;ENSP00000437657:A348V	ENSP00000316924:A469V	A	-	2	0	ACSS1	24942643	1.000000	0.71417	0.951000	0.38953	0.335000	0.28730	9.255000	0.95524	2.461000	0.83175	0.563000	0.77884	GCG	ACSS1	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig		0.577	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	G	NM_032501		24994643	-1	no_errors	ENST00000323482	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24994643	G	A	24994643	3	1	74	1	0	0	0	0	1	0	0	0	188	1087	38	2	687	2	ACSS1	20	24994643	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1659838	24994643	38030877	1013	11708										
BPI	671	genome.wustl.edu	37	chr20	36938980	36938980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtaaccccacgtcaggcaaGcccaccatcacctgctccag	7	18	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:36938980G>T	ENST00000262865.4	+	4	563	c.474G>T	c.(472-474)aaG>aaT	p.K158N	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	158					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CGTCAGGCAAGCCCACCATCA	0.537																																																	0													111	89	97					20																	36938980		2203	4300	6503	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.474G>T	20.37:g.36938980G>T	ENSP00000262865:p.Lys158Asn		B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.K158N	ENST00000262865.4	37	c.474	CCDS13303.1	20	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973642	0.34848	.	.	ENSG00000101425	ENST00000262865	T	0.05996	3.36	3.54	-4.11	0.03928	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.378970	0.04477	N	0.377169	T	0.06325	0.0163	L	0.47716	1.5	0.09310	N	1	P	0.44241	0.829	B	0.42087	0.375	T	0.24012	-1.0172	10	0.72032	D	0.01	-0.8866	0.7877	0.01051	0.2562:0.3339:0.2194:0.1905	.	158	P17213	BPI_HUMAN	N	158	ENSP00000262865:K158N	ENSP00000262865:K158N	K	+	3	2	BPI	36372394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.706000	0.05047	-0.813000	0.04357	-0.882000	0.02950	AAG	BPI	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BPI	HGNC	protein_coding	OTTHUMT00000079157.2	G	NM_001725		36938980	1	no_errors	ENST00000262865	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36938980	G	T	36938980	3	4	74	1	0	0	0	0	1	0	0	0	1493	962	34	4	488	4	BPI	20	36938980	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	11944337	36938980	26086540	1014	11709										
PLCG1	5335	genome.wustl.edu	37	chr20	39795201	39795201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggccttcctggtgcggaagCggaatgaacccaactcatat	12	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:39795201C>T	ENST00000373271.1	+	18	2491	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	PLCG1_ENST00000373272.2_Missense_Mutation_p.R696W|PLCG1_ENST00000244007.3_Missense_Mutation_p.R696W	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	696	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGTGCGGAAGCGGAATGAACC	0.602																																																	0													111	99	103					20																	39795201		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2086C>T	20.37:g.39795201C>T	ENSP00000362368:p.Arg696Trp		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R696W	ENST00000373271.1	37	c.2086	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806688	0.70682	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.89123	-2.47;-2.47;-2.47	5.7	4.7	0.59300	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (5);	0.047450	0.85682	D	0.000000	D	0.94866	0.8341	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	D	0.94880	0.8038	10	0.72032	D	0.01	.	12.3518	0.55153	0.317:0.683:0.0:0.0	.	696;272;696;696	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	W	696	ENSP00000244007:R696W;ENSP00000362368:R696W;ENSP00000362369:R696W	ENSP00000244007:R696W	R	+	1	2	PLCG1	39228615	0.997000	0.39634	1.000000	0.80357	0.686000	0.39977	0.754000	0.26390	2.848000	0.98002	0.655000	0.94253	CGG	PLCG1	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2		0.602	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	C	NM_182811		39795201	1	no_errors	ENST00000244007	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39795201	C	T	39795201	3	4	74	1	0	0	0	0	1	0	0	0	12059	759	27	2	2156	2	PLCG1	20	39795201	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2856221	39795201	23230319	1015	11710										
ZHX3	23051	genome.wustl.edu	37	chr20	39832662	39832662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgctcagggggatcatcaCtttgggaagggccttggccg	16	10	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:39832662C>A	ENST00000309060.3	-	4	1310	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	ZHX3_ENST00000544979.2_Missense_Mutation_p.V299L|ZHX3_ENST00000560361.1_Missense_Mutation_p.V299L|ZHX3_ENST00000559234.1_Missense_Mutation_p.V299L|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.V299L|ZHX3_ENST00000540170.1_Missense_Mutation_p.V299L			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	299	Required for homodimerization and interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGATCATCACTTTGGGAAGG	0.577																																																	0													93	83	86					20																	39832662		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.895G>T	20.37:g.39832662C>A	ENSP00000312222:p.Val299Leu		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.V299L	ENST00000309060.3	37	c.895	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402683|4.402683	0.83230|0.83230	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	.|T;T;T;T;T	.|0.38722	.|1.12;2.48;2.48;2.25;1.12	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63271|0.63271	0.2497|0.2497	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.76494	.|0.999;0.995;0.965	.|D;D;P	.|0.71414	.|0.973;0.955;0.79	T|T	0.57522|0.57522	-0.7797|-0.7797	5|10	.|0.45353	.|T	.|0.12	-23.3503|-23.3503	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|299;299;299	.|A8K8Q0;Q9H4I2;F5H820	.|.;ZHX3_HUMAN;.	I|L	7|299;299;299;299;77;299	.|ENSP00000312222:V299L;ENSP00000362360:V299L;ENSP00000442290:V299L;ENSP00000443783:V299L;ENSP00000415498:V299L	.|ENSP00000312222:V299L	S|V	-|-	2|1	0|0	ZHX3|ZHX3	39266076|39266076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	AGT|GTG	ZHX3	-	NULL		0.577	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39832662	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39832662	C	A	39832662	3	1	74	1	0	0	0	0	1	0	0	0	17707	565	20	4	1983	4	ZHX3	20	39832662	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	37461	39832662	23192858	1016	11711										
CHD6	84181	genome.wustl.edu	37	chr20	40111980	40111980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggtaatcttctaggatgtCgaggcagcgcaccatctggg	14	9	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:40111980C>T	ENST00000373233.3	-	16	2614	c.2437G>A	c.(2437-2439)Gac>Aac	p.D813N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTAGGATGTCGAGGCAGCGC	0.453																																																	0													97	87	91					20																	40111980		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2437G>A	20.37:g.40111980C>T	ENSP00000362330:p.Asp813Asn		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D813N	ENST00000373233.3	37	c.2437	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.839733	0.97009	.	.	ENSG00000124177	ENST00000373233	T	0.78126	-1.15	5.56	5.56	0.83823	Helicase, C-terminal (2);	0.000000	0.64402	D	0.000007	D	0.83663	0.5303	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	D	0.84690	0.0722	10	0.87932	D	0	-21.4272	19.8835	0.96906	0.0:1.0:0.0:0.0	.	813	Q8TD26	CHD6_HUMAN	N	813	ENSP00000362330:D813N	ENSP00000362330:D813N	D	-	1	0	CHD6	39545394	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	7.750000	0.85110	2.777000	0.95525	0.655000	0.94253	GAC	CHD6	-	smart_Helicase_C,pfscan_Helicase_C		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40111980	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40111980	C	T	40111980	3	4	74	1	0	0	0	0	1	0	0	0	3334	884	31	1	5798	1	CHD6	20	40111980	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	279318	40111980	22913540	1017	11712										
PTPRT	11122	genome.wustl.edu	37	chr20	41400170	41400170	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cacctccacgttttggagtcGcagaaaatgaggtgcttttc	10	10	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:41400170G>A	ENST00000373187.1	-	5	588	c.589C>T	c.(589-591)Cga>Tga	p.R197*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R197*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	197	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTTGGAGTCGCAGAAAATGA	0.498																																																	0													137	125	129					20																	41400170		1956	4162	6118	SO:0001587	stop_gained	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.589C>T	20.37:g.41400170G>A	ENSP00000362283:p.Arg197*		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R197*	ENST00000373187.1	37	c.589	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.790012	0.98492	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.45	2.4	0.29515	.	0.070857	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4025	0.38442	0.0671:0.0:0.6738:0.2591	.	.	.	.	X	197	.	ENSP00000348408:R197X	R	-	1	2	PTPRT	40833584	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	6.266000	0.72540	0.345000	0.23873	-0.158000	0.13435	CGA	PTPRT	-	pfscan_Ig-like		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			41400170	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	41400170	G	A	41400170	4	1	74	1	0	0	0	0	0	1	0	0	12842	1095	38	2	3905	2	PTPRT	20	41400170	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1288190	41400170	21625350	1018	11713										
SGK2	10110	genome.wustl.edu	37	chr20	42198062	42198062	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agagcgcagtgtgcttctgaAgaacgtgcggcaccccttcc	12	13	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:42198062A>C	ENST00000341458.4	+	5	665	c.446A>C	c.(445-447)aAg>aCg	p.K149T	SGK2_ENST00000373092.3_Missense_Mutation_p.K89T|SGK2_ENST00000426287.1_Missense_Mutation_p.K115T|SGK2_ENST00000373077.1_Missense_Mutation_p.K88T|SGK2_ENST00000423407.3_Missense_Mutation_p.K89T|SGK2_ENST00000373100.1_Missense_Mutation_p.K89T	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTGCTTCTGAAGAACGTGCGG	0.582																																																	0													90	67	75					20																	42198062		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.446A>C	20.37:g.42198062A>C	ENSP00000340608:p.Lys149Thr		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.K149T	ENST00000341458.4	37	c.446	CCDS13320.1	20	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166014	0.78339	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	L	0.44542	1.39	0.80722	D	1	P;P;D	0.67145	0.84;0.82;0.996	P;P;D	0.66497	0.723;0.853;0.944	T	0.76713	-0.2858	10	0.87932	D	0	.	13.0383	0.58885	1.0:0.0:0.0:0.0	.	115;149;89	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	T	89;89;88;88;89;149;115	ENSP00000362192:K89T;ENSP00000362184:K89T;ENSP00000362168:K88T;ENSP00000396222:K88T;ENSP00000392795:K89T;ENSP00000340608:K149T;ENSP00000412214:K115T	ENSP00000340608:K149T	K	+	2	0	SGK2	41631476	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.255000	0.95524	1.873000	0.54277	0.454000	0.30748	AAG	SGK2	-	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		0.582	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	A			42198062	1	no_errors	ENST00000341458	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42198062	A	C	42198062	3	2	74	1	0	0	0	0	1	0	0	0	14239	72	3	5	464	5	SGK2	20	42198062	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	797892	42198062	20827458	1019	11714										
KCNK15	140730	genome.wustl.edu	37	chr20	43378816	43378816	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gactccggcaaggtcttctgCatgttctacgcgctcctggg	12	13	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:43378816C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.C110C	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AGGTCTTCTGCATGTTCTACG	0.677																																																	0													38	33	35					20																	43378816		2203	4300	6503	SO:0001628	intergenic_variant	60598				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378816C>T			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.C110	ENST00000372851.3	37	c.330	CCDS13338.1	20																																																																																			KCNK15	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl		0.677	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	HGNC	protein_coding	OTTHUMT00000101027.2	C	NM_182970		43378816	1	no_errors	ENST00000372861	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43378816	C	T	43378816	1	4	74	0	1	0	0	0	0	0	0	0	8082	718	25	4		4	KCNK15	20	43378816	IGR	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1180754	43378816	19646704	1020	11715										
TOMM34	10953	genome.wustl.edu	37	chr20	43572097	43572097	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccaggatttttttttaccttGagtgctttgtgggcttgagc	11	7	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:43572097G>C	ENST00000372813.3	-	6	974	c.822C>G	c.(820-822)ctC>ctG	p.L274L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	274					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTTTTACCTTGAGTGCTTTGT	0.473																																																	0													162	147	152					20																	43572097		2203	4300	6503	SO:0001819	synonymous_variant	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.822C>G	20.37:g.43572097G>C			Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L274	ENST00000372813.3	37	c.822	CCDS13340.1	20																																																																																			TOMM34	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.473	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	G	NM_006809		43572097	-1	no_errors	ENST00000372813	ensembl	human	known	70_37	silent	SNP	1.000	C	C	43572097	G	C	43572097	2	2	74	1	0	0	0	0	0	0	0	1	16387	1277	45	1		1	TOMM34	20	43572097	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	193281	43572097	19453423	1021	11716										
STK4	6789	genome.wustl.edu	37	chr20	43623740	43623740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttctattttaggataccatgGccaagcggaatacagtgata	9	7	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:43623740G>A	ENST00000372806.3	+	6	630	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	STK4_ENST00000372801.1_Missense_Mutation_p.A179T|STK4_ENST00000396731.4_Missense_Mutation_p.A179T|STK4_ENST00000499879.2_Missense_Mutation_p.A124T	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GGATACCATGGCCAAGCGGAA	0.413																																					GBM(187;1039 2137 11798 21916 33213)												0													136	132	133					20																	43623740		2203	4300	6503	SO:0001583	missense	6789				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.535G>A	20.37:g.43623740G>A	ENSP00000361892:p.Ala179Thr		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A179T	ENST00000372806.3	37	c.535	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.245113	0.95272	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.10707	0.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.977;0.982;0.982	D;P;P;D	0.91635	0.999;0.877;0.901;0.925	T	0.71520	-0.4568	10	0.51188	T	0.08	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	124;179;179;179	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	T	179;179;179;124	ENSP00000361892:A179T;ENSP00000379957:A179T;ENSP00000361887:A179T;ENSP00000443514:A124T	ENSP00000361887:A179T	A	+	1	0	STK4	43057154	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.338000	0.96553	2.806000	0.96561	0.655000	0.94253	GCC	STK4	-	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		0.413	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	G	NM_006282		43623740	1	no_errors	ENST00000372806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43623740	G	A	43623740	3	1	74	1	0	0	0	0	1	0	0	0	15336	1203	42	4	557	4	STK4	20	43623740	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	51643	43623740	19401780	1022	11717										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47592687	47592687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcaggatgaccctgagcaaTttgaggtcatcaagcaacaa	9	9	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:47592687T>G	ENST00000371917.4	+	14	1909	c.1909T>G	c.(1909-1911)Ttt>Gtt	p.F637V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	637					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCCTGAGCAATTTGAGGTCAT	0.502																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													107	81	90					20																	47592687		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1909T>G	20.37:g.47592687T>G	ENSP00000360985:p.Phe637Val		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.F637V	ENST00000371917.4	37	c.1909	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089066	0.76756	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.76186	-1.0	5.79	5.79	0.91817	Armadillo-type fold (1);SEC7-like (2);	0.225320	0.48286	D	0.000188	T	0.78991	0.4371	M	0.74881	2.28	0.80722	D	1	P	0.45827	0.867	P	0.45794	0.493	T	0.82210	-0.0570	10	0.72032	D	0.01	.	16.1354	0.81481	0.0:0.0:0.0:1.0	.	637	Q9Y6D5	BIG2_HUMAN	V	637	ENSP00000360985:F637V	ENSP00000360985:F637V	F	+	1	0	ARFGEF2	47026094	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.015000	0.88690	2.207000	0.71202	0.533000	0.62120	TTT	ARFGEF2	-	superfamily_Sec7,superfamily_ARM-type_fold,pfscan_Sec7		0.502	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	T	NM_006420		47592687	1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47592687	T	G	47592687	3	3	74	1	0	0	0	0	1	0	0	0	853	1493	52	5	1963	5	ARFGEF2	20	47592687	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3968947	47592687	15432833	1023	11718										
CDH4	1002	genome.wustl.edu	37	chr20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccacggccaacgggatggtgCggtaccggatcgtgacccag	15	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)											160	124	136					20																	60448849		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.943C>T	20.37:g.60448849C>T	ENSP00000353656:p.Arg315Trp		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.R315W	ENST00000360469.5	37	c.943	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684470	0.68157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.92	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.75657	0.3879	M	0.93550	3.43	0.39684	D	0.970949	D	0.89917	1.0	D	0.66351	0.943	T	0.82406	-0.0473	9	.	.	.	.	12.8927	0.58080	0.7422:0.2578:0.0:0.0	.	315	P55283	CADH4_HUMAN	W	315;223;241	ENSP00000353656:R315W;ENSP00000443301:R241W	.	R	+	1	2	CDH4	59882244	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	1.829000	0.39121	0.433000	0.26313	0.585000	0.79938	CGG	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	C	NM_001794		60448849	1	no_errors	ENST00000360469	ensembl	human	known	70_37	missense	SNP	0.993	T	T	60448849	C	T	60448849	3	4	74	1	0	0	0	0	1	0	0	0	3117	759	27	2	969	2	CDH4	20	60448849	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	12856162	60448849	2576671	1024	11719										
TAF4	6874	genome.wustl.edu	37	chr20	60581658	60581658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagggcactggtcacggtggCcgccgtcttcccggccgtgc	16	15	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:60581658C>T	ENST00000252996.4	-	7	2130	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	711					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCACGGTGGCCGCCGTCTTC	0.716																																																	0													15	17	17					20																	60581658		2187	4265	6452	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2131G>A	20.37:g.60581658C>T	ENSP00000252996:p.Ala711Thr		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.A711T	ENST00000252996.4	37	c.2131	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377489	0.61735	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.79;1.77	5.46	5.46	0.80206	.	0.259540	0.37483	N	0.002068	T	0.21427	0.0516	L	0.44542	1.39	0.51767	D	0.999931	P	0.34864	0.473	B	0.24848	0.056	T	0.05338	-1.0891	10	0.13108	T	0.6	-18.0454	19.2974	0.94128	0.0:1.0:0.0:0.0	.	711	O00268	TAF4_HUMAN	T	711;575	ENSP00000252996:A711T;ENSP00000399091:A575T	ENSP00000252996:A711T	A	-	1	0	TAF4	60015053	0.996000	0.38824	0.973000	0.42090	0.992000	0.81027	3.445000	0.52921	2.550000	0.86006	0.563000	0.77884	GCC	TAF4	-	NULL		0.716	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	C	NM_003185		60581658	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	missense	SNP	0.998	T	T	60581658	C	T	60581658	3	4	74	1	0	0	0	0	1	0	0	0	15556	739	26	4	1162	4	TAF4	20	60581658	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	132809	60581658	2443862	1025	11720										
PTK6	5753	genome.wustl.edu	37	chr20	62160943	62160943	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcctctcccgcagggccttGaagcagggtctctgctcggg	14	14	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62160943G>A	ENST00000217185.2	-	8	1329	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	PTK6_ENST00000542869.1_Silent_p.F333F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	GCAGGGCCTTGAAGCAGGGTC	0.682																																																	0													25	24	24					20																	62160943		2193	4283	6476	SO:0001819	synonymous_variant	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.1302C>T	20.37:g.62160943G>A			B2RCR3|B4DW46|Q58F01	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.F434	ENST00000217185.2	37	c.1302	CCDS13524.1	20																																																																																			PTK6	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.682	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK6	HGNC	protein_coding	OTTHUMT00000080313.1	G			62160943	-1	no_errors	ENST00000217185	ensembl	human	known	70_37	silent	SNP	0.827	A	A	62160943	G	A	62160943	2	1	74	1	0	0	0	0	0	0	0	1	12792	1281	45	1		1	PTK6	20	62160943	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1579285	62160943	864577	1026	11721										
PRIC285	85441	genome.wustl.edu	37	chr20	62192044	62192044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaggggaaggcacagatgcCctcatgctgcaggcaaggat	15	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62192044C>T	ENST00000467148.1	-	16	7357	c.7288G>A	c.(7288-7290)Ggc>Agc	p.G2430S	HELZ2_ENST00000427522.2_Missense_Mutation_p.G1861S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2430	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCACAGATGCCCTCATGCTGC	0.682																																																	0													49	51	50					20																	62192044		2203	4300	6503	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7288G>A	20.37:g.62192044C>T	ENSP00000417401:p.Gly2430Ser		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.G2430S	ENST00000467148.1	37	c.7288	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259962	0.23051	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.81579	-1.51;-1.51	3.91	3.91	0.45181	ATPase, AAA+ type, core (1);	0.882675	0.09722	N	0.764275	T	0.51126	0.1656	N	0.01257	-0.925	0.21841	N	0.999512	B;B	0.18310	0.027;0.022	B;B	0.20384	0.029;0.01	T	0.46707	-0.9172	10	0.06891	T	0.86	-11.6463	7.3476	0.26672	0.0:0.7841:0.0:0.2159	.	2430;1861	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	S	1861;2430	ENSP00000393257:G1861S;ENSP00000417401:G2430S	ENSP00000393257:G1861S	G	-	1	0	RP4-697K14.7	61662488	0.248000	0.23930	0.886000	0.34754	0.663000	0.39108	2.658000	0.46733	1.754000	0.51921	0.491000	0.48974	GGC	HELZ2	-	NULL		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62192044	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.649	T	T	62192044	C	T	62192044	3	4	74	1	0	0	0	0	1	0	0	0	12512	623	22	4	677	4	PRIC285	20	62192044	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	31101	62192044	833476	1027	11722										
PRIC285	85441	genome.wustl.edu	37	chr20	62195033	62195033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgatagctctgggcaagtgcGtgctggaggctgaaggcctg	17	8	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62195033G>A	ENST00000467148.1	-	8	5211	c.5142C>T	c.(5140-5142)caC>caT	p.H1714H	HELZ2_ENST00000427522.2_Silent_p.H1145H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1714					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGGCAAGTGCGTGCTGGAGGC	0.677																																																	0													10	12	11					20																	62195033		2164	4277	6441	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5142C>T	20.37:g.62195033G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.H1714	ENST00000467148.1	37	c.5142	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62195033	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.000	A	A	62195033	G	A	62195033	2	1	74	1	0	0	0	0	0	0	0	1	12512	1136	40	2		2	PRIC285	20	62195033	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2989	62195033	830487	1028	11723										
MYT1	4661	genome.wustl.edu	37	chr20	62839109	62839109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggaagaggacttgggccaggCggccaagccaggtcctggca	17	11	0	1	rs557112974		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62839109C>T	ENST00000328439.1	+	7	924	c.560C>T	c.(559-561)gCg>gTg	p.A187V	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.A187V	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGGGCCAGGCGGCCAAGCCA	0.582																																					GBM(59;481 1041 20555 21139 33705)												0													53	53	53					20																	62839109		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.560C>T	20.37:g.62839109C>T	ENSP00000327465:p.Ala187Val		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.A187V	ENST00000328439.1	37	c.560	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	c	2.228	-0.376801	0.05000	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.44083	0.94;0.93	4.46	-8.93	0.00771	.	1.113020	0.06995	N	0.822212	T	0.09730	0.0239	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.27785	T	0.31	1.9022	4.8426	0.13498	0.1702:0.2804:0.4556:0.0939	.	187	Q01538	MYT1_HUMAN	V	187	ENSP00000327465:A187V;ENSP00000442412:A187V	ENSP00000327465:A187V	A	+	2	0	MYT1	62309553	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.554000	0.02172	-2.520000	0.00498	-0.269000	0.10298	GCG	MYT1	-	NULL		0.582	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	C	NM_004535		62839109	1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62839109	C	T	62839109	3	4	74	1	0	0	0	0	1	0	0	0	10129	768	27	2	578	2	MYT1	20	62839109	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	644076	62839109	186411	1029	11724										
HSPA13	6782	genome.wustl.edu	37	chr21	15746110	15746110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agaactcttgaatgacttgaCggatccgaggaatacgagtg	12	7	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:15746110C>T	ENST00000285667.3	-	5	1311	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H	HSPA13_ENST00000544452.1_Missense_Mutation_p.R207H	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	415						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AATGACTTGACGGATCCGAGG	0.478																																																	0													107	110	109					21																	15746110		2203	4300	6503	SO:0001583	missense	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1244G>A	21.37:g.15746110C>T	ENSP00000285667:p.Arg415His		B2R616|Q8NE40	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R415H	ENST00000285667.3	37	c.1244	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776786	0.90195	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01068	5.38;5.38	5.65	4.77	0.60923	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	M	0.71581	2.175	0.80722	D	1	B	0.29627	0.252	B	0.26614	0.071	T	0.46569	-0.9182	10	0.87932	D	0	-4.2409	15.0193	0.71617	0.0:0.9316:0.0:0.0684	.	415	P48723	HSP13_HUMAN	H	415;207	ENSP00000285667:R415H;ENSP00000441986:R207H	ENSP00000285667:R415H	R	-	2	0	HSPA13	14667981	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.041000	0.70988	1.534000	0.49203	0.655000	0.94253	CGT	HSPA13	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.478	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	HGNC	protein_coding	OTTHUMT00000157815.1	C			15746110	-1	no_errors	ENST00000285667	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15746110	C	T	15746110	3	4	74	1	0	0	0	0	1	0	0	0	7426	536	19	2	175	2	HSPA13	21	15746110	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		15746110	32383785	1030	11725										
NRIP1	8204	genome.wustl.edu	37	chr21	16337835	16337835	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctcttcctggttaagcaaGgacccatacagtacttctgg	9	11	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:16337835G>T	ENST00000400202.1	-	3	3391	c.2679C>A	c.(2677-2679)tcC>tcA	p.S893S	NRIP1_ENST00000400199.1_Silent_p.S893S|NRIP1_ENST00000318948.4_Silent_p.S893S|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	893	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGTTAAGCAAGGACCCATACA	0.403																																																	0													130	129	129					21																	16337835		2203	4299	6502	SO:0001819	synonymous_variant	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2679C>A	21.37:g.16337835G>T			Q8IWE8	Silent	SNP	NULL	p.S893	ENST00000400202.1	37	c.2679	CCDS13568.1	21																																																																																			NRIP1	-	NULL		0.403	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16337835	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	silent	SNP	0.019	T	T	16337835	G	T	16337835	2	4	74	1	0	0	0	0	0	0	0	1	10676	987	35	4		4	NRIP1	21	16337835	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	591725	16337835	31792060	1031	11726										
NRIP1	8204	genome.wustl.edu	37	chr21	16339364	16339364	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggtatagtctggcttttaaGaagatgtaaaagcaaactat	9	4	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:16339364G>A	ENST00000400202.1	-	3	1862	c.1150C>T	c.(1150-1152)Ctt>Ttt	p.L384F	NRIP1_ENST00000400199.1_Missense_Mutation_p.L384F|NRIP1_ENST00000318948.4_Missense_Mutation_p.L384F|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	384	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGGCTTTTAAGAAGATGTAAA	0.363																																																	0													171	164	166					21																	16339364		2203	4299	6502	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1150C>T	21.37:g.16339364G>A	ENSP00000383063:p.Leu384Phe		Q8IWE8	Missense_Mutation	SNP	NULL	p.L384F	ENST00000400202.1	37	c.1150	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153028	0.78001	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.26067	1.76;1.76;1.76	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31613	-0.9937	10	0.49607	T	0.09	-1.9029	20.6048	0.99465	0.0:0.0:1.0:0.0	.	384	P48552	NRIP1_HUMAN	F	384	ENSP00000383060:L384F;ENSP00000383063:L384F;ENSP00000327213:L384F	ENSP00000327213:L384F	L	-	1	0	NRIP1	15261235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.371000	0.79600	2.875000	0.98604	0.644000	0.83932	CTT	NRIP1	-	NULL		0.363	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16339364	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16339364	G	A	16339364	3	1	74	1	0	0	0	0	1	0	0	0	10676	942	33	1	2330	1	NRIP1	21	16339364	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1529	16339364	31790531	1032	11727										
RWDD2B	10069	genome.wustl.edu	37	chr21	30391569	30391569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcactgctgtaacccgggttCcatggctgcatggacagctc	11	13	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:30391569C>G	ENST00000493196.1	-	1	130	c.30G>C	c.(28-30)tgG>tgC	p.W10C	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	10										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AACCCGGGTTCCATGGCTGCA	0.592																																																	0													57	48	51					21																	30391569		2203	4300	6503	SO:0001583	missense	10069			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 6"	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.30G>C	21.37:g.30391569C>G	ENSP00000418693:p.Trp10Cys			Missense_Mutation	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.W10C	ENST00000493196.1	37	c.30	CCDS13582.1	21	.	.	.	.	.	.	.	.	.	.	C	7.015	0.557650	0.13436	.	.	ENSG00000156253	ENST00000493196	.	.	.	2.79	1.65	0.23941	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.27679	0.185	B	0.24394	0.053	T	0.17410	-1.0370	8	0.54805	T	0.06	7.7202	4.2098	0.10505	0.0:0.1778:0.0:0.8222	.	10	P57060	RWD2B_HUMAN	C	10	.	ENSP00000418693:W10C	W	-	3	0	RWDD2B	29313440	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.561000	0.23515	0.482000	0.27582	-0.302000	0.09304	TGG	RWDD2B	-	NULL		0.592	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2B	HGNC	protein_coding	OTTHUMT00000171858.1	C			30391569	-1	no_errors	ENST00000493196	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30391569	C	G	30391569	3	3	74	1	0	0	0	0	1	0	0	0	13786	856	30	1	949	1	RWDD2B	21	30391569	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	14052205	30391569	17738326	1033	11728										
KRTAP27-1	643812	genome.wustl.edu	37	chr21	31709821	31709821	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catttggcagctggtggtttCattgcaggtttcttgaaagt	12	6	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:31709821C>T	ENST00000382835.2	-	1	191	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	56						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGGTGGTTTCATTGCAGGTT	0.443																																																	0													161	152	155					21																	31709821		2203	4300	6503	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.166G>A	21.37:g.31709821C>T	ENSP00000372286:p.Glu56Lys			Missense_Mutation	SNP	pfam_PMG	p.E56K	ENST00000382835.2	37	c.166	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	C	8.644	0.896758	0.17686	.	.	ENSG00000206107	ENST00000382835	T	0.08807	3.05	4.34	2.38	0.29361	.	0.539186	0.16418	N	0.215296	T	0.09024	0.0223	M	0.74647	2.275	0.09310	N	1	P	0.37423	0.594	B	0.31337	0.128	T	0.21965	-1.0230	10	0.42905	T	0.14	-1.0987	4.9523	0.14021	0.0:0.6594:0.214:0.1266	.	56	Q3LI81	KR271_HUMAN	K	56	ENSP00000372286:E56K	ENSP00000372286:E56K	E	-	1	0	KRTAP27-1	30631692	0.879000	0.30193	0.006000	0.13384	0.236000	0.25371	1.601000	0.36773	0.672000	0.31204	0.591000	0.81541	GAA	KRTAP27-1	-	pfam_PMG		0.443	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	C	NM_001077711		31709821	-1	no_errors	ENST00000382835	ensembl	human	known	70_37	missense	SNP	0.008	T	T	31709821	C	T	31709821	3	4	74	1	0	0	0	0	1	0	0	0	8564	835	29	1	461	1	KRTAP27-1	21	31709821	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1318252	31709821	16420074	1034	11729										
IFNAR2	3455	genome.wustl.edu	37	chr21	34635430	34635430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctcagcagttggaactcttGagtgggccctgtgagaggag	15	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:34635430G>C	ENST00000342136.4	+	9	1499	c.1173G>C	c.(1171-1173)ttG>ttC	p.L391F	IFNAR2_ENST00000382241.3_Missense_Mutation_p.L391F|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	391					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TGGAACTCTTGAGTGGGCCCT	0.577																																																	0													67	72	71					21																	34635430		2203	4300	6503	SO:0001583	missense	3455				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1173G>C	21.37:g.34635430G>C	ENSP00000343957:p.Leu391Phe		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.L391F	ENST00000342136.4	37	c.1173	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594839	0.28445	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.22743	1.94;1.94	4.12	-5.24	0.02789	.	5.888880	0.00166	N	0.000001	T	0.12987	0.0315	N	0.22421	0.69	0.09310	N	1	B	0.32010	0.351	B	0.29785	0.107	T	0.17992	-1.0351	10	0.42905	T	0.14	.	6.2248	0.20701	0.2291:0.3028:0.4681:0.0	.	391	P48551	INAR2_HUMAN	F	391	ENSP00000371676:L391F;ENSP00000343957:L391F	ENSP00000343957:L391F	L	+	3	2	IFNAR2	33557300	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.513000	0.06305	-0.958000	0.03622	0.563000	0.77884	TTG	IFNAR2	-	NULL		0.577	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	HGNC	protein_coding	OTTHUMT00000139825.1	G			34635430	1	no_errors	ENST00000342136	ensembl	human	known	70_37	missense	SNP	0.000	C	C	34635430	G	C	34635430	3	2	74	1	0	0	0	0	1	0	0	0	7565	1281	45	1	1363	1	IFNAR2	21	34635430	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2925609	34635430	13494465	1035	11730										
IFNAR2	3455	genome.wustl.edu	37	chr21	34635553	34635553	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacttaaactctgtgtttttGagagttcttgatgacgagga	11	5	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:34635553G>C	ENST00000342136.4	+	9	1622	c.1296G>C	c.(1294-1296)ttG>ttC	p.L432F	IFNAR2_ENST00000382241.3_Missense_Mutation_p.L432F|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	432					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CTGTGTTTTTGAGAGTTCTTG	0.502																																																	0													228	232	230					21																	34635553		2203	4300	6503	SO:0001583	missense	3455				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1296G>C	21.37:g.34635553G>C	ENSP00000343957:p.Leu432Phe		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.L432F	ENST00000342136.4	37	c.1296	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560556	0.27827	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.34072	1.38;1.38	4.75	2.87	0.33458	.	6.823810	0.00520	N	0.000191	T	0.30510	0.0767	L	0.29908	0.895	0.21020	N	0.999803	P	0.46512	0.879	B	0.40329	0.326	T	0.23404	-1.0189	10	0.62326	D	0.03	.	6.1597	0.20358	0.1018:0.1908:0.7074:0.0	.	432	P48551	INAR2_HUMAN	F	432	ENSP00000371676:L432F;ENSP00000343957:L432F	ENSP00000343957:L432F	L	+	3	2	IFNAR2	33557423	0.996000	0.38824	0.287000	0.24848	0.020000	0.10135	1.356000	0.34079	0.671000	0.31185	0.655000	0.94253	TTG	IFNAR2	-	NULL		0.502	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	HGNC	protein_coding	OTTHUMT00000139825.1	G			34635553	1	no_errors	ENST00000342136	ensembl	human	known	70_37	missense	SNP	0.370	C	C	34635553	G	C	34635553	3	2	74	1	0	0	0	0	1	0	0	0	7565	1281	45	1	1486	1	IFNAR2	21	34635553	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	123	34635553	13494342	1036	11731										
SLC5A3	6526	genome.wustl.edu	37	chr21	35469242	35469242	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtgagaataatgagaccaTcaaccacatcattcccaacg	6	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:35469242T>G	ENST00000381151.3	+	2	2257	c.1745T>G	c.(1744-1746)aTc>aGc	p.I582S	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.I582S|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	582					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AATGAGACCATCAACCACATC	0.463																																																	0													134	119	124					21																	35469242		2203	4300	6503	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1745T>G	21.37:g.35469242T>G	ENSP00000370543:p.Ile582Ser		O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I582S	ENST00000381151.3	37	c.1745	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282962	0.23392	.	.	ENSG00000198743	ENST00000381151	D	0.86865	-2.18	5.55	-1.1	0.09872	.	0.758082	0.12224	N	0.488084	T	0.66117	0.2757	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53092	-0.8487	10	0.09084	T	0.74	.	4.3687	0.11237	0.0:0.2805:0.3367:0.3828	.	582	P53794	SC5A3_HUMAN	S	582	ENSP00000370543:I582S	ENSP00000370543:I582S	I	+	2	0	SLC5A3	34391112	0.000000	0.05858	0.087000	0.20705	0.916000	0.54674	0.192000	0.17096	-0.065000	0.13021	0.533000	0.62120	ATC	SLC5A3	-	NULL		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	T			35469242	1	no_errors	ENST00000381151	ensembl	human	known	70_37	missense	SNP	0.000	G	G	35469242	T	G	35469242	3	3	74	1	0	0	0	0	1	0	0	0	14696	1435	50	5	1747	5	SLC5A3	21	35469242	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	833689	35469242	12660653	1037	11732										
KCNJ6	3763	genome.wustl.edu	37	chr21	39086715	39086715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caacgggatgaactccccctCcgaggtctgtttggatttga	11	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:39086715C>T	ENST00000609713.1	-	3	1334	c.745G>A	c.(745-747)Gag>Aag	p.E249K	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.E249K	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	249					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AACTCCCCCTCCGAGGTCTGT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)												0													97	98	98					21																	39086715		1912	4141	6053	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.745G>A	21.37:g.39086715C>T	ENSP00000477437:p.Glu249Lys		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.E249K	ENST00000609713.1	37	c.745	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	C	32	5.175865	0.94807	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.96651	-4.08;-4.08	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	H	0.97023	3.925	0.80722	D	1	P	0.39326	0.668	P	0.50109	0.631	D	0.98537	1.0630	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	249	P48051	IRK6_HUMAN	K	249	ENSP00000383330:E249K;ENSP00000288309:E249K	ENSP00000288309:E249K	E	-	1	0	KCNJ6	38008585	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39086715	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39086715	C	T	39086715	3	4	74	1	0	0	0	0	1	0	0	0	8075	864	30	1	534	1	KCNJ6	21	39086715	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3617473	39086715	9043180	1038	11733										
PWP2	5822	genome.wustl.edu	37	chr21	45547816	45547816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	actgcttaatttcccagggcGctgctgggcggccaccacca	11	15	0	0	rs373315890		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:45547816G>A	ENST00000291576.7	+	18	2271	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTCCCAGGGCGCTGCTGGGCG	0.483													G|||	1	0.000199681	0	0	5008	,	,		15089	0.001		0	False		,,,				2504	0																0													32	34	33					21																	45547816		2202	4300	6502	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2144G>A	21.37:g.45547816G>A	ENSP00000291576:p.Arg715His		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R715H	ENST00000291576.7	37	c.2144	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873965	0.51695	.	.	ENSG00000241945	ENST00000291576	T	0.62364	0.03	4.56	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);	0.105649	0.64402	N	0.000003	T	0.61999	0.2392	M	0.80028	2.48	0.47094	D	0.999319	B	0.25390	0.125	B	0.16289	0.015	T	0.64736	-0.6337	10	0.59425	D	0.04	-19.3044	11.7972	0.52106	0.0841:0.0:0.9159:0.0	.	715	Q15269	PWP2_HUMAN	H	715	ENSP00000291576:R715H	ENSP00000291576:R715H	R	+	2	0	PWP2	44372244	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.173000	0.58249	1.229000	0.43630	0.655000	0.94253	CGC	PWP2	-	smart_WD40_repeat		0.483	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	G	NM_005049		45547816	1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45547816	G	A	45547816	3	1	74	1	0	0	0	0	1	0	0	0	12874	1087	38	2	2214	2	PWP2	21	45547816	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6461101	45547816	2582079	1039	11734										
ITGB2	3689	genome.wustl.edu	37	chr21	46330647	46330647	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acacagaactcaccgcacccGagggagagcagccccaccag	10	17	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:46330647G>A	ENST00000397850.2	-	3	503	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ITGB2_ENST00000302347.5_Silent_p.L17L|ITGB2_ENST00000355153.4_Silent_p.L17L|ITGB2_ENST00000397852.1_Silent_p.L17L|ITGB2_ENST00000523126.1_5'Flank|ITGB2_ENST00000397857.1_Silent_p.L17L|ITGB2_ENST00000397854.3_Silent_p.L17L|ITGB2_ENST00000397846.3_Silent_p.L17L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	17					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACCGCACCCGAGGGAGAGCA	0.642																																																	0													45	47	46					21																	46330647		2203	4300	6503	SO:0001819	synonymous_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.51C>T	21.37:g.46330647G>A			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.L17	ENST00000397850.2	37	c.51	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu		0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	G	NM_000211		46330647	-1	no_errors	ENST00000302347	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46330647	G	A	46330647	2	1	74	1	0	0	0	0	0	0	0	1	7914	1045	37	1		1	ITGB2	21	46330647	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	782831	46330647	1799248	1040	11735										
CLTCL1	8218	genome.wustl.edu	37	chr22	19207507	19207507	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttttgaacagagaattctCattgcacacctgaaatgagc	8	9	1	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:19207507C>G	ENST00000263200.10	-	18	2878	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E936Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E936Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	936	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGAGAATTCTCATTGCACACC	0.552			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													141	140	140					22																	19207507		1980	4152	6132	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2806G>C	22.37:g.19207507C>G	ENSP00000445677:p.Glu936Gln		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E936Q	ENST00000263200.10	37	c.2806	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553771	0.65425	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26373	1.74;1.74;1.74	4.03	4.03	0.46877	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.38108	0.1028	M	0.80028	2.48	0.80722	D	1	B;B	0.22909	0.055;0.077	B;B	0.32149	0.063;0.141	T	0.47275	-0.9130	10	0.66056	D	0.02	-17.0209	16.3444	0.83118	0.0:1.0:0.0:0.0	.	936;936	P53675-2;P53675	.;CLH2_HUMAN	Q	936	ENSP00000439662:E936Q;ENSP00000445677:E936Q;ENSP00000441158:E936Q	ENSP00000445677:E936Q	E	-	1	0	CLTCL1	17587507	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.314000	0.65804	2.084000	0.62774	0.467000	0.42956	GAG	CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19207507	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19207507	C	G	19207507	3	3	74	1	0	0	0	0	1	0	0	0	3572	835	29	1	2176	1	CLTCL1	22	19207507	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09		19207507	32097059	1041	11736										
MMP11	4320	genome.wustl.edu	37	chr22	24124460	24124460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaaagccagtcctgggccccGcacccctcaccgagctgggc	11	18	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:24124460G>A	ENST00000215743.3	+	7	1175	c.1123G>A	c.(1123-1125)Gca>Aca	p.A375T		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	375					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	cctgggccccgcacccctcac	0.637																																																	0													59	58	58					22																	24124460		2203	4300	6503	SO:0001583	missense	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1123G>A	22.37:g.24124460G>A	ENSP00000215743:p.Ala375Thr		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.A375T	ENST00000215743.3	37	c.1123	CCDS13816.1	22	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098890	0.08681	.	.	ENSG00000099953	ENST00000215743	T	0.02197	4.4	4.93	3.9	0.45041	Hemopexin/matrixin (2);	0.486042	0.24527	N	0.037744	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	B	0.25904	0.137	B	0.23852	0.049	T	0.44711	-0.9310	10	0.56958	D	0.05	.	5.7271	0.18018	0.0917:0.0:0.5558:0.3525	.	375	P24347	MMP11_HUMAN	T	375	ENSP00000215743:A375T	ENSP00000215743:A375T	A	+	1	0	MMP11	22454460	0.971000	0.33674	0.477000	0.27303	0.168000	0.22595	3.968000	0.56809	1.455000	0.47813	0.585000	0.79938	GCA	MMP11	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.637	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	G	NM_005940		24124460	1	no_errors	ENST00000215743	ensembl	human	known	70_37	missense	SNP	0.028	A	A	24124460	G	A	24124460	3	1	74	1	0	0	0	0	1	0	0	0	9673	1087	38	2	1149	2	MMP11	22	24124460	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4916953	24124460	27180106	1042	11737										
ADRBK2	157	genome.wustl.edu	37	chr22	26040572	26040572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctttaggtttcttgctattTaaagatttttgtttgaatga	7	4	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:26040572T>G	ENST00000324198.6	+	3	396	c.204T>G	c.(202-204)ttT>ttG	p.F68L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	68	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTTGCTATTTAAAGATTTTT	0.299																																																	0													40	39	39					22																	26040572		2197	4275	6472	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.204T>G	22.37:g.26040572T>G	ENSP00000317578:p.Phe68Leu		Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.F68L	ENST00000324198.6	37	c.204	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	T	8.461	0.855247	0.17106	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.15372	2.43	4.68	2.51	0.30379	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.55103	1.725	0.58432	D	0.999994	P;B	0.36010	0.532;0.294	B;B	0.37267	0.146;0.245	T	0.03910	-1.0993	10	0.51188	T	0.08	-19.619	4.8341	0.13456	0.0:0.1002:0.19:0.7098	.	68;68	A8K869;P35626	.;ARBK2_HUMAN	L	68	ENSP00000317578:F68L	ENSP00000317578:F68L	F	+	3	2	ADRBK2	24370572	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	1.541000	0.36126	0.239000	0.21243	-0.321000	0.08615	TTT	ADRBK2	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.299	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	T	NM_005160		26040572	1	no_errors	ENST00000324198	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26040572	T	G	26040572	3	3	74	1	0	0	0	0	1	0	0	0	344	1751	61	5	214	5	ADRBK2	22	26040572	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1916112	26040572	25263994	1043	11738										
KREMEN1	83999	genome.wustl.edu	37	chr22	29490296	29490296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggggaacacagaactggacaGcactacaaggcgggaagcca	14	10	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:29490296G>T	ENST00000407188.1	+	2	142	c.142G>T	c.(142-144)Gca>Tca	p.A48S	KREMEN1_ENST00000400335.4_Missense_Mutation_p.A50S|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A50S|KREMEN1_ENST00000400338.2_Missense_Mutation_p.A50S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	48	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GAACTGGACAGCACTACAAGG	0.483																																																	0													119	115	116					22																	29490296		1923	4133	6056	SO:0001583	missense	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.142G>T	22.37:g.29490296G>T	ENSP00000385431:p.Ala48Ser		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd	p.A50S	ENST00000407188.1	37	c.148	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011329	0.07912	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.99	3.94	0.45596	.	0.098941	0.42548	D	0.000699	T	0.29588	0.0738	N	0.01576	-0.805	0.31704	N	0.640375	B;B	0.13145	0.006;0.007	B;B	0.15484	0.013;0.011	T	0.27088	-1.0084	10	0.08837	T	0.75	.	10.6387	0.45579	0.0:0.0:0.6518:0.3482	.	50;50	Q96MU8-2;Q96MU8-3	.;.	S	50;50;50;48	ENSP00000383189:A50S;ENSP00000383192:A50S;ENSP00000331242:A50S;ENSP00000385431:A48S	ENSP00000331242:A50S	A	+	1	0	KREMEN1	27820296	0.966000	0.33281	0.970000	0.41538	0.997000	0.91878	1.865000	0.39479	1.200000	0.43188	0.650000	0.86243	GCA	KREMEN1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Kremen,pfscan_Kringle		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	G			29490296	1	no_errors	ENST00000327813	ensembl	human	known	70_37	missense	SNP	0.999	T	T	29490296	G	T	29490296	3	4	74	1	0	0	0	0	1	0	0	0	8462	971	34	4	154	4	KREMEN1	22	29490296	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3449724	29490296	21814270	1044	11739										
OSBP2	23762	genome.wustl.edu	37	chr22	31266552	31266552	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccaagcacggcgctgcactCcagcgctccctgacagagct	11	17	0	2	rs61729255	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31266552C>G	ENST00000332585.6	+	3	1094	c.990C>G	c.(988-990)ctC>ctG	p.L330L	OSBP2_ENST00000403222.3_Silent_p.L165L|OSBP2_ENST00000407373.1_Silent_p.L157L|OSBP2_ENST00000382310.3_Silent_p.L330L|OSBP2_ENST00000437268.2_Silent_p.L72L|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.L330L	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	330					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCGCTGCACTCCAGCGCTCCC	0.582																																																	0													63	70	68					22																	31266552		2153	4245	6398	SO:0001819	synonymous_variant	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.990C>G	22.37:g.31266552C>G			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L330	ENST00000332585.6	37	c.990	CCDS43002.1	22																																																																																			OSBP2	-	NULL		0.582	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	C	NM_030758		31266552	1	no_errors	ENST00000332585	ensembl	human	known	70_37	silent	SNP	0.999	G	G	31266552	C	G	31266552	2	3	74	1	0	0	0	0	0	0	0	1	11298	842	30	1		1	OSBP2	22	31266552	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1776256	31266552	20038014	1045	11740										
OSBP2	23762	genome.wustl.edu	37	chr22	31266626	31266626	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaagctgaaggtggtgaatgAgcgggccaccctcttccgca	14	11	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31266626A>T	ENST00000332585.6	+	3	1168	c.1064A>T	c.(1063-1065)gAg>gTg	p.E355V	OSBP2_ENST00000403222.3_Missense_Mutation_p.E190V|OSBP2_ENST00000407373.1_Missense_Mutation_p.E182V|OSBP2_ENST00000382310.3_Missense_Mutation_p.E355V|OSBP2_ENST00000437268.2_Missense_Mutation_p.E97V|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Missense_Mutation_p.E355V	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	355					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGGTGAATGAGCGGGCCACC	0.642																																																	0													55	64	61					22																	31266626		2138	4246	6384	SO:0001583	missense	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1064A>T	22.37:g.31266626A>T	ENSP00000332576:p.Glu355Val		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E355V	ENST00000332585.6	37	c.1064	CCDS43002.1	22	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789241	0.90367	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	T;T;T;T;T;T	0.60299	0.55;0.56;1.14;0.93;1.14;0.2	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	M	0.91249	3.19	0.80722	D	1	D;B;D;D;D;D	0.89917	1.0;0.402;1.0;1.0;1.0;1.0	D;B;D;D;D;D	0.97110	1.0;0.253;1.0;1.0;0.999;0.999	D	0.85108	0.0961	10	0.87932	D	0	.	13.9121	0.63873	1.0:0.0:0.0:0.0	.	97;355;190;182;355;355	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	V	190;182;355;355;355;97	ENSP00000384213:E190V;ENSP00000385237:E182V;ENSP00000332576:E355V;ENSP00000371747:E355V;ENSP00000392080:E355V;ENSP00000389200:E97V	ENSP00000332576:E355V	E	+	2	0	OSBP2	29596626	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	8.866000	0.92307	1.960000	0.56953	0.533000	0.62120	GAG	OSBP2	-	NULL		0.642	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	A	NM_030758		31266626	1	no_errors	ENST00000332585	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31266626	A	T	31266626	3	4	74	1	0	0	0	0	1	0	0	0	11298	304	11	5	1074	5	OSBP2	22	31266626	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	74	31266626	20037940	1046	11741										
SMTN	6525	genome.wustl.edu	37	chr22	31487222	31487222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaggagtagcccagcccctgGcccagcttcgaagctgcccc	12	17	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31487222G>A	ENST00000347557.2	+	10	1431	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	SMTN_ENST00000358743.1_Missense_Mutation_p.A405T|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Missense_Mutation_p.A405T	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	405					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCCCCTGGCCCAGCTTCG	0.687																																																	0													9	12	11					22																	31487222		2186	4261	6447	SO:0001583	missense	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1213G>A	22.37:g.31487222G>A	ENSP00000328635:p.Ala405Thr		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A405T	ENST00000347557.2	37	c.1213	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896593	0.52121	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.71817	-0.17;-0.6;-0.59	5.05	4.04	0.47022	.	.	.	.	.	T	0.67401	0.2889	L	0.54323	1.7	0.80722	D	1	P;P;D;P;P;P	0.54397	0.728;0.873;0.966;0.773;0.91;0.926	B;B;P;B;B;P	0.48334	0.138;0.387;0.505;0.253;0.294;0.574	T	0.63559	-0.6610	9	0.22706	T	0.39	-17.4868	9.7453	0.40442	0.0784:0.1413:0.7802:0.0	.	461;459;397;405;405;405	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	T	405;405;405;403;397	ENSP00000351593:A405T;ENSP00000328635:A405T;ENSP00000329532:A405T	ENSP00000329393:A403T	A	+	1	0	SMTN	29817222	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	1.824000	0.39072	1.281000	0.44480	0.491000	0.48974	GCC	SMTN	-	NULL		0.687	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	G	NM_134270		31487222	1	no_errors	ENST00000347557	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31487222	G	A	31487222	3	1	74	1	0	0	0	0	1	0	0	0	14844	1203	42	4	1247	4	SMTN	22	31487222	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	220596	31487222	19817344	1047	11742										
LIMK2	3985	genome.wustl.edu	37	chr22	31668596	31668596	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agggcccccatggagaaggcCaccaccaagaaacgcacctt	10	15	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31668596C>A	ENST00000331728.4	+	13	1578	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	LIMK2_ENST00000333611.4_Silent_p.A467A|LIMK2_ENST00000340552.4_Silent_p.A467A|LIMK2_ENST00000406516.1_Silent_p.A410A|LIMK2_ENST00000444929.2_Silent_p.A242A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGGAGAAGGCCACCACCAAGA	0.567																																																	0													99	91	94					22																	31668596		2203	4300	6503	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1464C>A	22.37:g.31668596C>A			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A488	ENST00000331728.4	37	c.1464	CCDS13891.1	22																																																																																			LIMK2	-	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,pfscan_Prot_kinase_cat_dom		0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	C	NM_016733		31668596	1	no_errors	ENST00000331728	ensembl	human	known	70_37	silent	SNP	0.010	A	A	31668596	C	A	31668596	2	1	74	1	0	0	0	0	0	0	0	1	8822	581	21	4		4	LIMK2	22	31668596	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	181374	31668596	19635970	1048	11743										
HMGXB4	10042	genome.wustl.edu	37	chr22	35660965	35660965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggtttaaaaatgaaacttaTtctgtcaccaaaggagaagg	9	5	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:35660965T>G	ENST00000216106.5	+	5	712	c.584T>G	c.(583-585)aTt>aGt	p.I195S	HMGXB4_ENST00000444518.2_Missense_Mutation_p.I86S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	195					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGAAACTTATTCTGTCACCA	0.433																																																	0													126	135	132					22																	35660965		2203	4300	6503	SO:0001583	missense	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.584T>G	22.37:g.35660965T>G	ENSP00000216106:p.Ile195Ser		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.I195S	ENST00000216106.5	37	c.584	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688391	0.68271	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.88	5.88	0.94601	.	0.095313	0.64402	D	0.000002	T	0.67031	0.2850	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.65697	-0.6105	10	0.37606	T	0.19	-4.4881	16.2948	0.82765	0.0:0.0:0.0:1.0	.	195	Q9UGU5	HMGX4_HUMAN	S	86;86;86;195	ENSP00000401658:I86S;ENSP00000398302:I86S;ENSP00000415500:I86S;ENSP00000216106:I195S	ENSP00000216106:I195S	I	+	2	0	HMGXB4	33990965	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	6.701000	0.74624	2.253000	0.74438	0.455000	0.32223	ATT	HMGXB4	-	NULL		0.433	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	T	NM_005487		35660965	1	no_errors	ENST00000216106	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35660965	T	G	35660965	3	3	74	1	0	0	0	0	1	0	0	0	7259	1493	52	5	598	5	HMGXB4	22	35660965	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3992369	35660965	15643601	1049	11744										
MYH9	4627	genome.wustl.edu	37	chr22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttggggaaccagcactcctCgtccagcagggccagaatgc	12	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - Missense(1)	prostate(1)											81	70	73					22																	36708234		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1588G>A	22.37:g.36708234C>T	ENSP00000216181:p.Glu530Lys		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E530K	ENST00000216181.5	37	c.1588	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.433500	0.96150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80653	-1.4	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96569	0.9421	10	0.87932	D	0	.	17.3444	0.87306	0.0:1.0:0.0:0.0	.	530	P35579	MYH9_HUMAN	K	394;530	ENSP00000216181:E530K	ENSP00000216181:E530K	E	-	1	0	MYH9	35038180	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	7.818000	0.86416	2.258000	0.74832	0.561000	0.74099	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36708234	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36708234	C	T	36708234	3	4	74	1	0	0	0	0	1	0	0	0	10065	893	31	1	4406	1	MYH9	22	36708234	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1047269	36708234	14596332	1050	11745										
GCAT	23464	genome.wustl.edu	37	chr22	38206067	38206067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctgtgccaacaactacctggGcctgagcagccaccctgagg	11	15	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:38206067G>A	ENST00000248924.6	+	2	286	c.230G>A	c.(229-231)gGc>gAc	p.G77D	GCAT_ENST00000323205.6_Missense_Mutation_p.G103D|GCAT_ENST00000415371.1_Intron	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	77					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	AACTACCTGGGCCTGAGCAGC	0.572																																																	0													89	68	75					22																	38206067		2203	4300	6503	SO:0001583	missense	23464			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.230G>A	22.37:g.38206067G>A	ENSP00000248924:p.Gly77Asp		E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.G77D	ENST00000248924.6	37	c.230	CCDS13957.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	29.5|29.5	5.010863|5.010863	0.93346|0.93346	.|.	.|.	ENSG00000100116|ENSG00000100116	ENST00000451984|ENST00000323205;ENST00000248924;ENST00000445195;ENST00000394944	.|D;D;D	.|0.96200	.|-3.94;-3.94;-3.94	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98381|0.98381	0.9462|0.9462	M|M	0.93638|0.93638	3.44|3.44	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99357|0.99357	1.0916|1.0916	5|10	.|0.87932	.|D	.|0	-32.6776|-32.6776	18.6577|18.6577	0.91460|0.91460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;77	.|E2QC23;O75600	.|.;KBL_HUMAN	T|D	62|103;77;103;103	.|ENSP00000371110:G103D;ENSP00000248924:G77D;ENSP00000406719:G103D	.|ENSP00000248924:G77D	A|G	+|+	1|2	0|0	GCAT|GCAT	36536013|36536013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.683000|8.683000	0.91236|0.91236	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	GCC|GGC	GCAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase		0.572	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2		38206067	1	no_errors	ENST00000248924	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38206067	G	A	38206067	3	1	74	1	0	0	0	0	1	0	0	0	6303	1203	42	4	314	4	GCAT	22	38206067	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1497833	38206067	13098499	1051	11746										
MGAT3	4248	genome.wustl.edu	37	chr22	39883698	39883698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcgcaccaaggccggcggcGtctgcttcaaacccggcacc	12	17	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:39883698G>A	ENST00000341184.6	+	2	561	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	116					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCCGGCGGCGTCTGCTTCAA	0.726																																																	0													7	10	9					22																	39883698		2150	4230	6380	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.346G>A	22.37:g.39883698G>A	ENSP00000345270:p.Val116Ile		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.V116I	ENST00000341184.6	37	c.346	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073273	0.20147	.	.	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	5.03	5.03	0.67393	.	0.076029	0.52532	D	0.000068	T	0.44746	0.1308	L	0.27053	0.805	0.35380	D	0.789878	B	0.19445	0.036	B	0.09377	0.004	T	0.53251	-0.8465	9	0.46703	T	0.11	.	13.6987	0.62595	0.077:0.0:0.923:0.0	.	116	Q09327	MGAT3_HUMAN	I	116	.	ENSP00000345270:V116I	V	+	1	0	MGAT3	38213644	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	2.080000	0.41586	2.338000	0.79540	0.467000	0.42956	GTC	MGAT3	-	NULL		0.726	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	G	NM_002409		39883698	1	no_errors	ENST00000341184	ensembl	human	known	70_37	missense	SNP	0.996	A	A	39883698	G	A	39883698	3	1	74	1	0	0	0	0	1	0	0	0	9567	1145	40	2	348	2	MGAT3	22	39883698	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1677631	39883698	11420868	1052	11747										
EP300	2033	genome.wustl.edu	37	chr22	41537053	41537053	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tacttcaacaattcaaaaggCggaatactaccaccttctag	5	11	3	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:41537053C>T	ENST00000263253.7	+	10	3099	c.1880C>T	c.(1879-1881)gCg>gTg	p.A627V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	627	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATTCAAAAGGCGGAATACTAC	0.348			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													38	38	38					22																	41537053		2203	4300	6503	SO:0001630	splice_region_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1879-1C>T	22.37:g.41537053C>T			B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A627V	ENST00000263253.7	37	c.1880	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254760	0.80135	.	.	ENSG00000100393	ENST00000263253	D	0.83755	-1.76	5.18	5.18	0.71444	Coactivator CBP, KIX (4);	0.142200	0.31301	N	0.007884	D	0.85544	0.5721	N	0.22421	0.69	0.46376	D	0.999015	D	0.76494	0.999	D	0.77557	0.99	D	0.87025	0.2131	10	0.56958	D	0.05	-6.4669	17.2256	0.86969	0.0:1.0:0.0:0.0	.	627	Q09472	EP300_HUMAN	V	627	ENSP00000263253:A627V	ENSP00000263253:A627V	A	+	2	0	EP300	39866999	0.958000	0.32768	1.000000	0.80357	0.947000	0.59692	1.978000	0.40598	2.561000	0.86390	0.467000	0.42956	GCG	EP300	-	pfam_KIX,superfamily_KIX,pfscan_KIX		0.348	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429	Missense_Mutation	41537053	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41537053	C	T	41537053	5	4	74	1	0	0	0	0	0	0	1	0	5160	782	27	2	1918	2	EP300	22	41537053	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1653355	41537053	9767513	1053	11748										
CYP2D6	1565	genome.wustl.edu	37	chr22	42525885	42525885	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtccaggccagctgcaggctGaacacgtccccgaagcggcg	14	15	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:42525885G>A	ENST00000360608.5	-	2	321	c.207C>T	c.(205-207)ttC>ttT	p.F69F	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.F69F|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.F69F	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	69					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCAGGCTGAACACGTCCC	0.687																																																	0													6	8	7					22																	42525885		1984	3939	5923	SO:0001819	synonymous_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.207C>T	22.37:g.42525885G>A			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F69	ENST00000360608.5	37	c.207	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	G			42525885	-1	no_errors	ENST00000360608	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42525885	G	A	42525885	2	1	74	1	0	0	0	0	0	0	0	1	4174	1281	45	1		1	CYP2D6	22	42525885	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	988832	42525885	8778681	1054	11749										
ARFGAP3	26286	genome.wustl.edu	37	chr22	43213779	43213780	+	Frame_Shift_Ins	INS	-	-	T													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgagtctgtctgagtcaacaINSttttttttgccactaatgtt					rs552164906		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:43213779_43213780insT	ENST00000263245.5	-	10	1115_1116	c.896_897insA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Ins_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Ins_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGAGTCAACATTTTTTTTGCC	0.361																																					GBM(58;544 1030 21460 27159 48838)												0																																										SO:0001589	frameshift_variant	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.897dupA	22.37:g.43213787_43213787dupT	ENSP00000263245:p.Asn299fs		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Ins	INS	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.N299fs	ENST00000263245.5	37	c.897_896	CCDS14042.1	22																																																																																			ARFGAP3	-	NULL		0.361	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP3	HGNC	protein_coding	OTTHUMT00000319747.2	-	NM_014570		43213780	-1	no_errors	ENST00000263245	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.002	T	T	43213780	-	T	43213779	7	5	74	1	0	1	1	0	0	0	0	0	851	214	8	0	681	0	ARFGAP3	22	43213779	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	687894	43213779	8090787	1055	11750										
EFCAB6	64800	genome.wustl.edu	37	chr22	44063043	44063043	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgctgaagtcaagaaatcGttttttgaatgccgggtcct	10	8	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:44063043G>A	ENST00000262726.7	-	17	2177	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R490*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	642	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCAAGAAATCGTTTTTTGAAT	0.408																																																	0													205	198	200					22																	44063043		2203	4300	6503	SO:0001587	stop_gained	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1924C>T	22.37:g.44063043G>A	ENSP00000262726:p.Arg642*		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R642*	ENST00000262726.7	37	c.1924	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	39	7.878223	0.98539	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.49	-2.07	0.07276	.	2.527490	0.01706	N	0.027456	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	0.319	0.8466	0.01162	0.1894:0.1466:0.3317:0.3324	.	.	.	.	X	490;642	.	ENSP00000262726:R642X	R	-	1	2	EFCAB6	42394376	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	-0.066000	0.11598	-0.066000	0.12998	0.650000	0.86243	CGA	EFCAB6	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	G	NM_022785		44063043	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	44063043	G	A	44063043	4	1	74	1	0	0	0	0	0	1	0	0	4949	1153	40	2	2645	2	EFCAB6	22	44063043	Nonsense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	849264	44063043	7241523	1056	11751										
PARVB	29780	genome.wustl.edu	37	chr22	44514992	44514992	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagctggaggaagacctgtaTgacggccaggtgctgcagaa	15	9	0	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:44514992T>A	ENST00000338758.7	+	4	411	c.348T>A	c.(346-348)taT>taA	p.Y116*	PARVB_ENST00000406477.3_Nonsense_Mutation_p.Y149*|PARVB_ENST00000404989.1_Nonsense_Mutation_p.Y79*	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	116	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AAGACCTGTATGACGGCCAGG	0.602																																																	0													177	154	161					22																	44514992		2203	4300	6503	SO:0001587	stop_gained	29780			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.348T>A	22.37:g.44514992T>A	ENSP00000342492:p.Tyr116*		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Nonsense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Y149*	ENST00000338758.7	37	c.447	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514867	0.27123	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	.	.	.	4.92	-4.73	0.03259	.	0.125095	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2594	13.2763	0.60189	0.0:0.2244:0.0:0.7756	.	.	.	.	X	149;116;116;114;79	.	ENSP00000342492:Y116X	Y	+	3	2	PARVB	42846325	0.025000	0.19082	0.220000	0.23810	0.010000	0.07245	-1.015000	0.03637	-1.048000	0.03238	-3.356000	0.00042	TAT	PARVB	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.602	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2	T	NM_001003828		44514992	1	no_errors	ENST00000406477	ensembl	human	known	70_37	nonsense	SNP	0.890	A	A	44514992	T	A	44514992	4	1	74	1	0	0	0	0	0	1	0	0	11493	1471	51	5	581	5	PARVB	22	44514992	Nonsense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	451949	44514992	6789574	1057	11752										
REPS2	9185	genome.wustl.edu	37	chrX	17095395	17095395	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcccttattttgctacagaTcttactctagcacctccata	3	13	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:17095395T>G	ENST00000357277.3	+	13	1552	c.1381T>G	c.(1381-1383)Tct>Gct	p.S461A	REPS2_ENST00000469714.1_Intron|REPS2_ENST00000303843.7_Splice_Site_p.S460A|REPS2_ENST00000380064.4_Intron	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	461					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TTGCTACAGATCTTACTCTAG	0.498																																																	0													147	153	151					X																	17095395		2203	4300	6503	SO:0001630	splice_region_variant	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1380-1T>G	X.37:g.17095395T>G			A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.S461A	ENST00000357277.3	37	c.1381	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528266	0.85706	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843	T;T	0.35789	1.3;1.29	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000008	T	0.60301	0.2258	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.83275	0.996;0.675	T	0.60495	-0.7252	10	0.33141	T	0.24	-15.7802	14.4246	0.67207	0.0:0.0:0.0:1.0	.	460;461	Q8NFH8-4;Q8NFH8	.;REPS2_HUMAN	A	461;461;460	ENSP00000349824:S461A;ENSP00000306033:S460A	ENSP00000306033:S460A	S	+	1	0	REPS2	17005316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.852000	0.75430	1.866000	0.54105	0.441000	0.28932	TCT	REPS2	-	NULL		0.498	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	T	NM_004726	Missense_Mutation	17095395	1	no_errors	ENST00000357277	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17095395	T	G	17095395	5	3	74	1	0	0	0	0	0	0	1	0	13259	1449	50	5	1431	5	REPS2	23	17095395	Splice_Site	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09		17095395	138175165	1058	11753										
CXorf23	256643	genome.wustl.edu	37	chrX	19973590	19973590	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agtattctgagttgagtcaaGatgttcaaacactggatgaa	10	5	3	4			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:19973590G>T	ENST00000379682.4	-	4	1402	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	CXorf23_ENST00000356980.3_Missense_Mutation_p.L457I|CXorf23_ENST00000379687.3_Missense_Mutation_p.L457I			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	457						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GTTGAGTCAAGATGTTCAAAC	0.378																																																	0													163	138	147					X																	19973590		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1369C>A	X.37:g.19973590G>T	ENSP00000369004:p.Leu457Ile		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.L457I	ENST00000379682.4	37	c.1369		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.808641|2.808641	0.50421|0.50421	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.12984|.	2.63;2.63;2.63|.	5.88|5.88	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.21240|0.21240	0.645|0.645	0.28786|0.28786	N|N	0.899559|0.899559	P;D;D|.	0.61697|.	0.687;0.99;0.99|.	B;P;P|.	0.57152|.	0.391;0.814;0.814|.	T|T	0.11916|0.11916	-1.0568|-1.0568	8|5	.|.	.|.	.|.	.|.	6.1779|6.1779	0.20455|0.20455	0.0929:0.0:0.6553:0.2518|0.0929:0.0:0.6553:0.2518	.|.	168;457;457|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	I|Y	457;457;457;345|65	ENSP00000369009:L457I;ENSP00000369004:L457I;ENSP00000349470:L457I|.	.|.	L|S	-|-	1|2	0|0	CXorf23|CXorf23	19883511|19883511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.720000|2.720000	0.47252|0.47252	2.474000|2.474000	0.83562|0.83562	0.600000|0.600000	0.82982|0.82982	CTT|TCT	CXorf23	-	NULL		0.378	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	G	NM_198279		19973590	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19973590	G	T	19973590	3	4	74	1	0	0	0	0	1	0	0	0	4108	942	33	3	711	3	CXorf23	23	19973590	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2878195	19973590	135296970	1059	11754										
POLA1	5422	genome.wustl.edu	37	chrX	24859948	24859948	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ataatgtctttgatggttcgGttagttgtttctgtctttca	9	5	4	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:24859948G>C	ENST00000379059.3	+	33	3912		c.e33+1		POLA1_ENST00000379068.3_Splice_Site	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGATGGTTCGGTTAGTTGTTT	0.398																																																	0													241	214	223					X																	24859948		2203	4300	6503	SO:0001630	splice_region_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3897+1G>C	X.37:g.24859948G>C			Q86UQ7	Splice_Site	SNP	-	e33+1	ENST00000379059.3	37	c.3915+1	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156652	0.57259	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0199	0.89252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLA1	24769869	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.585000	0.90802	2.277000	0.76020	0.538000	0.68166	.	POLA1	-	-		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	G	NM_016937	Intron	24859948	1	no_errors	ENST00000379068	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	24859948	G	C	24859948	5	2	74	1	0	0	0	0	0	0	1	0	12211	1275	44	4	4028	4	POLA1	23	24859948	Splice_Site	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4886358	24859948	130410612	1060	11755										
ARX	170302	genome.wustl.edu	37	chrX	25031391	25031391	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtcgtcctccagcagttcctCttcctcgtcctcatcttctt	5	17	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:25031391C>G	ENST00000379044.4	-	2	931	c.721G>C	c.(721-723)Gag>Cag	p.E241Q		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	241	Glu-rich.				axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						agcagttcctcttcctcgtcc	0.726																																																	0													15	10	12					X																	25031391		2076	4071	6147	SO:0001583	missense	170302			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.721G>C	X.37:g.25031391C>G	ENSP00000368332:p.Glu241Gln			Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_Antifreeze_1	p.E241Q	ENST00000379044.4	37	c.721	CCDS14215.1	X	.	.	.	.	.	.	.	.	.	.	c	11.73	1.724881	0.30593	.	.	ENSG00000004848	ENST00000379044	D	0.90133	-2.62	3.93	3.93	0.45458	.	0.000000	0.44483	U	0.000445	D	0.84804	0.5553	L	0.40543	1.245	0.35365	D	0.78854	P	0.49185	0.92	B	0.38056	0.264	D	0.89215	0.3567	10	0.62326	D	0.03	.	12.7619	0.57370	0.0:1.0:0.0:0.0	.	241	Q96QS3	ARX_HUMAN	Q	241	ENSP00000368332:E241Q	ENSP00000368332:E241Q	E	-	1	0	ARX	24941312	0.949000	0.32298	0.995000	0.50966	0.548000	0.35241	1.239000	0.32719	1.555000	0.49500	0.339000	0.21740	GAG	ARX	-	NULL		0.726	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARX	HGNC	protein_coding	OTTHUMT00000056109.1	C			25031391	-1	no_errors	ENST00000379044	ensembl	human	known	70_37	missense	SNP	0.999	G	G	25031391	C	G	25031391	3	3	74	1	0	0	0	0	1	0	0	0	1005	922	32	1	983	1	ARX	23	25031391	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	171443	25031391	130239169	1061	11756										
MAGEB6	158809	genome.wustl.edu	37	chrX	26212649	26212649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaagtgtgtccgcagagagtAcaagccctacttccctcaga	10	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:26212649A>G	ENST00000379034.1	+	2	835	c.686A>G	c.(685-687)tAc>tGc	p.Y229C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	229	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCAGAGAGTACAAGCCCTAC	0.493																																																	0													81	66	71					X																	26212649		2202	4300	6502	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.686A>G	X.37:g.26212649A>G	ENSP00000368320:p.Tyr229Cys		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Y229C	ENST00000379034.1	37	c.686	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683868	0.29872	.	.	ENSG00000176746	ENST00000379034	T	0.05717	3.4	3.1	1.95	0.26073	.	0.000000	0.64402	U	0.000002	T	0.20333	0.0489	M	0.83953	2.67	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04041	-1.0982	10	0.59425	D	0.04	.	4.2953	0.10899	0.8389:0.0:0.1611:0.0	.	229	Q8N7X4	MAGB6_HUMAN	C	229	ENSP00000368320:Y229C	ENSP00000368320:Y229C	Y	+	2	0	MAGEB6	26122570	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	1.150000	0.31639	0.450000	0.26774	0.481000	0.45027	TAC	MAGEB6	-	pfam_MAGE,pfscan_MAGE		0.493	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	A	NM_173523		26212649	1	no_errors	ENST00000379034	ensembl	human	known	70_37	missense	SNP	0.002	G	G	26212649	A	G	26212649	3	3	74	1	0	0	0	0	1	0	0	0	9202	391	14	5	688	5	MAGEB6	23	26212649	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1181258	26212649	129057911	1062	11757										
TAB3	257397	genome.wustl.edu	37	chrX	30872356	30872356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggttctggtgctgcagagcGctcttcttggtccactaaat	11	10	3	1	rs141293756		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:30872356G>A	ENST00000378933.1	-	3	1603	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	TAB3_ENST00000288422.2_Missense_Mutation_p.R476C|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.R476C|TAB3_ENST00000378930.3_Missense_Mutation_p.R476C|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	476					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTGCAGAGCGCTCTTCTTGG	0.443																																					Pancreas(164;1598 1985 29022 43301 49529)												0								G	CYS/ARG	1,3832		0,1,1630,571	87	82	84		1426	4.9	1	X	dbSNP_134	84	0,6728		0,0,2428,1872	no	missense	TAB3	NM_152787.3	180	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	476/713	30872356	1,10560	2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1426C>T	X.37:g.30872356G>A	ENSP00000368215:p.Arg476Cys		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.R476C	ENST00000378933.1	37	c.1426	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907797	0.72868	2.61E-4	0.0	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.72	4.94	4.94	0.65067	.	0.148925	0.64402	D	0.000008	T	0.69886	0.3161	N	0.22421	0.69	0.58432	D	0.999999	D;D	0.69078	0.971;0.997	P;P	0.48795	0.59;0.548	T	0.75348	-0.3349	10	0.62326	D	0.03	-2.3808	17.6096	0.88049	0.0:0.0:1.0:0.0	.	476;476	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	C	476	ENSP00000368215:R476C;ENSP00000368212:R476C;ENSP00000288422:R476C;ENSP00000368214:R476C	ENSP00000288422:R476C	R	-	1	0	TAB3	30782277	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.147000	0.94646	2.173000	0.68751	0.523000	0.50628	CGC	TAB3	-	NULL		0.443	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30872356	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30872356	G	A	30872356	3	1	74	1	0	0	0	0	1	0	0	0	15527	1087	38	2	736	2	TAB3	23	30872356	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	4659707	30872356	124398204	1063	11758										
FAM47A	158724	genome.wustl.edu	37	chrX	34148613	34148613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atattgaagagagtcagaaaCgcactcttttgtgcttggtg	11	6	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:34148613C>T	ENST00000346193.3	-	1	1834	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	595										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCAGAAACGCACTCTTTT	0.453																																																	0													98	89	92					X																	34148613		2152	4259	6411	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1783G>A	X.37:g.34148613C>T	ENSP00000345029:p.Val595Ile		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.V595I	ENST00000346193.3	37	c.1783	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	4.145	0.025305	0.08054	.	.	ENSG00000185448	ENST00000346193	T	0.41758	0.99	1.23	0.13	0.14746	.	.	.	.	.	T	0.20251	0.0487	N	0.22421	0.69	0.09310	N	1	B	0.33494	0.414	B	0.23150	0.044	T	0.15407	-1.0438	9	0.18710	T	0.47	.	5.287	0.15706	0.0:0.4498:0.5502:0.0	.	595	Q5JRC9	FA47A_HUMAN	I	595	ENSP00000345029:V595I	ENSP00000345029:V595I	V	-	1	0	FAM47A	34058534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.985000	0.03751	-0.024000	0.13941	-0.449000	0.05564	GTT	FAM47A	-	NULL		0.453	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	C	NM_203408		34148613	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	missense	SNP	0.000	T	T	34148613	C	T	34148613	3	4	74	1	0	0	0	0	1	0	0	0	5587	536	19	2	596	2	FAM47A	23	34148613	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3276257	34148613	121121947	1064	11759										
BCOR	54880	genome.wustl.edu	37	chrX	39922921	39922921	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcttctgttgcctttggcctCtgcccttttcctgccaggtt	9	14	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:39922921C>A	ENST00000378444.4	-	8	4015	c.3787G>T	c.(3787-3789)Gag>Tag	p.E1263*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1211*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1229*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1229*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E106*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1263					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTTTGGCCTCTGCCCTTTTC	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													226	175	192					X																	39922921		2202	4300	6502	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3787G>T	X.37:g.39922921C>A	ENSP00000367705:p.Glu1263*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1263*	ENST00000378444.4	37	c.3787	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	44	11.269392	0.99539	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.2593	18.7977	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	133;106;1211;1229;1263;1229;1229	.	ENSP00000345923:E1229X	E	-	1	0	BCOR	39807865	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.670000	0.68088	2.385000	0.81259	0.529000	0.55759	GAG	BCOR	-	NULL		0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	C	NM_017745		39922921	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	39922921	C	A	39922921	4	1	74	1	0	0	0	0	0	1	0	0	1387	922	32	3	1512	3	BCOR	23	39922921	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	5774308	39922921	115347639	1065	11760										
USP9X	8239	genome.wustl.edu	37	chrX	40999952	40999952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caaatttggcactttaaatgGgttccagattttgcatgatc	8	7	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:40999952G>A	ENST00000324545.8	+	7	1331	c.698G>A	c.(697-699)gGg>gAg	p.G233E	USP9X_ENST00000378308.2_Missense_Mutation_p.G233E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	233					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTTAAATGGGTTCCAGATT	0.318																																					Ovarian(172;1807 2695 35459 49286)												0													111	99	103					X																	40999952		2202	4298	6500	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.698G>A	X.37:g.40999952G>A	ENSP00000316357:p.Gly233Glu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.G233E	ENST00000324545.8	37	c.698	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690451	0.88735	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.21361	2.01;2.01	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55173	-0.8182	10	0.87932	D	0	.	19.5004	0.95091	0.0:0.0:1.0:0.0	.	233;233	Q93008-1;Q93008	.;USP9X_HUMAN	E	233	ENSP00000367558:G233E;ENSP00000316357:G233E	ENSP00000316357:G233E	G	+	2	0	USP9X	40884896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.560000	0.86352	0.594000	0.82650	GGG	USP9X	-	NULL		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		40999952	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40999952	G	A	40999952	3	1	74	1	0	0	0	0	1	0	0	0	17121	1232	43	4	720	4	USP9X	23	40999952	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1077031	40999952	114270608	1066	11761										
USP9X	8239	genome.wustl.edu	37	chrX	41089034	41089035	+	Frame_Shift_Ins	INS	-	-	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gaactctgtccagaggaggtINSaaaaaaagccaccagtgtgc							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:41089034_41089035insA	ENST00000324545.8	+	43	8066_8067	c.7433_7434insA	c.(7432-7437)gtaaaafs	p.VK2478fs	USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2478					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAGAGGAGGTAAAAAAAGCCA	0.371														1	0.000264901	0	0.0014	3775	,	,		12931	0		0	False		,,,				2504	0				Ovarian(172;1807 2695 35459 49286)												2	Unknown(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7440dupA	X.37:g.41089041_41089041dupA	ENSP00000316357:p.Val2478fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.A2481fs	ENST00000324545.8	37	c.7433_7434	CCDS43930.1	X																																																																																			USP9X	-	NULL		0.371	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	NM_004652		41089035	1	no_errors	ENST00000324545	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	41089035	-	A	41089034	7	5	74	1	0	1	1	0	0	0	0	0	17121	1652	57	0	7599	0	USP9X	23	41089034	Frame_Shift_Ins	INS	-	TCGA-EA-A3HU-01A-11D-A20U-09	89082	41089034	114181526	1067	11762										
CASK	8573	genome.wustl.edu	37	chrX	41390272	41390272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggcattacctgaggctccacGtccagtattgcaatcagccc	9	14	1	1	rs375734729		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:41390272G>A	ENST00000378163.1	-	25	2982	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	CASK_ENST00000361962.4_Silent_p.D819D|CASK_ENST00000442742.2_Silent_p.D808D|CASK_ENST00000318588.9_Silent_p.D831D|CASK_ENST00000378166.4_Silent_p.D831D|CASK_ENST00000378158.1_Silent_p.D819D|CASK_ENST00000421587.2_Silent_p.D807D			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	836	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GAGGCTCCACGTCCAGTATTG	0.517																																					NSCLC(42;104 1086 3090 27189 35040)												0								G	,,	0,3835		0,0,1632,571	176	114	135		2424,2421,2493	-4.4	0.8	X		135	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	CASK	NM_001126054.2,NM_001126055.2,NM_003688.3	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	808/899,807/898,831/922	41390272	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2508C>T	X.37:g.41390272G>A			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.D836	ENST00000378163.1	37	c.2508		X																																																																																			CASK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.517	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	G	NM_003688		41390272	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	silent	SNP	0.545	A	A	41390272	G	A	41390272	2	1	74	1	0	0	0	0	0	0	0	1	2670	1136	40	2		2	CASK	23	41390272	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	301238	41390272	113880288	1068	11763										
KDM6A	7403	genome.wustl.edu	37	chrX	44922854	44922854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcctttggccaatggaccctTttctgcaggccatgttccct	9	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:44922854T>G	ENST00000377967.4	+	16	1756	c.1715T>G	c.(1714-1716)tTt>tGt	p.F572C	KDM6A_ENST00000382899.4_Missense_Mutation_p.F579C|KDM6A_ENST00000543216.1_Missense_Mutation_p.F493C|KDM6A_ENST00000536777.1_Missense_Mutation_p.F527C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	572	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATGGACCCTTTTCTGCAGGC	0.527			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)											102	67	79					X																	44922854		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1715T>G	X.37:g.44922854T>G	ENSP00000367203:p.Phe572Cys		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F579C	ENST00000377967.4	37	c.1736	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.71|13.71	2.319244|2.319244	0.41096|0.41096	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000451692	T;T;T;T|T	0.18960|0.36878	2.18;2.18;2.19;2.24|1.23	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.293564|0.293564	0.38897|0.38897	N|N	0.001532|0.001532	T|T	0.47078|0.47078	0.1426|0.1426	L|L	0.51422|0.51422	1.61|1.61	0.42354|0.42354	D|D	0.992384|0.992384	B;D;B;B;B;B|.	0.76494|.	0.001;0.999;0.007;0.002;0.001;0.004|.	B;D;B;B;B;B|.	0.80764|.	0.001;0.994;0.007;0.008;0.001;0.008|.	T|T	0.47071|0.47071	-0.9145|-0.9145	10|8	0.72032|0.56958	D|D	0.01|0.05	-13.1718|-13.1718	14.2789|14.2789	0.66199|0.66199	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	211;579;527;624;538;572|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	C|V	269;572;527;579;493;165|202	ENSP00000367203:F572C;ENSP00000437405:F527C;ENSP00000372355:F579C;ENSP00000443078:F493C|ENSP00000399980:F202V	ENSP00000334340:F269C|ENSP00000399980:F202V	F|F	+|+	2|1	0|0	KDM6A|KDM6A	44807798|44807798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.736000|4.736000	0.62059|0.62059	1.819000|1.819000	0.53055|0.53055	0.417000|0.417000	0.27973|0.27973	TTT|TTT	KDM6A	-	NULL		0.527	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	T	NM_021140		44922854	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44922854	T	G	44922854	3	3	74	1	0	0	0	0	1	0	0	0	8157	1841	64	5	1777	5	KDM6A	23	44922854	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3532582	44922854	110347706	1069	11764										
SLC9A7	84679	genome.wustl.edu	37	chrX	46513050	46513050	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tagaaaaaacctacctgtaaAtccgcaggcttctgccaaga	7	11	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:46513050A>C	ENST00000328306.4	-	8	1163	c.1138T>G	c.(1138-1140)Ttt>Gtt	p.F380V		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	380					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTACCTGTAAATCCGCAGGCT	0.512																																					Pancreas(118;454 1696 1930 13865 39976)												0													79	64	69					X																	46513050		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1138T>G	X.37:g.46513050A>C	ENSP00000330320:p.Phe380Val		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F380V	ENST00000328306.4	37	c.1138	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179414	0.78564	.	.	ENSG00000065923	ENST00000328306	T	0.11495	2.77	5.54	5.54	0.83059	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.50333	1.59	0.80722	D	1	P	0.47910	0.902	P	0.47251	0.542	T	0.00444	-1.1735	10	0.87932	D	0	.	14.6776	0.68993	1.0:0.0:0.0:0.0	.	380	Q96T83	SL9A7_HUMAN	V	380	ENSP00000330320:F380V	ENSP00000330320:F380V	F	-	1	0	SLC9A7	46397994	1.000000	0.71417	0.994000	0.49952	0.727000	0.41649	8.812000	0.91959	1.847000	0.53656	0.486000	0.48141	TTT	SLC9A7	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.512	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	A	NM_032591		46513050	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46513050	A	C	46513050	3	2	74	1	0	0	0	0	1	0	0	0	14749	101	4	5	1079	5	SLC9A7	23	46513050	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	1590196	46513050	108757510	1070	11765										
RBM10	8241	genome.wustl.edu	37	chrX	47041150	47041150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtctggccccatgaccagtcGtataccatcatgtcacccgc	8	16	3	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47041150G>A	ENST00000377604.3	+	15	2320	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	RBM10_ENST00000329236.7_Silent_p.S448S|RBM10_ENST00000345781.6_Silent_p.S449S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	526					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATGACCAGTCGTATACCATCA	0.617																																					Melanoma(171;120 2705 19495 39241)												0													46	40	42					X																	47041150		2203	4300	6503	SO:0001819	synonymous_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1578G>A	X.37:g.47041150G>A			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S526	ENST00000377604.3	37	c.1578	CCDS14274.1	X																																																																																			RBM10	-	NULL		0.617	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47041150	1	no_errors	ENST00000377604	ensembl	human	known	70_37	silent	SNP	0.999	A	A	47041150	G	A	47041150	2	1	74	1	0	0	0	0	0	0	0	1	13141	1132	40	2		2	RBM10	23	47041150	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	528100	47041150	108229410	1071	11766										
ZNF157	7712	genome.wustl.edu	37	chrX	47272495	47272495	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtgggaaattcttccgaatGaagatgactctcaataatca	8	7	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47272495G>T	ENST00000377073.3	+	4	1109	c.1023G>T	c.(1021-1023)atG>atT	p.M341I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	341					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTTCCGAATGAAGATGACTC	0.413																																																	0													41	38	39					X																	47272495		2203	4299	6502	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1023G>T	X.37:g.47272495G>T	ENSP00000366273:p.Met341Ile		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M341I	ENST00000377073.3	37	c.1023	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	5.607	0.296755	0.10622	.	.	ENSG00000147117	ENST00000377073	T	0.06933	3.24	3.26	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42396	-0.9454	9	0.34782	T	0.22	.	4.174	0.10343	0.1436:0.3444:0.512:0.0	.	341	P51786	ZN157_HUMAN	I	341	ENSP00000366273:M341I	ENSP00000366273:M341I	M	+	3	0	ZNF157	47157439	0.000000	0.05858	0.006000	0.13384	0.998000	0.95712	-0.680000	0.05197	0.607000	0.29982	0.600000	0.82982	ATG	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272495	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.003	T	T	47272495	G	T	47272495	3	4	74	1	0	0	0	0	1	0	0	0	17767	1290	45	3	1037	3	ZNF157	23	47272495	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	231345	47272495	107998065	1072	11767										
UXT	8409	genome.wustl.edu	37	chrX	47511528	47511528	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atattcatggagtccttggtGaggctgttgctgagcctaga	13	7	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47511528G>A	ENST00000333119.3	-	6	427	c.372C>T	c.(370-372)ctC>ctT	p.L124L	ELK1_ENST00000376983.3_5'Flank|UXT_ENST00000335890.2_Silent_p.L136L|ELK1_ENST00000343894.4_5'Flank|ELK1_ENST00000468956.1_5'Flank|UXT_ENST00000460840.1_5'UTR|ELK1_ENST00000592066.1_5'Flank|ELK1_ENST00000247161.3_5'Flank	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	124					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGTCCTTGGTGAGGCTGTTGC	0.463																																																	0													107	89	95					X																	47511528		2203	4300	6503	SO:0001819	synonymous_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.372C>T	X.37:g.47511528G>A			B2R561|Q5JZG3|Q9Y6E5	Silent	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.L136	ENST00000333119.3	37	c.408	CCDS14285.1	X																																																																																			UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin		0.463	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	G	NM_153477		47511528	-1	no_errors	ENST00000335890	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47511528	G	A	47511528	2	1	74	1	0	0	0	0	0	0	0	1	17141	1277	45	1		1	UXT	23	47511528	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	239033	47511528	107759032	1073	11768										
HDAC6	10013	genome.wustl.edu	37	chrX	48663867	48663867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcccggaaggccctgagcggCtccatgccatcaaggagcaa	12	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48663867C>A	ENST00000334136.5	+	5	512	c.334C>A	c.(334-336)Ctc>Atc	p.L112I	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.L112I|HDAC6_ENST00000413163.2_Missense_Mutation_p.L57I|HDAC6_ENST00000444343.2_Missense_Mutation_p.L126I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	112	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCTGAGCGGCTCCATGCCAT	0.592																																					Pancreas(112;205 1675 2305 8976 15959)												0													57	45	49					X																	48663867		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.334C>A	X.37:g.48663867C>A	ENSP00000334061:p.Leu112Ile		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.L126I	ENST00000334136.5	37	c.376	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432167	0.25813	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.16	3.28	0.37604	Histone deacetylase domain (2);	0.423027	0.20167	N	0.097836	T	0.53706	0.1813	L	0.38953	1.18	0.27156	N	0.961292	B;B;B;P	0.39759	0.004;0.02;0.004;0.687	B;B;B;B	0.39503	0.024;0.042;0.024;0.301	T	0.41698	-0.9494	10	0.22109	T	0.4	-17.9456	3.7772	0.08665	0.2451:0.626:0.0:0.1289	.	102;57;112;112	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	I	112;112;126;112;112;112;112;57;112;112;112;112	ENSP00000365831:L112I;ENSP00000398566:L126I;ENSP00000365795:L112I;ENSP00000334061:L112I;ENSP00000365804:L112I;ENSP00000398801:L57I;ENSP00000393916:L112I;ENSP00000402189:L112I;ENSP00000402751:L112I;ENSP00000394377:L112I	ENSP00000334061:L112I	L	+	1	0	HDAC6	48548811	1.000000	0.71417	0.997000	0.53966	0.694000	0.40290	0.923000	0.28757	2.023000	0.59567	0.292000	0.19580	CTC	HDAC6	-	pfam_His_deacetylse_dom		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48663867	1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48663867	C	A	48663867	3	1	74	1	0	0	0	0	1	0	0	0	7031	797	28	4	348	4	HDAC6	23	48663867	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1152339	48663867	106606693	1074	11769										
SLC35A2	7355	genome.wustl.edu	37	chrX	48760736	48760736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taggaacccttcaccttggtGagcaacctgtggtgggaatg	13	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48760736G>A	ENST00000247138.5	-	5	1173	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	SLC35A2_ENST00000376529.3_Missense_Mutation_p.H194Y	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	390					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TCACCTTGGTGAGCAACCTGT	0.582																																																	0													101	70	81					X																	48760736		2203	4300	6503	SO:0001819	synonymous_variant	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1170C>T	X.37:g.48760736G>A			A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt	p.H194Y	ENST00000247138.5	37	c.580	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	G	10.27	1.305017	0.23736	.	.	ENSG00000102100	ENST00000376529	.	.	.	5.55	4.65	0.58169	.	.	.	.	.	T	0.70850	0.3271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73338	-0.4014	5	0.59425	D	0.04	.	11.9208	0.52791	0.0:0.19:0.81:0.0	.	.	.	.	Y	194	.	ENSP00000365712:H194Y	H	-	1	0	SLC35A2	48645680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.761000	0.47589	2.311000	0.77944	0.600000	0.82982	CAC	SLC35A2	-	NULL		0.582	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	G	NM_005660		48760736	-1	no_errors	ENST00000376529	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48760736	G	A	48760736	2	1	74	1	0	0	0	0	0	0	0	1	14601	1277	45	1		1	SLC35A2	23	48760736	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	96869	48760736	106509824	1075	11770										
OTUD5	55593	genome.wustl.edu	37	chrX	48792055	48792055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cctgcatctcaatgtggttgCcatggcaattgtttttccgc	9	11	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48792055C>T	ENST00000156084.4	-	4	899	c.839G>A	c.(838-840)gGc>gAc	p.G280D	OTUD5_ENST00000428668.2_Missense_Mutation_p.G63D|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Missense_Mutation_p.G280D|OTUD5_ENST00000396743.3_Missense_Mutation_p.G280D	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	280	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AATGTGGTTGCCATGGCAATT	0.478																																																	0													230	179	196					X																	48792055		2203	4300	6503	SO:0001583	missense	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.839G>A	X.37:g.48792055C>T	ENSP00000156084:p.Gly280Asp		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.G280D	ENST00000156084.4	37	c.839	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630407	0.87660	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.52	5.52	0.82312	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.98;0.998;0.987	D	0.85613	0.1259	10	0.87932	D	0	-13.049	17.3667	0.87366	0.0:1.0:0.0:0.0	.	63;280;280	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	D	280;256;153;280;280;63	ENSP00000379969:G280D;ENSP00000390767:G153D;ENSP00000156084:G280D;ENSP00000365671:G280D;ENSP00000401629:G63D	ENSP00000156084:G280D	G	-	2	0	OTUD5	48676999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.799000	0.75160	2.456000	0.83038	0.529000	0.55759	GGC	OTUD5	-	pfam_OTU,pfscan_OTU		0.478	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	C	NM_017602		48792055	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48792055	C	T	48792055	3	4	74	1	0	0	0	0	1	0	0	0	11339	739	26	4	900	4	OTUD5	23	48792055	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	31319	48792055	106478505	1076	11771										
TFE3	7030	genome.wustl.edu	37	chrX	48895555	48895555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgtgctggggagctgcagtcCtgtggtgcctccgggcagat	17	11	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48895555C>T	ENST00000315869.7	-	5	1124	c.865G>A	c.(865-867)Gga>Aga	p.G289R	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	289					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCTGCAGTCCTGTGGTGCCT	0.502			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													66	43	50					X																	48895555		2202	4299	6501	SO:0001583	missense	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.865G>A	X.37:g.48895555C>T	ENSP00000314129:p.Gly289Arg		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G289R	ENST00000315869.7	37	c.865	CCDS14315.3	X	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209766	0.79240	.	.	ENSG00000068323	ENST00000315869	T	0.14640	2.49	5.89	5.89	0.94794	.	0.050565	0.85682	D	0.000000	T	0.15478	0.0373	L	0.35341	1.055	0.58432	D	0.999995	P	0.50943	0.94	P	0.47134	0.539	T	0.01468	-1.1347	10	0.36615	T	0.2	-18.792	13.5319	0.61627	0.0:0.8477:0.1523:0.0	.	289	P19532	TFE3_HUMAN	R	289	ENSP00000314129:G289R	ENSP00000314129:G289R	G	-	1	0	TFE3	48782499	0.109000	0.22037	0.521000	0.27850	0.931000	0.56810	3.973000	0.56845	2.488000	0.83962	0.509000	0.49947	GGA	TFE3	-	NULL		0.502	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	C	NM_006521		48895555	-1	no_errors	ENST00000315869	ensembl	human	known	70_37	missense	SNP	0.991	T	T	48895555	C	T	48895555	3	4	74	1	0	0	0	0	1	0	0	0	15830	690	24	4	886	4	TFE3	23	48895555	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	103500	48895555	106375005	1077	11772										
DGKK	139189	genome.wustl.edu	37	chrX	50131536	50131536	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagactgacctggttgcgatGatcatctctgtggggtactt	12	8	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:50131536G>A	ENST00000376025.2	-	0	2066							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGTTGCGATGATCATCTCTG	0.522																																																	0													202	179	186					X																	50131536		1983	4139	6122			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50131536G>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.522	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50131536	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.213	A	A	50131536	G	A	50131536	1	1	74	0	1	0	0	0	0	0	0	0	4482	1280	45	1		1	DGKK	23	50131536	RNA	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1235981	50131536	105139024	1078	11773										
DGKK	139189	genome.wustl.edu	37	chrX	50167247	50167247	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acaatatgctatacattaccGcgggatggtgtgcaaagtag	11	7	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:50167247G>A	ENST00000376025.2	-	0	814							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATACATTACCGCGGGATGGTG	0.413																																																	0													124	109	113					X																	50167247		1876	4098	5974			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167247G>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.413	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50167247	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.869	A	A	50167247	G	A	50167247	1	1	74	0	1	0	0	0	0	0	0	0	4482	1101	38	2		2	DGKK	23	50167247	RNA	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	35711	50167247	105103313	1079	11774										
GSPT2	23708	genome.wustl.edu	37	chrX	51487545	51487545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtcgaagtgggtcgtgccTattttgaaacagaaaggaaa	12	6	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:51487545T>C	ENST00000340438.4	+	1	1065	c.823T>C	c.(823-825)Tat>Cat	p.Y275H		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	275	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGGTCGTGCCTATTTTGAAAC	0.428																																																	0													139	131	134					X																	51487545		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.823T>C	X.37:g.51487545T>C	ENSP00000341247:p.Tyr275His		Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.Y275H	ENST00000340438.4	37	c.823	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294627	0.23564	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.70631	-0.5	4.54	4.54	0.55810	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.42529	1.33	0.80722	D	1	B	0.32324	0.364	B	0.33690	0.168	T	0.63883	-0.6536	10	0.45353	T	0.12	-12.7952	11.2146	0.48819	0.0:0.0:0.0:1.0	.	275	Q8IYD1	ERF3B_HUMAN	H	275;192	ENSP00000341247:Y275H	ENSP00000341247:Y275H	Y	+	1	0	GSPT2	51504285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.013000	0.59113	0.480000	0.44947	TAT	GSPT2	-	pfam_EF_GTP-bd_dom		0.428	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	T			51487545	1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51487545	T	C	51487545	3	2	74	1	0	0	0	0	1	0	0	0	6847	1522	53	5	825	5	GSPT2	23	51487545	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1320298	51487545	103783015	1080	11775										
SSX7	280658	genome.wustl.edu	37	chrX	52681983	52681983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gctgattttctccaaggattTcatcttttcccactctttct	4	12	5	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:52681983T>G	ENST00000298181.5	-	3	279	c.121A>C	c.(121-123)Aaa>Caa	p.K41Q		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	41	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TCCAAGGATTTCATCTTTTCC	0.378																																																	0													171	136	148					X																	52681983		2203	4299	6502	SO:0001583	missense	280658			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.121A>C	X.37:g.52681983T>G	ENSP00000298181:p.Lys41Gln			Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K41Q	ENST00000298181.5	37	c.121	CCDS14343.1	X	.	.	.	.	.	.	.	.	.	.	N	8.524	0.869354	0.17322	.	.	ENSG00000187754	ENST00000298181	T	0.00816	5.66	0.56	0.56	0.17279	Krueppel-associated box (2);Krueppel-associated box-related (1);	3.155740	0.00837	N	0.001704	T	0.04003	0.0112	L	0.58925	1.835	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41627	-0.9498	9	0.28530	T	0.3	.	.	.	.	.	41	Q7RTT5	SSX7_HUMAN	Q	41	ENSP00000298181:K41Q	ENSP00000298181:K41Q	K	-	1	0	SSX7	52698708	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.674000	0.05233	0.429000	0.26202	0.146000	0.16034	AAA	SSX7	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.378	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	HGNC	protein_coding	OTTHUMT00000056671.1	T	NM_173358		52681983	-1	no_errors	ENST00000298181	ensembl	human	known	70_37	missense	SNP	0.003	G	G	52681983	T	G	52681983	3	3	74	1	0	0	0	0	1	0	0	0	15239	1792	62	5	465	5	SSX7	23	52681983	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	1194438	52681983	102588577	1081	11776										
XAGE3	170626	genome.wustl.edu	37	chrX	52893804	52893804	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cataataatggatagcatacCtccttctggcattttaaatt	5	8	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:52893804C>A	ENST00000346279.3	-	4	383	c.313G>T	c.(313-315)Ggt>Tgt	p.G105C	XAGE3_ENST00000375491.3_Splice_Site_p.G105C	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	105										kidney(1)|large_intestine(1)|lung(2)	4						GATAGCATACCTCCTTCTGGC	0.373																																																	0													93	83	87					X																	52893804		2203	4300	6503	SO:0001630	splice_region_variant	170626			BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"cancer/testis antigen family 12, member 3a", "cancer/testis antigen family 12, member 3b"	300740	"placenta-specific 6; G antigen, family D, 4"	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.313+1G>T	X.37:g.52893804C>A			Q5JS82|Q8WYS9	Missense_Mutation	SNP	pfam_GAGE	p.G105C	ENST00000346279.3	37	c.313	CCDS14347.1	X	.	.	.	.	.	.	.	.	.	.	c	8.562	0.878074	0.17395	.	.	ENSG00000171402	ENST00000375491;ENST00000346279	T;T	0.16743	2.32;2.32	1.09	0.188	0.15114	.	.	.	.	.	T	0.36690	0.0976	M	0.86097	2.795	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.15435	-1.0437	8	.	.	.	.	3.3167	0.07035	0.0:0.6927:0.0:0.3073	.	105	Q8WTP9	GAGD4_HUMAN	C	105	ENSP00000364640:G105C;ENSP00000303061:G105C	.	G	-	1	0	XAGE3	52910529	0.910000	0.30920	0.006000	0.13384	0.027000	0.11550	1.222000	0.32515	-0.010000	0.14271	-0.444000	0.05651	GGT	XAGE3	-	pfam_GAGE		0.373	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XAGE3	HGNC	protein_coding	OTTHUMT00000056686.1	C	NM_133179	Missense_Mutation	52893804	-1	no_errors	ENST00000346279	ensembl	human	known	70_37	missense	SNP	0.006	A	A	52893804	C	A	52893804	5	1	74	1	0	0	0	0	0	0	1	0	17451	695	24	4	30	4	XAGE3	23	52893804	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	211821	52893804	102376756	1082	11777										
KDM5C	8242	genome.wustl.edu	37	chrX	53222364	53222364	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcctcctcctggacctcctCagcctctggccctgagctcc	7	20	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:53222364C>T	ENST00000375401.3	-	26	5000	c.4468G>A	c.(4468-4470)Gag>Aag	p.E1490K	KDM5C_ENST00000404049.3_Missense_Mutation_p.E1489K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E1446K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1487K|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1490					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E1490*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGACCTCCTCAGCCTCTGGC	0.692			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Nonsense(1)	skin(1)											65	40	48					X																	53222364		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4468G>A	X.37:g.53222364C>T	ENSP00000364550:p.Glu1490Lys		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1490K	ENST00000375401.3	37	c.4468	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	9.302	1.053388	0.19907	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.84370	-1.7;-1.7;-1.7;-1.84	3.88	3.01	0.34805	.	0.303410	0.21015	N	0.081609	T	0.70150	0.3191	N	0.25647	0.755	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58329	-0.7655	10	0.02654	T	1	-9.0794	8.4432	0.32826	0.0:0.8792:0.0:0.1208	.	1489;1490	B0QZ44;P41229	.;KDM5C_HUMAN	K	1490;1489;1487;1446	ENSP00000364550:E1490K;ENSP00000385394:E1489K;ENSP00000364528:E1487K;ENSP00000364532:E1446K	ENSP00000364528:E1487K	E	-	1	0	KDM5C	53239089	0.994000	0.37717	0.986000	0.45419	0.953000	0.61014	1.677000	0.37576	0.692000	0.31613	0.407000	0.27541	GAG	KDM5C	-	NULL		0.692	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	C	NM_004187		53222364	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	missense	SNP	0.990	T	T	53222364	C	T	53222364	3	4	74	1	0	0	0	0	1	0	0	0	8155	835	29	1	316	1	KDM5C	23	53222364	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	328560	53222364	102048196	1083	11778										
HUWE1	10075	genome.wustl.edu	37	chrX	53672359	53672359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttgctaaatacatataggagAttgaggactgccagcaccac	9	9	0	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:53672359A>C	ENST00000342160.3	-	6	865	c.408T>G	c.(406-408)aaT>aaG	p.N136K	HUWE1_ENST00000218328.8_Missense_Mutation_p.N136K|HUWE1_ENST00000262854.6_Missense_Mutation_p.N136K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	136					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATATAGGAGATTGAGGACTG	0.453																																																	0													92	73	79					X																	53672359		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.408T>G	X.37:g.53672359A>C	ENSP00000340648:p.Asn136Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.N136K	ENST00000342160.3	37	c.408	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796394	0.70567	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.64991	-0.04;-0.04;-0.13	5.23	-2.86	0.05717	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	.	.	.	.	T	0.74168	0.3681	M	0.72894	2.215	0.45118	D	0.998133	D	0.89917	1.0	D	0.87578	0.998	T	0.74917	-0.3501	9	0.87932	D	0	.	12.9796	0.58555	0.6619:0.0:0.3381:0.0	.	136	Q7Z6Z7	HUWE1_HUMAN	K	136	ENSP00000340648:N136K;ENSP00000262854:N136K;ENSP00000218328:N136K	ENSP00000218328:N136K	N	-	3	2	HUWE1	53689084	1.000000	0.71417	0.980000	0.43619	0.921000	0.55340	0.735000	0.26115	-0.702000	0.05056	-1.026000	0.02426	AAT	HUWE1	-	pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	A	XM_497119		53672359	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	0.938	C	C	53672359	A	C	53672359	3	2	74	1	0	0	0	0	1	0	0	0	7481	330	12	5	13028	5	HUWE1	23	53672359	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	449995	53672359	101598201	1084	11779										
ALAS2	212	genome.wustl.edu	37	chrX	55043940	55043940	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atccatggagtggacagtctCaaaggccacaattttgggta	11	8	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:55043940C>G	ENST00000330807.5	-	7	1119	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	ALAS2_ENST00000335854.4_Missense_Mutation_p.E291Q|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.E315Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	328					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGGACAGTCTCAAAGGCCACA	0.423																																																	0													243	194	211					X																	55043940		2203	4300	6503	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.982G>C	X.37:g.55043940C>G	ENSP00000332369:p.Glu328Gln		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.E328Q	ENST00000330807.5	37	c.982	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812417	0.90707	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96522	-4.04;-4.04;-4.04	5.24	5.24	0.73138	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98755	1.0722	10	0.87932	D	0	-29.2274	16.8746	0.86048	0.0:1.0:0.0:0.0	.	291;315;328	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	328;315;291	ENSP00000332369:E328Q;ENSP00000379501:E315Q;ENSP00000337131:E291Q	ENSP00000332369:E328Q	E	-	1	0	ALAS2	55060665	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.333000	0.79357	0.513000	0.50165	GAG	ALAS2	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth		0.423	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	C	NM_000032		55043940	-1	no_errors	ENST00000330807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55043940	C	G	55043940	3	3	74	1	0	0	0	0	1	0	0	0	485	835	29	1	801	1	ALAS2	23	55043940	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1371581	55043940	100226620	1085	11780										
ARHGEF9	23229	genome.wustl.edu	37	chrX	62917102	62917102	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agcccatctgaaatctgtagAtatcttcaatgttcccaaag	6	10	4	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:62917102A>C	ENST00000253401.6	-	4	1264	c.464T>G	c.(463-465)aTc>aGc	p.I155S	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.I102S|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.I53S|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.I134S|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.I153S|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	155	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AAATCTGTAGATATCTTCAAT	0.463																																																	0													123	95	105					X																	62917102		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.464T>G	X.37:g.62917102A>C	ENSP00000253401:p.Ile155Ser		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.I155S	ENST00000253401.6	37	c.464	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947767	0.73787	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.59	4.42	0.53409	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	9.4941	0.38978	0.9149:0.0:0.0851:0.0	.	102;153;155;155	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	S	155;153;102;53;134	ENSP00000253401:I155S;ENSP00000364012:I153S;ENSP00000399994:I102S;ENSP00000364004:I53S;ENSP00000364006:I134S	ENSP00000253401:I155S	I	-	2	0	ARHGEF9	62833827	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.729000	0.91490	0.745000	0.32763	0.417000	0.27973	ATC	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.463	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	A			62917102	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62917102	A	C	62917102	3	2	74	1	0	0	0	0	1	0	0	0	912	333	12	5	1114	5	ARHGEF9	23	62917102	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	7873162	62917102	92353458	1086	11781										
ZC4H2	55906	genome.wustl.edu	37	chrX	64141715	64141715	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	accacattgatgtcagcgtgGatcagtcggagttcctccac	10	12	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:64141715G>A	ENST00000374839.3	-	2	313	c.207C>T	c.(205-207)atC>atT	p.I69I	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.I46I|ZC4H2_ENST00000545618.1_Silent_p.I64I|ZC4H2_ENST00000447788.2_Silent_p.I69I	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	69					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGTCAGCGTGGATCAGTCGGA	0.512																																																	0													172	102	125					X																	64141715		2203	4300	6503	SO:0001819	synonymous_variant	55906			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.207C>T	X.37:g.64141715G>A			B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	pfam_Znf-C4H2	p.I69	ENST00000374839.3	37	c.207	CCDS14380.1	X																																																																																			ZC4H2	-	pfam_Znf-C4H2		0.512	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC4H2	HGNC	protein_coding	OTTHUMT00000056958.1	G	NM_018684		64141715	-1	no_errors	ENST00000374839	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64141715	G	A	64141715	2	1	74	1	0	0	0	0	0	0	0	1	17608	1164	41	1		1	ZC4H2	23	64141715	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1224613	64141715	91128845	1087	11782										
EFNB1	1947	genome.wustl.edu	37	chrX	68058517	68058517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	attggagacaagctggacatCatctgcccccgagcagaagc	11	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:68058517C>T	ENST00000204961.4	+	2	966	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	62	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.		I -> T (in CFNS). {ECO:0000269|PubMed:15166289}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCTGGACATCATCTGCCCCC	0.582																																																	0													52	44	47					X																	68058517		2203	4300	6503	SO:0001819	synonymous_variant	1947			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.186C>T	X.37:g.68058517C>T			D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.I62	ENST00000204961.4	37	c.186	CCDS14391.1	X																																																																																			EFNB1	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin		0.582	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1	C	NM_004429		68058517	1	no_errors	ENST00000204961	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68058517	C	T	68058517	2	4	74	1	0	0	0	0	0	0	0	1	4965	816	29	1		1	EFNB1	23	68058517	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3916802	68058517	87212043	1088	11783										
AWAT1	158833	genome.wustl.edu	37	chrX	69456971	69456971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	catggcctcctgacctttggCgccttctgcaacttctgcac	8	16	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:69456971C>T	ENST00000374521.3	+	4	374	c.333C>T	c.(331-333)ggC>ggT	p.G111G	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	111					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGACCTTTGGCGCCTTCTGCA	0.562																																																	0													78	50	60					X																	69456971		2203	4300	6503	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.333C>T	X.37:g.69456971C>T			Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.G111	ENST00000374521.3	37	c.333	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT		0.562	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69456971	1	no_errors	ENST00000374521	ensembl	human	known	70_37	silent	SNP	0.298	T	T	69456971	C	T	69456971	2	4	74	1	0	0	0	0	0	0	0	1	1235	755	27	2		2	AWAT1	23	69456971	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1398454	69456971	85813589	1089	11784										
KIF4A	24137	genome.wustl.edu	37	chrX	69516913	69516913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aaacctattcaatgggaggtGcatatactgcagagcaagag	11	7	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:69516913G>A	ENST00000374403.3	+	4	383	c.301G>A	c.(301-303)Gca>Aca	p.A101T	KIF4A_ENST00000374388.3_Missense_Mutation_p.A101T|KIF4A_ENST00000485406.1_3'UTR	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	101	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGGGAGGTGCATATACTGC	0.413																																																	0													95	87	90					X																	69516913		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.301G>A	X.37:g.69516913G>A	ENSP00000363524:p.Ala101Thr		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A101T	ENST00000374403.3	37	c.301	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	5.006	0.186884	0.09547	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74315	-0.83;-0.83	5.45	3.69	0.42338	Kinesin, motor domain (4);	0.332965	0.25932	N	0.027376	T	0.52964	0.1767	N	0.12182	0.205	0.43355	D	0.995427	B;B	0.09022	0.001;0.002	B;B	0.13407	0.009;0.005	T	0.36768	-0.9734	10	0.26408	T	0.33	.	7.9423	0.29965	0.2813:0.0:0.7187:0.0	.	101;101	O95239;O95239-2	KIF4A_HUMAN;.	T	101	ENSP00000363509:A101T;ENSP00000363524:A101T	ENSP00000363509:A101T	A	+	1	0	KIF4A	69433638	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.847000	0.27696	0.656000	0.30886	0.538000	0.68166	GCA	KIF4A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69516913	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69516913	G	A	69516913	3	1	74	1	0	0	0	0	1	0	0	0	8323	1319	46	4	311	4	KIF4A	23	69516913	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	59942	69516913	85753647	1090	11785										
NLGN3	54413	genome.wustl.edu	37	chrX	70387591	70387591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ttcccctgcaacttctccaaGaatgatgttatgctcagtgc	7	12	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70387591G>A	ENST00000358741.3	+	7	1947	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	NLGN3_ENST00000536169.1_Silent_p.K508K|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.K528K	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	548					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACTTCTCCAAGAATGATGTTA	0.483																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													146	124	132					X																	70387591		2203	4300	6503	SO:0001819	synonymous_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1644G>A	X.37:g.70387591G>A			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.K548	ENST00000358741.3	37	c.1644	CCDS55441.1	X																																																																																			NLGN3	-	pfam_CarbesteraseB		0.483	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	G	NM_018977		70387591	1	no_errors	ENST00000358741	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70387591	G	A	70387591	2	1	74	1	0	0	0	0	0	0	0	1	10487	933	33	1		1	NLGN3	23	70387591	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	870678	70387591	84882969	1091	11786										
TAF1	6872	genome.wustl.edu	37	chrX	70601676	70601676	+	Missense_Mutation	SNP	G	G	C													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctggtatatggacgctggGaggacaatatcatttgggat							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70601676G>C	ENST00000373790.4	+	9	1492	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	TAF1_ENST00000423759.1_Missense_Mutation_p.E502Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E502Q|TAF1_ENST00000449580.1_Missense_Mutation_p.E481Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	481					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGACGCTGGGAGGACAATAT	0.458																																																	0													148	118	128					X																	70601676		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1441G>C	X.37:g.70601676G>C	ENSP00000362895:p.Glu481Gln		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E481Q	ENST00000373790.4	37	c.1441	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	28.2	4.899865	0.91962	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.12147	2.72;2.8;2.77;2.71	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.36915	-0.9728	10	0.72032	D	0.01	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	481;502	P21675;P21675-2	TAF1_HUMAN;.	Q	481;481;502;502	ENSP00000362895:E481Q;ENSP00000389000:E481Q;ENSP00000406549:E502Q;ENSP00000276072:E502Q	ENSP00000276072:E502Q	E	+	1	0	TAF1	70518401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.275000	0.75901	0.594000	0.82650	GAG	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70601676	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70601676	G	C	70601676	3	2	74	1	0	0	0	0	1	0	0	0	15543	1175	41	1	1538	1	TAF1	23	70601676	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	214085	70601676	84668884	1092	11787	63	2								
TAF1	6872	genome.wustl.edu	37	chrX	70601684	70601684	+	Missense_Mutation	SNP	T	T	A													0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatggacgctgggaggacaaTatcatttgggatgctcaggc							TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70601684T>A	ENST00000373790.4	+	9	1500	c.1449T>A	c.(1447-1449)aaT>aaA	p.N483K	TAF1_ENST00000423759.1_Missense_Mutation_p.N504K|TAF1_ENST00000276072.3_Missense_Mutation_p.N504K|TAF1_ENST00000449580.1_Missense_Mutation_p.N483K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	483					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGAGGACAATATCATTTGGG	0.458																																																	0													144	115	125					X																	70601684		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1449T>A	X.37:g.70601684T>A	ENSP00000362895:p.Asn483Lys		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.N483K	ENST00000373790.4	37	c.1449	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	15.44	2.834767	0.50951	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10860	2.83;2.91;2.89;2.83	5.51	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	L	0.54323	1.7	0.53688	D	0.999977	B;B	0.28584	0.138;0.216	B;B	0.33846	0.119;0.171	T	0.07404	-1.0774	10	0.45353	T	0.12	.	8.5675	0.33550	0.0:0.4374:0.0:0.5626	.	483;504	P21675;P21675-2	TAF1_HUMAN;.	K	483;483;504;504	ENSP00000362895:N483K;ENSP00000389000:N483K;ENSP00000406549:N504K;ENSP00000276072:N504K	ENSP00000276072:N504K	N	+	3	2	TAF1	70518409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.779000	0.26746	0.198000	0.20407	0.481000	0.45027	AAT	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	T	NM_004606		70601684	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70601684	T	A	70601684	3	1	74	1	0	0	0	0	1	0	0	0	15543	1403	49	5	1546	5	TAF1	23	70601684	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	8	70601684	84668876	1093	11788	63	2								
TAF1	6872	genome.wustl.edu	37	chrX	70621404	70621404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtggggcatgtggtgccatTggacacatgaggactaacaa	14	7	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70621404T>G	ENST00000373790.4	+	25	3861	c.3810T>G	c.(3808-3810)atT>atG	p.I1270M	TAF1_ENST00000423759.1_Missense_Mutation_p.I1291M|TAF1_ENST00000276072.3_Missense_Mutation_p.I1291M|TAF1_ENST00000449580.1_Missense_Mutation_p.I1270M	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1270					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTGGTGCCATTGGACACATGA	0.458																																																	0													87	73	78					X																	70621404		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3810T>G	X.37:g.70621404T>G	ENSP00000362895:p.Ile1270Met		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.I1270M	ENST00000373790.4	37	c.3810	CCDS35325.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.14|17.14	3.314006|3.314006	0.60414|0.60414	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072|ENST00000483985	T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79|.	5.53|5.53	1.62|1.62	0.23740|0.23740	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50548|0.50548	0.1622|0.1622	L|L	0.36672|0.36672	1.1|1.1	0.50467|0.50467	D|D	0.999873|0.999873	D;D;D|.	0.64830|.	0.981;0.967;0.994|.	D;P;D|.	0.65140|.	0.923;0.839;0.932|.	T|T	0.31308|0.31308	-0.9948|-0.9948	10|5	0.72032|.	D|.	0.01|.	.|.	9.3801|9.3801	0.38309|0.38309	0.0:0.2868:0.0:0.7132|0.0:0.2868:0.0:0.7132	.|.	1270;1270;1291|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	M|W	1270;1270;1291;1291|181	ENSP00000362895:I1270M;ENSP00000389000:I1270M;ENSP00000406549:I1291M;ENSP00000276072:I1291M|.	ENSP00000276072:I1291M|.	I|L	+|+	3|2	3|0	TAF1|TAF1	70538129|70538129	0.834000|0.834000	0.29399|0.29399	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	-0.103000|-0.103000	0.10940|0.10940	0.228000|0.228000	0.21019|0.21019	0.342000|0.342000	0.21767|0.21767	ATT|TTG	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	T	NM_004606		70621404	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	0.999	G	G	70621404	T	G	70621404	3	3	74	1	0	0	0	0	1	0	0	0	15543	1800	63	5	3971	5	TAF1	23	70621404	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	19720	70621404	84649156	1094	11789										
NHSL2	340527	genome.wustl.edu	37	chrX	71360613	71360613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgacagtgaaagggaggcaaGccctctgggttagtaaactg	14	7	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:71360613G>A	ENST00000373677.1	+	2	3379	c.2117G>A	c.(2116-2118)aGc>aAc	p.S706N	NHSL2_ENST00000535692.1_Missense_Mutation_p.S706N|NHSL2_ENST00000510661.1_Missense_Mutation_p.S841N|NHSL2_ENST00000540800.1_Missense_Mutation_p.S1072N			Q5HYW2	NHSL2_HUMAN	NHS-like 2	706										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AGGGAGGCAAGCCCTCTGGGT	0.537																																																	0													45	38	41					X																	71360613		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2117G>A	X.37:g.71360613G>A	ENSP00000362781:p.Ser706Asn		B2RN94	Missense_Mutation	SNP	NULL	p.S1072N	ENST00000373677.1	37	c.3215		X	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950850	0.53186	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.46063	1.5;0.89;0.88;0.89	5.93	1.13	0.20643	.	0.402929	0.24096	N	0.041584	T	0.25419	0.0618	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.002;0.001	B;B;B	0.29598	0.104;0.004;0.003	T	0.15037	-1.0451	10	0.40728	T	0.16	3.8343	1.2142	0.01910	0.3276:0.1387:0.388:0.1458	.	1072;841;706	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	N	1072;706;841;706	ENSP00000444617:S1072N;ENSP00000362781:S706N;ENSP00000424079:S841N;ENSP00000444914:S706N	ENSP00000362781:S706N	S	+	2	0	NHSL2	71277338	0.000000	0.05858	0.001000	0.08648	0.941000	0.58515	0.088000	0.14979	-0.215000	0.10063	0.600000	0.82982	AGC	NHSL2	-	NULL		0.537	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	G	NM_001013627		71360613	1	no_errors	ENST00000540800	ensembl	human	known	70_37	missense	SNP	0.000	A	A	71360613	G	A	71360613	3	1	74	1	0	0	0	0	1	0	0	0	10436	971	34	4	3237	4	NHSL2	23	71360613	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	739209	71360613	83909947	1095	11790										
RLIM	51132	genome.wustl.edu	37	chrX	73811719	73811719	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcaccaccggaactggaactAggactggaactggaacttga	11	10	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:73811719A>C	ENST00000332687.6	-	4	1649	c.1431T>G	c.(1429-1431)ccT>ccG	p.P477P	RLIM_ENST00000349225.2_Silent_p.P477P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	477	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						aactggaactaggactggaac	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													36	34	35					X																	73811719		2203	4300	6503	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1431T>G	X.37:g.73811719A>C			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P477	ENST00000332687.6	37	c.1431	CCDS14427.1	X																																																																																			RLIM	-	NULL		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	A	NM_016120		73811719	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	silent	SNP	1.000	C	C	73811719	A	C	73811719	2	2	74	1	0	0	0	0	0	0	0	1	13420	407	15	5		5	RLIM	23	73811719	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2451106	73811719	81458841	1096	11791										
GPR174	84636	genome.wustl.edu	37	chrX	78426874	78426874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttggtttctcatgtaccccTttcgcttccatgactgcaaa	6	12	1	1	rs137871290		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:78426874T>G	ENST00000276077.1	+	1	406	c.370T>G	c.(370-372)Ttt>Gtt	p.F124V		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CATGTACCCCTTTCGCTTCCA	0.458										HNSCC(63;0.18)																																							0													217	194	202					X																	78426874		2203	4300	6503	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.370T>G	X.37:g.78426874T>G	ENSP00000276077:p.Phe124Val		Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.F124V	ENST00000276077.1	37	c.370	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	t	14.49	2.550166	0.45383	.	.	ENSG00000147138	ENST00000276077	T	0.37411	1.2	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.121711	0.56097	D	0.000029	T	0.46190	0.1380	L	0.35854	1.095	0.44477	D	0.997412	D	0.69078	0.997	D	0.75020	0.985	T	0.27297	-1.0078	10	0.19147	T	0.46	.	12.7786	0.57464	0.0:0.0:0.0:1.0	.	124	Q9BXC1	GP174_HUMAN	V	124	ENSP00000276077:F124V	ENSP00000276077:F124V	F	+	1	0	GPR174	78313530	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	4.310000	0.59141	1.697000	0.51169	0.433000	0.28618	TTT	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	T	NM_032553		78426874	1	no_errors	ENST00000276077	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78426874	T	G	78426874	3	3	74	1	0	0	0	0	1	0	0	0	6691	1609	56	5	372	5	GPR174	23	78426874	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4615155	78426874	76843686	1097	11792										
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177089	89177089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ataagcctcttggaatatggAggccgctgcggacggcccgg	15	11	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:89177089A>G	ENST00000561129.2	+	1	135	c.5A>G	c.(4-6)gAg>gGg	p.E2G	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E2G			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGGAATATGGAGGCCGCTGCG	0.532																																																	0													38	46	44					X																	89177089		2201	4300	6501	SO:0001583	missense	90316			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.5A>G	X.37:g.89177089A>G	ENSP00000453704:p.Glu2Gly		Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E2G	ENST00000561129.2	37	c.5	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971045	0.34754	.	.	ENSG00000153779	ENST00000283891	T	0.66280	-0.2	2.42	1.19	0.21007	.	.	.	.	.	T	0.68476	0.3005	L	0.55481	1.735	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.54410	-0.8298	8	.	.	.	.	4.9181	0.13856	0.6823:0.3177:0.0:0.0	.	2	Q8IUE1	TF2LX_HUMAN	G	2	ENSP00000355119:E2G	.	E	+	2	0	TGIF2LX	89063745	0.640000	0.27243	0.082000	0.20525	0.004000	0.04260	1.336000	0.33850	0.237000	0.21200	-0.531000	0.04308	GAG	TGIF2LX	-	NULL		0.532	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	A	NM_138960		89177089	1	no_errors	ENST00000283891	ensembl	human	known	70_37	missense	SNP	0.081	G	G	89177089	A	G	89177089	3	3	74	1	0	0	0	0	1	0	0	0	15857	304	11	5	7	5	TGIF2LX	23	89177089	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	10750215	89177089	66093471	1098	11793										
DIAPH2	1730	genome.wustl.edu	37	chrX	96200544	96200544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agattcttgtgtgaacaaggCgaaagttgaagaaagtgaac	12	4	1	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:96200544C>T	ENST00000324765.8	+	14	1810	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	DIAPH2_ENST00000355827.4_Missense_Mutation_p.A488V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A484V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A488V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A488V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	488					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTGAACAAGGCGAAAGTTGAA	0.328																																																	0													71	67	68					X																	96200544		2203	4299	6502	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1463C>T	X.37:g.96200544C>T	ENSP00000321348:p.Ala488Val		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.A488V	ENST00000324765.8	37	c.1463	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827939	0.71143	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.82803	-1.64;-1.64;-1.58;-1.58;-1.65	5.38	5.38	0.77491	.	0.137401	0.48286	D	0.000184	D	0.89543	0.6745	M	0.86864	2.845	0.43300	D	0.99529	P;D	0.67145	0.898;0.996	B;P	0.52823	0.356;0.71	D	0.90888	0.4759	10	0.52906	T	0.07	.	16.8663	0.86029	0.0:1.0:0.0:0.0	.	488;488	O60879;O60879-2	DIAP2_HUMAN;.	V	488;484;488;488;488;495	ENSP00000362152:A488V;ENSP00000362145:A484V;ENSP00000348082:A488V;ENSP00000362140:A488V;ENSP00000321348:A488V	ENSP00000321348:A488V	A	+	2	0	DIAPH2	96087200	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.338000	0.72963	2.382000	0.81193	0.600000	0.82982	GCG	DIAPH2	-	NULL		0.328	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96200544	1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96200544	C	T	96200544	3	4	74	1	0	0	0	0	1	0	0	0	4529	768	27	2	1517	2	DIAPH2	23	96200544	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	7023455	96200544	59070016	1099	11794										
ZMAT1	84460	genome.wustl.edu	37	chrX	101138741	101138741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tatgcttggactgctctttcTctggcctttctttgccttct	7	12	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:101138741T>C	ENST00000372782.3	-	7	1705	c.1658A>G	c.(1657-1659)gAg>gGg	p.E553G	ZMAT1_ENST00000540921.1_Missense_Mutation_p.E553G|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.E382G	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	553						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTGCTCTTTCTCTGGCCTTTC	0.403																																																	0													228	185	200					X																	101138741		2203	4300	6503	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1658A>G	X.37:g.101138741T>C	ENSP00000361868:p.Glu553Gly		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.E553G	ENST00000372782.3	37	c.1658	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728381	0.30593	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.26067	2.34;2.34;1.76	4.37	4.37	0.52481	.	0.390573	0.25355	N	0.031263	T	0.20780	0.0500	L	0.43152	1.355	0.29270	N	0.870769	D	0.53151	0.958	B	0.42692	0.395	T	0.22661	-1.0210	10	0.72032	D	0.01	-13.0141	5.6273	0.17490	0.0:0.1188:0.0:0.8812	.	553	Q5H9K5	ZMAT1_HUMAN	G	553;553;382	ENSP00000361868:E553G;ENSP00000437529:E553G;ENSP00000413044:E382G	ENSP00000361868:E553G	E	-	2	0	ZMAT1	101025397	1.000000	0.71417	0.987000	0.45799	0.568000	0.35870	3.937000	0.56575	1.913000	0.55393	0.486000	0.48141	GAG	ZMAT1	-	NULL		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	T			101138741	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	0.999	C	C	101138741	T	C	101138741	3	2	74	1	0	0	0	0	1	0	0	0	17721	1551	54	5	262	5	ZMAT1	23	101138741	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	4938197	101138741	54131819	1100	11795										
NXF2	728343	genome.wustl.edu	37	chrX	101620151	101620151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gccgtgatactcacggggctGagtccttggggtcgaaggga	17	9	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:101620151G>A	ENST00000372750.1	-	20	2094	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	NXF2B_ENST00000412230.2_Missense_Mutation_p.S432L|NXF2B_ENST00000372749.1_Missense_Mutation_p.S432L|NXF2B_ENST00000489531.1_5'UTR|NXF2B_ENST00000372752.1_Missense_Mutation_p.S344L|NXF2B_ENST00000457521.2_Missense_Mutation_p.S432L			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	432	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TCACGGGGCTGAGTCCTTGGG	0.582																																																	0													64	66	66					X																	101620151		966	1981	2947	SO:0001583	missense	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1295C>T	X.37:g.101620151G>A	ENSP00000361836:p.Ser432Leu		Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.S432L	ENST00000372750.1	37	c.1295	CCDS43979.1	X	.	.	.	.	.	.	.	.	.	.	.	7.749	0.702996	0.15172	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.67	0.893	0.19236	.	0.429999	0.24571	N	0.037398	T	0.45196	0.1330	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24190	-1.0167	7	0.25751	T	0.34	-0.7918	3.8031	0.08765	0.3169:0.187:0.4961:0.0	.	.	.	.	L	344;432;432;432;432	ENSP00000361838:S344L;ENSP00000396447:S432L;ENSP00000361835:S432L;ENSP00000361836:S432L;ENSP00000413087:S432L	ENSP00000361835:S432L	S	-	2	0	NXF2B	101506807	0.848000	0.29623	0.000000	0.03702	0.018000	0.09664	1.078000	0.30754	0.061000	0.16311	0.455000	0.32223	TCA	NXF2B	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.582	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	HGNC	protein_coding	OTTHUMT00000058979.1	G			101620151	-1	no_errors	ENST00000372749	ensembl	human	known	70_37	missense	SNP	0.023	A	A	101620151	G	A	101620151	3	1	74	1	0	0	0	0	1	0	0	0	10807	1294	45	1	2582	1	NXF2	23	101620151	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	481410	101620151	53650409	1101	11796										
BHLHB9	80823	genome.wustl.edu	37	chrX	102004336	102004336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tagtttcagcactaagaatgAtaaacctgaaattggtgccc	8	8	1	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:102004336A>G	ENST00000372735.1	+	4	998	c.413A>G	c.(412-414)gAt>gGt	p.D138G	BHLHB9_ENST00000361229.4_Missense_Mutation_p.D138G|BHLHB9_ENST00000457056.1_Missense_Mutation_p.D138G|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D138G|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D138G			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	138					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTAAGAATGATAAACCTGAA	0.537																																																	0													79	77	78					X																	102004336		2203	4300	6503	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.413A>G	X.37:g.102004336A>G	ENSP00000361820:p.Asp138Gly		Q9C0G2	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.D138G	ENST00000372735.1	37	c.413	CCDS14502.1	X	.	.	.	.	.	.	.	.	.	.	A	1.719	-0.497110	0.04291	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.46	2.01	0.26516	.	1.948520	0.03041	N	0.153401	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.31806	-0.9930	9	.	.	.	-18.8968	2.4842	0.04595	0.5743:0.0:0.2199:0.2058	.	138	Q6PI77	BHLH9_HUMAN	G	138	ENSP00000403226:D138G;ENSP00000354675:D138G;ENSP00000405893:D138G;ENSP00000391722:D138G;ENSP00000361820:D138G	.	D	+	2	0	BHLHB9	101890992	1.000000	0.71417	0.105000	0.21289	0.029000	0.11900	1.773000	0.38563	0.301000	0.22738	0.430000	0.28490	GAT	BHLHB9	-	NULL		0.537	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	A	NM_030639		102004336	1	no_errors	ENST00000361229	ensembl	human	known	70_37	missense	SNP	0.199	G	G	102004336	A	G	102004336	3	3	74	1	0	0	0	0	1	0	0	0	1421	333	12	5	415	5	BHLHB9	23	102004336	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	384185	102004336	53266224	1102	11797										
H2BFWT	158983	genome.wustl.edu	37	chrX	103268214	103268214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgtggaccggggaagccgggGcacttcggtacgcagcatgg	18	10	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:103268214G>A	ENST00000217926.5	-	1	45	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	7						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGAAGCCGGGGCACTTCGGTA	0.607																																																	0													33	28	29					X																	103268214		2202	4298	6500	SO:0001583	missense	158983			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.19C>T	X.37:g.103268214G>A	ENSP00000354723:p.Pro7Ser		B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P7S	ENST00000217926.5	37	c.19	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	2.194	-0.384549	0.04966	.	.	ENSG00000123569	ENST00000217926	T	0.27402	1.67	1.7	-3.4	0.04853	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.14337	-1.0476	9	0.30078	T	0.28	.	0.9219	0.01317	0.2326:0.3175:0.2855:0.1644	.	7	Q7Z2G1	H2BWT_HUMAN	S	7	ENSP00000354723:P7S	ENSP00000354723:P7S	P	-	1	0	H2BFWT	103154870	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.825000	0.00357	-2.521000	0.00497	-1.446000	0.01064	CCC	H2BFWT	-	NULL		0.607	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	G	NM_001002916		103268214	-1	no_errors	ENST00000217926	ensembl	human	known	70_37	missense	SNP	0.000	A	A	103268214	G	A	103268214	3	1	74	1	0	0	0	0	1	0	0	0	6952	1203	42	4	516	4	H2BFWT	23	103268214	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1263878	103268214	52002346	1103	11798										
TSC22D3	1831	genome.wustl.edu	37	chrX	106959164	106959164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cttgttgtctatggccaccaCgctggctccggaggcactgc	12	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:106959164C>T	ENST00000372397.2	-	2	462	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TSC22D3_ENST00000372384.2_Missense_Mutation_p.V113M|TSC22D3_ENST00000315660.4_Missense_Mutation_p.V113M|TSC22D3_ENST00000506081.1_Missense_Mutation_p.V113M|TSC22D3_ENST00000372383.4_Missense_Mutation_p.V113M|TSC22D3_ENST00000514426.1_Missense_Mutation_p.V45M|TSC22D3_ENST00000372382.4_Missense_Mutation_p.V23M|TSC22D3_ENST00000372390.4_De_novo_Start_InFrame	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	47	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)			breast(1)|large_intestine(2)|lung(3)	6						ATGGCCACCACGCTGGCTCCG	0.532																																																	0													169	104	126					X																	106959164		2203	4300	6503	SO:0001583	missense	1831			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.139G>A	X.37:g.106959164C>T	ENSP00000361474:p.Val47Met		Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.V113M	ENST00000372397.2	37	c.337	CCDS14531.1	X	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460673	0.63513	.	.	ENSG00000157514	ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000503515;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650	.	.	.	4.62	4.62	0.57501	.	0.063700	0.64402	D	0.000009	T	0.73606	0.3608	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.68192	0.698;0.956	T	0.76621	-0.2892	9	0.72032	D	0.01	.	14.5028	0.67734	0.0:1.0:0.0:0.0	.	113;47	Q99576-3;Q99576	.;T22D3_HUMAN	M	47;113;113;113;92;23;113;45;47;113;113;113;113	.	ENSP00000314655:V113M	V	-	1	0	TSC22D3	106845820	1.000000	0.71417	0.999000	0.59377	0.122000	0.20287	5.646000	0.67916	2.221000	0.72209	0.600000	0.82982	GTG	TSC22D3	-	NULL		0.532	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057843.2	C	NM_198057		106959164	-1	no_errors	ENST00000315660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106959164	C	T	106959164	3	4	74	1	0	0	0	0	1	0	0	0	16640	536	19	2	273	2	TSC22D3	23	106959164	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3690950	106959164	48311396	1104	11799										
IRS4	8471	genome.wustl.edu	37	chrX	107978807	107978807	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	acctcctcgtcggttagacaCagccggaacacgccgctcag	10	16	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:107978807C>G	ENST00000372129.2	-	1	844	c.768G>C	c.(766-768)ctG>ctC	p.L256L	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	256	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGGTTAGACACAGCCGGAACA	0.607																																																	0													58	49	52					X																	107978807		2203	4300	6503	SO:0001819	synonymous_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.768G>C	X.37:g.107978807C>G				Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.L256	ENST00000372129.2	37	c.768	CCDS14544.1	X																																																																																			IRS4	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1		0.607	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	C	NM_003604		107978807	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	silent	SNP	0.997	G	G	107978807	C	G	107978807	2	3	74	1	0	0	0	0	0	0	0	1	7862	465	17	4		4	IRS4	23	107978807	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1019643	107978807	47291753	1105	11800										
ACSL4	2182	genome.wustl.edu	37	chrX	108911444	108911444	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aggagatagcggggcccctcCagacagcatcatgcggacat	13	12	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:108911444C>A	ENST00000469796.2	-	11	1720	c.1324G>T	c.(1324-1326)Gga>Tga	p.G442*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G401*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.G442*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	442					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GGGGCCCCTCCAGACAGCATC	0.483																																					Pancreas(188;358 2127 38547 41466 45492)												0													117	99	105					X																	108911444		2203	4300	6503	SO:0001587	stop_gained	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1324G>T	X.37:g.108911444C>A	ENSP00000419171:p.Gly442*		D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G442*	ENST00000469796.2	37	c.1324	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	44	11.001339	0.99501	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.4497	18.7662	0.91874	0.0:1.0:0.0:0.0	.	.	.	.	X	401;442;442	.	ENSP00000339787:G442X	G	-	1	0	ACSL4	108798100	1.000000	0.71417	0.962000	0.40283	0.698000	0.40448	7.818000	0.86416	2.377000	0.81083	0.600000	0.82982	GGA	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.483	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108911444	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	108911444	C	A	108911444	4	1	74	1	0	0	0	0	0	1	0	0	179	603	21	4	835	4	ACSL4	23	108911444	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	932637	108911444	46359116	1106	11801										
CAPN6	827	genome.wustl.edu	37	chrX	110494902	110494902	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cgaattttgcgaatatcagtCatggtataggtatggccctt	10	7	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:110494902C>T	ENST00000324068.1	-	6	935	c.768G>A	c.(766-768)atG>atA	p.M256I	CAPN6_ENST00000541758.1_Start_Codon_SNP_p.M1I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	256	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAATATCAGTCATGGTATAGG	0.463																																																	0													292	285	287					X																	110494902		2203	4300	6503	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.768G>A	X.37:g.110494902C>T	ENSP00000317214:p.Met256Ile		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.M256I	ENST00000324068.1	37	c.768	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354771	0.41700	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;D	0.85171	1.47;-1.95	6.17	5.3	0.74995	Peptidase C2, calpain, catalytic domain (3);	0.230215	0.48767	D	0.000172	T	0.53867	0.1823	N	0.00073	-2.26	0.80722	D	1	B	0.15141	0.012	B	0.01281	0.0	T	0.60642	-0.7223	10	0.23302	T	0.38	.	14.943	0.71009	0.0:0.9292:0.0:0.0708	.	256	Q9Y6Q1	CAN6_HUMAN	I	256;1	ENSP00000317214:M256I;ENSP00000441736:M1I	ENSP00000317214:M256I	M	-	3	0	CAPN6	110381558	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.707000	0.37888	2.618000	0.88619	0.600000	0.82982	ATG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	C			110494902	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110494902	C	T	110494902	3	4	74	1	0	0	0	0	1	0	0	0	2635	826	29	1	1189	1	CAPN6	23	110494902	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1583458	110494902	44775658	1107	11802										
ALG13	79868	genome.wustl.edu	37	chrX	110961480	110961480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcgaggatgcccatactgatTacaagagttcaaatcagaat	9	8	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:110961480T>C	ENST00000394780.3	+	10	1240	c.1228T>C	c.(1228-1230)Tac>Cac	p.Y410H	ALG13_ENST00000251943.4_Missense_Mutation_p.Y306H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	410					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCATACTGATTACAAGAGTTC	0.373																																																	0													59	48	51					X																	110961480		1568	3578	5146	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1228T>C	X.37:g.110961480T>C	ENSP00000378260:p.Tyr410His		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.Y306H	ENST00000394780.3	37	c.916	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	T	9.791	1.177939	0.21787	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283;ENST00000436609	T;T;T	0.55413	1.51;0.52;1.53	5.52	-0.471	0.12119	.	0.924705	0.08914	U	0.875465	T	0.33876	0.0878	N	0.22421	0.69	0.09310	N	1	P;P;B	0.43094	0.799;0.697;0.112	P;B;B	0.44946	0.465;0.275;0.029	T	0.17167	-1.0378	10	0.17832	T	0.49	0.5089	0.4426	0.00488	0.1832:0.2624:0.1856:0.3688	.	332;410;306	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	H	306;410;306;101	ENSP00000251943:Y306H;ENSP00000378260:Y410H;ENSP00000427093:Y306H	ENSP00000251943:Y306H	Y	+	1	0	ALG13	110848136	0.774000	0.28592	0.016000	0.15963	0.042000	0.13812	0.209000	0.17435	0.182000	0.20032	-0.378000	0.06908	TAC	ALG13	-	NULL		0.373	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	T	NM_018466		110961480	1	no_errors	ENST00000251943	ensembl	human	known	70_37	missense	SNP	0.003	C	C	110961480	T	C	110961480	3	2	74	1	0	0	0	0	1	0	0	0	515	1754	61	5	1408	5	ALG13	23	110961480	Missense_Mutation	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	466578	110961480	44309080	1108	11803										
ALG13	79868	genome.wustl.edu	37	chrX	110964869	110964869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	aagatgcccttcccctataaGgtgctcaaagccctggatcc	8	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:110964869G>T	ENST00000394780.3	+	12	1377	c.1365G>T	c.(1363-1365)aaG>aaT	p.K455N	ALG13_ENST00000251943.4_Missense_Mutation_p.K351N	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	455					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TCCCCTATAAGGTGCTCAAAG	0.368																																																	0													80	65	70					X																	110964869		1567	3582	5149	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1365G>T	X.37:g.110964869G>T	ENSP00000378260:p.Lys455Asn		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.K351N	ENST00000394780.3	37	c.1053	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837607	0.71373	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.64618	0.91;-0.11;0.94	5.92	3.92	0.45320	.	0.000000	0.64402	U	0.000014	T	0.76941	0.4058	M	0.85777	2.775	0.36908	D	0.890732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.80113	-0.1518	10	0.59425	D	0.04	-8.5334	5.9247	0.19104	0.3777:0.0:0.6223:0.0	.	377;455;351	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	N	351;455;351	ENSP00000251943:K351N;ENSP00000378260:K455N;ENSP00000427093:K351N	ENSP00000251943:K351N	K	+	3	2	ALG13	110851525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.406000	0.34646	1.252000	0.44001	0.594000	0.82650	AAG	ALG13	-	NULL		0.368	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		110964869	1	no_errors	ENST00000251943	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110964869	G	T	110964869	3	4	74	1	0	0	0	0	1	0	0	0	515	991	35	4	1553	4	ALG13	23	110964869	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	3389	110964869	44305691	1109	11804										
AMOT	154796	genome.wustl.edu	37	chrX	112024238	112024238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gacatcagagacttcgctggCcgcatgcacgacagctgctc	11	14	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:112024238C>T	ENST00000524145.1	-	10	2423	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	AMOT_ENST00000371962.1_Silent_p.R551R|AMOT_ENST00000371959.3_Silent_p.R783R|AMOT_ENST00000371958.1_Silent_p.R551R|AMOT_ENST00000304758.1_Silent_p.R374R|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	783					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ACTTCGCTGGCCGCATGCACG	0.557																																																	0													206	188	194					X																	112024238		2203	4300	6503	SO:0001819	synonymous_variant	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2349G>A	X.37:g.112024238C>T			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.R783	ENST00000524145.1	37	c.2349	CCDS48154.1	X																																																																																			AMOT	-	pfam_Angiomotin_C		0.557	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	C	NM_133265		112024238	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	silent	SNP	0.994	T	T	112024238	C	T	112024238	2	4	74	1	0	0	0	0	0	0	0	1	582	726	26	4		4	AMOT	23	112024238	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1059369	112024238	43246322	1110	11805										
AMOT	154796	genome.wustl.edu	37	chrX	112058694	112058694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgggctctggaaacaatggcAaaagggtctgctggcactgg	15	8	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:112058694A>G	ENST00000524145.1	-	3	1358	c.1284T>C	c.(1282-1284)ttT>ttC	p.F428F	AMOT_ENST00000371962.1_Silent_p.F196F|AMOT_ENST00000371959.3_Silent_p.F428F|AMOT_ENST00000371958.1_Silent_p.F196F|AMOT_ENST00000304758.1_Silent_p.F19F			Q4VCS5	AMOT_HUMAN	angiomotin	428					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAACAATGGCAAAAGGGTCTG	0.547																																																	0													163	145	151					X																	112058694		2203	4300	6503	SO:0001819	synonymous_variant	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1284T>C	X.37:g.112058694A>G			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.F428	ENST00000524145.1	37	c.1284	CCDS48154.1	X																																																																																			AMOT	-	NULL		0.547	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	A	NM_133265		112058694	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	silent	SNP	1.000	G	G	112058694	A	G	112058694	2	3	74	1	0	0	0	0	0	0	0	1	582	127	5	5		5	AMOT	23	112058694	Silent	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	34456	112058694	43211866	1111	11806										
LRCH2	57631	genome.wustl.edu	37	chrX	114414315	114414315	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atctcattgcagctaatatcCtaaggagaacaataaaacag	6	8	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:114414315C>T	ENST00000317135.8	-	4	652		c.e4-1		LRCH2_ENST00000538422.1_Splice_Site	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2											breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGCTAATATCCTAAGGAGAAC	0.274																																																	0													41	33	36					X																	114414315		1787	4045	5832	SO:0001630	splice_region_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.622-1G>A	X.37:g.114414315C>T			F5H2T1|Q08AD5|Q9HA88|Q9P233	Splice_Site	SNP	-	e4-1	ENST00000317135.8	37	c.622-1	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619790	0.66787	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.59	0.84762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRCH2	114320571	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.541000	0.67212	2.313000	0.78055	0.538000	0.68166	.	LRCH2	-	-		0.274	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	C	NM_020871	Intron	114414315	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	114414315	C	T	114414315	5	4	74	1	0	0	0	0	0	0	1	0	8956	695	24	4	1748	4	LRCH2	23	114414315	Splice_Site	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	2355621	114414315	40856245	1112	11807										
KLHL13	90293	genome.wustl.edu	37	chrX	117054302	117054302	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gcatcagggtcacatcacaaAgcaatccttcaagtcgaagc	8	12	4	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:117054302A>C	ENST00000262820.3	-	3	1181	c.272T>G	c.(271-273)cTt>cGt	p.L91R	KLHL13_ENST00000469946.1_Missense_Mutation_p.L40R|KLHL13_ENST00000371878.1_Missense_Mutation_p.L40R|KLHL13_ENST00000371876.1_Missense_Mutation_p.L40R|KLHL13_ENST00000371882.1_Missense_Mutation_p.L40R|KLHL13_ENST00000545703.1_Missense_Mutation_p.L49R|KLHL13_ENST00000541812.1_Missense_Mutation_p.L75R|KLHL13_ENST00000540167.1_Missense_Mutation_p.L75R|KLHL13_ENST00000539496.1_Missense_Mutation_p.L94R	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	91					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CACATCACAAAGCAATCCTTC	0.428																																																	0													187	140	156					X																	117054302		2203	4300	6503	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.272T>G	X.37:g.117054302A>C	ENSP00000262820:p.Leu91Arg		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L94R	ENST00000262820.3	37	c.281	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	a	24.3	4.513468	0.85389	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.83	4.83	0.62350	BTB/POZ (1);BTB/POZ fold (2);	0.210262	0.41396	D	0.000898	D	0.88355	0.6414	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.71674	0.998;0.978;0.989;0.995	D;D;D;D	0.72625	0.978;0.923;0.951;0.971	D	0.91779	0.5434	10	0.87932	D	0	.	13.5803	0.61898	1.0:0.0:0.0:0.0	.	75;94;85;91	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	R	40;40;40;40;75;75;94;91;49;40	ENSP00000360949:L40R;ENSP00000360943:L40R;ENSP00000360945:L40R;ENSP00000412640:L40R;ENSP00000444450:L75R;ENSP00000441029:L75R;ENSP00000443191:L94R;ENSP00000262820:L91R;ENSP00000440707:L49R;ENSP00000419803:L40R	ENSP00000262820:L91R	L	-	2	0	KLHL13	116938330	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.136000	0.94489	1.779000	0.52309	0.438000	0.28831	CTT	KLHL13	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.428	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		A	NM_033495		117054302	-1	no_errors	ENST00000539496	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117054302	A	C	117054302	3	2	74	1	0	0	0	0	1	0	0	0	8389	72	3	5	1715	5	KLHL13	23	117054302	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2639987	117054302	38216258	1113	11808										
ODZ1	10178	genome.wustl.edu	37	chrX	123518301	123518301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgaagttgcccatcagcatcGtattcatagaagtaccttgt	8	9	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:123518301G>A	ENST00000371130.3	-	29	6522	c.6459C>T	c.(6457-6459)taC>taT	p.Y2153Y	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.Y2160Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2153					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATCAGCATCGTATTCATAGA	0.413																																																	0													183	158	167					X																	123518301		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6459C>T	X.37:g.123518301G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.Y2160	ENST00000371130.3	37	c.6480	CCDS14609.1	X																																																																																			TENM1	-	tigrfam_YD		0.413	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123518301	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	silent	SNP	0.359	A	A	123518301	G	A	123518301	2	1	74	1	0	0	0	0	0	0	0	1	10858	1140	40	2		2	ODZ1	23	123518301	Silent	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	6463999	123518301	31752259	1114	11809										
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299273	125299273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gagccacggtgccgtcgcggGagccgctcacagctacggtg	16	14	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:125299273G>A	ENST00000360028.2	-	1	661	c.635C>T	c.(634-636)tCc>tTc	p.S212F	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.S212F			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	212										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGTCGCGGGAGCCGCTCAC	0.642																																																	0													43	45	44					X																	125299273		2203	4298	6501	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.635C>T	X.37:g.125299273G>A	ENSP00000353128:p.Ser212Phe		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S212F	ENST00000360028.2	37	c.635	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301680	0.40694	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.74526	-0.85;-0.85	4.53	3.65	0.41850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.32852	N	0.005565	D	0.85053	0.5609	M	0.85945	2.785	0.40780	D	0.983165	D	0.89917	1.0	D	0.91635	0.999	D	0.86607	0.1870	10	0.87932	D	0	.	8.794	0.34868	0.1149:0.0:0.8851:0.0	.	212	Q5VW00	DC122_HUMAN	F	212	ENSP00000441489:S212F;ENSP00000353128:S212F	ENSP00000353128:S212F	S	-	2	0	DCAF12L2	125126954	1.000000	0.71417	0.661000	0.29709	0.010000	0.07245	6.857000	0.75455	2.167000	0.68274	0.544000	0.68410	TCC	DCAF12L2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125299273	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.999	A	A	125299273	G	A	125299273	3	1	74	1	0	0	0	0	1	0	0	0	4270	1174	41	1	760	1	DCAF12L2	23	125299273	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1780972	125299273	29971287	1115	11810										
SMARCA1	6594	genome.wustl.edu	37	chrX	128615115	128615115	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	taggcatccactgcgtagttTgctttgcgttctcgtttagg	11	9	1	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:128615115T>C	ENST00000371122.4	-	18	2394	c.2265A>G	c.(2263-2265)gcA>gcG	p.A755A	SMARCA1_ENST00000371121.3_Silent_p.A743A|SMARCA1_ENST00000371123.1_Silent_p.A743A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	755					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTGCGTAGTTTGCTTTGCGTT	0.423																																																	0													189	127	148					X																	128615115		2203	4300	6503	SO:0001819	synonymous_variant	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2265A>G	X.37:g.128615115T>C			Q5JV41|Q5JV42	Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A755	ENST00000371122.4	37	c.2265	CCDS14612.1	X																																																																																			SMARCA1	-	NULL		0.423	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	T	NM_003069		128615115	-1	no_errors	ENST00000371122	ensembl	human	known	70_37	silent	SNP	0.258	C	C	128615115	T	C	128615115	2	2	74	1	0	0	0	0	0	0	0	1	14798	1799	63	5		5	SMARCA1	23	128615115	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	3315842	128615115	26655445	1116	11811										
SASH3	54440	genome.wustl.edu	37	chrX	128914080	128914080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagggtggaggaccatgctgCgccgcaagccctccaatgcc	13	15	0	0	rs368987935		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:128914080C>T	ENST00000356892.3	+	1	121	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	3					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GACCATGCTGCGCCGCAAGCC	0.582																																																	0								C	CYS/ARG	1,3834		0,1,1631,571	89	78	82		7	5.3	1	X		82	0,6728		0,0,2428,1872	no	missense	SASH3	NM_018990.3	180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	3/381	128914080	1,10562	2203	4300	6503	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.7C>T	X.37:g.128914080C>T	ENSP00000349359:p.Arg3Cys		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.R3C	ENST00000356892.3	37	c.7	CCDS14614.1	X	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298252	0.60195	2.61E-4	0.0	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.54675	0.56	5.31	5.31	0.75309	.	0.054285	0.64402	D	0.000001	T	0.64483	0.2602	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.67738	-0.5593	10	0.87932	D	0	-4.6538	15.2979	0.73925	0.0:1.0:0.0:0.0	.	3	O75995	SASH3_HUMAN	C	3	ENSP00000349359:R3C	ENSP00000349359:R3C	R	+	1	0	SASH3	128741761	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.373000	0.59537	2.203000	0.70933	0.513000	0.50165	CGC	SASH3	-	NULL		0.582	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	C	NM_018990		128914080	1	no_errors	ENST00000356892	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128914080	C	T	128914080	3	4	74	1	0	0	0	0	1	0	0	0	13879	768	27	2	9	2	SASH3	23	128914080	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	298965	128914080	26356480	1117	11812										
UTP14A	10813	genome.wustl.edu	37	chrX	129042055	129042055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gggggacaatgatggagagaGaaagcatcaaaagcttctgg	15	5	2	3	rs201734952		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:129042055G>C	ENST00000394422.3	+	3	150	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R41T|UTP14A_ENST00000371051.5_Missense_Mutation_p.E9Q	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	41					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GATGGAGAGAGAAAGCATCAA	0.423																																																	0													111	97	102					X																	129042055		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.122G>C	X.37:g.129042055G>C	ENSP00000377944:p.Arg41Thr		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.R41T	ENST00000394422.3	37	c.122	CCDS14615.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.566524|3.566524	0.65651|0.65651	.|.	.|.	ENSG00000156697|ENSG00000156697	ENST00000371051|ENST00000425117;ENST00000394422	T|T;T	0.19532|0.17528	2.14|2.27;2.27	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42017|0.42017	0.1184|0.1184	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	P|D;D	0.51537|0.71674	0.946|0.998;0.997	P|D;D	0.49421|0.67231	0.61|0.95;0.925	T|T	0.42649|0.42649	-0.9439|-0.9439	9|10	0.20046|0.16420	T|T	0.44|0.52	-8.7759|-8.7759	14.7345|14.7345	0.69406|0.69406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	9|41;41	F8WD00|E9PEL7;Q9BVJ6	.|.;UT14A_HUMAN	Q|T	9|41	ENSP00000360090:E9Q|ENSP00000388669:R41T;ENSP00000377944:R41T	ENSP00000360090:E9Q|ENSP00000377944:R41T	E|R	+|+	1|2	0|0	UTP14A|UTP14A	128869736|128869736	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.824000|0.824000	0.46624|0.46624	4.283000|4.283000	0.58977|0.58977	2.060000|2.060000	0.61445|0.61445	0.422000|0.422000	0.28245|0.28245	GAA|AGA	UTP14A	-	pfam_SSU_processome_Utp14		0.423	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129042055	1	no_errors	ENST00000394422	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129042055	G	C	129042055	3	2	74	1	0	0	0	0	1	0	0	0	17126	942	33	1	132	1	UTP14A	23	129042055	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	127975	129042055	26228505	1118	11813										
RAB33A	9363	genome.wustl.edu	37	chrX	129306124	129306124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctcgactcgtcgctggacCagtacgtgcagattcgcatc	11	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:129306124C>A	ENST00000257017.4	+	1	502	c.88C>A	c.(88-90)Cag>Aag	p.Q30K		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	30					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTCGCTGGACCAGTACGTGCA	0.647																																																	0													67	52	57					X																	129306124		2203	4300	6503	SO:0001583	missense	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.88C>A	X.37:g.129306124C>A	ENSP00000257017:p.Gln30Lys		Q5JUZ6|Q92465	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q30K	ENST00000257017.4	37	c.88	CCDS14621.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025207	0.35701	.	.	ENSG00000134594	ENST00000257017	T	0.67345	-0.26	4.67	4.67	0.58626	.	0.402277	0.26708	N	0.022901	T	0.46639	0.1403	N	0.08118	0	0.33961	D	0.645617	B	0.14012	0.009	B	0.14023	0.01	T	0.51068	-0.8752	10	0.17832	T	0.49	-10.5824	16.6477	0.85180	0.0:1.0:0.0:0.0	.	30	Q14088	RB33A_HUMAN	K	30	ENSP00000257017:Q30K	ENSP00000257017:Q30K	Q	+	1	0	RAB33A	129133805	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	4.788000	0.62439	2.292000	0.77174	0.556000	0.70494	CAG	RAB33A	-	NULL		0.647	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	C	NM_004794		129306124	1	no_errors	ENST00000257017	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129306124	C	A	129306124	3	1	74	1	0	0	0	0	1	0	0	0	12952	595	21	4	90	4	RAB33A	23	129306124	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	264069	129306124	25964436	1119	11814										
HS6ST2	90161	genome.wustl.edu	37	chrX	131762895	131762895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtcaggtcggagagcatgcGcacctggcggttgttggcta	17	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:131762895G>A	ENST00000370836.2	-	4	1589	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R118C|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R432C|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R286C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	392					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GAGAGCATGCGCACCTGGCGG	0.537																																																	0													85	83	83					X																	131762895		2052	4202	6254	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1174C>T	X.37:g.131762895G>A	ENSP00000359873:p.Arg392Cys		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R432C	ENST00000370836.2	37	c.1294	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572351	0.65765	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.75704	0.98;0.98;0.98;-0.96;0.98	6.02	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89870	0.4022	9	.	.	.	0.6327	13.4915	0.61397	0.0761:0.0:0.9239:0.0	.	392;432;118	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	C	246;392;432;118;286	ENSP00000359874:R246C;ENSP00000359873:R392C;ENSP00000429473:R432C;ENSP00000384013:R118C;ENSP00000359870:R286C	.	R	-	1	0	HS6ST2	131590576	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.869000	0.99810	1.295000	0.44724	0.600000	0.82982	CGC	HS6ST2	-	pfam_Sulfotransferase		0.537	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	G	NM_147174		131762895	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131762895	G	A	131762895	3	1	74	1	0	0	0	0	1	0	0	0	7391	1087	38	2	647	2	HS6ST2	23	131762895	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	2456771	131762895	23507665	1120	11815										
SLC9A6	10479	genome.wustl.edu	37	chrX	135095119	135095119	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagtcttacgtgacaaagttCaccaaattacgggagttcca	8	10	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:135095119C>T	ENST00000370698.3	+	8	992	c.957C>T	c.(955-957)ttC>ttT	p.F319F	SLC9A6_ENST00000370695.4_Silent_p.F351F|SLC9A6_ENST00000370701.1_Silent_p.F299F	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	319					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGACAAAGTTCACCAAATTAC	0.428																																																	0													234	202	213					X																	135095119		2203	4300	6503	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.957C>T	X.37:g.135095119C>T			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F351	ENST00000370698.3	37	c.1053	CCDS14654.1	X																																																																																			SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.428	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	C	NM_006359		135095119	1	no_errors	ENST00000370695	ensembl	human	known	70_37	silent	SNP	1.000	T	T	135095119	C	T	135095119	2	4	74	1	0	0	0	0	0	0	0	1	14748	825	29	1		1	SLC9A6	23	135095119	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3332224	135095119	20175441	1121	11816										
F9	2158	genome.wustl.edu	37	chrX	138643724	138643724	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagaacatacagagcaaaagCgaaatgtgattcgaattatt	8	6	0	3	rs137852248		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:138643724C>T	ENST00000218099.2	+	8	887	c.880C>T	c.(880-882)Cga>Tga	p.R294*	F9_ENST00000394090.2_Nonsense_Mutation_p.R256*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	294	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> G (in HEMB; severe).|R -> Q (in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4). {ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:1346975, ECO:0000269|PubMed:2472424, ECO:0000269|PubMed:7981722, ECO:0000269|PubMed:8257988}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGAGCAAAAGCGAAATGTGAT	0.348																																																	0			GRCh37	CM940592|CM940593	F9	M	rs137852248						155	133	140					X																	138643724		2203	4300	6503	SO:0001587	stop_gained	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.880C>T	X.37:g.138643724C>T	ENSP00000218099:p.Arg294*		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.R294*	ENST00000218099.2	37	c.880	CCDS14666.1	X	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696237	0.68386	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.42	3.52	0.40303	.	0.131690	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6592	0.56803	0.3051:0.6949:0.0:0.0	.	.	.	.	X	294;256	.	ENSP00000218099:R294X	R	+	1	2	F9	138471390	0.001000	0.12720	0.977000	0.42913	0.975000	0.68041	0.671000	0.25172	0.995000	0.38917	0.544000	0.68410	CGA	F9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6		0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	C			138643724	1	no_errors	ENST00000218099	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	138643724	C	T	138643724	4	4	74	1	0	0	0	0	0	1	0	0	5366	760	27	2	910	2	F9	23	138643724	Nonsense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3548605	138643724	16626836	1122	11817										
MAGEC3	139081	genome.wustl.edu	37	chrX	140969244	140969244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tggatgaaaaggtggacaagTtggtgcagtttcttctcctc	12	7	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:140969244T>C	ENST00000298296.1	+	4	571	c.571T>C	c.(571-573)Ttg>Ctg	p.L191L	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	191	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGACAAGTTGGTGCAGTT	0.453																																																	0													132	127	128					X																	140969244		2203	4300	6503	SO:0001819	synonymous_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.571T>C	X.37:g.140969244T>C			Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L191	ENST00000298296.1	37	c.571	CCDS14676.1	X																																																																																			MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.453	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	T	NM_138702		140969244	1	no_errors	ENST00000298296	ensembl	human	known	70_37	silent	SNP	0.000	C	C	140969244	T	C	140969244	2	2	74	1	0	0	0	0	0	0	0	1	9205	1722	60	5		5	MAGEC3	23	140969244	Silent	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	2325520	140969244	14301316	1123	11818										
MAGEC1	9947	genome.wustl.edu	37	chrX	140995697	140995697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tcctgtgagctccttcccctCctccacttcatcgagtcttt	5	17	2	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:140995697C>T	ENST00000285879.4	+	4	2793	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	836										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTCCCCTCCTCCACTTCA	0.557										HNSCC(15;0.026)																																							0													132	136	135					X																	140995697		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2507C>T	X.37:g.140995697C>T	ENSP00000285879:p.Ser836Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S836F	ENST00000285879.4	37	c.2507	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	-	9.053	0.992530	0.18966	.	.	ENSG00000155495	ENST00000285879	T	0.02345	4.33	0.548	0.548	0.17208	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.58432	D	0.999999	D	0.55605	0.972	P	0.58013	0.831	T	0.59484	-0.7446	9	0.66056	D	0.02	.	6.7639	0.23556	0.0:0.9998:0.0:2.0E-4	.	836	O60732	MAGC1_HUMAN	F	836	ENSP00000285879:S836F	ENSP00000285879:S836F	S	+	2	0	MAGEC1	140823363	0.021000	0.18746	0.006000	0.13384	0.005000	0.04900	2.347000	0.44036	0.523000	0.28482	0.171000	0.16805	TCC	MAGEC1	-	NULL		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140995697	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.708	T	T	140995697	C	T	140995697	3	4	74	1	0	0	0	0	1	0	0	0	9203	855	30	1	2513	1	MAGEC1	23	140995697	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	26453	140995697	14274863	1124	11819										
IDS	3423	genome.wustl.edu	37	chrX	148568846	148568846	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tttgtcctcatgaggaaaccTttaaaaaagaaaaaataatt	5	5	1	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:148568846T>G	ENST00000340855.6	-	8	1216				IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Splice_Site|IDS_ENST00000490775.1_Splice_Site|IDS_ENST00000537071.1_Intron|IDS_ENST00000422081.2_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGAGGAAACCTTTAAAAAAGA	0.338																																																	0													32	33	33					X																	148568846		2197	4291	6488	SO:0001627	intron_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1007-217A>C	X.37:g.148568846T>G			D3DWT4|Q14604|Q9BRM3	Splice_Site	SNP	-	e8-2	ENST00000340855.6	37	c.1007-2	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	T	3.836	-0.034710	0.07543	.	.	ENSG00000010404	ENST00000370441	.	.	.	3.98	-0.0731	0.13736	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2863	0.10857	0.1507:0.1858:0.0:0.6635	.	.	.	.	.	-1	.	.	.	-	.	.	IDS	148376751	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.566000	0.23593	-0.096000	0.12329	0.480000	0.44947	.	IDS	-	-		0.338	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	T			148568846	-1	no_errors	ENST00000370441	ensembl	human	known	70_37	splice_site	SNP	0.000	G	G	148568846	T	G	148568846	1	3	74	0	1	0	0	0	0	0	0	0	7523	1623	56	5		5	IDS	23	148568846	Intron	SNP	T	TCGA-EA-A3HU-01A-11D-A20U-09	7573149	148568846	6701714	1125	11820										
IDS	3423	genome.wustl.edu	37	chrX	148585784	148585784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cataacagcccagggaggggCgcaggtcatccacgatgatg	14	11	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:148585784C>T	ENST00000340855.6	-	2	352	c.143G>A	c.(142-144)cGc>cAc	p.R48H	IDS_ENST00000370443.4_Missense_Mutation_p.R48H|IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.R48H|IDS_ENST00000428056.2_Missense_Mutation_p.R48H|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000427113.2_Intron|IDS_ENST00000422081.2_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	48			R -> P (in MPS2; mild form). {ECO:0000269|PubMed:7581397, ECO:0000269|PubMed:9501270}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGGGAGGGGCGCAGGTCATC	0.552																																																	0			GRCh37	CM950658	IDS	M							80	55	63					X																	148585784		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.143G>A	X.37:g.148585784C>T	ENSP00000339801:p.Arg48His		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R48H	ENST00000340855.6	37	c.143	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806000	0.90623	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99908	-7.82;-7.82;-7.82;-7.82;-4.2	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.95684	0.8734	10	0.87932	D	0	.	15.4351	0.75140	0.0:1.0:0.0:0.0	.	48;48;48	O60597;P22304-2;P22304	.;.;IDS_HUMAN	H	48	ENSP00000339801:R48H;ENSP00000359470:R48H;ENSP00000359472:R48H;ENSP00000390241:R48H;ENSP00000429745:R48H	ENSP00000339801:R48H	R	-	2	0	IDS	148393688	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.186000	0.77722	1.824000	0.53156	0.436000	0.28706	CGC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.552	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148585784	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148585784	C	T	148585784	3	4	74	1	0	0	0	0	1	0	0	0	7523	768	27	2	1571	2	IDS	23	148585784	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	16938	148585784	6684776	1126	11821										
MAMLD1	10046	genome.wustl.edu	37	chrX	149680843	149680843	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	tgcccgctgcgatgggaacaCaagtgcccctggccaacaac	11	15	0	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:149680843C>A	ENST00000370401.2	+	0	3249				MAMLD1_ENST00000262858.5_3'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q833K|MAMLD1_ENST00000426613.2_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGGAACACAAGTGCCCCT	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.*614C>A	X.37:g.149680843C>A			B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.Q833K	ENST00000370401.2	37	c.2497	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	-	7.742	0.701543	0.15172	.	.	ENSG00000013619	ENST00000432680	T	0.62498	0.02	4.49	0.136	0.14780	.	.	.	.	.	T	0.32763	0.0840	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19321	-1.0309	9	0.06891	T	0.86	.	1.7115	0.02893	0.1662:0.3424:0.3244:0.1669	.	833	Q13495-3	.	K	833	ENSP00000414517:Q833K	ENSP00000414517:Q833K	Q	+	1	0	MAMLD1	149431501	0.007000	0.16637	0.002000	0.10522	0.016000	0.09150	0.834000	0.27518	-0.045000	0.13468	-0.718000	0.03613	CAA	MAMLD1	-	NULL		0.617	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149680843	1	no_errors	ENST00000432680	ensembl	human	known	70_37	missense	SNP	0.000	A	A	149680843	C	A	149680843	1	1	74	0	1	0	0	0	0	0	0	0	9231	479	17	4		4	MAMLD1	23	149680843	3'UTR	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1095059	149680843	5589717	1127	11822										
CNGA2	1260	genome.wustl.edu	37	chrX	150912869	150912869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cccagcagaagctcaagcagCgcatcacagttctggaaacc	9	14	3	1	rs149002674		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:150912869C>T	ENST00000329903.4	+	6	1927	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	632					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R632C(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAAGCAGCGCATCACAGT	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,3835		0,0,1632,571	108	91	97		1894	3.5	1	X	dbSNP_134	97	2,6726		0,2,2426,1872	no	missense	CNGA2	NM_005140.1	180	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging	632/665	150912869	2,10561	2203	4300	6503	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1894C>T	X.37:g.150912869C>T	ENSP00000328478:p.Arg632Cys		A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R632C	ENST00000329903.4	37	c.1894	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936422	0.34189	0.0	2.97E-4	ENSG00000183862	ENST00000329903	D	0.98455	-4.94	5.47	3.54	0.40534	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99215	1.0877	10	0.87932	D	0	.	10.0454	0.42184	0.5048:0.4952:0.0:0.0	.	632	Q16280	CNGA2_HUMAN	C	632	ENSP00000328478:R632C	ENSP00000328478:R632C	R	+	1	0	CNGA2	150663525	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	1.622000	0.36997	1.018000	0.39521	0.600000	0.82982	CGC	CNGA2	-	NULL		0.547	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	C	NM_005140		150912869	1	no_errors	ENST00000329903	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150912869	C	T	150912869	3	4	74	1	0	0	0	0	1	0	0	0	3602	768	27	2	1916	2	CNGA2	23	150912869	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	1232026	150912869	4357691	1128	11823										
GABRQ	55879	genome.wustl.edu	37	chrX	151821378	151821378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	agctcggatgagcgccatggCcatggccccagtgggaagcc	15	13	0	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:151821378C>T	ENST00000370306.2	+	9	1553	c.1533C>T	c.(1531-1533)ggC>ggT	p.G511G		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	511					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCGCCATGGCCATGGCCCCA	0.557																																																	0													79	68	72					X																	151821378		2203	4300	6503	SO:0001819	synonymous_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1533C>T	X.37:g.151821378C>T			A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.G511	ENST00000370306.2	37	c.1533	CCDS14707.1	X																																																																																			GABRQ	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.557	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	C	NM_018558		151821378	1	no_errors	ENST00000370306	ensembl	human	known	70_37	silent	SNP	0.000	T	T	151821378	C	T	151821378	2	4	74	1	0	0	0	0	0	0	0	1	6193	726	26	4		4	GABRQ	23	151821378	Silent	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	908509	151821378	3449182	1129	11824										
L1CAM	3897	genome.wustl.edu	37	chrX	153138085	153138085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ctggcctcacacttgaggctGatgtcatctgtggggaagac	13	10	3	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153138085G>C	ENST00000370060.1	-	4	348	c.159C>G	c.(157-159)atC>atG	p.I53M	L1CAM_ENST00000370055.1_Missense_Mutation_p.I48M|L1CAM_ENST00000543994.1_Missense_Mutation_p.I55M|L1CAM_ENST00000361981.3_Missense_Mutation_p.I48M|L1CAM_ENST00000370057.3_Missense_Mutation_p.I53M|L1CAM_ENST00000361699.4_Missense_Mutation_p.I53M|L1CAM_ENST00000538883.1_Missense_Mutation_p.I55M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	53	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGAGGCTGATGTCATCTG	0.617																																																	0													111	84	93					X																	153138085		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.159C>G	X.37:g.153138085G>C	ENSP00000359077:p.Ile53Met		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I55M	ENST00000370060.1	37	c.165	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684917	0.68157	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	4.69	1.76	0.24704	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088536	0.46145	D	0.000314	T	0.21761	0.0524	M	0.81112	2.525	0.39930	D	0.974279	P;B;P	0.43750	0.64;0.061;0.816	P;B;P	0.50405	0.507;0.113;0.64	T	0.05099	-1.0906	10	0.87932	D	0	.	1.0624	0.01604	0.1754:0.1484:0.3532:0.323	.	48;53;53	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	53;55;53;55;48;48;53;53;48;48;53	ENSP00000359077:I53M;ENSP00000438430:I55M;ENSP00000359074:I53M;ENSP00000439645:I55M;ENSP00000354712:I48M;ENSP00000359072:I48M;ENSP00000355380:I53M;ENSP00000402407:I53M;ENSP00000384902:I48M;ENSP00000392524:I48M;ENSP00000396079:I53M	ENSP00000355380:I53M	I	-	3	3	L1CAM	152791279	0.965000	0.33210	1.000000	0.80357	0.998000	0.95712	0.614000	0.24314	0.377000	0.24735	0.529000	0.55759	ATC	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153138085	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	0.988	C	C	153138085	G	C	153138085	3	2	74	1	0	0	0	0	1	0	0	0	8608	1280	45	1	3718	1	L1CAM	23	153138085	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	1316707	153138085	2132475	1130	11825										
HCFC1	3054	genome.wustl.edu	37	chrX	153220407	153220407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ccccagtggccacactgatcCggatcacggcaggggtgcca	13	15	1	1	rs372862114		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153220407C>A	ENST00000310441.7	-	17	4409	c.3443G>T	c.(3442-3444)cGg>cTg	p.R1148L	HCFC1_ENST00000369984.4_Missense_Mutation_p.R1148L|HCFC1_ENST00000354233.3_Missense_Mutation_p.R1079L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1148					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACTGATCCGGATCACGGC	0.667																																																	0													11	16	14					X																	153220407		2125	4194	6319	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3443G>T	X.37:g.153220407C>A	ENSP00000309555:p.Arg1148Leu		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R1148L	ENST00000310441.7	37	c.3443	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	c	7.950	0.744717	0.15710	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.05025	3.56;3.59;3.51	4.91	4.02	0.46733	.	0.428324	0.21345	N	0.076071	T	0.04048	0.0113	N	0.19112	0.55	0.09310	N	1	B	0.27498	0.18	B	0.17433	0.018	T	0.38520	-0.9657	10	0.51188	T	0.08	.	5.8813	0.18856	0.0:0.6967:0.1896:0.1138	.	1148	P51610	HCFC1_HUMAN	L	1148;1148;1079	ENSP00000309555:R1148L;ENSP00000359001:R1148L;ENSP00000346174:R1079L	ENSP00000309555:R1148L	R	-	2	0	HCFC1	152873601	0.086000	0.21541	0.018000	0.16275	0.202000	0.24057	1.720000	0.38022	0.829000	0.34733	0.525000	0.51046	CGG	HCFC1	-	NULL		0.667	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	C	NM_005334		153220407	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	0.016	A	A	153220407	C	A	153220407	3	1	74	1	0	0	0	0	1	0	0	0	7011	652	23	2	2704	2	HCFC1	23	153220407	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	82322	153220407	2050153	1131	11826										
HCFC1	3054	genome.wustl.edu	37	chrX	153223487	153223487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atcactcaccagagcactgcCtcctgggacagagatggggc	12	13	2	2			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153223487C>T	ENST00000310441.7	-	11	2983	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	HCFC1_ENST00000369984.4_Missense_Mutation_p.G673S|HCFC1_ENST00000354233.3_Missense_Mutation_p.G604S|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	673	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCACTGCCTCCTGGGACA	0.642																																																	0													40	41	40					X																	153223487		2084	4188	6272	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2017G>A	X.37:g.153223487C>T	ENSP00000309555:p.Gly673Ser		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.G673S	ENST00000310441.7	37	c.2017	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941361	0.73557	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04015	3.98;3.97;3.73	5.43	4.57	0.56435	.	0.266646	0.43110	D	0.000601	T	0.03348	0.0097	N	0.12746	0.255	0.49582	D	0.999803	B	0.23891	0.093	B	0.17979	0.02	T	0.52155	-0.8613	10	0.30854	T	0.27	.	11.9478	0.52938	0.0:0.9127:0.0:0.0872	.	673	P51610	HCFC1_HUMAN	S	673;673;604	ENSP00000309555:G673S;ENSP00000359001:G673S;ENSP00000346174:G604S	ENSP00000309555:G673S	G	-	1	0	HCFC1	152876681	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.397000	0.52572	1.063000	0.40649	0.544000	0.68410	GGC	HCFC1	-	NULL		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	C	NM_005334		153223487	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153223487	C	T	153223487	3	4	74	1	0	0	0	0	1	0	0	0	7011	681	24	4	4154	4	HCFC1	23	153223487	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	3080	153223487	2047073	1132	11827										
TMEM187	8269	genome.wustl.edu	37	chrX	153248009	153248009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	atccccagggcttcgaggtcGcactgggtgctcacgtggtg	15	12	1	0	rs149045617		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153248009G>A	ENST00000369982.4	+	2	1243	c.496G>A	c.(496-498)Gca>Aca	p.A166T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	166						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCGAGGTCGCACTGGGTGC	0.662													G|||	1	0.000264901	0	0	3775	,	,		13974	0		0	False		,,,				2504	0.001																0								G	THR/ALA	1,3834		0,1,0,1631,571	42	33	36		496	-0.3	0	X	dbSNP_134	36	1,6725		0,0,1,2427,1871	yes	missense	TMEM187	NM_003492.2	58	0,1,1,4058,2442	AA,AG,A,GG,G		0.0149,0.0261,0.0189	benign	166/262	153248009	2,10559	2203	4299	6502	SO:0001583	missense	8269			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.496G>A	X.37:g.153248009G>A	ENSP00000358999:p.Ala166Thr		B2RC47|Q6IAV7	Missense_Mutation	SNP	NULL	p.A166T	ENST00000369982.4	37	c.496	CCDS14739.1	X	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213590	0.39102	2.61E-4	1.49E-4	ENSG00000177854	ENST00000369982	T	0.31510	1.49	4.65	-0.277	0.12898	.	0.136586	0.27080	N	0.021031	T	0.23133	0.0559	L	0.49455	1.56	0.09310	N	1	B	0.29037	0.231	B	0.20955	0.032	T	0.12630	-1.0540	10	0.54805	T	0.06	.	9.3766	0.38286	0.4065:0.0:0.5935:0.0	.	166	Q14656	TM187_HUMAN	T	166	ENSP00000358999:A166T	ENSP00000358999:A166T	A	+	1	0	TMEM187	152901203	0.211000	0.23529	0.000000	0.03702	0.001000	0.01503	1.101000	0.31037	-0.237000	0.09739	-0.422000	0.05995	GCA	TMEM187	-	NULL		0.662	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM187	HGNC	protein_coding	OTTHUMT00000061093.1	G	NM_003492		153248009	1	no_errors	ENST00000369982	ensembl	human	known	70_37	missense	SNP	0.007	A	A	153248009	G	A	153248009	3	1	74	1	0	0	0	0	1	0	0	0	16139	1087	38	2	498	2	TMEM187	23	153248009	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	24522	153248009	2022551	1133	11828										
IRAK1	3654	genome.wustl.edu	37	chrX	153278869	153278869	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	caccactgcctgcagcttctCtagcctctcgtacacctgca	6	18	2	0			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153278869C>G	ENST00000369980.3	-	12	1722	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.E440Q	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTTCTCTAGCCTCTCG	0.662																																																	0																																										SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1555G>C	X.37:g.153278869C>G	ENSP00000358997:p.Glu519Gln		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E519Q	ENST00000369980.3	37	c.1555	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.72|16.72	3.202269|3.202269	0.58234|0.58234	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974|ENST00000444254;ENST00000443220	T;T|.	0.74632|.	1.31;-0.86|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|T	0.49626|0.49626	0.1568|0.1568	N|N	0.17764|0.17764	0.52|0.52	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.45920|0.45920	-0.9228|-0.9228	10|5	0.24483|.	T|.	0.36|.	-30.5185|-30.5185	13.7292|13.7292	0.62776|0.62776	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	440;519|.	P51617-4;P51617|.	.;IRAK1_HUMAN|.	Q|T	519;440|74;267	ENSP00000358997:E519Q;ENSP00000358991:E440Q|.	ENSP00000358991:E440Q|.	E|R	-|-	1|2	0|0	IRAK1|IRAK1	152932063|152932063	0.924000|0.924000	0.31332|0.31332	0.263000|0.263000	0.24496|0.24496	0.688000|0.688000	0.40055|0.40055	2.540000|2.540000	0.45727|0.45727	2.309000|2.309000	0.77851|0.77851	0.600000|0.600000	0.82982|0.82982	GAG|AGA	IRAK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.662	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	C			153278869	-1	no_errors	ENST00000369980	ensembl	human	known	70_37	missense	SNP	0.922	G	G	153278869	C	G	153278869	3	3	74	1	0	0	0	0	1	0	0	0	7841	922	32	1	595	1	IRAK1	23	153278869	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	30860	153278869	1991691	1134	11829										
ATP6AP1	537	genome.wustl.edu	37	chrX	153662561	153662561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggtgtttctgcaggtggcccGtgatgtagccgtggtggccg	18	9	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153662561G>A	ENST00000369762.2	+	7	753	c.692G>A	c.(691-693)cGt>cAt	p.R231H	ATP6AP1_ENST00000484908.1_3'UTR|GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	231					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGGCCCGTGATGTAGCC	0.572																																																	0													84	76	78					X																	153662561		2203	4300	6503	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.692G>A	X.37:g.153662561G>A	ENSP00000358777:p.Arg231His		A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	pfam_BIG/ATPase_V1_suS1	p.R231H	ENST00000369762.2	37	c.692	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189292	0.57909	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556;ENST00000445849	.	.	.	5.34	3.46	0.39613	.	0.374983	0.31358	N	0.007799	T	0.52517	0.1739	M	0.62723	1.935	0.21861	N	0.999508	D;D	0.89917	0.999;1.0	D;D	0.68943	0.93;0.961	T	0.42882	-0.9425	9	0.56958	D	0.05	-11.8612	3.6036	0.08034	0.0936:0.1645:0.5682:0.1737	.	191;231	B3KR70;Q15904	.;VAS1_HUMAN	H	231;161;229;55	.	ENSP00000358777:R231H	R	+	2	0	ATP6AP1	153315755	1.000000	0.71417	0.859000	0.33776	0.672000	0.39443	2.711000	0.47177	1.004000	0.39156	0.529000	0.55759	CGT	ATP6AP1	-	pfam_BIG/ATPase_V1_suS1		0.572	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	G	NM_001183		153662561	1	no_errors	ENST00000369762	ensembl	human	known	70_37	missense	SNP	0.332	A	A	153662561	G	A	153662561	3	1	74	1	0	0	0	0	1	0	0	0	1166	1145	40	2	718	2	ATP6AP1	23	153662561	Missense_Mutation	SNP	G	TCGA-EA-A3HU-01A-11D-A20U-09	383692	153662561	1607999	1135	11830										
PLXNA3	55558	genome.wustl.edu	37	chrX	153694577	153694577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	gtgggtgactgttcagccgaCttccgcacgcagtcggagca	14	12	1	1			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153694577C>A	ENST00000369682.3	+	15	2938	c.2763C>A	c.(2761-2763)gaC>gaA	p.D921E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	921	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTCAGCCGACTTCCGCACGC	0.662																																																	0													92	95	94					X																	153694577		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2763C>A	X.37:g.153694577C>A	ENSP00000358696:p.Asp921Glu		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D921E	ENST00000369682.3	37	c.2763	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	4.226	0.040776	0.08196	.	.	ENSG00000130827	ENST00000369682	T	0.59638	0.25	5.32	5.32	0.75619	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.685062	0.15130	N	0.278865	T	0.34542	0.0901	N	0.10782	0.045	0.37808	D	0.927956	B	0.06786	0.001	B	0.13407	0.009	T	0.20174	-1.0283	10	0.02654	T	1	.	12.5459	0.56199	0.0:0.8364:0.1636:0.0	.	921	P51805	PLXA3_HUMAN	E	921	ENSP00000358696:D921E	ENSP00000358696:D921E	D	+	3	2	PLXNA3	153347771	0.998000	0.40836	1.000000	0.80357	0.521000	0.34408	0.530000	0.23036	2.204000	0.70986	0.597000	0.82753	GAC	PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153694577	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153694577	C	A	153694577	3	1	74	1	0	0	0	0	1	0	0	0	12145	564	20	4	2817	4	PLXNA3	23	153694577	Missense_Mutation	SNP	C	TCGA-EA-A3HU-01A-11D-A20U-09	32016	153694577	1575983	1136	11831										
PLXNA3	55558	genome.wustl.edu	37	chrX	153697028	153697028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	cagagtcagtggctgagaagAtgcttaccaactggttcacg	12	9	2	3			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153697028A>G	ENST00000369682.3	+	24	4418	c.4243A>G	c.(4243-4245)Atg>Gtg	p.M1415V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1415					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGAGAAGATGCTTACCAA	0.632																																																	0													112	89	97					X																	153697028		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4243A>G	X.37:g.153697028A>G	ENSP00000358696:p.Met1415Val		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.M1415V	ENST00000369682.3	37	c.4243	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692857	0.68271	.	.	ENSG00000130827	ENST00000369682	T	0.14144	2.53	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P	0.48016	0.904	P	0.52957	0.714	T	0.48222	-0.9054	10	0.87932	D	0	.	13.2133	0.59839	1.0:0.0:0.0:0.0	.	1415	P51805	PLXA3_HUMAN	V	1415	ENSP00000358696:M1415V	ENSP00000358696:M1415V	M	+	1	0	PLXNA3	153350222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.243000	0.72384	1.830000	0.53286	0.483000	0.47432	ATG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	A	NM_017514		153697028	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153697028	A	G	153697028	3	3	74	1	0	0	0	0	1	0	0	0	12145	333	12	5	4333	5	PLXNA3	23	153697028	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	2451	153697028	1573532	1137	11832										
F8	2157	genome.wustl.edu	37	chrX	154066024	154066024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.227031802120141	257	3.24557197006568e-41	2.43846623792524	5.83989006330132	1.62320433692241	0.122063485896192	0.311583108735016	152	ggagtcttgatttccctgaaAaacctgaaagaggaaagata	10	6	1	5			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:154066024A>G	ENST00000360256.4	-	26	7104	c.6904T>C	c.(6904-6906)Ttt>Ctt	p.F2302L	F8_ENST00000330287.6_Missense_Mutation_p.F167L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2302	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCCCTGAAAAACCTGAAAG	0.468																																																	0			GRCh37	CM055240	F8	M							58	53	54					X																	154066024		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6904T>C	X.37:g.154066024A>G	ENSP00000353393:p.Phe2302Leu		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F2302L	ENST00000360256.4	37	c.6904	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	a	22.1	4.249564	0.80024	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.97870	-4.58;-4.58	4.74	4.74	0.60224	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.82193	2.58	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99116	1.0848	10	0.87932	D	0	-16.0851	9.7145	0.40265	1.0:0.0:0.0:0.0	.	2302;167	P00451;Q14286	FA8_HUMAN;.	L	167;2302	ENSP00000327895:F167L;ENSP00000353393:F2302L	ENSP00000327895:F167L	F	-	1	0	F8	153719218	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.423000	0.66458	1.553000	0.49476	0.427000	0.28365	TTT	F8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.468	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	A			154066024	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154066024	A	G	154066024	3	3	74	1	0	0	0	0	1	0	0	0	5362	14	1	5	155	5	F8	23	154066024	Missense_Mutation	SNP	A	TCGA-EA-A3HU-01A-11D-A20U-09	368996	154066024	1204536	1138	11833										
ERRFI1	54206	genome.wustl.edu	37	chr1	8073498	8073498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	taatgtgttgaactaaccttCttcccattttcaataatggg	6	8	2	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:8073498C>T	ENST00000377482.5	-	4	1384	c.1161G>A	c.(1159-1161)aaG>aaA	p.K387K	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	387					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AACTAACCTTCTTCCCATTTT	0.423																																																	0													148	145	146					1																	8073498		2203	4300	6503	SO:0001819	synonymous_variant	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1161G>A	1.37:g.8073498C>T			B2RDX9|Q9NTG9|Q9UD05	Silent	SNP	pfam_GTPase_binding,pfam_Inhibitor_Mig-6	p.K387	ENST00000377482.5	37	c.1161	CCDS94.1	1																																																																																			ERRFI1	-	NULL		0.423	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERRFI1	HGNC	protein_coding	OTTHUMT00000003617.1	C	NM_018948		8073498	-1	no_errors	ENST00000377482	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8073498	C	T	8073498	2	4	75	1	0	0	0	0	0	0	0	1	5256	912	32	1		1	ERRFI1	1	8073498	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		8073498	241177123	1	11834										
RCC1	1104	genome.wustl.edu	37	chr1	28862519	28862519	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cacgtgtacggcttcggcctCtccaactaccatcagcttgg	9	15	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:28862519C>T	ENST00000373833.6	+	10	1083	c.798C>T	c.(796-798)ctC>ctT	p.L266L	RCC1_ENST00000398958.2_Silent_p.L266L|RCC1_ENST00000373832.1_Silent_p.L266L|RCC1_ENST00000373831.3_Silent_p.L297L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	266					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCGGCCTCTCCAACTACC	0.597																																																	0													94	80	85					1																	28862519		2203	4300	6503	SO:0001819	synonymous_variant	1104			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.798C>T	1.37:g.28862519C>T			Q16269|Q6NT97	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L297	ENST00000373833.6	37	c.891	CCDS323.1	1																																																																																			RCC1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.597	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	HGNC	protein_coding	OTTHUMT00000010323.3	C	NM_001269		28862519	1	no_errors	ENST00000373831	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28862519	C	T	28862519	2	4	75	1	0	0	0	0	0	0	0	1	13203	900	32	1		1	RCC1	1	28862519	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	20789021	28862519	220388102	2	11835										
BAI2	576	genome.wustl.edu	37	chr1	32221619	32221619	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ccatatctcatctcggttgtGaacagatcattgctgctccc	7	13	3	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:32221619G>A	ENST00000373658.3	-	4	1160	c.819C>T	c.(817-819)ttC>ttT	p.F273F	MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Silent_p.F261F|BAI2_ENST00000398556.3_Silent_p.F276F|BAI2_ENST00000398538.1_Silent_p.F261F|BAI2_ENST00000373655.2_Silent_p.F273F|BAI2_ENST00000257070.4_Silent_p.F273F|BAI2_ENST00000398547.1_Silent_p.F261F|BAI2_ENST00000527361.1_Silent_p.F273F	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	273					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCTCGGTTGTGAACAGATCAT	0.652																																																	0													65	69	68					1																	32221619		2203	4300	6503	SO:0001819	synonymous_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.819C>T	1.37:g.32221619G>A			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.F273	ENST00000373658.3	37	c.819	CCDS346.2	1																																																																																			BAI2	-	NULL		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32221619	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32221619	G	A	32221619	2	1	75	1	0	0	0	0	0	0	0	1	1300	1281	45	1		1	BAI2	1	32221619	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	3359100	32221619	217029002	3	11836										
USP33	23032	genome.wustl.edu	37	chr1	78183553	78183553	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gttaaacctatatacttactActtgcagttccatgatggca	6	9	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:78183553A>C	ENST00000370793.1	-	18	2356	c.2010T>G	c.(2008-2010)agT>agG	p.S670R	USP33_ENST00000357428.1_Splice_Site_p.S670R|USP33_ENST00000370792.3_Splice_Site_p.S662R|USP33_ENST00000370794.3_Splice_Site_p.S639R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	670	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TATACTTACTACTTGCAGTTC	0.388																																					Melanoma(152;72 1870 11110 26780 42647)												0													92	94	94					1																	78183553		2203	4300	6503	SO:0001630	splice_region_variant	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2011+1T>G	1.37:g.78183553A>C			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S670R	ENST00000370793.1	37	c.2010	CCDS678.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.61|15.61	2.883748|2.883748	0.51908|0.51908	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792|ENST00000481579	T;T;T;T|.	0.33654|.	1.4;1.47;1.47;1.4|.	4.7|4.7	1.06|1.06	0.20224|0.20224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40040|0.40040	0.1101|0.1101	L|L	0.49350|0.49350	1.555|1.555	0.52501|0.52501	D|D	0.999951|0.999951	P;P;P;P|.	0.51933|.	0.937;0.831;0.949;0.544|.	P;P;P;P|.	0.59825|.	0.786;0.602;0.864;0.555|.	T|T	0.26467|0.26467	-1.0102|-1.0102	10|5	0.31617|.	T|.	0.26|.	.|.	7.5241|7.5241	0.27645|0.27645	0.4985:0.0:0.5015:0.0|0.4985:0.0:0.5015:0.0	.|.	662;639;670;4|.	Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417|.	.;.;UBP33_HUMAN;.|.	R|G	639;670;670;662|275	ENSP00000359830:S639R;ENSP00000359829:S670R;ENSP00000350009:S670R;ENSP00000359828:S662R|.	ENSP00000350009:S670R|.	S|V	-|-	3|2	2|0	USP33|USP33	77956141|77956141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	2.532000|2.532000	0.45659|0.45659	0.288000|0.288000	0.22398|0.22398	0.460000|0.460000	0.39030|0.39030	AGT|GTA	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	A	NM_015017	Missense_Mutation	78183553	-1	no_errors	ENST00000357428	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78183553	A	C	78183553	5	2	75	1	0	0	0	0	0	0	1	0	17095	405	14	5	862	5	USP33	1	78183553	Splice_Site	SNP	A	TCGA-EA-A3QD-01A-32D-A22X-09	45961934	78183553	171067068	4	11837										
PI4KB	5298	genome.wustl.edu	37	chr1	151278698	151278698	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agtgctgaagctgccagctcGctgctcatgggtaataccac	11	12	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:151278698G>A	ENST00000368873.1	-	5	1492	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R427*|PI4KB_ENST00000368875.2_Nonsense_Mutation_p.R454*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.R110*|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R427*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R454*			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	442					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCAGCTCGCTGCTCATGG	0.562																																					Colon(154;765 1838 9854 28443 37492)												0													104	88	93					1																	151278698		2203	4300	6503	SO:0001587	stop_gained	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1324C>T	1.37:g.151278698G>A	ENSP00000357867:p.Arg442*		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R454*	ENST00000368873.1	37	c.1360		1	.	.	.	.	.	.	.	.	.	.	G	41	8.750980	0.98939	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800	.	.	.	5.88	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-16.528	9.7092	0.40233	0.0741:0.0:0.7858:0.1402	.	.	.	.	X	427;454;454;442;110;427;110	.	ENSP00000271657:R454X	R	-	1	2	PI4KB	149545322	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.080000	0.41586	1.489000	0.48450	-0.157000	0.13467	CGA	PI4KB	-	superfamily_Kinase-like_dom		0.562	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	G	NM_002651		151278698	-1	no_errors	ENST00000271657	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151278698	G	A	151278698	4	1	75	1	0	0	0	0	0	1	0	0	11898	1095	38	2	1158	2	PI4KB	1	151278698	Nonsense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	73095145	151278698	97971923	5	11838										
ATP1A4	480	genome.wustl.edu	37	chr1	160124943	160124943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aattctgtaagcaactgttcGgaggcttctccctcctacta	7	12	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:160124943G>A	ENST00000368081.4	+	3	787	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	106					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAACTGTTCGGAGGCTTCTC	0.512																																																	0													87	85	86					1																	160124943		2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.316G>A	1.37:g.160124943G>A	ENSP00000357060:p.Gly106Arg		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G106R	ENST00000368081.4	37	c.316	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497335	0.64186	.	.	ENSG00000132681	ENST00000368081	T	0.78707	-1.2	4.48	3.57	0.40892	ATPase, P-type cation-transporter, N-terminal (2);	0.060029	0.64402	D	0.000004	D	0.88396	0.6425	H	0.96460	3.825	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.90213	0.4266	10	0.87932	D	0	.	10.0471	0.42192	0.0988:0.0:0.9012:0.0	.	106	Q13733	AT1A4_HUMAN	R	106	ENSP00000357060:G106R	ENSP00000357060:G106R	G	+	1	0	ATP1A4	158391567	1.000000	0.71417	0.225000	0.23894	0.550000	0.35303	6.536000	0.73842	1.098000	0.41479	0.655000	0.94253	GGA	ATP1A4	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.512	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	G	NM_144699		160124943	1	no_errors	ENST00000368081	ensembl	human	known	70_37	missense	SNP	0.989	A	A	160124943	G	A	160124943	3	1	75	1	0	0	0	0	1	0	0	0	1132	1117	39	2	326	2	ATP1A4	1	160124943	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	8846245	160124943	89125678	6	11839										
DCAF6	55827	genome.wustl.edu	37	chr1	168007719	168007719	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	caataaaactgaactttacaGatgaatggtaagttaatatt	6	4	0	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:168007719G>A	ENST00000312263.6	+	11	1693	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	DCAF6_ENST00000367840.3_Missense_Mutation_p.D574N|DCAF6_ENST00000367843.3_Missense_Mutation_p.D517N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D543N	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	497					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAACTTTACAGATGAATGGTA	0.333																																																	0													83	81	82					1																	168007719		2203	4300	6503	SO:0001583	missense	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1489G>A	1.37:g.168007719G>A	ENSP00000311949:p.Asp497Asn		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.D574N	ENST00000312263.6	37	c.1720	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438872	0.83885	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.96	4.96	0.65561	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	L	0.36672	1.1	0.44024	D	0.996743	D;D;D;D	0.89917	0.993;0.999;1.0;1.0	P;D;D;D	0.91635	0.823;0.98;0.982;0.999	T	0.20273	-1.0280	9	0.49607	T	0.09	.	18.5734	0.91145	0.0:0.0:1.0:0.0	.	543;574;497;517	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	N	517;543;497;574	ENSP00000356817:D517N;ENSP00000396238:D543N;ENSP00000311949:D497N;ENSP00000356814:D574N	ENSP00000311949:D497N	D	+	1	0	DCAF6	166274343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.337000	0.79256	2.467000	0.83353	0.460000	0.39030	GAT	DCAF6	-	superfamily_WD40_repeat_dom		0.333	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	G	NM_018442		168007719	1	no_errors	ENST00000367840	ensembl	human	known	70_37	missense	SNP	1.000	A	A	168007719	G	A	168007719	3	1	75	1	0	0	0	0	1	0	0	0	4279	942	33	1	1595	1	DCAF6	1	168007719	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	7882776	168007719	81242902	7	11840										
IGFN1	91156	genome.wustl.edu	37	chr1	201177907	201177907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agaaagatttgggggctcctGagaatatgggttcggggagc	17	5	0	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:201177907G>A	ENST00000335211.4	+	12	4016	c.3886G>A	c.(3886-3888)Gag>Aag	p.E1296K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGGGCTCCTGAGAATATGGG	0.502																																																	0													35	32	33					1																	201177907		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3886G>A	1.37:g.201177907G>A	ENSP00000334714:p.Glu1296Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1296K	ENST00000335211.4	37	c.3886	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603525	0.46423	.	.	ENSG00000163395	ENST00000335211	D	0.87966	-2.32	2.22	2.22	0.28083	.	.	.	.	.	T	0.73783	0.3631	N	0.08118	0	0.21782	N	0.999545	.	.	.	.	.	.	T	0.61724	-0.7004	6	.	.	.	.	10.4864	0.44724	0.0:0.0:1.0:0.0	.	.	.	.	K	1296	ENSP00000334714:E1296K	.	E	+	1	0	IGFN1	199444530	0.004000	0.15560	0.002000	0.10522	0.051000	0.14879	0.923000	0.28757	1.161000	0.42604	0.491000	0.48974	GAG	IGFN1	-	NULL		0.502	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201177907	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.009	A	A	201177907	G	A	201177907	3	1	75	1	0	0	0	0	1	0	0	0	7610	1291	45	1	3928	1	IGFN1	1	201177907	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	33170188	201177907	48072714	8	11841										
IGFN1	91156	genome.wustl.edu	37	chr1	201178796	201178796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggatggtttaggaggttctgGagaaatggggtcagtgaatg	18	2	2	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:201178796G>A	ENST00000335211.4	+	12	4905	c.4775G>A	c.(4774-4776)gGa>gAa	p.G1592E	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGGTTCTGGAGAAATGGGG	0.488																																																	0													75	61	65					1																	201178796		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.4775G>A	1.37:g.201178796G>A	ENSP00000334714:p.Gly1592Glu		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1592E	ENST00000335211.4	37	c.4775	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	-	11.50	1.657962	0.29425	.	.	ENSG00000163395	ENST00000335211	D	0.95205	-3.64	2.91	-1.67	0.08238	.	.	.	.	.	D	0.83321	0.5229	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.73322	-0.4019	6	.	.	.	.	5.0501	0.14503	0.2992:0.1561:0.5446:0.0	.	.	.	.	E	1592	ENSP00000334714:G1592E	.	G	+	2	0	IGFN1	199445419	0.995000	0.38212	0.000000	0.03702	0.000000	0.00434	0.099000	0.15210	-0.138000	0.11434	-3.087000	0.00065	GGA	IGFN1	-	NULL		0.488	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201178796	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A	A	201178796	G	A	201178796	3	1	75	1	0	0	0	0	1	0	0	0	7610	1174	41	1	4817	1	IGFN1	1	201178796	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	889	201178796	48071825	9	11842										
LAD1	3898	genome.wustl.edu	37	chr1	201354847	201354847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acccgaaaggagatggtcctGgggctggagcgtttgaggga	18	7	0	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:201354847G>A	ENST00000391967.2	-	4	1414	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	LAD1_ENST00000367313.3_Silent_p.P385P|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	371						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGATGGTCCTGGGGCTGGAGC	0.597											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													211	187	195					1																	201354847		2203	4300	6503	SO:0001819	synonymous_variant	3898			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1113C>T	1.37:g.201354847G>A		2121	O95614|Q96GD8	Silent	SNP	pirsf_Ladinin_1	p.P385	ENST00000391967.2	37	c.1155	CCDS1410.1	1																																																																																			LAD1	-	pirsf_Ladinin_1		0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	HGNC	protein_coding	OTTHUMT00000086946.1	G	NM_005558		201354847	-1	no_errors	ENST00000367313	ensembl	human	known	70_37	silent	SNP	1.000	A	A	201354847	G	A	201354847	2	1	75	1	0	0	0	0	0	0	0	1	8619	1335	47	4		4	LAD1	1	201354847	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	176051	201354847	47895774	10	11843										
LIN9	286826	genome.wustl.edu	37	chr1	226465515	226465515	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aaccagaggcaaaggaatttCatctgggagatctttgaatt	10	6	3	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:226465515C>T	ENST00000328205.5	-	7	1236	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	LIN9_ENST00000366801.1_Missense_Mutation_p.E180K|LIN9_ENST00000481685.1_Missense_Mutation_p.E196K	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	215	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAAGGAATTTCATCTGGGAGA	0.343																																					Ovarian(197;1696 2974 11248 14117)												0													124	128	127					1																	226465515		2203	4300	6503	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.691G>A	1.37:g.226465515C>T	ENSP00000329102:p.Glu231Lys		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.E231K	ENST00000328205.5	37	c.691	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760235	0.89932	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	L	0.43646	1.37	0.80722	D	1	D;P;D	0.54964	0.961;0.875;0.969	P;P;P	0.57101	0.813;0.591;0.793	T	0.68104	-0.5497	9	0.44086	T	0.13	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	196;215;365	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	K	191;231;286;180;196;365	.	ENSP00000329102:E231K	E	-	1	0	LIN9	224532138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	GAA	LIN9	-	pfam_DIRP		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226465515	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	T	T	226465515	C	T	226465515	3	4	75	1	0	0	0	0	1	0	0	0	8834	835	29	1	1021	1	LIN9	1	226465515	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	25110668	226465515	22785106	11	11844										
OBSCN	84033	genome.wustl.edu	37	chr1	228554822	228554822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gctgagccacccgctggtcaCggggctgctggaccagtttg	15	13	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:228554822C>T	ENST00000422127.1	+	86	19618	c.19574C>T	c.(19573-19575)aCg>aTg	p.T6525M	OBSCN_ENST00000570156.2_Missense_Mutation_p.T7482M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T4159M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6525	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGCTGGTCACGGGGCTGCTG	0.642																																																	0													36	39	38					1																	228554822		2079	4202	6281	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19574C>T	1.37:g.228554822C>T	ENSP00000409493:p.Thr6525Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T6525M	ENST00000422127.1	37	c.19574	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854699	0.91355	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.39592	1.07;1.07	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.397800	0.04630	N	0.403404	T	0.47710	0.1460	N	0.05574	-0.02	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.36744	-0.9735	10	0.37606	T	0.19	.	12.5249	0.56081	0.0:0.9197:0.0:0.0802	.	6525	Q5VST9	OBSCN_HUMAN	M	6525;4159	ENSP00000409493:T6525M;ENSP00000355668:T4159M	ENSP00000355668:T4159M	T	+	2	0	OBSCN	226621445	0.992000	0.36948	0.788000	0.31933	0.924000	0.55760	3.064000	0.49986	2.508000	0.84585	0.591000	0.81541	ACG	OBSCN	-	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		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228554822	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.998	T	T	228554822	C	T	228554822	3	4	75	1	0	0	0	0	1	0	0	0	10836	536	19	2	21122	2	OBSCN	1	228554822	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	2089307	228554822	20695799	12	11845										
TFB2M	64216	genome.wustl.edu	37	chr1	246714575	246714575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acacttaatacatgatacaaGtctggatttccgggatctgc	8	9	2	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr1:246714575G>T	ENST00000366514.4	-	5	920	c.735C>A	c.(733-735)gaC>gaA	p.D245E	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	245					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CATGATACAAGTCTGGATTTC	0.313																																																	0													79	82	81					1																	246714575		2203	4300	6503	SO:0001583	missense	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.735C>A	1.37:g.246714575G>T	ENSP00000355471:p.Asp245Glu		Q9H626	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur	p.D245E	ENST00000366514.4	37	c.735	CCDS1627.1	1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868080	0.02590	.	.	ENSG00000162851	ENST00000366514	T	0.27890	1.64	5.19	-2.04	0.07343	.	2.244550	0.01628	N	0.023362	T	0.19886	0.0478	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.06734	-1.0810	10	0.08179	T	0.78	-0.0567	1.3858	0.02240	0.1637:0.2054:0.3484:0.2825	.	245	Q9H5Q4	TFB2M_HUMAN	E	245	ENSP00000355471:D245E	ENSP00000355471:D245E	D	-	3	2	TFB2M	244781198	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.093000	0.15086	-0.045000	0.13468	-0.226000	0.12346	GAC	TFB2M	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur		0.313	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB2M	HGNC	protein_coding	OTTHUMT00000096673.1	G	NM_022366		246714575	-1	no_errors	ENST00000366514	ensembl	human	known	70_37	missense	SNP	0.000	T	T	246714575	G	T	246714575	3	4	75	1	0	0	0	0	1	0	0	0	15824	1020	36	4	471	4	TFB2M	1	246714575	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	18159753	246714575	2536046	13	11846										
STARD7	56910	genome.wustl.edu	37	chr2	96852484	96852484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cctgtcaagcatactcaatcCgagcagggccacagctgccc	9	16	2	0	rs533954441		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:96852484C>A	ENST00000337288.5	-	8	1480	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	STARD7_ENST00000462501.1_5'Flank	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	366						mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATACTCAATCCGAGCAGGGCC	0.537																																																	0													76	71	72					2																	96852484		2203	4300	6503	SO:0001583	missense	56910			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.1097G>T	2.37:g.96852484C>A	ENSP00000338030:p.Arg366Leu		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.R366L	ENST00000337288.5	37	c.1097	CCDS2017.2	2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703077	0.48412	.	.	ENSG00000084090	ENST00000337288	T	0.50548	0.74	5.84	1.74	0.24563	.	0.273456	0.37348	N	0.002126	T	0.30978	0.0782	N	0.24115	0.695	0.27576	N	0.949726	B	0.27498	0.18	B	0.23275	0.045	T	0.14008	-1.0488	10	0.54805	T	0.06	-9.602	10.6208	0.45478	0.0:0.6257:0.0:0.3743	.	366	Q9NQZ5	STAR7_HUMAN	L	366	ENSP00000338030:R366L	ENSP00000338030:R366L	R	-	2	0	STARD7	96216211	0.976000	0.34144	0.445000	0.26908	0.857000	0.48899	1.679000	0.37597	-0.154000	0.11118	-0.797000	0.03246	CGG	STARD7	-	NULL		0.537	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD7	HGNC	protein_coding	OTTHUMT00000252848.2	C			96852484	-1	no_errors	ENST00000337288	ensembl	human	known	70_37	missense	SNP	0.762	A	A	96852484	C	A	96852484	3	1	75	1	0	0	0	0	1	0	0	0	15292	652	23	2	19	2	STARD7	2	96852484	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		96852484	146346889	14	11847										
REV1	51455	genome.wustl.edu	37	chr2	100058894	100058894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggactgcttggtgtacagctGatatggaatgtaggagagga	16	4	0	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:100058894G>C	ENST00000258428.3	-	5	616	c.388C>G	c.(388-390)Cag>Gag	p.Q130E	REV1_ENST00000393445.3_Missense_Mutation_p.Q130E|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	130	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTACAGCTGATATGGAATG	0.443								Direct reversal of damage																																									0													133	121	125					2																	100058894		2203	4300	6503	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.388C>G	2.37:g.100058894G>C	ENSP00000258428:p.Gln130Glu		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.Q130E	ENST00000258428.3	37	c.388	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978013	0.74360	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.10763	2.84;2.84	5.59	5.59	0.84812	BRCT (2);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	M	0.72894	2.215	0.80722	D	1	P;P;P	0.51653	0.947;0.548;0.528	P;B;P	0.55508	0.777;0.415;0.552	T	0.00290	-1.1843	10	0.39692	T	0.17	.	19.5763	0.95446	0.0:0.0:1.0:0.0	.	109;130;130	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	E	130	ENSP00000377091:Q130E;ENSP00000258428:Q130E	ENSP00000258428:Q130E	Q	-	1	0	REV1	99425326	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.678000	0.91211	2.646000	0.89796	0.655000	0.94253	CAG	REV1	-	superfamily_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom		0.443	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	G	NM_016316		100058894	-1	no_errors	ENST00000258428	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100058894	G	C	100058894	3	2	75	1	0	0	0	0	1	0	0	0	13269	1299	45	1	3443	1	REV1	2	100058894	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	3206410	100058894	143140479	15	11848										
NPAS2	4862	genome.wustl.edu	37	chr2	101554272	101554272	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gcagcatcatctatgtctctGacagtatcacgcctctcctt	6	14	5	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:101554272G>A	ENST00000335681.5	+	5	616	c.331G>A	c.(331-333)Gac>Aac	p.D111N	NPAS2_ENST00000542504.1_Missense_Mutation_p.D176N|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	111	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTATGTCTCTGACAGTATCAC	0.448																																																	0													258	223	235					2																	101554272		2203	4300	6503	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.331G>A	2.37:g.101554272G>A	ENSP00000338283:p.Asp111Asn		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS	p.D176N	ENST00000335681.5	37	c.526	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.571226	0.96553	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000451740	T;T;T	0.18174	2.23;2.23;2.23	5.93	5.93	0.95920	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.987;0.988	T	0.55205	-0.8177	10	0.87932	D	0	.	19.9457	0.97181	0.0:0.0:1.0:0.0	.	176;111	F5H027;Q99743	.;NPAS2_HUMAN	N	111;176;97	ENSP00000338283:D111N;ENSP00000438428:D176N;ENSP00000395265:D97N	ENSP00000338283:D111N	D	+	1	0	NPAS2	100920704	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	8.902000	0.92568	2.808000	0.96608	0.655000	0.94253	GAC	NPAS2	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.448	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	G			101554272	1	no_errors	ENST00000542504	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101554272	G	A	101554272	3	1	75	1	0	0	0	0	1	0	0	0	10587	1290	45	1	345	1	NPAS2	2	101554272	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	1495378	101554272	141645101	16	11849										
IWS1	55677	genome.wustl.edu	37	chr2	128263232	128263232	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cctgtgaagctcctcactttCagagtcactagcattaagat	7	11	3	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:128263232C>T	ENST00000295321.4	-	3	506	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.E90K	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	83	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTCACTTTCAGAGTCACTA	0.468																																																	0													164	166	166					2																	128263232		2203	4300	6503	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.247G>A	2.37:g.128263232C>T	ENSP00000295321:p.Glu83Lys		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.E83K	ENST00000295321.4	37	c.247	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550580	0.86127	.	.	ENSG00000163166	ENST00000295321;ENST00000455721;ENST00000409725	T;T	0.32272	1.46;1.47	5.22	5.22	0.72569	.	0.152919	0.44285	D	0.000469	T	0.41442	0.1159	L	0.61218	1.895	0.43018	D	0.99456	D	0.58268	0.982	P	0.51266	0.664	T	0.19844	-1.0293	10	0.15952	T	0.53	-13.8826	17.3245	0.87244	0.0:1.0:0.0:0.0	.	83	Q96ST2	IWS1_HUMAN	K	83;90;88	ENSP00000295321:E83K;ENSP00000399245:E90K	ENSP00000295321:E83K	E	-	1	0	IWS1	127979702	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.595000	0.67563	2.421000	0.82119	0.491000	0.48974	GAA	IWS1	-	NULL		0.468	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	C	NM_017969		128263232	-1	no_errors	ENST00000295321	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128263232	C	T	128263232	3	4	75	1	0	0	0	0	1	0	0	0	7951	835	29	1	2260	1	IWS1	2	128263232	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	26708960	128263232	114936141	17	11850										
CYTIP	9595	genome.wustl.edu	37	chr2	158300367	158300367	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tagcaatcatacctgctttcGtccccgaggcagagtagcca	9	13	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:158300367G>A	ENST00000264192.3	-	1	287	c.166C>T	c.(166-168)Cga>Tga	p.R56*	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron|AC019201.1_ENST00000401235.1_RNA	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	56					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ACCTGCTTTCGTCCCCGAGGC	0.448																																																	0													143	123	130					2																	158300367		2203	4300	6503	SO:0001587	stop_gained	9595			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.166C>T	2.37:g.158300367G>A	ENSP00000264192:p.Arg56*		B4DWH9|Q15630|Q8NE32	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R56*	ENST00000264192.3	37	c.166	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951051	0.73787	.	.	ENSG00000115165	ENST00000264192;ENST00000439355;ENST00000435117	.	.	.	5.72	-2.46	0.06461	.	0.105877	0.41396	D	0.000883	.	.	.	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5158	10.9116	0.47112	0.0:0.1909:0.2406:0.5684	.	.	.	.	X	56;21;21	.	ENSP00000264192:R56X	R	-	1	2	CYTIP	158008613	0.999000	0.42202	0.384000	0.26145	0.171000	0.22731	1.090000	0.30902	-0.963000	0.03600	-0.953000	0.02652	CGA	CYTIP	-	superfamily_PDZ		0.448	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	G	NM_004288		158300367	-1	no_errors	ENST00000264192	ensembl	human	known	70_37	nonsense	SNP	0.591	A	A	158300367	G	A	158300367	4	1	75	1	0	0	0	0	0	1	0	0	4212	1153	40	2	945	2	CYTIP	2	158300367	Nonsense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	30037135	158300367	84899006	18	11851										
SCN1A	6323	genome.wustl.edu	37	chr2	166896082	166896082	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aataattttcagaaacatttCtgctgtaaagatcccagtga	6	7	2	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:166896082C>T	ENST00000303395.4	-	14	2439	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E786K|SCN1A_ENST00000423058.2_Missense_Mutation_p.E814K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E803K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	814					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAACATTTCTGCTGTAAAG	0.333																																																	0													62	63	63					2																	166896082		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2440G>A	2.37:g.166896082C>T	ENSP00000303540:p.Glu814Lys		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.E814K	ENST00000303395.4	37	c.2440	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291792	0.80914	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	4.66	4.66	0.58398	Ion transport (1);	0.209904	0.33477	N	0.004862	D	0.99622	0.9862	H	0.99838	4.83	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.974	D;D;P	0.77004	0.981;0.989;0.897	D	0.97101	0.9797	10	0.87932	D	0	.	17.8943	0.88881	0.0:1.0:0.0:0.0	.	803;786;814	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	814;814;803;786	ENSP00000407030:E814K;ENSP00000303540:E814K;ENSP00000364554:E803K;ENSP00000386312:E786K	ENSP00000303540:E814K	E	-	1	0	SCN1A	166604328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.738000	0.84966	2.307000	0.77673	0.650000	0.86243	GAA	SCN1A	-	pfam_Ion_trans_dom		0.333	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	C	NM_006920		166896082	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	missense	SNP	1.000	T	T	166896082	C	T	166896082	3	4	75	1	0	0	0	0	1	0	0	0	13944	922	32	1	3641	1	SCN1A	2	166896082	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	8595715	166896082	76303291	19	11852										
MYO3B	140469	genome.wustl.edu	37	chr2	171070968	171070968	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gttggatgaagcaatgatctCatacatcttgtacggggccc	11	9	2	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:171070968C>T	ENST00000408978.4	+	4	544	c.401C>T	c.(400-402)tCa>tTa	p.S134L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.S143L|MYO3B_ENST00000409044.3_Missense_Mutation_p.S134L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAATGATCTCATACATCTTG	0.478																																																	0													95	91	92					2																	171070968		1949	4150	6099	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.401C>T	2.37:g.171070968C>T	ENSP00000386213:p.Ser134Leu		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.S143L	ENST00000408978.4	37	c.428	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416441	0.83449	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	L	0.29908	0.895	0.58432	D	0.999998	P;P;P;P	0.45768	0.696;0.866;0.835;0.866	B;P;B;P	0.46208	0.281;0.507;0.311;0.507	T	0.65504	-0.6152	10	0.87932	D	0	.	19.1959	0.93689	0.0:1.0:0.0:0.0	.	134;134;134;134	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	L	134;134;133;143;143	ENSP00000386497:S134L;ENSP00000386213:S134L;ENSP00000446237:S143L;ENSP00000335100:S143L	ENSP00000314213:S133L	S	+	2	0	MYO3B	170779214	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.412000	0.80091	2.549000	0.85964	0.650000	0.86243	TCA	MYO3B	-	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		0.478	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	C			171070968	1	no_errors	ENST00000334231	ensembl	human	known	70_37	missense	SNP	1.000	T	T	171070968	C	T	171070968	3	4	75	1	0	0	0	0	1	0	0	0	10100	838	29	1	415	1	MYO3B	2	171070968	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	4174886	171070968	72128405	20	11853										
TTN	7273	genome.wustl.edu	37	chr2	179454227	179454227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cttcattctttgtttgcactCtgaactcataaatctggttt	5	9	5	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr2:179454227C>T	ENST00000591111.1	-	254	57526	c.57302G>A	c.(57301-57303)aGa>aAa	p.R19101K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11802K|TTN_ENST00000460472.2_Missense_Mutation_p.R11677K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11869K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20742K|TTN_ENST00000342992.6_Missense_Mutation_p.R18174K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19101	Fibronectin type-III 38. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTGCACTCTGAACTCATA	0.398																																																	0													76	76	76					2																	179454227		1893	4122	6015	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57302G>A	2.37:g.179454227C>T	ENSP00000465570:p.Arg19101Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R18174K	ENST00000591111.1	37	c.54521		2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719058	0.48622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71417	0.3337	M	0.73372	2.23	0.58432	D	0.999998	P;P;P;P	0.51791	0.948;0.948;0.948;0.948	P;P;P;P	0.52481	0.7;0.7;0.7;0.7	T	0.72551	-0.4259	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	11677;11802;11869;19101	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18174;11677;11869;11802;11675	ENSP00000343764:R18174K;ENSP00000434586:R11677K;ENSP00000340554:R11869K;ENSP00000352154:R11802K	ENSP00000340554:R11869K	R	-	2	0	TTN	179162473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.011000	0.70760	2.937000	0.99478	0.650000	0.86243	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179454227	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179454227	C	T	179454227	3	4	75	1	0	0	0	0	1	0	0	0	16766	913	32	1	45990	1	TTN	2	179454227	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	8383259	179454227	63745146	21	11854										
CPNE4	131034	genome.wustl.edu	37	chr3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gatgactcttacctcagttcGgtgcaccagctgctgagttg	11	11	2	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr3:131404727G>A	ENST00000512055.1	-	10	2709	c.583C>T	c.(583-585)Cga>Tga	p.R195*	CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*			Q96A23	CPNE4_HUMAN	copine IV	195	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCTCAGTTCGGTGCACCAGC	0.378																																																	0													83	77	79					3																	131404727		2203	4300	6503	SO:0001587	stop_gained	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.583C>T	3.37:g.131404727G>A	ENSP00000421705:p.Arg195*		D3DNC5|Q8TEX1	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.R213*	ENST00000512055.1	37	c.637	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.684566	0.98431	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	.	.	.	5.81	3.7	0.42460	.	0.099589	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5814	13.5274	0.61603	0.0:0.0:0.5128:0.4872	.	.	.	.	X	195;195;213;195;213	.	ENSP00000411904:R195X	R	-	1	2	CPNE4	132887417	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.939000	0.48995	1.300000	0.44818	0.638000	0.83543	CGA	CPNE4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.378	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	G	NM_130808		131404727	-1	no_errors	ENST00000502818	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	131404727	G	A	131404727	4	1	75	1	0	0	0	0	0	1	0	0	3819	1124	39	2	1134	2	CPNE4	3	131404727	Nonsense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		131404727	66617703	22	11855										
SLIT2	9353	genome.wustl.edu	37	chr4	20569140	20569140	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tacttgccccttcttctccaGgggcaggactgtgatgtccc	10	14	2	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr4:20569140G>A	ENST00000504154.1	+	28	3102		c.e28-1		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTTCTCCAGGGGCAGGACT	0.443																																																	0													117	108	111					4																	20569140		2203	4299	6502	SO:0001630	splice_region_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2851-1G>A	4.37:g.20569140G>A			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	-	e28-1	ENST00000504154.1	37	c.2851-1	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377166	0.82682	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508;ENST00000509941	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.259	0.98436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20178238	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.869000	0.99810	2.793000	0.96121	0.644000	0.83932	.	SLIT2	-	-		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	G		Intron	20569140	1	no_errors	ENST00000504154	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	20569140	G	A	20569140	5	1	75	1	0	0	0	0	0	0	1	0	14770	1014	35	4	2960	4	SLIT2	4	20569140	Splice_Site	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		20569140	170585136	23	11856										
PCDH7	5099	genome.wustl.edu	37	chr4	30723058	30723058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggagaagatgctgaggatgcGgaccgcgggatgggcgcgcg	21	8	0	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr4:30723058G>A	ENST00000361762.2	+	1	1022	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.R5Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	5					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGAGGATGCGGACCGCGGGA	0.731																																																	0													5	7	7					4																	30723058		2104	4141	6245	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.14G>A	4.37:g.30723058G>A	ENSP00000355243:p.Arg5Gln		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R5Q	ENST00000361762.2	37	c.14	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546433	0.65198	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.52057	0.72;0.68	5.17	5.17	0.71159	.	.	.	.	.	T	0.31482	0.0798	N	0.08118	0	0.41286	D	0.986944	P;P;P	0.51933	0.927;0.927;0.949	B;B;B	0.41174	0.349;0.349;0.19	T	0.27773	-1.0064	9	0.40728	T	0.16	.	18.2655	0.90051	0.0:0.0:1.0:0.0	.	5;5;5	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	Q	5	ENSP00000355243:R5Q;ENSP00000441802:R5Q	ENSP00000330302:R5Q	R	+	2	0	PCDH7	30332156	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.389000	0.59639	2.415000	0.81967	0.455000	0.32223	CGG	PCDH7	-	NULL		0.731	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	G	NM_032457, NM_002589		30723058	1	no_errors	ENST00000543491	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30723058	G	A	30723058	3	1	75	1	0	0	0	0	1	0	0	0	11540	1116	39	2	16	2	PCDH7	4	30723058	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	10153918	30723058	160431218	24	11857										
PCDH7	5099	genome.wustl.edu	37	chr4	30725352	30725352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tagctacagtgttggcaacaGacagtgatgatggcatcaat	11	7	1	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr4:30725352G>A	ENST00000361762.2	+	1	3316	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D770N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	770	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTTGGCAACAGACAGTGATGA	0.453																																																	0													65	61	63					4																	30725352		2203	4300	6503	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2308G>A	4.37:g.30725352G>A	ENSP00000355243:p.Asp770Asn		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D770N	ENST00000361762.2	37	c.2308	CCDS33971.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.085768|4.085768	0.76642|0.76642	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.61627|.	0.09;0.09|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.91717|0.91717	0.7381|0.7381	H|H	0.99391|0.99391	4.545|4.545	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	D|D	0.95178|0.95178	0.8296|0.8296	9|5	0.87932|.	D|.	0|.	.|.	18.8391|18.8391	0.92174|0.92174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	770;723;770|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	N|K	770;770;723|459	ENSP00000355243:D770N;ENSP00000441802:D770N|.	ENSP00000330302:D723N|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30334450|30334450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.657000|9.657000	0.98554|0.98554	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAC|AGA	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	G	NM_032457, NM_002589		30725352	1	no_errors	ENST00000543491	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30725352	G	A	30725352	3	1	75	1	0	0	0	0	1	0	0	0	11540	942	33	1	2310	1	PCDH7	4	30725352	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	2294	30725352	160428924	25	11858										
UGT2B15	7367	genome.wustl.edu	37	chr4	69426371	69426371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	attttctccagagctctgcaCaaactcttccatttcctgtg	5	13	3	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr4:69426371C>T	ENST00000317746.2	-	3	931	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	297					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	GAGCTCTGCACAAACTCTTCC	0.408																																					Melanoma(18;649 833 28984 37818 38500)												0													14	26	22					4																	69426371		1843	3809	5652	SO:0001583	missense	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.889G>A	4.37:g.69426371C>T	ENSP00000320401:p.Val297Met			Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V297M	ENST00000317746.2	37	c.889	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665450	0.47677	.	.	ENSG00000197888	ENST00000317746	T	0.62105	0.05	2.41	1.52	0.23074	.	0.181371	0.35235	U	0.003354	T	0.61413	0.2345	L	0.58969	1.84	0.22435	N	0.999104	.	.	.	.	.	.	T	0.56263	-0.8008	8	0.87932	D	0	.	7.4123	0.27023	0.0:0.8529:0.0:0.1471	.	.	.	.	M	297	ENSP00000320401:V297M	ENSP00000320401:V297M	V	-	1	0	UGT2B17	69108966	0.956000	0.32656	0.752000	0.31206	0.911000	0.54048	2.600000	0.46240	0.316000	0.23135	0.400000	0.26472	GTG	UGT2B17	-	pfam_UDP_glucos_trans		0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	C	NM_001077		69426371	-1	no_errors	ENST00000317746	ensembl	human	known	70_37	missense	SNP	0.998	T	T	69426371	C	T	69426371	3	4	75	1	0	0	0	0	1	0	0	0	16989	478	17	4	719	4	UGT2B15	4	69426371	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	38701019	69426371	121727905	26	11859										
DCHS2	54798	genome.wustl.edu	37	chr4	155225868	155225868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tattgccagcatccatatcaGaggctaaaaccgtatagaca	7	10	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr4:155225868G>A	ENST00000357232.4	-	17	4192	c.4193C>T	c.(4192-4194)tCt>tTt	p.S1398F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1398	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCATATCAGAGGCTAAAAC	0.373																																																	0													86	82	83					4																	155225868		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4193C>T	4.37:g.155225868G>A	ENSP00000349768:p.Ser1398Phe		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1398F	ENST00000357232.4	37	c.4193	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	2.281	-0.364722	0.05103	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.39	-0.117	0.13551	Cadherin (4);Cadherin-like (1);	0.577601	0.16124	N	0.228482	T	0.27063	0.0663	L	0.35341	1.055	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.18840	-1.0324	10	0.10111	T	0.7	.	4.7021	0.12832	0.3177:0.0:0.4346:0.2477	.	1398	Q6V1P9	PCD23_HUMAN	F	1398	ENSP00000349768:S1398F	ENSP00000349768:S1398F	S	-	2	0	DCHS2	155445318	0.000000	0.05858	0.947000	0.38551	0.521000	0.34408	-0.150000	0.10189	0.234000	0.21139	-0.311000	0.09066	TCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155225868	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.000	A	A	155225868	G	A	155225868	3	1	75	1	0	0	0	0	1	0	0	0	4293	942	33	1	4593	1	DCHS2	4	155225868	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	85799497	155225868	35928408	27	11860										
NEK1	4750	genome.wustl.edu	37	chr4	170428890	170428890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agtgattcgatttttttgcgCctcatgtcagcctcttcact	7	11	4	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr4:170428890C>T	ENST00000439128.2	-	20	2443	c.1803G>A	c.(1801-1803)agG>agA	p.R601R	NEK1_ENST00000512193.1_Silent_p.R532R|NEK1_ENST00000507142.1_Silent_p.R629R|NEK1_ENST00000510533.1_Silent_p.R557R|NEK1_ENST00000511633.1_Silent_p.R585R	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	601					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTTTTTGCGCCTCATGTCAG	0.338																																																	0													129	118	121					4																	170428890		1840	4090	5930	SO:0001819	synonymous_variant	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1803G>A	4.37:g.170428890C>T			G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R629	ENST00000439128.2	37	c.1887	CCDS47162.1	4																																																																																			NEK1	-	NULL		0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	C			170428890	-1	no_errors	ENST00000507142	ensembl	human	known	70_37	silent	SNP	0.969	T	T	170428890	C	T	170428890	2	4	75	1	0	0	0	0	0	0	0	1	10345	738	26	4		4	NEK1	4	170428890	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	15203022	170428890	20725386	28	11861										
SEMA5A	9037	genome.wustl.edu	37	chr5	9202081	9202081	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acatacacattggtggtaaaGatgccatagatcaaatccag	8	8	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr5:9202081G>C	ENST00000382496.5	-	9	1583	c.918C>G	c.(916-918)atC>atG	p.I306M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	306	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGGTGGTAAAGATGCCATAGA	0.423																																																	0													61	61	61					5																	9202081		2203	4300	6503	SO:0001583	missense	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.918C>G	5.37:g.9202081G>C	ENSP00000371936:p.Ile306Met		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.I306M	ENST00000382496.5	37	c.918	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036686	0.54896	.	.	ENSG00000112902	ENST00000382496	T	0.13420	2.59	5.84	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	M	0.77406	2.37	0.48632	D	0.999687	P	0.40731	0.728	P	0.45037	0.467	T	0.05037	-1.0910	10	0.87932	D	0	.	12.0423	0.53460	0.0:0.1236:0.735:0.1413	.	306	Q13591	SEM5A_HUMAN	M	306	ENSP00000371936:I306M	ENSP00000371936:I306M	I	-	3	3	SEMA5A	9255081	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.334000	0.33827	1.448000	0.47680	0.655000	0.94253	ATC	SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.423	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	G			9202081	-1	no_errors	ENST00000382496	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9202081	G	C	9202081	3	2	75	1	0	0	0	0	1	0	0	0	14067	932	33	1	2366	1	SEMA5A	5	9202081	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		9202081	171713179	29	11862										
GRIA1	2890	genome.wustl.edu	37	chr5	153190775	153190775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agggatgcccttgggagccaCgggattgtaactggagcaga	16	8	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr5:153190775C>T	ENST00000285900.5	+	16	3054	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M	GRIA1_ENST00000518783.1_Missense_Mutation_p.T914M|GRIA1_ENST00000448073.4_Missense_Mutation_p.T914M|GRIA1_ENST00000340592.5_Missense_Mutation_p.T904M|GRIA1_ENST00000518142.1_Missense_Mutation_p.T824M|GRIA1_ENST00000521843.2_Missense_Mutation_p.T835M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	904					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGGGAGCCACGGGATTGTAA	0.562																																																	0													42	39	40					5																	153190775		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2711C>T	5.37:g.153190775C>T	ENSP00000285900:p.Thr904Met		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T914M	ENST00000285900.5	37	c.2741	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460395	0.84317	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.13307	2.65;2.6;2.65;2.6;2.6;2.64;2.64	5.03	5.03	0.67393	.	0.368545	0.31734	N	0.007149	T	0.33030	0.0849	L	0.55481	1.735	0.53688	D	0.99997	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	P;P;P;D;D	0.67725	0.826;0.826;0.791;0.916;0.953	T	0.03852	-1.0998	10	0.87932	D	0	.	17.3487	0.87316	0.0:1.0:0.0:0.0	.	914;914;824;904;904	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	904;904;824;904;837;835;914;914	ENSP00000285900:T904M;ENSP00000427920:T824M;ENSP00000339343:T904M;ENSP00000427864:T837M;ENSP00000442108:T835M;ENSP00000428994:T914M;ENSP00000415569:T914M	ENSP00000285900:T904M	T	+	2	0	GRIA1	153170968	1.000000	0.71417	0.942000	0.38095	0.936000	0.57629	7.307000	0.78920	2.330000	0.79161	0.561000	0.74099	ACG	GRIA1	-	NULL		0.562	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	C			153190775	1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153190775	C	T	153190775	3	4	75	1	0	0	0	0	1	0	0	0	6787	536	19	2	2892	2	GRIA1	5	153190775	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	143988694	153190775	27724485	30	11863										
ODZ2	57451	genome.wustl.edu	37	chr5	167630771	167630771	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cagccctccttcagggattcGagctggacccctccaacctc	8	18	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr5:167630771G>C	ENST00000518659.1	+	18	3547	c.3508G>C	c.(3508-3510)Gag>Cag	p.E1170Q	TENM2_ENST00000520394.1_Missense_Mutation_p.E938Q|TENM2_ENST00000519204.1_Missense_Mutation_p.E1049Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1170Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E994Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1170					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TCAGGGATTCGAGCTGGACCC	0.502																																																	0													145	138	140					5																	167630771		1884	4103	5987	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3508G>C	5.37:g.167630771G>C	ENSP00000429430:p.Glu1170Gln		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1170Q	ENST00000518659.1	37	c.3508		5	.	.	.	.	.	.	.	.	.	.	g	27.8	4.862929	0.91511	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90197	-2.18;-2.15;-2.29;-2.6;-2.63	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	M	0.86178	2.8	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.992	D	0.96319	0.9235	10	0.72032	D	0.01	.	18.809	0.92050	0.0:0.0:1.0:0.0	.	1170;1170;938	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1170;1170;1049;938;994	ENSP00000429430:E1170Q;ENSP00000438635:E1170Q;ENSP00000428964:E1049Q;ENSP00000427874:E938Q;ENSP00000384905:E994Q	ENSP00000384905:E994Q	E	+	1	0	ODZ2	167563349	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	9.810000	0.99221	2.499000	0.84300	0.645000	0.84053	GAG	TENM2	-	superfamily_ConA-like_lec_gl_sf		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167630771	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	C	C	167630771	G	C	167630771	3	2	75	1	0	0	0	0	1	0	0	0	10859	1059	37	1	3551	1	ODZ2	5	167630771	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	14439996	167630771	13284489	31	11864										
MSH5	4439	genome.wustl.edu	37	chr6	31729633	31729633	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gatggcaacgatcttgtcttCttctatcaggtttgcgaagg	11	8	5	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr6:31729633C>T	ENST00000375755.3	+	23	2506	c.2220C>T	c.(2218-2220)ttC>ttT	p.F740F	SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375750.3_Silent_p.F740F|MSH5_ENST00000395853.1_Silent_p.F414F|MSH5_ENST00000375740.3_Silent_p.F758F|MSH5_ENST00000375703.3_Silent_p.F741F|SAPCD1_ENST00000415669.2_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Silent_p.F757F|MSH5_ENST00000375742.3_Silent_p.F757F|MSH5_ENST00000431848.2_Silent_p.F439F|MSH5_ENST00000534153.4_Silent_p.F757F|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1-AS1_ENST00000419679.1_RNA	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	740					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.F126L(1)|p.F741L(1)|p.F757L(1)		breast(1)|ovary(2)|skin(2)	5						ATCTTGTCTTCTTCTATCAGG	0.522								Direct reversal of damage;Mismatch excision repair (MMR)																																									3	Substitution - Missense(3)	lung(3)											186	198	193					6																	31729633		1510	2709	4219	SO:0001819	synonymous_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2220C>T	6.37:g.31729633C>T			B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.F757	ENST00000375755.3	37	c.2271	CCDS4720.1	6																																																																																			MSH5	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C		0.522	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	C			31729633	1	no_errors	ENST00000375742	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31729633	C	T	31729633	2	4	75	1	0	0	0	0	0	0	0	1	9896	912	32	1		1	MSH5	6	31729633	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		31729633	139385434	32	11865										
FTSJ2	29960	genome.wustl.edu	37	chr7	2279272	2279272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	caggtgctcagcgcctgtccGattcttgcagcgactcccaa	10	15	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr7:2279272G>A	ENST00000242257.8	-	2	107	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	FTSJ2_ENST00000440306.2_Missense_Mutation_p.R27W|NUDT1_ENST00000397049.1_5'Flank|NUDT1_ENST00000397046.1_5'Flank|FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000356714.1_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)											endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GCGCCTGTCCGATTCTTGCAG	0.567																																																	0													103	101	102					7																	2279272		2203	4300	6503	SO:0001583	missense	29960			AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"rRNA (uridine-2'-O-)-methyltransferase", "MRM2 RNA methyltransferase homolog (S. cerevisiae)"	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.79C>T	7.37:g.2279272G>A	ENSP00000242257:p.Arg27Trp			Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.R27W	ENST00000242257.8	37	c.79	CCDS5328.1	7	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410770	0.62399	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.48201	0.82;1.33	5.96	2.88	0.33553	.	0.400943	0.24815	N	0.035378	T	0.69904	0.3163	M	0.92367	3.3	0.20307	N	0.999911	D	0.76494	0.999	D	0.63793	0.918	T	0.62909	-0.6754	10	0.87932	D	0	3.3139	8.9775	0.35944	0.0775:0.0:0.5718:0.3507	.	27	Q9UI43	RRMJ2_HUMAN	W	27	ENSP00000242257:R27W;ENSP00000392343:R27W	ENSP00000242257:R27W	R	-	1	2	FTSJ2	2245798	0.997000	0.39634	0.022000	0.16811	0.231000	0.25187	2.568000	0.45965	0.825000	0.34637	0.655000	0.94253	CGG	FTSJ2	-	pirsf_rRNA-MeTfrase_E		0.567	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000060187.1	G	NM_013393		2279272	-1	no_errors	ENST00000242257	ensembl	human	known	70_37	missense	SNP	0.125	A	A	2279272	G	A	2279272	3	1	75	1	0	0	0	0	1	0	0	0	6106	1057	37	1	669	1	FTSJ2	7	2279272	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		2279272	156859391	33	11866										
ITGB8	3696	genome.wustl.edu	37	chr7	20406693	20406693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tattgtttccaatttaataaGcaaaggctgctcagttgatt	7	6	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr7:20406693G>T	ENST00000222573.4	+	3	956	c.272G>T	c.(271-273)aGc>aTc	p.S91I	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	91					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTTAATAAGCAAAGGCTGC	0.343																																																	0													134	134	134					7																	20406693		2203	4300	6503	SO:0001583	missense	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.272G>T	7.37:g.20406693G>T	ENSP00000222573:p.Ser91Ile		A4D133|B4DHD4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.S91I	ENST00000222573.4	37	c.272	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311320	0.40895	.	.	ENSG00000105855	ENST00000222573	D	0.92805	-3.11	5.82	4.93	0.64822	Integrin beta subunit, N-terminal (2);	0.418234	0.27473	N	0.019207	D	0.87752	0.6256	L	0.51914	1.62	0.80722	D	1	B;B	0.25169	0.119;0.096	B;B	0.28465	0.075;0.09	T	0.83255	-0.0051	10	0.45353	T	0.12	-5.2341	4.7209	0.12917	0.2248:0.1757:0.5995:0.0	.	91;91	P26012;Q9BUG9	ITB8_HUMAN;.	I	91	ENSP00000222573:S91I	ENSP00000222573:S91I	S	+	2	0	ITGB8	20373218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.551000	0.36233	1.430000	0.47334	0.655000	0.94253	AGC	ITGB8	-	pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu		0.343	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	G	NM_002214		20406693	1	no_errors	ENST00000222573	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20406693	G	T	20406693	3	4	75	1	0	0	0	0	1	0	0	0	7921	971	34	4	282	4	ITGB8	7	20406693	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	18127421	20406693	138731970	34	11867										
INHBA	3624	genome.wustl.edu	37	chr7	41729911	41729911	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gcgtctactactttttcagaGagcaacagttcactcctctc	6	13	4	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr7:41729911G>C	ENST00000242208.4	-	3	864	c.618C>G	c.(616-618)ctC>ctG	p.L206L	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.L206L|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	206					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTTTTTCAGAGAGCAACAGTT	0.597										TSP Lung(11;0.080)																																							0													77	70	72					7																	41729911		2203	4300	6503	SO:0001819	synonymous_variant	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.618C>G	7.37:g.41729911G>C			Q14599	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.L206	ENST00000242208.4	37	c.618	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N		0.597	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	G			41729911	-1	no_errors	ENST00000242208	ensembl	human	known	70_37	silent	SNP	0.078	C	C	41729911	G	C	41729911	2	2	75	1	0	0	0	0	0	0	0	1	7761	929	33	1		1	INHBA	7	41729911	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	21323218	41729911	117408752	35	11868										
PCLO	27445	genome.wustl.edu	37	chr7	82764745	82764745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ccatgaagggttggttgtttCactagtggtggtggcttttt	14	5	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr7:82764745C>T	ENST00000333891.9	-	3	2458	c.2121G>A	c.(2119-2121)gtG>gtA	p.V707V	PCLO_ENST00000423517.2_Silent_p.V707V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V707V(2)|p.V653V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGTTGTTTCACTAGTGGTG	0.542																																																	3	Substitution - coding silent(3)	lung(3)											180	179	179					7																	82764745		2003	4168	6171	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2121G>A	7.37:g.82764745C>T				Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.V707	ENST00000333891.9	37	c.2121	CCDS47630.1	7																																																																																			PCLO	-	NULL		0.542	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82764745	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	silent	SNP	0.917	T	T	82764745	C	T	82764745	2	4	75	1	0	0	0	0	0	0	0	1	11607	813	29	1		1	PCLO	7	82764745	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	41034834	82764745	76373918	36	11869										
TMEM209	84928	genome.wustl.edu	37	chr7	129815407	129815407	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gtcctttgaagtcgccacctCtgttccatcgaaatgagctc	8	13	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr7:129815407C>T	ENST00000397622.2	-	11	1411	c.1289G>A	c.(1288-1290)aGa>aAa	p.R430K	TMEM209_ENST00000336804.8_Missense_Mutation_p.R387K|TMEM209_ENST00000462753.1_Missense_Mutation_p.R429K|TMEM209_ENST00000473456.1_Missense_Mutation_p.R388K|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	430						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTCGCCACCTCTGTTCCATCG	0.393																																																	0													58	59	59					7																	129815407		2102	4243	6345	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1289G>A	7.37:g.129815407C>T	ENSP00000380747:p.Arg430Lys		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.R430K	ENST00000397622.2	37	c.1289	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050732	0.36181	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.52	4.64	0.57946	.	0.306080	0.36374	N	0.002622	T	0.17704	0.0425	N	0.24115	0.695	0.32454	N	0.544995	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.21075	-1.0256	10	0.11182	T	0.66	-21.3419	9.1301	0.36839	0.0:0.7761:0.1464:0.0775	.	388;430	Q96SK2-3;Q96SK2	.;TM209_HUMAN	K	430;429;388;387	ENSP00000380747:R430K;ENSP00000419697:R429K;ENSP00000417258:R388K;ENSP00000338388:R387K	ENSP00000338388:R387K	R	-	2	0	TMEM209	129602643	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.330000	0.65899	1.339000	0.45563	0.591000	0.81541	AGA	TMEM209	-	pfam_Cytochrome_B561-rel		0.393	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	C	NM_032842		129815407	-1	no_errors	ENST00000397622	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129815407	C	T	129815407	3	4	75	1	0	0	0	0	1	0	0	0	16164	913	32	1	416	1	TMEM209	7	129815407	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	47050662	129815407	29323256	37	11870										
DUSP26	78986	genome.wustl.edu	37	chr8	33449681	33449681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agcatgaggtaggccagtacCagggtggcggatcggctcac	16	10	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr8:33449681C>T	ENST00000256261.4	-	4	1003	c.486G>A	c.(484-486)ctG>ctA	p.L162L	DUSP26_ENST00000523956.1_Silent_p.L162L	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	162	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGGCCAGTACCAGGGTGGCGG	0.577																																																	0													103	79	87					8																	33449681		2203	4300	6503	SO:0001819	synonymous_variant	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.486G>A	8.37:g.33449681C>T			D3DSV8|Q9BTW0	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.L162	ENST00000256261.4	37	c.486	CCDS6092.1	8																																																																																			DUSP26	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.577	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	C	NM_024025		33449681	-1	no_errors	ENST00000256261	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33449681	C	T	33449681	2	4	75	1	0	0	0	0	0	0	0	1	4833	581	21	4		4	DUSP26	8	33449681	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		33449681	112914341	38	11871										
TRIM55	84675	genome.wustl.edu	37	chr8	67062588	67062588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ttgttgcagaatctcggaagCatcaaaggcatttcagatgg	11	7	3	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr8:67062588C>T	ENST00000315962.4	+	7	1245	c.872C>T	c.(871-873)gCa>gTa	p.A291V	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.A291V|TRIM55_ENST00000353317.5_Missense_Mutation_p.A291V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	291	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATCTCGGAAGCATCAAAGGCA	0.358																																																	0													102	101	101					8																	67062588		2203	4300	6503	SO:0001583	missense	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.872C>T	8.37:g.67062588C>T	ENSP00000323913:p.Ala291Val		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A291V	ENST00000315962.4	37	c.872	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	.	23.5	4.423382	0.83559	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.34072	1.38;1.44;1.39	5.84	5.84	0.93424	COS domain (1);	0.094738	0.64402	D	0.000001	T	0.59865	0.2225	M	0.75615	2.305	0.80722	D	1	P;P;D	0.54772	0.938;0.892;0.968	P;P;P	0.59056	0.851;0.642;0.851	T	0.60831	-0.7185	10	0.66056	D	0.02	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	291;291;291	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	V	291	ENSP00000323913:A291V;ENSP00000297348:A291V;ENSP00000276573:A291V	ENSP00000276573:A291V	A	+	2	0	TRIM55	67225142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.778000	0.62368	2.764000	0.94973	0.650000	0.86243	GCA	TRIM55	-	NULL		0.358	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	C	NM_184085		67062588	1	no_errors	ENST00000315962	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67062588	C	T	67062588	3	4	75	1	0	0	0	0	1	0	0	0	16560	710	25	4	898	4	TRIM55	8	67062588	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	33612907	67062588	79301434	39	11872										
PREX2	80243	genome.wustl.edu	37	chr8	69069589	69069589	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tggaaggatattattacagaGacaatgtttctgtggaagaa	11	3	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr8:69069589G>T	ENST00000288368.4	+	35	4541	c.4264G>T	c.(4264-4266)Gac>Tac	p.D1422Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1422					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTATTACAGAGACAATGTTTC	0.358																																																	0													112	113	113					8																	69069589		2203	4300	6503	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4264G>T	8.37:g.69069589G>T	ENSP00000288368:p.Asp1422Tyr		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D1422Y	ENST00000288368.4	37	c.4264	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721534	0.89298	.	.	ENSG00000046889	ENST00000288368	T	0.47869	0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	L	0.42245	1.32	0.80722	D	1	D	0.55605	0.972	P	0.52710	0.707	T	0.57717	-0.7763	10	0.72032	D	0.01	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	1422	Q70Z35	PREX2_HUMAN	Y	1422	ENSP00000288368:D1422Y	ENSP00000288368:D1422Y	D	+	1	0	PREX2	69232143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.429000	0.97481	2.683000	0.91414	0.650000	0.86243	GAC	PREX2	-	NULL		0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	G	NM_025170		69069589	1	no_errors	ENST00000288368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69069589	G	T	69069589	3	4	75	1	0	0	0	0	1	0	0	0	12504	942	33	3	4631	3	PREX2	8	69069589	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	2007001	69069589	77294433	40	11873										
RIMS2	9699	genome.wustl.edu	37	chr8	105260960	105260960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ctggtgttcgcttggcctctGatagccagttcagtgatttc	11	10	2	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr8:105260960G>A	ENST00000436393.2	+	25	3803	c.3562G>A	c.(3562-3564)Gat>Aat	p.D1188N	RIMS2_ENST00000262231.10_Missense_Mutation_p.D1009N|RIMS2_ENST00000339750.2_Missense_Mutation_p.D106N|RIMS2_ENST00000507740.1_Missense_Mutation_p.D984N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1170N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1232					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGCCTCTGATAGCCAGTT	0.463										HNSCC(12;0.0054)																																							0													113	112	112					8																	105260960		2133	4270	6403	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3562G>A	8.37:g.105260960G>A	ENSP00000390665:p.Asp1188Asn		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.D1170N	ENST00000436393.2	37	c.3508		8	.	.	.	.	.	.	.	.	.	.	G	35	5.470890	0.96274	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.24723	2.57;2.27;2.32;1.84;2.52;2.13;2.11	5.34	5.34	0.76211	.	.	.	.	.	T	0.47857	0.1468	L	0.56199	1.76	0.80722	D	1	D;P;P;P;P	0.61697	0.99;0.877;0.954;0.557;0.557	P;B;D;B;B	0.67900	0.903;0.411;0.954;0.295;0.295	T	0.38929	-0.9638	9	0.59425	D	0.04	.	19.4079	0.94655	0.0:0.0:1.0:0.0	.	1232;1188;1009;984;1170	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	N	1207;1170;1232;1009;984;1177;1188;106;106	ENSP00000384892:D1170N;ENSP00000262231:D1009N;ENSP00000423559:D984N;ENSP00000386228:D1177N;ENSP00000390665:D1188N;ENSP00000428478:D106N;ENSP00000342051:D106N	ENSP00000262231:D1009N	D	+	1	0	RIMS2	105330136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.664000	0.90586	0.650000	0.86243	GAT	RIMS2	-	NULL		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	G	NM_001100117		105260960	1	no_errors	ENST00000406091	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105260960	G	A	105260960	3	1	75	1	0	0	0	0	1	0	0	0	13398	1290	45	1	3786	1	RIMS2	8	105260960	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	36191371	105260960	41103062	41	11874										
TTC35	9694	genome.wustl.edu	37	chr8	109498775	109498775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	taagaaggaaaccaaatattCtcttaaggctgtcgaagaca	8	7	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr8:109498775C>T	ENST00000220853.3	+	11	877	c.842C>T	c.(841-843)tCt>tTt	p.S281F	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	281						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ACCAAATATTCTCTTAAGGCT	0.338																																																	0													76	75	76					8																	109498775		2203	4300	6503	SO:0001583	missense	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.842C>T	8.37:g.109498775C>T	ENSP00000220853:p.Ser281Phe		Q8WUE1	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S281F	ENST00000220853.3	37	c.842	CCDS6309.1	8	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623958	0.87560	.	.	ENSG00000104412	ENST00000220853	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.60455	1.87	0.80722	D	1	D	0.56521	0.976	P	0.50708	0.648	T	0.70839	-0.4763	9	0.54805	T	0.06	-8.1432	20.3748	0.98911	0.0:1.0:0.0:0.0	.	281	Q15006	TTC35_HUMAN	F	281	.	ENSP00000220853:S281F	S	+	2	0	TTC35	109567951	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.760000	0.74939	2.817000	0.96982	0.563000	0.77884	TCT	EMC2	-	NULL		0.338	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	HGNC	protein_coding	OTTHUMT00000380717.1	C	NM_014673		109498775	1	no_errors	ENST00000220853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109498775	C	T	109498775	3	4	75	1	0	0	0	0	1	0	0	0	16734	913	32	1	884	1	TTC35	8	109498775	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	4237815	109498775	36865247	42	11875										
GLIS3	169792	genome.wustl.edu	37	chr9	3932409	3932409	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aatgtgccttcacatgctttCttagggaacttgggtctgtg	11	8	3	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:3932409C>T	ENST00000324333.10	-	5	1662	c.1469G>A	c.(1468-1470)aGa>aAa	p.R490K	GLIS3_ENST00000381971.3_Missense_Mutation_p.R645K|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	490					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CACATGCTTTCTTAGGGAACT	0.378																																																	0													219	212	214					9																	3932409		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1469G>A	9.37:g.3932409C>T	ENSP00000325494:p.Arg490Lys		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R645K	ENST00000324333.10	37	c.1934	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.539014	0.96474	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.35605	1.3;1.3	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000024	T	0.40932	0.1137	N	0.03930	-0.32	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.99;0.996	D;D;D;P;D	0.77004	0.987;0.987;0.984;0.865;0.989	T	0.58885	-0.7557	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	85;158;158;645;490	Q59FQ6;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	K	490;645	ENSP00000325494:R490K;ENSP00000371398:R645K	ENSP00000325494:R490K	R	-	2	0	GLIS3	3922409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.752000	0.94435	0.655000	0.94253	AGA	GLIS3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	C	NM_152629		3932409	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3932409	C	T	3932409	3	4	75	1	0	0	0	0	1	0	0	0	6466	913	32	1	882	1	GLIS3	9	3932409	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		3932409	137281022	43	11876										
TAF1L	138474	genome.wustl.edu	37	chr9	32630431	32630431	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acccttcaacatccacatcaGagtcttcctcacccagccta	3	18	4	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:32630431G>A	ENST00000242310.4	-	1	5236	c.5147C>T	c.(5146-5148)tCt>tTt	p.S1716F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1716					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCACATCAGAGTCTTCCTC	0.493																																																	0													190	174	180					9																	32630431		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5147C>T	9.37:g.32630431G>A	ENSP00000418379:p.Ser1716Phe		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S1716F	ENST00000242310.4	37	c.5147	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358072	0.24598	.	.	ENSG00000122728	ENST00000242310	T	0.08634	3.07	0.149	0.149	0.14863	.	.	.	.	.	T	0.03915	0.0110	N	0.14661	0.345	0.22701	N	0.998839	P	0.44734	0.842	B	0.38378	0.272	T	0.42666	-0.9438	9	0.20519	T	0.43	.	6.0152	0.19598	5.0E-4:0.0:0.9995:0.0	.	1716	Q8IZX4	TAF1L_HUMAN	F	1716	ENSP00000418379:S1716F	ENSP00000418379:S1716F	S	-	2	0	TAF1L	32620431	1.000000	0.71417	0.057000	0.19452	0.052000	0.14988	3.008000	0.49544	0.192000	0.20272	0.195000	0.17529	TCT	TAF1L	-	pirsf_TAF1_animal		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32630431	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32630431	G	A	32630431	3	1	75	1	0	0	0	0	1	0	0	0	15553	942	33	1	337	1	TAF1L	9	32630431	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	28698022	32630431	108583000	44	11877										
IPPK	64768	genome.wustl.edu	37	chr9	95378117	95378117	+	Silent	SNP	G	G	C													0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acactgcagggaaagagttaGaccttgtggagaactaatgt							TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:95378117G>C	ENST00000287996.3	-	13	1749	c.1473C>G	c.(1471-1473)gtC>gtG	p.V491V	IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Silent_p.V163V	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	491					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GAAAGAGTTAGACCTTGTGGA	0.418																																																	0													130	102	112					9																	95378117		2203	4300	6503	SO:0001819	synonymous_variant	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1473C>G	9.37:g.95378117G>C			Q5T9F7|Q9H7V8	Silent	SNP	pfam_Ins_P5_2-kin	p.V491	ENST00000287996.3	37	c.1473	CCDS6699.1	9																																																																																			IPPK	-	NULL		0.418	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	G	NM_022755		95378117	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	silent	SNP	1.000	C	C	95378117	G	C	95378117	2	2	75	1	0	0	0	0	0	0	0	1	7821	929	33	1		1	IPPK	9	95378117	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	62747686	95378117	45835314	45	11878	64	2								
IPPK	64768	genome.wustl.edu	37	chr9	95378126	95378126	+	Silent	SNP	G	G	A													0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggaaagagttagaccttgtgGagaactaatgtgcaatcttc							TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:95378126G>A	ENST00000287996.3	-	13	1740	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Silent_p.L160L	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	488					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.L488L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AGACCTTGTGGAGAACTAATG	0.428																																																	1	Substitution - coding silent(1)	breast(1)											145	113	124					9																	95378126		2203	4300	6503	SO:0001819	synonymous_variant	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1464C>T	9.37:g.95378126G>A			Q5T9F7|Q9H7V8	Silent	SNP	pfam_Ins_P5_2-kin	p.L488	ENST00000287996.3	37	c.1464	CCDS6699.1	9																																																																																			IPPK	-	NULL		0.428	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	G	NM_022755		95378126	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	silent	SNP	1.000	A	A	95378126	G	A	95378126	2	1	75	1	0	0	0	0	0	0	0	1	7821	1161	41	1		1	IPPK	9	95378126	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	9	95378126	45835305	46	11879	64	2								
GTF3C5	9328	genome.wustl.edu	37	chr9	135906463	135906463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cgtggagctgaggcgggagcGacgcatggtgtgcgtggagt	21	7	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:135906463G>A	ENST00000372097.5	+	1	388	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	GTF3C5_ENST00000372099.6_Missense_Mutation_p.R22Q|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R22Q	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	22					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R22Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGCGGGAGCGACGCATGGTG	0.721																																																	1	Substitution - Missense(1)	lung(1)											38	35	36					9																	135906463		2202	4298	6500	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.65G>A	9.37:g.135906463G>A	ENSP00000361169:p.Arg22Gln		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.R22Q	ENST00000372097.5	37	c.65	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690563	0.48097	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.52526	0.67;0.77;0.66;0.69	5.27	2.46	0.29980	.	0.814868	0.11070	N	0.602973	T	0.30916	0.0780	L	0.27053	0.805	0.21740	N	0.999561	B;B	0.23591	0.088;0.024	B;B	0.17433	0.018;0.003	T	0.21348	-1.0248	10	0.41790	T	0.15	-3.6188	4.7281	0.12950	0.3298:0.1492:0.521:0.0	.	22;22	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	Q	22	ENSP00000361169:R22Q;ENSP00000361171:R22Q;ENSP00000361180:R22Q;ENSP00000339530:R22Q	ENSP00000339530:R22Q	R	+	2	0	GTF3C5	134896284	0.059000	0.20769	0.080000	0.20451	0.753000	0.42808	1.288000	0.33296	0.241000	0.21283	0.561000	0.74099	CGA	GTF3C5	-	NULL		0.721	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	G	NM_001122823		135906463	1	no_errors	ENST00000372108	ensembl	human	known	70_37	missense	SNP	0.046	A	A	135906463	G	A	135906463	3	1	75	1	0	0	0	0	1	0	0	0	6896	1058	37	1	67	1	GTF3C5	9	135906463	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	40528337	135906463	5306968	47	11880										
EHMT1	79813	genome.wustl.edu	37	chr9	140711934	140711934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cgcgggacatgggctggggcGtgcggtccctgcaggacatc	18	12	0	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:140711934G>A	ENST00000460843.1	+	24	3445	c.3418G>A	c.(3418-3420)Gtg>Atg	p.V1140M		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1140	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGGCTGGGGCGTGCGGTCCCT	0.612																																																	0													82	81	81					9																	140711934		2203	4300	6503	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3418G>A	9.37:g.140711934G>A	ENSP00000417980:p.Val1140Met		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.V1140M	ENST00000460843.1	37	c.3418	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900408	0.92035	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.85339	-1.97	4.55	4.55	0.56014	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95223	0.8335	10	0.87932	D	0	.	17.3212	0.87236	0.0:0.0:1.0:0.0	.	1140	Q9H9B1	EHMT1_HUMAN	M	1109;1140	ENSP00000417980:V1140M	ENSP00000360453:V1109M	V	+	1	0	EHMT1	139831755	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.243000	0.95416	2.095000	0.63458	0.561000	0.74099	GTG	EHMT1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.612	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	G	NM_024757		140711934	1	no_errors	ENST00000460843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140711934	G	A	140711934	3	1	75	1	0	0	0	0	1	0	0	0	4993	1145	40	2	3561	2	EHMT1	9	140711934	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	4805471	140711934	501497	48	11881										
CACNA1B	774	genome.wustl.edu	37	chr9	140878595	140878595	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gccatcccgttgcaggtcatCgtggggagcgtctttgaagt	14	10	2	1	rs200577707		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr9:140878595C>T	ENST00000371372.1	+	13	1807	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.I555I|CACNA1B_ENST00000371357.1_Silent_p.I555I|CACNA1B_ENST00000277551.2_Silent_p.I554I|CACNA1B_ENST00000371363.1_Silent_p.I554I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	554					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAGGTCATCGTGGGGAGCG	0.607																																																	0													73	88	83					9																	140878595		2134	4222	6356	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1662C>T	9.37:g.140878595C>T			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.I555	ENST00000371372.1	37	c.1665	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom		0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140878595	1	no_errors	ENST00000371355	ensembl	human	known	70_37	silent	SNP	0.304	T	T	140878595	C	T	140878595	2	4	75	1	0	0	0	0	0	0	0	1	2544	874	31	1		1	CACNA1B	9	140878595	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	166661	140878595	334836	49	11882										
C10orf18	54906	genome.wustl.edu	37	chr10	5790084	5790084	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aaatttggacttaaaacatcTtgtcttggagtccagtgaac	8	7	2	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr10:5790084T>A	ENST00000328090.5	+	15	5325	c.4700T>A	c.(4699-4701)cTt>cAt	p.L1567H		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1567																	TTAAAACATCTTGTCTTGGAG	0.388																																																	0													86	83	84					10																	5790084		1860	4096	5956	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4700T>A	10.37:g.5790084T>A	ENSP00000328426:p.Leu1567His		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.L1567H	ENST00000328090.5	37	c.4700	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316326	0.40996	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.07444	3.19	4.86	0.715	0.18186	.	1.133920	0.06636	N	0.760238	T	0.10078	0.0247	L	0.50333	1.59	0.09310	N	1	P	0.51653	0.947	P	0.45946	0.498	T	0.30937	-0.9961	10	0.29301	T	0.29	.	4.1256	0.10126	0.0:0.2223:0.1835:0.5942	.	1567	Q5VWN6	F208B_HUMAN	H	1567;762	ENSP00000328426:L1567H	ENSP00000328426:L1567H	L	+	2	0	C10orf18	5830090	0.000000	0.05858	0.005000	0.12908	0.779000	0.44077	0.206000	0.17375	0.223000	0.20920	0.460000	0.39030	CTT	FAM208B	-	NULL		0.388	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	T	NM_017782		5790084	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5790084	T	A	5790084	3	1	75	1	0	0	0	0	1	0	0	0	1600	1609	56	5	4746	5	C10orf18	10	5790084	Missense_Mutation	SNP	T	TCGA-EA-A3QD-01A-32D-A22X-09		5790084	129744663	50	11883										
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43650859	43650859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aactaaaacaagaattacaaGaaatgagtgagaagatgcgg	10	4	0	5			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr10:43650859G>C	ENST00000374466.3	+	2	597	c.262G>C	c.(262-264)Gaa>Caa	p.E88Q	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E88Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	88					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGAATTACAAGAAATGAGTGA	0.428																																																	0													56	49	52					10																	43650859		2203	4300	6503	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.262G>C	10.37:g.43650859G>C	ENSP00000363590:p.Glu88Gln		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.E88Q	ENST00000374466.3	37	c.262	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786821	0.49997	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.79653	2.53;-1.29	5.56	5.56	0.83823	.	0.041945	0.85682	D	0.000000	T	0.76478	0.3993	L	0.43701	1.375	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.20384	0.029;0.028	T	0.69139	-0.5224	10	0.20519	T	0.43	-13.6995	19.9019	0.96988	0.0:0.0:1.0:0.0	.	88;88	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	Q	88	ENSP00000363590:E88Q;ENSP00000363588:E88Q	ENSP00000363588:E88Q	E	+	1	0	CSGALNACT2	42970865	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.378000	0.97191	2.781000	0.95711	0.650000	0.86243	GAA	CSGALNACT2	-	pfam_Chond_GalNAc		0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	G	NM_018590		43650859	1	no_errors	ENST00000374466	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43650859	G	C	43650859	3	2	75	1	0	0	0	0	1	0	0	0	3944	943	33	1	264	1	CSGALNACT2	10	43650859	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	37860775	43650859	91883888	51	11884										
PRF1	5551	genome.wustl.edu	37	chr10	72357976	72357976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ctcatgggaaccagacttggGagcctgatcacaggtgccaa	12	11	2	2	rs200589152		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr10:72357976G>A	ENST00000441259.1	-	3	1661	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	PRF1_ENST00000373209.2_Missense_Mutation_p.P501S	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	501					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCAGACTTGGGAGCCTGATCA	0.602			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0								G	SER/PRO,SER/PRO	0,4406		0,0,2203	135	133	134		1501,1501	1.9	0	10		134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PRF1	NM_001083116.1,NM_005041.4	74,74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	501/556,501/556	72357976	1,13005	2203	4300	6503	SO:0001583	missense	5551	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1501C>T	10.37:g.72357976G>A	ENSP00000398568:p.Pro501Ser		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P501S	ENST00000441259.1	37	c.1501	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007252	0.35415	0.0	1.16E-4	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91180	-2.8;-2.8	5.97	1.89	0.25635	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.307137	0.36303	N	0.002670	D	0.88955	0.6578	M	0.79475	2.455	0.09310	N	1	P	0.46457	0.878	B	0.35899	0.213	T	0.80908	-0.1172	10	0.54805	T	0.06	-6.6539	16.8561	0.86006	0.0:0.4906:0.5094:0.0	.	501	P14222	PERF_HUMAN	S	501	ENSP00000362305:P501S;ENSP00000398568:P501S	ENSP00000316746:P501S	P	-	1	0	PRF1	72027982	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.603000	0.24149	0.086000	0.17137	-0.913000	0.02753	CCC	PRF1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.602	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	G	NM_005041		72357976	-1	no_errors	ENST00000318971	ensembl	human	known	70_37	missense	SNP	0.019	A	A	72357976	G	A	72357976	3	1	75	1	0	0	0	0	1	0	0	0	12505	1174	41	1	170	1	PRF1	10	72357976	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	28707117	72357976	63176771	52	11885										
PAPSS2	9060	genome.wustl.edu	37	chr10	89503210	89503210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aggacactcgccgcaggctcCtagagaggggctacaagcac	13	13	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr10:89503210C>T	ENST00000361175.4	+	10	1657	c.1288C>T	c.(1288-1290)Cta>Tta	p.L430L	PAPSS2_ENST00000427144.2_Silent_p.L434L|PAPSS2_ENST00000456849.1_Silent_p.L435L	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	430					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCGCAGGCTCCTAGAGAGGGG	0.592																																																	0													102	98	99					10																	89503210		2203	4300	6503	SO:0001819	synonymous_variant	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1288C>T	10.37:g.89503210C>T			Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.L435	ENST00000361175.4	37	c.1303	CCDS7385.1	10																																																																																			PAPSS2	-	pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase		0.592	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	C			89503210	1	no_errors	ENST00000456849	ensembl	human	known	70_37	silent	SNP	1.000	T	T	89503210	C	T	89503210	2	4	75	1	0	0	0	0	0	0	0	1	11459	680	24	4		4	PAPSS2	10	89503210	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	17145234	89503210	46031537	53	11886										
OR5T3	390154	genome.wustl.edu	37	chr11	56019727	56019727	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ataacctgcaagtaaaaactGaaatggacaagttgtcatca	7	7	2	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr11:56019727G>A	ENST00000303059.3	+	1	52	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGTAAAAACTGAAATGGACAA	0.363																																																	0													72	70	71					11																	56019727		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.52G>A	11.37:g.56019727G>A	ENSP00000305403:p.Glu18Lys		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E18K	ENST00000303059.3	37	c.52	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841391	0.32513	.	.	ENSG00000172489	ENST00000303059	T	0.00003	9.82	4.7	-3.82	0.04281	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.00110	-1.2048	9	0.30854	T	0.27	.	5.9474	0.19227	0.4772:0.0:0.3985:0.1243	.	18	Q8NGG3	OR5T3_HUMAN	K	18	ENSP00000305403:E18K	ENSP00000305403:E18K	E	+	1	0	OR5T3	55776303	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-2.990000	0.00658	-0.484000	0.06763	-0.149000	0.13747	GAA	OR5T3	-	NULL		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	G	NM_001004747		56019727	1	no_errors	ENST00000303059	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56019727	G	A	56019727	3	1	75	1	0	0	0	0	1	0	0	0	11207	1291	45	1	54	1	OR5T3	11	56019727	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		56019727	78986789	54	11887										
NXF1	10482	genome.wustl.edu	37	chr11	62567920	62567920	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agccagagctcttctagcttCagcccctttatcttgtccaa	6	14	4	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr11:62567920C>T	ENST00000532297.1	-	11	1574	c.945G>A	c.(943-945)ctG>ctA	p.L315L	NXF1_ENST00000531131.1_Silent_p.L178L|NXF1_ENST00000439713.2_Silent_p.L315L|NXF1_ENST00000531709.2_Silent_p.L315L|NXF1_ENST00000294172.2_Silent_p.L315L			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	315					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCTAGCTTCAGCCCCTTTA	0.552																																																	0													153	108	123					11																	62567920		2201	4299	6500	SO:0001819	synonymous_variant	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.945G>A	11.37:g.62567920C>T			B4E269|Q99799|Q9UQL2	Silent	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.L315	ENST00000532297.1	37	c.945	CCDS8037.1	11																																																																																			NXF1	-	NULL		0.552	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62567920	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62567920	C	T	62567920	2	4	75	1	0	0	0	0	0	0	0	1	10806	813	29	1		1	NXF1	11	62567920	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	6548193	62567920	72438596	55	11888										
ZFPL1	7542	genome.wustl.edu	37	chr11	64853951	64853951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ccccgaaacacggcacctgcCggctatcagtgccccagctg	10	18	1	0	rs369879946		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr11:64853951C>T	ENST00000294258.3	+	4	431	c.279C>T	c.(277-279)gcC>gcT	p.A93A	CDCA5_ENST00000275517.3_5'Flank|CDCA5_ENST00000404147.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	93					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CGGCACCTGCCGGCTATCAGT	0.612																																																	0								C		0,4402		0,0,2201	137	145	142		279	-9.3	0.9	11		142	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ZFPL1	NM_006782.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		93/311	64853951	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.279C>T	11.37:g.64853951C>T			A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.P56L	ENST00000294258.3	37	c.167	CCDS8092.1	11																																																																																			ZFPL1	-	NULL		0.612	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	C	NM_006782		64853951	1	no_errors	ENST00000531761	ensembl	human	known	70_37	missense	SNP	0.659	T	T	64853951	C	T	64853951	2	4	75	1	0	0	0	0	0	0	0	1	17686	639	23	2		2	ZFPL1	11	64853951	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	2286031	64853951	70152565	56	11889										
ODZ4	26011	genome.wustl.edu	37	chr11	78780941	78780941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggtgtagcggcgctcggcgtCgcggcgccgggtcagcgagc	20	13	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr11:78780941C>T	ENST00000278550.7	-	5	511	c.49G>A	c.(49-51)Gac>Aac	p.D17N	TENM4_ENST00000533038.1_5'UTR	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	17	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGCTCGGCGTCGCGGCGCCGG	0.677																																																	0													30	34	33					11																	78780941		692	1591	2283	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.49G>A	11.37:g.78780941C>T	ENSP00000278550:p.Asp17Asn		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D17N	ENST00000278550.7	37	c.49	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001870	0.93227	.	.	ENSG00000149256	ENST00000278550	T	0.36699	1.24	4.54	4.54	0.55810	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	N	0.22421	0.69	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.989	T	0.37267	-0.9713	9	.	.	.	.	17.8567	0.88765	0.0:1.0:0.0:0.0	.	17;17	G3CAT1;Q6N022	.;TEN4_HUMAN	N	17	ENSP00000278550:D17N	.	D	-	1	0	ODZ4	78458589	1.000000	0.71417	0.957000	0.39632	0.968000	0.65278	7.294000	0.78760	2.525000	0.85131	0.655000	0.94253	GAC	TENM4	-	pfam_Ten_N		0.677	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78780941	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78780941	C	T	78780941	3	4	75	1	0	0	0	0	1	0	0	0	10861	884	31	1	8380	1	ODZ4	11	78780941	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	13926990	78780941	56225575	57	11890										
PLBD1	79887	genome.wustl.edu	37	chr12	14659146	14659146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gttaggtgagttcaggtcctCacggcagcagatggtattac	13	8	2	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr12:14659146C>T	ENST00000240617.5	-	10	2081	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	477					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCAGGTCCTCACGGCAGCAG	0.448																																																	0													126	111	116					12																	14659146		2203	4300	6503	SO:0001583	missense	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1429G>A	12.37:g.14659146C>T	ENSP00000240617:p.Glu477Lys		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.E477K	ENST00000240617.5	37	c.1429	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809761	0.16537	.	.	ENSG00000121316	ENST00000240617	T	0.18502	2.21	5.91	2.98	0.34508	.	0.497962	0.22993	N	0.053164	T	0.14270	0.0345	L	0.47716	1.5	0.09310	N	0.999998	B	0.16166	0.016	B	0.16722	0.016	T	0.32798	-0.9893	10	0.12766	T	0.61	-7.1055	11.2326	0.48920	0.1351:0.605:0.2599:0.0	.	477	Q6P4A8	PLBL1_HUMAN	K	477	ENSP00000240617:E477K	ENSP00000240617:E477K	E	-	1	0	PLBD1	14550413	0.045000	0.20229	0.794000	0.32065	0.945000	0.59286	1.271000	0.33098	0.347000	0.23924	0.655000	0.94253	GAG	PLBD1	-	pfam_PLipase_B-like		0.448	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	C	NM_024829		14659146	-1	no_errors	ENST00000240617	ensembl	human	known	70_37	missense	SNP	0.224	T	T	14659146	C	T	14659146	3	4	75	1	0	0	0	0	1	0	0	0	12049	835	29	1	240	1	PLBD1	12	14659146	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		14659146	119192749	58	11891										
OR6C1	390321	genome.wustl.edu	37	chr12	55714984	55714984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aggtgatgggattttcttgtGctgcgtttactctaatgttc	11	6	2	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr12:55714984G>T	ENST00000379668.2	+	1	639	c.601G>T	c.(601-603)Gct>Tct	p.A201S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ATTTTCTTGTGCTGCGTTTAC	0.343																																																	0													95	83	87					12																	55714984		2202	4300	6502	SO:0001583	missense	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.601G>T	12.37:g.55714984G>T	ENSP00000368990:p.Ala201Ser		B2RNM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A201S	ENST00000379668.2	37	c.601	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	g	13.96	2.392045	0.42410	.	.	ENSG00000205330	ENST00000379668	T	0.37058	1.22	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.39517	0.1081	L	0.41710	1.295	0.28312	N	0.922644	P	0.40794	0.729	P	0.48304	0.573	T	0.34551	-0.9824	10	0.62326	D	0.03	.	12.4357	0.55598	0.0:0.0:0.8316:0.1684	.	201	Q96RD1	OR6C1_HUMAN	S	201	ENSP00000368990:A201S	ENSP00000368990:A201S	A	+	1	0	OR6C1	54001251	0.002000	0.14202	0.809000	0.32408	0.748000	0.42578	1.167000	0.31847	2.461000	0.83175	0.563000	0.77884	GCT	OR6C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.343	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	G	NM_001005182		55714984	1	no_errors	ENST00000379668	ensembl	human	known	70_37	missense	SNP	0.606	T	T	55714984	G	T	55714984	3	4	75	1	0	0	0	0	1	0	0	0	11214	1319	46	4	603	4	OR6C1	12	55714984	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	41055838	55714984	78136911	59	11892										
C12orf42	374470	genome.wustl.edu	37	chr12	103872172	103872172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	atggttagcaagaattcttcTtccctttgtttcatacatat	5	8	3	1	rs10778257	byFrequency	TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr12:103872172T>A	ENST00000378113.2	-	2	258	c.33A>T	c.(31-33)gaA>gaT	p.E11D	C12orf42_ENST00000548048.1_De_novo_Start_OutOfFrame|C12orf42_ENST00000548883.1_Missense_Mutation_p.E11D|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.E11D	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	11			E -> D (in dbSNP:rs10778257). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAATTCTTCTTCCCTTTGTT	0.333																																																	0													144	130	135					12																	103872172		1857	4089	5946	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.33A>T	12.37:g.103872172T>A	ENSP00000367353:p.Glu11Asp		Q49A64|Q4G0S2	Missense_Mutation	SNP	NULL	p.E11D	ENST00000378113.2	37	c.33	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041227	0.35989	.	.	ENSG00000179088	ENST00000315192;ENST00000548883;ENST00000378113;ENST00000552578	T;T;T;T	0.53640	0.61;1.27;1.27;1.25	3.44	-0.6	0.11642	.	.	.	.	.	T	0.24005	0.0581	N	0.14661	0.345	0.80722	P	0.0	B	0.28552	0.215	B	0.26693	0.072	T	0.18209	-1.0344	8	0.39692	T	0.17	-8.3748	2.6914	0.05122	0.1934:0.2294:0.0:0.5773	.	11	Q96LP6	CL042_HUMAN	D	11	ENSP00000324984:E11D;ENSP00000447908:E11D;ENSP00000367353:E11D;ENSP00000447795:E11D	ENSP00000324984:E11D	E	-	3	2	C12orf42	102396302	0.004000	0.15560	0.002000	0.10522	0.013000	0.08279	0.051000	0.14141	-0.099000	0.12263	0.459000	0.35465	GAA	C12orf42	-	NULL		0.333	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	T	NM_198521		103872172	-1	no_errors	ENST00000378113	ensembl	human	known	70_37	missense	SNP	0.003	A	A	103872172	T	A	103872172	3	1	75	1	0	0	0	0	1	0	0	0	1692	1606	56	5	1069	5	C12orf42	12	103872172	Missense_Mutation	SNP	T	TCGA-EA-A3QD-01A-32D-A22X-09	48157188	103872172	29979723	60	11893										
SFRS8	6433	genome.wustl.edu	37	chr12	132239006	132239006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tatgtcgccaggaacggcctGaagttcgagaccagtgttcg	13	10	0	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr12:132239006G>A	ENST00000261674.4	+	9	1557	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Silent_p.L472L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	472					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAACGGCCTGAAGTTCGAGA	0.537																																																	0													57	58	58					12																	132239006		2203	4300	6503	SO:0001819	synonymous_variant	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1416G>A	12.37:g.132239006G>A			B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.L472	ENST00000261674.4	37	c.1416	CCDS9273.1	12																																																																																			SFSWAP	-	pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp		0.537	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132239006	1	no_errors	ENST00000261674	ensembl	human	known	70_37	silent	SNP	0.430	A	A	132239006	G	A	132239006	2	1	75	1	0	0	0	0	0	0	0	1	14213	1277	45	1		1	SFRS8	12	132239006	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	28366834	132239006	1612889	61	11894										
SGCG	6445	genome.wustl.edu	37	chr13	23898522	23898522	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	accagcttgtgcttgatgctGaaactgtgtgcttacccaag	10	10	0	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr13:23898522G>A	ENST00000218867.3	+	8	842	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	SGCG_ENST00000545013.1_Missense_Mutation_p.E240K|SGCG_ENST00000537476.1_Missense_Mutation_p.E240K	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	240					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCTTGATGCTGAAACTGTGTG	0.527																																																	0													99	81	87					13																	23898522		2203	4300	6503	SO:0001583	missense	6445			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.718G>A	13.37:g.23898522G>A	ENSP00000218867:p.Glu240Lys		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.E240K	ENST00000218867.3	37	c.718	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959312	0.74016	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94687	-3.49;-3.49;-3.49	5.28	5.28	0.74379	.	0.049370	0.85682	D	0.000000	D	0.94305	0.8170	M	0.62723	1.935	0.80722	D	1	P	0.44380	0.834	P	0.48189	0.57	D	0.92440	0.5961	10	0.09590	T	0.72	-3.5486	18.9107	0.92483	0.0:0.0:1.0:0.0	.	240	Q13326	SGCG_HUMAN	K	240	ENSP00000218867:E240K;ENSP00000444100:E240K;ENSP00000442232:E240K	ENSP00000218867:E240K	E	+	1	0	SGCG	22796522	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	8.950000	0.93019	2.476000	0.83614	0.555000	0.69702	GAA	SGCG	-	pfam_Sarcoglycan		0.527	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	G	NM_000231		23898522	1	no_errors	ENST00000218867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23898522	G	A	23898522	3	1	75	1	0	0	0	0	1	0	0	0	14233	1291	45	1	744	1	SGCG	13	23898522	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		23898522	91271356	62	11895										
DACH1	1602	genome.wustl.edu	37	chr13	72049919	72049919	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acgccgtttcgtctcaaactCaagtgcttcctgcaattttc	6	13	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr13:72049919C>G	ENST00000359684.2	-	10	2094	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	DACH1_ENST00000305425.4_Missense_Mutation_p.E647Q|DACH1_ENST00000354591.4_Missense_Mutation_p.E445Q|DACH1_ENST00000313174.7_Missense_Mutation_p.E499Q			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	699	Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTCTCAAACTCAAGTGCTTCC	0.373																																																	0													300	278	285					13																	72049919		1887	4107	5994	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2095G>C	13.37:g.72049919C>G	ENSP00000352712:p.Glu699Gln		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E699Q	ENST00000359684.2	37	c.2095		13	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982364	0.93044	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.39592	1.13;1.18;1.15;1.07	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.64567	1.98	0.36190	D	0.849988	D;D;D	0.89917	0.996;0.997;1.0	D;D;D	0.91635	0.991;0.993;0.999	T	0.70230	-0.4929	10	0.59425	D	0.04	-12.5036	19.4158	0.94697	0.0:1.0:0.0:0.0	.	443;497;645	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	Q	647;499;445;699;699	ENSP00000304994:E647Q;ENSP00000318506:E499Q;ENSP00000346604:E445Q;ENSP00000352712:E699Q	ENSP00000304994:E647Q	E	-	1	0	DACH1	70947920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.593000	0.82686	2.662000	0.90505	0.655000	0.94253	GAG	DACH1	-	NULL		0.373	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	C	NM_004392		72049919	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72049919	C	G	72049919	3	3	75	1	0	0	0	0	1	0	0	0	4225	835	29	1	199	1	DACH1	13	72049919	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	48151397	72049919	43119959	63	11896										
DCT	1638	genome.wustl.edu	37	chr13	95095858	95095858	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	attaaatcttttcatccactCatcaaagatggcatcagtaa	4	9	5	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr13:95095858C>T	ENST00000377028.5	-	7	1626	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	DCT_ENST00000446125.1_Missense_Mutation_p.E438K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	405					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTCATCCACTCATCAAAGATG	0.453																																																	0													66	62	64					13																	95095858		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1213G>A	13.37:g.95095858C>T	ENSP00000366227:p.Glu405Lys		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.E438K	ENST00000377028.5	37	c.1312	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	31	5.089131	0.94100	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99201	-5.21;-5.55	5.79	4.93	0.64822	Tyrosinase (2);Uncharacterised domain, di-copper centre (2);	0.161807	0.53938	D	0.000042	D	0.99023	0.9666	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99884	1.1118	10	0.25751	T	0.34	-21.3333	16.605	0.84826	0.0:0.8697:0.1303:0.0	.	438;405	Q09GT4;P40126	.;TYRP2_HUMAN	K	12;405;438	ENSP00000366227:E405K;ENSP00000392762:E438K	ENSP00000366220:E12K	E	-	1	0	DCT	93893859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.015000	0.57152	1.394000	0.46624	0.650000	0.86243	GAG	DCT	-	superfamily_Unchr_di-copper_centre		0.453	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	C			95095858	-1	no_errors	ENST00000446125	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95095858	C	T	95095858	3	4	75	1	0	0	0	0	1	0	0	0	4309	835	29	1	354	1	DCT	13	95095858	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	23045939	95095858	20074020	64	11897										
CIDEB	27141	genome.wustl.edu	37	chr14	24775181	24775181	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tttctttgggccaagtccttGaaagtcacaactcatagagt	8	9	3	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr14:24775181G>A	ENST00000336557.5	-	7	1801	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	CIDEB_ENST00000258807.5_Nonsense_Mutation_p.Q167*|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Nonsense_Mutation_p.Q167*|LTB4R2_ENST00000528054.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	167					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CCAAGTCCTTGAAAGTCACAA	0.473																																																	0													125	124	124					14																	24775181		2203	4300	6503	SO:0001587	stop_gained	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.499C>T	14.37:g.24775181G>A	ENSP00000337731:p.Gln167*		D3DS73|Q546V8|Q9NNW9	Nonsense_Mutation	SNP	pfam_CAD,smart_CAD,pfscan_CAD	p.Q167*	ENST00000336557.5	37	c.499	CCDS32056.1	14	.	.	.	.	.	.	.	.	.	.	G	38	7.000295	0.97994	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	.	.	.	4.93	4.04	0.47022	.	0.119846	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-13.2752	7.8844	0.29642	0.0858:0.0:0.7536:0.1606	.	.	.	.	X	167	.	ENSP00000258807:Q167X	Q	-	1	0	CIDEB	23845021	1.000000	0.71417	0.897000	0.35233	0.984000	0.73092	3.339000	0.52135	1.322000	0.45245	0.563000	0.77884	CAA	CIDEB	-	NULL		0.473	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	G			24775181	-1	no_errors	ENST00000258807	ensembl	human	known	70_37	nonsense	SNP	0.977	A	A	24775181	G	A	24775181	4	1	75	1	0	0	0	0	0	1	0	0	3431	1299	45	1	168	1	CIDEB	14	24775181	Nonsense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		24775181	82574359	65	11898										
NID2	22795	genome.wustl.edu	37	chr14	52520405	52520405	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tcgaagaacaatttcttcttCaggatgagctgggggaacat	11	7	3	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr14:52520405C>T	ENST00000216286.5	-	5	1320	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	NID2_ENST00000541773.1_Missense_Mutation_p.E388K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	441					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATTTCTTCTTCAGGATGAGCT	0.532																																																	0													95	94	94					14																	52520405		2203	4300	6503	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1321G>A	14.37:g.52520405C>T	ENSP00000216286:p.Glu441Lys		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E441K	ENST00000216286.5	37	c.1321	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	7.348	0.622288	0.14193	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.84070	-1.8;-1.7	5.5	4.62	0.57501	.	1.138210	0.06378	N	0.714729	T	0.75635	0.3876	L	0.27053	0.805	0.09310	N	1	B;B;B	0.29037	0.231;0.146;0.105	B;B;B	0.25291	0.059;0.038;0.036	T	0.59984	-0.7351	10	0.25751	T	0.34	.	13.0996	0.59212	0.0:0.9216:0.0:0.0784	.	388;443;441	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	K	441;388;443	ENSP00000216286:E441K;ENSP00000443730:E388K	ENSP00000216286:E441K	E	-	1	0	NID2	51590155	0.000000	0.05858	0.014000	0.15608	0.095000	0.18619	0.428000	0.21395	1.319000	0.45190	0.655000	0.94253	GAA	NID2	-	NULL		0.532	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	C			52520405	-1	no_errors	ENST00000216286	ensembl	human	known	70_37	missense	SNP	0.201	T	T	52520405	C	T	52520405	3	4	75	1	0	0	0	0	1	0	0	0	10439	835	29	1	2878	1	NID2	14	52520405	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	27745224	52520405	54829135	66	11899										
DPF3	8110	genome.wustl.edu	37	chr14	73238501	73238501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gttctgggccaccccagtctGtgagtccaggaagggaagac	14	11	2	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr14:73238501G>A	ENST00000556509.1	-	2	132	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	DPF3_ENST00000541685.1_Nonsense_Mutation_p.Q45*|DPF3_ENST00000546183.1_Nonsense_Mutation_p.Q55*	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	45					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCCCAGTCTGTGAGTCCAGG	0.607																																																	0													79	86	84					14																	73238501		2198	4300	6498	SO:0001587	stop_gained	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.133C>T	14.37:g.73238501G>A	ENSP00000450518:p.Gln45*		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q100*	ENST00000556509.1	37	c.298		14	.	.	.	.	.	.	.	.	.	.	g	38	6.767348	0.97825	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5011	0.95095	0.0:0.0:1.0:0.0	.	.	.	.	X	45;45;44;45;55	.	ENSP00000381791:Q100X	Q	-	1	0	DPF3	72308254	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.851000	0.99511	2.619000	0.88677	0.651000	0.88453	CAG	DPF3	-	NULL		0.607	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	G			73238501	-1	no_errors	ENST00000366353	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	73238501	G	A	73238501	4	1	75	1	0	0	0	0	0	1	0	0	4728	1386	48	4	972	4	DPF3	14	73238501	Nonsense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	20718096	73238501	34111039	67	11900										
C15orf2	23742	genome.wustl.edu	37	chr15	24923236	24923236	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acccagcggcaacactgcctCagtccaaggctccaccagtt	8	17	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr15:24923236C>T	ENST00000329468.2	+	1	2696	c.2222C>T	c.(2221-2223)tCa>tTa	p.S741L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	741					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S741*(1)									AACACTGCCTCAGTCCAAGGC	0.542																																																	1	Substitution - Nonsense(1)	lung(1)											108	110	109					15																	24923236		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2222C>T	15.37:g.24923236C>T	ENSP00000333735:p.Ser741Leu			Missense_Mutation	SNP	NULL	p.S741L	ENST00000329468.2	37	c.2222	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	2.930	-0.221242	0.06061	.	.	ENSG00000185823	ENST00000329468	T	0.05081	3.5	2.31	-3.31	0.04988	.	2.387900	0.02127	N	0.056063	T	0.05273	0.0140	L	0.31926	0.97	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.39440	-0.9614	10	0.66056	D	0.02	.	1.6627	0.02796	0.1953:0.2776:0.3863:0.1408	.	741	Q9NZP6	CO002_HUMAN	L	741	ENSP00000333735:S741L	ENSP00000333735:S741L	S	+	2	0	C15orf2	22474329	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.065000	0.03458	-0.747000	0.04759	0.195000	0.17529	TCA	NPAP1	-	NULL		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24923236	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	T	T	24923236	C	T	24923236	3	4	75	1	0	0	0	0	1	0	0	0	1788	838	29	1	2224	1	C15orf2	15	24923236	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		24923236	77608156	68	11901										
ITGA11	22801	genome.wustl.edu	37	chr15	68649536	68649536	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cgggtctctgttcctcctctCtgctcaatgtggctggcagc	11	14	3	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr15:68649536C>T	ENST00000315757.7	-	7	788	c.702G>A	c.(700-702)caG>caA	p.Q234Q	ITGA11_ENST00000423218.2_Silent_p.Q234Q|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	234	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TTCCTCCTCTCTGCTCAATGT	0.428																																																	0													81	80	80					15																	68649536		1935	4138	6073	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.702G>A	15.37:g.68649536C>T			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q234	ENST00000315757.7	37	c.702	CCDS45291.1	15																																																																																			ITGA11	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.428	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		C	NM_012211		68649536	-1	no_errors	ENST00000315757	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68649536	C	T	68649536	2	4	75	1	0	0	0	0	0	0	0	1	7894	912	32	1		1	ITGA11	15	68649536	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	43726300	68649536	33881856	69	11902										
PKM2	5315	genome.wustl.edu	37	chr15	72492830	72492830	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cgtaccaacattcatggcaaAgttcacccggaggtccacgt	9	13	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr15:72492830A>T	ENST00000335181.5	-	10	1577	c.1474T>A	c.(1474-1476)Ttt>Att	p.F492I	GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000565154.1_Missense_Mutation_p.F492I|PKM_ENST00000449901.2_Missense_Mutation_p.F477I|PKM_ENST00000319622.6_Missense_Mutation_p.F492I|PKM_ENST00000565184.1_Missense_Mutation_p.F492I|PKM_ENST00000568883.1_Missense_Mutation_p.F327I|PKM_ENST00000389093.3_Missense_Mutation_p.F492I|PKM_ENST00000568459.1_Missense_Mutation_p.F492I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	492	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TTCATGGCAAAGTTCACCCGG	0.607																																																	0													53	49	50					15																	72492830		2199	4297	6496	SO:0001583	missense	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1474T>A	15.37:g.72492830A>T	ENSP00000334983:p.Phe492Ile		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.F492I	ENST00000335181.5	37	c.1474	CCDS32284.1	15	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140536	0.56936	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.03	1.63	0.23807	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.132849	0.52532	D	0.000077	D	0.95717	0.8607	N	0.13235	0.315	0.47476	D	0.999436	B;B;B;B;B;B;B;B;B	0.34200	0.441;0.02;0.023;0.184;0.044;0.018;0.281;0.158;0.155	B;B;B;B;B;B;B;B;B	0.40982	0.14;0.089;0.048;0.221;0.131;0.028;0.345;0.14;0.276	D	0.91599	0.5293	10	0.59425	D	0.04	-6.4871	4.2326	0.10610	0.4641:0.0:0.3797:0.1563	.	418;477;472;472;492;492;327;419;327	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	I	492;492;419;327;492;477	ENSP00000320171:F492I;ENSP00000334983:F492I;ENSP00000373745:F492I;ENSP00000403365:F477I	ENSP00000320171:F492I	F	-	1	0	PKM2	70279884	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.480000	0.22244	0.394000	0.25230	0.459000	0.35465	TTT	PKM	-	pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase		0.607	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKM	HGNC	protein_coding	OTTHUMT00000420056.1	A			72492830	-1	no_errors	ENST00000319622	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72492830	A	T	72492830	3	4	75	1	0	0	0	0	1	0	0	0	12001	72	3	5	129	5	PKM2	15	72492830	Missense_Mutation	SNP	A	TCGA-EA-A3QD-01A-32D-A22X-09	3843294	72492830	30038562	70	11903										
CREBBP	1387	genome.wustl.edu	37	chr16	3779771	3779771	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tcctgggggctctttgactgTggctcgccctggctgctgcc	14	14	1	1	rs566062184	byFrequency	TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr16:3779771T>A	ENST00000262367.5	-	31	6086	c.5277A>T	c.(5275-5277)ccA>ccT	p.P1759P	CREBBP_ENST00000382070.3_Silent_p.P1721P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1759	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTTGACTGTGGCTCGCCCT	0.632			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													32	33	33					16																	3779771		2197	4299	6496	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5277A>T	16.37:g.3779771T>A			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P1759	ENST00000262367.5	37	c.5277	CCDS10509.1	16																																																																																			CREBBP	-	NULL		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	T	NM_004380		3779771	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	silent	SNP	0.987	A	A	3779771	T	A	3779771	2	1	75	1	0	0	0	0	0	0	0	1	3866	1683	59	5		5	CREBBP	16	3779771	Silent	SNP	T	TCGA-EA-A3QD-01A-32D-A22X-09		3779771	86574982	71	11904										
DNAH3	55567	genome.wustl.edu	37	chr16	20974837	20974837	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agacccagggagttgctcctCatggggccaggccgagtcat	14	12	2	1	rs3743695	byFrequency	TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr16:20974837C>A	ENST00000261383.3	-	53	10368	c.10369G>T	c.(10369-10371)Gag>Tag	p.E3457*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3457			E -> K (in dbSNP:rs3743695).		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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTGCTCCTCATGGGGCCAG	0.542																																																	0													88	72	78					16																	20974837		2201	4300	6501	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10369G>T	16.37:g.20974837C>A	ENSP00000261383:p.Glu3457*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3457*	ENST00000261383.3	37	c.10369	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	49	16.021316	0.99852	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.39	4.43	0.53597	.	0.270020	0.34777	N	0.003683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.9519	0.64123	0.0:0.9266:0.0:0.0734	.	.	.	.	X	3457	.	ENSP00000261383:E3457X	E	-	1	0	DNAH3	20882338	0.966000	0.33281	0.225000	0.23894	0.456000	0.32438	2.627000	0.46469	1.259000	0.44117	0.563000	0.77884	GAG	DNAH3	-	pfam_Dynein_heavy_dom		0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20974837	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	nonsense	SNP	0.799	A	A	20974837	C	A	20974837	4	1	75	1	0	0	0	0	0	1	0	0	4613	835	29	3	2020	3	DNAH3	16	20974837	Nonsense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	17195066	20974837	69379916	72	11905										
CDH11	1009	genome.wustl.edu	37	chr16	64984907	64984907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ccctccacgccgggcgtacaCgcctgctgtgttatctgcag	11	16	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr16:64984907C>T	ENST00000268603.4	-	12	2272	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	CDH11_ENST00000566827.1_Missense_Mutation_p.V427M|CDH11_ENST00000394156.3_Missense_Mutation_p.V553M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGGGCGTACACGCCTGCTGTG	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													50	50	50					16																	64984907		2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1657G>A	16.37:g.64984907C>T	ENSP00000268603:p.Val553Met		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V553M	ENST00000268603.4	37	c.1657	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242815	0.39598	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.62364	1.98;0.03	5.55	4.59	0.56863	Cadherin (3);Cadherin-like (1);	0.229969	0.45126	D	0.000381	T	0.68723	0.3032	M	0.73962	2.25	0.27581	N	0.949574	D;P	0.56521	0.976;0.947	P;B	0.51833	0.681;0.358	T	0.67130	-0.5748	10	0.87932	D	0	.	10.1408	0.42734	0.0:0.8475:0.0:0.1525	.	553;553	P55287-2;P55287	.;CAD11_HUMAN	M	553;553;536	ENSP00000268603:V553M;ENSP00000377711:V553M	ENSP00000268603:V553M	V	-	1	0	CDH11	63542408	0.091000	0.21658	0.138000	0.22173	0.084000	0.17831	0.485000	0.22324	2.594000	0.87642	0.655000	0.94253	GTG	CDH11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	C	NM_033664		64984907	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	missense	SNP	0.320	T	T	64984907	C	T	64984907	3	4	75	1	0	0	0	0	1	0	0	0	3102	536	19	2	741	2	CDH11	16	64984907	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	44010070	64984907	25369846	73	11906										
ANKRD11	29123	genome.wustl.edu	37	chr16	89352026	89352026	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tcgactgaactggaaggtgcGaaggatggtgcgtcttcctc	14	9	1	1	rs373627320		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr16:89352026G>A	ENST00000301030.4	-	9	1384	c.924C>T	c.(922-924)ttC>ttT	p.F308F	ANKRD11_ENST00000378330.2_Silent_p.F308F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	308					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGAAGGTGCGAAGGATGGTG	0.577																																																	0								G		0,4396		0,0,2198	158	128	138		924	-4.2	0.7	16		138	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANKRD11	NM_013275.4		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		308/2664	89352026	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.924C>T	16.37:g.89352026G>A			Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F308	ENST00000301030.4	37	c.924	CCDS32513.1	16																																																																																			ANKRD11	-	NULL		0.577	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	G	NM_013275		89352026	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	silent	SNP	0.998	A	A	89352026	G	A	89352026	2	1	75	1	0	0	0	0	0	0	0	1	639	1049	37	1		1	ANKRD11	16	89352026	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	24367119	89352026	1002727	74	11907										
GEMIN4	50628	genome.wustl.edu	37	chr17	648202	648202	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aagcgctgctcgtgtgccctCtggagcaaggagctgacaga	14	11	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr17:648202C>G	ENST00000319004.5	-	2	3199	c.3081G>C	c.(3079-3081)caG>caC	p.Q1027H	GEMIN4_ENST00000576778.1_Missense_Mutation_p.Q1016H	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1027					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTGTGCCCTCTGGAGCAAGG	0.547																																																	0													55	55	55					17																	648202		1985	4150	6135	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.3081G>C	17.37:g.648202C>G	ENSP00000321706:p.Gln1027His		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.Q1027H	ENST00000319004.5	37	c.3081	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573609	0.45902	.	.	ENSG00000179409	ENST00000319004	T	0.06294	3.32	5.71	2.55	0.30701	.	0.199024	0.45361	D	0.000365	T	0.09291	0.0229	L	0.54323	1.7	0.80722	D	1	P	0.48503	0.911	P	0.47941	0.562	T	0.06338	-1.0832	10	0.66056	D	0.02	-16.4118	6.1009	0.20047	0.0:0.5439:0.2456:0.2105	.	1027	P57678	GEMI4_HUMAN	H	1027	ENSP00000321706:Q1027H	ENSP00000321706:Q1027H	Q	-	3	2	GEMIN4	594952	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.295000	0.33377	0.789000	0.33779	0.655000	0.94253	CAG	GEMIN4	-	NULL		0.547	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	C	NM_015721		648202	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	missense	SNP	1.000	G	G	648202	C	G	648202	3	3	75	1	0	0	0	0	1	0	0	0	6349	912	32	1	99	1	GEMIN4	17	648202	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		648202	80547008	75	11908										
GEMIN4	50628	genome.wustl.edu	37	chr17	650523	650523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cacctcctgggggtcgtcctCtgtcagcgcaaacacagtca	10	15	3	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr17:650523C>T	ENST00000319004.5	-	2	878	c.760G>A	c.(760-762)Gag>Aag	p.E254K	GEMIN4_ENST00000576778.1_Missense_Mutation_p.E243K|GEMIN4_ENST00000437269.1_Splice_Site	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	254					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGGTCGTCCTCTGTCAGCGCA	0.612																																																	0													92	101	98					17																	650523		2177	4267	6444	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.760G>A	17.37:g.650523C>T	ENSP00000321706:p.Glu254Lys		Q9NZS7|Q9UG32|Q9Y4Q2	Splice_Site	SNP	-	e3-1	ENST00000319004.5	37	c.499-1	CCDS45559.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.608|8.608	0.888548|0.888548	0.17540|0.17540	.|.	.|.	ENSG00000179409|ENSG00000179409	ENST00000437269|ENST00000319004	.|T	.|0.16897	.|2.31	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.401303	.|0.26895	.|N	.|0.021941	.|T	.|0.31263	.|0.0791	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999985|0.999985	.|D	.|0.56521	.|0.976	.|P	.|0.53266	.|0.722	.|T	.|0.00909	.|-1.1518	.|10	.|0.44086	.|T	.|0.13	.|-16.3349	15.5742|15.5742	0.76362|0.76362	0.0:0.8622:0.1378:0.0|0.0:0.8622:0.1378:0.0	.|.	.|254	.|P57678	.|GEMI4_HUMAN	.|K	-1|254	.|ENSP00000321706:E254K	.|ENSP00000321706:E254K	.|E	-|-	.|1	.|0	GEMIN4|GEMIN4	597273|597273	0.287000|0.287000	0.24315|0.24315	0.968000|0.968000	0.41197|0.41197	0.281000|0.281000	0.26958|0.26958	4.625000|4.625000	0.61262|0.61262	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	.|GAG	GEMIN4	-	-		0.612	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	C	NM_015721		650523	-1	no_errors	ENST00000437269	ensembl	human	putative	70_37	splice_site	SNP	0.181	T	T	650523	C	T	650523	3	4	75	1	0	0	0	0	1	0	0	0	6349	922	32	1	2420	1	GEMIN4	17	650523	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	2321	650523	80544687	76	11909										
OR1A1	8383	genome.wustl.edu	37	chr17	3119561	3119561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	attactatgcatcattgtctCctatattcgagtcttctcca	4	11	4	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr17:3119561C>A	ENST00000304094.1	+	1	647	c.647C>A	c.(646-648)tCc>tAc	p.S216Y		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCATTGTCTCCTATATTCGA	0.488																																																	0													275	242	253					17																	3119561		2203	4300	6503	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.647C>A	17.37:g.3119561C>A	ENSP00000305207:p.Ser216Tyr		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S216Y	ENST00000304094.1	37	c.647	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835600	0.50951	.	.	ENSG00000172146	ENST00000304094	T	0.46063	0.88	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.79299	0.4422	H	0.98901	4.365	0.49687	D	0.999818	D	0.89917	1.0	D	0.91635	0.999	D	0.87955	0.2726	10	0.87932	D	0	.	16.9322	0.86193	0.0:1.0:0.0:0.0	.	216	Q9P1Q5	OR1A1_HUMAN	Y	216	ENSP00000305207:S216Y	ENSP00000305207:S216Y	S	+	2	0	OR1A1	3066311	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	7.199000	0.77831	2.584000	0.87258	0.436000	0.28706	TCC	OR1A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	HGNC	protein_coding	OTTHUMT00000207292.1	C	NM_014565		3119561	1	no_errors	ENST00000304094	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3119561	C	A	3119561	3	1	75	1	0	0	0	0	1	0	0	0	10973	855	30	3	649	3	OR1A1	17	3119561	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	2469038	3119561	78075649	77	11910										
TRPV2	51393	genome.wustl.edu	37	chr17	16331655	16331655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggtacttctggcggcgccacGtgttcatctggatctcgttc	12	12	4	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr17:16331655G>A	ENST00000338560.7	+	9	1774	c.1375G>A	c.(1375-1377)Gtg>Atg	p.V459M	AC093484.4_ENST00000441875.1_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.V29M|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	459				V -> L (in Ref. 2; AAD41724). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCGGCGCCACGTGTTCATCTG	0.577											OREG0024202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													200	183	189					17																	16331655		2203	4300	6503	SO:0001583	missense	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1375G>A	17.37:g.16331655G>A	ENSP00000342222:p.Val459Met	709	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.V459M	ENST00000338560.7	37	c.1375	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315835	0.40996	.	.	ENSG00000187688	ENST00000338560	D	0.89681	-2.55	5.57	3.6	0.41247	Ion transport (1);	0.405134	0.26796	N	0.022442	T	0.77558	0.4148	N	0.08118	0	0.09310	N	0.999996	B	0.31879	0.344	B	0.35550	0.205	T	0.67237	-0.5721	10	0.34782	T	0.22	-39.5043	9.9192	0.41453	0.0:0.7824:0.1415:0.0761	.	459	Q9Y5S1	TRPV2_HUMAN	M	459	ENSP00000342222:V459M	ENSP00000342222:V459M	V	+	1	0	TRPV2	16272380	0.223000	0.23663	0.917000	0.36280	0.495000	0.33615	0.645000	0.24782	0.729000	0.32403	-0.139000	0.14373	GTG	TRPV2	-	tigrfam_TRP_channel		0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	G	NM_016113		16331655	1	no_errors	ENST00000338560	ensembl	human	known	70_37	missense	SNP	0.993	A	A	16331655	G	A	16331655	3	1	75	1	0	0	0	0	1	0	0	0	16627	1145	40	2	1405	2	TRPV2	17	16331655	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	13212094	16331655	64863555	78	11911										
POLG2	11232	genome.wustl.edu	37	chr17	62473998	62473998	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agtcttttaatttggatataTgcatcatttccttcattgtg	6	6	3	0	rs537103723		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr17:62473998T>A	ENST00000539111.2	-	8	1467	c.1400A>T	c.(1399-1401)cAt>cTt	p.H467L	POLG2_ENST00000582501.1_5'Flank	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	467					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTTGGATATATGCATCATTTC	0.284																																					Colon(3;18 21 435 17652 48887)												0													90	82	84					17																	62473998		2202	4297	6499	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1400A>T	17.37:g.62473998T>A	ENSP00000442563:p.His467Leu		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.H467L	ENST00000539111.2	37	c.1400	CCDS32706.1	17	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877657	0.72294	.	.	ENSG00000256525	ENST00000539111	D	0.82803	-1.65	5.76	5.76	0.90799	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.81239	2.535	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89594	0.3830	10	0.28530	T	0.3	-19.3048	16.114	0.81289	0.0:0.0:0.0:1.0	.	467	Q9UHN1	DPOG2_HUMAN	L	467	ENSP00000442563:H467L	ENSP00000442563:H467L	H	-	2	0	POLG2	59904460	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.503000	0.81632	2.213000	0.71641	0.372000	0.22366	CAT	POLG2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd		0.284	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	T	NM_007215		62473998	-1	no_errors	ENST00000539111	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62473998	T	A	62473998	3	1	75	1	0	0	0	0	1	0	0	0	12225	1464	51	5	61	5	POLG2	17	62473998	Missense_Mutation	SNP	T	TCGA-EA-A3QD-01A-32D-A22X-09	46142343	62473998	18721212	79	11912										
NPLOC4	55666	genome.wustl.edu	37	chr17	79564319	79564319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tttcgggtatcttctgagacGaggtctgtaaatatccagcc	10	9	3	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr17:79564319G>A	ENST00000331134.6	-	10	1160	c.945C>T	c.(943-945)ctC>ctT	p.L315L	NPLOC4_ENST00000374747.5_Silent_p.L315L|NPLOC4_ENST00000539314.1_Silent_p.L154L	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	315					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTTCTGAGACGAGGTCTGTAA	0.488																																																	0													116	113	114					17																	79564319		1964	4148	6112	SO:0001819	synonymous_variant	55666			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.945C>T	17.37:g.79564319G>A			Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.L315	ENST00000331134.6	37	c.945	CCDS45812.1	17																																																																																			NPLOC4	-	pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4		0.488	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	HGNC	protein_coding	OTTHUMT00000440140.1	G			79564319	-1	no_errors	ENST00000374747	ensembl	human	known	70_37	silent	SNP	0.046	A	A	79564319	G	A	79564319	2	1	75	1	0	0	0	0	0	0	0	1	10610	1045	37	1		1	NPLOC4	17	79564319	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	17090321	79564319	1630891	80	11913										
EMILIN2	84034	genome.wustl.edu	37	chr18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggatgcttgtaaggaatgcaCgcagggggtccagagggagg	19	6	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGAATGCACGCAGGGGGTC	0.577																																																	0													103	109	107					18																	2892200		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2075C>T	18.37:g.2892200C>T	ENSP00000254528:p.Thr692Met		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.T692M	ENST00000254528.3	37	c.2075	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	C	2.165	-0.391175	0.04932	.	.	ENSG00000132205	ENST00000254528	T	0.34072	1.38	5.48	0.673	0.17941	.	1.012140	0.07909	N	0.973998	T	0.27278	0.0669	N	0.25426	0.745	0.09310	N	1	B	0.29531	0.247	B	0.26094	0.066	T	0.23190	-1.0195	10	0.44086	T	0.13	-1.9919	12.4774	0.55823	0.0:0.7032:0.0:0.2968	.	692	Q9BXX0	EMIL2_HUMAN	M	692	ENSP00000254528:T692M	ENSP00000254528:T692M	T	+	2	0	EMILIN2	2882200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.676000	0.25247	-0.173000	0.10761	-1.155000	0.01812	ACG	EMILIN2	-	NULL		0.577	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	C	NM_032048		2892200	1	no_errors	ENST00000254528	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2892200	C	T	2892200	3	4	75	1	0	0	0	0	1	0	0	0	5106	536	19	2	2089	2	EMILIN2	18	2892200	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		2892200	75185048	81	11914										
MYOM1	8736	genome.wustl.edu	37	chr18	3151753	3151753	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ggctcggaaactcgagatggGaaacctattcccattttatt	9	9	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr18:3151753G>A	ENST00000356443.4	-	12	2115	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	MYOM1_ENST00000400569.3_Silent_p.F594F|MYOM1_ENST00000261606.7_Silent_p.F594F	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	594	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCGAGATGGGAAACCTATTC	0.458											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													88	89	89					18																	3151753		1908	4147	6055	SO:0001819	synonymous_variant	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1782C>T	18.37:g.3151753G>A		609	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F594	ENST00000356443.4	37	c.1782	CCDS45824.1	18																																																																																			MYOM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	G	NM_003803		3151753	-1	no_errors	ENST00000356443	ensembl	human	known	70_37	silent	SNP	0.001	A	A	3151753	G	A	3151753	2	1	75	1	0	0	0	0	0	0	0	1	10114	1165	41	1		1	MYOM1	18	3151753	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	259553	3151753	74925495	82	11915										
RPS28	6234	genome.wustl.edu	37	chr19	8386554	8386554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ctccaggtcaccaaggtcctGggcaggaccggttctcaggg	14	13	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:8386554G>A	ENST00000600659.2	+	2	85	c.54G>A	c.(52-54)ctG>ctA	p.L18L	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	18					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										CCAAGGTCCTGGGCAGGACCG	0.637																																																	0													12	14	13					19																	8386554		1887	4095	5982	SO:0001819	synonymous_variant	6234			D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"S ribosomal proteins"	10418	protein-coding gene	gene with protein product	"40S ribosomal protein S28"	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.54G>A	19.37:g.8386554G>A			P25112	Silent	SNP	pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like	p.L18	ENST00000600659.2	37	c.54	CCDS45953.1	19																																																																																			RPS28	-	pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like		0.637	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS28	HGNC	protein_coding	OTTHUMT00000461377.3	G	NM_001031		8386554	1	no_errors	ENST00000600659	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8386554	G	A	8386554	2	1	75	1	0	0	0	0	0	0	0	1	13671	1335	47	4		4	RPS28	19	8386554	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		8386554	50742429	83	11916										
CCDC105	126402	genome.wustl.edu	37	chr19	15132457	15132457	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aatatgacgttaggactgatGaggggaactatcctccggtg	13	7	0	3	rs267605313		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:15132457G>A	ENST00000292574.3	+	5	1153	c.1071G>A	c.(1069-1071)atG>atA	p.M357I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	357						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TAGGACTGATGAGGGGAACTA	0.582																																																	0													85	84	84					19																	15132457		2203	4300	6503	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1071G>A	19.37:g.15132457G>A	ENSP00000292574:p.Met357Ile		Q8N7T5|Q8NDL5	Missense_Mutation	SNP	pfam_Tektin	p.M357I	ENST00000292574.3	37	c.1071	CCDS12322.1	19	.	.	.	.	.	.	.	.	.	.	G	6.169	0.399432	0.11696	.	.	ENSG00000160994	ENST00000292574	T	0.02216	4.39	3.91	2.8	0.32819	.	0.318671	0.25540	N	0.029976	T	0.02807	0.0084	M	0.63428	1.95	0.22737	N	0.998791	P	0.38978	0.652	B	0.37780	0.258	T	0.37957	-0.9683	10	0.12103	T	0.63	-27.2454	8.7699	0.34726	0.0:0.0:0.7763:0.2237	.	357	Q8IYK2	CC105_HUMAN	I	357	ENSP00000292574:M357I	ENSP00000292574:M357I	M	+	3	0	CCDC105	14993457	1.000000	0.71417	0.991000	0.47740	0.338000	0.28826	1.707000	0.37888	2.033000	0.60031	0.549000	0.68633	ATG	CCDC105	-	pfam_Tektin		0.582	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	HGNC	protein_coding	OTTHUMT00000466293.1	G	NM_173482		15132457	1	no_errors	ENST00000292574	ensembl	human	known	70_37	missense	SNP	0.970	A	A	15132457	G	A	15132457	3	1	75	1	0	0	0	0	1	0	0	0	2745	1290	45	1	1089	1	CCDC105	19	15132457	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	6745903	15132457	43996526	84	11917										
UNC13A	23025	genome.wustl.edu	37	chr19	17759739	17759739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	accagctcctcgttgttcaaCgtgctggaggccaaggccga	12	13	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:17759739C>T	ENST00000519716.2	-	15	1577	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	UNC13A_ENST00000552293.1_Silent_p.T526T|UNC13A_ENST00000252773.7_Silent_p.T526T|UNC13A_ENST00000551649.1_Silent_p.T526T|UNC13A_ENST00000550896.1_Silent_p.T524T|UNC13A_ENST00000428389.2_Silent_p.T614T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	526					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTTGTTCAACGTGCTGGAGG	0.617																																																	0													27	32	31					19																	17759739		1996	4163	6159	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1578G>A	19.37:g.17759739C>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T614	ENST00000519716.2	37	c.1842	CCDS46013.2	19																																																																																			UNC13A	-	NULL		0.617	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	C	XM_038604		17759739	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	0.273	T	T	17759739	C	T	17759739	2	4	75	1	0	0	0	0	0	0	0	1	17015	523	19	2		2	UNC13A	19	17759739	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	2627282	17759739	41369244	85	11918										
JAK3	3718	genome.wustl.edu	37	chr19	17942593	17942593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	caggtactccatgaccagccGcaggctctggcggcctggag	14	14	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:17942593G>A	ENST00000527670.1	-	19	2724	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	JAK3_ENST00000534444.1_Missense_Mutation_p.R899W|JAK3_ENST00000458235.1_Missense_Mutation_p.R899W			P52333	JAK3_HUMAN	Janus kinase 3	899	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ATGACCAGCCGCAGGCTCTGG	0.667		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													17	21	20					19																	17942593		2169	4247	6416	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2695C>T	19.37:g.17942593G>A	ENSP00000432511:p.Arg899Trp		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R899W	ENST00000527670.1	37	c.2695	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572394	0.65765	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.88818	0.09;0.09;-2.43	2.63	2.63	0.31362	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.413514	0.24336	N	0.039409	D	0.87462	0.6183	N	0.11789	0.175	0.41542	D	0.988528	P;D	0.89917	0.831;1.0	P;D	0.80764	0.512;0.994	D	0.88643	0.3177	10	0.87932	D	0	-28.0207	11.4253	0.50007	0.0:0.0:1.0:0.0	.	899;899	P52333-2;P52333	.;JAK3_HUMAN	W	899	ENSP00000391676:R899W;ENSP00000432511:R899W;ENSP00000436421:R899W	ENSP00000391676:R899W	R	-	1	2	JAK3	17803593	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.233000	0.43027	1.799000	0.52666	0.462000	0.41574	CGG	JAK3	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2		0.667	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	G	NM_000215		17942593	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17942593	G	A	17942593	3	1	75	1	0	0	0	0	1	0	0	0	7959	1086	38	2	699	2	JAK3	19	17942593	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	182854	17942593	41186390	86	11919										
SPTBN4	57731	genome.wustl.edu	37	chr19	40998873	40998873	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tttttgtatcttcacagattCaagtcatcaaaattgagact	5	7	5	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:40998873C>T	ENST00000352632.3	+	5	585	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.Q167*|SPTBN4_ENST00000344104.3_Nonsense_Mutation_p.Q167*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.Q167*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.Q167*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	167	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCACAGATTCAAGTCATCAA	0.522																																																	0													81	69	73					19																	40998873		2203	4300	6503	SO:0001587	stop_gained	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.499C>T	19.37:g.40998873C>T	ENSP00000263373:p.Gln167*		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q167*	ENST00000352632.3	37	c.499	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.022746	0.97211	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	3.82	3.82	0.43975	.	1.463730	0.05474	U	0.553556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6764	0.68983	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000340345:Q167X	Q	+	1	0	SPTBN4	45690713	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.571000	0.82399	1.980000	0.57719	0.281000	0.19383	CAA	SPTBN4	-	pirsf_Spectrin_bsu,superfamily_CH-domain		0.522	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	C			40998873	1	no_errors	ENST00000352632	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	40998873	C	T	40998873	4	4	75	1	0	0	0	0	0	1	0	0	15151	827	29	1	513	1	SPTBN4	19	40998873	Nonsense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	23056280	40998873	18130110	87	11920										
CEACAM7	1087	genome.wustl.edu	37	chr19	42191081	42191081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aaggacctccttcccttctgCgacattgaacggcacgacat	8	14	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:42191081C>T	ENST00000006724.3	-	2	337	c.136G>A	c.(136-138)Gca>Aca	p.A46T	CEACAM7_ENST00000401731.1_Missense_Mutation_p.A46T|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.A46T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A46T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	46	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTCCCTTCTGCGACATTGAAC	0.478																																																	0													111	108	109					19																	42191081		2203	4300	6503	SO:0001583	missense	1087			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.136G>A	19.37:g.42191081C>T	ENSP00000006724:p.Ala46Thr		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.A46T	ENST00000006724.3	37	c.136	CCDS12583.1	19	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474545	0.43942	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.67865	-0.29;-0.29;-0.29	1.68	1.68	0.24146	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74419	0.3714	M	0.77820	2.39	0.09310	N	1	P;D	0.55605	0.697;0.972	B;P	0.57152	0.181;0.814	T	0.61724	-0.7004	9	0.59425	D	0.04	.	6.8117	0.23809	0.0:1.0:0.0:0.0	.	46;46	Q14002-2;Q14002	.;CEAM7_HUMAN	T	46	ENSP00000006724:A46T;ENSP00000385932:A46T;ENSP00000343286:A46T	ENSP00000006724:A46T	A	-	1	0	CEACAM7	46882921	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.014000	0.12656	1.235000	0.43724	0.313000	0.20887	GCA	CEACAM7	-	pfam_Ig_V-set,smart_Ig_sub		0.478	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM7	HGNC	protein_coding	OTTHUMT00000321145.1	C	NM_006890		42191081	-1	no_errors	ENST00000006724	ensembl	human	known	70_37	missense	SNP	0.003	T	T	42191081	C	T	42191081	3	4	75	1	0	0	0	0	1	0	0	0	3202	768	27	2	673	2	CEACAM7	19	42191081	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	1192208	42191081	16937902	88	11921										
ATP1A3	478	genome.wustl.edu	37	chr19	42479784	42479784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	acccctggccaactcaccctCctccacccctgtgacgatgg	7	20	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:42479784C>T	ENST00000302102.5	-	16	2410	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	ATP1A3_ENST00000545399.1_Missense_Mutation_p.E767K|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E724K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E765K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	754					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AACTCACCCTCCTCCACCCCT	0.642																																																	0													84	61	69					19																	42479784		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2260G>A	19.37:g.42479784C>T	ENSP00000302397:p.Glu754Lys		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E754K	ENST00000302102.5	37	c.2260	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420549	0.62622	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95756	-3.69;-3.8;-3.7;-3.69	4.31	4.31	0.51392	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.96460	3.825	0.80722	D	1	D;B;P;B	0.53619	0.961;0.097;0.468;0.024	P;B;P;B	0.60236	0.871;0.316;0.46;0.168	D	0.99110	1.0846	10	0.87932	D	0	.	14.7003	0.69152	0.0:1.0:0.0:0.0	.	767;765;754;754	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	754;754;767;724;498;765	ENSP00000302397:E754K;ENSP00000411503:E754K;ENSP00000444688:E767K;ENSP00000437577:E765K	ENSP00000302397:E754K	E	-	1	0	ATP1A3	47171624	1.000000	0.71417	0.993000	0.49108	0.317000	0.28152	7.625000	0.83145	2.409000	0.81822	0.462000	0.41574	GAG	ATP1A3	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.642	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	C	NM_152296		42479784	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42479784	C	T	42479784	3	4	75	1	0	0	0	0	1	0	0	0	1131	864	30	1	813	1	ATP1A3	19	42479784	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	288703	42479784	16649199	89	11922										
RUVBL2	10856	genome.wustl.edu	37	chr19	49518398	49518398	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gctgccagcttggtgtgccgGaaacgcaaggtcagccggcc	15	13	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:49518398G>C	ENST00000595090.1	+	13	1706	c.1242G>C	c.(1240-1242)cgG>cgC	p.R414R	RUVBL2_ENST00000413176.2_Silent_p.R369R|RUVBL2_ENST00000601968.1_Intron	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	414					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGGTGTGCCGGAAACGCAAGG	0.602																																																	0													18	21	20					19																	49518398		2132	4235	6367	SO:0001819	synonymous_variant	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1242G>C	19.37:g.49518398G>C			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.R414	ENST00000595090.1	37	c.1242	CCDS42588.1	19																																																																																			RUVBL2	-	NULL		0.602	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1	G			49518398	1	no_errors	ENST00000595090	ensembl	human	known	70_37	silent	SNP	1.000	C	C	49518398	G	C	49518398	2	2	75	1	0	0	0	0	0	0	0	1	13783	1161	41	1		1	RUVBL2	19	49518398	Silent	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	7038614	49518398	9610585	90	11923										
PRPF31	26121	genome.wustl.edu	37	chr19	54629910	54629910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tccgttgctccaggatctgcGgcggaaagcggcccggctgg	16	13	1	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:54629910G>A	ENST00000321030.4	+	9	1212	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.R288Q|PRPF31_ENST00000391755.1_Missense_Mutation_p.R288Q|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	288	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGATCTGCGGCGGAAAGCG	0.612																																																	0													24	26	25					19																	54629910		2202	4299	6501	SO:0001583	missense	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.863G>A	19.37:g.54629910G>A	ENSP00000324122:p.Arg288Gln		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC	p.R288Q	ENST00000321030.4	37	c.863	CCDS12879.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.089486	0.94149	.	.	ENSG00000105618	ENST00000321030;ENST00000263436;ENST00000419967;ENST00000391755	T;T;T	0.80214	-1.35;-1.35;-1.35	5.56	5.56	0.83823	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.052425	0.85682	D	0.000000	D	0.88742	0.6519	M	0.81341	2.54	0.51767	D	0.999934	D;D	0.89917	1.0;0.998	D;P	0.72625	0.978;0.904	D	0.88459	0.3054	10	0.49607	T	0.09	-43.3866	12.0825	0.53680	0.0799:0.0:0.9201:0.0	.	288;288	E7ESA8;Q8WWY3	.;PRP31_HUMAN	Q	288	ENSP00000324122:R288Q;ENSP00000405166:R288Q;ENSP00000375635:R288Q	ENSP00000263436:R288Q	R	+	2	0	PRPF31	59321722	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.116000	0.77119	2.782000	0.95742	0.655000	0.94253	CGG	PRPF31	-	pfam_SnoRNA-bd_dom		0.612	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF31	HGNC	protein_coding	OTTHUMT00000141417.2	G			54629910	1	no_errors	ENST00000321030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54629910	G	A	54629910	3	1	75	1	0	0	0	0	1	0	0	0	12593	1116	39	2	893	2	PRPF31	19	54629910	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	5111512	54629910	4499073	91	11924										
KIR3DL3	115653	genome.wustl.edu	37	chr19	55239168	55239168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	caatgttggtcagatgtcagGtttgagcgcttccttctgca	11	9	3	2	rs62132665	byFrequency	TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr19:55239168G>T	ENST00000291860.1	+	4	465	c.447G>T	c.(445-447)agG>agT	p.R149S	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	149	Ig-like C2-type 2. {ECO:0000305}.		R -> S (in allele KIR3DL3*00601, allele KIR3DL3*00602, allele KIR3DL3*01501 and allele KIR3DL3*01601; dbSNP:rs62132665).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CAGATGTCAGGTTTGAGCGCT	0.567													.|||	535	0.106829	0.0719	0.0692	5008	,	,		10666	0.1786		0.1054	False		,,,				2504	0.1084																0								G	SER/ARG	261,3657		59,143,1757	46	38	41		447	-2.8	0	19	dbSNP_129	41	983,5701		327,329,2686	no	missense	KIR3DL3	NM_153443.3	110	386,472,4443	TT,TG,GG		14.7068,6.6616,11.7336	benign	149/411	55239168	1244,9358	1959	3342	5301	SO:0001583	missense	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.447G>T	19.37:g.55239168G>T	ENSP00000291860:p.Arg149Ser		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2	p.R149S	ENST00000291860.1	37	c.447	CCDS12903.1	19	.	.	.	.	.	.	.	.	.	.	N	6.031	0.374095	0.11409	0.066616	0.147068	ENSG00000242019	ENST00000291860	T	0.02656	4.21	1.38	-2.75	0.05914	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.964280	0.02169	U	0.059553	T	0.00012	0.0000	N	0.16037	0.36	0.80722	P	0.0	B	0.21381	0.055	B	0.23574	0.047	T	0.45249	-0.9274	9	0.46703	T	0.11	.	2.8595	0.05582	0.3742:0.2446:0.3813:0.0	rs62132665	149	Q8N743	KI3L3_HUMAN	S	149	ENSP00000291860:R149S	ENSP00000291860:R149S	R	+	3	2	KIR3DL3	59930980	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.406000	0.07187	-0.983000	0.03511	0.205000	0.17691	AGG	KIR3DL3	-	smart_Ig_sub		0.567	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIR3DL3	HGNC	protein_coding	OTTHUMT00000141147.1	G	NM_153443		55239168	1	no_errors	ENST00000291860	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55239168	G	T	55239168	3	4	75	1	0	0	0	0	1	0	0	0	8342	1252	44	4	461	4	KIR3DL3	19	55239168	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	609258	55239168	3889815	92	11925										
NCOA6	23054	genome.wustl.edu	37	chr20	33345195	33345195	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tgaggtggccttggtcccatCtgctgctgagtttggttaac	13	9	1	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr20:33345195C>T	ENST00000374796.2	-	8	3926	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	NCOA6_ENST00000359003.2_Silent_p.Q452Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	452	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGGTCCCATCTGCTGCTGAG	0.572																																																	0													100	106	104					20																	33345195		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1356G>A	20.37:g.33345195C>T			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.Q452	ENST00000374796.2	37	c.1356	CCDS13241.1	20																																																																																			NCOA6	-	NULL		0.572	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	C	NM_014071		33345195	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33345195	C	T	33345195	2	4	75	1	0	0	0	0	0	0	0	1	10257	912	32	1		1	NCOA6	20	33345195	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		33345195	29680325	93	11926										
SERINC3	10955	genome.wustl.edu	37	chr20	43132618	43132618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gtgtaataaagctcatcaggTtgggattgcaggaacgatct	12	6	3	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr20:43132618T>C	ENST00000342374.4	-	8	1050	c.893A>G	c.(892-894)aAc>aGc	p.N298S	SERINC3_ENST00000541235.1_Missense_Mutation_p.N243S|SERINC3_ENST00000255175.1_Missense_Mutation_p.N298S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	298					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCTCATCAGGTTGGGATTGCA	0.443																																																	0													118	117	118					20																	43132618		2203	4300	6503	SO:0001583	missense	10955			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.893A>G	20.37:g.43132618T>C	ENSP00000340243:p.Asn298Ser		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.N298S	ENST00000342374.4	37	c.893	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	T	1.472	-0.559433	0.03967	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.24	2.03	0.26663	.	0.311100	0.42821	N	0.000643	T	0.02193	0.0068	N	0.00085	-2.2	0.21822	N	0.999529	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44772	-0.9306	10	0.08381	T	0.77	.	10.5669	0.45177	0.0:0.6189:0.3108:0.0703	.	298;298	Q53GK8;Q13530	.;SERC3_HUMAN	S	37;298;298;265;243	ENSP00000414197:N37S;ENSP00000255175:N298S;ENSP00000340243:N298S;ENSP00000440966:N243S	ENSP00000255175:N298S	N	-	2	0	SERINC3	42566032	0.979000	0.34478	0.216000	0.23742	0.775000	0.43874	1.154000	0.31688	0.263000	0.21812	-0.132000	0.14878	AAC	SERINC3	-	pfam_TMS_TDE		0.443	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	T	NM_006811		43132618	-1	no_errors	ENST00000255175	ensembl	human	known	70_37	missense	SNP	0.892	C	C	43132618	T	C	43132618	3	2	75	1	0	0	0	0	1	0	0	0	14111	1725	60	5	540	5	SERINC3	20	43132618	Missense_Mutation	SNP	T	TCGA-EA-A3QD-01A-32D-A22X-09	9787423	43132618	19892902	94	11927										
ZNF512B	57473	genome.wustl.edu	37	chr20	62595998	62595998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	agctctggcccatggaggagGggccgtactccccattctct	12	14	2	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr20:62595998G>A	ENST00000450537.1	-	6	1166	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P369L|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P369L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CATGGAGGAGGGGCCGTACTC	0.672																																																	0													64	57	60					20																	62595998		2203	4300	6503	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1106C>T	20.37:g.62595998G>A	ENSP00000393795:p.Pro369Leu		Q08AK9|Q9ULM4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P369L	ENST00000450537.1	37	c.1106	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086454	0.20390	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.23552	1.9;1.9;1.9	5.55	4.51	0.55191	.	0.545691	0.18918	N	0.127550	T	0.18635	0.0447	L	0.34521	1.04	0.49051	D	0.999745	B	0.06786	0.001	B	0.06405	0.002	T	0.04946	-1.0916	10	0.52906	T	0.07	-3.121	7.9368	0.29935	0.1841:0.0:0.8159:0.0	.	369	Q96KM6	Z512B_HUMAN	L	369	ENSP00000358904:P369L;ENSP00000393795:P369L;ENSP00000217130:P369L	ENSP00000217130:P369L	P	-	2	0	ZNF512B	62066442	0.790000	0.28787	0.289000	0.24876	0.146000	0.21551	2.635000	0.46537	2.608000	0.88229	0.591000	0.81541	CCC	ZNF512B	-	NULL		0.672	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	G	NM_020713		62595998	-1	no_errors	ENST00000217130	ensembl	human	known	70_37	missense	SNP	0.747	A	A	62595998	G	A	62595998	3	1	75	1	0	0	0	0	1	0	0	0	17987	1232	43	4	1620	4	ZNF512B	20	62595998	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	19463380	62595998	429522	95	11928										
SLC5A4	6527	genome.wustl.edu	37	chr22	32630960	32630960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	catctcggaagatgtggaagGagtccgcccgaggtgtgtag	16	8	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr22:32630960G>A	ENST00000266086.4	-	8	796	c.785C>T	c.(784-786)tCc>tTc	p.S262F	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	262					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATGTGGAAGGAGTCCGCCCG	0.507																																																	0													211	190	197					22																	32630960		2203	4300	6503	SO:0001583	missense	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.785C>T	22.37:g.32630960G>A	ENSP00000266086:p.Ser262Phe		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.S262F	ENST00000266086.4	37	c.785	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	.	11.67	1.708442	0.30322	.	.	ENSG00000100191	ENST00000266086	D	0.89415	-2.51	4.78	3.77	0.43336	.	0.158922	0.64402	D	0.000017	D	0.85191	0.5640	L	0.47016	1.485	0.58432	D	0.999998	B	0.09022	0.002	B	0.23716	0.048	T	0.82954	-0.0201	10	0.87932	D	0	.	11.0399	0.47825	0.0912:0.0:0.9088:0.0	.	262	Q9NY91	SC5A4_HUMAN	F	262	ENSP00000266086:S262F	ENSP00000266086:S262F	S	-	2	0	SLC5A4	30960960	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	9.523000	0.98034	1.385000	0.46445	0.650000	0.86243	TCC	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.507	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	G	NM_014227		32630960	-1	no_errors	ENST00000266086	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32630960	G	A	32630960	3	1	75	1	0	0	0	0	1	0	0	0	14697	1174	41	1	1226	1	SLC5A4	22	32630960	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09		32630960	18673606	96	11929										
EP300	2033	genome.wustl.edu	37	chr22	41564513	41564513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tgtgaatgactttctgaggcGacagaatcaccctgagtcag	11	9	3	5			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chr22:41564513G>A	ENST00000263253.7	+	24	5154	c.3935G>A	c.(3934-3936)cGa>cAa	p.R1312Q	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1312	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTCTGAGGCGACAGAATCAC	0.433			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													125	117	119					22																	41564513		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3935G>A	22.37:g.41564513G>A	ENSP00000263253:p.Arg1312Gln		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1312Q	ENST00000263253.7	37	c.3935	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.316077	0.95655	.	.	ENSG00000100393	ENST00000263253	D	0.93076	-3.16	5.75	5.75	0.90469	.	0.000000	0.40818	N	0.001006	D	0.96182	0.8755	M	0.63428	1.95	0.52099	D	0.999944	D	0.89917	1.0	D	0.87578	0.998	D	0.94986	0.8130	10	0.38643	T	0.18	-9.3062	19.9535	0.97211	0.0:0.0:1.0:0.0	.	1312	Q09472	EP300_HUMAN	Q	1312	ENSP00000263253:R1312Q	ENSP00000263253:R1312Q	R	+	2	0	EP300	39894459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.710000	0.92621	0.557000	0.71058	CGA	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.433	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41564513	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41564513	G	A	41564513	3	1	75	1	0	0	0	0	1	0	0	0	5160	1058	37	1	4029	1	EP300	22	41564513	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	8933553	41564513	9740053	97	11930										
TAB3	257397	genome.wustl.edu	37	chrX	30864732	30864732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tttatctggagttgtctgttCatgcttctcaatcttgtcat	7	8	6	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:30864732C>G	ENST00000378933.1	-	5	1917	c.1740G>C	c.(1738-1740)atG>atC	p.M580I	TAB3_ENST00000378932.2_Missense_Mutation_p.M580I|TAB3_ENST00000378930.3_Missense_Mutation_p.M580I|TAB3_ENST00000288422.2_Missense_Mutation_p.M580I|TAB3_ENST00000378928.1_Missense_Mutation_p.M31I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	580					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTTGTCTGTTCATGCTTCTCA	0.368																																					Pancreas(164;1598 1985 29022 43301 49529)												0													204	169	181					X																	30864732		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1740G>C	X.37:g.30864732C>G	ENSP00000368215:p.Met580Ile		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.M580I	ENST00000378933.1	37	c.1740	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	7.308	0.614339	0.14129	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.23	4.31	0.51392	.	0.303387	0.36628	N	0.002483	T	0.44180	0.1281	N	0.03608	-0.345	0.26949	N	0.966078	B;B	0.11235	0.0;0.004	B;B	0.08055	0.001;0.003	T	0.23762	-1.0179	10	0.21014	T	0.42	-0.495	10.5203	0.44914	0.1373:0.7139:0.1488:0.0	.	580;580	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	580;580;580;580;31	ENSP00000368215:M580I;ENSP00000368212:M580I;ENSP00000288422:M580I;ENSP00000368214:M580I	ENSP00000288422:M580I	M	-	3	0	TAB3	30774653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.707000	0.25704	2.186000	0.69663	0.538000	0.68166	ATG	TAB3	-	NULL		0.368	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	C	NM_152787		30864732	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30864732	C	G	30864732	3	3	75	1	0	0	0	0	1	0	0	0	15527	826	29	1	414	1	TAB3	23	30864732	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09		30864732	124405828	98	11931										
ZNF182	7569	genome.wustl.edu	37	chrX	47835797	47835797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tagggtttctctcccgtgtgCgttctctgatgtattatgag	11	8	2	2	rs146981847		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:47835797C>T	ENST00000396965.1	-	7	2039	c.1689G>A	c.(1687-1689)acG>acA	p.T563T	ZNF182_ENST00000376943.3_Silent_p.T544T|ZNF182_ENST00000305127.6_Silent_p.T563T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTCCCGTGTGCGTTCTCTGAT	0.423																																																	0								C	,,	1,3834		0,1,1631,571	122	103	110		1632,1689,1689	-4.9	1	X	dbSNP_134	110	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF182	NM_001007088.1,NM_001178099.1,NM_006962.1	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	544/621,563/640,563/640	47835797	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1689G>A	X.37:g.47835797C>T			A2IDD7|Q3KP67|Q96QH7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T563	ENST00000396965.1	37	c.1689	CCDS35236.1	X																																																																																			ZNF182	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	C	NM_006962		47835797	-1	no_errors	ENST00000305127	ensembl	human	known	70_37	silent	SNP	0.745	T	T	47835797	C	T	47835797	2	4	75	1	0	0	0	0	0	0	0	1	17780	755	27	2		2	ZNF182	23	47835797	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	16971065	47835797	107434763	99	11932										
ERAS	3266	genome.wustl.edu	37	chrX	48688086	48688086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tggagacctcggccaaaacaCggcaaggcgtggaggaggcc	16	11	0	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:48688086C>T	ENST00000338270.1	+	1	804	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	185					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R185W(1)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GGCCAAAACACGGCAAGGCGT	0.622																																																	1	Substitution - Missense(1)	lung(1)											30	26	28					X																	48688086		2200	4298	6498	SO:0001583	missense	3266			X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.553C>T	X.37:g.48688086C>T	ENSP00000339136:p.Arg185Trp			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R185W	ENST00000338270.1	37	c.553	CCDS35246.1	X	.	.	.	.	.	.	.	.	.	.	c	13.24	2.179058	0.38511	.	.	ENSG00000187682	ENST00000338270	T	0.70631	-0.5	4.66	3.8	0.43715	Small GTP-binding protein domain (1);	0.228600	0.22687	N	0.056872	T	0.71022	0.3291	M	0.90198	3.095	0.09310	N	0.999992	P	0.40638	0.725	B	0.32677	0.15	T	0.69450	-0.5142	10	0.87932	D	0	.	9.8114	0.40826	0.0:0.8976:0.0:0.1024	.	185	Q7Z444	RASE_HUMAN	W	185	ENSP00000339136:R185W	ENSP00000339136:R185W	R	+	1	2	ERAS	48573030	0.000000	0.05858	0.228000	0.23943	0.491000	0.33493	-0.369000	0.07533	1.106000	0.41623	0.597000	0.82753	CGG	ERAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.622	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAS	HGNC	protein_coding	OTTHUMT00000132402.1	C	NM_181532		48688086	1	no_errors	ENST00000338270	ensembl	human	known	70_37	missense	SNP	0.007	T	T	48688086	C	T	48688086	3	4	75	1	0	0	0	0	1	0	0	0	5217	527	19	2	555	2	ERAS	23	48688086	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	852289	48688086	106582474	100	11933										
CCDC22	28952	genome.wustl.edu	37	chrX	49105663	49105663	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	aaggagcttcagaaggaaatCaactccctatctgggaagct	10	9	3	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:49105663C>T	ENST00000376227.3	+	14	1745	c.1575C>T	c.(1573-1575)atC>atT	p.I525I		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	525										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGAAGGAAATCAACTCCCTAT	0.597																																																	0													73	60	64					X																	49105663		2203	4300	6503	SO:0001819	synonymous_variant	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1575C>T	X.37:g.49105663C>T			A8K7G1	Silent	SNP	pfam_DUF812	p.I525	ENST00000376227.3	37	c.1575	CCDS14322.1	X																																																																																			CCDC22	-	pfam_DUF812		0.597	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	C	NM_014008		49105663	1	no_errors	ENST00000376227	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49105663	C	T	49105663	2	4	75	1	0	0	0	0	0	0	0	1	2802	816	29	1		1	CCDC22	23	49105663	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	417577	49105663	106164897	101	11934										
MSN	4478	genome.wustl.edu	37	chrX	64953115	64953115	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	ttcaatgataagaaatttgtCatcaagcccattgacaaaaa	5	7	3	3	rs184924480		TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:64953115C>T	ENST00000360270.5	+	7	940	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	256	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGAAATTTGTCATCAAGCCCA	0.428			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													100	91	94					X																	64953115		2203	4300	6503	SO:0001819	synonymous_variant	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.768C>T	X.37:g.64953115C>T				Silent	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.V256	ENST00000360270.5	37	c.768	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain		0.428	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	C	NM_002444		64953115	1	no_errors	ENST00000360270	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64953115	C	T	64953115	2	4	75	1	0	0	0	0	0	0	0	1	9908	813	29	1		1	MSN	23	64953115	Silent	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	15847452	64953115	90317445	102	11935										
IL1RAPL2	26280	genome.wustl.edu	37	chrX	104961411	104961411	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	cttcggattcagtggagagtCtgggccaatgatctactgga	13	8	3	2			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:104961411C>G	ENST00000372582.1	+	7	1580	c.824C>G	c.(823-825)tCt>tGt	p.S275C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S275C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	275	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTGGAGAGTCTGGGCCAATG	0.413																																																	0													169	158	162					X																	104961411		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.824C>G	X.37:g.104961411C>G	ENSP00000361663:p.Ser275Cys		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.S275C	ENST00000372582.1	37	c.824	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343550	0.61073	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.78003	-1.14;-1.14	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.86112	0.5855	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.85289	0.1066	10	0.36615	T	0.2	.	16.8989	0.86108	0.0:1.0:0.0:0.0	.	275	Q9NP60	IRPL2_HUMAN	C	275	ENSP00000361663:S275C;ENSP00000344976:S275C	ENSP00000344976:S275C	S	+	2	0	IL1RAPL2	104848067	0.997000	0.39634	0.999000	0.59377	0.975000	0.68041	3.649000	0.54417	2.197000	0.70478	0.506000	0.49869	TCT	IL1RAPL2	-	smart_Ig_sub,pfscan_Ig-like		0.413	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	C	NM_017416		104961411	1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	0.990	G	G	104961411	C	G	104961411	3	3	75	1	0	0	0	0	1	0	0	0	7682	913	32	1	846	1	IL1RAPL2	23	104961411	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	40008296	104961411	50309149	103	11936										
COL4A5	1287	genome.wustl.edu	37	chrX	107920734	107920734	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gctgtggattattaaggtctAccaggtccagaaggtcctcc	11	10	1	1			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:107920734A>T	ENST00000361603.2	+	42	4039	c.3795A>T	c.(3793-3795)ctA>ctT	p.L1265L	COL4A5_ENST00000328300.6_Silent_p.L1271L|Y_RNA_ENST00000384417.1_RNA	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1265	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.L1265L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTAAGGTCTACCAGGTCCAG	0.433									Alport syndrome with Diffuse Leiomyomatosis																																								1	Substitution - coding silent(1)	prostate(1)											105	89	94					X																	107920734		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3795A>T	X.37:g.107920734A>T			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L1271	ENST00000361603.2	37	c.3813	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen		0.433	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	A			107920734	1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	0.937	T	T	107920734	A	T	107920734	2	4	75	1	0	0	0	0	0	0	0	1	3699	378	14	5		5	COL4A5	23	107920734	Silent	SNP	A	TCGA-EA-A3QD-01A-32D-A22X-09	2959323	107920734	47349826	104	11937										
MAP7D3	79649	genome.wustl.edu	37	chrX	135313040	135313040	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	gaccacaagcattttcaggaGatgatgaccatttataacac	7	9	1	3			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:135313040G>C	ENST00000316077.9	-	9	1719	c.1499C>G	c.(1498-1500)tCt>tGt	p.S500C	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S482C|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S465C	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	500					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.S797Y(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCAGGAGATGATGACCA	0.408																																																	1	Substitution - Missense(1)	lung(1)											166	147	153					X																	135313040		1989	4155	6144	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1499C>G	X.37:g.135313040G>C	ENSP00000318086:p.Ser500Cys		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.S482C	ENST00000316077.9	37	c.1445	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	g	15.59	2.878531	0.51801	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.06068	4.19;3.65;3.65;3.35	4.89	4.89	0.63831	.	0.270116	0.19941	N	0.102655	T	0.18341	0.0440	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.02009	-1.1230	10	0.72032	D	0.01	-18.9232	12.4998	0.55950	0.0:0.0:1.0:0.0	.	482;459;500;465	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	C	465;500;482;459	ENSP00000359695:S465C;ENSP00000318086:S500C;ENSP00000359697:S482C;ENSP00000359694:S459C	ENSP00000318086:S500C	S	-	2	0	MAP7D3	135140706	0.916000	0.31088	0.008000	0.14137	0.007000	0.05969	4.947000	0.63583	2.000000	0.58554	0.597000	0.82753	TCT	MAP7D3	-	NULL		0.408	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	G			135313040	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.036	C	C	135313040	G	C	135313040	3	2	75	1	0	0	0	0	1	0	0	0	9292	942	33	1	1171	1	MAP7D3	23	135313040	Missense_Mutation	SNP	G	TCGA-EA-A3QD-01A-32D-A22X-09	27392306	135313040	19957520	105	11938										
ATP6AP1	537	genome.wustl.edu	37	chrX	153657145	153657145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	45	2.6979929236666e-14	3.44814241486068	5.51702786377709	3.15258735072977	3.40623043609189e-08	8.26010880752283e-07	32	tttgtcgttggcggcggcggCggcggcggcagcggcggagc	22	11	0	0			TCGA-EA-A3QD-01A-32D-A22X-09	TCGA-EA-A3QD-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af4a9109-60a7-4fb5-8ea3-b5251f608b3c	1ec975a5-140e-40f6-8797-4b86e5ce058b	g.chrX:153657145C>T	ENST00000369762.2	+	1	168	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	36					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					gcggcggcggcggcggcggca	0.756											OREG0003604	type=REGULATORY REGION|Gene=BC009467|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													3	6	5					X																	153657145		1058	2204	3262	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.107C>T	X.37:g.153657145C>T	ENSP00000358777:p.Ala36Val	1757	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	pfam_BIG/ATPase_V1_suS1	p.A36V	ENST00000369762.2	37	c.107	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	c	10.89	1.479698	0.26511	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556	.	.	.	5.17	-2.81	0.05805	.	0.522077	0.19584	N	0.110779	T	0.23532	0.0569	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26018	-1.0115	9	0.14252	T	0.57	-2.3347	6.2774	0.20989	0.1444:0.2443:0.0:0.6113	.	36	Q15904	VAS1_HUMAN	V	36	.	ENSP00000358777:A36V	A	+	2	0	ATP6AP1	153310339	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.037000	0.30241	-1.038000	0.03279	-0.305000	0.09177	GCG	ATP6AP1	-	NULL		0.756	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	C	NM_001183		153657145	1	no_errors	ENST00000369762	ensembl	human	known	70_37	missense	SNP	0.000	T	T	153657145	C	T	153657145	3	4	75	1	0	0	0	0	1	0	0	0	1166	768	27	2	109	2	ATP6AP1	23	153657145	Missense_Mutation	SNP	C	TCGA-EA-A3QD-01A-32D-A22X-09	18344105	153657145	1613415	106	11939										
TAS1R1	80835	genome.wustl.edu	37	chr1	6638780	6638780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ggaagccagacctgcttcccGcgcactgtggtgtttttggc	13	12	0	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:6638780G>A	ENST00000333172.6	+	6	1855	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	TAS1R1_ENST00000328191.4_Missense_Mutation_p.R443H|ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.P300P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	554					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGCTTCCCGCGCACTGTGG	0.587																																																	0													72	69	70					1																	6638780		2203	4300	6503	SO:0001819	synonymous_variant	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1662G>A	1.37:g.6638780G>A			B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	p.R443H	ENST00000333172.6	37	c.1328	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339547|0.339547	0.11069|0.11069	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000328191	.|D	.|0.92048	.|-2.96	5.04|5.04	-7.8|-7.8	0.01214|0.01214	.|.	.|.	.|.	.|.	.|.	T|T	0.76842|0.76842	0.4044|0.4044	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.65471|0.65471	-0.6160|-0.6160	4|8	.|0.13108	.|T	.|0.6	.|.	3.3324|3.3324	0.07089|0.07089	0.3407:0.343:0.2309:0.0854|0.3407:0.343:0.2309:0.0854	.|.	.|443	.|Q7RTX1-3	.|.	T|H	369|443	.|ENSP00000327705:R443H	.|ENSP00000327705:R443H	A|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6561367|6561367	0.000000|0.000000	0.05858|0.05858	0.686000|0.686000	0.30086|0.30086	0.406000|0.406000	0.30931|0.30931	-0.864000|-0.864000	0.04254|0.04254	-0.709000|-0.709000	0.05008|0.05008	-1.044000|-1.044000	0.02363|0.02363	GCG|CGC	TAS1R1	-	NULL		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	G			6638780	1	no_errors	ENST00000328191	ensembl	human	known	70_37	missense	SNP	0.022	A	A	6638780	G	A	6638780	2	1	76	1	0	0	0	0	0	0	0	1	15592	1087	38	2		2	TAS1R1	1	6638780	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		6638780	242611841	1	11940										
BAI2	576	genome.wustl.edu	37	chr1	32210276	32210276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cgccatgtatagcccaggctCatctgcagacctcggccact	9	16	2	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:32210276C>T	ENST00000373658.3	-	5	1236	c.895G>A	c.(895-897)Gag>Aag	p.E299K	BAI2_ENST00000527361.1_Missense_Mutation_p.E299K|BAI2_ENST00000398542.1_Missense_Mutation_p.E287K|BAI2_ENST00000398547.1_Missense_Mutation_p.E287K|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.E299K|BAI2_ENST00000398538.1_Missense_Mutation_p.E287K|BAI2_ENST00000398556.3_Missense_Mutation_p.E302K|BAI2_ENST00000373655.2_Missense_Mutation_p.E299K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	299					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCCCAGGCTCATCTGCAGAC	0.632																																																	0													107	90	96					1																	32210276		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.895G>A	1.37:g.32210276C>T	ENSP00000362762:p.Glu299Lys		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E299K	ENST00000373658.3	37	c.895	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928683	0.73327	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44482	1.56;1.76;0.96;0.96;1.92;0.92;0.92;0.99;1.53;1.41	4.72	4.72	0.59763	.	0.000000	0.34531	N	0.003881	T	0.47266	0.1436	N	0.24115	0.695	0.80722	D	1	D;D;P;P;B;P	0.55172	0.97;0.968;0.732;0.613;0.104;0.613	P;P;P;B;B;B	0.61201	0.471;0.885;0.458;0.358;0.237;0.358	T	0.47249	-0.9132	10	0.49607	T	0.09	.	14.9787	0.71296	0.0:1.0:0.0:0.0	.	287;299;287;287;299;299	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	K	302;287;299;299;287;299;299;287;292;333	ENSP00000381564:E302K;ENSP00000381555:E287K;ENSP00000362762:E299K;ENSP00000362759:E299K;ENSP00000381550:E287K;ENSP00000257070:E299K;ENSP00000435397:E299K;ENSP00000381548:E287K;ENSP00000410921:E292K;ENSP00000437219:E333K	ENSP00000257070:E299K	E	-	1	0	BAI2	31982863	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.044000	0.57361	2.347000	0.79759	0.313000	0.20887	GAG	BAI2	-	NULL		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32210276	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32210276	C	T	32210276	3	4	76	1	0	0	0	0	1	0	0	0	1300	835	29	1	3978	1	BAI2	1	32210276	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	25571496	32210276	217040345	2	11941										
LRRC8D	55144	genome.wustl.edu	37	chr1	90400768	90400768	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cttggagtcactttatttctCtaacaacaagctcgaatcct	5	11	2	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:90400768C>T	ENST00000337338.5	+	3	2548	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S714F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	714					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CTTTATTTCTCTAACAACAAG	0.338																																																	0													69	73	72					1																	90400768		2203	4299	6502	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2141C>T	1.37:g.90400768C>T	ENSP00000338887:p.Ser714Phe		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S714F	ENST00000337338.5	37	c.2141	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553361	0.65425	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.12569	2.67;2.67	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.01468	-1.1347	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	714	Q7L1W4	LRC8D_HUMAN	F	714	ENSP00000338887:S714F;ENSP00000378093:S714F	.	S	+	2	0	LRRC8D	90173356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TCT	LRRC8D	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.338	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	C	NM_018103		90400768	1	no_errors	ENST00000337338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90400768	C	T	90400768	3	4	76	1	0	0	0	0	1	0	0	0	9047	913	32	1	2143	1	LRRC8D	1	90400768	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	58190492	90400768	158849853	3	11942										
ABCD3	5825	genome.wustl.edu	37	chr1	94982641	94982641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tggatggcagaggcaactatGaattcaaacagataacagaa	10	6	1	4			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:94982641G>A	ENST00000370214.4	+	23	1960	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.E536K|ABCD3_ENST00000536817.1_Missense_Mutation_p.E573K|ABCD3_ENST00000454898.2_Missense_Mutation_p.E670K	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	646	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGGCAACTATGAATTCAAACA	0.348																																																	0													145	149	148					1																	94982641		2203	4299	6502	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1936G>A	1.37:g.94982641G>A	ENSP00000359233:p.Glu646Lys		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.E670K	ENST00000370214.4	37	c.2008	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.128073	0.37533	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28	5.51	5.51	0.81932	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	N	0.25380	0.74	0.80722	D	1	B;D;B	0.56035	0.059;0.974;0.018	B;D;B	0.70487	0.016;0.969;0.01	D	0.99958	1.1678	10	0.10377	T	0.69	-20.9894	19.4339	0.94783	0.0:0.0:1.0:0.0	.	670;536;646	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	K	536;670;573;646	ENSP00000377780:E536K;ENSP00000403357:E670K;ENSP00000440692:E573K;ENSP00000359233:E646K	ENSP00000359233:E646K	E	+	1	0	ABCD3	94755229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.739000	0.91574	2.582000	0.87167	0.651000	0.88453	GAA	ABCD3	-	pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.348	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	G	NM_002858		94982641	1	no_errors	ENST00000454898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94982641	G	A	94982641	3	1	76	1	0	0	0	0	1	0	0	0	62	1291	45	1	2057	1	ABCD3	1	94982641	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	4581873	94982641	154267980	4	11943										
SERPINC1	462	genome.wustl.edu	37	chr1	173876634	173876634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ctgagacatagaggtcatctCggccttctgcaacaatacct	8	12	3	2	rs201541724		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:173876634C>T	ENST00000367698.3	-	6	1290	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	391			R -> Q.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GAGGTCATCTCGGCCTTCTGC	0.468																																																	0													236	218	224					1																	173876634		2203	4300	6503	SO:0001583	missense	462			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1172G>A	1.37:g.173876634C>T	ENSP00000356671:p.Arg391Gln		B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R391Q	ENST00000367698.3	37	c.1172	CCDS1313.1	1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336234	0.41398	.	.	ENSG00000117601	ENST00000367698	D	0.82433	-1.61	5.98	3.8	0.43715	Serpin domain (3);	1.675390	0.03281	N	0.186194	T	0.61627	0.2362	L	0.31371	0.925	0.28694	N	0.904434	B	0.18461	0.028	B	0.04013	0.001	T	0.46105	-0.9215	10	0.27082	T	0.32	.	12.1488	0.54038	0.1236:0.8044:0.0:0.072	.	391	P01008	ANT3_HUMAN	Q	391	ENSP00000356671:R391Q	ENSP00000356671:R391Q	R	-	2	0	SERPINC1	172143257	0.008000	0.16893	0.584000	0.28653	0.162000	0.22319	0.940000	0.28992	1.554000	0.49487	0.650000	0.86243	CGA	SERPINC1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.468	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	C	NM_000488		173876634	-1	no_errors	ENST00000367698	ensembl	human	known	70_37	missense	SNP	0.769	T	T	173876634	C	T	173876634	3	4	76	1	0	0	0	0	1	0	0	0	14139	884	31	1	230	1	SERPINC1	1	173876634	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	78893993	173876634	75373987	5	11944										
C1orf49	84066	genome.wustl.edu	37	chr1	178491537	178491537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cccaaccttctgtgggccacGctgtgcctgccccaaagtcc	9	18	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:178491537G>A	ENST00000319416.2	+	9	776	c.664G>A	c.(664-666)Gct>Act	p.A222T	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000258298.2_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		tgtgggccacgctgtgcctgc	0.532																																																	0													35	30	32					1																	178491537		2203	4300	6503	SO:0001583	missense	84066			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 24kDa"		"chromosome 1 open reading frame 49"	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.664G>A	1.37:g.178491537G>A	ENSP00000323795:p.Ala222Thr			Missense_Mutation	SNP	NULL	p.A222T	ENST00000319416.2	37	c.664	CCDS1323.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065898	0.36470	.	.	ENSG00000240021	ENST00000319416	T	0.21361	2.01	2.12	-2.27	0.06846	.	1.447060	0.04721	N	0.419429	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.32375	-0.9909	10	0.56958	D	0.05	4.6768	3.8179	0.08822	0.2109:0.0:0.4539:0.3351	.	222	Q5T0J7	CA049_HUMAN	T	222	ENSP00000323795:A222T	ENSP00000323795:A222T	A	+	1	0	C1orf49	176758160	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.870000	0.04228	-0.572000	0.06006	-0.582000	0.04134	GCT	TEX35	-	NULL		0.532	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX35	HGNC	protein_coding	OTTHUMT00000084917.1	G	NM_032126		178491537	1	no_errors	ENST00000319416	ensembl	human	known	70_37	missense	SNP	0.001	A	A	178491537	G	A	178491537	3	1	76	1	0	0	0	0	1	0	0	0	2046	1087	38	2	779	2	C1orf49	1	178491537	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	4614903	178491537	70759084	6	11945										
KIAA1614	57710	genome.wustl.edu	37	chr1	180913548	180913548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tcaccctctcaccagcgtcgGaaagctgcctcttttcagaa	7	15	4	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:180913548G>A	ENST00000367588.4	+	8	3238	c.3183G>A	c.(3181-3183)cgG>cgA	p.R1061R	KIAA1614_ENST00000367587.1_Silent_p.R682R|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1061	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCAGCGTCGGAAAGCTGCCT	0.577																																																	0													69	73	71					1																	180913548		1995	4166	6161	SO:0001819	synonymous_variant	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3183G>A	1.37:g.180913548G>A			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.R1061	ENST00000367588.4	37	c.3183	CCDS41442.1	1																																																																																			KIAA1614	-	NULL		0.577	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	G	XM_046531		180913548	1	no_errors	ENST00000367588	ensembl	human	known	70_37	silent	SNP	1.000	A	A	180913548	G	A	180913548	2	1	76	1	0	0	0	0	0	0	0	1	8268	1161	41	1		1	KIAA1614	1	180913548	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	2422011	180913548	68337073	7	11946										
C1orf106	55765	genome.wustl.edu	37	chr1	200876963	200876963	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tcccctttgtctttcgcagaGctcagtgcctctgatgacag	9	13	3	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:200876963G>A	ENST00000367342.4	+	6	977	c.777G>A	c.(775-777)gaG>gaA	p.E259E	C1orf106_ENST00000413687.2_Splice_Site_p.E174E	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	259										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTTCGCAGAGCTCAGTGCCT	0.527																																																	0													135	123	127					1																	200876963		2203	4300	6503	SO:0001630	splice_region_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.776-1G>A	1.37:g.200876963G>A			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.E259	ENST00000367342.4	37	c.777		1																																																																																			C1orf106	-	NULL		0.527	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	G	NM_018265	Silent	200876963	1	no_errors	ENST00000367342	ensembl	human	known	70_37	silent	SNP	1.000	A	A	200876963	G	A	200876963	5	1	76	1	0	0	0	0	0	0	1	0	1985	985	34	4	799	4	C1orf106	1	200876963	Splice_Site	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	19963415	200876963	48373658	8	11947										
AHCTF1	25909	genome.wustl.edu	37	chr1	247067298	247067298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	acactttctattaccaaaggCcagctgcagcagatgcaaac	7	12	1	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:247067298C>T	ENST00000391829.2	-	7	1042	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	AHCTF1_ENST00000366508.1_Missense_Mutation_p.A342T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.A316T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	307	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTACCAAAGGCCAGCTGCAGC	0.348																																					Colon(145;197 1800 4745 15099 26333)												0													80	77	78					1																	247067298		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.919G>A	1.37:g.247067298C>T	ENSP00000375705:p.Ala307Thr		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.A316T	ENST00000391829.2	37	c.946		1	.	.	.	.	.	.	.	.	.	.	C	34	5.392354	0.95988	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.23147	1.92;1.92;1.92	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	P;P	0.59056	0.847;0.851	T	0.05354	-1.0890	10	0.42905	T	0.14	-5.5402	19.1058	0.93294	0.0:1.0:0.0:0.0	.	342;307	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	T	342;316;307	ENSP00000355464:A342T;ENSP00000355465:A316T;ENSP00000375705:A307T	ENSP00000355465:A316T	A	-	1	0	AHCTF1	245133921	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.298000	0.78815	2.506000	0.84524	0.557000	0.71058	GCC	AHCTF1	-	NULL		0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247067298	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	T	T	247067298	C	T	247067298	3	4	76	1	0	0	0	0	1	0	0	0	408	739	26	4	6001	4	AHCTF1	1	247067298	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	46190335	247067298	2183323	9	11948										
CTNNA2	1496	genome.wustl.edu	37	chr2	80773063	80773063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cgctctgacactggctgcccGgccacagagcaaagttgctc	11	15	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:80773063G>A	ENST00000402739.4	+	10	1420	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R151Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R472Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R472Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R472Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R506Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R472Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	472					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGGCTGCCCGGCCACAGAGC	0.507																																																	0													52	59	57					2																	80773063		2065	4221	6286	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1415G>A	2.37:g.80773063G>A	ENSP00000384638:p.Arg472Gln		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R506Q	ENST00000402739.4	37	c.1517		2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215678	0.58452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.64676	1.99	0.50171	D	0.99985	B;B;P;P	0.37158	0.13;0.386;0.585;0.585	B;B;B;B	0.32624	0.01;0.149;0.103;0.094	T	0.30794	-0.9966	9	.	.	.	.	20.2664	0.98460	0.0:0.0:1.0:0.0	.	104;472;472;472	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	472;472;506;472;472;472;151;137	ENSP00000418191:R472Q;ENSP00000419295:R472Q;ENSP00000355398:R506Q;ENSP00000384638:R472Q;ENSP00000444675:R472Q;ENSP00000441705:R472Q;ENSP00000341500:R151Q;ENSP00000386587:R137Q	.	R	+	2	0	CTNNA2	80626574	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	2.595000	0.46197	2.786000	0.95864	0.561000	0.74099	CGG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	G	NM_004389		80773063	1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	0.999	A	A	80773063	G	A	80773063	3	1	76	1	0	0	0	0	1	0	0	0	4018	1116	39	2	1245	2	CTNNA2	2	80773063	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		80773063	162426310	10	11949										
SMYD1	150572	genome.wustl.edu	37	chr2	88367422	88367422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gagaacgtggaggtcttcacCgctgagggcaaaggaagggg	18	7	2	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:88367422C>T	ENST00000419482.2	+	1	124	c.39C>T	c.(37-39)acC>acT	p.T13T	SMYD1_ENST00000444564.2_Silent_p.T13T|SMYD1_ENST00000438570.1_Silent_p.T13T	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	13	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGTCTTCACCGCTGAGGGCA	0.522																																																	0													207	229	222					2																	88367422		2203	4300	6503	SO:0001819	synonymous_variant	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.39C>T	2.37:g.88367422C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.T13	ENST00000419482.2	37	c.39	CCDS33240.1	2																																																																																			SMYD1	-	smart_SET_dom		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	C	XM_097915		88367422	1	no_errors	ENST00000419482	ensembl	human	known	70_37	silent	SNP	0.182	T	T	88367422	C	T	88367422	2	4	76	1	0	0	0	0	0	0	0	1	14851	639	23	2		2	SMYD1	2	88367422	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	7594359	88367422	154831951	11	11950										
PTPN4	5775	genome.wustl.edu	37	chr2	120702698	120702698	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tgggaagcctccagctttacCacccaaacagtcaaagaaaa	7	12	1	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:120702698C>G	ENST00000263708.2	+	16	2168	c.1397C>G	c.(1396-1398)cCa>cGa	p.P466R	PTPN4_ENST00000544261.1_Missense_Mutation_p.P99R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	466					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCAGCTTTACCACCCAAACAG	0.353																																																	0													71	75	73					2																	120702698		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1397C>G	2.37:g.120702698C>G	ENSP00000263708:p.Pro466Arg		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P466R	ENST00000263708.2	37	c.1397	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732993	0.69189	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.71103	-0.54;2.99;0.92	5.2	5.2	0.72013	.	0.049583	0.85682	D	0.000000	T	0.77598	0.4154	L	0.34521	1.04	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.73959	-0.3818	10	0.27082	T	0.32	.	19.1079	0.93303	0.0:1.0:0.0:0.0	.	466	P29074	PTN4_HUMAN	R	466;99;92	ENSP00000263708:P466R;ENSP00000445841:P99R;ENSP00000387457:P92R	ENSP00000263708:P466R	P	+	2	0	PTPN4	120419168	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.609000	0.74173	2.566000	0.86566	0.655000	0.94253	CCA	PTPN4	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.353	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	C			120702698	1	no_errors	ENST00000263708	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120702698	C	G	120702698	3	3	76	1	0	0	0	0	1	0	0	0	12820	594	21	4	1455	4	PTPN4	2	120702698	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	32335276	120702698	122496675	12	11951										
ITGB6	3694	genome.wustl.edu	37	chr2	160998513	160998513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ttcataagctgagatgatcaGctggagaatgtttccggagt	12	6	2	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:160998513G>A	ENST00000283249.2	-	8	1324	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	ITGB6_ENST00000409967.2_Silent_p.L363L|ITGB6_ENST00000428609.2_Silent_p.L321L|ITGB6_ENST00000409872.1_Silent_p.L363L|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	363	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAGATGATCAGCTGGAGAATG	0.358																																																	0													77	68	71					2																	160998513		2203	4300	6503	SO:0001819	synonymous_variant	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1087C>T	2.37:g.160998513G>A			B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L363	ENST00000283249.2	37	c.1087	CCDS2212.1	2																																																																																			ITGB6	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu		0.358	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	G	NM_000888		160998513	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	silent	SNP	1.000	A	A	160998513	G	A	160998513	2	1	76	1	0	0	0	0	0	0	0	1	7919	962	34	4		4	ITGB6	2	160998513	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	40295815	160998513	82200860	13	11952										
COBLL1	22837	genome.wustl.edu	37	chr2	165586456	165586456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	aggtgtaggttttttcttatCcaacatttttggctttaaaa	7	5	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:165586456C>T	ENST00000392717.2	-	4	518	c.514G>A	c.(514-516)Gat>Aat	p.D172N	COBLL1_ENST00000194871.6_Missense_Mutation_p.D187N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D134N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D134N|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Missense_Mutation_p.D172N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	172						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTTTCTTATCCAACATTTTT	0.333																																																	0													155	149	151					2																	165586456		2202	4300	6502	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.514G>A	2.37:g.165586456C>T	ENSP00000376478:p.Asp172Asn		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.D187N	ENST00000392717.2	37	c.559		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.283494|4.283494	0.80803|0.80803	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843|ENST00000452626	D;D;D;D;D;D;D;D;D;D|.	0.92099|.	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97|.	5.83|5.83	4.95|4.95	0.65309|0.65309	Cordon-bleu domain (1);|.	0.132737|.	0.64402|.	N|.	0.000002|.	T|T	0.73032|0.73032	0.3535|0.3535	M|M	0.69823|0.69823	2.125|2.125	0.50467|0.50467	D|D	0.999871|0.999871	P;P;P|.	0.48230|.	0.907;0.907;0.886|.	P;P;P|.	0.48654|.	0.585;0.585;0.449|.	T|T	0.73372|0.73372	-0.4003|-0.4003	10|5	0.62326|.	D|.	0.03|.	-9.7834|-9.7834	15.2984|15.2984	0.73928|0.73928	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	172;187;172|.	Q53SF7;B7Z2P5;Q53SF7-2|.	COBL1_HUMAN;.;.|.	N|E	134;134;172;172;187;109;134;141;156;134|136	ENSP00000364607:D134N;ENSP00000341360:D134N;ENSP00000387326:D172N;ENSP00000376478:D172N;ENSP00000194871:D187N;ENSP00000397520:D109N;ENSP00000406062:D134N;ENSP00000397835:D141N;ENSP00000409237:D156N;ENSP00000387967:D134N|.	ENSP00000194871:D187N|.	D|G	-|-	1|2	0|0	COBLL1|COBLL1	165294702|165294702	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.967000|0.967000	0.64934|0.64934	6.011000|6.011000	0.70760|0.70760	1.469000|1.469000	0.48083|0.48083	0.650000|0.650000	0.86243|0.86243	GAT|GGA	COBLL1	-	pfam_Cordon-bleu_domain		0.333	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		C	NM_014900		165586456	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	missense	SNP	1.000	T	T	165586456	C	T	165586456	3	4	76	1	0	0	0	0	1	0	0	0	3659	855	30	1	3148	1	COBLL1	2	165586456	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	4587943	165586456	77612917	14	11953										
FSIP2	401024	genome.wustl.edu	37	chr2	186603605	186603606	+	5'Flank	INS	-	-	G													0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gcgggtgaggaaggggctgaINSgggggctgtgccggccatgg					rs397871016|rs35617283	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:186603605_186603606insG	ENST00000424728.1	+	0	0				AC007966.1_ENST00000437717.1_RNA|AC007966.1_ENST00000421998.1_RNA|AC007966.1_ENST00000427269.2_RNA|FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.EG84fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAAGGGGCTGAGGGGGCTGTGC	0.688													GGGGGG|GGGGG|GGGGGG|deletion	1695	0.338458	0.292	0.3559	5008	,	,		12864	0.4127		0.3628	False		,,,				2504	0.2873																0																																										SO:0001631	upstream_gene_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874		2.37:g.186603610_186603610dupG	Exception_encountered		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	NULL	p.A86fs	ENST00000424728.1	37	c.251_252		2																																																																																			FSIP2	-	NULL		0.688	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	NM_173651		186603606	1	no_errors	ENST00000343098	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G	G	186603606	-	G	186603605	6	5	76	0	1	1	1	0	0	0	0	0	6093	304	11	0		0	FSIP2	2	186603605	5'Flank	INS	-	TCGA-EA-A3QE-01A-21D-A21Q-09	21017149	186603605	56595768	15	11954										
SLC6A1	6529	genome.wustl.edu	37	chr3	11059595	11059595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cccactcttcctgctggagtGctccctgggccagtacacct	9	17	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:11059595G>T	ENST00000287766.4	+	4	726	c.305G>T	c.(304-306)tGc>tTc	p.C102F	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	102					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTGCTGGAGTGCTCCCTGGGC	0.587																																																	0													119	126	123					3																	11059595		2203	4300	6503	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.305G>T	3.37:g.11059595G>T	ENSP00000287766:p.Cys102Phe		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1	p.C102F	ENST00000287766.4	37	c.305	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326480	0.60743	.	.	ENSG00000157103	ENST00000287766	T	0.72394	-0.65	4.07	4.07	0.47477	.	0.130821	0.52532	D	0.000065	T	0.63319	0.2501	N	0.04994	-0.135	0.80722	D	1	D	0.53462	0.96	P	0.57960	0.83	T	0.69450	-0.5142	10	0.52906	T	0.07	.	12.7011	0.57034	0.0:0.1657:0.8343:0.0	.	102	P30531	SC6A1_HUMAN	F	102	ENSP00000287766:C102F	ENSP00000287766:C102F	C	+	2	0	SLC6A1	11034595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.576000	0.46033	2.273000	0.75805	0.563000	0.77884	TGC	SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.587	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	G	NM_003042		11059595	1	no_errors	ENST00000287766	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11059595	G	T	11059595	3	4	76	1	0	0	0	0	1	0	0	0	14703	1319	46	4	311	4	SLC6A1	3	11059595	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		11059595	186962835	16	11955										
ALDH1L1	10840	genome.wustl.edu	37	chr3	125877305	125877305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtgacgggtgatagatgatgGagccatgccggggggcactg	19	7	0	4			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:125877305G>T	ENST00000393434.2	-	3	654	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S112Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S102Y|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S102Y|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.S102Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	102	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATAGATGATGGAGCCATGCCG	0.592																																																	0													78	67	71					3																	125877305		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.305C>A	3.37:g.125877305G>T	ENSP00000377083:p.Ser102Tyr		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.S102Y	ENST00000393434.2	37	c.305	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990969	0.74703	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.84	4.84	0.62591	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.97110	0.996;0.991;1.0;0.991	D	0.89218	0.3569	10	0.87932	D	0	.	15.4491	0.75259	0.0:0.0:1.0:0.0	.	102;154;9;102	E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;AL1L1_HUMAN	Y	112;102;102;102;102;102;102;102	ENSP00000273450:S112Y;ENSP00000420293:S102Y;ENSP00000395881:S102Y;ENSP00000377083:S102Y;ENSP00000377081:S102Y;ENSP00000418711:S102Y;ENSP00000419826:S102Y;ENSP00000419955:S102Y	ENSP00000273450:S112Y	S	-	2	0	ALDH1L1	127359995	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	9.265000	0.95647	2.525000	0.85131	0.491000	0.48974	TCC	ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH		0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	G	NM_012190		125877305	-1	no_errors	ENST00000393434	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125877305	G	T	125877305	3	4	76	1	0	0	0	0	1	0	0	0	494	1174	41	3	2487	3	ALDH1L1	3	125877305	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	114817710	125877305	72145125	17	11956										
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178952085	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178952085	A	G	178952085	3	3	76	1	0	0	0	0	1	0	0	0	11937	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-EA-A3QE-01A-21D-A21Q-09	53074780	178952085	19070345	18	11957										
LETM1	3954	genome.wustl.edu	37	chr4	1824750	1824750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cttctgcagctccttctcacGgtgctcctgctggatggccg	11	15	2	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:1824750G>A	ENST00000302787.2	-	9	1737	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	481					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCCTTCTCACGGTGCTCCTGC	0.672																																																	0													63	59	61					4																	1824750		2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1441C>T	4.37:g.1824750G>A	ENSP00000305653:p.Arg481Cys		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.R481C	ENST00000302787.2	37	c.1441	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822582	0.32237	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.78	0.49	0.16861	.	1.003210	0.08032	N	0.993711	T	0.33933	0.0880	L	0.54323	1.7	0.19775	N	0.999954	D	0.63046	0.992	B	0.40534	0.332	T	0.35176	-0.9799	9	0.59425	D	0.04	-7.3955	11.5509	0.50721	0.0:0.2553:0.62:0.1247	.	481	O95202	LETM1_HUMAN	C	481	.	ENSP00000305653:R481C	R	-	1	0	LETM1	1794548	0.071000	0.21146	0.041000	0.18516	0.148000	0.21650	0.711000	0.25764	0.052000	0.16007	0.491000	0.48974	CGT	LETM1	-	NULL		0.672	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	G			1824750	-1	no_errors	ENST00000302787	ensembl	human	known	70_37	missense	SNP	0.004	A	A	1824750	G	A	1824750	3	1	76	1	0	0	0	0	1	0	0	0	8754	1116	39	2	802	2	LETM1	4	1824750	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		1824750	189329526	19	11958										
GPR125	166647	genome.wustl.edu	37	chr4	22437053	22437053	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	agtgtaagccagtaactgtcGagctgttgccacggcattgg	13	9	0	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:22437053G>A	ENST00000334304.5	-	10	1593	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	GPR125_ENST00000502482.1_Nonsense_Mutation_p.R442*|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Nonsense_Mutation_p.R216*	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGTAACTGTCGAGCTGTTGCC	0.383																																																	0													82	76	78					4																	22437053		2203	4300	6503	SO:0001587	stop_gained	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1324C>T	4.37:g.22437053G>A	ENSP00000334952:p.Arg442*		Q6UXK9|Q86SQ5|Q8TC55	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.R442*	ENST00000334304.5	37	c.1324	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.636911	0.96693	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	.	.	.	5.6	3.66	0.41972	.	0.056730	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-35.2494	15.1745	0.72901	0.0:0.0:0.6497:0.3503	.	.	.	.	X	442;216;442	.	ENSP00000334952:R442X	R	-	1	2	GPR125	22046151	0.972000	0.33761	0.984000	0.44739	0.973000	0.67179	2.506000	0.45433	1.329000	0.45376	0.563000	0.77884	CGA	GPR125	-	NULL		0.383	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	G			22437053	-1	no_errors	ENST00000334304	ensembl	human	known	70_37	nonsense	SNP	0.990	A	A	22437053	G	A	22437053	4	1	76	1	0	0	0	0	0	1	0	0	6658	1066	37	1	2681	1	GPR125	4	22437053	Nonsense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	20612303	22437053	168717223	20	11959										
ADH7	131	genome.wustl.edu	37	chr4	100349082	100349082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	actggtgttcatgaagtggtGgactggtttgcccttgcatg	14	7	1	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:100349082G>T	ENST00000209665.4	-	5	688	c.448C>A	c.(448-450)Cac>Aac	p.H150N	ADH7_ENST00000437033.2_Missense_Mutation_p.H138N|ADH7_ENST00000482593.1_Missense_Mutation_p.H81N|ADH7_ENST00000476959.1_Missense_Mutation_p.H158N	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	150				HH -> GR (in Ref. 11; AA sequence). {ECO:0000305}.	ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ATGAAGTGGTGGACTGGTTTG	0.423																																																	0													281	214	237					4																	100349082		2203	4300	6503	SO:0001583	missense	131			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.448C>A	4.37:g.100349082G>T	ENSP00000209665:p.His150Asn		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.H150N	ENST00000209665.4	37	c.448	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670133	0.29693	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58	4.81	-3.77	0.04346	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.766515	0.12919	N	0.428323	T	0.04182	0.0116	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.33033	-0.9884	10	0.87932	D	0	-2.4971	14.565	0.68168	0.444:0.0:0.556:0.0	.	150	P40394	ADH7_HUMAN	N	138;150;81;158;81	ENSP00000414254:H138N;ENSP00000209665:H150N;ENSP00000420613:H81N;ENSP00000420269:H158N;ENSP00000420300:H81N	ENSP00000209665:H150N	H	-	1	0	ADH7	100568105	0.004000	0.15560	0.000000	0.03702	0.064000	0.16182	0.199000	0.17237	-0.851000	0.04147	-1.021000	0.02439	CAC	ADH7	-	pfam_ADH_GroES-like,superfamily_GroES-like		0.423	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		G	NM_000673		100349082	-1	no_errors	ENST00000209665	ensembl	human	known	70_37	missense	SNP	0.010	T	T	100349082	G	T	100349082	3	4	76	1	0	0	0	0	1	0	0	0	313	1348	47	4	732	4	ADH7	4	100349082	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	77912029	100349082	90805194	21	11960										
FBXW7	55294	genome.wustl.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	99	Substitution - Missense(98)|Unknown(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)											260	223	235					4																	153249385		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465C	ENST00000281708.4	37	c.1393	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153249385	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153249385	G	A	153249385	3	1	76	1	0	0	0	0	1	0	0	0	5787	1087	38	2	746	2	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	52900303	153249385	37904891	22	11961										
DCHS2	54798	genome.wustl.edu	37	chr4	155411341	155411341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtggcaacctcaggctcggcGcctccatcgcgggcctccac	12	18	1	0	rs542419101	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:155411341G>A	ENST00000339452.1	-	1	1527	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	DCHS2_ENST00000456341.2_Silent_p.G382G|DCHS2_ENST00000443500.1_Silent_p.G389G	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1558	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGGCTCGGCGCCTCCATCGC	0.667													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		12795	0		0	False		,,,				2504	0																0													6	8	8					4																	155411341		664	1539	2203	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1167C>T	4.37:g.155411341G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G389	ENST00000339452.1	37	c.1167	CCDS47150.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	G	NM_001142552		155411341	-1	no_errors	ENST00000339452	ensembl	human	known	70_37	silent	SNP	0.013	A	A	155411341	G	A	155411341	2	1	76	1	0	0	0	0	0	0	0	1	4293	1074	38	2		2	DCHS2	4	155411341	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	2161956	155411341	35742935	23	11962										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720212	140720212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtgctggaccagaacgacaaCgcgcccgagatcctgtaccc	11	15	0	2	rs150000282	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr5:140720212C>T	ENST00000394576.2	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.622																																																	0								C	,,	1,4405		0,1,2202	158	158	158		,1674,1674	-6.3	0	5	dbSNP_134	158	2,8598		0,2,4298	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	,558/933,558/824	140720212	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1674C>T	5.37:g.140720212C>T			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N558	ENST00000394576.2	37	c.1674	CCDS47289.1	5																																																																																			PCDHGA2	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140720212	1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.003	T	T	140720212	C	T	140720212	2	4	76	1	0	0	0	0	0	0	0	1	11578	535	19	2		2	PCDHGA2	5	140720212	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09		140720212	40195048	24	11963										
ODZ2	57451	genome.wustl.edu	37	chr5	167551886	167551886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gatcccacctgctccagccaCggagtctgtgtgaatggaga	12	12	1	2	rs369986376		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr5:167551886C>T	ENST00000518659.1	+	11	2079	c.2040C>T	c.(2038-2040)caC>caT	p.H680H	TENM2_ENST00000519204.1_Silent_p.H559H|TENM2_ENST00000545108.1_Silent_p.H680H|TENM2_ENST00000403607.2_Silent_p.H513H|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.H448H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	680	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCTCCAGCCACGGAGTCTGTG	0.512																																																	0								C		0,4256		0,0,2128	40	42	41		2040	0.6	1	5		41	1,8475		0,1,4237	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6365	TT,TC,CC		0.0118,0.0,0.0079		680/2766	167551886	1,12731	2128	4238	6366	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2040C>T	5.37:g.167551886C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.H680	ENST00000518659.1	37	c.2040		5																																																																																			TENM2	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167551886	1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	0.982	T	T	167551886	C	T	167551886	2	4	76	1	0	0	0	0	0	0	0	1	10859	535	19	2		2	ODZ2	5	167551886	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	26831674	167551886	13363374	25	11964										
TRIM7	81786	genome.wustl.edu	37	chr5	180626112	180626112	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cacctgctcagcgtgcttttGaattcctggaaggaaagata	10	9	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr5:180626112G>T	ENST00000274773.7	-	4	916	c.855C>A	c.(853-855)ttC>ttA	p.F285L	CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.F103L|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'Flank|TRIM7_ENST00000393315.1_Missense_Mutation_p.F77L|TRIM7_ENST00000422067.2_Missense_Mutation_p.F77L|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.F77L|CTC-338M12.6_ENST00000514784.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	285						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCGTGCTTTTGAATTCCTGGA	0.502																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													123	128	126					5																	180626112		2203	4300	6503	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.855C>A	5.37:g.180626112G>T	ENSP00000274773:p.Phe285Leu		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.F285L	ENST00000274773.7	37	c.855	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	g	11.51	1.659028	0.29515	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69	4.5	3.63	0.41609	.	0.256265	0.26734	N	0.022777	T	0.03959	0.0111	N	0.21448	0.665	0.26649	N	0.972131	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30592	-0.9973	10	0.59425	D	0.04	.	9.1346	0.36866	0.1055:0.0:0.8945:0.0	.	285;103	Q9C029;Q9C029-4	TRIM7_HUMAN;.	L	285;77;77;103;77	ENSP00000274773:F285L;ENSP00000376991:F77L;ENSP00000355059:F77L;ENSP00000376994:F103L;ENSP00000391458:F77L	ENSP00000274773:F285L	F	-	3	2	TRIM7	180558718	0.945000	0.32115	1.000000	0.80357	0.642000	0.38348	0.575000	0.23729	1.218000	0.43458	0.550000	0.68814	TTC	TRIM7	-	NULL		0.502	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	G	NM_203296		180626112	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	180626112	G	T	180626112	3	4	76	1	0	0	0	0	1	0	0	0	16574	1281	45	3	696	3	TRIM7	5	180626112	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	13074226	180626112	289148	26	11965										
HLA-A	3105	genome.wustl.edu	37	chr6	29910553	29910556	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ggctcccactccatgaggtaTttcttcacatccgtgtcccg					rs199474351|rs199474352|rs386698549		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:29910553_29910556delTTTC	ENST00000396634.1	+	4	434_437	c.93_96delTTTC	c.(91-96)tatttcfs	p.YF31fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.YF31fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.YF31fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.YF31fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	31	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCATGAGGTATTTCTTCACATCCG	0.725									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001589	frameshift_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.93_96delTTTC	6.37:g.29910553_29910556delTTTC	ENSP00000379873:p.Tyr31fs		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.F32fs	ENST00000396634.1	37	c.93_96	CCDS34373.1	6																																																																																			HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.725	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	TTTC	NM_002116		29910556	1	no_errors	ENST00000376806	ensembl	human	known	70_37	frame_shift_del	DEL	0.268:0.270:0.216:0.061	-	-	29910556	TTTC	-	29910553	7	5	76	1	0	1	0	1	0	0	0	0	7215	1500	52	0	99	0	HLA-A	6	29910553	Frame_Shift_Del	DEL	TTTC	TCGA-EA-A3QE-01A-21D-A21Q-09		29910553	141204514	27	11966										
CD109	135228	genome.wustl.edu	37	chr6	74517881	74517881	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gaatttcagacaattatactCtagcccttataacttatgca	4	9	2	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:74517881C>G	ENST00000287097.5	+	26	3377	c.3265C>G	c.(3265-3267)Cta>Gta	p.L1089V	CD109_ENST00000437994.2_Missense_Mutation_p.L1089V|CD109_ENST00000422508.2_Missense_Mutation_p.L1012V			Q6YHK3	CD109_HUMAN	CD109 molecule	1089					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAATTATACTCTAGCCCTTAT	0.378																																																	0													88	86	87					6																	74517881		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3265C>G	6.37:g.74517881C>G	ENSP00000287097:p.Leu1089Val		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1089V	ENST00000287097.5	37	c.3265	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770403	0.31320	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.38077	1.16;1.16;1.16	4.68	1.87	0.25490	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	D	0.000004	T	0.34978	0.0916	L	0.55017	1.72	0.31284	N	0.690228	D;P;P	0.71674	0.998;0.944;0.933	D;P;D	0.72075	0.976;0.79;0.928	T	0.21211	-1.0252	10	0.59425	D	0.04	.	8.5743	0.33590	0.0:0.6401:0.0:0.3599	.	1012;1089;1089	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	1089;1012;1089	ENSP00000388062:L1089V;ENSP00000404475:L1012V;ENSP00000287097:L1089V	ENSP00000287097:L1089V	L	+	1	2	CD109	74574602	0.020000	0.18652	0.203000	0.23512	0.322000	0.28314	0.121000	0.15667	0.190000	0.20209	0.650000	0.86243	CTA	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.378	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	C	NM_133493		74517881	1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	0.726	G	G	74517881	C	G	74517881	3	3	76	1	0	0	0	0	1	0	0	0	2968	912	32	1	3367	1	CD109	6	74517881	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	44607328	74517881	96597186	28	11967										
ROS1	6098	genome.wustl.edu	37	chr6	117710546	117710546	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	aagggcaggaggcttccattGaacaagagcctggtgagagc	15	8	0	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:117710546G>A	ENST00000368508.3	-	12	1924	c.1726C>T	c.(1726-1728)Caa>Taa	p.Q576*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.Q585*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	576	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTTCCATTGAACAAGAGCC	0.567			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													74	79	77					6																	117710546		2203	4300	6503	SO:0001587	stop_gained	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1726C>T	6.37:g.117710546G>A	ENSP00000357494:p.Gln576*		Q15368|Q5TDB5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q576*	ENST00000368508.3	37	c.1726	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.232577	0.98154	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.4	4.34	0.51931	.	0.818306	0.10974	N	0.613520	.	.	.	.	.	.	0.50313	D	0.999866	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.0823	0.25237	0.0993:0.0:0.7138:0.1869	.	.	.	.	X	576;585	.	ENSP00000357493:Q585X	Q	-	1	0	ROS1	117817239	0.920000	0.31207	0.998000	0.56505	0.643000	0.38383	0.852000	0.27764	2.518000	0.84900	0.655000	0.94253	CAA	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117710546	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	nonsense	SNP	0.748	A	A	117710546	G	A	117710546	4	1	76	1	0	0	0	0	0	1	0	0	13561	1299	45	1	5445	1	ROS1	6	117710546	Nonsense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	43192665	117710546	53404521	29	11968										
FAM54A	113115	genome.wustl.edu	37	chr6	136560647	136560647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cttattcatatcctttagaaCgtccaacatgtttggaatat	5	8	1	1	rs141467777		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:136560647C>T	ENST00000420702.1	-	6	1215	c.826G>A	c.(826-828)Gtt>Att	p.V276I	MTFR2_ENST00000451457.2_Missense_Mutation_p.V276I	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	276					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											TCCTTTAGAACGTCCAACATG	0.333																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	124	119	120		826,826	4.5	1	6	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM54A	NM_001099286.1,NM_138419.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	276/386,276/386	136560647	1,13005	2203	4300	6503	SO:0001583	missense	113115			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.826G>A	6.37:g.136560647C>T	ENSP00000395232:p.Val276Ile		A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	pfam_Mtfr1	p.V276I	ENST00000420702.1	37	c.826	CCDS5176.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.83|15.83	2.948070|2.948070	0.53186|0.53186	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146410|ENSG00000146410	ENST00000532958|ENST00000451457;ENST00000420702;ENST00000418509	.|T;T;T	.|0.47869	.|0.83;0.83;0.83	5.4|5.4	4.53|4.53	0.55603|0.55603	.|.	.|0.058887	.|0.64402	.|N	.|0.000002	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.25825|0.25825	0.765|0.765	0.44825|0.44825	D|D	0.997834|0.997834	.|P	.|0.48016	.|0.904	.|B	.|0.42798	.|0.398	T|T	0.02829|0.02829	-1.1105|-1.1105	5|10	.|0.36615	.|T	.|0.2	-23.3649|-23.3649	11.515|11.515	0.50515|0.50515	0.0:0.915:0.0:0.085|0.0:0.915:0.0:0.085	.|.	.|276	.|Q6P444	.|FA54A_HUMAN	H|I	13|276;276;233	.|ENSP00000407010:V276I;ENSP00000395232:V276I;ENSP00000410861:V233I	.|ENSP00000410861:V233I	R|V	-|-	2|1	0|0	FAM54A|FAM54A	136602340|136602340	0.968000|0.968000	0.33430|0.33430	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	2.045000|2.045000	0.41250|0.41250	1.278000|1.278000	0.44430|0.44430	0.557000|0.557000	0.71058|0.71058	CGT|GTT	FAM54A	-	pfam_Mtfr1		0.333	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM54A	HGNC	protein_coding	OTTHUMT00000042378.2	C	NM_138419		136560647	-1	no_errors	ENST00000420702	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136560647	C	T	136560647	3	4	76	1	0	0	0	0	1	0	0	0	5600	536	19	2	343	2	FAM54A	6	136560647	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	18850101	136560647	34554420	30	11969										
GPR126	57211	genome.wustl.edu	37	chr6	142691670	142691670	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tattggtgtaaatttcaaaaGaaactatgaaacagttccat	6	5	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:142691670G>C	ENST00000230173.6	+	4	1285	c.809G>C	c.(808-810)aGa>aCa	p.R270T	GPR126_ENST00000367608.2_Missense_Mutation_p.R270T|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.R270T|GPR126_ENST00000367609.3_Missense_Mutation_p.R270T	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	270	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AATTTCAAAAGAAACTATGAA	0.348																																																	0													102	102	102					6																	142691670		1808	4066	5874	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.809G>C	6.37:g.142691670G>C	ENSP00000230173:p.Arg270Thr		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R270T	ENST00000230173.6	37	c.809	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990545	0.35131	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.36	2.58	0.30949	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.373597	0.26816	N	0.022347	T	0.30727	0.0774	L	0.51422	1.61	0.20703	N	0.999861	B;B;B;B	0.29232	0.2;0.2;0.2;0.238	B;B;B;B	0.34590	0.117;0.117;0.117;0.186	T	0.19257	-1.0311	10	0.36615	T	0.2	.	7.6181	0.28169	0.4047:0.0:0.5953:0.0	.	270;270;270;270	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	T	270	ENSP00000230173:R270T;ENSP00000356580:R270T;ENSP00000296932:R270T;ENSP00000356581:R270T	ENSP00000230173:R270T	R	+	2	0	GPR126	142733363	0.461000	0.25783	0.932000	0.37286	0.976000	0.68499	0.686000	0.25392	0.629000	0.30376	0.650000	0.86243	AGA	GPR126	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.348	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	G			142691670	1	no_errors	ENST00000367609	ensembl	human	known	70_37	missense	SNP	0.899	C	C	142691670	G	C	142691670	3	2	76	1	0	0	0	0	1	0	0	0	6659	942	33	1	823	1	GPR126	6	142691670	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	6131023	142691670	28423397	31	11970										
WDR91	29062	genome.wustl.edu	37	chr7	134880995	134880995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ctccaccctcagggcctgccGaggatgcccgagtcagtggc	13	16	2	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:134880995G>A	ENST00000354475.4	-	8	1176	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	WDR91_ENST00000344400.5_Missense_Mutation_p.S382L|WDR91_ENST00000485942.1_5'Flank|AC009542.2_ENST00000412549.2_RNA|WDR91_ENST00000423565.1_Missense_Mutation_p.S347L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	382										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGGGCCTGCCGAGGATGCCCG	0.627																																																	0													49	50	50					7																	134880995		2203	4300	6503	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1145C>T	7.37:g.134880995G>A	ENSP00000346466:p.Ser382Leu		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S382L	ENST00000354475.4	37	c.1145	CCDS34758.1	7	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587864	0.28268	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.64438	1.48;-0.1;0.48	5.2	2.16	0.27623	.	1.212760	0.05530	N	0.563790	T	0.45316	0.1336	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.32348	-0.9910	10	0.36615	T	0.2	-16.7506	7.3685	0.26787	0.1844:0.2373:0.5783:0.0	.	382	A4D1P6	WDR91_HUMAN	L	382;382;347	ENSP00000340877:S382L;ENSP00000346466:S382L;ENSP00000392555:S347L	ENSP00000340877:S382L	S	-	2	0	WDR91	134531535	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.436000	0.21526	0.597000	0.29811	0.650000	0.86243	TCG	WDR91	-	NULL		0.627	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	G	NM_014149		134880995	-1	no_errors	ENST00000354475	ensembl	human	known	70_37	missense	SNP	0.000	A	A	134880995	G	A	134880995	3	1	76	1	0	0	0	0	1	0	0	0	17369	1059	37	1	1130	1	WDR91	7	134880995	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		134880995	24257668	32	11971										
CNTNAP2	26047	genome.wustl.edu	37	chr7	147092868	147092868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ttgacatgtgtgcgatcataGacaggtaaatgatcttttca	9	6	3	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:147092868G>A	ENST00000361727.3	+	10	2182	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGATCATAGACAGGTAAAT	0.413										HNSCC(39;0.1)																																							0													130	115	120					7																	147092868		2203	4299	6502	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1666G>A	7.37:g.147092868G>A	ENSP00000354778:p.Asp556Asn		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D556N	ENST00000361727.3	37	c.1666	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994505	0.93167	.	.	ENSG00000174469	ENST00000361727	T	0.76060	-0.99	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.81437	0.4822	L	0.46567	1.45	0.80722	D	1	P	0.52316	0.952	P	0.61722	0.893	T	0.82281	-0.0535	10	0.56958	D	0.05	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	N	556	ENSP00000354778:D556N	ENSP00000354778:D556N	D	+	1	0	CNTNAP2	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC	CNTNAP2	-	pfscan_EG-like_dom		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			147092868	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147092868	G	A	147092868	3	1	76	1	0	0	0	0	1	0	0	0	3652	942	33	1	1704	1	CNTNAP2	7	147092868	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	12211873	147092868	12045795	33	11972										
ZNF746	155061	genome.wustl.edu	37	chr7	149171621	149171621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cgtcgggagtggctggcctcGggccggggtcttggcgcccg	20	13	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:149171621G>A	ENST00000340622.3	-	7	2069	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	ZNF746_ENST00000458143.2_Nonsense_Mutation_p.R598*			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	597					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCTGGCCTCGGGCCGGGGTC	0.672																																																	0													27	25	26					7																	149171621		2195	4292	6487	SO:0001587	stop_gained	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1789C>T	7.37:g.149171621G>A	ENSP00000345140:p.Arg597*		A8K6Z9|Q6ZRF9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R598*	ENST00000340622.3	37	c.1792	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.290626	0.98745	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	.	.	.	5.58	3.73	0.42828	.	0.676525	0.12885	N	0.431098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-5.7416	9.115	0.36753	0.0811:0.1481:0.7708:0.0	.	.	.	.	X	597;598	.	ENSP00000345140:R597X	R	-	1	2	ZNF746	148802554	0.002000	0.14202	0.202000	0.23494	0.822000	0.46500	0.520000	0.22878	0.678000	0.31325	0.462000	0.41574	CGA	ZNF746	-	NULL		0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	G	NM_152557		149171621	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	nonsense	SNP	0.930	A	A	149171621	G	A	149171621	4	1	76	1	0	0	0	0	0	1	0	0	18159	1124	39	2	149	2	ZNF746	7	149171621	Nonsense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	2078753	149171621	9967042	34	11973										
UBE3C	9690	genome.wustl.edu	37	chr7	157046952	157046952	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ccttaggtattaatttctggTgcacaagttcccataagcct	7	10	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:157046952T>C	ENST00000348165.5	+	21	3258	c.2898T>C	c.(2896-2898)ggT>ggC	p.G966G		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	966	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TAATTTCTGGTGCACAAGTTC	0.358																																																	0													81	81	81					7																	157046952		2203	4300	6503	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2898T>C	7.37:g.157046952T>C			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G966	ENST00000348165.5	37	c.2898	CCDS34789.1	7																																																																																			UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.358	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	T	NM_014671		157046952	1	no_errors	ENST00000348165	ensembl	human	known	70_37	silent	SNP	1.000	C	C	157046952	T	C	157046952	2	2	76	1	0	0	0	0	0	0	0	1	16912	1683	59	5		5	UBE3C	7	157046952	Silent	SNP	T	TCGA-EA-A3QE-01A-21D-A21Q-09	7875331	157046952	2091711	35	11974										
UBXN2B	137886	genome.wustl.edu	37	chr8	59345735	59345735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ttagtcatttacaggtggagGatacagattgggtagttctt	12	4	2	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr8:59345735G>A	ENST00000399598.2	+	4	478	c.356G>A	c.(355-357)gGa>gAa	p.G119E	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	119						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAGGTGGAGGATACAGATTG	0.294																																																	0													211	209	209					8																	59345735		1812	4068	5880	SO:0001583	missense	137886			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.356G>A	8.37:g.59345735G>A	ENSP00000382507:p.Gly119Glu		B3KWZ3	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.G119E	ENST00000399598.2	37	c.356	CCDS43741.1	8	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605175	0.87157	.	.	ENSG00000215114	ENST00000399598	T	0.71579	-0.58	5.62	5.62	0.85841	.	0.000000	0.43747	U	0.000532	D	0.86171	0.5869	M	0.84773	2.715	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.87909	0.2696	10	0.87932	D	0	-16.4668	17.8569	0.88767	0.0:0.0:1.0:0.0	.	119	Q14CS0	UBX2B_HUMAN	E	119	ENSP00000382507:G119E	ENSP00000382507:G119E	G	+	2	0	UBXN2B	59508289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.528000	0.81941	2.660000	0.90430	0.655000	0.94253	GGA	UBXN2B	-	NULL		0.294	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2B	HGNC	protein_coding	OTTHUMT00000378184.1	G	NM_001077619		59345735	1	no_errors	ENST00000399598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59345735	G	A	59345735	3	1	76	1	0	0	0	0	1	0	0	0	16946	1174	41	1	370	1	UBXN2B	8	59345735	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		59345735	87018287	36	11975										
CNTNAP3	79937	genome.wustl.edu	37	chr9	39149948	39149948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tcccagggggcttttacatcCagagccagagctgttgtcca	11	12	0	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:39149948C>T	ENST00000297668.6	-	10	1577	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G502R|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G502R|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G414R	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	502	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTTTTACATCCAGAGCCAGAG	0.478																																																	0													22	24	23					9																	39149948		2200	4297	6497	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1504G>A	9.37:g.39149948C>T	ENSP00000297668:p.Gly502Arg		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G502R	ENST00000297668.6	37	c.1504	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	c	7.346	0.621817	0.14193	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	3.1	2.19	0.27852	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.70141	0.3190	L	0.46614	1.455	0.31375	N	0.679748	B;B;B	0.24043	0.016;0.096;0.012	B;B;B	0.33295	0.019;0.161;0.02	T	0.63319	-0.6664	9	0.16420	T	0.52	.	9.1874	0.37178	0.0:0.8867:0.0:0.1133	.	502;502;502	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	R	502;502;414;502	ENSP00000297668:G502R;ENSP00000366884:G502R;ENSP00000350863:G414R;ENSP00000366887:G502R	ENSP00000297668:G502R	G	-	1	0	CNTNAP3	39139948	0.004000	0.15560	0.002000	0.10522	0.069000	0.16628	1.041000	0.30291	0.641000	0.30601	0.460000	0.39030	GGA	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.478	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	C	NM_033655		39149948	-1	no_errors	ENST00000297668	ensembl	human	known	70_37	missense	SNP	0.229	T	T	39149948	C	T	39149948	3	4	76	1	0	0	0	0	1	0	0	0	3653	603	21	4	2422	4	CNTNAP3	9	39149948	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09		39149948	102063483	37	11976										
RGS3	5998	genome.wustl.edu	37	chr9	116263868	116263868	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cccgcagccatgaaccgcttCaatgggctctgcaaggtgtg	12	13	2	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:116263868C>A	ENST00000374140.2	+	11	1106				RGS3_ENST00000394646.3_Missense_Mutation_p.F4L|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.F4L|RGS3_ENST00000317613.6_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAACCGCTTCAATGGGCTCT	0.672																																																	0													36	30	32					9																	116263868		2189	4272	6461	SO:0001627	intron_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.897+3508C>A	9.37:g.116263868C>A			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.F4L	ENST00000374140.2	37	c.12	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209398	0.79240	.	.	ENSG00000138835	ENST00000343817;ENST00000394646	T;T	0.60797	0.63;0.16	5.24	5.24	0.73138	.	.	.	.	.	T	0.39911	0.1096	N	0.03608	-0.345	0.80722	D	1	B;B	0.32245	0.275;0.361	B;B	0.35655	0.052;0.207	T	0.50792	-0.8786	9	0.72032	D	0.01	.	16.3403	0.83080	0.0:1.0:0.0:0.0	.	4;4	B3KUB2;P49796-4	.;.	L	4	ENSP00000340284:F4L;ENSP00000378141:F4L	ENSP00000340284:F4L	F	+	3	2	RGS3	115303689	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.910000	0.56371	2.612000	0.88384	0.563000	0.77884	TTC	RGS3	-	NULL		0.672	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	C	NM_017790		116263868	1	no_errors	ENST00000343817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116263868	C	A	116263868	1	1	76	0	1	0	0	0	0	0	0	0	13336	825	29	3		3	RGS3	9	116263868	Intron	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	77113920	116263868	24949563	38	11977										
NOTCH1	4851	genome.wustl.edu	37	chr9	139399191	139399191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cgctgccaccagggagcagcGaggccttcacctggcccagc	13	17	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:139399191G>A	ENST00000277541.6	-	26	5027	c.4952C>T	c.(4951-4953)tCg>tTg	p.S1651L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1651					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGAGCAGCGAGGCCTTCAC	0.736			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													5	6	6					9																	139399191		1791	3832	5623	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4952C>T	9.37:g.139399191G>A	ENSP00000277541:p.Ser1651Leu		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.S1651L	ENST00000277541.6	37	c.4952	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485181	0.26598	.	.	ENSG00000148400	ENST00000277541	D	0.81821	-1.54	4.11	2.13	0.27403	.	0.479090	0.22457	U	0.059804	T	0.60314	0.2259	N	0.14661	0.345	0.19300	N	0.999977	P	0.35307	0.494	B	0.30495	0.116	T	0.49969	-0.8882	10	0.35671	T	0.21	.	7.7851	0.29087	0.0942:0.1646:0.7412:0.0	.	1651	P46531	NOTC1_HUMAN	L	1651	ENSP00000277541:S1651L	ENSP00000277541:S1651L	S	-	2	0	NOTCH1	138519012	0.013000	0.17824	0.004000	0.12327	0.259000	0.26198	1.551000	0.36233	0.168000	0.19655	0.579000	0.79373	TCG	NOTCH1	-	pirsf_Notch		0.736	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139399191	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.005	A	A	139399191	G	A	139399191	3	1	76	1	0	0	0	0	1	0	0	0	10571	1059	37	1	2751	1	NOTCH1	9	139399191	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	23135323	139399191	1814240	39	11978										
NRG3	10718	genome.wustl.edu	37	chr10	83635529	83635529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ccaccccctccgccgggggtGccgcctcctccaggacgccc	11	23	0	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr10:83635529G>A	ENST00000404547.1	+	1	433	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.A145T|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	145	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		cgccGGGGGTGCCGCCTCCTC	0.701																																																	0													29	39	36					10																	83635529		2198	4297	6495	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.433G>A	10.37:g.83635529G>A	ENSP00000384796:p.Ala145Thr		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.A145T	ENST00000404547.1	37	c.433	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607591	0.28623	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.32988	1.43;1.44	2.94	2.01	0.26516	.	0.203527	0.23180	U	0.051024	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.11591	-1.0581	10	0.15066	T	0.55	-16.715	5.172	0.15114	0.1641:0.0:0.8359:0.0	.	145;145	B9EGV5;P56975-4	.;.	T	145	ENSP00000361214:A145T;ENSP00000384796:A145T	ENSP00000361214:A145T	A	+	1	0	NRG3	83625509	0.236000	0.23804	0.998000	0.56505	0.616000	0.37450	1.282000	0.33226	1.651000	0.50673	0.478000	0.44815	GCC	NRG3	-	NULL		0.701	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	G	XM_166086		83635529	1	no_errors	ENST00000404547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83635529	G	A	83635529	3	1	76	1	0	0	0	0	1	0	0	0	10673	1319	46	4	435	4	NRG3	10	83635529	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		83635529	51899218	40	11979										
ST5	6764	genome.wustl.edu	37	chr11	8752742	8752742	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gggagagaactggaggtggaGagactgactgagacctgggg	20	5	0	4			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:8752742G>A	ENST00000534127.1	-	6	480	c.95C>T	c.(94-96)tCt>tTt	p.S32F	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.S32F|ST5_ENST00000357665.1_Missense_Mutation_p.S32F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	32					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGAGGTGGAGAGACTGACTG	0.527																																																	0													16	18	17					11																	8752742		2200	4296	6496	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.95C>T	11.37:g.8752742G>A	ENSP00000433528:p.Ser32Phe		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S32F	ENST00000534127.1	37	c.95	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706971	0.48412	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347;ENST00000533016;ENST00000527516;ENST00000527473;ENST00000530938;ENST00000533471;ENST00000524757;ENST00000527392;ENST00000526828;ENST00000525169	T;T;T	0.10005	2.92;2.92;2.92	5.88	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.61218	1.895	0.58432	D	0.999997	B	0.24721	0.11	B	0.19148	0.024	T	0.01600	-1.1315	10	0.87932	D	0	-6.1542	15.098	0.72250	0.0677:0.0:0.9323:0.0	.	32	P78524	ST5_HUMAN	F	32;32;32;32;62;32;32;32;49;32;32;32;52;32;32;32;32;32;32;32;32	ENSP00000433528:S32F;ENSP00000319678:S32F;ENSP00000350294:S32F	ENSP00000319678:S32F	S	-	2	0	ST5	8709318	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.044000	0.76578	1.512000	0.48834	0.561000	0.74099	TCT	ST5	-	NULL		0.527	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	G	NM_005418		8752742	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8752742	G	A	8752742	3	1	76	1	0	0	0	0	1	0	0	0	15250	942	33	1	3390	1	ST5	11	8752742	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		8752742	126253774	41	11980										
SCUBE2	57758	genome.wustl.edu	37	chr11	9055196	9055196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cacattcagacatattccaaGcttctggggtcttcagggcc	9	12	4	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:9055196G>T	ENST00000309263.3	-	16	2135	c.2063C>A	c.(2062-2064)gCt>gAt	p.A688D	SCUBE2_ENST00000520467.1_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.A717D|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A562D			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	688						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATATTCCAAGCTTCTGGGGT	0.458																																																	0													190	196	194					11																	9055196		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2063C>A	11.37:g.9055196G>T	ENSP00000310658:p.Ala688Asp		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.A717D	ENST00000309263.3	37	c.2150		11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914275	0.92178	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649	T;T;T	0.21932	1.98;1.98;1.98	5.44	5.44	0.79542	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.240220	0.42420	D	0.000714	T	0.53126	0.1777	M	0.91663	3.23	0.51767	D	0.999937	P;P	0.50369	0.934;0.911	P;P	0.58780	0.532;0.845	T	0.63791	-0.6557	10	0.87932	D	0	.	18.0353	0.89301	0.0:0.0:1.0:0.0	.	562;688	Q9NQ36-3;Q9NQ36	.;SCUB2_HUMAN	D	717;688;562	ENSP00000390481:A717D;ENSP00000310658:A688D;ENSP00000415187:A562D	ENSP00000310658:A688D	A	-	2	0	SCUBE2	9011772	1.000000	0.71417	0.970000	0.41538	0.957000	0.61999	7.382000	0.79729	2.561000	0.86390	0.563000	0.77884	GCT	SCUBE2	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt		0.458	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	G	NM_020974		9055196	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9055196	G	T	9055196	3	4	76	1	0	0	0	0	1	0	0	0	13975	971	34	4	964	4	SCUBE2	11	9055196	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	302454	9055196	125951320	42	11981										
C11orf46	120534	genome.wustl.edu	37	chr11	30358265	30358265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ccaagtgtggagctgaatgcCgctgtgaccgcaagtggctg	15	10	0	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:30358265C>T	ENST00000282032.3	+	4	921	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	236	Cys-rich.					cytoplasm (GO:0005737)		p.R236S(1)									AGCTGAATGCCGCTGTGACCG	0.453																																																	1	Substitution - Missense(1)	lung(1)											191	161	171					11																	30358265		2202	4299	6501	SO:0001583	missense	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.706C>T	11.37:g.30358265C>T	ENSP00000282032:p.Arg236Cys		Q5HYH9	Missense_Mutation	SNP	NULL	p.R236C	ENST00000282032.3	37	c.706	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600342	0.66332	.	.	ENSG00000152219	ENST00000282032	T	0.73681	-0.77	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87494	0.2429	10	0.87932	D	0	-36.2645	14.4167	0.67155	0.1474:0.8525:0.0:0.0	.	236	Q8N8R7	CK046_HUMAN	C	236	ENSP00000282032:R236C	ENSP00000282032:R236C	R	+	1	0	C11orf46	30314841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.784000	0.62411	2.709000	0.92574	0.655000	0.94253	CGC	ARL14EP	-	NULL		0.453	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	C	NM_152316		30358265	1	no_errors	ENST00000282032	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30358265	C	T	30358265	3	4	76	1	0	0	0	0	1	0	0	0	1647	652	23	2	716	2	C11orf46	11	30358265	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	21303069	30358265	104648251	43	11982										
OR4C3	256144	genome.wustl.edu	37	chr11	48347444	48347444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tttataccctgagaaatgaaGaggtaaaaaatgccatgaga	9	5	0	4			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:48347444G>A	ENST00000319856.4	+	1	973	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGAAATGAAGAGGTAAAAAA	0.323																																																	0													60	62	62					11																	48347444		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.952G>A	11.37:g.48347444G>A	ENSP00000321419:p.Glu318Lys		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E318K	ENST00000319856.4	37	c.952	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360710	0.82353	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.38077	1.16	5.97	5.05	0.67936	.	0.000000	0.52532	D	0.000066	T	0.55049	0.1896	M	0.81682	2.555	0.36166	D	0.848415	P	0.46706	0.883	P	0.52424	0.698	T	0.70085	-0.4969	10	0.87932	D	0	.	14.9596	0.71147	0.0:0.1437:0.8563:0.0	.	291	Q8NH37	OR4C3_HUMAN	K	318;181	ENSP00000321419:E318K	ENSP00000321419:E318K	E	+	1	0	OR4C3	48304020	1.000000	0.71417	0.657000	0.29651	0.934000	0.57294	6.960000	0.76036	1.515000	0.48885	0.561000	0.74099	GAG	OR4C3	-	prints_GPCR_Rhodpsn		0.323	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	G	NM_001004702		48347444	1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.993	A	A	48347444	G	A	48347444	3	1	76	1	0	0	0	0	1	0	0	0	11074	943	33	1	954	1	OR4C3	11	48347444	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	17989179	48347444	86659072	44	11983										
SCGB1D1	10648	genome.wustl.edu	37	chr11	61959649	61959649	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ctggaagctgttgcagccaaGatggaagtgaagaaatgcgt	14	6	0	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:61959649G>T	ENST00000306238.3	+	2	246	c.177G>T	c.(175-177)aaG>aaT	p.K59N		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	59						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TTGCAGCCAAGATGGAAGTGA	0.418																																																	0													142	136	138					11																	61959649		2202	4299	6501	SO:0001583	missense	10648			AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"Secretoglobins"	18395	protein-coding gene	gene with protein product	"prostatein-like lipophilin A", "lipophilin A (uteroglobin family member)"	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.177G>T	11.37:g.61959649G>T	ENSP00000303070:p.Lys59Asn			Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.K59N	ENST00000306238.3	37	c.177	CCDS8015.1	11	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417537	0.42918	.	.	ENSG00000168515	ENST00000306238	T	0.15718	2.4	3.88	-6.33	0.01988	.	0.432551	0.16062	U	0.231409	T	0.19846	0.0477	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.58130	0.833	T	0.01771	-1.1277	9	0.46703	T	0.11	.	3.5894	0.07983	0.5883:0.122:0.1669:0.1228	.	59	O95968	SG1D1_HUMAN	N	59	ENSP00000303070:K59N	ENSP00000303070:K59N	K	+	3	2	SCGB1D1	61716225	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-2.085000	0.01362	-1.581000	0.01642	0.655000	0.94253	AAG	SCGB1D1	-	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin		0.418	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D1	HGNC	protein_coding	OTTHUMT00000394856.1	G	NM_006552		61959649	1	no_errors	ENST00000306238	ensembl	human	known	70_37	missense	SNP	0.000	T	T	61959649	G	T	61959649	3	4	76	1	0	0	0	0	1	0	0	0	13926	933	33	3	183	3	SCGB1D1	11	61959649	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	13612205	61959649	73046867	45	11984										
ATF7IP	55729	genome.wustl.edu	37	chr12	14613933	14613933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tgtacaagccacaaggacttCtttacccacagtgggcccat	8	13	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:14613933C>T	ENST00000540793.1	+	8	2818	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S887F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S887F|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S896F|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S888F			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	888					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACAAGGACTTCTTTACCCACA	0.458																																																	0													54	51	52					12																	14613933		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2663C>T	12.37:g.14613933C>T	ENSP00000444589:p.Ser888Phe		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S888F	ENST00000540793.1	37	c.2663	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366918	0.82463	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22945	2.08;1.93;2.08;2.08;2.08	6.02	6.02	0.97574	.	0.175900	0.41294	D	0.000915	T	0.48021	0.1477	L	0.56769	1.78	0.53688	D	0.999973	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.63192	0.912;0.912;0.912;0.912	T	0.10086	-1.0645	9	.	.	.	-15.0096	20.5373	0.99239	0.0:1.0:0.0:0.0	.	887;888;887;499	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	F	888;887;887;896;888	ENSP00000261168:S888F;ENSP00000443179:S887F;ENSP00000445955:S887F;ENSP00000440440:S896F;ENSP00000444589:S888F	.	S	+	2	0	ATF7IP	14505200	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.252000	0.65445	2.857000	0.98124	0.650000	0.86243	TCT	ATF7IP	-	NULL		0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	C	NM_018179		14613933	1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14613933	C	T	14613933	3	4	76	1	0	0	0	0	1	0	0	0	1088	913	32	1	2693	1	ATF7IP	12	14613933	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09		14613933	119237962	46	11985										
GAS2L3	283431	genome.wustl.edu	37	chr12	100994246	100994246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ttggctaatgtttgtcagtaCgatgagtggatagctgtgag	14	4	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:100994246C>T	ENST00000539410.1	+	3	491	c.105C>T	c.(103-105)taC>taT	p.Y35Y	GAS2L3_ENST00000266754.5_Silent_p.Y35Y|GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Silent_p.Y35Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	35					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTGTCAGTACGATGAGTGGA	0.443																																																	0													184	163	170					12																	100994246		2203	4300	6503	SO:0001819	synonymous_variant	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.105C>T	12.37:g.100994246C>T			B2RCN2	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Y35	ENST00000539410.1	37	c.105	CCDS9079.1	12																																																																																			GAS2L3	-	NULL		0.443	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	C	NM_174942		100994246	1	no_errors	ENST00000266754	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100994246	C	T	100994246	2	4	76	1	0	0	0	0	0	0	0	1	6267	547	19	2		2	GAS2L3	12	100994246	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	86380313	100994246	32857649	47	11986										
NFYB	4801	genome.wustl.edu	37	chr12	104514219	104514219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	aaccataacattttgttgttGaccgtctgtggttattaagc	8	7	1	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:104514219G>C	ENST00000240055.3	-	7	777	c.550C>G	c.(550-552)Caa>Gaa	p.Q184E	NFYB_ENST00000551727.1_Missense_Mutation_p.Q184E	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	184	C domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTTGTTGTTGACCGTCTGTG	0.343																																																	0													258	254	255					12																	104514219		2203	4300	6503	SO:0001583	missense	4801				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.550C>G	12.37:g.104514219G>C	ENSP00000240055:p.Gln184Glu		A8K7B9|Q96IY8	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	p.Q184E	ENST00000240055.3	37	c.550	CCDS9098.1	12	.	.	.	.	.	.	.	.	.	.	.	16.91	3.253346	0.59212	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.45668	0.89;0.89	5.36	4.47	0.54385	Histone-fold (1);	0.049583	0.85682	D	0.000000	T	0.37625	0.1010	M	0.67953	2.075	0.58432	D	0.999998	P	0.39216	0.664	B	0.26864	0.074	T	0.31052	-0.9957	10	0.33940	T	0.23	-19.3961	15.6252	0.76851	0.0:0.0:0.8614:0.1385	.	184	P25208	NFYB_HUMAN	E	184	ENSP00000240055:Q184E;ENSP00000447486:Q184E	ENSP00000240055:Q184E	Q	-	1	0	NFYB	103038349	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	7.530000	0.81962	1.283000	0.44513	-0.234000	0.12200	CAA	NFYB	-	superfamily_Histone-fold		0.343	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	G			104514219	-1	no_errors	ENST00000240055	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104514219	G	C	104514219	3	2	76	1	0	0	0	0	1	0	0	0	10414	1299	45	1	81	1	NFYB	12	104514219	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	3519973	104514219	29337676	48	11987										
MAPKAPK5	8550	genome.wustl.edu	37	chr12	112327921	112327921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gggaatgcaaactcctaagaGatactctgcagagcttcagc	10	10	2	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:112327921G>C	ENST00000551404.2	+	13	1408	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.D432H			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	434					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						ACTCCTAAGAGATACTCTGCA	0.428																																																	0													62	60	61					12																	112327921		1899	4121	6020	SO:0001583	missense	8550			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1300G>C	12.37:g.112327921G>C	ENSP00000449381:p.Asp434His		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D434H	ENST00000551404.2	37	c.1300	CCDS44975.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029076	0.93518	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111;ENST00000547067	T;T	0.56941	0.43;0.43	5.86	5.86	0.93980	.	0.040721	0.85682	D	0.000000	T	0.51924	0.1703	N	0.19112	0.55	0.80722	D	1	D;P;P	0.56521	0.976;0.7;0.801	P;B;P	0.50708	0.648;0.264;0.452	T	0.55016	-0.8206	10	0.59425	D	0.04	.	20.1854	0.98212	0.0:0.0:1.0:0.0	.	428;434;432	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	H	432;434;432;434;115;95	ENSP00000449667:D432H;ENSP00000449381:D434H	ENSP00000202788:D434H	D	+	1	0	MAPKAPK5	110812304	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.471000	0.97696	2.772000	0.95346	0.585000	0.79938	GAT	MAPKAPK5	-	NULL		0.428	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5	HGNC	protein_coding	OTTHUMT00000405019.2	G	NM_139078		112327921	1	no_errors	ENST00000202788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112327921	G	C	112327921	3	2	76	1	0	0	0	0	1	0	0	0	9314	942	33	1	1350	1	MAPKAPK5	12	112327921	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	7813702	112327921	21523974	49	11988										
RAD51L1	5890	genome.wustl.edu	37	chr14	68290309	68290309	+	Missense_Mutation	SNP	G	G	T													0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtttatcacaagagctgtgtGaccgtctgagtagacatcag							TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr14:68290309G>T	ENST00000487270.1	+	2	97	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	RAD51B_ENST00000471583.1_Missense_Mutation_p.D17Y|RAD51B_ENST00000390683.3_Missense_Mutation_p.D17Y|RAD51B_ENST00000487861.1_Missense_Mutation_p.D17Y|RAD51B_ENST00000488612.1_Missense_Mutation_p.D17Y	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	17	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGCTGTGTGACCGTCTGAG	0.348								Direct reversal of damage																																									0													130	121	124					14																	68290309		2203	4300	6503	SO:0001583	missense	5890			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.49G>T	14.37:g.68290309G>T	ENSP00000419471:p.Asp17Tyr		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.D17Y	ENST00000487270.1	37	c.49	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090817	0.76756	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.56275	0.91;0.91;0.91;0.91;0.91;0.47;0.91	5.49	5.49	0.81192	.	0.138830	0.47455	D	0.000226	T	0.48077	0.1480	N	0.24115	0.695	0.40454	D	0.980177	D;P;P;P;P;B	0.57571	0.98;0.898;0.895;0.906;0.771;0.377	P;P;P;P;B;B	0.47705	0.543;0.45;0.555;0.459;0.431;0.382	T	0.54807	-0.8238	10	0.87932	D	0	.	16.641	0.85127	0.0:0.0:1.0:0.0	.	17;17;17;17;17;17	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	Y	17	ENSP00000419881:D17Y;ENSP00000418859:D17Y;ENSP00000419471:D17Y;ENSP00000420061:D17Y;ENSP00000417948:D17Y;ENSP00000452044:D17Y;ENSP00000375101:D17Y	ENSP00000343531:D17Y	D	+	1	0	RAD51B	67360062	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.319000	0.59197	2.727000	0.93392	0.563000	0.77884	GAC	RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.348	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	G			68290309	1	no_errors	ENST00000487270	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68290309	G	T	68290309	3	4	76	1	0	0	0	0	1	0	0	0	13019	1290	45	3	51	3	RAD51L1	14	68290309	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		68290309	39059231	50	11989	65	2								
RAD51L1	5890	genome.wustl.edu	37	chr14	68290317	68290317	+	Silent	SNP	G	G	A													0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	caagagctgtgtgaccgtctGagtagacatcagatccttac							TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr14:68290317G>A	ENST00000487270.1	+	2	105	c.57G>A	c.(55-57)ctG>ctA	p.L19L	RAD51B_ENST00000471583.1_Silent_p.L19L|RAD51B_ENST00000390683.3_Silent_p.L19L|RAD51B_ENST00000487861.1_Silent_p.L19L|RAD51B_ENST00000488612.1_Silent_p.L19L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	19	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGACCGTCTGAGTAGACATC	0.348								Direct reversal of damage																																									0													123	115	117					14																	68290317		2203	4300	6503	SO:0001819	synonymous_variant	5890			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.57G>A	14.37:g.68290317G>A			O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L19	ENST00000487270.1	37	c.57	CCDS9789.1	14																																																																																			RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.348	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	G			68290317	1	no_errors	ENST00000487270	ensembl	human	known	70_37	silent	SNP	0.852	A	A	68290317	G	A	68290317	2	1	76	1	0	0	0	0	0	0	0	1	13019	1277	45	1		1	RAD51L1	14	68290317	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	8	68290317	39059223	51	11990	65	2								
GSTZ1	2954	genome.wustl.edu	37	chr14	77797494	77797494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tggaggccttccaggtgtctCacccctgccggcagccagat	12	15	1	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr14:77797494C>T	ENST00000556627.1	+	8	657	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	GSTZ1_ENST00000557639.1_Missense_Mutation_p.H148Y|GSTZ1_ENST00000349555.3_Missense_Mutation_p.H161Y|GSTZ1_ENST00000361389.4_Missense_Mutation_p.H148Y|GSTZ1_ENST00000557053.1_Missense_Mutation_p.H106Y|GSTZ1_ENST00000554279.1_Missense_Mutation_p.H189Y|GSTZ1_ENST00000216465.5_Missense_Mutation_p.H203Y|GSTZ1_ENST00000393734.1_Missense_Mutation_p.H148Y|GSTZ1_ENST00000553586.1_Missense_Mutation_p.H204Y			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	203	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCAGGTGTCTCACCCCTGCCG	0.597																																																	0													71	64	66					14																	77797494		2203	4300	6503	SO:0001583	missense	2954			U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"Glutathione S-transferases / Soluble"	4643	protein-coding gene	gene with protein product	"maleylacetoacetate isomerase"	603758	"glutathione transferase zeta 1"			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.526C>T	14.37:g.77797494C>T	ENSP00000450487:p.His176Tyr		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom	p.H203Y	ENST00000556627.1	37	c.607		14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311832	0.81358	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.48	5.48	0.80851	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68943	0.961;0.952	T	0.74266	-0.3721	10	0.39692	T	0.17	2.1128	16.2646	0.82568	0.0:1.0:0.0:0.0	.	161;203	A6NED0;O43708	.;MAAI_HUMAN	Y	203;148;189;148;161;176;106;148;204	ENSP00000216465:H203Y;ENSP00000354959:H148Y;ENSP00000452498:H189Y;ENSP00000451927:H148Y;ENSP00000314404:H161Y;ENSP00000450487:H176Y;ENSP00000451150:H106Y;ENSP00000377335:H148Y;ENSP00000451976:H204Y	ENSP00000216465:H203Y	H	+	1	0	GSTZ1	76867247	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.702000	0.68332	2.568000	0.86640	0.563000	0.77884	CAC	GSTZ1	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom		0.597	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	GSTZ1	HGNC	protein_coding	OTTHUMT00000414090.1	C	NM_145870		77797494	1	no_errors	ENST00000216465	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77797494	C	T	77797494	3	4	76	1	0	0	0	0	1	0	0	0	6868	826	29	1	641	1	GSTZ1	14	77797494	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	9507177	77797494	29552046	52	11991										
SNAP23	8773	genome.wustl.edu	37	chr15	42821973	42821973	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tggccctgaacataggcaatGagattgatgctcaaaatcca	9	9	1	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr15:42821973G>T	ENST00000249647.3	+	7	994	c.526G>T	c.(526-528)Gag>Tag	p.E176*	RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.E123*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.E123*|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	176	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CATAGGCAATGAGATTGATGC	0.393																																																	0													105	98	100					15																	42821973		2203	4299	6502	SO:0001587	stop_gained	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.526G>T	15.37:g.42821973G>T	ENSP00000249647:p.Glu176*		O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E176*	ENST00000249647.3	37	c.526	CCDS10087.1	15	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105039	0.56291	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5869	19.6503	0.95798	0.0:0.0:1.0:0.0	.	.	.	.	X	176;123;123	.	ENSP00000249647:E176X	E	+	1	0	SNAP23	40609265	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	9.395000	0.97266	2.803000	0.96430	0.655000	0.94253	GAG	SNAP23	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.393	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP23	HGNC	protein_coding	OTTHUMT00000253111.4	G	NM_003825		42821973	1	no_errors	ENST00000249647	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	42821973	G	T	42821973	4	4	76	1	0	0	0	0	0	1	0	0	14859	1291	45	3	548	3	SNAP23	15	42821973	Nonsense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		42821973	59709419	53	11992										
NTRK3	4916	genome.wustl.edu	37	chr15	88576247	88576247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtgcagtgggctggctgagtCctcctcaccactgatgacag	13	12	1	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr15:88576247C>T	ENST00000360948.2	-	13	1587	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	NTRK3_ENST00000542733.2_Missense_Mutation_p.D378N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D468N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D476N|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.D476N|NTRK3_ENST00000317501.3_Missense_Mutation_p.D476N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D468N|NTRK3_ENST00000394480.2_Missense_Mutation_p.D476N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D468N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	476					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGGCTGAGTCCTCCTCACCA	0.622			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													83	51	62					15																	88576247		2201	4298	6499	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1426G>A	15.37:g.88576247C>T	ENSP00000354207:p.Asp476Asn		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D476N	ENST00000360948.2	37	c.1426	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.134244	0.94517	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74106	-0.81;-0.76;-0.72;-0.81;-0.69;-0.22;-0.22	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.991;0.988;0.991;1.0;0.993;0.996	P;P;D;D;P;D	0.83275	0.734;0.761;0.937;0.996;0.88;0.937	D	0.86949	0.2084	10	0.56958	D	0.05	.	16.3963	0.83605	0.0:1.0:0.0:0.0	.	378;468;468;476;476;476	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	N	476;476;468;476;378;476;476	ENSP00000377990:D476N;ENSP00000354207:D476N;ENSP00000350356:D468N;ENSP00000347397:D476N;ENSP00000437773:D378N;ENSP00000444673:D476N;ENSP00000318328:D476N	ENSP00000318328:D476N	D	-	1	0	NTRK3	86377251	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.455000	0.66658	2.329000	0.79093	0.650000	0.86243	GAC	NTRK3	-	NULL		0.622	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		C			88576247	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88576247	C	T	88576247	3	4	76	1	0	0	0	0	1	0	0	0	10732	855	30	1	1383	1	NTRK3	15	88576247	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	45754274	88576247	13955145	54	11993										
PCSK6	5046	genome.wustl.edu	37	chr15	101858545	101858545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cacgcaggttccgcaggtgtGatggcattccccacatctga	11	13	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr15:101858545G>A	ENST00000348070.1	-	20	2544	c.2545C>T	c.(2545-2547)Cac>Tac	p.H849Y	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.H836Y	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	850	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCGCAGGTGTGATGGCATTCC	0.592																																																	0													48	52	51					15																	101858545		2087	4173	6260	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2545C>T	15.37:g.101858545G>A	ENSP00000305056:p.His849Tyr		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.H849Y	ENST00000348070.1	37	c.2545		15	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595661	0.46318	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.62105	0.05;0.05	5.35	1.95	0.26073	Growth factor, receptor (2);	0.990465	0.08214	N	0.980172	T	0.37999	0.1024	N	0.02368	-0.58	0.80722	D	1	P;P;P;P;B	0.50272	0.734;0.837;0.933;0.795;0.404	B;B;P;B;B	0.47206	0.091;0.129;0.541;0.388;0.158	T	0.16571	-1.0398	10	0.36615	T	0.2	-4.2226	2.9148	0.05749	0.3452:0.2304:0.4244:0.0	.	850;681;837;850;836	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	Y	849;836;680	ENSP00000305056:H849Y;ENSP00000351193:H836Y	ENSP00000305056:H849Y	H	-	1	0	PCSK6	99676068	0.885000	0.30320	0.872000	0.34217	0.937000	0.57800	0.645000	0.24782	0.590000	0.29694	0.462000	0.41574	CAC	PCSK6	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom		0.592	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		G	NM_002570		101858545	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	missense	SNP	0.983	A	A	101858545	G	A	101858545	3	1	76	1	0	0	0	0	1	0	0	0	11628	1290	45	1	606	1	PCSK6	15	101858545	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	13282298	101858545	672847	55	11994										
ZNF720	124411	genome.wustl.edu	37	chr16	31765213	31765213	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	aaacttaaggaaagagtgggAaagtgagggtaagtgtgaag	16	1	0	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr16:31765213A>T	ENST00000316491.9	+	4	552	c.353A>T	c.(352-354)gAa>gTa	p.E118V	ZNF720_ENST00000399681.3_Missense_Mutation_p.E52V|ZNF720_ENST00000539915.1_Missense_Mutation_p.E48V|ZNF720_ENST00000398696.3_Missense_Mutation_p.E48V|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_3'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	118					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AAAGAGTGGGAAAGTGAGGGT	0.378																																																	0													110	98	102					16																	31765213		692	1591	2283	SO:0001583	missense	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"Zinc fingers, C2H2-type", "-"	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.353A>T	16.37:g.31765213A>T	ENSP00000319222:p.Glu118Val		Q6ZQX1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E52V	ENST00000316491.9	37	c.155	CCDS45473.1	16	.	.	.	.	.	.	.	.	.	.	a	11.46	1.645389	0.29246	.	.	ENSG00000197302	ENST00000539915;ENST00000316491;ENST00000399681;ENST00000398696;ENST00000529515	T;T;T;T;T	0.58797	0.31;5.83;2.96;3.94;5.83	0.673	0.673	0.17941	.	.	.	.	.	T	0.69160	0.3080	M	0.78916	2.43	0.09310	N	1	B;B;D;D	0.60575	0.39;0.019;0.978;0.988	B;B;P;P	0.60345	0.255;0.007;0.853;0.873	T	0.57596	-0.7784	8	0.87932	D	0	.	.	.	.	.	52;52;48;118	F5GYB6;B7Z5S2;Q7Z2F6-2;Q7Z2F6	.;.;.;ZN720_HUMAN	V	48;118;52;48;118	ENSP00000441893:E48V;ENSP00000319222:E118V;ENSP00000440701:E52V;ENSP00000443758:E48V;ENSP00000437310:E118V	ENSP00000319222:E118V	E	+	2	0	ZNF720	31672714	0.227000	0.23707	0.002000	0.10522	0.017000	0.09413	0.142000	0.16096	0.543000	0.28864	0.374000	0.22700	GAA	ZNF720	-	NULL		0.378	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	A	NM_001004300		31765213	1	no_errors	ENST00000399681	ensembl	human	known	70_37	missense	SNP	0.052	T	T	31765213	A	T	31765213	3	4	76	1	0	0	0	0	1	0	0	0	18151	246	9	5	367	5	ZNF720	16	31765213	Missense_Mutation	SNP	A	TCGA-EA-A3QE-01A-21D-A21Q-09		31765213	58589540	56	11995										
ERBB2	2064	genome.wustl.edu	37	chr17	37884255	37884255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	accttcaaagggacacctacGgcagagaacccagagtacct	9	13	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:37884255G>A	ENST00000269571.5	+	27	3885	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T	ERBB2_ENST00000584601.1_Silent_p.T1212T|ERBB2_ENST00000406381.2_Silent_p.T1212T|ERBB2_ENST00000540147.1_Silent_p.T1212T|ERBB2_ENST00000541774.1_Silent_p.T1227T|ERBB2_ENST00000445658.2_Silent_p.T966T|MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1242					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGACACCTACGGCAGAGAACC	0.617		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0																																										SO:0001819	synonymous_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3726G>A	17.37:g.37884255G>A			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1242	ENST00000269571.5	37	c.3726	CCDS32642.1	17																																																																																			ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37884255	1	no_errors	ENST00000269571	ensembl	human	known	70_37	silent	SNP	0.609	A	A	37884255	G	A	37884255	2	1	76	1	0	0	0	0	0	0	0	1	5218	1103	39	2		2	ERBB2	17	37884255	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		37884255	43310955	57	11996										
MPO	4353	genome.wustl.edu	37	chr17	56357796	56357796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ccatggagctcagcaccaacGaggtgtccacctcccccagg	10	17	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:56357796G>A	ENST00000225275.3	-	2	355	c.179C>T	c.(178-180)tCg>tTg	p.S60L	MPO_ENST00000340482.3_Missense_Mutation_p.S60L|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	60					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CAGCACCAACGAGGTGTCCAC	0.647																																																	0													52	46	48					17																	56357796		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.179C>T	17.37:g.56357796G>A	ENSP00000225275:p.Ser60Leu		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S60L	ENST00000225275.3	37	c.179	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545121	0.45280	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71934	-0.61;-0.5	5.57	4.6	0.57074	.	0.593663	0.14924	N	0.290472	T	0.61362	0.2341	L	0.52905	1.665	0.09310	N	0.999997	P	0.40332	0.713	B	0.34242	0.178	T	0.61402	-0.7070	10	0.66056	D	0.02	-8.9805	8.0671	0.30667	0.0792:0.0:0.7618:0.159	.	60	P05164	PERM_HUMAN	L	60	ENSP00000344419:S60L;ENSP00000225275:S60L	ENSP00000225275:S60L	S	-	2	0	MPO	53712795	0.388000	0.25197	0.674000	0.29902	0.446000	0.32137	3.701000	0.54793	2.618000	0.88619	0.561000	0.74099	TCG	MPO	-	NULL		0.647	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	G			56357796	-1	no_errors	ENST00000340482	ensembl	human	known	70_37	missense	SNP	0.026	A	A	56357796	G	A	56357796	3	1	76	1	0	0	0	0	1	0	0	0	9755	1059	37	1	2102	1	MPO	17	56357796	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	18473541	56357796	24837414	58	11997										
SEC14L1	6397	genome.wustl.edu	37	chr17	75205475	75205475	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	aatctctgtaccggactgcaGaggagctggagaacgaagac	13	9	1	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:75205475G>A	ENST00000413679.2	+	14	1831	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEC14L1_ENST00000430767.4_Missense_Mutation_p.E510K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E510K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E510K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E510K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E510K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E476K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E476K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	510					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCGGACTGCAGAGGAGCTGGA	0.547																																																	0													84	70	75					17																	75205475		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1528G>A	17.37:g.75205475G>A	ENSP00000394716:p.Glu510Lys		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.E510K	ENST00000413679.2	37	c.1528	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.474463	0.96291	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.71579	-0.46;-0.46;-0.46;-0.46;-0.46;-0.58	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	M	0.76574	2.34	0.80722	D	1	P;P;P	0.50528	0.895;0.936;0.895	P;P;P	0.53954	0.652;0.738;0.652	T	0.80004	-0.1564	10	0.40728	T	0.16	-48.8744	18.3308	0.90268	0.0:0.0:1.0:0.0	.	510;510;510	A5PLM6;Q92503-2;Q92503	.;.;S14L1_HUMAN	K	510;510;510;510;510;476	ENSP00000376268:E510K;ENSP00000406030:E510K;ENSP00000390392:E510K;ENSP00000408169:E510K;ENSP00000394716:E510K;ENSP00000389838:E476K	ENSP00000376268:E510K	E	+	1	0	SEC14L1	72717070	1.000000	0.71417	0.954000	0.39281	0.940000	0.58332	9.375000	0.97178	2.553000	0.86117	0.655000	0.94253	GAG	SEC14L1	-	superfamily_CRAL-TRIO_dom		0.547	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	G	NM_003003		75205475	1	no_errors	ENST00000392476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75205475	G	A	75205475	3	1	76	1	0	0	0	0	1	0	0	0	14011	943	33	1	1574	1	SEC14L1	17	75205475	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	18847679	75205475	5989735	59	11998										
DCC	1630	genome.wustl.edu	37	chr18	50866187	50866187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	acccaaacatcgtggtgcgaGgttatattatcggttatggc	11	8	0	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr18:50866187G>A	ENST00000442544.2	+	15	2885	c.2269G>A	c.(2269-2271)Ggt>Agt	p.G757S	DCC_ENST00000581580.1_Missense_Mutation_p.G412S|DCC_ENST00000412726.1_Missense_Mutation_p.G605S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	757	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGTGGTGCGAGGTTATATTAT	0.488																																																	0													207	171	183					18																	50866187		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2269G>A	18.37:g.50866187G>A	ENSP00000389140:p.Gly757Ser			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G757S	ENST00000442544.2	37	c.2269	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538318	0.65085	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.60040	0.22;0.22	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78978	0.4369	M	0.86178	2.8	0.58432	D	0.999999	D;D;D	0.67145	0.986;0.986;0.996	D;D;D	0.76071	0.978;0.978;0.987	T	0.81609	-0.0855	10	0.56958	D	0.05	.	17.7948	0.88566	0.0:0.0:1.0:0.0	.	605;605;757	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	757;690;605	ENSP00000389140:G757S;ENSP00000397322:G605S	ENSP00000304146:G690S	G	+	1	0	DCC	49120185	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.504000	0.97986	2.565000	0.86533	0.655000	0.94253	GGT	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50866187	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50866187	G	A	50866187	3	1	76	1	0	0	0	0	1	0	0	0	4287	1000	35	4	2327	4	DCC	18	50866187	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		50866187	27211061	60	11999										
CD226	10666	genome.wustl.edu	37	chr18	67563262	67563262	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	acaatgtggctatttgatggCacagctgcctcaaaactatc	8	10	1	1			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr18:67563262C>A	ENST00000280200.4	-	4	670	c.402G>T	c.(400-402)gtG>gtT	p.V134V	CD226_ENST00000581982.1_5'UTR|CD226_ENST00000582621.1_Silent_p.V134V|CD226_ENST00000577287.1_5'UTR	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	134					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TATTTGATGGCACAGCTGCCT	0.423																																					NSCLC(184;838 2130 8673 21498 50749)												0													70	58	62					18																	67563262		2203	4300	6503	SO:0001819	synonymous_variant	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.402G>T	18.37:g.67563262C>A			B2R818	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V134	ENST00000280200.4	37	c.402	CCDS11997.1	18																																																																																			CD226	-	NULL		0.423	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	C	NM_006566		67563262	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	silent	SNP	0.000	A	A	67563262	C	A	67563262	2	1	76	1	0	0	0	0	0	0	0	1	2991	697	25	4		4	CD226	18	67563262	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	16697075	67563262	10513986	61	12000										
C19orf47	126526	genome.wustl.edu	37	chr19	40827897	40827897	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	ccccggggccccaccagagtCctcttaatggtgaccttgac	10	16	1	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr19:40827897C>T	ENST00000582783.1	-	9	1173	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	C19orf47_ENST00000392035.2_Silent_p.R320R|C19orf47_ENST00000584868.1_Intron	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	387						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCACCAGAGTCCTCTTAATGG	0.647																																																	0													40	37	38					19																	40827897		2203	4300	6503	SO:0001819	synonymous_variant	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1161G>A	19.37:g.40827897C>T			Q8IZ33|Q8N0V9	Silent	SNP	superfamily_SAM/pointed	p.R387	ENST00000582783.1	37	c.1161	CCDS58662.1	19																																																																																			C19orf47	-	NULL		0.647	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf47	HGNC	protein_coding	OTTHUMT00000444488.1	C	NM_178830		40827897	-1	no_errors	ENST00000582783	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40827897	C	T	40827897	2	4	76	1	0	0	0	0	0	0	0	1	1935	854	30	1		1	C19orf47	19	40827897	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09		40827897	18301086	62	12001										
NLRP12	91662	genome.wustl.edu	37	chr19	54308691	54308691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gcaggctgagctggagatgcGgcacctcttcagcctggggt	16	11	2	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr19:54308691G>A	ENST00000324134.6	-	5	2425	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	NLRP12_ENST00000391775.3_Missense_Mutation_p.R753C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R753C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R754C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R754C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R754C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R753C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R753C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	753					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGAGATGCGGCACCTCTTC	0.468																																																	0													78	79	79					19																	54308691		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2257C>T	19.37:g.54308691G>A	ENSP00000319377:p.Arg753Cys		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R753C	ENST00000324134.6	37	c.2257	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781563	0.16120	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	3.12	-4.21	0.03812	.	.	.	.	.	T	0.39118	0.1066	L	0.53561	1.675	0.09310	N	1	B;B;B;B;B	0.20780	0.006;0.048;0.003;0.011;0.003	B;B;B;B;B	0.15870	0.003;0.014;0.002;0.002;0.002	T	0.29488	-1.0010	9	0.37606	T	0.19	.	4.3534	0.11167	0.4361:0.1673:0.3967:0.0	.	754;36;753;753;753	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	C	753;753;753;753;36;753;754;754;754	ENSP00000319377:R753C;ENSP00000438030:R753C;ENSP00000340473:R753C;ENSP00000346231:R753C;ENSP00000375655:R753C;ENSP00000375653:R754C;ENSP00000375652:R754C	ENSP00000319377:R753C	R	-	1	0	NLRP12	59000503	0.000000	0.05858	0.006000	0.13384	0.442000	0.32017	-1.827000	0.01704	-0.818000	0.04329	-0.920000	0.02741	CGC	NLRP12	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.468	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54308691	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	missense	SNP	0.001	A	A	54308691	G	A	54308691	3	1	76	1	0	0	0	0	1	0	0	0	10498	1116	39	2	952	2	NLRP12	19	54308691	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	13480794	54308691	4820292	63	12002										
GP6	51206	genome.wustl.edu	37	chr19	55543646	55543646	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	tcctggtacctgctggaactCagcttctccaggcggtacag	11	13	2	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr19:55543646C>T	ENST00000417454.1	-	3	213	c.186G>A	c.(184-186)ctG>ctA	p.L62L	CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000310373.3_Silent_p.L62L|GP6_ENST00000333884.2_Silent_p.L62L|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	62	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGCTGGAACTCAGCTTCTCCA	0.642																																																	0													57	62	60					19																	55543646		1976	4152	6128	SO:0001819	synonymous_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.186G>A	19.37:g.55543646C>T			Q9HCN7|Q9UIF2	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.L62	ENST00000417454.1	37	c.186	CCDS46184.1	19																																																																																			GP6	-	smart_Ig_sub,smart_Ig_sub2		0.642	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	C			55543646	-1	no_errors	ENST00000310373	ensembl	human	known	70_37	silent	SNP	0.032	T	T	55543646	C	T	55543646	2	4	76	1	0	0	0	0	0	0	0	1	6603	813	29	1		1	GP6	19	55543646	Silent	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	1234955	55543646	3585337	64	12003										
CST3	1471	genome.wustl.edu	37	chr20	23614632	23614632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	agatctggaaagagcagaatGctttctgtgaaaggaaacag	12	5	2	4			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr20:23614632G>T	ENST00000398411.1	-	3	444	c.362C>A	c.(361-363)gCa>gAa	p.A121E	CST3_ENST00000376925.3_Missense_Mutation_p.A121E|CST3_ENST00000398409.1_Missense_Mutation_p.A121E|RP11-218C14.8_ENST00000602977.1_lincRNA			P01034	CYTC_HUMAN	cystatin C	121					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGAGCAGAATGCTTTCTGTGA	0.537																																																	0													147	113	125					20																	23614632		2203	4300	6503	SO:0001583	missense	1471				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"cystatin C (amyloid angiopathy and cerebral hemorrhage)"			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.362C>A	20.37:g.23614632G>T	ENSP00000381448:p.Ala121Glu		B2R5J9|D3DW42|Q6FGW9	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.A121E	ENST00000398411.1	37	c.362	CCDS13158.1	20	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892836	0.02491	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	T;T;T	0.25085	1.82;1.82;1.82	2.97	-1.61	0.08399	Proteinase inhibitor I25, cystatin (2);	0.899798	0.09523	N	0.790669	T	0.08313	0.0207	N	0.02665	-0.54	0.09310	N	1	B	0.21606	0.058	B	0.23716	0.048	T	0.32161	-0.9917	10	0.30078	T	0.28	.	2.5308	0.04703	0.2539:0.0:0.3422:0.4039	.	121	P01034	CYTC_HUMAN	E	121	ENSP00000381448:A121E;ENSP00000366124:A121E;ENSP00000381446:A121E	ENSP00000366124:A121E	A	-	2	0	CST3	23562632	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	0.103000	0.15292	-0.292000	0.08999	-0.350000	0.07774	GCA	CST3	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.537	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CST3	HGNC	protein_coding	OTTHUMT00000256831.1	G	NM_000099		23614632	-1	no_errors	ENST00000376925	ensembl	human	known	70_37	missense	SNP	0.000	T	T	23614632	G	T	23614632	3	4	76	1	0	0	0	0	1	0	0	0	3978	1319	46	4	82	4	CST3	20	23614632	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09		23614632	39410888	65	12004										
KIAA0406	9675	genome.wustl.edu	37	chr20	36641902	36641902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	caggtttttgggagctgggtGaatacagacaagcagagagt	15	5	0	3			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr20:36641902G>A	ENST00000373448.2	-	3	555	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TTI1_ENST00000373447.3_Missense_Mutation_p.S106L|TTI1_ENST00000449821.1_Missense_Mutation_p.S106L|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	106					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGAGCTGGGTGAATACAGACA	0.468																																																	0													98	101	100					20																	36641902		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.317C>T	20.37:g.36641902G>A	ENSP00000362547:p.Ser106Leu		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.S106L	ENST00000373448.2	37	c.317	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842682	0.32606	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.71934	-0.61;-0.61;-0.61	5.33	3.41	0.39046	Armadillo-like helical (1);Armadillo-type fold (1);	0.143577	0.49916	D	0.000135	T	0.60996	0.2312	L	0.58669	1.825	0.41790	D	0.989868	P	0.34462	0.454	B	0.27715	0.082	T	0.57063	-0.7875	10	0.26408	T	0.33	-20.6401	10.9817	0.47499	0.1496:0.0:0.8504:0.0	.	106	O43156	TTI1_HUMAN	L	106	ENSP00000362547:S106L;ENSP00000362546:S106L;ENSP00000407270:S106L	ENSP00000362546:S106L	S	-	2	0	TTI1	36075316	1.000000	0.71417	0.702000	0.30337	0.635000	0.38103	8.301000	0.89951	0.834000	0.34852	-0.136000	0.14681	TCA	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	G	NM_014657		36641902	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	missense	SNP	0.988	A	A	36641902	G	A	36641902	3	1	76	1	0	0	0	0	1	0	0	0	8193	1294	45	1	2980	1	KIAA0406	20	36641902	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	13027270	36641902	26383618	66	12005										
EGFL6	25975	genome.wustl.edu	37	chrX	13645279	13645279	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gagacaaagtcgggaaacttCgagtgtttgtgaaaaacagt	12	5	0	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:13645279C>T	ENST00000361306.1	+	11	1692	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.R480*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	479	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CGGGAAACTTCGAGTGTTTGT	0.473																																																	0													124	112	116					X																	13645279		2203	4300	6503	SO:0001587	stop_gained	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1435C>T	X.37:g.13645279C>T	ENSP00000355126:p.Arg479*		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Nonsense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R480*	ENST00000361306.1	37	c.1438	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.911777	0.97928	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	4.85	1.62	0.23740	.	0.173488	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5499	0.33444	0.3722:0.548:0.0:0.0797	.	.	.	.	X	479;480	.	ENSP00000355126:R479X	R	+	1	2	EGFL6	13555200	0.681000	0.27614	0.998000	0.56505	0.992000	0.81027	0.683000	0.25349	0.302000	0.22762	0.600000	0.82982	CGA	EGFL6	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.473	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	C	NM_015507		13645279	1	no_errors	ENST00000380602	ensembl	human	known	70_37	nonsense	SNP	0.990	T	T	13645279	C	T	13645279	4	4	76	1	0	0	0	0	0	1	0	0	4973	876	31	1	1480	1	EGFL6	23	13645279	Nonsense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09		13645279	141625281	67	12006										
CENPI	2491	genome.wustl.edu	37	chrX	100402754	100402754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtttgttttttctgttagatAtcgtaaaaatttgactgccg	8	5	1	2			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:100402754A>G	ENST00000372927.1	+	18	2106	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	CENPI_ENST00000218507.5_Missense_Mutation_p.Y610C|CENPI_ENST00000423383.1_Missense_Mutation_p.Y610C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	610					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTGTTAGATATCGTAAAAAT	0.269																																																	0													60	52	55					X																	100402754		2203	4295	6498	SO:0001583	missense	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1829A>G	X.37:g.100402754A>G	ENSP00000362018:p.Tyr610Cys		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.Y610C	ENST00000372927.1	37	c.1829	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062593	0.36373	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.68952	2.095	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79626	-0.1725	9	0.72032	D	0.01	-12.5507	14.0608	0.64800	1.0:0.0:0.0:0.0	.	610;610	B4DZL4;Q92674	.;CENPI_HUMAN	C	610	.	ENSP00000218507:Y610C	Y	+	2	0	CENPI	100289410	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	6.072000	0.71238	1.852000	0.53769	0.437000	0.28790	TAT	CENPI	-	NULL		0.269	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	A	NM_006733		100402754	1	no_errors	ENST00000372927	ensembl	human	known	70_37	missense	SNP	0.997	G	G	100402754	A	G	100402754	3	3	76	1	0	0	0	0	1	0	0	0	3238	449	16	5	1895	5	CENPI	23	100402754	Missense_Mutation	SNP	A	TCGA-EA-A3QE-01A-21D-A21Q-09	86757475	100402754	54867806	68	12007										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130217839	130217839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	gtcaggctgcgggccgtcgtCggggaaacgtggtgcgaagg	20	9	1	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:130217839C>T	ENST00000276211.5	+	4	796	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R139W|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R15W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	151	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGGCCGTCGTCGGGGAAACGT	0.632																																																	0													94	89	91					X																	130217839		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.451C>T	X.37:g.130217839C>T	ENSP00000276211:p.Arg151Trp		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R151W	ENST00000276211.5	37	c.451	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231420	0.39399	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.14516	2.5;2.5;2.52;2.67	3.57	2.71	0.32032	.	0.000000	0.44902	D	0.000407	T	0.18173	0.0436	N	0.19112	0.55	0.27957	N	0.936925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.982	T	0.02031	-1.1226	10	0.87932	D	0	.	6.0435	0.19748	0.0:0.8567:0.0:0.1433	.	120;139;151	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	W	151;139;103;120;15	ENSP00000276211:R151W;ENSP00000359960:R139W;ENSP00000408515:R120W;ENSP00000359959:R15W	ENSP00000276211:R151W	R	+	1	2	ARHGAP36	130045520	1.000000	0.71417	0.998000	0.56505	0.173000	0.22820	2.954000	0.49113	0.872000	0.35775	-0.191000	0.12829	CGG	ARHGAP36	-	NULL		0.632	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130217839	1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	0.997	T	T	130217839	C	T	130217839	3	4	76	1	0	0	0	0	1	0	0	0	883	875	31	1	461	1	ARHGAP36	23	130217839	Missense_Mutation	SNP	C	TCGA-EA-A3QE-01A-21D-A21Q-09	29815085	130217839	25052721	69	12008										
FAM127A	8933	genome.wustl.edu	37	chrX	134166458	134166458	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	aaggccctcctggccttgccGatccggcctgcgacgcgtcg	13	17	0	0			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:134166458G>A	ENST00000257013.7	+	1	126	c.45G>A	c.(43-45)ccG>ccA	p.P15P	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGGCCTTGCCGATCCGGCCTG	0.647																																																	0													71	74	73					X																	134166458		2102	4173	6275	SO:0001819	synonymous_variant	8933			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"CAAX box 1"	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.45G>A	X.37:g.134166458G>A			Q6IBF1	Silent	SNP	NULL	p.P15	ENST00000257013.7	37	c.45	CCDS43997.1	X																																																																																			FAM127A	-	NULL		0.647	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	HGNC	protein_coding	OTTHUMT00000058391.2	G	NM_001078171		134166458	1	no_errors	ENST00000257013	ensembl	human	novel	70_37	silent	SNP	0.002	A	A	134166458	G	A	134166458	2	1	76	1	0	0	0	0	0	0	0	1	5446	1045	37	1		1	FAM127A	23	134166458	Silent	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	3948619	134166458	21104102	70	12009										
HCFC1	3054	genome.wustl.edu	37	chrX	153227013	153227014	+	In_Frame_Ins	INS	-	-	TGT													0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	caggttgagacaagccagcgINStgttggtacacttccactcc							TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:153227013_153227014insTGT	ENST00000310441.7	-	6	1849_1850	c.883_884insACA	c.(883-885)acg>aACAcg	p.294_295insN	HCFC1_ENST00000354233.3_In_Frame_Ins_p.294_295insN|HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000369984.4_In_Frame_Ins_p.294_295insN	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	294					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGCCAGCGTGTTGGTACAC	0.599																																																	0																																										SO:0001652	inframe_insertion	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.881_883dupACA	X.37:g.153227014_153227016dupTGT	ENSP00000309555:p.Asn294_Asn294dup		Q6P4G5	In_Frame_Ins	INS	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.295in_frame_insN	ENST00000310441.7	37	c.884_883	CCDS44020.1	X																																																																																			HCFC1	-	pfam_Kelch_1		0.599	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	NM_005334		153227014	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	in_frame_ins	INS	0.997:1.000	TGT	TGT	153227014	-	TGT	153227013	7	5	76	1	0	1	1	0	0	0	0	0	7011	1145	40	0	5307	0	HCFC1	23	153227013	In_Frame_Ins	INS	-	TCGA-EA-A3QE-01A-21D-A21Q-09	19060555	153227013	2043547	71	12010										
FLNA	2316	genome.wustl.edu	37	chrX	153585975	153585975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.23943661971831	17	0.000348002178337236	2.5874213836478	6.45333333333333	2.18472222222222	0.0108722086529406	0.044876776141925	10	cttggatgtgtgtcttcttcGgcttgccttcgggatcctgt	12	10	2	0	rs372729831		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:153585975G>A	ENST00000369850.3	-	29	5008	c.4772C>T	c.(4771-4773)cCg>cTg	p.P1591L	FLNA_ENST00000360319.4_Missense_Mutation_p.P1591L|FLNA_ENST00000422373.1_Missense_Mutation_p.P1591L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.P1591L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1591	Interaction with furin. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCTTCTTCGGCTTGCCTTC	0.622																																																	0								G	LEU/PRO,LEU/PRO	1,3767		0,1,1598,570	131	129	130		4772,4772	5.2	1	X		130	0,6650		0,0,2407,1836	no	missense,missense	FLNA	NM_001110556.1,NM_001456.3	98,98	0,1,4005,2406	AA,AG,GG,G		0.0,0.0265,0.0096	probably-damaging,probably-damaging	1591/2648,1591/2640	153585975	1,10417	2169	4243	6412	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4772C>T	X.37:g.153585975G>A	ENSP00000358866:p.Pro1591Leu		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P1591L	ENST00000369850.3	37	c.4772	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710006	0.68730	2.65E-4	0.0	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.22	5.22	0.72569	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066716	0.64402	D	0.000013	D	0.91727	0.7384	M	0.67625	2.065	0.80722	D	1	P;D	0.89917	0.742;1.0	B;D	0.87578	0.262;0.998	D	0.92520	0.6024	10	0.72032	D	0.01	.	18.1785	0.89769	0.0:0.0:1.0:0.0	.	1591;1591	P21333-2;P21333	.;FLNA_HUMAN	L	1591;1564;1591;1591;1591	ENSP00000353467:P1591L;ENSP00000416926:P1591L;ENSP00000358866:P1591L;ENSP00000358863:P1591L	ENSP00000358863:P1591L	P	-	2	0	FLNA	153239169	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	9.779000	0.99018	2.317000	0.78254	0.529000	0.55759	CCG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153585975	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153585975	G	A	153585975	3	1	76	1	0	0	0	0	1	0	0	0	5951	1116	39	2	3251	2	FLNA	23	153585975	Missense_Mutation	SNP	G	TCGA-EA-A3QE-01A-21D-A21Q-09	358962	153585975	1684585	72	12011										
GNB1	2782	genome.wustl.edu	37	chr1	1736005	1736005	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	catgacccaggaggagcgcaGagggatggcgtggacctaat	16	9	0	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:1736005G>C	ENST00000378609.4	-	7	614	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	95					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GAGGAGCGCAGAGGGATGGCG	0.468																																																	0													63	55	58					1																	1736005		2203	4300	6503	SO:0001583	missense	2782			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.283C>G	1.37:g.1736005G>C	ENSP00000367872:p.Leu95Val		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L95V	ENST00000378609.4	37	c.283	CCDS34.1	1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.083323	0.36758	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.01323	5.01;5.01;5.01;5.01	5.5	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.148730	0.46442	D	0.000298	T	0.04907	0.0132	M	0.84948	2.725	0.80722	D	1	P	0.38800	0.648	P	0.44561	0.453	T	0.23511	-1.0186	10	0.39692	T	0.17	0.0171	13.1456	0.59459	0.0764:0.0:0.9236:0.0	.	95	P62873	GBB1_HUMAN	V	95;95;95;82;95	ENSP00000367872:L95V;ENSP00000392765:L95V;ENSP00000399741:L82V;ENSP00000416651:L95V	ENSP00000367869:L95V	L	-	1	2	GNB1	1725865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.877000	0.56123	1.331000	0.45412	0.645000	0.84053	CTG	GNB1	-	pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,pfscan_WD40_repeat_dom		0.468	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	HGNC	protein_coding	OTTHUMT00000002762.3	G	NM_002074		1736005	-1	no_errors	ENST00000378606	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1736005	G	C	1736005	3	2	77	1	0	0	0	0	1	0	0	0	6534	933	33	1	759	1	GNB1	1	1736005	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		1736005	247514616	1	12012										
CSMD2	114784	genome.wustl.edu	37	chr1	34102038	34102038	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gctcagggtcgaggtgccctCaacttcgtagcccccgtggc	13	15	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:34102038C>G	ENST00000373380.1	-	9	1730	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1631Q			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1591	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTGCCCTCAACTTCGTAG	0.622																																																	0													61	53	55					1																	34102038		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1510G>C	1.37:g.34102038C>G	ENSP00000362478:p.Glu504Gln		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E1631Q	ENST00000373380.1	37	c.4891		1	.	.	.	.	.	.	.	.	.	.	C	7.123	0.578334	0.13686	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.63255	-0.03;-0.03	5.68	3.77	0.43336	Complement control module (2);Sushi/SCR/CCP (3);	0.057741	0.64402	N	0.000002	T	0.39572	0.1083	N	0.04746	-0.17	0.80722	D	1	B;B;B	0.15141	0.002;0.012;0.012	B;B;B	0.19666	0.026;0.014;0.014	T	0.13899	-1.0492	10	0.10902	T	0.67	.	15.1268	0.72489	0.0:0.5942:0.4058:0.0	.	504;1591;1631	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1631;504	ENSP00000362479:E1631Q;ENSP00000362478:E504Q	ENSP00000241312:E1591Q	E	-	1	0	CSMD2	33874625	0.994000	0.37717	0.645000	0.29479	0.423000	0.31445	3.145000	0.50623	0.729000	0.32403	0.313000	0.20887	GAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.622	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34102038	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	0.926	G	G	34102038	C	G	34102038	3	3	77	1	0	0	0	0	1	0	0	0	3950	835	29	1	5852	1	CSMD2	1	34102038	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	32366033	34102038	215148583	2	12013										
GJB5	2709	genome.wustl.edu	37	chr1	35223480	35223480	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atctccaagccctcagagaaGaacattttcaccctcttcat	4	14	5	2	rs544692090		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:35223480G>C	ENST00000338513.1	+	2	722	c.549G>C	c.(547-549)aaG>aaC	p.K183N	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	183					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCAGAGAAGAACATTTTCA	0.522																																																	0													105	95	98					1																	35223480		2203	4300	6503	SO:0001583	missense	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.549G>C	1.37:g.35223480G>C	ENSP00000340811:p.Lys183Asn		Q9UPA3	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311	p.K183N	ENST00000338513.1	37	c.549	CCDS382.1	1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869521	0.51588	.	.	ENSG00000189280	ENST00000338513	D	0.99121	-5.45	5.9	0.817	0.18773	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.96015	3.755	0.45161	D	0.998175	D	0.89917	1.0	D	0.97110	1.0	D	0.99793	1.1032	10	0.87932	D	0	.	10.7481	0.46191	0.4407:0.0:0.5593:0.0	.	183	O95377	CXB5_HUMAN	N	183	ENSP00000340811:K183N	ENSP00000340811:K183N	K	+	3	2	GJB5	34996067	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	0.932000	0.28884	-0.083000	0.12618	0.563000	0.77884	AAG	GJB5	-	pfam_Connexin_CCC,prints_Connexin		0.522	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB5	HGNC	protein_coding	OTTHUMT00000011561.1	G	NM_005268		35223480	1	no_errors	ENST00000338513	ensembl	human	known	70_37	missense	SNP	0.999	C	C	35223480	G	C	35223480	3	2	77	1	0	0	0	0	1	0	0	0	6430	933	33	1	551	1	GJB5	1	35223480	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	1121442	35223480	214027141	3	12014										
ZNF684	127396	genome.wustl.edu	37	chr1	41012986	41012986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agaaaccttacagttgtattGaatgtggcaaagccttcatc	8	8	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:41012986G>C	ENST00000372699.3	+	5	1242	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CAGTTGTATTGAATGTGGCAA	0.423																																																	0													99	104	102					1																	41012986		2203	4300	6503	SO:0001583	missense	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.991G>C	1.37:g.41012986G>C	ENSP00000361784:p.Glu331Gln		Q2NKY4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E331Q	ENST00000372699.3	37	c.991	CCDS454.1	1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707905	0.30322	.	.	ENSG00000117010	ENST00000372699	T	0.07444	3.19	4.38	0.0482	0.14284	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.447307	0.16590	N	0.207785	T	0.04998	0.0134	L	0.33339	1.005	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.38045	-0.9679	10	0.25751	T	0.34	.	2.6108	0.04890	0.1814:0.146:0.5234:0.1492	.	331	Q5T5D7	ZN684_HUMAN	Q	331	ENSP00000361784:E331Q	ENSP00000361784:E331Q	E	+	1	0	ZNF684	40785573	0.000000	0.05858	0.981000	0.43875	0.955000	0.61496	0.187000	0.16998	0.216000	0.20781	-0.176000	0.13171	GAA	ZNF684	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	G	NM_152373		41012986	1	no_errors	ENST00000372699	ensembl	human	known	70_37	missense	SNP	0.049	C	C	41012986	G	C	41012986	3	2	77	1	0	0	0	0	1	0	0	0	18121	1291	45	1	1005	1	ZNF684	1	41012986	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	5789506	41012986	208237635	4	12015										
C1orf210	149466	genome.wustl.edu	37	chr1	43748630	43748630	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctggcatggtatcggcggcaGaggtggcatttggcagcaag	17	8	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:43748630G>C	ENST00000523677.1	-	3	401	c.168C>G	c.(166-168)ctC>ctG	p.L56L	C1orf210_ENST00000423420.1_Silent_p.L56L	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	56						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCGGCGGCAGAGGTGGCATT	0.632																																																	0													52	51	51					1																	43748630		2203	4300	6503	SO:0001819	synonymous_variant	149466			BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.168C>G	1.37:g.43748630G>C			D3DPX2	Silent	SNP	NULL	p.L56	ENST00000523677.1	37	c.168	CCDS481.1	1																																																																																			C1orf210	-	NULL		0.632	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf210	HGNC	protein_coding	OTTHUMT00000019035.2	G	NM_182517		43748630	-1	no_errors	ENST00000423420	ensembl	human	known	70_37	silent	SNP	1.000	C	C	43748630	G	C	43748630	2	2	77	1	0	0	0	0	0	0	0	1	2034	929	33	1		1	C1orf210	1	43748630	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	2735644	43748630	205501991	5	12016										
MPL	4352	genome.wustl.edu	37	chr1	43814553	43814553	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gggcccgaggagggaccctgGagctgcgcccgcgatctcgc	17	15	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:43814553G>C	ENST00000372470.3	+	9	1390	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	MPL_ENST00000413998.2_Missense_Mutation_p.E450Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	450	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	AGGGACCCTGGAGCTGCGCCC	0.677			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)		yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	L	0													8	12	11					1																	43814553		2119	4150	6269	SO:0001583	missense	4352			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1348G>C	1.37:g.43814553G>C	ENSP00000361548:p.Glu450Gln		Q5JUZ0	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E450Q	ENST00000372470.3	37	c.1348	CCDS483.1	1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.563519	0.86335	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.57436	0.4;0.4	4.59	4.59	0.56863	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	1.926800	0.01998	N	0.046072	T	0.67258	0.2874	L	0.47716	1.5	0.28305	N	0.922954	P;B;D	0.69078	0.84;0.255;0.997	P;B;P	0.62089	0.459;0.164;0.898	T	0.57087	-0.7871	10	0.18276	T	0.48	-6.2149	14.6326	0.68666	0.0:0.0:1.0:0.0	.	443;450;450	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	Q	450	ENSP00000361548:E450Q;ENSP00000414004:E450Q	ENSP00000361546:E450Q	E	+	1	0	MPL	43587140	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.029000	0.64121	2.093000	0.63338	0.444000	0.29173	GAG	MPL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.677	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	HGNC	protein_coding	OTTHUMT00000019522.1	G	NM_005373		43814553	1	no_errors	ENST00000372470	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43814553	G	C	43814553	3	2	77	1	0	0	0	0	1	0	0	0	9753	1175	41	1	1382	1	MPL	1	43814553	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	65923	43814553	205436068	6	12017										
TTC39A	22996	genome.wustl.edu	37	chr1	51767348	51767348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cagctcccagtagcacatgtGgtggaactgcttccagtgct	11	12	0	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:51767348G>T	ENST00000447632.2	-	12	1105	c.1057C>A	c.(1057-1059)Cac>Aac	p.H353N	TTC39A_ENST00000451380.1_Missense_Mutation_p.H317N|TTC39A_ENST00000262675.7_Missense_Mutation_p.H290N|TTC39A_ENST00000371747.3_Missense_Mutation_p.H352N|TTC39A_ENST00000262676.5_3'UTR|TTC39A_ENST00000371750.5_Missense_Mutation_p.H318N|TTC39A_ENST00000413473.2_Missense_Mutation_p.H321N			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	353								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TAGCACATGTGGTGGAACTGC	0.607																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											67	69	68					1																	51767348		2121	4221	6342	SO:0001583	missense	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1057C>A	1.37:g.51767348G>T	ENSP00000393952:p.His353Asn		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.H353N	ENST00000447632.2	37	c.1057		1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909372	0.92107	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.86	4.8	4.8	0.61643	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.81914	0.992;0.995;0.988;0.988;0.995;0.979	T	0.75161	-0.3415	10	0.28530	T	0.3	-15.6674	17.1965	0.86894	0.0:0.0:1.0:0.0	.	321;317;290;317;353;318	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	N	353;321;290;317;318;352	ENSP00000393952:H353N;ENSP00000406144:H321N;ENSP00000262675:H290N;ENSP00000397207:H317N;ENSP00000360815:H318N;ENSP00000360812:H352N	ENSP00000262675:H290N	H	-	1	0	TTC39A	51539936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.635000	0.98437	2.377000	0.81083	0.462000	0.41574	CAC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39		0.607	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	G			51767348	-1	no_errors	ENST00000447632	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51767348	G	T	51767348	3	4	77	1	0	0	0	0	1	0	0	0	16738	1348	47	4	812	4	TTC39A	1	51767348	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	7952795	51767348	197483273	7	12018										
SERBP1	26135	genome.wustl.edu	37	chr1	67890585	67890585	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	accaacgttaattcgtctttGacagttccccagttgtgaga	8	10	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:67890585G>C	ENST00000370995.2	-	4	766	c.681C>G	c.(679-681)gtC>gtG	p.V227V	SERBP1_ENST00000370994.4_Silent_p.V221V|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370990.5_Silent_p.V221V|SERBP1_ENST00000361219.6_Silent_p.V227V			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	227					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATTCGTCTTTGACAGTTCCCC	0.368																																																	0													81	78	79					1																	67890585		2203	4300	6503	SO:0001819	synonymous_variant	26135			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.681C>G	1.37:g.67890585G>C			Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	pfam_HABP4_PAIRBP1-bd	p.V227	ENST00000370995.2	37	c.681	CCDS30746.1	1																																																																																			SERBP1	-	pfam_HABP4_PAIRBP1-bd		0.368	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERBP1	HGNC	protein_coding	OTTHUMT00000025984.2	G	NM_001018067		67890585	-1	no_errors	ENST00000370995	ensembl	human	known	70_37	silent	SNP	1.000	C	C	67890585	G	C	67890585	2	2	77	1	0	0	0	0	0	0	0	1	14105	1277	45	1		1	SERBP1	1	67890585	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	16123237	67890585	181360036	8	12019										
CLCA2	9635	genome.wustl.edu	37	chr1	86904663	86904663	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agtttcgacagcaaaggagaGatcagagcccagctacacca	10	11	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:86904663G>A	ENST00000370565.4	+	7	1239	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	359	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCAAAGGAGAGATCAGAGCCC	0.423																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													138	120	126					1																	86904663		2203	4300	6503	SO:0001819	synonymous_variant	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1077G>A	1.37:g.86904663G>A			A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.E359	ENST00000370565.4	37	c.1077	CCDS708.1	1																																																																																			CLCA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.423	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	G	NM_006536		86904663	1	no_errors	ENST00000370565	ensembl	human	known	70_37	silent	SNP	0.001	A	A	86904663	G	A	86904663	2	1	77	1	0	0	0	0	0	0	0	1	3463	933	33	1		1	CLCA2	1	86904663	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	19014078	86904663	162345958	9	12020										
RBM15	64783	genome.wustl.edu	37	chr1	110882124	110882124	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcgcggggcggcgggttactCagctccgcggagacgacctc	17	14	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:110882124C>T	ENST00000369784.3	+	1	997	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.Q33*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.Q33*|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	33					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGGGTTACTCAGCTCCGCGG	0.667			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													18	22	20					1																	110882124		2203	4298	6501	SO:0001587	stop_gained	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.97C>T	1.37:g.110882124C>T	ENSP00000358799:p.Gln33*		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Q33*	ENST00000369784.3	37	c.97	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	C	44	11.233463	0.99534	.	.	ENSG00000162775	ENST00000369784	.	.	.	5.31	4.38	0.52667	.	0.527164	0.15915	N	0.238407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.4369	6.4889	0.22105	0.1817:0.7291:0.0:0.0893	.	.	.	.	X	33	.	ENSP00000358799:Q33X	Q	+	1	0	RBM15	110683647	0.982000	0.34865	0.887000	0.34795	0.920000	0.55202	1.996000	0.40776	1.429000	0.47314	0.655000	0.94253	CAG	RBM15	-	NULL		0.667	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	C	NM_022768		110882124	1	no_errors	ENST00000369784	ensembl	human	known	70_37	nonsense	SNP	0.772	T	T	110882124	C	T	110882124	4	4	77	1	0	0	0	0	0	1	0	0	13146	827	29	1	99	1	RBM15	1	110882124	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	23977461	110882124	138368497	10	12021										
CELF3	11189	genome.wustl.edu	37	chr1	151681738	151681738	+	Missense_Mutation	SNP	C	C	T													0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ccggagcacagtgcactcgtCgatggtcccgaagggctcaa							TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:151681738C>T	ENST00000290583.4	-	4	1157	c.364G>A	c.(364-366)Gac>Aac	p.D122N	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000290585.4_Missense_Mutation_p.D122N|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	122	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGCACTCGTCGATGGTCCCG	0.622																																																	0													193	183	187					1																	151681738		2203	4300	6503	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.364G>A	1.37:g.151681738C>T	ENSP00000290583:p.Asp122Asn		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D122N	ENST00000290583.4	37	c.364	CCDS1002.1	1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041095	0.75732	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833	D;D	0.85484	-1.99;-1.99	4.39	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111737	0.64402	D	0.000018	T	0.80639	0.4661	N	0.16708	0.43	0.80722	D	1	D;P;D;D;D	0.62365	0.959;0.939;0.991;0.971;0.964	P;P;P;P;B	0.60236	0.787;0.564;0.871;0.548;0.412	D	0.85196	0.1012	10	0.87932	D	0	-10.8007	14.4846	0.67609	0.0:1.0:0.0:0.0	.	122;122;121;122;121	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	N	122;122;121	ENSP00000290585:D122N;ENSP00000290583:D122N	ENSP00000290583:D122N	D	-	1	0	CELF3	149948362	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.272000	0.78516	2.265000	0.75225	0.462000	0.41574	GAC	CELF3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.622	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	C	NM_007185		151681738	-1	no_errors	ENST00000290583	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151681738	C	T	151681738	3	4	77	1	0	0	0	0	1	0	0	0	3222	884	31	1	1069	1	CELF3	1	151681738	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	40799614	151681738	97568883	11	12022	66	2								
CELF3	11189	genome.wustl.edu	37	chr1	151681743	151681743	+	Missense_Mutation	SNP	G	G	T													0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcacagtgcactcgtcgatgGtcccgaagggctcaaacatc							TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:151681743G>T	ENST00000290583.4	-	4	1152	c.359C>A	c.(358-360)aCc>aAc	p.T120N	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000290585.4_Missense_Mutation_p.T120N|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	120	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTCGTCGATGGTCCCGAAGGG	0.617																																																	0													204	193	197					1																	151681743		2203	4300	6503	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.359C>A	1.37:g.151681743G>T	ENSP00000290583:p.Thr120Asn		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T120N	ENST00000290583.4	37	c.359	CCDS1002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.844|5.844	0.339856|0.339856	0.11069|0.11069	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|D;D	.|0.87256	.|-2.23;-2.23	4.39|4.39	4.39|4.39	0.52855|0.52855	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.164157	.|0.52532	.|D	.|0.000070	T|T	0.64735|0.64735	0.2625|0.2625	N|N	0.26092|0.26092	0.79|0.79	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.09022	.|0.001;0.001;0.002;0.002;0.002	.|B;B;B;B;B	.|0.15052	.|0.012;0.001;0.002;0.002;0.004	T|T	0.61128|0.61128	-0.7125|-0.7125	5|10	.|0.15066	.|T	.|0.55	-29.6454|-29.6454	9.6726|9.6726	0.40021|0.40021	0.0:0.0:0.7926:0.2074|0.0:0.0:0.7926:0.2074	.|.	.|120;120;119;120;119	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	T|N	121|120;120;119	.|ENSP00000290585:T120N;ENSP00000290583:T120N	.|ENSP00000290583:T120N	P|T	-|-	1|2	0|0	CELF3|CELF3	149948367|149948367	0.646000|0.646000	0.27295|0.27295	1.000000|1.000000	0.80357|0.80357	0.646000|0.646000	0.38490|0.38490	0.260000|0.260000	0.18424|0.18424	2.265000|2.265000	0.75225|0.75225	0.462000|0.462000	0.41574|0.41574	CCA|ACC	CELF3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.617	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	G	NM_007185		151681743	-1	no_errors	ENST00000290583	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151681743	G	T	151681743	3	4	77	1	0	0	0	0	1	0	0	0	3222	1261	44	4	1074	4	CELF3	1	151681743	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	5	151681743	97568878	12	12023	66	2								
UHMK1	127933	genome.wustl.edu	37	chr1	162469921	162469921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ttttggaggcccttgcttttCttcatcatgagggctatgtc	10	9	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:162469921C>T	ENST00000489294.1	+	2	603	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.L149F|UHMK1_ENST00000545294.1_Missense_Mutation_p.L75F	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CCTTGCTTTTCTTCATCATGA	0.438																																																	0													164	142	150					1																	162469921		2203	4300	6503	SO:0001583	missense	127933			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.445C>T	1.37:g.162469921C>T	ENSP00000420270:p.Leu149Phe		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom	p.L149F	ENST00000489294.1	37	c.445	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654483	0.88056	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.39787	1.06;1.06;1.06	5.73	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067254	0.64402	D	0.000008	T	0.56396	0.1982	M	0.78344	2.41	.	.	.	D;D;P	0.76494	0.999;0.999;0.846	D;D;P	0.83275	0.994;0.996;0.461	T	0.66484	-0.5912	9	0.87932	D	0	1.6638	13.6113	0.62080	0.1552:0.8448:0.0:0.0	.	149;149;75	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	F	75;149;149	ENSP00000441226:L75F;ENSP00000446416:L149F;ENSP00000420270:L149F	ENSP00000420270:L149F	L	+	1	0	UHMK1	160736545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.146000	0.58072	1.540000	0.49301	0.655000	0.94253	CTT	UHMK1	-	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		0.438	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	C	NM_175866		162469921	1	no_errors	ENST00000489294	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162469921	C	T	162469921	3	4	77	1	0	0	0	0	1	0	0	0	16997	913	32	1	501	1	UHMK1	1	162469921	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	10788178	162469921	86780700	13	12024										
RGS8	85397	genome.wustl.edu	37	chr1	182616020	182616020	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggctcctgcaggttcttcctCgtggcttctcgggtctggaa	13	12	3	0	rs147293552		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:182616020C>T	ENST00000483095.2	-	7	650	c.393G>A	c.(391-393)acG>acA	p.T131T	RGS8_ENST00000367556.1_Silent_p.T131T|RGS8_ENST00000258302.4_Silent_p.T149T|RGS8_ENST00000367557.4_Silent_p.T131T			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	131	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T149T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTTCTTCCTCGTGGCTTCTC	0.527													C|||	1	0.000199681	0	0	5008	,	,		17602	0.001		0	False		,,,				2504	0				Ovarian(189;1262 3804 41973)												1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	159	155	156		393,447	-1.6	1	1	dbSNP_134	156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RGS8	NM_001102450.1,NM_033345.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	131/181,149/199	182616020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85397			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.393G>A	1.37:g.182616020C>T			B4DGL9|Q3SYD2	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.T149	ENST00000483095.2	37	c.447	CCDS41443.1	1																																																																																			RGS8	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.527	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	HGNC	protein_coding	OTTHUMT00000358979.1	C	NM_033345		182616020	-1	no_errors	ENST00000258302	ensembl	human	known	70_37	silent	SNP	0.946	T	T	182616020	C	T	182616020	2	4	77	1	0	0	0	0	0	0	0	1	13342	871	31	1		1	RGS8	1	182616020	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	20146099	182616020	66634601	14	12025										
EDEM3	80267	genome.wustl.edu	37	chr1	184671965	184671965	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctcgatcttttgctttatcaGagaggagcacttctacctcc	7	12	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:184671965G>C	ENST00000318130.8	-	19	2635	c.2369C>G	c.(2368-2370)tCt>tGt	p.S790C	EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.S747C	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	790					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTTTATCAGAGAGGAGCAC	0.368																																																	0													113	101	105					1																	184671965		2203	4300	6503	SO:0001583	missense	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2369C>G	1.37:g.184671965G>C	ENSP00000318147:p.Ser790Cys		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.S790C	ENST00000318130.8	37	c.2369	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840864	0.71488	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73897	-0.79;-0.78	4.89	4.89	0.63831	.	0.170734	0.53938	D	0.000051	T	0.77110	0.4082	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.55999	0.789	T	0.79715	-0.1687	10	0.59425	D	0.04	.	18.4468	0.90686	0.0:0.0:1.0:0.0	.	790	Q9BZQ6	EDEM3_HUMAN	C	790;747	ENSP00000318147:S790C;ENSP00000356482:S747C	ENSP00000318147:S790C	S	-	2	0	EDEM3	182938588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.351000	0.66022	2.430000	0.82344	0.655000	0.94253	TCT	EDEM3	-	NULL		0.368	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	G	NM_025191		184671965	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184671965	G	C	184671965	3	2	77	1	0	0	0	0	1	0	0	0	4923	942	33	1	437	1	EDEM3	1	184671965	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	2055945	184671965	64578656	15	12026										
C1orf116	79098	genome.wustl.edu	37	chr1	207196584	207196584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcctgcctgggttggctgctCtggctgacctgttctttctc	12	13	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:207196584C>G	ENST00000359470.5	-	4	774	c.525G>C	c.(523-525)caG>caC	p.Q175H	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	175						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GTTGGCTGCTCTGGCTGACCT	0.627																																																	0													62	67	65					1																	207196584		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.525G>C	1.37:g.207196584C>G	ENSP00000352447:p.Gln175His		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.Q175H	ENST00000359470.5	37	c.525	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502177	0.44455	.	.	ENSG00000182795	ENST00000359470	T	0.09255	3.0	4.95	1.4	0.22301	.	1.111270	0.06911	N	0.807716	T	0.21227	0.0511	L	0.54323	1.7	0.09310	N	0.999991	D	0.63046	0.992	P	0.57720	0.826	T	0.17715	-1.0360	10	0.48119	T	0.1	-2.7775	6.4221	0.21750	0.0:0.6253:0.0:0.3747	.	175	Q9BW04	SARG_HUMAN	H	175	ENSP00000352447:Q175H	ENSP00000352447:Q175H	Q	-	3	2	C1orf116	205263207	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.251000	0.18257	0.344000	0.23847	0.655000	0.94253	CAG	C1orf116	-	NULL		0.627	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207196584	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.001	G	G	207196584	C	G	207196584	3	3	77	1	0	0	0	0	1	0	0	0	1994	912	32	1	1284	1	C1orf116	1	207196584	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	22524619	207196584	42054037	16	12027										
OBSCN	84033	genome.wustl.edu	37	chr1	228511046	228511046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cagccccagtgttcctgactGagttgcagaaccaagaagtg	11	11	0	4			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:228511046G>A	ENST00000422127.1	+	56	15435	c.15391G>A	c.(15391-15393)Gag>Aag	p.E5131K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E5131K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2250K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2765K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E6088K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5131	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTCCTGACTGAGTTGCAGAA	0.547																																																	0													45	48	47					1																	228511046		2096	4210	6306	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15391G>A	1.37:g.228511046G>A	ENSP00000409493:p.Glu5131Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E5131K	ENST00000422127.1	37	c.15391	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941914	0.73557	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.07	4.14	0.48551	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.33293	1	0.44316	D	0.997196	D;D	0.58970	0.984;0.98	P;P	0.61201	0.885;0.817	T	0.67440	-0.5670	10	0.40728	T	0.16	.	15.4962	0.75653	0.0:0.1389:0.8611:0.0	.	5131;5131	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	5131;5131;2765;2250	ENSP00000284548:E5131K;ENSP00000409493:E5131K;ENSP00000355668:E2765K;ENSP00000355670:E2250K	ENSP00000284548:E5131K	E	+	1	0	OBSCN	226577669	1.000000	0.71417	0.908000	0.35775	0.259000	0.26198	4.448000	0.60027	1.320000	0.45209	0.655000	0.94253	GAG	OBSCN	-	pfam_Ig_I-set,pfscan_Ig-like		0.547	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228511046	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.996	A	A	228511046	G	A	228511046	3	1	77	1	0	0	0	0	1	0	0	0	10836	1291	45	1	15609	1	OBSCN	1	228511046	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	21314462	228511046	20739575	17	12028										
OBSCN	84033	genome.wustl.edu	37	chr1	228560176	228560176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	aggaggccagggctgagtccCagtcggaggagcagcaggag	19	9	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:228560176C>T	ENST00000422127.1	+	94	21741	c.21697C>T	c.(21697-21699)Cag>Tag	p.Q7233*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q4867*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q8190*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7233					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGTCCCAGTCGGAGGA	0.692																																																	0													13	17	16					1																	228560176		2078	4202	6280	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21697C>T	1.37:g.228560176C>T	ENSP00000409493:p.Gln7233*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q7233*	ENST00000422127.1	37	c.21697	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.416526|83.416526	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	1.05|1.05	1.05|1.05	0.20165|0.20165	.|.	.|0.325854	.|0.26820	.|N	.|0.022332	T|.	0.11836|.	0.0288|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23797|.	-1.0178|.	4|.	.|0.07325	.|T	.|0.83	.|.	3.3597|3.3597	0.07182|0.07182	0.0:0.6821:0.0:0.3179|0.0:0.6821:0.0:0.3179	.|.	.|.	.|.	.|.	L|X	1849|7233;4867	.|.	.|ENSP00000355668:Q4867X	P|Q	+|+	2|1	0|0	OBSCN|OBSCN	226626799|226626799	0.000000|0.000000	0.05858|0.05858	0.697000|0.697000	0.30258|0.30258	0.377000|0.377000	0.30045|0.30045	0.125000|0.125000	0.15749|0.15749	0.119000|0.119000	0.18210|0.18210	0.121000|0.121000	0.15741|0.15741	CCA|CAG	OBSCN	-	NULL		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228560176	1	no_errors	ENST00000422127	ensembl	human	known	70_37	nonsense	SNP	0.007	T	T	228560176	C	T	228560176	4	4	77	1	0	0	0	0	0	1	0	0	10836	595	21	4	23277	4	OBSCN	1	228560176	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	49130	228560176	20690445	18	12029										
RYR2	6262	genome.wustl.edu	37	chr1	237777443	237777443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgctcttgggaaccaccgggTggcccatgccctgtgcagcc	13	15	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:237777443T>A	ENST00000366574.2	+	37	5332	c.5015T>A	c.(5014-5016)gTg>gAg	p.V1672E	RYR2_ENST00000542537.1_Missense_Mutation_p.V1656E|RYR2_ENST00000360064.6_Missense_Mutation_p.V1670E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1672	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCACCGGGTGGCCCATGCC	0.527																																																	0													65	67	66					1																	237777443		2096	4219	6315	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5015T>A	1.37:g.237777443T>A	ENSP00000355533:p.Val1672Glu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1670E	ENST00000366574.2	37	c.5009	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663031	0.88251	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98060	-4.69;-4.67;-4.68	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000029	D	0.98717	0.9569	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99833	1.1055	10	0.87932	D	0	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	1672	Q92736	RYR2_HUMAN	E	1672;1670;1656	ENSP00000355533:V1672E;ENSP00000353174:V1670E;ENSP00000443798:V1656E	ENSP00000353174:V1670E	V	+	2	0	RYR2	235844066	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.260000	0.72502	2.205000	0.71048	0.533000	0.62120	GTG	RYR2	-	NULL		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	T	NM_001035		237777443	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237777443	T	A	237777443	3	1	77	1	0	0	0	0	1	0	0	0	13799	1696	59	5	5161	5	RYR2	1	237777443	Missense_Mutation	SNP	T	TCGA-EA-A3Y4-01A-51D-A243-09	9217267	237777443	11473178	19	12030										
OR2L3	391192	genome.wustl.edu	37	chr1	248224230	248224230	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ttgttcctaagatggcatctGattttctgtctggtaacaag	9	7	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr1:248224230G>C	ENST00000359959.3	+	1	247	c.247G>C	c.(247-249)Gat>Cat	p.D83H	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D83N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GATGGCATCTGATTTTCTGTC	0.453																																																	1	Substitution - Missense(1)	skin(1)											292	268	276					1																	248224230		2203	4300	6503	SO:0001583	missense	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.247G>C	1.37:g.248224230G>C	ENSP00000353044:p.Asp83His		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D83H	ENST00000359959.3	37	c.247	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	.	6.733	0.503969	0.12822	.	.	ENSG00000198128	ENST00000359959	T	0.00419	7.48	2.05	-1.24	0.09435	GPCR, rhodopsin-like superfamily (1);	0.955940	0.08428	U	0.947360	T	0.00271	0.0008	L	0.28014	0.82	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.34079	-0.9843	10	0.72032	D	0.01	.	6.4919	0.22119	0.6472:0.0:0.3528:0.0	.	83	Q8NG85	OR2L3_HUMAN	H	83	ENSP00000353044:D83H	ENSP00000353044:D83H	D	+	1	0	OR2L3	246290853	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.733000	0.04898	-0.346000	0.08312	0.462000	0.41574	GAT	OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.453	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	G	NM_001004687		248224230	1	no_errors	ENST00000359959	ensembl	human	known	70_37	missense	SNP	0.000	C	C	248224230	G	C	248224230	3	2	77	1	0	0	0	0	1	0	0	0	11032	1290	45	1	249	1	OR2L3	1	248224230	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	10446787	248224230	1026391	20	12031										
FAM179A	165186	genome.wustl.edu	37	chr2	29247030	29247030	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	caacctgcggtccaaggtgtCtcacctggccatcagcacct	9	16	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr2:29247030C>T	ENST00000379558.4	+	13	1994	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F	FAM179A_ENST00000403861.2_Missense_Mutation_p.S493F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	548										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCAAGGTGTCTCACCTGGCC	0.607																																																	0													23	24	23					2																	29247030		1976	4148	6124	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1643C>T	2.37:g.29247030C>T	ENSP00000368876:p.Ser548Phe		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S548F	ENST00000379558.4	37	c.1643	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983207	0.74474	.	.	ENSG00000189350	ENST00000379558;ENST00000403861;ENST00000440012	T;T;T	0.68331	-0.32;-0.32;-0.19	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.64402	D	0.000010	T	0.82171	0.4979	M	0.78456	2.415	0.48830	D	0.999711	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	D	0.84239	0.0471	10	0.56958	D	0.05	.	17.7168	0.88340	0.0:1.0:0.0:0.0	.	493;548	F8W8E4;Q6ZUX3	.;F179A_HUMAN	F	548;493;43	ENSP00000368876:S548F;ENSP00000384699:S493F;ENSP00000396739:S43F	ENSP00000368876:S548F	S	+	2	0	FAM179A	29100534	0.972000	0.33761	0.999000	0.59377	0.762000	0.43233	2.330000	0.43885	2.262000	0.75019	0.462000	0.41574	TCT	FAM179A	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.607	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29247030	1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29247030	C	T	29247030	3	4	77	1	0	0	0	0	1	0	0	0	5520	913	32	1	1689	1	FAM179A	2	29247030	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		29247030	213952343	21	12032										
ADD2	119	genome.wustl.edu	37	chr2	70918050	70918050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	acaggcaggaggccccacttCatggccgacaccttagagag	12	13	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr2:70918050C>T	ENST00000264436.4	-	8	1161	c.717G>A	c.(715-717)atG>atA	p.M239I	ADD2_ENST00000407644.2_Missense_Mutation_p.M239I|ADD2_ENST00000355733.3_Missense_Mutation_p.M239I|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.M239I|ADD2_ENST00000430656.1_Missense_Mutation_p.M255I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	239					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGCCCCACTTCATGGCCGACA	0.582																																																	0													72	61	65					2																	70918050		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.717G>A	2.37:g.70918050C>T	ENSP00000264436:p.Met239Ile		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.M239I	ENST00000264436.4	37	c.717	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	30	5.051059	0.93740	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.13	5.13	0.70059	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	M	0.73598	2.24	0.58432	D	0.999999	P;P;P;D	0.55172	0.877;0.858;0.767;0.97	P;P;P;D	0.68943	0.53;0.535;0.667;0.961	T	0.43750	-0.9372	10	0.87932	D	0	-35.3661	16.4661	0.84079	0.0:1.0:0.0:0.0	.	255;239;239;239	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	I	239;239;239;239;239;239;255	ENSP00000264436:M239I;ENSP00000384677:M239I;ENSP00000347972:M239I;ENSP00000388072:M239I;ENSP00000398112:M255I	ENSP00000264436:M239I	M	-	3	0	ADD2	70771558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.517000	0.81783	2.823000	0.97156	0.650000	0.86243	ATG	ADD2	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.582	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	C	NM_001617		70918050	-1	no_errors	ENST00000264436	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70918050	C	T	70918050	3	4	77	1	0	0	0	0	1	0	0	0	305	826	29	1	1676	1	ADD2	2	70918050	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	41671020	70918050	172281323	22	12033										
COX5B	1329	genome.wustl.edu	37	chr2	98262630	98262630	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggccccagtggcgcggccgcGatgcgctccatggcatctgg	16	15	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr2:98262630G>C	ENST00000258424.2	+	1	128	c.81G>C	c.(79-81)gcG>gcC	p.A27A	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	27					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GCGCGGCCGCGATGCGCTCCA	0.706																																																	0													7	7	7					2																	98262630		2120	4134	6254	SO:0001819	synonymous_variant	1329			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.81G>C	2.37:g.98262630G>C			Q53YB7|Q96J18|Q99610	Silent	SNP	pfam_Cyt_c_oxidase_su5b	p.A27	ENST00000258424.2	37	c.81	CCDS2032.1	2																																																																																			COX5B	-	NULL		0.706	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	G	NM_001862		98262630	1	no_errors	ENST00000258424	ensembl	human	known	70_37	silent	SNP	0.001	C	C	98262630	G	C	98262630	2	2	77	1	0	0	0	0	0	0	0	1	3778	1045	37	1		1	COX5B	2	98262630	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	27344580	98262630	144936743	23	12034										
CIR1	9541	genome.wustl.edu	37	chr2	175213653	175213653	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cttcttagacttgtccttctCttcagaatcactgttgttat	5	10	4	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr2:175213653C>T	ENST00000342016.3	-	10	1017	c.925G>A	c.(925-927)Gag>Aag	p.E309K	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	309	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TTGTCCTTCTCTTCAGAATCA	0.373																																																	0													170	172	171					2																	175213653		2203	4300	6503	SO:0001583	missense	9541			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.925G>A	2.37:g.175213653C>T	ENSP00000339723:p.Glu309Lys		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	pfam_CIR_N_dom,superfamily_Znf_CCHC	p.E309K	ENST00000342016.3	37	c.925	CCDS2256.1	2	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859078	0.71834	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	6.16	0.99307	.	0.598976	0.16949	N	0.192986	T	0.45074	0.1324	L	0.47716	1.5	0.32176	N	0.580978	P;P	0.47106	0.89;0.651	B;B	0.43413	0.419;0.154	T	0.46442	-0.9191	9	0.07813	T	0.8	.	18.648	0.91418	0.0:1.0:0.0:0.0	.	309;309	A0PJI7;Q86X95	.;CIR1_HUMAN	K	309	.	ENSP00000339723:E309K	E	-	1	0	CIR1	174921899	1.000000	0.71417	0.795000	0.32087	0.765000	0.43378	3.985000	0.56930	2.937000	0.99478	0.650000	0.86243	GAG	CIR1	-	NULL		0.373	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	HGNC	protein_coding	OTTHUMT00000255460.1	C	NM_004882		175213653	-1	no_errors	ENST00000342016	ensembl	human	known	70_37	missense	SNP	0.997	T	T	175213653	C	T	175213653	3	4	77	1	0	0	0	0	1	0	0	0	3437	922	32	1	431	1	CIR1	2	175213653	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	76951023	175213653	67985720	24	12035										
NFE2L2	4780	genome.wustl.edu	37	chr2	178095888	178095888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tctttggacatcatttcgttGaagtcaacaacagggaggtt	10	7	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr2:178095888G>A	ENST00000397062.3	-	5	1997	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	NFE2L2_ENST00000446151.2_Silent_p.F458F|NFE2L2_ENST00000464747.1_Silent_p.F465F|NFE2L2_ENST00000397063.4_Silent_p.F465F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	481					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCATTTCGTTGAAGTCAACAA	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													175	155	161					2																	178095888		1851	4093	5944	SO:0001819	synonymous_variant	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1443C>T	2.37:g.178095888G>A			B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.F481	ENST00000397062.3	37	c.1443	CCDS42782.1	2																																																																																			NFE2L2	-	superfamily_Euk_TF_DNA-bd		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	G	NM_006164		178095888	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	silent	SNP	1.000	A	A	178095888	G	A	178095888	2	1	77	1	0	0	0	0	0	0	0	1	10392	1281	45	1		1	NFE2L2	2	178095888	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	2882235	178095888	65103485	25	12036										
NGEF	25791	genome.wustl.edu	37	chr2	233744295	233744295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cggaaacattccttgaggttCtgggaccggatcttgggatt	13	8	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr2:233744295C>G	ENST00000264051.3	-	15	2315	c.2037G>C	c.(2035-2037)caG>caC	p.Q679H	NGEF_ENST00000539537.1_Missense_Mutation_p.Q402H|NGEF_ENST00000373552.4_Missense_Mutation_p.Q587H	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	679					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CCTTGAGGTTCTGGGACCGGA	0.587																																																	0													93	94	94					2																	233744295		2203	4300	6503	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2037G>C	2.37:g.233744295C>G	ENSP00000264051:p.Gln679His		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.Q679H	ENST00000264051.3	37	c.2037	CCDS2500.1	2	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320190	0.41096	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.71817	-0.39;-0.6;-0.56	4.19	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	N	0.24115	0.695	0.53005	D	0.999961	P;D	0.89917	0.613;1.0	B;D	0.83275	0.248;0.996	T	0.73401	-0.3994	10	0.54805	T	0.06	-30.1363	12.2291	0.54478	0.0:0.9142:0.0:0.0858	.	587;679	E9PC42;Q8N5V2	.;NGEF_HUMAN	H	679;587;569;402	ENSP00000264051:Q679H;ENSP00000362653:Q587H;ENSP00000439035:Q402H	ENSP00000264051:Q679H	Q	-	3	2	NGEF	233452539	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.342000	0.43992	0.703000	0.31848	0.558000	0.71614	CAG	NGEF	-	NULL		0.587	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	C	XM_044799		233744295	-1	no_errors	ENST00000264051	ensembl	human	known	70_37	missense	SNP	1.000	G	G	233744295	C	G	233744295	3	3	77	1	0	0	0	0	1	0	0	0	10418	912	32	1	99	1	NGEF	2	233744295	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	55648407	233744295	9455078	26	12037										
MTMR14	64419	genome.wustl.edu	37	chr3	9711148	9711148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atgcctgggcagatgtggagGacgtcacggaggaggactgt	18	7	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:9711148G>T	ENST00000296003.4	+	5	648	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	MTMR14_ENST00000351233.5_Missense_Mutation_p.D176Y|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.D176Y	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	176					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AGATGTGGAGGACGTCACGGA	0.607																																																	0													187	208	201					3																	9711148		2144	4250	6394	SO:0001583	missense	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.526G>T	3.37:g.9711148G>T	ENSP00000296003:p.Asp176Tyr		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.D176Y	ENST00000296003.4	37	c.526	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617647	0.66787	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	.	.	.	5.55	5.55	0.83447	.	0.098388	0.64402	D	0.000001	T	0.74298	0.3698	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.99	D;D;P	0.72338	0.977;0.93;0.73	T	0.75872	-0.3164	9	0.72032	D	0.01	.	17.3062	0.87196	0.0:0.0:1.0:0.0	.	176;176;176	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	Y	176	.	ENSP00000296003:D176Y	D	+	1	0	MTMR14	9686148	1.000000	0.71417	0.157000	0.22605	0.991000	0.79684	7.997000	0.88414	2.615000	0.88500	0.650000	0.86243	GAC	MTMR14	-	NULL		0.607	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	G	NM_022485		9711148	1	no_errors	ENST00000296003	ensembl	human	known	70_37	missense	SNP	0.991	T	T	9711148	G	T	9711148	3	4	77	1	0	0	0	0	1	0	0	0	9965	1174	41	3	544	3	MTMR14	3	9711148	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		9711148	188311282	27	12038										
NGLY1	55768	genome.wustl.edu	37	chr3	25770649	25770649	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gccagtctgtttcaacttttCtgaatatagattccattttc	5	9	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:25770649C>G	ENST00000280700.5	-	10	1746	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	NGLY1_ENST00000417874.2_Missense_Mutation_p.R487T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R529T|NGLY1_ENST00000428257.1_Missense_Mutation_p.R511T|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	529	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCAACTTTTCTGAATATAGA	0.313																																																	0													129	119	122					3																	25770649		2202	4299	6501	SO:0001583	missense	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1586G>C	3.37:g.25770649C>G	ENSP00000280700:p.Arg529Thr		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom	p.R529T	ENST00000280700.5	37	c.1586	CCDS33719.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958460	0.92726	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.82	5.82	0.92795	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.995;0.999;0.957;1.0	T	0.80037	-0.1550	10	0.87932	D	0	-19.6035	20.1006	0.97874	0.0:1.0:0.0:0.0	.	487;511;529;529	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	T	511;529;529;508;487	ENSP00000387430:R511T;ENSP00000280700:R529T;ENSP00000307980:R508T;ENSP00000389888:R487T	ENSP00000280700:R529T	R	-	2	0	NGLY1	25745653	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.545000	0.67237	2.757000	0.94681	0.561000	0.74099	AGA	NGLY1	-	pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_Peptide_N_glycanase_PAW_dom		0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGLY1	HGNC	protein_coding	OTTHUMT00000340832.2	C			25770649	-1	no_errors	ENST00000280700	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25770649	C	G	25770649	3	3	77	1	0	0	0	0	1	0	0	0	10422	913	32	1	390	1	NGLY1	3	25770649	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	16059501	25770649	172251781	28	12039										
GLB1	2720	genome.wustl.edu	37	chr3	33094985	33094985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctcaccctcgattcttaccaAgggtcctttgggctcacact	7	15	3	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:33094985A>T	ENST00000399402.3	-	7	831	c.700T>A	c.(700-702)Ttg>Atg	p.L234M	GLB1_ENST00000307377.8_Missense_Mutation_p.L133M|GLB1_ENST00000445488.2_Missense_Mutation_p.L312M|GLB1_ENST00000307363.5_Missense_Mutation_p.L264M	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	264					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ATTCTTACCAAGGGTCCTTTG	0.478																																																	0													111	109	109					3																	33094985		2003	4187	6190	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.700T>A	3.37:g.33094985A>T	ENSP00000382333:p.Leu234Met		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.L312M	ENST00000399402.3	37	c.934	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543272	0.65198	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377;ENST00000415454	D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89	5.64	1.89	0.25635	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.86953	2.85	0.58432	D	0.999995	D;D;D;D	0.89917	0.995;1.0;0.995;0.995	D;D;D;D	0.91635	0.961;0.999;0.961;0.972	D	0.98344	1.0540	10	0.66056	D	0.02	-21.7655	9.4123	0.38500	0.7915:0.0:0.2085:0.0	.	264;133;264;312	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	M	234;264;312;133;105	ENSP00000382333:L234M;ENSP00000306920:L264M;ENSP00000393377:L312M;ENSP00000305920:L133M;ENSP00000411813:L105M	ENSP00000306920:L264M	L	-	1	2	GLB1	33069989	0.474000	0.25886	0.941000	0.38009	0.715000	0.41141	0.728000	0.26013	0.144000	0.18951	0.460000	0.39030	TTG	GLB1	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF		0.478	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	A	NM_000404		33094985	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	missense	SNP	0.974	T	T	33094985	A	T	33094985	3	4	77	1	0	0	0	0	1	0	0	0	6446	69	3	5	1283	5	GLB1	3	33094985	Missense_Mutation	SNP	A	TCGA-EA-A3Y4-01A-51D-A243-09	7324336	33094985	164927445	29	12040										
ULK4	54986	genome.wustl.edu	37	chr3	41439743	41439743	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	aacatcaaaaatctcaggatCttcattaggaagctgaaaat	6	7	4	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:41439743C>G	ENST00000301831.4	-	35	3967	c.3505G>C	c.(3505-3507)Gat>Cat	p.D1169H		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1169					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATCTCAGGATCTTCATTAGGA	0.378																																																	0													67	62	64					3																	41439743		1816	4080	5896	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3505G>C	3.37:g.41439743C>G	ENSP00000301831:p.Asp1169His		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D1169H	ENST00000301831.4	37	c.3505	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	7.257	0.604455	0.14002	.	.	ENSG00000168038	ENST00000301831	T	0.69435	-0.4	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	5.840820	0.02170	U	0.059595	T	0.66781	0.2824	L	0.38175	1.15	0.80722	D	1	B	0.25719	0.132	B	0.19946	0.027	T	0.36890	-0.9729	10	0.87932	D	0	.	17.6102	0.88050	0.0:1.0:0.0:0.0	.	1169	Q96C45	ULK4_HUMAN	H	1169	ENSP00000301831:D1169H	ENSP00000301831:D1169H	D	-	1	0	ULK4	41414747	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	5.502000	0.66956	2.695000	0.91970	0.462000	0.41574	GAT	ULK4	-	superfamily_ARM-type_fold		0.378	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	C	XM_929989		41439743	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41439743	C	G	41439743	3	3	77	1	0	0	0	0	1	0	0	0	17009	913	32	1	334	1	ULK4	3	41439743	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	8344758	41439743	156582687	30	12041										
QTRTD1	79691	genome.wustl.edu	37	chr3	113798870	113798870	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cggggatgtgccctgactttCagttttgattaccagccgaa	11	10	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:113798870C>G	ENST00000493014.1	+	4	614	c.546C>G	c.(544-546)ttC>ttG	p.F182L	QTRTD1_ENST00000479882.1_Missense_Mutation_p.F165L|QTRTD1_ENST00000485050.1_Missense_Mutation_p.F300L|QTRTD1_ENST00000281273.4_Missense_Mutation_p.F288L	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCCTGACTTTCAGTTTTGATT	0.413																																																	0													177	176	176					3																	113798870		2203	4300	6503	SO:0001583	missense	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.546C>G	3.37:g.113798870C>G	ENSP00000419169:p.Phe182Leu			Missense_Mutation	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans	p.F288L	ENST00000493014.1	37	c.864	CCDS58845.1	3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719326	0.89205	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.89917	1.0;0.988	D;D	0.76071	0.987;0.944	T	0.78548	-0.2162	9	0.72032	D	0.01	-12.7262	15.2448	0.73499	0.0:0.9311:0.0:0.0689	.	182;288	B7Z472;Q9H974	.;QTRD1_HUMAN	L	300;288;165;182	.	ENSP00000281273:F288L	F	+	3	2	QTRTD1	115281560	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.919000	0.48836	2.755000	0.94549	0.650000	0.86243	TTC	QTRTD1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans		0.413	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	HGNC	protein_coding	OTTHUMT00000354711.1	C	NM_024638		113798870	1	no_errors	ENST00000281273	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113798870	C	G	113798870	3	3	77	1	0	0	0	0	1	0	0	0	12916	825	29	1	886	1	QTRTD1	3	113798870	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	72359127	113798870	84223560	31	12042										
MYLK	4638	genome.wustl.edu	37	chr3	123419838	123419838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cacagaggtcctcgcagctgGcaggctccctccccctgcaa	10	18	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:123419838G>A	ENST00000475616.1	-	15	2476	c.2477C>T	c.(2476-2478)gCc>gTc	p.A826V	MYLK_ENST00000360304.3_Missense_Mutation_p.A826V|MYLK_ENST00000346322.5_Missense_Mutation_p.A757V|MYLK_ENST00000360772.3_Missense_Mutation_p.A826V|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.A826V			Q15746	MYLK_HUMAN	myosin light chain kinase	826					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCGCAGCTGGCAGGCTCCCT	0.587																																																	0													24	28	26					3																	123419838		2152	4210	6362	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2477C>T	3.37:g.123419838G>A	ENSP00000418335:p.Ala826Val		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A826V	ENST00000475616.1	37	c.2477	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754959	0.49362	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66638	-0.22;-0.17;-0.22;-0.17;-0.17	5.55	5.55	0.83447	.	.	.	.	.	T	0.60038	0.2238	L	0.44542	1.39	0.80722	D	1	B;B;P;B;B	0.41232	0.04;0.177;0.743;0.18;0.397	B;B;B;B;B	0.40444	0.026;0.097;0.329;0.067;0.146	T	0.56177	-0.8022	9	0.15499	T	0.54	.	16.644	0.85172	0.0:0.0:1.0:0.0	.	826;757;826;757;826	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	V	826;826;826;757;826	ENSP00000354004:A826V;ENSP00000353452:A826V;ENSP00000352088:A826V;ENSP00000320622:A757V;ENSP00000418335:A826V	ENSP00000320622:A757V	A	-	2	0	MYLK	124902528	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.781000	0.55394	2.624000	0.88883	0.561000	0.74099	GCC	MYLK	-	NULL		0.587	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	G	NM_053025		123419838	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123419838	G	A	123419838	3	1	77	1	0	0	0	0	1	0	0	0	10079	1203	42	4	3335	4	MYLK	3	123419838	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	9620968	123419838	74602592	32	12043										
EPHB1	2047	genome.wustl.edu	37	chr3	134670480	134670480	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agaagtcagccttctggtctGaggccccctacctcaaagta	9	13	4	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:134670480G>C	ENST00000398015.3	+	3	761	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	131	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTTCTGGTCTGAGGCCCCCTA	0.512																																																	0													112	111	111					3																	134670480		2002	4223	6225	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.391G>C	3.37:g.134670480G>C	ENSP00000381097:p.Glu131Gln		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E131Q	ENST00000398015.3	37	c.391	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532514	0.85812	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000474732	T;T;T	0.04015	3.73;3.73;3.73	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.109676	0.64402	D	0.000011	T	0.26011	0.0634	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;0.957	D;P	0.73380	0.98;0.782	T	0.01093	-1.1454	10	0.72032	D	0.01	.	19.3701	0.94480	0.0:0.0:1.0:0.0	.	131;131	B5A969;P54762	.;EPHB1_HUMAN	Q	109;131;109	ENSP00000417435:E109Q;ENSP00000381097:E131Q;ENSP00000418352:E109Q	ENSP00000381097:E131Q	E	+	1	0	EPHB1	136153170	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	2.574000	0.86865	0.650000	0.86243	GAG	EPHB1	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.512	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	G	NM_004441		134670480	1	no_errors	ENST00000398015	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134670480	G	C	134670480	3	2	77	1	0	0	0	0	1	0	0	0	5186	1291	45	1	401	1	EPHB1	3	134670480	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	11250642	134670480	63351950	33	12044										
PEX5L	51555	genome.wustl.edu	37	chr3	179754389	179754389	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcatgtgtccctggtacattCtgcttcggtttcttcagggc	11	11	3	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr3:179754389C>T	ENST00000467460.1	-	0	329				PEX5L_ENST00000485199.1_5'UTR|PEX5L_ENST00000263962.8_5'UTR|PEX5L_ENST00000472994.1_5'UTR|PEX5L_ENST00000465751.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like						maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGGTACATTCTGCTTCGGTT	0.527																																																	0													151	154	153					3																	179754389		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.-2G>A	3.37:g.179754389C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	RNA	SNP	-	NULL	ENST00000467460.1	37	NULL	CCDS3236.1	3																																																																																			PEX5L	-	-		0.527	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179754389	-1	no_errors	ENST00000474909	ensembl	human	known	70_37	rna	SNP	1.000	T	T	179754389	C	T	179754389	1	4	77	0	1	0	0	0	0	0	0	0	11773	928	32	1		1	PEX5L	3	179754389	5'UTR	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	45083909	179754389	18268041	34	12045										
KIAA0232	9778	genome.wustl.edu	37	chr4	6862786	6862786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ttcctctcctaaggactgcaAcagtgaaagtgaagtcacca	8	11	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr4:6862786A>G	ENST00000307659.5	+	7	1132	c.677A>G	c.(676-678)aAc>aGc	p.N226S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.N226S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	226							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGGACTGCAACAGTGAAAGT	0.443																																																	0													107	108	108					4																	6862786		2005	4191	6196	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.677A>G	4.37:g.6862786A>G	ENSP00000303928:p.Asn226Ser		A7E2D2	Missense_Mutation	SNP	NULL	p.N226S	ENST00000307659.5	37	c.677	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446172	0.43429	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	4.35	0.52113	.	0.092458	0.64402	D	0.000001	T	0.35451	0.0932	N	0.24115	0.695	0.36440	D	0.865438	B	0.24823	0.112	B	0.20955	0.032	T	0.35151	-0.9800	9	0.59425	D	0.04	-3.1755	7.0656	0.25149	0.7967:0.0:0.0717:0.1316	.	226	Q92628	K0232_HUMAN	S	226	.	ENSP00000303928:N226S	N	+	2	0	KIAA0232	6913687	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	3.144000	0.50616	0.940000	0.37473	0.533000	0.62120	AAC	KIAA0232	-	NULL		0.443	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	A	NM_014743		6862786	1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6862786	A	G	6862786	3	3	77	1	0	0	0	0	1	0	0	0	8183	43	2	5	695	5	KIAA0232	4	6862786	Missense_Mutation	SNP	A	TCGA-EA-A3Y4-01A-51D-A243-09		6862786	184291490	35	12046										
EPHA5	2044	genome.wustl.edu	37	chr4	66356421	66356421	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agatggcattccgaggagcaGaggggggtcctggtttacaa	16	7	0	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr4:66356421G>A	ENST00000273854.3	-	5	1676	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.S359F|EPHA5_ENST00000354839.4_Missense_Mutation_p.S359F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGAGGAGCAGAGGGGGGTCC	0.388										TSP Lung(17;0.13)																																							0													39	39	39					4																	66356421		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1076C>T	4.37:g.66356421G>A	ENSP00000273854:p.Ser359Phe		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S359F	ENST00000273854.3	37	c.1076	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670376	0.88348	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97642	0.31;0.31;-4.47	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000095	D	0.99048	0.9674	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.99174	1.0865	10	0.87932	D	0	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	359;359;359;359	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	359	ENSP00000273854:S359F;ENSP00000346899:S359F;ENSP00000427638:S359F	ENSP00000273854:S359F	S	-	2	0	EPHA5	66039016	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	TCT	EPHA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66356421	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66356421	G	A	66356421	3	1	77	1	0	0	0	0	1	0	0	0	5182	942	33	1	2093	1	EPHA5	4	66356421	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	59493635	66356421	124797855	36	12047										
LEF1	51176	genome.wustl.edu	37	chr4	109000667	109000667	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cacgtgcattaggtcactgtCagtgtggggatgttcctgtt	13	8	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr4:109000667C>T	ENST00000265165.1	-	7	1480	c.826G>A	c.(826-828)Gac>Aac	p.D276N	LEF1_ENST00000438313.2_Missense_Mutation_p.D248N|LEF1_ENST00000379951.2_Missense_Mutation_p.D248N|LEF1_ENST00000510624.1_Missense_Mutation_p.D180N|LEF1_ENST00000503879.1_5'Flank	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	276					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGTCACTGTCAGTGTGGGGA	0.502																																																	0													285	226	246					4																	109000667		2203	4300	6503	SO:0001583	missense	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.826G>A	4.37:g.109000667C>T	ENSP00000265165:p.Asp276Asn		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D276N	ENST00000265165.1	37	c.826	CCDS3679.1	4	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214002	0.79352	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99226	-5.57;-5.56;-5.57;-5.59	5.61	5.61	0.85477	.	0.043155	0.85682	D	0.000000	D	0.98473	0.9491	N	0.14661	0.345	0.80722	D	1	P;B;P;D;B	0.61080	0.734;0.18;0.557;0.989;0.007	B;B;B;P;B	0.61800	0.239;0.112;0.172;0.894;0.009	D	0.99886	1.1124	10	0.46703	T	0.11	-15.8545	19.6476	0.95789	0.0:1.0:0.0:0.0	.	180;133;248;248;276	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	N	276;248;248;180	ENSP00000265165:D276N;ENSP00000369284:D248N;ENSP00000406176:D248N;ENSP00000422840:D180N	ENSP00000265165:D276N	D	-	1	0	LEF1	109220116	0.999000	0.42202	0.997000	0.53966	0.996000	0.88848	3.694000	0.54742	2.653000	0.90120	0.655000	0.94253	GAC	LEF1	-	NULL		0.502	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEF1	HGNC	protein_coding	OTTHUMT00000254749.2	C			109000667	-1	no_errors	ENST00000265165	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109000667	C	T	109000667	3	4	77	1	0	0	0	0	1	0	0	0	8734	826	29	1	477	1	LEF1	4	109000667	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	42644246	109000667	82153609	37	12048										
NDST3	9348	genome.wustl.edu	37	chr4	118975531	118975531	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ttctagataaatactgtgtaGaatatggtgtgggtgtcatt	11	3	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr4:118975531G>C	ENST00000296499.5	+	2	869	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	NDST3_ENST00000433996.2_Missense_Mutation_p.E156Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	156	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATACTGTGTAGAATATGGTGT	0.328																																																	0													54	55	55					4																	118975531		2203	4299	6502	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.466G>C	4.37:g.118975531G>C	ENSP00000296499:p.Glu156Gln		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.E156Q	ENST00000296499.5	37	c.466	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391378	0.62066	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.51325	1.03;0.71	5.3	5.3	0.74995	.	0.101356	0.64402	D	0.000003	T	0.67059	0.2853	L	0.58428	1.81	0.53688	D	0.999979	D;B;B	0.76494	0.999;0.345;0.211	D;B;B	0.87578	0.998;0.279;0.045	T	0.68089	-0.5501	10	0.56958	D	0.05	.	18.9397	0.92600	0.0:0.0:1.0:0.0	.	156;156;156	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	Q	156	ENSP00000296499:E156Q;ENSP00000396625:E156Q	ENSP00000296499:E156Q	E	+	1	0	NDST3	119194979	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	9.829000	0.99411	2.464000	0.83262	0.655000	0.94253	GAA	NDST3	-	pfam_Heparan_SO4_deacetylase		0.328	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	G	NM_004784		118975531	1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118975531	G	C	118975531	3	2	77	1	0	0	0	0	1	0	0	0	10281	943	33	1	468	1	NDST3	4	118975531	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	9974864	118975531	72178745	38	12049										
SPATA5	166378	genome.wustl.edu	37	chr4	123850306	123850306	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atgccatccaggtccagcctCttgtgggtgctgtgctacag	12	12	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr4:123850306C>G	ENST00000274008.4	+	3	469	c.400C>G	c.(400-402)Ctt>Gtt	p.L134V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GGTCCAGCCTCTTGTGGGTGC	0.522																																																	0													130	118	122					4																	123850306		2203	4300	6503	SO:0001583	missense	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.400C>G	4.37:g.123850306C>G	ENSP00000274008:p.Leu134Val		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.L134V	ENST00000274008.4	37	c.400	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	5.833	0.337927	0.11013	.	.	ENSG00000145375	ENST00000274008	D	0.94687	-3.49	4.63	0.513	0.17000	Aspartate decarboxylase-like fold (1);	0.444910	0.22284	N	0.062086	D	0.86016	0.5832	L	0.27053	0.805	0.09310	N	0.999997	B;B	0.14805	0.007;0.011	B;B	0.16722	0.004;0.016	T	0.71391	-0.4607	10	0.20046	T	0.44	-18.7682	3.93	0.09281	0.2403:0.278:0.4007:0.0811	.	134;134	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	V	134	ENSP00000274008:L134V	ENSP00000274008:L134V	L	+	1	0	SPATA5	124069756	0.392000	0.25229	0.775000	0.31657	0.943000	0.58893	0.040000	0.13905	0.150000	0.19136	0.561000	0.74099	CTT	SPATA5	-	superfamily_Asp_de-COase-like_fold		0.522	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	C	NM_145207		123850306	1	no_errors	ENST00000274008	ensembl	human	known	70_37	missense	SNP	0.036	G	G	123850306	C	G	123850306	3	3	77	1	0	0	0	0	1	0	0	0	15041	913	32	1	410	1	SPATA5	4	123850306	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	4874775	123850306	67303970	39	12050										
CLPTM1L	81037	genome.wustl.edu	37	chr5	1344504	1344504	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	acatcaaagtcttccacattCaagaccaggtcgatgttgtt	7	10	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr5:1344504C>G	ENST00000320895.5	-	2	482	c.225G>C	c.(223-225)ttG>ttC	p.L75F	CLPTM1L_ENST00000507807.1_5'Flank|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.L75F	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	75					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CTTCCACATTCAAGACCAGGT	0.502																																																	0													97	86	90					5																	1344504		2203	4299	6502	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.225G>C	5.37:g.1344504C>G	ENSP00000313854:p.Leu75Phe		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.L75F	ENST00000320895.5	37	c.225	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	C	3.905	-0.021333	0.07634	.	.	ENSG00000049656	ENST00000320895;ENST00000320927	T;T	0.46819	0.88;0.86	4.76	2.94	0.34122	.	0.167395	0.38164	N	0.001783	T	0.31765	0.0807	L	0.36672	1.1	0.43088	D	0.994751	B	0.23128	0.08	B	0.19946	0.027	T	0.06770	-1.0808	10	0.10902	T	0.67	-23.9541	9.1035	0.36683	0.0:0.762:0.0:0.238	.	75	Q96KA5	CLP1L_HUMAN	F	75	ENSP00000313854:L75F;ENSP00000315196:L75F	ENSP00000313854:L75F	L	-	3	2	CLPTM1L	1397504	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	1.206000	0.32321	0.981000	0.38548	0.650000	0.86243	TTG	CLPTM1L	-	pfam_CLPTM1		0.502	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	C	NM_030782		1344504	-1	no_errors	ENST00000320895	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1344504	C	G	1344504	3	3	77	1	0	0	0	0	1	0	0	0	3560	825	29	1	1455	1	CLPTM1L	5	1344504	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		1344504	179570756	40	12051										
CLPTM1L	81037	genome.wustl.edu	37	chr5	1344527	1344527	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gaccaggtcgatgttgttctCagcacccaggtgggacctcg	13	12	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr5:1344527C>T	ENST00000320895.5	-	2	459	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CLPTM1L_ENST00000507807.1_5'Flank|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.E68K	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	68					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ATGTTGTTCTCAGCACCCAGG	0.542																																																	0													95	84	88					5																	1344527		2203	4299	6502	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.202G>A	5.37:g.1344527C>T	ENSP00000313854:p.Glu68Lys		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.E68K	ENST00000320895.5	37	c.202	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873046	0.51695	.	.	ENSG00000049656	ENST00000320895;ENST00000320927	T;T	0.43688	0.96;0.94	4.76	4.76	0.60689	.	0.169753	0.50627	D	0.000109	T	0.33904	0.0879	L	0.36672	1.1	0.80722	D	1	B	0.26902	0.163	B	0.20384	0.029	T	0.10451	-1.0629	10	0.19147	T	0.46	-41.9525	17.7744	0.88503	0.0:1.0:0.0:0.0	.	68	Q96KA5	CLP1L_HUMAN	K	68	ENSP00000313854:E68K;ENSP00000315196:E68K	ENSP00000313854:E68K	E	-	1	0	CLPTM1L	1397527	0.999000	0.42202	0.872000	0.34217	0.005000	0.04900	4.468000	0.60162	2.186000	0.69663	0.650000	0.86243	GAG	CLPTM1L	-	pfam_CLPTM1		0.542	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	C	NM_030782		1344527	-1	no_errors	ENST00000320895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1344527	C	T	1344527	3	4	77	1	0	0	0	0	1	0	0	0	3560	835	29	1	1478	1	CLPTM1L	5	1344527	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	23	1344527	179570733	41	12052										
WDR70	55100	genome.wustl.edu	37	chr5	37727020	37727020	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ttggaacccacgggggcactCtctcttcctatattgtgaag	10	11	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr5:37727020C>G	ENST00000265107.4	+	17	1906	c.1750C>G	c.(1750-1752)Ctc>Gtc	p.L584V		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	584							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGGGGCACTCTCTCTTCCTA	0.458																																																	0													108	108	108					5																	37727020		2203	4300	6503	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1750C>G	5.37:g.37727020C>G	ENSP00000265107:p.Leu584Val		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L584V	ENST00000265107.4	37	c.1750	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383593	0.61845	.	.	ENSG00000082068	ENST00000265107	T	0.70516	-0.49	5.51	3.4	0.38934	.	0.000000	0.64402	D	0.000003	D	0.83908	0.5356	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85787	0.1365	10	0.72032	D	0.01	-48.5231	10.8233	0.46617	0.0:0.7198:0.0:0.2802	.	584	Q9NW82	WDR70_HUMAN	V	584	ENSP00000265107:L584V	ENSP00000265107:L584V	L	+	1	0	WDR70	37762777	0.758000	0.28405	1.000000	0.80357	0.933000	0.57130	1.293000	0.33353	1.330000	0.45394	-0.145000	0.13849	CTC	WDR70	-	NULL		0.458	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	C	NM_018034		37727020	1	no_errors	ENST00000265107	ensembl	human	known	70_37	missense	SNP	0.994	G	G	37727020	C	G	37727020	3	3	77	1	0	0	0	0	1	0	0	0	17352	913	32	1	1816	1	WDR70	5	37727020	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	36382493	37727020	143188240	42	12053										
HCN1	348980	genome.wustl.edu	37	chr5	45645500	45645500	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tttaaataattcatcttgatCactttggggtccaggatgat	8	6	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr5:45645500C>A	ENST00000303230.4	-	2	693	c.636G>T	c.(634-636)gtG>gtT	p.V212V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	212					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATCTTGATCACTTTGGGGT	0.378																																																	0													89	84	86					5																	45645500		2203	4300	6503	SO:0001819	synonymous_variant	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.636G>T	5.37:g.45645500C>A				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.V212	ENST00000303230.4	37	c.636	CCDS3952.1	5																																																																																			HCN1	-	pfam_Ion_trans_dom		0.378	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45645500	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	silent	SNP	0.997	A	A	45645500	C	A	45645500	2	1	77	1	0	0	0	0	0	0	0	1	7016	813	29	3		3	HCN1	5	45645500	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	7918480	45645500	135269760	43	12054										
PHAX	51808	genome.wustl.edu	37	chr5	125939337	125939337	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gtgcaccagtatcacattatCgagctgttgaaagtgtggat	11	7	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr5:125939337C>T	ENST00000297540.4	+	2	867	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	58	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ATCACATTATCGAGCTGTTGA	0.433																																																	0													140	142	141					5																	125939337		2203	4300	6503	SO:0001587	stop_gained	51808			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.172C>T	5.37:g.125939337C>T	ENSP00000297540:p.Arg58*		Q9H8W1	Nonsense_Mutation	SNP	pfam_PHAX_RNA-binding_domain	p.R58*	ENST00000297540.4	37	c.172	CCDS4138.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.481153	0.98829	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	.	.	.	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1355	15.2142	0.73250	0.2555:0.7445:0.0:0.0	.	.	.	.	X	58	.	ENSP00000297540:R58X	R	+	1	2	PHAX	125967236	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.746000	0.68681	1.422000	0.47177	-0.169000	0.13324	CGA	PHAX	-	NULL		0.433	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1	C	NM_032177		125939337	1	no_errors	ENST00000297540	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	125939337	C	T	125939337	4	4	77	1	0	0	0	0	0	1	0	0	11837	876	31	1	178	1	PHAX	5	125939337	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	80293837	125939337	54975923	44	12055										
HIST1H2BG	8339	genome.wustl.edu	37	chr6	26216559	26216559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgcgtgcttggccagctctcCgggaagcagcagacgcacgg	15	13	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:26216559C>T	ENST00000244601.3	-	1	313	c.313G>A	c.(313-315)Gga>Aga	p.G105R	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	105					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GCCAGCTCTCCGGGAAGCAGC	0.567																																																	0													93	93	93					6																	26216559		2203	4300	6503	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.313G>A	6.37:g.26216559C>T	ENSP00000244601:p.Gly105Arg		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.G105R	ENST00000244601.3	37	c.313	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	16.71	3.199773	0.58126	.	.	ENSG00000187990	ENST00000244601	T	0.61742	0.08	3.89	3.89	0.44902	.	0.000000	0.33553	U	0.004795	T	0.64305	0.2586	.	.	.	0.44469	D	0.997406	.	.	.	.	.	.	T	0.70238	-0.4927	7	0.72032	D	0.01	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	R	105	ENSP00000244601:G105R	ENSP00000244601:G105R	G	-	1	0	HIST1H2BG	26324538	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	7.499000	0.81566	2.172000	0.68678	0.561000	0.74099	GGA	HIST1H2BG	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.567	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	C	NM_003518		26216559	-1	no_errors	ENST00000244601	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26216559	C	T	26216559	3	4	77	1	0	0	0	0	1	0	0	0	7166	661	23	2	71	2	HIST1H2BG	6	26216559	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		26216559	144898508	45	12056										
HLA-C	3107	genome.wustl.edu	37	chr6	31239015	31239015	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggtccaggagcgcaggtcctCgttcagggcgatgtaatcct	14	11	1	0	rs281860484		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:31239015C>A	ENST00000376228.5	-	3	468	c.454G>T	c.(454-456)Gag>Tag	p.E152*	HLA-C_ENST00000383329.3_Nonsense_Mutation_p.E152*	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	152	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGCAGGTCCTCGTTCAGGGCG	0.692																																																	0													37	28	31					6																	31239015		2188	4258	6446	SO:0001587	stop_gained	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.454G>T	6.37:g.31239015C>A	ENSP00000365402:p.Glu152*		O02864|O02958|Q29643|Q9MY30	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E189*	ENST00000376228.5	37	c.565	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.07|18.07	3.542100|3.542100	0.65198|0.65198	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	.|.	.|.	.|.	2.81|2.81	1.93|1.93	0.25924|0.25924	.|.	0.822880|.	0.09658|.	U|.	0.772841|.	.|T	.|0.20088	.|0.0483	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.09952	.|-1.0651	.|3	0.72032|.	D|.	0.01|.	.|.	4.9446|4.9446	0.13984|0.13984	0.0:0.7119:0.0:0.2881|0.0:0.7119:0.0:0.2881	.|.	.|.	.|.	.|.	X|L	152;152;152;189|151	.|.	ENSP00000365402:E152X|.	E|R	-|-	1|2	0|0	HLA-C|HLA-C	31346994|31346994	0.000000|0.000000	0.05858|0.05858	0.987000|0.987000	0.45799|0.45799	0.094000|0.094000	0.18550|0.18550	-0.373000|-0.373000	0.07494|0.07494	0.751000|0.751000	0.32900|0.32900	0.305000|0.305000	0.20034|0.20034	GAG|CGA	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31239015	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	nonsense	SNP	0.987	A	A	31239015	C	A	31239015	4	1	77	1	0	0	0	0	0	1	0	0	7217	893	31	3	670	3	HLA-C	6	31239015	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	5022456	31239015	139876052	46	12057										
MICA	100507436	genome.wustl.edu	37	chr6	31379931	31379931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	1	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggtggccaccaggatttgccGaggagaggagcagaggttca	17	8	1	2	rs1063635	byFrequency	TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:31379931A>T	ENST00000449934.2	+	4	875	c.821A>T	c.(820-822)cAa>cTa	p.Q274L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				AGGATTTGCCGAGGAGAGGAG	0.602																																																	0													20	19	19					6																	31379931		692	1591	2283	SO:0001583	missense	100507436			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.821A>T	6.37:g.31379931A>T	ENSP00000413079:p.Gln274Leu			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R274L	ENST00000449934.2	37	c.821	CCDS56412.1	6																																																																																			MICA	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7	A	NM_001177519		31379931	1	no_errors	ENST00000364810	ensembl	human	known	70_37	missense	SNP	0.001	T	T	31379931	A	T	31379931	3	4	77	1	0	0	0	0	1	0	0	0	9591	1058	37	3	835	3	MICA	6	31379931	Missense_Mutation	SNP	A	TCGA-EA-A3Y4-01A-51D-A243-09	140916	31379931	139735136	47	12058										
SLC22A7	10864	genome.wustl.edu	37	chr6	43267781	43267781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctagctgtcaccctgccttgTgccccaggcatcctcagcct	8	18	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:43267781T>C	ENST00000372585.5	+	5	899	c.804T>C	c.(802-804)tgT>tgC	p.C268C	SLC22A7_ENST00000372574.3_Silent_p.C266C|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.C266C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	268					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCCTGCCTTGTGCCCCAGGCA	0.582																																																	0													168	126	140					6																	43267781		2203	4300	6503	SO:0001819	synonymous_variant	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.804T>C	6.37:g.43267781T>C			B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.C268	ENST00000372585.5	37	c.804	CCDS4893.2	6																																																																																			SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.582	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	T			43267781	1	no_errors	ENST00000372585	ensembl	human	known	70_37	silent	SNP	0.002	C	C	43267781	T	C	43267781	2	2	77	1	0	0	0	0	0	0	0	1	14489	1702	59	5		5	SLC22A7	6	43267781	Silent	SNP	T	TCGA-EA-A3Y4-01A-51D-A243-09	11887850	43267781	127847286	48	12059										
BAI3	577	genome.wustl.edu	37	chr6	69703686	69703686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gagcaccttgctaaggggcaGcgaatgctggcaggtgatgg	17	8	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:69703686G>A	ENST00000370598.1	+	11	2582	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	587					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTAAGGGGCAGCGAATGCTGG	0.418																																																	0													210	225	220					6																	69703686		2203	4300	6503	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1761G>A	6.37:g.69703686G>A			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.Q587	ENST00000370598.1	37	c.1761	CCDS4968.1	6																																																																																			BAI3	-	pfam_DUF3497		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69703686	1	no_errors	ENST00000370598	ensembl	human	known	70_37	silent	SNP	0.989	A	A	69703686	G	A	69703686	2	1	77	1	0	0	0	0	0	0	0	1	1301	962	34	4		4	BAI3	6	69703686	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	26435905	69703686	101411381	49	12060										
C6orf221	154288	genome.wustl.edu	37	chr6	74072594	74072594	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atccgaaggtagttcgccttGaggtttggctggtggaaaag	15	6	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:74072594G>A	ENST00000370367.3	+	1	195	c.142G>A	c.(142-144)Gag>Aag	p.E48K		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	48	KH; atypical.						RNA binding (GO:0003723)										AGTTCGCCTTGAGGTTTGGCT	0.557																																																	0													96	95	96					6																	74072594		2203	4300	6503	SO:0001583	missense	154288			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.142G>A	6.37:g.74072594G>A	ENSP00000359392:p.Glu48Lys		B2RNW7	Missense_Mutation	SNP	NULL	p.E48K	ENST00000370367.3	37	c.142	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694843	0.48202	.	.	ENSG00000203908	ENST00000370367	T	0.42131	0.98	3.53	2.66	0.31614	.	0.000000	0.44902	D	0.000412	T	0.42086	0.1187	M	0.62723	1.935	0.26589	N	0.973232	D	0.71674	0.998	D	0.73380	0.98	T	0.16276	-1.0408	10	0.87932	D	0	-42.4705	6.9721	0.24654	0.1244:0.0:0.8756:0.0	.	48	Q587J8	ECAT1_HUMAN	K	48	ENSP00000359392:E48K	ENSP00000359392:E48K	E	+	1	0	C6orf221	74129315	0.969000	0.33509	0.525000	0.27900	0.367000	0.29736	2.490000	0.45294	1.083000	0.41159	0.561000	0.74099	GAG	KHDC3L	-	NULL		0.557	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	HGNC	protein_coding	OTTHUMT00000041202.3	G	NM_001017361		74072594	1	no_errors	ENST00000370367	ensembl	human	known	70_37	missense	SNP	0.528	A	A	74072594	G	A	74072594	3	1	77	1	0	0	0	0	1	0	0	0	2360	1291	45	1	144	1	C6orf221	6	74072594	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	4368908	74072594	97042473	50	12061										
C6orf182	285753	genome.wustl.edu	37	chr6	109471422	109471422	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tcaacgtagagcgagaaaagAacatgatcctagaacaacag	9	8	1	5			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:109471422A>C	ENST00000517392.1	+	4	868	c.442A>C	c.(442-444)Aac>Cac	p.N148H	CEP57L1_ENST00000520883.1_Missense_Mutation_p.N72H|CEP57L1_ENST00000519095.1_Missense_Mutation_p.N148H|CEP57L1_ENST00000521277.1_Missense_Mutation_p.N132H|CEP57L1_ENST00000407272.1_Missense_Mutation_p.N148H|CEP57L1_ENST00000523787.1_Missense_Mutation_p.N151H|CEP57L1_ENST00000368970.2_Missense_Mutation_p.N148H|CEP57L1_ENST00000336977.4_Missense_Mutation_p.N72H|CEP57L1_ENST00000368968.2_Missense_Mutation_p.N148H|CEP57L1_ENST00000521522.1_Missense_Mutation_p.N148H|CEP57L1_ENST00000359793.3_Missense_Mutation_p.N148H	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	148					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GCGAGAAAAGAACATGATCCT	0.323																																																	0													98	100	99					6																	109471422		2203	4300	6503	SO:0001583	missense	285753			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.442A>C	6.37:g.109471422A>C	ENSP00000427844:p.Asn148His		G5E992	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.N148H	ENST00000517392.1	37	c.442	CCDS5071.1	6	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642101	0.67244	.	.	ENSG00000183137	ENST00000521277;ENST00000517392;ENST00000407272;ENST00000336977;ENST00000540778;ENST00000519286;ENST00000518853;ENST00000521522;ENST00000524064;ENST00000519407;ENST00000519095;ENST00000368968;ENST00000522490;ENST00000523209;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T;D;T;T;T;D;T;T;T;T	0.82984	0.92;-1.16;-1.16;0.92;0.92;-1.16;0.92;0.92;-1.67;-1.16;-1.16;0.92;-1.67;-1.16;0.92;-1.16;-1.16	5.35	5.35	0.76521	.	0.537042	0.23219	N	0.050586	D	0.82912	0.5140	L	0.50333	1.59	0.21579	N	0.99963	D;P;P;P	0.56521	0.976;0.915;0.915;0.915	P;P;P;P	0.60068	0.868;0.792;0.83;0.83	T	0.78612	-0.2136	10	0.72032	D	0.01	-3.7252	14.9822	0.71319	1.0:0.0:0.0:0.0	.	148;148;148;132	Q8IYX8;G5E992;Q6P2R3;E5RJH1	CE57L_HUMAN;.;.;.	H	132;148;148;72;148;148;148;148;148;10;148;148;10;10;148;72;151;148	ENSP00000430558:N132H;ENSP00000427844:N148H;ENSP00000383936:N148H;ENSP00000337392:N72H;ENSP00000429812:N148H;ENSP00000430265:N148H;ENSP00000428344:N148H;ENSP00000427771:N148H;ENSP00000430565:N10H;ENSP00000430911:N148H;ENSP00000357964:N148H;ENSP00000429957:N10H;ENSP00000430013:N10H;ENSP00000357966:N148H;ENSP00000430011:N72H;ENSP00000430529:N151H;ENSP00000352841:N148H	ENSP00000337392:N72H	N	+	1	0	CEP57L1	109578115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.612000	0.54142	2.028000	0.59812	0.379000	0.24179	AAC	CEP57L1	-	pfam_Cep57_MT-bd_dom		0.323	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	CEP57L1	HGNC	protein_coding	OTTHUMT00000041734.4	A	NM_173830		109471422	1	no_errors	ENST00000359793	ensembl	human	known	70_37	missense	SNP	0.951	C	C	109471422	A	C	109471422	3	2	77	1	0	0	0	0	1	0	0	0	2351	246	9	5	452	5	C6orf182	6	109471422	Missense_Mutation	SNP	A	TCGA-EA-A3Y4-01A-51D-A243-09	35398828	109471422	61643645	51	12062										
REV3L	5980	genome.wustl.edu	37	chr6	111694699	111694699	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gatctgaaaaaaagatgggaCtatcatctgatacagagtta	9	5	3	4			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:111694699C>G	ENST00000358835.3	-	14	5313	c.4859G>C	c.(4858-4860)aGt>aCt	p.S1620T	REV3L_ENST00000368805.1_Missense_Mutation_p.S1620T|REV3L_ENST00000435970.1_Missense_Mutation_p.S1542T|REV3L_ENST00000368802.3_Missense_Mutation_p.S1620T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1620					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGATGGGACTATCATCTGA	0.308								DNA polymerases (catalytic subunits)																																									0													64	71	69					6																	111694699		2198	4294	6492	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4859G>C	6.37:g.111694699C>G	ENSP00000351697:p.Ser1620Thr		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1620T	ENST00000358835.3	37	c.4859	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148391	0.57151	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02158	4.51;4.51;4.51;4.42	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.161691	0.56097	D	0.000036	T	0.03739	0.0106	M	0.63843	1.955	0.36119	D	0.845321	P	0.52842	0.956	P	0.47528	0.549	T	0.41360	-0.9513	10	0.62326	D	0.03	-6.8205	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1620	O60673	DPOLZ_HUMAN	T	1620;1620;1620;1542	ENSP00000357792:S1620T;ENSP00000357795:S1620T;ENSP00000351697:S1620T;ENSP00000402003:S1542T	ENSP00000351697:S1620T	S	-	2	0	REV3L	111801392	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.453000	0.66645	2.873000	0.98535	0.563000	0.77884	AGT	REV3L	-	superfamily_RNaseH-like_dom		0.308	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	C	NM_002912		111694699	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111694699	C	G	111694699	3	3	77	1	0	0	0	0	1	0	0	0	13270	565	20	4	4613	4	REV3L	6	111694699	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	2223277	111694699	59420368	52	12063										
C6orf170	221322	genome.wustl.edu	37	chr6	121631950	121631950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	taggttgcccaggatccaacTggtctaaaatcaattgtaat	8	8	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:121631950T>C	ENST00000398212.2	-	4	588	c.539A>G	c.(538-540)cAg>cGg	p.Q180R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Q180R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	180					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										aggatccaactggtctaaaat	0.328																																																	0													55	52	53					6																	121631950		1814	4076	5890	SO:0001583	missense	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.539A>G	6.37:g.121631950T>C	ENSP00000381270:p.Gln180Arg		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.Q180R	ENST00000398212.2	37	c.539	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	T	11.89	1.772818	0.31411	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.17528	2.27;2.27;2.27	4.96	3.82	0.43975	.	0.304208	0.33753	N	0.004588	T	0.03564	0.0102	L	0.35723	1.085	0.28851	N	0.896038	B	0.12013	0.005	B	0.06405	0.002	T	0.38757	-0.9646	10	0.10636	T	0.68	-9.686	6.6074	0.22734	0.0:0.1033:0.0:0.8967	.	180	Q96NH3	BROMI_HUMAN	R	180	ENSP00000275159:Q180R;ENSP00000381270:Q180R;ENSP00000397993:Q180R	ENSP00000275159:Q180R	Q	-	2	0	C6orf170	121673649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.006000	0.40874	2.167000	0.68274	0.482000	0.46254	CAG	C6orf170	-	NULL		0.328	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C6orf170	HGNC	protein_coding	OTTHUMT00000380937.2	T	NM_152730		121631950	-1	no_errors	ENST00000275159	ensembl	human	putative	70_37	missense	SNP	1.000	C	C	121631950	T	C	121631950	3	2	77	1	0	0	0	0	1	0	0	0	2349	1580	55	5	3350	5	C6orf170	6	121631950	Missense_Mutation	SNP	T	TCGA-EA-A3Y4-01A-51D-A243-09	9937251	121631950	49483117	53	12064										
MAP3K4	4216	genome.wustl.edu	37	chr6	161519323	161519323	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gtcttagcactcggagcatgCcttccgacgcgcggagccat	12	14	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr6:161519323C>G	ENST00000392142.4	+	17	3686	c.3538C>G	c.(3538-3540)Cct>Gct	p.P1180A	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1176A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1180					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCGGAGCATGCCTTCCGACGC	0.527																																																	0													134	144	141					6																	161519323		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3538C>G	6.37:g.161519323C>G	ENSP00000375986:p.Pro1180Ala		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.P1180A	ENST00000392142.4	37	c.3538	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803307	0.31869	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.70869	-0.49;-0.52	5.75	3.97	0.46021	.	0.070085	0.64402	D	0.000019	T	0.42381	0.1200	L	0.29908	0.895	0.80722	D	1	B;B	0.26400	0.144;0.148	B;B	0.26094	0.066;0.055	T	0.46176	-0.9210	10	0.66056	D	0.02	-10.8711	9.9884	0.41856	0.0:0.79:0.1378:0.0722	.	1176;1180	F5H538;Q9Y6R4	.;M3K4_HUMAN	A	1180;1176	ENSP00000375986:P1180A;ENSP00000355887:P1176A	ENSP00000355887:P1176A	P	+	1	0	MAP3K4	161439313	1.000000	0.71417	0.952000	0.39060	0.280000	0.26924	3.152000	0.50677	0.763000	0.33175	0.650000	0.86243	CCT	MAP3K4	-	NULL		0.527	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161519323	1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	G	G	161519323	C	G	161519323	3	3	77	1	0	0	0	0	1	0	0	0	9275	739	26	4	3604	4	MAP3K4	6	161519323	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	39887373	161519323	9595744	54	12065										
PDE1C	5137	genome.wustl.edu	37	chr7	31887617	31887617	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gagaggttaatcaaaatattCatttcctcgtcatcttgcag	7	8	4	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr7:31887617C>G	ENST00000396191.1	-	9	1400	c.945G>C	c.(943-945)atG>atC	p.M315I	PDE1C_ENST00000396182.2_Missense_Mutation_p.M315I|PDE1C_ENST00000321453.7_Missense_Mutation_p.M315I|PDE1C_ENST00000396193.1_Missense_Mutation_p.M375I|PDE1C_ENST00000396184.3_Missense_Mutation_p.M315I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	315	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCAAAATATTCATTTCCTCGT	0.408																																																	0													110	102	105					7																	31887617		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.945G>C	7.37:g.31887617C>G	ENSP00000379494:p.Met315Ile		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.M315I	ENST00000396191.1	37	c.945	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177349	0.78564	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	6.06	6.06	0.98353	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.81597	0.4856	L	0.42245	1.32	0.80722	D	1	B;P;P	0.44627	0.161;0.559;0.839	B;B;P	0.47891	0.137;0.268;0.56	T	0.78463	-0.2194	10	0.34782	T	0.22	.	20.2348	0.98355	0.0:1.0:0.0:0.0	.	315;375;315	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	I	375;315;315;315;315	ENSP00000379496:M375I;ENSP00000379494:M315I;ENSP00000318105:M315I;ENSP00000379487:M315I;ENSP00000379485:M315I	ENSP00000318105:M315I	M	-	3	0	PDE1C	31854142	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	ATG	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.408	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	C			31887617	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31887617	C	G	31887617	3	3	77	1	0	0	0	0	1	0	0	0	11659	826	29	1	995	1	PDE1C	7	31887617	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		31887617	127251046	55	12066										
ABCA13	154664	genome.wustl.edu	37	chr7	48450142	48450142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	acgatcatcttcacaacccaCcacctggatgaagctgaagc	7	14	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr7:48450142C>A	ENST00000435803.1	+	40	12120	c.12096C>A	c.(12094-12096)caC>caA	p.H4032Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4032	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H3977Q(1)|p.H4032Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACAACCCACCACCTGGATG	0.607																																																	2	Substitution - Missense(2)	large_intestine(2)											111	107	108					7																	48450142		2066	4219	6285	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12096C>A	7.37:g.48450142C>A	ENSP00000411096:p.His4032Gln		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H4032Q	ENST00000435803.1	37	c.12096	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041493	0.55003	.	.	ENSG00000179869	ENST00000435803	D	0.99607	-6.27	5.33	1.52	0.23074	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.52532	D	0.000080	D	0.99527	0.9831	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.99774	1.1025	10	0.87932	D	0	.	9.1481	0.36946	0.0:0.7018:0.0:0.2982	.	1734;4032	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Q	4032	ENSP00000411096:H4032Q	ENSP00000411096:H4032Q	H	+	3	2	ABCA13	48420688	1.000000	0.71417	0.995000	0.50966	0.428000	0.31595	1.490000	0.35573	0.337000	0.23665	-0.126000	0.14955	CAC	ABCA13	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.607	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48450142	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48450142	C	A	48450142	3	1	77	1	0	0	0	0	1	0	0	0	31	506	18	4	12083	4	ABCA13	7	48450142	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	16562525	48450142	110688521	56	12067										
AUTS2	26053	genome.wustl.edu	37	chr7	70255460	70255460	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cgagaacttgacattcaccgGagagacccgctgggcaggga	14	11	1	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr7:70255460G>A	ENST00000342771.4	+	19	3579	c.3258G>A	c.(3256-3258)cgG>cgA	p.R1086R	AUTS2_ENST00000406775.2_Silent_p.R1062R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1086										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACATTCACCGGAGAGACCCGC	0.662																																																	0													19	22	21					7																	70255460		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3258G>A	7.37:g.70255460G>A			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	prints_AUTS2	p.R1086	ENST00000342771.4	37	c.3258	CCDS5539.1	7																																																																																			AUTS2	-	NULL		0.662	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	G			70255460	1	no_errors	ENST00000342771	ensembl	human	known	70_37	silent	SNP	0.999	A	A	70255460	G	A	70255460	2	1	77	1	0	0	0	0	0	0	0	1	1226	1161	41	1		1	AUTS2	7	70255460	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	21805318	70255460	88883203	57	12068										
SPDYE3	441272	genome.wustl.edu	37	chr7	99905525	99905525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gatcatgacgagccatcaacCgcagccccaggaagagcaga	11	13	2	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr7:99905525C>T	ENST00000332397.6	+	1	201	c.17C>T	c.(16-18)cCg>cTg	p.P6L	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	6										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						AGCCATCAACCGCAGCCCCAG	0.572																																																	0													16	15	15					7																	99905525		874	1984	2858	SO:0001583	missense	441272			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.17C>T	7.37:g.99905525C>T	ENSP00000329565:p.Pro6Leu		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.P6L	ENST00000332397.6	37	c.17	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291455	0.23564	.	.	ENSG00000214300	ENST00000332397	.	.	.	0.128	0.128	0.14733	.	.	.	.	.	T	0.16171	0.0389	N	0.14661	0.345	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29731	-1.0002	5	0.08381	T	0.77	.	.	.	.	.	.	.	.	L	6	.	ENSP00000329565:P6L	P	+	2	0	SPDYE3	99743461	0.188000	0.23250	0.007000	0.13788	0.007000	0.05969	-0.773000	0.04689	0.283000	0.22279	0.289000	0.19496	CCG	SPDYE3	-	NULL		0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	C	NM_001004351		99905525	1	no_errors	ENST00000332397	ensembl	human	known	70_37	missense	SNP	0.008	T	T	99905525	C	T	99905525	3	4	77	1	0	0	0	0	1	0	0	0	15060	652	23	2	19	2	SPDYE3	7	99905525	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	29650065	99905525	59233138	58	12069										
SLC13A1	6561	genome.wustl.edu	37	chr7	122787347	122787347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cccttctttgttcgatatttGgttctcatgcctgagttctg	8	10	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr7:122787347G>T	ENST00000194130.2	-	7	717	c.678C>A	c.(676-678)acC>acA	p.T226T	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	226					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTCGATATTTGGTTCTCATGC	0.433																																																	0													190	147	162					7																	122787347		2203	4300	6503	SO:0001819	synonymous_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.678C>A	7.37:g.122787347G>T			Q9H5Z0	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T226	ENST00000194130.2	37	c.678	CCDS5786.1	7																																																																																			SLC13A1	-	pfam_Na/sul_symport		0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	G	NM_022444		122787347	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	silent	SNP	0.001	T	T	122787347	G	T	122787347	2	4	77	1	0	0	0	0	0	0	0	1	14421	1335	47	4		4	SLC13A1	7	122787347	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	22881822	122787347	36351316	59	12070										
ABCF2	10061	genome.wustl.edu	37	chr7	150913103	150913103	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gtgttttcggatcatgccatCtgtgggtagtagctaggaag	14	6	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr7:150913103C>T	ENST00000287844.2	-	12	1460	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.D451N	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	451	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCATGCCATCTGTGGGTAGT	0.483																																																	0													110	98	102					7																	150913103		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1351G>A	7.37:g.150913103C>T	ENSP00000287844:p.Asp451Asn		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D451N	ENST00000287844.2	37	c.1351	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314624	0.40996	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.93366	-3.21;-3.21	5.5	3.57	0.40892	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	N	0.17674	0.51	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.34242	0.178;0.178	T	0.82168	-0.0591	10	0.25751	T	0.34	-25.6209	11.2403	0.48966	0.1432:0.7188:0.138:0.0	.	451;451	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	N	451	ENSP00000222388:D451N;ENSP00000287844:D451N	ENSP00000222388:D451N	D	-	1	0	ABCF2	150544036	1.000000	0.71417	0.979000	0.43373	0.338000	0.28826	5.168000	0.64978	1.288000	0.44600	-0.181000	0.13052	GAT	ABCF2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.483	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	C	NM_005692		150913103	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150913103	C	T	150913103	3	4	77	1	0	0	0	0	1	0	0	0	66	913	32	1	577	1	ABCF2	7	150913103	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	28125756	150913103	8225560	60	12071										
UNC5D	137970	genome.wustl.edu	37	chr8	35542112	35542112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tctctcagtgaatggaggctGgtcttcctggacagagtggt	14	8	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:35542112G>T	ENST00000404895.2	+	6	1092	c.764G>T	c.(763-765)tGg>tTg	p.W255L	UNC5D_ENST00000416672.1_Missense_Mutation_p.W255L|UNC5D_ENST00000453357.2_Missense_Mutation_p.W250L|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	255	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				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)		AATGGAGGCTGGTCTTCCTGG	0.532																																																	0													107	102	104					8																	35542112		2203	4300	6503	SO:0001583	missense	137970			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.764G>T	8.37:g.35542112G>T	ENSP00000385143:p.Trp255Leu		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.W255L	ENST00000404895.2	37	c.764	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838008	0.91117	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.19105	2.17;2.17;2.17	5.06	5.06	0.68205	.	0.110191	0.64402	D	0.000003	T	0.37839	0.1018	M	0.90425	3.115	0.80722	D	1	P;P;P	0.42827	0.791;0.649;0.748	B;B;B	0.39876	0.312;0.249;0.246	T	0.55121	-0.8190	10	0.72032	D	0.01	-12.9631	18.8209	0.92097	0.0:0.0:1.0:0.0	.	255;250;255	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	255;255;250	ENSP00000385143:W255L;ENSP00000412652:W255L;ENSP00000394303:W250L	ENSP00000385143:W255L	W	+	2	0	UNC5D	35661654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.520000	0.84964	0.655000	0.94253	TGG	UNC5D	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.532	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35542112	1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35542112	G	T	35542112	3	4	77	1	0	0	0	0	1	0	0	0	17026	1357	47	4	786	4	UNC5D	8	35542112	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		35542112	110821910	61	12072										
PTDSS1	9791	genome.wustl.edu	37	chr8	97311943	97311943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tcttcttcatgcatctcctcCccaattttgccgagtgctgg	7	14	4	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:97311943C>T	ENST00000517309.1	+	6	948	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	PTDSS1_ENST00000455950.2_Missense_Mutation_p.P62S|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Missense_Mutation_p.P5S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	208					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GCATCTCCTCCCCAATTTTGC	0.463																																																	0													215	194	201					8																	97311943		2203	4300	6503	SO:0001583	missense	9791			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.622C>T	8.37:g.97311943C>T	ENSP00000430548:p.Pro208Ser		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.P208S	ENST00000517309.1	37	c.622	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.223217	0.95139	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.61392	0.11;0.28;0.26	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87646	0.2525	10	0.87932	D	0	-19.5083	17.8705	0.88810	0.0:1.0:0.0:0.0	.	208	P48651	PTSS1_HUMAN	S	208;62;5	ENSP00000430548:P208S;ENSP00000401248:P62S;ENSP00000430928:P5S	ENSP00000401248:P62S	P	+	1	0	PTDSS1	97381119	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.648000	0.89879	0.650000	0.86243	CCC	PTDSS1	-	pfam_PSS		0.463	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	C			97311943	1	no_errors	ENST00000517309	ensembl	human	known	70_37	missense	SNP	1.000	T	T	97311943	C	T	97311943	3	4	77	1	0	0	0	0	1	0	0	0	12763	623	22	4	644	4	PTDSS1	8	97311943	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	61769831	97311943	49052079	62	12073										
STK3	6788	genome.wustl.edu	37	chr8	99719434	99719434	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atgtccttctgtattgaggaGaatatttccagcttttatat	7	6	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:99719434G>A	ENST00000419617.2	-	5	597	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	STK3_ENST00000523601.1_Missense_Mutation_p.L181F	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTATTGAGGAGAATATTTCCA	0.323																																																	0													64	61	62					8																	99719434		1820	4110	5930	SO:0001583	missense	6788			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.457C>T	8.37:g.99719434G>A	ENSP00000390500:p.Leu153Phe		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom	p.L153F	ENST00000419617.2	37	c.457	CCDS47900.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295800	0.81025	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.34472	1.36;1.36	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65463	-0.6162	10	0.87932	D	0	.	18.9913	0.92793	0.0:0.0:1.0:0.0	.	153;181	Q13188;B3KYA7	STK3_HUMAN;.	F	153;181	ENSP00000390500:L153F;ENSP00000429744:L181F	ENSP00000390500:L153F	L	-	1	0	STK3	99788610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.640000	0.74319	2.493000	0.84123	0.561000	0.74099	CTC	STK3	-	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		0.323	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	HGNC	protein_coding	OTTHUMT00000379635.1	G	NM_006281		99719434	-1	no_errors	ENST00000419617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99719434	G	A	99719434	3	1	77	1	0	0	0	0	1	0	0	0	15325	942	33	1	1046	1	STK3	8	99719434	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	2407491	99719434	46644588	63	12074										
UBR5	51366	genome.wustl.edu	37	chr8	103359135	103359135	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tctacgagatccatacctgtGaaatcagctcctctggaatg	8	11	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:103359135G>A	ENST00000520539.1	-	6	1178	c.572C>T	c.(571-573)tCa>tTa	p.S191L	UBR5_ENST00000521922.1_Missense_Mutation_p.S191L|UBR5_ENST00000220959.4_Missense_Mutation_p.S191L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	191					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCATACCTGTGAAATCAGCTC	0.478																																					Ovarian(131;96 1741 5634 7352 27489)												0													72	78	76					8																	103359135		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.572C>T	8.37:g.103359135G>A	ENSP00000429084:p.Ser191Leu		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.S191L	ENST00000520539.1	37	c.572	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566115	0.86439	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47177	0.85;0.85;0.85	5.43	5.43	0.79202	E3 ubiquitin ligase EDD, ubiquitin-associated domain (1);	0.070540	0.56097	D	0.000024	T	0.40145	0.1105	N	0.19112	0.55	0.80722	D	1	B;B	0.27882	0.192;0.192	B;B	0.30943	0.122;0.122	T	0.35301	-0.9794	10	0.72032	D	0.01	.	19.6166	0.95636	0.0:0.0:1.0:0.0	.	191;191	E7EMW7;O95071	.;UBR5_HUMAN	L	191	ENSP00000429084:S191L;ENSP00000220959:S191L;ENSP00000427819:S191L	ENSP00000220959:S191L	S	-	2	0	UBR5	103428311	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.721000	0.93114	0.655000	0.94253	TCA	UBR5	-	pfam_E3_UbLigase_EDD_UBA		0.478	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103359135	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103359135	G	A	103359135	3	1	77	1	0	0	0	0	1	0	0	0	16936	1294	45	1	8043	1	UBR5	8	103359135	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	3639701	103359135	43004887	64	12075										
RAD21	5885	genome.wustl.edu	37	chr8	117875458	117875458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgtgatagattcgaactactCccagtaagagatgtcctgat	9	8	0	4			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:117875458C>T	ENST00000297338.2	-	3	472	c.185G>A	c.(184-186)gGa>gAa	p.G62E	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	62					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCGAACTACTCCCAGTAAGAG	0.373																																																	0													157	150	153					8																	117875458		2203	4300	6503	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.185G>A	8.37:g.117875458C>T	ENSP00000297338:p.Gly62Glu		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.G62E	ENST00000297338.2	37	c.185	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.179202	0.94846	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.51	5.51	0.81932	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96385	0.9284	10	0.87932	D	0	-7.3566	19.4192	0.94713	0.0:1.0:0.0:0.0	.	62	O60216	RAD21_HUMAN	E	62	ENSP00000297338:G62E;ENSP00000429342:G62E;ENSP00000427923:G62E;ENSP00000430524:G62E;ENSP00000428158:G62E	ENSP00000297338:G62E	G	-	2	0	RAD21	117944639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.586000	0.87340	0.650000	0.86243	GGA	RAD21	-	pfam_Rad21_Rec8_N		0.373	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117875458	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117875458	C	T	117875458	3	4	77	1	0	0	0	0	1	0	0	0	13011	855	30	1	1758	1	RAD21	8	117875458	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	14516323	117875458	28488564	65	12076										
FAM83A	84985	genome.wustl.edu	37	chr8	124219598	124219598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cttagcagcagcagtggctcCgccagtgaccgcacgtcctc	11	16	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:124219598C>T	ENST00000518448.1	+	5	2989	c.975C>T	c.(973-975)tcC>tcT	p.S325S	FAM83A_ENST00000318462.6_Silent_p.S325S|FAM83A_ENST00000536633.1_Silent_p.S325S|FAM83A_ENST00000546351.1_Silent_p.S269S|FAM83A_ENST00000276699.6_Silent_p.S325S|FAM83A_ENST00000522648.1_Silent_p.S269S			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	325	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGTGGCTCCGCCAGTGACC	0.721																																																	0													13	15	14					8																	124219598		2192	4288	6480	SO:0001819	synonymous_variant	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.975C>T	8.37:g.124219598C>T			Q71HL2|Q8N7I1|Q96I47	Silent	SNP	pfam_DUF1669	p.S325	ENST00000518448.1	37	c.975	CCDS6340.1	8																																																																																			FAM83A	-	NULL		0.721	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	HGNC	protein_coding	OTTHUMT00000381737.1	C	NM_032899		124219598	1	no_errors	ENST00000318462	ensembl	human	known	70_37	silent	SNP	0.000	T	T	124219598	C	T	124219598	2	4	77	1	0	0	0	0	0	0	0	1	5651	639	23	2		2	FAM83A	8	124219598	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	6344140	124219598	22144424	66	12077										
TG	7038	genome.wustl.edu	37	chr8	133919127	133919127	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gctgggagtcacagctgcctCagccccgggcctgccaacgt	13	16	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:133919127C>T	ENST00000220616.4	+	17	3869	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1277*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1277					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACAGCTGCCTCAGCCCCGGGC	0.642																																																	0													27	23	24					8																	133919127		2202	4300	6502	SO:0001587	stop_gained	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3829C>T	8.37:g.133919127C>T	ENSP00000220616:p.Gln1277*		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Q1277*	ENST00000220616.4	37	c.3829	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.328804	0.97480	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.42	4.53	0.55603	.	0.576620	0.15635	N	0.252194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5089	0.44849	0.0:0.9096:0.0:0.0904	.	.	.	.	X	1277;83;1277	.	ENSP00000220616:Q1277X	Q	+	1	0	TG	133988309	0.158000	0.22850	0.326000	0.25389	0.079000	0.17450	4.930000	0.63462	1.256000	0.44068	0.609000	0.83330	CAG	TG	-	pirsf_Thyroglobulin		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	C	NM_003235		133919127	1	no_errors	ENST00000220616	ensembl	human	known	70_37	nonsense	SNP	0.799	T	T	133919127	C	T	133919127	4	4	77	1	0	0	0	0	0	1	0	0	15843	827	29	1	3895	1	TG	8	133919127	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	9699529	133919127	12444895	67	12078										
PLEC	5339	genome.wustl.edu	37	chr8	144994596	144994596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agctgggcgtccaacaggcgCaggccctgctcccggggaat	15	14	0	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:144994596C>T	ENST00000322810.4	-	32	9973	c.9804G>A	c.(9802-9804)ctG>ctA	p.L3268L	PLEC_ENST00000357649.2_Silent_p.L3135L|PLEC_ENST00000436759.2_Silent_p.L3158L|PLEC_ENST00000356346.3_Silent_p.L3117L|PLEC_ENST00000527096.1_Silent_p.L3154L|PLEC_ENST00000345136.3_Silent_p.L3131L|PLEC_ENST00000398774.2_Silent_p.L3099L|PLEC_ENST00000354589.3_Silent_p.L3131L|PLEC_ENST00000354958.2_Silent_p.L3109L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3268	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAACAGGCGCAGGCCCTGCT	0.687																																																	0													13	17	16					8																	144994596		2011	4157	6168	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9804G>A	8.37:g.144994596C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L3268	ENST00000322810.4	37	c.9804	CCDS43772.1	8																																																																																			PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144994596	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.982	T	T	144994596	C	T	144994596	2	4	77	1	0	0	0	0	0	0	0	1	12076	697	25	4		4	PLEC	8	144994596	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	11075469	144994596	1369426	68	12079			1	48		4	4	3834	C		9.705899e-07
PLEC	5339	genome.wustl.edu	37	chr8	144996767	144996767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctcccgcaggcgctcggcatCatggtcactctgctgtcgct	11	16	3	0	rs371885759		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:144996767C>G	ENST00000322810.4	-	31	7910	c.7741G>C	c.(7741-7743)Gat>Cat	p.D2581H	PLEC_ENST00000357649.2_Missense_Mutation_p.D2448H|PLEC_ENST00000436759.2_Missense_Mutation_p.D2471H|PLEC_ENST00000356346.3_Missense_Mutation_p.D2430H|PLEC_ENST00000527096.1_Missense_Mutation_p.D2467H|PLEC_ENST00000345136.3_Missense_Mutation_p.D2444H|PLEC_ENST00000398774.2_Missense_Mutation_p.D2412H|PLEC_ENST00000354589.3_Missense_Mutation_p.D2444H|PLEC_ENST00000354958.2_Missense_Mutation_p.D2422H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2581	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCGGCATCATGGTCACTC	0.622																																																	0													41	45	44					8																	144996767		2177	4269	6446	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7741G>C	8.37:g.144996767C>G	ENSP00000323856:p.Asp2581His		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.D2581H	ENST00000322810.4	37	c.7741	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753866	0.31046	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76839	-1.01;-1.01;-1.05;-1.04;-1.03;-1.01;-1.01;-1.01;-1.01	4.56	4.56	0.56223	.	0.080489	0.47852	U	0.000207	T	0.79598	0.4473	N	0.22421	0.69	0.52501	D	0.999953	D;D;D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.995;0.997;0.997;0.997;0.997	D;D;D;P;D;D;D;D	0.63192	0.912;0.912;0.912;0.819;0.912;0.912;0.912;0.912	T	0.82108	-0.0620	10	0.54805	T	0.06	.	17.0989	0.86644	0.0:1.0:0.0:0.0	.	2471;2430;2422;2581;2412;2444;2448;2444	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	2444;2448;2444;2412;2581;2422;2430;2471;2467	ENSP00000344848:D2444H;ENSP00000350277:D2448H;ENSP00000346602:D2444H;ENSP00000381756:D2412H;ENSP00000323856:D2581H;ENSP00000347044:D2422H;ENSP00000348702:D2430H;ENSP00000388180:D2471H;ENSP00000434583:D2467H	ENSP00000323856:D2581H	D	-	1	0	PLEC	145068755	1.000000	0.71417	0.703000	0.30354	0.179000	0.23085	4.668000	0.61568	2.379000	0.81126	0.549000	0.68633	GAT	PLEC	-	NULL		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996767	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144996767	C	G	144996767	3	3	77	1	0	0	0	0	1	0	0	0	12076	826	29	1	6321	1	PLEC	8	144996767	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	2171	144996767	1367255	69	12080			1	48		4	4	3834	C		9.705899e-07
PLEC	5339	genome.wustl.edu	37	chr8	144997377	144997377	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atgcgtgccttgagcttgctCagctcctccatctgcacgcg	10	15	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:144997377C>T	ENST00000322810.4	-	31	7300	c.7131G>A	c.(7129-7131)ctG>ctA	p.L2377L	PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000345136.3_Silent_p.L2240L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000354958.2_Silent_p.L2218L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2377	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAGCTTGCTCAGCTCCTCCA	0.637																																																	0													27	28	27					8																	144997377		2192	4289	6481	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7131G>A	8.37:g.144997377C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L2377	ENST00000322810.4	37	c.7131	CCDS43772.1	8																																																																																			PLEC	-	superfamily_Chorismate_mutase_type_II		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997377	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.900	T	T	144997377	C	T	144997377	2	4	77	1	0	0	0	0	0	0	0	1	12076	813	29	1		1	PLEC	8	144997377	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	610	144997377	1366645	70	12081			1	48		4	4	3834	C		9.705899e-07
PLEC	5339	genome.wustl.edu	37	chr8	144998429	144998429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggccaggcgctcctcgatgtCagccttgtgttgcgcggcct	14	14	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr8:144998429C>T	ENST00000322810.4	-	31	6248	c.6079G>A	c.(6079-6081)Gac>Aac	p.D2027N	PLEC_ENST00000357649.2_Missense_Mutation_p.D1894N|PLEC_ENST00000436759.2_Missense_Mutation_p.D1917N|PLEC_ENST00000356346.3_Missense_Mutation_p.D1876N|PLEC_ENST00000527096.1_Missense_Mutation_p.D1913N|PLEC_ENST00000345136.3_Missense_Mutation_p.D1890N|PLEC_ENST00000398774.2_Missense_Mutation_p.D1858N|PLEC_ENST00000354589.3_Missense_Mutation_p.D1890N|PLEC_ENST00000354958.2_Missense_Mutation_p.D1868N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2027	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTCGATGTCAGCCTTGTGT	0.711																																																	0													11	13	12					8																	144998429		2130	4211	6341	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6079G>A	8.37:g.144998429C>T	ENSP00000323856:p.Asp2027Asn		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.D2027N	ENST00000322810.4	37	c.6079	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426968	0.43122	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.28	4.28	0.50868	.	0.276676	0.27023	U	0.021305	D	0.90717	0.7087	N	0.17474	0.49	0.46416	D	0.999039	D;D;P;D;D;D;D;D	0.76494	0.999;0.997;0.935;0.996;0.999;0.999;0.995;0.999	D;D;P;D;D;D;D;D	0.87578	0.997;0.993;0.889;0.985;0.997;0.997;0.991;0.998	D	0.90520	0.4488	10	0.34782	T	0.22	.	16.5144	0.84295	0.0:1.0:0.0:0.0	.	1917;1876;1868;2027;1858;1890;1894;1890	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	1890;1894;1890;1858;2027;1868;1876;1917;1913	ENSP00000344848:D1890N;ENSP00000350277:D1894N;ENSP00000346602:D1890N;ENSP00000381756:D1858N;ENSP00000323856:D2027N;ENSP00000347044:D1868N;ENSP00000348702:D1876N;ENSP00000388180:D1917N;ENSP00000434583:D1913N	ENSP00000323856:D2027N	D	-	1	0	PLEC	145070417	0.999000	0.42202	0.782000	0.31804	0.255000	0.26057	4.486000	0.60286	2.220000	0.72140	0.549000	0.68633	GAC	PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144998429	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144998429	C	T	144998429	3	4	77	1	0	0	0	0	1	0	0	0	12076	826	29	1	7983	1	PLEC	8	144998429	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	1052	144998429	1365593	71	12082			1	48		4	4	3834	C		9.705899e-07
KANK1	23189	genome.wustl.edu	37	chr9	710904	710904	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	caactagacttagatttcctCaaatatgtggatgacataca	6	8	1	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr9:710904C>G	ENST00000382303.1	+	7	790	c.138C>G	c.(136-138)ctC>ctG	p.L46L	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.L46L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	46	Nuclear export signal 1 (NES 1).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TAGATTTCCTCAAATATGTGG	0.468																																																	0													90	89	90					9																	710904		2203	4300	6503	SO:0001819	synonymous_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.138C>G	9.37:g.710904C>G			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L46	ENST00000382303.1	37	c.138	CCDS34976.1	9																																																																																			KANK1	-	pfam_KN_motif		0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	C	NM_015158		710904	1	no_errors	ENST00000382297	ensembl	human	known	70_37	silent	SNP	1.000	G	G	710904	C	G	710904	2	3	77	1	0	0	0	0	0	0	0	1	7996	813	29	1		1	KANK1	9	710904	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		710904	140502527	72	12083										
C9orf47	286223	genome.wustl.edu	37	chr9	91606129	91606129	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ccggcctgggaacaggggccGaagggcgagccggaccctag	18	13	0	0	rs542361091		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr9:91606129G>A	ENST00000334490.5	+	1	287	c.219G>A	c.(217-219)ccG>ccA	p.P73P	C9orf47_ENST00000375851.2_Intron|C9orf47_ENST00000375850.3_Intron|S1PR3_ENST00000358157.2_5'Flank			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	73						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						AACAGGGGCCGAAGGGCGAGC	0.706													g|||	1	0.000199681	0	0	5008	,	,		6922	0		0	False		,,,				2504	0.001																0													5	7	7					9																	91606129		2101	4152	6253	SO:0001819	synonymous_variant	286223			AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 108"	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.219G>A	9.37:g.91606129G>A			B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Silent	SNP	NULL	p.P73	ENST00000334490.5	37	c.219	CCDS35062.1	9																																																																																			C9orf47	-	NULL		0.706	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf47	HGNC	protein_coding	OTTHUMT00000355972.1	G	NM_182599		91606129	1	no_errors	ENST00000334490	ensembl	human	known	70_37	silent	SNP	0.000	A	A	91606129	G	A	91606129	2	1	77	1	0	0	0	0	0	0	0	1	2490	1045	37	1		1	C9orf47	9	91606129	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	90895225	91606129	49607302	73	12084										
FAM22F	54754	genome.wustl.edu	37	chr9	97082512	97082512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tggtgacaaagtcttcctggGaacacagcttgtcaatgtag	11	8	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr9:97082512G>A	ENST00000253262.4	-	5	1366	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	NUTM2F_ENST00000341207.4_Missense_Mutation_p.S434F|NUTM2F_ENST00000335456.7_Missense_Mutation_p.S434F	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	449																	GTCTTCCTGGGAACACAGCTT	0.567																																																	0													41	50	47					9																	97082512		1895	4106	6001	SO:0001583	missense	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1346C>T	9.37:g.97082512G>A	ENSP00000253262:p.Ser449Phe		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.S449F	ENST00000253262.4	37	c.1346	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	.	14.12	2.441524	0.43326	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207;ENST00000375347	T;T;T	0.37411	1.2;2.01;1.92	1.2	0.095	0.14483	Nuclear Testis protein, C-terminal (1);	0.378699	0.22866	N	0.054691	T	0.51075	0.1653	M	0.75615	2.305	0.27630	N	0.948058	D	0.76494	0.999	D	0.77004	0.989	T	0.40213	-0.9575	10	0.87932	D	0	.	4.8766	0.13658	0.0:0.3957:0.6043:0.0	.	449	A1L443	FA22F_HUMAN	F	434;449;434;283	ENSP00000335067:S434F;ENSP00000253262:S449F;ENSP00000343865:S434F	ENSP00000253262:S449F	S	-	2	0	FAM22F	96122333	0.582000	0.26749	0.765000	0.31456	0.361000	0.29550	0.868000	0.27982	0.045000	0.15804	0.456000	0.33151	TCC	FAM22F	-	NULL		0.567	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	G	NM_017561		97082512	-1	no_errors	ENST00000253262	ensembl	human	known	70_37	missense	SNP	0.818	A	A	97082512	G	A	97082512	3	1	77	1	0	0	0	0	1	0	0	0	5560	1174	41	1	936	1	FAM22F	9	97082512	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	5476383	97082512	44130919	74	12085										
NEK6	10783	genome.wustl.edu	37	chr9	127054795	127054795	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggaggccactggatgggattCtagatgctcgcctgggaccc	15	11	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr9:127054795C>G	ENST00000320246.5	+	2	116				NEK6_ENST00000539416.1_Missense_Mutation_p.S8C|NEK6_ENST00000540326.1_Intron|NEK6_ENST00000546191.1_Intron|NEK6_ENST00000545174.1_Intron|NEK6_ENST00000394199.2_Intron|NEK6_ENST00000373600.3_Intron|NEK6_ENST00000373603.1_Intron	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GGATGGGATTCTAGATGCTCG	0.572																																					NSCLC(122;934 1785 18647 44295 45571)												0													67	68	68					9																	127054795		692	1591	2283	SO:0001627	intron_variant	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.-29-9420C>G	9.37:g.127054795C>G			B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S8C	ENST00000320246.5	37	c.23	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	C	4.534	0.099209	0.08681	.	.	ENSG00000119408	ENST00000539416	T	0.72051	-0.62	2.37	-3.25	0.05079	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.54689	-0.8256	6	0.49607	T	0.09	.	4.3138	0.10982	0.3392:0.2275:0.4333:0.0	.	.	.	.	C	8	ENSP00000439651:S8C	ENSP00000439651:S8C	S	+	2	0	NEK6	126094616	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.766000	0.04725	-0.761000	0.04670	-1.302000	0.01329	TCT	NEK6	-	NULL		0.572	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	C	NM_014397		127054795	1	no_errors	ENST00000539416	ensembl	human	known	70_37	missense	SNP	0.000	G	G	127054795	C	G	127054795	1	3	77	0	1	0	0	0	0	0	0	0	10352	913	32	1		1	NEK6	9	127054795	Intron	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	29972283	127054795	14158636	75	12086										
OPTN	10133	genome.wustl.edu	37	chr10	13169814	13169814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	aactggcagagaaggctctgGcttccaaacagctgcaaatg	11	10	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr10:13169814G>T	ENST00000378748.3	+	13	1674	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S	OPTN_ENST00000378747.3_Missense_Mutation_p.A438S|OPTN_ENST00000378757.2_Missense_Mutation_p.A438S|OPTN_ENST00000378752.3_Missense_Mutation_p.A432S|OPTN_ENST00000263036.5_Missense_Mutation_p.A438S|OPTN_ENST00000378764.2_Missense_Mutation_p.A432S	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	438	Interaction with HD.|Interaction with MYO6.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAAGGCTCTGGCTTCCAAACA	0.468																																																	0													97	91	93					10																	13169814		2203	4300	6503	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1312G>T	10.37:g.13169814G>T	ENSP00000368022:p.Ala438Ser		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.A438S	ENST00000378748.3	37	c.1312	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035127	0.93575	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.996;0.997	D;P	0.66602	0.945;0.882	D	0.92393	0.5923	10	0.48119	T	0.1	-11.1466	18.5373	0.91015	0.0:0.0:1.0:0.0	.	432;438	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	S	438;432;438;432;438;438	ENSP00000263036:A438S;ENSP00000368040:A432S;ENSP00000368032:A438S;ENSP00000368027:A432S;ENSP00000368022:A438S;ENSP00000368021:A438S	ENSP00000263036:A438S	A	+	1	0	OPTN	13209820	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	8.413000	0.90235	2.670000	0.90874	0.462000	0.41574	GCT	OPTN	-	NULL		0.468	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	G	NM_021980		13169814	1	no_errors	ENST00000263036	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13169814	G	T	13169814	3	4	77	1	0	0	0	0	1	0	0	0	10913	1203	42	4	1350	4	OPTN	10	13169814	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		13169814	122364933	76	12087										
EPC1	80314	genome.wustl.edu	37	chr10	32561043	32561043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gttgttctgatgtcaccaaaGcagaagcagcaaactgtgca	10	9	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr10:32561043G>A	ENST00000263062.8	-	13	2254	c.1985C>T	c.(1984-1986)gCt>gTt	p.A662V	RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.A639V|EPC1_ENST00000375110.2_Missense_Mutation_p.A589V	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	662					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGTCACCAAAGCAGAAGCAGC	0.398																																																	0													73	64	67					10																	32561043		2203	4300	6503	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1985C>T	10.37:g.32561043G>A	ENSP00000263062:p.Ala662Val		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.A662V	ENST00000263062.8	37	c.1985	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.475929	0.96291	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.997;0.998;0.994	T	0.76623	-0.2891	9	0.56958	D	0.05	-12.3779	20.0754	0.97739	0.0:0.0:1.0:0.0	.	589;639;662	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	V	589;639;662	.	ENSP00000263062:A662V	A	-	2	0	EPC1	32601049	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	2.749000	0.94314	0.460000	0.39030	GCT	EPC1	-	pfam_Enhancer_polycomb_C		0.398	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	G			32561043	-1	no_errors	ENST00000263062	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32561043	G	A	32561043	3	1	77	1	0	0	0	0	1	0	0	0	5172	971	34	4	537	4	EPC1	10	32561043	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	19391229	32561043	102973704	77	12088										
TRPM5	29850	genome.wustl.edu	37	chr11	2439793	2439793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tcaccattgaccagcaagcaGaggacagggatctcgatgct	11	11	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:2439793G>A	ENST00000155858.6	-	5	686	c.678C>T	c.(676-678)ctC>ctT	p.L226L	TRPM5_ENST00000533060.1_Silent_p.L226L|TRPM5_ENST00000528453.1_Silent_p.L226L|TRPM5_ENST00000452833.1_Silent_p.L228L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAAGCAGAGGACAGGGA	0.662																																					NSCLC(1;49 61 17205 18850 43201)												0													48	42	44					11																	2439793		2198	4297	6495	SO:0001819	synonymous_variant	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.678C>T	11.37:g.2439793G>A				Silent	SNP	superfamily_Ankyrin_rpt-contain_dom	p.L228	ENST00000155858.6	37	c.684	CCDS31340.1	11																																																																																			TRPM5	-	NULL		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	G	NM_014555		2439793	-1	no_errors	ENST00000452833	ensembl	human	known	70_37	silent	SNP	0.835	A	A	2439793	G	A	2439793	2	1	77	1	0	0	0	0	0	0	0	1	16620	929	33	1		1	TRPM5	11	2439793	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		2439793	132566723	78	12089										
DNHD1	144132	genome.wustl.edu	37	chr11	6587071	6587071	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atgagcaggagaaagagcaaGaggaaaatgaagagaaagag	15	2	0	7			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:6587071G>C	ENST00000527990.2	+	31	10903	c.10903G>C	c.(10903-10905)Gag>Cag	p.E3635Q	DNHD1_ENST00000254579.6_Missense_Mutation_p.E3635Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3635					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		gaaagagcaagaggaaaatga	0.468																																																	0													156	177	170					11																	6587071		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10903G>C	11.37:g.6587071G>C	ENSP00000436180:p.Glu3635Gln		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.E3635Q	ENST00000527990.2	37	c.10903	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	9.707	1.155999	0.21454	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000529821	T;T	0.29397	1.57;1.57	5.04	-8.11	0.01082	.	.	.	.	.	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.32214	-0.9915	9	0.31617	T	0.26	.	8.6954	0.34293	0.6011:0.2029:0.196:0.0	.	3635	Q96M86	DNHD1_HUMAN	Q	3635;3635;216	ENSP00000254579:E3635Q;ENSP00000436180:E3635Q	ENSP00000254579:E3635Q	E	+	1	0	DNHD1	6543647	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.512000	0.06313	-1.744000	0.01338	0.655000	0.94253	GAG	DNHD1	-	NULL		0.468	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	G	NM_144666		6587071	1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.000	C	C	6587071	G	C	6587071	3	2	77	1	0	0	0	0	1	0	0	0	4678	943	33	1	11034	1	DNHD1	11	6587071	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	4147278	6587071	128419445	79	12090										
SPON1	10418	genome.wustl.edu	37	chr11	14282292	14282292	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tggagaagtgcatgctccctGaatgccgtaagtcctggagc	13	10	0	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:14282292G>A	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							CATGCTCCCTGAATGCCGTAA	0.557																																																	0													78	81	80					11																	14282292		2038	4192	6230			10418																															11.37:g.14282292G>A				RNA	SNP	-	NULL	ENST00000534587.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158119	0.78114	.	.	ENSG00000152268	ENST00000310358	.	.	.	4.57	4.57	0.56435	.	0.056340	0.64402	D	0.000001	T	0.62624	0.2443	.	.	.	0.52099	D	0.999946	P	0.52463	0.953	P	0.57679	0.825	T	0.60999	-0.7151	7	0.15066	T	0.55	.	14.9279	0.70893	0.0:0.0:1.0:0.0	.	664	Q9HCB6	SPON1_HUMAN	K	663	.	ENSP00000309297:E663K	E	+	1	0	SPON1	14238868	1.000000	0.71417	0.852000	0.33557	0.980000	0.70556	9.263000	0.95617	2.363000	0.80096	0.655000	0.94253	GAA	SPON1	-	-		0.557	RP11-21L19.1-001	KNOWN	basic	antisense	SPON1	HGNC	antisense	OTTHUMT00000386031.1	G			14282292	1	no_errors	ENST00000310358	ensembl	human	known	70_37	rna	SNP	0.998	A	A	14282292	G	A	14282292	1	1	77	0	1	0	0	0	0	0	0	0	15112	1291	45	1		1	SPON1	11	14282292	RNA	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	7695221	14282292	120724224	80	12091										
EIF3M	10480	genome.wustl.edu	37	chr11	32610234	32610234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gaaagcctatgtgaaaagctGgtcaaatttcgcgaaggtga	12	6	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:32610234G>A	ENST00000531120.1	+	3	333	c.270G>A	c.(268-270)ctG>ctA	p.L90L	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GTGAAAAGCTGGTCAAATTTC	0.413																																																	0													191	175	180					11																	32610234		2202	4299	6501	SO:0001819	synonymous_variant	10480			AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.270G>A	11.37:g.32610234G>A				Silent	SNP	pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom	p.L90	ENST00000531120.1	37	c.270	CCDS7880.1	11																																																																																			EIF3M	-	superfamily_ARM-type_fold		0.413	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3M	HGNC	protein_coding	OTTHUMT00000388762.2	G	NM_006360		32610234	1	no_errors	ENST00000531120	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32610234	G	A	32610234	2	1	77	1	0	0	0	0	0	0	0	1	5035	1335	47	4		4	EIF3M	11	32610234	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	18327942	32610234	102396282	81	12092										
CAPRIN1	4076	genome.wustl.edu	37	chr11	34101277	34101277	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgaggaagaagaggcagcctCagcacctgcagttgaagacc	13	10	1	5			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:34101277C>G	ENST00000341394.4	+	7	980	c.791C>G	c.(790-792)tCa>tGa	p.S264*	CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.S264*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.S264*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.S264*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.S183*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	264					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S264L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GAGGCAGCCTCAGCACCTGCA	0.428																																																	2	Substitution - Missense(2)	lung(2)											91	82	85					11																	34101277		2202	4298	6500	SO:0001587	stop_gained	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.791C>G	11.37:g.34101277C>G	ENSP00000340329:p.Ser264*		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Nonsense_Mutation	SNP	pfam_Caprin-1_C	p.S264*	ENST00000341394.4	37	c.791	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051530	0.75960	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	.	.	.	5.66	4.75	0.60458	.	0.567395	0.18763	N	0.131823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-6.0354	14.9068	0.70727	0.0:0.9313:0.0:0.0687	.	.	.	.	X	264;264;264;264;183	.	ENSP00000340329:S264X	S	+	2	0	CAPRIN1	34057853	0.981000	0.34729	0.977000	0.42913	0.031000	0.12232	3.198000	0.51035	1.537000	0.49254	-0.154000	0.13518	TCA	CAPRIN1	-	NULL		0.428	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	C	NM_005898		34101277	1	no_errors	ENST00000341394	ensembl	human	known	70_37	nonsense	SNP	0.993	G	G	34101277	C	G	34101277	4	3	77	1	0	0	0	0	0	1	0	0	2640	838	29	1	813	1	CAPRIN1	11	34101277	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	1491043	34101277	100905239	82	12093										
NUMA1	4926	genome.wustl.edu	37	chr11	71726075	71726075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggaacatggcgccatactgtGcctcctcttgctggctatcc	10	14	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:71726075G>A	ENST00000393695.3	-	15	2805	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	NUMA1_ENST00000358965.6_Missense_Mutation_p.A825V|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCCATACTGTGCCTCCTCTTG	0.582			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													106	103	104					11																	71726075		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2474C>T	11.37:g.71726075G>A	ENSP00000377298:p.Ala825Val			Missense_Mutation	SNP	superfamily_Prefoldin	p.A825V	ENST00000393695.3	37	c.2474	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921829	0.52653	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977	T;T;T	0.32023	2.7;2.7;1.47	5.91	5.0	0.66597	.	0.206543	0.34652	N	0.003794	T	0.23330	0.0564	L	0.33485	1.01	0.30958	N	0.723949	P;B;B;P	0.35575	0.51;0.25;0.068;0.51	B;B;B;B	0.36666	0.23;0.117;0.019;0.23	T	0.20672	-1.0268	10	0.40728	T	0.16	.	8.7617	0.34678	0.0751:0.0:0.773:0.1518	.	831;309;825;825	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	V	825;825;388;825	ENSP00000351851:A825V;ENSP00000377298:A825V;ENSP00000444880:A825V	ENSP00000351851:A825V	A	-	2	0	NUMA1	71403723	0.011000	0.17503	0.891000	0.34965	0.786000	0.44442	1.565000	0.36386	1.494000	0.48533	0.655000	0.94253	GCA	NUMA1	-	NULL		0.582	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	G			71726075	-1	no_errors	ENST00000393695	ensembl	human	known	70_37	missense	SNP	0.886	A	A	71726075	G	A	71726075	3	1	77	1	0	0	0	0	1	0	0	0	10774	1319	46	4	3925	4	NUMA1	11	71726075	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	37624798	71726075	63280441	83	12094										
FAT3	120114	genome.wustl.edu	37	chr11	92087080	92087080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tggtcacatcacagcagtctCagcgatcgatatcgatgaac	9	11	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:92087080C>T	ENST00000298047.6	+	1	1819	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	FAT3_ENST00000409404.2_Missense_Mutation_p.S601L|FAT3_ENST00000541502.1_Missense_Mutation_p.S601L|FAT3_ENST00000525166.1_Missense_Mutation_p.S451L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGCAGTCTCAGCGATCGAT	0.393										TCGA Ovarian(4;0.039)																																							0													57	59	58					11																	92087080		1878	4118	5996	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1802C>T	11.37:g.92087080C>T	ENSP00000298047:p.Ser601Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S601L	ENST00000298047.6	37	c.1802		11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950358	0.73787	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.74	5.74	0.90152	.	.	.	.	.	T	0.58637	0.2136	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54063	-0.8349	9	0.45353	T	0.12	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	601	Q8TDW7-3	.	L	601;601;601;451	ENSP00000298047:S601L;ENSP00000387040:S601L;ENSP00000443786:S601L;ENSP00000432586:S451L	ENSP00000298047:S601L	S	+	2	0	FAT3	91726728	1.000000	0.71417	0.966000	0.40874	0.883000	0.51084	7.755000	0.85180	2.709000	0.92574	0.591000	0.81541	TCA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92087080	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92087080	C	T	92087080	3	4	77	1	0	0	0	0	1	0	0	0	5709	838	29	1	1804	1	FAT3	11	92087080	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	20361005	92087080	42919436	84	12095										
RPS25	6230	genome.wustl.edu	37	chr11	118888132	118888132	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcctcgaatcttcagtctctCagagaccacagctggggtta	10	12	4	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr11:118888132C>T	ENST00000527673.1	-	3	628	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|MIR3656_ENST00000577421.1_RNA|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	75					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCAGTCTCTCAGAGACCACA	0.448																																																	0													37	39	38					11																	118888132		2200	4292	6492	SO:0001583	missense	6230			M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"S ribosomal proteins"	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.223G>A	11.37:g.118888132C>T	ENSP00000435096:p.Glu75Lys		B2R4M7|P25111	Missense_Mutation	SNP	pfam_Ribosomal_S25	p.E75K	ENST00000527673.1	37	c.223	CCDS8406.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.005153	0.97195	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.79	5.79	0.91817	.	0.046480	0.85682	D	0.000000	T	0.81908	0.4922	M	0.89095	3.005	0.80722	D	1	B	0.29341	0.242	B	0.39590	0.304	T	0.81931	-0.0707	9	0.72032	D	0.01	-17.4404	20.0281	0.97530	0.0:1.0:0.0:0.0	.	75	P62851	RS25_HUMAN	K	75	.	ENSP00000435096:E75K	E	-	1	0	RPS25	118393342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.723000	0.84788	2.727000	0.93392	0.655000	0.94253	GAG	RPS25	-	pfam_Ribosomal_S25		0.448	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS25	HGNC	protein_coding	OTTHUMT00000389324.1	C	NM_001028		118888132	-1	no_errors	ENST00000527673	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118888132	C	T	118888132	3	4	77	1	0	0	0	0	1	0	0	0	13666	835	29	1	162	1	RPS25	11	118888132	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	26801052	118888132	16118384	85	12096										
CACNA1C	775	genome.wustl.edu	37	chr12	2716295	2716295	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ccaccttcgaagggtggccaGagtgagtatgcaaagcaagg	14	9	0	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:2716295G>C	ENST00000347598.4	+	27	3415	c.3415G>C	c.(3415-3417)Gag>Cag	p.E1139Q	CACNA1C_ENST00000399634.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399637.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399644.1_Splice_Site_p.E1119Q|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399597.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000327702.7_Splice_Site_p.E1119Q|CACNA1C_ENST00000399629.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000335762.5_Splice_Site_p.E1144Q|CACNA1C_ENST00000399641.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399655.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399617.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399649.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399638.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399606.1_Splice_Site_p.E1139Q|CACNA1C_ENST00000402845.3_Splice_Site_p.E1119Q|CACNA1C_ENST00000480911.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399621.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000406454.3_Splice_Site_p.E1119Q|CACNA1C_ENST00000399595.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399603.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000344100.3_Splice_Site_p.E1119Q|CACNA1C_ENST00000399591.1_Splice_Site_p.E1119Q|CACNA1C_ENST00000399601.1_Splice_Site_p.E1119Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1139	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGTGGCCAGAGTGAGTATG	0.552																																																	0													35	37	36					12																	2716295		2170	4292	6462	SO:0001630	splice_region_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3416+1G>C	12.37:g.2716295G>C			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1119Q	ENST00000347598.4	37	c.3355	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510027	0.44660	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	4.87	4.87	0.63330	Ion transport (1);	0.104188	0.64402	D	0.000003	D	0.96134	0.8740	N	0.13003	0.285	0.43007	D	0.994539	D;D;B;D;D;D;P;B;B;D;P;B;P;D;D;P;B;D;B;P;D;D;B;P;D	0.71674	0.998;0.982;0.233;0.997;0.969;0.982;0.944;0.08;0.004;0.969;0.952;0.391;0.944;0.961;0.988;0.952;0.057;0.969;0.08;0.952;0.969;0.969;0.242;0.701;0.962	D;P;B;D;P;P;P;B;B;P;P;B;P;P;D;P;B;P;B;P;P;P;B;B;P	0.79784	0.993;0.641;0.06;0.993;0.79;0.79;0.833;0.036;0.037;0.79;0.542;0.32;0.833;0.672;0.957;0.636;0.022;0.718;0.036;0.636;0.79;0.718;0.033;0.445;0.708	D	0.93995	0.7270	10	0.14252	T	0.57	.	18.5538	0.91075	0.0:0.0:1.0:0.0	.	1119;1116;1139;1119;1119;1119;1119;1119;1119;1139;1119;1090;1139;1119;1119;1119;1119;1119;1119;1119;1119;1119;1119;1119;1119	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1144;1119;1119;1119;1119;1119;1119;1119;1119;1119;1139;1139;1119;1119;1119;1119;1119;1119;1119;1119;1119;1119;1119;960	ENSP00000336982:E1144Q;ENSP00000382563:E1119Q;ENSP00000437936:E1119Q;ENSP00000382552:E1119Q;ENSP00000382547:E1119Q;ENSP00000382506:E1119Q;ENSP00000382530:E1119Q;ENSP00000382546:E1119Q;ENSP00000382500:E1119Q;ENSP00000382549:E1119Q;ENSP00000266376:E1139Q;ENSP00000382515:E1139Q;ENSP00000382510:E1119Q;ENSP00000341092:E1119Q;ENSP00000382537:E1119Q;ENSP00000329877:E1119Q;ENSP00000382557:E1119Q;ENSP00000385724:E1119Q;ENSP00000382512:E1119Q;ENSP00000382542:E1119Q;ENSP00000382526:E1119Q;ENSP00000385896:E1119Q;ENSP00000382504:E1119Q	ENSP00000323129:E960Q	E	+	1	0	CACNA1C	2586556	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.122000	0.71608	2.691000	0.91804	0.655000	0.94253	GAG	CACNA1C	-	pfam_Ion_trans_dom		0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719	Missense_Mutation	2716295	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2716295	G	C	2716295	5	2	77	1	0	0	0	0	0	0	1	0	2545	956	33	1	3629	1	CACNA1C	12	2716295	Splice_Site	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		2716295	131135600	86	12097										
ACSM4	341392	genome.wustl.edu	37	chr12	7476146	7476146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	acggcccttctgtttcttctCtaaatatgtggtatgaggat	9	8	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:7476146C>T	ENST00000399422.4	+	9	1346	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	433					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TGTTTCTTCTCTAAATAtgtg	0.418																																																	0													62	59	60					12																	7476146		1833	4079	5912	SO:0001583	missense	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1298C>T	12.37:g.7476146C>T	ENSP00000382349:p.Ser433Phe		A8MTI6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S433F	ENST00000399422.4	37	c.1298	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294958	0.60086	.	.	ENSG00000215009	ENST00000399422	T	0.46063	0.88	3.6	3.6	0.41247	AMP-dependent synthetase/ligase (1);	0.000000	0.38436	U	0.001682	T	0.54759	0.1878	L	0.52126	1.63	0.36316	D	0.857943	D	0.67145	0.996	D	0.66084	0.941	T	0.65512	-0.6150	10	0.62326	D	0.03	-3.0588	13.1051	0.59244	0.0:1.0:0.0:0.0	.	433	P0C7M7	ACSM4_HUMAN	F	433	ENSP00000382349:S433F	ENSP00000382349:S433F	S	+	2	0	ACSM4	7367413	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.350000	0.59392	2.021000	0.59480	0.557000	0.71058	TCT	ACSM4	-	pfam_AMP-dep_Synth/Lig		0.418	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	C	NM_001080454		7476146	1	no_errors	ENST00000399422	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	7476146	C	T	7476146	3	4	77	1	0	0	0	0	1	0	0	0	186	913	32	1	1332	1	ACSM4	12	7476146	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	4759851	7476146	126375749	87	12098										
CLEC4D	338339	genome.wustl.edu	37	chr12	8672931	8672931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ccagacgccatttaacccacGcagagtgtaagtatattgag	9	10	0	3	rs201112913	byFrequency	TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:8672931G>A	ENST00000299665.2	+	5	687	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R165H(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTAACCCACGCAGAGTGTAA	0.418																																																	1	Substitution - Missense(1)	urinary_tract(1)						G	HIS/ARG	0,4406		0,0,2203	79	80	80		494	-0.9	0	12		80	3,8595	3.0+/-9.4	0,3,4296	no	missense	CLEC4D	NM_080387.4	29	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	benign	165/216	8672931	3,13001	2203	4299	6502	SO:0001583	missense	338339			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.494G>A	12.37:g.8672931G>A	ENSP00000299665:p.Arg165His		Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R165H	ENST00000299665.2	37	c.494	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787974	0.02884	0.0	3.49E-4	ENSG00000166527	ENST00000299665	T	0.17370	2.28	4.67	-0.857	0.10693	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.05593	0.0147	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42582	-0.9443	8	.	.	.	.	3.9592	0.09403	0.4108:0.3734:0.2158:0.0	.	165	Q8WXI8	CLC4D_HUMAN	H	165	ENSP00000299665:R165H	.	R	+	2	0	CLEC4D	8564198	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.620000	0.05565	0.039000	0.15632	-0.323000	0.08544	CGC	CLEC4D	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.418	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1	G	NM_080387		8672931	1	no_errors	ENST00000299665	ensembl	human	known	70_37	missense	SNP	0.000	A	A	8672931	G	A	8672931	3	1	77	1	0	0	0	0	1	0	0	0	3519	1087	38	2	512	2	CLEC4D	12	8672931	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	1196785	8672931	125178964	88	12099										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43840503	43840503	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	actggagtttaacacgtgatCacaaccagctgccttcaaga	8	11	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:43840503C>T	ENST00000389420.3	-	15	2091	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D698N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	698	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACACGTGATCACAACCAGCT	0.378																																																	0													164	139	148					12																	43840503		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2092G>A	12.37:g.43840503C>T	ENSP00000374071:p.Asp698Asn		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D698N	ENST00000389420.3	37	c.2092	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843255	0.91197	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.73575	-0.76;-0.76	5.07	5.07	0.68467	.	0.000000	0.52532	D	0.000062	D	0.89336	0.6686	M	0.91717	3.235	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.91325	0.5085	10	0.87932	D	0	.	19.3353	0.94314	0.0:1.0:0.0:0.0	.	698	P59510	ATS20_HUMAN	N	698	ENSP00000374071:D698N;ENSP00000448341:D698N	ENSP00000374068:D698N	D	-	1	0	ADAMTS20	42126770	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.445000	0.80570	2.750000	0.94351	0.563000	0.77884	GAT	ADAMTS20	-	prints_Peptidase_M12B_ADAM-TS		0.378	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43840503	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43840503	C	T	43840503	3	4	77	1	0	0	0	0	1	0	0	0	266	826	29	1	3739	1	ADAMTS20	12	43840503	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	35167572	43840503	90011392	89	12100										
MBD6	114785	genome.wustl.edu	37	chr12	57919663	57919663	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cccctggtcctggggcccctGggaggggcccccacggtgga	17	16	0	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:57919663G>C	ENST00000355673.3	+	6	1268	c.912G>C	c.(910-912)ctG>ctC	p.L304L	MBD6_ENST00000431731.2_Silent_p.L304L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	304	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGCCCCTGGGAGGGGCCC	0.692																																																	0													21	28	26					12																	57919663		2153	4264	6417	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.912G>C	12.37:g.57919663G>C			Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L304	ENST00000355673.3	37	c.912	CCDS8944.1	12																																																																																			MBD6	-	NULL		0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919663	1	no_errors	ENST00000355673	ensembl	human	known	70_37	silent	SNP	0.987	C	C	57919663	G	C	57919663	2	2	77	1	0	0	0	0	0	0	0	1	9371	1335	47	4		4	MBD6	12	57919663	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	14079160	57919663	75932232	90	12101										
FRS2	10818	genome.wustl.edu	37	chr12	69968293	69968293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcctcctgtttgggaagcccGcaagctaagtagggatgaag	14	9	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:69968293G>A	ENST00000550389.1	+	7	1331	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	FRS2_ENST00000397997.2_Missense_Mutation_p.R362H|FRS2_ENST00000549921.1_Missense_Mutation_p.R362H|FRS2_ENST00000299293.2_Missense_Mutation_p.R362H	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	362					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGGAAGCCCGCAAGCTAAGT	0.388																																																	0													72	68	70					12																	69968293		1866	4112	5978	SO:0001583	missense	10818			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1085G>A	12.37:g.69968293G>A	ENSP00000447241:p.Arg362His		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R362H	ENST00000550389.1	37	c.1085	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644672	0.29246	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	6.14	4.01	0.46588	.	0.314649	0.34628	N	0.003814	T	0.18718	0.0449	L	0.29908	0.895	0.43555	D	0.995869	B	0.02656	0.0	B	0.04013	0.001	T	0.04607	-1.0939	9	.	.	.	-2.4463	14.0138	0.64513	0.1414:0.0:0.8586:0.0	.	362	Q8WU20	FRS2_HUMAN	H	362	ENSP00000299293:R362H;ENSP00000450048:R362H;ENSP00000447241:R362H;ENSP00000381083:R362H	.	R	+	2	0	FRS2	68254560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.311000	0.51919	1.612000	0.50221	0.650000	0.86243	CGC	FRS2	-	NULL		0.388	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	HGNC	protein_coding	OTTHUMT00000403760.1	G	NM_006654		69968293	1	no_errors	ENST00000299293	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69968293	G	A	69968293	3	1	77	1	0	0	0	0	1	0	0	0	6079	1087	38	2	1103	2	FRS2	12	69968293	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	12048630	69968293	63883602	91	12102										
PHLDA1	22822	genome.wustl.edu	37	chr12	76424550	76424550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggctggggttgcggctgaggCtgaggctggggttggggctg	24	6	0	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:76424550C>T	ENST00000266671.5	-	1	3162	c.972G>A	c.(970-972)caG>caA	p.Q324Q	PHLDA1_ENST00000602540.1_Silent_p.Q183Q|RP11-290L1.2_ENST00000547721.1_RNA|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	324	15 X 2 AA repeats of P-Q.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gcggctgaggctgaggctggg	0.682																																																	0													35	27	30					12																	76424550		2109	4148	6257	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.972G>A	12.37:g.76424550C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	smart_Pleckstrin_homology	p.Q324	ENST00000266671.5	37	c.972	CCDS31861.1	12																																																																																			PHLDA1	-	NULL		0.682	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	HGNC	protein_coding	OTTHUMT00000405846.2	C	NM_007350		76424550	-1	no_errors	ENST00000266671	ensembl	human	known	70_37	silent	SNP	0.992	T	T	76424550	C	T	76424550	2	4	77	1	0	0	0	0	0	0	0	1	11872	796	28	4		4	PHLDA1	12	76424550	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	6456257	76424550	57427345	92	12103										
LRRIQ1	84125	genome.wustl.edu	37	chr12	85517847	85517847	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tctcatcatttatttgttcaGagatgtatttaccttggata	6	6	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr12:85517847G>C	ENST00000393217.2	+	17	3618		c.e17-1			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATTTGTTCAGAGATGTATTT	0.318																																																	0													36	38	37					12																	85517847		2203	4300	6503	SO:0001630	splice_region_variant	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3558-1G>C	12.37:g.85517847G>C			Q567P4|Q9BS17|Q9HA36	Splice_Site	SNP	-	e16-1	ENST00000393217.2	37	c.3558-1	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284489	0.23392	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.28	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3927	0.66991	0.0:0.1474:0.8526:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRIQ1	84041978	1.000000	0.71417	0.167000	0.22817	0.274000	0.26718	6.480000	0.73604	1.219000	0.43474	0.585000	0.79938	.	LRRIQ1	-	-		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	G	NM_032165	Intron	85517847	1	no_errors	ENST00000393217	ensembl	human	known	70_37	splice_site	SNP	0.866	C	C	85517847	G	C	85517847	5	2	77	1	0	0	0	0	0	0	1	0	9052	956	33	1	3619	1	LRRIQ1	12	85517847	Splice_Site	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	9093297	85517847	48334048	93	12104										
USPL1	10208	genome.wustl.edu	37	chr13	31221109	31221109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cctttacaaatgtcatccctGagtggcacccacttaatgct	6	13	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr13:31221109G>A	ENST00000255304.4	+	7	1495	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	385	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TGTCATCCCTGAGTGGCACCC	0.318																																					Ovarian(60;318 1180 1554 28110 31601)												0													111	107	108					13																	31221109		2203	4300	6503	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1153G>A	13.37:g.31221109G>A	ENSP00000255304:p.Glu385Lys		Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.E385K	ENST00000255304.4	37	c.1153	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374943	0.61735	.	.	ENSG00000132952	ENST00000255304	T	0.52295	0.67	5.56	3.83	0.44106	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.183939	0.56097	N	0.000023	T	0.43456	0.1248	M	0.72118	2.19	0.33881	D	0.636154	P	0.35628	0.513	B	0.29524	0.103	T	0.59611	-0.7422	10	0.72032	D	0.01	-9.1337	10.1475	0.42774	0.1556:0.0:0.8444:0.0	.	385	Q5W0Q7	USPL1_HUMAN	K	385	ENSP00000255304:E385K	ENSP00000255304:E385K	E	+	1	0	USPL1	30119109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.392000	0.52537	0.827000	0.34685	0.650000	0.86243	GAG	USPL1	-	pfscan_Peptidase_C19		0.318	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31221109	1	no_errors	ENST00000255304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31221109	G	A	31221109	3	1	77	1	0	0	0	0	1	0	0	0	17123	1291	45	1	1175	1	USPL1	13	31221109	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		31221109	83948769	94	12105										
SIAH3	283514	genome.wustl.edu	37	chr13	46357699	46357699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tggcctcccacttgaggcgcCgatggtttctgttgagctcc	12	13	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr13:46357699C>T	ENST00000400405.2	-	2	735	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	210					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CTTGAGGCGCCGATGGTTTCT	0.617																																																	0													44	51	49					13																	46357699		1989	4142	6131	SO:0001583	missense	283514				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.629G>A	13.37:g.46357699C>T	ENSP00000383256:p.Arg210Gln		B7ZBP0|Q8N8M6	Missense_Mutation	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like	p.R210Q	ENST00000400405.2	37	c.629	CCDS41883.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.330775	0.95733	.	.	ENSG00000215475	ENST00000400405	T	0.26660	1.72	5.07	5.07	0.68467	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.54046	0.1834	M	0.77616	2.38	0.43010	D	0.994541	D	0.89917	1.0	D	0.85130	0.997	T	0.60495	-0.7252	10	0.87932	D	0	-14.3027	17.4324	0.87543	0.0:1.0:0.0:0.0	.	210	Q8IW03	SIAH3_HUMAN	Q	210	ENSP00000383256:R210Q	ENSP00000383256:R210Q	R	-	2	0	SIAH3	45255700	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	7.703000	0.84585	2.369000	0.80426	0.561000	0.74099	CGG	SIAH3	-	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAH3	HGNC	protein_coding	OTTHUMT00000044788.2	C	NM_198849		46357699	-1	no_errors	ENST00000400405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46357699	C	T	46357699	3	4	77	1	0	0	0	0	1	0	0	0	14331	652	23	2	184	2	SIAH3	13	46357699	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	15136590	46357699	68812179	95	12106										
ITM2B	9445	genome.wustl.edu	37	chr13	48830439	48830439	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atattaaaatctttgaagaaGaagaagttgaatttatcagt	7	2	2	5			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr13:48830439G>A	ENST00000378565.5	+	3	576	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	125	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTTGAAGAAGAAGAAGTTGA	0.398																																																	0													89	89	89					13																	48830439		2203	4300	6503	SO:0001583	missense	9445			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.373G>A	13.37:g.48830439G>A	ENSP00000367828:p.Glu125Lys		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E125K	ENST00000378565.5	37	c.373	CCDS9409.1	13	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952373	0.73787	.	.	ENSG00000136156	ENST00000378565	T	0.35789	1.29	5.76	5.76	0.90799	.	0.240677	0.48286	D	0.000198	T	0.42108	0.1188	M	0.71036	2.16	0.80722	D	1	B	0.27853	0.191	B	0.23275	0.045	T	0.28490	-1.0042	10	0.48119	T	0.1	-15.9585	18.9522	0.92644	0.0:0.0:1.0:0.0	.	125	Q9Y287	ITM2B_HUMAN	K	125	ENSP00000367828:E125K	ENSP00000367828:E125K	E	+	1	0	ITM2B	47728440	1.000000	0.71417	0.971000	0.41717	0.832000	0.47134	8.956000	0.93066	2.721000	0.93114	0.650000	0.86243	GAA	ITM2B	-	NULL		0.398	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2B	HGNC	protein_coding	OTTHUMT00000044870.3	G	NM_021999		48830439	1	no_errors	ENST00000378565	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48830439	G	A	48830439	3	1	77	1	0	0	0	0	1	0	0	0	7933	943	33	1	383	1	ITM2B	13	48830439	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	2472740	48830439	66339439	96	12107										
MYH7	4625	genome.wustl.edu	37	chr14	23885517	23885517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgccctcctcgtgctccaggGaggcctgggaaggggttggg	18	11	0	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr14:23885517G>A	ENST00000355349.3	-	34	4811	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1550					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGCTCCAGGGAGGCCTGGGA	0.612																																																	0													64	67	66					14																	23885517		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4649C>T	14.37:g.23885517G>A	ENSP00000347507:p.Ser1550Phe		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1550F	ENST00000355349.3	37	c.4649	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008921	0.75046	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78816	-1.21	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.86481	0.5943	M	0.70903	2.155	0.58432	D	0.999999	P	0.42620	0.785	P	0.58454	0.839	D	0.87991	0.2749	9	0.87932	D	0	.	17.8682	0.88803	0.0:0.0:1.0:0.0	.	1550	P12883	MYH7_HUMAN	F	1550;1555	ENSP00000347507:S1550F	ENSP00000347507:S1550F	S	-	2	0	MYH7	22955357	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.026000	0.93700	2.537000	0.85549	0.655000	0.94253	TCC	MYH7	-	pfam_Myosin_tail		0.612	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	G	NM_000257		23885517	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23885517	G	A	23885517	3	1	77	1	0	0	0	0	1	0	0	0	10062	1174	41	1	1186	1	MYH7	14	23885517	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		23885517	83464023	97	12108										
IFI27L1	122509	genome.wustl.edu	37	chr14	94568898	94568898	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tcttggggcctggctgggttCacccccttccagctgaacac	11	15	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr14:94568898C>T	ENST00000555523.1	+	5	518	c.299C>T	c.(298-300)tCa>tTa	p.S100L	IFI27L1_ENST00000393115.3_Missense_Mutation_p.S100L|IFI27L1_ENST00000556381.1_3'UTR|IFI27L1_ENST00000557218.1_Missense_Mutation_p.S46L|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000553664.1_3'UTR|IFI27L1_ENST00000557066.1_Missense_Mutation_p.S46L|IFI27L1_ENST00000554544.1_Missense_Mutation_p.S35L|IFI27L1_ENST00000554562.1_3'UTR	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	100						integral component of membrane (GO:0016021)				lung(2)	2						TGGCTGGGTTCACCCCCTTCC	0.572																																																	0													57	56	57					14																	94568898		2203	4300	6503	SO:0001583	missense	122509			BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"family with sequence similarity 14, member B"	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.299C>T	14.37:g.94568898C>T	ENSP00000451851:p.Ser100Leu			Missense_Mutation	SNP	pfam_Interferon-induced_6-16	p.S100L	ENST00000555523.1	37	c.299	CCDS9919.1	14	.	.	.	.	.	.	.	.	.	.	c	8.009	0.757187	0.15846	.	.	ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000557218;ENST00000554544;ENST00000557066	T;T	0.35048	1.33;1.33	2.01	-4.03	0.04021	.	1.964930	0.04632	U	0.403751	T	0.18964	0.0455	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10683	-1.0619	10	0.66056	D	0.02	.	0.2435	0.00195	0.2579:0.2512:0.1492:0.3417	.	100	Q96BM0	I27L1_HUMAN	L	100;100;46;35;46	ENSP00000451851:S100L;ENSP00000376824:S100L	ENSP00000376824:S100L	S	+	2	0	IFI27L1	93638651	0.017000	0.18338	0.000000	0.03702	0.003000	0.03518	-0.564000	0.05936	-2.443000	0.00548	-0.359000	0.07587	TCA	IFI27L1	-	NULL		0.572	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI27L1	HGNC	protein_coding	OTTHUMT00000412868.1	C	NM_206949		94568898	1	no_errors	ENST00000393115	ensembl	human	known	70_37	missense	SNP	0.000	T	T	94568898	C	T	94568898	3	4	77	1	0	0	0	0	1	0	0	0	7533	838	29	1	313	1	IFI27L1	14	94568898	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	70683381	94568898	12780642	98	12109										
OR4N4	283694	genome.wustl.edu	37	chr15	22383378	22383378	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	acttccatgaagaggttattGagtcgacatgtagtctgtca	10	7	2	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr15:22383378G>C	ENST00000328795.4	+	1	997	c.906G>C	c.(904-906)ttG>ttC	p.L302F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAGGTTATTGAGTCGACATG	0.368																																																	0													60	57	58					15																	22383378		2184	4253	6437	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.906G>C	15.37:g.22383378G>C	ENSP00000332500:p.Leu302Phe		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L302F	ENST00000328795.4	37	c.906	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	0	-2.728073	0.00091	.	.	ENSG00000183706	ENST00000328795	T	0.42131	0.98	3.18	2.11	0.27256	.	0.781717	0.10925	N	0.619055	T	0.25419	0.0618	N	0.17901	0.54	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21552	-1.0242	10	0.26408	T	0.33	-0.3363	7.0706	0.25177	0.0:0.0:0.6143:0.3857	.	302	Q8N0Y3	OR4N4_HUMAN	F	302	ENSP00000332500:L302F	ENSP00000332500:L302F	L	+	3	2	OR4N4	19884742	0.000000	0.05858	0.484000	0.27391	0.148000	0.21650	-0.686000	0.05161	0.471000	0.27319	0.399000	0.26434	TTG	OR4N4	-	NULL		0.368	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	G			22383378	1	no_errors	ENST00000328795	ensembl	human	known	70_37	missense	SNP	0.134	C	C	22383378	G	C	22383378	3	2	77	1	0	0	0	0	1	0	0	0	11102	1281	45	1	908	1	OR4N4	15	22383378	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		22383378	80148014	99	12110										
C15orf2	23742	genome.wustl.edu	37	chr15	24921288	24921288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgccggctgtgggttgggggCtggccatcaggaagacaccc	17	11	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr15:24921288C>A	ENST00000329468.2	+	1	748	c.274C>A	c.(274-276)Ctg>Atg	p.L92M		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	92					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGGTTGGGGGCTGGCCATCAG	0.667																																																	0													22	21	21					15																	24921288		2191	4276	6467	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.274C>A	15.37:g.24921288C>A	ENSP00000333735:p.Leu92Met			Missense_Mutation	SNP	NULL	p.L92M	ENST00000329468.2	37	c.274	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	9.483	1.098779	0.20552	.	.	ENSG00000185823	ENST00000329468	T	0.05996	3.36	0.713	-0.929	0.10444	.	.	.	.	.	T	0.10121	0.0248	L	0.29908	0.895	0.09310	N	1	D	0.59767	0.986	D	0.63793	0.918	T	0.27191	-1.0081	8	0.45353	T	0.12	.	.	.	.	.	92	Q9NZP6	CO002_HUMAN	M	92	ENSP00000333735:L92M	ENSP00000333735:L92M	L	+	1	2	C15orf2	22472381	0.108000	0.22018	0.000000	0.03702	0.009000	0.06853	-0.155000	0.10115	-0.291000	0.09012	0.195000	0.17529	CTG	NPAP1	-	NULL		0.667	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24921288	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	A	A	24921288	C	A	24921288	3	1	77	1	0	0	0	0	1	0	0	0	1788	796	28	4	276	4	C15orf2	15	24921288	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	2537910	24921288	77610104	100	12111										
TJP1	7082	genome.wustl.edu	37	chr15	29997798	29997798	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cttgaaatagatttcctgctCaactccttcgggaatggctc	8	11	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr15:29997798C>G	ENST00000346128.6	-	26	5476	c.5002G>C	c.(5002-5004)Gag>Cag	p.E1668Q	TJP1_ENST00000356107.6_Missense_Mutation_p.E1668Q|TJP1_ENST00000545208.2_Missense_Mutation_p.E1588Q|TJP1_ENST00000400011.2_Missense_Mutation_p.E1592Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1668	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATTTCCTGCTCAACTCCTTCG	0.428																																					Melanoma(77;681 1843 6309 6570)												0													85	83	84					15																	29997798		1899	4129	6028	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.5002G>C	15.37:g.29997798C>G	ENSP00000281537:p.Glu1668Gln		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.E1668Q	ENST00000346128.6	37	c.5002	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347084	0.61183	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.44083	0.93;0.93	4.96	4.96	0.65561	ZU5 (3);	0.051515	0.85682	D	0.000000	T	0.39627	0.1085	N	0.01640	-0.785	0.80722	D	1	D;D;B;D	0.69078	0.992;0.973;0.075;0.997	D;P;B;D	0.81914	0.941;0.812;0.187;0.995	T	0.64659	-0.6355	10	0.72032	D	0.01	.	18.4059	0.90536	0.0:1.0:0.0:0.0	.	1661;1588;1668;1592	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Q	1668;1592;1668;1588;1588	ENSP00000281537:E1668Q;ENSP00000382890:E1592Q	ENSP00000281537:E1668Q	E	-	1	0	TJP1	27785090	1.000000	0.71417	0.800000	0.32199	0.997000	0.91878	7.651000	0.83577	2.585000	0.87301	0.655000	0.94253	GAG	TJP1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.428	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	C	NM_003257		29997798	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29997798	C	G	29997798	3	3	77	1	0	0	0	0	1	0	0	0	15959	835	29	1	256	1	TJP1	15	29997798	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	5076510	29997798	72533594	101	12112										
HCN4	10021	genome.wustl.edu	37	chr15	73614928	73614928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cagaagaggtggctcttgccCcaaacaaagacagagggggt	14	9	1	4			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr15:73614928C>T	ENST00000261917.3	-	8	4499	c.3506G>A	c.(3505-3507)gGg>gAg	p.G1169E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1169					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGCTCTTGCCCCAAACAAAGA	0.642																																																	0													23	24	24					15																	73614928		2197	4295	6492	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3506G>A	15.37:g.73614928C>T	ENSP00000261917:p.Gly1169Glu		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.G1169E	ENST00000261917.3	37	c.3506	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367192	0.24771	.	.	ENSG00000138622	ENST00000261917	D	0.99304	-5.72	3.4	3.4	0.38934	.	.	.	.	.	D	0.97170	0.9075	L	0.40543	1.245	0.32081	N	0.593082	B	0.13594	0.008	B	0.15484	0.013	D	0.99013	1.0815	9	0.38643	T	0.18	.	7.9067	0.29765	0.0:0.8797:0.0:0.1203	.	1169	Q9Y3Q4	HCN4_HUMAN	E	1169	ENSP00000261917:G1169E	ENSP00000261917:G1169E	G	-	2	0	HCN4	71401981	1.000000	0.71417	0.986000	0.45419	0.014000	0.08584	2.483000	0.45233	1.717000	0.51406	0.442000	0.29010	GGG	HCN4	-	NULL		0.642	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	C	NM_005477		73614928	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73614928	C	T	73614928	3	4	77	1	0	0	0	0	1	0	0	0	7019	623	22	4	109	4	HCN4	15	73614928	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	43617130	73614928	28916464	102	12113										
SCAPER	49855	genome.wustl.edu	37	chr15	77096936	77096936	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atccagtcaatcaatgctttGaaatctcttacatagttatc	4	9	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr15:77096936G>C	ENST00000563290.1	-	6	527	c.432C>G	c.(430-432)ttC>ttG	p.F144L	SCAPER_ENST00000324767.7_Missense_Mutation_p.F144L|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	144						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCAATGCTTTGAAATCTCTTA	0.358																																																	0													113	101	105					15																	77096936		1837	4074	5911	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.432C>G	15.37:g.77096936G>C	ENSP00000454973:p.Phe144Leu		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.F144L	ENST00000563290.1	37	c.432	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979555	0.74360	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.64260	-0.09	5.34	1.24	0.21308	.	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	M	0.82517	2.595	0.47374	D	0.999406	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.76052	-0.3100	10	0.72032	D	0.01	.	9.4528	0.38736	0.3452:0.0:0.6548:0.0	.	144;159	Q6NSF1;Q9BY12-2	.;.	L	144;160	ENSP00000326924:F144L	ENSP00000303560:F160L	F	-	3	2	SCAPER	74883991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.013000	0.40942	0.227000	0.20999	-0.145000	0.13849	TTC	SCAPER	-	NULL		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	G	NM_020843		77096936	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77096936	G	C	77096936	3	2	77	1	0	0	0	0	1	0	0	0	13908	1281	45	1	3916	1	SCAPER	15	77096936	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	3482008	77096936	25434456	103	12114										
MRPL28	10573	genome.wustl.edu	37	chr16	419128	419128	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	aggtccagggtccgcatggtCacagtcactgtgaacttctt	11	11	3	1	rs374245702		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr16:419128C>A	ENST00000199706.8	-	3	416	c.381G>T	c.(379-381)gtG>gtT	p.V127V	MRPL28_ENST00000389675.2_Silent_p.V127V|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	127					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TCCGCATGGTCACAGTCACTG	0.552																																																	0													200	149	166					16																	419128		2203	4300	6503	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.381G>T	16.37:g.419128C>A			B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	NULL	p.V127	ENST00000199706.8	37	c.381	CCDS32349.1	16																																																																																			MRPL28	-	NULL		0.552	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	HGNC	protein_coding	OTTHUMT00000139285.2	C			419128	-1	no_errors	ENST00000199706	ensembl	human	known	70_37	silent	SNP	1.000	A	A	419128	C	A	419128	2	1	77	1	0	0	0	0	0	0	0	1	9815	813	29	3		3	MRPL28	16	419128	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		419128	89935625	104	12115										
CACNA1H	8912	genome.wustl.edu	37	chr16	1260464	1260464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	actgcgtcaccatcgccctgGagaggcctgacattgatccc	10	15	1	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr16:1260464G>C	ENST00000348261.5	+	19	4188	c.3940G>C	c.(3940-3942)Gag>Cag	p.E1314Q	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E1314Q|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E1314Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1314					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCGCCCTGGAGAGGCCTGA	0.622																																																	0													39	42	41					16																	1260464		2177	4272	6449	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3940G>C	16.37:g.1260464G>C	ENSP00000334198:p.Glu1314Gln		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.E1314Q	ENST00000348261.5	37	c.3940	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700793	0.88924	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97831	-4.56;-4.56	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	M	0.92923	3.36	0.50813	D	0.999896	D;D;D;D;D	0.89917	0.981;0.999;1.0;0.987;0.997	D;D;D;P;D	0.80764	0.954;0.989;0.994;0.882;0.982	D	0.99360	1.0917	10	0.87932	D	0	.	15.0975	0.72247	0.0:0.0:1.0:0.0	.	55;55;55;1314;1314	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Q	1314	ENSP00000334198:E1314Q;ENSP00000351401:E1314Q	ENSP00000334198:E1314Q	E	+	1	0	CACNA1H	1200465	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.569000	0.82380	2.098000	0.63641	0.543000	0.68304	GAG	CACNA1H	-	NULL		0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1260464	1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1260464	G	C	1260464	3	2	77	1	0	0	0	0	1	0	0	0	2550	1175	41	1	4010	1	CACNA1H	16	1260464	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	841336	1260464	89094289	105	12116										
ZNF768	79724	genome.wustl.edu	37	chr16	30536771	30536771	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cccaggggattctgaagcatCtcaaactgcggtgtagacag	12	10	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr16:30536771C>T	ENST00000380412.5	-	2	865	c.690G>A	c.(688-690)gaG>gaA	p.E230E	ZNF768_ENST00000562803.1_Silent_p.E199E	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	230					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTGAAGCATCTCAAACTGCG	0.652																																																	0													56	61	59					16																	30536771		2197	4300	6497	SO:0001819	synonymous_variant	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.690G>A	16.37:g.30536771C>T			Q569L7|Q96CX4	Silent	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E230	ENST00000380412.5	37	c.690	CCDS10681.2	16																																																																																			ZNF768	-	NULL		0.652	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	C	NM_024671		30536771	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30536771	C	T	30536771	2	4	77	1	0	0	0	0	0	0	0	1	18171	912	32	1		1	ZNF768	16	30536771	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	29276307	30536771	59817982	106	12117										
TGFB1I1	7041	genome.wustl.edu	37	chr16	31487834	31487834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gccttgggcactcactggcaCccagagcatttctgctgcgt	11	14	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr16:31487834C>T	ENST00000394863.3	+	9	1051	c.921C>T	c.(919-921)caC>caT	p.H307H	TGFB1I1_ENST00000361773.3_Silent_p.H290H|TGFB1I1_ENST00000567607.1_Silent_p.H290H|TGFB1I1_ENST00000394858.2_Silent_p.H290H	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	307	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CTCACTGGCACCCAGAGCATT	0.642																																																	0													52	51	51					16																	31487834		2196	4298	6494	SO:0001819	synonymous_variant	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.921C>T	16.37:g.31487834C>T			B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.H307	ENST00000394863.3	37	c.921	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.642	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31487834	1	no_errors	ENST00000394863	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31487834	C	T	31487834	2	4	77	1	0	0	0	0	0	0	0	1	15847	506	18	4		4	TGFB1I1	16	31487834	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	951063	31487834	58866919	107	12118										
ZNF232	7775	genome.wustl.edu	37	chr17	5009474	5009474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tacacttatagggtttctctCcagaatgaactctctggtgg	9	9	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:5009474C>G	ENST00000250076.3	-	5	1634	c.980G>C	c.(979-981)gGa>gCa	p.G327A	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.G318A|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	300					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GGGTTTCTCTCCAGAATGAAC	0.413																																																	0													106	108	108					17																	5009474		2203	4300	6503	SO:0001583	missense	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.980G>C	17.37:g.5009474C>G	ENSP00000250076:p.Gly327Ala			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G327A	ENST00000250076.3	37	c.980	CCDS11068.1	17	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014374	0.54468	.	.	ENSG00000167840	ENST00000250076	T	0.01505	4.82	2.99	2.99	0.34606	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31847	N	0.006977	T	0.06917	0.0176	M	0.62154	1.92	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64506	0.926;0.916	T	0.12993	-1.0526	10	0.72032	D	0.01	.	12.2055	0.54350	0.0:1.0:0.0:0.0	.	300;291	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	A	327	ENSP00000250076:G327A	ENSP00000250076:G327A	G	-	2	0	ZNF232	4950198	0.109000	0.22037	1.000000	0.80357	0.999000	0.98932	1.317000	0.33631	1.958000	0.56883	0.655000	0.94253	GGA	ZNF232	-	pfscan_Znf_C2H2		0.413	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	HGNC	protein_coding	OTTHUMT00000216915.1	C	NM_014519		5009474	-1	no_errors	ENST00000250076	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5009474	C	G	5009474	3	3	77	1	0	0	0	0	1	0	0	0	17815	855	30	1	358	1	ZNF232	17	5009474	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		5009474	76185736	108	12119										
MYH10	4628	genome.wustl.edu	37	chr17	8384713	8384713	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggcgtgtcggcgggctcgctCagatgaggcaagttcctaag	16	10	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:8384713C>T	ENST00000269243.4	-	36	5236	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1716K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1731K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1721K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1700					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CGGGCTCGCTCAGATGAGGCA	0.602																																																	0													87	74	79					17																	8384713		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5098G>A	17.37:g.8384713C>T	ENSP00000269243:p.Glu1700Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1721K	ENST00000269243.4	37	c.5161	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551398	0.86127	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;T;T;T	0.86627	-2.15;-1.39;-1.39;-1.39	5.08	5.08	0.68730	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94693	0.8288	M	0.89904	3.07	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.70016	0.967;0.911;0.967	D	0.95478	0.8558	10	0.87932	D	0	.	18.6618	0.91474	0.0:1.0:0.0:0.0	.	1709;1731;1700	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1700;1731;1721;1716	ENSP00000269243:E1700K;ENSP00000353590:E1731K;ENSP00000379539:E1721K;ENSP00000369315:E1716K	ENSP00000269243:E1700K	E	-	1	0	MYH10	8325438	1.000000	0.71417	0.958000	0.39756	0.306000	0.27790	7.609000	0.82925	2.632000	0.89209	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_tail		0.602	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8384713	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8384713	C	T	8384713	3	4	77	1	0	0	0	0	1	0	0	0	10053	835	29	1	856	1	MYH10	17	8384713	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	3375239	8384713	72810497	109	12120										
MYH10	4628	genome.wustl.edu	37	chr17	8508240	8508240	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gtacatttcaataatattctCagagtaaattggaagattct	6	5	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:8508240C>G	ENST00000269243.4	-	3	544	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E136Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E136Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E136Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	136	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATAATATTCTCAGAGTAAATT	0.333																																																	0													66	69	68					17																	8508240		2203	4298	6501	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.406G>C	17.37:g.8508240C>G	ENSP00000269243:p.Glu136Gln		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E136Q	ENST00000269243.4	37	c.406	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860653	0.91433	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.09	5.09	0.68999	Myosin head, motor domain (2);	0.104289	0.64402	D	0.000005	D	0.91818	0.7411	M	0.64404	1.975	0.80722	D	1	D;P;D	0.59357	0.985;0.826;0.985	D;D;D	0.63957	0.918;0.92;0.918	D	0.90670	0.4597	10	0.38643	T	0.18	.	18.6797	0.91543	0.0:1.0:0.0:0.0	.	136;136;136	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	136	ENSP00000269243:E136Q;ENSP00000353590:E136Q;ENSP00000379539:E136Q;ENSP00000369315:E136Q;ENSP00000408220:E136Q	ENSP00000269243:E136Q	E	-	1	0	MYH10	8448965	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.600000	0.82769	2.627000	0.88993	0.563000	0.77884	GAG	MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.333	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8508240	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8508240	C	G	8508240	3	3	77	1	0	0	0	0	1	0	0	0	10053	835	29	1	5680	1	MYH10	17	8508240	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	123527	8508240	72686970	110	12121										
MYH8	4626	genome.wustl.edu	37	chr17	10304060	10304060	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tttggctcgggacgccctctCtgcctcgatttcttccccca	8	17	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:10304060C>G	ENST00000403437.2	-	27	3476	c.3382G>C	c.(3382-3384)Gag>Cag	p.E1128Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1128					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACGCCCTCTCTGCCTCGATT	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													44	49	47					17																	10304060		2202	4300	6502	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3382G>C	17.37:g.10304060C>G	ENSP00000384330:p.Glu1128Gln		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1128Q	ENST00000403437.2	37	c.3382	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139178	0.77775	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85171	-1.95	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.41938	U	0.000786	D	0.95478	0.8531	H	0.97340	3.985	0.58432	D	0.999998	D	0.76494	0.999	D	0.73380	0.98	D	0.96696	0.9514	10	0.87932	D	0	.	19.3244	0.94256	0.0:1.0:0.0:0.0	.	1128	P13535	MYH8_HUMAN	Q	1128	ENSP00000384330:E1128Q	ENSP00000252173:E1128Q	E	-	1	0	MYH8	10244785	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.531000	0.81973	2.794000	0.96219	0.655000	0.94253	GAG	MYH8	-	pfam_Myosin_tail		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10304060	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10304060	C	G	10304060	3	3	77	1	0	0	0	0	1	0	0	0	10064	922	32	1	2487	1	MYH8	17	10304060	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	1795820	10304060	70891150	111	12122										
TIAF1	9220	genome.wustl.edu	37	chr17	27400946	27400946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcaggagggaggcagtgcttGgatcagccctgaactgctgt	16	9	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:27400946G>T	ENST00000359450.6	-	1	4929	c.272C>A	c.(271-273)cCa>cAa	p.P91Q	TIAF1_ENST00000408971.2_Missense_Mutation_p.P91Q|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	91					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCAGTGCTTGGATCAGCCCT	0.517																																																	0													167	142	151					17																	27400946		2203	4300	6503	SO:0001583	missense	9220			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.272C>A	17.37:g.27400946G>T	ENSP00000352424:p.Pro91Gln		A2RRE2|Q6PEG2	Missense_Mutation	SNP	NULL	p.P91Q	ENST00000359450.6	37	c.272	CCDS32599.1	17	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198773	0.22121	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	4.39	3.39	0.38822	.	.	.	.	.	T	0.34483	0.0899	N	0.08118	0	0.22305	N	0.999215	D	0.76494	0.999	D	0.74023	0.982	T	0.08806	-1.0704	8	0.87932	D	0	.	5.4883	0.16761	0.1013:0.0:0.6986:0.2001	.	91	O95411	TIAF1_HUMAN	Q	91	.	ENSP00000386130:P91Q	P	-	2	0	TIAF1	24425072	0.948000	0.32251	0.996000	0.52242	0.981000	0.71138	2.199000	0.42715	1.173000	0.42796	0.655000	0.94253	CCA	TIAF1	-	NULL		0.517	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAF1	HGNC	protein_coding	OTTHUMT00000372394.2	G	NM_004740		27400946	-1	no_errors	ENST00000359450	ensembl	human	known	70_37	missense	SNP	0.876	T	T	27400946	G	T	27400946	3	4	77	1	0	0	0	0	1	0	0	0	15918	1348	47	4	79	4	TIAF1	17	27400946	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	17096886	27400946	53794264	112	12123										
GPR179	440435	genome.wustl.edu	37	chr17	36484561	36484561	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cttttcccaagctgtgacatCttcgatttccgattttccag	6	12	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:36484561C>T	ENST00000342292.4	-	11	4911	c.4891G>A	c.(4891-4893)Gat>Aat	p.D1631N	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1631					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGTGACATCTTCGATTTCC	0.517																																																	0													122	122	122					17																	36484561		1929	4131	6060	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4891G>A	17.37:g.36484561C>T	ENSP00000345060:p.Asp1631Asn			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.D1631N	ENST00000342292.4	37	c.4891	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519322	0.44866	.	.	ENSG00000188888	ENST00000342292	T	0.55234	0.53	4.83	3.86	0.44501	.	0.451542	0.18681	N	0.134178	T	0.50103	0.1596	L	0.44542	1.39	0.09310	N	1	D	0.57899	0.981	P	0.52109	0.69	T	0.33752	-0.9856	10	0.32370	T	0.25	-2.4533	6.9513	0.24546	0.0:0.7314:0.1754:0.0932	.	1631	Q6PRD1	GP179_HUMAN	N	1631	ENSP00000345060:D1631N	ENSP00000345060:D1631N	D	-	1	0	GPR179	33738087	0.082000	0.21442	0.016000	0.15963	0.039000	0.13416	2.641000	0.46587	1.388000	0.46506	0.655000	0.94253	GAT	GPR179	-	NULL		0.517	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36484561	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.013	T	T	36484561	C	T	36484561	3	4	77	1	0	0	0	0	1	0	0	0	6693	913	32	1	2216	1	GPR179	17	36484561	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	9083615	36484561	44710649	113	12124										
GPR179	440435	genome.wustl.edu	37	chr17	36484589	36484589	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tccgattttccaggcattttCtccttgtccttttgagattc	6	11	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:36484589C>T	ENST00000342292.4	-	11	4883	c.4863G>A	c.(4861-4863)gaG>gaA	p.E1621E	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1621					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGCATTTTCTCCTTGTCCT	0.498																																																	0													134	133	133					17																	36484589		1926	4123	6049	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4863G>A	17.37:g.36484589C>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E1621	ENST00000342292.4	37	c.4863	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.498	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36484589	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.683	T	T	36484589	C	T	36484589	2	4	77	1	0	0	0	0	0	0	0	1	6693	912	32	1		1	GPR179	17	36484589	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	28	36484589	44710621	114	12125										
MED1	5469	genome.wustl.edu	37	chr17	37565278	37565278	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cactgttcccttaggaatctGaatagtgattttgggaatgg	11	6	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:37565278G>A	ENST00000300651.6	-	17	3419	c.3196C>T	c.(3196-3198)Cag>Tag	p.Q1066*	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTAGGAATCTGAATAGTGATT	0.522										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													102	99	100					17																	37565278		2203	4300	6503	SO:0001587	stop_gained	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3196C>T	17.37:g.37565278G>A	ENSP00000300651:p.Gln1066*		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.Q1066*	ENST00000300651.6	37	c.3196	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	40	7.966036	0.98585	.	.	ENSG00000125686	ENST00000300651	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.4877	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	1066	.	ENSP00000300651:Q1066X	Q	-	1	0	MED1	34818804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.526000	0.98042	2.941000	0.99782	0.655000	0.94253	CAG	MED1	-	NULL		0.522	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	G	NM_004774		37565278	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	37565278	G	A	37565278	4	1	77	1	0	0	0	0	0	1	0	0	9448	1299	45	1	1553	1	MED1	17	37565278	Nonsense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	1080689	37565278	43629932	115	12126										
JUP	3728	genome.wustl.edu	37	chr17	39919565	39919565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agaatcttcagcacactctcCaggccctcctggagggcaag	10	14	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:39919565C>T	ENST00000393931.3	-	8	1285	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.L389L|JUP_ENST00000310706.5_Silent_p.L389L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	389					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCACACTCTCCAGGCCCTCCT	0.572																																					Colon(16;42 520 6044 17852 28530)												0													62	57	59					17																	39919565		2203	4300	6503	SO:0001819	synonymous_variant	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1167G>A	17.37:g.39919565C>T			Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.L389	ENST00000393931.3	37	c.1167	CCDS11407.1	17																																																																																			JUP	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.572	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	C			39919565	-1	no_errors	ENST00000310706	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39919565	C	T	39919565	2	4	77	1	0	0	0	0	0	0	0	1	7992	581	21	4		4	JUP	17	39919565	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	2354287	39919565	41275645	116	12127										
JUP	3728	genome.wustl.edu	37	chr17	39925391	39925391	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	accagctggggcgagcccatCagggcccgccgcgacgcctc	14	18	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:39925391C>G	ENST00000393931.3	-	4	655	c.537G>C	c.(535-537)ctG>ctC	p.L179L	JUP_ENST00000540235.1_Silent_p.L179L|JUP_ENST00000393930.1_Silent_p.L179L|JUP_ENST00000310706.5_Silent_p.L179L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	179	Interaction with DSC1 and DSG1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGAGCCCATCAGGGCCCGCC	0.657																																					Colon(16;42 520 6044 17852 28530)												0													37	36	36					17																	39925391		2203	4300	6503	SO:0001819	synonymous_variant	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.537G>C	17.37:g.39925391C>G			Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.L179	ENST00000393931.3	37	c.537	CCDS11407.1	17																																																																																			JUP	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin		0.657	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	C			39925391	-1	no_errors	ENST00000310706	ensembl	human	known	70_37	silent	SNP	0.998	G	G	39925391	C	G	39925391	2	3	77	1	0	0	0	0	0	0	0	1	7992	813	29	1		1	JUP	17	39925391	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	5826	39925391	41269819	117	12128										
STXBP4	252983	genome.wustl.edu	37	chr17	53237197	53237197	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tcctggatccatcccgtgatGagtgtcctgaatctatctcg	9	12	2	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr17:53237197G>C	ENST00000376352.2	+	18	1794	c.1587G>C	c.(1585-1587)atG>atC	p.M529I	STXBP4_ENST00000434978.2_Missense_Mutation_p.M507I	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	529	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATCCCGTGATGAGTGTCCTGA	0.433																																																	0													128	104	112					17																	53237197		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1587G>C	17.37:g.53237197G>C	ENSP00000365530:p.Met529Ile		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.M529I	ENST00000376352.2	37	c.1587	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753571	0.31046	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.03468	3.92;3.93	5.22	2.97	0.34412	WW/Rsp5/WWP (3);	0.343317	0.26824	N	0.022303	T	0.01661	0.0053	N	0.05199	-0.095	0.80722	D	1	B;B	0.23442	0.085;0.085	B;B	0.14023	0.01;0.01	T	0.54357	-0.8306	10	0.27785	T	0.31	-6.2618	3.8553	0.08973	0.2361:0.1981:0.5658:0.0	.	507;529	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	I	529;507	ENSP00000365530:M529I;ENSP00000391087:M507I	ENSP00000365530:M529I	M	+	3	0	STXBP4	50592196	0.963000	0.33076	0.988000	0.46212	0.984000	0.73092	0.191000	0.17076	1.288000	0.44600	0.563000	0.77884	ATG	STXBP4	-	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.433	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53237197	1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	0.988	C	C	53237197	G	C	53237197	3	2	77	1	0	0	0	0	1	0	0	0	15385	1290	45	1	1649	1	STXBP4	17	53237197	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	13311806	53237197	27958013	118	12129										
KIAA1012	22878	genome.wustl.edu	37	chr18	29444664	29444664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atatttaacagatgttttctCttcttttgtgttgttaagtc	6	5	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr18:29444664C>G	ENST00000283351.4	-	19	3006	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E837Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	891					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATGTTTTCTCTTCTTTTGTG	0.358																																																	0													125	118	120					18																	29444664		2202	4300	6502	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2671G>C	18.37:g.29444664C>G	ENSP00000283351:p.Glu891Gln		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.E891Q	ENST00000283351.4	37	c.2671	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070996	0.55646	.	.	ENSG00000153339	ENST00000283351	T	0.09630	2.96	5.91	5.91	0.95273	.	0.095769	0.64402	D	0.000001	T	0.22666	0.0547	L	0.43554	1.36	0.80722	D	1	D	0.63046	0.992	P	0.57324	0.818	T	0.00356	-1.1793	10	0.23891	T	0.37	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	891	Q9Y2L5	TPPC8_HUMAN	Q	891	ENSP00000283351:E891Q	ENSP00000283351:E891Q	E	-	1	0	TRAPPC8	27698662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.247000	0.78257	2.809000	0.96659	0.555000	0.69702	GAG	TRAPPC8	-	NULL		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	C	NM_014939		29444664	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29444664	C	G	29444664	3	3	77	1	0	0	0	0	1	0	0	0	8224	922	32	1	1680	1	KIAA1012	18	29444664	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		29444664	48632584	119	12130										
TCEB3C	162699	genome.wustl.edu	37	chr18	44555665	44555665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ccgggcacagcgggctcaggGccctcgggcatcgggagggg	20	13	1	0	rs139609120		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr18:44555665G>A	ENST00000330682.2	-	1	784	c.549C>T	c.(547-549)ggC>ggT	p.G183G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	183	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGGGCTCAGGGCCCTCGGGCA	0.726																																																	0													1	1	1					18																	44555665		27	70	97	SO:0001819	synonymous_variant	162699			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.549C>T	18.37:g.44555665G>A				Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G183	ENST00000330682.2	37	c.549	CCDS11931.1	18																																																																																			TCEB3C	-	NULL		0.726	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3C	HGNC	protein_coding	OTTHUMT00000255902.1	G	NM_145653		44555665	-1	no_errors	ENST00000330682	ensembl	human	known	70_37	silent	SNP	0.003	A	A	44555665	G	A	44555665	2	1	77	1	0	0	0	0	0	0	0	1	15713	1190	42	4		4	TCEB3C	18	44555665	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	15111001	44555665	33521583	120	12131										
MYO5B	4645	genome.wustl.edu	37	chr18	47500758	47500758	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ccgatgaaggagtgctgcttGagggaggtgtgcagggcctt	18	7	0	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr18:47500758G>C	ENST00000285039.7	-	10	1583	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	428	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTGCTGCTTGAGGGAGGTGT	0.572																																																	0													123	134	130					18																	47500758		2173	4254	6427	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1284C>G	18.37:g.47500758G>C			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L428	ENST00000285039.7	37	c.1284	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	G			47500758	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	silent	SNP	1.000	C	C	47500758	G	C	47500758	2	2	77	1	0	0	0	0	0	0	0	1	10102	1277	45	1		1	MYO5B	18	47500758	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	2945093	47500758	30576490	121	12132										
DOK6	220164	genome.wustl.edu	37	chr18	67231744	67231744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ttttcagacgatgctggttgGttttcaagaaggcttctagc	11	7	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr18:67231744G>T	ENST00000382713.5	+	2	278	c.88G>T	c.(88-90)Gtt>Ttt	p.V30F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	30	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATGCTGGTTGGTTTTCAAGAA	0.353																																																	0													82	82	82					18																	67231744		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.88G>T	18.37:g.67231744G>T	ENSP00000372160:p.Val30Phe		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.V30F	ENST00000382713.5	37	c.88	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.133222	0.94517	.	.	ENSG00000206052	ENST00000382713	T	0.79247	-1.25	5.86	5.86	0.93980	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	L	0.59436	1.845	0.80722	D	1	P	0.46706	0.883	P	0.58928	0.848	D	0.85557	0.1225	10	0.87932	D	0	-11.0706	19.5509	0.95319	0.0:0.0:1.0:0.0	.	30	Q6PKX4	DOK6_HUMAN	F	30	ENSP00000372160:V30F	ENSP00000372160:V30F	V	+	1	0	DOK6	65382724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.342000	0.97044	2.937000	0.99478	0.650000	0.86243	GTT	DOK6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.353	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721		67231744	1	no_errors	ENST00000382713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67231744	G	T	67231744	3	4	77	1	0	0	0	0	1	0	0	0	4711	1261	44	4	94	4	DOK6	18	67231744	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	19730986	67231744	10845504	122	12133										
RYR1	6261	genome.wustl.edu	37	chr19	39063838	39063838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgcccctggtaatctttaagCgggagaaggagctggcccgg	15	10	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr19:39063838C>T	ENST00000359596.3	+	96	14020	c.14020C>T	c.(14020-14022)Cgg>Tgg	p.R4674W	RYR1_ENST00000355481.4_Missense_Mutation_p.R4669W|RYR1_ENST00000360985.3_Missense_Mutation_p.R4669W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4674					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AATCTTTAAGCGGGAGAAGGA	0.587																																																	0													83	78	80					19																	39063838		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14020C>T	19.37:g.39063838C>T	ENSP00000352608:p.Arg4674Trp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R4674W	ENST00000359596.3	37	c.14020	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877451	0.33162	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98105	-4.72;-4.72;-4.72	4.39	3.34	0.38264	.	0.000000	0.64402	U	0.000004	D	0.98560	0.9519	M	0.84683	2.71	0.50039	D	0.999848	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.99198	1.0872	10	0.87932	D	0	.	12.4518	0.55681	0.3006:0.6994:0.0:0.0	.	4669;4674	P21817-2;P21817	.;RYR1_HUMAN	W	4674;4669;4669	ENSP00000352608:R4674W;ENSP00000347667:R4669W;ENSP00000354254:R4669W	ENSP00000347667:R4669W	R	+	1	2	RYR1	43755678	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.412000	0.44609	1.049000	0.40321	0.313000	0.20887	CGG	RYR1	-	NULL		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39063838	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39063838	C	T	39063838	3	4	77	1	0	0	0	0	1	0	0	0	13798	759	27	2	14402	2	RYR1	19	39063838	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		39063838	20065145	123	12134										
KCNN4	3783	genome.wustl.edu	37	chr19	44278346	44278346	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	tgcctccatcaccctcacctCtcggccacggacagcaccca	6	21	3	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr19:44278346C>T	ENST00000262888.3	-	3	1076	c.681G>A	c.(679-681)gaG>gaA	p.E227E		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	227					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	ACCCTCACCTCTCGGCCACGG	0.677											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	17	17					19																	44278346		2194	4293	6487	SO:0001819	synonymous_variant	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.681G>A	19.37:g.44278346C>T		922	Q53XR4	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom	p.E227	ENST00000262888.3	37	c.681	CCDS12630.1	19																																																																																			KCNN4	-	pfam_Ion_trans_2		0.677	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNN4	HGNC	protein_coding	OTTHUMT00000463598.1	C	NM_002250		44278346	-1	no_errors	ENST00000262888	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44278346	C	T	44278346	2	4	77	1	0	0	0	0	0	0	0	1	8101	912	32	1		1	KCNN4	19	44278346	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	5214508	44278346	14850637	124	12135										
PPM1N	147699	genome.wustl.edu	37	chr19	46003774	46003774	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	agttttcaggactctggcctCagaggacatcccagatttac	9	11	3	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr19:46003774C>G	ENST00000451287.2	+	3	1118	c.1118C>G	c.(1117-1119)tCa>tGa	p.S373*	PPM1N_ENST00000456399.2_Nonsense_Mutation_p.S55*|PPM1N_ENST00000401705.1_Nonsense_Mutation_p.S55*|PPM1N_ENST00000396735.2_Nonsense_Mutation_p.S55*|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000401593.1_Nonsense_Mutation_p.S55*|PPM1N_ENST00000396736.2_Nonsense_Mutation_p.S55*|PPM1N_ENST00000396737.2_Nonsense_Mutation_p.S55*	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	373							magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACTCTGGCCTCAGAGGACATC	0.582																																																	0													27	27	27					19																	46003774		1902	4113	6015	SO:0001587	stop_gained	147699			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.1118C>G	19.37:g.46003774C>G	ENSP00000397050:p.Ser373*		Q6P662	Nonsense_Mutation	SNP	pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like	p.S373*	ENST00000451287.2	37	c.1118	CCDS46115.1	19	.	.	.	.	.	.	.	.	.	.	c	24.0	4.481803	0.84747	.	.	ENSG00000213889	ENST00000401705;ENST00000456399;ENST00000396737;ENST00000451287;ENST00000396734;ENST00000396735;ENST00000401593;ENST00000402807;ENST00000396736	.	.	.	3.37	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.0996	0.36660	0.0:0.887:0.0:0.113	.	.	.	.	X	55;55;55;373;373;55;55;55;55	.	ENSP00000379960:S373X	S	+	2	0	PPM1N	50695614	0.003000	0.15002	0.942000	0.38095	0.930000	0.56654	1.559000	0.36320	1.007000	0.39238	-0.142000	0.14014	TCA	PPM1N	-	pfam_PP2C_C,superfamily_PP2C_C		0.582	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PPM1N	HGNC	protein_coding	OTTHUMT00000326517.2	C	NM_001080401		46003774	1	no_errors	ENST00000451287	ensembl	human	known	70_37	nonsense	SNP	0.988	G	G	46003774	C	G	46003774	4	3	77	1	0	0	0	0	0	1	0	0	12373	838	29	1	1128	1	PPM1N	19	46003774	Nonsense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	1725428	46003774	13125209	125	12136										
C5AR1	728	genome.wustl.edu	37	chr19	47823991	47823991	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	aaatccctccccagcctcctCcggaacgtgttgactgaaga	8	15	0	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr19:47823991C>T	ENST00000355085.3	+	2	979	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	319					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCAGCCTCCTCCGGAACGTGT	0.592																																																	0													76	74	74					19																	47823991		2203	4300	6503	SO:0001819	synonymous_variant	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.957C>T	19.37:g.47823991C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.L319	ENST00000355085.3	37	c.957	CCDS33063.1	19																																																																																			C5AR1	-	NULL		0.592	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	C	NM_001736		47823991	1	no_errors	ENST00000355085	ensembl	human	known	70_37	silent	SNP	0.002	T	T	47823991	C	T	47823991	2	4	77	1	0	0	0	0	0	0	0	1	2286	842	30	1		1	C5AR1	19	47823991	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	1820217	47823991	11304992	126	12137										
TBC1D20	128637	genome.wustl.edu	37	chr20	419231	419231	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggaaggtcttctctggctttCagggaaacagctgcagctga	13	9	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr20:419231C>A	ENST00000354200.4	-	8	1358	c.1211G>T	c.(1210-1212)tGa>tTa	p.*404L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	0					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CTCTGGCTTTCAGGGAAACAG	0.517																																																	0													70	75	73					20																	419231		2203	4300	6503	SO:0001578	stop_lost	128637			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"chromosome 20 open reading frame 140"	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1211G>T	20.37:g.419231C>A			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Nonstop_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.*404L	ENST00000354200.4	37	c.1211	CCDS13002.1	20	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969106	0.34754	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	.	.	.	6.17	0.223	0.15292	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6035	0.45381	0.0:0.6323:0.0:0.3677	.	.	.	.	L	404;429	.	.	X	-	2	2	TBC1D20	367231	0.998000	0.40836	0.655000	0.29622	0.976000	0.68499	0.966000	0.29331	0.068000	0.16574	0.655000	0.94253	TGA	TBC1D20	-	NULL		0.517	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2	C	NM_144628		419231	-1	no_errors	ENST00000354200	ensembl	human	known	70_37	nonstop	SNP	0.974	A	A	419231	C	A	419231	4	1	77	1	0	0	0	0	0	0	0	0	15639	837	29	3	4	3	TBC1D20	20	419231	Nonstop_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		419231	62606289	127	12138										
HCK	3055	genome.wustl.edu	37	chr20	30681813	30681813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	aggacaacgagtacacggctCgggaaggtagggaacgctgc	16	9	0	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr20:30681813C>T	ENST00000520553.1	+	11	1423	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	HCK_ENST00000538448.1_Missense_Mutation_p.R393W|HCK_ENST00000534862.1_Missense_Mutation_p.R394W|HCK_ENST00000518730.1_Missense_Mutation_p.R392W|HCK_ENST00000375862.2_Missense_Mutation_p.R413W|HCK_ENST00000375852.2_Missense_Mutation_p.R414W	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R393W(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTACACGGCTCGGGAAGGTAG	0.537																																																	1	Substitution - Missense(1)	prostate(1)											143	121	128					20																	30681813		2203	4300	6503	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1177C>T	20.37:g.30681813C>T	ENSP00000429848:p.Arg393Trp		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.R414W	ENST00000520553.1	37	c.1240	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857119	0.71834	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.05	5.05	0.67936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.89093	0.6617	M	0.68728	2.09	0.47949	D	0.999558	D;D	0.76494	0.999;0.999	D;D	0.72338	0.961;0.977	D	0.89672	0.3884	10	0.87932	D	0	.	12.6533	0.56774	0.1649:0.8351:0.0:0.0	.	392;414	P08631-3;P08631	.;HCK_HUMAN	W	394;393;413;393;392;414	ENSP00000444986:R394W;ENSP00000441169:R393W;ENSP00000365022:R413W;ENSP00000429848:R393W;ENSP00000427757:R392W;ENSP00000365012:R414W	ENSP00000365012:R414W	R	+	1	2	HCK	30145474	0.919000	0.31177	1.000000	0.80357	0.940000	0.58332	1.896000	0.39789	2.632000	0.89209	0.542000	0.68232	CGG	HCK	-	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,pfscan_Prot_kinase_cat_dom		0.537	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	C			30681813	1	no_errors	ENST00000375852	ensembl	human	known	70_37	missense	SNP	0.998	T	T	30681813	C	T	30681813	3	4	77	1	0	0	0	0	1	0	0	0	7014	875	31	1	1288	1	HCK	20	30681813	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	30262582	30681813	32343707	128	12139										
LAMA5	3911	genome.wustl.edu	37	chr20	60893630	60893631	+	Frame_Shift_Ins	INS	-	-	CGGT													0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cggcctcgtgctgggccagcINScggtcgcgggtttgtgtggc					rs148907937	byFrequency	TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr20:60893630_60893631insCGGT	ENST00000252999.3	-	53	7184_7185	c.7118_7119insACCG	c.(7117-7119)cggfs	p.-2373fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCTGGGCCAGCCGGTCGCGGGT	0.688																																																	0																																										SO:0001589	frameshift_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7115_7118dupACCG	20.37:g.60893631_60893634dupCGGT	ENSP00000252999:p.Arg2373fs		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.L2374fs	ENST00000252999.3	37	c.7119_7118	CCDS33502.1	20																																																																																			LAMA5	-	pfam_Laminin_I		0.688	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	NM_005560		60893631	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	frame_shift_ins	INS	0.657:0.009	CGGT	CGGT	60893631	-	CGGT	60893630	7	5	77	1	0	1	1	0	0	0	0	0	8629	726	26	0	4080	0	LAMA5	20	60893630	Frame_Shift_Ins	INS	-	TCGA-EA-A3Y4-01A-51D-A243-09	30211817	60893630	2131890	129	12140										
RNF160	26046	genome.wustl.edu	37	chr21	30329098	30329098	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	acttacttattttctcaagcTcattattttctaagactgtt	3	8	3	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr21:30329098T>A	ENST00000361371.5	-	16	3144	c.3065A>T	c.(3064-3066)gAg>gTg	p.E1022V	LTN1_ENST00000389194.2_Missense_Mutation_p.E1068V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1022					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTCTCAAGCTCATTATTTTC	0.294																																																	0													54	48	50					21																	30329098		2199	4294	6493	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3065A>T	21.37:g.30329098T>A	ENSP00000354977:p.Glu1022Val		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.E1022V	ENST00000361371.5	37	c.3065		21	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620958	0.28889	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.19669	2.13;2.14	5.1	3.94	0.45596	.	0.257704	0.38272	N	0.001758	T	0.11793	0.0287	N	0.14661	0.345	0.25297	N	0.989314	B	0.06786	0.001	B	0.04013	0.001	T	0.19778	-1.0295	10	0.34782	T	0.22	.	9.2614	0.37614	0.1885:0.0:0.0:0.8115	.	1022	O94822	LTN1_HUMAN	V	1068;1022	ENSP00000373846:E1068V;ENSP00000354977:E1022V	ENSP00000354977:E1022V	E	-	2	0	LTN1	29250969	0.996000	0.38824	0.997000	0.53966	0.930000	0.56654	3.417000	0.52714	0.949000	0.37715	0.533000	0.62120	GAG	LTN1	-	NULL		0.294	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	T	NM_015565		30329098	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30329098	T	A	30329098	3	1	77	1	0	0	0	0	1	0	0	0	13485	1551	54	5	2295	5	RNF160	21	30329098	Missense_Mutation	SNP	T	TCGA-EA-A3Y4-01A-51D-A243-09		30329098	17800797	130	12141										
COL6A1	1291	genome.wustl.edu	37	chr21	47406452	47406452	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctgtccaggggctcccacctGaaggagaataagtacctgat	11	11	0	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr21:47406452G>A	ENST00000361866.3	+	4	555	c.441G>A	c.(439-441)ctG>ctA	p.L147L		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	147	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCTCCCACCTGAAGGAGAATA	0.637																																																	0													28	28	28					21																	47406452		2177	4274	6451	SO:0001819	synonymous_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.441G>A	21.37:g.47406452G>A			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L147	ENST00000361866.3	37	c.441	CCDS13727.1	21																																																																																			COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	G	NM_001848		47406452	1	no_errors	ENST00000361866	ensembl	human	known	70_37	silent	SNP	0.374	A	A	47406452	G	A	47406452	2	1	77	1	0	0	0	0	0	0	0	1	3704	1277	45	1		1	COL6A1	21	47406452	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	17077354	47406452	723443	131	12142										
SEPT5	5413	genome.wustl.edu	37	chr22	19709399	19709399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcgcaacatgctcatccgcaCgcatatgcacgacctcaagg	9	15	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:19709399C>T	ENST00000455784.2	+	10	994	c.869C>T	c.(868-870)aCg>aTg	p.T290M	SEPT5_ENST00000383045.3_Missense_Mutation_p.T299M|SEPT5_ENST00000406395.1_Silent_p.H286H|SEPT5_ENST00000438754.2_Silent_p.H295H|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	290	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CTCATCCGCACGCATATGCAC	0.657																																																	0													62	56	58					22																	19709399		2203	4299	6502	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.869C>T	22.37:g.19709399C>T	ENSP00000391311:p.Thr290Met		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.T299M	ENST00000455784.2	37	c.896	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.546492	0.96488	.	.	ENSG00000184702	ENST00000455784;ENST00000412544;ENST00000383045	T;T;T	0.55052	0.54;0.54;0.54	3.82	3.82	0.43975	.	0.215360	0.37530	N	0.002041	T	0.80813	0.4695	H	0.95884	3.735	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	D	0.88009	0.2761	10	0.87932	D	0	.	16.2687	0.82603	0.0:1.0:0.0:0.0	.	290	Q99719	SEPT5_HUMAN	M	290;243;299	ENSP00000391311:T290M;ENSP00000408678:T243M;ENSP00000372515:T299M	ENSP00000372515:T299M	T	+	2	0	SEPT5	18089399	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.532000	0.81985	2.145000	0.66743	0.478000	0.44815	ACG	SEPT5	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.657	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	C	NM_002688		19709399	1	no_errors	ENST00000383045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19709399	C	T	19709399	3	4	77	1	0	0	0	0	1	0	0	0	14097	536	19	2	907	2	SEPT5	22	19709399	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09		19709399	31595167	132	12143										
GNB1L	54584	genome.wustl.edu	37	chr22	19776256	19776256	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gcgcgtgggtagagtgaccaGaggctgatccgctgatcctt	15	10	0	5			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:19776256G>T	ENST00000329517.6	-	8	1196	c.960C>A	c.(958-960)ctC>ctA	p.L320L	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Silent_p.L320L	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	320					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGAGTGACCAGAGGCTGATCC	0.682																																																	0													53	50	51					22																	19776256		2203	4299	6502	SO:0001819	synonymous_variant	54584			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.960C>A	22.37:g.19776256G>T			Q9H2S2|Q9H4M4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L320	ENST00000329517.6	37	c.960	CCDS13768.1	22																																																																																			GNB1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.682	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	G			19776256	-1	no_errors	ENST00000329517	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19776256	G	T	19776256	2	4	77	1	0	0	0	0	0	0	0	1	6535	929	33	3		3	GNB1L	22	19776256	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	66857	19776256	31528310	133	12144										
MYO18B	84700	genome.wustl.edu	37	chr22	26164199	26164199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctgggagctcagacattctgGgcaaggagagcgaggggtcc	17	9	2	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:26164199G>A	ENST00000407587.2	+	4	485	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	MYO18B_ENST00000335473.7_Missense_Mutation_p.G106S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G106S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	106	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGACATTCTGGGCAAGGAGAG	0.602																																																	0													75	81	79					22																	26164199		1968	4152	6120	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.316G>A	22.37:g.26164199G>A	ENSP00000386096:p.Gly106Ser		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G106S	ENST00000407587.2	37	c.316		22	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931952	0.34096	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.71	-1.68	0.08212	.	0.440233	0.16897	N	0.195058	D	0.82595	0.5071	M	0.63428	1.95	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.70726	-0.4793	10	0.46703	T	0.11	.	11.108	0.48214	0.4117:0.0:0.5883:0.0	.	106	F5GYU7	.	S	106	ENSP00000441229:G106S;ENSP00000334563:G106S;ENSP00000386096:G106S	ENSP00000334563:G106S	G	+	1	0	MYO18B	24494199	0.008000	0.16893	0.000000	0.03702	0.358000	0.29455	1.126000	0.31344	-0.428000	0.07339	-1.626000	0.00786	GGC	MYO18B	-	NULL		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	G	NM_032608		26164199	1	no_errors	ENST00000335473	ensembl	human	known	70_37	missense	SNP	0.000	A	A	26164199	G	A	26164199	3	1	77	1	0	0	0	0	1	0	0	0	10089	1232	43	4	326	4	MYO18B	22	26164199	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	6387943	26164199	25140367	134	12145										
MYH9	4627	genome.wustl.edu	37	chr22	36700097	36700097	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cctatgatgacgtcggtgatCttcaggtctcgctcctcctc	9	14	3	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:36700097C>G	ENST00000216181.5	-	19	2564	c.2334G>C	c.(2332-2334)aaG>aaC	p.K778N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	778					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGTCGGTGATCTTCAGGTCTC	0.622			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													67	62	64					22																	36700097		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2334G>C	22.37:g.36700097C>G	ENSP00000216181:p.Lys778Asn		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K778N	ENST00000216181.5	37	c.2334	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308719	0.81247	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72835	-0.69	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.90805	0.4697	10	0.87932	D	0	.	12.0024	0.53240	0.0:0.8745:0.0:0.1255	.	778	P35579	MYH9_HUMAN	N	642;778	ENSP00000216181:K778N	ENSP00000216181:K778N	K	-	3	2	MYH9	35030043	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.084000	0.57650	2.553000	0.86117	0.655000	0.94253	AAG	MYH9	-	smart_IQ_motif_EF-hand-BS		0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36700097	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36700097	C	G	36700097	3	3	77	1	0	0	0	0	1	0	0	0	10065	912	32	1	3640	1	MYH9	22	36700097	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	10535898	36700097	14604469	135	12146			2	49		2	2	21	C		9.432085e-05
MYH9	4627	genome.wustl.edu	37	chr22	36700117	36700117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cttcaggtctcgctcctcctCcaggtgggccagcacaccgg	11	17	2	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:36700117C>T	ENST00000216181.5	-	19	2544	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	772	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCCTCCTCCAGGTGGGCC	0.597			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													69	63	65					22																	36700117		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2314G>A	22.37:g.36700117C>T	ENSP00000216181:p.Glu772Lys		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E772K	ENST00000216181.5	37	c.2314	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.738087	0.96865	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.74737	-0.87	5.12	5.12	0.69794	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.93344	0.7878	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96586	0.9434	10	0.87932	D	0	.	18.9188	0.92516	0.0:1.0:0.0:0.0	.	772	P35579	MYH9_HUMAN	K	636;772	ENSP00000216181:E772K	ENSP00000216181:E772K	E	-	1	0	MYH9	35030063	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.553000	0.86117	0.655000	0.94253	GAG	MYH9	-	smart_Myosin_head_motor_dom		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36700117	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36700117	C	T	36700117	3	4	77	1	0	0	0	0	1	0	0	0	10065	864	30	1	3660	1	MYH9	22	36700117	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	20	36700117	14604449	136	12147			2	49		2	2	21	C		9.432085e-05
TST	7263	genome.wustl.edu	37	chr22	37414661	37414661	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gggcctctcgggtgcctggtGagtaccaggacgcgtccagc	16	13	1	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:37414661G>A	ENST00000403892.3	-	1	847	c.113C>T	c.(112-114)tCa>tTa	p.S38L	MPST_ENST00000401419.3_5'Flank|MPST_ENST00000397129.1_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000429360.2_5'Flank|MPST_ENST00000404802.3_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.S38L|MPST_ENST00000404393.1_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	38	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGTGCCTGGTGAGTACCAGGA	0.672																																																	0													5	5	5					22																	37414661		2051	4087	6138	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.113C>T	22.37:g.37414661G>A	ENSP00000385828:p.Ser38Leu		B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.S38L	ENST00000403892.3	37	c.113	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	G	4.768	0.142759	0.09083	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912;ENST00000438203	T;T;T	0.38240	1.15;1.15;1.15	5.36	4.32	0.51571	Rhodanese-like (5);	0.378995	0.26919	N	0.021840	T	0.04907	0.0132	N	0.00020	-2.76	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.02654	T	1	-13.2964	8.0479	0.30559	0.073:0.0:0.5331:0.394	.	38	Q16762	THTR_HUMAN	L	38	ENSP00000385828:S38L;ENSP00000249042:S38L;ENSP00000400764:S38L	ENSP00000249042:S38L	S	-	2	0	TST	35744607	0.000000	0.05858	0.878000	0.34440	0.977000	0.68977	1.015000	0.29963	1.220000	0.43490	0.561000	0.74099	TCA	TST	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.672	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1	G			37414661	-1	no_errors	ENST00000249042	ensembl	human	known	70_37	missense	SNP	0.220	A	A	37414661	G	A	37414661	3	1	77	1	0	0	0	0	1	0	0	0	16704	1294	45	1	788	1	TST	22	37414661	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	714544	37414661	13889905	137	12148										
XRCC6	2547	genome.wustl.edu	37	chr22	42049549	42049549	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ctagggagctcaaccctgttCagtgctctgctcatcaagtg	10	12	5	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:42049549C>T	ENST00000359308.4	+	8	1801	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	XRCC6_ENST00000402580.3_Silent_p.F341F|XRCC6_ENST00000405878.1_Silent_p.F382F|XRCC6_ENST00000360079.3_Silent_p.F382F|XRCC6_ENST00000428575.2_Silent_p.F249F|XRCC6_ENST00000405506.1_Silent_p.F332F			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	382	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAACCCTGTTCAGTGCTCTGC	0.473								Non-homologous end-joining																																									0													106	108	107					22																	42049549		2203	4300	6503	SO:0001819	synonymous_variant	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1146C>T	22.37:g.42049549C>T			B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70	p.F382	ENST00000359308.4	37	c.1146	CCDS14021.1	22																																																																																			XRCC6	-	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,tigrfam_DNA_helicase_ATP-dep_Ku70		0.473	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	C	NM_001469		42049549	1	no_errors	ENST00000359308	ensembl	human	known	70_37	silent	SNP	0.989	T	T	42049549	C	T	42049549	2	4	77	1	0	0	0	0	0	0	0	1	17488	825	29	1		1	XRCC6	22	42049549	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	4634888	42049549	9255017	138	12149										
NDUFA6	4700	genome.wustl.edu	37	chr22	42483070	42483070	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggagggtcagttaccttaatGaccagaagatcaaccaccct	9	11	2	3			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:42483070G>C	ENST00000498737.2	-	2	459	c.327C>G	c.(325-327)gtC>gtG	p.V109V	RP1-257I20.14_ENST00000602718.1_RNA|NDUFA6_ENST00000602404.1_Silent_p.V83V|NDUFA6_ENST00000470753.1_Silent_p.V26V	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	109					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TTACCTTAATGACCAGAAGAT	0.428																																																	0													166	163	164					22																	42483070		2203	4300	6503	SO:0001819	synonymous_variant	4700			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.327C>G	22.37:g.42483070G>C			B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Silent	SNP	pfam_Complex1_LYR	p.V109	ENST00000498737.2	37	c.327	CCDS33656.1	22																																																																																			NDUFA6	-	pfam_Complex1_LYR		0.428	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	NDUFA6	HGNC	protein_coding	OTTHUMT00000322089.4	G	NM_002490		42483070	-1	no_errors	ENST00000498737	ensembl	human	known	70_37	silent	SNP	1.000	C	C	42483070	G	C	42483070	2	2	77	1	0	0	0	0	0	0	0	1	10293	1277	45	1		1	NDUFA6	22	42483070	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	433521	42483070	8821496	139	12150										
A4GALT	53947	genome.wustl.edu	37	chr22	43089412	43089412	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atgccgccgaacttccacatGagtgcgatcctggaggcgtc	12	13	0	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chr22:43089412G>A	ENST00000401850.1	-	2	1035	c.546C>T	c.(544-546)ctC>ctT	p.L182L	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.L182L|A4GALT_ENST00000381278.3_Silent_p.L182L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	182					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						ACTTCCACATGAGTGCGATCC	0.647																																																	0													63	56	59					22																	43089412		2203	4300	6503	SO:0001819	synonymous_variant	53947				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.546C>T	22.37:g.43089412G>A			B2R7C4|Q9P1X5	Silent	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.L182	ENST00000401850.1	37	c.546	CCDS14041.1	22																																																																																			A4GALT	-	pfam_GlycoTrfase_DXD_sugar-bd_CS		0.647	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	A4GALT	HGNC	protein_coding	OTTHUMT00000319917.1	G	NM_017436		43089412	-1	no_errors	ENST00000249005	ensembl	human	known	70_37	silent	SNP	0.992	A	A	43089412	G	A	43089412	2	1	77	1	0	0	0	0	0	0	0	1	6	1277	45	1		1	A4GALT	22	43089412	Silent	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	606342	43089412	8215154	140	12151										
DHRSX	207063	genome.wustl.edu	37	chrX	2184871	2184871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cactgtggccaggggacccaGactctttcagcgtatccaag	11	13	2	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:2184871G>A	ENST00000334651.5	-	5	558	c.506C>T	c.(505-507)tCt>tTt	p.S169F	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	169							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGGGGACCCAGACTCTTTCAG	0.552													.|||	2	0.000399361	0.0015	0	5008	,	,		20933	0		0	False		,,,				2504	0																0													388	346	361					X																	2184871		2203	4296	6499	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.506C>T	X.37:g.2184871G>A	ENSP00000334113:p.Ser169Phe		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.S169F	ENST00000334651.5	37	c.506	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029821	0.35797	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;D;D	0.86297	-1.29;-1.62;-2.1	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.182059	0.37809	U	0.001937	D	0.94453	0.8215	H	0.94658	3.565	0.25747	N	0.98509	D	0.89917	1.0	D	0.77557	0.99	D	0.87974	0.2738	10	0.87932	D	0	.	12.2461	0.54571	0.0:0.0:1.0:0.0	.	169	Q8N5I4	DHRSX_HUMAN	F	169;146;102	ENSP00000334113:S169F;ENSP00000391778:S146F;ENSP00000402741:S102F	ENSP00000334113:S169F	S	-	2	0	DHRSX	2194871	0.993000	0.37304	0.001000	0.08648	0.188000	0.23474	6.534000	0.73833	0.856000	0.35383	0.272000	0.19324	TCT	DHRSX	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase		0.552	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	G	NM_145177		2184871	-1	no_errors	ENST00000334651	ensembl	human	known	70_37	missense	SNP	0.991	A	A	2184871	G	A	2184871	3	1	77	1	0	0	0	0	1	0	0	0	4509	942	33	1	498	1	DHRSX	23	2184871	Missense_Mutation	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09		2184871	153085689	141	12152										
RS1	6247	genome.wustl.edu	37	chrX	18662565	18662565	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cttacccggttgtttccagtCtggtccttgtagtaaatcca	8	11	1	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:18662565C>T	ENST00000379984.3	-	5	547	c.507G>A	c.(505-507)caG>caA	p.Q169Q	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	169	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGTTTCCAGTCTGGTCCTTGT	0.567																																																	0													145	115	125					X																	18662565		2203	4300	6503	SO:0001819	synonymous_variant	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.507G>A	X.37:g.18662565C>T			Q0QD39	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q169	ENST00000379984.3	37	c.507	CCDS14187.1	X																																																																																			RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.567	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	C			18662565	-1	no_errors	ENST00000379984	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18662565	C	T	18662565	2	4	77	1	0	0	0	0	0	0	0	1	13723	912	32	1		1	RS1	23	18662565	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	16477694	18662565	136607995	142	12153										
APEX2	27301	genome.wustl.edu	37	chrX	55026966	55026966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	gccgtggggcgcattttggaCgagctggatgcggatatcgt	17	8	0	0	rs370230204		TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:55026966C>T	ENST00000374987.3	+	1	177	c.111C>T	c.(109-111)gaC>gaT	p.D37D	APEX2_ENST00000471758.1_3'UTR|PFKFB1_ENST00000545676.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	37					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCATTTTGGACGAGCTGGATG	0.547								Other BER factors																																									0													86	58	67					X																	55026966		2203	4300	6503	SO:0001819	synonymous_variant	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.111C>T	X.37:g.55026966C>T			Q9Y5X7	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.D37	ENST00000374987.3	37	c.111	CCDS14365.1	X																																																																																			APEX2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III		0.547	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	C			55026966	1	no_errors	ENST00000374987	ensembl	human	known	70_37	silent	SNP	0.960	T	T	55026966	C	T	55026966	2	4	77	1	0	0	0	0	0	0	0	1	770	535	19	2		2	APEX2	23	55026966	Silent	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	36364401	55026966	100243594	143	12154										
RNF128	79589	genome.wustl.edu	37	chrX	105970628	105970628	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	catccccatgtctcacccggGtgagtgcagctactagattg	10	13	1	2			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:105970628G>A	ENST00000255499.2	+	1	734		c.e1+1		RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase						negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCTCACCCGGGTGAGTGCAGC	0.562																																																	0													43	43	43					X																	105970628		2203	4300	6503	SO:0001630	splice_region_variant	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.484+1G>A	X.37:g.105970628G>A			A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Splice_Site	SNP	-	e1+1	ENST00000255499.2	37	c.484+1	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967447	0.34754	.	.	ENSG00000133135	ENST00000255499	.	.	.	4.0	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6443	0.45610	0.0:0.1915:0.8085:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF128	105857284	1.000000	0.71417	0.999000	0.59377	0.450000	0.32258	6.925000	0.75829	0.805000	0.34159	0.513000	0.50165	.	RNF128	-	-		0.562	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	G	NM_024539	Intron	105970628	1	no_errors	ENST00000255499	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	105970628	G	A	105970628	5	1	77	1	0	0	0	0	0	0	1	0	13466	1275	44	4	897	4	RNF128	23	105970628	Splice_Site	SNP	G	TCGA-EA-A3Y4-01A-51D-A243-09	50943662	105970628	49299932	144	12155										
CT47B1	643311	genome.wustl.edu	37	chrX	120008813	120008813	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	cggttcctctgtggcctcctCtgtgagcttctcctctgcgg	11	15	4	1			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:120008813C>T	ENST00000371311.3	-	1	966	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	238								p.K235_E243delKLTEEATEE(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						gtggcctcctctgtgagcttc	0.697																																																	1	Deletion - In frame(1)	ovary(1)											54	48	50					X																	120008813		692	1589	2281	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.712G>A	X.37:g.120008813C>T	ENSP00000360360:p.Glu238Lys		A6NM97	Missense_Mutation	SNP	NULL	p.E238K	ENST00000371311.3	37	c.712	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080733	0.20309	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.72	0.817	0.18773	.	.	.	.	.	T	0.14960	0.0361	L	0.27053	0.805	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.17048	-1.0382	8	0.66056	D	0.02	.	3.6579	0.08228	0.0:0.7417:0.0:0.2583	.	238	P0C2W7	CT47B_HUMAN	K	238	.	ENSP00000360360:E238K	E	-	1	0	CT47B1	119892841	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.873000	0.28052	0.208000	0.20626	0.149000	0.16113	GAG	CT47B1	-	NULL		0.697	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	C	NM_001145718		120008813	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.001	T	T	120008813	C	T	120008813	3	4	77	1	0	0	0	0	1	0	0	0	3994	922	32	1	195	1	CT47B1	23	120008813	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	14038185	120008813	35261747	145	12156										
CD99L2	83692	genome.wustl.edu	37	chrX	149963742	149963742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	atttcgatcatccagggcatCagccaagtcaaaatcatttc	6	11	4	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:149963742C>T	ENST00000370377.3	-	6	484	c.367G>A	c.(367-369)Gat>Aat	p.D123N	CD99L2_ENST00000355149.3_Missense_Mutation_p.D51N|CD99L2_ENST00000466436.1_Missense_Mutation_p.D74N|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	123					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGGCATCAGCCAAGTCA	0.453																																																	0													141	141	141					X																	149963742		2203	4300	6503	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.367G>A	X.37:g.149963742C>T	ENSP00000359403:p.Asp123Asn		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	pfam_CD99L2	p.D123N	ENST00000370377.3	37	c.367	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967788	0.53507	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.977	D;D;P	0.87578	0.998;0.993;0.856	T	0.68735	-0.5330	9	.	.	.	-29.9133	12.1698	0.54152	0.0:1.0:0.0:0.0	.	51;74;123	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	N	123;127;51;74;86	ENSP00000359403:D123N;ENSP00000347275:D51N;ENSP00000417697:D74N;ENSP00000391821:D86N	.	D	-	1	0	CD99L2	149714400	0.998000	0.40836	0.919000	0.36401	0.934000	0.57294	3.338000	0.52128	2.087000	0.62958	0.513000	0.50165	GAT	CD99L2	-	pfam_CD99L2		0.453	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	C	NM_031462		149963742	-1	no_errors	ENST00000370377	ensembl	human	known	70_37	missense	SNP	0.990	T	T	149963742	C	T	149963742	3	4	77	1	0	0	0	0	1	0	0	0	3056	826	29	1	445	1	CD99L2	23	149963742	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	29954929	149963742	5306818	146	12157										
FLNA	2316	genome.wustl.edu	37	chrX	153594730	153594730	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.547945205479452	80	2.23919896762108e-36	4.75634403772737	5.9919594997022	4.00847152126893	0.643189934813655	0.831858982358994	63	ggcgatgttgccactgggctCcaggccgggaccttgggctg	17	12	0	0			TCGA-EA-A3Y4-01A-51D-A243-09	TCGA-EA-A3Y4-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	22c5a391-cf06-4a8c-9a14-c3663eec3a5f	c151cb80-3624-46a8-b4c6-9141699c4cd7	g.chrX:153594730C>G	ENST00000369850.3	-	8	1410	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	FLNA_ENST00000360319.4_Missense_Mutation_p.E392Q|FLNA_ENST00000422373.1_Missense_Mutation_p.E392Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E392Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	392					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCACTGGGCTCCAGGCCGGGA	0.612																																																	0													74	75	75					X																	153594730		2135	4230	6365	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1174G>C	X.37:g.153594730C>G	ENSP00000358866:p.Glu392Gln		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E392Q	ENST00000369850.3	37	c.1174	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	4.544	0.100945	0.08731	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.71	3.85	0.44370	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.166819	0.40908	D	0.000987	D	0.86818	0.6024	L	0.59436	1.845	0.80722	D	1	B;B	0.31705	0.336;0.153	B;B	0.40901	0.343;0.256	D	0.83710	0.0187	10	0.41790	T	0.15	.	12.5519	0.56231	0.0:0.9162:0.0:0.0838	.	392;392	P21333-2;P21333	.;FLNA_HUMAN	Q	392;365;392;392;392	ENSP00000353467:E392Q;ENSP00000416926:E392Q;ENSP00000358866:E392Q;ENSP00000358863:E392Q	ENSP00000358863:E392Q	E	-	1	0	FLNA	153247924	1.000000	0.71417	0.998000	0.56505	0.077000	0.17291	7.809000	0.86057	0.797000	0.33971	-0.370000	0.07254	GAG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153594730	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153594730	C	G	153594730	3	3	77	1	0	0	0	0	1	0	0	0	5951	864	30	1	6933	1	FLNA	23	153594730	Missense_Mutation	SNP	C	TCGA-EA-A3Y4-01A-51D-A243-09	3630988	153594730	1675830	147	12158										
TP73	7161	genome.wustl.edu	37	chr1	3649571	3649571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gacgagtgggcggacttcggCttcgacctgcccgactgcaa	14	13	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:3649571C>T	ENST00000378295.4	+	14	1994	c.1839C>T	c.(1837-1839)ggC>ggT	p.G613G	TP73_ENST00000357733.3_Silent_p.G532G|TP73_ENST00000603362.1_Silent_p.G532G|TP73_ENST00000378285.1_3'UTR|TP73-AS1_ENST00000452079.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378290.4_Silent_p.G542G|TP73_ENST00000346387.4_Silent_p.G517G|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000378288.4_Silent_p.G564G|TP73_ENST00000604479.1_Silent_p.G517G	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	613					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGGACTTCGGCTTCGACCTGC	0.701																																																	0													14	18	17					1																	3649571		2161	4234	6395	SO:0001819	synonymous_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1839C>T	1.37:g.3649571C>T			B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G613	ENST00000378295.4	37	c.1839	CCDS49.1	1																																																																																			TP73	-	NULL		0.701	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3649571	1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3649571	C	T	3649571	2	4	78	1	0	0	0	0	0	0	0	1	16424	784	28	4		4	TP73	1	3649571	Silent	SNP	C	TCGA-EA-A410-01A-11D-A243-09		3649571	245601050	1	12159										
MTHFR	4524	genome.wustl.edu	37	chr1	11854494	11854495	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	NA	0	1	1	0	ttcttcactggtcagctcctINSccccccacatcttcagcagc							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:11854494_11854495insC	ENST00000376592.1	-	7	1395_1396	c.1267_1268insG	c.(1267-1269)gagfs	p.E423fs	MTHFR_ENST00000376590.3_Frame_Shift_Ins_p.E423fs|MTHFR_ENST00000376583.3_Frame_Shift_Ins_p.E464fs|MTHFR_ENST00000376585.1_Frame_Shift_Ins_p.E464fs			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	423					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGTCAGCTCCTCCCCCCACATC	0.535																																																	0																																										SO:0001589	frameshift_variant	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1268dupG	1.37:g.11854500_11854500dupC	ENSP00000365777:p.Glu423fs		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Frame_Shift_Ins	INS	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.E464fs	ENST00000376592.1	37	c.1391_1390	CCDS137.1	1																																																																																			MTHFR	-	NULL		0.535	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	-	NM_005957		11854495	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	11854495	-	C	11854494	7	5	78	1	0	1	1	0	0	0	0	0	9954	1551	54	0	722	0	MTHFR	1	11854494	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	8204923	11854494	237396127	2	12160										
CLCNKA	1187	genome.wustl.edu	37	chr1	16356551	16356552	+	Frame_Shift_Ins	INS	-	-	G													0	0	1	0	NA	0	1	1	0	ttaccaatcccatcatgcccINSggggggtatgctctggcagg					rs141107527		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:16356551_16356552insG	ENST00000331433.4	+	14	1408_1409	c.1389_1390insG	c.(1390-1392)gggfs	p.G464fs	CLCNKA_ENST00000375692.1_Frame_Shift_Ins_p.G464fs|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Frame_Shift_Ins_p.G421fs|CLCNKA_ENST00000420078.1_Frame_Shift_Ins_p.G464fs			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	464					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.Y466fs*25(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCATCATGCCCGGGGGGTATGC	0.653																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1395dupG	1.37:g.16356557_16356557dupG	ENSP00000332771:p.Gly464fs		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Frame_Shift_Ins	INS	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.Y465fs	ENST00000331433.4	37	c.1389_1390	CCDS167.1	1																																																																																			CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.653	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	-			16356552	1	no_errors	ENST00000331433	ensembl	human	known	70_37	frame_shift_ins	INS	0.169:0.840	G	G	16356552	-	G	16356551	7	5	78	1	0	1	1	0	0	0	0	0	3474	639	23	0	1439	0	CLCNKA	1	16356551	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	4502057	16356551	232894070	3	12161										
ZSCAN20	7579	genome.wustl.edu	37	chr1	33960712	33960712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caccctggccaaccaccagcGcacccacactggagagaagc	9	18	0	1	rs200183584		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:33960712G>A	ENST00000361328.3	+	8	2921	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	923					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCACCAGCGCACCCACACT	0.517																																																	0													66	78	74					1																	33960712		2150	4272	6422	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2768G>A	1.37:g.33960712G>A	ENSP00000355053:p.Arg923His		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R923H	ENST00000361328.3	37	c.2768	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453592	0.84209	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000082	T	0.76933	0.4057	M	0.69523	2.12	0.41843	D	0.990138	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	T	0.79852	-0.1628	9	0.87932	D	0	-11.1013	12.5925	0.56451	0.0806:0.0:0.9194:0.0	.	922;923	P17040-3;P17040	.;ZSC20_HUMAN	H	923;857;857	.	ENSP00000324450:R923H	R	+	2	0	ZSCAN20	33733299	0.965000	0.33210	0.998000	0.56505	0.948000	0.59901	4.881000	0.63114	1.376000	0.46267	0.655000	0.94253	CGC	ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	G	NM_145238		33960712	1	no_errors	ENST00000326544	ensembl	human	known	70_37	missense	SNP	0.999	A	A	33960712	G	A	33960712	3	1	78	1	0	0	0	0	1	0	0	0	18262	1087	38	2	2794	2	ZSCAN20	1	33960712	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	17604161	33960712	215289909	4	12162										
FAF1	11124	genome.wustl.edu	37	chr1	50956315	50956316	+	Frame_Shift_Ins	INS	-	-	TC													0	0	1	0	NA	0	1	1	0	caaacgaaactgttctgccaINStctctctctcgtgagcttcc					rs200550139		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:50956315_50956316insTC	ENST00000396153.2	-	17	2048_2049	c.1597_1598insGA	c.(1597-1599)atgfs	p.M533fs	FAF1_ENST00000545823.1_Frame_Shift_Ins_p.M291fs|FAF1_ENST00000371778.4_Frame_Shift_Ins_p.M533fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	533					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTGTTCTGCCATCTCTCTCTCG	0.381																																																	0																																										SO:0001589	frameshift_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1596_1597dupGA	1.37:g.50956324_50956325dupTC	ENSP00000379457:p.Met533fs		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Frame_Shift_Ins	INS	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.M533fs	ENST00000396153.2	37	c.1598_1597	CCDS554.1	1																																																																																			FAF1	-	NULL		0.381	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	-	NM_007051		50956316	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TC	TC	50956316	-	TC	50956315	7	5	78	1	0	1	1	0	0	0	0	0	5384	217	8	0	366	0	FAF1	1	50956315	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	16995603	50956315	198294306	5	12163										
CLCC1	23155	genome.wustl.edu	37	chr1	109479990	109479990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggaggttcgctctcaggaccGcctatatgtctcagcacatg	11	12	2	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:109479990G>A	ENST00000369971.2	-	10	1221	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	CLCC1_ENST00000369968.2_Silent_p.G179G|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369969.2_Silent_p.G243G|CLCC1_ENST00000415331.1_Silent_p.G314G|CLCC1_ENST00000356970.2_Silent_p.G364G|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Silent_p.G179G|CLCC1_ENST00000369970.3_Silent_p.G314G|CLCC1_ENST00000302500.4_Silent_p.G243G	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	364						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCTCAGGACCGCCTATATGTC	0.478																																																	0													62	65	64					1																	109479990		2203	4300	6503	SO:0001819	synonymous_variant	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1092C>T	1.37:g.109479990G>A			O94861|Q8WYP8|Q8WYP9|Q9BU25	Silent	SNP	pfam_Chloride_chnl_CLIC-like	p.G364	ENST00000369971.2	37	c.1092	CCDS41362.1	1																																																																																			CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.478	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	G	NM_015127		109479990	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	silent	SNP	0.032	A	A	109479990	G	A	109479990	2	1	78	1	0	0	0	0	0	0	0	1	3465	1074	38	2		2	CLCC1	1	109479990	Silent	SNP	G	TCGA-EA-A410-01A-11D-A243-09	58523675	109479990	139770631	6	12164										
CRB1	23418	genome.wustl.edu	37	chr1	197313486	197313487	+	Frame_Shift_Ins	INS	-	-	G													0	0	1	0	NA	0	1	1	0	gcaacttgtcaggatgctctINSgggggcctatttctgcgact							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:197313486_197313487insG	ENST00000367400.3	+	3	863_864	c.728_729insG	c.(727-732)ctggggfs	p.LG243fs	CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Frame_Shift_Ins_p.LG243fs|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Frame_Shift_Ins_p.LG174fs	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	243	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGATGCTCTGGGGGCCTATT	0.475																																																	0																																										SO:0001589	frameshift_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.733dupG	1.37:g.197313491_197313491dupG	ENSP00000356370:p.Leu243fs		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.A245fs	ENST00000367400.3	37	c.728_729	CCDS1390.1	1																																																																																			CRB1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.475	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	NM_201253		197313487	1	no_errors	ENST00000367400	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G	G	197313487	-	G	197313486	7	5	78	1	0	1	1	0	0	0	0	0	3853	1580	55	0	738	0	CRB1	1	197313486	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	87833496	197313486	51937135	7	12165										
ENAH	55740	genome.wustl.edu	37	chr1	225702424	225702424	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtggggcaggaggtggtggAggaggagggggtacttgatt	24	2	0	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:225702424A>T	ENST00000366844.3	-	7	1543	c.1092T>A	c.(1090-1092)ccT>ccA	p.P364P	ENAH_ENST00000366843.2_Silent_p.P364P|ENAH_ENST00000284563.6_Silent_p.P611P	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	364	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gaggtggtggaggaggagggg	0.627																																																	0													18	19	19					1																	225702424		2164	4205	6369	SO:0001819	synonymous_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1092T>A	1.37:g.225702424A>T			D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.P364	ENST00000366844.3	37	c.1092	CCDS31041.1	1																																																																																			ENAH	-	NULL		0.627	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	A	NM_018212		225702424	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	silent	SNP	0.036	T	T	225702424	A	T	225702424	2	4	78	1	0	0	0	0	0	0	0	1	5123	291	11	5		5	ENAH	1	225702424	Silent	SNP	A	TCGA-EA-A410-01A-11D-A243-09	28388938	225702424	23548197	8	12166										
FBXO11	80204	genome.wustl.edu	37	chr2	48061746	48061747	+	Frame_Shift_Ins	INS	-	-	AT													0	0	1	0	NA	0	1	1	0	tcatggtgattggagattcaINSatatatatccattcatcagt							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:48061746_48061747insAT	ENST00000403359.3	-	7	977_978	c.905_906insAT	c.(904-906)attfs	p.I302fs	FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000480038.1_5'Flank|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.I218fs|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.I218fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	302					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGGAGATTCAATATATATCCA	0.307			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001589	frameshift_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.904_905dupAT	2.37:g.48061753_48061754dupAT	ENSP00000384823:p.Ile302fs		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.E303fs	ENST00000403359.3	37	c.906_905	CCDS54357.1	2																																																																																			FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like		0.307	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	-	NM_012167, NM_018693, NM_025133		48061747	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	AT	AT	48061747	-	AT	48061746	7	5	78	1	0	1	1	0	0	0	0	0	5745	126	5	0	2035	0	FBXO11	2	48061746	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		48061746	195137627	9	12167										
CCDC74B	91409	genome.wustl.edu	37	chr2	130899903	130899903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctccgttgatgcagacccagCgagcgcccaagggagcagag	14	13	0	3			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:130899903C>T	ENST00000310463.6	-	3	484	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.R218H	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	116										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCAGACCCAGCGAGCGCCCAA	0.642																																																	0													10	13	12					2																	130899903		2172	4238	6410	SO:0001583	missense	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.347G>A	2.37:g.130899903C>T	ENSP00000308873:p.Arg116His		Q6NW18	Missense_Mutation	SNP	NULL	p.R218H	ENST00000310463.6	37	c.653	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528347	0.27299	.	.	ENSG00000152076	ENST00000310463;ENST00000392984	T;T	0.27890	1.82;1.64	1.54	0.56	0.17279	.	654.833000	0.00789	U	0.001320	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;D	0.60160	0.0;0.987	B;B	0.32022	0.0;0.139	T	0.17684	-1.0361	10	0.45353	T	0.12	.	3.9873	0.09521	0.0:0.7484:0.0:0.2516	.	218;116	E7ESC5;Q96LY2	.;CC74B_HUMAN	H	116;218	ENSP00000308873:R116H;ENSP00000376710:R218H	ENSP00000308873:R116H	R	-	2	0	CCDC74B	130616373	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.208000	0.09371	-0.013000	0.14199	0.454000	0.30748	CGC	CCDC74B	-	NULL		0.642	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	C	NM_207310		130899903	-1	no_errors	ENST00000392984	ensembl	human	known	70_37	missense	SNP	0.001	T	T	130899903	C	T	130899903	3	4	78	1	0	0	0	0	1	0	0	0	2853	768	27	2	819	2	CCDC74B	2	130899903	Missense_Mutation	SNP	C	TCGA-EA-A410-01A-11D-A243-09	82838157	130899903	112299470	10	12168										
CCDC74A	90557	genome.wustl.edu	37	chr2	132288203	132288203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctctgctcccttgggcgctcGctgggtctgcatcaacggag	13	14	3	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:132288203G>A	ENST00000295171.6	+	3	485	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.R218H	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	116										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTGGGCGCTCGCTGGGTCTGC	0.647																																																	0													10	17	14					2																	132288203		2137	4238	6375	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.347G>A	2.37:g.132288203G>A	ENSP00000295171:p.Arg116His		Q6P4I5	Missense_Mutation	SNP	NULL	p.R116H	ENST00000295171.6	37	c.347	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	8.248	0.808460	0.16467	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.60040	1.82;0.22	1.57	-3.14	0.05250	.	5.027120	0.01532	U	0.018845	T	0.43033	0.1229	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.50970	0.655	T	0.28459	-1.0043	10	0.49607	T	0.09	.	3.3461	0.07136	0.0:0.2752:0.3857:0.3391	.	116	Q96AQ1	CC74A_HUMAN	H	116;218	ENSP00000295171:R116H;ENSP00000444610:R218H	ENSP00000295171:R116H	R	+	2	0	CCDC74A	132004673	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.018000	0.12568	-1.037000	0.03283	0.194000	0.17425	CGC	CCDC74A	-	NULL		0.647	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	G	NM_138770		132288203	1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.000	A	A	132288203	G	A	132288203	3	1	78	1	0	0	0	0	1	0	0	0	2852	1087	38	2	357	2	CCDC74A	2	132288203	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	1388300	132288203	110911170	11	12169										
RBM43	375287	genome.wustl.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													0	0	1	0	NA	0	1	1	0	aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:152112048delT	ENST00000331426.5	-	2	364	c.213delA	c.(211-213)aaa>aa	p.K71fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGGAAATACCTTTTTTTTCTT	0.289																																																	0										9,4257		4,1,2128	78	82	81			4.6	1	2		80	6,8248		2,2,4123	no	frameshift-near-splice	RBM43	NM_198557.2		6,3,6251	A1A1,A1R,RR		0.0727,0.211,0.1198			152112048	15,12505	2203	4300	6503	SO:0001630	splice_region_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.214+1A>-	2.37:g.152112048delT			B2RMT5	Frame_Shift_Del	DEL	pfscan_RRM_dom	p.V72fs	ENST00000331426.5	37	c.213	CCDS2191.1	2																																																																																			RBM43	-	pfscan_RRM_dom		0.289	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2	T	NM_198557	Frame_Shift_Del	152112048	-1	no_errors	ENST00000331426	ensembl	human	known	70_37	frame_shift_del	DEL	0.948	-	-	152112048	T	-	152112048	8	5	78	1	0	1	0	1	0	0	1	0	13167	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-EA-A410-01A-11D-A243-09	19823845	152112048	91087325	12	12170										
TADA3	10474	genome.wustl.edu	37	chr3	9831553	9831553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttccagtttctgcttcttgGgcttcccatgtttgggggga	12	10	2	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:9831553G>T	ENST00000301964.2	-	3	860	c.302C>A	c.(301-303)cCc>cAc	p.P101H	ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000440161.1_Missense_Mutation_p.P101H|TADA3_ENST00000343450.2_Missense_Mutation_p.P101H|ARPC4_ENST00000287613.7_5'Flank|ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000492635.1_5'UTR	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	101					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CTGCTTCTTGGGCTTCCCATG	0.547																																																	0													80	75	76					3																	9831553		2203	4300	6503	SO:0001583	missense	10474			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.302C>A	3.37:g.9831553G>T	ENSP00000307684:p.Pro101His		Q6FI83|Q9UFS2	Missense_Mutation	SNP	pfam_Histone_AcTrfase_su3	p.P101H	ENST00000301964.2	37	c.302	CCDS2583.1	3	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193441	0.58017	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.61218	1.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57757	-0.7756	9	0.44086	T	0.13	-8.7753	14.3783	0.66895	0.0713:0.0:0.9287:0.0	.	101	O75528	TADA3_HUMAN	H	101	.	ENSP00000307684:P101H	P	-	2	0	TADA3	9806553	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.049000	0.93837	1.333000	0.45449	-0.140000	0.14226	CCC	TADA3	-	NULL		0.547	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1	G			9831553	-1	no_errors	ENST00000301964	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9831553	G	T	9831553	3	4	78	1	0	0	0	0	1	0	0	0	15542	1232	43	4	1028	4	TADA3	3	9831553	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09		9831553	188190877	13	12171										
DYNC1LI1	51143	genome.wustl.edu	37	chr3	32571049	32571050	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	acctttcatgtttggatcaaINSttttttttgacccagcagga							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:32571049_32571050insT	ENST00000273130.4	-	11	1391_1392	c.1288_1289insA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Ins_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GTTTGGATCAATTTTTTTTGAC	0.401																																																	0																																										SO:0001589	frameshift_variant	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1289dupA	3.37:g.32571057_32571057dupT	ENSP00000273130:p.Ile430fs		A2RRG7|Q53HC8|Q53HK7	Frame_Shift_Ins	INS	pfam_Dynein_light_int_chain	p.I430fs	ENST00000273130.4	37	c.1289_1288	CCDS2654.1	3																																																																																			DYNC1LI1	-	pfam_Dynein_light_int_chain		0.401	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	-	NM_016141		32571050	-1	no_errors	ENST00000273130	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	32571050	-	T	32571049	7	5	78	1	0	1	1	0	0	0	0	0	4854	101	4	0	294	0	DYNC1LI1	3	32571049	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	22739496	32571049	165451381	14	12172										
SERPINI2	5276	genome.wustl.edu	37	chr3	167185055	167185055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggcagagaaaaatgacttcAgtacaaaaaattcttcccct	6	9	2	2			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:167185055A>G	ENST00000476257.1	-	4	564	c.266T>C	c.(265-267)cTg>cCg	p.L89P	SERPINI2_ENST00000264677.4_Missense_Mutation_p.L89P|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L89P|SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000471111.1_Missense_Mutation_p.L89P			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	89					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAATGACTTCAGTACAAAAAA	0.328																																																	0													58	62	60					3																	167185055		2195	4298	6493	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.266T>C	3.37:g.167185055A>G	ENSP00000420621:p.Leu89Pro			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L89P	ENST00000476257.1	37	c.266	CCDS3200.1	3	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041985	0.55003	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.41	5.41	0.78517	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.88149	0.6359	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.89878	0.4028	10	0.87932	D	0	.	15.4555	0.75311	1.0:0.0:0.0:0.0	.	89;89	B4DDY9;O75830	.;SPI2_HUMAN	P	89	ENSP00000420621:L89P;ENSP00000417692:L89P;ENSP00000264677:L89P;ENSP00000419407:L89P;ENSP00000417752:L89P	ENSP00000264677:L89P	L	-	2	0	SERPINI2	168667749	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	6.357000	0.73051	2.067000	0.61834	0.533000	0.62120	CTG	SERPINI2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.328	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	A	NM_006217		167185055	-1	no_errors	ENST00000264677	ensembl	human	known	70_37	missense	SNP	1.000	G	G	167185055	A	G	167185055	3	3	78	1	0	0	0	0	1	0	0	0	14149	188	7	5	979	5	SERPINI2	3	167185055	Missense_Mutation	SNP	A	TCGA-EA-A410-01A-11D-A243-09	134614006	167185055	30837375	15	12173										
B3GNT5	84002	genome.wustl.edu	37	chr3	182987673	182987674	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	gttttttagcgagcctcatgINStttttttgggaaccaatcga							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:182987673_182987674insT	ENST00000326505.3	+	2	617_618	c.87_88insT	c.(88-90)tttfs	p.F30fs	B3GNT5_ENST00000460419.1_Frame_Shift_Ins_p.F30fs|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Frame_Shift_Ins_p.F30fs	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	30					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGGA	0.356																																																	0																																										SO:0001589	frameshift_variant	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.94dupT	3.37:g.182987680_182987680dupT	ENSP00000316173:p.Phe30fs		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Frame_Shift_Ins	INS	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.W31fs	ENST00000326505.3	37	c.87_88	CCDS3244.1	3																																																																																			B3GNT5	-	NULL		0.356	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	-	NM_032047		182987674	1	no_errors	ENST00000326505	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.912	T	T	182987674	-	T	182987673	7	5	78	1	0	1	1	0	0	0	0	0	1261	1377	48	0	89	0	B3GNT5	3	182987673	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	15802618	182987673	15034757	16	12174										
RG9MTD2	93587	genome.wustl.edu	37	chr4	100480442	100480443	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	gatcttcatttatgccttgcINStttttgtcaacattagaagt							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:100480442_100480443insT	ENST00000273962.3	-	2	365_366	c.53_54insA	c.(52-54)aagfs	p.K18fs	TRMT10A_ENST00000394877.3_Frame_Shift_Ins_p.K18fs|TRMT10A_ENST00000394876.2_Frame_Shift_Ins_p.K18fs	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	18					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TTATGCCTTGCTTTTTGTCAAC	0.337																																																	0																																										SO:0001589	frameshift_variant	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.54dupA	4.37:g.100480447_100480447dupT	ENSP00000273962:p.Lys18fs		B2R8X7|Q9Y2T9	Frame_Shift_Ins	INS	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.Q19fs	ENST00000273962.3	37	c.54_53	CCDS3650.1	4																																																																																			TRMT10A	-	pirsf_tRNA_MeTfrase_TRM10		0.337	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	-	NM_152292		100480443	-1	no_errors	ENST00000273962	ensembl	human	known	70_37	frame_shift_ins	INS	0.261:0.390	T	T	100480443	-	T	100480442	7	5	78	1	0	1	1	0	0	0	0	0	13302	796	28	0	993	0	RG9MTD2	4	100480442	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		100480442	90673834	17	12175										
INTS12	57117	genome.wustl.edu	37	chr4	106616790	106616791	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	gctcttgcttaatggaaatgINSttttttgtgcttgaaatttt							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:106616790_106616791insT	ENST00000451321.2	-	3	670_671	c.191_192insA	c.(190-192)aacfs	p.N64fs	INTS12_ENST00000340139.5_Frame_Shift_Ins_p.N64fs|INTS12_ENST00000394735.1_Frame_Shift_Ins_p.N64fs	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	64					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)	p.N64fs*29(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TAATGGAAATGTTTTTTGTGCT	0.337																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.192dupA	4.37:g.106616796_106616796dupT	ENSP00000415433:p.Asn64fs		B2RC48|Q3B6Z3|Q9HD71	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.N64fs	ENST00000451321.2	37	c.192_191	CCDS3671.1	4																																																																																			INTS12	-	NULL		0.337	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	-	NM_020395		106616791	-1	no_errors	ENST00000340139	ensembl	human	known	70_37	frame_shift_ins	INS	0.008:0.124	T	T	106616791	-	T	106616790	7	5	78	1	0	1	1	0	0	0	0	0	7797	1368	48	0	1216	0	INTS12	4	106616790	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	6136348	106616790	84537486	18	12176										
IRX4	50805	genome.wustl.edu	37	chr5	1882016	1882016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccccatagacgcccagcgccGcggccgagttgagctcgtgg	14	16	0	2			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:1882016G>A	ENST00000505790.1	-	3	659	c.203C>T	c.(202-204)gCg>gTg	p.A68V	IRX4_ENST00000231357.2_Missense_Mutation_p.A68V|CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_Missense_Mutation_p.A68V	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	68					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCCCAGCGCCGCGGCCGAGTT	0.711																																																	0													7	9	9					5																	1882016		2131	4179	6310	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.203C>T	5.37:g.1882016G>A	ENSP00000423161:p.Ala68Val		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A68V	ENST00000505790.1	37	c.203	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	g	31	5.071536	0.93950	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;D	0.84370	-0.23;-0.23;-0.23;-1.84	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	D	0.89839	0.6831	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88888	0.3344	10	0.34782	T	0.22	-21.7731	15.0184	0.71605	0.0:0.0:1.0:0.0	.	68	P78413	IRX4_HUMAN	V	68	ENSP00000231357:A68V;ENSP00000423161:A68V;ENSP00000424235:A68V;ENSP00000421772:A68V	ENSP00000231357:A68V	A	-	2	0	IRX4	1935016	1.000000	0.71417	0.985000	0.45067	0.810000	0.45777	7.999000	0.88496	1.896000	0.54893	0.461000	0.40582	GCG	IRX4	-	NULL		0.711	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	G	NM_016358		1882016	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1882016	G	A	1882016	3	1	78	1	0	0	0	0	1	0	0	0	7866	1087	38	2	1372	2	IRX4	5	1882016	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09		1882016	179033244	19	12177										
TAS2R1	50834	genome.wustl.edu	37	chr5	9630024	9630024	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	NA	0	1	1	0	aaggagatccagcggagccaTttttctgtgcttgatcaagt							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:9630024delT	ENST00000382492.2	-	1	439	c.121delA	c.(121-123)atgfs	p.M41fs	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	41					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCGGAGCCATTTTTCTGTGC	0.373																																																	0													59	63	62					5																	9630024		2203	4300	6503	SO:0001589	frameshift_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.121delA	5.37:g.9630024delT	ENSP00000371932:p.Met41fs		Q646G8	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.M41fs	ENST00000382492.2	37	c.121	CCDS3876.1	5																																																																																			TAS2R1	-	pfam_TAS2_rcpt		0.373	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	T			9630024	-1	no_errors	ENST00000382492	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	9630024	T	-	9630024	7	5	78	1	0	1	0	1	0	0	0	0	15595	1493	52	0	782	0	TAS2R1	5	9630024	Frame_Shift_Del	DEL	T	TCGA-EA-A410-01A-11D-A243-09	7748008	9630024	171285236	20	12178										
SLC27A6	28965	genome.wustl.edu	37	chr5	128368800	128368800	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctggtaattgctttacaggAaaaaatggaagcaacaggaa	10	6	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:128368800A>G	ENST00000262462.4	+	10	2695	c.1685A>G	c.(1684-1686)gAa>gGa	p.E562G	SLC27A6_ENST00000395266.1_Splice_Site_p.E562G|SLC27A6_ENST00000506176.1_Splice_Site_p.E562G			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	562					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTTTACAGGAAAAAATGGAA	0.289																																																	0													45	44	44					5																	128368800		2203	4295	6498	SO:0001630	splice_region_variant	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1684-1A>G	5.37:g.128368800A>G			Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E562G	ENST00000262462.4	37	c.1685	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	A	12.42	1.933565	0.34096	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52754	0.65;0.65;0.65	3.85	2.65	0.31530	.	0.187745	0.45867	D	0.000323	T	0.39306	0.1073	L	0.56124	1.755	0.34014	D	0.651789	B	0.12630	0.006	B	0.15870	0.014	T	0.45527	-0.9255	9	.	.	.	-0.2019	9.7551	0.40498	0.9132:0.0:0.0868:0.0	.	562	Q9Y2P4	S27A6_HUMAN	G	562	ENSP00000262462:E562G;ENSP00000378684:E562G;ENSP00000421024:E562G	.	E	+	2	0	SLC27A6	128396699	0.999000	0.42202	1.000000	0.80357	0.891000	0.51852	2.775000	0.47702	0.807000	0.34208	0.477000	0.44152	GAA	SLC27A6	-	NULL		0.289	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1	A	NM_014031	Missense_Mutation	128368800	1	no_errors	ENST00000262462	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128368800	A	G	128368800	5	3	78	1	0	0	0	0	0	0	1	0	14560	260	9	5	1723	5	SLC27A6	5	128368800	Splice_Site	SNP	A	TCGA-EA-A410-01A-11D-A243-09	118738776	128368800	52546460	21	12179										
C5orf54	63920	genome.wustl.edu	37	chr5	159820772	159820773	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	atgtccgagaaacgaggaacINStttttttgaaatagccacac							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:159820772_159820773insT	ENST00000408953.3	-	2	2232_2233	c.1725_1726insA	c.(1723-1728)aaagttfs	p.V576fs	C5orf54_ENST00000523213.1_Frame_Shift_Ins_p.V576fs	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aaacgaggaactttttttgaaa	0.342																																																	0																																										SO:0001589	frameshift_variant	63920																														ENST00000408953.3:c.1726dupA	5.37:g.159820779_159820779dupT	ENSP00000386184:p.Val576fs			Frame_Shift_Ins	INS	superfamily_RNaseH-like_dom	p.V575fs	ENST00000408953.3	37	c.1726_1725	CCDS34283.1	5																																																																																			C5orf54	-	NULL		0.342	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	-			159820773	-1	no_errors	ENST00000408953	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	159820773	-	T	159820772	7	5	78	1	0	1	1	0	0	0	0	0	2315	565	20	0	62	0	C5orf54	5	159820772	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	31451972	159820772	21094488	22	12180										
SNRNP48	154007	genome.wustl.edu	37	chr6	7602865	7602865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tctttcattagacaatagtcGaaaaagtccaaaatcctacc	4	10	2	1	rs35681346		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:7602865G>A	ENST00000342415.5	+	6	664	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	202					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GACAATAGTCGAAAAAGTCCA	0.294																																																	0													49	53	52					6																	7602865		2203	4299	6502	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.605G>A	6.37:g.7602865G>A	ENSP00000339834:p.Arg202Gln		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.R202Q	ENST00000342415.5	37	c.605	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700804	0.15172	.	.	ENSG00000168566	ENST00000342415	T	0.27890	1.64	4.9	3.95	0.45737	.	0.060510	0.64402	D	0.000003	T	0.02230	0.0069	N	0.01134	-0.995	0.35085	D	0.763735	B	0.16802	0.019	B	0.09377	0.004	T	0.46105	-0.9215	10	0.02654	T	1	-5.9964	5.7929	0.18371	0.2062:0.0:0.7938:0.0	.	202	Q6IEG0	SNR48_HUMAN	Q	202	ENSP00000339834:R202Q	ENSP00000339834:R202Q	R	+	2	0	SNRNP48	7547864	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.970000	0.49240	2.527000	0.85204	0.563000	0.77884	CGA	SNRNP48	-	NULL		0.294	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	G	NM_152551		7602865	1	no_errors	ENST00000342415	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7602865	G	A	7602865	3	1	78	1	0	0	0	0	1	0	0	0	14887	1058	37	1	627	1	SNRNP48	6	7602865	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09		7602865	163512202	23	12181										
HIVEP1	3096	genome.wustl.edu	37	chr6	12123569	12123570	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	NA	0	1	1	0	aaaagtgataggaatctcccINSaagaggaaagtcacccttct							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:12123569_12123570insA	ENST00000379388.2	+	4	3873_3874	c.3541_3542insA	c.(3541-3543)caafs	p.Q1181fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1181					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAATCTCCCAAGAGGAAAGT	0.505																																																	0																																										SO:0001589	frameshift_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3543dupA	6.37:g.12123571_12123571dupA	ENSP00000368698:p.Gln1181fs		B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1182fs	ENST00000379388.2	37	c.3541_3542	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.505	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	NM_002114		12123570	1	no_errors	ENST00000379388	ensembl	human	known	70_37	frame_shift_ins	INS	0.115:0.057	A	A	12123570	-	A	12123569	7	5	78	1	0	1	1	0	0	0	0	0	7206	595	21	0	3551	0	HIVEP1	6	12123569	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	4520704	12123569	158991498	24	12182										
MSH5	4439	genome.wustl.edu	37	chr6	31729722	31729722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcctgacaagcttgtggctcGtggcaaggaggtgatgagat	15	7	0	3			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:31729722G>A	ENST00000375755.3	+	23	2595	c.2309G>A	c.(2308-2310)cGt>cAt	p.R770H	MSH5_ENST00000395853.1_Missense_Mutation_p.R444H|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000431848.2_Missense_Mutation_p.R469H|MSH5_ENST00000375703.3_Missense_Mutation_p.R771H|MSH5_ENST00000375750.3_Missense_Mutation_p.R770H|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R787H|MSH5_ENST00000375742.3_Missense_Mutation_p.R787H|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000534153.4_Missense_Mutation_p.R787H|MSH5-SAPCD1_ENST00000491552.1_Intron|SAPCD1_ENST00000425424.1_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	770					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTTGTGGCTCGTGGCAAGGAG	0.547								Direct reversal of damage;Mismatch excision repair (MMR)																																									0													68	73	71					6																	31729722		1511	2709	4220	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2309G>A	6.37:g.31729722G>A	ENSP00000364908:p.Arg770His		B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R787H	ENST00000375755.3	37	c.2360	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.213510	0.95069	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000431848;ENST00000395853;ENST00000429846	D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.86	5.86	0.93980	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	M	0.87758	2.905	0.43164	D	0.994959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.93121	0.6525	9	0.87932	D	0	-8.9732	15.6756	0.77316	0.0:0.0:1.0:0.0	.	770;771;787	O43196;O43196-2;O43196-3	MSH5_HUMAN;.;.	H	770;787;770;787;771;469;444;92	ENSP00000364908:R770H;ENSP00000364894:R787H;ENSP00000364903:R770H;ENSP00000431693:R787H;ENSP00000364855:R771H;ENSP00000416784:R469H;ENSP00000379194:R444H;ENSP00000406849:R92H	ENSP00000364855:R771H	R	+	2	0	MSH5	31837701	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.075000	0.64407	2.774000	0.95407	0.655000	0.94253	CGT	MSH5	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C		0.547	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	G			31729722	1	no_errors	ENST00000375742	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31729722	G	A	31729722	3	1	78	1	0	0	0	0	1	0	0	0	9896	1145	40	2	2449	2	MSH5	6	31729722	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	19606153	31729722	139385345	25	12183										
TNXB	7148	genome.wustl.edu	37	chr6	32049424	32049424	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	ctgctccaggaactcagggcGggggggctcctctttcctct					rs376472382		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:32049424delG	ENST00000375244.3	-	10	3964	c.3763delC	c.(3763-3765)cgcfs	p.R1255fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.R1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACTCAGGGCGGGGGGGCTCC	0.637																																																	0													11	11	11					6																	32049424		1865	4099	5964	SO:0001589	frameshift_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3763delC	6.37:g.32049424delG	ENSP00000364393:p.Arg1255fs		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1255fs	ENST00000375244.3	37	c.3763		6																																																																																			TNXB	-	superfamily_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	G	NM_019105		32049424	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	frame_shift_del	DEL	0.009	-	-	32049424	G	-	32049424	7	5	78	1	0	1	0	1	0	0	0	0	16376	1116	39	0	11090	0	TNXB	6	32049424	Frame_Shift_Del	DEL	G	TCGA-EA-A410-01A-11D-A243-09	319702	32049424	139065643	26	12184										
DAAM2	23500	genome.wustl.edu	37	chr6	39846355	39846355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagctggtagcccagctcagTgaactctcagtatgcaagca	11	11	2	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:39846355T>C	ENST00000398904.2	+	13	1718	c.1536T>C	c.(1534-1536)agT>agC	p.S512S	DAAM2_ENST00000274867.4_Silent_p.S512S|DAAM2_ENST00000538976.1_Silent_p.S512S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	512					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAGCTCAGTGAACTCTCAG	0.597																																																	0													29	33	32					6																	39846355		1987	4163	6150	SO:0001819	synonymous_variant	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1536T>C	6.37:g.39846355T>C			G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S512	ENST00000398904.2	37	c.1536	CCDS56426.1	6																																																																																			DAAM2	-	NULL		0.597	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	T			39846355	1	no_errors	ENST00000274867	ensembl	human	known	70_37	silent	SNP	0.983	C	C	39846355	T	C	39846355	2	2	78	1	0	0	0	0	0	0	0	1	4221	1693	59	5		5	DAAM2	6	39846355	Silent	SNP	T	TCGA-EA-A410-01A-11D-A243-09	7796931	39846355	131268712	27	12185										
BCLAF1	9774	genome.wustl.edu	37	chr6	136599059	136599059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctccaccatcaggataaaaCgaggaacggcccctagactc	8	14	2	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:136599059C>T	ENST00000531224.1	-	4	1212	c.960G>A	c.(958-960)tcG>tcA	p.S320S	BCLAF1_ENST00000353331.4_Silent_p.S318S|BCLAF1_ENST00000527759.1_Silent_p.S318S|BCLAF1_ENST00000527536.1_Silent_p.S320S|BCLAF1_ENST00000392348.2_Silent_p.S318S|BCLAF1_ENST00000530767.1_Silent_p.S320S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	320					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGGATAAAACGAGGAACGGC	0.398																																					Colon(142;1534 1789 5427 7063 28491)												0													92	93	93					6																	136599059		2203	4300	6503	SO:0001819	synonymous_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.960G>A	6.37:g.136599059C>T			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S320	ENST00000531224.1	37	c.960	CCDS5177.1	6																																																																																			BCLAF1	-	NULL		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	C	NM_014739		136599059	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	silent	SNP	0.934	T	T	136599059	C	T	136599059	2	4	78	1	0	0	0	0	0	0	0	1	1384	523	19	2		2	BCLAF1	6	136599059	Silent	SNP	C	TCGA-EA-A410-01A-11D-A243-09	96752704	136599059	34516008	28	12186										
HECA	51696	genome.wustl.edu	37	chr6	139487874	139487874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aagccacgacctcccccgccGgcattccatggaccggcaga	10	18	0	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:139487874G>A	ENST00000367658.2	+	2	1010	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	242					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTCCCCCGCCGGCATTCCATG	0.677																																																	0													12	15	14					6																	139487874		2182	4271	6453	SO:0001583	missense	51696			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.725G>A	6.37:g.139487874G>A	ENSP00000356630:p.Arg242Gln			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.R242Q	ENST00000367658.2	37	c.725	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976151	0.92982	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	5.13	0.70059	.	0.153012	0.64402	D	0.000020	T	0.52289	0.1725	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.57009	0.811	T	0.52245	-0.8601	9	0.42905	T	0.14	.	18.7842	0.91947	0.0:0.0:1.0:0.0	.	242	Q9UBI9	HDC_HUMAN	Q	242	.	ENSP00000356630:R242Q	R	+	2	0	HECA	139529567	1.000000	0.71417	0.963000	0.40424	0.891000	0.51852	9.136000	0.94489	2.676000	0.91093	0.655000	0.94253	CGG	HECA	-	NULL		0.677	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	G	NM_016217		139487874	1	no_errors	ENST00000367658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139487874	G	A	139487874	3	1	78	1	0	0	0	0	1	0	0	0	7058	1116	39	2	731	2	HECA	6	139487874	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	2888815	139487874	31627193	29	12187										
SYNJ2	8871	genome.wustl.edu	37	chr6	158492661	158492661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccatcgacacagtgaagacGggcatggggggcaaggcggg	19	9	0	2			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:158492661G>A	ENST00000355585.4	+	15	2043	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	SYNJ2_ENST00000367121.3_Silent_p.T656T|SYNJ2_ENST00000367122.2_Silent_p.T656T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	656					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.T656T(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGTGAAGACGGGCATGGGGG	0.612																																																	1	Substitution - coding silent(1)	endometrium(1)											70	70	70					6																	158492661		2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1968G>A	6.37:g.158492661G>A			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.T656	ENST00000355585.4	37	c.1968	CCDS5254.1	6																																																																																			SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.612	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	G			158492661	1	no_errors	ENST00000355585	ensembl	human	known	70_37	silent	SNP	1.000	A	A	158492661	G	A	158492661	2	1	78	1	0	0	0	0	0	0	0	1	15483	1103	39	2		2	SYNJ2	6	158492661	Silent	SNP	G	TCGA-EA-A410-01A-11D-A243-09	19004787	158492661	12622406	30	12188										
TULP4	56995	genome.wustl.edu	37	chr6	158923715	158923715	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	gctggccgacagcccgcgggCccccctgcagcccctggcca							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:158923715delC	ENST00000367097.3	+	13	4377	c.3020delC	c.(3019-3021)gccfs	p.A1007fs	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1007					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCCCGCGGGCCCCCCTGCAG	0.701																																																	0													6	8	7					6																	158923715		2011	4042	6053	SO:0001589	frameshift_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3020delC	6.37:g.158923715delC	ENSP00000356064:p.Ala1007fs		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1009fs	ENST00000367097.3	37	c.3020	CCDS34561.1	6																																																																																			TULP4	-	NULL		0.701	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158923715	1	no_errors	ENST00000367097	ensembl	human	known	70_37	frame_shift_del	DEL	0.925	-	-	158923715	C	-	158923715	7	5	78	1	0	1	0	1	0	0	0	0	16807	739	26	0	3070	0	TULP4	6	158923715	Frame_Shift_Del	DEL	C	TCGA-EA-A410-01A-11D-A243-09	431054	158923715	12191352	31	12189										
COG5	10466	genome.wustl.edu	37	chr7	107167783	107167783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcaagatacgaataatcctcCgaagcaaatcacaggcaacc	6	12	2	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr7:107167783C>T	ENST00000347053.3	-	6	580	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	COG5_ENST00000297135.3_Missense_Mutation_p.R177Q|COG5_ENST00000393603.2_Missense_Mutation_p.R177Q|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	177					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				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						AATAATCCTCCGAAGCAAATC	0.378																																																	0													88	82	84					7																	107167783		2203	4300	6503	SO:0001583	missense	10466			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.530G>A	7.37:g.107167783C>T	ENSP00000334703:p.Arg177Gln		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.R177Q	ENST00000347053.3	37	c.530	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.198641	0.94997	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.37752	1.3;1.22;1.18	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.73962	2.25	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64676	-0.6351	10	0.59425	D	0.04	-13.4999	14.7538	0.69549	0.0:0.9299:0.0:0.0701	.	177;177	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Q	177	ENSP00000334703:R177Q;ENSP00000297135:R177Q;ENSP00000377228:R177Q	ENSP00000297135:R177Q	R	-	2	0	COG5	106955019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	1.441000	0.47550	0.650000	0.86243	CGG	COG5	-	pfam_COG_su5		0.378	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	C			107167783	-1	no_errors	ENST00000297135	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107167783	C	T	107167783	3	4	78	1	0	0	0	0	1	0	0	0	3666	652	23	2	2124	2	COG5	7	107167783	Missense_Mutation	SNP	C	TCGA-EA-A410-01A-11D-A243-09		107167783	51970880	32	12190										
CHD7	55636	genome.wustl.edu	37	chr8	61769043	61769043	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgtccctcgccagcggaggAggaggaggagaaaaatcgaa	15	9	0	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:61769043A>G	ENST00000423902.2	+	34	7683	c.7204A>G	c.(7204-7206)Agg>Ggg	p.R2402G	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2402	Poly-Arg.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAGCGGAGGAGGAGGAGGAG	0.507																																																	0													30	30	30					8																	61769043		1876	4099	5975	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7204A>G	8.37:g.61769043A>G	ENSP00000392028:p.Arg2402Gly		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2402G	ENST00000423902.2	37	c.7204	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766238	0.69878	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.48201	0.82	5.74	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.50333	1.59	0.41503	D	0.988299	P	0.51791	0.948	P	0.46975	0.533	T	0.30563	-0.9974	10	0.25751	T	0.34	-20.4381	13.4077	0.60924	0.4589:0.5411:0.0:0.0	.	2402	Q9P2D1	CHD7_HUMAN	G	2402	ENSP00000392028:R2402G	ENSP00000307304:R2402G	R	+	1	2	CHD7	61931597	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	1.631000	0.37092	0.533000	0.28675	0.460000	0.39030	AGG	CHD7	-	NULL		0.507	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	A	XM_098762		61769043	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61769043	A	G	61769043	3	3	78	1	0	0	0	0	1	0	0	0	3335	295	11	5	7334	5	CHD7	8	61769043	Missense_Mutation	SNP	A	TCGA-EA-A410-01A-11D-A243-09		61769043	84594979	33	12191										
WDR67	93594	genome.wustl.edu	37	chr8	124140521	124140521	+	Splice_Site	DEL	T	T	-													0	0	1	0	NA	0	1	1	0	aacaccaagttttcttacagTttttttttcaccatcggaat					rs570441854		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:124140521delT	ENST00000287380.1	+	14	1975	c.1885delT	c.(1885-1887)ttt>tt	p.F631fs	TBC1D31_ENST00000522420.1_Splice_Site_p.F526fs|TBC1D31_ENST00000327098.5_Splice_Site_p.F631fs|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site_p.F631fs|TBC1D31_ENST00000378080.2_Splice_Site_p.F526fs|TBC1D31_ENST00000521676.1_Splice_Site_p.F508fs	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	631						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCTTACAGTTTTTTTTTCA	0.323																																																	0													76	76	76					8																	124140521		2203	4300	6503	SO:0001630	splice_region_variant	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1T>-	8.37:g.124140521delT			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1885	CCDS6338.1	8																																																																																			WDR67	-	superfamily_Rab-GTPase-TBC_dom		0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	T	NM_145647	Frame_Shift_Del	124140521	1	no_errors	ENST00000287380	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	124140521	T	-	124140521	8	5	78	1	0	1	0	1	0	0	1	0	17349	1739	60	0	1939	0	WDR67	8	124140521	Splice_Site	DEL	T	TCGA-EA-A410-01A-11D-A243-09	62371478	124140521	22223501	34	12192										
BAI1	575	genome.wustl.edu	37	chr8	143558803	143558803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgctccagcacctgtggccGtggctttcgggatcgcacgc	13	15	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:143558803G>A	ENST00000517894.1	+	6	2174	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	BAI1_ENST00000323289.5_Missense_Mutation_p.R427H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	427	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTGTGGCCGTGGCTTTCGG	0.662																																																	0													51	61	58					8																	143558803		2124	4219	6343	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1280G>A	8.37:g.143558803G>A	ENSP00000430945:p.Arg427His			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R427H	ENST00000517894.1	37	c.1280		8	.	.	.	.	.	.	.	.	.	.	G	32	5.141368	0.94560	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.53206	0.63;0.63	4.27	4.27	0.50696	.	0.073636	0.50627	U	0.000119	T	0.58177	0.2104	L	0.33485	1.01	0.54753	D	0.999988	D	0.89917	1.0	D	0.79784	0.993	T	0.63225	-0.6685	10	0.66056	D	0.02	.	16.0233	0.80516	0.0:0.0:1.0:0.0	.	427	E9PBK0	.	H	427	ENSP00000430945:R427H;ENSP00000313046:R427H	ENSP00000313046:R427H	R	+	2	0	BAI1	143555805	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	9.561000	0.98142	2.048000	0.60808	0.561000	0.74099	CGT	BAI1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143558803	1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	143558803	G	A	143558803	3	1	78	1	0	0	0	0	1	0	0	0	1299	1145	40	2	1298	2	BAI1	8	143558803	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	19418282	143558803	2805219	35	12193										
CPSF1	29894	genome.wustl.edu	37	chr8	145625874	145625874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatggagcacgtgtcctgccGcacggccacgcgcctgggga	15	14	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:145625874G>A	ENST00000349769.3	-	8	794	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	234					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTGTCCTGCCGCACGGCCACG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)												0													79	78	78					8																	145625874		2203	4300	6503	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.700C>T	8.37:g.145625874G>A	ENSP00000339353:p.Arg234Trp		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R234W	ENST00000349769.3	37	c.700	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447624	0.43429	.	.	ENSG00000071894	ENST00000349769	T	0.25912	1.77	5.68	1.34	0.21922	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.975;1.0;0.999	T	0.58668	-0.7596	10	0.87932	D	0	-10.1027	15.6241	0.76840	0.0:0.0:0.6926:0.3074	.	234;156;234	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	W	234	ENSP00000339353:R234W	ENSP00000339353:R234W	R	-	1	2	CPSF1	145596682	1.000000	0.71417	0.995000	0.50966	0.064000	0.16182	1.941000	0.40233	-0.052000	0.13311	-0.271000	0.10264	CGG	CPSF1	-	NULL		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145625874	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145625874	G	A	145625874	3	1	78	1	0	0	0	0	1	0	0	0	3829	1086	38	2	3755	2	CPSF1	8	145625874	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	2067071	145625874	738148	36	12194										
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69421905	69421905	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	NA	0	1	1	0	caaatgttaatatgctgtacAaaaaaaatagagaagaatta							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr9:69421905delA	ENST00000357336.3	+	14	1650	c.1369delA	c.(1369-1371)aaafs	p.K458fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	458										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TATGCTGTACAAAAAAAATAG	0.269																																																	0													2	2	2					9																	69421905		406	1294	1700	SO:0001589	frameshift_variant	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1369delA	9.37:g.69421905delA	ENSP00000349891:p.Lys458fs			Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N459fs	ENST00000357336.3	37	c.1369	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL		0.269	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	A	NM_001098805		69421905	1	no_errors	ENST00000357336	ensembl	human	known	70_37	frame_shift_del	DEL	0.373	-	-	69421905	A	-	69421905	7	5	78	1	0	1	0	1	0	0	0	0	650	131	5	0	1423	0	ANKRD20A4	9	69421905	Frame_Shift_Del	DEL	A	TCGA-EA-A410-01A-11D-A243-09		69421905	71791526	37	12195										
SDCCAG3	10807	genome.wustl.edu	37	chr9	139301724	139301724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagaatcagtgtcactcaacGcccacgagggcagagactca	11	12	4	2			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr9:139301724G>A	ENST00000357365.3	-	5	821	c.692C>T	c.(691-693)gCg>gTg	p.A231V	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.A158V|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.A208V|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	231						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GTCACTCAACGCCCACGAGGG	0.637																																																	0													22	25	24					9																	139301724		2048	4192	6240	SO:0001583	missense	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.692C>T	9.37:g.139301724G>A	ENSP00000349929:p.Ala231Val		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.A231V	ENST00000357365.3	37	c.692	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951958	0.34471	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.30981	2.5;2.51;2.51;1.51	5.4	4.5	0.54988	.	0.304106	0.32416	N	0.006122	T	0.17789	0.0427	N	0.14661	0.345	0.22330	N	0.999191	P;P;P	0.37122	0.583;0.583;0.583	B;B;B	0.34138	0.176;0.176;0.176	T	0.09465	-1.0673	10	0.32370	T	0.25	-34.9473	12.2948	0.54840	0.0836:0.0:0.9164:0.0	.	158;208;231	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	V	231;208;158;181	ENSP00000349929:A231V;ENSP00000298537:A208V;ENSP00000360790:A158V;ENSP00000360788:A181V	ENSP00000298537:A208V	A	-	2	0	SDCCAG3	138421545	0.986000	0.35501	0.493000	0.27502	0.022000	0.10575	2.309000	0.43699	1.260000	0.44134	0.655000	0.94253	GCG	SDCCAG3	-	NULL		0.637	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	G	NM_006643		139301724	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	missense	SNP	0.935	A	A	139301724	G	A	139301724	3	1	78	1	0	0	0	0	1	0	0	0	13988	1087	38	2	639	2	SDCCAG3	9	139301724	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	69879819	139301724	1911707	38	12196										
CRTAC1	401647	genome.wustl.edu	37	chr10	99625445	99625445	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	agcggtgggggtggtggggcGggggcccggtgactggccga							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr10:99625445delG	ENST00000370602.1	+	5	557	c.492delG	c.(490-492)gcgfs	p.A164fs	CRTAC1_ENST00000298819.4_Frame_Shift_Del_p.P601fs|CRTAC1_ENST00000370597.3_Frame_Shift_Del_p.R616fs|GOLGA7B_ENST00000596005.1_5'Flank	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	164	Poly-Gly.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						GTGGTGGGGCGGGGGCCCGGT	0.682																																																	0													10	10	10					10																	99625445		2189	4280	6469	SO:0001589	frameshift_variant	55118			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.492delG	10.37:g.99625445delG	ENSP00000359634:p.Ala164fs		Q5T4F5	Frame_Shift_Del	DEL	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.R616fs	ENST00000370602.1	37	c.1846	CCDS31265.1	10																																																																																			CRTAC1	-	NULL		0.682	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049752.1	G	NM_001010917		99625445	-1	no_errors	ENST00000370597	ensembl	human	known	70_37	frame_shift_del	DEL	0.838	-	-	99625445	G	-	99625445	7	5	78	1	0	1	0	1	0	0	0	0	3901	1116	39	0	143	0	CRTAC1	10	99625445	Frame_Shift_Del	DEL	G	TCGA-EA-A410-01A-11D-A243-09		99625445	35909302	39	12197										
CNNM1	26507	genome.wustl.edu	37	chr10	101089223	101089223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccgaggcgctgtgctcctgCtcttcttttccctgtctcct	9	16	3	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr10:101089223C>T	ENST00000356713.4	+	1	368	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	CNNM1_ENST00000370528.3_Missense_Mutation_p.L27F|CNNM1_ENST00000446890.1_Missense_Mutation_p.L27F|CNNM1_ENST00000370534.4_5'Flank	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	27					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTGCTCCTGCTCTTCTTTTC	0.756																																																	0													3	4	4					10																	101089223		1453	2987	4440	SO:0001583	missense	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.79C>T	10.37:g.101089223C>T	ENSP00000349147:p.Leu27Phe		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.L27F	ENST00000356713.4	37	c.79	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594181	0.46214	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.90444	-2.19;-2.67;-2.61	4.0	4.0	0.46444	.	.	.	.	.	D	0.89448	0.6718	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	D	0.91769	0.5426	9	0.66056	D	0.02	-3.7528	15.0403	0.71785	0.0:1.0:0.0:0.0	.	27;27	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	F	27	ENSP00000349147:L27F;ENSP00000406492:L27F;ENSP00000359559:L27F	ENSP00000349147:L27F	L	+	1	0	CNNM1	101079213	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	4.009000	0.57110	2.073000	0.62155	0.462000	0.41574	CTC	CNNM1	-	NULL		0.756	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101089223	1	no_errors	ENST00000356713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101089223	C	T	101089223	3	4	78	1	0	0	0	0	1	0	0	0	3617	797	28	4	81	4	CNNM1	10	101089223	Missense_Mutation	SNP	C	TCGA-EA-A410-01A-11D-A243-09	1463778	101089223	34445524	40	12198										
TSSC4	10078	genome.wustl.edu	37	chr11	2424288	2424288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggcctgggcagggcccatcGgagccctgcctcaccaaggg	15	15	1	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:2424288G>A	ENST00000333256.6	+	3	868	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	TSSC4_ENST00000380996.5_Missense_Mutation_p.R78Q|TSSC4_ENST00000380992.1_Missense_Mutation_p.R78Q|TSSC4_ENST00000451491.2_Missense_Mutation_p.R142Q|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	142										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCCCATCGGAGCCCTGCC	0.667																																																	0													13	15	14					11																	2424288		2186	4288	6474	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.425G>A	11.37:g.2424288G>A	ENSP00000331087:p.Arg142Gln		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.R142Q	ENST00000333256.6	37	c.425	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150755	0.01700	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T	0.45668	2.22;2.48;0.89;1.51;1.91;1.52;2.48	2.84	0.706	0.18133	.	1.377000	0.05622	N	0.580169	T	0.16642	0.0400	N	0.03324	-0.35	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.21930	-1.0231	10	0.08599	T	0.76	-5.0421	3.2083	0.06674	0.5282:0.2311:0.2408:0.0	.	142;78	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	Q	78;142;78;142;78;142;142	ENSP00000370384:R78Q;ENSP00000331087:R142Q;ENSP00000370380:R78Q;ENSP00000396925:R142Q;ENSP00000416937:R78Q;ENSP00000435013:R142Q;ENSP00000411224:R142Q	ENSP00000331087:R142Q	R	+	2	0	TSSC4	2380864	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.024000	0.12435	0.171000	0.19730	-0.369000	0.07265	CGG	TSSC4	-	NULL		0.667	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424288	1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.003	A	A	2424288	G	A	2424288	3	1	78	1	0	0	0	0	1	0	0	0	16698	1116	39	2	427	2	TSSC4	11	2424288	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09		2424288	132582228	41	12199										
ABCC8	6833	genome.wustl.edu	37	chr11	17419331	17419331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgcgatgagcaccacacatGcaccgatgtactcctgggga	11	13	0	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:17419331G>A	ENST00000389817.3	-	31	3835	c.3767C>T	c.(3766-3768)gCa>gTa	p.A1256V	ABCC8_ENST00000302539.4_Missense_Mutation_p.A1257V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1256	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACCACACATGCACCGATGTA	0.627																																																	0													90	85	86					11																	17419331		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3767C>T	11.37:g.17419331G>A	ENSP00000374467:p.Ala1256Val		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A1257V	ENST00000389817.3	37	c.3770	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.110819	0.94292	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89485	-2.52;-2.52	5.18	5.18	0.71444	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92355	0.7574	M	0.64997	1.995	0.80722	D	1	P	0.46859	0.885	P	0.55011	0.766	D	0.92507	0.6013	10	0.56958	D	0.05	.	19.0427	0.93008	0.0:0.0:1.0:0.0	.	1256	Q09428	ABCC8_HUMAN	V	1256;1257	ENSP00000374467:A1256V;ENSP00000303960:A1257V	ENSP00000303960:A1257V	A	-	2	0	ABCC8	17375907	1.000000	0.71417	0.916000	0.36221	0.963000	0.63663	9.526000	0.98042	2.580000	0.87095	0.555000	0.69702	GCA	ABCC8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.627	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	G	NM_000352		17419331	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17419331	G	A	17419331	3	1	78	1	0	0	0	0	1	0	0	0	58	1319	46	4	1014	4	ABCC8	11	17419331	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	14995043	17419331	117587185	42	12200										
FLRT1	28992	genome.wustl.edu	37	chr11	63885113	63885113	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgcatcacgtggaaggccacGctccccgcctcctctttccg	9	19	2	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:63885113G>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.T458T|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.T458T(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GGAAGGCCACGCTCCCCGCCT	0.652																																																	1	Substitution - coding silent(1)	prostate(1)											37	36	36					11																	63885113		2200	4297	6497	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33597C>T	11.37:g.63885113G>A			Q9UH96	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.T458	ENST00000255681.6	37	c.1374	CCDS8056.1	11																																																																																			FLRT1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	G	NM_014067		63885113	1	no_errors	ENST00000246841	ensembl	human	known	70_37	silent	SNP	0.002	A	A	63885113	G	A	63885113	1	1	78	0	1	0	0	0	0	0	0	0	5956	1074	38	2		2	FLRT1	11	63885113	Intron	SNP	G	TCGA-EA-A410-01A-11D-A243-09	46465782	63885113	71121403	43	12201										
LRP5	4041	genome.wustl.edu	37	chr11	68201306	68201306	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagacgaggcggactgtgacGgtgaggccctccccgtcaag	15	13	1	3			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:68201306G>T	ENST00000294304.7	+	18	4106	c.4000G>T	c.(4000-4002)Gcc>Tcc	p.A1334S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1334					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTGTGACGGTGAGGCCCT	0.697																																																	0													20	19	19					11																	68201306		2198	4289	6487	SO:0001630	splice_region_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4000+1G>T	11.37:g.68201306G>T			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A1334S	ENST00000294304.7	37	c.4000	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687302	0.14973	.	.	ENSG00000162337	ENST00000294304	D	0.92805	-3.11	4.39	4.39	0.52855	.	0.450310	0.18021	U	0.154228	T	0.81370	0.4808	N	0.17872	0.535	0.37426	D	0.913826	B;B	0.15141	0.012;0.012	B;B	0.16722	0.016;0.016	T	0.72931	-0.4142	10	0.10377	T	0.69	.	3.9444	0.09343	0.1418:0.0:0.6247:0.2334	.	1334;1334	Q9UES7;O75197	.;LRP5_HUMAN	S	1334	ENSP00000294304:A1334S	ENSP00000294304:A1334S	A	+	1	0	LRP5	67957882	0.954000	0.32549	0.962000	0.40283	0.655000	0.38815	1.602000	0.36783	2.298000	0.77334	0.456000	0.33151	GCC	LRP5	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.697	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335	Missense_Mutation	68201306	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.959	T	T	68201306	G	T	68201306	5	4	78	1	0	0	0	0	0	0	1	0	8983	1130	39	2	4070	2	LRP5	11	68201306	Splice_Site	SNP	G	TCGA-EA-A410-01A-11D-A243-09	4316193	68201306	66805210	44	12202										
LTBR	4055	genome.wustl.edu	37	chr12	6499901	6499902	+	Frame_Shift_Ins	INS	-	-	G													0	0	1	0	NA	0	1	1	0	atctacaatggaccagtactINSggggggaccaccgggtcctg					rs542537099		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr12:6499901_6499902insG	ENST00000228918.4	+	10	1432_1433	c.1106_1107insG	c.(1105-1110)ctggggfs	p.LG369fs	LTBR_ENST00000541102.1_Frame_Shift_Ins_p.LG226fs|LTBR_ENST00000539925.1_Frame_Shift_Ins_p.LG350fs	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	369					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GGACCAGTACTGGGGGGACCAC	0.599																																																	0																																										SO:0001589	frameshift_variant	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1112dupG	12.37:g.6499907_6499907dupG	ENSP00000228918:p.Leu369fs		B7Z1D2|D3DUR2|F5GXE7	Frame_Shift_Ins	INS	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR	p.P372fs	ENST00000228918.4	37	c.1106_1107	CCDS8544.1	12																																																																																			LTBR	-	pirsf_TNFR_3_LTBR		0.599	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	-			6499902	1	no_errors	ENST00000228918	ensembl	human	known	70_37	frame_shift_ins	INS	0.411:0.497	G	G	6499902	-	G	6499901	7	5	78	1	0	1	1	0	0	0	0	0	9100	1580	55	0	1144	0	LTBR	12	6499901	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		6499901	127351994	45	12203										
TAOK3	51347	genome.wustl.edu	37	chr12	118675938	118675938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcaaggctccatgagtaatgGcagcgatctccacttcctga	10	12	1	2			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr12:118675938G>A	ENST00000392533.3	-	7	867	c.377C>T	c.(376-378)gCc>gTc	p.A126V	TAOK3_ENST00000419821.2_Missense_Mutation_p.A126V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	126	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGAGTAATGGCAGCGATCTC	0.368																																																	0													155	138	144					12																	118675938		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.377C>T	12.37:g.118675938G>A	ENSP00000376317:p.Ala126Val		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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.A126V	ENST00000392533.3	37	c.377	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996639	0.93167	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000538601;ENST00000535570	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.15	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.04018	-0.295	0.80722	D	1	P	0.42518	0.782	B	0.41619	0.361	T	0.60120	-0.7325	10	0.87932	D	0	.	18.9948	0.92809	0.0:0.0:1.0:0.0	.	126	Q9H2K8	TAOK3_HUMAN	V	126;126;24;126	ENSP00000416374:A126V;ENSP00000376317:A126V;ENSP00000437389:A24V;ENSP00000443465:A126V	ENSP00000376317:A126V	A	-	2	0	TAOK3	117160321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.679000	0.98649	2.562000	0.86427	0.655000	0.94253	GCC	TAOK3	-	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		0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	G	NM_016281		118675938	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118675938	G	A	118675938	3	1	78	1	0	0	0	0	1	0	0	0	15579	1203	42	4	2379	4	TAOK3	12	118675938	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	112176037	118675938	15175957	46	12204										
TM9SF2	9375	genome.wustl.edu	37	chr13	100181813	100181814	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	NA	0	1	1	0	aacaaaagttagaattcttgINSaaaaaaagcatgttattgaa							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr13:100181813_100181814insA	ENST00000376387.4	+	4	616_617	c.426_427insA	c.(427-429)aaafs	p.K143fs	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	143					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TAGAATTCTTGAAAAAAAGCAT	0.312																																																	0																																										SO:0001589	frameshift_variant	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.433dupA	13.37:g.100181820_100181820dupA	ENSP00000365567:p.Lys143fs		A8K399|Q2TAY5	Frame_Shift_Ins	INS	pfam_EMP70	p.S144fs	ENST00000376387.4	37	c.426_427	CCDS9493.1	13																																																																																			TM9SF2	-	pfam_EMP70		0.312	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	-			100181814	1	no_errors	ENST00000376387	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	100181814	-	A	100181813	7	5	78	1	0	1	1	0	0	0	0	0	16008	1281	45	0	440	0	TM9SF2	13	100181813	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		100181813	14988065	47	12205										
CHD8	57680	genome.wustl.edu	37	chr14	21897286	21897287	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	tggttgtggtacaatctggaINSttttttgctgtggctgctgc							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr14:21897286_21897287insT	ENST00000557364.1	-	3	1314_1315	c.1051_1052insA	c.(1051-1053)atcfs	p.I351fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Ins_p.I72fs|CHD8_ENST00000399982.2_Frame_Shift_Ins_p.I351fs|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	351	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TACAATCTGGATTTTTTGCTGT	0.574																																																	0																																										SO:0001589	frameshift_variant	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1052dupA	14.37:g.21897292_21897292dupT	ENSP00000451601:p.Ile351fs		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.I351fs	ENST00000557364.1	37	c.1052_1051	CCDS53885.1	14																																																																																			CHD8	-	NULL		0.574	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	NM_020920		21897287	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	T	T	21897287	-	T	21897286	7	5	78	1	0	1	1	0	0	0	0	0	3336	333	12	0	6837	0	CHD8	14	21897286	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		21897286	85452254	48	12206										
RGS11	8786	genome.wustl.edu	37	chr16	321285	321285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgacacgaggggatcgtggGgtccacgctggccgcagaaa	16	12	0	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:321285G>T	ENST00000397770.3	-	12	796	c.779C>A	c.(778-780)cCc>cAc	p.P260H	RGS11_ENST00000316163.5_Missense_Mutation_p.P239H|RGS11_ENST00000359740.5_Missense_Mutation_p.P249H|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	260	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGATCGTGGGGTCCACGCTG	0.662																																																	0													30	35	33					16																	321285		2203	4300	6503	SO:0001583	missense	8786			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.779C>A	16.37:g.321285G>T	ENSP00000380876:p.Pro260His		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P260H	ENST00000397770.3	37	c.779	CCDS42088.1	16	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369118	0.24771	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.21734	1.99;1.99;1.99	4.77	2.79	0.32731	G-protein gamma domain (4);	0.368825	0.27549	N	0.018877	T	0.43919	0.1269	M	0.82517	2.595	0.09310	N	0.99999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.65233	0.922;0.933;0.933	T	0.31081	-0.9956	10	0.62326	D	0.03	-22.982	10.1556	0.42820	0.1655:0.0:0.8345:0.0	.	249;260;260	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	H	260;239;249	ENSP00000380876:P260H;ENSP00000319069:P239H;ENSP00000352778:P249H	ENSP00000319069:P239H	P	-	2	0	RGS11	261286	0.989000	0.36119	0.001000	0.08648	0.222000	0.24845	1.937000	0.40193	0.427000	0.26145	0.305000	0.20034	CCC	RGS11	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom		0.662	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS11	HGNC	protein_coding	OTTHUMT00000139325.2	G			321285	-1	no_errors	ENST00000397770	ensembl	human	known	70_37	missense	SNP	0.060	T	T	321285	G	T	321285	3	4	78	1	0	0	0	0	1	0	0	0	13324	1232	43	4	648	4	RGS11	16	321285	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09		321285	90033468	49	12207										
WDR90	197335	genome.wustl.edu	37	chr16	707790	707790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gtatgcccggatgcccccgcGagccccagcgccctggcagt	13	18	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:707790G>A	ENST00000293879.4	+	21	2502	c.2502G>A	c.(2500-2502)gcG>gcA	p.A834A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.A834A			Q96KV7	WDR90_HUMAN	WD repeat domain 90	834										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATGCCCCCGCGAGCCCCAGCG	0.716																																																	0													9	12	11					16																	707790		1921	4071	5992	SO:0001819	synonymous_variant	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2502G>A	16.37:g.707790G>A			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A834	ENST00000293879.4	37	c.2502	CCDS42092.1	16																																																																																			WDR90	-	superfamily_WD40_repeat_dom		0.716	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		707790	1	no_errors	ENST00000549091	ensembl	human	novel	70_37	silent	SNP	0.000	A	A	707790	G	A	707790	2	1	78	1	0	0	0	0	0	0	0	1	17368	1045	37	1		1	WDR90	16	707790	Silent	SNP	G	TCGA-EA-A410-01A-11D-A243-09	386505	707790	89646963	50	12208										
NLRC3	197358	genome.wustl.edu	37	chr16	3613196	3613196	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccatggcctcctccacgctgCgggccagctcggtgtgctgc	13	17	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:3613196C>T	ENST00000301749.7	-	0	2147				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCACGCTGCGGGCCAGCTC	0.706																																																	0													9	12	11					16																	3613196		2107	4216	6323			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613196C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R628H	ENST00000301749.7	37	c.1883		16	.	.	.	.	.	.	.	.	.	.	C	6.775	0.511954	0.12944	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	4.89	-3.46	0.04767	.	0.489205	0.20893	N	0.083782	T	0.71779	0.3380	.	.	.	0.09310	N	1	B	0.25904	0.137	B	0.18561	0.022	T	0.59112	-0.7515	9	0.59425	D	0.04	.	6.5398	0.22375	0.0:0.4107:0.1225:0.4668	.	628	C9JLH9	.	H	581;581;581;628;563	ENSP00000301749:R581H;ENSP00000352039:R581H;ENSP00000414415:R628H;ENSP00000323897:R563H	ENSP00000301749:R581H	R	-	2	0	NLRC3	3553197	0.000000	0.05858	0.062000	0.19696	0.012000	0.07955	1.086000	0.30853	-0.740000	0.04803	-0.878000	0.02970	CGC	NLRC3	-	NULL		0.706	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3613196	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	0.017	T	T	3613196	C	T	3613196	1	4	78	0	1	0	0	0	0	0	0	0	10492	768	27	2		2	NLRC3	16	3613196	RNA	SNP	C	TCGA-EA-A410-01A-11D-A243-09	2905406	3613196	86741557	51	12209										
PPL	5493	genome.wustl.edu	37	chr16	4933425	4933425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	agaccgccagctcctggatgGacatatccttgttgacatag	10	11	0	2	rs560425818		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:4933425G>A	ENST00000345988.2	-	22	5320	c.5231C>T	c.(5230-5232)tCc>tTc	p.S1744F	PPL_ENST00000590782.2_Missense_Mutation_p.S1742F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1744					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCCTGGATGGACATATCCTT	0.567																																																	0													90	83	85					16																	4933425		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.5231C>T	16.37:g.4933425G>A	ENSP00000340510:p.Ser1744Phe		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S1744F	ENST00000345988.2	37	c.5231	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229474	0.58777	.	.	ENSG00000118898	ENST00000345988	T	0.46063	0.88	5.83	5.83	0.93111	.	0.139293	0.49916	D	0.000124	T	0.65417	0.2689	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.78314	0.991	T	0.64689	-0.6348	10	0.59425	D	0.04	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1744	O60437	PEPL_HUMAN	F	1744	ENSP00000340510:S1744F	ENSP00000340510:S1744F	S	-	2	0	PPL	4873426	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.939000	0.70179	2.769000	0.95229	0.655000	0.94253	TCC	PPL	-	NULL		0.567	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	G	NM_002705		4933425	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4933425	G	A	4933425	3	1	78	1	0	0	0	0	1	0	0	0	12361	1174	41	1	43	1	PPL	16	4933425	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	1320229	4933425	85421328	52	12210										
MKL2	57496	genome.wustl.edu	37	chr16	14346300	14346300	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	cagtcgccaagacaaaagatCccccccgctatgaggaggcc							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:14346300delC	ENST00000341243.5	+	13	2611	c.2611delC	c.(2611-2613)cccfs	p.P872fs	MKL2_ENST00000574045.1_Frame_Shift_Del_p.P833fs|MKL2_ENST00000318282.5_Frame_Shift_Del_p.P833fs|MKL2_ENST00000571589.1_Frame_Shift_Del_p.P883fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	872					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACAAAAGATCCCCCCCGCTA	0.562																																																	0													78	79	79					16																	14346300		2197	4300	6497	SO:0001589	frameshift_variant	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2611delC	16.37:g.14346300delC	ENSP00000345841:p.Pro872fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.R873fs	ENST00000341243.5	37	c.2611		16																																																																																			MKL2	-	NULL		0.562	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		C	NM_014048		14346300	1	no_errors	ENST00000341243	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	14346300	C	-	14346300	7	5	78	1	0	1	0	1	0	0	0	0	9625	855	30	0	2544	0	MKL2	16	14346300	Frame_Shift_Del	DEL	C	TCGA-EA-A410-01A-11D-A243-09	9412875	14346300	76008453	53	12211										
ZFHX3	463	genome.wustl.edu	37	chr16	72830806	72830807	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	NA	0	1	1	0	gcatggaaggctcagaaccaINSccccctggtgccaactcttt							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:72830806_72830807insC	ENST00000268489.5	-	9	6446_6447	c.5774_5775insG	c.(5773-5775)ggtfs	p.G1925fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.G1011fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1925					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1925G(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTCAGAACCACCCCCTGGTGC	0.589																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001589	frameshift_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5775dupG	16.37:g.72830811_72830811dupC	ENSP00000268489:p.Gly1925fs		D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G1926fs	ENST00000268489.5	37	c.5775_5774	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.589	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	NM_006885		72830807	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C	C	72830807	-	C	72830806	7	5	78	1	0	1	1	0	0	0	0	0	17664	146	6	0	5344	0	ZFHX3	16	72830806	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	58484506	72830806	17523947	54	12212										
TCF25	22980	genome.wustl.edu	37	chr16	89971470	89971470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggttctgcaagcagtggacGccggggacccagccgtggaa	16	11	1	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:89971470G>A	ENST00000263346.8	+	14	1650	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	TCF25_ENST00000263347.7_Missense_Mutation_p.A297T|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	532					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCAGTGGACGCCGGGGACCC	0.632																																																	0													28	34	32					16																	89971470		2191	4294	6485	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1594G>A	16.37:g.89971470G>A	ENSP00000263346:p.Ala532Thr		Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.A532T	ENST00000263346.8	37	c.1594	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328381	0.24080	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	2.49	0.30216	.	0.271858	0.42294	D	0.000740	T	0.29061	0.0722	L	0.33668	1.02	0.27771	N	0.943506	P;P	0.35807	0.522;0.492	B;B	0.30495	0.116;0.11	T	0.06338	-1.0832	9	0.31617	T	0.26	.	13.3493	0.60593	0.0:0.0:0.5393:0.4607	.	297;532	Q9H384;Q9BQ70	.;TCF25_HUMAN	T	532;297	.	ENSP00000263346:A532T	A	+	1	0	TCF25	88498971	0.033000	0.19621	0.009000	0.14445	0.030000	0.12068	0.366000	0.20365	0.248000	0.21435	0.591000	0.81541	GCC	TCF25	-	pfam_TCF25		0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89971470	1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	0.411	A	A	89971470	G	A	89971470	3	1	78	1	0	0	0	0	1	0	0	0	15723	1087	38	2	1648	2	TCF25	16	89971470	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	17140664	89971470	383283	55	12213										
SLC16A11	162515	genome.wustl.edu	37	chr17	6945572	6945572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccccgaatacggccagcagcCgcgggaggggcacccagcct	14	17	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:6945572C>T	ENST00000308009.1	-	3	1266	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	SLC16A11_ENST00000447225.1_Missense_Mutation_p.R286Q	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	310					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCCAGCAGCCGCGGGAGGGG	0.741																																																	0													3	6	5					17																	6945572		1986	3909	5895	SO:0001583	missense	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.929G>A	17.37:g.6945572C>T	ENSP00000310490:p.Arg310Gln			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R310Q	ENST00000308009.1	37	c.929	CCDS11086.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136260	0.77662	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.60424	0.19;0.36	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.067341	0.64402	D	0.000012	T	0.59293	0.2183	L	0.31664	0.95	0.33091	D	0.537922	D	0.89917	1.0	D	0.66716	0.946	T	0.63111	-0.6710	10	0.26408	T	0.33	.	9.4102	0.38487	0.0:0.9064:0.0:0.0936	.	310	Q8NCK7	MOT11_HUMAN	Q	310;286	ENSP00000310490:R310Q;ENSP00000394449:R286Q	ENSP00000310490:R310Q	R	-	2	0	SLC16A11	6886296	0.946000	0.32159	0.995000	0.50966	0.994000	0.84299	3.183000	0.50918	2.633000	0.89246	0.655000	0.94253	CGG	SLC16A11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.741	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	C	NM_153357		6945572	-1	no_errors	ENST00000308009	ensembl	human	known	70_37	missense	SNP	0.968	T	T	6945572	C	T	6945572	3	4	78	1	0	0	0	0	1	0	0	0	14434	652	23	2	494	2	SLC16A11	17	6945572	Missense_Mutation	SNP	C	TCGA-EA-A410-01A-11D-A243-09		6945572	74249638	56	12214										
ALOXE3	59344	genome.wustl.edu	37	chr17	8013799	8013799	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	cggccgtttaggcagtgggtGggggcctccgccaggatcca							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:8013799delG	ENST00000448843.2	-	9	1345	c.1005delC	c.(1003-1005)cccfs	p.P335fs	ALOXE3_ENST00000318227.3_Frame_Shift_Del_p.P467fs|ALOXE3_ENST00000380149.1_Frame_Shift_Del_p.P491fs	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	335	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCAGTGGGTGGGGGCCTCCG	0.667											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	36	36					17																	8013799		2197	4287	6484	SO:0001589	frameshift_variant	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1005delC	17.37:g.8013799delG	ENSP00000400581:p.Pro335fs	646	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Frame_Shift_Del	DEL	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.T468fs	ENST00000448843.2	37	c.1401	CCDS11130.1	17																																																																																			ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C		0.667	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	G			8013799	-1	no_errors	ENST00000318227	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	8013799	G	-	8013799	7	5	78	1	0	1	0	1	0	0	0	0	542	1335	47	0	1162	0	ALOXE3	17	8013799	Frame_Shift_Del	DEL	G	TCGA-EA-A410-01A-11D-A243-09	1068227	8013799	73181411	57	12215										
FMNL1	752	genome.wustl.edu	37	chr17	43323080	43323080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgttcttctccctctttagcCgcttcattaaggcctacaag	6	13	4	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:43323080C>T	ENST00000331495.3	+	23	3310	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R992C|MAP3K14-AS1_ENST00000591263.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.R570C	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	992	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCTTTAGCCGCTTCATTAA	0.592																																					GBM(164;1247 1997 8702 11086 51972)												0													79	74	76					17																	43323080		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2974C>T	17.37:g.43323080C>T	ENSP00000329219:p.Arg992Cys		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R992C	ENST00000331495.3	37	c.2974	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976760	0.53720	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	T;T	0.18338	2.22;2.22	4.36	3.35	0.38373	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48736	-0.9009	10	0.72032	D	0.01	.	12.4378	0.55608	0.1694:0.8305:0.0:0.0	.	992	O95466	FMNL_HUMAN	C	992	ENSP00000327442:R992C;ENSP00000329219:R992C	ENSP00000327442:R992C	R	+	1	0	FMNL1	40678863	0.863000	0.29885	0.998000	0.56505	0.408000	0.30992	1.385000	0.34408	1.139000	0.42245	0.442000	0.29010	CGC	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43323080	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	0.991	T	T	43323080	C	T	43323080	3	4	78	1	0	0	0	0	1	0	0	0	5969	652	23	2	3064	2	FMNL1	17	43323080	Missense_Mutation	SNP	C	TCGA-EA-A410-01A-11D-A243-09	35309281	43323080	37872130	58	12216										
C17orf56	146705	genome.wustl.edu	37	chr17	79202813	79202813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggacgatgtttggggggcgCggggagcatcaggacaggac	21	7	1	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:79202813C>T	ENST00000300714.3	-	12	1550	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.R414H|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	498						cytoplasmic vesicle (GO:0031410)											TTGGGGGGCGCGGGGAGCATC	0.672																																																	0													34	39	37					17																	79202813		2203	4300	6503	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1493G>A	17.37:g.79202813C>T	ENSP00000300714:p.Arg498His		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.R498H	ENST00000300714.3	37	c.1493	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	C	9.471	1.095619	0.20471	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.75260	-0.92;-0.92	4.12	-2.97	0.05530	.	3.951780	0.00575	N	0.000317	T	0.54287	0.1849	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43925	-0.9361	10	0.44086	T	0.13	-0.2544	6.729	0.23373	0.0:0.4399:0.2873:0.2727	.	498;414	Q96N21;Q96N21-2	CQ056_HUMAN;.	H	498;414	ENSP00000300714:R498H;ENSP00000363901:R414H	ENSP00000300714:R498H	R	-	2	0	C17orf56	76817408	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.246000	0.08878	-1.301000	0.02338	-1.284000	0.01376	CGC	ENTHD2	-	NULL		0.672	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	C	NM_144679		79202813	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	missense	SNP	0.000	T	T	79202813	C	T	79202813	3	4	78	1	0	0	0	0	1	0	0	0	1868	768	27	2	88	2	C17orf56	17	79202813	Missense_Mutation	SNP	C	TCGA-EA-A410-01A-11D-A243-09	35879733	79202813	1992397	59	12217										
FSCN2	25794	genome.wustl.edu	37	chr17	79495811	79495811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgtgaggcagagcagccggGccgtgactgccgcttcctgg	16	13	0	3			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:79495811G>A	ENST00000417245.2	+	1	390	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FSCN2_ENST00000334850.7_Missense_Mutation_p.G85D|RP13-766D20.2_ENST00000430912.1_RNA|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	85					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGCAGCCGGGCCGTGACTGC	0.716																																																	0													3	5	4					17																	79495811		1906	3941	5847	SO:0001583	missense	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.254G>A	17.37:g.79495811G>A	ENSP00000388716:p.Gly85Asp		A0AVC4|A8MRA6	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.G85D	ENST00000417245.2	37	c.254	CCDS45811.1	17	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495793	0.26774	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.23348	1.91;1.91	4.62	4.62	0.57501	Fascin domain (1);Actin cross-linking (1);	0.300954	0.33813	N	0.004531	T	0.20414	0.0491	L	0.46741	1.465	0.27548	N	0.950591	B;B	0.19200	0.034;0.002	B;B	0.20184	0.028;0.006	T	0.15954	-1.0419	10	0.12766	T	0.61	-4.0549	9.9968	0.41905	0.0962:0.0:0.9038:0.0	.	85;85	O14926;A8MRA6	FSCN2_HUMAN;.	D	85	ENSP00000388716:G85D;ENSP00000334665:G85D	ENSP00000334665:G85D	G	+	2	0	FSCN2	77110406	0.996000	0.38824	0.961000	0.40146	0.989000	0.77384	3.091000	0.50199	2.102000	0.63906	0.591000	0.81541	GGC	FSCN2	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.716	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	G	NM_012418		79495811	1	no_errors	ENST00000334850	ensembl	human	known	70_37	missense	SNP	0.507	A	A	79495811	G	A	79495811	3	1	78	1	0	0	0	0	1	0	0	0	6086	1203	42	4	256	4	FSCN2	17	79495811	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	292998	79495811	1699399	60	12218										
C17orf70	80233	genome.wustl.edu	37	chr17	79507882	79507882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggggtggcgcagctgccggTacacctgtagcagcctctgg	16	12	1	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:79507882T>C	ENST00000327787.8	-	9	2655	c.2609A>G	c.(2608-2610)tAc>tGc	p.Y870C	C17orf70_ENST00000425898.2_Missense_Mutation_p.Y519C|C17orf70_ENST00000537152.1_Missense_Mutation_p.Y719C			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	870					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAGCTGCCGGTACACCTGTAG	0.706																																																	0													13	13	13					17																	79507882		2144	4198	6342	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2609A>G	17.37:g.79507882T>C	ENSP00000333283:p.Tyr870Cys		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.Y870C	ENST00000327787.8	37	c.2609	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536372	0.65085	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.48201	0.82;0.82;0.82	4.14	4.14	0.48551	.	0.174981	0.38837	N	0.001548	T	0.64114	0.2569	M	0.67953	2.075	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67476	-0.5661	10	0.87932	D	0	.	10.7643	0.46283	0.0:0.0:0.0:1.0	.	870;519	Q0VG06;E7EVV8	FP100_HUMAN;.	C	870;519;243;719	ENSP00000333283:Y870C;ENSP00000399674:Y519C;ENSP00000440151:Y719C	ENSP00000333283:Y870C	Y	-	2	0	C17orf70	77118357	0.990000	0.36364	0.985000	0.45067	0.837000	0.47467	1.530000	0.36007	1.726000	0.51525	0.482000	0.46254	TAC	C17orf70	-	NULL		0.706	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	T	NM_025161		79507882	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.968	C	C	79507882	T	C	79507882	3	2	78	1	0	0	0	0	1	0	0	0	1881	1638	57	5	40	5	C17orf70	17	79507882	Missense_Mutation	SNP	T	TCGA-EA-A410-01A-11D-A243-09	12071	79507882	1687328	61	12219										
ZNF440	126070	genome.wustl.edu	37	chr19	11942915	11942916	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	NA	0	1	1	0	atgaaaggacccactctaggINSaaaaatctctatgaatgtaa							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:11942915_11942916insA	ENST00000304060.5	+	4	1088_1089	c.924_925insA	c.(925-927)aaafs	p.K309fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCACTCTAGGAAAAATCTCTA	0.396																																																	0																																										SO:0001589	frameshift_variant	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.929dupA	19.37:g.11942920_11942920dupA	ENSP00000305373:p.Lys309fs		Q8N1R9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N309fs	ENST00000304060.5	37	c.924_925	CCDS42503.1	19																																																																																			ZNF440	-	pfscan_Znf_C2H2		0.396	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	NM_152357		11942916	1	no_errors	ENST00000304060	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	A	A	11942916	-	A	11942915	7	5	78	1	0	1	1	0	0	0	0	0	17943	1165	41	0	938	0	ZNF440	19	11942915	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		11942915	47186068	62	12220										
MAP1S	55201	genome.wustl.edu	37	chr19	17836950	17836950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccctggaggcctcggggatGccgccttcttcgccgtcaat	12	15	2	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:17836950G>A	ENST00000324096.4	+	5	908	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.A227T|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	253	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCTCGGGGATGCCGCCTTCTT	0.667																																																	0													37	34	35					19																	17836950		2203	4300	6503	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.757G>A	19.37:g.17836950G>A	ENSP00000325313:p.Ala253Thr		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.A253T	ENST00000324096.4	37	c.757	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994856	0.35226	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20332	2.08;2.08	4.39	3.26	0.37387	.	0.157097	0.29646	N	0.011564	T	0.32010	0.0815	M	0.69823	2.125	0.41272	D	0.986851	D;D;P	0.56287	0.975;0.975;0.95	P;P;P	0.52066	0.591;0.591;0.689	T	0.14952	-1.0454	10	0.87932	D	0	-23.9373	8.8892	0.35423	0.0:0.0:0.6364:0.3636	.	227;253;253	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	T	253;227	ENSP00000325313:A253T;ENSP00000439243:A227T	ENSP00000325313:A253T	A	+	1	0	MAP1S	17697950	0.331000	0.24713	0.064000	0.19789	0.040000	0.13550	1.148000	0.31614	1.979000	0.57680	0.561000	0.74099	GCC	MAP1S	-	NULL		0.667	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17836950	1	no_errors	ENST00000324096	ensembl	human	known	70_37	missense	SNP	0.752	A	A	17836950	G	A	17836950	3	1	78	1	0	0	0	0	1	0	0	0	9257	1319	46	4	775	4	MAP1S	19	17836950	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	5894035	17836950	41292033	63	12221										
ZNF527	84503	genome.wustl.edu	37	chr19	37879760	37879760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	acatcagaccactcattttgGaaaattaccccatggatacg	6	11	2	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:37879760G>A	ENST00000436120.2	+	5	916	c.809G>A	c.(808-810)gGa>gAa	p.G270E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCATTTTGGAAAATTACCC	0.378																																																	0													114	104	107					19																	37879760		1914	4148	6062	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.809G>A	19.37:g.37879760G>A	ENSP00000390179:p.Gly270Glu		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G270E	ENST00000436120.2	37	c.809	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486430	0.63962	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	0.564	0.17302	.	0.488998	0.15386	N	0.265083	T	0.61098	0.2320	M	0.87328	2.875	0.58432	D	0.999998	B;B	0.23185	0.081;0.056	B;B	0.24848	0.041;0.056	T	0.61068	-0.7137	9	0.72032	D	0.01	.	3.7526	0.08572	0.0944:0.1624:0.5757:0.1675	.	270;238	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	E	270;238;218	.	ENSP00000325231:G238E	G	+	2	0	ZNF527	42571600	1.000000	0.71417	0.002000	0.10522	0.970000	0.65996	3.201000	0.51059	0.411000	0.25702	0.655000	0.94253	GGA	ZNF527	-	NULL		0.378	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	G	NM_032453		37879760	1	no_errors	ENST00000436120	ensembl	human	known	70_37	missense	SNP	0.730	A	A	37879760	G	A	37879760	3	1	78	1	0	0	0	0	1	0	0	0	17998	1174	41	1	823	1	ZNF527	19	37879760	Missense_Mutation	SNP	G	TCGA-EA-A410-01A-11D-A243-09	20042810	37879760	21249223	64	12222										
SFRS16	11129	genome.wustl.edu	37	chr19	45570740	45570745	+	In_Frame_Del	DEL	AGCCAG	AGCCAG	-													0	0	1	0	NA	0	1	1	0	gcagccatagccccagccccAgccagagccgcagccgcagc					rs532163167|rs566205384|rs375251030	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	AGCCAG	AGCCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:45570740_45570745delAGCCAG	ENST00000221455.3	+	14	1653_1658	c.1555_1560delAGCCAG	c.(1555-1560)agccagdel	p.SQ519del	CLASRP_ENST00000391953.4_In_Frame_Del_p.SQ457del|CLASRP_ENST00000544944.2_In_Frame_Del_p.SQ519del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	519	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ccccagccccagccagagccgcagcc	0.723																																																	0																																										SO:0001651	inframe_deletion	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1555_1560delAGCCAG	19.37:g.45570740_45570745delAGCCAG	ENSP00000221455:p.Ser519_Gln520del		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	pfam_SWAP_N_domain	p.QS520in_frame_del	ENST00000221455.3	37	c.1555_1560	CCDS12652.2	19																																																																																			CLASRP	-	NULL		0.723	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	AGCCAG	NM_007056		45570745	1	no_errors	ENST00000221455	ensembl	human	known	70_37	in_frame_del	DEL	0.016:0.023:0.005:0.002:0.000:0.001	-	-	45570745	AGCCAG	-	45570740	7	5	78	1	0	1	0	1	0	0	0	0	14202	188	7	0	1605	0	SFRS16	19	45570740	In_Frame_Del	DEL	AGCCAG	TCGA-EA-A410-01A-11D-A243-09	7690980	45570740	13558243	65	12223										
IL4I1	259307	genome.wustl.edu	37	chr19	50398358	50398359	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	NA	0	1	1	0	catgcgcatggctcccagctINSccccaatccagcccgtgttc							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:50398358_50398359insC	ENST00000391826.2	-	4	473_474	c.331_332insG	c.(331-333)gagfs	p.E111fs	IL4I1_ENST00000595948.1_Frame_Shift_Ins_p.E133fs|IL4I1_ENST00000341114.3_Frame_Shift_Ins_p.E133fs	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	111						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GGCTCCCAGCTCCCCAATCCAG	0.634																																																	0																																										SO:0001589	frameshift_variant	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.332dupG	19.37:g.50398362_50398362dupC	ENSP00000375702:p.Glu111fs		Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Frame_Shift_Ins	INS	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.E133fs	ENST00000391826.2	37	c.398_397	CCDS12787.1	19																																																																																			IL4I1	-	pfam_Amino_oxidase		0.634	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1	-			50398359	-1	no_errors	ENST00000341114	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.995	C	C	50398359	-	C	50398358	7	5	78	1	0	1	1	0	0	0	0	0	7717	1551	54	0	1391	0	IL4I1	19	50398358	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	4827618	50398358	8730625	66	12224										
EPN1	29924	genome.wustl.edu	37	chr19	56206237	56206237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acgccccccacccggaagacGccggagtcattcctggggcc	12	18	1	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:56206237G>A	ENST00000270460.6	+	10	1721	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	AC010525.7_ENST00000589698.1_lincRNA|EPN1_ENST00000085079.7_Silent_p.T444T|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Silent_p.T556T|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	470	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCGGAAGACGCCGGAGTCAT	0.701																																																	0													19	30	26					19																	56206237		2090	4203	6293	SO:0001819	synonymous_variant	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1410G>A	19.37:g.56206237G>A			Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.T556	ENST00000270460.6	37	c.1668	CCDS46199.1	19																																																																																			EPN1	-	NULL		0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	G	NM_013333		56206237	1	no_errors	ENST00000411543	ensembl	human	known	70_37	silent	SNP	0.168	A	A	56206237	G	A	56206237	2	1	78	1	0	0	0	0	0	0	0	1	5197	1074	38	2		2	EPN1	19	56206237	Silent	SNP	G	TCGA-EA-A410-01A-11D-A243-09	5807879	56206237	2922746	67	12225										
CDK5RAP1	51654	genome.wustl.edu	37	chr20	31984665	31984665	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaggagctgaggcactttttAaaaaatgttgaaaagtcggt	12	4	0	2			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:31984665A>T	ENST00000357886.4	-	2	359	c.206T>A	c.(205-207)tTa>tAa	p.L69*	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.L69*|CDK5RAP1_ENST00000339269.5_Nonsense_Mutation_p.L69*|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.L69*			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	69	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGCACTTTTTAAAAAATGTTG	0.502																																																	0													93	95	94					20																	31984665		2203	4300	6503	SO:0001587	stop_gained	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.206T>A	20.37:g.31984665A>T	ENSP00000350558:p.Leu69*		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.L69*	ENST00000357886.4	37	c.206		20	.	.	.	.	.	.	.	.	.	.	A	37	6.111396	0.97291	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	5.42	0.78866	.	0.061993	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3795	11.7722	0.51965	1.0:0.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000341840:L69X	L	-	2	0	CDK5RAP1	31448326	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.325000	0.59234	2.279000	0.76181	0.402000	0.26972	TTA	CDK5RAP1	-	NULL		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	A	NM_016408		31984665	-1	no_errors	ENST00000357886	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	31984665	A	T	31984665	4	4	78	1	0	0	0	0	0	1	0	0	3150	372	13	5	1609	5	CDK5RAP1	20	31984665	Nonsense_Mutation	SNP	A	TCGA-EA-A410-01A-11D-A243-09		31984665	31040855	68	12226										
MYH7B	26133	genome.wustl.edu	37	chr20	33588263	33588263	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacagaggcccaggctgccaCgcggctgatgcaggcacagc	14	15	0	2	rs200207301	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:33588263C>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.T1692M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGGCTGCCACGCGGCTGATG	0.687													C|||	3	0.000599042	8e-04	0.0014	5008	,	,		16374	0		0	False		,,,				2504	0.001																0																																										SO:0001628	intergenic_variant	57644			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588263C>T			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1692M	ENST00000252015.2	37	c.5075	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027886	0.35797	.	.	ENSG00000078814	ENST00000262873	T	0.77750	-1.12	4.37	4.37	0.52481	Myosin tail (1);	0.000000	0.39020	N	0.001497	T	0.49558	0.1564	N	0.02802	-0.49	0.25280	N	0.989446	B	0.27732	0.187	B	0.14023	0.01	T	0.43114	-0.9411	10	0.62326	D	0.03	.	5.8934	0.18925	0.0:0.6658:0.1663:0.168	.	1650	A7E2Y1	MYH7B_HUMAN	M	1692	ENSP00000262873:T1692M	ENSP00000262873:T1692M	T	+	2	0	MYH7B	33051924	0.000000	0.05858	0.960000	0.40013	0.988000	0.76386	0.369000	0.20416	2.272000	0.75746	0.558000	0.71614	ACG	MYH7B	-	pfam_Myosin_tail,superfamily_t-SNARE		0.687	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078832.2	C	NM_015638		33588263	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	0.905	T	T	33588263	C	T	33588263	1	4	78	0	1	0	0	0	0	0	0	0	10063	536	19	2		2	MYH7B	20	33588263	IGR	SNP	C	TCGA-EA-A410-01A-11D-A243-09	1603598	33588263	29437257	69	12227										
KCNG1	3755	genome.wustl.edu	37	chr20	49621098	49621098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcccgcagcacgcgcagcacCagccccaccttgtccaggta	10	19	0	0			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:49621098C>T	ENST00000371571.4	-	3	1305	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	340					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCGCAGCACCAGCCCCACCT	0.726																																																	0													10	13	12					20																	49621098		2163	4173	6336	SO:0001819	synonymous_variant	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1020G>A	20.37:g.49621098C>T			A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.L340	ENST00000371571.4	37	c.1020	CCDS13436.1	20																																																																																			KCNG1	-	pfam_Ion_trans_dom		0.726	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	C	NM_002237		49621098	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	silent	SNP	0.999	T	T	49621098	C	T	49621098	2	4	78	1	0	0	0	0	0	0	0	1	8047	581	21	4		4	KCNG1	20	49621098	Silent	SNP	C	TCGA-EA-A410-01A-11D-A243-09	16032835	49621098	13404422	70	12228										
PCNT	5116	genome.wustl.edu	37	chr21	47851552	47851552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcagaaggagctgcgtatcgAgcactcacgctgcgaggcct	14	12	1	1			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr21:47851552A>G	ENST00000359568.5	+	38	8281	c.8174A>G	c.(8173-8175)gAg>gGg	p.E2725G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2725					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGCGTATCGAGCACTCACGC	0.617																																																	0													50	46	48					21																	47851552		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8174A>G	21.37:g.47851552A>G	ENSP00000352572:p.Glu2725Gly		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E2725G	ENST00000359568.5	37	c.8174	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	A	30	5.053274	0.93793	.	.	ENSG00000160299	ENST00000359568	T	0.10860	2.83	5.32	5.32	0.75619	.	0.000000	0.34411	N	0.003981	T	0.32734	0.0839	M	0.70275	2.135	0.43421	D	0.995571	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.03852	-1.0998	10	0.72032	D	0.01	.	14.7759	0.69732	1.0:0.0:0.0:0.0	.	2607;2725	O95613-2;O95613	.;PCNT_HUMAN	G	2725	ENSP00000352572:E2725G	ENSP00000352572:E2725G	E	+	2	0	PCNT	46675980	1.000000	0.71417	0.972000	0.41901	0.955000	0.61496	8.384000	0.90160	2.152000	0.67230	0.533000	0.62120	GAG	PCNT	-	NULL		0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	A	NM_006031		47851552	1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47851552	A	G	47851552	3	3	78	1	0	0	0	0	1	0	0	0	11614	304	11	5	8324	5	PCNT	21	47851552	Missense_Mutation	SNP	A	TCGA-EA-A410-01A-11D-A243-09		47851552	278343	71	12229										
PI4KA	5297	genome.wustl.edu	37	chr22	21065052	21065053	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	NA	0	1	1	0	agggtgtggcctccatcttgINSccccccatgatcatcaccat							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:21065052_21065053insC	ENST00000572273.1	-	52	6073_6074	c.5843_5844insG	c.(5842-5844)ggcfs	p.G1948fs	PI4KA_ENST00000414196.3_Frame_Shift_Ins_p.G758fs|PI4KA_ENST00000255882.6_Frame_Shift_Ins_p.G2006fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1948	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.G1948V(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTCCATCTTGCCCCCCATGAT	0.594																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - Missense(2)	endometrium(2)																																								SO:0001589	frameshift_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5844dupG	22.37:g.21065058_21065058dupC	ENSP00000458238:p.Gly1948fs		Q7Z625|Q9UPG2	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K2007fs	ENST00000572273.1	37	c.6018_6017		22																																																																																			PI4KA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.594	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	NM_058004		21065053	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	21065053	-	C	21065052	7	5	78	1	0	1	1	0	0	0	0	0	11897	1306	46	0	306	0	PI4KA	22	21065052	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		21065052	30239514	72	12230										
XRCC6	2547	genome.wustl.edu	37	chr22	42042909	42042910	+	Frame_Shift_Ins	INS	-	-	AA													0	0	1	0	NA	0	1	1	0	actccctcaggttaaagctgINSaagctcaacaaagatatagt							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:42042909_42042910insAA	ENST00000359308.4	+	6	1438_1439	c.783_784insAA	c.(784-786)aagfs	p.K262fs	XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.K262fs|XRCC6_ENST00000428575.2_Frame_Shift_Ins_p.K129fs|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.K221fs|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000405506.1_Frame_Shift_Ins_p.K212fs|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.K262fs			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	262	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.L261L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTAAAGCTGAAGCTCAACAA	0.386								Non-homologous end-joining																																									1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.784_785dupAA	22.37:g.42042910_42042911dupAA	ENSP00000352257:p.Lys262fs		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Frame_Shift_Ins	INS	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70	p.L262fs	ENST00000359308.4	37	c.783_784	CCDS14021.1	22																																																																																			XRCC6	-	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,tigrfam_DNA_helicase_ATP-dep_Ku70		0.386	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	-	NM_001469		42042910	1	no_errors	ENST00000359308	ensembl	human	known	70_37	frame_shift_ins	INS	0.444:0.469	AA	AA	42042910	-	AA	42042909	7	5	78	1	0	1	1	0	0	0	0	0	17488	1277	45	0	805	0	XRCC6	22	42042909	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	20977857	42042909	9261657	73	12231										
SAPS2	9701	genome.wustl.edu	37	chr22	50877166	50877166	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	gcccccgggaagaaggaagcGccccctgtggagggtgactc					rs4824131	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:50877166delG	ENST00000216061.5	+	20	2473	c.2103delG	c.(2101-2103)gcgfs	p.A701fs	PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A674fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A675fs|PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A674fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	701						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGAAGGAAGCGCCCCCTGTGG	0.672																																																	0													18	19	19					22																	50877166		2197	4298	6495	SO:0001589	frameshift_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2103delG	22.37:g.50877166delG	ENSP00000216061:p.Ala701fs		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.P703fs	ENST00000216061.5	37	c.2103		22																																																																																			PPP6R2	-	NULL		0.672	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	G	NM_014678		50877166	1	no_errors	ENST00000216061	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	50877166	G	-	50877166	7	5	78	1	0	1	0	1	0	0	0	0	13867	1074	38	0	2084	0	SAPS2	22	50877166	Frame_Shift_Del	DEL	G	TCGA-EA-A410-01A-11D-A243-09	8834257	50877166	427400	74	12232										
HEPH	9843	genome.wustl.edu	37	chrX	65486413	65486414	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	tctgctcgttgttctggctcINSttggtggagtggtttggtac							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chrX:65486413_65486414insT	ENST00000343002.2	+	20	4040_4041	c.3376_3377insT	c.(3376-3378)cttfs	p.L1126fs	HEPH_ENST00000336279.5_Frame_Shift_Ins_p.L859fs|HEPH_ENST00000441993.2_Frame_Shift_Ins_p.L1128fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.L937fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.L1129fs|HEPH_ENST00000519389.1_Frame_Shift_Ins_p.L1180fs			Q9BQS7	HEPH_HUMAN	hephaestin	1126					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGTTCTGGCTCTTGGTGGAGTG	0.48																																																	0																																										SO:0001589	frameshift_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3378dupT	X.37:g.65486415_65486415dupT	ENSP00000343939:p.Leu1126fs		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.G1181fs	ENST00000343002.2	37	c.3538_3539		X																																																																																			HEPH	-	NULL		0.48	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	NM_138737		65486414	1	no_errors	ENST00000519389	ensembl	human	known	70_37	frame_shift_ins	INS	0.405:0.385	T	T	65486414	-	T	65486413	7	5	78	1	0	1	1	0	0	0	0	0	7074	913	32	0	3620	0	HEPH	23	65486413	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09		65486413	89784147	75	12233										
ARR3	407	genome.wustl.edu	37	chrX	69497631	69497632	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	NA	0	1	1	0	actgcaccaacaaggtcatcINSaaaaaaatcaagatttcagg							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chrX:69497631_69497632insA	ENST00000307959.8	+	10	726_727	c.675_676insA	c.(676-678)aaafs	p.K226fs	ARR3_ENST00000374495.3_Frame_Shift_Ins_p.K226fs	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	226					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACAAGGTCATCAAAAAAATCAA	0.465																																																	0																																										SO:0001589	frameshift_variant	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.682dupA	X.37:g.69497638_69497638dupA	ENSP00000311538:p.Lys226fs		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Frame_Shift_Ins	INS	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.I227fs	ENST00000307959.8	37	c.675_676	CCDS14399.1	X																																																																																			ARR3	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.465	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2	-	NM_004312		69497632	1	no_errors	ENST00000307959	ensembl	human	known	70_37	frame_shift_ins	INS	0.996:1.000	A	A	69497632	-	A	69497631	7	5	78	1	0	1	1	0	0	0	0	0	980	816	29	0	709	0	ARR3	23	69497631	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	4011218	69497631	85772929	76	12234										
SLITRK2	84631	genome.wustl.edu	37	chrX	144904117	144904118	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	NA	0	1	1	0	caacagttagcctgctccagINScccccccagtatcgaatcta							TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chrX:144904117_144904118insC	ENST00000370490.1	+	1	4429_4430	c.174_175insC	c.(175-177)cccfs	p.P59fs	SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.P59fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	59					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCTCCAGCCCCCCCAGTA	0.431																																																	0																																										SO:0001589	frameshift_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.181dupC	X.37:g.144904124_144904124dupC	ENSP00000359521:p.Pro59fs		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q60fs	ENST00000370490.1	37	c.174_175	CCDS14680.1	X																																																																																			SLITRK2	-	smart_LRR-contain_N		0.431	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	NM_032539		144904118	1	no_errors	ENST00000370490	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	144904118	-	C	144904117	7	5	78	1	0	1	1	0	0	0	0	0	14773	962	34	0	176	0	SLITRK2	23	144904117	Frame_Shift_Ins	INS	-	TCGA-EA-A410-01A-11D-A243-09	75406486	144904117	10366443	77	12235										
DHRS3	9249	genome.wustl.edu	37	chr1	12632817	12632817	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gaggagggcctggttgagctGcacagcttccactgtcctcc	13	13	0	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:12632817G>A	ENST00000376223.2	-	5	1146	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	255					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGGTTGAGCTGCACAGCTTCC	0.572																																																	0													68	57	61					1																	12632817		2203	4300	6503	SO:0001587	stop_gained	9249			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.763C>T	1.37:g.12632817G>A	ENSP00000365397:p.Gln255*		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Q255*	ENST00000376223.2	37	c.763	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.484878	0.98312	.	.	ENSG00000162496	ENST00000376223	.	.	.	4.74	4.74	0.60224	.	0.114181	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1364	0.89620	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000365397:Q255X	Q	-	1	0	DHRS3	12555404	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.725000	0.68507	2.356000	0.79943	0.563000	0.77884	CAG	DHRS3	-	NULL		0.572	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	G	NM_004753		12632817	-1	no_errors	ENST00000376223	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	12632817	G	A	12632817	4	1	79	1	0	0	0	0	0	1	0	0	4501	1328	46	4	153	4	DHRS3	1	12632817	Nonsense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09		12632817	236617804	1	12236										
C1QC	714	genome.wustl.edu	37	chr1	22974214	22974214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tggctgtcaatgactactacGacatggtgggcatccagggc	13	10	1	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:22974214G>A	ENST00000374639.3	+	3	794	c.676G>A	c.(676-678)Gac>Aac	p.D226N	C1QC_ENST00000374640.4_Missense_Mutation_p.D226N|C1QC_ENST00000374637.1_Missense_Mutation_p.D226N	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	226	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGACTACTACGACATGGTGGG	0.632																																					Ovarian(26;671 750 8290 29071 43278)												0													104	101	102					1																	22974214		2203	4300	6503	SO:0001583	missense	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.676G>A	1.37:g.22974214G>A	ENSP00000363770:p.Asp226Asn		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D226N	ENST00000374639.3	37	c.676	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363082	0.41902	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.74842	-0.88;-0.88;-0.88	4.79	4.79	0.61399	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.105855	0.64402	D	0.000004	T	0.52709	0.1751	N	0.02539	-0.55	0.22305	N	0.999213	B	0.09022	0.002	B	0.01281	0.0	T	0.52830	-0.8523	10	0.56958	D	0.05	.	16.3983	0.83631	0.0:0.0:1.0:0.0	.	226	P02747	C1QC_HUMAN	N	226	ENSP00000363771:D226N;ENSP00000363770:D226N;ENSP00000363768:D226N	ENSP00000363768:D226N	D	+	1	0	C1QC	22846801	1.000000	0.71417	0.988000	0.46212	0.296000	0.27459	4.010000	0.57117	2.198000	0.70561	0.561000	0.74099	GAC	C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	G	NM_172369		22974214	1	no_errors	ENST00000374637	ensembl	human	known	70_37	missense	SNP	0.998	A	A	22974214	G	A	22974214	3	1	79	1	0	0	0	0	1	0	0	0	1962	1058	37	1	682	1	C1QC	1	22974214	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	10341397	22974214	226276407	2	12237										
EPHA10	284656	genome.wustl.edu	37	chr1	38227721	38227721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	cttggtacgtgcggatgggaCggtcgtgttcatccacgccg	15	11	1	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:38227721C>T	ENST00000373048.4	-	3	205	c.206G>A	c.(205-207)cGt>cAt	p.R69H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R69H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R69H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGGATGGGACGGTCGTGTTC	0.622																																																	0													76	62	67					1																	38227721		2203	4300	6503	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.206G>A	1.37:g.38227721C>T	ENSP00000362139:p.Arg69His		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R69H	ENST00000373048.4	37	c.206	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364422	0.61513	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03717	3.83;3.83;3.83	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.34853	N	0.003624	T	0.08846	0.0219	L	0.31845	0.965	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.62491	0.903;0.686	T	0.07271	-1.0781	10	0.62326	D	0.03	.	12.2331	0.54499	0.0:0.913:0.0:0.087	.	69;69	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	69	ENSP00000397746:R69H;ENSP00000362139:R69H;ENSP00000316395:R69H	ENSP00000316395:R69H	R	-	2	0	EPHA10	38000308	0.121000	0.22262	0.999000	0.59377	0.986000	0.74619	0.341000	0.19909	2.448000	0.82819	0.549000	0.68633	CGT	EPHA10	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.622	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	C	NM_173641		38227721	-1	no_errors	ENST00000427468	ensembl	human	known	70_37	missense	SNP	0.984	T	T	38227721	C	T	38227721	3	4	79	1	0	0	0	0	1	0	0	0	5178	536	19	2	2918	2	EPHA10	1	38227721	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	15253507	38227721	211022900	3	12238										
LYPLAL1	127018	genome.wustl.edu	37	chr1	219347236	219347236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tggcagtggcatcagcgatgGcggctgcgtcggggtcggtt	19	9	1	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:219347236G>A	ENST00000366928.5	+	1	51	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	LYPLAL1_ENST00000366927.3_Missense_Mutation_p.A2T|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	2					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		ATCAGCGATGGCGGCTGCGTC	0.672																																																	0													45	42	43					1																	219347236		2200	4295	6495	SO:0001583	missense	127018			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.4G>A	1.37:g.219347236G>A	ENSP00000355895:p.Ala2Thr		A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put	p.A2T	ENST00000366928.5	37	c.4	CCDS1522.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.612468	0.96637	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.24908	1.89;1.83	4.44	3.52	0.40303	.	0.389129	0.24010	N	0.042390	T	0.19725	0.0474	L	0.36672	1.1	0.29074	N	0.883106	P;P	0.41313	0.745;0.629	B;B	0.39904	0.313;0.166	T	0.07597	-1.0764	10	0.51188	T	0.08	.	8.402	0.32592	0.1083:0.0:0.8917:0.0	.	2;2	Q5VWZ2-2;Q5VWZ2	.;LYPL1_HUMAN	T	2	ENSP00000355895:A2T;ENSP00000355894:A2T	ENSP00000355894:A2T	A	+	1	0	LYPLAL1	217413859	0.998000	0.40836	0.970000	0.41538	0.559000	0.35586	2.444000	0.44890	1.238000	0.43771	0.591000	0.81541	GCG	LYPLAL1	-	NULL		0.672	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	G	NM_138794		219347236	1	no_errors	ENST00000366928	ensembl	human	known	70_37	missense	SNP	0.776	A	A	219347236	G	A	219347236	3	1	79	1	0	0	0	0	1	0	0	0	9141	1203	42	4	6	4	LYPLAL1	1	219347236	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	181119515	219347236	29903385	4	12239										
NLRP3	114548	genome.wustl.edu	37	chr1	247587315	247587315	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gagcaggagcttctggccatCggcaagaccaagacgtgtga	14	10	1	3	rs147631017		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:247587315C>T	ENST00000336119.3	+	3	1316	c.570C>T	c.(568-570)atC>atT	p.I190I	NLRP3_ENST00000366497.2_Silent_p.I190I|NLRP3_ENST00000391828.3_Silent_p.I190I|NLRP3_ENST00000348069.2_Silent_p.I190I|NLRP3_ENST00000391827.2_Silent_p.I190I|NLRP3_ENST00000366496.2_Silent_p.I190I|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	190					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCTGGCCATCGGCAAGACCA	0.572																																																	0								T	,,,,	0,4406		0,0,2203	71	61	65		570,570,570,570,570	-8.5	0	1	dbSNP_134	65	3,8597	818.8+/-406.8	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,	190/1037,190/980,190/980,190/1037,190/923	247587315	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.570C>T	1.37:g.247587315C>T			B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I190	ENST00000336119.3	37	c.570	CCDS1632.1	1																																																																																			NLRP3	-	NULL		0.572	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	C	NM_004895		247587315	1	no_errors	ENST00000336119	ensembl	human	known	70_37	silent	SNP	0.002	T	T	247587315	C	T	247587315	2	4	79	1	0	0	0	0	0	0	0	1	10502	874	31	1		1	NLRP3	1	247587315	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09	28240079	247587315	1663306	5	12240										
SPAST	6683	genome.wustl.edu	37	chr2	32339750	32339750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	aaagaccccttaacacacacTagtaattcactgcctcgttc	4	14	1	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:32339750T>C	ENST00000315285.3	+	5	851	c.726T>C	c.(724-726)acT>acC	p.T242T	SPAST_ENST00000345662.1_Silent_p.T210T	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAACACACACTAGTAATTCAC	0.393																																																	0													77	79	78					2																	32339750		2203	4300	6503	SO:0001819	synonymous_variant	6683			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.726T>C	2.37:g.32339750T>C				Silent	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.T242	ENST00000315285.3	37	c.726	CCDS1778.1	2																																																																																			SPAST	-	pirsf_Spastin		0.393	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1	T	NM_199436		32339750	1	no_errors	ENST00000315285	ensembl	human	known	70_37	silent	SNP	0.999	C	C	32339750	T	C	32339750	2	2	79	1	0	0	0	0	0	0	0	1	15027	1509	53	5		5	SPAST	2	32339750	Silent	SNP	T	TCGA-EA-A411-01A-11D-A243-09		32339750	210859623	6	12241										
GPR45	11250	genome.wustl.edu	37	chr2	105858468	105858468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	accgtggtggggttcctgggCaacactgtggtctgcatcat	14	10	2	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:105858468C>A	ENST00000258456.1	+	1	269	c.153C>A	c.(151-153)ggC>ggA	p.G51G		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGTTCCTGGGCAACACTGTGG	0.627																																																	0													142	125	130					2																	105858468		2203	4300	6503	SO:0001819	synonymous_variant	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.153C>A	2.37:g.105858468C>A			Q6NWS4|Q6NXU6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G51	ENST00000258456.1	37	c.153	CCDS2066.1	2																																																																																			GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	C	NM_007227		105858468	1	no_errors	ENST00000258456	ensembl	human	known	70_37	silent	SNP	1.000	A	A	105858468	C	A	105858468	2	1	79	1	0	0	0	0	0	0	0	1	6715	697	25	4		4	GPR45	2	105858468	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09	73518718	105858468	137340905	7	12242										
TLK1	9874	genome.wustl.edu	37	chr2	171906600	171906600	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	aataagaagtttcttgctcaTtgatatgcacttatttaatc	5	6	2	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:171906600T>G	ENST00000431350.2	-	9	1221	c.817A>C	c.(817-819)Atg>Ctg	p.M273L	TLK1_ENST00000521943.1_Missense_Mutation_p.M225L|TLK1_ENST00000442919.2_Missense_Mutation_p.M225L|TLK1_ENST00000360843.3_Missense_Mutation_p.M294L|TLK1_ENST00000434911.2_Missense_Mutation_p.M177L			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	273					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCTTGCTCATTGATATGCAC	0.313																																																	0													107	100	103					2																	171906600		2200	4299	6499	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.817A>C	2.37:g.171906600T>G	ENSP00000411099:p.Met273Leu		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	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.M273L	ENST00000431350.2	37	c.817	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327382	0.60743	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.61627	0.13;0.1;0.09;0.13;0.12	6.03	6.03	0.97812	.	0.036475	0.85682	D	0.000000	T	0.72969	0.3527	M	0.62723	1.935	0.80722	D	1	B;B;P	0.48016	0.112;0.094;0.904	B;B;D	0.64410	0.05;0.171;0.925	T	0.71076	-0.4697	10	0.39692	T	0.17	-11.1474	16.5655	0.84588	0.0:0.0:0.0:1.0	.	177;294;273	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	L	225;273;294;225;177	ENSP00000402165:M225L;ENSP00000411099:M273L;ENSP00000354089:M294L;ENSP00000428113:M225L;ENSP00000409222:M177L	ENSP00000354089:M294L	M	-	1	0	TLK1	171614846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	ATG	TLK1	-	NULL		0.313	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	T	NM_012290		171906600	-1	no_errors	ENST00000431350	ensembl	human	known	70_37	missense	SNP	1.000	G	G	171906600	T	G	171906600	3	3	79	1	0	0	0	0	1	0	0	0	15973	1493	52	5	1535	5	TLK1	2	171906600	Missense_Mutation	SNP	T	TCGA-EA-A411-01A-11D-A243-09	66048132	171906600	71292773	8	12243										
OXSR1	9943	genome.wustl.edu	37	chr3	38232252	38232252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	aagccatgagtcaatgccatCatcctaatattgtatcttac	5	10	3	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr3:38232252C>G	ENST00000446845.1	+	3	586	c.214C>G	c.(214-216)Cat>Gat	p.H72D	OXSR1_ENST00000311806.3_Missense_Mutation_p.H72D					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCAATGCCATCATCCTAATAT	0.353																																																	0													112	102	105					3																	38232252		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.214C>G	3.37:g.38232252C>G	ENSP00000415851:p.His72Asp			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H72D	ENST00000446845.1	37	c.214		3	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642715	0.87859	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93178	0.6572	10	0.87932	D	0	-13.4868	18.1113	0.89537	0.0:1.0:0.0:0.0	.	72	O95747	OXSR1_HUMAN	D	72	ENSP00000415851:H72D;ENSP00000311713:H72D	ENSP00000311713:H72D	H	+	1	0	OXSR1	38207256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.215000	0.77966	2.704000	0.92352	0.655000	0.94253	CAT	OXSR1	-	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		0.353	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	C	NM_005109		38232252	1	no_errors	ENST00000311806	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38232252	C	G	38232252	3	3	79	1	0	0	0	0	1	0	0	0	11360	826	29	1	224	1	OXSR1	3	38232252	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09		38232252	159790178	9	12244										
CACNA2D3	55799	genome.wustl.edu	37	chr3	55107570	55107570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ggcccccatcaccatggcacCcattgaaatcaggtatatcc	7	15	2	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr3:55107570C>T	ENST00000474759.1	+	36	3134	c.3086C>T	c.(3085-3087)cCc>cTc	p.P1029L	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P935L|CACNA2D3_ENST00000478261.1_Intron|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P1029L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P1029L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1029						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACCATGGCACCCATTGAAATC	0.507																																																	0													88	85	86					3																	55107570		1992	4175	6167	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3086C>T	3.37:g.55107570C>T	ENSP00000419101:p.Pro1029Leu		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P1029L	ENST00000474759.1	37	c.3086	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008609	0.93346	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.70595	2.14	0.80722	D	1	P	0.51791	0.948	P	0.52627	0.704	T	0.65051	-0.6262	10	0.72032	D	0.01	.	18.2592	0.90028	0.0:1.0:0.0:0.0	.	1029	Q8IZS8	CA2D3_HUMAN	L	1029;1029;1029;935;935	ENSP00000389506:P1029L;ENSP00000419101:P1029L;ENSP00000288197:P1029L;ENSP00000417279:P935L	ENSP00000288197:P1029L	P	+	2	0	CACNA2D3	55082610	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.455000	0.80726	2.750000	0.94351	0.637000	0.83480	CCC	CACNA2D3	-	NULL		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			55107570	1	no_errors	ENST00000288197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55107570	C	T	55107570	3	4	79	1	0	0	0	0	1	0	0	0	2555	623	22	4	3228	4	CACNA2D3	3	55107570	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	16875318	55107570	142914860	10	12245										
PDIA5	10954	genome.wustl.edu	37	chr3	122869160	122869160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	acctggtgggggacaacttcCgggagaccctgaagaagaag	15	9	0	4			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr3:122869160C>T	ENST00000316218.7	+	14	1317	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	408	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GGACAACTTCCGGGAGACCCT	0.602																																																	0													94	87	89					3																	122869160		2203	4300	6503	SO:0001583	missense	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1222C>T	3.37:g.122869160C>T	ENSP00000323313:p.Arg408Trp		D3DN95|Q9BV43	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.R408W	ENST00000316218.7	37	c.1222	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874570	0.72180	.	.	ENSG00000065485	ENST00000316218	T	0.03468	3.92	4.36	4.36	0.52297	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.11750	0.0286	L	0.55103	1.725	0.58432	D	0.999998	D	0.89917	1.0	D	0.68192	0.956	T	0.00346	-1.1800	10	0.72032	D	0.01	.	9.9405	0.41578	0.2643:0.7357:0.0:0.0	.	408	Q14554	PDIA5_HUMAN	W	408	ENSP00000323313:R408W	ENSP00000323313:R408W	R	+	1	2	PDIA5	124351850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	2.259000	0.74868	0.655000	0.94253	CGG	PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.602	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	C	NM_006810		122869160	1	no_errors	ENST00000316218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122869160	C	T	122869160	3	4	79	1	0	0	0	0	1	0	0	0	11695	643	23	2	1276	2	PDIA5	3	122869160	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	67761590	122869160	75153270	11	12246										
AFM	173	genome.wustl.edu	37	chr4	74354469	74354469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ggatgttgtgcagtgcatccGtgacacggtgaatattctct	12	8	1	2	rs149021212		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr4:74354469G>T	ENST00000226355.3	+	7	929	c.836G>T	c.(835-837)cGt>cTt	p.R279L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	279	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTGCATCCGTGACACGGTG	0.363																																																	0													139	139	139					4																	74354469		2203	4300	6503	SO:0001583	missense	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.836G>T	4.37:g.74354469G>T	ENSP00000226355:p.Arg279Leu		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin,prints_Alpha-fetoprotein	p.R279L	ENST00000226355.3	37	c.836	CCDS3557.1	4	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606514	0.28623	.	.	ENSG00000079557	ENST00000226355	T	0.73363	-0.74	5.27	-3.65	0.04502	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.769783	0.12691	N	0.447209	T	0.63954	0.2555	L	0.43646	1.37	0.09310	N	1	B	0.25904	0.137	B	0.26094	0.066	T	0.54180	-0.8332	10	0.72032	D	0.01	.	12.024	0.53360	0.5981:0.0:0.4019:0.0	.	279	P43652	AFAM_HUMAN	L	279	ENSP00000226355:R279L	ENSP00000226355:R279L	R	+	2	0	AFM	74573333	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.456000	0.02377	-0.946000	0.03677	0.655000	0.94253	CGT	AFM	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.363	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	HGNC	protein_coding	OTTHUMT00000252275.2	G			74354469	1	no_errors	ENST00000226355	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74354469	G	T	74354469	3	4	79	1	0	0	0	0	1	0	0	0	361	1145	40	2	862	2	AFM	4	74354469	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09		74354469	116799807	12	12247										
ADCY2	108	genome.wustl.edu	37	chr5	7396481	7396481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gaggcggcgggcggcggagaCgggctgccgcggtcccggga	23	12	0	1	rs530639895	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr5:7396481C>T	ENST00000338316.4	+	1	161	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	24					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGGCGGAGACGGGCTGCCGC	0.721													C|||	4	0.000798722	0	0	5008	,	,		3463	0.004		0	False		,,,				2504	0																0													17	16	16					5																	7396481		2170	4260	6430	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.72C>T	5.37:g.7396481C>T			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D24	ENST00000338316.4	37	c.72	CCDS3872.2	5																																																																																			ADCY2	-	NULL		0.721	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7396481	1	no_errors	ENST00000338316	ensembl	human	known	70_37	silent	SNP	0.030	T	T	7396481	C	T	7396481	2	4	79	1	0	0	0	0	0	0	0	1	294	535	19	2		2	ADCY2	5	7396481	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09		7396481	173518779	13	12248										
AP3S1	1176	genome.wustl.edu	37	chr5	115238600	115238600	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	aggttcacaatattcttgcaGaaatggtgatggggggaatg	14	4	2	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr5:115238600G>A	ENST00000316788.7	+	5	921	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	AP3S1_ENST00000505423.1_Intron	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	122					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TATTCTTGCAGAAATGGTGAT	0.318																																																	0													77	75	76					5																	115238600		2202	4300	6502	SO:0001583	missense	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.364G>A	5.37:g.115238600G>A	ENSP00000325369:p.Glu122Lys		O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.E122K	ENST00000316788.7	37	c.364	CCDS4123.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.536794	0.96460	.	.	ENSG00000177879	ENST00000316788	T	0.61510	0.1	5.94	5.94	0.96194	Longin-like (1);AP complex, mu/sigma subunit (1);	0.050313	0.85682	N	0.000000	D	0.85687	0.5754	H	0.98089	4.145	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68765	0.96;0.952	D	0.90270	0.4307	10	0.87932	D	0	-10.6849	19.9544	0.97215	0.0:0.0:1.0:0.0	.	122;122	Q92572;F5H459	AP3S1_HUMAN;.	K	122	ENSP00000325369:E122K	ENSP00000325369:E122K	E	+	1	0	AP3S1	115266499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.775000	0.98995	2.816000	0.96949	0.563000	0.77884	GAA	AP3S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.318	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2	G			115238600	1	no_errors	ENST00000316788	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115238600	G	A	115238600	3	1	79	1	0	0	0	0	1	0	0	0	749	943	33	1	382	1	AP3S1	5	115238600	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	107842119	115238600	65676660	14	12249										
PCDHGB4	8641	genome.wustl.edu	37	chr5	140769353	140769353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	cgtgccttaggcgacagggaCgccgtccgccagcgccttct	13	16	1	0	rs368188508		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr5:140769353C>T	ENST00000519479.1	+	1	1902	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACAGGGACGCCGTCCGCC	0.697																																																	0								C	,,,,,,,,,,,	1,4241		0,1,2120	40	44	43		1902,,,,,,,,,,,1902	3.3	0.9	5		43	0,8454		0,0,4227	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032098.1	,,,,,,,,,,,	0,1,6347	TT,TC,CC		0.0,0.0236,0.0079	,,,,,,,,,,,	634/924,,,,,,,,,,,634/804	140769353	1,12695	2121	4227	6348	SO:0001819	synonymous_variant	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1902C>T	5.37:g.140769353C>T			O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D634	ENST00000519479.1	37	c.1902	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	C	NM_003736		140769353	1	no_errors	ENST00000519479	ensembl	human	known	70_37	silent	SNP	0.954	T	T	140769353	C	T	140769353	2	4	79	1	0	0	0	0	0	0	0	1	11589	535	19	2		2	PCDHGB4	5	140769353	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09	25530753	140769353	40145907	15	12250										
KCNK5	8645	genome.wustl.edu	37	chr6	39158873	39158873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gaggacttggaggtctcctcGtctgagaggccagcctccgt	14	12	2	1	rs144931567		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:39158873G>A	ENST00000359534.3	-	5	1631	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D431D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGTCTCCTCGTCTGAGAGGC	0.632																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	56	54	55		1293	-9.9	0	6	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNK5	NM_003740.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		431/500	39158873	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1293C>T	6.37:g.39158873G>A			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.D431	ENST00000359534.3	37	c.1293	CCDS4841.1	6																																																																																			KCNK5	-	NULL		0.632	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	G	NM_003740		39158873	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	silent	SNP	0.044	A	A	39158873	G	A	39158873	2	1	79	1	0	0	0	0	0	0	0	1	8089	1136	40	2		2	KCNK5	6	39158873	Silent	SNP	G	TCGA-EA-A411-01A-11D-A243-09		39158873	131956194	16	12251										
TDRD6	221400	genome.wustl.edu	37	chr6	46656457	46656457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tgcgggagctgggcctggctCggcgggtgcccgacagcctc	18	14	0	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:46656457C>T	ENST00000316081.6	+	1	592	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R198W	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	198					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGGCCTGGCTCGGCGGGTGCC	0.682																																																	0																																										SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.592C>T	6.37:g.46656457C>T	ENSP00000346065:p.Arg198Trp		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R198W	ENST00000316081.6	37	c.592	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975700	0.34848	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.22539	1.95;1.97	5.97	2.11	0.27256	.	0.111735	0.56097	D	0.000037	T	0.27098	0.0664	M	0.72894	2.215	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.936	T	0.13202	-1.0518	10	0.62326	D	0.03	-7.4778	11.7534	0.51862	0.6061:0.2897:0.1041:0.0	.	198;198	F5H5M3;O60522	.;TDRD6_HUMAN	W	198	ENSP00000443299:R198W;ENSP00000346065:R198W	ENSP00000346065:R198W	R	+	1	2	TDRD6	46764416	0.031000	0.19500	0.454000	0.27019	0.386000	0.30323	1.004000	0.29822	0.095000	0.17434	0.655000	0.94253	CGG	TDRD6	-	NULL		0.682	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	C	XM_166443		46656457	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.040	T	T	46656457	C	T	46656457	3	4	79	1	0	0	0	0	1	0	0	0	15764	875	31	1	594	1	TDRD6	6	46656457	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	7497584	46656457	124458610	17	12252										
EPHA7	2045	genome.wustl.edu	37	chr6	94066638	94066638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gaacacattcgccctgctccCaactgcaccgcttacacaat	5	17	0	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:94066638C>A	ENST00000369303.4	-	5	1305	c.1121G>T	c.(1120-1122)tGg>tTg	p.W374L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	374	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E375fs*14(2)|p.R371fs(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCCCTGCTCCCAACTGCACCG	0.488																																																	3	Complex - frameshift(2)|Complex(1)	central_nervous_system(3)											162	134	143					6																	94066638		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1121G>T	6.37:g.94066638C>A	ENSP00000358309:p.Trp374Leu		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W374L	ENST00000369303.4	37	c.1121	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832905	0.16820	.	.	ENSG00000135333	ENST00000369303	T	0.55930	0.49	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.12569	0.235	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.16571	-1.0398	10	0.11485	T	0.65	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	374;374;374	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	L	374	ENSP00000358309:W374L	ENSP00000358309:W374L	W	-	2	0	EPHA7	94123359	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.968000	0.70413	2.685000	0.91497	0.650000	0.86243	TGG	EPHA7	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.488	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	C			94066638	-1	no_errors	ENST00000369303	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94066638	C	A	94066638	3	1	79	1	0	0	0	0	1	0	0	0	5184	595	21	4	1927	4	EPHA7	6	94066638	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	47410181	94066638	77048429	18	12253										
L3MBTL3	84456	genome.wustl.edu	37	chr6	130392142	130392142	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	cagtgatcccatcgggctttCgagttggtatgaagcttgag	13	8	0	3			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:130392142C>A	ENST00000529410.1	+	15	1593	c.1114C>A	c.(1114-1116)Cga>Aga	p.R372R	L3MBTL3_ENST00000526019.1_Silent_p.R347R|L3MBTL3_ENST00000368136.2_Silent_p.R372R|L3MBTL3_ENST00000533560.1_Silent_p.R347R|L3MBTL3_ENST00000368139.2_Silent_p.R347R|L3MBTL3_ENST00000361794.2_Silent_p.R372R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	372					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATCGGGCTTTCGAGTTGGTAT	0.438																																																	0													227	218	221					6																	130392142		2203	4300	6503	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1114C>A	6.37:g.130392142C>A			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R372	ENST00000529410.1	37	c.1114	CCDS34537.1	6																																																																																			L3MBTL3	-	smart_Mbt,pfscan_Mbt		0.438	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130392142	1	no_errors	ENST00000361794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130392142	C	A	130392142	2	1	79	1	0	0	0	0	0	0	0	1	8613	876	31	3		3	L3MBTL3	6	130392142	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09	36325504	130392142	40722925	19	12254										
NOD1	10392	genome.wustl.edu	37	chr7	30468996	30468996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	cgctgggatcttaccaaatcTctgttatgccagtgttgctc	9	11	2	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr7:30468996T>C	ENST00000222823.4	-	13	3308	c.2783A>G	c.(2782-2784)gAg>gGg	p.E928G		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	928					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTACCAAATCTCTGTTATGCC	0.468																																																	0													299	292	295					7																	30468996		2203	4300	6503	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2783A>G	7.37:g.30468996T>C	ENSP00000222823:p.Glu928Gly		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.E928G	ENST00000222823.4	37	c.2783	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042778	0.36085	.	.	ENSG00000106100	ENST00000222823	T	0.54279	0.58	6.17	6.17	0.99709	.	0.095814	0.64402	D	0.000001	T	0.51584	0.1683	M	0.62154	1.92	0.80722	D	1	P	0.49635	0.926	B	0.41571	0.36	T	0.57219	-0.7849	10	0.52906	T	0.07	.	13.214	0.59844	0.0:0.0:0.0:1.0	.	928	Q9Y239	NOD1_HUMAN	G	928	ENSP00000222823:E928G	ENSP00000222823:E928G	E	-	2	0	NOD1	30435521	1.000000	0.71417	0.992000	0.48379	0.005000	0.04900	5.263000	0.65507	2.371000	0.80710	0.533000	0.62120	GAG	NOD1	-	NULL		0.468	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	T			30468996	-1	no_errors	ENST00000222823	ensembl	human	known	70_37	missense	SNP	0.999	C	C	30468996	T	C	30468996	3	2	79	1	0	0	0	0	1	0	0	0	10540	1551	54	5	86	5	NOD1	7	30468996	Missense_Mutation	SNP	T	TCGA-EA-A411-01A-11D-A243-09		30468996	128669667	20	12255										
ASL	435	genome.wustl.edu	37	chr7	65546867	65546867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ttcaacgcgtccattgcctaCgaccggcacctttgggaggt	11	13	1	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr7:65546867C>T	ENST00000304874.9	+	3	192	c.90C>T	c.(88-90)taC>taT	p.Y30Y	ASL_ENST00000395331.3_Silent_p.Y30Y|ASL_ENST00000395332.3_Silent_p.Y30Y|ASL_ENST00000380839.4_Silent_p.Y30Y	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	30					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCATTGCCTACGACCGGCACC	0.587																																																	0													71	57	62					7																	65546867		2203	4300	6503	SO:0001819	synonymous_variant	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.90C>T	7.37:g.65546867C>T			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.Y30	ENST00000304874.9	37	c.90	CCDS5531.1	7																																																																																			ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase		0.587	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	C	NM_000048		65546867	1	no_errors	ENST00000304874	ensembl	human	known	70_37	silent	SNP	0.782	T	T	65546867	C	T	65546867	2	4	79	1	0	0	0	0	0	0	0	1	1045	547	19	2		2	ASL	7	65546867	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09	35077871	65546867	93591796	21	12256										
DPY19L4	286148	genome.wustl.edu	37	chr8	95789995	95789995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	caagtggcttcgattaagaaCtgtacacccaatattgttgg	9	8	0	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr8:95789995C>A	ENST00000414645.2	+	14	1655	c.1556C>A	c.(1555-1557)aCt>aAt	p.T519N		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	519						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CGATTAAGAACTGTACACCCA	0.333																																																	0													187	163	171					8																	95789995		2203	4300	6503	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1556C>A	8.37:g.95789995C>A	ENSP00000389630:p.Thr519Asn		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	pfam_Dpy-19	p.T519N	ENST00000414645.2	37	c.1556	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722233	0.30503	.	.	ENSG00000156162	ENST00000414645	T	0.63913	-0.07	5.35	4.45	0.53987	.	0.238137	0.42548	D	0.000695	T	0.47764	0.1463	N	0.22421	0.69	0.30879	N	0.73166	B	0.33318	0.408	B	0.37144	0.242	T	0.51787	-0.8661	10	0.26408	T	0.33	-14.358	10.565	0.45167	0.0:0.7932:0.1346:0.0721	.	519	Q7Z388	D19L4_HUMAN	N	519	ENSP00000389630:T519N	ENSP00000389630:T519N	T	+	2	0	DPY19L4	95859171	1.000000	0.71417	0.968000	0.41197	0.986000	0.74619	5.475000	0.66787	1.347000	0.45714	0.467000	0.42956	ACT	DPY19L4	-	pfam_Dpy-19		0.333	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	C	NM_181787		95789995	1	no_errors	ENST00000414645	ensembl	human	known	70_37	missense	SNP	0.997	A	A	95789995	C	A	95789995	3	1	79	1	0	0	0	0	1	0	0	0	4753	565	20	4	1610	4	DPY19L4	8	95789995	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09		95789995	50574027	22	12257										
VPS13B	157680	genome.wustl.edu	37	chr8	100844677	100844677	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	atgaaatccagctcccttccTtgctgggacttgatgcctga	9	12	0	3			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr8:100844677T>G	ENST00000358544.2	+	52	9597	c.9486T>G	c.(9484-9486)ccT>ccG	p.P3162P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3137P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3162					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTCCCTTCCTTGCTGGGACT	0.463																																					Colon(161;2205 2542 7338 31318)												0													71	47	55					8																	100844677		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9486T>G	8.37:g.100844677T>G			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.P3162	ENST00000358544.2	37	c.9486	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.463	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	T	NM_184042		100844677	1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.998	G	G	100844677	T	G	100844677	2	3	79	1	0	0	0	0	0	0	0	1	17221	1596	56	5		5	VPS13B	8	100844677	Silent	SNP	T	TCGA-EA-A411-01A-11D-A243-09	5054682	100844677	45519345	23	12258										
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69416171	69416171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ggcttcagaggaagagcaacAaaggcatgaaagaagtgaaa	13	5	1	5			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr9:69416171A>G	ENST00000357336.3	+	12	1399	c.1118A>G	c.(1117-1119)cAa>cGa	p.Q373R		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	373										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GAAGAGCAACAAAGGCATGAA	0.328																																																	0													44	57	53					9																	69416171		999	2118	3117	SO:0001583	missense	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1118A>G	9.37:g.69416171A>G	ENSP00000349891:p.Gln373Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q373R	ENST00000357336.3	37	c.1118	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	A	3.836	-0.034852	0.07543	.	.	ENSG00000172014	ENST00000357336	T	0.35048	1.33	2.43	-0.752	0.11072	.	.	.	.	.	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	9	0.35671	T	0.21	.	2.7907	0.05387	0.4802:0.2628:0.0:0.257	.	373	Q4UJ75	A20A4_HUMAN	R	373	ENSP00000349891:Q373R	ENSP00000349891:Q373R	Q	+	2	0	ANKRD20A4	68705991	0.143000	0.22626	0.000000	0.03702	0.004000	0.04260	1.005000	0.29834	-0.287000	0.09064	0.155000	0.16302	CAA	ANKRD20A4	-	NULL		0.328	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	A	NM_001098805		69416171	1	no_errors	ENST00000357336	ensembl	human	known	70_37	missense	SNP	0.001	G	G	69416171	A	G	69416171	3	3	79	1	0	0	0	0	1	0	0	0	650	130	5	5	1164	5	ANKRD20A4	9	69416171	Missense_Mutation	SNP	A	TCGA-EA-A411-01A-11D-A243-09		69416171	71797260	24	12259										
BICD2	23299	genome.wustl.edu	37	chr9	95477597	95477597	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gccacgccgggtctgctcatGgtccagctcgagcagctcca	12	16	2	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr9:95477597G>C	ENST00000375512.3	-	7	2474	c.2407C>G	c.(2407-2409)Cat>Gat	p.H803D	BICD2_ENST00000356884.6_Missense_Mutation_p.H803D	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	803	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCTGCTCATGGTCCAGCTCG	0.662																																																	0													35	32	33					9																	95477597		2203	4298	6501	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2407C>G	9.37:g.95477597G>C	ENSP00000364662:p.His803Asp		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.H803D	ENST00000375512.3	37	c.2407	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956847	0.73902	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.44881	0.91;0.94	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.65975	2.015	0.80722	D	1	P;P	0.48294	0.908;0.666	B;B	0.41412	0.356;0.194	T	0.41288	-0.9517	10	0.32370	T	0.25	-29.8118	16.9106	0.86139	0.0:0.0:1.0:0.0	.	803;803	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	D	803	ENSP00000349351:H803D;ENSP00000364662:H803D	ENSP00000349351:H803D	H	-	1	0	BICD2	94517418	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.734000	0.98822	2.674000	0.91012	0.655000	0.94253	CAT	BICD2	-	NULL		0.662	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	G	NM_015250		95477597	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95477597	G	C	95477597	3	2	79	1	0	0	0	0	1	0	0	0	1430	1348	47	4	174	4	BICD2	9	95477597	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	26061426	95477597	45735834	25	12260										
LRSAM1	90678	genome.wustl.edu	37	chr9	130257661	130257661	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tggctgattcagtatcaacgGcttttgaaccagaagccctt	9	10	2	3			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr9:130257661G>T	ENST00000323301.4	+	21	2266	c.1662G>T	c.(1660-1662)cgG>cgT	p.R554R	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.R554R|LRSAM1_ENST00000373324.4_Silent_p.R527R|LRSAM1_ENST00000300417.6_Silent_p.R554R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	554					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGTATCAACGGCTTTTGAACC	0.532																																																	0													76	72	73					9																	130257661		2203	4300	6503	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1662G>T	9.37:g.130257661G>T			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.R554	ENST00000323301.4	37	c.1662	CCDS6873.1	9																																																																																			LRSAM1	-	NULL		0.532	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130257661	1	no_errors	ENST00000300417	ensembl	human	known	70_37	silent	SNP	0.990	T	T	130257661	G	T	130257661	2	4	79	1	0	0	0	0	0	0	0	1	9066	1190	42	4		4	LRSAM1	9	130257661	Silent	SNP	G	TCGA-EA-A411-01A-11D-A243-09	34780064	130257661	10955770	26	12261										
UCN3	114131	genome.wustl.edu	37	chr10	5415995	5415995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gtgtcccaagcacagcccagGggaaagccacgccaggacac	12	15	0	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr10:5415995G>T	ENST00000380433.3	+	2	540	c.312G>T	c.(310-312)agG>agT	p.R104S		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CACAGCCCAGGGGAAAGCCAC	0.602																																																	0													68	67	68					10																	5415995		2203	4300	6503	SO:0001583	missense	114131			AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.312G>T	10.37:g.5415995G>T	ENSP00000369798:p.Arg104Ser		Q496H2|Q5SR91	Missense_Mutation	SNP	pfam_Urocortin_II/III	p.R104S	ENST00000380433.3	37	c.312	CCDS7065.1	10	.	.	.	.	.	.	.	.	.	.	G	7.953	0.745384	0.15710	.	.	ENSG00000178473	ENST00000380433	T	0.35789	1.29	5.59	-0.597	0.11653	.	0.349623	0.29737	N	0.011324	T	0.24044	0.0582	L	0.38175	1.15	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.15178	-1.0446	10	0.72032	D	0.01	-4.4205	10.4976	0.44788	0.3861:0.0:0.6139:0.0	.	104	Q969E3	UCN3_HUMAN	S	104	ENSP00000369798:R104S	ENSP00000369798:R104S	R	+	3	2	UCN3	5405995	0.284000	0.24287	0.001000	0.08648	0.014000	0.08584	0.574000	0.23714	-0.112000	0.11979	-0.339000	0.08088	AGG	UCN3	-	NULL		0.602	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCN3	HGNC	protein_coding	OTTHUMT00000046547.1	G	NM_053049		5415995	1	no_errors	ENST00000380433	ensembl	human	known	70_37	missense	SNP	0.004	T	T	5415995	G	T	5415995	3	4	79	1	0	0	0	0	1	0	0	0	16960	1223	43	4	314	4	UCN3	10	5415995	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09		5415995	130118752	27	12262										
NRP1	8829	genome.wustl.edu	37	chr10	33502528	33502528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gaagtgcccagccagagcgaCtggttaccaggcggatgttt	14	10	0	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr10:33502528C>G	ENST00000265371.4	-	10	1925	c.1400G>C	c.(1399-1401)aGt>aCt	p.S467T	NRP1_ENST00000374816.3_Missense_Mutation_p.S467T|NRP1_ENST00000395995.1_Missense_Mutation_p.S467T|NRP1_ENST00000374822.4_Missense_Mutation_p.S467T|NRP1_ENST00000374867.2_Missense_Mutation_p.S467T|NRP1_ENST00000374823.5_Missense_Mutation_p.S467T|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374875.1_Missense_Mutation_p.S286T|NRP1_ENST00000374821.5_Missense_Mutation_p.S467T|NRP1_ENST00000432372.2_Missense_Mutation_p.S467T			O14786	NRP1_HUMAN	neuropilin 1	467	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCCAGAGCGACTGGTTACCAG	0.517																																					Melanoma(104;886 1489 44640 45944 51153)												0													161	146	151					10																	33502528		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1400G>C	10.37:g.33502528C>G	ENSP00000265371:p.Ser467Thr		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.S467T	ENST00000265371.4	37	c.1400	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.070950	0.93950	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.64	5.64	0.86602	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	L	0.49513	1.565	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.42757	0.762;0.733;0.736;0.457;0.627;0.789;0.6;0.762;0.597	P;P;P;P;B;P;P;P;B	0.51999	0.65;0.597;0.687;0.543;0.233;0.463;0.597;0.65;0.319	D	0.98934	1.0788	10	0.66056	D	0.02	-23.052	19.7049	0.96069	0.0:1.0:0.0:0.0	.	467;467;467;467;467;467;467;286;467	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	T	467;286;467;467;467;467;467;467;140	ENSP00000265371:S467T;ENSP00000364009:S286T;ENSP00000364001:S467T;ENSP00000379317:S467T;ENSP00000363955:S467T;ENSP00000363954:S467T;ENSP00000363956:S467T;ENSP00000363949:S467T;ENSP00000408911:S140T	ENSP00000265371:S467T	S	-	2	0	NRP1	33542534	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.995000	0.70631	2.655000	0.90218	0.591000	0.81541	AGT	NRP1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pirsf_Neuropilin,pfscan_Coagulation_fac_5/8-C_type_dom		0.517	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	C			33502528	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33502528	C	G	33502528	3	3	79	1	0	0	0	0	1	0	0	0	10684	565	20	4	1418	4	NRP1	10	33502528	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	28086533	33502528	102032219	28	12263										
JAKMIP3	282973	genome.wustl.edu	37	chr10	133950592	133950592	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	atcaaagtcaggatgagagaGaagtcgatttcttgaagctt	11	5	3	3			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr10:133950592G>C	ENST00000298622.4	+	6	1324	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	396						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGATGAGAGAGAAGTCGATTT	0.507																																																	0													90	95	93					10																	133950592		1951	4146	6097	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1186G>C	10.37:g.133950592G>C	ENSP00000298622:p.Glu396Gln		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E396Q	ENST00000298622.4	37	c.1186	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972400	0.74246	.	.	ENSG00000188385	ENST00000298622	T	0.35048	1.33	4.72	4.72	0.59763	.	0.057434	0.64402	D	0.000002	T	0.60881	0.2303	M	0.73598	2.24	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.61987	-0.6949	10	0.38643	T	0.18	-11.3177	17.6592	0.88187	0.0:0.0:1.0:0.0	.	396	Q5VZ66	JKIP3_HUMAN	Q	396	ENSP00000298622:E396Q	ENSP00000298622:E396Q	E	+	1	0	JAKMIP3	133800582	1.000000	0.71417	0.069000	0.20011	0.687000	0.40016	9.206000	0.95056	2.140000	0.66376	0.586000	0.80456	GAA	JAKMIP3	-	NULL		0.507	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133950592	1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133950592	G	C	133950592	3	2	79	1	0	0	0	0	1	0	0	0	7962	943	33	1	1208	1	JAKMIP3	10	133950592	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	100448064	133950592	1584155	29	12264										
FOLH1	2346	genome.wustl.edu	37	chr11	49207317	49207317	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tccaggaagattccaaccatCtggataggacttcaccccag	8	13	2	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr11:49207317C>T	ENST00000256999.2	-	6	990	c.730G>A	c.(730-732)Gat>Aat	p.D244N	FOLH1_ENST00000340334.7_Missense_Mutation_p.D229N|FOLH1_ENST00000533034.1_Missense_Mutation_p.D229N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D244N|FOLH1_ENST00000343844.4_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	244					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TTCCAACCATCTGGATAGGAC	0.507																																																	0													50	63	59					11																	49207317		2201	4297	6498	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.730G>A	11.37:g.49207317C>T	ENSP00000256999:p.Asp244Asn		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.D244N	ENST00000256999.2	37	c.730	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376393	0.11466	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	3.01	1.08	0.20341	Protease-associated domain, PA (1);	0.516425	0.17169	N	0.184366	T	0.22126	0.0533	N	0.16903	0.455	0.42839	D	0.994046	B;B;B;B	0.16166	0.016;0.002;0.016;0.0	B;B;B;B	0.17433	0.017;0.003;0.018;0.002	T	0.05500	-1.0881	10	0.22109	T	0.4	.	6.7483	0.23474	0.0:0.7378:0.0:0.2622	.	229;229;244;244	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	244;244;229;229;244	ENSP00000256999:D244N;ENSP00000349129:D244N;ENSP00000344131:D229N;ENSP00000431463:D229N	ENSP00000256999:D244N	D	-	1	0	FOLH1	49163893	0.119000	0.22226	0.997000	0.53966	0.300000	0.27592	-0.298000	0.08265	0.628000	0.30357	-0.498000	0.04607	GAT	FOLH1	-	pfam_Protease-assoc_domain		0.507	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	C	NM_004476		49207317	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	missense	SNP	0.995	T	T	49207317	C	T	49207317	3	4	79	1	0	0	0	0	1	0	0	0	5997	913	32	1	1578	1	FOLH1	11	49207317	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09		49207317	85799199	30	12265										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120295078	120295078	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ttcttacaggtgaatggaacTctggtgactcattcaaatca	8	8	5	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr11:120295078T>G	ENST00000397843.2	+	7	526	c.360T>G	c.(358-360)acT>acG	p.T120T	ARHGEF12_ENST00000356641.3_Silent_p.T101T|ARHGEF12_ENST00000532993.1_Silent_p.T17T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	120	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGAATGGAACTCTGGTGACTC	0.323			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													163	153	156					11																	120295078		1855	4101	5956	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.360T>G	11.37:g.120295078T>G			O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T101	ENST00000397843.2	37	c.303	CCDS41727.1	11																																																																																			ARHGEF12	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.323	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	T	NM_015313		120295078	1	no_errors	ENST00000356641	ensembl	human	known	70_37	silent	SNP	1.000	G	G	120295078	T	G	120295078	2	3	79	1	0	0	0	0	0	0	0	1	897	1538	54	5		5	ARHGEF12	11	120295078	Silent	SNP	T	TCGA-EA-A411-01A-11D-A243-09	71087761	120295078	14711438	31	12266										
NDUFA9	4704	genome.wustl.edu	37	chr12	4764034	4764034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ataccctatcggtgtgataaAtatgacatcatgcaccttcg	7	10	1	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:4764034A>C	ENST00000266544.5	+	3	284	c.264A>C	c.(262-264)aaA>aaC	p.K88N	NDUFA9_ENST00000542369.1_3'UTR|RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	88					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GGTGTGATAAATATGACATCA	0.388																																					Colon(75;996 1244 23946 25294 29232)												0													113	104	107					12																	4764034		2203	4300	6503	SO:0001583	missense	4704			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.264A>C	12.37:g.4764034A>C	ENSP00000266544:p.Lys88Asn		Q14076|Q2NKX0	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA	p.K88N	ENST00000266544.5	37	c.264	CCDS8532.1	12	.	.	.	.	.	.	.	.	.	.	A	6.585	0.476208	0.12521	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	D;D	0.93307	-3.2;-1.86	5.59	-11.2	0.00127	NAD(P)-binding domain (1);NmrA-like (1);	0.791526	0.12705	N	0.446056	T	0.81370	0.4808	N	0.19112	0.55	0.51482	D	0.999922	B;B	0.14438	0.01;0.01	B;B	0.23852	0.049;0.049	T	0.57242	-0.7845	10	0.22109	T	0.4	-4.2042	6.9994	0.24801	0.0986:0.1623:0.5003:0.2388	.	88;88	A8K4V2;Q16795	.;NDUA9_HUMAN	N	88;110	ENSP00000266544:K88N;ENSP00000440305:K110N	ENSP00000266544:K88N	K	+	3	2	NDUFA9	4634295	0.001000	0.12720	0.000000	0.03702	0.151000	0.21798	-0.175000	0.09825	-2.769000	0.00366	0.533000	0.62120	AAA	NDUFA9	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA		0.388	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	HGNC	protein_coding	OTTHUMT00000398900.2	A	NM_005002		4764034	1	no_errors	ENST00000266544	ensembl	human	known	70_37	missense	SNP	0.000	C	C	4764034	A	C	4764034	3	2	79	1	0	0	0	0	1	0	0	0	10296	98	4	5	274	5	NDUFA9	12	4764034	Missense_Mutation	SNP	A	TCGA-EA-A411-01A-11D-A243-09		4764034	129087861	32	12267										
PEX5	5830	genome.wustl.edu	37	chr12	7360372	7360372	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tgctgctttttgaggcagctGtgcagcaggatcctaagcac	12	10	0	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:7360372G>T	ENST00000455147.2	+	12	1664	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	PEX5_ENST00000434354.2_Missense_Mutation_p.V377L|PEX5_ENST00000266564.3_Missense_Mutation_p.V354L|PEX5_ENST00000412720.2_Missense_Mutation_p.V383L|PEX5_ENST00000420616.2_Missense_Mutation_p.V362L|PEX5_ENST00000266563.5_Missense_Mutation_p.V325L	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	362					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGAGGCAGCTGTGCAGCAGGA	0.547																																																	0													124	120	122					12																	7360372		2203	4300	6503	SO:0001583	missense	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1084G>T	12.37:g.7360372G>T	ENSP00000400647:p.Val362Leu		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V377L	ENST00000455147.2	37	c.1129	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805775	0.70682	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.119985	0.56097	D	0.000030	T	0.81800	0.4899	L	0.44542	1.39	0.80722	D	1	P;P;B;B;B	0.52842	0.557;0.956;0.375;0.325;0.299	B;P;B;B;B	0.50314	0.124;0.637;0.308;0.205;0.205	D	0.84230	0.0466	10	0.72032	D	0.01	.	18.3744	0.90431	0.0:0.0:1.0:0.0	.	383;377;362;354;325	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	L	362;325;377;362;383;332;354	ENSP00000400647:V362L;ENSP00000266563:V325L;ENSP00000407401:V377L;ENSP00000410159:V362L;ENSP00000391601:V383L;ENSP00000379877:V332L;ENSP00000266564:V354L	ENSP00000266563:V325L	V	+	1	0	PEX5	7251639	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.752000	0.85141	2.572000	0.86782	0.491000	0.48974	GTG	PEX5	-	pfscan_TPR-contain_dom		0.547	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	G	NM_000319		7360372	1	no_errors	ENST00000434354	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7360372	G	T	7360372	3	4	79	1	0	0	0	0	1	0	0	0	11772	1377	48	4	1167	4	PEX5	12	7360372	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	2596338	7360372	126491523	33	12268										
ERBB3	2065	genome.wustl.edu	37	chr12	56482537	56482537	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ctcttacatttgcagcctgtGagggaacaggctctgggagc	13	10	2	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:56482537G>C	ENST00000267101.3	+	9	1434	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.E273Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	332					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.E332K(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCAGCCTGTGAGGGAACAGG	0.522																																																	2	Substitution - Missense(2)	urinary_tract(2)											97	96	96					12																	56482537		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.994G>C	12.37:g.56482537G>C	ENSP00000267101:p.Glu332Gln		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E332Q	ENST00000267101.3	37	c.994	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447583	0.43429	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	D;D	0.84442	-1.85;-1.85	5.52	5.52	0.82312	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.90249	0.6951	L	0.50333	1.59	0.80722	D	1	D;B	0.89917	1.0;0.059	D;B	0.77004	0.989;0.053	D	0.88700	0.3215	10	0.40728	T	0.16	.	18.37	0.90403	0.0:0.0:1.0:0.0	.	12;332	O75810;P21860	.;ERBB3_HUMAN	Q	332;273	ENSP00000267101:E332Q;ENSP00000408340:E273Q	ENSP00000267101:E332Q	E	+	1	0	ERBB3	54768804	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	4.794000	0.62482	2.873000	0.98535	0.563000	0.77884	GAG	ERBB3	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.522	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56482537	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56482537	G	C	56482537	3	2	79	1	0	0	0	0	1	0	0	0	5220	1291	45	1	1159	1	ERBB3	12	56482537	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	49122165	56482537	77369358	34	12269										
SRGAP1	57522	genome.wustl.edu	37	chr12	64456756	64456756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ctaagaacatatctgtctgcGgagtacaaccttgaaacctc	7	11	2	2	rs137909926	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:64456756G>A	ENST00000355086.3	+	7	1385	c.861G>A	c.(859-861)gcG>gcA	p.A287A	SRGAP1_ENST00000357825.3_Silent_p.A287A|SRGAP1_ENST00000543397.1_Silent_p.A247A|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	287	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.A287A(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCTGTCTGCGGAGTACAACC	0.413													G|||	2	0.000399361	8e-04	0	5008	,	,		18262	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	endometrium(1)						G		2,4404	4.2+/-10.8	0,2,2201	93	85	88		861	-0.6	1	12	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	SRGAP1	NM_020762.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		287/1086	64456756	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.861G>A	12.37:g.64456756G>A			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A287	ENST00000355086.3	37	c.861	CCDS8967.1	12																																																																																			SRGAP1	-	NULL		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64456756	1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64456756	G	A	64456756	2	1	79	1	0	0	0	0	0	0	0	1	15175	1103	39	2		2	SRGAP1	12	64456756	Silent	SNP	G	TCGA-EA-A411-01A-11D-A243-09	7974219	64456756	69395139	35	12270										
KCNH5	27133	genome.wustl.edu	37	chr14	63246573	63246573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ggtcacagtacgtcagtgccCggacgttcgcacatgcatgg	13	12	2	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:63246573C>T	ENST00000322893.7	-	10	2160	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	631					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGTCAGTGCCCGGACGTTCGC	0.458																																																	0													113	101	105					14																	63246573		2203	4300	6503	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1892G>A	14.37:g.63246573C>T	ENSP00000321427:p.Arg631Gln		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.R631Q	ENST00000322893.7	37	c.1892	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149956	0.78001	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.96992	-4.2;-4.2	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	D	0.98974	1.0802	10	0.87932	D	0	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	573;631	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	Q	631;573	ENSP00000321427:R631Q;ENSP00000378419:R573Q	ENSP00000321427:R631Q	R	-	2	0	KCNH5	62316326	1.000000	0.71417	0.985000	0.45067	0.023000	0.10783	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	CGG	KCNH5	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom		0.458	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	C	NM_139318		63246573	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63246573	C	T	63246573	3	4	79	1	0	0	0	0	1	0	0	0	8055	652	23	2	1116	2	KCNH5	14	63246573	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09		63246573	44102967	36	12271										
C14orf145	145508	genome.wustl.edu	37	chr14	81259223	81259223	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ttgagctttcagtttcaggtCttccctcctcttctccgcct	6	15	5	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:81259223C>T	ENST00000555265.1	-	14	1816	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	CEP128_ENST00000281129.3_Missense_Mutation_p.D481N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	481						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTTTCAGGTCTTCCCTCCTC	0.502																																																	0													195	174	181					14																	81259223		2203	4300	6503	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1441G>A	14.37:g.81259223C>T	ENSP00000451162:p.Asp481Asn		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.D481N	ENST00000555265.1	37	c.1441	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184414	0.57800	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.34667	1.35;1.35	5.47	3.6	0.41247	.	0.267699	0.35040	N	0.003499	T	0.23133	0.0559	N	0.22421	0.69	0.80722	D	1	P	0.35272	0.493	B	0.32465	0.146	T	0.02603	-1.1135	10	0.25751	T	0.34	.	12.3911	0.55358	0.1343:0.7368:0.1289:0.0	.	481	Q6ZU80	CE128_HUMAN	N	481	ENSP00000281129:D481N;ENSP00000451162:D481N	ENSP00000281129:D481N	D	-	1	0	CEP128	80328976	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.366000	0.52343	0.642000	0.30620	0.650000	0.86243	GAC	CEP128	-	NULL		0.502	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	C	NM_152446		81259223	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81259223	C	T	81259223	3	4	79	1	0	0	0	0	1	0	0	0	1753	913	32	1	1891	1	C14orf145	14	81259223	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	18012650	81259223	26090317	37	12272										
FLRT2	23768	genome.wustl.edu	37	chr14	86087985	86087985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gccctagtgtgtgccgctgcGacaggaactttgtctactgt	12	11	1	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:86087985G>A	ENST00000330753.4	+	2	894	c.127G>A	c.(127-129)Gac>Aac	p.D43N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	43	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.D43N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGCCGCTGCGACAGGAACTT	0.522																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											124	116	118					14																	86087985		2203	4300	6503	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.127G>A	14.37:g.86087985G>A	ENSP00000332879:p.Asp43Asn		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.D43N	ENST00000330753.4	37	c.127	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.224776	0.95173	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.96104	-3.91;-3.91	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.047964	0.85682	D	0.000000	D	0.90270	0.6957	N	0.17631	0.505	0.80722	D	1	P	0.46457	0.878	B	0.34038	0.174	D	0.90594	0.4539	10	0.42905	T	0.14	-31.8616	19.9036	0.96999	0.0:0.0:1.0:0.0	.	43	O43155	FLRT2_HUMAN	N	43	ENSP00000332879:D43N;ENSP00000451050:D43N	ENSP00000332879:D43N	D	+	1	0	FLRT2	85157738	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GAC	FLRT2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	G			86087985	1	no_errors	ENST00000330753	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86087985	G	A	86087985	3	1	79	1	0	0	0	0	1	0	0	0	5957	1058	37	1	129	1	FLRT2	14	86087985	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	4828762	86087985	21261555	38	12273										
CHRFAM7A	89832	genome.wustl.edu	37	chr15	30654961	30654961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gggcgcaccttgtcctccccGggcctcttcattcgcaggaa	11	16	2	0	rs201471858	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:30654961G>A	ENST00000299847.2	-	10	1227	c.774C>T	c.(772-774)ccC>ccT	p.P258P	CHRFAM7A_ENST00000401522.3_Silent_p.P167P|CHRFAM7A_ENST00000397827.3_Silent_p.P167P	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	258						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGTCCTCCCCGGGCCTCTTCA	0.667																																																	0													3	4	3					15																	30654961		1163	2339	3502	SO:0001819	synonymous_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.774C>T	15.37:g.30654961G>A			A8KAB9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.P258	ENST00000299847.2	37	c.774	CCDS32184.1	15																																																																																			CHRFAM7A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.667	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	G	NM_148911		30654961	-1	no_errors	ENST00000299847	ensembl	human	known	70_37	silent	SNP	0.202	A	A	30654961	G	A	30654961	2	1	79	1	0	0	0	0	0	0	0	1	3380	1103	39	2		2	CHRFAM7A	15	30654961	Silent	SNP	G	TCGA-EA-A411-01A-11D-A243-09		30654961	71876431	39	12274										
C15orf29	79768	genome.wustl.edu	37	chr15	34438961	34438961	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tatctttaaaggtatactcaCccatcatttataatttctgt	3	8	4	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:34438961C>A	ENST00000256544.3	-	8	931		c.e8+1			NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1							nucleolus (GO:0005730)											GGTATACTCACCCATCATTTA	0.328																																																	0													81	82	82					15																	34438961		2201	4296	6497	SO:0001630	splice_region_variant	79768			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 29"	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.788+1G>T	15.37:g.34438961C>A			A8KAF6|Q2TAC0|Q9H670	Splice_Site	SNP	-	e7+1	ENST00000256544.3	37	c.788+1	CCDS10034.1	15	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166897	0.57476	.	.	ENSG00000134152	ENST00000256544	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0124	0.86410	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf29	32226253	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.801000	0.69115	2.669000	0.90835	0.411000	0.27672	.	KATNBL1	-	-		0.328	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNBL1	HGNC	protein_coding	OTTHUMT00000251520.1	C	NM_024713	Intron	34438961	-1	no_errors	ENST00000256544	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	34438961	C	A	34438961	5	1	79	1	0	0	0	0	0	0	1	0	1793	521	18	4	137	4	C15orf29	15	34438961	Splice_Site	SNP	C	TCGA-EA-A411-01A-11D-A243-09	3784000	34438961	68092431	40	12275										
TP53BP1	7158	genome.wustl.edu	37	chr15	43701248	43701248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	acaggaagtacttccgggttCgacaatgctgatccgcaatt	10	10	0	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:43701248C>T	ENST00000263801.3	-	26	5684	c.5432G>A	c.(5431-5433)cGa>cAa	p.R1811Q	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1816Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1814Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1766Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1811	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1811Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCCGGGTTCGACAATGCTG	0.498								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	large_intestine(1)											147	111	123					15																	43701248		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5432G>A	15.37:g.43701248C>T	ENSP00000263801:p.Arg1811Gln		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.R1816Q	ENST00000263801.3	37	c.5447	CCDS10096.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.633542|5.633542	0.96682|0.96682	.|.	.|.	ENSG00000067369|ENSG00000067369	ENST00000434595|ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.|D;D;D;D	.|0.91351	.|-2.83;-2.83;-2.83;-2.83	5.35|5.35	5.35|5.35	0.76521|0.76521	.|BRCT (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96259|0.96259	0.8780|0.8780	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.85130	.|0.994;0.949;0.997	D|D	0.96645|0.96645	0.9477|0.9477	5|10	.|0.87932	.|D	.|0	-6.8155|-6.8155	19.425|19.425	0.94737|0.94737	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1811;1816;1814	.|Q12888;Q12888-2;F8VY86	.|TP53B_HUMAN;.;.	K|Q	136|1811;1816;1766;1814	.|ENSP00000263801:R1811Q;ENSP00000371475:R1816Q;ENSP00000371470:R1766Q;ENSP00000393497:R1814Q	.|ENSP00000263801:R1811Q	E|R	-|-	1|2	0|0	TP53BP1|TP53BP1	41488540|41488540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.515000|5.515000	0.67049|0.67049	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GAA|CGA	TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43701248	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43701248	C	T	43701248	3	4	79	1	0	0	0	0	1	0	0	0	16414	884	31	1	498	1	TP53BP1	15	43701248	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	9262287	43701248	58830144	41	12276										
HDC	3067	genome.wustl.edu	37	chr15	50535348	50535348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	agatggtattacctttagacGaaaaaccaccaggccaaggt	9	9	0	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:50535348G>A	ENST00000267845.3	-	11	1636	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	HDC_ENST00000543581.1_Missense_Mutation_p.R379C|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACCTTTAGACGAAAAACCACC	0.478																																					GBM(95;1627 1936 6910 9570)												0													78	75	76					15																	50535348		2196	4295	6491	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1234C>T	15.37:g.50535348G>A	ENSP00000267845:p.Arg412Cys			Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.R412C	ENST00000267845.3	37	c.1234	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366737	0.82463	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.46819	0.86;0.86	5.82	5.82	0.92795	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.306737	0.41001	D	0.000965	T	0.71660	0.3366	M	0.84082	2.675	0.80722	D	1	P;D	0.65815	0.895;0.995	P;D	0.63192	0.562;0.912	T	0.74825	-0.3533	10	0.87932	D	0	-11.7372	20.0992	0.97865	0.0:0.0:1.0:0.0	.	379;412	B7ZM01;P19113	.;DCHS_HUMAN	C	412;379	ENSP00000267845:R412C;ENSP00000440252:R379C	ENSP00000267845:R412C	R	-	1	0	HDC	48322640	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.729000	0.62008	2.762000	0.94881	0.467000	0.42956	CGT	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC		0.478	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50535348	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50535348	G	A	50535348	3	1	79	1	0	0	0	0	1	0	0	0	7035	1058	37	1	762	1	HDC	15	50535348	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	6834100	50535348	51996044	42	12277										
NARFL	64428	genome.wustl.edu	37	chr16	789659	789659	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	ttacttggttaatttggaagTagctcccgtcatcttcaatg	8	8	3	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr16:789659T>A	ENST00000251588.2	-	2	162	c.146A>T	c.(145-147)tAc>tTc	p.Y49F	NARFL_ENST00000301694.5_Missense_Mutation_p.Y49F|NARFL_ENST00000568545.1_5'Flank|NARFL_ENST00000540986.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	49					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AATTTGGAAGTAGCTCCCGTC	0.542																																																	0													218	178	191					16																	789659		2200	4300	6500	SO:0001583	missense	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.146A>T	16.37:g.789659T>A	ENSP00000251588:p.Tyr49Phe		A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.Y49F	ENST00000251588.2	37	c.146	CCDS10425.1	16	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346436	0.61073	.	.	ENSG00000103245	ENST00000251588;ENST00000301694	T;T	0.31247	1.5;1.5	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.70903	2.155	0.80722	D	1	D;D;P	0.59357	0.985;0.985;0.723	P;P;B	0.62813	0.907;0.907;0.274	T	0.43686	-0.9376	10	0.17369	T	0.5	.	13.3953	0.60849	0.0:0.0:0.0:1.0	.	49;49;49	B4DT78;B4DEE7;Q9H6Q4	.;.;NARFL_HUMAN	F	49	ENSP00000251588:Y49F;ENSP00000301694:Y49F	ENSP00000251588:Y49F	Y	-	2	0	NARFL	729660	1.000000	0.71417	0.996000	0.52242	0.144000	0.21451	7.462000	0.80851	1.788000	0.52465	0.477000	0.44152	TAC	NARFL	-	NULL		0.542	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	T	NM_022493		789659	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	789659	T	A	789659	3	1	79	1	0	0	0	0	1	0	0	0	10191	1638	57	5	1324	5	NARFL	16	789659	Missense_Mutation	SNP	T	TCGA-EA-A411-01A-11D-A243-09		789659	89565094	43	12278										
SLC5A2	6524	genome.wustl.edu	37	chr16	31500316	31500316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tctctagctacctggcaccgCccgtgtccgccgtcttcgtg	10	17	2	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr16:31500316C>T	ENST00000330498.3	+	11	1415	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	466					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCTGGCACCGCCCGTGTCCGC	0.662																																																	0													39	37	38					16																	31500316		2197	4299	6496	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1396C>T	16.37:g.31500316C>T	ENSP00000327943:p.Pro466Ser		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P466S	ENST00000330498.3	37	c.1396	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651353	0.88056	.	.	ENSG00000140675	ENST00000330498	D	0.88741	-2.42	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93643	0.6966	10	0.54805	T	0.06	.	15.5975	0.76599	0.0:1.0:0.0:0.0	.	466	P31639	SC5A2_HUMAN	S	466	ENSP00000327943:P466S	ENSP00000327943:P466S	P	+	1	0	SLC5A2	31407817	1.000000	0.71417	0.612000	0.29024	0.599000	0.36880	7.570000	0.82390	2.549000	0.85964	0.561000	0.74099	CCC	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31500316	1	no_errors	ENST00000330498	ensembl	human	known	70_37	missense	SNP	0.996	T	T	31500316	C	T	31500316	3	4	79	1	0	0	0	0	1	0	0	0	14695	739	26	4	1438	4	SLC5A2	16	31500316	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	30710657	31500316	58854437	44	12279										
ATP6V0D1	9114	genome.wustl.edu	37	chr16	67487585	67487585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	cctcgttggccaggaagttaCcataatcagtgctctgcaga	10	11	2	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr16:67487585C>T	ENST00000290949.3	-	2	314	c.164G>A	c.(163-165)gGt>gAt	p.G55D	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G55D|ATP6V0D1_ENST00000602876.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	55					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CAGGAAGTTACCATAATCAGT	0.557																																																	0													142	117	126					16																	67487585		2198	4300	6498	SO:0001583	missense	9114			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.164G>A	16.37:g.67487585C>T	ENSP00000290949:p.Gly55Asp		P12953|Q02547	Missense_Mutation	SNP	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.G55D	ENST00000290949.3	37	c.164	CCDS10838.1	16	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692992	0.68271	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.35048	1.33;1.33	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.72805	-0.4182	10	0.56958	D	0.05	-24.9685	17.8611	0.88781	0.0:1.0:0.0:0.0	.	55;55	F5GYQ1;P61421	.;VA0D1_HUMAN	D	55	ENSP00000290949:G55D;ENSP00000441282:G55D	ENSP00000290949:G55D	G	-	2	0	ATP6V0D1	66045086	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	7.666000	0.83877	2.555000	0.86185	0.563000	0.77884	GGT	ATP6V0D1	-	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu		0.557	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D1	HGNC	protein_coding	OTTHUMT00000268835.1	C	NM_004691		67487585	-1	no_errors	ENST00000290949	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67487585	C	T	67487585	3	4	79	1	0	0	0	0	1	0	0	0	1174	507	18	4	919	4	ATP6V0D1	16	67487585	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	35987269	67487585	22867168	45	12280										
WRAP53	55135	genome.wustl.edu	37	chr17	7604112	7604112	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	atctatgattactgctggtaTtctctgatgtcctcagccca	7	11	3	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr17:7604112T>A	ENST00000316024.5	+	4	3044	c.696T>A	c.(694-696)taT>taA	p.Y232*	WRAP53_ENST00000457584.2_Nonsense_Mutation_p.Y232*|WRAP53_ENST00000534050.1_Nonsense_Mutation_p.Y199*|WRAP53_ENST00000396463.2_Nonsense_Mutation_p.Y232*|WRAP53_ENST00000431639.2_Nonsense_Mutation_p.Y232*			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	232					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACTGCTGGTATTCTCTGATGT	0.547																																																	0													231	181	198					17																	7604112		2203	4300	6503	SO:0001587	stop_gained	55135			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.696T>A	17.37:g.7604112T>A	ENSP00000324203:p.Tyr232*		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y232*	ENST00000316024.5	37	c.696	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	T	46	12.150362	0.99640	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	.	.	.	4.95	3.87	0.44632	.	0.075055	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9448	5.5902	0.17297	0.0:0.1979:0.0:0.8021	.	.	.	.	X	232;232;232;232;199	.	ENSP00000324203:Y232X	Y	+	3	2	WRAP53	7544837	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.404000	0.20999	1.871000	0.54225	0.368000	0.22195	TAT	WRAP53	-	superfamily_WD40_repeat_dom		0.547	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	HGNC	protein_coding	OTTHUMT00000259385.2	T	NM_018081		7604112	1	no_errors	ENST00000316024	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	7604112	T	A	7604112	4	1	79	1	0	0	0	0	0	1	0	0	17431	1500	52	5	710	5	WRAP53	17	7604112	Nonsense_Mutation	SNP	T	TCGA-EA-A411-01A-11D-A243-09		7604112	73591098	46	12281										
AFMID	125061	genome.wustl.edu	37	chr17	76203007	76203007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tccagattatcttgaaaacaAtcttccagtagttctgacga	6	9	3	3	rs575961186		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr17:76203007A>G	ENST00000327898.5	+	11	925	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000591952.1_Missense_Mutation_p.N57S|AFMID_ENST00000409257.5_Missense_Mutation_p.I301V					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTTGAAAACAATCTTCCAGTA	0.483																																																	0													149	145	146					17																	76203007		2203	4300	6503	SO:0001583	missense	125061			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.916A>G	17.37:g.76203007A>G	ENSP00000328938:p.Ile306Val			Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.I306V	ENST00000327898.5	37	c.916	CCDS45801.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.330|5.330	0.246265|0.246265	0.10130|0.10130	.|.	.|.	ENSG00000183077|ENSG00000183077	ENST00000409257;ENST00000327898|ENST00000392388	.|.	.|.	.|.	4.53|4.53	3.45|3.45	0.39498|0.39498	.|.	0.235852|.	0.42964|.	N|.	0.000627|.	T|T	0.46464|0.46464	0.1394|0.1394	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B|.	0.26483|.	0.093;0.15|.	B;B|.	0.20577|.	0.013;0.03|.	T|T	0.44787|0.44787	-0.9305|-0.9305	9|6	0.41790|0.87932	T|D	0.15|0	-28.5946|-28.5946	7.5376|7.5376	0.27719|0.27719	0.8996:0.0:0.1004:0.0|0.8996:0.0:0.1004:0.0	.|.	301;306|.	Q63HM1;Q63HM1-2|.	AFMID_HUMAN;.|.	V|S	301;306|57	.|.	ENSP00000328938:I306V|ENSP00000387090:N57S	I|N	+|+	1|2	0|0	AFMID|AFMID	73714602|73714602	0.818000|0.818000	0.29161|0.29161	0.794000|0.794000	0.32065|0.32065	0.044000|0.044000	0.14063|0.14063	1.337000|1.337000	0.33862|0.33862	0.765000|0.765000	0.33221|0.33221	0.491000|0.491000	0.48974|0.48974	ATC|AAT	AFMID	-	NULL		0.483	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	HGNC	protein_coding	OTTHUMT00000333203.1	A	XM_058889		76203007	1	no_errors	ENST00000327898	ensembl	human	known	70_37	missense	SNP	0.984	G	G	76203007	A	G	76203007	3	3	79	1	0	0	0	0	1	0	0	0	362	101	4	5	958	5	AFMID	17	76203007	Missense_Mutation	SNP	A	TCGA-EA-A411-01A-11D-A243-09	68598895	76203007	4992203	47	12282										
SMCHD1	23347	genome.wustl.edu	37	chr18	2728529	2728529	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	atggaacagctttcccatttCaggtggaagttttagatgaa	10	6	1	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr18:2728529C>T	ENST00000320876.6	+	23	3186	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q950*|SMCHD1_ENST00000609587.1_3'UTR	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	950					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTTCCCATTTCAGGTGGAAGT	0.338																																																	0													97	92	93					18																	2728529		1829	4082	5911	SO:0001587	stop_gained	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2848C>T	18.37:g.2728529C>T	ENSP00000326603:p.Gln950*		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.Q950*	ENST00000320876.6	37	c.2848	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	46	12.282903	0.99653	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.84	5.84	0.93424	.	0.213668	0.43110	D	0.000616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-7.0426	20.1535	0.98095	0.0:1.0:0.0:0.0	.	.	.	.	X	950	.	ENSP00000261598:Q950X	Q	+	1	0	SMCHD1	2718529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.652000	0.67959	2.764000	0.94973	0.650000	0.86243	CAG	SMCHD1	-	NULL		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2728529	1	no_errors	ENST00000320876	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2728529	C	T	2728529	4	4	79	1	0	0	0	0	0	1	0	0	14818	827	29	1	2938	1	SMCHD1	18	2728529	Nonsense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09		2728529	75348719	48	12283										
PALM	5064	genome.wustl.edu	37	chr19	736065	736065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	aggacggttgacggctccccCatgatgaaggcaggtgggtt	16	9	0	3			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:736065C>T	ENST00000338448.5	+	7	535	c.489C>T	c.(487-489)ccC>ccT	p.P163P	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Silent_p.P163P	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	163					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACGGCTCCCCCATGATGAAGG	0.677																																																	0													104	101	102					19																	736065		2203	4300	6503	SO:0001819	synonymous_variant	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.489C>T	19.37:g.736065C>T			O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	pfam_Paralemmin	p.P163	ENST00000338448.5	37	c.489	CCDS32857.1	19																																																																																			PALM	-	pfam_Paralemmin		0.677	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	C	NM_002579		736065	1	no_errors	ENST00000338448	ensembl	human	known	70_37	silent	SNP	0.852	T	T	736065	C	T	736065	2	4	79	1	0	0	0	0	0	0	0	1	11432	581	21	4		4	PALM	19	736065	Silent	SNP	C	TCGA-EA-A411-01A-11D-A243-09		736065	58392918	49	12284										
SAMD1	5566	genome.wustl.edu	37	chr19	14200150	14200150	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	atcttcttcctcttctttctCaagtactcgctcttctccac	2	16	7	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:14200150C>G	ENST00000308677.4	-	0	2677				SAMD1_ENST00000533683.2_Missense_Mutation_p.E221Q|PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						tcttcttTCTCAAGTACTCGC	0.522																																																	0													51	57	55					19																	14200150		1850	3668	5518	SO:0001628	intergenic_variant	90378				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14200150C>G			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E221Q	ENST00000308677.4	37	c.661	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	6.440	0.449332	0.12223	.	.	ENSG00000141858	ENST00000533683	T	0.47528	0.84	3.52	2.28	0.28536	.	0.857433	0.09638	N	0.775366	T	0.30916	0.0780	N	0.19112	0.55	0.26447	N	0.975672	B	0.14438	0.01	B	0.11329	0.006	T	0.14420	-1.0473	10	0.32370	T	0.25	-18.0068	7.8791	0.29612	0.0:0.6476:0.3524:0.0	.	221	E9PIW9	.	Q	221	ENSP00000431971:E221Q	ENSP00000431971:E221Q	E	-	1	0	SAMD1	14061150	0.939000	0.31865	1.000000	0.80357	0.019000	0.09904	1.535000	0.36061	1.670000	0.50864	0.462000	0.41574	GAG	SAMD1	-	NULL		0.522	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14200150	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	missense	SNP	0.999	G	G	14200150	C	G	14200150	1	3	79	0	1	0	0	0	0	0	0	0	13844	835	29	1		1	SAMD1	19	14200150	IGR	SNP	C	TCGA-EA-A411-01A-11D-A243-09	13464085	14200150	44928833	50	12285										
AKAP8L	26993	genome.wustl.edu	37	chr19	15512270	15512270	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	aaggtgtcgttgccacgcatGcggaactggtcgcggtaggc	16	10	0	0			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:15512270G>T	ENST00000397410.5	-	5	637	c.507C>A	c.(505-507)cgC>cgA	p.R169R	AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Silent_p.R108R	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	169						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCACGCATGCGGAACTGGT	0.642																																																	0													54	55	55					19																	15512270		2098	4202	6300	SO:0001819	synonymous_variant	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.507C>A	19.37:g.15512270G>T			B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	pfam_AKAP95	p.R169	ENST00000397410.5	37	c.507	CCDS46005.1	19																																																																																			AKAP8L	-	NULL		0.642	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	G	NM_014371		15512270	-1	no_errors	ENST00000397410	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15512270	G	T	15512270	2	4	79	1	0	0	0	0	0	0	0	1	458	1306	46	4		4	AKAP8L	19	15512270	Silent	SNP	G	TCGA-EA-A411-01A-11D-A243-09	1312120	15512270	43616713	51	12286										
ZNF419	79744	genome.wustl.edu	37	chr19	58004475	58004475	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	accaggtgactcacacaggaGagaagtcacataggagctcc	11	11	2	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:58004475G>C	ENST00000221735.7	+	5	736	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	ZNF419_ENST00000415379.2_Missense_Mutation_p.E138Q|ZNF419_ENST00000424930.2_Missense_Mutation_p.E185Q|ZNF419_ENST00000442920.2_Missense_Mutation_p.E171Q|ZNF419_ENST00000354197.4_Missense_Mutation_p.E172Q|ZNF419_ENST00000347466.6_Missense_Mutation_p.E152Q|ZNF419_ENST00000426954.2_Missense_Mutation_p.E172Q|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACACAGGAGAGAAGTCACA	0.478																																																	0													42	44	43					19																	58004475		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.550G>C	19.37:g.58004475G>C	ENSP00000221735:p.Glu184Gln		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E185Q	ENST00000221735.7	37	c.553	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253672	0.22965	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735;ENST00000521137	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	2.48	2.48	0.30137	.	.	.	.	.	T	0.35799	0.0944	M	0.71206	2.165	0.09310	N	1	P;P;P;P;B;P;P	0.48694	0.475;0.475;0.7;0.475;0.003;0.641;0.914	B;B;B;B;B;B;P	0.55508	0.081;0.118;0.165;0.059;0.002;0.229;0.777	T	0.07888	-1.0749	9	0.66056	D	0.02	.	7.96	0.30066	0.0:0.0:0.7551:0.2448	.	138;138;171;172;185;152;184	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	Q	187;185;172;172;171;185;152;138;184;151	ENSP00000388864:E185Q;ENSP00000390916:E172Q;ENSP00000346136:E172Q;ENSP00000414709:E171Q;ENSP00000299860:E152Q;ENSP00000392129:E138Q;ENSP00000221735:E184Q;ENSP00000429628:E151Q	ENSP00000221735:E184Q	E	+	1	0	ZNF419	62696287	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.441000	0.21611	1.372000	0.46190	0.205000	0.17691	GAG	ZNF419	-	NULL		0.478	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	G	NM_024691		58004475	1	no_errors	ENST00000424930	ensembl	human	known	70_37	missense	SNP	0.001	C	C	58004475	G	C	58004475	3	2	79	1	0	0	0	0	1	0	0	0	17926	943	33	1	571	1	ZNF419	19	58004475	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	42492205	58004475	1124508	52	12287										
PAK7	57144	genome.wustl.edu	37	chr20	9546832	9546832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gggagctcaggtaggaagccGtggagatgtactgcgaactg	17	7	1	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr20:9546832G>A	ENST00000378429.3	-	6	1736	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	PAK7_ENST00000378423.1_Missense_Mutation_p.T397M|PAK7_ENST00000353224.5_Missense_Mutation_p.T397M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	397	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T397K(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTAGGAAGCCGTGGAGATGTA	0.617																																																	2	Substitution - Missense(2)	lung(2)											122	115	117					20																	9546832		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1190C>T	20.37:g.9546832G>A	ENSP00000367686:p.Thr397Met		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.T397M	ENST00000378429.3	37	c.1190	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504081	0.85176	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.32988	1.43;1.43;1.43	5.94	5.94	0.96194	.	0.272621	0.42420	D	0.000709	T	0.44414	0.1292	L	0.44542	1.39	0.58432	D	0.999995	D;B	0.76494	0.999;0.297	P;B	0.56088	0.791;0.038	T	0.04400	-1.0954	9	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	397;397	B0AZM9;Q9P286	.;PAK7_HUMAN	M	397;397;397;345	ENSP00000367686:T397M;ENSP00000322957:T397M;ENSP00000367679:T397M	.	T	-	2	0	PAK7	9494832	0.996000	0.38824	0.958000	0.39756	0.849000	0.48306	2.553000	0.45837	2.807000	0.96579	0.591000	0.81541	ACG	PAK7	-	NULL		0.617	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	G			9546832	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9546832	G	A	9546832	3	1	79	1	0	0	0	0	1	0	0	0	11429	1145	40	2	993	2	PAK7	20	9546832	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09		9546832	53478688	53	12288										
LAMA5	3911	genome.wustl.edu	37	chr20	60889699	60889699	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	gcaggtagaacttgagggcaGtgtaggcagcaaggtcggca	17	7	0	2	rs373711091		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr20:60889699G>C	ENST00000252999.3	-	61	8345	c.8279C>G	c.(8278-8280)aCt>aGt	p.T2760S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2760	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTTGAGGGCAGTGTAGGCAGC	0.642																																																	0													74	80	78					20																	60889699		2201	4300	6501	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8279C>G	20.37:g.60889699G>C	ENSP00000252999:p.Thr2760Ser		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T2760S	ENST00000252999.3	37	c.8279	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	21.3	4.126875	0.77549	.	.	ENSG00000130702	ENST00000252999	T	0.53857	0.6	3.65	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin II (1);	0.056776	0.64402	U	0.000002	T	0.63129	0.2485	L	0.56124	1.755	0.80722	D	1	P	0.47484	0.896	P	0.57846	0.828	T	0.64740	-0.6336	10	0.44086	T	0.13	.	14.9145	0.70785	0.0:0.0:1.0:0.0	.	2760	O15230	LAMA5_HUMAN	S	2760	ENSP00000252999:T2760S	ENSP00000252999:T2760S	T	-	2	0	LAMA5	60323094	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	7.362000	0.79507	1.581000	0.49865	0.457000	0.33378	ACT	LAMA5	-	pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60889699	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60889699	G	C	60889699	3	2	79	1	0	0	0	0	1	0	0	0	8629	1029	36	4	2888	4	LAMA5	20	60889699	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	51342867	60889699	2135821	54	12289										
TRIOBP	11078	genome.wustl.edu	37	chr22	38120147	38120147	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	acacgagacaaccccagaacAtcctgcgcccagcgggacaa	9	16	0	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr22:38120147A>C	ENST00000406386.3	+	7	1839	c.1584A>C	c.(1582-1584)acA>acC	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCAGAACATCCTGCGCCC	0.597																																																	0													63	104	91					22																	38120147		1931	4157	6088	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1584A>C	22.37:g.38120147A>C			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T528	ENST00000406386.3	37	c.1584	CCDS43015.1	22																																																																																			TRIOBP	-	NULL		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	A			38120147	1	no_errors	ENST00000406386	ensembl	human	known	70_37	silent	SNP	0.062	C	C	38120147	A	C	38120147	2	2	79	1	0	0	0	0	0	0	0	1	16584	204	8	5		5	TRIOBP	22	38120147	Silent	SNP	A	TCGA-EA-A411-01A-11D-A243-09		38120147	13184419	55	12290										
TSPAN7	7102	genome.wustl.edu	37	chrX	38533571	38533571	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tggaccatgtgcagcgcagcGtaagttccagaggagatgag	15	8	0	3	rs111443672		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:38533571G>A	ENST00000378482.2	+	4	618		c.e4+1		TM4SF2_ENST00000465127.1_Splice_Site|TSPAN7_ENST00000488893.1_Splice_Site|TSPAN7_ENST00000422612.2_Splice_Site|TSPAN7_ENST00000545599.1_Splice_Site|TSPAN7_ENST00000286824.6_Splice_Site	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7						viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCAGCGCAGCGTAAGTTCCAG	0.502																																																	0													91	66	75					X																	38533571		2200	4296	6496	SO:0001630	splice_region_variant	7102			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.441+1G>A	X.37:g.38533571G>A			B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Splice_Site	SNP	-	e5+1	ENST00000378482.2	37	c.519+1	CCDS14248.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513672	0.85389	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0087	0.92863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP5-972B16.2;TSPAN7	38418515	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	9.281000	0.95811	2.436000	0.82500	0.600000	0.82982	.	TSPAN7	-	-		0.502	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	G		Intron	38533571	1	no_errors	ENST00000422612	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	38533571	G	A	38533571	5	1	79	1	0	0	0	0	0	0	1	0	16683	1159	40	2	456	2	TSPAN7	23	38533571	Splice_Site	SNP	G	TCGA-EA-A411-01A-11D-A243-09		38533571	116736989	56	12291										
USP51	158880	genome.wustl.edu	37	chrX	55514364	55514364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tggctcctgttcctttgtctCacaggttgattgcttgtctt	9	10	2	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:55514364C>G	ENST00000500968.3	-	2	1091	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	337					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCCTTTGTCTCACAGGTTGAT	0.373																																																	0													100	98	99					X																	55514364		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1009G>C	X.37:g.55514364C>G	ENSP00000423333:p.Glu337Gln		Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.E337Q	ENST00000500968.3	37	c.1009	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	13.11	2.139252	0.37728	.	.	ENSG00000247746	ENST00000500968	T	0.11385	2.78	3.19	2.29	0.28610	.	0.309716	0.34700	U	0.003751	T	0.15739	0.0379	L	0.32530	0.975	0.51482	D	0.999928	D	0.69078	0.997	P	0.61201	0.885	T	0.01661	-1.1301	10	0.56958	D	0.05	.	7.379	0.26845	0.0:0.7347:0.2653:0.0	.	337	Q70EK9	UBP51_HUMAN	Q	337	ENSP00000423333:E337Q	ENSP00000423333:E337Q	E	-	1	0	USP51	55531089	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	3.119000	0.50422	0.709000	0.31976	0.508000	0.49915	GAG	USP51	-	NULL		0.373	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55514364	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55514364	C	G	55514364	3	3	79	1	0	0	0	0	1	0	0	0	17114	835	29	1	1130	1	USP51	23	55514364	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	16980793	55514364	99756196	57	12292										
PABPC5	140886	genome.wustl.edu	37	chrX	90691628	90691628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tgtggtctgcttttcctcttTtgaagaggctaccaaagcag	10	9	2	2			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:90691628T>C	ENST00000312600.3	+	2	1266	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	PABPC5_ENST00000373105.1_Missense_Mutation_p.F187S|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	351	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TTTTCCTCTTTTGAAGAGGCT	0.532																																																	0													49	48	49					X																	90691628		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1052T>C	X.37:g.90691628T>C	ENSP00000308012:p.Phe351Ser		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.F351S	ENST00000312600.3	37	c.1052	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	5.264	0.234115	0.09969	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.14266	2.52;2.52	4.14	1.71	0.24356	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.115131	0.64402	D	0.000012	T	0.04137	0.0115	N	0.01188	-0.97	0.33063	D	0.534339	B	0.13594	0.008	B	0.14578	0.011	T	0.12451	-1.0547	10	0.62326	D	0.03	.	5.7548	0.18166	0.0:0.3499:0.0:0.6501	.	351	Q96DU9	PABP5_HUMAN	S	187;351;319	ENSP00000362197:F187S;ENSP00000308012:F351S	ENSP00000308012:F351S	F	+	2	0	PABPC5	90578284	1.000000	0.71417	0.982000	0.44146	0.264000	0.26372	5.653000	0.67967	0.243000	0.21327	-0.509000	0.04479	TTT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.532	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	T	NM_080832		90691628	1	no_errors	ENST00000312600	ensembl	human	known	70_37	missense	SNP	0.998	C	C	90691628	T	C	90691628	3	2	79	1	0	0	0	0	1	0	0	0	11391	1841	64	5	1054	5	PABPC5	23	90691628	Missense_Mutation	SNP	T	TCGA-EA-A411-01A-11D-A243-09	35177264	90691628	64578932	58	12293										
SRPX2	27286	genome.wustl.edu	37	chrX	99920650	99920650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tgcaagttcattgtgaaagtAcaaggtcagaaagaattatt	9	4	2	3			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:99920650A>G	ENST00000373004.3	+	7	1205	c.777A>G	c.(775-777)gtA>gtG	p.V259V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	259	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TTGTGAAAGTACAAGGTCAGA	0.483																																																	0													125	120	122					X																	99920650		2203	4300	6503	SO:0001819	synonymous_variant	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.777A>G	X.37:g.99920650A>G			B3KQT3|Q8WW85	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.V259	ENST00000373004.3	37	c.777	CCDS14471.1	X																																																																																			SRPX2	-	pfam_Hyalin,pfscan_Hyalin		0.483	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	A	NM_014467		99920650	1	no_errors	ENST00000373004	ensembl	human	known	70_37	silent	SNP	0.986	G	G	99920650	A	G	99920650	2	3	79	1	0	0	0	0	0	0	0	1	15195	378	14	5		5	SRPX2	23	99920650	Silent	SNP	A	TCGA-EA-A411-01A-11D-A243-09	9229022	99920650	55349910	59	12294										
ZMAT1	84460	genome.wustl.edu	37	chrX	101141647	101141647	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	catgtgggaccggaacatatCtaaagatgtaaaagcaatac	9	7	1	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:101141647C>A	ENST00000372782.3	-	6	609	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	ZMAT1_ENST00000540921.1_Missense_Mutation_p.D188Y|ZMAT1_ENST00000458570.1_Missense_Mutation_p.D17Y|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	188						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CGGAACATATCTAAAGATGTA	0.333																																																	0													134	114	121					X																	101141647		2202	4300	6502	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.562G>T	X.37:g.101141647C>A	ENSP00000361868:p.Asp188Tyr		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.D188Y	ENST00000372782.3	37	c.562	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794221	0.50102	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.41065	1.98;1.98;1.01	4.94	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.461215	0.18458	N	0.140602	T	0.22003	0.0530	N	0.08118	0	0.28197	N	0.927507	P	0.45634	0.863	B	0.41036	0.346	T	0.05099	-1.0906	10	0.48119	T	0.1	-3.2977	7.3266	0.26560	0.0:0.7285:0.1729:0.0986	.	188	Q5H9K5	ZMAT1_HUMAN	Y	188;188;17	ENSP00000361868:D188Y;ENSP00000437529:D188Y;ENSP00000413044:D17Y	ENSP00000361868:D188Y	D	-	1	0	ZMAT1	101028303	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.197000	0.51028	0.573000	0.29400	0.594000	0.82650	GAT	ZMAT1	-	smart_Znf_U1,smart_Znf_C2H2-like		0.333	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	C			101141647	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101141647	C	A	101141647	3	1	79	1	0	0	0	0	1	0	0	0	17721	913	32	3	1362	3	ZMAT1	23	101141647	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	1220997	101141647	54128913	60	12295										
IL1RAPL2	26280	genome.wustl.edu	37	chrX	104961396	104961396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	cccctgcaaagcattcttcgGattcagtggagagtctgggc	12	11	3	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:104961396G>T	ENST00000372582.1	+	7	1565	c.809G>T	c.(808-810)gGa>gTa	p.G270V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	270	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCATTCTTCGGATTCAGTGGA	0.433																																																	0													161	152	155					X																	104961396		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.809G>T	X.37:g.104961396G>T	ENSP00000361663:p.Gly270Val		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.G270V	ENST00000372582.1	37	c.809	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321137	0.81580	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03496	3.91;3.91	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.19485	0.0468	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00314	-1.1824	10	0.56958	D	0.05	.	16.8989	0.86108	0.0:0.0:1.0:0.0	.	270	Q9NP60	IRPL2_HUMAN	V	270	ENSP00000361663:G270V;ENSP00000344976:G270V	ENSP00000344976:G270V	G	+	2	0	IL1RAPL2	104848052	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.367000	0.97148	2.197000	0.70478	0.506000	0.49869	GGA	IL1RAPL2	-	smart_Ig_sub,pfscan_Ig-like		0.433	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	G	NM_017416		104961396	1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104961396	G	T	104961396	3	4	79	1	0	0	0	0	1	0	0	0	7682	1174	41	3	831	3	IL1RAPL2	23	104961396	Missense_Mutation	SNP	G	TCGA-EA-A411-01A-11D-A243-09	3819749	104961396	50309164	61	12296										
ABCD1	215	genome.wustl.edu	37	chrX	152990941	152990941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.0255274945377882	2.08873613497891	5.15221579961464	1.10404624277457	0.66992140985949	0.845855293358322	5	tgaaccgggtattcctgcagCggctcctgtggctcctgcgg	14	13	0	1			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:152990941C>T	ENST00000218104.3	+	1	619	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	74	Interaction with PEX19.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTGCAGCGGCTCCTGTG	0.741																																																	0													5	7	6					X																	152990941		2037	3980	6017	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.220C>T	X.37:g.152990941C>T	ENSP00000218104:p.Arg74Trp		Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.R74W	ENST00000218104.3	37	c.220	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045084	0.55110	.	.	ENSG00000101986	ENST00000218104	D	0.99706	-6.47	5.28	5.28	0.74379	ABC transporter, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99619	0.9861	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.97828	1.0261	10	0.87932	D	0	-18.0611	11.8447	0.52376	0.1751:0.8249:0.0:0.0	.	74	P33897	ABCD1_HUMAN	W	74	ENSP00000218104:R74W	ENSP00000218104:R74W	R	+	1	2	ABCD1	152644135	0.880000	0.30214	1.000000	0.80357	0.579000	0.36224	1.594000	0.36697	2.189000	0.69895	0.436000	0.28706	CGG	ABCD1	-	pfam_ABC_Ald_N,tigrfam_FA_transporter		0.741	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	C	NM_000033		152990941	1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	0.849	T	T	152990941	C	T	152990941	3	4	79	1	0	0	0	0	1	0	0	0	60	759	27	2	222	2	ABCD1	23	152990941	Missense_Mutation	SNP	C	TCGA-EA-A411-01A-11D-A243-09	48029545	152990941	2279619	62	12297										
NOC2L	26155	genome.wustl.edu	37	chr1	891554	891554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gtggccacagctgctcggaaCgcctgtaccacttcatggaa	11	13	1	0	rs141993612		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:891554C>T	ENST00000327044.6	-	5	577	c.528G>A	c.(526-528)gcG>gcA	p.A176A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	176					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGCTCGGAACGCCTGTACCA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		17603	0		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	86	82	83		528	-10.3	0.8	1	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	NOC2L	NM_015658.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		176/750	891554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.528G>A	1.37:g.891554C>T			Q5SVA3|Q9BTN6	Silent	SNP	pfam_UPF0120,superfamily_ARM-type_fold	p.A176	ENST00000327044.6	37	c.528	CCDS3.1	1																																																																																			NOC2L	-	NULL		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	C	NM_015658		891554	-1	no_errors	ENST00000327044	ensembl	human	known	70_37	silent	SNP	0.043	T	T	891554	C	T	891554	2	4	80	1	0	0	0	0	0	0	0	1	10537	523	19	2		2	NOC2L	1	891554	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09		891554	248359067	1	12298										
AGRN	375790	genome.wustl.edu	37	chr1	984694	984694	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cagtggcaccgcctggagctGtcccggcactggcgccgggg	17	15	0	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:984694G>T	ENST00000379370.2	+	25	4427	c.4377G>T	c.(4375-4377)ctG>ctT	p.L1459L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCTGGAGCTGTCCCGGCACT	0.697																																																	0													25	31	29					1																	984694		2194	4296	6490	SO:0001819	synonymous_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4377G>T	1.37:g.984694G>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.L1459	ENST00000379370.2	37	c.4377	CCDS30551.1	1																																																																																			AGRN	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	G	NM_198576		984694	1	no_errors	ENST00000379370	ensembl	human	known	70_37	silent	SNP	0.999	T	T	984694	G	T	984694	2	4	80	1	0	0	0	0	0	0	0	1	397	1364	48	4		4	AGRN	1	984694	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	93140	984694	248265927	2	12299										
KIF1B	23095	genome.wustl.edu	37	chr1	10327472	10327472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aatttactgtgaaagagtacGagatttgctgaatccaaaaa	8	5	0	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:10327472G>A	ENST00000377086.1	+	6	666	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	KIF1B_ENST00000377083.1_Missense_Mutation_p.R155Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R155Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R155Q|KIF1B_ENST00000377093.4_Missense_Mutation_p.R155Q			O60333	KIF1B_HUMAN	kinesin family member 1B	155	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAAAGAGTACGAGATTTGCTG	0.428																																																	0													92	83	86					1																	10327472		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.464G>A	1.37:g.10327472G>A	ENSP00000366290:p.Arg155Gln		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R155Q	ENST00000377086.1	37	c.464		1	.	.	.	.	.	.	.	.	.	.	G	36	5.832035	0.97003	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.62	5.62	0.85841	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;P;D;D	0.97110	0.996;0.997;1.0;1.0;0.772;0.972;0.995	D	0.94305	0.7540	10	0.87932	D	0	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	155;155;155;155;155;155;155	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	Q	155	ENSP00000263934:R155Q;ENSP00000366297:R155Q;ENSP00000366290:R155Q;ENSP00000366287:R155Q;ENSP00000366284:R155Q	ENSP00000263934:R155Q	R	+	2	0	KIF1B	10250059	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.814000	0.96858	0.585000	0.79938	CGA	KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.428	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10327472	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10327472	G	A	10327472	3	1	80	1	0	0	0	0	1	0	0	0	8304	1058	37	1	482	1	KIF1B	1	10327472	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	9342778	10327472	238923149	3	12300										
ALPL	249	genome.wustl.edu	37	chr1	21887187	21887187	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgaaatatgccctggagcttCagaagctcaacaccaacgtg	9	11	2	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:21887187C>G	ENST00000374840.3	+	3	380	c.130C>G	c.(130-132)Cag>Gag	p.Q44E	ALPL_ENST00000374832.1_Missense_Mutation_p.Q44E|ALPL_ENST00000539907.1_Missense_Mutation_p.F5L|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.Q44E|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	44					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CCTGGAGCTTCAGAAGCTCAA	0.542																																																	0			GRCh37	HM971627	ALPL	M							83	81	82					1																	21887187		2203	4300	6503	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.130C>G	1.37:g.21887187C>G	ENSP00000363973:p.Gln44Glu		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.Q44E	ENST00000374840.3	37	c.130	CCDS217.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853440|2.853440	0.51270|0.51270	.|.	.|.	ENSG00000162551|ENSG00000162551	ENST00000539907|ENST00000374840;ENST00000374832;ENST00000425315	D|D;D;D	0.95885|0.95885	-3.84|-3.84;-3.84;-3.84	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	.|0.053667	.|0.85682	.|D	.|0.000000	D|D	0.92916|0.92916	0.7746|0.7746	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|D	0.17038|0.53151	0.02;0.009|0.958	B;B|B	0.19148|0.39706	0.024;0.01|0.307	D|D	0.92103|0.92103	0.5690|0.5690	8|9	0.87932|0.31617	D|T	0|0.26	-12.1607|-12.1607	18.4213|18.4213	0.90591|0.90591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	5;5|44	B7Z387;B7Z1D1|P05186	.;.|PPBT_HUMAN	L|E	5|44	ENSP00000437674:F5L|ENSP00000363973:Q44E;ENSP00000363965:Q44E;ENSP00000394765:Q44E	ENSP00000437674:F5L|ENSP00000363965:Q44E	F|Q	+|+	3|1	2|0	ALPL|ALPL	21759774|21759774	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.896000|0.896000	0.52359|0.52359	4.097000|4.097000	0.57741|0.57741	2.698000|2.698000	0.92095|0.92095	0.561000|0.561000	0.74099|0.74099	TTC|CAG	ALPL	-	superfamily_Alkaline_phosphatase_core		0.542	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	C	NM_000478		21887187	1	no_errors	ENST00000374832	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21887187	C	G	21887187	3	3	80	1	0	0	0	0	1	0	0	0	547	827	29	1	136	1	ALPL	1	21887187	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	11559715	21887187	227363434	4	12301										
C1orf91	56063	genome.wustl.edu	37	chr1	32686761	32686761	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ccaaggtgaggtaatagagaAgggatccacactggttgagg	15	6	0	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:32686761A>C	ENST00000344461.3	-	3	221	c.206T>G	c.(205-207)cTt>cGt	p.L69R	EIF3I_ENST00000373586.1_5'Flank|TMEM234_ENST00000373593.1_Missense_Mutation_p.L69R|TMEM234_ENST00000545122.1_Missense_Mutation_p.L69R|TMEM234_ENST00000309777.6_Missense_Mutation_p.L69R			Q8WY98	TM234_HUMAN	transmembrane protein 234	69						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						GTAATAGAGAAGGGATCCACA	0.547																																																	0													145	111	122					1																	32686761		2203	4300	6503	SO:0001583	missense	56063			AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 91"	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.206T>G	1.37:g.32686761A>C	ENSP00000344021:p.Leu69Arg		B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	pfam_UPF0546	p.L69R	ENST00000344461.3	37	c.206		1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218471	0.79464	.	.	ENSG00000160055	ENST00000545122;ENST00000309777;ENST00000373593;ENST00000344461	T;T	0.71934	-0.61;-0.61	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	D	0.83903	0.5355	M	0.79926	2.475	0.49687	D	0.999811	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.974	D	0.86530	0.1821	10	0.72032	D	0.01	-19.5073	14.9144	0.70785	1.0:0.0:0.0:0.0	.	69;69	Q8WY98-2;Q8WY98-3	.;.	R	69	ENSP00000309792:L69R;ENSP00000344021:L69R	ENSP00000309792:L69R	L	-	2	0	TMEM234	32459348	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.164000	0.77533	2.070000	0.61991	0.379000	0.24179	CTT	TMEM234	-	pfam_UPF0546		0.547	TMEM234-009	PUTATIVE	basic	protein_coding	TMEM234	HGNC	protein_coding	OTTHUMT00000092260.2	A	NM_019118		32686761	-1	no_errors	ENST00000461402	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32686761	A	C	32686761	3	2	80	1	0	0	0	0	1	0	0	0	2073	72	3	5	228	5	C1orf91	1	32686761	Missense_Mutation	SNP	A	TCGA-EA-A439-01A-11D-A243-09	10799574	32686761	216563860	5	12302										
RLF	6018	genome.wustl.edu	37	chr1	40705375	40705375	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tttgatgcagatactctgctCtacaggggaactttgaaatg	10	7	2	3	rs552190750		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:40705375C>A	ENST00000372771.4	+	8	5028	c.5001C>A	c.(4999-5001)ctC>ctA	p.L1667L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1667					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATACTCTGCTCTACAGGGGAA	0.418													C|||	1	0.000199681	0	0	5008	,	,		20504	0		0.001	False		,,,				2504	0																0													82	79	80					1																	40705375		2203	4300	6503	SO:0001819	synonymous_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5001C>A	1.37:g.40705375C>A			Q14CQ1|Q9NU60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1667	ENST00000372771.4	37	c.5001	CCDS448.1	1																																																																																			RLF	-	NULL		0.418	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	C	NM_012421		40705375	1	no_errors	ENST00000372771	ensembl	human	known	70_37	silent	SNP	0.326	A	A	40705375	C	A	40705375	2	1	80	1	0	0	0	0	0	0	0	1	13419	900	32	3		3	RLF	1	40705375	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	8018614	40705375	208545246	6	12303										
FAM151A	338094	genome.wustl.edu	37	chr1	55075436	55075436	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agcaaggccagggatggccgGagggctgcgggctccgctat	18	11	0	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:55075436G>C	ENST00000302250.2	-	8	1423	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	421						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGGATGGCCGGAGGGCTGCGG	0.627																																																	0													41	45	44					1																	55075436		2203	4300	6503	SO:0001819	synonymous_variant	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1263C>G	1.37:g.55075436G>C			Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	pfam_DUF2181	p.L421	ENST00000302250.2	37	c.1263	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181		0.627	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	G	NM_176782		55075436	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	silent	SNP	0.999	C	C	55075436	G	C	55075436	2	2	80	1	0	0	0	0	0	0	0	1	5473	1161	41	1		1	FAM151A	1	55075436	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	14370061	55075436	194175185	7	12304			1	50		2	2	12	G		4.619247e-05
FAM151A	338094	genome.wustl.edu	37	chr1	55075447	55075447	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ggatggccggagggctgcggGctccgctatttgcaaatgga	17	9	0	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:55075447G>C	ENST00000302250.2	-	8	1412	c.1252C>G	c.(1252-1254)Ccc>Gcc	p.P418A	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	418						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGGCTGCGGGCTCCGCTATT	0.622																																																	0													43	46	45					1																	55075447		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1252C>G	1.37:g.55075447G>C	ENSP00000306888:p.Pro418Ala		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.P418A	ENST00000302250.2	37	c.1252	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	G	9.062	0.994688	0.19043	.	.	ENSG00000162391	ENST00000302250	T	0.10477	2.87	4.17	4.17	0.49024	.	0.092272	0.45867	D	0.000337	T	0.24967	0.0606	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04767	-1.0928	10	0.07990	T	0.79	-27.945	12.2934	0.54831	0.0:0.0:1.0:0.0	.	418	Q8WW52	F151A_HUMAN	A	418	ENSP00000306888:P418A	ENSP00000306888:P418A	P	-	1	0	FAM151A	54848035	0.954000	0.32549	0.430000	0.26722	0.102000	0.19082	1.894000	0.39768	2.608000	0.88229	0.655000	0.94253	CCC	FAM151A	-	pfam_DUF2181		0.622	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	G	NM_176782		55075447	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	missense	SNP	0.864	C	C	55075447	G	C	55075447	3	2	80	1	0	0	0	0	1	0	0	0	5473	1203	42	4	509	4	FAM151A	1	55075447	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	11	55075447	194175174	8	12305			1	50		2	2	12	G		4.619247e-05
MIER1	57708	genome.wustl.edu	37	chr1	67423820	67423820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gactacctgaagaagatgagGaagaggaagaagaggaagaa	15	3	0	8			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:67423820G>A	ENST00000355356.3	+	4	408	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	MIER1_ENST00000371016.1_Missense_Mutation_p.E104K|MIER1_ENST00000355977.6_Missense_Mutation_p.E24K|MIER1_ENST00000371014.1_Missense_Mutation_p.E140K|MIER1_ENST00000357692.2_Missense_Mutation_p.E104K|MIER1_ENST00000371018.3_Missense_Mutation_p.E104K|MIER1_ENST00000401042.3_Missense_Mutation_p.E87K|MIER1_ENST00000401041.1_Missense_Mutation_p.E140K|MIER1_ENST00000479067.1_3'UTR	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	87	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						agaagatgaggaagaggaaga	0.378																																																	0													97	99	98					1																	67423820		2031	4192	6223	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.259G>A	1.37:g.67423820G>A	ENSP00000347514:p.Glu87Lys		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E140K	ENST00000355356.3	37	c.418	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289161	0.59976	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.46063	0.88;0.99;0.88;0.88;0.88;0.88;0.88;0.88	5.42	5.42	0.78866	.	0.842410	0.10969	N	0.614051	T	0.26810	0.0656	L	0.29908	0.895	0.52099	D	0.999949	B;P;B;B;B;P;P;B;B	0.48694	0.417;0.682;0.275;0.288;0.043;0.914;0.911;0.049;0.397	B;B;B;B;B;B;P;B;B	0.45276	0.098;0.188;0.128;0.109;0.025;0.359;0.475;0.065;0.194	T	0.12268	-1.0554	10	0.18276	T	0.48	-10.3787	19.1967	0.93691	0.0:0.0:1.0:0.0	.	104;104;87;87;24;111;104;140;140	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	108;104;24;104;140;104;140;87;87	ENSP00000360057:E104K;ENSP00000348253:E24K;ENSP00000350321:E104K;ENSP00000383820:E140K;ENSP00000360055:E104K;ENSP00000360053:E140K;ENSP00000383821:E87K;ENSP00000347514:E87K	ENSP00000347514:E87K	E	+	1	0	MIER1	67196408	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.697000	0.91307	2.702000	0.92279	0.591000	0.81541	GAA	MIER1	-	NULL		0.378	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	G	NM_020948		67423820	1	no_errors	ENST00000401041	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67423820	G	A	67423820	3	1	80	1	0	0	0	0	1	0	0	0	9603	1175	41	1	513	1	MIER1	1	67423820	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	12348373	67423820	181826801	9	12306										
FLG	2312	genome.wustl.edu	37	chr1	152275919	152275919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gtctcctgactgttcctcatTacgtgtttctctgcttgcac	7	13	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:152275919T>A	ENST00000368799.1	-	3	11478	c.11443A>T	c.(11443-11445)Aat>Tat	p.N3815Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3815	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCCTCATTACGTGTTTCT	0.582									Ichthyosis																																								0													373	364	367					1																	152275919		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11443A>T	1.37:g.152275919T>A	ENSP00000357789:p.Asn3815Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.N3815Y	ENST00000368799.1	37	c.11443	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.455283	0.01071	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.47	-4.95	0.03048	.	.	.	.	.	T	0.00552	0.0018	L	0.54323	1.7	0.09310	N	1	P	0.49185	0.92	B	0.41036	0.346	T	0.17837	-1.0356	9	0.59425	D	0.04	.	1.1709	0.01825	0.131:0.2375:0.2603:0.3712	.	3815	P20930	FILA_HUMAN	Y	3815	ENSP00000357789:N3815Y	ENSP00000357789:N3815Y	N	-	1	0	FLG	150542543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.552000	0.00217	-3.334000	0.00185	-3.462000	0.00035	AAT	FLG	-	NULL		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	T	NM_002016		152275919	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152275919	T	A	152275919	3	1	80	1	0	0	0	0	1	0	0	0	5940	1754	61	5	746	5	FLG	1	152275919	Missense_Mutation	SNP	T	TCGA-EA-A439-01A-11D-A243-09	84852099	152275919	96974702	10	12307										
DCAF8	50717	genome.wustl.edu	37	chr1	160187440	160187440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cctcgtccgatgtgtctgagGagctgggagactcatcagag	14	10	3	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:160187440G>A	ENST00000368073.3	-	14	2170	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	DCAF8_ENST00000556710.1_Missense_Mutation_p.S733F|DCAF8_ENST00000368074.1_Missense_Mutation_p.S579F|DCAF8_ENST00000326837.2_Missense_Mutation_p.S579F|DCAF8_ENST00000608310.1_Missense_Mutation_p.S733F			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	579					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGTCTGAGGAGCTGGGAGA	0.612																																																	0													68	69	68					1																	160187440		2203	4300	6503	SO:0001583	missense	50717			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1736C>T	1.37:g.160187440G>A	ENSP00000357052:p.Ser579Phe		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S733F	ENST00000368073.3	37	c.2198	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718889	0.68844	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.23;-0.23	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000020	T	0.76772	0.4034	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.979	T	0.78196	-0.2298	10	0.72032	D	0.01	-9.0091	17.7322	0.88380	0.0:0.0:1.0:0.0	.	733;579	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	F	579;579;579;733;560;733	ENSP00000357052:S579F;ENSP00000318227:S579F;ENSP00000357053:S579F;ENSP00000451989:S733F;ENSP00000451235:S733F	ENSP00000318227:S579F	S	-	2	0	RP11-574F21.3;DCAF8	158454064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.470000	0.90399	2.721000	0.93114	0.655000	0.94253	TCC	DCAF8	-	NULL		0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	G	NM_015726		160187440	-1	no_errors	ENST00000555195	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160187440	G	A	160187440	3	1	80	1	0	0	0	0	1	0	0	0	4281	1174	41	1	61	1	DCAF8	1	160187440	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	7911521	160187440	89063181	11	12308										
ATP1B1	481	genome.wustl.edu	37	chr1	169100675	169100675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gctggccgtacagttcaccaAtcttaccatggacactgaaa	8	12	2	1	rs369488918		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:169100675A>G	ENST00000367816.1	+	7	1323	c.794A>G	c.(793-795)aAt>aGt	p.N265S	ATP1B1_ENST00000499679.3_Missense_Mutation_p.N209S|ATP1B1_ENST00000367815.4_Missense_Mutation_p.N265S|ATP1B1_ENST00000367813.3_Missense_Mutation_p.N257S			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	265	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					CAGTTCACCAATCTTACCATG	0.488													A|||	1	0.000199681	0	0	5008	,	,		19658	0		0	False		,,,				2504	0.001																0								A	SER/ASN	0,4406		0,0,2203	107	102	104		794	5.5	1	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1B1	NM_001677.3	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	265/304	169100675	1,13005	2203	4300	6503	SO:0001583	missense	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.794A>G	1.37:g.169100675A>G	ENSP00000356790:p.Asn265Ser		Q5TGZ3	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.N265S	ENST00000367816.1	37	c.794	CCDS1276.1	1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694545	0.68386	0.0	1.16E-4	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	L	0.61218	1.895	0.47862	D	0.999530	D	0.89917	1.0	D	0.87578	0.998	T	0.22626	-1.0211	9	0.24483	T	0.36	-8.4305	15.5262	0.75910	1.0:0.0:0.0:0.0	.	265	P05026	AT1B1_HUMAN	S	265;265;209;257	ENSP00000356790:N265S;ENSP00000356789:N265S;ENSP00000423450:N209S;ENSP00000356787:N257S	ENSP00000356787:N257S	N	+	2	0	ATP1B1	167367299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.832000	0.92079	2.076000	0.62316	0.528000	0.53228	AAT	ATP1B1	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.488	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	A			169100675	1	no_errors	ENST00000367815	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169100675	A	G	169100675	3	3	80	1	0	0	0	0	1	0	0	0	1133	101	4	5	816	5	ATP1B1	1	169100675	Missense_Mutation	SNP	A	TCGA-EA-A439-01A-11D-A243-09	8913235	169100675	80149946	12	12309										
LAMB3	3914	genome.wustl.edu	37	chr1	209823454	209823454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cttgttgggcatgcaggaggCcaggcagggctgaaatcaca	15	9	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:209823454C>T	ENST00000356082.4	-	3	172	c.38G>A	c.(37-39)gGc>gAc	p.G13D	LAMB3_ENST00000367030.3_Missense_Mutation_p.G13D|LAMB3_ENST00000391911.1_Missense_Mutation_p.G13D	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	13					brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGCAGGAGGCCAGGCAGGGC	0.572																																																	0													33	31	31					1																	209823454		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.38G>A	1.37:g.209823454C>T	ENSP00000348384:p.Gly13Asp		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.G13D	ENST00000356082.4	37	c.38	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932155	0.52866	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	T;T;T;T	0.76578	1.26;1.26;1.26;-1.03	5.39	4.42	0.53409	.	0.926035	0.09261	N	0.826607	T	0.67618	0.2912	L	0.53249	1.67	0.23720	N	0.997026	B;B	0.32245	0.18;0.361	B;B	0.22601	0.04;0.036	T	0.58070	-0.7701	10	0.37606	T	0.19	.	3.9204	0.09240	0.1689:0.5819:0.1628:0.0864	.	13;13	B4DL55;Q13751	.;LAMB3_HUMAN	D	13	ENSP00000375778:G13D;ENSP00000348384:G13D;ENSP00000355997:G13D;ENSP00000388960:G13D	ENSP00000348384:G13D	G	-	2	0	LAMB3	207890077	0.005000	0.15991	0.993000	0.49108	0.976000	0.68499	0.028000	0.13644	2.534000	0.85438	0.650000	0.86243	GGC	LAMB3	-	NULL		0.572	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209823454	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	0.629	T	T	209823454	C	T	209823454	3	4	80	1	0	0	0	0	1	0	0	0	8632	739	26	4	3564	4	LAMB3	1	209823454	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	40722779	209823454	39427167	13	12310										
SCCPDH	51097	genome.wustl.edu	37	chr1	246903556	246903556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tggaagcagcggctttgactCcattccagcagatctgggag	13	10	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:246903556C>A	ENST00000366510.3	+	4	843	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	156						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTTTGACTCCATTCCAGCA	0.363																																																	0													56	58	58					1																	246903556		2203	4300	6503	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.467C>A	1.37:g.246903556C>A	ENSP00000355467:p.Ser156Tyr		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.S156Y	ENST00000366510.3	37	c.467	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678643	0.88542	.	.	ENSG00000143653	ENST00000366510	T	0.46451	0.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.92691	3.335	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.79967	-0.1580	10	0.87932	D	0	.	18.7339	0.91746	0.0:1.0:0.0:0.0	.	156	Q8NBX0	SCPDL_HUMAN	Y	156	ENSP00000355467:S156Y	ENSP00000355467:S156Y	S	+	2	0	SCCPDH	244970179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.317000	0.65822	2.733000	0.93635	0.555000	0.69702	TCC	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn		0.363	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	C	NM_016002		246903556	1	no_errors	ENST00000366510	ensembl	human	known	70_37	missense	SNP	1.000	A	A	246903556	C	A	246903556	3	1	80	1	0	0	0	0	1	0	0	0	13915	855	30	3	481	3	SCCPDH	1	246903556	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	37080102	246903556	2347065	14	12311										
CD8A	925	genome.wustl.edu	37	chr2	87017672	87017672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgggactggcggcggcgccgCgcggctggaagagccacgag	20	12	0	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:87017672C>G	ENST00000409511.2	-	5	1212	c.182G>C	c.(181-183)cGc>cCc	p.R61P	CD8A_ENST00000409781.1_Missense_Mutation_p.R61P|CD8A_ENST00000456996.2_Missense_Mutation_p.R61P|CD8A_ENST00000538832.1_Missense_Mutation_p.R102P|CD8A_ENST00000352580.3_Missense_Mutation_p.R61P|CD8A_ENST00000283635.3_Missense_Mutation_p.R61P	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	61	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGCGGCGCCGCGCGGCTGGAA	0.672																																																	0													31	39	36					2																	87017672		2200	4297	6497	SO:0001583	missense	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.182G>C	2.37:g.87017672C>G	ENSP00000386559:p.Arg61Pro		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R102P	ENST00000409511.2	37	c.305	CCDS1992.1	2	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821322	0.16678	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.69	-2.69	0.06022	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	2.296160	0.01469	N	0.016191	T	0.11410	0.0278	N	0.00453	-1.485	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.15464	-1.0436	10	0.13853	T	0.58	-7.6347	3.6034	0.08032	0.231:0.1895:0.4804:0.099	.	102;61;61	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	P	61;61;61;61;61;102;61	ENSP00000398868:R61P;ENSP00000321631:R61P;ENSP00000283635:R61P;ENSP00000386559:R61P;ENSP00000438371:R102P;ENSP00000387314:R61P	ENSP00000283635:R61P	R	-	2	0	CD8A	86871183	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.547000	0.00931	-0.350000	0.08262	-0.305000	0.09177	CGC	CD8A	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.672	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	C	NM_001768		87017672	-1	no_errors	ENST00000538832	ensembl	human	known	70_37	missense	SNP	0.000	G	G	87017672	C	G	87017672	3	3	80	1	0	0	0	0	1	0	0	0	3049	768	27	2	545	2	CD8A	2	87017672	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		87017672	156181701	15	12312										
RGPD3	653489	genome.wustl.edu	37	chr2	107029640	107029640	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctttcactacctggcttcaaGaaaatgaactgcagcaagac	7	11	2	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:107029640G>A	ENST00000409886.3	-	22	5253	c.5166C>T	c.(5164-5166)ttC>ttT	p.F1722F	RGPD3_ENST00000304514.7_Silent_p.F1722F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1722	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGGCTTCAAGAAAATGAACT	0.423																																																	0													33	63	54					2																	107029640		692	1587	2279	SO:0001819	synonymous_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5166C>T	2.37:g.107029640G>A			B8ZZM4	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.F1722	ENST00000409886.3	37	c.5166	CCDS46379.1	2																																																																																			RGPD3	-	pfam_GRIP,smart_GRIP,pfscan_GRIP		0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	G	XM_929931		107029640	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	silent	SNP	1.000	A	A	107029640	G	A	107029640	2	1	80	1	0	0	0	0	0	0	0	1	13317	933	33	1		1	RGPD3	2	107029640	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	20011968	107029640	136169733	16	12313										
CXCR4	7852	genome.wustl.edu	37	chr2	136872945	136872945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ggggtagaagcggtcacagaTatatctgtcatctgcctcac	11	10	5	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:136872945T>C	ENST00000241393.3	-	2	657	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	CXCR4_ENST00000409817.1_Missense_Mutation_p.I189V|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CGGTCACAGATATATCTGTCA	0.512																																																	0													133	119	124					2																	136872945		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.553A>G	2.37:g.136872945T>C	ENSP00000241393:p.Ile185Val		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.I189V	ENST00000241393.3	37	c.565	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.404364	0.01155	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.36340	1.26;1.26	6.17	0.829	0.18847	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.12178	0.0296	N	0.02697	-0.525	0.24619	N	0.993682	B;B	0.10296	0.001;0.003	B;B	0.15052	0.012;0.002	T	0.33240	-0.9876	10	0.13470	T	0.59	.	1.4771	0.02429	0.1161:0.2339:0.2648:0.3852	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	V	189;185;55	ENSP00000386884:I189V;ENSP00000241393:I185V	ENSP00000241393:I185V	I	-	1	0	CXCR4	136589415	0.036000	0.19791	0.480000	0.27341	0.402000	0.30811	0.259000	0.18405	0.527000	0.28560	0.533000	0.62120	ATC	CXCR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	T			136872945	-1	no_errors	ENST00000409817	ensembl	human	known	70_37	missense	SNP	0.034	C	C	136872945	T	C	136872945	3	2	80	1	0	0	0	0	1	0	0	0	4098	1406	49	5	509	5	CXCR4	2	136872945	Missense_Mutation	SNP	T	TCGA-EA-A439-01A-11D-A243-09	29843305	136872945	106326428	17	12314										
TTN	7273	genome.wustl.edu	37	chr2	179469564	179469564	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcaagaggggcatcccatgtCaagtagcaagattcagcttt	10	9	3	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:179469564C>G	ENST00000591111.1	-	231	49553	c.49329G>C	c.(49327-49329)ttG>ttC	p.L16443F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9211F|TTN_ENST00000359218.5_Missense_Mutation_p.L9144F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L18084F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9019F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15516F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16443	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCCATGTCAAGTAGCAAG	0.433																																																	0													131	119	123					2																	179469564		1901	4143	6044	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49329G>C	2.37:g.179469564C>G	ENSP00000465570:p.Leu16443Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L15516F	ENST00000591111.1	37	c.46548		2	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929337	0.18131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.74	2.93	0.34026	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81484	0.4832	M	0.93808	3.46	0.42388	D	0.992518	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81760	-0.0785	9	0.87932	D	0	.	8.5796	0.33621	0.0:0.6169:0.0:0.3831	.	9019;9144;9211;16443	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	15516;9019;9211;9144;9019	ENSP00000343764:L15516F;ENSP00000434586:L9019F;ENSP00000340554:L9211F;ENSP00000352154:L9144F	ENSP00000340554:L9211F	L	-	3	2	TTN	179177809	0.812000	0.29077	0.999000	0.59377	0.928000	0.56348	-0.105000	0.10907	0.421000	0.25980	0.563000	0.77884	TTG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179469564	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.993	G	G	179469564	C	G	179469564	3	3	80	1	0	0	0	0	1	0	0	0	16766	825	29	1	53769	1	TTN	2	179469564	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	42596619	179469564	63729809	18	12315										
TTN	7273	genome.wustl.edu	37	chr2	179489195	179489195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gtaagaagaatacttacgcaCgacattcaggttacaggaag	10	7	1	2	rs367560855		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:179489195C>T	ENST00000591111.1	-	192	40113	c.39889G>A	c.(39889-39891)Gtg>Atg	p.V13297M	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6065M|TTN_ENST00000359218.5_Missense_Mutation_p.V5998M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V14938M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V5873M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12370M			Q8WZ42	TITIN_HUMAN	titin	13297			V -> A. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V12370L(2)|p.V5998L(1)|p.V6065L(1)|p.V5873L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTACGCACGACATTCAGG	0.363																																																	5	Substitution - Missense(5)	lung(5)						C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3746		0,0,1873	123	122	122		17617,37108,17992,18193	3.9	1	2		122	1,8199		0,1,4099	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,1,5972	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	5873/26927,12370/33424,5998/27052,6065/27119	179489195	1,11945	1873	4100	5973	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39889G>A	2.37:g.179489195C>T	ENSP00000465570:p.Val13297Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V12370M	ENST00000591111.1	37	c.37108		2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452556	0.43531	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.72	3.91	0.45181	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.29908	0.895	0.34775	D	0.73411	P;P;P;P	0.52316	0.952;0.952;0.952;0.952	B;B;B;B	0.39660	0.306;0.306;0.306;0.306	T	0.30208	-0.9986	9	0.87932	D	0	.	12.4478	0.55662	0.0:0.863:0.0:0.137	.	5873;5998;6065;13297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	12370;5873;6065;5998;5873	ENSP00000343764:V12370M;ENSP00000434586:V5873M;ENSP00000340554:V6065M;ENSP00000352154:V5998M	ENSP00000340554:V6065M	V	-	1	0	TTN	179197440	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.820000	0.55693	0.748000	0.32831	0.557000	0.71058	GTG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179489195	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179489195	C	T	179489195	3	4	80	1	0	0	0	0	1	0	0	0	16766	536	19	2	63365	2	TTN	2	179489195	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	19631	179489195	63710178	19	12316										
NRP2	8828	genome.wustl.edu	37	chr2	206659477	206659477	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	catgaattttatgtatcgcaGatgaatacgaggtggactgg	12	5	0	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:206659477G>C	ENST00000540841.1	+	16	3216	c.2425G>C	c.(2425-2427)Gat>Cat	p.D809H	NRP2_ENST00000357785.5_Splice_Site|NRP2_ENST00000360409.3_Splice_Site|NRP2_ENST00000412873.2_Splice_Site|NRP2_ENST00000540178.1_Splice_Site			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ATGTATCGCAGATGAATACGA	0.527																																																	0													76	75	75					2																	206659477		2203	4300	6503	SO:0001583	missense	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000540841.1:c.2425G>C	2.37:g.206659477G>C	ENSP00000439261:p.Asp809His		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	-	e17-1	ENST00000540841.1	37	c.2492-1		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.708|7.708	0.694620|0.694620	0.15039|0.15039	.|.	.|.	ENSG00000118257|ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785;ENST00000412873|ENST00000540841	.|D	.|0.88046	.|-2.33	5.93|5.93	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91358	.|0.7274	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91805	.|0.5455	.|6	.|0.59425	.|D	.|0.04	.|.	14.0871|14.0871	0.64964|0.64964	0.0716:0.0:0.9284:0.0|0.0716:0.0:0.9284:0.0	.|.	.|.	.|.	.|.	.|H	-1|809	.|ENSP00000439261:D809H	.|ENSP00000439261:D809H	.|D	+|+	.|1	.|0	NRP2|NRP2	206367722|206367722	1.000000|1.000000	0.71417|0.71417	0.705000|0.705000	0.30386|0.30386	0.029000|0.029000	0.11900|0.11900	6.118000|6.118000	0.71583|0.71583	1.518000|1.518000	0.48934|0.48934	0.655000|0.655000	0.94253|0.94253	.|GAT	NRP2	-	-		0.527	NRP2-203	KNOWN	basic	protein_coding	NRP2	HGNC	protein_coding		G			206659477	1	no_errors	ENST00000360409	ensembl	human	known	70_37	splice_site	SNP	0.999	C	C	206659477	G	C	206659477	3	2	80	1	0	0	0	0	1	0	0	0	10685	956	33	1	2869	1	NRP2	2	206659477	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	27170282	206659477	36539896	20	12317										
ABCA12	26154	genome.wustl.edu	37	chr2	215854146	215854146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ccagccaaatgaggtggtgtCatcctgaaccggggaggtgt	15	9	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:215854146C>T	ENST00000272895.7	-	26	3955	c.3736G>A	c.(3736-3738)Gac>Aac	p.D1246N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D928N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1246					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGTGGTGTCATCCTGAACC	0.423																																					Ovarian(66;664 1488 5121 34295)												0													113	111	112					2																	215854146		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3736G>A	2.37:g.215854146C>T	ENSP00000272895:p.Asp1246Asn		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1246N	ENST00000272895.7	37	c.3736	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.061423	0.93846	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	D	0.89694	0.6789	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.974	D	0.90519	0.4487	10	0.62326	D	0.03	.	19.3349	0.94312	0.0:1.0:0.0:0.0	.	1246;928	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	1246;928	ENSP00000272895:D1246N;ENSP00000374312:D928N	ENSP00000272895:D1246N	D	-	1	0	ABCA12	215562391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.656000	0.90262	0.591000	0.81541	GAC	ABCA12	-	NULL		0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215854146	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215854146	C	T	215854146	3	4	80	1	0	0	0	0	1	0	0	0	30	826	29	1	4163	1	ABCA12	2	215854146	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	9194669	215854146	27345227	21	12318										
COL6A6	131873	genome.wustl.edu	37	chr3	130286029	130286029	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aattgcaggagaggaaaagaGagtgtattacgtgcatgact	13	4	0	3	rs545500523		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:130286029G>C	ENST00000358511.6	+	4	1797	c.1766G>C	c.(1765-1767)aGa>aCa	p.R589T	COL6A6_ENST00000453409.2_Missense_Mutation_p.R589T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	589	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGGAAAAGAGAGTGTATTAC	0.428																																																	0													71	71	71					3																	130286029		1962	4158	6120	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1766G>C	3.37:g.130286029G>C	ENSP00000351310:p.Arg589Thr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R589T	ENST00000358511.6	37	c.1766	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435749	0.43224	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83335	-1.71;-1.71	5.5	3.72	0.42706	von Willebrand factor, type A (3);	0.097898	0.45867	D	0.000336	D	0.84763	0.5544	L	0.58810	1.83	0.09310	N	0.999997	D	0.58268	0.982	P	0.59825	0.864	T	0.73855	-0.3851	10	0.22706	T	0.39	.	8.4655	0.32953	0.2392:0.0:0.7608:0.0	.	589	A6NMZ7	CO6A6_HUMAN	T	589	ENSP00000351310:R589T;ENSP00000399236:R589T	ENSP00000351310:R589T	R	+	2	0	COL6A6	131768719	1.000000	0.71417	0.196000	0.23383	0.653000	0.38743	3.106000	0.50322	0.705000	0.31890	-0.266000	0.10368	AGA	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.428	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	G	NM_001102608		130286029	1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	0.268	C	C	130286029	G	C	130286029	3	2	80	1	0	0	0	0	1	0	0	0	3708	942	33	1	1780	1	COL6A6	3	130286029	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09		130286029	67736401	22	12319										
NLGN1	22871	genome.wustl.edu	37	chr3	173998301	173998301	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	caaccagtccctcaagacacGaaattcattcataccaaacc	3	15	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:173998301G>A	ENST00000457714.1	+	7	2109	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	NLGN1_ENST00000545397.1_Silent_p.T560T|NLGN1_ENST00000361589.4_Silent_p.T560T|NLGN1_ENST00000401917.3_Silent_p.T600T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	577					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.T560T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTCAAGACACGAAATTCATTC	0.338																																																	1	Substitution - coding silent(1)	large_intestine(1)											82	77	78					3																	173998301		2203	4300	6503	SO:0001819	synonymous_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1680G>A	3.37:g.173998301G>A			Q9UPT2	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.T600	ENST00000457714.1	37	c.1800	CCDS3222.1	3																																																																																			NLGN1	-	pfam_CarbesteraseB,prints_Neuroligin		0.338	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	G	NM_014932		173998301	1	no_errors	ENST00000401917	ensembl	human	known	70_37	silent	SNP	0.999	A	A	173998301	G	A	173998301	2	1	80	1	0	0	0	0	0	0	0	1	10485	1045	37	1		1	NLGN1	3	173998301	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	43712272	173998301	24024129	23	12320										
ECE2	9718	genome.wustl.edu	37	chr3	184008096	184008096	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	atgttgaatttgtacaacttCtctgccaaggttatggctga	9	7	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:184008096C>G	ENST00000402825.3	+	14	1959	c.1959C>G	c.(1957-1959)ttC>ttG	p.F653L	ECE2_ENST00000404464.3_Missense_Mutation_p.F535L|ECE2_ENST00000359140.4_Missense_Mutation_p.F506L|ECE2_ENST00000357474.5_Missense_Mutation_p.F581L|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	653	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTACAACTTCTCTGCCAAGG	0.493																																																	0													53	50	51					3																	184008096		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1959C>G	3.37:g.184008096C>G	ENSP00000384223:p.Phe653Leu		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.F653L	ENST00000402825.3	37	c.1959	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968083	0.74131	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.04	1.73	0.24493	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.88842	2.985	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.997;0.951;0.999;0.999;0.997	D	0.90246	0.4290	10	0.59425	D	0.04	-20.2039	10.795	0.46455	0.0:0.7425:0.0:0.2575	.	255;506;524;535;581;506;653	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	L	653;506;535;581;527	ENSP00000384223:F653L;ENSP00000352052:F506L;ENSP00000385846:F535L;ENSP00000350066:F581L;ENSP00000398444:F527L	ENSP00000350066:F581L	F	+	3	2	ECE2	185490790	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.454000	0.44979	0.522000	0.28464	0.448000	0.29417	TTC	ECE2	-	NULL		0.493	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	C	NM_014693		184008096	1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	1.000	G	G	184008096	C	G	184008096	3	3	80	1	0	0	0	0	1	0	0	0	4900	912	32	1	2577	1	ECE2	3	184008096	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	10009795	184008096	14014334	24	12321										
C3orf70	285382	genome.wustl.edu	37	chr3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aaccccgctccgacgccggcGaggccgccgcactcatttcc	10	20	1	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16	17	17					3																	184870595		2196	4292	6488	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	missense	SNP	0.804	A	A	184870595	G	A	184870595	3	1	80	1	0	0	0	0	1	0	0	0	2247	1059	37	1	743	1	C3orf70	3	184870595	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	862499	184870595	13151835	25	12322										
PDE6B	5158	genome.wustl.edu	37	chr4	654372	654372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cagatgtactacgagctgggCgtggtccgaaagttccagat	13	9	0	2	rs145273613		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:654372C>T	ENST00000496514.1	+	12	1605	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.G528G|PDE6B_ENST00000429163.2_Silent_p.G249G			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	528					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACGAGCTGGGCGTGGTCCGAA	0.592													.|||	1	0.000199681	0	0	5008	,	,		20137	0.001		0	False		,,,				2504	0				GBM(71;463 1194 9848 25922 46834)												0								C	,,	1,4405		0,1,2202	74	64	67		1584,1584,747	-4.2	1	4	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1,NM_001145292.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	528/855,528/854,249/576	654372	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1584C>T	4.37:g.654372C>T			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G528	ENST00000496514.1	37	c.1584	CCDS33932.1	4																																																																																			PDE6B	-	NULL		0.592	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	C	NM_000283		654372	1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	0.849	T	T	654372	C	T	654372	2	4	80	1	0	0	0	0	0	0	0	1	11670	755	27	2		2	PDE6B	4	654372	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09		654372	190499904	26	12323										
SLC2A9	56606	genome.wustl.edu	37	chr4	9982227	9982227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cacactcacctttcccagcaGctcgggcaggcccagaagct	9	17	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:9982227G>A	ENST00000264784.3	-	5	723	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	SLC2A9_ENST00000309065.3_Silent_p.L195L|SLC2A9_ENST00000506583.1_Silent_p.L195L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	224					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TTTCCCAGCAGCTCGGGCAGG	0.567																																																	0													62	56	58					4																	9982227		2203	4300	6503	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.670C>T	4.37:g.9982227G>A			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.L224	ENST00000264784.3	37	c.670	CCDS3407.1	4																																																																																			SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.567	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	G			9982227	-1	no_errors	ENST00000264784	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9982227	G	A	9982227	2	1	80	1	0	0	0	0	0	0	0	1	14582	962	34	4		4	SLC2A9	4	9982227	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	9327855	9982227	181172049	27	12324										
SLC2A9	56606	genome.wustl.edu	37	chr4	9987312	9987312	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cctccatctatgcccatgatGaagcgtcccacgatgagcat	8	14	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:9987312G>T	ENST00000264784.3	-	4	569	c.516C>A	c.(514-516)ttC>ttA	p.F172L	SLC2A9_ENST00000309065.3_Missense_Mutation_p.F143L|SLC2A9_ENST00000506583.1_Missense_Mutation_p.F143L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	172					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGCCCATGATGAAGCGTCCCA	0.517																																																	0													78	75	76					4																	9987312		2203	4300	6503	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.516C>A	4.37:g.9987312G>T	ENSP00000264784:p.Phe172Leu		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.F172L	ENST00000264784.3	37	c.516	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250813	0.10130	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.80738	0.23;-1.37;0.23;-1.41	5.47	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.237962	0.42420	N	0.000720	T	0.69646	0.3134	L	0.38953	1.18	0.33159	D	0.546736	B;B	0.26512	0.033;0.151	B;B	0.33690	0.044;0.168	T	0.67749	-0.5590	9	.	.	.	.	5.0251	0.14381	0.1712:0.1833:0.6455:0.0	.	143;172	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	L	143;172;143;143	ENSP00000422209:F143L;ENSP00000264784:F172L;ENSP00000311383:F143L;ENSP00000426800:F143L	.	F	-	3	2	SLC2A9	9596410	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	3.608000	0.54109	1.274000	0.44362	-0.291000	0.09656	TTC	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt		0.517	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	G			9987312	-1	no_errors	ENST00000264784	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9987312	G	T	9987312	3	4	80	1	0	0	0	0	1	0	0	0	14582	1281	45	3	1142	3	SLC2A9	4	9987312	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	5085	9987312	181166964	28	12325										
NFXL1	152518	genome.wustl.edu	37	chr4	47853888	47853888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	attacctcagatgctttccgCttcatttccttgcacgttgt	6	12	2	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:47853888C>T	ENST00000507489.1	-	21	2669	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	NFXL1_ENST00000381538.3_Silent_p.K831K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	831						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATGCTTTCCGCTTCATTTCCT	0.338																																																	0													172	153	159					4																	47853888		2203	4300	6503	SO:0001819	synonymous_variant	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2493G>A	4.37:g.47853888C>T			B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.K831	ENST00000507489.1	37	c.2493	CCDS3478.2	4																																																																																			NFXL1	-	NULL		0.338	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	C	NM_152995		47853888	-1	no_errors	ENST00000381538	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47853888	C	T	47853888	2	4	80	1	0	0	0	0	0	0	0	1	10412	796	28	4		4	NFXL1	4	47853888	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	37866576	47853888	143300388	29	12326										
TET2	54790	genome.wustl.edu	37	chr4	106190797	106190797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aacacagagcaccagagtgcCgtctgggtctgaaggaaggc	14	10	2	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:106190797C>T	ENST00000540549.1	+	9	4935	c.4075C>T	c.(4075-4077)Cgt>Tgt	p.R1359C	TET2_ENST00000380013.4_Missense_Mutation_p.R1359C|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.R1380C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1359					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R1359C(3)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACCAGAGTGCCGTCTGGGTCT	0.453			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											107	93	97					4																	106190797		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4075C>T	4.37:g.106190797C>T	ENSP00000442788:p.Arg1359Cys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.R1359C	ENST00000540549.1	37	c.4075	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691905	0.88735	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.13089	2.62;2.62;2.62	5.87	5.02	0.67125	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.25121	0.0610	M	0.66378	2.025	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.48982	0.597;0.597	T	0.01805	-1.1270	9	0.49607	T	0.09	-4.4379	15.441	0.75181	0.0:0.9328:0.0:0.0672	.	1380;1359	E7EQS8;Q6N021	.;TET2_HUMAN	C	1359;1380;1359	ENSP00000442788:R1359C;ENSP00000425443:R1380C;ENSP00000369351:R1359C	ENSP00000369351:R1359C	R	+	1	0	TET2	106410246	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.945000	0.70226	1.468000	0.48064	0.655000	0.94253	CGT	TET2	-	NULL		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106190797	1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106190797	C	T	106190797	3	4	80	1	0	0	0	0	1	0	0	0	15800	652	23	2	4190	2	TET2	4	106190797	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	58336909	106190797	84963479	30	12327										
TET2	54790	genome.wustl.edu	37	chr4	106196258	106196258	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agtcccagcagccccagcctCtacagaagcagccaccacag	8	18	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:106196258C>G	ENST00000540549.1	+	11	5451	c.4591C>G	c.(4591-4593)Cta>Gta	p.L1531V	TET2_ENST00000380013.4_Missense_Mutation_p.L1531V|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.L1552V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1531	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1531fs*43(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		gccccagcctctacagaagca	0.537			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											48	57	54					4																	106196258		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4591C>G	4.37:g.106196258C>G	ENSP00000442788:p.Leu1531Val		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.L1531V	ENST00000540549.1	37	c.4591	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807169	0.16467	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.22945	1.93;1.93;1.93	4.71	2.74	0.32292	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.19967	0.0480	L	0.43923	1.385	0.09310	N	0.999997	B;B	0.27882	0.192;0.192	B;B	0.29077	0.098;0.098	T	0.24404	-1.0161	9	0.28530	T	0.3	-0.2308	5.9779	0.19391	0.0:0.7014:0.1858:0.1128	.	1552;1531	E7EQS8;Q6N021	.;TET2_HUMAN	V	1531;1552;1531	ENSP00000442788:L1531V;ENSP00000425443:L1552V;ENSP00000369351:L1531V	ENSP00000369351:L1531V	L	+	1	2	TET2	106415707	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-1.108000	0.03313	0.457000	0.26962	0.586000	0.80456	CTA	TET2	-	NULL		0.537	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106196258	1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	0.001	G	G	106196258	C	G	106196258	3	3	80	1	0	0	0	0	1	0	0	0	15800	912	32	1	4714	1	TET2	4	106196258	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	5461	106196258	84958018	31	12328										
FSTL5	56884	genome.wustl.edu	37	chr4	162459336	162459336	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	acgggtctttctagcagagtCttccacaaaaagagaagaga	10	8	3	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:162459336C>T	ENST00000306100.5	-	10	1730	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	432						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTAGCAGAGTCTTCCACAAAA	0.403																																																	0													250	230	236					4																	162459336		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1294G>A	4.37:g.162459336C>T	ENSP00000305334:p.Asp432Asn		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.D432N	ENST00000306100.5	37	c.1294	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.067672	0.93898	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74315	-0.83;-0.81;-0.8;-0.81	5.17	5.17	0.71159	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.982;0.957	D	0.87118	0.2189	10	0.72032	D	0.01	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	431;431;432	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	432;431;431;431	ENSP00000305334:D432N;ENSP00000368462:D431N;ENSP00000389270:D431N;ENSP00000440409:D431N	ENSP00000305334:D432N	D	-	1	0	FSTL5	162678786	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.398000	0.79919	2.545000	0.85829	0.563000	0.77884	GAC	FSTL5	-	NULL		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162459336	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162459336	C	T	162459336	3	4	80	1	0	0	0	0	1	0	0	0	6098	913	32	1	1277	1	FSTL5	4	162459336	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	56263078	162459336	28694940	32	12329										
POLK	51426	genome.wustl.edu	37	chr5	74848348	74848348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aagaaaagcaagtcaaccaaCgaattgaaaatatgatgcaa	7	6	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:74848348C>T	ENST00000241436.4	+	3	359	c.187C>T	c.(187-189)Cga>Tga	p.R63*	POLK_ENST00000515295.1_Nonsense_Mutation_p.R63*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Nonsense_Mutation_p.R63*|POLK_ENST00000380481.3_5'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.R63*|POLK_ENST00000508526.1_Nonsense_Mutation_p.R63*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	63					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTCAACCAACGAATTGAAAA	0.343								DNA polymerases (catalytic subunits)																																									0													89	88	88					5																	74848348		2203	4300	6503	SO:0001587	stop_gained	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.187C>T	5.37:g.74848348C>T	ENSP00000241436:p.Arg63*		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.R63*	ENST00000241436.4	37	c.187	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.014049	0.97200	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526	.	.	.	6.07	4.26	0.50523	.	0.056486	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2262	15.2333	0.73407	0.255:0.745:0.0:0.0	.	.	.	.	X	63	.	ENSP00000241436:R63X	R	+	1	2	POLK	74884104	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	1.213000	0.32407	0.863000	0.35553	0.650000	0.86243	CGA	POLK	-	NULL		0.343	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	C	NM_016218		74848348	1	no_errors	ENST00000241436	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74848348	C	T	74848348	4	4	80	1	0	0	0	0	0	1	0	0	12228	528	19	2	193	2	POLK	5	74848348	Nonsense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		74848348	106066912	33	12330										
AP3B1	8546	genome.wustl.edu	37	chr5	77452106	77452106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	atactgtccaggagtttggcCatatgtttaataatttcacc	7	8	1	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:77452106C>T	ENST00000255194.6	-	14	1624	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	AP3B1_ENST00000519295.1_Missense_Mutation_p.M434I	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	483					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGAGTTTGGCCATATGTTTAA	0.318									Hermansky-Pudlak syndrome																																								0													169	162	164					5																	77452106		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1449G>A	5.37:g.77452106C>T	ENSP00000255194:p.Met483Ile		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.M483I	ENST00000255194.6	37	c.1449	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011792	0.75046	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.28255	1.62;1.62	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.42487	1.325	0.80722	D	1	B	0.32968	0.392	B	0.37989	0.262	T	0.10917	-1.0609	10	0.51188	T	0.08	-23.1334	19.4894	0.95044	0.0:1.0:0.0:0.0	.	483	O00203	AP3B1_HUMAN	I	483;434;483;387	ENSP00000255194:M483I;ENSP00000430597:M434I	ENSP00000255194:M483I	M	-	3	0	AP3B1	77487862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.741000	0.84997	2.676000	0.91093	0.563000	0.77884	ATG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.318	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	C			77452106	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77452106	C	T	77452106	3	4	80	1	0	0	0	0	1	0	0	0	744	594	21	4	1891	4	AP3B1	5	77452106	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	2603758	77452106	103463154	34	12331										
PCDHB11	56125	genome.wustl.edu	37	chr5	140581381	140581381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ccgctccctgaggcggcaccGgcccaggcccaggccgactc	13	20	0	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:140581381G>A	ENST00000354757.3	+	1	2034	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P	PCDHB11_ENST00000536699.1_Silent_p.P313P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	678					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.687																																																	0													60	64	63					5																	140581381		2184	4282	6466	SO:0001819	synonymous_variant	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2034G>A	5.37:g.140581381G>A			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P678	ENST00000354757.3	37	c.2034	CCDS4253.1	5																																																																																			PCDHB11	-	NULL		0.687	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140581381	1	no_errors	ENST00000354757	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140581381	G	A	140581381	2	1	80	1	0	0	0	0	0	0	0	1	11560	1103	39	2		2	PCDHB11	5	140581381	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	63129275	140581381	40333879	35	12332										
FAM71B	153745	genome.wustl.edu	37	chr5	156589475	156589475	+	Frame_Shift_Del	DEL	C	C	-													0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tctttaaatggatttggtttCaaagacgatcatctccgtct							TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:156589475delC	ENST00000302938.4	-	2	1896	c.1801delG	c.(1801-1803)gaafs	p.E601fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	601						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTTGGTTTCAAAGACGATC	0.507																																																	0													151	155	154					5																	156589475		2203	4300	6503	SO:0001589	frameshift_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1801delG	5.37:g.156589475delC	ENSP00000305596:p.Glu601fs		Q1EDD9|Q8TC64|Q96LY8	Frame_Shift_Del	DEL	pfam_DUF3699	p.E601fs	ENST00000302938.4	37	c.1801	CCDS4335.1	5																																																																																			FAM71B	-	NULL		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	C	NM_130899		156589475	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	frame_shift_del	DEL	0.998	-	-	156589475	C	-	156589475	7	5	80	1	0	1	0	1	0	0	0	0	5626	835	29	0	20	0	FAM71B	5	156589475	Frame_Shift_Del	DEL	C	TCGA-EA-A439-01A-11D-A243-09	16008094	156589475	24325785	36	12333										
FAM71B	153745	genome.wustl.edu	37	chr5	156589551	156589551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcctggccaccctgggctttCtccactttggcctctatgtt	8	15	2	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:156589551C>G	ENST00000302938.4	-	2	1820	c.1725G>C	c.(1723-1725)gaG>gaC	p.E575D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	575						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGGGCTTTCTCCACTTTGG	0.488																																																	0													277	273	274					5																	156589551		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1725G>C	5.37:g.156589551C>G	ENSP00000305596:p.Glu575Asp		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.E575D	ENST00000302938.4	37	c.1725	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724192	0.89298	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	3.87	3.87	0.44632	.	0.000000	0.41712	D	0.000836	T	0.44787	0.1310	M	0.77103	2.36	0.31478	N	0.667572	D	0.76494	0.999	D	0.80764	0.994	T	0.52931	-0.8509	10	0.72032	D	0.01	-36.1714	11.6268	0.51151	0.0:1.0:0.0:0.0	.	575	Q8TC56	FA71B_HUMAN	D	575	ENSP00000305596:E575D	ENSP00000305596:E575D	E	-	3	2	FAM71B	156522129	0.970000	0.33590	0.987000	0.45799	0.718000	0.41266	0.584000	0.23864	2.440000	0.82611	0.655000	0.94253	GAG	FAM71B	-	NULL		0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	C	NM_130899		156589551	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	missense	SNP	0.991	G	G	156589551	C	G	156589551	3	3	80	1	0	0	0	0	1	0	0	0	5626	912	32	1	96	1	FAM71B	5	156589551	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	76	156589551	24325709	37	12334										
CANX	821	genome.wustl.edu	37	chr5	179151711	179151711	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gatgcacctcaaccggatgtGaaggaagaggaagaagagaa	14	6	1	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:179151711G>A	ENST00000247461.4	+	13	1772	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	CANX_ENST00000504734.1_Silent_p.V524V|CANX_ENST00000415618.2_Silent_p.V559V|CANX_ENST00000452673.2_Silent_p.V524V|CANX_ENST00000512607.2_Silent_p.V416V	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	524	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AACCGGATGTGAaggaagagg	0.413																																																	0													110	106	107					5																	179151711		2203	4300	6503	SO:0001819	synonymous_variant	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1572G>A	5.37:g.179151711G>A			B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.V559	ENST00000247461.4	37	c.1677	CCDS4447.1	5																																																																																			CANX	-	NULL		0.413	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649		179151711	1	no_errors	ENST00000415618	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179151711	G	A	179151711	2	1	80	1	0	0	0	0	0	0	0	1	2623	1277	45	1		1	CANX	5	179151711	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	22562160	179151711	1763549	38	12335										
HIST1H3I	8354	genome.wustl.edu	37	chr6	27839983	27839983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gggcggtagcggtggggcttCttgacgccaccggtggccgg	20	11	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:27839983C>G	ENST00000328488.2	-	1	116	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGTGGGGCTTCTTGACGCCAC	0.672																																																	0													36	41	39					6																	27839983		2202	4298	6500	SO:0001583	missense	8354			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.111G>C	6.37:g.27839983C>G	ENSP00000329554:p.Lys37Asn		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.K37N	ENST00000328488.2	37	c.111	CCDS4636.1	6	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773807	0.31411	.	.	ENSG00000182572	ENST00000328488	T	0.56103	0.48	4.12	3.26	0.37387	.	.	.	.	.	T	0.52853	0.1760	.	.	.	0.37317	D	0.909381	.	.	.	.	.	.	T	0.60919	-0.7167	6	0.87932	D	0	.	12.133	0.53955	0.0:0.9147:0.0:0.0853	.	.	.	.	N	37	ENSP00000329554:K37N	ENSP00000329554:K37N	K	-	3	2	HIST1H3I	27947962	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	2.989000	0.49393	1.325000	0.45301	-0.143000	0.13931	AAG	HIST1H3I	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.672	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3I	HGNC	protein_coding	OTTHUMT00000043452.1	C	NM_003533		27839983	-1	no_errors	ENST00000328488	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27839983	C	G	27839983	3	3	80	1	0	0	0	0	1	0	0	0	7183	912	32	1	303	1	HIST1H3I	6	27839983	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		27839983	143275084	39	12336										
RDBP	7936	genome.wustl.edu	37	chr6	31922450	31922450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tctctgtctctgtctcgatcCcggtctcgatcccgctcccg	8	18	4	0	rs377559803|rs556062290|rs267600969	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:31922450C>T	ENST00000375429.3	-	7	850	c.624G>A	c.(622-624)cgG>cgA	p.R208R	NELFE_ENST00000444811.2_Silent_p.R178R|NELFE_ENST00000375425.5_Silent_p.R215R|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	208	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R208_D211delRDRD(1)									tgtctcgatcccggtctcgat	0.672													C|||	8	0.00159744	0	0.0058	5008	,	,		18055	0		0	False		,,,				2504	0.0041																1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											38	36	37					6																	31922450		2203	4300	6503	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.624G>A	6.37:g.31922450C>T			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R208	ENST00000375429.3	37	c.624	CCDS4730.1	6																																																																																			RDBP	-	NULL		0.672	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	C			31922450	-1	no_errors	ENST00000375429	ensembl	human	known	70_37	silent	SNP	0.004	T	T	31922450	C	T	31922450	2	4	80	1	0	0	0	0	0	0	0	1	13218	610	22	4		4	RDBP	6	31922450	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	4082467	31922450	139192617	40	12337										
TNXB	7148	genome.wustl.edu	37	chr6	32049228	32049228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcttatacttccggtcgggaTccaggccggggacagtaacc	12	12	1	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:32049228T>C	ENST00000375244.3	-	10	4160	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Missense_Mutation_p.D1320G			P22105	TENX_HUMAN	tenascin XB	1407	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGGTCGGGATCCAGGCCGGG	0.607																																																	0													37	44	42					6																	32049228		2100	4221	6321	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3959A>G	6.37:g.32049228T>C	ENSP00000364393:p.Asp1320Gly		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D1320G	ENST00000375244.3	37	c.3959		6	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281988	0.40394	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	5.55	4.4	0.53042	.	0.754341	0.11281	N	0.580281	T	0.28599	0.0708	L	0.48642	1.525	0.09310	N	1	B	0.25206	0.12	B	0.37550	0.253	T	0.42344	-0.9457	10	0.21540	T	0.41	.	7.0143	0.24879	0.0:0.1762:0.0:0.8238	.	1320	P22105-3	.	G	1320	ENSP00000364393:D1320G;ENSP00000364396:D1320G	ENSP00000364393:D1320G	D	-	2	0	TNXB	32157206	0.121000	0.22262	0.690000	0.30148	0.730000	0.41778	1.308000	0.33528	0.950000	0.37743	0.334000	0.21626	GAT	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	T	NM_019105		32049228	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.344	C	C	32049228	T	C	32049228	3	2	80	1	0	0	0	0	1	0	0	0	16376	1435	50	5	10894	5	TNXB	6	32049228	Missense_Mutation	SNP	T	TCGA-EA-A439-01A-11D-A243-09	126778	32049228	139065839	41	12338										
ZBTB2	57621	genome.wustl.edu	37	chr6	151687599	151687599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aaacaagttctggagacagcGaggtctgcagggggtctgag	16	7	3	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:151687599G>A	ENST00000325144.4	-	3	742	c.602C>T	c.(601-603)tCg>tTg	p.S201L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGGAGACAGCGAGGTCTGCAG	0.592																																																	0													82	82	82					6																	151687599		2203	4300	6503	SO:0001583	missense	57621			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.602C>T	6.37:g.151687599G>A	ENSP00000323183:p.Ser201Leu		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S201L	ENST00000325144.4	37	c.602	CCDS5231.1	6	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369090	0.42003	.	.	ENSG00000181472	ENST00000325144	T	0.05319	3.46	5.35	5.35	0.76521	.	0.269718	0.37809	N	0.001939	T	0.02267	0.0070	N	0.24115	0.695	0.58432	D	0.999999	P	0.47545	0.897	B	0.32342	0.144	T	0.55630	-0.8111	10	0.46703	T	0.11	-21.0733	19.0868	0.93206	0.0:0.0:1.0:0.0	.	201	Q8N680	ZBTB2_HUMAN	L	201	ENSP00000323183:S201L	ENSP00000323183:S201L	S	-	2	0	ZBTB2	151729292	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	7.279000	0.78599	2.503000	0.84419	0.561000	0.74099	TCG	ZBTB2	-	NULL		0.592	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	HGNC	protein_coding	OTTHUMT00000042715.1	G	NM_020861		151687599	-1	no_errors	ENST00000325144	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151687599	G	A	151687599	3	1	80	1	0	0	0	0	1	0	0	0	17558	1059	37	1	946	1	ZBTB2	6	151687599	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	119638371	151687599	19427468	42	12339										
TNRC18	84629	genome.wustl.edu	37	chr7	5410712	5410712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ggcgactccagaggcggcagCtctgtggggccctcgtccat	15	14	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:5410712C>A	ENST00000430969.1	-	11	3861	c.3513G>T	c.(3511-3513)gaG>gaT	p.E1171D	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1171D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1171	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GAGGCGGCAGCTCTGTGGGGC	0.701																																																	0													16	21	19					7																	5410712		2055	4173	6228	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3513G>T	7.37:g.5410712C>A	ENSP00000395538:p.Glu1171Asp		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1171D	ENST00000430969.1	37	c.3513	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	C	2.646	-0.283141	0.05642	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12672	2.66;2.66	4.87	3.0	0.34707	.	0.176869	0.27336	N	0.019836	T	0.14442	0.0349	M	0.70275	2.135	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26950	-1.0088	10	0.33940	T	0.23	.	6.1448	0.20278	0.1053:0.6381:0.1134:0.1432	.	1171	O15417	TNC18_HUMAN	D	1171;1171;226;226	ENSP00000382452:E1171D;ENSP00000395538:E1171D	ENSP00000330383:E226D	E	-	3	2	TNRC18	5377238	0.817000	0.29147	0.849000	0.33467	0.219000	0.24729	0.061000	0.14366	0.105000	0.17753	-1.598000	0.00824	GAG	TNRC18	-	NULL		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5410712	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.025	A	A	5410712	C	A	5410712	3	1	80	1	0	0	0	0	1	0	0	0	16369	796	28	4	5473	4	TNRC18	7	5410712	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		5410712	153727951	43	12340										
NXPH1	30010	genome.wustl.edu	37	chr7	8475386	8475386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgcttttcctcctgcagcccAccgtctacttggtaagtctt	7	14	2	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:8475386A>G	ENST00000405863.1	+	2	954	c.43A>G	c.(43-45)Acc>Gcc	p.T15A	NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	15						extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCTGCAGCCCACCGTCTACTT	0.572																																																	0													116	125	122					7																	8475386		2016	4183	6199	SO:0001583	missense	30010			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.43A>G	7.37:g.8475386A>G	ENSP00000384551:p.Thr15Ala		Q8NB31	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.T15A	ENST00000405863.1	37	c.43	CCDS47540.1	7	.	.	.	.	.	.	.	.	.	.	A	7.233	0.599680	0.13939	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	T	0.34424	0.0897	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	8	0.11485	T	0.65	2.2645	13.296	0.60296	1.0:0.0:0.0:0.0	.	15	P58417	NXPH1_HUMAN	A	15	.	ENSP00000384551:T15A	T	+	1	0	NXPH1	8441911	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.633000	0.54295	1.998000	0.58463	0.460000	0.39030	ACC	NXPH1	-	pirsf_Neurexophilin		0.572	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH1	HGNC	protein_coding	OTTHUMT00000324591.1	A	NM_152745		8475386	1	no_errors	ENST00000405863	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8475386	A	G	8475386	3	3	80	1	0	0	0	0	1	0	0	0	10814	159	6	5	45	5	NXPH1	7	8475386	Missense_Mutation	SNP	A	TCGA-EA-A439-01A-11D-A243-09	3064674	8475386	150663277	44	12341										
HECW1	23072	genome.wustl.edu	37	chr7	43484129	43484129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aaaggacatccagcctgcccCcagtgcagaagagctggccg	12	14	0	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:43484129C>T	ENST00000395891.2	+	11	1963	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	HECW1_ENST00000453890.1_Missense_Mutation_p.P453L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGCCTGCCCCCAGTGCAGAA	0.652																																																	0													15	19	17					7																	43484129		2097	4228	6325	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1358C>T	7.37:g.43484129C>T	ENSP00000379228:p.Pro453Leu		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.P453L	ENST00000395891.2	37	c.1358	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346893	0.41599	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.27890	1.64;1.64	5.31	-3.45	0.04781	.	9.951510	0.00166	N	0.000000	T	0.09774	0.0240	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13176	-1.0519	10	0.27082	T	0.32	.	3.8729	0.09044	0.0991:0.3713:0.1009:0.4287	.	453;453	B4DH42;Q76N89	.;HECW1_HUMAN	L	453	ENSP00000379228:P453L;ENSP00000407774:P453L	ENSP00000265522:P453L	P	+	2	0	HECW1	43450654	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	0.080000	0.14802	-0.847000	0.04168	-0.216000	0.12614	CCC	HECW1	-	NULL		0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43484129	1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43484129	C	T	43484129	3	4	80	1	0	0	0	0	1	0	0	0	7062	623	22	4	1392	4	HECW1	7	43484129	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	35008743	43484129	115654534	45	12342										
LEP	3952	genome.wustl.edu	37	chr7	127894739	127894739	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aagcttcaggctactccacaGaggtggtggccctgagcagg	14	11	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:127894739G>A	ENST00000308868.4	+	3	478	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	143					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						CTACTCCACAGAGGTGGTGGC	0.637																																																	0													28	29	29					7																	127894739		2203	4300	6503	SO:0001583	missense	3952				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"leptin (murine obesity homolog)", "leptin (obesity homolog, mouse)"	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.427G>A	7.37:g.127894739G>A	ENSP00000312652:p.Glu143Lys		O15158|Q56A88	Missense_Mutation	SNP	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin	p.E143K	ENST00000308868.4	37	c.427	CCDS5800.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229528	0.79688	.	.	ENSG00000174697	ENST00000308868	T	0.75477	-0.94	5.76	4.88	0.63580	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.099589	0.44483	N	0.000453	D	0.84211	0.5422	M	0.76002	2.32	0.40067	D	0.975967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85654	0.1284	10	0.62326	D	0.03	-11.7332	10.6289	0.45523	0.0883:0.0:0.9117:0.0	.	143;143	A4D0Y8;P41159	.;LEP_HUMAN	K	143	ENSP00000312652:E143K	ENSP00000312652:E143K	E	+	1	0	LEP	127681975	1.000000	0.71417	0.887000	0.34795	0.806000	0.45545	5.093000	0.64517	1.431000	0.47355	0.655000	0.94253	GAG	LEP	-	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin		0.637	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEP	HGNC	protein_coding	OTTHUMT00000349174.1	G			127894739	1	no_errors	ENST00000308868	ensembl	human	known	70_37	missense	SNP	0.951	A	A	127894739	G	A	127894739	3	1	80	1	0	0	0	0	1	0	0	0	8747	943	33	1	433	1	LEP	7	127894739	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	84410610	127894739	31243924	46	12343										
CALD1	800	genome.wustl.edu	37	chr7	134618683	134618683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	taaggtagaagagcagaaacGtaacaagcagctagaagaga	12	5	0	5			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:134618683G>A	ENST00000361675.2	+	5	1392	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H	CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	388					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGCAGAAACGTAACAAGCAG	0.448																																																	0													131	141	138					7																	134618683		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1163G>A	7.37:g.134618683G>A	ENSP00000354826:p.Arg388His		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.R388H	ENST00000361675.2	37	c.1163	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480207	0.26598	.	.	ENSG00000122786	ENST00000361675	T	0.31769	1.48	4.9	-9.79	0.00494	.	1.201870	0.06505	N	0.737000	T	0.12561	0.0305	N	0.08118	0	0.09310	N	0.999999	P	0.37708	0.606	B	0.29785	0.107	T	0.22138	-1.0225	9	.	.	.	4.346	17.0358	0.86474	0.0668:0.0:0.1009:0.8323	.	388	Q05682	CALD1_HUMAN	H	388	ENSP00000354826:R388H	.	R	+	2	0	CALD1	134269223	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-1.365000	0.02587	-2.504000	0.00508	-0.457000	0.05445	CGT	CALD1	-	pfam_Caldesmon_LSP		0.448	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	G	NM_033138		134618683	1	no_errors	ENST00000361675	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	134618683	G	A	134618683	3	1	80	1	0	0	0	0	1	0	0	0	2586	1145	40	2	1230	2	CALD1	7	134618683	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	6723944	134618683	24519980	47	12344										
MGAM	8972	genome.wustl.edu	37	chr7	141764242	141764242	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctttgtatggagagtcagcaGatcctcccagacggctccct	10	13	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:141764242G>C	ENST00000549489.2	+	37	4499	c.4404G>C	c.(4402-4404)caG>caC	p.Q1468H	MGAM_ENST00000475668.2_Missense_Mutation_p.Q1468H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1468	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGTCAGCAGATCCTCCCAG	0.577																																																	0													33	36	35					7																	141764242		1990	4177	6167	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4404G>C	7.37:g.141764242G>C	ENSP00000447378:p.Gln1468His		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Q1468H	ENST00000549489.2	37	c.4404	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972722	0.34848	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91237	-2.81	4.22	2.3	0.28687	Glycoside hydrolase, superfamily (1);	.	.	.	.	T	0.79969	0.4538	N	0.17564	0.495	0.33452	D	0.583839	P	0.34629	0.46	B	0.34536	0.185	T	0.77606	-0.2525	9	0.33141	T	0.24	.	5.5561	0.17117	0.1892:0.1718:0.6389:0.0	.	1468	O43451	MGA_HUMAN	H	1468;1468;1345	ENSP00000447378:Q1468H	ENSP00000316431:Q1345H	Q	+	3	2	MGAM	141410711	0.996000	0.38824	0.991000	0.47740	0.307000	0.27823	1.803000	0.38863	0.712000	0.32039	0.306000	0.20318	CAG	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.577	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141764242	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.970	C	C	141764242	G	C	141764242	3	2	80	1	0	0	0	0	1	0	0	0	9564	933	33	1	4546	1	MGAM	7	141764242	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	7145559	141764242	17374421	48	12345										
RAB2A	5862	genome.wustl.edu	37	chr8	61504434	61504434	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tagtgatttagaatctagaaGagaagtaaaaaaagaagaag	10	1	1	6			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:61504434G>A	ENST00000262646.7	+	6	731	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Missense_Mutation_p.R103K	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	127					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GAATCTAGAAGAGAAGTAAAA	0.373																																																	0													92	97	95					8																	61504434		2203	4300	6503	SO:0001583	missense	5862				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.380G>A	8.37:g.61504434G>A	ENSP00000262646:p.Arg127Lys		B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R127K	ENST00000262646.7	37	c.380	CCDS6175.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.589289	0.96590	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000543829	T;T	0.78924	-1.22;-1.22	5.48	5.48	0.80851	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.985;0.957	D	0.88950	0.3386	10	0.87932	D	0	.	19.7205	0.96142	0.0:0.0:1.0:0.0	.	103;127	B4DMQ5;P61019	.;RAB2A_HUMAN	K	127;103;81	ENSP00000262646:R127K;ENSP00000431846:R103K	ENSP00000262646:R127K	R	+	2	0	RAB2A	61666988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.791000	0.99081	2.723000	0.93209	0.585000	0.79938	AGA	RAB2A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.373	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	G			61504434	1	no_errors	ENST00000262646	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61504434	G	A	61504434	3	1	80	1	0	0	0	0	1	0	0	0	12947	942	33	1	402	1	RAB2A	8	61504434	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09		61504434	84859588	49	12346										
KCNK9	51305	genome.wustl.edu	37	chr8	140630753	140630753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gagcacacagactgcaggtcCgggacgtccgccttgtacct	12	14	0	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:140630753C>T	ENST00000520439.1	-	2	936	c.873G>A	c.(871-873)ccG>ccA	p.P291P	KCNK9_ENST00000303015.1_Silent_p.P291P|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	291					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	ACTGCAGGTCCGGGACGTCCG	0.667																																																	0													51	56	55					8																	140630753		2203	4300	6503	SO:0001819	synonymous_variant	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.873G>A	8.37:g.140630753C>T			Q2M290|Q540F2	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.P291	ENST00000520439.1	37	c.873	CCDS6377.1	8																																																																																			KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK		0.667	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	C	NM_016601		140630753	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	silent	SNP	0.066	T	T	140630753	C	T	140630753	2	4	80	1	0	0	0	0	0	0	0	1	8092	639	23	2		2	KCNK9	8	140630753	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	79126319	140630753	5733269	50	12347										
PLEC	5339	genome.wustl.edu	37	chr8	144997455	144997455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cgtgcggcctccgtggcctcCgccttcagccgctgcagctc	12	19	1	0	rs559736151		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:144997455C>T	ENST00000322810.4	-	31	7222	c.7053G>A	c.(7051-7053)gcG>gcA	p.A2351A	PLEC_ENST00000436759.2_Silent_p.A2241A|PLEC_ENST00000356346.3_Silent_p.A2200A|PLEC_ENST00000398774.2_Silent_p.A2182A|PLEC_ENST00000354958.2_Silent_p.A2192A|PLEC_ENST00000345136.3_Silent_p.A2214A|PLEC_ENST00000527096.1_Silent_p.A2237A|PLEC_ENST00000357649.2_Silent_p.A2218A|PLEC_ENST00000354589.3_Silent_p.A2214A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2351	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGTGGCCTCCGCCTTCAGCC	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		13686	0		0	False		,,,				2504	0																0													14	15	15					8																	144997455		2118	4221	6339	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7053G>A	8.37:g.144997455C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A2351	ENST00000322810.4	37	c.7053	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997455	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.007	T	T	144997455	C	T	144997455	2	4	80	1	0	0	0	0	0	0	0	1	12076	639	23	2		2	PLEC	8	144997455	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	4366702	144997455	1366567	51	12348										
FOXD4	2298	genome.wustl.edu	37	chr9	117889	117889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gtgccaaactctgaggggtcGctcgggccgccgccgccctc	14	17	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:117889G>A	ENST00000382500.2	-	1	528	c.231C>T	c.(229-231)agC>agT	p.S77S		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGAGGGGTCGCTCGGGCCGC	0.706																																																	0													38	63	55					9																	117889		2192	4290	6482	SO:0001819	synonymous_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.231C>T	9.37:g.117889G>A			B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S77	ENST00000382500.2	37	c.231	CCDS34975.1	9																																																																																			FOXD4	-	NULL		0.706	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	G	NM_207305		117889	-1	no_errors	ENST00000382500	ensembl	human	known	70_37	silent	SNP	0.002	A	A	117889	G	A	117889	2	1	80	1	0	0	0	0	0	0	0	1	6017	1078	38	2		2	FOXD4	9	117889	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09		117889	141095542	52	12349										
FAM120A	23196	genome.wustl.edu	37	chr9	96320130	96320130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctgatcaggctgccaaggtaGagaagatgcgccagagcgtc	14	10	1	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:96320130G>C	ENST00000277165.6	+	14	2700	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q	FAM120A_ENST00000333936.5_Missense_Mutation_p.E864Q|FAM120A_ENST00000340893.4_Missense_Mutation_p.E836Q	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	836	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCAAGGTAGAGAAGATGCG	0.547																																																	0													60	55	56					9																	96320130		2203	4300	6503	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2506G>C	9.37:g.96320130G>C	ENSP00000277165:p.Glu836Gln		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.E864Q	ENST00000277165.6	37	c.2590	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536093	0.85812	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.58358	0.79;0.84;0.72;0.34	5.85	4.93	0.64822	.	0.081591	0.50627	D	0.000105	T	0.65207	0.2669	L	0.42744	1.35	0.53005	D	0.999967	D;P;D	0.71674	0.998;0.862;0.957	D;P;P	0.68353	0.957;0.69;0.871	T	0.68891	-0.5289	10	0.87932	D	0	-17.9443	15.9749	0.80054	0.0:0.0:0.8641:0.1358	.	836;864;836	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	Q	836;864;836;258	ENSP00000277165:E836Q;ENSP00000334918:E864Q;ENSP00000344698:E836Q;ENSP00000412440:E258Q	ENSP00000277165:E836Q	E	+	1	0	FAM120A	95359951	1.000000	0.71417	0.712000	0.30502	0.989000	0.77384	9.675000	0.98638	1.405000	0.46838	0.655000	0.94253	GAG	FAM120A	-	NULL		0.547	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	G	NM_014612		96320130	1	no_errors	ENST00000333936	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96320130	G	C	96320130	3	2	80	1	0	0	0	0	1	0	0	0	5430	943	33	1	2560	1	FAM120A	9	96320130	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	96202241	96320130	44893301	53	12350										
KIAA0368	23392	genome.wustl.edu	37	chr9	114140944	114140944	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gactctagcagagctggaatGagttttggtgcatgcggttt	14	6	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:114140944G>C	ENST00000338205.5	-	35	4089	c.3870C>G	c.(3868-3870)ctC>ctG	p.L1290L	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Silent_p.L1468L			Q5VYK3	ECM29_HUMAN	KIAA0368	1296					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAGCTGGAATGAGTTTTGGTG	0.468																																																	0													109	107	108					9																	114140944		1922	4122	6044	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3870C>G	9.37:g.114140944G>C			O15074|Q8WU82	Silent	SNP	superfamily_ARM-type_fold	p.L1468	ENST00000338205.5	37	c.4404		9																																																																																			KIAA0368	-	superfamily_ARM-type_fold		0.468	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	G	NM_014686		114140944	-1	no_errors	ENST00000259335	ensembl	human	known	70_37	silent	SNP	0.997	C	C	114140944	G	C	114140944	2	2	80	1	0	0	0	0	0	0	0	1	8191	1277	45	1		1	KIAA0368	9	114140944	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	17820814	114140944	27072487	54	12351										
ZMYND11	10771	genome.wustl.edu	37	chr10	286010	286010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ttacagcagacagtgagcaaGctgacattgcgaggatgcta	12	8	0	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:286010G>T	ENST00000397962.3	+	8	1140	c.712G>T	c.(712-714)Gct>Tct	p.A238S	ZMYND11_ENST00000381591.1_Missense_Mutation_p.A238S|ZMYND11_ENST00000309776.4_Missense_Mutation_p.A198S|ZMYND11_ENST00000403354.1_Missense_Mutation_p.A184S|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A207S|ZMYND11_ENST00000602682.1_Missense_Mutation_p.A153S|ZMYND11_ENST00000545619.1_Missense_Mutation_p.A144S|ZMYND11_ENST00000381602.4_Missense_Mutation_p.A198S|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A153S|ZMYND11_ENST00000558098.2_Missense_Mutation_p.A238S|ZMYND11_ENST00000381584.1_Missense_Mutation_p.A221S|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A237S|ZMYND11_ENST00000381607.4_Missense_Mutation_p.A144S|ZMYND11_ENST00000381604.4_Missense_Mutation_p.A198S|ZMYND11_ENST00000535374.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	238	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGTGAGCAAGCTGACATTGC	0.323																																																	0													106	113	110					10																	286010		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.712G>T	10.37:g.286010G>T	ENSP00000381053:p.Ala238Ser		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A238S	ENST00000397962.3	37	c.712	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228105	0.79576	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619	T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.58	5.58	0.84498	.	0.056481	0.64402	D	0.000001	T	0.38081	0.1027	L	0.41824	1.3	0.34979	D	0.753911	P;B;B;P;B;P;P;P;P	0.49358	0.923;0.007;0.022;0.698;0.409;0.515;0.454;0.454;0.698	P;B;B;B;B;B;B;B;B	0.51550	0.673;0.029;0.046;0.438;0.298;0.356;0.266;0.266;0.438	T	0.09487	-1.0672	9	0.27785	T	0.31	-13.8691	17.7538	0.88442	0.0:0.0:1.0:0.0	.	238;153;183;238;184;167;184;184;207	Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.;.;.	S	238;198;198;238;153;238;184;144;207;198;221;144	ENSP00000381053:A238S;ENSP00000309992:A198S;ENSP00000371015:A198S;ENSP00000381050:A153S;ENSP00000371003:A238S;ENSP00000385484:A184S;ENSP00000371020:A144S;ENSP00000386010:A207S;ENSP00000371017:A198S;ENSP00000370996:A221S;ENSP00000438461:A144S	ENSP00000309992:A198S	A	+	1	0	ZMYND11	276010	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	6.698000	0.74608	2.618000	0.88619	0.563000	0.77884	GCT	ZMYND11	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.323	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	G	NM_006624		286010	1	no_errors	ENST00000381591	ensembl	human	known	70_37	missense	SNP	1.000	T	T	286010	G	T	286010	3	4	80	1	0	0	0	0	1	0	0	0	17736	971	34	4	738	4	ZMYND11	10	286010	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09		286010	135248737	55	12352										
CELF2	10659	genome.wustl.edu	37	chr10	11299828	11299828	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctccggggacctgatgggctGagtcgaggtgagtgtgctgt	18	8	0	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:11299828G>C	ENST00000379261.4	+	5	602	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CELF2_ENST00000537122.1_Silent_p.L59L|CELF2_ENST00000315874.4_Silent_p.L146L|CELF2_ENST00000354440.2_Silent_p.L146L|CELF2_ENST00000417956.2_Silent_p.L146L|CELF2_ENST00000542579.1_Silent_p.L177L|CELF2_ENST00000608830.1_Silent_p.L146L|CELF2_ENST00000609692.1_Silent_p.L146L|CELF2_ENST00000427450.1_Silent_p.L146L|CELF2_ENST00000399850.3_Silent_p.L146L|CELF2_ENST00000416382.2_Silent_p.L170L|CELF2_ENST00000354897.3_Silent_p.L146L|CELF2_ENST00000450189.1_Silent_p.L177L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	170	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTGATGGGCTGAGTCGAGGTG	0.522																																																	0													80	85	84					10																	11299828		2083	4239	6322	SO:0001819	synonymous_variant	10659			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.510G>C	10.37:g.11299828G>C			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.L177	ENST00000379261.4	37	c.531	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.522	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		G			11299828	1	no_errors	ENST00000450189	ensembl	human	known	70_37	silent	SNP	1.000	C	C	11299828	G	C	11299828	2	2	80	1	0	0	0	0	0	0	0	1	3221	1277	45	1		1	CELF2	10	11299828	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	11013818	11299828	124234919	56	12353										
CUBN	8029	genome.wustl.edu	37	chr10	17113832	17113832	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	atatgtttccttaccgacttGataaacagctctgaaactag	6	9	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:17113832G>C	ENST00000377833.4	-	18	2505	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	814	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACCGACTTGATAAACAGCT	0.299																																																	0													61	62	62					10																	17113832		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2440C>G	10.37:g.17113832G>C	ENSP00000367064:p.Gln814Glu		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Q814E	ENST00000377833.4	37	c.2440	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	6.519	0.464073	0.12402	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.31	5.31	0.75309	CUB (4);	0.000000	0.37761	N	0.001945	T	0.19604	0.0471	L	0.28504	0.86	0.80722	D	1	B	0.31837	0.342	B	0.24974	0.057	T	0.03840	-1.0999	10	0.06494	T	0.89	.	15.4062	0.74881	0.0:0.1395:0.8605:0.0	.	814	O60494	CUBN_HUMAN	E	814	ENSP00000367064:Q814E	ENSP00000367064:Q814E	Q	-	1	0	CUBN	17153838	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.047000	0.41269	2.499000	0.84300	0.454000	0.30748	CAA	CUBN	-	superfamily_CUB,smart_CUB,pfscan_CUB		0.299	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		17113832	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17113832	G	C	17113832	3	2	80	1	0	0	0	0	1	0	0	0	4056	1299	45	1	8631	1	CUBN	10	17113832	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	5814004	17113832	118420915	57	12354										
CUEDC2	79004	genome.wustl.edu	37	chr10	104184033	104184033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	accagtacctcatcttgggtGtctgcagcagcagcagccga	11	13	3	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:104184033G>T	ENST00000369937.4	-	5	544	c.399C>A	c.(397-399)gaC>gaA	p.D133E	CUEDC2_ENST00000465409.1_5'UTR|PSD_ENST00000492902.2_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	133						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATCTTGGGTGTCTGCAGCAG	0.582																																																	0													61	65	64					10																	104184033		1897	4096	5993	SO:0001583	missense	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.399C>A	10.37:g.104184033G>T	ENSP00000358953:p.Asp133Glu		D3DR88|Q9BWG8	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,pfscan_CUE	p.D133E	ENST00000369937.4	37	c.399	CCDS41566.1	10	.	.	.	.	.	.	.	.	.	.	G	0.127	-1.117949	0.01785	.	.	ENSG00000107874	ENST00000369937	D	0.87334	-2.24	4.5	-4.86	0.03132	.	0.769713	0.12697	N	0.446636	T	0.65080	0.2657	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52396	-0.8581	10	0.42905	T	0.14	-2.447	1.2007	0.01884	0.3831:0.2641:0.219:0.1339	.	133	Q9H467	CUED2_HUMAN	E	133	ENSP00000358953:D133E	ENSP00000358953:D133E	D	-	3	2	CUEDC2	104174023	0.041000	0.20044	0.121000	0.21740	0.470000	0.32858	0.177000	0.16801	-0.673000	0.05259	0.561000	0.74099	GAC	CUEDC2	-	superfamily_UBA-like		0.582	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC2	HGNC	protein_coding	OTTHUMT00000050060.1	G	NM_024040		104184033	-1	no_errors	ENST00000369937	ensembl	human	known	70_37	missense	SNP	0.003	T	T	104184033	G	T	104184033	3	4	80	1	0	0	0	0	1	0	0	0	4058	1368	48	4	484	4	CUEDC2	10	104184033	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	87070201	104184033	31350714	58	12355										
SMC3	9126	genome.wustl.edu	37	chr10	112343217	112343217	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aaaaagaacagcttagtgctGaaagacaagagcagattaag	10	5	0	5			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:112343217G>A	ENST00000361804.4	+	11	1006	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	294					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCTTAGTGCTGAAAGACAAGA	0.343																																																	0													86	85	85					10																	112343217		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.880G>A	10.37:g.112343217G>A	ENSP00000354720:p.Glu294Lys		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E294K	ENST00000361804.4	37	c.880	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955131	0.73902	.	.	ENSG00000108055	ENST00000361804	T	0.78003	-1.14	5.68	5.68	0.88126	RecF/RecN/SMC (1);	0.100019	0.64402	D	0.000003	T	0.81128	0.4758	M	0.62723	1.935	0.80722	D	1	P	0.36110	0.537	B	0.43018	0.405	T	0.77675	-0.2499	10	0.33940	T	0.23	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	294	Q9UQE7	SMC3_HUMAN	K	294	ENSP00000354720:E294K	ENSP00000354720:E294K	E	+	1	0	SMC3	112333207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.278000	0.95766	2.835000	0.97688	0.650000	0.86243	GAA	SMC3	-	pfam_RecF/RecN/SMC		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112343217	1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112343217	G	A	112343217	3	1	80	1	0	0	0	0	1	0	0	0	14814	1291	45	1	922	1	SMC3	10	112343217	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	8159184	112343217	23191530	59	12356										
NRAP	4892	genome.wustl.edu	37	chr10	115405665	115405665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agcgagtgataatgtgcagcGcctttcatcttattgaagtc	10	8	2	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:115405665G>A	ENST00000359988.3	-	11	1273	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NRAP_ENST00000369358.4_Silent_p.G343G|NRAP_ENST00000360478.3_Silent_p.G343G|NRAP_ENST00000369360.3_Silent_p.G343G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGTGCAGCGCCTTTCATCT	0.458																																																	0													193	173	180					10																	115405665		2203	4300	6503	SO:0001819	synonymous_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1029C>T	10.37:g.115405665G>A				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.G343	ENST00000359988.3	37	c.1029	CCDS7579.1	10																																																																																			NRAP	-	pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115405665	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	silent	SNP	0.003	A	A	115405665	G	A	115405665	2	1	80	1	0	0	0	0	0	0	0	1	10662	1074	38	2		2	NRAP	10	115405665	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	3062448	115405665	20129082	60	12357										
MUC6	4588	genome.wustl.edu	37	chr11	1016049	1016049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgctggccgtggtcctgggcGtggacggaaatgcaatggtg	18	8	0	0	rs199716176		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:1016049G>A	ENST00000421673.2	-	31	6802	c.6752C>T	c.(6751-6753)aCg>aTg	p.T2251M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2251	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCTGGGCGTGGACGGAAA	0.617																																																	0													101	121	114					11																	1016049		2185	4266	6451	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6752C>T	11.37:g.1016049G>A	ENSP00000406861:p.Thr2251Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.T2251M	ENST00000421673.2	37	c.6752	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683565	0.47991	.	.	ENSG00000184956	ENST00000421673	T	0.28666	1.6	3.08	3.08	0.35506	.	.	.	.	.	T	0.36717	0.0977	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	T	0.11767	-1.0574	9	0.56958	D	0.05	.	10.3032	0.43665	0.0:0.0:1.0:0.0	.	2251	Q6W4X9	MUC6_HUMAN	M	2251	ENSP00000406861:T2251M	ENSP00000406861:T2251M	T	-	2	0	MUC6	1006049	0.009000	0.17119	0.003000	0.11579	0.040000	0.13550	1.550000	0.36223	1.650000	0.50662	0.448000	0.29417	ACG	MUC6	-	NULL		0.617	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1016049	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.057	A	A	1016049	G	A	1016049	3	1	80	1	0	0	0	0	1	0	0	0	10003	1145	40	2	579	2	MUC6	11	1016049	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09		1016049	133990467	61	12358										
MUC6	4588	genome.wustl.edu	37	chr11	1019337	1019337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcattgtggtccgtgttgtgGactgagctgtggacgtcgtg	16	7	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:1019337G>A	ENST00000421673.2	-	30	4018	c.3968C>T	c.(3967-3969)tCc>tTc	p.S1323F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1323	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGTTGTGGACTGAGCTGT	0.627																																																	0													208	216	213					11																	1019337		2198	4284	6482	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3968C>T	11.37:g.1019337G>A	ENSP00000406861:p.Ser1323Phe		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S1323F	ENST00000421673.2	37	c.3968	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307004	0.23821	.	.	ENSG00000184956	ENST00000421673	T	0.19806	2.12	2.91	0.847	0.18961	.	.	.	.	.	T	0.08268	0.0206	N	0.11560	0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.40869	-0.9540	9	0.10111	T	0.7	.	4.0568	0.09821	0.14:0.0:0.6289:0.2311	.	1323	Q6W4X9	MUC6_HUMAN	F	1323	ENSP00000406861:S1323F	ENSP00000406861:S1323F	S	-	2	0	MUC6	1009337	0.706000	0.27856	0.005000	0.12908	0.141000	0.21300	1.230000	0.32612	0.061000	0.16311	0.305000	0.20034	TCC	MUC6	-	NULL		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1019337	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.038	A	A	1019337	G	A	1019337	3	1	80	1	0	0	0	0	1	0	0	0	10003	1174	41	1	3367	1	MUC6	11	1019337	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	3288	1019337	133987179	62	12359										
TRIM34	53840	genome.wustl.edu	37	chr11	5655130	5655130	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aagagaaaacttcctggaagGcaagaggagattctgaaggt	13	5	1	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:5655130G>T	ENST00000514226.1	+	3	856		c.e3+1		TRIM34_ENST00000429814.2_Splice_Site|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Splice_Site|TRIM6-TRIM34_ENST00000354852.5_Splice_Site	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34						positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGGAAGGCAAGAGGAGA	0.473																																																	0													63	64	64					11																	5655130		2201	4297	6498	SO:0001630	splice_region_variant	445372			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.519+1G>T	11.37:g.5655130G>T			D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Splice_Site	SNP	-	e9+1	ENST00000514226.1	37	c.1581+1	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917677	0.52546	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1174	0.48268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM34;TRIM6-TRIM34	5611706	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.444000	0.44890	2.331000	0.79229	0.655000	0.94253	.	TRIM6-TRIM34	-	-		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	G	NM_001003827	Intron	5655130	1	no_errors	ENST00000354852	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	5655130	G	T	5655130	5	4	80	1	0	0	0	0	0	0	1	0	16539	1217	42	4	526	4	TRIM34	11	5655130	Splice_Site	SNP	G	TCGA-EA-A439-01A-11D-A243-09	4635793	5655130	129351386	63	12360										
INCENP	3619	genome.wustl.edu	37	chr11	61914360	61914360	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cgtcggcgggagcaggagcgGctccaggccgagaggtgagg	21	10	0	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:61914360G>T	ENST00000394818.3	+	15	2392	c.2190G>T	c.(2188-2190)cgG>cgT	p.R730R	INCENP_ENST00000278849.4_Silent_p.R726R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	730					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						agcaggagcggcTCCAGGCCG	0.711																																																	0													9	11	11					11																	61914360		1946	3895	5841	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2190G>T	11.37:g.61914360G>T			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R730	ENST00000394818.3	37	c.2190	CCDS44624.1	11																																																																																			INCENP	-	NULL		0.711	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61914360	1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	0.912	T	T	61914360	G	T	61914360	2	4	80	1	0	0	0	0	0	0	0	1	7753	1190	42	4		4	INCENP	11	61914360	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	56259230	61914360	73092156	64	12361										
ARHGAP32	9743	genome.wustl.edu	37	chr11	128858006	128858006	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aatgaatgctgtgcagctttGaagaacctgcggcactaaag	11	8	0	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:128858006G>A	ENST00000310343.9	-	12	1167	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.Q316*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q41*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q41*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	390	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGCAGCTTTGAAGAACCTGC	0.383																																																	0													71	67	69					11																	128858006		2201	4297	6498	SO:0001587	stop_gained	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1168C>T	11.37:g.128858006G>A	ENSP00000310561:p.Gln390*		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q390*	ENST00000310343.9	37	c.1168	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.514498	0.96402	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	.	.	.	5.97	5.97	0.96955	.	0.250931	0.39985	N	0.001204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1506	0.59488	0.0:0.0:0.7403:0.2596	.	.	.	.	X	390;41;316;324;41;100	.	ENSP00000310561:Q390X	Q	-	1	0	ARHGAP32	128363216	1.000000	0.71417	0.989000	0.46669	0.813000	0.45954	4.528000	0.60580	2.838000	0.97847	0.561000	0.74099	CAA	ARHGAP32	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.383	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	G	NM_014715		128858006	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	128858006	G	A	128858006	4	1	80	1	0	0	0	0	0	1	0	0	881	1299	45	1	5139	1	ARHGAP32	11	128858006	Nonsense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	66943646	128858006	6148510	65	12362										
OPCML	4978	genome.wustl.edu	37	chr11	132307162	132307162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	acatcgggcgcagcgacatcGttcaacgcgctgcattcgta	11	13	1	0	rs143650226		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000541867.1_Silent_p.N206N|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	206	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552																																																	0								G	,	0,4402		0,0,2201	122	105	111		597,618	-6	0.6	11	dbSNP_134	111	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	199/339,206/346	132307162	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.618C>T	11.37:g.132307162G>A			B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N206	ENST00000331898.7	37	c.618	CCDS8492.1	11																																																																																			OPCML	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.552	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	G	NM_001012393		132307162	-1	no_errors	ENST00000541867	ensembl	human	known	70_37	silent	SNP	0.898	A	A	132307162	G	A	132307162	2	1	80	1	0	0	0	0	0	0	0	1	10898	1136	40	2		2	OPCML	11	132307162	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	3449156	132307162	2699354	66	12363										
MLL2	8085	genome.wustl.edu	37	chr12	49431567	49431567	+	Frame_Shift_Del	DEL	G	G	-													0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gggtcagcaggtgagctggtGgtcctcccgtggccccaaag							TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:49431567delG	ENST00000301067.7	-	34	9571	c.9572delC	c.(9571-9573)ccafs	p.P3192fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3192					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGAGCTGGTGGTCCTCCCGT	0.622																																																	0													23	25	24					12																	49431567		1990	4152	6142	SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9572delC	12.37:g.49431567delG	ENSP00000301067:p.Pro3192fs		O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3191fs	ENST00000301067.7	37	c.9572	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49431567	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	49431567	G	-	49431567	7	5	80	1	0	1	0	1	0	0	0	0	9644	1348	47	0	7125	0	MLL2	12	49431567	Frame_Shift_Del	DEL	G	TCGA-EA-A439-01A-11D-A243-09		49431567	84420328	67	12364										
DNAJC14	85406	genome.wustl.edu	37	chr12	56216892	56216892	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cggctacacatcatagtattCattgcctccttgaggtcatc	7	12	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:56216892C>T	ENST00000357606.3	-	5	1885	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	RP11-762I7.5_ENST00000552719.1_5'Flank|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.E162K|DNAJC14_ENST00000317269.3_Missense_Mutation_p.M532I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.M532I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	532					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCATAGTATTCATTGCCTCCT	0.438																																																	0													171	143	153					12																	56216892		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1596G>A	12.37:g.56216892C>T	ENSP00000350223:p.Met532Ile		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.M532I	ENST00000357606.3	37	c.1596	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.660022|3.660022	0.67586|0.67586	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287;ENST00000540330	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33498|0.33498	0.0865|0.0865	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B	.|0.25441	.|0.126;0.126	.|B;B	.|0.19946	.|0.027;0.027	T|T	0.03051|0.03051	-1.1078|-1.1078	5|10	.|0.34782	.|T	.|0.22	-5.7822|-5.7822	18.0364|18.0364	0.89305|0.89305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|532;532	.|Q6Y2X3;A8K5A7	.|DJC14_HUMAN;.	K|I	162|532;532;242;532;28	.|ENSP00000350223:M532I;ENSP00000316240:M532I;ENSP00000317500:M532I	.|ENSP00000316240:M532I	E|M	-|-	1|3	0|0	RP11-762I7.5|DNAJC14	54503159|54503159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.159000|7.159000	0.77483|0.77483	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|ATG	DNAJC14	-	NULL		0.438	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56216892	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56216892	C	T	56216892	3	4	80	1	0	0	0	0	1	0	0	0	4643	826	29	1	528	1	DNAJC14	12	56216892	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	6785325	56216892	77635003	68	12365										
LRP1	4035	genome.wustl.edu	37	chr12	57598989	57598989	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tccctgcgctgcaacatgttCgatgactgcggggacggctc	13	13	0	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:57598989C>T	ENST00000243077.3	+	73	11758	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3764	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAACATGTTCGATGACTGCG	0.662																																																	0													84	80	81					12																	57598989		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11292C>T	12.37:g.57598989C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F3764	ENST00000243077.3	37	c.11292	CCDS8932.1	12																																																																																			LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt		0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	C	NM_002332		57598989	1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	0.765	T	T	57598989	C	T	57598989	2	4	80	1	0	0	0	0	0	0	0	1	8974	883	31	1		1	LRP1	12	57598989	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	1382097	57598989	76252906	69	12366										
LRP1	4035	genome.wustl.edu	37	chr12	57604559	57604559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cccaaatgcacccagcaggtGtgtgcgggctactgtgccaa	12	13	0	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:57604559G>A	ENST00000243077.3	+	83	13279	c.12813G>A	c.(12811-12813)gtG>gtA	p.V4271V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4271	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCAGCAGGTGTGTGCGGGCT	0.667																																																	0													61	63	62					12																	57604559		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12813G>A	12.37:g.57604559G>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V4271	ENST00000243077.3	37	c.12813	CCDS8932.1	12																																																																																			LRP1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57604559	1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57604559	G	A	57604559	2	1	80	1	0	0	0	0	0	0	0	1	8974	1364	48	4		4	LRP1	12	57604559	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	5570	57604559	76247336	70	12367										
NAV3	89795	genome.wustl.edu	37	chr12	78553032	78553032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cttagggaatatgactggccGattgcaaagtctaactatga	10	7	1	2	rs372156228		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:78553032G>A	ENST00000397909.2	+	23	5008	c.4835G>A	c.(4834-4836)cGa>cAa	p.R1612Q	NAV3_ENST00000228327.6_Missense_Mutation_p.R1612Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R1435Q|NAV3_ENST00000536525.2_Missense_Mutation_p.R1612Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1612						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGACTGGCCGATTGCAAAGT	0.383										HNSCC(70;0.22)																																							0								G	GLN/ARG	0,3710		0,0,1855	118	109	112		4835	4.5	1	12		112	1,8199		0,1,4099	no	missense	NAV3	NM_014903.4	43	0,1,5954	AA,AG,GG		0.0122,0.0,0.0084	benign	1612/2364	78553032	1,11909	1855	4100	5955	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4835G>A	12.37:g.78553032G>A	ENSP00000381007:p.Arg1612Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1612Q	ENST00000397909.2	37	c.4835		12	.	.	.	.	.	.	.	.	.	.	G	31	5.071238	0.93950	0.0	1.22E-4	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.44	4.54	0.55810	.	0.000000	0.35207	U	0.003372	D	0.95608	0.8572	M	0.75615	2.305	0.80722	D	1	D;B;D;B	0.67145	0.996;0.168;0.996;0.168	P;B;P;B	0.60345	0.873;0.016;0.649;0.029	D	0.95932	0.8939	10	0.87932	D	0	-8.5639	14.3696	0.66830	0.0716:0.0:0.9284:0.0	.	1612;1435;1612;1612	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	Q	1612;1612;1612;1435;233;241	ENSP00000446132:R1612Q;ENSP00000381007:R1612Q;ENSP00000228327:R1612Q;ENSP00000266692:R1435Q;ENSP00000448303:R241Q	ENSP00000228327:R1612Q	R	+	2	0	NAV3	77077163	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.063000	0.93927	1.416000	0.47057	0.655000	0.94253	CGA	NAV3	-	NULL		0.383	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78553032	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78553032	G	A	78553032	3	1	80	1	0	0	0	0	1	0	0	0	10208	1058	37	1	4925	1	NAV3	12	78553032	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	20948473	78553032	55298863	71	12368										
TMTC3	160418	genome.wustl.edu	37	chr12	88547151	88547151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agtgaactaaaaccaatgtcAtatcatctcctgaatatgat	5	8	3	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:88547151A>G	ENST00000266712.6	+	3	493	c.273A>G	c.(271-273)tcA>tcG	p.S91S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	91					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACCAATGTCATATCATCTCC	0.348																																																	0													136	117	124					12																	88547151		2203	4300	6503	SO:0001819	synonymous_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.273A>G	12.37:g.88547151A>G			Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S91	ENST00000266712.6	37	c.273	CCDS9032.1	12																																																																																			TMTC3	-	NULL		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	A	NM_181783		88547151	1	no_errors	ENST00000266712	ensembl	human	known	70_37	silent	SNP	0.636	G	G	88547151	A	G	88547151	2	3	80	1	0	0	0	0	0	0	0	1	16292	204	8	5		5	TMTC3	12	88547151	Silent	SNP	A	TCGA-EA-A439-01A-11D-A243-09	9994119	88547151	45304744	72	12369										
C12orf51	283450	genome.wustl.edu	37	chr12	112622247	112622247	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cggcaggcagcggatccacaGagaggtcgctgacggtttgg	17	10	0	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:112622247G>C	ENST00000430131.2	-	60	10402	c.9257C>G	c.(9256-9258)tCt>tGt	p.S3086C	HECTD4_ENST00000377560.5_Missense_Mutation_p.S3336C|HECTD4_ENST00000550722.1_Missense_Mutation_p.S3362C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3086					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGGATCCACAGAGAGGTCGCT	0.677																																																	0													21	27	25					12																	112622247		2185	4283	6468	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9257C>G	12.37:g.112622247G>C	ENSP00000404379:p.Ser3086Cys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S3336C	ENST00000430131.2	37	c.10007		12	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150721	0.21371	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54279	0.59;0.59;0.58	5.82	5.82	0.92795	.	.	.	.	.	T	0.44993	0.1320	N	0.19112	0.55	0.42552	D	0.993116	P	0.42785	0.79	B	0.40702	0.338	T	0.50608	-0.8808	9	0.72032	D	0.01	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	3086	Q9Y4D8	K0614_HUMAN	C	3336;3086;3362	ENSP00000366783:S3336C;ENSP00000404379:S3086C;ENSP00000449784:S3362C	ENSP00000366783:S3336C	S	-	2	0	C12orf51	111106630	1.000000	0.71417	0.967000	0.41034	0.012000	0.07955	4.913000	0.63341	2.757000	0.94681	0.655000	0.94253	TCT	HECTD4	-	NULL		0.677	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112622247	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	0.972	C	C	112622247	G	C	112622247	3	2	80	1	0	0	0	0	1	0	0	0	1700	942	33	1	2797	1	C12orf51	12	112622247	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	24075096	112622247	21229648	73	12370										
SRRM4	84530	genome.wustl.edu	37	chr12	119594444	119594444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cggagtcggagccggagccgGagacggagccggacccgcac	18	14	0	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:119594444G>A	ENST00000267260.4	+	13	2065	c.1677G>A	c.(1675-1677)cgG>cgA	p.R559R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	559	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						gccggagccggagacggagcc	0.731																																																	0													6	8	8					12																	119594444		1970	4133	6103	SO:0001819	synonymous_variant	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1677G>A	12.37:g.119594444G>A			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.R559	ENST00000267260.4	37	c.1677	CCDS44994.1	12																																																																																			SRRM4	-	NULL		0.731	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	G	NM_194286		119594444	1	no_errors	ENST00000267260	ensembl	human	known	70_37	silent	SNP	0.961	A	A	119594444	G	A	119594444	2	1	80	1	0	0	0	0	0	0	0	1	15201	1161	41	1		1	SRRM4	12	119594444	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	6972197	119594444	14257451	74	12371										
SPPL3	121665	genome.wustl.edu	37	chr12	121220471	121220471	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cactcaccatccatgagaagCcaatggccagtgagaaccca	8	14	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:121220471C>T	ENST00000353487.2	-	6	992	c.489G>A	c.(487-489)tgG>tgA	p.W163*		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	164						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAGAAGCCAATGGCCAG	0.418																																																	0													104	80	88					12																	121220471		2203	4300	6503	SO:0001587	stop_gained	121665				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.489G>A	12.37:g.121220471C>T	ENSP00000288680:p.Trp163*		Q3MJ04|Q8TAU4|Q96DD9	Nonsense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.W163*	ENST00000353487.2	37	c.489	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312355	0.81358	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854	.	.	.	5.15	5.15	0.70609	.	0.107940	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9157	18.2223	0.89905	0.0:1.0:0.0:0.0	.	.	.	.	X	163;162;126;126;77	.	ENSP00000288680:W163X	W	-	3	0	AC069214.1	119704854	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.205000	0.77881	2.394000	0.81467	0.460000	0.39030	TGG	SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22		0.418	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	C	NM_139015		121220471	-1	no_errors	ENST00000353487	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	121220471	C	T	121220471	4	4	80	1	0	0	0	0	0	1	0	0	15120	740	26	4	689	4	SPPL3	12	121220471	Nonsense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	1626027	121220471	12631424	75	12372										
TMEM132D	121256	genome.wustl.edu	37	chr12	129563184	129563184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gacagccctgtcaccagctgCaccccgaggtctgtgatggt	12	14	2	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:129563184C>T	ENST00000422113.2	-	8	2336	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	TMEM132D_ENST00000389441.4_Silent_p.V208V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	670					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACCAGCTGCACCCCGAGGT	0.577																																																	0													155	129	138					12																	129563184		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2010G>A	12.37:g.129563184C>T			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.V670	ENST00000422113.2	37	c.2010	CCDS9266.1	12																																																																																			TMEM132D	-	NULL		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	C	NM_133448		129563184	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	silent	SNP	0.934	T	T	129563184	C	T	129563184	2	4	80	1	0	0	0	0	0	0	0	1	16077	697	25	4		4	TMEM132D	12	129563184	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	8342713	129563184	4288711	76	12373										
EP400	57634	genome.wustl.edu	37	chr12	132466052	132466052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agagcagtctaagaggcctcGccttgaagtgggtcaccaag	13	10	2	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:132466052G>C	ENST00000333577.4	+	5	1671	c.1562G>C	c.(1561-1563)cGc>cCc	p.R521P	EP400_ENST00000389561.2_Missense_Mutation_p.R485P|EP400_ENST00000389562.2_Missense_Mutation_p.R484P|EP400_ENST00000330386.6_Missense_Mutation_p.R485P|EP400_ENST00000332482.4_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	521					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aagaGGCCTCGCCTTGAAGTG	0.463																																																	0													42	37	39					12																	132466052		2202	4299	6501	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1562G>C	12.37:g.132466052G>C	ENSP00000333602:p.Arg521Pro		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R521P	ENST00000333577.4	37	c.1562		12	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956779	0.53293	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D	0.94723	-3.5;-2.7;-2.66;-2.69	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.63428	1.95	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96962	0.9702	10	0.72032	D	0.01	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	485;485;484;521	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8	.;.;.;.	P	521;485;484;485;521;485;485	ENSP00000333602:R521P;ENSP00000374212:R485P;ENSP00000374213:R484P;ENSP00000330620:R485P	ENSP00000330620:R485P	R	+	2	0	EP400	131032005	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	CGC	EP400	-	NULL		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132466052	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132466052	G	C	132466052	3	2	80	1	0	0	0	0	1	0	0	0	5161	1087	38	2	1461	2	EP400	12	132466052	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	2902868	132466052	1385843	77	12374										
ATP7B	540	genome.wustl.edu	37	chr13	52518268	52518268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tttacagtatttggtgactgCcacgcccaaggggtgttcac	11	10	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr13:52518268C>T	ENST00000242839.4	-	14	3376	c.3220G>A	c.(3220-3222)Gca>Aca	p.A1074T	ATP7B_ENST00000448424.2_Missense_Mutation_p.A996T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A963T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.A867T|ATP7B_ENST00000400370.3_Missense_Mutation_p.A644T|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.A1009T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1074					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTGGTGACTGCCACGCCCAAG	0.612									Wilson disease																																								0													41	44	43					13																	52518268		2056	4191	6247	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3220G>A	13.37:g.52518268C>T	ENSP00000242839:p.Ala1074Thr		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.A1074T	ENST00000242839.4	37	c.3220	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616959	0.87359	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.43	5.43	0.79202	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.87827	2.91	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.99;0.999;0.999;0.999;0.516;0.999;1.0	D;D;D;D;P;D;D	0.97110	0.987;0.998;0.996;0.996;0.662;0.996;1.0	D	0.99470	1.0945	10	0.66056	D	0.02	-16.1767	19.2349	0.93855	0.0:1.0:0.0:0.0	.	996;1026;1009;644;963;867;1074	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	T	1074;963;867;996;644;1009	ENSP00000242839:A1074T;ENSP00000383217:A963T;ENSP00000342559:A867T;ENSP00000416738:A996T;ENSP00000383221:A644T;ENSP00000393343:A1009T	ENSP00000242839:A1074T	A	-	1	0	ATP7B	51416269	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	6.037000	0.70956	2.571000	0.86741	0.561000	0.74099	GCA	ATP7B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal		0.612	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52518268	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52518268	C	T	52518268	3	4	80	1	0	0	0	0	1	0	0	0	1192	739	26	4	1209	4	ATP7B	13	52518268	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		52518268	62651610	78	12375										
PIBF1	10464	genome.wustl.edu	37	chr13	73366588	73366588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tttttctctttacgaagattGaagaattggaggagaaactt	9	4	1	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr13:73366588G>A	ENST00000326291.6	+	3	594	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	86						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TACGAAGATTGAAGAATTGGA	0.308																																																	0													51	56	54					13																	73366588		2201	4297	6498	SO:0001583	missense	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.256G>A	13.37:g.73366588G>A	ENSP00000317144:p.Glu86Lys		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.E86K	ENST00000326291.6	37	c.256	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882315	0.91740	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06768	3.26	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.00563	-1.1669	10	0.32370	T	0.25	-21.1007	19.6271	0.95682	0.0:0.0:1.0:0.0	.	86;86	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	86	ENSP00000317144:E86K	ENSP00000317144:E86K	E	+	1	0	PIBF1	72264589	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.096000	0.94182	2.645000	0.89757	0.591000	0.81541	GAA	PIBF1	-	NULL		0.308	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	G	NM_006346		73366588	1	no_errors	ENST00000326291	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73366588	G	A	73366588	3	1	80	1	0	0	0	0	1	0	0	0	11903	1291	45	1	262	1	PIBF1	13	73366588	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	20848320	73366588	41803290	79	12376										
SLITRK6	84189	genome.wustl.edu	37	chr13	86369518	86369518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	atcagacttcattaaactgtGaataatatttcccgctagaa	5	8	2	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr13:86369518G>A	ENST00000400286.2	-	2	1724	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	376					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTAAACTGTGAATAATATTT	0.373																																																	0													74	69	70					13																	86369518		1829	4087	5916	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1126C>T	13.37:g.86369518G>A	ENSP00000383143:p.His376Tyr		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H376Y	ENST00000400286.2	37	c.1126	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	G	5.288	0.238569	0.10023	.	.	ENSG00000184564	ENST00000400286	T	0.02395	4.31	5.76	4.92	0.64577	.	0.119866	0.56097	D	0.000022	T	0.02494	0.0076	N	0.24115	0.695	0.28195	N	0.927582	B	0.31730	0.337	B	0.25614	0.062	T	0.35001	-0.9806	10	0.66056	D	0.02	-11.4611	10.8216	0.46608	0.0:0.142:0.7104:0.1476	.	376	Q9H5Y7	SLIK6_HUMAN	Y	376	ENSP00000383143:H376Y	ENSP00000383143:H376Y	H	-	1	0	SLITRK6	85267519	1.000000	0.71417	0.990000	0.47175	0.290000	0.27261	5.523000	0.67099	1.456000	0.47831	-0.196000	0.12772	CAC	SLITRK6	-	NULL		0.373	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	G	NM_032229		86369518	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86369518	G	A	86369518	3	1	80	1	0	0	0	0	1	0	0	0	14777	1290	45	1	1403	1	SLITRK6	13	86369518	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	13002930	86369518	28800360	80	12377										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68221929	68221929	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tatgactttgctttgtgactGaagaaccgaatacaggtcat	9	7	1	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:68221929G>A	ENST00000347230.4	-	37	6963	c.6825C>T	c.(6823-6825)ttC>ttT	p.F2275F	ZFYVE26_ENST00000557306.1_Silent_p.F121F	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2275					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTTGTGACTGAAGAACCGAA	0.483																																																	0													133	120	124					14																	68221929		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6825C>T	14.37:g.68221929G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.F2275	ENST00000347230.4	37	c.6825	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68221929	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68221929	G	A	68221929	2	1	80	1	0	0	0	0	0	0	0	1	17698	1281	45	1		1	ZFYVE26	14	68221929	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09		68221929	39127611	81	12378										
MLH3	27030	genome.wustl.edu	37	chr14	75505074	75505074	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ttctcttcagtcttagtgctCatcaaacaggcaataaactt	5	10	5	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:75505074C>T	ENST00000556740.1	-	5	3647	c.3612G>A	c.(3610-3612)atG>atA	p.M1204I	MLH3_ENST00000355774.2_Missense_Mutation_p.M1204I|MLH3_ENST00000380968.2_Missense_Mutation_p.M150I|MLH3_ENST00000544985.1_Missense_Mutation_p.M164I|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.M1204I|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1204					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCTTAGTGCTCATCAAACAGG	0.353								Mismatch excision repair (MMR)																																									0													129	120	123					14																	75505074		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3612G>A	14.37:g.75505074C>T	ENSP00000452316:p.Met1204Ile		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.M1204I	ENST00000556740.1	37	c.3612	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883637	0.51908	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740;ENST00000544985	T;T;T;T;T	0.78816	-1.21;0.79;-1.16;-1.21;0.7	5.58	5.58	0.84498	MutL, C-terminal, dimerisation (1);	0.083862	0.85682	D	0.000000	T	0.68247	0.2980	N	0.25144	0.715	0.32614	N	0.524283	P;B	0.34615	0.459;0.21	B;B	0.41135	0.348;0.137	T	0.72232	-0.4353	10	0.25751	T	0.34	-15.9209	11.4654	0.50235	0.1248:0.6847:0.1905:0.0	.	1204;1204	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	I	1204;150;1204;1204;164	ENSP00000348020:M1204I;ENSP00000370355:M150I;ENSP00000238662:M1204I;ENSP00000452316:M1204I;ENSP00000441371:M164I	ENSP00000238662:M1204I	M	-	3	0	MLH3	74574827	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.822000	0.39052	2.640000	0.89533	0.561000	0.74099	ATG	MLH3	-	smart_MutL_C		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	C	NM_014381		75505074	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75505074	C	T	75505074	3	4	80	1	0	0	0	0	1	0	0	0	9641	826	29	1	781	1	MLH3	14	75505074	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	7283145	75505074	31844466	82	12379										
SERPINA6	866	genome.wustl.edu	37	chr14	94780392	94780392	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cctttgaagaagatatagttGaccaggacgaggatggctgg	14	6	0	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:94780392G>C	ENST00000341584.3	-	2	740	c.594C>G	c.(592-594)gtC>gtG	p.V198V		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	198					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGATATAGTTGACCAGGACGA	0.498																																																	0													112	111	111					14																	94780392		2203	4300	6503	SO:0001819	synonymous_variant	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.594C>G	14.37:g.94780392G>C			A8K456|Q7Z2Q9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.V198	ENST00000341584.3	37	c.594	CCDS9924.1	14																																																																																			SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.498	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1	G	NM_001756		94780392	-1	no_errors	ENST00000341584	ensembl	human	known	70_37	silent	SNP	1.000	C	C	94780392	G	C	94780392	2	2	80	1	0	0	0	0	0	0	0	1	14123	1277	45	1		1	SERPINA6	14	94780392	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	19275318	94780392	12569148	83	12380										
AHNAK2	113146	genome.wustl.edu	37	chr14	105418694	105418694	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctgcatggaggggagactcaGgtcggcctccaccttgggtg	16	11	1	1	rs140208061	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:105418694G>C	ENST00000333244.5	-	7	3213	c.3094C>G	c.(3094-3096)Ctg>Gtg	p.L1032V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1032						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCAGGTCGGCCTCC	0.582													.|||	9	0.00179712	0.0023	0.0029	5008	,	,		19979	0.002		0	False		,,,				2504	0.002																0								C	VAL/LEU	1,3955		0,1,1977	138	151	147		3094	0.6	0	14	dbSNP_134	147	1,8315		0,1,4157	no	missense	AHNAK2	NM_138420.2	32	0,2,6134	CC,CG,GG		0.012,0.0253,0.0163	benign	1032/5796	105418694	2,12270	1978	4158	6136	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3094C>G	14.37:g.105418694G>C	ENSP00000353114:p.Leu1032Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1032V	ENST00000333244.5	37	c.3094	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.119769	0.00346	2.53E-4	1.2E-4	ENSG00000185567	ENST00000333244	T	0.00581	6.42	3.5	0.558	0.17266	.	.	.	.	.	T	0.00144	0.0004	N	0.00075	-2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40175	-0.9577	9	0.02654	T	1	.	5.329	0.15922	0.0:0.4351:0.2925:0.2724	.	1032	Q8IVF2	AHNK2_HUMAN	V	1032	ENSP00000353114:L1032V	ENSP00000353114:L1032V	L	-	1	2	AHNAK2	104489739	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.097000	0.00606	-0.661000	0.05345	-2.269000	0.00276	CTG	AHNAK2	-	NULL		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105418694	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	C	C	105418694	G	C	105418694	3	2	80	1	0	0	0	0	1	0	0	0	415	991	35	4	14297	4	AHNAK2	14	105418694	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	10638302	105418694	1930846	84	12381										
DUOX2	50506	genome.wustl.edu	37	chr15	45404058	45404058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gtccccgcgctggtcggggtCgaacacggggtctccaggtg	17	13	1	0	rs376160362		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:45404058C>T	ENST00000603300.1	-	5	623	c.421G>A	c.(421-423)Gac>Aac	p.D141N	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.D141N	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	141	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGGTCGGGGTCGAACACGGGG	0.687																																																	0								C	ASN/ASP	0,4396		0,0,2198	29	28	28		421	5.2	1	15		28	1,8595		0,1,4297	no	missense	DUOX2	NM_014080.4	23	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	141/1549	45404058	1,12991	2198	4298	6496	SO:0001583	missense	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.421G>A	15.37:g.45404058C>T	ENSP00000475084:p.Asp141Asn		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.D141N	ENST00000603300.1	37	c.421	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	.	36	5.782155	0.96937	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.22	5.22	0.72569	.	0.048594	0.85682	D	0.000000	T	0.77130	0.4085	M	0.80422	2.495	0.80722	D	1	D	0.56287	0.975	P	0.56916	0.809	T	0.79451	-0.1798	9	0.51188	T	0.08	-15.5955	17.7657	0.88477	0.0:1.0:0.0:0.0	.	141	Q9NRD8	DUOX2_HUMAN	N	141	.	ENSP00000373691:D141N	D	-	1	0	DUOX2	43191350	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.423000	0.80229	2.460000	0.83146	0.561000	0.74099	GAC	DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.687	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		C	NM_014080		45404058	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45404058	C	T	45404058	3	4	80	1	0	0	0	0	1	0	0	0	4811	884	31	1	4345	1	DUOX2	15	45404058	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		45404058	57127334	85	12382										
KIF7	374654	genome.wustl.edu	37	chr15	90189187	90189187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cttcctcctctgaagcagctGaagagccacttcccagcctg	8	16	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:90189187G>A	ENST00000394412.3	-	8	1935	c.1859C>T	c.(1858-1860)tCa>tTa	p.S620L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	620	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGAAGCAGCTGAAGAGCCACT	0.612																																																	0													143	127	132					15																	90189187		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1859C>T	15.37:g.90189187G>A	ENSP00000377934:p.Ser620Leu		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S620L	ENST00000394412.3	37	c.1859	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	14.16	2.451516	0.43531	.	.	ENSG00000166813	ENST00000394412	T	0.70282	-0.47	3.86	3.86	0.44501	.	0.931944	0.08937	N	0.872223	T	0.64080	0.2566	L	0.44542	1.39	0.32672	N	0.516659	B;P	0.47762	0.0;0.9	B;B	0.40602	0.002;0.334	T	0.67133	-0.5747	10	0.40728	T	0.16	.	12.0068	0.53263	0.0:0.0:1.0:0.0	.	107;620	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	L	620	ENSP00000377934:S620L	ENSP00000377934:S620L	S	-	2	0	KIF7	87990191	0.992000	0.36948	0.844000	0.33320	0.865000	0.49528	3.198000	0.51035	2.099000	0.63709	0.558000	0.71614	TCA	KIF7	-	NULL		0.612	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	G	NM_198525		90189187	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.949	A	A	90189187	G	A	90189187	3	1	80	1	0	0	0	0	1	0	0	0	8329	1294	45	1	2220	1	KIF7	15	90189187	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	44785129	90189187	12342205	86	12383										
IQGAP1	8826	genome.wustl.edu	37	chr15	91017856	91017856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctcattcgttctaaccagcaGctggagaatgacctcaatct	7	12	4	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:91017856G>T	ENST00000268182.5	+	23	2839	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q333H|IQGAP1_ENST00000560020.1_3'UTR	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	905					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTAACCAGCAGCTGGAGAATG	0.483																																																	0													112	99	104					15																	91017856		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2715G>T	15.37:g.91017856G>T	ENSP00000268182:p.Gln905His		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.Q905H	ENST00000268182.5	37	c.2715	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233468	0.58886	.	.	ENSG00000140575	ENST00000268182	T	0.02579	4.24	4.62	1.73	0.24493	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.00423	-1.1748	10	0.52906	T	0.07	-22.8024	8.9811	0.35966	0.3197:0.0:0.6803:0.0	.	905	P46940	IQGA1_HUMAN	H	905	ENSP00000268182:Q905H	ENSP00000268182:Q905H	Q	+	3	2	IQGAP1	88818860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.552000	0.53705	0.287000	0.22375	-0.229000	0.12294	CAG	IQGAP1	-	NULL		0.483	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		91017856	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91017856	G	T	91017856	3	4	80	1	0	0	0	0	1	0	0	0	7834	962	34	4	2805	4	IQGAP1	15	91017856	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	828669	91017856	11513536	87	12384										
CRTC3	64784	genome.wustl.edu	37	chr15	91181971	91181971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tccttattccctgaagggctCatctttgaccaacttcttcc	5	14	3	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:91181971C>T	ENST00000268184.6	+	13	1476	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	CRTC3_ENST00000420329.2_Missense_Mutation_p.S491L|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	491					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGAAGGGCTCATCTTTGACC	0.542			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													135	123	127					15																	91181971		2198	4298	6496	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1472C>T	15.37:g.91181971C>T	ENSP00000268184:p.Ser491Leu		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	NULL	p.S491L	ENST00000268184.6	37	c.1472	CCDS32331.1	15	.	.	.	.	.	.	.	.	.	.	C	0.715	-0.785836	0.02907	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.12361	2.71;2.69	5.55	4.64	0.57946	.	1.148490	0.06240	N	0.690272	T	0.15869	0.0382	L	0.44542	1.39	0.26816	N	0.9689	B;B	0.22683	0.043;0.073	B;B	0.18561	0.01;0.022	T	0.18903	-1.0322	10	0.59425	D	0.04	-6.2835	10.3688	0.44042	0.0:0.9121:0.0:0.0879	.	491;491	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	L	455;491;491	ENSP00000268184:S491L;ENSP00000416573:S491L	ENSP00000268184:S491L	S	+	2	0	CRTC3	88982975	0.960000	0.32886	0.429000	0.26710	0.007000	0.05969	3.282000	0.51693	1.588000	0.49971	-0.150000	0.13652	TCA	CRTC3	-	NULL		0.542	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	C	NM_022769		91181971	1	no_errors	ENST00000268184	ensembl	human	known	70_37	missense	SNP	0.447	T	T	91181971	C	T	91181971	3	4	80	1	0	0	0	0	1	0	0	0	3906	838	29	1	1522	1	CRTC3	15	91181971	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	164115	91181971	11349421	88	12385										
MKL2	57496	genome.wustl.edu	37	chr16	14311069	14311069	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	atctgaatgaaaagattgctCaaagacctggtcctatggag	10	7	2	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:14311069C>G	ENST00000341243.5	+	5	406	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	MKL2_ENST00000571589.1_Missense_Mutation_p.Q147E|MKL2_ENST00000574045.1_Missense_Mutation_p.Q147E|MKL2_ENST00000573051.1_Missense_Mutation_p.Q96E|MKL2_ENST00000318282.5_Missense_Mutation_p.Q147E|MKL2_ENST00000572567.1_Missense_Mutation_p.Q136E			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	136					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAGATTGCTCAAAGACCTGG	0.403																																																	0													121	131	128					16																	14311069		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.406C>G	16.37:g.14311069C>G	ENSP00000345841:p.Gln136Glu		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.Q136E	ENST00000341243.5	37	c.406		16	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747784	0.89663	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99836	-7.05;-7.05	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	M	0.80183	2.485	0.58432	D	0.999999	D;D;D;P	0.63046	0.971;0.992;0.992;0.955	D;D;D;P	0.70716	0.921;0.97;0.959;0.862	D	0.97490	1.0053	10	0.59425	D	0.04	-16.0211	19.2924	0.94105	0.0:1.0:0.0:0.0	.	96;147;136;147	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	E	147;136;136	ENSP00000339086:Q147E;ENSP00000345841:Q136E	ENSP00000339086:Q147E	Q	+	1	0	MKL2	14218570	1.000000	0.71417	0.950000	0.38849	0.996000	0.88848	7.729000	0.84864	2.878000	0.98634	0.650000	0.86243	CAA	MKL2	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat		0.403	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		C	NM_014048		14311069	1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	1.000	G	G	14311069	C	G	14311069	3	3	80	1	0	0	0	0	1	0	0	0	9625	827	29	1	457	1	MKL2	16	14311069	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		14311069	76043684	89	12386										
SMG1	23049	genome.wustl.edu	37	chr16	18849892	18849892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cctttttcaaagcaaacattGtaatctatgtgaacaacttc	4	9	2	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:18849892G>A	ENST00000446231.2	-	43	7477	c.7065C>T	c.(7063-7065)taC>taT	p.Y2355Y	SMG1_ENST00000389467.3_Silent_p.Y2355Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2355	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGCAAACATTGTAATCTATGT	0.333																																																	0													147	136	139					16																	18849892		1830	4079	5909	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7065C>T	16.37:g.18849892G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y2355	ENST00000446231.2	37	c.7065	CCDS45430.1	16																																																																																			SMG1	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18849892	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18849892	G	A	18849892	2	1	80	1	0	0	0	0	0	0	0	1	14825	1372	48	4		4	SMG1	16	18849892	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	4538823	18849892	71504861	90	12387										
IRX6	79190	genome.wustl.edu	37	chr16	55362858	55362858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctccttcaatgacccttccgGatcggaagaagctgacttcc	8	14	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:55362858G>A	ENST00000290552.7	+	5	2300	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	323					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GACCCTTCCGGATCGGAAGAA	0.642																																																	0													44	47	46					16																	55362858		2197	4299	6496	SO:0001583	missense	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.968G>A	16.37:g.55362858G>A	ENSP00000290552:p.Gly323Glu		B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.G323E	ENST00000290552.7	37	c.968	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	G	0.333	-0.955244	0.02267	.	.	ENSG00000159387	ENST00000290552	D	0.88818	-2.43	5.27	2.19	0.27852	.	1.061130	0.07242	N	0.864416	T	0.78553	0.4301	N	0.19112	0.55	0.09310	N	1	B	0.24186	0.099	B	0.27715	0.082	T	0.62267	-0.6890	10	0.02654	T	1	-6.4995	7.9319	0.29907	0.2744:0.0:0.7256:0.0	.	323	P78412	IRX6_HUMAN	E	323	ENSP00000290552:G323E	ENSP00000290552:G323E	G	+	2	0	IRX6	53920359	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.287000	0.18920	0.594000	0.29761	0.462000	0.41574	GGA	IRX6	-	NULL		0.642	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	G	NM_024335		55362858	1	no_errors	ENST00000290552	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55362858	G	A	55362858	3	1	80	1	0	0	0	0	1	0	0	0	7868	1174	41	1	986	1	IRX6	16	55362858	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	36512966	55362858	34991895	91	12388										
NLRC5	84166	genome.wustl.edu	37	chr16	57070034	57070034	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tctcagggaaccagctggaaGatgaaggctgtcggctgatg	15	8	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:57070034G>A	ENST00000262510.6	+	14	2875	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	NLRC5_ENST00000436936.1_Missense_Mutation_p.D884N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D884N|NLRC5_ENST00000539144.1_Missense_Mutation_p.D884N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	884					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.D884N(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGCTGGAAGATGAAGGCTG	0.607																																																	1	Substitution - Missense(1)	ovary(1)											54	50	51					16																	57070034		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2650G>A	16.37:g.57070034G>A	ENSP00000262510:p.Asp884Asn		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.D884N	ENST00000262510.6	37	c.2650	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273351|4.273351	0.80580|0.80580	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.70399|.	0.36;0.36;0.36;0.36;0.36;-0.48|.	5.08|5.08	4.12|4.12	0.48240|0.48240	.|.	0.222353|.	0.22757|.	N|.	0.056012|.	T|T	0.62417|0.62417	0.2426|0.2426	M|M	0.83953|0.83953	2.67|2.67	0.25387|0.25387	N|N	0.98857|0.98857	D;D;P;D|.	0.89917|.	1.0;0.998;0.918;0.998|.	D;D;P;D|.	0.81914|.	0.995;0.985;0.896;0.982|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.54805|.	T|.	0.06|.	.|.	11.1888|11.1888	0.48673|0.48673	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	884;884;884;884|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	N|K	884;884;884;358;884;391;183|636	ENSP00000262510:D884N;ENSP00000308886:D884N;ENSP00000389739:D884N;ENSP00000441727:D884N;ENSP00000441597:D391N;ENSP00000440153:D183N|.	ENSP00000262510:D884N|.	D|R	+|+	1|2	0|0	NLRC5|NLRC5	55627535|55627535	1.000000|1.000000	0.71417|0.71417	0.586000|0.586000	0.28679|0.28679	0.959000|0.959000	0.62525|0.62525	3.160000|3.160000	0.50739|0.50739	1.375000|1.375000	0.46248|0.46248	0.561000|0.561000	0.74099|0.74099	GAT|AGA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.607	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	G	NM_032206		57070034	1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.988	A	A	57070034	G	A	57070034	3	1	80	1	0	0	0	0	1	0	0	0	10494	942	33	1	2696	1	NLRC5	16	57070034	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	1707176	57070034	33284719	92	12389										
HYDIN	54768	genome.wustl.edu	37	chr16	71127826	71127826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctttgattcggaggggcagaCggatttctcggcctagaaaa	13	8	1	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:71127826C>T	ENST00000393567.2	-	11	1490	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	HYDIN_ENST00000321489.5_Missense_Mutation_p.R447H|HYDIN_ENST00000448089.2_Missense_Mutation_p.R447H|HYDIN_ENST00000448691.1_Missense_Mutation_p.R447H|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000393550.2_Missense_Mutation_p.R447H|HYDIN_ENST00000541601.1_Missense_Mutation_p.R464H|HYDIN_ENST00000288168.10_Missense_Mutation_p.R464H|HYDIN_ENST00000538248.1_Missense_Mutation_p.R474H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	447					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGGGGCAGACGGATTTCTCG	0.408																																																	0													58	57	57					16																	71127826		2198	4300	6498	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1340G>A	16.37:g.71127826C>T	ENSP00000377197:p.Arg447His		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.R447H	ENST00000393567.2	37	c.1340	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434713	0.83885	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.19532	5.09;3.3;3.35;3.35;3.34;3.33;3.03;2.14	4.95	4.95	0.65309	.	0.000000	0.28901	U	0.013774	T	0.52191	0.1719	M	0.86178	2.8	0.40151	D	0.976956	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.951	T	0.58578	-0.7612	10	0.46703	T	0.11	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	474;464;464;447;447	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	H	447;447;447;447;447;474;464;464;447	ENSP00000377197:R447H;ENSP00000398544:R447H;ENSP00000394826:R447H;ENSP00000314736:R447H;ENSP00000444970:R474H;ENSP00000437341:R464H;ENSP00000288168:R464H;ENSP00000377181:R447H	ENSP00000288168:R464H	R	-	2	0	HYDIN	69685327	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.458000	0.66679	2.337000	0.79520	0.194000	0.17425	CGT	HYDIN	-	NULL		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71127826	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71127826	C	T	71127826	3	4	80	1	0	0	0	0	1	0	0	0	7487	536	19	2	14338	2	HYDIN	16	71127826	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	14057792	71127826	19226927	93	12390										
ZFHX3	463	genome.wustl.edu	37	chr16	72993679	72993679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aggttctccacgtcactctcCtcgtccccctcctcaccggt	6	20	4	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:72993679C>T	ENST00000268489.5	-	2	1038	c.366G>A	c.(364-366)gaG>gaA	p.E122E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	122					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGTCACTCTCCTCGTCCCCCT	0.701																																																	0													33	35	34					16																	72993679		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.366G>A	16.37:g.72993679C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E122	ENST00000268489.5	37	c.366	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.701	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72993679	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72993679	C	T	72993679	2	4	80	1	0	0	0	0	0	0	0	1	17664	680	24	4		4	ZFHX3	16	72993679	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	1865853	72993679	17361074	94	12391										
BCAR1	9564	genome.wustl.edu	37	chr16	75301816	75301816	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctagagccctcacttactctGaggcagggatccttgggtgt	12	11	2	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:75301816G>A	ENST00000393422.2	-	1	135	c.63C>T	c.(61-63)ctC>ctT	p.L21L	BCAR1_ENST00000418647.3_5'Flank|BCAR1_ENST00000420641.3_5'Flank|BCAR1_ENST00000538440.2_5'Flank|BCAR1_ENST00000546196.1_5'Flank|BCAR1_ENST00000535626.2_5'Flank	NM_001170715.1	NP_001164186.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	0	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACTTACTCTGAGGCAGGGAT	0.622																																																	0													27	31	30					16																	75301816		1563	3580	5143	SO:0001819	synonymous_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000393422.2:c.63C>T	16.37:g.75301816G>A			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.L21	ENST00000393422.2	37	c.63	CCDS54043.1	16																																																																																			BCAR1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.622	BCAR1-001	KNOWN	basic|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269016.2	G	NM_014567		75301816	-1	no_errors	ENST00000393422	ensembl	human	known	70_37	silent	SNP	0.000	A	A	75301816	G	A	75301816	2	1	80	1	0	0	0	0	0	0	0	1	1349	1277	45	1		1	BCAR1	16	75301816	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	2308137	75301816	15052937	95	12392										
FANCA	2175	genome.wustl.edu	37	chr16	89865582	89865582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcaggaacataccagcacctCacgatcttgtgagtggagga	11	10	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:89865582C>T	ENST00000389301.3	-	10	915	c.885G>A	c.(883-885)gtG>gtA	p.V295V	FANCA_ENST00000563673.1_Silent_p.V295V|FANCA_ENST00000568369.1_Silent_p.V295V|FANCA_ENST00000389302.3_Silent_p.V295V|FANCA_ENST00000543736.1_Silent_p.V263V|FANCA_ENST00000534992.1_Silent_p.V295V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	295					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACCAGCACCTCACGATCTTGT	0.512			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													123	110	114					16																	89865582		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.885G>A	16.37:g.89865582C>T			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	pfam_Fanconia,prints_Fanconia	p.V295	ENST00000389301.3	37	c.885	CCDS32515.1	16																																																																																			FANCA	-	NULL		0.512	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	C			89865582	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	silent	SNP	0.001	T	T	89865582	C	T	89865582	2	4	80	1	0	0	0	0	0	0	0	1	5680	813	29	1		1	FANCA	16	89865582	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	14563766	89865582	489171	96	12393										
MYH1	4619	genome.wustl.edu	37	chr17	10398362	10398362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tccaggttcttcttcatccgCtccagatgggcgctggtgtc	11	13	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:10398362C>T	ENST00000226207.5	-	37	5446	c.5352G>A	c.(5350-5352)gaG>gaA	p.E1784E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1784					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCATCCGCTCCAGATGGG	0.537																																																	0													156	150	152					17																	10398362		2203	4300	6503	SO:0001819	synonymous_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5352G>A	17.37:g.10398362C>T			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1784	ENST00000226207.5	37	c.5352	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_tail		0.537	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10398362	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10398362	C	T	10398362	2	4	80	1	0	0	0	0	0	0	0	1	10052	796	28	4		4	MYH1	17	10398362	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09		10398362	70796848	97	12394										
PSMD11	5717	genome.wustl.edu	37	chr17	30771577	30771577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gtggtggagttccagagagcCcagtctctactcagcaccga	12	12	2	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:30771577C>T	ENST00000261712.3	+	1	299	c.36C>T	c.(34-36)gcC>gcT	p.A12A	PSMD11_ENST00000457654.2_Silent_p.A12A	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TCCAGAGAGCCCAGTCTCTAC	0.716																																					Ovarian(130;1038 1716 9294 11987 19279)												0													26	25	25					17																	30771577		2200	4298	6498	SO:0001819	synonymous_variant	5717			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.36C>T	17.37:g.30771577C>T			A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.A12	ENST00000261712.3	37	c.36	CCDS11272.1	17																																																																																			PSMD11	-	NULL		0.716	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD11	HGNC	protein_coding	OTTHUMT00000256252.2	C	NM_002815		30771577	1	no_errors	ENST00000261712	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30771577	C	T	30771577	2	4	80	1	0	0	0	0	0	0	0	1	12721	610	22	4		4	PSMD11	17	30771577	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	20373215	30771577	50423633	98	12395										
RDM1	201299	genome.wustl.edu	37	chr17	34252522	34252522	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aaatctacaaggtttaccttGatgatccttttggaacaccc	6	10	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:34252522G>A	ENST00000293273.6	-	3	441	c.396C>T	c.(394-396)atC>atT	p.I132I	RDM1_ENST00000394527.1_Silent_p.I109I|RDM1_ENST00000419453.2_Silent_p.I109I|RDM1_ENST00000430160.2_Silent_p.I109I|RDM1_ENST00000394528.3_Silent_p.I132I|RDM1_ENST00000431884.2_Silent_p.I132I|RDM1_ENST00000591402.1_Silent_p.I109I|RDM1_ENST00000394529.3_Silent_p.I109I|RDM1_ENST00000425909.3_Silent_p.I132I	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	132	Necessary for nuclear and nucleolar localization.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTTTACCTTGATGATCCTTT	0.393								Other identified genes with known or suspected DNA repair function																																									0													104	101	102					17																	34252522		2203	4300	6503	SO:0001819	synonymous_variant	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.396C>T	17.37:g.34252522G>A			A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom	p.I132	ENST00000293273.6	37	c.396	CCDS11301.1	17																																																																																			RDM1	-	pfam_Rad52_Rad22		0.393	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDM1	HGNC	protein_coding	OTTHUMT00000256588.2	G	NM_145654		34252522	-1	no_errors	ENST00000293273	ensembl	human	known	70_37	silent	SNP	0.996	A	A	34252522	G	A	34252522	2	1	80	1	0	0	0	0	0	0	0	1	13227	1280	45	1		1	RDM1	17	34252522	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	3480945	34252522	46942688	99	12396										
CACNG1	786	genome.wustl.edu	37	chr17	65050167	65050167	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ggcgagagctcggagatcttCgaattcaccactcagaaggg	13	10	3	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:65050167C>T	ENST00000226021.3	+	2	356	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	95					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGGAGATCTTCGAATTCACCA	0.542																																																	0													104	103	103					17																	65050167		2203	4300	6503	SO:0001819	synonymous_variant	786			L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"Calcium channel subunits"	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.285C>T	17.37:g.65050167C>T			B2R9N3|Q14D59	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu	p.F95	ENST00000226021.3	37	c.285	CCDS11668.1	17																																																																																			CACNG1	-	pfam_PMP22/EMP/MP20/Claudin		0.542	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG1	HGNC	protein_coding	OTTHUMT00000447039.1	C			65050167	1	no_errors	ENST00000226021	ensembl	human	known	70_37	silent	SNP	0.986	T	T	65050167	C	T	65050167	2	4	80	1	0	0	0	0	0	0	0	1	2561	883	31	1		1	CACNG1	17	65050167	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	30797645	65050167	16145043	100	12397										
CARD14	79092	genome.wustl.edu	37	chr17	78176112	78176112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cattgcaacgaggtcctgcaCgtcaccgacaccatgttcca	8	15	1	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:78176112C>T	ENST00000573882.1	+	17	2648	c.2112C>T	c.(2110-2112)caC>caT	p.H704H	RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000344227.2_Silent_p.H704H|CARD14_ENST00000392434.2_Missense_Mutation_p.T425M|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000570421.1_Silent_p.H704H			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	704					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGTCCTGCACGTCACCGACA	0.622																																																	0													73	63	66					17																	78176112		2203	4300	6503	SO:0001819	synonymous_variant	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2112C>T	17.37:g.78176112C>T			B8QQJ3|Q9BVB5	Missense_Mutation	SNP	superfamily_PDZ	p.T425M	ENST00000573882.1	37	c.1274	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398845	0.11696	.	.	ENSG00000141527	ENST00000392434	T	0.16897	2.31	5.05	-8.68	0.00859	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.21445	N	0.999686	.	.	.	.	.	.	T	0.46205	-0.9208	6	0.87932	D	0	-28.1936	16.0761	0.80969	0.0:0.3243:0.0:0.6757	.	.	.	.	M	425	ENSP00000376229:T425M	ENSP00000376229:T425M	T	+	2	0	CARD14	75790707	0.001000	0.12720	0.679000	0.29978	0.580000	0.36256	-1.989000	0.01480	-1.849000	0.01171	-0.140000	0.14226	ACG	CARD14	-	NULL		0.622	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	C			78176112	1	no_errors	ENST00000392434	ensembl	human	known	70_37	missense	SNP	0.511	T	T	78176112	C	T	78176112	2	4	80	1	0	0	0	0	0	0	0	1	2651	535	19	2		2	CARD14	17	78176112	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	13125945	78176112	3019098	101	12398										
RPTOR	57521	genome.wustl.edu	37	chr17	78857241	78857241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgaacaccggaccatgacggCtttcattctcgccgtgatcg	10	13	2	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:78857241C>T	ENST00000306801.3	+	15	1969	c.1607C>T	c.(1606-1608)gCt>gTt	p.A536V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	536					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCATGACGGCTTTCATTCTC	0.567																																																	0													104	80	88					17																	78857241		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1607C>T	17.37:g.78857241C>T	ENSP00000307272:p.Ala536Val		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.A536V	ENST00000306801.3	37	c.1607	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784320	0.31593	.	.	ENSG00000141564	ENST00000306801	T	0.37752	1.18	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.145078	0.45867	D	0.000321	T	0.42426	0.1202	M	0.72118	2.19	0.80722	D	1	B	0.20671	0.047	B	0.19666	0.026	T	0.39623	-0.9605	10	0.49607	T	0.09	.	18.0463	0.89334	0.0:1.0:0.0:0.0	.	536	Q8N122	RPTOR_HUMAN	V	536	ENSP00000307272:A536V	ENSP00000307272:A536V	A	+	2	0	RPTOR	76471836	1.000000	0.71417	0.198000	0.23420	0.021000	0.10359	5.156000	0.64905	2.253000	0.74438	0.563000	0.77884	GCT	RPTOR	-	superfamily_ARM-type_fold		0.567	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	C	NM_020761		78857241	1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	0.893	T	T	78857241	C	T	78857241	3	4	80	1	0	0	0	0	1	0	0	0	13695	797	28	4	1665	4	RPTOR	17	78857241	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	681129	78857241	2337969	102	12399										
OR10H5	284433	genome.wustl.edu	37	chr19	15905236	15905236	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tacgaccgctacgtggccatCtgccaccccctgcgttacaa	8	17	1	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:15905236C>T	ENST00000308940.8	+	1	476	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACGTGGCCATCTGCCACCCCC	0.627																																																	0													131	109	117					19																	15905236		2203	4300	6503	SO:0001819	synonymous_variant	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.378C>T	19.37:g.15905236C>T			Q6IFJ0|Q96R60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I126	ENST00000308940.8	37	c.378	CCDS32940.1	19																																																																																			OR10H5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	C			15905236	1	no_errors	ENST00000308940	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15905236	C	T	15905236	2	4	80	1	0	0	0	0	0	0	0	1	10933	903	32	1		1	OR10H5	19	15905236	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09		15905236	43223747	103	12400										
SIRT2	22933	genome.wustl.edu	37	chr19	39370308	39370308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agtcaaagtccatgcctcctCcgaggcccataatcatcccc	6	17	2	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:39370308C>T	ENST00000249396.7	-	14	1212	c.911G>A	c.(910-912)gGa>gAa	p.G304E	RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank|SIRT2_ENST00000392081.2_Missense_Mutation_p.G267E|RINL_ENST00000598904.1_5'Flank|SIRT2_ENST00000358931.5_Intron	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	304	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CATGCCTCCTCCGAGGCCCAT	0.657																																																	0													15	14	14					19																	39370308		2197	4293	6490	SO:0001583	missense	22933			AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.911G>A	19.37:g.39370308C>T	ENSP00000249396:p.Gly304Glu		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.G304E	ENST00000249396.7	37	c.911	CCDS12523.1	19	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055841	0.36277	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000456703	T;T	0.17054	2.3;2.3	4.46	4.46	0.54185	.	0.159338	0.40640	N	0.001050	T	0.19604	0.0471	M	0.72479	2.2	0.80722	D	1	B;B;P	0.35628	0.104;0.063;0.513	B;B;B	0.25759	0.022;0.01;0.063	T	0.06552	-1.0820	10	0.39692	T	0.17	-16.7141	16.2896	0.82739	0.0:1.0:0.0:0.0	.	267;304;284	Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;SIRT2_HUMAN;.	E	304;267;289	ENSP00000249396:G304E;ENSP00000375931:G267E	ENSP00000249396:G304E	G	-	2	0	SIRT2	44062148	1.000000	0.71417	0.852000	0.33557	0.244000	0.25665	4.088000	0.57678	2.203000	0.70933	0.467000	0.42956	GGA	SIRT2	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom		0.657	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	HGNC	protein_coding	OTTHUMT00000318278.1	C			39370308	-1	no_errors	ENST00000249396	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39370308	C	T	39370308	3	4	80	1	0	0	0	0	1	0	0	0	14368	855	30	1	270	1	SIRT2	19	39370308	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	23465072	39370308	19758675	104	12401										
SPTBN4	57731	genome.wustl.edu	37	chr19	41008209	41008209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcacggcctattgcacgctgGagaagcctgtcaagtgaggc	13	11	2	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:41008209G>A	ENST00000352632.3	+	9	1158	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E358K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E358K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E358K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E358K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	358					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTGCACGCTGGAGAAGCCTGT	0.602																																																	0													32	36	35					19																	41008209		2203	4300	6503	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1072G>A	19.37:g.41008209G>A	ENSP00000263373:p.Glu358Lys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E358K	ENST00000352632.3	37	c.1072	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667320	0.88348	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.55588	0.51;0.51;0.51	3.42	3.42	0.39159	.	0.240641	0.25997	U	0.026964	T	0.72358	0.3450	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.967;0.991	T	0.78206	-0.2294	10	0.87932	D	0	.	14.7768	0.69736	0.0:0.0:1.0:0.0	.	358;358	Q9H254;Q71S06	SPTN4_HUMAN;.	K	358	ENSP00000263373:E358K;ENSP00000340345:E358K;ENSP00000340741:E358K	ENSP00000340345:E358K	E	+	1	0	SPTBN4	45700049	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.567000	0.98161	2.219000	0.72066	0.467000	0.42956	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41008209	1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41008209	G	A	41008209	3	1	80	1	0	0	0	0	1	0	0	0	15151	1175	41	1	1102	1	SPTBN4	19	41008209	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	1637901	41008209	18120774	105	12402										
MYH14	79784	genome.wustl.edu	37	chr19	50792782	50792782	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gaactggaggatgagctgacAgcggccgaggatgccaagct	16	9	0	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:50792782A>T	ENST00000596571.1	+	32	4719	c.4719A>T	c.(4717-4719)acA>acT	p.T1573T	MYH14_ENST00000598205.1_Silent_p.T1581T|MYH14_ENST00000262269.8_Silent_p.T1614T|MYH14_ENST00000601313.1_Silent_p.T1614T|MYH14_ENST00000376970.2_Silent_p.T1606T|MYH14_ENST00000440075.2_Silent_p.T1614T|MYH14_ENST00000425460.1_Silent_p.T1581T			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1573					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ATGAGCTGACAGCGGCCGAGG	0.607																																																	0													42	52	48					19																	50792782		2194	4289	6483	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4719A>T	19.37:g.50792782A>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1614	ENST00000596571.1	37	c.4842	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_tail,superfamily_Prefoldin		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	A	NM_024729		50792782	1	no_errors	ENST00000262269	ensembl	human	known	70_37	silent	SNP	0.993	T	T	50792782	A	T	50792782	2	4	80	1	0	0	0	0	0	0	0	1	10056	175	7	5		5	MYH14	19	50792782	Silent	SNP	A	TCGA-EA-A439-01A-11D-A243-09	9784573	50792782	8336201	106	12403										
MYBPC2	4606	genome.wustl.edu	37	chr19	50958397	50958397	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agcggaagaagaagggctctCagcgctggatgaagctgaac	15	8	1	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:50958397C>T	ENST00000357701.5	+	19	2098	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	683	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAGGGCTCTCAGCGCTGGAT	0.567																																																	0													62	65	64					19																	50958397		2024	4192	6216	SO:0001587	stop_gained	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2047C>T	19.37:g.50958397C>T	ENSP00000350332:p.Gln683*		A1L4G9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q683*	ENST00000357701.5	37	c.2047	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	38	7.000794	0.97994	.	.	ENSG00000086967	ENST00000357701	.	.	.	4.18	4.18	0.49190	.	0.491076	0.13584	U	0.377133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.5652	0.50800	0.1796:0.8204:0.0:0.0	.	.	.	.	X	683	.	ENSP00000350332:Q683X	Q	+	1	0	MYBPC2	55650209	0.000000	0.05858	0.989000	0.46669	0.981000	0.71138	0.040000	0.13905	2.069000	0.61940	0.461000	0.40582	CAG	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50958397	1	no_errors	ENST00000357701	ensembl	human	known	70_37	nonsense	SNP	0.913	T	T	50958397	C	T	50958397	4	4	80	1	0	0	0	0	0	1	0	0	10035	827	29	1	2121	1	MYBPC2	19	50958397	Nonsense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	165615	50958397	8170586	107	12404										
SIGLEC10	89790	genome.wustl.edu	37	chr19	51917047	51917047	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctgggcctcggggtttctgtCtgagtccgtctcttcggtag	14	11	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:51917047C>T	ENST00000339313.5	-	10	1856	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	SIGLEC10_ENST00000432469.2_Silent_p.Q402Q|SIGLEC10_ENST00000439889.2_Silent_p.Q522Q|SIGLEC10_ENST00000353836.5_Silent_p.Q485Q|SIGLEC10_ENST00000441969.3_Silent_p.Q427Q|SIGLEC10_ENST00000436984.2_Silent_p.Q437Q|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Silent_p.Q395Q|SIGLEC10_ENST00000442846.3_Silent_p.Q337Q|SIGLEC10_ENST00000356298.5_Silent_p.Q580Q			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	580					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGTTTCTGTCTGAGTCCGTC	0.577																																																	0													131	121	124					19																	51917047		2203	4300	6503	SO:0001819	synonymous_variant	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1740G>A	19.37:g.51917047C>T			A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q580	ENST00000339313.5	37	c.1740	CCDS12832.1	19																																																																																			SIGLEC10	-	NULL		0.577	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51917047	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	silent	SNP	0.000	T	T	51917047	C	T	51917047	2	4	80	1	0	0	0	0	0	0	0	1	14336	912	32	1		1	SIGLEC10	19	51917047	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	958650	51917047	7211936	108	12405										
CNOT3	4849	genome.wustl.edu	37	chr19	54649372	54649372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ggcttgaagcggcacatcgaGaagcaccgctaccacgtgcg	13	13	0	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:54649372G>C	ENST00000406403.1	+	7	2125	c.522G>C	c.(520-522)gaG>gaC	p.E174D	CNOT3_ENST00000221232.5_Missense_Mutation_p.E174D|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	174					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCACATCGAGAAGCACCGCT	0.627																																																	0													131	88	103					19																	54649372		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.522G>C	19.37:g.54649372G>C	ENSP00000383954:p.Glu174Asp		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E174D	ENST00000406403.1	37	c.522	CCDS12880.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.439613|3.439613	0.63067|0.63067	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000406403|ENST00000440571	T;T|.	0.51817|.	0.69;0.69|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Not CCR4-Not complex component, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62208|0.62208	0.2409|0.2409	L|L	0.42487|0.42487	1.325|1.325	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.992;0.992;0.999|.	D;D;D|.	0.80764|.	0.989;0.989;0.994|.	T|T	0.58200|0.58200	-0.7678|-0.7678	10|5	0.19147|.	T|.	0.46|.	-34.3047|-34.3047	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174;174;98|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	D|T	174|96	ENSP00000221232:E174D;ENSP00000383954:E174D|.	ENSP00000221232:E174D|.	E|R	+|+	3|2	2|0	CNOT3|CNOT3	59341184|59341184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.419000|4.419000	0.59835|0.59835	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GAG|AGA	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5		0.627	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	G	NM_014516		54649372	1	no_errors	ENST00000221232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54649372	G	C	54649372	3	2	80	1	0	0	0	0	1	0	0	0	3625	933	33	1	548	1	CNOT3	19	54649372	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	2732325	54649372	4479611	109	12406										
SUV420H2	84787	genome.wustl.edu	37	chr19	55858727	55858727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ctgatcccgaagcaggccctCgccttcgcccccttctcccc	7	22	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:55858727C>T	ENST00000255613.3	+	9	1547	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	433	Required for heterochromatin localization. {ECO:0000250}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCAGGCCCTCGCCTTCGCCC	0.697																																																	0													7	7	7					19																	55858727		2162	4249	6411	SO:0001819	synonymous_variant	84787			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.1299C>T	19.37:g.55858727C>T			Q8WZ10|Q9BRZ6	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L433	ENST00000255613.3	37	c.1299	CCDS12922.1	19																																																																																			SUV420H2	-	NULL		0.697	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	C	NM_032701		55858727	1	no_errors	ENST00000255613	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55858727	C	T	55858727	2	4	80	1	0	0	0	0	0	0	0	1	15445	871	31	1		1	SUV420H2	19	55858727	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	1209355	55858727	3270256	110	12407										
ZNF581	51545	genome.wustl.edu	37	chr19	56156266	56156266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gcgacacagcatcacccactCggaggtaaagcccttcgagt	10	14	1	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:56156266C>G	ENST00000587252.1	+	2	602	c.329C>G	c.(328-330)tCg>tGg	p.S110W	ZNF581_ENST00000588537.1_Missense_Mutation_p.S110W|ZNF581_ENST00000270451.5_Missense_Mutation_p.S110W			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ATCACCCACTCGGAGGTAAAG	0.602																																																	0													71	65	67					19																	56156266		2203	4300	6503	SO:0001583	missense	51545			AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"Zinc fingers, C2H2-type"	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.329C>G	19.37:g.56156266C>G	ENSP00000466047:p.Ser110Trp		B2RDM6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S110W	ENST00000587252.1	37	c.329	CCDS12932.1	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084339	0.76642	.	.	ENSG00000171425	ENST00000270451	T	0.20069	2.1	4.27	3.2	0.36748	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50154	0.1599	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59306	-0.7479	9	0.87932	D	0	.	11.8326	0.52305	0.0:0.9095:0.0:0.0904	.	110	Q9P0T4	ZN581_HUMAN	W	110	ENSP00000270451:S110W	ENSP00000270451:S110W	S	+	2	0	ZNF581	60848078	0.709000	0.27886	0.521000	0.27850	0.965000	0.64279	1.618000	0.36954	1.132000	0.42129	0.407000	0.27541	TCG	ZNF581	-	pfscan_Znf_C2H2		0.602	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF581	HGNC	protein_coding	OTTHUMT00000453430.1	C	NM_016535		56156266	1	no_errors	ENST00000270451	ensembl	human	known	70_37	missense	SNP	0.988	G	G	56156266	C	G	56156266	3	3	80	1	0	0	0	0	1	0	0	0	18043	893	31	1	331	1	ZNF581	19	56156266	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	297539	56156266	2972717	111	12408										
C20orf196	149840	genome.wustl.edu	37	chr20	5753576	5753576	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cagtgctttggacctgccatCagcgtgtgacataagagatt	11	9	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:5753576C>T	ENST00000303142.6	+	2	152	c.65C>T	c.(64-66)tCa>tTa	p.S22L	C20orf196_ENST00000378979.4_Missense_Mutation_p.S22L	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	22										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GACCTGCCATCAGCGTGTGAC	0.493																																																	0													130	122	125					20																	5753576		2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.65C>T	20.37:g.5753576C>T	ENSP00000305875:p.Ser22Leu		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.S22L	ENST00000303142.6	37	c.65	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081457	0.20309	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.81	3.84	0.44239	.	0.692660	0.12649	N	0.450597	T	0.47414	0.1444	L	0.45581	1.43	0.09310	N	1	B	0.21225	0.053	B	0.27262	0.078	T	0.44832	-0.9302	10	0.54805	T	0.06	-5.9757	9.6019	0.39609	0.0:0.8323:0.0:0.1677	.	22	Q8IYI0	CT196_HUMAN	L	22;22;22;22;69;69	ENSP00000368263:S22L;ENSP00000305875:S22L;ENSP00000399331:S22L;ENSP00000410534:S69L	ENSP00000305875:S22L	S	+	2	0	C20orf196	5701576	0.002000	0.14202	0.005000	0.12908	0.074000	0.17049	1.516000	0.35856	1.429000	0.47314	0.650000	0.86243	TCA	C20orf196	-	NULL		0.493	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2	C	NM_152504		5753576	1	no_errors	ENST00000303142	ensembl	human	known	70_37	missense	SNP	0.002	T	T	5753576	C	T	5753576	3	4	80	1	0	0	0	0	1	0	0	0	2106	838	29	1	67	1	C20orf196	20	5753576	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		5753576	57271944	112	12409										
RAE1	8480	genome.wustl.edu	37	chr20	55931505	55931505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tttttttgttactacaggttCgctgctgggaagttcaagac	10	7	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:55931505C>T	ENST00000395841.2	+	4	619	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	RAE1_ENST00000527947.1_Missense_Mutation_p.R67C|RAE1_ENST00000371242.2_Missense_Mutation_p.R67C|RAE1_ENST00000395840.2_Missense_Mutation_p.R67C	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	67					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTACAGGTTCGCTGCTGGGA	0.438																																																	0													126	112	117					20																	55931505		2203	4300	6503	SO:0001583	missense	8480			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.199C>T	20.37:g.55931505C>T	ENSP00000379182:p.Arg67Cys		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R67C	ENST00000395841.2	37	c.199	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816157	0.90790	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000411894;ENST00000429339;ENST00000395840;ENST00000452119	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.91	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.928;0.994	D	0.90522	0.4489	10	0.87932	D	0	-20.4011	14.3884	0.66961	0.0:0.9293:0.0:0.0707	.	67;67	E9PQ57;P78406	.;RAE1L_HUMAN	C	67	ENSP00000379182:R67C;ENSP00000360286:R67C;ENSP00000432609:R67C;ENSP00000392097:R67C;ENSP00000393264:R67C;ENSP00000379181:R67C;ENSP00000402924:R67C	ENSP00000360286:R67C	R	+	1	0	RAE1	55364912	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.671000	0.68095	1.502000	0.48669	0.655000	0.94253	CGC	RAE1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.438	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	C			55931505	1	no_errors	ENST00000371242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55931505	C	T	55931505	3	4	80	1	0	0	0	0	1	0	0	0	13028	884	31	1	209	1	RAE1	20	55931505	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	50177929	55931505	7094015	113	12410										
DIDO1	11083	genome.wustl.edu	37	chr20	61511181	61511181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cgcggagggcggcccggcctCctcccagcggtccttccggt	15	18	0	0			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:61511181C>T	ENST00000266070.4	-	16	6452	c.6127G>A	c.(6127-6129)Gag>Aag	p.E2043K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2043K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2043					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCCCGGCCTCCTCCCAGCGG	0.741																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													29	36	33					20																	61511181		1986	3914	5900	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6127G>A	20.37:g.61511181C>T	ENSP00000266070:p.Glu2043Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E2043K	ENST00000266070.4	37	c.6127	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638611	0.29157	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09350	2.99;2.99	4.96	4.96	0.65561	.	0.000000	0.43579	D	0.000555	T	0.09379	0.0231	L	0.39633	1.23	0.32275	N	0.568386	B	0.21905	0.062	B	0.16289	0.015	T	0.08289	-1.0729	10	0.19590	T	0.45	-8.2934	11.6844	0.51476	0.0:0.9179:0.0:0.0821	.	2043	Q9BTC0	DIDO1_HUMAN	K	2043	ENSP00000266070:E2043K;ENSP00000378752:E2043K	ENSP00000266070:E2043K	E	-	1	0	DIDO1	60981626	0.983000	0.35010	0.180000	0.23079	0.332000	0.28634	3.430000	0.52807	2.292000	0.77174	0.561000	0.74099	GAG	DIDO1	-	NULL		0.741	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61511181	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.066	T	T	61511181	C	T	61511181	3	4	80	1	0	0	0	0	1	0	0	0	4532	864	30	1	599	1	DIDO1	20	61511181	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	5579676	61511181	1514339	114	12411										
TPTE	7179	genome.wustl.edu	37	chr21	10942925	10942927	+	In_Frame_Del	DEL	CTT	CTT	-													0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgttttgcccacttacccgcCttcttatcagcttttcaagt					rs113444703|rs386816290|rs3047743|rs558478158		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr21:10942925_10942927delCTT	ENST00000361285.4	-	12	989_991	c.660_662delAAG	c.(658-663)agaagg>agg	p.220_221RR>R	TPTE_ENST00000342420.5_In_Frame_Del_p.182_183RR>R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_In_Frame_Del_p.202_203RR>R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	220					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTACCCGCCTTCTTATCAGCT	0.32																																																	0																																										SO:0001651	inframe_deletion	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.660_662delAAG	21.37:g.10942928_10942930delCTT	ENSP00000355208:p.Arg222del		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	In_Frame_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R222in_frame_del	ENST00000361285.4	37	c.662_660	CCDS13560.2	21																																																																																			TPTE	-	NULL		0.32	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	CTT			10942927	-1	no_errors	ENST00000361285	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	10942927	CTT	-	10942925	7	5	80	1	0	1	0	1	0	0	0	0	16461	681	24	0	1045	0	TPTE	21	10942925	In_Frame_Del	DEL	CTT	TCGA-EA-A439-01A-11D-A243-09		10942925	37186970	115	12412										
BACE2	25825	genome.wustl.edu	37	chr21	42598208	42598208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	aaaagctacagattctcgttGacactggaagcagtaacttt	8	8	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr21:42598208G>T	ENST00000330333.6	+	2	791	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	BACE2_ENST00000328735.6_Missense_Mutation_p.D110Y|BACE2_ENST00000347667.5_Missense_Mutation_p.D110Y	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	110					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GATTCTCGTTGACACTGGAAG	0.403																																																	0													93	92	92					21																	42598208		2203	4300	6503	SO:0001583	missense	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.328G>T	21.37:g.42598208G>T	ENSP00000332979:p.Asp110Tyr		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1	p.D110Y	ENST00000330333.6	37	c.328	CCDS13668.1	21	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258527	0.59321	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	D;D;D	0.82619	-1.63;-1.63;-1.63	4.74	4.74	0.60224	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95460	0.8542	10	0.87932	D	0	.	14.4389	0.67301	0.0:0.0:1.0:0.0	.	110;110;110	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	Y	110;110;110;15	ENSP00000332979:D110Y;ENSP00000327528:D110Y;ENSP00000333854:D110Y	ENSP00000333854:D110Y	D	+	1	0	BACE2	41520078	1.000000	0.71417	0.909000	0.35828	0.753000	0.42808	5.460000	0.66691	2.181000	0.69327	0.462000	0.41574	GAC	BACE2	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1		0.403	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	G			42598208	1	no_errors	ENST00000330333	ensembl	human	known	70_37	missense	SNP	0.986	T	T	42598208	G	T	42598208	3	4	80	1	0	0	0	0	1	0	0	0	1283	1290	45	3	334	3	BACE2	21	42598208	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	31655283	42598208	5531687	116	12413										
TUBA8	51807	genome.wustl.edu	37	chr22	18609626	18609626	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tgtggccgagataaccagctCctgctttgagcccaacagcc	10	14	0	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:18609626C>G	ENST00000330423.3	+	4	954	c.881C>G	c.(880-882)tCc>tGc	p.S294C	TUBA8_ENST00000316027.6_Missense_Mutation_p.S228C	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	294					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						ATAACCAGCTCCTGCTTTGAG	0.602																																																	0													114	94	101					22																	18609626		2203	4300	6503	SO:0001583	missense	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.881C>G	22.37:g.18609626C>G	ENSP00000333326:p.Ser294Cys		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S294C	ENST00000330423.3	37	c.881	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	14.95	2.688276	0.48097	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84660	-1.88;-1.88;-1.88	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.177273	0.50627	D	0.000104	D	0.94262	0.8157	H	0.96970	3.915	0.54753	D	0.999984	P;P;P	0.47677	0.868;0.868;0.899	P;P;P	0.54856	0.72;0.762;0.676	D	0.95501	0.8577	10	0.87932	D	0	.	19.1191	0.93355	0.0:1.0:0.0:0.0	.	228;318;294	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	C	228;294;318	ENSP00000318575:S228C;ENSP00000333326:S294C;ENSP00000412646:S318C	ENSP00000318575:S228C	S	+	2	0	TUBA8	16989626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.837000	0.97791	0.655000	0.94253	TCC	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom		0.602	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	C	NM_018943		18609626	1	no_errors	ENST00000330423	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18609626	C	G	18609626	3	3	80	1	0	0	0	0	1	0	0	0	16781	855	30	1	895	1	TUBA8	22	18609626	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09		18609626	32694940	117	12414										
SNAP29	9342	genome.wustl.edu	37	chr22	21237835	21237835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	ccacaccttcgagcctatcaCcagaagatcgacagcaacct	6	16	1	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:21237835C>T	ENST00000215730.7	+	4	725	c.597C>T	c.(595-597)caC>caT	p.H199H		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	199	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGCCTATCACCAGAAGATCG	0.532																																																	0													235	206	216					22																	21237835		2203	4300	6503	SO:0001819	synonymous_variant	9342			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.597C>T	22.37:g.21237835C>T				Silent	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.H199	ENST00000215730.7	37	c.597	CCDS13784.1	22																																																																																			SNAP29	-	smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP29	HGNC	protein_coding	OTTHUMT00000320000.4	C	NM_004782		21237835	1	no_errors	ENST00000215730	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21237835	C	T	21237835	2	4	80	1	0	0	0	0	0	0	0	1	14861	506	18	4		4	SNAP29	22	21237835	Silent	SNP	C	TCGA-EA-A439-01A-11D-A243-09	2628209	21237835	30066731	118	12415										
GAL3ST1	9514	genome.wustl.edu	37	chr22	30951193	30951193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cgatgcagatggtccgcatgCgctcgttggcatggcgcagg	16	11	0	1	rs150519649		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:30951193C>T	ENST00000402321.1	-	3	1336	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R340H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R340H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	340					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGTCCGCATGCGCTCGTTGGC	0.711													C|||	1	0.000199681	0	0.0014	5008	,	,		15117	0		0	False		,,,				2504	0																0													22	23	23					22																	30951193		2200	4289	6489	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1019G>A	22.37:g.30951193C>T	ENSP00000385735:p.Arg340His		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R340H	ENST00000402321.1	37	c.1019	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529944	0.45073	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.55	2.34	0.29019	.	0.395415	0.29113	N	0.013101	T	0.14356	0.0347	L	0.46947	1.48	0.80722	D	1	B	0.12013	0.005	B	0.12837	0.008	T	0.05683	-1.0870	10	0.48119	T	0.1	-16.6481	7.6478	0.28331	0.0:0.5484:0.0:0.4516	.	340	Q99999	G3ST1_HUMAN	H	340	ENSP00000385825:R340H;ENSP00000385735:R340H;ENSP00000384122:R340H;ENSP00000384388:R340H;ENSP00000343234:R340H;ENSP00000385207:R340H;ENSP00000402587:R340H	ENSP00000343234:R340H	R	-	2	0	GAL3ST1	29281193	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.527000	0.35975	0.308000	0.22923	0.561000	0.74099	CGC	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	C	NM_004861		30951193	-1	no_errors	ENST00000338911	ensembl	human	known	70_37	missense	SNP	0.991	T	T	30951193	C	T	30951193	3	4	80	1	0	0	0	0	1	0	0	0	6216	768	27	2	256	2	GAL3ST1	22	30951193	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	9713358	30951193	20353373	119	12416										
CLCN4	1183	genome.wustl.edu	37	chrX	10181774	10181774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tcatcatgtttgaattaaccGggggtctggagtacatcgtg	12	7	3	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:10181774G>A	ENST00000380833.4	+	11	2021	c.1630G>A	c.(1630-1632)Ggg>Agg	p.G544R	CLCN4_ENST00000421085.2_Missense_Mutation_p.G450R|CLCN4_ENST00000380829.1_Missense_Mutation_p.G513R|AC003666.1_ENST00000410201.1_RNA	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G544W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAATTAACCGGGGGTCTGGA	0.552																																					Melanoma(74;1050 1296 1576 30544 38374)												1	Substitution - Missense(1)	lung(1)											107	101	103					X																	10181774		2203	4300	6503	SO:0001583	missense	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1630G>A	X.37:g.10181774G>A	ENSP00000370213:p.Gly544Arg		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.G544R	ENST00000380833.4	37	c.1630	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784364	0.90282	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94828	-3.53;-3.53;-3.53	5.4	5.4	0.78164	Chloride channel, core (2);	0.096472	0.64402	D	0.000001	D	0.97901	0.9310	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98945	1.0792	10	0.87932	D	0	-25.6632	18.3217	0.90241	0.0:0.0:1.0:0.0	.	544	P51793	CLCN4_HUMAN	R	544;513;450	ENSP00000370213:G544R;ENSP00000370209:G513R;ENSP00000405754:G450R	ENSP00000370209:G513R	G	+	1	0	CLCN4	10141774	1.000000	0.71417	0.057000	0.19452	0.955000	0.61496	9.667000	0.98616	2.267000	0.75376	0.600000	0.82982	GGG	CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.552	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	G			10181774	1	no_errors	ENST00000380833	ensembl	human	known	70_37	missense	SNP	0.999	A	A	10181774	G	A	10181774	3	1	80	1	0	0	0	0	1	0	0	0	3470	1116	39	2	1664	2	CLCN4	23	10181774	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09		10181774	145088786	120	12417										
FRMPD4	9758	genome.wustl.edu	37	chrX	12734605	12734605	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tggctatgaaacgctactagAtgagggtcctgaaatgctgg	13	7	0	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:12734605A>T	ENST00000380682.1	+	15	2533	c.2027A>T	c.(2026-2028)gAt>gTt	p.D676V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	676					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACGCTACTAGATGAGGGTCCT	0.498																																																	0													152	163	159					X																	12734605		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2027A>T	X.37:g.12734605A>T	ENSP00000370057:p.Asp676Val		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.D676V	ENST00000380682.1	37	c.2027	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487123	0.63962	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.35236	1.32	5.86	4.7	0.59300	.	0.221201	0.45361	D	0.000367	T	0.45013	0.1321	M	0.65975	2.015	0.49915	D	0.999835	P;P	0.48589	0.912;0.912	P;P	0.48901	0.594;0.594	T	0.43442	-0.9391	10	0.87932	D	0	-22.3105	10.9108	0.47108	0.9262:0.0:0.0738:0.0	.	668;676	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	676;667;665	ENSP00000370057:D676V	ENSP00000304583:D665V	D	+	2	0	FRMPD4	12644526	1.000000	0.71417	0.025000	0.17156	0.797000	0.45037	7.071000	0.76770	0.839000	0.34971	0.486000	0.48141	GAT	FRMPD4	-	NULL		0.498	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	A	XM_045712		12734605	1	no_errors	ENST00000380682	ensembl	human	known	70_37	missense	SNP	0.995	T	T	12734605	A	T	12734605	3	4	80	1	0	0	0	0	1	0	0	0	6077	333	12	5	2085	5	FRMPD4	23	12734605	Missense_Mutation	SNP	A	TCGA-EA-A439-01A-11D-A243-09	2552831	12734605	142535955	121	12418										
NHS	4810	genome.wustl.edu	37	chrX	17743568	17743568	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tatccggaaccagggactctGagtgccaaaccgaggatatt	11	10	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:17743568G>C	ENST00000380060.3	+	6	1617	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	NHS_ENST00000398097.3_Missense_Mutation_p.E271Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	448					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGGGACTCTGAGTGCCAAAC	0.502																																																	0													215	197	203					X																	17743568		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1279G>C	X.37:g.17743568G>C	ENSP00000369400:p.Glu427Gln		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.E427Q	ENST00000380060.3	37	c.1279	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313860	0.60414	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.47528	0.84;0.86	5.88	5.88	0.94601	.	0.094038	0.64402	D	0.000001	T	0.66489	0.2794	L	0.60455	1.87	0.52501	D	0.999956	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.961;0.961;0.961;0.997	T	0.61347	-0.7081	10	0.31617	T	0.26	-11.7346	19.1532	0.93499	0.0:0.0:1.0:0.0	.	448;269;271;427	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	427;271;269	ENSP00000369400:E427Q;ENSP00000381170:E271Q	ENSP00000369397:E269Q	E	+	1	0	NHS	17653489	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	9.230000	0.95299	2.474000	0.83562	0.600000	0.82982	GAG	NHS	-	NULL		0.502	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17743568	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17743568	G	C	17743568	3	2	80	1	0	0	0	0	1	0	0	0	10435	1291	45	1	1406	1	NHS	23	17743568	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	5008963	17743568	137526992	122	12419										
PDK3	5165	genome.wustl.edu	37	chrX	24552121	24552121	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gccattacaagaccacgcctGaagccgatgattggagcaat	10	11	0	3			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:24552121G>A	ENST00000379162.4	+	11	1388	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PDK3_ENST00000441463.2_Missense_Mutation_p.E385K	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	385					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GACCACGCCTGAAGCCGATGA	0.408																																																	0													74	63	67					X																	24552121		2203	4300	6503	SO:0001583	missense	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1153G>A	X.37:g.24552121G>A	ENSP00000368460:p.Glu385Lys		B4DXG6	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E385K	ENST00000379162.4	37	c.1153	CCDS14212.1	X	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883870	0.72410	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.43294	0.95;0.95	5.35	5.35	0.76521	.	0.146358	0.64402	D	0.000010	T	0.46521	0.1397	M	0.72118	2.19	0.58432	D	0.999999	B;B	0.13145	0.007;0.005	B;B	0.14023	0.01;0.01	T	0.38993	-0.9635	10	0.38643	T	0.18	-20.3676	18.1546	0.89687	0.0:0.0:1.0:0.0	.	385;385	B4DXG6;Q15120	.;PDK3_HUMAN	K	385	ENSP00000368460:E385K;ENSP00000387536:E385K	ENSP00000368460:E385K	E	+	1	0	PDK3	24462042	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.263000	0.95617	2.480000	0.83734	0.600000	0.82982	GAA	PDK3	-	NULL		0.408	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	G	NM_005391		24552121	1	no_errors	ENST00000441463	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24552121	G	A	24552121	3	1	80	1	0	0	0	0	1	0	0	0	11701	1291	45	1	1195	1	PDK3	23	24552121	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	6808553	24552121	130718439	123	12420										
FAM47B	170062	genome.wustl.edu	37	chrX	34962465	34962465	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gaaggcaaacgagtgtgcttCaaggctgatgtacggcatgg	15	7	1	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:34962465C>G	ENST00000329357.5	+	1	1553	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	506										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGTGTGCTTCAAGGCTGATG	0.478																																																	0													112	101	105					X																	34962465		2202	4300	6502	SO:0001587	stop_gained	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1517C>G	X.37:g.34962465C>G	ENSP00000328307:p.Ser506*		Q5JQN5|Q6PIG3	Nonsense_Mutation	SNP	NULL	p.S506*	ENST00000329357.5	37	c.1517	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154024	0.38021	.	.	ENSG00000189132	ENST00000329357	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	.	.	.	.	.	.	.	X	506	.	ENSP00000328307:S506X	S	+	2	0	FAM47B	34872386	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.303000	0.19210	0.288000	0.22398	0.292000	0.19580	TCA	FAM47B	-	NULL		0.478	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	C	NM_152631		34962465	1	no_errors	ENST00000329357	ensembl	human	known	70_37	nonsense	SNP	0.003	G	G	34962465	C	G	34962465	4	3	80	1	0	0	0	0	0	1	0	0	5588	838	29	1	1519	1	FAM47B	23	34962465	Nonsense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	10410344	34962465	120308095	124	12421										
USP9X	8239	genome.wustl.edu	37	chrX	41075524	41075524	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	atcgctggtataaatttgatGatggtgatgtaacagaatgt	11	3	0	4			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:41075524G>A	ENST00000324545.8	+	35	6337	c.5704G>A	c.(5704-5706)Gat>Aat	p.D1902N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1902N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1902	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAATTTGATGATGGTGATGT	0.408																																					Ovarian(172;1807 2695 35459 49286)												0													104	105	105					X																	41075524		2200	4300	6500	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5704G>A	X.37:g.41075524G>A	ENSP00000316357:p.Asp1902Asn		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D1902N	ENST00000324545.8	37	c.5704	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828638	0.90955	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.48522	0.81;0.81	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90542	0.4503	10	0.87932	D	0	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1902;1902	Q93008-1;Q93008	.;USP9X_HUMAN	N	1902	ENSP00000367558:D1902N;ENSP00000316357:D1902N	ENSP00000316357:D1902N	D	+	1	0	USP9X	40960468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.439000	0.82584	0.544000	0.68410	GAT	USP9X	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41075524	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41075524	G	A	41075524	3	1	80	1	0	0	0	0	1	0	0	0	17121	1290	45	1	5838	1	USP9X	23	41075524	Missense_Mutation	SNP	G	TCGA-EA-A439-01A-11D-A243-09	6113059	41075524	114195036	125	12422										
SLC16A2	6567	genome.wustl.edu	37	chrX	73740862	73740862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gcgatgggtatgatcttcttCtgttctcccattgtgagtat	10	8	4	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:73740862C>G	ENST00000587091.1	+	2	645	c.468C>G	c.(466-468)ttC>ttG	p.F156L	SLC16A2_ENST00000276033.5_Missense_Mutation_p.F230L	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	156			Missing (in MCT8 deficiency). {ECO:0000269|PubMed:15889350}.		monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGATCTTCTTCTGTTCTCCCA	0.527																																																	0													160	137	145					X																	73740862		2203	4300	6503	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.468C>G	X.37:g.73740862C>G	ENSP00000465734:p.Phe156Leu		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F230L	ENST00000587091.1	37	c.690	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912702	0.33721	.	.	ENSG00000147100	ENST00000276033	T	0.54479	0.57	5.58	4.68	0.58851	Major facilitator superfamily domain, general substrate transporter (1);	0.148471	0.64402	D	0.000008	T	0.35248	0.0925	N	0.21142	0.635	0.50039	D	0.999846	B	0.06786	0.001	B	0.17979	0.02	T	0.14200	-1.0481	10	0.12766	T	0.61	.	11.174	0.48588	0.0:0.7767:0.1413:0.082	.	156	P36021	MOT8_HUMAN	L	230	ENSP00000276033:F230L	ENSP00000276033:F230L	F	+	3	2	SLC16A2	73657587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.692000	0.61746	2.340000	0.79590	0.597000	0.82753	TTC	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.527	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	C			73740862	1	no_errors	ENST00000276033	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73740862	C	G	73740862	3	3	80	1	0	0	0	0	1	0	0	0	14438	912	32	1	696	1	SLC16A2	23	73740862	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	32665338	73740862	81529698	126	12423										
ATRX	546	genome.wustl.edu	37	chrX	76949326	76949326	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	tatttacctccgcgttttttGagattttcagttttcatttt	5	7	2	1	rs398123424		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:76949326G>A	ENST00000373344.5	-	6	685	c.471C>T	c.(469-471)ctC>ctT	p.L157L	ATRX_ENST00000395603.3_Intron|ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CGCGTTTTTTGAGATTTTCAG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											151	132	138					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>T	X.37:g.76949326G>A			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L157	ENST00000373344.5	37	c.471	CCDS14434.1	X																																																																																			ATRX	-	NULL		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76949326	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76949326	G	A	76949326	2	1	80	1	0	0	0	0	0	0	0	1	1209	1277	45	1		1	ATRX	23	76949326	Silent	SNP	G	TCGA-EA-A439-01A-11D-A243-09	3208464	76949326	78321234	127	12424										
ZNF711	7552	genome.wustl.edu	37	chrX	84526709	84526709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	cagatgcatctggctttaaaCgacatgtgatatcaatacat	7	8	2	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:84526709C>T	ENST00000373165.3	+	9	2467	c.2161C>T	c.(2161-2163)Cga>Tga	p.R721*	ZNF711_ENST00000276123.3_Nonsense_Mutation_p.R721*|ZNF711_ENST00000542798.1_Nonsense_Mutation_p.R563*|ZNF711_ENST00000360700.4_Nonsense_Mutation_p.R767*|ZNF711_ENST00000395402.1_Nonsense_Mutation_p.R729*	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	721					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGCTTTAAACGACATGTGAT	0.363																																																	0													104	91	96					X																	84526709		2202	4299	6501	SO:0001587	stop_gained	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2161C>T	X.37:g.84526709C>T	ENSP00000362260:p.Arg721*		B4DSV4|Q6NX42|Q9Y4J6	Nonsense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R729*	ENST00000373165.3	37	c.2185	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.803259	0.98960	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	.	.	.	4.51	4.51	0.55191	.	0.000000	0.35207	N	0.003376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5716	11.9883	0.53161	0.1731:0.8269:0.0:0.0	.	.	.	.	X	729;721;721;767;563	.	ENSP00000276123:R721X	R	+	1	2	ZNF711	84413365	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.659000	0.68010	1.970000	0.57323	0.506000	0.49869	CGA	ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	C	NM_021998		84526709	1	no_errors	ENST00000395402	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	84526709	C	T	84526709	4	4	80	1	0	0	0	0	0	1	0	0	18146	528	19	2	2187	2	ZNF711	23	84526709	Nonsense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	7577383	84526709	70743851	128	12425										
RGAG1	57529	genome.wustl.edu	37	chrX	109696640	109696640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	agagttaatgagagcttcagCctctggacatatgtccactg	10	9	2	2			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:109696640C>A	ENST00000465301.2	+	3	3041	c.2795C>A	c.(2794-2796)gCc>gAc	p.A932D	RGAG1_ENST00000540313.1_Missense_Mutation_p.A932D	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	932										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGCTTCAGCCTCTGGACAT	0.527																																																	0													103	105	104					X																	109696640		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2795C>A	X.37:g.109696640C>A	ENSP00000419786:p.Ala932Asp		Q9P2M8	Missense_Mutation	SNP	NULL	p.A932D	ENST00000465301.2	37	c.2795	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806736	0.31961	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.54675	0.56;0.56	3.45	-0.488	0.12056	.	.	.	.	.	T	0.46092	0.1375	L	0.59436	1.845	0.09310	N	1	P	0.52061	0.95	P	0.45099	0.469	T	0.35574	-0.9783	8	.	.	.	-0.027	4.4497	0.11614	0.0:0.4845:0.1727:0.3428	.	932	Q8NET4	RGAG1_HUMAN	D	932	ENSP00000419786:A932D;ENSP00000441452:A932D	.	A	+	2	0	RGAG1	109583296	0.698000	0.27777	0.008000	0.14137	0.818000	0.46254	0.118000	0.15605	-0.256000	0.09473	0.466000	0.42574	GCC	RGAG1	-	NULL		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696640	1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.020	A	A	109696640	C	A	109696640	3	1	80	1	0	0	0	0	1	0	0	0	13304	739	26	4	2797	4	RGAG1	23	109696640	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	25169931	109696640	45573920	129	12426										
C1GALT1C1	29071	genome.wustl.edu	37	chrX	119760183	119760183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.353846153846154	46	5.53733631162188e-12	3.00702498821311	5.08434176751008	2.28795379537954	0.311534625307326	0.563792808707049	31	gcatctgatttggagtcagtCcattaaaagtaacagccata	8	8	2	1			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:119760183C>A	ENST00000304661.5	-	2	1077	c.839G>T	c.(838-840)gGa>gTa	p.G280V	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.G280V	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	280					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TGGAGTCAGTCCATTAAAAGT	0.403																																																	0													169	144	152					X																	119760183		2203	4300	6503	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.839G>T	X.37:g.119760183C>A	ENSP00000304364:p.Gly280Val		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.G280V	ENST00000304661.5	37	c.839	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425249	0.43020	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.42131	0.98;0.98	5.46	4.59	0.56863	.	0.052914	0.85682	D	0.000000	T	0.44350	0.1289	M	0.67953	2.075	0.80722	D	1	P	0.36222	0.544	B	0.39339	0.297	T	0.39461	-0.9613	9	.	.	.	-14.3497	13.1699	0.59591	0.0:0.9164:0.0:0.0836	.	280	Q96EU7	C1GLC_HUMAN	V	280	ENSP00000304364:G280V;ENSP00000360363:G280V	.	G	-	2	0	C1GALT1C1	119644211	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.668000	0.54554	2.406000	0.81754	0.544000	0.68410	GGA	C1GALT1C1	-	NULL		0.403	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	C	NM_152692		119760183	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119760183	C	A	119760183	3	1	80	1	0	0	0	0	1	0	0	0	1958	855	30	3	121	3	C1GALT1C1	23	119760183	Missense_Mutation	SNP	C	TCGA-EA-A439-01A-11D-A243-09	10063543	119760183	35510377	130	12427										
EXOSC10	5394	genome.wustl.edu	37	chr1	11126779	11126779	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cacgtgtcttccaggactatCtctgtggccagttgtacctg	10	12	2	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:11126779C>G	ENST00000376936.4	-	25	2703	c.2654G>C	c.(2653-2655)aGa>aCa	p.R885T	EXOSC10_ENST00000304457.7_Missense_Mutation_p.R860T|EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	885					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCAGGACTATCTCTGTGGCCA	0.443																																					Colon(179;105 1987 14326 27364 29542)												0													89	90	90					1																	11126779		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2654G>C	1.37:g.11126779C>G	ENSP00000366135:p.Arg885Thr		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.R885T	ENST00000376936.4	37	c.2654	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642754	0.87859	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.71293	-0.4636	9	0.87932	D	0	.	16.0161	0.80441	0.0:1.0:0.0:0.0	.	860;885	Q01780-2;Q01780	.;EXOSX_HUMAN	T	885;860	.	ENSP00000307307:R860T	R	-	2	0	EXOSC10	11049366	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.751000	0.68720	2.453000	0.82957	0.655000	0.94253	AGA	EXOSC10	-	NULL		0.443	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	C	NM_001001998		11126779	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11126779	C	G	11126779	3	3	81	1	0	0	0	0	1	0	0	0	5326	913	32	1	7	1	EXOSC10	1	11126779	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		11126779	238123842	1	12428										
GRHL3	57822	genome.wustl.edu	37	chr1	24668628	24668628	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttcatcggcgtaaactgtctGagcacagacttttcctcaca	7	12	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:24668628G>C	ENST00000350501.5	+	9	1198	c.1071G>C	c.(1069-1071)ctG>ctC	p.L357L	GRHL3_ENST00000236255.4_Silent_p.L362L|GRHL3_ENST00000361548.4_Silent_p.L357L|GRHL3_ENST00000342072.4_Silent_p.L264L|GRHL3_ENST00000356046.2_Silent_p.L311L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	357					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAACTGTCTGAGCACAGACT	0.587																																																	0													112	114	113					1																	24668628		2203	4300	6503	SO:0001819	synonymous_variant	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1071G>C	1.37:g.24668628G>C			A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L357	ENST00000350501.5	37	c.1071	CCDS252.2	1																																																																																			GRHL3	-	pfam_CP2		0.587	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	G	NM_021180		24668628	1	no_errors	ENST00000350501	ensembl	human	known	70_37	silent	SNP	1.000	C	C	24668628	G	C	24668628	2	2	81	1	0	0	0	0	0	0	0	1	6785	1277	45	1		1	GRHL3	1	24668628	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	13541849	24668628	224581993	2	12429										
COL16A1	1307	genome.wustl.edu	37	chr1	32162848	32162848	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggtaaaatctcacagcagccCtcctccagcacgagctccgg	9	16	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:32162848C>G	ENST00000373672.3	-	7	1227	c.711G>C	c.(709-711)gaG>gaC	p.E237D	COL16A1_ENST00000373668.3_Missense_Mutation_p.E237D|COL16A1_ENST00000271069.6_Missense_Mutation_p.E237D	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	237	Nonhelical region 10 (NC10).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CACAGCAGCCCTCCTCCAGCA	0.552																																					Colon(143;498 1786 21362 25193 36625)												0													30	34	33					1																	32162848		2069	4205	6274	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.711G>C	1.37:g.32162848C>G	ENSP00000362776:p.Glu237Asp		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E237D	ENST00000373672.3	37	c.711	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102769	0.56183	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.74526	-0.85;-0.85;-0.85	5.24	0.636	0.17729	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	L	0.38838	1.175	0.34839	D	0.740472	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.83275	0.996;0.967;0.986	T	0.78690	-0.2106	10	0.87932	D	0	.	8.1087	0.30900	0.0:0.4966:0.0:0.5034	.	237;237;237	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	D	237	ENSP00000362776:E237D;ENSP00000271069:E237D;ENSP00000362772:E237D	ENSP00000271069:E237D	E	-	3	2	COL16A1	31935435	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.172000	0.31908	0.298000	0.22638	0.563000	0.77884	GAG	COL16A1	-	superfamily_ConA-like_lec_gl_sf		0.552	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32162848	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	0.998	G	G	32162848	C	G	32162848	3	3	81	1	0	0	0	0	1	0	0	0	3678	680	24	4	4363	4	COL16A1	1	32162848	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	7494220	32162848	217087773	3	12430										
BSDC1	55108	genome.wustl.edu	37	chr1	32841956	32841956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cgcctcctccctcagagtctCtactctggctggaggcctgg	11	16	3	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:32841956C>G	ENST00000455895.2	-	9	1096	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000526031.1_Missense_Mutation_p.E260Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.E299Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E294Q|BSDC1_ENST00000341071.7_Missense_Mutation_p.E372Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.E355Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.E372Q	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	355										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCAGAGTCTCTACTCTGGCT	0.597																																																	0													71	79	76					1																	32841956		2203	4300	6503	SO:0001583	missense	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1063G>C	1.37:g.32841956C>G	ENSP00000412173:p.Glu355Gln		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.E372Q	ENST00000455895.2	37	c.1114	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466403	0.84425	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	4.87	0.63330	.	0.134780	0.64402	D	0.000002	T	0.75561	0.3866	M	0.61703	1.905	0.58432	D	0.999992	D;D;D;D;D	0.65815	0.995;0.977;0.977;0.992;0.978	D;P;P;D;P	0.64687	0.928;0.88;0.88;0.928;0.762	T	0.75153	-0.3418	9	0.44086	T	0.13	-20.1999	17.8787	0.88833	0.0:1.0:0.0:0.0	.	260;299;372;372;355	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Q	355;294;372;260;299;372;355	.	ENSP00000344816:E372Q	E	-	1	0	BSDC1	32614543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.260000	0.65490	2.637000	0.89404	0.462000	0.41574	GAG	BSDC1	-	NULL		0.597	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	C	NM_018045		32841956	-1	no_errors	ENST00000341071	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32841956	C	G	32841956	3	3	81	1	0	0	0	0	1	0	0	0	1531	922	32	1	241	1	BSDC1	1	32841956	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	679108	32841956	216408665	4	12431										
C1orf94	84970	genome.wustl.edu	37	chr1	34677980	34677980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cctaatggcaggagatggacCgcagtacctctttccccaag	10	13	1	1	rs150314159		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:34677980C>T	ENST00000488417.1	+	6	1814	c.1694C>T	c.(1693-1695)cCg>cTg	p.P565L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P375L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	565										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAGATGGACCGCAGTACCTC	0.567																																																	0								T	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	77	67	71		1694,1124	4.3	0.9	1	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	C1orf94	NM_001134734.1,NM_032884.3	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	565/599,375/409	34677980	1,13005	2203	4300	6503	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1694C>T	1.37:g.34677980C>T	ENSP00000435634:p.Pro565Leu		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.P565L	ENST00000488417.1	37	c.1694	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668777	0.29604	2.27E-4	0.0	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.27402	1.73;1.67	5.18	4.26	0.50523	.	0.206931	0.34362	N	0.004028	T	0.28830	0.0715	M	0.73962	2.25	0.46336	D	0.998994	P	0.37708	0.606	B	0.32465	0.146	T	0.06661	-1.0814	10	0.18710	T	0.47	-23.1099	10.0534	0.42230	0.0:0.9049:0.0:0.0951	.	565	Q6P1W5	CA094_HUMAN	L	375;565	ENSP00000362472:P375L;ENSP00000435634:P565L	ENSP00000362472:P375L	P	+	2	0	C1orf94	34450567	0.853000	0.29707	0.919000	0.36401	0.221000	0.24807	1.409000	0.34680	1.171000	0.42768	0.651000	0.88453	CCG	C1orf94	-	NULL		0.567	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	C	NM_032884		34677980	1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.953	T	T	34677980	C	T	34677980	3	4	81	1	0	0	0	0	1	0	0	0	2076	652	23	2	1716	2	C1orf94	1	34677980	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	1836024	34677980	214572641	5	12432										
KIAA0467	81888	genome.wustl.edu	37	chr1	43914344	43914344	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gatcaaagttctcctaagccGcttcccccagagctgtcgcc	8	16	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:43914344G>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000562955.1_Missense_Mutation_p.R3287H|SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.R2445H			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCTAAGCCGCTTCCCCCAG	0.542																																																	0													183	191	188					1																	43914344		2203	4300	6503	SO:0001628	intergenic_variant	23334				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914344G>A			D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	NULL	p.R3287H	ENST00000372425.4	37	c.9860	CCDS53309.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051030	0.75960	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	5.43	0.79202	.	0.048762	0.85682	D	0.000000	T	0.75708	0.3886	L	0.46157	1.445	0.38008	D	0.934432	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.78773	-0.2073	9	0.72032	D	0.01	.	19.5857	0.95489	0.0:0.0:1.0:0.0	.	3344;3287	Q5T011;Q5T011-5	SZT2_HUMAN;.	H	2445	.	ENSP00000361519:R2445H	R	+	2	0	SZT2	43686931	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.592000	0.98245	2.696000	0.92011	0.591000	0.81541	CGC	SZT2	-	NULL		0.542	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding		G	NM_031207		43914344	1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43914344	G	A	43914344	1	1	81	0	1	0	0	0	0	0	0	0	8198	1087	38	2		2	KIAA0467	1	43914344	IGR	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	9236364	43914344	205336277	6	12433										
PRPF38A	84950	genome.wustl.edu	37	chr1	52878201	52878201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgtagaaacgctatgtattaGaggaagctgagcaactggag	13	5	0	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:52878201G>C	ENST00000257181.9	+	5	700	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	PRPF38A_ENST00000474048.1_3'UTR|snoU13_ENST00000458879.1_RNA	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	172					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						CTATGTATTAGAGGAAGCTGA	0.478																																																	0													79	81	80					1																	52878201		2203	4300	6503	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.514G>C	1.37:g.52878201G>C	ENSP00000257181:p.Glu172Gln		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.E172Q	ENST00000257181.9	37	c.514	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.125441	0.94429	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.73	5.73	0.89815	.	0.043220	0.85682	D	0.000000	D	0.86125	0.5858	M	0.92880	3.355	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85837	0.1395	9	0.33940	T	0.23	-22.0549	19.9161	0.97063	0.0:0.0:1.0:0.0	.	172	Q8NAV1	PR38A_HUMAN	Q	172	.	ENSP00000257181:E172Q	E	+	1	0	PRPF38A	52650789	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.059000	0.93902	2.710000	0.92621	0.650000	0.86243	GAG	PRPF38A	-	pfam_PRP38		0.478	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52878201	1	no_errors	ENST00000257181	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52878201	G	C	52878201	3	2	81	1	0	0	0	0	1	0	0	0	12594	943	33	1	532	1	PRPF38A	1	52878201	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	8963857	52878201	196372420	7	12434										
VPS72	6944	genome.wustl.edu	37	chr1	151150622	151150622	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctcgagccgctcatatgtctCtttagggtcaaaggaagaaa	10	9	3	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151150622C>T	ENST00000354473.4	-	5	599		c.e5-1		TMOD4_ENST00000416280.2_5'Flank|VPS72_ENST00000496809.1_Splice_Site|TMOD4_ENST00000601585.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCATATGTCTCTTTAGGGTCA	0.468																																					Pancreas(109;1131 2287 3209 24201)												0													56	54	55					1																	151150622		2203	4300	6503	SO:0001630	splice_region_variant	6944			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.563-1G>A	1.37:g.151150622C>T			A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Splice_Site	SNP	-	e5-1	ENST00000354473.4	37	c.563-1	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.599192	0.87055	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2195	0.73299	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS72	149417246	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.188000	0.77739	2.616000	0.88540	0.655000	0.94253	.	VPS72	-	-		0.468	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	C	NM_005997	Intron	151150622	-1	no_errors	ENST00000368892	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	151150622	C	T	151150622	5	4	81	1	0	0	0	0	0	0	1	0	17248	927	32	1	540	1	VPS72	1	151150622	Splice_Site	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	98272421	151150622	98099999	8	12435										
SNX27	81609	genome.wustl.edu	37	chr1	151641005	151641005	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctacattcagaattatacatCagctgtgccaggcacctgct	7	12	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151641005C>T	ENST00000458013.2	+	7	1163	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	SNX27_ENST00000368838.1_Missense_Mutation_p.S255L|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368843.3_Missense_Mutation_p.S348L			Q96L92	SNX27_HUMAN	sorting nexin family member 27	348	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATTATACATCAGCTGTGCCA	0.378																																					Colon(46;291 966 40145 41237 41888)												0													116	115	115					1																	151641005		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1043C>T	1.37:g.151641005C>T	ENSP00000400333:p.Ser348Leu		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.S348L	ENST00000458013.2	37	c.1043		1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188166	0.78789	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.18016	2.24;2.24;2.24	5.1	5.1	0.69264	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.41961	1.31	0.80722	D	1	P;P	0.41008	0.619;0.735	B;B	0.40506	0.331;0.209	T	0.13575	-1.0504	10	0.19147	T	0.46	.	17.2485	0.87035	0.0:1.0:0.0:0.0	.	348;348	Q96L92;Q96L92-3	SNX27_HUMAN;.	L	348;348;255	ENSP00000400333:S348L;ENSP00000357836:S348L;ENSP00000357831:S255L	ENSP00000357831:S255L	S	+	2	0	SNX27	149907629	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.044000	0.76578	2.656000	0.90262	0.305000	0.20034	TCA	SNX27	-	pfam_Ras-assoc,pfscan_Ras-assoc		0.378	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	C	NM_030918		151641005	1	no_errors	ENST00000368843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151641005	C	T	151641005	3	4	81	1	0	0	0	0	1	0	0	0	14927	838	29	1	1069	1	SNX27	1	151641005	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	490383	151641005	97609616	9	12436										
MRPL9	65005	genome.wustl.edu	37	chr1	151735518	151735518	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttttctttgggccgatgcttCgtgtcctccaccagcttata	8	12	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151735518C>A	ENST00000368830.3	-	2	342	c.258G>T	c.(256-258)acG>acT	p.T86T	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000321531.5_De_novo_Start_InFrame|OAZ3_ENST00000315067.8_De_novo_Start_InFrame|MRPL9_ENST00000368829.3_Silent_p.T86T|OAZ3_ENST00000453029.2_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	86					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGATGCTTCGTGTCCTCCA	0.657																																																	0													73	75	74					1																	151735518		2203	4300	6503	SO:0001819	synonymous_variant	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.258G>T	1.37:g.151735518C>A			B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N	p.T86	ENST00000368830.3	37	c.258	CCDS1003.1	1																																																																																			MRPL9	-	NULL		0.657	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	C	NM_031420		151735518	-1	no_errors	ENST00000368830	ensembl	human	known	70_37	silent	SNP	0.673	A	A	151735518	C	A	151735518	2	1	81	1	0	0	0	0	0	0	0	1	9843	871	31	3		3	MRPL9	1	151735518	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	94513	151735518	97515103	10	12437										
PVRL4	81607	genome.wustl.edu	37	chr1	161043069	161043069	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tcagggtggccctcggctctCagccctacactctcctccgg	10	18	3	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:161043069C>G	ENST00000368012.3	-	8	1556	c.1254G>C	c.(1252-1254)ctG>ctC	p.L418L	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	418					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCGGCTCTCAGCCCTACAC	0.657																																					NSCLC(76;1160 1387 14476 16172 29359)												0													69	65	66					1																	161043069		2203	4300	6503	SO:0001819	synonymous_variant	81607			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1254G>C	1.37:g.161043069C>G			B4DQW3|Q96K15	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L418	ENST00000368012.3	37	c.1254	CCDS1216.1	1																																																																																			PVRL4	-	NULL		0.657	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL4	HGNC	protein_coding	OTTHUMT00000077074.1	C	NM_030916		161043069	-1	no_errors	ENST00000368012	ensembl	human	known	70_37	silent	SNP	1.000	G	G	161043069	C	G	161043069	2	3	81	1	0	0	0	0	0	0	0	1	12872	813	29	1		1	PVRL4	1	161043069	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	9307551	161043069	88207552	11	12438										
CACNA1E	777	genome.wustl.edu	37	chr1	181727095	181727095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tcttgcagagggcgtgcatcGacttcgccatcagcgccaaa	11	13	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:181727095G>A	ENST00000367573.2	+	31	4342	c.4342G>A	c.(4342-4344)Gac>Aac	p.D1448N	CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1399N|CACNA1E_ENST00000526775.1_Missense_Mutation_p.D1429N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1429N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1380N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1448N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1055N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1448					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)			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						GGCGTGCATCGACTTCGCCAT	0.532																																																	0													142	148	146					1																	181727095		2133	4235	6368	SO:0001583	missense	777			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.4342G>A	1.37:g.181727095G>A	ENSP00000356545:p.Asp1448Asn		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.D1448N	ENST00000367573.2	37	c.4342	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.435775	0.96168	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96554	-3.96;-3.96;-4.05;-3.96;-4.04;-4.05;-4.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.85197	2.74	0.80722	D	1	D;P;D	0.89917	0.987;0.899;1.0	D;P;D	0.83275	0.921;0.588;0.996	D	0.99349	1.0914	10	0.87932	D	0	.	18.5085	0.90907	0.0:0.0:1.0:0.0	.	1429;1448;1448	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	N	1448;1429;1399;1380;1055;1429;1448	ENSP00000356542:D1448N;ENSP00000434814:D1429N;ENSP00000350183:D1399N;ENSP00000351101:D1380N;ENSP00000356539:D1055N;ENSP00000353222:D1429N;ENSP00000356545:D1448N	ENSP00000350183:D1399N	D	+	1	0	CACNA1E	179993718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.731000	0.98807	2.465000	0.83290	0.655000	0.94253	GAC	CACNA1E	-	NULL		0.532	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181727095	1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	A	A	181727095	G	A	181727095	3	1	81	1	0	0	0	0	1	0	0	0	2547	1058	37	1	4464	1	CACNA1E	1	181727095	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	20684026	181727095	67523526	12	12439										
CFHR5	81494	genome.wustl.edu	37	chr1	196971786	196971786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acgatggcaatcattaccacGctgtgttggttagtagttta	10	7	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:196971786G>A	ENST00000256785.4	+	8	1431	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R465H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	441	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R441L(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCATTACCACGCTGTGTTGGT	0.328																																																	1	Substitution - Missense(1)	lung(1)											73	77	76					1																	196971786		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1322G>A	1.37:g.196971786G>A	ENSP00000256785:p.Arg441His		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R465H	ENST00000256785.4	37	c.1394	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197922	0.22037	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65178	-0.14;-0.14	3.62	-7.24	0.01475	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46112	0.1376	L	0.49699	1.58	0.09310	N	1	P	0.37398	0.593	B	0.32533	0.147	T	0.23940	-1.0174	9	0.27785	T	0.31	.	9.4208	0.38550	0.2949:0.0:0.5898:0.1153	.	441	Q9BXR6	FHR5_HUMAN	H	465;441	ENSP00000356384:R465H;ENSP00000256785:R441H	ENSP00000256785:R441H	R	+	2	0	CFHR5	195238409	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.605000	0.00889	-2.581000	0.00462	-3.254000	0.00050	CGC	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.328	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196971786	1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196971786	G	A	196971786	3	1	81	1	0	0	0	0	1	0	0	0	3293	1087	38	2	1352	2	CFHR5	1	196971786	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	15244691	196971786	52278835	13	12440										
DISP1	84976	genome.wustl.edu	37	chr1	223176653	223176653	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgctttggggtttatgcgggGacagctatattggtgaatta	14	4	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:223176653G>A	ENST00000284476.6	+	8	2078	c.1914G>A	c.(1912-1914)ggG>ggA	p.G638G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	638	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTATGCGGGGACAGCTATAT	0.433																																																	0													114	105	108					1																	223176653		2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1914G>A	1.37:g.223176653G>A			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.G638	ENST00000284476.6	37	c.1914	CCDS1536.1	1																																																																																			DISP1	-	pfam_Patched,pfam_MMPL-typ,pfscan_SSD		0.433	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	G	NM_032890		223176653	1	no_errors	ENST00000284476	ensembl	human	known	70_37	silent	SNP	0.865	A	A	223176653	G	A	223176653	2	1	81	1	0	0	0	0	0	0	0	1	4549	1161	41	1		1	DISP1	1	223176653	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	26204867	223176653	26073968	14	12441										
KIAA1383	54627	genome.wustl.edu	37	chr1	232943181	232943181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gttgacagaattgtagataaGgaaatagatattagacaggt	11	2	0	5			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:232943181G>T	ENST00000418460.1	+	1	2539	c.2412G>T	c.(2410-2412)aaG>aaT	p.K804N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	662	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTGTAGATAAGGAAATAGATA	0.358																																																	0													72	74	74					1																	232943181		1844	4091	5935	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2412G>T	1.37:g.232943181G>T	ENSP00000403208:p.Lys804Asn		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.K804N	ENST00000418460.1	37	c.2412	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	G	3.629	-0.075880	0.07184	.	.	ENSG00000212916	ENST00000418460	.	.	.	6.01	-1.3	0.09259	.	0.582768	0.13990	U	0.348842	T	0.16854	0.0405	L	0.35414	1.06	0.09310	N	1	P	0.38335	0.627	B	0.29077	0.098	T	0.21211	-1.0252	9	0.16420	T	0.52	-7.7409	5.2499	0.15517	0.4469:0.0:0.3399:0.2132	.	662	Q9P2G4	K1383_HUMAN	N	804	.	ENSP00000403208:K804N	K	+	3	2	KIAA1383	231009804	0.004000	0.15560	0.026000	0.17262	0.014000	0.08584	-0.118000	0.10692	0.077000	0.16863	-0.382000	0.06688	AAG	KIAA1383	-	NULL		0.358	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	G	NM_019090		232943181	1	no_errors	ENST00000418460	ensembl	human	known	70_37	missense	SNP	0.000	T	T	232943181	G	T	232943181	3	4	81	1	0	0	0	0	1	0	0	0	8248	991	35	4	2414	4	KIAA1383	1	232943181	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	9766528	232943181	16307440	15	12442										
THADA	63892	genome.wustl.edu	37	chr2	43571336	43571336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gctggaagtctgaattcgttCcgtgtttggagtctgagtag	14	6	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:43571336C>T	ENST00000405006.4	-	30	4619	c.4268G>A	c.(4267-4269)gGa>gAa	p.G1423E	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.G1423E|THADA_ENST00000415080.2_Missense_Mutation_p.G1104E|THADA_ENST00000485353.1_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1423										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGAATTCGTTCCGTGTTTGGA	0.398																																																	0													82	75	77					2																	43571336		1918	4133	6051	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4268G>A	2.37:g.43571336C>T	ENSP00000385995:p.Gly1423Glu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.G1423E	ENST00000405006.4	37	c.4268	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.434|9.434	1.086352|1.086352	0.20390|0.20390	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.10668	.|3.02;2.85;3.02	4.8|4.8	3.92|3.92	0.45320|0.45320	.|.	.|0.650983	.|0.15484	.|N	.|0.259956	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.14661|0.14661	0.345|0.345	0.19300|0.19300	N|N	0.999979|0.999979	.|B;B;B	.|0.22604	.|0.072;0.002;0.001	.|B;B;B	.|0.18871	.|0.023;0.005;0.004	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	-14.185|-14.185	3.3021|3.3021	0.06987|0.06987	0.3142:0.4499:0.1519:0.0839|0.3142:0.4499:0.1519:0.0839	.|.	.|1350;1104;1423	.|B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;THADA_HUMAN	K|E	663|1423;1350;1104;1423	.|ENSP00000386088:G1423E;ENSP00000416048:G1104E;ENSP00000385995:G1423E	.|ENSP00000349464:G1350E	E|G	-|-	1|2	0|0	THADA|THADA	43424840|43424840	0.955000|0.955000	0.32602|0.32602	0.960000|0.960000	0.40013|0.40013	0.903000|0.903000	0.53119|0.53119	0.331000|0.331000	0.19733|0.19733	1.231000|1.231000	0.43661|0.43661	0.585000|0.585000	0.79938|0.79938	GAA|GGA	THADA	-	NULL		0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43571336	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	0.932	T	T	43571336	C	T	43571336	3	4	81	1	0	0	0	0	1	0	0	0	15870	855	30	1	1629	1	THADA	2	43571336	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		43571336	199628037	16	12443										
AAK1	22848	genome.wustl.edu	37	chr2	69709945	69709945	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gagtccctcaattagtttttCtacgttgggcagagagacaa	10	8	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:69709945C>G	ENST00000409085.4	-	18	2742		c.e18-1		AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Splice_Site	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ATTAGTTTTTCTACGTTGGGC	0.398																																																	0													107	109	109					2																	69709945		1867	4122	5989	SO:0001630	splice_region_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2366-1G>C	2.37:g.69709945C>G			Q4ZFZ3|Q53RX6|Q9UPV4	Splice_Site	SNP	-	e17-1	ENST00000409085.4	37	c.2366-1	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823912	0.71143	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8713	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AAK1	69563449	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.941000	0.75922	2.705000	0.92388	0.655000	0.94253	.	AAK1	-	-		0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	C	NM_014911	Intron	69709945	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	69709945	C	G	69709945	5	3	81	1	0	0	0	0	0	0	1	0	16	927	32	1	540	1	AAK1	2	69709945	Splice_Site	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	26138609	69709945	173489428	17	12444										
TANK	10010	genome.wustl.edu	37	chr2	162087928	162087928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acacttgtatcaggacaactCtggatagagctgcgtgtttg	11	8	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:162087928C>G	ENST00000392749.2	+	7	1206	c.967C>G	c.(967-969)Ctg>Gtg	p.L323V	TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Missense_Mutation_p.L323V|TANK_ENST00000259075.2_Missense_Mutation_p.L323V|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	323					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAGGACAACTCTGGATAGAGC	0.428																																																	0													88	86	87					2																	162087928		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.967C>G	2.37:g.162087928C>G	ENSP00000376505:p.Leu323Val		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.L323V	ENST00000392749.2	37	c.967	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	C	2.373	-0.343826	0.05208	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.31769	1.92;1.92;1.48;1.48;1.87	5.21	3.32	0.38043	.	0.766138	0.11815	N	0.526825	T	0.25419	0.0618	L	0.40543	1.245	0.45005	D	0.998028	B	0.02656	0.0	B	0.04013	0.001	T	0.02829	-1.1105	10	0.23302	T	0.38	0.8514	11.3151	0.49388	0.0:0.5538:0.3774:0.0688	.	323	Q92844	TANK_HUMAN	V	323;323;323;214;78	ENSP00000259075:L323V;ENSP00000376505:L323V;ENSP00000385487:L323V;ENSP00000412556:L214V;ENSP00000387439:L78V	ENSP00000259075:L323V	L	+	1	2	TANK	161796174	0.867000	0.29959	0.972000	0.41901	0.971000	0.66376	1.641000	0.37197	0.619000	0.30197	0.591000	0.81541	CTG	TANK	-	NULL		0.428	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	C	NM_133484		162087928	1	no_errors	ENST00000259075	ensembl	human	known	70_37	missense	SNP	0.721	G	G	162087928	C	G	162087928	3	3	81	1	0	0	0	0	1	0	0	0	15576	912	32	1	1022	1	TANK	2	162087928	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	92377983	162087928	81111445	18	12445										
HOXD10	3236	genome.wustl.edu	37	chr2	176982109	176982109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	catgctccagctcaaccctcGtggcgcggccaagccgcagc	11	18	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:176982109G>A	ENST00000249501.4	+	1	803	c.548G>A	c.(547-549)cGt>cAt	p.R183H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	183					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTCAACCCTCGTGGCGCGGCC	0.587																																																	0													34	42	39					2																	176982109		2201	4298	6499	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.548G>A	2.37:g.176982109G>A	ENSP00000249501:p.Arg183His		Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R183H	ENST00000249501.4	37	c.548	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177602	0.78564	.	.	ENSG00000128710	ENST00000249501	D	0.94376	-3.41	5.99	5.99	0.97316	.	0.089867	0.64402	N	0.000001	D	0.91603	0.7347	L	0.50333	1.59	0.52099	D	0.999947	B	0.26002	0.139	B	0.16289	0.015	D	0.87507	0.2437	10	0.49607	T	0.09	.	20.4756	0.99175	0.0:0.0:1.0:0.0	.	183	P28358	HXD10_HUMAN	H	183	ENSP00000249501:R183H	ENSP00000249501:R183H	R	+	2	0	HOXD10	176690355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	2.847000	0.97988	0.655000	0.94253	CGT	HOXD10	-	NULL		0.587	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	G			176982109	1	no_errors	ENST00000249501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176982109	G	A	176982109	3	1	81	1	0	0	0	0	1	0	0	0	7339	1145	40	2	550	2	HOXD10	2	176982109	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	14894181	176982109	66217264	19	12446										
TTN	7273	genome.wustl.edu	37	chr2	179399219	179399219	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tccatggcttcaatgctaatCtctttgaatgcttcctcatc	5	12	3	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:179399219C>T	ENST00000591111.1	-	308	97424	c.97200G>A	c.(97198-97200)gaG>gaA	p.E32400E	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.E25168E|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.E25101E|TTN_ENST00000460472.2_Silent_p.E24976E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.E34041E|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.E31473E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGCTAATCTCTTTGAATG	0.428																																																	0													129	129	129					2																	179399219		1929	4124	6053	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97200G>A	2.37:g.179399219C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E31473	ENST00000591111.1	37	c.94419		2																																																																																			TTN	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179399219	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.887	T	T	179399219	C	T	179399219	2	4	81	1	0	0	0	0	0	0	0	1	16766	912	32	1		1	TTN	2	179399219	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	2417110	179399219	63800154	20	12447										
SLC23A3	151295	genome.wustl.edu	37	chr2	220029972	220029972	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	agcagcccggccagcacactGcccagcccctccaggctcag	10	20	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:220029972G>C	ENST00000409878.3	-	8	1118	c.1086C>G	c.(1084-1086)ggC>ggG	p.G362G	SLC23A3_ENST00000455516.2_Silent_p.G370G|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	362					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCACACTGCCCAGCCCCT	0.657																																																	0													16	24	22					2																	220029972		689	1590	2279	SO:0001819	synonymous_variant	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1086C>G	2.37:g.220029972G>C			B7Z512|Q2PYN6|Q96NA6	Silent	SNP	pfam_Xant/urac/vitC	p.G370	ENST00000409878.3	37	c.1110	CCDS46518.1	2																																																																																			SLC23A3	-	pfam_Xant/urac/vitC		0.657	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	G	NM_144712		220029972	-1	no_errors	ENST00000455516	ensembl	human	known	70_37	silent	SNP	1.000	C	C	220029972	G	C	220029972	2	2	81	1	0	0	0	0	0	0	0	1	14494	1306	46	4		4	SLC23A3	2	220029972	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	40630753	220029972	23169401	21	12448										
SLC23A3	151295	genome.wustl.edu	37	chr2	220030095	220030095	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gaggctgccaaggccatggaGatgcctgcagccagagctct	14	12	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:220030095G>C	ENST00000409878.3	-	8	995	c.963C>G	c.(961-963)atC>atG	p.I321M	SLC23A3_ENST00000455516.2_Missense_Mutation_p.I329M|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCCATGGAGATGCCTGCAG	0.622																																																	0													22	32	29					2																	220030095		692	1591	2283	SO:0001583	missense	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.963C>G	2.37:g.220030095G>C	ENSP00000386473:p.Ile321Met		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.I329M	ENST00000409878.3	37	c.987	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956851	0.53293	.	.	ENSG00000213901	ENST00000409878;ENST00000455516	T;T	0.18338	2.22;2.22	5.31	0.979	0.19745	.	.	.	.	.	T	0.27663	0.0680	L	0.43152	1.355	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.64410	0.925;0.925	T	0.00847	-1.1542	8	.	.	.	.	11.5928	0.50955	0.3143:0.0:0.6857:0.0	.	321;329	Q6PIS1;B7Z512	S23A3_HUMAN;.	M	321;329	ENSP00000386473:I321M;ENSP00000406546:I329M	.	I	-	3	3	SLC23A3	219738339	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	-0.058000	0.11750	0.247000	0.21414	0.655000	0.94253	ATC	SLC23A3	-	pfam_Xant/urac/vitC		0.622	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	G	NM_144712		220030095	-1	no_errors	ENST00000455516	ensembl	human	known	70_37	missense	SNP	0.993	C	C	220030095	G	C	220030095	3	2	81	1	0	0	0	0	1	0	0	0	14494	932	33	1	889	1	SLC23A3	2	220030095	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	123	220030095	23169278	22	12449										
OBSL1	23363	genome.wustl.edu	37	chr2	220428191	220428191	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gcgatggggcccctcattctCcagcaccacgaagtcactct	9	16	4	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:220428191C>G	ENST00000404537.1	-	7	2622	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q	OBSL1_ENST00000373873.4_Missense_Mutation_p.E856Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.E856Q|OBSL1_ENST00000603926.1_Missense_Mutation_p.E856Q|OBSL1_ENST00000265318.4_Missense_Mutation_p.E856Q|OBSL1_ENST00000289656.3_Missense_Mutation_p.E443Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	856	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCTCATTCTCCAGCACCACG	0.647																																																	0													61	70	67					2																	220428191		2148	4233	6381	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2566G>C	2.37:g.220428191C>G	ENSP00000385636:p.Glu856Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E856Q	ENST00000404537.1	37	c.2566	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649811	0.67358	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76292	0.3967	L	0.53729	1.69	0.42403	D	0.992572	D;D;D;P	0.69078	0.997;0.997;0.981;0.925	D;D;P;P	0.71414	0.973;0.973;0.832;0.561	T	0.71262	-0.4645	9	0.15499	T	0.54	.	17.8265	0.88667	0.0:1.0:0.0:0.0	.	857;856;443;856	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	Q	856;856;856;856;443	ENSP00000265318:E856Q;ENSP00000385636:E856Q;ENSP00000362983:E856Q;ENSP00000362980:E856Q;ENSP00000289656:E443Q	ENSP00000265318:E856Q	E	-	1	0	OBSL1	220136435	0.970000	0.33590	0.979000	0.43373	0.816000	0.46133	1.281000	0.33214	2.433000	0.82419	0.561000	0.74099	GAG	OBSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.647	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220428191	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	1.000	G	G	220428191	C	G	220428191	3	3	81	1	0	0	0	0	1	0	0	0	10837	864	30	1	3336	1	OBSL1	2	220428191	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	398096	220428191	22771182	23	12450										
CELSR3	1951	genome.wustl.edu	37	chr3	48698441	48698441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gcgcttctcgctgaactgagGagcattgtcgttctcgtcta	11	11	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:48698441G>T	ENST00000164024.4	-	1	1907	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T	CELSR3_ENST00000544264.1_Missense_Mutation_p.P543T|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	543	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGAACTGAGGAGCATTGTCG	0.657																																																	0													59	46	50					3																	48698441		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1627C>A	3.37:g.48698441G>T	ENSP00000164024:p.Pro543Thr		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.P543T	ENST00000164024.4	37	c.1627	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617880	0.87359	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.85258	-1.96;-1.96	5.62	5.62	0.85841	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96393	0.8823	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98111	1.0420	9	0.87932	D	0	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	543;613	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	543	ENSP00000164024:P543T;ENSP00000445694:P543T	ENSP00000164024:P543T	P	-	1	0	CELSR3	48673445	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.802000	0.99131	2.642000	0.89623	0.655000	0.94253	CCT	CELSR3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48698441	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48698441	G	T	48698441	3	4	81	1	0	0	0	0	1	0	0	0	3228	1174	41	3	8451	3	CELSR3	3	48698441	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		48698441	149323989	24	12451										
PRKAR2A	5576	genome.wustl.edu	37	chr3	48884906	48884906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgaggctggggcgcgggcctCgcgcaggcgggtgaagtact	20	10	0	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:48884906C>T	ENST00000265563.8	-	1	373	c.124G>A	c.(124-126)Gag>Aag	p.E42K	PRKAR2A-AS1_ENST00000412171.2_RNA|PRKAR2A-AS1_ENST00000435419.1_RNA|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.E42K|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.E42K|PRKAR2A-AS1_ENST00000431705.1_RNA|PRKAR2A-AS1_ENST00000416209.2_RNA	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	42	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GCGCGGGCCTCGCGCAGGCGG	0.731																																																	0													7	12	10					3																	48884906		2081	4079	6160	SO:0001583	missense	5576				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.124G>A	3.37:g.48884906C>T	ENSP00000265563:p.Glu42Lys		Q16823|Q9BUB1	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.E42K	ENST00000265563.8	37	c.124	CCDS2778.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988195	0.74589	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446;ENST00000419216	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.86	3.86	0.44501	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.110108	0.38058	N	0.001824	T	0.66025	0.2748	L	0.38175	1.15	0.44611	D	0.997588	P;P	0.41345	0.746;0.746	B;B	0.36567	0.228;0.228	T	0.64706	-0.6344	10	0.16896	T	0.51	0.1594	15.1594	0.72771	0.0:1.0:0.0:0.0	.	42;42	Q9BUB1;P13861	.;KAP2_HUMAN	K	42	ENSP00000265563:E42K;ENSP00000394041:E42K;ENSP00000296446:E42K;ENSP00000411432:E42K	ENSP00000265563:E42K	E	-	1	0	PRKAR2A	48859910	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.785000	0.55424	1.866000	0.54105	0.460000	0.39030	GAG	PRKAR2A	-	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su		0.731	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2A	HGNC	protein_coding	OTTHUMT00000257518.1	C			48884906	-1	no_errors	ENST00000265563	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48884906	C	T	48884906	3	4	81	1	0	0	0	0	1	0	0	0	12532	893	31	1	1134	1	PRKAR2A	3	48884906	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	186465	48884906	149137524	25	12452										
SI	6476	genome.wustl.edu	37	chr3	164741481	164741481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aggtcagctgttatacccatGgatgaatagcgagctgagtt	12	7	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:164741481G>A	ENST00000264382.3	-	26	3038	c.2976C>T	c.(2974-2976)tcC>tcT	p.S992S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	992	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTATACCCATGGATGAATAGC	0.413										HNSCC(35;0.089)																																							0													129	122	124					3																	164741481		2203	4300	6503	SO:0001819	synonymous_variant	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2976C>T	3.37:g.164741481G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S992	ENST00000264382.3	37	c.2976	CCDS3196.1	3																																																																																			SI	-	superfamily_Glyco_hydro-type_carb-bd		0.413	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164741481	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	silent	SNP	0.015	A	A	164741481	G	A	164741481	2	1	81	1	0	0	0	0	0	0	0	1	14327	1335	47	4		4	SI	3	164741481	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	115856575	164741481	33280949	26	12453										
SPATA16	83893	genome.wustl.edu	37	chr3	172634172	172634172	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgctagctctgccattgcttGattaatcacctgggactgct	9	11	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:172634172G>C	ENST00000351008.3	-	9	1621	c.1438C>G	c.(1438-1440)Caa>Gaa	p.Q480E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCCATTGCTTGATTAATCACC	0.478																																																	0													234	217	223					3																	172634172		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1438C>G	3.37:g.172634172G>C	ENSP00000341765:p.Gln480Glu		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	NULL	p.Q480E	ENST00000351008.3	37	c.1438	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858978	0.51376	.	.	ENSG00000144962	ENST00000351008	T	0.20881	2.04	6.17	6.17	0.99709	.	0.083454	0.52532	D	0.000069	T	0.35307	0.0927	L	0.32530	0.975	0.38023	D	0.9349	D	0.58620	0.983	P	0.57720	0.826	T	0.04103	-1.0977	10	0.72032	D	0.01	-6.913	20.8794	0.99867	0.0:0.0:1.0:0.0	.	480	Q9BXB7	SPT16_HUMAN	E	480	ENSP00000341765:Q480E	ENSP00000341765:Q480E	Q	-	1	0	SPATA16	174116866	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.057000	0.76669	2.941000	0.99782	0.655000	0.94253	CAA	SPATA16	-	NULL		0.478	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	G	NM_031955		172634172	-1	no_errors	ENST00000351008	ensembl	human	known	70_37	missense	SNP	1.000	C	C	172634172	G	C	172634172	3	2	81	1	0	0	0	0	1	0	0	0	15031	1299	45	1	283	1	SPATA16	3	172634172	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	7892691	172634172	25388258	27	12454										
TP63	8626	genome.wustl.edu	37	chr3	189612142	189612142	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cagtcagtgtgggctccagtGagacccggggtgagcgtgtt	17	9	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:189612142G>T	ENST00000264731.3	+	14	1983	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	TP63_ENST00000456148.1_Nonsense_Mutation_p.E534*|TP63_ENST00000449992.1_Nonsense_Mutation_p.E453*|TP63_ENST00000382063.4_Nonsense_Mutation_p.E547*|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Nonsense_Mutation_p.E628*|TP63_ENST00000354600.5_Nonsense_Mutation_p.E538*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	632	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGGCTCCAGTGAGACCCGGGG	0.572										HNSCC(45;0.13)																																							0													119	113	115					3																	189612142		2203	4300	6503	SO:0001587	stop_gained	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1894G>T	3.37:g.189612142G>T	ENSP00000264731:p.Glu632*		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.E632*	ENST00000264731.3	37	c.1894	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.575697	0.97676	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.1227	19.2671	0.93993	0.0:0.0:1.0:0.0	.	.	.	.	X	632;628;547;538;453;534	.	.	E	+	1	0	TP63	191094836	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.176000	0.94839	2.788000	0.95919	0.650000	0.86243	GAG	TP63	-	NULL		0.572	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	G	NM_003722		189612142	1	no_errors	ENST00000264731	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	189612142	G	T	189612142	4	4	81	1	0	0	0	0	0	1	0	0	16423	1291	45	3	2113	3	TP63	3	189612142	Nonsense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	16977970	189612142	8410288	28	12455										
PDE6B	5158	genome.wustl.edu	37	chr4	657639	657639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gacatcgccatcatcgccacGgacctggccctgtacttcaa	8	16	2	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:657639G>A	ENST00000496514.1	+	16	2022	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.T667T|PDE6B_ENST00000429163.2_Silent_p.T388T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	667					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TCATCGCCACGGACCTGGCCC	0.692																																					GBM(71;463 1194 9848 25922 46834)												0													48	47	47					4																	657639		2202	4300	6502	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2001G>A	4.37:g.657639G>A			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T667	ENST00000496514.1	37	c.2001	CCDS33932.1	4																																																																																			PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.692	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	G	NM_000283		657639	1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	0.014	A	A	657639	G	A	657639	2	1	81	1	0	0	0	0	0	0	0	1	11670	1103	39	2		2	PDE6B	4	657639	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		657639	190496637	29	12456										
ATP5I	521	genome.wustl.edu	37	chr4	668037	668037	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acctgcaccggtggcaccatCttgtccctgacctccgcacc	8	19	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:668037C>G	ENST00000304312.4	-	0	90				MYL5_ENST00000511290.1_5'Flank|ATP5I_ENST00000506525.1_5'Flank|MYL5_ENST00000505477.1_Intron|MYL5_ENST00000506838.1_5'UTR	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E						ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2						GTGGCACCATCTTGTCCCTGA	0.677																																																	0													61	48	52					4																	668037		2201	4299	6500	SO:0001623	5_prime_UTR_variant	521			AB028624	CCDS3337.1	4p16.3	2012-10-12	2010-06-11		ENSG00000169020	ENSG00000169020		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	846	protein-coding gene	gene with protein product		601519	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E"			8702853	Standard	NM_007100		Approved		uc003gas.3	P56385	OTTHUMG00000086929	ENST00000304312.4:c.-1G>C	4.37:g.668037C>G			Q0D2L9	RNA	SNP	-	NULL	ENST00000304312.4	37	NULL	CCDS3337.1	4																																																																																			ATP5I	-	-		0.677	ATP5I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5I	HGNC	protein_coding	OTTHUMT00000195856.2	C			668037	-1	no_errors	ENST00000505852	ensembl	human	known	70_37	rna	SNP	0.942	G	G	668037	C	G	668037	1	3	81	0	1	0	0	0	0	0	0	0	1158	928	32	1		1	ATP5I	4	668037	5'UTR	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	10398	668037	190486239	30	12457										
PCGF3	10336	genome.wustl.edu	37	chr4	758843	758843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttcgtggttgtcactaggtgGagattcaaggtgagacacgt	14	6	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:758843G>T	ENST00000362003.5	+	10	1067	c.672G>T	c.(670-672)tgG>tgT	p.W224C	RP11-440L14.1_ENST00000507446.1_RNA|PCGF3_ENST00000470161.2_Missense_Mutation_p.W224C|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000521023.2_Missense_Mutation_p.W190C|PCGF3_ENST00000505655.2_Missense_Mutation_p.W224C|AC139887.4_ENST00000454037.1_RNA	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						TCACTAGGTGGAGATTCAAGG	0.458																																																	0													102	106	105					4																	758843		2023	4176	6199	SO:0001583	missense	10336			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.672G>T	4.37:g.758843G>T	ENSP00000354724:p.Trp224Cys		D3DVN1|O15262	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.W224C	ENST00000362003.5	37	c.672	CCDS3339.2	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177756	0.78564	.	.	ENSG00000185619	ENST00000362003;ENST00000470161;ENST00000521023;ENST00000505655	T;T;T	0.55234	0.53;0.53;0.53	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.97;1.0;0.999	T	0.77846	-0.2436	10	0.66056	D	0.02	-20.1203	15.9106	0.79470	0.0:0.0:1.0:0.0	.	190;190;224	B3KWT8;B3KQ06;Q3KNV8	.;.;PCGF3_HUMAN	C	224;224;190;224	ENSP00000354724:W224C;ENSP00000420489:W224C;ENSP00000423393:W224C	ENSP00000354724:W224C	W	+	3	0	PCGF3	748843	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.128000	0.94424	2.348000	0.79779	0.561000	0.74099	TGG	PCGF3	-	NULL		0.458	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	G	NM_006315		758843	1	no_errors	ENST00000362003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	758843	G	T	758843	3	4	81	1	0	0	0	0	1	0	0	0	11600	1183	41	3	698	3	PCGF3	4	758843	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	90806	758843	190395433	31	12458										
SH3TC1	54436	genome.wustl.edu	37	chr4	8239286	8239286	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggcgagctggcagagcacttCtacctcaaggccctgtcgct	12	14	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:8239286C>G	ENST00000245105.3	+	17	3709	c.3642C>G	c.(3640-3642)ttC>ttG	p.F1214L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.F1138L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1214										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGAGCACTTCTACCTCAAGG	0.637																																					NSCLC(145;2298 2623 35616 37297)												0													54	44	48					4																	8239286		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3642C>G	4.37:g.8239286C>G	ENSP00000245105:p.Phe1214Leu		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.F1214L	ENST00000245105.3	37	c.3642	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910201	0.52439	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75260	-0.92;-0.73	4.32	2.37	0.29283	Tetratricopeptide-like helical (1);	0.074136	0.56097	D	0.000026	T	0.76350	0.3975	M	0.63428	1.95	0.37100	D	0.899865	P	0.44877	0.845	P	0.52881	0.712	T	0.75396	-0.3332	10	0.22109	T	0.4	-30.2639	10.7854	0.46403	0.0:0.7558:0.0:0.2442	.	1214	Q8TE82	S3TC1_HUMAN	L	1214;1138;1043	ENSP00000245105:F1214L;ENSP00000441045:F1138L	ENSP00000245105:F1214L	F	+	3	2	SH3TC1	8290186	0.999000	0.42202	1.000000	0.80357	0.897000	0.52465	0.640000	0.24705	1.040000	0.40099	0.555000	0.69702	TTC	SH3TC1	-	smart_TPR_repeat		0.637	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8239286	1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8239286	C	G	8239286	3	3	81	1	0	0	0	0	1	0	0	0	14291	912	32	1	3704	1	SH3TC1	4	8239286	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	7480443	8239286	182914990	32	12459										
MAP9	79884	genome.wustl.edu	37	chr4	156276946	156276946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gaaggtttttggtccaagacTtttaaagtccctaaatagtg	9	6	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:156276946T>G	ENST00000311277.4	-	9	1475	c.1212A>C	c.(1210-1212)aaA>aaC	p.K404N	MAP9_ENST00000515654.1_Missense_Mutation_p.K380N|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	404					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GGTCCAAGACTTTTAAAGTCC	0.348																																																	0													84	86	85					4																	156276946		2203	4300	6503	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1212A>C	4.37:g.156276946T>G	ENSP00000310593:p.Lys404Asn		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.K404N	ENST00000311277.4	37	c.1212	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987866	0.74589	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.49432	1.34;3.08;0.78	5.28	2.61	0.31194	.	0.143592	0.43579	D	0.000550	T	0.54549	0.1865	L	0.60455	1.87	0.80722	D	1	D;D;D	0.57257	0.961;0.979;0.961	P;P;P	0.61658	0.849;0.892;0.849	T	0.55016	-0.8206	10	0.72032	D	0.01	-16.0856	4.8383	0.13476	0.0:0.3183:0.0:0.6817	.	379;404;404	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	N	404;380;403	ENSP00000310593:K404N;ENSP00000427402:K380N;ENSP00000394048:K403N	ENSP00000310593:K404N	K	-	3	2	MAP9	156496396	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.527000	0.45615	0.962000	0.38057	0.472000	0.43445	AAA	MAP9	-	NULL		0.348	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	T	NM_001039580		156276946	-1	no_errors	ENST00000311277	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156276946	T	G	156276946	3	3	81	1	0	0	0	0	1	0	0	0	9293	1606	56	5	755	5	MAP9	4	156276946	Missense_Mutation	SNP	T	TCGA-EA-A43B-01A-81D-A243-09	148037660	156276946	34877330	33	12460										
DEPDC1B	55789	genome.wustl.edu	37	chr5	59940689	59940689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttctaaggaatccaggccaaGaattttctgtaagctaaaag	8	7	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:59940689G>A	ENST00000265036.5	-	5	659	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.L171F|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.L198F	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	198					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TCCAGGCCAAGAATTTTCTGT	0.289																																																	0													53	53	53					5																	59940689		2203	4298	6501	SO:0001583	missense	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.592C>T	5.37:g.59940689G>A	ENSP00000265036:p.Leu198Phe		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.L198F	ENST00000265036.5	37	c.592	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188191	0.78789	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.46063	1.61;1.33;0.88	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.79693	2.465	0.58432	D	0.999994	D;B	0.76494	0.999;0.405	D;B	0.77004	0.989;0.221	T	0.65869	-0.6063	9	.	.	.	-23.4802	11.2854	0.49218	0.109:0.0:0.891:0.0	.	198;198	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	F	198;198;171	ENSP00000265036:L198F;ENSP00000389101:L198F;ENSP00000438320:L171F	.	L	-	1	0	DEPDC1B	59976446	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.150000	0.64869	2.812000	0.96745	0.557000	0.71058	CTT	DEPDC1B	-	NULL		0.289	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	HGNC	protein_coding	OTTHUMT00000214207.1	G	NM_018369		59940689	-1	no_errors	ENST00000265036	ensembl	human	known	70_37	missense	SNP	0.998	A	A	59940689	G	A	59940689	3	1	81	1	0	0	0	0	1	0	0	0	4450	942	33	1	1025	1	DEPDC1B	5	59940689	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		59940689	120974571	34	12461										
ERBB2IP	55914	genome.wustl.edu	37	chr5	65339981	65339981	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctaggagggaaatttaaaaaGatatccaacaccatacccag	7	9	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:65339981G>A	ENST00000284037.5	+	17	1834	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R482K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	482					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AATTTAAAAAGATATCCAACA	0.303																																																	0													64	69	67					5																	65339981		2203	4298	6501	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1445G>A	5.37:g.65339981G>A	ENSP00000284037:p.Arg482Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R482K	ENST00000284037.5	37	c.1445	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858255	0.91433	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.994;0.994;0.999;0.992	D;D;D;D;D;D;D	0.85130	0.995;0.997;0.986;0.977;0.97;0.997;0.986	T	0.04347	-1.0958	10	0.62326	D	0.03	.	17.8843	0.88849	0.0:0.0:1.0:0.0	.	482;482;482;482;482;482;482	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	482	ENSP00000284037:R482K;ENSP00000370330:R482K;ENSP00000370326:R482K;ENSP00000370323:R482K;ENSP00000370322:R482K;ENSP00000370325:R482K;ENSP00000422766:R482K;ENSP00000426632:R482K;ENSP00000422015:R482K	ENSP00000284037:R482K	R	+	2	0	ERBB2IP	65375737	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.420000	0.97426	2.289000	0.77006	0.563000	0.77884	AGA	ERBB2IP	-	NULL		0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65339981	1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65339981	G	A	65339981	3	1	81	1	0	0	0	0	1	0	0	0	5219	942	33	1	1503	1	ERBB2IP	5	65339981	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	5399292	65339981	115575279	35	12462										
POLR3G	10622	genome.wustl.edu	37	chr5	89781433	89781433	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctgcttatacctttaatattGaggctgttggatttagcaaa	8	6	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:89781433G>C	ENST00000399107.1	+	2	249	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	POLR3G_ENST00000514483.1_Missense_Mutation_p.E17Q|POLR3G_ENST00000504930.1_Missense_Mutation_p.E17Q	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	17					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		CTTTAATATTGAGGCTGTTGG	0.398																																																	0													129	116	120					5																	89781433		1859	4096	5955	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.49G>C	5.37:g.89781433G>C	ENSP00000382058:p.Glu17Gln		A8MTH0	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.E17Q	ENST00000399107.1	37	c.49	CCDS43337.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220664	0.79464	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	5.41	0.78517	.	0.093898	0.64402	D	0.000001	T	0.74816	0.3766	M	0.83012	2.62	0.46981	D	0.999279	D	0.52996	0.957	P	0.54431	0.752	T	0.77099	-0.2713	9	0.49607	T	0.09	-34.1046	13.8199	0.63313	0.0:0.1535:0.8465:0.0	.	17	O15318	RPC7_HUMAN	Q	17	.	ENSP00000382058:E17Q	E	+	1	0	POLR3G	89817189	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.748000	0.62148	2.697000	0.92050	0.563000	0.77884	GAG	POLR3G	-	pfam_RNA_pol_III_Rpc31		0.398	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1	G	NM_006467		89781433	1	no_errors	ENST00000399107	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89781433	G	C	89781433	3	2	81	1	0	0	0	0	1	0	0	0	12258	1291	45	1	51	1	POLR3G	5	89781433	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	24441452	89781433	91133827	36	12463										
PCDHA3	56145	genome.wustl.edu	37	chr5	140182427	140182427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgccgcctctgggcagcaacGtgacgctgcaggtgttcgtg	15	12	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:140182427G>A	ENST00000522353.2	+	1	1645	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V549M	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCAACGTGACGCTGCA	0.677																																																	0																																										SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1645G>A	5.37:g.140182427G>A	ENSP00000429808:p.Val549Met		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V549M	ENST00000522353.2	37	c.1645	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579180	0.65878	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53640	0.61;0.61	4.68	4.68	0.58851	Cadherin (5);Cadherin-like (1);	0.000000	0.37623	U	0.002010	T	0.66489	0.2794	M	0.80183	2.485	0.28107	N	0.931144	D;D	0.63880	0.993;0.977	P;P	0.61328	0.887;0.532	T	0.64931	-0.6291	10	0.87932	D	0	.	13.7316	0.62792	0.0:0.1545:0.8455:0.0	.	549;549	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	549	ENSP00000429808:V549M;ENSP00000434086:V549M	ENSP00000429808:V549M	V	+	1	0	PCDHA3	140162611	0.982000	0.34865	1.000000	0.80357	0.717000	0.41224	5.163000	0.64948	2.340000	0.79590	0.306000	0.20318	GTG	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	G	NM_018906		140182427	1	no_errors	ENST00000522353	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140182427	G	A	140182427	3	1	81	1	0	0	0	0	1	0	0	0	11549	1145	40	2	1647	2	PCDHA3	5	140182427	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	50400994	140182427	40732833	37	12464										
PCDH1	5097	genome.wustl.edu	37	chr5	141243774	141243774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	atagggtgcgttgtcattctCgtccagcacattgatggtga	12	8	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:141243774C>T	ENST00000394536.3	-	3	2261	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	PCDH1_ENST00000287008.3_Missense_Mutation_p.E708K|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.E696K|PCDH1_ENST00000536585.1_Missense_Mutation_p.E686K|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	708	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGTCATTCTCGTCCAGCACA	0.567																																					Ovarian(132;1609 1739 4190 14731 45037)												0													145	129	134					5																	141243774		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2122G>A	5.37:g.141243774C>T	ENSP00000378043:p.Glu708Lys		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E708K	ENST00000394536.3	37	c.2122	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650506	0.47362	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.60920	0.15;4.67;4.67;4.67;4.67	5.25	5.25	0.73442	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000112	T	0.66934	0.2840	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.97;0.986	T	0.68284	-0.5449	10	0.52906	T	0.07	.	16.3548	0.83232	0.0:1.0:0.0:0.0	.	708;708	Q08174;Q08174-2	PCDH1_HUMAN;.	K	708;708;696;719;686	ENSP00000287008:E708K;ENSP00000378043:E708K;ENSP00000403497:E696K;ENSP00000350122:E719K;ENSP00000438825:E686K	ENSP00000287008:E708K	E	-	1	0	PCDH1	141223958	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	6.056000	0.71111	2.463000	0.83235	0.450000	0.29827	GAG	PCDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.567	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	C	NM_032420		141243774	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141243774	C	T	141243774	3	4	81	1	0	0	0	0	1	0	0	0	11530	893	31	1	1687	1	PCDH1	5	141243774	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	1061347	141243774	39671486	38	12465										
EHMT2	10919	genome.wustl.edu	37	chr6	31864229	31864229	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cccgcccctgtcattgacatCttggcccggctaggacagga	11	15	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:31864229C>T	ENST00000375537.4	-	4	399	c.393G>A	c.(391-393)aaG>aaA	p.K131K	C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000395728.3_Silent_p.K188K|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.K131K|EHMT2_ENST00000375528.4_Silent_p.K188K	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	131					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCATTGACATCTTGGCCCGGC	0.552																																																	0													95	111	105					6																	31864229		1509	2709	4218	SO:0001819	synonymous_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.393G>A	6.37:g.31864229C>T			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.K188	ENST00000375537.4	37	c.564	CCDS4725.1	6																																																																																			EHMT2	-	NULL		0.552	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	C	NM_006709		31864229	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31864229	C	T	31864229	2	4	81	1	0	0	0	0	0	0	0	1	4994	912	32	1		1	EHMT2	6	31864229	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		31864229	139250838	39	12466										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34831951	34831951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tggacagtgatggcagtgatAgctttgtgatgctcttggag	15	5	1	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:34831951A>T	ENST00000192788.5	+	15	3559	c.3388A>T	c.(3388-3390)Agc>Tgc	p.S1130C	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1130C	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1130							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGCAGTGATAGCTTTGTGAT	0.507																																																	0													137	140	139					6																	34831951		2075	4219	6294	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3388A>T	6.37:g.34831951A>T	ENSP00000192788:p.Ser1130Cys		Q9NXE0	Missense_Mutation	SNP	NULL	p.S1130C	ENST00000192788.5	37	c.3388	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660620	0.67586	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09817	2.94;2.94	6.04	1.18	0.20946	.	0.484691	0.26180	N	0.025880	T	0.04952	0.0133	L	0.50333	1.59	0.20638	N	0.999875	D	0.53151	0.958	P	0.45712	0.491	T	0.22382	-1.0218	10	0.72032	D	0.01	-1.5168	8.2786	0.31887	0.4581:0.0:0.5419:0.0	.	1130	Q6BDS2	URFB1_HUMAN	C	1130	ENSP00000192788:S1130C;ENSP00000400628:S1130C	ENSP00000192788:S1130C	S	+	1	0	UHRF1BP1	34939929	0.985000	0.35326	0.537000	0.28052	0.994000	0.84299	2.038000	0.41184	0.188000	0.20168	0.459000	0.35465	AGC	UHRF1BP1	-	NULL		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	A	NM_017754		34831951	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	0.307	T	T	34831951	A	T	34831951	3	4	81	1	0	0	0	0	1	0	0	0	16999	420	15	5	3446	5	UHRF1BP1	6	34831951	Missense_Mutation	SNP	A	TCGA-EA-A43B-01A-81D-A243-09	2967722	34831951	136283116	40	12467										
MYO6	4646	genome.wustl.edu	37	chr6	76550344	76550344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tggaaatgcgaagactgttcGcaacaataatagcagtcgat	10	7	0	1	rs140235734		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:76550344G>A	ENST00000369977.3	+	8	735	c.596G>A	c.(595-597)cGc>cAc	p.R199H	MYO6_ENST00000369975.1_Missense_Mutation_p.R199H|MYO6_ENST00000369985.4_Missense_Mutation_p.R199H|MYO6_ENST00000369981.3_Missense_Mutation_p.R199H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	199	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGACTGTTCGCAACAATAAT	0.338																																																	0								G	HIS/ARG	0,4406		0,0,2203	83	85	85		596	5	1	6	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO6	NM_004999.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	199/1286	76550344	1,13005	2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.596G>A	6.37:g.76550344G>A	ENSP00000358994:p.Arg199His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R199H	ENST00000369977.3	37	c.596	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034908	0.93575	0.0	1.16E-4	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.97	D	0.96602	0.9445	10	0.87932	D	0	.	18.2315	0.89936	0.0:0.0:1.0:0.0	.	199;199	Q9UM54-2;Q9UM54-1	.;.	H	199	ENSP00000358998:R199H;ENSP00000359002:R199H;ENSP00000358994:R199H;ENSP00000358992:R199H	ENSP00000358992:R199H	R	+	2	0	MYO6	76607064	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.318000	0.78349	0.650000	0.86243	CGC	MYO6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.338	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	G	NM_004999		76550344	1	no_errors	ENST00000369981	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76550344	G	A	76550344	3	1	81	1	0	0	0	0	1	0	0	0	10104	1087	38	2	622	2	MYO6	6	76550344	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	41718393	76550344	94564723	41	12468										
POPDC3	64208	genome.wustl.edu	37	chr6	105607617	105607618	+	Missense_Mutation	DNP	GA	GA	AT													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cttcctctgtgggtctcagtGaatcccactcaggagaatcc							TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:105607617_105607618GA>AT	ENST00000254765.3	-	3	840_841	c.562_563TC>AT	c.(562-564)TCa>ATa	p.S188I	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	188					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTCTCAGTGAATCCCACTCA	0.406																																																	0																																										SO:0001583	missense	64208			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.562_563delinsAT	6.37:g.105607617_105607618delinsAT	ENSP00000254765:p.Ser188Ile		B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.S188L|p.S188T	ENST00000254765.3	37	c.563|c.562	CCDS5052.1	6																																																																																			POPDC3	-	pfam_Popeye_prot,superfamily_cNMP-bd-like		0.406	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POPDC3	HGNC	protein_coding	OTTHUMT00000041651.1	G|A	NM_022361		105607617|105607618	-1	no_errors	ENST00000254765	ensembl	human	known	70_37	missense	SNP	1.000	A|T	AT	105607618	GA	AT	105607617	3	1	81	1	0	0	0	0	1	0	0	0	12280	1294	45	1	320	1	POPDC3	6	105607617	Missense_Mutation	DNP	GA	TCGA-EA-A43B-01A-81D-A243-09	29057273	105607617	65507450	42	12469										
RNF146	81847	genome.wustl.edu	37	chr6	127608557	127608557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggagtcataggggagaaggaGaagaagatcatgaatcacca	14	5	3	5			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:127608557G>C	ENST00000368314.1	+	3	1223	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.E266Q|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000309649.3_Missense_Mutation_p.E266Q|RNF146_ENST00000610153.1_Missense_Mutation_p.E267Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	267					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGGAGAAGGAGAAGAAGATCA	0.463																																																	0													169	157	161					6																	127608557		2203	4300	6503	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.799G>C	6.37:g.127608557G>C	ENSP00000357297:p.Glu267Gln		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.E267Q	ENST00000368314.1	37	c.799	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569569	0.65765	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.30448	1.53;1.54;1.54	5.09	5.09	0.68999	.	0.052246	0.64402	D	0.000001	T	0.30510	0.0767	L	0.53249	1.67	0.53688	D	0.999976	P	0.47409	0.895	P	0.47044	0.535	T	0.09574	-1.0668	10	0.72032	D	0.01	-17.4935	18.69	0.91580	0.0:0.0:1.0:0.0	.	267	Q9NTX7	RN146_HUMAN	Q	267;266;266	ENSP00000357297:E267Q;ENSP00000349253:E266Q;ENSP00000309365:E266Q	ENSP00000309365:E266Q	E	+	1	0	RNF146	127650250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.683000	0.74533	2.666000	0.90696	0.655000	0.94253	GAA	RNF146	-	NULL		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	G	NM_030963		127608557	1	no_errors	ENST00000368314	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127608557	G	C	127608557	3	2	81	1	0	0	0	0	1	0	0	0	13478	943	33	1	798	1	RNF146	6	127608557	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	22000940	127608557	43506510	43	12470										
T	6862	genome.wustl.edu	37	chr6	166580885	166580885	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cgcacccacctgccgttcttGgtcacgatcatctcattggt	8	15	4	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:166580885G>C	ENST00000296946.2	-	2	663	c.195C>G	c.(193-195)acC>acG	p.T65T	T_ENST00000366871.3_Silent_p.T65T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	65					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGCCGTTCTTGGTCACGATCA	0.692									Chordoma, Familial Clustering of																																								0													47	38	41					6																	166580885		2203	4300	6503	SO:0001819	synonymous_variant	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.195C>G	6.37:g.166580885G>C			E7ERD6|Q4KMP4	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.T65	ENST00000296946.2	37	c.195	CCDS5290.1	6																																																																																			T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.692	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	G	NM_003181		166580885	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	silent	SNP	1.000	C	C	166580885	G	C	166580885	2	2	81	1	0	0	0	0	0	0	0	1	15518	1335	47	4		4	T	6	166580885	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	38972328	166580885	4534182	44	12471										
MLLT4	4301	genome.wustl.edu	37	chr6	168370499	168370499	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctggaagttctggggcccctGaaaacttgacattcaaggaa	11	9	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:168370499G>A	ENST00000447894.2	+	33	5359	c.5359G>A	c.(5359-5361)Gaa>Aaa	p.E1787K	MLLT4_ENST00000366806.2_Missense_Mutation_p.E1787K|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1794K|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1797K|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1706K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1787					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGGGGCCCCTGAAAACTTGAC	0.413			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													62	62	62					6																	168370499		1828	4076	5904	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.5359G>A	6.37:g.168370499G>A	ENSP00000404595:p.Glu1787Lys		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E1787K	ENST00000447894.2	37	c.5359		6	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821023	0.90873	.	.	ENSG00000130396	ENST00000351017;ENST00000366806;ENST00000392112;ENST00000400822;ENST00000447894	T;T;T;T;T	0.20332	2.53;2.62;2.08;2.54;2.53	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	M	0.72118	2.19	0.46927	D	0.999258	D	0.76494	0.999	D	0.83275	0.996	T	0.34179	-0.9839	10	0.72032	D	0.01	-18.1275	19.2237	0.93808	0.0:0.0:1.0:0.0	.	1797	P55196-5	.	K	1794;1787;1706;1797;1787	ENSP00000252692:E1794K;ENSP00000355771:E1787K;ENSP00000375960:E1706K;ENSP00000383623:E1797K;ENSP00000404595:E1787K	ENSP00000252692:E1794K	E	+	1	0	MLLT4	168113348	1.000000	0.71417	0.836000	0.33094	0.468000	0.32798	9.217000	0.95160	2.598000	0.87819	0.655000	0.94253	GAA	MLLT4	-	NULL		0.413	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168370499	1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	168370499	G	A	168370499	3	1	81	1	0	0	0	0	1	0	0	0	9652	1291	45	1	5616	1	MLLT4	6	168370499	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	1789614	168370499	2744568	45	12472										
LIMK1	3984	genome.wustl.edu	37	chr7	73530278	73530278	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ccctactggatggcacctgaGatgatcaacggtgagtggtt	13	9	1	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:73530278G>C	ENST00000336180.2	+	13	1608	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	LIMK1_ENST00000418310.1_Missense_Mutation_p.E549D|LIMK1_ENST00000538333.3_Missense_Mutation_p.E485D	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGGCACCTGAGATGATCAACG	0.632																																																	0													96	81	86					7																	73530278		2203	4300	6503	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1557G>C	7.37:g.73530278G>C	ENSP00000336740:p.Glu519Asp		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E519D	ENST00000336180.2	37	c.1557	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821213	0.71028	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	D;D;D	0.83591	-1.74;-1.74;-1.74	5.25	5.25	0.73442	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94003	0.8079	H	0.95884	3.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95715	0.8761	10	0.87932	D	0	-39.9348	16.385	0.83501	0.0:0.0:1.0:0.0	.	485;519	B7Z6I8;P53667	.;LIMK1_HUMAN	D	549;519;519;485	ENSP00000409717:E549D;ENSP00000336740:E519D;ENSP00000444452:E485D	ENSP00000336740:E519D	E	+	3	2	LIMK1	73168214	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	4.404000	0.59735	2.463000	0.83235	0.543000	0.68304	GAG	LIMK1	-	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,pfscan_Prot_kinase_cat_dom		0.632	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	G	NM_002314		73530278	1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73530278	G	C	73530278	3	2	81	1	0	0	0	0	1	0	0	0	8821	933	33	1	1607	1	LIMK1	7	73530278	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		73530278	85608385	46	12473										
STYXL1	51657	genome.wustl.edu	37	chr7	75633094	75633094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	accaatgaagtgacacatgtGgcgtaagaagggaagaatct	12	6	1	4			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:75633094G>T	ENST00000248600.1	-	7	1021	c.679C>A	c.(679-681)Cac>Aac	p.H227N	STYXL1_ENST00000431581.1_Missense_Mutation_p.H227N|STYXL1_ENST00000359697.3_Missense_Mutation_p.H227N|STYXL1_ENST00000451157.1_Missense_Mutation_p.H227N|STYXL1_ENST00000340062.5_Missense_Mutation_p.H131N|STYXL1_ENST00000360591.3_3'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	227	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TGACACATGTGGCGTAAGAAG	0.547																																																	0													137	103	114					7																	75633094		2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.679C>A	7.37:g.75633094G>T	ENSP00000248600:p.His227Asn		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	p.H227N	ENST00000248600.1	37	c.679	CCDS5580.1	7	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457408	0.26161	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	3.74	3.74	0.42951	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.424608	0.23787	N	0.044571	T	0.32971	0.0847	L	0.42245	1.32	0.80722	D	1	P;P;P;P;P;B	0.47762	0.799;0.737;0.9;0.763;0.473;0.147	B;B;P;B;B;B	0.48400	0.234;0.422;0.576;0.229;0.158;0.281	T	0.07966	-1.0745	10	0.59425	D	0.04	-21.8648	11.3505	0.49585	0.0:0.0:1.0:0.0	.	227;227;227;131;227;131	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	N	227;227;131;227;227;182;227	ENSP00000248600:H227N;ENSP00000352726:H227N;ENSP00000343383:H131N;ENSP00000392221:H227N;ENSP00000406073:H182N;ENSP00000411812:H227N	ENSP00000248600:H227N	H	-	1	0	STYXL1	75471030	0.511000	0.26179	0.969000	0.41365	0.288000	0.27193	1.494000	0.35616	2.397000	0.81536	0.563000	0.77884	CAC	STYXL1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.547	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	G	NM_016086		75633094	-1	no_errors	ENST00000248600	ensembl	human	known	70_37	missense	SNP	0.969	T	T	75633094	G	T	75633094	3	4	81	1	0	0	0	0	1	0	0	0	15391	1348	47	4	274	4	STYXL1	7	75633094	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	2102816	75633094	83505569	47	12474										
TAS2R38	5726	genome.wustl.edu	37	chr7	141672740	141672740	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acaaagaagcagaaaaaggaGacaagagacttgagggcttt	12	5	0	5	rs575623439		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:141672740G>T	ENST00000547270.1	-	1	833	c.750C>A	c.(748-750)gtC>gtA	p.V250V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	250					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGAAAAAGGAGACAAGAGACT	0.502																																																	0													58	58	58					7																	141672740		2203	4300	6503	SO:0001819	synonymous_variant	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.750C>A	7.37:g.141672740G>T			A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	pfam_TAS2_rcpt	p.V250	ENST00000547270.1	37	c.750	CCDS34765.1	7																																																																																			TAS2R38	-	pfam_TAS2_rcpt		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	HGNC	protein_coding	OTTHUMT00000350810.2	G	NM_176817		141672740	-1	no_errors	ENST00000547270	ensembl	human	known	70_37	silent	SNP	0.217	T	T	141672740	G	T	141672740	2	4	81	1	0	0	0	0	0	0	0	1	15605	929	33	3		3	TAS2R38	7	141672740	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	66039646	141672740	17465923	48	12475										
PHYHIP	9796	genome.wustl.edu	37	chr8	22085783	22085783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	atgggtgaccctctccaggtCactgtcctccatggcccagg	11	15	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:22085783C>T	ENST00000321613.3	-	3	544	c.88G>A	c.(88-90)Gac>Aac	p.D30N	PHYHIP_ENST00000454243.2_Missense_Mutation_p.D30N	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	30	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CTCTCCAGGTCACTGTCCTCC	0.537																																																	0													104	107	106					8																	22085783		2089	4224	6313	SO:0001583	missense	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.88G>A	8.37:g.22085783C>T	ENSP00000320017:p.Asp30Asn		D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D30N	ENST00000321613.3	37	c.88	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575736	0.65878	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132	T;T	0.47869	0.83;0.83	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.19112	0.55	0.43613	D	0.995982	B	0.16166	0.016	B	0.15484	0.013	T	0.07927	-1.0747	10	0.31617	T	0.26	-45.7986	18.5258	0.90971	0.0:1.0:0.0:0.0	.	30	Q92561	PHYIP_HUMAN	N	30	ENSP00000320017:D30N;ENSP00000415491:D30N	ENSP00000320017:D30N	D	-	1	0	PHYHIP	22141728	0.940000	0.31905	1.000000	0.80357	0.998000	0.95712	1.658000	0.37376	2.675000	0.91044	0.511000	0.50034	GAC	PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.537	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	C	NM_014759		22085783	-1	no_errors	ENST00000454243	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22085783	C	T	22085783	3	4	81	1	0	0	0	0	1	0	0	0	11890	826	29	1	920	1	PHYHIP	8	22085783	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		22085783	124278239	49	12476										
EFCAB1	79645	genome.wustl.edu	37	chr8	49642371	49642371	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aaggctgttcttcaacatgtGaaacatttcctcctttgaaa	6	9	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:49642371G>A	ENST00000262103.3	-	4	459	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	EFCAB1_ENST00000433756.1_Missense_Mutation_p.H75Y|EFCAB1_ENST00000523092.1_Missense_Mutation_p.H75Y|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	127	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTCAACATGTGAAACATTTCC	0.333																																																	0													103	97	99					8																	49642371		2202	4300	6502	SO:0001583	missense	79645				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.379C>T	8.37:g.49642371G>A	ENSP00000262103:p.His127Tyr		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	p.H127Y	ENST00000262103.3	37	c.379	CCDS6145.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.974|5.974	0.363692|0.363692	0.11296|0.11296	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000522254	T;T;T|.	0.71461|.	-0.57;-0.57;-0.57|.	5.46|5.46	5.46|5.46	0.80206|0.80206	EF-hand-like domain (1);|.	0.226096|.	0.53938|.	D|.	0.000058|.	T|T	0.61123|0.61123	0.2322|0.2322	L|L	0.41027|0.41027	1.25|1.25	0.46774|0.46774	D|D	0.999198|0.999198	B;B|.	0.26935|.	0.023;0.164|.	B;B|.	0.31614|.	0.036;0.133|.	T|T	0.54682|0.54682	-0.8257|-0.8257	10|5	0.40728|.	T|.	0.16|.	.|.	16.8609|16.8609	0.86018|0.86018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	75;127|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	Y|L	75;127;127;75|44	ENSP00000400873:H75Y;ENSP00000262103:H127Y;ENSP00000430765:H75Y|.	ENSP00000262103:H127Y|.	H|S	-|-	1|2	0|0	EFCAB1|EFCAB1	49804924|49804924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.295000|6.295000	0.72744|0.72744	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAC|TCA	EFCAB1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2		0.333	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	G	NM_024593		49642371	-1	no_errors	ENST00000262103	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49642371	G	A	49642371	3	1	81	1	0	0	0	0	1	0	0	0	4943	1290	45	1	268	1	EFCAB1	8	49642371	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	27556588	49642371	96721651	50	12477										
XKR9	389668	genome.wustl.edu	37	chr8	71593475	71593475	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggctcagtgttttagttattCttggttcaaggctgatttaa	10	5	3	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:71593475C>A	ENST00000408926.3	+	3	716	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S61Y	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	61						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTAGTTATTCTTGGTTCAAG	0.378																																																	0													246	245	245					8																	71593475		2203	4300	6503	SO:0001583	missense	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.182C>A	8.37:g.71593475C>A	ENSP00000386141:p.Ser61Tyr		B2RNS9|B9EH74	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S61Y	ENST00000408926.3	37	c.182	CCDS34905.1	8	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096648	0.20552	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.63580	-0.05;-0.05;-0.05	5.31	4.41	0.53225	.	0.415783	0.25654	N	0.029193	T	0.55210	0.1906	L	0.51422	1.61	0.28174	N	0.928462	D	0.55800	0.973	P	0.50825	0.651	T	0.53436	-0.8439	10	0.02654	T	1	-18.6022	7.4416	0.27187	0.1689:0.7414:0.0:0.0897	.	61	Q5GH70	XKR9_HUMAN	Y	61	ENSP00000386141:S61Y;ENSP00000431088:S61Y;ENSP00000428904:S61Y	ENSP00000386141:S61Y	S	+	2	0	XKR9	71756029	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.465000	0.35299	2.627000	0.88993	0.585000	0.79938	TCT	XKR9	-	pfam_Transport_prot_XK		0.378	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	C	NM_001011720		71593475	1	no_errors	ENST00000408926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71593475	C	A	71593475	3	1	81	1	0	0	0	0	1	0	0	0	17469	913	32	3	184	3	XKR9	8	71593475	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	21951104	71593475	74770547	51	12478										
ZNF34	80778	genome.wustl.edu	37	chr8	145998848	145998848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gggtttctctccgtggtgcaGcctctggtggtggatgagtc	16	9	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:145998848G>A	ENST00000343459.4	-	6	1551	c.1486C>T	c.(1486-1488)Ctg>Ttg	p.L496L	ZNF34_ENST00000429371.2_Silent_p.L475L			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CCGTGGTGCAGCCTCTGGTGG	0.557																																																	0													122	120	120					8																	145998848		2203	4300	6503	SO:0001819	synonymous_variant	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1486C>T	8.37:g.145998848G>A			D3DWN1|Q9BSZ0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L496	ENST00000343459.4	37	c.1486	CCDS47945.1	8																																																																																			ZNF34	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	G	NM_030580		145998848	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	silent	SNP	0.000	A	A	145998848	G	A	145998848	2	1	81	1	0	0	0	0	0	0	0	1	17886	962	34	4		4	ZNF34	8	145998848	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	74405373	145998848	365174	52	12479										
FAM75A6	389730	genome.wustl.edu	37	chr9	43627712	43627712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acttgtatccccacgacattCtggccatcagagctgagcaa	8	13	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:43627712C>G	ENST00000332857.6	-	4	1003	c.975G>C	c.(973-975)caG>caC	p.Q325H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	325					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCACGACATTCTGGCCATCAG	0.463																																																	0													1	1	1					9																	43627712		20	79	99	SO:0001583	missense	389730				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.975G>C	9.37:g.43627712C>G	ENSP00000329825:p.Gln325His			Missense_Mutation	SNP	NULL	p.Q325H	ENST00000332857.6	37	c.975	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586628	0.28268	.	.	ENSG00000185775	ENST00000332857	T	0.04234	3.67	1.91	0.992	0.19819	.	0.803069	0.10381	N	0.681510	T	0.15176	0.0366	M	0.69523	2.12	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.15521	-1.0434	10	0.42905	T	0.14	-1.6603	4.2476	0.10679	0.0:0.7911:0.0:0.2089	.	325	Q5VVP1	F75A6_HUMAN	H	325	ENSP00000329825:Q325H	ENSP00000329825:Q325H	Q	-	3	2	FAM75A6	43567708	0.169000	0.23002	0.022000	0.16811	0.008000	0.06430	0.646000	0.24797	0.370000	0.24538	0.449000	0.29647	CAG	SPATA31A6	-	NULL		0.463	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	C	NM_001145196		43627712	-1	no_errors	ENST00000332857	ensembl	human	known	70_37	missense	SNP	0.028	G	G	43627712	C	G	43627712	3	3	81	1	0	0	0	0	1	0	0	0	5640	912	32	1	3060	1	FAM75A6	9	43627712	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		43627712	97585719	53	12480										
OR1J2	26740	genome.wustl.edu	37	chr9	125273111	125273111	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	agaaccagagcagcgtgtccGagttcctccttctgggcctc	11	14	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:125273111G>C	ENST00000335302.5	+	1	31	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CAGCGTGTCCGAGTTCCTCCT	0.532																																																	0													156	145	149					9																	125273111		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.31G>C	9.37:g.125273111G>C	ENSP00000335575:p.Glu11Gln		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E11Q	ENST00000335302.5	37	c.31	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695812	0.30052	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01126	5.3	4.69	0.701	0.18104	.	0.822266	0.09750	U	0.760709	T	0.02193	0.0068	M	0.65975	2.015	0.09310	N	1	B	0.32731	0.382	B	0.35931	0.214	T	0.38542	-0.9656	10	0.62326	D	0.03	.	9.0489	0.36363	0.0805:0.4278:0.4918:0.0	.	11	Q8NGS2	OR1J2_HUMAN	Q	11	ENSP00000335575:E11Q	ENSP00000335575:E11Q	E	+	1	0	OR1J2	124312932	0.000000	0.05858	0.026000	0.17262	0.918000	0.54935	0.059000	0.14322	0.046000	0.15833	-0.132000	0.14878	GAG	OR1J2	-	NULL		0.532	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	G			125273111	1	no_errors	ENST00000335302	ensembl	human	known	70_37	missense	SNP	0.038	C	C	125273111	G	C	125273111	3	2	81	1	0	0	0	0	1	0	0	0	10984	1059	37	1	33	1	OR1J2	9	125273111	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	81645399	125273111	15940320	54	12481										
SEC16A	9919	genome.wustl.edu	37	chr9	139370924	139370924	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgagagattctcctcattttCtgtctctcccccttggaaaa	6	12	4	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:139370924C>G	ENST00000371706.3	-	1	643	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	SEC16A_ENST00000431893.2_Missense_Mutation_p.E204Q|SEC16A_ENST00000313050.7_Missense_Mutation_p.E382Q|SEC16A_ENST00000290037.6_Missense_Mutation_p.E204Q			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	204					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCTCATTTTCTGTCTCTCCC	0.592																																																	0													20	23	22					9																	139370924		1905	4124	6029	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.610G>C	9.37:g.139370924C>G	ENSP00000360771:p.Glu204Gln		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.E382Q	ENST00000371706.3	37	c.1144		9	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943636	0.92593	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.38240	1.15;1.18;1.18;1.19	5.21	4.29	0.51040	.	0.060128	0.64402	D	0.000006	T	0.56031	0.1958	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.995	D;D;D;P	0.68943	0.914;0.961;0.961;0.886	T	0.58891	-0.7556	10	0.66056	D	0.02	-26.437	12.6224	0.56610	0.0:0.9198:0.0:0.0802	.	382;204;204;9	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	Q	382;204;204;204;9	ENSP00000325827:E382Q;ENSP00000360771:E204Q;ENSP00000290037:E204Q;ENSP00000387583:E204Q	ENSP00000290037:E204Q	E	-	1	0	SEC16A	138490745	1.000000	0.71417	0.935000	0.37517	0.997000	0.91878	5.512000	0.67030	2.589000	0.87451	0.655000	0.94253	GAA	SEC16A	-	NULL		0.592	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	C	XM_088459		139370924	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139370924	C	G	139370924	3	3	81	1	0	0	0	0	1	0	0	0	14016	922	32	1	6049	1	SEC16A	9	139370924	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	14097813	139370924	1842507	55	12482										
SEC16A	9919	genome.wustl.edu	37	chr9	139371510	139371510	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tcatgtgggttttgcctgctCaggggtcggtcgagcccagg	16	10	2	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:139371510C>T	ENST00000371706.3	-	1	57	c.24G>A	c.(22-24)ctG>ctA	p.L8L	SEC16A_ENST00000431893.2_Silent_p.L8L|SEC16A_ENST00000313050.7_Silent_p.L186L|SEC16A_ENST00000290037.6_Silent_p.L8L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	8					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTGCCTGCTCAGGGGTCGGT	0.607																																																	0													84	93	90					9																	139371510		2059	4183	6242	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.24G>A	9.37:g.139371510C>T			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.L186	ENST00000371706.3	37	c.558		9																																																																																			SEC16A	-	NULL		0.607	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	C	XM_088459		139371510	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	silent	SNP	0.001	T	T	139371510	C	T	139371510	2	4	81	1	0	0	0	0	0	0	0	1	14016	813	29	1		1	SEC16A	9	139371510	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	586	139371510	1841921	56	12483										
TRAF2	7186	genome.wustl.edu	37	chr9	139818343	139818343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cggctacaagatgtgtctgcGtatctacctgaacggcgacg	12	11	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:139818343G>A	ENST00000247668.2	+	10	1230	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R393H|TRAF2_ENST00000359662.3_Missense_Mutation_p.R445H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	393	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ATGTGTCTGCGTATCTACCTG	0.627																																																	0													103	82	89					9																	139818343		2203	4300	6503	SO:0001583	missense	7186			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1178G>A	9.37:g.139818343G>A	ENSP00000247668:p.Arg393His		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R445H	ENST00000247668.2	37	c.1334	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.362446	0.95877	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.50001	0.76;0.76;0.76	4.69	4.69	0.59074	TRAF-type (1);TRAF-like (1);MATH (3);	0.113624	0.64402	D	0.000015	T	0.76111	0.3942	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	P;P;D	0.67231	0.83;0.83;0.95	D	0.83835	0.0254	10	0.87932	D	0	-36.5572	17.7887	0.88546	0.0:0.0:1.0:0.0	.	382;368;393	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	H	393;392;393;445;314	ENSP00000446414:R393H;ENSP00000247668:R393H;ENSP00000352685:R445H	ENSP00000247668:R393H	R	+	2	0	TRAF2	138938164	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	9.554000	0.98121	2.453000	0.82957	0.561000	0.74099	CGT	TRAF2	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.627	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	HGNC	protein_coding	OTTHUMT00000055166.1	G	NM_021138		139818343	1	no_errors	ENST00000359662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139818343	G	A	139818343	3	1	81	1	0	0	0	0	1	0	0	0	16469	1145	40	2	1212	2	TRAF2	9	139818343	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	446833	139818343	1395088	57	12484										
MYO3A	53904	genome.wustl.edu	37	chr10	26417425	26417425	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	attaacattgcaaatgaacaAattcagtattattataatca	3	5	2	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:26417425A>G	ENST00000265944.5	+	20	2386	c.2220A>G	c.(2218-2220)caA>caG	p.Q740Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	740	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAATGAACAAATTCAGTATT	0.333																																																	0													75	71	73					10																	26417425		2203	4300	6503	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2220A>G	10.37:g.26417425A>G			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.Q740	ENST00000265944.5	37	c.2220	CCDS7148.1	10																																																																																			MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	A	NM_017433		26417425	1	no_errors	ENST00000265944	ensembl	human	known	70_37	silent	SNP	1.000	G	G	26417425	A	G	26417425	2	3	81	1	0	0	0	0	0	0	0	1	10099	11	1	5		5	MYO3A	10	26417425	Silent	SNP	A	TCGA-EA-A43B-01A-81D-A243-09		26417425	109117322	58	12485										
SVIL	6840	genome.wustl.edu	37	chr10	29822309	29822309	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggcgctggctggtgtctcctCtgagttacggactctgaggc	15	11	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:29822309C>G	ENST00000355867.4	-	8	1739	c.987G>C	c.(985-987)caG>caC	p.Q329H	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.Q329H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	329					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTGTCTCCTCTGAGTTACGG	0.483																																																	0													84	73	77					10																	29822309		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.987G>C	10.37:g.29822309C>G	ENSP00000348128:p.Gln329His		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.Q329H	ENST00000355867.4	37	c.987	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792971	0.31685	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.49720	0.77;0.77	5.85	3.96	0.45880	.	0.366667	0.28653	N	0.014589	T	0.41834	0.1176	M	0.67953	2.075	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.24297	-1.0164	9	.	.	.	-21.1368	6.5726	0.22547	0.0:0.6627:0.1321:0.2052	.	329	O95425	SVIL_HUMAN	H	329	ENSP00000364547:Q329H;ENSP00000348128:Q329H	.	Q	-	3	2	SVIL	29862315	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	0.550000	0.23345	0.775000	0.33450	0.655000	0.94253	CAG	SVIL	-	NULL		0.483	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	C			29822309	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29822309	C	G	29822309	3	3	81	1	0	0	0	0	1	0	0	0	15451	912	32	1	5781	1	SVIL	10	29822309	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	3404884	29822309	105712438	59	12486										
RBP3	5949	genome.wustl.edu	37	chr10	48388081	48388081	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cgtgggcaccttggcacgcaGagccactatgtcctgggcta	13	13	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:48388081G>A	ENST00000224600.4	-	1	2910	c.2797C>T	c.(2797-2799)Ctg>Ttg	p.L933L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	933	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCACGCAGAGCCACTATG	0.632																																																	0													54	52	52					10																	48388081		2203	4300	6503	SO:0001819	synonymous_variant	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2797C>T	10.37:g.48388081G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.L933	ENST00000224600.4	37	c.2797	CCDS7218.1	10																																																																																			RBP3	-	NULL		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	G	NM_002900		48388081	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	silent	SNP	0.997	A	A	48388081	G	A	48388081	2	1	81	1	0	0	0	0	0	0	0	1	13187	933	33	1		1	RBP3	10	48388081	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	18565772	48388081	87146666	60	12487										
PCDH15	65217	genome.wustl.edu	37	chr10	56089395	56089395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aagtagcgagtcttatcttcAtagttgagcctcttccttaa	7	9	4	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:56089395A>G	ENST00000320301.6	-	7	1060	c.666T>C	c.(664-666)taT>taC	p.Y222Y	PCDH15_ENST00000395446.1_Silent_p.Y222Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.Y222Y|PCDH15_ENST00000361849.3_Silent_p.Y222Y|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000373965.2_Silent_p.Y222Y|PCDH15_ENST00000414778.1_Silent_p.Y227Y|PCDH15_ENST00000373955.1_Silent_p.Y222Y|PCDH15_ENST00000395440.1_Silent_p.Y222Y|PCDH15_ENST00000437009.1_Silent_p.Y222Y|PCDH15_ENST00000395433.1_Silent_p.Y200Y|PCDH15_ENST00000395430.1_Silent_p.Y222Y|PCDH15_ENST00000395438.1_Silent_p.Y222Y|PCDH15_ENST00000373957.3_Silent_p.Y200Y|PCDH15_ENST00000395442.1_Silent_p.Y222Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTATCTTCATAGTTGAGCC	0.323										HNSCC(58;0.16)																																							0													163	159	160					10																	56089395		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.666T>C	10.37:g.56089395A>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y222	ENST00000320301.6	37	c.666	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.323	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	A	NM_033056		56089395	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56089395	A	G	56089395	2	3	81	1	0	0	0	0	0	0	0	1	11535	224	8	5		5	PCDH15	10	56089395	Silent	SNP	A	TCGA-EA-A43B-01A-81D-A243-09	7701314	56089395	79445352	61	12488										
LIPJ	142910	genome.wustl.edu	37	chr10	90353745	90353745	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gcaacatggtttgcttacatCtgccagcagctggatttcca	9	11	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:90353745C>G	ENST00000371939.3	+	5	487	c.173C>G	c.(172-174)tCt>tGt	p.S58C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	58					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTGCTTACATCTGCCAGCAGC	0.383																																																	0													91	88	89					10																	90353745		2203	4299	6502	SO:0001583	missense	142910			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.173C>G	10.37:g.90353745C>G	ENSP00000361007:p.Ser58Cys		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.S58C	ENST00000371939.3	37	c.173	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811799	0.50527	.	.	ENSG00000204022	ENST00000371939	T	0.74737	-0.87	4.2	4.2	0.49525	Partial AB-hydrolase lipase domain (1);	0.346678	0.21173	N	0.078960	D	0.83617	0.5293	M	0.78916	2.43	0.29643	N	0.844531	D	0.89917	1.0	D	0.71870	0.975	T	0.79127	-0.1931	10	0.56958	D	0.05	-26.2553	9.7255	0.40328	0.3241:0.6758:0.0:0.0	.	58	Q5W064	LIPJ_HUMAN	C	58	ENSP00000361007:S58C	ENSP00000361007:S58C	S	+	2	0	LIPJ	90343725	0.981000	0.34729	0.996000	0.52242	0.908000	0.53690	2.958000	0.49145	2.327000	0.79052	0.543000	0.68304	TCT	LIPJ	-	pfam_AB_hydrolase_lipase		0.383	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2	C	XM_084377		90353745	1	no_errors	ENST00000371939	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90353745	C	G	90353745	3	3	81	1	0	0	0	0	1	0	0	0	8847	913	32	1	183	1	LIPJ	10	90353745	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	34264350	90353745	45181002	62	12489										
PYROXD2	84795	genome.wustl.edu	37	chr10	100150489	100150489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gcattgggggccgccaggaaGctgggcagcctgtctacggc	17	12	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:100150489G>T	ENST00000370575.4	-	12	1206	c.1158C>A	c.(1156-1158)agC>agA	p.S386R	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	386							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCGCCAGGAAGCTGGGCAGCC	0.627																																																	0													27	23	24					10																	100150489		2202	4298	6500	SO:0001583	missense	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1158C>A	10.37:g.100150489G>T	ENSP00000359607:p.Ser386Arg		D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.S386R	ENST00000370575.4	37	c.1158	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	G	9.524	1.109175	0.20714	.	.	ENSG00000119943	ENST00000370575	T	0.57752	0.38	4.97	4.97	0.65823	.	0.462724	0.26616	N	0.023395	T	0.33059	0.0850	N	0.16098	0.37	0.37865	D	0.929852	B	0.02656	0.0	B	0.04013	0.001	T	0.23904	-1.0175	10	0.15066	T	0.55	-18.3955	12.3453	0.55118	0.0829:0.0:0.9171:0.0	.	386	Q8N2H3	PYRD2_HUMAN	R	386	ENSP00000359607:S386R	ENSP00000359607:S386R	S	-	3	2	PYROXD2	100140479	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	2.675000	0.46875	2.314000	0.78098	0.563000	0.77884	AGC	PYROXD2	-	NULL		0.627	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	G	NM_032709		100150489	-1	no_errors	ENST00000370575	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100150489	G	T	100150489	3	4	81	1	0	0	0	0	1	0	0	0	12897	962	34	4	607	4	PYROXD2	10	100150489	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	9796744	100150489	35384258	63	12490										
MGMT	4255	genome.wustl.edu	37	chr10	131565154	131565154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aatggcttctggcccatgaaGgccaccggttggggaagcca	14	11	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:131565154G>C	ENST00000306010.7	+	5	642	c.610G>C	c.(610-612)Ggc>Cgc	p.G204R	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	173					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GGCCCATGAAGGCCACCGGTT	0.682								Direct reversal of damage																																									0													30	32	32					10																	131565154		2203	4300	6503	SO:0001583	missense	4255			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.610G>C	10.37:g.131565154G>C	ENSP00000302111:p.Gly204Arg		Q5VY78	Missense_Mutation	SNP	pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	p.G204R	ENST00000306010.7	37	c.610	CCDS7660.2	10	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574183	0.65878	.	.	ENSG00000170430	ENST00000306010	T	0.22336	1.96	4.97	2.58	0.30949	.	0.380286	0.26612	N	0.023415	T	0.16385	0.0394	N	0.17345	0.48	0.35205	D	0.774615	D	0.65815	0.995	P	0.55112	0.769	T	0.13629	-1.0502	10	0.44086	T	0.13	.	2.4005	0.04400	0.2984:0.303:0.3986:0.0	.	204	B4DEE8	.	R	204	ENSP00000302111:G204R	ENSP00000302111:G204R	G	+	1	0	MGMT	131455144	1.000000	0.71417	0.120000	0.21714	0.014000	0.08584	4.048000	0.57390	2.318000	0.78349	0.563000	0.77884	GGC	MGMT	-	pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd		0.682	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGMT	HGNC	protein_coding	OTTHUMT00000051009.3	G	NM_002412		131565154	1	no_errors	ENST00000306010	ensembl	human	known	70_37	missense	SNP	0.933	C	C	131565154	G	C	131565154	3	2	81	1	0	0	0	0	1	0	0	0	9580	1000	35	4	628	4	MGMT	10	131565154	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	31414665	131565154	3969593	64	12491										
OR5M10	390167	genome.wustl.edu	37	chr11	56344838	56344838	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	caaatggctacatagcgatcCaatgccattgaagcaaggaa	9	9	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:56344838C>G	ENST00000526812.2	-	1	425	c.360G>C	c.(358-360)ttG>ttC	p.L120F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CATAGCGATCCAATGCCATTG	0.463																																																	0													172	155	161					11																	56344838		2007	4190	6197	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.360G>C	11.37:g.56344838C>G	ENSP00000436004:p.Leu120Phe		B9EIL9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L120F	ENST00000526812.2	37	c.360	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590444	0.13812	.	.	ENSG00000254834	ENST00000526812	T	0.00293	8.26	4.04	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.00462	-1.47	0.24000	N	0.996215	P	0.37548	0.599	B	0.32677	0.15	T	0.45687	-0.9244	9	0.45353	T	0.12	.	13.7061	0.62639	0.7948:0.2052:0.0:0.0	.	120	Q6IEU7	OR5MA_HUMAN	F	120	ENSP00000436004:L120F	ENSP00000436004:L120F	L	-	3	2	OR5M10	56101414	0.000000	0.05858	0.034000	0.17996	0.003000	0.03518	-0.764000	0.04735	-0.006000	0.14370	-0.210000	0.12710	TTG	OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	C	NM_001004741		56344838	-1	no_errors	ENST00000526812	ensembl	human	known	70_37	missense	SNP	0.101	G	G	56344838	C	G	56344838	3	3	81	1	0	0	0	0	1	0	0	0	11197	593	21	4	591	4	OR5M10	11	56344838	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		56344838	78661678	65	12492										
LPXN	9404	genome.wustl.edu	37	chr11	58295017	58295017	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttcgacaactgtgtcaggcaGaaagcacacacaaagtgctc	9	11	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:58295017G>A	ENST00000395074.2	-	9	1159	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	LPXN_ENST00000528954.1_Silent_p.F362F|LPXN_ENST00000528489.1_Silent_p.F337F	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	357	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGTCAGGCAGAAAGCACACA	0.522																																																	0													107	90	96					11																	58295017		2201	4295	6496	SO:0001819	synonymous_variant	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.1071C>T	11.37:g.58295017G>A			B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.F362	ENST00000395074.2	37	c.1086	CCDS7969.1	11																																																																																			LPXN	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.522	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	G	NM_004811		58295017	-1	no_errors	ENST00000528954	ensembl	human	known	70_37	silent	SNP	1.000	A	A	58295017	G	A	58295017	2	1	81	1	0	0	0	0	0	0	0	1	8952	933	33	1		1	LPXN	11	58295017	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	1950179	58295017	76711499	66	12493										
C11orf84	144097	genome.wustl.edu	37	chr11	63585350	63585350	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	agtgatggctgtgaggagccGaagcagcaggtgtcttggga	18	6	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:63585350G>A	ENST00000294244.4	+	2	500	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	67										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GTGAGGAGCCGAAGCAGCAGG	0.662																																																	0													55	48	50					11																	63585350		2200	4298	6498	SO:0001819	synonymous_variant	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.201G>A	11.37:g.63585350G>A			Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	NULL	p.P67	ENST00000294244.4	37	c.201	CCDS31594.1	11																																																																																			C11orf84	-	NULL		0.662	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	G	NM_138471		63585350	1	no_errors	ENST00000294244	ensembl	human	known	70_37	silent	SNP	0.095	A	A	63585350	G	A	63585350	2	1	81	1	0	0	0	0	0	0	0	1	1671	1045	37	1		1	C11orf84	11	63585350	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	5290333	63585350	71421166	67	12494										
SLC37A4	51399	genome.wustl.edu	37	chr11	118895677	118895677	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cggatgtttcgtaggaggaaGaaggcagccgtgctggccgc	17	9	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:118895677G>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000330775.7_Missense_Mutation_p.F432L|SLC37A4_ENST00000357590.5_Missense_Mutation_p.F433L|SLC37A4_ENST00000538950.1_Missense_Mutation_p.F338L|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.R231I|SLC37A4_ENST00000545985.1_Missense_Mutation_p.F411L|SLC37A4_ENST00000525102.1_5'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GTAGGAGGAAGAAGGCAGCCG	0.592																																																	0													45	52	50					11																	118895677		2017	4175	6192	SO:0001628	intergenic_variant	51399			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895677G>T			A8K3A5|B4DME1	Missense_Mutation	SNP	pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom	p.R231I	ENST00000533632.1	37	c.692	CCDS8407.1	11	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536110	0.45176	.	.	ENSG00000196655	ENST00000533058	T	0.51817	0.69	5.27	5.27	0.74061	.	.	.	.	.	T	0.51160	0.1658	L	0.41079	1.255	0.39313	D	0.9651	.	.	.	.	.	.	T	0.54642	-0.8263	7	0.87932	D	0	-24.2247	12.4044	0.55430	0.076:0.0:0.924:0.0	.	.	.	.	I	231	ENSP00000432920:R231I	ENSP00000432920:R231I	R	+	2	0	TRAPPC4	118400887	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.955000	0.70306	2.758000	0.94735	0.561000	0.74099	AGA	TRAPPC4	-	NULL		0.592	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC4	HGNC	protein_coding	OTTHUMT00000389332.1	G	NM_016146		118895677	1	no_errors	ENST00000533058	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	118895677	G	T	118895677	1	4	81	0	1	0	0	0	0	0	0	0	14630	933	33	3		3	SLC37A4	11	118895677	IGR	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	55310327	118895677	16110839	68	12495										
AKAP3	10566	genome.wustl.edu	37	chr12	4735970	4735970	+	Frame_Shift_Del	DEL	A	A	-													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tagcctactggcatctccagActtgtcatctcccagctctg					rs527978551|rs370203105|rs71441828|rs67512580|rs2041290	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:4735970delA	ENST00000545990.2	-	5	2622	c.2098delT	c.(2098-2100)tctfs	p.S700fs	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Frame_Shift_Del_p.S700fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	700			S -> F (in dbSNP:rs2041291).|S -> P (in dbSNP:rs2041290).	S -> L (in Ref. 2; AAC35854). {ECO:0000305}.	acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCATCTCCAGACTTGTCATCT	0.502																																																	0										579,3685		38,503,1591	76	65	69			0.4	0.8	12	dbSNP_94	71	1072,7176		68,936,3120	no	frameshift	AKAP3	NM_006422.2		106,1439,4711	A1A1,A1R,RR		12.9971,13.5788,13.1953			4735970	1651,10861	2203	4300	6503	SO:0001589	frameshift_variant	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2098delT	12.37:g.4735970delA	ENSP00000440994:p.Ser700fs		O75945|Q86X01|Q9UM61	Frame_Shift_Del	DEL	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S700fs	ENST00000545990.2	37	c.2098	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.502	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	A	NM_006422		4735970	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	frame_shift_del	DEL	0.745	-	-	4735970	A	-	4735970	7	5	81	1	0	1	0	1	0	0	0	0	452	275	10	0	471	0	AKAP3	12	4735970	Frame_Shift_Del	DEL	A	TCGA-EA-A43B-01A-81D-A243-09		4735970	129115925	69	12496										
RECQL	5965	genome.wustl.edu	37	chr12	21624448	21624448	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gccacaacacctgctactctCagttttgctgcaccctttcc	5	17	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:21624448C>T	ENST00000444129.2	-	13	2049	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	RECQL_ENST00000421138.2_Silent_p.L527L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	527					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGCTACTCTCAGTTTTGCTG	0.423								Other identified genes with known or suspected DNA repair function																																									0													141	127	132					12																	21624448		2203	4300	6503	SO:0001819	synonymous_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1581G>A	12.37:g.21624448C>T			A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L527	ENST00000444129.2	37	c.1581	CCDS31756.1	12																																																																																			RECQL	-	pfam_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ		0.423	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	C	NM_002907		21624448	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	silent	SNP	0.040	T	T	21624448	C	T	21624448	2	4	81	1	0	0	0	0	0	0	0	1	13231	813	29	1		1	RECQL	12	21624448	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	16888478	21624448	112227447	70	12497										
YARS2	51067	genome.wustl.edu	37	chr12	32906904	32906904	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gaattgatacaattcaaatgGagatgtcttatctctgttta	7	5	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:32906904G>C	ENST00000324868.8	-	2	922	c.895C>G	c.(895-897)Cca>Gca	p.P299A		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	299					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATTCAAATGGAGATGTCTTA	0.418																																																	0													150	138	142					12																	32906904		2203	4300	6503	SO:0001583	missense	51067			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.895C>G	12.37:g.32906904G>C	ENSP00000320658:p.Pro299Ala		D3DUW8|Q9H817	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.P299A	ENST00000324868.8	37	c.895	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444912	0.83993	.	.	ENSG00000139131	ENST00000324868	T	0.52057	0.68	5.33	5.33	0.75918	.	0.063690	0.64402	D	0.000005	T	0.54464	0.1860	M	0.64997	1.995	0.80722	D	1	D	0.55385	0.971	P	0.47251	0.542	T	0.60485	-0.7254	10	0.72032	D	0.01	-24.4349	17.637	0.88125	0.0:0.0:1.0:0.0	.	299	Q9Y2Z4	SYYM_HUMAN	A	299	ENSP00000320658:P299A	ENSP00000320658:P299A	P	-	1	0	YARS2	32798171	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	6.375000	0.73137	2.673000	0.90976	0.650000	0.86243	CCA	YARS2	-	pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase		0.418	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	G	NM_015936		32906904	-1	no_errors	ENST00000324868	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32906904	G	C	32906904	3	2	81	1	0	0	0	0	1	0	0	0	17499	1174	41	1	554	1	YARS2	12	32906904	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	11282456	32906904	100944991	71	12498										
LRRK2	120892	genome.wustl.edu	37	chr12	40699758	40699758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	atataggatgtaaagccaaaGacatcataaggttagataat	8	4	1	2	rs573327331		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:40699758G>C	ENST00000298910.7	+	28	4007	c.3949G>C	c.(3949-3951)Gac>Cac	p.D1317H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1317					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D1317Y(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAGCCAAAGACATCATAAG	0.289																																																	2	Substitution - Missense(2)	large_intestine(2)											47	45	46					12																	40699758		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3949G>C	12.37:g.40699758G>C	ENSP00000298910:p.Asp1317His		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.D1317H	ENST00000298910.7	37	c.3949	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596278	0.86953	.	.	ENSG00000188906	ENST00000298910	T	0.74209	-0.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.82721	-0.0317	10	0.87932	D	0	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	1317;1317	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	1317	ENSP00000298910:D1317H	ENSP00000298910:D1317H	D	+	1	0	LRRK2	38986025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.352000	0.97076	2.732000	0.93576	0.655000	0.94253	GAC	LRRK2	-	NULL		0.289	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40699758	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40699758	G	C	40699758	3	2	81	1	0	0	0	0	1	0	0	0	9056	942	33	1	4059	1	LRRK2	12	40699758	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	7792854	40699758	93152137	72	12499										
LETMD1	25875	genome.wustl.edu	37	chr12	51442167	51442167	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tctccagggtgtgctgggctCggtcggctgtgtggggctcg	19	10	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:51442167C>G	ENST00000262055.4	+	1	67	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G	LETMD1_ENST00000552739.1_Missense_Mutation_p.R10G|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Missense_Mutation_p.R10G|LETMD1_ENST00000380123.2_Missense_Mutation_p.R10G|LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000418425.2_Missense_Mutation_p.R10G	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	10	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTGCTGGGCTCGGTCGGCTGT	0.622											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	98	95					12																	51442167		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.28C>G	12.37:g.51442167C>G	ENSP00000262055:p.Arg10Gly	977	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.R10G	ENST00000262055.4	37	c.28	CCDS8806.1	12	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902903	0.33628	.	.	ENSG00000050426	ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739	T;T;T;T;T;T;T;T;T	0.53857	0.74;0.71;0.6;0.65;0.65;0.67;0.71;0.74;0.66	4.69	4.69	0.59074	.	0.087637	0.45126	D	0.000391	T	0.57388	0.2050	N	0.24115	0.695	0.34714	D	0.728049	D;P;D;D;P;P;D	0.76494	0.999;0.924;0.958;0.986;0.872;0.924;0.983	D;P;P;P;P;P;P	0.70935	0.971;0.738;0.532;0.872;0.518;0.656;0.627	T	0.67118	-0.5751	10	0.66056	D	0.02	-9.2232	13.4282	0.61039	0.0:1.0:0.0:0.0	.	10;10;10;10;10;10;10	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;F8VP71;Q6P1Q0	.;.;.;.;.;.;LTMD1_HUMAN	G	10	ENSP00000262055:R10G;ENSP00000448110:R10G;ENSP00000449896:R10G;ENSP00000450275:R10G;ENSP00000447166:R10G;ENSP00000369466:R10G;ENSP00000450082:R10G;ENSP00000389903:R10G;ENSP00000447419:R10G	ENSP00000262055:R10G	R	+	1	2	LETMD1	49728434	0.997000	0.39634	0.930000	0.37139	0.035000	0.12851	1.802000	0.38853	2.885000	0.99019	0.655000	0.94253	CGG	LETMD1	-	NULL		0.622	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	C	NM_015416		51442167	1	no_errors	ENST00000262055	ensembl	human	known	70_37	missense	SNP	0.939	G	G	51442167	C	G	51442167	3	3	81	1	0	0	0	0	1	0	0	0	8756	875	31	1	30	1	LETMD1	12	51442167	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	10742409	51442167	82409728	73	12500										
ESPL1	9700	genome.wustl.edu	37	chr12	53687103	53687103	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	atgtgactgaccgcgacattGaccgctacacggaagctctg	11	12	1	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:53687103G>C	ENST00000257934.4	+	31	6299	c.6208G>C	c.(6208-6210)Gac>Cac	p.D2070H	PFDN5_ENST00000551018.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.D2070H|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000550846.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2070					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCGCGACATTGACCGCTACAC	0.532																																					Colon(53;1069 1201 2587 5382)												0													60	60	60					12																	53687103		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6208G>C	12.37:g.53687103G>C	ENSP00000257934:p.Asp2070His			Missense_Mutation	SNP	pfam_Peptidase_C50	p.D2070H	ENST00000257934.4	37	c.6208	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224755	0.79576	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.68025	-0.3;-0.3	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.84615	0.5511	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87507	0.2437	10	0.87932	D	0	.	17.2395	0.87009	0.0:0.0:1.0:0.0	.	2070	Q14674	ESPL1_HUMAN	H	2070;1745;2070	ENSP00000257934:D2070H;ENSP00000449831:D2070H	ENSP00000257934:D2070H	D	+	1	0	ESPL1	51973370	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.207000	0.95064	2.692000	0.91855	0.563000	0.77884	GAC	ESPL1	-	NULL		0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	G	NM_012291		53687103	1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53687103	G	C	53687103	3	2	81	1	0	0	0	0	1	0	0	0	5265	1290	45	1	6326	1	ESPL1	12	53687103	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	2244936	53687103	80164792	74	12501										
PDE1B	5153	genome.wustl.edu	37	chr12	54960780	54960780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgcgctacatggtgaagcagTtggagaatggggagataaac	15	5	0	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:54960780T>C	ENST00000243052.3	+	3	572	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L	PDE1B_ENST00000550620.1_Silent_p.L26L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.L5L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	46	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GGTGAAGCAGTTGGAGAATGG	0.488																																																	0													96	93	94					12																	54960780		2203	4300	6503	SO:0001819	synonymous_variant	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.136T>C	12.37:g.54960780T>C			Q92825|Q96KP3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L46	ENST00000243052.3	37	c.136	CCDS8882.1	12																																																																																			PDE1B	-	NULL		0.488	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	T			54960780	1	no_errors	ENST00000243052	ensembl	human	known	70_37	silent	SNP	1.000	C	C	54960780	T	C	54960780	2	2	81	1	0	0	0	0	0	0	0	1	11658	1722	60	5		5	PDE1B	12	54960780	Silent	SNP	T	TCGA-EA-A43B-01A-81D-A243-09	1273677	54960780	78891115	75	12502										
MYO1H	283446	genome.wustl.edu	37	chr12	109877536	109877536	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acatcttgaatctccggtatCaccttccaaagactgtcctg	6	13	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:109877536C>T	ENST00000431443.2	+	23	2377	c.2377C>T	c.(2377-2379)Cac>Tac	p.H793Y	MYO1H_ENST00000310903.5_Missense_Mutation_p.H783Y	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	793						myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCTCCGGTATCACCTTCCAAA	0.458																																																	0													83	79	81					12																	109877536		1950	4154	6104	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2377C>T	12.37:g.109877536C>T	ENSP00000444076:p.His793Tyr		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H793Y	ENST00000431443.2	37	c.2377		12	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114399	0.56505	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87571	-2.25;-2.27	5.43	5.43	0.79202	.	.	.	.	.	D	0.90130	0.6916	M	0.67953	2.075	0.36804	D	0.885521	D	0.58268	0.982	P	0.52909	0.713	D	0.92035	0.5636	9	0.48119	T	0.1	.	16.7533	0.85492	0.0:1.0:0.0:0.0	.	783	F5H3C6	.	Y	783;793	ENSP00000439182:H783Y;ENSP00000444076:H793Y	ENSP00000439182:H783Y	H	+	1	0	MYO1H	108361919	1.000000	0.71417	0.162000	0.22713	0.475000	0.33008	5.339000	0.65953	2.543000	0.85770	0.655000	0.94253	CAC	MYO1H	-	NULL		0.458	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		C	NM_173597		109877536	1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	0.892	T	T	109877536	C	T	109877536	3	4	81	1	0	0	0	0	1	0	0	0	10098	826	29	1	2437	1	MYO1H	12	109877536	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	54916756	109877536	23974359	76	12503										
LRRC43	254050	genome.wustl.edu	37	chr12	122685138	122685140	+	In_Frame_Del	DEL	AAA	AAA	-													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cccctgtctgccaagaaaggAaagggggagaaagacaagaa					rs151331994|rs79635862	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:122685138_122685140delAAA	ENST00000339777.4	+	9	1579_1581	c.1551_1553delAAA	c.(1549-1554)ggaaag>ggg	p.K518del	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_In_Frame_Del_p.K333del	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	518	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCaagaaaggaaagggggagaaa	0.591																																																	0									,	22,3716		0,22,1847					,	3.2	0		dbSNP_134	110	185,7741		0,185,3778	no	coding,coding	LRRC43	NM_152759.4,NM_001098519.1	,	0,207,5625	A1A1,A1R,RR		2.3341,0.5886,1.7747	,	,		207,11457				SO:0001651	inframe_deletion	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1551_1553delAAA	12.37:g.122685138_122685140delAAA	ENSP00000344233:p.Lys518del		Q6ZVT9	In_Frame_Del	DEL	NULL	p.K518in_frame_del	ENST00000339777.4	37	c.1551_1553	CCDS45001.1	12																																																																																			LRRC43	-	NULL		0.591	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	AAA	NM_152759		122685140	1	no_errors	ENST00000339777	ensembl	human	known	70_37	in_frame_del	DEL	0.115:0.128:0.123	-	-	122685140	AAA	-	122685138	7	5	81	1	0	1	0	1	0	0	0	0	9024	233	9	0	1585	0	LRRC43	12	122685138	In_Frame_Del	DEL	AAA	TCGA-EA-A43B-01A-81D-A243-09	12807602	122685138	11166757	77	12504										
DHX37	57647	genome.wustl.edu	37	chr12	125432666	125432666	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ccaagcagccagcaaggcttCatggcagtcagccttctctg	10	14	3	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:125432666C>T	ENST00000308736.2	-	26	3450	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	DHX37_ENST00000544745.1_Missense_Mutation_p.E905K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1118							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCAAGGCTTCATGGCAGTCA	0.612																																																	0													77	68	71					12																	125432666		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3352G>A	12.37:g.125432666C>T	ENSP00000311135:p.Glu1118Lys		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1118K	ENST00000308736.2	37	c.3352	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246686	0.10130	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03035	4.16;4.07	5.67	4.77	0.60923	.	0.487974	0.25593	N	0.029608	T	0.03739	0.0106	L	0.39245	1.2	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.12837	0.008;0.005	T	0.42616	-0.9441	10	0.13853	T	0.58	-11.8201	11.0963	0.48145	0.0:0.8579:0.0:0.1421	.	905;1118	F5H3Y4;Q8IY37	.;DHX37_HUMAN	K	1118;905	ENSP00000311135:E1118K;ENSP00000439009:E905K	ENSP00000311135:E1118K	E	-	1	0	DHX37	123998619	0.690000	0.27699	0.035000	0.18076	0.046000	0.14306	2.460000	0.45031	2.686000	0.91538	0.561000	0.74099	GAA	DHX37	-	NULL		0.612	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		C	NM_032656		125432666	-1	no_errors	ENST00000308736	ensembl	human	known	70_37	missense	SNP	0.056	T	T	125432666	C	T	125432666	3	4	81	1	0	0	0	0	1	0	0	0	4520	835	29	1	129	1	DHX37	12	125432666	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	2747528	125432666	8419229	78	12505										
DCLK1	9201	genome.wustl.edu	37	chr13	36700236	36700236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctctgcgccttatcccgctcGtcgaagtgctccagctccat	8	17	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:36700236G>T	ENST00000360631.3	-	2	250	c.39C>A	c.(37-39)gaC>gaA	p.D13E	DCLK1_ENST00000379892.4_Missense_Mutation_p.D13E|DCLK1_ENST00000255448.4_Missense_Mutation_p.D13E			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	13					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TATCCCGCTCGTCGAAGTGCT	0.597																																																	0													59	60	60					13																	36700236		2203	4300	6503	SO:0001583	missense	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.39C>A	13.37:g.36700236G>T	ENSP00000353846:p.Asp13Glu		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.D13E	ENST00000360631.3	37	c.39		13	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759162	0.31137	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.67523	-0.27;-0.26;1.92	5.67	-2.9	0.05648	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.37750	1.13	0.44323	D	0.997203	B	0.21821	0.061	B	0.30316	0.114	T	0.40942	-0.9536	10	0.06625	T	0.88	.	12.0014	0.53232	0.5966:0.0:0.4034:0.0	.	13	O15075-2	.	E	13	ENSP00000255448:D13E;ENSP00000353846:D13E;ENSP00000369222:D13E	ENSP00000255448:D13E	D	-	3	2	DCLK1	35598236	0.954000	0.32549	0.967000	0.41034	0.998000	0.95712	0.127000	0.15790	-0.466000	0.06943	0.655000	0.94253	GAC	DCLK1	-	NULL		0.597	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	G	NM_004734		36700236	-1	no_errors	ENST00000360631	ensembl	human	known	70_37	missense	SNP	0.998	T	T	36700236	G	T	36700236	3	4	81	1	0	0	0	0	1	0	0	0	4296	1136	40	2	2218	2	DCLK1	13	36700236	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		36700236	78469642	79	12506										
FREM2	341640	genome.wustl.edu	37	chr13	39264032	39264032	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	accacatcctgagtgagacaGagttgcacgtgaatgatgta	11	8	0	5			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:39264032G>C	ENST00000280481.7	+	1	2767	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	851					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGTGAGACAGAGTTGCACGT	0.502																																																	0													115	107	110					13																	39264032		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2551G>C	13.37:g.39264032G>C	ENSP00000280481:p.Glu851Gln		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E851Q	ENST00000280481.7	37	c.2551	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	9.158	1.018040	0.19355	.	.	ENSG00000150893	ENST00000280481	T	0.29142	1.58	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.84082	2.675	0.80722	D	1	P	0.36660	0.564	B	0.38327	0.271	T	0.35001	-0.9806	10	0.20046	T	0.44	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	851	Q5SZK8	FREM2_HUMAN	Q	851	ENSP00000280481:E851Q	ENSP00000280481:E851Q	E	+	1	0	FREM2	38162032	1.000000	0.71417	0.957000	0.39632	0.476000	0.33039	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	GAG	FREM2	-	NULL		0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39264032	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39264032	G	C	39264032	3	2	81	1	0	0	0	0	1	0	0	0	6063	943	33	1	2553	1	FREM2	13	39264032	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	2563796	39264032	75905846	80	12507										
PCDH20	64881	genome.wustl.edu	37	chr13	61987728	61987728	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gagtcagaaggagaggaggaGatggaaacgctgccgctcca	16	8	1	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:61987728G>A	ENST00000409186.1	-	5	2609	c.504C>T	c.(502-504)atC>atT	p.I168I	PCDH20_ENST00000409204.4_Silent_p.I168I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	168	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGAGGAGATGGAAACGC	0.562																																																	0													84	66	72					13																	61987728		2203	4300	6503	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.504C>T	13.37:g.61987728G>A			A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I168	ENST00000409186.1	37	c.504	CCDS9442.2	13																																																																																			PCDH20	-	pfscan_Cadherin		0.562	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	G	NM_022843		61987728	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	silent	SNP	0.979	A	A	61987728	G	A	61987728	2	1	81	1	0	0	0	0	0	0	0	1	11539	932	33	1		1	PCDH20	13	61987728	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	22723696	61987728	53182150	81	12508										
OR4N5	390437	genome.wustl.edu	37	chr14	20612227	20612227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cattttcttggagcgggagaGatgttcctcctcgttgtgat	12	8	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:20612227G>C	ENST00000333629.1	+	1	333	c.333G>C	c.(331-333)gaG>gaC	p.E111D	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAGCGGGAGAGATGTTCCTCC	0.478																																																	0													136	135	136					14																	20612227		2203	4300	6503	SO:0001583	missense	390437				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.333G>C	14.37:g.20612227G>C	ENSP00000332110:p.Glu111Asp		Q6IF11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E111D	ENST00000333629.1	37	c.333	CCDS32031.1	14	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806542	0.31961	.	.	ENSG00000184394	ENST00000333629	T	0.00354	7.92	4.0	0.0501	0.14292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000464	T	0.00384	0.0012	L	0.37466	1.105	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.55805	-0.8083	10	0.39692	T	0.17	.	7.8459	0.29424	0.399:0.0:0.601:0.0	.	111	Q8IXE1	OR4N5_HUMAN	D	111	ENSP00000332110:E111D	ENSP00000332110:E111D	E	+	3	2	OR4N5	19682067	0.000000	0.05858	0.953000	0.39169	0.862000	0.49288	-0.208000	0.09371	0.116000	0.18110	-0.136000	0.14681	GAG	OR4N5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N5	HGNC	protein_coding	OTTHUMT00000410347.1	G			20612227	1	no_errors	ENST00000333629	ensembl	human	known	70_37	missense	SNP	0.000	C	C	20612227	G	C	20612227	3	2	81	1	0	0	0	0	1	0	0	0	11103	933	33	1	335	1	OR4N5	14	20612227	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		20612227	86737313	82	12509										
CMA1	1215	genome.wustl.edu	37	chr14	24977403	24977403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ccagcttcagctctggagcaCaagagaaagagcagcagggg	14	10	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:24977403C>T	ENST00000250378.3	-	1	68	c.39G>A	c.(37-39)ttG>ttA	p.L13L	CMA1_ENST00000206446.4_De_novo_Start_InFrame|RP11-80A15.1_ENST00000555109.1_Nonsense_Mutation_p.Q69*	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	13					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CTCTGGAGCACAAGAGAAAGA	0.473																																																	0													66	66	66					14																	24977403		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.39G>A	14.37:g.24977403C>T			B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Nonsense_Mutation	SNP	NULL	p.Q69*	ENST00000250378.3	37	c.205	CCDS9630.1	14	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426284	0.25726	.	.	ENSG00000258744	ENST00000555109	.	.	.	5.31	-9.04	0.00734	.	.	.	.	.	.	.	.	.	.	.	0.26158	N	0.98004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1974	0.06637	0.0993:0.2248:0.1951:0.4808	.	.	.	.	X	69	.	.	Q	+	1	0	RP11-80A15.1	24047243	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.219000	0.00553	-2.364000	0.00607	-0.773000	0.03387	CAA	RP11-80A15.1	-	NULL		0.473	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258744	Clone_based_vega_gene	protein_coding	OTTHUMT00000276535.2	C			24977403	1	no_errors	ENST00000555109	ensembl	human	putative	70_37	nonsense	SNP	0.000	T	T	24977403	C	T	24977403	2	4	81	1	0	0	0	0	0	0	0	1	3579	477	17	4		4	CMA1	14	24977403	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	4365176	24977403	82372137	83	12510										
FAM179B	23116	genome.wustl.edu	37	chr14	45465012	45465012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctcaaggaatgccagtcaatGatgatttatgttttagcaga	9	6	2	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:45465012G>A	ENST00000361577.3	+	2	2324	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	FAM179B_ENST00000382233.2_Missense_Mutation_p.D704N|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.D704N	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	704										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCCAGTCAATGATGATTTATG	0.318																																																	0													92	90	91					14																	45465012		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2110G>A	14.37:g.45465012G>A	ENSP00000355045:p.Asp704Asn		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D704N	ENST00000361577.3	37	c.2110	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672511	0.88348	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.04015	3.73;3.73;3.73;3.73	5.42	5.42	0.78866	Armadillo-type fold (1);	0.000000	0.56097	D	0.000028	T	0.12561	0.0305	L	0.27053	0.805	0.40482	D	0.98045	D;D;D;D	0.76494	0.991;0.999;0.996;0.991	P;D;D;P	0.72338	0.895;0.977;0.922;0.895	T	0.03453	-1.1035	10	0.72032	D	0.01	-17.1076	15.924	0.79597	0.0:0.0:1.0:0.0	.	704;704;704;704	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	N	704;704;704;704;23	ENSP00000355045:D704N;ENSP00000354917:D704N;ENSP00000371668:D704N;ENSP00000451141:D23N	ENSP00000354917:D704N	D	+	1	0	FAM179B	44534762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.462000	0.66707	2.554000	0.86153	0.585000	0.79938	GAT	FAM179B	-	superfamily_ARM-type_fold		0.318	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	G	XM_113781		45465012	1	no_errors	ENST00000361577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45465012	G	A	45465012	3	1	81	1	0	0	0	0	1	0	0	0	5521	1290	45	1	2116	1	FAM179B	14	45465012	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	20487609	45465012	61884528	84	12511										
MDGA2	161357	genome.wustl.edu	37	chr14	47343356	47343356	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aaaattatctgtatcatcttGagtgaacaaacaaatattac	4	6	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:47343356G>C	ENST00000399232.2	-	13	2642	c.2278C>G	c.(2278-2280)Caa>Gaa	p.Q760E	MDGA2_ENST00000439988.3_Missense_Mutation_p.Q829E|MDGA2_ENST00000357362.3_Missense_Mutation_p.Q531E|MDGA2_ENST00000426342.1_Missense_Mutation_p.Q531E|MDGA2_ENST00000399222.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	760	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTATCATCTTGAGTGAACAAA	0.303																																																	0													127	117	120					14																	47343356		1819	4081	5900	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2278C>G	14.37:g.47343356G>C	ENSP00000382178:p.Gln760Glu		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.Q829E	ENST00000399232.2	37	c.2485		14	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576384	0.86645	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.47455	U	0.000238	T	0.24314	0.0589	M	0.93241	3.395	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.989;0.999	T	0.08289	-1.0729	10	0.72032	D	0.01	.	18.3577	0.90364	0.0:0.0:1.0:0.0	.	531;760	F6W3S7;Q7Z553	.;MDGA2_HUMAN	E	760;531;829;531	ENSP00000400011:Q760E;ENSP00000405456:Q531E;ENSP00000382178:Q829E;ENSP00000349925:Q531E	ENSP00000349925:Q531E	Q	-	1	0	MDGA2	46413106	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	9.476000	0.97823	2.668000	0.90789	0.563000	0.77884	CAA	MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.303	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47343356	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47343356	G	C	47343356	3	2	81	1	0	0	0	0	1	0	0	0	9430	1299	45	1	612	1	MDGA2	14	47343356	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	1878344	47343356	60006184	85	12512										
PCNX	22990	genome.wustl.edu	37	chr14	71489920	71489920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttctgtttcatttttagagtGttcaaccagattcttcttct	5	8	6	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:71489920G>T	ENST00000304743.2	+	13	3600	c.3154G>T	c.(3154-3156)Gtt>Ttt	p.V1052F	PCNX_ENST00000238570.5_Missense_Mutation_p.V1052F|PCNX_ENST00000439984.3_Missense_Mutation_p.V941F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1052						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTTTAGAGTGTTCAACCAGA	0.303																																																	0													187	176	180					14																	71489920		2203	4299	6502	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3154G>T	14.37:g.71489920G>T	ENSP00000304192:p.Val1052Phe		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.V1052F	ENST00000304743.2	37	c.3154	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847873	0.91277	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.75938	-0.98;-0.98;-0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88614	0.6484	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.991	D	0.89861	0.4016	10	0.87932	D	0	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	941;1052	B2RTR6;Q96RV3	.;PCX1_HUMAN	F	1052;1052;941	ENSP00000304192:V1052F;ENSP00000238570:V1052F;ENSP00000396617:V941F	ENSP00000238570:V1052F	V	+	1	0	PCNX	70559673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.746000	0.94184	0.655000	0.94253	GTT	PCNX	-	NULL		0.303	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	G	NM_014982		71489920	1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71489920	G	T	71489920	3	4	81	1	0	0	0	0	1	0	0	0	11615	1377	48	4	3204	4	PCNX	14	71489920	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	24146564	71489920	35859620	86	12513										
RTL1	388015	genome.wustl.edu	37	chr14	101347453	101347453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gacgacatcctcatcaccaaCgacgtgcagctccaggtagc	9	15	2	0	rs375169836		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:101347453C>T	ENST00000534062.1	-	1	3731	c.3673G>A	c.(3673-3675)Gtt>Att	p.V1225I	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1225					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.V1225I(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCATCACCAACGACGTGCAGC	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		17662	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	skin(1)						C	ILE/VAL	1,3133		0,1,1566	18	18	18		3673	1.5	0.6	14		18	0,7160		0,0,3580	no	missense	RTL1	NM_001134888.2	29	0,1,5146	TT,TC,CC		0.0,0.0319,0.0097	possibly-damaging	1225/1359	101347453	1,10293	1567	3580	5147	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3673G>A	14.37:g.101347453C>T	ENSP00000435342:p.Val1225Ile		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.V1225I	ENST00000534062.1	37	c.3673	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199505	0.38806	3.19E-4	0.0	ENSG00000254656	ENST00000534062	T	0.21932	1.98	3.33	1.49	0.22878	.	0.773939	0.10190	N	0.704726	T	0.13500	0.0327	L	0.27053	0.805	0.09310	N	1	B	0.21147	0.052	B	0.09377	0.004	T	0.26018	-1.0115	10	0.59425	D	0.04	.	5.5406	0.17036	0.0:0.7412:0.0:0.2588	.	1225	E9PKS8	.	I	1225	ENSP00000435342:V1225I	ENSP00000435342:V1225I	V	-	1	0	RTL1	100417206	0.823000	0.29233	0.565000	0.28409	0.988000	0.76386	0.357000	0.20199	0.416000	0.25844	0.655000	0.94253	GTT	RTL1	-	NULL		0.612	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101347453	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.211	T	T	101347453	C	T	101347453	3	4	81	1	0	0	0	0	1	0	0	0	13754	536	19	2	407	2	RTL1	14	101347453	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	29857533	101347453	6002087	87	12514										
UNC13C	440279	genome.wustl.edu	37	chr15	54817750	54817750	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttatggtctctctgcagctaGattctgaagctagtactatt	8	8	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:54817750G>C	ENST00000260323.11	+	24	5461	c.5461G>C	c.(5461-5463)Gat>Cat	p.D1821H	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1821H|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1819H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1821					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTGCAGCTAGATTCTGAAGC	0.393																																																	0													80	77	78					15																	54817750		1863	4113	5976	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5461G>C	15.37:g.54817750G>C	ENSP00000260323:p.Asp1821His		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.D1821H	ENST00000260323.11	37	c.5461	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442965	0.83993	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.20738	2.05;2.05;2.05	5.89	5.89	0.94794	.	0.099961	0.64402	D	0.000003	T	0.47451	0.1446	M	0.76838	2.35	0.58432	D	0.999992	D	0.71674	0.998	P	0.60789	0.879	T	0.41197	-0.9522	10	0.59425	D	0.04	.	19.2409	0.93883	0.0:0.0:1.0:0.0	.	1821	Q8NB66	UN13C_HUMAN	H	1821;1821;1819	ENSP00000260323:D1821H;ENSP00000438156:D1821H;ENSP00000442569:D1819H	ENSP00000260323:D1821H	D	+	1	0	UNC13C	52605042	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.202000	0.89737	2.788000	0.95919	0.557000	0.71058	GAT	UNC13C	-	NULL		0.393	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	G	NM_173166		54817750	1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54817750	G	C	54817750	3	2	81	1	0	0	0	0	1	0	0	0	17017	942	33	1	5551	1	UNC13C	15	54817750	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		54817750	47713642	88	12515										
CGNL1	84952	genome.wustl.edu	37	chr15	57730626	57730626	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gtgaagccatctcacctgctGaactttcagaggcatccaga	9	12	2	4			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:57730626G>T	ENST00000281282.5	+	2	507	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	143	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTCACCTGCTGAACTTTCAGA	0.458																																																	0													57	57	57					15																	57730626		2192	4292	6484	SO:0001819	synonymous_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.429G>T	15.37:g.57730626G>T			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.L143	ENST00000281282.5	37	c.429	CCDS10161.1	15																																																																																			CGNL1	-	NULL		0.458	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	G	NM_032866		57730626	1	no_errors	ENST00000281282	ensembl	human	known	70_37	silent	SNP	0.989	T	T	57730626	G	T	57730626	2	4	81	1	0	0	0	0	0	0	0	1	3309	1277	45	3		3	CGNL1	15	57730626	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	2912876	57730626	44800766	89	12516										
TSC2	7249	genome.wustl.edu	37	chr16	2111884	2111884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tactgcagaccttggacagcCcggagctcaggaccatcgtc	11	14	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr16:2111884C>A	ENST00000219476.3	+	12	1762	c.1132C>A	c.(1132-1134)Ccg>Acg	p.P378T	TSC2_ENST00000439673.2_Missense_Mutation_p.P341T|TSC2_ENST00000353929.4_Missense_Mutation_p.P378T|TSC2_ENST00000382538.6_Missense_Mutation_p.P329T|TSC2_ENST00000401874.2_Missense_Mutation_p.P378T|TSC2_ENST00000350773.4_Missense_Mutation_p.P378T|TSC2_ENST00000568454.1_Missense_Mutation_p.P389T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	378	Required for interaction with TSC1.		P -> L (in dbSNP:rs45517154).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTTGGACAGCCCGGAGCTCAG	0.587			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													110	94	100					16																	2111884		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1132C>A	16.37:g.2111884C>A	ENSP00000219476:p.Pro378Thr		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.P378T	ENST00000219476.3	37	c.1132	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452758	0.26074	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.29	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.243810	0.42682	D	0.000670	T	0.74152	0.3679	L	0.29908	0.895	0.38359	D	0.944564	B;B;B;B;B;B	0.21225	0.036;0.002;0.014;0.029;0.029;0.053	B;B;B;B;B;B	0.32928	0.155;0.025;0.039;0.138;0.075;0.082	T	0.72697	-0.4215	10	0.46703	T	0.11	-19.2659	13.633	0.62206	0.0:0.9251:0.0:0.0749	.	329;341;378;378;378;378	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	T	378;378;378;341;329;378	ENSP00000219476:P378T;ENSP00000384468:P378T;ENSP00000248099:P378T;ENSP00000399232:P341T;ENSP00000371978:P329T;ENSP00000344383:P378T	ENSP00000219476:P378T	P	+	1	0	TSC2	2051885	1.000000	0.71417	0.992000	0.48379	0.062000	0.15995	3.621000	0.54210	1.229000	0.43630	0.561000	0.74099	CCG	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.587	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2111884	1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2111884	C	A	2111884	3	1	81	1	0	0	0	0	1	0	0	0	16637	623	22	4	1174	4	TSC2	16	2111884	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		2111884	88242869	90	12517										
ATMIN	23300	genome.wustl.edu	37	chr16	81077959	81077959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tttgtctgacacaaatcctgGacctgacacccagctcccat	6	15	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr16:81077959G>A	ENST00000299575.4	+	4	1880	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.G463E|ATMIN_ENST00000566488.1_Missense_Mutation_p.G463E	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	619					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACAAATCCTGGACCTGACACC	0.438																																																	0													37	38	37					16																	81077959		2202	4300	6502	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1856G>A	16.37:g.81077959G>A	ENSP00000299575:p.Gly619Glu		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.G619E	ENST00000299575.4	37	c.1856	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665563	0.67700	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37752	1.18	6.17	4.18	0.49190	.	0.144183	0.64402	D	0.000007	T	0.33556	0.0867	M	0.75447	2.3	0.38845	D	0.956154	B	0.32829	0.386	B	0.24269	0.052	T	0.30851	-0.9964	10	0.72032	D	0.01	-12.1197	7.1813	0.25774	0.1789:0.1397:0.6814:0.0	.	619	O43313	ATMIN_HUMAN	E	619;390	ENSP00000299575:G619E	ENSP00000299575:G619E	G	+	2	0	ATMIN	79635460	0.982000	0.34865	0.992000	0.48379	0.995000	0.86356	2.098000	0.41757	0.892000	0.36259	0.655000	0.94253	GGA	ATMIN	-	NULL		0.438	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	G	NM_015251		81077959	1	no_errors	ENST00000299575	ensembl	human	known	70_37	missense	SNP	0.819	A	A	81077959	G	A	81077959	3	1	81	1	0	0	0	0	1	0	0	0	1111	1174	41	1	1870	1	ATMIN	16	81077959	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	78966075	81077959	9276794	91	12518										
SHMT1	6470	genome.wustl.edu	37	chr17	18250855	18250855	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	atggacgtggcagagattttCttcttgtctgtcatgaaccc	10	9	4	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:18250855C>A	ENST00000316694.3	-	5	608	c.474G>T	c.(472-474)aaG>aaT	p.K158N	SHMT1_ENST00000354098.3_Missense_Mutation_p.K158N|SHMT1_ENST00000352886.6_Missense_Mutation_p.K158N|SHMT1_ENST00000539052.1_Missense_Mutation_p.K20N	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	158					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CAGAGATTTTCTTCTTGTCTG	0.512																																																	0													138	138	138					17																	18250855		2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.474G>T	17.37:g.18250855C>A	ENSP00000318868:p.Lys158Asn		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Nonsense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pfscan_Josephin	p.E120*	ENST00000316694.3	37	c.358	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345991	0.82022	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.28	4.31	0.51392	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044381	0.85682	D	0.000000	T	0.74764	0.3759	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.986;0.994	D;D;P;D	0.78314	0.991;0.991;0.81;0.984	T	0.82076	-0.0636	10	0.87932	D	0	-29.5096	14.2929	0.66292	0.0:0.9277:0.0:0.0723	.	158;158;158;158	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	N	158;158;20;158;158	ENSP00000318868:K158N;ENSP00000345881:K158N;ENSP00000440089:K20N;ENSP00000318805:K158N	ENSP00000318868:K158N	K	-	3	2	SHMT1	18191580	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.873000	0.56093	1.352000	0.45808	0.462000	0.41574	AAG	SHMT1	-	pfscan_Josephin		0.512	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	C	NM_004169		18250855	-1	no_errors	ENST00000580002	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18250855	C	A	18250855	3	1	81	1	0	0	0	0	1	0	0	0	14315	912	32	3	1009	3	SHMT1	17	18250855	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		18250855	62944355	92	12519										
STAC2	342667	genome.wustl.edu	37	chr17	37371404	37371404	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggggactcagaggtgctgctGaaactggagcggttcatcag	16	8	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:37371404G>T	ENST00000333461.5	-	5	1035	c.666C>A	c.(664-666)ttC>ttA	p.F222L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	222					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AGGTGCTGCTGAAACTGGAGC	0.607																																																	0													118	111	114					17																	37371404		2203	4300	6503	SO:0001583	missense	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.666C>A	17.37:g.37371404G>T	ENSP00000327509:p.Phe222Leu		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.F222L	ENST00000333461.5	37	c.666	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	10.21	1.288553	0.23478	.	.	ENSG00000141750	ENST00000333461	T	0.79653	-1.29	4.94	4.94	0.65067	.	0.124327	0.53938	N	0.000042	T	0.71517	0.3349	L	0.43152	1.355	0.38981	D	0.958949	B	0.06786	0.001	B	0.04013	0.001	T	0.66889	-0.5809	10	0.23302	T	0.38	-2.3169	10.5854	0.45280	0.0909:0.0:0.9091:0.0	.	222	Q6ZMT1	STAC2_HUMAN	L	222	ENSP00000327509:F222L	ENSP00000327509:F222L	F	-	3	2	STAC2	34624930	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.362000	0.52314	2.279000	0.76181	0.511000	0.50034	TTC	STAC2	-	NULL		0.607	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	G	NM_198993		37371404	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37371404	G	T	37371404	3	4	81	1	0	0	0	0	1	0	0	0	15270	1281	45	3	597	3	STAC2	17	37371404	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	19120549	37371404	43823806	93	12520										
WIPF2	147179	genome.wustl.edu	37	chr17	38421118	38421118	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cctcctgctccacccccagtCaaaccacctccttcccctgt	3	23	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:38421118C>G	ENST00000323571.4	+	5	930	c.690C>G	c.(688-690)gtC>gtG	p.V230V	WIPF2_ENST00000585043.1_Silent_p.V230V|WIPF2_ENST00000583130.1_Silent_p.V230V|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	230					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CACCCCCAGTCAAACCACCTC	0.617										HNSCC(43;0.11)																																							0													151	134	140					17																	38421118		2203	4300	6503	SO:0001819	synonymous_variant	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.690C>G	17.37:g.38421118C>G			A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.V230	ENST00000323571.4	37	c.690	CCDS11364.1	17																																																																																			WIPF2	-	NULL		0.617	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2	C	NM_133264		38421118	1	no_errors	ENST00000323571	ensembl	human	known	70_37	silent	SNP	0.065	G	G	38421118	C	G	38421118	2	3	81	1	0	0	0	0	0	0	0	1	17399	813	29	1		1	WIPF2	17	38421118	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	1049714	38421118	42774092	94	12521										
KRT10	3858	genome.wustl.edu	37	chr17	38976838	38976838	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	atctccaggtcagccttggtCagggtcagctcatccagcac	10	14	5	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:38976838C>T	ENST00000269576.5	-	3	801	c.792G>A	c.(790-792)ctG>ctA	p.L264L	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	264	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CAGCCTTGGTCAGGGTCAGCT	0.517																																																	0													122	119	120					17																	38976838		2203	4300	6503	SO:0001819	synonymous_variant	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.792G>A	17.37:g.38976838C>T			Q14664|Q8N175	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L264	ENST00000269576.5	37	c.792	CCDS11377.1	17																																																																																			KRT10	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.517	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	C	NM_000421		38976838	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	silent	SNP	0.212	T	T	38976838	C	T	38976838	2	4	81	1	0	0	0	0	0	0	0	1	8468	813	29	1		1	KRT10	17	38976838	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	555720	38976838	42218372	95	12522										
KIF18B	146909	genome.wustl.edu	37	chr17	43006267	43006268	+	Frame_Shift_Ins	INS	-	-	T													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggcctctgccccaggctcaaINSttttttcctcttgcaccagc							TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:43006267_43006268insT	ENST00000593135.1	-	12	1739_1740	c.1642_1643insA	c.(1642-1644)attfs	p.I548fs	KIF18B_ENST00000590129.1_Frame_Shift_Ins_p.I569fs|KIF18B_ENST00000587309.1_Frame_Shift_Ins_p.I560fs|KIF18B_ENST00000438933.2_Frame_Shift_Ins_p.I560fs|KIF18B_ENST00000339151.4_Frame_Shift_Ins_p.I560fs	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	569					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCCAGGCTCAATTTTTTCCTCT	0.589																																																	0																																										SO:0001589	frameshift_variant	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1643dupA	17.37:g.43006273_43006273dupT	ENSP00000465992:p.Ile548fs		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I560fs	ENST00000593135.1	37	c.1679_1678	CCDS45709.2	17																																																																																			KIF18B	-	NULL		0.589	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	-	NM_001080443		43006268	-1	no_errors	ENST00000339151	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T	T	43006268	-	T	43006267	7	5	81	1	0	1	1	0	0	0	0	0	8301	101	4	0	907	0	KIF18B	17	43006267	Frame_Shift_Ins	INS	-	TCGA-EA-A43B-01A-81D-A243-09	4029429	43006267	38188943	96	12523										
TEX14	56155	genome.wustl.edu	37	chr17	56650643	56650643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctggttcataggagatactaGacaggtcttgaatatccgtc	10	8	2	3			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:56650643G>C	ENST00000240361.8	-	24	3633	c.3548C>G	c.(3547-3549)tCt>tGt	p.S1183C	TEX14_ENST00000389934.3_Missense_Mutation_p.S1177C|TEX14_ENST00000349033.5_Missense_Mutation_p.S1137C			Q8IWB6	TEX14_HUMAN	testis expressed 14	1183					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)			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)					GGAGATACTAGACAGGTCTTG	0.398																																																	0													230	224	226					17																	56650643		2203	4300	6503	SO:0001583	missense	56155			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.3548C>G	17.37:g.56650643G>C	ENSP00000240361:p.Ser1183Cys		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.S1183C	ENST00000240361.8	37	c.3548	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875957	0.72180	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.27402	1.67;1.67;1.67	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.45736	0.1357	L	0.36672	1.1	0.34703	D	0.726909	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.71184	0.938;0.969;0.972	T	0.56848	-0.7911	10	0.87932	D	0	-14.9578	15.2584	0.73603	0.0:0.0:1.0:0.0	.	1183;1137;1177	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	C	1183;1177;1137	ENSP00000240361:S1183C;ENSP00000374584:S1177C;ENSP00000268910:S1137C	ENSP00000240361:S1183C	S	-	2	0	TEX14	54005642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.535000	0.67173	2.673000	0.90976	0.555000	0.69702	TCT	TEX14	-	NULL		0.398	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	G			56650643	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56650643	G	C	56650643	3	2	81	1	0	0	0	0	1	0	0	0	15808	942	33	1	985	1	TEX14	17	56650643	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	13644376	56650643	24544567	97	12524										
SOCS3	9021	genome.wustl.edu	37	chr17	76354877	76354878	+	Frame_Shift_Ins	INS	-	-	C													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cgctctgcagagagaagctgINScccccctcacactggatgcg							TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:76354877_76354878insC	ENST00000330871.2	-	2	714_715	c.299_300insG	c.(298-300)ggcfs	p.G100fs	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	100	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GAGAGAAGCTGCCCCCCTCACA	0.649																																																	0																																										SO:0001589	frameshift_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.300dupG	17.37:g.76354883_76354883dupC	ENSP00000330341:p.Gly100fs		O14509	Frame_Shift_Ins	INS	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S101fs	ENST00000330871.2	37	c.300_299	CCDS11756.1	17																																																																																			SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.649	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	-			76354878	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	76354878	-	C	76354877	7	5	81	1	0	1	1	0	0	0	0	0	14945	1306	46	0	381	0	SOCS3	17	76354877	Frame_Shift_Ins	INS	-	TCGA-EA-A43B-01A-81D-A243-09	19704234	76354877	4840333	98	12525										
PTPRM	5797	genome.wustl.edu	37	chr18	8296421	8296421	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggctaagaaagatgagaacaGaatgaagaacagatacggga	13	4	0	7			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr18:8296421G>C	ENST00000332175.8	+	18	3808	c.2771G>C	c.(2770-2772)aGa>aCa	p.R924T	PTPRM_ENST00000400053.4_Missense_Mutation_p.R862T|PTPRM_ENST00000444013.1_Missense_Mutation_p.R711T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R938T|PTPRM_ENST00000580170.1_Missense_Mutation_p.R937T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	924	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATGAGAACAGAATGAAGAAC	0.418																																																	0													220	187	198					18																	8296421		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2771G>C	18.37:g.8296421G>C	ENSP00000331418:p.Arg924Thr		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R938T	ENST00000332175.8	37	c.2813	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.059461	0.93846	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	L	0.58669	1.825	0.80722	D	1	P;D;D	0.58620	0.901;0.983;0.983	P;D;D	0.75020	0.81;0.985;0.985	T	0.51028	-0.8757	10	0.62326	D	0.03	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	711;937;924	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	924;938;862;711	ENSP00000331418:R924T;ENSP00000382933:R938T;ENSP00000382927:R862T;ENSP00000387608:R711T	ENSP00000331418:R924T	R	+	2	0	PTPRM	8286421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	AGA	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8296421	1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8296421	G	C	8296421	3	2	81	1	0	0	0	0	1	0	0	0	12836	942	33	1	2888	1	PTPRM	18	8296421	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		8296421	69780827	99	12526										
MIB1	57534	genome.wustl.edu	37	chr18	19418375	19418375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	caagaccatggattgtggatGagaagaaagatgatggttat	13	3	0	5			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr18:19418375G>A	ENST00000261537.6	+	13	2143	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	627					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GATTGTGGATGAGAAGAAAGA	0.343																																																	0													115	108	110					18																	19418375		2203	4300	6503	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1879G>A	18.37:g.19418375G>A	ENSP00000261537:p.Glu627Lys		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.E627K	ENST00000261537.6	37	c.1879	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.261416	0.95368	.	.	ENSG00000101752	ENST00000261537	T	0.64991	-0.13	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	N	0.04335	-0.225	0.80722	D	1	P	0.44776	0.843	P	0.61722	0.893	T	0.54569	-0.8274	10	0.08837	T	0.75	-23.1684	19.9918	0.97368	0.0:0.0:1.0:0.0	.	627	Q86YT6	MIB1_HUMAN	K	627	ENSP00000261537:E627K	ENSP00000261537:E627K	E	+	1	0	MIB1	17672373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.728000	0.93425	0.585000	0.79938	GAG	MIB1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.343	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	G	NM_020774		19418375	1	no_errors	ENST00000261537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19418375	G	A	19418375	3	1	81	1	0	0	0	0	1	0	0	0	9589	1291	45	1	1929	1	MIB1	18	19418375	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	11121954	19418375	58658873	100	12527										
ATG4D	84971	genome.wustl.edu	37	chr19	10655726	10655726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tcctgggggctgcctgacctCggactgtggctgggggtgca	18	11	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:10655726C>T	ENST00000309469.4	+	3	586	c.413C>T	c.(412-414)tCg>tTg	p.S138L	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632																																																	0													95	102	99					19																	10655726		2203	4300	6503	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.413C>T	19.37:g.10655726C>T	ENSP00000311318:p.Ser138Leu		Q969K0	Missense_Mutation	SNP	pfam_Peptidase_C54	p.S138L	ENST00000309469.4	37	c.413	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242930	0.58995	.	.	ENSG00000130734	ENST00000309469	T	0.60424	0.19	4.84	4.84	0.62591	.	0.063063	0.64402	D	0.000010	T	0.66548	0.2800	M	0.87456	2.885	0.80722	D	1	B;B;B	0.30439	0.279;0.165;0.279	B;B;B	0.33196	0.159;0.024;0.103	T	0.72704	-0.4213	10	0.87932	D	0	-14.7744	16.6843	0.85301	0.0:1.0:0.0:0.0	.	75;161;138	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	L	138	ENSP00000311318:S138L	ENSP00000311318:S138L	S	+	2	0	ATG4D	10516726	1.000000	0.71417	0.965000	0.40720	0.070000	0.16714	7.364000	0.79526	2.221000	0.72209	0.643000	0.83706	TCG	ATG4D	-	pfam_Peptidase_C54		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4D	HGNC	protein_coding	OTTHUMT00000452022.1	C	NM_032885		10655726	1	no_errors	ENST00000309469	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10655726	C	T	10655726	3	4	81	1	0	0	0	0	1	0	0	0	1100	893	31	1	423	1	ATG4D	19	10655726	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		10655726	48473257	101	12528										
SYDE1	85360	genome.wustl.edu	37	chr19	15224540	15224540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gccggcgactggagcgtttgCgggcgggacttcctgccctg	17	13	0	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:15224540C>T	ENST00000342784.2	+	8	2005	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	SYDE1_ENST00000600440.1_Silent_p.C591C|SYDE1_ENST00000600252.1_Silent_p.C315C	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	658					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGAGCGTTTGCGGGCGGGACT	0.706																																																	0													51	61	58					19																	15224540		2203	4299	6502	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1974C>T	19.37:g.15224540C>T			Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.C658	ENST00000342784.2	37	c.1974	CCDS12324.1	19																																																																																			SYDE1	-	NULL		0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15224540	1	no_errors	ENST00000342784	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15224540	C	T	15224540	2	4	81	1	0	0	0	0	0	0	0	1	15465	776	27	2		2	SYDE1	19	15224540	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	4568814	15224540	43904443	102	12529										
ELL	8178	genome.wustl.edu	37	chr19	18572462	18572462	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctgcagtcgcagcagcagctCagccttgcggtagggccgta	14	13	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:18572462C>G	ENST00000262809.4	-	5	741	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	ELL_ENST00000596124.3_Missense_Mutation_p.E91Q	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	224					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGCAGCAGCTCAGCCTTGCGG	0.682			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													60	51	54					19																	18572462		2203	4300	6503	SO:0001583	missense	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.670G>C	19.37:g.18572462C>G	ENSP00000262809:p.Glu224Gln	726		Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.E224Q	ENST00000262809.4	37	c.670	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791828	0.70452	.	.	ENSG00000105656	ENST00000262809	T	0.67345	-0.26	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87896	0.2687	10	0.87932	D	0	-18.6962	16.0946	0.81112	0.0:1.0:0.0:0.0	.	168;224	Q59HG4;P55199	.;ELL_HUMAN	Q	224	ENSP00000262809:E224Q	ENSP00000262809:E224Q	E	-	1	0	ELL	18433462	1.000000	0.71417	0.932000	0.37286	0.155000	0.21991	7.370000	0.79589	2.272000	0.75746	0.555000	0.69702	GAG	ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.682	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18572462	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18572462	C	G	18572462	3	3	81	1	0	0	0	0	1	0	0	0	5074	835	29	1	1227	1	ELL	19	18572462	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	3347922	18572462	40556521	103	12530										
NCAN	1463	genome.wustl.edu	37	chr19	19337411	19337411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tggagcccaccctggaggagGaagaggtggtcacccctgac	15	12	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:19337411G>A	ENST00000252575.6	+	7	1288	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	397					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCTGGAGGAGGAAGAGGTGGT	0.577																																																	0													46	46	46					19																	19337411		2202	4300	6502	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1189G>A	19.37:g.19337411G>A	ENSP00000252575:p.Glu397Lys		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E397K	ENST00000252575.6	37	c.1189	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399290	0.25291	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.84589	-1.87	5.42	1.98	0.26296	.	0.626334	0.13248	N	0.402285	T	0.68072	0.2961	N	0.14661	0.345	0.09310	N	0.999999	B	0.20052	0.041	B	0.21917	0.037	T	0.51244	-0.8730	10	0.06625	T	0.88	-11.5139	7.5287	0.27671	0.0898:0.3186:0.5916:0.0	.	397	O14594	NCAN_HUMAN	K	411;397	ENSP00000252575:E397K	ENSP00000252575:E397K	E	+	1	0	NCAN	19198411	0.007000	0.16637	0.002000	0.10522	0.030000	0.12068	0.600000	0.24104	0.228000	0.21019	0.555000	0.69702	GAA	NCAN	-	NULL		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19337411	1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.030	A	A	19337411	G	A	19337411	3	1	81	1	0	0	0	0	1	0	0	0	10228	1175	41	1	1211	1	NCAN	19	19337411	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	764949	19337411	39791572	104	12531										
LTBP4	8425	genome.wustl.edu	37	chr19	41120238	41120238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cagacgtggacgaatgtcgcGagcgaggcccagccctgtgc	15	13	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:41120238G>C	ENST00000308370.7	+	22	2899	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	LTBP4_ENST00000396819.3_Missense_Mutation_p.E900Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.E930Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.E65Q|LTBP4_ENST00000545697.1_Missense_Mutation_p.E420Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	967	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E967Q(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAATGTCGCGAGCGAGGCCC	0.652																																																	1	Substitution - Missense(1)	lung(1)											37	41	40					19																	41120238		1985	4159	6144	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2899G>C	19.37:g.41120238G>C	ENSP00000311905:p.Glu967Gln		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E967Q	ENST00000308370.7	37	c.2899		19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080015	0.76528	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	4.42	4.42	0.53409	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.40385	N	0.001101	D	0.90827	0.7119	N	0.12887	0.27	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.998;0.999;0.999	P;D;D;D;D	0.91635	0.87;0.998;0.998;0.999;0.999	D	0.88356	0.2984	10	0.16896	T	0.51	.	15.924	0.79597	0.0:0.0:1.0:0.0	.	65;187;900;967;930	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	Q	930;420;967;900;65	ENSP00000204005:E930Q;ENSP00000441054:E420Q;ENSP00000311905:E967Q;ENSP00000380031:E900Q;ENSP00000243562:E65Q	ENSP00000204005:E930Q	E	+	1	0	LTBP4	45812078	0.997000	0.39634	0.986000	0.45419	0.970000	0.65996	4.524000	0.60552	2.280000	0.76307	0.455000	0.32223	GAG	LTBP4	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.652	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41120238	1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	0.443	C	C	41120238	G	C	41120238	3	2	81	1	0	0	0	0	1	0	0	0	9099	1059	37	1	3278	1	LTBP4	19	41120238	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	21782827	41120238	18008745	105	12532										
HIF3A	64344	genome.wustl.edu	37	chr19	46815449	46815449	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tggctggctatagtcccgatGacctgatcggctgttccgcc	12	13	0	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:46815449G>C	ENST00000377670.4	+	7	833	c.802G>C	c.(802-804)Gac>Cac	p.D268H	HIF3A_ENST00000339613.2_Missense_Mutation_p.D212H|HIF3A_ENST00000472815.1_Missense_Mutation_p.D199H|HIF3A_ENST00000244303.6_Missense_Mutation_p.D199H|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.D217H|HIF3A_ENST00000600383.1_Missense_Mutation_p.D199H|HIF3A_ENST00000300862.3_Missense_Mutation_p.D266H	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	268	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TAGTCCCGATGACCTGATCGG	0.597																																																	0													155	141	145					19																	46815449		2203	4300	6503	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.802G>C	19.37:g.46815449G>C	ENSP00000366898:p.Asp268His		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.D268H	ENST00000377670.4	37	c.802	CCDS12681.2	19	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.0|24.0|24.0	4.482035|4.482035|4.482035	0.84747|0.84747|0.84747	.|.|.	.|.|.	ENSG00000124440|ENSG00000124440|ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000457771|ENST00000472815	T;T;T;T;T|.|.	0.22945|.|.	1.93;1.93;1.93;1.93;1.93|.|.	4.3|4.3|4.3	4.3|4.3|4.3	0.51218|0.51218|0.51218	PAS fold-3 (1);PAS (3);|.|.	0.000000|.|.	0.42294|.|.	D|.|.	0.000734|.|.	T|T|.	0.78799|0.78799|.	0.4340|0.4340|.	M|M|M	0.86502|0.86502|0.86502	2.82|2.82|2.82	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D;D;D|.|.	0.91635|.|.	0.982;0.988;0.999;0.988;0.997;0.999;0.993;0.993|.|.	T|T|.	0.82086|0.82086|.	-0.0631|-0.0631|.	10|6|.	0.87932|0.56958|.	D|D|.	0|0.05|.	.|.|.	14.6642|14.6642|14.6642	0.68896|0.68896|0.68896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	217;199;266;217;212;268;268;268|.|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6|.|.	.;.;.;.;.;HIF3A_HUMAN;.;.|.|.	H|I|S	268;268;268;176;268;199;212;212;266;217|198|240	ENSP00000366898:D268H;ENSP00000244303:D199H;ENSP00000341877:D212H;ENSP00000300862:D266H;ENSP00000407771:D217H|.|.	ENSP00000244302:D268H|ENSP00000408008:M198I|.	D|M|X	+|+|+	1|3|2	0|0|2	HIF3A|HIF3A|HIF3A	51507289|51507289|51507289	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.956000|0.956000|0.956000	0.61745|0.61745|0.61745	6.797000|6.797000|6.797000	0.75150|0.75150|0.75150	2.390000|2.390000|2.390000	0.81377|0.81377|0.81377	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|ATG|TGA	HIF3A	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.597	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	G			46815449	1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46815449	G	C	46815449	3	2	81	1	0	0	0	0	1	0	0	0	7125	1290	45	1	852	1	HIF3A	19	46815449	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	5695211	46815449	12313534	106	12533										
EHD2	30846	genome.wustl.edu	37	chr19	48229265	48229265	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cagcagctgatgcgcgtctaCggcgcgctcatgtgggcgct	15	13	2	1	rs576144192		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:48229265C>A	ENST00000263277.3	+	4	950	c.699C>A	c.(697-699)taC>taA	p.Y233*	EHD2_ENST00000538399.1_Nonsense_Mutation_p.Y97*|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	233	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGCGCGTCTACGGCGCGCTCA	0.672																																																	0													37	30	32					19																	48229265		2203	4300	6503	SO:0001587	stop_gained	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.699C>A	19.37:g.48229265C>A	ENSP00000263277:p.Tyr233*		B2RDH9|B4DNU6|Q96CB6	Nonsense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.Y233*	ENST00000263277.3	37	c.699	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.346329	0.95807	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	.	.	.	3.66	-1.85	0.07784	.	0.151768	0.45361	D	0.000374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7645	8.0388	0.30508	0.0:0.5013:0.0:0.4987	.	.	.	.	X	233;233;223;97	.	ENSP00000263277:Y233X	Y	+	3	2	EHD2	52921077	0.807000	0.29009	0.991000	0.47740	0.993000	0.82548	0.011000	0.13264	-0.456000	0.07043	0.456000	0.33151	TAC	EHD2	-	NULL		0.672	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	C			48229265	1	no_errors	ENST00000263277	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	48229265	C	A	48229265	4	1	81	1	0	0	0	0	0	1	0	0	4988	547	19	2	709	2	EHD2	19	48229265	Nonsense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	1413816	48229265	10899718	107	12534										
TPRX1	284355	genome.wustl.edu	37	chr19	48305209	48305209	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aggggtaggagcagctctgtGaagtgagggaataactgggt	18	4	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:48305209G>A	ENST00000322175.3	-	2	1214	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	TPRX1_ENST00000535759.1_Silent_p.F450F|TPRX1_ENST00000543508.1_Silent_p.F343F	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	353						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCAGCTCTGTGAAGTGAGGGA	0.572																																					Esophageal Squamous(123;175 2281 3051 32395)												0													99	101	100					19																	48305209		2203	4300	6503	SO:0001819	synonymous_variant	284355				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1059C>T	19.37:g.48305209G>A			A5D8Y3|B2RPL5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.F450	ENST00000322175.3	37	c.1350	CCDS33066.1	19																																																																																			TPRX1	-	NULL		0.572	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	HGNC	protein_coding	OTTHUMT00000409868.1	G	NM_198479		48305209	-1	no_errors	ENST00000535759	ensembl	human	known	70_37	silent	SNP	0.002	A	A	48305209	G	A	48305209	2	1	81	1	0	0	0	0	0	0	0	1	16453	1281	45	1		1	TPRX1	19	48305209	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	75944	48305209	10823774	108	12535										
TRPM4	54795	genome.wustl.edu	37	chr19	49713652	49713652	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cagccgtcctccccggccctCgagcatttccgtaagaacag	9	17	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:49713652C>T	ENST00000252826.5	+	21	3444	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	TRPM4_ENST00000355712.5_Silent_p.L752L|TRPM4_ENST00000427978.2_Silent_p.L961L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1106	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCCGGCCCTCGAGCATTTCC	0.622																																																	0													19	23	22					19																	49713652		2200	4293	6493	SO:0001819	synonymous_variant	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3318C>T	19.37:g.49713652C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.L1106	ENST00000252826.5	37	c.3318	CCDS33073.1	19																																																																																			TRPM4	-	NULL		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49713652	1	no_errors	ENST00000252826	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49713652	C	T	49713652	2	4	81	1	0	0	0	0	0	0	0	1	16619	871	31	1		1	TRPM4	19	49713652	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	1408443	49713652	9415331	109	12536										
ZNF534	147658	genome.wustl.edu	37	chr19	52941496	52941496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tcacaccttgcacaacatcaGaaaattcatactggacagaa	5	11	3	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:52941496G>C	ENST00000332323.6	+	4	883	c.822G>C	c.(820-822)caG>caC	p.Q274H	ZNF534_ENST00000433050.1_Missense_Mutation_p.Q261H|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAACATCAGAAAATTCATA	0.383																																																	0													53	48	50					19																	52941496		1568	3582	5150	SO:0001583	missense	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.822G>C	19.37:g.52941496G>C	ENSP00000327538:p.Gln274His		Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q274H	ENST00000332323.6	37	c.822	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	6.382	0.438523	0.12104	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.01034	5.42;5.42	1.98	0.8	0.18672	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	L	0.60845	1.875	0.45791	D	0.998673	D;B	0.56521	0.976;0.0	P;B	0.51229	0.663;0.001	T	0.62426	-0.6857	9	0.54805	T	0.06	.	8.9485	0.35773	0.0:0.2327:0.7673:0.0	.	261;274	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	274;261;273	ENSP00000327538:Q274H;ENSP00000391358:Q261H	ENSP00000327538:Q274H	Q	+	3	2	ZNF534	57633308	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.024000	0.13555	0.121000	0.18284	0.585000	0.79938	CAG	ZNF534	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	G	NM_182512		52941496	1	no_errors	ENST00000332323	ensembl	human	known	70_37	missense	SNP	0.413	C	C	52941496	G	C	52941496	3	2	81	1	0	0	0	0	1	0	0	0	18003	933	33	1	836	1	ZNF534	19	52941496	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	3227844	52941496	6187487	110	12537										
BRSK1	84446	genome.wustl.edu	37	chr19	55815948	55815948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttttccttttcaccggagccGggggctggagatgaggctcg	15	10	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:55815948G>A	ENST00000309383.1	+	14	1654	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	BRSK1_ENST00000590333.1_Silent_p.P475P|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.P154P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	459					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CACCGGAGCCGGGGGCTGGAG	0.662																																																	0													6	7	7					19																	55815948		2120	4198	6318	SO:0001819	synonymous_variant	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1377G>A	19.37:g.55815948G>A			F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P475	ENST00000309383.1	37	c.1425	CCDS12921.1	19																																																																																			BRSK1	-	NULL		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	HGNC	protein_coding	OTTHUMT00000452787.1	G	NM_032430		55815948	1	no_errors	ENST00000590333	ensembl	human	known	70_37	silent	SNP	0.025	A	A	55815948	G	A	55815948	2	1	81	1	0	0	0	0	0	0	0	1	1526	1103	39	2		2	BRSK1	19	55815948	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	2874452	55815948	3313035	111	12538										
ZNF134	7693	genome.wustl.edu	37	chr19	58132365	58132365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gccttataagtgcagtgattGtgggaaagtcttcagacaca	11	7	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:58132365G>T	ENST00000396161.5	+	3	1188	c.878G>T	c.(877-879)tGt>tTt	p.C293F		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCAGTGATTGTGGGAAAGTC	0.398																																																	0													107	110	109					19																	58132365		2200	4299	6499	SO:0001583	missense	7693			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.878G>T	19.37:g.58132365G>T	ENSP00000379464:p.Cys293Phe		Q9Y4B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C293F	ENST00000396161.5	37	c.878	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680254	0.68042	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	D	0.85861	-2.04	4.45	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94341	0.8181	H	0.97732	4.065	0.41191	D	0.986302	D	0.89917	1.0	D	0.69654	0.965	D	0.95409	0.8496	9	0.87932	D	0	.	12.0686	0.53603	0.0884:0.0:0.9116:0.0	.	293	P52741	ZN134_HUMAN	F	360;213;293	ENSP00000379464:C293F	ENSP00000379464:C293F	C	+	2	0	ZNF134	62824177	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	6.992000	0.76238	1.186000	0.42985	0.561000	0.74099	TGT	ZNF134	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	HGNC	protein_coding	OTTHUMT00000466808.1	G	NM_003435		58132365	1	no_errors	ENST00000396161	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58132365	G	T	58132365	3	4	81	1	0	0	0	0	1	0	0	0	17754	1377	48	4	884	4	ZNF134	19	58132365	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	2316417	58132365	996618	112	12539										
TGM2	7052	genome.wustl.edu	37	chr20	36789841	36789841	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ccggtcacgacactgaaggtGagactgtctacactggcctc	11	13	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:36789841G>T	ENST00000361475.2	-	2	344	c.171C>A	c.(169-171)ctC>ctA	p.L57L	TGM2_ENST00000536701.1_Silent_p.L57L|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	57					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGAAGGTGAGACTGTCTA	0.637																																																	0													74	55	61					20																	36789841		2203	4300	6503	SO:0001819	synonymous_variant	7052			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.171C>A	20.37:g.36789841G>T			E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L57	ENST00000361475.2	37	c.171	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.637	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	G	NM_198951		36789841	-1	no_errors	ENST00000361475	ensembl	human	known	70_37	silent	SNP	0.906	T	T	36789841	G	T	36789841	2	4	81	1	0	0	0	0	0	0	0	1	15860	1277	45	3		3	TGM2	20	36789841	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		36789841	26235679	113	12540										
SALL4	57167	genome.wustl.edu	37	chr20	50406888	50406888	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tgccgagtggatgctgggaaGaggcgtggggaccttggagg	21	6	0	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:50406888G>A	ENST00000217086.4	-	2	2245	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	712					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L712F(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGCTGGGAAGAGGCGTGGGG	0.587																																																	1	Substitution - Missense(1)	ovary(1)											40	38	39					20																	50406888		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2134C>T	20.37:g.50406888G>A	ENSP00000217086:p.Leu712Phe		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L712F	ENST00000217086.4	37	c.2134	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204892	0.01568	.	.	ENSG00000101115	ENST00000217086	T	0.09350	2.99	5.47	1.95	0.26073	.	0.382752	0.19354	N	0.116306	T	0.07143	0.0181	L	0.41415	1.275	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41088	-0.9528	10	0.11485	T	0.65	-10.0869	5.4989	0.16817	0.147:0.3991:0.4538:0.0	.	712	Q9UJQ4	SALL4_HUMAN	F	712	ENSP00000217086:L712F	ENSP00000217086:L712F	L	-	1	0	SALL4	49840295	0.005000	0.15991	0.014000	0.15608	0.002000	0.02628	1.647000	0.37260	0.621000	0.30232	-0.304000	0.09214	CTT	SALL4	-	NULL		0.587	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50406888	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50406888	G	A	50406888	3	1	81	1	0	0	0	0	1	0	0	0	13843	942	33	1	1039	1	SALL4	20	50406888	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	13617047	50406888	12618632	114	12541										
CDH4	1002	genome.wustl.edu	37	chr20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	agggcgtgccccccggcaccGtgctgaccacgttttcagct	12	16	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632																																																	0													63	54	57					20																	60498707		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1573G>A	20.37:g.60498707G>A	ENSP00000353656:p.Val525Met		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.V525M	ENST00000360469.5	37	c.1573	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	CDH4	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	G	NM_001794		60498707	1	no_errors	ENST00000360469	ensembl	human	known	70_37	missense	SNP	0.149	A	A	60498707	G	A	60498707	3	1	81	1	0	0	0	0	1	0	0	0	3117	1145	40	2	1611	2	CDH4	20	60498707	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	10091819	60498707	2526813	115	12542										
KCNQ2	3785	genome.wustl.edu	37	chr20	62045509	62045509	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acaaactcgcaggggcagctCttgtcatccacaatgtcctc	8	14	2	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:62045509C>G	ENST00000359125.2	-	14	1737	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	KCNQ2_ENST00000357249.2_Missense_Mutation_p.K503N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K521N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K493N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K490N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K493N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K493N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	521					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGGGGCAGCTCTTGTCATCCA	0.677																																																	0													54	59	57					20																	62045509		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1563G>C	20.37:g.62045509C>G	ENSP00000352035:p.Lys521Asn		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K493N	ENST00000359125.2	37	c.1479	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278619	0.59758	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99685	-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4	5.37	3.08	0.35506	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.170042	0.50627	N	0.000119	D	0.99456	0.9807	M	0.71206	2.165	0.46149	D	0.99889	D;D;P;D	0.60575	0.985;0.973;0.953;0.988	P;P;P;P	0.62491	0.798;0.798;0.725;0.903	D	0.98358	1.0547	10	0.87932	D	0	-24.1706	11.3933	0.49827	0.0:0.7744:0.0:0.2256	.	493;503;490;521	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	N	503;521;491;493;521;490;493;481;493;493	ENSP00000349789:K503N;ENSP00000352035:K521N;ENSP00000359246:K491N;ENSP00000346601:K493N;ENSP00000352718:K521N;ENSP00000399612:K490N;ENSP00000353668:K493N;ENSP00000339611:K481N;ENSP00000359244:K493N;ENSP00000359242:K493N	ENSP00000339611:K481N	K	-	3	2	KCNQ2	61515953	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	2.816000	0.48026	1.267000	0.44247	0.563000	0.77884	AAG	KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C		0.677	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	C	NM_172109		62045509	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62045509	C	G	62045509	3	3	81	1	0	0	0	0	1	0	0	0	8103	912	32	1	1071	1	KCNQ2	20	62045509	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	1546802	62045509	980011	116	12543			1	51		2	2	21	C		8.398473e-05
KCNQ2	3785	genome.wustl.edu	37	chr20	62045529	62045529	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cttgtcatccacaatgtcctCtccggggaggcttgcttctg	10	13	3	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:62045529C>G	ENST00000359125.2	-	14	1717	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	KCNQ2_ENST00000357249.2_Missense_Mutation_p.E497Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.E515Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.E487Q|KCNQ2_ENST00000344462.4_Missense_Mutation_p.E484Q|KCNQ2_ENST00000354587.3_Missense_Mutation_p.E487Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E487Q	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	515					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACAATGTCCTCTCCGGGGAGG	0.662																																																	0													44	49	47					20																	62045529		2202	4299	6501	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1543G>C	20.37:g.62045529C>G	ENSP00000352035:p.Glu515Gln		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E487Q	ENST00000359125.2	37	c.1459	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765498	0.69878	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	5.37	5.37	0.77165	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.245869	0.38837	N	0.001550	D	0.99648	0.9870	M	0.73962	2.25	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.98218	1.0476	10	0.52906	T	0.07	-1.463	19.1082	0.93305	0.0:1.0:0.0:0.0	.	487;497;484;515	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	Q	497;515;485;487;515;484;487;475;487;487	ENSP00000349789:E497Q;ENSP00000352035:E515Q;ENSP00000359246:E485Q;ENSP00000346601:E487Q;ENSP00000352718:E515Q;ENSP00000399612:E484Q;ENSP00000353668:E487Q;ENSP00000339611:E475Q;ENSP00000359244:E487Q;ENSP00000359242:E487Q	ENSP00000339611:E475Q	E	-	1	0	KCNQ2	61515973	1.000000	0.71417	0.991000	0.47740	0.122000	0.20287	7.063000	0.76714	2.519000	0.84933	0.563000	0.77884	GAG	KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C		0.662	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	C	NM_172109		62045529	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62045529	C	G	62045529	3	3	81	1	0	0	0	0	1	0	0	0	8103	922	32	1	1091	1	KCNQ2	20	62045529	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	20	62045529	979991	117	12544			1	51		2	2	21	C		8.398473e-05
PSMG1	8624	genome.wustl.edu	37	chr21	40550497	40550497	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gaaggctgccggtggattctGaggttttataatcggtaaca	13	6	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:40550497G>C	ENST00000331573.3	-	5	998	c.533C>G	c.(532-534)tCa>tGa	p.S178*	PSMG1_ENST00000380900.2_Nonsense_Mutation_p.S157*	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	178					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				GGTGGATTCTGAGGTTTTATA	0.393																																																	0													110	112	111					21																	40550497		2203	4300	6503	SO:0001587	stop_gained	8624			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.533C>G	21.37:g.40550497G>C	ENSP00000329915:p.Ser178*		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Nonsense_Mutation	SNP	pirsf_Proteasome_assmbl_chp_1	p.S178*	ENST00000331573.3	37	c.533	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772327	0.90108	.	.	ENSG00000183527	ENST00000331573;ENST00000380900	.	.	.	5.5	3.66	0.41972	.	0.857206	0.10579	N	0.658107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.4864	8.5988	0.33732	0.0691:0.1073:0.7022:0.1214	.	.	.	.	X	178;157	.	ENSP00000329915:S178X	S	-	2	0	PSMG1	39472367	1.000000	0.71417	0.240000	0.24138	0.724000	0.41520	3.282000	0.51693	0.283000	0.22279	-1.119000	0.02030	TCA	PSMG1	-	pirsf_Proteasome_assmbl_chp_1		0.393	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2	G	NM_003720		40550497	-1	no_errors	ENST00000331573	ensembl	human	known	70_37	nonsense	SNP	0.945	C	C	40550497	G	C	40550497	4	2	81	1	0	0	0	0	0	1	0	0	12738	1294	45	1	345	1	PSMG1	21	40550497	Nonsense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09		40550497	7579398	118	12545										
PRDM15	63977	genome.wustl.edu	37	chr21	43231133	43231133	+	Missense_Mutation	SNP	C	C	G													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gtggatgagcttgtgggtctCcatggtgttcctctcgctga							TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:43231133C>G	ENST00000269844.3	-	27	3660	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	PRDM15_ENST00000538201.1_Missense_Mutation_p.E838Q|PRDM15_ENST00000470586.1_5'Flank|PRDM15_ENST00000422911.1_Missense_Mutation_p.E875Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.E855Q|PRDM15_ENST00000447207.2_Missense_Mutation_p.E818Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTGTGGGTCTCCATGGTGTTC	0.562																																																	0													114	95	102					21																	43231133		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3550G>C	21.37:g.43231133C>G	ENSP00000269844:p.Glu1184Gln		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1184Q	ENST00000269844.3	37	c.3550	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	21.6	4.180238	0.78677	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58293	0.2112	N	0.12569	0.235	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.81914	0.994;0.986;0.995	T	0.57171	-0.7857	9	0.19590	T	0.45	-39.7501	16.725	0.85419	0.0:1.0:0.0:0.0	.	1184;875;855	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	875;855;838;818;1184	ENSP00000408592:E875Q;ENSP00000381556:E855Q;ENSP00000444044:E838Q;ENSP00000390245:E818Q;ENSP00000269844:E1184Q	ENSP00000269844:E1184Q	E	-	1	0	PRDM15	42104202	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.540000	0.82074	2.162000	0.67917	0.651000	0.88453	GAG	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		C	NM_022115		43231133	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43231133	C	G	43231133	3	3	81	1	0	0	0	0	1	0	0	0	12483	864	30	1	993	1	PRDM15	21	43231133	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	2680636	43231133	4898762	119	12546	67	2								
PRDM15	63977	genome.wustl.edu	37	chr21	43231143	43231143	+	Missense_Mutation	SNP	C	C	A													0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ttgtgggtctccatggtgttCctctcgctgaatgtcttccc							TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:43231143C>A	ENST00000269844.3	-	27	3650	c.3540G>T	c.(3538-3540)agG>agT	p.R1180S	PRDM15_ENST00000538201.1_Missense_Mutation_p.R834S|PRDM15_ENST00000470586.1_5'Flank|PRDM15_ENST00000422911.1_Missense_Mutation_p.R871S|PRDM15_ENST00000398548.1_Missense_Mutation_p.R851S|PRDM15_ENST00000447207.2_Missense_Mutation_p.R814S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATGGTGTTCCTCTCGCTGA	0.547																																																	0													124	102	109					21																	43231143		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3540G>T	21.37:g.43231143C>A	ENSP00000269844:p.Arg1180Ser		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R1180S	ENST00000269844.3	37	c.3540	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	15.01	2.706875	0.48412	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.89	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46190	0.1380	N	0.24115	0.695	0.37616	D	0.921135	D;P;P	0.56521	0.976;0.799;0.9	P;B;P	0.54815	0.761;0.214;0.498	T	0.50676	-0.8800	9	0.06891	T	0.86	-25.5339	10.0295	0.42092	0.0:0.3986:0.0:0.6014	.	1180;871;851	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	871;851;834;814;1180	ENSP00000408592:R871S;ENSP00000381556:R851S;ENSP00000444044:R834S;ENSP00000390245:R814S;ENSP00000269844:R1180S	ENSP00000269844:R1180S	R	-	3	2	PRDM15	42104212	0.992000	0.36948	0.966000	0.40874	0.654000	0.38779	0.287000	0.18920	-0.528000	0.06366	-0.141000	0.14075	AGG	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		C	NM_022115		43231143	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	0.997	A	A	43231143	C	A	43231143	3	1	81	1	0	0	0	0	1	0	0	0	12483	854	30	3	1003	3	PRDM15	21	43231143	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	10	43231143	4898752	120	12547	67	2								
UMODL1	89766	genome.wustl.edu	37	chr21	43531075	43531075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ggcacgggaacagcagccctCggcctagagaacttcacctt	11	14	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:43531075C>T	ENST00000408910.2	+	11	1743	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Silent_p.L509L|UMODL1_ENST00000400424.2_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	581					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													30	38	35					21																	43531075		2042	4186	6228	SO:0001819	synonymous_variant	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1743C>T	21.37:g.43531075C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.L581	ENST00000408910.2	37	c.1743	CCDS42936.1	21																																																																																			UMODL1	-	NULL		0.657	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	C			43531075	1	no_errors	ENST00000408989	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43531075	C	T	43531075	2	4	81	1	0	0	0	0	0	0	0	1	17011	871	31	1		1	UMODL1	21	43531075	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	299932	43531075	4598820	121	12548										
XKR3	150165	genome.wustl.edu	37	chr22	17265193	17265193	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acgacacagaagaattctatCggcggtagcttaatggtagt	11	7	1	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr22:17265193C>G	ENST00000331428.5	-	4	798	c.696G>C	c.(694-696)ccG>ccC	p.P232P		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	232			P -> L (in dbSNP:rs9605146). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGAATTCTATCGGCGGTAGCT	0.433																																																	0													35	34	34					22																	17265193		1517	3540	5057	SO:0001819	synonymous_variant	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.696G>C	22.37:g.17265193C>G			B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	pfam_Transport_prot_XK	p.P232	ENST00000331428.5	37	c.696	CCDS42975.1	22																																																																																			XKR3	-	pfam_Transport_prot_XK		0.433	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR3	HGNC	protein_coding	OTTHUMT00000289789.1	C	NM_175878		17265193	-1	no_errors	ENST00000331428	ensembl	human	known	70_37	silent	SNP	0.006	G	G	17265193	C	G	17265193	2	3	81	1	0	0	0	0	0	0	0	1	17463	871	31	1		1	XKR3	22	17265193	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		17265193	34039373	122	12549										
CCDC117	150275	genome.wustl.edu	37	chr22	29177021	29177021	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tttgtgcacatcaggatgtaGaggggcatggagtaaatccc	13	7	1	1			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr22:29177021G>C	ENST00000249064.4	+	3	501	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	CCDC117_ENST00000421503.2_Intron|CCDC117_ENST00000448492.2_Missense_Mutation_p.E91Q|CCDC117_ENST00000443309.2_5'UTR	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	109										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCAGGATGTAGAGGGGCATGG	0.418																																																	0													122	105	111					22																	29177021		2203	4300	6503	SO:0001583	missense	150275			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.325G>C	22.37:g.29177021G>C	ENSP00000249064:p.Glu109Gln		A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	NULL	p.E109Q	ENST00000249064.4	37	c.325	CCDS13846.1	22	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392957	0.62066	.	.	ENSG00000159873	ENST00000249064;ENST00000444523;ENST00000448492	T;T;T	0.15603	2.41;2.41;2.41	5.49	3.34	0.38264	.	0.475050	0.20120	N	0.098821	T	0.11922	0.0290	L	0.27053	0.805	0.20638	N	0.999879	B;B	0.20261	0.043;0.043	B;B	0.17098	0.017;0.017	T	0.22382	-1.0218	10	0.33940	T	0.23	.	10.2523	0.43377	0.0:0.1472:0.6996:0.1532	.	91;109	B7Z860;Q8IWD4	.;CC117_HUMAN	Q	109;91;91	ENSP00000249064:E109Q;ENSP00000399536:E91Q;ENSP00000389478:E91Q	ENSP00000249064:E109Q	E	+	1	0	CCDC117	27507021	1.000000	0.71417	0.592000	0.28758	0.952000	0.60782	4.282000	0.58971	0.639000	0.30564	0.561000	0.74099	GAG	CCDC117	-	NULL		0.418	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC117	HGNC	protein_coding	OTTHUMT00000321258.1	G	NM_173510		29177021	1	no_errors	ENST00000249064	ensembl	human	known	70_37	missense	SNP	0.514	C	C	29177021	G	C	29177021	3	2	81	1	0	0	0	0	1	0	0	0	2759	943	33	1	335	1	CCDC117	22	29177021	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	11911828	29177021	22127545	123	12550										
NCAPH2	29781	genome.wustl.edu	37	chr22	50956041	50956041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	ctcttcggtgcaggaggacaGggccaatggggttgccagct	16	10	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr22:50956041G>A	ENST00000420993.2	+	4	424	c.302G>A	c.(301-303)aGg>aAg	p.R101K	NCAPH2_ENST00000395701.3_Missense_Mutation_p.R101K|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R101K|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R101K	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	101					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGGAGGACAGGGCCAATGGG	0.647																																																	0													62	72	69					22																	50956041		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.302G>A	22.37:g.50956041G>A	ENSP00000410088:p.Arg101Lys		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.R101K	ENST00000420993.2	37	c.302	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175357	0.38413	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	4.64	0.0504	0.14293	.	0.675264	0.14903	N	0.291700	T	0.19927	0.0479	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27625	0.152;0.152;0.183;0.131	B;B;B;B	0.36959	0.153;0.153;0.237;0.062	T	0.34254	-0.9836	9	0.17832	T	0.49	-23.5301	4.5914	0.12307	0.2755:0.1615:0.563:0.0	.	101;101;101;101	Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	K	101;101;101;67;101	.	ENSP00000299821:R101K	R	+	2	0	NCAPH2	49302907	0.006000	0.16342	0.000000	0.03702	0.575000	0.36095	0.489000	0.22387	-0.054000	0.13266	0.561000	0.74099	AGG	NCAPH2	-	pfam_Condensin_II_H2-like		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50956041	1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50956041	G	A	50956041	3	1	81	1	0	0	0	0	1	0	0	0	10234	1000	35	4	316	4	NCAPH2	22	50956041	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	21779020	50956041	348525	124	12551										
NHS	4810	genome.wustl.edu	37	chrX	17744187	17744187	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	aaccatccctcctgcagcttCtcctccactcactggctctt	4	19	3	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:17744187C>T	ENST00000380060.3	+	6	2236	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	NHS_ENST00000398097.3_Missense_Mutation_p.S477F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	654					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCTGCAGCTTCTCCTCCACTC	0.547																																																	0													123	107	112					X																	17744187		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1898C>T	X.37:g.17744187C>T	ENSP00000369400:p.Ser633Phe		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.S633F	ENST00000380060.3	37	c.1898	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501551	0.64298	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.55930	0.49;0.52	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.76683	-0.2869	10	0.87932	D	0	-14.0116	19.2516	0.93926	0.0:1.0:0.0:0.0	.	654;475;477;633	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	633;477;475	ENSP00000369400:S633F;ENSP00000381170:S477F	ENSP00000369397:S475F	S	+	2	0	NHS	17654108	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	7.487000	0.81328	2.498000	0.84270	0.600000	0.82982	TCT	NHS	-	NULL		0.547	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744187	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17744187	C	T	17744187	3	4	81	1	0	0	0	0	1	0	0	0	10435	913	32	1	2025	1	NHS	23	17744187	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09		17744187	137526373	125	12552										
CACNA1F	778	genome.wustl.edu	37	chrX	49087754	49087754	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gcaaagatggtcagcaggatGaggatgtcgaagggcctcag	16	7	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:49087754G>C	ENST00000376265.2	-	3	352	c.291C>G	c.(289-291)ctC>ctG	p.L97L	CACNA1F_ENST00000323022.5_Silent_p.L97L|CACNA1F_ENST00000376251.1_Silent_p.L32L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	97					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCAGGATGAGGATGTCGA	0.602																																																	0													80	53	62					X																	49087754		2150	4190	6340	SO:0001819	synonymous_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.291C>G	X.37:g.49087754G>C			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L97	ENST00000376265.2	37	c.291	CCDS35253.1	X																																																																																			CACNA1F	-	NULL		0.602	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49087754	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	silent	SNP	1.000	C	C	49087754	G	C	49087754	2	2	81	1	0	0	0	0	0	0	0	1	2548	1277	45	1		1	CACNA1F	23	49087754	Silent	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	31343567	49087754	106182806	126	12553										
LAS1L	81887	genome.wustl.edu	37	chrX	64738311	64738311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	cagcagcttctcctgctcctCgtctggcaggccctgcccca	9	19	2	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:64738311C>T	ENST00000374811.3	-	12	1523	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E478K|LAS1L_ENST00000374804.5_Missense_Mutation_p.E436K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	495					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCCTGCTCCTCGTCTGGCAGG	0.552																																																	0													36	33	34					X																	64738311		2203	4300	6503	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1483G>A	X.37:g.64738311C>T	ENSP00000363944:p.Glu495Lys		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.E495K	ENST00000374811.3	37	c.1483	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980920	0.34942	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.62	3.74	0.42951	.	0.989889	0.08211	N	0.980664	T	0.34774	0.0909	L	0.54323	1.7	0.18873	N	0.999986	P;P;P;P	0.49635	0.792;0.926;0.913;0.681	B;B;B;B	0.42282	0.116;0.382;0.163;0.116	T	0.25082	-1.0142	9	0.52906	T	0.07	.	6.8874	0.24209	0.0:0.8715:0.0:0.1285	.	436;478;495;8	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	K	478;495;436	.	ENSP00000363937:E436K	E	-	1	0	LAS1L	64655036	0.532000	0.26346	0.047000	0.18901	0.337000	0.28794	3.143000	0.50608	1.875000	0.54330	0.468000	0.43344	GAG	LAS1L	-	NULL		0.552	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64738311	-1	no_errors	ENST00000374811	ensembl	human	known	70_37	missense	SNP	0.002	T	T	64738311	C	T	64738311	3	4	81	1	0	0	0	0	1	0	0	0	8656	893	31	1	733	1	LAS1L	23	64738311	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	15650557	64738311	90532249	127	12554										
TAF1	6872	genome.wustl.edu	37	chrX	70683738	70683738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	acacaagcttcagcagcatcGgtgggtatgaggtatcagag	13	8	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:70683738G>A	ENST00000373790.4	+	38	5512	c.5461G>A	c.(5461-5463)Ggt>Agt	p.G1821S	TAF1_ENST00000276072.3_Missense_Mutation_p.G1842S|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000449580.1_Missense_Mutation_p.G1855S|TAF1_ENST00000423759.1_Missense_Mutation_p.G1844S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1821	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGCAGCATCGGTGGGTATGA	0.542																																																	0													94	65	75					X																	70683738		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5461G>A	X.37:g.70683738G>A	ENSP00000362895:p.Gly1821Ser		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.G1855S	ENST00000373790.4	37	c.5563	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	g	21.1	4.102254	0.76983	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09630	2.96;2.97;3.01;2.96	4.74	4.74	0.60224	.	0.050938	0.85682	D	0.000000	T	0.10594	0.0259	N	0.22421	0.69	0.49687	D	0.999816	D;D;D	0.60160	0.976;0.977;0.987	B;B;P	0.45681	0.302;0.296;0.49	T	0.25676	-1.0125	10	0.27082	T	0.32	.	16.9803	0.86325	0.0:0.0:1.0:0.0	.	1855;1821;1842	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	S	1821;1855;1844;1842	ENSP00000362895:G1821S;ENSP00000389000:G1855S;ENSP00000406549:G1844S;ENSP00000276072:G1842S	ENSP00000276072:G1842S	G	+	1	0	TAF1	70600463	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.857000	0.75455	2.187000	0.69744	0.287000	0.19450	GGT	TAF1	-	pirsf_TAF1_animal		0.542	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70683738	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70683738	G	A	70683738	3	1	81	1	0	0	0	0	1	0	0	0	15543	1116	39	2	5674	2	TAF1	23	70683738	Missense_Mutation	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	5945427	70683738	84586822	128	12555										
LPAR4	2846	genome.wustl.edu	37	chrX	78010489	78010489	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gattccttcaagtataatctCaatggtgctgtctacagtgt	8	8	3	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:78010489C>G	ENST00000435339.3	+	2	509	c.123C>G	c.(121-123)ctC>ctG	p.L41L		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	41					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AGTATAATCTCAATGGTGCTG	0.408																																																	0													336	278	297					X																	78010489		2203	4300	6503	SO:0001819	synonymous_variant	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.123C>G	X.37:g.78010489C>G			B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_7TM	p.L41	ENST00000435339.3	37	c.123	CCDS14441.1	X																																																																																			LPAR4	-	prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor		0.408	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR4	HGNC	protein_coding	OTTHUMT00000057322.2	C	NM_005296		78010489	1	no_errors	ENST00000373301	ensembl	human	known	70_37	silent	SNP	1.000	G	G	78010489	C	G	78010489	2	3	81	1	0	0	0	0	0	0	0	1	8930	813	29	1		1	LPAR4	23	78010489	Silent	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	7326751	78010489	77260071	129	12556										
COL4A6	1288	genome.wustl.edu	37	chrX	107414135	107414135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	tattgcctattagtccatctCttccttttgtgcctataaaa	4	10	1	0			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:107414135C>T	ENST00000372216.4	-	34	3393	c.3293G>A	c.(3292-3294)aGa>aAa	p.R1098K	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1097K|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1097K|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1098K|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1097K	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1098	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAGTCCATCTCTTCCTTTTGT	0.423									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													177	146	156					X																	107414135		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3293G>A	X.37:g.107414135C>T	ENSP00000361290:p.Arg1098Lys		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1098K	ENST00000372216.4	37	c.3293	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	7.290	0.610785	0.14066	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.21	1.61	0.23674	.	0.552796	0.15409	N	0.263886	T	0.81153	0.4763	N	0.17345	0.48	0.09310	N	1	B;B;B;B	0.16802	0.015;0.0;0.019;0.019	B;B;B;B	0.19666	0.019;0.001;0.026;0.014	T	0.64499	-0.6393	10	0.07482	T	0.82	.	0.383	0.00398	0.194:0.2754:0.1951:0.3356	.	1097;1097;1098;1097	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	K	1098;1097;1098;1097;1097;1097	ENSP00000361290:R1098K;ENSP00000334733:R1097K;ENSP00000378340:R1098K;ENSP00000443707:R1097K;ENSP00000445236:R1097K	ENSP00000334733:R1097K	R	-	2	0	COL4A6	107300791	0.000000	0.05858	0.148000	0.22405	0.023000	0.10783	0.025000	0.13577	0.330000	0.23485	-0.503000	0.04515	AGA	COL4A6	-	pfam_Collagen		0.423	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	C			107414135	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.000	T	T	107414135	C	T	107414135	3	4	81	1	0	0	0	0	1	0	0	0	3700	913	32	1	1830	1	COL4A6	23	107414135	Missense_Mutation	SNP	C	TCGA-EA-A43B-01A-81D-A243-09	29403646	107414135	47856425	130	12557										
GAB3	139716	genome.wustl.edu	37	chrX	153940975	153940975	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.461538461538462	60	4.90609816888246e-24	4.20157068062827	5.39785122164049	3.09731171969392	0.0243882811259451	0.0815745954902302	46	gctatcacatctggtgggtaGactggggaagaaaagcatgt	14	6	2	2			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:153940975G>C	ENST00000369575.3	-	4	626	c.595C>G	c.(595-597)Cta>Gta	p.L199V	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Splice_Site_p.L200V	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	199					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGGTGGGTAGACTGGGGAAG	0.507																																																	0													43	39	40					X																	153940975		2203	4299	6502	SO:0001630	splice_region_variant	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.594-1C>G	X.37:g.153940975G>C			A6NHF8|E9PB44	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L200V	ENST00000369575.3	37	c.598	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	G	5.948	0.358979	0.11239	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.19532	2.14;2.14;2.14	5.53	1.24	0.21308	.	0.812380	0.10805	N	0.632275	T	0.18593	0.0446	M	0.73962	2.25	0.09310	N	0.999999	B;P;P	0.39282	0.267;0.666;0.666	B;B;B	0.33339	0.058;0.162;0.162	T	0.22173	-1.0224	10	0.07175	T	0.84	-16.2909	9.0138	0.36157	0.0875:0.375:0.5375:0.0	.	200;200;199	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	V	199;200;200	ENSP00000358588:L199V;ENSP00000358581:L200V;ENSP00000399588:L200V	ENSP00000358581:L200V	L	-	1	2	GAB3	153594169	0.999000	0.42202	0.994000	0.49952	0.477000	0.33069	1.839000	0.39220	0.464000	0.27142	0.506000	0.49869	CTA	GAB3	-	NULL		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	G	NM_001081573	Missense_Mutation	153940975	-1	no_errors	ENST00000424127	ensembl	human	known	70_37	missense	SNP	0.099	C	C	153940975	G	C	153940975	5	2	81	1	0	0	0	0	0	0	1	0	6168	956	33	1	1193	1	GAB3	23	153940975	Splice_Site	SNP	G	TCGA-EA-A43B-01A-81D-A243-09	46526840	153940975	1329585	131	12558										
AGBL4	84871	genome.wustl.edu	37	chr1	49511375	49511375	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gtaagcaaactggtaaatatCttcttctcggtcaaaacaaa	6	8	4	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:49511375C>A	ENST00000371839.1	-	5	591	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371836.1_Missense_Mutation_p.D159Y|AGBL4_ENST00000371838.1_Missense_Mutation_p.D159Y	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	159					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TGGTAAATATCTTCTTCTCGG	0.433																																																	0													118	104	108					1																	49511375		692	1591	2283	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.475G>T	1.37:g.49511375C>A	ENSP00000360905:p.Asp159Tyr		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.D159Y	ENST00000371839.1	37	c.475	CCDS44137.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.655789|4.655789	0.88056|0.88056	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836|ENST00000416121	T;T;T|.	0.33865|.	1.39;1.39;1.39|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.059217|.	0.64402|.	D|.	0.000007|.	D|D	0.87807|0.87807	0.6270|0.6270	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.987;0.947|.	D|D	0.91051|0.91051	0.4878|0.4878	9|5	.|.	.|.	.|.	-14.3269|-14.3269	18.6038|18.6038	0.91259|0.91259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	171;4;159|.	Q5VU57-2;B1AMW2;Q5VU57|.	.;.;CBPC6_HUMAN|.	Y|N	159;153;159;159|4	ENSP00000360905:D159Y;ENSP00000360904:D159Y;ENSP00000360902:D159Y|.	.|.	D|K	-|-	1|3	0|2	AGBL4|AGBL4	49283962|49283962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.463000|7.463000	0.80869|0.80869	2.640000|2.640000	0.89533|0.89533	0.563000|0.563000	0.77884|0.77884	GAT|AAG	AGBL4	-	NULL		0.433	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	C	NM_032785		49511375	-1	no_errors	ENST00000371839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49511375	C	A	49511375	3	1	82	1	0	0	0	0	1	0	0	0	377	913	32	3	1076	3	AGBL4	1	49511375	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		49511375	199739246	1	12559										
ASH1L	55870	genome.wustl.edu	37	chr1	155340568	155340568	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	atcatcatttaccaccgtacCtgaactcctgttcactgacg	5	14	3	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:155340568C>T	ENST00000368346.3	-	11	7193	c.6554G>A	c.(6553-6555)aGg>aAg	p.R2185K	ASH1L_ENST00000392403.3_Splice_Site_p.R2180K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2185	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCACCGTACCTGAACTCCTG	0.408																																																	0													102	111	108					1																	155340568		2203	4300	6503	SO:0001630	splice_region_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6554+1G>A	1.37:g.155340568C>T			Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R2185K	ENST00000368346.3	37	c.6554		1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039182	0.75617	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.81078	-1.45;-1.45	5.4	5.4	0.78164	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	N	0.12853	0.265	0.80722	D	1	D;P	0.53151	0.958;0.949	D;D	0.72625	0.978;0.963	T	0.76881	-0.2795	9	.	.	.	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	2185;2180	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	2185;2180	ENSP00000357330:R2185K;ENSP00000376204:R2180K	.	R	-	2	0	ASH1L	153607192	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.796000	0.85898	2.548000	0.85928	0.650000	0.86243	AGG	ASH1L	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489	Missense_Mutation	155340568	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155340568	C	T	155340568	5	4	82	1	0	0	0	0	0	0	1	0	1042	695	24	4	2427	4	ASH1L	1	155340568	Splice_Site	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	105829193	155340568	93910053	2	12560										
FCRL3	115352	genome.wustl.edu	37	chr1	157665960	157665960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gccaacagggaacgctgggtCtttctacccaggcttcttac	10	13	3	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:157665960C>G	ENST00000368184.3	-	7	1293	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	FCRL3_ENST00000368186.5_Missense_Mutation_p.K334N|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	334	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AACGCTGGGTCTTTCTACCCA	0.507																																																	0													130	117	122					1																	157665960		2203	4300	6503	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1002G>C	1.37:g.157665960C>G	ENSP00000357167:p.Lys334Asn		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K334N	ENST00000368184.3	37	c.1002	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905099	0.52333	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12984	2.63;2.63	5.35	0.975	0.19721	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15522	0.0374	M	0.72894	2.215	0.09310	N	1	P;D;P	0.55172	0.888;0.97;0.864	P;D;P	0.65987	0.649;0.94;0.461	T	0.06303	-1.0834	9	0.39692	T	0.17	.	7.5824	0.27972	0.0:0.5907:0.0:0.4093	.	334;239;334	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	N	334	ENSP00000357169:K334N;ENSP00000357167:K334N	ENSP00000292392:K334N	K	-	3	2	FCRL3	155932584	0.873000	0.30073	0.004000	0.12327	0.050000	0.14768	0.897000	0.28390	0.156000	0.19299	0.655000	0.94253	AAG	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.507	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	C	NM_052939		157665960	-1	no_errors	ENST00000368186	ensembl	human	known	70_37	missense	SNP	0.024	G	G	157665960	C	G	157665960	3	3	82	1	0	0	0	0	1	0	0	0	5814	912	32	1	1238	1	FCRL3	1	157665960	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	2325392	157665960	91584661	3	12561										
USH2A	7399	genome.wustl.edu	37	chr1	216390881	216390881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ctcctgagagatgacaattaCaaggctgacatctgaaaaca	8	9	1	5			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:216390881C>A	ENST00000307340.3	-	15	3391	c.3005G>T	c.(3004-3006)tGt>tTt	p.C1002F	USH2A_ENST00000366943.2_Missense_Mutation_p.C1002F|USH2A_ENST00000366942.3_Missense_Mutation_p.C1002F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1002	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGACAATTACAAGGCTGACA	0.373										HNSCC(13;0.011)																																							0													66	62	63					1																	216390881		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3005G>T	1.37:g.216390881C>A	ENSP00000305941:p.Cys1002Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.C1002F	ENST00000307340.3	37	c.3005	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135723	0.77662	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.94330	-3.4;-3.4;-3.4	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.44902	U	0.000420	D	0.98264	0.9425	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99811	1.1041	10	0.87932	D	0	.	18.78	0.91928	0.0:1.0:0.0:0.0	.	1002;1002	O75445-2;O75445	.;USH2A_HUMAN	F	1002	ENSP00000305941:C1002F;ENSP00000355910:C1002F;ENSP00000355909:C1002F	ENSP00000305941:C1002F	C	-	2	0	USH2A	214457504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.846000	0.62860	2.443000	0.82685	0.591000	0.81541	TGT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216390881	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	A	A	216390881	C	A	216390881	3	1	82	1	0	0	0	0	1	0	0	0	17067	478	17	4	12849	4	USH2A	1	216390881	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	58724921	216390881	32859740	4	12562										
APOB	338	genome.wustl.edu	37	chr2	21231445	21231445	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tctaatgtgaaaagaggagaTtggattttcagaatactgta	10	3	2	4			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:21231445T>A	ENST00000233242.1	-	26	8422	c.8295A>T	c.(8293-8295)caA>caT	p.Q2765H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2765					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAGGAGATTGGATTTTCA	0.438																																																	0													136	138	137					2																	21231445		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8295A>T	2.37:g.21231445T>A	ENSP00000233242:p.Gln2765His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q2765H	ENST00000233242.1	37	c.8295	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	6.874	0.530731	0.13127	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00776	5.71	5.36	-4.97	0.03029	.	0.156624	0.30311	N	0.009915	T	0.01156	0.0038	M	0.70595	2.14	0.58432	D	0.999998	D	0.57899	0.981	P	0.48840	0.592	T	0.59968	-0.7354	10	0.33940	T	0.23	.	4.995	0.14233	0.1716:0.1284:0.092:0.608	.	2765	P04114	APOB_HUMAN	H	2765	ENSP00000233242:Q2765H	ENSP00000233242:Q2765H	Q	-	3	2	APOB	21084950	0.000000	0.05858	0.963000	0.40424	0.264000	0.26372	-3.191000	0.00564	-0.533000	0.06323	-0.375000	0.07067	CAA	APOB	-	NULL		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	T			21231445	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.002	A	A	21231445	T	A	21231445	3	1	82	1	0	0	0	0	1	0	0	0	785	1490	52	5	5412	5	APOB	2	21231445	Missense_Mutation	SNP	T	TCGA-EA-A44S-01A-12D-A26G-09		21231445	221967928	5	12563										
ALMS1	7840	genome.wustl.edu	37	chr2	73659359	73659359	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	cggaatatcactcttcagatCtcagaatgttgaggatgtct	9	8	5	3			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:73659359C>T	ENST00000264448.6	+	7	1483	c.1372C>T	c.(1372-1374)Ctc>Ttc	p.L458F	ALMS1_ENST00000377715.1_Missense_Mutation_p.L458F|ALMS1_ENST00000409009.1_Missense_Mutation_p.L416F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	458					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTTCAGATCTCAGAATGTT	0.393																																																	0													98	91	93					2																	73659359		1855	4096	5951	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1372C>T	2.37:g.73659359C>T	ENSP00000264448:p.Leu458Phe		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.L458F	ENST00000264448.6	37	c.1372	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882998	0.33255	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.28895	2.45;2.45;1.59	4.41	4.41	0.53225	.	0.000000	0.41001	D	0.000964	T	0.44095	0.1277	L	0.36672	1.1	0.29702	N	0.840121	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.30851	-0.9964	10	0.87932	D	0	.	12.8049	0.57607	0.0:1.0:0.0:0.0	.	416;458	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	F	416;458;458	ENSP00000386627:L416F;ENSP00000264448:L458F;ENSP00000366944:L458F	ENSP00000264448:L458F	L	+	1	0	ALMS1	73512867	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.594000	0.54008	2.745000	0.94114	0.462000	0.41574	CTC	ALMS1	-	NULL		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73659359	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73659359	C	T	73659359	3	4	82	1	0	0	0	0	1	0	0	0	535	913	32	1	1398	1	ALMS1	2	73659359	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	52427914	73659359	169540014	6	12564										
ACVR2A	92	genome.wustl.edu	37	chr2	148676157	148676157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gccacaaacctgccatatctCacaggtagactaaatttata	5	11	1	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:148676157C>T	ENST00000241416.7	+	7	1594	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	ACVR2A_ENST00000404590.1_Missense_Mutation_p.H320Y|ACVR2A_ENST00000535787.1_Missense_Mutation_p.H212Y	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCATATCTCACAGGTAGAC	0.348																																																	0													42	44	43					2																	148676157		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.958C>T	2.37:g.148676157C>T	ENSP00000241416:p.His320Tyr		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.H320Y	ENST00000241416.7	37	c.958	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876429	0.91664	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.98649	-5.05;-5.05;-5.05	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99107	1.0845	10	0.87932	D	0	.	17.8561	0.88764	0.0:1.0:0.0:0.0	.	320	P27037	AVR2A_HUMAN	Y	320;212;320	ENSP00000241416:H320Y;ENSP00000439988:H212Y;ENSP00000384338:H320Y	ENSP00000241416:H320Y	H	+	1	0	ACVR2A	148392627	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.652000	0.90054	0.563000	0.77884	CAC	ACVR2A	-	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		0.348	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	C	NM_001616		148676157	1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148676157	C	T	148676157	3	4	82	1	0	0	0	0	1	0	0	0	223	826	29	1	984	1	ACVR2A	2	148676157	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	75016798	148676157	94523216	7	12565										
TTN	7273	genome.wustl.edu	37	chr2	179472653	179472653	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	acggaccttgatcatcttctCtgtgcagcgtgaccattcat	8	12	4	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:179472653C>T	ENST00000591111.1	-	226	48162	c.47938G>A	c.(47938-47940)Gag>Aag	p.E15980K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15053K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8681K|TTN_ENST00000460472.2_Missense_Mutation_p.E8556K|TTN_ENST00000342175.6_Missense_Mutation_p.E8748K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17621K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15980	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCATCTTCTCTGTGCAGCGT	0.493																																																	0													147	144	145					2																	179472653		2021	4186	6207	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47938G>A	2.37:g.179472653C>T	ENSP00000465570:p.Glu15980Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E15053K	ENST00000591111.1	37	c.45157		2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208148	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54029	0.1833	L	0.31578	0.945	0.80722	D	1	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48368	0.575;0.575;0.575;0.575	T	0.55891	-0.8069	9	0.87932	D	0	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	8556;8681;8748;15980	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15053;8556;8748;8681;8556	ENSP00000343764:E15053K;ENSP00000434586:E8556K;ENSP00000340554:E8748K;ENSP00000352154:E8681K	ENSP00000340554:E8748K	E	-	1	0	TTN	179180898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.767000	0.85331	2.866000	0.98385	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179472653	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179472653	C	T	179472653	3	4	82	1	0	0	0	0	1	0	0	0	16766	922	32	1	55180	1	TTN	2	179472653	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	30796496	179472653	63726720	8	12566										
FSIP2	401024	genome.wustl.edu	37	chr2	186670383	186670383	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	caatcatataaagatacttcTtccaccccagattgcaaaaa	3	11	2	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:186670383T>C	ENST00000424728.1	+	17	16350	c.16350T>C	c.(16348-16350)tcT>tcC	p.S5450S	FSIP2_ENST00000343098.5_Silent_p.S5539S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5450										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAGATACTTCTTCCACCCCAG	0.343																																																	0													81	76	78					2																	186670383		1832	4080	5912	SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16350T>C	2.37:g.186670383T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.S5539	ENST00000424728.1	37	c.16617		2																																																																																			FSIP2	-	NULL		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	T	NM_173651		186670383	1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.003	C	C	186670383	T	C	186670383	2	2	82	1	0	0	0	0	0	0	0	1	6093	1596	56	5		5	FSIP2	2	186670383	Silent	SNP	T	TCGA-EA-A44S-01A-12D-A26G-09	7197730	186670383	56528990	9	12567										
CASP10	843	genome.wustl.edu	37	chr2	202060612	202060612	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	acaaggaagccgagtcgtatCaaggagaggaagaactagtt	13	6	1	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:202060612C>G	ENST00000272879.5	+	5	809	c.625C>G	c.(625-627)Caa>Gaa	p.Q209E	CASP10_ENST00000374650.3_Missense_Mutation_p.Q209E|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209E|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209E|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209E|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209E|CASP10_ENST00000286186.6_Missense_Mutation_p.Q209E	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433																																																	0													225	210	215					2																	202060612		2203	4300	6503	SO:0001583	missense	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.625C>G	2.37:g.202060612C>G	ENSP00000272879:p.Gln209Glu		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q209E	ENST00000272879.5	37	c.625	CCDS2338.1	2	.	.	.	.	.	.	.	.	.	.	C	7.243	0.601691	0.13939	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.44482	4.5;0.92;4.42;0.94;4.46;4.17;4.39	3.42	2.52	0.30459	.	1.988590	0.02064	N	0.051008	T	0.23054	0.0557	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.17038	0.0;0.003;0.013;0.001;0.0;0.02	B;B;B;B;B;B	0.12156	0.002;0.003;0.005;0.003;0.003;0.007	T	0.25012	-1.0144	10	0.02654	T	1	.	8.9003	0.35490	0.0:0.7725:0.2275:0.0	.	209;209;209;209;209;209	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	E	209	ENSP00000286186:Q209E;ENSP00000353250:Q209E;ENSP00000272879:Q209E;ENSP00000363781:Q209E;ENSP00000237865:Q209E;ENSP00000314599:Q209E;ENSP00000396835:Q209E	ENSP00000272879:Q209E	Q	+	1	0	CASP10	201768857	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.171000	0.31896	0.992000	0.38840	0.655000	0.94253	CAA	CASP10	-	NULL		0.433	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	HGNC	protein_coding	OTTHUMT00000256273.1	C	NM_032977		202060612	1	no_errors	ENST00000286186	ensembl	human	known	70_37	missense	SNP	0.001	G	G	202060612	C	G	202060612	3	3	82	1	0	0	0	0	1	0	0	0	2674	827	29	1	639	1	CASP10	2	202060612	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	15390229	202060612	41138761	10	12568										
MARCH4	57574	genome.wustl.edu	37	chr2	217142480	217142480	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tgccatcttgccgaggggctGaaagttgaccagatgagcca	13	10	1	4	rs139354980		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:217142480G>A	ENST00000273067.4	-	3	2546	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	260						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGAGGGGCTGAAAGTTGACC	0.557																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	142	119	127		780	5.4	1	2	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous	MARCH4	NM_020814.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		260/411	217142480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.780C>T	2.37:g.217142480G>A			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.F260	ENST00000273067.4	37	c.780	CCDS33376.1	2																																																																																			MARCH4	-	NULL		0.557	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	G	NM_020814		217142480	-1	no_errors	ENST00000273067	ensembl	human	known	70_37	silent	SNP	1.000	A	A	217142480	G	A	217142480	2	1	82	1	0	0	0	0	0	0	0	1	9326	1281	45	1		1	MARCH4	2	217142480	Silent	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	15081868	217142480	26056893	11	12569										
FARP2	9855	genome.wustl.edu	37	chr2	242430486	242430486	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ctccctgcagcactcggctgGagaaagagaagtggatgctg	14	10	0	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:242430486G>T	ENST00000264042.3	+	23	2685	c.2515G>T	c.(2515-2517)Gag>Tag	p.E839*		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	839	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CACTCGGCTGGAGAAAGAGAA	0.642																																																	0													80	81	81					2																	242430486		2203	4300	6503	SO:0001587	stop_gained	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2515G>T	2.37:g.242430486G>T	ENSP00000264042:p.Glu839*		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E839*	ENST00000264042.3	37	c.2515	CCDS33424.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.687500|4.687500	0.88639|0.88639	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000264042|ENST00000444371	.|.	.|.	.|.	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72187	.|0.3429	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72554	.|-0.4258	.|4	0.66056|.	D|.	0.02|.	.|.	17.3376|17.3376	0.87286|0.87286	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	839|32	.|.	ENSP00000264042:E839X|.	E|G	+|+	1|2	0|0	FARP2|FARP2	242079159|242079159	1.000000|1.000000	0.71417|0.71417	0.574000|0.574000	0.28523|0.28523	0.834000|0.834000	0.47266|0.47266	8.684000|8.684000	0.91242|0.91242	2.267000|2.267000	0.75376|0.75376	0.655000|0.655000	0.94253|0.94253	GAG|GGA	FARP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242430486	1	no_errors	ENST00000264042	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	242430486	G	T	242430486	4	4	82	1	0	0	0	0	0	1	0	0	5695	1175	41	3	2601	3	FARP2	2	242430486	Nonsense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	25288006	242430486	768887	12	12570										
BAP1	8314	genome.wustl.edu	37	chr3	52439883	52439883	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ctcaggcagctgtgactcttGagacttgtgggtctgaatca	12	9	4	3			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr3:52439883G>A	ENST00000460680.1	-	10	1300	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q259*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	188					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGTGACTCTTGAGACTTGTGG	0.557			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													70	69	69					3																	52439883		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.829C>T	3.37:g.52439883G>A	ENSP00000417132:p.Gln277*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.Q277*	ENST00000460680.1	37	c.829	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790313	0.90367	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.166976	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.9603	14.293	0.66292	0.0:0.0:0.8514:0.1486	.	.	.	.	X	277;259	.	ENSP00000296288:Q259X	Q	-	1	0	BAP1	52414923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.663000	0.90544	0.561000	0.74099	CAA	BAP1	-	NULL		0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52439883	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52439883	G	A	52439883	4	1	82	1	0	0	0	0	0	1	0	0	1312	1299	45	1	1392	1	BAP1	3	52439883	Nonsense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		52439883	145582547	13	12571										
FLT4	2324	genome.wustl.edu	37	chr5	180041165	180041165	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ctttcaggggccatccacttCaggggcagccgggcctgggg	16	13	2	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr5:180041165C>T	ENST00000261937.6	-	24	3312	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	FLT4_ENST00000393347.3_Silent_p.L1078L|FLT4_ENST00000502649.1_Silent_p.L1078L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1078	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATCCACTTCAGGGGCAGCC	0.617																																					Colon(97;1075 1466 27033 27547 35871)												0													92	87	88					5																	180041165		2203	4300	6503	SO:0001819	synonymous_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3234G>A	5.37:g.180041165C>T			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L1078	ENST00000261937.6	37	c.3234	CCDS4457.1	5																																																																																			FLT4	-	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,pfscan_Prot_kinase_cat_dom		0.617	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180041165	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	silent	SNP	1.000	T	T	180041165	C	T	180041165	2	4	82	1	0	0	0	0	0	0	0	1	5962	813	29	1		1	FLT4	5	180041165	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		180041165	874095	14	12572										
KIF13A	63971	genome.wustl.edu	37	chr6	17826021	17826021	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ttactattcagggttttcatGataacttccatctgtgcaaa	6	8	3	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr6:17826021G>A	ENST00000259711.6	-	16	1869	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	KIF13A_ENST00000378816.5_Silent_p.I588I|KIF13A_ENST00000378814.5_Silent_p.I588I|KIF13A_ENST00000378826.2_Silent_p.I588I|KIF13A_ENST00000378843.2_Silent_p.I588I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	588					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGGTTTTCATGATAACTTCCA	0.478																																																	0													101	101	101					6																	17826021		1940	4133	6073	SO:0001819	synonymous_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1764C>T	6.37:g.17826021G>A			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I588	ENST00000259711.6	37	c.1764	CCDS47381.1	6																																																																																			KIF13A	-	NULL		0.478	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17826021	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17826021	G	A	17826021	2	1	82	1	0	0	0	0	0	0	0	1	8294	1280	45	1		1	KIF13A	6	17826021	Silent	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		17826021	153289046	15	12573										
ZNF193	7746	genome.wustl.edu	37	chr6	28195572	28195572	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	cagcctaaggagccacagctCacatgtgactctgctcagaa	9	13	3	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr6:28195572C>T	ENST00000252207.5	+	3	673	c.525C>T	c.(523-525)ctC>ctT	p.L175L	ZSCAN9_ENST00000531981.1_3'UTR|ZSCAN9_ENST00000531979.1_Silent_p.L175L|ZSCAN9_ENST00000425468.2_Silent_p.L175L|ZSCAN9_ENST00000527436.1_Silent_p.L175L	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	175					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCCACAGCTCACATGTGACT	0.498																																																	0													64	59	61					6																	28195572		2203	4300	6503	SO:0001819	synonymous_variant	7746			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.525C>T	6.37:g.28195572C>T			B4E1W6|E7EVQ2|Q2TTR1	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L175	ENST00000252207.5	37	c.525	CCDS4646.1	6																																																																																			ZNF193	-	NULL		0.498	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF193	HGNC	protein_coding	OTTHUMT00000040183.2	C	NM_006299		28195572	1	no_errors	ENST00000252207	ensembl	human	known	70_37	silent	SNP	0.029	T	T	28195572	C	T	28195572	2	4	82	1	0	0	0	0	0	0	0	1	17787	813	29	1		1	ZNF193	6	28195572	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	10369551	28195572	142919495	16	12574										
TMEM70	54968	genome.wustl.edu	37	chr8	74893836	74893836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	aagaaaccagtgaagagaaaCggcataaagatgacaaatga	10	5	0	6			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr8:74893836C>T	ENST00000312184.5	+	3	836	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	255					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TGAAGAGAAACGGCATAAAGA	0.333																																																	0													41	46	44					8																	74893836		2192	4299	6491	SO:0001583	missense	54968			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.763C>T	8.37:g.74893836C>T	ENSP00000312599:p.Arg255Trp		E9PDY9|Q9NWY5	Missense_Mutation	SNP	pfam_DUF1301_TMEM70	p.R255W	ENST00000312184.5	37	c.763	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956766	0.18507	.	.	ENSG00000175606	ENST00000312184	T	0.37752	1.18	5.25	3.25	0.37280	.	0.941979	0.08803	N	0.891516	T	0.15176	0.0366	N	0.08118	0	0.19300	N	0.999971	P	0.39116	0.66	B	0.32805	0.153	T	0.06427	-1.0827	9	.	.	.	-0.1884	3.6235	0.08104	0.0:0.5592:0.2741:0.1667	.	255	Q9BUB7	TMM70_HUMAN	W	255	ENSP00000312599:R255W	.	R	+	1	2	TMEM70	75056390	0.475000	0.25894	0.648000	0.29521	0.022000	0.10575	0.118000	0.15605	1.388000	0.46506	0.563000	0.77884	CGG	TMEM70	-	NULL		0.333	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	C	NM_017866		74893836	1	no_errors	ENST00000312184	ensembl	human	known	70_37	missense	SNP	0.764	T	T	74893836	C	T	74893836	3	4	82	1	0	0	0	0	1	0	0	0	16229	527	19	2	781	2	TMEM70	8	74893836	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		74893836	71470186	17	12575										
PLEC	5339	genome.wustl.edu	37	chr8	145004627	145004627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tgggctgggtggcggggcttCagctgcacgacggccttggc	19	11	1	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr8:145004627C>T	ENST00000322810.4	-	20	2962	c.2793G>A	c.(2791-2793)ctG>ctA	p.L931L	PLEC_ENST00000356346.3_Silent_p.L780L|PLEC_ENST00000354589.3_Silent_p.L794L|PLEC_ENST00000354958.2_Silent_p.L772L|PLEC_ENST00000398774.2_Silent_p.L762L|PLEC_ENST00000527096.1_Silent_p.L817L|PLEC_ENST00000345136.3_Silent_p.L794L|PLEC_ENST00000357649.2_Silent_p.L798L|PLEC_ENST00000436759.2_Silent_p.L821L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	931	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGGGGCTTCAGCTGCACGA	0.692																																																	0													11	16	14					8																	145004627		1934	4114	6048	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2793G>A	8.37:g.145004627C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L931	ENST00000322810.4	37	c.2793	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145004627	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145004627	C	T	145004627	2	4	82	1	0	0	0	0	0	0	0	1	12076	813	29	1		1	PLEC	8	145004627	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	70110791	145004627	1359395	18	12576										
ABL1	25	genome.wustl.edu	37	chr9	133760373	133760373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gtccaggctcaaacctgcccCgccgcccccaccagcagcct	8	22	1	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:133760373C>T	ENST00000318560.5	+	11	3077	c.2696C>T	c.(2695-2697)cCg>cTg	p.P899L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	899	DNA-binding. {ECO:0000250}.|Poly-Pro.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AAACCTGCCCCGCCGCCCCCA	0.677			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													8	11	10					9																	133760373		2177	4271	6448	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2696C>T	9.37:g.133760373C>T	ENSP00000323315:p.Pro899Leu		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P918L	ENST00000318560.5	37	c.2753	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789027	0.31685	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.35789	1.29;1.29	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41520	-0.9504	10	0.35671	T	0.21	.	17.3455	0.87308	0.0:1.0:0.0:0.0	.	899;936	P00519;Q59FK4	ABL1_HUMAN;.	L	714;918;899	ENSP00000361423:P918L;ENSP00000323315:P899L	ENSP00000323315:P899L	P	+	2	0	ABL1	132750194	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	5.660000	0.68018	2.345000	0.79718	0.561000	0.74099	CCG	ABL1	-	NULL		0.677	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133760373	1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	0.999	T	T	133760373	C	T	133760373	3	4	82	1	0	0	0	0	1	0	0	0	92	652	23	2	2878	2	ABL1	9	133760373	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		133760373	7453058	19	12577										
CEL	1056	genome.wustl.edu	37	chr9	135945997	135945997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ctaccggccccaagacaggaCagtctctaaggccatgatcg	10	14	1	2	rs201677850	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:135945997C>T	ENST00000372080.4	+	10	1461	c.1445C>T	c.(1444-1446)aCa>aTa	p.T482I	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	479					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGACAGGACAGTCTCTAAG	0.607																																																	0													83	95	91					9																	135945997		2003	4163	6166	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1445C>T	9.37:g.135945997C>T	ENSP00000361151:p.Thr482Ile		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T482I	ENST00000372080.4	37	c.1445	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395574	0.62177	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.67171	-0.25	5.69	5.69	0.88448	Carboxylesterase, type B (1);	0.296062	0.38058	N	0.001840	T	0.57344	0.2047	N	0.13327	0.33	0.80722	D	1	D	0.54397	0.966	P	0.50352	0.638	T	0.55386	-0.8149	10	0.26408	T	0.33	.	13.7707	0.63023	0.1534:0.8466:0.0:0.0	.	479	P19835	CEL_HUMAN	I	482;481	ENSP00000361151:T482I	ENSP00000304021:T481I	T	+	2	0	CEL	134935818	0.940000	0.31905	0.109000	0.21407	0.603000	0.37013	2.046000	0.41260	2.698000	0.92095	0.472000	0.43445	ACA	CEL	-	pfam_CarbesteraseB		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	C			135945997	1	no_errors	ENST00000372080	ensembl	human	known	70_37	missense	SNP	0.994	T	T	135945997	C	T	135945997	3	4	82	1	0	0	0	0	1	0	0	0	3214	478	17	4	1483	4	CEL	9	135945997	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	2185624	135945997	5267434	20	12578										
NOXA1	10811	genome.wustl.edu	37	chr9	140320724	140320724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ttgaccaagccgtgaccaagGacacctgcatggcggttggc	13	12	0	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:140320724G>A	ENST00000341349.2	+	2	382	c.202G>A	c.(202-204)Gac>Aac	p.D68N	NOXA1_ENST00000392815.2_Missense_Mutation_p.D68N	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	68	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGTGACCAAGGACACCTGCAT	0.572																																																	0													146	121	130					9																	140320724		2203	4300	6503	SO:0001583	missense	10811			AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.202G>A	9.37:g.140320724G>A	ENSP00000342848:p.Asp68Asn		O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom	p.D68N	ENST00000341349.2	37	c.202	CCDS7042.1	9	.	.	.	.	.	.	.	.	.	.	g	16.52	3.145967	0.57044	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	T;T	0.39229	1.09;1.09	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.137889	0.52532	D	0.000068	T	0.65228	0.2671	M	0.80982	2.52	0.38498	D	0.94816	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73020	-0.4114	10	0.87932	D	0	.	13.1289	0.59369	0.0:0.0:1.0:0.0	.	68;68;68	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	N	68	ENSP00000342848:D68N;ENSP00000376562:D68N	ENSP00000342848:D68N	D	+	1	0	NOXA1	139440545	1.000000	0.71417	0.991000	0.47740	0.076000	0.17211	5.838000	0.69388	2.161000	0.67846	0.550000	0.68814	GAC	NOXA1	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.572	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXA1	HGNC	protein_coding	OTTHUMT00000254713.1	G			140320724	1	no_errors	ENST00000341349	ensembl	human	known	70_37	missense	SNP	0.997	A	A	140320724	G	A	140320724	3	1	82	1	0	0	0	0	1	0	0	0	10584	1174	41	1	208	1	NOXA1	9	140320724	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	4374727	140320724	892707	21	12579										
MASTL	84930	genome.wustl.edu	37	chr10	27459855	27459855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	aagaaatgctgttgcttttcGaagttttaacagtcatatta	7	5	1	1	rs563122532		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr10:27459855G>A	ENST00000375940.4	+	8	2024	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	MASTL_ENST00000342386.6_Missense_Mutation_p.R656Q|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.R656Q			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTGCTTTTCGAAGTTTTAAC	0.398																																																	0													100	100	100					10																	27459855		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1967G>A	10.37:g.27459855G>A	ENSP00000365107:p.Arg656Gln		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	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.R656Q	ENST00000375940.4	37	c.1967	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045618	0.75846	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22539	1.95;1.95;1.95	5.28	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058887	0.64402	N	0.000003	T	0.29817	0.0745	M	0.75264	2.295	0.48452	D	0.999658	D;D;D	0.61697	0.99;0.973;0.98	P;B;B	0.46718	0.525;0.264;0.372	T	0.09509	-1.0671	10	0.46703	T	0.11	-2.5017	11.1234	0.48304	0.1489:0.0:0.8511:0.0	.	656;656;656	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Q	656	ENSP00000365113:R656Q;ENSP00000343446:R656Q;ENSP00000365107:R656Q	ENSP00000343446:R656Q	R	+	2	0	MASTL	27499861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	1.353000	0.45828	0.591000	0.81541	CGA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	G	NM_032844		27459855	1	no_errors	ENST00000375940	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27459855	G	A	27459855	3	1	82	1	0	0	0	0	1	0	0	0	9351	1058	37	1	1997	1	MASTL	10	27459855	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		27459855	108074892	22	12580										
SORBS1	10580	genome.wustl.edu	37	chr10	97192313	97192314	+	Frame_Shift_Ins	INS	-	-	GATTTTT													0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	accgctcccttcccagtgcaINSgatttttgtaagatccatgt							TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr10:97192313_97192314insGATTTTT	ENST00000361941.3	-	4	218_219	c.192_193insAAAAATC	c.(190-195)atctgcfs	p.C65fs	SORBS1_ENST00000607232.1_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000393949.1_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371227.4_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000306402.6_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000277982.5_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371241.1_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000354106.3_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000353505.5_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371245.3_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371247.2_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371239.1_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000347291.4_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371246.2_Frame_Shift_Ins_p.C65fs	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTCCCAGTGCAGATTTTTGTAA	0.49																																																	0																																										SO:0001589	frameshift_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.186_192dupAAAAATC	10.37:g.97192314_97192320dupGATTTTT	ENSP00000355136:p.Cys65fs			Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.C64fs	ENST00000361941.3	37	c.193_192	CCDS31255.1	10																																																																																			SORBS1	-	NULL		0.49	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-			97192314	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GATTTTT	GATTTTT	97192314	-	GATTTTT	97192313	7	5	82	1	0	1	1	0	0	0	0	0	14957	188	7	0	3994	0	SORBS1	10	97192313	Frame_Shift_Ins	INS	-	TCGA-EA-A44S-01A-12D-A26G-09	69732458	97192313	38342434	23	12581										
RNF26	79102	genome.wustl.edu	37	chr11	119206814	119206814	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ggacccggagacaggacactCttcctgaagcggggcgcaga	15	12	1	3			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr11:119206814C>T	ENST00000311413.4	+	1	1578	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	328						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACAGGACACTCTTCCTGAAGC	0.622																																																	0													56	64	61					11																	119206814		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.982C>T	11.37:g.119206814C>T	ENSP00000312439:p.Leu328Phe		Q542Y8	Missense_Mutation	SNP	pfscan_Znf_RING	p.L328F	ENST00000311413.4	37	c.982	CCDS8419.1	11	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.063615	0.01934	.	.	ENSG00000173456	ENST00000311413	T	0.32272	1.46	4.39	1.43	0.22495	.	1.546650	0.04335	N	0.353135	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	P	0.43094	0.799	B	0.41374	0.355	T	0.12192	-1.0557	10	0.09843	T	0.71	0.9851	5.475	0.16690	0.2495:0.5545:0.1216:0.0744	.	328	Q9BY78	RNF26_HUMAN	F	328	ENSP00000312439:L328F	ENSP00000312439:L328F	L	+	1	0	RNF26	118712024	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.062000	0.14389	-0.061000	0.13110	-4.223000	0.00009	CTT	RNF26	-	NULL		0.622	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	C	NM_032015		119206814	1	no_errors	ENST00000311413	ensembl	human	known	70_37	missense	SNP	0.000	T	T	119206814	C	T	119206814	3	4	82	1	0	0	0	0	1	0	0	0	13516	913	32	1	984	1	RNF26	11	119206814	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		119206814	15799702	24	12582										
KCNH3	23416	genome.wustl.edu	37	chr12	49934758	49934758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tgctctgatggcttctgtgaCctcacgggcttctcccgggc	12	14	4	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr12:49934758C>T	ENST00000257981.6	+	2	413	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	51	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTTCTGTGACCTCACGGGCT	0.617																																																	0													69	67	67					12																	49934758		2203	4300	6503	SO:0001819	synonymous_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.153C>T	12.37:g.49934758C>T			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.D51	ENST00000257981.6	37	c.153	CCDS8786.1	12																																																																																			KCNH3	-	pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,pfscan_PAS,tigrfam_PAS		0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	C	NM_012284		49934758	1	no_errors	ENST00000257981	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49934758	C	T	49934758	2	4	82	1	0	0	0	0	0	0	0	1	8053	506	18	4		4	KCNH3	12	49934758	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		49934758	83917137	25	12583										
OR6C1	390321	genome.wustl.edu	37	chr12	55714406	55714407	+	Frame_Shift_Ins	INS	-	-	A													0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	agaaaccatacagaaataacINSagagtttattcttctgggat					rs5798345|rs74350806|rs80197193	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr12:55714406_55714407insA	ENST00000379668.2	+	1	61_62	c.23_24insA	c.(22-27)acagagfs	p.E9fs		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAGAAATAACAGAGTTTATTC	0.381													A|A|AA|insertion	1647	0.328874	0.1634	0.4496	5008	,	,		18561	0.3413		0.4264	False		,,,				2504	0.3538																0										785,3479		74,637,1421						0.1	0		dbSNP_114	61	3536,4718		747,2042,1338	no	frameshift	OR6C1	NM_001005182.1		821,2679,2759	A1A1,A1R,RR		42.8398,18.4099,34.5183				4321,8197				SO:0001589	frameshift_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.24dupA	12.37:g.55714407_55714407dupA	ENSP00000368990:p.Glu9fs		B2RNM0	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E9fs	ENST00000379668.2	37	c.23_24	CCDS31818.1	12																																																																																			OR6C1	-	NULL		0.381	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	-	NM_001005182		55714407	1	no_errors	ENST00000379668	ensembl	human	known	70_37	frame_shift_ins	INS	0.038:0.306	A	A	55714407	-	A	55714406	7	5	82	1	0	1	1	0	0	0	0	0	11214	478	17	0	25	0	OR6C1	12	55714406	Frame_Shift_Ins	INS	-	TCGA-EA-A44S-01A-12D-A26G-09	5779648	55714406	78137489	26	12584										
POLE	5426	genome.wustl.edu	37	chr12	133253176	133253176	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	catcataatctggtctgtctCagcatcaggaaacttgaggg	10	9	5	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr12:133253176C>T	ENST00000320574.5	-	9	908	c.865G>A	c.(865-867)Gag>Aag	p.E289K	POLE_ENST00000535270.1_Missense_Mutation_p.E262K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	289					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGTCTGTCTCAGCATCAGGA	0.498								DNA polymerases (catalytic subunits)																																									0													116	100	105					12																	133253176		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.865G>A	12.37:g.133253176C>T	ENSP00000322570:p.Glu289Lys		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.E300K	ENST00000320574.5	37	c.898	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195886	0.78902	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.44881	2.92;2.92;2.92;0.91	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.46614	1.455	0.80722	D	1	B;B	0.32324	0.364;0.255	B;B	0.39935	0.209;0.314	T	0.21586	-1.0241	10	0.21014	T	0.42	.	19.3785	0.94521	0.0:1.0:0.0:0.0	.	262;289	F5H1D6;Q07864	.;DPOE1_HUMAN	K	289;300;262;69;224	ENSP00000322570:E289K;ENSP00000406383:E300K;ENSP00000445753:E262K;ENSP00000442519:E69K	ENSP00000322570:E289K	E	-	1	0	POLE	131763249	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.997000	0.70646	2.566000	0.86566	0.561000	0.74099	GAG	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	C	NM_006231		133253176	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133253176	C	T	133253176	3	4	82	1	0	0	0	0	1	0	0	0	12220	835	29	1	6159	1	POLE	12	133253176	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	77538770	133253176	598719	27	12585										
PABPC3	5042	genome.wustl.edu	37	chr13	25670978	25670978	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	aaggatctctttggcaagttCgggcccgccttaagtgtgaa	12	9	1	1	rs556008880	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr13:25670978C>T	ENST00000281589.3	+	1	679	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	214	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGCAAGTTCGGGCCCGCCT	0.433													c|||	26	0.00519169	0.0091	0.0058	5008	,	,		20039	0.001		0.003	False		,,,				2504	0.0061																0													88	82	84					13																	25670978		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.642C>T	13.37:g.25670978C>T			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.F214	ENST00000281589.3	37	c.642	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.433	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	C	NM_030979		25670978	1	no_errors	ENST00000281589	ensembl	human	known	70_37	silent	SNP	0.992	T	T	25670978	C	T	25670978	2	4	82	1	0	0	0	0	0	0	0	1	11389	883	31	1		1	PABPC3	13	25670978	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		25670978	89498900	28	12586										
DGKH	160851	genome.wustl.edu	37	chr13	42773749	42773749	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gaacaattactttgggattgGattagatgcaaaaatttcat	8	4	1	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr13:42773749G>C	ENST00000337343.4	+	19	2354	c.2333G>C	c.(2332-2334)gGa>gCa	p.G778A	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.G642A|DGKH_ENST00000261491.5_Missense_Mutation_p.G778A|DGKH_ENST00000538674.1_Missense_Mutation_p.G533A|DGKH_ENST00000540693.1_Missense_Mutation_p.G778A|DGKH_ENST00000379274.2_Missense_Mutation_p.G642A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	778					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284																																																	0													33	35	34					13																	42773749		2197	4283	6480	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2333G>C	13.37:g.42773749G>C	ENSP00000337572:p.Gly778Ala		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.G778A	ENST00000337343.4	37	c.2333	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756329	0.89843	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.97186	3.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97578	1.0109	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	533;642;778;778	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	A	778;778;778;642;642;533	ENSP00000440823:G778A;ENSP00000337572:G778A;ENSP00000261491:G778A;ENSP00000368576:G642A;ENSP00000445114:G642A;ENSP00000441308:G533A	ENSP00000261491:G778A	G	+	2	0	DGKH	41671749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.727000	0.93392	0.591000	0.81541	GGA	DGKH	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.284	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	G	NM_178009		42773749	1	no_errors	ENST00000337343	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42773749	G	C	42773749	3	2	82	1	0	0	0	0	1	0	0	0	4480	1174	41	1	2407	1	DGKH	13	42773749	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	17102771	42773749	72396129	29	12587										
FSCB	84075	genome.wustl.edu	37	chr14	44975706	44975706	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tggaaataaccactatttctGattcactaaagtatgtctgt	6	7	3	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:44975706G>C	ENST00000340446.4	-	1	776	c.485C>G	c.(484-486)tCa>tGa	p.S162*	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	162						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CACTATTTCTGATTCACTAAA	0.428																																																	0													183	184	184					14																	44975706		2203	4300	6503	SO:0001587	stop_gained	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.485C>G	14.37:g.44975706G>C	ENSP00000344579:p.Ser162*		Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	NULL	p.S162*	ENST00000340446.4	37	c.485	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.153555	0.97329	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	5.4	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.142	8.3401	0.32239	0.3204:0.0:0.6796:0.0	.	.	.	.	X	162	.	ENSP00000344579:S162X	S	-	2	0	FSCB	44045456	0.073000	0.21202	0.007000	0.13788	0.248000	0.25809	0.633000	0.24598	0.140000	0.18849	0.655000	0.94253	TCA	FSCB	-	NULL		0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	G	NM_032135		44975706	-1	no_errors	ENST00000340446	ensembl	human	known	70_37	nonsense	SNP	0.043	C	C	44975706	G	C	44975706	4	2	82	1	0	0	0	0	0	1	0	0	6084	1294	45	1	1996	1	FSCB	14	44975706	Nonsense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		44975706	62373834	30	12588										
SIX6	4990	genome.wustl.edu	37	chr14	60976683	60976683	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gaccgagcggctgcagccaaGaacaggtcggtacctagagg	15	11	0	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:60976683G>A	ENST00000327720.5	+	1	1015	c.567G>A	c.(565-567)aaG>aaA	p.K189K		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CTGCAGCCAAGAACAGGTCGG	0.642																																																	0													12	13	13					14																	60976683		2196	4291	6487	SO:0001819	synonymous_variant	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.567G>A	14.37:g.60976683G>A			Q6NT42|Q9P1X8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.K189	ENST00000327720.5	37	c.567	CCDS9747.1	14																																																																																			SIX6	-	superfamily_Homeodomain-like,smart_Homeodomain		0.642	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	G			60976683	1	no_errors	ENST00000327720	ensembl	human	known	70_37	silent	SNP	1.000	A	A	60976683	G	A	60976683	2	1	82	1	0	0	0	0	0	0	0	1	14381	933	33	1		1	SIX6	14	60976683	Silent	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	16000977	60976683	46372857	31	12589										
STON2	85439	genome.wustl.edu	37	chr14	81743548	81743548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	catcctcagccagctctgcaCctccacctctgccccattga	5	20	3	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:81743548C>T	ENST00000267540.2	-	4	2307	c.2107G>A	c.(2107-2109)Gtg>Atg	p.V703M	STON2_ENST00000555447.1_Missense_Mutation_p.V703M|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	703	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGCTCTGCACCTCCACCTCT	0.562																																																	0													120	118	118					14																	81743548		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2107G>A	14.37:g.81743548C>T	ENSP00000267540:p.Val703Met		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.V703M	ENST00000267540.2	37	c.2107	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543661	0.27563	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.21932	1.98;1.98	6.06	5.13	0.70059	Clathrin adaptor, mu subunit, C-terminal (3);	0.219333	0.38897	N	0.001538	T	0.17831	0.0428	N	0.19112	0.55	0.41020	D	0.985078	P;P	0.39696	0.683;0.633	B;B	0.39771	0.309;0.276	T	0.02698	-1.1122	10	0.42905	T	0.14	-21.0631	18.0798	0.89439	0.0:0.7925:0.2075:0.0	.	703;703	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	703;715;703	ENSP00000450857:V703M;ENSP00000267540:V703M	ENSP00000267540:V703M	V	-	1	0	STON2	80813301	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.742000	0.38248	2.879000	0.98667	0.650000	0.86243	GTG	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C		0.562	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	C	NM_033104		81743548	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81743548	C	T	81743548	3	4	82	1	0	0	0	0	1	0	0	0	15348	507	18	4	616	4	STON2	14	81743548	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	20766865	81743548	25605992	32	12590										
SERPINA6	866	genome.wustl.edu	37	chr14	94780691	94780691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gatctcagtctcagacctctCagtgaggttgaaacccaggc	10	12	3	3			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:94780691C>T	ENST00000341584.3	-	2	441	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	99					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGACCTCTCAGTGAGGTTG	0.562																																																	0													54	55	55					14																	94780691		2203	4300	6503	SO:0001583	missense	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.295G>A	14.37:g.94780691C>T	ENSP00000342850:p.Glu99Lys		A8K456|Q7Z2Q9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.E99K	ENST00000341584.3	37	c.295	CCDS9924.1	14	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634084	0.14322	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.87887	-2.31;-1.69	5.07	-0.434	0.12283	Serpin domain (3);	0.548995	0.17011	N	0.190501	T	0.76428	0.3986	L	0.33624	1.015	0.09310	N	1	B	0.21147	0.052	B	0.20384	0.029	T	0.61893	-0.6969	10	0.38643	T	0.18	.	5.8871	0.18888	0.0:0.349:0.3601:0.2909	.	99	P08185	CBG_HUMAN	K	99	ENSP00000342850:E99K;ENSP00000452018:E99K	ENSP00000342850:E99K	E	-	1	0	SERPINA6	93850444	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.052000	0.11865	-0.259000	0.09432	0.563000	0.77884	GAG	SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.562	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1	C	NM_001756		94780691	-1	no_errors	ENST00000341584	ensembl	human	known	70_37	missense	SNP	0.001	T	T	94780691	C	T	94780691	3	4	82	1	0	0	0	0	1	0	0	0	14123	835	29	1	938	1	SERPINA6	14	94780691	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	13037143	94780691	12568849	33	12591										
ATP10A	57194	genome.wustl.edu	37	chr15	25966967	25966967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	agctgcgagtctgtttcttcGtcatacaactgcatgtcctg	9	11	3	0	rs542299949		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr15:25966967G>A	ENST00000356865.6	-	7	1311	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	400					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGTTTCTTCGTCATACAACT	0.423													g|||	1	0.000199681	0	0.0014	5008	,	,		19407	0		0	False		,,,				2504	0																0													136	125	128					15																	25966967		2203	4300	6503	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1200C>T	15.37:g.25966967G>A			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D400	ENST00000356865.6	37	c.1200	CCDS32178.1	15																																																																																			ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.423	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25966967	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	silent	SNP	0.300	A	A	25966967	G	A	25966967	2	1	82	1	0	0	0	0	0	0	0	1	1117	1136	40	2		2	ATP10A	15	25966967	Silent	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		25966967	76564425	34	12592										
PAK6	56924	genome.wustl.edu	37	chr15	40558568	40558568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ccacaggcaggccaggtgggGaaggcagccctagccctaag	15	13	0	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr15:40558568G>A	ENST00000542403.2	+	3	841	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PAK6_ENST00000441369.1_Missense_Mutation_p.E244K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.E244K|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.E244K|PAK6_ENST00000453867.1_Missense_Mutation_p.E244K|PAK6_ENST00000455577.2_Missense_Mutation_p.E244K	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	244	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCCAGGTGGGGAAGGCAGCCC	0.642																																																	0													22	27	25					15																	40558568		2193	4291	6484	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.730G>A	15.37:g.40558568G>A	ENSP00000439597:p.Glu244Lys		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.E244K	ENST00000542403.2	37	c.730	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498662	0.64298	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73681	-0.73;-0.73;-0.77;-0.73;-0.73	5.35	5.35	0.76521	.	0.647706	0.16493	N	0.212014	T	0.75568	0.3867	L	0.27053	0.805	0.53005	D	0.999969	D;D	0.60160	0.957;0.987	P;P	0.54270	0.563;0.747	T	0.76102	-0.3082	10	0.45353	T	0.12	.	19.0762	0.93163	0.0:0.0:1.0:0.0	.	244;244	Q9NQU5;G5E9R2	PAK6_HUMAN;.	K	244	ENSP00000406873:E244K;ENSP00000401153:E244K;ENSP00000409465:E244K;ENSP00000260404:E244K;ENSP00000439597:E244K	ENSP00000260404:E244K	E	+	1	0	PAK6	38345860	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.286000	0.72665	2.521000	0.84997	0.462000	0.41574	GAA	PAK6	-	NULL		0.642	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	G			40558568	1	no_errors	ENST00000260404	ensembl	human	known	70_37	missense	SNP	0.999	A	A	40558568	G	A	40558568	3	1	82	1	0	0	0	0	1	0	0	0	11428	1175	41	1	736	1	PAK6	15	40558568	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	14591601	40558568	61972824	35	12593										
USP31	57478	genome.wustl.edu	37	chr16	23079813	23079813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gatgcttgtgctgggggagcGcaggctggccatggaggagc	20	8	0	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr16:23079813G>A	ENST00000219689.7	-	16	3612	c.3613C>T	c.(3613-3615)Cgc>Tgc	p.R1205C	USP31_ENST00000567975.1_Missense_Mutation_p.R498C	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGGGGGAGCGCAGGCTGGCC	0.617																																																	0													67	72	71					16																	23079813		2197	4299	6496	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3613C>T	16.37:g.23079813G>A	ENSP00000219689:p.Arg1205Cys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R1205C	ENST00000219689.7	37	c.3613	CCDS10607.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.836883|3.836883	0.71373|0.71373	.|.	.|.	ENSG00000103404|ENSG00000103404	ENST00000381162|ENST00000219689	.|T	.|0.26223	.|1.75	5.8|5.8	4.85|4.85	0.62838|0.62838	.|.	.|0.716733	.|0.13367	.|N	.|0.393246	T|T	0.49729|0.49729	0.1574|0.1574	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|P;D	.|0.71414	.|0.877;0.973	T|T	0.46748|0.46748	-0.9169|-0.9169	6|10	0.87932|0.87932	D|D	0|0	-7.0903|-7.0903	13.9252|13.9252	0.63958|0.63958	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	.|1205;498	.|Q70CQ4;B3KS48	.|UBP31_HUMAN;.	V|C	427|1205	.|ENSP00000219689:R1205C	ENSP00000370554:A427V|ENSP00000219689:R1205C	A|R	-|-	2|1	0|0	USP31|USP31	22987314|22987314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.288000|4.288000	0.59007|0.59007	1.459000|1.459000	0.47892|0.47892	0.655000|0.655000	0.94253|0.94253	GCG|CGC	USP31	-	NULL		0.617	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23079813	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23079813	G	A	23079813	3	1	82	1	0	0	0	0	1	0	0	0	17093	1087	38	2	449	2	USP31	16	23079813	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		23079813	67274940	36	12594										
JMJD5	79831	genome.wustl.edu	37	chr16	27221434	27221434	+	5'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gcacgggactgaaccagctgGtggtggcccgatggctggag	18	10	0	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr16:27221434G>T	ENST00000286096.4	+	0	163				KDM8_ENST00000568965.1_5'Flank|KDM8_ENST00000380948.2_5'UTR|KDM8_ENST00000441782.2_Missense_Mutation_p.G35V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8						G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GAACCAGCTGGTGGTGGCCCG	0.622																																																	0													57	66	63					16																	27221434		2195	4294	6489	SO:0001623	5_prime_UTR_variant	79831			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.-11G>T	16.37:g.27221434G>T			B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G35V	ENST00000286096.4	37	c.104	CCDS10627.1	16	.	.	.	.	.	.	.	.	.	.	G	6.177	0.400919	0.11696	.	.	ENSG00000155666	ENST00000441782	T	0.26660	1.72	2.18	2.18	0.27775	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.23645	N	0.997217	P	0.49185	0.92	P	0.55391	0.775	T	0.06679	-1.0813	8	0.44086	T	0.13	.	7.9256	0.29872	0.0:0.0:1.0:0.0	.	35	Q8N371-3	.	V	35	ENSP00000398410:G35V	ENSP00000398410:G35V	G	+	2	0	JMJD5	27128935	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.633000	0.24598	1.571000	0.49722	0.561000	0.74099	GGT	KDM8	-	NULL		0.622	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	G	NM_024773		27221434	1	no_errors	ENST00000441782	ensembl	human	known	70_37	missense	SNP	0.001	T	T	27221434	G	T	27221434	1	4	82	0	1	0	0	0	0	0	0	0	7972	1261	44	4		4	JMJD5	16	27221434	5'UTR	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	4141621	27221434	63133319	37	12595										
MAP1LC3B	81631	genome.wustl.edu	37	chr16	87436639	87436640	+	Frame_Shift_Ins	INS	-	-	AG													0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tatgagagtgagaaagatgaINSagatggattcctgtacatgg							TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr16:87436639_87436640insAG	ENST00000268607.5	+	4	942_943	c.314_315insAG	c.(313-318)gaagatfs	p.D106fs	MAP1LC3B_ENST00000534986.1_Frame_Shift_Ins_p.D47fs|RP11-178L8.3_ENST00000569147.1_RNA	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	106					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		GAGAAAGATGAAGATGGATTCC	0.45																																																	0																																										SO:0001589	frameshift_variant	81631			AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	ENST00000268607.5:c.315_316dupAG	16.37:g.87436640_87436641dupAG	ENSP00000268607:p.Asp106fs		Q6NW02	Frame_Shift_Ins	INS	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.D106fs	ENST00000268607.5	37	c.314_315	CCDS10960.1	16																																																																																			MAP1LC3B	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.45	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3B	HGNC	protein_coding	OTTHUMT00000269106.1	-			87436640	1	no_errors	ENST00000268607	ensembl	human	known	70_37	frame_shift_ins	INS	0.996:0.674	AG	AG	87436640	-	AG	87436639	7	5	82	1	0	1	1	0	0	0	0	0	9254	246	9	0	328	0	MAP1LC3B	16	87436639	Frame_Shift_Ins	INS	-	TCGA-EA-A44S-01A-12D-A26G-09	60215205	87436639	2918114	38	12596										
AMAC1L3	643664	genome.wustl.edu	37	chr17	7386113	7386113	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ttggtctccttcacatgtgtGagctatgcggtcaccaaggc	11	11	3	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:7386113G>A	ENST00000412468.2	+	2	925	c.810G>A	c.(808-810)gtG>gtA	p.V270V	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	270						integral component of membrane (GO:0016021)											TCACATGTGTGAGCTATGCGG	0.592																																																	0													135	111	119					17																	7386113		2203	4300	6503	SO:0001819	synonymous_variant	643664				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.810G>A	17.37:g.7386113G>A				Silent	SNP	pfam_DMT	p.V270	ENST00000412468.2	37	c.810	CCDS45603.1	17																																																																																			SLC35G6	-	pfam_DMT		0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G6	HGNC	protein_coding		G	NM_001102614		7386113	1	no_errors	ENST00000412468	ensembl	human	known	70_37	silent	SNP	0.996	A	A	7386113	G	A	7386113	2	1	82	1	0	0	0	0	0	0	0	1	561	1277	45	1		1	AMAC1L3	17	7386113	Silent	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		7386113	73809097	39	12597										
GRB7	2886	genome.wustl.edu	37	chr17	37899685	37899685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	aaatggtctccagctgtctcGatgcacacactggtatatcc	8	12	2	0	rs560775365		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:37899685G>A	ENST00000309156.4	+	6	882	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.D209N|GRB7_ENST00000394209.2_Missense_Mutation_p.D209N|GRB7_ENST00000394211.3_Missense_Mutation_p.D209N|GRB7_ENST00000445327.2_Missense_Mutation_p.D232N|GRB7_ENST00000394204.1_Missense_Mutation_p.D209N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	209					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.S206fs*16(1)|p.D209N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGCTGTCTCGATGCACACAC	0.557													G|||	1	0.000199681	0	0	5008	,	,		18825	0.001		0	False		,,,				2504	0																2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)											139	120	126					17																	37899685		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.625G>A	17.37:g.37899685G>A	ENSP00000310771:p.Asp209Asn		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.D232N	ENST00000309156.4	37	c.694	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310830	0.60414	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.56776	0.44;1.58;1.58;1.58;1.57;0.44	5.84	5.84	0.93424	.	0.147568	0.64402	D	0.000015	T	0.55641	0.1933	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.59767	0.986;0.835	P;B	0.50270	0.636;0.361	T	0.57254	-0.7843	10	0.62326	D	0.03	-11.8699	17.0446	0.86499	0.0:0.0:1.0:0.0	.	209;209	Q14451-2;Q14451	.;GRB7_HUMAN	N	209;209;209;209;232;209	ENSP00000311752:D209N;ENSP00000310771:D209N;ENSP00000377761:D209N;ENSP00000377759:D209N;ENSP00000403459:D232N;ENSP00000377754:D209N	ENSP00000310771:D209N	D	+	1	0	GRB7	35153211	1.000000	0.71417	0.124000	0.21820	0.305000	0.27757	7.743000	0.85020	2.768000	0.95171	0.561000	0.74099	GAT	GRB7	-	NULL		0.557	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	G	NM_005310		37899685	1	no_errors	ENST00000445327	ensembl	human	known	70_37	missense	SNP	0.960	A	A	37899685	G	A	37899685	3	1	82	1	0	0	0	0	1	0	0	0	6779	1058	37	1	643	1	GRB7	17	37899685	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	30513572	37899685	43295525	40	12598										
GRB7	2886	genome.wustl.edu	37	chr17	37901738	37901738	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gccatgctgggcgtgtcattGagaacccccgggaggctctg	15	12	2	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:37901738G>A	ENST00000309156.4	+	11	1413	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	GRB7_ENST00000309185.3_Missense_Mutation_p.E386K|GRB7_ENST00000394209.2_Missense_Mutation_p.E386K|GRB7_ENST00000394211.3_Missense_Mutation_p.E386K|GRB7_ENST00000445327.2_Missense_Mutation_p.E409K|GRB7_ENST00000394204.1_Missense_Mutation_p.E386K	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	386					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGTGTCATTGAGAACCCCCG	0.607																																																	0													65	67	66					17																	37901738		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1156G>A	17.37:g.37901738G>A	ENSP00000310771:p.Glu386Lys		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E409K	ENST00000309156.4	37	c.1225	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580731	0.46006	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.59906	0.23;1.53;1.53;1.53;1.52;0.23	5.97	5.0	0.66597	BPS (Between PH and SH2) domain (1);	0.151450	0.64402	D	0.000012	T	0.55194	0.1905	L	0.52126	1.63	0.44085	D	0.996844	B;P	0.34662	0.211;0.462	B;B	0.39590	0.027;0.304	T	0.54057	-0.8350	10	0.39692	T	0.17	-23.7388	13.5517	0.61736	0.0756:0.0:0.9244:0.0	.	386;386	Q14451-2;Q14451	.;GRB7_HUMAN	K	386;386;386;386;409;386	ENSP00000311752:E386K;ENSP00000310771:E386K;ENSP00000377761:E386K;ENSP00000377759:E386K;ENSP00000403459:E409K;ENSP00000377754:E386K	ENSP00000310771:E386K	E	+	1	0	GRB7	35155264	1.000000	0.71417	0.974000	0.42286	0.007000	0.05969	3.361000	0.52306	2.837000	0.97791	0.655000	0.94253	GAG	GRB7	-	pfam_BPS-dom		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	G	NM_005310		37901738	1	no_errors	ENST00000445327	ensembl	human	known	70_37	missense	SNP	0.996	A	A	37901738	G	A	37901738	3	1	82	1	0	0	0	0	1	0	0	0	6779	1291	45	1	1194	1	GRB7	17	37901738	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	2053	37901738	43293472	41	12599										
STXBP4	252983	genome.wustl.edu	37	chr17	53111588	53111588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	tggatgaagtaaatgttggtGcacatgaaatttccaatata	9	4	0	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:53111588G>A	ENST00000376352.2	+	10	1030	c.823G>A	c.(823-825)Gca>Aca	p.A275T	STXBP4_ENST00000299341.4_Missense_Mutation_p.A200T|STXBP4_ENST00000434978.2_Missense_Mutation_p.A275T|STXBP4_ENST00000398391.2_Missense_Mutation_p.A200T|STXBP4_ENST00000405898.1_Missense_Mutation_p.A275T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	275					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATGTTGGTGCACATGAAAT	0.338																																																	0													184	181	182					17																	53111588		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.823G>A	17.37:g.53111588G>A	ENSP00000365530:p.Ala275Thr		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A275T	ENST00000376352.2	37	c.823	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473400	0.26423	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.61	2.16	0.27623	.	0.914079	0.09508	N	0.792665	T	0.38108	0.1028	M	0.65975	2.015	0.09310	N	1	B;B;B	0.21147	0.002;0.052;0.001	B;B;B	0.19148	0.003;0.024;0.002	T	0.34850	-0.9812	10	0.19147	T	0.46	-0.6289	7.1321	0.25507	0.3263:0.0:0.6737:0.0	.	275;200;275	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	T	275;200;275;275;200	ENSP00000365530:A275T;ENSP00000299341:A200T;ENSP00000385944:A275T;ENSP00000391087:A275T;ENSP00000381427:A200T	ENSP00000299341:A200T	A	+	1	0	STXBP4	50466587	0.185000	0.23213	0.144000	0.22314	0.949000	0.60115	1.948000	0.40303	0.169000	0.19679	0.561000	0.74099	GCA	STXBP4	-	NULL		0.338	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53111588	1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	0.228	A	A	53111588	G	A	53111588	3	1	82	1	0	0	0	0	1	0	0	0	15385	1319	46	4	853	4	STXBP4	17	53111588	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	15209850	53111588	28083622	42	12600										
APPBP2	10513	genome.wustl.edu	37	chr17	58524959	58524959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ccctcagcagctcggtccctCgacattctgagaaatcagga	9	14	3	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:58524959C>T	ENST00000083182.3	-	13	2028	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	581					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CTCGGTCCCTCGACATTCTGA	0.488																																																	0													115	116	115					17																	58524959		2203	4300	6503	SO:0001583	missense	10513			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1741G>A	17.37:g.58524959C>T	ENSP00000083182:p.Glu581Lys		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E581K	ENST00000083182.3	37	c.1741	CCDS32699.1	17	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745655	0.49151	.	.	ENSG00000062725	ENST00000083182	D	0.83837	-1.77	5.78	4.81	0.61882	.	0.219310	0.39687	N	0.001283	T	0.65811	0.2727	N	0.08118	0	0.42790	D	0.993895	B	0.27068	0.167	B	0.17433	0.018	T	0.63576	-0.6606	10	0.22109	T	0.4	-12.0999	14.254	0.66038	0.0:0.9292:0.0:0.0708	.	581	Q92624	APBP2_HUMAN	K	581	ENSP00000083182:E581K	ENSP00000083182:E581K	E	-	1	0	APPBP2	55879741	0.995000	0.38212	0.971000	0.41717	0.943000	0.58893	3.340000	0.52143	2.730000	0.93505	0.655000	0.94253	GAG	APPBP2	-	NULL		0.488	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	C	NM_006380		58524959	-1	no_errors	ENST00000083182	ensembl	human	known	70_37	missense	SNP	0.993	T	T	58524959	C	T	58524959	3	4	82	1	0	0	0	0	1	0	0	0	816	893	31	1	20	1	APPBP2	17	58524959	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	5413371	58524959	22670251	43	12601										
RPS28	6234	genome.wustl.edu	37	chr19	8386420	8386420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	cgccgcgccgccatcatggaCaccagccgtgtgcagcctat	11	17	1	0	rs534143211		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:8386420C>T	ENST00000600659.2	+	1	37	c.6C>T	c.(4-6)gaC>gaT	p.D2D	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	2					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										CCATCATGGACACCAGCCGTG	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		11901	0		0	False		,,,				2504	0																0													5	6	6					19																	8386420		1921	4005	5926	SO:0001819	synonymous_variant	6234			D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"S ribosomal proteins"	10418	protein-coding gene	gene with protein product	"40S ribosomal protein S28"	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.6C>T	19.37:g.8386420C>T			P25112	Silent	SNP	pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like	p.D2	ENST00000600659.2	37	c.6	CCDS45953.1	19																																																																																			RPS28	-	pfam_Ribosomal_S28e		0.657	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS28	HGNC	protein_coding	OTTHUMT00000461377.3	C	NM_001031		8386420	1	no_errors	ENST00000600659	ensembl	human	known	70_37	silent	SNP	0.941	T	T	8386420	C	T	8386420	2	4	82	1	0	0	0	0	0	0	0	1	13671	477	17	4		4	RPS28	19	8386420	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09		8386420	50742563	44	12602										
SMARCA4	6597	genome.wustl.edu	37	chr19	11123682	11123682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	acaacctgaacggcatcctgGccgacgagatgggcctgggg	15	12	0	2			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:11123682G>C	ENST00000429416.3	+	17	2613	c.2332G>C	c.(2332-2334)Gcc>Ccc	p.A778P	SMARCA4_ENST00000450717.3_Missense_Mutation_p.A778P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A778P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A778P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A778P|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A778P|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A778P|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A778P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A778P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	778	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGCATCCTGGCCGACGAGAT	0.587			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											156	107	123					19																	11123682		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2332G>C	19.37:g.11123682G>C	ENSP00000395654:p.Ala778Pro		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.A778P	ENST00000429416.3	37	c.2332	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947710	0.92593	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99682	4.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98997	1.0810	10	0.87932	D	0	-24.9649	16.6409	0.85098	0.0:0.0:1.0:0.0	.	778;778;778;778;778;778;778	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	P	778;778;842;778;778;778;778;778	ENSP00000395654:A778P;ENSP00000350720:A778P;ENSP00000343896:A778P;ENSP00000445036:A778P;ENSP00000392837:A778P;ENSP00000397783:A778P;ENSP00000414727:A778P	ENSP00000343896:A778P	A	+	1	0	SMARCA4	10984682	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	GCC	SMARCA4	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11123682	1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11123682	G	C	11123682	3	2	82	1	0	0	0	0	1	0	0	0	14800	1203	42	4	2390	4	SMARCA4	19	11123682	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	2737262	11123682	48005301	45	12603										
FAM83E	54854	genome.wustl.edu	37	chr19	49114031	49114031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	gcaggtagacaggtacccagCggcgcgtggcagcatccacc	14	14	0	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:49114031C>T	ENST00000263266.3	-	2	728	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	180										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGGTACCCAGCGGCGCGTGGC	0.662																																																	0													14	18	17					19																	49114031		2098	4229	6327	SO:0001583	missense	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.539G>A	19.37:g.49114031C>T	ENSP00000263266:p.Arg180His		Q9NXK1	Missense_Mutation	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R180H	ENST00000263266.3	37	c.539	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897828	0.72639	.	.	ENSG00000105523	ENST00000263266	T	0.20881	2.04	4.84	2.7	0.31948	.	0.149012	0.44688	N	0.000437	T	0.19805	0.0476	M	0.64630	1.985	0.35207	D	0.774839	P	0.43024	0.798	B	0.36608	0.229	T	0.31223	-0.9951	10	0.87932	D	0	-13.6025	9.4339	0.38626	0.0:0.8217:0.0:0.1783	.	180	Q2M2I3	FA83E_HUMAN	H	180	ENSP00000263266:R180H	ENSP00000263266:R180H	R	-	2	0	FAM83E	53805843	0.993000	0.37304	1.000000	0.80357	0.673000	0.39480	3.095000	0.50235	0.596000	0.29794	0.462000	0.41574	CGC	FAM83E	-	pfam_DUF1669		0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	C	NM_017708		49114031	-1	no_errors	ENST00000263266	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49114031	C	T	49114031	3	4	82	1	0	0	0	0	1	0	0	0	5655	768	27	2	913	2	FAM83E	19	49114031	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	37990349	49114031	10014952	46	12604										
FERMT1	55612	genome.wustl.edu	37	chr20	6060088	6060088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	aaactttcactttacctgccGggtttcccagtttacattcc	5	13	1	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr20:6060088G>A	ENST00000217289.4	-	14	2643	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.R362W	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	619	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTACCTGCCGGGTTTCCCAG	0.383																																																	0													163	156	158					20																	6060088		2203	4300	6503	SO:0001583	missense	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1855C>T	20.37:g.6060088G>A	ENSP00000217289:p.Arg619Trp		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R619W	ENST00000217289.4	37	c.1855	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731606	0.69189	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.30182	1.54;1.54	5.45	3.33	0.38152	Pleckstrin homology-type (1);	0.052315	0.85682	D	0.000000	T	0.52613	0.1745	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.58222	-0.7674	10	0.87932	D	0	-17.4343	11.3616	0.49646	0.0:0.1292:0.718:0.1528	.	619	Q9BQL6	FERM1_HUMAN	W	619;362	ENSP00000217289:R619W;ENSP00000441063:R362W	ENSP00000217289:R619W	R	-	1	2	FERMT1	6008088	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.447000	0.52936	1.233000	0.43693	0.561000	0.74099	CGG	FERMT1	-	NULL		0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	G	NM_017671		6060088	-1	no_errors	ENST00000217289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6060088	G	A	6060088	3	1	82	1	0	0	0	0	1	0	0	0	5835	1115	39	2	186	2	FERMT1	20	6060088	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09		6060088	56965432	47	12605										
SAT1	6303	genome.wustl.edu	37	chrX	23803877	23803878	+	Frame_Shift_Ins	INS	-	-	A													0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	aaccatccatcaacttctatINSaaaagaagaggtgcttctga							TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:23803877_23803878insA	ENST00000379270.4	+	6	599_600	c.420_421insA	c.(421-423)aaafs	p.K141fs	RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Frame_Shift_Ins_p.K113fs|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						TCAACTTCTATAAAAGAAGAGG	0.446																																																	0																																										SO:0001589	frameshift_variant	6303			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 1"	313020	"spermidine/spermine N1-acetyltransferase"	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.424dupA	X.37:g.23803881_23803881dupA	ENSP00000368572:p.Lys141fs		A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Ins	INS	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.R141fs	ENST00000379270.4	37	c.420_421	CCDS14207.1	X																																																																																			SAT1	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.446	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAT1	HGNC	protein_coding	OTTHUMT00000056056.1	-	NM_002970		23803878	1	no_errors	ENST00000379270	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	23803878	-	A	23803877	7	5	82	1	0	1	1	0	0	0	0	0	13881	1413	49	0	442	0	SAT1	23	23803877	Frame_Shift_Ins	INS	-	TCGA-EA-A44S-01A-12D-A26G-09		23803877	131466683	48	12606										
CACNA1F	778	genome.wustl.edu	37	chrX	49072951	49072951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ccgctcccggaccaggggccGtgacacgtctccatctgggt	13	16	2	1			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:49072951G>A	ENST00000376265.2	-	27	3221	c.3160C>T	c.(3160-3162)Cgg>Tgg	p.R1054W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1043W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R989W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1054					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAGGGGCCGTGACACGTCT	0.562																																																	0													59	46	50					X																	49072951		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3160C>T	X.37:g.49072951G>A	ENSP00000365441:p.Arg1054Trp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1054W	ENST00000376265.2	37	c.3160	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	17.82	3.482977	0.63962	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.89;-3.88	4.76	2.88	0.33553	Ion transport (1);	0.000000	0.29119	N	0.013082	D	0.96546	0.8873	L	0.44542	1.39	0.35152	D	0.76985	D;D	0.76494	0.998;0.999	P;D	0.78314	0.804;0.991	D	0.97184	0.9853	10	0.72032	D	0.01	.	11.5313	0.50612	0.0:0.0:0.6637:0.3363	.	1043;1054	F5CIQ9;O60840	.;CAC1F_HUMAN	W	989;1043;1054	ENSP00000365427:R989W;ENSP00000321618:R1043W;ENSP00000365441:R1054W	ENSP00000321618:R1043W	R	-	1	2	CACNA1F	48959895	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.638000	0.61353	0.225000	0.20959	0.513000	0.50165	CGG	CACNA1F	-	pfam_Ion_trans_dom		0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49072951	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	0.998	A	A	49072951	G	A	49072951	3	1	82	1	0	0	0	0	1	0	0	0	2548	1144	40	2	2861	2	CACNA1F	23	49072951	Missense_Mutation	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	25269074	49072951	106197609	49	12607										
FGD1	2245	genome.wustl.edu	37	chrX	54472598	54472598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ttcagcagtggctcctaaagCagccaccggtgcctcctcca	9	16	1	0			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:54472598C>T	ENST00000375135.3	-	18	3563	c.2830G>A	c.(2830-2832)Gct>Act	p.A944T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	944					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTCCTAAAGCAGCCACCGGT	0.652																																																	0													21	19	19					X																	54472598		2202	4297	6499	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2830G>A	X.37:g.54472598C>T	ENSP00000364277:p.Ala944Thr		Q5H999|Q8N4D9	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A944T	ENST00000375135.3	37	c.2830	CCDS14359.1	X	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072247	0.36566	.	.	ENSG00000102302	ENST00000375135	T	0.66280	-0.2	4.97	3.19	0.36642	.	0.281738	0.25777	N	0.028375	T	0.36331	0.0963	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.72032	D	0.01	0.0076	4.1281	0.10136	0.0:0.5389:0.1704:0.2906	.	944	P98174	FGD1_HUMAN	T	944	ENSP00000364277:A944T	ENSP00000364277:A944T	A	-	1	0	FGD1	54489323	0.966000	0.33281	0.158000	0.22627	0.891000	0.51852	0.782000	0.26788	0.589000	0.29677	0.513000	0.50165	GCT	FGD1	-	NULL		0.652	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	C	NM_004463		54472598	-1	no_errors	ENST00000375135	ensembl	human	known	70_37	missense	SNP	0.001	T	T	54472598	C	T	54472598	3	4	82	1	0	0	0	0	1	0	0	0	5850	710	25	4	59	4	FGD1	23	54472598	Missense_Mutation	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	5399647	54472598	100797962	50	12608										
VSIG4	11326	genome.wustl.edu	37	chrX	65253527	65253527	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	ccagaagagtcacgtagaaaGatggtgacagggtctgagcc	14	8	2	6			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:65253527G>T	ENST00000374737.4	-	2	309	c.201C>A	c.(199-201)atC>atA	p.I67I	VSIG4_ENST00000412866.2_Silent_p.I67I|VSIG4_ENST00000455586.2_Silent_p.I67I	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	67	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGTAGAAAGATGGTGACAG	0.537																																																	0													122	89	100					X																	65253527		2203	4300	6503	SO:0001819	synonymous_variant	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.201C>A	X.37:g.65253527G>T			Q6UXI4	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.I67	ENST00000374737.4	37	c.201	CCDS14383.1	X																																																																																			VSIG4	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.537	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	G	NM_007268		65253527	-1	no_errors	ENST00000374737	ensembl	human	known	70_37	silent	SNP	0.988	T	T	65253527	G	T	65253527	2	4	82	1	0	0	0	0	0	0	0	1	17256	932	33	3		3	VSIG4	23	65253527	Silent	SNP	G	TCGA-EA-A44S-01A-12D-A26G-09	10780929	65253527	90017033	51	12609										
IL13RA1	3597	genome.wustl.edu	37	chrX	117900860	117900860	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.365384615384615	19	1.5539643268051e-05	2.89844789356984	3.75272727272727	2.77979797979798	0.00012690566964964	0.00117236666247763	12	cctgatactttgaacacagtCagaataagagtcaaaacaaa	6	8	2	4			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:117900860C>T	ENST00000371666.3	+	8	997	c.930C>T	c.(928-930)gtC>gtT	p.V310V	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371637.3_5'Flank	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	310	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGAACACAGTCAGAATAAGAG	0.328																																																	0													70	64	66					X																	117900860		2203	4295	6498	SO:0001819	synonymous_variant	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.930C>T	X.37:g.117900860C>T			O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.V310	ENST00000371666.3	37	c.930	CCDS14573.1	X																																																																																			IL13RA1	-	superfamily_Fibronectin_type3		0.328	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	C	NM_001560		117900860	1	no_errors	ENST00000371666	ensembl	human	known	70_37	silent	SNP	0.997	T	T	117900860	C	T	117900860	2	4	82	1	0	0	0	0	0	0	0	1	7649	813	29	1		1	IL13RA1	23	117900860	Silent	SNP	C	TCGA-EA-A44S-01A-12D-A26G-09	52647333	117900860	37369700	52	12610										
ARID1A	8289	genome.wustl.edu	37	chr1	27057742	27057742	+	Frame_Shift_Del	DEL	C	C	-													0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	accctcagcagcagcagccaCcctactcccagcaaccaccg							TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:27057742delC	ENST00000324856.7	+	3	1821	c.1450delC	c.(1450-1452)cccfs	p.P484fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P484fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P101fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	484					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAGCCACCCTACTCCCA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													335	311	319					1																	27057742		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1450delC	1.37:g.27057742delC	ENSP00000320485:p.Pro484fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y485fs	ENST00000324856.7	37	c.1450	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057742	1	no_errors	ENST00000324856	ensembl	human	known	70_37	frame_shift_del	DEL	0.694	-	-	27057742	C	-	27057742	7	5	83	1	0	1	0	1	0	0	0	0	913	507	18	0	1460	0	ARID1A	1	27057742	Frame_Shift_Del	DEL	C	TCGA-EA-A4BA-01A-21D-A26G-09		27057742	222192879	1	12611										
ARID1A	8289	genome.wustl.edu	37	chr1	27057820	27057820	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	agccacagtctcaaccaccaCagctccagtcctctcagcct	5	19	2	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:27057820C>T	ENST00000324856.7	+	3	1899	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q510*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q127*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	510					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAACCACCACAGCTCCAGTC	0.622			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													337	306	317					1																	27057820		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1528C>T	1.37:g.27057820C>T	ENSP00000320485:p.Gln510*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q510*	ENST00000324856.7	37	c.1528	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123215	0.77436	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.33	5.33	0.75918	.	0.317981	0.34314	N	0.004069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-6.5036	19.2116	0.93757	0.0:1.0:0.0:0.0	.	.	.	.	X	510;510;127	.	ENSP00000320485:Q510X	Q	+	1	0	ARID1A	26930407	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.245000	0.58734	2.766000	0.95052	0.655000	0.94253	CAG	ARID1A	-	NULL		0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057820	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27057820	C	T	27057820	4	4	83	1	0	0	0	0	0	1	0	0	913	479	17	4	1538	4	ARID1A	1	27057820	Nonsense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	78	27057820	222192801	2	12612										
PHC2	1912	genome.wustl.edu	37	chr1	33841026	33841026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	aatctggggcccggtggggcGgccacttccaccactgctgc	14	15	1	0	rs145654669		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:33841026G>A	ENST00000257118.5	-	1	168	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	PHC2_ENST00000419414.2_Missense_Mutation_p.R39C|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.R39C	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	39					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGTGGGgcggccacttcca	0.557																																																	0								G	CYS/ARG	0,4406		0,0,2203	43	45	45		115	5.4	1	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHC2	NM_198040.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	39/859	33841026	1,13005	2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.115C>T	1.37:g.33841026G>A	ENSP00000257118:p.Arg39Cys		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R39C	ENST00000257118.5	37	c.115	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768010	0.69878	0.0	1.16E-4	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.37235	1.6;1.21;1.63	5.39	5.39	0.77823	.	0.275476	0.34314	N	0.004064	T	0.59689	0.2212	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.975	D;D;B	0.85130	0.997;0.993;0.432	T	0.62124	-0.6920	10	0.72032	D	0.01	-3.1454	16.6495	0.85185	0.0:0.0:1.0:0.0	.	39;39;39	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	C	39	ENSP00000389436:R39C;ENSP00000257118:R39C;ENSP00000391440:R39C	ENSP00000257118:R39C	R	-	1	0	PHC2	33613613	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	5.527000	0.67123	2.517000	0.84864	0.462000	0.41574	CGC	PHC2	-	NULL		0.557	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33841026	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33841026	G	A	33841026	3	1	83	1	0	0	0	0	1	0	0	0	11841	1116	39	2	2517	2	PHC2	1	33841026	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	6783206	33841026	215409595	3	12613										
TTC22	55001	genome.wustl.edu	37	chr1	55266581	55266581	+	Frame_Shift_Del	DEL	G	G	-													0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cacctcgaggaagcactcgcGggcctcgtccagctcctcca							TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:55266581delG	ENST00000371276.4	-	1	359	c.256delC	c.(256-258)cgcfs	p.R86fs	TTC22_ENST00000371274.4_Frame_Shift_Del_p.R86fs	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	86										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AAGCACTCGCGGGCCTCGTCC	0.692																																																	0													12	14	13					1																	55266581		2191	4283	6474	SO:0001589	frameshift_variant	55001			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.256delC	1.37:g.55266581delG	ENSP00000360323:p.Arg86fs		Q9NWT4	Frame_Shift_Del	DEL	smart_TPR_repeat	p.R86fs	ENST00000371276.4	37	c.256	CCDS44152.1	1																																																																																			TTC22	-	smart_TPR_repeat		0.692	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	G	NM_017904		55266581	-1	no_errors	ENST00000371276	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	55266581	G	-	55266581	7	5	83	1	0	1	0	1	0	0	0	0	16720	1116	39	0	1584	0	TTC22	1	55266581	Frame_Shift_Del	DEL	G	TCGA-EA-A4BA-01A-21D-A26G-09	21425555	55266581	193984040	4	12614										
GIPC2	54810	genome.wustl.edu	37	chr1	78601340	78601340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gaatttgctgtggcacttgaCgaaactcttggagactttgc	11	8	1	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:78601340C>T	ENST00000370759.3	+	6	1054	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	287						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TGGCACTTGACGAAACTCTTG	0.378																																																	0													101	89	93					1																	78601340		2203	4300	6503	SO:0001819	synonymous_variant	54810			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.861C>T	1.37:g.78601340C>T			Q8IYD3|Q9NXS7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.D287	ENST00000370759.3	37	c.861	CCDS685.1	1																																																																																			GIPC2	-	pirsf_UCP038083_PDZ		0.378	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC2	HGNC	protein_coding	OTTHUMT00000098629.1	C	NM_017655		78601340	1	no_errors	ENST00000370759	ensembl	human	known	70_37	silent	SNP	0.139	T	T	78601340	C	T	78601340	2	4	83	1	0	0	0	0	0	0	0	1	6412	535	19	2		2	GIPC2	1	78601340	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	23334759	78601340	170649281	5	12615										
CD1E	913	genome.wustl.edu	37	chr1	158325832	158325832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	atgtggcggctggggaggcaGctggcctgtcctgtcgggtg	20	9	0	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:158325832G>T	ENST00000368167.3	+	4	1080	c.841G>T	c.(841-843)Gct>Tct	p.A281S	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.A279S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.A182S|CD1E_ENST00000368160.3_Missense_Mutation_p.A281S|CD1E_ENST00000452291.2_Missense_Mutation_p.A92S|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.A191S|CD1E_ENST00000368166.3_Missense_Mutation_p.A92S|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.A191S	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	281	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGGGAGGCAGCTGGCCTGTC	0.582																																																	0													72	74	74					1																	158325832		2203	4300	6503	SO:0001583	missense	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.841G>T	1.37:g.158325832G>T	ENSP00000357149:p.Ala281Ser		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.A281S	ENST00000368167.3	37	c.841	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963100	0.18583	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.13657	4.17;4.17;4.17;4.17;2.57;4.17;4.17;2.57	4.28	2.39	0.29439	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.321368	0.22845	N	0.054925	T	0.05547	0.0146	L	0.33293	1	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.31174	0.018;0.311;0.202;0.099;0.009;0.017;0.018;0.174;0.099;0.007;0.017	B;P;B;B;B;B;B;B;B;B;B	0.45119	0.26;0.47;0.284;0.153;0.284;0.144;0.08;0.17;0.242;0.156;0.108	T	0.42137	-0.9469	10	0.29301	T	0.29	-2.7839	6.3688	0.21469	0.2268:0.0:0.7732:0.0	.	92;182;279;281;182;191;92;281;281;92;191	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	S	279;182;281;92;191;92;281;191	ENSP00000401957:A279S;ENSP00000402906:A182S;ENSP00000357149:A281S;ENSP00000416228:A92S;ENSP00000357147:A191S;ENSP00000357148:A92S;ENSP00000357142:A281S;ENSP00000357138:A191S	ENSP00000357138:A191S	A	+	1	0	CD1E	156592456	0.000000	0.05858	0.093000	0.20910	0.470000	0.32858	-0.138000	0.10374	0.451000	0.26802	0.563000	0.77884	GCT	CD1E	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.582	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	G	NM_030893		158325832	1	no_errors	ENST00000368167	ensembl	human	known	70_37	missense	SNP	0.043	T	T	158325832	G	T	158325832	3	4	83	1	0	0	0	0	1	0	0	0	2983	971	34	4	855	4	CD1E	1	158325832	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	79724492	158325832	90924789	6	12616										
CENPF	1063	genome.wustl.edu	37	chr1	214794046	214794046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccatgaatcaccgcgacattGcccggcatcaggcttcatca	8	15	4	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:214794046G>T	ENST00000366955.3	+	6	790	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CCGCGACATTGCCCGGCATCA	0.433																																					Colon(80;575 1284 11000 14801 43496)												0													115	128	124					1																	214794046		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.622G>T	1.37:g.214794046G>T	ENSP00000355922:p.Ala208Ser		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.A208S	ENST00000366955.3	37	c.622	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.586928	0.96578	.	.	ENSG00000117724	ENST00000366955	T	0.31247	1.5	6.0	6.0	0.97389	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.37906	N	0.001892	T	0.60392	0.2265	.	.	.	0.54753	D	0.999983	D	0.71674	0.998	D	0.76071	0.987	T	0.59198	-0.7499	9	0.56958	D	0.05	.	20.4913	0.99204	0.0:0.0:1.0:0.0	.	208	P49454	CENPF_HUMAN	S	208	ENSP00000355922:A208S	ENSP00000355922:A208S	A	+	1	0	CENPF	212860669	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.183000	0.94887	2.846000	0.97976	0.603000	0.83216	GCC	CENPF	-	pfam_Centromere_CenpF_N		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214794046	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	214794046	G	T	214794046	3	4	83	1	0	0	0	0	1	0	0	0	3236	1319	46	4	640	4	CENPF	1	214794046	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	56468214	214794046	34456575	7	12617										
OBSCN	84033	genome.wustl.edu	37	chr1	228520902	228520902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccttttctgttctgccagccGggagcaggagggaacagagt	14	10	2	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:228520902G>A	ENST00000422127.1	+	58	15778	c.15734G>A	c.(15733-15735)cGg>cAg	p.R5245Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6202Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5245Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2879Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2364Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5245					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGCCAGCCGGGAGCAGGAG	0.662																																																	0													13	14	14					1																	228520902		1973	4158	6131	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15734G>A	1.37:g.228520902G>A	ENSP00000409493:p.Arg5245Gln		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R5245Q	ENST00000422127.1	37	c.15734	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357856	0.82243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.64618	0.27;-0.11;-0.09;0.35	5.29	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.45316	0.1336	L	0.27053	0.805	0.41322	D	0.987188	P;P	0.44281	0.74;0.831	B;B	0.33042	0.075;0.157	T	0.53394	-0.8445	10	0.59425	D	0.04	.	13.8277	0.63361	0.073:0.0:0.927:0.0	.	5245;5245	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	5245;5245;2879;2364	ENSP00000284548:R5245Q;ENSP00000409493:R5245Q;ENSP00000355668:R2879Q;ENSP00000355670:R2364Q	ENSP00000284548:R5245Q	R	+	2	0	OBSCN	226587525	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.348000	0.66004	1.462000	0.47948	0.561000	0.74099	CGG	OBSCN	-	NULL		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228520902	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228520902	G	A	228520902	3	1	83	1	0	0	0	0	1	0	0	0	10836	1116	39	2	15960	2	OBSCN	1	228520902	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	13726856	228520902	20729719	8	12618										
KIDINS220	57498	genome.wustl.edu	37	chr2	8918771	8918771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	aagccaatggcatcttacccGtctattgagggctgtcttgc	10	11	3	1	rs372110208		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:8918771G>A	ENST00000256707.3	-	20	2882	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R901W|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R859W|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R902W|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R901W	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	901	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.R901W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCTTACCCGTCTATTGAGG	0.363																																																	1	Substitution - Missense(1)	endometrium(1)						G	TRP/ARG	0,3772		0,0,1886	161	148	152		2701	5	1	2		152	1,8225		0,1,4112	no	missense	KIDINS220	NM_020738.2	101	0,1,5998	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	901/1772	8918771	1,11997	1886	4113	5999	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2701C>T	2.37:g.8918771G>A	ENSP00000256707:p.Arg901Trp		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R901W	ENST00000256707.3	37	c.2701	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672504	0.47781	0.0	1.22E-4	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.69561	0.71;-0.41;-0.38;-0.3;-0.38;-0.35;-0.33	5.86	4.96	0.65561	KAP P-loop (1);	0.104386	0.64402	D	0.000006	T	0.80879	0.4708	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.998;0.998	D;D;D;D	0.87578	0.998;0.927;0.91;0.946	T	0.83072	-0.0142	10	0.72032	D	0.01	.	13.7591	0.62954	0.0:0.0:0.7202:0.2798	.	902;902;859;901	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	W	648;585;901;901;859;901;902;902	ENSP00000420364:R648W;ENSP00000256707:R901W;ENSP00000411849:R901W;ENSP00000414923:R859W;ENSP00000418974:R901W;ENSP00000419964:R902W;ENSP00000319947:R902W	ENSP00000256707:R901W	R	-	1	2	KIDINS220	8836222	1.000000	0.71417	0.992000	0.48379	0.098000	0.18820	1.792000	0.38754	1.421000	0.47157	0.655000	0.94253	CGG	KIDINS220	-	pfam_KAP_NTPase		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8918771	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8918771	G	A	8918771	3	1	83	1	0	0	0	0	1	0	0	0	8291	1144	40	2	2658	2	KIDINS220	2	8918771	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		8918771	234280602	9	12619										
REG1B	5968	genome.wustl.edu	37	chr2	79313499	79313499	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ggctgcagactgacctttttTgggtcatggaggccaatcca	12	10	1	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:79313499T>G	ENST00000305089.3	-	4	395	c.315A>C	c.(313-315)ccA>ccC	p.P105P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	105	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGACCTTTTTTGGGTCATGGA	0.493																																																	0													97	87	91					2																	79313499		2203	4300	6503	SO:0001819	synonymous_variant	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.315A>C	2.37:g.79313499T>G				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P105	ENST00000305089.3	37	c.315	CCDS1963.1	2																																																																																			REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	T	NM_006507		79313499	-1	no_errors	ENST00000305089	ensembl	human	known	70_37	silent	SNP	0.001	G	G	79313499	T	G	79313499	2	3	83	1	0	0	0	0	0	0	0	1	13241	1799	63	5		5	REG1B	2	79313499	Silent	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09	70394728	79313499	163885874	10	12620										
NCKAP5	344148	genome.wustl.edu	37	chr2	133887640	133887640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	accgcttctcgctttgaagaCgtaagtgtctctcctcttcc	7	14	3	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:133887640C>T	ENST00000409261.1	-	6	624	c.251G>A	c.(250-252)cGt>cAt	p.R84H	NCKAP5_ENST00000405974.3_Missense_Mutation_p.R84H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R84H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R84H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	84								p.R84H(1)|p.R84P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTTTGAAGACGTAAGTGTCT	0.438																																																	2	Substitution - Missense(2)	lung(1)|breast(1)											93	87	89					2																	133887640		1927	4137	6064	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.251G>A	2.37:g.133887640C>T	ENSP00000387128:p.Arg84His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.R84H	ENST00000409261.1	37	c.251	CCDS46418.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.856567|4.856567	0.91355|0.91355	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.68765|.	1.6;-0.35;1.6;-0.35|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	.|.	.|.	.|.	.|.	T|T	0.36744|0.36744	0.0978|0.0978	L|L	0.27053|0.27053	0.805|0.805	0.28610|0.28610	N|N	0.90871|0.90871	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.71414|.	0.934;0.919;0.942;0.973|.	T|T	0.27400|0.27400	-1.0075|-1.0075	9|5	0.87932|.	D|.	0|.	.|.	12.9159|12.9159	0.58205|0.58205	0.1623:0.8377:0.0:0.0|0.1623:0.8377:0.0:0.0	.|.	84;59;84;84|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	H|I	84;84;84;84;84;59|80	ENSP00000387128:R84H;ENSP00000386952:R84H;ENSP00000380603:R84H;ENSP00000385692:R84H|.	ENSP00000380603:R84H|.	R|V	-|-	2|1	0|0	NCKAP5|NCKAP5	133604110|133604110	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	6.261000|6.261000	0.72509|0.72509	1.601000|1.601000	0.50113|0.50113	0.655000|0.655000	0.94253|0.94253	CGT|GTC	NCKAP5	-	NULL		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133887640	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133887640	C	T	133887640	3	4	83	1	0	0	0	0	1	0	0	0	10247	536	19	2	5538	2	NCKAP5	2	133887640	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	54574141	133887640	109311733	11	12621										
KIF5C	3800	genome.wustl.edu	37	chr2	149866723	149866723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ctgcgtgccacggcggagcgCgtcaaggctctggagagcgc	17	13	2	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:149866723C>T	ENST00000435030.1	+	24	2993	c.2625C>T	c.(2623-2625)cgC>cgT	p.R875R	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.R780R|KIF5C_ENST00000397413.1_Silent_p.R643R			O60282	KIF5C_HUMAN	kinesin family member 5C	875	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CGGCGGAGCGCGTCAAGGCTC	0.647																																																	0													16	21	19					2																	149866723		2156	4238	6394	SO:0001819	synonymous_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2625C>T	2.37:g.149866723C>T			O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R875	ENST00000435030.1	37	c.2625		2																																																																																			KIF5C	-	NULL		0.647	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	C	NM_004522		149866723	1	no_errors	ENST00000435030	ensembl	human	known	70_37	silent	SNP	0.117	T	T	149866723	C	T	149866723	2	4	83	1	0	0	0	0	0	0	0	1	8327	755	27	2		2	KIF5C	2	149866723	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	15979083	149866723	93332650	12	12622										
PDE6D	5147	genome.wustl.edu	37	chr2	232597737	232597737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	aactttgtttctatgataacGttcccactgtaagtaagaag	7	7	1	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:232597737G>A	ENST00000287600.4	-	5	572	c.378C>T	c.(376-378)aaC>aaT	p.N126N	PDE6D_ENST00000409772.1_Missense_Mutation_p.T91M	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	126					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		CTATGATAACGTTCCCACTGT	0.388																																																	0													91	97	95					2																	232597737		2203	4300	6503	SO:0001819	synonymous_variant	5147			AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"Phosphodiesterases"	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.378C>T	2.37:g.232597737G>A			O43250	Missense_Mutation	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set	p.T91M	ENST00000287600.4	37	c.272	CCDS33398.1	2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503812	0.64410	.	.	ENSG00000156973	ENST00000409772	.	.	.	5.28	-2.75	0.05914	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.24271	N	0.99524	.	.	.	.	.	.	T	0.47420	-0.9119	5	0.34782	T	0.22	-10.2232	13.4134	0.60956	0.477:0.0:0.523:0.0	.	.	.	.	M	91	.	ENSP00000387108:T91M	T	-	2	0	PDE6D	232305981	0.542000	0.26426	0.989000	0.46669	0.997000	0.91878	-0.139000	0.10358	-0.365000	0.08076	0.563000	0.77884	ACG	PDE6D	-	NULL		0.388	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6D	HGNC	protein_coding	OTTHUMT00000332407.1	G			232597737	-1	no_errors	ENST00000409772	ensembl	human	putative	70_37	missense	SNP	0.909	A	A	232597737	G	A	232597737	2	1	83	1	0	0	0	0	0	0	0	1	11672	1136	40	2		2	PDE6D	2	232597737	Silent	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	82731014	232597737	10601636	13	12623										
THAP4	51078	genome.wustl.edu	37	chr2	242572605	242572605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gttgatggacatggggctggCgtcgctgtgctcgctctgca	16	10	1	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:242572605C>T	ENST00000407315.1	-	2	1398	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	323							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGGGCTGGCGTCGCTGTGC	0.642																																																	0													69	74	72					2																	242572605		2203	4296	6499	SO:0001583	missense	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.967G>A	2.37:g.242572605C>T	ENSP00000385006:p.Ala323Thr		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A323T	ENST00000407315.1	37	c.967	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705446	0.68615	.	.	ENSG00000176946	ENST00000407315	D	0.96856	-4.15	5.49	4.61	0.57282	.	0.435532	0.19750	N	0.106933	D	0.93426	0.7903	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.44394	0.448	D	0.92965	0.6392	10	0.54805	T	0.06	-35.1237	12.9925	0.58627	0.0:0.925:0.0:0.075	.	323	Q8WY91	THAP4_HUMAN	T	323	ENSP00000385006:A323T	ENSP00000385006:A323T	A	-	1	0	THAP4	242221278	1.000000	0.71417	0.918000	0.36340	0.396000	0.30629	2.922000	0.48860	1.476000	0.48215	0.650000	0.86243	GCC	THAP4	-	NULL		0.642	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	C	NM_015963		242572605	-1	no_errors	ENST00000407315	ensembl	human	known	70_37	missense	SNP	0.996	T	T	242572605	C	T	242572605	3	4	83	1	0	0	0	0	1	0	0	0	15876	768	27	2	794	2	THAP4	2	242572605	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	9974868	242572605	626768	14	12624										
KBTBD8	84541	genome.wustl.edu	37	chr3	67058535	67058535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tgagctaaataaatggactcGtaagaaagactttccatgtg	9	6	0	3	rs202223775		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr3:67058535G>T	ENST00000417314.2	+	4	1581	c.1532G>T	c.(1531-1533)cGt>cTt	p.R511L	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R485L|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R69L			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	511						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAATGGACTCGTAAGAAAGAC	0.368																																																	0													133	128	129					3																	67058535		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1532G>T	3.37:g.67058535G>T	ENSP00000401878:p.Arg511Leu		B4DTW6|Q96JI5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R511L	ENST00000417314.2	37	c.1532	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833468	0.16820	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78816	-1.21;-1.21;-1.21	5.57	5.57	0.84162	Kelch-type beta propeller (1);	0.157716	0.64402	D	0.000019	T	0.67496	0.2899	L	0.39898	1.24	0.58432	D	0.999998	B;B	0.32573	0.192;0.376	B;B	0.33196	0.159;0.109	T	0.63014	-0.6731	10	0.08381	T	0.77	.	13.7966	0.63175	0.0732:0.0:0.9268:0.0	.	69;511	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	L	485;69;511	ENSP00000295568:R485L;ENSP00000419738:R69L;ENSP00000401878:R511L	ENSP00000295568:R485L	R	+	2	0	KBTBD8	67141225	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	7.619000	0.83057	2.629000	0.89072	0.650000	0.86243	CGT	KBTBD8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.368	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	G	NM_032505		67058535	1	no_errors	ENST00000417314	ensembl	human	known	70_37	missense	SNP	0.998	T	T	67058535	G	T	67058535	3	4	83	1	0	0	0	0	1	0	0	0	8019	1145	40	2	1546	2	KBTBD8	3	67058535	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		67058535	130963895	15	12625										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	9	8	1	4			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	15	Substitution - Missense(13)|Deletion - In frame(2)	endometrium(8)|breast(2)|ovary(2)|large_intestine(1)|urinary_tract(1)|lung(1)											83	79	80					3																	178916944		1819	4069	5888	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331A>G	3.37:g.178916944A>G	ENSP00000263967:p.Lys111Glu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111E	ENST00000263967.3	37	c.331	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522008	0.85600	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76448	0.86;-1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.87742	0.2586	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	E	111	ENSP00000263967:K111E;ENSP00000417479:K111E	.	K	+	1	0	PIK3CA	180399638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.089000	0.63090	0.454000	0.30748	AAG	PIK3CA	-	NULL		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178916944	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178916944	A	G	178916944	3	3	83	1	0	0	0	0	1	0	0	0	11937	15	1	5	333	5	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-EA-A4BA-01A-21D-A26G-09	111858409	178916944	19105486	16	12626										
ANK2	287	genome.wustl.edu	37	chr4	114290917	114290917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tggagtctgccgataaccagCctgagacctgtgaaagactc	11	11	1	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr4:114290917C>A	ENST00000357077.4	+	43	11619	c.11566C>A	c.(11566-11568)Cct>Act	p.P3856T	ANK2_ENST00000506722.1_Missense_Mutation_p.P1762T|ANK2_ENST00000510275.2_Missense_Mutation_p.P423T|ANK2_ENST00000509550.1_Missense_Mutation_p.P947T|ANK2_ENST00000264366.6_Missense_Mutation_p.P3823T|ANK2_ENST00000394537.3_Missense_Mutation_p.P1771T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3856					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGATAACCAGCCTGAGACCTG	0.498																																																	0													90	82	85					4																	114290917		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11566C>A	4.37:g.114290917C>A	ENSP00000349588:p.Pro3856Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P3856T	ENST00000357077.4	37	c.11566	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.369|7.369	0.626360|0.626360	0.14257|0.14257	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96104	.|-0.21;-0.19;-0.27;-0.28;-0.97;-1.99;-3.91	5.63|5.63	1.91|1.91	0.25777|0.25777	.|.	.|0.355038	.|0.23926	.|N	.|0.043200	D|D	0.92596|0.92596	0.7648|0.7648	M|M	0.65975|0.65975	2.015|2.015	0.25793|0.25793	N|N	0.984597|0.984597	.|B;B;B;B;B;B	.|0.26845	.|0.02;0.161;0.012;0.034;0.128;0.008	.|B;B;B;B;B;B	.|0.30495	.|0.01;0.116;0.014;0.04;0.068;0.029	D|D	0.85094|0.85094	0.0953|0.0953	5|10	.|0.44086	.|T	.|0.13	.|.	4.4743|4.4743	0.11727|0.11727	0.1095:0.6002:0.106:0.1843|0.1095:0.6002:0.106:0.1843	.|.	.|947;806;772;1771;3856;1762	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	D|T	772|1762;806;1771;3856;3823;1762;947;423;866	.|ENSP00000421067:P1762T;ENSP00000378044:P1771T;ENSP00000349588:P3856T;ENSP00000264366:P3823T;ENSP00000426944:P947T;ENSP00000421023:P423T;ENSP00000422498:P866T	.|ENSP00000264366:P3823T	A|P	+|+	2|1	0|0	ANK2|ANK2	114510366|114510366	0.811000|0.811000	0.29063|0.29063	0.540000|0.540000	0.28089|0.28089	0.053000|0.053000	0.15095|0.15095	1.083000|1.083000	0.30815|0.30815	0.103000|0.103000	0.17682|0.17682	-0.157000|-0.157000	0.13467|0.13467	GCC|CCT	ANK2	-	NULL		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114290917	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.780	A	A	114290917	C	A	114290917	3	1	83	1	0	0	0	0	1	0	0	0	621	739	26	4	11801	4	ANK2	4	114290917	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		114290917	76863359	17	12627										
TRIM2	23321	genome.wustl.edu	37	chr4	154197120	154197120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cgccagacctccatcctgccCgagaaaggggtggccgcgct	13	16	0	2	rs370159648	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr4:154197120C>T	ENST00000437508.2	+	3	411	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TRIM2_ENST00000338700.5_Silent_p.P97P|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	70					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P97P(1)|p.P70P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCATCCTGCCCGAGAAAGGGG	0.577													C|||	2	0.000399361	0	0	5008	,	,		19120	0		0	False		,,,				2504	0.002																2	Substitution - coding silent(2)	lung(2)						C	,	0,4406		0,0,2203	75	70	71		210,291	3.7	1	4		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/745,97/772	154197120	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.210C>T	4.37:g.154197120C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.P97	ENST00000437508.2	37	c.291	CCDS47147.1	4																																																																																			TRIM2	-	NULL		0.577	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	C			154197120	1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154197120	C	T	154197120	2	4	83	1	0	0	0	0	0	0	0	1	16525	639	23	2		2	TRIM2	4	154197120	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	39906203	154197120	36957156	18	12628										
PCDHB16	57717	genome.wustl.edu	37	chr5	140563815	140563815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccaacgacaactcgcccttcGtgctgtacccgctgcagaac	8	17	0	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr5:140563815G>A	ENST00000361016.2	+	1	2836	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.716																																																	0													11	14	13					5																	140563815		1907	3778	5685	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1681G>A	5.37:g.140563815G>A	ENSP00000354293:p.Val561Met		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V561M	ENST00000361016.2	37	c.1681	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580989	0.65992	.	.	ENSG00000196963	ENST00000361016	T	0.02050	4.48	4.12	4.12	0.48240	Cadherin (2);Cadherin-like (1);	0.000000	0.31404	N	0.007710	T	0.07773	0.0195	M	0.62016	1.91	0.27438	N	0.95379	D	0.89917	1.0	D	0.68192	0.956	T	0.04347	-1.0958	10	0.87932	D	0	.	6.2419	0.20795	0.0971:0.0:0.7174:0.1855	.	561	Q9NRJ7	PCDBG_HUMAN	M	561	ENSP00000354293:V561M	ENSP00000354293:V561M	V	+	1	0	PCDHB16	140543999	0.185000	0.23213	1.000000	0.80357	0.997000	0.91878	0.588000	0.23924	1.860000	0.53959	0.479000	0.44913	GTG	PCDHB16	-	superfamily_Cadherin-like,pfscan_Cadherin		0.716	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	G	NM_020957		140563815	1	no_errors	ENST00000361016	ensembl	human	known	70_37	missense	SNP	0.848	A	A	140563815	G	A	140563815	3	1	83	1	0	0	0	0	1	0	0	0	11565	1145	40	2	1683	2	PCDHB16	5	140563815	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		140563815	40351445	19	12629										
PCDHB10	56126	genome.wustl.edu	37	chr5	140573806	140573806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccaacgacaactcgcccttcGtgctgtacccgctgcagaac	8	17	0	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr5:140573806G>A	ENST00000239446.4	+	1	1865	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.731																																																	0													13	18	16					5																	140573806		1784	3769	5553	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1681G>A	5.37:g.140573806G>A	ENSP00000239446:p.Val561Met		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V561M	ENST00000239446.4	37	c.1681	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	g	16.88	3.244284	0.59103	.	.	ENSG00000120324	ENST00000239446	T	0.02050	4.48	3.53	3.53	0.40419	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.39898	1.24	0.29153	N	0.878233	D	0.89917	1.0	D	0.71870	0.975	T	0.23154	-1.0196	9	0.87932	D	0	.	4.7619	0.13111	0.1119:0.0:0.6076:0.2805	.	561	Q9UN67	PCDBA_HUMAN	M	561	ENSP00000239446:V561M	ENSP00000239446:V561M	V	+	1	0	PCDHB10	140553990	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.269000	0.08596	1.994000	0.58287	0.549000	0.68633	GTG	PCDHB10	-	superfamily_Cadherin-like,pfscan_Cadherin		0.731	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	G	NM_018930		140573806	1	no_errors	ENST00000239446	ensembl	human	known	70_37	missense	SNP	0.894	A	A	140573806	G	A	140573806	3	1	83	1	0	0	0	0	1	0	0	0	11559	1145	40	2	1683	2	PCDHB10	5	140573806	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	9991	140573806	40341454	20	12630										
DNAH8	1769	genome.wustl.edu	37	chr6	38840874	38840874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tgccacggtttctaggatggGcatggtctatatcagcagct	12	9	3	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr6:38840874G>A	ENST00000359357.3	+	49	7033	c.6779G>A	c.(6778-6780)gGc>gAc	p.G2260D	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2477D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2224D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2260	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTAGGATGGGCATGGTCTAT	0.512																																																	0													89	92	91					6																	38840874		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6779G>A	6.37:g.38840874G>A	ENSP00000352312:p.Gly2260Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2260D	ENST00000359357.3	37	c.6779		6	.	.	.	.	.	.	.	.	.	.	G	33	5.222672	0.95139	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64803	-0.12;-0.12;-0.12	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84861	0.0819	10	0.87932	D	0	.	20.0621	0.97678	0.0:0.0:1.0:0.0	.	2260	Q96JB1	DYH8_HUMAN	D	2465;2465;2260;2224	ENSP00000333363:G2465D;ENSP00000352312:G2260D;ENSP00000402294:G2224D	ENSP00000333363:G2465D	G	+	2	0	DNAH8	38948852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GGC	DNAH8	-	smart_AAA+_ATPase		0.512	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38840874	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38840874	G	A	38840874	3	1	83	1	0	0	0	0	1	0	0	0	4617	1203	42	4	6965	4	DNAH8	6	38840874	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		38840874	132274193	21	12631										
MAP7	9053	genome.wustl.edu	37	chr6	136698939	136698939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cttttacttctggccaggaaCgaatgtgtgggcgtcaggag	14	8	2	0	rs139137339	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr6:136698939C>T	ENST00000354570.3	-	7	1115	c.705G>A	c.(703-705)tcG>tcA	p.S235S	MAP7_ENST00000438100.2_Silent_p.S220S|MAP7_ENST00000432797.2_Silent_p.S89S|MAP7_ENST00000454590.1_Silent_p.S257S|MAP7_ENST00000544465.1_Silent_p.S220S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	235					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGGCCAGGAACGAATGTGTGG	0.527																																																	0								C	,,,,,,,,,	0,4406		0,0,2203	122	105	111		771,771,660,771,660,594,423,267,267,705	4.7	1	6	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	,,,,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,,,,	257/772,257/780,220/735,257/772,220/735,198/713,141/656,89/604,89/604,235/750	136698939	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.705G>A	6.37:g.136698939C>T			B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	pfam_E-MAP-115	p.S257	ENST00000354570.3	37	c.771	CCDS5178.1	6																																																																																			MAP7	-	NULL		0.527	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	C	NM_003980		136698939	-1	no_errors	ENST00000454590	ensembl	human	known	70_37	silent	SNP	1.000	T	T	136698939	C	T	136698939	2	4	83	1	0	0	0	0	0	0	0	1	9289	523	19	2		2	MAP7	6	136698939	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	97858065	136698939	34416128	22	12632										
GCK	2645	genome.wustl.edu	37	chr7	44189446	44189446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	attcaccattgccaccacatCcatttcaaagtcctgccaag	4	15	2	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr7:44189446C>T	ENST00000403799.3	-	6	1061	c.592G>A	c.(592-594)Gat>Aat	p.D198N	GCK_ENST00000437084.1_Missense_Mutation_p.D181N|GCK_ENST00000345378.2_Missense_Mutation_p.D199N|GCK_ENST00000395796.3_Missense_Mutation_p.D197N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	198	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCCACCACATCCATTTCAAAG	0.592																																																	0													140	119	126					7																	44189446		2203	4300	6503	SO:0001583	missense	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.592G>A	7.37:g.44189446C>T	ENSP00000384247:p.Asp198Asn		A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.D199N	ENST00000403799.3	37	c.595	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.210695	0.95069	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31	5.96	5.96	0.96718	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	L	0.41415	1.275	0.80722	D	1	D;B;D	0.89917	1.0;0.012;0.999	D;B;D	0.83275	0.996;0.025;0.994	D	0.99327	1.0908	10	0.33940	T	0.23	-45.4969	20.0324	0.97544	0.0:1.0:0.0:0.0	.	198;199;197	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	N	198;197;199;181	ENSP00000384247:D198N;ENSP00000379142:D197N;ENSP00000223366:D199N;ENSP00000402840:D181N	ENSP00000223366:D199N	D	-	1	0	GCK	44155971	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAT	GCK	-	pfam_Hexokinase_N		0.592	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2	C			44189446	-1	no_errors	ENST00000345378	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44189446	C	T	44189446	3	4	83	1	0	0	0	0	1	0	0	0	6312	855	30	1	825	1	GCK	7	44189446	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		44189446	114949217	23	12633										
PEBP4	157310	genome.wustl.edu	37	chr8	22582443	22582443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gtagcgatggaagccactgtGtgccggtggggagggagcct	19	8	0	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr8:22582443G>A	ENST00000256404.6	-	6	521	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	144						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AAGCCACTGTGTGCCGGTGGG	0.527																																																	0													66	76	72					8																	22582443		2014	4162	6176	SO:0001583	missense	157310			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.430C>T	8.37:g.22582443G>A	ENSP00000256404:p.His144Tyr		Q5EVA1|Q8WW74	Missense_Mutation	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.H144Y	ENST00000256404.6	37	c.430	CCDS43724.1	8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942773	0.34283	.	.	ENSG00000134020	ENST00000256404	T	0.41758	0.99	5.66	1.07	0.20283	.	1.110990	0.06779	N	0.784943	T	0.35189	0.0923	L	0.39898	1.24	0.09310	N	1	B	0.33212	0.402	B	0.32677	0.15	T	0.34179	-0.9839	10	0.59425	D	0.04	-1.6143	8.6204	0.33857	0.0:0.3602:0.371:0.2688	.	144	Q96S96	PEBP4_HUMAN	Y	144	ENSP00000256404:H144Y	ENSP00000256404:H144Y	H	-	1	0	PEBP4	22638388	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.609000	0.05635	0.146000	0.19002	0.467000	0.42956	CAC	PEBP4	-	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP		0.527	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEBP4	HGNC	protein_coding	OTTHUMT00000375141.2	G	NM_144962		22582443	-1	no_errors	ENST00000256404	ensembl	human	known	70_37	missense	SNP	0.000	A	A	22582443	G	A	22582443	3	1	83	1	0	0	0	0	1	0	0	0	11738	1377	48	4	261	4	PEBP4	8	22582443	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		22582443	123781579	24	12634										
SOX17	64321	genome.wustl.edu	37	chr8	55370985	55370985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gaatccagacctgcacaacgCcgagttgagcaagatgctgg	12	11	0	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr8:55370985C>G	ENST00000297316.4	+	1	491	c.287C>G	c.(286-288)gCc>gGc	p.A96G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	96					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A96G(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTGCACAACGCCGAGTTGAGC	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											22	25	24					8																	55370985		2202	4298	6500	SO:0001583	missense	64321			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.287C>G	8.37:g.55370985C>G	ENSP00000297316:p.Ala96Gly			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A96G	ENST00000297316.4	37	c.287	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004501	0.93287	.	.	ENSG00000164736	ENST00000297316	D	0.98135	-4.74	4.45	4.45	0.53987	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.72032	D	0.01	.	17.2655	0.87085	0.0:1.0:0.0:0.0	.	96	Q9H6I2	SOX17_HUMAN	G	96	ENSP00000297316:A96G	ENSP00000297316:A96G	A	+	2	0	SOX17	55533538	1.000000	0.71417	0.947000	0.38551	0.592000	0.36648	7.381000	0.79718	2.464000	0.83262	0.561000	0.74099	GCC	SOX17	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.627	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	C			55370985	1	no_errors	ENST00000297316	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55370985	C	G	55370985	3	3	83	1	0	0	0	0	1	0	0	0	14977	739	26	4	289	4	SOX17	8	55370985	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	32788542	55370985	90993037	25	12635										
AKNA	80709	genome.wustl.edu	37	chr9	117099458	117099458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cggcccggctcagggccttgTtgagctcctctaggtcgccc	13	16	2	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr9:117099458T>C	ENST00000307564.4	-	22	4357	c.4196A>G	c.(4195-4197)aAc>aGc	p.N1399S	AKNA_ENST00000374075.5_Missense_Mutation_p.N1318S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Missense_Mutation_p.N344S|AKNA_ENST00000223791.3_Missense_Mutation_p.N859S|AKNA_ENST00000374088.3_Missense_Mutation_p.N1399S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1399					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGGGCCTTGTTGAGCTCCTC	0.687																																																	0													35	37	36					9																	117099458		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4196A>G	9.37:g.117099458T>C	ENSP00000303769:p.Asn1399Ser		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.N1399S	ENST00000307564.4	37	c.4196	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	T	3.242	-0.155121	0.06544	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.17691	2.78;2.26;2.78;2.57;2.78	5.13	-2.18	0.07037	.	.	.	.	.	T	0.07773	0.0195	N	0.14661	0.345	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.15484	0.006;0.013	T	0.43015	-0.9417	9	0.07175	T	0.84	1.4529	9.9404	0.41576	0.0:0.4689:0.0:0.5311	.	1399;1318	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	S	1399;344;1399;859;1318	ENSP00000303769:N1399S;ENSP00000363192:N344S;ENSP00000363201:N1399S;ENSP00000223791:N859S;ENSP00000363188:N1318S	ENSP00000223791:N859S	N	-	2	0	AKNA	116139279	0.997000	0.39634	0.005000	0.12908	0.600000	0.36913	0.695000	0.25527	-0.274000	0.09232	-0.371000	0.07208	AAC	AKNA	-	NULL		0.687	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	T	NM_030767		117099458	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.002	C	C	117099458	T	C	117099458	3	2	83	1	0	0	0	0	1	0	0	0	463	1725	60	5	127	5	AKNA	9	117099458	Missense_Mutation	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09		117099458	24113973	26	12636										
PTEN	5728	genome.wustl.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	14	4	0	1	rs121913292|rs121909229		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139	129	133					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89692905	1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89692905	G	A	89692905	3	1	83	1	0	0	0	0	1	0	0	0	12765	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		89692905	45841842	27	12637										
PNLIP	5406	genome.wustl.edu	37	chr10	118319999	118319999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	acatactagtttctttgttcGgaaataaaggaaactctaag	7	6	2	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr10:118319999G>A	ENST00000369221.2	+	11	1160	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	378	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TTCTTTGTTCGGAAATAAAGG	0.343																																																	0													81	85	83					10																	118319999		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1132G>A	10.37:g.118319999G>A	ENSP00000358223:p.Gly378Arg		Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.G378R	ENST00000369221.2	37	c.1132	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830525	0.71258	.	.	ENSG00000175535	ENST00000369221	T	0.75704	-0.96	5.9	5.9	0.94986	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000002	D	0.89301	0.6676	M	0.91090	3.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.90943	0.4799	10	0.87932	D	0	.	17.1989	0.86901	0.0:0.0:1.0:0.0	.	378	P16233	LIPP_HUMAN	R	378	ENSP00000358223:G378R	ENSP00000358223:G378R	G	+	1	0	PNLIP	118309989	1.000000	0.71417	0.992000	0.48379	0.624000	0.37722	3.626000	0.54245	2.806000	0.96561	0.655000	0.94253	GGA	PNLIP	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2		0.343	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	G	NM_000936		118319999	1	no_errors	ENST00000369221	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118319999	G	A	118319999	3	1	83	1	0	0	0	0	1	0	0	0	12173	1117	39	2	1170	2	PNLIP	10	118319999	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	28627094	118319999	17214748	28	12638										
MUC2	4583	genome.wustl.edu	37	chr11	1099467	1099467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gtggaaggctgcttctgtccTgagggcaccatgaactacgc	13	11	1	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:1099467T>C	ENST00000441003.2	+	39	7335	c.7308T>C	c.(7306-7308)ccT>ccC	p.P2436P		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4798					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTCTGTCCTGAGGGCACCA	0.637																																																	0													51	58	55					11																	1099467		2167	4249	6416	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7308T>C	11.37:g.1099467T>C			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P2436	ENST00000441003.2	37	c.7308		11																																																																																			MUC2	-	superfamily_TIL_dom		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	T	NM_002457		1099467	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.001	C	C	1099467	T	C	1099467	2	2	83	1	0	0	0	0	0	0	0	1	9998	1567	55	5		5	MUC2	11	1099467	Silent	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09		1099467	133907049	29	12639										
QSER1	79832	genome.wustl.edu	37	chr11	32995031	32995031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tgctatttctaaaatcaaaaTgaatggcaaagcctataata	5	6	2	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:32995031T>C	ENST00000399302.2	+	11	5242	c.4907T>C	c.(4906-4908)aTg>aCg	p.M1636T	QSER1_ENST00000527788.1_Missense_Mutation_p.M1397T	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1636										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAAATCAAAATGAATGGCAAA	0.313																																																	0													75	70	72					11																	32995031		1816	4070	5886	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4907T>C	11.37:g.32995031T>C	ENSP00000382241:p.Met1636Thr		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.M1636T	ENST00000399302.2	37	c.4907	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.029512|3.029512	0.54790|0.54790	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000527788|ENST00000524678	T;T|.	0.42513|.	0.97;0.97|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.337180|.	0.20223|.	U|.	0.096647|.	T|.	0.58524|.	0.2128|.	L|L	0.36672|0.36672	1.1|1.1	0.44188|0.44188	D|D	0.997008|0.997008	P;P|.	0.43231|.	0.628;0.801|.	B;B|.	0.37508|.	0.16;0.252|.	T|.	0.55283|.	-0.8165|.	10|.	0.59425|.	D|.	0.04|.	.|.	15.6434|15.6434	0.77025|0.77025	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1397;1636|.	Q2KHR3-2;Q2KHR3|.	.;QSER1_HUMAN|.	T|R	1636;1397|657	ENSP00000382241:M1636T;ENSP00000432766:M1397T|.	ENSP00000382241:M1636T|.	M|X	+|+	2|1	0|0	QSER1|QSER1	32951607|32951607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	6.986000|6.986000	0.76200|0.76200	2.104000|2.104000	0.64026|0.64026	0.533000|0.533000	0.62120|0.62120	ATG|TGA	QSER1	-	NULL		0.313	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	T	NM_024774		32995031	1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32995031	T	C	32995031	3	2	83	1	0	0	0	0	1	0	0	0	12912	1464	51	5	4941	5	QSER1	11	32995031	Missense_Mutation	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09	31895564	32995031	102011485	30	12640										
NARS2	79731	genome.wustl.edu	37	chr11	78270635	78270635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	agagtcattggatgtgattaTtggagtatgaatatgtacaa	11	2	1	3	rs372086134		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:78270635T>C	ENST00000281038.5	-	5	919	c.544A>G	c.(544-546)Ata>Gta	p.I182V	RP11-843A23.1_ENST00000526976.1_RNA|NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	182					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GATGTGATTATTGGAGTATGA	0.368																																																	0								T	VAL/ILE	1,4399	2.1+/-5.4	0,1,2199	143	143	143		544	-1.5	1	11		143	0,8584		0,0,4292	no	missense	NARS2	NM_024678.5	29	0,1,6491	CC,CT,TT		0.0,0.0227,0.0077	benign	182/478	78270635	1,12983	2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.544A>G	11.37:g.78270635T>C	ENSP00000281038:p.Ile182Val		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.I182V	ENST00000281038.5	37	c.544	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797265	0.31777	2.27E-4	0.0	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.80393	-1.37;-1.37	5.57	-1.47	0.08772	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.457774	0.25836	N	0.027994	T	0.70996	0.3288	L	0.48174	1.505	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.59963	-0.7355	10	0.44086	T	0.13	-2.3688	11.3353	0.49500	0.0:0.4804:0.0:0.5196	.	182	Q96I59	SYNM_HUMAN	V	182	ENSP00000281038:I182V;ENSP00000432240:I182V	ENSP00000281038:I182V	I	-	1	0	NARS2	77948283	0.000000	0.05858	0.989000	0.46669	0.965000	0.64279	-0.452000	0.06787	-0.195000	0.10382	0.460000	0.39030	ATA	NARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb		0.368	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	T	NM_024678		78270635	-1	no_errors	ENST00000281038	ensembl	human	known	70_37	missense	SNP	0.794	C	C	78270635	T	C	78270635	3	2	83	1	0	0	0	0	1	0	0	0	10194	1493	52	5	929	5	NARS2	11	78270635	Missense_Mutation	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09	45275604	78270635	56735881	31	12641										
PCSK7	9159	genome.wustl.edu	37	chr11	117076957	117076957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tccggctccgatggggccagTggcagggtccactcctacaa	13	14	0	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:117076957T>C	ENST00000320934.3	-	17	2744	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	705					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATGGGGCCAGTGGCAGGGTCC	0.522			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													80	72	75					11																	117076957		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2114A>G	11.37:g.117076957T>C	ENSP00000325917:p.His705Arg		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.H705R	ENST00000320934.3	37	c.2114	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	T	1.974	-0.435694	0.04669	.	.	ENSG00000160613	ENST00000320934	T	0.58652	0.32	4.85	-5.9	0.02275	.	0.862463	0.10311	N	0.689934	T	0.31199	0.0789	N	0.25647	0.755	0.44048	D	0.996782	B	0.02656	0.0	B	0.01281	0.0	T	0.13045	-1.0524	10	0.22706	T	0.39	-1.1385	1.4586	0.02391	0.25:0.3296:0.2666:0.1537	.	705	Q16549	PCSK7_HUMAN	R	705	ENSP00000325917:H705R	ENSP00000325917:H705R	H	-	2	0	PCSK7	116582167	0.768000	0.28519	0.762000	0.31397	0.658000	0.38924	0.026000	0.13599	-1.025000	0.03334	-0.333000	0.08304	CAC	PCSK7	-	NULL		0.522	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	T	NM_004716		117076957	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	0.674	C	C	117076957	T	C	117076957	3	2	83	1	0	0	0	0	1	0	0	0	11629	1696	59	5	247	5	PCSK7	11	117076957	Missense_Mutation	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09	38806322	117076957	17929559	32	12642										
UPK2	7379	genome.wustl.edu	37	chr11	118828883	118828883	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	atcacggtgctgctctctgtCgccatgttcctgctggtgct	11	13	2	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:118828883C>T	ENST00000264031.2	+	5	530	c.495C>T	c.(493-495)gtC>gtT	p.V165V	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	165					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGCTCTCTGTCGCCATGTTCC	0.607																																																	0													126	105	112					11																	118828883		2200	4295	6495	SO:0001819	synonymous_variant	7379			Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"uroplakin II", "uroplakin-2"	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.495C>T	11.37:g.118828883C>T			B0YJ92|O00457|Q53YV0	Silent	SNP	pfam_Uroplakin_II,pirsf_Uroplakin_II	p.V165	ENST00000264031.2	37	c.495	CCDS8404.1	11																																																																																			UPK2	-	pfam_Uroplakin_II,pirsf_Uroplakin_II		0.607	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK2	HGNC	protein_coding	OTTHUMT00000389311.1	C	NM_006760		118828883	1	no_errors	ENST00000264031	ensembl	human	known	70_37	silent	SNP	0.323	T	T	118828883	C	T	118828883	2	4	83	1	0	0	0	0	0	0	0	1	17040	871	31	1		1	UPK2	11	118828883	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	1751926	118828883	16177633	33	12643										
OR8D2	283160	genome.wustl.edu	37	chr11	124189609	124189609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	agaatgacaacactgacatgCgggtagtatggactgtggcc	13	8	0	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:124189609C>T	ENST00000357438.2	-	1	575	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CACTGACATGCGGGTAGTATG	0.453																																																	0													105	97	100					11																	124189609		2201	4299	6500	SO:0001583	missense	283160			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.485G>A	11.37:g.124189609C>T	ENSP00000350022:p.Arg162His		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R162H	ENST00000357438.2	37	c.485	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	c	10.11	1.260789	0.23051	.	.	ENSG00000197263	ENST00000357438	T	0.00091	8.74	3.62	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	1.464910	0.04378	N	0.360324	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18398	-1.0338	10	0.52906	T	0.07	.	5.7746	0.18271	0.1568:0.6501:0.0:0.1931	.	162	Q9GZM6	OR8D2_HUMAN	H	162	ENSP00000350022:R162H	ENSP00000350022:R162H	R	-	2	0	OR8D2	123694819	0.000000	0.05858	0.102000	0.21198	0.076000	0.17211	-0.440000	0.06888	0.465000	0.27167	-0.517000	0.04412	CGC	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	C	NM_001002918		124189609	-1	no_errors	ENST00000357438	ensembl	human	known	70_37	missense	SNP	0.001	T	T	124189609	C	T	124189609	3	4	83	1	0	0	0	0	1	0	0	0	11256	768	27	2	453	2	OR8D2	11	124189609	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	5360726	124189609	10816907	34	12644										
CHD4	1108	genome.wustl.edu	37	chr12	6709699	6709699	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	atatacagaagagaaacacaCctttctttttctttttagtg	5	7	2	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:6709699C>T	ENST00000357008.2	-	8	1227		c.e8+1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GAGAAACACACCTTTCTTTTT	0.483																																					Colon(32;586 792 4568 16848 45314)												0													64	71	68					12																	6709699		2203	4300	6503	SO:0001630	splice_region_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1063+1G>A	12.37:g.6709699C>T			Q8IXZ5	Splice_Site	SNP	-	e7+1	ENST00000357008.2	37	c.1063+1	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911051	0.72983	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6762	0.88232	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6579960	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.423000	0.82170	0.561000	0.74099	.	CHD4	-	-		0.483	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273	Intron	6709699	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	6709699	C	T	6709699	5	4	83	1	0	0	0	0	0	0	1	0	3332	521	18	4	4806	4	CHD4	12	6709699	Splice_Site	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		6709699	127142196	35	12645										
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25398284	C	A	25398284	3	1	83	1	0	0	0	0	1	0	0	0	8458	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	18688585	25398284	108453611	36	12646										
SPRYD3	84926	genome.wustl.edu	37	chr12	53468542	53468542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tgcactttgacccaaactggCggcccttggctcggccattg	11	14	0	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:53468542C>T	ENST00000301463.4	-	5	484	c.398G>A	c.(397-399)cGc>cAc	p.R133H	SPRYD3_ENST00000547837.1_Missense_Mutation_p.R170H	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	133	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCCAAACTGGCGGCCCTTGGC	0.572																																																	0													62	67	66					12																	53468542		2203	4300	6503	SO:0001583	missense	84926			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.398G>A	12.37:g.53468542C>T	ENSP00000301463:p.Arg133His		B9EG99|Q96SK5	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.R133H	ENST00000301463.4	37	c.398	CCDS8845.1	12	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503948	0.64410	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.11277	2.79;2.79	5.08	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.196306	0.42682	D	0.000676	T	0.13329	0.0323	L	0.56199	1.76	0.48185	D	0.999604	P	0.48294	0.908	B	0.42282	0.382	T	0.02966	-1.1088	10	0.49607	T	0.09	-18.2043	13.0843	0.59132	0.1615:0.8385:0.0:0.0	.	133	Q8NCJ5	SPRY3_HUMAN	H	133;170	ENSP00000301463:R133H;ENSP00000449452:R170H	ENSP00000301463:R133H	R	-	2	0	SPRYD3	51754809	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.928000	0.63447	1.507000	0.48752	0.561000	0.74099	CGC	SPRYD3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.572	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD3	HGNC	protein_coding	OTTHUMT00000407264.1	C	NM_032840		53468542	-1	no_errors	ENST00000301463	ensembl	human	known	70_37	missense	SNP	0.998	T	T	53468542	C	T	53468542	3	4	83	1	0	0	0	0	1	0	0	0	15139	768	27	2	958	2	SPRYD3	12	53468542	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	28070258	53468542	80383353	37	12647										
NACA	4666	genome.wustl.edu	37	chr12	57110236	57110236	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tgggagctgtgatgattggcGtgctttctggagctggggca	18	6	1	2	rs144522448	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:57110236G>C	ENST00000454682.1	-	3	5359	c.5078C>G	c.(5077-5079)aCg>aGg	p.T1693R	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1693	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GATGATTGGCGTGCTTTCTGG	0.502			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													268	237	246					12																	57110236		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5078C>G	12.37:g.57110236G>C	ENSP00000403817:p.Thr1693Arg			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.T1693R	ENST00000454682.1	37	c.5078		12	.	.	.	.	.	.	.	.	.	.	G	6.812	0.518829	0.13005	.	.	ENSG00000196531	ENST00000454682	T	0.49432	0.78	3.64	1.75	0.24633	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.28305	0.088	T	0.09335	-1.0679	7	.	.	.	.	3.8115	0.08799	0.2305:0.2048:0.5647:0.0	.	1693	E9PAV3	.	R	1693	ENSP00000403817:T1693R	.	T	-	2	0	NACA	55396503	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.085000	0.11250	0.219000	0.20840	0.305000	0.20034	ACG	NACA	-	NULL		0.502	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		G	NM_005594		57110236	-1	no_errors	ENST00000454682	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57110236	G	C	57110236	3	2	83	1	0	0	0	0	1	0	0	0	10156	1145	40	2	1186	2	NACA	12	57110236	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	3641694	57110236	76741659	38	12648										
ABCC4	10257	genome.wustl.edu	37	chr13	95815421	95815421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	aagatctagcttctcggttaCatttcctcctccatttacag	5	12	2	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr13:95815421C>T	ENST00000376887.4	-	18	2377	c.2263G>A	c.(2263-2265)Gta>Ata	p.V755I	ABCC4_ENST00000431522.1_Missense_Mutation_p.V755I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V708I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V680I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	755	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCGGTTACATTTCCTCCT	0.343																																																	0													208	212	211					13																	95815421		2202	4300	6502	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2263G>A	13.37:g.95815421C>T	ENSP00000366084:p.Val755Ile		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.V755I	ENST00000376887.4	37	c.2263	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	0.896	-0.723844	0.03158	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.61	3.86	0.44501	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.775970	0.12672	N	0.448697	T	0.79782	0.4505	N	0.05259	-0.085	0.21445	N	0.999683	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.013;0.005;0.008;0.008	T	0.66929	-0.5799	10	0.35671	T	0.21	.	9.8178	0.40862	0.0:0.7253:0.0:0.2747	.	680;708;755;755	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	708;755;680;755	ENSP00000388657:V708I;ENSP00000366084:V755I;ENSP00000442024:V680I;ENSP00000398562:V755I	ENSP00000366084:V755I	V	-	1	0	ABCC4	94613422	0.400000	0.25295	0.196000	0.23383	0.005000	0.04900	0.521000	0.22893	0.692000	0.31613	0.655000	0.94253	GTA	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.343	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95815421	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	0.950	T	T	95815421	C	T	95815421	3	4	83	1	0	0	0	0	1	0	0	0	55	478	17	4	1819	4	ABCC4	13	95815421	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		95815421	19354457	39	12649										
RBM23	55147	genome.wustl.edu	37	chr14	23371498	23371498	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gtctgtgccaccatccagtcGctcagtcacatggccaaccc	8	17	3	0	rs369939080		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr14:23371498G>A	ENST00000359890.3	-	11	1219	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	RBM23_ENST00000399922.2_Nonsense_Mutation_p.R326*|RBM23_ENST00000542016.2_Nonsense_Mutation_p.R172*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.R308*|RBM23_ENST00000555209.1_Nonsense_Mutation_p.R92*	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	342					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CCATCCAGTCGCTCAGTCACA	0.547																																																	0								G	stop/ARG,stop/ARG,stop/ARG	0,4026		0,0,2013	73	72	72		1024,922,976	1.7	0	14		72	1,8395		0,1,4197	no	stop-gained,stop-gained,stop-gained	RBM23	NM_001077351.1,NM_001077352.1,NM_018107.4	,,	0,1,6210	AA,AG,GG		0.0119,0.0,0.0081	,,	342/440,308/406,326/424	23371498	1,12421	2013	4198	6211	SO:0001587	stop_gained	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1024C>T	14.37:g.23371498G>A	ENSP00000352956:p.Arg342*		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF	p.R342*	ENST00000359890.3	37	c.1024	CCDS41921.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.83|19.83	3.900721|3.900721	0.72754|0.72754	0.0|0.0	1.19E-4|1.19E-4	ENSG00000100461|ENSG00000100461	ENST00000553884|ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016	.|.	.|.	.|.	4.82|4.82	1.74|1.74	0.24563|0.24563	.|.	.|0.157290	.|0.29940	.|N	.|0.010811	T|.	0.21761|.	0.0524|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36962|.	-0.9726|.	3|.	.|0.02654	.|T	.|1	-1.8865|-1.8865	9.2666|9.2666	0.37645|0.37645	0.0802:0.2623:0.6575:0.0|0.0802:0.2623:0.6575:0.0	.|.	.|.	.|.	.|.	V|X	116|92;342;319;326;308;172	.|.	.|ENSP00000345496:R319X	A|R	-|-	2|1	0|2	RBM23|RBM23	22441338|22441338	0.949000|0.949000	0.32298|0.32298	0.040000|0.040000	0.18447|0.18447	0.020000|0.020000	0.10135|0.10135	1.898000|1.898000	0.39809|0.39809	0.573000|0.573000	0.29400|0.29400	0.563000|0.563000	0.77884|0.77884	GCG|CGA	RBM23	-	tigrfam_CC1_SF		0.547	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM23	HGNC	protein_coding	OTTHUMT00000413545.3	G			23371498	-1	no_errors	ENST00000359890	ensembl	human	known	70_37	nonsense	SNP	0.945	A	A	23371498	G	A	23371498	4	1	83	1	0	0	0	0	0	1	0	0	13153	1095	38	2	311	2	RBM23	14	23371498	Nonsense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09		23371498	83978042	40	12650										
TGFB3	7043	genome.wustl.edu	37	chr14	76437563	76437563	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	agattcttgccaccgatataGcgctgtttggcaatgtgctc	10	10	1	1			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr14:76437563G>C	ENST00000238682.3	-	3	849	c.552C>G	c.(550-552)cgC>cgG	p.R184R	RP11-270M14.5_ENST00000553732.1_lincRNA|TGFB3_ENST00000556285.1_Silent_p.R184R	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	184					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CACCGATATAGCGCTGTTTGG	0.547																																																	0													108	83	91					14																	76437563		2203	4300	6503	SO:0001819	synonymous_variant	7043				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"Endogenous ligands"	11769	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-3"	190230	"arrhythmogenic right ventricular dysplasia 1"	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.552C>G	14.37:g.76437563G>C			Q8WV88	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.R184	ENST00000238682.3	37	c.552	CCDS9846.1	14																																																																																			TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta		0.547	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	G	NM_003239		76437563	-1	no_errors	ENST00000238682	ensembl	human	known	70_37	silent	SNP	1.000	C	C	76437563	G	C	76437563	2	2	83	1	0	0	0	0	0	0	0	1	15849	958	34	4		4	TGFB3	14	76437563	Silent	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	53066065	76437563	30911977	41	12651										
C14orf73	91828	genome.wustl.edu	37	chr14	103568544	103568544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tggagacgctgctggtggccGagaaggcctcgcgcaccttt	15	12	0	2	rs373034943		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr14:103568544G>A	ENST00000380069.3	+	2	560	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	162					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTGGTGGCCGAGAAGGCCTC	0.657																																																	0													13	14	13					14																	103568544		2198	4292	6490	SO:0001583	missense	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.484G>A	14.37:g.103568544G>A	ENSP00000369409:p.Glu162Lys		Q14CR2	Missense_Mutation	SNP	pfam_Sec6	p.E162K	ENST00000380069.3	37	c.484	CCDS32163.1	14	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069132	0.36470	.	.	ENSG00000205436	ENST00000380069	T	0.06068	3.35	4.11	3.22	0.36961	.	0.287593	0.26692	N	0.022983	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	D	0.56521	0.976	B	0.43809	0.432	T	0.33523	-0.9865	10	0.51188	T	0.08	-5.4548	5.6576	0.17650	0.1089:0.2001:0.691:0.0	.	162	Q17RC7	EX3L4_HUMAN	K	162	ENSP00000369409:E162K	ENSP00000369409:E162K	E	+	1	0	EXOC3L4	102638297	0.070000	0.21116	0.001000	0.08648	0.200000	0.23975	2.372000	0.44257	0.934000	0.37316	0.555000	0.69702	GAG	EXOC3L4	-	NULL		0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1	G	XM_941093		103568544	1	no_errors	ENST00000380069	ensembl	human	known	70_37	missense	SNP	0.001	A	A	103568544	G	A	103568544	3	1	83	1	0	0	0	0	1	0	0	0	1783	1059	37	1	490	1	C14orf73	14	103568544	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	27130981	103568544	3780996	42	12652										
HERC1	8925	genome.wustl.edu	37	chr15	63921011	63921011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	atggttggtatggcctaagcCgagctgggaataaatcacaa	12	7	1	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr15:63921011C>T	ENST00000443617.2	-	70	13057	c.12970G>A	c.(12970-12972)Ggc>Agc	p.G4324S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4324					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGCCTAAGCCGAGCTGGGAA	0.448																																																	0													120	114	116					15																	63921011		1869	4109	5978	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12970G>A	15.37:g.63921011C>T	ENSP00000390158:p.Gly4324Ser		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.G4324S	ENST00000443617.2	37	c.12970	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257887	0.80246	.	.	ENSG00000103657	ENST00000443617	D	0.98732	-5.1	5.89	5.89	0.94794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.98542	4.26	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.98030	1.0376	10	0.87932	D	0	.	20.2469	0.98398	0.0:1.0:0.0:0.0	.	4324	Q15751	HERC1_HUMAN	S	4324	ENSP00000390158:G4324S	ENSP00000390158:G4324S	G	-	1	0	HERC1	61708064	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	7.818000	0.86416	2.781000	0.95711	0.555000	0.69702	GGC	HERC1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		63921011	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63921011	C	T	63921011	3	4	83	1	0	0	0	0	1	0	0	0	7077	652	23	2	1651	2	HERC1	15	63921011	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		63921011	38610381	43	12653										
MKL2	57496	genome.wustl.edu	37	chr16	14339465	14339465	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cacaccaagacagaatacatCtactcctgtgagaaagccag	7	12	1	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr16:14339465C>G	ENST00000341243.5	+	9	1127	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	MKL2_ENST00000571589.1_Missense_Mutation_p.S387C|MKL2_ENST00000318282.5_Missense_Mutation_p.S387C|MKL2_ENST00000574045.1_Missense_Mutation_p.S387C			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	376					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGAATACATCTACTCCTGTG	0.418																																																	0													162	146	151					16																	14339465		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1127C>G	16.37:g.14339465C>G	ENSP00000345841:p.Ser376Cys		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.S376C	ENST00000341243.5	37	c.1127		16	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231580	0.22626	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.88	1.38	0.22167	.	1.249920	0.04977	N	0.464921	T	0.30039	0.0752	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.37934	-0.9684	9	0.45353	T	0.12	0.0029	15.7527	0.77997	0.1061:0.2757:0.6182:0.0	.	387;387	B4DGT8;Q9ULH7-4	.;.	C	387;376	.	ENSP00000339086:S387C	S	+	2	0	MKL2	14246966	0.000000	0.05858	0.020000	0.16555	0.794000	0.44872	0.951000	0.29135	0.337000	0.23665	0.655000	0.94253	TCT	MKL2	-	NULL		0.418	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		C	NM_014048		14339465	1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	0.002	G	G	14339465	C	G	14339465	3	3	83	1	0	0	0	0	1	0	0	0	9625	913	32	1	1194	1	MKL2	16	14339465	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		14339465	76015288	44	12654										
HYDIN	54768	genome.wustl.edu	37	chr16	70894771	70894771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	cgcccttttgctaccaggacCggaccttgctctccaggtgg	11	15	1	0	rs112468877		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr16:70894771C>T	ENST00000393567.2	-	70	11961	c.11811G>A	c.(11809-11811)ccG>ccA	p.P3937P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3937					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTACCAGGACCGGACCTTGCT	0.483																																																	0													3	3	3					16																	70894771		1589	3605	5194	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11811G>A	16.37:g.70894771C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.P3936	ENST00000393567.2	37	c.11808	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70894771	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.002	T	T	70894771	C	T	70894771	2	4	83	1	0	0	0	0	0	0	0	1	7487	639	23	2		2	HYDIN	16	70894771	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	56555306	70894771	19459982	45	12655										
KCNJ12	3768	genome.wustl.edu	37	chr17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tgtggaggcccatgtgcgcgCgcagctcatcaagccgcggg	16	13	2	0	rs377513949		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	230					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATGTGCGCGCGCAGCTCATC	0.637										Prostate(3;0.18)																																							0								C	VAL/ALA	0,4406		0,0,2203	88	70	76		689	5.3	1	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ12	NM_021012.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	230/434	21319343	1,13005	2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.689C>T	17.37:g.21319343C>T	ENSP00000463778:p.Ala230Val		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.A230V	ENST00000583088.1	37	c.689	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.222216	0.95139	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.58925	1.835	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.94602	0.7797	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	230	Q14500	IRK12_HUMAN	V	230	ENSP00000328150:A230V	ENSP00000328150:A230V	A	+	2	0	KCNJ12	21259936	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	GCG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	C	NM_021012		21319343	1	no_errors	ENST00000331718	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21319343	C	T	21319343	3	4	83	1	0	0	0	0	1	0	0	0	8066	768	27	2	691	2	KCNJ12	17	21319343	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		21319343	59875867	46	12656										
STAT5A	6776	genome.wustl.edu	37	chr17	40452767	40452767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccgagatcatctggcagaacCggcagcagatccgcagggct	13	13	2	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr17:40452767C>T	ENST00000345506.4	+	9	1510	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	STAT5A_ENST00000452307.2_Missense_Mutation_p.R290W|STAT5A_ENST00000588868.1_Missense_Mutation_p.R290W|STAT5A_ENST00000546010.2_Missense_Mutation_p.R260W|STAT5A_ENST00000590949.1_Missense_Mutation_p.R290W	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	290					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTGGCAGAACCGGCAGCAGAT	0.632																																																	0													45	37	40					17																	40452767		2203	4294	6497	SO:0001583	missense	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.868C>T	17.37:g.40452767C>T	ENSP00000341208:p.Arg290Trp		Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R290W	ENST00000345506.4	37	c.868	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055396	0.75960	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.70045	-0.45;-0.45;-0.45	4.39	4.39	0.52855	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.86705	0.1932	10	0.87932	D	0	-11.3293	17.0006	0.86380	0.0:1.0:0.0:0.0	.	260;292;290	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	W	290;260;292;290	ENSP00000341208:R290W;ENSP00000443107:R260W;ENSP00000400320:R290W	ENSP00000341208:R290W	R	+	1	2	STAT5A	37706293	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.859000	0.48364	1.984000	0.57885	0.306000	0.20318	CGG	STAT5A	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.632	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	C	NM_003152		40452767	1	no_errors	ENST00000345506	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40452767	C	T	40452767	3	4	83	1	0	0	0	0	1	0	0	0	15298	643	23	2	894	2	STAT5A	17	40452767	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09	19133424	40452767	40742443	47	12657										
CPT1C	126129	genome.wustl.edu	37	chr19	50203982	50203982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccggggggtcctggcagccgCgctgtttgcctcgtgtttgt	16	12	0	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr19:50203982C>T	ENST00000392518.4	+	5	695	c.323C>T	c.(322-324)gCg>gTg	p.A108V	CPT1C_ENST00000405931.2_Missense_Mutation_p.A108V|CPT1C_ENST00000598293.1_Missense_Mutation_p.A108V|CPT1C_ENST00000323446.5_Missense_Mutation_p.A108V|CPT1C_ENST00000354199.5_Missense_Mutation_p.A108V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	108					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGCAGCCGCGCTGTTTGCC	0.657																																																	0													120	108	112					19																	50203982		2203	4300	6503	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.323C>T	19.37:g.50203982C>T	ENSP00000376303:p.Ala108Val		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A108V	ENST00000392518.4	37	c.323	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974167	0.02215	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	4.47	4.47	0.54385	.	0.357742	0.20463	N	0.091853	T	0.44138	0.1279	N	0.12569	0.235	0.31993	N	0.604408	P;B;B	0.42620	0.785;0.0;0.001	B;B;B	0.31290	0.127;0.008;0.003	T	0.53070	-0.8490	10	0.06891	T	0.86	-18.361	14.157	0.65424	0.0:1.0:0.0:0.0	.	108;108;108	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	V	108	ENSP00000376303:A108V;ENSP00000346138:A108V;ENSP00000384465:A108V;ENSP00000319343:A108V	ENSP00000319343:A108V	A	+	2	0	CPT1C	54895794	0.807000	0.29009	0.132000	0.22025	0.016000	0.09150	3.617000	0.54181	2.333000	0.79357	0.393000	0.25936	GCG	CPT1C	-	NULL		0.657	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	C	NM_152359		50203982	1	no_errors	ENST00000323446	ensembl	human	known	70_37	missense	SNP	0.026	T	T	50203982	C	T	50203982	3	4	83	1	0	0	0	0	1	0	0	0	3838	768	27	2	333	2	CPT1C	19	50203982	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		50203982	8925001	48	12658										
ZNF331	55422	genome.wustl.edu	37	chr19	54080494	54080494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tggaaaggcctttcggcgtgGtgatgagctcactcagcacc	13	11	2	2			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr19:54080494G>A	ENST00000253144.9	+	7	2013	c.680G>A	c.(679-681)gGt>gAt	p.G227D	ZNF331_ENST00000511154.1_Missense_Mutation_p.G227D|ZNF331_ENST00000511593.2_Missense_Mutation_p.G227D|ZNF331_ENST00000449416.1_Missense_Mutation_p.G227D|ZNF331_ENST00000411977.2_Missense_Mutation_p.G227D|ZNF331_ENST00000513999.1_Missense_Mutation_p.G227D|ZNF331_ENST00000512387.1_Missense_Mutation_p.G227D|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTTCGGCGTGGTGATGAGCTC	0.458			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													59	64	62					19																	54080494		2203	4300	6503	SO:0001583	missense	55422			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.680G>A	19.37:g.54080494G>A	ENSP00000253144:p.Gly227Asp		Q96GJ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G227D	ENST00000253144.9	37	c.680	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884730	0.17540	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35739	N	0.003015	T	0.25938	0.0632	N	0.25789	0.76	0.09310	N	1	P	0.47409	0.895	B	0.38842	0.283	T	0.13602	-1.0503	10	0.37606	T	0.19	.	9.3384	0.38065	0.0:0.2205:0.7795:0.0	.	227	Q9NQX6	ZN331_HUMAN	D	227	ENSP00000253144:G227D;ENSP00000427439:G227D;ENSP00000393817:G227D;ENSP00000393336:G227D;ENSP00000421014:G227D;ENSP00000423156:G227D;ENSP00000421728:G227D	ENSP00000253144:G227D	G	+	2	0	ZNF331	58772306	0.000000	0.05858	0.124000	0.21820	0.832000	0.47134	-0.256000	0.08757	2.049000	0.60858	0.563000	0.77884	GGT	ZNF331	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	G	NM_018555		54080494	1	no_errors	ENST00000253144	ensembl	human	known	70_37	missense	SNP	0.009	A	A	54080494	G	A	54080494	3	1	83	1	0	0	0	0	1	0	0	0	17879	1261	44	4	690	4	ZNF331	19	54080494	Missense_Mutation	SNP	G	TCGA-EA-A4BA-01A-21D-A26G-09	3876512	54080494	5048489	49	12659										
MYH7B	57644	genome.wustl.edu	37	chr20	33567553	33567553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	gccatgatgacgcacctgaaCgaggcctctgtgctgcacaa	11	13	1	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr20:33567553C>T	ENST00000262873.7	+	5	506	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	96	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCACCTGAACGAGGCCTCTG	0.637																																																	0													68	68	68					20																	33567553		2171	4286	6457	SO:0001819	synonymous_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.414C>T	20.37:g.33567553C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N138	ENST00000262873.7	37	c.414	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.637	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	C	NM_020884		33567553	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	silent	SNP	0.996	T	T	33567553	C	T	33567553	2	4	83	1	0	0	0	0	0	0	0	1	10063	535	19	2		2	MYH7B	20	33567553	Silent	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		33567553	29457967	50	12660										
CHEK2	11200	genome.wustl.edu	37	chr22	29095918	29095918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tttgtcaaacagctctccccCttccatcctgaaacacaaag	4	15	2	1	rs587783051		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr22:29095918C>A	ENST00000405598.1	-	10	1107	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	CHEK2_ENST00000403642.1_Missense_Mutation_p.G215W|CHEK2_ENST00000328354.6_Missense_Mutation_p.G306W|CHEK2_ENST00000544772.1_Missense_Mutation_p.G85W|CHEK2_ENST00000402731.1_Missense_Mutation_p.G306W|CHEK2_ENST00000382580.2_Missense_Mutation_p.G349W|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.G306W|CHEK2_ENST00000382566.1_Missense_Mutation_p.R285M|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.G306W|CHEK2_ENST00000382578.1_Missense_Mutation_p.G215W			O96017	CHK2_HUMAN	checkpoint kinase 2	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G306R(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGCTCTCCCCCTTCCATCCTG	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	1	Substitution - Missense(1)	lung(1)											167	165	166					22																	29095918		2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.916G>T	22.37:g.29095918C>A	ENSP00000386087:p.Gly306Trp		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom	p.G349W	ENST00000405598.1	37	c.1045	CCDS13843.1	22	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.3|25.3|25.3	4.621662|4.621662|4.621662	0.87460|0.87460|0.87460	.|.|.	.|.|.	ENSG00000183765|ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000425190|ENST00000434810;ENST00000456369|ENST00000382566	T;T;T;T;T;T;T;T;T;T;T|.|D	0.58210|.|0.93247	0.65;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.65;0.35;1.36|.|-3.19	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.98065|0.98065|0.98065	0.9362|0.9362|0.9362	H|H|H	0.97291|0.97291|0.97291	3.975|3.975|3.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.|.	D|D|D	0.98186|0.98186|0.98186	1.0460|1.0460|1.0460	10|5|7	0.87932|.|0.42905	D|.|T	0|.|0.14	1.9826|1.9826|1.9826	18.7461|18.7461|18.7461	0.91794|0.91794|0.91794	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	306;215;85;306;306;306;349|.|.	O96017-7;O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.|.	.;.;.;.;.;CHK2_HUMAN;.|.|.	W|N|M	306;215;85;306;306;306;349;215;306;239;85|49;57|285	ENSP00000329012:G306W;ENSP00000372021:G215W;ENSP00000442458:G85W;ENSP00000329178:G306W;ENSP00000385747:G306W;ENSP00000386087:G306W;ENSP00000372023:G349W;ENSP00000384919:G215W;ENSP00000384835:G306W;ENSP00000397478:G239W;ENSP00000390244:G85W|.|ENSP00000372007:R285M	ENSP00000329178:G306W|.|ENSP00000372007:R285M	G|K|R	-|-|-	1|3|2	0|2|0	CHEK2|CHEK2|CHEK2	27425918|27425918|27425918	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.892000|0.892000|0.892000	0.51952|0.51952|0.51952	6.589000|6.589000|6.589000	0.74080|0.74080|0.74080	2.675000|2.675000|2.675000	0.91044|0.91044|0.91044	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|AAG|AGG	CHEK2	-	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		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	C	NM_001005735		29095918	-1	no_errors	ENST00000382580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29095918	C	A	29095918	3	1	83	1	0	0	0	0	1	0	0	0	3340	681	24	4	743	4	CHEK2	22	29095918	Missense_Mutation	SNP	C	TCGA-EA-A4BA-01A-21D-A26G-09		29095918	22208648	51	12661										
PJA1	64219	genome.wustl.edu	37	chrX	68382228	68382228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	ccctccacctggaagtactgTgtggcatatcgtcatcatca	8	13	3	0			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chrX:68382228T>C	ENST00000361478.1	-	2	1231	c.854A>G	c.(853-855)cAc>cGc	p.H285R	PJA1_ENST00000374583.1_Missense_Mutation_p.H285R|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.H230R|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	285					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGAAGTACTGTGTGGCATATC	0.502																																																	0													84	71	75					X																	68382228		2203	4300	6503	SO:0001583	missense	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.854A>G	X.37:g.68382228T>C	ENSP00000355014:p.His285Arg		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H285R	ENST00000361478.1	37	c.854	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.201944	0.00296	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.05925	3.37;3.37;3.37	3.07	1.87	0.25490	.	0.649262	0.13314	U	0.397237	T	0.03011	0.0089	N	0.20530	0.585	0.09310	N	1	B	0.24618	0.107	B	0.20577	0.03	T	0.45041	-0.9288	10	0.02654	T	1	-2.1912	4.5018	0.11867	0.0:0.1598:0.0:0.8402	.	285	Q8NG27	PJA1_HUMAN	R	200;285;285;230	ENSP00000363711:H285R;ENSP00000355014:H285R;ENSP00000363699:H230R	ENSP00000355014:H285R	H	-	2	0	PJA1	68298953	0.984000	0.35163	0.168000	0.22838	0.721000	0.41392	1.590000	0.36654	0.433000	0.26313	0.299000	0.19835	CAC	PJA1	-	NULL		0.502	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	T	NM_145119		68382228	-1	no_errors	ENST00000361478	ensembl	human	known	70_37	missense	SNP	0.152	C	C	68382228	T	C	68382228	3	2	83	1	0	0	0	0	1	0	0	0	11985	1696	59	5	1081	5	PJA1	23	68382228	Missense_Mutation	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09		68382228	86888332	52	12662										
DRP2	1821	genome.wustl.edu	37	chrX	100492679	100492679	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0188679245283019	1	1	0.238425925925926	2.14583333333333	0	1	1	0	tcaagagattattgactggcTcagccaaaaggatgaggagt	12	6	2	3			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chrX:100492679T>A	ENST00000395209.3	+	5	880	c.353T>A	c.(352-354)cTc>cAc	p.L118H	DRP2_ENST00000538510.1_Missense_Mutation_p.L118H|DRP2_ENST00000541709.1_Missense_Mutation_p.L40H|DRP2_ENST00000402866.1_Missense_Mutation_p.L118H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	118					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ATTGACTGGCTCAGCCAAAAG	0.527																																																	0													123	113	117					X																	100492679		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.353T>A	X.37:g.100492679T>A	ENSP00000378635:p.Leu118His		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L118H	ENST00000395209.3	37	c.353	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	t	26.5	4.739280	0.89573	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.75260	-0.3380	10	0.87932	D	0	-13.8051	15.2084	0.73198	0.0:0.0:0.0:1.0	.	118	Q13474	DRP2_HUMAN	H	118;118;40;118	ENSP00000385038:L118H;ENSP00000378635:L118H;ENSP00000444752:L40H;ENSP00000441051:L118H	ENSP00000362007:L118H	L	+	2	0	DRP2	100379335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.975000	0.57531	0.438000	0.28831	CTC	DRP2	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2		0.527	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	T	NM_001939		100492679	1	no_errors	ENST00000395209	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100492679	T	A	100492679	3	1	83	1	0	0	0	0	1	0	0	0	4774	1551	54	5	363	5	DRP2	23	100492679	Missense_Mutation	SNP	T	TCGA-EA-A4BA-01A-21D-A26G-09	32110451	100492679	54777881	53	12663										
COL9A2	1298	genome.wustl.edu	37	chr1	40777362	40777362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cagggggtcctgggggccccGatggtccatctggtccaggg	18	12	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:40777362G>A	ENST00000372748.3	-	9	539	c.443C>T	c.(442-444)tCg>tTg	p.S148L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	148	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGGGGGCCCCGATGGTCCATC	0.617																																																	0													44	55	51					1																	40777362		2198	4295	6493	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.443C>T	1.37:g.40777362G>A	ENSP00000361834:p.Ser148Leu		B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.S148L	ENST00000372748.3	37	c.443	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.428838	0.43122	.	.	ENSG00000049089	ENST00000372748;ENST00000372736	D;D	0.96104	-3.91;-3.27	5.93	4.99	0.66335	.	0.350070	0.30940	N	0.008563	D	0.92299	0.7557	L	0.58583	1.82	0.29976	N	0.818122	P	0.37663	0.604	B	0.28784	0.094	D	0.89713	0.3913	10	0.49607	T	0.09	.	12.2412	0.54544	0.0:0.0:0.8301:0.1699	.	148	Q14055	CO9A2_HUMAN	L	148;77	ENSP00000361834:S148L;ENSP00000361821:S77L	ENSP00000361821:S77L	S	-	2	0	COL9A2	40549949	0.997000	0.39634	0.663000	0.29738	0.028000	0.11728	3.594000	0.54008	1.438000	0.47492	0.655000	0.94253	TCG	COL9A2	-	pfam_Collagen		0.617	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	G	NM_001852		40777362	-1	no_errors	ENST00000372748	ensembl	human	known	70_37	missense	SNP	0.995	A	A	40777362	G	A	40777362	3	1	84	1	0	0	0	0	1	0	0	0	3713	1059	37	1	1722	1	COL9A2	1	40777362	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		40777362	208473259	1	12664										
RAD54L	8438	genome.wustl.edu	37	chr1	46714226	46714226	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	agctggccaagagaaaacctGaaggcaggtcctgtgatgat	13	8	0	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:46714226G>A	ENST00000371975.4	+	2	720	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	RAD54L_ENST00000442598.1_Missense_Mutation_p.E16K	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	16					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGAAAACCTGAAGGCAGGTC	0.547								Direct reversal of damage;Homologous recombination																																									0													66	69	68					1																	46714226		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.46G>A	1.37:g.46714226G>A	ENSP00000361043:p.Glu16Lys		Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E16K	ENST00000371975.4	37	c.46	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	4.211	0.037882	0.08148	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88354	-2.37;-2.37	5.69	4.77	0.60923	.	0.577952	0.18060	N	0.152998	T	0.76176	0.3951	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53085	-0.8488	10	0.06365	T	0.9	-2.7117	14.9855	0.71345	0.0:0.1424:0.8576:0.0	.	16	Q92698	RAD54_HUMAN	K	16	ENSP00000396113:E16K;ENSP00000361043:E16K	ENSP00000361043:E16K	E	+	1	0	RAD54L	46486813	0.822000	0.29219	0.044000	0.18714	0.004000	0.04260	5.916000	0.69981	1.522000	0.49001	-0.175000	0.13238	GAA	RAD54L	-	NULL		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	G	NM_003579		46714226	1	no_errors	ENST00000371975	ensembl	human	known	70_37	missense	SNP	0.088	A	A	46714226	G	A	46714226	3	1	84	1	0	0	0	0	1	0	0	0	13023	1291	45	1	52	1	RAD54L	1	46714226	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	5936864	46714226	202536395	2	12665										
C1orf173	127254	genome.wustl.edu	37	chr1	75055650	75055650	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gagaagatgaccttctggcaCtttcatctgtgctgctgtca	10	10	4	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:75055650C>G	ENST00000326665.5	-	12	2059	c.1841G>C	c.(1840-1842)aGt>aCt	p.S614T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S417T	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448																																																	0													92	88	89					1																	75055650		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.1841G>C	1.37:g.75055650C>G	ENSP00000322609:p.Ser614Thr		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.S614T	ENST00000326665.5	37	c.1841	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211335	0.22289	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17854	2.68;2.25	5.26	2.19	0.27852	.	.	.	.	.	T	0.07863	0.0197	L	0.52573	1.65	0.09310	N	1	P;D	0.56521	0.933;0.976	P;P	0.51615	0.461;0.675	T	0.12682	-1.0538	9	0.13108	T	0.6	-0.0141	4.3734	0.11258	0.0:0.5858:0.2057:0.2085	.	417;614	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	T	614;417	ENSP00000322609:S614T;ENSP00000398581:S417T	ENSP00000322609:S614T	S	-	2	0	C1orf173	74828238	0.000000	0.05858	0.157000	0.22605	0.293000	0.27360	0.403000	0.20982	1.215000	0.43411	0.637000	0.83480	AGT	C1orf173	-	NULL		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75055650	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.006	G	G	75055650	C	G	75055650	3	3	84	1	0	0	0	0	1	0	0	0	2019	565	20	4	2763	4	C1orf173	1	75055650	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	28341424	75055650	174194971	3	12666										
GBP2	2634	genome.wustl.edu	37	chr1	89582883	89582883	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aactttcggatgcacaaccgAggatcattaaagcttttact	7	9	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:89582883A>T	ENST00000370466.3	-	6	928	c.660T>A	c.(658-660)ccT>ccA	p.P220P	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	220	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGCACAACCGAGGATCATTAA	0.388																																																	0													69	66	67					1																	89582883		2203	4300	6503	SO:0001819	synonymous_variant	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.660T>A	1.37:g.89582883A>T			Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.P220	ENST00000370466.3	37	c.660	CCDS719.1	1																																																																																			GBP2	-	pfam_Guanylate-bd_N		0.388	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	A	NM_004120		89582883	-1	no_errors	ENST00000370466	ensembl	human	known	70_37	silent	SNP	0.001	T	T	89582883	A	T	89582883	2	4	84	1	0	0	0	0	0	0	0	1	6293	291	11	5		5	GBP2	1	89582883	Silent	SNP	A	TCGA-EA-A50E-01A-21D-A26G-09	14527233	89582883	159667738	4	12667										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156948141	156948141	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgcccatggatgaaggtgaaGagcccaggagggtgagtgcg	18	7	0	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:156948141G>A	ENST00000361409.2	-	6	1107	c.365C>T	c.(364-366)tCt>tTt	p.S122F	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S122F	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	122	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAAGGTGAAGAGCCCAGGAG	0.587																																																	0													91	89	90					1																	156948141		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.365C>T	1.37:g.156948141G>A	ENSP00000354644:p.Ser122Phe		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.S122F	ENST00000361409.2	37	c.365	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204412	0.79127	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67698	-0.28;-0.26	4.68	4.68	0.58851	PDZ/DHR/GLGF (2);	0.000000	0.51477	D	0.000096	T	0.68366	0.2993	L	0.35487	1.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.949;0.969	T	0.72649	-0.4229	10	0.72032	D	0.01	-13.0243	16.8735	0.86045	0.0:0.0:1.0:0.0	.	122;122	O15085;O15085-2	ARHGB_HUMAN;.	F	122	ENSP00000357177:S122F;ENSP00000354644:S122F	ENSP00000354644:S122F	S	-	2	0	ARHGEF11	155214765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.158000	0.77470	2.573000	0.86826	0.563000	0.77884	TCT	ARHGEF11	-	superfamily_PDZ,smart_PDZ		0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156948141	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156948141	G	A	156948141	3	1	84	1	0	0	0	0	1	0	0	0	896	942	33	1	4467	1	ARHGEF11	1	156948141	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	67365258	156948141	92302480	5	12668										
IFT172	26160	genome.wustl.edu	37	chr2	27708261	27708261	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtttggtggagaatttatctCtccgttctccatgttcatca	8	9	4	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:27708261C>T	ENST00000260570.3	-	2	252	c.149G>A	c.(148-150)aGa>aAa	p.R50K	IFT172_ENST00000359466.6_Missense_Mutation_p.R50K|IFT172_ENST00000416524.2_Missense_Mutation_p.R29K	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	50					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAATTTATCTCTCCGTTCTCC	0.448																																																	0													221	194	203					2																	27708261		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.149G>A	2.37:g.27708261C>T	ENSP00000260570:p.Arg50Lys		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.R50K	ENST00000260570.3	37	c.149	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680742	0.68042	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T	0.44083	0.93;1.76	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.33093	0.98	0.80722	D	1	D;B;B;B;P	0.58970	0.984;0.303;0.448;0.155;0.804	D;B;B;B;P	0.68192	0.956;0.085;0.355;0.085;0.47	T	0.44498	-0.9324	10	0.33940	T	0.23	-14.8972	18.4654	0.90752	0.0:1.0:0.0:0.0	.	50;50;50;50;50	B4E3C1;A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;.;IF172_HUMAN	K	50;50;29	ENSP00000260570:R50K;ENSP00000407408:R29K	ENSP00000260570:R50K	R	-	2	0	IFT172	27561765	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.833000	0.75334	2.707000	0.92482	0.557000	0.71058	AGA	IFT172	-	superfamily_WD40_repeat_dom		0.448	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27708261	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27708261	C	T	27708261	3	4	84	1	0	0	0	0	1	0	0	0	7577	913	32	1	5288	1	IFT172	2	27708261	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		27708261	215491112	6	12669										
TMEM178	130733	genome.wustl.edu	37	chr2	39931262	39931262	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ccatcaagtaccacttttctCagcccatccgcttgcgaaac	5	16	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:39931262C>T	ENST00000281961.2	+	2	498	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	148						integral component of membrane (GO:0016021)											CCACTTTTCTCAGCCCATCCG	0.438																																																	0													112	99	103					2																	39931262		2203	4300	6503	SO:0001587	stop_gained	130733			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.442C>T	2.37:g.39931262C>T	ENSP00000281961:p.Gln148*		Q6UWI6|Q8N6N4	Nonsense_Mutation	SNP	NULL	p.Q148*	ENST00000281961.2	37	c.442	CCDS1804.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.062325|6.062325	0.97246|0.97246	.|.	.|.	ENSG00000152154|ENSG00000152154	ENST00000281961|ENST00000378734	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.120297|.	0.64402|.	D|.	0.000020|.	.|T	.|0.73753	.|0.3627	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72360	.|-0.4317	.|3	.|.	.|.	.|.	-16.5549|-16.5549	17.2112|17.2112	0.86930|0.86930	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	148|102	.|.	.|.	Q|S	+|+	1|2	0|0	TMEM178|TMEM178	39784766|39784766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.987000|3.987000	0.56944|0.56944	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	CAG|TCA	TMEM178A	-	NULL		0.438	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM178A	HGNC	protein_coding	OTTHUMT00000250445.2	C	NM_152390		39931262	1	no_errors	ENST00000281961	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	39931262	C	T	39931262	4	4	84	1	0	0	0	0	0	1	0	0	16125	827	29	1	448	1	TMEM178	2	39931262	Nonsense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	12223001	39931262	203268111	7	12670										
DCTN1	1639	genome.wustl.edu	37	chr2	74600065	74600065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gttttctcaccttgggtcgcCgagttgtggtctggacaggc	14	10	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:74600065C>T	ENST00000361874.3	-	7	760	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000409868.1_Missense_Mutation_p.R131Q|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R14Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.R141Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.R14Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	148					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTTGGGTCGCCGAGTTGTGGT	0.517																																																	0													106	94	98					2																	74600065		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.443G>A	2.37:g.74600065C>T	ENSP00000354791:p.Arg148Gln		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.R148Q	ENST00000361874.3	37	c.443	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585172	0.46110	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000407639;ENST00000409438;ENST00000409868;ENST00000458655	T;T;T;T;T;T	0.75477	-0.75;-0.91;-0.67;-0.67;-0.94;-0.6	5.07	5.07	0.68467	.	.	.	.	.	T	0.72961	0.3526	N	0.14661	0.345	0.42490	D	0.99289	D;P;D;D	0.69078	0.994;0.776;0.997;0.997	P;B;D;D	0.66847	0.885;0.063;0.947;0.947	T	0.66705	-0.5856	9	0.10377	T	0.69	.	17.7628	0.88469	0.0:1.0:0.0:0.0	.	148;141;14;14	Q14203;A8MY36;Q14203-2;G5E9H4	DCTN1_HUMAN;.;.;.	Q	148;141;14;14;131;155	ENSP00000354791:R148Q;ENSP00000377571:R141Q;ENSP00000384844:R14Q;ENSP00000387270:R14Q;ENSP00000387327:R131Q;ENSP00000414315:R155Q	ENSP00000354791:R148Q	R	-	2	0	DCTN1	74453573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.904000	0.69886	2.802000	0.96397	0.561000	0.74099	CGG	DCTN1	-	NULL		0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	C	NM_004082		74600065	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74600065	C	T	74600065	3	4	84	1	0	0	0	0	1	0	0	0	4311	652	23	2	3497	2	DCTN1	2	74600065	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	34668803	74600065	168599308	8	12671										
POTEE	445582	genome.wustl.edu	37	chr2	131976213	131976213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gggggagtggcaagagcaacGtgggcgcttctggagaccac	18	9	1	2	rs370032960		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:131976213G>A	ENST00000356920.5	+	1	332	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	POTEE_ENST00000358087.5_Missense_Mutation_p.V80M|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	80					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAGAGCAACGTGGGCGCTTC	0.602																																																	0								G	MET/VAL	0,4406		0,0,2203	95	96	95		238	-0.8	0	2		95	1,8593		0,1,4296	no	missense	POTEE	NM_001083538.1	21	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	80/1076	131976213	1,12999	2203	4297	6500	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.238G>A	2.37:g.131976213G>A	ENSP00000439189:p.Val80Met		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.V80M	ENST00000356920.5	37	c.238	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	4.795	0.147792	0.09134	0.0	1.16E-4	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80480	-1.38;1.46	0.399	-0.799	0.10901	.	.	.	.	.	T	0.52224	0.1721	N	0.17082	0.46	0.09310	N	1	D	0.58620	0.983	B	0.30105	0.111	T	0.54241	-0.8323	8	0.87932	D	0	.	.	.	.	.	80	Q6S8J3	POTEE_HUMAN	M	80	ENSP00000439189:V80M;ENSP00000443049:V80M	ENSP00000439189:V80M	V	+	1	0	AC131180.1	131692683	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	-0.373000	0.07494	-1.746000	0.01335	-1.565000	0.00878	GTG	POTEE	-	NULL		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		G	NM_001083538		131976213	1	no_errors	ENST00000356920	ensembl	human	known	70_37	missense	SNP	0.001	A	A	131976213	G	A	131976213	3	1	84	1	0	0	0	0	1	0	0	0	12288	1145	40	2	240	2	POTEE	2	131976213	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	57376148	131976213	111223160	9	12672										
THSD7B	80731	genome.wustl.edu	37	chr2	138163340	138163340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tttacgccctgctccacgaaCtgtgaagccacaaaaagtag	8	12	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:138163340C>A	ENST00000409968.1	+	13	2836	c.2658C>A	c.(2656-2658)aaC>aaA	p.N886K	THSD7B_ENST00000413152.2_Missense_Mutation_p.N855K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.N886K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	886	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCCACGAACTGTGAAGCCA	0.493																																																	0													58	63	61					2																	138163340		2007	4171	6178	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2658C>A	2.37:g.138163340C>A	ENSP00000387145:p.Asn886Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N886K	ENST00000409968.1	37	c.2658		2	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807127	0.16467	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.59	-8.48	0.00935	.	0.514251	0.20329	N	0.094478	T	0.42810	0.1219	L	0.40543	1.245	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.02519	-1.1147	10	0.48119	T	0.1	.	17.0688	0.86567	0.0:0.7108:0.0881:0.2011	.	886;855	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	886;886;855	ENSP00000387145:N886K;ENSP00000272643:N886K;ENSP00000413841:N855K	ENSP00000272643:N886K	N	+	3	2	THSD7B	137879810	0.001000	0.12720	0.003000	0.11579	0.042000	0.13812	-1.611000	0.02062	-1.630000	0.01545	-0.469000	0.05056	AAC	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		138163340	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	0.012	A	A	138163340	C	A	138163340	3	1	84	1	0	0	0	0	1	0	0	0	15910	564	20	4	2611	4	THSD7B	2	138163340	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	6187127	138163340	105036033	10	12673										
SF3B1	23451	genome.wustl.edu	37	chr2	198260882	198260882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aggaaagcgattttaacactCcattttgaacattcagttca	6	8	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:198260882C>G	ENST00000335508.6	-	23	3528	c.3437G>C	c.(3436-3438)gGa>gCa	p.G1146A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1146					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTTAACACTCCATTTTGAAC	0.363			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													158	151	154					2																	198260882		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3437G>C	2.37:g.198260882C>G	ENSP00000335321:p.Gly1146Ala		E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.G1146A	ENST00000335508.6	37	c.3437	CCDS33356.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.888329|4.888329	0.91814|0.91814	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000424674|ENST00000335508	.|T	.|0.64085	.|-0.08	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84737|0.84737	0.5538|0.5538	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.86918|0.86918	0.2065|0.2065	5|10	.|0.87932	.|D	.|0	.|.	20.3539|20.3539	0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1146	.|O75533	.|SF3B1_HUMAN	Q|A	162|1146	.|ENSP00000335321:G1146A	.|ENSP00000335321:G1146A	E|G	-|-	1|2	0|0	SF3B1|SF3B1	197969127|197969127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.743000|7.743000	0.85020|0.85020	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|GGA	SF3B1	-	superfamily_ARM-type_fold		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	C			198260882	-1	no_errors	ENST00000335508	ensembl	human	known	70_37	missense	SNP	1.000	G	G	198260882	C	G	198260882	3	3	84	1	0	0	0	0	1	0	0	0	14179	855	30	1	489	1	SF3B1	2	198260882	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	60097542	198260882	44938491	11	12674			1	52		2	2	15	C		5.291119e-05
SF3B1	23451	genome.wustl.edu	37	chr2	198260896	198260896	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aacactccattttgaacattCagttcaggaactctgtattc	5	10	3	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:198260896C>T	ENST00000335508.6	-	23	3514	c.3423G>A	c.(3421-3423)ctG>ctA	p.L1141L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1141					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGAACATTCAGTTCAGGAA	0.373			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													164	157	160					2																	198260896		2203	4300	6503	SO:0001819	synonymous_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3423G>A	2.37:g.198260896C>T			E9PCH3	Silent	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.L1141	ENST00000335508.6	37	c.3423	CCDS33356.1	2																																																																																			SF3B1	-	superfamily_ARM-type_fold		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	C			198260896	-1	no_errors	ENST00000335508	ensembl	human	known	70_37	silent	SNP	1.000	T	T	198260896	C	T	198260896	2	4	84	1	0	0	0	0	0	0	0	1	14179	813	29	1		1	SF3B1	2	198260896	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	14	198260896	44938477	12	12675			1	52		2	2	15	C		5.291119e-05
CYP27A1	1593	genome.wustl.edu	37	chr2	219679475	219679475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tggagatgcagctactcctcGcaagggtgagctgggagagg	17	8	0	3	rs72551323	byFrequency	TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:219679475G>A	ENST00000258415.4	+	8	1898	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	491					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GCTACTCCTCGCAAGGGTGAG	0.642																																																	0													31	32	32					2																	219679475		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1471G>A	2.37:g.219679475G>A	ENSP00000258415:p.Ala491Thr		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A491T	ENST00000258415.4	37	c.1471	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602455	0.46423	.	.	ENSG00000135929	ENST00000258415	T	0.71934	-0.61	5.25	-6.59	0.01830	.	0.865163	0.10420	N	0.676874	T	0.45836	0.1362	N	0.25485	0.75	0.27724	N	0.945027	B	0.27166	0.17	B	0.24394	0.053	T	0.44345	-0.9334	10	0.09084	T	0.74	0.0012	8.4106	0.32640	0.1032:0.0:0.4554:0.4414	.	491	Q02318	CP27A_HUMAN	T	491	ENSP00000258415:A491T	ENSP00000258415:A491T	A	+	1	0	CYP27A1	219387719	0.004000	0.15560	0.863000	0.33907	0.962000	0.63368	-0.231000	0.09069	-0.802000	0.04421	0.561000	0.74099	GCA	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.642	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	G			219679475	1	no_errors	ENST00000258415	ensembl	human	known	70_37	missense	SNP	0.739	A	A	219679475	G	A	219679475	3	1	84	1	0	0	0	0	1	0	0	0	4163	1087	38	2	1501	2	CYP27A1	2	219679475	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	21418579	219679475	23519898	13	12676										
SETD2	29072	genome.wustl.edu	37	chr3	47125724	47125724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgagtggtgtatgagcacgcGatgtattctcactagaatac	11	7	1	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:47125724G>A	ENST00000409792.3	-	12	5588	c.5546C>T	c.(5545-5547)tCg>tTg	p.S1849L	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1849					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGAGCACGCGATGTATTCTC	0.468			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													116	100	105					3																	47125724		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5546C>T	3.37:g.47125724G>A	ENSP00000386759:p.Ser1849Leu		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1849L	ENST00000409792.3	37	c.5546	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963415	0.92791	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24350	1.86	5.09	5.09	0.68999	.	0.000000	0.44902	D	0.000417	T	0.46308	0.1386	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.17899	-1.0354	10	0.33141	T	0.24	.	18.8641	0.92283	0.0:0.0:1.0:0.0	.	1849;1849	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1849	ENSP00000386759:S1849L	ENSP00000386759:S1849L	S	-	2	0	SETD2	47100728	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.283000	0.95860	2.516000	0.84829	0.650000	0.86243	TCG	SETD2	-	NULL		0.468	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47125724	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47125724	G	A	47125724	3	1	84	1	0	0	0	0	1	0	0	0	14161	1059	37	1	2188	1	SETD2	3	47125724	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		47125724	150896706	14	12677										
WDR6	11180	genome.wustl.edu	37	chr3	49049120	49049120	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gactttggtgggcatctgcgGatgataaagcgagtgcagaa	15	6	1	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:49049120G>C	ENST00000608424.1	+	2	192	c.153G>C	c.(151-153)cgG>cgC	p.R51R	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Silent_p.R81R|WDR6_ENST00000448293.1_5'UTR|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	51					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCATCTGCGGATGATAAAGC	0.537																																																	0													264	257	260					3																	49049120		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.153G>C	3.37:g.49049120G>C			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R81	ENST00000608424.1	37	c.243		3																																																																																			WDR6	-	NULL		0.537	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049120	1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.585	C	C	49049120	G	C	49049120	2	2	84	1	0	0	0	0	0	0	0	1	17341	1161	41	1		1	WDR6	3	49049120	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	1923396	49049120	148973310	15	12678										
OR5H6	79295	genome.wustl.edu	37	chr3	97983729	97983729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	actgtgacattatcccattgTtaaagatttcctgtactgat	6	8	0	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:97983729T>C	ENST00000383696.2	+	1	642	c.601T>C	c.(601-603)Tta>Cta	p.L201L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATCCCATTGTTAAAGATTTC	0.313																																																	0													64	68	66					3																	97983729		2201	4296	6497	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.601T>C	3.37:g.97983729T>C			Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L201	ENST00000383696.2	37	c.601	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.313	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	T			97983729	1	no_errors	ENST00000383696	ensembl	human	known	70_37	silent	SNP	0.053	C	C	97983729	T	C	97983729	2	2	84	1	0	0	0	0	0	0	0	1	11187	1722	60	5		5	OR5H6	3	97983729	Silent	SNP	T	TCGA-EA-A50E-01A-21D-A26G-09	48934609	97983729	100038701	16	12679										
RASA2	5922	genome.wustl.edu	37	chr3	141291508	141291508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	acccgatgtctggatgagatGatgaaaatagtgggagggca	15	5	1	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:141291508G>A	ENST00000452898.1	+	12	1262	c.1227G>A	c.(1225-1227)atG>atA	p.M409I	RASA2_ENST00000286364.3_Missense_Mutation_p.M409I	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	409	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGGATGAGATGATGAAAATAG	0.363																																																	0													113	113	113					3																	141291508		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1227G>A	3.37:g.141291508G>A	ENSP00000391677:p.Met409Ile		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.M409I	ENST00000452898.1	37	c.1227		3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327645	0.60743	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.78816	-1.21;-1.21	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.045899	0.85682	D	0.000000	T	0.67674	0.2918	L	0.27053	0.805	0.58432	D	0.999995	P;B;B;B	0.43231	0.801;0.24;0.202;0.24	B;B;B;B	0.39771	0.192;0.309;0.205;0.309	T	0.69752	-0.5060	10	0.42905	T	0.14	.	14.7835	0.69784	0.0:0.0:0.8558:0.1442	.	1;409;409;409	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	I	409;409;1	ENSP00000286364:M409I;ENSP00000391677:M409I	ENSP00000286364:M409I	M	+	3	0	RASA2	142774198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.706000	0.92434	0.655000	0.94253	ATG	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.363	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141291508	1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141291508	G	A	141291508	3	1	84	1	0	0	0	0	1	0	0	0	13091	1290	45	1	1273	1	RASA2	3	141291508	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	43307779	141291508	56730922	17	12680										
ZBBX	79740	genome.wustl.edu	37	chr3	167086284	167086284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tctttgtttcttgtggatcgGaattcttgcagtttcttctc	8	8	5	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:167086284G>A	ENST00000392766.2	-	5	487	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ZBBX_ENST00000392764.1_Silent_p.F20F|ZBBX_ENST00000392767.2_Silent_p.F49F|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.F49F|ZBBX_ENST00000307529.5_Silent_p.F49F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	49						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTGGATCGGAATTCTTGCA	0.318																																																	0													153	137	142					3																	167086284		1818	4068	5886	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.147C>T	3.37:g.167086284G>A			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.F49	ENST00000392766.2	37	c.147	CCDS3199.2	3																																																																																			ZBBX	-	NULL		0.318	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167086284	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	silent	SNP	0.523	A	A	167086284	G	A	167086284	2	1	84	1	0	0	0	0	0	0	0	1	17547	1165	41	1		1	ZBBX	3	167086284	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	25794776	167086284	30936146	18	12681										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	84	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	11849807	178936091	19086339	19	12682										
MUC4	4585	genome.wustl.edu	37	chr3	195489068	195489068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cccagccgtcgaagctggccGagacctcagagccgttgcgg	14	15	1	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:195489068G>A	ENST00000346145.4	-	13	1733	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	MUC4_ENST00000349607.4_Missense_Mutation_p.S514L|MUC4_ENST00000475231.1_Missense_Mutation_p.S4749L|MUC4_ENST00000463781.3_Missense_Mutation_p.S4801L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1558					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGCTGGCCGAGACCTCAGA	0.687																																																	0													27	23	25					3																	195489068		2196	4293	6489	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1694C>T	3.37:g.195489068G>A	ENSP00000304207:p.Ser565Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S4801L	ENST00000346145.4	37	c.14402	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	13.75	2.331553	0.41297	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.93	4.93	0.64822	.	0.156175	0.30338	N	0.009846	T	0.69611	0.3130	M	0.76838	2.35	0.21897	N	0.999485	D;D;D;D;D;P	0.76494	0.999;0.98;0.994;0.992;0.992;0.705	D;P;P;P;P;B	0.66979	0.948;0.5;0.674;0.704;0.704;0.243	T	0.63220	-0.6686	10	0.20519	T	0.43	-15.1302	15.3857	0.74699	0.0:0.0:1.0:0.0	.	4673;514;565;4801;4749;1506	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	L	514;565;4801;4749	ENSP00000338109:S514L;ENSP00000304207:S565L;ENSP00000417498:S4801L;ENSP00000420243:S4749L	ENSP00000304207:S565L	S	-	2	0	MUC4	196974739	0.907000	0.30839	0.902000	0.35471	0.088000	0.18126	3.481000	0.53179	2.291000	0.77112	0.555000	0.69702	TCG	MUC4	-	pfam_VWF_type-D,smart_VWF_type-D		0.687	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195489068	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.530	A	A	195489068	G	A	195489068	3	1	84	1	0	0	0	0	1	0	0	0	10001	1059	37	1	1884	1	MUC4	3	195489068	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	16552977	195489068	2533362	20	12683										
DLG1	1739	genome.wustl.edu	37	chr3	196796113	196796113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aactactttcactatcgctgGcattagaagttacatgctct	6	10	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:196796113G>T	ENST00000419354.1	-	20	2343	c.2057C>A	c.(2056-2058)gCc>gAc	p.A686D	DLG1_ENST00000443183.1_Missense_Mutation_p.A570D|DLG1_ENST00000450955.1_Missense_Mutation_p.A675D|DLG1_ENST00000448528.2_Missense_Mutation_p.A686D|DLG1_ENST00000357674.4_Missense_Mutation_p.A675D|DLG1_ENST00000346964.2_Missense_Mutation_p.A708D|DLG1_ENST00000452595.1_Missense_Mutation_p.A570D|DLG1_ENST00000314062.3_Missense_Mutation_p.A635D|DLG1_ENST00000392382.2_Missense_Mutation_p.A653D|DLG1_ENST00000422288.1_Missense_Mutation_p.A635D			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	686					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACTATCGCTGGCATTAGAAGT	0.343																																																	0													71	67	68					3																	196796113		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2057C>A	3.37:g.196796113G>T	ENSP00000407531:p.Ala686Asp		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A708D	ENST00000419354.1	37	c.2123	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685908	0.47991	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.14391	2.57;2.58;2.51;2.56;2.52;2.51;2.56;2.53;2.56;2.58	5.7	5.7	0.88788	Src homology-3 domain (1);	0.304259	0.30311	N	0.009912	T	0.16514	0.0397	L	0.54323	1.7	0.80722	D	1	B;B;P;B;P	0.40834	0.404;0.0;0.704;0.004;0.73	B;B;B;B;B	0.39419	0.299;0.001;0.079;0.011;0.299	T	0.05419	-1.0886	10	0.11794	T	0.64	.	18.8064	0.92038	0.0:0.0:1.0:0.0	.	675;570;570;686;708	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	D	708;686;675;635;686;570;635;686;570;653;675	ENSP00000345731:A708D;ENSP00000350303:A675D;ENSP00000321087:A635D;ENSP00000407531:A686D;ENSP00000398939:A570D;ENSP00000413238:A635D;ENSP00000391732:A686D;ENSP00000396658:A570D;ENSP00000376187:A653D;ENSP00000411278:A675D	ENSP00000321087:A635D	A	-	2	0	DLG1	198280510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.704000	0.92352	0.591000	0.81541	GCC	DLG1	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	G	NM_004087		196796113	-1	no_errors	ENST00000346964	ensembl	human	known	70_37	missense	SNP	1.000	T	T	196796113	G	T	196796113	3	4	84	1	0	0	0	0	1	0	0	0	4564	1203	42	4	685	4	DLG1	3	196796113	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	1307045	196796113	1226317	21	12684										
CHRNA9	55584	genome.wustl.edu	37	chr4	40351154	40351154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtggaatgggaggtccatggCatgcccgctgtgaagaatgt	16	7	0	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:40351154C>T	ENST00000310169.2	+	4	760	c.621C>T	c.(619-621)ggC>ggT	p.G207G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	207					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGGTCCATGGCATGCCCGCTG	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0													234	206	215					4																	40351154		2203	4300	6503	SO:0001819	synonymous_variant	55584			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.621C>T	4.37:g.40351154C>T			Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G207	ENST00000310169.2	37	c.621	CCDS3459.1	4																																																																																			CHRNA9	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	HGNC	protein_coding	OTTHUMT00000216822.1	C			40351154	1	no_errors	ENST00000310169	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40351154	C	T	40351154	2	4	84	1	0	0	0	0	0	0	0	1	3394	697	25	4		4	CHRNA9	4	40351154	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		40351154	150803122	22	12685										
CHRNA9	55584	genome.wustl.edu	37	chr4	40351427	40351427	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcctcagaaaatgtgcccctGataggtgagtccaagtgtct	11	10	2	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:40351427G>A	ENST00000310169.2	+	4	1033	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	298					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	ATGTGCCCCTGATAGGTGAGT	0.493																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0													53	58	56					4																	40351427		2201	4296	6497	SO:0001819	synonymous_variant	55584			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.894G>A	4.37:g.40351427G>A			Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L298	ENST00000310169.2	37	c.894	CCDS3459.1	4																																																																																			CHRNA9	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.493	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	HGNC	protein_coding	OTTHUMT00000216822.1	G			40351427	1	no_errors	ENST00000310169	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40351427	G	A	40351427	2	1	84	1	0	0	0	0	0	0	0	1	3394	1277	45	1		1	CHRNA9	4	40351427	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	273	40351427	150802849	23	12686										
POLR2B	5431	genome.wustl.edu	37	chr4	57883348	57883348	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	catatacacactgtgagattCatccctcaatgatccttggt	6	11	2	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:57883348C>T	ENST00000381227.1	+	16	2508	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y	POLR2B_ENST00000441246.2_Missense_Mutation_p.H692Y|POLR2B_ENST00000431623.2_Missense_Mutation_p.H624Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.H699Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	699					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTGTGAGATTCATCCCTCAAT	0.413																																																	0													349	321	330					4																	57883348		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2095C>T	4.37:g.57883348C>T	ENSP00000370625:p.His699Tyr		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.H699Y	ENST00000381227.1	37	c.2095	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473419	0.84640	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.91	4.91	0.64330	RNA polymerase Rpb2, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	H	0.98577	4.27	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.69307	0.963;0.963	D	0.95754	0.8794	10	0.87932	D	0	.	18.4516	0.90705	0.0:1.0:0.0:0.0	.	624;699	C9J4M6;P30876	.;RPB2_HUMAN	Y	699;624;692;699	ENSP00000370625:H699Y;ENSP00000391096:H624Y;ENSP00000391452:H692Y;ENSP00000312735:H699Y	ENSP00000312735:H699Y	H	+	1	0	POLR2B	57578105	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.772000	0.85439	2.417000	0.82017	0.462000	0.41574	CAT	POLR2B	-	pfam_RNA_pol_Rpb2_5		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	C	NM_000938		57883348	1	no_errors	ENST00000314595	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57883348	C	T	57883348	3	4	84	1	0	0	0	0	1	0	0	0	12239	826	29	1	2153	1	POLR2B	4	57883348	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	17531921	57883348	133270928	24	12687										
CAMK2D	817	genome.wustl.edu	37	chr4	114469863	114469863	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtgacaatgattaacactttCtagaatctgctgtatacaat	6	7	2	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:114469863C>G	ENST00000342666.5	-	6	363	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	CAMK2D_ENST00000429180.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E122Q|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E122Q|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E122Q|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000454265.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E122Q			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTAACACTTTCTAGAATCTGC	0.338																																																	0													92	89	90					4																	114469863		2203	4300	6503	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.364G>C	4.37:g.114469863C>G	ENSP00000339740:p.Glu122Gln		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.E122Q	ENST00000342666.5	37	c.364	CCDS3703.1	4	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324153	0.81580	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	N	0.16656	0.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73512	-0.3959	10	0.66056	D	0.02	.	19.4502	0.94863	0.0:1.0:0.0:0.0	.	122;122;122;122	Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;KCC2D_HUMAN	Q	122	ENSP00000378032:E122Q;ENSP00000415248:E122Q;ENSP00000415707:E122Q;ENSP00000406131:E122Q;ENSP00000378034:E122Q;ENSP00000296402:E122Q;ENSP00000339740:E122Q;ENSP00000423482:E122Q;ENSP00000423677:E122Q;ENSP00000378030:E122Q;ENSP00000369098:E122Q;ENSP00000422566:E122Q	ENSP00000296402:E122Q	E	-	1	0	CAMK2D	114689312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.704000	0.68347	2.608000	0.88229	0.650000	0.86243	GAA	CAMK2D	-	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		0.338	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	C			114469863	-1	no_errors	ENST00000454265	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114469863	C	G	114469863	3	3	84	1	0	0	0	0	1	0	0	0	2606	922	32	1	1282	1	CAMK2D	4	114469863	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	56586515	114469863	76684413	25	12688										
BBS12	166379	genome.wustl.edu	37	chr4	123665085	123665085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ggcgccgagcattggatttaGtattgttagtacttcagaca	11	7	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:123665085G>T	ENST00000314218.3	+	2	2231	c.2038G>T	c.(2038-2040)Gta>Tta	p.V680L	BBS12_ENST00000542236.1_Missense_Mutation_p.V680L	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	680					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATTGGATTTAGTATTGTTAGT	0.368									Bardet-Biedl syndrome																																								0													82	85	84					4																	123665085		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2038G>T	4.37:g.123665085G>T	ENSP00000319062:p.Val680Leu		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.V680L	ENST00000314218.3	37	c.2038	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409187	0.62399	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69685	-0.42;-0.42	5.91	5.07	0.68467	.	0.127880	0.51477	D	0.000082	T	0.79215	0.4408	M	0.74258	2.255	0.54753	D	0.999989	D	0.62365	0.991	P	0.61070	0.883	T	0.81915	-0.0714	10	0.66056	D	0.02	-18.4226	14.8207	0.70070	0.0683:0.0:0.9317:0.0	.	680	Q6ZW61	BBS12_HUMAN	L	680	ENSP00000319062:V680L;ENSP00000438273:V680L	ENSP00000319062:V680L	V	+	1	0	BBS12	123884535	1.000000	0.71417	0.190000	0.23270	0.322000	0.28314	6.977000	0.76141	1.503000	0.48686	0.655000	0.94253	GTA	BBS12	-	superfamily_Cpn60/TCP-1		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	G	NM_152618		123665085	1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	0.999	T	T	123665085	G	T	123665085	3	4	84	1	0	0	0	0	1	0	0	0	1338	1029	36	4	2040	4	BBS12	4	123665085	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	9195222	123665085	67489191	26	12689										
TBC1D9	23158	genome.wustl.edu	37	chr4	141590860	141590860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtctgtgtggctgtggggacGctgttgccatttaggttaaa	15	6	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:141590860G>A	ENST00000442267.2	-	8	1439	c.1365C>T	c.(1363-1365)agC>agT	p.S455S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	455							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGTGGGGACGCTGTTGCCAT	0.577																																																	0													63	70	67					4																	141590860		2108	4216	6324	SO:0001819	synonymous_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1365C>T	4.37:g.141590860G>A			A6H8U8|D3DNZ1|O94958	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S455	ENST00000442267.2	37	c.1365	CCDS47136.1	4																																																																																			TBC1D9	-	NULL		0.577	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	G	NM_015130		141590860	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	silent	SNP	0.588	A	A	141590860	G	A	141590860	2	1	84	1	0	0	0	0	0	0	0	1	15657	1078	38	2		2	TBC1D9	4	141590860	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	17925775	141590860	49563416	27	12690										
ZNF827	152485	genome.wustl.edu	37	chr4	146806944	146806944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tttcagctttgtgtggttggCgggcctgtcggcagcattca	14	9	2	0	rs368474421		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:146806944C>T	ENST00000508784.1	-	4	1860	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	ZNF827_ENST00000379448.4_Missense_Mutation_p.A545T|ZNF827_ENST00000513320.1_Missense_Mutation_p.A195T			Q17R98	ZN827_HUMAN	zinc finger protein 827	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTGTGGTTGGCGGGCCTGTCG	0.557																																																	0								C	THR/ALA	0,4406		0,0,2203	76	76	76		1633	2.7	1	4		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF827	NM_178835.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	545/1078	146806944	1,13005	2203	4300	6503	SO:0001583	missense	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1633G>A	4.37:g.146806944C>T	ENSP00000421863:p.Ala545Thr		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A545T	ENST00000508784.1	37	c.1633		4	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733835	0.30684	0.0	1.16E-4	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.06849	3.3;3.25;3.34	5.62	2.66	0.31614	.	0.427648	0.28964	N	0.013568	T	0.03434	0.0099	N	0.08118	0	0.29186	N	0.876187	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.33954	-0.9848	10	0.22109	T	0.4	-7.5685	4.9085	0.13811	0.0:0.4713:0.164:0.3647	.	195;545;545	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	T	545;195;545;544;195	ENSP00000421863:A545T;ENSP00000423130:A195T;ENSP00000368761:A545T	ENSP00000281318:A544T	A	-	1	0	ZNF827	147026394	0.400000	0.25295	1.000000	0.80357	0.994000	0.84299	0.105000	0.15333	1.216000	0.43427	0.561000	0.74099	GCC	ZNF827	-	NULL		0.557	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	C	NM_178835		146806944	-1	no_errors	ENST00000508784	ensembl	human	known	70_37	missense	SNP	0.988	T	T	146806944	C	T	146806944	3	4	84	1	0	0	0	0	1	0	0	0	18210	768	27	2	1640	2	ZNF827	4	146806944	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	5216084	146806944	44347332	28	12691										
FBXW7	55294	genome.wustl.edu	37	chr4	153253770	153253770	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tcttctttgcatttctctctCcagagaaggttgtcttcagc	7	11	6	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:153253770C>T	ENST00000281708.4	-	6	2192	c.963G>A	c.(961-963)tgG>tgA	p.W321*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W145*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W321*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W241*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W203*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W321*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	321	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.W321*(2)|p.W82*(1)|p.W241*(1)|p.?(1)|p.W203*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTTCTCTCTCCAGAGAAGGT	0.393			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	6	Substitution - Nonsense(5)|Unknown(1)	urinary_tract(5)|haematopoietic_and_lymphoid_tissue(1)											76	77	77					4																	153253770		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.963G>A	4.37:g.153253770C>T	ENSP00000281708:p.Trp321*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W321*	ENST00000281708.4	37	c.963	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.684100	0.97759	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5675	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	X	321;203;241;145	.	ENSP00000263981:W241X	W	-	3	0	FBXW7	153473220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.878000	0.98634	0.650000	0.86243	TGG	FBXW7	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.393	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153253770	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	153253770	C	T	153253770	4	4	84	1	0	0	0	0	0	1	0	0	5787	856	30	1	1188	1	FBXW7	4	153253770	Nonsense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	6446826	153253770	37900506	29	12692										
DCHS2	54798	genome.wustl.edu	37	chr4	155254249	155254249	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cccgcgcccaggctgccgttGaggaacagcacccccagggc	13	18	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:155254249G>C	ENST00000357232.4	-	9	1613	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	DCHS2_ENST00000339452.1_Silent_p.L1037L|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	538	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTGCCGTTGAGGAACAGCA	0.667																																																	0													25	28	27					4																	155254249		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1614C>G	4.37:g.155254249G>C			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L538	ENST00000357232.4	37	c.1614	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155254249	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.500	C	C	155254249	G	C	155254249	2	2	84	1	0	0	0	0	0	0	0	1	4293	1277	45	1		1	DCHS2	4	155254249	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	2000479	155254249	35900027	30	12693										
ETFDH	2110	genome.wustl.edu	37	chr4	159601633	159601633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtgcagcatatcagtgctttCatgccttaaaaattaagaaa	7	7	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:159601633C>T	ENST00000511912.1	+	2	381	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	17					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TCAGTGCTTTCATGCCTTAAA	0.308																																																	0													79	74	76					4																	159601633		2203	4300	6503	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.49C>T	4.37:g.159601633C>T	ENSP00000426638:p.His17Tyr		B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.H17Y	ENST00000511912.1	37	c.49	CCDS3800.1	4	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851467	0.32699	.	.	ENSG00000171503	ENST00000511912	D	0.97209	-4.29	5.63	4.79	0.61399	.	0.451681	0.27424	N	0.019439	D	0.91580	0.7340	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.86011	0.1501	10	0.14252	T	0.57	0.1058	7.572	0.27913	0.0:0.7164:0.1368:0.1467	.	17	Q16134	ETFD_HUMAN	Y	17	ENSP00000426638:H17Y	ENSP00000426638:H17Y	H	+	1	0	ETFDH	159821083	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.072000	0.41510	1.521000	0.48983	0.591000	0.81541	CAT	ETFDH	-	NULL		0.308	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2	C			159601633	1	no_errors	ENST00000511912	ensembl	human	known	70_37	missense	SNP	0.983	T	T	159601633	C	T	159601633	3	4	84	1	0	0	0	0	1	0	0	0	5283	826	29	1	55	1	ETFDH	4	159601633	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	4347384	159601633	31552643	31	12694										
EDIL3	10085	genome.wustl.edu	37	chr5	83549955	83549955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgaagccatctggacactcaCaggaaaaggaaccatcagcc	9	12	3	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:83549955C>T	ENST00000296591.5	-	2	561	c.143G>A	c.(142-144)tGt>tAt	p.C48Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.C48Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	48	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGGACACTCACAGGAAAAGGA	0.388																																																	0													93	84	87					5																	83549955		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.143G>A	5.37:g.83549955C>T	ENSP00000296591:p.Cys48Tyr		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.C48Y	ENST00000296591.5	37	c.143	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979038	0.74360	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.99992	-12.4;-12.4	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.51477	D	0.000099	D	0.99994	0.9999	H	0.97265	3.97	0.58432	D	0.999997	D;D	0.89917	0.988;1.0	D;D	0.97110	0.983;1.0	D	0.99991	1.4297	10	0.87932	D	0	-17.5394	18.6055	0.91264	0.0:1.0:0.0:0.0	.	48;48	O43854-2;O43854	.;EDIL3_HUMAN	Y	48	ENSP00000296591:C48Y;ENSP00000369483:C48Y	ENSP00000296591:C48Y	C	-	2	0	EDIL3	83585711	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	5.847000	0.69451	2.642000	0.89623	0.650000	0.86243	TGT	EDIL3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.388	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	C	NM_005711		83549955	-1	no_errors	ENST00000296591	ensembl	human	known	70_37	missense	SNP	0.998	T	T	83549955	C	T	83549955	3	4	84	1	0	0	0	0	1	0	0	0	4925	478	17	4	1339	4	EDIL3	5	83549955	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		83549955	97365305	32	12695										
NR2F1	7025	genome.wustl.edu	37	chr5	92929440	92929440	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tcctccgtcatcgagcagctCttcttcgtccgtttggtagg	10	13	3	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:92929440C>T	ENST00000327111.3	+	3	2851	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	388					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TCGAGCAGCTCTTCTTCGTCC	0.567																																																	0													135	129	131					5																	92929440		2203	4300	6503	SO:0001819	synonymous_variant	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1164C>T	5.37:g.92929440C>T				Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L388	ENST00000327111.3	37	c.1164	CCDS4068.1	5																																																																																			NR2F1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF		0.567	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F1	HGNC	protein_coding	OTTHUMT00000239293.2	C	NM_005654		92929440	1	no_errors	ENST00000327111	ensembl	human	known	70_37	silent	SNP	1.000	T	T	92929440	C	T	92929440	2	4	84	1	0	0	0	0	0	0	0	1	10651	900	32	1		1	NR2F1	5	92929440	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	9379485	92929440	87985820	33	12696										
PCDHA7	56141	genome.wustl.edu	37	chr5	140215295	140215295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gggccactgctagcgtgtccGtggaggtggccgacgtgaac	17	11	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:140215295G>A	ENST00000525929.1	+	1	1327	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V443M	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGTGTCCGTGGAGGTGGC	0.662																																					NSCLC(160;258 2013 5070 22440 28951)												0													76	79	78					5																	140215295		2203	4298	6501	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1327G>A	5.37:g.140215295G>A	ENSP00000436426:p.Val443Met		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V443M	ENST00000525929.1	37	c.1327	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259244	0.39995	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.72725	-0.68;-0.68	4.04	4.04	0.47022	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.29066	U	0.013244	D	0.87759	0.6258	M	0.93854	3.465	0.22719	N	0.998817	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.82285	-0.0533	10	0.72032	D	0.01	.	16.5697	0.84608	0.0:0.0:1.0:0.0	.	443;443	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	443	ENSP00000436426:V443M;ENSP00000367365:V443M	ENSP00000367365:V443M	V	+	1	0	PCDHA7	140195479	1.000000	0.71417	0.976000	0.42696	0.266000	0.26442	3.235000	0.51328	1.955000	0.56771	0.305000	0.20034	GTG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	G	NM_018910		140215295	1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.891	A	A	140215295	G	A	140215295	3	1	84	1	0	0	0	0	1	0	0	0	11553	1145	40	2	1329	2	PCDHA7	5	140215295	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	47285855	140215295	40699965	34	12697										
PCDH12	51294	genome.wustl.edu	37	chr5	141324975	141324976	+	Missense_Mutation	DNP	CT	CT	TG													0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cctgctgctgctgctgctgcCtctgctcttgccctcagtcc					rs13188049|rs3833449		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:141324975_141324976CT>TG	ENST00000231484.3	-	4	4735_4736	c.3525_3526AG>CA	c.(3523-3528)agAGgc>agCAgc	p.1175_1176RG>SS		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1175					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgctgctgcctctgctCTTGC	0.584																																																	0																																										SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3525_3526delinsTG	5.37:g.141324975_141324976delinsTG	ENSP00000231484:p.R1175_G1176delinsSS		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1176S|p.R1175S	ENST00000231484.3	37	c.3526|c.3525	CCDS4269.1	5																																																																																			PCDH12	-	NULL		0.584	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	C|T	NM_016580		141324975|141324976	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	missense	SNP	0.010|0.004	T|G	TG	141324976	CT	TG	141324975	3	4	84	1	0	0	0	0	1	0	0	0	11534	681	24	4	32	4	PCDH12	5	141324975	Missense_Mutation	DNP	CT	TCGA-EA-A50E-01A-21D-A26G-09	1109680	141324975	39590285	35	12698										
B4GALT7	11285	genome.wustl.edu	37	chr5	177035597	177035597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcgaggacgacgagttctacCggcgcattaagggagctggg	17	9	1	0	rs147617631	byFrequency	TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:177035597C>T	ENST00000029410.5	+	4	808	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	233					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGTTCTACCGGCGCATTAA	0.632																																																	0								C	TRP/ARG	0,4406		0,0,2203	45	50	48		697	3.6	1	5	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense	B4GALT7	NM_007255.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	233/328	177035597	2,13004	2203	4300	6503	SO:0001583	missense	11285			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.697C>T	5.37:g.177035597C>T	ENSP00000029410:p.Arg233Trp		B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.R233W	ENST00000029410.5	37	c.697	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586815	0.66105	0.0	2.33E-4	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.35048	1.33	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.59912	1.85	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.47182	-0.9137	10	0.44086	T	0.13	-29.9201	12.4854	0.55871	0.3042:0.6958:0.0:0.0	.	233	Q9UBV7	B4GT7_HUMAN	W	233;119	ENSP00000029410:R233W	ENSP00000029410:R233W	R	+	1	2	B4GALT7	176968203	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.797000	0.38804	0.618000	0.30179	0.313000	0.20887	CGG	B4GALT7	-	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met		0.632	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	C	NM_007255		177035597	1	no_errors	ENST00000029410	ensembl	human	known	70_37	missense	SNP	1.000	T	T	177035597	C	T	177035597	3	4	84	1	0	0	0	0	1	0	0	0	1277	643	23	2	711	2	B4GALT7	5	177035597	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	35710622	177035597	3879663	36	12699										
NRN1	51299	genome.wustl.edu	37	chr6	6002607	6002607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgcacacggtcttgatgttcGtcttgtcgtccaggccctgc	11	13	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:6002607G>A	ENST00000244766.2	-	2	396	c.179C>T	c.(178-180)aCg>aTg	p.T60M	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	60					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTTGATGTTCGTCTTGTCGTC	0.622																																																	0													160	133	142					6																	6002607		2203	4300	6503	SO:0001583	missense	51299			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.179C>T	6.37:g.6002607G>A	ENSP00000244766:p.Thr60Met		B2RA93|Q7Z4Y1	Missense_Mutation	SNP	NULL	p.T60M	ENST00000244766.2	37	c.179	CCDS4495.1	6	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795126	0.31777	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	3.35	0.38373	.	0.365932	0.28047	N	0.016803	T	0.09247	0.0228	N	0.08118	0	0.28989	N	0.888189	B	0.25390	0.125	B	0.16722	0.016	T	0.15838	-1.0423	9	0.42905	T	0.14	-12.1762	10.9187	0.47152	0.0:0.4041:0.5959:0.0	.	60	Q9NPD7	NRN1_HUMAN	M	60	.	ENSP00000244766:T60M	T	-	2	0	NRN1	5947606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.123000	0.57917	0.967000	0.38186	0.462000	0.41574	ACG	NRN1	-	NULL		0.622	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRN1	HGNC	protein_coding	OTTHUMT00000039753.1	G			6002607	-1	no_errors	ENST00000244766	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6002607	G	A	6002607	3	1	84	1	0	0	0	0	1	0	0	0	10682	1145	40	2	257	2	NRN1	6	6002607	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		6002607	165112460	37	12700										
HIST1H2AH	85235	genome.wustl.edu	37	chr6	27114916	27114916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gttgtgaccagtatgtctggAcgtggcaagcaaggcggtaa	15	7	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:27114916A>G	ENST00000377459.1	+	1	56	c.9A>G	c.(7-9)ggA>ggG	p.G3G	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	3						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTATGTCTGGACGTGGCAAGC	0.552																																																	0													66	73	71					6																	27114916		2203	4300	6503	SO:0001819	synonymous_variant	85235			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.9A>G	6.37:g.27114916A>G				Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.G3	ENST00000377459.1	37	c.9	CCDS4622.1	6																																																																																			HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A		0.552	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	A	NM_080596		27114916	1	no_errors	ENST00000377459	ensembl	human	known	70_37	silent	SNP	0.994	G	G	27114916	A	G	27114916	2	3	84	1	0	0	0	0	0	0	0	1	7154	262	10	5		5	HIST1H2AH	6	27114916	Silent	SNP	A	TCGA-EA-A50E-01A-21D-A26G-09	21112309	27114916	144000151	38	12701										
IBTK	25998	genome.wustl.edu	37	chr6	82950091	82950091	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cagcattgtaacaatgactgGagagaaaggccttaatctgg	11	7	1	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:82950091G>C	ENST00000306270.7	-	2	662	c.113C>G	c.(112-114)tCc>tGc	p.S38C	IBTK_ENST00000510291.1_Missense_Mutation_p.S38C|IBTK_ENST00000503631.1_Missense_Mutation_p.S38C	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	38					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACAATGACTGGAGAGAAAGGC	0.458																																																	0													143	136	139					6																	82950091		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.113C>G	6.37:g.82950091G>C	ENSP00000305721:p.Ser38Cys		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.S38C	ENST00000306270.7	37	c.113	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378362	0.82682	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.65916	-0.18;-0.18;-0.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (2);	0.159118	0.56097	D	0.000022	T	0.69296	0.3095	L	0.43923	1.385	0.58432	D	0.999999	D;D;D;D	0.67145	0.986;0.994;0.996;0.994	P;D;P;D	0.67103	0.797;0.949;0.889;0.949	T	0.70854	-0.4759	10	0.72032	D	0.01	-4.9925	19.998	0.97395	0.0:0.0:1.0:0.0	.	38;38;38;38	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	C	38	ENSP00000305721:S38C;ENSP00000422762:S38C;ENSP00000426405:S38C	ENSP00000305721:S38C	S	-	2	0	IBTK	83006810	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.272000	0.72575	2.735000	0.93741	0.561000	0.74099	TCC	IBTK	-	NULL		0.458	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	G	NM_015525		82950091	-1	no_errors	ENST00000306270	ensembl	human	known	70_37	missense	SNP	1.000	C	C	82950091	G	C	82950091	3	2	84	1	0	0	0	0	1	0	0	0	7496	1174	41	1	4060	1	IBTK	6	82950091	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	55835175	82950091	88164976	39	12702										
PGM3	5238	genome.wustl.edu	37	chr6	83898421	83898421	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aataagcactctctgcatatCttgttcctcagcatttgcta	5	11	3	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:83898421C>T	ENST00000283977.4	-	2	184	c.58G>A	c.(58-60)Gat>Aat	p.D20N	PGM3_ENST00000512866.1_Missense_Mutation_p.D101N|PGM3_ENST00000506587.1_Missense_Mutation_p.D129N|PGM3_ENST00000513973.1_Missense_Mutation_p.D101N					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTCTGCATATCTTGTTCCTCA	0.423																																																	0													162	131	142					6																	83898421		2203	4300	6503	SO:0001583	missense	5238			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"acetylglucosamine phosphomutase"	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.58G>A	6.37:g.83898421C>T	ENSP00000283977:p.Asp20Asn			Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM	p.D101N	ENST00000283977.4	37	c.301		6	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623475	0.28889	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554;ENST00000508748	T;T;T;T;T;T	0.62941	0.86;0.86;0.87;-0.01;-0.01;-0.01	5.82	4.03	0.46877	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.247382	0.48767	D	0.000172	T	0.41696	0.1170	L	0.48362	1.52	0.41770	D	0.989766	B;B;B	0.15719	0.014;0.007;0.011	B;B;B	0.27076	0.076;0.05;0.048	T	0.42899	-0.9424	10	0.56958	D	0.05	-10.8054	11.8283	0.52280	0.0:0.8104:0.1233:0.0663	.	129;129;101	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	N	101;101;20;129;20;101;129	ENSP00000424874:D101N;ENSP00000421565:D101N;ENSP00000283977:D20N;ENSP00000425809:D129N;ENSP00000425558:D101N;ENSP00000424865:D129N	ENSP00000283977:D20N	D	-	1	0	PGM3	83955140	0.886000	0.30341	0.010000	0.14722	0.008000	0.06430	1.926000	0.40084	0.803000	0.34113	0.650000	0.86243	GAT	PGM3	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM		0.423	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	PGM3	HGNC	protein_coding	OTTHUMT00000366385.2	C	NM_015599		83898421	-1	no_errors	ENST00000513973	ensembl	human	known	70_37	missense	SNP	0.848	T	T	83898421	C	T	83898421	3	4	84	1	0	0	0	0	1	0	0	0	11824	913	32	1	1371	1	PGM3	6	83898421	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	948330	83898421	87216646	40	12703										
LAMA2	3908	genome.wustl.edu	37	chr6	129802568	129802568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	agcaccacctaggagaaaacGaaggcagactggacaggtac	12	10	0	2	rs530288620		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:129802568G>A	ENST00000421865.2	+	55	7782	c.7733G>A	c.(7732-7734)cGa>cAa	p.R2578Q	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2578	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGAGAAAACGAAGGCAGACT	0.423													G|||	1	0.000199681	0	0	5008	,	,		20851	0		0	False		,,,				2504	0.001																0													137	137	137					6																	129802568		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7733G>A	6.37:g.129802568G>A	ENSP00000400365:p.Arg2578Gln		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2578Q	ENST00000421865.2	37	c.7733	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.224524	0.95139	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.33438	1.41	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.972	T	0.49753	-0.8906	9	.	.	.	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	2579;2578	A6NF00;P24043	.;LAMA2_HUMAN	Q	2578;2577;2578;596	ENSP00000400365:R2578Q	.	R	+	2	0	LAMA2	129844261	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.431000	0.90285	2.701000	0.92244	0.563000	0.77884	CGA	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129802568	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129802568	G	A	129802568	3	1	84	1	0	0	0	0	1	0	0	0	8626	1058	37	1	7951	1	LAMA2	6	129802568	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	45904147	129802568	41312499	41	12704										
CPVL	54504	genome.wustl.edu	37	chr7	29105687	29105687	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ctacatcctgtaacattctgGaagtaagaaggatcacttgt	8	8	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:29105687G>A	ENST00000409850.1	-	14	1561	c.915C>T	c.(913-915)ttC>ttT	p.F305F	CPVL_ENST00000396276.3_Silent_p.F305F|CPVL_ENST00000265394.5_Silent_p.F305F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	305						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAACATTCTGGAAGTAAGAAG	0.348																																																	0													118	117	118					7																	29105687		2203	4300	6503	SO:0001819	synonymous_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.915C>T	7.37:g.29105687G>A			A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.F305	ENST00000409850.1	37	c.915	CCDS5419.1	7																																																																																			CPVL	-	pfam_Peptidase_S10		0.348	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	G	NM_019029		29105687	-1	no_errors	ENST00000265394	ensembl	human	known	70_37	silent	SNP	1.000	A	A	29105687	G	A	29105687	2	1	84	1	0	0	0	0	0	0	0	1	3840	1165	41	1		1	CPVL	7	29105687	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		29105687	130032976	42	12705										
HECW1	23072	genome.wustl.edu	37	chr7	43447187	43447187	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aagccatggggttgaagaaaGggatgtttttcaacccagac	12	7	1	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:43447187G>C	ENST00000395891.2	+	8	1263	c.658G>C	c.(658-660)Ggg>Cgg	p.G220R	HECW1_ENST00000453890.1_Missense_Mutation_p.G220R|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	220	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTTGAAGAAAGGGATGTTTTT	0.433																																																	0													46	43	44					7																	43447187		1848	4101	5949	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.658G>C	7.37:g.43447187G>C	ENSP00000379228:p.Gly220Arg		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G220R	ENST00000395891.2	37	c.658	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	30	5.056890	0.93846	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.42513	0.97;0.97	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049708	0.85682	D	0.000000	T	0.66848	0.2831	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69525	-0.5122	10	0.62326	D	0.03	.	19.052	0.93050	0.0:0.0:1.0:0.0	.	220;252;220	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	R	220;220;219	ENSP00000379228:G220R;ENSP00000407774:G220R	ENSP00000265522:G219R	G	+	1	0	HECW1	43413712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.362000	0.97126	2.488000	0.83962	0.563000	0.77884	GGG	HECW1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.433	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43447187	1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43447187	G	C	43447187	3	2	84	1	0	0	0	0	1	0	0	0	7062	1000	35	4	680	4	HECW1	7	43447187	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	14341500	43447187	115691476	43	12706										
GRB10	2887	genome.wustl.edu	37	chr7	50673007	50673007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cctccaggcgtggccctcctCcagggctgcgctctgggcct	13	18	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:50673007C>T	ENST00000401949.1	-	15	1838	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	GRB10_ENST00000335866.3_Missense_Mutation_p.E399K|GRB10_ENST00000439599.1_Missense_Mutation_p.E451K|GRB10_ENST00000406641.1_Missense_Mutation_p.E399K|GRB10_ENST00000402578.1_Missense_Mutation_p.E399K|GRB10_ENST00000403097.1_Missense_Mutation_p.E451K|GRB10_ENST00000398812.2_Missense_Mutation_p.E457K|GRB10_ENST00000407526.1_Missense_Mutation_p.E399K|GRB10_ENST00000357271.5_Missense_Mutation_p.E411K|GRB10_ENST00000402497.1_Missense_Mutation_p.E399K|GRB10_ENST00000398810.2_Missense_Mutation_p.E399K			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	457					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TGGCCCTCCTCCAGGGCTGCG	0.642									Russell-Silver syndrome																																								0													40	40	40					7																	50673007		1876	4098	5974	SO:0001583	missense	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1369G>A	7.37:g.50673007C>T	ENSP00000385770:p.Glu457Lys		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E457K	ENST00000401949.1	37	c.1369	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.090430	0.97271	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.64;-1.63;-1.76;-1.76;-1.76;-1.63;-1.76;-1.54;-1.76;-1.64;-1.76	5.89	5.89	0.94794	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.79108	0.99;0.992;0.977	D	0.91311	0.5074	10	0.59425	D	0.04	-19.0582	20.2474	0.98399	0.0:1.0:0.0:0.0	.	451;411;457	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	K	457;451;399;399;399;451;399;411;399;457;399	ENSP00000381793:E457K;ENSP00000406716:E451K;ENSP00000338543:E399K;ENSP00000381790:E399K;ENSP00000385189:E399K;ENSP00000385544:E451K;ENSP00000385366:E399K;ENSP00000349818:E411K;ENSP00000385046:E399K;ENSP00000385770:E457K;ENSP00000385748:E399K	ENSP00000338543:E399K	E	-	1	0	GRB10	50640501	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.763000	0.94921	0.655000	0.94253	GAG	GRB10	-	pfam_BPS-dom		0.642	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	HGNC	protein_coding	OTTHUMT00000319157.1	C			50673007	-1	no_errors	ENST00000398812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50673007	C	T	50673007	3	4	84	1	0	0	0	0	1	0	0	0	6776	864	30	1	435	1	GRB10	7	50673007	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	7225820	50673007	108465656	44	12707										
SLC26A3	1811	genome.wustl.edu	37	chr7	107431574	107431574	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tccagtagtgaagaattattCgagttgttaggcaatcccaa	9	7	0	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:107431574C>T	ENST00000340010.5	-	5	673	c.489G>A	c.(487-489)tcG>tcA	p.S163S	SLC26A3_ENST00000422236.2_Silent_p.S128S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	163					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAGAATTATTCGAGTTGTTAG	0.493																																																	0													157	136	143					7																	107431574		2203	4300	6503	SO:0001819	synonymous_variant	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.489G>A	7.37:g.107431574C>T				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S163	ENST00000340010.5	37	c.489	CCDS5748.1	7																																																																																			SLC26A3	-	tigrfam_SulP_transpt		0.493	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107431574	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	silent	SNP	0.000	T	T	107431574	C	T	107431574	2	4	84	1	0	0	0	0	0	0	0	1	14548	871	31	1		1	SLC26A3	7	107431574	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	56758567	107431574	51707089	45	12708										
FLNC	2318	genome.wustl.edu	37	chr7	128483349	128483349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	atgccagcaaagtcaaggccGagggccctgggctgaatcgc	14	12	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:128483349G>A	ENST00000325888.8	+	17	2878	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	FLNC_ENST00000346177.6_Missense_Mutation_p.E873K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	873					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTCAAGGCCGAGGGCCCTGG	0.642																																																	0													34	41	38					7																	128483349		2067	4222	6289	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2617G>A	7.37:g.128483349G>A	ENSP00000327145:p.Glu873Lys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E873K	ENST00000325888.8	37	c.2617	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.512855	0.96402	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84730	-1.89;-1.89	5.5	5.5	0.81552	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.838	D;B	0.73380	0.98;0.396	D	0.90761	0.4665	10	0.66056	D	0.02	.	19.3978	0.94614	0.0:0.0:1.0:0.0	.	873;873	Q14315-2;Q14315	.;FLNC_HUMAN	K	873	ENSP00000327145:E873K;ENSP00000344002:E873K	ENSP00000327145:E873K	E	+	1	0	FLNC	128270585	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.906000	0.87423	2.583000	0.87209	0.561000	0.74099	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128483349	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128483349	G	A	128483349	3	1	84	1	0	0	0	0	1	0	0	0	5953	1059	37	1	2683	1	FLNC	7	128483349	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	21051775	128483349	30655314	46	12709										
ZNF777	27153	genome.wustl.edu	37	chr7	149152526	149152526	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcctgggcctccagcttcctCtccactgcttggacggcagc	11	17	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:149152526C>T	ENST00000247930.4	-	2	911	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCAGCTTCCTCTCCACTGCTT	0.597																																																	0													66	74	71					7																	149152526		2189	4293	6482	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.588G>A	7.37:g.149152526C>T			Q8N2R2|Q8N659	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E196	ENST00000247930.4	37	c.588	CCDS43675.1	7																																																																																			ZNF777	-	pfam_DUF3669_Znf		0.597	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	C	NM_015694		149152526	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	silent	SNP	1.000	T	T	149152526	C	T	149152526	2	4	84	1	0	0	0	0	0	0	0	1	18180	912	32	1		1	ZNF777	7	149152526	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	20669177	149152526	9986137	47	12710										
DLC1	10395	genome.wustl.edu	37	chr8	12946082	12946082	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtttggctgtccagaatttcGatcacttttgaatccaacag	8	9	1	2	rs556430417		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:12946082G>A	ENST00000276297.4	-	16	4615	c.4206C>T	c.(4204-4206)atC>atT	p.I1402I	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.I965I|DLC1_ENST00000520226.1_Silent_p.I891I|DLC1_ENST00000512044.2_Silent_p.I999I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1402	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGAATTTCGATCACTTTTG	0.458																																																	0													161	157	159					8																	12946082		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4206C>T	8.37:g.12946082G>A			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.I1402	ENST00000276297.4	37	c.4206	CCDS5989.1	8																																																																																			DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12946082	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.458	A	A	12946082	G	A	12946082	2	1	84	1	0	0	0	0	0	0	0	1	4560	1048	37	1		1	DLC1	8	12946082	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		12946082	133417940	48	12711										
ASAH1	427	genome.wustl.edu	37	chr8	17916852	17916852	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	atgaccctgcaaaggtacctCttggctggtgcggttcagac	12	11	2	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:17916852C>T	ENST00000262097.6	-	12	1350	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	ASAH1_ENST00000520781.1_Missense_Mutation_p.E322K|ASAH1_ENST00000381733.4_Missense_Mutation_p.E363K|ASAH1_ENST00000314146.10_Missense_Mutation_p.E341K|ASAH1_ENST00000417108.2_Missense_Mutation_p.E257K	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	347					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AAAGGTACCTCTTGGCTGGTG	0.423																																																	0													93	92	92					8																	17916852		2203	4300	6503	SO:0001583	missense	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.1039G>A	8.37:g.17916852C>T	ENSP00000262097:p.Glu347Lys		E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.E363K	ENST00000262097.6	37	c.1087	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	C	6.467	0.454265	0.12283	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.53	4.65	0.58169	.	0.310514	0.40222	N	0.001158	T	0.71350	0.3329	L	0.35249	1.045	0.31642	N	0.647855	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.17979	0.02;0.011;0.013;0.013	T	0.64390	-0.6419	10	0.12430	T	0.62	-3.3718	9.1707	0.37078	0.0:0.7742:0.1469:0.0788	.	341;363;322;347	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	K	347;363;322;257;341	ENSP00000262097:E347K;ENSP00000371152:E363K;ENSP00000427751:E322K;ENSP00000394125:E257K;ENSP00000326970:E341K	ENSP00000262097:E347K	E	-	1	0	ASAH1	17961132	0.853000	0.29707	0.967000	0.41034	0.040000	0.13550	1.081000	0.30791	1.463000	0.47967	0.650000	0.86243	GAG	ASAH1	-	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like		0.423	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	HGNC	protein_coding	OTTHUMT00000214077.2	C	NM_004315		17916852	-1	no_errors	ENST00000381733	ensembl	human	known	70_37	missense	SNP	0.992	T	T	17916852	C	T	17916852	3	4	84	1	0	0	0	0	1	0	0	0	1007	922	32	1	160	1	ASAH1	8	17916852	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	4970770	17916852	128447170	49	12712										
NEFM	4741	genome.wustl.edu	37	chr8	24771768	24771768	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gacgcgtacgaccaggagatCcgcgagctgcgcgccaccct	13	16	0	1	rs377550426		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:24771768C>A	ENST00000221166.5	+	1	1244	c.462C>A	c.(460-462)atC>atA	p.I154I	NEFM_ENST00000518131.1_Silent_p.I154I|RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.I154I|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	154	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ACCAGGAGATCCGCGAGCTGC	0.647																																																	0													26	28	27					8																	24771768		2200	4299	6499	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.462C>A	8.37:g.24771768C>A			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.I154	ENST00000221166.5	37	c.462	CCDS6046.1	8																																																																																			NEFM	-	pfam_F		0.647	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	C	NM_005382		24771768	1	no_errors	ENST00000221166	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24771768	C	A	24771768	2	1	84	1	0	0	0	0	0	0	0	1	10340	845	30	3		3	NEFM	8	24771768	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	6854916	24771768	121592254	50	12713										
VCPIP1	80124	genome.wustl.edu	37	chr8	67547564	67547564	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcattatagacaaaggttttGccaggcagatgtggaaaagt	12	5	0	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:67547564G>T	ENST00000310421.4	-	3	3099	c.2841C>A	c.(2839-2841)ggC>ggA	p.G947G		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	947					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAAAGGTTTTGCCAGGCAGAT	0.363																																					NSCLC(179;265 2915 6144 43644)												0													69	65	66					8																	67547564		2203	4300	6503	SO:0001819	synonymous_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2841C>A	8.37:g.67547564G>T			Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	pfam_OTU,pfscan_OTU	p.G947	ENST00000310421.4	37	c.2841	CCDS6192.1	8																																																																																			VCPIP1	-	NULL		0.363	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	G			67547564	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67547564	G	T	67547564	2	4	84	1	0	0	0	0	0	0	0	1	17172	1306	46	4		4	VCPIP1	8	67547564	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	42775796	67547564	78816458	51	12714										
ZFHX4	79776	genome.wustl.edu	37	chr8	77618364	77618364	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtgtttattgtaagactggaCagcctcaccccaggcttgcc	10	12	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:77618364C>G	ENST00000521891.2	+	2	2489	c.2041C>G	c.(2041-2043)Cag>Gag	p.Q681E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q681E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q681E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q681E|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAAGACTGGACAGCCTCACCC	0.502										HNSCC(33;0.089)																																							0													46	50	48					8																	77618364		2068	4248	6316	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2041C>G	8.37:g.77618364C>G	ENSP00000430497:p.Gln681Glu		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q681E	ENST00000521891.2	37	c.2041	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658085	0.29425	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.65;0.67;0.64;0.63	5.0	5.0	0.66597	.	0.000000	0.42172	U	0.000742	T	0.67192	0.2867	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.61697	0.982;0.99;0.99;0.987	D;D;D;P	0.72982	0.952;0.979;0.979;0.882	T	0.68142	-0.5487	10	0.59425	D	0.04	.	18.85	0.92224	0.0:1.0:0.0:0.0	.	681;681;681;681	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	E	681	ENSP00000430497:Q681E;ENSP00000399605:Q681E;ENSP00000050961:Q681E;ENSP00000430848:Q681E	ENSP00000050961:Q681E	Q	+	1	0	ZFHX4	77780919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.750000	0.94351	0.655000	0.94253	CAG	ZFHX4	-	NULL		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77618364	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77618364	C	G	77618364	3	3	84	1	0	0	0	0	1	0	0	0	17665	479	17	4	2043	4	ZFHX4	8	77618364	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	10070800	77618364	68745658	52	12715										
EIF3H	8667	genome.wustl.edu	37	chr8	117668117	117668117	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gctggcaaggctgagcaattCatgtttatctgcaacagctg	11	9	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:117668117C>T	ENST00000276682.4	-	7	1493	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E229K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CTGAGCAATTCATGTTTATCT	0.383																																																	0													108	97	101					8																	117668117		2203	4300	6503	SO:0001583	missense	8667			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.727G>A	8.37:g.117668117C>T	ENSP00000276682:p.Glu243Lys			Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E229K	ENST00000276682.4	37	c.685		8	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953760	0.92660	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949	T;T	0.44482	0.94;0.92	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	L	0.49350	1.555	0.80722	D	1	P;P	0.39782	0.688;0.524	B;B	0.28849	0.095;0.095	T	0.24621	-1.0155	10	0.44086	T	0.13	-25.3304	20.8598	0.99761	0.0:1.0:0.0:0.0	.	243;229	B3KS98;O15372	.;EIF3H_HUMAN	K	229;243;197	ENSP00000429931:E229K;ENSP00000276682:E243K	ENSP00000276682:E243K	E	-	1	0	EIF3H	117737298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.937000	0.99478	0.650000	0.86243	GAA	EIF3H	-	NULL		0.383	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	C	NM_003756		117668117	-1	no_errors	ENST00000521861	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117668117	C	T	117668117	3	4	84	1	0	0	0	0	1	0	0	0	5030	835	29	1	389	1	EIF3H	8	117668117	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	40049753	117668117	28695905	53	12716										
EPPK1	83481	genome.wustl.edu	37	chr8	144943461	144943461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtacccggccgccgccctctCggcctgcccgagctgctcac	11	21	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:144943461C>T	ENST00000525985.1	-	2	4032	c.3961G>A	c.(3961-3963)Gag>Aag	p.E1321K				P58107	EPIPL_HUMAN	epiplakin 1	1321						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCCCTCTCGGCCTGCCCG	0.652																																																	0													49	56	54					8																	144943461		1930	4113	6043	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3961G>A	8.37:g.144943461C>T	ENSP00000436337:p.Glu1321Lys		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E1321K	ENST00000525985.1	37	c.3961		8	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445670	0.63178	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.4	4.4	0.53042	.	.	.	.	.	D	0.85239	0.5651	M	0.87180	2.865	0.43091	D	0.994767	D	0.89917	1.0	D	0.91635	0.999	D	0.87810	0.2631	9	0.59425	D	0.04	.	14.5075	0.67762	0.0:1.0:0.0:0.0	.	1321	E9PPU0	.	K	1321	ENSP00000436337:E1321K	ENSP00000436337:E1321K	E	-	1	0	EPPK1	145015449	0.998000	0.40836	0.037000	0.18230	0.023000	0.10783	3.857000	0.55972	2.271000	0.75665	0.462000	0.41574	GAG	EPPK1	-	smart_Plectin_repeat		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144943461	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.978	T	T	144943461	C	T	144943461	3	4	84	1	0	0	0	0	1	0	0	0	5202	893	31	1	3305	1	EPPK1	8	144943461	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	27275344	144943461	1420561	54	12717										
JAK2	3717	genome.wustl.edu	37	chr9	5123048	5123048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gagcaagttttctgtggcctCagatgtttggagctttggag	14	6	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:5123048C>T	ENST00000381652.3	+	23	3598	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L	JAK2_ENST00000539801.1_Missense_Mutation_p.S1035L|JAK2_ENST00000544510.1_Missense_Mutation_p.S886L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1035	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGTGGCCTCAGATGTTTGG	0.378		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													133	130	131					9																	5123048		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3104C>T	9.37:g.5123048C>T	ENSP00000371067:p.Ser1035Leu		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1035L	ENST00000381652.3	37	c.3104	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.227942	0.95173	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.89343	-2.5;-2.5;-2.5	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133709	0.52532	D	0.000063	D	0.94712	0.8294	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94960	0.8107	10	0.87932	D	0	-10.3375	19.4303	0.94760	0.0:1.0:0.0:0.0	.	1035	O60674	JAK2_HUMAN	L	1035;1035;886	ENSP00000440387:S1035L;ENSP00000371067:S1035L;ENSP00000443103:S886L	ENSP00000371067:S1035L	S	+	2	0	JAK2	5113048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.474000	0.81024	2.579000	0.87056	0.650000	0.86243	TCA	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.378	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	C			5123048	1	no_errors	ENST00000381652	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5123048	C	T	5123048	3	4	84	1	0	0	0	0	1	0	0	0	7958	838	29	1	3186	1	JAK2	9	5123048	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		5123048	136090383	55	12718										
COL27A1	85301	genome.wustl.edu	37	chr9	116999975	116999975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	acaaaggatccattgggtttCccgggccccctggacccgag	12	14	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:116999975C>A	ENST00000356083.3	+	19	3098	c.2707C>A	c.(2707-2709)Ccc>Acc	p.P903T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATTGGGTTTCCCGGGCCCCC	0.607																																																	0													67	65	66					9																	116999975		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2707C>A	9.37:g.116999975C>A	ENSP00000348385:p.Pro903Thr		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P903T	ENST00000356083.3	37	c.2707	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373933	0.61735	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93019	-3.15	5.66	5.66	0.87406	.	.	.	.	.	D	0.95153	0.8429	L	0.54908	1.71	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.92991	0.6415	9	0.21014	T	0.42	.	15.2384	0.73450	0.0:1.0:0.0:0.0	.	903	Q8IZC6	CORA1_HUMAN	T	903	ENSP00000348385:P903T	ENSP00000348385:P903T	P	+	1	0	COL27A1	116039796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.203000	0.65174	2.675000	0.91044	0.655000	0.94253	CCC	COL27A1	-	pfam_Collagen		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		116999975	1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116999975	C	A	116999975	3	1	84	1	0	0	0	0	1	0	0	0	3690	855	30	3	2781	3	COL27A1	9	116999975	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	111876927	116999975	24213456	56	12719										
DFNB31	25861	genome.wustl.edu	37	chr9	117266531	117266531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cgcgcagaatctggtccccgAcccgcagtccttccttctca	8	18	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:117266531A>G	ENST00000362057.3	-	1	719	c.551T>C	c.(550-552)gTc>gCc	p.V184A	DFNB31_ENST00000265134.6_5'Flank|DFNB31_ENST00000480518.1_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.V184A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGTCCCCGACCCGCAGTCC	0.637																																																	0													81	83	82					9																	117266531		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.551T>C	9.37:g.117266531A>G	ENSP00000354623:p.Val184Ala		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V184A	ENST00000362057.3	37	c.551	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	A	32	5.149564	0.94645	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.27104	1.69;1.69	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.066783	0.64402	D	0.000007	T	0.36220	0.0959	N	0.25031	0.7	0.58432	D	0.999995	P;D;D	0.65815	0.955;0.995;0.975	P;D;P	0.64410	0.74;0.925;0.728	T	0.12863	-1.0531	10	0.48119	T	0.1	-28.5578	16.1354	0.81481	1.0:0.0:0.0:0.0	.	184;184;184	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	A	184	ENSP00000354623:V184A;ENSP00000363170:V184A	ENSP00000354623:V184A	V	-	2	0	DFNB31	116306352	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	8.334000	0.90028	2.207000	0.71202	0.533000	0.62120	GTC	DFNB31	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	A	NM_015404		117266531	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	0.999	G	G	117266531	A	G	117266531	3	3	84	1	0	0	0	0	1	0	0	0	4465	275	10	5	2220	5	DFNB31	9	117266531	Missense_Mutation	SNP	A	TCGA-EA-A50E-01A-21D-A26G-09	266556	117266531	23946900	57	12720										
RC3H2	54542	genome.wustl.edu	37	chr9	125617541	125617541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgtggtatggtaacctgtacGggaagatctggaaatcgcac	13	7	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:125617541G>A	ENST00000373670.1	-	14	3337	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	RC3H2_ENST00000423239.2_Missense_Mutation_p.R913C|RC3H2_ENST00000357244.2_Missense_Mutation_p.R913C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	913					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TAACCTGTACGGGAAGATCTG	0.438																																																	0													127	123	124					9																	125617541		1922	4131	6053	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2737C>T	9.37:g.125617541G>A	ENSP00000362774:p.Arg913Cys		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R913C	ENST00000373670.1	37	c.2737	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245572	0.80024	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000398671	T;T;T	0.52295	0.67;0.67;0.69	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.62315	-0.6880	10	0.87932	D	0	0.8726	15.7736	0.78190	0.0:0.0:1.0:0.0	.	913;913	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	C	913;913;784;913;48	ENSP00000362774:R913C;ENSP00000349783:R913C;ENSP00000411767:R913C	ENSP00000349783:R913C	R	-	1	0	RC3H2	124657362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.043000	0.76572	2.449000	0.82847	0.655000	0.94253	CGT	RC3H2	-	NULL		0.438	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	G	NM_018835		125617541	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125617541	G	A	125617541	3	1	84	1	0	0	0	0	1	0	0	0	13197	1116	39	2	944	2	RC3H2	9	125617541	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	8351010	125617541	15595890	58	12721										
NUP188	23511	genome.wustl.edu	37	chr9	131768560	131768560	+	Silent	SNP	C	C	G													0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gaaaactgcttctacctgctCatctctcaggcgatgcggta							TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:131768560C>G	ENST00000372577.2	+	43	5007	c.4986C>G	c.(4984-4986)ctC>ctG	p.L1662L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1662					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTACCTGCTCATCTCTCAGG	0.567											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119	116	117					9																	131768560		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4986C>G	9.37:g.131768560C>G		1590	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L1662	ENST00000372577.2	37	c.4986	CCDS35156.1	9																																																																																			NUP188	-	NULL		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131768560	1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	1.000	G	G	131768560	C	G	131768560	2	3	84	1	0	0	0	0	0	0	0	1	10782	813	29	1		1	NUP188	9	131768560	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	6151019	131768560	9444871	59	12722	68	2								
NUP188	23511	genome.wustl.edu	37	chr9	131768567	131768567	+	Nonsense_Mutation	SNP	C	C	T													0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcttctacctgctcatctctCaggcgatgcggtaccttagg							TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:131768567C>T	ENST00000372577.2	+	43	5014	c.4993C>T	c.(4993-4995)Cag>Tag	p.Q1665*	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1665					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTCATCTCTCAGGCGATGCG	0.572											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													120	118	119					9																	131768567		2203	4300	6503	SO:0001587	stop_gained	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4993C>T	9.37:g.131768567C>T	ENSP00000361658:p.Gln1665*	1590	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.Q1665*	ENST00000372577.2	37	c.4993	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	44	11.089757	0.99514	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.9331	18.4285	0.90617	0.0:1.0:0.0:0.0	.	.	.	.	X	1554;1665	.	ENSP00000349125:Q1554X	Q	+	1	0	NUP188	130808388	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.298000	0.78815	2.586000	0.87340	0.561000	0.74099	CAG	NUP188	-	NULL		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131768567	1	no_errors	ENST00000372577	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131768567	C	T	131768567	4	4	84	1	0	0	0	0	0	1	0	0	10782	827	29	1	5163	1	NUP188	9	131768567	Nonsense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	7	131768567	9444864	60	12723	68	2								
RAPGEF1	2889	genome.wustl.edu	37	chr9	134458080	134458080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtcgatcagtgtgcagtactCggccaggccctggcaggaca	14	12	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:134458080C>T	ENST00000372189.3	-	22	2989	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E973K|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E974K	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	956	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCAGTACTCGGCCAGGCCC	0.657																																																	0													57	70	66					9																	134458080		2104	4214	6318	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2866G>A	9.37:g.134458080C>T	ENSP00000361263:p.Glu956Lys		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E974K	ENST00000372189.3	37	c.2920	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.393626	0.96009	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.30714	1.52;1.52;1.52	4.93	4.93	0.64822	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.50311	-0.8843	10	0.49607	T	0.09	.	16.6966	0.85337	0.0:1.0:0.0:0.0	.	956;974	Q13905;Q13905-3	RPGF1_HUMAN;.	K	956;973;902;956;974;936;934;973	ENSP00000361269:E973K;ENSP00000361263:E956K;ENSP00000361264:E974K	ENSP00000266110:E956K	E	-	1	0	RAPGEF1	133447901	1.000000	0.71417	0.944000	0.38274	0.977000	0.68977	7.441000	0.80485	2.276000	0.75962	0.561000	0.74099	GAG	RAPGEF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	C	NM_005312		134458080	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	0.999	T	T	134458080	C	T	134458080	3	4	84	1	0	0	0	0	1	0	0	0	13073	893	31	1	379	1	RAPGEF1	9	134458080	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	2689513	134458080	6755351	61	12724										
ITIH5	80760	genome.wustl.edu	37	chr10	7679252	7679252	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ggcagcacctccagggatgcGatgcccgcgctctccaggat	13	15	1	0	rs369114884		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:7679252G>A	ENST00000256861.6	-	5	669	c.591C>T	c.(589-591)atC>atT	p.I197I	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I197I|ITIH5_ENST00000397145.2_Silent_p.I197I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	197					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCAGGGATGCGATGCCCGCGC	0.657																																																	0													74	75	75					10																	7679252		2203	4300	6503	SO:0001819	synonymous_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.591C>T	10.37:g.7679252G>A			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I197	ENST00000256861.6	37	c.591		10																																																																																			ITIH5	-	NULL		0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7679252	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	silent	SNP	0.049	A	A	7679252	G	A	7679252	2	1	84	1	0	0	0	0	0	0	0	1	7927	1048	37	1		1	ITIH5	10	7679252	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		7679252	127855495	62	12725										
FAM171A1	221061	genome.wustl.edu	37	chr10	15255634	15255634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gggctccactcccgggtgccCgcatcctgcaggtgctgctg	14	16	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:15255634C>T	ENST00000378116.4	-	8	1959	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGGGTGCCCGCATCCTGCA	0.622																																																	0													47	54	52					10																	15255634		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1953G>A	10.37:g.15255634C>T			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.A651	ENST00000378116.4	37	c.1953	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.622	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15255634	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	0.472	T	T	15255634	C	T	15255634	2	4	84	1	0	0	0	0	0	0	0	1	5505	639	23	2		2	FAM171A1	10	15255634	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	7576382	15255634	120279113	63	12726										
C10orf140	387640	genome.wustl.edu	37	chr10	21806653	21806653	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	atgtttttcagcagatctgtGaagacttgggagagggcaaa	13	5	2	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:21806653G>A	ENST00000449193.2	-	4	2351	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.F33F	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	33						nucleus (GO:0005634)											GCAGATCTGTGAAGACTTGGG	0.512																																																	0													69	69	69					10																	21806653		2022	4181	6203	SO:0001819	synonymous_variant	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.99C>T	10.37:g.21806653G>A			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.F33	ENST00000449193.2	37	c.99	CCDS44363.1	10																																																																																			SKIDA1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.512	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	G	NM_207371		21806653	-1	no_errors	ENST00000449193	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21806653	G	A	21806653	2	1	84	1	0	0	0	0	0	0	0	1	1599	1281	45	1		1	C10orf140	10	21806653	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	6551019	21806653	113728094	64	12727										
PARD3	56288	genome.wustl.edu	37	chr10	34400467	34400467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cccaagagtcctgggagaccGagctggcatttttcctgctt	11	12	0	2	rs377613171		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:34400467G>A	ENST00000374789.3	-	25	4026	c.3701C>T	c.(3700-3702)tCg>tTg	p.S1234L	PARD3_ENST00000545260.1_Missense_Mutation_p.S1144L|PARD3_ENST00000545693.1_Missense_Mutation_p.S1218L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1197L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1188L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1231L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1122L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1174L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1234					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGGGAGACCGAGCTGGCATT	0.557																																																	0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	49	51	50		3692,3653,3590,3563,3452,3431,3365,3701	5	0.8	10		50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_019619.3	145,145,145,145,145,145,145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1231/1354,1218/1341,1197/1320,1188/1311,1151/1274,1144/1267,1122/1245,1234/1357	34400467	2,13004	2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3701C>T	10.37:g.34400467G>A	ENSP00000363921:p.Ser1234Leu		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1234L	ENST00000374789.3	37	c.3701	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182505	0.57800	0.0	2.33E-4	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.14391	2.53;2.52;2.59;2.59;2.57;2.51;2.52;2.53	5.87	4.96	0.65561	.	0.289683	0.40640	N	0.001050	T	0.13798	0.0334	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;P;P	0.46784	0.884;0.531;0.884;0.884;0.884;0.884;0.884;0.816	B;B;B;B;B;B;B;B	0.37267	0.245;0.057;0.245;0.245;0.245;0.245;0.245;0.124	T	0.02109	-1.1212	10	0.59425	D	0.04	.	16.933	0.86196	0.0:0.1379:0.8621:0.0	.	1122;1144;1151;1188;1218;1197;1231;1234	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	L	1218;1144;1234;1231;1197;1122;1188;1174	ENSP00000443147:S1218L;ENSP00000440857:S1144L;ENSP00000363921:S1234L;ENSP00000363920:S1231L;ENSP00000340591:S1197L;ENSP00000363926:S1122L;ENSP00000311986:S1188L;ENSP00000363922:S1174L	ENSP00000340591:S1197L	S	-	2	0	PARD3	34440473	1.000000	0.71417	0.822000	0.32727	0.983000	0.72400	6.310000	0.72830	1.594000	0.50039	0.655000	0.94253	TCG	PARD3	-	NULL		0.557	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34400467	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	0.995	A	A	34400467	G	A	34400467	3	1	84	1	0	0	0	0	1	0	0	0	11467	1059	37	1	373	1	PARD3	10	34400467	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	12593814	34400467	101134280	65	12728										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72503424	72503424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cccatacagcgtctgtgcgcGtggcgagtgtgtggtgggtg	18	9	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:72503424G>A	ENST00000373207.1	+	13	2045	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R685H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	682	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTCTGTGCGCGTGGCGAGTGT	0.647																																																	0													80	57	65					10																	72503424		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2045G>A	10.37:g.72503424G>A	ENSP00000362303:p.Arg682His		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R685H	ENST00000373207.1	37	c.2054	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908127	0.92107	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.68903	-0.36;-0.36	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.79919	0.4529	M	0.62723	1.935	0.46901	D	0.999244	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.972;0.972	T	0.78989	-0.1986	10	0.41790	T	0.15	.	17.9354	0.89011	0.0:0.0:1.0:0.0	.	615;682;685	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	H	685;682	ENSP00000362304:R685H;ENSP00000362303:R682H	ENSP00000362303:R682H	R	+	2	0	ADAMTS14	72173430	1.000000	0.71417	0.915000	0.36163	0.740000	0.42216	9.657000	0.98554	2.550000	0.86006	0.655000	0.94253	CGT	ADAMTS14	-	prints_Peptidase_M12B_ADAM-TS		0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72503424	1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.994	A	A	72503424	G	A	72503424	3	1	84	1	0	0	0	0	1	0	0	0	259	1145	40	2	2104	2	ADAMTS14	10	72503424	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	38102957	72503424	63031323	66	12729										
CPEB3	22849	genome.wustl.edu	37	chr10	93904785	93904785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ccccattttgacagcgagtgGgagaacttaagccagatgac	11	10	0	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:93904785G>A	ENST00000265997.4	-	5	1452	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	CPEB3_ENST00000412050.4_Missense_Mutation_p.P413L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	427					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACAGCGAGTGGGAGAACTTAA	0.448																																																	0													120	107	111					10																	93904785		2203	4300	6503	SO:0001583	missense	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1280C>T	10.37:g.93904785G>A	ENSP00000265997:p.Pro427Leu		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P427L	ENST00000265997.4	37	c.1280	CCDS31246.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281280	0.80692	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.47528	0.84;0.87	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.58810	1.83	0.80722	D	1	D;P;D	0.55605	0.972;0.9;0.969	P;B;P	0.55087	0.621;0.436;0.768	T	0.63400	-0.6646	10	0.66056	D	0.02	-9.7498	19.6327	0.95717	0.0:0.0:1.0:0.0	.	427;413;413	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	L	413;413;427	ENSP00000398310:P413L;ENSP00000265997:P427L	ENSP00000265997:P427L	P	-	2	0	CPEB3	93894765	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.732000	0.98816	2.643000	0.89663	0.655000	0.94253	CCC	CPEB3	-	NULL		0.448	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	G	NM_014912		93904785	-1	no_errors	ENST00000265997	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93904785	G	A	93904785	3	1	84	1	0	0	0	0	1	0	0	0	3807	1232	43	4	840	4	CPEB3	10	93904785	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	21401361	93904785	41629962	67	12730										
DNTT	1791	genome.wustl.edu	37	chr10	98080494	98080494	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ttcacaatcatcagtatgaaGgacacagaaggaattccctg	8	9	3	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:98080494G>C	ENST00000371174.2	+	4	729	c.627G>C	c.(625-627)aaG>aaC	p.K209N	DNTT_ENST00000419175.1_Missense_Mutation_p.K209N			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	209	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCAGTATGAAGGACACAGAAG	0.443																																																	0													134	135	134					10																	98080494		2203	4300	6503	SO:0001583	missense	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.627G>C	10.37:g.98080494G>C	ENSP00000360216:p.Lys209Asn		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.K209N	ENST00000371174.2	37	c.627	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908598	0.33721	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.45668	0.89;0.89	5.19	1.74	0.24563	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.351666	0.36034	N	0.002836	T	0.36524	0.0970	M	0.65975	2.015	0.39042	D	0.960149	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.22765	-1.0207	10	0.36615	T	0.2	-4.7923	7.3613	0.26748	0.36:0.0:0.64:0.0	.	209;209	P04053-2;P04053	.;TDT_HUMAN	N	209	ENSP00000401169:K209N;ENSP00000360216:K209N	ENSP00000360216:K209N	K	+	3	2	DNTT	98070484	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.600000	0.24104	0.662000	0.31006	0.555000	0.69702	AAG	DNTT	-	superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase		0.443	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	G	NM_004088		98080494	1	no_errors	ENST00000371174	ensembl	human	known	70_37	missense	SNP	0.998	C	C	98080494	G	C	98080494	3	2	84	1	0	0	0	0	1	0	0	0	4690	991	35	4	641	4	DNTT	10	98080494	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	4175709	98080494	37454253	68	12731										
CALHM1	255022	genome.wustl.edu	37	chr10	105215352	105215352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcaaaggctttggcgtgctcCgtgcacgtctcgtcgaagag	14	11	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:105215352C>T	ENST00000329905.5	-	2	844	c.708G>A	c.(706-708)acG>acA	p.T236T	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	236					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGCGTGCTCCGTGCACGTCT	0.607																																																	0													90	71	77					10																	105215352		2203	4300	6503	SO:0001819	synonymous_variant	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.708G>A	10.37:g.105215352C>T			Q5W091	Silent	SNP	NULL	p.T236	ENST00000329905.5	37	c.708	CCDS7550.1	10																																																																																			CALHM1	-	NULL		0.607	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	HGNC	protein_coding	OTTHUMT00000050165.1	C	NM_001001412		105215352	-1	no_errors	ENST00000329905	ensembl	human	known	70_37	silent	SNP	0.078	T	T	105215352	C	T	105215352	2	4	84	1	0	0	0	0	0	0	0	1	2587	639	23	2		2	CALHM1	10	105215352	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	7134858	105215352	30319395	69	12732										
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118359565	118359565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	atttgttttcccaggaacccGggactttgtggcttgcaatc	10	10	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:118359565G>T	ENST00000528052.1	+	9	892	c.821G>T	c.(820-822)cGg>cTg	p.R274L	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274L|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	274					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCAGGAACCCGGGACTTTGTG	0.488																																																	0													110	115	113					10																	118359565		2203	4300	6503	SO:0001583	missense	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.821G>T	10.37:g.118359565G>T	ENSP00000433933:p.Arg274Leu		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.R274L	ENST00000528052.1	37	c.821	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229651	0.22542	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.90844	-2.74;-2.74;-2.74	5.22	0.202	0.15190	Lipase, N-terminal (1);	0.505731	0.18928	N	0.127291	D	0.87553	0.6206	M	0.71581	2.175	0.80722	D	1	B	0.22746	0.074	B	0.23275	0.045	T	0.79022	-0.1973	10	0.45353	T	0.12	-2.8247	8.8504	0.35196	0.3956:0.0:0.6044:0.0	.	274	P54315	LIPR1_HUMAN	L	274	ENSP00000351695:R274L;ENSP00000433933:R274L;ENSP00000434159:R274L	ENSP00000351695:R274L	R	+	2	0	PNLIPRP1	118349555	1.000000	0.71417	0.939000	0.37840	0.963000	0.63663	1.082000	0.30803	-0.149000	0.11215	-0.126000	0.14955	CGG	PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	G	NM_006229		118359565	1	no_errors	ENST00000358834	ensembl	human	known	70_37	missense	SNP	0.996	T	T	118359565	G	T	118359565	3	4	84	1	0	0	0	0	1	0	0	0	12174	1116	39	2	851	2	PNLIPRP1	10	118359565	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	13144213	118359565	17175182	70	12733										
ATHL1	80162	genome.wustl.edu	37	chr11	290393	290393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cgcttctgcctccccaggctCctttcttcacaccctggagg	8	18	3	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:290393C>T	ENST00000409548.2	+	3	378	c.263C>T	c.(262-264)tCc>tTc	p.S88F	RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409655.1_5'UTR|RP11-326C3.2_ENST00000533924.1_RNA|ATHL1_ENST00000409479.1_Missense_Mutation_p.S88F	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	88					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCAGGCTCCTTTCTTCAC	0.662																																																	0													6	7	7					11																	290393		690	1569	2259	SO:0001583	missense	80162			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.263C>T	11.37:g.290393C>T	ENSP00000387185:p.Ser88Phe		Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.S88F	ENST00000409548.2	37	c.263	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882878	0.72410	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	T	0.33294	0.0858	L	0.51422	1.61	0.31581	N	0.655128	P;B	0.46952	0.887;0.042	B;B	0.35688	0.208;0.032	T	0.38200	-0.9672	8	0.14656	T	0.56	.	15.466	0.75400	0.0:1.0:0.0:0.0	.	88;88	Q32M88;E7EMA9	ATHL1_HUMAN;.	F	88	.	ENSP00000387099:S88F	S	+	2	0	ATHL1	280393	0.935000	0.31712	1.000000	0.80357	0.802000	0.45316	1.835000	0.39181	1.950000	0.56595	0.561000	0.74099	TCC	ATHL1	-	NULL		0.662	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	C	NM_025092		290393	1	no_errors	ENST00000409548	ensembl	human	known	70_37	missense	SNP	0.989	T	T	290393	C	T	290393	3	4	84	1	0	0	0	0	1	0	0	0	1105	855	30	1	269	1	ATHL1	11	290393	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		290393	134716123	71	12734										
OSBPL5	114879	genome.wustl.edu	37	chr11	3124503	3124503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	agaagccagacaggtaccacCgcagcaccagcttcatgcgg	11	14	1	2	rs367840281		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:3124503C>T	ENST00000263650.7	-	11	1451	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	OSBPL5_ENST00000525498.1_Missense_Mutation_p.R342Q|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R62Q|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R363Q|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R363Q	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	431					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGGTACCACCGCAGCACCAG	0.687																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	1,4403		0,1,2201	44	39	40		1088,1292,1088	1.1	0.6	11		40	1,8593		0,1,4296	no	missense,missense,missense	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	43,43,43	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	363/812,431/880,363/812	3124503	2,12996	2202	4297	6499	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1292G>A	11.37:g.3124503C>T	ENSP00000263650:p.Arg431Gln		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R431Q	ENST00000263650.7	37	c.1292	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581254	0.28180	2.27E-4	1.16E-4	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.03	1.09	0.20402	.	0.071260	0.53938	N	0.000055	T	0.20861	0.0502	L	0.42581	1.335	0.37995	D	0.934059	B;B;B;B	0.22211	0.058;0.058;0.066;0.03	B;B;B;B	0.21360	0.01;0.023;0.034;0.015	T	0.12167	-1.0558	10	0.17832	T	0.49	0.7912	7.8652	0.29533	0.0:0.6641:0.0:0.3359	.	342;392;363;431	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	Q	431;363;342;62;363;50	ENSP00000263650:R431Q;ENSP00000374639:R363Q;ENSP00000433342:R342Q;ENSP00000441551:R62Q;ENSP00000302872:R363Q	ENSP00000263650:R431Q	R	-	2	0	OSBPL5	3081079	0.000000	0.05858	0.577000	0.28562	0.961000	0.63080	-0.472000	0.06623	0.047000	0.15862	-0.263000	0.10527	CGG	OSBPL5	-	pfam_Oxysterol-bd		0.687	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3124503	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	0.818	T	T	3124503	C	T	3124503	3	4	84	1	0	0	0	0	1	0	0	0	11304	652	23	2	1395	2	OSBPL5	11	3124503	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	2834110	3124503	131882013	72	12735										
NUP98	4928	genome.wustl.edu	37	chr11	3740767	3740767	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ttcacatctccttcaaaataGattgaaccataacctataaa	2	10	3	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:3740767G>C	ENST00000324932.7	-	18	2694	c.2274C>G	c.(2272-2274)atC>atG	p.I758M	NUP98_ENST00000355260.3_Missense_Mutation_p.I758M|NUP98_ENST00000359171.4_Missense_Mutation_p.I758M|NUP98_ENST00000397004.4_Missense_Mutation_p.I758M|NUP98_ENST00000397007.4_Missense_Mutation_p.I775M	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	775	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCAAAATAGATTGAACCAT	0.308			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													55	53	54					11																	3740767		2201	4294	6495	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2274C>G	11.37:g.3740767G>C	ENSP00000316032:p.Ile758Met		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.I758M	ENST00000324932.7	37	c.2274	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274405	0.59649	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	3.43	0.39272	.	0.055226	0.64402	D	0.000001	T	0.77465	0.4134	M	0.88842	2.985	0.39932	D	0.9743	D;D;D;D	0.89917	0.988;0.975;1.0;0.996	P;P;D;D	0.74348	0.884;0.783;0.983;0.976	T	0.78615	-0.2135	9	0.87932	D	0	.	5.072	0.14611	0.1683:0.0:0.6364:0.1953	.	775;758;758;758	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	M	758;758;758;758;775	.	ENSP00000316032:I758M	I	-	3	3	NUP98	3697343	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.359000	0.20233	1.197000	0.43143	0.563000	0.77884	ATC	NUP98	-	pfam_Peptidase_S59,superfamily_Peptidase_S59		0.308	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3740767	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3740767	G	C	3740767	3	2	84	1	0	0	0	0	1	0	0	0	10797	932	33	1	3213	1	NUP98	11	3740767	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	616264	3740767	131265749	73	12736										
OR4C11	219429	genome.wustl.edu	37	chr11	55371330	55371330	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ctgcaaatcacagcaataatGatcaatcaaatagggtccac	6	10	3	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:55371330G>A	ENST00000302231.4	-	1	544	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGCAATAATGATCAATCAAA	0.438																																																	0													74	63	67					11																	55371330		2177	4011	6188	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.520C>T	11.37:g.55371330G>A	ENSP00000306651:p.His174Tyr		B9EIL4|Q8NGL8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H174Y	ENST00000302231.4	37	c.520	CCDS31503.1	11	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249894	0.39797	.	.	ENSG00000172188	ENST00000302231	T	0.00183	8.6	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	U	0.000117	T	0.00496	0.0016	M	0.88105	2.93	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.38478	-0.9659	10	0.87932	D	0	.	4.1414	0.10194	0.194:0.0:0.6219:0.1842	.	174	Q6IEV9	OR4CB_HUMAN	Y	174	ENSP00000306651:H174Y	ENSP00000306651:H174Y	H	-	1	0	OR4C11	55127906	0.001000	0.12720	0.994000	0.49952	0.794000	0.44872	0.777000	0.26718	1.190000	0.43042	0.478000	0.44815	CAT	OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	G	NM_001004700		55371330	-1	no_errors	ENST00000302231	ensembl	human	known	70_37	missense	SNP	0.003	A	A	55371330	G	A	55371330	3	1	84	1	0	0	0	0	1	0	0	0	11069	1290	45	1	414	1	OR4C11	11	55371330	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	51630563	55371330	79635186	74	12737										
FKBP2	2286	genome.wustl.edu	37	chr11	64011488	64011488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gctgctcaaaatagagcgacGaactgagctgtaaccagact	10	10	1	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:64011488G>T	ENST00000394540.3	+	6	886	c.416G>T	c.(415-417)cGa>cTa	p.R139L	FKBP2_ENST00000309366.4_Missense_Mutation_p.R139L|FKBP2_ENST00000449942.2_Missense_Mutation_p.R139L|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	139					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						ATAGAGCGACGAACTGAGCTG	0.527																																																	0													74	76	75					11																	64011488		2201	4297	6498	SO:0001583	missense	2286			M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"FK506 binding protein 2 (13kD)", "peptidyl-prolyl cis-trans isomerase", "rapamycin-binding protein", "proline isomerase"	186946	"FK506-binding protein 2 (13kD)"			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.416G>T	11.37:g.64011488G>T	ENSP00000378046:p.Arg139Leu		Q5BJH9|Q9BTS7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.R139L	ENST00000394540.3	37	c.416	CCDS8063.1	11	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280983	0.23392	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000394540	T;T;T	0.54071	0.59;0.59;0.59	4.07	3.15	0.36227	.	0.161142	0.33959	N	0.004387	T	0.46464	0.1394	M	0.64170	1.965	0.30566	N	0.763992	P	0.38745	0.645	B	0.34242	0.178	T	0.55354	-0.8154	10	0.62326	D	0.03	-1.4673	10.842	0.46722	0.0965:0.0:0.9035:0.0	.	139	P26885	FKBP2_HUMAN	L	139	ENSP00000310935:R139L;ENSP00000398147:R139L;ENSP00000378046:R139L	ENSP00000310935:R139L	R	+	2	0	FKBP2	63768064	1.000000	0.71417	0.256000	0.24389	0.363000	0.29612	5.539000	0.67199	0.834000	0.34852	0.407000	0.27541	CGA	FKBP2	-	NULL		0.527	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP2	HGNC	protein_coding	OTTHUMT00000396401.2	G	NM_004470		64011488	1	no_errors	ENST00000309366	ensembl	human	known	70_37	missense	SNP	0.238	T	T	64011488	G	T	64011488	3	4	84	1	0	0	0	0	1	0	0	0	5926	1058	37	3	434	3	FKBP2	11	64011488	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	8640158	64011488	70995028	75	12738										
NPAS4	266743	genome.wustl.edu	37	chr11	66192248	66192248	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cactactctgaaaaggagcaGaatgagatagaccgtctcat	9	9	2	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:66192248G>T	ENST00000311034.2	+	7	2063	c.1887G>T	c.(1885-1887)caG>caT	p.Q629H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	629					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.Q629H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AAAAGGAGCAGAATGAGATAG	0.572																																																	1	Substitution - Missense(1)	lung(1)											117	119	118					11																	66192248		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1887G>T	11.37:g.66192248G>T	ENSP00000311196:p.Gln629His		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.Q629H	ENST00000311034.2	37	c.1887	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536482	0.13188	.	.	ENSG00000174576	ENST00000311034	T	0.46063	0.88	4.39	-0.933	0.10431	.	0.122857	0.37178	N	0.002219	T	0.18257	0.0438	N	0.08118	0	0.26108	N	0.980726	P	0.39964	0.697	B	0.35510	0.204	T	0.20605	-1.0270	10	0.56958	D	0.05	-8.6715	9.1319	0.36850	0.4319:0.0:0.5681:0.0	.	629	Q8IUM7	NPAS4_HUMAN	H	629	ENSP00000311196:Q629H	ENSP00000311196:Q629H	Q	+	3	2	NPAS4	65948824	0.998000	0.40836	0.812000	0.32479	0.498000	0.33706	0.950000	0.29122	-0.038000	0.13624	-0.140000	0.14226	CAG	NPAS4	-	NULL		0.572	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66192248	1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	0.634	T	T	66192248	G	T	66192248	3	4	84	1	0	0	0	0	1	0	0	0	10589	933	33	3	1913	3	NPAS4	11	66192248	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	2180760	66192248	68814268	76	12739										
PITPNM1	9600	genome.wustl.edu	37	chr11	67260519	67260519	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ggagacccataaccggccacGatgttcagttctacctgtgg	11	12	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:67260519G>A	ENST00000534749.1	-	22	3545	c.3357C>T	c.(3355-3357)atC>atT	p.I1119I	PITPNM1_ENST00000356404.3_Silent_p.I1119I|PITPNM1_ENST00000436757.2_Silent_p.I1118I|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1119					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AACCGGCCACGATGTTCAGTT	0.647																																					GBM(28;144 709 4607 5525)												0													101	109	106					11																	67260519		2200	4295	6495	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3357C>T	11.37:g.67260519G>A			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.I1119	ENST00000534749.1	37	c.3357	CCDS31620.1	11																																																																																			PITPNM1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	G	NM_004910		67260519	-1	no_errors	ENST00000356404	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67260519	G	A	67260519	2	1	84	1	0	0	0	0	0	0	0	1	11974	1048	37	1		1	PITPNM1	11	67260519	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	1068271	67260519	67745997	77	12740										
SLC6A12	6539	genome.wustl.edu	37	chr12	318945	318945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	caaagtgaactcaccacctcCgtttttgtagcagagatagg	9	10	1	2	rs374785609		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:318945C>T	ENST00000428720.1	-	3	951	c.208G>A	c.(208-210)Gga>Aga	p.G70R	SLC6A12_ENST00000424061.2_Missense_Mutation_p.G70R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G70R|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G70R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G70R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	70					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCACCACCTCCGTTTTTGTAG	0.572																																																	0								C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	143	123	130		208,208,208,208	5.6	1	12		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	125,125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	70/615,70/615,70/615,70/615	318945	1,13005	2203	4300	6503	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.208G>A	12.37:g.318945C>T	ENSP00000388184:p.Gly70Arg		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.G70R	ENST00000428720.1	37	c.208	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.195919	0.94960	0.0	1.16E-4	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.97247	0.9100	H	0.99897	4.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99274	1.0894	10	0.87932	D	0	.	19.1214	0.93365	0.0:1.0:0.0:0.0	.	70	P48065	S6A12_HUMAN	R	70	ENSP00000352702:G70R;ENSP00000380464:G70R;ENSP00000388184:G70R;ENSP00000399136:G70R;ENSP00000444268:G70R;ENSP00000439351:G70R	ENSP00000352702:G70R	G	-	1	0	SLC6A12	189206	1.000000	0.71417	0.977000	0.42913	0.946000	0.59487	7.780000	0.85658	2.610000	0.88304	0.563000	0.77884	GGA	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.572	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	C	NM_003044		318945	-1	no_errors	ENST00000359674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	318945	C	T	318945	3	4	84	1	0	0	0	0	1	0	0	0	14705	661	23	2	1692	2	SLC6A12	12	318945	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		318945	133532950	78	12741										
FBXW8	26259	genome.wustl.edu	37	chr12	117465245	117465245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcagccacagcctcatcacgGccaacgtgccttaccagacg	9	17	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:117465245G>A	ENST00000309909.5	+	10	1670	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	FBXW8_ENST00000455858.2_Missense_Mutation_p.A464T			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	530					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCTCATCACGGCCAACGTGCC	0.602																																																	0													101	82	88					12																	117465245		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1588G>A	12.37:g.117465245G>A	ENSP00000310686:p.Ala530Thr		Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A530T	ENST00000309909.5	37	c.1588	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337435	0.81911	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.12465	2.68;2.76	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.76574	2.34	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.68039	0.904;0.955	T	0.13442	-1.0509	10	0.52906	T	0.07	-21.0708	18.4705	0.90773	0.0:0.0:1.0:0.0	.	530;464	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	T	530;464;464	ENSP00000310686:A530T;ENSP00000389144:A464T	ENSP00000310686:A530T	A	+	1	0	FBXW8	115949628	1.000000	0.71417	0.992000	0.48379	0.284000	0.27059	7.201000	0.77847	2.452000	0.82932	0.462000	0.41574	GCC	FBXW8	-	NULL		0.602	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	G	NM_012174		117465245	1	no_errors	ENST00000309909	ensembl	human	known	70_37	missense	SNP	0.999	A	A	117465245	G	A	117465245	3	1	84	1	0	0	0	0	1	0	0	0	5788	1203	42	4	1626	4	FBXW8	12	117465245	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	117146300	117465245	16386650	79	12742										
SIRT4	23409	genome.wustl.edu	37	chr12	120741408	120741408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tttcaggtcagcaaaaggccGttggatcgcaaaccccagcc	10	13	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:120741408G>A	ENST00000202967.4	+	2	103	c.44G>A	c.(43-45)cGt>cAt	p.R15H		NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAAAAGGCCGTTGGATCGCA	0.473																																																	0													93	98	96					12																	120741408		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.44G>A	12.37:g.120741408G>A	ENSP00000202967:p.Arg15His			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.R15H	ENST00000202967.4	37	c.44	CCDS9194.1	12	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530876	0.27387	.	.	ENSG00000089163	ENST00000202967	T	0.24350	1.86	4.99	-9.82	0.00484	.	2.391390	0.01051	N	0.004471	T	0.16085	0.0387	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12344	-1.0551	10	0.10636	T	0.68	0.1329	9.5102	0.39071	0.6232:0.0:0.1974:0.1794	.	15	Q9Y6E7	SIRT4_HUMAN	H	15	ENSP00000202967:R15H	ENSP00000202967:R15H	R	+	2	0	SIRT4	119225791	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-3.051000	0.00628	-2.646000	0.00426	-1.887000	0.00540	CGT	SIRT4	-	NULL		0.473	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	G	NM_012240		120741408	1	no_errors	ENST00000202967	ensembl	human	known	70_37	missense	SNP	0.000	A	A	120741408	G	A	120741408	3	1	84	1	0	0	0	0	1	0	0	0	14370	1145	40	2	46	2	SIRT4	12	120741408	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	3276163	120741408	13110487	80	12743										
GALNT9	50614	genome.wustl.edu	37	chr12	132905692	132905692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgcgcacgagctcctgggagCggccctgcaggcggcagtac	16	14	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:132905692C>T	ENST00000328957.8	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H	RP13-895J2.7_ENST00000537720.1_RNA	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	33					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCCTGGGAGCGGCCCTGCAG	0.672																																					Colon(186;2147 2752 13553 41466)												0													20	26	24					12																	132905692		691	1589	2280	SO:0001583	missense	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.98G>A	12.37:g.132905692C>T	ENSP00000329846:p.Arg33His		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R33H	ENST00000328957.8	37	c.98		12	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069055	0.55539	.	.	ENSG00000182870	ENST00000328957	T	0.54675	0.56	4.03	4.03	0.46877	.	0.308556	0.23189	U	0.050923	T	0.47673	0.1458	M	0.62723	1.935	0.80722	D	1	B;B	0.24483	0.104;0.012	B;B	0.12156	0.007;0.003	T	0.49173	-0.8967	10	0.44086	T	0.13	.	10.907	0.47086	0.0:0.906:0.0:0.094	.	33;33	B2RXG6;Q9HCQ5	.;GALT9_HUMAN	H	33	ENSP00000329846:R33H	ENSP00000329846:R33H	R	-	2	0	GALNT9	131415765	1.000000	0.71417	0.934000	0.37439	0.818000	0.46254	5.354000	0.66040	1.772000	0.52199	0.313000	0.20887	CGC	GALNT9	-	NULL		0.672	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	C	NM_001122636		132905692	-1	no_errors	ENST00000328957	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132905692	C	T	132905692	3	4	84	1	0	0	0	0	1	0	0	0	6239	768	27	2	1757	2	GALNT9	12	132905692	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	12164284	132905692	946203	81	12744										
RPL4	6124	genome.wustl.edu	37	chr15	66793301	66793301	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	acttacttgtagttactcttGagggaagcggctttacgcca	10	9	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:66793301G>C	ENST00000307961.6	-	7	911	c.819C>G	c.(817-819)ctC>ctG	p.L273L	RPL4_ENST00000568588.1_Silent_p.L179L|SNORD18A_ENST00000363753.1_RNA|SNORD16_ENST00000362803.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	273					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AGTTACTCTTGAGGGAAGCGG	0.388																																																	0													90	88	88					15																	66793301		2201	4299	6500	SO:0001819	synonymous_variant	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.819C>G	15.37:g.66793301G>C			A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.L273	ENST00000307961.6	37	c.819	CCDS10218.1	15																																																																																			RPL4	-	NULL		0.388	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	G	NM_000968		66793301	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	silent	SNP	0.993	C	C	66793301	G	C	66793301	2	2	84	1	0	0	0	0	0	0	0	1	13625	1277	45	1		1	RPL4	15	66793301	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		66793301	35738091	82	12745										
C15orf59	388135	genome.wustl.edu	37	chr15	74032525	74032525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tcctccacctcctgctcaccGtccccctcctcatcgtcaca	3	23	3	0	rs138360089		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:74032525G>A	ENST00000569673.1	-	3	1819	c.615C>T	c.(613-615)gaC>gaT	p.D205D	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.D205D			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	205										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						cctgctcaccgtccccctcct	0.652																																																	0								G		1,4395	2.1+/-5.4	0,1,2197	76	55	62		615	-10.3	0	15	dbSNP_134	62	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C15orf59	NM_001039614.1		0,2,6493	AA,AG,GG		0.0116,0.0227,0.0154		205/294	74032525	2,12988	2198	4297	6495	SO:0001819	synonymous_variant	388135				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.615C>T	15.37:g.74032525G>A				Silent	SNP	superfamily_Polyketide_synth_docking	p.D205	ENST00000569673.1	37	c.615	CCDS32289.1	15																																																																																			C15orf59	-	NULL		0.652	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf59	HGNC	protein_coding	OTTHUMT00000419077.2	G	NM_001039614		74032525	-1	no_errors	ENST00000379822	ensembl	human	known	70_37	silent	SNP	0.000	A	A	74032525	G	A	74032525	2	1	84	1	0	0	0	0	0	0	0	1	1811	1136	40	2		2	C15orf59	15	74032525	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	7239224	74032525	28498867	83	12746										
ZNF774	342132	genome.wustl.edu	37	chr15	90903469	90903469	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	agctggagtccttttcacagGagagggatttaaacaagctc	11	8	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:90903469G>T	ENST00000354377.3	+	4	592	c.406G>T	c.(406-408)Gag>Tag	p.E136*	ZNF774_ENST00000379090.5_Intron|ZNF774_ENST00000558115.1_3'UTR	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTTTCACAGGAGAGGGATTT	0.478																																																	0													55	59	58					15																	90903469		2199	4298	6497	SO:0001587	stop_gained	342132			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"Zinc fingers, C2H2-type"	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.406G>T	15.37:g.90903469G>T	ENSP00000346348:p.Glu136*		A8K020	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E136*	ENST00000354377.3	37	c.406	CCDS32330.1	15	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937337	0.73557	.	.	ENSG00000196391	ENST00000354377	.	.	.	5.24	4.33	0.51752	.	0.265778	0.20256	N	0.095962	.	.	.	.	.	.	0.30665	N	0.754015	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	7.9653	0.30095	0.1849:0.0:0.8151:0.0	.	.	.	.	X	136	.	ENSP00000346348:E136X	E	+	1	0	ZNF774	88704473	0.005000	0.15991	0.075000	0.20258	0.736000	0.42039	1.425000	0.34859	1.193000	0.43086	0.655000	0.94253	GAG	ZNF774	-	NULL		0.478	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF774	HGNC	protein_coding	OTTHUMT00000418048.1	G	NM_001004309		90903469	1	no_errors	ENST00000354377	ensembl	human	known	70_37	nonsense	SNP	0.500	T	T	90903469	G	T	90903469	4	4	84	1	0	0	0	0	0	1	0	0	18177	1175	41	3	416	3	ZNF774	15	90903469	Nonsense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	16870944	90903469	11627923	84	12747										
NR2F2	7026	genome.wustl.edu	37	chr15	96880708	96880708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gaaagcttttgcttcgcctcCcttccctccgcaccgtctcc	6	19	1	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:96880708C>A	ENST00000394166.3	+	3	2491	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	NR2F2_ENST00000394171.2_Missense_Mutation_p.P215T|NR2F2_ENST00000421109.2_Missense_Mutation_p.P235T|NR2F2_ENST00000453270.2_Missense_Mutation_p.P215T	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	368	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTTCGCCTCCCTTCCCTCCG	0.507																																																	0													161	146	151					15																	96880708		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1102C>A	15.37:g.96880708C>A	ENSP00000377721:p.Pro368Thr		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.P368T	ENST00000394166.3	37	c.1102	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552713	0.65425	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.96685	0.22;0.22;-4.09;-4.09	5.44	5.44	0.79542	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.97110	1.0;0.85	D	0.98243	1.0489	10	0.87932	D	0	.	19.6189	0.95647	0.0:1.0:0.0:0.0	.	368;235	P24468;Q3KQR7	COT2_HUMAN;.	T	235;368;215;215	ENSP00000401674:P235T;ENSP00000377721:P368T;ENSP00000377726:P215T;ENSP00000389853:P215T	ENSP00000377721:P368T	P	+	1	0	NR2F2	94681712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.698000	0.92095	0.650000	0.86243	CCT	NR2F2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt		0.507	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	C			96880708	1	no_errors	ENST00000394166	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96880708	C	A	96880708	3	1	84	1	0	0	0	0	1	0	0	0	10652	623	22	4	1159	4	NR2F2	15	96880708	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	5977239	96880708	5650684	85	12748										
BAIAP3	8938	genome.wustl.edu	37	chr16	1392188	1392188	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cctgtggtggccaggtacttCaaacagatcgtcaagtcagc	11	11	3	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr16:1392188C>G	ENST00000324385.5	+	11	1124	c.966C>G	c.(964-966)ttC>ttG	p.F322L	BAIAP3_ENST00000568887.1_Missense_Mutation_p.F259L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.F304L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.F304L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.F287L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.F264L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.F287L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	322					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCAGGTACTTCAAACAGATCG	0.637																																																	0													80	72	75					16																	1392188		2198	4300	6498	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.966C>G	16.37:g.1392188C>G	ENSP00000324510:p.Phe322Leu		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.F322L	ENST00000324385.5	37	c.966	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891141	0.52014	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.74002	-0.79;-0.8;-0.8;-0.8;-0.77	5.18	1.91	0.25777	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.116075	0.64402	N	0.000015	T	0.70386	0.3218	L	0.49571	1.57	0.58432	D	0.999994	D;D;P;P;P	0.58620	0.961;0.983;0.919;0.919;0.737	P;P;B;B;B	0.50970	0.655;0.606;0.324;0.324;0.24	T	0.64922	-0.6293	10	0.41790	T	0.15	-23.6137	5.6537	0.17631	0.0:0.6379:0.1608:0.2013	.	287;339;264;322;304	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	L	287;304;322;304;287	ENSP00000407242:F287L;ENSP00000380625:F304L;ENSP00000324510:F322L;ENSP00000380626:F304L;ENSP00000409533:F287L	ENSP00000324510:F322L	F	+	3	2	BAIAP3	1332189	1.000000	0.71417	0.997000	0.53966	0.787000	0.44495	1.105000	0.31086	0.133000	0.18654	0.579000	0.79373	TTC	BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.637	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392188	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1392188	C	G	1392188	3	3	84	1	0	0	0	0	1	0	0	0	1305	825	29	1	1008	1	BAIAP3	16	1392188	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		1392188	88962565	86	12749										
PLK1	5347	genome.wustl.edu	37	chr16	23695351	23695351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gaccattccaccaaggttttCgattgctcccagcagcctgg	9	14	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr16:23695351C>T	ENST00000300093.4	+	5	1088	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	326					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S326L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547																																					Colon(12;240 564 27038 33155)												1	Substitution - Missense(1)	large_intestine(1)											133	137	136					16																	23695351		2197	4300	6497	SO:0001583	missense	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.977C>T	16.37:g.23695351C>T	ENSP00000300093:p.Ser326Leu		Q15153|Q99746	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.S326L	ENST00000300093.4	37	c.977	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947513	0.73672	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.22539	1.95	5.28	5.28	0.74379	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	M	0.70595	2.14	0.80722	D	1	P	0.39520	0.676	B	0.27170	0.077	T	0.08086	-1.0739	10	0.48119	T	0.1	-9.6738	16.7603	0.85510	0.0:1.0:0.0:0.0	.	326	P53350	PLK1_HUMAN	L	326;229	ENSP00000300093:S326L	ENSP00000300093:S326L	S	+	2	0	PLK1	23602852	1.000000	0.71417	0.919000	0.36401	0.898000	0.52572	7.169000	0.77578	2.620000	0.88729	0.655000	0.94253	TCG	PLK1	-	superfamily_Kinase-like_dom		0.547	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK1	HGNC	protein_coding	OTTHUMT00000214057.2	C	NM_005030		23695351	1	no_errors	ENST00000300093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23695351	C	T	23695351	3	4	84	1	0	0	0	0	1	0	0	0	12118	893	31	1	995	1	PLK1	16	23695351	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	22303163	23695351	66659402	87	12750										
RSPRY1	89970	genome.wustl.edu	37	chr16	57264655	57264655	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gatttctgttagacttgaatGaaaagcaaatgatcttcttt	7	5	3	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr16:57264655G>A	ENST00000537866.1	+	12	2179	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E436K|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGACTTGAATGAAAAGCAAAT	0.373																																																	0													104	96	99					16																	57264655		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1306G>A	16.37:g.57264655G>A	ENSP00000443176:p.Glu436Lys		Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E436K	ENST00000537866.1	37	c.1306	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717939	0.30413	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.69561	-0.41;-0.41	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.046874	0.85682	D	0.000000	T	0.38134	0.1029	N	0.03000	-0.44	0.54753	D	0.999989	B	0.02656	0.0	B	0.08055	0.003	T	0.42464	-0.9450	10	0.02654	T	1	.	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	436	Q96DX4	RSPRY_HUMAN	K	436	ENSP00000377942:E436K;ENSP00000443176:E436K	ENSP00000377942:E436K	E	+	1	0	RSPRY1	55822156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.275000	0.78548	2.835000	0.97688	0.650000	0.86243	GAA	RSPRY1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.373	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	G	NM_133368		57264655	1	no_errors	ENST00000394420	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57264655	G	A	57264655	3	1	84	1	0	0	0	0	1	0	0	0	13743	1291	45	1	1348	1	RSPRY1	16	57264655	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	33569304	57264655	33090098	88	12751										
ALDH3A1	218	genome.wustl.edu	37	chr17	19642955	19642955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ctcctcttgcatcaccggggActgggggtccacgtccgtga	13	14	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:19642955A>G	ENST00000457500.2	-	7	1311	c.982T>C	c.(982-984)Tcc>Ccc	p.S328P	ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.S255P|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.S328P|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.S328P|RP11-311F12.2_ENST00000580884.1_RNA	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	328					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		ATCACCGGGGACTGGGGGTCC	0.637																																																	0													47	44	45					17																	19642955		2203	4300	6503	SO:0001583	missense	218			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.982T>C	17.37:g.19642955A>G	ENSP00000411821:p.Ser328Pro		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.S328P	ENST00000457500.2	37	c.982	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778177	0.70107	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.82	3.73	0.42828	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.104998	0.64402	D	0.000002	D	0.89206	0.6649	M	0.92604	3.325	0.58432	D	0.999995	D;D;D	0.76494	0.991;0.999;0.991	D;D;D	0.70227	0.952;0.968;0.952	D	0.89579	0.3819	10	0.66056	D	0.02	-8.2628	10.9794	0.47486	0.8432:0.1568:0.0:0.0	.	328;445;328	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	P	328;386;328;328;255;328	ENSP00000225740:S328P;ENSP00000388469:S328P;ENSP00000411821:S328P;ENSP00000389766:S328P	ENSP00000225740:S328P	S	-	1	0	ALDH3A1	19583547	0.958000	0.32768	0.996000	0.52242	0.680000	0.39746	2.181000	0.42547	0.683000	0.31428	-0.313000	0.08912	TCC	ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.637	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4	A	NM_000691		19642955	-1	no_errors	ENST00000225740	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19642955	A	G	19642955	3	3	84	1	0	0	0	0	1	0	0	0	497	275	10	5	395	5	ALDH3A1	17	19642955	Missense_Mutation	SNP	A	TCGA-EA-A50E-01A-21D-A26G-09		19642955	61552255	89	12752										
TMEM98	26022	genome.wustl.edu	37	chr17	31260324	31260324	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gactggatcgaagatgcctcGtaaggccatgggaactgttt	13	8	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:31260324G>A	ENST00000579849.1	+	4	694		c.e4+1		TMEM98_ENST00000578289.1_Splice_Site|TMEM98_ENST00000394642.3_Splice_Site	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGATGCCTCGTAAGGCCATG	0.517																																																	0													134	121	126					17																	31260324		2203	4300	6503	SO:0001630	splice_region_variant	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.263+1G>A	17.37:g.31260324G>A			E1P631|Q9UFK2	Splice_Site	SNP	-	e2+1	ENST00000579849.1	37	c.263+1	CCDS11274.1	17	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271281	0.23221	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	.	.	.	5.31	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7459	0.62874	0.0:0.1554:0.8446:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM98	28284437	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.142000	0.94618	0.860000	0.35481	-0.256000	0.11100	.	TMEM98	-	-		0.517	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	G	NM_015544	Intron	31260324	1	no_errors	ENST00000394642	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	31260324	G	A	31260324	5	1	84	1	0	0	0	0	0	0	1	0	16255	1159	40	2	270	2	TMEM98	17	31260324	Splice_Site	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	11617369	31260324	49934886	90	12753										
CDC6	990	genome.wustl.edu	37	chr17	38457833	38457833	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aggggcattttaggattaaaGagaaacaaggaaacccgttt	11	5	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:38457833G>C	ENST00000209728.4	+	11	2037	c.1566G>C	c.(1564-1566)aaG>aaC	p.K522N	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	522					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TAGGATTAAAGAGAAACAAGG	0.418																																																	0													129	140	136					17																	38457833		2203	4300	6503	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1566G>C	17.37:g.38457833G>C	ENSP00000209728:p.Lys522Asn		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.K522N	ENST00000209728.4	37	c.1566	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828183	0.71143	.	.	ENSG00000094804	ENST00000209728	T	0.44881	0.91	5.81	4.83	0.62350	Winged helix-turn-helix transcription repressor DNA-binding (1);CDC6, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.78916	2.43	0.50313	D	0.999861	D	0.89917	1.0	D	0.85130	0.997	T	0.62101	-0.6925	10	0.39692	T	0.17	-5.7866	14.7926	0.69854	0.0744:0.0:0.9256:0.0	.	522	Q99741	CDC6_HUMAN	N	522	ENSP00000209728:K522N	ENSP00000209728:K522N	K	+	3	2	CDC6	35711359	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.389000	0.66255	2.906000	0.99361	0.655000	0.94253	AAG	CDC6	-	pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6/18		0.418	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	G			38457833	1	no_errors	ENST00000209728	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38457833	G	C	38457833	3	2	84	1	0	0	0	0	1	0	0	0	3088	933	33	1	1604	1	CDC6	17	38457833	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	7197509	38457833	42737377	91	12754										
KCNH4	23415	genome.wustl.edu	37	chr17	40328267	40328267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gaggcagcgagacccccccaCggaggccaccttgtactcgg	13	16	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:40328267C>T	ENST00000264661.3	-	5	966	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	KCNH4_ENST00000607371.1_Missense_Mutation_p.V212M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	212					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCCCCCCACGGAGGCCACC	0.617																																					NSCLC(117;707 1703 2300 21308 31858)												0													99	105	103					17																	40328267		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.634G>A	17.37:g.40328267C>T	ENSP00000264661:p.Val212Met			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.V212M	ENST00000264661.3	37	c.634	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254122	0.80135	.	.	ENSG00000089558	ENST00000264661	D	0.98807	-5.15	5.45	5.45	0.79879	.	0.000000	0.36854	N	0.002368	D	0.97974	0.9333	M	0.65498	2.005	0.51233	D	0.999917	D	0.54397	0.966	P	0.48400	0.576	D	0.97431	1.0015	10	0.51188	T	0.08	.	13.7121	0.62674	0.0:0.9268:0.0:0.0732	.	212	Q9UQ05	KCNH4_HUMAN	M	212	ENSP00000264661:V212M	ENSP00000264661:V212M	V	-	1	0	KCNH4	37581793	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.898000	0.56281	2.840000	0.97914	0.655000	0.94253	GTG	KCNH4	-	NULL		0.617	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	C	NM_012285		40328267	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40328267	C	T	40328267	3	4	84	1	0	0	0	0	1	0	0	0	8054	536	19	2	2467	2	KCNH4	17	40328267	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	1870434	40328267	40866943	92	12755										
EZH1	2145	genome.wustl.edu	37	chr17	40870628	40870628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtctgacatctctgttagttCtcgatacctatttaagaaaa	6	8	3	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:40870628C>G	ENST00000428826.2	-	9	896	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q	EZH1_ENST00000415827.2_Missense_Mutation_p.E250Q|EZH1_ENST00000435174.1_Missense_Mutation_p.E120Q|EZH1_ENST00000585893.1_Missense_Mutation_p.E219Q|EZH1_ENST00000590078.1_Missense_Mutation_p.E189Q|EZH1_ENST00000592743.1_Missense_Mutation_p.E259Q			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	259					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTGTTAGTTCTCGATACCTA	0.502																																																	0													109	109	109					17																	40870628		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.775G>C	17.37:g.40870628C>G	ENSP00000404658:p.Glu259Gln		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.E259Q	ENST00000428826.2	37	c.775	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.107484	0.97291	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.95001	-3.58;-3.54	4.8	4.8	0.61643	SANT domain, DNA binding (1);	0.049437	0.85682	D	0.000000	D	0.96658	0.8909	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.995;0.991	D;D;D;D	0.76575	0.97;0.988;0.988;0.973	D	0.96994	0.9724	10	0.72032	D	0.01	.	18.4444	0.90678	0.0:1.0:0.0:0.0	.	120;219;265;259	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	Q	262;259;219;120	ENSP00000404658:E259Q;ENSP00000404071:E120Q	ENSP00000264646:E262Q	E	-	1	0	EZH1	38124154	1.000000	0.71417	0.400000	0.26346	0.975000	0.68041	7.556000	0.82233	2.652000	0.90054	0.655000	0.94253	GAA	EZH1	-	smart_SANT/Myb		0.502	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40870628	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40870628	C	G	40870628	3	3	84	1	0	0	0	0	1	0	0	0	5345	922	32	1	1520	1	EZH1	17	40870628	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	542361	40870628	40324582	93	12756										
LPO	4025	genome.wustl.edu	37	chr17	56344897	56344897	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	aggggtcgggtggggcctctCctggcctgcctcttgggcaa	17	12	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:56344897C>A	ENST00000262290.4	+	12	2197	c.1881C>A	c.(1879-1881)ctC>ctA	p.L627L	LPO_ENST00000543544.1_Silent_p.L568L|LPO_ENST00000582328.1_Silent_p.L544L|LPO_ENST00000421678.2_Silent_p.L544L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	627					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGGGCCTCTCCTGGCCTGCC	0.617																																																	0													47	49	48					17																	56344897		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1881C>A	17.37:g.56344897C>A			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L627	ENST00000262290.4	37	c.1881	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.617	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56344897	1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56344897	C	A	56344897	2	1	84	1	0	0	0	0	0	0	0	1	8945	842	30	3		3	LPO	17	56344897	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	15474269	56344897	24850313	94	12757										
ZNF521	25925	genome.wustl.edu	37	chr18	22805688	22805688	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ctgaatggagacttttgagtCaaaaacttcctggcagaggg	12	7	1	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr18:22805688C>T	ENST00000361524.3	-	4	2342	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.D512N|ZNF521_ENST00000538137.2_Missense_Mutation_p.D732N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	732					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTTTTGAGTCAAAAACTTCC	0.468			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													70	72	71					18																	22805688		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2194G>A	18.37:g.22805688C>T	ENSP00000354794:p.Asp732Asn		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D732N	ENST00000361524.3	37	c.2194	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092829	0.36952	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.27256	1.68;3.01;1.68	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	N	0.02854	-0.475	0.52501	D	0.999958	D	0.89917	1.0	D	0.80764	0.994	T	0.40701	-0.9549	10	0.15066	T	0.55	-39.6653	20.8794	0.99867	0.0:1.0:0.0:0.0	.	732	Q96K83	ZN521_HUMAN	N	732;766;732	ENSP00000354794:D732N;ENSP00000440768:D766N;ENSP00000382352:D732N	ENSP00000354794:D732N	D	-	1	0	ZNF521	21059686	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22805688	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22805688	C	T	22805688	3	4	84	1	0	0	0	0	1	0	0	0	17995	826	29	1	1761	1	ZNF521	18	22805688	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		22805688	55271560	95	12758										
DCC	1630	genome.wustl.edu	37	chr18	50918205	50918205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ccaaaagacgtctgaggtgcGactttacaccgtccggtgga	12	11	1	2	rs369217461		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr18:50918205G>T	ENST00000442544.2	+	17	3252	c.2636G>T	c.(2635-2637)cGa>cTa	p.R879L	DCC_ENST00000412726.1_Missense_Mutation_p.R707L|DCC_ENST00000581580.1_Missense_Mutation_p.R514L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	879	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGAGGTGCGACTTTACACC	0.463																																																	0													118	109	112					18																	50918205		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2636G>T	18.37:g.50918205G>T	ENSP00000389140:p.Arg879Leu			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R879L	ENST00000442544.2	37	c.2636	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002519	0.54254	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.55760	0.5;0.5	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.76814	0.4040	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.996;0.996;1.0	D;D;D	0.91635	0.97;0.97;0.999	T	0.76732	-0.2851	10	0.30078	T	0.28	.	18.0078	0.89214	0.0:0.0:1.0:0.0	.	707;707;879	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	879;707	ENSP00000389140:R879L;ENSP00000397322:R707L	ENSP00000397322:R707L	R	+	2	0	DCC	49172203	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.682000	0.98655	2.531000	0.85337	0.557000	0.71058	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.463	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50918205	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50918205	G	T	50918205	3	4	84	1	0	0	0	0	1	0	0	0	4287	1058	37	3	2702	3	DCC	18	50918205	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	28112517	50918205	27159043	96	12759										
CNN2	1265	genome.wustl.edu	37	chr19	1032654	1032654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	acctgtttgagagtgggaacAtgacgcaggtgcaggtgtct	15	7	1	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:1032654A>G	ENST00000263097.4	+	4	712	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	CNN2_ENST00000565096.2_Missense_Mutation_p.M117V|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.M117V|CNN2_ENST00000562958.2_Missense_Mutation_p.M117V	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	117	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTGGGAACATGACgcaggt	0.592																																																	0													52	44	47					19																	1032654		2203	4299	6502	SO:0001583	missense	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.349A>G	19.37:g.1032654A>G	ENSP00000263097:p.Met117Val		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.M117V	ENST00000263097.4	37	c.349	CCDS12053.1	19	.	.	.	.	.	.	.	.	.	.	A	9.720	1.159375	0.21454	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	D;D	0.94931	-3.56;-3.56	4.05	-3.41	0.04839	Calponin homology domain (5);	0.105389	0.64402	U	0.000009	D	0.88934	0.6572	L	0.41632	1.29	0.31930	N	0.612253	B;B;B;B;B	0.14012	0.005;0.009;0.004;0.001;0.009	B;B;B;B;B	0.21546	0.008;0.035;0.027;0.013;0.023	T	0.74595	-0.3613	10	0.62326	D	0.03	.	8.792	0.34857	0.3029:0.5689:0.0:0.1282	.	117;117;117;117;117	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	V	117;117;96	ENSP00000263097:M117V;ENSP00000340129:M117V	ENSP00000263097:M117V	M	+	1	0	CNN2	983654	1.000000	0.71417	0.483000	0.27378	0.777000	0.43975	0.979000	0.29500	-1.418000	0.02014	0.254000	0.18369	ATG	CNN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin		0.592	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	A	NM_004368		1032654	1	no_errors	ENST00000263097	ensembl	human	known	70_37	missense	SNP	0.988	G	G	1032654	A	G	1032654	3	3	84	1	0	0	0	0	1	0	0	0	3615	217	8	5	363	5	CNN2	19	1032654	Missense_Mutation	SNP	A	TCGA-EA-A50E-01A-21D-A26G-09		1032654	58096329	97	12760										
UBXN6	80700	genome.wustl.edu	37	chr19	4454023	4454023	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	agcggctgccatctgtgcctCattggtgggtccctggcggg	16	12	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:4454023C>T	ENST00000301281.6	-	2	275	c.151G>A	c.(151-153)Gag>Aag	p.E51K	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						ATCTGTGCCTCATTGGTGGGT	0.667																																																	0													73	93	86					19																	4454023		2203	4299	6502	SO:0001583	missense	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.151G>A	19.37:g.4454023C>T	ENSP00000301281:p.Glu51Lys		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.E51K	ENST00000301281.6	37	c.151	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.198054	0.94997	.	.	ENSG00000167671	ENST00000301281	T	0.49720	0.77	4.24	4.24	0.50183	.	0.060444	0.64402	D	0.000003	T	0.55162	0.1903	M	0.76574	2.34	0.80722	D	1	P	0.47762	0.9	P	0.45946	0.498	T	0.64761	-0.6331	10	0.62326	D	0.03	-38.1701	15.6441	0.77033	0.0:1.0:0.0:0.0	.	51	Q9BZV1	UBXN6_HUMAN	K	51	ENSP00000301281:E51K	ENSP00000301281:E51K	E	-	1	0	UBXN6	4405023	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	5.130000	0.64745	1.915000	0.55452	0.491000	0.48974	GAG	UBXN6	-	NULL		0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3	C	NM_025241		4454023	-1	no_errors	ENST00000301281	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4454023	C	T	4454023	3	4	84	1	0	0	0	0	1	0	0	0	16948	835	29	1	1214	1	UBXN6	19	4454023	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	3421369	4454023	54674960	98	12761										
CLEC4M	10332	genome.wustl.edu	37	chr19	7831066	7831066	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	agcagcagcaaatctatcaaGaactgaccgatttgaagact	8	9	2	4			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:7831066G>C	ENST00000327325.5	+	4	875	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	CLEC4M_ENST00000248228.4_Missense_Mutation_p.E231Q|CLEC4M_ENST00000596363.1_Missense_Mutation_p.E225Q|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E253Q|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E202Q|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E241Q|CLEC4M_ENST00000596707.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	253	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AATCTATCAAGAACTGACCGA	0.502																																																	0													143	146	145					19																	7831066		2203	4300	6503	SO:0001583	missense	10332			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.757G>C	19.37:g.7831066G>C	ENSP00000316228:p.Glu253Gln		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E253Q	ENST00000327325.5	37	c.757	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	2.885	-0.230996	0.05983	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000357361;ENST00000358690	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	0.726	-1.45	0.08828	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.18002	0.0432	L	0.33753	1.03	0.09310	N	1	B;P;D;B;P;B;B	0.55605	0.007;0.867;0.972;0.26;0.603;0.018;0.013	B;B;P;B;B;B;B	0.60117	0.004;0.382;0.869;0.064;0.012;0.059;0.013	T	0.21690	-1.0238	9	0.14252	T	0.57	.	4.1915	0.10422	0.0:0.4425:0.5575:0.0	.	202;225;253;241;230;225;197	B4E2Z5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;CLC4M_HUMAN;.;.;.;.	Q	253;241;231;202;253;197	ENSP00000316228:E253Q;ENSP00000377680:E241Q;ENSP00000248228:E231Q;ENSP00000335228:E202Q;ENSP00000349924:E253Q	ENSP00000248228:E231Q	E	+	1	0	CLEC4M	7737066	0.004000	0.15560	0.027000	0.17364	0.335000	0.28730	-0.121000	0.10643	-0.271000	0.09272	0.134000	0.15878	GAA	CLEC4M	-	superfamily_C-type_lectin_fold		0.502	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	G	NM_014257		7831066	1	no_errors	ENST00000327325	ensembl	human	known	70_37	missense	SNP	0.036	C	C	7831066	G	C	7831066	3	2	84	1	0	0	0	0	1	0	0	0	3523	943	33	1	792	1	CLEC4M	19	7831066	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	3377043	7831066	51297917	99	12762										
MUC16	94025	genome.wustl.edu	37	chr19	9083358	9083358	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	acctcacctgggttcatggtCagagggagagaagaaaatgt	13	7	3	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:9083358C>T	ENST00000397910.4	-	1	8660	c.8457G>A	c.(8455-8457)ctG>ctA	p.L2819L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2819	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTCATGGTCAGAGGGAGAG	0.502																																																	0													108	102	104					19																	9083358		1996	4171	6167	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8457G>A	19.37:g.9083358C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L2819	ENST00000397910.4	37	c.8457	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9083358	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.004	T	T	9083358	C	T	9083358	2	4	84	1	0	0	0	0	0	0	0	1	9996	813	29	1		1	MUC16	19	9083358	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	1252292	9083358	50045625	100	12763										
ZNF99	7652	genome.wustl.edu	37	chr19	22939155	22939155	+	IGR	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gtgaggactggttaaaggctTtgccacattcttcacatttg	10	8	2	1	rs74170732		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:22939155T>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.K989I|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTAAAGGCTTTGCCACATTC	0.368																																																	0													50	68	63					19																	22939155		2019	4281	6300	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939155T>A			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K989I	ENST00000596209.1	37	c.2966	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	11.81	1.749174	0.30955	.	.	ENSG00000213973	ENST00000397104	T	0.60920	0.15	1.3	0.12	0.14691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69024	0.3065	.	.	.	0.09310	N	1	P	0.38300	0.626	P	0.61397	0.888	T	0.62158	-0.6913	8	0.87932	D	0	.	5.2217	0.15371	0.0:0.1804:0.0:0.8196	.	988	A8MXY4	ZNF99_HUMAN	I	989	ENSP00000380293:K989I	ENSP00000380293:K989I	K	-	2	0	ZNF99	22730995	0.334000	0.24739	0.000000	0.03702	0.024000	0.10985	1.653000	0.37323	-0.261000	0.09405	-0.575000	0.04146	AAA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	T	XM_065124		22939155	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.215	A	A	22939155	T	A	22939155	1	1	84	0	1	0	0	0	0	0	0	0	18234	1841	64	5		5	ZNF99	19	22939155	IGR	SNP	T	TCGA-EA-A50E-01A-21D-A26G-09	13855797	22939155	36189828	101	12764										
ZNF536	9745	genome.wustl.edu	37	chr19	30935236	30935236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cgacgtggcccacccggtgcCctcgcccaagcctgccagcg	12	20	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:30935236C>T	ENST00000355537.3	+	2	914	c.767C>T	c.(766-768)cCc>cTc	p.P256L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	256					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACCCGGTGCCCTCGCCCAAG	0.726																																																	0													6	7	7					19																	30935236		2035	4047	6082	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.767C>T	19.37:g.30935236C>T	ENSP00000347730:p.Pro256Leu		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P256L	ENST00000355537.3	37	c.767	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849744	0.32699	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.7	4.66	0.58398	.	0.221854	0.48767	N	0.000171	T	0.09774	0.0240	L	0.29908	0.895	0.58432	D	0.999994	B;D	0.54964	0.002;0.969	B;P	0.46208	0.003;0.507	T	0.13737	-1.0498	10	0.41790	T	0.15	-27.596	14.5846	0.68315	0.0:0.9296:0.0:0.0704	.	256;256	A7E228;O15090	.;ZN536_HUMAN	L	256	ENSP00000347730:P256L	ENSP00000347730:P256L	P	+	2	0	ZNF536	35627076	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.787000	0.85759	1.416000	0.47057	0.491000	0.48974	CCC	ZNF536	-	NULL		0.726	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935236	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30935236	C	T	30935236	3	4	84	1	0	0	0	0	1	0	0	0	18004	623	22	4	769	4	ZNF536	19	30935236	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	7996081	30935236	28193747	102	12765										
MAP3K10	4294	genome.wustl.edu	37	chr19	40711973	40711973	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	atgtgccagctgagccaggaGaagccccgggtccgcaagcg	15	13	0	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:40711973G>A	ENST00000253055.3	+	5	1632	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	448					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAGCCAGGAGAAGCCCCGGG	0.667																																																	0													25	25	25					19																	40711973		2203	4298	6501	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1344G>A	19.37:g.40711973G>A			Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E448	ENST00000253055.3	37	c.1344	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11		0.667	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	G	NM_002446		40711973	1	no_errors	ENST00000253055	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40711973	G	A	40711973	2	1	84	1	0	0	0	0	0	0	0	1	9267	933	33	1		1	MAP3K10	19	40711973	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	9776737	40711973	18417010	103	12766										
EMP3	2014	genome.wustl.edu	37	chr19	48830147	48830147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cagcccttcacatcctcattCttatactgcttttcgtggcc	5	15	3	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:48830147C>G	ENST00000270221.6	+	2	347	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	EMP3_ENST00000596315.1_Intron|EMP3_ENST00000597279.1_Missense_Mutation_p.L16V	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	16					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCCTCATTCTTATACTGCT	0.562																																																	0													285	248	260					19																	48830147		2203	4300	6503	SO:0001583	missense	2014			U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.46C>G	19.37:g.48830147C>G	ENSP00000270221:p.Leu16Val		Q6FH01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20	p.L16V	ENST00000270221.6	37	c.46	CCDS12715.1	19	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978138	0.34942	.	.	ENSG00000142227	ENST00000270221	D	0.88201	-2.35	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	L	0.60455	1.87	0.51233	D	0.999915	D	0.69078	0.997	D	0.81914	0.995	D	0.88620	0.3162	10	0.18276	T	0.48	.	13.8604	0.63557	0.0:1.0:0.0:0.0	.	16	P54852	EMP3_HUMAN	V	16	ENSP00000270221:L16V	ENSP00000270221:L16V	L	+	1	0	EMP3	53521959	0.985000	0.35326	1.000000	0.80357	0.987000	0.75469	2.609000	0.46317	2.461000	0.83175	0.650000	0.86243	CTT	EMP3	-	pfam_PMP22/EMP/MP20/Claudin		0.562	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP3	HGNC	protein_coding	OTTHUMT00000465613.1	C	NM_001425		48830147	1	no_errors	ENST00000270221	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48830147	C	G	48830147	3	3	84	1	0	0	0	0	1	0	0	0	5115	913	32	1	48	1	EMP3	19	48830147	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	8118174	48830147	10298836	104	12767										
RASIP1	54922	genome.wustl.edu	37	chr19	49230396	49230396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ttcaggagtcaggggcacctCggggaccccctcagggtggc	16	13	3	0	rs371513864		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:49230396C>T	ENST00000222145.4	-	7	2095	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	631	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGGGCACCTCGGGGACCCCC	0.547																																																	0								C	LYS/GLU	0,4406		0,0,2203	33	36	35		1891	5.5	0.5	19		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASIP1	NM_017805.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	631/964	49230396	1,13005	2203	4300	6503	SO:0001583	missense	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1891G>A	19.37:g.49230396C>T	ENSP00000222145:p.Glu631Lys		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.E631K	ENST00000222145.4	37	c.1891	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939317	0.34189	0.0	1.16E-4	ENSG00000105538	ENST00000222145	T	0.23552	1.9	5.46	5.46	0.80206	Dilute (1);	0.227351	0.35870	N	0.002936	T	0.19565	0.0470	L	0.36672	1.1	0.46609	D	0.999121	B	0.26363	0.147	B	0.18561	0.022	T	0.03784	-1.1004	10	0.22706	T	0.39	-4.6205	12.854	0.57873	0.0:0.836:0.164:0.0	.	631	Q5U651	RAIN_HUMAN	K	631	ENSP00000222145:E631K	ENSP00000222145:E631K	E	-	1	0	RASIP1	53922208	0.844000	0.29557	0.490000	0.27465	0.653000	0.38743	2.217000	0.42880	2.742000	0.94016	0.591000	0.81541	GAG	RASIP1	-	pfscan_Dilute		0.547	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	C	NM_017805		49230396	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	missense	SNP	0.957	T	T	49230396	C	T	49230396	3	4	84	1	0	0	0	0	1	0	0	0	13108	893	31	1	1024	1	RASIP1	19	49230396	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	400249	49230396	9898587	105	12768										
ETFB	2109	genome.wustl.edu	37	chr19	51857609	51857609	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ggtcaggaggaaacaggcaaGaaggtgggggcctcagcgcc	18	9	2	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:51857609G>T	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000354232.4_Missense_Mutation_p.S95Y	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AAACAGGCAAGAAGGTGGGGG	0.642																																																	0													60	57	58					19																	51857609		2203	4300	6503	SO:0001627	intron_variant	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-47C>A	19.37:g.51857609G>T			A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.S95Y	ENST00000309244.4	37	c.284	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	g	11.28	1.592997	0.28357	.	.	ENSG00000105379	ENST00000354232	D	0.84589	-1.87	3.33	-1.77	0.07982	.	.	.	.	.	T	0.66548	0.2800	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49643	-0.8918	7	.	.	.	.	0.2584	0.00215	0.271:0.1988:0.3089:0.2213	.	95	P38117-2	.	Y	95	ENSP00000346173:S95Y	.	S	-	2	0	ETFB	56549421	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.651000	0.05372	-0.134000	0.11516	0.651000	0.88453	TCT	ETFB	-	NULL		0.642	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	G			51857609	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	missense	SNP	0.000	T	T	51857609	G	T	51857609	1	4	84	0	1	0	0	0	0	0	0	0	5282	942	33	3		3	ETFB	19	51857609	Intron	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	2627213	51857609	7271374	106	12769										
SIGLEC8	27181	genome.wustl.edu	37	chr19	51961392	51961392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgcctgcacttctctgtctgGgttgtttgtggccactggag	13	10	2	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:51961392G>T	ENST00000321424.3	-	1	316	c.250C>A	c.(250-252)Cca>Aca	p.P84T	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P84T|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P84T	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	84	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCTGTCTGGGTTGTTTGTG	0.582																																																	0													182	158	166					19																	51961392		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.250C>A	19.37:g.51961392G>T	ENSP00000321077:p.Pro84Thr		Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P84T	ENST00000321424.3	37	c.250	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	16.37	3.103397	0.56291	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.45668	0.89;0.89;0.89	2.04	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.201062	0.24791	N	0.035570	T	0.63570	0.2522	M	0.91920	3.255	0.09310	N	1	D;P;P	0.62365	0.991;0.939;0.729	D;P;P	0.63488	0.915;0.507;0.681	T	0.52939	-0.8508	10	0.52906	T	0.07	.	7.6512	0.28350	0.0:0.0:1.0:0.0	.	84;84;84	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	T	84	ENSP00000389142:P84T;ENSP00000321077:P84T;ENSP00000339448:P84T	ENSP00000321077:P84T	P	-	1	0	SIGLEC8	56653204	0.064000	0.20934	0.119000	0.21687	0.582000	0.36321	0.499000	0.22546	1.434000	0.47414	0.508000	0.49915	CCA	SIGLEC8	-	pfam_Ig_V-set,smart_Ig_sub		0.582	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	G	NM_014442		51961392	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	missense	SNP	0.185	T	T	51961392	G	T	51961392	3	4	84	1	0	0	0	0	1	0	0	0	14344	1232	43	4	1277	4	SIGLEC8	19	51961392	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	103783	51961392	7167591	107	12770										
PPP2R1A	5518	genome.wustl.edu	37	chr19	52723027	52723027	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	cggcagctgtcccagtccctGctccctgccattgtggagct	11	16	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:52723027G>C	ENST00000322088.6	+	10	1270	c.1212G>C	c.(1210-1212)ctG>ctC	p.L404L	PPP2R1A_ENST00000444322.2_Silent_p.L349L|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Silent_p.L225L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	404	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCAGTCCCTGCTCCCTGCCA	0.597			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													74	67	69					19																	52723027		2203	4300	6503	SO:0001819	synonymous_variant	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1212G>C	19.37:g.52723027G>C			Q13773|Q6ICQ3|Q96DH3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L404	ENST00000322088.6	37	c.1212	CCDS12849.1	19																																																																																			PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.597	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	G	NM_014225		52723027	1	no_errors	ENST00000322088	ensembl	human	known	70_37	silent	SNP	1.000	C	C	52723027	G	C	52723027	2	2	84	1	0	0	0	0	0	0	0	1	12409	1306	46	4		4	PPP2R1A	19	52723027	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	761635	52723027	6405956	108	12771										
CACNG7	59284	genome.wustl.edu	37	chr19	54416107	54416107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tgagtcactgcagcagccgcGccctgaccctgctgagcagc	12	16	1	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:54416107G>A	ENST00000391767.1	+	2	234	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	CACNG7_ENST00000391766.1_Missense_Mutation_p.A8T|CACNG7_ENST00000222212.2_Missense_Mutation_p.A8T|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	8					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAGCAGCCGCGCCCTGACCCT	0.637																																																	0													54	45	48					19																	54416107		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.22G>A	19.37:g.54416107G>A	ENSP00000375647:p.Ala8Thr		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.A8T	ENST00000391767.1	37	c.22	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.353797	0.95830	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.77620	-0.15;-0.15;-1.11	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	L	0.29908	0.895	0.80722	D	1	D	0.55605	0.972	P	0.44990	0.466	T	0.66858	-0.5817	10	0.23302	T	0.38	-28.0889	14.6399	0.68717	0.0:0.0:1.0:0.0	.	8	P62955	CCG7_HUMAN	T	8	ENSP00000375647:A8T;ENSP00000222212:A8T;ENSP00000375646:A8T	ENSP00000222212:A8T	A	+	1	0	CACNG7	59107919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.072000	0.93986	2.411000	0.81874	0.561000	0.74099	GCC	CACNG7	-	prints_VDCC_g7su		0.637	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	G			54416107	1	no_errors	ENST00000222212	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54416107	G	A	54416107	3	1	84	1	0	0	0	0	1	0	0	0	2567	1087	38	2	24	2	CACNG7	19	54416107	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	1693080	54416107	4712876	109	12772										
SIRPA	140885	genome.wustl.edu	37	chr20	1918151	1918151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ctcaaccggacccccaagcaGccggcccccaagcctgagcc	9	21	1	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:1918151G>A	ENST00000358771.4	+	8	1604	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	SIRPA_ENST00000400068.3_Silent_p.Q488Q|SIRPA_ENST00000356025.3_Silent_p.Q484Q	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	484					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCCCCAAGCAGCCGGCCCCCA	0.637																																					GBM(155;1668 1920 5945 42733 48121)												0													78	83	81					20																	1918151		2203	4300	6503	SO:0001819	synonymous_variant	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1452G>A	20.37:g.1918151G>A			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.Q488	ENST00000358771.4	37	c.1464	CCDS13022.1	20																																																																																			SIRPA	-	NULL		0.637	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	G	NM_080792		1918151	1	no_errors	ENST00000400068	ensembl	human	known	70_37	silent	SNP	0.015	A	A	1918151	G	A	1918151	2	1	84	1	0	0	0	0	0	0	0	1	14362	962	34	4		4	SIRPA	20	1918151	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		1918151	61107369	110	12773										
EIF6	3692	genome.wustl.edu	37	chr20	33867868	33867868	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	actagcacctggtcggccacTgtctgtctgaagacttccac	9	14	2	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:33867868T>A	ENST00000374450.3	-	5	687	c.423A>T	c.(421-423)acA>acT	p.T141T	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|EIF6_ENST00000374443.3_Silent_p.T122T|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000435366.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EIF6_ENST00000374436.3_Silent_p.T141T|EDEM2_ENST00000540582.1_5'Flank	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGTCGGCCACTGTCTGTCTGA	0.498																																																	0													146	139	141					20																	33867868		2203	4300	6503	SO:0001819	synonymous_variant	3692			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"integrin beta 4 binding protein"	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.423A>T	20.37:g.33867868T>A				Missense_Mutation	SNP	NULL	p.Q181L	ENST00000374450.3	37	c.542	CCDS13249.1	20																																																																																			EIF6	-	NULL		0.498	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	T	NM_002212		33867868	-1	no_errors	ENST00000415116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33867868	T	A	33867868	2	1	84	1	0	0	0	0	0	0	0	1	5057	1567	55	5		5	EIF6	20	33867868	Silent	SNP	T	TCGA-EA-A50E-01A-21D-A26G-09	31949717	33867868	29157652	111	12774										
LAMA5	3911	genome.wustl.edu	37	chr20	60928291	60928291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tggcaaacttgatgaggacgTaggccacgtggaagacctgt	14	8	0	3			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:60928291T>C	ENST00000252999.3	-	3	533	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	LAMA5_ENST00000370692.3_Missense_Mutation_p.Y156C|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.Y156C|RP11-157P1.5_ENST00000456721.2_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	156	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GATGAGGACGTAGGCCACGTG	0.657																																																	0													41	38	39					20																	60928291		2187	4283	6470	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.467A>G	20.37:g.60928291T>C	ENSP00000252999:p.Tyr156Cys		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.Y156C	ENST00000252999.3	37	c.467	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549753	0.65311	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.80480	-1.38;-1.38;-1.38	4.39	4.39	0.52855	Laminin, N-terminal (3);	0.000000	0.64402	U	0.000001	D	0.92734	0.7690	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94791	0.7962	10	0.87932	D	0	.	13.6138	0.62094	0.0:0.0:0.0:1.0	.	156	O15230	LAMA5_HUMAN	C	156	ENSP00000252999:Y156C;ENSP00000359726:Y156C;ENSP00000359711:Y156C	ENSP00000252999:Y156C	Y	-	2	0	LAMA5	60361686	1.000000	0.71417	0.894000	0.35097	0.491000	0.33493	7.855000	0.86950	1.638000	0.50547	0.374000	0.22700	TAC	LAMA5	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	T	NM_005560		60928291	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.999	C	C	60928291	T	C	60928291	3	2	84	1	0	0	0	0	1	0	0	0	8629	1638	57	5	10932	5	LAMA5	20	60928291	Missense_Mutation	SNP	T	TCGA-EA-A50E-01A-21D-A26G-09	27060423	60928291	2097229	112	12775										
COL20A1	57642	genome.wustl.edu	37	chr20	61947915	61947915	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	tcttccccagggtttgacctGatggtggccttcagcctggt	12	12	2	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:61947915G>C	ENST00000358894.6	+	21	2635	c.2535G>C	c.(2533-2535)ctG>ctC	p.L845L	COL20A1_ENST00000326996.6_Silent_p.L845L|COL20A1_ENST00000435874.1_Silent_p.L852L|COL20A1_ENST00000422202.1_Silent_p.L852L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	845	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTTTGACCTGATGGTGGCCT	0.647																																																	0													28	29	29					20																	61947915		2008	4161	6169	SO:0001819	synonymous_variant	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2535G>C	20.37:g.61947915G>C			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L845	ENST00000358894.6	37	c.2535	CCDS46628.1	20																																																																																			COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	G	NM_020882		61947915	1	no_errors	ENST00000326996	ensembl	human	known	70_37	silent	SNP	1.000	C	C	61947915	G	C	61947915	2	2	84	1	0	0	0	0	0	0	0	1	3684	1277	45	1		1	COL20A1	20	61947915	Silent	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09	1019624	61947915	1077605	113	12776										
KRTAP12-4	386684	genome.wustl.edu	37	chr21	46074509	46074509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ggcaggccattgggcagcccGaagagtggctggtgtggcac	18	10	0	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr21:46074509G>A	ENST00000391618.1	-	1	67	c.23C>T	c.(22-24)tCg>tTg	p.S8L	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	8						keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						TGGGCAGCCCGAAGAGTGGCT	0.652																																																	0													12	16	15					21																	46074509		2029	4172	6201	SO:0001583	missense	386684			AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"Keratin associated proteins"	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.23C>T	21.37:g.46074509G>A	ENSP00000375476:p.Ser8Leu		Q08AF5	Missense_Mutation	SNP	NULL	p.S8L	ENST00000391618.1	37	c.23	CCDS42963.1	21	.	.	.	.	.	.	.	.	.	.	g	12.18	1.860541	0.32884	.	.	ENSG00000212933	ENST00000391618	T	0.02258	4.37	4.68	-2.94	0.05581	.	.	.	.	.	T	0.03305	0.0096	M	0.82056	2.57	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.34825	-0.9813	9	0.48119	T	0.1	.	4.0453	0.09770	0.3556:0.0:0.392:0.2524	.	8	P60329	KR124_HUMAN	L	8	ENSP00000375476:S8L	ENSP00000375476:S8L	S	-	2	0	KRTAP12-4	44898937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.610000	0.02064	-0.537000	0.06290	-0.349000	0.07799	TCG	KRTAP12-4	-	NULL		0.652	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-4	HGNC	protein_coding	OTTHUMT00000128036.1	G			46074509	-1	no_errors	ENST00000391618	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46074509	G	A	46074509	3	1	84	1	0	0	0	0	1	0	0	0	8541	1059	37	1	319	1	KRTAP12-4	21	46074509	Missense_Mutation	SNP	G	TCGA-EA-A50E-01A-21D-A26G-09		46074509	2055386	114	12777										
MAPK8IP2	23542	genome.wustl.edu	37	chr22	51041880	51041880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ccccttccgtggaggagcccCacaagcaccggcccaccacc	9	21	0	0			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr22:51041880C>T	ENST00000329492.3	+	3	517	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	MAPK8IP2_ENST00000341339.4_Intron|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.H107Y|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.H134Y	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	134	JNK-binding domain (JBD).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGGAGCCCCACAAGCACCG	0.692																																																	0													24	32	29					22																	51041880		1919	4110	6029	SO:0001583	missense	23542			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.400C>T	22.37:g.51041880C>T	ENSP00000330572:p.His134Tyr		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.H134Y	ENST00000329492.3	37	c.400		22	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635664	0.47049	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000008876	T;T;T	0.55234	0.95;0.53;2.18	4.58	4.58	0.56647	.	0.406811	0.24330	N	0.039465	T	0.37732	0.1014	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.31730	0.167;0.337	B;B	0.25614	0.038;0.062	T	0.40040	-0.9584	10	0.87932	D	0	-23.0874	8.8191	0.35014	0.0:0.8991:0.0:0.1009	.	107;134	E7EQG6;Q13387	.;JIP2_HUMAN	Y	134;134;107	ENSP00000330572:H134Y;ENSP00000404914:H134Y;ENSP00000008876:H107Y	ENSP00000008876:H107Y	H	+	1	0	MAPK8IP2	49388746	0.687000	0.27671	1.000000	0.80357	0.762000	0.43233	2.669000	0.46825	2.557000	0.86248	0.555000	0.69702	CAC	MAPK8IP2	-	NULL		0.692	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	MAPK8IP2	HGNC	protein_coding		C	NM_012324		51041880	1	no_errors	ENST00000329492	ensembl	human	known	70_37	missense	SNP	0.999	T	T	51041880	C	T	51041880	3	4	84	1	0	0	0	0	1	0	0	0	9308	594	21	4	500	4	MAPK8IP2	22	51041880	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		51041880	262686	115	12778										
ATRX	546	genome.wustl.edu	37	chrX	76776919	76776919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ctcaagaggttgaatcctcaCtgctgtcacactgtttgttg	9	10	3	2			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrX:76776919C>T	ENST00000373344.5	-	33	7247	c.7033G>A	c.(7033-7035)Gtg>Atg	p.V2345M	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.V2307M	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2345					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGAATCCTCACTGCTGTCACA	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													183	150	161					X																	76776919		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7033G>A	X.37:g.76776919C>T	ENSP00000362441:p.Val2345Met		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V2345M	ENST00000373344.5	37	c.7033	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152651	0.21371	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92858	-3.11;-3.12	5.06	5.06	0.68205	.	0.178870	0.38548	N	0.001644	D	0.86669	0.5988	N	0.02539	-0.55	0.80722	D	1	P;P	0.47677	0.899;0.493	P;B	0.51355	0.667;0.107	D	0.89768	0.3952	10	0.44086	T	0.13	.	17.6044	0.88034	0.0:1.0:0.0:0.0	.	2307;2345	P46100-4;P46100	.;ATRX_HUMAN	M	2345;2307	ENSP00000362441:V2345M;ENSP00000378967:V2307M	ENSP00000362441:V2345M	V	-	1	0	ATRX	76663575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.453000	0.44970	2.086000	0.62901	0.513000	0.50165	GTG	ATRX	-	NULL		0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76776919	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76776919	C	T	76776919	3	4	84	1	0	0	0	0	1	0	0	0	1209	565	20	4	457	4	ATRX	23	76776919	Missense_Mutation	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09		76776919	78493641	116	12779										
TEX13B	56156	genome.wustl.edu	37	chrX	107224920	107224920	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	gcatggaagagcttccatctCagcatgtcccgctctctctg	9	14	3	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrX:107224920C>G	ENST00000302917.1	-	2	530	c.438G>C	c.(436-438)ctG>ctC	p.L146L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	146										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCTTCCATCTCAGCATGTCCC	0.592																																																	0													123	94	104					X																	107224920		2200	4300	6500	SO:0001819	synonymous_variant	56156			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.438G>C	X.37:g.107224920C>G			Q5JYF6	Silent	SNP	NULL	p.L146	ENST00000302917.1	37	c.438	CCDS14534.1	X																																																																																			TEX13B	-	NULL		0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	C			107224920	-1	no_errors	ENST00000302917	ensembl	human	known	70_37	silent	SNP	0.001	G	G	107224920	C	G	107224920	2	3	84	1	0	0	0	0	0	0	0	1	15807	813	29	1		1	TEX13B	23	107224920	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	30448001	107224920	48045640	117	12780										
MAGEC3	139081	genome.wustl.edu	37	chrX	140969264	140969264	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.299145299145299	35	4.46778207019814e-09	2.98311444652908	4.49037227214377	2.58536585365854	0.00485835720579417	0.0248031920506334	23	ttggtgcagtttcttctcctCaaatatcaagcaaaagagcc	7	10	4	1			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrX:140969264C>T	ENST00000298296.1	+	4	591	c.591C>T	c.(589-591)ctC>ctT	p.L197L	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	197	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTCTCCTCAAATATCAAG	0.458																																																	0													137	131	133					X																	140969264		2203	4300	6503	SO:0001819	synonymous_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.591C>T	X.37:g.140969264C>T			Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L197	ENST00000298296.1	37	c.591	CCDS14676.1	X																																																																																			MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.458	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140969264	1	no_errors	ENST00000298296	ensembl	human	known	70_37	silent	SNP	0.001	T	T	140969264	C	T	140969264	2	4	84	1	0	0	0	0	0	0	0	1	9205	813	29	1		1	MAGEC3	23	140969264	Silent	SNP	C	TCGA-EA-A50E-01A-21D-A26G-09	33744344	140969264	14301296	118	12781										
GABRD	2563	genome.wustl.edu	37	chr1	1961008	1961008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	aggcatcaccacggtgctgaCgatgaccacgctcatggtca	11	13	3	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr1:1961008C>T	ENST00000378585.4	+	8	949	c.866C>T	c.(865-867)aCg>aTg	p.T289M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	289					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGGTGCTGACGATGACCACG	0.617																																																	0													86	72	77					1																	1961008		2202	4299	6501	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.866C>T	1.37:g.1961008C>T	ENSP00000367848:p.Thr289Met		Q8N4N9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T289M	ENST00000378585.4	37	c.866	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287135	0.59867	.	.	ENSG00000187730	ENST00000378585	D	0.87887	-2.31	4.62	4.62	0.57501	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.057809	0.64402	D	0.000001	D	0.94381	0.8193	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95491	0.8569	10	0.87932	D	0	-13.5048	16.8444	0.85976	0.0:1.0:0.0:0.0	.	289	O14764	GBRD_HUMAN	M	289	ENSP00000367848:T289M	ENSP00000367848:T289M	T	+	2	0	GABRD	1950868	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	7.546000	0.82137	2.297000	0.77311	0.561000	0.74099	ACG	GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.617	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961008	1	no_errors	ENST00000378585	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1961008	C	T	1961008	3	4	85	1	0	0	0	0	1	0	0	0	6187	536	19	2	896	2	GABRD	1	1961008	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09		1961008	247289613	1	12782										
GABRD	2563	genome.wustl.edu	37	chr1	1961652	1961652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	gcagacaccattgacatttaCgcccgcgctgtgttccctgc	9	15	0	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr1:1961652C>T	ENST00000378585.4	+	9	1373	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	430					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y430Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGACATTTACGCCCGCGCTG	0.647																																																	1	Substitution - coding silent(1)	ovary(1)											65	64	64					1																	1961652		2203	4296	6499	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1290C>T	1.37:g.1961652C>T			Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Y430	ENST00000378585.4	37	c.1290	CCDS36.1	1																																																																																			GABRD	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt		0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961652	1	no_errors	ENST00000378585	ensembl	human	known	70_37	silent	SNP	0.902	T	T	1961652	C	T	1961652	2	4	85	1	0	0	0	0	0	0	0	1	6187	547	19	2		2	GABRD	1	1961652	Silent	SNP	C	TCGA-EA-A556-01A-11D-A26G-09	644	1961652	247288969	2	12783										
MTOR	2475	genome.wustl.edu	37	chr1	11273502	11273502	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	tgttgtcatgcatgaagacaCgcagcatgtgtgggatcagc	13	8	2	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr1:11273502C>G	ENST00000361445.4	-	21	3315	c.3239G>C	c.(3238-3240)cGt>cCt	p.R1080P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1080					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CATGAAGACACGCAGCATGTG	0.488																																																	0													121	116	118					1																	11273502		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3239G>C	1.37:g.11273502C>G	ENSP00000354558:p.Arg1080Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1080P	ENST00000361445.4	37	c.3239	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283072	0.59867	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64991	-0.13	5.99	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.88450	2.955	0.80722	D	1	P	0.49447	0.924	B	0.40375	0.327	T	0.76515	-0.2931	10	0.54805	T	0.06	-17.3662	15.4334	0.75121	0.0:0.9336:0.0:0.0664	.	1080	P42345	MTOR_HUMAN	P	1080	ENSP00000354558:R1080P	ENSP00000354558:R1080P	R	-	2	0	MTOR	11196089	1.000000	0.71417	0.483000	0.27378	0.713000	0.41058	7.365000	0.79537	1.540000	0.49301	0.655000	0.94253	CGT	MTOR	-	superfamily_ARM-type_fold		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11273502	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	0.998	G	G	11273502	C	G	11273502	3	3	85	1	0	0	0	0	1	0	0	0	9977	536	19	2	4562	2	MTOR	1	11273502	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09	9311850	11273502	237977119	3	12784										
IFI16	3428	genome.wustl.edu	37	chr1	158988186	158988186	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	gtggctacacagacacagttCttccatgtgaaggttttaaa	9	8	1	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr1:158988186C>A	ENST00000295809.7	+	5	972	c.717C>A	c.(715-717)ttC>ttA	p.F239L	IFI16_ENST00000430894.2_Missense_Mutation_p.F187L|IFI16_ENST00000340979.6_Missense_Mutation_p.F239L|IFI16_ENST00000368132.3_Missense_Mutation_p.F239L|IFI16_ENST00000359709.3_Missense_Mutation_p.F183L|IFI16_ENST00000448393.2_Missense_Mutation_p.F239L|IFI16_ENST00000368131.4_Missense_Mutation_p.F239L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	239	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.F239F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGACACAGTTCTTCCATGTGA	0.363																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											82	83	82					1																	158988186		2203	4300	6503	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.717C>A	1.37:g.158988186C>A	ENSP00000295809:p.Phe239Leu		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.F239L	ENST00000295809.7	37	c.717		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.015513|2.015513	0.35511|0.35511	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.0;2.0|.	2.9|2.9	-2.4|-2.4	0.06583|0.06583	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.25232|0.25232	0.0613|0.0613	M|M	0.79011|0.79011	2.435|2.435	0.09310|0.09310	N|N	1|1	B;B;B|.	0.21520|.	0.057;0.046;0.055|.	B;B;B|.	0.19666|.	0.014;0.008;0.026|.	T|T	0.38908|0.38908	-0.9639|-0.9639	9|5	0.48119|.	T|.	0.1|.	.|.	2.5684|2.5684	0.04789|0.04789	0.2172:0.3104:0.0:0.4723|0.2172:0.3104:0.0:0.4723	.|.	187;239;239|.	E7EPR3;Q16666-2;Q16666|.	.;.;IF16_HUMAN|.	L|Y	239;239;239;239;239;187|60	ENSP00000295809:F239L;ENSP00000342741:F239L;ENSP00000357113:F239L;ENSP00000357114:F239L;ENSP00000394935:F187L|.	ENSP00000295809:F239L|.	F|S	+|+	3|2	2|0	IFI16|IFI16	157254810|157254810	0.000000|0.000000	0.05858|0.05858	0.076000|0.076000	0.20297|0.20297	0.396000|0.396000	0.30629|0.30629	-2.554000|-2.554000	0.00926|0.00926	-0.719000|-0.719000	0.04942|0.04942	0.555000|0.555000	0.69702|0.69702	TTC|TCT	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.363	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	C	NM_005531		158988186	1	no_errors	ENST00000295809	ensembl	human	known	70_37	missense	SNP	0.072	A	A	158988186	C	A	158988186	3	1	85	1	0	0	0	0	1	0	0	0	7531	912	32	3	731	3	IFI16	1	158988186	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09	147714684	158988186	90262435	4	12785										
CACNA1E	777	genome.wustl.edu	37	chr1	181767481	181767481	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	tctgtctctgacaccagcacCccaagaagaagtcgtcggca	9	14	2	3			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr1:181767481C>A	ENST00000367573.2	+	48	6453	c.6453C>A	c.(6451-6453)acC>acA	p.T2151T	CACNA1E_ENST00000526775.1_Silent_p.T2089T|CACNA1E_ENST00000367570.1_Silent_p.T2108T|CACNA1E_ENST00000360108.3_Silent_p.T2132T|CACNA1E_ENST00000357570.5_Silent_p.T2102T|CACNA1E_ENST00000358338.5_Silent_p.T2040T|CACNA1E_ENST00000367567.4_Silent_p.T1715T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2151					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)			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						ACACCAGCACCCCAAGAAGAA	0.592																																																	0													116	127	123					1																	181767481		2025	4165	6190	SO:0001819	synonymous_variant	777			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.6453C>A	1.37:g.181767481C>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.T2151	ENST00000367573.2	37	c.6453	CCDS55664.1	1																																																																																			CACNA1E	-	NULL		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	C	NM_000721		181767481	1	no_errors	ENST00000367573	ensembl	human	known	70_37	silent	SNP	1.000	A	A	181767481	C	A	181767481	2	1	85	1	0	0	0	0	0	0	0	1	2547	610	22	4		4	CACNA1E	1	181767481	Silent	SNP	C	TCGA-EA-A556-01A-11D-A26G-09	22779295	181767481	67483140	5	12786										
ALMS1	7840	genome.wustl.edu	37	chr2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA													0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ctgccatggccgggcgagctINSggaggaggaggaggaggagg					rs55889738|rs72319667|rs200709146|rs61156725|rs70965731|rs193922695|rs3074417	byFrequency	TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	ovary(1)|breast(1)																																								SO:0001652	inframe_insertion	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.72_74dupGGA	2.37:g.73613038_73613040dupGGA	ENSP00000264448:p.Glu28_Glu28dup		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS	NULL	p.16in_frame_insE	ENST00000264448.6	37	c.35_36	CCDS42697.1	2																																																																																			ALMS1	-	NULL		0.698	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	NM_015120		73613032	1	no_errors	ENST00000264448	ensembl	human	known	70_37	in_frame_ins	INS	0.999:0.989	GGA	GGA	73613032	-	GGA	73613031	7	5	85	1	0	1	1	0	0	0	0	0	535	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-EA-A556-01A-11D-A26G-09		73613031	169586342	6	12787										
SUCLG1	8802	genome.wustl.edu	37	chr2	84668457	84668457	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	gactcgtaccatgtcctgctGgggaattccttcagtgatac	10	11	1	1			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr2:84668457G>A	ENST00000393868.2	-	4	655	c.445C>T	c.(445-447)Cag>Tag	p.Q149*		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	149					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ATGTCCTGCTGGGGAATTCCT	0.473																																					Ovarian(48;203 1101 37206 40305 50790)												0													115	105	109					2																	84668457		2203	4300	6503	SO:0001587	stop_gained	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.445C>T	2.37:g.84668457G>A	ENSP00000377446:p.Gln149*		Q9BWB0|Q9UNP6	Nonsense_Mutation	SNP	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.Q149*	ENST00000393868.2	37	c.445	CCDS1967.2	2	.	.	.	.	.	.	.	.	.	.	G	37	6.037881	0.97226	.	.	ENSG00000163541	ENST00000393868	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.9411	17.4491	0.87587	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000377446:Q149X	Q	-	1	0	SUCLG1	84521968	1.000000	0.71417	0.993000	0.49108	0.650000	0.38633	9.804000	0.99143	2.793000	0.96121	0.561000	0.74099	CAG	SUCLG1	-	pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha		0.473	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2	G	NM_003849		84668457	-1	no_errors	ENST00000393868	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	84668457	G	A	84668457	4	1	85	1	0	0	0	0	0	1	0	0	15394	1357	47	4	619	4	SUCLG1	2	84668457	Nonsense_Mutation	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	11055426	84668457	158530916	7	12788										
FLNB	2317	genome.wustl.edu	37	chr3	58127612	58127612	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	atggggaagtcacagccgtgGaggaggcaccggtaaatgca	16	8	1	0			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr3:58127612G>T	ENST00000295956.4	+	30	5302	c.5137G>T	c.(5137-5139)Gag>Tag	p.E1713*	FLNB_ENST00000419752.2_Nonsense_Mutation_p.E1544*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E1713*|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000357272.4_Nonsense_Mutation_p.E1713*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.E1744*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E1713*|FLNB_ENST00000493452.1_Intron	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1713	Hinge 1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACAGCCGTGGAGGAGGCACC	0.488																																																	0													230	198	209					3																	58127612		2203	4300	6503	SO:0001587	stop_gained	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5137G>T	3.37:g.58127612G>T	ENSP00000295956:p.Glu1713*		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1713*	ENST00000295956.4	37	c.5137	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	45	11.452211	0.99562	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000419752	.	.	.	5.84	2.69	0.31865	.	0.837087	0.11127	N	0.596764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	2.5435	0.04731	0.2346:0.2012:0.4535:0.1107	.	.	.	.	X	1713;1744;1713;1713;1713;1544	.	ENSP00000295956:E1713X	E	+	1	0	FLNB	58102652	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	0.564000	0.23563	0.828000	0.34709	-0.136000	0.14681	GAG	FLNB	-	pfscan_Filamin/ABP280_repeat-like		0.488	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58127612	1	no_errors	ENST00000295956	ensembl	human	known	70_37	nonsense	SNP	0.963	T	T	58127612	G	T	58127612	4	4	85	1	0	0	0	0	0	1	0	0	5952	1175	41	3	5352	3	FLNB	3	58127612	Nonsense_Mutation	SNP	G	TCGA-EA-A556-01A-11D-A26G-09		58127612	139894818	8	12789										
ZNF595	152687	genome.wustl.edu	37	chr4	85969	85970	+	3'UTR	INS	-	-	A													0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	acacctaactcaacatacagINSgaattcatgctggagagaaa							TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr4:85969_85970insA	ENST00000339368.6	+	0	778_779							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCAACATACAGGAATTCATGCT	0.376																																																	0																																										SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*776->A	4.37:g.85969_85970insA				RNA	INS	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.376	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	-	NM_182524		85970	1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	INS	0.614:0.715	A	A	85970	-	A	85969	6	5	85	0	1	1	1	0	0	0	0	0	18055	1001	35	0		0	ZNF595	4	85969	3'UTR	INS	-	TCGA-EA-A556-01A-11D-A26G-09		85969	191068307	9	12790										
LIMK1	3984	genome.wustl.edu	37	chr7	73520242	73520242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	tgagcccagatgtgaagaatTccatccacgtcggagaccgg	12	11	0	5			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr7:73520242T>A	ENST00000336180.2	+	6	697	c.646T>A	c.(646-648)Tcc>Acc	p.S216T	LIMK1_ENST00000538333.3_Missense_Mutation_p.S182T|LIMK1_ENST00000418310.1_Missense_Mutation_p.S246T	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	216	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGTGAAGAATTCCATCCACGT	0.602																																																	0													80	70	74					7																	73520242		2203	4300	6503	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.646T>A	7.37:g.73520242T>A	ENSP00000336740:p.Ser216Thr		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S216T	ENST00000336180.2	37	c.646	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625180	0.46840	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.57273	0.58;0.58;0.41;0.58	4.35	4.35	0.52113	PDZ/DHR/GLGF (4);	0.178504	0.51477	D	0.000096	T	0.42653	0.1212	L	0.46157	1.445	0.42068	D	0.991198	B;B;B	0.27068	0.134;0.167;0.167	B;B;B	0.30572	0.027;0.117;0.117	T	0.32455	-0.9906	10	0.25751	T	0.34	-34.2923	7.2109	0.25933	0.1979:0.0:0.0:0.802	.	111;182;216	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	T	246;216;216;182;182	ENSP00000409717:S246T;ENSP00000336740:S216T;ENSP00000396480:S182T;ENSP00000444452:S182T	ENSP00000336740:S216T	S	+	1	0	LIMK1	73158178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.859000	0.39418	1.852000	0.53769	0.524000	0.50904	TCC	LIMK1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.602	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	T	NM_002314		73520242	1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73520242	T	A	73520242	3	1	85	1	0	0	0	0	1	0	0	0	8821	1783	62	5	668	5	LIMK1	7	73520242	Missense_Mutation	SNP	T	TCGA-EA-A556-01A-11D-A26G-09		73520242	85618421	10	12791										
SCRIB	23513	genome.wustl.edu	37	chr8	144887379	144887379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ggcaggccacgtggcgctgaCggaggggcccggggctctca	19	13	1	1			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr8:144887379C>T	ENST00000320476.3	-	19	2579	c.2573G>A	c.(2572-2574)cGt>cAt	p.R858H	SCRIB_ENST00000377533.3_Missense_Mutation_p.R777H|SCRIB_ENST00000356994.2_Missense_Mutation_p.R858H	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	858	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTGGCGCTGACGGAGGGGCCC	0.721																																					Pancreas(51;966 1133 10533 14576 29674)												0																																										SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2573G>A	8.37:g.144887379C>T	ENSP00000322938:p.Arg858His		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R858H	ENST00000320476.3	37	c.2573	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	C	8.519	0.868230	0.17250	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.39056	1.1;1.1;1.1	4.18	4.18	0.49190	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	1	B;B	0.17268	0.012;0.021	B;B	0.14578	0.003;0.011	T	0.12451	-1.0547	9	0.45353	T	0.12	.	9.4034	0.38447	0.0:0.8862:0.0:0.1138	.	858;858	Q14160;Q14160-3	SCRIB_HUMAN;.	H	858;858;777;227	ENSP00000349486:R858H;ENSP00000322938:R858H;ENSP00000366756:R777H	ENSP00000322938:R858H	R	-	2	0	SCRIB	144959367	0.102000	0.21896	0.508000	0.27688	0.090000	0.18270	0.769000	0.26604	1.876000	0.54355	0.442000	0.29010	CGT	SCRIB	-	superfamily_PDZ		0.721	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144887379	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	0.109	T	T	144887379	C	T	144887379	3	4	85	1	0	0	0	0	1	0	0	0	13967	536	19	2	2470	2	SCRIB	8	144887379	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09		144887379	1476643	11	12792										
ARHGAP22	58504	genome.wustl.edu	37	chr10	49791043	49791043	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ttgtagtagaaaagctgatcCccacgcagcacaaaccagcg	9	12	0	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr10:49791043C>G	ENST00000249601.4	-	2	485	c.189G>C	c.(187-189)ggG>ggC	p.G63G	ARHGAP22_ENST00000417912.2_Silent_p.G63G|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Silent_p.G69G	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	63	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAAGCTGATCCCCACGCAGCA	0.597																																																	0													132	118	123					10																	49791043		2203	4300	6503	SO:0001819	synonymous_variant	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.189G>C	10.37:g.49791043C>G			A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G63	ENST00000249601.4	37	c.189	CCDS7227.1	10																																																																																			ARHGAP22	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP22	HGNC	protein_coding	OTTHUMT00000358767.1	C	NM_021226		49791043	-1	no_errors	ENST00000417912	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49791043	C	G	49791043	2	3	85	1	0	0	0	0	0	0	0	1	872	610	22	4		4	ARHGAP22	10	49791043	Silent	SNP	C	TCGA-EA-A556-01A-11D-A26G-09		49791043	85743704	12	12793										
ERCC6	2074	genome.wustl.edu	37	chr10	50740702	50740702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	agcactccctgttccagcacGtcctggtcatagacgtccac	8	16	1	1			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr10:50740702G>A	ENST00000355832.5	-	2	387	c.309C>T	c.(307-309)gaC>gaT	p.D103D	PGBD3_ENST00000603152.1_Silent_p.D103D|ERCC6-PGBD3_ENST00000447839.2_Silent_p.D103D|ERCC6-PGBD3_ENST00000515869.1_Silent_p.D103D	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	103					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTTCCAGCACGTCCTGGTCAT	0.612								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													140	116	124					10																	50740702		2203	4300	6503	SO:0001819	synonymous_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.309C>T	10.37:g.50740702G>A			D3DX94|Q5W0L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D103	ENST00000355832.5	37	c.309	CCDS7229.1	10																																																																																			ERCC6	-	NULL		0.612	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	G	NM_000124		50740702	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	silent	SNP	0.013	A	A	50740702	G	A	50740702	2	1	85	1	0	0	0	0	0	0	0	1	5229	1136	40	2		2	ERCC6	10	50740702	Silent	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	949659	50740702	84794045	13	12794										
PTEN	5728	genome.wustl.edu	37	chr10	89685305	89685306	+	Frame_Shift_Ins	INS	-	-	A													0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	cataaaaaccattacaagatINSatacaatctgtaagtatgtt							TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr10:89685305_89685306insA	ENST00000371953.3	+	3	1557_1558	c.200_201insA	c.(199-204)atatacfs	p.Y68fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> H (in CWS1 and BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9600246}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I67K(1)|p.I67T(1)|p.I67_Y68insY(1)|p.I67del(1)|p.V54fs*29(1)|p.I67R(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CATTACAAGATATACAATCTGT	0.277		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(6)|Substitution - Missense(3)|Deletion - In frame(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(13)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|urinary_tract(2)|breast(2)|stomach(1)|soft_tissue(1)	GRCh37	CM981666	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.201dupA	10.37:g.89685306_89685306dupA	ENSP00000361021:p.Tyr68fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y68fs	ENST00000371953.3	37	c.200_201	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.277	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	NM_000314		89685306	1	no_errors	ENST00000371953	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	89685306	-	A	89685305	7	5	85	1	0	1	1	0	0	0	0	0	12765	1406	49	0	210	0	PTEN	10	89685305	Frame_Shift_Ins	INS	-	TCGA-EA-A556-01A-11D-A26G-09	38944603	89685305	45849442	14	12795										
CHD4	1108	genome.wustl.edu	37	chr12	6701194	6701194	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	gggcattgagtgcttcaaaaTttcgagtgaggatgtacttg	13	5	1	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr12:6701194T>G	ENST00000357008.2	-	20	3141	c.2978A>C	c.(2977-2979)aAt>aCt	p.N993T	CHD4_ENST00000544040.1_Missense_Mutation_p.N986T|CHD4_ENST00000544484.1_Missense_Mutation_p.N990T|CHD4_ENST00000309577.6_Missense_Mutation_p.N993T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	993					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGCTTCAAAATTTCGAGTGAG	0.453																																					Colon(32;586 792 4568 16848 45314)												0													150	147	148					12																	6701194		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2978A>C	12.37:g.6701194T>G	ENSP00000349508:p.Asn993Thr		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N993T	ENST00000357008.2	37	c.2978	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528483	0.64860	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	4.59	4.59	0.56863	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.63843	1.955	0.80722	D	1	D;D;D	0.67145	0.989;0.995;0.996	P;D;D	0.76071	0.805;0.93;0.987	D	0.95395	0.8485	10	0.87932	D	0	.	14.1276	0.65233	0.0:0.0:0.0:1.0	.	993;993;986	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	990;986;993;993;967	ENSP00000440392:N990T;ENSP00000440542:N986T;ENSP00000312419:N993T;ENSP00000349508:N993T	ENSP00000312419:N993T	N	-	2	0	CHD4	6571455	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	7.816000	0.86201	1.913000	0.55393	0.460000	0.39030	AAT	CHD4	-	pfam_SNF2_N		0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		T	NM_001273		6701194	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6701194	T	G	6701194	3	3	85	1	0	0	0	0	1	0	0	0	3332	1493	52	5	2844	5	CHD4	12	6701194	Missense_Mutation	SNP	T	TCGA-EA-A556-01A-11D-A26G-09		6701194	127150701	15	12796										
KRT72	140807	genome.wustl.edu	37	chr12	52980755	52980755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ctcacagaatttggatattcGccagacatcctgaagaagga	9	9	1	4	rs140936315		TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr12:52980755G>A	ENST00000537672.2	-	8	1330	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	KRT72_ENST00000398066.3_Silent_p.G252G|KRT72_ENST00000354310.4_Silent_p.G398G|KRT72_ENST00000293745.2_Silent_p.G440G	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	440	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G440G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGGATATTCGCCAGACATCC	0.453																																																	1	Substitution - coding silent(1)	pancreas(1)						G	,,	0,4406		0,0,2203	115	103	107		1320,1194,1320	-6.6	0.8	12	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	440/512,398/470,440/512	52980755	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1320C>T	12.37:g.52980755G>A			B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G440	ENST00000537672.2	37	c.1320	CCDS8833.1	12																																																																																			KRT72	-	NULL		0.453	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	G	NM_080747		52980755	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	0.857	A	A	52980755	G	A	52980755	2	1	85	1	0	0	0	0	0	0	0	1	8505	1074	38	2		2	KRT72	12	52980755	Silent	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	46279561	52980755	80871140	16	12797										
GIT2	9815	genome.wustl.edu	37	chr12	110427511	110427511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	tcactgtactttatcctgtgGattagctttacgtcttccac	6	11	2	0			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr12:110427511G>T	ENST00000355312.3	-	3	282	c.283C>A	c.(283-285)Cca>Aca	p.P95T	GIT2_ENST00000354574.4_Missense_Mutation_p.P95T|GIT2_ENST00000547815.1_Missense_Mutation_p.P95T|GIT2_ENST00000343646.5_Missense_Mutation_p.P95T|GIT2_ENST00000361006.5_Missense_Mutation_p.P95T|GIT2_ENST00000360185.4_Missense_Mutation_p.P95T|GIT2_ENST00000551209.1_Missense_Mutation_p.P95T|GIT2_ENST00000553118.1_Missense_Mutation_p.P95T|GIT2_ENST00000457474.2_Missense_Mutation_p.P95T|GIT2_ENST00000320063.9_Missense_Mutation_p.P95T|GIT2_ENST00000356259.4_Missense_Mutation_p.P95T|GIT2_ENST00000338373.5_Missense_Mutation_p.P95T	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	95	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTATCCTGTGGATTAGCTTTA	0.393																																																	0													122	112	115					12																	110427511		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.283C>A	12.37:g.110427511G>T	ENSP00000347464:p.Pro95Thr		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.P95T	ENST00000355312.3	37	c.283	CCDS9138.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.193326	0.94960	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063;ENST00000551494	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.87	5.87	0.94306	Ankyrin repeat-containing domain (1);	0.093432	0.85682	D	0.000000	T	0.67050	0.2852	M	0.75150	2.29	0.80722	D	1	P;P;P;P;P;D;D	0.65815	0.753;0.863;0.815;0.815;0.924;0.96;0.995	P;P;P;P;P;P;D	0.73380	0.701;0.842;0.688;0.688;0.669;0.827;0.98	T	0.67601	-0.5629	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	95;95;95;95;95;95;95	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	T	95;95;95;95;95;95;95;95;95;95;33;95;95;9	ENSP00000347464:P95T;ENSP00000353312:P95T;ENSP00000346585:P95T;ENSP00000340342:P95T;ENSP00000340938:P95T;ENSP00000348595:P95T;ENSP00000391813:P95T;ENSP00000354282:P95T;ENSP00000447465:P95T;ENSP00000448832:P95T;ENSP00000450348:P95T;ENSP00000323833:P95T	ENSP00000323833:P95T	P	-	1	0	GIT2	108911894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCA	GIT2	-	pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP		0.393	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	G	NM_057169		110427511	-1	no_errors	ENST00000355312	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110427511	G	T	110427511	3	4	85	1	0	0	0	0	1	0	0	0	6416	1174	41	3	2106	3	GIT2	12	110427511	Missense_Mutation	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	57446756	110427511	23424384	17	12798										
NYNRIN	57523	genome.wustl.edu	37	chr14	24879175	24879175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	caggctggaaggcagggtccCcagtccagtggcaccttggc	15	13	0	0			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr14:24879175C>T	ENST00000382554.3	+	4	2493	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	725					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCAGGGTCCCCAGTCCAGTG	0.627																																																	0													25	29	28					14																	24879175		1967	4144	6111	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2175C>T	14.37:g.24879175C>T			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.P725	ENST00000382554.3	37	c.2175	CCDS45090.1	14																																																																																			NYNRIN	-	NULL		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24879175	1	no_errors	ENST00000382554	ensembl	human	known	70_37	silent	SNP	0.002	T	T	24879175	C	T	24879175	2	4	85	1	0	0	0	0	0	0	0	1	10820	610	22	4		4	NYNRIN	14	24879175	Silent	SNP	C	TCGA-EA-A556-01A-11D-A26G-09		24879175	82470365	18	12799										
AKAP5	9495	genome.wustl.edu	37	chr14	64936170	64936170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	aatcagtgaatttgatgttaCaaaatctaaaaatgtcccta	5	6	2	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr14:64936170C>T	ENST00000394718.4	+	2	1436	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.T353I|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	353					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TTTGATGTTACAAAATCTAAA	0.328																																																	0													90	103	98					14																	64936170		2203	4299	6502	SO:0001583	missense	9495			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1058C>T	14.37:g.64936170C>T	ENSP00000378207:p.Thr353Ile		A2RRB8	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif	p.T353I	ENST00000394718.4	37	c.1058	CCDS9764.1	14	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088882	0.20390	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.25085	1.82;1.82	5.51	1.4	0.22301	.	0.571549	0.16323	N	0.219492	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	1	B	0.27068	0.167	B	0.22386	0.039	T	0.19811	-1.0294	10	0.62326	D	0.03	-9.8958	13.1948	0.59732	0.5082:0.4918:0.0:0.0	.	353	P24588	AKAP5_HUMAN	I	353	ENSP00000378207:T353I;ENSP00000315615:T353I	ENSP00000315615:T353I	T	+	2	0	AKAP5	64005923	0.127000	0.22367	0.846000	0.33378	0.729000	0.41735	0.543000	0.23237	0.439000	0.26476	-0.346000	0.07831	ACA	AKAP5	-	NULL		0.328	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	HGNC	protein_coding	OTTHUMT00000268070.3	C			64936170	1	no_errors	ENST00000320636	ensembl	human	known	70_37	missense	SNP	0.085	T	T	64936170	C	T	64936170	3	4	85	1	0	0	0	0	1	0	0	0	454	478	17	4	1060	4	AKAP5	14	64936170	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09	40056995	64936170	42413370	19	12800										
MAP1A	4130	genome.wustl.edu	37	chr15	43814937	43814937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	aaagacaaggagaaaaaagaGatcaaaaaggagaggaaaga	12	2	1	5			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr15:43814937G>C	ENST00000300231.5	+	4	1716	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	MAP1A_ENST00000399453.1_Missense_Mutation_p.E422D|MAP1A_ENST00000382031.1_Missense_Mutation_p.E660D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	422	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	agaaaaaagagatcaaaaagg	0.418																																																	0													33	34	34					15																	43814937		1838	4090	5928	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1266G>C	15.37:g.43814937G>C	ENSP00000300231:p.Glu422Asp		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E422D	ENST00000300231.5	37	c.1266	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721612	0.30503	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.19938	2.11;2.11;2.11	5.4	5.4	0.78164	.	0.000000	0.34507	N	0.003920	T	0.30417	0.0764	M	0.71581	2.175	0.40048	D	0.975732	P	0.51537	0.946	P	0.48677	0.586	T	0.04203	-1.0969	10	0.54805	T	0.06	-17.5847	9.2878	0.37769	0.073:0.0:0.7817:0.1453	.	422	P78559	MAP1A_HUMAN	D	660;422;422;422	ENSP00000371462:E660D;ENSP00000382380:E422D;ENSP00000300231:E422D	ENSP00000300231:E422D	E	+	3	2	MAP1A	41602229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.111000	0.41883	2.833000	0.97629	0.650000	0.86243	GAG	MAP1A	-	NULL		0.418	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43814937	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43814937	G	C	43814937	3	2	85	1	0	0	0	0	1	0	0	0	9250	933	33	1	1268	1	MAP1A	15	43814937	Missense_Mutation	SNP	G	TCGA-EA-A556-01A-11D-A26G-09		43814937	58716455	20	12801										
FBN1	2200	genome.wustl.edu	37	chr15	48760655	48760655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	agttcaaaatcaggtgggcaGtcacagatatagctgcctgg	12	8	3	1			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr15:48760655G>A	ENST00000316623.5	-	37	4991	c.4536C>T	c.(4534-4536)gaC>gaT	p.D1512D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1512	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTGGGCAGTCACAGATAT	0.438																																																	0													122	101	108					15																	48760655		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4536C>T	15.37:g.48760655G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.D1512	ENST00000316623.5	37	c.4536	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	G			48760655	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	silent	SNP	0.238	A	A	48760655	G	A	48760655	2	1	85	1	0	0	0	0	0	0	0	1	5720	1020	36	4		4	FBN1	15	48760655	Silent	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	4945718	48760655	53770737	21	12802										
CCPG1	9236	genome.wustl.edu	37	chr15	55653051	55653051	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	aggatactcttaaatactgaTtttctgtagcaaggttcgtt	8	6	2	1			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr15:55653051T>A	ENST00000310958.6	-	8	1218	c.920A>T	c.(919-921)aAt>aTt	p.N307I	CCPG1_ENST00000425574.3_Missense_Mutation_p.N307I|CCPG1_ENST00000569205.1_Missense_Mutation_p.N307I|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.N307I	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	307	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TAAATACTGATTTTCTGTAGC	0.348																																																	0													76	71	73					15																	55653051		1816	4079	5895	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.920A>T	15.37:g.55653051T>A	ENSP00000311656:p.Asn307Ile		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.N307I	ENST00000310958.6	37	c.920	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962917	0.74016	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.39406	1.15;1.15;1.08	5.72	5.72	0.89469	.	0.086978	0.85682	D	0.000000	T	0.65770	0.2723	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.67428	-0.5673	10	0.48119	T	0.1	.	15.484	0.75551	0.0:0.0:0.0:1.0	.	307;307;307;307;163	A8K9T0;Q9ULG6-3;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;.;CCPG1_HUMAN;.	I	307	ENSP00000311656:N307I;ENSP00000403400:N307I;ENSP00000415128:N307I	ENSP00000311656:N307I	N	-	2	0	DYX1C1	53440343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.034000	0.76511	2.299000	0.77371	0.528000	0.53228	AAT	CCPG1	-	NULL		0.348	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	T	NM_004748		55653051	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55653051	T	A	55653051	3	1	85	1	0	0	0	0	1	0	0	0	2943	1493	52	5	1357	5	CCPG1	15	55653051	Missense_Mutation	SNP	T	TCGA-EA-A556-01A-11D-A26G-09	6892396	55653051	46878341	22	12803										
UACA	55075	genome.wustl.edu	37	chr15	70959464	70959464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ttcttcttccttttctctcaAgctggcttttatgattccaa	4	11	4	1			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr15:70959464A>G	ENST00000322954.6	-	16	3744	c.3559T>C	c.(3559-3561)Ttg>Ctg	p.L1187L	UACA_ENST00000560441.1_Silent_p.L1172L|UACA_ENST00000379983.2_Silent_p.L1174L|UACA_ENST00000539319.1_Silent_p.L1078L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1187					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTTCTCTCAAGCTGGCTTTT	0.368																																																	0													149	144	146					15																	70959464		2199	4298	6497	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3559T>C	15.37:g.70959464A>G			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L1187	ENST00000322954.6	37	c.3559	CCDS10235.1	15																																																																																			UACA	-	NULL		0.368	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	A			70959464	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	0.061	G	G	70959464	A	G	70959464	2	3	85	1	0	0	0	0	0	0	0	1	16855	69	3	5		5	UACA	15	70959464	Silent	SNP	A	TCGA-EA-A556-01A-11D-A26G-09	15306413	70959464	31571928	23	12804										
OTOA	146183	genome.wustl.edu	37	chr16	21742211	21742211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ggacttgggaccctttctagTacttttctcaggagatgaat	10	8	2	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr16:21742211T>C	ENST00000286149.4	+	20	2304	c.2303T>C	c.(2302-2304)gTa>gCa	p.V768A	OTOA_ENST00000388958.3_Missense_Mutation_p.V754A|OTOA_ENST00000388957.3_Missense_Mutation_p.V430A|OTOA_ENST00000388956.4_Missense_Mutation_p.V675A			Q7RTW8	OTOAN_HUMAN	otoancorin	768					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCCTTTCTAGTACTTTTCTCA	0.443																																																	0													59	50	53					16																	21742211		2195	4279	6474	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2303T>C	16.37:g.21742211T>C	ENSP00000286149:p.Val768Ala		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.V768A	ENST00000286149.4	37	c.2303		16	.	.	.	.	.	.	.	.	.	.	T	0.439	-0.899394	0.02472	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.62232	2.56;2.56;2.56;0.04	4.11	0.586	0.17434	.	0.621797	0.15076	N	0.281916	T	0.38825	0.1055	L	0.28740	0.885	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.09377	0.003;0.004;0.002;0.003	T	0.28744	-1.0034	10	0.02654	T	1	-0.2871	5.9483	0.19232	0.0:0.3563:0.0:0.6437	.	768;675;430;754	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	A	754;768;675;430;163	ENSP00000373610:V754A;ENSP00000286149:V768A;ENSP00000373608:V675A;ENSP00000373609:V430A	ENSP00000286149:V768A	V	+	2	0	OTOA	21649712	0.000000	0.05858	0.004000	0.12327	0.993000	0.82548	-0.364000	0.07583	-0.019000	0.14055	0.496000	0.49642	GTA	OTOA	-	NULL		0.443	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	T			21742211	1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	0.015	C	C	21742211	T	C	21742211	3	2	85	1	0	0	0	0	1	0	0	0	11326	1638	57	5	2385	5	OTOA	16	21742211	Missense_Mutation	SNP	T	TCGA-EA-A556-01A-11D-A26G-09		21742211	68612542	24	12805										
CCDC11	4152	genome.wustl.edu	37	chr18	47792730	47792730	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	atcaccactttgggggtgggGcccttaacctcccgctgtac	11	14	1	0			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr18:47792730G>T	ENST00000591416.1	-	0	4905				CCDC11_ENST00000398545.4_Silent_p.G15G			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGGGGGTGGGGCCCTTAACCT	0.622																																																	0													99	108	105					18																	47792730		1968	4170	6138	SO:0001628	intergenic_variant	220136			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669		18.37:g.47792730G>T			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	NULL	p.G15	ENST00000591416.1	37	c.45	CCDS11943.1	18																																																																																			CCDC11	-	NULL		0.622	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255926.3	G	NM_015846		47792730	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	silent	SNP	0.996	T	T	47792730	G	T	47792730	1	4	85	0	1	0	0	0	0	0	0	0	2751	1190	42	4		4	CCDC11	18	47792730	IGR	SNP	G	TCGA-EA-A556-01A-11D-A26G-09		47792730	30284518	25	12806										
SERPINB7	8710	genome.wustl.edu	37	chr18	61449742	61449742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	tggccctggtccgcttgggcGctcaagatgactccctctct	11	15	2	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr18:61449742G>C	ENST00000398019.2	+	2	461	c.136G>C	c.(136-138)Gct>Cct	p.A46P	SERPINB7_ENST00000546027.1_Missense_Mutation_p.A46P|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A46P|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A46P	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	46					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCGCTTGGGCGCTCAAGATGA	0.473																																																	0													106	91	96					18																	61449742		2203	4300	6503	SO:0001583	missense	8710			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.136G>C	18.37:g.61449742G>C	ENSP00000381101:p.Ala46Pro		B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A46P	ENST00000398019.2	37	c.136	CCDS11988.1	18	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914638	0.33815	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D;D	0.91792	-2.91;-2.46;-2.46;-2.46;-2.47;-2.46;-2.91	5.88	2.78	0.32641	Serpin domain (3);	0.672301	0.13747	N	0.365564	D	0.97306	0.9119	H	0.98664	4.295	0.31324	N	0.68565	D;D	0.76494	0.998;0.999	D;D	0.72075	0.958;0.976	D	0.93973	0.7251	10	0.87932	D	0	.	9.2999	0.37838	0.0772:0.0:0.6539:0.2689	.	46;46	F5GZC0;O75635	.;SPB7_HUMAN	P	46	ENSP00000397301:A46P;ENSP00000337212:A46P;ENSP00000381101:A46P;ENSP00000444572:A46P;ENSP00000402362:A46P;ENSP00000444861:A46P;ENSP00000393947:A46P	ENSP00000337212:A46P	A	+	1	0	SERPINB7	59600722	0.993000	0.37304	0.021000	0.16686	0.017000	0.09413	2.512000	0.45485	0.806000	0.34183	0.491000	0.48974	GCT	SERPINB7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.473	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB7	HGNC	protein_coding	OTTHUMT00000134007.1	G	NM_003784		61449742	1	no_errors	ENST00000336429	ensembl	human	known	70_37	missense	SNP	0.436	C	C	61449742	G	C	61449742	3	2	85	1	0	0	0	0	1	0	0	0	14136	1087	38	2	138	2	SERPINB7	18	61449742	Missense_Mutation	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	13657012	61449742	16627506	26	12807										
WDR62	284403	genome.wustl.edu	37	chr19	36590358	36590358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	acgccaagcgcagctaccagCcccacggccgctgggcagag	13	17	0	1	rs200490970		TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chr19:36590358C>G	ENST00000270301.7	+	22	2578	c.2578C>G	c.(2578-2580)Ccc>Gcc	p.P860A	WDR62_ENST00000401500.2_Missense_Mutation_p.P860A			O43379	WDR62_HUMAN	WD repeat domain 62	860					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGCTACCAGCCCCACGGCCG	0.622																																																	0													37	37	37					19																	36590358		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2578C>G	19.37:g.36590358C>G	ENSP00000270301:p.Pro860Ala		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P860A	ENST00000270301.7	37	c.2578	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014613	0.75161	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.30448	1.53;1.53	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.52885	0.1762	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.45760	-0.9239	10	0.27082	T	0.32	-15.9409	14.4721	0.67523	0.0:1.0:0.0:0.0	.	860;860	O43379-4;O43379	.;WDR62_HUMAN	A	860	ENSP00000384792:P860A;ENSP00000270301:P860A	ENSP00000270301:P860A	P	+	1	0	WDR62	41282198	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.845000	0.62853	2.490000	0.84030	0.655000	0.94253	CCC	WDR62	-	NULL		0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	C	NM_015671		36590358	1	no_errors	ENST00000401500	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36590358	C	G	36590358	3	3	85	1	0	0	0	0	1	0	0	0	17344	739	26	4	2664	4	WDR62	19	36590358	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09		36590358	22538625	27	12808										
RPS4X	6191	genome.wustl.edu	37	chrX	71493751	71493751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	tcggggtagcggatggtgcgGgcatcatgagtcaccagatg	17	8	2	2			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chrX:71493751G>A	ENST00000316084.6	-	5	536	c.432C>T	c.(430-432)gcC>gcT	p.A144A	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	144					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GGATGGTGCGGGCATCATGAG	0.448																																																	0													61	50	54					X																	71493751		2203	4300	6503	SO:0001819	synonymous_variant	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"S ribosomal proteins"	10424	protein-coding gene	gene with protein product	"40S ribosomal protein S4, X isoform", "ribosomal protein S4X isoform", "single-copy abundant mRNA", "cell cycle gene 2"	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.432C>T	X.37:g.71493751G>A			P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Silent	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.A144	ENST00000316084.6	37	c.432	CCDS14418.1	X																																																																																			RPS4X	-	pfam_Ribosomal_S4e_central,pirsf_Ribosomal_S4e		0.448	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	G	NM_001007		71493751	-1	no_errors	ENST00000316084	ensembl	human	known	70_37	silent	SNP	0.995	A	A	71493751	G	A	71493751	2	1	85	1	0	0	0	0	0	0	0	1	13675	1219	43	4		4	RPS4X	23	71493751	Silent	SNP	G	TCGA-EA-A556-01A-11D-A26G-09		71493751	83776809	28	12809										
TAF9B	51616	genome.wustl.edu	37	chrX	77393273	77393273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	attaaggacttcagcctataGtttggagctgttaagcagta	10	6	1	0			TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chrX:77393273G>A	ENST00000341864.5	-	4	472	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	126					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TCAGCCTATAGTTTGGAGCTG	0.373																																																	0													81	72	75					X																	77393273		2203	4296	6499	SO:0001819	synonymous_variant	51616			AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.378C>T	X.37:g.77393273G>A			B2RUZ9|Q9Y2S3	Silent	SNP	pfam_TFIID-31,superfamily_Histone-fold	p.N126	ENST00000341864.5	37	c.378	CCDS35340.1	X																																																																																			TAF9B	-	pfam_TFIID-31		0.373	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9B	HGNC	protein_coding	OTTHUMT00000057308.1	G	NM_015975		77393273	-1	no_errors	ENST00000341864	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77393273	G	A	77393273	2	1	85	1	0	0	0	0	0	0	0	1	15566	1020	36	4		4	TAF9B	23	77393273	Silent	SNP	G	TCGA-EA-A556-01A-11D-A26G-09	5899522	77393273	77877287	29	12810										
SLC25A5	292	genome.wustl.edu	37	chrX	118603742	118603742	+	Missense_Mutation	SNP	A	A	C													0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ctggcgcggtaacctggccaAtgtcatcagatacttcccca					rs148294496		TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chrX:118603742A>C	ENST00000317881.8	+	2	346	c.230A>C	c.(229-231)aAt>aCt	p.N77T	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	77					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AACCTGGCCAATGTCATCAGA	0.493																																																	0													137	131	133					X																	118603742		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.230A>C	X.37:g.118603742A>C	ENSP00000360671:p.Asn77Thr		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.N77T	ENST00000317881.8	37	c.230	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874563	0.72180	.	.	ENSG00000005022	ENST00000317881	T	0.79141	-1.24	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.042780	0.85682	D	0.000000	D	0.86752	0.6008	M	0.79343	2.45	0.09310	P	0.999999815679	D	0.89917	1.0	D	0.76071	0.987	D	0.90798	0.4692	9	0.87932	D	0	.	12.1849	0.54231	1.0:0.0:0.0:0.0	.	77	P05141	ADT2_HUMAN	T	77	ENSP00000360671:N77T	ENSP00000360671:N77T	N	+	2	0	SLC25A5	118487770	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.811000	0.91954	1.622000	0.50330	0.430000	0.28490	AAT	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	A	NM_001152		118603742	1	no_errors	ENST00000317881	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118603742	A	C	118603742	3	2	85	1	0	0	0	0	1	0	0	0	14542	101	4	5	236	5	SLC25A5	23	118603742	Missense_Mutation	SNP	A	TCGA-EA-A556-01A-11D-A26G-09	41210469	118603742	36666818	30	12811	69	2								
SLC25A5	292	genome.wustl.edu	37	chrX	118603747	118603747	+	Missense_Mutation	SNP	A	A	T													0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	gcggtaacctggccaatgtcAtcagatacttccccacccag					rs141428607		TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chrX:118603747A>T	ENST00000317881.8	+	2	351	c.235A>T	c.(235-237)Atc>Ttc	p.I79F	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	79					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGCCAATGTCATCAGATACTT	0.493																																																	0													131	126	128					X																	118603747		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.235A>T	X.37:g.118603747A>T	ENSP00000360671:p.Ile79Phe		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.I79F	ENST00000317881.8	37	c.235	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400958	0.83120	.	.	ENSG00000005022	ENST00000317881	T	0.79749	-1.3	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.93550	3.43	0.09310	P	0.99999999248091	D	0.62365	0.991	P	0.58172	0.834	D	0.94173	0.7425	9	0.87932	D	0	.	12.1849	0.54231	1.0:0.0:0.0:0.0	.	79	P05141	ADT2_HUMAN	F	79	ENSP00000360671:I79F	ENSP00000360671:I79F	I	+	1	0	SLC25A5	118487775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.811000	0.91954	1.622000	0.50330	0.430000	0.28490	ATC	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	A	NM_001152		118603747	1	no_errors	ENST00000317881	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118603747	A	T	118603747	3	4	85	1	0	0	0	0	1	0	0	0	14542	217	8	5	241	5	SLC25A5	23	118603747	Missense_Mutation	SNP	A	TCGA-EA-A556-01A-11D-A26G-09	5	118603747	36666813	31	12812	69	2								
F9	2158	genome.wustl.edu	37	chrX	138633355	138633355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	0.992972793782615	0.413970588235294	1.32470588235294	0	1	1	0	ataacatcactcaaagcaccCaatcatttaatgacttcact	2	12	4	1	rs137852239		TCGA-EA-A556-01A-11D-A26G-09	TCGA-EA-A556-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1c425e47-7f54-4c68-9be6-d58b4b980740	e6f0f4ac-02bd-44c2-9190-a1f437b2f83c	g.chrX:138633355C>A	ENST00000218099.2	+	6	662	c.655C>A	c.(655-657)Caa>Aaa	p.Q219K	F9_ENST00000394090.2_Missense_Mutation_p.Q181K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	219					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TCAAAGCACCCAATCATTTAA	0.423																																																	0			GRCh37	CM940539	F9	M	rs137852239						142	120	127					X																	138633355		2203	4300	6503	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.655C>A	X.37:g.138633355C>A	ENSP00000218099:p.Gln219Lys		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.Q219K	ENST00000218099.2	37	c.655	CCDS14666.1	X	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.316758	0.00235	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.94417	-3.42;-3.42	5.31	-1.93	0.07594	Peptidase cysteine/serine, trypsin-like (1);	1.074810	0.07060	N	0.833529	D	0.86117	0.5856	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.72456	-0.4288	10	0.06891	T	0.86	.	4.6169	0.12432	0.1163:0.1992:0.5142:0.1703	.	181;219	Q5FBE1;P00740	.;FA9_HUMAN	K	219;181	ENSP00000218099:Q219K;ENSP00000377650:Q181K	ENSP00000218099:Q219K	Q	+	1	0	F9	138461021	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.347000	0.07750	-1.048000	0.03238	-0.218000	0.12543	CAA	F9	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_FX		0.423	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	C			138633355	1	no_errors	ENST00000218099	ensembl	human	known	70_37	missense	SNP	0.000	A	A	138633355	C	A	138633355	3	1	85	1	0	0	0	0	1	0	0	0	5366	595	21	4	677	4	F9	23	138633355	Missense_Mutation	SNP	C	TCGA-EA-A556-01A-11D-A26G-09	20029608	138633355	16637205	32	12813										
TP73	7161	genome.wustl.edu	37	chr1	3624293	3624293	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cctccaacaccgactaccccGgaccccaccactttgaggtc	6	20	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:3624293G>T	ENST00000378295.4	+	4	522	c.367G>T	c.(367-369)Gga>Tga	p.G123*	TP73_ENST00000378280.1_Nonsense_Mutation_p.G74*|TP73_ENST00000378288.4_Nonsense_Mutation_p.G74*|TP73_ENST00000354437.4_Nonsense_Mutation_p.G123*|TP73_ENST00000357733.3_Nonsense_Mutation_p.G123*|TP73_ENST00000378285.1_Nonsense_Mutation_p.G74*|TP73_ENST00000603362.1_Nonsense_Mutation_p.G123*|TP73_ENST00000604074.1_Nonsense_Mutation_p.G123*|TP73_ENST00000378290.4_Nonsense_Mutation_p.G52*|TP73_ENST00000346387.4_Nonsense_Mutation_p.G123*|TP73_ENST00000604479.1_Nonsense_Mutation_p.G123*	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	123					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGACTACCCCGGACCCCACCA	0.672																																																	0													60	56	57					1																	3624293		2202	4299	6501	SO:0001587	stop_gained	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.367G>T	1.37:g.3624293G>T	ENSP00000367545:p.Gly123*		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G123*	ENST00000378295.4	37	c.367	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.302238	0.98196	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2464	16.3935	0.83548	0.0:0.0:1.0:0.0	.	.	.	.	X	123;123;123;123;74;74;74;52	.	ENSP00000340740:G123X	G	+	1	0	TP73	3614153	1.000000	0.71417	0.770000	0.31555	0.759000	0.43091	9.676000	0.98643	2.096000	0.63516	0.491000	0.48974	GGA	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3624293	1	no_errors	ENST00000378295	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	3624293	G	T	3624293	4	4	86	1	0	0	0	0	0	1	0	0	16424	1117	39	2	420	2	TP73	1	3624293	Nonsense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		3624293	245626328	1	12814										
CTNNBIP1	56998	genome.wustl.edu	37	chr1	9932074	9932074	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cagcactcggaccttctgctGaatgtacatctcctccggac	8	15	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:9932074G>A	ENST00000377263.1	-	4	360	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	CTNNBIP1_ENST00000537447.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377256.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000400904.3_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377258.1_Nonsense_Mutation_p.Q17*	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	17					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)	p.Q17*(1)		cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTTCTGCTGAATGTACATC	0.627																																																	1	Substitution - Nonsense(1)	cervix(1)											121	107	112					1																	9932074		2203	4300	6503	SO:0001587	stop_gained	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4"	607758	"catenin, beta-interacting protein 1"			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.49C>T	1.37:g.9932074G>A	ENSP00000366474:p.Gln17*		Q5T4V2	Nonsense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.Q17*	ENST00000377263.1	37	c.49	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.876079	0.98986	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3223	17.5659	0.87919	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	.	Q	-	1	0	CTNNBIP1	9854661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.011000	0.93618	2.451000	0.82905	0.484000	0.47621	CAG	CTNNBIP1	-	pfam_ICAT,superfamily_ICAT		0.627	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	G	NM_020248		9932074	-1	no_errors	ENST00000377256	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	9932074	G	A	9932074	4	1	86	1	0	0	0	0	0	1	0	0	4022	1299	45	1	208	1	CTNNBIP1	1	9932074	Nonsense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	6307781	9932074	239318547	2	12815										
USP48	84196	genome.wustl.edu	37	chr1	22055105	22055105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gtacagctccttaacctcttCgtgttttgcttttcctttat	5	11	1	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:22055105C>T	ENST00000308271.9	-	11	2056	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	USP48_ENST00000400301.1_Missense_Mutation_p.E470K|USP48_ENST00000529637.1_Missense_Mutation_p.E469K|USP48_ENST00000421625.2_Missense_Mutation_p.E470K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	470	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTAACCTCTTCGTGTTTTGCT	0.423																																																	0													218	189	199					1																	22055105		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1408G>A	1.37:g.22055105C>T	ENSP00000309262:p.Glu470Lys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.E470K	ENST00000308271.9	37	c.1408	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.254232	0.95336	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.04970	3.53;3.52;3.52;3.64	5.84	5.84	0.93424	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.118844	0.64402	D	0.000006	T	0.12817	0.0311	L	0.60455	1.87	0.80722	D	1	D;B;D;P;B;B	0.57899	0.976;0.39;0.981;0.669;0.414;0.291	B;B;P;B;B;B	0.47134	0.353;0.053;0.539;0.116;0.031;0.009	T	0.00792	-1.1564	10	0.39692	T	0.17	.	17.2998	0.87180	0.0:1.0:0.0:0.0	.	469;470;470;470;470;470	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	K	470;470;469;56;92;470	ENSP00000383157:E470K;ENSP00000309262:E470K;ENSP00000431949:E469K;ENSP00000406256:E470K	ENSP00000309262:E470K	E	-	1	0	USP48	21927692	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GAA	USP48	-	NULL		0.423	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22055105	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22055105	C	T	22055105	3	4	86	1	0	0	0	0	1	0	0	0	17110	893	31	1	1775	1	USP48	1	22055105	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	12123031	22055105	227195516	3	12816										
CNKSR1	10256	genome.wustl.edu	37	chr1	26513934	26513934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cacccatgatgtgtacaaacCcttcatcttcgctgctgata	6	13	2	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:26513934C>A	ENST00000374253.5	+	16	1475	c.1436C>A	c.(1435-1437)cCc>cAc	p.P479H	CNKSR1_ENST00000531191.1_Missense_Mutation_p.P214H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P472H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	479	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTACAAACCCTTCATCTTC	0.552																																					NSCLC(180;1396 2109 28270 30756 34275)												0													170	148	156					1																	26513934		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1436C>A	1.37:g.26513934C>A	ENSP00000363371:p.Pro479His		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P479H	ENST00000374253.5	37	c.1436		1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286779	0.80803	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.11930	2.73;2.73;2.73	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.115114	0.56097	D	0.000021	T	0.33118	0.0852	L	0.44542	1.39	0.46981	D	0.999278	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01583	-1.1319	10	0.72032	D	0.01	-23.6731	19.5245	0.95199	0.0:1.0:0.0:0.0	.	479;472	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	472;479;214	ENSP00000354609:P472H;ENSP00000363371:P479H;ENSP00000431817:P214H	ENSP00000354609:P472H	P	+	2	0	CNKSR1	26386521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.818000	0.62657	2.608000	0.88229	0.655000	0.94253	CCC	CNKSR1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.552	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	C	NM_006314		26513934	1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26513934	C	A	26513934	3	1	86	1	0	0	0	0	1	0	0	0	3611	623	22	4	1477	4	CNKSR1	1	26513934	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	4458829	26513934	222736687	4	12817										
COL9A2	1298	genome.wustl.edu	37	chr1	40773118	40773118	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tggctccacctgacacttacCgctaggccctggtggcctgg	12	15	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:40773118C>T	ENST00000372748.3	-	19	1104	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	336	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGACACTTACCGCTAGGCCCT	0.582																																																	0													32	34	33					1																	40773118		2203	4300	6503	SO:0001630	splice_region_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1008+1G>A	1.37:g.40773118C>T			B2RMP9	Silent	SNP	pfam_Collagen	p.A336	ENST00000372748.3	37	c.1008	CCDS450.1	1																																																																																			COL9A2	-	NULL		0.582	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	C	NM_001852	Silent	40773118	-1	no_errors	ENST00000372748	ensembl	human	known	70_37	silent	SNP	0.992	T	T	40773118	C	T	40773118	5	4	86	1	0	0	0	0	0	0	1	0	3713	666	23	2	1117	2	COL9A2	1	40773118	Splice_Site	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	14259184	40773118	208477503	5	12818										
HRNR	388697	genome.wustl.edu	37	chr1	152188861	152188861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccaaagacagaagagtgaccCgagcgagactcatatgggcc	12	11	1	5	rs201735593		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:152188861C>T	ENST00000368801.2	-	3	5319	c.5244G>A	c.(5242-5244)tcG>tcA	p.S1748S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1748					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCCGAGCGAGACT	0.587																																																	0													1	1	1					1																	152188861		382	899	1281	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5244G>A	1.37:g.152188861C>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1748	ENST00000368801.2	37	c.5244	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188861	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	T	T	152188861	C	T	152188861	2	4	86	1	0	0	0	0	0	0	0	1	7379	639	23	2		2	HRNR	1	152188861	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	111415743	152188861	97061760	6	12819										
RC3H1	149041	genome.wustl.edu	37	chr1	173915654	173915654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tctgctggctaatctgatggTtcaattgctgcaattctagt	9	8	4	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:173915654T>A	ENST00000367696.2	-	17	3272	c.2921A>T	c.(2920-2922)aAc>aTc	p.N974I	RC3H1_ENST00000367694.2_Missense_Mutation_p.N974I|RC3H1_ENST00000258349.4_Missense_Mutation_p.N974I			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	974					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AATCTGATGGTTCAATTGCTG	0.438																																																	0													156	141	146					1																	173915654		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2921A>T	1.37:g.173915654T>A	ENSP00000356669:p.Asn974Ile		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.N974I	ENST00000367696.2	37	c.2921	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652574	0.88056	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.51574	0.7;0.7;0.78	5.5	5.5	0.81552	.	0.042809	0.85682	D	0.000000	T	0.44726	0.1307	L	0.39898	1.24	0.53688	D	0.999979	P;P;D;P	0.53885	0.938;0.938;0.963;0.938	P;P;P;P	0.54759	0.58;0.58;0.76;0.58	T	0.50311	-0.8843	10	0.87932	D	0	-16.8557	15.6207	0.76805	0.0:0.0:0.0:1.0	.	974;974;974;974	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	I	974	ENSP00000356669:N974I;ENSP00000258349:N974I;ENSP00000356667:N974I	ENSP00000258349:N974I	N	-	2	0	RC3H1	172182277	1.000000	0.71417	0.997000	0.53966	0.776000	0.43924	7.698000	0.84413	2.092000	0.63282	0.533000	0.62120	AAC	RC3H1	-	NULL		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	T	NM_172071		173915654	-1	no_errors	ENST00000258349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173915654	T	A	173915654	3	1	86	1	0	0	0	0	1	0	0	0	13196	1725	60	5	496	5	RC3H1	1	173915654	Missense_Mutation	SNP	T	TCGA-EA-A5FO-01A-21D-A28B-09	21726793	173915654	75334967	7	12820										
IGFN1	91156	genome.wustl.edu	37	chr1	201176060	201176060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tggcaccctggagcttactgGaggaagaggttctggctcca	14	10	1	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr1:201176060G>A	ENST00000335211.4	+	12	2169	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GAGCTTACTGGAGGAAGAGGT	0.612																																																	0													60	65	64					1																	201176060		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.2039G>A	1.37:g.201176060G>A	ENSP00000334714:p.Gly680Glu		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G680E	ENST00000335211.4	37	c.2039	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112474	0.56398	.	.	ENSG00000163395	ENST00000335211	T	0.57107	0.42	4.14	3.19	0.36642	.	.	.	.	.	T	0.31167	0.0788	N	0.08118	0	0.25632	N	0.9863	.	.	.	.	.	.	T	0.19877	-1.0292	6	.	.	.	.	9.4112	0.38494	0.0:0.218:0.782:0.0	.	.	.	.	E	680	ENSP00000334714:G680E	.	G	+	2	0	IGFN1	199442683	0.009000	0.17119	0.069000	0.20011	0.641000	0.38312	1.073000	0.30691	0.899000	0.36444	0.655000	0.94253	GGA	IGFN1	-	NULL		0.612	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201176060	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.032	A	A	201176060	G	A	201176060	3	1	86	1	0	0	0	0	1	0	0	0	7610	1174	41	1	2081	1	IGFN1	1	201176060	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	27260406	201176060	48074561	8	12821										
SRD5A2	6716	genome.wustl.edu	37	chr2	31805820	31805820	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ctcctgcaggaaccaggcggCgcgggctggcaggcgggtag	19	12	0	0	rs61748123		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:31805820C>T	ENST00000405650.1	-	0	316							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AACCAGGCGGCGCGGGCTGGC	0.711																																																	0													12	17	15					2																	31805820		1900	4096	5996			6716			M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805820C>T			B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	-	NULL	ENST00000405650.1	37	NULL		2																																																																																			SRD5A2	-	-		0.711	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	SRD5A2	HGNC	processed_transcript	OTTHUMT00000325124.1	C	NM_000348		31805820	-1	no_errors	ENST00000233139	ensembl	human	known	70_37	rna	SNP	0.185	T	T	31805820	C	T	31805820	1	4	86	0	1	0	0	0	0	0	0	0	15169	755	27	2		2	SRD5A2	2	31805820	RNA	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		31805820	211393553	9	12822										
DNAH6	1768	genome.wustl.edu	37	chr2	85012777	85012777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cttacgtgcaaatatcagacGagcatttactgaaatgacac	7	9	1	3	rs200079931		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:85012777G>A	ENST00000237449.6	+	66	11005	c.10997G>A	c.(10996-10998)cGa>cAa	p.R3666Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.R3666Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3666	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATATCAGACGAGCATTTACT	0.328													G|||	1	0.000199681	8e-04	0	5008	,	,		20800	0		0	False		,,,				2504	0																0								G	GLN/ARG	2,1382		0,2,690	144	120	127		10997	5.6	1	2		127	1,3181		0,1,1590	yes	missense	DNAH6	NM_001370.1	43	0,3,2280	AA,AG,GG		0.0314,0.1445,0.0657	probably-damaging	3666/4159	85012777	3,4563	692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.10997G>A	2.37:g.85012777G>A	ENSP00000237449:p.Arg3666Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3666Q	ENST00000237449.6	37	c.10997	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905805	0.92107	0.001445	3.14E-4	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.09911	2.93;2.93	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.64402	D	0.000014	T	0.30759	0.0775	M	0.73217	2.22	0.80722	D	1	D;D	0.64830	0.994;0.966	P;B	0.62491	0.903;0.411	T	0.00440	-1.1738	10	0.46703	T	0.11	.	17.1282	0.86720	0.0:0.0:1.0:0.0	.	3666;425	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	Q	3666	ENSP00000374045:R3666Q;ENSP00000237449:R3666Q	ENSP00000237449:R3666Q	R	+	2	0	DNAH6	84866288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.490000	0.73645	2.643000	0.89663	0.462000	0.41574	CGA	DNAH6	-	pfam_Dynein_heavy_dom		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		85012777	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85012777	G	A	85012777	3	1	86	1	0	0	0	0	1	0	0	0	4615	1058	37	1	11259	1	DNAH6	2	85012777	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	53206957	85012777	158186596	10	12823										
BCL2L11	10018	genome.wustl.edu	37	chr2	111921762	111921763	+	Frame_Shift_Ins	INS	-	-	A													0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cacccacgaatggttatcttINSacgactgttacgttacattg							TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:111921762_111921763insA	ENST00000393256.3	+	4	824_825	c.551_552insA	c.(550-555)ttacgafs	p.R185fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.R125fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						ATGGTTATCTTACGACTGTTAC	0.436																																																	0																																										SO:0001589	frameshift_variant	10018			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.552dupA	2.37:g.111921763_111921763dupA	ENSP00000376943:p.Arg185fs		A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Ins	INS	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.R185fs	ENST00000393256.3	37	c.551_552	CCDS2089.1	2																																																																																			BCL2L11	-	pirsf_Bcl-2-like_11		0.436	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	-			111921763	1	no_errors	ENST00000393256	ensembl	human	known	70_37	frame_shift_ins	INS	0.960:0.922	A	A	111921763	-	A	111921762	7	5	86	1	0	1	1	0	0	0	0	0	1370	1764	61	0	690	0	BCL2L11	2	111921762	Frame_Shift_Ins	INS	-	TCGA-EA-A5FO-01A-21D-A28B-09	26908985	111921762	131277611	11	12824										
CHRND	1144	genome.wustl.edu	37	chr2	233394711	233394711	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	acgtggaccccagagcccctCtggacagccccagccgccag	11	19	1	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr2:233394711C>T	ENST00000258385.3	+	7	714	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	CHRND_ENST00000543200.1_Silent_p.L213L|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.S191F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	228					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGAGCCCCTCTGGACAGCCC	0.627																																																	0													122	106	112					2																	233394711		2203	4300	6503	SO:0001819	synonymous_variant	1144			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.682C>T	2.37:g.233394711C>T			A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S191F	ENST00000258385.3	37	c.572	CCDS2494.1	2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061736	0.55432	.	.	ENSG00000135902	ENST00000536614	T	0.73363	-0.74	5.02	3.15	0.36227	.	.	.	.	.	T	0.72906	0.3519	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.63256	-0.6678	6	0.56958	D	0.05	.	8.8727	0.35325	0.2715:0.6565:0.0:0.072	.	.	.	.	F	191	ENSP00000437740:S191F	ENSP00000408819:S191F	S	+	2	0	CHRND	233102955	0.000000	0.05858	0.588000	0.28705	0.986000	0.74619	1.117000	0.31234	0.599000	0.29845	0.655000	0.94253	TCT	CHRND	-	NULL		0.627	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	C			233394711	1	no_errors	ENST00000441621	ensembl	human	known	70_37	missense	SNP	0.037	T	T	233394711	C	T	233394711	2	4	86	1	0	0	0	0	0	0	0	1	3399	912	32	1		1	CHRND	2	233394711	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	121472949	233394711	9804662	12	12825										
EFHB	151651	genome.wustl.edu	37	chr3	19926048	19926048	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	atcttctggctttatgaggaGagtttgttcaggttcttcaa	10	6	5	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:19926048G>A	ENST00000295824.9	-	11	2154	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	EFHB_ENST00000344838.4_Missense_Mutation_p.L535F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	665							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTTATGAGGAGAGTTTGTTCA	0.368																																																	0													143	148	146					3																	19926048		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1993C>T	3.37:g.19926048G>A	ENSP00000295824:p.Leu665Phe		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L665F	ENST00000295824.9	37	c.1993	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	G	9.711	1.156965	0.21454	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.26067	1.76;1.84	5.92	4.01	0.46588	.	0.276252	0.29246	N	0.012705	T	0.17746	0.0426	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.14023	0.01;0.005	T	0.14699	-1.0463	9	.	.	.	-7.0896	7.8095	0.29221	0.0857:0.162:0.7523:0.0	.	535;665	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	F	665;535	ENSP00000295824:L665F;ENSP00000342263:L535F	.	L	-	1	0	EFHB	19901052	0.522000	0.26266	0.899000	0.35326	0.426000	0.31534	1.151000	0.31651	1.482000	0.48325	0.650000	0.86243	CTC	EFHB	-	NULL		0.368	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	G	NM_144715		19926048	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	0.069	A	A	19926048	G	A	19926048	3	1	86	1	0	0	0	0	1	0	0	0	4955	942	33	1	520	1	EFHB	3	19926048	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		19926048	178096382	13	12826										
HTR1F	3355	genome.wustl.edu	37	chr3	88040000	88040000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cctcactctgtctgggctggCactgatgacaacaactatca	8	13	4	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:88040000C>A	ENST00000319595.4	+	1	155	c.101C>A	c.(100-102)gCa>gAa	p.A34E		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	34					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTGGGCTGGCACTGATGACA	0.433																																																	0													149	145	146					3																	88040000		2203	4300	6503	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.101C>A	3.37:g.88040000C>A	ENSP00000322924:p.Ala34Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.A34E	ENST00000319595.4	37	c.101	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833040	0.71258	.	.	ENSG00000179097	ENST00000319595	T	0.38560	1.13	5.5	4.62	0.57501	.	0.054004	0.64402	D	0.000001	T	0.36496	0.0969	N	0.08118	0	0.45076	D	0.998094	D	0.59767	0.986	P	0.55455	0.776	T	0.43410	-0.9393	10	0.87932	D	0	.	11.9433	0.52913	0.0:0.9157:0.0:0.0843	.	34	P30939	5HT1F_HUMAN	E	34	ENSP00000322924:A34E	ENSP00000322924:A34E	A	+	2	0	HTR1F	88122690	1.000000	0.71417	0.668000	0.29813	0.981000	0.71138	7.776000	0.85560	1.340000	0.45581	0.585000	0.79938	GCA	HTR1F	-	pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.433	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	C	NM_000866		88040000	1	no_errors	ENST00000319595	ensembl	human	known	70_37	missense	SNP	0.998	A	A	88040000	C	A	88040000	3	1	86	1	0	0	0	0	1	0	0	0	7460	710	25	4	103	4	HTR1F	3	88040000	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	68113952	88040000	109982430	14	12827										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	86	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	90896091	178936091	19086339	15	12828										
LSG1	55341	genome.wustl.edu	37	chr3	194373732	194373732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	actcactgtcatcttcatccGttgtgggattttcactaagt	7	10	5	0	rs375975830		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr3:194373732G>A	ENST00000265245.5	-	8	1213	c.899C>T	c.(898-900)aCg>aTg	p.T300M		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	300	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATCTTCATCCGTTGTGGGATT	0.502																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	119	107	111		899	3.2	0	3		111	0,8600		0,0,4300	no	missense	LSG1	NM_018385.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	300/659	194373732	1,13005	2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.899C>T	3.37:g.194373732G>A	ENSP00000265245:p.Thr300Met		A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.T300M	ENST00000265245.5	37	c.899	CCDS33922.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.459770|2.459770	0.43736|0.43736	2.27E-4|2.27E-4	0.0|0.0	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|T	.|0.44482	.|0.92	5.0|5.0	3.2|3.2	0.36748|0.36748	.|.	.|0.823847	.|0.11408	.|N	.|0.567049	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.54397	.|0.966	.|B	.|0.40329	.|0.326	T|T	0.04307|0.04307	-1.0961|-1.0961	5|10	.|0.48119	.|T	.|0.1	.|.	6.8401|6.8401	0.23957|0.23957	0.0:0.4782:0.4208:0.1009|0.0:0.4782:0.4208:0.1009	.|.	.|300	.|Q9H089	.|LSG1_HUMAN	W|M	34|300	.|ENSP00000265245:T300M	.|ENSP00000265245:T300M	R|T	-|-	1|2	2|0	LSG1|LSG1	195855021|195855021	0.002000|0.002000	0.14202|0.14202	0.014000|0.014000	0.15608|0.15608	0.020000|0.020000	0.10135|0.10135	0.272000|0.272000	0.18644|0.18644	1.424000|1.424000	0.47217|0.47217	0.655000|0.655000	0.94253|0.94253	CGG|ACG	LSG1	-	NULL		0.502	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	G	NM_018385		194373732	-1	no_errors	ENST00000265245	ensembl	human	known	70_37	missense	SNP	0.004	A	A	194373732	G	A	194373732	3	1	86	1	0	0	0	0	1	0	0	0	9072	1145	40	2	1105	2	LSG1	3	194373732	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	15437641	194373732	3648698	16	12829										
C4orf44	345222	genome.wustl.edu	37	chr4	3251157	3251157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	acgagctcaagcagaccaagCgcaacgccaaggtgtacgag	12	12	1	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr4:3251157C>T	ENST00000438480.2	+	1	1955	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	MSANTD1_ENST00000510580.1_Missense_Mutation_p.R70C|MSANTD1_ENST00000507492.1_Missense_Mutation_p.R57C	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	70	Myb-like.									endometrium(1)|lung(2)	3						GCAGACCAAGCGCAACGCCAA	0.622																																																	0													42	42	42					4																	3251157		2201	4298	6499	SO:0001583	missense	345222				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.208C>T	4.37:g.3251157C>T	ENSP00000411584:p.Arg70Cys		C9J6V0	Missense_Mutation	SNP	NULL	p.R70C	ENST00000438480.2	37	c.208	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020640	0.75275	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	T;T;T	0.52526	0.66;0.66;0.66	4.68	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.95	T	0.64097	-0.6487	10	0.87932	D	0	.	11.722	0.51688	0.259:0.741:0.0:0.0	.	70;70	D6RD98;Q6ZTZ1	.;CD044_HUMAN	C	57;70;70	ENSP00000423547:R57C;ENSP00000411584:R70C;ENSP00000420966:R70C	ENSP00000411584:R70C	R	+	1	0	C4orf44	3220955	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.731000	0.55013	2.140000	0.66376	0.591000	0.81541	CGC	MSANTD1	-	NULL		0.622	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1	C	NM_001012982		3251157	1	no_errors	ENST00000438480	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3251157	C	T	3251157	3	4	86	1	0	0	0	0	1	0	0	0	2277	768	27	2	210	2	C4orf44	4	3251157	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		3251157	187903119	17	12830										
DAPP1	27071	genome.wustl.edu	37	chr4	100774415	100774415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	catccctacccaagaaaagtGgaagaaccctccatttatga	6	12	0	3			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr4:100774415G>A	ENST00000512369.1	+	4	467	c.399G>A	c.(397-399)gtG>gtA	p.V133V	DAPP1_ENST00000296414.7_Silent_p.V133V	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	133					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CAAGAAAAGTGGAAGAACCCT	0.443																																																	0													106	98	101					4																	100774415		1897	4111	6008	SO:0001819	synonymous_variant	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.399G>A	4.37:g.100774415G>A			Q8TCK5|Q9UHF2	Silent	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.V133	ENST00000512369.1	37	c.399	CCDS47112.1	4																																																																																			DAPP1	-	NULL		0.443	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	G			100774415	1	no_errors	ENST00000512369	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100774415	G	A	100774415	2	1	86	1	0	0	0	0	0	0	0	1	4244	1335	47	4		4	DAPP1	4	100774415	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	97523258	100774415	90379861	18	12831										
SLC35A4	113829	genome.wustl.edu	37	chr5	139947395	139947395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gctgctcatgaagcgacagcGgctgcccctggcacttcaga	12	14	2	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr5:139947395G>A	ENST00000514199.1	+	2	2327	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R214Q			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	214	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCGACAGCGGCTGCCCCTG	0.577																																																	0													80	83	82					5																	139947395		2203	4300	6503	SO:0001583	missense	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.641G>A	5.37:g.139947395G>A	ENSP00000424566:p.Arg214Gln		A8K013	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr	p.R214Q	ENST00000514199.1	37	c.641	CCDS4231.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.389|6.389	0.439905|0.439905	0.12104|0.12104	.|.	.|.	ENSG00000176087|ENSG00000176087	ENST00000432254|ENST00000323146;ENST00000514199	.|T;T	.|0.40756	.|1.02;1.02	4.68|4.68	1.7|1.7	0.24286|0.24286	.|.	.|0.791526	.|0.11532	.|N	.|0.554555	.|T	.|0.21761	.|0.0524	N|N	0.17082|0.17082	0.46|0.46	0.27273|0.27273	N|N	0.958317|0.958317	.|B	.|0.18461	.|0.028	.|B	.|0.14578	.|0.011	.|T	.|0.20638	.|-1.0269	.|9	.|.	.|.	.|.	.|-21.764	3.7395|3.7395	0.08524|0.08524	0.4316:0.1838:0.3845:0.0|0.4316:0.1838:0.3845:0.0	.|.	.|214	.|Q96G79	.|S35A4_HUMAN	.|Q	-1|214	.|ENSP00000327133:R214Q;ENSP00000424566:R214Q	.|.	.|R	+|+	.|2	.|0	SLC35A4|SLC35A4	139927579|139927579	0.053000|0.053000	0.20554|0.20554	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.109000|0.109000	0.15417|0.15417	0.593000|0.593000	0.29745|0.29745	-0.369000|-0.369000	0.07265|0.07265	.|CGG	SLC35A4	-	pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr		0.577	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35A4	HGNC	protein_coding	OTTHUMT00000372815.1	G	NM_080670		139947395	1	no_errors	ENST00000323146	ensembl	human	known	70_37	missense	SNP	0.990	A	A	139947395	G	A	139947395	3	1	86	1	0	0	0	0	1	0	0	0	14603	1116	39	2	643	2	SLC35A4	5	139947395	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		139947395	40967865	19	12832										
PCDHGA1	56114	genome.wustl.edu	37	chr5	140711085	140711085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ggagccaatggggaagtaacGtactcctttcacaatgtaga	11	8	1	1	rs115965295	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr5:140711085G>A	ENST00000517417.1	+	1	834	c.834G>A	c.(832-834)acG>acA	p.T278T	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.T278T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGTAACGTACTCCTTTC	0.433													G|||	3	0.000599042	0.0023	0	5008	,	,		22090	0		0	False		,,,				2504	0																0								G	,	0,4406		0,0,2203	66	67	67		834,834	-1.7	0.9	5	dbSNP_132	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	278/932,278/824	140711085	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.834G>A	5.37:g.140711085G>A			Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T278	ENST00000517417.1	37	c.834	CCDS54922.1	5																																																																																			PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	G	NM_018912		140711085	1	no_errors	ENST00000517417	ensembl	human	known	70_37	silent	SNP	0.963	A	A	140711085	G	A	140711085	2	1	86	1	0	0	0	0	0	0	0	1	11574	1132	40	2		2	PCDHGA1	5	140711085	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	763690	140711085	40204175	20	12833										
PCDHGB6	56100	genome.wustl.edu	37	chr5	140789450	140789450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	accgcaatgacaacgcaccgCgggtgctgtacccagctctg	11	15	1	1	rs530193346		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr5:140789450C>T	ENST00000520790.1	+	1	1681	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCACCGCGGGTGCTGTA	0.657																																																	0													24	32	29					5																	140789450		2087	4221	6308	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1681C>T	5.37:g.140789450C>T	ENSP00000428603:p.Arg561Trp		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R561W	ENST00000520790.1	37	c.1681	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	c	14.82	2.648098	0.47258	.	.	ENSG00000253305	ENST00000520790	T	0.01767	4.65	5.36	-2.17	0.07059	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.07369	0.0186	M	0.75264	2.295	0.09310	N	1	D;D	0.89917	1.0;1.0	P;D	0.64042	0.836;0.921	T	0.06006	-1.0851	9	0.66056	D	0.02	.	11.6764	0.51432	0.2165:0.6285:0.155:0.0	.	561;561	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	W	561	ENSP00000428603:R561W	ENSP00000428603:R561W	R	+	1	2	PCDHGB6	140769634	0.000000	0.05858	0.086000	0.20670	0.760000	0.43138	-0.793000	0.04589	-0.314000	0.08716	0.462000	0.41574	CGG	PCDHGB6	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.657	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	C	NM_018926		140789450	1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140789450	C	T	140789450	3	4	86	1	0	0	0	0	1	0	0	0	11591	759	27	2	1683	2	PCDHGB6	5	140789450	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	78365	140789450	40125810	21	12834										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34827294	34827294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	taaggatgccttcagtttggGcagagatcgaatgacctcca	11	9	1	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:34827294G>A	ENST00000192788.5	+	14	3332	c.3161G>A	c.(3160-3162)gGc>gAc	p.G1054D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.G1054D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1054							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCAGTTTGGGCAGAGATCGA	0.532																																																	0													118	121	120					6																	34827294		2115	4225	6340	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3161G>A	6.37:g.34827294G>A	ENSP00000192788:p.Gly1054Asp		Q9NXE0	Missense_Mutation	SNP	NULL	p.G1054D	ENST00000192788.5	37	c.3161	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830553	0.32329	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08896	3.05;3.04	5.47	5.47	0.80525	.	0.514144	0.22187	N	0.063430	T	0.03739	0.0106	N	0.08118	0	0.39128	D	0.961792	D	0.53619	0.961	P	0.49637	0.617	T	0.58929	-0.7549	10	0.20046	T	0.44	-13.8929	17.5183	0.87780	0.0:0.0:1.0:0.0	.	1054	Q6BDS2	URFB1_HUMAN	D	1054	ENSP00000192788:G1054D;ENSP00000400628:G1054D	ENSP00000192788:G1054D	G	+	2	0	UHRF1BP1	34935272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.552000	0.86080	0.591000	0.81541	GGC	UHRF1BP1	-	NULL		0.532	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34827294	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34827294	G	A	34827294	3	1	86	1	0	0	0	0	1	0	0	0	16999	1203	42	4	3215	4	UHRF1BP1	6	34827294	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		34827294	136287773	22	12835										
EFHC1	114327	genome.wustl.edu	37	chr6	52344532	52344532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tattcaccagaagcactcgcGtcaattcagaaccatgtccg	7	13	3	2	rs377227885		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:52344532G>A	ENST00000371068.5	+	9	1690	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A	EFHC1_ENST00000433625.2_Silent_p.A438A|EFHC1_ENST00000538167.1_Silent_p.A510A	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	529						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.A529A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AAGCACTCGCGTCAATTCAGA	0.478																																																	1	Substitution - coding silent(1)	lung(1)						G	,	0,4406		0,0,2203	128	112	118		1530,1587	-6	0	6		118	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	EFHC1	NM_001172420.1,NM_018100.3	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	510/622,529/641	52344532	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1587G>A	6.37:g.52344532G>A			B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.A529	ENST00000371068.5	37	c.1587	CCDS4942.1	6																																																																																			EFHC1	-	NULL		0.478	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	HGNC	protein_coding	OTTHUMT00000040905.2	G	NM_018100		52344532	1	no_errors	ENST00000371068	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52344532	G	A	52344532	2	1	86	1	0	0	0	0	0	0	0	1	4956	1132	40	2		2	EFHC1	6	52344532	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	17517238	52344532	118770535	23	12836										
PLG	5340	genome.wustl.edu	37	chr6	161143598	161143598	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccccagaaaactacccaaatGcgtatgtctttgatttttac	5	11	1	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr6:161143598G>A	ENST00000308192.9	+	10	1318	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	419	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTACCCAAATGCGTATGTCTT	0.473																																																	0													110	110	110					6																	161143598		2203	4300	6503	SO:0001630	splice_region_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1256+1G>A	6.37:g.161143598G>A			Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A419T	ENST00000308192.9	37	c.1255	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061465	0.76187	.	.	ENSG00000122194	ENST00000308192	T	0.67523	-0.27	5.18	5.18	0.71444	Kringle (5);Kringle-like fold (1);	0.000000	0.39020	U	0.001490	T	0.80752	0.4683	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.82748	-0.0304	10	0.52906	T	0.07	.	17.4468	0.87580	0.0:0.0:1.0:0.0	.	419	P00747	PLMN_HUMAN	T	419	ENSP00000308938:A419T	ENSP00000308938:A419T	A	+	1	0	PLG	161063588	1.000000	0.71417	0.998000	0.56505	0.484000	0.33280	7.875000	0.87205	2.413000	0.81919	0.467000	0.42956	GCT	PLG	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Pept_S1A_plasmin,pfscan_Kringle		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	G	NM_000301	Missense_Mutation	161143598	1	no_errors	ENST00000308192	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161143598	G	A	161143598	5	1	86	1	0	0	0	0	0	0	1	0	12110	1333	46	4	1297	4	PLG	6	161143598	Splice_Site	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	108799066	161143598	9971469	24	12837										
INTS1	26173	genome.wustl.edu	37	chr7	1510583	1510583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tgaacgtgggcaggaaagcgGctgcaatgctgaaagaccca	14	9	0	3			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:1510583G>A	ENST00000404767.3	-	47	6441	c.6356C>T	c.(6355-6357)gCc>gTc	p.A2119V	INTS1_ENST00000389470.4_Missense_Mutation_p.A2323V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	2119					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGAAAGCGGCTGCAATGCT	0.637																																																	0													42	48	46					7																	1510583		2064	4171	6235	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.6356C>T	7.37:g.1510583G>A	ENSP00000385722:p.Ala2119Val		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A2323V	ENST00000404767.3	37	c.6968	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472793	0.63737	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66638	-0.22;-0.22	5.59	5.59	0.84812	.	0.049222	0.85682	D	0.000000	T	0.67942	0.2947	M	0.62723	1.935	0.51482	D	0.999925	B	0.33022	0.394	B	0.33454	0.164	T	0.69566	-0.5111	10	0.62326	D	0.03	.	19.5768	0.95447	0.0:0.0:1.0:0.0	.	2119	Q8N201	INT1_HUMAN	V	2119;2323	ENSP00000385722:A2119V;ENSP00000374121:A2323V	ENSP00000374121:A2323V	A	-	2	0	INTS1	1477109	1.000000	0.71417	0.975000	0.42487	0.064000	0.16182	7.833000	0.86765	2.635000	0.89317	0.462000	0.41574	GCC	INTS1	-	superfamily_ARM-type_fold		0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1510583	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.998	A	A	1510583	G	A	1510583	3	1	86	1	0	0	0	0	1	0	0	0	7795	1203	42	4	224	4	INTS1	7	1510583	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		1510583	157628080	25	12838										
PKD1L1	168507	genome.wustl.edu	37	chr7	47879139	47879139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccagcactgggcagggaagaAccagccctgtcccgtgtgca	13	14	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:47879139A>G	ENST00000289672.2	-	36	5724	c.5674T>C	c.(5674-5676)Ttc>Ctc	p.F1892L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1892	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAGGGAAGAACCAGCCCTGT	0.652																																																	0													44	32	36					7																	47879139		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5674T>C	7.37:g.47879139A>G	ENSP00000289672:p.Phe1892Leu		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.F1892L	ENST00000289672.2	37	c.5674	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	A	8.228	0.803944	0.16467	.	.	ENSG00000158683	ENST00000289672	T	0.63096	-0.02	5.09	1.08	0.20341	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.647706	0.14155	N	0.337799	T	0.37544	0.1007	N	0.17278	0.47	0.30843	N	0.735489	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	10	0.18710	T	0.47	-27.2768	4.4579	0.11652	0.6271:0.1667:0.2061:0.0	.	1892	Q8TDX9	PK1L1_HUMAN	L	1892	ENSP00000289672:F1892L	ENSP00000289672:F1892L	F	-	1	0	PKD1L1	47845664	0.997000	0.39634	1.000000	0.80357	0.164000	0.22412	0.226000	0.17776	0.347000	0.23924	0.533000	0.62120	TTC	PKD1L1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.652	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	A	NM_138295		47879139	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47879139	A	G	47879139	3	3	86	1	0	0	0	0	1	0	0	0	11988	43	2	5	2963	5	PKD1L1	7	47879139	Missense_Mutation	SNP	A	TCGA-EA-A5FO-01A-21D-A28B-09	46368556	47879139	111259524	26	12839										
DGKI	9162	genome.wustl.edu	37	chr7	137294323	137294323	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tttcttttaaagcttgttctCttcttcttccgatttgaagc	5	9	4	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr7:137294323C>T	ENST00000288490.5	-	9	1026	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	DGKI_ENST00000446122.1_Silent_p.K342K|DGKI_ENST00000424189.2_Silent_p.K342K|DGKI_ENST00000453654.2_Silent_p.K42K	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	342					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGCTTGTTCTCTTCTTCTTCC	0.443																																																	0													154	129	137					7																	137294323		2203	4300	6503	SO:0001819	synonymous_variant	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1026G>A	7.37:g.137294323C>T			A4D1Q9|Q9NZ49	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K342	ENST00000288490.5	37	c.1026	CCDS5845.1	7																																																																																			DGKI	-	NULL		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	C	NM_004717		137294323	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	silent	SNP	1.000	T	T	137294323	C	T	137294323	2	4	86	1	0	0	0	0	0	0	0	1	4481	912	32	1		1	DGKI	7	137294323	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	89415184	137294323	21844340	27	12840										
RP1L1	94137	genome.wustl.edu	37	chr8	10465315	10465315	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ctggggcctctacaccttctGattctggctgggcctcccct	10	16	3	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:10465315G>A	ENST00000382483.3	-	4	6516	c.6293C>T	c.(6292-6294)tCa>tTa	p.S2098L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2178	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TACACCTTCTGATTCTGGCTG	0.622																																																	0													151	166	161					8																	10465315		1944	4126	6070	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6293C>T	8.37:g.10465315G>A	ENSP00000371923:p.Ser2098Leu		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S2098L	ENST00000382483.3	37	c.6293	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	-	7.473	0.647106	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.08193	3.12	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.44298	-0.9337	9	0.25751	T	0.34	.	4.1428	0.10201	0.0:0.312:0.2795:0.4086	.	2098	A6NKC6	.	L	2098	ENSP00000371923:S2098L	ENSP00000371923:S2098L	S	-	2	0	RP1L1	10502725	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	0.923000	0.28757	-0.579000	0.05952	0.484000	0.47621	TCA	RP1L1	-	NULL		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	G			10465315	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.000	A	A	10465315	G	A	10465315	3	1	86	1	0	0	0	0	1	0	0	0	13563	1294	45	1	913	1	RP1L1	8	10465315	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		10465315	135898707	28	12841										
RIMS2	9699	genome.wustl.edu	37	chr8	104513213	104513213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cctgacctcagccacctcacGgaggaggagaggaaaatcat	11	12	3	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:104513213G>A	ENST00000406091.3	+	1	99	c.99G>A	c.(97-99)acG>acA	p.T33T	RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	33	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCACCTCACGGAGGAGGAGA	0.627										HNSCC(12;0.0054)																																							0													37	42	40					8																	104513213		1929	4121	6050	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.99G>A	8.37:g.104513213G>A			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.T33	ENST00000406091.3	37	c.99	CCDS55269.1	8																																																																																			RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.627	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		G	NM_001100117		104513213	1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	A	A	104513213	G	A	104513213	2	1	86	1	0	0	0	0	0	0	0	1	13398	1103	39	2		2	RIMS2	8	104513213	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	94047898	104513213	41850809	29	12842										
CSMD3	114788	genome.wustl.edu	37	chr8	113259313	113259313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	caggtgcgtgttgtagacccTtggagaaggtgtcctttttt	13	7	0	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr8:113259313T>A	ENST00000297405.5	-	64	10402	c.10158A>T	c.(10156-10158)caA>caT	p.Q3386H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3346H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3217H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3316H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3386	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGTAGACCCTTGGAGAAGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													136	120	125					8																	113259313		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10158A>T	8.37:g.113259313T>A	ENSP00000297405:p.Gln3386His		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q3386H	ENST00000297405.5	37	c.10158	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030918	0.35797	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.79	0.955	0.19602	Complement control module (2);Sushi/SCR/CCP (3);	0.272209	0.31092	N	0.008268	T	0.47395	0.1443	L	0.44542	1.39	0.31399	N	0.676952	B;B;B	0.14012	0.0;0.001;0.009	B;B;B	0.23419	0.005;0.006;0.046	T	0.40384	-0.9566	10	0.42905	T	0.14	.	3.8807	0.09077	0.2283:0.2692:0.0:0.5025	.	3217;3386;3346	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3346;3386;2656;3217;3316	ENSP00000345799:Q3346H;ENSP00000297405:Q3386H;ENSP00000341558:Q2656H;ENSP00000412263:Q3217H;ENSP00000343124:Q3316H	ENSP00000297405:Q3386H	Q	-	3	2	CSMD3	113328489	0.999000	0.42202	0.997000	0.53966	0.709000	0.40893	0.574000	0.23714	0.073000	0.16731	0.377000	0.23210	CAA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	T	NM_052900		113259313	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113259313	T	A	113259313	3	1	86	1	0	0	0	0	1	0	0	0	3951	1606	56	5	997	5	CSMD3	8	113259313	Missense_Mutation	SNP	T	TCGA-EA-A5FO-01A-21D-A28B-09	8746100	113259313	33104709	30	12843										
ANAPC2	29882	genome.wustl.edu	37	chr9	140082506	140082506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tcagaacctccaccgccgccCggagctcctcttcctttggc	8	19	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr9:140082506C>T	ENST00000323927.2	-	2	171	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CACCGCCGCCCGGAGCTCCTC	0.637																																																	0													34	41	39					9																	140082506		2202	4300	6502	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.167G>A	9.37:g.140082506C>T	ENSP00000314004:p.Arg56Gln		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.R56Q	ENST00000323927.2	37	c.167	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188336	0.38609	.	.	ENSG00000176248	ENST00000323927	T	0.71222	-0.55	4.86	3.74	0.42951	.	0.587551	0.18708	N	0.133399	T	0.50531	0.1621	N	0.19112	0.55	0.30914	N	0.728729	B	0.12630	0.006	B	0.04013	0.001	T	0.46345	-0.9198	10	0.25106	T	0.35	-27.7304	7.5055	0.27542	0.0:0.7914:0.0:0.2086	.	56	Q9UJX6	ANC2_HUMAN	Q	56	ENSP00000314004:R56Q	ENSP00000314004:R56Q	R	-	2	0	ANAPC2	139202327	0.804000	0.28969	1.000000	0.80357	0.985000	0.73830	0.936000	0.28938	2.248000	0.74166	0.491000	0.48974	CGG	ANAPC2	-	NULL		0.637	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140082506	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	0.979	T	T	140082506	C	T	140082506	3	4	86	1	0	0	0	0	1	0	0	0	603	652	23	2	2349	2	ANAPC2	9	140082506	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		140082506	1130925	31	12844										
PTEN	5728	genome.wustl.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cctccaattcaggacccacaCgacgggaagacaagttcatg	9	13	2	1	rs121909219		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	GRCh37	CM971277	PTEN	M	rs121909219						155	133	141					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R233*	ENST00000371953.3	37	c.697	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89717672	1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	0.984	T	T	89717672	C	T	89717672	4	4	86	1	0	0	0	0	0	1	0	0	12765	528	19	2	723	2	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		89717672	45817075	32	12845										
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118231381	118231381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ttaggaaaactggggagtttGccattgtcaggtaggcagag	15	5	1	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:118231381G>T	ENST00000369230.3	+	10	1308	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	388	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGGGGAGTTTGCCATTGTCAG	0.488																																																	0													117	122	120					10																	118231381		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1162G>T	10.37:g.118231381G>T	ENSP00000358232:p.Ala388Ser			Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.A388S	ENST00000369230.3	37	c.1162	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396193	0.25205	.	.	ENSG00000203837	ENST00000369230	T	0.70749	-0.51	4.18	1.1	0.20463	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	2.332490	0.02559	N	0.096558	T	0.58047	0.2095	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.19666	0.026	T	0.43327	-0.9398	10	0.44086	T	0.13	.	5.3634	0.16101	0.1879:0.169:0.6431:0.0	.	388	Q17RR3	LIPR3_HUMAN	S	388	ENSP00000358232:A388S	ENSP00000358232:A388S	A	+	1	0	PNLIPRP3	118221371	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.121000	0.10643	0.106000	0.17784	0.591000	0.81541	GCC	PNLIPRP3	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.488	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118231381	1	no_errors	ENST00000369230	ensembl	human	known	70_37	missense	SNP	0.000	T	T	118231381	G	T	118231381	3	4	86	1	0	0	0	0	1	0	0	0	12176	1319	46	4	1200	4	PNLIPRP3	10	118231381	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	28513709	118231381	17303366	33	12846										
FGFR2	2263	genome.wustl.edu	37	chr10	123274794	123274794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	agtaaatggctatctccaggTagtctggggaagctgtaatc	12	7	2	0	rs121913478		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr10:123274794T>C	ENST00000358487.5	-	9	1396	c.1124A>G	c.(1123-1125)tAc>tGc	p.Y375C	FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000369061.4_Missense_Mutation_p.Y263C|FGFR2_ENST00000369056.1_Missense_Mutation_p.Y376C|FGFR2_ENST00000351936.6_Missense_Mutation_p.Y375C|FGFR2_ENST00000357555.5_Missense_Mutation_p.Y286C|FGFR2_ENST00000360144.3_Missense_Mutation_p.Y287C|FGFR2_ENST00000457416.2_Missense_Mutation_p.Y376C|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.Y375C|FGFR2_ENST00000478859.1_Missense_Mutation_p.Y147C|FGFR2_ENST00000369059.1_Missense_Mutation_p.Y261C|FGFR2_ENST00000356226.4_Missense_Mutation_p.Y260C	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	375			Y -> C (in PS and BSTVS). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:12000365, ECO:0000269|PubMed:8696350}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.Y375C(5)|p.Y376C(1)|p.Y286C(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TATCTCCAGGTAGTCTGGGGA	0.493		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	7	Substitution - Missense(7)	endometrium(7)	GRCh37	CM960653	FGFR2	M	rs121913478						108	114	112					10																	123274794		2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1124A>G	10.37:g.123274794T>C	ENSP00000351276:p.Tyr375Cys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y376C	ENST00000358487.5	37	c.1127	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589090	0.86851	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.84326	2.69	0.80722	A	1	D;D;D;D;D;P;D	0.76494	0.993;0.996;0.999;0.998;0.998;0.933;0.999	P;D;D;D;D;P;D	0.70016	0.662;0.927;0.917;0.944;0.927;0.818;0.967	D	0.95149	0.8271	9	0.72032	D	0.01	.	16.2041	0.82108	0.0:0.0:0.0:1.0	.	394;376;286;260;375;287;376	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17	.;.;.;.;FGFR2_HUMAN;.;.	C	286;378;263;375;260;261;375;376;375;287;376;376;286	ENSP00000350166:Y286C;ENSP00000358057:Y263C;ENSP00000351276:Y375C;ENSP00000348559:Y260C;ENSP00000358055:Y261C;ENSP00000263451:Y375C;ENSP00000410294:Y376C;ENSP00000309878:Y375C;ENSP00000353262:Y287C;ENSP00000358052:Y376C;ENSP00000358054:Y376C;ENSP00000337665:Y286C	ENSP00000337665:Y286C	Y	-	2	0	FGFR2	123264784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.964000	0.87933	2.219000	0.72066	0.533000	0.62120	TAC	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt		0.493	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	T	NM_022976, NM_000141		123274794	-1	no_errors	ENST00000457416	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123274794	T	C	123274794	3	2	86	1	0	0	0	0	1	0	0	0	5884	1638	57	5	1485	5	FGFR2	10	123274794	Missense_Mutation	SNP	T	TCGA-EA-A5FO-01A-21D-A28B-09	5043413	123274794	12259953	34	12847										
IPO7	10527	genome.wustl.edu	37	chr11	9457893	9457893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	aggtcatcattctgcagtgcAaagggcgtggcattgaccag	13	9	3	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:9457893A>G	ENST00000379719.3	+	20	2390	c.2248A>G	c.(2248-2250)Aaa>Gaa	p.K750E	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	750					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGCAGTGCAAAGGGCGTGG	0.403																																																	0													121	99	106					11																	9457893		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2248A>G	11.37:g.9457893A>G	ENSP00000369042:p.Lys750Glu		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K750E	ENST00000379719.3	37	c.2248	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	A	32	5.111957	0.94339	.	.	ENSG00000205339	ENST00000379719	T	0.67345	-0.26	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.86953	2.85	0.80722	D	1	D	0.57571	0.98	P	0.56751	0.805	T	0.80529	-0.1342	10	0.28530	T	0.3	.	14.8042	0.69938	1.0:0.0:0.0:0.0	.	750	O95373	IPO7_HUMAN	E	750	ENSP00000369042:K750E	ENSP00000369042:K750E	K	+	1	0	IPO7	9414469	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	1.920000	0.55613	0.455000	0.32223	AAA	IPO7	-	superfamily_ARM-type_fold		0.403	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	A	NM_006391		9457893	1	no_errors	ENST00000379719	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9457893	A	G	9457893	3	3	86	1	0	0	0	0	1	0	0	0	7817	131	5	5	2326	5	IPO7	11	9457893	Missense_Mutation	SNP	A	TCGA-EA-A5FO-01A-21D-A28B-09		9457893	125548623	35	12848										
KCNJ11	3767	genome.wustl.edu	37	chr11	17408655	17408655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ttgccaaacttggagtagtcCacagagtaacgtccgtcctc	9	12	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:17408655C>T	ENST00000339994.4	-	1	1551	c.984G>A	c.(982-984)gtG>gtA	p.V328V	KCNJ11_ENST00000528731.1_Silent_p.V241V|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	328					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TGGAGTAGTCCACAGAGTAAC	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													178	154	162					11																	17408655		2200	4293	6493	SO:0001819	synonymous_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.984G>A	11.37:g.17408655C>T		717	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2	p.V328	ENST00000339994.4	37	c.984	CCDS31436.1	11																																																																																			KCNJ11	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	HGNC	protein_coding	OTTHUMT00000387037.1	C	NM_000525		17408655	-1	no_errors	ENST00000339994	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17408655	C	T	17408655	2	4	86	1	0	0	0	0	0	0	0	1	8065	581	21	4		4	KCNJ11	11	17408655	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	7950762	17408655	117597861	36	12849										
NR1H3	10062	genome.wustl.edu	37	chr11	47283254	47283254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gccgggaggaccagattgccCtgctgaagacctctgcgatc	13	13	1	3			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:47283254C>T	ENST00000467728.1	+	5	2103	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	NR1H3_ENST00000395397.3_Silent_p.L244L|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000441012.2_Silent_p.L289L|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Silent_p.L244L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	289	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCAGATTGCCCTGCTGAAGAC	0.577																																																	0													58	56	56					11																	47283254		2201	4298	6499	SO:0001819	synonymous_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.865C>T	11.37:g.47283254C>T			A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt	p.L289	ENST00000467728.1	37	c.865	CCDS7929.1	11																																																																																			NR1H3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt		0.577	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	C			47283254	1	no_errors	ENST00000441012	ensembl	human	known	70_37	silent	SNP	0.997	T	T	47283254	C	T	47283254	2	4	86	1	0	0	0	0	0	0	0	1	10642	680	24	4		4	NR1H3	11	47283254	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	29874599	47283254	87723262	37	12850										
OR4A5	81318	genome.wustl.edu	37	chr11	51411741	51411741	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gtaagttttaagggagcttaGgatgactccataggagatta	12	4	0	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:51411741G>C	ENST00000319760.6	-	1	707	c.655C>G	c.(655-657)Cta>Gta	p.L219V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	219			L -> Q (in dbSNP:rs35083184).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGGAGCTTAGGATGACTCCA	0.438																																																	0													60	60	60					11																	51411741		2201	4295	6496	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.655C>G	11.37:g.51411741G>C	ENSP00000367664:p.Leu219Val		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L219V	ENST00000319760.6	37	c.655	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	5.740	0.321008	0.10845	.	.	ENSG00000221840	ENST00000319760	T	0.00188	8.59	1.93	-0.219	0.13135	GPCR, rhodopsin-like superfamily (1);	0.204155	0.24258	N	0.040117	T	0.00300	0.0009	M	0.62088	1.915	0.09310	N	1	P	0.51449	0.945	P	0.61658	0.892	T	0.50964	-0.8765	10	0.87932	D	0	.	2.8902	0.05674	0.1621:0.0:0.3634:0.4745	.	219	Q8NH83	OR4A5_HUMAN	V	219	ENSP00000367664:L219V	ENSP00000367664:L219V	L	-	1	2	OR4A5	51268317	0.000000	0.05858	0.276000	0.24689	0.025000	0.11179	-0.966000	0.03825	-0.043000	0.13513	0.162000	0.16502	CTA	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	G	NM_001005272		51411741	-1	no_errors	ENST00000319760	ensembl	human	known	70_37	missense	SNP	0.067	C	C	51411741	G	C	51411741	3	2	86	1	0	0	0	0	1	0	0	0	11067	991	35	4	296	4	OR4A5	11	51411741	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	4128487	51411741	83594775	38	12851										
OR4A5	81318	genome.wustl.edu	37	chr11	51412303	51412303	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	accactgtcaccaagtatgtGagtaaaaacatgacaaataa	6	8	1	2	rs138059000		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:51412303G>C	ENST00000319760.6	-	1	145	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCAAGTATGTGAGTAAAAACA	0.428																																																	0													53	50	51					11																	51412303		2201	4296	6497	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.93C>G	11.37:g.51412303G>C			Q6IF84	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L31	ENST00000319760.6	37	c.93	CCDS31497.1	11																																																																																			OR4A5	-	prints_GPCR_Rhodpsn		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	G	NM_001005272		51412303	-1	no_errors	ENST00000319760	ensembl	human	known	70_37	silent	SNP	0.007	C	C	51412303	G	C	51412303	2	2	86	1	0	0	0	0	0	0	0	1	11067	1277	45	1		1	OR4A5	11	51412303	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	562	51412303	83594213	39	12852										
OR9G4	283189	genome.wustl.edu	37	chr11	56510605	56510605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tgacataggaaatcaggataGcaagaatgctggagagtact	12	5	1	3			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:56510605G>T	ENST00000302957.3	-	1	682	c.683C>A	c.(682-684)gCt>gAt	p.A228D		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AATCAGGATAGCAAGAATGCT	0.488																																																	0													112	101	105					11																	56510605		2201	4296	6497	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.683C>A	11.37:g.56510605G>T	ENSP00000307515:p.Ala228Asp		Q6IF62|Q96RA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A228D	ENST00000302957.3	37	c.683	CCDS31537.1	11	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508455	0.44660	.	.	ENSG00000172457	ENST00000302957	T	0.38401	1.14	5.07	0.695	0.18070	GPCR, rhodopsin-like superfamily (1);	0.190564	0.25593	N	0.029606	T	0.36880	0.0983	L	0.51422	1.61	0.18873	N	0.999982	D	0.53885	0.963	P	0.51101	0.659	T	0.18493	-1.0335	10	0.72032	D	0.01	-5.9654	6.8765	0.24149	0.5936:0.0:0.4064:0.0	.	228	Q8NGQ1	OR9G4_HUMAN	D	228	ENSP00000307515:A228D	ENSP00000307515:A228D	A	-	2	0	OR9G4	56267181	0.000000	0.05858	0.892000	0.35008	0.535000	0.34838	0.423000	0.21313	0.274000	0.22072	0.643000	0.83706	GCT	OR9G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G4	HGNC	protein_coding	OTTHUMT00000391945.1	G	NM_001005284		56510605	-1	no_errors	ENST00000302957	ensembl	human	known	70_37	missense	SNP	0.162	T	T	56510605	G	T	56510605	3	4	86	1	0	0	0	0	1	0	0	0	11275	971	34	4	303	4	OR9G4	11	56510605	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	5098302	56510605	78495911	40	12853										
BSCL2	26580	genome.wustl.edu	37	chr11	62462159	62462159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ctcaagctctaaggtaacacGatacggctgtccatacatca	7	12	3	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:62462159G>A	ENST00000403550.1	-	4	742	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	BSCL2_ENST00000421906.1_Missense_Mutation_p.R107C|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Missense_Mutation_p.R171C|BSCL2_ENST00000407022.3_Missense_Mutation_p.R107C|BSCL2_ENST00000360796.5_Missense_Mutation_p.R171C|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.R171C|BSCL2_ENST00000278893.7_Missense_Mutation_p.R107C			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	107					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGTAACACGATACGGCTGT	0.453											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126	98	108					11																	62462159		2202	4299	6501	SO:0001583	missense	26580				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.319C>T	11.37:g.62462159G>A	ENSP00000385561:p.Arg107Cys	1061	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	pfam_Adipose-reg_protein_Seipin	p.R171C	ENST00000403550.1	37	c.511	CCDS8031.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.368847|3.368847	0.61624|0.61624	.|.	.|.	ENSG00000168000|ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862|ENST00000525000	D;D;D;D;D;D;D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41|.	5.42|5.42	4.51|4.51	0.55191|0.55191	.|.	0.158657|.	0.38605|.	U|.	0.001627|.	T|T	0.63236|0.63236	0.2494|0.2494	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0|.	D;D;P;D|.	0.68621|.	0.931;0.939;0.899;0.959|.	T|T	0.61436|0.61436	-0.7063|-0.7063	10|5	0.52906|.	T|.	0.07|.	-6.9672|-6.9672	11.8577|11.8577	0.52449|0.52449	0.0857:0.0:0.9143:0.0|0.0857:0.0:0.9143:0.0	.|.	107;107;171;107|.	Q96G97-3;Q53EN3;G3XAE4;Q96G97|.	.;.;.;BSCL2_HUMAN|.	C|L	171;171;107;171;107;107;107;107;38;171|48	ENSP00000385332:R171C;ENSP00000414002:R171C;ENSP00000278893:R107C;ENSP00000354032:R171C;ENSP00000385561:R107C;ENSP00000384080:R107C;ENSP00000413209:R107C;ENSP00000413340:R107C;ENSP00000436026:R38C;ENSP00000433888:R171C|.	ENSP00000278893:R107C|.	R|S	-|-	1|2	0|0	BSCL2|BSCL2	62218735|62218735	1.000000|1.000000	0.71417|0.71417	0.398000|0.398000	0.26321|0.26321	0.936000|0.936000	0.57629|0.57629	2.601000|2.601000	0.46249|0.46249	1.289000|1.289000	0.44618|0.44618	0.563000|0.563000	0.77884|0.77884	CGT|TCG	BSCL2	-	pfam_Adipose-reg_protein_Seipin		0.453	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	BSCL2	HGNC	protein_coding	OTTHUMT00000319185.1	G	NM_032667		62462159	-1	no_errors	ENST00000360796	ensembl	human	known	70_37	missense	SNP	0.964	A	A	62462159	G	A	62462159	3	1	86	1	0	0	0	0	1	0	0	0	1530	1058	37	1	909	1	BSCL2	11	62462159	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	5951554	62462159	72544357	41	12854										
TRPT1	83707	genome.wustl.edu	37	chr11	63992435	63992435	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	aggagggtgcccaggggcacGaagccatctgtgggcaggca	18	10	1	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:63992435G>A	ENST00000317459.6	-	4	333	c.165C>T	c.(163-165)ttC>ttT	p.F55F	TRPT1_ENST00000540472.1_5'UTR|TRPT1_ENST00000541278.1_Silent_p.F55F|TRPT1_ENST00000546133.1_5'Flank|NUDT22_ENST00000441250.2_5'Flank|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000394546.2_Silent_p.F55F|TRPT1_ENST00000546089.1_Silent_p.F6F|TRPT1_ENST00000394547.3_Silent_p.F6F			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	55					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CCAGGGGCACGAAGCCATCTG	0.622																																																	0													10	9	9					11																	63992435		2168	4237	6405	SO:0001819	synonymous_variant	83707				CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"tRNA splicing 2' phosphotransferase 1"	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.165C>T	11.37:g.63992435G>A			A8MU17|A8MYC9|F5H2B2|Q9BSB9	Silent	SNP	pfam_Ptrans_KptA/Tpt1	p.F55	ENST00000317459.6	37	c.165	CCDS31595.1	11																																																																																			TRPT1	-	pfam_Ptrans_KptA/Tpt1		0.622	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPT1	HGNC	protein_coding	OTTHUMT00000396579.1	G	NM_031472		63992435	-1	no_errors	ENST00000394546	ensembl	human	known	70_37	silent	SNP	0.996	A	A	63992435	G	A	63992435	2	1	86	1	0	0	0	0	0	0	0	1	16625	1049	37	1		1	TRPT1	11	63992435	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	1530276	63992435	71014081	42	12855										
SIK2	23235	genome.wustl.edu	37	chr11	111487074	111487074	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gaccaccctcacataatcaaActttatcaggtatgactcag	5	12	4	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr11:111487074A>T	ENST00000304987.3	+	2	416	c.243A>T	c.(241-243)aaA>aaT	p.K81N		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACATAATCAAACTTTATCAGG	0.328																																																	0													113	106	109					11																	111487074		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.243A>T	11.37:g.111487074A>T	ENSP00000305976:p.Lys81Asn		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K81N	ENST00000304987.3	37	c.243	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865564	0.71949	.	.	ENSG00000170145	ENST00000304987	T	0.26223	1.75	5.31	1.81	0.25067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045484	0.85682	D	0.000000	T	0.38904	0.1058	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11131	-1.0600	10	0.87932	D	0	.	7.0618	0.25129	0.5726:0.0:0.4274:0.0	.	81	Q9H0K1	SIK2_HUMAN	N	81	ENSP00000305976:K81N	ENSP00000305976:K81N	K	+	3	2	SIK2	110992284	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.824000	0.27379	0.352000	0.24053	0.459000	0.35465	AAA	SIK2	-	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom		0.328	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	A	NM_015191		111487074	1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111487074	A	T	111487074	3	4	86	1	0	0	0	0	1	0	0	0	14348	40	2	5	249	5	SIK2	11	111487074	Missense_Mutation	SNP	A	TCGA-EA-A5FO-01A-21D-A28B-09	47494639	111487074	23519442	43	12856										
ADCY6	112	genome.wustl.edu	37	chr12	49167273	49167273	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	agccatggacgccaagcagtAggtcatagttgtcaaagatg	12	8	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:49167273A>T	ENST00000307885.4	-	15	3294	c.2600T>A	c.(2599-2601)cTa>cAa	p.L867Q	ADCY6_ENST00000552090.1_5'Flank|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Missense_Mutation_p.L814Q|ADCY6_ENST00000550422.1_Missense_Mutation_p.L814Q	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	867					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAAGCAGTAGGTCATAGTT	0.527																																																	0													79	71	73					12																	49167273		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2600T>A	12.37:g.49167273A>T	ENSP00000311405:p.Leu867Gln		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L867Q	ENST00000307885.4	37	c.2600	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410868	0.62399	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;T	0.87966	-2.32;-2.32;-1.36	5.49	5.49	0.81192	.	0.091237	0.45606	D	0.000348	D	0.85159	0.5633	L	0.60067	1.865	0.80722	D	1	P;B;B	0.51933	0.949;0.268;0.175	B;B;B	0.43155	0.41;0.111;0.077	D	0.83931	0.0306	10	0.26408	T	0.33	.	14.888	0.70584	1.0:0.0:0.0:0.0	.	98;814;867	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	Q	814;814;867	ENSP00000350536:L814Q;ENSP00000446730:L814Q;ENSP00000311405:L867Q	ENSP00000311405:L867Q	L	-	2	0	ADCY6	47453540	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.265000	0.95647	2.234000	0.73211	0.533000	0.62120	CTA	ADCY6	-	NULL		0.527	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	A	NM_020983		49167273	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49167273	A	T	49167273	3	4	86	1	0	0	0	0	1	0	0	0	298	420	15	5	934	5	ADCY6	12	49167273	Missense_Mutation	SNP	A	TCGA-EA-A5FO-01A-21D-A28B-09		49167273	84684622	44	12857										
SP1	6667	genome.wustl.edu	37	chr12	53803312	53803312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ggaaacgcttcacacgttcgGatgagctacagaggcacaaa	11	10	1	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:53803312G>A	ENST00000327443.4	+	5	2109	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	SP1_ENST00000426431.2_Missense_Mutation_p.D664N	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	671	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CACACGTTCGGATGAGCTACA	0.478																																																	0													96	89	91					12																	53803312		2203	4300	6503	SO:0001583	missense	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2011G>A	12.37:g.53803312G>A	ENSP00000329357:p.Asp671Asn		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D671N	ENST00000327443.4	37	c.2011	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.861513	0.97036	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000027	T	0.41003	0.1140	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.26258	-1.0108	10	0.87932	D	0	.	17.8372	0.88701	0.0:0.0:1.0:0.0	.	671	P08047	SP1_HUMAN	N	671;664	ENSP00000329357:D671N;ENSP00000404263:D664N	ENSP00000329357:D671N	D	+	1	0	SP1	52089579	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	9.535000	0.98064	2.827000	0.97445	0.650000	0.86243	GAT	SP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	G			53803312	1	no_errors	ENST00000327443	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53803312	G	A	53803312	3	1	86	1	0	0	0	0	1	0	0	0	14989	1174	41	1	2029	1	SP1	12	53803312	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	4636039	53803312	80048583	45	12858										
HOXC13	3229	genome.wustl.edu	37	chr12	54333151	54333151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccacccgggcgataaataccCggagccgtcgggcgccctgc	13	17	0	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:54333151C>T	ENST00000243056.3	+	1	617	c.461C>T	c.(460-462)cCg>cTg	p.P154L	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	154					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GATAAATACCCGGAGCCGTCG	0.667			T	NUP98	AML																																			Dom	yes		12	12q13.3	3229	homeo box C13		L	0													14	16	15					12																	54333151		2195	4290	6485	SO:0001583	missense	3229				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.461C>T	12.37:g.54333151C>T	ENSP00000243056:p.Pro154Leu		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P154L	ENST00000243056.3	37	c.461	CCDS8865.1	12	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410895	0.42817	.	.	ENSG00000123364	ENST00000243056	T	0.37752	1.18	2.69	1.75	0.24633	.	0.144833	0.46758	D	0.000264	T	0.24275	0.0588	L	0.27053	0.805	0.50632	D	0.99988	B	0.14805	0.011	B	0.17722	0.019	T	0.07635	-1.0762	10	0.49607	T	0.09	.	10.189	0.43015	0.2015:0.7984:0.0:0.0	.	154	P31276	HXC13_HUMAN	L	154	ENSP00000243056:P154L	ENSP00000243056:P154L	P	+	2	0	HOXC13	52619418	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.589000	0.46145	0.677000	0.31305	0.313000	0.20887	CCG	HOXC13	-	pfam_HoxA13_N		0.667	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC13	HGNC	protein_coding	OTTHUMT00000358865.2	C			54333151	1	no_errors	ENST00000243056	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54333151	C	T	54333151	3	4	86	1	0	0	0	0	1	0	0	0	7332	652	23	2	463	2	HOXC13	12	54333151	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	529839	54333151	79518744	46	12859										
ERBB3	2065	genome.wustl.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186	159	168					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A	A	56478854	G	A	56478854	3	1	86	1	0	0	0	0	1	0	0	0	5220	1145	40	2	320	2	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	2145703	56478854	77373041	47	12860										
POLE	5426	genome.wustl.edu	37	chr12	133219510	133219510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gggtggcaggagctcagggcCcaccttctccaggaggaggc	17	12	2	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr12:133219510C>A	ENST00000320574.5	-	36	4667	c.4624G>T	c.(4624-4626)Ggc>Tgc	p.G1542C	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.G1515C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1542					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGCTCAGGGCCCACCTTCTCC	0.622								DNA polymerases (catalytic subunits)																																									0													69	67	67					12																	133219510		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4624G>T	12.37:g.133219510C>A	ENSP00000322570:p.Gly1542Cys		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G1553C	ENST00000320574.5	37	c.4657	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066919	0.55539	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22945	1.93;1.93;1.93	5.82	5.82	0.92795	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.257811	0.45361	D	0.000364	T	0.29850	0.0746	L	0.47190	1.495	0.36333	D	0.858984	B	0.10296	0.003	B	0.18263	0.021	T	0.14924	-1.0455	10	0.62326	D	0.03	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	1542	Q07864	DPOE1_HUMAN	C	1542;1553;1515	ENSP00000322570:G1542C;ENSP00000406383:G1553C;ENSP00000445753:G1515C	ENSP00000322570:G1542C	G	-	1	0	POLE	131729583	0.997000	0.39634	0.805000	0.32314	0.931000	0.56810	3.657000	0.54474	2.756000	0.94617	0.655000	0.94253	GGC	POLE	-	pfam_DNA_pol_e_suA_C		0.622	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	C	NM_006231		133219510	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	0.997	A	A	133219510	C	A	133219510	3	1	86	1	0	0	0	0	1	0	0	0	12220	623	22	4	2292	4	POLE	12	133219510	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	76740656	133219510	632385	48	12861										
MMP14	4323	genome.wustl.edu	37	chr14	23312944	23312944	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gagtcagggttccccaccaaGatgccccctcaacccaggac	9	17	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:23312944G>A	ENST00000311852.6	+	6	1137	c.876G>A	c.(874-876)aaG>aaA	p.K292K	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	292					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TCCCCACCAAGATGCCCCCTC	0.582																																																	0													111	120	117					14																	23312944		2203	4300	6503	SO:0001819	synonymous_variant	4323				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.876G>A	14.37:g.23312944G>A			A8K5L0|Q6GSF3|Q92678	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.K292	ENST00000311852.6	37	c.876	CCDS9577.1	14																																																																																			MMP14	-	pirsf_Pept_M10A_matrix_strom		0.582	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	G	NM_004995		23312944	1	no_errors	ENST00000311852	ensembl	human	known	70_37	silent	SNP	0.997	A	A	23312944	G	A	23312944	2	1	86	1	0	0	0	0	0	0	0	1	9676	933	33	1		1	MMP14	14	23312944	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		23312944	84036596	49	12862										
SLC25A21	89874	genome.wustl.edu	37	chr14	37194846	37194846	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	agggttaactacaatggcttCtgttagtccagatcccaatc	8	10	1	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:37194846C>T	ENST00000331299.5	-	6	882	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	SLC25A21_ENST00000555449.1_Missense_Mutation_p.E123K	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	123					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ACAATGGCTTCTGTTAGTCCA	0.353																																																	0													96	91	93					14																	37194846		2203	4300	6503	SO:0001583	missense	89874			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.367G>A	14.37:g.37194846C>T	ENSP00000329452:p.Glu123Lys		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E123K	ENST00000331299.5	37	c.367	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852133	0.91355	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79352	-1.26;-1.26	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91877	0.5512	10	0.87932	D	0	-17.3156	19.3129	0.94198	0.0:1.0:0.0:0.0	.	123	Q9BQT8	ODC_HUMAN	K	123	ENSP00000451873:E123K;ENSP00000329452:E123K	ENSP00000329452:E123K	E	-	1	0	SLC25A21	36264597	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GAA	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.353	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	C	NM_030631		37194846	-1	no_errors	ENST00000331299	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37194846	C	T	37194846	3	4	86	1	0	0	0	0	1	0	0	0	14514	922	32	1	557	1	SLC25A21	14	37194846	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	13881902	37194846	70154694	50	12863										
CLEC14A	161198	genome.wustl.edu	37	chr14	38723786	38723786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tagagccaagaggggactccGccagcaaggcaccctctgct	12	14	1	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:38723786G>A	ENST00000342213.2	-	1	1788	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	481						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGGGGACTCCGCCAGCAAGGC	0.547																																																	0													71	73	72					14																	38723786		2203	4300	6503	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1442C>T	14.37:g.38723786G>A	ENSP00000353013:p.Ala481Val		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A481V	ENST00000342213.2	37	c.1442	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230424	0.39399	.	.	ENSG00000176435	ENST00000342213	T	0.75589	-0.95	4.86	-0.646	0.11472	.	1.197340	0.06536	N	0.742457	T	0.53481	0.1799	N	0.14661	0.345	0.09310	N	1	B	0.24132	0.098	B	0.12156	0.007	T	0.44236	-0.9341	10	0.59425	D	0.04	0.0971	3.6936	0.08355	0.3781:0.0:0.4563:0.1656	.	481	Q86T13	CLC14_HUMAN	V	481	ENSP00000353013:A481V	ENSP00000353013:A481V	A	-	2	0	CLEC14A	37793537	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-0.004000	0.12878	0.046000	0.15833	0.563000	0.77884	GCG	CLEC14A	-	NULL		0.547	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38723786	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	missense	SNP	0.000	A	A	38723786	G	A	38723786	3	1	86	1	0	0	0	0	1	0	0	0	3504	1087	38	2	34	2	CLEC14A	14	38723786	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	1528940	38723786	68625754	51	12864										
FRMD6	122786	genome.wustl.edu	37	chr14	52171610	52171610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gaacttcaaaaggaataagcActatggaaaatacttcgagc	8	7	1	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:52171610A>G	ENST00000344768.5	+	6	711	c.515A>G	c.(514-516)cAc>cGc	p.H172R	FRMD6_ENST00000356218.4_Missense_Mutation_p.H164R|FRMD6_ENST00000554167.1_Missense_Mutation_p.H95R|FRMD6_ENST00000395718.2_Missense_Mutation_p.H164R			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGGAATAAGCACTATGGAAAA	0.468																																																	0													64	65	65					14																	52171610		2203	4300	6503	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.515A>G	14.37:g.52171610A>G	ENSP00000343899:p.His172Arg		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.H172R	ENST00000344768.5	37	c.515	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079748	0.55753	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167;ENST00000557405	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.54	5.54	0.83059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.043207	0.85682	D	0.000000	T	0.49490	0.1560	M	0.86343	2.81	0.80722	D	1	B;B;B	0.17038	0.01;0.013;0.02	B;B;B	0.25987	0.017;0.03;0.065	T	0.54029	-0.8354	10	0.87932	D	0	.	15.6635	0.77206	1.0:0.0:0.0:0.0	.	95;172;164	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	R	164;164;172;103;95;62	ENSP00000348550:H164R;ENSP00000379068:H164R;ENSP00000343899:H172R;ENSP00000451453:H103R;ENSP00000451977:H95R;ENSP00000450667:H62R	ENSP00000343899:H172R	H	+	2	0	FRMD6	51241360	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.297000	0.96120	2.101000	0.63845	0.491000	0.48974	CAC	FRMD6	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	A	NM_152330		52171610	1	no_errors	ENST00000344768	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52171610	A	G	52171610	3	3	86	1	0	0	0	0	1	0	0	0	6072	159	6	5	509	5	FRMD6	14	52171610	Missense_Mutation	SNP	A	TCGA-EA-A5FO-01A-21D-A28B-09	13447824	52171610	55177930	52	12865										
FOXN3	1112	genome.wustl.edu	37	chr14	89647088	89647088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gggagtgattggcagcggccGcacgccaggaaacagccctc	15	13	0	1	rs142179906		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr14:89647088G>A	ENST00000345097.4	-	6	990	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	FOXN3_ENST00000557258.1_Missense_Mutation_p.R270W|FOXN3_ENST00000261302.5_Missense_Mutation_p.R292W|FOXN3_ENST00000555353.1_Missense_Mutation_p.R270W	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	292					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCAGCGGCCGCACGCCAGGA	0.607																																																	0													26	25	25					14																	89647088		2203	4300	6503	SO:0001583	missense	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.874C>T	14.37:g.89647088G>A	ENSP00000343288:p.Arg292Trp		Q96II7|Q9UIE7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R292W	ENST00000345097.4	37	c.874	CCDS41977.1	14	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935690	0.34189	.	.	ENSG00000053254	ENST00000557572;ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	D;D;D;D	0.95137	-3.62;-3.62;-3.45;-3.45	5.56	4.59	0.56863	.	0.143577	0.46145	D	0.000303	D	0.90403	0.6996	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.20052	0.041;0.009	B;B	0.14578	0.011;0.003	D	0.87781	0.2612	10	0.66056	D	0.02	.	15.4073	0.74890	0.0:0.0:0.8171:0.1829	.	292;270	O00409;O00409-2	FOXN3_HUMAN;.	W	1;292;292;270;270	ENSP00000343288:R292W;ENSP00000261302:R292W;ENSP00000452005:R270W;ENSP00000452227:R270W	ENSP00000261302:R292W	R	-	1	2	FOXN3	88716841	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.457000	0.45005	2.609000	0.88269	0.561000	0.74099	CGG	FOXN3	-	NULL		0.607	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	G	NM_005197		89647088	-1	no_errors	ENST00000261302	ensembl	human	known	70_37	missense	SNP	0.998	A	A	89647088	G	A	89647088	3	1	86	1	0	0	0	0	1	0	0	0	6039	1086	38	2	606	2	FOXN3	14	89647088	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	37475478	89647088	17702452	53	12866										
ZNF770	54989	genome.wustl.edu	37	chr15	35275294	35275294	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ttggcctccagcaatcttctGacctgtttaacattattctg	6	11	3	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:35275294G>A	ENST00000356321.4	-	3	686	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	114					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCAATCTTCTGACCTGTTTAA	0.378																																																	0													104	102	103					15																	35275294		2201	4298	6499	SO:0001819	synonymous_variant	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.342C>T	15.37:g.35275294G>A			Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V114	ENST00000356321.4	37	c.342	CCDS10042.1	15																																																																																			ZNF770	-	NULL		0.378	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	G	NM_014106		35275294	-1	no_errors	ENST00000356321	ensembl	human	known	70_37	silent	SNP	0.885	A	A	35275294	G	A	35275294	2	1	86	1	0	0	0	0	0	0	0	1	18173	1277	45	1		1	ZNF770	15	35275294	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		35275294	67256098	54	12867										
LDHAL6B	92483	genome.wustl.edu	37	chr15	59500058	59500058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccattggcctatctgtggccGatttaacagaaagtattttg	9	8	1	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:59500058G>A	ENST00000307144.4	+	1	1017	c.919G>A	c.(919-921)Gat>Aat	p.D307N	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	307					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.D307N(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						ATCTGTGGCCGATTTAACAGA	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											68	71	70					15																	59500058		2191	4290	6481	SO:0001583	missense	92483			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.919G>A	15.37:g.59500058G>A	ENSP00000302393:p.Asp307Asn		Q6DUY4|Q96LI2	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.D307N	ENST00000307144.4	37	c.919	CCDS10171.1	15	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845406	0.71603	.	.	ENSG00000171989	ENST00000307144	T	0.68331	-0.32	1.47	1.47	0.22746	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000002	T	0.70124	0.3188	M	0.75447	2.3	0.43439	D	0.995619	D	0.56287	0.975	P	0.51945	0.685	T	0.70296	-0.4911	10	0.51188	T	0.08	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	307	Q9BYZ2	LDH6B_HUMAN	N	307	ENSP00000302393:D307N	ENSP00000302393:D307N	D	+	1	0	LDHAL6B	57287350	1.000000	0.71417	0.004000	0.12327	0.639000	0.38242	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GAT	LDHAL6B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.373	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHAL6B	HGNC	protein_coding	OTTHUMT00000256015.1	G	NM_033195		59500058	1	no_errors	ENST00000307144	ensembl	human	known	70_37	missense	SNP	0.998	A	A	59500058	G	A	59500058	3	1	86	1	0	0	0	0	1	0	0	0	8720	1058	37	1	921	1	LDHAL6B	15	59500058	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	24224764	59500058	43031334	55	12868										
C15orf44	81556	genome.wustl.edu	37	chr15	65874292	65874292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tcctcttctgtctgtctcacCttatagaatgtctgtgtttt	6	10	5	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr15:65874292C>T	ENST00000395644.4	-	11	1640	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	VWA9_ENST00000442903.3_Splice_Site_p.K399K|VWA9_ENST00000567744.1_Splice_Site_p.K471K|VWA9_ENST00000431261.2_Splice_Site_p.K356K|VWA9_ENST00000420799.2_Splice_Site_p.K378K|VWA9_ENST00000313182.2_Splice_Site_p.K435K|VWA9_ENST00000569491.1_Splice_Site_p.K385K|VWA9_ENST00000569180.1_5'Flank			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	435																	TCTGTCTCACCTTATAGAATG	0.368																																																	0													165	141	149					15																	65874292		2201	4298	6499	SO:0001630	splice_region_variant	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1305+1G>A	15.37:g.65874292C>T			B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	NULL	p.K471	ENST00000395644.4	37	c.1413		15																																																																																			VWA9	-	NULL		0.368	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	C	NM_030800	Silent	65874292	-1	no_errors	ENST00000567744	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65874292	C	T	65874292	5	4	86	1	0	0	0	0	0	0	1	0	1802	695	24	4	259	4	C15orf44	15	65874292	Splice_Site	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	6374234	65874292	36657100	56	12869										
SLC6A2	6530	genome.wustl.edu	37	chr16	55690662	55690662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	cgagaacaacggggcggacaCgggtccagagcagccccttc	14	14	0	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr16:55690662C>T	ENST00000379906.2	+	1	311	c.56C>T	c.(55-57)aCg>aTg	p.T19M	SLC6A2_ENST00000568943.1_Missense_Mutation_p.T19M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T19M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T19M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T19M|SLC6A2_ENST00000561820.1_Missense_Mutation_p.T19M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	19					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGGGCGGACACGGGTCCAGAG	0.697																																																	0													26	29	28					16																	55690662		2196	4297	6493	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.56C>T	16.37:g.55690662C>T	ENSP00000369237:p.Thr19Met		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.T19M	ENST00000379906.2	37	c.56	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098562	0.07010	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.74209	-0.82;-0.77;-0.77	5.27	1.02	0.19986	.	1.030140	0.07612	N	0.925573	T	0.51770	0.1694	N	0.08118	0	0.09310	N	1	B;B	0.20459	0.045;0.006	B;B	0.08055	0.003;0.003	T	0.40117	-0.9580	10	0.45353	T	0.12	.	5.0781	0.14642	0.2493:0.5358:0.0:0.2149	.	19;19	Q96KH8;P23975	.;SC6A2_HUMAN	M	19	ENSP00000394956:T19M;ENSP00000369237:T19M;ENSP00000219833:T19M	ENSP00000219833:T19M	T	+	2	0	SLC6A2	54248163	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	0.242000	0.18087	0.300000	0.22699	-0.253000	0.11424	ACG	SLC6A2	-	NULL		0.697	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	C			55690662	1	no_errors	ENST00000219833	ensembl	human	known	70_37	missense	SNP	0.155	T	T	55690662	C	T	55690662	3	4	86	1	0	0	0	0	1	0	0	0	14713	536	19	2	58	2	SLC6A2	16	55690662	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		55690662	34664091	57	12870										
CNTNAP4	85445	genome.wustl.edu	37	chr16	76482704	76482704	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	acttccaccctggtcaatctCaccctgggcagcctgctaga	8	16	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr16:76482704C>T	ENST00000476707.1	+	5	931	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CNTNAP4_ENST00000307431.8_Silent_p.L260L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L236L|CNTNAP4_ENST00000377504.4_Silent_p.L260L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	261	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGTCAATCTCACCCTGGGCA	0.453																																																	0													114	92	100					16																	76482704		2198	4300	6498	SO:0001819	synonymous_variant	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.792C>T	16.37:g.76482704C>T			E9PFZ6|Q86YZ7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L260	ENST00000476707.1	37	c.780		16																																																																																			CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.453	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	C	NM_033401		76482704	1	no_errors	ENST00000307431	ensembl	human	known	70_37	silent	SNP	0.993	T	T	76482704	C	T	76482704	2	4	86	1	0	0	0	0	0	0	0	1	3654	813	29	1		1	CNTNAP4	16	76482704	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	20792042	76482704	13872049	58	12871										
TP53	7157	genome.wustl.edu	37	chr17	7574017	7574017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gctctcggaacatctcgaagCgctcacgcccacggatctgc	10	16	4	0	rs121912664		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:7574017C>T	ENST00000269305.4	-	10	1199	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337H|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; 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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	GRCh37	CM012663	TP53	M	rs121912664						57	45	49					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1010G>A	17.37:g.7574017C>T	ENSP00000269305:p.Arg337His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.R337H	ENST00000269305.4	37	c.1010	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565214	0.45694	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95171	-3.63;-3.63	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.73598	2.24	0.40311	D	0.97871	D	0.53462	0.96	P	0.53146	0.719	D	0.94086	0.7348	10	0.62326	D	0.03	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	H	337;337;326	ENSP00000269305:R337H;ENSP00000391478:R337H	ENSP00000269305:R337H	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7574017	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.896	T	T	7574017	C	T	7574017	3	4	86	1	0	0	0	0	1	0	0	0	16412	768	27	2	179	2	TP53	17	7574017	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		7574017	73621193	59	12872										
USP43	124739	genome.wustl.edu	37	chr17	9632171	9632171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccctcgtaaagccagcagggCcccgagaggcagtgcactgg	14	14	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:9632171C>A	ENST00000285199.7	+	15	3332	c.3236C>A	c.(3235-3237)gCc>gAc	p.A1079D	USP43_ENST00000570475.1_Missense_Mutation_p.A1074D|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1079					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCCAGCAGGGCCCCGAGAGGC	0.602																																																	0													44	48	47					17																	9632171		1944	4155	6099	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3236C>A	17.37:g.9632171C>A	ENSP00000285199:p.Ala1079Asp		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A1079D	ENST00000285199.7	37	c.3236	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520509	0.27211	.	.	ENSG00000154914	ENST00000285199	T	0.08896	3.04	5.2	0.969	0.19686	.	2.212350	0.02219	N	0.063838	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B;B;B	0.33477	0.289;0.274;0.289;0.413	B;B;B;B	0.31495	0.045;0.069;0.045;0.131	T	0.26643	-1.0097	10	0.36615	T	0.2	-7.9988	3.5949	0.08002	0.1746:0.5532:0.0:0.2722	.	1074;768;1079;591	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	D	1079	ENSP00000285199:A1079D	ENSP00000285199:A1079D	A	+	2	0	USP43	9572896	0.002000	0.14202	0.540000	0.28089	0.005000	0.04900	0.414000	0.21164	0.422000	0.26005	-0.136000	0.14681	GCC	USP43	-	NULL		0.602	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9632171	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.209	A	A	9632171	C	A	9632171	3	1	86	1	0	0	0	0	1	0	0	0	17105	739	26	4	3294	4	USP43	17	9632171	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	2058154	9632171	71563039	60	12873										
SMCR8	140775	genome.wustl.edu	37	chr17	18219721	18219721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	aaagacttggattacaccagGacagtgctacacacagaaac	8	10	0	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:18219721G>A	ENST00000406438.3	+	1	1098	c.618G>A	c.(616-618)agG>agA	p.R206R	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	206						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTACACCAGGACAGTGCTAC	0.468																																																	0													60	60	60					17																	18219721		2203	4300	6503	SO:0001819	synonymous_variant	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.618G>A	17.37:g.18219721G>A			A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	pfam_Folliculin	p.R206	ENST00000406438.3	37	c.618	CCDS11195.2	17																																																																																			SMCR8	-	NULL		0.468	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	G	NM_144775		18219721	1	no_errors	ENST00000406438	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18219721	G	A	18219721	2	1	86	1	0	0	0	0	0	0	0	1	14822	1165	41	1		1	SMCR8	17	18219721	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	8587550	18219721	62975489	61	12874										
NF1	4763	genome.wustl.edu	37	chr17	29559809	29559809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gcaggaaacgtggcatgtctCggaggctggcatcactgagg	16	9	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:29559809C>T	ENST00000358273.4	+	26	3789	c.3406C>T	c.(3406-3408)Cgg>Tgg	p.R1136W	NF1_ENST00000356175.3_Missense_Mutation_p.R1136W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1136					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R1136W(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCATGTCTCGGAGGCTGGC	0.453			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(2)											119	100	106					17																	29559809		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3406C>T	17.37:g.29559809C>T	ENSP00000351015:p.Arg1136Trp		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R1136W	ENST00000358273.4	37	c.3406	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104493	0.77096	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09911	3.1;3.24;2.93	5.55	4.55	0.56014	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.993	P;P;D;D	0.79108	0.859;0.849;0.992;0.937	T	0.00299	-1.1836	10	0.66056	D	0.02	.	13.5041	0.61474	0.2809:0.7191:0.0:0.0	.	1136;186;1136;1136	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	W	1136;1136;802	ENSP00000351015:R1136W;ENSP00000348498:R1136W;ENSP00000389907:R802W	ENSP00000348498:R1136W	R	+	1	2	NF1	26583935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.707000	0.47143	2.612000	0.88384	0.555000	0.69702	CGG	NF1	-	superfamily_ARM-type_fold		0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29559809	1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29559809	C	T	29559809	3	4	86	1	0	0	0	0	1	0	0	0	10380	875	31	1	3569	1	NF1	17	29559809	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	11340088	29559809	51635401	62	12875										
AARSD1	80755	genome.wustl.edu	37	chr17	41108566	41108566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gctcaatcgcactccgaaatCtccctaactccctgtcagaa	5	16	3	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:41108566C>T	ENST00000427569.2	-	5	436	c.401G>A	c.(400-402)aGa>aAa	p.R134K	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R308K|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R217K|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R247K|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.R308K|AARSD1_ENST00000416949.1_Intron	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	134					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTCCGAAATCTCCCTAACTC	0.458																																																	0													63	62	62					17																	41108566		2203	4300	6503	SO:0001583	missense	100885850			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.401G>A	17.37:g.41108566C>T	ENSP00000400870:p.Arg134Lys		B4DI73	Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.R308K	ENST00000427569.2	37	c.923	CCDS58552.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.17|13.17	2.157528|2.157528	0.38119|0.38119	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|T;T	.|0.44881	.|0.91;0.91	5.36|5.36	3.34|3.34	0.38264|0.38264	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	.|0.225469	.|0.35235	.|N	.|0.003358	T|T	0.25158|0.25158	0.0611|0.0611	N|N	0.17248|0.17248	0.465|0.465	.|.	.|.	.|.	.|B;B;B;B;B	.|0.13145	.|0.007;0.001;0.0;0.0;0.0	.|B;B;B;B;B	.|0.17722	.|0.019;0.004;0.002;0.002;0.001	T|T	0.26052|0.26052	-1.0114|-1.0114	4|9	.|0.18276	.|T	.|0.48	-8.0649|-8.0649	11.5775|11.5775	0.50873|0.50873	0.0:0.8539:0.0:0.1461|0.0:0.8539:0.0:0.1461	.|.	.|247;308;217;265;134	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	N|K	140|247;308;308;134;217	.|ENSP00000386621:R308K;ENSP00000409924:R308K	.|ENSP00000353355:R247K	D|R	-|-	1|2	0|0	AARSD1|AARSD1	38362092|38362092	0.926000|0.926000	0.31397|0.31397	0.976000|0.976000	0.42696|0.42696	0.945000|0.945000	0.59286|0.59286	1.994000|1.994000	0.40757|0.40757	1.222000|1.222000	0.43521|0.43521	0.555000|0.555000	0.69702|0.69702	GAT|AGA	PTGES3L-AARSD1	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core		0.458	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding	OTTHUMT00000467729.1	C	NM_001261434		41108566	-1	no_errors	ENST00000409399	ensembl	human	known	70_37	missense	SNP	0.304	T	T	41108566	C	T	41108566	3	4	86	1	0	0	0	0	1	0	0	0	21	913	32	1	869	1	AARSD1	17	41108566	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	11548757	41108566	40086644	63	12876										
MPP3	4356	genome.wustl.edu	37	chr17	41905135	41905135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tcaccgctcctgtctgctgcGcctcctcgcatgatcctggc	9	18	2	1	rs560477482	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:41905135G>A	ENST00000398389.4	-	8	672	c.507C>T	c.(505-507)ggC>ggT	p.G169G	MPP3_ENST00000398393.1_Silent_p.G194G	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	169	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TGTCTGCTGCGCCTCCTCGCA	0.612													G|||	2	0.000399361	0	0	5008	,	,		15659	0.002		0	False		,,,				2504	0																0													40	50	47					17																	41905135		2150	4247	6397	SO:0001819	synonymous_variant	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.507C>T	17.37:g.41905135G>A			B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G169	ENST00000398389.4	37	c.507	CCDS42344.1	17																																																																																			MPP3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.612	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	G	NM_001932		41905135	-1	no_errors	ENST00000398389	ensembl	human	known	70_37	silent	SNP	0.709	A	A	41905135	G	A	41905135	2	1	86	1	0	0	0	0	0	0	0	1	9758	1074	38	2		2	MPP3	17	41905135	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	796569	41905135	39290075	64	12877										
ATXN7L3	56970	genome.wustl.edu	37	chr17	42274681	42274681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gcgggaggcggcaatgctgcGactgcaattggggcaaacac	16	10	0	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:42274681G>A	ENST00000454077.2	-	3	270	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R91C|ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCAATGCTGCGACTGCAATTG	0.592																																																	0													90	103	99					17																	42274681		2038	4183	6221	SO:0001583	missense	56970			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.271C>T	17.37:g.42274681G>A	ENSP00000397259:p.Arg91Cys			Missense_Mutation	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.R91C	ENST00000454077.2	37	c.271	CCDS45697.1	17	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544120	0.27563	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.65	3.69	0.42338	.	0.154659	0.42682	D	0.000678	T	0.54143	0.1840	M	0.73753	2.245	0.54753	D	0.999987	P;B	0.39376	0.67;0.113	B;B	0.33521	0.165;0.041	T	0.59825	-0.7381	9	0.66056	D	0.02	.	11.5142	0.50511	0.0895:0.0:0.9105:0.0	.	91;91	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	C	91	.	ENSP00000374035:R91C	R	-	1	0	ATXN7L3	39630207	1.000000	0.71417	0.868000	0.34077	0.500000	0.33767	4.536000	0.60636	0.964000	0.38108	0.561000	0.74099	CGC	ATXN7L3	-	pfam_SAGA_su_Sgf11		0.592	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	G			42274681	-1	no_errors	ENST00000454077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42274681	G	A	42274681	3	1	86	1	0	0	0	0	1	0	0	0	1219	1058	37	1	833	1	ATXN7L3	17	42274681	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	369546	42274681	38920529	65	12878										
RNF43	54894	genome.wustl.edu	37	chr17	56435253	56435253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ctggggcagatgctggaggcGtcaactgggccaggggctgg	20	9	1	1	rs146366849	byFrequency	TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr17:56435253G>A	ENST00000584437.1	-	8	3839	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.D501D|RNF43_ENST00000407977.2_Silent_p.D628D|RNF43_ENST00000500597.2_Silent_p.D587D|RNF43_ENST00000583753.1_Silent_p.D587D|RNF43_ENST00000577625.1_Silent_p.D501D|RNF43_ENST00000577716.1_Silent_p.D628D			Q68DV7	RNF43_HUMAN	ring finger protein 43	628	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGGAGGCGTCAACTGGGC	0.632													T|||	3	0.000599042	0.0023	0	5008	,	,		14944	0		0	False		,,,				2504	0																0								T		8,4396		0,8,2194	61	71	67		1884	0.1	0	17	dbSNP_134	67	0,8590		0,0,4295	no	coding-synonymous	RNF43	NM_017763.4		0,8,6489	AA,AG,GG		0.0,0.1817,0.0616		628/784	56435253	8,12986	2202	4295	6497	SO:0001819	synonymous_variant	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1884C>T	17.37:g.56435253G>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D628	ENST00000584437.1	37	c.1884	CCDS11607.1	17																																																																																			RNF43	-	NULL		0.632	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	G	NM_017763		56435253	-1	no_errors	ENST00000407977	ensembl	human	known	70_37	silent	SNP	0.003	A	A	56435253	G	A	56435253	2	1	86	1	0	0	0	0	0	0	0	1	13525	1136	40	2		2	RNF43	17	56435253	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	14160572	56435253	24759957	66	12879										
COLEC12	81035	genome.wustl.edu	37	chr18	334982	334982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tggtgggcccggggggcctgGgtccccactggagccctgag	19	13	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr18:334982G>T	ENST00000400256.3	-	6	1783	c.1576C>A	c.(1576-1578)Cca>Aca	p.P526T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	526	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGGCCTGGGTCCCCACTG	0.721																																																	0													10	13	12					18																	334982		2133	4211	6344	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1576C>A	18.37:g.334982G>T	ENSP00000383115:p.Pro526Thr		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P526T	ENST00000400256.3	37	c.1576	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702968	0.30232	.	.	ENSG00000158270	ENST00000400256	D	0.94330	-3.4	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	L	0.52126	1.63	0.80722	D	1	P	0.41313	0.745	B	0.37346	0.247	D	0.90054	0.4151	10	0.44086	T	0.13	-12.1849	16.6212	0.84931	0.0:0.1303:0.8697:0.0	.	526	Q5KU26	COL12_HUMAN	T	526	ENSP00000383115:P526T	ENSP00000383115:P526T	P	-	1	0	COLEC12	324982	1.000000	0.71417	0.993000	0.49108	0.041000	0.13682	9.725000	0.98778	1.368000	0.46115	-0.175000	0.13238	CCA	COLEC12	-	pfam_Collagen		0.721	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	G			334982	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	T	T	334982	G	T	334982	3	4	86	1	0	0	0	0	1	0	0	0	3717	1232	43	4	672	4	COLEC12	18	334982	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		334982	77742266	67	12880										
RYR1	6261	genome.wustl.edu	37	chr19	38995470	38995470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gccccccgactatgtggatgCctcatactcatctaaggcag	9	14	3	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:38995470C>T	ENST00000359596.3	+	51	8150	c.8150C>T	c.(8149-8151)gCc>gTc	p.A2717V	RYR1_ENST00000360985.3_Missense_Mutation_p.A2717V|RYR1_ENST00000355481.4_Missense_Mutation_p.A2717V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2717	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TATGTGGATGCCTCATACTCA	0.592																																																	0													58	55	56					19																	38995470		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8150C>T	19.37:g.38995470C>T	ENSP00000352608:p.Ala2717Val		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.A2717V	ENST00000359596.3	37	c.8150	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585128	0.46110	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.66815	-0.23;-0.23;-0.23	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000005	T	0.63640	0.2528	L	0.33485	1.01	0.47737	D	0.999507	P;P	0.46784	0.884;0.816	P;B	0.47864	0.559;0.357	T	0.68138	-0.5488	10	0.54805	T	0.06	.	15.8128	0.78578	0.0:1.0:0.0:0.0	.	2717;2717	P21817-2;P21817	.;RYR1_HUMAN	V	2717	ENSP00000352608:A2717V;ENSP00000347667:A2717V;ENSP00000354254:A2717V	ENSP00000347667:A2717V	A	+	2	0	RYR1	43687310	1.000000	0.71417	0.110000	0.21437	0.186000	0.23388	7.567000	0.82357	2.334000	0.79466	0.491000	0.48974	GCC	RYR1	-	NULL		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38995470	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38995470	C	T	38995470	3	4	86	1	0	0	0	0	1	0	0	0	13798	739	26	4	8352	4	RYR1	19	38995470	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		38995470	20133513	68	12881										
MEGF8	1954	genome.wustl.edu	37	chr19	42875608	42875608	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gccagggcagctcccccagtGaccgtcgagactgctacaag	12	15	0	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:42875608G>A	ENST00000251268.6	+	41	7243	c.7243G>A	c.(7243-7245)Gac>Aac	p.D2415N	MEGF8_ENST00000378073.4_Intron|MEGF8_ENST00000334370.4_Missense_Mutation_p.D2348N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2415	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCCCCAGTGACCGTCGAGA	0.607																																																	0													80	67	71					19																	42875608		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7243G>A	19.37:g.42875608G>A	ENSP00000251268:p.Asp2415Asn		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.D2415N	ENST00000251268.6	37	c.7243		19	.	.	.	.	.	.	.	.	.	.	G	33	5.275061	0.95459	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20200	2.09;2.09	4.91	4.91	0.64330	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.22421	0.69	0.80722	D	1	D;D	0.60160	0.958;0.987	P;P	0.59357	0.613;0.856	T	0.01739	-1.1284	10	0.30854	T	0.27	-23.3963	17.7317	0.88379	0.0:0.0:1.0:0.0	.	2415;2348	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	N	2348;2415	ENSP00000334219:D2348N;ENSP00000251268:D2415N	ENSP00000251268:D2415N	D	+	1	0	MEGF8	47567448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.371000	0.90123	2.659000	0.90383	0.561000	0.74099	GAC	MEGF8	-	smart_EG-like_dom		0.607	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	G	NM_001410		42875608	1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42875608	G	A	42875608	3	1	86	1	0	0	0	0	1	0	0	0	9486	1290	45	1	7200	1	MEGF8	19	42875608	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	3880138	42875608	16253375	69	12882										
RTN2	6253	genome.wustl.edu	37	chr19	45997641	45997641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tggggagtcaagacctcgggCgatgagggctgagcaagtcg	18	8	1	3			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:45997641C>T	ENST00000245923.4	-	4	832	c.597G>A	c.(595-597)tcG>tcA	p.S199S	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000344680.4_Silent_p.S199S|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	199					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGACCTCGGGCGATGAGGGCT	0.617																																																	0													56	51	53					19																	45997641		2203	4300	6503	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.597G>A	19.37:g.45997641C>T			O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.S199	ENST00000245923.4	37	c.597	CCDS12665.1	19																																																																																			RTN2	-	NULL		0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	C	NM_005619		45997641	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	silent	SNP	0.001	T	T	45997641	C	T	45997641	2	4	86	1	0	0	0	0	0	0	0	1	13756	755	27	2		2	RTN2	19	45997641	Silent	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	3122033	45997641	13131342	70	12883										
DMPK	1760	genome.wustl.edu	37	chr19	46285499	46285499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gtcctgggccagttcggaggCgcccagctcctggtggacgc	16	14	0	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:46285499C>T	ENST00000291270.4	-	1	237	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_5'Flank|DMPK_ENST00000447742.2_Missense_Mutation_p.A38T|DMPK_ENST00000354227.5_Missense_Mutation_p.A38T|DMPK_ENST00000458663.2_Missense_Mutation_p.A38T|DMPK_ENST00000600757.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	38					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGTTCGGAGGCGCCCAGCTCC	0.697																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0													17	20	19					19																	46285499		2203	4299	6502	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.112G>A	19.37:g.46285499C>T	ENSP00000291270:p.Ala38Thr		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A38T	ENST00000291270.4	37	c.112	CCDS12674.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.559479|1.559479	0.27827|0.27827	.|.	.|.	ENSG00000104936|ENSG00000104936	ENST00000458663;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000354227|ENST00000342805	T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.2;-0.17|.	4.14|4.14	0.87|0.87	0.19102|0.19102	.|.	.|10.943000	.|0.00166	.|N	.|0.000010	T|T	0.18635|0.18635	0.0447|0.0447	N|N	0.03608|0.03608	-0.345|-0.345	0.23693|0.23693	N|N	0.99709|0.99709	B;P;P;P|B	0.44429|0.09022	0.03;0.835;0.835;0.528|0.002	B;B;B;B|B	0.25405|0.04013	0.016;0.06;0.06;0.012|0.001	T|T	0.17289|0.17289	-1.0374|-1.0374	9|9	0.22109|0.39692	T|T	0.4|0.17	.|.	5.454|5.454	0.16580|0.16580	0.0:0.5341:0.0:0.4659|0.0:0.5341:0.0:0.4659	.|.	38;38;38;38|44	Q09013-12;E5KR07;E5KR05;Q09013|G5E982	.;.;.;DMPK_HUMAN|.	T|H	38|44	ENSP00000401753:A38T;ENSP00000291270:A38T;ENSP00000413417:A38T;ENSP00000346168:A38T|.	ENSP00000291270:A38T|ENSP00000342201:R44H	A|R	-|-	1|2	0|0	DMPK|DMPK	50977339|50977339	0.006000|0.006000	0.16342|0.16342	0.644000|0.644000	0.29465|0.29465	0.943000|0.943000	0.58893|0.58893	-0.063000|-0.063000	0.11655|0.11655	0.470000|0.470000	0.27294|0.27294	0.462000|0.462000	0.41574|0.41574	GCC|CGC	DMPK	-	NULL		0.697	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	C	NM_004409		46285499	-1	no_errors	ENST00000291270	ensembl	human	known	70_37	missense	SNP	0.020	T	T	46285499	C	T	46285499	3	4	86	1	0	0	0	0	1	0	0	0	4594	768	27	2	2034	2	DMPK	19	46285499	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	287858	46285499	12843484	71	12884										
CACNG7	59284	genome.wustl.edu	37	chr19	54418666	54418666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ccatggtcagcctcttcctcGtgttcacggccttcgtcatc	8	16	4	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr19:54418666G>A	ENST00000391767.1	+	4	543	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	CACNG7_ENST00000391766.1_Missense_Mutation_p.V111M|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.V111M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	111					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTCTTCCTCGTGTTCACGGC	0.607																																																	0													108	90	96					19																	54418666		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.331G>A	19.37:g.54418666G>A	ENSP00000375647:p.Val111Met		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.V111M	ENST00000391767.1	37	c.331	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171461	0.38315	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88741	-2.42;-2.42;-2.42	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.02142	-0.665	0.80722	D	1	B	0.25351	0.124	B	0.23852	0.049	T	0.69224	-0.5201	10	0.16896	T	0.51	-24.3482	13.9093	0.63857	0.0:0.0:1.0:0.0	.	111	P62955	CCG7_HUMAN	M	111	ENSP00000375647:V111M;ENSP00000222212:V111M;ENSP00000375646:V111M	ENSP00000222212:V111M	V	+	1	0	CACNG7	59110478	0.999000	0.42202	0.939000	0.37840	0.976000	0.68499	2.906000	0.48735	2.381000	0.81170	0.563000	0.77884	GTG	CACNG7	-	pfam_PMP22/EMP/MP20/Claudin		0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	G			54418666	1	no_errors	ENST00000222212	ensembl	human	known	70_37	missense	SNP	0.998	A	A	54418666	G	A	54418666	3	1	86	1	0	0	0	0	1	0	0	0	2567	1145	40	2	341	2	CACNG7	19	54418666	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	8133167	54418666	4710317	72	12885										
SEL1L2	80343	genome.wustl.edu	37	chr20	13894427	13894427	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tcattttccttcaaaactcaCgttttgggctttacatgatc	5	10	3	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:13894427C>T	ENST00000284951.5	-	5	624		c.e5+1		SEL1L2_ENST00000486903.1_Splice_Site|SEL1L2_ENST00000378072.5_Splice_Site			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCAAAACTCACGTTTTGGGCT	0.383																																																	0													117	104	108					20																	13894427		1840	4098	5938	SO:0001630	splice_region_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.549+1G>A	20.37:g.13894427C>T			B4DXX5	Splice_Site	SNP	-	e5+1	ENST00000284951.5	37	c.549+1		20	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796335	0.70567	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEL1L2	13842427	0.999000	0.42202	0.987000	0.45799	0.906000	0.53458	4.052000	0.57420	2.941000	0.99782	0.655000	0.94253	.	SEL1L2	-	-		0.383	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	C	NM_025229	Intron	13894427	-1	no_errors	ENST00000284951	ensembl	human	known	70_37	splice_site	SNP	0.993	T	T	13894427	C	T	13894427	5	4	86	1	0	0	0	0	0	0	1	0	14041	550	19	2	1580	2	SEL1L2	20	13894427	Splice_Site	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09		13894427	49131093	73	12886										
CHD6	84181	genome.wustl.edu	37	chr20	40141618	40141618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	attttctgcgctttacttgcCttcccgagcgtcgtttctgt	8	12	2	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:40141618C>T	ENST00000373233.3	-	5	896	c.719G>A	c.(718-720)aGg>aAg	p.R240K	CHD6_ENST00000309279.7_Missense_Mutation_p.R240K|CHD6_ENST00000373222.3_Missense_Mutation_p.R275K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	240	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTACTTGCCTTCCCGAGCG	0.468																																																	0													407	337	361					20																	40141618		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.719G>A	20.37:g.40141618C>T	ENSP00000362330:p.Arg240Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R240K	ENST00000373233.3	37	c.719	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.422829	0.96111	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.65549	-0.16;-0.16;-0.16	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000068	T	0.79106	0.4390	M	0.69358	2.11	0.50813	D	0.999895	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	T	0.80434	-0.1384	10	0.72032	D	0.01	-15.9389	19.3358	0.94319	0.0:1.0:0.0:0.0	.	275;240	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	K	240;240;275	ENSP00000362330:R240K;ENSP00000308684:R240K;ENSP00000362319:R275K	ENSP00000308684:R240K	R	-	2	0	CHD6	39575032	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	7.399000	0.79935	2.578000	0.87016	0.655000	0.94253	AGG	CHD6	-	NULL		0.468	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40141618	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40141618	C	T	40141618	3	4	86	1	0	0	0	0	1	0	0	0	3334	681	24	4	7560	4	CHD6	20	40141618	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	26247191	40141618	22883902	74	12887										
PTPRT	11122	genome.wustl.edu	37	chr20	40714415	40714415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tctgtggatgatgtcctcgtCgatgtctgcggagacgaact	13	9	2	2			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:40714415C>A	ENST00000373187.1	-	28	3924	c.3925G>T	c.(3925-3927)Gac>Tac	p.D1309Y	PTPRT_ENST00000373190.1_Missense_Mutation_p.D1308Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1312Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1299Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1319Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1318Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.D1328Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1309	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGTCCTCGTCGATGTCTGCG	0.557																																																	0													87	90	89					20																	40714415		1984	4164	6148	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3925G>T	20.37:g.40714415C>A	ENSP00000362283:p.Asp1309Tyr		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D1331Y	ENST00000373187.1	37	c.3991	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744545	0.89663	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.110757	0.64402	D	0.000013	D	0.88254	0.6387	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.963	D	0.88934	0.3375	10	0.87932	D	0	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	1331;1309	O14522-1;O14522	.;PTPRT_HUMAN	Y	1308;1309;1312;1318;1331;1319;1299	ENSP00000362286:D1308Y;ENSP00000362283:D1309Y;ENSP00000362289:D1312Y;ENSP00000348408:D1318Y;ENSP00000362294:D1331Y;ENSP00000362280:D1319Y;ENSP00000362297:D1299Y	ENSP00000348408:D1318Y	D	-	1	0	PTPRT	40147829	1.000000	0.71417	0.839000	0.33178	0.761000	0.43186	7.570000	0.82390	2.765000	0.95021	0.655000	0.94253	GAC	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40714415	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	0.998	A	A	40714415	C	A	40714415	3	1	86	1	0	0	0	0	1	0	0	0	12842	884	31	3	416	3	PTPRT	20	40714415	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	572797	40714415	22311105	75	12888										
KCNS1	3787	genome.wustl.edu	37	chr20	43726320	43726320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	taccttgagcgtggctcccaGcgagcgcagcccggtggaat	14	13	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:43726320G>A	ENST00000306117.1	-	4	1489	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	KCNS1_ENST00000537075.1_Silent_p.L365L	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	365					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTGGCTCCCAGCGAGCGCAGC	0.647																																																	0													24	22	22					20																	43726320		2202	4297	6499	SO:0001819	synonymous_variant	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1093C>T	20.37:g.43726320G>A			A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.L365	ENST00000306117.1	37	c.1093	CCDS13342.1	20																																																																																			KCNS1	-	pfam_Ion_trans_dom,prints_K_chnl		0.647	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	G	NM_002251		43726320	-1	no_errors	ENST00000306117	ensembl	human	known	70_37	silent	SNP	0.999	A	A	43726320	G	A	43726320	2	1	86	1	0	0	0	0	0	0	0	1	8108	962	34	4		4	KCNS1	20	43726320	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	3011905	43726320	19299200	76	12889										
RBPJL	11317	genome.wustl.edu	37	chr20	43944934	43944934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tccttcagcaccagcctggcGtgtaccctggagccggtcac	11	16	2	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:43944934G>A	ENST00000343694.3	+	10	1200	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	RBPJL_ENST00000372743.1_Silent_p.A376A|RBPJL_ENST00000372741.3_Silent_p.A376A|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	376					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCAGCCTGGCGTGTACCCTGG	0.647																																																	0													65	59	61					20																	43944934		2203	4300	6503	SO:0001819	synonymous_variant	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1128G>A	20.37:g.43944934G>A			O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.A376	ENST00000343694.3	37	c.1128	CCDS13349.1	20																																																																																			RBPJL	-	superfamily_Ig_E-set		0.647	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	G	NM_014276		43944934	1	no_errors	ENST00000343694	ensembl	human	known	70_37	silent	SNP	0.601	A	A	43944934	G	A	43944934	2	1	86	1	0	0	0	0	0	0	0	1	13192	1132	40	2		2	RBPJL	20	43944934	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	218614	43944934	19080586	77	12890										
PREX1	57580	genome.wustl.edu	37	chr20	47307544	47307544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	acttctgcttctcctctgccGtcttggccatgcagacaaac	7	15	4	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:47307544G>A	ENST00000371941.3	-	9	1149	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	PREX1_ENST00000396220.1_Missense_Mutation_p.T376M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	376	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCCTCTGCCGTCTTGGCCAT	0.597																																																	0													171	130	144					20																	47307544		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1127C>T	20.37:g.47307544G>A	ENSP00000361009:p.Thr376Met		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T376M	ENST00000371941.3	37	c.1127	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526943	0.64860	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.90504	-2.68;-2.68	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.56097	U	0.000030	D	0.95686	0.8597	M	0.83774	2.66	0.54753	D	0.99998	D	0.89917	1.0	D	0.72338	0.977	D	0.96097	0.9066	10	0.87932	D	0	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	376	Q8TCU6	PREX1_HUMAN	M	376	ENSP00000361009:T376M;ENSP00000379522:T376M	ENSP00000361009:T376M	T	-	2	0	PREX1	46740951	1.000000	0.71417	0.968000	0.41197	0.318000	0.28184	5.402000	0.66332	2.491000	0.84063	0.655000	0.94253	ACG	PREX1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47307544	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.999	A	A	47307544	G	A	47307544	3	1	86	1	0	0	0	0	1	0	0	0	12503	1145	40	2	3980	2	PREX1	20	47307544	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	3362610	47307544	15717976	78	12891										
RTEL1	8771	genome.wustl.edu	37	chr20	62326563	62326563	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tcctgtgcttacccacagggCtccccaaccaggtagggcac	10	16	0	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr20:62326563C>T	ENST00000369996.1	+	0	0				RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1163V|RTEL1_ENST00000370018.3_Missense_Mutation_p.A1163V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A1187V|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1163V|RTEL1_ENST00000370003.1_Missense_Mutation_p.A408V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1163V	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACCCACAGGGCTCCCCAACCA	0.701																																																	0													31	37	35					20																	62326563		2177	4277	6454	SO:0001631	upstream_gene_variant	51750			AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326563C>T	Exception_encountered			Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A1163V	ENST00000369996.1	37	c.3488	CCDS13532.1	20	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500731	0.26861	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;D;T	0.82255	-1.56;-1.59;-1.52;-1.56;0.85	3.98	0.558	0.17266	.	11.013500	0.00166	N	0.000001	T	0.71888	0.3393	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.38827	0.178;0.649;0.112;0.178	B;B;B;B	0.36666	0.058;0.23;0.016;0.036	T	0.60910	-0.7169	10	0.30078	T	0.28	-0.3551	6.9642	0.24613	0.5078:0.3365:0.1557:0.0	.	1187;408;1163;1163	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	V	1163;1163;1187;1163;408	ENSP00000359035:A1163V;ENSP00000322287:A1163V;ENSP00000424307:A1187V;ENSP00000353332:A1163V;ENSP00000359020:A408V	ENSP00000353332:A1163V	A	+	2	0	AL353715.1	61797007	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.591000	0.23969	-0.099000	0.12263	0.462000	0.41574	GCT	RTEL1	-	NULL		0.701	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000080182.1	C			62326563	1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	0.001	T	T	62326563	C	T	62326563	1	4	86	0	1	0	0	0	0	0	0	0	13750	797	28	4		4	RTEL1	20	62326563	5'Flank	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	15019019	62326563	698957	79	12892										
CSF2RB	1439	genome.wustl.edu	37	chr22	37330014	37330014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	tggagcgagtggagtgaggcGcgctcctgggacaccgagtc	18	10	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chr22:37330014G>A	ENST00000403662.3	+	10	1515	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	CSF2RB_ENST00000406230.1_Silent_p.A437A|CSF2RB_ENST00000536485.1_Silent_p.A378A|CSF2RB_ENST00000262825.5_Silent_p.A437A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGTGAGGCGCGCTCCTGGG	0.637																																																	0													54	53	53					22																	37330014		2203	4300	6503	SO:0001819	synonymous_variant	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1293G>A	22.37:g.37330014G>A			Q5JZI1|Q6ICE0	Silent	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.A437	ENST00000403662.3	37	c.1311	CCDS13936.1	22																																																																																			CSF2RB	-	superfamily_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3		0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	G	NM_000395		37330014	1	no_errors	ENST00000262825	ensembl	human	known	70_37	silent	SNP	0.002	A	A	37330014	G	A	37330014	2	1	86	1	0	0	0	0	0	0	0	1	3940	1074	38	2		2	CSF2RB	22	37330014	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		37330014	13974552	80	12893										
KLHL15	80311	genome.wustl.edu	37	chrX	24006425	24006425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	atcttgtgaaagcatctcgcGtaattcatcttgctcttatt	6	9	5	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:24006425G>A	ENST00000328046.8	-	4	1683	c.1428C>T	c.(1426-1428)taC>taT	p.Y476Y		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	476					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AGCATCTCGCGTAATTCATCT	0.468																																																	0													192	171	178					X																	24006425		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1428C>T	X.37:g.24006425G>A			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y476	ENST00000328046.8	37	c.1428	CCDS35217.1	X																																																																																			KLHL15	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	G	XM_040383		24006425	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	silent	SNP	0.905	A	A	24006425	G	A	24006425	2	1	86	1	0	0	0	0	0	0	0	1	8391	1140	40	2		2	KLHL15	23	24006425	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09		24006425	131264135	81	12894										
DMD	1756	genome.wustl.edu	37	chrX	32360321	32360321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	ctccactgccattgcggcccCatcctcagacaagccctcag	7	19	2	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:32360321C>T	ENST00000357033.4	-	41	6024	c.5818G>A	c.(5818-5820)Ggg>Agg	p.G1940R	DMD_ENST00000378677.2_Missense_Mutation_p.G1936R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1940					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTGCGGCCCCATCCTCAGAC	0.498																																																	0													104	72	83					X																	32360321		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5818G>A	X.37:g.32360321C>T	ENSP00000354923:p.Gly1940Arg		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.G1940R	ENST00000357033.4	37	c.5818	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221010	0.58560	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.54675	0.56;0.56	5.76	5.76	0.90799	.	0.000000	0.37761	U	0.001960	T	0.62877	0.2464	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.62932	-0.6749	10	0.42905	T	0.14	.	18.8949	0.92419	0.0:1.0:0.0:0.0	.	1932;1940;1936;599;596	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	R	1932;599;596;1936;1940;1940;1817	ENSP00000367948:G1936R;ENSP00000354923:G1940R	ENSP00000354923:G1940R	G	-	1	0	DMD	32270242	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.775000	0.75018	2.409000	0.81822	0.594000	0.82650	GGG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32360321	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32360321	C	T	32360321	3	4	86	1	0	0	0	0	1	0	0	0	4590	594	21	4	5543	4	DMD	23	32360321	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	8353896	32360321	122910239	82	12895										
DMD	1756	genome.wustl.edu	37	chrX	32717261	32717261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gtgcatttgatgatgtaactGaaaatgttcttctttagtca	8	5	3	3			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:32717261G>A	ENST00000357033.4	-	8	1005	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	DMD_ENST00000288447.4_Nonsense_Mutation_p.Q259*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q263*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	267					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATGTAACTGAAAATGTTCT	0.373																																																	0													186	148	161					X																	32717261		2202	4300	6502	SO:0001587	stop_gained	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.799C>T	X.37:g.32717261G>A	ENSP00000354923:p.Gln267*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	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,pfam_CAMSAP_CH,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.Q267*	ENST00000357033.4	37	c.799	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	g	37	6.352223	0.97498	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.58	3.76	0.43208	.	0.000000	0.35936	U	0.002900	.	.	.	.	.	.	0.21822	N	0.999526	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2187	0.48842	0.0:0.3644:0.5062:0.1293	.	.	.	.	X	259;263;267;267;144;259	.	ENSP00000288447:Q259X	Q	-	1	0	DMD	32627182	1.000000	0.71417	0.844000	0.33320	0.920000	0.55202	3.421000	0.52742	0.492000	0.27815	0.513000	0.50165	CAG	DMD	-	pirsf_Dystrophin/utrophin		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32717261	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	nonsense	SNP	0.103	A	A	32717261	G	A	32717261	4	1	86	1	0	0	0	0	0	1	0	0	4590	1299	45	1	10789	1	DMD	23	32717261	Nonsense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	356940	32717261	122553299	83	12896										
CASK	8573	genome.wustl.edu	37	chrX	41419101	41419101	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	atactcccccgcatttccctCtggagggggggtggtgggaa	15	11	1	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:41419101C>T	ENST00000378163.1	-	18	2143		c.e18-1		CASK_ENST00000378154.1_Splice_Site|CASK_ENST00000318588.9_Splice_Site|CASK_ENST00000378166.4_Splice_Site|CASK_ENST00000442742.2_Splice_Site|CASK_ENST00000378158.1_Splice_Site|CASK_ENST00000361962.4_Splice_Site|CASK_ENST00000472704.1_Splice_Site|CASK_ENST00000421587.2_Splice_Site			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)						calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCATTTCCCTCTGGAGGGGGG	0.468																																					NSCLC(42;104 1086 3090 27189 35040)												0													56	44	48					X																	41419101		2203	4300	6503	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1669-1G>A	X.37:g.41419101C>T			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Splice_Site	SNP	-	e18-1	ENST00000378163.1	37	c.1669-1		X	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164017	0.78339	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3572	0.94420	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASK	41304045	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.487000	0.81328	2.524000	0.85096	0.600000	0.82982	.	CASK	-	-		0.468	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688	Intron	41419101	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	41419101	C	T	41419101	5	4	86	1	0	0	0	0	0	0	1	0	2670	927	32	1	1152	1	CASK	23	41419101	Splice_Site	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	8701840	41419101	113851459	84	12897										
KLHL4	56062	genome.wustl.edu	37	chrX	86890562	86890562	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	caattctgtctttttatctaGattatatgctattggtggac	7	6	3	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:86890562G>T	ENST00000373119.4	+	9	1857		c.e9-1		KLHL4_ENST00000373114.4_Splice_Site	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTTTTATCTAGATTATATGCT	0.378																																																	0													79	68	72					X																	86890562		2203	4300	6503	SO:0001630	splice_region_variant	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1713-1G>T	X.37:g.86890562G>T			B2RTW2|Q9Y3J5	Splice_Site	SNP	-	e9-1	ENST00000373119.4	37	c.1713-1	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082775	0.76528	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8468	0.46746	0.0949:0.0:0.9051:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL4	86777218	1.000000	0.71417	0.019000	0.16419	0.771000	0.43674	8.896000	0.92521	0.988000	0.38734	0.513000	0.50165	.	KLHL4	-	-		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	G		Intron	86890562	1	no_errors	ENST00000373114	ensembl	human	known	70_37	splice_site	SNP	0.953	T	T	86890562	G	T	86890562	5	4	86	1	0	0	0	0	0	0	1	0	8411	956	33	3	1746	3	KLHL4	23	86890562	Splice_Site	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	45471461	86890562	68379998	85	12898										
LHFPL1	340596	genome.wustl.edu	37	chrX	111914462	111914462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gtgtccctctccccgcacagGgtagttgcacctccggaatg	11	15	1	0			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:111914462G>T	ENST00000371968.3	-	2	396	c.157C>A	c.(157-159)Cct>Act	p.P53T	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.P53T	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	53						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CCCCGCACAGGGTAGTTGCAC	0.547																																																	0													166	150	156					X																	111914462		2203	4300	6503	SO:0001583	missense	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.157C>A	X.37:g.111914462G>T	ENSP00000361036:p.Pro53Thr		A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.P53T	ENST00000371968.3	37	c.157	CCDS14562.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192323	0.78902	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73897	-0.79;0.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.83314	-0.0021	10	0.12103	T	0.63	-29.699	15.1347	0.72555	0.0:0.0:1.0:0.0	.	53;53	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	T	53	ENSP00000361036:P53T;ENSP00000444573:P53T	ENSP00000361036:P53T	P	-	1	0	LHFPL1	111801118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.456000	0.83038	0.600000	0.82982	CCT	LHFPL1	-	pfam_Lipome_HGMIC_fus_partner-like		0.547	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL1	HGNC	protein_coding	OTTHUMT00000057947.1	G	NM_178175		111914462	-1	no_errors	ENST00000371968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111914462	G	T	111914462	3	4	86	1	0	0	0	0	1	0	0	0	8784	1232	43	4	517	4	LHFPL1	23	111914462	Missense_Mutation	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	25023900	111914462	43356098	86	12899										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130222712	130222712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	accgcccattgctccgtgtgCcccgggagaaggaggccaaa	13	14	0	1			TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:130222712C>T	ENST00000276211.5	+	12	1942	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P521S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P397S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	533					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTCCGTGTGCCCCGGGAGAA	0.577																																																	0													76	70	72					X																	130222712		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1597C>T	X.37:g.130222712C>T	ENSP00000276211:p.Pro533Ser		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P533S	ENST00000276211.5	37	c.1597	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332391	0.60853	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.15139	2.45;2.49;2.49;2.45	4.31	4.31	0.51392	.	0.000000	0.47455	D	0.000240	T	0.20618	0.0496	N	0.08118	0	0.30014	N	0.814947	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.03922	-1.0992	10	0.72032	D	0.01	.	11.0842	0.48078	0.0:1.0:0.0:0.0	.	502;521;533	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	533;521;502;397	ENSP00000276211:P533S;ENSP00000359960:P521S;ENSP00000408515:P502S;ENSP00000359959:P397S	ENSP00000276211:P533S	P	+	1	0	ARHGAP36	130050393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.383000	0.81215	0.600000	0.82982	CCC	ARHGAP36	-	NULL		0.577	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130222712	1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130222712	C	T	130222712	3	4	86	1	0	0	0	0	1	0	0	0	883	739	26	4	1639	4	ARHGAP36	23	130222712	Missense_Mutation	SNP	C	TCGA-EA-A5FO-01A-21D-A28B-09	18308250	130222712	25047848	87	12900										
DNASE1L1	1774	genome.wustl.edu	37	chrX	153631924	153631924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.170454545454545	15	0.0345332281373026	1.72661233167966	3.9136546184739	1.66033832298893	6.84434240152135e-06	8.85201617263428e-05	6	gcaaagacgtcatcctcatcGttgtacacgtaggaactcag	9	11	3	1	rs373072839		TCGA-EA-A5FO-01A-21D-A28B-09	TCGA-EA-A5FO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a852e70-6552-4734-876f-ceb4ed421833	37be35f5-6f57-49fb-be04-8d0cc014f4db	g.chrX:153631924G>A	ENST00000393638.1	-	5	637	c.351C>T	c.(349-351)aaC>aaT	p.N117N	DNASE1L1_ENST00000369809.1_Silent_p.N117N	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	117					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCCTCATCGTTGTACACGT	0.547													G|||	1	0.000264901	0	0	3775	,	,		15122	0		0	False		,,,				2504	0.001																0									,,,	0,3835		0,0,1632,571	123	101	109		351,351,351,351	-8.5	0	X		109	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNASE1L1	NM_001009932.1,NM_001009933.1,NM_001009934.1,NM_006730.2	,,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,,	117/303,117/303,117/303,117/303	153631924	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.351C>T	X.37:g.153631924G>A			D3DWW7|Q5HY41	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.N117	ENST00000393638.1	37	c.351	CCDS14747.1	X																																																																																			DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk		0.547	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	G			153631924	-1	no_errors	ENST00000014935	ensembl	human	known	70_37	silent	SNP	0.000	A	A	153631924	G	A	153631924	2	1	86	1	0	0	0	0	0	0	0	1	4671	1136	40	2		2	DNASE1L1	23	153631924	Silent	SNP	G	TCGA-EA-A5FO-01A-21D-A28B-09	23409212	153631924	1638636	88	12901										
ATAD3A	55210	genome.wustl.edu	37	chr1	1455604	1455604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cccgggcgcgcgccaaggccGagcgggagaatgcagacatc	16	14	0	2	rs566166002		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:1455604G>A	ENST00000378755.5	+	6	836	c.742G>A	c.(742-744)Gag>Aag	p.E248K	ATAD3A_ENST00000536055.1_Missense_Mutation_p.E121K|ATAD3A_ENST00000378756.3_Missense_Mutation_p.E200K	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	248					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CGCCAAGGCCGAGCGGGAGAA	0.677													g|||	1	0.000199681	0	0	5008	,	,		15881	0.001		0	False		,,,				2504	0																0													36	37	37					1																	1455604		2202	4299	6501	SO:0001583	missense	55210			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.742G>A	1.37:g.1455604G>A	ENSP00000368030:p.Glu248Lys		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E248K	ENST00000378755.5	37	c.742	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.06|16.06	3.016240|3.016240	0.54468|0.54468	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957|ENST00000339113	T;T;T|.	0.30448|.	2.45;1.53;2.94|.	4.15|4.15	4.15|4.15	0.48705|0.48705	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);|.	0.053605|.	0.64402|.	D|.	0.000001|.	T|T	0.79263|0.79263	0.4416|0.4416	M|M	0.86740|0.86740	2.835|2.835	0.54753|0.54753	D|D	0.999989|0.999989	D;D|.	0.71674|.	0.994;0.998|.	P;D|.	0.63597|.	0.798;0.916|.	T|T	0.83225|0.83225	-0.0066|-0.0066	10|5	0.48119|.	T|.	0.1|.	.|.	15.7847|15.7847	0.78294|0.78294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;248|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	K|Q	200;248;121;82|185	ENSP00000368031:E200K;ENSP00000368030:E248K;ENSP00000439290:E121K|.	ENSP00000368030:E248K|.	E|R	+|+	1|2	0|0	ATAD3A|ATAD3A	1445467|1445467	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.034000|0.034000	0.12701|0.12701	9.338000|9.338000	0.96553|0.96553	2.018000|2.018000	0.59344|0.59344	0.561000|0.561000	0.74099|0.74099	GAG|CGA	ATAD3A	-	pfam_DUF3523		0.677	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	G	NM_018188		1455604	1	no_errors	ENST00000378755	ensembl	human	known	70_37	missense	SNP	0.999	A	A	1455604	G	A	1455604	3	1	87	1	0	0	0	0	1	0	0	0	1074	1059	37	1	764	1	ATAD3A	1	1455604	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09		1455604	247795017	1	12902										
KIAA1751	85452	genome.wustl.edu	37	chr1	1896377	1896377	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gaaggggcgtccttggaactCacgcccccacaccacctgct	10	17	1	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:1896377C>T								TMEM52 (45665 upstream) : C1orf222 (23185 downstream)																							CCTTGGAACTCACGCCCCCAC	0.657																																																	0													39	47	44					1																	1896377		2083	4197	6280	SO:0001628	intergenic_variant	85452																															1.37:g.1896377C>T				Missense_Mutation	SNP	NULL	p.E509K		37	c.1525		1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.418626	0.42918	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000001	T	0.58552	0.2130	L	0.60455	1.87	0.80722	D	1	B;B	0.31435	0.323;0.027	B;B	0.30495	0.116;0.028	T	0.60326	-0.7285	9	0.38643	T	0.18	-38.3163	15.0164	0.71588	0.0:1.0:0.0:0.0	.	509;509	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	K	509	.	ENSP00000270720:E509K	E	-	1	0	C1orf222	1886237	0.973000	0.33851	0.932000	0.37286	0.217000	0.24651	2.381000	0.44336	2.203000	0.70933	0.556000	0.70494	GAG	C1orf222	-	NULL	0	0.657					C1orf222	HGNC			C			1896377	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.998	T	T	1896377	C	T	1896377	1	4	87	0	1	0	0	0	0	0	0	0	8276	835	29	1		1	KIAA1751	1	1896377	IGR	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	440773	1896377	247354244	2	12903										
MTOR	2475	genome.wustl.edu	37	chr1	11181396	11181396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	aacacctccaccttctgcatCagagtcaagtggtcatagtc	7	13	4	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:11181396C>T	ENST00000361445.4	-	49	6916	c.6840G>A	c.(6838-6840)ctG>ctA	p.L2280L	MTOR_ENST00000376838.1_Silent_p.L485L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2280	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTTCTGCATCAGAGTCAAGT	0.532																																																	0													134	108	117					1																	11181396		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6840G>A	1.37:g.11181396C>T			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2280	ENST00000361445.4	37	c.6840	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11181396	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11181396	C	T	11181396	2	4	87	1	0	0	0	0	0	0	0	1	9977	813	29	1		1	MTOR	1	11181396	Silent	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	9285019	11181396	238069225	3	12904										
NBPF3	84224	genome.wustl.edu	37	chr1	21809724	21809724	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cgactacttcaacttactttCaactacatgcctcattccag	3	14	3	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:21809724C>G	ENST00000318249.5	+	15	2097	c.1747C>G	c.(1747-1749)Caa>Gaa	p.Q583E	NBPF3_ENST00000454000.2_Missense_Mutation_p.Q513E|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q571E|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q527E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	583	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACTTACTTTCAACTACATGC	0.448																																																	0													85	55	65					1																	21809724		2173	4222	6395	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1747C>G	1.37:g.21809724C>G	ENSP00000316782:p.Gln583Glu		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.Q583E	ENST00000318249.5	37	c.1747	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.885556	0.00061	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	1.03	-1.38	0.09027	DUF1220 (2);	.	.	.	.	T	0.00754	0.0025	N	0.00041	-2.485	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45352	-0.9267	9	0.02654	T	1	.	6.6119	0.22757	0.0:0.5987:0.4013:0.0	.	513;571;583	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	E	513;527;583;571;527	ENSP00000415711:Q513E;ENSP00000316739:Q527E;ENSP00000316782:Q583E;ENSP00000340336:Q571E;ENSP00000391865:Q527E	ENSP00000316739:Q527E	Q	+	1	0	NBPF3	21682311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.452000	0.07087	-0.560000	0.04181	CAA	NBPF3	-	pfam_NBPF_dom		0.448	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		C	NM_032264		21809724	1	no_errors	ENST00000318249	ensembl	human	known	70_37	missense	SNP	0.000	G	G	21809724	C	G	21809724	3	3	87	1	0	0	0	0	1	0	0	0	10221	827	29	1	1801	1	NBPF3	1	21809724	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	10628328	21809724	227440897	4	12905										
NT5C1A	84618	genome.wustl.edu	37	chr1	40131256	40131256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	atggttgttagtcatgaggaCgatgtcgaagacgtcctcac	12	8	2	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:40131256C>T	ENST00000235628.1	-	3	369	c.370G>A	c.(370-372)Gtc>Atc	p.V124I		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	124					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCATGAGGACGATGTCGAAG	0.582																																																	0													134	105	115					1																	40131256		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.370G>A	1.37:g.40131256C>T	ENSP00000235628:p.Val124Ile		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.V124I	ENST00000235628.1	37	c.370	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026964	0.35797	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.67542	-0.5644	9	0.23891	T	0.37	-5.9488	19.2929	0.94110	0.0:1.0:0.0:0.0	.	124	Q9BXI3	5NT1A_HUMAN	I	124	.	ENSP00000235628:V124I	V	-	1	0	NT5C1A	39903843	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	5.991000	0.70602	2.636000	0.89361	0.655000	0.94253	GTC	NT5C1A	-	pfam_5-nucleotidase		0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	C	NM_032526		40131256	-1	no_errors	ENST00000235628	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40131256	C	T	40131256	3	4	87	1	0	0	0	0	1	0	0	0	10709	536	19	2	752	2	NT5C1A	1	40131256	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	18321532	40131256	209119365	5	12906										
IPO13	9670	genome.wustl.edu	37	chr1	44424143	44424143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tgccccacagacaagccagtGcatgtggctgatgcaggcgc	13	13	0	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:44424143G>T	ENST00000372343.3	+	10	2422	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	587					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACAAGCCAGTGCATGTGGCTG	0.522																																																	0													87	92	90					1																	44424143		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1760G>T	1.37:g.44424143G>T	ENSP00000361418:p.Cys587Phe		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.C587F	ENST00000372343.3	37	c.1760	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427479	0.83667	.	.	ENSG00000117408	ENST00000372343	T	0.66280	-0.2	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.70346	-0.4897	10	0.46703	T	0.11	-21.7275	20.0817	0.97778	0.0:0.0:1.0:0.0	.	587	O94829	IPO13_HUMAN	F	587	ENSP00000361418:C587F	ENSP00000361418:C587F	C	+	2	0	IPO13	44196730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.342000	0.97044	2.743000	0.94032	0.650000	0.86243	TGC	IPO13	-	superfamily_ARM-type_fold		0.522	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	G	NM_014652		44424143	1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44424143	G	T	44424143	3	4	87	1	0	0	0	0	1	0	0	0	7814	1319	46	4	1798	4	IPO13	1	44424143	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	4292887	44424143	204826478	6	12907										
WDR63	126820	genome.wustl.edu	37	chr1	85559238	85559238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gcacctttggggacaagaccGatacccacctgaaagagtac	10	12	0	3	rs199712026		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:85559238G>A	ENST00000294664.6	+	9	1135	c.955G>A	c.(955-957)Gat>Aat	p.D319N	WDR63_ENST00000370596.1_Missense_Mutation_p.D280N|WDR63_ENST00000326813.8_Missense_Mutation_p.D280N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	319										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGACAAGACCGATACCCACCT	0.438																																																	0								G	ASN/ASP	0,4406		0,0,2203	191	178	183		955	4.9	1	1		183	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR63	NM_145172.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	319/892	85559238	1,13005	2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.955G>A	1.37:g.85559238G>A	ENSP00000294664:p.Asp319Asn		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D319N	ENST00000294664.6	37	c.955	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681297	0.47991	0.0	1.16E-4	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.44482	0.92;0.92;0.93	5.84	4.93	0.64822	WD40 repeat-like-containing domain (1);	0.359095	0.34200	N	0.004171	T	0.22475	0.0542	L	0.58583	1.82	0.38799	D	0.955157	B;B	0.27853	0.191;0.06	B;B	0.25405	0.06;0.016	T	0.07849	-1.0751	10	0.16896	T	0.51	-9.1006	14.7247	0.69336	0.0692:0.0:0.9308:0.0	.	280;319	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	N	280;280;319	ENSP00000359628:D280N;ENSP00000317463:D280N;ENSP00000294664:D319N	ENSP00000294664:D319N	D	+	1	0	WDR63	85331826	1.000000	0.71417	0.986000	0.45419	0.783000	0.44284	3.224000	0.51238	1.477000	0.48234	0.650000	0.86243	GAT	WDR63	-	superfamily_WD40_repeat_dom		0.438	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	G	NM_145172		85559238	1	no_errors	ENST00000294664	ensembl	human	known	70_37	missense	SNP	0.996	A	A	85559238	G	A	85559238	3	1	87	1	0	0	0	0	1	0	0	0	17345	1058	37	1	985	1	WDR63	1	85559238	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	41135095	85559238	163691383	7	12908										
EVI5	7813	genome.wustl.edu	37	chr1	93160919	93160919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	caattggtagtggaaaagttGtaagaaagatagtcagaaac	11	3	1	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:93160919G>T	ENST00000370331.1	-	7	998	c.989C>A	c.(988-990)aCa>aAa	p.T330K	EVI5_ENST00000543509.1_Missense_Mutation_p.T330K|EVI5_ENST00000540033.1_Missense_Mutation_p.T330K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	330	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGGAAAAGTTGTAAGAAAGAT	0.398																																																	0													114	116	115					1																	93160919		2203	4300	6503	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.989C>A	1.37:g.93160919G>T	ENSP00000359356:p.Thr330Lys		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T330K	ENST00000370331.1	37	c.989	CCDS30774.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210047	0.79240	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.21191	2.02;2.02;2.02	5.94	5.94	0.96194	Rab-GAP/TBC domain (4);	0.091610	0.85682	D	0.000000	T	0.20088	0.0483	L	0.57536	1.79	0.80722	D	1	B;B	0.23806	0.074;0.091	B;B	0.32022	0.085;0.139	T	0.02232	-1.1191	10	0.66056	D	0.02	-14.6839	20.3552	0.98837	0.0:0.0:1.0:0.0	.	330;330	F5H4R0;O60447	.;EVI5_HUMAN	K	330	ENSP00000359356:T330K;ENSP00000440826:T330K;ENSP00000445019:T330K	ENSP00000359356:T330K	T	-	2	0	EVI5	92933507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.793000	0.99091	2.812000	0.96745	0.557000	0.71058	ACA	EVI5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.398	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	G	NM_005665		93160919	-1	no_errors	ENST00000543509	ensembl	human	known	70_37	missense	SNP	1.000	T	T	93160919	G	T	93160919	3	4	87	1	0	0	0	0	1	0	0	0	5301	1377	48	4	1491	4	EVI5	1	93160919	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	7601681	93160919	156089702	8	12909										
KCND3	3752	genome.wustl.edu	37	chr1	112525203	112525203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tcctccaggtctggaacctcCgcccactcacgttgaggaca	9	16	2	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:112525203C>T	ENST00000315987.2	-	2	625	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	KCND3_ENST00000369697.1_Missense_Mutation_p.R49Q|KCND3_ENST00000302127.4_Missense_Mutation_p.R49Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	49					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGAACCTCCGCCCACTCAC	0.637																																																	0													72	68	69					1																	112525203		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.146G>A	1.37:g.112525203C>T	ENSP00000319591:p.Arg49Gln		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R49Q	ENST00000315987.2	37	c.146	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868260	0.51588	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.42513	0.97;0.97;0.97	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	L	0.48362	1.52	0.80722	D	1	P;P	0.42010	0.768;0.592	B;B	0.35039	0.194;0.089	T	0.11916	-1.0568	10	0.48119	T	0.1	.	18.7773	0.91916	0.0:1.0:0.0:0.0	.	49;49	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	49	ENSP00000358711:R49Q;ENSP00000319591:R49Q;ENSP00000306923:R49Q	ENSP00000306923:R49Q	R	-	2	0	KCND3	112326726	1.000000	0.71417	0.958000	0.39756	0.984000	0.73092	4.813000	0.62620	2.542000	0.85734	0.561000	0.74099	CGG	KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.637	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	C	NM_172198		112525203	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	missense	SNP	0.986	T	T	112525203	C	T	112525203	3	4	87	1	0	0	0	0	1	0	0	0	8040	652	23	2	1849	2	KCND3	1	112525203	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	19364284	112525203	136725418	9	12910										
PLEKHO1	51177	genome.wustl.edu	37	chr1	150129152	150129152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	agtccagaagagaaggaatcGtggatcaatgccctcaactc	10	10	2	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:150129152G>A	ENST00000369124.4	+	4	644	c.366G>A	c.(364-366)tcG>tcA	p.S122S	PLEKHO1_ENST00000025469.6_Silent_p.S122S|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	122	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAGGAATCGTGGATCAATG	0.572																																																	0													107	101	103					1																	150129152		2203	4300	6503	SO:0001819	synonymous_variant	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.366G>A	1.37:g.150129152G>A			Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S122	ENST00000369124.4	37	c.366	CCDS945.1	1																																																																																			PLEKHO1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.572	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	G	NM_016274		150129152	1	no_errors	ENST00000369124	ensembl	human	known	70_37	silent	SNP	0.140	A	A	150129152	G	A	150129152	2	1	87	1	0	0	0	0	0	0	0	1	12108	1132	40	2		2	PLEKHO1	1	150129152	Silent	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	37603949	150129152	99121469	10	12911										
ASH1L	55870	genome.wustl.edu	37	chr1	155449314	155449314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tacttacagggctctgacctCcactagtcccagaagactga	8	13	1	4			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:155449314C>G	ENST00000368346.3	-	3	3986	c.3347G>C	c.(3346-3348)gGa>gCa	p.G1116A	ASH1L_ENST00000392403.3_Missense_Mutation_p.G1116A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1116					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTCTGACCTCCACTAGTCCC	0.453																																																	0													83	77	79					1																	155449314		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3347G>C	1.37:g.155449314C>G	ENSP00000357330:p.Gly1116Ala		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.G1116A	ENST00000368346.3	37	c.3347		1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403729	0.62288	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.94330	-3.4;-3.39	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.94595	0.7791	10	0.62326	D	0.03	.	18.2607	0.90034	0.0:1.0:0.0:0.0	.	1116;1116	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	1116	ENSP00000357330:G1116A;ENSP00000376204:G1116A	ENSP00000357330:G1116A	G	-	2	0	ASH1L	153715938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.487000	0.66863	2.645000	0.89757	0.591000	0.81541	GGA	ASH1L	-	NULL		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155449314	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155449314	C	G	155449314	3	3	87	1	0	0	0	0	1	0	0	0	1042	855	30	1	5651	1	ASH1L	1	155449314	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	5320162	155449314	93801307	11	12912										
AHCTF1	25909	genome.wustl.edu	37	chr1	247031024	247031024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ccaaacttctccaattttagAtaacacattgttgatgaaaa	4	8	1	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr1:247031024A>G	ENST00000391829.2	-	25	3301	c.3178T>C	c.(3178-3180)Tct>Cct	p.S1060P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1069P|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1095P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1060	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCAATTTTAGATAACACATTG	0.363																																					Colon(145;197 1800 4745 15099 26333)												0													131	125	127					1																	247031024		2203	4297	6500	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3178T>C	1.37:g.247031024A>G	ENSP00000375705:p.Ser1060Pro		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.S1069P	ENST00000391829.2	37	c.3205		1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572522	0.65765	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.78707	-1.2;-1.2;-1.2	4.77	4.77	0.60923	.	0.210837	0.41712	D	0.000826	D	0.86234	0.5884	M	0.70275	2.135	0.43430	D	0.995594	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	D	0.85420	0.1142	10	0.33940	T	0.23	-20.1087	14.6034	0.68460	1.0:0.0:0.0:0.0	.	1095;1060	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	P	1095;1069;1060	ENSP00000355464:S1095P;ENSP00000355465:S1069P;ENSP00000375705:S1060P	ENSP00000355465:S1069P	S	-	1	0	AHCTF1	245097647	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.198000	0.58419	1.910000	0.55303	0.377000	0.23210	TCT	AHCTF1	-	NULL		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		A	NM_015446		247031024	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	0.997	G	G	247031024	A	G	247031024	3	3	87	1	0	0	0	0	1	0	0	0	408	333	12	5	3670	5	AHCTF1	1	247031024	Missense_Mutation	SNP	A	TCGA-EA-A5O9-01A-11D-A28B-09	91581710	247031024	2219597	12	12913										
ABCG8	64241	genome.wustl.edu	37	chr2	44073306	44073306	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ccccacaggtggacctggccTctcaggtcccttggtttgag	12	14	1	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:44073306T>A	ENST00000272286.2	+	3	268	c.178T>A	c.(178-180)Tct>Act	p.S60T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	60	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGACCTGGCCTCTCAGGTCCC	0.532																																																	0													67	68	67					2																	44073306		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.178T>A	2.37:g.44073306T>A	ENSP00000272286:p.Ser60Thr		Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.S60T	ENST00000272286.2	37	c.178	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961454	0.34565	.	.	ENSG00000143921	ENST00000272286	D	0.87966	-2.32	5.69	3.22	0.36961	ABC transporter-like (1);	0.237383	0.43919	D	0.000516	T	0.81767	0.4892	N	0.14661	0.345	0.39880	D	0.973622	P;P	0.52061	0.95;0.917	P;P	0.52386	0.697;0.501	T	0.77370	-0.2613	10	0.22706	T	0.39	.	12.5626	0.56291	0.0:0.0:0.4038:0.5962	.	60;60	Q9H221-2;Q9H221	.;ABCG8_HUMAN	T	60	ENSP00000272286:S60T	ENSP00000272286:S60T	S	+	1	0	ABCG8	43926810	1.000000	0.71417	0.835000	0.33067	0.001000	0.01503	2.425000	0.44723	0.389000	0.25086	-0.323000	0.08544	TCT	ABCG8	-	pfscan_ABC_transporter-like		0.532	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	T	NM_022437		44073306	1	no_errors	ENST00000272286	ensembl	human	known	70_37	missense	SNP	0.998	A	A	44073306	T	A	44073306	3	1	87	1	0	0	0	0	1	0	0	0	72	1551	54	5	188	5	ABCG8	2	44073306	Missense_Mutation	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09		44073306	199126067	13	12914										
DNAH6	1768	genome.wustl.edu	37	chr2	84942753	84942754	+	Splice_Site	INS	-	-	A													0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ggaggatcagttgttaaggtINSaaaaaaacagggagttgagg					rs541953058	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:84942753_84942754insA	ENST00000237449.6	+	57	9619		c.e57+2		DNAH6_ENST00000389394.3_Splice_Site			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTTGTTAAGGTAAAAAAACAGG	0.381													?|AAAAAAA|AAAAAAAA|unsure	3	0.000599042	8e-04	0.0014	5008	,	,		19504	0		0	False		,,,				2504	0.001																0																																										SO:0001630	splice_region_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9611+2->A	2.37:g.84942760_84942760dupA			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Splice_Site	INS	-	e57+2	ENST00000237449.6	37	c.9611+2_9611+1	CCDS46348.1	2																																																																																			DNAH6	-	-		0.381	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	NM_001370	Intron	84942754	1	no_errors	ENST00000237449	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.967	A	A	84942754	-	A	84942753	8	5	87	1	0	1	1	0	0	0	1	0	4615	1652	57	0	9839	0	DNAH6	2	84942753	Splice_Site	INS	-	TCGA-EA-A5O9-01A-11D-A28B-09	40869447	84942753	158256620	14	12915										
CXCR2	3579	genome.wustl.edu	37	chr2	219000467	219000467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gcctcaaccccctcatctacGccttcattggccagaagttt	6	16	4	1	rs200906463		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr2:219000467G>A	ENST00000318507.2	+	3	1370	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	315					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCTCATCTACGCCTTCATTGG	0.557																																																	0													93	91	92					2																	219000467		2203	4300	6503	SO:0001583	missense	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.943G>A	2.37:g.219000467G>A	ENSP00000319635:p.Ala315Thr		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXC/IL8_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2/IL8RB,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.A315T	ENST00000318507.2	37	c.943	CCDS2408.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.173854	0.94807	.	.	ENSG00000180871	ENST00000318507	T	0.38240	1.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.75447	2.3	0.58432	D	0.999998	D	0.89917	1.0	P	0.62813	0.907	T	0.59804	-0.7385	9	.	.	.	.	17.9176	0.88957	0.0:0.0:1.0:0.0	.	315	P25025	CXCR2_HUMAN	T	315	ENSP00000319635:A315T	.	A	+	1	0	CXCR2	218708712	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.918000	0.87506	2.529000	0.85273	0.456000	0.33151	GCC	CXCR2	-	prints_GPCR_Rhodpsn		0.557	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2	G	NM_001557		219000467	1	no_errors	ENST00000318507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	219000467	G	A	219000467	3	1	87	1	0	0	0	0	1	0	0	0	4096	1087	38	2	945	2	CXCR2	2	219000467	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	134057714	219000467	24198906	15	12916										
TBC1D5	9779	genome.wustl.edu	37	chr3	17255822	17255822	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tctcttcctccaggcaaactCtcaacgcttggagatgaact	7	13	2	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:17255822C>A	ENST00000253692.7	-	18	3293	c.1629G>T	c.(1627-1629)gaG>gaT	p.E543D	TBC1D5_ENST00000429924.2_Missense_Mutation_p.E517D|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E543D|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E565D|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	543						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CAGGCAAACTCTCAACGCTTG	0.398																																																	0													69	71	70					3																	17255822		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1629G>T	3.37:g.17255822C>A	ENSP00000253692:p.Glu543Asp		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E543D	ENST00000253692.7	37	c.1629	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760970	0.31137	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.57595	1.28;1.28;1.0;0.39	5.96	3.06	0.35304	.	0.047167	0.85682	D	0.000000	T	0.37839	0.1018	L	0.31926	0.97	0.46222	D	0.998932	B;B;B;B	0.11235	0.004;0.002;0.002;0.002	B;B;B;B	0.14023	0.01;0.004;0.004;0.004	T	0.12889	-1.0530	10	0.27082	T	0.32	-25.4323	9.177	0.37118	0.0:0.6821:0.1179:0.1999	.	517;565;543;543	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	D	543;543;565;517	ENSP00000253692:E543D;ENSP00000398127:E543D;ENSP00000402935:E565D;ENSP00000411925:E517D	ENSP00000253692:E543D	E	-	3	2	TBC1D5	17230826	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.790000	0.26900	0.869000	0.35703	0.650000	0.86243	GAG	TBC1D5	-	NULL		0.398	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	C	NM_014744		17255822	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17255822	C	A	17255822	3	1	87	1	0	0	0	0	1	0	0	0	15653	912	32	3	778	3	TBC1D5	3	17255822	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		17255822	180766608	16	12917										
GOLGA4	2803	genome.wustl.edu	37	chr3	37369055	37369055	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tttacaacagatggatggaaGaaataaacccacagaacttt	7	7	0	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:37369055G>A	ENST00000361924.2	+	14	6052	c.5678G>A	c.(5677-5679)aGa>aAa	p.R1893K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1915K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1893	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGGATGGAAGAAATAAACCC	0.368																																																	0													73	75	74					3																	37369055		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5678G>A	3.37:g.37369055G>A	ENSP00000354486:p.Arg1893Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R1893K	ENST00000361924.2	37	c.5678	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.282098	0.01398	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22539	1.95;1.95;1.95	4.83	2.4	0.29515	.	0.739154	0.11120	N	0.597519	T	0.04543	0.0124	N	0.00413	-1.525	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37056	-0.9722	10	0.02654	T	1	.	7.8886	0.29665	0.7048:0.0:0.2952:0.0	.	1893;1893;1915;1893	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1893;1915;1764	ENSP00000354486:R1893K;ENSP00000349305:R1915K;ENSP00000405842:R1764K	ENSP00000349305:R1915K	R	+	2	0	GOLGA4	37344059	0.998000	0.40836	0.007000	0.13788	0.601000	0.36947	1.590000	0.36654	0.716000	0.32124	-0.362000	0.07510	AGA	GOLGA4	-	NULL		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37369055	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.009	A	A	37369055	G	A	37369055	3	1	87	1	0	0	0	0	1	0	0	0	6574	942	33	1	5802	1	GOLGA4	3	37369055	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	20113233	37369055	160653375	17	12918										
CPNE4	131034	genome.wustl.edu	37	chr3	131624203	131624203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	aatgcctttgcacgccacacGcagctcaactttggtcaggc	9	14	2	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:131624203G>A	ENST00000512055.1	-	6	2211	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	CPNE4_ENST00000512332.1_Missense_Mutation_p.R47C|CPNE4_ENST00000502818.1_Missense_Mutation_p.R47C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R29C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R29C			Q96A23	CPNE4_HUMAN	copine IV	29	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACGCCACACGCAGCTCAACT	0.498																																																	0													89	82	84					3																	131624203		2203	4300	6503	SO:0001583	missense	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.85C>T	3.37:g.131624203G>A	ENSP00000421705:p.Arg29Cys		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.R47C	ENST00000512055.1	37	c.139	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292997	0.60086	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.56	4.69	0.59074	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.949;0.967	T	0.66232	-0.5975	10	0.72032	D	0.01	-8.3198	8.1152	0.30940	0.0726:0.0:0.6566:0.2708	.	47;29	Q96A23-2;Q96A23	.;CPNE4_HUMAN	C	29;29;47;29;47;29;29;29	ENSP00000421705:R29C;ENSP00000411904:R29C;ENSP00000424853:R47C;ENSP00000423811:R29C;ENSP00000421646:R47C;ENSP00000425506:R29C;ENSP00000427561:R29C;ENSP00000421394:R29C	ENSP00000411904:R29C	R	-	1	0	CPNE4	133106893	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.395000	0.52558	1.352000	0.45808	-0.140000	0.14226	CGT	CPNE4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.498	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	G	NM_130808		131624203	-1	no_errors	ENST00000502818	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131624203	G	A	131624203	3	1	87	1	0	0	0	0	1	0	0	0	3819	1087	38	2	1648	2	CPNE4	3	131624203	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	94255148	131624203	66398227	18	12919										
PLD1	5337	genome.wustl.edu	37	chr3	171406541	171406541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gtgagtctgtgctcattgtcGtcccaccttccataggccag	10	13	2	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr3:171406541G>A	ENST00000351298.4	-	14	1590	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D	PLD1_ENST00000340989.4_Silent_p.D488D|PLD1_ENST00000342215.6_Silent_p.D488D|PLD1_ENST00000356327.5_Silent_p.D488D	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	488	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCTCATTGTCGTCCCACCTTC	0.517																																					NSCLC(149;2174 3517 34058)												0													131	111	118					3																	171406541		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1464C>T	3.37:g.171406541G>A				Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.D488	ENST00000351298.4	37	c.1464	CCDS3216.1	3																																																																																			PLD1	-	pirsf_PLipase_D_euk		0.517	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	G	NM_002662		171406541	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	silent	SNP	0.998	A	A	171406541	G	A	171406541	2	1	87	1	0	0	0	0	0	0	0	1	12069	1136	40	2		2	PLD1	3	171406541	Silent	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	39782338	171406541	26615889	19	12920										
TMEM129	92305	genome.wustl.edu	37	chr4	1719975	1719975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ctggcgagagctcatgctgcCgagactccgtcacagtcagg	13	13	3	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr4:1719975C>T	ENST00000382936.3	-	2	1077	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	TMEM129_ENST00000303277.2_Missense_Mutation_p.R195Q|TMEM129_ENST00000536901.1_Missense_Mutation_p.R195Q	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	195					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			CTCATGCTGCCGAGACTCCGT	0.602																																																	0													82	56	65					4																	1719975		2202	4300	6502	SO:0001583	missense	92305			BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"transmembrane protein 129"			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.584G>A	4.37:g.1719975C>T	ENSP00000372394:p.Arg195Gln		A6NH49|A6NI98|D3DVP8	Missense_Mutation	SNP	pfam_Tmpp129	p.R195Q	ENST00000382936.3	37	c.584	CCDS46998.1	4	.	.	.	.	.	.	.	.	.	.	C	4.851	0.158107	0.09236	.	.	ENSG00000168936	ENST00000303277;ENST00000382936;ENST00000536901	T;T;T	0.46451	0.87;0.87;0.87	4.56	1.71	0.24356	.	0.188839	0.42420	N	0.000701	T	0.23014	0.0556	L	0.32530	0.975	0.30424	N	0.77786	B;B	0.14012	0.001;0.009	B;B	0.06405	0.002;0.002	T	0.33317	-0.9873	10	0.02654	T	1	-16.4691	7.2248	0.26010	0.0:0.6826:0.0:0.3174	.	195;195	A0AVI4;A0AVI4-2	TM129_HUMAN;.	Q	195	ENSP00000305243:R195Q;ENSP00000372394:R195Q;ENSP00000441812:R195Q	ENSP00000305243:R195Q	R	-	2	0	TMEM129	1689773	0.833000	0.29383	0.553000	0.28255	0.024000	0.10985	1.275000	0.33144	0.314000	0.23086	-0.224000	0.12420	CGG	TMEM129	-	pfam_Tmpp129		0.602	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM129	HGNC	protein_coding	OTTHUMT00000350724.1	C	NM_138385		1719975	-1	no_errors	ENST00000382936	ensembl	human	known	70_37	missense	SNP	0.528	T	T	1719975	C	T	1719975	3	4	87	1	0	0	0	0	1	0	0	0	16072	652	23	2	516	2	TMEM129	4	1719975	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		1719975	189434301	20	12921										
SLC6A3	6531	genome.wustl.edu	37	chr5	1409228	1409228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	atggtccaggagcgtgaagaCgtagatgccaccctggaaga	14	9	0	4	rs75916702		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr5:1409228C>T	ENST00000270349.9	-	11	1538	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V471I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	471			V -> I (in dbSNP:rs75916702). {ECO:0000269|PubMed:21179162}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGTGAAGACGTAGATGCCA	0.572																																																	0													55	48	51					5																	1409228		2201	4295	6496	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1411G>A	5.37:g.1409228C>T	ENSP00000270349:p.Val471Ile		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.V471I	ENST00000270349.9	37	c.1411	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850331	0.51270	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74315	-0.83;-0.83	3.65	3.65	0.41850	.	0.132318	0.49916	N	0.000126	T	0.75332	0.3835	L	0.46157	1.445	0.47547	D	0.999454	D	0.56287	0.975	P	0.52424	0.698	T	0.78740	-0.2086	10	0.66056	D	0.02	.	13.2113	0.59825	0.0:1.0:0.0:0.0	.	471	Q01959	SC6A3_HUMAN	I	471	ENSP00000270349:V471I;ENSP00000399806:V471I	ENSP00000270349:V471I	V	-	1	0	SLC6A3	1462228	0.998000	0.40836	0.989000	0.46669	0.664000	0.39144	3.355000	0.52262	2.042000	0.60477	0.555000	0.69702	GTC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.572	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	C	NM_001044		1409228	-1	no_errors	ENST00000270349	ensembl	human	known	70_37	missense	SNP	0.999	T	T	1409228	C	T	1409228	3	4	87	1	0	0	0	0	1	0	0	0	14715	536	19	2	471	2	SLC6A3	5	1409228	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		1409228	179506032	21	12922										
TSSK1B	83942	genome.wustl.edu	37	chr5	112770223	112770223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cgtcctcatgcagggctcccCgggttttgattaactcgagg	12	12	1	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr5:112770223C>T	ENST00000390666.3	-	1	505	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CAGGGCTCCCCGGGTTTTGAT	0.552																																																	0													63	67	66					5																	112770223		2199	4299	6498	SO:0001583	missense	83942			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.314G>A	5.37:g.112770223C>T	ENSP00000375081:p.Arg105Gln		B2R8D9	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R105Q	ENST00000390666.3	37	c.314	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	C	9.692	1.152033	0.21371	.	.	ENSG00000212122	ENST00000390666	T	0.65178	-0.14	1.24	1.24	0.21308	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32578	U	0.005913	T	0.41119	0.1145	L	0.28274	0.84	0.09310	N	1	B	0.21520	0.057	B	0.18561	0.022	T	0.24404	-1.0161	10	0.51188	T	0.08	.	3.6305	0.08130	0.0:0.7219:0.0:0.2781	.	105	Q9BXA7	TSSK1_HUMAN	Q	105	ENSP00000375081:R105Q	ENSP00000375081:R105Q	R	-	2	0	TSSK1B	112798122	0.000000	0.05858	0.992000	0.48379	0.910000	0.53928	-0.248000	0.08854	0.635000	0.30488	0.313000	0.20887	CGG	TSSK1B	-	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		0.552	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	C	NM_032028		112770223	-1	no_errors	ENST00000390666	ensembl	human	known	70_37	missense	SNP	0.177	T	T	112770223	C	T	112770223	3	4	87	1	0	0	0	0	1	0	0	0	16699	652	23	2	793	2	TSSK1B	5	112770223	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	111360995	112770223	68145037	22	12923										
ADRB2	154	genome.wustl.edu	37	chr5	148206530	148206530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tcatgtctctcatcgtcctgGccatcgtgtttggcaatgtg	10	11	3	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr5:148206530G>A	ENST00000305988.4	+	1	375	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	46					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CATCGTCCTGGCCATCGTGTT	0.582																																																	0													188	170	176					5																	148206530		2203	4300	6503	SO:0001583	missense	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.136G>A	5.37:g.148206530G>A	ENSP00000305372:p.Ala46Thr		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.A46T	ENST00000305988.4	37	c.136	CCDS4292.1	5	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468427	0.43839	.	.	ENSG00000169252	ENST00000305988	T	0.19806	2.12	5.4	5.4	0.78164	.	0.335334	0.30840	N	0.008762	T	0.18002	0.0432	L	0.27053	0.805	0.43133	D	0.994876	B	0.17038	0.02	B	0.08055	0.003	T	0.04268	-1.0964	10	0.27785	T	0.31	.	19.3757	0.94508	0.0:0.0:1.0:0.0	.	46	P07550	ADRB2_HUMAN	T	46	ENSP00000305372:A46T	ENSP00000305372:A46T	A	+	1	0	ADRB2	148186723	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	1.894000	0.39768	2.814000	0.96858	0.655000	0.94253	GCC	ADRB2	-	prints_GPCR_Rhodpsn		0.582	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	G	NM_000024		148206530	1	no_errors	ENST00000305988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148206530	G	A	148206530	3	1	87	1	0	0	0	0	1	0	0	0	341	1203	42	4	138	4	ADRB2	5	148206530	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	35436307	148206530	32708730	23	12924										
KAAG1	353219	genome.wustl.edu	37	chr6	24358086	24358086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ggatcgcctcctgaaacgaaCgagaaactgacgaatccaca	9	12	0	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:24358086C>T	ENST00000274766.1	+	1	956	c.219C>T	c.(217-219)aaC>aaT	p.N73N	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	73					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CTGAAACGAACGAGAAACTGA	0.652																																																	0													24	28	27					6																	24358086		2157	4229	6386	SO:0001819	synonymous_variant	353219			AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.219C>T	6.37:g.24358086C>T				Silent	SNP	NULL	p.N73	ENST00000274766.1	37	c.219	CCDS4551.1	6																																																																																			KAAG1	-	NULL		0.652	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAAG1	HGNC	protein_coding	OTTHUMT00000040001.1	C			24358086	1	no_errors	ENST00000274766	ensembl	human	known	70_37	silent	SNP	0.000	T	T	24358086	C	T	24358086	2	4	87	1	0	0	0	0	0	0	0	1	7993	535	19	2		2	KAAG1	6	24358086	Silent	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		24358086	146756981	24	12925										
COQ3	51805	genome.wustl.edu	37	chr6	99828199	99828200	+	Frame_Shift_Ins	INS	-	-	A													0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tggtttgggaagtactgtacINSagtctcgcccaagggtacct							TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:99828199_99828200insA	ENST00000254759.3	-	3	275_276	c.251_252insT	c.(250-252)ctgfs	p.L84fs	COQ3_ENST00000369242.1_5'UTR|COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369240.1_5'Flank	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	84					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAGTACTGTACAGTCTCGCCCA	0.431																																																	0																																										SO:0001589	frameshift_variant	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.252dupT	6.37:g.99828200_99828200dupA	ENSP00000254759:p.Leu84fs		B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Frame_Shift_Ins	INS	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.Y85fs	ENST00000254759.3	37	c.252_251	CCDS5042.1	6																																																																																			COQ3	-	NULL		0.431	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	-	NM_017421		99828200	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A	A	99828200	-	A	99828199	7	5	87	1	0	1	1	0	0	0	0	0	3751	465	17	0	877	0	COQ3	6	99828199	Frame_Shift_Ins	INS	-	TCGA-EA-A5O9-01A-11D-A28B-09	75470113	99828199	71286868	25	12926										
PARK2	5071	genome.wustl.edu	37	chr6	162683699	162683699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cgctcacagcctcccgccgcGtttctggggtcgtcgcctcc	11	19	2	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:162683699G>A	ENST00000366898.1	-	3	372	c.270C>T	c.(268-270)aaC>aaT	p.N90N	PARK2_ENST00000366892.1_Silent_p.N90N|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366897.1_Silent_p.N90N|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_De_novo_Start_InFrame	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	90					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCCCGCCGCGTTTCTGGGGT	0.577																																																	0													88	86	87					6																	162683699		2203	4300	6503	SO:0001819	synonymous_variant	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.270C>T	6.37:g.162683699G>A			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr	p.N90	ENST00000366898.1	37	c.270	CCDS5281.1	6																																																																																			PARK2	-	pirsf_Parkin		0.577	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	G			162683699	-1	no_errors	ENST00000366898	ensembl	human	known	70_37	silent	SNP	0.000	A	A	162683699	G	A	162683699	2	1	87	1	0	0	0	0	0	0	0	1	11473	1136	40	2		2	PARK2	6	162683699	Silent	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	62855500	162683699	8431368	26	12927										
RPS6KA2	6196	genome.wustl.edu	37	chr6	166872944	166872944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ctgtggcacacacctgtgggCgtccgcgctgtgaactcggg	15	13	0	1	rs376127612		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr6:166872944C>T	ENST00000265678.4	-	12	1291	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	RPS6KA2_ENST00000503859.1_Silent_p.T364T|RPS6KA2-IT1_ENST00000416770.1_RNA|RPS6KA2_ENST00000481261.2_Silent_p.T267T|RPS6KA2_ENST00000405189.3_Silent_p.T267T|RPS6KA2_ENST00000510118.1_Silent_p.T381T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	356	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACCTGTGGGCGTCCGCGCTG	0.557																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	125	99	108		1092,1068	-10	0.8	6		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	364/742,356/734	166872944	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1068G>A	6.37:g.166872944C>T			B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T381	ENST00000265678.4	37	c.1143	CCDS5294.1	6																																																																																			RPS6KA2	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II		0.557	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	C	NM_021135		166872944	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	silent	SNP	0.999	T	T	166872944	C	T	166872944	2	4	87	1	0	0	0	0	0	0	0	1	13681	755	27	2		2	RPS6KA2	6	166872944	Silent	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	4189245	166872944	4242123	27	12928										
SEMA3A	10371	genome.wustl.edu	37	chr7	83640560	83640560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	actgagcaaatcagacgagcTttgaggaatgttgtccattt	10	7	1	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:83640560T>C	ENST00000265362.4	-	8	1178	c.864A>G	c.(862-864)aaA>aaG	p.K288K	SEMA3A_ENST00000436949.1_Silent_p.K288K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	288	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCAGACGAGCTTTGAGGAATG	0.398																																																	0													131	120	123					7																	83640560		2203	4300	6503	SO:0001819	synonymous_variant	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.864A>G	7.37:g.83640560T>C				Silent	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.K288	ENST00000265362.4	37	c.864	CCDS5599.1	7																																																																																			SEMA3A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.398	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	T	NM_006080		83640560	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	silent	SNP	1.000	C	C	83640560	T	C	83640560	2	2	87	1	0	0	0	0	0	0	0	1	14054	1606	56	5		5	SEMA3A	7	83640560	Silent	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09		83640560	75498103	28	12929										
TRRAP	8295	genome.wustl.edu	37	chr7	98563429	98563429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ccatcctgacatccctcatcGaaaaatcaccagatgccaaa	4	15	2	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:98563429G>A	ENST00000359863.4	+	48	7275	c.7066G>A	c.(7066-7068)Gaa>Aaa	p.E2356K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E2338K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E2338K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2356	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCCTCATCGAAAAATCACC	0.532																																																	0													103	90	94					7																	98563429		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7066G>A	7.37:g.98563429G>A	ENSP00000352925:p.Glu2356Lys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2356K	ENST00000359863.4	37	c.7066	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.695534	0.96802	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64618	-0.11;-0.11	6.02	6.02	0.97574	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.78456	2.415	0.80722	D	1	D;D;D	0.67145	0.996;0.981;0.993	P;P;P	0.53760	0.734;0.45;0.652	T	0.77890	-0.2419	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2338;2077;2356	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	2356;2338;2337	ENSP00000352925:E2356K;ENSP00000347733:E2338K	ENSP00000347733:E2338K	E	+	1	0	TRRAP	98401365	1.000000	0.71417	0.668000	0.29813	0.889000	0.51656	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	GAA	TRRAP	-	superfamily_ARM-type_fold		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98563429	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98563429	G	A	98563429	3	1	87	1	0	0	0	0	1	0	0	0	16632	1059	37	1	7194	1	TRRAP	7	98563429	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	14922869	98563429	60575234	29	12930										
SND1	27044	genome.wustl.edu	37	chr7	127725826	127725826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	catgtcttctacattgactaCggcaacgtgagtgttgggga	12	8	2	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:127725826C>T	ENST00000354725.3	+	20	2492	c.2298C>T	c.(2296-2298)taC>taT	p.Y766Y		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	766	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.Y766Y(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACATTGACTACGGCAACGTGA	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											151	133	139					7																	127725826		2203	4300	6503	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2298C>T	7.37:g.127725826C>T			Q13122|Q96AG0	Silent	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.Y766	ENST00000354725.3	37	c.2298	CCDS34747.1	7																																																																																			SND1	-	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor		0.527	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127725826	1	no_errors	ENST00000354725	ensembl	human	known	70_37	silent	SNP	0.986	T	T	127725826	C	T	127725826	2	4	87	1	0	0	0	0	0	0	0	1	14874	547	19	2		2	SND1	7	127725826	Silent	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	29162397	127725826	31412837	30	12931										
ZNF786	136051	genome.wustl.edu	37	chr7	148768956	148768956	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tgtccactgggagggagcgcTtgccgcatggggtgcactgg	18	10	0	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr7:148768956T>A	ENST00000491431.1	-	4	972	c.908A>T	c.(907-909)aAg>aTg	p.K303M	ZNF786_ENST00000451334.3_Missense_Mutation_p.K266M|ZNF786_ENST00000316286.9_Missense_Mutation_p.K217M	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GAGGGAGCGCTTGCCGCATGG	0.697																																																	0													15	18	17					7																	148768956		2080	4176	6256	SO:0001583	missense	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.908A>T	7.37:g.148768956T>A	ENSP00000417470:p.Lys303Met		A1A568|B4DMI1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K303M	ENST00000491431.1	37	c.908	CCDS47738.1	7	.	.	.	.	.	.	.	.	.	.	T	9.052	0.992389	0.18966	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.08546	3.08;3.22;3.14	3.9	-7.59	0.01308	.	3.677690	0.01173	N	0.006913	T	0.13927	0.0337	M	0.91972	3.26	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.34700	-0.9818	10	0.72032	D	0.01	-0.1788	2.0897	0.03654	0.1003:0.2314:0.2456:0.4227	.	303	Q8N393	ZN786_HUMAN	M	217;217;303;266	ENSP00000313516:K217M;ENSP00000417470:K303M;ENSP00000404984:K266M	ENSP00000313516:K217M	K	-	2	0	ZNF786	148399889	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.508000	0.00506	-3.121000	0.00061	AAG	ZNF786	-	NULL		0.697	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	T	NM_152411		148768956	-1	no_errors	ENST00000491431	ensembl	human	known	70_37	missense	SNP	0.000	A	A	148768956	T	A	148768956	3	1	87	1	0	0	0	0	1	0	0	0	18188	1609	56	5	1444	5	ZNF786	7	148768956	Missense_Mutation	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09	21043130	148768956	10369707	31	12932										
CNTLN	54875	genome.wustl.edu	37	chr9	17236576	17236576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	agaaaaatatagcactgatgCaaaaataaaggtatacaata	6	4	0	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr9:17236576C>T	ENST00000380647.3	+	5	923	c.839C>T	c.(838-840)gCa>gTa	p.A280V	CNTLN_ENST00000425824.1_Missense_Mutation_p.A280V|CNTLN_ENST00000262360.5_Missense_Mutation_p.A280V|CNTLN_ENST00000380641.4_Missense_Mutation_p.A280V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	280					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCACTGATGCAAAAATAAAG	0.333																																																	0													83	82	82					9																	17236576		1827	4082	5909	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.839C>T	9.37:g.17236576C>T	ENSP00000370021:p.Ala280Val		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.A280V	ENST00000380647.3	37	c.839	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874061	0.17395	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.64	3.47	0.39725	.	.	.	.	.	T	0.08980	0.0222	L	0.51422	1.61	0.20703	N	0.999868	B;B;P	0.38078	0.386;0.386;0.617	B;B;B	0.33960	0.085;0.085;0.173	T	0.17592	-1.0364	9	0.34782	T	0.22	.	4.7614	0.13110	0.187:0.516:0.2195:0.0774	.	280;280;280	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	V	280	ENSP00000370021:A280V;ENSP00000392798:A280V;ENSP00000262360:A280V;ENSP00000370015:A280V	ENSP00000262360:A280V	A	+	2	0	CNTLN	17226576	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	1.117000	0.31234	2.653000	0.90120	0.591000	0.81541	GCA	CNTLN	-	NULL		0.333	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	C	NM_017738		17236576	1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.932	T	T	17236576	C	T	17236576	3	4	87	1	0	0	0	0	1	0	0	0	3644	710	25	4	857	4	CNTLN	9	17236576	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		17236576	123976855	32	12933										
LRIT1	26103	genome.wustl.edu	37	chr10	85997188	85997188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gcttgggggcgtccctgagcGccgcccaggggaaggcggcc	19	14	0	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr10:85997188G>A	ENST00000372105.3	-	2	398	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	126						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCCTGAGCGCCGCCCAGGG	0.736																																																	0																																										SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.377C>T	10.37:g.85997188G>A	ENSP00000361177:p.Ala126Val		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A126V	ENST00000372105.3	37	c.377	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.153459	0.94645	.	.	ENSG00000148602	ENST00000372105	T	0.59083	0.29	4.93	4.03	0.46877	.	0.362035	0.29273	N	0.012622	T	0.48995	0.1531	N	0.13235	0.315	0.40137	D	0.976785	P	0.52061	0.95	P	0.51999	0.687	T	0.53472	-0.8434	10	0.52906	T	0.07	.	10.4218	0.44354	0.0919:0.0:0.9081:0.0	.	126	Q9P2V4	LRIT1_HUMAN	V	126	ENSP00000361177:A126V	ENSP00000361177:A126V	A	-	2	0	LRIT1	85987168	0.870000	0.30015	0.619000	0.29118	0.907000	0.53573	4.134000	0.57990	1.298000	0.44778	0.655000	0.94253	GCG	LRIT1	-	smart_Leu-rich_rpt_typical-subtyp		0.736	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	G	NM_015613		85997188	-1	no_errors	ENST00000372105	ensembl	human	known	70_37	missense	SNP	0.990	A	A	85997188	G	A	85997188	3	1	87	1	0	0	0	0	1	0	0	0	8970	1087	38	2	1506	2	LRIT1	10	85997188	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09		85997188	49537559	33	12934										
PKD2L1	9033	genome.wustl.edu	37	chr10	102089003	102089003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ccaggaacacaatatataccAacagctccctcagggtggtc	8	13	1	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr10:102089003A>G	ENST00000318222.3	-	2	696	c.314T>C	c.(313-315)tTg>tCg	p.L105S	PKD2L1_ENST00000338519.3_Missense_Mutation_p.L105S|PKD2L1_ENST00000353274.3_Missense_Mutation_p.L105S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	105					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AATATATACCAACAGCTCCCT	0.463																																																	0													163	139	147					10																	102089003		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.314T>C	10.37:g.102089003A>G	ENSP00000325296:p.Leu105Ser		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.L105S	ENST00000318222.3	37	c.314	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257728	0.59321	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.63417	0.09;-0.04;0.01	5.15	5.15	0.70609	.	0.272984	0.29799	N	0.011179	T	0.54902	0.1887	L	0.52126	1.63	0.33933	D	0.642239	P;B	0.48089	0.905;0.157	B;B	0.39935	0.314;0.103	T	0.69202	-0.5207	10	0.39692	T	0.17	-5.8459	12.9605	0.58455	1.0:0.0:0.0:0.0	.	58;105	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	S	105	ENSP00000345068:L105S;ENSP00000266049:L105S;ENSP00000325296:L105S	ENSP00000325296:L105S	L	-	2	0	PKD2L1	102078993	1.000000	0.71417	0.304000	0.25085	0.375000	0.29983	7.763000	0.85283	1.952000	0.56665	0.459000	0.35465	TTG	PKD2L1	-	prints_PKD_1		0.463	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	A	NM_016112		102089003	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	missense	SNP	0.985	G	G	102089003	A	G	102089003	3	3	87	1	0	0	0	0	1	0	0	0	11991	131	5	5	2163	5	PKD2L1	10	102089003	Missense_Mutation	SNP	A	TCGA-EA-A5O9-01A-11D-A28B-09	16091815	102089003	33445744	34	12935										
RHOD	29984	genome.wustl.edu	37	chr11	66838981	66838981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ggctccatgacaacgtccacGccgtcttccaggaggccgcc	11	17	1	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr11:66838981G>A	ENST00000308831.2	+	5	626	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	RHOD_ENST00000532559.1_Missense_Mutation_p.A115T	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	181					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CAACGTCCACGCCGTCTTCCA	0.687																																																	0													29	29	29					11																	66838981		2200	4293	6493	SO:0001583	missense	29984			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.541G>A	11.37:g.66838981G>A	ENSP00000308576:p.Ala181Thr			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A181T	ENST00000308831.2	37	c.541	CCDS8155.1	11	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154776	0.38021	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.69806	-0.43;-0.43	4.27	1.06	0.20224	.	0.542263	0.15541	N	0.256967	T	0.36853	0.0982	N	0.12853	0.265	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.16012	-1.0417	10	0.08179	T	0.78	-21.9581	3.264	0.06859	0.2268:0.0:0.5535:0.2197	.	181	O00212	RHOD_HUMAN	T	181;115	ENSP00000308576:A181T;ENSP00000432003:A115T	ENSP00000308576:A181T	A	+	1	0	RHOD	66595557	0.006000	0.16342	0.137000	0.22149	0.801000	0.45260	1.176000	0.31957	0.462000	0.27095	0.561000	0.74099	GCC	RHOD	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase		0.687	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1	G	NM_014578		66838981	1	no_errors	ENST00000308831	ensembl	human	known	70_37	missense	SNP	0.012	A	A	66838981	G	A	66838981	3	1	87	1	0	0	0	0	1	0	0	0	13367	1087	38	2	559	2	RHOD	11	66838981	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09		66838981	68167535	35	12936										
KDM2A	22992	genome.wustl.edu	37	chr11	67021785	67021785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ccacatgcccctcctgtctcGactcgacctcagtcactgca	6	19	3	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr11:67021785G>A	ENST00000529006.2	+	20	3649	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R526Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R629Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1068					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTCCTGTCTCGACTCGACCTC	0.562																																																	0													152	149	150					11																	67021785		2189	4279	6468	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3203G>A	11.37:g.67021785G>A	ENSP00000432786:p.Arg1068Gln		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R1068Q	ENST00000529006.2	37	c.3203	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845110	0.71603	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.42513	0.97;0.97;0.97	5.17	5.17	0.71159	.	0.133906	0.51477	D	0.000091	T	0.43233	0.1238	L	0.54323	1.7	0.39382	D	0.966266	B;B;D	0.57899	0.285;0.342;0.981	B;B;P	0.47603	0.049;0.027;0.551	T	0.29941	-0.9995	10	0.30078	T	0.28	-5.5268	12.2075	0.54361	0.0776:0.0:0.9224:0.0	.	629;526;1068	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	Q	1068;629;526	ENSP00000432786:R1068Q;ENSP00000435776:R629Q;ENSP00000309302:R526Q	ENSP00000309302:R526Q	R	+	2	0	KDM2A	66778361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.065000	0.64344	2.674000	0.91012	0.655000	0.94253	CGA	KDM2A	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.562	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		67021785	1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67021785	G	A	67021785	3	1	87	1	0	0	0	0	1	0	0	0	8144	1058	37	1	3277	1	KDM2A	11	67021785	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	182804	67021785	67984731	36	12937										
SLCO1B1	10599	genome.wustl.edu	37	chr12	21355441	21355441	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ctaggagtcataaccataccTatttttgcaagtggaatgtt	8	7	1	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr12:21355441T>G	ENST00000256958.2	+	10	1248	c.1152T>G	c.(1150-1152)ccT>ccG	p.P384P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	384					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAACCATACCTATTTTTGCAA	0.294																																																	0													44	45	45					12																	21355441		2203	4297	6500	SO:0001819	synonymous_variant	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1152T>G	12.37:g.21355441T>G			B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P384	ENST00000256958.2	37	c.1152	CCDS8685.1	12																																																																																			SLCO1B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.294	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	T	NM_006446		21355441	1	no_errors	ENST00000256958	ensembl	human	known	70_37	silent	SNP	0.089	G	G	21355441	T	G	21355441	2	3	87	1	0	0	0	0	0	0	0	1	14753	1509	53	5		5	SLCO1B1	12	21355441	Silent	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09		21355441	112496454	37	12938										
SLC39A5	283375	genome.wustl.edu	37	chr12	56629106	56629106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tgcactgctacatctgctacCgcatgtatgtgaagcccctt	8	13	1	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr12:56629106C>T	ENST00000266980.4	+	5	1093	c.800C>T	c.(799-801)cCg>cTg	p.P267L	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.P267L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	267					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCTGCTACCGCATGTATGT	0.607																																																	0													135	117	123					12																	56629106		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.800C>T	12.37:g.56629106C>T	ENSP00000266980:p.Pro267Leu		B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.P267L	ENST00000266980.4	37	c.800	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392088	0.83011	.	.	ENSG00000139540	ENST00000454355;ENST00000436633;ENST00000266980	T;D;T	0.93953	-0.05;-3.32;-0.05	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000011	D	0.97788	0.9274	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99113	1.0847	10	0.87932	D	0	-16.8209	16.703	0.85364	0.0:1.0:0.0:0.0	.	267;158	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	L	267;238;267	ENSP00000405360:P267L;ENSP00000391711:P238L;ENSP00000266980:P267L	ENSP00000266980:P267L	P	+	2	0	SLC39A5	54915373	1.000000	0.71417	0.979000	0.43373	0.594000	0.36715	5.207000	0.65197	2.420000	0.82092	0.561000	0.74099	CCG	SLC39A5	-	pfam_ZIP		0.607	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56629106	1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56629106	C	T	56629106	3	4	87	1	0	0	0	0	1	0	0	0	14651	652	23	2	814	2	SLC39A5	12	56629106	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	35273665	56629106	77222789	38	12939										
GAS6	2621	genome.wustl.edu	37	chr13	114537555	114537555	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ccatgtcctgggacagcttgAggcccccacgcccgtcacag	11	17	1	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr13:114537555A>T	ENST00000327773.6	-	8	949	c.803T>A	c.(802-804)cTc>cAc	p.L268H	GAS6_ENST00000357389.3_Missense_Mutation_p.L268H|GAS6_ENST00000418959.3_5'Flank|GAS6_ENST00000355761.4_Missense_Mutation_p.L214H|GAS6_ENST00000450766.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	268	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGACAGCTTGAGGCCCCCACG	0.697																																																	0													31	27	28					13																	114537555		2175	4278	6453	SO:0001583	missense	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.803T>A	13.37:g.114537555A>T	ENSP00000331831:p.Leu268His		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.L268H	ENST00000327773.6	37	c.803	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352771	0.61293	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.90955	-2.76;-2.29;-2.29	4.59	4.59	0.56863	.	.	.	.	.	D	0.90930	0.7149	L	0.28649	0.875	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	D	0.91099	0.4913	9	0.46703	T	0.11	-23.561	13.965	0.64202	1.0:0.0:0.0:0.0	.	268	Q14393-2	.	H	268;214;268	ENSP00000349962:L268H;ENSP00000348003:L214H;ENSP00000331831:L268H	ENSP00000331831:L268H	L	-	2	0	GAS6	113576388	0.992000	0.36948	1.000000	0.80357	0.438000	0.31896	2.959000	0.49153	1.696000	0.51158	0.374000	0.22700	CTC	GAS6	-	superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.697	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	A	NM_000820		114537555	-1	no_errors	ENST00000357389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114537555	A	T	114537555	3	4	87	1	0	0	0	0	1	0	0	0	6268	304	11	5	1265	5	GAS6	13	114537555	Missense_Mutation	SNP	A	TCGA-EA-A5O9-01A-11D-A28B-09		114537555	632323	39	12940										
GOLGA8A	23015	genome.wustl.edu	37	chr15	34673973	34673973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tgggttcagcagcagggttcCgggcagcggccaggaatttg	17	9	1	0	rs347879	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:34673973C>T	ENST00000359187.4	-	15	1602	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	GOLGA8A_ENST00000543376.1_Missense_Mutation_p.R370Q|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.R543Q|MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.R513Q	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	541						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGCAGGGTTCCGGGCAGCGGC	0.672													c|||	2007	0.400759	0.1293	0.4568	5008	,	,		9978	0.5377		0.4632	False		,,,				2504	0.5225																0													1	1	1					15																	34673973		900	1865	2765	SO:0001583	missense	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1538G>A	15.37:g.34673973C>T	ENSP00000352111:p.Arg513Gln		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.R543Q	ENST00000359187.4	37	c.1628	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.435595	0.01108	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.01835	0.0058	N	0.00038	-2.52	0.58432	P	9.000000000036756E-6	B;B	0.17852	0.014;0.024	B;B	0.09377	0.002;0.004	T	0.41574	-0.9501	8	0.02654	T	1	.	4.0142	0.09636	0.0:0.2771:0.0:0.7229	.	513;541	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	Q	513;513;543;370	ENSP00000352111:R513Q;ENSP00000353755:R513Q;ENSP00000402791:R543Q;ENSP00000438613:R370Q	ENSP00000352111:R513Q	R	-	2	0	GOLGA8A	32461265	0.615000	0.27026	0.267000	0.24556	0.124000	0.20399	0.636000	0.24644	-0.402000	0.07633	-0.745000	0.03516	CGG	GOLGA8A	-	NULL		0.672	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	C	NM_181076		34673973	-1	no_errors	ENST00000432566	ensembl	human	known	70_37	missense	SNP	0.998	T	T	34673973	C	T	34673973	3	4	87	1	0	0	0	0	1	0	0	0	6582	652	23	2	281	2	GOLGA8A	15	34673973	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		34673973	67857419	40	12941			1	53		2	2	34	C		6.395817e-05
GOLGA8A	23015	genome.wustl.edu	37	chr15	34674006	34674006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ggaatttgccgtgcccctcgCtgtagctgccacaagccgca	11	15	0	0	rs238639	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:34674006C>T	ENST00000359187.4	-	15	1569	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	GOLGA8A_ENST00000543376.1_Missense_Mutation_p.S359N|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.S532N|MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.S502N	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	530						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTGCCCCTCGCTGTAGCTGCC	0.677																																																	0													1	1	1					15																	34674006		324	759	1083	SO:0001583	missense	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1505G>A	15.37:g.34674006C>T	ENSP00000352111:p.Ser502Asn		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.S532N	ENST00000359187.4	37	c.1595	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.496816	0.00159	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.02455	0.0075	N	0.00197	-1.87	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.42137	-0.9469	8	0.02654	T	1	.	4.1473	0.10222	0.0:0.2623:0.0:0.7377	.	502;530	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	N	502;502;532;359	ENSP00000352111:S502N;ENSP00000353755:S502N;ENSP00000402791:S532N;ENSP00000438613:S359N	ENSP00000352111:S502N	S	-	2	0	GOLGA8A	32461298	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.565000	0.36386	-0.443000	0.07180	-0.982000	0.02568	AGC	GOLGA8A	-	NULL		0.677	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	C	NM_181076		34674006	-1	no_errors	ENST00000432566	ensembl	human	known	70_37	missense	SNP	0.185	T	T	34674006	C	T	34674006	3	4	87	1	0	0	0	0	1	0	0	0	6582	797	28	4	314	4	GOLGA8A	15	34674006	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	33	34674006	67857386	41	12942			1	53		2	2	34	C		6.395817e-05
SH2D7	646892	genome.wustl.edu	37	chr15	78386459	78386459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	atgtcttctgcccaggcagaCggagcagctactcagggaca	12	12	3	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr15:78386459C>T	ENST00000328828.5	+	2	182	c.182C>T	c.(181-183)aCg>aTg	p.T61M	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	61	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(2)|kidney(2)|lung(3)	7						CCCAGGCAGACGGAGCAGCTA	0.577																																																	0													55	60	58					15																	78386459		2059	4200	6259	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.182C>T	15.37:g.78386459C>T	ENSP00000327846:p.Thr61Met			Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.T61M	ENST00000328828.5	37	c.182	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280655	0.80692	.	.	ENSG00000183476	ENST00000328828	T	0.42900	0.96	5.57	5.57	0.84162	SH2 motif (5);	.	.	.	.	T	0.60470	0.2271	L	0.52905	1.665	0.31585	N	0.654648	D	0.89917	1.0	D	0.77557	0.99	T	0.65455	-0.6164	9	0.87932	D	0	.	15.0448	0.71819	0.0:1.0:0.0:0.0	.	61	A6NKC9	SH2D7_HUMAN	M	61	ENSP00000327846:T61M	ENSP00000327846:T61M	T	+	2	0	SH2D7	76173514	0.972000	0.33761	0.999000	0.59377	0.992000	0.81027	2.994000	0.49433	2.617000	0.88574	0.555000	0.69702	ACG	SH2D7	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.577	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	C	NM_001101404		78386459	1	no_errors	ENST00000328828	ensembl	human	novel	70_37	missense	SNP	0.998	T	T	78386459	C	T	78386459	3	4	87	1	0	0	0	0	1	0	0	0	14269	536	19	2	188	2	SH2D7	15	78386459	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	43712453	78386459	24144933	42	12943										
ZNF48	197407	genome.wustl.edu	37	chr16	30409621	30409621	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tccgcccgagtcaaacacctCcgcacccacagtggcgagag	10	17	1	1	rs370017247		TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:30409621C>G	ENST00000320159.2	+	2	1426	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TCAAACACCTCCGCACCCACA	0.647																																																	0													98	71	80					16																	30409621		2197	4300	6497	SO:0001819	synonymous_variant	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1050C>G	16.37:g.30409621C>G			Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L350	ENST00000320159.2	37	c.1050	CCDS10679.1	16																																																																																			ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409621	1	no_errors	ENST00000320159	ensembl	human	known	70_37	silent	SNP	0.975	G	G	30409621	C	G	30409621	2	3	87	1	0	0	0	0	0	0	0	1	17964	842	30	1		1	ZNF48	16	30409621	Silent	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		30409621	59945132	43	12944										
ESRP2	80004	genome.wustl.edu	37	chr16	68265731	68265731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cacttcggctgcagtgctccGgaagagttcaatgtatcgct	11	11	1	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:68265731G>A	ENST00000565858.1	-	10	1389	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	ESRP2_ENST00000473183.2_Missense_Mutation_p.R425W|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	435	RRM 2.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCAGTGCTCCGGAAGAGTTCA	0.617																																																	0													49	47	48					16																	68265731		2198	4300	6498	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1303C>T	16.37:g.68265731G>A	ENSP00000454554:p.Arg435Trp		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.R435W	ENST00000565858.1	37	c.1303		16	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548824	0.65311	.	.	ENSG00000103067	ENST00000473183	T	0.28666	1.6	5.84	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.74466	-0.3656	10	0.87932	D	0	-23.2915	13.9976	0.64411	0.0:0.0:0.4206:0.5794	.	435;425	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	425	ENSP00000418748:R425W	ENSP00000418748:R425W	R	-	1	2	ESRP2	66823232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.807000	0.47955	0.746000	0.32786	0.561000	0.74099	CGG	ESRP2	-	NULL		0.617	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	G	NM_024939		68265731	-1	no_errors	ENST00000565858	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68265731	G	A	68265731	3	1	87	1	0	0	0	0	1	0	0	0	5271	1115	39	2	904	2	ESRP2	16	68265731	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	37856110	68265731	22089022	44	12945										
IRF8	3394	genome.wustl.edu	37	chr16	85952378	85952378	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ctggagcgtgatgaggtggtCcaggtcttcgacaccagcca	14	11	1	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr16:85952378C>A	ENST00000268638.5	+	7	1379	c.957C>A	c.(955-957)gtC>gtA	p.V319V	IRF8_ENST00000562492.1_Silent_p.V115V	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	319					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ATGAGGTGGTCCAGGTCTTCG	0.607																																																	0													39	41	41					16																	85952378		2198	4300	6498	SO:0001819	synonymous_variant	3394			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.957C>A	16.37:g.85952378C>A			A0AV82	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.V319	ENST00000268638.5	37	c.957	CCDS10956.1	16																																																																																			IRF8	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.607	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF8	HGNC	protein_coding	OTTHUMT00000269100.2	C	NM_002163		85952378	1	no_errors	ENST00000268638	ensembl	human	known	70_37	silent	SNP	1.000	A	A	85952378	C	A	85952378	2	1	87	1	0	0	0	0	0	0	0	1	7856	842	30	3		3	IRF8	16	85952378	Silent	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	17686647	85952378	4402375	45	12946										
TRPV2	51393	genome.wustl.edu	37	chr17	16335395	16335395	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gagggcaacggggcccagtaCaggggtatcctggaagcctc	16	11	0	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr17:16335395C>A	ENST00000338560.7	+	12	2169	c.1770C>A	c.(1768-1770)taC>taA	p.Y590*	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Nonsense_Mutation_p.Y160*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	590					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGGCCCAGTACAGGGGTATCC	0.642																																																	0													70	71	70					17																	16335395		2203	4300	6503	SO:0001587	stop_gained	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1770C>A	17.37:g.16335395C>A	ENSP00000342222:p.Tyr590*		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.Y590*	ENST00000338560.7	37	c.1770	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.780720	0.99261	.	.	ENSG00000187688	ENST00000338560	.	.	.	4.81	-2.07	0.07276	.	0.238301	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7683	11.3049	0.49329	0.0:0.3603:0.0:0.6397	.	.	.	.	X	590	.	ENSP00000342222:Y590X	Y	+	3	2	TRPV2	16276120	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.632000	0.05489	-0.387000	0.07809	-0.480000	0.04831	TAC	TRPV2	-	tigrfam_TRP_channel		0.642	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	C	NM_016113		16335395	1	no_errors	ENST00000338560	ensembl	human	known	70_37	nonsense	SNP	0.011	A	A	16335395	C	A	16335395	4	1	87	1	0	0	0	0	0	1	0	0	16627	489	17	4	1812	4	TRPV2	17	16335395	Nonsense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		16335395	64859815	46	12947										
ZNF90	7643	genome.wustl.edu	37	chr19	20228733	20228733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gtgaaagtgtggatgagggtAaagtacacaaaagaggttat	14	2	0	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:20228733A>G	ENST00000418063.2	+	4	482	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	124					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GGATGAGGGTAAAGTACACAA	0.333																																																	0													123	115	117					19																	20228733		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.370A>G	19.37:g.20228733A>G	ENSP00000410466:p.Lys124Glu		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K124E	ENST00000418063.2	37	c.370	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	A	6.464	0.453819	0.12283	.	.	ENSG00000213988	ENST00000418063	T	0.04654	3.58	1.34	1.34	0.21922	.	.	.	.	.	T	0.06050	0.0157	M	0.62209	1.925	0.09310	N	1	B	0.26902	0.163	B	0.19391	0.025	T	0.30679	-0.9970	9	0.45353	T	0.12	.	6.3617	0.21433	1.0:0.0:0.0:0.0	.	124	Q03938	ZNF90_HUMAN	E	124	ENSP00000410466:K124E	ENSP00000410466:K124E	K	+	1	0	ZNF90	20089733	0.000000	0.05858	0.032000	0.17829	0.032000	0.12392	0.645000	0.24782	0.156000	0.19299	0.155000	0.16302	AAA	ZNF90	-	NULL		0.333	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	A	NM_007138		20228733	1	no_errors	ENST00000418063	ensembl	human	known	70_37	missense	SNP	0.012	G	G	20228733	A	G	20228733	3	3	87	1	0	0	0	0	1	0	0	0	18229	363	13	5	384	5	ZNF90	19	20228733	Missense_Mutation	SNP	A	TCGA-EA-A5O9-01A-11D-A28B-09		20228733	38900250	47	12948			2	54		2	2	17	N	G_A	3.101053e-05
ZNF90	7643	genome.wustl.edu	37	chr19	20228749	20228749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gggtaaagtacacaaaagagGttataatggacttaaccaat	9	5	0	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:20228749G>T	ENST00000418063.2	+	4	498	c.386G>T	c.(385-387)gGt>gTt	p.G129V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	129					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						CACAAAAGAGGTTATAATGGA	0.323																																																	0													124	114	117					19																	20228749		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.386G>T	19.37:g.20228749G>T	ENSP00000410466:p.Gly129Val		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G129V	ENST00000418063.2	37	c.386	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719299	0.15372	.	.	ENSG00000213988	ENST00000418063	T	0.04706	3.57	0.81	0.81	0.18732	.	.	.	.	.	T	0.12050	0.0293	M	0.72118	2.19	0.09310	N	0.999998	D	0.65815	0.995	P	0.58266	0.836	T	0.14980	-1.0453	9	0.40728	T	0.16	.	4.7747	0.13173	0.0:0.0:1.0:0.0	.	129	Q03938	ZNF90_HUMAN	V	129	ENSP00000410466:G129V	ENSP00000410466:G129V	G	+	2	0	ZNF90	20089749	0.000000	0.05858	0.174000	0.22961	0.175000	0.22909	-1.952000	0.01528	0.181000	0.19994	0.184000	0.17185	GGT	ZNF90	-	NULL		0.323	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	G	NM_007138		20228749	1	no_errors	ENST00000418063	ensembl	human	known	70_37	missense	SNP	0.017	T	T	20228749	G	T	20228749	3	4	87	1	0	0	0	0	1	0	0	0	18229	1261	44	4	400	4	ZNF90	19	20228749	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	16	20228749	38900234	48	12949			2	54		2	2	17	N	G_A	3.101053e-05
ZNF737	100129842	genome.wustl.edu	37	chr19	20727556	20727556	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cttaaaagccttgccacatcGttcacatttgtagggtttct	7	10	2	0	rs371242528	byFrequency	TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:20727556G>A	ENST00000427401.4	-	4	1547	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTGCCACATCGTTCACATTTG	0.418																																																	0								G	stop/ARG	1,1383		0,1,691	85	88	87		1453	-1.7	0	19		87	0,3182		0,0,1591	no	stop-gained	ZNF737	NM_001159293.1		0,1,2282	AA,AG,GG		0.0,0.0723,0.0219		485/537	20727556	1,4565	692	1591	2283	SO:0001587	stop_gained	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1453C>T	19.37:g.20727556G>A	ENSP00000395733:p.Arg485*		C9JHM3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R485*	ENST00000427401.4	37	c.1453	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	N	13.83	2.355188	0.41700	7.23E-4	0.0	ENSG00000237440	ENST00000427401	.	.	.	0.867	-1.73	0.08081	.	.	.	.	.	.	.	.	.	.	.	0.46927	D	0.999256	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.537	0.22359	0.0:0.5754:0.4246:0.0	.	.	.	.	X	485	.	ENSP00000395733:R485X	R	-	1	2	ZNF737	20519396	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-5.602000	0.00110	-0.926000	0.03770	-0.923000	0.02734	CGA	ZNF737	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	G	NM_145289		20727556	-1	no_errors	ENST00000427401	ensembl	human	known	70_37	nonsense	SNP	0.003	A	A	20727556	G	A	20727556	4	1	87	1	0	0	0	0	0	1	0	0	18156	1153	40	2	161	2	ZNF737	19	20727556	Nonsense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	498807	20727556	38401427	49	12950										
ZNF419	79744	genome.wustl.edu	37	chr19	58005234	58005234	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gggaatgtgggaaattttttAgccaaagctcaaccctcatg	10	8	2	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr19:58005234A>T	ENST00000221735.7	+	5	1495	c.1309A>T	c.(1309-1311)Agc>Tgc	p.S437C	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S405C|ZNF419_ENST00000415379.2_Missense_Mutation_p.S391C|ZNF419_ENST00000424930.2_Missense_Mutation_p.S438C|ZNF419_ENST00000442920.2_Missense_Mutation_p.S424C|ZNF419_ENST00000426954.2_Missense_Mutation_p.S425C|ZNF419_ENST00000354197.4_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAATTTTTTAGCCAAAGCTC	0.423																																																	0													109	114	113					19																	58005234		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1309A>T	19.37:g.58005234A>T	ENSP00000221735:p.Ser437Cys		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S438C	ENST00000221735.7	37	c.1312	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693700	0.48202	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	2.11	-2.41	0.06562	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20170	0.0485	L	0.33293	1	0.19775	N	0.999959	D;D;D;D;D;D;D	0.76494	0.992;0.992;0.997;0.992;0.999;0.999;0.999	P;P;P;P;P;P;P	0.54140	0.516;0.516;0.703;0.616;0.734;0.743;0.734	T	0.10776	-1.0615	9	0.54805	T	0.06	.	4.0235	0.09677	0.3908:0.3617:0.2475:0.0	.	391;391;424;425;438;405;437	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	C	412;438;425;424;438;405;391;437	ENSP00000388864:S438C;ENSP00000390916:S425C;ENSP00000414709:S424C;ENSP00000299860:S405C;ENSP00000392129:S391C;ENSP00000221735:S437C	ENSP00000221735:S437C	S	+	1	0	ZNF419	62697046	0.000000	0.05858	0.003000	0.11579	0.624000	0.37722	-3.529000	0.00440	-0.966000	0.03587	0.172000	0.16884	AGC	ZNF419	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	A	NM_024691		58005234	1	no_errors	ENST00000424930	ensembl	human	known	70_37	missense	SNP	0.032	T	T	58005234	A	T	58005234	3	4	87	1	0	0	0	0	1	0	0	0	17926	420	15	5	1330	5	ZNF419	19	58005234	Missense_Mutation	SNP	A	TCGA-EA-A5O9-01A-11D-A28B-09	37277678	58005234	1123749	50	12951										
KLHL22	84861	genome.wustl.edu	37	chr22	20796610	20796610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ggctgccgcggttgtgtgagCggccacctaacacatagatc	13	12	0	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr22:20796610C>T	ENST00000328879.4	-	7	1811	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R409H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	552					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGTGTGAGCGGCCACCTAA	0.602																																																	0													72	68	69					22																	20796610		2203	4300	6503	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1655G>A	22.37:g.20796610C>T	ENSP00000331682:p.Arg552His		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R552H	ENST00000328879.4	37	c.1655	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743037	0.89663	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.79033	-1.23;-1.23	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84977	0.0886	10	0.66056	D	0.02	.	17.2701	0.87098	0.0:1.0:0.0:0.0	.	552	Q53GT1	KLH22_HUMAN	H	552;409	ENSP00000331682:R552H;ENSP00000405521:R409H	ENSP00000331682:R552H	R	-	2	0	KLHL22	19126610	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.726000	0.84824	2.687000	0.91594	0.563000	0.77884	CGC	KLHL22	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	C	NM_032775		20796610	-1	no_errors	ENST00000328879	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20796610	C	T	20796610	3	4	87	1	0	0	0	0	1	0	0	0	8397	768	27	2	253	2	KLHL22	22	20796610	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		20796610	30507956	51	12952										
EP300	2033	genome.wustl.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	6	9	3	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98	93	95					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41565529	G	A	41565529	3	1	87	1	0	0	0	0	1	0	0	0	5160	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	20768919	41565529	9739037	52	12953										
MAP3K15	389840	genome.wustl.edu	37	chrX	19449566	19449566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gagggtttaccactcaatggCgctgtcgcggctggtgtcat	14	10	2	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:19449566C>T	ENST00000338883.4	-	7	1155	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A218T|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	386							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CACTCAATGGCGCTGTCGCGG	0.507																																																	0													78	68	71					X																	19449566		1568	3582	5150	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1156G>A	X.37:g.19449566C>T	ENSP00000345629:p.Ala386Thr		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A386T	ENST00000338883.4	37	c.1156		X	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384784	0.82792	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.18960	2.18;2.18	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.75615	2.305	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39354	-0.9618	8	0.87932	D	0	.	14.6124	0.68524	0.146:0.854:0.0:0.0	.	.	.	.	T	386;218	ENSP00000345629:A386T;ENSP00000428356:A218T	ENSP00000345629:A386T	A	-	1	0	MAP3K15	19359487	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	3.697000	0.54764	2.289000	0.77006	0.597000	0.82753	GCC	MAP3K15	-	NULL		0.507	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		C	NM_001001671		19449566	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.990	T	T	19449566	C	T	19449566	3	4	87	1	0	0	0	0	1	0	0	0	9272	768	27	2	2877	2	MAP3K15	23	19449566	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09		19449566	135820994	53	12954										
FTHL17	53940	genome.wustl.edu	37	chrX	31089601	31089601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	cttccggggaacaaatcttgCgcaggttgctcacgtagcca	11	12	2	0			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:31089601C>T	ENST00000359202.3	-	1	569	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	157	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ACAAATCTTGCGCAGGTTGCT	0.612																																																	0													62	56	58					X																	31089601		2202	4300	6502	SO:0001583	missense	53940			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.470G>A	X.37:g.31089601C>T	ENSP00000368207:p.Arg157His		Q6NT24|Q6NTE2	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.R157H	ENST00000359202.3	37	c.470	CCDS14227.1	X	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552878	0.27739	.	.	ENSG00000132446	ENST00000359202	T	0.65364	-0.15	3.95	-0.999	0.10208	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.623726	0.16775	N	0.200054	T	0.41581	0.1165	L	0.41906	1.305	0.09310	N	1	B	0.29627	0.252	B	0.26614	0.071	T	0.20773	-1.0265	10	0.38643	T	0.18	.	0.9246	0.01322	0.1618:0.2855:0.156:0.3967	.	157	Q9BXU8	FHL17_HUMAN	H	157	ENSP00000368207:R157H	ENSP00000368207:R157H	R	-	2	0	FTHL17	30999522	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.020000	0.12525	-0.392000	0.07751	0.544000	0.68410	CGC	FTHL17	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron		0.612	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	C	NM_031894		31089601	-1	no_errors	ENST00000359202	ensembl	human	known	70_37	missense	SNP	0.001	T	T	31089601	C	T	31089601	3	4	87	1	0	0	0	0	1	0	0	0	6101	768	27	2	85	2	FTHL17	23	31089601	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	11640035	31089601	124180959	54	12955										
DMD	1756	genome.wustl.edu	37	chrX	32408240	32408240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gggcagcctccttcccctgaTtatgtttcttcatttcttct	6	13	4	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:32408240T>G	ENST00000357033.4	-	31	4498	c.4292A>C	c.(4291-4293)aAt>aCt	p.N1431T	DMD_ENST00000378677.2_Missense_Mutation_p.N1427T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1431	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCCCCTGATTATGTTTCTT	0.393																																																	0													173	137	149					X																	32408240		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4292A>C	X.37:g.32408240T>G	ENSP00000354923:p.Asn1431Thr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.N1431T	ENST00000357033.4	37	c.4292	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	7.575	0.667526	0.14710	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.17854	2.25;2.25	5.64	3.17	0.36434	.	0.174584	0.25762	U	0.028478	T	0.12433	0.0302	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.32781	0.0;0.384;0.0;0.0;0.0	B;B;B;B;B	0.28305	0.002;0.088;0.001;0.001;0.001	T	0.09314	-1.0680	10	0.14252	T	0.57	.	7.3439	0.26652	0.0:0.076:0.1436:0.7804	.	1423;1431;1427;90;87	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	1423;90;87;1427;1431;1431;1308	ENSP00000367948:N1427T;ENSP00000354923:N1431T	ENSP00000354923:N1431T	N	-	2	0	DMD	32318161	1.000000	0.71417	0.905000	0.35620	0.967000	0.64934	2.368000	0.44222	0.804000	0.34136	0.412000	0.27726	AAT	DMD	-	pirsf_Dystrophin/utrophin		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	T	NM_004006		32408240	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.966	G	G	32408240	T	G	32408240	3	3	87	1	0	0	0	0	1	0	0	0	4590	1493	52	5	7109	5	DMD	23	32408240	Missense_Mutation	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09	1318639	32408240	122862320	55	12956										
MAGEB16	139604	genome.wustl.edu	37	chrX	35820970	35820970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	atcttcatgaagggcaaccgTgccactgaagaggaagtctg	12	9	3	3			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:35820970T>C	ENST00000399989.1	+	2	936	c.657T>C	c.(655-657)cgT>cgC	p.R219R	MAGEB16_ENST00000399988.1_Silent_p.R219R|MAGEB16_ENST00000399987.1_Silent_p.R219R|MAGEB16_ENST00000399985.1_Silent_p.R219R|MAGEB16_ENST00000399992.1_Silent_p.R251R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGGCAACCGTGCCACTGAAG	0.507																																																	0													87	82	84					X																	35820970		2188	4294	6482	SO:0001819	synonymous_variant	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.657T>C	X.37:g.35820970T>C			A8MU30	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R251	ENST00000399989.1	37	c.753	CCDS43927.1	X																																																																																			MAGEB16	-	pfam_MAGE,pfscan_MAGE		0.507	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	T			35820970	1	no_errors	ENST00000399992	ensembl	human	known	70_37	silent	SNP	0.847	C	C	35820970	T	C	35820970	2	2	87	1	0	0	0	0	0	0	0	1	9197	1683	59	5		5	MAGEB16	23	35820970	Silent	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09	3412730	35820970	119449590	56	12957										
MED14	9282	genome.wustl.edu	37	chrX	40571458	40571458	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	gtaggcagttgtacatatccTgaagaggtttctcatcagca	10	8	2	2			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:40571458T>A	ENST00000324817.1	-	7	987	c.869A>T	c.(868-870)cAg>cTg	p.Q290L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	290	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTACATATCCTGAAGAGGTTT	0.423																																																	0													170	141	151					X																	40571458		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.869A>T	X.37:g.40571458T>A	ENSP00000323720:p.Gln290Leu		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.Q290L	ENST00000324817.1	37	c.869	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647663	0.29246	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43669	-0.9377	9	0.09843	T	0.71	.	14.5065	0.67755	0.0:0.0:0.0:1.0	.	290	O60244	MED14_HUMAN	L	290	.	ENSP00000323720:Q290L	Q	-	2	0	MED14	40456402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	1.806000	0.52798	0.486000	0.48141	CAG	MED14	-	NULL		0.423	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	T	NM_004229		40571458	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40571458	T	A	40571458	3	1	87	1	0	0	0	0	1	0	0	0	9455	1580	55	5	3595	5	MED14	23	40571458	Missense_Mutation	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09	4750488	40571458	114699102	57	12958										
SLC9A7	84679	genome.wustl.edu	37	chrX	46618353	46618353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	agaggaggaggccgaggccgCggccgcgactcgcagccccc	17	16	0	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:46618353C>T	ENST00000328306.4	-	1	137	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	38					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GCCGAGGCCGCGGCCGCGACT	0.761																																					Pancreas(118;454 1696 1930 13865 39976)												0													4	5	5					X																	46618353		1923	3837	5760	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.112G>A	X.37:g.46618353C>T	ENSP00000330320:p.Ala38Thr		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A38T	ENST00000328306.4	37	c.112	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179624	0.57800	.	.	ENSG00000065923	ENST00000328306	T	0.55760	0.5	4.1	-0.652	0.11450	.	1.468250	0.03983	N	0.293582	T	0.35422	0.0931	N	0.22421	0.69	0.24316	N	0.995064	B	0.15930	0.015	B	0.06405	0.002	T	0.15263	-1.0443	10	0.09338	T	0.73	.	8.3505	0.32299	0.3352:0.5565:0.1082:0.0	.	38	Q96T83	SL9A7_HUMAN	T	38	ENSP00000330320:A38T	ENSP00000330320:A38T	A	-	1	0	SLC9A7	46503297	.	.	0.949000	0.38748	0.864000	0.49448	.	.	-0.245000	0.09625	0.534000	0.68092	GCG	SLC9A7	-	NULL		0.761	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	C	NM_032591		46618353	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	0.941	T	T	46618353	C	T	46618353	3	4	87	1	0	0	0	0	1	0	0	0	14749	768	27	2	2133	2	SLC9A7	23	46618353	Missense_Mutation	SNP	C	TCGA-EA-A5O9-01A-11D-A28B-09	6046895	46618353	108652207	58	12959										
HTR2C	3358	genome.wustl.edu	37	chrX	114141190	114141190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	ctgtgattggactgagggacGaagaaaaggtgttcgtgaac	15	5	0	4			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:114141190G>A	ENST00000276198.1	+	6	1317	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HTR2C_ENST00000371951.1_Missense_Mutation_p.E197K|HTR2C_ENST00000371950.3_Missense_Mutation_p.R165Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	197					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACTGAGGGACGAAGAAAAGGT	0.443																																																	0													177	148	158					X																	114141190		2203	4300	6503	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.589G>A	X.37:g.114141190G>A	ENSP00000276198:p.Glu197Lys		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.E197K	ENST00000276198.1	37	c.589	CCDS14564.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.261715|2.261715	0.39995|0.39995	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000276198;ENST00000371951|ENST00000371950	T;T|T	0.37915|0.54675	1.17;1.17|0.56	4.87|4.87	3.93|3.93	0.45458|0.45458	GPCR, rhodopsin-like superfamily (1);|.	0.193543|.	0.45361|.	D|.	0.000371|.	T|T	0.39835|0.39835	0.1093|0.1093	L|L	0.28649|0.28649	0.875|0.875	0.22435|0.22435	N|N	0.999108|0.999108	B|B	0.28291|0.25272	0.206|0.122	B|B	0.29785|0.16289	0.107|0.015	T|T	0.21690|0.21690	-1.0238|-1.0238	10|9	0.06236|0.41790	T|T	0.91|0.15	.|.	11.5057|11.5057	0.50466|0.50466	0.0:0.1789:0.8211:0.0|0.0:0.1789:0.8211:0.0	.|.	197|165	P28335|B1AMW4	5HT2C_HUMAN|.	K|Q	197|165	ENSP00000276198:E197K;ENSP00000361019:E197K|ENSP00000361018:R165Q	ENSP00000276198:E197K|ENSP00000361018:R165Q	E|R	+|+	1|2	0|0	HTR2C|HTR2C	114047446|114047446	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.966000|0.966000	0.64601|0.64601	2.318000|2.318000	0.43779|0.43779	2.135000|2.135000	0.66039|0.66039	0.538000|0.538000	0.68166|0.68166	GAA|CGA	HTR2C	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	G	NM_000868		114141190	1	no_errors	ENST00000276198	ensembl	human	known	70_37	missense	SNP	0.898	A	A	114141190	G	A	114141190	3	1	87	1	0	0	0	0	1	0	0	0	7463	1059	37	1	603	1	HTR2C	23	114141190	Missense_Mutation	SNP	G	TCGA-EA-A5O9-01A-11D-A28B-09	67522837	114141190	41129370	59	12960										
AFF2	2334	genome.wustl.edu	37	chrX	148055117	148055117	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	4	0.807549219267343	0.837497958517067	2.72186836518047	0.680467091295117	0.523809523809524	0.747198879551821	0	tccccatacaccatgtactcTgagactgtggagctcctcag	8	14	2	1			TCGA-EA-A5O9-01A-11D-A28B-09	TCGA-EA-A5O9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	56bf72b1-09a0-45d8-825a-ba50340c9d28	ad11f7bb-98ef-4d53-8c5b-703bc234efbe	g.chrX:148055117T>A	ENST00000370460.2	+	16	3863	c.3384T>A	c.(3382-3384)tcT>tcA	p.S1128S	AFF2_ENST00000370457.5_Silent_p.S1093S|AFF2_ENST00000342251.3_Silent_p.S1095S|AFF2_ENST00000286437.5_Silent_p.S769S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1128					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTACTCTGAGACTGTGG	0.443																																																	0													151	113	126					X																	148055117		2203	4300	6503	SO:0001819	synonymous_variant	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3384T>A	X.37:g.148055117T>A			A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.S1128	ENST00000370460.2	37	c.3384	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2		0.443	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	T	NM_002025		148055117	1	no_errors	ENST00000370460	ensembl	human	known	70_37	silent	SNP	0.160	A	A	148055117	T	A	148055117	2	1	87	1	0	0	0	0	0	0	0	1	357	1567	55	5		5	AFF2	23	148055117	Silent	SNP	T	TCGA-EA-A5O9-01A-11D-A28B-09	33913927	148055117	7215443	60	12961										
EPHA3	2042	genome.wustl.edu	37	chr3	89391151	89391151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	tctggcacatactaactacaCctttgagattgatgccgtta	7	10	1	2			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr3:89391151C>G	ENST00000336596.2	+	5	1442	c.1217C>G	c.(1216-1218)aCc>aGc	p.T406S	EPHA3_ENST00000494014.1_Missense_Mutation_p.T406S|EPHA3_ENST00000452448.2_Missense_Mutation_p.T406S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	406	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACTAACTACACCTTTGAGATT	0.517										TSP Lung(6;0.00050)																																							0													94	77	83					3																	89391151		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1217C>G	3.37:g.89391151C>G	ENSP00000337451:p.Thr406Ser		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.T406S	ENST00000336596.2	37	c.1217	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764184	0.69878	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57752	0.38;0.38;0.38	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.65320	2	0.80722	D	1	D;B	0.76494	0.999;0.385	D;B	0.79108	0.992;0.118	T	0.68198	-0.5472	9	.	.	.	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	406;406	P29320;P29320-2	EPHA3_HUMAN;.	S	406	ENSP00000337451:T406S;ENSP00000399926:T406S;ENSP00000419190:T406S	.	T	+	2	0	EPHA3	89473841	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.814000	0.62627	2.832000	0.97577	0.655000	0.94253	ACC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.517	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	C	NM_005233		89391151	1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89391151	C	G	89391151	3	3	88	1	0	0	0	0	1	0	0	0	5180	507	18	4	1235	4	EPHA3	3	89391151	Missense_Mutation	SNP	C	TCGA-EA-A5ZD-01A-11D-A28B-09		89391151	108631279	1	12962										
SEMA5B	54437	genome.wustl.edu	37	chr3	122641210	122641210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	tgtcaccggctgcacggcctCgctcatcaggaagaggcgct	13	14	3	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr3:122641210C>T	ENST00000357599.3	-	11	1743	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E507K|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E453K	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCACGGCCTCGCTCATCAGG	0.667																																																	0													39	37	38					3																	122641210		2203	4300	6503	SO:0001583	missense	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1357G>A	3.37:g.122641210C>T	ENSP00000350215:p.Glu453Lys		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.E507K	ENST00000357599.3	37	c.1519	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.794819	0.96952	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054309	0.64402	D	0.000001	T	0.34861	0.0912	L	0.46885	1.475	0.80722	D	1	P;D;D	0.55800	0.94;0.973;0.973	B;P;P	0.49887	0.396;0.625;0.625	T	0.03384	-1.1042	10	0.54805	T	0.06	.	18.0865	0.89458	0.0:1.0:0.0:0.0	.	395;453;453	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	K	453;453;395;507;453	ENSP00000350215:E453K;ENSP00000195173:E453K;ENSP00000389588:E507K;ENSP00000377208:E453K	ENSP00000195173:E453K	E	-	1	0	SEMA5B	124123900	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.600000	0.82769	2.759000	0.94783	0.591000	0.81541	GAG	SEMA5B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.667	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	C	NM_001031702		122641210	-1	no_errors	ENST00000451055	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122641210	C	T	122641210	3	4	88	1	0	0	0	0	1	0	0	0	14068	893	31	1	2150	1	SEMA5B	3	122641210	Missense_Mutation	SNP	C	TCGA-EA-A5ZD-01A-11D-A28B-09	33250059	122641210	75381220	2	12963										
KDR	3791	genome.wustl.edu	37	chr4	55973990	55973990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	gcatagaccgtacatgtcagCgtttgagtggtgccgtactg	13	9	1	2	rs41279537		TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr4:55973990C>T	ENST00000263923.4	-	10	1621	c.1326G>A	c.(1324-1326)acG>acA	p.T442T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	442	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACATGTCAGCGTTTGAGTGG	0.512			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													241	202	215					4																	55973990		2203	4300	6503	SO:0001819	synonymous_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1326G>A	4.37:g.55973990C>T			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.T442	ENST00000263923.4	37	c.1326	CCDS3497.1	4																																																																																			KDR	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N		0.512	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	C			55973990	-1	no_errors	ENST00000263923	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55973990	C	T	55973990	2	4	88	1	0	0	0	0	0	0	0	1	8159	755	27	2		2	KDR	4	55973990	Silent	SNP	C	TCGA-EA-A5ZD-01A-11D-A28B-09		55973990	135180286	3	12964										
NDST3	9348	genome.wustl.edu	37	chr4	119163280	119163280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	gtttctaggagtcttgcctcAttataattactcagaagctt	7	8	4	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr4:119163280A>G	ENST00000296499.5	+	12	2778	c.2375A>G	c.(2374-2376)cAt>cGt	p.H792R		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	792	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCTTGCCTCATTATAATTAC	0.318																																																	0													104	109	108					4																	119163280		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2375A>G	4.37:g.119163280A>G	ENSP00000296499:p.His792Arg		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.H792R	ENST00000296499.5	37	c.2375	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963917	0.34659	.	.	ENSG00000164100	ENST00000296499	D	0.81739	-1.53	5.73	5.73	0.89815	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	N	0.12920	0.275	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.62412	-0.6860	10	0.21014	T	0.42	.	16.0239	0.80528	1.0:0.0:0.0:0.0	.	792	O95803	NDST3_HUMAN	R	792	ENSP00000296499:H792R	ENSP00000296499:H792R	H	+	2	0	NDST3	119382728	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.766000	0.62279	2.179000	0.69175	0.533000	0.62120	CAT	NDST3	-	pfam_Sulfotransferase_dom		0.318	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	A	NM_004784		119163280	1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119163280	A	G	119163280	3	3	88	1	0	0	0	0	1	0	0	0	10281	217	8	5	2417	5	NDST3	4	119163280	Missense_Mutation	SNP	A	TCGA-EA-A5ZD-01A-11D-A28B-09	63189290	119163280	71990996	4	12965										
RBM27	54439	genome.wustl.edu	37	chr5	145665548	145665548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	ttgtttttgcctgatgatgaCgatgaagatgaagatgaata	11	3	0	8			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr5:145665548C>T	ENST00000265271.5	+	21	3304	c.3138C>T	c.(3136-3138)gaC>gaT	p.D1046D	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1046					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGATGATGACGATGAAGATG	0.338																																																	0													142	124	129					5																	145665548		1568	3582	5150	SO:0001819	synonymous_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.3138C>T	5.37:g.145665548C>T			Q8IYW9	Silent	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D1046	ENST00000265271.5	37	c.3138	CCDS43378.1	5																																																																																			RBM27	-	NULL		0.338	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	C	XM_291128		145665548	1	no_errors	ENST00000265271	ensembl	human	known	70_37	silent	SNP	0.855	T	T	145665548	C	T	145665548	2	4	88	1	0	0	0	0	0	0	0	1	13157	535	19	2		2	RBM27	5	145665548	Silent	SNP	C	TCGA-EA-A5ZD-01A-11D-A28B-09		145665548	35249712	5	12966										
HIVEP1	3096	genome.wustl.edu	37	chr6	12164277	12164277	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	tcccaaagcaaagcatgcgaGacacaacccaagcagacttc	7	14	0	2			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr6:12164277G>A	ENST00000379388.2	+	9	8072	c.7740G>A	c.(7738-7740)gaG>gaA	p.E2580E	HIVEP1_ENST00000541134.1_Silent_p.E445E	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2580					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGCATGCGAGACACAACCCA	0.522																																																	0													73	80	78					6																	12164277		2035	4195	6230	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7740G>A	6.37:g.12164277G>A			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E2580	ENST00000379388.2	37	c.7740	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12164277	1	no_errors	ENST00000379388	ensembl	human	known	70_37	silent	SNP	0.000	A	A	12164277	G	A	12164277	2	1	88	1	0	0	0	0	0	0	0	1	7206	933	33	1		1	HIVEP1	6	12164277	Silent	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		12164277	158950790	6	12967										
VPS52	6293	genome.wustl.edu	37	chr6	33239435	33239435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	tcccgggccgcagccgccatGgtcgcagcggcggccattcc	14	18	0	0			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr6:33239435G>A	ENST00000445902.2	-	1	236	c.18C>T	c.(16-18)acC>acT	p.T6T	VPS52_ENST00000436044.2_Intron|VPS52_ENST00000482399.1_Silent_p.T6T|VPS52_ENST00000478934.1_Intron|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	6					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGCCGCCATGGTCGCAGCGG	0.667																																																	0													15	18	17					6																	33239435		2202	4295	6497	SO:0001819	synonymous_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.18C>T	6.37:g.33239435G>A			A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.T6	ENST00000445902.2	37	c.18	CCDS4770.2	6																																																																																			VPS52	-	NULL		0.667	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33239435	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	silent	SNP	0.995	A	A	33239435	G	A	33239435	2	1	88	1	0	0	0	0	0	0	0	1	17245	1335	47	4		4	VPS52	6	33239435	Silent	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09	21075158	33239435	137875632	7	12968										
C9orf79	286234	genome.wustl.edu	37	chr9	90502270	90502270	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	ccgactggacacaagggcagGgggtgttctcagcccccaac	13	14	1	0			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr9:90502270G>C	ENST00000325643.5	+	4	2934	c.2868G>C	c.(2866-2868)agG>agC	p.R956S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	956					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAAGGGCAGGGGGTGTTCTC	0.622																																																	0													42	43	42					9																	90502270		2203	4299	6502	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2868G>C	9.37:g.90502270G>C	ENSP00000322640:p.Arg956Ser		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.R956S	ENST00000325643.5	37	c.2868	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	g	9.537	1.112355	0.20795	.	.	ENSG00000177992	ENST00000325643	T	0.03663	3.85	2.46	1.38	0.22167	.	0.592097	0.14577	N	0.311140	T	0.08223	0.0205	M	0.68317	2.08	0.09310	N	1	D	0.55385	0.971	P	0.53062	0.717	T	0.23476	-1.0187	10	0.32370	T	0.25	.	6.2614	0.20901	0.0:0.0:0.5998:0.4002	.	956	Q6ZUB1	CI079_HUMAN	S	956	ENSP00000322640:R956S	ENSP00000322640:R956S	R	+	3	2	C9orf79	89692090	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.084000	0.03393	0.420000	0.25954	0.557000	0.71058	AGG	SPATA31E1	-	NULL		0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	G	NM_178828		90502270	1	no_errors	ENST00000325643	ensembl	human	known	70_37	missense	SNP	0.001	C	C	90502270	G	C	90502270	3	2	88	1	0	0	0	0	1	0	0	0	2502	1223	43	4	2882	4	C9orf79	9	90502270	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		90502270	50711161	8	12969										
FAT3	120114	genome.wustl.edu	37	chr11	92532414	92532414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	ttaacattgaagacataaatGacaattctccagtctttgtg	6	7	2	3			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr11:92532414G>A	ENST00000298047.6	+	9	6252	c.6235G>A	c.(6235-6237)Gac>Aac	p.D2079N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2079N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1929N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2079	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACATAAATGACAATTCTCC	0.493										TCGA Ovarian(4;0.039)																																							0													72	77	76					11																	92532414		1983	4165	6148	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6235G>A	11.37:g.92532414G>A	ENSP00000298047:p.Asp2079Asn		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2079N	ENST00000298047.6	37	c.6235		11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491252	0.84962	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.71579	-0.58;-0.58;-0.58	5.9	5.9	0.94986	.	.	.	.	.	D	0.89121	0.6625	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90882	0.4754	9	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	2079	Q8TDW7-3	.	N	2079;2079;1929	ENSP00000298047:D2079N;ENSP00000387040:D2079N;ENSP00000432586:D1929N	ENSP00000298047:D2079N	D	+	1	0	FAT3	92172062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.806000	0.96561	0.655000	0.94253	GAC	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92532414	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92532414	G	A	92532414	3	1	88	1	0	0	0	0	1	0	0	0	5709	1290	45	1	6269	1	FAT3	11	92532414	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		92532414	42474102	9	12970										
DIP2B	57609	genome.wustl.edu	37	chr12	51138529	51138529	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	gtggacccaggtgtcatcccGatcaactccagaggagagaa	12	11	2	2	rs546140546	byFrequency	TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr12:51138529G>A	ENST00000301180.5	+	38	4672	c.4638G>A	c.(4636-4638)ccG>ccA	p.P1546P	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1546						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTGTCATCCCGATCAACTCCA	0.532													G|||	2	0.000399361	0	0	5008	,	,		19143	0		0	False		,,,				2504	0.002																0													142	113	123					12																	51138529		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4638G>A	12.37:g.51138529G>A			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.P1546	ENST00000301180.5	37	c.4638	CCDS31799.1	12																																																																																			DIP2B	-	NULL		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51138529	1	no_errors	ENST00000301180	ensembl	human	known	70_37	silent	SNP	0.734	A	A	51138529	G	A	51138529	2	1	88	1	0	0	0	0	0	0	0	1	4538	1045	37	1		1	DIP2B	12	51138529	Silent	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		51138529	82713366	10	12971										
CNOT2	4848	genome.wustl.edu	37	chr12	70729334	70729334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	taaaccccttggctggaagaGctccttatggtaattaagct	9	9	0	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr12:70729334G>T	ENST00000418359.3	+	9	1217	c.766G>T	c.(766-768)Gct>Tct	p.A256S	CNOT2_ENST00000229195.3_Missense_Mutation_p.A256S|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	256					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGCTGGAAGAGCTCCTTATGG	0.413																																																	0													116	108	111					12																	70729334		2203	4300	6503	SO:0001583	missense	4848			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.766G>T	12.37:g.70729334G>T	ENSP00000412091:p.Ala256Ser		Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.A256S	ENST00000418359.3	37	c.766	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355063	0.61293	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000552483;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.43152	1.355	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.62450	-0.6852	10	0.02654	T	1	-4.7429	19.268	0.93997	0.0:0.0:1.0:0.0	.	256	Q9NZN8	CNOT2_HUMAN	S	256;256;256;119;195;110;247;256;66	ENSP00000450318:A256S;ENSP00000229195:A256S;ENSP00000412091:A256S;ENSP00000448490:A119S;ENSP00000447497:A195S;ENSP00000450077:A110S;ENSP00000449659:A247S;ENSP00000449260:A256S;ENSP00000448499:A66S	ENSP00000229195:A256S	A	+	1	0	CNOT2	69015601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.974000	0.88039	2.622000	0.88805	0.650000	0.86243	GCT	CNOT2	-	NULL		0.413	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	G			70729334	1	no_errors	ENST00000229195	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70729334	G	T	70729334	3	4	88	1	0	0	0	0	1	0	0	0	3624	971	34	4	792	4	CNOT2	12	70729334	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09	19590805	70729334	63122561	11	12972										
MAP3K9	4293	genome.wustl.edu	37	chr14	71197432	71197432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	gttggcagaaggacgcggccGaggcagaaactccagagtct	15	10	1	3			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr14:71197432G>A	ENST00000554752.2	-	12	2979	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R722W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R971W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R727W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1008W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	994					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGACGCGGCCGAGGCAGAAAC	0.627																																					GBM(114;411 1587 13539 28235 50070)												0													46	49	48					14																	71197432		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2980C>T	14.37:g.71197432G>A	ENSP00000451612:p.Arg994Trp		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.R1008W	ENST00000554752.2	37	c.3022		14	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972002	0.53614	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.85556	-1.68;-2.0;-1.7;-1.74	4.84	3.93	0.45458	.	0.054353	0.64402	D	0.000001	D	0.89918	0.6854	L	0.57536	1.79	0.48830	D	0.999718	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.965;0.994;0.998	D	0.90446	0.4435	10	0.87932	D	0	.	12.3629	0.55213	0.0:0.0:0.5715:0.4285	.	722;994;1008;727	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	994;1008;727;971;722;710	ENSP00000451612:R994W;ENSP00000451038:R727W;ENSP00000370649:R971W;ENSP00000451921:R722W	ENSP00000005198:R1008W	R	-	1	2	MAP3K9	70267185	0.998000	0.40836	1.000000	0.80357	0.669000	0.39330	2.587000	0.46128	1.240000	0.43803	0.655000	0.94253	CGG	MAP3K9	-	pirsf_MAPKKK9/10/11		0.627	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	G			71197432	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	0.953	A	A	71197432	G	A	71197432	3	1	88	1	0	0	0	0	1	0	0	0	9280	1057	37	1	338	1	MAP3K9	14	71197432	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		71197432	36152108	12	12973										
GABRB3	2562	genome.wustl.edu	37	chr15	26806135	26806135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	cttggctgtcttttctgcaaGcttcttctgcctttgagggc	10	11	4	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr15:26806135G>T	ENST00000311550.5	-	8	1135	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	GABRB3_ENST00000400188.3_Missense_Mutation_p.L271I|GABRB3_ENST00000299267.4_Missense_Mutation_p.L342I|GABRB3_ENST00000541819.2_Missense_Mutation_p.L398I|GABRB3_ENST00000545868.1_Missense_Mutation_p.L257I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	342					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTCTGCAAGCTTCTTCTGC	0.517																																																	0													180	191	187					15																	26806135		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1024C>A	15.37:g.26806135G>T	ENSP00000308725:p.Leu342Ile		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L342I	ENST00000311550.5	37	c.1024	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831652	0.50845	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.19	4.27	0.50696	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.79393	0.4438	L	0.39467	1.215	0.53688	D	0.999973	B;B;B	0.16396	0.017;0.004;0.009	B;B;B	0.18263	0.021;0.007;0.008	T	0.75169	-0.3412	9	0.37606	T	0.19	.	13.2454	0.60020	0.078:0.0:0.922:0.0	.	398;342;342	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	342;398;342;271;257	ENSP00000308725:L342I;ENSP00000442408:L398I;ENSP00000299267:L342I;ENSP00000383049:L271I;ENSP00000439169:L257I	ENSP00000299267:L342I	L	-	1	0	GABRB3	24357228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	2.416000	0.81992	0.655000	0.94253	CTT	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel		0.517	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	G			26806135	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26806135	G	T	26806135	3	4	88	1	0	0	0	0	1	0	0	0	6186	971	34	4	405	4	GABRB3	15	26806135	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		26806135	75725257	13	12974										
LBXCOR1	390598	genome.wustl.edu	37	chr15	68125560	68125560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	taacgaactcgaccaggagcGgaaggcgcgctatgccatcc	12	13	0	0			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr15:68125560G>A	ENST00000380035.2	+	8	2826	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	RP11-34F13.3_ENST00000558889.1_RNA|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Missense_Mutation_p.R879Q|SKOR1_ENST00000554240.1_Missense_Mutation_p.R884Q|SKOR1_ENST00000554054.1_Missense_Mutation_p.R895Q|SKOR1_ENST00000341418.5_Missense_Mutation_p.R826Q			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	923					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GACCAGGAGCGGAAGGCGCGC	0.607																																																	0													57	53	55					15																	68125560		2200	4298	6498	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2768G>A	15.37:g.68125560G>A	ENSP00000369374:p.Arg923Gln		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.R923Q	ENST00000380035.2	37	c.2768		15	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835404	0.91117	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.77489	-1.1;-1.06;-1.06;-1.07;-1.06	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.82467	0.5043	L	0.29908	0.895	0.33176	D	0.548989	D	0.89917	1.0	D	0.72982	0.979	D	0.86445	0.1769	10	0.72032	D	0.01	-23.6603	17.9801	0.89138	0.0:0.0:1.0:0.0	.	879	P84550-3	.	Q	826;884;895;923;879	ENSP00000343200:R826Q;ENSP00000451193:R884Q;ENSP00000452361:R895Q;ENSP00000369374:R923Q;ENSP00000373654:R879Q	ENSP00000343200:R826Q	R	+	2	0	SKOR1	65912614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.972000	0.88022	2.655000	0.90218	0.462000	0.41574	CGG	SKOR1	-	NULL		0.607	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	G	NM_001031807		68125560	1	no_errors	ENST00000380035	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68125560	G	A	68125560	3	1	88	1	0	0	0	0	1	0	0	0	8675	1116	39	2	2670	2	LBXCOR1	15	68125560	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09	41319425	68125560	34405832	14	12975										
A2BP1	54715	genome.wustl.edu	37	chr16	7629836	7629836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	agacacaaccttctgaaaacAcggaaaacaagtctcagccc	6	13	2	2			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr16:7629836A>G	ENST00000550418.1	+	6	1316	c.328A>G	c.(328-330)Acg>Gcg	p.T110A	RBFOX1_ENST00000422070.4_Missense_Mutation_p.T153A|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T153A|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T110A|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T130A|RBFOX1_ENST00000436368.2_Missense_Mutation_p.T130A|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T110A|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T145A|RBFOX1_ENST00000340209.4_Missense_Mutation_p.T115A|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T130A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	110					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCTGAAAACACGGAAAACAA	0.512																																					Ovarian(157;934 2567 15163 39509)												0													150	137	141					16																	7629836		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.328A>G	16.37:g.7629836A>G	ENSP00000450031:p.Thr110Ala		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.T153A	ENST00000550418.1	37	c.457	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612575	0.46631	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.39	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);	0.055129	0.64402	D	0.000001	T	0.51381	0.1671	L	0.54323	1.7	0.47009	D	0.999286	B;B;D;B;D;B;B;B	0.71674	0.113;0.069;0.998;0.029;0.992;0.002;0.012;0.057	B;B;D;B;D;B;B;B	0.80764	0.07;0.032;0.994;0.022;0.984;0.01;0.01;0.113	T	0.41161	-0.9524	10	0.29301	T	0.29	-5.3434	11.7568	0.51880	0.8681:0.0:0.0:0.1318	.	130;153;130;130;130;110;110;153	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	A	109;110;110;153;153;145;110;110;130;130;130;130;115	ENSP00000450402:T109A;ENSP00000450031:T110A;ENSP00000447753:T110A;ENSP00000446842:T153A;ENSP00000391269:T153A;ENSP00000448496:T145A;ENSP00000447281:T110A;ENSP00000447717:T110A;ENSP00000402745:T130A;ENSP00000309117:T130A;ENSP00000347855:T130A;ENSP00000344196:T115A	ENSP00000309117:T130A	T	+	1	0	RBFOX1	7569837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.373000	0.52394	0.872000	0.35775	0.533000	0.62120	ACG	RBFOX1	-	pirsf_RNA-bd_Fox-1		0.512	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	A	NM_145891		7629836	1	no_errors	ENST00000547372	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7629836	A	G	7629836	3	3	88	1	0	0	0	0	1	0	0	0	3	159	6	5	429	5	A2BP1	16	7629836	Missense_Mutation	SNP	A	TCGA-EA-A5ZD-01A-11D-A28B-09		7629836	82724917	15	12976										
USP43	124739	genome.wustl.edu	37	chr17	9615324	9615324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	gtctgatcactggctcttacGgctcgggagccacgctggca	13	13	3	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr17:9615324G>A	ENST00000285199.7	+	14	2306	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.R732Q	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	737					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGGCTCTTACGGCTCGGGAGC	0.637																																																	0													26	29	28					17																	9615324		1988	4147	6135	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2210G>A	17.37:g.9615324G>A	ENSP00000285199:p.Arg737Gln		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R737Q	ENST00000285199.7	37	c.2210	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524854	0.64747	.	.	ENSG00000154914	ENST00000285199	T	0.15603	2.41	4.9	4.9	0.64082	.	0.572466	0.14770	U	0.299468	T	0.40171	0.1106	M	0.63843	1.955	0.50467	D	0.999876	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	P;P;P;D	0.70227	0.733;0.896;0.885;0.968	T	0.12760	-1.0535	10	0.87932	D	0	-28.0757	15.6088	0.76696	0.0:0.0:1.0:0.0	.	732;426;737;249	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	Q	737	ENSP00000285199:R737Q	ENSP00000285199:R737Q	R	+	2	0	USP43	9556049	1.000000	0.71417	0.479000	0.27329	0.043000	0.13939	8.227000	0.89787	2.543000	0.85770	0.561000	0.74099	CGG	USP43	-	NULL		0.637	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	G	NM_153210		9615324	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.998	A	A	9615324	G	A	9615324	3	1	88	1	0	0	0	0	1	0	0	0	17105	1116	39	2	2264	2	USP43	17	9615324	Missense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		9615324	71579886	16	12977										
MYO15A	51168	genome.wustl.edu	37	chr17	18067132	18067132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	ggccttcaatgaatatgttaTcttcgttgtcaccaaccgtg	8	10	3	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr17:18067132T>C	ENST00000205890.5	+	60	10105	c.9767T>C	c.(9766-9768)aTc>aCc	p.I3256T	MYO15A_ENST00000418233.3_Missense_Mutation_p.I520T|MYO15A_ENST00000451725.2_Missense_Mutation_p.I148T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3256	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAATATGTTATCTTCGTTGTC	0.587																																																	0													76	79	78					17																	18067132		2045	4197	6242	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9767T>C	17.37:g.18067132T>C	ENSP00000205890:p.Ile3256Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.I3256T	ENST00000205890.5	37	c.9767	CCDS42271.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.376398|4.376398	0.82682|0.82682	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000451725|ENST00000445289	D;D|.	0.97642|.	-2.45;-4.47|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Band 4.1 domain (1);FERM domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.64832|0.64832	0.2634|0.2634	L|L	0.50333|0.50333	1.59|1.59	0.50313|0.50313	D|D	0.999862|0.999862	P;P;P;D;D;D|D	0.58970|0.61080	0.949;0.839;0.871;0.979;0.983;0.984|0.989	P;B;P;P;P;P|P	0.53266|0.55087	0.621;0.432;0.623;0.702;0.722;0.632|0.768	T|T	0.68093|0.68093	-0.5500|-0.5500	9|8	0.62326|0.59425	D|D	0.03|0.04	.|.	14.7596|14.7596	0.69596|0.69596	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	148;245;520;3256;178;263|5	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0|B4DMU9	.;.;.;MYO15_HUMAN;.;.|.	T|P	3256;245;148|5	ENSP00000205890:I3256T;ENSP00000409098:I148T|.	ENSP00000205890:I3256T|ENSP00000401827:S5P	I|S	+|+	2|1	0|0	MYO15A|MYO15A	18007857|18007857	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	7.573000|7.573000	0.82421|0.82421	2.078000|2.078000	0.62432|0.62432	0.459000|0.459000	0.35465|0.35465	ATC|TCT	MYO15A	-	smart_Band_41_domain,pfscan_FERM_domain		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	T	NM_016239		18067132	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18067132	T	C	18067132	3	2	88	1	0	0	0	0	1	0	0	0	10086	1435	50	5	9997	5	MYO15A	17	18067132	Missense_Mutation	SNP	T	TCGA-EA-A5ZD-01A-11D-A28B-09	8451808	18067132	63128078	17	12978										
NOTCH3	4854	genome.wustl.edu	37	chr19	15299079	15299079	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	gcagctgaagccattgactcGgtccttgcagaccccaccgt	10	15	0	3			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr19:15299079G>A	ENST00000263388.2	-	9	1534	c.1459C>T	c.(1459-1461)Cga>Tga	p.R487*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	487	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCATTGACTCGGTCCTTGCAG	0.592																																																	0													44	38	40					19																	15299079		2203	4300	6503	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1459C>T	19.37:g.15299079G>A	ENSP00000263388:p.Arg487*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.R487*	ENST00000263388.2	37	c.1459	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	g	39	7.372655	0.98241	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.04	-0.00534	0.14018	.	0.000000	0.30126	N	0.010347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	9.9283	0.41505	0.0:0.1034:0.198:0.6986	.	.	.	.	X	487;489	.	ENSP00000263388:R487X	R	-	1	2	NOTCH3	15160079	0.000000	0.05858	0.993000	0.49108	0.971000	0.66376	0.141000	0.16076	0.066000	0.16515	0.556000	0.70494	CGA	NOTCH3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.592	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15299079	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonsense	SNP	0.967	A	A	15299079	G	A	15299079	4	1	88	1	0	0	0	0	0	1	0	0	10574	1124	39	2	5606	2	NOTCH3	19	15299079	Nonsense_Mutation	SNP	G	TCGA-EA-A5ZD-01A-11D-A28B-09		15299079	43829904	18	12979										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	88	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-EA-A5ZD-01A-11D-A28B-09		22127164	29177402	19	12980										
DCAF12L1	139170	genome.wustl.edu	37	chrX	125686155	125686155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	0.718122287291148	0.975446428571429	0	1.13802083333333	0.333333333333333	0.569890847767481	0	ggatgccgcagccctgttggTcctgggccagcctggcctca	14	15	1	0			TCGA-EA-A5ZD-01A-11D-A28B-09	TCGA-EA-A5ZD-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fd39abc-ea1a-42b8-8cc1-90ec3de41c86	b8a74f15-4ec7-45dd-809b-4460c734ee33	g.chrX:125686155T>C	ENST00000371126.1	-	1	679	c.437A>G	c.(436-438)gAc>gGc	p.D146G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	146										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCCTGTTGGTCCTGGGCCAG	0.632																																																	0													94	82	86					X																	125686155		2203	4300	6503	SO:0001583	missense	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.437A>G	X.37:g.125686155T>C	ENSP00000360167:p.Asp146Gly		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D146G	ENST00000371126.1	37	c.437	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	0.134	-1.109875	0.01813	.	.	ENSG00000198889	ENST00000371126	T	0.29655	1.56	3.49	-4.42	0.03579	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.08223	0.0205	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	9	0.20519	T	0.43	.	2.0774	0.03628	0.1049:0.2691:0.1939:0.4321	.	146	Q5VU92	DC121_HUMAN	G	146	ENSP00000360167:D146G	ENSP00000360167:D146G	D	-	2	0	DCAF12L1	125513836	0.710000	0.27896	0.000000	0.03702	0.004000	0.04260	0.929000	0.28844	-1.191000	0.02695	-0.802000	0.03209	GAC	DCAF12L1	-	superfamily_WD40_repeat_dom		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	T	NM_178470		125686155	-1	no_errors	ENST00000371126	ensembl	human	known	70_37	missense	SNP	0.001	C	C	125686155	T	C	125686155	3	2	88	1	0	0	0	0	1	0	0	0	4269	1667	58	5	958	5	DCAF12L1	23	125686155	Missense_Mutation	SNP	T	TCGA-EA-A5ZD-01A-11D-A28B-09		125686155	29584405	20	12981										
DLGAP3	58512	genome.wustl.edu	37	chr1	35365814	35365814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gctgccgctccgcatcctgcGgcaggggatctccccatcct	11	18	1	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:35365814G>A	ENST00000373347.1	-	4	1436	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R390C			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	390					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGCATCCTGCGGCAGGGGATC	0.627																																																	0													96	96	96					1																	35365814		2203	4300	6503	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1168C>T	1.37:g.35365814G>A	ENSP00000362444:p.Arg390Cys		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.R390C	ENST00000373347.1	37	c.1168	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064180	0.76187	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.34472	1.36;1.36	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64202	-0.6463	10	0.87932	D	0	-13.5469	12.3663	0.55230	0.0:0.0:0.8314:0.1686	.	390	O95886	DLGP3_HUMAN	C	390;390;73	ENSP00000362444:R390C;ENSP00000235180:R390C	ENSP00000235180:R390C	R	-	1	0	DLGAP3	35138401	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.429000	0.52800	2.296000	0.77279	0.313000	0.20887	CGC	DLGAP3	-	NULL		0.627	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35365814	-1	no_errors	ENST00000235180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35365814	G	A	35365814	3	1	89	1	0	0	0	0	1	0	0	0	4571	1116	39	2	1807	2	DLGAP3	1	35365814	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		35365814	213884807	1	12982										
SMG7	9887	genome.wustl.edu	37	chr1	183515398	183515399	+	Frame_Shift_Ins	INS	-	-	T													0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	aatggcacagcaagcaaacaINStagaccgcaggggcaaacgg					rs193125763		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:183515398_183515399insT	ENST00000347615.2	+	17	2787_2788	c.2668_2669insT	c.(2668-2670)atafs	p.I890fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.I844fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.I802fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.I873fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.I848fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.I844fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	890					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAAGCAAACATAGACCGCAGG	0.49																																																	0																																										SO:0001589	frameshift_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2669dupT	1.37:g.183515399_183515399dupT	ENSP00000340766:p.Ile890fs		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	pfam_EST1	p.D845fs	ENST00000347615.2	37	c.2530_2531	CCDS1355.1	1																																																																																			SMG7	-	NULL		0.49	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	NM_014837		183515399	1	no_errors	ENST00000507469	ensembl	human	known	70_37	frame_shift_ins	INS	0.013:0.939	T	T	183515399	-	T	183515398	7	5	89	1	0	1	1	0	0	0	0	0	14828	217	8	0	2734	0	SMG7	1	183515398	Frame_Shift_Ins	INS	-	TCGA-EA-A5ZE-01A-11D-A28B-09	148149584	183515398	65735223	2	12983										
ASPM	259266	genome.wustl.edu	37	chr1	197091367	197091367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ccaaggtctctaactgcagaCctaaccaagtgaaaattttt	6	10	1	2	rs199422158		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:197091367C>T	ENST00000367409.4	-	15	3919	c.3663G>A	c.(3661-3663)agG>agA	p.R1221R	ASPM_ENST00000294732.7_Silent_p.R1221R|ASPM_ENST00000367408.1_Silent_p.R471R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1221	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACTGCAGACCTAACCAAGT	0.348																																																	0			GRCh37	CD033166	ASPM	D							41	42	42					1																	197091367		2203	4298	6501	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3663G>A	1.37:g.197091367C>T			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R1221	ENST00000367409.4	37	c.3663	CCDS1389.1	1																																																																																			ASPM	-	superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197091367	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	0.619	T	T	197091367	C	T	197091367	2	4	89	1	0	0	0	0	0	0	0	1	1057	506	18	4		4	ASPM	1	197091367	Silent	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	13575969	197091367	52159254	3	12984										
OR2T5	401993	genome.wustl.edu	37	chr1	248651905	248651905	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	acctcatggccaacatcaccAggatggccaaccacactgga	8	15	2	0	rs199833498	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:248651905A>T	ENST00000366473.2	+	1	21	c.16A>T	c.(16-18)Agg>Tgg	p.R6W		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAACATCACCAGGATGGCCAA	0.468																																																	0								G	TRP/ARG	2483,1837		735,1013,412	9	18	15		16	-1.2	0	1	dbSNP_134	15	830,7564		23,784,3390	no	missense	OR2T5	NM_001004697.1	101	758,1797,3802	TT,TA,AA		9.888,42.5231,26.0579	benign	6/316	248651905	3313,9401	2160	4197	6357	SO:0001583	missense	401993			BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"GPCR / Class A : Olfactory receptors"	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.16A>T	1.37:g.248651905A>T	ENSP00000355429:p.Arg6Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R6W	ENST00000366473.2	37	c.16	CCDS31118.1	1	473	0.21657509157509158	267	0.5426829268292683	39	0.10773480662983426	102	0.17832167832167833	65	0.08575197889182058	N	5.318	0.244015	0.10077	0.574769	0.09888	ENSG00000203661	ENST00000366473	T	0.00466	7.23	1.62	-1.23	0.09465	.	0.645074	0.13113	N	0.412838	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	9	0.20519	T	0.43	.	2.9675	0.05912	0.4493:0.0:0.2207:0.33	.	6	Q6IEZ7	OR2T5_HUMAN	W	6	ENSP00000355429:R6W	ENSP00000355429:R6W	R	+	1	2	OR2T5	246718528	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.264000	0.02847	-0.288000	0.09051	-3.213000	0.00053	AGG	OR2T5	-	NULL		0.468	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T5	HGNC	protein_coding	OTTHUMT00000097422.1	A	NM_001004697		248651905	1	no_errors	ENST00000366473	ensembl	human	known	70_37	missense	SNP	0.000	T	T	248651905	A	T	248651905	3	4	89	1	0	0	0	0	1	0	0	0	11052	179	7	5	18	5	OR2T5	1	248651905	Missense_Mutation	SNP	A	TCGA-EA-A5ZE-01A-11D-A28B-09	51560538	248651905	598716	4	12985										
SCN2A	6326	genome.wustl.edu	37	chr2	166167041	166167041	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tttaacaattcattggatggGaatggtactactttcaatag	8	5	2	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:166167041G>A	ENST00000375437.2	+	7	1196	c.906G>A	c.(904-906)ggG>ggA	p.G302G	SCN2A_ENST00000283256.6_Silent_p.G302G|SCN2A_ENST00000357398.3_Silent_p.G302G|SCN2A_ENST00000375427.2_Silent_p.G302G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	302					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTGGATGGGAATGGTACTA	0.323																																																	0													91	91	91					2																	166167041		2203	4299	6502	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.906G>A	2.37:g.166167041G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G302	ENST00000375437.2	37	c.906	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom		0.323	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166167041	1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.640	A	A	166167041	G	A	166167041	2	1	89	1	0	0	0	0	0	0	0	1	13946	1161	41	1		1	SCN2A	2	166167041	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		166167041	77032332	5	12986										
KIF1A	547	genome.wustl.edu	37	chr2	241663449	241663449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ctcgtacacaccagtcacacGgttactgtggggagtagaag	12	10	1	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:241663449G>A	ENST00000320389.7	-	39	4116	c.3958C>T	c.(3958-3960)Cgt>Tgt	p.R1320C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1421C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1320					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGTCACACGGTTACTGTGG	0.622																																																	0													97	108	105					2																	241663449		2137	4245	6382	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3958C>T	2.37:g.241663449G>A	ENSP00000322791:p.Arg1320Cys		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1421C	ENST00000320389.7	37	c.4261	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290280	0.40494	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76060	-0.78;-0.86;-0.99	4.24	3.31	0.37934	.	0.059384	0.64402	U	0.000001	T	0.64382	0.2593	L	0.45285	1.41	0.58432	D	0.999998	B;B;B	0.31153	0.31;0.054;0.02	B;B;B	0.25759	0.063;0.004;0.006	T	0.69254	-0.5193	10	0.66056	D	0.02	.	12.2079	0.54363	0.0:0.0:0.829:0.171	.	1421;1429;1320	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	1320;1421;1429;1429	ENSP00000322791:R1320C;ENSP00000438388:R1421C;ENSP00000384231:R1429C	ENSP00000322791:R1320C	R	-	1	0	KIF1A	241312122	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	5.417000	0.66423	1.912000	0.55364	0.591000	0.81541	CGT	KIF1A	-	NULL		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241663449	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	A	A	241663449	G	A	241663449	3	1	89	1	0	0	0	0	1	0	0	0	8303	1116	39	2	1150	2	KIF1A	2	241663449	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	75496408	241663449	1535924	6	12987										
BOC	91653	genome.wustl.edu	37	chr3	112993432	112993432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	catcatcctcagctcgccccGcacctccaagacagactcat	5	19	3	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:112993432G>A	ENST00000495514.1	+	9	2149	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	BOC_ENST00000355385.3_Missense_Mutation_p.R482H|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Missense_Mutation_p.R482H			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	482	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCTCGCCCCGCACCTCCAAG	0.647																																																	0													34	39	37					3																	112993432		2203	4298	6501	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1445G>A	3.37:g.112993432G>A	ENSP00000418663:p.Arg482His		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R482H	ENST00000495514.1	37	c.1445	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.350830	0.95830	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.29917	1.55;1.55;1.55	5.8	5.8	0.92144	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.49925	-0.8887	10	0.59425	D	0.04	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	482;482	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	482	ENSP00000418663:R482H;ENSP00000273395:R482H;ENSP00000347546:R482H	ENSP00000273395:R482H	R	+	2	0	BOC	114476122	1.000000	0.71417	0.989000	0.46669	0.740000	0.42216	7.586000	0.82596	2.758000	0.94735	0.563000	0.77884	CGC	BOC	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	G	NM_033254		112993432	1	no_errors	ENST00000273395	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112993432	G	A	112993432	3	1	89	1	0	0	0	0	1	0	0	0	1482	1087	38	2	1471	2	BOC	3	112993432	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		112993432	85028998	7	12988										
FBXO40	51725	genome.wustl.edu	37	chr3	121340434	121340434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ccacatgtgcaaagaggcagAgcaccagctcctctgccctt	9	15	1	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:121340434A>G	ENST00000338040.4	+	3	572	c.158A>G	c.(157-159)gAg>gGg	p.E53G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	53					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGAGGCAGAGCACCAGCTC	0.582																																																	0													99	90	93					3																	121340434		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.158A>G	3.37:g.121340434A>G	ENSP00000337510:p.Glu53Gly		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.E53G	ENST00000338040.4	37	c.158	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847685	0.71603	.	.	ENSG00000163833	ENST00000338040	T	0.46451	0.87	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72367	-0.4315	10	0.87932	D	0	-22.4289	13.4915	0.61397	1.0:0.0:0.0:0.0	.	53	Q9UH90	FBX40_HUMAN	G	53	ENSP00000337510:E53G	ENSP00000337510:E53G	E	+	2	0	FBXO40	122823124	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.307000	0.96226	2.089000	0.63090	0.533000	0.62120	GAG	FBXO40	-	superfamily_TRAF-like		0.582	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	A	NM_016298		121340434	1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121340434	A	G	121340434	3	3	89	1	0	0	0	0	1	0	0	0	5767	304	11	5	164	5	FBXO40	3	121340434	Missense_Mutation	SNP	A	TCGA-EA-A5ZE-01A-11D-A28B-09	8347002	121340434	76681996	8	12989										
IGSF10	285313	genome.wustl.edu	37	chr3	151165584	151165584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tcgatgtgttgaatctccacGtcgctggagtgttaattccc	10	10	1	1	rs372971163		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:151165584G>A	ENST00000282466.3	-	4	2184	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	729					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATCTCCACGTCGCTGGAGT	0.498																																																	0								G	CYS/ARG	0,4406		0,0,2203	83	70	74		2185	5.3	0	3		74	2,8598	2.2+/-6.3	0,2,4298	no	missense	IGSF10	NM_178822.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	729/2624	151165584	2,13004	2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2185C>T	3.37:g.151165584G>A	ENSP00000282466:p.Arg729Cys		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R729C	ENST00000282466.3	37	c.2185	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211155	0.58343	0.0	2.33E-4	ENSG00000152580	ENST00000282466	T	0.71341	-0.56	5.26	5.26	0.73747	.	0.459579	0.18377	N	0.143093	T	0.67249	0.2873	L	0.32530	0.975	0.09310	N	0.999997	D	0.65815	0.995	P	0.49387	0.609	T	0.63373	-0.6652	10	0.66056	D	0.02	.	12.5612	0.56281	0.0:0.0:0.7089:0.2911	.	729	Q6WRI0	IGS10_HUMAN	C	729	ENSP00000282466:R729C	ENSP00000282466:R729C	R	-	1	0	IGSF10	152648274	0.026000	0.19158	0.023000	0.16930	0.007000	0.05969	2.173000	0.42472	2.455000	0.83008	0.591000	0.81541	CGT	IGSF10	-	NULL		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	G	NM_178822		151165584	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.008	A	A	151165584	G	A	151165584	3	1	89	1	0	0	0	0	1	0	0	0	7617	1145	40	2	5746	2	IGSF10	3	151165584	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	29825150	151165584	46856846	9	12990										
MUC4	4585	genome.wustl.edu	37	chr3	195481096	195481096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cggctcacccgcacagtgccGcccatccccagtcaggtttg	10	18	2	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:195481096G>A	ENST00000346145.4	-	18	2647	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	MUC4_ENST00000463781.3_Missense_Mutation_p.R5106W|MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W|MUC4_ENST00000349607.4_Missense_Mutation_p.R819W	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1863	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACAGTGCCGCCCATCCCCA	0.637																																																	0													64	69	68					3																	195481096		2203	4300	6503	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2608C>T	3.37:g.195481096G>A	ENSP00000304207:p.Arg870Trp		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.R5106W	ENST00000346145.4	37	c.15316	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	9.925	1.213109	0.22289	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.39229	1.09;1.45;1.38;1.41	4.69	1.03	0.20045	.	0.281040	0.23125	N	0.051650	T	0.62183	0.2407	M	0.84219	2.685	0.20403	N	0.999907	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.99;0.993;0.993;0.989;0.989;0.985	T	0.54430	-0.8295	10	0.40728	T	0.16	-5.2448	11.4798	0.50318	0.0:0.0:0.4757:0.5243	.	4978;819;870;5106;5054;1811	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	W	819;870;5106;5054;1606	ENSP00000338109:R819W;ENSP00000304207:R870W;ENSP00000417498:R5106W;ENSP00000420243:R5054W	ENSP00000304207:R870W	R	-	1	2	MUC4	196966767	0.001000	0.12720	0.857000	0.33713	0.077000	0.17291	0.588000	0.23924	0.448000	0.26722	0.443000	0.29094	CGG	MUC4	-	smart_EG-like_dom		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195481096	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.597	A	A	195481096	G	A	195481096	3	1	89	1	0	0	0	0	1	0	0	0	10001	1086	38	2	950	2	MUC4	3	195481096	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	44315512	195481096	2541334	10	12991										
HTT	3064	genome.wustl.edu	37	chr4	3190799	3190799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	taggcacactgctaatgtgtCtgatccacatcttcaagtct	7	11	4	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr4:3190799C>T	ENST00000355072.5	+	40	5492	c.5347C>T	c.(5347-5349)Ctg>Ttg	p.L1783L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1783					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTAATGTGTCTGATCCACAT	0.433																																																	0													184	173	177					4																	3190799		1976	4173	6149	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5347C>T	4.37:g.3190799C>T			Q9UQB7	Silent	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L1783	ENST00000355072.5	37	c.5347	CCDS43206.1	4																																																																																			HTT	-	NULL		0.433	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	C	NM_002111		3190799	1	no_errors	ENST00000355072	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3190799	C	T	3190799	2	4	89	1	0	0	0	0	0	0	0	1	7477	912	32	1		1	HTT	4	3190799	Silent	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09		3190799	187963477	11	12992										
LIFR	3977	genome.wustl.edu	37	chr5	38481717	38481718	+	Frame_Shift_Ins	INS	-	-	A													0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	taatcgtttggtttgttctgINSaaaaaagtttgtaaaggacc							TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr5:38481717_38481718insA	ENST00000263409.4	-	20	3435_3436	c.3273_3274insT	c.(3271-3276)tttcagfs	p.Q1092fs	LIFR_ENST00000453190.2_Frame_Shift_Ins_p.Q1092fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1092					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGTTTGTTCTGAAAAAAGTTTG	0.416			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0																																										SO:0001589	frameshift_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3274dupT	5.37:g.38481723_38481723dupA	ENSP00000263409:p.Gln1092fs		Q6LCD9	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q1091fs	ENST00000263409.4	37	c.3274_3273	CCDS3927.1	5																																																																																			LIFR	-	NULL		0.416	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	NM_002310		38481718	-1	no_errors	ENST00000263409	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	38481718	-	A	38481717	7	5	89	1	0	1	1	0	0	0	0	0	8800	1299	45	0	23	0	LIFR	5	38481717	Frame_Shift_Ins	INS	-	TCGA-EA-A5ZE-01A-11D-A28B-09		38481717	142433543	12	12993										
APC	324	genome.wustl.edu	37	chr5	112178155	112178155	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ttaagccctgttgccaggcaGacatcccaaataggtgggtc	11	11	0	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr5:112178155G>A	ENST00000457016.1	+	16	7244	c.6864G>A	c.(6862-6864)caG>caA	p.Q2288Q	APC_ENST00000257430.4_Silent_p.Q2288Q|APC_ENST00000508376.2_Silent_p.Q2288Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2288	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTGCCAGGCAGACATCCCAAA	0.493		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											55	53	53					5																	112178155		2202	4300	6502	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6864G>A	5.37:g.112178155G>A			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q2288	ENST00000457016.1	37	c.6864	CCDS4107.1	5																																																																																			APC	-	pfam_APC_basic_dom		0.493	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112178155	1	no_errors	ENST00000257430	ensembl	human	known	70_37	silent	SNP	1.000	A	A	112178155	G	A	112178155	2	1	89	1	0	0	0	0	0	0	0	1	763	933	33	1		1	APC	5	112178155	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	73696438	112178155	68737105	13	12994										
HIST1H3I	8354	genome.wustl.edu	37	chr6	27839778	27839778	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ggcgcacaggttggtatcctCaaatagccccaccaggtagg	12	12	1	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:27839778C>G	ENST00000328488.2	-	1	321	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572																																																	0													106	113	111					6																	27839778		2203	4300	6503	SO:0001583	missense	8354			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.316G>C	6.37:g.27839778C>G	ENSP00000329554:p.Glu106Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E106Q	ENST00000328488.2	37	c.316	CCDS4636.1	6	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405928	0.62288	.	.	ENSG00000182572	ENST00000328488	T	0.71698	-0.59	4.12	4.12	0.48240	.	.	.	.	.	T	0.78278	0.4258	.	.	.	0.42313	D	0.992229	.	.	.	.	.	.	T	0.81391	-0.0954	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	Q	106	ENSP00000329554:E106Q	ENSP00000329554:E106Q	E	-	1	0	HIST1H3I	27947757	1.000000	0.71417	0.998000	0.56505	0.539000	0.34962	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG	HIST1H3I	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.572	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3I	HGNC	protein_coding	OTTHUMT00000043452.1	C	NM_003533		27839778	-1	no_errors	ENST00000328488	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27839778	C	G	27839778	3	3	89	1	0	0	0	0	1	0	0	0	7183	835	29	1	98	1	HIST1H3I	6	27839778	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09		27839778	143275289	14	12995										
HLA-C	3107	genome.wustl.edu	37	chr6	31239049	31239050	+	Frame_Shift_Ins	INS	-	-	C													0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	aatccttgccgtcgtaggcgINSgactggtcatacccgcggag					rs713032|rs1065406	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:31239049_31239050insC	ENST00000376228.5	-	3	433_434	c.419_420insG	c.(418-420)tccfs	p.S140fs	HLA-C_ENST00000383329.3_Frame_Shift_Ins_p.S140fs	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTCGTAGGCGGACTGGTCATA	0.708																																																	0																																										SO:0001589	frameshift_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.419_420insG	6.37:g.31239049_31239050insC	ENSP00000365402:p.Ser140fs		O02864|O02958|Q29643|Q9MY30	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.A178fs	ENST00000376228.5	37	c.531_530	CCDS34393.1	6																																																																																			HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.708	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	NM_002117		31239050	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	frame_shift_ins	INS	0.006:0.000	C	C	31239050	-	C	31239049	7	5	89	1	0	1	1	0	0	0	0	0	7217	1103	39	0	704	0	HLA-C	6	31239049	Frame_Shift_Ins	INS	-	TCGA-EA-A5ZE-01A-11D-A28B-09	3399271	31239049	139876018	15	12996	70	2								
HLA-C	3107	genome.wustl.edu	37	chr6	31239050	31239051	+	Frame_Shift_Ins	INS	-	-	T													0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	atccttgccgtcgtaggcggINSactggtcatacccgcggagg					rs41553719|rs713032	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:31239050_31239051insT	ENST00000376228.5	-	3	432_433	c.418_419insA	c.(418-420)tccfs	p.S140fs	HLA-C_ENST00000383329.3_Frame_Shift_Ins_p.S140fs	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTCGTAGGCGGACTGGTCATAC	0.703																																																	0																																										SO:0001589	frameshift_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.418_419insA	6.37:g.31239050_31239051insT	ENSP00000365402:p.Ser140fs		O02864|O02958|Q29643|Q9MY30	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.S177fs	ENST00000376228.5	37	c.530_529	CCDS34393.1	6																																																																																			HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.703	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	NM_002117		31239051	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T	T	31239051	-	T	31239050	7	5	89	1	0	1	1	0	0	0	0	0	7217	1174	41	0	705	0	HLA-C	6	31239050	Frame_Shift_Ins	INS	-	TCGA-EA-A5ZE-01A-11D-A28B-09	1	31239050	139876017	16	12997	70	2								
VPS52	6293	genome.wustl.edu	37	chr6	33237790	33237790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cctcaccgttttaagagcttCctttactaactcatcctcca	3	15	2	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:33237790C>G	ENST00000445902.2	-	3	432	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000482399.1_Intron|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	72					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTAAGAGCTTCCTTTACTAAC	0.428																																																	0													113	106	108					6																	33237790		1511	2709	4220	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.214G>C	6.37:g.33237790C>G	ENSP00000409952:p.Glu72Gln		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.E72Q	ENST00000445902.2	37	c.214	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171115	0.57584	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	L	0.51914	1.62	0.80722	D	1	P	0.37663	0.604	B	0.41299	0.353	T	0.46020	-0.9221	9	0.42905	T	0.14	-15.6572	14.5864	0.68328	0.0:1.0:0.0:0.0	.	72	Q8N1B4	VPS52_HUMAN	Q	72;50	.	ENSP00000414785:E50Q	E	-	1	0	VPS52	33345768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.220000	0.72237	2.826000	0.97356	0.579000	0.79373	GAA	VPS52	-	NULL		0.428	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	C	NM_022553		33237790	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33237790	C	G	33237790	3	3	89	1	0	0	0	0	1	0	0	0	17245	864	30	1	2029	1	VPS52	6	33237790	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	1998740	33237790	137877277	17	12998										
TDRD6	221400	genome.wustl.edu	37	chr6	46660090	46660090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gtaggcttgaccttgttaatGcaatattgccggggttgtgc	13	7	0	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:46660090G>A	ENST00000316081.6	+	1	4225	c.4225G>A	c.(4225-4227)Gca>Aca	p.A1409T	TDRD6_ENST00000544460.1_Missense_Mutation_p.A1409T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1409	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCTTGTTAATGCAATATTGCC	0.403																																																	0													204	211	208					6																	46660090		2203	4299	6502	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4225G>A	6.37:g.46660090G>A	ENSP00000346065:p.Ala1409Thr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.A1409T	ENST00000316081.6	37	c.4225	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	8.173	0.792164	0.16258	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10005	2.92;2.92	5.62	3.86	0.44501	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.464888	0.24630	N	0.036898	T	0.05044	0.0135	L	0.59912	1.85	0.09310	N	1	P;P	0.50066	0.915;0.931	P;P	0.49799	0.487;0.622	T	0.22626	-1.0211	10	0.18276	T	0.48	-17.9425	3.2407	0.06779	0.1493:0.1133:0.5705:0.1669	.	1409;1409	F5H5M3;O60522	.;TDRD6_HUMAN	T	1409	ENSP00000443299:A1409T;ENSP00000346065:A1409T	ENSP00000346065:A1409T	A	+	1	0	TDRD6	46768049	0.050000	0.20438	0.003000	0.11579	0.025000	0.11179	1.102000	0.31050	0.864000	0.35578	-0.742000	0.03525	GCA	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.403	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46660090	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46660090	G	A	46660090	3	1	89	1	0	0	0	0	1	0	0	0	15764	1319	46	4	4227	4	TDRD6	6	46660090	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	13422300	46660090	124454977	18	12999										
OGFRL1	79627	genome.wustl.edu	37	chr6	72011165	72011165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gatatgaaagttttaaatctCctcttgtaaaatttattctt	4	5	3	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:72011165C>T	ENST00000370435.4	+	7	903	c.769C>T	c.(769-771)Cct>Tct	p.P257S	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	257						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTTAAATCTCCTCTTGTAAA	0.338																																																	0													126	146	139					6																	72011165		2203	4300	6503	SO:0001583	missense	79627				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.769C>T	6.37:g.72011165C>T	ENSP00000359464:p.Pro257Ser		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.P257S	ENST00000370435.4	37	c.769	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906993	0.92107	.	.	ENSG00000119900	ENST00000370435	T	0.49720	0.77	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	T	0.59241	-0.7491	10	0.54805	T	0.06	-19.4261	20.5948	0.99439	0.0:1.0:0.0:0.0	.	257	Q5TC84	OGRL1_HUMAN	S	257	ENSP00000359464:P257S	ENSP00000359464:P257S	P	+	1	0	OGFRL1	72067886	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	CCT	OGFRL1	-	pfam_OGF_rcpt		0.338	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	C	NM_024576		72011165	1	no_errors	ENST00000370435	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72011165	C	T	72011165	3	4	89	1	0	0	0	0	1	0	0	0	10868	855	30	1	795	1	OGFRL1	6	72011165	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	25351075	72011165	99103902	19	13000										
HDAC2	3066	genome.wustl.edu	37	chr6	114274456	114274456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cttaccctcaagtctcctgtGccaggaaagtattccccata	6	14	2	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:114274456G>A	ENST00000519065.1	-	6	1000	c.624C>T	c.(622-624)ggC>ggT	p.G208G	HDAC2_ENST00000398283.2_Silent_p.G302G|HDAC2_ENST00000368632.2_Silent_p.G178G|HDAC2_ENST00000519108.1_Silent_p.G178G			Q92769	HDAC2_HUMAN	histone deacetylase 2	208	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	AGTCTCCTGTGCCAGGAAAGT	0.353																																																	0													167	156	159					6																	114274456		1848	4086	5934	SO:0001819	synonymous_variant	3066			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.624C>T	6.37:g.114274456G>A			B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse	p.G302	ENST00000519065.1	37	c.906	CCDS43493.2	6																																																																																			HDAC2	-	pfam_His_deacetylse_dom		0.353	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	HGNC	protein_coding	OTTHUMT00000041909.2	G			114274456	-1	no_errors	ENST00000398283	ensembl	human	known	70_37	silent	SNP	0.967	A	A	114274456	G	A	114274456	2	1	89	1	0	0	0	0	0	0	0	1	7027	1306	46	4		4	HDAC2	6	114274456	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	42263291	114274456	56840611	20	13001										
GJA1	2697	genome.wustl.edu	37	chr6	121768443	121768443	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	aaggtgaaaatgcgagggggGttgctgcgaacctacatcat	14	7	1	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:121768443G>T	ENST00000282561.3	+	2	607	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	150					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGCGAGGGGGGTTGCTGCGAA	0.448																																																	0													123	116	118					6																	121768443		2203	4300	6503	SO:0001819	synonymous_variant	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.450G>T	6.37:g.121768443G>T			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.G150	ENST00000282561.3	37	c.450	CCDS5123.1	6																																																																																			GJA1	-	NULL		0.448	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	G	NM_000165		121768443	1	no_errors	ENST00000282561	ensembl	human	known	70_37	silent	SNP	0.590	T	T	121768443	G	T	121768443	2	4	89	1	0	0	0	0	0	0	0	1	6419	1248	44	4		4	GJA1	6	121768443	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	7493987	121768443	49346624	21	13002										
CCDC28A	25901	genome.wustl.edu	37	chr6	139095016	139095016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ctttgcgggttgcggaagggGgccccaatacccttcttctt	12	12	2	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:139095016G>A	ENST00000332797.6	+	1	360	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	69										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGCGGAAGGGGGCCCCAATAC	0.632																																																	0													61	76	71					6																	139095016		2203	4300	6503	SO:0001583	missense	25901			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.205G>A	6.37:g.139095016G>A	ENSP00000332716:p.Gly69Ser		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NULL	p.G69S	ENST00000332797.6	37	c.205	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625891	0.66901	.	.	ENSG00000024862	ENST00000332797	T	0.23754	1.89	4.37	1.55	0.23275	.	1.189610	0.06297	N	0.700174	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.41270	-0.9518	10	0.28530	T	0.3	-2.0846	3.6796	0.08305	0.2067:0.0:0.5906:0.2027	.	69	Q8IWP9	CC28A_HUMAN	S	69	ENSP00000332716:G69S	ENSP00000332716:G69S	G	+	1	0	CCDC28A	139136709	0.321000	0.24625	0.277000	0.24703	0.820000	0.46376	0.548000	0.23314	0.334000	0.23590	0.561000	0.74099	GGC	CCDC28A	-	NULL		0.632	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	HGNC	protein_coding	OTTHUMT00000042444.1	G	NM_015439		139095016	1	no_errors	ENST00000332797	ensembl	human	known	70_37	missense	SNP	0.266	A	A	139095016	G	A	139095016	3	1	89	1	0	0	0	0	1	0	0	0	2807	1232	43	4	207	4	CCDC28A	6	139095016	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	17326573	139095016	32020051	22	13003										
C7orf27	221927	genome.wustl.edu	37	chr7	2579484	2579484	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ggggtcttgggtgagctcagGagccacctgagcgtggcctg	18	10	2	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:2579484G>C	ENST00000340611.4	-	11	1690	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	478					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTGAGCTCAGGAGCCACCTGA	0.652																																																	0													28	31	30					7																	2579484		2199	4299	6498	SO:0001819	synonymous_variant	221927			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1434C>G	7.37:g.2579484G>C			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L478	ENST00000340611.4	37	c.1434	CCDS5334.1	7																																																																																			BRAT1	-	superfamily_ARM-type_fold		0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	G	NM_152743		2579484	-1	no_errors	ENST00000340611	ensembl	human	known	70_37	silent	SNP	0.000	C	C	2579484	G	C	2579484	2	2	89	1	0	0	0	0	0	0	0	1	2387	1161	41	1		1	C7orf27	7	2579484	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		2579484	156559179	23	13004										
SCRN1	9805	genome.wustl.edu	37	chr7	29994813	29994813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	acctgaccagatccatccccAgcaaggcttctatctcggca	7	16	2	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:29994813A>G	ENST00000426154.1	-	3	499	c.323T>C	c.(322-324)cTg>cCg	p.L108P	SCRN1_ENST00000434476.2_Missense_Mutation_p.L128P|SCRN1_ENST00000416113.2_5'UTR|SCRN1_ENST00000425819.2_Missense_Mutation_p.L40P|SCRN1_ENST00000409570.1_Missense_Mutation_p.L108P|SCRN1_ENST00000409497.1_Missense_Mutation_p.L108P|SCRN1_ENST00000242059.5_Missense_Mutation_p.L108P|SCRN1_ENST00000494620.1_5'UTR	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	108					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ATCCATCCCCAGCAAGGCTTC	0.488																																																	0													122	112	115					7																	29994813		2203	4300	6503	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.323T>C	7.37:g.29994813A>G	ENSP00000409068:p.Leu108Pro		A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	pfam_Peptidase_C69	p.L128P	ENST00000426154.1	37	c.383	CCDS5422.1	7	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101680	0.76983	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T;T	0.47869	2.03;2.03;2.03;2.03;2.03;2.03;1.09;0.83	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000016	T	0.74997	0.3790	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.99;1.0;0.99	T	0.81138	-0.1069	9	.	.	.	-11.3346	14.79	0.69833	1.0:0.0:0.0:0.0	.	128;40;108	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	P	108;108;40;108;128;108;108;108	ENSP00000242059:L108P;ENSP00000409068:L108P;ENSP00000414245:L40P;ENSP00000386872:L108P;ENSP00000388942:L128P;ENSP00000413184:L108P;ENSP00000406289:L108P;ENSP00000387052:L108P	.	L	-	2	0	SCRN1	29961338	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	8.781000	0.91805	2.186000	0.69663	0.455000	0.32223	CTG	SCRN1	-	pfam_Peptidase_C69		0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN1	HGNC	protein_coding	OTTHUMT00000214231.2	A	NM_014766		29994813	-1	no_errors	ENST00000434476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29994813	A	G	29994813	3	3	89	1	0	0	0	0	1	0	0	0	13968	188	7	5	945	5	SCRN1	7	29994813	Missense_Mutation	SNP	A	TCGA-EA-A5ZE-01A-11D-A28B-09	27415329	29994813	129143850	24	13005										
TRIM73	375593	genome.wustl.edu	37	chr7	75028599	75028599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cggtcacgcccgtctccaccGtctgcagccgcatgaaggtg	12	16	3	1	rs199603365		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:75028599G>A	ENST00000437796.1	+	1	401	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM73_ENST00000447409.2_Missense_Mutation_p.V128I|TRIM73_ENST00000323819.3_Missense_Mutation_p.V128I|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000430211.1_Missense_Mutation_p.V128I			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTCTCCACCGTCTGCAGCCG	0.672																																																	0													1	2	2					7																	75028599		319	1397	1716	SO:0001583	missense	375593			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18162	protein-coding gene	gene with protein product		612549	"tripartite motif-containing 50B", "tripartite motif-containing 73"	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.382G>A	7.37:g.75028599G>A	ENSP00000417040:p.Val128Ile		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000437796.1	37	c.382	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960623	0.53400	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.31	2.31	0.28768	.	0.119478	0.36519	N	0.002554	T	0.32912	0.0845	N	0.24115	0.695	0.25573	N	0.986874	P;P	0.50156	0.932;0.932	B;B	0.36845	0.234;0.234	T	0.32295	-0.9912	10	0.46703	T	0.11	.	12.185	0.54234	0.0:0.0:1.0:0.0	.	128;128	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	I	128	ENSP00000318615:V128I;ENSP00000410121:V128I;ENSP00000407135:V128I;ENSP00000417040:V128I	ENSP00000318615:V128I	V	+	1	0	TRIM73	74866535	0.378000	0.25114	1.000000	0.80357	0.868000	0.49771	2.680000	0.46918	1.612000	0.50221	0.400000	0.26472	GTC	TRIM73	-	NULL		0.672	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	G			75028599	1	no_errors	ENST00000323819	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75028599	G	A	75028599	3	1	89	1	0	0	0	0	1	0	0	0	16577	1145	40	2	384	2	TRIM73	7	75028599	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	45033786	75028599	84110064	25	13006										
CCDC132	55610	genome.wustl.edu	37	chr7	92905564	92905564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ttggttatgtggaactatgtGcaggaaacacagacacaaaa	10	6	0	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:92905564G>A	ENST00000305866.5	+	12	1017	c.889G>A	c.(889-891)Gca>Aca	p.A297T	CCDC132_ENST00000251739.5_Missense_Mutation_p.A297T|CCDC132_ENST00000541136.1_Missense_Mutation_p.A108T|CCDC132_ENST00000317751.6_Missense_Mutation_p.A28T|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.A267T	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	297						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAACTATGTGCAGGAAACAC	0.368																																																	0													178	160	166					7																	92905564		2203	4300	6503	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.889G>A	7.37:g.92905564G>A	ENSP00000307666:p.Ala297Thr		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.A297T	ENST00000305866.5	37	c.889	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794613	0.90453	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	T	0.45668	0.89	5.59	4.7	0.59300	Vacuolar protein sorting-associated protein 54 (1);	0.055522	0.64402	D	0.000001	T	0.52853	0.1760	L	0.36672	1.1	0.80722	D	1	D;D;B	0.67145	0.996;0.99;0.307	D;P;B	0.79784	0.993;0.836;0.077	T	0.45614	-0.9249	10	0.21014	T	0.42	-10.949	16.1205	0.81351	0.0:0.0:0.8651:0.1349	.	267;297;297	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	T	297;297;267;108;28	ENSP00000325582:A28T	ENSP00000251739:A297T	A	+	1	0	CCDC132	92743500	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.909000	0.87444	1.481000	0.48307	0.650000	0.86243	GCA	CCDC132	-	pfam_Vacuolar_sorting-assoc_54		0.368	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	G	NM_017667		92905564	1	no_errors	ENST00000305866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92905564	G	A	92905564	3	1	89	1	0	0	0	0	1	0	0	0	2772	1319	46	4	935	4	CCDC132	7	92905564	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	17876965	92905564	66233099	26	13007										
CALU	813	genome.wustl.edu	37	chr7	128394425	128394425	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ggatttacgaggatgtagagCgacagtggaaggggcatgac	17	5	0	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:128394425C>T	ENST00000249364.4	+	3	433	c.331C>T	c.(331-333)Cga>Tga	p.R111*	CALU_ENST00000535623.1_Nonsense_Mutation_p.R119*|CALU_ENST00000479257.1_Nonsense_Mutation_p.R119*|CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000535011.2_Nonsense_Mutation_p.R111*|CALU_ENST00000538546.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GGATGTAGAGCGACAGTGGAA	0.483																																																	0													135	117	123					7																	128394425		2203	4300	6503	SO:0001587	stop_gained	813			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.331C>T	7.37:g.128394425C>T	ENSP00000249364:p.Arg111*		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Nonsense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R111*	ENST00000249364.4	37	c.331	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	C	46	12.174596	0.99643	.	.	ENSG00000128595	ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.	.	.	5.96	5.96	0.96718	.	0.756097	0.12739	N	0.443202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3347	17.9055	0.88917	0.0:1.0:0.0:0.0	.	.	.	.	X	119;111;111;111;119	.	ENSP00000249364:R111X	R	+	1	2	CALU	128181661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.945000	0.56637	2.827000	0.97445	0.655000	0.94253	CGA	CALU	-	pfscan_EF_HAND_2		0.483	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	HGNC	protein_coding	OTTHUMT00000350533.1	C	NM_001219		128394425	1	no_errors	ENST00000249364	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	128394425	C	T	128394425	4	4	89	1	0	0	0	0	0	1	0	0	2599	760	27	2	337	2	CALU	7	128394425	Nonsense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	35488861	128394425	30744238	27	13008										
PRSS55	203074	genome.wustl.edu	37	chr8	10395994	10395995	+	Frame_Shift_Ins	INS	-	-	G													0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tctgcccacagggtgacagtINSggggggcctctggtctgcac							TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:10395994_10395995insG	ENST00000328655.3	+	5	790_791	c.750_751insG	c.(751-753)gggfs	p.G251fs	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGGGTGACAGTGGGGGGCCTCT	0.589																																																	0									,	0,4264		0,0,2132					,	-1.2	1			52	1,8253		0,1,4126	no	frameshift,intron	PRSS55	NM_198464.3,NM_001197020.1	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.756dupG	8.37:g.10396000_10396000dupG	ENSP00000333003:p.Gly251fs		E5RJX5	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P252fs	ENST00000328655.3	37	c.750_751	CCDS5976.1	8																																																																																			PRSS55	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.589	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	-	NM_198464		10395995	1	no_errors	ENST00000328655	ensembl	human	known	70_37	frame_shift_ins	INS	0.991:1.000	G	G	10395995	-	G	10395994	7	5	89	1	0	1	1	0	0	0	0	0	12661	1693	59	0	768	0	PRSS55	8	10395994	Frame_Shift_Ins	INS	-	TCGA-EA-A5ZE-01A-11D-A28B-09		10395994	135968028	28	13009										
PMP2	5375	genome.wustl.edu	37	chr8	82357056	82357056	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	aaacattaaagattaccttgGtctttctattgtcagctgtg	7	7	3	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:82357056G>C	ENST00000256103.2	-	2	378	c.242C>G	c.(241-243)aCc>aGc	p.T81S	PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	81					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GATTACCTTGGTCTTTCTATT	0.383																																																	0													114	113	113					8																	82357056		2203	4300	6503	SO:0001583	missense	5375			X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.242C>G	8.37:g.82357056G>C	ENSP00000256103:p.Thr81Ser		Q6FHL4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.T81S	ENST00000256103.2	37	c.242	CCDS6229.1	8	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409203	0.25378	.	.	ENSG00000147588	ENST00000256103	T	0.07800	3.16	5.68	5.68	0.88126	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.510114	0.24024	N	0.042246	T	0.14356	0.0347	M	0.77103	2.36	0.30387	N	0.781331	B	0.09022	0.002	B	0.13407	0.009	T	0.01561	-1.1324	10	0.48119	T	0.1	.	13.4727	0.61290	0.0806:0.0:0.9194:0.0	.	81	P02689	MYP2_HUMAN	S	81	ENSP00000256103:T81S	ENSP00000256103:T81S	T	-	2	0	PMP2	82519611	0.039000	0.19947	0.735000	0.30896	0.560000	0.35617	1.306000	0.33505	2.678000	0.91216	0.585000	0.79938	ACC	PMP2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.383	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP2	HGNC	protein_coding	OTTHUMT00000379365.1	G	NM_002677		82357056	-1	no_errors	ENST00000256103	ensembl	human	known	70_37	missense	SNP	0.186	C	C	82357056	G	C	82357056	3	2	89	1	0	0	0	0	1	0	0	0	12162	1261	44	4	168	4	PMP2	8	82357056	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	71961062	82357056	64006966	29	13010										
GDF6	392255	genome.wustl.edu	37	chr8	97172815	97172815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gcccttggtggaacccagctCggcggacgacgaggaggatg	17	11	0	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:97172815C>T	ENST00000287020.5	-	1	205	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	36					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GAACCCAGCTCGGCGGACGAC	0.647																																																	0													51	59	56					8																	97172815		2202	4300	6502	SO:0001583	missense	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.106G>A	8.37:g.97172815C>T	ENSP00000287020:p.Glu36Lys		Q6PI58	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.E36K	ENST00000287020.5	37	c.106	CCDS34926.1	8	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820414	0.50633	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.80480	-1.38	4.34	2.35	0.29111	.	3.036110	0.02198	U	0.062045	T	0.64114	0.2569	N	0.14661	0.345	0.24738	N	0.993056	B	0.12630	0.006	B	0.09377	0.004	T	0.55823	-0.8080	10	0.02654	T	1	.	7.2592	0.26193	0.1797:0.4701:0.3501:0.0	.	36	Q6KF10	GDF6_HUMAN	K	36	ENSP00000287020:E36K	ENSP00000287020:E36K	E	-	1	0	GDF6	97241991	0.603000	0.26924	0.858000	0.33744	0.896000	0.52359	1.156000	0.31712	0.788000	0.33755	0.514000	0.50259	GAG	GDF6	-	NULL		0.647	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	C	NM_001001557		97172815	-1	no_errors	ENST00000287020	ensembl	human	known	70_37	missense	SNP	0.855	T	T	97172815	C	T	97172815	3	4	89	1	0	0	0	0	1	0	0	0	6336	893	31	1	1269	1	GDF6	8	97172815	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	14815759	97172815	49191207	30	13011										
KCNK9	51305	genome.wustl.edu	37	chr8	140630966	140630966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tacataaagctaaaggccacGtagagcggcttcttctgcag	10	10	2	1	rs111826894		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:140630966G>A	ENST00000520439.1	-	2	723	c.660C>T	c.(658-660)taC>taT	p.Y220Y	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.Y220Y	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	220					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TAAAGGCCACGTAGAGCGGCT	0.557																																																	0													57	61	60					8																	140630966		2203	4300	6503	SO:0001819	synonymous_variant	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.660C>T	8.37:g.140630966G>A			Q2M290|Q540F2	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.Y220	ENST00000520439.1	37	c.660	CCDS6377.1	8																																																																																			KCNK9	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK		0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140630966	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140630966	G	A	140630966	2	1	89	1	0	0	0	0	0	0	0	1	8092	1140	40	2		2	KCNK9	8	140630966	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	43458151	140630966	5733056	31	13012										
GOLM1	51280	genome.wustl.edu	37	chr9	88692498	88692498	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	accctgccttccagctccatGatccgtgtctacaaggagac	8	15	1	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:88692498G>A	ENST00000388712.3	-	3	306	c.138C>T	c.(136-138)atC>atT	p.I46I	GOLM1_ENST00000388711.3_Silent_p.I46I|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	46					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCAGCTCCATGATCCGTGTCT	0.627																																																	0													75	75	75					9																	88692498		2203	4300	6503	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.138C>T	9.37:g.88692498G>A			Q6IAF4|Q9NRB9	Silent	SNP	NULL	p.I46	ENST00000388712.3	37	c.138	CCDS35054.1	9																																																																																			GOLM1	-	NULL		0.627	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	G	NM_177937		88692498	-1	no_errors	ENST00000388711	ensembl	human	known	70_37	silent	SNP	0.049	A	A	88692498	G	A	88692498	2	1	89	1	0	0	0	0	0	0	0	1	6586	1280	45	1		1	GOLM1	9	88692498	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		88692498	52520933	32	13013										
SVIL	6840	genome.wustl.edu	37	chr10	29819538	29819538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cacgtcagcacagcttacccTgaaaagcaacctcttggcgg	9	14	2	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:29819538T>C	ENST00000355867.4	-	11	2856	c.2104A>G	c.(2104-2106)Agg>Ggg	p.R702G	SVIL_ENST00000375400.3_Missense_Mutation_p.R308G|SVIL_ENST00000375398.2_Missense_Mutation_p.R702G	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	702					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGCTTACCCTGAAAAGCAAC	0.488																																																	0													197	181	186					10																	29819538		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2104A>G	10.37:g.29819538T>C	ENSP00000348128:p.Arg702Gly		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.R702G	ENST00000355867.4	37	c.2104	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410911	0.83340	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.66460	-0.21;-0.21;-0.21	5.41	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80063	-0.1539	9	.	.	.	-27.9244	12.7601	0.57359	0.0:0.0:0.1372:0.8628	.	308;702	O95425-2;O95425	.;SVIL_HUMAN	G	308;702;702	ENSP00000364549:R308G;ENSP00000364547:R702G;ENSP00000348128:R702G	.	R	-	1	2	SVIL	29859544	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.035000	0.49759	0.974000	0.38366	0.533000	0.62120	AGG	SVIL	-	NULL		0.488	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	T			29819538	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29819538	T	C	29819538	3	2	89	1	0	0	0	0	1	0	0	0	15451	1579	55	5	4652	5	SVIL	10	29819538	Missense_Mutation	SNP	T	TCGA-EA-A5ZE-01A-11D-A28B-09		29819538	105715209	33	13014										
ANKRD30A	91074	genome.wustl.edu	37	chr10	37438770	37438770	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ttgaagaatgaacaaacattGagagcaggtaaatttttcaa	8	4	1	4			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:37438770G>A	ENST00000602533.1	+	11	1569	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	ANKRD30A_ENST00000361713.1_Silent_p.L490L|ANKRD30A_ENST00000374660.1_Silent_p.L490L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	546					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAAACATTGAGAGCAGGTA	0.313																																																	0													84	78	80					10																	37438770		1808	4059	5867	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1470G>A	10.37:g.37438770G>A			Q5W025	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L490	ENST00000602533.1	37	c.1470		10																																																																																			ANKRD30A	-	NULL		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	G	NM_052997		37438770	1	no_errors	ENST00000361713	ensembl	human	known	70_37	silent	SNP	0.001	A	A	37438770	G	A	37438770	2	1	89	1	0	0	0	0	0	0	0	1	658	1281	45	1		1	ANKRD30A	10	37438770	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	7619232	37438770	98095977	34	13015										
TET1	80312	genome.wustl.edu	37	chr10	70404465	70404465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tattttacaggcagattttgAcaacaaaccagtaaatggcc	7	8	0	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:70404465A>G	ENST00000373644.4	+	4	2188	c.1979A>G	c.(1978-1980)gAc>gGc	p.D660G		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	660	Sufficient for binding to genomic CpG islands.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCAGATTTTGACAACAAACCA	0.328																																																	0													35	36	36					10																	70404465		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1979A>G	10.37:g.70404465A>G	ENSP00000362748:p.Asp660Gly		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.D660G	ENST00000373644.4	37	c.1979	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707580	0.30322	.	.	ENSG00000138336	ENST00000373644	T	0.08720	3.06	5.93	-0.889	0.10580	.	1.691840	0.03246	N	0.181139	T	0.06554	0.0168	L	0.27053	0.805	0.19300	N	0.999974	B	0.06786	0.001	B	0.04013	0.001	T	0.37502	-0.9703	10	0.34782	T	0.22	.	4.5273	0.11988	0.5283:0.0:0.1311:0.3406	.	660	Q8NFU7	TET1_HUMAN	G	660	ENSP00000362748:D660G	ENSP00000362748:D660G	D	+	2	0	TET1	70074471	0.997000	0.39634	0.678000	0.29963	0.726000	0.41606	1.658000	0.37376	-0.397000	0.07691	-0.301000	0.09380	GAC	TET1	-	NULL		0.328	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	A	NM_030625		70404465	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.941	G	G	70404465	A	G	70404465	3	3	89	1	0	0	0	0	1	0	0	0	15799	275	10	5	1989	5	TET1	10	70404465	Missense_Mutation	SNP	A	TCGA-EA-A5ZE-01A-11D-A28B-09	32965695	70404465	65130282	35	13016										
FAM160A2	84067	genome.wustl.edu	37	chr11	6239972	6239972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ggcttctggctcagcataacGtggttacatggaacaagata	11	8	2	1	rs368609593	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr11:6239972G>A	ENST00000449352.2	-	8	1556	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	FAM160A2_ENST00000524416.1_Silent_p.H431H|FAM160A2_ENST00000265978.4_Silent_p.H431H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	431					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCATAACGTGGTTACATG	0.517													G|||	2	0.000399361	0	0	5008	,	,		20654	0		0.001	False		,,,				2504	0.001																0								G	,	2,4400	4.2+/-10.8	0,2,2199	139	119	126		1293,1293	-1.4	1	11		126	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	FAM160A2	NM_001098794.1,NM_032127.3	,	0,2,6495	AA,AG,GG		0.0,0.0454,0.0154	,	431/973,431/987	6239972	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1293C>T	11.37:g.6239972G>A			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	pfam_RetinoicA-induced_16-like	p.H431	ENST00000449352.2	37	c.1293	CCDS44530.1	11																																																																																			FAM160A2	-	NULL		0.517	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	G	NM_032127		6239972	-1	no_errors	ENST00000265978	ensembl	human	known	70_37	silent	SNP	0.936	A	A	6239972	G	A	6239972	2	1	89	1	0	0	0	0	0	0	0	1	5484	1136	40	2		2	FAM160A2	11	6239972	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		6239972	128766544	36	13017										
CNTN1	1272	genome.wustl.edu	37	chr12	41316209	41316209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	acgggatggtcagaagcactGaagcaaccctgagctttgga	13	9	1	3			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr12:41316209G>A	ENST00000551295.2	+	5	496	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CNTN1_ENST00000347616.1_Missense_Mutation_p.E127K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E127K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E127K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E116K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E127K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	127	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGAAGCACTGAAGCAACCCT	0.403																																																	0													111	100	103					12																	41316209		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.379G>A	12.37:g.41316209G>A	ENSP00000447006:p.Glu127Lys		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E127K	ENST00000551295.2	37	c.379	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.059552	0.93846	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.65	4.75	0.60458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048893	0.85682	N	0.000000	T	0.28466	0.0704	L	0.56340	1.77	0.54753	D	0.999982	D;D;D	0.67145	0.996;0.979;0.983	P;P;P	0.60886	0.788;0.81;0.88	T	0.01290	-1.1394	10	0.36615	T	0.2	.	14.7892	0.69827	0.0696:0.0:0.9304:0.0	.	127;116;127	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	127;127;127;127;127;116	ENSP00000448004:E127K;ENSP00000447006:E127K;ENSP00000448653:E127K;ENSP00000325660:E127K;ENSP00000353213:E127K;ENSP00000261160:E116K	ENSP00000325660:E127K	E	+	1	0	CNTN1	39602476	1.000000	0.71417	0.835000	0.33067	0.963000	0.63663	9.230000	0.95299	1.523000	0.49018	0.585000	0.79938	GAA	CNTN1	-	smart_Ig_sub,pfscan_Ig-like		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	G	NM_001843		41316209	1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	0.997	A	A	41316209	G	A	41316209	3	1	89	1	0	0	0	0	1	0	0	0	3645	1291	45	1	393	1	CNTN1	12	41316209	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		41316209	92535686	37	13018										
RB1	5925	genome.wustl.edu	37	chr13	48953743	48953743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tttgtagcgatacaaacttgGagttcgcttgtattaccgag	10	7	0	0	rs587778847		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr13:48953743G>T	ENST00000267163.4	+	14	1484	c.1346G>T	c.(1345-1347)gGa>gTa	p.G449V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	449	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.G449fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TACAAACTTGGAGTTCGCTTG	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|central_nervous_system(3)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CD034936|CM030504	RB1	D|M							21	22	21					13																	48953743		2201	4300	6501	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1346G>T	13.37:g.48953743G>T	ENSP00000267163:p.Gly449Val		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.G449V	ENST00000267163.4	37	c.1346	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662210	0.88251	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88586	-2.4	5.74	5.74	0.90152	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.93301	0.7865	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93459	0.6809	10	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	449	P06400	RB_HUMAN	V	428;449	ENSP00000267163:G449V	ENSP00000267163:G449V	G	+	2	0	RB1	47851744	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.953000	0.93041	2.707000	0.92482	0.557000	0.71058	GGA	RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			48953743	1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48953743	G	T	48953743	3	4	89	1	0	0	0	0	1	0	0	0	13128	1174	41	3	1400	3	RB1	13	48953743	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		48953743	66216135	38	13019										
RB1	5925	genome.wustl.edu	37	chr13	48955492	48955492	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	aaagtgatcgaaagttttatCaaagcagaaggcaacttgac	9	6	1	3			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr13:48955492C>T	ENST00000267163.4	+	17	1746	c.1608C>T	c.(1606-1608)atC>atT	p.I536I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	536	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAAGTTTTATCAAAGCAGAAG	0.353		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											71	67	68					13																	48955492		2203	4299	6502	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1608C>T	13.37:g.48955492C>T			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.I536	ENST00000267163.4	37	c.1608	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.353	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			48955492	1	no_errors	ENST00000267163	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48955492	C	T	48955492	2	4	89	1	0	0	0	0	0	0	0	1	13128	816	29	1		1	RB1	13	48955492	Silent	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	1749	48955492	66214386	39	13020										
MKRN3	7681	genome.wustl.edu	37	chr15	23811385	23811385	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gctgcgcacatcgagcccccGactcaggaagtggcggaagc	14	14	1	0	rs536725835		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr15:23811385G>A	ENST00000314520.3	+	1	932	c.456G>A	c.(454-456)ccG>ccA	p.P152P	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	152					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGAGCCCCCGACTCAGGAAG	0.637																																																	0													27	29	29					15																	23811385		2203	4300	6503	SO:0001819	synonymous_variant	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.456G>A	15.37:g.23811385G>A				Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.P152	ENST00000314520.3	37	c.456	CCDS10013.1	15																																																																																			MKRN3	-	NULL		0.637	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	G	NM_005664		23811385	1	no_errors	ENST00000314520	ensembl	human	known	70_37	silent	SNP	0.003	A	A	23811385	G	A	23811385	2	1	89	1	0	0	0	0	0	0	0	1	9631	1045	37	1		1	MKRN3	15	23811385	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		23811385	78720007	40	13021										
NDN	4692	genome.wustl.edu	37	chr15	23931620	23931620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cggctccacgtatgggacgcGctggtacttcaggtaattca	12	11	2	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr15:23931620G>A	ENST00000331837.4	-	1	830	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R249C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TATGGGACGCGCTGGTACTTC	0.587									Prader-Willi syndrome																																								1	Substitution - Missense(1)	endometrium(1)											40	38	39					15																	23931620		2202	4300	6502	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.745C>T	15.37:g.23931620G>A	ENSP00000332643:p.Arg249Cys		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R249C	ENST00000331837.4	37	c.745	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597503	0.66332	.	.	ENSG00000182636	ENST00000331837	T	0.05258	3.47	3.5	3.5	0.40072	.	0.148295	0.41194	D	0.000936	T	0.15522	0.0374	L	0.48362	1.52	0.44937	D	0.997954	D	0.76494	0.999	D	0.67900	0.954	T	0.00379	-1.1777	10	0.87932	D	0	.	10.8182	0.46589	0.0:0.0:1.0:0.0	.	249	Q99608	NECD_HUMAN	C	249	ENSP00000332643:R249C	ENSP00000332643:R249C	R	-	1	0	NDN	21482713	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	4.325000	0.59234	2.258000	0.74832	0.561000	0.74099	CGC	NDN	-	pfam_MAGE,pfscan_MAGE		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	G	NM_002487		23931620	-1	no_errors	ENST00000331837	ensembl	human	known	70_37	missense	SNP	0.995	A	A	23931620	G	A	23931620	3	1	89	1	0	0	0	0	1	0	0	0	10271	1087	38	2	224	2	NDN	15	23931620	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	120235	23931620	78599772	41	13022										
TMCO5A	145942	genome.wustl.edu	37	chr15	38229077	38229077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tgagatcattcagacgcgggGcctggtggaagatgaagagt	16	6	2	5			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr15:38229077G>A	ENST00000319669.4	+	3	272	c.170G>A	c.(169-171)gGc>gAc	p.G57D	TMCO5A_ENST00000540944.1_Missense_Mutation_p.G57D|TMCO5A_ENST00000558158.1_Missense_Mutation_p.G57D|TMCO5A_ENST00000559502.1_Missense_Mutation_p.G57D	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	57				G -> D (in Ref. 1; BAC04065). {ECO:0000305}.		integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CAGACGCGGGGCCTGGTGGAA	0.512																																																	0													91	88	89					15																	38229077		2200	4297	6497	SO:0001583	missense	145942			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.170G>A	15.37:g.38229077G>A	ENSP00000327234:p.Gly57Asp		Q8NA63	Missense_Mutation	SNP	NULL	p.G57D	ENST00000319669.4	37	c.170	CCDS10046.1	15	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.960843	0.00465	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	4.42	0.53409	.	0.638898	0.15433	N	0.262607	T	0.07638	0.0192	N	0.00605	-1.335	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33979	-0.9847	9	0.02654	T	1	-5.6368	6.9795	0.24696	0.8991:0.0:0.1009:0.0	.	57;57	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	D	57	.	ENSP00000327234:G57D	G	+	2	0	TMCO5A	36016369	0.070000	0.21116	0.013000	0.15412	0.007000	0.05969	2.442000	0.44873	1.031000	0.39867	-0.254000	0.11334	GGC	TMCO5A	-	NULL		0.512	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	HGNC	protein_coding	OTTHUMT00000252012.1	G	NM_152453		38229077	1	no_errors	ENST00000319669	ensembl	human	known	70_37	missense	SNP	0.015	A	A	38229077	G	A	38229077	3	1	89	1	0	0	0	0	1	0	0	0	16029	1203	42	4	176	4	TMCO5A	15	38229077	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	14297457	38229077	64302315	42	13023										
SSTR5	6755	genome.wustl.edu	37	chr16	1129641	1129641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ggtggtggtgctggtgtttgCgggatgttggctgcccttct	18	7	1	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:1129641C>T	ENST00000293897.4	+	1	861	c.773C>T	c.(772-774)gCg>gTg	p.A258V	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.A258V|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	258					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTGGTGTTTGCGGGATGTTGG	0.682																																																	0													228	202	210					16																	1129641		2195	4297	6492	SO:0001583	missense	6755			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.773C>T	16.37:g.1129641C>T	ENSP00000293897:p.Ala258Val		P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.A258V	ENST00000293897.4	37	c.773	CCDS10429.1	16	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.399247	0.01165	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.70164	-0.46;-0.46	4.76	-1.81	0.07882	GPCR, rhodopsin-like superfamily (1);	0.134582	0.49305	N	0.000151	T	0.28134	0.0694	N	0.01649	-0.78	0.23510	N	0.997523	B	0.06786	0.001	B	0.08055	0.003	T	0.36504	-0.9745	10	0.02654	T	1	.	9.6906	0.40125	0.0:0.3745:0.0:0.6255	.	258	P35346	SSR5_HUMAN	V	258	ENSP00000380680:A258V;ENSP00000293897:A258V	ENSP00000293897:A258V	A	+	2	0	SSTR5	1069642	1.000000	0.71417	0.471000	0.27229	0.094000	0.18550	1.518000	0.35877	-0.727000	0.04888	-0.254000	0.11334	GCG	SSTR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.682	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1	C			1129641	1	no_errors	ENST00000293897	ensembl	human	known	70_37	missense	SNP	0.990	T	T	1129641	C	T	1129641	3	4	89	1	0	0	0	0	1	0	0	0	15231	768	27	2	775	2	SSTR5	16	1129641	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09		1129641	89225112	43	13024										
GRIN2A	2903	genome.wustl.edu	37	chr16	9916231	9916231	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tttctctccgtgcttccattAggcactgtcccaaatcgaaa	6	13	1	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:9916231A>G	ENST00000396573.2	-	11	2367	c.2058T>C	c.(2056-2058)ccT>ccC	p.P686P	GRIN2A_ENST00000562109.1_Silent_p.P686P|GRIN2A_ENST00000330684.3_Silent_p.P686P|GRIN2A_ENST00000535259.1_Silent_p.P529P|GRIN2A_ENST00000404927.2_Silent_p.P686P|GRIN2A_ENST00000396575.2_Silent_p.P686P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	686					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTTCCATTAGGCACTGTCC	0.448																																																	0													135	115	122					16																	9916231		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2058T>C	16.37:g.9916231A>G			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P686	ENST00000396573.2	37	c.2058	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.448	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	A			9916231	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	0.708	G	G	9916231	A	G	9916231	2	3	89	1	0	0	0	0	0	0	0	1	6799	407	15	5		5	GRIN2A	16	9916231	Silent	SNP	A	TCGA-EA-A5ZE-01A-11D-A28B-09	8786590	9916231	80438522	44	13025										
IRX6	79190	genome.wustl.edu	37	chr16	55363210	55363210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gtagtgcagtgccagtacccGtctggagcagaaggtagtgg	16	8	1	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:55363210G>A	ENST00000290552.7	+	5	2652	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	440					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCAGTACCCGTCTGGAGCAG	0.627																																																	0													33	39	37					16																	55363210		2197	4297	6494	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1320G>A	16.37:g.55363210G>A			B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.P440	ENST00000290552.7	37	c.1320	CCDS32449.1	16																																																																																			IRX6	-	NULL		0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	G	NM_024335		55363210	1	no_errors	ENST00000290552	ensembl	human	known	70_37	silent	SNP	0.002	A	A	55363210	G	A	55363210	2	1	89	1	0	0	0	0	0	0	0	1	7868	1132	40	2		2	IRX6	16	55363210	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	45446979	55363210	34991543	45	13026										
HSD11B2	3291	genome.wustl.edu	37	chr16	67469611	67469611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tgctggccaccgtattggagTtgaacagccccggtgccatc	12	13	0	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:67469611T>G	ENST00000326152.5	+	2	478	c.346T>G	c.(346-348)Ttg>Gtg	p.L116V	HSD11B2_ENST00000567684.2_3'UTR|ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	116					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		CGTATTGGAGTTGAACAGCCC	0.612																																																	0													58	43	48					16																	67469611		2198	4300	6498	SO:0001583	missense	3291			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.346T>G	16.37:g.67469611T>G	ENSP00000316786:p.Leu116Val		A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.L116V	ENST00000326152.5	37	c.346	CCDS10837.1	16	.	.	.	.	.	.	.	.	.	.	T	3.765	-0.048855	0.07407	.	.	ENSG00000176387	ENST00000326152	D	0.87334	-2.24	5.37	-1.46	0.08800	NAD(P)-binding domain (1);	0.141517	0.45361	D	0.000372	T	0.70859	0.3272	N	0.16862	0.45	0.09310	N	1	B	0.30973	0.302	B	0.32928	0.155	T	0.60031	-0.7342	10	0.23302	T	0.38	.	5.4568	0.16594	0.1702:0.5122:0.0:0.3176	.	116	P80365	DHI2_HUMAN	V	116	ENSP00000316786:L116V	ENSP00000316786:L116V	L	+	1	2	HSD11B2	66027112	0.595000	0.26857	0.002000	0.10522	0.004000	0.04260	1.120000	0.31271	-0.125000	0.11703	0.533000	0.62120	TTG	HSD11B2	-	pfam_DH_sc/Rdtase_SDR		0.612	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	HGNC	protein_coding	OTTHUMT00000268826.3	T	NM_000196		67469611	1	no_errors	ENST00000326152	ensembl	human	known	70_37	missense	SNP	0.003	G	G	67469611	T	G	67469611	3	3	89	1	0	0	0	0	1	0	0	0	7397	1722	60	5	352	5	HSD11B2	16	67469611	Missense_Mutation	SNP	T	TCGA-EA-A5ZE-01A-11D-A28B-09	12106401	67469611	22885142	46	13027										
RUNDC3A	10900	genome.wustl.edu	37	chr17	42395476	42395476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ctccccagggaaggaccccaCgccctccatgctgggcctct	10	19	1	0	rs550029507	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr17:42395476C>T	ENST00000426726.3	+	11	1485	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	404					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGGACCCCACGCCCTCCATG	0.642													C|||	2	0.000399361	0	0.0029	5008	,	,		17947	0		0	False		,,,				2504	0				Pancreas(82;1061 1416 11136 20771 23901)												0													56	56	56					17																	42395476		692	1591	2283	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.1211C>T	17.37:g.42395476C>T	ENSP00000410862:p.Thr404Met		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.T404M	ENST00000426726.3	37	c.1211	CCDS45698.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488857	0.84962	.	.	ENSG00000108309	ENST00000426726	T	0.61392	0.11	4.81	4.81	0.61882	.	.	.	.	.	T	0.70727	0.3257	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73824	-0.3861	9	0.87932	D	0	-13.5231	16.8235	0.85924	0.0:1.0:0.0:0.0	.	404	Q59EK9	RUN3A_HUMAN	M	404	ENSP00000410862:T404M	ENSP00000410862:T404M	T	+	2	0	RUNDC3A	39751002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.477000	0.83638	0.561000	0.74099	ACG	RUNDC3A	-	NULL		0.642	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC3A	HGNC	protein_coding	OTTHUMT00000403173.2	C	NM_006695		42395476	1	no_errors	ENST00000426726	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42395476	C	T	42395476	3	4	89	1	0	0	0	0	1	0	0	0	13774	536	19	2	1277	2	RUNDC3A	17	42395476	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09		42395476	38799734	47	13028										
CYGB	114757	genome.wustl.edu	37	chr17	74527673	74527673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ggcccccatgactcggcaggCgtgcttccgcagctgggggc	16	15	0	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr17:74527673C>T	ENST00000293230.5	-	2	606	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	CYGB_ENST00000590175.1_Missense_Mutation_p.A17T|CYGB_ENST00000586160.1_5'Flank|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.A17T|CYGB_ENST00000589342.1_Missense_Mutation_p.A82T	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	82	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACTCGGCAGGCGTGCTTCCGC	0.617																																																	0													72	71	71					17																	74527673		2203	4300	6503	SO:0001583	missense	114757			AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"stellate cell activation-associated protein", "histoglobin"	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.244G>A	17.37:g.74527673C>T	ENSP00000293230:p.Ala82Thr		Q541Y7|Q8N2X5	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin	p.A82T	ENST00000293230.5	37	c.244	CCDS11746.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.865616	0.97043	.	.	ENSG00000161544	ENST00000293230	D	0.94537	-3.45	5.4	5.4	0.78164	Globin-like (1);Globin, structural domain (1);	0.047021	0.85682	D	0.000000	D	0.97084	0.9047	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	D	0.97657	1.0158	10	0.87932	D	0	-14.8357	19.1688	0.93569	0.0:1.0:0.0:0.0	.	82	Q8WWM9	CYGB_HUMAN	T	82	ENSP00000293230:A82T	ENSP00000293230:A82T	A	-	1	0	CYGB	72039268	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.609000	0.82925	2.536000	0.85505	0.462000	0.41574	GCC	CYGB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish		0.617	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYGB	HGNC	protein_coding	OTTHUMT00000450590.1	C	NM_134268		74527673	-1	no_errors	ENST00000293230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74527673	C	T	74527673	3	4	89	1	0	0	0	0	1	0	0	0	4144	768	27	2	340	2	CYGB	17	74527673	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	32132197	74527673	6667537	48	13029										
EMILIN2	84034	genome.wustl.edu	37	chr18	2892085	2892085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gtgagcaagaaaggacagtgGacaccctgccgtccccccag	12	14	0	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr18:2892085G>A	ENST00000254528.3	+	4	2119	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	654					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGACAGTGGACACCCTGCC	0.557																																																	0													64	60	61					18																	2892085		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1960G>A	18.37:g.2892085G>A	ENSP00000254528:p.Asp654Asn		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.D654N	ENST00000254528.3	37	c.1960	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477587	0.26511	.	.	ENSG00000132205	ENST00000254528	T	0.34667	1.35	5.25	5.25	0.73442	.	0.662283	0.14772	N	0.299350	T	0.24661	0.0598	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.10753	-1.0616	10	0.17369	T	0.5	-5.4816	12.2215	0.54437	0.0785:0.0:0.9215:0.0	.	654	Q9BXX0	EMIL2_HUMAN	N	654	ENSP00000254528:D654N	ENSP00000254528:D654N	D	+	1	0	EMILIN2	2882085	0.262000	0.24073	0.011000	0.14972	0.034000	0.12701	3.308000	0.51896	2.444000	0.82710	0.563000	0.77884	GAC	EMILIN2	-	NULL		0.557	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	G	NM_032048		2892085	1	no_errors	ENST00000254528	ensembl	human	known	70_37	missense	SNP	0.028	A	A	2892085	G	A	2892085	3	1	89	1	0	0	0	0	1	0	0	0	5106	1174	41	1	1974	1	EMILIN2	18	2892085	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		2892085	75185163	49	13030										
RNF125	54941	genome.wustl.edu	37	chr18	29617087	29617087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tgtttggggtagattctgccGttcctgtattgctaccagtc	11	9	1	1	rs201216500		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr18:29617087G>A	ENST00000217740.3	+	2	665	c.173G>A	c.(172-174)cGt>cAt	p.R58H	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	58					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGATTCTGCCGTTCCTGTATT	0.413																																																	0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	324	297	306		173	4.7	1	18		306	0,8600		0,0,4300	no	missense	RNF125	NM_017831.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	58/233	29617087	2,13004	2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.173G>A	18.37:g.29617087G>A	ENSP00000217740:p.Arg58His		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R58H	ENST00000217740.3	37	c.173	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889028	0.52014	4.54E-4	0.0	ENSG00000101695	ENST00000217740	T	0.20738	2.05	5.57	4.7	0.59300	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.52532	D	0.000078	T	0.16342	0.0393	L	0.48642	1.525	0.28167	N	0.928711	P	0.37398	0.593	B	0.31686	0.134	T	0.13656	-1.0501	10	0.44086	T	0.13	-2.2451	8.6224	0.33868	0.1725:0.0:0.8275:0.0	.	58	Q96EQ8	RN125_HUMAN	H	58	ENSP00000217740:R58H	ENSP00000217740:R58H	R	+	2	0	RNF125	27871085	0.997000	0.39634	1.000000	0.80357	0.971000	0.66376	1.975000	0.40569	1.359000	0.45940	0.650000	0.86243	CGT	RNF125	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.413	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29617087	1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29617087	G	A	29617087	3	1	89	1	0	0	0	0	1	0	0	0	13464	1145	40	2	179	2	RNF125	18	29617087	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	26725002	29617087	48460161	50	13031										
GPI	2821	genome.wustl.edu	37	chr19	34859566	34859566	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	acggcaaggatgtgatgccaGaggtcaacaaggttctggac	14	8	2	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:34859566G>C	ENST00000356487.5	+	4	602	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	GPI_ENST00000586425.1_Missense_Mutation_p.E121Q|GPI_ENST00000415930.3_Missense_Mutation_p.E160Q	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	121					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGTGATGCCAGAGGTCAACAA	0.552																																																	0													150	117	128					19																	34859566		2203	4300	6503	SO:0001583	missense	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.361G>C	19.37:g.34859566G>C	ENSP00000348877:p.Glu121Gln		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.E160Q	ENST00000356487.5	37	c.478	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.705772	0.96812	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94330	-3.4;-3.4	5.88	5.88	0.94601	.	0.137725	0.64402	D	0.000004	D	0.95023	0.8389	L	0.55213	1.73	0.80722	D	1	P;D;P;P	0.53619	0.766;0.961;0.766;0.536	P;P;P;B	0.55455	0.694;0.776;0.694;0.368	D	0.94657	0.7844	10	0.59425	D	0.04	-17.2928	20.221	0.98325	0.0:0.0:1.0:0.0	.	121;160;104;121	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	Q	160;121	ENSP00000405573:E160Q;ENSP00000348877:E121Q	ENSP00000348877:E121Q	E	+	1	0	GPI	39551406	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	9.782000	0.99034	2.792000	0.96026	0.555000	0.69702	GAG	GPI	-	pfam_G6P_Isomerase		0.552	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	G			34859566	1	no_errors	ENST00000415930	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34859566	G	C	34859566	3	2	89	1	0	0	0	0	1	0	0	0	6630	943	33	1	496	1	GPI	19	34859566	Missense_Mutation	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		34859566	24269417	51	13032			1	55		2	2	24	G		4.234852e-05
GPI	2821	genome.wustl.edu	37	chr19	34859589	34859589	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gtcaacaaggttctggacaaGatgaagtctttctgccaggt	11	8	4	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:34859589G>A	ENST00000356487.5	+	4	625	c.384G>A	c.(382-384)aaG>aaA	p.K128K	GPI_ENST00000586425.1_Silent_p.K128K|GPI_ENST00000415930.3_Silent_p.K167K	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	128					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTCTGGACAAGATGAAGTCTT	0.567																																																	0													151	116	128					19																	34859589		2203	4300	6503	SO:0001819	synonymous_variant	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.384G>A	19.37:g.34859589G>A			B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.K167	ENST00000356487.5	37	c.501	CCDS12437.1	19																																																																																			GPI	-	pfam_G6P_Isomerase,prints_G6P_Isomerase		0.567	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	G			34859589	1	no_errors	ENST00000415930	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34859589	G	A	34859589	2	1	89	1	0	0	0	0	0	0	0	1	6630	933	33	1		1	GPI	19	34859589	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09	23	34859589	24269394	52	13033			1	55		2	2	24	G		4.234852e-05
PTPRH	5794	genome.wustl.edu	37	chr19	55702891	55702891	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	aaagaccagatccctgagttCtggtttctgctgcttcttct	8	11	4	3			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:55702891C>G	ENST00000376350.3	-	12	2384	c.2362G>C	c.(2362-2364)Gaa>Caa	p.E788Q	PTPRH_ENST00000588559.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.E610Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	788					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCCCTGAGTTCTGGTTTCTGC	0.537																																																	0													233	233	233					19																	55702891		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2362G>C	19.37:g.55702891C>G	ENSP00000365528:p.Glu788Gln		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E788Q	ENST00000376350.3	37	c.2362	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	5.288	0.238470	0.10023	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06528	3.29;4.28	3.84	1.66	0.24008	.	8.348230	0.00531	N	0.000218	T	0.03348	0.0097	N	0.14661	0.345	0.09310	N	1	B;P	0.41102	0.159;0.738	B;B	0.28553	0.035;0.091	T	0.36720	-0.9736	10	0.16896	T	0.51	.	5.1371	0.14941	0.0:0.6707:0.2131:0.1162	.	610;788	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	788;610	ENSP00000365528:E788Q;ENSP00000263434:E610Q	ENSP00000263434:E610Q	E	-	1	0	PTPRH	60394703	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.347000	0.20014	0.575000	0.29434	0.491000	0.48974	GAA	PTPRH	-	NULL		0.537	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55702891	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	missense	SNP	0.000	G	G	55702891	C	G	55702891	3	3	89	1	0	0	0	0	1	0	0	0	12833	922	32	1	1021	1	PTPRH	19	55702891	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	20843302	55702891	3426092	53	13034			2	56	20843302	2	2	20	C		3.498369e-05
PTPRH	5794	genome.wustl.edu	37	chr19	55702910	55702910	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tctggtttctgctgcttcttCttattcctgggaaaaggacg	10	9	4	0	rs2288523	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:55702910C>T	ENST00000376350.3	-	12	2365	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	PTPRH_ENST00000588559.1_5'Flank|PTPRH_ENST00000263434.5_Silent_p.K603K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	781			K -> N (in dbSNP:rs2288523).		apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTGCTTCTTCTTATTCCTGG	0.552																																																	0													194	196	195					19																	55702910		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2343G>A	19.37:g.55702910C>T			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K781	ENST00000376350.3	37	c.2343	CCDS33110.1	19																																																																																			PTPRH	-	NULL		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55702910	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	silent	SNP	0.001	T	T	55702910	C	T	55702910	2	4	89	1	0	0	0	0	0	0	0	1	12833	912	32	1		1	PTPRH	19	55702910	Silent	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	19	55702910	3426073	54	13035			2	56	20843302	2	2	20	C		3.498369e-05
COL20A1	57642	genome.wustl.edu	37	chr20	61943826	61943826	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	tggggcctctctcttcctccAccacctacactgtccgtgtc	7	18	2	0			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr20:61943826A>T	ENST00000358894.6	+	15	1958	c.1858A>T	c.(1858-1860)Acc>Tcc	p.T620S	COL20A1_ENST00000326996.6_Missense_Mutation_p.T620S|COL20A1_ENST00000435874.1_Missense_Mutation_p.T627S|COL20A1_ENST00000422202.1_Missense_Mutation_p.T627S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	620	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCTTCCTCCACCACCTACAC	0.682																																																	0													39	47	44					20																	61943826		2198	4297	6495	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1858A>T	20.37:g.61943826A>T	ENSP00000351767:p.Thr620Ser		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T620S	ENST00000358894.6	37	c.1858	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729660	0.48833	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	4.15	4.15	0.48705	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.070220	0.64402	D	0.000017	T	0.63070	0.2480	M	0.64997	1.995	0.31166	N	0.703746	P;D	0.54047	0.955;0.964	P;P	0.53266	0.6;0.722	T	0.68723	-0.5333	10	0.56958	D	0.05	.	9.5902	0.39541	1.0:0.0:0.0:0.0	.	627;620	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	620;620;627;627	ENSP00000351767:T620S;ENSP00000323077:T620S;ENSP00000408690:T627S;ENSP00000414753:T627S	ENSP00000323077:T620S	T	+	1	0	COL20A1	61414271	0.002000	0.14202	0.482000	0.27366	0.269000	0.26545	1.292000	0.33342	1.539000	0.49286	0.260000	0.18958	ACC	COL20A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	A	NM_020882		61943826	1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.928	T	T	61943826	A	T	61943826	3	4	89	1	0	0	0	0	1	0	0	0	3684	159	6	5	1912	5	COL20A1	20	61943826	Missense_Mutation	SNP	A	TCGA-EA-A5ZE-01A-11D-A28B-09		61943826	1081694	55	13036										
KRTAP27-1	643812	genome.wustl.edu	37	chr21	31709770	31709770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	gttactttgcacacagctatCgtctgtgaataagtcctgtt	8	9	1	1			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr21:31709770C>T	ENST00000382835.2	-	1	242	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	73						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						ACACAGCTATCGTCTGTGAAT	0.468																																																	0													161	153	156					21																	31709770		2203	4300	6503	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.217G>A	21.37:g.31709770C>T	ENSP00000372286:p.Asp73Asn			Missense_Mutation	SNP	pfam_PMG	p.D73N	ENST00000382835.2	37	c.217	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531088	0.13127	.	.	ENSG00000206107	ENST00000382835	T	0.33438	1.41	4.34	-1.86	0.07760	.	7.659710	0.00575	N	0.000303	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.13602	-1.0503	10	0.23302	T	0.38	3.7655	5.1381	0.14945	0.0:0.3833:0.1593:0.4575	.	73	Q3LI81	KR271_HUMAN	N	73	ENSP00000372286:D73N	ENSP00000372286:D73N	D	-	1	0	KRTAP27-1	30631641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.709000	0.05030	-0.370000	0.08016	-0.191000	0.12829	GAT	KRTAP27-1	-	pfam_PMG		0.468	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	C	NM_001077711		31709770	-1	no_errors	ENST00000382835	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31709770	C	T	31709770	3	4	89	1	0	0	0	0	1	0	0	0	8564	884	31	1	410	1	KRTAP27-1	21	31709770	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09		31709770	16420125	56	13037										
IL1RAPL2	26280	genome.wustl.edu	37	chrX	104999271	104999271	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	cagtttgctcttgaagtactGccagatgtcctggaaaaaca	9	9	1	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chrX:104999271G>T	ENST00000372582.1	+	10	2049	c.1293G>T	c.(1291-1293)ctG>ctT	p.L431L	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.L431L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGAAGTACTGCCAGATGTCC	0.378																																																	0													130	120	123					X																	104999271		2203	4300	6503	SO:0001819	synonymous_variant	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1293G>T	X.37:g.104999271G>T			Q2M3U3|Q9NZN0	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.L431	ENST00000372582.1	37	c.1293	CCDS14517.1	X																																																																																			IL1RAPL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	G	NM_017416		104999271	1	no_errors	ENST00000344799	ensembl	human	known	70_37	silent	SNP	0.997	T	T	104999271	G	T	104999271	2	4	89	1	0	0	0	0	0	0	0	1	7682	1306	46	4		4	IL1RAPL2	23	104999271	Silent	SNP	G	TCGA-EA-A5ZE-01A-11D-A28B-09		104999271	50271289	57	13038										
GPR112	139378	genome.wustl.edu	37	chrX	135426995	135426995	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.192982456140351	11	0.0212351443694159	2.07494969818913	3.3953722334004	1.81086519114688	0.0861089375021264	0.235283575710036	6	ttctaatttcctatccacatCcagatttaccaagaattcag	3	11	2	2			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chrX:135426995C>G	ENST00000394143.1	+	6	1421	c.1130C>G	c.(1129-1131)tCc>tGc	p.S377C	GPR112_ENST00000412101.1_Missense_Mutation_p.S172C|GPR112_ENST00000370652.1_Missense_Mutation_p.S377C|GPR112_ENST00000287534.4_Missense_Mutation_p.S314C|GPR112_ENST00000394141.1_Missense_Mutation_p.S172C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	377					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTATCCACATCCAGATTTACC	0.363																																																	0													76	71	73					X																	135426995		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1130C>G	X.37:g.135426995C>G	ENSP00000377699:p.Ser377Cys		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S377C	ENST00000394143.1	37	c.1130	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	6.585	0.476272	0.12521	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	3.95	0.864	0.19068	.	.	.	.	.	T	0.28797	0.0714	L	0.29908	0.895	0.09310	N	1	P;B;B	0.38617	0.64;0.329;0.221	B;B;B	0.40329	0.326;0.224;0.112	T	0.22836	-1.0205	9	0.87932	D	0	.	2.5621	0.04774	0.2315:0.4981:0.0:0.2703	.	314;172;377	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	377;377;172;314;172	ENSP00000377699:S377C;ENSP00000359686:S377C;ENSP00000416526:S172C;ENSP00000287534:S314C;ENSP00000377697:S172C	ENSP00000287534:S314C	S	+	2	0	GPR112	135254661	0.026000	0.19158	0.000000	0.03702	0.010000	0.07245	0.265000	0.18515	0.267000	0.21916	-0.328000	0.08392	TCC	GPR112	-	NULL		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135426995	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.000	G	G	135426995	C	G	135426995	3	3	89	1	0	0	0	0	1	0	0	0	6648	855	30	1	1140	1	GPR112	23	135426995	Missense_Mutation	SNP	C	TCGA-EA-A5ZE-01A-11D-A28B-09	30427724	135426995	19843565	58	13039										
MTF1	4520	genome.wustl.edu	37	chr1	38289394	38289394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tgacaaacctgtctgttgagGatcttcctgaattgccgtat	9	9	2	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:38289394G>A	ENST00000373036.4	-	8	1299	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	387					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCTGTTGAGGATCTTCCTGA	0.448																																																	0													176	135	149					1																	38289394		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1159C>T	1.37:g.38289394G>A	ENSP00000362127:p.Pro387Ser		B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P387S	ENST00000373036.4	37	c.1159	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524960	0.27299	.	.	ENSG00000188786	ENST00000373036	T	0.09911	2.93	5.3	2.03	0.26663	.	0.243530	0.42682	D	0.000668	T	0.04497	0.0123	N	0.12746	0.255	0.30539	N	0.76666	B	0.02656	0.0	B	0.01281	0.0	T	0.13791	-1.0496	10	0.45353	T	0.12	.	1.0287	0.01533	0.1475:0.1715:0.2812:0.3998	.	387	Q14872	MTF1_HUMAN	S	387	ENSP00000362127:P387S	ENSP00000362127:P387S	P	-	1	0	MTF1	38061981	0.999000	0.42202	1.000000	0.80357	0.686000	0.39977	0.926000	0.28804	1.204000	0.43247	0.563000	0.77884	CCT	MTF1	-	NULL		0.448	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	G	NM_005955		38289394	-1	no_errors	ENST00000373036	ensembl	human	known	70_37	missense	SNP	0.991	A	A	38289394	G	A	38289394	3	1	90	1	0	0	0	0	1	0	0	0	9945	1174	41	1	1118	1	MTF1	1	38289394	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		38289394	210961227	1	13040										
DPT	1805	genome.wustl.edu	37	chr1	168683560	168683560	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ctctggaatcctgccaccagCccattgttggagcacgtctg	10	14	2	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:168683560C>A	ENST00000367817.3	-	2	419	c.330G>T	c.(328-330)ggG>ggT	p.G110G		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	110	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGCCACCAGCCCATTGTTGG	0.542																																																	0													90	80	83					1																	168683560		2203	4300	6503	SO:0001819	synonymous_variant	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.330G>T	1.37:g.168683560C>A			A8K981|Q8N4R2|Q9UIX8	Silent	SNP	NULL	p.G110	ENST00000367817.3	37	c.330	CCDS1275.1	1																																																																																			DPT	-	NULL		0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1	C	NM_001937		168683560	-1	no_errors	ENST00000367817	ensembl	human	known	70_37	silent	SNP	0.089	A	A	168683560	C	A	168683560	2	1	90	1	0	0	0	0	0	0	0	1	4749	726	26	4		4	DPT	1	168683560	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	130394166	168683560	80567061	2	13041										
LIN9	286826	genome.wustl.edu	37	chr1	226420826	226420826	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gaagcgtctattgtactcttGatatcatttaatgagtctgt	8	6	4	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:226420826G>C	ENST00000328205.5	-	14	2087	c.1542C>G	c.(1540-1542)atC>atG	p.I514M	LIN9_ENST00000481685.1_Missense_Mutation_p.I479M|LIN9_ENST00000366801.1_Missense_Mutation_p.I463M	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	498					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTGTACTCTTGATATCATTTA	0.308																																					Ovarian(197;1696 2974 11248 14117)												0													72	80	78					1																	226420826		2203	4290	6493	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1542C>G	1.37:g.226420826G>C	ENSP00000329102:p.Ile514Met		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.I514M	ENST00000328205.5	37	c.1542	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344828	0.41498	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.52	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.99	D;D;P	0.68765	0.96;0.955;0.758	T	0.67917	-0.5546	9	0.42905	T	0.14	.	6.0877	0.19976	0.1367:0.0:0.5876:0.2757	.	479;498;648	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	M	474;514;569;463;479	.	ENSP00000329102:I514M	I	-	3	3	LIN9	224487449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.363000	0.34159	1.265000	0.44215	0.655000	0.94253	ATC	LIN9	-	NULL		0.308	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	G	NM_173083		226420826	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	C	C	226420826	G	C	226420826	3	2	90	1	0	0	0	0	1	0	0	0	8834	1280	45	1	142	1	LIN9	1	226420826	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	57737266	226420826	22829795	3	13042										
SMEK2	57223	genome.wustl.edu	37	chr2	55804494	55804494	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tttgatccaactatattatcTaataaaaaaattaaaaatta	1	4	1	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:55804494T>C	ENST00000345102.5	-	11	1866		c.e11-2		SMEK2_ENST00000272313.5_Splice_Site|SMEK2_ENST00000407823.3_Splice_Site	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			Ctatattatctaataaaaaaa	0.239																																																	0													13	14	14					2																	55804494		2132	4217	6349	SO:0001630	splice_region_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1565-2A>G	2.37:g.55804494T>C			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Splice_Site	SNP	-	e10-2	ENST00000345102.5	37	c.1469-2	CCDS46289.1	2																																																																																			SMEK2	-	-		0.239	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	T	NM_020463	Intron	55804494	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	splice_site	SNP	0.997	C	C	55804494	T	C	55804494	5	2	90	1	0	0	0	0	0	0	1	0	14824	1536	53	5	1014	5	SMEK2	2	55804494	Splice_Site	SNP	T	TCGA-EA-A5ZF-01A-11D-A28B-09		55804494	187394879	4	13043										
GPR45	11250	genome.wustl.edu	37	chr2	105858750	105858750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cgccaggacaagctgaacccGcgcagggccaaggtgatcat	13	13	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:105858750G>A	ENST00000258456.1	+	1	551	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGCTGAACCCGCGCAGGGCCA	0.657																																																	0													43	41	42					2																	105858750		2203	4300	6503	SO:0001819	synonymous_variant	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.435G>A	2.37:g.105858750G>A			Q6NWS4|Q6NXU6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P145	ENST00000258456.1	37	c.435	CCDS2066.1	2																																																																																			GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	G	NM_007227		105858750	1	no_errors	ENST00000258456	ensembl	human	known	70_37	silent	SNP	0.004	A	A	105858750	G	A	105858750	2	1	90	1	0	0	0	0	0	0	0	1	6715	1074	38	2		2	GPR45	2	105858750	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	50054256	105858750	137340623	5	13044										
UBXN4	23190	genome.wustl.edu	37	chr2	136519420	136519420	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	caggccatgccacttcctctCaggagcctagtggatgctca	10	14	2	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:136519420C>T	ENST00000272638.9	+	6	852	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	181					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CACTTCCTCTCAGGAGCCTAG	0.368																																																	0													58	61	60					2																	136519420		1847	4085	5932	SO:0001587	stop_gained	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.541C>T	2.37:g.136519420C>T	ENSP00000272638:p.Gln181*		A8K9W4|Q4ZG56|Q8IYM5	Nonsense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.Q181*	ENST00000272638.9	37	c.541	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.707827	0.96821	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.02	5.02	0.67125	.	0.619068	0.16876	N	0.195939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	14.2258	0.65858	0.0:1.0:0.0:0.0	.	.	.	.	X	181;163	.	ENSP00000272638:Q181X	Q	+	1	0	UBXN4	136235890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.895000	0.56258	2.485000	0.83878	0.655000	0.94253	CAG	UBXN4	-	NULL		0.368	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	C	NM_014607		136519420	1	no_errors	ENST00000272638	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	136519420	C	T	136519420	4	4	90	1	0	0	0	0	0	1	0	0	16947	827	29	1	563	1	UBXN4	2	136519420	Nonsense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	30660670	136519420	106679953	6	13045										
INPP5D	3635	genome.wustl.edu	37	chr2	234072395	234072395	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gatcacgtcctggtttctctCcaaggggcagggaaagacgc	13	11	2	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:234072395C>G	ENST00000359570.5	+	14	1247	c.1247C>G	c.(1246-1248)tCc>tGc	p.S416C	INPP5D_ENST00000538935.1_Missense_Mutation_p.S415C|INPP5D_ENST00000455936.2_Missense_Mutation_p.S180C|INPP5D_ENST00000450745.1_Missense_Mutation_p.S180C			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	428					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGGTTTCTCTCCAAGGGGCAG	0.552																																					NSCLC(82;1215 1426 16163 20348 41018)												0													137	144	142					2																	234072395		2048	4172	6220	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1247C>G	2.37:g.234072395C>G	ENSP00000352575:p.Ser416Cys		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.S416C	ENST00000359570.5	37	c.1247		2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878530	0.33162	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.98	4.98	0.66077	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.104769	0.64402	D	0.000004	T	0.72187	0.3429	.	.	.	0.42653	D	0.993452	B;B	0.20368	0.036;0.044	B;B	0.19148	0.014;0.024	T	0.67280	-0.5710	9	0.30078	T	0.28	.	14.1062	0.65091	0.0:0.8497:0.1503:0.0	.	427;428	Q92835-2;Q92835	.;SHIP1_HUMAN	C	416;415;180;180;49;49;49	ENSP00000352575:S416C;ENSP00000441010:S415C;ENSP00000407916:S180C;ENSP00000404610:S180C;ENSP00000400151:S49C;ENSP00000397421:S49C;ENSP00000405338:S49C	ENSP00000352575:S416C	S	+	2	0	INPP5D	233736467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.550000	0.60733	2.605000	0.88082	0.655000	0.94253	TCC	INPP5D	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.552	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		C	NM_001017915		234072395	1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	1.000	G	G	234072395	C	G	234072395	3	3	90	1	0	0	0	0	1	0	0	0	7776	855	30	1	837	1	INPP5D	2	234072395	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	97552975	234072395	9126978	7	13046										
LTF	4057	genome.wustl.edu	37	chr3	46497810	46497810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cccgtagacttccgccgctaCaggtcgcagtttgtaggggg	14	12	0	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:46497810C>A	ENST00000231751.4	-	3	581	c.286G>T	c.(286-288)Gta>Tta	p.V96L	LTF_ENST00000426532.2_Missense_Mutation_p.V52L|LTF_ENST00000417439.1_Missense_Mutation_p.V96L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	96	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TCCGCCGCTACAGGTCGCAGT	0.582																																																	0													77	72	73					3																	46497810		2203	4300	6503	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.286G>T	3.37:g.46497810C>A	ENSP00000231751:p.Val96Leu		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.V96L	ENST00000231751.4	37	c.286	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876520	0.51801	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	4.35	0.407	0.16371	.	0.152686	0.56097	D	0.000027	T	0.48466	0.1501	M	0.78344	2.41	0.09310	N	1	P;P;P	0.37038	0.579;0.463;0.579	P;B;P	0.46585	0.521;0.252;0.521	T	0.47005	-0.9150	10	0.87932	D	0	-9.8072	6.945	0.24514	0.0:0.5042:0.0:0.4958	.	96;83;96	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	L	96;52;96;83;96;107;52	ENSP00000231751:V96L;ENSP00000405719:V52L;ENSP00000405546:V96L;ENSP00000397427:V83L;ENSP00000395234:V107L;ENSP00000400254:V52L	ENSP00000231751:V96L	V	-	1	0	LTF	46472814	0.012000	0.17670	0.001000	0.08648	0.003000	0.03518	0.058000	0.14301	0.157000	0.19338	0.655000	0.94253	GTA	LTF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.582	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	C	NM_002343		46497810	-1	no_errors	ENST00000231751	ensembl	human	known	70_37	missense	SNP	0.073	A	A	46497810	C	A	46497810	3	1	90	1	0	0	0	0	1	0	0	0	9102	478	17	4	1906	4	LTF	3	46497810	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		46497810	151524620	8	13047										
FILIP1L	11259	genome.wustl.edu	37	chr3	99567710	99567710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gctttggcgtgccacagttcGgtatcactgcagtactcgtg	12	11	1	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:99567710G>A	ENST00000354552.3	-	5	3280	c.2810C>T	c.(2809-2811)cCg>cTg	p.P937L	FILIP1L_ENST00000471562.1_Missense_Mutation_p.P697L|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P697L|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.P937L|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P513L|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	937						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCCACAGTTCGGTATCACTGC	0.448																																																	0													292	279	283					3																	99567710		2040	4186	6226	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2810C>T	3.37:g.99567710G>A	ENSP00000346560:p.Pro937Leu		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.P937L	ENST00000354552.3	37	c.2810	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906342	0.72868	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.37584	1.51;1.19;1.21;1.51;1.21;1.3	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000079	T	0.60117	0.2244	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.9	T	0.56535	-0.7963	10	0.62326	D	0.03	-13.0151	20.8794	0.99867	0.0:0.0:1.0:0.0	.	937;937	Q4L180-2;Q4L180	.;FIL1L_HUMAN	L	937;513;697;937;697;683;697	ENSP00000346560:P937L;ENSP00000417774:P513L;ENSP00000419642:P697L;ENSP00000327880:P937L;ENSP00000373192:P697L;ENSP00000419874:P697L	ENSP00000327880:P937L	P	-	2	0	FILIP1L	101050400	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.864000	0.99589	2.941000	0.99782	0.655000	0.94253	CCG	FILIP1L	-	NULL		0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	G	NM_014890		99567710	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99567710	G	A	99567710	3	1	90	1	0	0	0	0	1	0	0	0	5913	1116	39	2	626	2	FILIP1L	3	99567710	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	53069900	99567710	98454720	9	13048										
PIK3R4	30849	genome.wustl.edu	37	chr3	130435286	130435286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gtgctatggcaggatcctctGgcggagggcagtcgggaaga	18	8	1	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:130435286G>A	ENST00000356763.3	-	9	2842	c.2285C>T	c.(2284-2286)cCa>cTa	p.P762L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	762					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGATCCTCTGGCGGAGGGCA	0.408																																																	0													88	94	92					3																	130435286		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2285C>T	3.37:g.130435286G>A	ENSP00000349205:p.Pro762Leu		Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P762L	ENST00000356763.3	37	c.2285	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843642	0.51164	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.58797	1.07;0.91;0.31;0.37	5.21	5.21	0.72293	.	0.053101	0.85682	D	0.000000	T	0.55657	0.1934	L	0.59436	1.845	0.80722	D	1	B	0.29115	0.233	B	0.22601	0.04	T	0.55347	-0.8155	10	0.41790	T	0.15	-20.3706	18.7681	0.91881	0.0:0.0:1.0:0.0	.	762	Q99570	PI3R4_HUMAN	L	762;121;121;121	ENSP00000349205:P762L;ENSP00000427302:P121L;ENSP00000424274:P121L;ENSP00000422767:P121L	ENSP00000349205:P762L	P	-	2	0	PIK3R4	131917976	1.000000	0.71417	0.091000	0.20842	0.508000	0.34012	9.476000	0.97823	2.439000	0.82584	0.655000	0.94253	CCA	PIK3R4	-	NULL		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	G	NM_014602		130435286	-1	no_errors	ENST00000356763	ensembl	human	known	70_37	missense	SNP	0.998	A	A	130435286	G	A	130435286	3	1	90	1	0	0	0	0	1	0	0	0	11945	1348	47	4	1839	4	PIK3R4	3	130435286	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	30867576	130435286	67587144	10	13049										
ACPL2	92370	genome.wustl.edu	37	chr3	141011882	141011882	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cggattctttacaatggcgtCgatgtcacattccacacctc	7	13	2	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:141011882C>T	ENST00000286353.4	+	6	1415	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	ACPL2_ENST00000393007.1_Silent_p.V410V|ACPL2_ENST00000504264.1_Silent_p.V409V|ACPL2_ENST00000508812.1_Silent_p.V417V|ACPL2_ENST00000393010.2_Silent_p.V426V|ACPL2_ENST00000502783.1_Silent_p.V388V|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		426						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ACAATGGCGTCGATGTCACAT	0.507																																																	0													134	128	130					3																	141011882		2203	4300	6503	SO:0001819	synonymous_variant	92370																														ENST00000286353.4:c.1278C>T	3.37:g.141011882C>T			D3DNF5|Q49AJ2|W0TR04	Silent	SNP	pfam_His_Pase_superF_clade-2	p.V426	ENST00000286353.4	37	c.1278	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	C	7.065	0.567160	0.13560	.	.	ENSG00000155893	ENST00000332228	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55636	-0.8110	5	0.30078	T	0.28	.	6.7755	0.23617	0.0752:0.0864:0.3915:0.4469	.	.	.	.	L	222	.	ENSP00000327587:S222L	S	+	2	0	ACPL2	142494572	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-2.787000	0.00769	-2.295000	0.00662	-0.345000	0.07892	TCG	ACPL2	-	NULL		0.507	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	C			141011882	1	no_errors	ENST00000286353	ensembl	human	known	70_37	silent	SNP	0.007	T	T	141011882	C	T	141011882	2	4	90	1	0	0	0	0	0	0	0	1	166	871	31	1		1	ACPL2	3	141011882	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	10576596	141011882	57010548	11	13050										
KIAA1109	84162	genome.wustl.edu	37	chr4	123234800	123234800	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	caggtgtagttccagatggcAcctatgaagtatgttcaaga	11	7	1	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:123234800A>T	ENST00000264501.4	+	60	10643	c.10270A>T	c.(10270-10272)Acc>Tcc	p.T3424S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T3424S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T3424S			Q2LD37	K1109_HUMAN	KIAA1109	3424					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAGATGGCACCTATGAAGT	0.333																																																	0													120	112	114					4																	123234800		1841	4094	5935	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10270A>T	4.37:g.123234800A>T	ENSP00000264501:p.Thr3424Ser		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.T3424S	ENST00000264501.4	37	c.10270	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.687072|4.687072	0.88639|0.88639	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707;ENST00000421930	.|T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.62502|0.62502	0.2433|0.2433	M|M	0.68317|0.68317	2.08|2.08	0.47511|0.47511	D|D	0.999443|0.999443	.|D;D	.|0.63880	.|0.974;0.993	.|D;D	.|0.68192	.|0.953;0.956	T|T	0.66089|0.66089	-0.6010|-0.6010	5|10	.|0.72032	.|D	.|0.01	.|.	15.5695|15.5695	0.76323|0.76323	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3424;3424	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	L|S	1381|3424;3424;3424;40;40	.|ENSP00000264501:T3424S;ENSP00000373390:T3424S;ENSP00000389925:T3424S;ENSP00000410874:T40S	.|ENSP00000264501:T3424S	H|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123454250|123454250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.561000|8.561000	0.90715|0.90715	2.075000|2.075000	0.62263|0.62263	0.377000|0.377000	0.23210|0.23210	CAC|ACC	KIAA1109	-	NULL		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	A	NM_020797		123234800	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123234800	A	T	123234800	3	4	90	1	0	0	0	0	1	0	0	0	8228	159	6	5	10500	5	KIAA1109	4	123234800	Missense_Mutation	SNP	A	TCGA-EA-A5ZF-01A-11D-A28B-09		123234800	67919476	12	13051										
PALLD	23022	genome.wustl.edu	37	chr4	169819769	169819769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gtgcctgtggaaaatggaatGgcaccattctttgagatgaa	12	6	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:169819769G>T	ENST00000505667.1	+	14	2549	c.2376G>T	c.(2374-2376)atG>atT	p.M792I	PALLD_ENST00000335742.7_Missense_Mutation_p.M617I|PALLD_ENST00000261509.6_Missense_Mutation_p.M775I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.M288I|PALLD_ENST00000512127.1_Missense_Mutation_p.M393I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	999	Interaction with EPS8. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAAATGGAATGGCACCATTCT	0.428									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													149	136	140					4																	169819769		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2376G>T	4.37:g.169819769G>T	ENSP00000425556:p.Met792Ile		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M775I	ENST00000505667.1	37	c.2325	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.060901	0.00386	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000510998;ENST00000393726;ENST00000507735	T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;0.73;1.62;-0.58	5.55	2.35	0.29111	Immunoglobulin-like fold (1);	1.368100	0.05529	U	0.563542	T	0.45875	0.1364	N	0.02539	-0.55	0.52099	D	0.999947	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.15983	-1.0418	10	0.22109	T	0.4	.	8.5636	0.33525	0.3463:0.0:0.6537:0.0	.	792;999;393;775	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	I	775;617;792;393;68;68;288	ENSP00000261509:M775I;ENSP00000336735:M617I;ENSP00000425556:M792I;ENSP00000426947:M393I;ENSP00000422135:M68I;ENSP00000377327:M68I;ENSP00000424016:M288I	ENSP00000261509:M775I	M	+	3	0	PALLD	170056344	0.761000	0.28439	0.284000	0.24805	0.047000	0.14425	1.081000	0.30791	0.466000	0.27193	-0.224000	0.12420	ATG	PALLD	-	NULL		0.428	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	G	NM_016081		169819769	1	no_errors	ENST00000261509	ensembl	human	known	70_37	missense	SNP	0.441	T	T	169819769	G	T	169819769	3	4	90	1	0	0	0	0	1	0	0	0	11431	1348	47	4	2933	4	PALLD	4	169819769	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	46584969	169819769	21334507	13	13052										
ODZ3	55714	genome.wustl.edu	37	chr4	183714672	183714672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	atctccaaggacatctttttGccatggaaatcagcagtggg	10	9	3	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:183714672G>T	ENST00000511685.1	+	26	6970	c.6847G>T	c.(6847-6849)Gcc>Tcc	p.A2283S	TENM3_ENST00000406950.2_Missense_Mutation_p.A2283S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2283					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACATCTTTTTGCCATGGAAAT	0.418																																																	0													60	58	59					4																	183714672		1899	4133	6032	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6847G>T	4.37:g.183714672G>T	ENSP00000424226:p.Ala2283Ser		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2283S	ENST00000511685.1	37	c.6847	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582272	0.65992	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88201	-2.35;-2.35	4.89	4.89	0.63831	.	.	.	.	.	D	0.88202	0.6373	M	0.76328	2.33	0.80722	D	1	B	0.32781	0.384	B	0.23716	0.048	D	0.88324	0.2964	9	0.54805	T	0.06	.	18.2684	0.90060	0.0:0.0:1.0:0.0	.	2283	Q9P273	TEN3_HUMAN	S	2283	ENSP00000424226:A2283S;ENSP00000385276:A2283S	ENSP00000385276:A2283S	A	+	1	0	ODZ3	183951666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.628000	0.83189	2.534000	0.85438	0.563000	0.77884	GCC	TENM3	-	NULL		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183714672	1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183714672	G	T	183714672	3	4	90	1	0	0	0	0	1	0	0	0	10860	1319	46	4	6945	4	ODZ3	4	183714672	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	13894903	183714672	7439604	14	13053										
ANKHD1-EIF4EBP3	8637	genome.wustl.edu	37	chr5	139928631	139928631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tctccaagctggaggagctgAaggagcaggagacagaggaa	16	7	1	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr5:139928631A>G	ENST00000310331.2	+	2	316	c.244A>G	c.(244-246)Aag>Gag	p.K82E	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E2607G|SRA1_ENST00000520427.1_5'Flank|ANKHD1_ENST00000297183.6_Missense_Mutation_p.E2607G	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	82					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGCTGAAGGAGCAGGA	0.567																																																	0													40	42	42					5																	139928631		2203	4300	6503	SO:0001583	missense	54882			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.244A>G	5.37:g.139928631A>G	ENSP00000308472:p.Lys82Glu			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E2607G	ENST00000310331.2	37	c.7820	CCDS4226.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.69|19.69	3.873853|3.873853	0.72180|0.72180	.|.	.|.	ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000243056	ENST00000297183;ENST00000532219;ENST00000437495|ENST00000310331	T;T;T|.	0.72282|.	-0.64;-0.64;0.63|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	T|T	0.36853|0.36853	0.0982|0.0982	N|N	0.12637|0.12637	0.245|0.245	0.49687|0.49687	D|D	0.999811|0.999811	B|P	0.17667|0.41784	0.023|0.762	B|B	0.14023|0.42245	0.01|0.381	T|T	0.21415|0.21415	-1.0246|-1.0246	8|7	.|.	.|.	.|.	.|.	12.9688|12.9688	0.58501|0.58501	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2607|82	Q8IWZ2|O60516	.|4EBP3_HUMAN	G|E	2607;2607;626|82	ENSP00000297183:E2607G;ENSP00000432016:E2607G;ENSP00000396882:E626G|.	.|.	E|K	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|EIF4EBP3	139908815|139908815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.267000|6.267000	0.72546|0.72546	2.091000|2.091000	0.63221|0.63221	0.533000|0.533000	0.62120|0.62120	GAA|AAG	ANKHD1	-	NULL		0.567	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251668.2	A	NM_003732		139928631	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139928631	A	G	139928631	3	3	90	1	0	0	0	0	1	0	0	0	629	247	9	5	7958	5	ANKHD1-EIF4EBP3	5	139928631	Missense_Mutation	SNP	A	TCGA-EA-A5ZF-01A-11D-A28B-09		139928631	40986629	15	13054										
IL12B	3593	genome.wustl.edu	37	chr5	158750115	158750117	+	In_Frame_Del	DEL	AGC	AGC	-													0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttccatcttcctttttgtgaAgcagcaggagcgaatggctt							TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr5:158750115_158750117delAGC	ENST00000231228.2	-	3	764_766	c.309_311delGCT	c.(307-312)ctgctt>ctt	p.103_104LL>L		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	103	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTTGTGAAGCAGCAGGAGCG	0.438																																																	0																																										SO:0001651	inframe_deletion	3593			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.309_311delGCT	5.37:g.158750118_158750120delAGC	ENSP00000231228:p.Leu104del			In_Frame_Del	DEL	pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta	p.L104in_frame_del	ENST00000231228.2	37	c.311_309	CCDS4346.1	5																																																																																			IL12B	-	pirsf_IL_12_beta		0.438	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	AGC	NM_002187		158750117	-1	no_errors	ENST00000231228	ensembl	human	known	70_37	in_frame_del	DEL	1.000:0.998:0.990	-	-	158750117	AGC	-	158750115	7	5	90	1	0	1	0	1	0	0	0	0	7645	72	3	0	695	0	IL12B	5	158750115	In_Frame_Del	DEL	AGC	TCGA-EA-A5ZF-01A-11D-A28B-09	18821484	158750115	22165145	16	13055										
PHACTR1	221692	genome.wustl.edu	37	chr6	13206350	13206350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	caacaaaacgctggccatgaCcatgcagaggctggaaaggt	12	10	0	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:13206350C>T	ENST00000379350.1	+	7	1097	c.968C>T	c.(967-969)aCc>aTc	p.T323I	PHACTR1_ENST00000332995.7_Missense_Mutation_p.T323I|PHACTR1_ENST00000457702.2_Missense_Mutation_p.T178I|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	323					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTGGCCATGACCATGCAGAGG	0.637																																																	0													14	15	15					6																	13206350		1986	4159	6145	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.968C>T	6.37:g.13206350C>T	ENSP00000368655:p.Thr323Ile		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.T392I	ENST00000379350.1	37	c.1175		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.916925|3.916925	0.73098|0.73098	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.36878	.|1.23;1.29;1.26	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.111681	.|0.64402	.|D	.|0.000008	T|T	0.37785|0.37785	0.1016|0.1016	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.995;0.995;0.998	.|D;P;D	.|0.71184	.|0.972;0.72;0.917	T|T	0.40098|0.40098	-0.9581|-0.9581	5|10	.|0.72032	.|D	.|0.01	-16.7522|-16.7522	17.1412|17.1412	0.86754|0.86754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|392;323;323	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	S|I	158|323;323;392;178	.|ENSP00000368655:T323I;ENSP00000329880:T323I;ENSP00000397669:T178I	.|ENSP00000329880:T323I	P|T	+|+	1|2	0|0	PHACTR1|PHACTR1	13314329|13314329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.007000|7.007000	0.76335|0.76335	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	CCA|ACC	PHACTR1	-	NULL		0.637	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	C	XM_166420		13206350	1	no_errors	ENST00000432934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13206350	C	T	13206350	3	4	90	1	0	0	0	0	1	0	0	0	11833	507	18	4	990	4	PHACTR1	6	13206350	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		13206350	157908717	17	13056										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34835144	34835144	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tcacccagtggagaagacctCatctttcacccggtcagcag	9	14	5	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:34835144C>G	ENST00000192788.5	+	16	3726	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L	UHRF1BP1_ENST00000452449.2_Silent_p.L1185L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1185							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L1185L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGAAGACCTCATCTTTCACC	0.493																																																	1	Substitution - coding silent(1)	lung(1)											114	113	113					6																	34835144		1925	4121	6046	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3555C>G	6.37:g.34835144C>G			Q9NXE0	Silent	SNP	NULL	p.L1185	ENST00000192788.5	37	c.3555	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL		0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34835144	1	no_errors	ENST00000192788	ensembl	human	known	70_37	silent	SNP	0.521	G	G	34835144	C	G	34835144	2	3	90	1	0	0	0	0	0	0	0	1	16999	813	29	1		1	UHRF1BP1	6	34835144	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	21628794	34835144	136279923	18	13057										
OPN5	221391	genome.wustl.edu	37	chr6	47749898	47749898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tccaaactttcttgggaagcGgatttagtggctggctttta	11	7	1	0	rs375496580		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:47749898G>A	ENST00000371211.2	+	1	124	c.96G>A	c.(94-96)gcG>gcA	p.A32A	OPN5_ENST00000393699.2_Silent_p.A32A|OPN5_ENST00000489301.2_Silent_p.A32A	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	32					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTTGGGAAGCGGATTTAGTGG	0.443																																					Melanoma(28;740 973 10870 42660 45347)												0													116	109	111					6																	47749898		2203	4300	6503	SO:0001819	synonymous_variant	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.96G>A	6.37:g.47749898G>A			A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.A32	ENST00000371211.2	37	c.96	CCDS4923.1	6																																																																																			OPN5	-	NULL		0.443	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	G	NM_181744		47749898	1	no_errors	ENST00000371211	ensembl	human	known	70_37	silent	SNP	0.988	A	A	47749898	G	A	47749898	2	1	90	1	0	0	0	0	0	0	0	1	10907	1103	39	2		2	OPN5	6	47749898	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	12914754	47749898	123365169	19	13058										
MAP3K7	6885	genome.wustl.edu	37	chr6	91254329	91254329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	aatgaagcagttttacggtgGccccgtttaggcttggaata	12	7	0	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:91254329G>A	ENST00000369329.3	-	12	1394	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Silent_p.G411G	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	411					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTTACGGTGGCCCCGTTTAG	0.413																																																	0													124	119	120					6																	91254329		2203	4300	6503	SO:0001819	synonymous_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1233C>T	6.37:g.91254329G>A			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	pirsf_MAPKKK7,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	p.G411	ENST00000369329.3	37	c.1233	CCDS5028.1	6																																																																																			MAP3K7	-	pirsf_MAPKKK7		0.413	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	G	NM_145331		91254329	-1	no_errors	ENST00000369329	ensembl	human	known	70_37	silent	SNP	1.000	A	A	91254329	G	A	91254329	2	1	90	1	0	0	0	0	0	0	0	1	9278	1190	42	4		4	MAP3K7	6	91254329	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	43504431	91254329	79860738	20	13059										
SYNE1	23345	genome.wustl.edu	37	chr6	152639379	152639379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttaactttgaattacagccaTctaattcctctcccagcacc	3	14	2	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:152639379T>C	ENST00000367255.5	-	86	17010	c.16409A>G	c.(16408-16410)gAt>gGt	p.D5470G	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000356820.4_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5399G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5470G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5399G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5470					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTACAGCCATCTAATTCCTC	0.398										HNSCC(10;0.0054)																																							0													100	91	94					6																	152639379		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16409A>G	6.37:g.152639379T>C	ENSP00000356224:p.Asp5470Gly		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D5470G	ENST00000367255.5	37	c.16409	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342512	0.41498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.64618	-0.02;0.05;-0.11;0.05	5.76	5.76	0.90799	.	0.085711	0.49916	D	0.000136	T	0.60222	0.2252	M	0.66939	2.045	0.80722	D	1	P;B;B;B	0.35033	0.481;0.232;0.232;0.342	B;B;B;B	0.43445	0.42;0.067;0.067;0.202	T	0.66252	-0.5970	10	0.62326	D	0.03	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	5470;5470;5470;5399	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	5470;5399;5470;5399	ENSP00000356224:D5470G;ENSP00000396024:D5399G;ENSP00000265368:D5470G;ENSP00000390975:D5399G	ENSP00000265368:D5470G	D	-	2	0	SYNE1	152681072	1.000000	0.71417	0.903000	0.35520	0.820000	0.46376	6.972000	0.76110	2.201000	0.70794	0.533000	0.62120	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	T	NM_182961		152639379	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.998	C	C	152639379	T	C	152639379	3	2	90	1	0	0	0	0	1	0	0	0	15475	1435	50	5	10301	5	SYNE1	6	152639379	Missense_Mutation	SNP	T	TCGA-EA-A5ZF-01A-11D-A28B-09	61385050	152639379	18475688	21	13060										
WBSCR16	81554	genome.wustl.edu	37	chr7	74466872	74466872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	attcccaggcaccctcggatGttcttgccccatacaaacag	7	15	1	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:74466872G>A	ENST00000329959.4	-	10	1318	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	WBSCR16_ENST00000503250.2_Silent_p.N421N	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	421							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACCCTCGGATGTTCTTGCCCC	0.542																																																	0													13	14	14					7																	74466872		1617	3880	5497	SO:0001819	synonymous_variant	81554			AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.1263C>T	7.37:g.74466872G>A			D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.N421	ENST00000329959.4	37	c.1263	CCDS5577.1	7																																																																																			WBSCR16	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.542	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR16	HGNC	protein_coding	OTTHUMT00000252740.1	G	NM_030798		74466872	-1	no_errors	ENST00000329959	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74466872	G	A	74466872	2	1	90	1	0	0	0	0	0	0	0	1	17294	1368	48	4		4	WBSCR16	7	74466872	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		74466872	84671791	22	13061										
ACHE	43	genome.wustl.edu	37	chr7	100490160	100490160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gacccgggcaccctgggcagCcagtcgcccagccagctggg	15	17	0	0	rs535618245		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:100490160C>T	ENST00000412389.1	-	2	1503	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	ACHE_ENST00000411582.1_Missense_Mutation_p.A450T|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000428317.1_Missense_Mutation_p.A450T|ACHE_ENST00000419336.2_Missense_Mutation_p.A362T|ACHE_ENST00000241069.5_Missense_Mutation_p.A450T|ACHE_ENST00000302913.4_Missense_Mutation_p.A450T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	450					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCCTGGGCAGCCAGTCGCCCA	0.687																																																	0													32	36	35					7																	100490160		2203	4299	6502	SO:0001583	missense	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1348G>A	7.37:g.100490160C>T	ENSP00000394976:p.Ala450Thr		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.A450T	ENST00000412389.1	37	c.1348	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865790	0.51588	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.92	3.92	0.45320	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.42744	1.35	0.54753	D	0.999988	D;P;P	0.71674	0.998;0.911;0.558	D;B;B	0.76575	0.988;0.256;0.242	T	0.17653	-1.0362	10	0.45353	T	0.12	.	13.7912	0.63143	0.0:1.0:0.0:0.0	.	362;450;450	P22303-3;P22303-2;P22303	.;.;ACES_HUMAN	T	362;450;450;450;450;450;450	ENSP00000403474:A362T;ENSP00000241069:A450T;ENSP00000414858:A450T;ENSP00000303211:A450T;ENSP00000394976:A450T;ENSP00000404865:A450T	ENSP00000241069:A450T	A	-	1	0	ACHE	100328096	0.981000	0.34729	0.997000	0.53966	0.940000	0.58332	4.152000	0.58111	2.202000	0.70862	0.491000	0.48974	GCT	ACHE	-	pfam_CarbesteraseB		0.687	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	C	NM_015831		100490160	-1	no_errors	ENST00000302913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100490160	C	T	100490160	3	4	90	1	0	0	0	0	1	0	0	0	141	739	26	4	643	4	ACHE	7	100490160	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	26023288	100490160	58648503	23	13062										
RELN	5649	genome.wustl.edu	37	chr7	103243750	103243750	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tatcccagctgttggtcataCcttgctgaagtacagagatg	10	9	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:103243750C>G	ENST00000428762.1	-	24	3493		c.e24+1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGGTCATACCTTGCTGAAG	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													133	113	119					7																	103243750		2203	4300	6503	SO:0001630	splice_region_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3333+1G>C	7.37:g.103243750C>G			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	-	e24+1	ENST00000428762.1	37	c.3333+1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872389	0.91587	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103030986	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.270000	0.78493	2.550000	0.86006	0.655000	0.94253	.	RELN	-	-		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045	Intron	103243750	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	103243750	C	G	103243750	5	3	90	1	0	0	0	0	0	0	1	0	13250	521	18	4	7216	4	RELN	7	103243750	Splice_Site	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	2753590	103243750	55894913	24	13063										
DGKI	9162	genome.wustl.edu	37	chr7	137271863	137271863	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ccctccccagttgagagttcGagccaggtcattcccagtcc	9	16	1	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:137271863G>A	ENST00000288490.5	-	13	1405	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.R469*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R469*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.R169*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	469	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTGAGAGTTCGAGCCAGGTCA	0.552																																																	0													84	77	79					7																	137271863		2203	4300	6503	SO:0001587	stop_gained	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1405C>T	7.37:g.137271863G>A	ENSP00000288490:p.Arg469*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R469*	ENST00000288490.5	37	c.1405	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	40	7.986392	0.98596	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9747	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	169;417;469;469;469	.	ENSP00000288490:R469X	R	-	1	2	DGKI	136922403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.057000	0.49931	2.785000	0.95823	0.650000	0.86243	CGA	DGKI	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.552	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	G	NM_004717		137271863	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	137271863	G	A	137271863	4	1	90	1	0	0	0	0	0	1	0	0	4481	1066	37	1	1880	1	DGKI	7	137271863	Nonsense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	34028113	137271863	21866800	25	13064										
FAM115C	285966	genome.wustl.edu	37	chr7	143417588	143417588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tggcctcccagctgtgagccGggaaaatccagttgccagtg	13	12	0	1	rs2306872	byFrequency	TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:143417588G>A	ENST00000441159.2	+	3	1502	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	FAM115C_ENST00000411935.1_Missense_Mutation_p.R315Q|FAM115C_ENST00000411497.2_Missense_Mutation_p.R198Q|FAM115C_ENST00000425618.2_Missense_Mutation_p.R198Q|FAM115C_ENST00000444908.2_Missense_Mutation_p.R479Q|FAM115C_ENST00000409703.3_Missense_Mutation_p.R315Q|FAM115C_ENST00000357344.4_Missense_Mutation_p.R479Q			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	479					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCTGTGAGCCGGGAAAATCCA	0.622																																																	0																																										SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1436G>A	7.37:g.143417588G>A	ENSP00000404265:p.Arg479Gln		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.R479Q	ENST00000441159.2	37	c.1436		7	.	.	.	.	.	.	.	.	.	.	g	10.61	1.398158	0.25205	.	.	ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.	.	.	3.53	-3.7	0.04437	.	1.518790	0.03450	N	0.210598	T	0.29749	0.0743	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.28439	0.212;0.009;0.028;0.028	B;B;B;B	0.23716	0.048;0.004;0.005;0.009	T	0.07443	-1.0772	9	0.21540	T	0.41	-4.185	4.6961	0.12804	0.4008:0.2044:0.3948:0.0	.	315;479;198;479	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.;F115C_HUMAN;.;.	Q	479;198;479;479;315;315;198	.	ENSP00000349902:R479Q	R	+	2	0	FAM115C	143048521	0.000000	0.05858	0.001000	0.08648	0.697000	0.40408	-1.613000	0.02059	-0.963000	0.03600	0.411000	0.27672	CGG	FAM115C	-	NULL		0.622	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	G	NM_173678		143417588	1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.006	A	A	143417588	G	A	143417588	3	1	90	1	0	0	0	0	1	0	0	0	5421	1116	39	2	1577	2	FAM115C	7	143417588	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	6145725	143417588	15721075	26	13065										
ABCB8	11194	genome.wustl.edu	37	chr7	150730740	150730740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ctcctccgggccgtggcccaCctgcggtcccagctctgggc	13	19	1	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:150730740C>T	ENST00000297504.6	+	3	261	c.195C>T	c.(193-195)caC>caT	p.H65H	ABCB8_ENST00000477092.1_Silent_p.H48H|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000498578.1_Silent_p.H48H|ABCB8_ENST00000358849.4_Silent_p.H48H|ABCB8_ENST00000477719.1_Silent_p.H48H|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000356058.4_Silent_p.H85H			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	65					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCGTGGCCCACCTGCGGTCCC	0.682																																																	0													42	45	44					7																	150730740		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.195C>T	7.37:g.150730740C>T			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H65	ENST00000297504.6	37	c.195		7																																																																																			ABCB8	-	NULL		0.682	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	C	NM_007188		150730740	1	no_errors	ENST00000297504	ensembl	human	known	70_37	silent	SNP	0.854	T	T	150730740	C	T	150730740	2	4	90	1	0	0	0	0	0	0	0	1	47	506	18	4		4	ABCB8	7	150730740	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	7313152	150730740	8407923	27	13066										
DDHD2	23259	genome.wustl.edu	37	chr8	38111109	38111109	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	agacctctgtggcagttaaaGaagaagtcctgcctatcaat	9	9	2	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr8:38111109G>C	ENST00000397166.2	+	16	2452	c.1927G>C	c.(1927-1929)Gaa>Caa	p.E643Q	DDHD2_ENST00000520272.2_Missense_Mutation_p.E643Q|DDHD2_ENST00000517385.1_Missense_Mutation_p.E262Q|DDHD2_ENST00000529845.1_Missense_Mutation_p.E94Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	643	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGCAGTTAAAGAAGAAGTCCT	0.398																																																	0													153	146	149					8																	38111109		2203	4300	6503	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1927G>C	8.37:g.38111109G>C	ENSP00000380352:p.Glu643Gln		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.E643Q	ENST00000397166.2	37	c.1927	CCDS34883.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.781231|2.781231	0.49891|0.49891	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845;ENST00000528613|ENST00000526144	T;T|.	0.33654|.	1.4;1.4|.	4.9|4.9	4.02|4.02	0.46733|0.46733	DDHD (2);|.	0.357947|.	0.31404|.	N|.	0.007716|.	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.17723|0.17723	0.515|0.515	0.33074|0.33074	D|D	0.535757|0.535757	B|.	0.25850|.	0.136|.	B|.	0.32149|.	0.141|.	T|T	0.47459|0.47459	-0.9116|-0.9116	10|6	0.22109|0.20519	T|T	0.4|0.43	-8.401|-8.401	14.71|14.71	0.69222|0.69222	0.0:0.1457:0.8543:0.0|0.0:0.1457:0.8543:0.0	.|.	643|.	O94830|.	DDHD2_HUMAN|.	Q|N	643;643;262;94;11|144	ENSP00000380352:E643Q;ENSP00000429932:E643Q|.	ENSP00000380352:E643Q|ENSP00000437029:K144N	E|K	+|+	1|3	0|2	DDHD2|DDHD2	38230266|38230266	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.314000|0.314000	0.28054|0.28054	2.827000|2.827000	0.48112|0.48112	1.181000|1.181000	0.42912|0.42912	0.462000|0.462000	0.41574|0.41574	GAA|AAG	DDHD2	-	pfam_DDHD,pfscan_DDHD		0.398	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	G	XM_291291		38111109	1	no_errors	ENST00000397166	ensembl	human	known	70_37	missense	SNP	0.986	C	C	38111109	G	C	38111109	3	2	90	1	0	0	0	0	1	0	0	0	4332	943	33	1	2047	1	DDHD2	8	38111109	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		38111109	108252913	28	13067										
SFMBT2	57713	genome.wustl.edu	37	chr10	7318929	7318929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	agagtacatttccattcagaGgccatcttcaaaggatagat	8	8	3	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:7318929G>A	ENST00000361972.4	-	7	885	c.795C>T	c.(793-795)gcC>gcT	p.A265A	SFMBT2_ENST00000397167.1_Silent_p.A265A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	265					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCATTCAGAGGCCATCTTCA	0.403																																																	0													142	136	138					10																	7318929		2203	4300	6503	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.795C>T	10.37:g.7318929G>A			A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.A265	ENST00000361972.4	37	c.795	CCDS31138.1	10																																																																																			SFMBT2	-	NULL		0.403	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	G	NM_001029880		7318929	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	silent	SNP	0.871	A	A	7318929	G	A	7318929	2	1	90	1	0	0	0	0	0	0	0	1	14188	987	35	4		4	SFMBT2	10	7318929	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		7318929	128215818	29	13068										
ALOX5	240	genome.wustl.edu	37	chr10	45924114	45924114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	agctgctggatggcatcgatGccaacaaaacagacccctgc	10	13	0	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:45924114G>A	ENST00000374391.2	+	7	936	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	ALOX5_ENST00000542434.1_Missense_Mutation_p.A295T	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	295	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGCATCGATGCCAACAAAAC	0.527																																																	0													117	101	106					10																	45924114		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.883G>A	10.37:g.45924114G>A	ENSP00000363512:p.Ala295Thr		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.A295T	ENST00000374391.2	37	c.883	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189454	0.38707	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.78126	-1.15;-1.15	5.28	4.36	0.52297	Lipoxygenase, C-terminal (3);	0.307233	0.33712	N	0.004624	T	0.62563	0.2438	L	0.28776	0.89	0.47037	D	0.999292	P;P;P	0.42993	0.554;0.751;0.797	B;B;B	0.37731	0.23;0.257;0.23	T	0.61549	-0.7040	10	0.07175	T	0.84	-19.7763	13.8269	0.63357	0.0:0.1541:0.8459:0.0	.	295;295;295	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	T	295	ENSP00000437634:A295T;ENSP00000363512:A295T	ENSP00000363512:A295T	A	+	1	0	ALOX5	45244120	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.271000	0.51608	1.197000	0.43143	0.655000	0.94253	GCC	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C		0.527	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	G			45924114	1	no_errors	ENST00000374391	ensembl	human	known	70_37	missense	SNP	0.994	A	A	45924114	G	A	45924114	3	1	90	1	0	0	0	0	1	0	0	0	540	1319	46	4	909	4	ALOX5	10	45924114	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	38605185	45924114	89610633	30	13069										
PIK3AP1	118788	genome.wustl.edu	37	chr10	98355335	98355335	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	caggttttaggaggtggaatCagcgtcctctgggtggaaca	15	7	2	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:98355335C>G	ENST00000339364.5	-	17	2536	c.2417G>C	c.(2416-2418)tGa>tCa	p.*806S	PIK3AP1_ENST00000371109.3_Nonstop_Mutation_p.*405S|PIK3AP1_ENST00000371110.2_Nonstop_Mutation_p.*628S	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GAGGTGGAATCAGCGTCCTCT	0.433																																																	0													131	119	123					10																	98355335		2203	4300	6503	SO:0001578	stop_lost	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2417G>C	10.37:g.98355335C>G			Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Nonstop_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.*806S	ENST00000339364.5	37	c.2417	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658679	0.67586	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1861	0.73002	0.0:1.0:0.0:0.0	.	.	.	.	S	806;628;405	.	.	X	-	2	2	PIK3AP1	98345325	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	4.021000	0.57196	2.659000	0.90383	0.563000	0.77884	TGA	PIK3AP1	-	NULL		0.433	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98355335	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	98355335	C	G	98355335	4	3	90	1	0	0	0	0	0	0	0	0	11932	837	29	1	4	1	PIK3AP1	10	98355335	Nonstop_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	52431221	98355335	37179412	31	13070										
TSPAN4	7106	genome.wustl.edu	37	chr11	862623	862623	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gagcttcgccacgctgtcctCttccttcccgtccctgtcgg	9	18	1	0	rs375365291		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:862623C>G	ENST00000397404.1	+	4	396	c.137C>G	c.(136-138)tCt>tGt	p.S46C	TSPAN4_ENST00000346501.4_Missense_Mutation_p.S46C|TSPAN4_ENST00000409531.1_Missense_Mutation_p.S65C|TSPAN4_ENST00000397396.1_5'UTR|TSPAN4_ENST00000397411.2_Missense_Mutation_p.S46C|TSPAN4_ENST00000397397.2_Missense_Mutation_p.S46C|TSPAN4_ENST00000525201.1_5'UTR|TSPAN4_ENST00000409543.2_Missense_Mutation_p.S46C|RP11-1391J7.1_ENST00000506172.2_RNA|TSPAN4_ENST00000397406.1_Missense_Mutation_p.S46C|TSPAN4_ENST00000397408.1_Missense_Mutation_p.S46C	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	46					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCTGTCCTCTTCCTTCCCG	0.642																																																	0													73	67	69					11																	862623		2203	4299	6502	SO:0001583	missense	7106			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.137C>G	11.37:g.862623C>G	ENSP00000380553:p.Ser46Cys		Q6IAP6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S46C	ENST00000397404.1	37	c.137	CCDS7721.1	11	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690475	0.68271	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397408;ENST00000530404;ENST00000397406;ENST00000409543;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	3.67	3.67	0.42095	.	.	.	.	.	D	0.85639	0.5743	M	0.72576	2.205	0.80722	D	1	B	0.33171	0.4	P	0.47981	0.563	D	0.86139	0.1580	9	0.45353	T	0.12	.	15.5926	0.76550	0.0:1.0:0.0:0.0	.	46	O14817	TSN4_HUMAN	C	46;46;46;46;46;46;46;46;65;46	ENSP00000380552:S46C;ENSP00000380558:S46C;ENSP00000380555:S46C;ENSP00000437266:S46C;ENSP00000380554:S46C;ENSP00000386513:S46C;ENSP00000380553:S46C;ENSP00000324304:S46C;ENSP00000386899:S65C;ENSP00000436260:S46C	ENSP00000324304:S46C	S	+	2	0	TSPAN4	852623	0.260000	0.24053	0.996000	0.52242	0.974000	0.67602	4.492000	0.60334	1.903000	0.55091	0.561000	0.74099	TCT	TSPAN4	-	pfam_Tetraspanin/Peripherin		0.642	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN4	HGNC	protein_coding	OTTHUMT00000257102.2	C			862623	1	no_errors	ENST00000397397	ensembl	human	known	70_37	missense	SNP	0.789	G	G	862623	C	G	862623	3	3	90	1	0	0	0	0	1	0	0	0	16680	913	32	1	143	1	TSPAN4	11	862623	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		862623	134143893	32	13071										
BRSK2	9024	genome.wustl.edu	37	chr11	1471062	1471062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	caccagcccactcagcagccCccgggtgagtgaccccccgc	10	21	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:1471062C>A	ENST00000528841.1	+	13	1667	c.1283C>A	c.(1282-1284)cCc>cAc	p.P428H	BRSK2_ENST00000531197.1_Missense_Mutation_p.P428H|BRSK2_ENST00000528710.1_Missense_Mutation_p.P368H|BRSK2_ENST00000308230.5_Missense_Mutation_p.P450H|BRSK2_ENST00000382179.1_Missense_Mutation_p.P474H|BRSK2_ENST00000526678.1_Missense_Mutation_p.P450H|BRSK2_ENST00000308219.9_Missense_Mutation_p.P428H|BRSK2_ENST00000544817.1_Missense_Mutation_p.P123H			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	428	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCAGCAGCCCCCGGGTGAGT	0.701																																																	0													49	57	55					11																	1471062		1970	4152	6122	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1283C>A	11.37:g.1471062C>A	ENSP00000432000:p.Pro428His		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.P474H	ENST00000528841.1	37	c.1421	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872431	0.72180	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	4.11	2.2	0.27929	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.66086	0.2754	M	0.67953	2.075	0.52099	D	0.999945	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.912;0.996;0.926;0.992	T	0.66575	-0.5889	10	0.87932	D	0	.	8.9896	0.36014	0.0:0.8135:0.0:0.1865	.	450;474;428;428;428	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	H	428;428;450;428;450;368;474;123	ENSP00000310697:P428H;ENSP00000431152:P428H;ENSP00000310805:P450H;ENSP00000432000:P428H;ENSP00000433370:P450H;ENSP00000433235:P368H;ENSP00000371614:P474H;ENSP00000445168:P123H	ENSP00000310697:P428H	P	+	2	0	BRSK2	1427638	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	7.379000	0.79691	0.717000	0.32145	0.297000	0.19635	CCC	BRSK2	-	superfamily_Kinase-like_dom		0.701	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	C	NM_003957		1471062	1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1471062	C	A	1471062	3	1	90	1	0	0	0	0	1	0	0	0	1527	623	22	4	1333	4	BRSK2	11	1471062	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	608439	1471062	133535454	33	13072										
CNGA4	1262	genome.wustl.edu	37	chr11	6261670	6261670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ctggctttgagcgcctgcggCgccagtacctctatagcttt	11	13	1	1	rs371882863		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:6261670C>T	ENST00000379936.2	+	4	761	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	216					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGCCTGCGGCGCCAGTACCT	0.602																																																	0								C	CYS/ARG	0,4402		0,0,2201	59	67	64		646	5.2	1	11		64	1,8591	1.2+/-3.3	0,1,4295	no	missense	CNGA4	NM_001037329.3	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	216/576	6261670	1,12993	2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.646C>T	11.37:g.6261670C>T	ENSP00000369268:p.Arg216Cys			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R216C	ENST00000379936.2	37	c.646	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.271144	0.95429	0.0	1.16E-4	ENSG00000132259	ENST00000379936	D	0.97505	-4.41	5.25	5.25	0.73442	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.90922	3.16	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.53401	0.725;0.7	D	0.99246	1.0886	10	0.72032	D	0.01	.	17.7596	0.88461	0.0:1.0:0.0:0.0	.	216;176	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	C	216	ENSP00000369268:R216C	ENSP00000369268:R216C	R	+	1	0	CNGA4	6218246	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.780000	0.55386	2.602000	0.87976	0.650000	0.86243	CGC	CNGA4	-	pfam_Ion_trans_dom		0.602	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	C	NM_001037329		6261670	1	no_errors	ENST00000379936	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6261670	C	T	6261670	3	4	90	1	0	0	0	0	1	0	0	0	3604	768	27	2	660	2	CNGA4	11	6261670	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	4790608	6261670	128744846	34	13073										
TP53I11	9537	genome.wustl.edu	37	chr11	44959840	44959840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tcaggcggctcacgaggtccGtctggctgtgcttcttcatc	12	13	5	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:44959840G>A	ENST00000533940.1	-	5	651	c.47C>T	c.(46-48)aCg>aTg	p.T16M	TP53I11_ENST00000308212.5_Missense_Mutation_p.T16M|TP53I11_ENST00000525680.1_Missense_Mutation_p.T16M|TP53I11_ENST00000395648.3_Missense_Mutation_p.T16M|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000531928.2_Missense_Mutation_p.T16M	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	16					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CACGAGGTCCGTCTGGCTGTG	0.677																																																	0													38	39	39					11																	44959840		2203	4299	6502	SO:0001583	missense	9537			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.47C>T	11.37:g.44959840G>A	ENSP00000436152:p.Thr16Met		Q3ZCS0	Missense_Mutation	SNP	NULL	p.T16M	ENST00000533940.1	37	c.47	CCDS7911.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958362	0.74016	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000533940;ENST00000525680;ENST00000528473;ENST00000528290;ENST00000525683;ENST00000525138;ENST00000533443;ENST00000530035;ENST00000527685;ENST00000533937	.	.	.	5.09	5.09	0.68999	.	0.896444	0.09873	N	0.744699	T	0.80829	0.4698	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77846	-0.2436	9	0.59425	D	0.04	.	18.4961	0.90865	0.0:0.0:1.0:0.0	.	16	O14683	P5I11_HUMAN	M	16;16;16;16;16;16;16;44;16;16;16;16	.	ENSP00000309532:T16M	T	-	2	0	TP53I11	44916416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.533000	0.98059	2.354000	0.79902	0.561000	0.74099	ACG	TP53I11	-	NULL		0.677	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TP53I11	HGNC	protein_coding	OTTHUMT00000389909.1	G	NM_006034		44959840	-1	no_errors	ENST00000354556	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44959840	G	A	44959840	3	1	90	1	0	0	0	0	1	0	0	0	16416	1145	40	2	546	2	TP53I11	11	44959840	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	38698170	44959840	90046676	35	13074										
OR6Q1	219952	genome.wustl.edu	37	chr11	57799064	57799064	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ctctggctgtgctactggccTcctctatggtcattgctgtg	11	12	3	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:57799064T>G	ENST00000302622.3	+	1	663	c.640T>G	c.(640-642)Tcc>Gcc	p.S214A	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCTACTGGCCTCCTCTATGGT	0.552																																																	0													197	168	178					11																	57799064		2201	4296	6497	SO:0001583	missense	219952			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.640T>G	11.37:g.57799064T>G	ENSP00000307734:p.Ser214Ala		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S214A	ENST00000302622.3	37	c.640	CCDS31541.1	11	.	.	.	.	.	.	.	.	.	.	T	7.810	0.715437	0.15306	.	.	ENSG00000172381	ENST00000302622	T	0.37235	1.21	5.0	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002088	T	0.31420	0.0796	L	0.60845	1.875	0.09310	N	1	P	0.37207	0.587	B	0.37091	0.241	T	0.14643	-1.0465	10	0.32370	T	0.25	.	7.2262	0.26016	0.0:0.1762:0.0:0.8238	.	214	Q8NGQ2	OR6Q1_HUMAN	A	214	ENSP00000307734:S214A	ENSP00000307734:S214A	S	+	1	0	OR6Q1	57555640	0.000000	0.05858	0.042000	0.18584	0.122000	0.20287	-0.298000	0.08265	0.777000	0.33496	0.519000	0.50382	TCC	OR6Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Q1	HGNC	protein_coding	OTTHUMT00000401257.1	T	NM_001005186		57799064	1	no_errors	ENST00000302622	ensembl	human	known	70_37	missense	SNP	0.043	G	G	57799064	T	G	57799064	3	3	90	1	0	0	0	0	1	0	0	0	11232	1551	54	5	642	5	OR6Q1	11	57799064	Missense_Mutation	SNP	T	TCGA-EA-A5ZF-01A-11D-A28B-09	12839224	57799064	77207452	36	13075										
UNC93B1	81622	genome.wustl.edu	37	chr11	67759294	67759294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gcaggtaggagaccgcggccGccaccagcgtcaccagcagc	14	16	1	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:67759294G>A	ENST00000227471.2	-	12	1593	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GACCGCGGCCGCCACCAGCGT	0.741																																																	0																																										SO:0001583	missense	81622			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1514C>T	11.37:g.67759294G>A	ENSP00000227471:p.Ala505Val		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A505V	ENST00000227471.2	37	c.1514		11	.	.	.	.	.	.	.	.	.	.	.	10.95	1.496767	0.26861	.	.	ENSG00000110057	ENST00000227471	T	0.79749	-1.3	4.98	-0.0425	0.13863	.	0.513281	0.19593	N	0.110568	T	0.57066	0.2028	.	.	.	0.27788	N	0.942937	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	9	0.13853	T	0.58	-21.2113	3.8158	0.08815	0.3148:0.3786:0.3065:0.0	.	506	Q9H1C4	UN93B_HUMAN	V	505	ENSP00000227471:A505V	ENSP00000227471:A505V	A	-	2	0	UNC93B1	67515870	0.006000	0.16342	0.914000	0.36105	0.889000	0.51656	0.211000	0.17474	0.486000	0.27676	0.491000	0.48974	GCG	UNC93B1	-	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		G	NM_030930		67759294	-1	no_errors	ENST00000227471	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67759294	G	A	67759294	3	1	90	1	0	0	0	0	1	0	0	0	17028	1087	38	2	280	2	UNC93B1	11	67759294	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	9960230	67759294	67247222	37	13076										
GAB2	9846	genome.wustl.edu	37	chr11	77934520	77934520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gaatctcacttcctctgctgGggcctcggtgcacaggaagg	13	12	2	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:77934520G>A	ENST00000361507.4	-	6	1590	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	GAB2_ENST00000340149.2_Missense_Mutation_p.P464L	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	502					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTCTGCTGGGGCCTCGGTG	0.547																																																	0													175	165	168					11																	77934520		2200	4292	6492	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1505C>T	11.37:g.77934520G>A	ENSP00000354952:p.Pro502Leu		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P502L	ENST00000361507.4	37	c.1505	CCDS8259.1	11	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695067	0.48202	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.39997	1.05;1.05	4.67	3.76	0.43208	.	0.297245	0.30159	U	0.010266	T	0.30947	0.0781	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12528	-1.0544	10	0.51188	T	0.08	-6.2426	8.2727	0.31853	0.0846:0.0:0.7239:0.1915	.	502	Q9UQC2	GAB2_HUMAN	L	464;502	ENSP00000343959:P464L;ENSP00000354952:P502L	ENSP00000343959:P464L	P	-	2	0	GAB2	77612168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.946000	0.75953	1.331000	0.45412	0.561000	0.74099	CCC	GAB2	-	NULL		0.547	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1	G	NM_080491		77934520	-1	no_errors	ENST00000361507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77934520	G	A	77934520	3	1	90	1	0	0	0	0	1	0	0	0	6167	1232	43	4	545	4	GAB2	11	77934520	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	10175226	77934520	57071996	38	13077										
SCN2B	6327	genome.wustl.edu	37	chr11	118037789	118037789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tcacggccaccgtggagtccCgctcagggggctctggaaag	15	13	3	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:118037789C>T	ENST00000278947.5	-	4	702	c.461G>A	c.(460-462)cGg>cAg	p.R154Q		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	154	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTGGAGTCCCGCTCAGGGGG	0.617																																																	0													60	61	61					11																	118037789		2200	4296	6496	SO:0001583	missense	6327			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.461G>A	11.37:g.118037789C>T	ENSP00000278947:p.Arg154Gln		O75302|Q9UNN3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0	p.R154Q	ENST00000278947.5	37	c.461	CCDS8390.1	11	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682862	0.88542	.	.	ENSG00000149575	ENST00000278947	D	0.97186	-4.28	5.04	5.04	0.67666	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95968	0.8687	L	0.57536	1.79	0.80722	D	1	D	0.60160	0.987	P	0.45377	0.478	D	0.94772	0.7946	10	0.25106	T	0.35	-25.2394	18.1626	0.89714	0.0:1.0:0.0:0.0	.	154	O60939	SCN2B_HUMAN	Q	154	ENSP00000278947:R154Q	ENSP00000278947:R154Q	R	-	2	0	SCN2B	117542999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.818000	0.62657	2.640000	0.89533	0.655000	0.94253	CGG	SCN2B	-	NULL		0.617	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN2B	HGNC	protein_coding	OTTHUMT00000109748.2	C	NM_004588		118037789	-1	no_errors	ENST00000278947	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118037789	C	T	118037789	3	4	90	1	0	0	0	0	1	0	0	0	13947	652	23	2	190	2	SCN2B	11	118037789	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	40103269	118037789	16968727	39	13078										
OR8D4	338662	genome.wustl.edu	37	chr11	123777849	123777849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	aaaaagggcaggtgcaaagcGtttagcacctgtagctccca	11	10	0	0	rs568693746		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:123777849G>A	ENST00000321355.2	+	1	741	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GGTGCAAAGCGTTTAGCACCT	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		18269	0		0	False		,,,				2504	0																0													113	112	113					11																	123777849		2202	4299	6501	SO:0001819	synonymous_variant	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.711G>A	11.37:g.123777849G>A			Q6IFE9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237	ENST00000321355.2	37	c.711	CCDS31698.1	11																																																																																			OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1	G	NM_001005197		123777849	1	no_errors	ENST00000321355	ensembl	human	known	70_37	silent	SNP	0.962	A	A	123777849	G	A	123777849	2	1	90	1	0	0	0	0	0	0	0	1	11257	1132	40	2		2	OR8D4	11	123777849	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	5740060	123777849	11228667	40	13079										
KRT72	140807	genome.wustl.edu	37	chr12	52984671	52984671	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	atcctctggatcaggcggttGagctcagagatttcagcctt	11	10	4	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr12:52984671G>A	ENST00000537672.2	-	6	1048	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	KRT72_ENST00000398066.3_Silent_p.L158L|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Silent_p.L346L	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	346	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCAGGCGGTTGAGCTCAGAGA	0.498																																																	0													104	96	99					12																	52984671		2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1038C>T	12.37:g.52984671G>A			B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L346	ENST00000537672.2	37	c.1038	CCDS8833.1	12																																																																																			KRT72	-	pfam_F,superfamily_Prefoldin		0.498	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	G	NM_080747		52984671	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52984671	G	A	52984671	2	1	90	1	0	0	0	0	0	0	0	1	8505	1277	45	1		1	KRT72	12	52984671	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		52984671	80867224	41	13080										
ARHGAP9	64333	genome.wustl.edu	37	chr12	57867943	57867943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tcatcccactcagtactgtcCaaatctaaccgaccttctgg	5	15	4	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr12:57867943C>T	ENST00000356411.2	-	16	1995	c.1857G>A	c.(1855-1857)ttG>ttA	p.L619L	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Silent_p.L690L|ARHGAP9_ENST00000424809.2_Silent_p.L600L|ARHGAP9_ENST00000550288.1_Silent_p.L679L|ARHGAP9_ENST00000393791.3_Silent_p.L600L|ARHGAP9_ENST00000430041.2_Silent_p.L416L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	619	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGTACTGTCCAAATCTAACC	0.537																																																	0													46	50	49					12																	57867943		2203	4300	6503	SO:0001819	synonymous_variant	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1857G>A	12.37:g.57867943C>T			B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.L619	ENST00000356411.2	37	c.1857		12																																																																																			ARHGAP9	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.537	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		C	NM_032496		57867943	-1	no_errors	ENST00000356411	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57867943	C	T	57867943	2	4	90	1	0	0	0	0	0	0	0	1	889	593	21	4		4	ARHGAP9	12	57867943	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	4883272	57867943	75983952	42	13081										
SERPINA4	5267	genome.wustl.edu	37	chr14	95030000	95030000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ccaatgctgactttgccttcCgcttctactacctgatcgct	6	15	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr14:95030000C>T	ENST00000557004.1	+	2	602	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R61C|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R61C			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	61					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTTGCCTTCCGCTTCTACTA	0.592																																																	0													84	77	80					14																	95030000		2203	4300	6503	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.181C>T	14.37:g.95030000C>T	ENSP00000450838:p.Arg61Cys		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R61C	ENST00000557004.1	37	c.181	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843602	0.51164	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85411	-1.98;-1.98;-1.98	4.38	-2.21	0.06973	Serpin domain (3);	0.695493	0.11957	N	0.513120	D	0.88455	0.6441	M	0.69523	2.12	0.09310	N	1	D;D	0.76494	0.999;0.964	D;B	0.67725	0.953;0.397	T	0.78902	-0.2021	10	0.66056	D	0.02	.	6.7059	0.23250	0.5848:0.2538:0.0:0.1613	.	61;61	B2R815;P29622	.;KAIN_HUMAN	C	61	ENSP00000450838:R61C;ENSP00000451172:R61C;ENSP00000298841:R61C	ENSP00000298841:R61C	R	+	1	0	SERPINA4	94099753	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-2.170000	0.01268	-0.283000	0.09115	0.563000	0.77884	CGC	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.592	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	C	NM_006215		95030000	1	no_errors	ENST00000298841	ensembl	human	known	70_37	missense	SNP	0.002	T	T	95030000	C	T	95030000	3	4	90	1	0	0	0	0	1	0	0	0	14121	652	23	2	183	2	SERPINA4	14	95030000	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		95030000	12319540	43	13082										
C15orf2	23742	genome.wustl.edu	37	chr15	24922847	24922847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	atacattgcagtgcagagcaGaggcacccgggaaagacatc	12	10	0	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:24922847G>A	ENST00000329468.2	+	1	2307	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGCAGAGCAGAGGCACCCGG	0.463																																																	0													86	98	94					15																	24922847		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1833G>A	15.37:g.24922847G>A				Silent	SNP	NULL	p.Q611	ENST00000329468.2	37	c.1833	CCDS10015.1	15																																																																																			NPAP1	-	NULL		0.463	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	G	NM_018958		24922847	1	no_errors	ENST00000329468	ensembl	human	known	70_37	silent	SNP	0.006	A	A	24922847	G	A	24922847	2	1	90	1	0	0	0	0	0	0	0	1	1788	933	33	1		1	C15orf2	15	24922847	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		24922847	77608545	44	13083										
CAPN3	825	genome.wustl.edu	37	chr15	42695076	42695076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gcaaaacctacatcaacatgCgggaggtgtcccagcgcttc	10	13	1	0	rs142004418		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:42695076C>T	ENST00000397163.3	+	13	1840	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	CAPN3_ENST00000318023.7_Missense_Mutation_p.R541W|CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000357568.3_Missense_Mutation_p.R541W|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.R493W|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.R454W|CAPN3_ENST00000397200.4_Missense_Mutation_p.R29W	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	541	Domain III.		R -> Q (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATCAACATGCGGGAGGTGTC	0.597																																																	0			GRCh37	CM040390	CAPN3	M	rs142004418	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	128	101	110		1621,1621,1477,85	4.9	1	15	dbSNP_134	110	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1	101,101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	541/822,541/816,493/730,29/310	42695076	1,13003	2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1621C>T	15.37:g.42695076C>T	ENSP00000380349:p.Arg541Trp		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R541W	ENST00000397163.3	37	c.1621	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308223	0.81247	0.0	1.16E-4	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.64402	U	0.000001	D	0.96673	0.8914	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;0.998;0.999;0.999	D	0.97213	0.9872	10	0.87932	D	0	.	12.0959	0.53755	0.295:0.7049:0.0:0.0	.	406;454;493;541;541;454	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	W	454;29;541;541;493;541;29	ENSP00000348667:R454W;ENSP00000380349:R541W;ENSP00000350181:R541W;ENSP00000183936:R493W;ENSP00000326281:R541W;ENSP00000380384:R29W	ENSP00000326281:R541W	R	+	1	2	CAPN3	40482368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.527000	0.60573	2.527000	0.85204	0.455000	0.32223	CGG	CAPN3	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.597	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42695076	1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42695076	C	T	42695076	3	4	90	1	0	0	0	0	1	0	0	0	2633	759	27	2	1723	2	CAPN3	15	42695076	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	17772229	42695076	59836316	45	13084										
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84657473	84657473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gatggaactgggaagatacaGatacagaatcctacaaggaa	11	6	0	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:84657473G>A	ENST00000286744.5	+	22	3971	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Silent_p.Q1249Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1249	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAGATACAGATACAGAATC	0.378																																																	0													123	119	120					15																	84657473		2203	4300	6503	SO:0001819	synonymous_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3747G>A	15.37:g.84657473G>A			A1A566|A1A567|Q9ULI7	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.Q1249	ENST00000286744.5	37	c.3747	CCDS10326.1	15																																																																																			ADAMTSL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84657473	1	no_errors	ENST00000286744	ensembl	human	known	70_37	silent	SNP	1.000	A	A	84657473	G	A	84657473	2	1	90	1	0	0	0	0	0	0	0	1	276	933	33	1		1	ADAMTSL3	15	84657473	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	41962397	84657473	17873919	46	13085										
A2BP1	54715	genome.wustl.edu	37	chr16	7645614	7645614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gggcgagggagaaattacacGgcaccgtggtagagggccgt	18	8	0	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:7645614G>A	ENST00000550418.1	+	8	1520	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	RBFOX1_ENST00000436368.2_Missense_Mutation_p.G198S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G195S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G178S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G198S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G178S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G198S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G221S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G221S|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G183S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	178	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GAAATTACACGGCACCGTGGT	0.453																																					Ovarian(157;934 2567 15163 39509)												0													175	155	162					16																	7645614		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.532G>A	16.37:g.7645614G>A	ENSP00000450031:p.Gly178Ser		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.G221S	ENST00000550418.1	37	c.661	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321730	0.81580	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.83223	2.63	0.80722	D	1	P;P;D;P;D;P;D;D	0.89917	0.582;0.9;1.0;0.946;1.0;0.716;0.988;0.986	B;P;D;P;D;B;P;P	0.97110	0.248;0.49;1.0;0.476;0.997;0.358;0.746;0.742	T	0.75246	-0.3385	10	0.59425	D	0.04	-9.0831	19.975	0.97300	0.0:0.0:1.0:0.0	.	198;221;198;198;198;178;178;221	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	S	177;178;178;221;221;195;178;178;198;198;198;198;183	ENSP00000450402:G177S;ENSP00000450031:G178S;ENSP00000447753:G178S;ENSP00000446842:G221S;ENSP00000391269:G221S;ENSP00000448496:G195S;ENSP00000447281:G178S;ENSP00000447717:G178S;ENSP00000402745:G198S;ENSP00000309117:G198S;ENSP00000347855:G198S;ENSP00000344196:G183S	ENSP00000309117:G198S	G	+	1	0	RBFOX1	7585615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.724000	0.93272	0.585000	0.79938	GGC	RBFOX1	-	pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom		0.453	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		7645614	1	no_errors	ENST00000547372	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7645614	G	A	7645614	3	1	90	1	0	0	0	0	1	0	0	0	3	1116	39	2	641	2	A2BP1	16	7645614	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		7645614	82709139	47	13086										
COQ7	10229	genome.wustl.edu	37	chr16	19083257	19083257	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	acttgcatttcagcttatggAagaagaaccagtgtcagatt	9	7	2	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:19083257A>G	ENST00000321998.5	+	2	147	c.81A>G	c.(79-81)ggA>ggG	p.G27G	COQ7_ENST00000568985.1_Silent_p.G27G|COQ7_ENST00000569127.1_Silent_p.G4G|COQ7_ENST00000544894.2_5'UTR	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	27					age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CAGCTTATGGAAGAAGAACCA	0.438											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153	137	143					16																	19083257		2197	4300	6497	SO:0001819	synonymous_variant	10229			U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.81A>G	16.37:g.19083257A>G		730	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Silent	SNP	pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like	p.G27	ENST00000321998.5	37	c.81	CCDS10574.1	16																																																																																			COQ7	-	NULL		0.438	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COQ7	HGNC	protein_coding	OTTHUMT00000254275.3	A	NM_016138		19083257	1	no_errors	ENST00000321998	ensembl	human	known	70_37	silent	SNP	0.028	G	G	19083257	A	G	19083257	2	3	90	1	0	0	0	0	0	0	0	1	3755	233	9	5		5	COQ7	16	19083257	Silent	SNP	A	TCGA-EA-A5ZF-01A-11D-A28B-09	11437643	19083257	71271496	48	13087										
ARHGAP17	55114	genome.wustl.edu	37	chr16	24942596	24942596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tgtgctgggtgggaggagagGggcttcgggtgggtggcttt	23	4	0	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:24942596G>A	ENST00000289968.6	-	19	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P597L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	675	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGAGGAGAGGGGCTTCGGGT	0.662																																																	0													47	58	54					16																	24942596		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2024C>T	16.37:g.24942596G>A	ENSP00000289968:p.Pro675Leu		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P675L	ENST00000289968.6	37	c.2024	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096920	0.56075	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22134	1.97;2.06	5.27	5.27	0.74061	.	0.000000	0.44097	D	0.000493	T	0.33731	0.0873	M	0.62723	1.935	0.80722	D	1	P;B;P;D	0.54207	0.557;0.421;0.728;0.965	B;B;P;P	0.51016	0.295;0.154;0.447;0.656	T	0.02450	-1.1157	10	0.33940	T	0.23	.	16.3735	0.83374	0.0:0.0:1.0:0.0	.	597;675;208;508	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	L	675;597;675	ENSP00000289968:P675L;ENSP00000303130:P597L	ENSP00000289968:P675L	P	-	2	0	ARHGAP17	24850097	1.000000	0.71417	0.477000	0.27303	0.991000	0.79684	3.100000	0.50275	2.449000	0.82847	0.462000	0.41574	CCC	ARHGAP17	-	NULL		0.662	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	G	NM_018054		24942596	-1	no_errors	ENST00000289968	ensembl	human	known	70_37	missense	SNP	0.993	A	A	24942596	G	A	24942596	3	1	90	1	0	0	0	0	1	0	0	0	867	1232	43	4	629	4	ARHGAP17	16	24942596	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	5859339	24942596	65412157	49	13088										
CD19	930	genome.wustl.edu	37	chr16	28950043	28950043	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ggaatcctgtatgcagccccCcagctccgctccattcgggg	11	16	0	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:28950043C>G	ENST00000324662.3	+	13	1577	c.1533C>G	c.(1531-1533)ccC>ccG	p.P511P	CD19_ENST00000538922.1_Silent_p.P512P|CD19_ENST00000567541.1_Silent_p.P512P			P15391	CD19_HUMAN	CD19 molecule	511					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGCAGCCCCCCAGCTCCGCT	0.607																																																	0													79	76	77					16																	28950043		2197	4300	6497	SO:0001819	synonymous_variant	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1533C>G	16.37:g.28950043C>G			A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.P512	ENST00000324662.3	37	c.1536	CCDS10644.1	16																																																																																			CD19	-	NULL		0.607	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	C			28950043	1	no_errors	ENST00000538922	ensembl	human	known	70_37	silent	SNP	1.000	G	G	28950043	C	G	28950043	2	3	90	1	0	0	0	0	0	0	0	1	2978	610	22	4		4	CD19	16	28950043	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	4007447	28950043	61404710	50	13089										
CWC25	54883	genome.wustl.edu	37	chr17	36958427	36958427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gcttcacccgatcctccaggGaggaagtagatgcactctcc	10	14	2	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:36958427G>A	ENST00000225428.5	-	10	1493	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	CWC25_ENST00000536127.1_Missense_Mutation_p.S336F|PIP4K2B_ENST00000269554.3_5'Flank|PIP4K2B_ENST00000311500.6_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	399										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATCCTCCAGGGAGGAAGTAGA	0.443																																																	0													60	58	59					17																	36958427		1902	4125	6027	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1196C>T	17.37:g.36958427G>A	ENSP00000225428:p.Ser399Phe		A0JLM3|Q68DK5	Missense_Mutation	SNP	pfam_CWC25,pfam_CIR_N_dom	p.S399F	ENST00000225428.5	37	c.1196	CCDS45663.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833681	0.91036	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.05	5.05	0.67936	.	0.110818	0.64402	D	0.000005	T	0.75591	0.3870	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.994;0.981	P;P	0.59288	0.855;0.77	T	0.78831	-0.2049	9	0.87932	D	0	.	17.1303	0.86724	0.0:0.0:1.0:0.0	.	336;399	B4DJK2;Q9NXE8	.;CWC25_HUMAN	F	399;336	.	ENSP00000225428:S399F	S	-	2	0	CWC25	34211953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.511000	0.67024	2.633000	0.89246	0.563000	0.77884	TCC	CWC25	-	NULL		0.443	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	G	NM_017748		36958427	-1	no_errors	ENST00000225428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36958427	G	A	36958427	3	1	90	1	0	0	0	0	1	0	0	0	4074	1174	41	1	85	1	CWC25	17	36958427	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		36958427	44236783	51	13090										
NAGS	162417	genome.wustl.edu	37	chr17	42084059	42084059	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ccgctagcacgctgctcactGagctctttagcaacaagggt	10	13	2	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:42084059G>T	ENST00000293404.3	+	4	1196	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	360	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGCTCACTGAGCTCTTTAG	0.677																																																	0													19	17	17					17																	42084059		2184	4260	6444	SO:0001587	stop_gained	162417			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1078G>T	17.37:g.42084059G>T	ENSP00000293404:p.Glu360*		B2RAZ9|Q8IWR4	Nonsense_Mutation	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.E360*	ENST00000293404.3	37	c.1078	CCDS11473.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.919634	0.97105	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	.	.	.	5.11	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-33.5258	7.3003	0.26415	0.09:0.0:0.7391:0.171	.	.	.	.	X	194;360	.	ENSP00000293404:E360X	E	+	1	0	NAGS	39439585	1.000000	0.71417	0.845000	0.33349	0.916000	0.54674	6.184000	0.72008	1.117000	0.41842	0.561000	0.74099	GAG	NAGS	-	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,pirsf_GlcNAc_Synth_met		0.677	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1	G	NM_153006		42084059	1	no_errors	ENST00000293404	ensembl	human	known	70_37	nonsense	SNP	0.973	T	T	42084059	G	T	42084059	4	4	90	1	0	0	0	0	0	1	0	0	10168	1291	45	3	1092	3	NAGS	17	42084059	Nonsense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	5125632	42084059	39111151	52	13091										
C17orf46	124783	genome.wustl.edu	37	chr17	43333141	43333141	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gacacgtggttctcctccgtGaaactccggcagtttgaatt	10	11	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:43333141G>A	ENST00000331780.4	-	4	503	c.408C>T	c.(406-408)ttC>ttT	p.F136F	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_Silent_p.F115F	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	136					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.F136F(1)									TCTCCTCCGTGAAACTCCGGC	0.567																																																	1	Substitution - coding silent(1)	lung(1)											97	94	95					17																	43333141		2203	4300	6503	SO:0001819	synonymous_variant	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.408C>T	17.37:g.43333141G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.F136	ENST00000331780.4	37	c.408	CCDS32669.1	17																																																																																			SPATA32	-	NULL		0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43333141	-1	no_errors	ENST00000331780	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43333141	G	A	43333141	2	1	90	1	0	0	0	0	0	0	0	1	1861	1281	45	1		1	C17orf46	17	43333141	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	1249082	43333141	37862069	53	13092										
RBBP8	5932	genome.wustl.edu	37	chr18	20576348	20576348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttacctaagatgtatcctttGaaaatatccagtggagtata	7	6	0	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr18:20576348G>C	ENST00000399722.2	+	13	2302	c.1951G>C	c.(1951-1953)Gaa>Caa	p.E651Q	RBBP8_ENST00000360790.5_Missense_Mutation_p.E651Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E651Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E651Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	651					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGTATCCTTTGAAAATATCCA	0.308								Homologous recombination																																									0													65	68	67					18																	20576348		2203	4299	6502	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1951G>C	18.37:g.20576348G>C	ENSP00000382628:p.Glu651Gln		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.E651Q	ENST00000399722.2	37	c.1951	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261068	0.59431	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T	0.39406	1.14;1.08;1.14;1.14	6.02	6.02	0.97574	.	0.142736	0.49305	D	0.000155	T	0.61022	0.2314	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.969;0.998;0.969	P;P;P	0.58620	0.621;0.842;0.621	T	0.60505	-0.7250	10	0.72032	D	0.01	-24.9235	20.5407	0.99260	0.0:0.0:1.0:0.0	.	651;651;651	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Q	651	ENSP00000323050:E651Q;ENSP00000382630:E651Q;ENSP00000382628:E651Q;ENSP00000354024:E651Q	ENSP00000323050:E651Q	E	+	1	0	RBBP8	18830346	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.740000	0.74832	2.865000	0.98341	0.655000	0.94253	GAA	RBBP8	-	NULL		0.308	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	G	NM_203291		20576348	1	no_errors	ENST00000327155	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20576348	G	C	20576348	3	2	90	1	0	0	0	0	1	0	0	0	13135	1291	45	1	1997	1	RBBP8	18	20576348	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		20576348	57500900	54	13093										
DCC	1630	genome.wustl.edu	37	chr18	51013194	51013194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gagcgccatcccggtgccaaCgctagaaagtgcccagtacc	11	15	0	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr18:51013194C>T	ENST00000442544.2	+	26	4380	c.3764C>T	c.(3763-3765)aCg>aTg	p.T1255M	DCC_ENST00000581580.1_Missense_Mutation_p.T890M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1255					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGGTGCCAACGCTAGAAAGT	0.512																																																	0													114	103	107					18																	51013194		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3764C>T	18.37:g.51013194C>T	ENSP00000389140:p.Thr1255Met			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1255M	ENST00000442544.2	37	c.3764	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776825	0.31411	.	.	ENSG00000187323	ENST00000442544	T	0.53640	0.61	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.075451	0.53938	D	0.000060	T	0.61726	0.2370	L	0.44542	1.39	0.53005	D	0.999968	D	0.89917	1.0	D	0.67725	0.953	T	0.63963	-0.6518	10	0.72032	D	0.01	-9.2951	17.8261	0.88666	0.0:1.0:0.0:0.0	.	1255	P43146	DCC_HUMAN	M	1255	ENSP00000389140:T1255M	ENSP00000389140:T1255M	T	+	2	0	DCC	49267192	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	6.474000	0.73578	2.499000	0.84300	0.462000	0.41574	ACG	DCC	-	pfam_Neogenin_C		0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		51013194	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51013194	C	T	51013194	3	4	90	1	0	0	0	0	1	0	0	0	4287	536	19	2	3866	2	DCC	18	51013194	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	30436846	51013194	27064054	55	13094										
ABCA7	10347	genome.wustl.edu	37	chr19	1063796	1063796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	catggaccccagcgcgcggcGcttcctttggaacagccttt	11	15	0	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:1063796G>A	ENST00000263094.6	+	44	6116	c.5885G>A	c.(5884-5886)cGc>cAc	p.R1962H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R1962H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R1824H|HMHA1_ENST00000539243.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1962	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCGCGGCGCTTCCTTTGG	0.672																																																	0													26	26	26					19																	1063796		2090	4124	6214	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5885G>A	19.37:g.1063796G>A	ENSP00000263094:p.Arg1962His		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1962H	ENST00000263094.6	37	c.5885	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940842	0.52972	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97328	-4.34;-4.34	3.39	2.3	0.28687	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.95452	0.8523	L	0.50993	1.605	0.37848	D	0.929293	P;D	0.60575	0.944;0.988	P;P	0.48552	0.57;0.581	D	0.95290	0.8394	9	0.87932	D	0	.	9.6693	0.40002	0.1117:0.0:0.8883:0.0	.	1087;1962	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	H	1962	ENSP00000263094:R1962H;ENSP00000414062:R1962H	ENSP00000263094:R1962H	R	+	2	0	ABCA7	1014796	0.997000	0.39634	0.925000	0.36789	0.107000	0.19398	7.342000	0.79310	1.749000	0.51849	0.313000	0.20887	CGC	ABCA7	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1063796	1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1063796	G	A	1063796	3	1	90	1	0	0	0	0	1	0	0	0	37	1087	38	2	6055	2	ABCA7	19	1063796	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		1063796	58065187	56	13095										
TICAM1	148022	genome.wustl.edu	37	chr19	4816382	4816382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cagccctgggctctgaggggGtgcgggtgaggccgtaggga	21	9	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:4816382G>T	ENST00000248244.5	-	2	2237	c.2008C>A	c.(2008-2010)Ccc>Acc	p.P670T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	670	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTCTGAGGGGGTGCGGGTGAG	0.662																																																	0													58	53	54					19																	4816382		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.2008C>A	19.37:g.4816382G>T	ENSP00000248244:p.Pro670Thr		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.P670T	ENST00000248244.5	37	c.2008	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536533	0.13188	.	.	ENSG00000127666	ENST00000248244	T	0.39229	1.09	3.45	-6.9	0.01655	.	1.511690	0.05007	U	0.470289	T	0.19167	0.0460	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.16012	-1.0417	10	0.17832	T	0.49	-2.534	0.406	0.00433	0.3444:0.2177:0.1246:0.3134	.	670	Q8IUC6	TCAM1_HUMAN	T	670	ENSP00000248244:P670T	ENSP00000248244:P670T	P	-	1	0	TICAM1	4767382	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.398000	0.01051	-1.929000	0.01057	-0.258000	0.10820	CCC	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.662	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4816382	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4816382	G	T	4816382	3	4	90	1	0	0	0	0	1	0	0	0	15922	1261	44	4	134	4	TICAM1	19	4816382	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	3752586	4816382	54312601	57	13096										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8649802	8649802	+	Frame_Shift_Del	DEL	G	G	-													0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cagggccgtccccgggggttGggctgtcgcacttggcctca							TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:8649802delG	ENST00000597188.1	-	25	3449	c.3179delC	c.(3178-3180)ccafs	p.P1060fs	ADAMTS10_ENST00000270328.4_Frame_Shift_Del_p.P1060fs|ADAMTS10_ENST00000595838.1_Frame_Shift_Del_p.P547fs|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1060						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCCGGGGGTTGGGCTGTCGCA	0.711																																																	0													5	5	5					19																	8649802		1841	3435	5276	SO:0001589	frameshift_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3179delC	19.37:g.8649802delG	ENSP00000471851:p.Pro1060fs		M0QZE4	Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1060fs	ENST00000597188.1	37	c.3179	CCDS12206.1	19																																																																																			ADAMTS10	-	NULL		0.711	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	G	NM_030957		8649802	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	frame_shift_del	DEL	0.030	-	-	8649802	G	-	8649802	7	5	90	1	0	1	0	1	0	0	0	0	256	1348	47	0	140	0	ADAMTS10	19	8649802	Frame_Shift_Del	DEL	G	TCGA-EA-A5ZF-01A-11D-A28B-09	3833420	8649802	50479181	58	13097										
ZNF681	148213	genome.wustl.edu	37	chr19	23927271	23927271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tctgtagggcttctctccagTatgaattatcttatgtctgg	9	8	4	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:23927271T>C	ENST00000402377.3	-	4	1222	c.1081A>G	c.(1081-1083)Act>Gct	p.T361A	ZNF681_ENST00000395385.3_Missense_Mutation_p.T292A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTCTCCAGTATGAATTATC	0.403																																																	0													60	64	63					19																	23927271		2203	4298	6501	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1081A>G	19.37:g.23927271T>C	ENSP00000384000:p.Thr361Ala		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T361A	ENST00000402377.3	37	c.1081	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	12.43	1.936711	0.34189	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.26518	1.73;1.73	1.64	0.322	0.15888	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	L	0.41906	1.305	0.20873	N	0.999831	P	0.35684	0.515	B	0.32465	0.146	T	0.15838	-1.0423	9	0.62326	D	0.03	.	4.5253	0.11978	0.2882:0.0:0.0:0.7118	.	361	Q96N22	ZN681_HUMAN	A	361;292	ENSP00000384000:T361A;ENSP00000378783:T292A	ENSP00000378783:T292A	T	-	1	0	ZNF681	23719111	1.000000	0.71417	0.017000	0.16124	0.038000	0.13279	0.989000	0.29629	-0.164000	0.10927	0.383000	0.25322	ACT	ZNF681	-	pfscan_Znf_C2H2		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	T	NM_138286		23927271	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23927271	T	C	23927271	3	2	90	1	0	0	0	0	1	0	0	0	18118	1638	57	5	860	5	ZNF681	19	23927271	Missense_Mutation	SNP	T	TCGA-EA-A5ZF-01A-11D-A28B-09	15277469	23927271	35201712	59	13098										
ZNF536	9745	genome.wustl.edu	37	chr19	31039805	31039805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	actctgggagagcagaagagCggtgcatggaccggccacgt	16	10	1	3	rs147863190		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:31039805C>T	ENST00000355537.3	+	4	3426	c.3279C>T	c.(3277-3279)agC>agT	p.S1093S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1093					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S1093S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCAGAAGAGCGGTGCATGGA	0.537													C|||	1	0.000199681	0	0	5008	,	,		18334	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	75	85	81		3279	-4.1	0	19	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1093/1301	31039805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3279C>T	19.37:g.31039805C>T			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1093	ENST00000355537.3	37	c.3279	CCDS32984.1	19																																																																																			ZNF536	-	NULL		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		31039805	1	no_errors	ENST00000355537	ensembl	human	known	70_37	silent	SNP	0.000	T	T	31039805	C	T	31039805	2	4	90	1	0	0	0	0	0	0	0	1	18004	767	27	2		2	ZNF536	19	31039805	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	7112534	31039805	28089178	60	13099										
GAPDHS	26330	genome.wustl.edu	37	chr19	36034590	36034590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gctgacagggatggcgttccGggtaccaaccccggatgtgt	15	11	0	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:36034590G>A	ENST00000222286.4	+	9	1033	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	TMEM147_ENST00000392204.2_5'Flank|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	306					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.R306L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGCGTTCCGGGTACCAACC	0.612																																																	1	Substitution - Missense(1)	lung(1)											74	76	75					19																	36034590		2203	4300	6503	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.917G>A	19.37:g.36034590G>A	ENSP00000222286:p.Arg306Gln		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.R306Q	ENST00000222286.4	37	c.917	CCDS12465.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.425332	0.96131	.	.	ENSG00000105679	ENST00000222286	T	0.56776	0.44	5.39	5.39	0.77823	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89176	0.3540	10	0.87932	D	0	-16.9299	17.076	0.86586	0.0:0.0:1.0:0.0	.	306	O14556	G3PT_HUMAN	Q	306	ENSP00000222286:R306Q	ENSP00000222286:R306Q	R	+	2	0	GAPDHS	40726430	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	9.763000	0.98947	2.706000	0.92434	0.556000	0.70494	CGG	GAPDHS	-	pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1		0.612	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	G	NM_014364		36034590	1	no_errors	ENST00000222286	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36034590	G	A	36034590	3	1	90	1	0	0	0	0	1	0	0	0	6256	1116	39	2	951	2	GAPDHS	19	36034590	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	4994785	36034590	23094393	61	13100										
HRC	3270	genome.wustl.edu	37	chr19	49657432	49657432	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	acgttcagtggacacatcctCatcttcttcctcgtctctgt	6	14	5	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:49657432C>T	ENST00000252825.4	-	1	1249	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	HRC_ENST00000595625.1_Missense_Mutation_p.E355K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	355	4 X tandem repeats, acidic.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GACACATCCTCATCTTCTTCC	0.542																																					Melanoma(37;75 1097 24567 25669 30645)												0													231	172	192					19																	49657432		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1063G>A	19.37:g.49657432C>T	ENSP00000252825:p.Glu355Lys		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E355K	ENST00000252825.4	37	c.1063	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836538	0.50951	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.44482	0.92	3.39	3.39	0.38822	.	.	.	.	.	T	0.53802	0.1819	L	0.49778	1.585	0.38854	D	0.95634	D	0.69078	0.997	D	0.79108	0.992	T	0.53158	-0.8478	9	0.34782	T	0.22	-11.0114	10.6559	0.45675	0.0:1.0:0.0:0.0	.	355	P23327	SRCH_HUMAN	K	355;54;325	ENSP00000252825:E355K	ENSP00000252825:E355K	E	-	1	0	HRC	54349244	0.995000	0.38212	0.518000	0.27811	0.286000	0.27126	2.777000	0.47717	1.626000	0.50381	0.462000	0.41574	GAG	HRC	-	pfam_Hist_rich_Ca-bd		0.542	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657432	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.950	T	T	49657432	C	T	49657432	3	4	90	1	0	0	0	0	1	0	0	0	7372	835	29	1	1060	1	HRC	19	49657432	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	13622842	49657432	9471551	62	13101										
ZNF880	400713	genome.wustl.edu	37	chr19	52887528	52887528	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	aaaccttgtacaacatcaaaGaattcatactggagagaagc	7	8	2	2	rs528402600		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:52887528G>T	ENST00000422689.2	+	4	710	c.695G>T	c.(694-696)aGa>aTa	p.R232I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	232					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAACATCAAAGAATTCATACT	0.393																																																	0													37	35	36					19																	52887528		1568	3582	5150	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.695G>T	19.37:g.52887528G>T	ENSP00000406318:p.Arg232Ile		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R232I	ENST00000422689.2	37	c.695	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416414	0.25552	.	.	ENSG00000221923	ENST00000422689	T	0.24908	1.83	2.03	-0.626	0.11544	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26085	0.0636	M	0.79693	2.465	0.09310	N	1	P	0.51933	0.949	B	0.41619	0.361	T	0.18840	-1.0324	8	.	.	.	.	3.0788	0.06255	0.4254:0.2266:0.3481:0.0	.	232	Q6PDB4	ZN880_HUMAN	I	232	ENSP00000406318:R232I	.	R	+	2	0	ZNF880	57579340	0.000000	0.05858	0.002000	0.10522	0.122000	0.20287	-0.081000	0.11321	-0.226000	0.09899	0.551000	0.68910	AGA	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	G	NM_001145434		52887528	1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.002	T	T	52887528	G	T	52887528	3	4	90	1	0	0	0	0	1	0	0	0	18227	942	33	3	709	3	ZNF880	19	52887528	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	3230096	52887528	6241455	63	13102										
SALL4	57167	genome.wustl.edu	37	chr20	50407220	50407220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tacctttggtagaaaaggctCggccacagatcttacactgg	10	10	1	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr20:50407220C>T	ENST00000217086.4	-	2	1913	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	601					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAAGGCTCGGCCACAGAT	0.522																																																	0													72	66	68					20																	50407220		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1802G>A	20.37:g.50407220C>T	ENSP00000217086:p.Arg601Gln		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R601Q	ENST00000217086.4	37	c.1802	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962129	0.92791	.	.	ENSG00000101115	ENST00000217086	T	0.18960	2.18	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.188633	0.26362	N	0.024809	T	0.32194	0.0821	N	0.11845	0.185	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.34354	-0.9832	10	0.87932	D	0	-1.8198	19.8057	0.96531	0.0:1.0:0.0:0.0	.	601	Q9UJQ4	SALL4_HUMAN	Q	601	ENSP00000217086:R601Q	ENSP00000217086:R601Q	R	-	2	0	SALL4	49840627	1.000000	0.71417	0.578000	0.28575	0.886000	0.51366	6.087000	0.71362	2.677000	0.91161	0.650000	0.86243	CGA	SALL4	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	C			50407220	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	missense	SNP	0.984	T	T	50407220	C	T	50407220	3	4	90	1	0	0	0	0	1	0	0	0	13843	884	31	1	1371	1	SALL4	20	50407220	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		50407220	12618300	64	13103										
CBR1	873	genome.wustl.edu	37	chr21	37443336	37443336	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gatgtgtgcacagaattactCcctctaataaaaccccaagg	7	11	1	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr21:37443336C>G	ENST00000290349.6	+	2	553	c.378C>G	c.(376-378)ctC>ctG	p.L126L	CBR1_ENST00000439427.2_Silent_p.L126L|CBR1_ENST00000399191.3_Silent_p.L126L|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_Silent_p.L126L|CBR1_ENST00000466328.2_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	126					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CAGAATTACTCCCTCTAATAA	0.478																																																	0													98	89	92					21																	37443336		2203	4300	6503	SO:0001819	synonymous_variant	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.378C>G	21.37:g.37443336C>G			B2RBZ7|B4DFK7|Q3LHW8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L126	ENST00000290349.6	37	c.378	CCDS13641.1	21																																																																																			CBR1	-	pfam_DH_sc/Rdtase_SDR		0.478	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR1	HGNC	protein_coding	OTTHUMT00000194633.2	C			37443336	1	no_errors	ENST00000290349	ensembl	human	known	70_37	silent	SNP	0.994	G	G	37443336	C	G	37443336	2	3	90	1	0	0	0	0	0	0	0	1	2713	842	30	1		1	CBR1	21	37443336	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		37443336	10686559	65	13104										
SLC7A4	6545	genome.wustl.edu	37	chr22	21385831	21385831	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tggcacacgtgccccaaattCtgcatagcatagggctgcca	10	13	1	0	rs9613553		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr22:21385831C>T	ENST00000382932.2	-	2	338	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SLC7A4_ENST00000403586.1_Missense_Mutation_p.E91K|AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	91					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCCAAATTCTGCATAGCAT	0.627																																																	0													62	47	52					22																	21385831		2203	4300	6503	SO:0001583	missense	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.271G>A	22.37:g.21385831C>T	ENSP00000372390:p.Glu91Lys		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.E91K	ENST00000382932.2	37	c.271	CCDS33608.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.473802	0.96291	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.95001	-3.58;-3.58	5.39	5.39	0.77823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99433	1.0936	10	0.87932	D	0	.	17.0217	0.86435	0.0:1.0:0.0:0.0	rs9613553	91	O43246	CTR4_HUMAN	K	91	ENSP00000384278:E91K;ENSP00000372390:E91K	ENSP00000372390:E91K	E	-	1	0	SLC7A4	19715831	1.000000	0.71417	0.950000	0.38849	0.881000	0.50899	7.386000	0.79775	2.684000	0.91462	0.561000	0.74099	GAA	SLC7A4	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.627	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	C	NM_004173		21385831	-1	no_errors	ENST00000382932	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21385831	C	T	21385831	3	4	90	1	0	0	0	0	1	0	0	0	14729	922	32	1	1652	1	SLC7A4	22	21385831	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09		21385831	29918735	66	13105										
CPT1B	1375	genome.wustl.edu	37	chr22	51016307	51016307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cgaccccgtctggggtcaccGtgaactggaaggccacggcc	14	15	2	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr22:51016307G>A	ENST00000360719.2	-	2	175	c.38C>T	c.(37-39)aCg>aTg	p.T13M	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.T13M|CPT1B_ENST00000440709.1_Missense_Mutation_p.T13M|CPT1B_ENST00000312108.7_Missense_Mutation_p.T13M|CPT1B_ENST00000405237.3_Missense_Mutation_p.T13M|CPT1B_ENST00000434492.2_De_novo_Start_OutOfFrame|CPT1B_ENST00000395650.2_Missense_Mutation_p.T13M|CHKB-CPT1B_ENST00000452668.1_5'UTR|CHKB_ENST00000463053.1_5'Flank	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	13					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGGGTCACCGTGAACTGGAA	0.662																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													59	54	56					22																	51016307		2203	4300	6503	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.38C>T	22.37:g.51016307G>A	ENSP00000353945:p.Thr13Met		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.T13M	ENST00000360719.2	37	c.38	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761634	0.89932	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;T	0.85702	-1.96;-1.96;-1.96;-1.94;-2.02;-1.96;-0.27	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.92407	0.7590	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.927;0.993	D	0.93412	0.6769	10	0.87932	D	0	-19.6636	16.013	0.80417	0.0:0.0:1.0:0.0	.	13;13;13	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	M	13	ENSP00000385486:T13M;ENSP00000312189:T13M;ENSP00000353945:T13M;ENSP00000409342:T13M;ENSP00000414713:T13M;ENSP00000379011:T13M;ENSP00000406316:T13M	ENSP00000312189:T13M	T	-	2	0	CPT1B	49363173	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.163000	0.94750	2.378000	0.81104	0.561000	0.74099	ACG	CPT1B	-	NULL		0.662	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	G	NM_152246		51016307	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51016307	G	A	51016307	3	1	90	1	0	0	0	0	1	0	0	0	3837	1145	40	2	2352	2	CPT1B	22	51016307	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	29630476	51016307	288259	67	13106										
PPP2R3B	28227	genome.wustl.edu	37	chrX	301537	301537	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	accaggtccagcatctggcaGaggcagtcctggaagggcag	15	11	1	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:301537G>A	ENST00000390665.3	-	10	1332	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	438					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCTGGCAGAGGCAGTCCT	0.662																																																	0													120	84	96					X																	301537		2191	4285	6476	SO:0001819	synonymous_variant	28227			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1314C>T	X.37:g.301537G>A			Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	pfscan_EF_HAND_2	p.L438	ENST00000390665.3	37	c.1314	CCDS14104.1	X																																																																																			PPP2R3B	-	NULL		0.662	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	G	NM_013239		301537	-1	no_errors	ENST00000390665	ensembl	human	known	70_37	silent	SNP	0.995	A	A	301537	G	A	301537	2	1	90	1	0	0	0	0	0	0	0	1	12416	929	33	1		1	PPP2R3B	23	301537	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09		301537	154969023	68	13107										
PHKA2	5256	genome.wustl.edu	37	chrX	19002029	19002029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gtacccgtccaagcggacccCggaattgctcctgctccgca	10	17	0	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:19002029C>T	ENST00000379942.4	-	1	687	c.22G>A	c.(22-24)Ggg>Agg	p.G8R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	8					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGCGGACCCCGGAATTGCTC	0.697																																																	0													70	58	63					X																	19002029		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.22G>A	X.37:g.19002029C>T	ENSP00000369274:p.Gly8Arg		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.G8R	ENST00000379942.4	37	c.22	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.144077	0.94603	.	.	ENSG00000044446	ENST00000379942	D	0.90444	-2.67	4.82	4.82	0.62117	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.092042	0.85682	D	0.000000	D	0.94843	0.8334	M	0.88105	2.93	0.80722	D	1	D	0.56035	0.974	P	0.57679	0.825	D	0.95558	0.8627	10	0.72032	D	0.01	-11.2777	14.3777	0.66889	0.0:1.0:0.0:0.0	.	8	P46019	KPB2_HUMAN	R	8	ENSP00000369274:G8R	ENSP00000369274:G8R	G	-	1	0	PHKA2	18911950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.716000	0.61916	2.387000	0.81309	0.544000	0.68410	GGG	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.697	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		19002029	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19002029	C	T	19002029	3	4	90	1	0	0	0	0	1	0	0	0	11868	652	23	2	3817	2	PHKA2	23	19002029	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	18700492	19002029	136268531	69	13108										
DMD	1756	genome.wustl.edu	37	chrX	31525526	31525526	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttttggctgttttcatccagGttgtgataaacatctgtgtg	10	6	2	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:31525526G>C	ENST00000357033.4	-	56	8468	c.8262C>G	c.(8260-8262)aaC>aaG	p.N2754K	DMD_ENST00000343523.2_Missense_Mutation_p.N294K|DMD_ENST00000378677.2_Missense_Mutation_p.N2750K|DMD_ENST00000359836.1_Missense_Mutation_p.N294K|DMD_ENST00000474231.1_Missense_Mutation_p.N294K|DMD_ENST00000541735.1_Missense_Mutation_p.N294K|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.N294K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2754					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCATCCAGGTTGTGATAAA	0.423																																																	0													141	115	124					X																	31525526		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8262C>G	X.37:g.31525526G>C	ENSP00000354923:p.Asn2754Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.N2754K	ENST00000357033.4	37	c.8262	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.48|12.48	1.951437|1.951437	0.34471|0.34471	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82|.	5.68|5.68	4.81|4.81	0.61882|0.61882	.|.	0.000000|.	0.39985|.	U|.	0.001213|.	T|T	0.55593|0.55593	0.1930|0.1930	L|L	0.36672|0.36672	1.1|1.1	0.38192|0.38192	D|D	0.939937|0.939937	B;P;B;P;P;B;B;B;P;P;P|.	0.38280|.	0.234;0.625;0.071;0.625;0.625;0.035;0.152;0.152;0.625;0.571;0.486|.	P;B;B;B;B;B;B;B;B;B;B|.	0.44772|.	0.46;0.192;0.038;0.192;0.192;0.039;0.232;0.155;0.192;0.121;0.205|.	T|T	0.55872|0.55872	-0.8072|-0.8072	10|5	0.52906|.	T|.	0.07|.	.|.	13.1683|13.1683	0.59583|0.59583	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	2746;2754;2750;1413;1410;294;294;294;294;294;2631|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	K|A	2746;1413;1410;450;2750;2754;294;294;2754;2631;294;294;294|483	ENSP00000350765:N450K;ENSP00000367948:N2750K;ENSP00000354923:N2754K;ENSP00000352894:N294K;ENSP00000340057:N294K;ENSP00000367979:N294K;ENSP00000444119:N294K;ENSP00000417123:N294K|.	ENSP00000340057:N294K|.	N|P	-|-	3|1	2|0	DMD|DMD	31435447|31435447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.399000|2.399000	0.44495|0.44495	1.130000|1.130000	0.42092|0.42092	0.594000|0.594000	0.82650|0.82650	AAC|CCT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		31525526	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31525526	G	C	31525526	3	2	90	1	0	0	0	0	1	0	0	0	4590	1252	44	4	3005	4	DMD	23	31525526	Missense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	12523497	31525526	123745034	70	13109										
FOXP3	50943	genome.wustl.edu	37	chrX	49113249	49113249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	tcgaagaccttctcacatccGggccacttgcagacaccatt	7	15	1	2	rs370196156		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:49113249G>A	ENST00000376207.4	-	6	793	c.606C>T	c.(604-606)ccC>ccT	p.P202P	FOXP3_ENST00000518685.1_Silent_p.P167P|FOXP3_ENST00000455775.2_Silent_p.P202P|FOXP3_ENST00000557224.1_Silent_p.P167P|FOXP3_ENST00000376197.1_Silent_p.P152P|FOXP3_ENST00000376199.2_Silent_p.P167P	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	202					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TCTCACATCCGGGCCACTTGC	0.627																																					GBM(182;1432 2112 16160 23073 31774)												0													69	59	63					X																	49113249		2203	4300	6503	SO:0001819	synonymous_variant	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.606C>T	X.37:g.49113249G>A			A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P202	ENST00000376207.4	37	c.606	CCDS14323.1	X																																																																																			FOXP3	-	NULL		0.627	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	HGNC	protein_coding	OTTHUMT00000060814.1	G	NM_014009		49113249	-1	no_errors	ENST00000376207	ensembl	human	known	70_37	silent	SNP	0.367	A	A	49113249	G	A	49113249	2	1	90	1	0	0	0	0	0	0	0	1	6046	1103	39	2		2	FOXP3	23	49113249	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	17587723	49113249	106157311	71	13110										
ZBTB33	10009	genome.wustl.edu	37	chrX	119388668	119388668	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gagaatgaaataccaaaaacGtctggcagcgagatggcaaa	11	7	1	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:119388668G>T	ENST00000326624.2	+	2	1626	c.1398G>T	c.(1396-1398)acG>acT	p.T466T	ZBTB33_ENST00000557385.1_Silent_p.T466T	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	466	Interaction with CTNND1. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAAAAACGTCTGGCAGCG	0.378																																																	0													72	71	72					X																	119388668		2203	4300	6503	SO:0001819	synonymous_variant	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1398G>T	X.37:g.119388668G>T			B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T466	ENST00000326624.2	37	c.1398	CCDS14596.1	X																																																																																			ZBTB33	-	NULL		0.378	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	G	NM_006777		119388668	1	no_errors	ENST00000326624	ensembl	human	known	70_37	silent	SNP	0.008	T	T	119388668	G	T	119388668	2	4	90	1	0	0	0	0	0	0	0	1	17566	1132	40	2		2	ZBTB33	23	119388668	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	70275419	119388668	35881892	72	13111										
CUL4B	8450	genome.wustl.edu	37	chrX	119674274	119674274	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttgttaatgaacgtttcaaaTgcttctttcatggcattgat	7	6	3	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:119674274T>G	ENST00000404115.3	-	13	2042	c.1641A>C	c.(1639-1641)gcA>gcC	p.A547A	CUL4B_ENST00000336592.6_Silent_p.A534A|CUL4B_ENST00000371322.5_Silent_p.A529A	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	547					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACGTTTCAAATGCTTCTTTCA	0.323																																																	0													143	129	134					X																	119674274		2202	4297	6499	SO:0001819	synonymous_variant	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1641A>C	X.37:g.119674274T>G			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.A547	ENST00000404115.3	37	c.1641	CCDS35379.1	X																																																																																			CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.323	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	T	NM_003588		119674274	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	silent	SNP	0.920	G	G	119674274	T	G	119674274	2	3	90	1	0	0	0	0	0	0	0	1	4063	1451	51	5		5	CUL4B	23	119674274	Silent	SNP	T	TCGA-EA-A5ZF-01A-11D-A28B-09	285606	119674274	35596286	73	13112										
OR13H1	347468	genome.wustl.edu	37	chrX	130678497	130678497	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttggttgctacctcatggggGacatcacttgtgctcactgc	11	11	3	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:130678497G>A	ENST00000338616.3	+	1	548	c.450G>A	c.(448-450)ggG>ggA	p.G150G		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCTCATGGGGGACATCACTTG	0.507																																																	0													262	215	231					X																	130678497		2203	4300	6503	SO:0001819	synonymous_variant	347468				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.450G>A	X.37:g.130678497G>A			B2RNQ3|Q6IET8|Q96R12	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G150	ENST00000338616.3	37	c.450	CCDS35396.1	X																																																																																			OR13H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	HGNC	protein_coding	OTTHUMT00000058297.1	G			130678497	1	no_errors	ENST00000338616	ensembl	human	known	70_37	silent	SNP	0.006	A	A	130678497	G	A	130678497	2	1	90	1	0	0	0	0	0	0	0	1	10967	1161	41	1		1	OR13H1	23	130678497	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	11004223	130678497	24592063	74	13113										
CXorf66	347487	genome.wustl.edu	37	chrX	139038831	139038831	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	ttgtgtttctggactgcattGagaggctgtcttggcttcac	12	8	3	1			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:139038831G>A	ENST00000370540.1	-	3	333	c.310C>T	c.(310-312)Caa>Taa	p.Q104*		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	104	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGACTGCATTGAGAGGCTGTC	0.413																																																	0													183	155	165					X																	139038831		2203	4300	6503	SO:0001587	stop_gained	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.310C>T	X.37:g.139038831G>A	ENSP00000359571:p.Gln104*			Nonsense_Mutation	SNP	NULL	p.Q104*	ENST00000370540.1	37	c.310	CCDS35411.1	X	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544350	0.27563	.	.	ENSG00000203933	ENST00000370540	.	.	.	4.21	-2.58	0.06228	.	2.917630	0.01786	N	0.032031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9576	2.757	0.05295	0.1501:0.4768:0.2176:0.1556	.	.	.	.	X	104	.	.	Q	-	1	0	CXorf66	138866497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.036000	0.12185	-0.701000	0.05063	0.550000	0.68814	CAA	CXorf66	-	NULL		0.413	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	HGNC	protein_coding	OTTHUMT00000058572.1	G	NM_001013403		139038831	-1	no_errors	ENST00000370540	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	139038831	G	A	139038831	4	1	90	1	0	0	0	0	0	1	0	0	4123	1299	45	1	779	1	CXorf66	23	139038831	Nonsense_Mutation	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	8360334	139038831	16231729	75	13114										
SLITRK2	84631	genome.wustl.edu	37	chrX	144905446	144905446	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	gccctaaccaggctgaatctGagaaacaaccatttttctca	6	12	2	2			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:144905446G>A	ENST00000370490.1	+	1	5758	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	SLITRK2_ENST00000447897.2_Silent_p.L501L|SLITRK2_ENST00000434188.2_Silent_p.L501L|SLITRK2_ENST00000428560.2_Silent_p.L501L|SLITRK2_ENST00000413937.2_Silent_p.L501L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	501					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGAATCTGAGAAACAACC	0.483																																																	0													92	97	95					X																	144905446		2203	4300	6503	SO:0001819	synonymous_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1503G>A	X.37:g.144905446G>A			A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L501	ENST00000370490.1	37	c.1503	CCDS14680.1	X																																																																																			SLITRK2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	G	NM_032539		144905446	1	no_errors	ENST00000370490	ensembl	human	known	70_37	silent	SNP	1.000	A	A	144905446	G	A	144905446	2	1	90	1	0	0	0	0	0	0	0	1	14773	1277	45	1		1	SLITRK2	23	144905446	Silent	SNP	G	TCGA-EA-A5ZF-01A-11D-A28B-09	5866615	144905446	10365114	76	13115										
PNMA5	114824	genome.wustl.edu	37	chrX	152159505	152159505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	cattgttggcctggagcaccCgcatgattgacagagcaggc	13	11	0	3			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:152159505C>T	ENST00000439251.1	-	2	1076	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	PNMA5_ENST00000452693.1_Missense_Mutation_p.R213Q|PNMA5_ENST00000361887.5_Missense_Mutation_p.R213Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.R213Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	213					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGCACCCGCATGATTGA	0.527																																																	0													76	71	73					X																	152159505		2203	4300	6503	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.638G>A	X.37:g.152159505C>T	ENSP00000388850:p.Arg213Gln		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.R213Q	ENST00000439251.1	37	c.638	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640467	0.29157	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	3.31	1.38	0.22167	.	.	.	.	.	T	0.06142	0.0159	L	0.42744	1.35	0.09310	N	1	P	0.36048	0.534	B	0.21708	0.036	T	0.36553	-0.9743	9	0.16420	T	0.52	.	3.6028	0.08031	0.0:0.5824:0.2588:0.1588	.	213	Q96PV4	PNMA5_HUMAN	Q	213	ENSP00000354834:R213Q;ENSP00000445775:R213Q;ENSP00000388850:R213Q;ENSP00000392342:R213Q	ENSP00000354834:R213Q	R	-	2	0	PNMA5	151910161	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	0.218000	0.17622	0.242000	0.21303	0.468000	0.43344	CGG	PNMA5	-	NULL		0.527	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	HGNC	protein_coding	OTTHUMT00000060925.1	C	NM_052926		152159505	-1	no_errors	ENST00000361887	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152159505	C	T	152159505	3	4	90	1	0	0	0	0	1	0	0	0	12180	652	23	2	712	2	PNMA5	23	152159505	Missense_Mutation	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	7254059	152159505	3111055	77	13116										
SLC6A8	6535	genome.wustl.edu	37	chrX	152954233	152954233	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.205128205128205	16	0.00249352107107708	2.24964515321032	4.52485445588894	1.72824302134647	0.314529831858264	0.563792808707049	9	atcatgtcgtgcgtgggcttCgccgtgggcttgggcaacgt	16	10	1	0			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:152954233C>T	ENST00000253122.5	+	1	680	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	68					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F68F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCGTGGGCTTCGCCGTGGGCT	0.731																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											31	25	27					X																	152954233		2201	4297	6498	SO:0001819	synonymous_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.204C>T	X.37:g.152954233C>T			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.F68	ENST00000253122.5	37	c.204	CCDS14726.1	X																																																																																			SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.731	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	C			152954233	1	no_errors	ENST00000253122	ensembl	human	known	70_37	silent	SNP	0.998	T	T	152954233	C	T	152954233	2	4	90	1	0	0	0	0	0	0	0	1	14720	883	31	1		1	SLC6A8	23	152954233	Silent	SNP	C	TCGA-EA-A5ZF-01A-11D-A28B-09	794728	152954233	2316327	78	13117										
NOL9	79707	genome.wustl.edu	37	chr1	6586866	6586866	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gatgtggtacagccgcttctCcatgtcaatgcctctacaga	9	12	3	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:6586866C>G	ENST00000377705.5	-	11	1881	c.1849G>C	c.(1849-1851)Gag>Cag	p.E617Q		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	617					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCGCTTCTCCATGTCAATG	0.488																																																	0													125	113	117					1																	6586866		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1849G>C	1.37:g.6586866C>G	ENSP00000366934:p.Glu617Gln		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.E617Q	ENST00000377705.5	37	c.1849	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967774	0.74131	.	.	ENSG00000162408	ENST00000377705	T	0.47528	0.84	5.1	5.1	0.69264	Pre-mRNA cleavage complex II Clp1 (1);	0.227120	0.36972	N	0.002320	T	0.58481	0.2125	L	0.46157	1.445	0.43798	D	0.996348	D	0.64830	0.994	D	0.63703	0.917	T	0.55736	-0.8094	10	0.38643	T	0.18	-23.6939	14.0243	0.64575	0.0:1.0:0.0:0.0	.	617	Q5SY16	NOL9_HUMAN	Q	617	ENSP00000366934:E617Q	ENSP00000366934:E617Q	E	-	1	0	NOL9	6509453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.902000	0.69869	2.381000	0.81170	0.462000	0.41574	GAG	NOL9	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1		0.488	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	C	NM_024654		6586866	-1	no_errors	ENST00000377705	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6586866	C	G	6586866	3	3	91	1	0	0	0	0	1	0	0	0	10552	864	30	1	267	1	NOL9	1	6586866	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		6586866	242663755	1	13118										
FAM46B	115572	genome.wustl.edu	37	chr1	27332618	27332618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agtgcggcaatgaggtccagCgtctggcggcgctcgtggtt	17	10	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:27332618C>T	ENST00000289166.5	-	2	1260	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	365										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGTCCAGCGTCTGGCGGC	0.697																																																	0													27	24	25					1																	27332618		2201	4298	6499	SO:0001819	synonymous_variant	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.1095G>A	1.37:g.27332618C>T				Silent	SNP	pfam_DUF1693	p.T365	ENST00000289166.5	37	c.1095	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693		0.697	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	C	NM_052943		27332618	-1	no_errors	ENST00000289166	ensembl	human	known	70_37	silent	SNP	0.006	T	T	27332618	C	T	27332618	2	4	91	1	0	0	0	0	0	0	0	1	5584	755	27	2		2	FAM46B	1	27332618	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	20745752	27332618	221918003	2	13119										
MACF1	23499	genome.wustl.edu	37	chr1	39844931	39844931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	acttgaagtatgagaaactaGggggagtacttcatgaacgc	12	6	1	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:39844931G>T	ENST00000372915.3	+	53	13435	c.13348G>T	c.(13348-13350)Ggg>Tgg	p.G4450W	MACF1_ENST00000289893.4_Missense_Mutation_p.G2885W|MACF1_ENST00000361689.2_Missense_Mutation_p.G2383W|MACF1_ENST00000545844.1_Missense_Mutation_p.G2383W|MACF1_ENST00000539005.1_Missense_Mutation_p.G2362W|MACF1_ENST00000567887.1_Missense_Mutation_p.G4482W|MACF1_ENST00000317713.7_Missense_Mutation_p.G2383W|MACF1_ENST00000564288.1_Missense_Mutation_p.G4445W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4450					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGAAACTAGGGGGAGTACT	0.463																																																	0													184	186	185					1																	39844931		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13348G>T	1.37:g.39844931G>T	ENSP00000362006:p.Gly4450Trp		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.G2383W	ENST00000372915.3	37	c.7147		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.393937|2.393937	0.42410|0.42410	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35|.	6.04|6.04	5.12|5.12	0.69794|0.69794	.|.	0.189581|.	0.37012|.	N|.	0.002299|.	T|T	0.60676|0.60676	0.2287|0.2287	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;B;B|.	0.41450|.	0.75;0.11;0.24|.	P;B;P|.	0.47827|.	0.558;0.045;0.476|.	T|T	0.57406|0.57406	-0.7817|-0.7817	10|5	0.35671|.	T|.	0.21|.	.|.	17.0225|17.0225	0.86437|0.86437	0.0:0.0:0.872:0.128|0.0:0.0:0.872:0.128	.|.	4450;2383;2327|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	W|M	2383;4450;2383;2383;2362;2885|1495	ENSP00000439537:G2383W;ENSP00000362006:G4450W;ENSP00000354573:G2383W;ENSP00000313438:G2383W;ENSP00000444364:G2362W;ENSP00000289893:G2885W|.	ENSP00000289893:G2885W|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39617518|39617518	1.000000|1.000000	0.71417|0.71417	0.169000|0.169000	0.22859|0.22859	0.710000|0.710000	0.40934|0.40934	7.398000|7.398000	0.79919|0.79919	1.548000|1.548000	0.49413|0.49413	0.650000|0.650000	0.86243|0.86243	GGG|AGG	MACF1	-	smart_Spectrin/alpha-actinin		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39844931	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39844931	G	T	39844931	3	4	91	1	0	0	0	0	1	0	0	0	9167	1000	35	4	13492	4	MACF1	1	39844931	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	12512313	39844931	209405690	3	13120										
MED8	112950	genome.wustl.edu	37	chr1	43853286	43853286	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tcagagtgttcagctgtccaGaaagcaaggcaaagctgtcc	11	10	2	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:43853286G>A	ENST00000372457.4	-	3	201	c.158C>T	c.(157-159)tCt>tTt	p.S53F	SZT2_ENST00000372450.4_5'Flank|MED8_ENST00000372455.4_5'UTR|SZT2_ENST00000310739.4_5'Flank|SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.S53F|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	53					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGTCCAGAAAGCAAGGC	0.483																																																	0													151	152	151					1																	43853286		2203	4300	6503	SO:0001583	missense	112950			AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.158C>T	1.37:g.43853286G>A	ENSP00000361535:p.Ser53Phe		A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	pfam_Mediatior_Med8_fun/met	p.S53F	ENST00000372457.4	37	c.158	CCDS487.2	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904032	0.92035	.	.	ENSG00000159479	ENST00000290663;ENST00000372457	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.85583	0.1241	9	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	53;53	Q96G25;Q96G25-2	MED8_HUMAN;.	F	53	.	ENSP00000290663:S53F	S	-	2	0	MED8	43625873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	TCT	MED8	-	pfam_Mediatior_Med8_fun/met		0.483	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED8	HGNC	protein_coding	OTTHUMT00000318959.1	G	NM_052877		43853286	-1	no_errors	ENST00000290663	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43853286	G	A	43853286	3	1	91	1	0	0	0	0	1	0	0	0	9476	942	33	1	775	1	MED8	1	43853286	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	4008355	43853286	205397335	4	13121										
GBP5	115362	genome.wustl.edu	37	chr1	89735176	89735176	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aaagcttcctgattaaccttCagctgctcattaaagttctc	5	11	3	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:89735176C>T	ENST00000370459.3	-	2	190	c.63G>A	c.(61-63)ctG>ctA	p.L21L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.L21L			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	21	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GATTAACCTTCAGCTGCTCAT	0.488																																																	0													254	235	241					1																	89735176		2203	4300	6503	SO:0001819	synonymous_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.63G>A	1.37:g.89735176C>T			B2RCE1|Q86TM5	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L21	ENST00000370459.3	37	c.63	CCDS722.1	1																																																																																			GBP5	-	pfam_Guanylate-bd_N		0.488	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	C	NM_052942		89735176	-1	no_errors	ENST00000343435	ensembl	human	known	70_37	silent	SNP	0.000	T	T	89735176	C	T	89735176	2	4	91	1	0	0	0	0	0	0	0	1	6296	813	29	1		1	GBP5	1	89735176	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	45881890	89735176	159515445	5	13122										
TCHH	7062	genome.wustl.edu	37	chr1	152080039	152080039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cctccttctgctggcggcggAtgtgttcttcccgtaatttc	10	13	2	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:152080039A>G	ENST00000368804.1	-	2	5653	c.5654T>C	c.(5653-5655)aTc>aCc	p.I1885T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1885	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCGGCGGATGTGTTCTTC	0.572																																																	0													166	168	167					1																	152080039		2049	4184	6233	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5654T>C	1.37:g.152080039A>G	ENSP00000357794:p.Ile1885Thr		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.I1885T	ENST00000368804.1	37	c.5654	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	a	0.180	-1.063221	0.01950	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	3.17	3.17	0.36434	.	.	.	.	.	T	0.01254	0.0041	N	0.19112	0.55	0.09310	N	1	B	0.28470	0.213	B	0.21151	0.033	T	0.46062	-0.9218	9	0.18710	T	0.47	0.1316	9.4137	0.38507	1.0:0.0:0.0:0.0	.	1885	Q07283	TRHY_HUMAN	T	1885	ENSP00000357794:I1885T	ENSP00000357794:I1885T	I	-	2	0	TCHH	150346663	0.294000	0.24380	0.633000	0.29310	0.024000	0.10985	0.113000	0.15499	1.315000	0.45114	0.255000	0.18592	ATC	TCHH	-	NULL		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	A	NM_007113		152080039	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.198	G	G	152080039	A	G	152080039	3	3	91	1	0	0	0	0	1	0	0	0	15730	333	12	5	181	5	TCHH	1	152080039	Missense_Mutation	SNP	A	TCGA-EA-A6QX-01A-12D-A33O-09	62344863	152080039	97170582	6	13123										
MIXL1	83881	genome.wustl.edu	37	chr1	226413277	226413277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ccttccaacctttggctaggCcggagattatcctcaaccac	7	15	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:226413277C>T	ENST00000366810.5	+	2	527	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.P163S			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	155					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		TTTGGCTAGGCCGGAGATTAT	0.517																																					Pancreas(72;1302 1881 20981 22800)												0													93	89	91					1																	226413277		2203	4300	6503	SO:0001583	missense	83881			AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"Homeoboxes / PRD class"	13363	protein-coding gene	gene with protein product		609852	"Mix1 homeobox (Xenopus laevis)-like 1", "Mix1 homeobox-like 1 (Xenopus laevis)"			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.463C>T	1.37:g.226413277C>T	ENSP00000355775:p.Pro155Ser		B7ZLF9	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P155S	ENST00000366810.5	37	c.463	CCDS1552.1	1	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969398	0.18659	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.13538	2.58;2.58	5.5	3.58	0.41010	Homeodomain-like (1);	0.304019	0.23558	N	0.046892	T	0.08802	0.0218	L	0.29908	0.895	0.09310	N	1	P	0.34462	0.454	B	0.29598	0.104	T	0.26052	-1.0114	10	0.30078	T	0.28	-0.0873	8.9166	0.35585	0.1697:0.6669:0.1634:0.0	.	155	Q9H2W2	MIXL1_HUMAN	S	163;155	ENSP00000442439:P163S;ENSP00000355775:P155S	ENSP00000355775:P155S	P	+	1	0	MIXL1	224479900	0.008000	0.16893	0.007000	0.13788	0.061000	0.15899	0.758000	0.26447	0.642000	0.30620	0.655000	0.94253	CCG	MIXL1	-	superfamily_Homeodomain-like		0.517	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIXL1	HGNC	protein_coding	OTTHUMT00000091526.3	C			226413277	1	no_errors	ENST00000366810	ensembl	human	known	70_37	missense	SNP	0.010	T	T	226413277	C	T	226413277	3	4	91	1	0	0	0	0	1	0	0	0	9620	739	26	4	469	4	MIXL1	1	226413277	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	74333238	226413277	22837344	7	13124										
MYCN	4613	genome.wustl.edu	37	chr2	16086128	16086128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gtatgtccactccctccaggCcgaggagcaccagcttttgc	10	15	0	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:16086128C>T	ENST00000281043.3	+	3	1601	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	435	Leucine-zipper.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TCCCTCCAGGCCGAGGAGCAC	0.517			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0													113	127	122					2																	16086128		2203	4300	6503	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1304C>T	2.37:g.16086128C>T	ENSP00000281043:p.Ala435Val		Q53XS5|Q6LDT9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc	p.A435V	ENST00000281043.3	37	c.1304	CCDS1687.1	2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756443	0.49362	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.88509	-2.39	5.08	4.17	0.49024	Helix-loop-helix DNA-binding (3);	0.169851	0.52532	D	0.000073	D	0.86146	0.5863	L	0.58810	1.83	0.46458	D	0.999055	B	0.33549	0.417	B	0.30105	0.111	D	0.84469	0.0598	10	0.39692	T	0.17	-25.5836	15.5913	0.76530	0.0:0.8617:0.1383:0.0	.	435	P04198	MYCN_HUMAN	V	435;353	ENSP00000281043:A435V	ENSP00000281043:A435V	A	+	2	0	MYCN	16003579	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	3.931000	0.56529	1.235000	0.43724	0.609000	0.83330	GCC	MYCN	-	superfamily_HLH_dom,smart_HLH_dom		0.517	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2	C	NM_005378		16086128	1	no_errors	ENST00000281043	ensembl	human	known	70_37	missense	SNP	0.995	T	T	16086128	C	T	16086128	3	4	91	1	0	0	0	0	1	0	0	0	10044	739	26	4	1310	4	MYCN	2	16086128	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		16086128	227113245	8	13125										
GPR113	165082	genome.wustl.edu	37	chr2	26534373	26534373	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aggcactgagcagtggggctGgcactggccacctgtgcctg	16	12	0	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:26534373G>T	ENST00000311519.1	-	11	2222	c.2223C>A	c.(2221-2223)gcC>gcA	p.A741A	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.A344A|GPR113_ENST00000421160.2_Silent_p.A672A|GPR113_ENST00000333478.6_Silent_p.A542A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	741	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGGGGCTGGCACTGGCCA	0.617																																																	0													83	93	90					2																	26534373		2203	4300	6503	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2223C>A	2.37:g.26534373G>T			B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A542	ENST00000311519.1	37	c.1626	CCDS46239.1	2																																																																																			GPR113	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.617	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26534373	-1	no_errors	ENST00000333478	ensembl	human	known	70_37	silent	SNP	0.000	T	T	26534373	G	T	26534373	2	4	91	1	0	0	0	0	0	0	0	1	6649	1335	47	4		4	GPR113	2	26534373	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	10448245	26534373	216665000	9	13126										
HAAO	23498	genome.wustl.edu	37	chr2	42997641	42997641	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ctgggggctcactcctggatGatgggggccaactgcgtgcc	16	12	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:42997641G>C	ENST00000294973.6	-	5	487	c.432C>G	c.(430-432)atC>atG	p.I144M		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACTCCTGGATGATGGGGGCCA	0.612																																																	0													41	32	35					2																	42997641		2171	4235	6406	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.432C>G	2.37:g.42997641G>C	ENSP00000294973:p.Ile144Met			Missense_Mutation	SNP	pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase	p.I144M	ENST00000294973.6	37	c.432	CCDS33187.1	2	.	.	.	.	.	.	.	.	.	.	g	17.90	3.503219	0.64298	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.34275	1.37;1.37	4.49	4.49	0.54785	Cupin, RmlC-type (1);	0.131432	0.49305	D	0.000142	T	0.50154	0.1599	M	0.63208	1.945	0.54753	D	0.999985	P	0.47841	0.901	P	0.56216	0.794	T	0.47873	-0.9083	10	0.46703	T	0.11	7.7519	13.4278	0.61037	0.0:0.0:1.0:0.0	.	144	P46952	3HAO_HUMAN	M	144;110	ENSP00000294973:I144M;ENSP00000412601:I110M	ENSP00000294973:I144M	I	-	3	3	HAAO	42851145	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.061000	0.30542	2.447000	0.82792	0.550000	0.68814	ATC	HAAO	-	pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase		0.612	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAAO	HGNC	protein_coding	OTTHUMT00000325948.2	G			42997641	-1	no_errors	ENST00000294973	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42997641	G	C	42997641	3	2	91	1	0	0	0	0	1	0	0	0	6957	1280	45	1	452	1	HAAO	2	42997641	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	16463268	42997641	200201732	10	13127										
DNAH6	1768	genome.wustl.edu	37	chr2	84756217	84756217	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ttaaaataatacgtgaaaatGaacatcttggatttctttat	5	4	2	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:84756217G>A	ENST00000237449.6	+	3	597	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	DNAH6_ENST00000468661.1_Intron|DNAH6_ENST00000389394.3_Missense_Mutation_p.E197K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E197K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	197	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACGTGAAAATGAACATCTTGG	0.328																																																	0													95	75	81					2																	84756217		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.589G>A	2.37:g.84756217G>A	ENSP00000237449:p.Glu197Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E197K	ENST00000237449.6	37	c.589	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708534	0.30322	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.22945	1.93;2.06;1.93	4.93	3.79	0.43588	.	.	.	.	.	T	0.08358	0.0208	N	0.03608	-0.345	0.37785	D	0.927163	B	0.06786	0.001	B	0.04013	0.001	T	0.27262	-1.0079	9	0.07990	T	0.79	.	4.3642	0.11216	0.3198:0.0:0.6802:0.0	.	197	Q9C0G6	DYH6_HUMAN	K	197	ENSP00000374045:E197K;ENSP00000381326:E197K;ENSP00000237449:E197K	ENSP00000237449:E197K	E	+	1	0	DNAH6	84609728	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.741000	0.47426	2.424000	0.82194	0.561000	0.74099	GAA	DNAH6	-	NULL		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84756217	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84756217	G	A	84756217	3	1	91	1	0	0	0	0	1	0	0	0	4615	1291	45	1	599	1	DNAH6	2	84756217	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	41758576	84756217	158443156	11	13128										
TMEM177	80775	genome.wustl.edu	37	chr2	120439094	120439094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ctacgccttctcccaggattCtctcactcatgccgtggagt	8	15	4	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:120439094C>G	ENST00000424086.1	+	2	1138	c.665C>G	c.(664-666)tCt>tGt	p.S222C	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.S222C|TMEM177_ENST00000272521.6_Missense_Mutation_p.S222C	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	222						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TCCCAGGATTCTCTCACTCAT	0.607																																																	0													58	58	58					2																	120439094		2203	4300	6503	SO:0001583	missense	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.665C>G	2.37:g.120439094C>G	ENSP00000402661:p.Ser222Cys		Q9BT20	Missense_Mutation	SNP	NULL	p.S222C	ENST00000424086.1	37	c.665	CCDS2128.1	2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101779	0.37048	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521	T;T;T	0.37058	1.22;1.22;1.22	4.68	3.78	0.43462	.	0.123221	0.53938	D	0.000047	T	0.54532	0.1864	M	0.70595	2.14	0.42493	D	0.992908	D	0.76494	0.999	D	0.66847	0.947	T	0.58284	-0.7663	10	0.59425	D	0.04	-0.6813	11.4766	0.50302	0.0:0.9033:0.0:0.0967	.	222	Q53S58	TM177_HUMAN	C	222	ENSP00000385966:S222C;ENSP00000402661:S222C;ENSP00000272521:S222C	ENSP00000272521:S222C	S	+	2	0	TMEM177	120155564	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.462000	0.66707	2.333000	0.79357	0.448000	0.29417	TCT	TMEM177	-	NULL		0.607	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM177	HGNC	protein_coding	OTTHUMT00000330673.1	C	NM_030577		120439094	1	no_errors	ENST00000272521	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120439094	C	G	120439094	3	3	91	1	0	0	0	0	1	0	0	0	16124	913	32	1	667	1	TMEM177	2	120439094	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	35682877	120439094	122760279	12	13129										
LRP2	4036	genome.wustl.edu	37	chr2	170068628	170068628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tttaaatccagtggcacaggCgcaggaaaacaatcctcctg	9	11	0	0	rs142266106	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:170068628C>T	ENST00000263816.3	-	37	6415	c.6130G>A	c.(6130-6132)Gcc>Acc	p.A2044T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2044	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTGGCACAGGCGCAGGAAAAC	0.448													C|||	2	0.000399361	0	0	5008	,	,		18645	0.001		0	False		,,,				2504	0.001																0								C	THR/ALA	0,4406		0,0,2203	114	122	119		6130	5.9	1	2	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	no	missense	LRP2	NM_004525.2	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	2044/4656	170068628	5,13001	2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6130G>A	2.37:g.170068628C>T	ENSP00000263816:p.Ala2044Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A2044T	ENST00000263816.3	37	c.6130	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802422	0.90538	0.0	5.81E-4	ENSG00000081479	ENST00000263816	D	0.97016	-4.21	5.88	5.88	0.94601	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.049572	0.85682	D	0.000000	D	0.95968	0.8687	L	0.53780	1.695	0.80722	D	1	D	0.65815	0.995	P	0.51777	0.679	D	0.94708	0.7889	10	0.34782	T	0.22	.	14.9922	0.71396	0.1425:0.8575:0.0:0.0	.	2044	P98164	LRP2_HUMAN	T	2044	ENSP00000263816:A2044T	ENSP00000263816:A2044T	A	-	1	0	LRP2	169776874	1.000000	0.71417	0.991000	0.47740	0.785000	0.44390	4.622000	0.61240	2.780000	0.95670	0.655000	0.94253	GCC	LRP2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170068628	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170068628	C	T	170068628	3	4	91	1	0	0	0	0	1	0	0	0	8979	768	27	2	8009	2	LRP2	2	170068628	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	49629534	170068628	73130745	13	13130										
MAP2	4133	genome.wustl.edu	37	chr2	210559516	210559516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ggctactgtgtgttcaataaGtacacagtcccattgccatc	8	11	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:210559516G>T	ENST00000360351.4	+	7	3128	c.2622G>T	c.(2620-2622)aaG>aaT	p.K874N	MAP2_ENST00000447185.1_Missense_Mutation_p.K870N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	874					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGTTCAATAAGTACACAGTCC	0.453																																					Pancreas(27;423 979 28787 29963)												0													79	69	72					2																	210559516		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2622G>T	2.37:g.210559516G>T	ENSP00000353508:p.Lys874Asn		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.K874N	ENST00000360351.4	37	c.2622	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843030	0.51057	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.8	-1.39	0.08997	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000005	T	0.42291	0.1196	L	0.59436	1.845	0.40747	D	0.98288	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	T	0.32268	-0.9913	10	0.87932	D	0	-22.6064	13.5517	0.61736	0.4351:0.0:0.5649:0.0	.	870;874	P11137-3;P11137	.;MAP2_HUMAN	N	874;870	ENSP00000353508:K874N;ENSP00000392164:K870N	ENSP00000353508:K874N	K	+	3	2	MAP2	210267761	0.811000	0.29063	0.988000	0.46212	0.958000	0.62258	0.031000	0.13710	-0.476000	0.06842	-0.295000	0.09555	AAG	MAP2	-	pfam_MAP2_projctn		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210559516	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.988	T	T	210559516	G	T	210559516	3	4	91	1	0	0	0	0	1	0	0	0	9258	1020	36	4	2636	4	MAP2	2	210559516	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	40490888	210559516	32639857	14	13131										
UGT1A7	54577	genome.wustl.edu	37	chr2	234590905	234590905	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cattgcgaagtgcattttctCtattaacaagttcatccaat	5	9	2	0	rs201200762		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:234590905C>T	ENST00000373426.3	+	1	322	c.322C>T	c.(322-324)Cta>Tta	p.L108L	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	108					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TGCATTTTCTCTATTAACAAG	0.398																																																	0													102	101	101					2																	234590905		2203	4300	6503	SO:0001819	synonymous_variant	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.322C>T	2.37:g.234590905C>T			B8K293|O00473	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L108	ENST00000373426.3	37	c.322	CCDS2506.1	2																																																																																			UGT1A7	-	pfam_UDP_glucos_trans		0.398	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	C	NM_019077		234590905	1	no_errors	ENST00000373426	ensembl	human	known	70_37	silent	SNP	0.000	T	T	234590905	C	T	234590905	2	4	91	1	0	0	0	0	0	0	0	1	16981	912	32	1		1	UGT1A7	2	234590905	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	24031389	234590905	8608468	15	13132										
CNTN6	27255	genome.wustl.edu	37	chr3	1415661	1415661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	caacagtggttggtttgagtCcttgggtggaatatgaattt	13	4	0	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:1415661C>T	ENST00000446702.2	+	16	2626	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S	CNTN6_ENST00000539053.1_Missense_Mutation_p.P595S|CNTN6_ENST00000350110.2_Missense_Mutation_p.P667S			Q9UQ52	CNTN6_HUMAN	contactin 6	667	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTTTGAGTCCTTGGGTGGA	0.408																																																	0													134	125	128					3																	1415661		2203	4300	6503	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1999C>T	3.37:g.1415661C>T	ENSP00000407822:p.Pro667Ser		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P667S	ENST00000446702.2	37	c.1999	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889122	0.72524	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.68479	-0.33;-0.33;-0.33	4.84	3.96	0.45880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.75421	0.3847	M	0.93241	3.395	0.54753	D	0.999988	B	0.12630	0.006	B	0.23716	0.048	T	0.76908	-0.2785	10	0.87932	D	0	.	13.1921	0.59717	0.0:0.922:0.0:0.078	.	667	Q9UQ52	CNTN6_HUMAN	S	667;595;667	ENSP00000407822:P667S;ENSP00000442791:P595S;ENSP00000341882:P667S	ENSP00000341882:P667S	P	+	1	0	CNTN6	1390661	0.931000	0.31567	0.998000	0.56505	0.984000	0.73092	1.732000	0.38146	1.147000	0.42369	0.655000	0.94253	CCT	CNTN6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.408	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	C	NM_014461		1415661	1	no_errors	ENST00000350110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1415661	C	T	1415661	3	4	91	1	0	0	0	0	1	0	0	0	3650	855	30	1	2057	1	CNTN6	3	1415661	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		1415661	196606769	16	13133										
KCNH8	131096	genome.wustl.edu	37	chr3	19554568	19554568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ggaggcagtctccctctctcCcatctgcacaaggggatctt	10	14	4	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:19554568C>A	ENST00000328405.2	+	13	2452	c.2186C>A	c.(2185-2187)cCc>cAc	p.P729H		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	729					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCCTCTCTCCCATCTGCACA	0.547																																					NSCLC(124;1625 1765 8018 24930 42026)												0													69	56	61					3																	19554568		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2186C>A	3.37:g.19554568C>A	ENSP00000328813:p.Pro729His		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.P729H	ENST00000328405.2	37	c.2186	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185660	0.38609	.	.	ENSG00000183960	ENST00000328405	D	0.98717	-5.09	5.68	5.68	0.88126	.	0.000000	0.31660	U	0.007265	D	0.97216	0.9090	L	0.55481	1.735	0.44539	D	0.997499	B	0.19935	0.04	B	0.18561	0.022	D	0.95584	0.8649	9	.	.	.	.	17.9758	0.89127	0.0:1.0:0.0:0.0	.	729	Q96L42	KCNH8_HUMAN	H	729	ENSP00000328813:P729H	.	P	+	2	0	KCNH8	19529572	1.000000	0.71417	0.995000	0.50966	0.351000	0.29236	5.038000	0.64177	2.674000	0.91012	0.585000	0.79938	CCC	KCNH8	-	NULL		0.547	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	C	NM_144633		19554568	1	no_errors	ENST00000328405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19554568	C	A	19554568	3	1	91	1	0	0	0	0	1	0	0	0	8058	623	22	4	2236	4	KCNH8	3	19554568	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	18138907	19554568	178467862	17	13134										
TGFBR2	7048	genome.wustl.edu	37	chr3	30713254	30713254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tactgctaccgcgttaaccgGcagcagaagctgagttcaac	10	12	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:30713254G>A	ENST00000295754.5	+	4	961	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TGFBR2_ENST00000359013.4_Silent_p.R218R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	193					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GCGTTAACCGGCAGCAGAAGC	0.527																																																	0													70	61	64					3																	30713254		2203	4300	6503	SO:0001819	synonymous_variant	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.579G>A	3.37:g.30713254G>A			B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.R218	ENST00000295754.5	37	c.654	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2		0.527	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	G			30713254	1	no_errors	ENST00000359013	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30713254	G	A	30713254	2	1	91	1	0	0	0	0	0	0	0	1	15852	1190	42	4		4	TGFBR2	3	30713254	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	11158686	30713254	167309176	18	13135										
DNAH1	25981	genome.wustl.edu	37	chr3	52384120	52384120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cccggagaggctggtgggccTggaggtgaggcaggcacacg	20	10	0	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:52384120T>C	ENST00000420323.2	+	15	2903	c.2642T>C	c.(2641-2643)cTg>cCg	p.L881P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	881	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTGGGCCTGGAGGTGAGG	0.652																																																	0													23	28	26					3																	52384120		2099	4221	6320	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2642T>C	3.37:g.52384120T>C	ENSP00000401514:p.Leu881Pro		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L881P	ENST00000420323.2	37	c.2642	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757374	0.49468	.	.	ENSG00000114841	ENST00000420323	T	0.28666	1.6	5.34	5.34	0.76211	.	0.202660	0.24599	N	0.037148	T	0.51635	0.1686	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.71674	0.978;0.998	P;D	0.70016	0.873;0.967	T	0.54807	-0.8238	10	0.72032	D	0.01	.	10.3459	0.43906	0.1839:0.0:0.0:0.8161	.	881;881	C9JXH6;Q9P2D7-3	.;.	P	881	ENSP00000401514:L881P	ENSP00000401514:L881P	L	+	2	0	DNAH1	52359160	1.000000	0.71417	0.958000	0.39756	0.819000	0.46315	4.337000	0.59310	2.019000	0.59389	0.533000	0.62120	CTG	DNAH1	-	NULL		0.652	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	T	NM_015512		52384120	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.919	C	C	52384120	T	C	52384120	3	2	91	1	0	0	0	0	1	0	0	0	4607	1580	55	5	2696	5	DNAH1	3	52384120	Missense_Mutation	SNP	T	TCGA-EA-A6QX-01A-12D-A33O-09	21670866	52384120	145638310	19	13136										
DNAH1	25981	genome.wustl.edu	37	chr3	52391686	52391686	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agcctgcgggactgcaacaaGattctggacctggtgcagaa	13	10	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:52391686G>T	ENST00000420323.2	+	23	4176	c.3915G>T	c.(3913-3915)aaG>aaT	p.K1305N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1305	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGCAACAAGATTCTGGACC	0.617																																																	0													29	34	32					3																	52391686		2051	4196	6247	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3915G>T	3.37:g.52391686G>T	ENSP00000401514:p.Lys1305Asn		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.K1305N	ENST00000420323.2	37	c.3915	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670823	0.67814	.	.	ENSG00000114841	ENST00000420323	T	0.61392	0.11	5.28	4.28	0.50868	.	0.621363	0.15005	N	0.285865	T	0.46073	0.1374	L	0.38838	1.175	0.40554	D	0.981143	B	0.31227	0.314	B	0.38921	0.285	T	0.46775	-0.9167	10	0.29301	T	0.29	.	3.3983	0.07313	0.3757:0.0:0.6243:0.0	.	1305	C9JXH6	.	N	1305	ENSP00000401514:K1305N	ENSP00000401514:K1305N	K	+	3	2	DNAH1	52366726	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.982000	0.29539	2.474000	0.83562	0.561000	0.74099	AAG	DNAH1	-	pfam_Dynein_heavy_dom-2		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52391686	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52391686	G	T	52391686	3	4	91	1	0	0	0	0	1	0	0	0	4607	933	33	3	4001	3	DNAH1	3	52391686	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	7566	52391686	145630744	20	13137										
LSAMP	4045	genome.wustl.edu	37	chr3	115560788	115560788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agtgacgttggtcaccgtcaGggaagactggccctccgtgc	14	12	2	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:115560788G>T	ENST00000490035.2	-	6	1322	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	LSAMP_ENST00000539563.1_Missense_Mutation_p.L272M|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	275	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTCACCGTCAGGGAAGACTGG	0.488																																																	0													116	98	104					3																	115560788		2203	4300	6503	SO:0001583	missense	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.823C>A	3.37:g.115560788G>T	ENSP00000419000:p.Leu275Met		Q8IV49	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L275M	ENST00000490035.2	37	c.823	CCDS2982.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407818	0.83340	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	D;D;D	0.89050	-2.46;-2.46;-2.46	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	M	0.93898	3.47	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	D	0.96608	0.9450	10	0.87932	D	0	-4.0684	20.206	0.98277	0.0:0.0:1.0:0.0	.	275;275	B2RCU8;Q13449	.;LSAMP_HUMAN	M	259;275;272	ENSP00000328455:L259M;ENSP00000419000:L275M;ENSP00000443429:L272M	ENSP00000328455:L259M	L	-	1	2	LSAMP	117043478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.785000	0.95823	0.655000	0.94253	CTG	LSAMP	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.488	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	HGNC	protein_coding	OTTHUMT00000354495.4	G	NM_002338		115560788	-1	no_errors	ENST00000490035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115560788	G	T	115560788	3	4	91	1	0	0	0	0	1	0	0	0	9071	991	35	4	201	4	LSAMP	3	115560788	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	63169102	115560788	82461642	21	13138										
SCOC	60592	genome.wustl.edu	37	chr4	141264834	141264834	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gaggaggaagacagcacattCaccaacatttctcttgcaga	9	10	2	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr4:141264834C>G	ENST00000394205.3	+	2	185	c.42C>G	c.(40-42)ttC>ttG	p.F14L	RP11-425I13.3_ENST00000512692.2_RNA|SCOC_ENST00000394203.3_Missense_Mutation_p.F14L|SCOC_ENST00000338517.4_Missense_Mutation_p.F14L|SCOC_ENST00000506322.1_5'UTR	NM_032547.2	NP_115936.2	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	0					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					ACAGCACATTCACCAACATTT	0.373																																																	0													118	106	110					4																	141264834		2203	4300	6503	SO:0001583	missense	60592			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000394205.3:c.42C>G	4.37:g.141264834C>G	ENSP00000377755:p.Phe14Leu		B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	pfam_DUF2205_coiled-coil	p.F14L	ENST00000394205.3	37	c.42	CCDS3750.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027763	0.54790	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203	.	.	.	5.62	4.76	0.60689	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.46061	D	0.998849	B;B	0.23128	0.08;0.08	B;B	0.20955	0.032;0.032	T	0.20438	-1.0275	7	0.25106	T	0.35	.	10.5711	0.45200	0.0:0.912:0.0:0.088	.	14;14	Q9UIL1-3;Q9UIL1-2	.;.	L	14	.	ENSP00000345262:F14L	F	+	3	2	SCOC	141484284	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.309000	0.33539	2.927000	0.99377	0.637000	0.83480	TTC	SCOC	-	NULL		0.373	SCOC-003	KNOWN	basic|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257276.2	C			141264834	1	no_errors	ENST00000338517	ensembl	human	known	70_37	missense	SNP	1.000	G	G	141264834	C	G	141264834	3	3	91	1	0	0	0	0	1	0	0	0	13963	825	29	1	44	1	SCOC	4	141264834	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		141264834	49889442	22	13139										
HARS2	23438	genome.wustl.edu	37	chr5	140077661	140077661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gttcagtggccagcagagagGaggtgagtggcggcagcaga	19	7	1	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:140077661G>A	ENST00000230771.3	+	12	1682	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	HARS2_ENST00000437649.2_Missense_Mutation_p.E413K|HARS2_ENST00000435019.2_Missense_Mutation_p.E447K|HARS2_ENST00000448069.2_Missense_Mutation_p.E315K|HARS2_ENST00000432671.2_Missense_Mutation_p.E373K|HARS2_ENST00000508522.1_Missense_Mutation_p.E462K|ZMAT2_ENST00000274712.3_5'Flank	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	487					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGAGGAGGTGAGTGG	0.468																																																	0													58	57	57					5																	140077661		2203	4300	6503	SO:0001583	missense	23438			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4817	protein-coding gene	gene with protein product	"histidine tRNA ligase 2, mitochondrial (putative)"	600783	"histidyl-tRNA synthetase-like"	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.1459G>A	5.37:g.140077661G>A	ENSP00000230771:p.Glu487Lys		B4DDY8	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase	p.E487K	ENST00000230771.3	37	c.1459	CCDS4238.1	5	.	.	.	.	.	.	.	.	.	.	g	35	5.570871	0.96540	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.26	5.26	0.73747	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.92554	0.7635	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93445	0.6797	10	0.54805	T	0.06	-0.5976	19.0611	0.93093	0.0:0.0:1.0:0.0	.	340;315;413;462;487	E9PD60;B4DQ67;E9PG66;B4DDY8;P49590	.;.;.;.;SYHM_HUMAN	K	487;447;413;373;462;315;326	ENSP00000230771:E487K;ENSP00000412887:E447K;ENSP00000411708:E413K;ENSP00000415007:E373K;ENSP00000423616:E462K;ENSP00000407105:E315K	ENSP00000230771:E487K	E	+	1	0	HARS2	140057845	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	GAG	HARS2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase		0.468	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS2	HGNC	protein_coding	OTTHUMT00000251670.2	G	NM_012208		140077661	1	no_errors	ENST00000230771	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140077661	G	A	140077661	3	1	91	1	0	0	0	0	1	0	0	0	6980	1175	41	1	1505	1	HARS2	5	140077661	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		140077661	40837599	23	13140										
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730212	140730212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	atattaatgacaatgcaccaCgtttcgttgcaaaaggcatt	7	8	0	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:140730212C>T	ENST00000523390.1	+	1	385	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCACCACGTTTCGTTGC	0.423																																																	0													79	79	79					5																	140730212		1878	4122	6000	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.385C>T	5.37:g.140730212C>T	ENSP00000429273:p.Arg129Cys		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R129C	ENST00000523390.1	37	c.385	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	2.574	-0.299049	0.05532	.	.	ENSG00000254221	ENST00000523390	T	0.21031	2.03	5.36	-2.61	0.06171	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.19967	0.0480	M	0.74467	2.265	0.09310	N	1	B;B	0.16166	0.016;0.008	B;B	0.15484	0.013;0.006	T	0.33904	-0.9850	9	0.45353	T	0.12	.	4.1596	0.10277	0.3245:0.3478:0.0:0.3278	.	129;129	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	129	ENSP00000429273:R129C	ENSP00000429273:R129C	R	+	1	0	PCDHGB1	140710396	0.000000	0.05858	0.008000	0.14137	0.117000	0.20001	-2.353000	0.01090	-0.411000	0.07530	-0.251000	0.11542	CGT	PCDHGB1	-	superfamily_Cadherin-like,pfscan_Cadherin		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	C	NM_018922		140730212	1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140730212	C	T	140730212	3	4	91	1	0	0	0	0	1	0	0	0	11586	536	19	2	387	2	PCDHGB1	5	140730212	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	652551	140730212	40185048	24	13141										
FAT2	2196	genome.wustl.edu	37	chr5	150889679	150889679	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gggtgcaaaagtacagttctCccttccttgttcacagtgct	9	11	2	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:150889679C>G	ENST00000261800.5	-	21	11974	c.11962G>C	c.(11962-11964)Gag>Cag	p.E3988Q	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3988	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACAGTTCTCCCTTCCTTGT	0.527																																																	0													153	151	151					5																	150889679		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11962G>C	5.37:g.150889679C>G	ENSP00000261800:p.Glu3988Gln		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E3988Q	ENST00000261800.5	37	c.11962	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.453|6.453	0.451701|0.451701	0.12223|0.12223	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	D|.	0.91792|.	-2.91|.	5.12|5.12	4.25|4.25	0.50352|0.50352	Epidermal growth factor-like, type 3 (1);|.	0.877726|.	0.09975|.	N|.	0.731744|.	T|T	0.24084|0.24084	0.0583|0.0583	N|N	0.17312|0.17312	0.475|0.475	0.09310|0.09310	N|N	1|1	B;B|.	0.28128|.	0.003;0.201|.	B;B|.	0.26770|.	0.002;0.073|.	T|T	0.18524|0.18524	-1.0334|-1.0334	10|5	0.38643|.	T|.	0.18|.	.|.	8.5831|8.5831	0.33642|0.33642	0.0:0.7766:0.0:0.2234|0.0:0.7766:0.0:0.2234	.|.	3988;1093|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	Q|A	3988|760	ENSP00000261800:E3988Q|.	ENSP00000261800:E3988Q|.	E|G	-|-	1|2	0|0	FAT2|FAT2	150869872|150869872	0.056000|0.056000	0.20664|0.20664	0.193000|0.193000	0.23327|0.23327	0.055000|0.055000	0.15305|0.15305	2.332000|2.332000	0.43903|0.43903	1.150000|1.150000	0.42419|0.42419	0.655000|0.655000	0.94253|0.94253	GAG|GGA	FAT2	-	smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150889679	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.104	G	G	150889679	C	G	150889679	3	3	91	1	0	0	0	0	1	0	0	0	5708	864	30	1	1099	1	FAT2	5	150889679	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	10159467	150889679	30025581	25	13142										
ODZ2	57451	genome.wustl.edu	37	chr5	167642273	167642273	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gatgcaaccctgatgagcccGagaggtaaaggacatcaagg	13	9	1	3	rs374089694		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:167642273G>A	ENST00000518659.1	+	21	4113	c.4074G>A	c.(4072-4074)ccG>ccA	p.P1358P	TENM2_ENST00000519204.1_Silent_p.P1237P|TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000520394.1_Silent_p.P1119P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1358					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGATGAGCCCGAGAGGTAAAG	0.537																																																	0								A		0,3900		0,0,1950	68	73	71		4047	-9.8	0	5		71	1,8309		0,1,4154	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6104	AA,AG,GG		0.012,0.0,0.0082		1349/2766	167642273	1,12209	1950	4155	6105	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4074G>A	5.37:g.167642273G>A			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P1358	ENST00000518659.1	37	c.4074		5																																																																																			TENM2	-	superfamily_ConA-like_lec_gl_sf		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167642273	1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	0.000	A	A	167642273	G	A	167642273	2	1	91	1	0	0	0	0	0	0	0	1	10859	1045	37	1		1	ODZ2	5	167642273	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	16752594	167642273	13272987	26	13143										
HIVEP1	3096	genome.wustl.edu	37	chr6	12122774	12122774	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aaagtcatgttcttggtactGgacagtccctggatgagagc	12	8	2	1	rs574039329		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:12122774G>T	ENST00000379388.2	+	4	3078	c.2746G>T	c.(2746-2748)Gga>Tga	p.G916*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G916R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTGGTACTGGACAGTCCCT	0.517																																																	1	Substitution - Missense(1)	ovary(1)											54	56	55					6																	12122774		2049	4191	6240	SO:0001587	stop_gained	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2746G>T	6.37:g.12122774G>T	ENSP00000368698:p.Gly916*		B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G916*	ENST00000379388.2	37	c.2746	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.018466	0.98613	.	.	ENSG00000095951	ENST00000379388	.	.	.	6.02	3.95	0.45737	.	0.314395	0.18109	N	0.151439	.	.	.	.	.	.	0.24271	N	0.99524	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0355	9.4475	0.38706	0.1426:0.0:0.7358:0.1216	.	.	.	.	X	916	.	.	G	+	1	0	HIVEP1	12230760	0.209000	0.23505	0.630000	0.29268	0.383000	0.30230	1.616000	0.36933	1.569000	0.49696	0.655000	0.94253	GGA	HIVEP1	-	NULL		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12122774	1	no_errors	ENST00000379388	ensembl	human	known	70_37	nonsense	SNP	0.159	T	T	12122774	G	T	12122774	4	4	91	1	0	0	0	0	0	1	0	0	7206	1349	47	4	2756	4	HIVEP1	6	12122774	Nonsense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		12122774	158992293	27	13144										
TNXB	7148	genome.wustl.edu	37	chr6	32026140	32026140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tgcctggttctgtagggctgGgggtctcgtccacatcctct	13	12	3	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:32026140G>T	ENST00000375244.3	-	22	7721	c.7520C>A	c.(7519-7521)cCc>cAc	p.P2507H	TNXB_ENST00000375247.2_Missense_Mutation_p.P2507H			P22105	TENX_HUMAN	tenascin XB	2567	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTAGGGCTGGGGGTCTCGTC	0.582																																																	0													19	23	22					6																	32026140		1188	2524	3712	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7520C>A	6.37:g.32026140G>T	ENSP00000364393:p.Pro2507His		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P2507H	ENST00000375244.3	37	c.7520		6	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825810	0.32237	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58358	0.54;0.34	4.21	4.21	0.49690	.	0.000000	0.41294	D	0.000917	T	0.21801	0.0525	L	0.29908	0.895	0.26172	N	0.979841	P	0.41569	0.755	B	0.34301	0.179	T	0.11203	-1.0597	10	0.62326	D	0.03	.	11.9769	0.53098	0.0:0.0:1.0:0.0	.	2507	P22105-3	.	H	2507	ENSP00000364393:P2507H;ENSP00000364396:P2507H	ENSP00000364393:P2507H	P	-	2	0	TNXB	32134118	0.885000	0.30320	0.992000	0.48379	0.512000	0.34134	2.878000	0.48515	2.167000	0.68274	0.650000	0.86243	CCC	TNXB	-	NULL		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	G	NM_019105		32026140	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.945	T	T	32026140	G	T	32026140	3	4	91	1	0	0	0	0	1	0	0	0	16376	1232	43	4	7285	4	TNXB	6	32026140	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	19903366	32026140	139088927	28	13145										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34827265	34827265	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gacctcaccaaggaagctgtGtccctgactaaggatgcctt	10	12	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:34827265G>T	ENST00000192788.5	+	14	3303	c.3132G>T	c.(3130-3132)gtG>gtT	p.V1044V	UHRF1BP1_ENST00000452449.2_Silent_p.V1044V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1044							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517																																																	0													113	117	116					6																	34827265		2114	4223	6337	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3132G>T	6.37:g.34827265G>T			Q9NXE0	Silent	SNP	NULL	p.V1044	ENST00000192788.5	37	c.3132	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL		0.517	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34827265	1	no_errors	ENST00000192788	ensembl	human	known	70_37	silent	SNP	0.997	T	T	34827265	G	T	34827265	2	4	91	1	0	0	0	0	0	0	0	1	16999	1364	48	4		4	UHRF1BP1	6	34827265	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	2801125	34827265	136287802	29	13146										
COL19A1	1310	genome.wustl.edu	37	chr6	70916910	70916910	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agggccccccaggacccagtGgaagatgtaacccagaagat	12	12	0	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:70916910G>T	ENST00000322773.4	+	51	3463	c.3361G>T	c.(3361-3363)Gga>Tga	p.G1121*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.G743*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1121					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGACCCAGTGGAAGATGTAA	0.512																																																	0													147	171	163					6																	70916910		2203	4300	6503	SO:0001587	stop_gained	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3361G>T	6.37:g.70916910G>T	ENSP00000316030:p.Gly1121*		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G1121*	ENST00000322773.4	37	c.3361	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	41	9.062673	0.99053	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4528	0.90710	0.0:0.0:1.0:0.0	.	.	.	.	X	1121;743	.	ENSP00000316030:G1121X	G	+	1	0	COL19A1	70973631	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.768000	0.74980	2.793000	0.96121	0.563000	0.77884	GGA	COL19A1	-	NULL		0.512	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70916910	1	no_errors	ENST00000322773	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70916910	G	T	70916910	4	4	91	1	0	0	0	0	0	1	0	0	3681	1349	47	4	3559	4	COL19A1	6	70916910	Nonsense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	36089645	70916910	100198157	30	13147										
BVES	11149	genome.wustl.edu	37	chr6	105563703	105563703	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tgttccagctttttggctttCtacaaagcaaagttttaagc	7	8	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:105563703C>A	ENST00000314641.5	-	7	1033		c.e7-1		BVES_ENST00000336775.5_Splice_Site|BVES_ENST00000446408.2_Splice_Site	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance						epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTTTGGCTTTCTACAAAGCAA	0.413																																																	0													113	97	102					6																	105563703		2203	4300	6503	SO:0001630	splice_region_variant	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.817-1G>T	6.37:g.105563703C>A			A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Splice_Site	SNP	-	e6-1	ENST00000314641.5	37	c.817-1	CCDS5051.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665301	0.88251	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9906	0.97362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BVES	105670396	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.595000	0.82710	2.822000	0.97130	0.563000	0.77884	.	BVES	-	-		0.413	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	C	NM_147147	Intron	105563703	-1	no_errors	ENST00000314641	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	105563703	C	A	105563703	5	1	91	1	0	0	0	0	0	0	1	0	1578	927	32	3	274	3	BVES	6	105563703	Splice_Site	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	34646793	105563703	65551364	31	13148										
SMPD2	6610	genome.wustl.edu	37	chr6	109762559	109762559	+	Splice_Site	DEL	G	G	-													0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ccccgctcttcccttccttaGgggcattccgtacttgagca							TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:109762559delG	ENST00000258052.3	+	2	409		c.e2-1		PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)						apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CCCTTCCTTAGGGGCATTCCG	0.632																																																	0													45	51	49					6																	109762559		2203	4300	6503	SO:0001630	splice_region_variant	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.51-1G>-	6.37:g.109762559delG			Q5TED1|Q9BWR3	Splice_Site	DEL	-	e2-1	ENST00000258052.3	37	c.51-1	CCDS5075.1	6																																																																																			SMPD2	-	-		0.632	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	G		Intron	109762559	1	no_errors	ENST00000258052	ensembl	human	known	70_37	splice_site_del	DEL	1.000	-	-	109762559	G	-	109762559	8	5	91	1	0	1	0	1	0	0	1	0	14835	1014	35	0	56	0	SMPD2	6	109762559	Splice_Site	DEL	G	TCGA-EA-A6QX-01A-12D-A33O-09	4198856	109762559	61352508	32	13149										
GRM1	2911	genome.wustl.edu	37	chr6	146755620	146755620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tttggggaggagctggtctcCccgcccgcggacgacgacga	16	13	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:146755620C>T	ENST00000282753.1	+	8	3508	c.3273C>T	c.(3271-3273)tcC>tcT	p.S1091S	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Silent_p.S1091S|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1091					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCTGGTCTCCCCGCCCGCGG	0.662																																																	0													64	70	68					6																	146755620		2203	4300	6503	SO:0001819	synonymous_variant	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3273C>T	6.37:g.146755620C>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.S1091	ENST00000282753.1	37	c.3273	CCDS5209.1	6																																																																																			GRM1	-	NULL		0.662	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	C	NM_000838		146755620	1	no_errors	ENST00000282753	ensembl	human	known	70_37	silent	SNP	0.645	T	T	146755620	C	T	146755620	2	4	91	1	0	0	0	0	0	0	0	1	6816	610	22	4		4	GRM1	6	146755620	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	36993061	146755620	24359447	33	13150										
LATS1	9113	genome.wustl.edu	37	chr6	150005408	150005408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tccagaatagcgctttgtttGagagtttggttcccatgaag	11	7	0	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:150005408G>A	ENST00000543571.1	-	4	1364	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.Q273*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Nonsense_Mutation_p.Q273*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CGCTTTGTTTGAGAGTTTGGT	0.532																																																	0													184	176	179					6																	150005408		2203	4300	6503	SO:0001587	stop_gained	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.817C>T	6.37:g.150005408G>A	ENSP00000437550:p.Gln273*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.Q273*	ENST00000543571.1	37	c.817	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401859	0.83120	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	.	.	.	4.83	4.83	0.62350	.	0.000000	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8958	0.88887	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	.	Q	-	1	0	LATS1	150047101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.699000	0.61796	2.221000	0.72209	0.655000	0.94253	CAA	LATS1	-	NULL		0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005408	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	150005408	G	A	150005408	4	1	91	1	0	0	0	0	0	1	0	0	8666	1299	45	1	2595	1	LATS1	6	150005408	Nonsense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	3249788	150005408	21109659	34	13151										
SYTL3	94120	genome.wustl.edu	37	chr6	159183155	159183155	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aactttgtttggtagtgctaGgagccaagaatttacctgtg	11	6	0	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:159183155G>T	ENST00000297239.9	+	15	1656	c.1462G>T	c.(1462-1464)Gga>Tga	p.G488*	SYTL3_ENST00000367081.3_Nonsense_Mutation_p.G214*|MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.G420*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	488	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GGTAGTGCTAGGAGCCAAGAA	0.423																																																	0													241	188	206					6																	159183155		2203	4300	6503	SO:0001587	stop_gained	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1462G>T	6.37:g.159183155G>T	ENSP00000297239:p.Gly488*		Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.G488*	ENST00000297239.9	37	c.1462	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.227673	0.98714	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	.	.	.	5.02	4.15	0.48705	.	0.114382	0.38720	N	0.001599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.7056	0.69189	0.0:0.1448:0.8552:0.0	.	.	.	.	X	420;488;488;214	.	ENSP00000297239:G488X	G	+	1	0	SYTL3	159103143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.579000	0.60936	1.439000	0.47511	0.655000	0.94253	GGA	SYTL3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.423	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	G			159183155	1	no_errors	ENST00000297239	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	159183155	G	T	159183155	4	4	91	1	0	0	0	0	0	1	0	0	15514	1001	35	4	1300	4	SYTL3	6	159183155	Nonsense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	9177747	159183155	11931912	35	13152										
EGFR	1956	genome.wustl.edu	37	chr7	55242423	55242423	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tctctgtcatagggactctgGatcccagaaggtgagaaagt	12	8	3	2	rs121913467		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:55242423G>A	ENST00000275493.2	+	19	2370	c.2193G>A	c.(2191-2193)tgG>tgA	p.W731*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.W686*|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W678*|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.W731*(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGGGACTCTGGATCCCAGAAG	0.473		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	2	Substitution - Nonsense(2)	adrenal_gland(1)|lung(1)											90	90	90					7																	55242423		2203	4300	6503	SO:0001587	stop_gained	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2193G>A	7.37:g.55242423G>A	ENSP00000275493:p.Trp731*		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.W731*	ENST00000275493.2	37	c.2193	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.311080	0.99133	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.56	5.56	0.83823	.	0.053119	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0753	0.89425	0.0:0.0:1.0:0.0	.	.	.	.	X	686;601;731;678	.	ENSP00000275493:W731X	W	+	3	0	EGFR	55209917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.754000	0.98908	2.605000	0.88082	0.561000	0.74099	TGG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,pfscan_Prot_kinase_cat_dom		0.473	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	G	NM_005228		55242423	1	no_errors	ENST00000275493	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55242423	G	A	55242423	4	1	91	1	0	0	0	0	0	1	0	0	4977	1183	41	1	2531	1	EGFR	7	55242423	Nonsense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		55242423	103896240	36	13153										
GRM8	2918	genome.wustl.edu	37	chr7	126249491	126249491	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ttggttatttgatactggaaGatatcataacgtccaggagc	10	6	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:126249491G>A	ENST00000339582.2	-	8	2227	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Silent_p.I473I|GRM8_ENST00000405249.1_Missense_Mutation_p.S497F|GRM8_ENST00000444921.2_Silent_p.I473I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	473					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GATACTGGAAGATATCATAAC	0.363										HNSCC(24;0.065)																																							0													178	156	163					7																	126249491		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1419C>T	7.37:g.126249491G>A			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S497F	ENST00000339582.2	37	c.1490	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920061	0.33908	.	.	ENSG00000179603	ENST00000405249	D	0.90324	-2.65	5.45	3.14	0.36123	.	.	.	.	.	D	0.88269	0.6391	.	.	.	0.25322	N	0.989109	.	.	.	.	.	.	T	0.80975	-0.1142	6	0.87932	D	0	.	5.0107	0.14312	0.1494:0.0:0.6406:0.21	.	.	.	.	F	497	ENSP00000385731:S497F	ENSP00000345747:S497F	S	-	2	0	GRM8	126036727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.814000	0.38972	2.535000	0.85469	0.563000	0.77884	TCT	GRM8	-	NULL		0.363	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	G			126249491	-1	no_errors	ENST00000341617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126249491	G	A	126249491	2	1	91	1	0	0	0	0	0	0	0	1	6823	932	33	1		1	GRM8	7	126249491	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	71007068	126249491	32889172	37	13154										
PLXNA4	91584	genome.wustl.edu	37	chr7	131913203	131913203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cctgcggggctccttggaccGctcacaccgctccttccggg	12	18	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:131913203G>A	ENST00000359827.3	-	6	2592	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R544W			Q9HCM2	PLXA4_HUMAN	plexin A4	544	PSI 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCTTGGACCGCTCACACCGC	0.602																																																	0													63	68	66					7																	131913203		1991	4171	6162	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1630C>T	7.37:g.131913203G>A	ENSP00000352882:p.Arg544Trp		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R544W	ENST00000359827.3	37	c.1630	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812986	0.70912	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.19938	2.11;2.11	5.79	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71076	-0.4697	10	0.87932	D	0	.	16.1323	0.81449	0.0:0.0:0.6416:0.3584	.	544	Q9HCM2	PLXA4_HUMAN	W	544	ENSP00000323194:R544W;ENSP00000352882:R544W	ENSP00000323194:R544W	R	-	1	2	PLXNA4	131563743	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.646000	0.61411	0.737000	0.32582	0.655000	0.94253	CGG	PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	G	NM_181775		131913203	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131913203	G	A	131913203	3	1	91	1	0	0	0	0	1	0	0	0	12146	1086	38	2	4162	2	PLXNA4	7	131913203	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	5663712	131913203	27225460	38	13155										
AKR1D1	6718	genome.wustl.edu	37	chr7	137761304	137761304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gtcaccgcatacctctaagtGatggaaacagcattcccatc	7	13	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:137761304G>A	ENST00000242375.3	+	1	82	c.40G>A	c.(40-42)Gat>Aat	p.D14N	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D14N|AKR1D1_ENST00000432161.1_Missense_Mutation_p.D14N	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	14				D -> V (in Ref. 3; BAF82114). {ECO:0000305}.	androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	ACCTCTAAGTGATGGAAACAG	0.428																																																	0													217	171	186					7																	137761304		2203	4300	6503	SO:0001583	missense	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.40G>A	7.37:g.137761304G>A	ENSP00000242375:p.Asp14Asn		A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.D14N	ENST00000242375.3	37	c.40	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953783	0.73902	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.92	4.92	0.64577	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.10664	0.02	0.49798	D	0.999827	P;B;P	0.45078	0.717;0.171;0.85	B;B;B	0.38428	0.263;0.063;0.273	T	0.06215	-1.0839	10	0.23302	T	0.38	.	13.8114	0.63266	0.0:0.0:1.0:0.0	.	14;14;14	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	N	14	ENSP00000389197:D14N;ENSP00000402374:D14N;ENSP00000242375:D14N;ENSP00000397042:D14N	ENSP00000242375:D14N	D	+	1	0	AKR1D1	137411844	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	3.205000	0.51090	2.721000	0.93114	0.650000	0.86243	GAT	AKR1D1	-	superfamily_NADP_OxRdtase_dom		0.428	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	G	NM_005989		137761304	1	no_errors	ENST00000242375	ensembl	human	known	70_37	missense	SNP	0.993	A	A	137761304	G	A	137761304	3	1	91	1	0	0	0	0	1	0	0	0	473	1290	45	1	42	1	AKR1D1	7	137761304	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	5848101	137761304	21377359	39	13156										
UHRF2	115426	genome.wustl.edu	37	chr9	6434148	6434148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gtgttgctgctgatgaagacGttatttaccatatccagtat	9	7	0	3	rs371780891		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr9:6434148G>A	ENST00000276893.5	+	3	787	c.619G>A	c.(619-621)Gtt>Att	p.V207I	RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	207	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TGATGAAGACGTTATTTACCA	0.338																																																	0								G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98	88	91		619	2.8	1	9		91	0,8600		0,0,4300	no	missense	UHRF2	NM_152896.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	207/803	6434148	1,13005	2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.619G>A	9.37:g.6434148G>A	ENSP00000276893:p.Val207Ile		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.V207I	ENST00000276893.5	37	c.619	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229543	0.22542	2.27E-4	0.0	ENSG00000147854	ENST00000276893	D	0.85702	-2.02	5.61	2.77	0.32553	Domain of unknown function DUF3590 (1);	0.279439	0.33875	N	0.004476	T	0.71108	0.3301	N	0.21194	0.64	0.80722	D	1	B	0.27166	0.17	B	0.24394	0.053	T	0.60551	-0.7241	10	0.12103	T	0.63	-9.0073	9.9309	0.41521	0.2746:0.0:0.7254:0.0	.	207	Q96PU4	UHRF2_HUMAN	I	207	ENSP00000276893:V207I	ENSP00000276893:V207I	V	+	1	0	UHRF2	6424148	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.240000	0.43088	0.749000	0.32854	-0.225000	0.12378	GTT	UHRF2	-	pfam_DUF3590		0.338	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	G	NM_152306		6434148	1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6434148	G	A	6434148	3	1	91	1	0	0	0	0	1	0	0	0	17001	1145	40	2	629	2	UHRF2	9	6434148	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		6434148	134779283	40	13157										
CNTLN	54875	genome.wustl.edu	37	chr9	17487056	17487056	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tgtacattcagaaacttcttGaaggacaggtatttcatttt	7	6	3	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr9:17487056G>A	ENST00000380647.3	+	25	4195	c.4111G>A	c.(4111-4113)Gaa>Aaa	p.E1371K	CNTLN_ENST00000425824.1_Missense_Mutation_p.E1371K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E1371K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1371					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAACTTCTTGAAGGACAGGT	0.294																																																	0													82	79	80					9																	17487056		1808	4062	5870	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4111G>A	9.37:g.17487056G>A	ENSP00000370021:p.Glu1371Lys		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1371K	ENST00000380647.3	37	c.4111	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171049	0.57584	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18810	2.19;2.19;2.45	6.11	4.27	0.50696	.	.	.	.	.	T	0.23806	0.0576	M	0.66939	2.045	0.39797	D	0.972515	P;P;P	0.41524	0.753;0.753;0.753	B;B;B	0.37091	0.241;0.241;0.241	T	0.07539	-1.0767	9	0.72032	D	0.01	.	12.4316	0.55577	0.0638:0.1189:0.8173:0.0	.	1371;1371;1371	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	1371	ENSP00000370021:E1371K;ENSP00000392798:E1371K;ENSP00000262360:E1371K	ENSP00000262360:E1371K	E	+	1	0	CNTLN	17477056	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.195000	0.51013	0.896000	0.36366	0.655000	0.94253	GAA	CNTLN	-	NULL		0.294	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17487056	1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.999	A	A	17487056	G	A	17487056	3	1	91	1	0	0	0	0	1	0	0	0	3644	1291	45	1	4239	1	CNTLN	9	17487056	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	11052908	17487056	123726375	41	13158										
PTCHD3	374308	genome.wustl.edu	37	chr10	27702730	27702730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aggaagccggtgcccagcgcGgctgtcagcatcaagggcgc	16	13	2	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:27702730G>T	ENST00000438700.3	-	1	567	c.450C>A	c.(448-450)gcC>gcA	p.A150A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	150					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGCCCAGCGCGGCTGTCAGCA	0.672																																																	0													56	65	62					10																	27702730		2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.450C>A	10.37:g.27702730G>T			I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.A150	ENST00000438700.3	37	c.450	CCDS31173.1	10																																																																																			PTCHD3	-	NULL		0.672	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	G	XM_370541		27702730	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	silent	SNP	0.000	T	T	27702730	G	T	27702730	2	4	91	1	0	0	0	0	0	0	0	1	12761	1103	39	2		2	PTCHD3	10	27702730	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		27702730	107832017	42	13159										
WAC	51322	genome.wustl.edu	37	chr10	28900809	28900809	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	caaactaacacagtccctatCaaacctttgatcagtactcc	3	14	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:28900809C>T	ENST00000354911.4	+	10	1556	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	WAC_ENST00000347934.4_Silent_p.I362I|WAC_ENST00000375646.1_Silent_p.I313I|WAC_ENST00000375664.4_Silent_p.I420I	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	465					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.I465M(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CAGTCCCTATCAAACCTTTGA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											157	130	139					10																	28900809		2203	4300	6503	SO:0001819	synonymous_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1395C>T	10.37:g.28900809C>T			A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.I465	ENST00000354911.4	37	c.1395	CCDS7159.1	10																																																																																			WAC	-	NULL		0.403	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	C	NM_100264		28900809	1	no_errors	ENST00000354911	ensembl	human	known	70_37	silent	SNP	0.999	T	T	28900809	C	T	28900809	2	4	91	1	0	0	0	0	0	0	0	1	17278	816	29	1		1	WAC	10	28900809	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	1198079	28900809	106633938	43	13160										
PPYR1	5540	genome.wustl.edu	37	chr10	47087829	47087829	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gagcgcccccctggaggagtCggagcatctgcccctgtcca	13	16	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:47087829C>G	ENST00000395716.1	+	2	1131	c.1046C>G	c.(1045-1047)tCg>tGg	p.S349W	NPY4R_ENST00000374312.1_Missense_Mutation_p.S349W			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	349					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CTGGAGGAGTCGGAGCATCTG	0.547																																																	0													122	122	122					10																	47087829		2203	4300	6503	SO:0001583	missense	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1046C>G	10.37:g.47087829C>G	ENSP00000379066:p.Ser349Trp		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S349W	ENST00000395716.1	37	c.1046	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601192	0.13939	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.39997	1.05;1.05	4.96	-0.886	0.10590	.	1.476590	0.03808	N	0.265505	T	0.43919	0.1269	L	0.51422	1.61	0.09310	N	0.999999	P	0.46706	0.883	P	0.47673	0.554	T	0.37957	-0.9683	10	0.56958	D	0.05	.	5.9021	0.18972	0.4211:0.4055:0.0:0.1733	.	349	P50391	NPY4R_HUMAN	W	349	ENSP00000363431:S349W;ENSP00000379066:S349W	ENSP00000363431:S349W	S	+	2	0	PPYR1	46507835	0.901000	0.30685	0.015000	0.15790	0.018000	0.09664	1.923000	0.40055	-0.261000	0.09405	-0.940000	0.02684	TCG	PPYR1	-	prints_NPY4_rcpt		0.547	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	C			47087829	1	no_errors	ENST00000374312	ensembl	human	known	70_37	missense	SNP	0.047	G	G	47087829	C	G	47087829	3	3	91	1	0	0	0	0	1	0	0	0	12443	893	31	1	1048	1	PPYR1	10	47087829	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	18187020	47087829	88446918	44	13161										
DDX21	9188	genome.wustl.edu	37	chr10	70719876	70719876	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cctaagcccaagaagatgaaGaaagaaaaggaaatgaatgg	11	5	0	6			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:70719876G>A	ENST00000354185.4	+	2	500	c.402G>A	c.(400-402)aaG>aaA	p.K134K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	134					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAGATGAAGAAAGAAAAGG	0.408																																																	0													35	39	38					10																	70719876		2202	4300	6502	SO:0001819	synonymous_variant	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.402G>A	10.37:g.70719876G>A			B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K134	ENST00000354185.4	37	c.402	CCDS31211.1	10																																																																																			DDX21	-	NULL		0.408	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	G	NM_004728		70719876	1	no_errors	ENST00000354185	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70719876	G	A	70719876	2	1	91	1	0	0	0	0	0	0	0	1	4354	933	33	1		1	DDX21	10	70719876	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	23632047	70719876	64814871	45	13162										
CYP26A1	1592	genome.wustl.edu	37	chr10	94834932	94834932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aaggcgcggaacctcattcaCgcgcgcatcgagcagaacat	11	13	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:94834932C>T	ENST00000224356.4	+	4	777	c.732C>T	c.(730-732)caC>caT	p.H244H	CYP26A1_ENST00000371531.1_Silent_p.H175H|CYP26A1_ENST00000394139.1_Silent_p.H175H	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	244					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ACCTCATTCACGCGCGCATCG	0.687																																																	0													29	31	30					10																	94834932		2202	4297	6499	SO:0001819	synonymous_variant	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.732C>T	10.37:g.94834932C>T			B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.H244	ENST00000224356.4	37	c.732	CCDS7426.1	10																																																																																			CYP26A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.687	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	HGNC	protein_coding	OTTHUMT00000049408.3	C			94834932	1	no_errors	ENST00000224356	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94834932	C	T	94834932	2	4	91	1	0	0	0	0	0	0	0	1	4160	535	19	2		2	CYP26A1	10	94834932	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	24115056	94834932	40699815	46	13163										
RRP12	23223	genome.wustl.edu	37	chr10	99129987	99129987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gctgaccatggtcaccgcgcCcaccaggccagggtagatca	12	15	2	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:99129987C>A	ENST00000370992.4	-	24	2845	c.2734G>T	c.(2734-2736)Ggc>Tgc	p.G912C	RRP12_ENST00000315563.6_Missense_Mutation_p.G812C|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.G630C|RRP12_ENST00000414986.1_Missense_Mutation_p.G851C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	912						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTCACCGCGCCCACCAGGCCA	0.592																																																	0													30	28	29					10																	99129987		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2734G>T	10.37:g.99129987C>A	ENSP00000360031:p.Gly912Cys		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.G912C	ENST00000370992.4	37	c.2734	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081378	0.76528	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.993	D	0.85850	0.1403	10	0.87932	D	0	-25.5587	12.8535	0.57871	0.0:0.9213:0.0:0.0787	.	851;812;630;912	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	C	912;812;851;630	ENSP00000360031:G912C;ENSP00000324315:G812C;ENSP00000414863:G851C;ENSP00000446184:G630C	ENSP00000324315:G812C	G	-	1	0	RRP12	99119977	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	5.531000	0.67148	2.357000	0.79964	0.462000	0.41574	GGC	RRP12	-	superfamily_ARM-type_fold		0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99129987	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99129987	C	A	99129987	3	1	91	1	0	0	0	0	1	0	0	0	13716	623	22	4	1203	4	RRP12	10	99129987	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	4295055	99129987	36404760	47	13164										
MUC2	4583	genome.wustl.edu	37	chr11	1090951	1090952	+	In_Frame_Ins	INS	-	-	ACC													0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cccccaccaccttcaccactINSaccaccaccaccaccacccc					rs72655327|rs72655328		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:1090951_1090952insACC	ENST00000441003.2	+	28	3873_3874	c.3846_3847insACC	c.(3847-3849)acc>ACCacc	p.1283_1283T>TT	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Ins_p.1284_1284T>TT	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1283					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccttcaccactaccaccaccac	0.614																																																	0																																										SO:0001652	inframe_insertion	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3862_3864dupACC	11.37:g.1090958_1090960dupACC	ENSP00000415183:p.Thr1288dup		Q14878	In_Frame_Ins	INS	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.1286in_frame_insT	ENST00000441003.2	37	c.3846_3847		11																																																																																			MUC2	-	NULL		0.614	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	NM_002457		1090952	1	no_errors	ENST00000441003	ensembl	human	known	70_37	in_frame_ins	INS	0.000:0.000	ACC	ACC	1090952	-	ACC	1090951	7	5	91	1	0	1	1	0	0	0	0	0	9998	1509	53	0	3956	0	MUC2	11	1090951	In_Frame_Ins	INS	-	TCGA-EA-A6QX-01A-12D-A33O-09		1090951	133915565	48	13165										
OR5AR1	219493	genome.wustl.edu	37	chr11	56432011	56432011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tctacacggttatcatccccAtgttaaatcccttgatctac	4	13	3	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:56432011A>G	ENST00000302969.2	+	1	874	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M284L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATCATCCCCATGTTAAATCC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											68	66	66					11																	56432011		2201	4296	6497	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.850A>G	11.37:g.56432011A>G	ENSP00000302639:p.Met284Val		Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M284V	ENST00000302969.2	37	c.850	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792587	0.31685	.	.	ENSG00000172459	ENST00000302969	T	0.36878	1.23	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.34193	0.0889	M	0.71206	2.165	0.09310	N	1	B	0.26744	0.158	B	0.20767	0.031	T	0.40175	-0.9577	10	0.66056	D	0.02	.	6.4353	0.21819	0.7589:0.1588:0.0823:0.0	.	284	Q8NGP9	O5AR1_HUMAN	V	284	ENSP00000302639:M284V	ENSP00000302639:M284V	M	+	1	0	OR5AR1	56188587	0.001000	0.12720	1.000000	0.80357	0.868000	0.49771	0.510000	0.22723	2.128000	0.65567	0.467000	0.42956	ATG	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.408	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	A	NM_001004730		56432011	1	no_errors	ENST00000302969	ensembl	human	known	70_37	missense	SNP	0.124	G	G	56432011	A	G	56432011	3	3	91	1	0	0	0	0	1	0	0	0	11169	217	8	5	852	5	OR5AR1	11	56432011	Missense_Mutation	SNP	A	TCGA-EA-A6QX-01A-12D-A33O-09	55341060	56432011	78574505	49	13166										
OR4D6	219983	genome.wustl.edu	37	chr11	59225108	59225108	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	actgtcattctggtgatgctGagatcccactctggggaggg	14	9	3	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:59225108G>A	ENST00000300127.2	+	1	698	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGATGCTGAGATCCCACT	0.547																																																	0													127	110	116					11																	59225108		2201	4295	6496	SO:0001819	synonymous_variant	219983			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.675G>A	11.37:g.59225108G>A			B2RNP7|Q6IFF5|Q96R74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L225	ENST00000300127.2	37	c.675	CCDS31562.1	11																																																																																			OR4D6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	G	NM_001004708		59225108	1	no_errors	ENST00000300127	ensembl	human	known	70_37	silent	SNP	0.007	A	A	59225108	G	A	59225108	2	1	91	1	0	0	0	0	0	0	0	1	11082	1277	45	1		1	OR4D6	11	59225108	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	2793097	59225108	75781408	50	13167										
NAA40	79829	genome.wustl.edu	37	chr11	63721865	63721865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gttgctgtggggaggattgcTcctatgagatcctgagccgg	16	8	0	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:63721865T>C	ENST00000377793.4	+	8	729	c.628T>C	c.(628-630)Tcc>Ccc	p.S210P	NAA40_ENST00000456907.2_Missense_Mutation_p.S170P|NAA40_ENST00000542163.1_Missense_Mutation_p.S189P|NAA40_ENST00000539656.1_Missense_Mutation_p.S97P	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	210	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGAGGATTGCTCCTATGAGAT	0.582																																																	0													68	61	64					11																	63721865		2201	4297	6498	SO:0001583	missense	79829			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.628T>C	11.37:g.63721865T>C	ENSP00000367024:p.Ser210Pro		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S210P	ENST00000377793.4	37	c.628	CCDS8053.1	11	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462378	0.43736	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.95	2.51	0.30379	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.053994	0.85682	D	0.000000	T	0.23886	0.0578	L	0.27053	0.805	0.51012	D	0.999908	B;P	0.44578	0.0;0.838	B;B	0.35413	0.0;0.202	T	0.03493	-1.1031	9	0.30078	T	0.28	-2.9198	2.8208	0.05470	0.1425:0.0815:0.1478:0.6281	.	170;210	B4DU10;Q86UY6	.;NAA40_HUMAN	P	210;170;97;189	.	ENSP00000367024:S210P	S	+	1	0	NAA40	63478441	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.592000	0.61027	0.919000	0.36945	0.454000	0.30748	TCC	NAA40	-	pfscan_GNAT_dom		0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA40	HGNC	protein_coding	OTTHUMT00000396266.1	T	NM_024771		63721865	1	no_errors	ENST00000377793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63721865	T	C	63721865	3	2	91	1	0	0	0	0	1	0	0	0	10148	1551	54	5	658	5	NAA40	11	63721865	Missense_Mutation	SNP	T	TCGA-EA-A6QX-01A-12D-A33O-09	4496757	63721865	71284651	51	13168										
KLC2	64837	genome.wustl.edu	37	chr11	66029354	66029354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agcagaagctgcagcgcagtGagcaggccgtggcccagctc	15	13	0	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:66029354G>C	ENST00000417856.1	+	3	613	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.E124Q|KLC2_ENST00000394066.2_Intron|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394078.1_Missense_Mutation_p.E124Q|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000316924.5_Missense_Mutation_p.E124Q|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGCGCAGTGAGCAGGCCGT	0.627																																																	0													70	62	65					11																	66029354		2200	4295	6495	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.370G>C	11.37:g.66029354G>C	ENSP00000399403:p.Glu124Gln		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E124Q	ENST00000417856.1	37	c.370	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744300	0.89663	.	.	ENSG00000174996	ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757	T;T;D;T;T;T;D	0.87650	0.67;0.67;-2.28;0.67;0.67;0.67;-2.28	4.15	4.15	0.48705	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000002	D	0.93252	0.7850	M	0.82323	2.585	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.83275	0.996;0.903	D	0.93178	0.6572	10	0.41790	T	0.15	-27.2308	15.3609	0.74472	0.0:0.0:1.0:0.0	.	124;124	A8MX29;Q9H0B6	.;KLC2_HUMAN	Q	124	ENSP00000399403:E124Q;ENSP00000437026:E124Q;ENSP00000396952:E124Q;ENSP00000377631:E124Q;ENSP00000314837:E124Q;ENSP00000377641:E124Q;ENSP00000431253:E124Q	ENSP00000314837:E124Q	E	+	1	0	KLC2	65785930	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.513000	0.98010	2.140000	0.66376	0.561000	0.74099	GAG	KLC2	-	pfam_Rabaptin_Rab5-bd_dom		0.627	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66029354	1	no_errors	ENST00000316924	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66029354	G	C	66029354	3	2	91	1	0	0	0	0	1	0	0	0	8354	1291	45	1	376	1	KLC2	11	66029354	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	2307489	66029354	68977162	52	13169										
UCP2	7351	genome.wustl.edu	37	chr11	73689365	73689365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cgatgcaggcagctgtgccaGccccaagaaacttcacagtg	11	13	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:73689365G>T	ENST00000310473.3	-	3	901	c.59C>A	c.(58-60)gCt>gAt	p.A20D	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.A20D	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	20					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					AGCTGTGCCAGCCCCAAGAAA	0.532																																					Colon(191;388 2040 43557 45622 48925)												0													76	74	75					11																	73689365		2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.59C>A	11.37:g.73689365G>T	ENSP00000312029:p.Ala20Asp		Q4PJH8|Q53HM3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A20D	ENST00000310473.3	37	c.59	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934219	0.92458	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000539764	T;T;T	0.80653	-1.4;-1.4;-1.28	6.07	5.15	0.70609	Mitochondrial carrier domain (2);	0.046546	0.85682	D	0.000000	D	0.92077	0.7489	M	0.94142	3.5	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.992	D	0.93478	0.6825	10	0.87932	D	0	-9.1903	14.564	0.68162	0.0718:0.0:0.9282:0.0	.	20;20	F5GX45;P55851	.;UCP2_HUMAN	D	20	ENSP00000312029:A20D;ENSP00000441147:A20D;ENSP00000438230:A20D	ENSP00000312029:A20D	A	-	2	0	UCP2	73367013	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.928000	0.87587	2.884000	0.98904	0.655000	0.94253	GCT	UCP2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.532	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	G	NM_003355		73689365	-1	no_errors	ENST00000310473	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73689365	G	T	73689365	3	4	91	1	0	0	0	0	1	0	0	0	16962	971	34	4	894	4	UCP2	11	73689365	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	7660011	73689365	61317151	53	13170										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103116084	103116084	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gttctttatccattattgagAcgagatctggttgctcaagg	10	7	3	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:103116084A>G	ENST00000375735.2	+	65	10167	c.10023A>G	c.(10021-10023)agA>agG	p.R3341R	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.R3348R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3341	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTATTGAGACGAGATCTGG	0.343																																																	0													69	64	65					11																	103116084		1815	4070	5885	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10023A>G	11.37:g.103116084A>G			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3348	ENST00000375735.2	37	c.10044	CCDS53701.1	11																																																																																			DYNC2H1	-	NULL		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	A	XM_370652		103116084	1	no_errors	ENST00000398093	ensembl	human	known	70_37	silent	SNP	1.000	G	G	103116084	A	G	103116084	2	3	91	1	0	0	0	0	0	0	0	1	4856	272	10	5		5	DYNC2H1	11	103116084	Silent	SNP	A	TCGA-EA-A6QX-01A-12D-A33O-09	29426719	103116084	31890432	54	13171										
DSCAML1	57453	genome.wustl.edu	37	chr11	117667944	117667944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gctcggctgcggcggcggctCctccctcctcggctccccgg	14	20	0	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:117667944C>T	ENST00000321322.6	-	1	32	c.31G>A	c.(31-33)Gag>Aag	p.E11K	DSCAML1_ENST00000527706.1_5'Flank	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCGGCGGCTCCTCCCTCCTC	0.806																																																	0													4	5	5					11																	117667944		1536	3052	4588	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.31G>A	11.37:g.117667944C>T	ENSP00000315465:p.Glu11Lys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E11K	ENST00000321322.6	37	c.31	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483763	0.84854	.	.	ENSG00000177103	ENST00000321322	T	0.59224	0.28	4.59	4.59	0.56863	.	.	.	.	.	T	0.61763	0.2373	.	.	.	0.32004	N	0.602995	.	.	.	.	.	.	T	0.66972	-0.5788	5	.	.	.	.	14.4867	0.67622	0.0:1.0:0.0:0.0	.	.	.	.	K	11	ENSP00000315465:E11K	.	E	-	1	0	DSCAML1	117173154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.545000	0.45769	2.252000	0.74401	0.462000	0.41574	GAG	DSCAML1	-	NULL		0.806	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117667944	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117667944	C	T	117667944	3	4	91	1	0	0	0	0	1	0	0	0	4779	864	30	1	6442	1	DSCAML1	11	117667944	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	14551860	117667944	17338572	55	13172										
CCDC153	283152	genome.wustl.edu	37	chr11	119061433	119061433	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gcttacgtgtaagatttcctCatacttcgcctccatgtctg	7	12	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:119061433C>T	ENST00000503566.2	-	5	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E156K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	156										lung(3)|stomach(1)	4						AAGATTTCCTCATACTTCGCC	0.607																																																	0													78	74	75					11																	119061433		2200	4295	6495	SO:0001583	missense	283152				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.466G>A	11.37:g.119061433C>T	ENSP00000423567:p.Glu156Lys			Missense_Mutation	SNP	superfamily_t-SNARE	p.E156K	ENST00000503566.2	37	c.466	CCDS44753.1	11	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883034	0.51908	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.30981	1.51;1.51	4.52	2.61	0.31194	.	0.159432	0.42821	N	0.000651	T	0.30230	0.0758	M	0.78637	2.42	0.37908	D	0.931263	B	0.30709	0.291	B	0.26693	0.072	T	0.23583	-1.0184	10	0.72032	D	0.01	-5.3104	6.1067	0.20077	0.0:0.7059:0.1912:0.1029	.	156	Q494R4	CC153_HUMAN	K	156	ENSP00000423567:E156K;ENSP00000445431:E156K	ENSP00000445431:E156K	E	-	1	0	CCDC153	118566643	0.956000	0.32656	0.903000	0.35520	0.907000	0.53573	1.932000	0.40143	0.635000	0.30488	0.655000	0.94253	GAG	CCDC153	-	superfamily_t-SNARE		0.607	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC153	HGNC	protein_coding	OTTHUMT00000388331.2	C	NM_001033658		119061433	-1	no_errors	ENST00000415318	ensembl	human	known	70_37	missense	SNP	0.952	T	T	119061433	C	T	119061433	3	4	91	1	0	0	0	0	1	0	0	0	2792	835	29	1	174	1	CCDC153	11	119061433	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	1393489	119061433	15945083	56	13173										
MLL2	8085	genome.wustl.edu	37	chr12	49420007	49420007	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gaccaggtcctccaggccctGctcgatgactttgattacaa	9	13	0	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:49420007G>A	ENST00000301067.7	-	48	15741	c.15742C>T	c.(15742-15744)Cag>Tag	p.Q5248*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5248	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCAGGCCCTGCTCGATGACT	0.542																																																	0													68	72	70					12																	49420007		1927	4130	6057	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15742C>T	12.37:g.49420007G>A	ENSP00000301067:p.Gln5248*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q5248*	ENST00000301067.7	37	c.15742	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	56	25.485979	0.99965	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.11	5.11	0.69529	.	0.000000	0.34879	N	0.003619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.2524	0.49034	0.086:0.0:0.914:0.0	.	.	.	.	X	5248	.	ENSP00000301067:Q5248X	Q	-	1	0	MLL2	47706274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.061000	0.89467	2.560000	0.86352	0.650000	0.86243	CAG	MLL2	-	pfam_FYrich_C,smart_FYrich_C		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49420007	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49420007	G	A	49420007	4	1	91	1	0	0	0	0	0	1	0	0	9644	1328	46	4	899	4	MLL2	12	49420007	Nonsense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		49420007	84431888	57	13174										
AQP5	362	genome.wustl.edu	37	chr12	50356026	50356026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	accccgccatcaccctggccCtcttggtgggcaaccagatc	9	18	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:50356026C>T	ENST00000293599.6	+	1	374	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	76					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CACCCTGGCCCTCTTGGTGGG	0.692																																																	0													41	40	41					12																	50356026		2203	4299	6502	SO:0001583	missense	362			U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.226C>T	12.37:g.50356026C>T	ENSP00000293599:p.Leu76Phe		Q6FGW8	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.L76F	ENST00000293599.6	37	c.226	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019427	0.08006	.	.	ENSG00000161798	ENST00000293599	D	0.93712	-3.27	3.49	2.59	0.31030	Aquaporin-like (2);	0.251703	0.27080	N	0.021038	T	0.79592	0.4472	N	0.04116	-0.275	0.30632	N	0.757433	B	0.23377	0.084	B	0.23275	0.045	T	0.69942	-0.5008	10	0.09590	T	0.72	-11.8303	5.7605	0.18196	0.0:0.7528:0.0:0.2472	.	76	P55064	AQP5_HUMAN	F	76	ENSP00000293599:L76F	ENSP00000293599:L76F	L	+	1	0	AQP5	48642293	0.632000	0.27172	0.934000	0.37439	0.969000	0.65631	0.544000	0.23253	0.821000	0.34540	0.462000	0.41574	CTC	AQP5	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.692	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	HGNC	protein_coding	OTTHUMT00000405542.2	C	NM_001651		50356026	1	no_errors	ENST00000293599	ensembl	human	known	70_37	missense	SNP	0.870	T	T	50356026	C	T	50356026	3	4	91	1	0	0	0	0	1	0	0	0	829	681	24	4	228	4	AQP5	12	50356026	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	936019	50356026	83495869	58	13175										
KRT84	3890	genome.wustl.edu	37	chr12	52778996	52778996	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ggactccaacccctccaactCtgtaaccaaagccagggcca	7	17	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:52778996C>T	ENST00000257951.3	-	1	440	c.374G>A	c.(373-375)aGa>aAa	p.R125K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	125	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCTCCAACTCTGTAACCAAA	0.582																																																	0													168	163	165					12																	52778996		2203	4300	6503	SO:0001583	missense	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.374G>A	12.37:g.52778996C>T	ENSP00000257951:p.Arg125Lys		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R125K	ENST00000257951.3	37	c.374	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419386	0.62622	.	.	ENSG00000161849	ENST00000257951	T	0.75154	-0.91	5.15	4.25	0.50352	.	0.000000	0.52532	D	0.000072	T	0.56934	0.2019	N	0.19112	0.55	0.26282	N	0.978254	B	0.26318	0.146	B	0.24974	0.057	T	0.47195	-0.9136	10	0.28530	T	0.3	.	9.5556	0.39337	0.0:0.8372:0.0:0.1628	.	125	Q9NSB2	KRT84_HUMAN	K	125	ENSP00000257951:R125K	ENSP00000257951:R125K	R	-	2	0	KRT84	51065263	0.399000	0.25287	0.871000	0.34182	0.792000	0.44763	4.120000	0.57897	1.539000	0.49286	0.609000	0.83330	AGA	KRT84	-	NULL		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	C	NM_033045		52778996	-1	no_errors	ENST00000257951	ensembl	human	known	70_37	missense	SNP	0.892	T	T	52778996	C	T	52778996	3	4	91	1	0	0	0	0	1	0	0	0	8518	913	32	1	1464	1	KRT84	12	52778996	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	2422970	52778996	81072899	59	13176										
INHBE	83729	genome.wustl.edu	37	chr12	57850050	57850050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gccaagggtcccgcactctcCtggctgagcaccacatcacc	9	18	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:57850050C>A	ENST00000266646.2	+	2	688	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	158					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGCACTCTCCTGGCTGAGCA	0.597											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0													189	177	181					12																	57850050		2203	4300	6503	SO:0001583	missense	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.472C>A	12.37:g.57850050C>A	ENSP00000266646:p.Leu158Met	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.L158M	ENST00000266646.2	37	c.472	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318388	0.23994	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.82167	-1.58;-1.12	4.61	2.79	0.32731	Transforming growth factor-beta, N-terminal (1);	1.194590	0.05898	N	0.629568	D	0.83243	0.5212	L	0.52011	1.625	0.30870	N	0.732524	P	0.46706	0.883	P	0.49887	0.625	T	0.72187	-0.4366	10	0.36615	T	0.2	-3.9508	7.1416	0.25558	0.0:0.7986:0.0:0.2014	.	158	P58166	INHBE_HUMAN	M	103;158	ENSP00000450212:L103M;ENSP00000266646:L158M	ENSP00000266646:L158M	L	+	1	2	INHBE	56136317	0.999000	0.42202	0.860000	0.33809	0.142000	0.21351	1.446000	0.35090	0.687000	0.31509	-0.122000	0.15005	CTG	INHBE	-	pfam_TGF-b_N		0.597	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	C	NM_031479		57850050	1	no_errors	ENST00000266646	ensembl	human	known	70_37	missense	SNP	0.977	A	A	57850050	C	A	57850050	3	1	91	1	0	0	0	0	1	0	0	0	7764	680	24	4	478	4	INHBE	12	57850050	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	5071054	57850050	76001845	60	13177										
SLC17A8	246213	genome.wustl.edu	37	chr12	100787237	100787237	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tacggatgcgtcatgtgtgtCagaattctgcaaggtttagt	12	6	3	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:100787237C>T	ENST00000323346.5	+	4	877	c.564C>T	c.(562-564)gtC>gtT	p.V188V	SLC17A8_ENST00000392989.3_Silent_p.V188V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	188					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCATGTGTGTCAGAATTCTGC	0.453																																																	0													201	174	183					12																	100787237		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.564C>T	12.37:g.100787237C>T			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V188	ENST00000323346.5	37	c.564	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100787237	1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	0.397	T	T	100787237	C	T	100787237	2	4	91	1	0	0	0	0	0	0	0	1	14453	813	29	1		1	SLC17A8	12	100787237	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	42937187	100787237	33064658	61	13178										
ATXN2	6311	genome.wustl.edu	37	chr12	111908476	111908476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gtggctgcaatcggtgggccCgctgctgacgctgggtgcat	17	11	0	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:111908476C>T	ENST00000377617.3	-	19	3230	c.3069G>A	c.(3067-3069)gcG>gcA	p.A1023A	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Silent_p.A760A|ATXN2_ENST00000542287.2_Silent_p.A758A|ATXN2_ENST00000535949.1_Silent_p.A734A|ATXN2_ENST00000608853.1_Silent_p.A863A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1023	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TCGGTGGGCCCGCTGCTGACG	0.537																																																	0													129	119	122					12																	111908476		2203	4300	6503	SO:0001819	synonymous_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3069G>A	12.37:g.111908476C>T			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.A1023	ENST00000377617.3	37	c.3069	CCDS31902.1	12																																																																																			ATXN2	-	NULL		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	C	NM_002973		111908476	-1	no_errors	ENST00000377617	ensembl	human	known	70_37	silent	SNP	0.964	T	T	111908476	C	T	111908476	2	4	91	1	0	0	0	0	0	0	0	1	1212	639	23	2		2	ATXN2	12	111908476	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	11121239	111908476	21943419	62	13179										
NBEA	26960	genome.wustl.edu	37	chr13	35692417	35692417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tatattaaattacctacttaCgatgcatgaggtaggacatg	8	6	0	1	rs371995725		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr13:35692417C>T	ENST00000400445.3	+	15	2669	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	NBEA_ENST00000540320.1_Missense_Mutation_p.T712M|NBEA_ENST00000379939.2_Missense_Mutation_p.T712M|NBEA_ENST00000310336.4_Missense_Mutation_p.T712M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	712					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACCTACTTACGATGCATGAG	0.274																																																	0								C	MET/THR	1,3583		0,1,1791	46	42	43		2135	4.3	1	13		43	0,8122		0,0,4061	no	missense	NBEA	NM_015678.4	81	0,1,5852	TT,TC,CC		0.0,0.0279,0.0085	probably-damaging	712/2947	35692417	1,11705	1792	4061	5853	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2135C>T	13.37:g.35692417C>T	ENSP00000383295:p.Thr712Met		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T712M	ENST00000400445.3	37	c.2135	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891986	0.72524	2.79E-4	0.0	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77895	-0.2417	10	0.72032	D	0.01	.	16.7133	0.85391	0.0:1.0:0.0:0.0	.	712	Q5T321	.	M	712	ENSP00000440951:T712M;ENSP00000383295:T712M;ENSP00000369271:T712M;ENSP00000308534:T712M	ENSP00000308534:T712M	T	+	2	0	NBEA	34590417	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.345000	0.79337	1.929000	0.55896	0.460000	0.39030	ACG	NBEA	-	superfamily_ARM-type_fold		0.274	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35692417	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35692417	C	T	35692417	3	4	91	1	0	0	0	0	1	0	0	0	10210	536	19	2	2193	2	NBEA	13	35692417	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		35692417	79477461	63	13180										
ATP7B	540	genome.wustl.edu	37	chr13	52511638	52511638	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aaggacgacgtcggctgcctCgatggccacatccgtgccgg	14	14	0	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr13:52511638C>A	ENST00000242839.4	-	18	4033	c.3877G>T	c.(3877-3879)Gag>Tag	p.E1293*	ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E863*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E1086*|ATP7B_ENST00000417240.2_Nonsense_Mutation_p.E504*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E1228*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E1182*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E1215*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1293					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCGGCTGCCTCGATGGCCACA	0.642									Wilson disease																																								0													54	63	60					13																	52511638		2129	4232	6361	SO:0001587	stop_gained	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3877G>T	13.37:g.52511638C>A	ENSP00000242839:p.Glu1293*		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.E1293*	ENST00000242839.4	37	c.3877	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.609936	0.97701	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.7939	18.2449	0.89982	0.0:1.0:0.0:0.0	.	.	.	.	X	1293;1182;1086;504;1215;863;1228	.	ENSP00000242839:E1293X	E	-	1	0	ATP7B	51409639	1.000000	0.71417	0.999000	0.59377	0.306000	0.27790	7.562000	0.82300	2.606000	0.88127	0.591000	0.81541	GAG	ATP7B	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr		0.642	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52511638	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52511638	C	A	52511638	4	1	91	1	0	0	0	0	0	1	0	0	1192	893	31	3	536	3	ATP7B	13	52511638	Nonsense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	16819221	52511638	62658240	64	13181										
ASB2	51676	genome.wustl.edu	37	chr14	94420704	94420704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agcccacctggccatagtatGcggcctcgtgcagcggcagc	13	15	0	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:94420704G>T	ENST00000315988.4	-	2	781	c.293C>A	c.(292-294)gCa>gAa	p.A98E	ASB2_ENST00000555019.1_Missense_Mutation_p.A146E|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	98					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCATAGTATGCGGCCTCGTG	0.607																																																	0													76	61	66					14																	94420704		2203	4300	6503	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.293C>A	14.37:g.94420704G>T	ENSP00000320675:p.Ala98Glu		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.A98E	ENST00000315988.4	37	c.293	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237020	0.79800	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062;ENST00000555287;ENST00000557613	T;T;T;T;T;T	0.75260	-0.37;-0.37;-0.37;-0.92;-0.37;-0.37	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.162995	0.53938	D	0.000054	D	0.91212	0.7231	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.93594	0.6924	10	0.87932	D	0	-0.8984	19.48	0.95005	0.0:0.0:1.0:0.0	.	114;146;98	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	E	146;114;98;44;44;44;64;111	ENSP00000451575:A146E;ENSP00000320675:A98E;ENSP00000450940:A44E;ENSP00000451694:A44E;ENSP00000451654:A64E;ENSP00000451355:A111E	ENSP00000320675:A98E	A	-	2	0	ASB2	93490457	1.000000	0.71417	0.988000	0.46212	0.258000	0.26162	9.504000	0.97986	2.606000	0.88127	0.655000	0.94253	GCA	ASB2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.607	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	G			94420704	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94420704	G	T	94420704	3	4	91	1	0	0	0	0	1	0	0	0	1024	1319	46	4	1498	4	ASB2	14	94420704	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		94420704	12928836	65	13182										
RTL1	388015	genome.wustl.edu	37	chr14	101350763	101350763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gggttgactgatgcttctttCatcctatcagatgctccact	8	11	3	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:101350763C>T	ENST00000534062.1	-	1	421	c.363G>A	c.(361-363)atG>atA	p.M121I	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	121					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ATGCTTCTTTCATCCTATCAG	0.537																																																	0													100	82	88					14																	101350763		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.363G>A	14.37:g.101350763C>T	ENSP00000435342:p.Met121Ile		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.M121I	ENST00000534062.1	37	c.363	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973941	0.34848	.	.	ENSG00000254656	ENST00000534062	T	0.21932	1.98	3.54	2.63	0.31362	.	.	.	.	.	T	0.11879	0.0289	N	0.14661	0.345	0.09310	N	1	B	0.22003	0.063	B	0.14023	0.01	T	0.20174	-1.0283	9	0.52906	T	0.07	.	7.2276	0.26024	0.0:0.8755:0.0:0.1245	.	121	E9PKS8	.	I	121	ENSP00000435342:M121I	ENSP00000435342:M121I	M	-	3	0	RTL1	100420516	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	0.231000	0.17872	1.045000	0.40225	0.561000	0.74099	ATG	RTL1	-	NULL		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101350763	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.001	T	T	101350763	C	T	101350763	3	4	91	1	0	0	0	0	1	0	0	0	13754	826	29	1	3717	1	RTL1	14	101350763	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	6930059	101350763	5998777	66	13183										
AKT1	207	genome.wustl.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589|rs121434592		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	102	Substitution - Missense(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)											130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.E17K	ENST00000554581.1	37	c.49	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	C	NM_005163		105246551	-1	no_errors	ENST00000349310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105246551	C	T	105246551	3	4	91	1	0	0	0	0	1	0	0	0	478	864	30	1	1441	1	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	3895788	105246551	2102989	67	13184										
ATP8B4	79895	genome.wustl.edu	37	chr15	50264898	50264898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cctcattgagcgtggtcgttCgagccactgcaggtattgct	12	11	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr15:50264898C>T	ENST00000284509.6	-	13	1265	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R375Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	375						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CGTGGTCGTTCGAGCCACTGC	0.428																																																	0													80	72	75					15																	50264898		2196	4295	6491	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1124G>A	15.37:g.50264898C>T	ENSP00000284509:p.Arg375Gln		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R375Q	ENST00000284509.6	37	c.1124	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978645	0.74360	.	.	ENSG00000104043	ENST00000284509	D	0.91011	-2.77	4.88	3.96	0.45880	.	0.069919	0.64402	D	0.000020	D	0.94935	0.8362	M	0.88842	2.985	0.53005	D	0.999963	D	0.76494	0.999	D	0.63703	0.917	D	0.94894	0.8050	10	0.87932	D	0	.	10.9674	0.47421	0.0:0.9072:0.0:0.0928	.	375	Q8TF62	AT8B4_HUMAN	Q	375	ENSP00000284509:R375Q	ENSP00000284509:R375Q	R	-	2	0	ATP8B4	48052190	1.000000	0.71417	0.966000	0.40874	0.424000	0.31475	7.687000	0.84139	1.044000	0.40200	0.650000	0.86243	CGA	ATP8B4	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.428	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	C	NM_024837		50264898	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50264898	C	T	50264898	3	4	91	1	0	0	0	0	1	0	0	0	1198	884	31	1	2518	1	ATP8B4	15	50264898	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		50264898	52266494	68	13185										
KIF23	9493	genome.wustl.edu	37	chr15	69732248	69732248	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ggtctaccttcctagattgaGattttagagaaaacaactac	7	8	1	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr15:69732248G>A	ENST00000260363.4	+	16	1836	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	KIF23_ENST00000558585.1_Silent_p.E390E|KIF23_ENST00000559279.1_Silent_p.E573E|KIF23_ENST00000352331.4_Silent_p.E573E|KIF23_ENST00000537891.1_Silent_p.E390E|KIF23_ENST00000395392.2_Silent_p.E573E	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	573					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CCTAGATTGAGATTTTAGAGA	0.333																																																	0													54	51	52					15																	69732248		2199	4298	6497	SO:0001819	synonymous_variant	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1719G>A	15.37:g.69732248G>A			Q8WVP0	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E573	ENST00000260363.4	37	c.1719	CCDS32278.1	15																																																																																			KIF23	-	NULL		0.333	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69732248	1	no_errors	ENST00000260363	ensembl	human	known	70_37	silent	SNP	0.999	A	A	69732248	G	A	69732248	2	1	91	1	0	0	0	0	0	0	0	1	8311	933	33	1		1	KIF23	15	69732248	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	19467350	69732248	32799144	69	13186										
RAB40C	57799	genome.wustl.edu	37	chr16	676096	676096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gtgctcatgcggcacggcatGgagaagatctggaggcccaa	15	10	2	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:676096G>T	ENST00000248139.3	+	5	743	c.540G>T	c.(538-540)atG>atT	p.M180I	RAB40C_ENST00000538492.1_Missense_Mutation_p.M180I|RAB40C_ENST00000535977.1_Missense_Mutation_p.M180I|RAB40C_ENST00000539661.1_Missense_Mutation_p.M180I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	180	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCACGGCATGGAGAAGATCT	0.637																																					Melanoma(123;1631 1690 28262 44104 44957)												0													78	70	73					16																	676096		2201	4300	6501	SO:0001583	missense	57799			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.540G>T	16.37:g.676096G>T	ENSP00000248139:p.Met180Ile		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M180I	ENST00000248139.3	37	c.540	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346031	0.82022	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.22	5.22	0.72569	SOCS protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.47716	1.5	0.80722	D	1	B;B	0.23442	0.085;0.085	B;B	0.22601	0.022;0.04	T	0.71994	-0.4424	10	0.56958	D	0.05	.	17.7582	0.88456	0.0:0.0:1.0:0.0	.	180;161	Q96S21;Q5PXE8	RB40C_HUMAN;.	I	180	ENSP00000438492:M180I;ENSP00000445050:M180I;ENSP00000438382:M180I;ENSP00000248139:M180I	ENSP00000248139:M180I	M	+	3	0	RAB40C	616097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.747000	0.98863	2.438000	0.82558	0.561000	0.74099	ATG	RAB40C	-	smart_Ran_GTPase,pfscan_SOCS_C		0.637	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4	G	NM_021168		676096	1	no_errors	ENST00000248139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	676096	G	T	676096	3	4	91	1	0	0	0	0	1	0	0	0	12972	1348	47	4	558	4	RAB40C	16	676096	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		676096	89678657	70	13187										
TIGD7	91151	genome.wustl.edu	37	chr16	3349798	3349798	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aagttgaaaatgtcggacctCaggaacaaagttttgaaaaa	9	5	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:3349798C>T	ENST00000396862.1	-	2	2645	c.817G>A	c.(817-819)Gag>Aag	p.E273K	TIGD7_ENST00000268674.2_Missense_Mutation_p.E273K|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	273	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E273K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGTCGGACCTCaggaacaaag	0.408																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											74	78	77					16																	3349798		2197	4300	6497	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.817G>A	16.37:g.3349798C>T	ENSP00000380071:p.Glu273Lys		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E273K	ENST00000396862.1	37	c.817	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462936	0.63513	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.39997	1.05;1.05	4.62	4.62	0.57501	.	0.000000	0.42682	U	0.000677	T	0.55940	0.1952	M	0.62723	1.935	0.29381	N	0.863336	D	0.69078	0.997	D	0.79108	0.992	T	0.51387	-0.8712	10	0.10377	T	0.69	.	12.955	0.58421	0.0:1.0:0.0:0.0	.	273	Q6NT04	TIGD7_HUMAN	K	273	ENSP00000380071:E273K;ENSP00000268674:E273K	ENSP00000268674:E273K	E	-	1	0	TIGD7	3289799	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.188000	0.50958	2.116000	0.64780	0.655000	0.94253	GAG	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like		0.408	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349798	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3349798	C	T	3349798	3	4	91	1	0	0	0	0	1	0	0	0	15931	835	29	1	836	1	TIGD7	16	3349798	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	2673702	3349798	87004955	71	13188										
MTSS1L	92154	genome.wustl.edu	37	chr16	70697638	70697638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tcctgcggagccggaccccaCgccggatggccaccagcatg	13	17	0	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:70697638C>T	ENST00000338779.6	-	15	2460	c.2186G>A	c.(2185-2187)cGt>cAt	p.R729H	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	729	WH2.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCGGACCCCACGCCGGATGGC	0.721																																																	0													4	5	5					16																	70697638		2028	4031	6059	SO:0001583	missense	92154				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.2186G>A	16.37:g.70697638C>T	ENSP00000341171:p.Arg729His		A6NJI7|Q9BUA8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.R729H	ENST00000338779.6	37	c.2186	CCDS32476.1	16	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900248	0.92035	.	.	ENSG00000132613	ENST00000338779	T	0.52983	0.64	4.08	4.08	0.47627	.	0.000000	0.85682	U	0.000000	T	0.67221	0.2870	M	0.71206	2.165	0.40905	D	0.984189	D	0.89917	1.0	D	0.91635	0.999	T	0.73751	-0.3884	10	0.87932	D	0	-11.5948	15.0654	0.71989	0.0:1.0:0.0:0.0	.	729	Q765P7	MTSSL_HUMAN	H	729	ENSP00000341171:R729H	ENSP00000341171:R729H	R	-	2	0	MTSS1L	69255139	1.000000	0.71417	0.971000	0.41717	0.943000	0.58893	5.949000	0.70257	1.804000	0.52760	0.561000	0.74099	CGT	MTSS1L	-	NULL		0.721	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1L	HGNC	protein_coding	OTTHUMT00000434927.3	C	NM_138383		70697638	-1	no_errors	ENST00000338779	ensembl	human	known	70_37	missense	SNP	0.966	T	T	70697638	C	T	70697638	3	4	91	1	0	0	0	0	1	0	0	0	9986	536	19	2	61	2	MTSS1L	16	70697638	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	67347840	70697638	19657115	72	13189										
TAF1C	9013	genome.wustl.edu	37	chr16	84213391	84213391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agaagacatctcccgccgccGagagctggaagagcaccagg	13	13	1	4	rs371382879		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:84213391G>A	ENST00000567759.1	-	14	1948	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	TAF1C_ENST00000566732.1_Missense_Mutation_p.S563L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S589L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S495L|TAF1C_ENST00000541676.1_Missense_Mutation_p.S496L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S257L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	589					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCCGCCGCCGAGAGCTGGAA	0.667																																																	0								G	LEU/SER,LEU/SER	0,3902		0,0,1951	7	9	8		1766,1484	4.6	0.8	16		8	1,7671		0,1,3835	no	missense,missense	TAF1C	NM_005679.3,NM_139353.2	145,145	0,1,5786	AA,AG,GG		0.013,0.0,0.0086	probably-damaging,probably-damaging	589/870,495/776	84213391	1,11573	1951	3836	5787	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1766C>T	16.37:g.84213391G>A	ENSP00000455265:p.Ser589Leu		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S589L	ENST00000567759.1	37	c.1766	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338605	0.60963	0.0	1.3E-4	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.09350	3.28;2.99;2.99	4.61	4.61	0.57282	.	0.253026	0.26503	N	0.024003	T	0.31199	0.0789	M	0.70595	2.14	0.37835	D	0.928852	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.995;0.995;0.996;0.986	T	0.18429	-1.0337	10	0.87932	D	0	-9.82	12.9169	0.58211	0.0:0.0:1.0:0.0	.	563;112;589;495	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	589;496;495;112	ENSP00000367802:S589L;ENSP00000437900:S496L;ENSP00000345305:S495L	ENSP00000345305:S495L	S	-	2	0	TAF1C	82770892	1.000000	0.71417	0.834000	0.33040	0.092000	0.18411	5.917000	0.69989	2.103000	0.63969	0.462000	0.41574	TCG	TAF1C	-	NULL		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	G	NM_139353		84213391	-1	no_errors	ENST00000378541	ensembl	human	known	70_37	missense	SNP	0.975	A	A	84213391	G	A	84213391	3	1	91	1	0	0	0	0	1	0	0	0	15551	1059	37	1	847	1	TAF1C	16	84213391	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	13515753	84213391	6141362	73	13190										
UBTF	7343	genome.wustl.edu	37	chr17	42293273	42293273	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ctcctcctcctagtaactcaCcttgagttttttgcctttgt	5	13	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:42293273C>T	ENST00000302904.4	-	4	811		c.e4+1		UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000537550.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000527034.1_Splice_Site			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAGTAACTCACCTTGAGTTTT	0.458																																																	0													159	146	151					17																	42293273		2203	4300	6503	SO:0001630	splice_region_variant	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.318+1G>A	17.37:g.42293273C>T			A8K6R8	Splice_Site	SNP	-	e3+1	ENST00000302904.4	37	c.318+1	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591993	0.66219	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5834	0.87974	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBTF	39648799	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	7.755000	0.85180	2.309000	0.77851	0.563000	0.77884	.	UBTF	-	-		0.458	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	C	NM_014233	Intron	42293273	-1	no_errors	ENST00000302904	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	42293273	C	T	42293273	5	4	91	1	0	0	0	0	0	0	1	0	16940	521	18	4	2047	4	UBTF	17	42293273	Splice_Site	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		42293273	38901937	74	13191										
CCDC40	55036	genome.wustl.edu	37	chr17	78024013	78024013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gcgagcgcaggcagaaggagGaggagctgcaggccgcccgc	19	12	0	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:78024013G>C	ENST00000397545.4	+	7	1117	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.E364Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.E364Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E364Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	364					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGAAGGAGGAGGAGCTGCA	0.637																																																	0													13	17	16					17																	78024013		2127	4260	6387	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1090G>C	17.37:g.78024013G>C	ENSP00000380679:p.Glu364Gln		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E364Q	ENST00000397545.4	37	c.1090	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	10.38	1.332950	0.24167	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.50813	0.73;1.99;0.75;0.77	4.85	2.82	0.32997	.	.	.	.	.	T	0.44329	0.1288	L	0.49126	1.545	0.31000	N	0.72046	P;B;B	0.45126	0.851;0.177;0.27	B;B;B	0.43301	0.415;0.053;0.114	T	0.50372	-0.8836	9	0.62326	D	0.03	-14.8516	10.2141	0.43158	0.0748:0.1371:0.7882:0.0	.	364;364;147	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	Q	364	ENSP00000364011:E364Q;ENSP00000269318:E364Q;ENSP00000364010:E364Q;ENSP00000380679:E364Q	ENSP00000269318:E364Q	E	+	1	0	CCDC40	75638608	1.000000	0.71417	0.980000	0.43619	0.096000	0.18686	4.010000	0.57117	0.542000	0.28846	0.655000	0.94253	GAG	CCDC40	-	NULL		0.637	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	G	XM_371082		78024013	1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78024013	G	C	78024013	3	2	91	1	0	0	0	0	1	0	0	0	2817	1175	41	1	1116	1	CCDC40	17	78024013	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	35730740	78024013	3171197	75	13192										
SLC26A11	6448	genome.wustl.edu	37	chr17	78196495	78196495	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	atgggctgcttcgtgtatttCttcctgggcacctcccggga	12	12	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:78196495C>T	ENST00000326317.6	-	0	0				SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000411502.3_Silent_p.F92F|SLC26A11_ENST00000361193.3_Silent_p.F92F|SLC26A11_ENST00000546047.2_Silent_p.F92F|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Silent_p.F92F	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGTGTATTTCTTCCTGGGCA	0.612																																																	0													222	167	186					17																	78196495		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196495C>T	Exception_encountered		A8K5E2	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.F92	ENST00000326317.6	37	c.276	CCDS11770.1	17																																																																																			SLC26A11	-	NULL		0.612	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000437695.1	C	NM_000199		78196495	1	no_errors	ENST00000361193	ensembl	human	known	70_37	silent	SNP	1.000	T	T	78196495	C	T	78196495	1	4	91	0	1	0	0	0	0	0	0	0	14546	912	32	1		1	SLC26A11	17	78196495	5'Flank	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	172482	78196495	2998715	76	13193										
SLC26A11	6448	genome.wustl.edu	37	chr17	78196636	78196636	+	5'Flank	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	atccagctggccatgggggtCctgcgtttgggtgaggctct	16	10	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:78196636C>G	ENST00000326317.6	-	0	0				SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000411502.3_Silent_p.V139V|SLC26A11_ENST00000361193.3_Silent_p.V139V|SLC26A11_ENST00000546047.2_Silent_p.V139V|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Silent_p.V139V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCATGGGGGTCCTGCGTTTGG	0.582																																																	0													112	97	102					17																	78196636		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196636C>G	Exception_encountered		A8K5E2	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V139	ENST00000326317.6	37	c.417	CCDS11770.1	17																																																																																			SLC26A11	-	pfam_Sulph_transpt		0.582	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000437695.1	C	NM_000199		78196636	1	no_errors	ENST00000361193	ensembl	human	known	70_37	silent	SNP	1.000	G	G	78196636	C	G	78196636	1	3	91	0	1	0	0	0	0	0	0	0	14546	842	30	1		1	SLC26A11	17	78196636	5'Flank	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	141	78196636	2998574	77	13194										
WDR7	23335	genome.wustl.edu	37	chr18	54629743	54629743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cagtggccctgtacgacatcCggactggaaaatgtcaggta	12	10	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr18:54629743C>T	ENST00000254442.3	+	26	4358	c.4147C>T	c.(4147-4149)Cgg>Tgg	p.R1383W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1350W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1383					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTACGACATCCGGACTGGAAA	0.443																																																	0													93	83	86					18																	54629743		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4147C>T	18.37:g.54629743C>T	ENSP00000254442:p.Arg1383Trp		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1383W	ENST00000254442.3	37	c.4147	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810990	0.90707	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68331	-0.32;-0.32	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.83202	-0.0078	10	0.87932	D	0	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	1350;1383	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1383;1350;708;1350	ENSP00000254442:R1383W;ENSP00000350187:R1350W	ENSP00000254442:R1383W	R	+	1	2	WDR7	52780741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.491000	0.66887	2.677000	0.91161	0.655000	0.94253	CGG	WDR7	-	smart_WD40_repeat		0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	C			54629743	1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54629743	C	T	54629743	3	4	91	1	0	0	0	0	1	0	0	0	17351	643	23	2	4245	2	WDR7	18	54629743	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		54629743	23447505	78	13195										
ZBTB7A	51341	genome.wustl.edu	37	chr19	4054708	4054709	+	Frame_Shift_Ins	INS	-	-	G													0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gcagcggcggcggcggccgcINSggggggcaggctgttcatgg							TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:4054708_4054709insG	ENST00000322357.4	-	2	800_801	c.522_523insC	c.(520-525)cccgcgfs	p.A175fs	ZBTB7A_ENST00000601588.1_Frame_Shift_Ins_p.A175fs	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	175	Ala-rich.|Poly-Ala.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		gcggcggccgcggggggcAGGC	0.668																																																	0																																										SO:0001589	frameshift_variant	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.523dupC	19.37:g.4054714_4054714dupG	ENSP00000323670:p.Ala175fs		D6W619|O00456|Q14D41|Q5XG86	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A174fs	ENST00000322357.4	37	c.523_522	CCDS12119.1	19																																																																																			ZBTB7A	-	NULL		0.668	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	-	NM_015898		4054709	-1	no_errors	ENST00000322357	ensembl	human	known	70_37	frame_shift_ins	INS	0.522:0.571	G	G	4054709	-	G	4054708	7	5	91	1	0	1	1	0	0	0	0	0	17583	768	27	0	1239	0	ZBTB7A	19	4054708	Frame_Shift_Ins	INS	-	TCGA-EA-A6QX-01A-12D-A33O-09		4054708	55074275	79	13196										
PTPRS	5802	genome.wustl.edu	37	chr19	5265145	5265145	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	catggtggctgtccgtgtccGctccaccaccttcaactgtg	10	15	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:5265145G>T	ENST00000587303.1	-	4	541	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	PTPRS_ENST00000588012.1_Silent_p.R148R|PTPRS_ENST00000262963.6_Silent_p.R148R|PTPRS_ENST00000357368.4_Silent_p.R148R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Silent_p.R148R|PTPRS_ENST00000592099.1_Silent_p.R148R|PTPRS_ENST00000348075.2_Silent_p.R148R|PTPRS_ENST00000353284.2_Silent_p.R148R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	148	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCCGTGTCCGCTCCACCACC	0.597																																																	0													161	120	134					19																	5265145		2203	4300	6503	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.442C>A	19.37:g.5265145G>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.R148	ENST00000587303.1	37	c.442	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	G			5265145	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5265145	G	T	5265145	2	4	91	1	0	0	0	0	0	0	0	1	12841	1086	38	2		2	PTPRS	19	5265145	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	1210437	5265145	53863838	80	13197										
MCOLN1	57192	genome.wustl.edu	37	chr19	7595354	7595354	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	atggtgctcagcctcttcatCgcgctcatcaccggcgccta	9	16	5	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:7595354C>T	ENST00000264079.6	+	12	1667	c.1542C>T	c.(1540-1542)atC>atT	p.I514I		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	514					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTCTTCATCGCGCTCATCA	0.622																																																	0													214	201	206					19																	7595354		2203	4300	6503	SO:0001819	synonymous_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1542C>T	19.37:g.7595354C>T			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.I514	ENST00000264079.6	37	c.1542	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7595354	1	no_errors	ENST00000264079	ensembl	human	known	70_37	silent	SNP	0.988	T	T	7595354	C	T	7595354	2	4	91	1	0	0	0	0	0	0	0	1	9418	874	31	1		1	MCOLN1	19	7595354	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	2330209	7595354	51533629	81	13198										
FCHO1	23149	genome.wustl.edu	37	chr19	17885254	17885254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tcgccttccaggactaagccGgcgggagcgggagccagagc	16	13	0	1	rs530821806		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:17885254G>A	ENST00000596536.1	+	13	1170	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	FCHO1_ENST00000596951.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000595033.1_Missense_Mutation_p.R246Q|FCHO1_ENST00000539407.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000600676.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000389133.4_Missense_Mutation_p.R296Q|FCHO1_ENST00000594202.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000252771.7_Missense_Mutation_p.R296Q|FCHO1_ENST00000597512.1_Missense_Mutation_p.R303Q	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	296	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGACTAAGCCGGCGGGAGCGG	0.637													G|||	1	0.000199681	0	0	5008	,	,		17792	0.001		0	False		,,,				2504	0																0													42	45	44					19																	17885254		2203	4299	6502	SO:0001583	missense	23149			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.887G>A	19.37:g.17885254G>A	ENSP00000470731:p.Arg296Gln		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH	p.R296Q	ENST00000596536.1	37	c.887	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562176	0.86335	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.34859	1.34;1.34;1.34	5.09	5.09	0.68999	.	0.054916	0.64402	D	0.000001	T	0.46521	0.1397	L	0.40543	1.245	0.35966	D	0.834977	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.64237	0.716;0.839;0.923	T	0.49679	-0.8914	10	0.25751	T	0.34	-24.5549	13.9704	0.64237	0.0:0.0:1.0:0.0	.	246;296;296	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	Q	296	ENSP00000252771:R296Q;ENSP00000373785:R296Q;ENSP00000437978:R296Q	ENSP00000252771:R296Q	R	+	2	0	FCHO1	17746254	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.165000	0.58196	2.353000	0.79882	0.484000	0.47621	CGG	FCHO1	-	NULL		0.637	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	G	NM_015122		17885254	1	no_errors	ENST00000252771	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17885254	G	A	17885254	3	1	91	1	0	0	0	0	1	0	0	0	5805	1116	39	2	925	2	FCHO1	19	17885254	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	10289900	17885254	41243729	82	13199										
ACTN4	81	genome.wustl.edu	37	chr19	39219710	39219710	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cttgtgaccttccaagccttCatcgacttcatgtcgcggga	9	13	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:39219710C>T	ENST00000252699.2	+	20	2569	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ACTN4_ENST00000424234.2_Silent_p.F441F|ACTN4_ENST00000390009.3_Silent_p.F612F|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	831	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCAAGCCTTCATCGACTTCA	0.607																																					Colon(168;199 1940 10254 46213 46384)												0													128	102	111					19																	39219710		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2493C>T	19.37:g.39219710C>T			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.F831	ENST00000252699.2	37	c.2493	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	C			39219710	1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39219710	C	T	39219710	2	4	91	1	0	0	0	0	0	0	0	1	207	825	29	1		1	ACTN4	19	39219710	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	21334456	39219710	19909273	83	13200										
CEACAM1	634	genome.wustl.edu	37	chr19	43023356	43023356	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	actgtggtcttgctggctttGatttggggctttgctactac	12	8	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:43023356G>A	ENST00000161559.6	-	5	1124	c.990C>T	c.(988-990)atC>atT	p.I330I	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Silent_p.I330I|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000358394.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	330	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGCTGGCTTTGATTTGGGGCT	0.498																																																	0													205	183	191					19																	43023356		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.990C>T	19.37:g.43023356G>A			A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I330	ENST00000161559.6	37	c.990	CCDS12609.1	19																																																																																			CEACAM1	-	pfscan_Ig-like		0.498	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	G	NM_001712		43023356	-1	no_errors	ENST00000161559	ensembl	human	known	70_37	silent	SNP	0.013	A	A	43023356	G	A	43023356	2	1	91	1	0	0	0	0	0	0	0	1	3192	1280	45	1		1	CEACAM1	19	43023356	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	3803646	43023356	16105627	84	13201										
PVRL2	5819	genome.wustl.edu	37	chr19	45381604	45381604	+	Intron	SNP	G	G	A													0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	atcctgctgagggtgaggagGaggaggaagagccctggagg							TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:45381604G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Silent_p.R389R	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		gggtgaggaggaggaggaaga	0.652																																																	0													38	27	30					19																	45381604		2092	4118	6210	SO:0001627	intron_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3864G>A	19.37:g.45381604G>A			A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R389	ENST00000252483.5	37	c.1167	CCDS42576.1	19																																																																																			PVRL2	-	NULL		0.652	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	G	NM_002856		45381604	1	no_errors	ENST00000252485	ensembl	human	known	70_37	silent	SNP	0.999	A	A	45381604	G	A	45381604	1	1	91	0	1	0	0	0	0	0	0	0	12870	1165	41	1		1	PVRL2	19	45381604	Intron	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	2358248	45381604	13747379	85	13202	71	2								
PVRL2	5819	genome.wustl.edu	37	chr19	45381610	45381610	+	Intron	SNP	G	G	A													0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ctgagggtgaggaggaggagGaagagccctggaggagcagg							TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:45381610G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Silent_p.R391R	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ggaggaggaggaagagccctg	0.657																																																	0													42	30	34					19																	45381610		2106	4137	6243	SO:0001627	intron_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3858G>A	19.37:g.45381610G>A			A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R391	ENST00000252483.5	37	c.1173	CCDS42576.1	19																																																																																			PVRL2	-	NULL		0.657	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	G	NM_002856		45381610	1	no_errors	ENST00000252485	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45381610	G	A	45381610	1	1	91	0	1	0	0	0	0	0	0	0	12870	1165	41	1		1	PVRL2	19	45381610	Intron	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	6	45381610	13747373	86	13203	71	2								
CCDC114	93233	genome.wustl.edu	37	chr19	48814881	48814881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cagatccagctcctcccgcaGggccgcattccgtaccagct	9	18	0	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:48814881G>T	ENST00000315396.7	-	5	1097	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	139					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCCTCCCGCAGGGCCGCATTC	0.587																																																	0													83	70	74					19																	48814881		692	1591	2283	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.415C>A	19.37:g.48814881G>T	ENSP00000318429:p.Leu139Met		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.L139M	ENST00000315396.7	37	c.415	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863869	0.32884	.	.	ENSG00000105479	ENST00000315396	D	0.91792	-2.91	4.41	3.36	0.38483	.	.	.	.	.	D	0.94935	0.8362	M	0.79258	2.445	0.29250	N	0.87203	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88984	0.3410	9	0.48119	T	0.1	-12.9341	7.9636	0.30085	0.1208:0.0:0.8792:0.0	.	139;139	Q96M63;Q96M63-5	CC114_HUMAN;.	M	139	ENSP00000318429:L139M	ENSP00000318429:L139M	L	-	1	2	CCDC114	53506693	0.986000	0.35501	0.865000	0.33974	0.170000	0.22686	3.334000	0.52097	0.939000	0.37446	0.655000	0.94253	CTG	CCDC114	-	NULL		0.587	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	G	NM_144577		48814881	-1	no_errors	ENST00000315396	ensembl	human	known	70_37	missense	SNP	0.893	T	T	48814881	G	T	48814881	3	4	91	1	0	0	0	0	1	0	0	0	2756	991	35	4	1637	4	CCDC114	19	48814881	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	3433271	48814881	10314102	87	13204										
AP2A1	160	genome.wustl.edu	37	chr19	50308784	50308784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tgcagcaggtgctcaatatcGagtgcctgcgggacttcctg	13	11	1	0			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:50308784G>A	ENST00000359032.5	+	20	2485	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	AP2A1_ENST00000354293.5_Missense_Mutation_p.E807K	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	829					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCTCAATATCGAGTGCCTGCG	0.716																																																	0													9	12	11					19																	50308784		2040	4154	6194	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2485G>A	19.37:g.50308784G>A	ENSP00000351926:p.Glu829Lys		Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.E807K	ENST00000359032.5	37	c.2419	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	g	37	6.619404	0.97709	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.48201	0.82;0.82	5.94	5.94	0.96194	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.047620	0.85682	D	0.000000	T	0.70090	0.3184	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.64410	0.686;0.925	T	0.66264	-0.5967	10	0.27082	T	0.32	-14.7922	19.1419	0.93449	0.0:0.0:1.0:0.0	.	807;829	O95782-2;O95782	.;AP2A1_HUMAN	K	807;829	ENSP00000346246:E807K;ENSP00000351926:E829K	ENSP00000346246:E807K	E	+	1	0	AP2A1	55000596	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.522000	0.98032	2.821000	0.97095	0.651000	0.88453	GAG	AP2A1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.716	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	G			50308784	1	no_errors	ENST00000354293	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50308784	G	A	50308784	3	1	91	1	0	0	0	0	1	0	0	0	739	1059	37	1	2563	1	AP2A1	19	50308784	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	1493903	50308784	8820199	88	13205										
PTPRA	5786	genome.wustl.edu	37	chr20	2945566	2945566	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	caacggcagaaccagttaaaGaagaggccaaaacttcaaat	8	9	1	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr20:2945566G>C	ENST00000216877.6	+	5	533	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	PTPRA_ENST00000399903.2_Missense_Mutation_p.E45Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.E45Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.E45Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.E45Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.E56Q|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	45					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCAGTTAAAGAAGAGGCCAA	0.388																																																	0													103	96	98					20																	2945566		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.133G>C	20.37:g.2945566G>C	ENSP00000216877:p.Glu45Gln		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E56Q	ENST00000216877.6	37	c.166	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053088	0.36181	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T;T	0.51817	3.84;0.81;3.84;3.84;0.69;3.83;3.84;0.72;3.84	4.54	2.54	0.30619	.	0.939771	0.08904	U	0.876794	T	0.31949	0.0813	N	0.19112	0.55	0.80722	D	1	B;B	0.25105	0.072;0.118	B;B	0.23574	0.021;0.047	T	0.04495	-1.0947	10	0.33141	T	0.24	.	7.7489	0.28886	0.201:0.0:0.799:0.0	.	56;45	B7Z2A4;P18433-4	.;.	Q	45;45;45;45;45;45;56;45;45;45	ENSP00000369756:E45Q;ENSP00000414089:E45Q;ENSP00000216877:E45Q;ENSP00000382787:E45Q;ENSP00000390775:E45Q;ENSP00000393553:E56Q;ENSP00000314568:E45Q;ENSP00000394132:E45Q;ENSP00000348468:E45Q	ENSP00000216877:E45Q	E	+	1	0	PTPRA	2893566	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	1.849000	0.39318	0.448000	0.26722	0.650000	0.86243	GAA	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.388	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	G			2945566	1	no_errors	ENST00000425918	ensembl	human	known	70_37	missense	SNP	0.998	C	C	2945566	G	C	2945566	3	2	91	1	0	0	0	0	1	0	0	0	12825	943	33	1	139	1	PTPRA	20	2945566	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		2945566	60079954	89	13206										
SFRS15	57466	genome.wustl.edu	37	chr21	33060778	33060778	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cttaggaattcctttccaatCtgtgagcgtgaaagaaattt	8	7	1	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr21:33060778C>A	ENST00000286835.7	-	16	2268		c.e16-1		SCAF4_ENST00000399804.1_Splice_Site|SCAF4_ENST00000434667.3_Splice_Site	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4							nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTTTCCAATCTGTGAGCGTG	0.348																																																	0													160	157	158					21																	33060778		2203	4300	6503	SO:0001630	splice_region_variant	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1886-1G>T	21.37:g.33060778C>A			C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Splice_Site	SNP	-	e16-1	ENST00000286835.7	37	c.1886-1	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874105	0.72180	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6197	0.88077	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAF4	31982649	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.317000	0.65822	2.678000	0.91216	0.655000	0.94253	.	SCAF4	-	-		0.348	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	C	XM_047889	Intron	33060778	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	33060778	C	A	33060778	5	1	91	1	0	0	0	0	0	0	1	0	14201	927	32	3	1578	3	SFRS15	21	33060778	Splice_Site	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		33060778	15069117	90	13207										
TTC3	7267	genome.wustl.edu	37	chr21	38505018	38505018	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	actttaccagcagatttgaaGaacatcttggagaaacagtt	8	7	1	4			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr21:38505018G>A	ENST00000399017.2	+	17	4142	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	TTC3_ENST00000540756.1_Silent_p.K155K|TTC3_ENST00000355666.1_Silent_p.K465K|TTC3_ENST00000354749.2_Silent_p.K465K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	465					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGATTTGAAGAACATCTTGG	0.303																																					Ovarian(38;194 1649 35661)												0													53	54	54					21																	38505018		2203	4299	6502	SO:0001819	synonymous_variant	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1395G>A	21.37:g.38505018G>A			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.K465	ENST00000399017.2	37	c.1395	CCDS13651.1	21																																																																																			TTC3	-	NULL		0.303	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38505018	1	no_errors	ENST00000354749	ensembl	human	known	70_37	silent	SNP	0.614	A	A	38505018	G	A	38505018	2	1	91	1	0	0	0	0	0	0	0	1	16728	933	33	1		1	TTC3	21	38505018	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	5444240	38505018	9624877	91	13208										
PCNT	5116	genome.wustl.edu	37	chr21	47845794	47845794	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ccaccagatcctggcgctgtCagaaggccttgcacccccaa	9	17	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr21:47845794C>G	ENST00000359568.5	+	33	7336	c.7229C>G	c.(7228-7230)tCa>tGa	p.S2410*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2410					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGGCGCTGTCAGAAGGCCTT	0.607																																																	0													81	77	78					21																	47845794		2203	4300	6503	SO:0001587	stop_gained	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7229C>G	21.37:g.47845794C>G	ENSP00000352572:p.Ser2410*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.S2410*	ENST00000359568.5	37	c.7229	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	46	12.366943	0.99661	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.6579	0.68847	0.0:1.0:0.0:0.0	.	.	.	.	X	2410	.	ENSP00000352572:S2410X	S	+	2	0	PCNT	46670222	0.996000	0.38824	0.546000	0.28166	0.046000	0.14306	4.201000	0.58439	2.337000	0.79520	0.655000	0.94253	TCA	PCNT	-	NULL		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	C	NM_006031		47845794	1	no_errors	ENST00000359568	ensembl	human	known	70_37	nonsense	SNP	0.920	G	G	47845794	C	G	47845794	4	3	91	1	0	0	0	0	0	1	0	0	11614	838	29	1	7359	1	PCNT	21	47845794	Nonsense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	9340776	47845794	284101	92	13209										
HIRA	7290	genome.wustl.edu	37	chr22	19373227	19373227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gcctcggtcatgatggctagGctcttgccataggtggactg	14	10	2	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:19373227G>T	ENST00000263208.5	-	12	1402	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	HIRA_ENST00000541063.1_Missense_Mutation_p.S338R|HIRA_ENST00000340170.4_Missense_Mutation_p.S382R|HIRA_ENST00000546308.1_Missense_Mutation_p.S338R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	382					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)			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)					TGATGGCTAGGCTCTTGCCAT	0.597																																																	0													97	77	84					22																	19373227		2203	4300	6503	SO:0001583	missense	7290			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.1146C>A	22.37:g.19373227G>T	ENSP00000263208:p.Ser382Arg		Q05BU9|Q8IXN2	Missense_Mutation	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.S382R	ENST00000263208.5	37	c.1146	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101761	0.56183	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.39;-0.64;-0.49;-0.45	5.65	1.24	0.21308	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.48362	1.52	0.80722	D	1	P;D;P	0.76494	0.594;0.999;0.459	P;D;B	0.80764	0.487;0.994;0.293	T	0.67292	-0.5707	10	0.12766	T	0.61	-20.7524	9.1998	0.37251	0.3398:0.0:0.6602:0.0	.	338;382;382	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	R	382;382;338;338	ENSP00000345350:S382R;ENSP00000263208:S382R;ENSP00000446073:S338R;ENSP00000441870:S338R	ENSP00000263208:S382R	S	-	3	2	HIRA	17753227	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.036000	0.30228	0.491000	0.27793	0.655000	0.94253	AGC	HIRA	-	NULL		0.597	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	G	NM_003325		19373227	-1	no_errors	ENST00000263208	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19373227	G	T	19373227	3	4	91	1	0	0	0	0	1	0	0	0	7140	1194	42	4	1963	4	HIRA	22	19373227	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09		19373227	31931339	93	13210										
MCM5	4174	genome.wustl.edu	37	chr22	35804402	35804402	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tttcccttaccttgtacagaGatcaggctgggcgccccaaa	9	13	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:35804402G>A	ENST00000216122.4	+	6	752	c.598G>A	c.(598-600)Gat>Aat	p.D200N	MCM5_ENST00000382011.5_Splice_Site_p.D157N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	200					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTTGTACAGAGATCAGGCTGG	0.562																																																	0													65	60	62					22																	35804402		2203	4300	6503	SO:0001630	splice_region_variant	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.597-1G>A	22.37:g.35804402G>A			O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase	p.D200N	ENST00000216122.4	37	c.598	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812759	0.70912	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000444778	T;T;T	0.04706	3.57;3.57;3.57	4.35	4.35	0.52113	Nucleic acid-binding, OB-fold-like (1);	0.061325	0.64402	D	0.000006	T	0.03520	0.0101	N	0.11000	0.08	0.54753	D	0.999984	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.52852	-0.8520	10	0.20046	T	0.44	-18.1826	17.4517	0.87594	0.0:0.0:1.0:0.0	.	157;200	B1AHB1;P33992	.;MCM5_HUMAN	N	200;157;109;57	ENSP00000216122:D200N;ENSP00000371441:D157N;ENSP00000408705:D57N	ENSP00000216122:D200N	D	+	1	0	MCM5	34134402	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.117000	0.94347	2.418000	0.82041	0.655000	0.94253	GAT	MCM5	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.562	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	G		Missense_Mutation	35804402	1	no_errors	ENST00000216122	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35804402	G	A	35804402	5	1	91	1	0	0	0	0	0	0	1	0	9413	956	33	1	616	1	MCM5	22	35804402	Splice_Site	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	16431175	35804402	15500164	94	13211										
TTLL1	25809	genome.wustl.edu	37	chr22	43465794	43465794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	ggttgactatttggtcatctGagagccgatatccagcttca	10	9	3	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:43465794G>A	ENST00000266254.7	-	4	410	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TTLL1_ENST00000331018.7_Missense_Mutation_p.S57L	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	57	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTGGTCATCTGAGAGCCGATA	0.463																																																	0													159	149	152					22																	43465794		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.170C>T	22.37:g.43465794G>A	ENSP00000266254:p.Ser57Leu		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S57L	ENST00000266254.7	37	c.170	CCDS14043.1	22	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670123	0.67814	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05717	3.4;3.64	5.89	5.89	0.94794	.	0.116712	0.64402	D	0.000011	T	0.08714	0.0216	N	0.26042	0.785	0.80722	D	1	B;B	0.23990	0.043;0.095	B;B	0.33121	0.098;0.158	T	0.39761	-0.9598	10	0.33940	T	0.23	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	57;57	O95922-4;O95922	.;TTLL1_HUMAN	L	57	ENSP00000333734:S57L;ENSP00000266254:S57L	ENSP00000266254:S57L	S	-	2	0	TTLL1	41795738	1.000000	0.71417	0.950000	0.38849	0.708000	0.40852	9.467000	0.97671	2.788000	0.95919	0.557000	0.71058	TCA	TTLL1	-	NULL		0.463	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	G	NM_012263		43465794	-1	no_errors	ENST00000266254	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43465794	G	A	43465794	3	1	91	1	0	0	0	0	1	0	0	0	16753	1294	45	1	1133	1	TTLL1	22	43465794	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	7661392	43465794	7838772	95	13212										
RIBC2	26150	genome.wustl.edu	37	chr22	45810212	45810212	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tccatttatagggagacactGaagcctgggatgttcaagtt	11	7	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:45810212G>A	ENST00000342894.3	+	0	335				SMC1B_ENST00000357450.4_5'Flank|RIBC2_ENST00000538017.1_Missense_Mutation_p.E42K|SMC1B_ENST00000404354.3_5'Flank			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGGAGACACTGAAGCCTGGGA	0.358																																																	0													132	120	124					22																	45810212		692	1591	2283	SO:0001623	5_prime_UTR_variant	26150			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.-80G>A	22.37:g.45810212G>A			Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RIB43A	p.E42K	ENST00000342894.3	37	c.124		22	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122702	0.20877	.	.	ENSG00000128408	ENST00000538017	T	0.24908	1.83	4.99	-4.06	0.03986	.	.	.	.	.	T	0.13072	0.0317	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37641	-0.9697	6	0.19590	T	0.45	.	6.1614	0.20366	0.3354:0.2906:0.374:0.0	.	.	.	.	K	42	ENSP00000444196:E42K	ENSP00000444196:E42K	E	+	1	0	RIBC2	44188876	0.007000	0.16637	0.008000	0.14137	0.374000	0.29953	0.078000	0.14761	-0.560000	0.06102	0.484000	0.47621	GAA	RIBC2	-	pfam_RIB43A		0.358	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	G	NM_015653		45810212	1	no_errors	ENST00000538017	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45810212	G	A	45810212	1	1	91	0	1	0	0	0	0	0	0	0	13383	1291	45	1		1	RIBC2	22	45810212	5'UTR	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	2344418	45810212	5494354	96	13213										
GTSE1	51512	genome.wustl.edu	37	chr22	46725458	46725458	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	gccaaaccttcaccggtggtGggacaggtgagaagtggcag	16	9	1	1			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:46725458G>T	ENST00000454366.1	+	11	2342	c.2130G>T	c.(2128-2130)gtG>gtT	p.V710V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	691					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CACCGGTGGTGGGACAGGTGA	0.537																																					GBM(153;542 1915 12487 29016 50495)												0													64	53	57					22																	46725458		2203	4300	6503	SO:0001819	synonymous_variant	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2130G>T	22.37:g.46725458G>T			B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	NULL	p.V710	ENST00000454366.1	37	c.2130	CCDS14074.2	22																																																																																			GTSE1	-	NULL		0.537	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	G	NM_016426		46725458	1	no_errors	ENST00000454366	ensembl	human	known	70_37	silent	SNP	0.058	T	T	46725458	G	T	46725458	2	4	91	1	0	0	0	0	0	0	0	1	6905	1335	47	4		4	GTSE1	22	46725458	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	915246	46725458	4579108	97	13214										
ZBED4	9889	genome.wustl.edu	37	chr22	50277648	50277648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	cctttccagccggaacatgaGctccaggaagaagtctccag	10	13	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:50277648G>T	ENST00000216268.5	+	2	815	c.338G>T	c.(337-339)aGc>aTc	p.S113I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	113						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAACATGAGCTCCAGGAAG	0.542																																																	0													55	60	59					22																	50277648		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.338G>T	22.37:g.50277648G>T	ENSP00000216268:p.Ser113Ile		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S113I	ENST00000216268.5	37	c.338	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560134	0.65538	.	.	ENSG00000100426	ENST00000216268	T	0.49432	0.78	5.31	3.02	0.34903	.	0.154218	0.56097	D	0.000027	T	0.41971	0.1182	L	0.29908	0.895	0.44595	D	0.997569	P	0.47409	0.895	P	0.47470	0.548	T	0.38585	-0.9654	10	0.87932	D	0	-7.8631	11.5352	0.50633	0.1546:0.0:0.8454:0.0	.	113	O75132	ZBED4_HUMAN	I	113	ENSP00000216268:S113I	ENSP00000216268:S113I	S	+	2	0	ZBED4	48663652	1.000000	0.71417	0.800000	0.32199	0.824000	0.46624	2.076000	0.41548	0.688000	0.31529	0.650000	0.86243	AGC	ZBED4	-	NULL		0.542	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	G	NM_014838		50277648	1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	0.999	T	T	50277648	G	T	50277648	3	4	91	1	0	0	0	0	1	0	0	0	17550	971	34	4	340	4	ZBED4	22	50277648	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	3552190	50277648	1026918	98	13215										
MOSPD2	158747	genome.wustl.edu	37	chrX	14934348	14934348	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tctctgcccaagaccgttttCtgataatggctgcagaaatg	9	10	2	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:14934348C>T	ENST00000380492.3	+	13	1304	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	MOSPD2_ENST00000482354.1_Silent_p.L406L|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	406	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGACCGTTTTCTGATAATGGC	0.423																																																	0													162	157	159					X																	14934348		2203	4300	6503	SO:0001819	synonymous_variant	158747			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1216C>T	X.37:g.14934348C>T			Q8N3H2|Q8NA83	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm	p.L406	ENST00000380492.3	37	c.1216	CCDS14162.1	X																																																																																			MOSPD2	-	pfam_Major_sperm,superfamily_PapD-like,pfscan_Major_sperm		0.423	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	C	NM_152581		14934348	1	no_errors	ENST00000380492	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14934348	C	T	14934348	2	4	91	1	0	0	0	0	0	0	0	1	9739	912	32	1		1	MOSPD2	23	14934348	Silent	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09		14934348	140336212	99	13216										
BTK	695	genome.wustl.edu	37	chrX	100613645	100613645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	agacactgtatatttgccagCtttgctggagtctctgacaa	9	9	1	2			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:100613645C>A	ENST00000308731.7	-	11	1097	c.934G>T	c.(934-936)Gct>Tct	p.A312S	BTK_ENST00000372880.1_Missense_Mutation_p.A312S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	312	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATTTGCCAGCTTTGCTGGAG	0.488									Agammaglobulinemia, X-linked																																								0													238	208	218					X																	100613645		2203	4300	6503	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.934G>T	X.37:g.100613645C>A	ENSP00000308176:p.Ala312Ser		B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.A312S	ENST00000308731.7	37	c.934	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656081	0.47467	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.88509	-2.39;-2.39	5.88	5.88	0.94601	SH2 motif (5);	0.161042	0.56097	D	0.000031	D	0.87513	0.6196	L	0.39467	1.215	0.41524	D	0.988411	P;B;P	0.39157	0.662;0.318;0.565	P;B;B	0.47251	0.542;0.41;0.341	D	0.87084	0.2168	10	0.49607	T	0.09	.	10.2929	0.43608	0.0:0.866:0.0:0.134	.	312;312;312	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	S	312	ENSP00000361971:A312S;ENSP00000308176:A312S	ENSP00000308176:A312S	A	-	1	0	BTK	100500301	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.982000	0.49337	2.471000	0.83476	0.600000	0.82982	GCT	BTK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.488	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	C	NM_000061		100613645	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100613645	C	A	100613645	3	1	91	1	0	0	0	0	1	0	0	0	1560	797	28	4	1081	4	BTK	23	100613645	Missense_Mutation	SNP	C	TCGA-EA-A6QX-01A-12D-A33O-09	85679297	100613645	54656915	100	13217										
ODZ1	10178	genome.wustl.edu	37	chrX	123680777	123680777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	tgagtactgtccttgccaatGaggaatttgattcgatcata	9	7	1	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:123680777G>A	ENST00000371130.3	-	15	2661	c.2598C>T	c.(2596-2598)ctC>ctT	p.L866L	TENM1_ENST00000422452.2_Silent_p.L866L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	866					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTTGCCAATGAGGAATTTGA	0.408																																																	0													127	116	120					X																	123680777		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2598C>T	X.37:g.123680777G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L866	ENST00000371130.3	37	c.2598	CCDS14609.1	X																																																																																			TENM1	-	NULL		0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123680777	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	silent	SNP	1.000	A	A	123680777	G	A	123680777	2	1	91	1	0	0	0	0	0	0	0	1	10858	1277	45	1		1	ODZ1	23	123680777	Silent	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	23067132	123680777	31589783	101	13218										
AFF2	2334	genome.wustl.edu	37	chrX	147733596	147733596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.316831683168317	32	6.73819274033003e-12	3.93040672888582	4.42170756999654	3.83214656066367	2.81737847930752e-06	4.20439557681276e-05	24	aagaagtccagcaagaagacGatctcttttcttcaggcttt	8	9	3	3			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:147733596G>A	ENST00000370460.2	+	2	603	c.124G>A	c.(124-126)Gat>Aat	p.D42N	AFF2_ENST00000370457.5_Missense_Mutation_p.D42N|AFF2_ENST00000370458.1_Missense_Mutation_p.D42N|AFF2_ENST00000342251.3_Missense_Mutation_p.D42N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	42					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGAAGACGATCTCTTTTC	0.378																																																	0													203	192	195					X																	147733596		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.124G>A	X.37:g.147733596G>A	ENSP00000359489:p.Asp42Asn		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.D42N	ENST00000370460.2	37	c.124	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330103	0.81690	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.62	4.75	0.60458	.	0.065426	0.56097	D	0.000029	T	0.75635	0.3876	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.954;0.954;0.954;0.917;0.95;0.999	T	0.73953	-0.3820	10	0.35671	T	0.21	.	15.6398	0.76989	0.0:0.1339:0.8661:0.0	.	42;42;42;42;42;42	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	N	42	ENSP00000359489:D42N;ENSP00000359486:D42N;ENSP00000345459:D42N;ENSP00000359487:D42N	ENSP00000345459:D42N	D	+	1	0	AFF2	147541288	1.000000	0.71417	0.784000	0.31847	0.881000	0.50899	9.188000	0.94921	1.114000	0.41781	0.594000	0.82650	GAT	AFF2	-	pfam_TF_AF4/FMR2		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	G	NM_002025		147733596	1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	0.998	A	A	147733596	G	A	147733596	3	1	91	1	0	0	0	0	1	0	0	0	357	1058	37	1	130	1	AFF2	23	147733596	Missense_Mutation	SNP	G	TCGA-EA-A6QX-01A-12D-A33O-09	24052819	147733596	7536964	102	13219										
C1orf144	26099	genome.wustl.edu	37	chr1	16719862	16719862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gccccaactccaccagcaggCccacccttccagtcaagtcc	6	21	1	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:16719862C>A	ENST00000401088.4	+	3	416	c.241C>A	c.(241-243)Ccc>Acc	p.P81T	SZRD1_ENST00000375590.3_Missense_Mutation_p.P61T|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Missense_Mutation_p.P80T|SZRD1_ENST00000492354.1_Missense_Mutation_p.P61T|SZRD1_ENST00000401089.3_Missense_Mutation_p.P62T|SPATA21_ENST00000466212.1_5'Flank	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	81	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																CACCAGCAGGCCCACCCTTCC	0.672																																																	0													39	46	44					1																	16719862		2051	4192	6243	SO:0001583	missense	26099			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 144"	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.241C>A	1.37:g.16719862C>A	ENSP00000383866:p.Pro81Thr		A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	NULL	p.P61T	ENST00000401088.4	37	c.181	CCDS44065.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.202612	0.94997	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.1	5.1	0.69264	SUZ domain (1);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.91635	0.999;0.998;0.974;0.943	T	0.71144	-0.4678	10	0.72032	D	0.01	-1.1589	17.8804	0.88839	0.0:1.0:0.0:0.0	.	61;81;61;62	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	T	81;80;62;81;61;61	ENSP00000383866:P81T;ENSP00000419589:P80T;ENSP00000383867:P62T;ENSP00000364740:P61T;ENSP00000418012:P61T	ENSP00000364740:P61T	P	+	1	0	C1orf144	16592449	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.952000	0.75989	2.527000	0.85204	0.561000	0.74099	CCC	SZRD1	-	NULL		0.672	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	C	NM_015609		16719862	1	no_errors	ENST00000375590	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16719862	C	A	16719862	3	1	92	1	0	0	0	0	1	0	0	0	2007	739	26	4	251	4	C1orf144	1	16719862	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		16719862	232530759	1	13220										
UBR4	23352	genome.wustl.edu	37	chr1	19420536	19420536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	acgggatgatgcgaagcaggCcctggagcacactggggttg	17	9	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:19420536C>T	ENST00000375254.3	-	95	13871	c.13844G>A	c.(13843-13845)gGc>gAc	p.G4615D	UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.G279D|UBR4_ENST00000375217.2_Missense_Mutation_p.G4608D|UBR4_ENST00000375224.1_Missense_Mutation_p.G322D|UBR4_ENST00000375226.2_Missense_Mutation_p.G4591D|UBR4_ENST00000375267.2_Missense_Mutation_p.G4615D|UBR4_ENST00000429347.2_Missense_Mutation_p.G138D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4615					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCGAAGCAGGCCCTGGAGCAC	0.507																																																	0													103	87	93					1																	19420536		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13844G>A	1.37:g.19420536C>T	ENSP00000364403:p.Gly4615Asp		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G4615D	ENST00000375254.3	37	c.13844	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802342	0.90538	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;1.58;1.58;1.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	T	0.61559	-0.7038	10	0.19147	T	0.46	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	279;138;4615;4591	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	D	4615;4615;4608;4591;322;138;279	ENSP00000364403:G4615D;ENSP00000364416:G4615D;ENSP00000364365:G4608D;ENSP00000364374:G4591D;ENSP00000364372:G322D;ENSP00000394173:G138D;ENSP00000444070:G279D	ENSP00000364365:G4608D	G	-	2	0	UBR4	19293123	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.298000	0.78815	2.785000	0.95823	0.591000	0.81541	GGC	UBR4	-	NULL		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19420536	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19420536	C	T	19420536	3	4	92	1	0	0	0	0	1	0	0	0	16935	739	26	4	1755	4	UBR4	1	19420536	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	2700674	19420536	229830085	2	13221										
KIAA0467	23334	genome.wustl.edu	37	chr1	43895462	43895462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggccagagatctctctgacaGatgtctgccagctcagagga	12	11	4	4	rs202088024		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:43895462G>A	ENST00000562955.1	+	28	4084	c.4084G>A	c.(4084-4086)Gat>Aat	p.D1362N	SZT2_ENST00000372442.1_Missense_Mutation_p.D520N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1419					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTCTGACAGATGTCTGCCA	0.572																																																	0													80	76	77					1																	43895462		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4084G>A	1.37:g.43895462G>A	ENSP00000457168:p.Asp1362Asn		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.D1362N	ENST00000562955.1	37	c.4084	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214445	0.79352	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.7	5.7	0.88788	.	0.376332	0.27189	N	0.020505	T	0.34745	0.0908	N	0.08118	0	0.27609	N	0.948712	P	0.44139	0.827	P	0.49192	0.602	T	0.22173	-1.0224	9	0.27082	T	0.32	.	17.6201	0.88078	0.0:0.0:1.0:0.0	.	1362	Q5T011-5	.	N	520	.	ENSP00000361519:D520N	D	+	1	0	SZT2	43668049	0.991000	0.36638	0.988000	0.46212	0.981000	0.71138	2.734000	0.47368	2.688000	0.91661	0.655000	0.94253	GAT	SZT2	-	NULL		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	G	NM_015284		43895462	1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.990	A	A	43895462	G	A	43895462	3	1	92	1	0	0	0	0	1	0	0	0	8198	942	33	1	1604	1	KIAA0467	1	43895462	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	24474926	43895462	205355159	3	13222										
EPS15	2060	genome.wustl.edu	37	chr1	51875224	51875224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	taccagttgggcctcctcagCacatttctttctgacttcct	6	14	3	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:51875224C>A	ENST00000371733.3	-	14	1354	c.1258G>T	c.(1258-1260)Gct>Tct	p.A420S	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.A420S|EPS15_ENST00000396122.4_Missense_Mutation_p.A97S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	420					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCCTCCTCAGCACATTTCTTT	0.468			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											154	131	139					1																	51875224		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1258G>T	1.37:g.51875224C>A	ENSP00000360798:p.Ala420Ser		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.A420S	ENST00000371733.3	37	c.1258	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317910	0.40996	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	D;D;T	0.82893	-1.66;-1.66;2.29	5.75	4.83	0.62350	.	0.270662	0.19705	N	0.107954	D	0.82360	0.5020	L	0.41236	1.265	0.44302	D	0.997171	D;B;B	0.58620	0.983;0.001;0.059	P;B;B	0.51550	0.673;0.004;0.043	T	0.79085	-0.1948	10	0.22109	T	0.4	.	16.1273	0.81404	0.1348:0.8652:0.0:0.0	.	420;420;106	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	S	420;420;97	ENSP00000360795:A420S;ENSP00000360798:A420S;ENSP00000379428:A97S	ENSP00000360795:A420S	A	-	1	0	EPS15	51647812	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.781000	0.26774	1.397000	0.46682	0.563000	0.77884	GCT	EPS15	-	NULL		0.468	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	C	NM_001981		51875224	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51875224	C	A	51875224	3	1	92	1	0	0	0	0	1	0	0	0	5204	710	25	4	1480	4	EPS15	1	51875224	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	7979762	51875224	197375397	4	13223										
TRIM33	51592	genome.wustl.edu	37	chr1	114968154	114968154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tggtacaggtgctggtggttGctgcatcctcatctgttgca	13	9	2	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:114968154G>T	ENST00000358465.2	-	9	1695	c.1612C>A	c.(1612-1614)Caa>Aaa	p.Q538K	TRIM33_ENST00000369543.2_Missense_Mutation_p.Q538K|TRIM33_ENST00000450349.2_Missense_Mutation_p.Q146K	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	538					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGGTGGTTGCTGCATCCTC	0.458			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													354	325	334					1																	114968154		2203	4300	6503	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1612C>A	1.37:g.114968154G>T	ENSP00000351250:p.Gln538Lys		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain	p.Q538K	ENST00000358465.2	37	c.1612	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.301357|3.301357	0.60195|0.60195	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.75367|.	-0.8;-0.71;-0.93|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.165528|.	0.53938|.	D|.	0.000044|.	T|T	0.60261|0.60261	0.2255|0.2255	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.45715|.	0.865;0.865;0.859;0.779|.	P;P;P;B|.	0.57620|.	0.824;0.824;0.473;0.281|.	T|T	0.58059|0.58059	-0.7703|-0.7703	10|5	0.10377|.	T|.	0.69|.	-9.2861|-9.2861	18.3776|18.3776	0.90440|0.90440	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	146;146;538;538|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	K|R	538;538;146|274	ENSP00000351250:Q538K;ENSP00000358556:Q538K;ENSP00000412077:Q146K|.	ENSP00000351250:Q538K|.	Q|S	-|-	1|3	0|2	TRIM33|TRIM33	114769677|114769677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.668000|8.668000	0.91158|0.91158	2.403000|2.403000	0.81681|0.81681	0.650000|0.650000	0.86243|0.86243	CAA|AGC	TRIM33	-	NULL		0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	G	NM_015906		114968154	-1	no_errors	ENST00000358465	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114968154	G	T	114968154	3	4	92	1	0	0	0	0	1	0	0	0	16538	1328	46	4	1819	4	TRIM33	1	114968154	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	63092930	114968154	134282467	5	13224										
PRPF3	9129	genome.wustl.edu	37	chr1	150307413	150307413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggctatttttcaggaaggtgGagttaaaagaccaaacgaaa	11	5	1	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:150307413G>C	ENST00000324862.6	+	7	901	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	PRPF3_ENST00000414970.2_Missense_Mutation_p.E197Q|PRPF3_ENST00000543398.1_Missense_Mutation_p.E111Q|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	246					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGGAAGGTGGAGTTAAAAGA	0.473																																					Ovarian(168;1070 2670 5178 20729)												0													55	51	52					1																	150307413		2203	4300	6503	SO:0001583	missense	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.736G>C	1.37:g.150307413G>C	ENSP00000315379:p.Glu246Gln		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI	p.E246Q	ENST00000324862.6	37	c.736	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609323	0.66558	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.77620	-1.11;-1.09	6.08	5.16	0.70880	.	0.196329	0.52532	D	0.000069	T	0.54532	0.1864	L	0.44542	1.39	0.80722	D	1	P;P	0.45531	0.86;0.751	B;B	0.36335	0.222;0.099	T	0.57046	-0.7878	10	0.14656	T	0.56	-20.5871	14.8236	0.70091	0.0683:0.0:0.9317:0.0	.	197;246	E7EVD1;O43395	.;PRPF3_HUMAN	Q	246;197;111	ENSP00000315379:E246Q;ENSP00000387844:E197Q	ENSP00000315379:E246Q	E	+	1	0	PRPF3	148574037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.355000	0.79434	2.894000	0.99253	0.655000	0.94253	GAG	PRPF3	-	NULL		0.473	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	G	NM_004698		150307413	1	no_errors	ENST00000324862	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150307413	G	C	150307413	3	2	92	1	0	0	0	0	1	0	0	0	12592	1175	41	1	758	1	PRPF3	1	150307413	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	35339259	150307413	98943208	6	13225										
INTS3	65123	genome.wustl.edu	37	chr1	153721203	153721203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	aaaatatctggttggcagaaAgtgttctggatatcctgaca	10	6	2	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:153721203A>G	ENST00000318967.2	+	6	1124	c.556A>G	c.(556-558)Agt>Ggt	p.S186G	INTS3_ENST00000456435.1_5'UTR|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.S186G|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000512605.1_5'Flank	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	187					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTGGCAGAAAGTGTTCTGGA	0.468																																																	0													226	231	229					1																	153721203		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.556A>G	1.37:g.153721203A>G	ENSP00000318641:p.Ser186Gly		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.S186G	ENST00000318967.2	37	c.556	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429277	0.62844	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.52	5.52	0.82312	.	0.092352	0.85682	D	0.000000	T	0.31040	0.0784	L	0.31578	0.945	0.80722	D	1	B	0.18741	0.03	B	0.16289	0.015	T	0.16100	-1.0414	9	0.38643	T	0.18	.	13.6401	0.62246	1.0:0.0:0.0:0.0	.	186	Q68E01-2	.	G	186	.	ENSP00000318641:S186G	S	+	1	0	INTS3	151987827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.977000	0.88081	2.317000	0.78254	0.460000	0.39030	AGT	INTS3	-	NULL		0.468	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	A	NM_023015		153721203	1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153721203	A	G	153721203	3	3	92	1	0	0	0	0	1	0	0	0	7799	72	3	5	578	5	INTS3	1	153721203	Missense_Mutation	SNP	A	TCGA-EA-A78R-01A-11D-A32I-09	3413790	153721203	95529418	7	13226										
BCAN	63827	genome.wustl.edu	37	chr1	156622156	156622156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	aagaggaggaagaagaagagGaggaggtggaggatgaggct	21	1	0	5			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:156622156G>A	ENST00000329117.5	+	8	1750	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	BCAN_ENST00000361588.5_Missense_Mutation_p.E472K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	472	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					agaagaagaggaggaggtgga	0.582																																																	0													22	21	21					1																	156622156		2203	4299	6502	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1414G>A	1.37:g.156622156G>A	ENSP00000331210:p.Glu472Lys		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E472K	ENST00000329117.5	37	c.1414	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	5.268	0.234965	0.09969	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.21361	2.01;2.55	4.65	2.72	0.32119	.	0.403364	0.19374	N	0.115821	T	0.04452	0.0122	N	0.19112	0.55	0.27757	N	0.943955	B;P	0.35272	0.361;0.493	B;B	0.34242	0.054;0.178	T	0.29792	-1.0000	10	0.37606	T	0.19	-3.5609	7.5782	0.27948	0.2098:0.0:0.7902:0.0	.	472;472	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	K	411;472;472	ENSP00000331210:E472K;ENSP00000354925:E472K	ENSP00000255029:E411K	E	+	1	0	BCAN	154888780	1.000000	0.71417	0.979000	0.43373	0.038000	0.13279	1.668000	0.37481	0.931000	0.37242	0.555000	0.69702	GAG	BCAN	-	NULL		0.582	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	G	NM_021948		156622156	1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	0.981	A	A	156622156	G	A	156622156	3	1	92	1	0	0	0	0	1	0	0	0	1346	1175	41	1	1440	1	BCAN	1	156622156	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	2900953	156622156	92628465	8	13227										
CAPN9	10753	genome.wustl.edu	37	chr1	230883277	230883277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ccgggccccagggcctcaggCacacccggttcccaaggacg	13	18	1	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:230883277C>A	ENST00000271971.2	+	1	148	c.35C>A	c.(34-36)gCa>gAa	p.A12E	CAPN9_ENST00000366666.2_Missense_Mutation_p.A12E|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.A12E	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	12					digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGCCTCAGGCACACCCGGTT	0.612																																																	0													62	69	66					1																	230883277		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.35C>A	1.37:g.230883277C>A	ENSP00000271971:p.Ala12Glu		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A12E	ENST00000271971.2	37	c.35	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246451	0.01481	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.46063	0.88;0.88;0.88	5.29	-0.127	0.13510	.	0.711974	0.14161	N	0.337369	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.22977	-1.0201	10	0.20519	T	0.43	.	10.1368	0.42712	0.6393:0.2881:0.0:0.0726	.	12;12;12	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	E	12	ENSP00000271971:A12E;ENSP00000346538:A12E;ENSP00000355626:A12E	ENSP00000271971:A12E	A	+	2	0	CAPN9	228949900	0.001000	0.12720	0.004000	0.12327	0.218000	0.24690	0.972000	0.29409	0.136000	0.18733	-0.140000	0.14226	GCA	CAPN9	-	NULL		0.612	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	C	NM_006615		230883277	1	no_errors	ENST00000271971	ensembl	human	known	70_37	missense	SNP	0.001	A	A	230883277	C	A	230883277	3	1	92	1	0	0	0	0	1	0	0	0	2637	710	25	4	37	4	CAPN9	1	230883277	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	74261121	230883277	18367344	9	13228										
APOB	338	genome.wustl.edu	37	chr2	21232108	21232108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gaaatgtaggtgacaagtgtGctataaacctggcctaccag	11	8	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:21232108G>T	ENST00000233242.1	-	26	7759	c.7632C>A	c.(7630-7632)agC>agA	p.S2544R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2544					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAAGTGTGCTATAAACCT	0.433																																																	0													119	101	107					2																	21232108		2203	4299	6502	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7632C>A	2.37:g.21232108G>T	ENSP00000233242:p.Ser2544Arg		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S2544R	ENST00000233242.1	37	c.7632	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313241	0.40895	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00686	5.85	5.31	-3.9	0.04181	.	1.258120	0.05245	N	0.512827	T	0.01029	0.0034	L	0.56769	1.78	0.09310	N	0.999992	B	0.22480	0.07	B	0.19148	0.024	T	0.42599	-0.9442	10	0.44086	T	0.13	.	5.2824	0.15682	0.4946:0.0:0.1842:0.3211	.	2544	P04114	APOB_HUMAN	R	2544	ENSP00000233242:S2544R	ENSP00000233242:S2544R	S	-	3	2	APOB	21085613	0.004000	0.15560	0.000000	0.03702	0.872000	0.50106	0.076000	0.14712	-1.007000	0.03408	0.561000	0.74099	AGC	APOB	-	NULL		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	G			21232108	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	T	T	21232108	G	T	21232108	3	4	92	1	0	0	0	0	1	0	0	0	785	1310	46	4	6075	4	APOB	2	21232108	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		21232108	221967265	10	13229										
DNAJC27	51277	genome.wustl.edu	37	chr2	25170541	25170541	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cacaactgctttgaaggcatCttcactgccaggtgctacac	8	13	2	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:25170541C>T	ENST00000264711.2	-	7	955	c.766G>A	c.(766-768)Gat>Aat	p.D256N	DNAJC27_ENST00000534855.1_Missense_Mutation_p.D185N	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	256	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTGAAGGCATCTTCACTGCCA	0.443																																																	0													189	176	180					2																	25170541		2203	4300	6503	SO:0001583	missense	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.766G>A	2.37:g.25170541C>T	ENSP00000264711:p.Asp256Asn		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.D256N	ENST00000264711.2	37	c.766	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.603611	0.96626	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.29917	1.55;1.55	5.42	5.42	0.78866	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.41356	1.27	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.38628	-0.9652	10	0.87932	D	0	-21.6689	17.816	0.88634	0.0:1.0:0.0:0.0	.	256	Q9NZQ0	DJC27_HUMAN	N	256;185	ENSP00000264711:D256N;ENSP00000440086:D185N	ENSP00000264711:D256N	D	-	1	0	DNAJC27	25024045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.161000	0.77505	2.542000	0.85734	0.655000	0.94253	GAT	DNAJC27	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.443	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	C	NM_016544		25170541	-1	no_errors	ENST00000264711	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25170541	C	T	25170541	3	4	92	1	0	0	0	0	1	0	0	0	4655	913	32	1	59	1	DNAJC27	2	25170541	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	3938433	25170541	218028832	11	13230										
MCFD2	90411	genome.wustl.edu	37	chr2	47135004	47135004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ctaagccatcaagcaaattaTtgccatcataatcatgcatt	4	10	3	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:47135004T>C	ENST00000409105.1	-	4	433	c.254A>G	c.(253-255)aAt>aGt	p.N85S	MCFD2_ENST00000409207.1_Missense_Mutation_p.N85S|MCFD2_ENST00000409147.1_Missense_Mutation_p.N33S|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000444761.2_Missense_Mutation_p.N66S|MCFD2_ENST00000409218.1_Missense_Mutation_p.N85S|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409913.1_Missense_Mutation_p.N33S|MCFD2_ENST00000409800.1_Missense_Mutation_p.N33S|MCFD2_ENST00000409973.1_Missense_Mutation_p.N85S|MCFD2_ENST00000319466.4_Missense_Mutation_p.N85S	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	85	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	AAGCAAATTATTGCCATCATA	0.463																																																	0													157	135	142					2																	47135004		2203	4300	6503	SO:0001583	missense	90411			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"EF-hand domain containing"	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.254A>G	2.37:g.47135004T>C	ENSP00000386651:p.Asn85Ser		A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.N85S	ENST00000409105.1	37	c.254	CCDS33192.1	2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902461	0.92035	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438;ENST00000434262	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.46	5.46	0.80206	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	D	0.87560	0.2471	10	0.40728	T	0.16	-9.8862	15.3706	0.74560	0.0:0.0:0.0:1.0	.	66;85	E9PD95;Q8NI22	.;MCFD2_HUMAN	S	66;85;33;85;33;85;85;33;85;85;52	ENSP00000394647:N66S;ENSP00000386651:N85S;ENSP00000386941:N33S;ENSP00000317271:N85S;ENSP00000387202:N33S;ENSP00000386386:N85S;ENSP00000386279:N85S;ENSP00000387082:N33S;ENSP00000386261:N85S;ENSP00000402717:N85S;ENSP00000387360:N52S	ENSP00000317271:N85S	N	-	2	0	MCFD2	46988508	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.466000	0.80914	2.291000	0.77112	0.533000	0.62120	AAT	MCFD2	-	NULL		0.463	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MCFD2	HGNC	protein_coding	OTTHUMT00000329518.1	T	NM_139279		47135004	-1	no_errors	ENST00000319466	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47135004	T	C	47135004	3	2	92	1	0	0	0	0	1	0	0	0	9404	1493	52	5	194	5	MCFD2	2	47135004	Missense_Mutation	SNP	T	TCGA-EA-A78R-01A-11D-A32I-09	21964463	47135004	196064369	12	13231										
TMEM87B	84910	genome.wustl.edu	37	chr2	112843658	112843658	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cgccttctcgtgatcattgtGagcctgggctatggcattgt	12	10	2	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:112843658G>T	ENST00000283206.4	+	9	1284	c.915G>T	c.(913-915)gtG>gtT	p.V305V	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	305						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGATCATTGTGAGCCTGGGCT	0.448																																																	0													150	137	141					2																	112843658		2203	4300	6503	SO:0001819	synonymous_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.915G>T	2.37:g.112843658G>T			A8K2M9|Q1RLN2|Q53R54	Silent	SNP	pfam_TM_rcpt_euk	p.V305	ENST00000283206.4	37	c.915	CCDS33275.1	2																																																																																			TMEM87B	-	pfam_TM_rcpt_euk		0.448	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	G	NM_032824		112843658	1	no_errors	ENST00000283206	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112843658	G	T	112843658	2	4	92	1	0	0	0	0	0	0	0	1	16241	1277	45	3		3	TMEM87B	2	112843658	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	65708654	112843658	130355715	13	13232										
TTN	7273	genome.wustl.edu	37	chr2	179435285	179435285	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	attcacagtaactgatctttCtcctgcaacatttttggcct	5	11	3	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:179435285C>T	ENST00000591111.1	-	276	70875	c.70651G>A	c.(70651-70653)Gaa>Aaa	p.E23551K	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16127K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16319K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22624K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16252K|TTN_ENST00000589042.1_Missense_Mutation_p.E25192K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23551	Ig-like 119.		E -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E16127Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGATCTTTCTCCTGCAACA	0.443																																																	1	Substitution - Missense(1)	stomach(1)											79	72	74					2																	179435285		1945	4138	6083	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70651G>A	2.37:g.179435285C>T	ENSP00000465570:p.Glu23551Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E22624K	ENST00000591111.1	37	c.67870		2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056389	0.55325	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.37	5.37	0.77165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76407	0.3983	L	0.52206	1.635	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.77859	-0.2431	9	0.87932	D	0	.	19.47	0.94959	0.0:1.0:0.0:0.0	.	16127;16252;16319;23551	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22624;16127;16319;16252;16125	ENSP00000343764:E22624K;ENSP00000434586:E16127K;ENSP00000340554:E16319K;ENSP00000352154:E16252K	ENSP00000340554:E16319K	E	-	1	0	TTN	179143531	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.729000	0.84864	2.660000	0.90430	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179435285	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179435285	C	T	179435285	3	4	92	1	0	0	0	0	1	0	0	0	16766	922	32	1	32553	1	TTN	2	179435285	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	66591627	179435285	63764088	14	13233										
FAM126B	285172	genome.wustl.edu	37	chr2	201846020	201846020	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tgggatattagctgcatattGaaacttggggatcgagactg	13	5	0	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:201846020G>C	ENST00000418596.3	-	12	1753	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	522						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCTGCATATTGAAACTTGGGG	0.483																																																	0													149	149	149					2																	201846020		2203	4300	6503	SO:0001583	missense	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1566C>G	2.37:g.201846020G>C	ENSP00000393667:p.Phe522Leu		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.F522L	ENST00000418596.3	37	c.1566	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805187	0.50315	.	.	ENSG00000155744	ENST00000418596	T	0.78481	-1.18	5.89	4.1	0.47936	.	0.051486	0.85682	D	0.000000	T	0.80949	0.4722	L	0.40543	1.245	0.52099	D	0.999948	D;P	0.63880	0.993;0.956	D;D	0.68192	0.956;0.931	T	0.79617	-0.1729	10	0.51188	T	0.08	-13.1616	10.0604	0.42270	0.205:0.0:0.795:0.0	.	328;522	B3KUG1;Q8IXS8	.;F126B_HUMAN	L	522	ENSP00000393667:F522L	ENSP00000393667:F522L	F	-	3	2	FAM126B	201554265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.479000	0.66813	0.835000	0.34877	-0.150000	0.13652	TTC	FAM126B	-	NULL		0.483	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	G	NM_173822		201846020	-1	no_errors	ENST00000418596	ensembl	human	known	70_37	missense	SNP	1.000	C	C	201846020	G	C	201846020	3	2	92	1	0	0	0	0	1	0	0	0	5445	1281	45	1	30	1	FAM126B	2	201846020	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	22410735	201846020	41353353	15	13234										
ULK4	54986	genome.wustl.edu	37	chr3	41504718	41504718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cagtgtggcagtttcagtgaGcaggttacagatgtgactga	14	6	1	4			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:41504718G>C	ENST00000301831.4	-	33	3715	c.3253C>G	c.(3253-3255)Ctc>Gtc	p.L1085V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1085					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTTTCAGTGAGCAGGTTACAG	0.403																																																	0													158	147	150					3																	41504718		1970	4166	6136	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3253C>G	3.37:g.41504718G>C	ENSP00000301831:p.Leu1085Val		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1085V	ENST00000301831.4	37	c.3253	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579708	0.28180	.	.	ENSG00000168038	ENST00000301831	T	0.73258	-0.73	4.75	3.59	0.41128	Armadillo-like helical (1);Armadillo-type fold (1);	0.545910	0.13000	U	0.421745	T	0.49643	0.1569	N	0.24115	0.695	0.80722	D	1	P	0.36144	0.539	B	0.31101	0.124	T	0.48163	-0.9059	10	0.59425	D	0.04	.	2.74	0.05251	0.5492:0.0:0.2597:0.1911	.	1085	Q96C45	ULK4_HUMAN	V	1085	ENSP00000301831:L1085V	ENSP00000301831:L1085V	L	-	1	0	ULK4	41479722	0.999000	0.42202	1.000000	0.80357	0.938000	0.57974	1.724000	0.38064	0.681000	0.31386	-0.339000	0.08088	CTC	ULK4	-	superfamily_ARM-type_fold		0.403	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	G	XM_929989		41504718	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	0.993	C	C	41504718	G	C	41504718	3	2	92	1	0	0	0	0	1	0	0	0	17009	971	34	4	594	4	ULK4	3	41504718	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		41504718	156517712	16	13235										
DNAH12	201625	genome.wustl.edu	37	chr3	57493377	57493377	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	aaagtgtatgtacctgatttGacataagtgtggaaacacag	10	5	0	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:57493377G>C	ENST00000351747.2	-	8	1070	c.890C>G	c.(889-891)tCa>tGa	p.S297*	DNAH12_ENST00000311202.6_Nonsense_Mutation_p.S297*|DNAH12_ENST00000389536.4_Nonsense_Mutation_p.S297*	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	297	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACCTGATTTGACATAAGTGT	0.274																																																	0													87	81	83					3																	57493377		2203	4300	6503	SO:0001587	stop_gained	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.890C>G	3.37:g.57493377G>C	ENSP00000295937:p.Ser297*		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S297*	ENST00000351747.2	37	c.890		3	.	.	.	.	.	.	.	.	.	.	G	38	6.878633	0.97904	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	.	.	.	5.22	5.22	0.72569	.	0.106361	0.36519	N	0.002544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7663	0.91874	0.0:0.0:1.0:0.0	.	.	.	.	X	297	.	ENSP00000312554:S297X	S	-	2	0	DNAH12	57468417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.219000	0.72231	2.414000	0.81942	0.561000	0.74099	TCA	DNAH12	-	NULL		0.274	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		G	NM_178504		57493377	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	57493377	G	C	57493377	4	2	92	1	0	0	0	0	0	1	0	0	4610	1294	45	1	8639	1	DNAH12	3	57493377	Nonsense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	15988659	57493377	140529053	17	13236										
ROBO1	6091	genome.wustl.edu	37	chr3	78676546	78676546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tgggctggagttcttcctgtGgggagggagtcagagtggca	19	6	2	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:78676546G>T	ENST00000464233.1	-	26	3913	c.3800C>A	c.(3799-3801)cCa>cAa	p.P1267Q	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1222Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1167Q|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1228Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1267					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTTCCTGTGGGGAGGGAGT	0.577																																																	0													51	60	57					3																	78676546		2169	4269	6438	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3800C>A	3.37:g.78676546G>T	ENSP00000420321:p.Pro1267Gln		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1267Q	ENST00000464233.1	37	c.3800	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413683	0.62511	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	0.06;0.04;0.06;-0.03	5.29	4.4	0.53042	.	0.049366	0.85682	D	0.000000	T	0.67439	0.2893	L	0.32530	0.975	0.58432	D	0.999998	B;D;D;D;P	0.69078	0.354;0.985;0.99;0.997;0.876	B;P;P;D;P	0.63597	0.403;0.84;0.854;0.916;0.646	T	0.66064	-0.6016	9	.	.	.	.	15.5728	0.76354	0.0:0.0:0.8609:0.139	.	1231;1267;1222;1167;1228	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Q	1228;1222;1267;1222;1167;1271	ENSP00000406043:P1228Q;ENSP00000420321:P1267Q;ENSP00000420637:P1222Q;ENSP00000417992:P1167Q	.	P	-	2	0	ROBO1	78759236	1.000000	0.71417	0.807000	0.32361	0.235000	0.25334	7.818000	0.86416	1.340000	0.45581	-0.314000	0.08810	CCA	ROBO1	-	NULL		0.577	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78676546	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	0.998	T	T	78676546	G	T	78676546	3	4	92	1	0	0	0	0	1	0	0	0	13543	1348	47	4	1179	4	ROBO1	3	78676546	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	21183169	78676546	119345884	18	13237										
ADPRH	141	genome.wustl.edu	37	chr3	119301229	119301229	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gaagctcttgtggaagctggGaaagcccctaagttgactca	12	9	2	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:119301229G>T	ENST00000478399.1	+	2	1618	c.213G>T	c.(211-213)ggG>ggT	p.G71G	ADPRH_ENST00000357003.3_Silent_p.G71G|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000478927.1_Silent_p.G71G|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000465513.1_Silent_p.G71G			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	71					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGGAAGCTGGGAAAGCCCCTA	0.557																																					GBM(133;579 1804 5989 9967 40052)												0													95	86	89					3																	119301229		2203	4300	6503	SO:0001819	synonymous_variant	141			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.213G>T	3.37:g.119301229G>T			B2R8H1|D3DN83	Silent	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.G71	ENST00000478399.1	37	c.213	CCDS2990.1	3																																																																																			ADPRH	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro		0.557	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRH	HGNC	protein_coding	OTTHUMT00000355199.1	G	NM_001125		119301229	1	no_errors	ENST00000357003	ensembl	human	known	70_37	silent	SNP	0.003	T	T	119301229	G	T	119301229	2	4	92	1	0	0	0	0	0	0	0	1	331	1161	41	3		3	ADPRH	3	119301229	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	40624683	119301229	78721201	19	13238										
LPP	4026	genome.wustl.edu	37	chr3	188327575	188327575	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tatccagtcactggtcccaaGaagacctatatcacagatcc	6	13	2	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:188327575G>A	ENST00000312675.4	+	6	1302	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	LPP_ENST00000543006.1_Silent_p.K352K|LPP_ENST00000448637.1_Silent_p.K352K|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	352	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGGTCCCAAGAAGACCTATA	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0													41	42	42					3																	188327575		2202	4293	6495	SO:0001819	synonymous_variant	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1056G>A	3.37:g.188327575G>A			A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K352	ENST00000312675.4	37	c.1056	CCDS3291.1	3																																																																																			LPP	-	NULL		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	G	NM_005578		188327575	1	no_errors	ENST00000312675	ensembl	human	known	70_37	silent	SNP	1.000	A	A	188327575	G	A	188327575	2	1	92	1	0	0	0	0	0	0	0	1	8946	933	33	1		1	LPP	3	188327575	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	69026346	188327575	9694855	20	13239										
LRRC15	131578	genome.wustl.edu	37	chr3	194080554	194080554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ccccaggtgatcgaagatgcCgaggggcaagttctccagct	13	12	1	2	rs376713863		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:194080554C>T	ENST00000347624.3	-	2	1304	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	LRRC15_ENST00000439944.2_Missense_Mutation_p.G413S|LRRC15_ENST00000428839.1_Missense_Mutation_p.G413S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	407					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCGAAGATGCCGAGGGGCAAG	0.572																																																	0								C	SER/GLY,SER/GLY	0,4406		0,0,2203	47	44	45		1237,1219	5.2	1	3		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	413/588,407/582	194080554	1,13005	2203	4300	6503	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1219G>A	3.37:g.194080554C>T	ENSP00000306276:p.Gly407Ser		Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G413S	ENST00000347624.3	37	c.1237	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001799	0.74932	0.0	1.16E-4	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58940	0.3;0.3;0.3	5.2	5.2	0.72013	.	0.079119	0.53938	D	0.000060	T	0.67135	0.2861	L	0.47190	1.495	0.47949	D	0.999555	D;D	0.69078	0.997;0.997	P;P	0.61328	0.887;0.803	T	0.60156	-0.7318	10	0.19147	T	0.46	.	19.1087	0.93309	0.0:1.0:0.0:0.0	.	407;413	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	S	407;413;413	ENSP00000306276:G407S;ENSP00000389128:G413S;ENSP00000413707:G413S	ENSP00000306276:G407S	G	-	1	0	LRRC15	195561849	0.992000	0.36948	0.988000	0.46212	0.980000	0.70556	4.002000	0.57053	2.603000	0.88011	0.655000	0.94253	GGC	LRRC15	-	smart_Leu-rich_rpt_typical-subtyp		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	C			194080554	-1	no_errors	ENST00000439944	ensembl	human	known	70_37	missense	SNP	0.999	T	T	194080554	C	T	194080554	3	4	92	1	0	0	0	0	1	0	0	0	8993	652	23	2	530	2	LRRC15	3	194080554	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	5752979	194080554	3941876	21	13240										
SEPSECS	51091	genome.wustl.edu	37	chr4	25125674	25125674	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tctctttacttcgttcttttCttactgcctttaaacacctg	3	12	3	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:25125674C>G	ENST00000382103.2	-	11	1457	c.1385G>C	c.(1384-1386)aGa>aCa	p.R462T	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Missense_Mutation_p.R383T	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	462					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TCGTTCTTTTCTTACTGCCTT	0.383																																																	0													237	206	216					4																	25125674		2203	4300	6503	SO:0001583	missense	51091			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1385G>C	4.37:g.25125674C>G	ENSP00000371535:p.Arg462Thr		A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Sec-tRNA_Se_transferase	p.R462T	ENST00000382103.2	37	c.1385	CCDS3432.2	4	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696635	0.48202	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82984	-1.67;-1.67	5.53	3.81	0.43845	Pyridoxal phosphate-dependent transferase, major domain (1);	0.256900	0.45867	D	0.000329	T	0.63896	0.2550	N	0.14661	0.345	0.42064	D	0.991179	P;B;B	0.38129	0.619;0.32;0.132	B;B;B	0.22880	0.042;0.012;0.013	T	0.63625	-0.6595	10	0.48119	T	0.1	-22.4081	10.3864	0.44143	0.0:0.8489:0.0:0.1511	.	461;402;462	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	T	383;462	ENSP00000305956:R383T;ENSP00000371535:R462T	ENSP00000305956:R383T	R	-	2	0	SEPSECS	24734772	0.913000	0.31002	0.972000	0.41901	0.976000	0.68499	1.632000	0.37102	0.694000	0.31654	0.591000	0.81541	AGA	SEPSECS	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.383	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPSECS	HGNC	protein_coding	OTTHUMT00000250414.2	C	NM_016955		25125674	-1	no_errors	ENST00000382103	ensembl	human	known	70_37	missense	SNP	0.996	G	G	25125674	C	G	25125674	3	3	92	1	0	0	0	0	1	0	0	0	14088	913	32	1	124	1	SEPSECS	4	25125674	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		25125674	166028602	22	13241										
ANXA5	308	genome.wustl.edu	37	chr4	122605888	122605888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ctggcgctgagcattacttcGggatgtcaacagagtcagga	13	9	2	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:122605888G>A	ENST00000296511.5	-	4	418	c.133C>T	c.(133-135)Cga>Tga	p.R45*	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	45					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GCATTACTTCGGGATGTCAAC	0.458																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													187	160	169					4																	122605888		2203	4300	6503	SO:0001587	stop_gained	308			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.133C>T	4.37:g.122605888G>A	ENSP00000296511:p.Arg45*		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Nonsense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.R45*	ENST00000296511.5	37	c.133	CCDS3720.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.974695	0.97162	.	.	ENSG00000164111	ENST00000296511;ENST00000512232	.	.	.	6.06	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6866	0.56952	0.0:0.0:0.5919:0.4081	.	.	.	.	X	45	.	ENSP00000296511:R45X	R	-	1	2	ANXA5	122825338	1.000000	0.71417	0.902000	0.35471	0.974000	0.67602	3.139000	0.50577	1.523000	0.49018	0.655000	0.94253	CGA	ANXA5	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV		0.458	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	G	NM_001154		122605888	-1	no_errors	ENST00000296511	ensembl	human	known	70_37	nonsense	SNP	0.958	A	A	122605888	G	A	122605888	4	1	92	1	0	0	0	0	0	1	0	0	721	1124	39	2	869	2	ANXA5	4	122605888	Nonsense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	97480214	122605888	68548388	23	13242										
FAT1	2195	genome.wustl.edu	37	chr4	187527311	187527311	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	atgttcacggtcgtcgtgttGactctgggtggactgccatt	13	9	2	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:187527311G>A	ENST00000441802.2	-	17	10472	c.10263C>T	c.(10261-10263)gtC>gtT	p.V3421V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3421	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTCGTGTTGACTCTGGGTG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													130	128	129					4																	187527311		2013	4186	6199	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10263C>T	4.37:g.187527311G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3421	ENST00000441802.2	37	c.10263	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187527311	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	silent	SNP	0.979	A	A	187527311	G	A	187527311	2	1	92	1	0	0	0	0	0	0	0	1	5707	1277	45	1		1	FAT1	4	187527311	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	64921423	187527311	3626965	24	13243										
OSMR	9180	genome.wustl.edu	37	chr5	38884119	38884119	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gcattcaacttgaatagtgtGcctttcattaggaataaagg	9	6	2	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:38884119G>T	ENST00000274276.3	+	5	1011	c.609G>T	c.(607-609)gtG>gtT	p.V203V	OSMR_ENST00000502536.1_Silent_p.V203V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	203					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGAATAGTGTGCCTTTCATTA	0.368																																																	0													163	152	156					5																	38884119		2203	4300	6503	SO:0001819	synonymous_variant	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.609G>T	5.37:g.38884119G>T			Q6P4E8|Q96QJ6	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V203	ENST00000274276.3	37	c.609	CCDS3928.1	5																																																																																			OSMR	-	NULL		0.368	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	G	NM_003999		38884119	1	no_errors	ENST00000274276	ensembl	human	known	70_37	silent	SNP	0.000	T	T	38884119	G	T	38884119	2	4	92	1	0	0	0	0	0	0	0	1	11316	1306	46	4		4	OSMR	5	38884119	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		38884119	142031141	25	13244										
CDO1	1036	genome.wustl.edu	37	chr5	115146870	115146870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gatgttaccattgatgtaggCacactggttttccctcaaga	9	9	1	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:115146870C>A	ENST00000250535.4	-	3	947	c.391G>T	c.(391-393)Gcc>Tcc	p.A131S	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	131					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TTGATGTAGGCACACTGGTTT	0.388																																																	0													243	235	238					5																	115146870		2202	4300	6502	SO:0001583	missense	1036				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"cysteine dioxygenase, type I"			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.391G>T	5.37:g.115146870C>A	ENSP00000250535:p.Ala131Ser		B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.A131S	ENST00000250535.4	37	c.391	CCDS4121.1	5	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540683	0.85917	.	.	ENSG00000129596	ENST00000250535	T	0.44881	0.91	6.03	6.03	0.97812	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.095910	0.64402	D	0.000001	T	0.60038	0.2238	L	0.60067	1.865	0.80722	D	1	P	0.37985	0.613	P	0.55112	0.769	T	0.42766	-0.9432	10	0.23891	T	0.37	-16.6818	20.1519	0.98089	0.0:1.0:0.0:0.0	.	131	Q16878	CDO1_HUMAN	S	131	ENSP00000250535:A131S	ENSP00000250535:A131S	A	-	1	0	CDO1	115174769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	2.861000	0.98227	0.655000	0.94253	GCC	CDO1	-	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin		0.388	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	C	NM_001801		115146870	-1	no_errors	ENST00000250535	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115146870	C	A	115146870	3	1	92	1	0	0	0	0	1	0	0	0	3174	710	25	4	223	4	CDO1	5	115146870	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	76262751	115146870	65768390	26	13245										
SLC6A7	6534	genome.wustl.edu	37	chr5	149583497	149583497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ttctggagaccattgtgacaGctgtgacagatgagttccca	11	9	1	5			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:149583497G>T	ENST00000230671.2	+	10	1599	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A410S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	410					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATTGTGACAGCTGTGACAGA	0.547																																																	0													97	73	81					5																	149583497		2203	4300	6503	SO:0001583	missense	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1228G>T	5.37:g.149583497G>T	ENSP00000230671:p.Ala410Ser		Q0VG81|Q52LU6	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A410S	ENST00000230671.2	37	c.1228	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345948	0.61073	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76839	-1.05;-1.05	5.04	3.16	0.36331	.	0.099525	0.64402	N	0.000002	T	0.73598	0.3607	L	0.48362	1.52	0.50813	D	0.999897	P	0.41366	0.747	P	0.44647	0.456	T	0.68534	-0.5383	10	0.35671	T	0.21	.	11.3782	0.49741	0.0:0.1374:0.7197:0.1429	.	410	Q99884	SC6A7_HUMAN	S	410	ENSP00000230671:A410S;ENSP00000428200:A410S	ENSP00000230671:A410S	A	+	1	0	SLC6A7	149563690	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	4.494000	0.60347	0.451000	0.26802	0.561000	0.74099	GCT	SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.547	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	G	NM_014228		149583497	1	no_errors	ENST00000230671	ensembl	human	known	70_37	missense	SNP	0.978	T	T	149583497	G	T	149583497	3	4	92	1	0	0	0	0	1	0	0	0	14719	971	34	4	1266	4	SLC6A7	5	149583497	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	34436627	149583497	31331763	27	13246										
KIAA0319	9856	genome.wustl.edu	37	chr6	24559315	24559315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	agagccgcatgtgcagatttCgggccacttcagcagctttg	12	11	1	2	rs150777675		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:24559315C>T	ENST00000378214.3	-	17	3184	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	KIAA0319_ENST00000535378.1_Missense_Mutation_p.R878Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R842Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R887Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R887Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	887					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGCAGATTTCGGGCCACTTC	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		19027	0		0	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	72	64	67		2633,2660,2525,2660,2660	0.1	0	6	dbSNP_134	67	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	878/1064,887/1073,842/1028,887/1012,887/1073	24559315	1,13005	2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2660G>A	6.37:g.24559315C>T	ENSP00000367459:p.Arg887Gln		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.R887Q	ENST00000378214.3	37	c.2660	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859192	0.17178	2.27E-4	0.0	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06687	3.27;3.28;3.28;3.28;3.28	3.94	0.114	0.14639	.	0.893051	0.09713	N	0.765469	T	0.01387	0.0045	N	0.21282	0.65	0.20307	N	0.999916	B;B;B	0.25809	0.068;0.135;0.083	B;B;B	0.17979	0.007;0.02;0.005	T	0.47446	-0.9117	10	0.12766	T	0.61	-1.5742	8.6484	0.34020	0.0:0.5097:0.0:0.4903	.	887;878;887	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	887;878;842;887;887	ENSP00000439700:R887Q;ENSP00000442403:R878Q;ENSP00000401086:R842Q;ENSP00000367459:R887Q;ENSP00000437656:R887Q	ENSP00000367459:R887Q	R	-	2	0	KIAA0319	24667294	0.009000	0.17119	0.030000	0.17652	0.995000	0.86356	0.097000	0.15168	0.105000	0.17753	0.650000	0.86243	CGA	KIAA0319	-	NULL		0.488	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	C	NM_014809		24559315	-1	no_errors	ENST00000378214	ensembl	human	known	70_37	missense	SNP	0.024	T	T	24559315	C	T	24559315	3	4	92	1	0	0	0	0	1	0	0	0	8188	884	31	1	578	1	KIAA0319	6	24559315	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		24559315	146555752	28	13247										
NKAPL	222698	genome.wustl.edu	37	chr6	28227227	28227227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cgacgcagctcctcggggagCccaccatccccgcagagcag	12	18	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:28227227C>T	ENST00000343684.3	+	1	130	c.78C>T	c.(76-78)agC>agT	p.S26S	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	26										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCTCGGGGAGCCCACCATCCC	0.667																																																	0													35	34	34					6																	28227227		2203	4300	6503	SO:0001819	synonymous_variant	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.78C>T	6.37:g.28227227C>T			Q3MIV1|Q9H4Q7	Silent	SNP	pfam_DUF926	p.S26	ENST00000343684.3	37	c.78	CCDS34353.1	6																																																																																			NKAPL	-	NULL		0.667	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	C			28227227	1	no_errors	ENST00000343684	ensembl	human	known	70_37	silent	SNP	0.781	T	T	28227227	C	T	28227227	2	4	92	1	0	0	0	0	0	0	0	1	10464	738	26	4		4	NKAPL	6	28227227	Silent	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	3667912	28227227	142887840	29	13248										
LCA5	167691	genome.wustl.edu	37	chr6	80198894	80198894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cataattgggtttagaatccCtgcttctccatgcctgtctt	7	11	2	1	rs201814494	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:80198894C>A	ENST00000392959.1	-	8	1749	c.1138G>T	c.(1138-1140)Ggg>Tgg	p.G380W	LCA5_ENST00000369846.4_Missense_Mutation_p.G380W|LCA5_ENST00000467898.3_Missense_Mutation_p.G380W	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	380					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTAGAATCCCTGCTTCTCCA	0.373																																																	0													148	137	141					6																	80198894		2202	4299	6501	SO:0001583	missense	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1138G>T	6.37:g.80198894C>A	ENSP00000376686:p.Gly380Trp		E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.G380W	ENST00000392959.1	37	c.1138	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966562	0.34659	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.32023	1.47;1.47	5.24	3.42	0.39159	.	1.401080	0.03868	N	0.275100	T	0.20820	0.0501	L	0.40543	1.245	0.24470	N	0.994398	D	0.63046	0.992	P	0.50192	0.634	T	0.27020	-1.0086	10	0.66056	D	0.02	0.4529	9.8119	0.40828	0.0:0.7817:0.1407:0.0776	.	380	Q86VQ0	LCA5_HUMAN	W	380	ENSP00000358861:G380W;ENSP00000376686:G380W	ENSP00000358861:G380W	G	-	1	0	LCA5	80255613	0.146000	0.22672	0.352000	0.25734	0.093000	0.18481	0.425000	0.21346	0.669000	0.31146	-0.140000	0.14226	GGG	LCA5	-	NULL		0.373	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	C	NM_181714		80198894	-1	no_errors	ENST00000369846	ensembl	human	known	70_37	missense	SNP	0.895	A	A	80198894	C	A	80198894	3	1	92	1	0	0	0	0	1	0	0	0	8676	681	24	4	963	4	LCA5	6	80198894	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	51971667	80198894	90916173	30	13249										
TMEM196	256130	genome.wustl.edu	37	chr7	19765158	19765158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ttctcagccatttcatgagaGtgatgcagggaatgctccct	10	10	2	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:19765158G>T	ENST00000405764.3	-	3	1134	c.438C>A	c.(436-438)caC>caA	p.H146Q	TMEM196_ENST00000433641.1_Missense_Mutation_p.H78Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.H78Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.H78Q|TMEM196_ENST00000405844.1_Missense_Mutation_p.H146Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	152						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						TTTCATGAGAGTGATGCAGGG	0.478																																																	0													65	61	62					7																	19765158		2203	4300	6503	SO:0001583	missense	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.438C>A	7.37:g.19765158G>T	ENSP00000384234:p.His146Gln		Q8N6I6	Missense_Mutation	SNP	NULL	p.H146Q	ENST00000405764.3	37	c.438	CCDS34607.2	7	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655946	0.47467	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	0.195	0.15151	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.29908	0.895	0.58432	D	0.999997	D	0.53462	0.96	D	0.66497	0.944	T	0.60880	-0.7175	9	0.87932	D	0	2.9357	11.8332	0.52307	0.4006:0.0:0.5994:0.0	.	146	Q5HYL7-4	.	Q	146;146;78;78;78	.	ENSP00000384234:H146Q	H	-	3	2	TMEM196	19731683	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	1.277000	0.33167	0.077000	0.16863	-0.794000	0.03295	CAC	TMEM196	-	NULL		0.478	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1	G	NM_152774		19765158	-1	no_errors	ENST00000405764	ensembl	human	known	70_37	missense	SNP	0.998	T	T	19765158	G	T	19765158	3	4	92	1	0	0	0	0	1	0	0	0	16148	1020	36	4	88	4	TMEM196	7	19765158	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		19765158	139373505	31	13250										
AGFG2	3268	genome.wustl.edu	37	chr7	100137181	100137181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cttcgtgtgcaccacctgctCcggcctcctgtgagtgaccg	11	16	0	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:100137181C>T	ENST00000300176.4	+	1	334	c.212C>T	c.(211-213)tCc>tTc	p.S71F	AGFG2_ENST00000262935.4_Missense_Mutation_p.S71F	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	71	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCACCTGCTCCGGCCTCCTG	0.746																																																	0													10	9	10					7																	100137181		2126	4136	6262	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.212C>T	7.37:g.100137181C>T	ENSP00000300176:p.Ser71Phe		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S71F	ENST00000300176.4	37	c.212	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.322086	0.95708	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.56275	0.47;0.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	H	0.95539	3.685	0.51012	D	0.999909	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85988	0.1487	10	0.87932	D	0	-23.6918	15.0468	0.71833	0.0:1.0:0.0:0.0	.	71;71	O95081-2;O95081	.;AGFG2_HUMAN	F	71	ENSP00000300176:S71F;ENSP00000262935:S71F	ENSP00000262935:S71F	S	+	2	0	AGFG2	99975117	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.006000	0.76329	2.624000	0.88883	0.456000	0.33151	TCC	AGFG2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.746	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	C	NM_006076		100137181	1	no_errors	ENST00000300176	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100137181	C	T	100137181	3	4	92	1	0	0	0	0	1	0	0	0	381	855	30	1	214	1	AGFG2	7	100137181	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	80372023	100137181	59001482	32	13251										
ABCF2	10061	genome.wustl.edu	37	chr7	150918700	150918700	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ttcttgttgtgcatgtgaatGatattggtacagacaccatt	9	6	1	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:150918700G>A	ENST00000287844.2	-	7	994	c.885C>T	c.(883-885)atC>atT	p.I295I	ABCF2_ENST00000222388.2_Silent_p.I295I|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	295	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATGTGAATGATATTGGTAC	0.418																																																	0													242	246	245					7																	150918700		2203	4300	6503	SO:0001819	synonymous_variant	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.885C>T	7.37:g.150918700G>A			O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I295	ENST00000287844.2	37	c.885	CCDS5923.1	7																																																																																			ABCF2	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.418	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	G	NM_005692		150918700	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150918700	G	A	150918700	2	1	92	1	0	0	0	0	0	0	0	1	66	1280	45	1		1	ABCF2	7	150918700	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	50781519	150918700	8219963	33	13252										
IDO1	3620	genome.wustl.edu	37	chr8	39775486	39775486	+	Frame_Shift_Del	DEL	G	G	-													0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cagcttcgagaaagagttgaGaaggtttgacatatgtatta							TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr8:39775486delG	ENST00000518237.1	+	2	819	c.180delG	c.(178-180)gagfs	p.E60fs	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Frame_Shift_Del_p.E60fs|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	60					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AAAGAGTTGAGAAGGTTTGAC	0.338																																																	0													85	81	82					8																	39775486		1870	4107	5977	SO:0001589	frameshift_variant	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.180delG	8.37:g.39775486delG	ENSP00000430950:p.Glu60fs		Q540B4	Frame_Shift_Del	DEL	pfam_Indolamine_dOase	p.K61fs	ENST00000518237.1	37	c.180	CCDS47847.1	8																																																																																			IDO1	-	pfam_Indolamine_dOase		0.338	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1	G	NM_002164		39775486	1	no_errors	ENST00000518237	ensembl	human	known	70_37	frame_shift_del	DEL	0.937	-	-	39775486	G	-	39775486	7	5	92	1	0	1	0	1	0	0	0	0	7521	933	33	0	186	0	IDO1	8	39775486	Frame_Shift_Del	DEL	G	TCGA-EA-A78R-01A-11D-A32I-09		39775486	106588536	34	13253										
FBXO43	286151	genome.wustl.edu	37	chr8	101146590	101146590	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tcctcgacatttaatacagcCccctgtggtaaaggacaaga	8	11	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr8:101146590C>A	ENST00000428847.2	-	4	1993	c.1677G>T	c.(1675-1677)ggG>ggT	p.G559G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	559					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTAATACAGCCCCCTGTGGTA	0.458																																																	0													66	67	67					8																	101146590		1909	4131	6040	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1677G>T	8.37:g.101146590C>A				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.G559	ENST00000428847.2	37	c.1677	CCDS47904.1	8																																																																																			FBXO43	-	NULL		0.458	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	C	XM_209918		101146590	-1	no_errors	ENST00000428847	ensembl	human	known	70_37	silent	SNP	0.765	A	A	101146590	C	A	101146590	2	1	92	1	0	0	0	0	0	0	0	1	5770	610	22	4		4	FBXO43	8	101146590	Silent	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	61371104	101146590	45217432	35	13254										
VPS13A	23230	genome.wustl.edu	37	chr9	79897050	79897050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tctttaggtaaatttttcctCtttggatattcatttacaca	4	7	3	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:79897050C>T	ENST00000360280.3	+	29	3238	c.2978C>T	c.(2977-2979)tCt>tTt	p.S993F	VPS13A_ENST00000376634.4_Missense_Mutation_p.S993F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S993F|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.S993F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	993					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AATTTTTCCTCTTTGGATATT	0.363																																																	0													77	82	80					9																	79897050		2203	4296	6499	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2978C>T	9.37:g.79897050C>T	ENSP00000353422:p.Ser993Phe		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S993F	ENST00000360280.3	37	c.2978	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150292	0.78001	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.994;0.994	T	0.52823	-0.8524	10	0.72032	D	0.01	.	18.0698	0.89403	0.0:1.0:0.0:0.0	.	993;993;993;993	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	993	ENSP00000365821:S993F;ENSP00000365823:S993F;ENSP00000353422:S993F;ENSP00000349985:S993F	ENSP00000349985:S993F	S	+	2	0	VPS13A	79086870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.249000	0.72427	2.363000	0.80096	0.563000	0.77884	TCT	VPS13A	-	NULL		0.363	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	C	NM_015186		79897050	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79897050	C	T	79897050	3	4	92	1	0	0	0	0	1	0	0	0	17220	913	32	1	3092	1	VPS13A	9	79897050	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		79897050	61316381	36	13255										
WDR38	401551	genome.wustl.edu	37	chr9	127618159	127618159	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggtcaccaacggagtgtggaGacggtcagcttcagccctga	14	11	3	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:127618159G>A	ENST00000373574.1	+	4	383	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	109					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGAGTGTGGAGACGGTCAGCT	0.627											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													92	101	98					9																	127618159		2131	4241	6372	SO:0001819	synonymous_variant	401551				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"WD repeat domain containing"	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.327G>A	9.37:g.127618159G>A		1558	A0PK24	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E109	ENST00000373574.1	37	c.327	CCDS43876.1	9																																																																																			WDR38	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.627	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR38	HGNC	protein_coding	OTTHUMT00000054048.1	G	NM_001045476		127618159	1	no_errors	ENST00000373574	ensembl	human	known	70_37	silent	SNP	1.000	A	A	127618159	G	A	127618159	2	1	92	1	0	0	0	0	0	0	0	1	17323	933	33	1		1	WDR38	9	127618159	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	47721109	127618159	13595272	37	13256										
RABEPK	10244	genome.wustl.edu	37	chr9	127990332	127990332	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	atgatgacctccactgcattGatataagtaagcagggcatg	10	8	0	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:127990332G>C	ENST00000373538.3	+	6	980	c.670G>C	c.(670-672)Gat>Cat	p.D224H	RABEPK_ENST00000394125.4_Missense_Mutation_p.D224H|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.D173H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	224					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CCACTGCATTGATATAAGTAA	0.453																																																	0													47	48	48					9																	127990332		2203	4300	6503	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.670G>C	9.37:g.127990332G>C	ENSP00000362639:p.Asp224His		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.D224H	ENST00000373538.3	37	c.670	CCDS6862.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317991	0.81469	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.77098	-1.07;-1.07;-1.07	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.185893	0.56097	D	0.000023	D	0.90086	0.6903	M	0.93678	3.445	0.80722	D	1	D;D;D	0.63880	0.984;0.993;0.984	P;P;P	0.60117	0.842;0.869;0.842	D	0.92385	0.5916	10	0.72032	D	0.01	-10.0124	17.9158	0.88950	0.0:0.0:1.0:0.0	.	224;173;224	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	H	224;173;224	ENSP00000377683:D224H;ENSP00000259460:D173H;ENSP00000362639:D224H	ENSP00000259460:D173H	D	+	1	0	RABEPK	127030153	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.084000	0.76866	2.711000	0.92665	0.632000	0.83419	GAT	RABEPK	-	pfam_Kelch_1		0.453	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	G	NM_005833		127990332	1	no_errors	ENST00000373538	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127990332	G	C	127990332	3	2	92	1	0	0	0	0	1	0	0	0	12993	1290	45	1	688	1	RABEPK	9	127990332	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	372173	127990332	13223099	38	13257										
TPRN	286262	genome.wustl.edu	37	chr9	140094220	140094220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tggccagcgcccgggcctggAggtcccccaaggggatggtc	17	14	0	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:140094220A>G	ENST00000409012.4	-	1	1030	c.944T>C	c.(943-945)cTc>cCc	p.L315P	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.L254P	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	315					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGGCCTGGAGGTCCCCCAA	0.657																																																	0													8	10	10					9																	140094220		2142	4219	6361	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.944T>C	9.37:g.140094220A>G	ENSP00000387100:p.Leu315Pro		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.L315P	ENST00000409012.4	37	c.944	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781913	0.31502	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.18	2.01	0.26516	.	0.467922	0.20511	N	0.090892	T	0.54481	0.1861	M	0.61703	1.905	0.53005	D	0.999963	B	0.14805	0.011	B	0.11329	0.006	T	0.52525	-0.8564	9	0.66056	D	0.02	.	6.414	0.21705	0.8717:0.0:0.1283:0.0	.	315	Q4KMQ1	TPRN_HUMAN	P	113;315;254	.	ENSP00000313704:L254P	L	-	2	0	TPRN	139214041	0.025000	0.19082	0.170000	0.22879	0.982000	0.71751	2.813000	0.48002	0.435000	0.26365	0.374000	0.22700	CTC	TPRN	-	NULL		0.657	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	A	NM_173691		140094220	-1	no_errors	ENST00000409012	ensembl	human	known	70_37	missense	SNP	0.874	G	G	140094220	A	G	140094220	3	3	92	1	0	0	0	0	1	0	0	0	16452	304	11	5	1287	5	TPRN	9	140094220	Missense_Mutation	SNP	A	TCGA-EA-A78R-01A-11D-A32I-09	12103888	140094220	1119211	39	13258										
AKR1C1	1645	genome.wustl.edu	37	chr10	5008127	5008127	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ttcctaaaagtaaagctttaGaggccaccaaattggcaatt	7	8	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:5008127G>C	ENST00000380872.4	+	2	298	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	AKR1C1_ENST00000380859.1_Missense_Mutation_p.E38Q|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.E36Q	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	36					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TAAAGCTTTAGAGGCCACCAA	0.443																																					Colon(130;2054 2316 13360 15380)												0													84	78	80					10																	5008127		2203	4300	6503	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.106G>C	10.37:g.5008127G>C	ENSP00000370254:p.Glu36Gln		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E36Q	ENST00000380872.4	37	c.106	CCDS7061.1	10	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130475	0.37630	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859	T;T;T	0.52983	0.64;0.64;0.64	2.48	1.55	0.23275	NADP-dependent oxidoreductase domain (3);	0.669740	0.12911	N	0.428951	T	0.46678	0.1405	N	0.21617	0.685	0.19775	N	0.999956	D;P;P	0.62365	0.991;0.936;0.936	D;P;P	0.65443	0.935;0.783;0.783	T	0.22836	-1.0205	10	0.34782	T	0.22	.	6.9059	0.24309	0.16:0.0:0.84:0.0	.	36;36;36	B4E0M1;Q2XPP3;Q04828	.;.;AK1C1_HUMAN	Q	36;36;38	ENSP00000412248:E36Q;ENSP00000370254:E36Q;ENSP00000370240:E38Q	ENSP00000370240:E38Q	E	+	1	0	AKR1C1	4998127	0.917000	0.31117	0.089000	0.20774	0.021000	0.10359	2.420000	0.44679	1.388000	0.46506	0.305000	0.20034	GAG	AKR1C1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.443	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	G	NM_001353		5008127	1	no_errors	ENST00000380872	ensembl	human	known	70_37	missense	SNP	0.368	C	C	5008127	G	C	5008127	3	2	92	1	0	0	0	0	1	0	0	0	469	943	33	1	112	1	AKR1C1	10	5008127	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		5008127	130526620	40	13259										
FAM171A1	221061	genome.wustl.edu	37	chr10	15290684	15290684	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gcgacataggcattgtgcctCaggctgctctgcgtggccag	14	12	2	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:15290684C>T	ENST00000378116.4	-	5	714	c.708G>A	c.(706-708)ctG>ctA	p.L236L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	236						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CATTGTGCCTCAGGCTGCTCT	0.577																																																	0													90	81	84					10																	15290684		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.708G>A	10.37:g.15290684C>T			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.L236	ENST00000378116.4	37	c.708	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.577	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15290684	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15290684	C	T	15290684	2	4	92	1	0	0	0	0	0	0	0	1	5505	813	29	1		1	FAM171A1	10	15290684	Silent	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	10282557	15290684	120244063	41	13260										
TET1	80312	genome.wustl.edu	37	chr10	70405157	70405157	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggagattaacattggagcaaGtggtagccatagaggccctg	14	7	0	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:70405157G>T	ENST00000373644.4	+	4	2880	c.2671G>T	c.(2671-2673)Gtg>Ttg	p.V891L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	891					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGAGCAAGTGGTAGCCAT	0.443																																																	0													104	110	108					10																	70405157		2203	4299	6502	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2671G>T	10.37:g.70405157G>T	ENSP00000362748:p.Val891Leu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.V891L	ENST00000373644.4	37	c.2671	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956062	0.53293	.	.	ENSG00000138336	ENST00000373644	T	0.11712	2.75	5.79	3.88	0.44766	.	0.330237	0.23056	N	0.052428	T	0.08313	0.0207	L	0.34521	1.04	0.31510	N	0.663697	B	0.27498	0.18	B	0.20577	0.03	T	0.07290	-1.0780	10	0.46703	T	0.11	.	8.6183	0.33845	0.0785:0.0:0.7719:0.1495	.	891	Q8NFU7	TET1_HUMAN	L	891	ENSP00000362748:V891L	ENSP00000362748:V891L	V	+	1	0	TET1	70075163	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.780000	0.47742	0.745000	0.32763	0.557000	0.71058	GTG	TET1	-	NULL		0.443	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70405157	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70405157	G	T	70405157	3	4	92	1	0	0	0	0	1	0	0	0	15799	1029	36	4	2681	4	TET1	10	70405157	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	55114473	70405157	65129590	42	13261										
MAT1A	4143	genome.wustl.edu	37	chr10	82034850	82034850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggcagcatatgcagctgagcGgtctaccttggtgtagtcct	13	10	1	1	rs372852106		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:82034850G>A	ENST00000372213.3	-	7	1134	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	292					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCAGCTGAGCGGTCTACCTTG	0.617																																																	0													37	37	37					10																	82034850		2201	4298	6499	SO:0001583	missense	4143				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.874C>T	10.37:g.82034850G>A	ENSP00000361287:p.Arg292Cys		D3DWD5|Q5QP09	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.R292C	ENST00000372213.3	37	c.874	CCDS7365.1	10	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672492	0.88348	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.99158	-5.5	4.99	4.99	0.66335	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97700	1.0184	10	0.87932	D	0	-26.8382	16.1234	0.81377	0.0:0.0:1.0:0.0	.	292	Q00266	METK1_HUMAN	C	292	ENSP00000361287:R292C	ENSP00000361280:R292C	R	-	1	0	MAT1A	82024830	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.589000	0.82641	2.484000	0.83849	0.563000	0.77884	CGC	MAT1A	-	pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase		0.617	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT1A	HGNC	protein_coding	OTTHUMT00000049070.1	G	NM_000429		82034850	-1	no_errors	ENST00000372206	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82034850	G	A	82034850	3	1	92	1	0	0	0	0	1	0	0	0	9352	1116	39	2	325	2	MAT1A	10	82034850	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	11629693	82034850	53499897	43	13262										
WNT8B	7479	genome.wustl.edu	37	chr10	102241723	102241723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	caatgtgggcttcggagaggCgatttccaagcagtttgtcg	14	8	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:102241723C>T	ENST00000343737.5	+	5	550	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	141					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TTCGGAGAGGCGATTTCCAAG	0.602											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122	104	110					10																	102241723		2203	4300	6503	SO:0001583	missense	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.422C>T	10.37:g.102241723C>T	ENSP00000340677:p.Ala141Val	1365	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.A141V	ENST00000343737.5	37	c.422	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714078	0.68730	.	.	ENSG00000075290	ENST00000343737	T	0.76448	-1.02	5.37	5.37	0.77165	.	0.096401	0.64402	D	0.000001	T	0.68044	0.2958	N	0.20685	0.6	0.40016	D	0.97534	B	0.06786	0.001	B	0.08055	0.003	T	0.62604	-0.6819	10	0.42905	T	0.14	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	141	Q93098	WNT8B_HUMAN	V	141	ENSP00000340677:A141V	ENSP00000340677:A141V	A	+	2	0	WNT8B	102231713	0.999000	0.42202	0.996000	0.52242	0.983000	0.72400	3.957000	0.56730	2.682000	0.91365	0.561000	0.74099	GCG	WNT8B	-	pfam_Wnt,smart_Wnt		0.602	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	C	NM_003393		102241723	1	no_errors	ENST00000343737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102241723	C	T	102241723	3	4	92	1	0	0	0	0	1	0	0	0	17428	768	27	2	440	2	WNT8B	10	102241723	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	20206873	102241723	33293024	44	13263										
NRAP	4892	genome.wustl.edu	37	chr10	115383353	115383353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggaatcaagacgcagctcaaAcccttttgctttctggtttt	8	10	3	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:115383353A>C	ENST00000359988.3	-	23	2636	c.2392T>G	c.(2392-2394)Ttt>Gtt	p.F798V	NRAP_ENST00000360478.3_Missense_Mutation_p.F763V|NRAP_ENST00000369360.3_Missense_Mutation_p.F771V|NRAP_ENST00000369358.4_Missense_Mutation_p.F806V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGCAGCTCAAACCCTTTTGCT	0.512																																																	0													161	149	153					10																	115383353		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2392T>G	10.37:g.115383353A>C	ENSP00000353078:p.Phe798Val			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.F806V	ENST00000359988.3	37	c.2416	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528490	0.85706	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16897	2.5;2.51;2.41;2.31	5.87	5.87	0.94306	.	0.096199	0.64402	D	0.000001	T	0.43875	0.1267	M	0.83012	2.62	0.50467	D	0.999873	D;D;D	0.59357	0.985;0.971;0.974	P;P;P	0.61533	0.869;0.89;0.78	T	0.46569	-0.9182	10	0.72032	D	0.01	.	15.9211	0.79575	1.0:0.0:0.0:0.0	.	798;763;798	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	806;771;798;763	ENSP00000358365:F806V;ENSP00000358367:F771V;ENSP00000353078:F798V;ENSP00000353666:F763V	ENSP00000353078:F798V	F	-	1	0	NRAP	115373343	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	6.545000	0.73883	2.243000	0.73865	0.533000	0.62120	TTT	NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	A	NM_006175		115383353	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	0.996	C	C	115383353	A	C	115383353	3	2	92	1	0	0	0	0	1	0	0	0	10662	43	2	5	2880	5	NRAP	10	115383353	Missense_Mutation	SNP	A	TCGA-EA-A78R-01A-11D-A32I-09	13141630	115383353	20151394	45	13264										
IGF2	3481	genome.wustl.edu	37	chr11	2154262	2154262	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gggggggcgcccccgtgggcGgggtcttgggtgggtagagc	24	9	1	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:2154262G>T	ENST00000416167.2	-	4	1664	c.498C>A	c.(496-498)ccC>ccA	p.P166P	IGF2_ENST00000418738.2_Silent_p.P166P|IGF2_ENST00000381395.1_Silent_p.P166P|IGF2_ENST00000434045.2_Silent_p.P222P|IGF2_ENST00000300632.5_Silent_p.P166P|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381389.1_Silent_p.P166P|IGF2_ENST00000381392.1_Silent_p.P169P|IGF2_ENST00000381406.4_Silent_p.P169P			P01344	IGF2_HUMAN	insulin-like growth factor 2	166					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCCCGTGGGCGGGGTCTTGGG	0.677																																																	0													49	62	58					11																	2154262		2201	4299	6500	SO:0001819	synonymous_variant	3481			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.498C>A	11.37:g.2154262G>T			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.P222	ENST00000416167.2	37	c.666	CCDS7728.1	11																																																																																			IGF2	-	pfam_IGF2_C		0.677	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2	HGNC	protein_coding	OTTHUMT00000026053.2	G	NM_000612		2154262	-1	no_errors	ENST00000434045	ensembl	human	known	70_37	silent	SNP	0.097	T	T	2154262	G	T	2154262	2	4	92	1	0	0	0	0	0	0	0	1	7592	1103	39	2		2	IGF2	11	2154262	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		2154262	132852254	46	13265										
LRRC55	219527	genome.wustl.edu	37	chr11	56949990	56949990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tcagggcctcatgcagctccGagacctggacctcagttatg	11	13	3	1	rs374511641		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:56949990G>T	ENST00000497933.1	+	1	770	c.623G>T	c.(622-624)cGa>cTa	p.R208L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	178					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ATGCAGCTCCGAGACCTGGAC	0.647																																																	0													53	53	53					11																	56949990		2201	4296	6497	SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.623G>T	11.37:g.56949990G>T	ENSP00000419542:p.Arg208Leu		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R208L	ENST00000497933.1	37	c.623	CCDS31539.1	11	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156772	0.57259	.	.	ENSG00000183908	ENST00000497933	T	0.02552	4.25	5.91	5.0	0.66597	.	0.000000	0.49916	D	0.000126	T	0.12305	0.0299	M	0.72353	2.195	0.42468	D	0.992813	P	0.40083	0.702	P	0.56216	0.794	T	0.00177	-1.1952	10	0.72032	D	0.01	.	13.7982	0.63184	0.074:0.0:0.926:0.0	.	178	Q6ZSA7	LRC55_HUMAN	L	208	ENSP00000419542:R208L	ENSP00000419542:R208L	R	+	2	0	LRRC55	56706566	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.657000	0.46724	1.504000	0.48704	0.655000	0.94253	CGA	LRRC55	-	smart_Leu-rich_rpt_typical-subtyp		0.647	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	G	NM_001005210		56949990	1	no_errors	ENST00000497933	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56949990	G	T	56949990	3	4	92	1	0	0	0	0	1	0	0	0	9034	1058	37	3	625	3	LRRC55	11	56949990	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	54795728	56949990	78056526	47	13266										
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57069935	57069935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggctcaccctccactgacctCaatgaaggagaagtcctgac	9	14	2	4			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:57069935C>T	ENST00000532437.1	-	6	4992	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E1561K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1561	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCACTGACCTCAATGAAGGAG	0.632																																																	0													32	34	33					11																	57069935		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4681G>A	11.37:g.57069935C>T	ENSP00000437271:p.Glu1561Lys		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.E1561K	ENST00000532437.1	37	c.4681	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444662	0.83993	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34472	1.36;1.36	4.68	3.75	0.43078	.	0.566324	0.15848	N	0.241689	T	0.46483	0.1395	L	0.60455	1.87	0.30785	N	0.741586	D;P	0.60160	0.987;0.95	P;P	0.56751	0.805;0.513	T	0.50558	-0.8814	10	0.72032	D	0.01	-14.022	8.0796	0.30737	0.0:0.8899:0.0:0.1101	.	1561;142	Q9C0C2;Q86TK2	TB182_HUMAN;.	K	1561	ENSP00000350990:E1561K;ENSP00000437271:E1561K	ENSP00000350990:E1561K	E	-	1	0	TNKS1BP1	56826511	0.947000	0.32204	0.998000	0.56505	0.987000	0.75469	1.924000	0.40065	2.315000	0.78130	0.561000	0.74099	GAG	TNKS1BP1	-	NULL		0.632	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57069935	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.993	T	T	57069935	C	T	57069935	3	4	92	1	0	0	0	0	1	0	0	0	16350	835	29	1	528	1	TNKS1BP1	11	57069935	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	119945	57069935	77936581	48	13267										
FAM111A	63901	genome.wustl.edu	37	chr11	58920313	58920313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gcatgtaatagatagcattgTgggagacggaatagagccaa	13	5	0	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:58920313T>C	ENST00000528737.1	+	5	3990	c.1172T>C	c.(1171-1173)gTg>gCg	p.V391A	FAM111A_ENST00000361723.3_Missense_Mutation_p.V391A|FAM111A_ENST00000531147.1_Missense_Mutation_p.V391A|FAM111A_ENST00000420244.1_Missense_Mutation_p.V391A|FAM111A_ENST00000533703.1_Missense_Mutation_p.V391A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	391	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GATAGCATTGTGGGAGACGGA	0.413																																																	0													159	157	158					11																	58920313		2201	4295	6496	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1172T>C	11.37:g.58920313T>C	ENSP00000434435:p.Val391Ala		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.V391A	ENST00000528737.1	37	c.1172	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543227	0.65198	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.73	3.4	0.38934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.490245	0.20105	N	0.099155	D	0.90055	0.6894	L	0.55103	1.725	0.09310	N	1	D	0.57899	0.981	P	0.60345	0.873	T	0.81015	-0.1124	10	0.38643	T	0.18	-21.1422	8.1264	0.31001	0.0:0.1611:0.0:0.8389	.	391	Q96PZ2	F111A_HUMAN	A	391	ENSP00000434435:V391A;ENSP00000406683:V391A;ENSP00000355264:V391A;ENSP00000433154:V391A;ENSP00000431631:V391A	ENSP00000355264:V391A	V	+	2	0	FAM111A	58676889	0.012000	0.17670	0.194000	0.23346	0.103000	0.19146	0.854000	0.27791	1.094000	0.41399	0.533000	0.62120	GTG	FAM111A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	T	NM_022074		58920313	1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.280	C	C	58920313	T	C	58920313	3	2	92	1	0	0	0	0	1	0	0	0	5414	1696	59	5	1178	5	FAM111A	11	58920313	Missense_Mutation	SNP	T	TCGA-EA-A78R-01A-11D-A32I-09	1850378	58920313	76086203	49	13268										
PGR	5241	genome.wustl.edu	37	chr11	100912793	100912793	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ctaatgtagcttgacctcatCtcctcaaactgggtttgact	7	11	3	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:100912793C>G	ENST00000325455.5	-	7	3982	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	PGR_ENST00000534013.1_Missense_Mutation_p.E249D|PGR_ENST00000263463.5_Missense_Mutation_p.E741D	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	843	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGACCTCATCTCCTCAAACT	0.388																																					Pancreas(124;2271 2354 21954 22882)												0													95	92	93					11																	100912793		2203	4300	6503	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2529G>C	11.37:g.100912793C>G	ENSP00000325120:p.Glu843Asp		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.E843D	ENST00000325455.5	37	c.2529	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830434	0.50845	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	D;D;D	0.96554	-4.05;-4.05;-4.05	5.49	-1.34	0.09143	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.114616	0.64402	D	0.000019	D	0.94079	0.8102	M	0.82323	2.585	0.33003	D	0.526553	B;B;B	0.27882	0.026;0.192;0.006	B;B;B	0.36567	0.228;0.154;0.017	D	0.85123	0.0970	10	0.18276	T	0.48	.	2.033	0.03534	0.1207:0.4075:0.1176:0.3541	.	741;843;224	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	D	843;249;741	ENSP00000325120:E843D;ENSP00000436561:E249D;ENSP00000263463:E741D	ENSP00000263463:E741D	E	-	3	2	PGR	100418003	0.383000	0.25156	0.975000	0.42487	0.990000	0.78478	-0.256000	0.08757	-0.569000	0.06030	0.585000	0.79938	GAG	PGR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.388	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	C			100912793	-1	no_errors	ENST00000325455	ensembl	human	known	70_37	missense	SNP	0.936	G	G	100912793	C	G	100912793	3	3	92	1	0	0	0	0	1	0	0	0	11829	912	32	1	280	1	PGR	11	100912793	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	41992480	100912793	34093723	50	13269										
BUD13	84811	genome.wustl.edu	37	chr11	116631614	116631614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cagaatcctggtgccctggaCtttgtttatgccgtggagaa	12	9	0	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:116631614C>T	ENST00000260210.4	-	5	1114	c.1091G>A	c.(1090-1092)aGt>aAt	p.S364N	BUD13_ENST00000375445.3_Missense_Mutation_p.S230N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	364					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGCCCTGGACTTTGTTTATG	0.502																																																	0													150	139	142					11																	116631614		2201	4296	6497	SO:0001583	missense	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1091G>A	11.37:g.116631614C>T	ENSP00000260210:p.Ser364Asn		A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.S364N	ENST00000260210.4	37	c.1091	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	C	4.933	0.173277	0.09391	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.18502	2.21;2.23	4.35	-0.635	0.11512	.	0.969547	0.08604	N	0.920961	T	0.15869	0.0382	L	0.58669	1.825	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.004	T	0.37314	-0.9711	10	0.87932	D	0	0.0651	3.9757	0.09473	0.1739:0.315:0.0:0.5111	.	364;230;364	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	N	230;364	ENSP00000364594:S230N;ENSP00000260210:S364N	ENSP00000260210:S364N	S	-	2	0	BUD13	116136824	0.000000	0.05858	0.000000	0.03702	0.595000	0.36748	-0.067000	0.11579	-0.087000	0.12528	0.563000	0.77884	AGT	BUD13	-	NULL		0.502	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	C	NM_032725		116631614	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	missense	SNP	0.000	T	T	116631614	C	T	116631614	3	4	92	1	0	0	0	0	1	0	0	0	1576	565	20	4	792	4	BUD13	11	116631614	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	15718821	116631614	18374902	51	13270										
PRICKLE1	144165	genome.wustl.edu	37	chr12	42858228	42858228	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gacaatgccaaagaatccatCgaatcccgaacactttgctc	6	13	0	1	rs144062651	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:42858228C>T	ENST00000455697.1	-	7	1893	c.1608G>A	c.(1606-1608)tcG>tcA	p.S536S	PRICKLE1_ENST00000548696.1_Silent_p.S536S|PRICKLE1_ENST00000345127.3_Silent_p.S536S|PRICKLE1_ENST00000552240.1_Silent_p.S536S|PRICKLE1_ENST00000445766.2_Silent_p.S536S|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	536					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AAGAATCCATCGAATCCCGAA	0.408													C|||	2	0.000399361	0	0	5008	,	,		20491	0		0	False		,,,				2504	0.002																0								C	,,,	1,4405	4.2+/-10.8	0,1,2202	164	164	164		1608,1608,1608,1608	-2.8	1	12	dbSNP_134	164	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRICKLE1	NM_001144881.1,NM_001144882.1,NM_001144883.1,NM_153026.2	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	536/832,536/832,536/832,536/832	42858228	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1608G>A	12.37:g.42858228C>T			Q14C83|Q71QF8|Q96N00	Silent	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S536	ENST00000455697.1	37	c.1608	CCDS8742.1	12																																																																																			PRICKLE1	-	NULL		0.408	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	C			42858228	-1	no_errors	ENST00000345127	ensembl	human	known	70_37	silent	SNP	0.941	T	T	42858228	C	T	42858228	2	4	92	1	0	0	0	0	0	0	0	1	12513	871	31	1		1	PRICKLE1	12	42858228	Silent	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		42858228	90993667	52	13271										
ZNF385A	25946	genome.wustl.edu	37	chr12	54764831	54764831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cccagccgagggtaagctttGatgggcccgagcccacttcg	13	14	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:54764831G>C	ENST00000338010.5	-	6	767	c.714C>G	c.(712-714)atC>atG	p.I238M	ZNF385A_ENST00000551109.1_Missense_Mutation_p.I218M|ZNF385A_ENST00000546970.1_Missense_Mutation_p.I218M|ZNF385A_ENST00000551771.1_Missense_Mutation_p.I137M|ZNF385A_ENST00000394313.2_Missense_Mutation_p.I218M|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Missense_Mutation_p.I157M	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	238	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GGTAAGCTTTGATGGGCCCGA	0.582																																																	0													72	80	78					12																	54764831		2203	4300	6503	SO:0001583	missense	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.714C>G	12.37:g.54764831G>C	ENSP00000338927:p.Ile238Met		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.I238M	ENST00000338010.5	37	c.714	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036413	0.54896	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;1.28;1.21	3.6	1.74	0.24563	.	0.123966	0.52532	D	0.000077	T	0.51618	0.1685	L	0.52573	1.65	0.48135	D	0.999598	D;D;P;P	0.89917	0.998;1.0;0.911;0.911	D;D;P;P	0.91635	0.935;0.999;0.577;0.577	T	0.41395	-0.9511	10	0.40728	T	0.16	-1.111	7.6715	0.28462	0.2071:0.0:0.7929:0.0	.	137;218;218;218	Q96PM9-2;F8VRY0;Q96PM9;F1T0F1	.;.;Z385A_HUMAN;.	M	218;157;218;238;218;137;218;246	ENSP00000449161:I218M;ENSP00000293385:I157M;ENSP00000377849:I218M;ENSP00000338927:I238M;ENSP00000446913:I218M;ENSP00000447162:I137M;ENSP00000448466:I218M;ENSP00000448567:I246M	ENSP00000338927:I238M	I	-	3	3	ZNF385A	53051098	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.278000	0.43426	0.331000	0.23511	0.491000	0.48974	ATC	ZNF385A	-	NULL		0.582	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	G	NM_015481		54764831	-1	no_errors	ENST00000338010	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54764831	G	C	54764831	3	2	92	1	0	0	0	0	1	0	0	0	17906	1280	45	1	458	1	ZNF385A	12	54764831	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	11906603	54764831	79087064	53	13272										
COQ10A	93058	genome.wustl.edu	37	chr12	56661649	56661649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggctgaggctggcttaccttCgagccgttccttcatgggat	13	11	1	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:56661649C>T	ENST00000308197.5	+	2	467	c.206C>T	c.(205-207)tCg>tTg	p.S69L	COQ10A_ENST00000433805.2_Missense_Mutation_p.S37L|COQ10A_ENST00000546544.1_Missense_Mutation_p.S52L|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	69						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GGCTTACCTTCGAGCCGTTCC	0.562																																																	0													115	122	120					12																	56661649		2039	4178	6217	SO:0001583	missense	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.206C>T	12.37:g.56661649C>T	ENSP00000312587:p.Ser69Leu		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	pfam_Polyket_cyc	p.S69L	ENST00000308197.5	37	c.206	CCDS41796.1	12	.	.	.	.	.	.	.	.	.	.	C	6.869	0.529708	0.13127	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.23950	1.89;1.89;1.88	5.14	-0.293	0.12835	.	0.644172	0.16362	N	0.217726	T	0.11750	0.0286	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28378	0.209;0.102;0.0	B;B;B	0.20577	0.012;0.03;0.001	T	0.29912	-0.9996	10	0.11794	T	0.64	.	3.578	0.07942	0.1989:0.5059:0.0989:0.1963	.	52;74;69	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	L	69;37;52	ENSP00000312587:S69L;ENSP00000407843:S37L;ENSP00000446723:S52L	ENSP00000312587:S69L	S	+	2	0	COQ10A	54947916	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.430000	0.21428	-0.195000	0.10382	-1.255000	0.01485	TCG	COQ10A	-	NULL		0.562	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ10A	HGNC	protein_coding	OTTHUMT00000408332.1	C	NM_144576		56661649	1	no_errors	ENST00000308197	ensembl	human	known	70_37	missense	SNP	0.000	T	T	56661649	C	T	56661649	3	4	92	1	0	0	0	0	1	0	0	0	3748	893	31	1	254	1	COQ10A	12	56661649	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	1896818	56661649	77190246	54	13273										
C12orf64	283310	genome.wustl.edu	37	chr12	80714324	80714324	+	Frame_Shift_Del	DEL	T	T	-													0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cctttcatcggagagcaacaTttttccaccatcagggcctc							TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:80714324delT	ENST00000547103.1	+	33	3904	c.3898delT	c.(3898-3900)tttfs	p.F1301fs	OTOGL_ENST00000458043.2_Frame_Shift_Del_p.F1301fs			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1301					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAGAGCAACATTTTTCCACCA	0.433																																																	0													80	77	78					12																	80714324		1896	4119	6015	SO:0001589	frameshift_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3898delT	12.37:g.80714324delT	ENSP00000447211:p.Phe1301fs		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.F1301fs	ENST00000547103.1	37	c.3898		12																																																																																			OTOGL	-	pfam_AbfB,superfamily_AbfB		0.433	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	T	NM_173591		80714324	1	no_errors	ENST00000458043	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	80714324	T	-	80714324	7	5	92	1	0	1	0	1	0	0	0	0	1711	1493	52	0	4028	0	C12orf64	12	80714324	Frame_Shift_Del	DEL	T	TCGA-EA-A78R-01A-11D-A32I-09	24052675	80714324	53137571	55	13274										
RB1	5925	genome.wustl.edu	37	chr13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-													0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tctgaatgacaacatttttcAtatgtctttattggcgtgcg					rs367661403		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AACATTTTTCATATGTCTTTAT	0.238		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CI030637|CI071455|CM016043	RB1	I|M																																				SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.M484fs	ENST00000267163.4	37	c.1448_1449	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	AT			48954328	1	no_errors	ENST00000267163	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	48954328	AT	-	48954327	7	5	92	1	0	1	0	1	0	0	0	0	13128	217	8	0	1510	0	RB1	13	48954327	Frame_Shift_Del	DEL	AT	TCGA-EA-A78R-01A-11D-A32I-09		48954327	66215551	56	13275										
DOCK9	23348	genome.wustl.edu	37	chr13	99554035	99554035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gtaaaagccattcataccttAgaagagtctgaacttttcat	6	8	3	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr13:99554035A>G	ENST00000376460.1	-	13	1580	c.1500T>C	c.(1498-1500)tcT>tcC	p.S500S	DOCK9_ENST00000448493.2_Silent_p.S512S|DOCK9_ENST00000339416.2_Silent_p.S501S|DOCK9_ENST00000442173.1_Silent_p.S500S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	501					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATACCTTAGAAGAGTCTG	0.388																																																	0													54	51	52					13																	99554035		1874	4101	5975	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1500T>C	13.37:g.99554035A>G			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S501	ENST00000376460.1	37	c.1503	CCDS45062.1	13																																																																																			DOCK9	-	NULL		0.388	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	A	NM_015296		99554035	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	silent	SNP	0.985	G	G	99554035	A	G	99554035	2	3	92	1	0	0	0	0	0	0	0	1	4704	407	15	5		5	DOCK9	13	99554035	Silent	SNP	A	TCGA-EA-A78R-01A-11D-A32I-09	50599708	99554035	15615843	57	13276										
MYH6	4624	genome.wustl.edu	37	chr14	23853875	23853875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gttcttcttcatgcgctccaGgtgggcgctggtgtcctgct	13	12	3	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:23853875G>T	ENST00000356287.3	-	35	5370	c.5341C>A	c.(5341-5343)Ctg>Atg	p.L1781M	MYH6_ENST00000405093.3_Missense_Mutation_p.L1781M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1781					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGCGCTCCAGGTGGGCGCTG	0.632																																																	0													83	83	83					14																	23853875		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5341C>A	14.37:g.23853875G>T	ENSP00000348634:p.Leu1781Met		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1781M	ENST00000356287.3	37	c.5341	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	24.7	4.557565	0.86231	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80653	-1.4;-1.4	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	D	0.91362	0.7275	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92787	0.6245	9	0.62326	D	0.03	.	18.2942	0.90139	0.0:0.0:1.0:0.0	.	1781	P13533	MYH6_HUMAN	M	1781	ENSP00000386041:L1781M;ENSP00000348634:L1781M	ENSP00000348634:L1781M	L	-	1	2	MYH6	22923715	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.992000	0.56980	2.395000	0.81488	0.561000	0.74099	CTG	MYH6	-	pfam_Myosin_tail		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	G			23853875	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23853875	G	T	23853875	3	4	92	1	0	0	0	0	1	0	0	0	10061	991	35	4	494	4	MYH6	14	23853875	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		23853875	83495665	58	13277										
SDCCAG1	9147	genome.wustl.edu	37	chr14	50269245	50269245	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ccatgtcttcatcctgtactCtgacttttcgttcaccctga	5	14	4	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:50269245C>T	ENST00000298310.5	-	22	2470	c.2021G>A	c.(2020-2022)aGa>aAa	p.R674K	NEMF_ENST00000546046.1_Missense_Mutation_p.R653K|NEMF_ENST00000545773.1_Missense_Mutation_p.R632K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	674					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATCCTGTACTCTGACTTTTCG	0.363																																																	0													143	128	133					14																	50269245		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2021G>A	14.37:g.50269245C>T	ENSP00000298310:p.Arg674Lys		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.R674K	ENST00000298310.5	37	c.2021	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116198	0.37339	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.47177	0.86;0.85;0.87;0.85	5.27	4.38	0.52667	.	0.120261	0.53938	D	0.000041	T	0.17492	0.0420	N	0.03154	-0.405	0.80722	D	1	B;B;B;B	0.11235	0.0;0.004;0.0;0.0	B;B;B;B	0.15052	0.002;0.012;0.002;0.001	T	0.27054	-1.0085	10	0.02654	T	1	-20.7092	5.3742	0.16156	0.0:0.7148:0.0:0.2852	.	653;649;632;674	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	K	674;632;653;446;632	ENSP00000298310:R674K;ENSP00000438309:R632K;ENSP00000441016:R653K;ENSP00000452540:R632K	ENSP00000298310:R674K	R	-	2	0	NEMF	49338995	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.866000	0.56040	2.487000	0.83934	0.579000	0.79373	AGA	NEMF	-	NULL		0.363	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50269245	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50269245	C	T	50269245	3	4	92	1	0	0	0	0	1	0	0	0	13987	913	32	1	1257	1	SDCCAG1	14	50269245	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	26415370	50269245	57080295	59	13278										
KIAA0317	9870	genome.wustl.edu	37	chr14	75134036	75134036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	acttacctcaagctcattctCatcaaaaatagccaaaaggt	4	11	4	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:75134036C>T	ENST00000356357.4	-	17	2604	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	697	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGCTCATTCTCATCAAAAATA	0.403																																																	0													121	107	111					14																	75134036		1859	4123	5982	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2089G>A	14.37:g.75134036C>T	ENSP00000348714:p.Glu697Lys		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.E697K	ENST00000356357.4	37	c.2089	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.721356	0.96839	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.45668	0.89;0.89	5.44	5.44	0.79542	HECT (4);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	H	0.96970	3.915	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85305	0.1075	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	697	O15033	K0317_HUMAN	K	697;536;536	ENSP00000348714:E697K;ENSP00000452101:E536K	ENSP00000348714:E697K	E	-	1	0	KIAA0317	74203789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAG	KIAA0317	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	C	NM_014821		75134036	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75134036	C	T	75134036	3	4	92	1	0	0	0	0	1	0	0	0	8187	835	29	1	398	1	KIAA0317	14	75134036	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	24864791	75134036	32215504	60	13279										
C14orf118	55668	genome.wustl.edu	37	chr14	76620866	76620866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gtcgttctgacttcactcacCtggcagagcatacctgctgc	9	14	3	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:76620866C>A	ENST00000261530.7	+	2	226	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.L54M|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.L54M|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.L54M	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	54																	CTTCACTCACCTGGCAGAGCA	0.587																																																	0													58	55	56					14																	76620866		2203	4300	6503	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.160C>A	14.37:g.76620866C>A	ENSP00000261530:p.Leu54Met		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.L54M	ENST00000261530.7	37	c.160	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363819	0.61513	.	.	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.44	4.35	0.52113	.	0.172377	0.39759	N	0.001264	T	0.37348	0.1000	N	0.14661	0.345	0.80722	D	1	P;B;P	0.40875	0.729;0.226;0.731	P;B;B	0.48400	0.576;0.33;0.444	T	0.35500	-0.9786	10	0.54805	T	0.06	-31.4904	15.0618	0.71961	0.0:0.9202:0.0:0.0798	.	54;54;54	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	M	54	ENSP00000451587:L54M;ENSP00000323775:L54M;ENSP00000261530:L54M;ENSP00000450657:L54M	ENSP00000261530:L54M	L	+	1	2	C14orf118	75690619	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.422000	0.59854	2.553000	0.86117	0.561000	0.74099	CTG	GPATCH2L	-	NULL		0.587	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2	C	NM_017926		76620866	1	no_errors	ENST00000261530	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76620866	C	A	76620866	3	1	92	1	0	0	0	0	1	0	0	0	1745	680	24	4	162	4	C14orf118	14	76620866	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	1486830	76620866	30728674	61	13280										
SNW1	22938	genome.wustl.edu	37	chr14	78189584	78189584	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gtctctcttttcgcctgtcaTgccggatttcatccctctca	6	15	5	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:78189584T>A	ENST00000261531.7	-	11	1132	c.1070A>T	c.(1069-1071)cAt>cTt	p.H357L	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.H195L|SNW1_ENST00000555761.1_Missense_Mutation_p.H357L	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	357					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCGCCTGTCATGCCGGATTTC	0.468																																																	0													161	127	138					14																	78189584		2203	4300	6503	SO:0001583	missense	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1070A>T	14.37:g.78189584T>A	ENSP00000261531:p.His357Leu		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.H357L	ENST00000261531.7	37	c.1070	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260626	0.59431	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.39085	1.19	0.58432	D	0.999999	B;B	0.23650	0.001;0.089	B;B	0.19946	0.007;0.027	T	0.47724	-0.9095	9	0.25751	T	0.34	.	15.7631	0.78103	0.0:0.0:0.0:1.0	.	357;357	G3V3A4;Q13573	.;SNW1_HUMAN	L	357;195;357	.	ENSP00000261531:H357L	H	-	2	0	SNW1	77259337	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.774000	0.85478	2.126000	0.65437	0.377000	0.23210	CAT	SNW1	-	NULL		0.468	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	T	NM_012245		78189584	-1	no_errors	ENST00000261531	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78189584	T	A	78189584	3	1	92	1	0	0	0	0	1	0	0	0	14909	1464	51	5	556	5	SNW1	14	78189584	Missense_Mutation	SNP	T	TCGA-EA-A78R-01A-11D-A32I-09	1568718	78189584	29159956	62	13281										
SNW1	22938	genome.wustl.edu	37	chr14	78205174	78205174	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gctcgaactggcatggctgcGgcgaccttctgtgatacaga	13	11	1	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:78205174G>T	ENST00000261531.7	-	5	542	c.480C>A	c.(478-480)gcC>gcA	p.A160A	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_5'UTR|SNW1_ENST00000555761.1_Silent_p.A160A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	160					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCATGGCTGCGGCGACCTTCT	0.408																																																	0													80	82	81					14																	78205174		2203	4300	6503	SO:0001819	synonymous_variant	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.480C>A	14.37:g.78205174G>T			A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.A160	ENST00000261531.7	37	c.480	CCDS9867.1	14																																																																																			SNW1	-	NULL		0.408	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	G	NM_012245		78205174	-1	no_errors	ENST00000261531	ensembl	human	known	70_37	silent	SNP	0.855	T	T	78205174	G	T	78205174	2	4	92	1	0	0	0	0	0	0	0	1	14909	1103	39	2		2	SNW1	14	78205174	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	15590	78205174	29144366	63	13282										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102452449	102452449	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ttcaaggtccagtacccacaGagtcaggcttgtaagatgag	11	9	2	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:102452449G>A	ENST00000360184.4	+	8	2051	c.1887G>A	c.(1885-1887)caG>caA	p.Q629Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	629	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGTACCCACAGAGTCAGGCTT	0.532																																																	0													76	62	67					14																	102452449		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1887G>A	14.37:g.102452449G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q629	ENST00000360184.4	37	c.1887	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-1		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102452449	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	0.992	A	A	102452449	G	A	102452449	2	1	92	1	0	0	0	0	0	0	0	1	4851	933	33	1		1	DYNC1H1	14	102452449	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	24247275	102452449	4897091	64	13283										
PACS2	23241	genome.wustl.edu	37	chr14	105848285	105848285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	aggctggccgacggggccggAgcacatccttgaaggagcgg	18	11	0	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:105848285A>G	ENST00000325438.8	+	13	1807	c.1303A>G	c.(1303-1305)Agc>Ggc	p.S435G	PACS2_ENST00000547217.1_Missense_Mutation_p.S405G|PACS2_ENST00000447393.1_Missense_Mutation_p.S435G|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.S435G|PACS2_ENST00000430725.2_Missense_Mutation_p.S360G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	435					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGGGGCCGGAGCACATCCTT	0.677																																																	0													22	21	21					14																	105848285		2104	4137	6241	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1303A>G	14.37:g.105848285A>G	ENSP00000321834:p.Ser435Gly		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S435G	ENST00000325438.8	37	c.1303	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273445	0.59649	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.31510	1.69;1.68;1.49;1.49;1.68	4.71	3.56	0.40772	.	0.082373	0.85682	D	0.000000	T	0.46386	0.1390	L	0.53249	1.67	0.80722	D	1	B;B;D;D	0.63046	0.058;0.166;0.969;0.992	B;B;P;D	0.74674	0.049;0.169;0.725;0.984	T	0.35400	-0.9790	10	0.59425	D	0.04	-24.6575	9.3721	0.38261	0.9125:0.0:0.0875:0.0	.	435;435;435;436	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	G	360;435;435;435;405	ENSP00000393524:S360G;ENSP00000321834:S435G;ENSP00000399732:S435G;ENSP00000393559:S435G;ENSP00000449525:S405G	ENSP00000321834:S435G	S	+	1	0	PACS2	104919330	1.000000	0.71417	0.991000	0.47740	0.422000	0.31414	7.158000	0.77470	0.750000	0.32877	0.528000	0.53228	AGC	PACS2	-	NULL		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	A	XM_377355		105848285	1	no_errors	ENST00000458164	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105848285	A	G	105848285	3	3	92	1	0	0	0	0	1	0	0	0	11397	304	11	5	1353	5	PACS2	14	105848285	Missense_Mutation	SNP	A	TCGA-EA-A78R-01A-11D-A32I-09	3395836	105848285	1501255	65	13284										
AQR	9716	genome.wustl.edu	37	chr15	35166878	35166878	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ttttttcctgtctcttttacCttgctctggctctcccttga	5	13	3	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr15:35166878C>T	ENST00000156471.5	-	29	3650	c.3425G>A	c.(3424-3426)aGc>aAc	p.S1142N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1142					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCTTTTACCTTGCTCTGGC	0.408																																																	0													120	110	113					15																	35166878		1886	4112	5998	SO:0001630	splice_region_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3425+1G>A	15.37:g.35166878C>T			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.S1142N	ENST00000156471.5	37	c.3425	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324632	0.81580	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.81908	-1.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.77313	2.365	0.58432	D	0.999998	B	0.29835	0.258	B	0.37833	0.259	D	0.83554	0.0103	9	.	.	.	-10.7656	19.4755	0.94985	0.0:1.0:0.0:0.0	.	1142	O60306	AQR_HUMAN	N	1142	ENSP00000156471:S1142N	.	S	-	2	0	AQR	32954170	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.755000	0.85180	2.605000	0.88082	0.650000	0.86243	AGC	AQR	-	NULL		0.408	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	C	NM_014691	Missense_Mutation	35166878	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35166878	C	T	35166878	5	4	92	1	0	0	0	0	0	0	1	0	835	695	24	4	1060	4	AQR	15	35166878	Splice_Site	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		35166878	67364514	66	13285										
ADCY9	115	genome.wustl.edu	37	chr16	4016873	4016873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gaaccagaccaacaagagcaGgagaaagaagacgagaacca	11	9	0	6			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:4016873G>T	ENST00000294016.3	-	11	3503	c.2965C>A	c.(2965-2967)Ctg>Atg	p.L989M		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	989					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AACAAGAGCAGGAGAAAGAAG	0.592																																																	0													74	81	79					16																	4016873		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2965C>A	16.37:g.4016873G>T	ENSP00000294016:p.Leu989Met		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L989M	ENST00000294016.3	37	c.2965	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004623	0.54254	.	.	ENSG00000162104	ENST00000294016	D	0.85629	-2.01	5.39	5.39	0.77823	.	0.064985	0.64402	D	0.000010	D	0.91526	0.7324	M	0.69823	2.125	0.48135	D	0.999591	D	0.71674	0.998	D	0.66847	0.947	D	0.90146	0.4217	10	0.38643	T	0.18	.	19.501	0.95095	0.0:0.0:1.0:0.0	.	989	O60503	ADCY9_HUMAN	M	989	ENSP00000294016:L989M	ENSP00000294016:L989M	L	-	1	2	ADCY9	3956874	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	5.652000	0.67959	2.692000	0.91855	0.491000	0.48974	CTG	ADCY9	-	NULL		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	G			4016873	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4016873	G	T	4016873	3	4	92	1	0	0	0	0	1	0	0	0	301	991	35	4	1100	4	ADCY9	16	4016873	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		4016873	86337880	67	13286										
IL4R	3566	genome.wustl.edu	37	chr16	27353578	27353578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cagctggtttttctgctctcCgagtaagcctgcgctggagc	12	12	2	0	rs575619134		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:27353578C>T	ENST00000395762.2	+	4	466	c.207C>T	c.(205-207)tcC>tcT	p.S69S	IL4R_ENST00000170630.2_Silent_p.S69S|IL4R_ENST00000543915.2_Silent_p.S69S|IL4R_ENST00000449195.1_Silent_p.S69S|IL4R_ENST00000380922.3_Silent_p.S54S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	69					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCTGCTCTCCGAGTAAGCCT	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		21803	0		0	False		,,,				2504	0																0													126	112	117					16																	27353578		2197	4300	6497	SO:0001819	synonymous_variant	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.207C>T	16.37:g.27353578C>T			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S69	ENST00000395762.2	37	c.207	CCDS10629.1	16																																																																																			IL4R	-	pfam_IL4Ra_N,superfamily_Fibronectin_type3		0.577	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	C			27353578	1	no_errors	ENST00000170630	ensembl	human	known	70_37	silent	SNP	0.004	T	T	27353578	C	T	27353578	2	4	92	1	0	0	0	0	0	0	0	1	7718	639	23	2		2	IL4R	16	27353578	Silent	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	23336705	27353578	63001175	68	13287										
LRRC36	55282	genome.wustl.edu	37	chr16	67405106	67405106	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gacaatatccttgccaacctGaatctaaagcatggtttcca	6	11	1	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:67405106G>T	ENST00000329956.6	+	9	1474	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	LRRC36_ENST00000563189.1_Silent_p.L364L|LRRC36_ENST00000435835.3_Silent_p.L364L|LRRC36_ENST00000541146.1_Nonsense_Mutation_p.E10*|LRRC36_ENST00000290940.7_Silent_p.L217L	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	485										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTGCCAACCTGAATCTAAAGC	0.463																																																	0													141	128	133					16																	67405106		2198	4300	6498	SO:0001819	synonymous_variant	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1455G>T	16.37:g.67405106G>T			A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Nonsense_Mutation	SNP	NULL	p.E10*	ENST00000329956.6	37	c.28	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.756821	0.98471	.	.	ENSG00000159708	ENST00000541146	.	.	.	5.67	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2579	10.7549	0.46230	0.0875:0.0:0.9125:0.0	.	.	.	.	X	10	.	ENSP00000445861:E10X	E	+	1	0	LRRC36	65962607	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.668000	0.61568	1.420000	0.47138	-0.150000	0.13652	GAA	LRRC36	-	NULL		0.463	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	G	NM_018296		67405106	1	no_errors	ENST00000541146	ensembl	human	known	70_37	nonsense	SNP	0.645	T	T	67405106	G	T	67405106	2	4	92	1	0	0	0	0	0	0	0	1	9013	1277	45	3		3	LRRC36	16	67405106	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	40051528	67405106	22949647	69	13288										
DPEP2	64174	genome.wustl.edu	37	chr16	68023268	68023268	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	caccaatcccgatgaacttgGatccaatgacagccttgatg	8	12	0	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:68023268G>C	ENST00000572888.1	-	8	1678	c.1028C>G	c.(1027-1029)tCc>tGc	p.S343C	DPEP2_ENST00000412757.2_Missense_Mutation_p.S343C|DPEP2_ENST00000393847.1_Missense_Mutation_p.S343C			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	343					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GATGAACTTGGATCCAATGAC	0.597																																																	0													144	107	119					16																	68023268		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1028C>G	16.37:g.68023268G>C	ENSP00000458977:p.Ser343Cys		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.S343C	ENST00000572888.1	37	c.1028	CCDS10857.1	16	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375190	0.24857	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.22743	1.94;1.94	4.56	2.59	0.31030	.	0.417107	0.26563	N	0.023679	T	0.38506	0.1043	M	0.78637	2.42	0.80722	D	1	D;D	0.57571	0.98;0.975	D;P	0.65140	0.932;0.887	T	0.11131	-1.0600	10	0.37606	T	0.19	-12.6884	6.4532	0.21916	0.0974:0.1837:0.719:0.0	.	343;256	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	C	343;343;256	ENSP00000377430:S343C;ENSP00000412549:S343C	ENSP00000314702:S256C	S	-	2	0	DPEP2	66580769	0.996000	0.38824	0.998000	0.56505	0.219000	0.24729	4.475000	0.60210	0.853000	0.35312	0.561000	0.74099	TCC	DPEP2	-	pfam_Peptidase_M19		0.597	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	G	NM_022355		68023268	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	0.999	C	C	68023268	G	C	68023268	3	2	92	1	0	0	0	0	1	0	0	0	4724	1174	41	1	444	1	DPEP2	16	68023268	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	618162	68023268	22331485	70	13289										
WDR81	124997	genome.wustl.edu	37	chr17	1637052	1637052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cattcagatccccaatgactCtcggcctgagaaccccggac	8	16	2	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:1637052C>T	ENST00000409644.1	+	7	4721	c.4721C>T	c.(4720-4722)tCt>tTt	p.S1574F	WDR81_ENST00000419248.1_Missense_Mutation_p.S347F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.S205F|WDR81_ENST00000309182.5_Missense_Mutation_p.S523F|WDR81_ENST00000446363.1_Missense_Mutation_p.S213F|WDR81_ENST00000437219.2_Missense_Mutation_p.S371F	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1574					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCAATGACTCTCGGCCTGAG	0.692																																																	0													27	28	28					17																	1637052		2202	4296	6498	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4721C>T	17.37:g.1637052C>T	ENSP00000386609:p.Ser1574Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1574F	ENST00000409644.1	37	c.4721	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	7.510	0.654521	0.14580	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.55930	2.36;2.35;0.5;2.37;0.63;0.49	5.18	4.22	0.49857	.	0.623355	0.16418	N	0.215299	T	0.40347	0.1113	L	0.42245	1.32	0.26405	N	0.976361	B;B;P;B	0.34780	0.257;0.257;0.468;0.257	B;B;B;B	0.29267	0.064;0.064;0.1;0.062	T	0.21109	-1.0255	9	.	.	.	.	9.45	0.38721	0.0:0.8379:0.0:0.1621	.	205;371;701;523	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	F	371;523;213;347;1574;325;205	ENSP00000391074:S371F;ENSP00000312074:S523F;ENSP00000401560:S213F;ENSP00000407845:S347F;ENSP00000386609:S1574F;ENSP00000442726:S205F	.	S	+	2	0	WDR81	1583802	0.003000	0.15002	0.190000	0.23270	0.032000	0.12392	1.396000	0.34531	1.210000	0.43336	-0.222000	0.12452	TCT	WDR81	-	NULL		0.692	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1637052	1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	0.487	T	T	1637052	C	T	1637052	3	4	92	1	0	0	0	0	1	0	0	0	17361	913	32	1	4809	1	WDR81	17	1637052	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		1637052	79558158	71	13290										
ENO3	2027	genome.wustl.edu	37	chr17	4859382	4859382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gccgttgagaagaaggcctgCaactgtctgctgctgaaggt	14	9	1	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:4859382C>T	ENST00000323997.6	+	9	1143	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	ENO3_ENST00000519584.1_Silent_p.C294C|ENO3_ENST00000518175.1_Silent_p.C337C	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	337					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAAGGCCTGCAACTGTCTGC	0.592																																																	0													103	83	90					17																	4859382		2203	4300	6503	SO:0001819	synonymous_variant	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1011C>T	17.37:g.4859382C>T			B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.C337	ENST00000323997.6	37	c.1011	CCDS11062.1	17																																																																																			ENO3	-	pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase		0.592	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	C			4859382	1	no_errors	ENST00000323997	ensembl	human	known	70_37	silent	SNP	0.995	T	T	4859382	C	T	4859382	2	4	92	1	0	0	0	0	0	0	0	1	5135	718	25	4		4	ENO3	17	4859382	Silent	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	3222330	4859382	76335828	72	13291										
MYH10	4628	genome.wustl.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cttctccaggttcttcctggCctcctcctcctcctcctgct					rs146612839		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																																	0																																										SO:0001651	inframe_deletion	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1378in_frame_del	ENST00000269243.4	37	c.4135_4133	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_tail		0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	CCT			8397097	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	8397097	CCT	-	8397095	7	5	92	1	0	1	0	1	0	0	0	0	10053	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-EA-A78R-01A-11D-A32I-09	3537713	8397095	72798115	73	13292										
FBXO47	494188	genome.wustl.edu	37	chr17	37094979	37094979	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	catgcagtacagttctttctCacacacctgatttagacata	5	11	2	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:37094979C>G	ENST00000378079.2	-	10	1289	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	364										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGTTCTTTCTCACACACCTGA	0.348																																																	0													143	136	138					17																	37094979		2203	4300	6503	SO:0001583	missense	494188				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1090G>C	17.37:g.37094979C>G	ENSP00000367319:p.Glu364Gln		B2RTZ4	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E364Q	ENST00000378079.2	37	c.1090	CCDS32639.1	17	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202884	0.38905	.	.	ENSG00000204952	ENST00000378079	T	0.60171	0.21	5.56	5.56	0.83823	.	0.103906	0.64402	D	0.000004	T	0.41351	0.1155	L	0.29908	0.895	0.35277	D	0.78103	P	0.44429	0.835	B	0.35073	0.195	T	0.52689	-0.8542	10	0.22706	T	0.39	-14.3296	13.7895	0.63131	0.0:0.8463:0.1537:0.0	.	364	Q5MNV8	FBX47_HUMAN	Q	364	ENSP00000367319:E364Q	ENSP00000367319:E364Q	E	-	1	0	FBXO47	34348505	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	4.228000	0.58619	2.630000	0.89119	0.491000	0.48974	GAG	FBXO47	-	NULL		0.348	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1	C	NM_001008777		37094979	-1	no_errors	ENST00000378079	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37094979	C	G	37094979	3	3	92	1	0	0	0	0	1	0	0	0	5774	835	29	1	276	1	FBXO47	17	37094979	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	28697884	37094979	44100231	74	13293										
PPM1E	22843	genome.wustl.edu	37	chr17	56833497	56833497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	aacccgaacccgagtccgagCccgagcccgaacctgaactg	10	17	0	1	rs61052860		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:56833497C>T	ENST00000308249.2	+	1	268	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			cgagtccgagcccgagcccga	0.701																																																	0													15	17	16					17																	56833497		2188	4270	6458	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.139C>T	17.37:g.56833497C>T	ENSP00000312411:p.Pro47Ser		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.P47S	ENST00000308249.2	37	c.139	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100828	0.20552	.	.	ENSG00000175175	ENST00000308249	T	0.22336	1.96	4.15	3.1	0.35709	.	.	.	.	.	T	0.09202	0.0227	N	0.14661	0.345	0.23192	N	0.998149	P	0.36909	0.573	B	0.32342	0.144	T	0.08452	-1.0721	9	0.02654	T	1	1.9125	10.3339	0.43839	0.0:0.7991:0.2009:0.0	rs61052860	47	Q8WY54-2	.	S	47	ENSP00000312411:P47S	ENSP00000312411:P47S	P	+	1	0	PPM1E	54188496	0.741000	0.28217	1.000000	0.80357	0.229000	0.25112	1.208000	0.32345	2.017000	0.59298	0.462000	0.41574	CCC	PPM1E	-	NULL		0.701	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	C	NM_014906		56833497	1	no_errors	ENST00000308249	ensembl	human	known	70_37	missense	SNP	0.999	T	T	56833497	C	T	56833497	3	4	92	1	0	0	0	0	1	0	0	0	12365	739	26	4	141	4	PPM1E	17	56833497	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	19738518	56833497	24361713	75	13294										
CCDC40	55036	genome.wustl.edu	37	chr17	78071135	78071135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	agagaagcaggaaaagctgtCggtgattcaggcagacttcg	14	7	1	3	rs553780409		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:78071135C>T	ENST00000397545.4	+	19	3140	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1038					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAAAGCTGTCGGTGATTCAG	0.562													C|||	1	0.000199681	0	0	5008	,	,		20640	0		0	False		,,,				2504	0.001																0													56	62	60					17																	78071135		2012	4161	6173	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3113C>T	17.37:g.78071135C>T	ENSP00000380679:p.Ser1038Leu		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.S1038L	ENST00000397545.4	37	c.3113	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154925	0.57259	.	.	ENSG00000141519	ENST00000397545	T	0.50548	0.74	4.51	3.53	0.40419	.	.	.	.	.	T	0.58694	0.2140	M	0.76838	2.35	0.21473	N	0.999672	D;D	0.64830	0.994;0.993	P;P	0.54460	0.645;0.753	T	0.49184	-0.8966	9	0.33940	T	0.23	-0.7359	9.6418	0.39844	0.0:0.7746:0.1426:0.0828	.	1038;821	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	L	1038	ENSP00000380679:S1038L	ENSP00000380679:S1038L	S	+	2	0	CCDC40	75685730	0.074000	0.21230	0.040000	0.18447	0.006000	0.05464	1.071000	0.30666	1.194000	0.43101	0.467000	0.42956	TCG	CCDC40	-	NULL		0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	C	XM_371082		78071135	1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	0.077	T	T	78071135	C	T	78071135	3	4	92	1	0	0	0	0	1	0	0	0	2817	893	31	1	3187	1	CCDC40	17	78071135	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	21237638	78071135	3124075	76	13295										
PIP5K1C	23396	genome.wustl.edu	37	chr19	3656474	3656474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gacggtcttgatgatgaactCgtcgtcgctggtgacgtaga	14	8	1	5			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:3656474C>T	ENST00000335312.3	-	6	638	c.550G>A	c.(550-552)Gag>Aag	p.E184K	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E184K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E184K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E184K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	184	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATGATGAACTCGTCGTCGCTG	0.627																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													81	82	82					19																	3656474		2203	4300	6503	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.550G>A	19.37:g.3656474C>T	ENSP00000335333:p.Glu184Lys		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E184K	ENST00000335312.3	37	c.550	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652344	0.88056	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.27256	1.68;1.68;1.68	4.22	4.22	0.49857	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.36249	0.545;0.332	B;B	0.28553	0.055;0.091	T	0.10543	-1.0625	10	0.66056	D	0.02	-39.1041	15.9238	0.79597	0.0:1.0:0.0:0.0	.	184;184	O60331-3;O60331	.;PI51C_HUMAN	K	184	ENSP00000335333:E184K;ENSP00000445992:E184K;ENSP00000444779:E184K	ENSP00000335333:E184K	E	-	1	0	PIP5K1C	3607474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.568000	0.82369	2.067000	0.61834	0.561000	0.74099	GAG	PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.627	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	C	NM_012398		3656474	-1	no_errors	ENST00000537021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3656474	C	T	3656474	3	4	92	1	0	0	0	0	1	0	0	0	11965	893	31	1	1508	1	PIP5K1C	19	3656474	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		3656474	55472509	77	13296										
OR7G1	125962	genome.wustl.edu	37	chr19	9225977	9225977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cagactctgaaccagggcatCcatagtgctcatgaacatgg	10	11	2	3			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:9225977C>T	ENST00000541538.1	-	1	462	c.463G>A	c.(463-465)Gat>Aat	p.D155N	OR7G1_ENST00000293614.1_Missense_Mutation_p.D155N	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ACCAGGGCATCCATAGTGCTC	0.488																																																	0													104	99	101					19																	9225977		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.463G>A	19.37:g.9225977C>T	ENSP00000444134:p.Asp155Asn		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D155N	ENST00000541538.1	37	c.463	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	c	0.220	-1.029055	0.02045	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.36520	1.25;1.25	3.78	-4.69	0.03299	GPCR, rhodopsin-like superfamily (1);	0.627047	0.12918	N	0.428415	T	0.10035	0.0246	N	0.04018	-0.295	0.09310	N	1	B	0.13594	0.008	B	0.25405	0.06	T	0.30357	-0.9981	10	0.02654	T	1	.	1.4948	0.02464	0.1232:0.2297:0.2431:0.404	.	155	Q8NGA0	OR7G1_HUMAN	N	155	ENSP00000293614:D155N;ENSP00000444134:D155N	ENSP00000293614:D155N	D	-	1	0	OR7G1	9086977	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.359000	0.00498	-0.876000	0.04017	0.501000	0.49751	GAT	OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	C			9225977	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9225977	C	T	9225977	3	4	92	1	0	0	0	0	1	0	0	0	11246	855	30	1	546	1	OR7G1	19	9225977	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	5569503	9225977	49903006	78	13297										
RFX1	5989	genome.wustl.edu	37	chr19	14074708	14074708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	cacgcggttgaggtcgctcaGcatctggttgatctgtgcgg	15	10	3	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:14074708G>A	ENST00000254325.4	-	17	2557	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	775	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			AGGTCGCTCAGCATCTGGTTG	0.711																																																	0													34	19	24					19																	14074708		2114	4151	6265	SO:0001819	synonymous_variant	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2323C>T	19.37:g.14074708G>A				Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.L775	ENST00000254325.4	37	c.2323	CCDS12301.1	19																																																																																			RFX1	-	NULL		0.711	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	G	NM_002918		14074708	-1	no_errors	ENST00000254325	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14074708	G	A	14074708	2	1	92	1	0	0	0	0	0	0	0	1	13292	962	34	4		4	RFX1	19	14074708	Silent	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09	4848731	14074708	45054275	79	13298										
PRR12	57479	genome.wustl.edu	37	chr19	50102572	50102572	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tggcgagggtctgggaacctCatcgggtgatgccatatcag	15	9	3	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:50102572C>G	ENST00000418929.2	+	5	3734	c.3722C>G	c.(3721-3723)tCa>tGa	p.S1241*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGGGAACCTCATCGGGTGAT	0.612																																																	0													30	31	31					19																	50102572		2053	4209	6262	SO:0001587	stop_gained	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3722C>G	19.37:g.50102572C>G	ENSP00000394510:p.Ser1241*		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.S1241*	ENST00000418929.2	37	c.3722	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.526798	0.97637	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.85	3.76	0.43208	.	0.584335	0.14360	N	0.324464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-8.4697	9.8963	0.41320	0.0:0.8908:0.0:0.1092	.	.	.	.	X	1241;421;421	.	ENSP00000246798:S421X	S	+	2	0	PRR12	54794384	0.013000	0.17824	0.033000	0.17914	0.119000	0.20118	1.772000	0.38552	2.527000	0.85204	0.563000	0.77884	TCA	PRR12	-	NULL		0.612	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50102572	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	nonsense	SNP	0.001	G	G	50102572	C	G	50102572	4	3	92	1	0	0	0	0	0	1	0	0	12611	838	29	1	3740	1	PRR12	19	50102572	Nonsense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	36027864	50102572	9026411	80	13299										
LAMA5	3911	genome.wustl.edu	37	chr20	60886121	60886121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ggaggaggcctcgggagcttCgcgggaggacgtgcatggag	21	8	0	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr20:60886121C>T	ENST00000252999.3	-	74	10184	c.10118G>A	c.(10117-10119)cGa>cAa	p.R3373Q	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3373	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCGGGAGCTTCGCGGGAGGAC	0.682																																																	0													19	20	20					20																	60886121		2192	4289	6481	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10118G>A	20.37:g.60886121C>T	ENSP00000252999:p.Arg3373Gln		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R3373Q	ENST00000252999.3	37	c.10118	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	c	13.35	2.211889	0.39102	.	.	ENSG00000130702	ENST00000252999	T	0.78707	-1.2	4.69	-9.39	0.00619	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.679611	0.13892	N	0.355574	T	0.57417	0.2052	L	0.46157	1.445	0.09310	N	0.999999	B	0.25743	0.133	B	0.19946	0.027	T	0.34601	-0.9822	10	0.23302	T	0.38	.	4.3508	0.11155	0.0961:0.1455:0.1901:0.5683	.	3373	O15230	LAMA5_HUMAN	Q	3373	ENSP00000252999:R3373Q	ENSP00000252999:R3373Q	R	-	2	0	LAMA5	60319516	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.279000	0.00261	-2.579000	0.00463	-0.348000	0.07805	CGA	LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	C	NM_005560		60886121	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.000	T	T	60886121	C	T	60886121	3	4	92	1	0	0	0	0	1	0	0	0	8629	884	31	1	997	1	LAMA5	20	60886121	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09		60886121	2139399	81	13300										
SLCO4A1	28231	genome.wustl.edu	37	chr20	61291826	61291826	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	gtgggtcggcttcctgggctCtggggccgctgctttcttca	15	12	3	0			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr20:61291826C>T	ENST00000370507.1	+	3	1046	c.950C>T	c.(949-951)tCt>tTt	p.S317F	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.S317F|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	317					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCCTGGGCTCTGGGGCCGCT	0.662																																					Pancreas(168;741 2006 10379 40139 45334)												0													57	56	56					20																	61291826		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.950C>T	20.37:g.61291826C>T	ENSP00000359538:p.Ser317Phe		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S317F	ENST00000370507.1	37	c.950	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870899	0.17322	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.40756	1.02;1.02	4.5	4.5	0.54988	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.407067	0.26478	N	0.024155	T	0.42268	0.1195	L	0.51422	1.61	0.09310	N	0.999999	B	0.20988	0.05	B	0.29267	0.1	T	0.32268	-0.9913	10	0.32370	T	0.25	.	17.182	0.86857	0.0:1.0:0.0:0.0	.	317	Q96BD0	SO4A1_HUMAN	F	317	ENSP00000217159:S317F;ENSP00000359538:S317F	ENSP00000217159:S317F	S	+	2	0	SLCO4A1	60762271	0.546000	0.26457	0.004000	0.12327	0.023000	0.10783	4.549000	0.60726	2.046000	0.60703	0.561000	0.74099	TCT	SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	C	NM_016354		61291826	1	no_errors	ENST00000217159	ensembl	human	known	70_37	missense	SNP	0.157	T	T	61291826	C	T	61291826	3	4	92	1	0	0	0	0	1	0	0	0	14759	913	32	1	960	1	SLCO4A1	20	61291826	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	405705	61291826	1733694	82	13301										
SPIN2B	474343	genome.wustl.edu	37	chrX	57146635	57146635	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	tccccctccattcatccttaGaaccatgctctccctcaaac	2	19	3	1			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chrX:57146635G>A	ENST00000333933.3	-	2	738	c.428C>T	c.(427-429)tCt>tTt	p.S143F	SPIN2B_ENST00000374912.5_Missense_Mutation_p.S143F|SPIN2B_ENST00000275988.5_Missense_Mutation_p.S143F|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374910.3_Intron|SPIN2B_ENST00000460948.1_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	143					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						TTCATCCTTAGAACCATGCTC	0.433																																																	0													144	124	131					X																	57146635		2200	4296	6496	SO:0001583	missense	474343			AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.428C>T	X.37:g.57146635G>A	ENSP00000335008:p.Ser143Phe		Q7Z2M0	Missense_Mutation	SNP	pfam_Spin_Ssty	p.S143F	ENST00000333933.3	37	c.428	CCDS35311.1	X	.	.	.	.	.	.	.	.	.	.	g	14.10	2.433325	0.43224	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000333933;ENST00000434397	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	2.37	2.37	0.29283	.	0.250013	0.35013	N	0.003509	T	0.36248	0.0960	L	0.60455	1.87	0.33180	D	0.549455	P	0.41188	0.741	B	0.28916	0.096	T	0.59663	-0.7412	10	0.87932	D	0	-10.7942	10.1693	0.42900	0.0:0.0:1.0:0.0	.	143	Q9BPZ2	SPI2B_HUMAN	F	143	ENSP00000275988:S143F;ENSP00000364047:S143F;ENSP00000335008:S143F;ENSP00000404314:S143F	ENSP00000275988:S143F	S	-	2	0	SPIN2B	57163360	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	8.015000	0.88690	1.500000	0.48636	0.171000	0.16805	TCT	SPIN2B	-	pfam_Spin_Ssty		0.433	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2B	HGNC	protein_coding	OTTHUMT00000056912.1	G	NM_001006681		57146635	-1	no_errors	ENST00000275988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57146635	G	A	57146635	3	1	92	1	0	0	0	0	1	0	0	0	15084	942	33	1	352	1	SPIN2B	23	57146635	Missense_Mutation	SNP	G	TCGA-EA-A78R-01A-11D-A32I-09		57146635	98123925	83	13302										
GUCY2F	2986	genome.wustl.edu	37	chrX	108696942	108696942	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.30952380952381	26	7.63430211663257e-09	3.41	5.04437869822485	2.83575883575884	0.179888392931549	0.405794746845587	18	ccatttgaatctgtcctcatCaactggttgaatccatggaa	7	10	3	2			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chrX:108696942C>G	ENST00000218006.2	-	4	1470	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	393					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGTCCTCATCAACTGGTTGA	0.438																																																	0													116	90	99					X																	108696942		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1179G>C	X.37:g.108696942C>G	ENSP00000218006:p.Leu393Phe		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L393F	ENST00000218006.2	37	c.1179	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619413	0.03663	.	.	ENSG00000101890	ENST00000218006	D	0.82803	-1.65	3.97	0.166	0.14999	Extracellular ligand-binding receptor (1);	0.479888	0.22991	N	0.053200	T	0.65893	0.2735	L	0.29908	0.895	0.40395	D	0.97958	B	0.12630	0.006	B	0.20577	0.03	T	0.46190	-0.9209	10	0.09843	T	0.71	.	4.7407	0.13012	0.0:0.535:0.1591:0.3059	.	393	P51841	GUC2F_HUMAN	F	393	ENSP00000218006:L393F	ENSP00000218006:L393F	L	-	3	2	GUCY2F	108583598	0.999000	0.42202	0.996000	0.52242	0.980000	0.70556	0.628000	0.24522	-0.106000	0.12110	-0.290000	0.09829	TTG	GUCY2F	-	pfam_ANF_lig-bd_rcpt		0.438	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	C	NM_001522		108696942	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	0.993	G	G	108696942	C	G	108696942	3	3	92	1	0	0	0	0	1	0	0	0	6918	825	29	1	2211	1	GUCY2F	23	108696942	Missense_Mutation	SNP	C	TCGA-EA-A78R-01A-11D-A32I-09	51550307	108696942	46573618	84	13303										
MMEL1	79258	genome.wustl.edu	37	chr1	2528008	2528008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aggggcgcccaccatgctctTgctgtctccagggaacgcct	12	15	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:2528008T>C	ENST00000378412.3	-	14	1554	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	MMEL1_ENST00000502556.1_Missense_Mutation_p.K308E|MMEL1_ENST00000288709.6_Missense_Mutation_p.K456E			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	465						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACCATGCTCTTGCTGTCTCCA	0.672																																																	0													100	79	86					1																	2528008		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1393A>G	1.37:g.2528008T>C	ENSP00000367668:p.Lys465Glu		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.K465E	ENST00000378412.3	37	c.1393	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081401	0.55753	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.80909	-1.43;-1.43;-1.43	4.65	3.43	0.39272	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.090924	0.85682	D	0.000000	D	0.82737	0.5102	M	0.85859	2.78	0.80722	D	1	P	0.51933	0.949	P	0.46685	0.524	D	0.85087	0.0949	10	0.87932	D	0	-33.927	9.1209	0.36786	0.1636:0.0:0.0:0.8364	.	465	Q495T6	MMEL1_HUMAN	E	308;456;465;308	ENSP00000288709:K456E;ENSP00000367668:K465E;ENSP00000422492:K308E	ENSP00000288709:K456E	K	-	1	0	MMEL1	2517868	1.000000	0.71417	0.981000	0.43875	0.602000	0.36980	4.685000	0.61693	1.740000	0.51718	0.459000	0.35465	AAG	MMEL1	-	pfam_Peptidase_M13_N		0.672	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	T	NM_033467		2528008	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2528008	T	C	2528008	3	2	93	1	0	0	0	0	1	0	0	0	9669	1821	63	5	990	5	MMEL1	1	2528008	Missense_Mutation	SNP	T	TCGA-EK-A2GZ-01A-11D-A17W-09		2528008	246722613	1	13304										
ZNF436	80818	genome.wustl.edu	37	chr1	23689691	23689691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ctcttgcttgggatttacctCgttctcactcctgatctcaa	6	13	3	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:23689691C>T	ENST00000314011.4	-	4	320	c.184G>A	c.(184-186)Gag>Aag	p.E62K	ZNF436_ENST00000374608.3_Missense_Mutation_p.E62K	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGATTTACCTCGTTCTCACTC	0.363																																																	0													83	83	83					1																	23689691		2203	4300	6503	SO:0001583	missense	80818			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.184G>A	1.37:g.23689691C>T	ENSP00000313582:p.Glu62Lys		Q658I9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E62K	ENST00000314011.4	37	c.184	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178965	0.38511	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.00801	5.68;5.68;5.68	5.85	5.85	0.93711	Krueppel-associated box (3);	0.101831	0.43416	D	0.000578	T	0.00695	0.0023	N	0.10664	0.02	0.38178	D	0.939535	B	0.25007	0.116	B	0.17979	0.02	T	0.59467	-0.7449	10	0.06494	T	0.89	-19.1839	16.0378	0.80642	0.0:1.0:0.0:0.0	.	62	Q9C0F3	ZN436_HUMAN	K	62	ENSP00000313582:E62K;ENSP00000363737:E62K;ENSP00000363736:E62K	ENSP00000313582:E62K	E	-	1	0	ZNF436	23562278	0.010000	0.17322	0.973000	0.42090	0.976000	0.68499	0.631000	0.24568	2.941000	0.99782	0.655000	0.94253	GAG	ZNF436	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.363	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	C	NM_030634		23689691	-1	no_errors	ENST00000314011	ensembl	human	known	70_37	missense	SNP	0.956	T	T	23689691	C	T	23689691	3	4	93	1	0	0	0	0	1	0	0	0	17939	893	31	1	1232	1	ZNF436	1	23689691	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	21161683	23689691	225560930	2	13305										
CD164L2	388611	genome.wustl.edu	37	chr1	27709084	27709084	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tcacagacctccagctgtttGcaggccccttggaccgccgg	11	16	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:27709084G>T	ENST00000374030.1	-	2	302	c.162C>A	c.(160-162)tgC>tgA	p.C54*	CD164L2_ENST00000374025.3_Nonsense_Mutation_p.C54*|CD164L2_ENST00000374027.3_Nonsense_Mutation_p.C54*			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	54						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCTGTTTGCAGGCCCCTT	0.632																																																	0													45	47	46					1																	27709084		2203	4299	6502	SO:0001587	stop_gained	388611			AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.162C>A	1.37:g.27709084G>T	ENSP00000363142:p.Cys54*		B2RPJ0|Q5JXD6	Nonsense_Mutation	SNP	pfam_CD164_MGC24	p.C54*	ENST00000374030.1	37	c.162		1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074215	0.55646	.	.	ENSG00000174950	ENST00000374030;ENST00000374027;ENST00000374025	.	.	.	4.64	2.74	0.32292	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5878	5.5185	0.16919	0.102:0.0:0.7019:0.1961	.	.	.	.	X	54	.	ENSP00000363137:C54X	C	-	3	2	CD164L2	27581671	0.999000	0.42202	0.795000	0.32087	0.502000	0.33828	2.460000	0.45031	0.557000	0.29117	0.555000	0.69702	TGC	CD164L2	-	pfam_CD164_MGC24		0.632	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CD164L2	HGNC	protein_coding	OTTHUMT00000009518.1	G	NM_207397		27709084	-1	no_errors	ENST00000374030	ensembl	human	known	70_37	nonsense	SNP	0.918	T	T	27709084	G	T	27709084	4	4	93	1	0	0	0	0	0	1	0	0	2975	1311	46	4	375	4	CD164L2	1	27709084	Nonsense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	4019393	27709084	221541537	3	13306										
FAM73A	374986	genome.wustl.edu	37	chr1	78245408	78245408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gggcaggccagctgtacctgGcctggagctccaggtacagg	16	12	0	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:78245408G>T	ENST00000370791.3	+	1	100	c.68G>T	c.(67-69)gGc>gTc	p.G23V	RNA5SP21_ENST00000410917.1_RNA|FAM73A_ENST00000443751.2_Missense_Mutation_p.G23V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	23						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGTACCTGGCCTGGAGCTC	0.692																																																	0													5	5	5					1																	78245408		2143	4182	6325	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.68G>T	1.37:g.78245408G>T	ENSP00000359827:p.Gly23Val		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.G23V	ENST00000370791.3	37	c.68	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897885	0.33535	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.39056	1.77;1.1	4.61	0.387	0.16259	.	0.980175	0.08281	N	0.969998	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.21917	0.037;0.017;0.017	T	0.39563	-0.9608	10	0.87932	D	0	8.6355	7.5628	0.27862	0.0968:0.5115:0.3917:0.0	.	23;23;23	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	23	ENSP00000359827:G23V;ENSP00000393675:G23V	ENSP00000359827:G23V	G	+	2	0	FAM73A	78017996	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.449000	0.21744	0.201000	0.20466	-0.172000	0.13284	GGC	FAM73A	-	NULL		0.692	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	G	NM_198549		78245408	1	no_errors	ENST00000370791	ensembl	human	known	70_37	missense	SNP	0.000	T	T	78245408	G	T	78245408	3	4	93	1	0	0	0	0	1	0	0	0	5635	1203	42	4	70	4	FAM73A	1	78245408	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	50536324	78245408	171005213	4	13307										
HRNR	388697	genome.wustl.edu	37	chr1	152189050	152189050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tgctgaccatagcgggaagaCgaacgtgagctagatccgtg	14	9	0	4	rs576397826	byFrequency	TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:152189050C>T	ENST00000368801.2	-	3	5130	c.5055G>A	c.(5053-5055)tcG>tcA	p.S1685S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1685					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCGGGAAGACGAACGTGAGC	0.612													c|||	7	0.00139776	0.0023	0.0043	5008	,	,		20352	0		0.001	False		,,,				2504	0																0													53	1	21					1																	152189050		1031	1668	2699	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5055G>A	1.37:g.152189050C>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1685	ENST00000368801.2	37	c.5055	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152189050	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	T	T	152189050	C	T	152189050	2	4	93	1	0	0	0	0	0	0	0	1	7379	523	19	2		2	HRNR	1	152189050	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	73943642	152189050	97061571	5	13308										
NUP210L	91181	genome.wustl.edu	37	chr1	154018618	154018618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ggaatgtgagcccaggattaGcattgctgaaggagaaaggg	16	5	0	3			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:154018618G>A	ENST00000368559.3	-	27	3694	c.3623C>T	c.(3622-3624)gCt>gTt	p.A1208V	NUP210L_ENST00000271854.3_Missense_Mutation_p.A1208V|NUP210L_ENST00000368553.1_Missense_Mutation_p.A141V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1208					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCAGGATTAGCATTGCTGAA	0.433																																																	0													105	96	99					1																	154018618		1884	4115	5999	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3623C>T	1.37:g.154018618G>A	ENSP00000357547:p.Ala1208Val		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.A1208V	ENST00000368559.3	37	c.3623	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713516	0.89112	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.24723	3.4;1.84;3.18	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000004	T	0.40448	0.1117	M	0.71206	2.165	0.43130	D	0.994863	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.07673	-1.0760	10	0.24483	T	0.36	-13.0745	17.1477	0.86770	0.0:0.0:1.0:0.0	.	1208;1208	E7EP56;Q5VU65	.;P210L_HUMAN	V	1208;141;1208	ENSP00000357547:A1208V;ENSP00000357541:A141V;ENSP00000271854:A1208V	ENSP00000271854:A1208V	A	-	2	0	NUP210L	152285242	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	4.063000	0.57499	2.582000	0.87167	0.650000	0.86243	GCT	NUP210L	-	NULL		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	G	NM_207308		154018618	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	missense	SNP	0.997	A	A	154018618	G	A	154018618	3	1	93	1	0	0	0	0	1	0	0	0	10785	971	34	4	2099	4	NUP210L	1	154018618	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	1829568	154018618	95232003	6	13309										
AQP10	89872	genome.wustl.edu	37	chr1	154296882	154296882	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gcccagagccagctcaggatCtggtgtctgctcaacacaaa	10	13	4	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:154296882C>T	ENST00000324978.3	+	6	872	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	AQP10_ENST00000484864.1_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	278					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTCAGGATCTGGTGTCTGC	0.582											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77	76	76					1																	154296882		2203	4300	6503	SO:0001819	synonymous_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.832C>T	1.37:g.154296882C>T		1762	Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.L278	ENST00000324978.3	37	c.832	CCDS1065.1	1																																																																																			AQP10	-	NULL		0.582	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	C	NM_080429		154296882	1	no_errors	ENST00000324978	ensembl	human	known	70_37	silent	SNP	0.000	T	T	154296882	C	T	154296882	2	4	93	1	0	0	0	0	0	0	0	1	822	912	32	1		1	AQP10	1	154296882	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	278264	154296882	94953739	7	13310										
TPR	7175	genome.wustl.edu	37	chr1	186326620	186326620	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ttgattttgttgttgaagctCttcaatatttctgtaagata	7	4	3	3			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:186326620C>T	ENST00000367478.4	-	14	1929	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	545					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTGAAGCTCTTCAATATTT	0.393			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													153	140	144					1																	186326620		1846	4093	5939	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1633G>A	1.37:g.186326620C>T	ENSP00000356448:p.Glu545Lys		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E545K	ENST00000367478.4	37	c.1633	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.752653	0.96890	.	.	ENSG00000047410	ENST00000367478	T	0.38887	1.11	5.39	5.39	0.77823	.	0.046381	0.85682	D	0.000000	T	0.70561	0.3238	M	0.86651	2.83	0.80722	D	1	P;D	0.69078	0.479;0.997	B;D	0.75020	0.167;0.985	T	0.74711	-0.3573	10	0.59425	D	0.04	.	19.4987	0.95085	0.0:1.0:0.0:0.0	.	545;545	Q15624;P12270	.;TPR_HUMAN	K	545	ENSP00000356448:E545K	ENSP00000356448:E545K	E	-	1	0	TPR	184593243	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.202000	0.77856	2.685000	0.91497	0.591000	0.81541	GAG	TPR	-	NULL		0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186326620	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	T	T	186326620	C	T	186326620	3	4	93	1	0	0	0	0	1	0	0	0	16447	922	32	1	5610	1	TPR	1	186326620	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	32029738	186326620	62924001	8	13311										
PGBD5	79605	genome.wustl.edu	37	chr1	230486817	230486817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aatgaatacaggatcctcatCgatcaggggttcatgtagca	10	8	3	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr1:230486817C>T	ENST00000525115.1	-	3	597	c.574G>A	c.(574-576)Gat>Aat	p.D192N	PGBD5_ENST00000321327.2_Missense_Mutation_p.D291N|PGBD5_ENST00000391860.1_Missense_Mutation_p.D146N			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	192						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGATCCTCATCGATCAGGGGT	0.522																																																	0													93	78	83					1																	230486817		2203	4300	6503	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.574G>A	1.37:g.230486817C>T	ENSP00000431404:p.Asp192Asn		A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.D291N	ENST00000525115.1	37	c.871		1	.	.	.	.	.	.	.	.	.	.	C	34	5.400245	0.96030	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.24;2.21;2.21	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.00780	-1.1569	10	0.35671	T	0.21	-43.8315	20.2985	0.98592	0.0:1.0:0.0:0.0	.	192	Q8N414	PGBD5_HUMAN	N	146;291;192	ENSP00000375733:D146N;ENSP00000322530:D291N;ENSP00000431404:D192N	ENSP00000322530:D291N	D	-	1	0	PGBD5	228553440	1.000000	0.71417	0.952000	0.39060	0.973000	0.67179	7.609000	0.82925	2.793000	0.96121	0.655000	0.94253	GAT	PGBD5	-	NULL		0.522	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230486817	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	missense	SNP	1.000	T	T	230486817	C	T	230486817	3	4	93	1	0	0	0	0	1	0	0	0	11808	884	31	1	813	1	PGBD5	1	230486817	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	44160197	230486817	18763804	9	13312										
NBAS	51594	genome.wustl.edu	37	chr2	15427261	15427261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccagcgggagacactgtaacGttgtgccagagaaatagcaa	12	9	0	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr2:15427261G>A	ENST00000281513.5	-	42	5099	c.5074C>T	c.(5074-5076)Cgt>Tgt	p.R1692C	NBAS_ENST00000441750.1_Missense_Mutation_p.R1572C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1692					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACACTGTAACGTTGTGCCAGA	0.468																																																	0													138	132	134					2																	15427261		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5074C>T	2.37:g.15427261G>A	ENSP00000281513:p.Arg1692Cys		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R1692C	ENST00000281513.5	37	c.5074	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333283	0.60853	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12361	2.69;2.88	5.55	3.67	0.42095	.	0.098253	0.64402	D	0.000001	T	0.35068	0.0919	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.939	T	0.22277	-1.0221	10	0.87932	D	0	.	13.5051	0.61479	0.0:0.0:0.7178:0.2822	.	1572;1692	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	C	1572;1692	ENSP00000413201:R1572C;ENSP00000281513:R1692C	ENSP00000281513:R1692C	R	-	1	0	NBAS	15344712	1.000000	0.71417	0.733000	0.30861	0.435000	0.31806	3.720000	0.54933	1.565000	0.49641	-0.182000	0.12963	CGT	NBAS	-	NULL		0.468	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	G	NM_015909		15427261	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15427261	G	A	15427261	3	1	93	1	0	0	0	0	1	0	0	0	10209	1145	40	2	2085	2	NBAS	2	15427261	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		15427261	227772112	10	13313										
C2orf53	339779	genome.wustl.edu	37	chr2	27361136	27361136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	caagttgtgagaagccccaaGtggggcgcccagggagcact	15	11	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr2:27361136G>T	ENST00000335524.3	-	3	587	c.62C>A	c.(61-63)aCt>aAt	p.T21N		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		21										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCCCCAAGTGGGGCGCCC	0.577																																																	0													57	61	59					2																	27361136		2203	4300	6503	SO:0001583	missense	339779																														ENST00000335524.3:c.62C>A	2.37:g.27361136G>T	ENSP00000335017:p.Thr21Asn		Q86UE2	Missense_Mutation	SNP	NULL	p.T21N	ENST00000335524.3	37	c.62	CCDS1739.1	2	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270714	0.23221	.	.	ENSG00000186143	ENST00000335524	T	0.32272	1.46	4.44	2.63	0.31362	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.20955	0.032	T	0.22068	-1.0227	9	0.51188	T	0.08	-0.0562	5.0281	0.14395	0.1965:0.1724:0.6311:0.0	.	21	Q53SZ7	CB053_HUMAN	N	21	ENSP00000335017:T21N	ENSP00000335017:T21N	T	-	2	0	C2orf53	27214640	0.001000	0.12720	0.001000	0.08648	0.027000	0.11550	0.668000	0.25127	0.430000	0.26230	0.561000	0.74099	ACT	C2orf53	-	NULL		0.577	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf53	HGNC	protein_coding	OTTHUMT00000250188.1	G			27361136	-1	no_errors	ENST00000335524	ensembl	human	known	70_37	missense	SNP	0.000	T	T	27361136	G	T	27361136	3	4	93	1	0	0	0	0	1	0	0	0	2179	1029	36	4	1180	4	C2orf53	2	27361136	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	11933875	27361136	215838237	11	13314										
FSIP2	401024	genome.wustl.edu	37	chr2	186678497	186678497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aaggcatcaaagtatttgaaGatcaagtgaaagaagtcaag	10	4	3	4			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr2:186678497G>A	ENST00000424728.1	+	18	20053	c.20053G>A	c.(20053-20055)Gat>Aat	p.D6685N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6774N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6685										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGTATTTGAAGATCAAGTGAA	0.338																																																	0													73	71	72					2																	186678497		1850	4091	5941	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20053G>A	2.37:g.186678497G>A	ENSP00000401306:p.Asp6685Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D6774N	ENST00000424728.1	37	c.20320		2	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799775	0.50208	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47177	0.85;0.85	5.42	-0.76	0.11041	.	1.970080	0.02073	N	0.051727	T	0.33847	0.0877	L	0.43923	1.385	0.09310	N	1	.	.	.	.	.	.	T	0.03025	-1.1081	8	0.10111	T	0.7	.	1.2466	0.01974	0.2437:0.2735:0.3425:0.1404	.	.	.	.	N	6774;6685	ENSP00000344403:D6774N;ENSP00000401306:D6685N	ENSP00000344403:D6774N	D	+	1	0	FSIP2	186386742	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.395000	0.07287	-0.331000	0.08501	-0.145000	0.13849	GAT	FSIP2	-	NULL		0.338	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186678497	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.000	A	A	186678497	G	A	186678497	3	1	93	1	0	0	0	0	1	0	0	0	6093	942	33	1	20390	1	FSIP2	2	186678497	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	159317361	186678497	56520876	12	13315										
CCDC150	284992	genome.wustl.edu	37	chr2	197565863	197565863	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	agaaggtggaaaaaatcactGaaagtaaaaataaactggcc	9	5	1	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr2:197565863G>T	ENST00000389175.4	+	15	1789	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	CCDC150_ENST00000272831.7_Nonsense_Mutation_p.E220*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	552										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAAATCACTGAAAGTAAAAA	0.313																																																	0													67	60	62					2																	197565863		1808	4067	5875	SO:0001587	stop_gained	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1654G>T	2.37:g.197565863G>T	ENSP00000373827:p.Glu552*		Q6P5U6|Q6P663|Q8N8V5	Nonsense_Mutation	SNP	NULL	p.E552*	ENST00000389175.4	37	c.1654	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.906849	0.98554	.	.	ENSG00000144395	ENST00000272831;ENST00000389175	.	.	.	5.08	3.17	0.36434	.	1.805470	0.03025	N	0.151320	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.3312	5.6408	0.17562	0.1148:0.1981:0.687:0.0	.	.	.	.	X	220;552	.	ENSP00000272831:E220X	E	+	1	0	CCDC150	197274108	0.987000	0.35691	0.766000	0.31476	0.892000	0.51952	1.464000	0.35288	0.739000	0.32628	0.655000	0.94253	GAA	CCDC150	-	NULL		0.313	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	G	NM_001080539		197565863	1	no_errors	ENST00000389175	ensembl	human	known	70_37	nonsense	SNP	0.893	T	T	197565863	G	T	197565863	4	4	93	1	0	0	0	0	0	1	0	0	2790	1291	45	3	1712	3	CCDC150	2	197565863	Nonsense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	10887366	197565863	45633510	13	13316										
ZCWPW2	152098	genome.wustl.edu	37	chr3	28476698	28476698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	atcacatagaattcctgggcGatccccattcaagatcatgg	8	11	3	2	rs370104321		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr3:28476698G>A	ENST00000383768.2	+	4	618	c.430G>A	c.(430-432)Gat>Aat	p.D144N	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.D144N			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	144	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)	p.D144N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						ATTCCTGGGCGATCCCCATTC	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						G	ASN/ASP	0,4406		0,0,2203	111	114	113		430	2.9	1	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZCWPW2	NM_001040432.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	144/357	28476698	1,13005	2203	4300	6503	SO:0001583	missense	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.430G>A	3.37:g.28476698G>A	ENSP00000373278:p.Asp144Asn			Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.D144N	ENST00000383768.2	37	c.430	CCDS33723.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.455621|2.455621	0.43634|0.43634	0.0|0.0	1.16E-4|1.16E-4	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000428875	T;T|.	0.73047|.	-0.71;-0.71|.	6.06|6.06	2.88|2.88	0.33553|0.33553	PWWP (2);|.	0.386348|.	0.25613|.	N|.	0.029471|.	T|T	0.31420|0.31420	0.0796|0.0796	L|L	0.29908|0.29908	0.895|0.895	0.27918|0.27918	N|N	0.938353|0.938353	B|.	0.28470|.	0.213|.	B|.	0.26517|.	0.07|.	T|T	0.20273|0.20273	-1.0280|-1.0280	9|5	.|.	.|.	.|.	-10.0984|-10.0984	6.6991|6.6991	0.23215|0.23215	0.1771:0.1518:0.6711:0.0|0.1771:0.1518:0.6711:0.0	.|.	144|.	Q504Y3|.	ZCPW2_HUMAN|.	N|Q	144|127	ENSP00000373278:D144N;ENSP00000412386:D144N|.	.|.	D|R	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28451702|28451702	0.995000|0.995000	0.38212|0.38212	0.988000|0.988000	0.46212|0.46212	0.967000|0.967000	0.64934|0.64934	1.073000|1.073000	0.30691|0.30691	0.881000|0.881000	0.35993|0.35993	0.650000|0.650000	0.86243|0.86243	GAT|CGA	ZCWPW2	-	pfam_PWWP,pfscan_PWWP		0.383	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCWPW2	HGNC	protein_coding	OTTHUMT00000341318.1	G	XM_087384		28476698	1	no_errors	ENST00000383768	ensembl	human	known	70_37	missense	SNP	0.927	A	A	28476698	G	A	28476698	3	1	93	1	0	0	0	0	1	0	0	0	17628	1058	37	1	436	1	ZCWPW2	3	28476698	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		28476698	169545732	14	13317										
MCM2	4171	genome.wustl.edu	37	chr3	127323781	127323781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gcgccctgcccgcaagcgccGccaggtggagcgggccacgg	17	17	0	0	rs200231306		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr3:127323781G>A	ENST00000265056.7	+	4	699	c.455G>A	c.(454-456)cGc>cAc	p.R152H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	152	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CGCAAGCGCCGCCAGGTGGAG	0.652													G|||	1	0.000199681	0	0	5008	,	,		16017	0.001		0	False		,,,				2504	0																0													36	35	35					3																	127323781		2202	4300	6502	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.455G>A	3.37:g.127323781G>A	ENSP00000265056:p.Arg152His		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase	p.R152H	ENST00000265056.7	37	c.455	CCDS3043.1	3	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	22.5|22.5	4.291682|4.291682	0.80914|0.80914	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.25250	.|1.81	5.29|5.29	4.39|4.39	0.52855|0.52855	.|.	.|0.412070	.|0.27130	.|N	.|0.020791	T|T	0.41673|0.41673	0.1169|0.1169	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;D	.|0.89917	.|0.954;0.979;1.0	.|P;B;D	.|0.75020	.|0.557;0.289;0.985	T|T	0.11641|0.11641	-1.0579|-1.0579	5|10	.|0.33141	.|T	.|0.24	-29.0128|-29.0128	15.0272|15.0272	0.71680|0.71680	0.0:0.0:0.8566:0.1434|0.0:0.0:0.8566:0.1434	.|.	.|133;22;152	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	15|152;56;133	.|ENSP00000265056:R152H	.|ENSP00000265056:R152H	A|R	+|+	1|2	0|0	MCM2|MCM2	128806471|128806471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.244000|7.244000	0.78228|0.78228	1.181000|1.181000	0.42912|0.42912	0.591000|0.591000	0.81541|0.81541	GCC|CGC	MCM2	-	pfam_MCM_2		0.652	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	G			127323781	1	no_errors	ENST00000265056	ensembl	human	known	70_37	missense	SNP	1.000	A	A	127323781	G	A	127323781	3	1	93	1	0	0	0	0	1	0	0	0	9409	1087	38	2	469	2	MCM2	3	127323781	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	98847083	127323781	70698649	15	13318										
SERPINI2	5276	genome.wustl.edu	37	chr3	167183309	167183309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cttcatcattggaattttgaCagttgaaccatttttcttag	6	7	3	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr3:167183309C>T	ENST00000476257.1	-	5	929	c.631G>A	c.(631-633)Gtc>Atc	p.V211I	SERPINI2_ENST00000264677.4_Missense_Mutation_p.V211I|SERPINI2_ENST00000471111.1_Missense_Mutation_p.V211I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.V211I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	211					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GGAATTTTGACAGTTGAACCA	0.343																																																	0													87	86	86					3																	167183309		2203	4300	6503	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.631G>A	3.37:g.167183309C>T	ENSP00000420621:p.Val211Ile			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V211I	ENST00000476257.1	37	c.631	CCDS3200.1	3	.	.	.	.	.	.	.	.	.	.	C	4.984	0.182759	0.09495	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.74	0.296	0.15757	Serpin domain (3);	0.434081	0.24669	N	0.036567	T	0.66867	0.2833	L	0.43646	1.37	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.16289	0.015;0.009	T	0.56360	-0.7992	10	0.39692	T	0.17	.	10.5099	0.44855	0.0:0.6036:0.0:0.3964	.	211;211	B4DDY9;O75830	.;SPI2_HUMAN	I	211	ENSP00000420621:V211I;ENSP00000417692:V211I;ENSP00000264677:V211I;ENSP00000419407:V211I	ENSP00000264677:V211I	V	-	1	0	SERPINI2	168666003	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.084000	0.14891	0.094000	0.17404	-0.136000	0.14681	GTC	SERPINI2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.343	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	C	NM_006217		167183309	-1	no_errors	ENST00000264677	ensembl	human	known	70_37	missense	SNP	0.000	T	T	167183309	C	T	167183309	3	4	93	1	0	0	0	0	1	0	0	0	14149	478	17	4	610	4	SERPINI2	3	167183309	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	39859528	167183309	30839121	16	13319										
KIT	3815	genome.wustl.edu	37	chr4	55594198	55594198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gagtgcccatttgacagaacGggaagccctcatgtctgaac	11	11	2	3			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr4:55594198G>A	ENST00000288135.5	+	13	1998	c.1901G>A	c.(1900-1902)cGg>cAg	p.R634Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGACAGAACGGGAAGCCCTC	0.448		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													141	129	133					4																	55594198		2203	4300	6503	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1901G>A	4.37:g.55594198G>A	ENSP00000288135:p.Arg634Gln		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R634Q	ENST00000288135.5	37	c.1901	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545201	0.45280	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82526	-1.62;-1.62	6.06	5.21	0.72293	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000061	T	0.82089	0.4961	N	0.16233	0.39	0.22541	N	0.999009	D;D;D	0.89917	0.992;0.984;1.0	P;B;D	0.66497	0.512;0.427;0.944	T	0.74472	-0.3654	10	0.52906	T	0.07	.	10.8889	0.46984	0.0666:0.0:0.8015:0.1319	.	141;630;634	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	Q	634;630	ENSP00000288135:R634Q;ENSP00000390987:R630Q	ENSP00000288135:R634Q	R	+	2	0	KIT	55288955	1.000000	0.71417	0.315000	0.25238	0.161000	0.22273	4.157000	0.58144	1.550000	0.49438	0.655000	0.94253	CGG	KIT	-	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,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.448	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	G			55594198	1	no_errors	ENST00000288135	ensembl	human	known	70_37	missense	SNP	0.223	A	A	55594198	G	A	55594198	3	1	93	1	0	0	0	0	1	0	0	0	8349	1116	39	2	1951	2	KIT	4	55594198	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		55594198	135560078	17	13320										
ALPK1	80216	genome.wustl.edu	37	chr4	113360956	113360956	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aaacagaatacaaagccacaGaatatggcttggcctatggc	9	9	0	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr4:113360956G>A	ENST00000458497.1	+	14	3745	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	ALPK1_ENST00000177648.9_Missense_Mutation_p.E1156K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E1078K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1156	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAAGCCACAGAATATGGCTT	0.353																																																	0													64	64	64					4																	113360956		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3466G>A	4.37:g.113360956G>A	ENSP00000398048:p.Glu1156Lys		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E1156K	ENST00000458497.1	37	c.3466	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538099	0.65085	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.06294	3.32;3.32;3.32	5.05	5.05	0.67936	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.182111	0.48286	D	0.000193	T	0.11153	0.0272	L	0.31120	0.905	0.35137	D	0.768506	P;P;P	0.49447	0.663;0.924;0.711	B;P;P	0.56823	0.323;0.807;0.451	T	0.22836	-1.0205	10	0.34782	T	0.22	-19.544	11.8586	0.52453	0.0806:0.0:0.9194:0.0	.	1078;1078;1156	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	K	1156;1156;1078	ENSP00000398048:E1156K;ENSP00000177648:E1156K;ENSP00000426044:E1078K	ENSP00000177648:E1156K	E	+	1	0	ALPK1	113580405	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.368000	0.52357	2.344000	0.79699	0.544000	0.68410	GAA	ALPK1	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase		0.353	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	G	NM_025144		113360956	1	no_errors	ENST00000177648	ensembl	human	known	70_37	missense	SNP	0.978	A	A	113360956	G	A	113360956	3	1	93	1	0	0	0	0	1	0	0	0	544	943	33	1	3512	1	ALPK1	4	113360956	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	57766758	113360956	77793320	18	13321										
GHR	2690	genome.wustl.edu	37	chr5	42719347	42719347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccactgctgctgggaggcctGggacaggagaacatgttcca	14	11	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr5:42719347G>A	ENST00000230882.4	+	10	1928	c.1738G>A	c.(1738-1740)Ggg>Agg	p.G580R	GHR_ENST00000357703.3_Missense_Mutation_p.G558R|GHR_ENST00000537449.1_Missense_Mutation_p.G393R	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	580					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGGAGGCCTGGGACAGGAGA	0.502																																																	0													96	81	86					5																	42719347		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1738G>A	5.37:g.42719347G>A	ENSP00000230882:p.Gly580Arg		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G580R	ENST00000230882.4	37	c.1738	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717117	0.30413	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.36878	1.23;1.23;1.23	6.08	5.21	0.72293	.	0.409721	0.31760	N	0.007118	T	0.58018	0.2093	M	0.84948	2.725	0.09310	N	0.999998	D	0.55605	0.972	D	0.68192	0.956	T	0.53732	-0.8397	10	0.24483	T	0.36	-1.3023	9.7107	0.40243	0.0697:0.0:0.7891:0.1412	.	580	P10912	GHR_HUMAN	R	580;558;393	ENSP00000230882:G580R;ENSP00000350335:G558R;ENSP00000442206:G393R	ENSP00000230882:G580R	G	+	1	0	GHR	42755104	0.244000	0.23889	0.131000	0.22000	0.698000	0.40448	2.286000	0.43496	2.894000	0.99253	0.591000	0.81541	GGG	GHR	-	NULL		0.502	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	G	NM_000163		42719347	1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	0.189	A	A	42719347	G	A	42719347	3	1	93	1	0	0	0	0	1	0	0	0	6390	1348	47	4	1772	4	GHR	5	42719347	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		42719347	138195913	19	13322										
PCDHA11	56138	genome.wustl.edu	37	chr5	140250026	140250026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gtatccgtggaggtggccgaCgtgaacgacaatgcgcctgc	15	11	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr5:140250026C>T	ENST00000398640.2	+	1	1338	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCCGACGTGAACGACA	0.637																																																	0													138	143	141					5																	140250026		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1338C>T	5.37:g.140250026C>T			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D446	ENST00000398640.2	37	c.1338	CCDS47284.1	5																																																																																			PCDHA11	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	C	NM_018902		140250026	1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140250026	C	T	140250026	2	4	93	1	0	0	0	0	0	0	0	1	11545	535	19	2		2	PCDHA11	5	140250026	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	97530679	140250026	40665234	20	13323										
PCYOX1L	78991	genome.wustl.edu	37	chr5	148747993	148747993	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	attactcagtgcagacagctGagtggcaggcccatcccctc	10	14	1	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr5:148747993G>C	ENST00000274569.4	+	6	1323	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.E331Q	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	421					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACAGCTGAGTGGCAGGC	0.622																																					Ovarian(62;1136 1477 27277 27495)												0													70	73	72					5																	148747993		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1261G>C	5.37:g.148747993G>C	ENSP00000274569:p.Glu421Gln		Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.E421Q	ENST00000274569.4	37	c.1261	CCDS4296.1	5	.	.	.	.	.	.	.	.	.	.	G	8.964	0.971179	0.18659	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14893	2.47;2.47	5.51	4.6	0.57074	Prenylcysteine lyase (1);	0.108709	0.64402	D	0.000008	T	0.15305	0.0369	L	0.33485	1.01	0.47245	D	0.999367	B;B;B	0.28233	0.204;0.077;0.134	B;B;B	0.30105	0.111;0.064;0.062	T	0.07888	-1.0749	10	0.16420	T	0.52	-32.391	17.9533	0.89061	0.0:0.1311:0.8689:0.0	.	303;331;421	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	Q	421;331	ENSP00000274569:E421Q;ENSP00000428512:E331Q	ENSP00000274569:E421Q	E	+	1	0	PCYOX1L	148728186	1.000000	0.71417	0.969000	0.41365	0.683000	0.39861	5.255000	0.65462	2.577000	0.86979	0.561000	0.74099	GAG	PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.622	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2	G	NM_024028		148747993	1	no_errors	ENST00000274569	ensembl	human	known	70_37	missense	SNP	0.936	C	C	148747993	G	C	148747993	3	2	93	1	0	0	0	0	1	0	0	0	11633	1291	45	1	1283	1	PCYOX1L	5	148747993	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	8497967	148747993	32167267	21	13324										
SPARC	6678	genome.wustl.edu	37	chr5	151049234	151049234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aggacactcacatttgcaagGcccgatgtagtccaggtgga	12	10	1	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr5:151049234G>T	ENST00000231061.4	-	6	755	c.442C>A	c.(442-444)Cct>Act	p.P148T	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	148	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CATTTGCAAGGCCCGATGTAG	0.577																																																	0													104	92	96					5																	151049234		2203	4300	6503	SO:0001583	missense	6678				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.442C>A	5.37:g.151049234G>T	ENSP00000231061:p.Pro148Thr		D3DQH9|Q6IBK4	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.P148T	ENST00000231061.4	37	c.442	CCDS4318.1	5	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584265	0.46110	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	T;T;T	0.75477	-0.94;-0.94;-0.94	5.7	4.84	0.62591	Proteinase inhibitor I1, Kazal (2);	0.050417	0.85682	D	0.000000	T	0.75759	0.3893	L	0.60957	1.885	0.80722	D	1	P	0.36027	0.533	B	0.42163	0.378	T	0.77832	-0.2441	10	0.72032	D	0.01	-4.1379	14.7881	0.69819	0.0693:0.0:0.9307:0.0	.	148	P09486	SPRC_HUMAN	T	148;57;57	ENSP00000231061:P148T;ENSP00000440127:P57T;ENSP00000428119:P57T	ENSP00000231061:P148T	P	-	1	0	SPARC	151029427	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.568000	0.53820	1.409000	0.46915	0.655000	0.94253	CCT	SPARC	-	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal		0.577	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARC	HGNC	protein_coding	OTTHUMT00000252430.1	G	NM_003118		151049234	-1	no_errors	ENST00000231061	ensembl	human	known	70_37	missense	SNP	0.995	T	T	151049234	G	T	151049234	3	4	93	1	0	0	0	0	1	0	0	0	15025	1203	42	4	489	4	SPARC	5	151049234	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	2301241	151049234	29866026	22	13325										
CNOT8	9337	genome.wustl.edu	37	chr5	154252151	154252151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gatttgcagaggattggaagGcagcaccaggcaggctcaga	15	8	1	2	rs374069510		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr5:154252151G>A	ENST00000517876.1	+	7	1145	c.669G>A	c.(667-669)agG>agA	p.R223R	CNOT8_ENST00000524105.1_Silent_p.R59R|CNOT8_ENST00000521450.1_Silent_p.R117R|CNOT8_ENST00000403027.2_Silent_p.R223R|CNOT8_ENST00000285896.6_Silent_p.R223R|CNOT8_ENST00000520671.1_Silent_p.R117R|CNOT8_ENST00000523698.1_Silent_p.R117R|CNOT8_ENST00000519404.1_Silent_p.R169R|CNOT8_ENST00000521583.1_Silent_p.R117R			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	223					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATTGGAAGGCAGCACCAGG	0.478																																					NSCLC(140;1804 1895 27149 29895 35312)												0								G		0,4406		0,0,2203	129	121	124		669	4.2	1	5		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNOT8	NM_004779.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		223/293	154252151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.669G>A	5.37:g.154252151G>A			B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Silent	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.R223	ENST00000517876.1	37	c.669	CCDS4329.1	5																																																																																			CNOT8	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.478	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	G	NM_004779		154252151	1	no_errors	ENST00000285896	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154252151	G	A	154252151	2	1	93	1	0	0	0	0	0	0	0	1	3630	1194	42	4		4	CNOT8	5	154252151	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	3202917	154252151	26663109	23	13326										
CNOT8	9337	genome.wustl.edu	37	chr5	154252202	154252202	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	acaggaatggctttctttagGatgaaagaggtaagcttcct	11	6	1	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr5:154252202G>C	ENST00000517876.1	+	7	1196	c.720G>C	c.(718-720)agG>agC	p.R240S	CNOT8_ENST00000524105.1_Missense_Mutation_p.R76S|CNOT8_ENST00000521450.1_Missense_Mutation_p.R134S|CNOT8_ENST00000403027.2_Missense_Mutation_p.R240S|CNOT8_ENST00000285896.6_Missense_Mutation_p.R240S|CNOT8_ENST00000520671.1_Missense_Mutation_p.R134S|CNOT8_ENST00000523698.1_Missense_Mutation_p.R134S|CNOT8_ENST00000519404.1_Missense_Mutation_p.R186S|CNOT8_ENST00000521583.1_Missense_Mutation_p.R134S			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	240					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTTCTTTAGGATGAAAGAGG	0.502																																					NSCLC(140;1804 1895 27149 29895 35312)												0													89	85	86					5																	154252202		2203	4300	6503	SO:0001583	missense	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.720G>C	5.37:g.154252202G>C	ENSP00000430493:p.Arg240Ser		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.R240S	ENST00000517876.1	37	c.720	CCDS4329.1	5	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033584	0.54896	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000521450;ENST00000403027;ENST00000524105;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583;ENST00000519404;ENST00000518775	T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.95	5.09	0.68999	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	L	0.33339	1.005	0.58432	D	0.999999	B;P	0.36183	0.387;0.542	B;B	0.39771	0.309;0.309	T	0.29088	-1.0023	10	0.66056	D	0.02	-19.6801	11.9373	0.52880	0.1494:0.0:0.8506:0.0	.	186;240	B7Z8R1;Q9UFF9	.;CNOT8_HUMAN	S	134;240;134;240;76;240;217;134;134;186;186	ENSP00000428565:R134S;ENSP00000430493:R240S;ENSP00000431034:R134S;ENSP00000384747:R240S;ENSP00000429576:R76S;ENSP00000285896:R240S;ENSP00000428305:R134S;ENSP00000429882:R134S;ENSP00000430833:R186S;ENSP00000429394:R186S	ENSP00000285896:R240S	R	+	3	2	CNOT8	154232395	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.719000	0.47244	1.526000	0.49068	0.655000	0.94253	AGG	CNOT8	-	superfamily_RNaseH-like_dom		0.502	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	G	NM_004779		154252202	1	no_errors	ENST00000285896	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154252202	G	C	154252202	3	2	93	1	0	0	0	0	1	0	0	0	3630	1165	41	1	738	1	CNOT8	5	154252202	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	51	154252202	26663058	24	13327										
KIFC1	3833	genome.wustl.edu	37	chr6	33373178	33373178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	agttggaggggctgatccctCgggccctgcggcacctcttc	14	14	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr6:33373178C>T	ENST00000428849.2	+	7	1756	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	436	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTGATCCCTCGGGCCCTGCG	0.582																																																	0													41	43	42					6																	33373178		2203	4300	6503	SO:0001583	missense	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1306C>T	6.37:g.33373178C>T	ENSP00000393963:p.Arg436Trp		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R436W	ENST00000428849.2	37	c.1306	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064953	0.55432	.	.	ENSG00000237649	ENST00000428849	T	0.52983	0.64	5.08	3.19	0.36642	Kinesin, motor domain (4);	0.063724	0.64402	D	0.000010	T	0.76622	0.4013	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84613	0.0679	10	0.87932	D	0	-10.0117	11.2574	0.49063	0.4549:0.5451:0.0:0.0	.	428;436	B4E063;Q9BW19	.;KIFC1_HUMAN	W	436	ENSP00000393963:R436W	ENSP00000393963:R436W	R	+	1	2	KIFC1	33481156	0.490000	0.26012	0.998000	0.56505	0.715000	0.41141	0.845000	0.27668	1.337000	0.45525	0.655000	0.94253	CGG	KIFC1	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.582	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	C	NM_002263		33373178	1	no_errors	ENST00000428849	ensembl	human	known	70_37	missense	SNP	0.974	T	T	33373178	C	T	33373178	3	4	93	1	0	0	0	0	1	0	0	0	8332	875	31	1	1332	1	KIFC1	6	33373178	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		33373178	137741889	25	13328										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34826295	34826295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	taccttgaattttgtagcccCcttccccctgtccatttggg	7	14	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr6:34826295C>T	ENST00000192788.5	+	14	2333	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P721L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	721							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.P721L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTTGTAGCCCCCTTCCCCCTG	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											64	67	66					6																	34826295		1892	4103	5995	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2162C>T	6.37:g.34826295C>T	ENSP00000192788:p.Pro721Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.P721L	ENST00000192788.5	37	c.2162	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506921	0.64410	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08807	3.05;3.05	5.55	5.55	0.83447	.	0.124289	0.56097	D	0.000039	T	0.06234	0.0161	L	0.46157	1.445	0.80722	D	1	P	0.42785	0.79	B	0.37650	0.255	T	0.13469	-1.0508	10	0.87932	D	0	-11.7106	19.5532	0.95330	0.0:1.0:0.0:0.0	.	721	Q6BDS2	URFB1_HUMAN	L	721	ENSP00000192788:P721L;ENSP00000400628:P721L	ENSP00000192788:P721L	P	+	2	0	UHRF1BP1	34934273	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	5.753000	0.68736	2.624000	0.88883	0.585000	0.79938	CCC	UHRF1BP1	-	NULL		0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34826295	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34826295	C	T	34826295	3	4	93	1	0	0	0	0	1	0	0	0	16999	623	22	4	2216	4	UHRF1BP1	6	34826295	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	1453117	34826295	136288772	26	13329										
DEF6	50619	genome.wustl.edu	37	chr6	35288970	35288970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cttctctctgccagataagcGtccggtcaccagcagctcct	8	16	3	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr6:35288970G>A	ENST00000316637.5	+	11	1684	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H	DEF6_ENST00000542066.1_Missense_Mutation_p.R305H	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	560						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CCAGATAAGCGTCCGGTCACC	0.632																																																	0													169	174	172					6																	35288970		2203	4300	6503	SO:0001583	missense	50619			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1679G>A	6.37:g.35288970G>A	ENSP00000319831:p.Arg560His		Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R560H	ENST00000316637.5	37	c.1679	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339881	0.81911	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.24908	1.83;3.42	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.98;0.98	T	0.25433	-1.0132	10	0.56958	D	0.05	-13.5522	15.9572	0.79896	0.0:0.0:1.0:0.0	.	305;560;560	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	H	305;560	ENSP00000442166:R305H;ENSP00000319831:R560H	ENSP00000319831:R560H	R	+	2	0	DEF6	35396948	1.000000	0.71417	0.962000	0.40283	0.944000	0.59088	5.968000	0.70413	2.539000	0.85634	0.561000	0.74099	CGT	DEF6	-	NULL		0.632	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	G	NM_022047		35288970	1	no_errors	ENST00000316637	ensembl	human	known	70_37	missense	SNP	0.996	A	A	35288970	G	A	35288970	3	1	93	1	0	0	0	0	1	0	0	0	4391	1145	40	2	1721	2	DEF6	6	35288970	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	462675	35288970	135826097	27	13330										
ZNF292	23036	genome.wustl.edu	37	chr6	87964521	87964521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ttaaacgtgcttgtcaactgAgtgaatttcttattgagcct	8	7	2	3			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr6:87964521A>G	ENST00000369577.3	+	8	1217	c.1174A>G	c.(1174-1176)Agt>Ggt	p.S392G	ZNF292_ENST00000339907.4_Missense_Mutation_p.S387G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	392						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTGTCAACTGAGTGAATTTCT	0.368																																																	0													125	117	120					6																	87964521		1902	4130	6032	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1174A>G	6.37:g.87964521A>G	ENSP00000358590:p.Ser392Gly		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S392G	ENST00000369577.3	37	c.1174	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631241	0.67015	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.48201	0.82;0.82	5.92	5.92	0.95590	.	0.041757	0.85682	D	0.000000	T	0.42063	0.1186	L	0.38175	1.15	0.44728	D	0.997723	D	0.63046	0.992	P	0.52627	0.704	T	0.45848	-0.9233	10	0.87932	D	0	.	16.3604	0.83263	1.0:0.0:0.0:0.0	.	392	O60281	ZN292_HUMAN	G	392;387	ENSP00000358590:S392G;ENSP00000342847:S387G	ENSP00000342847:S387G	S	+	1	0	ZNF292	88021240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.260000	0.74910	0.528000	0.53228	AGT	ZNF292	-	NULL		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	A	NM_015021		87964521	1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87964521	A	G	87964521	3	3	93	1	0	0	0	0	1	0	0	0	17856	304	11	5	1204	5	ZNF292	6	87964521	Missense_Mutation	SNP	A	TCGA-EK-A2GZ-01A-11D-A17W-09	52675551	87964521	83150546	28	13331										
MLLT4	4301	genome.wustl.edu	37	chr6	168351979	168351979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	agtgatatgtggataaatcaGagctcctcactggactccag	10	9	2	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr6:168351979G>A	ENST00000447894.2	+	29	3924	c.3924G>A	c.(3922-3924)caG>caA	p.Q1308Q	MLLT4_ENST00000351017.4_Silent_p.Q1315Q|MLLT4_ENST00000400822.3_Silent_p.Q1307Q|MLLT4_ENST00000344191.4_Silent_p.Q1308Q|MLLT4_ENST00000392108.3_Silent_p.Q1308Q|MLLT4_ENST00000366806.2_Silent_p.Q1308Q|MLLT4_ENST00000392112.1_Silent_p.Q1291Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1308					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGATAAATCAGAGCTCCTCAC	0.502			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													92	100	97					6																	168351979		2203	4300	6503	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3924G>A	6.37:g.168351979G>A			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q1308	ENST00000447894.2	37	c.3924		6																																																																																			MLLT4	-	NULL		0.502	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168351979	1	no_errors	ENST00000366806	ensembl	human	known	70_37	silent	SNP	1.000	A	A	168351979	G	A	168351979	2	1	93	1	0	0	0	0	0	0	0	1	9652	933	33	1		1	MLLT4	6	168351979	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	80387458	168351979	2763088	29	13332										
ICA1	3382	genome.wustl.edu	37	chr7	8272304	8272304	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gctttaataaaggcctgcttCgtctcccaatatttctgttg	7	10	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr7:8272304C>T	ENST00000402384.3	-	3	365	c.99G>A	c.(97-99)acG>acA	p.T33T	ICA1_ENST00000407906.1_Silent_p.T33T|ICA1_ENST00000265577.7_Silent_p.T32T|ICA1_ENST00000396675.3_Silent_p.T33T|ICA1_ENST00000406470.2_Silent_p.T33T|ICA1_ENST00000422063.2_Silent_p.T33T|ICA1_ENST00000401396.1_Silent_p.T21T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	33					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.T33T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AGGCCTGCTTCGTCTCCCAAT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											184	158	167					7																	8272304		2203	4300	6503	SO:0001819	synonymous_variant	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.99G>A	7.37:g.8272304C>T			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.T33	ENST00000402384.3	37	c.99	CCDS34602.1	7																																																																																			ICA1	-	pfam_Arfaptin_homology_dom		0.428	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8272304	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	silent	SNP	0.045	T	T	8272304	C	T	8272304	2	4	93	1	0	0	0	0	0	0	0	1	7497	871	31	1		1	ICA1	7	8272304	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		8272304	150866359	30	13333										
PRR15	222171	genome.wustl.edu	37	chr7	29606289	29606289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cccggaggcgggcaggtcccCggaggaggcaggctttcctg	18	13	0	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr7:29606289C>T	ENST00000319694.2	+	2	1056	c.344C>T	c.(343-345)cCg>cTg	p.P115L		NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	115			P -> S (in dbSNP:rs10271996).		multicellular organismal development (GO:0007275)					endometrium(1)|lung(1)|skin(1)	3						GGCAGGTCCCCGGAGGAGGCA	0.662																																																	0													7	8	8					7																	29606289		2181	4264	6445	SO:0001583	missense	222171			BC029131	CCDS5421.1	7p15.1	2006-08-21			ENSG00000176532	ENSG00000176532			22310	protein-coding gene	gene with protein product						12477932	Standard	NM_175887		Approved		uc003tac.1	Q8IV56	OTTHUMG00000128555	ENST00000319694.2:c.344C>T	7.37:g.29606289C>T	ENSP00000317836:p.Pro115Leu			Missense_Mutation	SNP	NULL	p.P115L	ENST00000319694.2	37	c.344	CCDS5421.1	7	.	.	.	.	.	.	.	.	.	.	C	9.245	1.039384	0.19669	.	.	ENSG00000176532	ENST00000319694	T	0.50277	0.75	4.63	1.35	0.21983	.	1.228850	0.05969	N	0.642086	T	0.39200	0.1069	L	0.47716	1.5	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.29882	-0.9997	10	0.42905	T	0.14	7.0E-4	4.5141	0.11926	0.3703:0.5116:0.0:0.1181	.	115	Q8IV56	PRR15_HUMAN	L	115	ENSP00000317836:P115L	ENSP00000317836:P115L	P	+	2	0	PRR15	29572814	0.001000	0.12720	0.006000	0.13384	0.374000	0.29953	0.636000	0.24644	0.445000	0.26639	0.491000	0.48974	CCG	PRR15	-	NULL		0.662	PRR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR15	HGNC	protein_coding	OTTHUMT00000250402.2	C	NM_175887		29606289	1	no_errors	ENST00000319694	ensembl	human	known	70_37	missense	SNP	0.005	T	T	29606289	C	T	29606289	3	4	93	1	0	0	0	0	1	0	0	0	12614	652	23	2	346	2	PRR15	7	29606289	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	21333985	29606289	129532374	31	13334										
RSBN1L	222194	genome.wustl.edu	37	chr7	77326305	77326305	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gagaggaggaggcacggtctCggtggggcccgagaggccgg	22	9	1	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr7:77326305C>T	ENST00000334955.8	+	1	546	c.519C>T	c.(517-519)ctC>ctT	p.L173L	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	173						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCACGGTCTCGGTGGGGCCC	0.741																																																	0													4	4	4					7																	77326305		1794	3977	5771	SO:0001819	synonymous_variant	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.519C>T	7.37:g.77326305C>T			C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	NULL	p.L173	ENST00000334955.8	37	c.519	CCDS43607.1	7																																																																																			RSBN1L	-	NULL		0.741	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	C	NM_198467		77326305	1	no_errors	ENST00000334955	ensembl	human	known	70_37	silent	SNP	0.929	T	T	77326305	C	T	77326305	2	4	93	1	0	0	0	0	0	0	0	1	13727	871	31	1		1	RSBN1L	7	77326305	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	47720016	77326305	81812358	32	13335										
CPA1	1357	genome.wustl.edu	37	chr7	130023300	130023300	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	atccattcccgggagtgggtCacccaggccagtggggtctg	15	12	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr7:130023300C>T	ENST00000011292.3	+	5	702	c.552C>T	c.(550-552)gtC>gtT	p.V184V	CPA1_ENST00000484324.1_Silent_p.V96V	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	184					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGGAGTGGGTCACCCAGGCCA	0.632																																																	0													57	63	61					7																	130023300		2203	4300	6503	SO:0001819	synonymous_variant	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.552C>T	7.37:g.130023300C>T			A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.V184	ENST00000011292.3	37	c.552	CCDS5820.1	7																																																																																			CPA1	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14		0.632	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	C	NM_001868		130023300	1	no_errors	ENST00000011292	ensembl	human	known	70_37	silent	SNP	1.000	T	T	130023300	C	T	130023300	2	4	93	1	0	0	0	0	0	0	0	1	3794	813	29	1		1	CPA1	7	130023300	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	52696995	130023300	29115363	33	13336										
KCNU1	157855	genome.wustl.edu	37	chr8	36780037	36780037	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccaacattcactttattgaaCagcttggtggactggaaggg	11	8	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr8:36780037C>T	ENST00000399881.3	+	24	2663	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	876					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTTTATTGAACAGCTTGGTGG	0.448																																																	0													135	133	134					8																	36780037		1927	4132	6059	SO:0001587	stop_gained	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2626C>T	8.37:g.36780037C>T	ENSP00000382770:p.Gln876*			Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.Q876*	ENST00000399881.3	37	c.2626	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.703844	0.96812	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.32	5.32	0.75619	.	0.323197	0.23373	U	0.048881	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.8866	12.3074	0.54910	0.0:0.8297:0.1703:0.0	.	.	.	.	X	876	.	ENSP00000382770:Q876X	Q	+	1	0	KCNU1	36899195	0.244000	0.23889	0.996000	0.52242	0.363000	0.29612	1.862000	0.39448	2.485000	0.83878	0.655000	0.94253	CAG	KCNU1	-	NULL		0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	C	NM_001031836		36780037	1	no_errors	ENST00000399881	ensembl	human	known	70_37	nonsense	SNP	0.761	T	T	36780037	C	T	36780037	4	4	93	1	0	0	0	0	0	1	0	0	8113	479	17	4	2720	4	KCNU1	8	36780037	Nonsense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		36780037	109583985	34	13337										
TOX	9760	genome.wustl.edu	37	chr8	59872530	59872530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ctggcacatagtcctggctcGgctctgtcatgctcatatac	9	13	3	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr8:59872530G>A	ENST00000361421.1	-	2	360	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	47						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTCCTGGCTCGGCTCTGTCAT	0.388																																					Pancreas(161;610 1969 17913 21374 22725)												0													96	90	92					8																	59872530		2203	4300	6503	SO:0001583	missense	9760				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.140C>T	8.37:g.59872530G>A	ENSP00000354842:p.Pro47Leu		Q96AV5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P47L	ENST00000361421.1	37	c.140	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481422	0.63849	.	.	ENSG00000198846	ENST00000361421	T	0.11930	2.73	5.88	5.88	0.94601	.	0.087598	0.50627	D	0.000117	T	0.33294	0.0858	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00197	-1.1930	9	.	.	.	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	47	O94900	TOX_HUMAN	L	47	ENSP00000354842:P47L	.	P	-	2	0	TOX	60035084	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.842000	0.86851	2.778000	0.95560	0.655000	0.94253	CCG	TOX	-	NULL		0.388	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	G	NM_014729		59872530	-1	no_errors	ENST00000361421	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59872530	G	A	59872530	3	1	93	1	0	0	0	0	1	0	0	0	16408	1116	39	2	1472	2	TOX	8	59872530	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	23092493	59872530	86491492	35	13338										
ADCK5	203054	genome.wustl.edu	37	chr8	145616352	145616352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aggtggatgagttgttccttGaggacttccaggccctcccc	12	12	0	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr8:145616352G>A	ENST00000308860.6	+	6	606	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	188	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTTGTTCCTTGAGGACTTCCA	0.632																																																	0													59	57	58					8																	145616352		2203	4300	6503	SO:0001583	missense	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.562G>A	8.37:g.145616352G>A	ENSP00000310547:p.Glu188Lys		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E188K	ENST00000308860.6	37	c.562	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372229	0.61624	.	.	ENSG00000173137	ENST00000308860	T	0.77877	-1.13	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.063208	0.64402	D	0.000010	T	0.71484	0.3345	L	0.43646	1.37	0.80722	D	1	B	0.28801	0.223	B	0.34779	0.189	T	0.65693	-0.6106	10	0.13853	T	0.58	-22.7204	14.196	0.65672	0.0:0.0:1.0:0.0	.	188	Q3MIX3	ADCK5_HUMAN	K	188	ENSP00000310547:E188K	ENSP00000310547:E188K	E	+	1	0	ADCK5	145587160	1.000000	0.71417	0.826000	0.32828	0.824000	0.46624	7.030000	0.76484	2.419000	0.82065	0.462000	0.41574	GAG	ADCK5	-	superfamily_Kinase-like_dom		0.632	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	G	NM_174922		145616352	1	no_errors	ENST00000308860	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145616352	G	A	145616352	3	1	93	1	0	0	0	0	1	0	0	0	291	1291	45	1	584	1	ADCK5	8	145616352	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	85743822	145616352	747670	36	13339										
CPSF1	29894	genome.wustl.edu	37	chr8	145619868	145619868	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gactggcacaccttctggccGatggccgacaccaggtggcc	13	15	1	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr8:145619868G>A	ENST00000349769.3	-	31	3652	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1186					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTTCTGGCCGATGGCCGACA	0.667																																					NSCLC(133;1088 1848 27708 34777 35269)												0													25	25	25					8																	145619868		2196	4297	6493	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3558C>T	8.37:g.145619868G>A			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.I1186	ENST00000349769.3	37	c.3558	CCDS34966.1	8																																																																																			CPSF1	-	pfam_Cleavage/polyA-sp_fac_asu_C		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145619868	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	0.941	A	A	145619868	G	A	145619868	2	1	93	1	0	0	0	0	0	0	0	1	3829	1048	37	1		1	CPSF1	8	145619868	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	3516	145619868	744154	37	13340										
DAPK1	1612	genome.wustl.edu	37	chr9	90321375	90321375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gatggtgtatggtggcgtgcGcatcgtgcccgtggaacacc	16	10	0	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr9:90321375G>A	ENST00000408954.3	+	26	3724	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H	DAPK1_ENST00000358077.5_Missense_Mutation_p.R1130H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1064H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1130H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1155H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1130					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGTGGCGTGCGCATCGTGCCC	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													114	125	121					9																	90321375		2201	4292	6493	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3389G>A	9.37:g.90321375G>A	ENSP00000386135:p.Arg1130His		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.R1155H	ENST00000408954.3	37	c.3464	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670261	0.67814	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.74315	-0.65;-0.65;-0.79;-0.65;-0.83	5.73	4.84	0.62591	.	0.000000	0.49916	D	0.000137	T	0.71710	0.3372	M	0.68952	2.095	0.80722	D	1	B;B;B	0.32128	0.008;0.357;0.008	B;B;B	0.26693	0.005;0.072;0.005	T	0.73783	-0.3874	10	0.87932	D	0	.	14.8378	0.70197	0.0691:0.0:0.9309:0.0	.	1064;1130;1130	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	H	1130;1130;1155;1130;1064	ENSP00000350785:R1130H;ENSP00000417076:R1130H;ENSP00000418885:R1155H;ENSP00000386135:R1130H;ENSP00000419026:R1064H	ENSP00000350785:R1130H	R	+	2	0	DAPK1	89511195	1.000000	0.71417	0.941000	0.38009	0.516000	0.34256	7.765000	0.85310	1.424000	0.47217	0.561000	0.74099	CGC	DAPK1	-	NULL		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	G	NM_004938		90321375	1	no_errors	ENST00000469640	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90321375	G	A	90321375	3	1	93	1	0	0	0	0	1	0	0	0	4240	1087	38	2	3487	2	DAPK1	9	90321375	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		90321375	50892056	38	13341										
AKAP2	11217	genome.wustl.edu	37	chr9	112899283	112899283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccatcgaggagcagctggacGaggaacatctggagtcgcac	14	11	1	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr9:112899283G>A	ENST00000259318.7	+	2	973	c.766G>A	c.(766-768)Gag>Aag	p.E256K	AKAP2_ENST00000434623.2_Missense_Mutation_p.E345K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E487K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E487K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E345K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E487K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E487K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	256										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GCAGCTGGACGAGGAACATCT	0.542																																																	0													41	45	44					9																	112899283		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.766G>A	9.37:g.112899283G>A	ENSP00000259318:p.Glu256Lys		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E487K	ENST00000259318.7	37	c.1459	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	17.17	3.319987	0.60634	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.72	4.81	0.61882	.	0.382557	0.29152	N	0.012998	T	0.61640	0.2363	M	0.62723	1.935	0.33957	D	0.645113	D;D;D;D;D;P;P;P	0.89917	0.987;0.996;1.0;0.996;0.993;0.901;0.901;0.739	P;P;D;P;P;B;B;B	0.73708	0.588;0.793;0.981;0.793;0.625;0.09;0.09;0.041	T	0.69518	-0.5124	10	0.30078	T	0.28	-27.1291	10.692	0.45877	0.0:0.1432:0.708:0.1488	.	256;345;339;345;346;487;487;305	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	487;487;487;487;345;345;305;256	ENSP00000363654:E487K;ENSP00000305861:E487K;ENSP00000451476:E487K;ENSP00000421522:E487K;ENSP00000404782:E345K;ENSP00000363649:E345K;ENSP00000419268:E305K;ENSP00000259318:E256K	ENSP00000259318:E256K	E	+	1	0	PALM2-AKAP2;AKAP2	111939104	1.000000	0.71417	0.917000	0.36280	0.968000	0.65278	3.188000	0.50958	1.372000	0.46190	0.655000	0.94253	GAG	PALM2-AKAP2	-	NULL		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112899283	1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.926	A	A	112899283	G	A	112899283	3	1	93	1	0	0	0	0	1	0	0	0	451	1059	37	1	1039	1	AKAP2	9	112899283	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	22577908	112899283	28314148	39	13342										
KCNT1	57582	genome.wustl.edu	37	chr9	138657024	138657024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	acttcctgaacgagttctacGcccacccccggctccaggtg	9	17	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr9:138657024G>A	ENST00000263604.3	+	12	1126	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	KCNT1_ENST00000298480.5_Missense_Mutation_p.A395T|KCNT1_ENST00000371757.2_Missense_Mutation_p.A395T|KCNT1_ENST00000491806.2_Missense_Mutation_p.A362T|KCNT1_ENST00000490355.2_Missense_Mutation_p.A376T|KCNT1_ENST00000488444.2_Missense_Mutation_p.A376T|KCNT1_ENST00000487664.1_Missense_Mutation_p.A350T|KCNT1_ENST00000486577.2_Missense_Mutation_p.A356T			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	376					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGAGTTCTACGCCCACCCCCG	0.637																																																	0													160	150	153					9																	138657024		2203	4300	6503	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1126G>A	9.37:g.138657024G>A	ENSP00000263604:p.Ala376Thr		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.A395T	ENST00000263604.3	37	c.1183		9	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879438	0.91740	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.21	4.21	0.49690	NAD(P)-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.52025	0.1709	M	0.78916	2.43	0.80722	D	1	D;D;D;P	0.89917	0.999;0.999;1.0;0.883	D;D;D;B	0.76575	0.988;0.963;0.983;0.371	T	0.59451	-0.7452	10	0.72032	D	0.01	-46.5416	15.713	0.77646	0.0:0.0:1.0:0.0	.	362;395;350;376	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	T	350;395;395;356;362;376;376;376	ENSP00000417851:A350T;ENSP00000298480:A395T;ENSP00000360822:A395T;ENSP00000263604:A376T	ENSP00000263604:A376T	A	+	1	0	KCNT1	137796845	1.000000	0.71417	0.949000	0.38748	0.926000	0.56050	9.285000	0.95894	2.181000	0.69327	0.462000	0.41574	GCC	KCNT1	-	NULL		0.637	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		G	NM_020822		138657024	1	no_errors	ENST00000298480	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138657024	G	A	138657024	3	1	93	1	0	0	0	0	1	0	0	0	8111	1087	38	2	1229	2	KCNT1	9	138657024	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	25757741	138657024	2556407	40	13343										
LARP4B	23185	genome.wustl.edu	37	chr10	871711	871711	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccccggaacttgcctgcttcGaggaggatactgtctgagag	13	11	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr10:871711G>A	ENST00000316157.3	-	11	1265	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	409					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCCTGCTTCGAGGAGGATAC	0.507																																																	0													45	42	43					10																	871711		2203	4300	6503	SO:0001587	stop_gained	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1225C>T	10.37:g.871711G>A	ENSP00000326128:p.Arg409*		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.R409*	ENST00000316157.3	37	c.1225	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.686654	0.97764	.	.	ENSG00000107929	ENST00000316157	.	.	.	5.08	1.38	0.22167	.	0.137023	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-10.3376	7.8148	0.29252	0.0:0.071:0.3034:0.6256	.	.	.	.	X	409	.	ENSP00000326128:R409X	R	-	1	2	LARP4B	861711	0.998000	0.40836	0.727000	0.30756	0.929000	0.56500	1.462000	0.35266	0.070000	0.16634	-0.274000	0.10170	CGA	LARP4B	-	NULL		0.507	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	G	NM_015155		871711	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	nonsense	SNP	0.903	A	A	871711	G	A	871711	4	1	93	1	0	0	0	0	0	1	0	0	8651	1066	37	1	1019	1	LARP4B	10	871711	Nonsense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		871711	134663036	41	13344										
GPRIN2	9721	genome.wustl.edu	37	chr10	46999178	46999178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gcactgtgggcaatgtgtccAccatgggcggcagtgacctg	15	11	0	1	rs7090312	byFrequency	TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr10:46999178A>C	ENST00000374317.1	+	3	571	c.298A>C	c.(298-300)Acc>Ccc	p.T100P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T100P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	100			T -> P (in dbSNP:rs7090312).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAATGTGTCCACCATGGGCGG	0.657																																																	0													29	31	31					10																	46999178		2193	4285	6478	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.298A>C	10.37:g.46999178A>C	ENSP00000363436:p.Thr100Pro		Q5SVF0	Missense_Mutation	SNP	NULL	p.T100P	ENST00000374317.1	37	c.298	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481989	0.44147	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03635	3.86;3.86	5.57	-1.01	0.10169	.	0.659438	0.13433	N	0.388285	T	0.03959	0.0111	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40478	-0.9561	10	0.42905	T	0.14	-4.1201	1.1261	0.01735	0.3231:0.1696:0.3426:0.1646	rs7090312	100	O60269	GRIN2_HUMAN	P	100	ENSP00000363436:T100P;ENSP00000363433:T100P	ENSP00000363433:T100P	T	+	1	0	GPRIN2	46419184	0.000000	0.05858	0.005000	0.12908	0.978000	0.69477	0.003000	0.13083	0.152000	0.19188	0.528000	0.53228	ACC	GPRIN2	-	NULL		0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	A	NM_014696		46999178	1	no_errors	ENST00000374314	ensembl	human	known	70_37	missense	SNP	0.084	C	C	46999178	A	C	46999178	3	2	93	1	0	0	0	0	1	0	0	0	6750	159	6	5	300	5	GPRIN2	10	46999178	Missense_Mutation	SNP	A	TCGA-EK-A2GZ-01A-11D-A17W-09	46127467	46999178	88535569	42	13345										
SPON1	10418	genome.wustl.edu	37	chr11	14279441	14279441	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tgggccctggctgcagtgacGaaggtgaggagacaacccag	16	10	0	3			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr11:14279441G>A	ENST00000310358.7	+	0	2024							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTGCAGTGACGAAGGTGAGGA	0.632																																																	0													14	17	16					11																	14279441		2026	4160	6186			10418			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14279441G>A			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	16.15	3.043052	0.55003	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.45	4.53	0.55603	.	0.112865	0.64402	D	0.000013	T	0.24470	0.0593	.	.	.	0.47584	D	0.999469	P	0.52842	0.956	B	0.35655	0.207	T	0.29882	-0.9997	7	0.14252	T	0.57	.	13.3009	0.60324	0.0:0.0:0.8404:0.1596	.	497	Q9HCB6	SPON1_HUMAN	K	496	.	ENSP00000309297:E496K	E	+	1	0	SPON1	14236017	1.000000	0.71417	0.868000	0.34077	0.955000	0.61496	9.476000	0.97823	1.284000	0.44531	0.561000	0.74099	GAA	SPON1	-	-		0.632	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		G	NM_145584		14279441	1	no_errors	ENST00000310358	ensembl	human	known	70_37	rna	SNP	0.997	A	A	14279441	G	A	14279441	1	1	93	0	1	0	0	0	0	0	0	0	15112	1059	37	1		1	SPON1	11	14279441	RNA	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		14279441	120727075	43	13346										
NAV2	89797	genome.wustl.edu	37	chr11	20057524	20057524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gctgggacgacagcagctccGtcagcagcggcatcagcgac	14	14	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr11:20057524G>C	ENST00000396087.3	+	13	2956	c.2857G>C	c.(2857-2859)Gtc>Ctc	p.V953L	NAV2_ENST00000540292.1_Missense_Mutation_p.V884L|NAV2_ENST00000349880.4_Missense_Mutation_p.V930L|NAV2_ENST00000396085.1_Missense_Mutation_p.V930L|NAV2_ENST00000527559.2_Missense_Mutation_p.V882L|NAV2_ENST00000311043.8_Missense_Mutation_p.V16L|NAV2_ENST00000533917.1_Missense_Mutation_p.V16L|NAV2_ENST00000360655.4_Missense_Mutation_p.V866L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	953					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCAGCTCCGTCAGCAGCGG	0.552																																																	0													219	137	165					11																	20057524		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2857G>C	11.37:g.20057524G>C	ENSP00000379396:p.Val953Leu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.V953L	ENST00000396087.3	37	c.2857	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963461	0.74016	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.41758	1.06;1.16;1.17;1.15;1.05;1.05;2.77;1.46;0.99;2.77	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000022	T	0.63283	0.2498	L	0.59436	1.845	0.80722	D	1	P;P;D;D	0.76494	0.877;0.935;0.999;0.999	B;P;D;D	0.79784	0.415;0.691;0.967;0.993	T	0.57556	-0.7791	9	.	.	.	.	20.2265	0.98340	0.0:0.0:1.0:0.0	.	16;16;930;866	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	L	866;930;930;953;882;884;16;16;16;16;16	ENSP00000353871:V866L;ENSP00000379394:V930L;ENSP00000309577:V930L;ENSP00000379396:V953L;ENSP00000435395:V882L;ENSP00000443489:V884L;ENSP00000437316:V16L;ENSP00000437136:V16L;ENSP00000431276:V16L;ENSP00000312169:V16L	.	V	+	1	0	NAV2	20014100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.058000	0.89460	2.769000	0.95229	0.655000	0.94253	GTC	NAV2	-	NULL		0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	G	NM_145117		20057524	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20057524	G	C	20057524	3	2	93	1	0	0	0	0	1	0	0	0	10207	1145	40	2	2943	2	NAV2	11	20057524	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	5778083	20057524	114948992	44	13347										
ZBTB3	79842	genome.wustl.edu	37	chr11	62519844	62519844	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cgtagtgtgtaagagcatgaGaaggtcttcccacatgtctt	11	8	2	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr11:62519844G>A	ENST00000394807.3	-	2	1568	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	481					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.F481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGAGCATGAGAAGGTCTTCC	0.552																																																	1	Substitution - Missense(1)	prostate(1)											79	71	74					11																	62519844		2202	4299	6501	SO:0001819	synonymous_variant	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1443C>T	11.37:g.62519844G>A				Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F481	ENST00000394807.3	37	c.1443	CCDS8034.1	11																																																																																			ZBTB3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1	G	NM_024784		62519844	-1	no_errors	ENST00000394807	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62519844	G	A	62519844	2	1	93	1	0	0	0	0	0	0	0	1	17564	933	33	1		1	ZBTB3	11	62519844	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	42462320	62519844	72486672	45	13348										
ATG2A	23130	genome.wustl.edu	37	chr11	64666216	64666216	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	acctccagctcctgcacgatGaacacctgacgggacagcgg	11	15	0	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr11:64666216G>T	ENST00000377264.3	-	32	4675	c.4563C>A	c.(4561-4563)ttC>ttA	p.F1521L	ATG2A_ENST00000421419.2_Missense_Mutation_p.F1523L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1521					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCTGCACGATGAACACCTGAC	0.652																																																	0													64	56	59					11																	64666216		2201	4297	6498	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4563C>A	11.37:g.64666216G>T	ENSP00000366475:p.Phe1521Leu		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.F1523L	ENST00000377264.3	37	c.4569	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.52|12.52	1.962364|1.962364	0.34659|0.34659	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.05855|.	3.38;3.38|.	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	0.059731|.	0.64402|.	N|.	0.000003|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.11789|0.11789	0.175|0.175	0.41643|0.41643	D|D	0.989087|0.989087	B;B|.	0.10296|.	0.002;0.003|.	B;B|.	0.14578|.	0.005;0.011|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|5	0.07325|.	T|.	0.83|.	.|.	8.2274|8.2274	0.31577|0.31577	0.108:0.0:0.892:0.0|0.108:0.0:0.892:0.0	.|.	1521;1523|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	L|N	1523;1521|1325	ENSP00000410522:F1523L;ENSP00000366475:F1521L|.	ENSP00000366475:F1521L|.	F|H	-|-	3|1	2|0	ATG2A|ATG2A	64422792|64422792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.292000|2.292000	0.43549|0.43549	2.370000|2.370000	0.80446|0.80446	0.561000|0.561000	0.74099|0.74099	TTC|CAT	ATG2A	-	NULL		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	G	NM_015104		64666216	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64666216	G	T	64666216	3	4	93	1	0	0	0	0	1	0	0	0	1094	1281	45	3	1293	3	ATG2A	11	64666216	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	2146372	64666216	70340300	46	13349										
KLRB1	3820	genome.wustl.edu	37	chr12	9754172	9754172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aagtttcagggcaaattgatGccaaggtgaaccctgacaga	11	8	1	4			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr12:9754172G>T	ENST00000229402.3	-	2	155	c.109C>A	c.(109-111)Cat>Aat	p.H37N		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	37					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						GCAAATTGATGCCAAGGTGAA	0.398																																																	0													147	127	134					12																	9754172		2203	4300	6503	SO:0001583	missense	3820			U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"Killer cell lectin-like receptors", "CD molecules", "C-type lectin domain containing"	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.109C>A	12.37:g.9754172G>T	ENSP00000229402:p.His37Asn		Q24K24	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.H37N	ENST00000229402.3	37	c.109	CCDS8601.1	12	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403450	0.62288	.	.	ENSG00000111796	ENST00000229402	T	0.34275	1.37	3.15	3.15	0.36227	.	0.000000	0.39407	N	0.001376	T	0.52533	0.1740	M	0.61703	1.905	0.21762	N	0.999555	D	0.89917	1.0	D	0.83275	0.996	T	0.30357	-0.9981	10	0.52906	T	0.07	-17.0537	10.118	0.42603	0.0:0.0:1.0:0.0	.	37	Q12918	KLRB1_HUMAN	N	37	ENSP00000229402:H37N	ENSP00000229402:H37N	H	-	1	0	KLRB1	9645439	0.936000	0.31750	0.463000	0.27130	0.480000	0.33159	1.486000	0.35530	2.082000	0.62665	0.650000	0.86243	CAT	KLRB1	-	NULL		0.398	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRB1	HGNC	protein_coding	OTTHUMT00000400280.1	G	NM_002258		9754172	-1	no_errors	ENST00000229402	ensembl	human	known	70_37	missense	SNP	0.500	T	T	9754172	G	T	9754172	3	4	93	1	0	0	0	0	1	0	0	0	8434	1319	46	4	587	4	KLRB1	12	9754172	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		9754172	124097723	47	13350										
SETD8	387893	genome.wustl.edu	37	chr12	123879787	123879787	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	caagccctgaaaaagcccatCaagggcaaacaggccccccg	9	16	1	1	rs567542063		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr12:123879787C>A	ENST00000402868.3	+	4	909	c.483C>A	c.(481-483)atC>atA	p.I161I	SETD8_ENST00000330479.4_Silent_p.I161I|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	202					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAAAGCCCATCAAGGGCAAAC	0.517																																																	0													17	19	18					12																	123879787		2203	4299	6502	SO:0001819	synonymous_variant	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.483C>A	12.37:g.123879787C>A			A8K9D0|Q86W83|Q8TD09	Silent	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.I161	ENST00000402868.3	37	c.483	CCDS9247.1	12																																																																																			SETD8	-	pirsf_Hist_H4-K20_MeTrfase		0.517	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	C	NM_020382		123879787	1	no_errors	ENST00000330479	ensembl	human	known	70_37	silent	SNP	0.425	A	A	123879787	C	A	123879787	2	1	93	1	0	0	0	0	0	0	0	1	14167	816	29	3		3	SETD8	12	123879787	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	114125615	123879787	9972108	48	13351										
P2RX2	22953	genome.wustl.edu	37	chr12	133197642	133197642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tgacctggacctgcctgcatCggagtgcaaccccaagtact	10	14	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr12:133197642C>T	ENST00000389110.3	+	8	867	c.830C>T	c.(829-831)tCg>tTg	p.S277L	P2RX2_ENST00000343948.4_Missense_Mutation_p.S277L|P2RX2_ENST00000352418.4_Missense_Mutation_p.S205L|P2RX2_ENST00000348800.5_Missense_Mutation_p.S277L|P2RX2_ENST00000351222.4_Missense_Mutation_p.S185L|P2RX2_ENST00000449132.2_Missense_Mutation_p.S243L|P2RX2_ENST00000350048.5_Missense_Mutation_p.S253L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	277					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.S277W(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CTGCCTGCATCGGAGTGCAAC	0.597																																																	1	Substitution - Missense(1)	prostate(1)											128	103	111					12																	133197642		2203	4300	6503	SO:0001583	missense	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.830C>T	12.37:g.133197642C>T	ENSP00000373762:p.Ser277Leu		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.S277L	ENST00000389110.3	37	c.830	CCDS31931.1	12	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306024	0.23736	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59;3.59;3.59	4.96	4.07	0.47477	.	0.340826	0.28742	N	0.014281	T	0.07279	0.0184	M	0.67700	2.07	0.09310	N	0.999991	B;B;B;B;B;B;B;B	0.32324	0.2;0.122;0.364;0.194;0.351;0.243;0.2;0.078	B;B;B;B;B;B;B;B	0.27608	0.023;0.08;0.024;0.016;0.081;0.024;0.023;0.009	T	0.16041	-1.0416	10	0.87932	D	0	-7.8533	11.4205	0.49978	0.0:0.9156:0.0:0.0844	.	277;243;185;205;253;277;277;277	Q32MC3;Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;.;P2RX2_HUMAN;.	L	277;243;277;205;253;185;277	ENSP00000373762:S277L;ENSP00000405531:S243L;ENSP00000343339:S277L;ENSP00000341419:S205L;ENSP00000343904:S253L;ENSP00000344502:S185L;ENSP00000345095:S277L	ENSP00000343339:S277L	S	+	2	0	P2RX2	131707715	0.012000	0.17670	0.002000	0.10522	0.001000	0.01503	2.561000	0.45905	1.333000	0.45449	0.561000	0.74099	TCG	P2RX2	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.597	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	C			133197642	1	no_errors	ENST00000343948	ensembl	human	known	70_37	missense	SNP	0.037	T	T	133197642	C	T	133197642	3	4	93	1	0	0	0	0	1	0	0	0	11364	893	31	1	860	1	P2RX2	12	133197642	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	9317855	133197642	654253	49	13352										
PRKD1	5587	genome.wustl.edu	37	chr14	30100144	30100144	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	acatttgccgtagtgatttcGaaacaatgaggattggcccc	10	9	0	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398																																																	0													130	121	124					14																	30100144		2203	4300	6503	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1476C>T	14.37:g.30100144G>A			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F492	ENST00000331968.5	37	c.1476	CCDS9637.1	14																																																																																			PRKD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.398	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	G	NM_002742		30100144	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30100144	G	A	30100144	2	1	93	1	0	0	0	0	0	0	0	1	12545	1049	37	1		1	PRKD1	14	30100144	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		30100144	77249396	50	13353										
ITPK1	3705	genome.wustl.edu	37	chr14	93424612	93424612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ggtgtaggactcgccaaccaCgaacaccttgtacaggacgg	12	12	0	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr14:93424612C>T	ENST00000267615.6	-	8	777	c.604G>A	c.(604-606)Gtg>Atg	p.V202M	ITPK1_ENST00000555495.1_Missense_Mutation_p.V83M|ITPK1_ENST00000354313.3_Missense_Mutation_p.V202M|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.V202M			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	202	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCGCCAACCACGAACACCTTG	0.562																																																	0													174	143	154					14																	93424612		2203	4300	6503	SO:0001583	missense	3705			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.604G>A	14.37:g.93424612C>T	ENSP00000267615:p.Val202Met		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	pfam_Inositol_tetrakis-P_1-kinase	p.V202M	ENST00000267615.6	37	c.604	CCDS9907.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.245454	0.95272	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458;ENST00000554999;ENST00000556185	T	0.11930	2.73	5.22	5.22	0.72569	ATP-grasp fold (1);	0.126294	0.53938	D	0.000056	T	0.39963	0.1098	M	0.87269	2.87	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56865	0.808;0.653	T	0.49428	-0.8941	10	0.87932	D	0	-25.6396	18.8139	0.92070	0.0:1.0:0.0:0.0	.	202;202	Q13572;Q13572-2	ITPK1_HUMAN;.	M	202;232;202;83;202;202;160;220	ENSP00000346272:V202M	ENSP00000267615:V202M	V	-	1	0	ITPK1	92494365	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.665000	0.83852	2.432000	0.82394	0.655000	0.94253	GTG	ITPK1	-	pfam_Inositol_tetrakis-P_1-kinase		0.562	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	HGNC	protein_coding	OTTHUMT00000412421.2	C	NM_014216		93424612	-1	no_errors	ENST00000267615	ensembl	human	known	70_37	missense	SNP	1.000	T	T	93424612	C	T	93424612	3	4	93	1	0	0	0	0	1	0	0	0	7936	536	19	2	704	2	ITPK1	14	93424612	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	63324468	93424612	13924928	51	13354										
NDN	4692	genome.wustl.edu	37	chr15	23931920	23931920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	caggtgcagcccgaacacccGggcgaggatgaggctggtgc	17	12	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr15:23931920G>A	ENST00000331837.4	-	1	530	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	149	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCGAACACCCGGGCGAGGATG	0.602									Prader-Willi syndrome																																								0													42	44	43					15																	23931920		2203	4300	6503	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.445C>T	15.37:g.23931920G>A	ENSP00000332643:p.Arg149Trp		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R149W	ENST00000331837.4	37	c.445	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148960	0.57151	.	.	ENSG00000182636	ENST00000331837	T	0.04970	3.52	4.08	2.04	0.26737	.	0.214829	0.39274	N	0.001411	T	0.09905	0.0243	N	0.14661	0.345	0.18873	N	0.999984	D	0.89917	1.0	D	0.72075	0.976	T	0.10042	-1.0647	10	0.87932	D	0	.	9.2003	0.37254	0.0:0.0:0.5105:0.4895	.	149	Q99608	NECD_HUMAN	W	149	ENSP00000332643:R149W	ENSP00000332643:R149W	R	-	1	2	NDN	21483013	0.710000	0.27896	0.370000	0.25965	0.992000	0.81027	0.694000	0.25512	0.360000	0.24265	0.561000	0.74099	CGG	NDN	-	pfam_MAGE,pfscan_MAGE		0.602	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	G	NM_002487		23931920	-1	no_errors	ENST00000331837	ensembl	human	known	70_37	missense	SNP	0.274	A	A	23931920	G	A	23931920	3	1	93	1	0	0	0	0	1	0	0	0	10271	1115	39	2	524	2	NDN	15	23931920	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		23931920	78599472	52	13355										
C15orf41	84529	genome.wustl.edu	37	chr15	37001438	37001438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ctgtagatgaagatcagcttCgtgcaaagggttatgacaaa	11	6	1	4			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr15:37001438C>T	ENST00000566621.1	+	9	809	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	C15orf41_ENST00000338183.4_Missense_Mutation_p.R89C|C15orf41_ENST00000437989.2_Missense_Mutation_p.R187C|C15orf41_ENST00000562489.1_Missense_Mutation_p.R11C|C15orf41_ENST00000562877.1_Missense_Mutation_p.R89C|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000567389.1_Missense_Mutation_p.R89C|C15orf41_ENST00000569302.1_Missense_Mutation_p.R187C	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	187										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AGATCAGCTTCGTGCAAAGGG	0.299																																																	0													100	97	98					15																	37001438		1821	4075	5896	SO:0001583	missense	84529			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.559C>T	15.37:g.37001438C>T	ENSP00000455397:p.Arg187Cys		B2RD87	Missense_Mutation	SNP	NULL	p.R187C	ENST00000566621.1	37	c.559	CCDS45215.1	15	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389787	0.61956	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.68331	-0.32	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86203	0.1620	10	0.87932	D	0	-11.6817	20.0359	0.97557	0.0:1.0:0.0:0.0	.	187	Q9Y2V0	CO041_HUMAN	C	187;89	ENSP00000401362:R187C	ENSP00000342433:R89C	R	+	1	0	C15orf41	34788730	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.933000	0.70130	2.805000	0.96524	0.655000	0.94253	CGT	C15orf41	-	NULL		0.299	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf41	HGNC	protein_coding	OTTHUMT00000419741.1	C	NM_032499		37001438	1	no_errors	ENST00000437989	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37001438	C	T	37001438	3	4	93	1	0	0	0	0	1	0	0	0	1799	884	31	1	593	1	C15orf41	15	37001438	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	13069518	37001438	65529954	53	13356										
DAPK2	23604	genome.wustl.edu	37	chr15	64204322	64204322	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cacaccttccaccgcctgcgGacatactgcttcctgaagtt	7	16	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr15:64204322G>T	ENST00000457488.1	-	10	963	c.933C>A	c.(931-933)gtC>gtA	p.V311V	DAPK2_ENST00000261891.3_Silent_p.V311V	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	311	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACCGCCTGCGGACATACTGCT	0.617																																																	0													67	54	59					15																	64204322		2203	4300	6503	SO:0001819	synonymous_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.933C>A	15.37:g.64204322G>T			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V311	ENST00000457488.1	37	c.933	CCDS10188.1	15																																																																																			DAPK2	-	superfamily_Kinase-like_dom		0.617	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	G	NM_014326		64204322	-1	no_errors	ENST00000261891	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64204322	G	T	64204322	2	4	93	1	0	0	0	0	0	0	0	1	4241	1161	41	3		3	DAPK2	15	64204322	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	27202884	64204322	38327070	54	13357										
CYP11A1	1583	genome.wustl.edu	37	chr15	74637400	74637400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cttacactcaaaggcaaagcGgaacaggtcatcactgatgt	9	10	3	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr15:74637400G>T	ENST00000268053.6	-	3	764	c.610C>A	c.(610-612)Cgc>Agc	p.R204S	CYP11A1_ENST00000419019.2_Missense_Mutation_p.R46S|CYP11A1_ENST00000358632.4_Missense_Mutation_p.R46S|CYP11A1_ENST00000541301.1_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	204					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AAGGCAAAGCGGAACAGGTCA	0.567																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													89	83	85					15																	74637400		2197	4296	6493	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.610C>A	15.37:g.74637400G>T	ENSP00000268053:p.Arg204Ser		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R204S	ENST00000268053.6	37	c.610	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282905	0.80692	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.69175	-0.38;-0.38;-0.38	4.51	2.49	0.30216	.	0.238158	0.42682	D	0.000663	T	0.76765	0.4033	M	0.81112	2.525	0.80722	D	1	D;P;D	0.65815	0.995;0.941;0.995	D;P;P	0.63703	0.917;0.672;0.878	T	0.77797	-0.2453	10	0.62326	D	0.03	-16.8806	7.4551	0.27261	0.093:0.169:0.738:0.0	.	204;174;204	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	S	204;46;46;116	ENSP00000268053:R204S;ENSP00000351455:R46S;ENSP00000405488:R46S	ENSP00000268053:R204S	R	-	1	0	CYP11A1	72424453	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.899000	0.56288	2.048000	0.60808	0.643000	0.83706	CGC	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.567	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	G			74637400	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	missense	SNP	0.993	T	T	74637400	G	T	74637400	3	4	93	1	0	0	0	0	1	0	0	0	4149	1116	39	2	983	2	CYP11A1	15	74637400	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	10433078	74637400	27893992	55	13358										
C16orf91	283951	genome.wustl.edu	37	chr16	1470199	1470199	+	3'UTR	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gcaaacgtgacatcaaatccGaagggcggctgtcggctccc	12	13	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr16:1470199G>T	ENST00000442039.2	-	0	523				C16orf91_ENST00000310355.1_Missense_Mutation_p.F272L|C16orf91_ENST00000563974.1_3'UTR	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CATCAAATCCGAAGGGCGGCT	0.607																																																	0													64	65	64					16																	1470199		2199	4300	6499	SO:0001624	3_prime_UTR_variant	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.*48C>A	16.37:g.1470199G>T			Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.F272L	ENST00000442039.2	37	c.816		16	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284623	0.40394	.	.	ENSG00000174109	ENST00000310355	.	.	.	3.47	-5.12	0.02893	.	4.672090	0.00496	N	0.000153	T	0.26412	0.0645	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17289	-1.0374	6	0.54805	T	0.06	-0.3734	2.1334	0.03755	0.1019:0.2306:0.2164:0.4512	.	.	.	.	L	272	.	ENSP00000311390:F272L	F	-	3	2	C16orf91	1410200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.940000	0.03929	-1.048000	0.03238	-1.045000	0.02358	TTC	C16orf91	-	NULL		0.607	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470199	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1470199	G	T	1470199	1	4	93	0	1	0	0	0	0	0	0	0	1848	1049	37	3		3	C16orf91	16	1470199	3'UTR	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		1470199	88884554	56	13359										
CIRH1A	84916	genome.wustl.edu	37	chr16	69184470	69184470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gtttcgtggtgggcacagccGagggaacagtcttccatttt	13	9	1	0	rs145040987		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr16:69184470G>A	ENST00000314423.7	+	7	946	c.769G>A	c.(769-771)Gag>Aag	p.E257K	CIRH1A_ENST00000563094.1_Missense_Mutation_p.E257K|CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.E257K			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	257					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGGCACAGCCGAGGGAACAGT	0.493											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(69;1156 1278 4951 8715 52012)												0								G	LYS/GLU	0,4396		0,0,2198	158	151	153		769	4.9	1	16	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	missense	CIRH1A	NM_032830.2	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	257/687	69184470	1,12995	2198	4300	6498	SO:0001583	missense	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.769G>A	16.37:g.69184470G>A	ENSP00000327179:p.Glu257Lys	1112	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E257K	ENST00000314423.7	37	c.769	CCDS10872.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420051	0.83559	0.0	1.16E-4	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.35605	1.3;1.3	5.86	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095501	0.64402	D	0.000001	T	0.39384	0.1076	M	0.64170	1.965	0.54753	D	0.999987	D;D;D	0.63880	0.993;0.975;0.981	B;B;B	0.42827	0.399;0.251;0.373	T	0.45673	-0.9245	10	0.87932	D	0	.	14.5019	0.67727	0.0708:0.0:0.9292:0.0	.	257;257;257	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	K	257	ENSP00000327179:E257K;ENSP00000339164:E257K	ENSP00000327179:E257K	E	+	1	0	CIRH1A	67741971	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.590000	0.67530	1.491000	0.48482	0.508000	0.49915	GAG	CIRH1A	-	superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.493	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	G	NM_032830		69184470	1	no_errors	ENST00000314423	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69184470	G	A	69184470	3	1	93	1	0	0	0	0	1	0	0	0	3439	1059	37	1	791	1	CIRH1A	16	69184470	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	67714271	69184470	21170283	57	13360										
BCAR1	9564	genome.wustl.edu	37	chr16	75263742	75263742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gtaaagaaggcgtccacggcGttggtcagtgtggtcaggtt	16	7	2	1	rs371417209		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr16:75263742G>A	ENST00000162330.5	-	7	2406	c.2280C>T	c.(2278-2280)aaC>aaT	p.N760N	RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Silent_p.N731N|BCAR1_ENST00000535626.2_Silent_p.N612N|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.N778N|BCAR1_ENST00000538440.2_Silent_p.N760N|BCAR1_ENST00000393422.2_Silent_p.N778N|BCAR1_ENST00000393420.6_Silent_p.N778N|BCAR1_ENST00000542031.2_Silent_p.N758N|BCAR1_ENST00000418647.3_Silent_p.N806N	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	760	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGTCCACGGCGTTGGTCAGTG	0.657																																																	0													82	75	77					16																	75263742		2198	4300	6498	SO:0001819	synonymous_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2280C>T	16.37:g.75263742G>A			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.N806	ENST00000162330.5	37	c.2418	CCDS10915.1	16																																																																																			BCAR1	-	pfam_CAS_DUF3513		0.657	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	G	NM_014567		75263742	-1	no_errors	ENST00000418647	ensembl	human	known	70_37	silent	SNP	0.997	A	A	75263742	G	A	75263742	2	1	93	1	0	0	0	0	0	0	0	1	1349	1136	40	2		2	BCAR1	16	75263742	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	6079272	75263742	15091011	58	13361										
WDR81	124997	genome.wustl.edu	37	chr17	1637014	1637014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cactcagggacctttgggagCgtcctggtggggaaccgcat	15	11	1	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:1637014C>T	ENST00000409644.1	+	7	4683	c.4683C>T	c.(4681-4683)agC>agT	p.S1561S	WDR81_ENST00000419248.1_Silent_p.S334S|WDR81_ENST00000309182.5_Silent_p.S510S|WDR81_ENST00000437219.2_Silent_p.S358S|WDR81_ENST00000545662.1_Silent_p.S192S|WDR81_ENST00000446363.1_Silent_p.S200S|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1561					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTTTGGGAGCGTCCTGGTGG	0.706																																																	0													30	30	30					17																	1637014		2203	4296	6499	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4683C>T	17.37:g.1637014C>T			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1561	ENST00000409644.1	37	c.4683	CCDS54062.1	17																																																																																			WDR81	-	NULL		0.706	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1637014	1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	0.944	T	T	1637014	C	T	1637014	2	4	93	1	0	0	0	0	0	0	0	1	17361	767	27	2		2	WDR81	17	1637014	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		1637014	79558196	59	13362										
MYH2	4620	genome.wustl.edu	37	chr17	10436605	10436605	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	aaacatattttttataccttCtctccaccatcctctggtac	2	13	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:10436605C>A	ENST00000245503.5	-	21	2822	c.2438G>T	c.(2437-2439)aGa>aTa	p.R813I	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R813I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	813	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTATACCTTCTCTCCACCAT	0.433																																																	0													84	85	85					17																	10436605		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2438G>T	17.37:g.10436605C>A	ENSP00000245503:p.Arg813Ile		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R813I	ENST00000245503.5	37	c.2438	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217223	0.58560	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.72835	-0.69;-0.69	5.26	5.26	0.73747	.	0.000000	0.42420	U	0.000716	D	0.84275	0.5436	H	0.95437	3.67	0.80722	D	1	B	0.22800	0.075	B	0.36567	0.228	D	0.85012	0.0906	10	0.87932	D	0	.	19.0759	0.93161	0.0:1.0:0.0:0.0	.	813	Q9UKX2	MYH2_HUMAN	I	813	ENSP00000245503:R813I;ENSP00000380367:R813I	ENSP00000245503:R813I	R	-	2	0	MYH2	10377330	0.980000	0.34600	0.998000	0.56505	0.053000	0.15095	5.880000	0.69698	2.739000	0.93911	0.655000	0.94253	AGA	MYH2	-	pfscan_IQ_motif_EF-hand-BS		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10436605	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10436605	C	A	10436605	3	1	93	1	0	0	0	0	1	0	0	0	10058	913	32	3	3467	3	MYH2	17	10436605	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	8799591	10436605	70758605	60	13363										
TBC1D26	353149	genome.wustl.edu	37	chr17	15640800	15640800	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gcctgggttgccttacagtgAgatggagctgccccacgtca	13	12	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:15640800A>T	ENST00000437605.2	+	5	411	c.161A>T	c.(160-162)gAg>gTg	p.E54V	ZNF286A_ENST00000593105.1_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.E54V|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	54							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CCTTACAGTGAGATGGAGCTG	0.642																																																	0													32	36	34					17																	15640800		1945	4103	6048	SO:0001583	missense	353149				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.161A>T	17.37:g.15640800A>T	ENSP00000410111:p.Glu54Val		A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E54V	ENST00000437605.2	37	c.161	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	a	13.23	2.175468	0.38413	.	.	ENSG00000214946	ENST00000437605	T	0.34472	1.36	0.888	0.888	0.19206	.	0.219997	0.37348	U	0.002129	T	0.50051	0.1593	M	0.77486	2.375	0.29432	N	0.859756	D;D	0.63046	0.992;0.991	D;P	0.65684	0.937;0.905	T	0.43196	-0.9406	10	0.59425	D	0.04	.	3.9962	0.09559	1.0:0.0:0.0:0.0	.	54;54	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	V	54	ENSP00000410111:E54V	ENSP00000410111:E54V	E	+	2	0	TBC1D26	15581525	1.000000	0.71417	0.043000	0.18650	0.098000	0.18820	3.072000	0.50049	0.632000	0.30432	0.338000	0.21704	GAG	TBC1D26	-	NULL		0.642	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding		A	NM_178571		15640800	1	no_errors	ENST00000437605	ensembl	human	known	70_37	missense	SNP	0.891	T	T	15640800	A	T	15640800	3	4	93	1	0	0	0	0	1	0	0	0	15646	304	11	5	171	5	TBC1D26	17	15640800	Missense_Mutation	SNP	A	TCGA-EK-A2GZ-01A-11D-A17W-09	5204195	15640800	65554410	61	13364										
RUNDC3A	10900	genome.wustl.edu	37	chr17	42390802	42390802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccagggccgggcatggatccGggtggcactgatggagaagc	18	10	0	2	rs563233289		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:42390802G>A	ENST00000426726.3	+	4	663	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R130Q|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R125Q	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	130	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCATGGATCCGGGTGGCACTG	0.597													G|||	1	0.000199681	0	0.0014	5008	,	,		18674	0		0	False		,,,				2504	0				Pancreas(82;1061 1416 11136 20771 23901)												0													65	69	68					17																	42390802		2035	4190	6225	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.389G>A	17.37:g.42390802G>A	ENSP00000410862:p.Arg130Gln		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.R130Q	ENST00000426726.3	37	c.389	CCDS45698.1	17	.	.	.	.	.	.	.	.	.	.	g	32	5.117967	0.94385	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.38240	1.15;1.15	4.56	4.56	0.56223	RUN (3);	0.000000	0.64402	D	0.000001	T	0.65512	0.2698	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.996	T	0.73877	-0.3844	10	0.87932	D	0	-20.1616	16.0991	0.81158	0.0:0.0:1.0:0.0	.	130;130;125;130	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	Q	130	ENSP00000410862:R130Q;ENSP00000225441:R130Q	ENSP00000225441:R130Q	R	+	2	0	RUNDC3A	39746328	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.236000	0.95360	2.098000	0.63641	0.462000	0.41574	CGG	RUNDC3A	-	pfam_Run,smart_Run,pfscan_Run		0.597	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC3A	HGNC	protein_coding	OTTHUMT00000403173.2	G	NM_006695		42390802	1	no_errors	ENST00000426726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42390802	G	A	42390802	3	1	93	1	0	0	0	0	1	0	0	0	13774	1116	39	2	403	2	RUNDC3A	17	42390802	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	26750002	42390802	38804408	62	13365										
PDK2	5164	genome.wustl.edu	37	chr17	48185735	48185735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gtccagcctcattctcccacCcatcaaggtcatggtggcct	8	16	4	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:48185735C>T	ENST00000503176.1	+	8	976	c.815C>T	c.(814-816)cCc>cTc	p.P272L	PDK2_ENST00000007708.3_Missense_Mutation_p.P208L	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	272	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						ATTCTCCCACCCATCAAGGTC	0.577									Autosomal Dominant Polycystic Kidney Disease																																								0													81	68	72					17																	48185735		2203	4300	6503	SO:0001583	missense	5164	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.815C>T	17.37:g.48185735C>T	ENSP00000420927:p.Pro272Leu		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.P272L	ENST00000503176.1	37	c.815	CCDS11559.1	17	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753253	0.89753	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.54071	0.59;0.59;0.59	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.131848	0.51477	D	0.000082	T	0.71576	0.3356	M	0.86651	2.83	0.80722	D	1	D	0.54047	0.964	P	0.55545	0.778	T	0.78861	-0.2037	10	0.72032	D	0.01	-14.0616	16.633	0.85039	0.0:1.0:0.0:0.0	.	272	Q15119	PDK2_HUMAN	L	208;272;208	ENSP00000007708:P208L;ENSP00000420927:P272L;ENSP00000425265:P208L	ENSP00000007708:P208L	P	+	2	0	PDK2	45540734	0.600000	0.26899	0.082000	0.20525	0.898000	0.52572	5.888000	0.69758	2.289000	0.77006	0.555000	0.69702	CCC	PDK2	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.577	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK2	HGNC	protein_coding	OTTHUMT00000366492.2	C	NM_002611		48185735	1	no_errors	ENST00000503176	ensembl	human	known	70_37	missense	SNP	0.990	T	T	48185735	C	T	48185735	3	4	93	1	0	0	0	0	1	0	0	0	11700	623	22	4	845	4	PDK2	17	48185735	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	5794933	48185735	33009475	63	13366										
NOL11	25926	genome.wustl.edu	37	chr17	65734032	65734032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ttgttacaactctgtctacaGcagttccctgacattcctga	6	12	2	2	rs201705930		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:65734032G>T	ENST00000253247.4	+	13	1588	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	NOL11_ENST00000535137.1_Missense_Mutation_p.Q309H|SNORA38B_ENST00000363524.1_RNA	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	491					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTCTACAGCAGTTCCCTG	0.358																																																	0													97	101	99					17																	65734032		2203	4300	6503	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1473G>T	17.37:g.65734032G>T	ENSP00000253247:p.Gln491His		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	pfam_NUC205	p.Q491H	ENST00000253247.4	37	c.1473	CCDS11671.1	17	.	.	.	.	.	.	.	.	.	.	G	7.216	0.596353	0.13875	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.49720	0.77	5.11	-0.67	0.11384	.	0.118609	0.64402	N	0.000017	T	0.32912	0.0845	L	0.49513	1.565	0.44668	D	0.997654	B	0.17852	0.024	B	0.15052	0.012	T	0.04229	-1.0967	10	0.34782	T	0.22	-4.5918	3.651	0.08203	0.2705:0.1045:0.5184:0.1067	.	491	Q9H8H0	NOL11_HUMAN	H	491;309	ENSP00000253247:Q491H	ENSP00000253247:Q491H	Q	+	3	2	NOL11	63164494	1.000000	0.71417	0.932000	0.37286	0.258000	0.26162	0.674000	0.25218	-0.519000	0.06444	-0.813000	0.03139	CAG	NOL11	-	NULL		0.358	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	G	NM_015462		65734032	1	no_errors	ENST00000253247	ensembl	human	known	70_37	missense	SNP	0.991	T	T	65734032	G	T	65734032	3	4	93	1	0	0	0	0	1	0	0	0	10545	962	34	4	1523	4	NOL11	17	65734032	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	17548297	65734032	15461178	64	13367										
TBCD	6904	genome.wustl.edu	37	chr17	80724217	80724217	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gagcctgttttagatttggtCacaattcagaatcccaagga	9	8	2	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr17:80724217C>T	ENST00000355528.4	+	4	538	c.408C>T	c.(406-408)gtC>gtT	p.V136V	TBCD_ENST00000539345.2_Silent_p.V136V|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	136					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TAGATTTGGTCACAATTCAGA	0.483																																																	0													143	142	142					17																	80724217		1987	4148	6135	SO:0001819	synonymous_variant	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.408C>T	17.37:g.80724217C>T			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.V136	ENST00000355528.4	37	c.408	CCDS45818.1	17																																																																																			TBCD	-	superfamily_ARM-type_fold		0.483	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	C	NM_005993		80724217	1	no_errors	ENST00000355528	ensembl	human	known	70_37	silent	SNP	0.014	T	T	80724217	C	T	80724217	2	4	93	1	0	0	0	0	0	0	0	1	15663	813	29	1		1	TBCD	17	80724217	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	14990185	80724217	470993	65	13368										
SMCHD1	23347	genome.wustl.edu	37	chr18	2707601	2707601	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	taacttggcctgaaggagatGaattattgcctaatgaggtt	11	5	0	4			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr18:2707601G>A	ENST00000320876.6	+	16	2442	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E702K|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	702					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGAAGGAGATGAATTATTGCC	0.343																																																	0													185	173	176					18																	2707601		1818	4078	5896	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2104G>A	18.37:g.2707601G>A	ENSP00000326603:p.Glu702Lys		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.E702K	ENST00000320876.6	37	c.2104	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746202	0.49257	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25579	1.79;1.8	5.46	5.46	0.80206	.	0.317848	0.29073	N	0.013233	T	0.16642	0.0400	N	0.19112	0.55	0.34750	D	0.731719	P	0.49090	0.919	B	0.37015	0.239	T	0.23261	-1.0193	10	0.66056	D	0.02	-18.2757	14.1759	0.65542	0.0:0.0:0.8502:0.1497	.	702	A6NHR9	SMHD1_HUMAN	K	702	ENSP00000326603:E702K;ENSP00000261598:E702K	ENSP00000261598:E702K	E	+	1	0	SMCHD1	2697601	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.927000	0.63440	2.543000	0.85770	0.563000	0.77884	GAA	SMCHD1	-	NULL		0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	G			2707601	1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2707601	G	A	2707601	3	1	93	1	0	0	0	0	1	0	0	0	14818	1291	45	1	2166	1	SMCHD1	18	2707601	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		2707601	75369647	66	13369										
HRH4	59340	genome.wustl.edu	37	chr18	22040735	22040735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tcaatttatcactaagcactCgtgttactttagcatttttt	4	8	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr18:22040735C>T	ENST00000256906.4	+	1	143	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	HRH4_ENST00000426880.2_Missense_Mutation_p.R15C	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	15					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	ACTAAGCACTCGTGTTACTTT	0.348																																																	0													214	180	192					18																	22040735		2202	4299	6501	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.43C>T	18.37:g.22040735C>T	ENSP00000256906:p.Arg15Cys		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R15C	ENST00000256906.4	37	c.43	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413806	0.25465	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.39406	1.08;1.08	5.64	-7.93	0.01156	.	3.664910	0.00575	N	0.000309	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B;B;B	0.16802	0.019;0.001;0.002	B;B;B	0.06405	0.002;0.0;0.001	T	0.12785	-1.0534	10	0.56958	D	0.05	21.8006	1.7589	0.02988	0.4868:0.1331:0.171:0.2091	.	15;15;15	B2KJ49;B2KJ48;Q9H3N8	.;.;HRH4_HUMAN	C	15	ENSP00000256906:R15C;ENSP00000402526:R15C	ENSP00000256906:R15C	R	+	1	0	HRH4	20294733	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.609000	0.05635	-1.097000	0.03042	-0.911000	0.02809	CGT	HRH4	-	NULL		0.348	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	C			22040735	1	no_errors	ENST00000256906	ensembl	human	known	70_37	missense	SNP	0.000	T	T	22040735	C	T	22040735	3	4	93	1	0	0	0	0	1	0	0	0	7378	884	31	1	45	1	HRH4	18	22040735	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	19333134	22040735	56036513	67	13370										
RAB11B	9230	genome.wustl.edu	37	chr19	8464928	8464928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gctggccaggagcgctaccgCgccatcacctccgcgtgcgt	13	17	1	0	rs564081021		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:8464928C>T	ENST00000328024.6	+	2	440	c.222C>T	c.(220-222)cgC>cgT	p.R74R	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.R74R	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	74					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						AGCGCTACCGCGCCATCACCT	0.667													C|||	1	0.000199681	0	0	5008	,	,		17461	0		0	False		,,,				2504	0.001																0													61	56	58					19																	8464928		2203	4299	6502	SO:0001819	synonymous_variant	9230			X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.222C>T	19.37:g.8464928C>T			A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R74	ENST00000328024.6	37	c.222	CCDS12201.1	19																																																																																			RAB11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.667	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11B	HGNC	protein_coding	OTTHUMT00000460343.2	C	NM_004218		8464928	1	no_errors	ENST00000328024	ensembl	human	known	70_37	silent	SNP	0.914	T	T	8464928	C	T	8464928	2	4	93	1	0	0	0	0	0	0	0	1	12922	755	27	2		2	RAB11B	19	8464928	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		8464928	50664055	68	13371										
OR7C1	26664	genome.wustl.edu	37	chr19	14910923	14910923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ccaggaggagaaattcttggGcatgtgtttgatttcctgtt	12	6	1	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:14910923G>T	ENST00000248073.2	-	1	100	c.26C>A	c.(25-27)gCc>gAc	p.A9D	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	9					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAATTCTTGGGCATGTGTTTG	0.428																																																	0													83	84	84					19																	14910923		2193	4266	6459	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.26C>A	19.37:g.14910923G>T	ENSP00000248073:p.Ala9Asp		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A9D	ENST00000248073.2	37	c.26	CCDS12317.1	19	.	.	.	.	.	.	.	.	.	.	g	9.075	0.997751	0.19043	.	.	ENSG00000127530	ENST00000248073	T	0.00510	6.9	3.76	-1.67	0.08238	.	1.397630	0.05763	U	0.605218	T	0.00412	0.0013	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42565	-0.9444	10	0.59425	D	0.04	.	8.7527	0.34626	0.5867:0.0:0.4133:0.0	.	9	O76099	OR7C1_HUMAN	D	9	ENSP00000248073:A9D	ENSP00000248073:A9D	A	-	2	0	OR7C1	14771923	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.068000	0.11561	-0.588000	0.05882	-0.320000	0.08662	GCC	OR7C1	-	NULL		0.428	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	HGNC	protein_coding	OTTHUMT00000466519.1	G			14910923	-1	no_errors	ENST00000248073	ensembl	human	known	70_37	missense	SNP	0.001	T	T	14910923	G	T	14910923	3	4	93	1	0	0	0	0	1	0	0	0	11241	1203	42	4	938	4	OR7C1	19	14910923	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	6445995	14910923	44218060	69	13372										
NWD1	284434	genome.wustl.edu	37	chr19	16918399	16918399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	atttttcttccctggcaggcGaggaacaagattccctggac	10	11	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:16918399G>A	ENST00000552788.1	+	16	3739	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	NWD1_ENST00000339803.6_Missense_Mutation_p.E1112K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1205K|NWD1_ENST00000523826.1_Missense_Mutation_p.E1041K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1247K|NWD1_ENST00000524140.2_Missense_Mutation_p.E1247K			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1247							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTGGCAGGCGAGGAACAAGA	0.502																																																	0													106	115	112					19																	16918399		2203	4300	6503	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3739G>A	19.37:g.16918399G>A	ENSP00000447224:p.Glu1247Lys		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1247K	ENST00000552788.1	37	c.3739		19	.	.	.	.	.	.	.	.	.	.	G	1.020	-0.685015	0.03328	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.63913	-0.07;1.25;-0.07;2.31;1.62;2.31	5.27	1.84	0.25277	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.284940	0.05163	N	0.498143	T	0.46600	0.1401	L	0.35723	1.085	0.09310	N	1	B;B;B	0.17465	0.007;0.022;0.007	B;B;B	0.12837	0.002;0.008;0.003	T	0.24977	-1.0145	10	0.05620	T	0.96	-19.6428	5.5192	0.16923	0.1814:0.163:0.6556:0.0	.	1247;1247;1112	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	K	1112;1247;1205;1247;1041;1247;1112	ENSP00000428579:E1247K;ENSP00000447548:E1205K;ENSP00000369136:E1247K;ENSP00000428955:E1041K;ENSP00000447224:E1247K;ENSP00000340159:E1112K	ENSP00000340159:E1112K	E	+	1	0	NWD1	16779399	0.896000	0.30565	0.760000	0.31359	0.003000	0.03518	1.143000	0.31553	0.195000	0.20347	-0.122000	0.15005	GAG	NWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.502	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	G	NM_001007525		16918399	1	no_errors	ENST00000379808	ensembl	human	known	70_37	missense	SNP	0.038	A	A	16918399	G	A	16918399	3	1	93	1	0	0	0	0	1	0	0	0	10805	1059	37	1	3388	1	NWD1	19	16918399	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	2007476	16918399	42210584	70	13373										
ZNF536	9745	genome.wustl.edu	37	chr19	30934829	30934829	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	atgtcccagatgagcgacatCgaggacgacgcccgcaagaa	12	12	0	3			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:30934829C>T	ENST00000355537.3	+	2	507	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	120					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGCGACATCGAGGACGACG	0.637																																																	0													64	51	55					19																	30934829		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.360C>T	19.37:g.30934829C>T			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I120	ENST00000355537.3	37	c.360	CCDS32984.1	19																																																																																			ZNF536	-	NULL		0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30934829	1	no_errors	ENST00000355537	ensembl	human	known	70_37	silent	SNP	0.941	T	T	30934829	C	T	30934829	2	4	93	1	0	0	0	0	0	0	0	1	18004	874	31	1		1	ZNF536	19	30934829	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	14016430	30934829	28194154	71	13374										
GRIK5	2901	genome.wustl.edu	37	chr19	42507726	42507726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cctttagctcgatggtcctcCtccttggggcaccggccccc	10	18	0	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:42507726C>T	ENST00000262895.3	-	17	2372	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	GRIK5_ENST00000301218.4_Silent_p.E791E|GRIK5_ENST00000593562.1_Silent_p.E791E	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	791					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GATGGTCCTCCTCCTTGGGGC	0.637																																																	0													81	67	72					19																	42507726		2203	4300	6503	SO:0001819	synonymous_variant	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2373G>A	19.37:g.42507726C>T			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E791	ENST00000262895.3	37	c.2373	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	C	8.182	0.794011	0.16327	.	.	ENSG00000105737	ENST00000454993	.	.	.	4.44	2.23	0.28157	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49969	-0.8882	4	.	.	.	.	8.043	0.30532	0.0:0.7785:0.0:0.2215	.	.	.	.	R	168	.	.	G	-	1	0	GRIK5	47199566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.914000	0.28624	0.770000	0.33336	0.555000	0.69702	GGA	GRIK5	-	pfam_Iontro_glu_rcpt		0.637	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	C			42507726	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42507726	C	T	42507726	2	4	93	1	0	0	0	0	0	0	0	1	6797	680	24	4		4	GRIK5	19	42507726	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	11572897	42507726	16621257	72	13375										
ERF	2077	genome.wustl.edu	37	chr19	42752618	42752618	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ggtcccctgcccacagccctCaggagtctcggtgctccagg	12	17	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:42752618C>T	ENST00000222329.4	-	4	1803	c.1646G>A	c.(1645-1647)tGa>tAa	p.*549*	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.*474*	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	0					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCACAGCCCTCAGGAGTCTCG	0.682																																																	0													20	24	23					19																	42752618		2190	4289	6479	SO:0001819	synonymous_variant	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1646G>A	19.37:g.42752618C>T			B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.*549	ENST00000222329.4	37	c.1646	CCDS12600.1	19																																																																																			ERF	-	NULL		0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42752618	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42752618	C	T	42752618	2	4	93	1	0	0	0	0	0	0	0	1	5233	837	29	1		1	ERF	19	42752618	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	244892	42752618	16376365	73	13376										
ZIM2	23619	genome.wustl.edu	37	chr19	57293339	57293339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	acccagggagaccaggttccGgtaattctccagcatcacct	9	14	2	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr19:57293339G>A	ENST00000391708.3	-	10	1170	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	ZIM2_ENST00000593711.1_Missense_Mutation_p.R210W|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R210W|ZIM2_ENST00000599935.1_Missense_Mutation_p.R210W|ZIM2_ENST00000601070.1_Missense_Mutation_p.R210W	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	210	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACCAGGTTCCGGTAATTCTCC	0.517																																																	0													123	118	119					19																	57293339		2203	4300	6503	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.628C>T	19.37:g.57293339G>A	ENSP00000375589:p.Arg210Trp		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R210W	ENST00000391708.3	37	c.628	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347286	0.41599	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.02140	4.43;4.43	5.21	-1.22	0.09494	Krueppel-associated box (4);	.	.	.	.	T	0.02807	0.0084	M	0.62209	1.925	.	.	.	B	0.30236	0.274	B	0.26094	0.066	T	0.21965	-1.0230	8	0.54805	T	0.06	.	5.9697	0.19344	0.1849:0.0:0.4333:0.3818	.	210	Q9NZV7	ZIM2_HUMAN	W	210	ENSP00000375589:R210W;ENSP00000221722:R210W	ENSP00000221722:R210W	R	-	1	2	ZIM2	61985151	0.000000	0.05858	0.083000	0.20561	0.668000	0.39293	-1.081000	0.03403	-0.175000	0.10725	-0.126000	0.14955	CGG	ZIM2	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.517	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	G			57293339	-1	no_errors	ENST00000221722	ensembl	human	known	70_37	missense	SNP	0.209	A	A	57293339	G	A	57293339	3	1	93	1	0	0	0	0	1	0	0	0	17714	1115	39	2	967	2	ZIM2	19	57293339	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	14540721	57293339	1835644	74	13377										
EEF1A2	1917	genome.wustl.edu	37	chr20	62121919	62121919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cggatgtccttcaccgacacGttcttcacattgaagccgac	8	14	3	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr20:62121919G>A	ENST00000298049.7	-	5	1012	c.942C>T	c.(940-942)aaC>aaT	p.N314N	EEF1A2_ENST00000217182.3_Silent_p.N314N			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	314					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCACCGACACGTTCTTCACAT	0.627																																																	0													118	107	111					20																	62121919		2200	4295	6495	SO:0001819	synonymous_variant	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.942C>T	20.37:g.62121919G>A			B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.N314	ENST00000298049.7	37	c.942	CCDS13522.1	20																																																																																			EEF1A2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc		0.627	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	G	NM_001958		62121919	-1	no_errors	ENST00000217182	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62121919	G	A	62121919	2	1	93	1	0	0	0	0	0	0	0	1	4934	1136	40	2		2	EEF1A2	20	62121919	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09		62121919	903601	75	13378										
THAP7	80764	genome.wustl.edu	37	chr22	21354527	21354527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ctggtgaaggctgggcgctgCagcctgcttcatctgcctgg	15	12	2	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr22:21354527C>T	ENST00000215742.4	-	4	746	c.572G>A	c.(571-573)tGc>tAc	p.C191Y	THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.C191Y	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	191					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGGGCGCTGCAGCCTGCTTC	0.687																																																	0													6	7	7					22																	21354527		2134	4198	6332	SO:0001583	missense	80764			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.572G>A	22.37:g.21354527C>T	ENSP00000215742:p.Cys191Tyr		B2RD97|D3DX40	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.C191Y	ENST00000215742.4	37	c.572	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557243	0.45590	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.95980	-3.87;-3.87	4.42	3.39	0.38822	.	0.704218	0.13370	N	0.393018	D	0.87164	0.6109	N	0.08118	0	0.34674	D	0.723984	B	0.02656	0.0	B	0.01281	0.0	T	0.82977	-0.0189	10	0.18710	T	0.47	-10.0312	8.3025	0.32023	0.0:0.8901:0.0:0.1099	.	191	Q9BT49	THAP7_HUMAN	Y	191	ENSP00000215742:C191Y;ENSP00000382084:C191Y	ENSP00000215742:C191Y	C	-	2	0	THAP7	19684527	0.995000	0.38212	0.995000	0.50966	0.976000	0.68499	1.877000	0.39598	1.169000	0.42739	0.655000	0.94253	TGC	THAP7	-	NULL		0.687	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	C	NM_030573		21354527	-1	no_errors	ENST00000215742	ensembl	human	known	70_37	missense	SNP	0.991	T	T	21354527	C	T	21354527	3	4	93	1	0	0	0	0	1	0	0	0	15879	710	25	4	361	4	THAP7	22	21354527	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		21354527	29950039	76	13379										
ZNF70	7621	genome.wustl.edu	37	chr22	24086430	24086430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tttcttcccagtgtggatccGctggtgtcggatgaggtgtg	15	8	1	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr22:24086430G>A	ENST00000341976.3	-	2	1358	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTGTGGATCCGCTGGTGTCGG	0.552																																																	0													101	90	94					22																	24086430		2203	4300	6503	SO:0001583	missense	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.898C>T	22.37:g.24086430G>A	ENSP00000339314:p.Arg300Trp			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R300W	ENST00000341976.3	37	c.898	CCDS13812.1	22	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012903	0.54468	.	.	ENSG00000187792	ENST00000341976	T	0.02498	4.27	3.34	-1.55	0.08558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05227	0.0139	M	0.90019	3.08	0.25594	N	0.986666	P	0.47484	0.896	B	0.35182	0.197	T	0.17228	-1.0376	9	0.87932	D	0	-24.3398	7.0643	0.25143	0.1283:0.0:0.5328:0.3388	.	300	Q9UC06	ZNF70_HUMAN	W	300	ENSP00000339314:R300W	ENSP00000339314:R300W	R	-	1	2	ZNF70	22416430	0.000000	0.05858	0.965000	0.40720	0.892000	0.51952	-1.768000	0.01794	-0.329000	0.08527	0.456000	0.33151	CGG	ZNF70	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	G	NM_021916		24086430	-1	no_errors	ENST00000341976	ensembl	human	known	70_37	missense	SNP	0.930	A	A	24086430	G	A	24086430	3	1	93	1	0	0	0	0	1	0	0	0	18133	1086	38	2	446	2	ZNF70	22	24086430	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	2731903	24086430	27218136	77	13380										
CERK	64781	genome.wustl.edu	37	chr22	47103759	47103759	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	cctgcgggaatgattccaatCcggaggctactggggaccag	14	11	0	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr22:47103759C>G	ENST00000216264.8	-	6	808	c.696G>C	c.(694-696)cgG>cgC	p.R232R	CERK_ENST00000541677.1_Silent_p.R34R	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGATTCCAATCCGGAGGCTAC	0.607																																																	0													90	98	96					22																	47103759		2203	4300	6503	SO:0001819	synonymous_variant	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.696G>C	22.37:g.47103759C>G			A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.R232	ENST00000216264.8	37	c.696	CCDS14077.1	22																																																																																			CERK	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.607	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	C	NM_022766		47103759	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	silent	SNP	0.532	G	G	47103759	C	G	47103759	2	3	93	1	0	0	0	0	0	0	0	1	3272	842	30	1		1	CERK	22	47103759	Silent	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09	23017329	47103759	4200807	78	13381										
CPT1B	1375	genome.wustl.edu	37	chr22	51015042	51015042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	gctgtagagcatagggtgccGgctggatagaaggcggatac	17	7	0	2			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chr22:51015042G>A	ENST00000360719.2	-	5	621	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	CHKB-CPT1B_ENST00000453634.1_Intron|CPT1B_ENST00000440709.1_Missense_Mutation_p.R162W|CPT1B_ENST00000457250.1_Intron|CPT1B_ENST00000405237.3_Missense_Mutation_p.R162W|CPT1B_ENST00000312108.7_Missense_Mutation_p.R162W|CPT1B_ENST00000395650.2_Missense_Mutation_p.R162W|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000434492.2_Intron	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	162					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATAGGGTGCCGGCTGGATAGA	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)												0													41	39	39					22																	51015042		2202	4296	6498	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.484C>T	22.37:g.51015042G>A	ENSP00000353945:p.Arg162Trp	974	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R162W	ENST00000360719.2	37	c.484	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697082	0.30142	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000440709;ENST00000395650	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	4.82	3.78	0.43462	.	0.169528	0.53938	D	0.000057	D	0.88625	0.6487	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.70227	0.968;0.955	D	0.88028	0.2773	10	0.37606	T	0.19	-10.786	12.6163	0.56578	0.0:0.1899:0.8101:0.0	.	162;162	E9PCP2;Q92523	.;CPT1B_HUMAN	W	162	ENSP00000385486:R162W;ENSP00000312189:R162W;ENSP00000353945:R162W;ENSP00000414713:R162W;ENSP00000379011:R162W	ENSP00000312189:R162W	R	-	1	2	CPT1B	49361908	1.000000	0.71417	0.821000	0.32701	0.153000	0.21895	6.067000	0.71193	1.223000	0.43536	0.491000	0.48974	CGG	CPT1B	-	NULL		0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	G	NM_152246		51015042	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	missense	SNP	0.998	A	A	51015042	G	A	51015042	3	1	93	1	0	0	0	0	1	0	0	0	3837	1115	39	2	1894	2	CPT1B	22	51015042	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	3911283	51015042	289524	79	13382										
DHRSX	207063	genome.wustl.edu	37	chrX	2161183	2161183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ggcggtcacgtggcttccctCagccgccagcagccgctgga	14	16	2	0			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chrX:2161183C>T	ENST00000334651.5	-	6	737	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	229							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGCTTCCCTCAGCCGCCAGC	0.647																																																	0													82	78	80					X																	2161183		2203	4296	6499	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.685G>A	X.37:g.2161183C>T	ENSP00000334113:p.Glu229Lys		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.E229K	ENST00000334651.5	37	c.685	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	C	4.665	0.123614	0.08931	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.82433	-1.61;-1.61	1.45	-2.91	0.05631	NAD(P)-binding domain (1);	1.176110	0.06377	U	0.714519	T	0.68924	0.3054	N	0.25992	0.78	0.09310	N	1	B	0.24675	0.109	B	0.20767	0.031	T	0.51060	-0.8753	10	0.33940	T	0.23	.	5.3835	0.16204	0.0:0.645:0.2035:0.1514	.	229	Q8N5I4	DHRSX_HUMAN	K	229;206	ENSP00000334113:E229K;ENSP00000391778:E206K	ENSP00000334113:E229K	E	-	1	0	DHRSX	2171183	0.000000	0.05858	0.720000	0.30636	0.348000	0.29142	-0.020000	0.12525	-0.898000	0.03906	0.054000	0.15206	GAG	DHRSX	-	NULL		0.647	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	C	NM_145177		2161183	-1	no_errors	ENST00000334651	ensembl	human	known	70_37	missense	SNP	0.811	T	T	2161183	C	T	2161183	3	4	93	1	0	0	0	0	1	0	0	0	4509	835	29	1	315	1	DHRSX	23	2161183	Missense_Mutation	SNP	C	TCGA-EK-A2GZ-01A-11D-A17W-09		2161183	153109377	80	13383										
NLGN3	54413	genome.wustl.edu	37	chrX	70389651	70389651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	ctagccctcagcggggagccGgggccccggagttgggagct	18	13	1	0	rs17857400		TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chrX:70389651G>A	ENST00000358741.3	+	8	2554	c.2251G>A	c.(2251-2253)Ggg>Agg	p.G751R	NLGN3_ENST00000374051.3_Missense_Mutation_p.G731R|NLGN3_ENST00000536169.1_Missense_Mutation_p.G711R|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	751			G -> W (in dbSNP:rs17857400). {ECO:0000269|PubMed:15489334}.		adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCGGGGAGCCGGGGCCCCGGA	0.667													G|||	1	0.000264901	0	0	3775	,	,		10430	0		0	False		,,,				2504	0.001				Esophageal Squamous(103;760 1488 16849 22250 40351)												0													18	18	18					X																	70389651		2197	4294	6491	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2251G>A	X.37:g.70389651G>A	ENSP00000351591:p.Gly751Arg		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G751R	ENST00000358741.3	37	c.2251	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	G	5.176	0.217985	0.09810	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.64991	-0.12;-0.12;-0.13	5.06	5.06	0.68205	.	0.130763	0.52532	D	0.000079	T	0.41442	0.1159	N	0.08118	0	0.33201	D	0.552188	B;B;B	0.33964	0.097;0.308;0.434	B;B;B	0.32533	0.03;0.07;0.147	T	0.51100	-0.8748	10	0.16896	T	0.51	.	16.3153	0.82918	0.0:0.0:1.0:0.0	.	711;751;731	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	R	711;731;751	ENSP00000445298:G711R;ENSP00000363163:G731R;ENSP00000351591:G751R	ENSP00000351591:G751R	G	+	1	0	NLGN3	70306376	1.000000	0.71417	0.888000	0.34837	0.522000	0.34438	4.343000	0.59348	2.372000	0.80975	0.431000	0.28591	GGG	NLGN3	-	NULL		0.667	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	G	NM_018977		70389651	1	no_errors	ENST00000358741	ensembl	human	known	70_37	missense	SNP	0.728	A	A	70389651	G	A	70389651	3	1	93	1	0	0	0	0	1	0	0	0	10487	1116	39	2	2277	2	NLGN3	23	70389651	Missense_Mutation	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	68228468	70389651	84880909	81	13384										
CHM	1121	genome.wustl.edu	37	chrX	85218961	85218961	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.158536585365854	13	0.0271616916449753	1.88633372048006	2.28536585365854	1.85928069450186	0.000231848884941694	0.00204448562175857	6	tcatcctccgtaggcaggaaGgcagaatctgcagcttctgt	11	11	3	1			TCGA-EK-A2GZ-01A-11D-A17W-09	TCGA-EK-A2GZ-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	011036d5-7495-4d6f-9294-edd6cf42d72a	0c7a6420-3ad0-4790-9c3b-2139d4edcc0a	g.chrX:85218961G>T	ENST00000357749.2	-	5	440	c.411C>A	c.(409-411)gcC>gcA	p.A137A	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	137					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TAGGCAGGAAGGCAGAATCTG	0.458																																																	0													86	75	78					X																	85218961		2203	4300	6503	SO:0001819	synonymous_variant	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.411C>A	X.37:g.85218961G>T			A1L4D2|O43732	Silent	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.A137	ENST00000357749.2	37	c.411	CCDS14454.1	X																																																																																			CHM	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort		0.458	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	G	NM_000390		85218961	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	silent	SNP	0.000	T	T	85218961	G	T	85218961	2	4	93	1	0	0	0	0	0	0	0	1	3355	987	35	4		4	CHM	23	85218961	Silent	SNP	G	TCGA-EK-A2GZ-01A-11D-A17W-09	14829310	85218961	70051599	82	13385										
PRAMEF2	65122	genome.wustl.edu	37	chr1	12918971	12918971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggagctgcccagggtgctctAtctcccactcttcagggagg	13	13	4	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:12918971A>G	ENST00000240189.2	+	2	194	c.107A>G	c.(106-108)tAt>tGt	p.Y36C		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	36					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTGCTCTATCTCCCACTC	0.622																																																	0													105	113	111					1																	12918971		2201	4296	6497	SO:0001583	missense	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.107A>G	1.37:g.12918971A>G	ENSP00000240189:p.Tyr36Cys			Missense_Mutation	SNP	NULL	p.Y36C	ENST00000240189.2	37	c.107	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	A	6.544	0.468667	0.12461	.	.	ENSG00000120952	ENST00000240189	T	0.04970	3.52	0.842	-1.68	0.08212	.	0.229124	0.38111	N	0.001819	T	0.08802	0.0218	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.64595	0.927	T	0.29027	-1.0025	10	0.87932	D	0	.	4.4558	0.11642	0.2895:0.0:0.0:0.7105	.	36	O60811	PRAM2_HUMAN	C	36	ENSP00000240189:Y36C	ENSP00000240189:Y36C	Y	+	2	0	PRAMEF2	12841558	0.016000	0.18221	0.000000	0.03702	0.000000	0.00434	-0.807000	0.04520	-1.480000	0.01865	-1.254000	0.01491	TAT	PRAMEF2	-	NULL		0.622	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	A	NM_023014		12918971	1	no_errors	ENST00000240189	ensembl	human	known	70_37	missense	SNP	0.000	G	G	12918971	A	G	12918971	3	3	94	1	0	0	0	0	1	0	0	0	12462	449	16	5	109	5	PRAMEF2	1	12918971	Missense_Mutation	SNP	A	TCGA-EK-A2H0-01A-11D-A17W-09		12918971	236331650	1	13386										
PRDM2	7799	genome.wustl.edu	37	chr1	14105740	14105740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gggaagttaaagaacttcatCcgtgcaaatattgtaaaaag	9	5	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:14105740C>T	ENST00000235372.7	+	8	2306	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	PRDM2_ENST00000343137.4_Missense_Mutation_p.P283S|PRDM2_ENST00000413440.1_Missense_Mutation_p.P283S|PRDM2_ENST00000311066.5_Missense_Mutation_p.P484S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGAACTTCATCCGTGCAAATA	0.423																																																	0													44	41	42					1																	14105740		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1450C>T	1.37:g.14105740C>T	ENSP00000235372:p.Pro484Ser		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.P484S	ENST00000235372.7	37	c.1450	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108585	0.56291	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.994	T	0.81366	-0.0965	10	0.35671	T	0.21	.	17.925	0.88980	0.0:1.0:0.0:0.0	.	484;342;484;484	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	S	484;484;484;283;283	ENSP00000235372:P484S;ENSP00000312352:P484S;ENSP00000411103:P283S;ENSP00000341621:P283S	ENSP00000235372:P484S	P	+	1	0	PRDM2	13978327	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	5.757000	0.68766	2.564000	0.86499	0.561000	0.74099	CCG	PRDM2	-	smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2		0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14105740	1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14105740	C	T	14105740	3	4	94	1	0	0	0	0	1	0	0	0	12485	855	30	1	1476	1	PRDM2	1	14105740	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1186769	14105740	235144881	2	13387										
HNRNPR	10236	genome.wustl.edu	37	chr1	23667363	23667363	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acctgtctgaaatatttcatCaagtctttctgccaccttct	4	12	6	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:23667363C>G	ENST00000374612.1	-	2	262	c.139G>C	c.(139-141)Gat>Cat	p.D47H	HNRNPR_ENST00000478691.1_Intron|HNRNPR_ENST00000302271.6_Missense_Mutation_p.D47H|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000374616.3_Missense_Mutation_p.D47H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.D47H	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	47	Asp/Glu-rich (acidic).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AATATTTCATCAAGTCTTTCT	0.383																																																	0													234	211	219					1																	23667363		2203	4300	6503	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.139G>C	1.37:g.23667363C>G	ENSP00000363741:p.Asp47His		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.D47H	ENST00000374612.1	37	c.139	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837663	0.50951	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	T;T;T;T	0.22743	1.94;1.94;1.94;2.14	5.93	5.93	0.95920	.	0.112513	0.64402	D	0.000003	T	0.48537	0.1505	M	0.73430	2.235	0.80722	D	1	D;B;P	0.71674	0.998;0.353;0.819	D;B;P	0.70487	0.969;0.179;0.614	T	0.31364	-0.9946	10	0.46703	T	0.11	-5.5691	18.9006	0.92440	0.0:1.0:0.0:0.0	.	47;47;47	Q2L7G6;O43390;O43390-2	.;HNRPR_HUMAN;.	H	47	ENSP00000363745:D47H;ENSP00000363741:D47H;ENSP00000304405:D47H;ENSP00000392799:D47H	ENSP00000304405:D47H	D	-	1	0	HNRNPR	23539950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.805000	0.96524	0.655000	0.94253	GAT	HNRNPR	-	NULL		0.383	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23667363	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23667363	C	G	23667363	3	3	94	1	0	0	0	0	1	0	0	0	7292	826	29	1	1811	1	HNRNPR	1	23667363	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	9561623	23667363	225583258	3	13388										
IQCC	55721	genome.wustl.edu	37	chr1	32673549	32673549	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gaacctccaatgagcctagtCatgaaggacagaaaaagcag	10	9	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:32673549C>T	ENST00000291358.6	+	5	1288	c.1267C>T	c.(1267-1269)Cat>Tat	p.H423Y	IQCC_ENST00000537469.1_Missense_Mutation_p.H503Y|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	423										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAGCCTAGTCATGAAGGACA	0.507																																																	0													80	90	87					1																	32673549		2203	4300	6503	SO:0001583	missense	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1267C>T	1.37:g.32673549C>T	ENSP00000291358:p.His423Tyr		F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.H503Y	ENST00000291358.6	37	c.1507	CCDS355.1	1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652134	0.29336	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.25085	1.82;1.85	3.76	1.77	0.24775	.	0.961386	0.08574	N	0.925590	T	0.25044	0.0608	L	0.32530	0.975	0.09310	N	1	D;D	0.60160	0.987;0.987	P;P	0.49085	0.6;0.6	T	0.16276	-1.0408	10	0.59425	D	0.04	0.8206	6.4119	0.21696	0.2106:0.5854:0.204:0.0	.	503;423	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	Y	503;423	ENSP00000442291:H503Y;ENSP00000291358:H423Y	ENSP00000291358:H423Y	H	+	1	0	IQCC	32446136	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.512000	0.06313	0.516000	0.28340	0.491000	0.48974	CAT	IQCC	-	NULL		0.507	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCC	HGNC	protein_coding	OTTHUMT00000015731.3	C	NM_018134		32673549	1	no_errors	ENST00000537469	ensembl	human	known	70_37	missense	SNP	0.001	T	T	32673549	C	T	32673549	3	4	94	1	0	0	0	0	1	0	0	0	7824	826	29	1	1525	1	IQCC	1	32673549	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	9006186	32673549	216577072	4	13389										
HIVEP3	59269	genome.wustl.edu	37	chr1	42048469	42048469	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gctttgcgatctgaagctctGagcagtagtattttttgtgg	12	6	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:42048469G>C	ENST00000372583.1	-	4	2885	c.2000C>G	c.(1999-2001)tCa>tGa	p.S667*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.S667*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.S667*|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.S667*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	667	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTGAAGCTCTGAGCAGTAGTA	0.458																																																	0													122	124	123					1																	42048469		2203	4300	6503	SO:0001587	stop_gained	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2000C>G	1.37:g.42048469G>C	ENSP00000361664:p.Ser667*		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S667*	ENST00000372583.1	37	c.2000	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.731818	0.99692	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	4.47	4.47	0.54385	.	0.000000	0.44097	D	0.000497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.538	16.914	0.86147	0.0:0.0:1.0:0.0	.	.	.	.	X	667	.	ENSP00000247584:S667X	S	-	2	0	HIVEP3	41821056	1.000000	0.71417	0.990000	0.47175	0.924000	0.55760	7.098000	0.76974	2.326000	0.78906	0.555000	0.69702	TCA	HIVEP3	-	pfscan_Znf_C2H2		0.458	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	G	NM_024503		42048469	-1	no_errors	ENST00000247584	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	42048469	G	C	42048469	4	2	94	1	0	0	0	0	0	1	0	0	7208	1294	45	1	5244	1	HIVEP3	1	42048469	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	9374920	42048469	207202152	5	13390										
MPL	4352	genome.wustl.edu	37	chr1	43812572	43812572	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	caagagacctgttatcaactCcgatacacaggagaaggcca	9	11	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:43812572C>G	ENST00000372470.3	+	8	1317	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	MPL_ENST00000413998.2_Silent_p.L425L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	425	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GTTATCAACTCCGATACACAG	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)		yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	L	0													54	49	51					1																	43812572		2203	4300	6503	SO:0001819	synonymous_variant	4352			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1275C>G	1.37:g.43812572C>G			Q5JUZ0	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L425	ENST00000372470.3	37	c.1275	CCDS483.1	1																																																																																			MPL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.572	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	HGNC	protein_coding	OTTHUMT00000019522.1	C	NM_005373		43812572	1	no_errors	ENST00000372470	ensembl	human	known	70_37	silent	SNP	0.997	G	G	43812572	C	G	43812572	2	3	94	1	0	0	0	0	0	0	0	1	9753	842	30	1		1	MPL	1	43812572	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1764103	43812572	205438049	6	13391										
TESK2	10420	genome.wustl.edu	37	chr1	45810904	45810904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggccaggggctcctgccagtCagccaggggcatagttccgg	16	13	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:45810904C>T	ENST00000372086.3	-	11	1724	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.D413N|TESK2_ENST00000538496.1_Missense_Mutation_p.D359N|TESK2_ENST00000341771.6_Missense_Mutation_p.D413N	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	442					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCTGCCAGTCAGCCAGGGGC	0.587																																																	0													41	45	44					1																	45810904		1906	4108	6014	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1324G>A	1.37:g.45810904C>T	ENSP00000361158:p.Asp442Asn		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D442N	ENST00000372086.3	37	c.1324	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365461	0.24684	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.74737	-0.75;-0.6;-0.75;-0.87	5.89	5.89	0.94794	.	0.416659	0.25186	N	0.032499	T	0.59649	0.2209	N	0.11560	0.145	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.53049	-0.8493	10	0.31617	T	0.26	-9.8488	18.4274	0.90613	0.0:1.0:0.0:0.0	.	413;442	Q96S53-3;Q96S53	.;TESK2_HUMAN	N	413;442;426;413;359	ENSP00000361156:D413N;ENSP00000361158:D442N;ENSP00000343940:D413N;ENSP00000441746:D359N	ENSP00000343940:D413N	D	-	1	0	TESK2	45583491	0.998000	0.40836	0.996000	0.52242	0.548000	0.35241	3.150000	0.50662	2.781000	0.95711	0.555000	0.69702	GAC	TESK2	-	NULL		0.587	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	C	NM_007170		45810904	-1	no_errors	ENST00000372086	ensembl	human	known	70_37	missense	SNP	0.985	T	T	45810904	C	T	45810904	3	4	94	1	0	0	0	0	1	0	0	0	15798	826	29	1	395	1	TESK2	1	45810904	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1998332	45810904	203439717	7	13392										
DOCK7	85440	genome.wustl.edu	37	chr1	62959997	62959997	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ttccggtcctccagcatgctCaaatattcagcaacaagtgc	7	13	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:62959997C>G	ENST00000340370.5	-	39	5090	c.5073G>C	c.(5071-5073)ttG>ttC	p.L1691F	DOCK7_ENST00000251157.5_Missense_Mutation_p.L1713F	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1722	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCAGCATGCTCAAATATTCAG	0.443																																																	0													98	79	85					1																	62959997		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5073G>C	1.37:g.62959997C>G	ENSP00000340742:p.Leu1691Phe		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L1713F	ENST00000340370.5	37	c.5139	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.12|18.12	3.552745|3.552745	0.65425|0.65425	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05717	.|3.4;3.4	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33556|0.33556	0.0867|0.0867	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;0.999	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.997;0.999;0.999;0.994;0.991	T|T	0.30387|0.30387	-0.9980|-0.9980	5|10	.|0.87932	.|D	.|0	.|.	10.7528|10.7528	0.46219|0.46219	0.0:0.8601:0.0:0.1399|0.0:0.8601:0.0:0.1399	.|.	.|1722;1713;1691;1682;1682;1713	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	Q|F	885|1722;1713;1691;452	.|ENSP00000251157:L1713F;ENSP00000340742:L1691F	.|ENSP00000251157:L1713F	E|L	-|-	1|3	0|2	DOCK7|DOCK7	62732585|62732585	0.969000|0.969000	0.33509|0.33509	0.998000|0.998000	0.56505|0.56505	0.844000|0.844000	0.47949|0.47949	0.046000|0.046000	0.14035|0.14035	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|TTG	DOCK7	-	NULL		0.443	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	C	NM_033407		62959997	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62959997	C	G	62959997	3	3	94	1	0	0	0	0	1	0	0	0	4702	825	29	1	1300	1	DOCK7	1	62959997	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	17149093	62959997	186290624	8	13393										
JAK1	3716	genome.wustl.edu	37	chr1	65332599	65332599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	attcccagtcaccatcacttCgtagtagagaacgtttccac	6	13	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:65332599C>T	ENST00000342505.4	-	7	1188	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	314	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACCATCACTTCGTAGTAGAGA	0.418			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													158	142	147					1																	65332599		1973	4156	6129	SO:0001583	missense	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.940G>A	1.37:g.65332599C>T	ENSP00000343204:p.Glu314Lys		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.E314K	ENST00000342505.4	37	c.940	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.499599	0.96355	.	.	ENSG00000162434	ENST00000342505	T	0.77750	-1.12	5.59	5.59	0.84812	FERM domain (1);	.	.	.	.	T	0.63307	0.2500	M	0.72118	2.19	0.58432	D	0.999999	P	0.50710	0.938	B	0.29353	0.101	T	0.68496	-0.5393	9	0.23891	T	0.37	-7.2123	19.9758	0.97304	0.0:1.0:0.0:0.0	.	314	P23458	JAK1_HUMAN	K	314	ENSP00000343204:E314K	ENSP00000343204:E314K	E	-	1	0	JAK1	65105187	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.396000	0.73234	2.795000	0.96236	0.655000	0.94253	GAA	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.418	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	C	NM_002227		65332599	-1	no_errors	ENST00000342505	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65332599	C	T	65332599	3	4	94	1	0	0	0	0	1	0	0	0	7957	893	31	1	2600	1	JAK1	1	65332599	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	2372602	65332599	183918022	9	13394										
AMPD1	270	genome.wustl.edu	37	chr1	115231303	115231303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aatctcctgacgacctccttCatctttgacttcagaggcaa	6	13	4	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:115231303C>T	ENST00000520113.2	-	3	208	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	AMPD1_ENST00000369538.3_Missense_Mutation_p.E61K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E32K			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	65					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGACCTCCTTCATCTTTGACT	0.423																																																	0													147	143	145					1																	115231303		2203	4300	6503	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.193G>A	1.37:g.115231303C>T	ENSP00000430075:p.Glu65Lys		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.E65K	ENST00000520113.2	37	c.193	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	C	31	5.076323	0.94000	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.58506	0.33;0.33;0.33	5.62	5.62	0.85841	.	0.047530	0.85682	D	0.000000	T	0.64483	0.2602	L	0.42245	1.32	0.58432	D	0.999999	P;D	0.67145	0.948;0.996	P;D	0.65233	0.573;0.933	T	0.64521	-0.6388	10	0.59425	D	0.04	-26.247	20.0247	0.97519	0.0:1.0:0.0:0.0	.	61;32	Q5TF02;P23109	.;AMPD1_HUMAN	K	65;61;32	ENSP00000430075:E65K;ENSP00000358551:E61K;ENSP00000316520:E32K	ENSP00000316520:E32K	E	-	1	0	AMPD1	115032826	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.114000	0.77103	2.804000	0.96469	0.655000	0.94253	GAA	AMPD1	-	pirsf_AMP_deaminase		0.423	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	C			115231303	-1	no_errors	ENST00000520113	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115231303	C	T	115231303	3	4	94	1	0	0	0	0	1	0	0	0	585	835	29	1	2205	1	AMPD1	1	115231303	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	49898704	115231303	134019318	10	13395										
FLG	2312	genome.wustl.edu	37	chr1	152279239	152279239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acccagcctgtccgtgggctGacactgactgtgtgtctgag	13	12	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:152279239G>A	ENST00000368799.1	-	3	8158	c.8123C>T	c.(8122-8124)tCa>tTa	p.S2708L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2708	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGGGCTGACACTGACTG	0.567									Ichthyosis																																								0													5	8	7					1																	152279239		1414	3368	4782	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8123C>T	1.37:g.152279239G>A	ENSP00000357789:p.Ser2708Leu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S2708L	ENST00000368799.1	37	c.8123	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877127	0.17395	.	.	ENSG00000143631	ENST00000368799	T	0.03745	3.82	3.48	0.256	0.15567	.	.	.	.	.	T	0.04497	0.0123	M	0.70595	2.14	0.09310	N	1	D	0.69078	0.997	P	0.60682	0.878	T	0.27640	-1.0068	9	0.46703	T	0.11	.	6.2577	0.20884	0.0:0.1796:0.4515:0.3688	.	2708	P20930	FILA_HUMAN	L	2708	ENSP00000357789:S2708L	ENSP00000357789:S2708L	S	-	2	0	FLG	150545863	0.001000	0.12720	0.000000	0.03702	0.084000	0.17831	0.492000	0.22435	-0.037000	0.13646	0.306000	0.20318	TCA	FLG	-	NULL		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152279239	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152279239	G	A	152279239	3	1	94	1	0	0	0	0	1	0	0	0	5940	1294	45	1	4066	1	FLG	1	152279239	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	37047936	152279239	96971382	11	13396										
TDRD10	126668	genome.wustl.edu	37	chr1	154516982	154516982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cacctgggggattatggacaCgcctggaacaggtgtgtgcc	15	10	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:154516982C>T	ENST00000368480.3	+	10	871	c.786C>T	c.(784-786)caC>caT	p.H262H	TDRD10_ENST00000368482.4_Silent_p.H262H|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	262	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATTATGGACACGCCTGGAACA	0.607																																																	0													28	31	30					1																	154516982		2203	4300	6503	SO:0001819	synonymous_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.786C>T	1.37:g.154516982C>T			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H262	ENST00000368480.3	37	c.786	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor		0.607	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	C	NM_182499		154516982	1	no_errors	ENST00000368480	ensembl	human	known	70_37	silent	SNP	0.018	T	T	154516982	C	T	154516982	2	4	94	1	0	0	0	0	0	0	0	1	15761	535	19	2		2	TDRD10	1	154516982	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	2237743	154516982	94733639	12	13397										
PKLR	5313	genome.wustl.edu	37	chr1	155270044	155270044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cctgggtcagttgggccacaCtggcccgccgcagatacccc	12	17	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:155270044C>G	ENST00000342741.4	-	2	166	c.128G>C	c.(127-129)aGt>aCt	p.S43T	PKLR_ENST00000392414.3_Missense_Mutation_p.S12T	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	43					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTGGGCCACACTGGCCCGCCG	0.632																																																	0													22	23	23					1																	155270044		2202	4297	6499	SO:0001583	missense	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.128G>C	1.37:g.155270044C>G	ENSP00000339933:p.Ser43Thr		O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.S43T	ENST00000342741.4	37	c.128	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960637	0.34565	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741	D;D	0.99677	-6.31;-6.37	4.61	3.68	0.42216	.	0.239223	0.40818	N	0.001001	D	0.96904	0.8989	L	0.36672	1.1	0.28079	N	0.932254	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	D	0.97300	0.9930	10	0.51188	T	0.08	-1.3971	5.9997	0.19513	0.1909:0.7108:0.0:0.0983	.	43;34	P30613;B1AVT1	KPYR_HUMAN;.	T	68;12;43	ENSP00000376214:S12T;ENSP00000339933:S43T	ENSP00000339933:S43T	S	-	2	0	PKLR	153536668	0.703000	0.27826	0.914000	0.36105	0.882000	0.50991	1.553000	0.36255	1.020000	0.39573	0.579000	0.79373	AGT	PKLR	-	NULL		0.632	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	C	NM_000298		155270044	-1	no_errors	ENST00000342741	ensembl	human	known	70_37	missense	SNP	0.960	G	G	155270044	C	G	155270044	3	3	94	1	0	0	0	0	1	0	0	0	12000	565	20	4	1636	4	PKLR	1	155270044	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	753062	155270044	93980577	13	13398										
CCT3	7203	genome.wustl.edu	37	chr1	156290801	156290801	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agcatcatatcactgtcactGatgtcgactgggatactaga	9	9	3	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:156290801G>T	ENST00000295688.3	-	7	718	c.438C>A	c.(436-438)atC>atA	p.I146I	CCT3_ENST00000368261.3_Silent_p.I101I|CCT3_ENST00000368259.2_Silent_p.I108I|CCT3_ENST00000472765.2_Silent_p.I101I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	146					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CACTGTCACTGATGTCGACTG	0.423																																																	0													142	123	129					1																	156290801		2203	4300	6503	SO:0001819	synonymous_variant	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.438C>A	1.37:g.156290801G>T			A6NE14|Q5SZY1|Q9BR64	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.I146	ENST00000295688.3	37	c.438	CCDS1140.2	1																																																																																			CCT3	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma		0.423	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	G	NM_005998		156290801	-1	no_errors	ENST00000295688	ensembl	human	known	70_37	silent	SNP	0.119	T	T	156290801	G	T	156290801	2	4	94	1	0	0	0	0	0	0	0	1	2959	1280	45	3		3	CCT3	1	156290801	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	1020757	156290801	92959820	14	13399										
NIT1	4817	genome.wustl.edu	37	chr1	161090430	161090430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cagtggtggcccgctgctctGaggggccaggcctctgcctt	15	14	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:161090430G>C	ENST00000368009.2	+	7	935	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.E272Q|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.E251Q	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	287	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCGCTGCTCTGAGGGGCCAGG	0.612																																																	0													55	54	55					1																	161090430		2203	4300	6503	SO:0001583	missense	4817			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.859G>C	1.37:g.161090430G>C	ENSP00000356988:p.Glu287Gln		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.E287Q	ENST00000368009.2	37	c.859	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439268	0.43326	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	T;T;T	0.44881	0.91;0.91;0.91	4.9	4.9	0.64082	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.192584	0.44097	D	0.000481	T	0.26195	0.0639	M	0.65677	2.01	0.58432	D	0.999996	P;B	0.36944	0.574;0.235	B;B	0.27262	0.078;0.053	T	0.13308	-1.0514	10	0.36615	T	0.2	-4.8361	15.6362	0.76953	0.0:0.0:1.0:0.0	.	272;287	Q86X76-4;Q86X76	.;NIT1_HUMAN	Q	287;272;251	ENSP00000356988:E287Q;ENSP00000356986:E272Q;ENSP00000376028:E251Q	ENSP00000356986:E272Q	E	+	1	0	NIT1	159357054	1.000000	0.71417	0.973000	0.42090	0.737000	0.42083	6.656000	0.74396	2.551000	0.86045	0.563000	0.77884	GAG	NIT1	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase		0.612	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	HGNC	protein_coding	OTTHUMT00000077060.1	G			161090430	1	no_errors	ENST00000368009	ensembl	human	known	70_37	missense	SNP	1.000	C	C	161090430	G	C	161090430	3	2	94	1	0	0	0	0	1	0	0	0	10457	1291	45	1	942	1	NIT1	1	161090430	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	4799629	161090430	88160191	15	13400										
CD247	919	genome.wustl.edu	37	chr1	167404653	167404653	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cacattgtacaggccttcctGagggttcttccttctctgct	8	13	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:167404653G>T	ENST00000362089.5	-	5	391	c.319C>A	c.(319-321)Cag>Aag	p.Q107K	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.Q106K			P20963	CD3Z_HUMAN	CD247 molecule	107	ITAM 2. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	AGGCCTTCCTGAGGGTTCTTC	0.532																																					Ovarian(192;1815 2869 36877 43334)												0													101	94	97					1																	167404653		2203	4300	6503	SO:0001583	missense	919			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"CD molecules"	1677	protein-coding gene	gene with protein product		186780	"CD3z antigen, zeta polypeptide (TiT3 complex)", "CD247 antigen"	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.319C>A	1.37:g.167404653G>T	ENSP00000354782:p.Gln107Lys		B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.Q107K	ENST00000362089.5	37	c.319	CCDS1261.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529105	0.27387	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	4.32	2.29	0.28610	.	0.741843	0.11177	U	0.591324	T	0.32164	0.0820	L	0.54323	1.7	0.27484	N	0.952472	P;B;B	0.50943	0.94;0.102;0.062	P;B;B	0.46543	0.52;0.115;0.053	T	0.08472	-1.0720	8	0.41790	T	0.15	-7.9718	10.3623	0.44001	0.0:0.0:0.6482:0.3518	.	107;106;107	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	K	106;107	.	ENSP00000354782:Q107K	Q	-	1	0	CD247	165671277	0.535000	0.26370	0.643000	0.29450	0.890000	0.51754	2.581000	0.46077	1.018000	0.39521	0.655000	0.94253	CAG	CD247	-	NULL		0.532	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	G	NM_198053		167404653	-1	no_errors	ENST00000362089	ensembl	human	known	70_37	missense	SNP	0.220	T	T	167404653	G	T	167404653	3	4	94	1	0	0	0	0	1	0	0	0	2993	1299	45	3	191	3	CD247	1	167404653	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6314223	167404653	81845968	16	13401										
ABL2	27	genome.wustl.edu	37	chr1	179077403	179077403	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ttggctcttctgtagggtctGagcagatggacggatgctgc	15	8	3	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:179077403G>C	ENST00000502732.1	-	12	3202	c.2999C>G	c.(2998-3000)tCa>tGa	p.S1000*	ABL2_ENST00000344730.3_Nonsense_Mutation_p.S882*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.S964*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.S861*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S985*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.S876*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S897*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S979*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1000	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGTAGGGTCTGAGCAGATGGA	0.567			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													127	117	120					1																	179077403		2203	4300	6503	SO:0001587	stop_gained	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2999C>G	1.37:g.179077403G>C	ENSP00000427562:p.Ser1000*		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S1000*	ENST00000502732.1	37	c.2999	CCDS30947.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288395	0.80803	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.4	5.4	0.78164	.	0.316600	0.22750	N	0.056098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.1823	0.65583	0.0:0.1495:0.8505:0.0	.	.	.	.	X	1000;964;882;985;861;979;876;897	.	ENSP00000339209:S882X	S	-	2	0	ABL2	177344026	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	5.659000	0.68010	2.679000	0.91253	0.655000	0.94253	TCA	ABL2	-	NULL		0.567	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	G	NM_005158		179077403	-1	no_errors	ENST00000502732	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	179077403	G	C	179077403	4	2	94	1	0	0	0	0	0	1	0	0	93	1294	45	1	553	1	ABL2	1	179077403	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	11672750	179077403	70173218	17	13402										
CEP350	9857	genome.wustl.edu	37	chr1	180053269	180053269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aacagaaaaaaaggcaaaagGaaagactgaaagcccaagaa	9	6	0	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:180053269G>C	ENST00000367607.3	+	31	6659	c.6241G>C	c.(6241-6243)Gaa>Caa	p.E2081Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2081					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGGCAAAAGGAAAGACTGAA	0.423																																																	0													76	71	73					1																	180053269		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6241G>C	1.37:g.180053269G>C	ENSP00000356579:p.Glu2081Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2081Q	ENST00000367607.3	37	c.6241	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.651600|4.651600	0.88056|0.88056	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000437245|ENST00000429851	T;T|.	0.61859|.	0.07;0.07|.	5.39|5.39	4.46|4.46	0.54185|0.54185	.|.	0.000000|.	0.46145|.	D|.	0.000312|.	T|T	0.70718|0.70718	0.3256|0.3256	M|M	0.64567|0.64567	1.98|1.98	0.48571|0.48571	D|D	0.999677|0.999677	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.83275|.	0.986;0.996|.	T|T	0.70185|0.70185	-0.4941|-0.4941	9|5	.|.	.|.	.|.	.|.	15.3409|15.3409	0.74296|0.74296	0.0:0.0:0.8593:0.1407|0.0:0.0:0.8593:0.1407	.|.	2081;2081|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|A	2081;88|255	ENSP00000356579:E2081Q;ENSP00000409395:E88Q|.	.|.	E|G	+|+	1|2	0|0	CEP350|CEP350	178319892|178319892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.434000|9.434000	0.97515|0.97515	1.225000|1.225000	0.43566|0.43566	0.555000|0.555000	0.69702|0.69702	GAA|GGA	CEP350	-	NULL		0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180053269	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	C	C	180053269	G	C	180053269	3	2	94	1	0	0	0	0	1	0	0	0	3259	1175	41	1	6359	1	CEP350	1	180053269	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	975866	180053269	69197352	18	13403										
GLT25D2	23127	genome.wustl.edu	37	chr1	183914630	183914630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cccttgttagaggcctggagGaatagggatctcgatagcca	13	9	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:183914630G>A	ENST00000361927.4	-	9	1576	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	COLGALT2_ENST00000367521.1_Missense_Mutation_p.S10F|COLGALT2_ENST00000367520.3_Missense_Mutation_p.S139F|COLGALT2_ENST00000546159.1_Missense_Mutation_p.S402F	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	402					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AGGCCTGGAGGAATAGGGATC	0.448																																																	0													151	147	148					1																	183914630		2203	4300	6503	SO:0001583	missense	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1205C>T	1.37:g.183914630G>A	ENSP00000354960:p.Ser402Phe		O60327|Q9BZR0	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.S402F	ENST00000361927.4	37	c.1205	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285964	0.80803	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	T;T	0.77620	-1.1;-1.11	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.63843	1.955	0.80722	D	1	D;D;D	0.65815	0.995;0.969;0.992	P;D;D	0.66497	0.83;0.917;0.944	T	0.81446	-0.0929	10	0.19590	T	0.45	.	19.1449	0.93461	0.0:0.0:1.0:0.0	.	402;402;139	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	F	402;402;10;139	ENSP00000439112:S402F;ENSP00000354960:S402F	ENSP00000354960:S402F	S	-	2	0	GLT25D2	182181253	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.013000	0.64023	2.525000	0.85131	0.557000	0.71058	TCC	GLT25D2	-	pfam_Glyco_trans_25		0.448	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D2	HGNC	protein_coding	OTTHUMT00000086128.1	G	NM_015101		183914630	-1	no_errors	ENST00000361927	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183914630	G	A	183914630	3	1	94	1	0	0	0	0	1	0	0	0	6486	1174	41	1	691	1	GLT25D2	1	183914630	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	3861361	183914630	65335991	19	13404										
PRG4	10216	genome.wustl.edu	37	chr1	186276585	186276585	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acccccaagaagcctgccccAactacccccaaggagcctgc	7	20	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:186276585A>C	ENST00000445192.2	+	7	1779	c.1734A>C	c.(1732-1734)ccA>ccC	p.P578P	PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367483.4_Silent_p.P537P|PRG4_ENST00000367485.4_Silent_p.P485P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	578	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGCCTGCCCCAACTACCCCCA	0.642																																																	0													89	92	91					1																	186276585		2203	4300	6503	SO:0001819	synonymous_variant	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1734A>C	1.37:g.186276585A>C			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P578	ENST00000445192.2	37	c.1734	CCDS1369.1	1																																																																																			PRG4	-	NULL		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	A	NM_005807		186276585	1	no_errors	ENST00000445192	ensembl	human	known	70_37	silent	SNP	0.000	C	C	186276585	A	C	186276585	2	2	94	1	0	0	0	0	0	0	0	1	12508	117	5	5		5	PRG4	1	186276585	Silent	SNP	A	TCGA-EK-A2H0-01A-11D-A17W-09	2361955	186276585	62974036	20	13405										
ASPM	259266	genome.wustl.edu	37	chr1	197073358	197073358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agcattttttaggctcaaaaAttcctttttagaaacataag	5	6	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:197073358A>G	ENST00000367409.4	-	18	5279	c.5023T>C	c.(5023-5025)Ttt>Ctt	p.F1675L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1675	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGCTCAAAAATTCCTTTTTA	0.313																																																	0													54	55	54					1																	197073358		2200	4294	6494	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5023T>C	1.37:g.197073358A>G	ENSP00000356379:p.Phe1675Leu		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.F1675L	ENST00000367409.4	37	c.5023	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303788	0.81136	.	.	ENSG00000066279	ENST00000367409	T	0.72835	-0.69	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	M	0.90309	3.105	0.80722	D	1	P	0.46142	0.873	P	0.55923	0.787	D	0.86854	0.2025	10	0.54805	T	0.06	.	15.1137	0.72380	1.0:0.0:0.0:0.0	.	1675	Q8IZT6	ASPM_HUMAN	L	1675	ENSP00000356379:F1675L	ENSP00000356379:F1675L	F	-	1	0	ASPM	195339981	0.999000	0.42202	0.932000	0.37286	0.860000	0.49131	4.135000	0.57997	2.232000	0.73038	0.477000	0.44152	TTT	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	A	NM_018136		197073358	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.999	G	G	197073358	A	G	197073358	3	3	94	1	0	0	0	0	1	0	0	0	1057	101	4	5	5454	5	ASPM	1	197073358	Missense_Mutation	SNP	A	TCGA-EK-A2H0-01A-11D-A17W-09	10796773	197073358	52177263	21	13406										
TATDN3	128387	genome.wustl.edu	37	chr1	212985578	212985578	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tttaaacttagctgctttctCttttctctaagaagcagaaa	5	8	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:212985578C>G	ENST00000366974.4	+	9	694				TATDN3_ENST00000525569.1_Intron|TATDN3_ENST00000532324.1_Missense_Mutation_p.L204V|TATDN3_ENST00000526641.1_Intron|TATDN3_ENST00000526997.1_Intron|TATDN3_ENST00000531963.1_Missense_Mutation_p.L204V|TATDN3_ENST00000366973.4_Intron	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GCTGCTTTCTCTTTTCTCTAA	0.303																																																	0													41	42	42					1																	212985578		2200	4299	6499	SO:0001627	intron_variant	128387			AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.601-12C>G	1.37:g.212985578C>G			A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	pfam_TatD_family,pirsf_TatD_family	p.L204V	ENST00000366974.4	37	c.610	CCDS31019.1	1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.031073	0.02029	.	.	ENSG00000203705	ENST00000532324;ENST00000531963	.	.	.	5.24	-1.12	0.09808	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.49798	D	0.999828	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.09422	-1.0675	8	0.16420	T	0.52	.	2.4903	0.04608	0.1694:0.1548:0.1164:0.5594	.	204;204	G3V151;E9PJE5	.;.	V	204	.	ENSP00000433755:L204V	L	+	1	0	TATDN3	211052201	0.705000	0.27846	0.031000	0.17742	0.019000	0.09904	-0.028000	0.12350	-0.418000	0.07450	-0.914000	0.02751	CTT	TATDN3	-	pfam_TatD_family,pirsf_TatD_family		0.303	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TATDN3	HGNC	protein_coding	OTTHUMT00000089396.2	C	XM_375838		212985578	1	no_errors	ENST00000531963	ensembl	human	putative	70_37	missense	SNP	0.275	G	G	212985578	C	G	212985578	1	3	94	0	1	0	0	0	0	0	0	0	15623	913	32	1		1	TATDN3	1	212985578	Intron	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	15912220	212985578	36265043	22	13407										
ARF1	375	genome.wustl.edu	37	chr1	228285143	228285143	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctgtggcgccactacttccaGaacacacaaggtaagtggct	10	12	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:228285143G>A	ENST00000541182.1	+	3	511	c.249G>A	c.(247-249)caG>caA	p.Q83Q	ARF1_ENST00000272102.5_Silent_p.Q83Q|ARF1_ENST00000540651.1_Silent_p.Q83Q|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	83					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				ACTACTTCCAGAACACACAAG	0.597																																																	0													66	66	66					1																	228285143		2203	4300	6503	SO:0001819	synonymous_variant	375			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.249G>A	1.37:g.228285143G>A			P10947|P32889	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q83	ENST00000541182.1	37	c.249	CCDS1565.1	1																																																																																			ARF1	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.597	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	HGNC	protein_coding	OTTHUMT00000091650.1	G	NM_001024227		228285143	1	no_errors	ENST00000272102	ensembl	human	known	70_37	silent	SNP	1.000	A	A	228285143	G	A	228285143	2	1	94	1	0	0	0	0	0	0	0	1	844	933	33	1		1	ARF1	1	228285143	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	15299565	228285143	20965478	23	13408										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232538176	232538176	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gagttgtcgaagaattaattCcagctgattgactttcccgg	10	8	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:232538176C>G	ENST00000366630.1	-	21	5342	c.4984G>C	c.(4984-4986)Gaa>Caa	p.E1662Q	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E718Q|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1662Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1662					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAATTAATTCCAGCTGATTG	0.398																																																	0													147	138	141					1																	232538176		1854	4097	5951	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4984G>C	1.37:g.232538176C>G	ENSP00000355589:p.Glu1662Gln		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E1662Q	ENST00000366630.1	37	c.4984	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855876	0.71834	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.42131	0.98;0.98;0.98	5.47	5.47	0.80525	.	0.102243	0.64402	D	0.000004	T	0.66489	0.2794	M	0.73598	2.24	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.63659	-0.6587	10	0.41790	T	0.15	-23.4889	19.5817	0.95469	0.0:1.0:0.0:0.0	.	1662;718	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1662;1662;718	ENSP00000355589:E1662Q;ENSP00000262861:E1662Q;ENSP00000309102:E718Q	ENSP00000262861:E1662Q	E	-	1	0	SIPA1L2	230604799	1.000000	0.71417	0.998000	0.56505	0.135000	0.20990	7.343000	0.79319	2.850000	0.98022	0.650000	0.86243	GAA	SIPA1L2	-	pfam_DUF3401		0.398	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232538176	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	G	G	232538176	C	G	232538176	3	3	94	1	0	0	0	0	1	0	0	0	14360	864	30	1	192	1	SIPA1L2	1	232538176	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	4253033	232538176	16712445	24	13409										
MTR	4548	genome.wustl.edu	37	chr1	236995308	236995309	+	Frame_Shift_Ins	INS	-	-	CATTT													0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccgtacaccaactttgttaaINScattggagagcgctgtaatg							TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:236995308_236995309insCATTT	ENST00000366577.5	+	13	1512_1513	c.1118_1119insCATTT	c.(1117-1122)aacattfs	p.-374fs	MTR_ENST00000535889.1_Frame_Shift_Ins_p.-374fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						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)			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)	AACTTTGTTAACATTGGAGAGC	0.416																																																	0																																										SO:0001589	frameshift_variant	4548			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	Exception_encountered	1.37:g.236995308_236995309insCATTT	ENSP00000355536:p.Ile374fs		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Ins	INS	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.G375fs	ENST00000366577.5	37	c.1118_1119	CCDS1614.1	1																																																																																			MTR	-	pfam_Pterin-binding,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH		0.416	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	NM_000254		236995309	1	no_errors	ENST00000366577	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CATTT	CATTT	236995309	-	CATTT	236995308	7	5	94	1	0	1	1	0	0	0	0	0	9981	43	2	0	1168	0	MTR	1	236995308	Frame_Shift_Ins	INS	-	TCGA-EK-A2H0-01A-11D-A17W-09	4457132	236995308	12255313	25	13410										
FMN2	56776	genome.wustl.edu	37	chr1	240497525	240497525	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agaaaactgaagaaagacttGaaaggtaacttaaaatcctg	8	5	0	5			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr1:240497525G>T	ENST00000319653.9	+	13	4991	c.4761G>T	c.(4759-4761)ttG>ttT	p.L1587F	FMN2_ENST00000545751.1_Missense_Mutation_p.L183F	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAAGACTTGAAAGGTAACT	0.348																																																	0													95	108	104					1																	240497525		2202	4297	6499	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4761G>T	1.37:g.240497525G>T	ENSP00000318884:p.Leu1587Phe		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.L1587F	ENST00000319653.9	37	c.4761	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121546	0.37436	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.19250	2.16;2.16	5.56	1.59	0.23543	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.295721	0.23631	N	0.046140	T	0.26484	0.0647	L	0.38838	1.175	0.80722	D	1	B;B;P;P	0.49696	0.059;0.009;0.863;0.927	B;B;P;P	0.61397	0.037;0.007;0.496;0.888	T	0.03287	-1.1052	10	0.52906	T	0.07	.	4.7783	0.13190	0.2053:0.0:0.5363:0.2585	.	183;233;216;1587	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	F	1587;183;214;63	ENSP00000318884:L1587F;ENSP00000437918:L183F	ENSP00000318884:L1587F	L	+	3	2	FMN2	238564148	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	0.914000	0.28624	0.039000	0.15632	0.591000	0.81541	TTG	FMN2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.348	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240497525	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.992	T	T	240497525	G	T	240497525	3	4	94	1	0	0	0	0	1	0	0	0	5968	1281	45	3	4811	3	FMN2	1	240497525	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	3502217	240497525	8753096	26	13411										
MYT1L	23040	genome.wustl.edu	37	chr2	1915828	1915828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgttgctgttgacatgcccgCgccccgtgcagcccggagtg	14	14	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:1915828C>T	ENST00000399161.2	-	12	2420	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	MYT1L_ENST00000428368.2_Missense_Mutation_p.R556H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	558					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATGCCCGCGCCCCGTGCA	0.597																																																	0													45	48	47					2																	1915828		2055	4221	6276	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1673G>A	2.37:g.1915828C>T	ENSP00000382114:p.Arg558His		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.R558H	ENST00000399161.2	37	c.1673		2	.	.	.	.	.	.	.	.	.	.	C	32	5.109976	0.94292	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.57107	0.43;0.42	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.966	T	0.74463	-0.3657	10	0.72032	D	0.01	-14.8821	19.1783	0.93612	0.0:1.0:0.0:0.0	.	558;556	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	H	558;504;556	ENSP00000382114:R558H;ENSP00000396103:R556H	ENSP00000295067:R504H	R	-	2	0	MYT1L	1894835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.677000	0.84024	2.595000	0.87683	0.561000	0.74099	CGC	MYT1L	-	pfam_Znf_C2HC		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1915828	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1915828	C	T	1915828	3	4	94	1	0	0	0	0	1	0	0	0	10130	768	27	2	1943	2	MYT1L	2	1915828	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		1915828	241283545	27	13412										
SMC6	79677	genome.wustl.edu	37	chr2	17889941	17889941	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgtctctatgcctctcatgtCaattaggctatttgccacaa	6	11	3	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:17889941C>G	ENST00000448223.2	-	17	2079	c.1810G>C	c.(1810-1812)Gac>Cac	p.D604H	SMC6_ENST00000351948.4_Missense_Mutation_p.D604H|SMC6_ENST00000402989.1_Missense_Mutation_p.D604H|SMC6_ENST00000381272.4_Missense_Mutation_p.D630H	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	604	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCTCATGTCAATTAGGCTA	0.348																																																	0													105	101	102					2																	17889941		2203	4300	6503	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1810G>C	2.37:g.17889941C>G	ENSP00000404092:p.Asp604His		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.D630H	ENST00000448223.2	37	c.1888	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499474	0.85069	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.42900	2.15;2.15;2.15;2.15;0.96	6.03	6.03	0.97812	RecF/RecN/SMC (1);	0.041423	0.85682	D	0.000000	T	0.64450	0.2599	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.995;0.998	T	0.64296	-0.6441	10	0.59425	D	0.04	.	15.6618	0.77193	0.0:0.9331:0.0:0.0669	.	630;630;604	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	H	604;604;630;604;630	ENSP00000404092:D604H;ENSP00000323439:D604H;ENSP00000370672:D630H;ENSP00000384539:D604H;ENSP00000408644:D630H	ENSP00000323439:D604H	D	-	1	0	SMC6	17753422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.096000	0.64535	2.861000	0.98227	0.655000	0.94253	GAC	SMC6	-	NULL		0.348	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	C	NM_024624		17889941	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17889941	C	G	17889941	3	3	94	1	0	0	0	0	1	0	0	0	14817	826	29	1	1513	1	SMC6	2	17889941	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	15974113	17889941	225309432	28	13413										
C2orf16	84226	genome.wustl.edu	37	chr2	27804570	27804570	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtccctctgagagaagacatCacagtccctctaagagaagc	9	12	3	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:27804570C>T	ENST00000408964.2	+	1	5182	c.5131C>T	c.(5131-5133)Cac>Tac	p.H1711Y	AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1711	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGACATCACAGTCCCTC	0.577																																																	0													167	169	169					2																	27804570		1925	4137	6062	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5131C>T	2.37:g.27804570C>T	ENSP00000386190:p.His1711Tyr		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.H1711Y	ENST00000408964.2	37	c.5131	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908073	0.17833	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	3.34	1.5	0.22942	.	.	.	.	.	T	0.06826	0.0174	L	0.50333	1.59	0.09310	N	1	P	0.47604	0.898	B	0.43867	0.434	T	0.32214	-0.9915	9	0.16896	T	0.51	.	6.204	0.20591	0.1828:0.7103:0.0:0.1069	.	1711	Q68DN1	CB016_HUMAN	Y	1711	ENSP00000386190:H1711Y	ENSP00000386190:H1711Y	H	+	1	0	C2orf16	27658074	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.139000	0.10358	0.401000	0.25424	-0.475000	0.04921	CAC	C2orf16	-	NULL		0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	C	NM_032266		27804570	1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.003	T	T	27804570	C	T	27804570	3	4	94	1	0	0	0	0	1	0	0	0	2162	826	29	1	5133	1	C2orf16	2	27804570	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	9914629	27804570	215394803	29	13414										
PCBP1	5093	genome.wustl.edu	37	chr2	70315274	70315274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acgggggcgcaggtccaggtGgcgggggatatgctgcccaa	19	10	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:70315274G>A	ENST00000303577.5	+	1	690	c.399G>A	c.(397-399)gtG>gtA	p.V133V	PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	133	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						AGGTCCAGGTGGCGGGGGATA	0.637																																					Colon(85;1146 1307 3484 18706 25380)												0													48	54	52					2																	70315274		2203	4300	6503	SO:0001819	synonymous_variant	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.399G>A	2.37:g.70315274G>A			Q13157|Q14975	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.V133	ENST00000303577.5	37	c.399	CCDS1898.1	2																																																																																			PCBP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.637	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBP1	HGNC	protein_coding	OTTHUMT00000251844.1	G	NM_006196		70315274	1	no_errors	ENST00000303577	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70315274	G	A	70315274	2	1	94	1	0	0	0	0	0	0	0	1	11524	1335	47	4		4	PCBP1	2	70315274	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	42510704	70315274	172884099	30	13415										
POLR1B	84172	genome.wustl.edu	37	chr2	113306925	113306925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctcggagaaattttcccattGcaatgataagaccaaaatgg	8	8	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:113306925G>T	ENST00000263331.5	+	4	1154	c.574G>T	c.(574-576)Gca>Tca	p.A192S	POLR1B_ENST00000541869.1_Missense_Mutation_p.A230S|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.A136S|POLR1B_ENST00000409894.3_Missense_Mutation_p.A192S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	192					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTTCCCATTGCAATGATAAG	0.343																																					Ovarian(16;256 576 9537 23969 41147)												0													56	60	59					2																	113306925		2203	4299	6502	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.574G>T	2.37:g.113306925G>T	ENSP00000263331:p.Ala192Ser		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.A230S	ENST00000263331.5	37	c.688	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.250862	0.95305	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.63	5.63	0.86233	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.66939	2.045	0.80722	D	1	D;D;P;D	0.76494	0.998;0.999;0.909;0.999	D;D;P;D	0.80764	0.972;0.994;0.646;0.99	T	0.77273	-0.2649	10	0.46703	T	0.11	-17.2684	18.4811	0.90812	0.0:0.0:1.0:0.0	.	230;192;136;192	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	S	192;230;192;136	ENSP00000263331:A192S;ENSP00000444136:A230S;ENSP00000387143:A192S;ENSP00000405358:A136S	ENSP00000263331:A192S	A	+	1	0	POLR1B	113023396	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.797000	0.99108	2.652000	0.90054	0.655000	0.94253	GCA	POLR1B	-	pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2		0.343	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	G	NM_019014		113306925	1	no_errors	ENST00000541869	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113306925	G	T	113306925	3	4	94	1	0	0	0	0	1	0	0	0	12234	1319	46	4	588	4	POLR1B	2	113306925	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	42991651	113306925	129892448	31	13416										
NMI	9111	genome.wustl.edu	37	chr2	152132175	152132175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gattttcattttagaaacttCtacataaacctggaaaatga	5	6	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:152132175C>G	ENST00000243346.5	-	6	927	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	153					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TTAGAAACTTCTACATAAACC	0.343																																																	0													72	77	75					2																	152132175		2203	4300	6503	SO:0001583	missense	9111			U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.457G>C	2.37:g.152132175C>G	ENSP00000243346:p.Glu153Gln		B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.E153Q	ENST00000243346.5	37	c.457	CCDS2192.1	2	.	.	.	.	.	.	.	.	.	.	C	7.071	0.568354	0.13560	.	.	ENSG00000123609	ENST00000243346	T	0.42131	0.98	5.33	3.12	0.35913	Nmi/IFP 35 (1);Nucleotide-binding, alpha-beta plait (1);	0.753274	0.13847	N	0.358644	T	0.21921	0.0528	N	0.15975	0.35	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.13361	-1.0512	10	0.23302	T	0.38	-2.9384	4.7632	0.13118	0.0:0.6172:0.2401:0.1427	.	153	Q13287	NMI_HUMAN	Q	153	ENSP00000243346:E153Q	ENSP00000243346:E153Q	E	-	1	0	NMI	151840421	0.011000	0.17503	0.150000	0.22450	0.817000	0.46193	1.326000	0.33735	1.378000	0.46305	0.591000	0.81541	GAA	NMI	-	pfam_Nmi/IFP35		0.343	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMI	HGNC	protein_coding	OTTHUMT00000254817.2	C	NM_004688		152132175	-1	no_errors	ENST00000243346	ensembl	human	known	70_37	missense	SNP	0.035	G	G	152132175	C	G	152132175	3	3	94	1	0	0	0	0	1	0	0	0	10521	922	32	1	478	1	NMI	2	152132175	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	38825250	152132175	91067198	32	13417										
LRP2	4036	genome.wustl.edu	37	chr2	170062614	170062614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tagacccatcttcagccatgGaattaatcatctggttgagg	9	9	4	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:170062614G>A	ENST00000263816.3	-	40	7760	c.7475C>T	c.(7474-7476)tCc>tTc	p.S2492F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2492					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTCAGCCATGGAATTAATCAT	0.458																																																	0													150	143	145					2																	170062614		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7475C>T	2.37:g.170062614G>A	ENSP00000263816:p.Ser2492Phe		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S2492F	ENST00000263816.3	37	c.7475	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.257518	0.95368	.	.	ENSG00000081479	ENST00000263816	D	0.91011	-2.77	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94563	0.7764	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2492	P98164	LRP2_HUMAN	F	2492	ENSP00000263816:S2492F	ENSP00000263816:S2492F	S	-	2	0	LRP2	169770860	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCC	LRP2	-	smart_LDLR_classB_rpt		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170062614	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170062614	G	A	170062614	3	1	94	1	0	0	0	0	1	0	0	0	8979	1174	41	1	6652	1	LRP2	2	170062614	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	17930439	170062614	73136759	33	13418										
ANKRD44	91526	genome.wustl.edu	37	chr2	197870440	197870440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ttgtaacaagcccagtgcagCggcgtgtagccttggttatc	12	10	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr2:197870440C>T	ENST00000328737.2	-	21	2326	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	ANKRD44_ENST00000337207.5_Silent_p.P750P|ANKRD44_ENST00000450567.1_Silent_p.P750P|ANKRD44_ENST00000282272.8_Silent_p.P767P			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	775										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCCAGTGCAGCGGCGTGTAGC	0.537																																																	0													100	91	94					2																	197870440		2203	4300	6503	SO:0001819	synonymous_variant	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2250G>A	2.37:g.197870440C>T			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P750	ENST00000328737.2	37	c.2250		2																																																																																			ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.537	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197870440	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	silent	SNP	0.001	T	T	197870440	C	T	197870440	2	4	94	1	0	0	0	0	0	0	0	1	672	755	27	2		2	ANKRD44	2	197870440	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	27807826	197870440	45328933	34	13419										
FYCO1	79443	genome.wustl.edu	37	chr3	45999964	45999964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gcagggctgggctctccctgGctagtgcctgagccactgct	14	14	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:45999964G>T	ENST00000296137.2	-	13	3940	c.3735C>A	c.(3733-3735)agC>agA	p.S1245R	FYCO1_ENST00000535325.1_Missense_Mutation_p.S1245R|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1245					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTCTCCCTGGCTAGTGCCTG	0.612																																																	0													47	42	44					3																	45999964		2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3735C>A	3.37:g.45999964G>T	ENSP00000296137:p.Ser1245Arg		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.S1245R	ENST00000296137.2	37	c.3735	CCDS2734.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.285875|3.285875	0.59867|0.59867	.|.	.|.	ENSG00000163820|ENSG00000163820	ENST00000433878|ENST00000296137;ENST00000535325	.|T;T	.|0.24151	.|1.87;1.89	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.510720	.|0.20843	.|N	.|0.084676	T|T	0.36880|0.36880	0.0983|0.0983	L|L	0.56769|0.56769	1.78|1.78	0.32028|0.32028	N|N	0.599894|0.599894	.|D;D	.|0.55800	.|0.973;0.963	.|P;B	.|0.48873	.|0.593;0.408	T|T	0.48490|0.48490	-0.9031|-0.9031	5|10	.|0.66056	.|D	.|0.02	-18.9904|-18.9904	16.6688|16.6688	0.85260|0.85260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1245;1245	.|B7ZKT7;Q9BQS8	.|.;FYCO1_HUMAN	D|R	34|1245	.|ENSP00000296137:S1245R;ENSP00000441178:S1245R	.|ENSP00000296137:S1245R	A|S	-|-	2|3	0|2	FYCO1|FYCO1	45974968|45974968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.312000|3.312000	0.51927|0.51927	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCC|AGC	FYCO1	-	NULL		0.612	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	G	NM_024513		45999964	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45999964	G	T	45999964	3	4	94	1	0	0	0	0	1	0	0	0	6143	1194	42	4	725	4	FYCO1	3	45999964	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09		45999964	152022466	35	13420										
DNAH12	201625	genome.wustl.edu	37	chr3	57494205	57494205	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gatgaataatgtgcaaattaGagaatatttgatttcttgcc	8	4	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:57494205G>A	ENST00000351747.2	-	7	785	c.605C>T	c.(604-606)tCt>tTt	p.S202F	DNAH12_ENST00000311202.6_Missense_Mutation_p.S202F|DNAH12_ENST00000389536.4_Missense_Mutation_p.S202F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	202	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S202C(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTGCAAATTAGAGAATATTTG	0.343																																																	2	Substitution - Missense(2)	lung(2)											55	57	56					3																	57494205		2203	4298	6501	SO:0001583	missense	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.605C>T	3.37:g.57494205G>A	ENSP00000295937:p.Ser202Phe		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S202F	ENST00000351747.2	37	c.605		3	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708972	0.30322	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.24151	2.02;1.87;3.49;2.96	4.94	2.82	0.32997	.	2.199570	0.02175	N	0.060068	T	0.36744	0.0978	L	0.38175	1.15	0.09310	N	1	D;B	0.54397	0.966;0.412	P;B	0.50860	0.652;0.133	T	0.49790	-0.8902	10	0.66056	D	0.02	.	14.0706	0.64856	0.0:0.0:0.5961:0.4039	.	202;202	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	F	202	ENSP00000295937:S202F;ENSP00000418137:S202F;ENSP00000374187:S202F;ENSP00000312554:S202F	ENSP00000312554:S202F	S	-	2	0	DNAH12	57469245	0.754000	0.28360	0.847000	0.33407	0.877000	0.50540	1.982000	0.40638	1.016000	0.39470	0.460000	0.39030	TCT	DNAH12	-	NULL		0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		G	NM_178504		57494205	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	missense	SNP	0.001	A	A	57494205	G	A	57494205	3	1	94	1	0	0	0	0	1	0	0	0	4610	942	33	1	8928	1	DNAH12	3	57494205	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	11494241	57494205	140528225	36	13421										
EBLN2	55096	genome.wustl.edu	37	chr3	73111492	73111492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgggaaaaacagacagtatcCactggatgcattggaacccc	10	10	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:73111492C>T	ENST00000533473.1	+	1	683	c.260C>T	c.(259-261)cCa>cTa	p.P87L	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	87										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AGACAGTATCCACTGGATGCA	0.488																																																	0													35	34	35					3																	73111492		1949	4131	6080	SO:0001583	missense	55096				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.260C>T	3.37:g.73111492C>T	ENSP00000432104:p.Pro87Leu		Q8WWH3|Q9NW89	Missense_Mutation	SNP	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	p.P87L	ENST00000533473.1	37	c.260	CCDS54608.1	3	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549692	0.27652	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	0.458	0.16670	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.39118	0.1066	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	D	0.71870	0.975	T	0.22417	-1.0217	7	0.72032	D	0.01	.	.	.	.	.	87	Q6P2I7	EBLN2_HUMAN	L	87	.	ENSP00000432104:P87L	P	+	2	0	EBLN2	73194182	0.086000	0.21541	0.002000	0.10522	0.002000	0.02628	0.305000	0.19254	0.482000	0.27582	0.484000	0.47621	CCA	EBLN2	-	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir		0.488	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBLN2	HGNC	protein_coding	OTTHUMT00000386932.1	C	NM_018029		73111492	1	no_errors	ENST00000533473	ensembl	human	known	70_37	missense	SNP	0.002	T	T	73111492	C	T	73111492	3	4	94	1	0	0	0	0	1	0	0	0	4894	594	21	4	262	4	EBLN2	3	73111492	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	15617287	73111492	124910938	37	13422										
KIAA2018	205717	genome.wustl.edu	37	chr3	113376217	113376217	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atgctgctgcagggcctgtaGatgctgacttgcctgggttt	14	9	0	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:113376217G>C	ENST00000478658.1	-	5	4329	c.4312C>G	c.(4312-4314)Cta>Gta	p.L1438V	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.L1438V			Q68DE3	K2018_HUMAN	KIAA2018	1438	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGGGCCTGTAGATGCTGACTT	0.498																																																	0													81	85	83					3																	113376217		2186	4279	6465	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4312C>G	3.37:g.113376217G>C	ENSP00000420721:p.Leu1438Val		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L1438V	ENST00000478658.1	37	c.4312	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485186	0.44147	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15834	2.39;2.39	5.16	5.16	0.70880	.	0.086846	0.48286	D	0.000188	T	0.23806	0.0576	L	0.29908	0.895	0.37271	D	0.907401	D	0.76494	0.999	D	0.65874	0.939	T	0.06991	-1.0796	10	0.72032	D	0.01	-8.0568	6.1726	0.20427	0.2162:0.0:0.7838:0.0	.	1438	Q68DE3	K2018_HUMAN	V	1438	ENSP00000320794:L1438V;ENSP00000420721:L1438V	ENSP00000320794:L1438V	L	-	1	2	KIAA2018	114858907	1.000000	0.71417	0.896000	0.35187	0.954000	0.61252	3.538000	0.53597	2.686000	0.91538	0.491000	0.48974	CTA	KIAA2018	-	NULL		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	G	NM_001009899		113376217	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	0.905	C	C	113376217	G	C	113376217	3	2	94	1	0	0	0	0	1	0	0	0	8288	933	33	1	2429	1	KIAA2018	3	113376217	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	40264725	113376217	84646213	38	13423										
IL12A	3592	genome.wustl.edu	37	chr3	159710811	159710811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ttttataggccagacaaactCtagaattttacccttgcact	5	10	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:159710811C>G	ENST00000305579.2	+	3	584	c.277C>G	c.(277-279)Cta>Gta	p.L93V	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Missense_Mutation_p.L93V	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	59					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGACAAACTCTAGAATTTTA	0.418																																																	0													97	110	105					3																	159710811		2202	4300	6502	SO:0001583	missense	3592			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.277C>G	3.37:g.159710811C>G	ENSP00000303231:p.Leu93Val		Q96QZ1	Missense_Mutation	SNP	pfam_IL12,superfamily_4_helix_cytokine-like_core	p.L93V	ENST00000305579.2	37	c.277	CCDS3187.1	3	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259478	0.23051	.	.	ENSG00000168811	ENST00000305579;ENST00000466512	.	.	.	5.66	1.88	0.25563	.	0.537429	0.16667	N	0.204542	T	0.64994	0.2649	M	0.80183	2.485	0.22096	N	0.999367	D	0.63880	0.993	D	0.80764	0.994	T	0.53265	-0.8463	9	0.66056	D	0.02	-8.814	7.2618	0.26207	0.0:0.6505:0.0:0.3495	.	93	O60595	.	V	93	.	ENSP00000303231:L93V	L	+	1	2	IL12A	161193505	0.009000	0.17119	0.155000	0.22561	0.108000	0.19459	0.177000	0.16801	0.325000	0.23359	0.563000	0.77884	CTA	IL12A	-	pfam_IL12,superfamily_4_helix_cytokine-like_core		0.418	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12A	HGNC	protein_coding	OTTHUMT00000352602.2	C	NM_000882		159710811	1	no_errors	ENST00000305579	ensembl	human	known	70_37	missense	SNP	0.166	G	G	159710811	C	G	159710811	3	3	94	1	0	0	0	0	1	0	0	0	7644	912	32	1	287	1	IL12A	3	159710811	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	46334594	159710811	38311619	39	13424										
SI	6476	genome.wustl.edu	37	chr3	164757752	164757752	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aatccagctgttcgtatcctCataaaacctaagaacaatga	5	10	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:164757752C>T	ENST00000264382.3	-	19	2229	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	723	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCGTATCCTCATAAAACCTA	0.348										HNSCC(35;0.089)																																							0													107	111	110					3																	164757752		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2167G>A	3.37:g.164757752C>T	ENSP00000264382:p.Glu723Lys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E723K	ENST00000264382.3	37	c.2167	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	3.709	-0.059843	0.07317	.	.	ENSG00000090402	ENST00000264382	D	0.83755	-1.76	4.99	-1.55	0.08558	.	0.693236	0.14617	N	0.308625	T	0.65154	0.2664	L	0.31752	0.955	0.09310	N	1	B	0.19200	0.034	B	0.19391	0.025	T	0.48502	-0.9030	10	0.09843	T	0.71	.	4.4575	0.11650	0.1355:0.3267:0.4016:0.1362	.	723	P14410	SUIS_HUMAN	K	723	ENSP00000264382:E723K	ENSP00000264382:E723K	E	-	1	0	SI	166240446	0.030000	0.19436	0.037000	0.18230	0.519000	0.34347	-0.390000	0.07332	-0.228000	0.09869	-0.953000	0.02652	GAG	SI	-	pfam_Glyco_hydro_31		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164757752	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.000	T	T	164757752	C	T	164757752	3	4	94	1	0	0	0	0	1	0	0	0	14327	835	29	1	3436	1	SI	3	164757752	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	5046941	164757752	33264678	40	13425										
SPATA16	83893	genome.wustl.edu	37	chr3	172835168	172835168	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atttccacatccattatgttCtttaaggggatgtgaggcag	10	7	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr3:172835168C>G	ENST00000351008.3	-	2	537	c.354G>C	c.(352-354)aaG>aaC	p.K118N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CCATTATGTTCTTTAAGGGGA	0.418																																																	0													344	317	326					3																	172835168		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.354G>C	3.37:g.172835168C>G	ENSP00000341765:p.Lys118Asn		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	NULL	p.K118N	ENST00000351008.3	37	c.354	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443670	0.43429	.	.	ENSG00000144962	ENST00000351008	T	0.17054	2.3	5.67	4.77	0.60923	.	0.097221	0.45126	D	0.000391	T	0.09423	0.0232	N	0.17082	0.46	0.32148	N	0.584595	P	0.39759	0.687	B	0.34779	0.189	T	0.11275	-1.0594	10	0.39692	T	0.17	-17.4842	8.7339	0.34516	0.0:0.7658:0.1492:0.085	.	118	Q9BXB7	SPT16_HUMAN	N	118	ENSP00000341765:K118N	ENSP00000341765:K118N	K	-	3	2	SPATA16	174317862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.183000	0.32041	1.324000	0.45282	0.555000	0.69702	AAG	SPATA16	-	NULL		0.418	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	C	NM_031955		172835168	-1	no_errors	ENST00000351008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172835168	C	G	172835168	3	3	94	1	0	0	0	0	1	0	0	0	15031	912	32	1	1395	1	SPATA16	3	172835168	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	8077416	172835168	25187262	41	13426										
SEL1L3	23231	genome.wustl.edu	37	chr4	25806242	25806242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atgctttatggtatccacagCagctggaatccgtcagaaag	10	9	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr4:25806242C>T	ENST00000399878.3	-	10	1819	c.1697G>A	c.(1696-1698)tGc>tAc	p.C566Y	SEL1L3_ENST00000264868.5_Missense_Mutation_p.C531Y|SEL1L3_ENST00000502949.1_Missense_Mutation_p.C413Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	566						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTATCCACAGCAGCTGGAATC	0.443																																																	0													83	79	80					4																	25806242		1908	4138	6046	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1697G>A	4.37:g.25806242C>T	ENSP00000382767:p.Cys566Tyr		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.C566Y	ENST00000399878.3	37	c.1697	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240839	0.79912	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.17213	2.47;2.49;2.29	6.02	6.02	0.97574	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.66939	2.045	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.13953	-1.0490	10	0.66056	D	0.02	-31.2151	20.5407	0.99260	0.0:1.0:0.0:0.0	.	566	Q68CR1	SE1L3_HUMAN	Y	566;531;413	ENSP00000382767:C566Y;ENSP00000264868:C531Y;ENSP00000425438:C413Y	ENSP00000264868:C531Y	C	-	2	0	SEL1L3	25415340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.677000	0.68142	2.865000	0.98341	0.655000	0.94253	TGC	SEL1L3	-	NULL		0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	C	NM_015187		25806242	-1	no_errors	ENST00000399878	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25806242	C	T	25806242	3	4	94	1	0	0	0	0	1	0	0	0	14042	710	25	4	1761	4	SEL1L3	4	25806242	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		25806242	165348034	42	13427										
C4orf34	201895	genome.wustl.edu	37	chr4	39558162	39558162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	accaagatcattgtaacactGatgccattatcaccagaggg	8	10	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr4:39558162G>C	ENST00000295958.5	-	4	539	c.153C>G	c.(151-153)atC>atG	p.I51M	SMIM14_ENST00000511809.1_Intron|SMIM14_ENST00000510628.1_5'UTR|UGDH-AS1_ENST00000504032.1_RNA	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTGTAACACTGATGCCATTAT	0.378																																																	0													96	84	88					4																	39558162		2203	4300	6503	SO:0001583	missense	201895			BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 34"	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.153C>G	4.37:g.39558162G>C	ENSP00000295958:p.Ile51Met			Nonsense_Mutation	SNP	pfam_Uncharacterised_CD034/YQF4	p.S35*	ENST00000295958.5	37	c.104	CCDS3456.1	4	.	.	.	.	.	.	.	.	.	.	G	19.45	3.828941	0.71258	.	.	ENSG00000163683	ENST00000295958;ENST00000505729	.	.	.	5.28	4.44	0.53790	.	0.214276	0.37955	N	0.001870	T	0.41419	0.1158	.	.	.	0.80722	D	1	P	0.39022	0.655	B	0.34536	0.185	T	0.27157	-1.0082	8	0.34782	T	0.22	-11.5323	12.9381	0.58327	0.0789:0.0:0.9211:0.0	.	51	Q96QK8	CD034_HUMAN	M	51	.	ENSP00000295958:I51M	I	-	3	3	C4orf34	39234557	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.271000	0.51608	1.213000	0.43380	-0.136000	0.14681	ATC	C4orf34	-	NULL		0.378	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C4orf34	HGNC	protein_coding	OTTHUMT00000250434.4	G	NM_174921		39558162	-1	no_errors	ENST00000507613	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	39558162	G	C	39558162	3	2	94	1	0	0	0	0	1	0	0	0	2269	1280	45	1	154	1	C4orf34	4	39558162	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	13751920	39558162	151596114	43	13428										
SLC10A4	201780	genome.wustl.edu	37	chr4	48490485	48490485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtgactctggtggtccttttCataatgaccggcactatgtt	10	9	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr4:48490485C>G	ENST00000273861.4	+	3	1062	c.843C>G	c.(841-843)ttC>ttG	p.F281L	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGGTCCTTTTCATAATGACCG	0.443																																																	0													173	175	174					4																	48490485		2203	4300	6503	SO:0001583	missense	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.843C>G	4.37:g.48490485C>G	ENSP00000273861:p.Phe281Leu		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.F281L	ENST00000273861.4	37	c.843	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985330	0.53934	.	.	ENSG00000145248	ENST00000273861	T	0.13420	2.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.72894	2.215	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.00435	-1.1741	10	0.40728	T	0.16	-16.0927	20.0359	0.97557	0.0:1.0:0.0:0.0	.	281	Q96EP9	NTCP4_HUMAN	L	281	ENSP00000273861:F281L	ENSP00000273861:F281L	F	+	3	2	SLC10A4	48185242	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.636000	0.61339	2.805000	0.96524	0.655000	0.94253	TTC	SLC10A4	-	pfam_BilAc/Na_symport		0.443	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	C	NM_152679		48490485	1	no_errors	ENST00000273861	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48490485	C	G	48490485	3	3	94	1	0	0	0	0	1	0	0	0	14406	825	29	1	853	1	SLC10A4	4	48490485	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	8932323	48490485	142663791	44	13429										
GRIA2	2891	genome.wustl.edu	37	chr4	158242732	158242732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agaaaaagaataccctggagCtcacacaacaacaattaagg	7	9	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr4:158242732C>T	ENST00000264426.9	+	6	1142	c.863C>T	c.(862-864)gCt>gTt	p.A288V	GRIA2_ENST00000296526.7_Missense_Mutation_p.A288V|GRIA2_ENST00000507898.1_Missense_Mutation_p.A241V|GRIA2_ENST00000449365.1_Missense_Mutation_p.A241V|GRIA2_ENST00000393815.2_Missense_Mutation_p.A241V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	288					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TACCCTGGAGCTCACACAACA	0.373																																																	0													115	124	121					4																	158242732		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.863C>T	4.37:g.158242732C>T	ENSP00000264426:p.Ala288Val		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A288V	ENST00000264426.9	37	c.863	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343338	0.82022	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.46	5.46	0.80206	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;P;D	0.80764	0.901;0.855;0.994	D	0.84472	0.0600	10	0.18710	T	0.47	.	19.2964	0.94124	0.0:1.0:0.0:0.0	.	288;288;241	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	V	241;241;288;288;241	ENSP00000426845:A241V;ENSP00000377403:A241V;ENSP00000296526:A288V;ENSP00000264426:A288V;ENSP00000389837:A241V	ENSP00000264426:A288V	A	+	2	0	GRIA2	158462182	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.306000	0.78905	2.549000	0.85964	0.591000	0.81541	GCT	GRIA2	-	pfam_ANF_lig-bd_rcpt		0.373	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	C			158242732	1	no_errors	ENST00000264426	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158242732	C	T	158242732	3	4	94	1	0	0	0	0	1	0	0	0	6788	797	28	4	885	4	GRIA2	4	158242732	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	109752247	158242732	32911544	45	13430										
FAT1	2195	genome.wustl.edu	37	chr4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcttcccaatgacgccacctGagtattcttctccagaagag	7	13	3	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr4:187525001G>C	ENST00000441802.2	-	19	10888	c.10679C>G	c.(10678-10680)tCa>tGa	p.S3560*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3560	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACGCCACCTGAGTATTCTTC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													86	87	87					4																	187525001		1962	4139	6101	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10679C>G	4.37:g.187525001G>C	ENSP00000406229:p.Ser3560*			Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S3560*	ENST00000441802.2	37	c.10679	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	53	20.266983	0.99929	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	5.06	0.68205	.	0.208574	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.6333	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	3560;3562	.	ENSP00000260147:S3562X	S	-	2	0	FAT1	187761995	1.000000	0.71417	0.849000	0.33467	0.740000	0.42216	7.814000	0.86154	2.636000	0.89361	0.563000	0.77884	TCA	FAT1	-	superfamily_Cadherin-like		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187525001	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	0.999	C	C	187525001	G	C	187525001	4	2	94	1	0	0	0	0	0	1	0	0	5707	1294	45	1	3123	1	FAT1	4	187525001	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	29282269	187525001	3629275	46	13431										
FLJ37543	285668	genome.wustl.edu	37	chr5	60982894	60982894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcacatcttcctgcagttttCtatgtaagtaatgaagctct	6	9	4	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:60982894C>G	ENST00000505642.1	+	3	297	c.222C>G	c.(220-222)ttC>ttG	p.F74L	RP11-2O17.2_ENST00000507264.1_RNA|C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.F74L|RP11-2O17.2_ENST00000513386.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	74						extracellular region (GO:0005576)				breast(1)	1						CTGCAGTTTTCTATGTAAGTA	0.393																																																	0													114	109	110					5																	60982894		1880	4098	5978	SO:0001583	missense	285668				CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.222C>G	5.37:g.60982894C>G	ENSP00000423157:p.Phe74Leu		Q2M2H1|Q8N1U8	Missense_Mutation	SNP	NULL	p.F74L	ENST00000505642.1	37	c.222	CCDS54860.1	5	.	.	.	.	.	.	.	.	.	.	C	6.439	0.449131	0.12223	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.36520	1.25;1.25	5.14	-5.52	0.02560	.	1.146150	0.06887	N	0.803629	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.23891	0.093	B	0.19666	0.026	T	0.25467	-1.0131	10	0.21014	T	0.42	-0.0943	6.4313	0.21798	0.0:0.2723:0.3251:0.4026	.	74	Q2M2E5	CE064_HUMAN	L	74	ENSP00000423157:F74L;ENSP00000318395:F74L	ENSP00000318395:F74L	F	+	3	2	C5orf64	61018651	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.923000	0.00692	-0.908000	0.03857	0.655000	0.94253	TTC	C5orf64	-	NULL		0.393	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf64	HGNC	protein_coding	OTTHUMT00000368790.1	C	NM_173667		60982894	1	no_errors	ENST00000313303	ensembl	human	known	70_37	missense	SNP	0.000	G	G	60982894	C	G	60982894	3	3	94	1	0	0	0	0	1	0	0	0	5947	912	32	1	228	1	FLJ37543	5	60982894	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		60982894	119932366	47	13432										
VCAN	1462	genome.wustl.edu	37	chr5	82818048	82818048	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctttggacctcaggcgctttCtacgccacagcccccagcaa	8	17	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:82818048C>G	ENST00000265077.3	+	7	4488	c.3923C>G	c.(3922-3924)tCt>tGt	p.S1308C	VCAN_ENST00000342785.4_Missense_Mutation_p.S1308C|VCAN_ENST00000512590.2_Missense_Mutation_p.S1260C|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1308	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGGCGCTTTCTACGCCACAG	0.443																																																	0													59	60	60					5																	82818048		2203	4299	6502	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3923C>G	5.37:g.82818048C>G	ENSP00000265077:p.Ser1308Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1308C	ENST00000265077.3	37	c.3923	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585133	0.28268	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.89617	-2.54;-2.27;-2.29	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000007	D	0.93726	0.7995	M	0.74258	2.255	0.33459	D	0.584719	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95800	0.8832	10	0.87932	D	0	.	13.2992	0.60315	0.0:0.9281:0.0:0.0719	.	1308;1308	P13611-3;P13611	.;CSPG2_HUMAN	C	1308;1308;1260	ENSP00000265077:S1308C;ENSP00000342768:S1308C;ENSP00000425959:S1260C	ENSP00000265077:S1308C	S	+	2	0	VCAN	82853804	0.997000	0.39634	0.485000	0.27403	0.003000	0.03518	3.573000	0.53856	2.756000	0.94617	0.655000	0.94253	TCT	VCAN	-	NULL		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82818048	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.760	G	G	82818048	C	G	82818048	3	3	94	1	0	0	0	0	1	0	0	0	17169	913	32	1	3945	1	VCAN	5	82818048	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	21835154	82818048	98097212	48	13433										
ANKHD1	54882	genome.wustl.edu	37	chr5	139908053	139908053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgttccaacaaatgtacgttCttctttcccagtttctctac	4	12	3	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:139908053C>T	ENST00000360839.2	+	29	5676	c.5522C>T	c.(5521-5523)tCt>tTt	p.S1841F	SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1841F|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S224F|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S1841F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1841						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGTACGTTCTTCTTTCCCA	0.453																																																	0													158	155	156					5																	139908053		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5522C>T	5.37:g.139908053C>T	ENSP00000354085:p.Ser1841Phe		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.S1841F	ENST00000360839.2	37	c.5522	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889311	0.52014	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.67698	-0.25;-0.28;1.82;1.83;1.41;-0.28	4.98	4.09	0.47781	.	0.134929	0.52532	D	0.000063	T	0.74543	0.3730	L	0.47716	1.5	0.39331	D	0.965411	D;D;D;P;P	0.69078	0.997;0.989;0.978;0.94;0.94	D;P;P;P;P	0.67725	0.953;0.809;0.694;0.459;0.459	T	0.77869	-0.2427	10	0.72032	D	0.01	.	13.9174	0.63908	0.0:0.925:0.0:0.075	.	224;271;1841;1841;1841	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	F	1841;1841;1841;497;276;363;224;1841	ENSP00000354085:S1841F;ENSP00000297183:S1841F;ENSP00000393204:S497F;ENSP00000390034:S363F;ENSP00000437687:S224F;ENSP00000432016:S1841F	ENSP00000432016:S1841F	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.672000	0.68102	2.595000	0.87683	0.650000	0.86243	TCT	ANKHD1	-	NULL		0.453	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139908053	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139908053	C	T	139908053	3	4	94	1	0	0	0	0	1	0	0	0	628	913	32	1	5742	1	ANKHD1	5	139908053	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	57090005	139908053	41007207	49	13434										
PCDHGA1	56114	genome.wustl.edu	37	chr5	140710615	140710615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agctttttcctgttgaagtaGaaataattgatattaatgac	7	4	0	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:140710615G>C	ENST00000517417.1	+	1	364	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E122Q	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAAGTAGAAATAATTGA	0.418																																																	0													91	106	101					5																	140710615		2203	4300	6503	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.364G>C	5.37:g.140710615G>C	ENSP00000431083:p.Glu122Gln		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E122Q	ENST00000517417.1	37	c.364	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252977	0.59212	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52983	0.64;0.65	4.2	4.2	0.49525	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000110	T	0.64832	0.2634	M	0.85777	2.775	0.29713	N	0.839217	D;P	0.54207	0.965;0.848	P;P	0.52554	0.702;0.507	T	0.69877	-0.5026	10	0.87932	D	0	.	16.7229	0.85414	0.0:0.0:1.0:0.0	.	122;122	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Q	122	ENSP00000431083:E122Q;ENSP00000367345:E122Q	ENSP00000367345:E122Q	E	+	1	0	PCDHGA1	140690799	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	4.371000	0.59523	2.349000	0.79799	0.655000	0.94253	GAA	PCDHGA1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	G	NM_018912		140710615	1	no_errors	ENST00000517417	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140710615	G	C	140710615	3	2	94	1	0	0	0	0	1	0	0	0	11574	943	33	1	366	1	PCDHGA1	5	140710615	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	802562	140710615	40204645	50	13435										
YIPF5	81555	genome.wustl.edu	37	chr5	143543784	143543785	+	Frame_Shift_Ins	INS	-	-	T													0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cggatgtaatactgttagtgINSttttttgccagatgtggtca							TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:143543784_143543785insT	ENST00000274496.5	-	4	453_454	c.319_320insA	c.(319-321)acafs	p.T107fs	YIPF5_ENST00000448443.2_Frame_Shift_Ins_p.T107fs|YIPF5_ENST00000513112.1_Frame_Shift_Ins_p.T53fs	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	107					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TACTGTTAGTGTTTTTTGCCAG	0.332																																																	0																																										SO:0001589	frameshift_variant	81555			AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.320dupA	5.37:g.143543790_143543790dupT	ENSP00000274496:p.Thr107fs		D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Frame_Shift_Ins	INS	pfam_Yip1	p.T107fs	ENST00000274496.5	37	c.320_319	CCDS4279.1	5																																																																																			YIPF5	-	pfam_Yip1		0.332	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF5	HGNC	protein_coding	OTTHUMT00000251882.1	-	NM_030799		143543785	-1	no_errors	ENST00000274496	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	143543785	-	T	143543784	7	5	94	1	0	1	1	0	0	0	0	0	17512	1377	48	0	465	0	YIPF5	5	143543784	Frame_Shift_Ins	INS	-	TCGA-EK-A2H0-01A-11D-A17W-09	2833169	143543784	37371476	51	13436										
ARSI	340075	genome.wustl.edu	37	chr5	149677811	149677811	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atagaggaagaggggacgctGagggctgtggctggccagga	20	6	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:149677811G>C	ENST00000328668.7	-	2	1255	c.676C>G	c.(676-678)Cag>Gag	p.Q226E		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	226					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGGACGCTGAGGGCTGTGG	0.627																																																	0													57	58	57					5																	149677811		2203	4300	6503	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.676C>G	5.37:g.149677811G>C	ENSP00000333395:p.Gln226Glu		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Q226E	ENST00000328668.7	37	c.676	CCDS34275.1	5	.	.	.	.	.	.	.	.	.	.	G	1.162	-0.643611	0.03531	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.95949	-3.86;-3.86;-3.86	4.32	4.32	0.51571	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.627020	0.16495	N	0.211925	D	0.86142	0.5862	N	0.03608	-0.345	0.33555	D	0.596675	B	0.10296	0.003	B	0.19946	0.027	T	0.81035	-0.1115	10	0.06757	T	0.87	.	12.3548	0.55169	0.0:0.0:0.7883:0.2117	.	226	Q5FYB1	ARSI_HUMAN	E	226;83;83	ENSP00000333395:Q226E;ENSP00000426879:Q83E;ENSP00000420955:Q83E	ENSP00000333395:Q226E	Q	-	1	0	ARSI	149658004	0.995000	0.38212	0.873000	0.34254	0.940000	0.58332	3.911000	0.56378	2.401000	0.81631	0.561000	0.74099	CAG	ARSI	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSI	HGNC	protein_coding	OTTHUMT00000373681.1	G	NM_001012301		149677811	-1	no_errors	ENST00000328668	ensembl	human	known	70_37	missense	SNP	0.999	C	C	149677811	G	C	149677811	3	2	94	1	0	0	0	0	1	0	0	0	995	1299	45	1	1037	1	ARSI	5	149677811	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6134027	149677811	31237449	52	13437										
RGS14	10636	genome.wustl.edu	37	chr5	176797663	176797663	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctggaaaacaggatcaccttCgagtgagtgtcctgccccca	10	13	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr5:176797663C>G	ENST00000408923.3	+	10	1313	c.1125C>G	c.(1123-1125)ttC>ttG	p.F375L		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	375	Necessary for interaction with RABGEF1. {ECO:0000250}.|RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGATCACCTTCGAGTGAGTGT	0.632																																					NSCLC(47;353 1896 28036)												0													76	87	83					5																	176797663		2026	4170	6196	SO:0001583	missense	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1125C>G	5.37:g.176797663C>G	ENSP00000386229:p.Phe375Leu		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.F375L	ENST00000408923.3	37	c.1125	CCDS43405.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.06|15.06	2.720206|2.720206	0.48728|0.48728	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000408923;ENST00000336477|ENST00000511890	T|.	0.59502|.	0.26|.	4.52|4.52	0.337|0.337	0.15966|0.15966	Raf-like Ras-binding (2);|.	0.118223|.	0.64402|.	N|.	0.000020|.	T|T	0.59810|0.59810	0.2221|0.2221	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34147|.	0.097;0.075;0.438|.	B;B;B|.	0.38106|.	0.048;0.048;0.265|.	T|T	0.55528|0.55528	-0.8127|-0.8127	10|5	0.49607|.	T|.	0.09|.	-11.3976|-11.3976	3.6211|3.6211	0.08096|0.08096	0.0:0.2879:0.2076:0.5045|0.0:0.2879:0.2076:0.5045	.|.	146;223;375|.	B3KUX0;O43566-5;O43566|.	.;.;RGS14_HUMAN|.	L|W	375;156|246	ENSP00000386229:F375L|.	ENSP00000336864:F156L|.	F|S	+|+	3|2	2|0	RGS14|RGS14	176730269|176730269	0.994000|0.994000	0.37717|0.37717	0.997000|0.997000	0.53966|0.53966	0.748000|0.748000	0.42578|0.42578	0.257000|0.257000	0.18369|0.18369	0.158000|0.158000	0.19367|0.19367	-0.254000|-0.254000	0.11334|0.11334	TTC|TCG	RGS14	-	pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd		0.632	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	C	NM_006480		176797663	1	no_errors	ENST00000408923	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176797663	C	G	176797663	3	3	94	1	0	0	0	0	1	0	0	0	13327	883	31	1	1163	1	RGS14	5	176797663	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	27119852	176797663	4117597	53	13438										
RIOK1	83732	genome.wustl.edu	37	chr6	7414492	7414492	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tccctgcactcctagaaaatCaagtggaggaaaggacttgt	10	9	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:7414492C>G	ENST00000379834.2	+	16	1972	c.1465C>G	c.(1465-1467)Caa>Gaa	p.Q489E		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	489							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CCTAGAAAATCAAGTGGAGGA	0.418																																																	0													80	85	83					6																	7414492		2203	4300	6503	SO:0001583	missense	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1465C>G	6.37:g.7414492C>G	ENSP00000369162:p.Gln489Glu		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.Q489E	ENST00000379834.2	37	c.1465	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	C	0.391	-0.923477	0.02377	.	.	ENSG00000124784	ENST00000379834	T	0.04970	3.52	5.58	2.7	0.31948	.	0.843870	0.10924	N	0.619073	T	0.00875	0.0029	N	0.13299	0.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47086	-0.9144	10	0.02654	T	1	-6.615	9.2395	0.37486	0.144:0.6035:0.2525:0.0	.	489	Q9BRS2	RIOK1_HUMAN	E	489	ENSP00000369162:Q489E	ENSP00000369162:Q489E	Q	+	1	0	RIOK1	7359491	0.021000	0.18746	0.002000	0.10522	0.473000	0.32948	0.380000	0.20602	0.252000	0.21531	0.563000	0.77884	CAA	RIOK1	-	pirsf_Ser/Thr_kinase_Rio1		0.418	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	C	NM_031480		7414492	1	no_errors	ENST00000379834	ensembl	human	known	70_37	missense	SNP	0.006	G	G	7414492	C	G	7414492	3	3	94	1	0	0	0	0	1	0	0	0	13407	827	29	1	1527	1	RIOK1	6	7414492	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		7414492	163700575	54	13439										
MSH5	4439	genome.wustl.edu	37	chr6	31725965	31725965	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtgtacagtgccctgggcctGagggatgcctgccgctccct	14	14	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:31725965G>C	ENST00000375755.3	+	13	1324	c.1038G>C	c.(1036-1038)ctG>ctC	p.L346L	MSH5-SAPCD1_ENST00000493662.2_Silent_p.L363L|MSH5_ENST00000375703.3_Silent_p.L346L|MSH5_ENST00000431848.2_Silent_p.L45L|MSH5_ENST00000534153.4_Silent_p.L363L|MSH5_ENST00000395853.1_Silent_p.L20L|RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000375742.3_Silent_p.L363L|MSH5_ENST00000375740.3_Silent_p.L363L|MSH5_ENST00000375750.3_Silent_p.L346L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	346					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.L346L(1)|p.L363L(1)		breast(1)|ovary(2)|skin(2)	5						CCCTGGGCCTGAGGGATGCCT	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																																									2	Substitution - coding silent(2)	lung(2)											81	75	77					6																	31725965		1507	2708	4215	SO:0001819	synonymous_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1038G>C	6.37:g.31725965G>C			B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.L363	ENST00000375755.3	37	c.1089	CCDS4720.1	6																																																																																			MSH5	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	G			31725965	1	no_errors	ENST00000375742	ensembl	human	known	70_37	silent	SNP	0.993	C	C	31725965	G	C	31725965	2	2	94	1	0	0	0	0	0	0	0	1	9896	1277	45	1		1	MSH5	6	31725965	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	24311473	31725965	139389102	55	13440										
FAM83B	222584	genome.wustl.edu	37	chr6	54805040	54805040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aaagccatctgatagtctcaGtgtggcgtcctcatcacggg	11	11	4	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:54805040G>T	ENST00000306858.7	+	5	1387	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	424										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATAGTCTCAGTGTGGCGTCC	0.483																																																	0													71	74	73					6																	54805040		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1271G>T	6.37:g.54805040G>T	ENSP00000304078:p.Ser424Ile		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S424I	ENST00000306858.7	37	c.1271	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199516	0.58126	.	.	ENSG00000168143	ENST00000306858	T	0.11385	2.78	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	M	0.73598	2.24	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	T	0.01909	-1.1249	10	0.72032	D	0.01	-29.5647	19.8898	0.96926	0.0:0.0:1.0:0.0	.	424	Q5T0W9	FA83B_HUMAN	I	424	ENSP00000304078:S424I	ENSP00000304078:S424I	S	+	2	0	FAM83B	54912999	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	6.652000	0.74377	2.775000	0.95449	0.655000	0.94253	AGT	FAM83B	-	NULL		0.483	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	G	XM_294139		54805040	1	no_errors	ENST00000306858	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54805040	G	T	54805040	3	4	94	1	0	0	0	0	1	0	0	0	5652	1029	36	4	1285	4	FAM83B	6	54805040	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	23079075	54805040	116310027	56	13441										
COL19A1	1310	genome.wustl.edu	37	chr6	70851786	70851786	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtaattattttatttacaggGagaacctggggtaataggat	11	3	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:70851786G>C	ENST00000322773.4	+	21	1586	c.1484G>C	c.(1483-1485)gGa>gCa	p.G495A	COL19A1_ENST00000393344.1_Splice_Site_p.G117A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	495	Collagen-like 4.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G495E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATTTACAGGGAGAACCTGGG	0.308																																																	1	Substitution - Missense(1)	lung(1)											53	58	56					6																	70851786		2203	4300	6503	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1483-1G>C	6.37:g.70851786G>C			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G495A	ENST00000322773.4	37	c.1484	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653899	0.47362	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99329	-5.75;-5.75	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.99579	0.9848	H	0.96861	3.895	0.35725	D	0.81746	D	0.76494	0.999	D	0.71184	0.972	D	0.99410	1.0930	10	0.87932	D	0	.	12.0565	0.53538	0.0796:0.0:0.9204:0.0	.	495	Q14993	COJA1_HUMAN	A	495;117	ENSP00000316030:G495A;ENSP00000377013:G117A	ENSP00000316030:G495A	G	+	2	0	COL19A1	70908507	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.274000	0.58921	2.666000	0.90696	0.655000	0.94253	GGA	COL19A1	-	pfam_Collagen		0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G		Missense_Mutation	70851786	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70851786	G	C	70851786	5	2	94	1	0	0	0	0	0	0	1	0	3681	1188	41	1	1562	1	COL19A1	6	70851786	Splice_Site	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	16046746	70851786	100263281	57	13442										
TBX18	9096	genome.wustl.edu	37	chr6	85473690	85473690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggcgggagcgcagcgccttcGtctccctcagaagaaccctt	12	15	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TBX18_ENST00000606521.1_5'Flank|TBX18_ENST00000606784.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	70					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGCGCCTTCGTCTCCCTCAG	0.756																																																	0													4	5	5					6																	85473690		1979	3992	5971	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.210C>T	6.37:g.85473690G>A			A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D70	ENST00000369663.5	37	c.210	CCDS34495.1	6																																																																																			TBX18	-	NULL		0.756	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85473690	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	silent	SNP	0.217	A	A	85473690	G	A	85473690	2	1	94	1	0	0	0	0	0	0	0	1	15683	1136	40	2		2	TBX18	6	85473690	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	14621904	85473690	85641377	58	13443										
AKD1	221264	genome.wustl.edu	37	chr6	109837659	109837659	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tatttgtaaattatgtgtatCtgcttcaaatttttctccta	4	6	3	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:109837659C>G	ENST00000424296.2	-	30	3896	c.3820G>C	c.(3820-3822)Gat>Cat	p.D1274H		NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1274					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTATGTGTATCTGCTTCAAAT	0.338																																																	0													134	112	118					6																	109837659		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3820G>C	6.37:g.109837659C>G	ENSP00000410186:p.Asp1274His		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.D1274H	ENST00000424296.2	37	c.3820	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.628774|1.628774	0.28978|0.28978	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.67698|.	-0.28|.	4.99|4.99	4.99|4.99	0.66335|0.66335	ATPase, AAA+ type, core (1);|.	.|.	.|.	.|.	.|.	T|T	0.49474|0.49474	0.1559|0.1559	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	P|.	0.48030|.	0.564|.	T|T	0.46105|0.46105	-0.9215|-0.9215	8|5	.|.	.|.	.|.	.|.	17.9026|17.9026	0.88909|0.88909	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1274|.	Q5TCS8|.	AKD1_HUMAN|.	H|H	1274|111	ENSP00000410186:D1274H|.	.|.	D|Q	-|-	1|3	0|2	AKD1|AKD1	109944352|109944352	1.000000|1.000000	0.71417|0.71417	0.292000|0.292000	0.24919|0.24919	0.074000|0.074000	0.17049|0.17049	4.293000|4.293000	0.59037|0.59037	2.316000|2.316000	0.78162|0.78162	0.650000|0.650000	0.86243|0.86243	GAT|CAG	AKD1	-	smart_AAA+_ATPase		0.338	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109837659	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.989	G	G	109837659	C	G	109837659	3	3	94	1	0	0	0	0	1	0	0	0	460	913	32	1	1963	1	AKD1	6	109837659	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	24363969	109837659	61277408	59	13444										
HIVEP2	3097	genome.wustl.edu	37	chr6	143092438	143092438	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aggtgcagtggccccgagctCagcgggggacaaggacccgc	17	13	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:143092438C>A	ENST00000367604.1	-	4	4077	c.3438G>T	c.(3436-3438)ctG>ctT	p.L1146L	HIVEP2_ENST00000012134.2_Silent_p.L1146L|HIVEP2_ENST00000367603.2_Silent_p.L1146L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCCCGAGCTCAGCGGGGGAC	0.607																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													48	54	52					6																	143092438		2011	4187	6198	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3438G>T	6.37:g.143092438C>A			Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1146	ENST00000367604.1	37	c.3438	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.607	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143092438	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	0.067	A	A	143092438	C	A	143092438	2	1	94	1	0	0	0	0	0	0	0	1	7207	813	29	3		3	HIVEP2	6	143092438	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	33254779	143092438	28022629	60	13445										
LATS1	9113	genome.wustl.edu	37	chr6	150004568	150004568	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtagggtggtggtggtccttGatagtttggagcttcagcaa	16	5	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:150004568G>C	ENST00000543571.1	-	4	2204	c.1657C>G	c.(1657-1659)Caa>Gaa	p.Q553E	LATS1_ENST00000392273.3_Missense_Mutation_p.Q553E|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.Q553E	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGTGGTCCTTGATAGTTTGGA	0.488																																																	0													188	155	166					6																	150004568		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1657C>G	6.37:g.150004568G>C	ENSP00000437550:p.Gln553Glu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.Q553E	ENST00000543571.1	37	c.1657	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660941	0.67700	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.52295	0.67;0.67;3.26	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000030	T	0.59197	0.2176	L	0.55481	1.735	0.80722	D	1	P;D;P	0.67145	0.653;0.996;0.653	B;D;B	0.76071	0.297;0.987;0.366	T	0.52801	-0.8527	9	.	.	.	.	19.8134	0.96556	0.0:0.0:1.0:0.0	.	405;553;553	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	553	ENSP00000437550:Q553E;ENSP00000253339:Q553E;ENSP00000444678:Q553E	.	Q	-	1	0	LATS1	150046261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.174000	0.94824	2.767000	0.95098	0.655000	0.94253	CAA	LATS1	-	NULL		0.488	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150004568	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150004568	G	C	150004568	3	2	94	1	0	0	0	0	1	0	0	0	8666	1299	45	1	1755	1	LATS1	6	150004568	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6912130	150004568	21110499	61	13446										
LATS1	9113	genome.wustl.edu	37	chr6	150005605	150005605	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtcttcctacatctgtctgtGagttgggactctcagaatga	10	9	4	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr6:150005605G>C	ENST00000543571.1	-	4	1167	c.620C>G	c.(619-621)tCa>tGa	p.S207*	LATS1_ENST00000392273.3_Nonsense_Mutation_p.S207*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.S207*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATCTGTCTGTGAGTTGGGACT	0.502																																																	0													94	90	92					6																	150005605		2203	4300	6503	SO:0001587	stop_gained	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.620C>G	6.37:g.150005605G>C	ENSP00000437550:p.Ser207*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.S207*	ENST00000543571.1	37	c.620	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792840	0.90453	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	.	.	.	4.9	4.9	0.64082	.	0.143987	0.31949	N	0.006801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	.	.	.	X	207;207;207;153	.	.	S	-	2	0	LATS1	150047298	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	6.243000	0.72384	2.265000	0.75225	0.557000	0.71058	TCA	LATS1	-	NULL		0.502	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005605	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	150005605	G	C	150005605	4	2	94	1	0	0	0	0	0	1	0	0	8666	1294	45	1	2792	1	LATS1	6	150005605	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	1037	150005605	21109462	62	13447										
INTS1	26173	genome.wustl.edu	37	chr7	1542628	1542628	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gccaggcgccccagggcactCagagggggtgtggaggagag	20	10	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:1542628C>T	ENST00000404767.3	-	3	343	c.258G>A	c.(256-258)ctG>ctA	p.L86L	INTS1_ENST00000389470.4_Silent_p.L214L|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	86					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGGGCACTCAGAGGGGGTG	0.607																																																	0													73	86	82					7																	1542628		1964	4155	6119	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.258G>A	7.37:g.1542628C>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L214	ENST00000404767.3	37	c.642	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.607	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1542628	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1542628	C	T	1542628	2	4	94	1	0	0	0	0	0	0	0	1	7795	813	29	1		1	INTS1	7	1542628	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		1542628	157596035	63	13448										
HOXA4	3201	genome.wustl.edu	37	chr7	27169114	27169114	+	Silent	SNP	C	C	T													0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cgattgaagtggaactccttCtccagctccaagacctgctg							TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:27169114C>T	ENST00000360046.5	-	2	758	c.693G>A	c.(691-693)gaG>gaA	p.E231E	HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521687.1_RNA|HOXA4_ENST00000428284.2_Silent_p.E231E	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	231					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGAACTCCTTCTCCAGCTCCA	0.567																																																	0													101	96	98					7																	27169114		2203	4300	6503	SO:0001819	synonymous_variant	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.693G>A	7.37:g.27169114C>T			A4D180|O43366	Missense_Mutation	SNP	NULL	p.R31K	ENST00000360046.5	37	c.92	CCDS5405.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.781318|2.781318	0.49891|0.49891	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000511914|ENST00000548581	D|.	0.97575|.	-4.44|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.53938|.	D|.	0.000048|.	T|T	0.74981|0.74981	0.3788|0.3788	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73830|0.73830	-0.3859|-0.3859	7|4	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|K	51|31	ENSP00000448015:E51K|.	ENSP00000448015:E51K|.	E|R	-|-	1|2	0|0	HOXA4|HOXA4	27135639|27135639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.967000|5.967000	0.70403|0.70403	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GAA|AGA	HOXA4	-	NULL		0.567	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	C			27169114	-1	no_errors	ENST00000548581	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	27169114	C	T	27169114	2	4	94	1	0	0	0	0	0	0	0	1	7314	912	32	1		1	HOXA4	7	27169114	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	25626486	27169114	131969549	64	13449	72	2								
HOXA4	3201	genome.wustl.edu	37	chr7	27169123	27169123	+	Missense_Mutation	SNP	C	C	G													0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tggaactccttctccagctcCaagacctgctgccgggtgta							TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:27169123C>G	ENST00000360046.5	-	2	749	c.684G>C	c.(682-684)ttG>ttC	p.L228F	HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521687.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.L228F	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	228					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TCTCCAGCTCCAAGACCTGCT	0.572																																																	0													92	89	90					7																	27169123		2203	4300	6503	SO:0001583	missense	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.684G>C	7.37:g.27169123C>G	ENSP00000353151:p.Leu228Phe		A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.L228F	ENST00000360046.5	37	c.684	CCDS5405.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.70|10.70|10.70	1.424471|1.424471|1.424471	0.25639|0.25639|0.25639	.|.|.	.|.|.	ENSG00000197576|ENSG00000197576|ENSG00000197576	ENST00000511914|ENST00000360046;ENST00000428284|ENST00000548581	.|D;D|.	.|0.96265|.	.|-3.96;-3.96|.	5.29|5.29|5.29	5.29|5.29|5.29	0.74685|0.74685|0.74685	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	.|0.260141|.	.|0.22428|.	.|N|.	.|0.060197|.	T|T|T	0.63757|0.63757|0.63757	0.2538|0.2538|0.2538	L|L|L	0.49778|0.49778|0.49778	1.585|1.585|1.585	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.76494|.	.|0.999|.	.|D|.	.|0.81914|.	.|0.995|.	T|T|T	0.66594|0.66594|0.66594	-0.5884|-0.5884|-0.5884	5|10|6	.|0.87932|0.87932	.|D|D	.|0|0	.|.|.	12.3504|12.3504|12.3504	0.55144|0.55144|0.55144	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.|.	.|228|.	.|Q00056|.	.|HXA4_HUMAN|.	R|F|S	48|228|28	.|ENSP00000353151:L228F;ENSP00000408845:L228F|.	.|ENSP00000353151:L228F|ENSP00000447249:W28S	G|L|W	-|-|-	1|3|2	0|2|0	HOXA4|HOXA4|HOXA4	27135648|27135648|27135648	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.865000|1.865000|1.865000	0.39479|0.39479|0.39479	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GGA|TTG|TGG	HOXA4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	C			27169123	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27169123	C	G	27169123	3	3	94	1	0	0	0	0	1	0	0	0	7314	593	21	4	282	4	HOXA4	7	27169123	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	9	27169123	131969540	65	13450	72	2								
FKBP9	11328	genome.wustl.edu	37	chr7	33042416	33042416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccaacctctttgaagaaattGacaaggatggcaacggagaa	10	8	1	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:33042416G>C	ENST00000242209.4	+	9	1670	c.1501G>C	c.(1501-1503)Gac>Cac	p.D501H	FKBP9_ENST00000538443.1_Missense_Mutation_p.D363H|FKBP9_ENST00000490776.2_Missense_Mutation_p.D269H|RNU6-388P_ENST00000517012.1_RNA|FKBP9_ENST00000538336.1_Missense_Mutation_p.D554H|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	501	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGAAGAAATTGACAAGGATGG	0.537																																																	0													117	87	97					7																	33042416		2203	4300	6503	SO:0001583	missense	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1501G>C	7.37:g.33042416G>C	ENSP00000242209:p.Asp501His		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.D554H	ENST00000242209.4	37	c.1660	CCDS5439.1	7	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638149	0.87760	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.8	4.8	0.61643	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.87145	0.2205	10	0.87932	D	0	-1.0314	17.8793	0.88835	0.0:0.0:1.0:0.0	.	269;554;501	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	H	501;554;363;269	ENSP00000242209:D501H;ENSP00000439250:D554H;ENSP00000437504:D363H;ENSP00000441317:D269H	ENSP00000242209:D501H	D	+	1	0	FKBP9	33008941	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	9.864000	0.99589	2.228000	0.72767	0.555000	0.69702	GAC	FKBP9	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.537	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	HGNC	protein_coding	OTTHUMT00000215137.1	G	NM_007270		33042416	1	no_errors	ENST00000538336	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33042416	G	C	33042416	3	2	94	1	0	0	0	0	1	0	0	0	5933	1290	45	1	1535	1	FKBP9	7	33042416	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	5873293	33042416	126096247	66	13451										
SRPK2	6733	genome.wustl.edu	37	chr7	104844135	104844135	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgatcccaggatctcctcctCtggctccgggggtgtggggt	15	12	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:104844135C>G	ENST00000393651.3	-	3	256	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	SRPK2_ENST00000357311.3_Missense_Mutation_p.E46Q|SRPK2_ENST00000489828.1_Missense_Mutation_p.E46Q	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATCTCCTCCTCTGGCTCCGGG	0.617																																																	0													93	79	84					7																	104844135		2203	4300	6503	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.169G>C	7.37:g.104844135C>G	ENSP00000377262:p.Glu57Gln			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.E57Q	ENST00000393651.3	37	c.169	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478683	0.63849	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.32515	1.45;1.46;1.46;3.3;2.86	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.71674	0.998;0.981	D;D	0.80764	0.994;0.954	T	0.10660	-1.0620	10	0.34782	T	0.22	-22.4378	18.3674	0.90396	0.0:1.0:0.0:0.0	.	57;46	P78362-2;P78362	.;SRPK2_HUMAN	Q	57;46;46;94;46	ENSP00000377262:E57Q;ENSP00000349863:E46Q;ENSP00000419791:E46Q;ENSP00000419240:E94Q;ENSP00000417357:E46Q	ENSP00000349863:E46Q	E	-	1	0	SRPK2	104631371	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.147000	0.77382	2.873000	0.98535	0.561000	0.74099	GAG	SRPK2	-	NULL		0.617	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		104844135	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104844135	C	G	104844135	3	3	94	1	0	0	0	0	1	0	0	0	15190	922	32	1	1986	1	SRPK2	7	104844135	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	71801719	104844135	54294528	67	13452										
BCAP29	55973	genome.wustl.edu	37	chr7	107254114	107254114	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tacagcattccagttttggtGaatttttaagcaaaagaagc	8	6	0	2	rs576177767	byFrequency	TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:107254114G>A	ENST00000005259.4	+	7	1029				BCAP29_ENST00000379119.2_Missense_Mutation_p.E236K|BCAP29_ENST00000465919.1_Intron|BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379121.2_Intron|BCAP29_ENST00000445771.2_Missense_Mutation_p.E236K|BCAP29_ENST00000379117.2_Intron	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CAGTTTTGGTGAATTTTTAAG	0.358																																																	0													78	81	80					7																	107254114		2196	4300	6496	SO:0001627	intron_variant	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.690+237G>A	7.37:g.107254114G>A			G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.E236K	ENST00000005259.4	37	c.706	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973509	0.18736	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	4.07	-0.337	0.12654	.	.	.	.	.	T	0.15262	0.0368	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.19160	-1.0314	8	0.39692	T	0.17	-4.9482	2.6062	0.04878	0.385:0.0:0.4004:0.2146	.	236	G5E9L4	.	K	236	.	ENSP00000368414:E236K	E	+	1	0	BCAP29	107041350	0.008000	0.16893	0.003000	0.11579	0.065000	0.16274	0.316000	0.19469	0.036000	0.15547	0.650000	0.86243	GAA	BCAP29	-	NULL		0.358	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	G	NM_018844		107254114	1	no_errors	ENST00000379119	ensembl	human	known	70_37	missense	SNP	0.002	A	A	107254114	G	A	107254114	1	1	94	0	1	0	0	0	0	0	0	0	1347	1291	45	1		1	BCAP29	7	107254114	Intron	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	2409979	107254114	51884549	68	13453										
ASZ1	136991	genome.wustl.edu	37	chr7	117067509	117067509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aggcctcgcagcgcgctcgcCgccatgccagccaaggaagc	13	17	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:117067509C>T	ENST00000284629.2	-	1	68	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GCGCGCTCGCCGCCATGCCAG	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													43	42	42					7																	117067509		2202	4296	6498	SO:0001819	synonymous_variant	136991			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.6G>A	7.37:g.117067509C>T		1478		Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A2	ENST00000284629.2	37	c.6	CCDS5772.1	7																																																																																			ASZ1	-	NULL		0.692	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASZ1	HGNC	protein_coding	OTTHUMT00000138907.7	C	NM_130768		117067509	-1	no_errors	ENST00000284629	ensembl	human	known	70_37	silent	SNP	0.958	T	T	117067509	C	T	117067509	2	4	94	1	0	0	0	0	0	0	0	1	1070	639	23	2		2	ASZ1	7	117067509	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	9813395	117067509	42071154	69	13454										
GPR37	2861	genome.wustl.edu	37	chr7	124386638	124386638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acggcgtatggtactgaaagGcgagagttcgagttccgtgg	16	7	0	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:124386638G>T	ENST00000303921.2	-	2	2433	c.1783C>A	c.(1783-1785)Cct>Act	p.P595T		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	595					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTACTGAAAGGCGAGAGTTCG	0.463																																																	0													186	161	170					7																	124386638		2203	4300	6503	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1783C>A	7.37:g.124386638G>T	ENSP00000306449:p.Pro595Thr		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn	p.P595T	ENST00000303921.2	37	c.1783	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076368	0.36662	.	.	ENSG00000170775	ENST00000303921	T	0.70869	-0.52	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000023	T	0.61337	0.2339	L	0.29908	0.895	0.80722	D	1	P	0.41597	0.756	B	0.38842	0.283	T	0.62053	-0.6935	10	0.33940	T	0.23	-19.7394	18.0541	0.89358	0.0:0.0:1.0:0.0	.	595	O15354	GPR37_HUMAN	T	595	ENSP00000306449:P595T	ENSP00000306449:P595T	P	-	1	0	GPR37	124173874	1.000000	0.71417	0.657000	0.29651	0.545000	0.35147	9.230000	0.95299	2.489000	0.83994	0.655000	0.94253	CCT	GPR37	-	NULL		0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	G	NM_005302		124386638	-1	no_errors	ENST00000303921	ensembl	human	known	70_37	missense	SNP	0.999	T	T	124386638	G	T	124386638	3	4	94	1	0	0	0	0	1	0	0	0	6710	1203	42	4	62	4	GPR37	7	124386638	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	7319129	124386638	34752025	70	13455										
PAX4	5078	genome.wustl.edu	37	chr7	127255468	127255468	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccattaccttaaggatccgtGagatgtcacagggccgcatt	10	11	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:127255468G>C	ENST00000341640.2	-	1	312	c.107C>G	c.(106-108)tCa>tGa	p.S36*	PAX4_ENST00000378740.2_Nonsense_Mutation_p.S36*|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000338516.3_Nonsense_Mutation_p.S44*	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	44	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AAGGATCCGTGAGATGTCACA	0.597																																					Ovarian(113;737 1605 7858 27720 34092)												0													91	91	91					7																	127255468		2203	4300	6503	SO:0001587	stop_gained	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.107C>G	7.37:g.127255468G>C	ENSP00000339906:p.Ser36*		O95161|Q6B0H0	Nonsense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.S36*	ENST00000341640.2	37	c.107	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.884658	0.97062	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	.	.	.	X	36;44;44	.	ENSP00000344297:S44X	S	-	2	0	PAX4	127042704	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	9.559000	0.98135	2.693000	0.91896	0.655000	0.94253	TCA	PAX4	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom		0.597	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	G			127255468	-1	no_errors	ENST00000341640	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	127255468	G	C	127255468	4	2	94	1	0	0	0	0	0	1	0	0	11505	1294	45	1	960	1	PAX4	7	127255468	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	2868830	127255468	31883195	71	13456										
FLNC	2318	genome.wustl.edu	37	chr7	128486140	128486140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggctcgtgtgctcaacccctCgggggccaagacagacacct	12	15	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:128486140C>T	ENST00000325888.8	+	22	4148	c.3887C>T	c.(3886-3888)tCg>tTg	p.S1296L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1296L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1296					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTCAACCCCTCGGGGGCCAAG	0.627																																																	0													44	49	47					7																	128486140		2038	4176	6214	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3887C>T	7.37:g.128486140C>T	ENSP00000327145:p.Ser1296Leu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S1296L	ENST00000325888.8	37	c.3887	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.633050	0.96682	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.93076	-3.16;-3.16	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98278	1.0507	10	0.87932	D	0	.	18.4511	0.90704	0.0:1.0:0.0:0.0	.	1296;1296	Q14315-2;Q14315	.;FLNC_HUMAN	L	1296	ENSP00000327145:S1296L;ENSP00000344002:S1296L	ENSP00000327145:S1296L	S	+	2	0	FLNC	128273376	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	7.788000	0.85771	2.360000	0.80028	0.555000	0.69702	TCG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128486140	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128486140	C	T	128486140	3	4	94	1	0	0	0	0	1	0	0	0	5953	893	31	1	3973	1	FLNC	7	128486140	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1230672	128486140	30652523	72	13457										
TSGA13	114960	genome.wustl.edu	37	chr7	130356546	130356546	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gactggagcaaaggtgagctGagggtacattttcttctgtg	14	6	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr7:130356546G>C	ENST00000456951.1	-	8	1464	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	TSGA13_ENST00000356588.3_Missense_Mutation_p.Q205E|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	205										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AAGGTGAGCTGAGGGTACATT	0.428																																																	0													225	213	217					7																	130356546		2203	4300	6503	SO:0001583	missense	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.613C>G	7.37:g.130356546G>C	ENSP00000406047:p.Gln205Glu		B3KSC9	Missense_Mutation	SNP	NULL	p.Q205E	ENST00000456951.1	37	c.613	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550641	0.27739	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.57	3.59	0.41128	.	0.420416	0.20317	N	0.094720	T	0.19046	0.0457	N	0.19112	0.55	0.21822	N	0.999525	B	0.33318	0.408	B	0.28784	0.094	T	0.12993	-1.0526	9	0.15499	T	0.54	-2.5403	9.2646	0.37634	0.0:0.1619:0.6815:0.1566	.	205	Q96PP4	TSG13_HUMAN	E	205	.	ENSP00000348996:Q205E	Q	-	1	0	TSGA13	130007086	0.992000	0.36948	1.000000	0.80357	0.840000	0.47671	0.585000	0.23879	1.284000	0.44531	0.555000	0.69702	CAG	TSGA13	-	NULL		0.428	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	G	NM_052933		130356546	-1	no_errors	ENST00000356588	ensembl	human	known	70_37	missense	SNP	0.994	C	C	130356546	G	C	130356546	3	2	94	1	0	0	0	0	1	0	0	0	16650	1299	45	1	222	1	TSGA13	7	130356546	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	1870406	130356546	28782117	73	13458										
DLC1	10395	genome.wustl.edu	37	chr8	12950310	12950310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgatggcagccttgatggccTgcaggcgctggtccttgggc	16	11	0	2	rs146051142	byFrequency	TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:12950310T>C	ENST00000276297.4	-	13	3960	c.3551A>G	c.(3550-3552)cAg>cGg	p.Q1184R	DLC1_ENST00000512044.2_Missense_Mutation_p.Q781R|DLC1_ENST00000520226.1_Missense_Mutation_p.Q673R|DLC1_ENST00000358919.2_Missense_Mutation_p.Q747R|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1184	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTGATGGCCTGCAGGCGCTG	0.532																																																	0													48	42	44					8																	12950310		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3551A>G	8.37:g.12950310T>C	ENSP00000276297:p.Gln1184Arg		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q1184R	ENST00000276297.4	37	c.3551	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876006	0.72180	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.08	1.27	0.21489	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.170560	0.53938	D	0.000060	T	0.24353	0.0590	L	0.31752	0.955	0.80722	D	1	B;D;B	0.76494	0.047;0.999;0.378	B;D;P	0.87578	0.08;0.998;0.529	T	0.01053	-1.1467	10	0.54805	T	0.06	.	7.9886	0.30226	0.0:0.0671:0.2566:0.6763	.	1184;781;747	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	1184;747;123;781;673	ENSP00000276297:Q1184R;ENSP00000351797:Q747R;ENSP00000422595:Q781R;ENSP00000428028:Q673R	ENSP00000276297:Q1184R	Q	-	2	0	DLC1	12994681	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.986000	0.63851	0.135000	0.18707	0.533000	0.62120	CAG	DLC1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.532	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	T	NM_182643, NM_006094		12950310	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12950310	T	C	12950310	3	2	94	1	0	0	0	0	1	0	0	0	4560	1580	55	5	1059	5	DLC1	8	12950310	Missense_Mutation	SNP	T	TCGA-EK-A2H0-01A-11D-A17W-09		12950310	133413712	74	13459										
XPO7	23039	genome.wustl.edu	37	chr8	21837640	21837640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cttcagtcagaagatccctgTttaacaatgcagagagggcc	10	10	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:21837640T>C	ENST00000252512.9	+	9	983	c.883T>C	c.(883-885)Ttt>Ctt	p.F295L	XPO7_ENST00000434536.1_Missense_Mutation_p.F304L|XPO7_ENST00000433566.4_Missense_Mutation_p.F296L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	295				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AAGATCCCTGTTTAACAATGC	0.393																																																	0													123	115	117					8																	21837640		1909	4119	6028	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.883T>C	8.37:g.21837640T>C	ENSP00000252512:p.Phe295Leu		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F304L	ENST00000252512.9	37	c.910	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	T	34	5.305795	0.95629	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.43688	0.94;0.94;0.94	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	M	0.93939	3.475	0.80722	D	1	D;D;D	0.65815	0.995;0.989;0.989	P;P;P	0.60886	0.88;0.88;0.88	T	0.78355	-0.2236	10	0.52906	T	0.07	-13.8637	15.4138	0.74948	0.0:0.0:0.0:1.0	.	296;304;295	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	L	304;295;296	ENSP00000404853:F304L;ENSP00000252512:F295L;ENSP00000410249:F296L	ENSP00000252512:F295L	F	+	1	0	XPO7	21893586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.120000	0.65058	0.533000	0.62120	TTT	XPO7	-	superfamily_ARM-type_fold		0.393	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	T	NM_015024		21837640	1	no_errors	ENST00000434536	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21837640	T	C	21837640	3	2	94	1	0	0	0	0	1	0	0	0	17480	1725	60	5	969	5	XPO7	8	21837640	Missense_Mutation	SNP	T	TCGA-EK-A2H0-01A-11D-A17W-09	8887330	21837640	124526382	75	13460										
AZIN1	51582	genome.wustl.edu	37	chr8	103845404	103845404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tatcttaacaccagatccttCaggaaagtagatatccaaca	5	10	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:103845404C>T	ENST00000337198.5	-	9	1947	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	AZIN1_ENST00000347770.4_Missense_Mutation_p.E262K	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	262					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CCAGATCCTTCAGGAAAGTAG	0.348																																																	0													82	87	85					8																	103845404		2203	4300	6503	SO:0001583	missense	51582			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.784G>A	8.37:g.103845404C>T	ENSP00000337180:p.Glu262Lys		A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.E262K	ENST00000337198.5	37	c.784	CCDS6295.1	8	.	.	.	.	.	.	.	.	.	.	C	7.002	0.554989	0.13436	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.41400	1.0;1.0	6.06	5.18	0.71444	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (1);	0.317702	0.39341	N	0.001397	T	0.29850	0.0746	L	0.28115	0.83	0.35769	D	0.820729	B	0.14438	0.01	B	0.23852	0.049	T	0.30534	-0.9975	10	0.22109	T	0.4	-18.1052	10.5555	0.45114	0.1347:0.7926:0.0:0.0727	.	262	O14977	AZIN1_HUMAN	K	262	ENSP00000337180:E262K;ENSP00000321507:E262K	ENSP00000337180:E262K	E	-	1	0	AZIN1	103914580	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	1.078000	0.30754	1.564000	0.49628	-0.169000	0.13324	GAA	AZIN1	-	pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C		0.348	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	C			103845404	-1	no_errors	ENST00000337198	ensembl	human	known	70_37	missense	SNP	0.999	T	T	103845404	C	T	103845404	3	4	94	1	0	0	0	0	1	0	0	0	1243	835	29	1	578	1	AZIN1	8	103845404	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	82007764	103845404	42518618	76	13461										
FZD6	8323	genome.wustl.edu	37	chr8	104337017	104337017	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aattgatgttagaagattcaGatacccagagagaccaatta	8	6	1	6			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:104337017G>C	ENST00000358755.4	+	4	1000	c.683G>C	c.(682-684)aGa>aCa	p.R228T	FZD6_ENST00000522566.1_Missense_Mutation_p.R228T|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.R196T	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	228					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGAAGATTCAGATACCCAGAG	0.338																																																	0													52	52	52					8																	104337017		2203	4300	6503	SO:0001583	missense	8323			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.683G>C	8.37:g.104337017G>C	ENSP00000351605:p.Arg228Thr		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R228T	ENST00000358755.4	37	c.683	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276304	0.80580	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.83673	-1.75;-1.75;-1.75	5.6	5.6	0.85130	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.93073	0.6484	10	0.87932	D	0	.	19.6086	0.95589	0.0:0.0:1.0:0.0	.	173;228;228	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	T	228;228;196;173	ENSP00000429055:R228T;ENSP00000351605:R228T;ENSP00000429528:R196T	ENSP00000351605:R228T	R	+	2	0	FZD6	104406193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.640000	0.89533	0.491000	0.48974	AGA	FZD6	-	pfam_Frizzled,pfscan_GPCR_2-like		0.338	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	G	NM_003506		104337017	1	no_errors	ENST00000358755	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104337017	G	C	104337017	3	2	94	1	0	0	0	0	1	0	0	0	6152	942	33	1	693	1	FZD6	8	104337017	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	491613	104337017	42027005	77	13462										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110450559	110450559	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcctcttattttagaaaactGagggtacagttgatatttca	7	6	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:110450559G>A	ENST00000378402.5	+	31	3738	c.3634G>A	c.(3634-3636)Gag>Aag	p.E1212K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1212	IPT/TIG 5.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAGAAAACTGAGGGTACAGT	0.294										HNSCC(38;0.096)																																							0													19	18	18					8																	110450559		1770	3960	5730	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3634G>A	8.37:g.110450559G>A	ENSP00000367655:p.Glu1212Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.E1212K	ENST00000378402.5	37	c.3634	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578562	0.86645	.	.	ENSG00000205038	ENST00000378402	T	0.76968	-1.06	5.88	5.88	0.94601	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.068538	0.56097	D	0.000030	D	0.86904	0.6045	M	0.85041	2.73	0.32223	N	0.575003	D	0.55172	0.97	P	0.60286	0.872	D	0.85450	0.1160	10	0.13108	T	0.6	.	17.7101	0.88319	0.0:0.0:1.0:0.0	.	1212	Q86WI1	PKHL1_HUMAN	K	1212	ENSP00000367655:E1212K	ENSP00000367655:E1212K	E	+	1	0	PKHD1L1	110519735	1.000000	0.71417	0.993000	0.49108	0.838000	0.47535	3.186000	0.50942	2.784000	0.95788	0.655000	0.94253	GAG	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110450559	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.997	A	A	110450559	G	A	110450559	3	1	94	1	0	0	0	0	1	0	0	0	11996	1291	45	1	3756	1	PKHD1L1	8	110450559	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6113542	110450559	35913463	78	13463										
GPR20	2843	genome.wustl.edu	37	chr8	142367933	142367933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	caggtggaacaggggcacctCcagcccgctggcattggtcc	14	14	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:142367933C>T	ENST00000377741.3	-	2	181	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGGGGCACCTCCAGCCCGCTG	0.682																																																	0													45	44	45					8																	142367933		2203	4300	6503	SO:0001583	missense	2843			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.91G>A	8.37:g.142367933C>T	ENSP00000366970:p.Glu31Lys		Q17R96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E31K	ENST00000377741.3	37	c.91	CCDS34949.1	8	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882514	0.33255	.	.	ENSG00000204882	ENST00000377741	T	0.60797	0.16	3.68	3.68	0.42216	.	0.572132	0.15765	N	0.245738	T	0.39118	0.1066	L	0.27053	0.805	0.36044	D	0.840314	B	0.30482	0.281	B	0.24974	0.057	T	0.37126	-0.9719	10	0.07175	T	0.84	-8.6862	13.2571	0.60085	0.0:1.0:0.0:0.0	.	31	Q99678	GPR20_HUMAN	K	31	ENSP00000366970:E31K	ENSP00000366970:E31K	E	-	1	0	GPR20	142437115	0.120000	0.22244	0.034000	0.17996	0.087000	0.18053	2.836000	0.48183	1.766000	0.52107	0.561000	0.74099	GAG	GPR20	-	NULL		0.682	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	C	NM_005293		142367933	-1	no_errors	ENST00000377741	ensembl	human	known	70_37	missense	SNP	0.809	T	T	142367933	C	T	142367933	3	4	94	1	0	0	0	0	1	0	0	0	6699	864	30	1	989	1	GPR20	8	142367933	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	31917374	142367933	3996089	79	13464										
PLEC	5339	genome.wustl.edu	37	chr8	145002027	145002027	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gcctcgaaacgataccttcaGagaggccttggtggcctcga	12	12	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr8:145002027G>C	ENST00000322810.4	-	26	3974	c.3805C>G	c.(3805-3807)Ctg>Gtg	p.L1269V	PLEC_ENST00000398774.2_Missense_Mutation_p.L1100V|PLEC_ENST00000436759.2_Missense_Mutation_p.L1159V|PLEC_ENST00000354958.2_Missense_Mutation_p.L1110V|PLEC_ENST00000356346.3_Missense_Mutation_p.L1118V|PLEC_ENST00000354589.3_Missense_Mutation_p.L1132V|PLEC_ENST00000345136.3_Missense_Mutation_p.L1132V|PLEC_ENST00000527096.1_Missense_Mutation_p.L1155V|PLEC_ENST00000357649.2_Missense_Mutation_p.L1136V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1269	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATACCTTCAGAGAGGCCTTG	0.687																																																	0													14	19	17					8																	145002027		1913	4116	6029	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3805C>G	8.37:g.145002027G>C	ENSP00000323856:p.Leu1269Val		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L1269V	ENST00000322810.4	37	c.3805	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936130	0.18206	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.44	3.28	0.37604	.	0.108809	0.37304	U	0.002150	T	0.37571	0.1008	M	0.69523	2.12	0.47547	D	0.99945	B;B;B;B;B;B;B;B	0.33694	0.167;0.167;0.167;0.104;0.167;0.167;0.421;0.167	B;B;B;B;B;B;B;B	0.33750	0.169;0.169;0.169;0.081;0.169;0.169;0.169;0.169	T	0.42682	-0.9437	10	0.87932	D	0	.	11.0735	0.48016	0.0793:0.0:0.7894:0.1313	.	1159;1118;1110;1269;1100;1132;1136;1132	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	1132;1136;1132;1100;1269;1110;1118;1159;1155	ENSP00000344848:L1132V;ENSP00000350277:L1136V;ENSP00000346602:L1132V;ENSP00000381756:L1100V;ENSP00000323856:L1269V;ENSP00000347044:L1110V;ENSP00000348702:L1118V;ENSP00000388180:L1159V;ENSP00000434583:L1155V	ENSP00000323856:L1269V	L	-	1	2	PLEC	145074015	0.993000	0.37304	0.361000	0.25849	0.467000	0.32768	2.085000	0.41634	1.261000	0.44149	0.637000	0.83480	CTG	PLEC	-	smart_Spectrin/alpha-actinin		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145002027	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.951	C	C	145002027	G	C	145002027	3	2	94	1	0	0	0	0	1	0	0	0	12076	933	33	1	10277	1	PLEC	8	145002027	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	2634094	145002027	1361995	80	13465										
KDM4C	23081	genome.wustl.edu	37	chr9	7103735	7103735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agggtctctggagcctgcatCcagtgttcctacggtcgctg	13	12	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:7103735C>T	ENST00000381309.3	+	18	3040	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	KDM4C_ENST00000442236.2_Silent_p.I570I|KDM4C_ENST00000381306.3_Silent_p.I825I|KDM4C_ENST00000536108.1_Missense_Mutation_p.S608F|KDM4C_ENST00000428870.2_Silent_p.I512I	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	825					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GAGCCTGCATCCAGTGTTCCT	0.517																																																	0													114	106	109					9																	7103735		2203	4300	6503	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2475C>T	9.37:g.7103735C>T			B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,pfscan_JmjC_dom	p.S608F	ENST00000381309.3	37	c.1823	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939308	0.52972	.	.	ENSG00000107077	ENST00000536108	T	0.19250	2.16	5.55	4.65	0.58169	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04607	-1.0939	6	0.62326	D	0.03	-38.8081	12.2137	0.54394	0.0:0.8647:0.0:0.1353	.	.	.	.	F	608	ENSP00000440656:S608F	ENSP00000440656:S608F	S	+	2	0	KDM4C	7093735	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	0.109000	0.15417	2.596000	0.87737	0.655000	0.94253	TCC	KDM4C	-	NULL		0.517	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		7103735	1	no_errors	ENST00000536108	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7103735	C	T	7103735	2	4	94	1	0	0	0	0	0	0	0	1	8150	845	30	1		1	KDM4C	9	7103735	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		7103735	134109696	81	13466										
TYRP1	7306	genome.wustl.edu	37	chr9	12694281	12694281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtctggcccttgcgcttcttCaataggacatgtcactgcaa	9	12	4	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:12694281C>T	ENST00000388918.5	+	2	414	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	95					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGCGCTTCTTCAATAGGACAT	0.587									Oculocutaneous Albinism																																								0													47	42	44					9																	12694281		2203	4300	6503	SO:0001819	synonymous_variant	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.285C>T	9.37:g.12694281C>T			P78468|P78469|Q13721|Q15679	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.F95	ENST00000388918.5	37	c.285	CCDS34990.1	9																																																																																			TYRP1	-	superfamily_Unchr_di-copper_centre		0.587	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	C	NM_000550		12694281	1	no_errors	ENST00000388918	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12694281	C	T	12694281	2	4	94	1	0	0	0	0	0	0	0	1	16847	825	29	1		1	TYRP1	9	12694281	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	5590546	12694281	128519150	82	13467										
PSIP1	11168	genome.wustl.edu	37	chr9	15486008	15486008	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aagtcagtgaaattacctttCtctttctcccccttctggca	5	13	4	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:15486008C>T	ENST00000380733.4	-	6	795	c.452G>A	c.(451-453)aGa>aAa	p.R151K	PSIP1_ENST00000380716.4_Missense_Mutation_p.R151K|PSIP1_ENST00000380715.1_Missense_Mutation_p.R151K|PSIP1_ENST00000397519.2_Missense_Mutation_p.R151K|PSIP1_ENST00000380738.4_Missense_Mutation_p.R151K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	151					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AATTACCTTTCTCTTTCTCCC	0.338																																																	0													143	147	146					9																	15486008		2203	4300	6503	SO:0001583	missense	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.452G>A	9.37:g.15486008C>T	ENSP00000370109:p.Arg151Lys		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS	p.R151K	ENST00000380733.4	37	c.452	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629912	0.87660	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.44482	0.98;0.98;0.92;0.92;0.92	5.18	5.18	0.71444	.	0.094242	0.64402	D	0.000001	T	0.59128	0.2171	L	0.54323	1.7	0.46113	D	0.998875	D;P;P	0.56035	0.974;0.956;0.956	D;P;D	0.67725	0.953;0.899;0.931	T	0.50558	-0.8814	10	0.23891	T	0.37	.	19.0507	0.93043	0.0:1.0:0.0:0.0	.	151;151;151	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	K	151	ENSP00000370109:R151K;ENSP00000370114:R151K;ENSP00000370091:R151K;ENSP00000370092:R151K;ENSP00000380653:R151K	ENSP00000370091:R151K	R	-	2	0	PSIP1	15476008	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.871000	0.63042	2.584000	0.87258	0.561000	0.74099	AGA	PSIP1	-	NULL		0.338	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	C	NM_033222		15486008	-1	no_errors	ENST00000380733	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15486008	C	T	15486008	3	4	94	1	0	0	0	0	1	0	0	0	12690	913	32	1	1213	1	PSIP1	9	15486008	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	2791727	15486008	125727423	83	13468										
SLC24A2	25769	genome.wustl.edu	37	chr9	19786763	19786763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cctaagactcgaattaacttCagttttttcttgacactata	4	9	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:19786763C>T	ENST00000341998.2	-	1	163	c.102G>A	c.(100-102)ctG>ctA	p.L34L	SLC24A2_ENST00000286344.3_Silent_p.L34L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	34					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAATTAACTTCAGTTTTTTCT	0.433																																																	0													145	147	146					9																	19786763		2203	4300	6503	SO:0001819	synonymous_variant	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.102G>A	9.37:g.19786763C>T			B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.L34	ENST00000341998.2	37	c.102	CCDS6493.1	9																																																																																			SLC24A2	-	NULL		0.433	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	C	NM_020344		19786763	-1	no_errors	ENST00000341998	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19786763	C	T	19786763	2	4	94	1	0	0	0	0	0	0	0	1	14496	813	29	1		1	SLC24A2	9	19786763	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	4300755	19786763	121426668	84	13469										
CD72	971	genome.wustl.edu	37	chr9	35612927	35612927	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggctctcctgccaattttttGaagtaagtgagatgtaaaag	10	6	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:35612927G>C	ENST00000396757.1	-	7	916	c.752C>G	c.(751-753)tCa>tGa	p.S251*	CD72_ENST00000259633.4_Nonsense_Mutation_p.S251*|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	251	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATTTTTTGAAGTAAGTGA	0.413																																																	0													213	193	200					9																	35612927		2203	4300	6503	SO:0001587	stop_gained	971				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.752C>G	9.37:g.35612927G>C	ENSP00000379980:p.Ser251*			Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S251*	ENST00000396757.1	37	c.752	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909694	0.33721	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	5.54	-11.1	0.00147	.	3.654690	0.00887	N	0.002198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	2.149	6.2671	0.20932	0.079:0.4144:0.317:0.1896	.	.	.	.	X	251	.	ENSP00000259633:S251X	S	-	2	0	CD72	35602927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.590000	0.00899	-3.194000	0.00219	-1.360000	0.01215	TCA	CD72	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.413	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	G	NM_001782		35612927	-1	no_errors	ENST00000259633	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	35612927	G	C	35612927	4	2	94	1	0	0	0	0	0	1	0	0	3039	1294	45	1	339	1	CD72	9	35612927	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	15826164	35612927	105600504	85	13470										
RMI1	80010	genome.wustl.edu	37	chr9	86617752	86617752	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gttaatatggaacaccttgaGaatctaaagaagcggttaaa	9	5	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:86617752G>A	ENST00000325875.3	+	3	2183	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	617					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.E617D(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AACACCTTGAGAATCTAAAGA	0.269																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											58	54	55					9																	86617752		2203	4300	6503	SO:0001819	synonymous_variant	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1851G>A	9.37:g.86617752G>A			Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	pfam_DUF1767	p.E617	ENST00000325875.3	37	c.1851	CCDS6669.1	9																																																																																			RMI1	-	NULL		0.269	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	G	NM_024945		86617752	1	no_errors	ENST00000325875	ensembl	human	known	70_37	silent	SNP	0.816	A	A	86617752	G	A	86617752	2	1	94	1	0	0	0	0	0	0	0	1	13425	933	33	1		1	RMI1	9	86617752	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	51004825	86617752	54595679	86	13471										
NOL8	55035	genome.wustl.edu	37	chr9	95078028	95078028	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcatcagaaatgctgtttctCttcttggcagtttccaagcc	7	11	4	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:95078028C>G	ENST00000535387.1	-	6	878	c.879G>C	c.(877-879)aaG>aaC	p.K293N	NOL8_ENST00000545558.1_Missense_Mutation_p.K293N|NOL8_ENST00000358855.4_Missense_Mutation_p.K225N|NOL8_ENST00000442668.2_Missense_Mutation_p.K293N|NOL8_ENST00000542053.1_Missense_Mutation_p.K225N					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGCTGTTTCTCTTCTTGGCAG	0.358																																																	0													44	40	41					9																	95078028		1844	4099	5943	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.879G>C	9.37:g.95078028C>G	ENSP00000441300:p.Lys293Asn			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K293N	ENST00000535387.1	37	c.879	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848564	0.00563	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.53;2.53;2.53;2.76;2.53;2.26;0.92	5.57	-7.75	0.01236	.	0.996520	0.08139	N	0.991920	T	0.13798	0.0334	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25117	-1.0141	10	0.09843	T	0.71	0.0038	1.2286	0.01938	0.3537:0.3115:0.1059:0.229	.	293	Q76FK4	NOL8_HUMAN	N	293;295;225;293;293;225;293;293	ENSP00000401177:K293N;ENSP00000351723:K225N;ENSP00000441140:K293N;ENSP00000441300:K293N;ENSP00000440709:K225N;ENSP00000414112:K293N;ENSP00000412471:K293N	ENSP00000351723:K225N	K	-	3	2	NOL8	94117849	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.826000	0.04429	-1.541000	0.01727	-0.188000	0.12872	AAG	NOL8	-	NULL		0.358	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	C	NM_017948		95078028	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.000	G	G	95078028	C	G	95078028	3	3	94	1	0	0	0	0	1	0	0	0	10551	912	32	1	2668	1	NOL8	9	95078028	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	8460276	95078028	46135403	87	13472										
C9orf102	375748	genome.wustl.edu	37	chr9	98669408	98669408	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcctctacaactggaaggatGaattggacacctggggatat	11	8	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:98669408G>T	ENST00000288985.7	+	4	981	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	RNA5SP289_ENST00000362332.1_RNA|ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Nonsense_Mutation_p.E37*	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	226	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CTGGAAGGATGAATTGGACAC	0.323																																																	0													92	96	95					9																	98669408		2203	4300	6503	SO:0001587	stop_gained	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.676G>T	9.37:g.98669408G>T	ENSP00000288985:p.Glu226*		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E37*	ENST00000288985.7	37	c.109	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.232840	0.97399	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	.	.	.	5.45	5.45	0.79879	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.0117	19.2951	0.94118	0.0:0.0:1.0:0.0	.	.	.	.	X	226;37	.	ENSP00000288985:E226X	E	+	1	0	C9orf102	97709229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.635000	0.91006	2.559000	0.86315	0.591000	0.81541	GAA	ERCC6L2	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98669408	1	no_errors	ENST00000437817	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	98669408	G	T	98669408	4	4	94	1	0	0	0	0	0	1	0	0	2450	1291	45	3	690	3	C9orf102	9	98669408	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	3591380	98669408	42544023	88	13473										
SVEP1	79987	genome.wustl.edu	37	chr9	113245917	113245917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gcttgcggcatgtaccttctCcgagacctggacgggaggtg	15	11	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:113245917C>G	ENST00000401783.2	-	10	2323	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	SVEP1_ENST00000374461.1_Missense_Mutation_p.E640Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.E640Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.E663Q|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	663	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTACCTTCTCCGAGACCTGG	0.473																																																	0													65	64	64					9																	113245917		1989	4173	6162	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1987G>C	9.37:g.113245917C>G	ENSP00000384917:p.Glu663Gln		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E663Q	ENST00000401783.2	37	c.1987	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949693	0.53186	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.42	4.5	0.54988	Hyalin (2);	0.313089	0.36200	N	0.002739	T	0.28101	0.0693	M	0.73962	2.25	0.32745	N	0.507142	P;P;P	0.43231	0.801;0.801;0.763	B;B;B	0.40636	0.265;0.335;0.173	T	0.45411	-0.9263	10	0.41790	T	0.15	.	15.0655	0.71992	0.0:0.9283:0.0:0.0717	.	663;663;663	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Q	663;640;663;640	ENSP00000384917:E663Q;ENSP00000363593:E640Q;ENSP00000304118:E663Q;ENSP00000363585:E640Q	ENSP00000304118:E663Q	E	-	1	0	SVEP1	112285738	0.983000	0.35010	0.943000	0.38184	0.161000	0.22273	2.679000	0.46909	2.718000	0.92993	0.591000	0.81541	GAG	SVEP1	-	pfam_Hyalin,pfscan_Hyalin		0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113245917	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.993	G	G	113245917	C	G	113245917	3	3	94	1	0	0	0	0	1	0	0	0	15450	864	30	1	8884	1	SVEP1	9	113245917	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	14576509	113245917	27967514	89	13474										
LHX6	26468	genome.wustl.edu	37	chr9	124988717	124988717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tagcagctgttctgctgcctCagcgacgtgcgacacacgga	12	13	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:124988717C>T	ENST00000373755.2	-	3	420	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LHX6_ENST00000373754.2_Silent_p.L104L|LHX6_ENST00000541397.2_Silent_p.L122L|LHX6_ENST00000340587.3_Silent_p.L133L|LHX6_ENST00000559529.1_5'Flank|LHX6_ENST00000394319.4_Silent_p.L133L	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	104	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						TCTGCTGCCTCAGCGACGTGC	0.647																																																	0													85	82	83					9																	124988717		2203	4300	6503	SO:0001819	synonymous_variant	26468			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.312G>A	9.37:g.124988717C>T			A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.L133	ENST00000373755.2	37	c.399	CCDS56583.1	9																																																																																			LHX6	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.647	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	C	NM_014368		124988717	-1	no_errors	ENST00000394319	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124988717	C	T	124988717	2	4	94	1	0	0	0	0	0	0	0	1	8795	813	29	1		1	LHX6	9	124988717	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	11742800	124988717	16224714	90	13475										
TOR1B	27348	genome.wustl.edu	37	chr9	132569559	132569559	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gataaattgcaccccgggatCattgacgcaatcaagccgtt	9	11	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:132569559C>T	ENST00000259339.2	+	3	618	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	186					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				ACCCCGGGATCATTGACGCAA	0.498																																																	0													195	183	187					9																	132569559		2203	4300	6503	SO:0001819	synonymous_variant	27348			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.558C>T	9.37:g.132569559C>T				Silent	SNP	pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr	p.I186	ENST00000259339.2	37	c.558	CCDS6929.1	9																																																																																			TOR1B	-	pfam_ATPase_AAA_core,pirsf_Torsin_subgr		0.498	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1B	HGNC	protein_coding	OTTHUMT00000054615.1	C	NM_014506		132569559	1	no_errors	ENST00000259339	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132569559	C	T	132569559	2	4	94	1	0	0	0	0	0	0	0	1	16405	816	29	1		1	TOR1B	9	132569559	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	7580842	132569559	8643872	91	13476										
TOR1B	27348	genome.wustl.edu	37	chr9	132569634	132569634	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	taccgcaaagccatcttcatCtttctcaggtcagcgggagg	10	12	5	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr9:132569634C>T	ENST00000259339.2	+	3	693	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	211					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCATCTTCATCTTTCTCAGGT	0.483																																																	0													184	178	180					9																	132569634		2203	4300	6503	SO:0001819	synonymous_variant	27348			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.633C>T	9.37:g.132569634C>T				Silent	SNP	pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr	p.I211	ENST00000259339.2	37	c.633	CCDS6929.1	9																																																																																			TOR1B	-	pfam_ATPase_AAA_core,pirsf_Torsin_subgr		0.483	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1B	HGNC	protein_coding	OTTHUMT00000054615.1	C	NM_014506		132569634	1	no_errors	ENST00000259339	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132569634	C	T	132569634	2	4	94	1	0	0	0	0	0	0	0	1	16405	903	32	1		1	TOR1B	9	132569634	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	75	132569634	8643797	92	13477										
TAF3	83860	genome.wustl.edu	37	chr10	8006430	8006430	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggacgttccaagagccccaaGagtcccaagagccccaaggt	11	14	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:8006430G>A	ENST00000344293.5	+	3	1163	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	319					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agagccccaagagtcccaaga	0.493																																																	0													39	40	40					10																	8006430		1864	4093	5957	SO:0001819	synonymous_variant	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.957G>A	10.37:g.8006430G>A			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K319	ENST00000344293.5	37	c.957	CCDS41487.1	10																																																																																			TAF3	-	NULL		0.493	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	G	NM_031923		8006430	1	no_errors	ENST00000344293	ensembl	human	known	70_37	silent	SNP	0.893	A	A	8006430	G	A	8006430	2	1	94	1	0	0	0	0	0	0	0	1	15555	933	33	1		1	TAF3	10	8006430	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09		8006430	127528317	93	13478										
UPF2	26019	genome.wustl.edu	37	chr10	12046574	12046574	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tttattctgacaacttttttCattgtctttaaacaagatgg	5	6	3	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:12046574C>T	ENST00000356352.2	-	4	1932	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	UPF2_ENST00000357604.5_Missense_Mutation_p.E487K|UPF2_ENST00000397053.2_Missense_Mutation_p.E487K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	487					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAACTTTTTTCATTGTCTTTA	0.328																																																	0													71	67	69					10																	12046574		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1459G>A	10.37:g.12046574C>T	ENSP00000348708:p.Glu487Lys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E487K	ENST00000356352.2	37	c.1459	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569976	0.65765	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.28895	1.59;1.59;1.59	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	N	0.25647	0.755	0.80722	D	1	D;B	0.56035	0.974;0.296	D;B	0.70487	0.969;0.074	T	0.15378	-1.0439	10	0.23302	T	0.38	.	18.4495	0.90697	0.0:1.0:0.0:0.0	.	457;487	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	K	487;487;457;487;457	ENSP00000348708:E487K;ENSP00000350221:E487K;ENSP00000380244:E487K	ENSP00000313617:E457K	E	-	1	0	UPF2	12086580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.357000	0.79964	0.563000	0.77884	GAA	UPF2	-	NULL		0.328	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			12046574	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12046574	C	T	12046574	3	4	94	1	0	0	0	0	1	0	0	0	17035	835	29	1	2431	1	UPF2	10	12046574	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	4040144	12046574	123488173	94	13479										
DHTKD1	55526	genome.wustl.edu	37	chr10	12160859	12160859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atcatccgagtagaggaactCtgccccttcccgttggattc	9	13	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:12160859C>T	ENST00000263035.4	+	15	2576	c.2514C>T	c.(2512-2514)ctC>ctT	p.L838L	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	838					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TAGAGGAACTCTGCCCCTTCC	0.453																																																	0													150	148	149					10																	12160859		2203	4300	6503	SO:0001819	synonymous_variant	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2514C>T	10.37:g.12160859C>T			Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L838	ENST00000263035.4	37	c.2514	CCDS7087.1	10																																																																																			DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.453	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12160859	1	no_errors	ENST00000263035	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12160859	C	T	12160859	2	4	94	1	0	0	0	0	0	0	0	1	4510	900	32	1		1	DHTKD1	10	12160859	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	114285	12160859	123373888	95	13480										
SVIL	6840	genome.wustl.edu	37	chr10	29843751	29843751	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtcgctggctctcatgtatcGaggggtgtcttcctccagca	12	12	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:29843751G>C	ENST00000355867.4	-	5	873	c.121C>G	c.(121-123)Cga>Gga	p.R41G	SVIL_ENST00000375398.2_Missense_Mutation_p.R41G|SVIL_ENST00000375400.3_Missense_Mutation_p.R41G	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	41	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCATGTATCGAGGGGTGTCT	0.612																																																	0													43	41	42					10																	29843751		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.121C>G	10.37:g.29843751G>C	ENSP00000348128:p.Arg41Gly		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.R41G	ENST00000355867.4	37	c.121	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243199	0.79912	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.49720	0.77;0.77;0.77	5.82	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70597	-0.4828	9	.	.	.	-17.2309	22.5832	0.99973	0.0:0.0:0.8098:0.1902	.	41;41	O95425-2;O95425	.;SVIL_HUMAN	G	41	ENSP00000364549:R41G;ENSP00000364547:R41G;ENSP00000348128:R41G	.	R	-	1	2	SVIL	29883757	0.198000	0.23374	0.960000	0.40013	0.986000	0.74619	-0.022000	0.12480	-0.441000	0.07201	0.655000	0.94253	CGA	SVIL	-	NULL		0.612	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	G			29843751	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	missense	SNP	0.954	C	C	29843751	G	C	29843751	3	2	94	1	0	0	0	0	1	0	0	0	15451	1066	37	1	6659	1	SVIL	10	29843751	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	17682892	29843751	105690996	96	13481										
ANKRD30A	91074	genome.wustl.edu	37	chr10	37442509	37442509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acttttaacagagtctctgtGagactgtttcacagaaggat	9	7	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:37442509G>A	ENST00000602533.1	+	13	1648	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E517K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E517K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	573					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGTCTCTGTGAGACTGTTTC	0.269																																																	0													101	103	102					10																	37442509		1794	4062	5856	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1549G>A	10.37:g.37442509G>A	ENSP00000473551:p.Glu517Lys		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E517K	ENST00000602533.1	37	c.1549		10	.	.	.	.	.	.	.	.	.	.	.	9.485	1.099141	0.20552	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.09911	2.93;2.93	1.47	1.47	0.22746	.	.	.	.	.	T	0.07188	0.0182	L	0.34521	1.04	0.09310	N	1	B	0.25521	0.128	B	0.19666	0.026	T	0.37572	-0.9700	9	0.19590	T	0.45	.	6.4351	0.21819	0.0:0.0:1.0:0.0	.	573	Q9BXX3	AN30A_HUMAN	K	517	ENSP00000354432:E517K;ENSP00000363792:E517K	ENSP00000354432:E517K	E	+	1	0	ANKRD30A	37482515	0.003000	0.15002	0.008000	0.14137	0.004000	0.04260	0.604000	0.24164	1.140000	0.42260	0.384000	0.25694	GAG	ANKRD30A	-	NULL		0.269	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	G	NM_052997		37442509	1	no_errors	ENST00000361713	ensembl	human	known	70_37	missense	SNP	0.009	A	A	37442509	G	A	37442509	3	1	94	1	0	0	0	0	1	0	0	0	658	1291	45	1	1599	1	ANKRD30A	10	37442509	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	7598758	37442509	98092238	97	13482										
ALOX5	240	genome.wustl.edu	37	chr10	45920431	45920431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gggtcatgaatcactggcagGaagacctgatgtttggctac	13	8	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:45920431G>A	ENST00000374391.2	+	6	738	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	ALOX5_ENST00000542434.1_Missense_Mutation_p.E229K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	229	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TCACTGGCAGGAAGACCTGAT	0.602																																																	0													135	135	135					10																	45920431		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.685G>A	10.37:g.45920431G>A	ENSP00000363512:p.Glu229Lys		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.E229K	ENST00000374391.2	37	c.685	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173510	0.57584	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90563	-2.69;-2.69	5.43	5.43	0.79202	Lipoxygenase, C-terminal (3);	0.164524	0.52532	D	0.000065	D	0.89262	0.6665	M	0.68317	2.08	0.80722	D	1	B;B;B	0.32800	0.385;0.183;0.117	B;B;B	0.28385	0.089;0.068;0.056	D	0.89012	0.3429	10	0.59425	D	0.04	-11.5211	16.7212	0.85410	0.0:0.0:1.0:0.0	.	229;229;229	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	K	229	ENSP00000437634:E229K;ENSP00000363512:E229K	ENSP00000363512:E229K	E	+	1	0	ALOX5	45240437	1.000000	0.71417	0.999000	0.59377	0.157000	0.22087	9.869000	0.99810	2.548000	0.85928	0.650000	0.86243	GAA	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C		0.602	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	G			45920431	1	no_errors	ENST00000374391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45920431	G	A	45920431	3	1	94	1	0	0	0	0	1	0	0	0	540	1175	41	1	707	1	ALOX5	10	45920431	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	8477922	45920431	89614316	98	13483										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72517980	72517980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gatgtctgggaacttgggacGccagaggggcagtgggtgcc	19	8	1	1	rs368301219		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:72517980G>A	ENST00000373207.1	+	21	3117	c.3117G>A	c.(3115-3117)acG>acA	p.T1039T	ADAMTS14_ENST00000373208.1_Silent_p.T1042T	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1039					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AACTTGGGACGCCAGAGGGGC	0.527																																																	0													102	93	96					10																	72517980		2203	4300	6503	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3117G>A	10.37:g.72517980G>A			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.T1042	ENST00000373207.1	37	c.3126	CCDS7306.1	10																																																																																			ADAMTS14	-	NULL		0.527	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72517980	1	no_errors	ENST00000373208	ensembl	human	known	70_37	silent	SNP	0.007	A	A	72517980	G	A	72517980	2	1	94	1	0	0	0	0	0	0	0	1	259	1074	38	2		2	ADAMTS14	10	72517980	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	26597549	72517980	63016767	99	13484										
ANKRD1	27063	genome.wustl.edu	37	chr10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gagaagaaggaataccttatCtcgggcgctaatttttgctc	10	8	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											82	79	80					10																	92675933		2203	4300	6503	SO:0001583	missense	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.646G>A	10.37:g.92675933C>T	ENSP00000360762:p.Asp216Asn		Q96LE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D216N	ENST00000371697.3	37	c.646	CCDS7412.1	10	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000148677	ENST00000371697	T	0.57107	0.42	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.53780	1.695	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	T	0.64550	-0.6381	10	0.37606	T	0.19	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	N	216	ENSP00000360762:D216N	ENSP00000360762:D216N	D	-	1	0	ANKRD1	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT	ANKRD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.522	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD1	HGNC	protein_coding	OTTHUMT00000049357.1	C	NM_014391		92675933	-1	no_errors	ENST00000371697	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92675933	C	T	92675933	3	4	94	1	0	0	0	0	1	0	0	0	637	913	32	1	329	1	ANKRD1	10	92675933	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	20157953	92675933	42858814	100	13485										
C10orf12	26148	genome.wustl.edu	37	chr10	98741904	98741904	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atgtgcagcttcccagagaaGacaaccctgaagaacctagc	9	12	0	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr10:98741904G>A	ENST00000286067.2	+	1	864	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	253								p.D253H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCCCAGAGAAGACAACCCTGA	0.507																																																	1	Substitution - Missense(1)	breast(1)											95	96	95					10																	98741904		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.757G>A	10.37:g.98741904G>A	ENSP00000286067:p.Asp253Asn		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.D253N	ENST00000286067.2	37	c.757	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914992	0.72983	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.11385	2.78	6.05	6.05	0.98169	.	0.431244	0.19198	N	0.120253	T	0.22513	0.0543	L	0.29908	0.895	0.37730	D	0.925232	D;D	0.89917	1.0;1.0	D;D	0.72338	0.961;0.977	T	0.01202	-1.1420	10	0.38643	T	0.18	-13.5951	16.1087	0.81244	0.0:0.0:1.0:0.0	.	87;253	A0PJI9;Q8N655	.;CJ012_HUMAN	N	253;87	ENSP00000286067:D253N	ENSP00000286067:D253N	D	+	1	0	C10orf12	98731894	0.944000	0.32072	0.994000	0.49952	0.970000	0.65996	1.908000	0.39907	2.880000	0.98712	0.655000	0.94253	GAC	C10orf12	-	NULL		0.507	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98741904	1	no_errors	ENST00000286067	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98741904	G	A	98741904	3	1	94	1	0	0	0	0	1	0	0	0	1593	942	33	1	759	1	C10orf12	10	98741904	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6065971	98741904	36792843	101	13486										
OSBPL5	114879	genome.wustl.edu	37	chr11	3128499	3128499	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tggggggctctcacctccccCagctcctcctggacctgctc	10	19	1	0	rs35251100		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:3128499C>G	ENST00000263650.7	-	9	1212	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Silent_p.L262L|OSBPL5_ENST00000348039.5_Silent_p.L283L|OSBPL5_ENST00000389989.3_Silent_p.L283L	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	351					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCACCTCCCCCAGCTCCTCCT	0.677																																																	0													34	39	37					11																	3128499		2202	4297	6499	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1053G>C	11.37:g.3128499C>G			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L351	ENST00000263650.7	37	c.1053	CCDS31344.1	11																																																																																			OSBPL5	-	NULL		0.677	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3128499	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	silent	SNP	0.448	G	G	3128499	C	G	3128499	2	3	94	1	0	0	0	0	0	0	0	1	11304	581	21	4		4	OSBPL5	11	3128499	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		3128499	131878017	102	13487										
OR52E2	119678	genome.wustl.edu	37	chr11	5080666	5080666	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtggtggccaacatggccagGaagtagaacatgggctggtg	17	7	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:5080666G>A	ENST00000321522.2	-	1	191	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACATGGCCAGGAAGTAGAACA	0.483																																																	0													104	90	95					11																	5080666		2201	4298	6499	SO:0001819	synonymous_variant	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.192C>T	11.37:g.5080666G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F64	ENST00000321522.2	37	c.192	CCDS31371.1	11																																																																																			OR52E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	G	NM_001005164		5080666	-1	no_errors	ENST00000321522	ensembl	human	known	70_37	silent	SNP	0.999	A	A	5080666	G	A	5080666	2	1	94	1	0	0	0	0	0	0	0	1	11139	1165	41	1		1	OR52E2	11	5080666	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	1952167	5080666	129925850	103	13488										
TAF6L	10629	genome.wustl.edu	37	chr11	62554674	62554674	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtacgggcctagcccggcctCgcgctacgtgcagaaactgc	13	15	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:62554674C>G	ENST00000294168.3	+	11	1976	c.1775C>G	c.(1774-1776)tCg>tGg	p.S592W	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_5'Flank|TMEM179B_ENST00000333449.4_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	592					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCCGGCCTCGCGCTACGTG	0.687											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10	12	11					11																	62554674		2123	4210	6333	SO:0001583	missense	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1775C>G	11.37:g.62554674C>G	ENSP00000294168:p.Ser592Trp	1062	B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.S592W	ENST00000294168.3	37	c.1775	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202595	0.79127	.	.	ENSG00000162227	ENST00000294168	T	0.51325	0.71	4.85	3.93	0.45458	.	0.142241	0.49305	D	0.000144	T	0.48277	0.1491	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	T	0.52697	-0.8541	10	0.87932	D	0	-9.7489	11.0794	0.48051	0.0:0.9089:0.0:0.0911	.	592	Q9Y6J9	TAF6L_HUMAN	W	592	ENSP00000294168:S592W	ENSP00000294168:S592W	S	+	2	0	TAF6L	62311250	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.161000	0.71868	1.252000	0.44001	0.484000	0.47621	TCG	TAF6L	-	NULL		0.687	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	C	NM_006473		62554674	1	no_errors	ENST00000294168	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62554674	C	G	62554674	3	3	94	1	0	0	0	0	1	0	0	0	15561	893	31	1	1813	1	TAF6L	11	62554674	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	57474008	62554674	72451842	104	13489										
KDM2A	22992	genome.wustl.edu	37	chr11	67017739	67017739	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcccctggggctggccccagCgaccaccacagtgccagccg	12	19	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:67017739C>G	ENST00000529006.2	+	17	2684	c.2238C>G	c.(2236-2238)agC>agG	p.S746R	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S746R|KDM2A_ENST00000530342.1_Missense_Mutation_p.S307R|KDM2A_ENST00000308783.5_Missense_Mutation_p.S204R	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	746					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTGGCCCCAGCGACCACCACA	0.647																																																	0													28	32	31					11																	67017739		1961	4148	6109	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2238C>G	11.37:g.67017739C>G	ENSP00000432786:p.Ser746Arg		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.S746R	ENST00000529006.2	37	c.2238	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702891	0.48307	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T;T	0.42513	0.97;2.1;1.67;1.74	6.02	4.14	0.48551	.	0.307754	0.44097	D	0.000486	T	0.41534	0.1163	M	0.69358	2.11	0.51767	D	0.999934	P;P	0.52842	0.956;0.956	P;P	0.45474	0.482;0.482	T	0.30446	-0.9978	10	0.18276	T	0.48	-13.6881	10.2608	0.43425	0.0:0.7952:0.0:0.2048	.	204;746	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	R	746;746;307;307;204	ENSP00000381640:S746R;ENSP00000432786:S746R;ENSP00000435776:S307R;ENSP00000309302:S204R	ENSP00000309302:S204R	S	+	3	2	KDM2A	66774315	0.756000	0.28383	1.000000	0.80357	1.000000	0.99986	-0.273000	0.08548	1.554000	0.49487	0.650000	0.86243	AGC	KDM2A	-	NULL		0.647	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	C	NM_012308		67017739	1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67017739	C	G	67017739	3	3	94	1	0	0	0	0	1	0	0	0	8144	767	27	2	2300	2	KDM2A	11	67017739	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	4463065	67017739	67988777	105	13490										
CABP4	57010	genome.wustl.edu	37	chr11	67225898	67225898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gagctgcgggaggcggtaccGgctctgctcggggagccgct	19	12	1	0	rs550153300		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:67225898G>A	ENST00000325656.5	+	5	785	c.708G>A	c.(706-708)ccG>ccA	p.P236P	CABP4_ENST00000438189.2_Silent_p.P131P|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	236	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGCGGTACCGGCTCTGCTCG	0.632																																																	0													51	56	55					11																	67225898		2200	4295	6495	SO:0001819	synonymous_variant	57010			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.708G>A	11.37:g.67225898G>A			Q8N4Z2|Q8WWY5	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.P236	ENST00000325656.5	37	c.708	CCDS8166.1	11																																																																																			CABP4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.632	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP4	HGNC	protein_coding	OTTHUMT00000397624.2	G			67225898	1	no_errors	ENST00000325656	ensembl	human	known	70_37	silent	SNP	0.000	A	A	67225898	G	A	67225898	2	1	94	1	0	0	0	0	0	0	0	1	2538	1103	39	2		2	CABP4	11	67225898	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	208159	67225898	67780618	106	13491										
CABP2	51475	genome.wustl.edu	37	chr11	67287316	67287316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tccacgtcctggaggatctcGtccacctcccgctggctgag	11	16	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:67287316G>A	ENST00000294288.4	-	6	654	c.585C>T	c.(583-585)gaC>gaT	p.D195D	CABP2_ENST00000353903.5_Silent_p.D138D	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	195	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGAGGATCTCGTCCACCTCCC	0.667																																																	0													76	74	74					11																	67287316		2200	4295	6495	SO:0001819	synonymous_variant	51475			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.585C>T	11.37:g.67287316G>A				Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D195	ENST00000294288.4	37	c.585	CCDS8170.1	11																																																																																			CABP2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.667	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	HGNC	protein_coding	OTTHUMT00000397516.1	G			67287316	-1	no_errors	ENST00000294288	ensembl	human	known	70_37	silent	SNP	0.376	A	A	67287316	G	A	67287316	2	1	94	1	0	0	0	0	0	0	0	1	2537	1136	40	2		2	CABP2	11	67287316	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	61418	67287316	67719200	107	13492										
NDUFV1	4723	genome.wustl.edu	37	chr11	67378577	67378577	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctttggcagagaacgcaactCaggcaccaaactattcaaca	7	12	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:67378577C>G	ENST00000322776.6	+	6	965	c.812C>G	c.(811-813)tCa>tGa	p.S271*	NDUFV1_ENST00000532303.1_Nonsense_Mutation_p.S170*|NDUFV1_ENST00000415352.2_Nonsense_Mutation_p.S264*|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Nonsense_Mutation_p.S262*|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	271					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GAACGCAACTCAGGCACCAAA	0.547																																																	0													129	107	115					11																	67378577		2200	4294	6494	SO:0001587	stop_gained	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.812C>G	11.37:g.67378577C>G	ENSP00000322450:p.Ser271*		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Nonsense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.S271*	ENST00000322776.6	37	c.812	CCDS8173.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.702711	0.97776	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	.	.	.	4.84	4.84	0.62591	.	0.064020	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.3479	16.6632	0.85246	0.0:1.0:0.0:0.0	.	.	.	.	X	271;170;262;264;142	.	ENSP00000322450:S271X	S	+	2	0	NDUFV1	67135153	1.000000	0.71417	0.968000	0.41197	0.920000	0.55202	7.558000	0.82253	2.506000	0.84524	0.491000	0.48974	TCA	NDUFV1	-	tigrfam_NADH-UbQ_OxRdtase_suF		0.547	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	C	NM_007103		67378577	1	no_errors	ENST00000322776	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	67378577	C	G	67378577	4	3	94	1	0	0	0	0	0	1	0	0	10323	838	29	1	834	1	NDUFV1	11	67378577	Nonsense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	91261	67378577	67627939	108	13493										
INPPL1	3636	genome.wustl.edu	37	chr11	71944182	71944182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gggttcccgggacacatatgCctggcacaagcagaagccaa	12	12	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:71944182C>G	ENST00000298229.2	+	17	2219	c.2015C>G	c.(2014-2016)gCc>gGc	p.A672G	INPPL1_ENST00000538751.1_Missense_Mutation_p.A430G|INPPL1_ENST00000541756.1_Missense_Mutation_p.A430G	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	672					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GACACATATGCCTGGCACAAG	0.587																																																	0													43	42	42					11																	71944182		2200	4293	6493	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2015C>G	11.37:g.71944182C>G	ENSP00000298229:p.Ala672Gly		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.A672G	ENST00000298229.2	37	c.2015	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	c	17.93	3.510256	0.64522	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.80824	-1.42;-1.42;-1.42	5.66	4.73	0.59995	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.215984	0.40302	N	0.001122	T	0.74275	0.3695	L	0.43152	1.355	0.43010	D	0.994548	P	0.37122	0.583	B	0.40565	0.333	T	0.76121	-0.3075	10	0.87932	D	0	.	7.9597	0.30064	0.0:0.8307:0.0:0.1693	.	672	O15357	SHIP2_HUMAN	G	672;430;430	ENSP00000298229:A672G;ENSP00000446360:A430G;ENSP00000444619:A430G	ENSP00000298229:A672G	A	+	2	0	INPPL1	71621830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.588000	0.67517	2.830000	0.97506	0.655000	0.94253	GCC	INPPL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.587	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	C	NM_001567		71944182	1	no_errors	ENST00000298229	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71944182	C	G	71944182	3	3	94	1	0	0	0	0	1	0	0	0	7781	739	26	4	2081	4	INPPL1	11	71944182	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	4565605	71944182	63062334	109	13494										
TRIM49	57093	genome.wustl.edu	37	chr11	89532887	89532887	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgtgggtggagacttacctcGgaattggttgagcctgtccc	14	9	0	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:89532887G>A	ENST00000329758.1	-	7	1184	c.856C>T	c.(856-858)Cga>Tga	p.R286*	TRIM49_ENST00000532501.2_Nonsense_Mutation_p.R209*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GACTTACCTCGGAATTGGTTG	0.458																																																	0																																										SO:0001587	stop_gained	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.856C>T	11.37:g.89532887G>A	ENSP00000327604:p.Arg286*		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R286*	ENST00000329758.1	37	c.856	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238341	0.39598	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	.	.	.	0.763	0.763	0.18459	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9784	0.14153	0.0:0.0:1.0:0.0	.	.	.	.	X	286;209	.	.	R	-	1	2	TRIM49	89172535	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.169000	0.09911	0.747000	0.32809	0.134000	0.15878	CGA	TRIM49	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	G	NM_020358		89532887	-1	no_errors	ENST00000329758	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	89532887	G	A	89532887	4	1	94	1	0	0	0	0	0	1	0	0	16555	1124	39	2	510	2	TRIM49	11	89532887	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	17588705	89532887	45473629	110	13495										
IFT46	56912	genome.wustl.edu	37	chr11	118425278	118425278	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	taccaataggccaaggttgtCaggctttccatcaggacgtg	11	10	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:118425278C>T	ENST00000264021.3	-	7	797	c.379G>A	c.(379-381)Gac>Aac	p.D127N	IFT46_ENST00000530872.1_Missense_Mutation_p.D178N|IFT46_ENST00000264020.2_Missense_Mutation_p.D178N	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	127					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCAAGGTTGTCAGGCTTTCCA	0.428																																																	0													169	157	161					11																	118425278		2200	4295	6495	SO:0001583	missense	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.379G>A	11.37:g.118425278C>T	ENSP00000264021:p.Asp127Asn		A8K0F6|Q9H6V5	Missense_Mutation	SNP	pfam_Intraflagellar_transp_cmplxB	p.D178N	ENST00000264021.3	37	c.532	CCDS53718.1	11	.	.	.	.	.	.	.	.	.	.	C	37	5.987871	0.97179	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156	T;T;T;T;T	0.56103	0.49;0.55;0.55;0.53;0.48	5.85	5.85	0.93711	.	0.047096	0.85682	D	0.000000	T	0.66742	0.2820	M	0.80508	2.5	0.80722	D	1	P;P;P	0.43701	0.815;0.549;0.554	B;B;P	0.46850	0.322;0.31;0.529	T	0.69903	-0.5019	10	0.62326	D	0.03	-10.3344	20.2346	0.98355	0.0:1.0:0.0:0.0	.	178;127;178	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	N	127;178;178;127;127	ENSP00000264021:D127N;ENSP00000264020:D178N;ENSP00000432384:D178N;ENSP00000435826:D127N;ENSP00000434175:D127N	ENSP00000264020:D178N	D	-	1	0	IFT46	117930488	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.260000	0.78391	2.790000	0.95986	0.650000	0.86243	GAC	IFT46	-	pfam_Intraflagellar_transp_cmplxB		0.428	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	HGNC	protein_coding	OTTHUMT00000389627.1	C	NM_020153		118425278	-1	no_errors	ENST00000264020	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118425278	C	T	118425278	3	4	94	1	0	0	0	0	1	0	0	0	7580	826	29	1	559	1	IFT46	11	118425278	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	28892391	118425278	16581238	111	13496										
SLC37A4	2542	genome.wustl.edu	37	chr11	118900036	118900036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgtagcccccaaacatggctGagaagatcacagtgcgataa	10	10	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr11:118900036G>A	ENST00000545985.1	-	3	800	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15L|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15L|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAACATGGCTGAGAAGATCAC	0.512																																																	0													86	86	86					11																	118900036		2039	4185	6224	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.44C>T	11.37:g.118900036G>A	ENSP00000475241:p.Ser15Leu		O96016|Q5J7V4|Q9UI19|Q9UNS4	RNA	SNP	-	NULL	ENST00000545985.1	37	NULL		11																																																																																			SLC37A4	-	-		0.512	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	SLC37A4	HGNC	protein_coding		G	NM_001467		118900036	-1	no_errors	ENST00000330775	ensembl	human	known	70_37	rna	SNP	0.292	A	A	118900036	G	A	118900036	3	1	94	1	0	0	0	0	1	0	0	0	14630	1294	45	1	1348	1	SLC37A4	11	118900036	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	474758	118900036	16106480	112	13497										
CCDC77	84318	genome.wustl.edu	37	chr12	539854	539854	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccattctccaaaagactatcCaggctgtaggtgaatgtgag	10	9	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:539854C>T	ENST00000239830.4	+	7	714	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	CCDC77_ENST00000422000.1_Nonsense_Mutation_p.Q147*|CCDC77_ENST00000412006.2_Nonsense_Mutation_p.Q147*|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000540180.1_Nonsense_Mutation_p.Q147*	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	179						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAAGACTATCCAGGCTGTAGG	0.373																																																	0													135	131	132					12																	539854		2203	4300	6503	SO:0001587	stop_gained	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.535C>T	12.37:g.539854C>T	ENSP00000239830:p.Gln179*		B4DDE8	Nonsense_Mutation	SNP	NULL	p.Q179*	ENST00000239830.4	37	c.535	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557472	0.86231	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	.	.	.	5.18	5.18	0.71444	.	0.821953	0.11212	N	0.587650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7966	13.1826	0.59663	0.1604:0.8396:0.0:0.0	.	.	.	.	X	147;147;147;179;147	.	ENSP00000239830:Q179X	Q	+	1	0	CCDC77	410115	0.198000	0.23374	0.030000	0.17652	0.212000	0.24457	1.366000	0.34193	2.415000	0.81967	0.478000	0.44815	CAG	CCDC77	-	NULL		0.373	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	C	NM_032358		539854	1	no_errors	ENST00000239830	ensembl	human	known	70_37	nonsense	SNP	0.013	T	T	539854	C	T	539854	4	4	94	1	0	0	0	0	0	1	0	0	2856	595	21	4	553	4	CCDC77	12	539854	Nonsense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		539854	133312041	113	13498										
FKBP4	2288	genome.wustl.edu	37	chr12	2909265	2909265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aacagagcaccatagtgaaaGagcggggcactgtgtacttc	12	9	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:2909265G>C	ENST00000001008.4	+	7	1010	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	275	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CATAGTGAAAGAGCGGGGCAC	0.527																																																	0													110	108	109					12																	2909265		2203	4300	6503	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.823G>C	12.37:g.2909265G>C	ENSP00000001008:p.Glu275Gln		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E275Q	ENST00000001008.4	37	c.823	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367127	0.82463	.	.	ENSG00000004478	ENST00000001008	T	0.74737	-0.87	5.38	5.38	0.77491	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.095878	0.64402	D	0.000001	T	0.79375	0.4435	M	0.78285	2.405	0.80722	D	1	P	0.50943	0.94	P	0.45794	0.493	T	0.82922	-0.0217	10	0.62326	D	0.03	-36.2317	17.7141	0.88331	0.0:0.0:1.0:0.0	.	275	Q02790	FKBP4_HUMAN	Q	275	ENSP00000001008:E275Q	ENSP00000001008:E275Q	E	+	1	0	FKBP4	2779526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.452000	0.80683	2.528000	0.85240	0.561000	0.74099	GAG	FKBP4	-	smart_TPR_repeat,pfscan_TPR_repeat		0.527	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	G			2909265	1	no_errors	ENST00000001008	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2909265	G	C	2909265	3	2	94	1	0	0	0	0	1	0	0	0	5928	943	33	1	849	1	FKBP4	12	2909265	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	2369411	2909265	130942630	114	13499										
DDX23	9416	genome.wustl.edu	37	chr12	49229908	49229908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgctagctgacctcacctgtCaattttgggaagtgtggtga	12	8	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:49229908C>T	ENST00000308025.3	-	11	1457	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	460	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCTCACCTGTCAATTTTGGGA	0.478																																																	0													195	183	187					12																	49229908		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1378G>A	12.37:g.49229908C>T	ENSP00000310723:p.Asp460Asn		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D460N	ENST00000308025.3	37	c.1378	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681970	0.68042	.	.	ENSG00000174243	ENST00000308025	T	0.14766	2.48	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.11789	0.175	0.80722	D	1	P	0.44006	0.824	B	0.43301	0.415	T	0.29640	-1.0005	10	0.22706	T	0.39	.	18.1267	0.89587	0.0:1.0:0.0:0.0	.	460	Q9BUQ8	DDX23_HUMAN	N	460	ENSP00000310723:D460N	ENSP00000310723:D460N	D	-	1	0	DDX23	47516175	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.601000	0.82783	2.571000	0.86741	0.561000	0.74099	GAC	DDX23	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.478	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	C	NM_004818		49229908	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49229908	C	T	49229908	3	4	94	1	0	0	0	0	1	0	0	0	4355	826	29	1	1112	1	DDX23	12	49229908	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	46320643	49229908	84621987	115	13500										
LARP4	113251	genome.wustl.edu	37	chr12	50860803	50860803	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aaagtttgacttattagcctCaaattttccacctttacctg	4	10	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:50860803C>T	ENST00000398473.2	+	13	1557	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	LARP4_ENST00000347328.5_Missense_Mutation_p.S411L|LARP4_ENST00000293618.8_Missense_Mutation_p.S411L|LARP4_ENST00000429001.3_Missense_Mutation_p.S488L|LARP4_ENST00000518444.1_Missense_Mutation_p.S481L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	482					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTATTAGCCTCAAATTTTCCA	0.383																																																	0													123	112	116					12																	50860803		1863	4101	5964	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1445C>T	12.37:g.50860803C>T	ENSP00000381490:p.Ser482Leu		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.S488L	ENST00000398473.2	37	c.1463	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394724	0.83011	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.99	4.99	0.66335	.	0.201371	0.44688	D	0.000436	T	0.52996	0.1769	M	0.69358	2.11	0.27981	N	0.93602	P;D;P;P;P;P	0.54397	0.906;0.966;0.51;0.649;0.627;0.702	P;P;B;B;B;P	0.61533	0.713;0.89;0.23;0.439;0.424;0.544	T	0.48340	-0.9044	10	0.56958	D	0.05	.	19.1395	0.93443	0.0:1.0:0.0:0.0	.	383;481;411;411;482;488	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	L	411;488;482;481;383;411	ENSP00000293618:S411L;ENSP00000415464:S488L;ENSP00000381490:S482L;ENSP00000429077:S481L;ENSP00000340901:S411L	ENSP00000293618:S411L	S	+	2	0	LARP4	49147070	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	5.187000	0.65087	2.701000	0.92244	0.455000	0.32223	TCA	LARP4	-	NULL		0.383	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	HGNC	protein_coding	OTTHUMT00000374981.1	C	NM_052879		50860803	1	no_errors	ENST00000429001	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50860803	C	T	50860803	3	4	94	1	0	0	0	0	1	0	0	0	8650	838	29	1	1499	1	LARP4	12	50860803	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1630895	50860803	82991092	116	13501										
DNAJC14	85406	genome.wustl.edu	37	chr12	56215782	56215782	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	caacgttggaagggcctcctCactttcttccgccgcttagg	10	14	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:56215782C>T	ENST00000357606.3	-	8	2377	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	RP11-762I7.5_ENST00000552719.1_Intron|DNAJC14_ENST00000317269.3_Silent_p.V696V|RP11-762I7.5_ENST00000546837.1_Intron|DNAJC14_ENST00000317287.5_Silent_p.V696V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	696					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGGGCCTCCTCACTTTCTTCC	0.542																																																	0													153	142	146					12																	56215782		2203	4300	6503	SO:0001819	synonymous_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.2088G>A	12.37:g.56215782C>T			A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.V696	ENST00000357606.3	37	c.2088	CCDS8894.1	12																																																																																			DNAJC14	-	NULL		0.542	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56215782	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56215782	C	T	56215782	2	4	94	1	0	0	0	0	0	0	0	1	4643	813	29	1		1	DNAJC14	12	56215782	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	5354979	56215782	77636113	117	13502										
NR2C1	7181	genome.wustl.edu	37	chr12	95434349	95434349	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtagtgcacattcaggtactCaggcataggagaaggcatgg	14	7	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:95434349C>T	ENST00000333003.5	-	10	1486	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	NR2C1_ENST00000330677.7_Missense_Mutation_p.E386K|NR2C1_ENST00000393101.3_Missense_Mutation_p.E386K|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	386					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TTCAGGTACTCAGGCATAGGA	0.413																																																	0													132	113	119					12																	95434349		2203	4300	6503	SO:0001583	missense	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1156G>A	12.37:g.95434349C>T	ENSP00000333275:p.Glu386Lys		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.E386K	ENST00000333003.5	37	c.1156	CCDS9051.1	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832240	0.91036	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.96651	-4.08;-4.08;-4.08	6.06	5.17	0.71159	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.044404	0.85682	D	0.000000	D	0.94241	0.8151	M	0.64404	1.975	0.58432	D	0.999999	P;B;B;B	0.46395	0.877;0.003;0.2;0.002	B;B;B;B	0.37731	0.257;0.002;0.042;0.003	D	0.93022	0.6441	10	0.29301	T	0.29	.	15.5372	0.76013	0.0:0.934:0.0:0.066	.	386;386;386;386	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	K	386	ENSP00000333275:E386K;ENSP00000376813:E386K;ENSP00000328843:E386K	ENSP00000328843:E386K	E	-	1	0	NR2C1	93958480	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	7.792000	0.85828	1.577000	0.49804	-0.150000	0.13652	GAG	NR2C1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.413	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2	C	NM_003297		95434349	-1	no_errors	ENST00000333003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95434349	C	T	95434349	3	4	94	1	0	0	0	0	1	0	0	0	10646	835	29	1	753	1	NR2C1	12	95434349	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	39218567	95434349	38417546	118	13503										
CRY1	1407	genome.wustl.edu	37	chr12	107391306	107391306	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agctgctgatagatctgtttCatcctttcgatattcaaacg	7	9	3	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:107391306C>T	ENST00000008527.5	-	9	2319	c.1452G>A	c.(1450-1452)atG>atA	p.M484I		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	484	Interaction with TIMELESS. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AGATCTGTTTCATCCTTTCGA	0.373																																																	0													122	115	117					12																	107391306		2203	4300	6503	SO:0001583	missense	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1452G>A	12.37:g.107391306C>T	ENSP00000008527:p.Met484Ile			Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.M484I	ENST00000008527.5	37	c.1452	CCDS9112.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425784	0.83667	.	.	ENSG00000008405	ENST00000008527;ENST00000319645;ENST00000549356	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.54323	1.7	0.80722	D	1	B	0.31009	0.303	B	0.42188	0.379	T	0.69472	-0.5136	9	0.46703	T	0.11	-19.1981	20.0371	0.97565	0.0:1.0:0.0:0.0	.	484	Q16526	CRY1_HUMAN	I	484;91;4	.	ENSP00000008527:M484I	M	-	3	0	CRY1	105915436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	ATG	CRY1	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C		0.373	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1	C	NM_004075		107391306	-1	no_errors	ENST00000008527	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107391306	C	T	107391306	3	4	94	1	0	0	0	0	1	0	0	0	3908	826	29	1	324	1	CRY1	12	107391306	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	11956957	107391306	26460589	119	13504										
KSR2	283455	genome.wustl.edu	37	chr12	117914376	117914376	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aggtggcatagccagccattCtggatgcgcagtttgtcctc	12	11	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:117914376C>T	ENST00000339824.5	-	17	3202	c.2475G>A	c.(2473-2475)caG>caA	p.Q825Q	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Silent_p.Q796Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAGCCATTCTGGATGCGCA	0.587																																																	0													56	66	62					12																	117914376		2069	4224	6293	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2475G>A	12.37:g.117914376C>T			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q825	ENST00000339824.5	37	c.2475		12																																																																																			KSR2	-	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,pfscan_Prot_kinase_cat_dom		0.587	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	C	NM_173598		117914376	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	0.992	T	T	117914376	C	T	117914376	2	4	94	1	0	0	0	0	0	0	0	1	8602	912	32	1		1	KSR2	12	117914376	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	10523070	117914376	15937519	120	13505										
C12orf43	64897	genome.wustl.edu	37	chr12	121454196	121454196	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccaagccggcattgccgcctCgcggcaccgctccagctcct	10	20	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:121454196C>G	ENST00000288757.3	-	1	104	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	C12orf43_ENST00000536407.2_Missense_Mutation_p.E28Q|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28Q|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000537817.1_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											43	43	43					12																	121454196		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.82G>C	12.37:g.121454196C>G	ENSP00000288757:p.Glu28Gln		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.E28Q	ENST00000288757.3	37	c.82	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.169457|3.169457	0.57584|0.57584	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.58940|.	0.38;0.3|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.046078|.	0.85682|.	D|.	0.000000|.	T|T	0.72977|0.72977	0.3528|0.3528	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;D|.	0.64830|.	0.933;0.794;0.994|.	P;P;P|.	0.58577|.	0.812;0.812;0.841|.	T|T	0.75379|0.75379	-0.3338|-0.3338	10|6	0.54805|0.87932	T|D	0.06|0	-38.6147|-38.6147	14.1151|14.1151	0.65149|0.65149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	Q|P	28|32	ENSP00000288757:E28Q;ENSP00000437803:E28Q|.	ENSP00000288757:E28Q|ENSP00000437546:R32P	E|R	-|-	1|2	0|0	C12orf43|C12orf43	119938579|119938579	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	3.546000|3.546000	0.53656|0.53656	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|CGA	C12orf43	-	NULL		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		C	NM_022895		121454196	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	0.999	G	G	121454196	C	G	121454196	3	3	94	1	0	0	0	0	1	0	0	0	1693	893	31	1	730	1	C12orf43	12	121454196	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	3539820	121454196	12397699	121	13506										
KNTC1	9735	genome.wustl.edu	37	chr12	123078898	123078898	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aagctcttgtggagaatataGatatggacacaagcctcatt	9	7	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr12:123078898G>C	ENST00000333479.7	+	43	4498	c.4321G>C	c.(4321-4323)Gat>Cat	p.D1441H	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1441					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GGAGAATATAGATATGGACAC	0.313																																																	0													117	119	119					12																	123078898		1804	4069	5873	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4321G>C	12.37:g.123078898G>C	ENSP00000328236:p.Asp1441His		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.D1441H	ENST00000333479.7	37	c.4321	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	8.925	0.962050	0.18583	.	.	ENSG00000184445	ENST00000333479	T	0.14766	2.48	5.37	5.37	0.77165	.	0.334690	0.36628	N	0.002482	T	0.11324	0.0276	L	0.40543	1.245	0.80722	D	1	B	0.17268	0.021	B	0.11329	0.006	T	0.12116	-1.0560	10	0.26408	T	0.33	-22.7842	9.1667	0.37056	0.0772:0.1477:0.7751:0.0	.	1441	P50748	KNTC1_HUMAN	H	1441	ENSP00000328236:D1441H	ENSP00000328236:D1441H	D	+	1	0	KNTC1	121644851	0.997000	0.39634	0.890000	0.34922	0.936000	0.57629	2.899000	0.48679	2.494000	0.84150	0.591000	0.81541	GAT	KNTC1	-	NULL		0.313	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123078898	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.982	C	C	123078898	G	C	123078898	3	2	94	1	0	0	0	0	1	0	0	0	8448	942	33	1	4487	1	KNTC1	12	123078898	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	1624702	123078898	10772997	122	13507										
LNX2	222484	genome.wustl.edu	37	chr13	28155748	28155748	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tacaaatggttttctcttgtCcagtgctgttggccacattc	8	10	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr13:28155748C>T	ENST00000316334.3	-	2	222	c.93G>A	c.(91-93)tgG>tgA	p.W31*		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	31					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TTTCTCTTGTCCAGTGCTGTT	0.458																																																	0													149	128	135					13																	28155748		2203	4300	6503	SO:0001587	stop_gained	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.93G>A	13.37:g.28155748C>T	ENSP00000325929:p.Trp31*		Q5W0P0|Q6ZMH2|Q96SH4	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.W31*	ENST00000316334.3	37	c.93	CCDS9323.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.693792	0.96793	.	.	ENSG00000139517	ENST00000316334	.	.	.	6.06	6.06	0.98353	.	0.057770	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	.	.	.	X	31	.	ENSP00000325929:W31X	W	-	3	0	LNX2	27053748	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.428000	0.44749	2.882000	0.98803	0.655000	0.94253	TGG	LNX2	-	NULL		0.458	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	C			28155748	-1	no_errors	ENST00000316334	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	28155748	C	T	28155748	4	4	94	1	0	0	0	0	0	1	0	0	8887	856	30	1	2015	1	LNX2	13	28155748	Nonsense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		28155748	87014130	123	13508										
FREM2	341640	genome.wustl.edu	37	chr13	39264593	39264593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cttttaacctgagtctgtcaGatatgtctcaagaatggaga	9	7	3	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr13:39264593G>A	ENST00000280481.7	+	1	3328	c.3112G>A	c.(3112-3114)Gat>Aat	p.D1038N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1038					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1038Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGTCTGTCAGATATGTCTCA	0.453																																																	1	Substitution - Missense(1)	lung(1)											128	130	129					13																	39264593		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3112G>A	13.37:g.39264593G>A	ENSP00000280481:p.Asp1038Asn		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D1038N	ENST00000280481.7	37	c.3112	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959489	0.74016	.	.	ENSG00000150893	ENST00000280481	T	0.46063	0.88	5.79	5.79	0.91817	.	0.198299	0.51477	D	0.000093	T	0.48352	0.1495	M	0.73217	2.22	0.80722	D	1	B	0.21452	0.056	B	0.20184	0.028	T	0.40813	-0.9543	10	0.46703	T	0.11	.	20.0413	0.97592	0.0:0.0:1.0:0.0	.	1038	Q5SZK8	FREM2_HUMAN	N	1038	ENSP00000280481:D1038N	ENSP00000280481:D1038N	D	+	1	0	FREM2	38162593	1.000000	0.71417	0.945000	0.38365	0.992000	0.81027	8.015000	0.88690	2.751000	0.94390	0.650000	0.86243	GAT	FREM2	-	NULL		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39264593	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39264593	G	A	39264593	3	1	94	1	0	0	0	0	1	0	0	0	6063	942	33	1	3114	1	FREM2	13	39264593	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	11108845	39264593	75905285	124	13509										
C13orf18	80183	genome.wustl.edu	37	chr13	46923456	46923456	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	caggtcttcaacagcttcttGatatggaagagctgctcctg	10	10	3	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr13:46923456G>C	ENST00000429979.1	-	12	2200	c.1596C>G	c.(1594-1596)atC>atG	p.I532M	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.I375M|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.I397M|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.I532M|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.I375M|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.I465M|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.I532M|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.I532M	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	532										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACAGCTTCTTGATATGGAAGA	0.428																																																	0													69	64	66					13																	46923456		2203	4300	6503	SO:0001583	missense	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1596C>G	13.37:g.46923456G>C	ENSP00000396935:p.Ile532Met		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.I532M	ENST00000429979.1	37	c.1596	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363682	0.41902	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.44083	0.99;0.93;0.99;0.99;0.93;1.01	5.16	4.3	0.51218	.	0.281889	0.30969	N	0.008507	T	0.32194	0.0821	L	0.33792	1.035	0.80722	D	1	B;B;P;B;B;P	0.46395	0.256;0.443;0.743;0.418;0.328;0.877	B;P;P;B;B;P	0.48627	0.326;0.525;0.45;0.305;0.237;0.584	T	0.09228	-1.0684	10	0.07644	T	0.81	-4.4385	7.2623	0.26209	0.0914:0.0:0.7373:0.1714	.	375;375;532;397;465;532	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	M	532;532;465;532;532;375;375;397	ENSP00000396935:I532M;ENSP00000368074:I532M;ENSP00000368061:I465M;ENSP00000374558:I532M;ENSP00000368064:I532M;ENSP00000437501:I397M	ENSP00000315633:I375M	I	-	3	3	KIAA0226L	45821457	0.994000	0.37717	0.998000	0.56505	0.847000	0.48162	0.157000	0.16402	2.578000	0.87016	0.558000	0.71614	ATC	KIAA0226L	-	NULL		0.428	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	G	NM_025113		46923456	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46923456	G	C	46923456	3	2	94	1	0	0	0	0	1	0	0	0	1724	1280	45	1	408	1	C13orf18	13	46923456	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	7658863	46923456	68246422	125	13510										
NALCN	259232	genome.wustl.edu	37	chr13	102047655	102047655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agtgctcgaaggtcattggcGtattcatacaaacagaaatg	10	7	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr13:102047655G>A	ENST00000251127.6	-	3	251	c.170C>T	c.(169-171)aCg>aTg	p.T57M	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T57M|NALCN_ENST00000376200.5_Missense_Mutation_p.T57M	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	57					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T57R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCATTGGCGTATTCATACA	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											154	118	130					13																	102047655		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.170C>T	13.37:g.102047655G>A	ENSP00000251127:p.Thr57Met		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.T57M	ENST00000251127.6	37	c.170	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387569	0.82902	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.97791	-4.54;-4.54;-4.54	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98516	1.0621	10	0.36615	T	0.2	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	57;57	F2Z323;Q8IZF0	.;NALCN_HUMAN	M	57	ENSP00000251127:T57M;ENSP00000365367:T57M;ENSP00000365373:T57M	ENSP00000251127:T57M	T	-	2	0	NALCN	100845656	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	ACG	NALCN	-	NULL		0.443	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		102047655	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102047655	G	A	102047655	3	1	94	1	0	0	0	0	1	0	0	0	10171	1145	40	2	5214	2	NALCN	13	102047655	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	55124199	102047655	13122223	126	13511										
TEP1	7011	genome.wustl.edu	37	chr14	20864069	20864069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aatggcatcatgggcgttaaGaaatctgaatggaaactgcc	11	7	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr14:20864069G>C	ENST00000262715.5	-	11	1739	c.1699C>G	c.(1699-1701)Ctt>Gtt	p.L567V	TEP1_ENST00000556935.1_Missense_Mutation_p.L459V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	567	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGCGTTAAGAAATCTGAAT	0.517																																																	0													130	126	127					14																	20864069		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1699C>G	14.37:g.20864069G>C	ENSP00000262715:p.Leu567Val		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L567V	ENST00000262715.5	37	c.1699	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324486	0.81580	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.36157	1.27;1.27	5.43	5.43	0.79202	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.67098	-0.5756	10	0.66056	D	0.02	-4.243	16.1484	0.81586	0.0:0.0:1.0:0.0	.	459;567	G3V5X7;Q99973	.;TEP1_HUMAN	V	567;567;459	ENSP00000262715:L567V;ENSP00000452574:L459V	ENSP00000262715:L567V	L	-	1	0	TEP1	19933909	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.548000	0.73896	2.541000	0.85698	0.655000	0.94253	CTT	TEP1	-	pfam_TROVE,pfscan_TROVE		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	G	NM_007110		20864069	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20864069	G	C	20864069	3	2	94	1	0	0	0	0	1	0	0	0	15789	942	33	1	6364	1	TEP1	14	20864069	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09		20864069	86485471	127	13512										
NIN	51199	genome.wustl.edu	37	chr14	51221467	51221467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtatacgtcttaccacatttCttcctgagatccatttaatg	5	10	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr14:51221467C>G	ENST00000382041.3	-	19	4847	c.4657G>C	c.(4657-4659)Gaa>Caa	p.E1553Q	NIN_ENST00000453196.1_Missense_Mutation_p.E1553Q|NIN_ENST00000245441.5_Missense_Mutation_p.E1553Q|NIN_ENST00000389868.3_Missense_Mutation_p.E840Q|NIN_ENST00000382043.4_Missense_Mutation_p.E840Q|NIN_ENST00000324330.9_Missense_Mutation_p.E1553Q|NIN_ENST00000530997.2_Missense_Mutation_p.E1553Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1553					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					taccacatttcttcctgagat	0.279			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													73	63	66					14																	51221467		2193	4284	6477	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4657G>C	14.37:g.51221467C>G	ENSP00000371472:p.Glu1553Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E1553Q	ENST00000382041.3	37	c.4657	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.41|10.41	1.343119|1.343119	0.24339|0.24339	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.19938|.	2.75;2.15;2.11;2.44;2.44;2.44|.	4.29|4.29	3.36|3.36	0.38483|0.38483	.|.	0.166603|.	0.51477|.	N|.	0.000094|.	T|T	0.54532|0.54532	0.1864|0.1864	M|M	0.66939|0.66939	2.045|2.045	0.30075|0.30075	N|N	0.809725|0.809725	B;B;B;B;P|.	0.38504|.	0.433;0.242;0.023;0.118;0.634|.	B;B;B;B;B|.	0.36989|.	0.238;0.077;0.012;0.111;0.215|.	T|T	0.54403|0.54403	-0.8299|-0.8299	10|5	0.54805|.	T|.	0.06|.	0.0304|0.0304	11.0679|11.0679	0.47987|0.47987	0.0:0.811:0.189:0.0|0.0:0.811:0.189:0.0	.|.	1559;1553;1553;840;1553|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	Q|T	1553;1536;840;840;1559;1553;1553;1553|1043	ENSP00000245441:E1553Q;ENSP00000374518:E840Q;ENSP00000371474:E840Q;ENSP00000371472:E1553Q;ENSP00000324210:E1553Q;ENSP00000412391:E1553Q|.	ENSP00000245441:E1553Q|.	E|R	-|-	1|2	0|0	NIN|NIN	50291217|50291217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.400000|2.400000	0.44504|0.44504	0.857000|0.857000	0.35407|0.35407	0.561000|0.561000	0.74099|0.74099	GAA|AGA	NIN	-	NULL		0.279	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51221467	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51221467	C	G	51221467	3	3	94	1	0	0	0	0	1	0	0	0	10441	922	32	1	1944	1	NIN	14	51221467	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	30357398	51221467	56128073	128	13513										
MAP3K9	4293	genome.wustl.edu	37	chr14	71199564	71199564	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agcgtgtggagttgcactcgGagatggaggagagggagagc	20	5	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr14:71199564G>C	ENST00000554752.2	-	11	2521	c.2522C>G	c.(2521-2523)tCc>tGc	p.S841C	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S855C|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S569C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S818C|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S574C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	841					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTGCACTCGGAGATGGAGGA	0.607																																					GBM(114;411 1587 13539 28235 50070)												0													61	56	58					14																	71199564		2202	4300	6502	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2522C>G	14.37:g.71199564G>C	ENSP00000451612:p.Ser841Cys		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.S855C	ENST00000554752.2	37	c.2564		14	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870841	0.72065	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.79749	-1.25;-1.3;-1.19;-1.28	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	L	0.57536	1.79	0.50467	D	0.999872	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.992;0.956;0.986;0.994	D	0.89127	0.3507	10	0.72032	D	0.01	.	17.9928	0.89174	0.0:0.0:1.0:0.0	.	569;841;855;574	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	C	841;855;574;818;569;557	ENSP00000451612:S841C;ENSP00000451038:S574C;ENSP00000370649:S818C;ENSP00000451921:S569C	ENSP00000005198:S855C	S	-	2	0	MAP3K9	70269317	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	4.624000	0.61254	2.478000	0.83669	0.561000	0.74099	TCC	MAP3K9	-	pirsf_MAPKKK9/10/11		0.607	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	G			71199564	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	0.998	C	C	71199564	G	C	71199564	3	2	94	1	0	0	0	0	1	0	0	0	9280	1174	41	1	800	1	MAP3K9	14	71199564	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	19978097	71199564	36149976	129	13514										
TRIP11	9321	genome.wustl.edu	37	chr14	92472576	92472576	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	taaattttctactttgtcctCaagtttctgcttggttaaat	5	7	3	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr14:92472576C>T	ENST00000267622.4	-	11	2117	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	582					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ACTTTGTCCTCAAGTTTCTGC	0.313			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													107	106	106					14																	92472576		2203	4297	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1744G>A	14.37:g.92472576C>T	ENSP00000267622:p.Glu582Lys		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E582K	ENST00000267622.4	37	c.1744	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770959	0.49680	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04194	3.68	5.9	3.93	0.45458	.	0.425152	0.27577	N	0.018760	T	0.10637	0.0260	M	0.70275	2.135	0.32033	N	0.599271	P;P	0.51351	0.944;0.905	P;P	0.50825	0.651;0.544	T	0.07693	-1.0759	10	0.15952	T	0.53	.	11.5978	0.50984	0.1148:0.5516:0.3336:0.0	.	318;582	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	582;318	ENSP00000267622:E582K	ENSP00000267622:E582K	E	-	1	0	TRIP11	91542329	1.000000	0.71417	0.346000	0.25655	0.290000	0.27261	1.854000	0.39368	1.455000	0.47813	0.650000	0.86243	GAG	TRIP11	-	NULL		0.313	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92472576	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.910	T	T	92472576	C	T	92472576	3	4	94	1	0	0	0	0	1	0	0	0	16586	835	29	1	4239	1	TRIP11	14	92472576	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	21273012	92472576	14876964	130	13515										
BEGAIN	57596	genome.wustl.edu	37	chr14	101012989	101012989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gcgcagctcgcccttctgctCctgcagcgcgctgcaacgac	11	18	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr14:101012989C>T	ENST00000355173.2	-	3	96	c.25G>A	c.(25-27)Gag>Aag	p.E9K	BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000443071.2_Missense_Mutation_p.E9K|BEGAIN_ENST00000556751.1_5'UTR	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	9						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.E9K(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCCTTCTGCTCCTGCAGCGCG	0.687																																					NSCLC(159;1889 2010 9965 27479 40101)												1	Substitution - Missense(1)	skin(1)											56	50	52					14																	101012989		2203	4300	6503	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.25G>A	14.37:g.101012989C>T	ENSP00000347301:p.Glu9Lys		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.E9K	ENST00000355173.2	37	c.25	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	c	13.20	2.165888	0.38217	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	4.48	3.59	0.41128	.	0.134693	0.49916	U	0.000136	T	0.26412	0.0645	L	0.56769	1.78	0.50039	D	0.99984	P	0.44139	0.827	B	0.41202	0.35	T	0.03773	-1.1005	10	0.62326	D	0.03	.	10.2243	0.43216	0.0:0.8999:0.0:0.1001	.	9	Q9BUH8	BEGIN_HUMAN	K	9;9;21;9;9;28	ENSP00000347301:E9K;ENSP00000411124:E9K;ENSP00000451397:E21K;ENSP00000452157:E9K;ENSP00000450722:E9K;ENSP00000451125:E28K	ENSP00000347301:E9K	E	-	1	0	BEGAIN	100082742	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	2.564000	0.45931	0.883000	0.36040	-0.370000	0.07254	GAG	BEGAIN	-	superfamily_Prefoldin		0.687	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	C	NM_020836		101012989	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101012989	C	T	101012989	3	4	94	1	0	0	0	0	1	0	0	0	1398	864	30	1	1776	1	BEGAIN	14	101012989	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	8540413	101012989	6336551	131	13516										
AHNAK2	113146	genome.wustl.edu	37	chr14	105408926	105408926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tttggcagtcatgtccttgtCggctagggacaggtcaccct	12	11	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr14:105408926C>A	ENST00000333244.5	-	7	12981	c.12862G>T	c.(12862-12864)Gac>Tac	p.D4288Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4288						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGTCCTTGTCGGCTAGGGAC	0.617																																																	0													206	220	215					14																	105408926		2018	4156	6174	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12862G>T	14.37:g.105408926C>A	ENSP00000353114:p.Asp4288Tyr		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D4288Y	ENST00000333244.5	37	c.12862	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	12.52	1.962700	0.34659	.	.	ENSG00000185567	ENST00000333244	T	0.01854	4.6	3.22	1.23	0.21249	.	.	.	.	.	T	0.13243	0.0321	M	0.93898	3.47	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.07635	-1.0762	9	0.62326	D	0.03	-12.5438	4.1603	0.10280	0.0:0.5572:0.2195:0.2233	.	4288	Q8IVF2	AHNK2_HUMAN	Y	4288	ENSP00000353114:D4288Y	ENSP00000353114:D4288Y	D	-	1	0	AHNAK2	104479971	0.655000	0.27376	0.006000	0.13384	0.007000	0.05969	0.878000	0.28126	0.305000	0.22832	0.289000	0.19496	GAC	AHNAK2	-	NULL		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105408926	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	A	A	105408926	C	A	105408926	3	1	94	1	0	0	0	0	1	0	0	0	415	884	31	3	4529	3	AHNAK2	14	105408926	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	4395937	105408926	1940614	132	13517										
EXD1	161829	genome.wustl.edu	37	chr15	41476476	41476477	+	Missense_Mutation	DNP	CC	CC	TT													0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atcctcactggtttccccttCctctgtgggaggtagatgtt							TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr15:41476476_41476477CC>TT	ENST00000314992.5	-	10	1387_1388	c.1197_1198GG>AA	c.(1195-1200)gaGGaa>gaAAaa	p.E400K	EXD1_ENST00000458580.2_Missense_Mutation_p.E458K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	400							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GTTTCCCCTTCCTCTGTGGGAG	0.406																																																	0																																										SO:0001583	missense	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1197_1198delinsTT	15.37:g.41476476_41476477delinsTT	ENSP00000321029:p.Glu400Lys		A8K909|B7Z839|Q6ZW94	Missense_Mutation|Silent	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.E400K|p.E399	ENST00000314992.5	37	c.1198|c.1197	CCDS10072.1	15																																																																																			EXD1	-	NULL		0.406	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	HGNC	protein_coding	OTTHUMT00000252553.2	C	NM_152596		41476476|41476477	-1	no_errors	ENST00000314992	ensembl	human	known	70_37	missense|silent	SNP	0.003|0.001	T	TT	41476477	CC	TT	41476476	3	4	94	1	0	0	0	0	1	0	0	0	5309	864	30	1	350	1	EXD1	15	41476476	Missense_Mutation	DNP	CC	TCGA-EK-A2H0-01A-11D-A17W-09		41476476	61054916	133	13518										
ALDH1A2	8854	genome.wustl.edu	37	chr15	58284946	58284946	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcttgtctatgccaatgtgaGaagctattgctgccccagcc	9	12	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr15:58284946G>C	ENST00000249750.4	-	7	1522	c.755C>G	c.(754-756)tCt>tGt	p.S252C	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.S231C|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.S156C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.S223C|ALDH1A2_ENST00000347587.3_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	252					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GCCAATGTGAGAAGCTATTGC	0.493																																																	0													105	101	102					15																	58284946		2192	4292	6484	SO:0001583	missense	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.755C>G	15.37:g.58284946G>C	ENSP00000249750:p.Ser252Cys		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S252C	ENST00000249750.4	37	c.755	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170789	0.78452	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000537372	T;T	0.17854	2.25;2.25	5.65	5.65	0.86999	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.108387	0.64402	D	0.000003	T	0.43500	0.1250	M	0.79805	2.47	0.43564	D	0.995888	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.60236	0.817;0.792;0.871	T	0.34254	-0.9836	10	0.87932	D	0	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	223;231;252	B4DH89;F5H2Y9;O94788	.;.;AL1A2_HUMAN	C	252;156;223;231	ENSP00000249750:S252C;ENSP00000438296:S231C	ENSP00000249750:S252C	S	-	2	0	ALDH1A2	56072238	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.364000	0.52328	2.941000	0.99782	0.655000	0.94253	TCT	ALDH1A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.493	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	G			58284946	-1	no_errors	ENST00000249750	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58284946	G	C	58284946	3	2	94	1	0	0	0	0	1	0	0	0	491	942	33	1	829	1	ALDH1A2	15	58284946	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	16808470	58284946	44246446	134	13519										
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157665	65157665	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atggcatggatgacagtcctGagcctgccaagccctctcag	11	13	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr15:65157665G>C	ENST00000323544.4	+	6	1179	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	351	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGACAGTCCTGAGCCTGCCAA	0.587																																																	0													68	68	68					15																	65157665		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1051G>C	15.37:g.65157665G>C	ENSP00000326706:p.Glu351Gln		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E351Q	ENST00000323544.4	37	c.1051	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885099	0.17540	.	.	ENSG00000241839	ENST00000323544	T	0.32272	1.46	5.42	3.51	0.40186	.	0.422191	0.24851	N	0.035088	T	0.20210	0.0486	L	0.29908	0.895	0.09310	N	1	B;B	0.30937	0.301;0.118	B;B	0.24974	0.057;0.026	T	0.17107	-1.0380	10	0.62326	D	0.03	.	9.0174	0.36179	0.0791:0.1462:0.7747:0.0	.	301;351	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	351	ENSP00000326706:E351Q	ENSP00000326706:E351Q	E	+	1	0	PLEKHO2	62944718	0.906000	0.30813	0.029000	0.17559	0.067000	0.16453	2.347000	0.44036	1.260000	0.44134	-0.175000	0.13238	GAG	PLEKHO2	-	NULL		0.587	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157665	1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.068	C	C	65157665	G	C	65157665	3	2	94	1	0	0	0	0	1	0	0	0	12109	1291	45	1	1073	1	PLEKHO2	15	65157665	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6872719	65157665	37373727	135	13520										
MEGF11	84465	genome.wustl.edu	37	chr15	66262906	66262906	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cttacctgtcccccatgtatCcagctgtacagtggcactgt	8	14	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr15:66262906C>G	ENST00000409699.2	-	8	1056	c.884G>C	c.(883-885)gGa>gCa	p.G295A	MEGF11_ENST00000395625.2_Missense_Mutation_p.G220A|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.G295A|MEGF11_ENST00000422354.1_Missense_Mutation_p.G295A|MEGF11_ENST00000288745.3_Missense_Mutation_p.G220A			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	295	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCCCATGTATCCAGCTGTACA	0.507																																																	0													134	98	110					15																	66262906		2201	4299	6500	SO:0001583	missense	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.884G>C	15.37:g.66262906C>G	ENSP00000386908:p.Gly295Ala		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.G295A	ENST00000409699.2	37	c.884	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501732	0.85176	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.73	4.73	0.59995	EGF-like, laminin (3);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.40222	U	0.001160	D	0.89487	0.6729	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93078	0.6489	10	0.87932	D	0	.	16.8657	0.86028	0.0:1.0:0.0:0.0	.	295;220	A6BM72;A6BM72-2	MEG11_HUMAN;.	A	295;220;295;220;295	ENSP00000386908:G295A;ENSP00000288745:G220A;ENSP00000414475:G295A;ENSP00000378987:G220A;ENSP00000353919:G295A	ENSP00000288745:G220A	G	-	2	0	MEGF11	64049960	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.411000	0.80078	2.452000	0.82932	0.462000	0.41574	GGA	MEGF11	-	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom		0.507	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	C	NM_032445		66262906	-1	no_errors	ENST00000409699	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66262906	C	G	66262906	3	3	94	1	0	0	0	0	1	0	0	0	9484	855	30	1	2314	1	MEGF11	15	66262906	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1105241	66262906	36268486	136	13521										
SCAPER	49855	genome.wustl.edu	37	chr15	76866515	76866515	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	acacctctttttccagtattCtagtgatctctcctagggtc	6	12	3	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr15:76866515C>G	ENST00000563290.1	-	23	2917	c.2822G>C	c.(2821-2823)aGa>aCa	p.R941T	SCAPER_ENST00000324767.7_Missense_Mutation_p.R941T|SCAPER_ENST00000538941.2_Missense_Mutation_p.R695T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	941						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCCAGTATTCTAGTGATCTC	0.393																																																	0													91	81	84					15																	76866515		1844	4091	5935	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2822G>C	15.37:g.76866515C>G	ENSP00000454973:p.Arg941Thr		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.R941T	ENST00000563290.1	37	c.2822	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934007	0.73442	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.46819	0.98;0.86	5.72	5.72	0.89469	.	0.101219	0.64402	D	0.000002	T	0.72479	0.3465	M	0.82823	2.61	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.74023	0.974;0.982	T	0.75941	-0.3140	10	0.87932	D	0	.	18.6448	0.91407	0.0:1.0:0.0:0.0	.	940;695	Q9BY12;F5H7X8	SCAPE_HUMAN;.	T	941;695;963	ENSP00000326924:R941T;ENSP00000442190:R695T	ENSP00000303560:R963T	R	-	2	0	SCAPER	74653570	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	6.886000	0.75611	2.698000	0.92095	0.455000	0.32223	AGA	SCAPER	-	NULL		0.393	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		76866515	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76866515	C	G	76866515	3	3	94	1	0	0	0	0	1	0	0	0	13908	913	32	1	1420	1	SCAPER	15	76866515	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	10603609	76866515	25664877	137	13522										
PDPK1	5170	genome.wustl.edu	37	chr16	2607870	2607870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gcctcggcccggcgccggctCcctgcagcatgcccagcctc	12	21	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr16:2607870C>T	ENST00000342085.4	+	2	340	c.191C>T	c.(190-192)tCc>tTc	p.S64F	RP11-20I23.13_ENST00000563449.2_RNA|PDPK1_ENST00000268673.7_Missense_Mutation_p.S64F|PDPK1_ENST00000389224.3_Missense_Mutation_p.S37F|PDPK1_ENST00000354836.5_Missense_Mutation_p.S64F|PDPK1_ENST00000441549.3_Missense_Mutation_p.S64F|RP11-20I23.11_ENST00000569220.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	64					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GGCGCCGGCTCCCTGCAGCAT	0.667																																																	0													8	10	10					16																	2607870		1430	3003	4433	SO:0001583	missense	5170			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"PkB kinase"	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.191C>T	16.37:g.2607870C>T	ENSP00000344220:p.Ser64Phe		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S64F	ENST00000342085.4	37	c.191	CCDS10472.1	16	.	.	.	.	.	.	.	.	.	.	C	8.551	0.875577	0.17395	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.72394	-0.65;0.91;-0.15;-0.63	4.36	3.38	0.38709	.	0.304109	0.31922	N	0.006855	T	0.60766	0.2294	L	0.29908	0.895	0.09310	N	0.999999	P;P;P;B;B	0.41748	0.761;0.641;0.736;0.115;0.303	B;B;P;B;B	0.44477	0.365;0.135;0.451;0.143;0.172	T	0.50717	-0.8795	10	0.21014	T	0.42	-0.2606	12.1786	0.54199	0.1724:0.8276:0.0:0.0	.	37;102;37;64;64	Q6A1A2;Q59EH6;E3W993;O15530-4;O15530	PDPK2_HUMAN;.;.;.;PDPK1_HUMAN	F	64;102;64;64;37	ENSP00000344220:S64F;ENSP00000268673:S64F;ENSP00000346895:S64F;ENSP00000373876:S37F	ENSP00000268673:S64F	S	+	2	0	PDPK1	2547871	0.021000	0.18746	0.016000	0.15963	0.367000	0.29736	2.681000	0.46926	0.804000	0.34136	0.543000	0.68304	TCC	PDPK1	-	NULL		0.667	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	C			2607870	1	no_errors	ENST00000342085	ensembl	human	known	70_37	missense	SNP	0.275	T	T	2607870	C	T	2607870	3	4	94	1	0	0	0	0	1	0	0	0	11711	855	30	1	197	1	PDPK1	16	2607870	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		2607870	87746883	138	13523										
UBFD1	56061	genome.wustl.edu	37	chr16	23570965	23570965	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agcaggatgcaaaggccgaaGagaacaagaaggagcctctc	13	9	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr16:23570965G>T	ENST00000395878.3	+	3	913	c.532G>T	c.(532-534)Gag>Tag	p.E178*	EARS2_ENST00000564501.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000219638.4_Nonsense_Mutation_p.E402*|UBFD1_ENST00000567212.1_Nonsense_Mutation_p.E169*|UBFD1_ENST00000567264.1_Nonsense_Mutation_p.E178*	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	178							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAAGGCCGAAGAGAACAAGAA	0.507																																					Melanoma(22;290 1069 22358 48158)												0													50	51	50					16																	23570965		1906	4118	6024	SO:0001587	stop_gained	56061			AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.532G>T	16.37:g.23570965G>T	ENSP00000379217:p.Glu178*		A8MW58|D3DWF2	Nonsense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E402*	ENST00000395878.3	37	c.1204	CCDS10613.2	16	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819475	0.90873	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-10.6017	17.6813	0.88243	0.0:0.0:1.0:0.0	.	.	.	.	X	402;178;55	.	ENSP00000219638:E402X	E	+	1	0	UBFD1	23478466	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.020000	0.93667	2.404000	0.81709	0.557000	0.71058	GAG	UBFD1	-	NULL		0.507	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000250795.2	G	NM_019116		23570965	1	no_errors	ENST00000219638	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	23570965	G	T	23570965	4	4	94	1	0	0	0	0	0	1	0	0	16915	943	33	3	542	3	UBFD1	16	23570965	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	20963095	23570965	66783788	139	13524										
CORO1A	11151	genome.wustl.edu	37	chr16	30198163	30198163	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gagatcccagatgggggcctGatgctgcccctgcgggagcc	16	13	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr16:30198163G>C	ENST00000219150.5	+	4	653	c.348G>C	c.(346-348)ctG>ctC	p.L116L	CORO1A_ENST00000565497.1_Silent_p.L116L|CORO1A_ENST00000570045.1_Silent_p.L116L|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	116					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ATGGGGGCCTGATGCTGCCCC	0.647																																																	0													26	31	29					16																	30198163		2197	4299	6496	SO:0001819	synonymous_variant	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.348G>C	16.37:g.30198163G>C			B2RBL1|Q2YD73	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L116	ENST00000219150.5	37	c.348	CCDS10673.1	16																																																																																			CORO1A	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.647	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1A	HGNC	protein_coding	OTTHUMT00000255195.2	G	NM_007074		30198163	1	no_errors	ENST00000219150	ensembl	human	known	70_37	silent	SNP	0.598	C	C	30198163	G	C	30198163	2	2	94	1	0	0	0	0	0	0	0	1	3758	1277	45	1		1	CORO1A	16	30198163	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	6627198	30198163	60156590	140	13525										
ZNF48	197407	genome.wustl.edu	37	chr16	30409622	30409622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccgcccgagtcaaacacctcCgcacccacagtggcgagagg	11	17	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr16:30409622C>T	ENST00000320159.2	+	2	1427	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	351				R -> H (in Ref. 2; AAH41388). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CAAACACCTCCGCACCCACAG	0.652																																																	0													98	71	80					16																	30409622		2197	4300	6497	SO:0001583	missense	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1051C>T	16.37:g.30409622C>T	ENSP00000324056:p.Arg351Cys		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R351C	ENST00000320159.2	37	c.1051	CCDS10679.1	16	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773636	0.49786	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.25749	1.78	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000857	T	0.58163	0.2103	M	0.94101	3.495	0.38501	D	0.948237	D	0.89917	1.0	D	0.74348	0.983	T	0.69811	-0.5044	10	0.87932	D	0	-17.359	10.736	0.46126	0.1897:0.8103:0.0:0.0	.	351	Q96MX3	ZNF48_HUMAN	C	476;351	ENSP00000324056:R351C	ENSP00000324056:R351C	R	+	1	0	ZNF48	30317123	0.004000	0.15560	1.000000	0.80357	0.868000	0.49771	0.684000	0.25364	2.575000	0.86900	0.460000	0.39030	CGC	ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409622	1	no_errors	ENST00000320159	ensembl	human	known	70_37	missense	SNP	0.977	T	T	30409622	C	T	30409622	3	4	94	1	0	0	0	0	1	0	0	0	17964	652	23	2	1057	2	ZNF48	16	30409622	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	211459	30409622	59945131	141	13526										
ZNF423	23090	genome.wustl.edu	37	chr16	49671713	49671713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ttgaggttgtagagggtgggCatggagtccaggcagatctg	18	5	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr16:49671713C>T	ENST00000561648.1	-	4	1403	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	ZNF423_ENST00000262383.2_Missense_Mutation_p.M450I|ZNF423_ENST00000563137.2_Missense_Mutation_p.M390I|ZNF423_ENST00000562871.1_Missense_Mutation_p.M390I|ZNF423_ENST00000567169.1_Missense_Mutation_p.M333I|ZNF423_ENST00000535559.1_Missense_Mutation_p.M333I|ZNF423_ENST00000562520.1_Missense_Mutation_p.M390I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	450					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGAGGGTGGGCATGGAGTCCA	0.567																																																	0													147	127	134					16																	49671713		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1350G>A	16.37:g.49671713C>T	ENSP00000455426:p.Met450Ile		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M450I	ENST00000561648.1	37	c.1350	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057096	0.36277	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27256	1.68;1.68	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.170968	0.56097	D	0.000038	T	0.14960	0.0361	N	0.08118	0	0.51482	D	0.999925	B	0.14012	0.009	B	0.09377	0.004	T	0.09707	-1.0662	9	.	.	.	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	450	Q2M1K9	ZN423_HUMAN	I	450;333	ENSP00000262383:M450I;ENSP00000442321:M333I	.	M	-	3	0	ZNF423	48229214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.757000	0.68766	2.346000	0.79739	0.561000	0.74099	ATG	ZNF423	-	smart_Znf_C2H2-like		0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	C	NM_015069		49671713	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49671713	C	T	49671713	3	4	94	1	0	0	0	0	1	0	0	0	17928	710	25	4	2524	4	ZNF423	16	49671713	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	19262091	49671713	40683040	142	13527										
PAFAH1B1	5048	genome.wustl.edu	37	chr17	2570453	2570453	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtcattttccatcctgtgttCagtgttatggtctctgcttc	8	10	3	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:2570453C>T	ENST00000397195.5	+	5	811	c.360C>T	c.(358-360)ttC>ttT	p.F120F	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						ATCCTGTGTTCAGTGTTATGG	0.453																																																	0													107	97	100					17																	2570453		2203	4300	6503	SO:0001819	synonymous_variant	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.360C>T	17.37:g.2570453C>T				Silent	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F120	ENST00000397195.5	37	c.360	CCDS32528.1	17																																																																																			PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	C	NM_000430		2570453	1	no_errors	ENST00000397195	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2570453	C	T	2570453	2	4	94	1	0	0	0	0	0	0	0	1	11408	825	29	1		1	PAFAH1B1	17	2570453	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		2570453	78624757	143	13528										
KSR1	8844	genome.wustl.edu	37	chr17	25932744	25932744	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gaccacctgaagctcttcaaGaaagaggtgatgaactaccg	10	10	2	5			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:25932744G>C	ENST00000319524.6	+	15	1965	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N	KSR1_ENST00000268763.6_Missense_Mutation_p.K518N|KSR1_ENST00000398988.3_Missense_Mutation_p.K518N|KSR1_ENST00000509603.2_Missense_Mutation_p.K633N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGCTCTTCAAGAAAGAGGTGA	0.637																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													20	22	21					17																	25932744		2043	4184	6227	SO:0001583	missense	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1965G>C	17.37:g.25932744G>C	ENSP00000323178:p.Lys655Asn		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K655N	ENST00000319524.6	37	c.1965		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.063571|4.063571	0.76187|0.76187	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000398988|ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	.|D;D;D	.|0.82619	.|-1.63;-1.63;-1.63	5.67|5.67	4.7|4.7	0.59300|0.59300	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90625|0.90625	0.7060|0.7060	M|M	0.85299|0.85299	2.745|2.745	0.58432|0.58432	D|D	0.999995|0.999995	.|D;B	.|0.89917	.|1.0;0.128	.|D;B	.|0.87578	.|0.998;0.146	D|D	0.91095|0.91095	0.4910|0.4910	5|10	.|0.87932	.|D	.|0	.|.	9.5277|9.5277	0.39173|0.39173	0.2212:0.0:0.7788:0.0|0.2212:0.0:0.7788:0.0	.|.	.|653;633	.|Q8IVT5;F5H0K8	.|KSR1_HUMAN;.	Q|N	369|655;633;518;518	.|ENSP00000323178:K655N;ENSP00000438795:K633N;ENSP00000268763:K518N	.|ENSP00000268763:K518N	E|K	+|+	1|3	0|2	KSR1|KSR1	22956871|22956871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.736000|2.736000	0.47385|0.47385	1.395000|1.395000	0.46643|0.46643	0.655000|0.655000	0.94253|0.94253	GAA|AAG	KSR1	-	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,pfscan_Prot_kinase_cat_dom		0.637	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		G	NM_014238		25932744	1	no_errors	ENST00000319524	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25932744	G	C	25932744	3	2	94	1	0	0	0	0	1	0	0	0	8601	933	33	1	1600	1	KSR1	17	25932744	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	23362291	25932744	55262466	144	13529										
ZNF830	91603	genome.wustl.edu	37	chr17	33288933	33288933	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gaccaagatgtcaagagagcGaaggccaccttggtgcctca	12	11	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:33288933G>A	ENST00000361952.3	+	1	385	c.348G>A	c.(346-348)gcG>gcA	p.A116A	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	116					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TCAAGAGAGCGAAGGCCACCT	0.567																																																	0													87	87	87					17																	33288933		2203	4300	6503	SO:0001819	synonymous_variant	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.348G>A	17.37:g.33288933G>A			Q96F60|Q96GZ5|Q9BU38	Silent	SNP	smart_Znf_U1	p.A116	ENST00000361952.3	37	c.348	CCDS32618.1	17																																																																																			ZNF830	-	NULL		0.567	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF830	HGNC	protein_coding	OTTHUMT00000448018.1	G	NM_052857		33288933	1	no_errors	ENST00000361952	ensembl	human	known	70_37	silent	SNP	0.909	A	A	33288933	G	A	33288933	2	1	94	1	0	0	0	0	0	0	0	1	18214	1045	37	1		1	ZNF830	17	33288933	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	7356189	33288933	47906277	145	13530										
SLFN13	146857	genome.wustl.edu	37	chr17	33767735	33767735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctatgctcctttccaggcctGagaatcgccggacactgtcc	9	15	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:33767735G>A	ENST00000285013.6	-	6	2848	c.2573C>T	c.(2572-2574)tCa>tTa	p.S858L	SLFN13_ENST00000534689.1_Missense_Mutation_p.S540L|SLFN13_ENST00000360502.2_Missense_Mutation_p.S540L|SLFN13_ENST00000526861.1_Missense_Mutation_p.S858L|SLFN13_ENST00000542635.1_Missense_Mutation_p.S858L|SLFN13_ENST00000533791.1_Missense_Mutation_p.S858L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	858						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.S858L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCCAGGCCTGAGAATCGCCG	0.488																																																	1	Substitution - Missense(1)	lung(1)											233	204	214					17																	33767735		2203	4300	6503	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2573C>T	17.37:g.33767735G>A	ENSP00000285013:p.Ser858Leu		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S858L	ENST00000285013.6	37	c.2573	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	g	24.4	4.531660	0.85706	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	3.27	2.28	0.28536	.	0.000000	0.38837	N	0.001555	D	0.89058	0.6607	M	0.84948	2.725	0.29484	N	0.856134	P;D	0.57899	0.836;0.981	P;D	0.67231	0.609;0.95	T	0.83015	-0.0170	10	0.87932	D	0	.	6.3126	0.21173	0.1453:0.0:0.8547:0.0	.	540;858	Q68D06-2;Q68D06	.;SLN13_HUMAN	L	858;540;858;858;540	ENSP00000285013:S858L;ENSP00000353692:S540L;ENSP00000434439:S858L;ENSP00000444016:S858L;ENSP00000435442:S540L	ENSP00000285013:S858L	S	-	2	0	SLFN13	30791848	1.000000	0.71417	0.892000	0.35008	0.932000	0.56968	4.118000	0.57884	0.686000	0.31488	0.407000	0.27541	TCA	SLFN13	-	NULL		0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	G	NM_144682		33767735	-1	no_errors	ENST00000285013	ensembl	human	known	70_37	missense	SNP	0.926	A	A	33767735	G	A	33767735	3	1	94	1	0	0	0	0	1	0	0	0	14766	1294	45	1	124	1	SLFN13	17	33767735	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	478802	33767735	47427475	146	13531										
STAC2	342667	genome.wustl.edu	37	chr17	37368565	37368565	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcagatctcagtcagggcgtCgactggcaccaggccccgct	12	15	3	1	rs571015047		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:37368565C>G	ENST00000333461.5	-	11	1585	c.1216G>C	c.(1216-1218)Gac>Cac	p.D406H		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	406					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GTCAGGGCGTCGACTGGCACC	0.627																																																	0													62	57	59					17																	37368565		2203	4300	6503	SO:0001583	missense	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1216G>C	17.37:g.37368565C>G	ENSP00000327509:p.Asp406His		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.D406H	ENST00000333461.5	37	c.1216	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	N	19.43	3.825893	0.71143	.	.	ENSG00000141750	ENST00000333461	D	0.81908	-1.55	4.56	2.5	0.30297	Src homology-3 domain (1);	0.323017	0.31020	N	0.008419	T	0.79992	0.4542	L	0.52905	1.665	0.45777	D	0.998662	P	0.43477	0.808	P	0.44897	0.463	T	0.77515	-0.2559	10	0.87932	D	0	-18.1804	8.4941	0.33117	0.152:0.7642:0.0:0.0838	.	406	Q6ZMT1	STAC2_HUMAN	H	406	ENSP00000327509:D406H	ENSP00000327509:D406H	D	-	1	0	STAC2	34622091	0.983000	0.35010	0.989000	0.46669	0.988000	0.76386	1.600000	0.36762	0.359000	0.24239	0.555000	0.69702	GAC	STAC2	-	superfamily_SH3_domain		0.627	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	C	NM_198993		37368565	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	missense	SNP	0.997	G	G	37368565	C	G	37368565	3	3	94	1	0	0	0	0	1	0	0	0	15270	884	31	1	23	1	STAC2	17	37368565	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	3600830	37368565	43826645	147	13532										
NR1D1	7067	genome.wustl.edu	37	chr17	38249337	38249337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agaaggccggccgggcgggtCactgggcgtccacccggaag	18	13	1	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:38249337C>T	ENST00000264637.4	+	10	1755	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	THRA_ENST00000394121.4_Missense_Mutation_p.S392L|THRA_ENST00000584985.1_Intron|NR1D1_ENST00000246672.3_Silent_p.*615*	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	392					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCGGGCGGGTCACTGGGCGTC	0.582																																																	0													46	50	48					17																	38249337		2203	4300	6503	SO:0001583	missense	7067			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1175C>T	17.37:g.38249337C>T	ENSP00000264637:p.Ser392Leu		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S392L	ENST00000264637.4	37	c.1175	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046832	0.36085	.	.	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.93247	-3.19;-3.19	5.05	5.05	0.67936	.	0.353444	0.25786	N	0.028302	D	0.87489	0.6190	.	.	.	0.80722	D	1	P	0.34662	0.462	B	0.22386	0.039	D	0.85930	0.1451	8	.	.	.	.	15.9565	0.79891	0.0:1.0:0.0:0.0	.	392	P10827	THA_HUMAN	L	392	ENSP00000377679:S392L;ENSP00000264637:S392L	.	S	+	2	0	THRA	35502863	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.429000	0.21412	2.618000	0.88619	0.563000	0.77884	TCA	THRA	-	NULL		0.582	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	C			38249337	1	no_errors	ENST00000264637	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38249337	C	T	38249337	3	4	94	1	0	0	0	0	1	0	0	0	10639	838	29	1	4	1	NR1D1	17	38249337	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	880772	38249337	42945873	148	13533										
HEXIM1	10614	genome.wustl.edu	37	chr17	43226812	43226812	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgtccagaatctagctgcctGagagagggcgagaagggcca	15	9	1	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:43226812G>C	ENST00000332499.2	+	1	2129	c.255G>C	c.(253-255)ctG>ctC	p.L85L	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	85					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTAGCTGCCTGAGAGAGGGCG	0.692											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	19	18					17																	43226812		2201	4299	6500	SO:0001819	synonymous_variant	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.255G>C	17.37:g.43226812G>C		914	B2R8Y5	Silent	SNP	NULL	p.L85	ENST00000332499.2	37	c.255	CCDS11495.1	17																																																																																			HEXIM1	-	NULL		0.692	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM1	HGNC	protein_coding	OTTHUMT00000449821.2	G	NM_006460		43226812	1	no_errors	ENST00000332499	ensembl	human	known	70_37	silent	SNP	0.705	C	C	43226812	G	C	43226812	2	2	94	1	0	0	0	0	0	0	0	1	7096	1277	45	1		1	HEXIM1	17	43226812	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	4977475	43226812	37968398	149	13534										
HEXIM1	10614	genome.wustl.edu	37	chr17	43226833	43226833	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agagagggcgagaagggccaGaatggggacgactcgtccgc	18	9	0	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:43226833G>C	ENST00000332499.2	+	1	2150	c.276G>C	c.(274-276)caG>caC	p.Q92H	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	92					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAAGGGCCAGAATGGGGACG	0.682											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													13	15	14					17																	43226833		2197	4297	6494	SO:0001583	missense	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.276G>C	17.37:g.43226833G>C	ENSP00000328773:p.Gln92His	914	B2R8Y5	Missense_Mutation	SNP	NULL	p.Q92H	ENST00000332499.2	37	c.276	CCDS11495.1	17	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267419	0.23136	.	.	ENSG00000186834	ENST00000332499	.	.	.	3.98	3.0	0.34707	.	1.197490	0.06193	N	0.681785	T	0.39545	0.1082	L	0.44542	1.39	0.28905	N	0.893052	B	0.02656	0.0	B	0.06405	0.002	T	0.31724	-0.9933	9	0.15499	T	0.54	-8.3343	8.7558	0.34645	0.0:0.0:0.774:0.226	.	92	O94992	HEXI1_HUMAN	H	92	.	ENSP00000328773:Q92H	Q	+	3	2	HEXIM1	40582616	0.998000	0.40836	1.000000	0.80357	0.823000	0.46562	1.856000	0.39389	0.887000	0.36136	0.561000	0.74099	CAG	HEXIM1	-	NULL		0.682	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM1	HGNC	protein_coding	OTTHUMT00000449821.2	G	NM_006460		43226833	1	no_errors	ENST00000332499	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43226833	G	C	43226833	3	2	94	1	0	0	0	0	1	0	0	0	7096	933	33	1	278	1	HEXIM1	17	43226833	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	21	43226833	37968377	150	13535										
GIP	2695	genome.wustl.edu	37	chr17	47044545	47044545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tcttctctcctagtcccactGccaggaacagggacagcagc	9	15	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:47044545G>A	ENST00000357424.2	-	2	150	c.50C>T	c.(49-51)gCa>gTa	p.A17V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	17					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						TAGTCCCACTGCCAGGAACAG	0.522																																																	0													117	108	111					17																	47044545		2203	4300	6503	SO:0001583	missense	2695				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"Endogenous ligands"	4270	protein-coding gene	gene with protein product	"glucose-dependent insulinotropic polypeptide"	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.50C>T	17.37:g.47044545G>A	ENSP00000350005:p.Ala17Val		Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.A17V	ENST00000357424.2	37	c.50	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128353	0.37533	.	.	ENSG00000159224	ENST00000357424	T	0.28454	1.61	5.15	4.16	0.48862	.	0.125926	0.36815	N	0.002389	T	0.17408	0.0418	N	0.14661	0.345	0.32542	N	0.533542	D	0.56968	0.978	P	0.47134	0.539	T	0.04635	-1.0937	10	0.02654	T	1	-6.1934	9.8287	0.40928	0.0955:0.0:0.9045:0.0	.	17	P09681	GIP_HUMAN	V	17	ENSP00000350005:A17V	ENSP00000350005:A17V	A	-	2	0	GIP	44399544	0.954000	0.32549	0.968000	0.41197	0.882000	0.50991	1.561000	0.36342	2.680000	0.91292	0.643000	0.83706	GCA	GIP	-	NULL		0.522	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	G	NM_004123		47044545	-1	no_errors	ENST00000357424	ensembl	human	known	70_37	missense	SNP	0.923	A	A	47044545	G	A	47044545	3	1	94	1	0	0	0	0	1	0	0	0	6410	1319	46	4	431	4	GIP	17	47044545	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	3817712	47044545	34150665	151	13536										
ABCC3	8714	genome.wustl.edu	37	chr17	48742570	48742570	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atggtcttgctgattccactCaacggagctgtggccgtgaa	12	10	2	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:48742570C>G	ENST00000285238.8	+	11	1475	c.1395C>G	c.(1393-1395)ctC>ctG	p.L465L	ABCC3_ENST00000427699.1_Silent_p.L465L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	465	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGATTCCACTCAACGGAGCTG	0.602																																																	0													147	108	121					17																	48742570		2203	4300	6503	SO:0001819	synonymous_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1395C>G	17.37:g.48742570C>G			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	NULL	p.Q484E	ENST00000285238.8	37	c.1450	CCDS32681.1	17																																																																																			ABCC3	-	NULL		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48742570	1	no_errors	ENST00000502426	ensembl	human	known	70_37	missense	SNP	0.951	G	G	48742570	C	G	48742570	2	3	94	1	0	0	0	0	0	0	0	1	54	813	29	1		1	ABCC3	17	48742570	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1698025	48742570	32452640	152	13537										
PPM1E	4591	genome.wustl.edu	37	chr17	57057649	57057649	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	attggacagagaactcttttCaaggagggcaagaagatggt	13	5	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr17:57057649C>G	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.Q509E	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAACTCTTTTCAAGGAGGGCA	0.483									Mulibrey Nanism																																								0													120	116	117					17																	57057649		2203	4300	6503	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057649C>G			Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.Q509E	ENST00000393066.3	37	c.1525	CCDS45746.1	17	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505504	0.26949	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.17370	2.28	5.71	4.73	0.59995	.	0.596797	0.18726	N	0.132881	T	0.12518	0.0304	N	0.24115	0.695	0.24889	N	0.992173	B;B	0.13594	0.008;0.008	B;B	0.11329	0.006;0.006	T	0.16394	-1.0404	10	0.40728	T	0.16	-7.0686	11.3897	0.49806	0.142:0.7214:0.1366:0.0	.	518;509	Q8WY54-3;Q8WY54-2	.;.	E	509;360	ENSP00000312411:Q509E	ENSP00000312411:Q509E	Q	+	1	0	PPM1E	54412431	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.023000	0.30065	1.412000	0.46977	0.491000	0.48974	CAA	PPM1E	-	NULL		0.483	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445928.1	C	NM_015294		57057649	1	no_errors	ENST00000308249	ensembl	human	known	70_37	missense	SNP	0.987	G	G	57057649	C	G	57057649	1	3	94	0	1	0	0	0	0	0	0	0	12365	827	29	1		1	PPM1E	17	57057649	IGR	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	8315079	57057649	24137561	153	13538										
ZNF555	148254	genome.wustl.edu	37	chr19	2851618	2851618	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gggacagtcttagcatcgaaGatcaaaccacaaaccagggg	11	10	2	1	rs202164293		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:2851618G>C	ENST00000334241.4	+	3	421	c.283G>C	c.(283-285)Gat>Cat	p.D95H	ZNF555_ENST00000591539.1_Missense_Mutation_p.D95H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCATCGAAGATCAAACCAC	0.393																																																	0													56	57	56					19																	2851618		2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.283G>C	19.37:g.2851618G>C	ENSP00000334853:p.Asp95His		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D95H	ENST00000334241.4	37	c.283	CCDS12096.1	19	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258286	0.23051	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.06849	3.25	3.26	-0.572	0.11745	.	.	.	.	.	T	0.12561	0.0305	L	0.52011	1.625	0.09310	N	1	D;B	0.89917	1.0;0.042	D;B	0.65573	0.936;0.017	T	0.27673	-1.0067	9	0.12766	T	0.61	.	0.8172	0.01105	0.2376:0.1816:0.396:0.1848	.	95;95	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	95	ENSP00000334853:D95H	ENSP00000334853:D95H	D	+	1	0	ZNF555	2802618	0.996000	0.38824	0.044000	0.18714	0.020000	0.10135	1.351000	0.34022	0.076000	0.16826	0.555000	0.69702	GAT	ZNF555	-	NULL		0.393	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	G	NM_152791		2851618	1	no_errors	ENST00000334241	ensembl	human	known	70_37	missense	SNP	0.119	C	C	2851618	G	C	2851618	3	2	94	1	0	0	0	0	1	0	0	0	18016	942	33	1	293	1	ZNF555	19	2851618	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09		2851618	56277365	154	13539										
ANKRD24	170961	genome.wustl.edu	37	chr19	4216286	4216286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tgcgtccccctccaggggccGaggtgctgctgtccagacaa	13	15	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:4216286G>A	ENST00000600132.1	+	17	1552	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E516K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E426K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	426										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCAGGGGCCGAGGTGCTGCT	0.667																																																	0													15	16	16					19																	4216286		1911	4059	5970	SO:0001583	missense	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1276G>A	19.37:g.4216286G>A	ENSP00000471252:p.Glu426Lys		O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E426K	ENST00000600132.1	37	c.1276	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	g	15.92	2.975151	0.53720	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.43688	1.18;0.94	4.58	3.5	0.40072	.	.	.	.	.	T	0.25382	0.0617	L	0.29908	0.895	0.28756	N	0.901195	P;P	0.50710	0.897;0.938	B;B	0.34038	0.084;0.174	T	0.06303	-1.0834	9	0.42905	T	0.14	-5.7614	9.6147	0.39685	0.0:0.0:0.7904:0.2096	.	426;516	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	K	426;516	ENSP00000321731:E426K;ENSP00000262970:E516K	ENSP00000262970:E516K	E	+	1	0	ANKRD24	4167286	1.000000	0.71417	0.220000	0.23810	0.043000	0.13939	6.731000	0.74785	0.870000	0.35726	0.313000	0.20887	GAG	ANKRD24	-	NULL		0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	G	XM_114000		4216286	1	no_errors	ENST00000318934	ensembl	human	known	70_37	missense	SNP	0.820	A	A	4216286	G	A	4216286	3	1	94	1	0	0	0	0	1	0	0	0	653	1059	37	1	1338	1	ANKRD24	19	4216286	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	1364668	4216286	54912697	155	13540										
CD70	970	genome.wustl.edu	37	chr19	6586411	6586411	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gtatagcctggggtcctgctGaggtcctgggggcacagggt	18	9	0	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:6586411G>A	ENST00000245903.3	-	3	351	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CD70_ENST00000423145.3_Nonsense_Mutation_p.Q68*	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	68					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GGGTCCTGCTGAGGTCCTGGG	0.582																																					Pancreas(183;2617 2876 10173 34193)												0													24	23	24					19																	6586411		2203	4299	6502	SO:0001587	stop_gained	970			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11937	protein-coding gene	gene with protein product		602840	"tumor necrosis factor (ligand) superfamily, member 7"	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.202C>T	19.37:g.6586411G>A	ENSP00000245903:p.Gln68*		B4DPR8|Q53XX4|Q96J57	Nonsense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.Q68*	ENST00000245903.3	37	c.202	CCDS12170.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.695831	0.96802	.	.	ENSG00000125726	ENST00000423145;ENST00000245903	.	.	.	3.8	3.8	0.43715	.	0.321062	0.22539	N	0.058749	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-42.3434	11.3198	0.49415	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000245903:Q68X	Q	-	1	0	CD70	6537411	0.022000	0.18835	0.120000	0.21714	0.987000	0.75469	1.538000	0.36094	2.127000	0.65507	0.556000	0.70494	CAG	CD70	-	superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF		0.582	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD70	HGNC	protein_coding	OTTHUMT00000457860.1	G			6586411	-1	no_errors	ENST00000245903	ensembl	human	known	70_37	nonsense	SNP	0.084	A	A	6586411	G	A	6586411	4	1	94	1	0	0	0	0	0	1	0	0	3038	1299	45	1	383	1	CD70	19	6586411	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	2370125	6586411	52542572	156	13541										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8657677	8657677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	atggtgtgcgtctggcacagCgtgccctcggcggccgggat	17	12	1	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:8657677C>T	ENST00000597188.1	-	13	1827	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	ADAMTS10_ENST00000595838.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.T519T	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	519	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCTGGCACAGCGTGCCCTCGG	0.706																																																	0													35	32	33					19																	8657677		2202	4297	6499	SO:0001819	synonymous_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1557G>A	19.37:g.8657677C>T			M0QZE4	Silent	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T519	ENST00000597188.1	37	c.1557	CCDS12206.1	19																																																																																			ADAMTS10	-	NULL		0.706	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	C	NM_030957		8657677	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	silent	SNP	0.999	T	T	8657677	C	T	8657677	2	4	94	1	0	0	0	0	0	0	0	1	256	755	27	2		2	ADAMTS10	19	8657677	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	2071266	8657677	50471306	157	13542										
COL5A3	50509	genome.wustl.edu	37	chr19	10107297	10107297	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	catctccttcttaccggcatCatgatcacagtgcccggtgg	9	14	4	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:10107297C>G	ENST00000264828.3	-	12	1417	c.1332G>C	c.(1330-1332)atG>atC	p.M444I	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	444	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTACCGGCATCATGATCACAG	0.627																																																	0													56	54	55					19																	10107297		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1332G>C	19.37:g.10107297C>G	ENSP00000264828:p.Met444Ile		Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.M444I	ENST00000264828.3	37	c.1332	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051079	0.55218	.	.	ENSG00000080573	ENST00000264828	D	0.89617	-2.54	5.12	4.02	0.46733	.	0.059938	0.64402	U	0.000004	D	0.84772	0.5546	M	0.64997	1.995	0.44780	D	0.997788	B	0.22276	0.067	B	0.18871	0.023	T	0.78924	-0.2012	10	0.18710	T	0.47	.	10.7782	0.46363	0.0:0.8082:0.1918:0.0	.	444	P25940	CO5A3_HUMAN	I	444	ENSP00000264828:M444I	ENSP00000264828:M444I	M	-	3	0	COL5A3	9968297	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.610000	0.61155	2.406000	0.81754	0.655000	0.94253	ATG	COL5A3	-	NULL		0.627	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	C	NM_015719		10107297	-1	no_errors	ENST00000264828	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10107297	C	G	10107297	3	3	94	1	0	0	0	0	1	0	0	0	3703	826	29	1	4129	1	COL5A3	19	10107297	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1449620	10107297	49021686	158	13543										
ZNF627	199692	genome.wustl.edu	37	chr19	11727567	11727567	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggtcaaggtgaagaaaccttCagccagattccagatggtat	11	8	2	4			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:11727567C>T	ENST00000361113.5	+	4	457	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AAGAAACCTTCAGCCAGATTC	0.393																																					Melanoma(112;173 1614 10731 17751 23322)												0													88	85	86					19																	11727567		1913	4142	6055	SO:0001819	synonymous_variant	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.249C>T	19.37:g.11727567C>T			O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F83	ENST00000361113.5	37	c.249	CCDS42502.1	19																																																																																			ZNF627	-	NULL		0.393	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1	C	NM_145295		11727567	1	no_errors	ENST00000361113	ensembl	human	known	70_37	silent	SNP	0.547	T	T	11727567	C	T	11727567	2	4	94	1	0	0	0	0	0	0	0	1	18081	825	29	1		1	ZNF627	19	11727567	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	1620270	11727567	47401416	159	13544										
NDUFB7	4713	genome.wustl.edu	37	chr19	14676998	14676998	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tccctggcctttggccaactCtgccgccttcttctcccgcc	7	20	3	0	rs1042349		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:14676998C>G	ENST00000215565.2	-	3	422	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	121					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TTGGCCAACTCTGCCGCCTTC	0.622																																																	0													25	30	29					19																	14676998		2203	4300	6503	SO:0001583	missense	4713				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.361G>C	19.37:g.14676998C>G	ENSP00000215565:p.Glu121Gln		Q6ICN9|Q9UI16	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.E121Q	ENST00000215565.2	37	c.361	CCDS12314.1	19	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241541	0.22711	.	.	ENSG00000099795	ENST00000215565	T	0.45668	0.89	4.96	-1.48	0.08745	.	1.934030	0.02931	N	0.139249	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	10	0.10636	T	0.68	-5.0589	5.8007	0.18412	0.1205:0.3248:0.4702:0.0845	.	121	P17568	NDUB7_HUMAN	Q	121	ENSP00000215565:E121Q	ENSP00000215565:E121Q	E	-	1	0	NDUFB7	14537998	0.002000	0.14202	0.001000	0.08648	0.065000	0.16274	0.982000	0.29539	0.048000	0.15891	0.585000	0.79938	GAG	NDUFB7	-	NULL		0.622	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	C	NM_004146		14676998	-1	no_errors	ENST00000215565	ensembl	human	known	70_37	missense	SNP	0.006	G	G	14676998	C	G	14676998	3	3	94	1	0	0	0	0	1	0	0	0	10310	922	32	1	56	1	NDUFB7	19	14676998	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	2949431	14676998	44451985	160	13545										
ZNF536	9745	genome.wustl.edu	37	chr19	30936388	30936388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccccgactgcggccgggtgtTccgcacttaccaccaggtgg	13	16	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:30936388T>C	ENST00000355537.3	+	2	2066	c.1919T>C	c.(1918-1920)tTc>tCc	p.F640S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	640					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCCGGGTGTTCCGCACTTAC	0.637																																																	0													79	90	86					19																	30936388		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1919T>C	19.37:g.30936388T>C	ENSP00000347730:p.Phe640Ser		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F640S	ENST00000355537.3	37	c.1919	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622754	0.66787	.	.	ENSG00000198597	ENST00000355537	T	0.73469	-0.75	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.87682	2.9	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90105	0.4187	10	0.87932	D	0	-33.1636	15.9325	0.79675	0.0:0.0:0.0:1.0	.	640;640	A7E228;O15090	.;ZN536_HUMAN	S	640	ENSP00000347730:F640S	ENSP00000347730:F640S	F	+	2	0	ZNF536	35628228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.667000	0.83888	2.148000	0.66965	0.533000	0.62120	TTC	ZNF536	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	T	NM_014717		30936388	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30936388	T	C	30936388	3	2	94	1	0	0	0	0	1	0	0	0	18004	1783	62	5	1921	5	ZNF536	19	30936388	Missense_Mutation	SNP	T	TCGA-EK-A2H0-01A-11D-A17W-09	16259390	30936388	28192595	161	13546										
DMKN	93099	genome.wustl.edu	37	chr19	36004044	36004044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ttctgcctgtctgccaatctCgtgcccagtgtttcccagag	9	14	3	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:36004044C>G	ENST00000339686.3	-	1	510	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.E112Q|DMKN_ENST00000429837.1_Missense_Mutation_p.E112Q|DMKN_ENST00000424570.2_Missense_Mutation_p.E112Q|DMKN_ENST00000418261.1_Missense_Mutation_p.E112Q|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.E112Q|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.E112Q|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.E112Q|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000443640.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	112	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGCCAATCTCGTGCCCAGTG	0.607																																																	0													129	110	116					19																	36004044		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.334G>C	19.37:g.36004044C>G	ENSP00000342012:p.Glu112Gln		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.E112Q	ENST00000339686.3	37	c.334	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162536	0.57368	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.37058	1.85;1.67;2.04;1.22;1.73;1.3;1.3;1.35	4.21	3.08	0.35506	.	0.000000	0.37178	N	0.002203	T	0.50497	0.1619	L	0.55481	1.735	0.23082	N	0.998327	D;D;D;D;D;D;D	0.67145	0.976;0.996;0.996;0.976;0.976;0.976;0.976	D;D;D;D;P;P;P	0.77004	0.926;0.989;0.989;0.926;0.849;0.849;0.893	T	0.24154	-1.0168	10	0.87932	D	0	-41.3755	10.0718	0.42337	0.0:0.6778:0.3222:0.0	.	112;112;112;112;112;112;112	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	Q	112	ENSP00000342012:E112Q;ENSP00000405503:E112Q;ENSP00000391036:E112Q;ENSP00000394908:E112Q;ENSP00000415277:E112Q;ENSP00000414743:E112Q;ENSP00000388404:E112Q;ENSP00000409513:E112Q	ENSP00000342012:E112Q	E	-	1	0	DMKN	40695884	0.449000	0.25689	0.549000	0.28204	0.001000	0.01503	1.984000	0.40658	2.345000	0.79718	0.491000	0.48974	GAG	DMKN	-	NULL		0.607	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	C	NM_033317		36004044	-1	no_errors	ENST00000339686	ensembl	human	known	70_37	missense	SNP	0.709	G	G	36004044	C	G	36004044	3	3	94	1	0	0	0	0	1	0	0	0	4592	893	31	1	1477	1	DMKN	19	36004044	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	5067656	36004044	23124939	162	13547										
CD3EAP	10849	genome.wustl.edu	37	chr19	45912270	45912270	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccagggacggaggcgatggaGccagtggagccggagatgaa	19	8	0	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:45912270G>C	ENST00000309424.3	+	3	1532	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E350D	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	348					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGGCGATGGAGCCAGTGGAGC	0.617																																																	0													53	60	58					19																	45912270		2203	4300	6503	SO:0001583	missense	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1044G>C	19.37:g.45912270G>C	ENSP00000310966:p.Glu348Asp		Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol1_su_RPA34	p.E350D	ENST00000309424.3	37	c.1050	CCDS12661.1	19	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310845	0.40895	.	.	ENSG00000117877	ENST00000309424	T	0.16073	2.37	4.32	2.13	0.27403	.	0.371910	0.19388	N	0.115484	T	0.13072	0.0317	L	0.32530	0.975	0.19300	N	0.999978	P;P	0.47841	0.879;0.901	B;P	0.44647	0.327;0.456	T	0.14062	-1.0486	10	0.22706	T	0.39	-10.2403	8.1349	0.31048	0.2058:0.0:0.7942:0.0	.	350;348	O15446-2;O15446	.;RPA34_HUMAN	D	348	ENSP00000310966:E348D	ENSP00000310966:E348D	E	+	3	2	CD3EAP	50604110	0.070000	0.21116	0.002000	0.10522	0.010000	0.07245	3.312000	0.51927	0.945000	0.37605	0.491000	0.48974	GAG	CD3EAP	-	NULL		0.617	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1	G	NM_012099		45912270	1	no_errors	ENST00000589804	ensembl	human	known	70_37	missense	SNP	0.002	C	C	45912270	G	C	45912270	3	2	94	1	0	0	0	0	1	0	0	0	3017	962	34	4	1054	4	CD3EAP	19	45912270	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	9908226	45912270	13216713	163	13548										
PLEKHA4	57664	genome.wustl.edu	37	chr19	49351177	49351177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctccctctctgaggactcctCgccctggagcacgggagatg	12	15	1	2	rs200384203	byFrequency	TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:49351177C>T	ENST00000263265.6	-	14	2101	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.E491K	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	516						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GAGGACTCCTCGCCCTGGAGC	0.612													.|||	6	0.00119808	0	0	5008	,	,		14837	0		0	False		,,,				2504	0.0061																0								C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	61	55	57		1471,1546	2.8	1	19		57	0,8600		0,0,4300	yes	missense,missense	PLEKHA4	NM_001161354.1,NM_020904.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	491/584,516/780	49351177	1,13005	2203	4300	6503	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1546G>A	19.37:g.49351177C>T	ENSP00000263265:p.Glu516Lys		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E516K	ENST00000263265.6	37	c.1546	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044870	0.75732	2.27E-4	0.0	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.35421	1.31;1.31	4.89	2.77	0.32553	.	0.000000	0.36374	N	0.002640	T	0.39064	0.1064	L	0.36672	1.1	0.24705	N	0.993239	B;D	0.89917	0.014;1.0	B;D	0.73708	0.006;0.981	T	0.20438	-1.0275	10	0.09590	T	0.72	.	6.9069	0.24313	0.0:0.7986:0.0:0.2013	.	491;516	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	K	516;491	ENSP00000263265:E516K;ENSP00000347683:E491K	ENSP00000263265:E516K	E	-	1	0	PLEKHA4	54042989	0.639000	0.27234	0.996000	0.52242	0.844000	0.47949	0.814000	0.27239	1.402000	0.46780	0.650000	0.86243	GAG	PLEKHA4	-	NULL		0.612	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	C			49351177	-1	no_errors	ENST00000263265	ensembl	human	known	70_37	missense	SNP	0.981	T	T	49351177	C	T	49351177	3	4	94	1	0	0	0	0	1	0	0	0	12082	893	31	1	821	1	PLEKHA4	19	49351177	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	3438907	49351177	9777806	164	13549										
ZNF766	90321	genome.wustl.edu	37	chr19	52794063	52794063	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	caaagaatttagtgggcattCaagcctcaccacccatctgt	7	12	3	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:52794063C>G	ENST00000439461.1	+	4	1062	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*	ZNF766_ENST00000359102.4_Nonsense_Mutation_p.S355*|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Nonsense_Mutation_p.S355*	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AGTGGGCATTCAAGCCTCACC	0.383																																																	0													32	34	33					19																	52794063		2127	4271	6398	SO:0001587	stop_gained	90321			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1019C>G	19.37:g.52794063C>G	ENSP00000409652:p.Ser340*		B2RNE0|Q7Z326	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S355*	ENST00000439461.1	37	c.1064	CCDS46163.1	19	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006676	0.93287	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.8491	0.52401	0.0:1.0:0.0:0.0	.	.	.	.	X	340;355	.	ENSP00000352005:S355X	S	+	2	0	ZNF766	57485875	0.000000	0.05858	0.019000	0.16419	0.012000	0.07955	0.012000	0.13287	1.318000	0.45170	0.650000	0.86243	TCA	ZNF766	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1	C	NM_001010851		52794063	1	no_errors	ENST00000359102	ensembl	human	known	70_37	nonsense	SNP	0.118	G	G	52794063	C	G	52794063	4	3	94	1	0	0	0	0	0	1	0	0	18170	838	29	1	1033	1	ZNF766	19	52794063	Nonsense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	3442886	52794063	6334920	165	13550										
LAIR1	3903	genome.wustl.edu	37	chr19	54868125	54868125	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tttatctgattctggcgatgGaggcagaagaggaccaggag	15	6	2	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:54868125G>C	ENST00000391742.2	-	6	710	c.558C>G	c.(556-558)ctC>ctG	p.L186L	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Silent_p.L168L|LAIR1_ENST00000348231.4_Silent_p.L169L|LAIR1_ENST00000391743.3_Silent_p.L168L|LAIR1_ENST00000434277.2_Silent_p.L185L|LAIR1_ENST00000313038.6_Silent_p.L179L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	186					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTGGCGATGGAGGCAGAAGA	0.547																																																	0													91	97	95					19																	54868125		2203	4300	6503	SO:0001819	synonymous_variant	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.558C>G	19.37:g.54868125G>C				Silent	SNP	smart_Ig_sub	p.L186	ENST00000391742.2	37	c.558	CCDS12891.1	19																																																																																			LAIR1	-	NULL		0.547	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR1	HGNC	protein_coding	OTTHUMT00000140506.1	G			54868125	-1	no_errors	ENST00000391742	ensembl	human	known	70_37	silent	SNP	0.102	C	C	54868125	G	C	54868125	2	2	94	1	0	0	0	0	0	0	0	1	8622	1161	41	1		1	LAIR1	19	54868125	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	2074062	54868125	4260858	166	13551										
ZNF548	147694	genome.wustl.edu	37	chr19	57911010	57911010	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agaaaggccttacgagtgcaGagagtgtgggaaagccttta	14	6	0	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr19:57911010G>C	ENST00000366197.5	+	3	1605	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R464T|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACGAGTGCAGAGAGTGTGGG	0.468																																																	0													64	68	66					19																	57911010		2189	4295	6484	SO:0001583	missense	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1355G>C	19.37:g.57911010G>C	ENSP00000379482:p.Arg452Thr		Q96M05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R464T	ENST00000366197.5	37	c.1391	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784214	0.16189	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.14640	2.49;2.49	2.26	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.02539	-0.55	0.09310	N	1	B;B	0.19445	0.029;0.036	B;B	0.19666	0.015;0.026	T	0.37911	-0.9685	9	0.38643	T	0.18	.	2.9675	0.05912	0.2883:0.2402:0.4715:0.0	.	464;452	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	T	464;452	ENSP00000337555:R464T;ENSP00000379482:R452T	ENSP00000337555:R464T	R	+	2	0	ZNF548	62602822	0.000000	0.05858	0.003000	0.11579	0.954000	0.61252	-2.088000	0.01359	0.524000	0.28502	0.655000	0.94253	AGA	ZNF548	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	G	NM_152909		57911010	1	no_errors	ENST00000336128	ensembl	human	known	70_37	missense	SNP	0.002	C	C	57911010	G	C	57911010	3	2	94	1	0	0	0	0	1	0	0	0	18010	942	33	1	1405	1	ZNF548	19	57911010	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	3042885	57911010	1217973	167	13552										
TRPC4AP	26133	genome.wustl.edu	37	chr20	33591061	33591061	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggatggacactgtctccttcCagtatgagaagctgatgcag	12	9	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr20:33591061C>T	ENST00000252015.2	-	19	2371	c.2282G>A	c.(2281-2283)tGg>tAg	p.W761*	TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.W722*|TRPC4AP_ENST00000451813.2_Nonsense_Mutation_p.W753*|TRPC4AP_ENST00000539834.1_Nonsense_Mutation_p.W363*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	761					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTCTCCTTCCAGTATGAGAA	0.602																																																	0													68	62	64					20																	33591061		2203	4300	6503	SO:0001587	stop_gained	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2282G>A	20.37:g.33591061C>T	ENSP00000252015:p.Trp761*		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Nonsense_Mutation	SNP	pfam_DUF3689	p.W761*	ENST00000252015.2	37	c.2282	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.389770	0.97529	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.79	4.79	0.61399	.	0.117908	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0236	0.89262	0.0:1.0:0.0:0.0	.	.	.	.	X	761;753;363;722;746	.	ENSP00000252015:W761X	W	-	2	0	TRPC4AP	33054722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.468000	0.83385	0.563000	0.77884	TGG	TRPC4AP	-	NULL		0.602	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	C	NM_015638		33591061	-1	no_errors	ENST00000252015	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	33591061	C	T	33591061	4	4	94	1	0	0	0	0	0	1	0	0	16612	595	21	4	115	4	TRPC4AP	20	33591061	Nonsense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		33591061	29434459	168	13553										
ADNP	23394	genome.wustl.edu	37	chr20	49508892	49508892	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	taaactggctgctagcttctCaatttctctcctggtgggat	9	10	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr20:49508892C>A	ENST00000396029.3	-	5	2926	c.2359G>T	c.(2359-2361)Gag>Tag	p.E787*	ADNP_ENST00000396032.3_Nonsense_Mutation_p.E787*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.E787*|ADNP_ENST00000371602.4_Nonsense_Mutation_p.E787*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	787					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCTAGCTTCTCAATTTCTCTC	0.418																																																	0													88	83	85					20																	49508892		2203	4300	6503	SO:0001587	stop_gained	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2359G>T	20.37:g.49508892C>A	ENSP00000379346:p.Glu787*		E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E787*	ENST00000396029.3	37	c.2359	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	46	12.174023	0.99643	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.88	5.88	0.94601	.	0.098367	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.9273	20.2187	0.98312	0.0:1.0:0.0:0.0	.	.	.	.	X	787	.	ENSP00000342905:E787X	E	-	1	0	ADNP	48942299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.476000	0.81055	2.780000	0.95670	0.655000	0.94253	GAG	ADNP	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.418	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	C	NM_181442		49508892	-1	no_errors	ENST00000349014	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49508892	C	A	49508892	4	1	94	1	0	0	0	0	0	1	0	0	323	835	29	3	953	3	ADNP	20	49508892	Nonsense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	15917831	49508892	13516628	169	13554										
ADNP	23394	genome.wustl.edu	37	chr20	49509062	49509062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cactatcatcatctaactttCgttttttcagtaagggaaat	5	8	4	0	rs377051194		TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr20:49509062C>A	ENST00000396029.3	-	5	2756	c.2189G>T	c.(2188-2190)cGa>cTa	p.R730L	ADNP_ENST00000396032.3_Missense_Mutation_p.R730L|ADNP_ENST00000349014.3_Missense_Mutation_p.R730L|ADNP_ENST00000371602.4_Missense_Mutation_p.R730L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	730					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATCTAACTTTCGTTTTTTCAG	0.443																																																	0													80	80	80					20																	49509062		2203	4300	6503	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2189G>T	20.37:g.49509062C>A	ENSP00000379346:p.Arg730Leu		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R730L	ENST00000396029.3	37	c.2189	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760538	0.49468	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	5.14	0.70334	.	0.046201	0.85682	D	0.000000	T	0.55000	0.1893	L	0.40543	1.245	0.42726	D	0.993698	B	0.19817	0.039	B	0.12837	0.008	T	0.53669	-0.8406	9	0.54805	T	0.06	-16.7209	15.2523	0.73556	0.0:0.9332:0.0:0.0668	.	730	Q9H2P0	ADNP_HUMAN	L	730	.	ENSP00000342905:R730L	R	-	2	0	ADNP	48942469	0.909000	0.30893	0.977000	0.42913	0.798000	0.45092	2.898000	0.48672	1.584000	0.49913	0.655000	0.94253	CGA	ADNP	-	NULL		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	C	NM_181442		49509062	-1	no_errors	ENST00000349014	ensembl	human	known	70_37	missense	SNP	0.974	A	A	49509062	C	A	49509062	3	1	94	1	0	0	0	0	1	0	0	0	323	884	31	3	1123	3	ADNP	20	49509062	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	170	49509062	13516458	170	13555										
C20orf107	388799	genome.wustl.edu	37	chr20	55111363	55111363	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agcttttgaaatttgtgtccGaagtgcagaatcttaaaggt	10	5	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr20:55111363G>C	ENST00000371325.1	+	2	481	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	129			E -> A (in dbSNP:rs2296129).			integral component of membrane (GO:0016021)|nucleus (GO:0005634)											ATTTGTGTCCGAAGTGCAGAA	0.423																																																	0													97	97	97					20																	55111363		2203	4300	6503	SO:0001583	missense	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.385G>C	20.37:g.55111363G>C	ENSP00000360376:p.Glu129Gln		Q3KRB5	Missense_Mutation	SNP	NULL	p.E129Q	ENST00000371325.1	37	c.385	CCDS33494.1	20	.	.	.	.	.	.	.	.	.	.	g	5.347	0.249398	0.10130	.	.	ENSG00000213714	ENST00000371325	T	0.07688	3.17	3.55	2.44	0.29823	.	0.382680	0.21732	N	0.069953	T	0.04092	0.0114	N	0.08118	0	0.09310	N	0.999996	B	0.14012	0.009	B	0.12837	0.008	T	0.36089	-0.9762	10	0.62326	D	0.03	-10.4598	5.8222	0.18534	0.8743:0.0:0.1257:0.0	.	129	Q5JX69	CT107_HUMAN	Q	129	ENSP00000360376:E129Q	ENSP00000360376:E129Q	E	+	1	0	C20orf107	54544770	1.000000	0.71417	0.985000	0.45067	0.030000	0.12068	1.382000	0.34374	0.544000	0.28883	-0.417000	0.06048	GAA	FAM209B	-	NULL		0.423	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209B	HGNC	protein_coding	OTTHUMT00000079816.1	G			55111363	1	no_errors	ENST00000371325	ensembl	human	known	70_37	missense	SNP	0.992	C	C	55111363	G	C	55111363	3	2	94	1	0	0	0	0	1	0	0	0	2082	1059	37	1	391	1	C20orf107	20	55111363	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	5602301	55111363	7914157	171	13556										
BACH1	571	genome.wustl.edu	37	chr21	30699110	30699110	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	agaccctcatggactttattCtttgtctcttttacacacat	4	11	3	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr21:30699110C>G	ENST00000399921.1	+	3	1208	c.965C>G	c.(964-966)tCt>tGt	p.S322C	BACH1_ENST00000286800.3_Missense_Mutation_p.S322C	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	318	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGACTTTATTCTTTGTCTCTT	0.403																																																	0													121	126	124					21																	30699110		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.965C>G	21.37:g.30699110C>G	ENSP00000382805:p.Ser322Cys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S322C	ENST00000399921.1	37	c.965	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699624	0.48307	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.73152	-0.72;-0.72	5.65	3.77	0.43336	.	0.233910	0.38436	N	0.001684	T	0.62270	0.2414	L	0.29908	0.895	0.09310	N	0.999999	D	0.55800	0.973	P	0.46975	0.533	T	0.58515	-0.7623	10	0.66056	D	0.02	-12.3444	10.8846	0.46960	0.13:0.8026:0.0:0.0673	.	322	O14867	BACH1_HUMAN	C	322	ENSP00000286800:S322C;ENSP00000382805:S322C	ENSP00000286800:S322C	S	+	2	0	BACH1	29620981	0.097000	0.21791	0.207000	0.23584	0.971000	0.66376	2.579000	0.46059	1.627000	0.50400	0.655000	0.94253	TCT	BACH1	-	NULL		0.403	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	C	NM_206866		30699110	1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	0.024	G	G	30699110	C	G	30699110	3	3	94	1	0	0	0	0	1	0	0	0	1284	913	32	1	971	1	BACH1	21	30699110	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09		30699110	17430785	172	13557										
COL6A1	1291	genome.wustl.edu	37	chr21	47423450	47423450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aggacggaccccgcccacgaCgtgcgggtggcggtggtgca	18	13	0	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr21:47423450C>T	ENST00000361866.3	+	35	2724	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	870	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCCCACGACGTGCGGGTGG	0.711																																																	0													19	22	21					21																	47423450		2186	4272	6458	SO:0001819	synonymous_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2610C>T	21.37:g.47423450C>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D870	ENST00000361866.3	37	c.2610	CCDS13727.1	21																																																																																			COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.711	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	C	NM_001848		47423450	1	no_errors	ENST00000361866	ensembl	human	known	70_37	silent	SNP	0.001	T	T	47423450	C	T	47423450	2	4	94	1	0	0	0	0	0	0	0	1	3704	535	19	2		2	COL6A1	21	47423450	Silent	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	16724340	47423450	706445	173	13558										
CABIN1	23523	genome.wustl.edu	37	chr22	24563133	24563133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	gccgctctcccggctcagccGcaagaggaagctcctggagg	14	15	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr22:24563133G>A	ENST00000398319.2	+	32	5919	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R1766H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1845H|CABIN1_ENST00000337989.7_Missense_Mutation_p.R270H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1845					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGGCTCAGCCGCAAGAGGAAG	0.697																																																	0													21	24	23					22																	24563133		2200	4298	6498	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5534G>A	22.37:g.24563133G>A	ENSP00000381364:p.Arg1845His		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1845H	ENST00000398319.2	37	c.5534	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003983	0.93287	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.991	T	0.16129	-1.0413	10	0.66056	D	0.02	.	17.7539	0.88444	0.0:0.0:1.0:0.0	.	270;1766;1845	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	H	1845;1766;1845;270;270	ENSP00000263119:R1845H;ENSP00000384694:R1766H;ENSP00000381364:R1845H;ENSP00000336991:R270H	ENSP00000263119:R1845H	R	+	2	0	CABIN1	22893133	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.292000	0.96076	2.503000	0.84419	0.558000	0.71614	CGC	CABIN1	-	NULL		0.697	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	G	NM_012295		24563133	1	no_errors	ENST00000263119	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24563133	G	A	24563133	3	1	94	1	0	0	0	0	1	0	0	0	2533	1087	38	2	5656	2	CABIN1	22	24563133	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09		24563133	26741433	174	13559										
RNF185	91445	genome.wustl.edu	37	chr22	31592952	31592952	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	cctcctcgtcctcaaggacaGaggccagagccggagaatag	12	13	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr22:31592952G>C	ENST00000326132.6	+	5	498	c.339G>C	c.(337-339)caG>caC	p.Q113H	RNF185_ENST00000266252.7_Intron|RNF185_ENST00000426256.2_Missense_Mutation_p.Q51H	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	113					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						CTCAAGGACAGAGGCCAGAGC	0.448																																																	0													49	54	52					22																	31592952		2203	4300	6503	SO:0001583	missense	91445				CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"RING-type (C3HC4) zinc fingers"	26783	protein-coding gene	gene with protein product	"hypothetical protein FLJ38628"					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.339G>C	22.37:g.31592952G>C	ENSP00000320508:p.Gln113His		A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q113H	ENST00000326132.6	37	c.339	CCDS13890.1	22	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878607	0.51801	.	.	ENSG00000138942	ENST00000426256;ENST00000326132;ENST00000436825	D	0.95724	-3.79	5.73	2.16	0.27623	.	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.75264	2.295	0.58432	D	0.999994	D;P	0.64830	0.994;0.943	D;D	0.75484	0.986;0.948	D	0.94935	0.8086	10	0.42905	T	0.14	.	9.3702	0.38250	0.2623:0.0:0.7377:0.0	.	51;113	B4DMD6;Q96GF1	.;RN185_HUMAN	H	51;113;113	ENSP00000320508:Q113H	ENSP00000320508:Q113H	Q	+	3	2	RNF185	29922952	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.025000	0.41059	0.595000	0.29777	0.555000	0.69702	CAG	RNF185	-	NULL		0.448	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF185	HGNC	protein_coding	OTTHUMT00000321927.2	G	NM_152267		31592952	1	no_errors	ENST00000326132	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31592952	G	C	31592952	3	2	94	1	0	0	0	0	1	0	0	0	13498	933	33	1	353	1	RNF185	22	31592952	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	7029819	31592952	19711614	175	13560										
LMF2	91289	genome.wustl.edu	37	chr22	50942059	50942059	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ggcctccaggggagacagctGagagcgagtccagtggaggg	19	9	0	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chr22:50942059G>A	ENST00000474879.2	-	14	1900	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Nonsense_Mutation_p.Q516*|LMF2_ENST00000216080.5_Nonsense_Mutation_p.Q604*	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	629						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGACAGCTGAGAGCGAGTC	0.682																																																	0													15	21	19					22																	50942059		2187	4277	6464	SO:0001587	stop_gained	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1885C>T	22.37:g.50942059G>A	ENSP00000424381:p.Gln629*		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Nonsense_Mutation	SNP	pfam_LMF	p.Q629*	ENST00000474879.2	37	c.1885	CCDS14093.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295131|4.295131	0.81025|0.81025	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	.|.	.|.	.|.	5.33|5.33	4.31|4.31	0.51392|0.51392	.|.	0.515799|.	0.20289|.	N|.	0.095282|.	.|T	.|0.59918	.|0.2229	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57219	.|-0.7849	.|5	0.29301|0.33141	T|T	0.29|0.24	-1.7929|-1.7929	10.2471|10.2471	0.43347|0.43347	0.0921:0.0:0.9079:0.0|0.0921:0.0:0.9079:0.0	.|.	.|.	.|.	.|.	X|L	516;629;604|635	.|.	ENSP00000216080:Q604X|ENSP00000424764:S635L	Q|S	-|-	1|2	0|0	LMF2|LMF2	49288925|49288925	0.998000|0.998000	0.40836|0.40836	0.698000|0.698000	0.30274|0.30274	0.005000|0.005000	0.04900|0.04900	3.410000|3.410000	0.52664|0.52664	1.382000|1.382000	0.46385|0.46385	0.650000|0.650000	0.86243|0.86243	CAG|TCA	LMF2	-	NULL		0.682	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	G	NM_033200		50942059	-1	no_errors	ENST00000474879	ensembl	human	known	70_37	nonsense	SNP	0.917	A	A	50942059	G	A	50942059	4	1	94	1	0	0	0	0	0	1	0	0	8867	1299	45	1	242	1	LMF2	22	50942059	Nonsense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	19349107	50942059	362507	176	13561										
MED12	9968	genome.wustl.edu	37	chrX	70342457	70342457	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	aatgccaggaagctactgcaGgtatgtgtcagagaacagat	12	7	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:70342457G>C	ENST00000374080.3	+	9	1380	c.1348G>C	c.(1348-1350)Ggc>Cgc	p.G450R	MED12_ENST00000333646.6_Splice_Site_p.G450R|MED12_ENST00000374102.1_Splice_Site_p.G450R			Q93074	MED12_HUMAN	mediator complex subunit 12	450					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCTACTGCAGGTATGTGTCA	0.498			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													65	62	63					X																	70342457		1955	4131	6086	SO:0001630	splice_region_variant	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1348+1G>C	X.37:g.70342457G>C			O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.G450R	ENST00000374080.3	37	c.1348	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	19.17	3.775298	0.70107	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	4.85	4.85	0.62838	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	M	0.86420	2.815	0.80722	D	1	B;P;D;P	0.54772	0.387;0.946;0.968;0.936	B;P;P;P	0.60949	0.409;0.767;0.881;0.756	T	0.72067	-0.4402	10	0.87932	D	0	-14.4362	17.2392	0.87008	0.0:0.0:1.0:0.0	.	450;297;450;450	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	R	450;450;450;450;418	ENSP00000333125:G450R;ENSP00000363215:G450R;ENSP00000363193:G450R;ENSP00000414203:G418R	ENSP00000333125:G450R	G	+	1	0	MED12	70259182	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.983000	0.93477	2.251000	0.74343	0.502000	0.49764	GGC	MED12	-	pfam_Mediator_Med12_LCEWAV		0.498	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	G	NM_005120	Missense_Mutation	70342457	1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70342457	G	C	70342457	5	2	94	1	0	0	0	0	0	0	1	0	9451	1014	35	4	1382	4	MED12	23	70342457	Splice_Site	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09		70342457	84928103	177	13562										
FAM133A	286499	genome.wustl.edu	37	chrX	92964579	92964579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	attagaaaataaaaaaacagGttcaaaagcattagctgaat	6	4	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:92964579G>A	ENST00000355813.5	+	4	687	c.161G>A	c.(160-162)gGt>gAt	p.G54D	FAM133A_ENST00000538690.1_Missense_Mutation_p.G54D|FAM133A_ENST00000322139.4_Missense_Mutation_p.G54D|FAM133A_ENST00000332647.4_Missense_Mutation_p.G54D	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	54	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAAAACAGGTTCAAAAGCA	0.348																																																	0													28	28	28					X																	92964579		2182	4273	6455	SO:0001583	missense	286499			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.161G>A	X.37:g.92964579G>A	ENSP00000348067:p.Gly54Asp			Missense_Mutation	SNP	NULL	p.G54D	ENST00000355813.5	37	c.161	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	12.25	1.880710	0.33255	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.2	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.84326	2.69	0.28279	N	0.924087	P	0.40107	0.703	B	0.34722	0.188	T	0.47711	-0.9096	10	0.87932	D	0	-2.1309	5.4048	0.16316	0.1601:0.0:0.8399:0.0	.	54	Q8N9E0	F133A_HUMAN	D	54	ENSP00000441389:G54D;ENSP00000348067:G54D;ENSP00000318974:G54D;ENSP00000362169:G54D	ENSP00000318974:G54D	G	+	2	0	FAM133A	92851235	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	2.791000	0.47829	0.731000	0.32448	0.597000	0.82753	GGT	FAM133A	-	NULL		0.348	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	G	NM_173698		92964579	1	no_errors	ENST00000322139	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92964579	G	A	92964579	3	1	94	1	0	0	0	0	1	0	0	0	5458	1261	44	4	163	4	FAM133A	23	92964579	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	22622122	92964579	62305981	178	13563										
RGAG1	57529	genome.wustl.edu	37	chrX	109697207	109697207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctctggatcaaagcccacatCgcacatgactgccacaactc	6	16	2	1			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:109697207C>T	ENST00000465301.2	+	3	3608	c.3362C>T	c.(3361-3363)tCg>tTg	p.S1121L	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1121L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1121								p.S1121L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGCCCACATCGCACATGACT	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											163	147	153					X																	109697207		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3362C>T	X.37:g.109697207C>T	ENSP00000419786:p.Ser1121Leu		Q9P2M8	Missense_Mutation	SNP	NULL	p.S1121L	ENST00000465301.2	37	c.3362	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144449	0.37825	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.47528	0.84;0.84	4.26	4.26	0.50523	.	0.611619	0.13674	N	0.370681	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B	0.21147	0.052	B	0.15870	0.014	T	0.06391	-1.0829	9	.	.	.	-6.4529	13.5204	0.61563	0.0:1.0:0.0:0.0	.	1121	Q8NET4	RGAG1_HUMAN	L	1121;1121;682	ENSP00000419786:S1121L;ENSP00000441452:S1121L	.	S	+	2	0	RGAG1	109583863	0.004000	0.15560	0.009000	0.14445	0.032000	0.12392	1.908000	0.39907	2.356000	0.79943	0.600000	0.82982	TCG	RGAG1	-	NULL		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109697207	1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.036	T	T	109697207	C	T	109697207	3	4	94	1	0	0	0	0	1	0	0	0	13304	893	31	1	3364	1	RGAG1	23	109697207	Missense_Mutation	SNP	C	TCGA-EK-A2H0-01A-11D-A17W-09	16732628	109697207	45573353	179	13564										
GRIA3	2892	genome.wustl.edu	37	chrX	122319787	122319787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	accgagaagcccttccatttGaattaccacgtagatcactt	6	12	1	3			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:122319787G>A	ENST00000371251.1	+	2	265	c.213G>A	c.(211-213)ttG>ttA	p.L71L	GRIA3_ENST00000541091.1_Silent_p.L55L|GRIA3_ENST00000371264.3_Silent_p.L71L|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Silent_p.L71L|GRIA3_ENST00000542149.1_Silent_p.L71L|GRIA3_ENST00000371256.5_Silent_p.L71L|GRIA3_ENST00000371266.1_Silent_p.L71L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	71					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CCTTCCATTTGAATTACCACG	0.473																																																	0													175	134	148					X																	122319787		2203	4300	6503	SO:0001819	synonymous_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.213G>A	X.37:g.122319787G>A			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L71	ENST00000371251.1	37	c.213	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt		0.473	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	G	NM_000828		122319787	1	no_errors	ENST00000264357	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122319787	G	A	122319787	2	1	94	1	0	0	0	0	0	0	0	1	6789	1281	45	1		1	GRIA3	23	122319787	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	12622580	122319787	32950773	180	13565										
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685980	125685980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ccgctcacggctacggtgtcActcagccaggcgacggcgaa	13	15	3	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:125685980A>T	ENST00000371126.1	-	1	854	c.612T>A	c.(610-612)agT>agA	p.S204R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	204										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTACGGTGTCACTCAGCCAGG	0.662																																																	0													34	36	36					X																	125685980		2203	4297	6500	SO:0001583	missense	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.612T>A	X.37:g.125685980A>T	ENSP00000360167:p.Ser204Arg		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S204R	ENST00000371126.1	37	c.612	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546308	0.65198	.	.	ENSG00000198889	ENST00000371126	T	0.60548	0.18	3.89	-0.883	0.10600	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38837	N	0.001554	T	0.63224	0.2493	M	0.66939	2.045	0.30867	N	0.732912	D	0.63880	0.993	D	0.63877	0.919	T	0.61367	-0.7077	10	0.48119	T	0.1	.	4.6801	0.12731	0.6001:0.1718:0.228:0.0	.	204	Q5VU92	DC121_HUMAN	R	204	ENSP00000360167:S204R	ENSP00000360167:S204R	S	-	3	2	DCAF12L1	125513661	0.998000	0.40836	0.449000	0.26957	0.952000	0.60782	0.607000	0.24209	-0.280000	0.09154	0.350000	0.21858	AGT	DCAF12L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.662	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	A	NM_178470		125685980	-1	no_errors	ENST00000371126	ensembl	human	known	70_37	missense	SNP	0.998	T	T	125685980	A	T	125685980	3	4	94	1	0	0	0	0	1	0	0	0	4269	156	6	5	783	5	DCAF12L1	23	125685980	Missense_Mutation	SNP	A	TCGA-EK-A2H0-01A-11D-A17W-09	3366193	125685980	29584580	181	13566										
MAGEA8	4107	genome.wustl.edu	37	chrX	149013299	149013299	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	ctctgtggagccaatccgatGagggttccagcagcaatgaa	12	10	1	2			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:149013299G>A	ENST00000542674.1	+	3	774	c.253G>A	c.(253-255)Gag>Aag	p.E85K	MAGEA8_ENST00000286482.1_Missense_Mutation_p.E85K|MAGEA8_ENST00000535454.1_Missense_Mutation_p.E85K|MAGEA8_ENST00000493910.1_3'UTR	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	85										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATCCGATGAGGGTTCCAG	0.597																																																	0													73	69	70					X																	149013299		2203	4298	6501	SO:0001583	missense	4107				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.253G>A	X.37:g.149013299G>A	ENSP00000443776:p.Glu85Lys		Q9BUN9	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E85K	ENST00000542674.1	37	c.253	CCDS14692.1	X	.	.	.	.	.	.	.	.	.	.	.	13.74	2.328518	0.41197	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.08458	3.09;3.09;3.09	0.805	0.805	0.18703	Melanoma associated antigen, MAGE, N-terminal (1);	1.707440	0.02924	N	0.138380	T	0.29355	0.0731	M	0.77103	2.36	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.08452	-1.0721	9	0.38643	T	0.18	.	.	.	.	.	85	P43361	MAGA8_HUMAN	K	85	ENSP00000438293:E85K;ENSP00000443776:E85K;ENSP00000286482:E85K	ENSP00000286482:E85K	E	+	1	0	MAGEA8	148773957	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	1.033000	0.30191	0.659000	0.30945	0.190000	0.17370	GAG	MAGEA8	-	pfam_Melanoma_ass_antigen_N		0.597	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	G	NM_005364		149013299	1	no_errors	ENST00000286482	ensembl	human	known	70_37	missense	SNP	0.001	A	A	149013299	G	A	149013299	3	1	94	1	0	0	0	0	1	0	0	0	9194	1291	45	1	255	1	MAGEA8	23	149013299	Missense_Mutation	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	23327319	149013299	6257261	182	13567										
SLC10A3	8273	genome.wustl.edu	37	chrX	153717091	153717091	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.532967032967033	97	1.13255643791091e-39	4.38500724345121	5.0474296435272	3.78643278555121	0.266132348856917	0.516296756782419	75	tctccaatgctcaagtagcgGcccccagtcggtggcacggt	12	14	2	0			TCGA-EK-A2H0-01A-11D-A17W-09	TCGA-EK-A2H0-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c	09be50c4-0ffb-4335-a35d-d39c5b0177ea	g.chrX:153717091G>C	ENST00000393587.4	-	3	452	c.189C>G	c.(187-189)ggC>ggG	p.G63G	SLC10A3_ENST00000263512.4_Silent_p.G63G|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.G63G|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.G118G	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	63					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAAGTAGCGGCCCCCAGTCG	0.627																																																	0													131	104	113					X																	153717091		2203	4300	6503	SO:0001819	synonymous_variant	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.189C>G	X.37:g.153717091G>C			Q5HY79|Q9BSL2	Silent	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.G63	ENST00000393587.4	37	c.189	CCDS14755.1	X																																																																																			SLC10A3	-	NULL		0.627	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	G	NM_019848		153717091	-1	no_errors	ENST00000263512	ensembl	human	known	70_37	silent	SNP	0.122	C	C	153717091	G	C	153717091	2	2	94	1	0	0	0	0	0	0	0	1	14405	1190	42	4		4	SLC10A3	23	153717091	Silent	SNP	G	TCGA-EK-A2H0-01A-11D-A17W-09	4703792	153717091	1553469	183	13568										
PLEKHG5	57449	genome.wustl.edu	37	chr1	6531079	6531079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ggcccggaagaggtcgttgtCgcgcagcaggccgcgcatgt	17	12	0	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:6531079C>T	ENST00000400915.3	-	14	1597	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D524N|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D455N|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D455N|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D534N|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.D532N|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D492N|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D455N|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.D532N|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D455N|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D455N|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D455N	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	511	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTCGTTGTCGCGCAGCAGG	0.706																																																	0													23	21	22					1																	6531079		2198	4297	6495	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1531G>A	1.37:g.6531079C>T	ENSP00000383706:p.Asp511Asn		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D534N	ENST00000400915.3	37	c.1600	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670330	0.67814	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.31526	0.94	0.80722	D	1	B;B;B;P;B	0.36110	0.004;0.191;0.026;0.537;0.344	B;B;B;B;B	0.28553	0.005;0.055;0.021;0.085;0.091	T	0.54450	-0.8292	10	0.33141	T	0.24	-29.3422	16.264	0.82565	0.0:1.0:0.0:0.0	.	524;455;532;532;511	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	N	532;455;455;511;532;492;455;455;524;455;361;534;455	ENSP00000366977:D532N;ENSP00000344570:D455N;ENSP00000383704:D455N;ENSP00000383706:D511N;ENSP00000366969:D532N;ENSP00000366961:D492N;ENSP00000366957:D455N;ENSP00000366954:D455N;ENSP00000441445:D524N;ENSP00000366966:D455N;ENSP00000439625:D534N;ENSP00000437710:D455N	ENSP00000344570:D455N	D	-	1	0	PLEKHG5	6453666	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.414000	0.66405	2.155000	0.67459	0.462000	0.41574	GAC	PLEKHG5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.706	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6531079	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6531079	C	T	6531079	3	4	95	1	0	0	0	0	1	0	0	0	12097	884	31	1	1693	1	PLEKHG5	1	6531079	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09		6531079	242719542	1	13569										
FPGT	8790	genome.wustl.edu	37	chr1	74671227	74671227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ctttggagtctgtttcctgtCatgcttagatgtttggaatc	10	7	2	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:74671227C>T	ENST00000609362.1	+	4	1533	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.S245L|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.S512L|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_3'UTR	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	499					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.S499*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTTTCCTGTCATGCTTAGAT	0.378																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											115	107	110					1																	74671227		2203	4300	6503	SO:0001583	missense	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1496C>T	1.37:g.74671227C>T	ENSP00000476680:p.Ser499Leu		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.S499L	ENST00000609362.1	37	c.1496	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910494	0.52439	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.32988	1.43;1.43	5.1	3.01	0.34805	L-fucokinase (1);	.	.	.	.	T	0.15478	0.0373	L	0.51422	1.61	0.80722	D	1	P;P;B	0.44521	0.642;0.837;0.253	B;B;B	0.38106	0.265;0.216;0.173	T	0.04268	-1.0964	9	0.39692	T	0.17	.	12.095	0.53750	0.3737:0.6262:0.0:0.0	.	245;124;499	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	L	499;245	ENSP00000359935:S499L;ENSP00000432819:S245L	ENSP00000359935:S499L	S	+	2	0	TNNI3K	74443815	0.283000	0.24277	0.998000	0.56505	0.948000	0.59901	4.240000	0.58701	2.351000	0.79841	0.563000	0.77884	TCA	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		C			74671227	1	no_errors	ENST00000370898	ensembl	human	known	70_37	missense	SNP	0.952	T	T	74671227	C	T	74671227	3	4	95	1	0	0	0	0	1	0	0	0	6055	838	29	1	1510	1	FPGT	1	74671227	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	68140148	74671227	174579394	2	13570										
OBSCN	84033	genome.wustl.edu	37	chr1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	acactggggagtactcgtgcGtgtgcgggcaggagaggacc	18	9	0	1	rs374049885		TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:228480445G>A	ENST00000422127.1	+	40	10869	c.10825G>A	c.(10825-10827)Gtg>Atg	p.V3609M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V4038M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3609	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACTCGTGCGTGTGCGGGCA	0.577																																																	0								G	MET/VAL,MET/VAL	1,4289		0,1,2144	120	122	121		10825,10825	1.5	0	1		121	1,8483		0,1,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6385	AA,AG,GG		0.0118,0.0233,0.0157	benign,benign	3609/7969,3609/6621	228480445	2,12772	2145	4242	6387	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10825G>A	1.37:g.228480445G>A	ENSP00000409493:p.Val3609Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V3609M	ENST00000422127.1	37	c.10825	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499541	0.44455	2.33E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.38	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167348	0.41097	N	0.000958	T	0.68348	0.2991	M	0.81112	2.525	0.22266	N	0.999248	P;P	0.48407	0.91;0.89	P;P	0.46585	0.521;0.454	T	0.60860	-0.7179	10	0.33940	T	0.23	.	10.045	0.42182	0.2732:0.0:0.7268:0.0	.	3609;3609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3609;3609;728;728;2456	ENSP00000284548:V3609M;ENSP00000409493:V3609M;ENSP00000355668:V728M;ENSP00000355670:V728M;ENSP00000352613:V2456M	ENSP00000284548:V3609M	V	+	1	0	OBSCN	226547068	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.104000	0.10923	0.017000	0.15025	0.561000	0.74099	GTG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228480445	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.518	A	A	228480445	G	A	228480445	3	1	95	1	0	0	0	0	1	0	0	0	10836	1145	40	2	10979	2	OBSCN	1	228480445	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09	153809218	228480445	20770176	3	13571										
COG2	22796	genome.wustl.edu	37	chr1	230825830	230825830	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	attccagcttcagagcggacAcaaggataagctcaaacaag	9	10	2	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr1:230825830A>T	ENST00000366669.4	+	16	1980	c.1865A>T	c.(1864-1866)cAc>cTc	p.H622L	COG2_ENST00000534989.1_Missense_Mutation_p.H563L|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Missense_Mutation_p.H506L|COG2_ENST00000366668.3_Missense_Mutation_p.H621L|COG2_ENST00000546013.1_Missense_Mutation_p.H311L	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	622					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CAGAGCGGACACAAGGATAAG	0.463																																																	0													116	119	118					1																	230825830		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1865A>T	1.37:g.230825830A>T	ENSP00000355629:p.His622Leu		Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.H622L	ENST00000366669.4	37	c.1865	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	A	9.704	1.155363	0.21454	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.91	3.5	0.40072	COG complex component, COG2, C-terminal (1);	0.475473	0.26935	N	0.021743	T	0.34890	0.0913	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.32128	0.357;0.154	B;B	0.34590	0.186;0.124	T	0.19386	-1.0307	10	0.11485	T	0.65	-5.3041	11.1631	0.48526	0.7541:0.0:0.0:0.2459	.	621;622	Q86U99;Q14746	.;COG2_HUMAN	L	622;506;621;563;311	ENSP00000355629:H622L;ENSP00000445724:H506L;ENSP00000355628:H621L;ENSP00000440349:H563L;ENSP00000442147:H311L	ENSP00000355628:H621L	H	+	2	0	COG2	228892453	1.000000	0.71417	0.021000	0.16686	0.559000	0.35586	5.221000	0.65272	0.428000	0.26173	0.533000	0.62120	CAC	COG2	-	pfam_COG_complex_COG2_C		0.463	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	A	NM_007357		230825830	1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	0.039	T	T	230825830	A	T	230825830	3	4	95	1	0	0	0	0	1	0	0	0	3663	159	6	5	1927	5	COG2	1	230825830	Missense_Mutation	SNP	A	TCGA-EK-A2H1-01A-11D-A17W-09	2345385	230825830	18424791	4	13572										
TPO	7173	genome.wustl.edu	37	chr2	1457571	1457571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ggctggaaccccggcttcttGtacaacgggttcccactgcc	11	15	1	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:1457571G>A	ENST00000345913.4	+	6	679	c.588G>A	c.(586-588)ttG>ttA	p.L196L	TPO_ENST00000382198.1_Silent_p.L196L|TPO_ENST00000337415.3_Silent_p.L196L|TPO_ENST00000349624.3_Silent_p.L196L|TPO_ENST00000346956.3_Silent_p.L196L|TPO_ENST00000329066.4_Silent_p.L196L|TPO_ENST00000382201.3_Silent_p.L196L|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	196					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCGGCTTCTTGTACAACGGGT	0.597																																																	0													39	43	42					2																	1457571		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.588G>A	2.37:g.1457571G>A			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L196	ENST00000345913.4	37	c.588	CCDS1643.1	2																																																																																			TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1457571	1	no_errors	ENST00000329066	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1457571	G	A	1457571	2	1	95	1	0	0	0	0	0	0	0	1	16441	1368	48	4		4	TPO	2	1457571	Silent	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		1457571	241741802	5	13573										
MARCH7	64844	genome.wustl.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-													0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	gcttctagcatgtcatctacTtttttttcacgaagatctag							TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																																	0													63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3	T	NM_022826		160604680	1	no_errors	ENST00000259050	ensembl	human	known	70_37	frame_shift_del	DEL	0.910	-	-	160604680	T	-	160604680	7	5	95	1	0	1	0	1	0	0	0	0	9329	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-EK-A2H1-01A-11D-A17W-09	159147109	160604680	82594693	6	13574										
METTL8	79828	genome.wustl.edu	37	chr2	172217022	172217022	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	cttagaccactgcatgtgatCcctattaaaaaaaaatagac	5	9	0	3	rs545647826		TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:172217022C>G	ENST00000375258.4	-	3	360	c.145G>C	c.(145-147)Gat>Cat	p.D49H		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	49						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TGCATGTGATCCCTATTAAAA	0.378																																																	0													94	88	90					2																	172217022		2203	4300	6503	SO:0001630	splice_region_variant	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.144-1G>C	2.37:g.172217022C>G			Q53TM9|Q53TQ0	Missense_Mutation	SNP	pfam_Methyltransf_11	p.D49H	ENST00000375258.4	37	c.145		2	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136275	0.56936	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846;ENST00000442541	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.86805	2.84	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.59778	-0.7390	10	0.87932	D	0	-2.3399	16.1499	0.81605	0.0:1.0:0.0:0.0	.	4;49;49	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	H	49	ENSP00000364407:D49H;ENSP00000376377:D49H;ENSP00000404646:D49H;ENSP00000411589:D49H;ENSP00000411942:D49H	ENSP00000364407:D49H	D	-	1	0	METTL8	171925268	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	4.376000	0.59556	2.669000	0.90835	0.467000	0.42956	GAT	METTL8	-	NULL		0.378	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	C	NM_024770	Missense_Mutation	172217022	-1	no_errors	ENST00000392604	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172217022	C	G	172217022	5	3	95	1	0	0	0	0	0	0	1	0	9530	869	30	1	1110	1	METTL8	2	172217022	Splice_Site	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	11612342	172217022	70982351	7	13575										
CRYGA	1418	genome.wustl.edu	37	chr2	209025710	209025710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	gatctcagggagacggaacaGttctggaacacaggcgcagt	14	9	2	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr2:209025710G>T	ENST00000304502.4	-	3	362	c.343C>A	c.(343-345)Ctg>Atg	p.L115M		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	115	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGACGGAACAGTTCTGGAACA	0.562																																																	0													95	85	88					2																	209025710		2203	4300	6503	SO:0001583	missense	1418				CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.343C>A	2.37:g.209025710G>T	ENSP00000302105:p.Leu115Met		Q53ST5	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.L115M	ENST00000304502.4	37	c.343	CCDS33367.1	2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762109	0.31228	.	.	ENSG00000168582	ENST00000304502	T	0.75589	-0.95	4.69	3.81	0.43845	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.248567	0.41001	D	0.000966	T	0.58694	0.2140	N	0.11560	0.145	0.22787	N	0.998731	B	0.25105	0.118	B	0.38327	0.271	T	0.54390	-0.8301	10	0.62326	D	0.03	.	5.7961	0.18387	0.0982:0.0:0.7099:0.192	.	115	P11844	CRGA_HUMAN	M	115	ENSP00000302105:L115M	ENSP00000302105:L115M	L	-	1	2	CRYGA	208733955	0.001000	0.12720	0.684000	0.30055	0.003000	0.03518	0.844000	0.27654	1.315000	0.45114	0.650000	0.86243	CTG	CRYGA	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.562	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGA	HGNC	protein_coding	OTTHUMT00000337096.1	G	NM_014617		209025710	-1	no_errors	ENST00000304502	ensembl	human	known	70_37	missense	SNP	0.729	T	T	209025710	G	T	209025710	3	4	95	1	0	0	0	0	1	0	0	0	3919	1020	36	4	185	4	CRYGA	2	209025710	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09	36808688	209025710	34173663	8	13576										
NBEAL2	23218	genome.wustl.edu	37	chr3	47041727	47041727	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	gtggcggcagcagtgggactCttactccagccagccagccc	13	15	1	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr3:47041727C>G	ENST00000450053.3	+	27	4317	c.4138C>G	c.(4138-4140)Ctt>Gtt	p.L1380V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L1196V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1380					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGTGGGACTCTTACTCCAGC	0.637																																																	0													55	61	59					3																	47041727		2110	4218	6328	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4138C>G	3.37:g.47041727C>G	ENSP00000415034:p.Leu1380Val		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1380V	ENST00000450053.3	37	c.4138	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	C	5.831	0.337507	0.11013	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.45;0.47	5.48	-0.584	0.11702	.	1.019910	0.07824	N	0.960303	T	0.36248	0.0960	L	0.28115	0.83	0.24652	N	0.993513	B	0.02656	0.0	B	0.04013	0.001	T	0.26744	-1.0094	10	0.10636	T	0.68	.	11.253	0.49037	0.189:0.367:0.444:0.0	.	1380	Q6ZNJ1	NBEL2_HUMAN	V	1196;1380	ENSP00000292309:L1196V;ENSP00000415034:L1380V	ENSP00000292309:L1196V	L	+	1	0	NBEAL2	47016731	0.583000	0.26757	0.001000	0.08648	0.327000	0.28475	1.695000	0.37763	-0.449000	0.07117	0.561000	0.74099	CTT	NBEAL2	-	NULL		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	C	XM_291064		47041727	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.073	G	G	47041727	C	G	47041727	3	3	95	1	0	0	0	0	1	0	0	0	10212	913	32	1	4244	1	NBEAL2	3	47041727	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09		47041727	150980703	9	13577										
ANKRD50	57182	genome.wustl.edu	37	chr4	125590986	125590986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	cattaggtaaaccacgtaacGaaggctgcatatcccctcca	7	13	0	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr4:125590986G>A	ENST00000504087.1	-	4	4483	c.3446C>T	c.(3445-3447)tCg>tTg	p.S1149L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S970L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1149	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCACGTAACGAAGGCTGCAT	0.413																																																	0													145	139	141					4																	125590986		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3446C>T	4.37:g.125590986G>A	ENSP00000425658:p.Ser1149Leu		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S1149L	ENST00000504087.1	37	c.3446	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035720	0.54896	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68479	-0.33;-0.32	5.19	5.19	0.71726	.	0.302965	0.31415	N	0.007682	T	0.53206	0.1782	N	0.24115	0.695	0.40054	D	0.975814	B	0.22003	0.063	B	0.14578	0.011	T	0.50499	-0.8821	10	0.37606	T	0.19	.	15.5432	0.76074	0.0:0.1478:0.8522:0.0	.	1149	Q9ULJ7	ANR50_HUMAN	L	1149;970	ENSP00000425658:S1149L;ENSP00000425355:S970L	ENSP00000425658:S1149L	S	-	2	0	ANKRD50	125810436	1.000000	0.71417	0.934000	0.37439	0.936000	0.57629	4.680000	0.61656	2.698000	0.92095	0.561000	0.74099	TCG	ANKRD50	-	NULL		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	G	NM_020337		125590986	-1	no_errors	ENST00000504087	ensembl	human	known	70_37	missense	SNP	0.975	A	A	125590986	G	A	125590986	3	1	95	1	0	0	0	0	1	0	0	0	677	1059	37	1	847	1	ANKRD50	4	125590986	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		125590986	65563290	10	13578										
FBXO4	26272	genome.wustl.edu	37	chr5	41927154	41927154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ttttgtcctttctttcacctCatgatctgtgtcagttggga	8	9	5	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr5:41927154C>T	ENST00000281623.3	+	2	285	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	FBXO4_ENST00000296812.2_Missense_Mutation_p.H77Y|FBXO4_ENST00000509134.1_Missense_Mutation_p.H77Y	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	77	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTTCACCTCATGATCTGTG	0.358																																																	0													152	150	151					5																	41927154		2203	4300	6503	SO:0001583	missense	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.229C>T	5.37:g.41927154C>T	ENSP00000281623:p.His77Tyr		Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.H77Y	ENST00000281623.3	37	c.229	CCDS3938.1	5	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507205	0.27036	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.54071	0.59;0.59;0.59	5.54	4.68	0.58851	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.337088	0.35772	N	0.002999	T	0.44705	0.1306	L	0.51422	1.61	0.26218	N	0.979196	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.33394	-0.9870	10	0.33141	T	0.24	-11.9419	10.0023	0.41935	0.1379:0.7906:0.0:0.0715	.	77;77;77	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	Y	77	ENSP00000296812:H77Y;ENSP00000281623:H77Y;ENSP00000421749:H77Y	ENSP00000281623:H77Y	H	+	1	0	FBXO4	41962911	0.868000	0.29978	0.939000	0.37840	0.973000	0.67179	1.734000	0.38166	1.343000	0.45638	0.655000	0.94253	CAT	FBXO4	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.358	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	HGNC	protein_coding	OTTHUMT00000211614.1	C			41927154	1	no_errors	ENST00000281623	ensembl	human	known	70_37	missense	SNP	0.498	T	T	41927154	C	T	41927154	3	4	95	1	0	0	0	0	1	0	0	0	5766	826	29	1	235	1	FBXO4	5	41927154	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09		41927154	138988106	11	13579										
GCNT4	51301	genome.wustl.edu	37	chr5	74324664	74324664	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	aatgtccatctttgataagcCaccttaattctgcagctcca	5	12	2	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr5:74324664C>T	ENST00000322348.4	-	1	2060	c.1199G>A	c.(1198-1200)tGg>tAg	p.W400*		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	400					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTTGATAAGCCACCTTAATTC	0.403																																																	0													101	99	100					5																	74324664		2203	4300	6503	SO:0001587	stop_gained	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1199G>A	5.37:g.74324664C>T	ENSP00000317027:p.Trp400*			Nonsense_Mutation	SNP	pfam_Glyco_trans_14	p.W400*	ENST00000322348.4	37	c.1199	CCDS4026.1	5	.	.	.	.	.	.	.	.	.	.	.	45	11.736312	0.99597	.	.	ENSG00000176928	ENST00000322348	.	.	.	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0375	15.566	0.76294	0.0:0.934:0.0:0.066	.	.	.	.	X	400	.	ENSP00000317027:W400X	W	-	2	0	GCNT4	74360420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	1.573000	0.49748	0.650000	0.86243	TGG	GCNT4	-	pfam_Glyco_trans_14		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1	C	NM_016591		74324664	-1	no_errors	ENST00000322348	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74324664	C	T	74324664	4	4	95	1	0	0	0	0	0	1	0	0	6322	595	21	4	166	4	GCNT4	5	74324664	Nonsense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	32397510	74324664	106590596	12	13580										
ZKSCAN1	7586	genome.wustl.edu	37	chr7	99621384	99621384	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	gaactttgtcatcagtggctGcggccagaaataaacaccaa	9	10	2	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr7:99621384G>T	ENST00000324306.6	+	2	489	c.255G>T	c.(253-255)ctG>ctT	p.L85L	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Silent_p.L49L	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	85	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATCAGTGGCTGCGGCCAGAAA	0.537																																																	0													62	68	66					7																	99621384		2203	4300	6503	SO:0001819	synonymous_variant	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.255G>T	7.37:g.99621384G>T			A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L85	ENST00000324306.6	37	c.255	CCDS34698.1	7																																																																																			ZKSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.537	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	G	NM_003439		99621384	1	no_errors	ENST00000324306	ensembl	human	known	70_37	silent	SNP	0.033	T	T	99621384	G	T	99621384	2	4	95	1	0	0	0	0	0	0	0	1	17716	1306	46	4		4	ZKSCAN1	7	99621384	Silent	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		99621384	59517279	13	13581										
SGK223	157285	genome.wustl.edu	37	chr8	8176083	8176083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ccgcagctgggcgcgcacctCgaacgggttgggttggtgca	17	12	0	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr8:8176083C>T	ENST00000520004.1	-	6	4066	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	SGK223_ENST00000330777.4_Missense_Mutation_p.E1268K			Q86YV5	SG223_HUMAN		1272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCGCGCACCTCGAACGGGTTG	0.657																																					GBM(34;731 755 10259 33573 33867)												0													25	30	29					8																	8176083		2028	4167	6195	SO:0001583	missense	157285																														ENST00000520004.1:c.3802G>A	8.37:g.8176083C>T	ENSP00000428054:p.Glu1268Lys		Q8N3N5	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,pfscan_Prot_kinase_cat_dom	p.E1268K	ENST00000520004.1	37	c.3802	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.218153	0.95104	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.64803	-0.12;-0.12	5.48	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.46885	1.475	0.52099	D	0.999944	D	0.76494	0.999	D	0.63793	0.918	T	0.71745	-0.4500	10	0.66056	D	0.02	.	13.1563	0.59520	0.0:0.923:0.0:0.077	.	1268	Q86YV5	SG223_HUMAN	K	1268	ENSP00000330930:E1268K;ENSP00000428054:E1268K	ENSP00000330930:E1268K	E	-	1	0	AC068353.1	8213493	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.005000	0.70716	2.748000	0.94277	0.462000	0.41574	GAG	SGK223	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	C			8176083	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8176083	C	T	8176083	3	4	95	1	0	0	0	0	1	0	0	0	14240	893	31	1	410	1	SGK223	8	8176083	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09		8176083	138187939	14	13582										
CNBD1	168975	genome.wustl.edu	37	chr8	88249266	88249266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	cgttcatatctcagagtttcCacagcttcatttggagtgaa	8	9	3	2			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr8:88249266C>T	ENST00000518476.1	+	6	748	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	233										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAGAGTTTCCACAGCTTCAT	0.378																																																	0													112	103	106					8																	88249266		1859	4104	5963	SO:0001583	missense	168975			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.697C>T	8.37:g.88249266C>T	ENSP00000430073:p.His233Tyr			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.H233Y	ENST00000518476.1	37	c.697	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601264	0.13939	.	.	ENSG00000176571	ENST00000518476	T	0.17528	2.27	4.07	-0.588	0.11687	Cyclic nucleotide-binding-like (1);	2.850900	0.00988	N	0.003489	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31081	-0.9956	10	0.62326	D	0.03	1.2052	3.8509	0.08954	0.4951:0.2937:0.0:0.2112	.	233	Q8NA66	CNBD1_HUMAN	Y	233	ENSP00000430073:H233Y	ENSP00000430073:H233Y	H	+	1	0	CNBD1	88318382	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.132000	0.10467	-0.134000	0.11516	-0.150000	0.13652	CAC	CNBD1	-	superfamily_cNMP-bd-like		0.378	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	C	NM_173538		88249266	1	no_errors	ENST00000518476	ensembl	human	known	70_37	missense	SNP	0.000	T	T	88249266	C	T	88249266	3	4	95	1	0	0	0	0	1	0	0	0	3596	594	21	4	719	4	CNBD1	8	88249266	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	80073183	88249266	58114756	15	13583										
VENTX	27287	genome.wustl.edu	37	chr10	135051484	135051484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	agctttggctccgtggactgGctctcccagagcagctgctc	12	14	1	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr10:135051484G>T	ENST00000325980.9	+	1	577	c.66G>T	c.(64-66)tgG>tgT	p.W22C		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	22					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCGTGGACTGGCTCTCCCAGA	0.736																																																	0													7	9	8					10																	135051484		2134	4249	6383	SO:0001583	missense	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.66G>T	10.37:g.135051484G>T	ENSP00000357556:p.Trp22Cys		Q32MZ3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.W22C	ENST00000325980.9	37	c.66	CCDS7675.1	10	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641525	0.47153	.	.	ENSG00000151650	ENST00000325980	T	0.56444	0.46	2.44	2.44	0.29823	.	0.000000	0.85682	U	0.000000	T	0.53400	0.1794	N	0.24115	0.695	0.43381	D	0.995482	D	0.76494	0.999	D	0.79784	0.993	T	0.54077	-0.8347	10	0.54805	T	0.06	.	8.3857	0.32499	0.0:0.0:1.0:0.0	.	22	O95231	VENTX_HUMAN	C	22	ENSP00000357556:W22C	ENSP00000357556:W22C	W	+	3	0	VENTX	134901474	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	2.532000	0.45659	1.387000	0.46486	0.393000	0.25936	TGG	VENTX	-	NULL		0.736	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VENTX	HGNC	protein_coding	OTTHUMT00000051116.4	G	NM_014468		135051484	1	no_errors	ENST00000325980	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135051484	G	T	135051484	3	4	95	1	0	0	0	0	1	0	0	0	17184	1212	42	4	68	4	VENTX	10	135051484	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		135051484	483263	16	13584										
DSCAML1	57453	genome.wustl.edu	37	chr11	117374667	117374667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ggacgtggcggatcagcagcGagctgttgggcaggatctgg	19	8	2	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr11:117374667G>A	ENST00000321322.6	-	11	2433	c.2432C>T	c.(2431-2433)tCg>tTg	p.S811L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S541L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	751	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GATCAGCAGCGAGCTGTTGGG	0.622																																																	0													108	93	98					11																	117374667		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2432C>T	11.37:g.117374667G>A	ENSP00000315465:p.Ser811Leu		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S811L	ENST00000321322.6	37	c.2432	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.091828	0.94149	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68903	-0.36;-0.36	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80660	0.4665	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.83850	0.0262	9	0.87932	D	0	.	16.9369	0.86205	0.0:0.0:1.0:0.0	.	751	Q8TD84	DSCL1_HUMAN	L	541;811;518	ENSP00000434335:S541L;ENSP00000315465:S811L	ENSP00000315465:S811L	S	-	2	0	DSCAML1	116879877	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.597000	0.98273	2.237000	0.73441	0.462000	0.41574	TCG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117374667	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117374667	G	A	117374667	3	1	95	1	0	0	0	0	1	0	0	0	4779	1059	37	1	4001	1	DSCAML1	11	117374667	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		117374667	17631849	17	13585										
C11orf63	79864	genome.wustl.edu	37	chr11	122795698	122795698	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	atcctgaagataaatggcatCaaagagcacaacagctaaag	8	8	1	3			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr11:122795698C>T	ENST00000531316.1	+	3	1050	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	RNU4-23P_ENST00000362839.1_RNA|C11orf63_ENST00000227349.2_Nonsense_Mutation_p.Q320*			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	320					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAATGGCATCAAAGAGCACA	0.408																																																	0													157	132	140					11																	122795698		2202	4299	6501	SO:0001587	stop_gained	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.958C>T	11.37:g.122795698C>T	ENSP00000431669:p.Gln320*		A8K6G0|Q96GB5|Q9H5D6	Nonsense_Mutation	SNP	NULL	p.Q320*	ENST00000531316.1	37	c.958	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.738098	0.97801	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	.	.	.	5.98	5.06	0.68205	.	0.234538	0.30338	N	0.009844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.4882	13.63	0.62189	0.1552:0.8448:0.0:0.0	.	.	.	.	X	320	.	ENSP00000227349:Q320X	Q	+	1	0	C11orf63	122300908	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.065000	0.49994	1.514000	0.48869	0.563000	0.77884	CAA	C11orf63	-	NULL		0.408	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	C	NM_024806		122795698	1	no_errors	ENST00000227349	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	122795698	C	T	122795698	4	4	95	1	0	0	0	0	0	1	0	0	1658	827	29	1	1032	1	C11orf63	11	122795698	Nonsense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	5421031	122795698	12210818	18	13586										
MON2	23041	genome.wustl.edu	37	chr12	62918307	62918307	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	atttttaggtaactgaatgtGagatatttctgtcacttctg	8	5	3	2			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr12:62918307G>A	ENST00000393632.2	+	9	1388	c.997G>A	c.(997-999)Gag>Aag	p.E333K	MON2_ENST00000552738.1_Missense_Mutation_p.E333K|MON2_ENST00000393629.2_Missense_Mutation_p.E333K|MON2_ENST00000552115.1_Missense_Mutation_p.E333K|MON2_ENST00000393630.3_Missense_Mutation_p.E333K|MON2_ENST00000546600.1_Missense_Mutation_p.E333K|MON2_ENST00000280379.6_Missense_Mutation_p.E333K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	333					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTGAATGTGAGATATTTCT	0.353																																																	0													53	55	54					12																	62918307		2203	4300	6503	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.997G>A	12.37:g.62918307G>A	ENSP00000377252:p.Glu333Lys		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.E333K	ENST00000393632.2	37	c.997	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.364215	0.95877	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.97110	1.0;0.991;0.992;0.999	T	0.83097	-0.0130	9	.	.	.	-14.9822	19.0331	0.92965	0.0:0.0:1.0:0.0	.	333;333;333;333	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	K	333;333;333;333;261;333;333;333	ENSP00000377252:E333K;ENSP00000377250:E333K;ENSP00000280379:E333K;ENSP00000447407:E333K;ENSP00000449215:E333K;ENSP00000377249:E333K;ENSP00000446635:E333K	.	E	+	1	0	MON2	61204574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.176000	0.94839	2.802000	0.96397	0.655000	0.94253	GAG	MON2	-	superfamily_ARM-type_fold		0.353	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	G	NM_015026		62918307	1	no_errors	ENST00000393630	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62918307	G	A	62918307	3	1	95	1	0	0	0	0	1	0	0	0	9723	1291	45	1	1031	1	MON2	12	62918307	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		62918307	70933588	19	13587										
TBC1D4	9882	genome.wustl.edu	37	chr13	75923387	75923387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ctgcgtcttggcactctgcaGggcagccgccgtactgaagg	14	13	2	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr13:75923387G>A	ENST00000377636.3	-	5	1673	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	TBC1D4_ENST00000431480.2_Silent_p.L443L|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.L443L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	443	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCACTCTGCAGGGCAGCCGCC	0.473																																																	0													49	53	51					13																	75923387		1930	4142	6072	SO:0001819	synonymous_variant	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1327C>T	13.37:g.75923387G>A			A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.L443	ENST00000377636.3	37	c.1327	CCDS41901.1	13																																																																																			TBC1D4	-	smart_PTyr_interaction_dom		0.473	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	G	NM_014832		75923387	-1	no_errors	ENST00000377636	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75923387	G	A	75923387	2	1	95	1	0	0	0	0	0	0	0	1	15652	991	35	4		4	TBC1D4	13	75923387	Silent	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		75923387	39246491	20	13588										
HERC2	8924	genome.wustl.edu	37	chr15	28358750	28358750	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	gttcgtagccggtgaacagaGagaggaggggaacaggcaca	17	7	0	3			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr15:28358750G>C	ENST00000261609.7	-	91	14096	c.13988C>G	c.(13987-13989)tCt>tGt	p.S4663C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTGAACAGAGAGAGGAGGGG	0.562																																																	0													114	105	108					15																	28358750		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13988C>G	15.37:g.28358750G>C	ENSP00000261609:p.Ser4663Cys			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S4663C	ENST00000261609.7	37	c.13988	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450564	0.63290	.	.	ENSG00000128731	ENST00000261609	T	0.60040	0.22	5.33	5.33	0.75918	HECT (4);	0.065119	0.64402	N	0.000005	T	0.77844	0.4191	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.612	P;B	0.59761	0.863;0.412	T	0.82460	-0.0446	10	0.87932	D	0	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4663;352	O95714;Q8ND39	HERC2_HUMAN;.	C	4663	ENSP00000261609:S4663C	ENSP00000261609:S4663C	S	-	2	0	HERC2	26032345	1.000000	0.71417	0.907000	0.35723	0.042000	0.13812	9.829000	0.99411	2.503000	0.84419	0.561000	0.74099	TCT	HERC2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28358750	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28358750	G	C	28358750	3	2	95	1	0	0	0	0	1	0	0	0	7078	942	33	1	528	1	HERC2	15	28358750	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		28358750	74172642	21	13589										
NLRP1	22861	genome.wustl.edu	37	chr17	5456859	5456859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	tctgccaataggcatctgtgActgggacccacctgaacctg	10	13	2	2			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:5456859A>T	ENST00000572272.1	-	5	2374	c.2375T>A	c.(2374-2376)gTc>gAc	p.V792D	NLRP1_ENST00000262467.5_Missense_Mutation_p.V792D|NLRP1_ENST00000354411.3_Missense_Mutation_p.V792D|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.V792D|NLRP1_ENST00000269280.4_Missense_Mutation_p.V792D|NLRP1_ENST00000345221.3_Missense_Mutation_p.V792D			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	792					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCATCTGTGACTGGGACCCA	0.562																																																	0													75	68	71					17																	5456859		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2375T>A	17.37:g.5456859A>T	ENSP00000460475:p.Val792Asp		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.V792D	ENST00000572272.1	37	c.2375	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	A	13.23	2.176145	0.38413	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	3.89	1.67	0.24075	.	0.844837	0.09650	N	0.773854	T	0.51415	0.1673	L	0.54323	1.7	0.28796	N	0.899052	P;P;P;P;P;P	0.51147	0.897;0.941;0.941;0.835;0.942;0.835	P;P;P;B;P;P	0.47705	0.543;0.555;0.474;0.342;0.543;0.514	T	0.47686	-0.9098	10	0.72032	D	0.01	.	5.6284	0.17495	0.7756:0.0:0.2244:0.0	.	58;792;792;792;792;792	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	D	792;792;792;792;792;58	ENSP00000442029:V792D;ENSP00000262467:V792D;ENSP00000269280:V792D;ENSP00000346390:V792D;ENSP00000324366:V792D	ENSP00000262467:V792D	V	-	2	0	NLRP1	5397583	0.245000	0.23899	0.022000	0.16811	0.011000	0.07611	2.650000	0.46665	0.330000	0.23485	-0.274000	0.10170	GTC	NLRP1	-	NULL		0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	A	NM_033004		5456859	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.504	T	T	5456859	A	T	5456859	3	4	95	1	0	0	0	0	1	0	0	0	10495	275	10	5	2173	5	NLRP1	17	5456859	Missense_Mutation	SNP	A	TCGA-EK-A2H1-01A-11D-A17W-09		5456859	75738351	22	13590										
CYTSB	92521	genome.wustl.edu	37	chr17	20108175	20108175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ggggcagcaagtcacactggCgacagcagctgcccaacatc	12	14	1	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:20108175C>T	ENST00000261503.5	+	4	864	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SPECC1_ENST00000395525.3_Silent_p.G190G|SPECC1_ENST00000395522.2_Silent_p.G190G|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395529.3_Silent_p.G271G|SPECC1_ENST00000395527.4_Silent_p.G271G|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395530.2_Silent_p.G190G	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	271	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTCACACTGGCGACAGCAGCT	0.463																																																	0													67	77	74					17																	20108175		2203	4300	6503	SO:0001819	synonymous_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.813C>T	17.37:g.20108175C>T			B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G271	ENST00000261503.5	37	c.813	CCDS32590.1	17																																																																																			SPECC1	-	NULL		0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	C	NM_152904		20108175	1	no_errors	ENST00000261503	ensembl	human	known	70_37	silent	SNP	0.004	T	T	20108175	C	T	20108175	2	4	95	1	0	0	0	0	0	0	0	1	4215	755	27	2		2	CYTSB	17	20108175	Silent	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	14651316	20108175	61087035	23	13591										
SECTM1	6398	genome.wustl.edu	37	chr17	80280224	80280224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	gggctgcgaccttcatctggGgttctaggaggaagaacttc	14	9	3	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr17:80280224G>T	ENST00000269389.3	-	5	910	c.560C>A	c.(559-561)cCc>cAc	p.P187H	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	187					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTTCATCTGGGGTTCTAGGAG	0.677																																																	0													53	60	57					17																	80280224		2203	4300	6503	SO:0001583	missense	6398			U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"K12 protein", "type 1a transmembrane protein"	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.560C>A	17.37:g.80280224G>T	ENSP00000269389:p.Pro187His		B2R7H0|O00466	Missense_Mutation	SNP	NULL	p.P187H	ENST00000269389.3	37	c.560	CCDS11808.1	17	.	.	.	.	.	.	.	.	.	.	G	6.322	0.427496	0.11987	.	.	ENSG00000141574	ENST00000269389	.	.	.	0.965	-1.35	0.09114	.	.	.	.	.	T	0.22437	0.0541	N	0.14661	0.345	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.52514	0.701;0.701	T	0.13845	-1.0494	8	0.87932	D	0	.	4.0098	0.09618	0.5066:0.0:0.4934:0.0	.	187;187	Q8WVN6;A8K3U3	SCTM1_HUMAN;.	H	187	.	ENSP00000269389:P187H	P	-	2	0	SECTM1	77873513	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.561000	0.05957	-0.493000	0.06678	-0.444000	0.05651	CCC	SECTM1	-	NULL		0.677	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECTM1	HGNC	protein_coding	OTTHUMT00000442856.1	G	NM_003004		80280224	-1	no_errors	ENST00000269389	ensembl	human	known	70_37	missense	SNP	0.000	T	T	80280224	G	T	80280224	3	4	95	1	0	0	0	0	1	0	0	0	14038	1232	43	4	190	4	SECTM1	17	80280224	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09	60172049	80280224	914986	24	13592										
ZNF177	7730	genome.wustl.edu	37	chr19	9491580	9491580	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ttcaatcaagagtcatccctCaggaaacacttaagaactcc	5	12	4	2			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:9491580C>T	ENST00000589262.1	+	6	639	c.573C>T	c.(571-573)ctC>ctT	p.L191L	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Silent_p.L191L|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	191					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AGTCATCCCTCAGGAAACACT	0.423																																																	0																																										SO:0001819	synonymous_variant	7730			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.573C>T	19.37:g.9491580C>T			B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L191	ENST00000589262.1	37	c.573	CCDS54214.1	19																																																																																			ZNF177	-	pfscan_Znf_C2H2		0.423	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	C	NM_003451		9491580	1	no_errors	ENST00000434737	ensembl	human	known	70_37	silent	SNP	0.000	T	T	9491580	C	T	9491580	2	4	95	1	0	0	0	0	0	0	0	1	17776	813	29	1		1	ZNF177	19	9491580	Silent	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09		9491580	49637403	25	13593										
GLTSCR1	29998	genome.wustl.edu	37	chr19	48202003	48202003	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	tcctgccctaccatgtctacCagggcgccctcccctccccc	6	23	1	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:48202003C>G	ENST00000396720.3	+	12	3555	c.3361C>G	c.(3361-3363)Cag>Gag	p.Q1121E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1121										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCATGTCTACCAGGGCGCCCT	0.662											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32	33	33					19																	48202003		1963	4147	6110	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3361C>G	19.37:g.48202003C>G	ENSP00000379946:p.Gln1121Glu	952	A8MW01	Missense_Mutation	SNP	NULL	p.Q1121E	ENST00000396720.3	37	c.3361	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	c	18.45	3.626589	0.66901	.	.	ENSG00000063169	ENST00000396720	T	0.35421	1.31	4.27	4.27	0.50696	.	.	.	.	.	T	0.52613	0.1745	L	0.55990	1.75	0.48762	D	0.999704	D	0.64830	0.994	D	0.63283	0.913	T	0.57260	-0.7842	9	0.72032	D	0.01	.	15.6207	0.76805	0.0:1.0:0.0:0.0	.	1121	Q9NZM4	GSCR1_HUMAN	E	1121	ENSP00000379946:Q1121E	ENSP00000379946:Q1121E	Q	+	1	0	GLTSCR1	52893815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.357000	0.79456	2.222000	0.72286	0.556000	0.70494	CAG	GLTSCR1	-	NULL		0.662	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	C	NM_015711		48202003	1	no_errors	ENST00000396720	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48202003	C	G	48202003	3	3	95	1	0	0	0	0	1	0	0	0	6493	595	21	4	3399	4	GLTSCR1	19	48202003	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	38710423	48202003	10926980	26	13594										
BCAT2	587	genome.wustl.edu	37	chr19	49298713	49298713	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	aacatccactcgtgggctctGattccgtactgcggaacaac	9	13	1	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr19:49298713G>C	ENST00000316273.6	-	11	1161	c.1149C>G	c.(1147-1149)atC>atG	p.I383M	BCAT2_ENST00000597011.1_Missense_Mutation_p.I343M|BCAT2_ENST00000545387.2_Missense_Mutation_p.I291M|BCAT2_ENST00000402551.1_Missense_Mutation_p.I343M|RNU6-317P_ENST00000384031.1_RNA	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	383					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	CGTGGGCTCTGATTCCGTACT	0.617											OREG0025609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106	68	81					19																	49298713		2203	4300	6503	SO:0001583	missense	587			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1149C>G	19.37:g.49298713G>C	ENSP00000322991:p.Ile383Met	961	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.I383M	ENST00000316273.6	37	c.1149	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	G	8.882	0.951888	0.18431	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.17054	2.3;2.3;2.3	4.68	-9.37	0.00626	.	0.415663	0.23668	N	0.045747	T	0.08758	0.0217	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.001	T	0.15578	-1.0432	10	0.59425	D	0.04	-5.2067	5.1708	0.15108	0.151:0.4406:0.3175:0.0909	.	291;383	O15382-2;O15382	.;BCAT2_HUMAN	M	383;291;343	ENSP00000322991:I383M;ENSP00000440973:I291M;ENSP00000385161:I343M	ENSP00000322991:I383M	I	-	3	3	BCAT2	53990525	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-2.749000	0.00793	-3.979000	0.00085	-0.270000	0.10280	ATC	BCAT2	-	superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.617	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	G			49298713	-1	no_errors	ENST00000316273	ensembl	human	known	70_37	missense	SNP	0.000	C	C	49298713	G	C	49298713	3	2	95	1	0	0	0	0	1	0	0	0	1356	1280	45	1	33	1	BCAT2	19	49298713	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09	1096710	49298713	9830270	27	13595										
NF2	4771	genome.wustl.edu	37	chr22	30070877	30070877	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	tgcaggaagcacgcgaggcgGagcgaagagccaagcagaag	17	9	0	2			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:30070877G>T	ENST00000338641.4	+	13	1834	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	NF2_ENST00000361452.4_Nonsense_Mutation_p.E424*|NF2_ENST00000347330.5_Missense_Mutation_p.G192V|NF2_ENST00000397789.3_Nonsense_Mutation_p.E465*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E465*|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Nonsense_Mutation_p.E423*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E465*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E382*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E436*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E382*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	465	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)|p.E465fs*20(1)|p.Q459fs*25(1)|p.A464fs*24(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACGCGAGGCGGAGCGAAGAGC	0.607			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	7	Unknown(4)|Deletion - Frameshift(2)|Complex - frameshift(1)	meninges(2)|large_intestine(1)|soft_tissue(1)|central_nervous_system(1)|stomach(1)|kidney(1)	GRCh37	CM035747	NF2	M							36	33	34					22																	30070877		2189	4269	6458	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1393G>T	22.37:g.30070877G>T	ENSP00000344666:p.Glu465*		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.E465*	ENST00000338641.4	37	c.1393	CCDS13861.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.626734|7.626734	0.98396|0.98396	.|.	.|.	ENSG00000186575|ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166|ENST00000347330	.|D	.|0.94828	.|-3.53	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.094718|.	0.64402|.	D|.	0.000001|.	.|D	.|0.96648	.|0.8906	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.95918	.|0.8928	.|5	.|.	.|.	.|.	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	465;436;424;440;465;382;382;465;423;465|192	.|ENSP00000335160:G192V	.|.	E|G	+|+	1|2	0|0	NF2|NF2	28400877|28400877	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.322000|0.322000	0.28314|0.28314	9.860000|9.860000	0.99555|0.99555	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAG|GGA	NF2	-	pirsf_ERM,pfam_ERM_C		0.607	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	G	NM_000268		30070877	1	no_errors	ENST00000338641	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	30070877	G	T	30070877	4	4	95	1	0	0	0	0	0	1	0	0	10381	1175	41	3	1443	3	NF2	22	30070877	Nonsense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09		30070877	21233689	28	13596										
SEC14L4	284904	genome.wustl.edu	37	chr22	30887561	30887561	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	taaaccccgcagctcttacaGacgccagcctggaggcaggt	11	14	1	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:30887561G>C	ENST00000255858.7	-	11	1163	c.1080C>G	c.(1078-1080)gtC>gtG	p.V360V	SEC14L4_ENST00000540456.1_Splice_Site_p.V345V|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Splice_Site_p.V360V|SEC14L4_ENST00000392772.2_Splice_Site_p.V306V|RP4-539M6.14_ENST00000442126.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	360	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCTCTTACAGACGCCAGCCT	0.602																																																	0													61	61	61					22																	30887561		2203	4300	6503	SO:0001630	splice_region_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1081+1C>G	22.37:g.30887561G>C			A5D6W7|A6NCV4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.V360	ENST00000255858.7	37	c.1080	CCDS13878.1	22																																																																																			SEC14L4	-	superfamily_GOLD,pfscan_GOLD		0.602	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	G	NM_174977	Silent	30887561	-1	no_errors	ENST00000255858	ensembl	human	known	70_37	silent	SNP	1.000	C	C	30887561	G	C	30887561	5	2	95	1	0	0	0	0	0	0	1	0	14014	956	33	1	154	1	SEC14L4	22	30887561	Splice_Site	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09	816684	30887561	20417005	29	13597										
TCF20	6942	genome.wustl.edu	37	chr22	42609199	42609199	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	atctttgtaactatagcgcaGacttccaggagatttgctag	9	8	1	2			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chr22:42609199G>C	ENST00000359486.3	-	1	2249	c.2113C>G	c.(2113-2115)Ctg>Gtg	p.L705V	TCF20_ENST00000335626.4_Missense_Mutation_p.L705V|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTATAGCGCAGACTTCCAGGA	0.507																																																	0													134	130	131					22																	42609199		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2113C>G	22.37:g.42609199G>C	ENSP00000352463:p.Leu705Val		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.L705V	ENST00000359486.3	37	c.2113	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	7.479	0.648276	0.14516	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.93	2.65	0.31530	.	0.264521	0.27581	N	0.018728	T	0.36744	0.0978	N	0.19112	0.55	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.10800	-1.0614	10	0.46703	T	0.11	-5.2009	4.7804	0.13199	0.3002:0.2789:0.4209:0.0	.	705;705	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	705	ENSP00000352463:L705V;ENSP00000335561:L705V	ENSP00000335561:L705V	L	-	1	2	TCF20	40939143	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.136000	0.31467	0.371000	0.24564	0.655000	0.94253	CTG	TCF20	-	NULL		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	G	NM_181492		42609199	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	0.998	C	C	42609199	G	C	42609199	3	2	95	1	0	0	0	0	1	0	0	0	15720	933	33	1	3807	1	TCF20	22	42609199	Missense_Mutation	SNP	G	TCGA-EK-A2H1-01A-11D-A17W-09	11721638	42609199	8695367	30	13598										
RBM3	5935	genome.wustl.edu	37	chrX	48434778	48434778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	cagaggaggtggctttggggCccatgggcgtggtcgcagct	19	9	0	1			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chrX:48434778C>T	ENST00000376759.3	+	4	350	c.287C>T	c.(286-288)gCc>gTc	p.A96V	RBM3_ENST00000376755.1_Missense_Mutation_p.A96V|RBM3_ENST00000430348.2_Missense_Mutation_p.P69S|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000354480.2_Missense_Mutation_p.P69S|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	96	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGCTTTGGGGCCCATGGGCGT	0.547																																																	0													65	52	57					X																	48434778		2203	4300	6503	SO:0001583	missense	5935			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.287C>T	X.37:g.48434778C>T	ENSP00000365950:p.Ala96Val			Missense_Mutation	SNP	NULL	p.P69S	ENST00000376759.3	37	c.205	CCDS14301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.85|12.85	2.062554|2.062554	0.36373|0.36373	.|.	.|.	ENSG00000102317|ENSG00000102317	ENST00000376759;ENST00000376755|ENST00000430348;ENST00000354480	T;T|.	0.74209|.	-0.82;-0.82|.	4.57|4.57	-1.16|-1.16	0.09678|0.09678	.|.	964.516000|.	0.01815|.	U|.	0.033663|.	T|T	0.37652|0.37652	0.1011|0.1011	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|.	0.18461|.	0.028|.	B|.	0.08055|.	0.003|.	T|T	0.43814|0.43814	-0.9368|-0.9368	10|6	0.54805|0.87932	T|D	0.06|0	-0.1293|-0.1293	9.8635|9.8635	0.41129|0.41129	0.0:0.382:0.5285:0.0894|0.0:0.382:0.5285:0.0894	.|.	96|.	P98179|.	RBM3_HUMAN|.	V|S	96|69	ENSP00000365950:A96V;ENSP00000365946:A96V|.	ENSP00000365946:A96V|ENSP00000346473:P69S	A|P	+|+	2|1	0|0	RBM3|RBM3	48319722|48319722	0.988000|0.988000	0.35896|0.35896	0.896000|0.896000	0.35187|0.35187	0.732000|0.732000	0.41865|0.41865	0.746000|0.746000	0.26275|0.26275	-0.161000|-0.161000	0.10983|0.10983	-0.305000|-0.305000	0.09177|0.09177	GCC|CCC	RBM3	-	NULL		0.547	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1	C	NM_006743		48434778	1	no_errors	ENST00000430348	ensembl	human	known	70_37	missense	SNP	0.332	T	T	48434778	C	T	48434778	3	4	95	1	0	0	0	0	1	0	0	0	13159	739	26	4	297	4	RBM3	23	48434778	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09		48434778	106835782	31	13599										
CDX4	1046	genome.wustl.edu	37	chrX	72667526	72667526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.3125	10	0.000322718112270109	3.75	5.625	2.8125	1	1	7	ggacgcaggcgccgccaaggCcagttcccccagcaggagcc	14	17	0	0			TCGA-EK-A2H1-01A-11D-A17W-09	TCGA-EK-A2H1-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e18b908-26a3-4f67-9d6d-cfc889c2ec18	6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e	g.chrX:72667526C>G	ENST00000373514.2	+	1	437	c.437C>G	c.(436-438)gCc>gGc	p.A146G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	146					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCGCCAAGGCCAGTTCCCCC	0.642																																																	0													22	22	22					X																	72667526		2169	4229	6398	SO:0001583	missense	1046			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.437C>G	X.37:g.72667526C>G	ENSP00000362613:p.Ala146Gly		A1A513|Q5JS20	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.A146G	ENST00000373514.2	37	c.437	CCDS14424.1	X	.	.	.	.	.	.	.	.	.	.	.	2.803	-0.248689	0.05867	.	.	ENSG00000131264	ENST00000373514	T	0.46819	0.86	2.32	2.32	0.28847	Caudal-like activation domain (1);	1.103290	0.07052	N	0.832130	T	0.48892	0.1525	M	0.62723	1.935	0.23510	N	0.997521	P	0.38711	0.643	B	0.42245	0.381	T	0.38222	-0.9671	10	0.21540	T	0.41	-0.0441	10.0073	0.41964	0.0:1.0:0.0:0.0	.	146	O14627	CDX4_HUMAN	G	146	ENSP00000362613:A146G	ENSP00000362613:A146G	A	+	2	0	CDX4	72584251	0.003000	0.15002	0.106000	0.21319	0.135000	0.20990	0.308000	0.19314	1.458000	0.47871	0.432000	0.28606	GCC	CDX4	-	pfam_Caudal_activation_dom		0.642	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX4	HGNC	protein_coding	OTTHUMT00000057229.2	C	NM_005193		72667526	1	no_errors	ENST00000373514	ensembl	human	known	70_37	missense	SNP	0.545	G	G	72667526	C	G	72667526	3	3	95	1	0	0	0	0	1	0	0	0	3189	739	26	4	439	4	CDX4	23	72667526	Missense_Mutation	SNP	C	TCGA-EK-A2H1-01A-11D-A17W-09	24232748	72667526	82603034	32	13600										
PLEKHG5	57449	genome.wustl.edu	37	chr1	6556607	6556607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttctgacagcgcagtcccttCttttcagcggggctctggtc	11	13	4	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:6556607C>G	ENST00000400915.3	-	2	93	c.27G>C	c.(25-27)aaG>aaC	p.K9N	PLEKHG5_ENST00000377732.1_5'UTR|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.K30N|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.K32N|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.K30N	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	9					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGTCCCTTCTTTTCAGCGG	0.706																																																	0													35	39	37					1																	6556607		1912	4112	6024	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.27G>C	1.37:g.6556607C>G	ENSP00000383706:p.Lys9Asn		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K32N	ENST00000400915.3	37	c.96	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148539	0.37923	.	.	ENSG00000171680	ENST00000377748;ENST00000400915;ENST00000377740;ENST00000537245	T;T;T;T	0.66638	-0.21;-0.21;-0.21;-0.22	4.74	3.8	0.43715	.	1.069190	0.07334	N	0.879628	T	0.51907	0.1702	N	0.14661	0.345	0.80722	D	1	B;B;B	0.22146	0.039;0.065;0.037	B;B;B	0.24155	0.016;0.051;0.023	T	0.41592	-0.9500	10	0.72032	D	0.01	-6.6298	8.4798	0.33036	0.0:0.8845:0.0:0.1155	.	30;30;9	Q5SY18;O94827-2;O94827	.;.;PKHG5_HUMAN	N	30;9;30;32	ENSP00000366977:K30N;ENSP00000383706:K9N;ENSP00000366969:K30N;ENSP00000439625:K32N	ENSP00000366969:K30N	K	-	3	2	PLEKHG5	6479194	0.831000	0.29352	0.963000	0.40424	0.481000	0.33189	0.793000	0.26944	1.064000	0.40671	0.609000	0.83330	AAG	PLEKHG5	-	NULL		0.706	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6556607	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6556607	C	G	6556607	3	3	96	1	0	0	0	0	1	0	0	0	12097	912	32	1	3245	1	PLEKHG5	1	6556607	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		6556607	242694014	1	13601										
PRDM2	7799	genome.wustl.edu	37	chr1	14106831	14106831	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccagtccagtgggaatctgtCttagatctcagtgtgcataa	10	9	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:14106831C>G	ENST00000235372.7	+	8	3397	c.2541C>G	c.(2539-2541)gtC>gtG	p.V847V	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.V646V|PRDM2_ENST00000311066.5_Silent_p.V847V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V646V|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	847					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGGAATCTGTCTTAGATCTCA	0.458																																																	0													92	88	90					1																	14106831		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2541C>G	1.37:g.14106831C>G			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.V847	ENST00000235372.7	37	c.2541	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.458	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14106831	1	no_errors	ENST00000235372	ensembl	human	known	70_37	silent	SNP	0.023	G	G	14106831	C	G	14106831	2	3	96	1	0	0	0	0	0	0	0	1	12485	900	32	1		1	PRDM2	1	14106831	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	7550224	14106831	235143790	2	13602										
C1orf135	79000	genome.wustl.edu	37	chr1	26161951	26161951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctgatagttcttcttagactCatgaagccattcccatttcc	5	12	3	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:26161951C>T	ENST00000374298.3	-	3	661	c.607G>A	c.(607-609)Gag>Aag	p.E203K	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.E203K	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	203	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											TTCTTAGACTCATGAAGCCAT	0.453																																																	0													181	185	184					1																	26161951		2203	4300	6503	SO:0001583	missense	79000				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.607G>A	1.37:g.26161951C>T	ENSP00000363416:p.Glu203Lys		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.E203K	ENST00000374298.3	37	c.607	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384915	0.04966	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.42900	0.96;0.96	5.25	1.34	0.21922	.	0.694765	0.12698	N	0.446596	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.27606	-1.0069	10	0.09590	T	0.72	-26.469	7.003	0.24820	0.0:0.6395:0.0:0.3605	.	203	Q9H7T9	CA135_HUMAN	K	203	ENSP00000443647:E203K;ENSP00000363416:E203K	ENSP00000363416:E203K	E	-	1	0	C1orf135	26034538	0.013000	0.17824	0.301000	0.25044	0.266000	0.26442	-0.002000	0.12924	0.458000	0.26988	-0.224000	0.12420	GAG	AUNIP	-	NULL		0.453	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	C	NM_024037		26161951	-1	no_errors	ENST00000538789	ensembl	human	known	70_37	missense	SNP	0.101	T	T	26161951	C	T	26161951	3	4	96	1	0	0	0	0	1	0	0	0	2004	835	29	1	470	1	C1orf135	1	26161951	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	12055120	26161951	223088670	3	13603										
EVI5	7813	genome.wustl.edu	37	chr1	92979238	92979238	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cagtggttgaatacgactctCttcttctcgggggccgctcc	11	13	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:92979238C>G	ENST00000370331.1	-	18	2417	c.2408G>C	c.(2407-2409)aGa>aCa	p.R803T	EVI5_ENST00000540033.1_Missense_Mutation_p.R803T|EVI5_ENST00000543509.1_Missense_Mutation_p.R814T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	803	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATACGACTCTCTTCTTCTCGG	0.463																																																	0													153	154	154					1																	92979238		2203	4300	6503	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2408G>C	1.37:g.92979238C>G	ENSP00000359356:p.Arg803Thr		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R814T	ENST00000370331.1	37	c.2441	CCDS30774.1	1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957774	0.53400	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05258	3.47;3.47;3.47	5.72	1.46	0.22682	.	0.360083	0.26010	N	0.026888	T	0.01222	0.0040	N	0.22421	0.69	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.17098	0.017;0.007	T	0.46148	-0.9212	10	0.48119	T	0.1	-2.2098	4.3278	0.11048	0.1797:0.4792:0.0:0.3411	.	814;803	F5H4R0;O60447	.;EVI5_HUMAN	T	803;803;814	ENSP00000359356:R803T;ENSP00000440826:R803T;ENSP00000445019:R814T	ENSP00000359356:R803T	R	-	2	0	EVI5	92751826	0.003000	0.15002	0.016000	0.15963	0.835000	0.47333	0.021000	0.13489	0.258000	0.21686	-0.143000	0.13931	AGA	EVI5	-	NULL		0.463	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	C	NM_005665		92979238	-1	no_errors	ENST00000543509	ensembl	human	known	70_37	missense	SNP	0.032	G	G	92979238	C	G	92979238	3	3	96	1	0	0	0	0	1	0	0	0	5301	913	32	1	28	1	EVI5	1	92979238	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	66817287	92979238	156271383	4	13604										
ADORA3	140	genome.wustl.edu	37	chr1	112042770	112042770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ggtacctcaccattaaagtaGatgatgcagttgatgataga	10	6	1	5			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:112042770G>C	ENST00000241356.4	-	2	1164	c.759C>G	c.(757-759)atC>atG	p.I253M	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	253					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CATTAAAGTAGATGATGCAGT	0.438																																																	0													104	98	100					1																	112042770		2203	4300	6503	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.759C>G	1.37:g.112042770G>C	ENSP00000241356:p.Ile253Met		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.I253M	ENST00000241356.4	37	c.759	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	G	4.515	0.095486	0.08681	.	.	ENSG00000121933	ENST00000241356	T	0.71698	-0.59	5.01	-0.681	0.11342	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28599	0.0708	N	0.13235	0.315	0.09310	N	1	B	0.16166	0.016	B	0.23275	0.045	T	0.28073	-1.0055	9	0.42905	T	0.14	.	5.8523	0.18699	0.0837:0.5214:0.2594:0.1355	.	253	P33765	AA3R_HUMAN	M	253	ENSP00000241356:I253M	ENSP00000241356:I253M	I	-	3	3	ADORA3	111844293	0.000000	0.05858	0.065000	0.19835	0.052000	0.14988	-0.445000	0.06845	0.211000	0.20683	0.650000	0.86243	ATC	ADORA3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt		0.438	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1	G	NM_000677, NM_020683		112042770	-1	no_errors	ENST00000241356	ensembl	human	known	70_37	missense	SNP	0.059	C	C	112042770	G	C	112042770	3	2	96	1	0	0	0	0	1	0	0	0	329	932	33	1	915	1	ADORA3	1	112042770	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	19063532	112042770	137207851	5	13605										
NBPF10	100132406	genome.wustl.edu	37	chr1	145301734	145301734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tctcagaatatgaagagtgcAaagacctcataaaatttatg	7	6	2	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:145301734A>G	ENST00000369339.3	+	4	443	c.190A>G	c.(190-192)Aaa>Gaa	p.K64E	NBPF10_ENST00000369338.1_Missense_Mutation_p.K64E|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.K335E			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	335						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGAAGAGTGCAAAGACCTCAT	0.517																																																	0																																										SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.190A>G	1.37:g.145301734A>G	ENSP00000358345:p.Lys64Glu		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.K335E	ENST00000369339.3	37	c.1003		1	.	.	.	.	.	.	.	.	.	.	.	0.802	-0.755213	0.03019	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09255	3.0;3.91	0.616	-1.23	0.09465	.	.	.	.	.	T	0.07593	0.0191	L	0.50333	1.59	0.09310	N	1	B;P	0.49696	0.002;0.927	B;P	0.56563	0.003;0.801	T	0.15723	-1.0427	8	0.59425	D	0.04	.	.	.	.	.	64;64	A8MQ30;Q86T75-2	.;.	E	260;64;64;335	ENSP00000358344:K64E;ENSP00000345684:K335E	ENSP00000345684:K335E	K	+	1	0	NBPF10	144013091	0.007000	0.16637	0.000000	0.03702	0.061000	0.15899	-0.085000	0.11250	-0.362000	0.08113	-1.796000	0.00623	AAA	NBPF10	-	NULL		0.517	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	A	NM_001039703		145301734	1	no_errors	ENST00000342960	ensembl	human	known	70_37	missense	SNP	0.001	G	G	145301734	A	G	145301734	3	3	96	1	0	0	0	0	1	0	0	0	10216	131	5	5	1029	5	NBPF10	1	145301734	Missense_Mutation	SNP	A	TCGA-EK-A2IP-01A-11D-A17W-09	33258964	145301734	103948887	6	13606										
POGZ	23126	genome.wustl.edu	37	chr1	151380630	151380630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aggtgctatagcgacacagaGagcagtgtacgtaagtaggg	15	6	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:151380630G>C	ENST00000271715.2	-	15	2635	c.2321C>G	c.(2320-2322)tCt>tGt	p.S774C	POGZ_ENST00000392723.1_Missense_Mutation_p.S721C|POGZ_ENST00000368863.2_Missense_Mutation_p.S679C|POGZ_ENST00000409503.1_Missense_Mutation_p.S765C|POGZ_ENST00000361398.3_Missense_Mutation_p.S721C|POGZ_ENST00000491586.1_Missense_Mutation_p.S730C|POGZ_ENST00000540984.1_Missense_Mutation_p.S136C|POGZ_ENST00000531094.1_Missense_Mutation_p.S712C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	774					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGACACAGAGAGCAGTGTAC	0.478																																																	0													152	134	140					1																	151380630		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2321C>G	1.37:g.151380630G>C	ENSP00000271715:p.Ser774Cys		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.S774C	ENST00000271715.2	37	c.2321	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071470	0.76301	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.36340	5.6;5.63;5.6;5.56;5.61;5.6;1.68;5.09;1.26	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000004	T	0.49167	0.1541	L	0.52011	1.625	0.53005	D	0.999962	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.993;0.962;0.997;0.994;0.992;0.993	T	0.50285	-0.8846	10	0.87932	D	0	-17.1403	17.971	0.89112	0.0:0.0:1.0:0.0	.	712;765;679;730;721;774	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	C	721;774;721;679;765;712;136;730;174	ENSP00000376484:S721C;ENSP00000271715:S774C;ENSP00000354467:S721C;ENSP00000357856:S679C;ENSP00000386836:S765C;ENSP00000431259:S712C;ENSP00000443547:S136C;ENSP00000418408:S730C;ENSP00000432295:S174C	ENSP00000271715:S774C	S	-	2	0	POGZ	149647254	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.127000	0.77210	2.592000	0.87571	0.655000	0.94253	TCT	POGZ	-	smart_Znf_C2H2-like		0.478	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	G	NM_207171		151380630	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151380630	G	C	151380630	3	2	96	1	0	0	0	0	1	0	0	0	12210	942	33	1	1931	1	POGZ	1	151380630	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	6078896	151380630	97869991	7	13607										
ETV3L	440695	genome.wustl.edu	37	chr1	157062807	157062807	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agacaggtccagttggagggCagagggggcgggaggggagg	24	5	0	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:157062807C>A	ENST00000454449.2	-	5	1004	c.720G>T	c.(718-720)ctG>ctT	p.L240L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	240	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGTTGGAGGGCAGAGGGGGCG	0.667																																																	0													11	14	13					1																	157062807		2192	4288	6480	SO:0001819	synonymous_variant	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.720G>T	1.37:g.157062807C>A				Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L240	ENST00000454449.2	37	c.720	CCDS30893.1	1																																																																																			ETV3L	-	NULL		0.667	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	HGNC	protein_coding	OTTHUMT00000099024.2	C	NM_001004341		157062807	-1	no_errors	ENST00000454449	ensembl	human	known	70_37	silent	SNP	0.001	A	A	157062807	C	A	157062807	2	1	96	1	0	0	0	0	0	0	0	1	5292	697	25	4		4	ETV3L	1	157062807	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	5682177	157062807	92187814	8	13608										
GPR25	2848	genome.wustl.edu	37	chr1	200843211	200843211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cgacagttccgtgttccgttGccgggcccaggccgcgaaca	13	15	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:200843211G>A	ENST00000304244.2	+	1	1129	c.1046G>A	c.(1045-1047)tGc>tAc	p.C349Y		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	349					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GTGTTCCGTTGCCGGGCCCAG	0.746																																																	0													10	9	10					1																	200843211		2158	4226	6384	SO:0001583	missense	2848			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.1046G>A	1.37:g.200843211G>A	ENSP00000301917:p.Cys349Tyr		A0AVJ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.C349Y	ENST00000304244.2	37	c.1046	CCDS1405.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645723	0.29246	.	.	ENSG00000170128	ENST00000304244	T	0.67345	-0.26	3.82	2.9	0.33743	.	1.113020	0.07236	U	0.863382	T	0.45377	0.1339	N	0.08118	0	0.09310	N	0.999997	B	0.28900	0.227	B	0.23018	0.043	T	0.36866	-0.9730	10	0.52906	T	0.07	.	7.4928	0.27471	0.1255:0.0:0.8745:0.0	.	349	O00155	GPR25_HUMAN	Y	349	ENSP00000301917:C349Y	ENSP00000301917:C349Y	C	+	2	0	GPR25	199109834	.	.	0.183000	0.23137	0.118000	0.20060	.	.	0.715000	0.32103	0.462000	0.41574	TGC	GPR25	-	NULL		0.746	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR25	HGNC	protein_coding	OTTHUMT00000087056.1	G	NM_005298		200843211	1	no_errors	ENST00000304244	ensembl	human	known	70_37	missense	SNP	0.319	A	A	200843211	G	A	200843211	3	1	96	1	0	0	0	0	1	0	0	0	6702	1319	46	4	1048	4	GPR25	1	200843211	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	43780404	200843211	48407410	9	13609										
DUSP10	11221	genome.wustl.edu	37	chr1	221912616	221912616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttgctgcatttggtcatcttCtttgccaagtcattggggta	10	8	4	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:221912616C>G	ENST00000366899.3	-	2	709	c.471G>C	c.(469-471)aaG>aaC	p.K157N	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	157					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TGGTCATCTTCTTTGCCAAGT	0.532																																																	0													103	95	98					1																	221912616		2203	4300	6503	SO:0001583	missense	11221			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.471G>C	1.37:g.221912616C>G	ENSP00000355866:p.Lys157Asn		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.K157N	ENST00000366899.3	37	c.471	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473332	0.43942	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.42900	0.96	5.76	5.76	0.90799	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	N	0.24115	0.695	0.80722	D	1	B	0.16166	0.016	B	0.12837	0.008	T	0.06991	-1.0796	10	0.56958	D	0.05	.	12.467	0.55764	0.0:0.9233:0.0:0.0767	.	157	Q9Y6W6	DUS10_HUMAN	N	157;102	ENSP00000355866:K157N	ENSP00000355866:K157N	K	-	3	2	DUSP10	219979239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.550000	0.36223	2.730000	0.93505	0.591000	0.81541	AAG	DUSP10	-	superfamily_Rhodanese-like_dom		0.532	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	C	NM_007207		221912616	-1	no_errors	ENST00000366899	ensembl	human	known	70_37	missense	SNP	1.000	G	G	221912616	C	G	221912616	3	3	96	1	0	0	0	0	1	0	0	0	4820	912	32	1	989	1	DUSP10	1	221912616	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	21069405	221912616	27338005	10	13610										
KIDINS220	57498	genome.wustl.edu	37	chr2	8874824	8874824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cagtctccaaaattcatattCatctctttcttcagctcatc	2	13	7	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:8874824C>T	ENST00000256707.3	-	28	3958	c.3777G>A	c.(3775-3777)atG>atA	p.M1259I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1160I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1240I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1240I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1259					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTCATATTCATCTCTTTCT	0.308																																																	0													101	95	97					2																	8874824		1853	4090	5943	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3777G>A	2.37:g.8874824C>T	ENSP00000256707:p.Met1259Ile		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1259I	ENST00000256707.3	37	c.3777	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.270515	0.95429	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.96	5.96	0.96718	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.74258	2.255	0.80722	D	1	P;P;D;D;D	0.57257	0.936;0.613;0.979;0.964;0.976	P;B;D;D;D	0.75484	0.885;0.358;0.986;0.968;0.919	T	0.68062	-0.5508	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	1203;1203;1160;1259;113	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0;B4DG84	.;.;.;KDIS_HUMAN;.	I	949;886;1259;1240;1160;1240;1203	ENSP00000420364:M949I;ENSP00000256707:M1259I;ENSP00000411849:M1240I;ENSP00000414923:M1160I;ENSP00000418974:M1240I;ENSP00000419964:M1203I	ENSP00000256707:M1259I	M	-	3	0	KIDINS220	8792275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.433000	0.80362	2.832000	0.97577	0.655000	0.94253	ATG	KIDINS220	-	superfamily_SAM/pointed		0.308	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8874824	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8874824	C	T	8874824	3	4	96	1	0	0	0	0	1	0	0	0	8291	826	29	1	1550	1	KIDINS220	2	8874824	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		8874824	234324549	11	13611										
NBAS	51594	genome.wustl.edu	37	chr2	15372596	15372596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	acaacaccttccaggaccttCagtgggtcccttggcccacc	8	17	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:15372596C>T	ENST00000281513.5	-	47	6211	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	NBAS_ENST00000441750.1_Silent_p.L1942L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2062					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCAGGACCTTCAGTGGGTCCC	0.478																																																	0													99	77	84					2																	15372596		2203	4300	6503	SO:0001819	synonymous_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6186G>A	2.37:g.15372596C>T			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.L2062	ENST00000281513.5	37	c.6186	CCDS1685.1	2																																																																																			NBAS	-	NULL		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15372596	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	silent	SNP	0.665	T	T	15372596	C	T	15372596	2	4	96	1	0	0	0	0	0	0	0	1	10209	813	29	1		1	NBAS	2	15372596	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	6497772	15372596	227826777	12	13612										
LBH	81606	genome.wustl.edu	37	chr2	30457343	30457343	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cccatggaggagatcggcctCagcccccgcaaggatggcct	13	15	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:30457343C>T	ENST00000395323.3	+	2	307	c.99C>T	c.(97-99)ctC>ctT	p.L33L	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Silent_p.L33L|LBH_ENST00000406087.1_Silent_p.L33L|LBH_ENST00000407930.2_Silent_p.L16L|LBH_ENST00000401506.1_Silent_p.L39L	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	33					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGATCGGCCTCAGCCCCCGCA	0.557																																																	0													120	100	107					2																	30457343		2203	4300	6503	SO:0001819	synonymous_variant	81606			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.99C>T	2.37:g.30457343C>T			B2RBC2|Q9H0Q1	Silent	SNP	pirsf_LBH,prints_LBH	p.L33	ENST00000395323.3	37	c.99	CCDS33173.1	2																																																																																			LBH	-	pirsf_LBH,prints_LBH		0.557	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	HGNC	protein_coding	OTTHUMT00000325091.1	C	NM_030915		30457343	1	no_errors	ENST00000395323	ensembl	human	known	70_37	silent	SNP	0.991	T	T	30457343	C	T	30457343	2	4	96	1	0	0	0	0	0	0	0	1	8670	813	29	1		1	LBH	2	30457343	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	15084747	30457343	212742030	13	13613										
C2orf86	51057	genome.wustl.edu	37	chr2	63486499	63486499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agctctttttcttgccacttCagctagtgccaattcacctt	5	13	4	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:63486499C>T	ENST00000272321.7	-	14	2385	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	WDPCP_ENST00000409562.3_Intron|WDPCP_ENST00000409199.1_Missense_Mutation_p.E428K|WDPCP_ENST00000409120.1_Missense_Mutation_p.E428K|WDPCP_ENST00000398544.3_Missense_Mutation_p.E461K	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	620					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTTGCCACTTCAGCTAGTGCC	0.338																																																	0													140	134	136					2																	63486499		1828	4082	5910	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1858G>A	2.37:g.63486499C>T	ENSP00000272321:p.Glu620Lys		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.E620K	ENST00000272321.7	37	c.1858	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753269	0.31046	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.42	5.42	0.78866	.	0.143817	0.45606	D	0.000360	T	0.26991	0.0661	N	0.12182	0.205	0.80722	D	1	B;P	0.35155	0.064;0.487	B;B	0.39503	0.021;0.301	T	0.09574	-1.0668	10	0.13108	T	0.6	-13.0249	12.5442	0.56190	0.0:0.9237:0.0:0.0763	.	620;461	O95876;O95876-3	FRITZ_HUMAN;.	K	620;428;428;461	ENSP00000272321:E620K;ENSP00000386592:E428K;ENSP00000386769:E428K;ENSP00000381552:E461K	ENSP00000272321:E620K	E	-	1	0	WDPCP	63340003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.364000	0.59479	2.545000	0.85829	0.591000	0.81541	GAA	WDPCP	-	pfam_DUF3312		0.338	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	C	NM_015910		63486499	-1	no_errors	ENST00000272321	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63486499	C	T	63486499	3	4	96	1	0	0	0	0	1	0	0	0	2206	835	29	1	402	1	C2orf86	2	63486499	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	33029156	63486499	179712874	14	13614										
LRP1B	53353	genome.wustl.edu	37	chr2	141202189	141202189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctctccatcacagatgaaagCtggtagagcacagagtccag	10	11	2	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:141202189C>A	ENST00000389484.3	-	64	11088	c.10117G>T	c.(10117-10119)Gct>Tct	p.A3373S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3373	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGAAAGCTGGTAGAGCA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													102	95	97					2																	141202189		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10117G>T	2.37:g.141202189C>A	ENSP00000374135:p.Ala3373Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A3373S	ENST00000389484.3	37	c.10117	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930917	0.73327	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94931	-3.56	5.85	5.85	0.93711	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.070956	0.56097	D	0.000022	D	0.88485	0.6449	N	0.01202	-0.96	0.41301	D	0.987049	P	0.50819	0.939	P	0.53809	0.735	D	0.86281	0.1667	10	0.06494	T	0.89	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3373	Q9NZR2	LRP1B_HUMAN	S	3373;3311	ENSP00000374135:A3373S	ENSP00000374135:A3373S	A	-	1	0	LRP1B	140918659	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	3.920000	0.56446	2.767000	0.95098	0.563000	0.77884	GCT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141202189	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141202189	C	A	141202189	3	1	96	1	0	0	0	0	1	0	0	0	8978	797	28	4	3794	4	LRP1B	2	141202189	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	77715690	141202189	101997184	15	13615										
NEB	4703	genome.wustl.edu	37	chr2	152580836	152580836	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aggggcatcaggaggaagcaGgtacttatccttggtgtctt	14	7	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:152580836G>C	ENST00000172853.10	-	8	697	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	NEB_ENST00000604864.1_Missense_Mutation_p.L184V|NEB_ENST00000603639.1_Missense_Mutation_p.L184V|NEB_ENST00000397345.3_Missense_Mutation_p.L184V|NEB_ENST00000409198.1_Missense_Mutation_p.L184V|NEB_ENST00000427231.2_Missense_Mutation_p.L184V			P20929	NEBU_HUMAN	nebulin	184					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGGAAGCAGGTACTTATCC	0.502																																																	0													146	153	151					2																	152580836		1995	4166	6161	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.550C>G	2.37:g.152580836G>C	ENSP00000172853:p.Leu184Val		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L184V	ENST00000172853.10	37	c.550		2	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380545	0.24944	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.05996	3.36;3.4;3.37;3.36	6.02	5.12	0.69794	.	0.164148	0.41605	D	0.000843	T	0.14743	0.0356	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.24870	-1.0148	10	0.10636	T	0.68	.	8.8734	0.35330	0.103:0.1453:0.7517:0.0	.	184	P20929	NEBU_HUMAN	V	184	ENSP00000386259:L184V;ENSP00000380505:L184V;ENSP00000416578:L184V;ENSP00000172853:L184V	ENSP00000172853:L184V	L	-	1	2	NEB	152289082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.451000	0.52964	1.513000	0.48852	0.650000	0.86243	CTG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.502	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152580836	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152580836	G	C	152580836	3	2	96	1	0	0	0	0	1	0	0	0	10326	991	35	4	25836	4	NEB	2	152580836	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	11378647	152580836	90618537	16	13616										
TTN	7273	genome.wustl.edu	37	chr2	179479455	179479455	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtgagaccagcaaggagcttCacatcgaggaagatttctgg	13	8	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:179479455C>T	ENST00000591111.1	-	211	44087	c.43863G>A	c.(43861-43863)gtG>gtA	p.V14621V	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V7389V|TTN_ENST00000342992.6_Silent_p.V13694V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.V16262V|TTN_ENST00000460472.2_Silent_p.V7197V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.V7322V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14621	Ig-like 96.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGGAGCTTCACATCGAGGA	0.423																																																	0													65	56	59					2																	179479455		1833	4094	5927	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43863G>A	2.37:g.179479455C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13694	ENST00000591111.1	37	c.41082		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179479455	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179479455	C	T	179479455	2	4	96	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179479455	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	26898619	179479455	63719918	17	13617										
MAP2	4133	genome.wustl.edu	37	chr2	210561040	210561040	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	accaccattgacgactccatCatggacgctgacagcctctg	8	15	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:210561040C>G	ENST00000360351.4	+	7	4652	c.4146C>G	c.(4144-4146)atC>atG	p.I1382M	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1378M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1382					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ACGACTCCATCATGGACGCTG	0.403																																					Pancreas(27;423 979 28787 29963)												0													58	65	62					2																	210561040		2202	4300	6502	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4146C>G	2.37:g.210561040C>G	ENSP00000353508:p.Ile1382Met		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.I1382M	ENST00000360351.4	37	c.4146	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452322	0.43531	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25414	1.8;1.8	5.82	4.02	0.46733	MAP2/Tau projection (1);	0.098042	0.44902	D	0.000410	T	0.40473	0.1118	L	0.59436	1.845	0.42971	D	0.99443	P;P	0.52577	0.879;0.954	P;P	0.62298	0.715;0.9	T	0.21449	-1.0245	10	0.72032	D	0.01	-5.7123	7.7909	0.29119	0.0:0.7344:0.133:0.1326	.	1378;1382	P11137-3;P11137	.;MAP2_HUMAN	M	1382;1378	ENSP00000353508:I1382M;ENSP00000392164:I1378M	ENSP00000353508:I1382M	I	+	3	3	MAP2	210269285	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.229000	0.32600	0.797000	0.33971	0.650000	0.86243	ATC	MAP2	-	pfam_MAP2_projctn		0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	C	NM_001039538		210561040	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	G	G	210561040	C	G	210561040	3	3	96	1	0	0	0	0	1	0	0	0	9258	816	29	1	4160	1	MAP2	2	210561040	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	31081585	210561040	32638333	18	13618										
CCDC108	255101	genome.wustl.edu	37	chr2	219868903	219868903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttcttcctcctcttcctcctCcaactcttcttcttcctctt	0	19	6	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:219868903C>T	ENST00000341552.5	-	33	5409	c.5326G>A	c.(5326-5328)Gag>Aag	p.E1776K	MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1776K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1776K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1776	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcttcctcctccaactcttct	0.537																																																	0													93	89	90					2																	219868903		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5326G>A	2.37:g.219868903C>T	ENSP00000340776:p.Glu1776Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1776K	ENST00000341552.5	37	c.5326	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517988	0.44763	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07444	3.19;3.19;3.19	4.67	3.79	0.43588	.	0.368522	0.19686	N	0.108394	T	0.06462	0.0166	L	0.40543	1.245	0.24630	N	0.993622	B	0.13594	0.008	B	0.13407	0.009	T	0.41197	-0.9522	10	0.11794	T	0.64	-6.6434	7.0885	0.25272	0.0:0.7959:0.0:0.2041	.	1776	Q6ZU64	CC108_HUMAN	K	1776	ENSP00000340776:E1776K;ENSP00000413377:E1776K;ENSP00000409117:E1776K	ENSP00000340776:E1776K	E	-	1	0	CCDC108	219577147	0.022000	0.18835	0.447000	0.26932	0.619000	0.37552	0.917000	0.28665	0.967000	0.38186	0.561000	0.74099	GAG	CCDC108	-	NULL		0.537	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868903	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.299	T	T	219868903	C	T	219868903	3	4	96	1	0	0	0	0	1	0	0	0	2748	864	30	1	463	1	CCDC108	2	219868903	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	9307863	219868903	23330470	19	13619			1	57		2	2	19	C		7.209808e-05
CCDC108	255101	genome.wustl.edu	37	chr2	219868921	219868921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctccaactcttcttcttcctCttcacccttctcctcctccc	0	22	6	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:219868921C>T	ENST00000341552.5	-	33	5391	c.5308G>A	c.(5308-5310)Gag>Aag	p.E1770K	MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1770K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1770K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1770	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcttcttcctcttcacccttc	0.557																																																	0													100	96	97					2																	219868921		2202	4300	6502	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5308G>A	2.37:g.219868921C>T	ENSP00000340776:p.Glu1770Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1770K	ENST00000341552.5	37	c.5308	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217601	0.39201	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06218	3.33;3.33;3.33	4.67	2.85	0.33270	.	0.000000	0.33813	N	0.004531	T	0.05410	0.0143	L	0.40543	1.245	0.23366	N	0.997824	B	0.13594	0.008	B	0.13407	0.009	T	0.31223	-0.9951	10	0.40728	T	0.16	-2.4229	5.6777	0.17757	0.0:0.6844:0.0:0.3156	.	1770	Q6ZU64	CC108_HUMAN	K	1770	ENSP00000340776:E1770K;ENSP00000413377:E1770K;ENSP00000409117:E1770K	ENSP00000340776:E1770K	E	-	1	0	CCDC108	219577165	0.005000	0.15991	0.353000	0.25747	0.380000	0.30137	0.860000	0.27871	0.967000	0.38186	0.561000	0.74099	GAG	CCDC108	-	NULL		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868921	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.331	T	T	219868921	C	T	219868921	3	4	96	1	0	0	0	0	1	0	0	0	2748	922	32	1	481	1	CCDC108	2	219868921	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	18	219868921	23330452	20	13620			1	57		2	2	19	C		7.209808e-05
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	16	14	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	G	NM_006037		240016733	-1	no_errors	ENST00000345617	ensembl	human	known	70_37	missense	SNP	0.191	T	T	240016733	G	T	240016733	3	4	96	1	0	0	0	0	1	0	0	0	7029	1049	37	3	1060	3	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	20147812	240016733	3182640	21	13621										
B4GALT4	8702	genome.wustl.edu	37	chr3	118931488	118931488	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agaacaactactcaacccatCtgttctccagactcgtgaca	5	14	3	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:118931488C>T	ENST00000483209.1	-	8	1584	c.943G>A	c.(943-945)Gat>Aat	p.D315N	B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000359213.3_Missense_Mutation_p.D315N|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.D315N			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	315					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CTCAACCCATCTGTTCTCCAG	0.368																																																	0													113	106	108					3																	118931488		2203	4300	6503	SO:0001583	missense	8702			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.943G>A	3.37:g.118931488C>T	ENSP00000420161:p.Asp315Asn		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.D315N	ENST00000483209.1	37	c.943	CCDS2986.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012388	0.93346	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.38560	1.13;1.13;1.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78863	-0.2036	10	0.87932	D	0	-23.0822	17.8886	0.88864	0.0:1.0:0.0:0.0	.	315	O60513	B4GT4_HUMAN	N	315	ENSP00000420161:D315N;ENSP00000352144:D315N;ENSP00000377360:D315N	ENSP00000352144:D315N	D	-	1	0	B4GALT4	120414178	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.519000	0.73768	2.793000	0.96121	0.655000	0.94253	GAT	B4GALT4	-	pfam_Galactosyl_T_2_met		0.368	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT4	HGNC	protein_coding	OTTHUMT00000354925.2	C	NM_003778		118931488	-1	no_errors	ENST00000359213	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118931488	C	T	118931488	3	4	96	1	0	0	0	0	1	0	0	0	1274	913	32	1	95	1	B4GALT4	3	118931488	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		118931488	79090942	22	13622										
MYLK	4638	genome.wustl.edu	37	chr3	123512627	123512627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gcatggagtcaactcttgagGgatccacactgagggaggtt	14	8	2	2	rs28497577	byFrequency	TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:123512627G>A	ENST00000475616.1	-	1	61	c.62C>T	c.(61-63)cCc>cTc	p.P21L	MYLK_ENST00000346322.5_Missense_Mutation_p.P21L|MYLK_ENST00000359169.1_Missense_Mutation_p.P21L|MYLK_ENST00000360304.3_Missense_Mutation_p.P21L|MYLK_ENST00000360772.3_Missense_Mutation_p.P21L			Q15746	MYLK_HUMAN	myosin light chain kinase	21			P -> H (in dbSNP:rs28497577).		actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AACTCTTGAGGGATCCACACT	0.542																																																	0													67	69	68					3																	123512627		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.62C>T	3.37:g.123512627G>A	ENSP00000418335:p.Pro21Leu		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P21L	ENST00000475616.1	37	c.62	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269151	0.23221	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.67698	-0.28;-0.23;-0.28;-0.26;-0.23	5.91	0.146	0.14833	.	.	.	.	.	T	0.60983	0.2311	N	0.24115	0.695	0.80722	P	0.0	P;P;B;B;B;B;P	0.45827	0.867;0.867;0.392;0.13;0.328;0.13;0.79	P;P;B;B;B;B;B	0.49332	0.607;0.607;0.149;0.103;0.264;0.103;0.403	T	0.60772	-0.7197	8	0.16896	T	0.51	.	20.3305	0.98715	0.0:0.0:0.8627:0.1373	.	21;21;21;21;21;21;21	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	L	21	ENSP00000354004:P21L;ENSP00000353452:P21L;ENSP00000352088:P21L;ENSP00000320622:P21L;ENSP00000418335:P21L	ENSP00000320622:P21L	P	-	2	0	MYLK	124995317	0.886000	0.30341	0.528000	0.27938	0.337000	0.28794	-0.203000	0.09438	0.013000	0.14918	0.655000	0.94253	CCC	MYLK	-	NULL		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	G	NM_053025		123512627	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	missense	SNP	0.011	A	A	123512627	G	A	123512627	3	1	96	1	0	0	0	0	1	0	0	0	10079	1232	43	4	5806	4	MYLK	3	123512627	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	4581139	123512627	74509803	23	13623										
THPO	7066	genome.wustl.edu	37	chr3	184090787	184090787	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtcctgtttgggagctcgttCagtgtgaggactagagaggt	16	6	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:184090787C>G	ENST00000204615.7	-	6	790	c.576G>C	c.(574-576)ctG>ctC	p.L192L	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Silent_p.L188L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	192					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGCTCGTTCAGTGTGAGGA	0.572																																																	0													81	84	83					3																	184090787		2203	4300	6503	SO:0001819	synonymous_variant	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.576G>C	3.37:g.184090787C>G			A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.L192	ENST00000204615.7	37	c.576	CCDS3265.1	3																																																																																			THPO	-	NULL		0.572	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	C	NM_000460		184090787	-1	no_errors	ENST00000204615	ensembl	human	known	70_37	silent	SNP	0.452	G	G	184090787	C	G	184090787	2	3	96	1	0	0	0	0	0	0	0	1	15902	835	29	1		1	THPO	3	184090787	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	60578160	184090787	13931643	24	13624										
ST6GAL1	6480	genome.wustl.edu	37	chr3	186760543	186760543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gctgctgcgtcctggtctttCttctgtttgcagtcatctgt	10	11	5	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:186760543C>T	ENST00000169298.3	+	4	726	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.L18F	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	18					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCTGGTCTTTCTTCTGTTTGC	0.408																																																	0													161	158	159					3																	186760543		2203	4300	6503	SO:0001583	missense	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.52C>T	3.37:g.186760543C>T	ENSP00000169298:p.Leu18Phe		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L18F	ENST00000169298.3	37	c.52	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462421	0.26248	.	.	ENSG00000073849	ENST00000169298;ENST00000458216;ENST00000430309;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000440338;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	T;T	0.28895	1.59;1.59	5.44	3.3	0.37823	.	0.378164	0.28077	N	0.016688	T	0.30230	0.0758	M	0.72894	2.215	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.14282	-1.0478	10	0.72032	D	0.01	-30.0123	6.1191	0.20144	0.0:0.6887:0.1909:0.1204	.	18	P15907	SIAT1_HUMAN	F	18	ENSP00000169298:L18F;ENSP00000389337:L18F	ENSP00000169298:L18F	L	+	1	0	ST6GAL1	188243237	0.541000	0.26417	0.999000	0.59377	0.516000	0.34256	0.129000	0.15830	0.678000	0.31325	0.561000	0.74099	CTT	ST6GAL1	-	pirsf_Sialyl_trans		0.408	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	C	NM_173216		186760543	1	no_errors	ENST00000169298	ensembl	human	known	70_37	missense	SNP	1.000	T	T	186760543	C	T	186760543	3	4	96	1	0	0	0	0	1	0	0	0	15251	913	32	1	54	1	ST6GAL1	3	186760543	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	2669756	186760543	11261887	25	13625										
CPLX1	10815	genome.wustl.edu	37	chr4	780459	780459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ggcggcctgggcctcggcctCgcgctcctccttcttcttga	12	17	2	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:780459C>T	ENST00000304062.6	-	4	466	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	79					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756																																																	0													26	32	30					4																	780459		2162	4273	6435	SO:0001583	missense	10815			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.235G>A	4.37:g.780459C>T	ENSP00000305613:p.Glu79Lys		A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	pfam_Synaphin	p.E79K	ENST00000304062.6	37	c.235	CCDS46995.1	4	.	.	.	.	.	.	.	.	.	.	c	29.9	5.042366	0.93685	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	T	0.75953	0.3920	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.61080	0.989;0.989	D;D	0.71656	0.974;0.974	T	0.75596	-0.3263	8	0.33141	T	0.24	.	12.4885	0.55886	0.0:1.0:0.0:0.0	.	58;79	D6RI11;O14810	.;CPLX1_HUMAN	K	79;58;64;162	.	ENSP00000305613:E79K	E	-	1	0	CPLX1	770459	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.518000	0.67068	1.773000	0.52216	0.506000	0.49869	GAG	CPLX1	-	pfam_Synaphin		0.756	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX1	HGNC	protein_coding	OTTHUMT00000358830.1	C			780459	-1	no_errors	ENST00000304062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	780459	C	T	780459	3	4	96	1	0	0	0	0	1	0	0	0	3809	893	31	1	173	1	CPLX1	4	780459	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		780459	190373817	26	13626										
LAP3	51056	genome.wustl.edu	37	chr4	17585203	17585203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gagggagcggtgcttggtctCtatgaatacgatgacctaaa	13	7	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:17585203C>T	ENST00000226299.4	+	5	751	c.477C>T	c.(475-477)ctC>ctT	p.L159L	LAP3_ENST00000606142.1_Silent_p.L128L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	159					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGCTTGGTCTCTATGAATACG	0.547																																																	0													103	106	105					4																	17585203		2203	4300	6503	SO:0001819	synonymous_variant	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.477C>T	4.37:g.17585203C>T			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.L159	ENST00000226299.4	37	c.477	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_N		0.547	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	C			17585203	1	no_errors	ENST00000226299	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17585203	C	T	17585203	2	4	96	1	0	0	0	0	0	0	0	1	8643	900	32	1		1	LAP3	4	17585203	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	16804744	17585203	173569073	27	13627										
LGI2	55203	genome.wustl.edu	37	chr4	25014039	25014039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttctccatgctgggctgcgcGatggccacgtacacatcgtt	11	13	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:25014039G>A	ENST00000382114.4	-	7	923	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	246						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGGGCTGCGCGATGGCCACGT	0.478																																																	0													153	127	136					4																	25014039		2203	4300	6503	SO:0001819	synonymous_variant	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.738C>T	4.37:g.25014039G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.I246	ENST00000382114.4	37	c.738	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP,pfscan_EAR		0.478	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	G			25014039	-1	no_errors	ENST00000382114	ensembl	human	known	70_37	silent	SNP	0.999	A	A	25014039	G	A	25014039	2	1	96	1	0	0	0	0	0	0	0	1	8772	1048	37	1		1	LGI2	4	25014039	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	7428836	25014039	166140237	28	13628										
CNGA1	1259	genome.wustl.edu	37	chr4	47938939	47938939	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccatcatctgccaccacagcGagtttgccttccttgataat	6	14	2	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:47938939G>A	ENST00000514170.1	-	11	1891	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	CNGA1_ENST00000420489.2_Silent_p.L524L|CNGA1_ENST00000402813.3_Silent_p.L593L|CNGA1_ENST00000358519.4_Silent_p.L524L|CNGA1_ENST00000544810.1_Silent_p.L524L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	524					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCACCACAGCGAGTTTGCCTT	0.453																																																	0													111	112	112					4																	47938939		2195	4299	6494	SO:0001819	synonymous_variant	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1572C>T	4.37:g.47938939G>A			A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L593	ENST00000514170.1	37	c.1779	CCDS43226.1	4																																																																																			CNGA1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.453	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	G	NM_000087		47938939	-1	no_errors	ENST00000402813	ensembl	human	known	70_37	silent	SNP	0.052	A	A	47938939	G	A	47938939	2	1	96	1	0	0	0	0	0	0	0	1	3601	1045	37	1		1	CNGA1	4	47938939	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	22924900	47938939	143215337	29	13629										
PRKG2	5593	genome.wustl.edu	37	chr4	82056354	82056354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agaattaagttttctggtttCaagtctctgtagataatacc	7	6	3	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:82056354C>T	ENST00000395578.1	-	14	1847	c.1731G>A	c.(1729-1731)ttG>ttA	p.L577L	PRKG2_ENST00000418486.2_Silent_p.L548L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Silent_p.L157L|PRKG2_ENST00000264399.1_Silent_p.L577L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTGGTTTCAAGTCTCTGT	0.408																																																	0													132	129	130					4																	82056354		2203	4300	6503	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1731G>A	4.37:g.82056354C>T			B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L577	ENST00000395578.1	37	c.1731	CCDS3589.1	4																																																																																			PRKG2	-	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,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom		0.408	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82056354	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	silent	SNP	0.998	T	T	82056354	C	T	82056354	2	4	96	1	0	0	0	0	0	0	0	1	12550	825	29	1		1	PRKG2	4	82056354	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	34117415	82056354	109097922	30	13630										
PDE5A	8654	genome.wustl.edu	37	chr4	120419875	120419875	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tagcaaagggaaacagtcctCtgacacgtgggtcagggcct	13	10	2	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:120419875C>G	ENST00000354960.3	-	21	2828	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.E795Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.E785Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	837	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E837K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502																																																	1	Substitution - Missense(1)	lung(1)											93	92	92					4																	120419875		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2509G>C	4.37:g.120419875C>G	ENSP00000347046:p.Glu837Gln		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E837Q	ENST00000354960.3	37	c.2509	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291126	0.59976	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.82803	-1.65;-1.65;-1.65	5.31	4.47	0.54385	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.150726	0.64402	D	0.000016	D	0.84460	0.5477	L	0.41824	1.3	0.58432	D	0.999998	P;D	0.65815	0.764;0.995	P;P	0.57620	0.68;0.824	D	0.84725	0.0742	10	0.49607	T	0.09	.	13.9636	0.64196	0.0:0.9268:0.0:0.0732	.	837;795	O76074;O76074-2	PDE5A_HUMAN;.	Q	837;785;795	ENSP00000347046:E837Q;ENSP00000377957:E785Q;ENSP00000264805:E795Q	ENSP00000264805:E795Q	E	-	1	0	PDE5A	120639323	0.842000	0.29525	0.828000	0.32881	0.819000	0.46315	1.805000	0.38883	1.234000	0.43709	0.467000	0.42956	GAG	PDE5A	-	pfam_PDEase_catalytic_dom		0.502	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	C	NM_001083		120419875	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	0.997	G	G	120419875	C	G	120419875	3	3	96	1	0	0	0	0	1	0	0	0	11668	922	32	1	122	1	PDE5A	4	120419875	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	38363521	120419875	70734401	31	13631										
PCDHA2	56146	genome.wustl.edu	37	chr5	140175000	140175000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aatcaaggctgcttgattctCggtttcctctagagggagca	11	9	3	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:140175000C>T	ENST00000526136.1	+	1	451	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R151W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R151W	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	151					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGATTCTCGGTTTCCTCT	0.458																																																	0													88	92	91					5																	140175000		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.451C>T	5.37:g.140175000C>T	ENSP00000431748:p.Arg151Trp		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R151W	ENST00000526136.1	37	c.451	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	13.76	2.331850	0.41297	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53857	0.6;0.6;0.6	3.81	-3.5	0.04710	Cadherin (2);Cadherin-like (1);	0.870483	0.09082	U	0.851236	T	0.72898	0.3518	H	0.94620	3.56	0.09310	N	1	P;P;P	0.48998	0.918;0.882;0.918	P;P;P	0.53102	0.45;0.718;0.45	T	0.73100	-0.4089	10	0.72032	D	0.01	.	15.1285	0.72500	0.5312:0.4688:0.0:0.0	.	151;151;151	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	151	ENSP00000430584:R151W;ENSP00000367372:R151W;ENSP00000431748:R151W	ENSP00000367372:R151W	R	+	1	2	PCDHA2	140155184	0.000000	0.05858	0.009000	0.14445	0.840000	0.47671	-0.358000	0.07641	-0.408000	0.07565	0.644000	0.83932	CGG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like		0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	C	NM_018905		140175000	1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.002	T	T	140175000	C	T	140175000	3	4	96	1	0	0	0	0	1	0	0	0	11548	875	31	1	453	1	PCDHA2	5	140175000	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		140175000	40740260	32	13632										
PCDHB11	56125	genome.wustl.edu	37	chr5	140580667	140580667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gagcacaacacaactgtgttGgtctctgacgtcaatgacaa	9	10	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:140580667G>T	ENST00000354757.3	+	1	1320	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.L75F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTGTGTTGGTCTCTGACG	0.567																																																	0													154	138	143					5																	140580667		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1320G>T	5.37:g.140580667G>T	ENSP00000346802:p.Leu440Phe		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L440F	ENST00000354757.3	37	c.1320	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	3.278	-0.147572	0.06627	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.01787	4.64;4.64	2.52	1.62	0.23740	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02610	0.0079	M	0.61703	1.905	0.09310	N	1	B	0.15930	0.015	B	0.32805	0.153	T	0.49244	-0.8960	9	0.13108	T	0.6	.	4.9703	0.14111	0.1188:0.0:0.6765:0.2047	.	440	Q9Y5F2	PCDBB_HUMAN	F	75;440;128	ENSP00000440344:L75F;ENSP00000346802:L440F	ENSP00000346802:L440F	L	+	3	2	PCDHB11	140560851	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-2.816000	0.00752	0.389000	0.25086	0.306000	0.20318	TTG	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140580667	1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.005	T	T	140580667	G	T	140580667	3	4	96	1	0	0	0	0	1	0	0	0	11560	1339	47	4	1322	4	PCDHB11	5	140580667	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	405667	140580667	40334593	33	13633										
PCDHGA8	9708	genome.wustl.edu	37	chr5	140774555	140774555	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tggcacaagtcacgcctgctCcaggattccggtggcagatt	12	12	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:140774555C>T	ENST00000398604.2	+	1	2175	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	725					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCCTGCTCCAGGATTCCG	0.592																																																	0													48	53	51					5																	140774555		2191	4296	6487	SO:0001819	synonymous_variant	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2175C>T	5.37:g.140774555C>T			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L725	ENST00000398604.2	37	c.2175	CCDS47291.1	5																																																																																			PCDHGA8	-	NULL		0.592	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140774555	1	no_errors	ENST00000398604	ensembl	human	known	70_37	silent	SNP	0.002	T	T	140774555	C	T	140774555	2	4	96	1	0	0	0	0	0	0	0	1	11584	842	30	1		1	PCDHGA8	5	140774555	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	193888	140774555	40140705	34	13634										
PPP2R5D	5528	genome.wustl.edu	37	chr6	42957400	42957400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agcctagcagctcgggcaagGatggtggaggcgagaacact	16	9	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:42957400G>A	ENST00000485511.1	+	2	258	c.79G>A	c.(79-81)Gat>Aat	p.D27N	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.D27N|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.D27N	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	27					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCGGGCAAGGATGGTGGAGG	0.542																																					Melanoma(63;587 1613 29742 31770)												0													78	72	74					6																	42957400		2203	4300	6503	SO:0001583	missense	5528			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.79G>A	6.37:g.42957400G>A	ENSP00000417963:p.Asp27Asn		A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D27N	ENST00000485511.1	37	c.79	CCDS4878.1	6	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138308	0.56936	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610	T;T;T	0.47869	0.95;0.83;0.85	5.82	4.95	0.65309	.	38.610700	0.00166	N	0.000000	T	0.39436	0.1078	N	0.08118	0	0.80722	D	1	D;B	0.63880	0.993;0.299	D;B	0.68192	0.956;0.125	T	0.27673	-1.0067	10	0.66056	D	0.02	-19.2555	10.8326	0.46669	0.0862:0.0:0.9138:0.0	.	27;27	Q14738;Q14738-2	2A5D_HUMAN;.	N	27	ENSP00000417963:D27N;ENSP00000377669:D27N;ENSP00000420550:D27N	ENSP00000230402:D27N	D	+	1	0	PPP2R5D	43065378	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.760000	0.62235	1.484000	0.48361	0.655000	0.94253	GAT	PPP2R5D	-	pirsf_PP2A_B56		0.542	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	G	NM_006245		42957400	1	no_errors	ENST00000485511	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42957400	G	A	42957400	3	1	96	1	0	0	0	0	1	0	0	0	12422	1174	41	1	85	1	PPP2R5D	6	42957400	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09		42957400	128157667	35	13635										
TCTE1	202500	genome.wustl.edu	37	chr6	44249874	44249874	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	atgtggttgcaggacaggttGatgctggtgagtgtggtgtt	18	3	0	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:44249874G>C	ENST00000371505.4	-	4	1391	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	423										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGACAGGTTGATGCTGGTGA	0.582																																																	0													107	85	93					6																	44249874		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1269C>G	6.37:g.44249874G>C	ENSP00000360560:p.Ile423Met		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I423M	ENST00000371505.4	37	c.1269	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336327	0.41398	.	.	ENSG00000146221	ENST00000371505	T	0.55588	0.51	5.28	4.41	0.53225	.	0.376246	0.29846	N	0.011047	T	0.50871	0.1641	M	0.66560	2.04	0.80722	D	1	D	0.54601	0.967	P	0.55222	0.771	T	0.56589	-0.7954	10	0.54805	T	0.06	-30.5586	9.8179	0.40865	0.074:0.1394:0.7867:0.0	.	423	Q5JU00	TCTE1_HUMAN	M	423	ENSP00000360560:I423M	ENSP00000360560:I423M	I	-	3	3	TCTE1	44357852	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.192000	0.50989	1.388000	0.46506	0.505000	0.49811	ATC	TCTE1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	G	NM_182539		44249874	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44249874	G	C	44249874	3	2	96	1	0	0	0	0	1	0	0	0	15747	1280	45	1	244	1	TCTE1	6	44249874	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	1292474	44249874	126865193	36	13636										
TRMT11	60487	genome.wustl.edu	37	chr6	126359936	126359936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccgtgagaaatattttagtgGggtaacaaaaagaattgcca	10	5	0	2	rs577359033		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:126359936G>T	ENST00000334379.5	+	13	1467	c.1346G>T	c.(1345-1347)gGg>gTg	p.G449V	TRMT11_ENST00000368332.3_Missense_Mutation_p.G444V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	449					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TATTTTAGTGGGGTAACAAAA	0.343																																																	0													79	86	83					6																	126359936		2203	4299	6502	SO:0001583	missense	60487			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1346G>T	6.37:g.126359936G>T	ENSP00000333934:p.Gly449Val		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.G449V	ENST00000334379.5	37	c.1346	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123302	0.56613	.	.	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.50277	0.75;0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.85630	2.765	0.80722	D	1	P;D	0.89917	0.928;1.0	P;D	0.74674	0.595;0.984	T	0.71906	-0.4451	10	0.59425	D	0.04	-14.8284	20.327	0.98704	0.0:0.0:1.0:0.0	.	444;449	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	V	449;444	ENSP00000333934:G449V;ENSP00000357316:G444V	ENSP00000333934:G449V	G	+	2	0	TRMT11	126401629	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	6.778000	0.75043	2.794000	0.96219	0.650000	0.86243	GGG	TRMT11	-	pirsf_tRNA_mtfrase_TRM11		0.343	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		G	NM_021820		126359936	1	no_errors	ENST00000334379	ensembl	human	known	70_37	missense	SNP	0.997	T	T	126359936	G	T	126359936	3	4	96	1	0	0	0	0	1	0	0	0	16593	1232	43	4	1396	4	TRMT11	6	126359936	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	82110062	126359936	44755131	37	13637										
ENPP3	5169	genome.wustl.edu	37	chr6	131995358	131995358	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aatatgtatgatgtaaatctCaacaagaatttttcactttc	4	6	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:131995358C>G	ENST00000414305.1	+	9	1027	c.699C>G	c.(697-699)ctC>ctG	p.L233L	ENPP3_ENST00000543135.1_Silent_p.L199L|ENPP3_ENST00000427148.2_Silent_p.L199L|ENPP3_ENST00000357639.3_Silent_p.L233L|ENPP3_ENST00000358229.5_Silent_p.L233L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	233	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTAAATCTCAACAAGAATT	0.343																																																	0													59	55	57					6																	131995358		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.699C>G	6.37:g.131995358C>G			Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.L233	ENST00000414305.1	37	c.699	CCDS5148.1	6																																																																																			ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.343	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	C			131995358	1	no_errors	ENST00000357639	ensembl	human	known	70_37	silent	SNP	0.974	G	G	131995358	C	G	131995358	2	3	96	1	0	0	0	0	0	0	0	1	5143	813	29	1		1	ENPP3	6	131995358	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	5635422	131995358	39119709	38	13638										
T	6862	genome.wustl.edu	37	chr6	166580205	166580205	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gcagctgggcgcctgcggctCcggcttgccccccggcaccc	14	20	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:166580205C>G	ENST00000296946.2	-	3	814	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	T_ENST00000366871.3_Missense_Mutation_p.E116Q	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	116					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E116fs*49(1)|p.E116Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCCTGCGGCTCCGGCTTGCCC	0.652									Chordoma, Familial Clustering of																																								2	Substitution - Missense(1)|Deletion - Frameshift(1)	lung(1)|autonomic_ganglia(1)											46	50	49					6																	166580205		2203	4300	6503	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.346G>C	6.37:g.166580205C>G	ENSP00000296946:p.Glu116Gln		E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.E116Q	ENST00000296946.2	37	c.346	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.291754	0.95546	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.90504	-2.68;-2.68;-2.68	4.62	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	M	0.90309	3.105	0.58432	D	0.999996	D;D;P	0.89917	1.0;0.995;0.887	D;P;P	0.91635	0.999;0.878;0.668	D	0.96379	0.9280	10	0.66056	D	0.02	.	16.8408	0.85968	0.0:1.0:0.0:0.0	.	116;116;116	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	Q	116	ENSP00000355841:E116Q;ENSP00000296946:E116Q;ENSP00000355836:E116Q	ENSP00000296946:E116Q	E	-	1	0	T	166500195	1.000000	0.71417	0.710000	0.30468	0.993000	0.82548	7.243000	0.78219	2.290000	0.77057	0.655000	0.94253	GAG	T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury		0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	C	NM_003181		166580205	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	missense	SNP	0.057	G	G	166580205	C	G	166580205	3	3	96	1	0	0	0	0	1	0	0	0	15518	864	30	1	989	1	T	6	166580205	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	34584847	166580205	4534862	39	13639										
MEOX2	4223	genome.wustl.edu	37	chr7	15725543	15725543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttttcctcttgccgccgcttCgcttctccgcctccgcaggt	8	18	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:15725543C>T	ENST00000262041.5	-	1	894	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	162					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCCGCCGCTTCGCTTCTCCGC	0.692																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													68	80	76					7																	15725543		2196	4286	6482	SO:0001583	missense	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.485G>A	7.37:g.15725543C>T	ENSP00000262041:p.Arg162Gln		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R162Q	ENST00000262041.5	37	c.485	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495092	0.85069	.	.	ENSG00000106511	ENST00000262041	D	0.90133	-2.62	5.3	5.3	0.74995	.	0.095692	0.64402	D	0.000001	D	0.91872	0.7427	L	0.47716	1.5	0.54753	D	0.999989	D	0.69078	0.997	P	0.55965	0.788	D	0.89903	0.4046	10	0.25751	T	0.34	-13.9179	18.9556	0.92657	0.0:1.0:0.0:0.0	.	162	P50222	MEOX2_HUMAN	Q	162	ENSP00000262041:R162Q	ENSP00000262041:R162Q	R	-	2	0	MEOX2	15692068	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.901000	0.75693	2.464000	0.83262	0.563000	0.77884	CGA	MEOX2	-	NULL		0.692	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	C	NM_005924		15725543	-1	no_errors	ENST00000262041	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15725543	C	T	15725543	3	4	96	1	0	0	0	0	1	0	0	0	9497	884	31	1	441	1	MEOX2	7	15725543	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		15725543	143413120	40	13640										
MACC1	346389	genome.wustl.edu	37	chr7	20193818	20193818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cacaaacagaagtcttacctCaacagcaacatctccagtgt	5	13	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:20193818C>G	ENST00000400331.5	-	6	2652	c.2344G>C	c.(2344-2346)Gag>Cag	p.E782Q	MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000589011.1_Missense_Mutation_p.E782Q|MACC1_ENST00000332878.4_Missense_Mutation_p.E782Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	782					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGTCTTACCTCAACAGCAACA	0.418																																																	0													178	157	164					7																	20193818		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2344G>C	7.37:g.20193818C>G	ENSP00000383185:p.Glu782Gln		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.E782Q	ENST00000400331.5	37	c.2344	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437821	0.25900	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.39787	1.06;1.06	5.25	5.25	0.73442	.	0.050734	0.85682	D	0.000000	T	0.31327	0.0793	L	0.40543	1.245	0.42433	D	0.992684	P	0.39748	0.686	B	0.32090	0.14	T	0.10917	-1.0609	10	0.27785	T	0.31	-18.4298	14.4591	0.67438	0.0:0.8529:0.1471:0.0	.	782	Q6ZN28	MACC1_HUMAN	Q	782	ENSP00000383185:E782Q;ENSP00000328410:E782Q	ENSP00000328410:E782Q	E	-	1	0	MACC1	20160343	1.000000	0.71417	0.939000	0.37840	0.117000	0.20001	4.034000	0.57289	2.442000	0.82660	0.655000	0.94253	GAG	MACC1	-	NULL		0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	C	NM_182762		20193818	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	missense	SNP	0.969	G	G	20193818	C	G	20193818	3	3	96	1	0	0	0	0	1	0	0	0	9166	835	29	1	222	1	MACC1	7	20193818	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	4468275	20193818	138944845	41	13641										
NFE2L3	9603	genome.wustl.edu	37	chr7	26224804	26224804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttacatttcaacacgtatttCataaccacacttaccactta	1	12	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:26224804C>G	ENST00000056233.3	+	4	1745	c.1486C>G	c.(1486-1488)Cat>Gat	p.H496D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	496					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.H496Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACACGTATTTCATAACCACAC	0.438																																																	1	Substitution - Missense(1)	urinary_tract(1)											165	155	158					7																	26224804		2203	4300	6503	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1486C>G	7.37:g.26224804C>G	ENSP00000056233:p.His496Asp		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.H496D	ENST00000056233.3	37	c.1486	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118139	0.77323	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.38077	1.16	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.74188	-0.3746	10	0.72032	D	0.01	-22.7393	18.9601	0.92674	0.0:1.0:0.0:0.0	.	496	Q9Y4A8	NF2L3_HUMAN	D	496;202	ENSP00000056233:H496D	ENSP00000056233:H496D	H	+	1	0	NFE2L3	26191329	0.979000	0.34478	0.806000	0.32338	0.860000	0.49131	3.403000	0.52615	2.564000	0.86499	0.591000	0.81541	CAT	NFE2L3	-	NULL		0.438	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	C			26224804	1	no_errors	ENST00000056233	ensembl	human	known	70_37	missense	SNP	0.998	G	G	26224804	C	G	26224804	3	3	96	1	0	0	0	0	1	0	0	0	10393	826	29	1	1500	1	NFE2L3	7	26224804	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	6030986	26224804	132913859	42	13642										
PCLO	27445	genome.wustl.edu	37	chr7	82764339	82764339	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tacggggtcaacttgtttttGacctttgctctctgaactgg	10	9	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:82764339G>A	ENST00000333891.9	-	3	2864	c.2527C>T	c.(2527-2529)Caa>Taa	p.Q843*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q843*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTGTTTTTGACCTTTGCTC	0.438																																																	0													152	153	153					7																	82764339		1907	4119	6026	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2527C>T	7.37:g.82764339G>A	ENSP00000334319:p.Gln843*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.Q843*	ENST00000333891.9	37	c.2527	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.654764	0.99445	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	6.07	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.44976	D	0.997996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3318	0.49482	0.0:0.1235:0.417:0.4595	.	.	.	.	X	789;843;843	.	ENSP00000334319:Q843X	Q	-	1	0	PCLO	82602275	0.292000	0.24362	0.078000	0.20375	0.912000	0.54170	0.811000	0.27198	0.103000	0.17682	-0.211000	0.12701	CAA	PCLO	-	NULL		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82764339	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	nonsense	SNP	0.421	A	A	82764339	G	A	82764339	4	1	96	1	0	0	0	0	0	1	0	0	11607	1299	45	1	13010	1	PCLO	7	82764339	Nonsense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	56539535	82764339	76374324	43	13643										
TRRAP	8295	genome.wustl.edu	37	chr7	98557093	98557093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aactcaagctgcagtggttcGacaagctgctgatgactgtg	12	9	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:98557093G>A	ENST00000359863.4	+	44	6657	c.6448G>A	c.(6448-6450)Gac>Aac	p.D2150N	TRRAP_ENST00000355540.3_Missense_Mutation_p.D2132N|TRRAP_ENST00000446306.3_Missense_Mutation_p.D2131N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2150	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGTGGTTCGACAAGCTGCT	0.612																																																	0													133	99	110					7																	98557093		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6448G>A	7.37:g.98557093G>A	ENSP00000352925:p.Asp2150Asn		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D2150N	ENST00000359863.4	37	c.6448	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.800961	0.96960	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65364	-0.15;-0.15	5.55	5.55	0.83447	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;P;P	0.69824	0.966;0.878;0.82	T	0.78450	-0.2199	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	2132;1871;2150	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	N	2150;2132;2130	ENSP00000352925:D2150N;ENSP00000347733:D2132N	ENSP00000347733:D2132N	D	+	1	0	TRRAP	98395029	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.739000	0.98837	2.600000	0.87896	0.655000	0.94253	GAC	TRRAP	-	superfamily_ARM-type_fold		0.612	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98557093	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98557093	G	A	98557093	3	1	96	1	0	0	0	0	1	0	0	0	16632	1058	37	1	6560	1	TRRAP	7	98557093	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	15792754	98557093	60581570	44	13644										
CPSF4	10898	genome.wustl.edu	37	chr7	99042428	99042428	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	acagagtcgggcgctgctgtCtgtgaattctttttgaaagc	12	8	2	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:99042428C>T	ENST00000292476.5	+	2	130	c.120C>T	c.(118-120)gtC>gtT	p.V40V	CPSF4_ENST00000436336.2_Silent_p.V40V|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_5'UTR|CPSF4_ENST00000451876.1_Silent_p.V40V			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	40					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCGCTGCTGTCTGTGAATTCT	0.537																																																	0													172	192	185					7																	99042428		2203	4300	6503	SO:0001819	synonymous_variant	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.120C>T	7.37:g.99042428C>T			D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V40	ENST00000292476.5	37	c.120	CCDS5664.1	7																																																																																			CPSF4	-	smart_Znf_CCCH		0.537	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	C			99042428	1	no_errors	ENST00000292476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	99042428	C	T	99042428	2	4	96	1	0	0	0	0	0	0	0	1	3833	900	32	1		1	CPSF4	7	99042428	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	485335	99042428	60096235	45	13645										
ZNF3	7551	genome.wustl.edu	37	chr7	99669626	99669626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cctgggggttagcttctcctCaactgtcacttgaccaaaat	8	12	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:99669626C>T	ENST00000424697.1	-	6	787	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZNF3_ENST00000303915.6_Missense_Mutation_p.E161K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E161K|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	161					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGCTTCTCCTCAACTGTCACT	0.473																																																	0													143	138	140					7																	99669626		1898	4118	6016	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.481G>A	7.37:g.99669626C>T	ENSP00000415358:p.Glu161Lys		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E161K	ENST00000424697.1	37	c.481	CCDS43619.1	7	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134859	0.06711	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06142	3.34;3.34;3.34;5.32;5.45;5.45	4.71	4.71	0.59529	.	0.271271	0.26800	N	0.022435	T	0.04497	0.0123	N	0.17674	0.51	0.30581	N	0.762485	B;B	0.30763	0.292;0.294	B;B	0.28991	0.097;0.087	T	0.13683	-1.0500	10	0.07030	T	0.85	-9.2926	15.5579	0.76213	0.0:1.0:0.0:0.0	.	144;161	B3KRP4;P17036	.;ZNF3_HUMAN	K	161;161;161;125;161;161	ENSP00000415358:E161K;ENSP00000306372:E161K;ENSP00000299667:E161K;ENSP00000416088:E125K;ENSP00000405970:E161K;ENSP00000388042:E161K	ENSP00000299667:E161K	E	-	1	0	ZNF3	99507562	0.004000	0.15560	0.038000	0.18304	0.125000	0.20455	0.780000	0.26760	2.628000	0.89032	0.591000	0.81541	GAG	ZNF3	-	NULL		0.473	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336247.3	C	NM_017715		99669626	-1	no_errors	ENST00000299667	ensembl	human	known	70_37	missense	SNP	0.719	T	T	99669626	C	T	99669626	3	4	96	1	0	0	0	0	1	0	0	0	17859	835	29	1	992	1	ZNF3	7	99669626	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	627198	99669626	59469037	46	13646										
CLCN1	1180	genome.wustl.edu	37	chr7	143017825	143017825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	acgggatctttctggtgcttCtgggactgctgatggctctg	14	9	4	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:143017825C>T	ENST00000343257.2	+	3	457	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	124					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTGGTGCTTCTGGGACTGCT	0.507																																																	0													196	160	172					7																	143017825		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.370C>T	7.37:g.143017825C>T			A4D2H5|Q2M202	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.L124	ENST00000343257.2	37	c.370	CCDS5881.1	7																																																																																			CLCN1	-	superfamily_Cl-channel_core		0.507	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	C	NM_000083		143017825	1	no_errors	ENST00000343257	ensembl	human	known	70_37	silent	SNP	1.000	T	T	143017825	C	T	143017825	2	4	96	1	0	0	0	0	0	0	0	1	3467	912	32	1		1	CLCN1	7	143017825	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	43348199	143017825	16120838	47	13647										
LONRF1	91694	genome.wustl.edu	37	chr8	12594212	12594212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aaagttttatatgcttacctCatgcagagagaacactcgaa	7	8	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:12594212C>G	ENST00000398246.3	-	6	1518	c.1449G>C	c.(1447-1449)atG>atC	p.M483I	LONRF1_ENST00000533751.1_Missense_Mutation_p.M126I|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	483							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ATGCTTACCTCATGCAGAGAG	0.303																																																	0													63	58	60					8																	12594212		1812	4069	5881	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1449G>C	8.37:g.12594212C>G	ENSP00000381298:p.Met483Ile		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.M483I	ENST00000398246.3	37	c.1449	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586592	0.86851	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	D;D;D	0.84730	-1.89;-1.89;-1.89	4.98	4.98	0.66077	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.081559	0.85682	D	0.000000	D	0.83917	0.5358	N	0.26092	0.79	0.80722	D	1	B;B	0.33379	0.357;0.41	B;B	0.44224	0.316;0.444	D	0.83939	0.0310	10	0.54805	T	0.06	-13.6649	19.1382	0.93436	0.0:1.0:0.0:0.0	.	472;483	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	I	483;126;86	ENSP00000381298:M483I;ENSP00000432130:M126I;ENSP00000433327:M86I	ENSP00000381298:M483I	M	-	3	0	LONRF1	12638583	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.389000	0.79806	2.683000	0.91414	0.650000	0.86243	ATG	LONRF1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.303	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	C	NM_152271		12594212	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12594212	C	G	12594212	3	3	96	1	0	0	0	0	1	0	0	0	8917	826	29	1	900	1	LONRF1	8	12594212	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		12594212	133769810	48	13648										
PURG	29942	genome.wustl.edu	37	chr8	30889857	30889857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tgccgagtgcttctgcctccTtctggagccttgctctttgc	10	14	3	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:30889857T>A	ENST00000475541.1	-	1	1374	c.442A>T	c.(442-444)Agg>Tgg	p.R148W	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R148W	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	148						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTCTGCCTCCTTCTGGAGCCT	0.577																																																	0													79	84	83					8																	30889857		2203	4300	6503	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.442A>T	8.37:g.30889857T>A	ENSP00000418721:p.Arg148Trp		Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R148W	ENST00000475541.1	37	c.442	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696937	0.48202	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.26223	1.75;1.76	5.11	3.97	0.46021	.	0.085608	0.40064	N	0.001195	T	0.24586	0.0596	N	0.22421	0.69	0.41162	D	0.986104	D;D	0.61697	0.986;0.99	P;P	0.54590	0.756;0.726	T	0.02064	-1.1220	10	0.46703	T	0.11	.	6.987	0.24733	0.0:0.0806:0.1509:0.7684	.	148;148	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	W	148	ENSP00000345168:R148W;ENSP00000418721:R148W	ENSP00000345168:R148W	R	-	1	2	PURG	31009399	1.000000	0.71417	0.890000	0.34922	0.264000	0.26372	2.384000	0.44362	1.902000	0.55061	0.533000	0.62120	AGG	PURG	-	pfam_PUR_DNA_RNA-bd		0.577	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	T	NM_013357		30889857	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	missense	SNP	0.995	A	A	30889857	T	A	30889857	3	1	96	1	0	0	0	0	1	0	0	0	12859	1608	56	5	714	5	PURG	8	30889857	Missense_Mutation	SNP	T	TCGA-EK-A2IP-01A-11D-A17W-09	18295645	30889857	115474165	49	13649										
PRKDC	5591	genome.wustl.edu	37	chr8	48777246	48777246	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tccacaaaggactggcgtgtGaaacttaggcgggggtcatc	14	9	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:48777246G>A	ENST00000314191.2	-	42	5495	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	PRKDC_ENST00000338368.3_Silent_p.F1813F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1814					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACTGGCGTGTGAAACTTAGGC	0.483								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													58	62	61					8																	48777246		1976	4152	6128	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5439C>T	8.37:g.48777246G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F1813	ENST00000314191.2	37	c.5439		8																																																																																			PRKDC	-	superfamily_ARM-type_fold		0.483	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48777246	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.027	A	A	48777246	G	A	48777246	2	1	96	1	0	0	0	0	0	0	0	1	12548	1281	45	1		1	PRKDC	8	48777246	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	17887389	48777246	97586776	50	13650										
SULF1	23213	genome.wustl.edu	37	chr8	70553066	70553066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ataaagatggaggaagctatGacctacacaggtattcacac	9	8	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:70553066G>A	ENST00000260128.4	+	22	3292	c.2575G>A	c.(2575-2577)Gac>Aac	p.D859N	SULF1_ENST00000402687.4_Missense_Mutation_p.D859N|SULF1_ENST00000419716.3_Missense_Mutation_p.D859N|SULF1_ENST00000458141.2_Missense_Mutation_p.D859N|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	859					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGAAGCTATGACCTACACAG	0.333																																																	0													91	86	88					8																	70553066		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2575G>A	8.37:g.70553066G>A	ENSP00000260128:p.Asp859Asn		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.D859N	ENST00000260128.4	37	c.2575	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066032	0.76187	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	L	0.56769	1.78	0.58432	D	0.99999	B	0.31383	0.321	B	0.31946	0.138	D	0.96485	0.9359	10	0.56958	D	0.05	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	859	Q8IWU6	SULF1_HUMAN	N	859	ENSP00000403040:D859N;ENSP00000260128:D859N;ENSP00000385704:D859N;ENSP00000390315:D859N	ENSP00000260128:D859N	D	+	1	0	SULF1	70715620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.985000	0.93487	2.941000	0.99782	0.655000	0.94253	GAC	SULF1	-	pirsf_Extracellular_sulfatase		0.333	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	G	NM_015170		70553066	1	no_errors	ENST00000260128	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70553066	G	A	70553066	3	1	96	1	0	0	0	0	1	0	0	0	15400	1290	45	1	2645	1	SULF1	8	70553066	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	21775820	70553066	75810956	51	13651										
ZFHX4	79776	genome.wustl.edu	37	chr8	77767017	77767017	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccggaacagctggaaatactCtatgaaaaatacttgctgga	9	8	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:77767017C>G	ENST00000521891.2	+	10	8308	c.7860C>G	c.(7858-7860)ctC>ctG	p.L2620L	ZFHX4_ENST00000518282.1_Silent_p.L2594L|ZFHX4_ENST00000050961.6_Silent_p.L2575L|ZFHX4_ENST00000455469.2_Silent_p.L2575L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAATACTCTATGAAAAAT	0.448										HNSCC(33;0.089)																																							0													39	39	39					8																	77767017		1861	4096	5957	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7860C>G	8.37:g.77767017C>G			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L2620	ENST00000521891.2	37	c.7860	CCDS47878.2	8																																																																																			ZFHX4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77767017	1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	0.996	G	G	77767017	C	G	77767017	2	3	96	1	0	0	0	0	0	0	0	1	17665	900	32	1		1	ZFHX4	8	77767017	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	7213951	77767017	68597005	52	13652										
PLEC	5339	genome.wustl.edu	37	chr8	144992696	144992696	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtagccggtgaccgcccgctCagccgagagcaggcggtcgt	16	14	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:144992696C>T	ENST00000322810.4	-	32	11873	c.11704G>A	c.(11704-11706)Gag>Aag	p.E3902K	PLEC_ENST00000436759.2_Missense_Mutation_p.E3792K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3751K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3769K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3788K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3765K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3733K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3743K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3765K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3902	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCGCCCGCTCAGCCGAGAGC	0.672																																																	0													8	11	10					8																	144992696		1954	4064	6018	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11704G>A	8.37:g.144992696C>T	ENSP00000323856:p.Glu3902Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E3902K	ENST00000322810.4	37	c.11704	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311494	0.23821	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.22	4.22	0.49857	.	0.000000	0.64402	U	0.000016	D	0.86016	0.5832	M	0.86651	2.83	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.57257	0.974;0.974;0.974;0.979;0.974;0.974;0.974;0.974	P;P;P;P;P;P;P;P	0.60949	0.811;0.811;0.811;0.881;0.811;0.811;0.811;0.811	D	0.89075	0.3472	10	0.72032	D	0.01	.	15.5025	0.75709	0.0:1.0:0.0:0.0	.	3792;3751;3743;3902;3733;3765;3769;3765	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3765;3769;3765;3733;3902;3743;3751;3792;3788	ENSP00000344848:E3765K;ENSP00000350277:E3769K;ENSP00000346602:E3765K;ENSP00000381756:E3733K;ENSP00000323856:E3902K;ENSP00000347044:E3743K;ENSP00000348702:E3751K;ENSP00000388180:E3792K;ENSP00000434583:E3788K	ENSP00000323856:E3902K	E	-	1	0	PLEC	145064684	1.000000	0.71417	0.907000	0.35723	0.012000	0.07955	7.593000	0.82686	2.174000	0.68829	0.453000	0.30009	GAG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144992696	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.999	T	T	144992696	C	T	144992696	3	4	96	1	0	0	0	0	1	0	0	0	12076	835	29	1	2354	1	PLEC	8	144992696	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	67225679	144992696	1371326	53	13653										
PLEC	5339	genome.wustl.edu	37	chr8	144993135	144993135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	atctcgatgatgatgatgatCatgcgttccttggtcacccg	10	10	3	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:144993135C>T	ENST00000322810.4	-	32	11434	c.11265G>A	c.(11263-11265)atG>atA	p.M3755I	PLEC_ENST00000436759.2_Missense_Mutation_p.M3645I|PLEC_ENST00000356346.3_Missense_Mutation_p.M3604I|PLEC_ENST00000357649.2_Missense_Mutation_p.M3622I|PLEC_ENST00000527096.1_Missense_Mutation_p.M3641I|PLEC_ENST00000345136.3_Missense_Mutation_p.M3618I|PLEC_ENST00000398774.2_Missense_Mutation_p.M3586I|PLEC_ENST00000354958.2_Missense_Mutation_p.M3596I|PLEC_ENST00000354589.3_Missense_Mutation_p.M3618I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3755	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGATGATGATCATGCGTTCCT	0.622																																																	0													50	58	55					8																	144993135		2182	4276	6458	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11265G>A	8.37:g.144993135C>T	ENSP00000323856:p.Met3755Ile		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.M3755I	ENST00000322810.4	37	c.11265	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349270	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79454	-1.24;-1.24;-1.27;-1.27;-1.25;-1.24;-1.24;-1.23;-1.24	4.35	4.35	0.52113	.	0.000000	0.85682	U	0.000000	T	0.67268	0.2875	N	0.22421	0.69	0.53688	D	0.999976	B;B;B;B;B;B;B;B	0.12630	0.005;0.005;0.005;0.006;0.005;0.005;0.005;0.005	B;B;B;B;B;B;B;B	0.15484	0.013;0.013;0.013;0.006;0.013;0.013;0.013;0.013	T	0.64956	-0.6285	10	0.48119	T	0.1	.	16.6623	0.85244	0.0:1.0:0.0:0.0	.	3645;3604;3596;3755;3586;3618;3622;3618	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	3618;3622;3618;3586;3755;3596;3604;3645;3641	ENSP00000344848:M3618I;ENSP00000350277:M3622I;ENSP00000346602:M3618I;ENSP00000381756:M3586I;ENSP00000323856:M3755I;ENSP00000347044:M3596I;ENSP00000348702:M3604I;ENSP00000388180:M3645I;ENSP00000434583:M3641I	ENSP00000323856:M3755I	M	-	3	0	PLEC	145065123	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	5.694000	0.68272	2.257000	0.74773	0.448000	0.29417	ATG	PLEC	-	NULL		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144993135	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144993135	C	T	144993135	3	4	96	1	0	0	0	0	1	0	0	0	12076	826	29	1	2793	1	PLEC	8	144993135	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	439	144993135	1370887	54	13654										
CDKN2A	1029	genome.wustl.edu	37	chr9	21974669	21974669	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctgctcccgctgcagaccctCtacccacctggatcggcctc	8	20	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:21974669C>G	ENST00000304494.5	-	1	421				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(14)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCAGACCCTCTACCCACCTG	0.662		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1331	Whole gene deletion(1316)|Unknown(14)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(169)|central_nervous_system(162)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											101	119	113					9																	21974669		2203	4300	6503	SO:0001627	intron_variant	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+7G>C	9.37:g.21974669C>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R53T	ENST00000304494.5	37	c.158	CCDS6510.1	9																																																																																			CDKN2A	-	NULL		0.662	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	C	NM_000077		21974669	-1	no_errors	ENST00000380151	ensembl	human	known	70_37	missense	SNP	0.006	G	G	21974669	C	G	21974669	1	3	96	0	1	0	0	0	0	0	0	0	3166	913	32	1		1	CDKN2A	9	21974669	Intron	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		21974669	119238762	55	13655										
KIF12	113220	genome.wustl.edu	37	chr9	116859689	116859689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gcgaacagggaggggccgggGagaccccaggctcagcaagt	18	11	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:116859689G>A	ENST00000374118.3	-	4	361	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	175	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGGGGCCGGGGAGACCCCAGG	0.602																																																	0													24	29	27					9																	116859689		2203	4299	6502	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.124C>T	9.37:g.116859689G>A	ENSP00000363232:p.Pro42Ser		Q5TBE0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P175S	ENST00000374118.3	37	c.523	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196623	0.58126	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.71461	-0.57	5.26	3.42	0.39159	Kinesin, motor domain (4);	0.284342	0.30704	N	0.009045	T	0.47377	0.1442	N	0.11154	0.105	0.32245	N	0.572156	B	0.16603	0.018	B	0.26517	0.07	T	0.45220	-0.9276	10	0.16420	T	0.52	.	7.2805	0.26308	0.0917:0.1707:0.7377:0.0	.	175	Q96FN5	KIF12_HUMAN	S	42;175	ENSP00000363232:P42S	ENSP00000259410:P175S	P	-	1	0	KIF12	115899510	0.993000	0.37304	0.999000	0.59377	0.938000	0.57974	1.770000	0.38532	0.578000	0.29487	0.555000	0.69702	CCC	KIF12	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.602	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116859689	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	missense	SNP	0.981	A	A	116859689	G	A	116859689	3	1	96	1	0	0	0	0	1	0	0	0	8293	1174	41	1	1469	1	KIF12	9	116859689	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	94885020	116859689	24353742	56	13656										
OLFML2A	169611	genome.wustl.edu	37	chr9	127557323	127557323	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctgcagtccatggtggatctCctggagggcaccctgtacag	13	12	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:127557323C>T	ENST00000373580.3	+	3	375	c.375C>T	c.(373-375)ctC>ctT	p.L125L		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	125					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGTGGATCTCCTGGAGGGCA	0.602																																																	0													23	25	24					9																	127557323		2022	4164	6186	SO:0001819	synonymous_variant	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.375C>T	9.37:g.127557323C>T			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.L125	ENST00000373580.3	37	c.375	CCDS6857.2	9																																																																																			OLFML2A	-	NULL		0.602	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	C	NM_182487		127557323	1	no_errors	ENST00000373580	ensembl	human	known	70_37	silent	SNP	1.000	T	T	127557323	C	T	127557323	2	4	96	1	0	0	0	0	0	0	0	1	10881	842	30	1		1	OLFML2A	9	127557323	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	10697634	127557323	13656108	57	13657										
SCAI	286205	genome.wustl.edu	37	chr9	127738408	127738408	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cataccttgtaaagcttttgGatatgctgtaggagaaagca	10	6	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:127738408G>C	ENST00000336505.6	-	15	1442	c.1384C>G	c.(1384-1386)Cca>Gca	p.P462A	SCAI_ENST00000373549.4_Missense_Mutation_p.P485A	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	462					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AAAGCTTTTGGATATGCTGTA	0.338																																																	0													100	99	99					9																	127738408		1841	4084	5925	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1384C>G	9.37:g.127738408G>C	ENSP00000336756:p.Pro462Ala		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.P485A	ENST00000336505.6	37	c.1453	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160195	0.78226	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.52295	0.67;0.68	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.87269	2.87	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.77004	0.989;0.987	T	0.78892	-0.2025	10	0.66056	D	0.02	-10.0838	17.2222	0.86960	0.0:0.0:1.0:0.0	.	462;485	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	A	462;485	ENSP00000336756:P462A;ENSP00000362650:P485A	ENSP00000336756:P462A	P	-	1	0	SCAI	126778229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.879000	0.92398	2.297000	0.77311	0.491000	0.48974	CCA	SCAI	-	pfam_DUF3550,pirsf_UCP013022		0.338	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	G	NM_173690		127738408	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127738408	G	C	127738408	3	2	96	1	0	0	0	0	1	0	0	0	13899	1174	41	1	452	1	SCAI	9	127738408	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	181085	127738408	13475023	58	13658										
ITGA8	8516	genome.wustl.edu	37	chr10	15590516	15590516	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gactgcgctttctcctccttCgagtcgtcccactgcacagg	9	16	1	0	rs369955410		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr10:15590516C>G	ENST00000378076.3	-	27	3171	c.2818G>C	c.(2818-2820)Gaa>Caa	p.E940Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	940					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.E940Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTCCTCCTTCGAGTCGTCCC	0.468																																																	1	Substitution - Missense(1)	prostate(1)											181	148	159					10																	15590516		2203	4300	6503	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2818G>C	10.37:g.15590516C>G	ENSP00000367316:p.Glu940Gln		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E940Q	ENST00000378076.3	37	c.2818	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198370	0.58126	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50548	0.74	5.71	5.71	0.89125	.	0.396406	0.32430	N	0.006103	T	0.48995	0.1531	L	0.43152	1.355	0.22305	N	0.999219	P;P	0.40834	0.73;0.61	P;B	0.45474	0.482;0.289	T	0.45145	-0.9281	10	0.36615	T	0.2	.	16.7697	0.85534	0.0:1.0:0.0:0.0	.	925;940	F5H818;P53708	.;ITA8_HUMAN	Q	940;925	ENSP00000367316:E940Q	ENSP00000367316:E940Q	E	-	1	0	ITGA8	15630522	0.997000	0.39634	0.082000	0.20525	0.692000	0.40212	4.883000	0.63128	2.707000	0.92482	0.637000	0.83480	GAA	ITGA8	-	NULL		0.468	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	C	NM_003638		15590516	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	missense	SNP	0.726	G	G	15590516	C	G	15590516	3	3	96	1	0	0	0	0	1	0	0	0	7902	893	31	1	389	1	ITGA8	10	15590516	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		15590516	119944231	59	13659										
PKP3	11187	genome.wustl.edu	37	chr11	400353	400353	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ggaacctcagctcagcctctCaggccactcgccagaagatg	10	15	3	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:400353C>A	ENST00000331563.2	+	7	1544	c.1468C>A	c.(1468-1470)Cag>Aag	p.Q490K		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	490					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCAGCCTCTCAGGCCACTCG	0.682																																																	0													22	22	22					11																	400353		2068	4115	6183	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1468C>A	11.37:g.400353C>A	ENSP00000331678:p.Gln490Lys		F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q490K	ENST00000331563.2	37	c.1468	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896600	0.52121	.	.	ENSG00000184363	ENST00000331563	T	0.74737	-0.87	3.48	3.48	0.39840	Armadillo-like helical (1);Armadillo-type fold (1);	0.236462	0.35207	U	0.003374	T	0.64571	0.2610	L	0.42245	1.32	0.44702	D	0.997697	P	0.35328	0.495	B	0.33750	0.169	T	0.62455	-0.6851	10	0.14656	T	0.56	-25.5434	15.5405	0.76039	0.0:1.0:0.0:0.0	.	490	Q9Y446	PKP3_HUMAN	K	490	ENSP00000331678:Q490K	ENSP00000331678:Q490K	Q	+	1	0	PKP3	390353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	1.953000	0.56701	0.472000	0.43445	CAG	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		400353	1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	1.000	A	A	400353	C	A	400353	3	1	96	1	0	0	0	0	1	0	0	0	12010	827	29	3	1494	3	PKP3	11	400353	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		400353	134606163	60	13660										
NELL1	4745	genome.wustl.edu	37	chr11	20968933	20968933	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtcctcctttgaactgctcaGaaaaggatcacattcttcct	6	12	3	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:20968933G>T	ENST00000357134.5	+	11	1275	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	NELL1_ENST00000532434.1_Nonsense_Mutation_p.E375*|NELL1_ENST00000298925.5_Nonsense_Mutation_p.E403*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.E318*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	375					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACTGCTCAGAAAAGGATCA	0.458																																																	0													135	130	132					11																	20968933		2203	4300	6503	SO:0001587	stop_gained	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1123G>T	11.37:g.20968933G>T	ENSP00000349654:p.Glu375*		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.E375*	ENST00000357134.5	37	c.1123	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.069306	0.98638	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	5.23	0.72850	.	0.881424	0.09916	N	0.739084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.5535	15.3561	0.74428	0.0:0.0:0.861:0.1389	.	.	.	.	X	403;375;318;375	.	ENSP00000298925:E403X	E	+	1	0	NELL1	20925509	0.872000	0.30054	0.985000	0.45067	0.990000	0.78478	2.454000	0.44979	2.941000	0.99782	0.655000	0.94253	GAA	NELL1	-	smart_VWF_C		0.458	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	G	NM_006157		20968933	1	no_errors	ENST00000357134	ensembl	human	known	70_37	nonsense	SNP	0.986	T	T	20968933	G	T	20968933	4	4	96	1	0	0	0	0	0	1	0	0	10357	943	33	3	1165	3	NELL1	11	20968933	Nonsense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	20568580	20968933	114037583	61	13661										
SLC22A6	9356	genome.wustl.edu	37	chr11	62752073	62752073	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agggtgttgtgagaagccatCaggagcagggggaggaccac	18	7	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:62752073C>T	ENST00000377871.3	-	1	356	c.90G>A	c.(88-90)ctG>ctA	p.L30L	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Silent_p.L30L|SLC22A6_ENST00000458333.2_Silent_p.L30L|SLC22A6_ENST00000360421.4_Silent_p.L30L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	30					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAGAAGCCATCAGGAGCAGGG	0.647																																																	0													40	40	40					11																	62752073		2200	4298	6498	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.90G>A	11.37:g.62752073C>T			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L30	ENST00000377871.3	37	c.90	CCDS31591.1	11																																																																																			SLC22A6	-	tigrfam_Orgcat_transp		0.647	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	C	NM_004790		62752073	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62752073	C	T	62752073	2	4	96	1	0	0	0	0	0	0	0	1	14488	813	29	1		1	SLC22A6	11	62752073	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	41783140	62752073	72254443	62	13662										
CCDC88B	283234	genome.wustl.edu	37	chr11	64111690	64111690	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tcagacccacaggaggcagaGagtccccttcaggcagctgc	12	14	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:64111690G>A	ENST00000356786.5	+	14	1721	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	559						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAGGCAGAGAGTCCCCTTC	0.642																																																	0													50	57	55					11																	64111690		2201	4297	6498	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1677G>A	11.37:g.64111690G>A			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.E559	ENST00000356786.5	37	c.1677	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64111690	1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	0.017	A	A	64111690	G	A	64111690	2	1	96	1	0	0	0	0	0	0	0	1	2869	933	33	1		1	CCDC88B	11	64111690	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	1359617	64111690	70894826	63	13663										
CCDC88B	283234	genome.wustl.edu	37	chr11	64112594	64112594	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gccagcacttggaggaggctGagagggagcgccgggagaag	20	8	0	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:64112594G>A	ENST00000356786.5	+	14	2625	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	861						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGGAGGCTGAGAGGGAGCG	0.687																																																	0													5	5	5					11																	64112594		2003	4022	6025	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2581G>A	11.37:g.64112594G>A	ENSP00000349238:p.Glu861Lys		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.E861K	ENST00000356786.5	37	c.2581	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	11.85	1.763110	0.31228	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.24723	1.84	3.74	2.8	0.32819	.	.	.	.	.	T	0.38931	0.1059	L	0.56280	1.765	0.80722	D	1	D;P;D	0.63880	0.993;0.551;0.993	D;B;D	0.72625	0.978;0.184;0.978	T	0.12344	-1.0551	9	0.51188	T	0.08	.	5.7832	0.18318	0.1134:0.2027:0.6838:0.0	.	861;510;861	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	K	861	ENSP00000349238:E861K	ENSP00000349238:E861K	E	+	1	0	CCDC88B	63869170	0.523000	0.26274	0.104000	0.21259	0.049000	0.14656	1.504000	0.35726	0.863000	0.35553	-0.550000	0.04213	GAG	CCDC88B	-	NULL		0.687	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64112594	1	no_errors	ENST00000356786	ensembl	human	known	70_37	missense	SNP	0.852	A	A	64112594	G	A	64112594	3	1	96	1	0	0	0	0	1	0	0	0	2869	1291	45	1	2635	1	CCDC88B	11	64112594	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	904	64112594	70893922	64	13664										
CCDC88B	283234	genome.wustl.edu	37	chr11	64116887	64116887	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agctggagcaggcggctctcGagcgccaggaatttctgcga	15	11	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:64116887G>C	ENST00000356786.5	+	15	2745	c.2701G>C	c.(2701-2703)Gag>Cag	p.E901Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E53Q|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	901						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGGCTCTCGAGCGCCAGGA	0.637																																																	0													22	27	25					11																	64116887		2201	4297	6498	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2701G>C	11.37:g.64116887G>C	ENSP00000349238:p.Glu901Gln		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.E901Q	ENST00000356786.5	37	c.2701	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	14.66	2.600963	0.46423	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.51817	1.76;0.69	3.68	2.75	0.32379	.	.	.	.	.	T	0.55065	0.1897	L	0.54323	1.7	0.80722	D	1	P;D;D;P	0.76494	0.906;0.996;0.999;0.906	B;D;D;B	0.64506	0.412;0.909;0.926;0.412	T	0.54410	-0.8298	9	0.48119	T	0.1	.	6.1537	0.20326	0.1376:0.0:0.8624:0.0	.	901;37;550;901	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	Q	901;901;53	ENSP00000349238:E901Q;ENSP00000352974:E53Q	ENSP00000349238:E901Q	E	+	1	0	CCDC88B	63873463	0.988000	0.35896	0.819000	0.32651	0.298000	0.27526	3.418000	0.52721	2.031000	0.59945	0.539000	0.68188	GAG	CCDC88B	-	NULL		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64116887	1	no_errors	ENST00000356786	ensembl	human	known	70_37	missense	SNP	0.939	C	C	64116887	G	C	64116887	3	2	96	1	0	0	0	0	1	0	0	0	2869	1059	37	1	2759	1	CCDC88B	11	64116887	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	4293	64116887	70889629	65	13665										
PCNXL3	399909	genome.wustl.edu	37	chr11	65402865	65402865	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtcctggatgatgcctccgaCgagtacaagatcatcatgct	10	11	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65402865C>G	ENST00000355703.3	+	31	5669	c.5130C>G	c.(5128-5130)gaC>gaG	p.D1710E	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1710						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATGCCTCCGACGAGTACAAGA	0.632																																																	0													23	24	23					11																	65402865		2068	4205	6273	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5130C>G	11.37:g.65402865C>G	ENSP00000347931:p.Asp1710Glu		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.D1710E	ENST00000355703.3	37	c.5130	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258237	0.39896	.	.	ENSG00000197136	ENST00000355703	T	0.47528	0.84	4.11	-5.94	0.02247	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.88570	2.965	0.31379	N	0.67919	P;D	0.63046	0.786;0.992	P;D	0.67548	0.711;0.952	T	0.69091	-0.5237	10	0.59425	D	0.04	.	12.9004	0.58123	0.0:0.4905:0.0:0.5095	.	597;1710	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	E	1710	ENSP00000347931:D1710E	ENSP00000347931:D1710E	D	+	3	2	PCNXL3	65159441	0.066000	0.20996	0.142000	0.22268	0.168000	0.22595	-0.637000	0.05459	-1.323000	0.02275	-1.327000	0.01280	GAC	PCNXL3	-	pfam_Pecanex		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65402865	1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	0.991	G	G	65402865	C	G	65402865	3	3	96	1	0	0	0	0	1	0	0	0	11617	535	19	2	5252	2	PCNXL3	11	65402865	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	1285978	65402865	69603651	66	13666										
PCNXL3	399909	genome.wustl.edu	37	chr11	65403090	65403090	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	accccgagcgtggcagcatcCagaacgccaagcaggcgctt	12	15	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65403090C>T	ENST00000355703.3	+	32	5814	c.5275C>T	c.(5275-5277)Cag>Tag	p.Q1759*	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1759						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCAGCATCCAGAACGCCAA	0.662																																																	0													25	31	29					11																	65403090		2169	4251	6420	SO:0001587	stop_gained	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5275C>T	11.37:g.65403090C>T	ENSP00000347931:p.Gln1759*		Q6MZN8	Nonsense_Mutation	SNP	pfam_Pecanex	p.Q1759*	ENST00000355703.3	37	c.5275	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	48	14.716371	0.99807	.	.	ENSG00000197136	ENST00000355703	.	.	.	4.11	4.11	0.48088	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8973	0.63781	0.0:1.0:0.0:0.0	.	.	.	.	X	1759	.	ENSP00000347931:Q1759X	Q	+	1	0	PCNXL3	65159666	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.181000	0.77682	2.142000	0.66516	0.462000	0.41574	CAG	PCNXL3	-	pfam_Pecanex		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65403090	1	no_errors	ENST00000355703	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	65403090	C	T	65403090	4	4	96	1	0	0	0	0	0	1	0	0	11617	595	21	4	5401	4	PCNXL3	11	65403090	Nonsense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	225	65403090	69603426	67	13667										
RHOD	29984	genome.wustl.edu	37	chr11	66838947	66838947	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtgggcgcggtggcctacctCgagtgctcggctcggctcca	16	14	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:66838947C>T	ENST00000308831.2	+	5	592	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RHOD_ENST00000532559.1_Silent_p.L103L	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	169					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TGGCCTACCTCGAGTGCTCGG	0.687																																																	0													35	33	34					11																	66838947		2199	4291	6490	SO:0001819	synonymous_variant	29984			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.507C>T	11.37:g.66838947C>T				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L169	ENST00000308831.2	37	c.507	CCDS8155.1	11																																																																																			RHOD	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.687	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1	C	NM_014578		66838947	1	no_errors	ENST00000308831	ensembl	human	known	70_37	silent	SNP	0.759	T	T	66838947	C	T	66838947	2	4	96	1	0	0	0	0	0	0	0	1	13367	871	31	1		1	RHOD	11	66838947	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	1435857	66838947	68167569	68	13668										
FAT3	120114	genome.wustl.edu	37	chr11	92573854	92573854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aggaggagtttgtgttggacCctcatgggatcttgcggtcg	16	7	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:92573854C>T	ENST00000298047.6	+	17	10512	c.10495C>T	c.(10495-10497)Cct>Tct	p.P3499S	FAT3_ENST00000525166.1_Missense_Mutation_p.P3349S|FAT3_ENST00000409404.2_Missense_Mutation_p.P3499S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3499	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGTTGGACCCTCATGGGAT	0.522										TCGA Ovarian(4;0.039)																																							0													113	116	115					11																	92573854		1989	4159	6148	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10495C>T	11.37:g.92573854C>T	ENSP00000298047:p.Pro3499Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P3499S	ENST00000298047.6	37	c.10495		11	.	.	.	.	.	.	.	.	.	.	C	1.962	-0.438731	0.04636	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53423	0.62;0.62;0.62	5.35	-2.48	0.06423	.	.	.	.	.	T	0.21427	0.0516	N	0.11651	0.15	0.25218	N	0.989928	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	9	0.08179	T	0.78	.	7.9998	0.30291	0.0:0.5025:0.1018:0.3956	.	3499	Q8TDW7-3	.	S	3499;3499;3349	ENSP00000298047:P3499S;ENSP00000387040:P3499S;ENSP00000432586:P3349S	ENSP00000298047:P3499S	P	+	1	0	FAT3	92213502	0.008000	0.16893	0.090000	0.20809	0.166000	0.22503	0.986000	0.29590	-0.890000	0.03945	-1.945000	0.00491	CCT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92573854	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	0.020	T	T	92573854	C	T	92573854	3	4	96	1	0	0	0	0	1	0	0	0	5709	623	22	4	10561	4	FAT3	11	92573854	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	25734907	92573854	42432662	69	13669										
CLEC2B	9976	genome.wustl.edu	37	chr12	10007077	10007077	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	actgcatttataccgcctaaGaaaattctttagagacaaaa	5	8	1	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:10007077G>A	ENST00000228438.2	-	4	1177	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CLEC2B_ENST00000538152.1_Missense_Mutation_p.L13F	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	82	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						TACCGCCTAAGAAAATTCTTT	0.378																																																	0													87	86	86					12																	10007077		2203	4299	6502	SO:0001583	missense	9976			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"C-type lectin domain containing"	2053	protein-coding gene	gene with protein product		603242	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.244C>T	12.37:g.10007077G>A	ENSP00000228438:p.Leu82Phe		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L82F	ENST00000228438.2	37	c.244	CCDS8605.1	12	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065484	0.36470	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	T;T	0.24908	1.83;1.83	2.95	1.09	0.20402	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38217	N	0.001768	T	0.44201	0.1282	M	0.79614	2.46	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17899	-1.0354	10	0.87932	D	0	.	5.1145	0.14827	0.283:0.0:0.717:0.0	.	82	Q92478	CLC2B_HUMAN	F	82;13	ENSP00000228438:L82F;ENSP00000437946:L13F	ENSP00000228438:L82F	L	-	1	0	CLEC2B	9898344	0.668000	0.27493	0.082000	0.20525	0.035000	0.12851	0.613000	0.24299	0.309000	0.22966	0.655000	0.94253	CTT	CLEC2B	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.378	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2B	HGNC	protein_coding	OTTHUMT00000399881.1	G	NM_005127		10007077	-1	no_errors	ENST00000228438	ensembl	human	known	70_37	missense	SNP	0.101	A	A	10007077	G	A	10007077	3	1	96	1	0	0	0	0	1	0	0	0	3512	942	33	1	213	1	CLEC2B	12	10007077	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09		10007077	123844818	70	13670										
DNM1L	10059	genome.wustl.edu	37	chr12	32866193	32866193	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gagcttcaaatcagagagctCattcttcggttcatcagtaa	8	9	6	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:32866193C>T	ENST00000549701.1	+	6	581	c.507C>T	c.(505-507)ctC>ctT	p.L169L	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000381000.4_Silent_p.L182L|DNM1L_ENST00000358214.5_Silent_p.L182L|DNM1L_ENST00000547312.1_Silent_p.L169L|DNM1L_ENST00000553257.1_Silent_p.L182L|DNM1L_ENST00000452533.2_Silent_p.L169L|DNM1L_ENST00000266481.6_Silent_p.L169L|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	169	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGAGAGCTCATTCTTCGGT	0.393																																																	0													118	115	116					12																	32866193		2203	4300	6503	SO:0001819	synonymous_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.507C>T	12.37:g.32866193C>T			A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.L182	ENST00000549701.1	37	c.546	CCDS8729.1	12																																																																																			DNM1L	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase		0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	C	NM_012062		32866193	1	no_errors	ENST00000553257	ensembl	human	known	70_37	silent	SNP	0.993	T	T	32866193	C	T	32866193	2	4	96	1	0	0	0	0	0	0	0	1	4681	813	29	1		1	DNM1L	12	32866193	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	22859116	32866193	100985702	71	13671										
NELL2	4753	genome.wustl.edu	37	chr12	44913800	44913800	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gagtttaccttgcactggcaGagagtacactcagtgccatg	11	10	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:44913800G>A	ENST00000429094.2	-	19	2892	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	NELL2_ENST00000333837.4_Silent_p.L819L|NELL2_ENST00000437801.2_Silent_p.L846L|NELL2_ENST00000551601.1_Silent_p.L748L|NELL2_ENST00000452445.2_Silent_p.L796L|NELL2_ENST00000395487.2_Silent_p.L795L|NELL2_ENST00000549027.1_Silent_p.L795L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	796						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGCACTGGCAGAGAGTACACT	0.468																																																	0													86	78	80					12																	44913800		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2388C>T	12.37:g.44913800G>A			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.L846	ENST00000429094.2	37	c.2538	CCDS8746.1	12																																																																																			NELL2	-	NULL		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	G	NM_006159		44913800	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44913800	G	A	44913800	2	1	96	1	0	0	0	0	0	0	0	1	10358	929	33	1		1	NELL2	12	44913800	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	12047607	44913800	88938095	72	13672										
CCDC65	85478	genome.wustl.edu	37	chr12	49312138	49312138	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agaaagttccaggatgtactCaagaattacactgatgccac	8	9	1	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:49312138C>T	ENST00000320516.4	+	5	878	c.690C>T	c.(688-690)ctC>ctT	p.L230L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L230L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	230										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGGATGTACTCAAGAATTACA	0.438																																																	0													124	123	123					12																	49312138		2203	4300	6503	SO:0001819	synonymous_variant	85478				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.690C>T	12.37:g.49312138C>T			A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	NULL	p.L230	ENST00000320516.4	37	c.690	CCDS8772.1	12																																																																																			CCDC65	-	NULL		0.438	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC65	HGNC	protein_coding	OTTHUMT00000408922.1	C	NM_033124		49312138	1	no_errors	ENST00000266984	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49312138	C	T	49312138	2	4	96	1	0	0	0	0	0	0	0	1	2842	813	29	1		1	CCDC65	12	49312138	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	4398338	49312138	84539757	73	13673										
TROAP	10024	genome.wustl.edu	37	chr12	49725173	49725173	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	accctgtggctacattactcGaatggcaggatgccctggtg	12	11	0	0	rs561170792		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:49725173G>C	ENST00000257909.3	+	14	2351	c.2275G>C	c.(2275-2277)Gaa>Caa	p.E759Q	TROAP_ENST00000551245.1_Missense_Mutation_p.E849Q|TROAP_ENST00000547923.1_Missense_Mutation_p.E438Q	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	759					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TACATTACTCGAATGGCAGGA	0.642											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50	48	49					12																	49725173		2203	4300	6503	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2275G>C	12.37:g.49725173G>C	ENSP00000257909:p.Glu759Gln	964	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.E759Q	ENST00000257909.3	37	c.2275	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932997	0.73442	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.93	5.04	0.67666	.	0.201112	0.34245	N	0.004128	T	0.58821	0.2149	L	0.47190	1.495	0.30835	N	0.736282	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.67382	0.951;0.934;0.929	T	0.63954	-0.6520	9	0.87932	D	0	-4.9004	11.1817	0.48631	0.0843:0.0:0.9157:0.0	.	849;438;759	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	Q	849;759;438	.	ENSP00000257909:E759Q	E	+	1	0	TROAP	48011440	0.999000	0.42202	0.847000	0.33407	0.985000	0.73830	3.780000	0.55386	1.522000	0.49001	0.561000	0.74099	GAA	TROAP	-	NULL		0.642	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	G	NM_005480		49725173	1	no_errors	ENST00000257909	ensembl	human	known	70_37	missense	SNP	0.948	C	C	49725173	G	C	49725173	3	2	96	1	0	0	0	0	1	0	0	0	16606	1059	37	1	2427	1	TROAP	12	49725173	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	413035	49725173	84126722	74	13674										
OR6C2	341416	genome.wustl.edu	37	chr12	55846307	55846307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtcaaatattctttgttattCtctttggagcaacagaattt	6	6	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:55846307C>G	ENST00000322678.1	+	1	310	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTTTGTTATTCTCTTTGGAGC	0.398																																																	0													137	135	136					12																	55846307		2203	4299	6502	SO:0001583	missense	341416			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.310C>G	12.37:g.55846307C>G	ENSP00000323606:p.Leu104Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L104V	ENST00000322678.1	37	c.310	CCDS31824.1	12	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956209	0.18507	.	.	ENSG00000179695	ENST00000322678	T	0.01126	5.3	5.42	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	0.406948	0.20315	N	0.094750	T	0.00967	0.0032	L	0.31845	0.965	0.09310	N	1	B	0.12630	0.006	B	0.18561	0.022	T	0.45673	-0.9245	10	0.51188	T	0.08	.	4.0063	0.09603	0.2566:0.3291:0.0:0.4143	.	104	Q9NZP2	OR6C2_HUMAN	V	104	ENSP00000323606:L104V	ENSP00000323606:L104V	L	+	1	0	OR6C2	54132574	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.727000	0.01860	-0.105000	0.12132	-0.208000	0.12717	CTC	OR6C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.398	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	HGNC	protein_coding	OTTHUMT00000406676.1	C	NM_054105		55846307	1	no_errors	ENST00000322678	ensembl	human	known	70_37	missense	SNP	0.000	G	G	55846307	C	G	55846307	3	3	96	1	0	0	0	0	1	0	0	0	11215	913	32	1	312	1	OR6C2	12	55846307	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	6121134	55846307	78005588	75	13675										
MTUS2	23281	genome.wustl.edu	37	chr13	30054388	30054388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tgggctggcagcagcaggccGagctccaggagctggaggag	19	10	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr13:30054388G>A	ENST00000380808.2	+	3	439	c.223G>A	c.(223-225)Gag>Aag	p.E75K	MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Missense_Mutation_p.E1106K|MTUS2_ENST00000542829.1_5'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1096						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAGCAGGCCGAGCTCCAGGA	0.617																																																	0													6	11	10					13																	30054388		1911	4064	5975	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.223G>A	13.37:g.30054388G>A	ENSP00000370186:p.Glu75Lys		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E1106K	ENST00000380808.2	37	c.3316	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875926	0.91664	.	.	ENSG00000132938	ENST00000431530;ENST00000380808	T;T	0.20332	2.45;2.08	5.44	4.59	0.56863	.	0.090843	0.85682	D	0.000000	T	0.34193	0.0889	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.932;0.99	T	0.04140	-1.0974	9	.	.	.	.	14.8857	0.70567	0.0:0.1563:0.8436:0.0	.	75;1096	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	K	1106;75	ENSP00000392057:E1106K;ENSP00000370186:E75K	.	E	+	1	0	MTUS2	28952388	1.000000	0.71417	0.911000	0.35937	0.985000	0.73830	5.633000	0.67825	1.514000	0.48869	-0.219000	0.12488	GAG	MTUS2	-	NULL		0.617	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30054388	1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.993	A	A	30054388	G	A	30054388	3	1	96	1	0	0	0	0	1	0	0	0	9989	1059	37	1	3404	1	MTUS2	13	30054388	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09		30054388	85115490	76	13676										
WBP4	11193	genome.wustl.edu	37	chr13	41639317	41639317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tagattaaacagaaaagcctGgataaggcaaaggaagaaga	11	4	0	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr13:41639317G>A	ENST00000379487.3	+	4	556	c.156G>A	c.(154-156)ctG>ctA	p.L52L	WBP4_ENST00000542082.1_Silent_p.L31L	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	52					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AGAAAAGCCTGGATAAGGCAA	0.368																																																	0													73	79	77					13																	41639317		2203	4300	6503	SO:0001819	synonymous_variant	11193			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.156G>A	13.37:g.41639317G>A			B7Z4M2|Q32P29	Silent	SNP	pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin	p.L52	ENST00000379487.3	37	c.156	CCDS9375.1	13																																																																																			WBP4	-	NULL		0.368	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	G	NM_007187		41639317	1	no_errors	ENST00000379487	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41639317	G	A	41639317	2	1	96	1	0	0	0	0	0	0	0	1	17292	1335	47	4		4	WBP4	13	41639317	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	11584929	41639317	73530561	77	13677										
EDNRB	1910	genome.wustl.edu	37	chr13	78475207	78475207	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tcttacctgctttaggtgatCatttaaagcaatctgcatgc	7	9	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr13:78475207C>G	ENST00000334286.5	-	4	1173	c.937G>C	c.(937-939)Gat>Cat	p.D313H	EDNRB_ENST00000377211.4_Missense_Mutation_p.D403H|EDNRB_ENST00000446573.1_Missense_Mutation_p.D313H	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	313					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTTAGGTGATCATTTAAAGCA	0.303																																																	0													90	95	93					13																	78475207		2203	4300	6503	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.937G>C	13.37:g.78475207C>G	ENSP00000335311:p.Asp313His		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.D313H	ENST00000334286.5	37	c.937	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011915	0.75046	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	D;D;D	0.85861	-2.04;-2.04;-2.04	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	M	0.66560	2.04	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.74348	0.981;0.916;0.983	D	0.91382	0.5128	10	0.72032	D	0.01	-4.3133	14.6323	0.68666	0.1455:0.8545:0.0:0.0	.	313;403;313	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	H	403;313;313	ENSP00000366416:D403H;ENSP00000403401:D313H;ENSP00000335311:D313H	ENSP00000335311:D313H	D	-	1	0	EDNRB	77373208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.761000	0.68801	2.699000	0.92147	0.655000	0.94253	GAT	EDNRB	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_Bombsn_rcpt		0.303	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1	C			78475207	-1	no_errors	ENST00000334286	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78475207	C	G	78475207	3	3	96	1	0	0	0	0	1	0	0	0	4930	826	29	1	528	1	EDNRB	13	78475207	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	36835890	78475207	36694671	78	13678										
TXNDC16	57544	genome.wustl.edu	37	chr14	52957624	52957624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccattctgcagttcttctatCagcttcataagtagcctgtt	6	11	5	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:52957624C>A	ENST00000281741.4	-	10	1227	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	286					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GTTCTTCTATCAGCTTCATAA	0.403																																																	0													106	108	107					14																	52957624		2203	4300	6503	SO:0001583	missense	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.856G>T	14.37:g.52957624C>A	ENSP00000281741:p.Asp286Tyr		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.D286Y	ENST00000281741.4	37	c.856	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451218	0.63290	.	.	ENSG00000087301	ENST00000281741	T	0.22336	1.96	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.69823	2.125	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.43507	-0.9387	10	0.72032	D	0.01	.	12.3231	0.54995	0.0:0.9173:0.0:0.0827	.	281;286	B7ZME4;Q9P2K2	.;TXD16_HUMAN	Y	286	ENSP00000281741:D286Y	ENSP00000281741:D286Y	D	-	1	0	TXNDC16	52027374	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.958000	0.63660	1.436000	0.47453	-0.136000	0.14681	GAT	TXNDC16	-	NULL		0.403	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	C	XM_051699		52957624	-1	no_errors	ENST00000281741	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52957624	C	A	52957624	3	1	96	1	0	0	0	0	1	0	0	0	16826	826	29	3	1669	3	TXNDC16	14	52957624	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		52957624	54391916	79	13679										
CGRRF1	10668	genome.wustl.edu	37	chr14	54976708	54976708	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tgtttctggtaacgctttatGaatactcgccgcttttctac	7	10	2	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:54976708G>A	ENST00000216420.7	+	1	163	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	11					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AACGCTTTATGAATACTCGCC	0.612											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135	118	124					14																	54976708		2203	4300	6503	SO:0001583	missense	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.31G>A	14.37:g.54976708G>A	ENSP00000216420:p.Glu11Lys	1004	Q96BX2	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E11K	ENST00000216420.7	37	c.31	CCDS9719.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551402	0.86127	.	.	ENSG00000100532	ENST00000216420;ENST00000557317	T;T	0.33865	1.39;1.64	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	L	0.59436	1.845	0.53005	D	0.99996	D;D	0.63880	0.98;0.993	D;D	0.72625	0.956;0.978	T	0.57225	-0.7848	10	0.87932	D	0	-18.9001	16.1726	0.81828	0.0:0.0:1.0:0.0	.	11;11	B2RCX4;Q99675	.;CGRF1_HUMAN	K	11	ENSP00000216420:E11K;ENSP00000450430:E11K	ENSP00000216420:E11K	E	+	1	0	CGRRF1	54046458	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	6.351000	0.73022	2.804000	0.96469	0.650000	0.86243	GAA	CGRRF1	-	NULL		0.612	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	HGNC	protein_coding	OTTHUMT00000276905.2	G	NM_006568		54976708	1	no_errors	ENST00000216420	ensembl	human	known	70_37	missense	SNP	0.998	A	A	54976708	G	A	54976708	3	1	96	1	0	0	0	0	1	0	0	0	3311	1291	45	1	33	1	CGRRF1	14	54976708	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	2019084	54976708	52372832	80	13680										
SERPINA3	12	genome.wustl.edu	37	chr14	95081110	95081110	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gttcaacctcacggagacttCtgaggcagaaattcaccaga	9	11	4	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:95081110C>T	ENST00000467132.1	+	2	1480	c.332C>T	c.(331-333)tCt>tTt	p.S111F	SERPINA3_ENST00000393078.3_Missense_Mutation_p.S111F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S111F|SERPINA3_ENST00000482740.1_5'Flank|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	111					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACGGAGACTTCTGAGGCAGAA	0.537																																																	0													63	64	64					14																	95081110		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.332C>T	14.37:g.95081110C>T	ENSP00000450540:p.Ser111Phe		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S136F	ENST00000467132.1	37	c.407	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128152	0.37533	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.03	4.12	0.48240	Serpin domain (3);	0.916289	0.09304	N	0.820464	D	0.91815	0.7410	M	0.62209	1.925	0.09310	N	1	D;D	0.61080	0.989;0.962	P;P	0.57679	0.825;0.675	T	0.81660	-0.0832	10	0.72032	D	0.01	.	10.2579	0.43408	0.1613:0.7008:0.1378:0.0	.	111;136	P01011;G3V5I3	AACT_HUMAN;.	F	136;111;111;111;111	ENSP00000452367:S136F;ENSP00000376793:S111F;ENSP00000376795:S111F;ENSP00000450540:S111F	ENSP00000376793:S111F	S	+	2	0	SERPINA3	94150863	0.000000	0.05858	0.002000	0.10522	0.309000	0.27889	0.644000	0.24766	1.188000	0.43014	0.561000	0.74099	TCT	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.537	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	C	NM_001085		95081110	1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.001	T	T	95081110	C	T	95081110	3	4	96	1	0	0	0	0	1	0	0	0	14120	913	32	1	334	1	SERPINA3	14	95081110	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	40104402	95081110	12268430	81	13681										
DISP2	85455	genome.wustl.edu	37	chr15	40659612	40659612	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gactaccaggtgccttccctCaagtacagcctgctcttcct	7	16	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:40659612C>G	ENST00000267889.3	+	8	1386	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	433					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCCTTCCCTCAAGTACAGCC	0.582																																																	0													241	263	256					15																	40659612		2203	4300	6503	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1299C>G	15.37:g.40659612C>G			Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.L433	ENST00000267889.3	37	c.1299	CCDS10056.1	15																																																																																			DISP2	-	NULL		0.582	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40659612	1	no_errors	ENST00000267889	ensembl	human	known	70_37	silent	SNP	0.998	G	G	40659612	C	G	40659612	2	3	96	1	0	0	0	0	0	0	0	1	4550	813	29	1		1	DISP2	15	40659612	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		40659612	61871780	82	13682										
DISP2	85455	genome.wustl.edu	37	chr15	40660758	40660758	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cagcgctggctgctggcactCtgtcaccgggcccggaatca	13	15	3	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:40660758C>G	ENST00000267889.3	+	8	2532	c.2445C>G	c.(2443-2445)ctC>ctG	p.L815L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	815					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCTGGCACTCTGTCACCGGG	0.667																																																	0													35	41	39					15																	40660758		2201	4296	6497	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2445C>G	15.37:g.40660758C>G			Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.L815	ENST00000267889.3	37	c.2445	CCDS10056.1	15																																																																																			DISP2	-	NULL		0.667	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40660758	1	no_errors	ENST00000267889	ensembl	human	known	70_37	silent	SNP	0.481	G	G	40660758	C	G	40660758	2	3	96	1	0	0	0	0	0	0	0	1	4550	900	32	1		1	DISP2	15	40660758	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	1146	40660758	61870634	83	13683										
CEP152	22995	genome.wustl.edu	37	chr15	49074351	49074351	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctcacttgcaaagccttgttCatgtttgcactcatagcatg	7	11	3	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:49074351C>T	ENST00000380950.2	-	11	1585	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.M373I|CEP152_ENST00000399334.3_Missense_Mutation_p.M466I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	466					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAGCCTTGTTCATGTTTGCAC	0.468																																																	0													92	90	91					15																	49074351		1991	4188	6179	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1398G>A	15.37:g.49074351C>T	ENSP00000370337:p.Met466Ile		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.M466I	ENST00000380950.2	37	c.1398	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343440	0.61073	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.79141	-1.24;-1.24;-1.24	5.82	5.82	0.92795	.	0.167525	0.64402	D	0.000005	T	0.82231	0.4992	L	0.60455	1.87	0.44562	D	0.997521	B;D;P	0.55800	0.228;0.973;0.465	B;P;B	0.53593	0.058;0.73;0.052	T	0.77289	-0.2643	10	0.19147	T	0.46	-5.2143	19.6984	0.96043	0.0:1.0:0.0:0.0	.	373;466;466	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	466;373;466;466	ENSP00000370337:M466I;ENSP00000321000:M373I;ENSP00000382271:M466I	ENSP00000321000:M373I	M	-	3	0	CEP152	46861643	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.152000	0.71812	2.739000	0.93911	0.655000	0.94253	ATG	CEP152	-	NULL		0.468	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	C	NM_014985		49074351	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49074351	C	T	49074351	3	4	96	1	0	0	0	0	1	0	0	0	3253	826	29	1	3630	1	CEP152	15	49074351	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	8413593	49074351	53457041	84	13684										
ZWILCH	55055	genome.wustl.edu	37	chr15	66821259	66821259	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tcaaagttcggagtgatcttGattttgctgagcaactgtgg	12	6	2	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:66821259G>A	ENST00000307897.5	+	11	1419	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	ZWILCH_ENST00000565627.1_Missense_Mutation_p.D233N|ZWILCH_ENST00000535141.2_Missense_Mutation_p.D233N|ZWILCH_ENST00000446801.2_Missense_Mutation_p.D233N	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	347					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GAGTGATCTTGATTTTGCTGA	0.393																																																	0													125	113	117					15																	66821259		2201	4299	6500	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1039G>A	15.37:g.66821259G>A	ENSP00000311429:p.Asp347Asn		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.D347N	ENST00000307897.5	37	c.1039	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.293611	0.95546	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.77229	-1.08;-1.08;-1.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89305	0.3629	10	0.87932	D	0	-28.9879	19.3009	0.94144	0.0:0.0:1.0:0.0	.	347	Q9H900	ZWILC_HUMAN	N	347;233;233	ENSP00000311429:D347N;ENSP00000402217:D233N;ENSP00000437749:D233N	ENSP00000311429:D347N	D	+	1	0	ZWILCH	64608313	1.000000	0.71417	0.849000	0.33467	0.799000	0.45148	7.688000	0.84153	2.634000	0.89283	0.456000	0.33151	GAT	ZWILCH	-	pfam_RZZ-complex_zwilch		0.393	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	G	NM_017975		66821259	1	no_errors	ENST00000307897	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66821259	G	A	66821259	3	1	96	1	0	0	0	0	1	0	0	0	18278	1290	45	1	1081	1	ZWILCH	15	66821259	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	17746908	66821259	35710133	85	13685										
CSPG4	1464	genome.wustl.edu	37	chr15	75983124	75983124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tctgctggagtctgcagcctCagctcctcctggcccagaac	10	16	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:75983124C>T	ENST00000308508.5	-	3	374	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	94	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTGCAGCCTCAGCTCCTCCT	0.552																																																	0													65	68	67					15																	75983124		2197	4290	6487	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.282G>A	15.37:g.75983124C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.L94	ENST00000308508.5	37	c.282	CCDS10284.1	15																																																																																			CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.552	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	C	NM_001897		75983124	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	silent	SNP	0.365	T	T	75983124	C	T	75983124	2	4	96	1	0	0	0	0	0	0	0	1	3965	813	29	1		1	CSPG4	15	75983124	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	9161865	75983124	26548268	86	13686										
TARSL2	123283	genome.wustl.edu	37	chr15	102201989	102201989	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aaaatggctcgatgaatgatCacaggtctcttcttatcatc	7	9	4	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:102201989C>T	ENST00000335968.3	-	16	2214	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	666					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATGAATGATCACAGGTCTCT	0.323																																																	0													60	59	60					15																	102201989		2203	4299	6502	SO:0001819	synonymous_variant	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1998G>A	15.37:g.102201989C>T			B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.V666	ENST00000335968.3	37	c.1998	CCDS10394.1	15																																																																																			TARSL2	-	pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa		0.323	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102201989	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	silent	SNP	1.000	T	T	102201989	C	T	102201989	2	4	96	1	0	0	0	0	0	0	0	1	15591	813	29	1		1	TARSL2	15	102201989	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	26218865	102201989	329403	87	13687										
TSC2	7249	genome.wustl.edu	37	chr16	2108835	2108835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gcccaccggctctattctctCaggaactcgccgacatctgt	8	16	4	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:2108835C>T	ENST00000219476.3	+	10	1566	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TSC2_ENST00000350773.4_Silent_p.L312L|TSC2_ENST00000353929.4_Silent_p.L312L|TSC2_ENST00000401874.2_Silent_p.L312L|TSC2_ENST00000568454.1_Silent_p.L323L|TSC2_ENST00000382538.6_Silent_p.L263L|TSC2_ENST00000439673.2_Silent_p.L275L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	312	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTATTCTCTCAGGAACTCGC	0.582			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													64	54	58					16																	2108835		2196	4298	6494	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.936C>T	16.37:g.2108835C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L312	ENST00000219476.3	37	c.936	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.582	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2108835	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.999	T	T	2108835	C	T	2108835	2	4	96	1	0	0	0	0	0	0	0	1	16637	813	29	1		1	TSC2	16	2108835	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		2108835	88245918	88	13688										
NAT15	79903	genome.wustl.edu	37	chr16	3533506	3533506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	acttcaagcagcaccactatCtcccctattactactccatt	2	16	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:3533506C>G	ENST00000407558.4	+	6	784	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	NAA60_ENST00000572942.1_Intron|NAA60_ENST00000575076.1_Missense_Mutation_p.L161V|NAA60_ENST00000572584.1_Missense_Mutation_p.L161V|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000424546.2_Missense_Mutation_p.L168V|NAA60_ENST00000608722.1_Missense_Mutation_p.L161V|NAA60_ENST00000610180.1_Missense_Mutation_p.L161V|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000360862.5_Missense_Mutation_p.L96V|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000608993.1_Missense_Mutation_p.L96V|NAA60_ENST00000414063.2_Missense_Mutation_p.L161V|NAA60_ENST00000573580.1_Missense_Mutation_p.L96V|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570819.1_Intron			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	161	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GCACCACTATCTCCCCTATTA	0.488																																																	0													142	151	148					16																	3533506		2039	4183	6222	SO:0001583	missense	79903				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.481C>G	16.37:g.3533506C>G	ENSP00000385903:p.Leu161Val		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L161V	ENST00000407558.4	37	c.481	CCDS45396.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156996	0.78114	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.55052	0.54;0.67;0.67;0.93	5.47	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.63169	1.94	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.66979	0.948;0.908	T	0.66630	-0.5875	10	0.39692	T	0.17	-23.1009	13.5107	0.61511	0.0:0.9245:0.0:0.0755	.	168;161	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	V	168;161;161;96	ENSP00000401237:L168V;ENSP00000385903:L161V;ENSP00000393224:L161V;ENSP00000354108:L96V	ENSP00000354108:L96V	L	+	1	0	NAA60	3473507	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	4.419000	0.59835	1.448000	0.47680	0.561000	0.74099	CTC	NAA60	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.488	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2	C	NM_024845		3533506	1	no_errors	ENST00000407558	ensembl	human	known	70_37	missense	SNP	0.999	G	G	3533506	C	G	3533506	3	3	96	1	0	0	0	0	1	0	0	0	10199	913	32	1	495	1	NAT15	16	3533506	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	1424671	3533506	86821247	89	13689										
IL4R	3566	genome.wustl.edu	37	chr16	27374111	27374111	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ccagcccgacccagagtccaGacaacctgacttgcacagag	9	16	0	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:27374111G>T	ENST00000395762.2	+	11	1697	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y	IL4R_ENST00000170630.2_Missense_Mutation_p.D480Y|IL4R_ENST00000380922.3_Missense_Mutation_p.D465Y|IL4R_ENST00000543915.2_Missense_Mutation_p.D480Y	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	480	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCAGAGTCCAGACAACCTGAC	0.632																																																	0													82	84	83					16																	27374111		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1438G>T	16.37:g.27374111G>T	ENSP00000379111:p.Asp480Tyr		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D480Y	ENST00000395762.2	37	c.1438	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953320	0.34471	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10005	2.93;2.93;2.92;2.93	4.03	-4.88	0.03113	.	7.429810	0.00424	N	0.000067	T	0.07369	0.0186	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51653	0.947;0.913;0.913	P;B;B	0.44561	0.453;0.254;0.254	T	0.19844	-1.0293	10	0.56958	D	0.05	-4.1181	0.3886	0.00406	0.278:0.1417:0.2952:0.2851	.	465;480;480	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	Y	480;480;465;480	ENSP00000379111:D480Y;ENSP00000441667:D480Y;ENSP00000370309:D465Y;ENSP00000170630:D480Y	ENSP00000170630:D480Y	D	+	1	0	IL4R	27281612	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.217000	0.02979	-0.917000	0.03813	-0.500000	0.04577	GAC	IL4R	-	NULL		0.632	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	G			27374111	1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.000	T	T	27374111	G	T	27374111	3	4	96	1	0	0	0	0	1	0	0	0	7718	942	33	3	1490	3	IL4R	16	27374111	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	23840605	27374111	62980642	90	13690										
ZNF629	23361	genome.wustl.edu	37	chr16	30794051	30794051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tccccctctcatggatcaccCggtgctgctccagctcgtgg	10	17	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:30794051C>T	ENST00000262525.4	-	3	1805	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			ATGGATCACCCGGTGCTGCTC	0.682																																																	0													21	23	23					16																	30794051		2103	4249	6352	SO:0001583	missense	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1598G>A	16.37:g.30794051C>T	ENSP00000262525:p.Arg533Gln		Q15938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R533Q	ENST00000262525.4	37	c.1598	CCDS45463.1	16	.	.	.	.	.	.	.	.	.	.	C	1.703	-0.501002	0.04261	.	.	ENSG00000102870	ENST00000262525	T	0.08896	3.04	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000807	T	0.02342	0.0072	N	0.04203	-0.255	0.30785	N	0.741599	P	0.39665	0.682	B	0.24006	0.05	T	0.23190	-1.0195	10	0.02654	T	1	-36.6172	8.9672	0.35883	0.0:0.8427:0.0:0.1573	.	533	Q9UEG4	ZN629_HUMAN	Q	533	ENSP00000262525:R533Q	ENSP00000262525:R533Q	R	-	2	0	ZNF629	30701552	0.605000	0.26941	1.000000	0.80357	0.997000	0.91878	1.068000	0.30629	2.735000	0.93741	0.561000	0.74099	CGG	ZNF629	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	C	NM_015309		30794051	-1	no_errors	ENST00000262525	ensembl	human	known	70_37	missense	SNP	0.998	T	T	30794051	C	T	30794051	3	4	96	1	0	0	0	0	1	0	0	0	18083	652	23	2	1015	2	ZNF629	16	30794051	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	3419940	30794051	59560702	91	13691										
GUCY2D	3000	genome.wustl.edu	37	chr17	7919320	7919320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gggctaccaggtggagctgcGaggccgcacggagctgaagg	19	10	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:7919320G>C	ENST00000254854.4	+	17	3269	c.3119G>C	c.(3118-3120)cGa>cCa	p.R1040P		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1040					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GTGGAGCTGCGAGGCCGCACG	0.697																																																	0													29	26	27					17																	7919320		2200	4295	6495	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3119G>C	17.37:g.7919320G>C	ENSP00000254854:p.Arg1040Pro		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.R1040P	ENST00000254854.4	37	c.3119	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904796	0.72868	.	.	ENSG00000132518	ENST00000254854	D	0.85861	-2.04	4.22	4.22	0.49857	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.39985	N	0.001215	D	0.94145	0.8122	H	0.95679	3.705	0.45567	D	0.99851	D	0.65815	0.995	D	0.66602	0.945	D	0.95869	0.8889	10	0.87932	D	0	.	15.8648	0.79057	0.0:0.0:1.0:0.0	.	1040	Q02846	GUC2D_HUMAN	P	1040	ENSP00000254854:R1040P	ENSP00000254854:R1040P	R	+	2	0	GUCY2D	7860045	1.000000	0.71417	0.972000	0.41901	0.628000	0.37860	9.533000	0.98059	2.346000	0.79739	0.313000	0.20887	CGA	GUCY2D	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.697	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	G			7919320	1	no_errors	ENST00000254854	ensembl	human	known	70_37	missense	SNP	0.945	C	C	7919320	G	C	7919320	3	2	96	1	0	0	0	0	1	0	0	0	6917	1058	37	1	3181	1	GUCY2D	17	7919320	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09		7919320	73275890	92	13692										
PER1	5187	genome.wustl.edu	37	chr17	8053162	8053162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ggagcaaggctcgccctcctCcaggctccactgctggtagt	12	15	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:8053162C>G	ENST00000317276.4	-	5	799	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	PER1_ENST00000354903.5_Missense_Mutation_p.E172Q|PER1_ENST00000581082.1_Missense_Mutation_p.E188Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	188					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCGCCCTCCTCCAGGCTCCAC	0.607			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													195	190	192					17																	8053162		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.562G>C	17.37:g.8053162C>G	ENSP00000314420:p.Glu188Gln		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.E188Q	ENST00000317276.4	37	c.562	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374545	0.82573	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.38240	2.56;1.15	5.55	5.55	0.83447	.	0.050200	0.85682	D	0.000000	T	0.52533	0.1740	L	0.43923	1.385	0.58432	D	0.999992	D;D;D	0.71674	0.996;0.998;0.993	P;D;D	0.70227	0.851;0.94;0.968	T	0.48127	-0.9062	10	0.49607	T	0.09	-22.4823	17.0051	0.86391	0.0:1.0:0.0:0.0	.	188;172;188	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	188;172	ENSP00000314420:E188Q;ENSP00000346979:E172Q	ENSP00000314420:E188Q	E	-	1	0	PER1	7993887	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.770000	0.47662	2.620000	0.88729	0.563000	0.77884	GAG	PER1	-	NULL		0.607	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	C			8053162	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8053162	C	G	8053162	3	3	96	1	0	0	0	0	1	0	0	0	11753	864	30	1	3386	1	PER1	17	8053162	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	133842	8053162	73142048	93	13693										
ARHGEF15	22899	genome.wustl.edu	37	chr17	8216548	8216548	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cacagccagatcttgatctgCtttctgaagatggaatccaa	8	10	3	4			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:8216548C>G	ENST00000361926.3	+	3	1020	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.L304V	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	304					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCTTGATCTGCTTTCTGAAGA	0.587																																																	0													43	44	44					17																	8216548		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.910C>G	17.37:g.8216548C>G	ENSP00000355026:p.Leu304Val		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.L304V	ENST00000361926.3	37	c.910	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969336	0.18659	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.43294	0.95;0.95	5.13	5.13	0.70059	.	1.480570	0.03990	N	0.294651	T	0.35008	0.0917	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.12656	-1.0539	10	0.29301	T	0.29	-5.2263	13.9397	0.64048	0.0:1.0:0.0:0.0	.	304	O94989	ARHGF_HUMAN	V	304	ENSP00000355026:L304V;ENSP00000412505:L304V	ENSP00000355026:L304V	L	+	1	0	ARHGEF15	8157273	0.870000	0.30015	0.013000	0.15412	0.804000	0.45430	3.638000	0.54332	2.667000	0.90743	0.561000	0.74099	CTT	ARHGEF15	-	NULL		0.587	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8216548	1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	0.012	G	G	8216548	C	G	8216548	3	3	96	1	0	0	0	0	1	0	0	0	898	797	28	4	916	4	ARHGEF15	17	8216548	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	163386	8216548	72978662	94	13694										
MYH3	4621	genome.wustl.edu	37	chr17	10558294	10558294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cgtcttggcatcaaagggctGgttctgagcctcgatcctct	11	12	4	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:10558294G>A	ENST00000583535.1	-	3	175	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q30*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	30					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAAAGGGCTGGTTCTGAGCC	0.498																																																	0													193	179	184					17																	10558294		2203	4300	6503	SO:0001587	stop_gained	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.88C>T	17.37:g.10558294G>A	ENSP00000464317:p.Gln30*		Q15492	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q30*	ENST00000583535.1	37	c.88	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.351739	0.95830	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7078	0.77598	0.0:0.0:0.8631:0.1369	.	.	.	.	X	30	.	ENSP00000226209:Q30X	Q	-	1	0	MYH3	10499019	0.005000	0.15991	1.000000	0.80357	0.978000	0.69477	0.233000	0.17911	2.794000	0.96219	0.655000	0.94253	CAG	MYH3	-	NULL		0.498	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10558294	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10558294	G	A	10558294	4	1	96	1	0	0	0	0	0	1	0	0	10059	1357	47	4	5890	4	MYH3	17	10558294	Nonsense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	2341746	10558294	70636916	95	13695										
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13503859	13503859	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cccgctcaccggtaccaggcGaggcccttgtcgtagctgcg	13	16	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:13503859G>A	ENST00000284110.1	-	1	1385	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTACCAGGCGAGGCCCTTGT	0.736																																																	0													8	9	8					17																	13503859		2113	4158	6271	SO:0001819	synonymous_variant	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.588C>T	17.37:g.13503859G>A			A8K7N2	Silent	SNP	pfam_Sulfotransferase_dom	p.L196	ENST00000284110.1	37	c.588	CCDS11165.1	17																																																																																			HS3ST3A1	-	pfam_Sulfotransferase_dom		0.736	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	G	NM_006042		13503859	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13503859	G	A	13503859	2	1	96	1	0	0	0	0	0	0	0	1	7385	1045	37	1		1	HS3ST3A1	17	13503859	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	2945565	13503859	67691351	96	13696										
GPR179	440435	genome.wustl.edu	37	chr17	36486800	36486800	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	agcctcctggctgatggcctCcgcaccaggctggccatggc	13	16	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:36486800C>G	ENST00000342292.4	-	11	2672	c.2652G>C	c.(2650-2652)cgG>cgC	p.R884R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	884					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGATGGCCTCCGCACCAGGC	0.672																																																	0													14	16	15					17																	36486800		2061	4207	6268	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2652G>C	17.37:g.36486800C>G				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.R884	ENST00000342292.4	37	c.2652	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.672	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36486800	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.779	G	G	36486800	C	G	36486800	2	3	96	1	0	0	0	0	0	0	0	1	6693	842	30	1		1	GPR179	17	36486800	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	22982941	36486800	44708410	97	13697										
ATP6V0A1	535	genome.wustl.edu	37	chr17	40652734	40652734	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctcctttttagctatttcaaGaagcccctgaatatctactt	4	11	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:40652734G>A	ENST00000343619.4	+	16	1812	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K	ATP6V0A1_ENST00000544137.1_Silent_p.K209K|ATP6V0A1_ENST00000393829.2_Silent_p.K563K|ATP6V0A1_ENST00000585525.1_Silent_p.K520K|ATP6V0A1_ENST00000264649.6_Silent_p.K570K|ATP6V0A1_ENST00000546249.1_Silent_p.K563K|ATP6V0A1_ENST00000537728.1_Silent_p.K520K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	563					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCTATTTCAAGAAGCCCCTGA	0.363																																																	0													105	103	104					17																	40652734		2203	4300	6503	SO:0001819	synonymous_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1689G>A	17.37:g.40652734G>A			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_ATPase_V0/A0_a	p.K570	ENST00000343619.4	37	c.1710	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_ATPase_V0/A0_a		0.363	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	G	NM_001130020		40652734	1	no_errors	ENST00000264649	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40652734	G	A	40652734	2	1	96	1	0	0	0	0	0	0	0	1	1169	933	33	1		1	ATP6V0A1	17	40652734	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	4165934	40652734	40542476	98	13698										
NXPH3	11248	genome.wustl.edu	37	chr17	47656341	47656341	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ggccagggaaacatctccatCagcctcgtgccccccagtaa	9	16	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:47656341C>T	ENST00000328741.5	+	2	800	c.438C>T	c.(436-438)atC>atT	p.I146I	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.I146I	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	146	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ACATCTCCATCAGCCTCGTGC	0.552																																																	0													113	93	100					17																	47656341		2203	4300	6503	SO:0001819	synonymous_variant	11248			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.438C>T	17.37:g.47656341C>T			Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.I146	ENST00000328741.5	37	c.438	CCDS11550.1	17																																																																																			NXPH3	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.552	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	HGNC	protein_coding	OTTHUMT00000365143.1	C			47656341	1	no_errors	ENST00000328741	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47656341	C	T	47656341	2	4	96	1	0	0	0	0	0	0	0	1	10816	816	29	1		1	NXPH3	17	47656341	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	7003607	47656341	33538869	99	13699										
FAM59A	64762	genome.wustl.edu	37	chr18	29867486	29867486	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tggccagagcaccgacccttCttggggctcttgcattcttc	10	14	3	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr18:29867486C>T	ENST00000269209.6	-	4	1077	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Silent_p.K358K|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	358					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										ACCGACCCTTCTTGGGGCTCT	0.552																																																	0													84	89	87					18																	29867486		2203	4300	6503	SO:0001819	synonymous_variant	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1074G>A	18.37:g.29867486C>T			Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	superfamily_SAM/pointed	p.K358	ENST00000269209.6	37	c.1074	CCDS56057.1	18																																																																																			FAM59A	-	NULL		0.552	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	C	NM_022751		29867486	-1	no_errors	ENST00000269209	ensembl	human	known	70_37	silent	SNP	0.988	T	T	29867486	C	T	29867486	2	4	96	1	0	0	0	0	0	0	0	1	5610	912	32	1		1	FAM59A	18	29867486	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		29867486	48209762	100	13700										
SYT4	6860	genome.wustl.edu	37	chr18	40850554	40850554	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gggggtgcatttcttcacatGagtcttcttcttggagattc	11	8	5	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr18:40850554G>A	ENST00000255224.3	-	4	1398	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	SYT4_ENST00000590752.1_Missense_Mutation_p.H326Y|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	344	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCTTCACATGAGTCTTCTTC	0.408																																					NSCLC(85;81 1419 2855 22820 35912)												0													102	105	104					18																	40850554		2203	4300	6503	SO:0001583	missense	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1030C>T	18.37:g.40850554G>A	ENSP00000255224:p.His344Tyr		B4DEU3|Q9P2K4	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.H344Y	ENST00000255224.3	37	c.1030	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276110	0.80580	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.69040	-0.37	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.90082	3.085	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	D	0.87595	0.2493	10	0.59425	D	0.04	.	19.5717	0.95423	0.0:0.0:1.0:0.0	.	326;344	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Y	344;149	ENSP00000255224:H344Y	ENSP00000255224:H344Y	H	-	1	0	SYT4	39104552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.644000	0.89710	0.655000	0.94253	CAT	SYT4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.408	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	G	NM_020783		40850554	-1	no_errors	ENST00000255224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40850554	G	A	40850554	3	1	96	1	0	0	0	0	1	0	0	0	15506	1290	45	1	251	1	SYT4	18	40850554	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	10983068	40850554	37226694	101	13701										
SHC2	25759	genome.wustl.edu	37	chr19	422299	422299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gcccggcggctcatccggccGtggtaccagggctcctgacg	15	16	1	1	rs375069437		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:422299G>A	ENST00000264554.6	-	11	1466	c.1467C>T	c.(1465-1467)caC>caT	p.H489H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	489	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCCGGCCGTGGTACCAGG	0.697																																																	0										0,4186		0,0,2093	12	15	14		1467	-4.4	1	19		14	1,8413		0,1,4206	no	coding-synonymous	SHC2	NM_012435.2		0,1,6299	AA,AG,GG		0.0119,0.0,0.0079		489/583	422299	1,12599	2093	4207	6300	SO:0001819	synonymous_variant	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1467C>T	19.37:g.422299G>A			O60230|Q9NPL5|Q9UCX4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.H489	ENST00000264554.6	37	c.1467	CCDS45891.1	19																																																																																			SHC2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.697	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	G			422299	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	silent	SNP	0.972	A	A	422299	G	A	422299	2	1	96	1	0	0	0	0	0	0	0	1	14301	1136	40	2		2	SHC2	19	422299	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09		422299	58706684	102	13702										
EMR2	30817	genome.wustl.edu	37	chr19	14866481	14866481	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctcacacggtgggagaaggtGaaggtaactggggagctgag	18	6	1	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:14866481G>A	ENST00000315576.3	-	13	1852	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	EMR2_ENST00000594294.1_Silent_p.F418F|EMR2_ENST00000346057.1_Silent_p.F418F|EMR2_ENST00000594076.1_Silent_p.F374F|EMR2_ENST00000353005.1_Silent_p.F325F|EMR2_ENST00000595839.1_Silent_p.F325F|EMR2_ENST00000596991.2_Silent_p.F456F|EMR2_ENST00000601345.1_Silent_p.F456F|EMR2_ENST00000392967.2_Silent_p.F456F|EMR2_ENST00000392965.3_Silent_p.F467F|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Silent_p.F374F	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	467					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGAGAAGGTGAAGGTAACTG	0.587																																																	0													186	166	173					19																	14866481		2203	4300	6503	SO:0001819	synonymous_variant	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1401C>T	19.37:g.14866481G>A			B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.F467	ENST00000315576.3	37	c.1401	CCDS32935.1	19																																																																																			EMR2	-	NULL		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	G			14866481	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	silent	SNP	0.021	A	A	14866481	G	A	14866481	2	1	96	1	0	0	0	0	0	0	0	1	5117	1281	45	1		1	EMR2	19	14866481	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	14444182	14866481	44262502	103	13703										
ZNF492	57615	genome.wustl.edu	37	chr19	22847759	22847759	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtgaagaatgtggcaaagctTttaaccagtcctcaactctt	8	9	2	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:22847759T>A	ENST00000456783.2	+	4	1532	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGGCAAAGCTTTTAACCAGTC	0.373																																																	0													21	23	23					19																	22847759		1762	3797	5559	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1288T>A	19.37:g.22847759T>A	ENSP00000413660:p.Phe430Ile		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F430I	ENST00000456783.2	37	c.1288	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	14.86	2.660361	0.47572	.	.	ENSG00000229676	ENST00000456783	T	0.46451	0.87	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67552	0.2905	H	0.94503	3.545	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.55256	-0.8169	9	0.87932	D	0	.	5.8144	0.18484	0.0:0.0:0.0:1.0	.	430	Q9P255	ZN492_HUMAN	I	430	ENSP00000413660:F430I	ENSP00000413660:F430I	F	+	1	0	ZNF492	22639599	0.948000	0.32251	0.020000	0.16555	0.020000	0.10135	3.513000	0.53414	0.231000	0.21079	0.228000	0.17796	TTT	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	T	NM_020855		22847759	1	no_errors	ENST00000456783	ensembl	human	known	70_37	missense	SNP	0.139	A	A	22847759	T	A	22847759	3	1	96	1	0	0	0	0	1	0	0	0	17973	1841	64	5	1298	5	ZNF492	19	22847759	Missense_Mutation	SNP	T	TCGA-EK-A2IP-01A-11D-A17W-09	7981278	22847759	36281224	104	13704										
ZNF568	374900	genome.wustl.edu	37	chr19	37441464	37441464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	acatcagaaaattcacactgGagagaaaccttatgaatgca	7	8	2	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:37441464G>T	ENST00000333987.7	+	7	1915	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.G406V|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G470A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCACACTGGAGAGAAACCT	0.398																																																	1	Substitution - Missense(1)	lung(1)											52	58	56					19																	37441464		2203	4300	6503	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1409G>T	19.37:g.37441464G>T	ENSP00000334685:p.Gly470Val		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G470V	ENST00000333987.7	37	c.1409	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757958	0.49468	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.23552	1.9;1.9	3.96	3.96	0.45880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.249770	0.21063	N	0.080781	T	0.49150	0.1540	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.53711	-0.8400	10	0.87932	D	0	.	13.8961	0.63773	0.0:0.0:1.0:0.0	.	470	Q3ZCX4	ZN568_HUMAN	V	470;406	ENSP00000334685:G470V;ENSP00000394514:G406V	ENSP00000334685:G470V	G	+	2	0	ZNF568	42133304	0.689000	0.27690	1.000000	0.80357	0.792000	0.44763	2.166000	0.42406	2.204000	0.70986	0.467000	0.42956	GGA	ZNF568	-	pfscan_Znf_C2H2		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	G	NM_198539		37441464	1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37441464	G	T	37441464	3	4	96	1	0	0	0	0	1	0	0	0	18029	1174	41	3	1427	3	ZNF568	19	37441464	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	14593705	37441464	21687519	105	13705										
GMFG	9535	genome.wustl.edu	37	chr19	39820225	39820225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	aacacaaagggtaggacactCggccatcgtcatgcacgtac	10	12	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:39820225C>T	ENST00000597595.1	-	5	450	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	GMFG_ENST00000595636.1_Intron|GMFG_ENST00000602185.1_Missense_Mutation_p.R32Q|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000253054.8_Missense_Mutation_p.R48Q|GMFG_ENST00000601387.1_Missense_Mutation_p.R40Q|GMFG_ENST00000600322.1_Missense_Mutation_p.R48Q|GMFG_ENST00000598034.1_Missense_Mutation_p.R81Q	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	81	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTAGGACACTCGGCCATCGTC	0.517																																																	0													212	143	166					19																	39820225		2203	4300	6503	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.242G>A	19.37:g.39820225C>T	ENSP00000472249:p.Arg81Gln		Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.R81Q	ENST00000597595.1	37	c.242	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.314696	0.95655	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.16	4.16	0.48862	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.50627	D	0.000106	D	0.84257	0.5432	M	0.92268	3.29	0.53005	D	0.999964	D;D	0.67145	0.993;0.996	P;D	0.70716	0.893;0.97	D	0.86929	0.2072	9	0.46703	T	0.11	-11.5539	14.3378	0.66603	0.0:1.0:0.0:0.0	.	81;81	O60234;Q6IB37	GMFG_HUMAN;.	Q	81	.	ENSP00000253054:R81Q	R	-	2	0	GMFG	44512065	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.966000	0.76073	2.297000	0.77311	0.561000	0.74099	CGA	GMFG	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.517	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	C			39820225	-1	no_errors	ENST00000597595	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39820225	C	T	39820225	3	4	96	1	0	0	0	0	1	0	0	0	6509	884	31	1	198	1	GMFG	19	39820225	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	2378761	39820225	19308758	106	13706										
SNRPD2	6633	genome.wustl.edu	37	chr19	46190854	46190854	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tccgcaggaccacgatgactGagtccccgcgcaggaacatc	11	15	0	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:46190854G>A	ENST00000342669.3	-	3	758	c.314C>T	c.(313-315)tCa>tTa	p.S105L	SNRPD2_ENST00000587367.1_Missense_Mutation_p.S95L|SNRPD2_ENST00000588301.1_Missense_Mutation_p.S105L|SNRPD2_ENST00000585392.1_Missense_Mutation_p.S41L|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000391932.3_Missense_Mutation_p.S95L|SNRPD2_ENST00000588599.1_Missense_Mutation_p.S95L	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	105					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CACGATGACTGAGTCCCCGCG	0.567																																																	0													126	102	110					19																	46190854		2203	4300	6503	SO:0001583	missense	6633				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.314C>T	19.37:g.46190854G>A	ENSP00000342374:p.Ser105Leu		A8K797|J3KPM5|P43330	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.S105L	ENST00000342669.3	37	c.314	CCDS33053.1	19	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780415	0.70222	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	T;T	0.47869	0.83;0.83	5.92	5.92	0.95590	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.274060	0.37053	N	0.002268	T	0.57770	0.2076	M	0.90425	3.115	0.80722	D	1	B	0.27997	0.197	B	0.29663	0.105	T	0.62220	-0.6900	10	0.66056	D	0.02	.	13.4067	0.60917	0.0:0.1574:0.8426:0.0	.	105	P62316	SMD2_HUMAN	L	105;95	ENSP00000342374:S105L;ENSP00000375798:S95L	ENSP00000342374:S105L	S	-	2	0	SNRPD2	50882694	1.000000	0.71417	0.977000	0.42913	0.935000	0.57460	6.979000	0.76154	2.804000	0.96469	0.655000	0.94253	TCA	SNRPD2	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.567	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	G	NM_004597		46190854	-1	no_errors	ENST00000342669	ensembl	human	known	70_37	missense	SNP	0.998	A	A	46190854	G	A	46190854	3	1	96	1	0	0	0	0	1	0	0	0	14895	1294	45	1	46	1	SNRPD2	19	46190854	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	6370629	46190854	12938129	107	13707										
FUZ	80199	genome.wustl.edu	37	chr19	50314640	50314640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctgcaagagggacccctctgGaggaatcacgcagtccacac	11	14	2	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:50314640G>A	ENST00000313777.4	-	5	635	c.472C>T	c.(472-474)Cca>Tca	p.P158S	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.P108S|FUZ_ENST00000445575.2_Missense_Mutation_p.P158S|FUZ_ENST00000528094.1_Missense_Mutation_p.P122S|FUZ_ENST00000526575.1_Intron|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	158					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GACCCCTCTGGAGGAATCACG	0.562																																																	0													62	49	54					19																	50314640		2203	4299	6502	SO:0001583	missense	80199			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.472C>T	19.37:g.50314640G>A	ENSP00000313309:p.Pro158Ser		B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	NULL	p.P158S	ENST00000313777.4	37	c.472	CCDS12781.1	19	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669373	0.47677	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.35	3.25	0.37280	.	0.135997	0.49916	D	0.000139	T	0.21962	0.0529	L	0.31664	0.95	0.35225	D	0.776356	D;B;P	0.59357	0.985;0.42;0.532	P;B;B	0.52066	0.689;0.219;0.284	T	0.14952	-1.0454	10	0.33940	T	0.23	-20.6847	11.6676	0.51383	0.0:0.1781:0.8219:0.0	.	158;122;158	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	S	122;108;158;158;58;158;108;158	ENSP00000435177:P122S;ENSP00000431731:P108S;ENSP00000313309:P158S;ENSP00000408018:P158S	ENSP00000313309:P158S	P	-	1	0	FUZ	55006452	0.998000	0.40836	1.000000	0.80357	0.751000	0.42716	0.745000	0.26259	2.253000	0.74438	0.462000	0.41574	CCA	FUZ	-	NULL		0.562	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1	G	NM_025129		50314640	-1	no_errors	ENST00000313777	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50314640	G	A	50314640	3	1	96	1	0	0	0	0	1	0	0	0	6130	1174	41	1	812	1	FUZ	19	50314640	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	4123786	50314640	8814343	108	13708										
FUZ	80199	genome.wustl.edu	37	chr19	50314710	50314710	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tcccccaggaagctgtcgatGaggcaataactggcctagga	12	11	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:50314710G>A	ENST00000313777.4	-	5	565	c.402C>T	c.(400-402)ctC>ctT	p.L134L	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Silent_p.L84L|FUZ_ENST00000445575.2_Silent_p.L134L|FUZ_ENST00000528094.1_Silent_p.L98L|FUZ_ENST00000526575.1_3'UTR|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	134					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGCTGTCGATGAGGCAATAAC	0.607																																																	0													66	60	62					19																	50314710		2203	4300	6503	SO:0001819	synonymous_variant	80199			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.402C>T	19.37:g.50314710G>A			B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	NULL	p.L134	ENST00000313777.4	37	c.402	CCDS12781.1	19																																																																																			FUZ	-	NULL		0.607	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1	G	NM_025129		50314710	-1	no_errors	ENST00000313777	ensembl	human	known	70_37	silent	SNP	0.992	A	A	50314710	G	A	50314710	2	1	96	1	0	0	0	0	0	0	0	1	6130	1277	45	1		1	FUZ	19	50314710	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	70	50314710	8814273	109	13709										
LAIR2	3904	genome.wustl.edu	37	chr19	55019207	55019207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gcccggttggggttcaaacaTtccgcctggagagggaggat	16	9	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:55019207T>C	ENST00000301202.2	+	3	294	c.172T>C	c.(172-174)Ttc>Ctc	p.F58L	LAIR2_ENST00000351841.2_Missense_Mutation_p.F58L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	58	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GGTTCAAACATTCCGCCTGGA	0.552																																																	0													98	98	98					19																	55019207		2203	4300	6503	SO:0001583	missense	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.172T>C	19.37:g.55019207T>C	ENSP00000301202:p.Phe58Leu		Q6PEZ4	Missense_Mutation	SNP	smart_Ig_sub	p.F58L	ENST00000301202.2	37	c.172	CCDS12897.1	19	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744159	0.49151	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.23348	1.91;2.74;2.74	3.51	1.16	0.20824	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.331162	0.22040	N	0.065468	T	0.50051	0.1593	M	0.91717	3.235	0.09310	N	1	D;D;D	0.71674	0.997;0.99;0.998	P;D;D	0.72982	0.904;0.979;0.953	T	0.40646	-0.9552	10	0.87932	D	0	.	3.8782	0.09066	0.2152:0.0:0.2228:0.562	.	52;58;58	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	L	52;40;58;58	ENSP00000390729:F52L;ENSP00000301202:F58L;ENSP00000301203:F58L	ENSP00000301202:F58L	F	+	1	0	LAIR2	59711019	0.115000	0.22152	0.007000	0.13788	0.020000	0.10135	2.685000	0.46959	0.047000	0.15862	-0.695000	0.03696	TTC	LAIR2	-	smart_Ig_sub		0.552	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	HGNC	protein_coding	OTTHUMT00000140801.1	T			55019207	1	no_errors	ENST00000301202	ensembl	human	known	70_37	missense	SNP	0.002	C	C	55019207	T	C	55019207	3	2	96	1	0	0	0	0	1	0	0	0	8623	1493	52	5	182	5	LAIR2	19	55019207	Missense_Mutation	SNP	T	TCGA-EK-A2IP-01A-11D-A17W-09	4704497	55019207	4109776	110	13710										
KIR3DL1	3811	genome.wustl.edu	37	chr19	55329005	55329005	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctagggttgttcttggtccaGagggccggtccacacatggg	15	10	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:55329005G>A	ENST00000391728.4	+	2	84	c.51G>A	c.(49-51)caG>caA	p.Q17Q	KIR3DL1_ENST00000402254.2_Silent_p.Q17Q|KIR3DL1_ENST00000538269.1_Silent_p.Q17Q|KIR3DL1_ENST00000358178.4_Silent_p.Q17Q|KIR3DL1_ENST00000541392.1_Silent_p.Q17Q|KIR3DL1_ENST00000326542.7_Silent_p.Q17Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	17					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGGTCCAGAGGGCCGGTC	0.567																																																	0													26	42	37					19																	55329005		2120	4064	6184	SO:0001819	synonymous_variant	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.51G>A	19.37:g.55329005G>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.Q17	ENST00000391728.4	37	c.51	CCDS42621.1	19																																																																																			KIR3DL1	-	NULL		0.567	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	G	NM_013289		55329005	1	no_errors	ENST00000402254	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55329005	G	A	55329005	2	1	96	1	0	0	0	0	0	0	0	1	8340	933	33	1		1	KIR3DL1	19	55329005	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	309798	55329005	3799978	111	13711										
PAX1	5075	genome.wustl.edu	37	chr20	21695175	21695175	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cctcagtagcttacacggacTgcccatcccggcctcgacct	8	18	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:21695175T>A	ENST00000398485.2	+	5	1393	c.1339T>A	c.(1339-1341)Tgc>Agc	p.C447S	PAX1_ENST00000444366.2_Missense_Mutation_p.L426Q	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	447					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTACACGGACTGCCCATCCCG	0.716																																																	0													11	11	11					20																	21695175		2193	4290	6483	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1339T>A	20.37:g.21695175T>A	ENSP00000381499:p.Cys447Ser		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.C447S	ENST00000398485.2	37	c.1339	CCDS13146.2	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.9|23.9	4.474982|4.474982	0.84640|0.84640	.|.	.|.	ENSG00000125813|ENSG00000125813	ENST00000398485|ENST00000444366	D|D	0.97598|0.98822	-4.45|-5.16	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|.	.|.	.|.	.|.	D|D	0.97980|0.97980	0.9335|0.9335	N|N	0.24115|0.24115	0.695|0.695	0.31966|0.31966	N|N	0.607764|0.607764	B|D;D	0.15141|0.76494	0.012|0.999;0.998	B|D;D	0.11329|0.67382	0.006|0.951;0.927	D|D	0.98023|0.98023	1.0372|1.0372	9|9	0.21540|0.87932	T|D	0.41|0	.|.	13.8023|13.8023	0.63208|0.63208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	447|426;356	P15863|P15863-2;C9J775	PAX1_HUMAN|.;.	S|Q	447|426	ENSP00000381499:C447S|ENSP00000410355:L426Q	ENSP00000381499:C447S|ENSP00000410355:L426Q	C|L	+|+	1|2	0|0	PAX1|PAX1	21643175|21643175	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.973000|0.973000	0.67179|0.67179	4.540000|4.540000	0.60664|0.60664	1.948000|1.948000	0.56530|0.56530	0.454000|0.454000	0.30748|0.30748	TGC|CTG	PAX1	-	NULL		0.716	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	T			21695175	1	no_errors	ENST00000398485	ensembl	human	known	70_37	missense	SNP	0.996	A	A	21695175	T	A	21695175	3	1	96	1	0	0	0	0	1	0	0	0	11502	1580	55	5	1357	5	PAX1	20	21695175	Missense_Mutation	SNP	T	TCGA-EK-A2IP-01A-11D-A17W-09		21695175	41330345	112	13712										
KIF3B	9371	genome.wustl.edu	37	chr20	30898424	30898424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tgggtaatgtcatctctgctCtagtggacggcaaaagcact	11	9	3	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:30898424C>G	ENST00000375712.3	+	2	1011	c.844C>G	c.(844-846)Cta>Gta	p.L282V	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	282	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCTCTGCTCTAGTGGACGG	0.522																																																	0													92	85	88					20																	30898424		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.844C>G	20.37:g.30898424C>G	ENSP00000364864:p.Leu282Val		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L282V	ENST00000375712.3	37	c.844	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368758	0.42003	.	.	ENSG00000101350	ENST00000375712	D	0.85556	-2.0	4.52	1.47	0.22746	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000001	D	0.94225	0.8146	H	0.97829	4.085	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.91635	0.982;0.999	D	0.93367	0.6732	10	0.87932	D	0	.	9.5782	0.39470	0.0:0.7668:0.0:0.2332	.	282;282	B4DYF2;O15066	.;KIF3B_HUMAN	V	282	ENSP00000364864:L282V	ENSP00000364864:L282V	L	+	1	2	KIF3B	30362085	0.998000	0.40836	0.999000	0.59377	0.764000	0.43329	2.096000	0.41738	0.529000	0.28599	0.462000	0.41574	CTA	KIF3B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.522	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	C	NM_004798		30898424	1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30898424	C	G	30898424	3	3	96	1	0	0	0	0	1	0	0	0	8321	912	32	1	846	1	KIF3B	20	30898424	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	9203249	30898424	32127096	113	13713										
COL9A3	1299	genome.wustl.edu	37	chr20	61457204	61457204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cctgggcccgccggcctcccGggcagcgtggggctgcaggt	18	16	0	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:61457204G>A	ENST00000343916.3	+	13	669	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	222	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGCCTCCCGGGCAGCGTGG	0.657																																																	0													19	22	21					20																	61457204		2149	4241	6390	SO:0001819	synonymous_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.666G>A	20.37:g.61457204G>A			Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.P222	ENST00000343916.3	37	c.666	CCDS13505.1	20																																																																																			COL9A3	-	pfam_Collagen		0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	G	NM_001853		61457204	1	no_errors	ENST00000343916	ensembl	human	known	70_37	silent	SNP	0.997	A	A	61457204	G	A	61457204	2	1	96	1	0	0	0	0	0	0	0	1	3714	1103	39	2		2	COL9A3	20	61457204	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	30558780	61457204	1568316	114	13714										
ARFGAP1	55738	genome.wustl.edu	37	chr20	61915226	61915226	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tggggtcacaagcagcagccGgagccggtaaagcccgtgtc	15	12	1	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:61915226G>A	ENST00000370283.4	+	10	857				ARFGAP1_ENST00000547204.1_Silent_p.P173P|ARFGAP1_ENST00000519273.2_Intron|ARFGAP1_ENST00000353546.3_Silent_p.P247P|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000370275.4_Intron|ARFGAP1_ENST00000519604.1_Silent_p.P194P	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AGCAGCAGCCGGAGCCGGTAA	0.597																																																	0													171	159	163					20																	61915226		2203	4300	6503	SO:0001627	intron_variant	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.718-992G>A	20.37:g.61915226G>A			B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.P247	ENST00000370283.4	37	c.741	CCDS13515.1	20																																																																																			ARFGAP1	-	NULL		0.597	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	G	NM_018209		61915226	1	no_errors	ENST00000353546	ensembl	human	known	70_37	silent	SNP	0.988	A	A	61915226	G	A	61915226	1	1	96	0	1	0	0	0	0	0	0	0	849	1103	39	2		2	ARFGAP1	20	61915226	Intron	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	458022	61915226	1110294	115	13715										
CECR2	27443	genome.wustl.edu	37	chr22	17976528	17976528	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	cctctgagggaagccagtttCcaggacctgcctcttcgcac	10	15	2	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:17976528C>T	ENST00000400573.5	+	3	256	c.249C>T	c.(247-249)ttC>ttT	p.F83F	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000342247.5_Silent_p.F63F|CECR2_ENST00000262608.8_Silent_p.F64F|CECR2_ENST00000400585.2_5'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	105					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAGCCAGTTTCCAGGACCTGC	0.542																																																	0													84	88	87					22																	17976528		2017	4179	6196	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.249C>T	22.37:g.17976528C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.F83	ENST00000400573.5	37	c.249		22																																																																																			CECR2	-	NULL		0.542	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316104.5	C	NM_031413		17976528	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	silent	SNP	1.000	T	T	17976528	C	T	17976528	2	4	96	1	0	0	0	0	0	0	0	1	3211	854	30	1		1	CECR2	22	17976528	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		17976528	33328038	116	13716										
TBC1D10A	83874	genome.wustl.edu	37	chr22	30722748	30722748	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ttggcctccgagtcagacccGagagagctgagttcgtcggt	14	11	1	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:30722748G>A	ENST00000215790.7	-	1	287	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.L41L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	41					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGTCAGACCCGAGAGAGCTGA	0.731																																																	0													25	31	29					22																	30722748		2202	4292	6494	SO:0001819	synonymous_variant	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.123C>T	22.37:g.30722748G>A			B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L41	ENST00000215790.7	37	c.123	CCDS13874.1	22																																																																																			TBC1D10A	-	NULL		0.731	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	G	NM_031937		30722748	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	silent	SNP	0.964	A	A	30722748	G	A	30722748	2	1	96	1	0	0	0	0	0	0	0	1	15628	1045	37	1		1	TBC1D10A	22	30722748	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	12746220	30722748	20581818	117	13717										
BPIL2	254240	genome.wustl.edu	37	chr22	32853304	32853304	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gattccagggtaaatggtctGagaggatgagacatagagat	14	4	1	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:32853304G>C	ENST00000397452.1	-	2	180	c.70C>G	c.(70-72)Cag>Gag	p.Q24E	BPIFC_ENST00000300399.3_Missense_Mutation_p.Q24E|BPIFC_ENST00000397450.1_Missense_Mutation_p.Q24E|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	24						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TAAATGGTCTGAGAGGATGAG	0.463											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													129	118	122					22																	32853304		2203	4300	6503	SO:0001583	missense	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.70C>G	22.37:g.32853304G>C	ENSP00000380594:p.Gln24Glu	835	A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.Q24E	ENST00000397452.1	37	c.70	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	g	2.954	-0.216170	0.06101	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000397450	T;T	0.04454	3.62;3.62	4.83	0.0686	0.14370	.	0.831568	0.10851	N	0.627171	T	0.03434	0.0099	L	0.39397	1.21	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.48151	-0.9060	10	0.17369	T	0.5	0.0552	1.3172	0.02110	0.1966:0.1727:0.4531:0.1777	.	24;24	Q5TI88;Q8NFQ6	.;BPIFC_HUMAN	E	24	ENSP00000380594:Q24E;ENSP00000300399:Q24E	ENSP00000300399:Q24E	Q	-	1	0	BPIFC	31183304	0.000000	0.05858	0.006000	0.13384	0.405000	0.30901	-0.360000	0.07622	0.073000	0.16731	-0.279000	0.10071	CAG	BPIFC	-	NULL		0.463	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	G	NM_174932		32853304	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	missense	SNP	0.012	C	C	32853304	G	C	32853304	3	2	96	1	0	0	0	0	1	0	0	0	1495	1299	45	1	1513	1	BPIL2	22	32853304	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	2130556	32853304	18451262	118	13718										
SMCR7L	54471	genome.wustl.edu	37	chr22	39910172	39910172	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gaccgtttcctgcaggccttGaggggacttatcagctactt	11	11	1	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:39910172G>C	ENST00000325301.2	+	6	1660	c.1236G>C	c.(1234-1236)ttG>ttC	p.L412F	MIEF1_ENST00000404569.1_Missense_Mutation_p.L412F|MIEF1_ENST00000402881.1_Missense_Mutation_p.L412F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	412					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TGCAGGCCTTGAGGGGACTTA	0.552											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	90	90					22																	39910172		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1236G>C	22.37:g.39910172G>C	ENSP00000327124:p.Leu412Phe	889	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.L412F	ENST00000325301.2	37	c.1236	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153008	0.57259	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.15256	2.44;2.44;2.44	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	L	0.61218	1.895	0.49798	D	0.999825	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.42430	-0.9452	10	0.42905	T	0.14	-14.3967	19.0806	0.93180	0.0:0.4313:0.5686:0.0	.	412;412	Q9NQG6;B0QY95	MID51_HUMAN;.	F	412	ENSP00000385110:L412F;ENSP00000327124:L412F;ENSP00000385191:L412F	ENSP00000327124:L412F	L	+	3	2	SMCR7L	38240118	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	2.002000	0.40835	0.826000	0.34661	0.655000	0.94253	TTG	SMCR7L	-	NULL		0.552	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	G	NM_019008		39910172	1	no_errors	ENST00000325301	ensembl	human	known	70_37	missense	SNP	0.996	C	C	39910172	G	C	39910172	3	2	96	1	0	0	0	0	1	0	0	0	14821	1281	45	1	1250	1	SMCR7L	22	39910172	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	7056868	39910172	11394394	119	13719										
FAM9A	171482	genome.wustl.edu	37	chrX	8764329	8764329	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ctttttagttgtttttttttCaaagcacgttcaattgtgtt	6	5	2	0			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:8764329C>G	ENST00000543214.1	-	6	603	c.468G>C	c.(466-468)ttG>ttC	p.L156F	FAM9A_ENST00000381003.3_Missense_Mutation_p.L156F	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	156						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GTTTTTTTTTCAAAGCACGTT	0.294																																																	0													141	110	121					X																	8764329		2202	4297	6499	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.468G>C	X.37:g.8764329C>G	ENSP00000440163:p.Leu156Phe		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	NULL	p.L156F	ENST00000543214.1	37	c.468	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223726	0.09863	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	0.678	0.17969	.	.	.	.	.	T	0.47544	0.1451	L	0.47190	1.495	0.09310	N	1	D	0.65815	0.995	P	0.59889	0.865	T	0.31336	-0.9947	7	0.36615	T	0.2	.	.	.	.	.	156	Q8IZU1	FAM9A_HUMAN	F	156	.	ENSP00000370391:L156F	L	-	3	2	FAM9A	8724329	0.999000	0.42202	0.004000	0.12327	0.009000	0.06853	1.205000	0.32308	0.609000	0.30018	0.458000	0.33432	TTG	FAM9A	-	NULL		0.294	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	C	NM_174951		8764329	-1	no_errors	ENST00000381003	ensembl	human	known	70_37	missense	SNP	0.004	G	G	8764329	C	G	8764329	3	3	96	1	0	0	0	0	1	0	0	0	5677	825	29	1	546	1	FAM9A	23	8764329	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09		8764329	146506231	120	13720										
PAGE1	8712	genome.wustl.edu	37	chrX	49459350	49459350	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	atcattggtctacgccgataGattaatcttcttagaaaacc	6	9	4	2			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:49459350G>C	ENST00000376150.3	-	2	156	c.24C>G	c.(22-24)atC>atG	p.I8M		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	8					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					TACGCCGATAGATTAATCTTC	0.378																																																	0													76	63	68					X																	49459350		2203	4300	6503	SO:0001583	missense	8712			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.24C>G	X.37:g.49459350G>C	ENSP00000365320:p.Ile8Met		Q6FGM3|Q9BSS7	Missense_Mutation	SNP	pfam_GAGE	p.I8M	ENST00000376150.3	37	c.24	CCDS14327.1	X	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841104	0.16891	.	.	ENSG00000068985	ENST00000376150	T	0.10099	2.91	1.57	-3.13	0.05266	.	.	.	.	.	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	P	0.51537	0.946	B	0.38683	0.279	T	0.11991	-1.0565	9	0.66056	D	0.02	.	0.0918	0.00040	0.2396:0.1974:0.253:0.31	.	8	O75459	GAGB1_HUMAN	M	8	ENSP00000365320:I8M	ENSP00000365320:I8M	I	-	3	3	PAGE1	49346061	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.390000	0.07332	-1.066000	0.03164	-0.527000	0.04329	ATC	PAGE1	-	pfam_GAGE		0.378	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE1	HGNC	protein_coding	OTTHUMT00000081210.1	G			49459350	-1	no_errors	ENST00000376150	ensembl	human	known	70_37	missense	SNP	0.000	C	C	49459350	G	C	49459350	3	2	96	1	0	0	0	0	1	0	0	0	11413	932	33	1	436	1	PAGE1	23	49459350	Missense_Mutation	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	40695021	49459350	105811210	121	13721										
AKAP4	8852	genome.wustl.edu	37	chrX	49958883	49958883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	ataatctatgttcacttgatCggcatagacactgtagcagt	8	8	2	2	rs147502980	byFrequency	TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:49958883C>A	ENST00000376056.2	-	5	604	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	AKAP4_ENST00000376064.3_Missense_Mutation_p.D152Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D152Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.D161Y					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCACTTGATCGGCATAGACA	0.433																																																	0													201	167	178					X																	49958883		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.454G>T	X.37:g.49958883C>A	ENSP00000365224:p.Asp152Tyr			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D161Y	ENST00000376056.2	37	c.481	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	2.112	-0.403583	0.04832	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.44482	2.37;1.14;2.36;2.37;0.92;1.08	4.7	3.77	0.43336	.	0.172886	0.27092	N	0.020967	T	0.55337	0.1914	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.68353	0.791;0.957	T	0.45011	-0.9290	9	.	.	.	-5.5081	7.7671	0.28986	0.0:0.8709:0.0:0.1291	.	161;152	Q5JQC9;A6ND82	AKAP4_HUMAN;.	Y	152;152;161;152;152;152	ENSP00000365224:D152Y;ENSP00000365226:D152Y;ENSP00000351327:D161Y;ENSP00000365232:D152Y;ENSP00000402403:D152Y;ENSP00000412279:D152Y	.	D	-	1	0	AKAP4	49845623	0.827000	0.29292	0.020000	0.16555	0.145000	0.21501	1.300000	0.33436	0.692000	0.31613	0.292000	0.19580	GAT	AKAP4	-	smart_AKAP_110		0.433	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	C	NM_003886		49958883	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	0.204	A	A	49958883	C	A	49958883	3	1	96	1	0	0	0	0	1	0	0	0	453	884	31	3	2091	3	AKAP4	23	49958883	Missense_Mutation	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	499533	49958883	105311677	122	13722										
RAB33A	9363	genome.wustl.edu	37	chrX	129306117	129306117	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	tccctggagctcgactcgtcGctggaccagtacgtgcagat	12	13	0	1			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:129306117G>T	ENST00000257017.4	+	1	495	c.81G>T	c.(79-81)tcG>tcT	p.S27S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	27					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCGACTCGTCGCTGGACCAGT	0.652																																																	0													58	46	50					X																	129306117		2203	4300	6503	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.81G>T	X.37:g.129306117G>T			Q5JUZ6|Q92465	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S27	ENST00000257017.4	37	c.81	CCDS14621.1	X																																																																																			RAB33A	-	NULL		0.652	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	G	NM_004794		129306117	1	no_errors	ENST00000257017	ensembl	human	known	70_37	silent	SNP	0.988	T	T	129306117	G	T	129306117	2	4	96	1	0	0	0	0	0	0	0	1	12952	1074	38	2		2	RAB33A	23	129306117	Silent	SNP	G	TCGA-EK-A2IP-01A-11D-A17W-09	79347234	129306117	25964443	123	13723										
RAB33A	9363	genome.wustl.edu	37	chrX	129306267	129306267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.540322580645161	67	1.15733667559373e-27	4.30530385691921	4.83152695843051	4.02715736040609	0.018283878995425	0.0682978348882239	51	gtggacttcagggagaagacCgtggaaatcgagggcgagaa	17	6	1	3			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:129306267C>T	ENST00000257017.4	+	1	645	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	77					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGAAGACCGTGGAAATCG	0.622																																																	0													81	67	72					X																	129306267		2203	4300	6503	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.231C>T	X.37:g.129306267C>T			Q5JUZ6|Q92465	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T77	ENST00000257017.4	37	c.231	CCDS14621.1	X																																																																																			RAB33A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.622	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	C	NM_004794		129306267	1	no_errors	ENST00000257017	ensembl	human	known	70_37	silent	SNP	0.958	T	T	129306267	C	T	129306267	2	4	96	1	0	0	0	0	0	0	0	1	12952	639	23	2		2	RAB33A	23	129306267	Silent	SNP	C	TCGA-EK-A2IP-01A-11D-A17W-09	150	129306267	25964293	124	13724										
GABRD	2563	genome.wustl.edu	37	chr1	1961453	1961453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaacgccattgtcctcttctCcctctctgctgccggcgtca	8	17	4	0	rs142619552		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:1961453C>T	ENST00000378585.4	+	9	1174	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	364					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S364F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCCTCTTCTCCCTCTCTGCT	0.692																																																	1	Substitution - Missense(1)	skin(1)											49	48	48					1																	1961453		2202	4287	6489	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1091C>T	1.37:g.1961453C>T	ENSP00000367848:p.Ser364Phe		Q8N4N9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S364F	ENST00000378585.4	37	c.1091	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032778	0.75504	.	.	ENSG00000187730	ENST00000378585	D	0.85702	-2.02	3.82	3.82	0.43975	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.282561	0.35291	N	0.003319	D	0.88020	0.6325	L	0.53249	1.67	0.58432	D	0.999996	D	0.61080	0.989	P	0.58331	0.837	D	0.89215	0.3567	10	0.72032	D	0.01	-23.6599	13.3928	0.60832	0.0:1.0:0.0:0.0	.	364	O14764	GBRD_HUMAN	F	364	ENSP00000367848:S364F	ENSP00000367848:S364F	S	+	2	0	GABRD	1951313	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.015000	0.76387	2.145000	0.66743	0.491000	0.48974	TCC	GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961453	1	no_errors	ENST00000378585	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1961453	C	T	1961453	3	4	97	1	0	0	0	0	1	0	0	0	6187	855	30	1	1125	1	GABRD	1	1961453	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		1961453	247289168	1	13725										
GABRD	2563	genome.wustl.edu	37	chr1	1961472	1961472	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccctctctgctgccggcgtCacgcaggagctggccatctc	11	17	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:1961472C>T	ENST00000378585.4	+	9	1193	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	370					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGCCGGCGTCACGCAGGAGC	0.677																																																	0													37	38	38					1																	1961472		2201	4291	6492	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1110C>T	1.37:g.1961472C>T			Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V370	ENST00000378585.4	37	c.1110	CCDS36.1	1																																																																																			GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt		0.677	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961472	1	no_errors	ENST00000378585	ensembl	human	known	70_37	silent	SNP	0.999	T	T	1961472	C	T	1961472	2	4	97	1	0	0	0	0	0	0	0	1	6187	813	29	1		1	GABRD	1	1961472	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	19	1961472	247289149	2	13726										
PRKCZ	5590	genome.wustl.edu	37	chr1	1986919	1986919	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtggacgccgccacgaccttCgaggagctctgtgaggaagt	15	11	1	1	rs573507359		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:1986919C>T								RP11-547D24.3 (5410 upstream) : PRKCZ (17981 downstream)														p.F37F(2)									CCACGACCTTCGAGGAGCTCT	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		16639	0		0	False		,,,				2504	0																2	Substitution - coding silent(2)	large_intestine(2)											80	57	65					1																	1986919		2203	4300	6503	SO:0001628	intergenic_variant	5590																															1.37:g.1986919C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F37		37	c.111		1																																																																																			PRKCZ	-	pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta	0	0.557					PRKCZ	HGNC			C			1986919	1	no_errors	ENST00000378567	ensembl	human	known	70_37	silent	SNP	0.903	T	T	1986919	C	T	1986919	1	4	97	0	1	0	0	0	0	0	0	0	12544	883	31	1		1	PRKCZ	1	1986919	IGR	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	25447	1986919	247263702	3	13727										
ESPN	83715	genome.wustl.edu	37	chr1	6512126	6512126	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgcgcaagatgcagctgaaGatgcaggaggaggaggagca	18	6	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:6512126G>C	ENST00000377828.1	+	10	2463	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	ESPN_ENST00000461727.1_Missense_Mutation_p.K199N|ESPN_ENST00000416731.1_Missense_Mutation_p.K199N|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	765					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCTGAAGATGCAGGAGG	0.677																																																	0													16	19	18					1																	6512126		2193	4279	6472	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2295G>C	1.37:g.6512126G>C	ENSP00000367059:p.Lys765Asn		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.K765N	ENST00000377828.1	37	c.2295	CCDS70.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.312607|4.312607	0.81358|0.81358	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000434576|ENST00000377828;ENST00000416731	.|D;D	.|0.87491	.|-2.26;-2.26	4.93|4.93	2.99|2.99	0.34606|0.34606	.|.	.|0.053230	.|0.64402	.|D	.|0.000001	D|D	0.91686|0.91686	0.7372|0.7372	M|M	0.75777|0.75777	2.31|2.31	0.42351|0.42351	D|D	0.99237|0.99237	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.76071	.|0.908;0.987	D|D	0.91605|0.91605	0.5298|0.5298	5|10	.|0.87932	.|D	.|0	-24.7978|-24.7978	9.9214|9.9214	0.41466|0.41466	0.1766:0.0:0.8234:0.0|0.1766:0.0:0.8234:0.0	.|.	.|199;765	.|B1AK53-2;B1AK53	.|.;ESPN_HUMAN	H|N	109|765;199	.|ENSP00000367059:K765N;ENSP00000399239:K199N	.|ENSP00000367059:K765N	D|K	+|+	1|3	0|2	ESPN|ESPN	6434713|6434713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.586000|2.586000	0.46119|0.46119	1.042000|1.042000	0.40150|0.40150	0.491000|0.491000	0.48974|0.48974	GAT|AAG	ESPN	-	NULL		0.677	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	G	NM_031475		6512126	1	no_errors	ENST00000377828	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6512126	G	C	6512126	3	2	97	1	0	0	0	0	1	0	0	0	5266	933	33	1	2333	1	ESPN	1	6512126	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4525207	6512126	242738495	4	13728										
PARK7	11315	genome.wustl.edu	37	chr1	8030977	8030977	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctgctgtgaaggagatactGaaggagcaggaaaaccggaa	15	6	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:8030977G>A	ENST00000493678.1	+	5	343	c.276G>A	c.(274-276)ctG>ctA	p.L92L	PARK7_ENST00000338639.5_Silent_p.L92L|PARK7_ENST00000377488.1_Silent_p.L92L|PARK7_ENST00000377493.5_Silent_p.L72L|PARK7_ENST00000377491.1_Silent_p.L92L|PARK7_ENST00000497113.1_3'UTR			Q99497	PARK7_HUMAN	parkinson protein 7	92					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGATACTGAAGGAGCAGG	0.488																																																	0													122	117	119					1																	8030977		2203	4300	6503	SO:0001819	synonymous_variant	11315			D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"Parkinson disease"	16369	protein-coding gene	gene with protein product			"Parkinson disease (autosomal recessive, early onset) 7"			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.276G>A	1.37:g.8030977G>A			B2R4Z1|O14805|Q6DR95|Q7LFU2	Silent	SNP	pfam_ThiJ/PfpI,tigrfam_DJ1	p.L92	ENST00000493678.1	37	c.276	CCDS93.1	1																																																																																			PARK7	-	pfam_ThiJ/PfpI,tigrfam_DJ1		0.488	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK7	HGNC	protein_coding	OTTHUMT00000003577.1	G	NM_007262		8030977	1	no_errors	ENST00000338639	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8030977	G	A	8030977	2	1	97	1	0	0	0	0	0	0	0	1	11474	1277	45	1		1	PARK7	1	8030977	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1518851	8030977	241219644	5	13729										
SPSB1	80176	genome.wustl.edu	37	chr1	9416573	9416573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcggggactcaagggcaaaaAactgtatcctgtagtgagtg	13	7	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:9416573A>G	ENST00000328089.6	+	2	964	c.623A>G	c.(622-624)aAa>aGa	p.K208R	SPSB1_ENST00000377399.2_Missense_Mutation_p.K208R|SPSB1_ENST00000357898.3_Missense_Mutation_p.K208R	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	208	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGGCAAAAAACTGTATCCT	0.542																																																	0													129	128	128					1																	9416573		2203	4300	6503	SO:0001583	missense	80176				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.623A>G	1.37:g.9416573A>G	ENSP00000330221:p.Lys208Arg		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.K208R	ENST00000328089.6	37	c.623	CCDS102.1	1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884833	0.51908	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	T;T;T	0.41400	1.0;1.0;1.0	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.52206	1.635	0.80722	D	1	B	0.14438	0.01	B	0.19148	0.024	T	0.16424	-1.0403	10	0.29301	T	0.29	-6.4047	14.1236	0.65205	1.0:0.0:0.0:0.0	.	208	Q96BD6	SPSB1_HUMAN	R	208	ENSP00000330221:K208R;ENSP00000350573:K208R;ENSP00000366616:K208R	ENSP00000330221:K208R	K	+	2	0	SPSB1	9339160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.273000	0.95719	1.941000	0.56285	0.533000	0.62120	AAA	SPSB1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.542	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB1	HGNC	protein_coding	OTTHUMT00000003727.2	A	NM_025106		9416573	1	no_errors	ENST00000328089	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9416573	A	G	9416573	3	3	97	1	0	0	0	0	1	0	0	0	15142	14	1	5	625	5	SPSB1	1	9416573	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	1385596	9416573	239834048	6	13730										
PRAMEF2	65122	genome.wustl.edu	37	chr1	12921152	12921152	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggacttgaagtgtctctccCagttcccaagcctcggttac	9	13	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:12921152C>T	ENST00000240189.2	+	4	1030	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	315					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCTCTCCCAGTTCCCAAG	0.483																																																	0													142	144	144					1																	12921152		2202	4297	6499	SO:0001587	stop_gained	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.943C>T	1.37:g.12921152C>T	ENSP00000240189:p.Gln315*			Nonsense_Mutation	SNP	NULL	p.Q315*	ENST00000240189.2	37	c.943	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299642	0.40694	.	.	ENSG00000120952	ENST00000240189	.	.	.	0.824	0.824	0.18818	.	0.642419	0.15980	N	0.235324	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0044	0.14280	0.0:1.0:0.0:0.0	.	.	.	.	X	315	.	ENSP00000240189:Q315X	Q	+	1	0	PRAMEF2	12843739	0.305000	0.24481	0.060000	0.19600	0.108000	0.19459	0.650000	0.24858	0.748000	0.32831	0.173000	0.16961	CAG	PRAMEF2	-	NULL		0.483	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12921152	1	no_errors	ENST00000240189	ensembl	human	known	70_37	nonsense	SNP	0.068	T	T	12921152	C	T	12921152	4	4	97	1	0	0	0	0	0	1	0	0	12462	595	21	4	953	4	PRAMEF2	1	12921152	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3504579	12921152	236329469	7	13731										
PRAMEF14	729528	genome.wustl.edu	37	chr1	13669173	13669173	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacccatagacatacaatttCtgccaaagtagaaggtggtg	9	9	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:13669173C>T	ENST00000344998.3	-	4	1195	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	PRAMEF14_ENST00000602491.1_5'UTR|PRAMEF14_ENST00000334600.6_Missense_Mutation_p.R386K			Q5SWL7	PRA14_HUMAN	PRAME family member 14	338					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATACAATTTCTGCCAAAGTA	0.557																																																	0													47	57	54					1																	13669173		2141	4285	6426	SO:0001583	missense	729528					1p36.21	2014-04-01			ENSG00000204481	ENSG00000204481		"-"	13576	other	unknown							Standard	NM_001024661		Approved	OTTHUMG00000007916		Q5SWL7	OTTHUMG00000007916	ENST00000344998.3:c.1013G>A	1.37:g.13669173C>T	ENSP00000341333:p.Arg338Lys			Missense_Mutation	SNP	NULL	p.R386K	ENST00000344998.3	37	c.1157		1	.	.	.	.	.	.	.	.	.	.	C	7.295	0.611837	0.14066	.	.	ENSG00000204481	ENST00000344998;ENST00000334600	T;T	0.09073	3.02;3.02	1.69	-0.52	0.11935	.	0.578516	0.17404	N	0.175443	T	0.04092	0.0114	N	0.12182	0.205	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.34428	-0.9829	10	0.66056	D	0.02	.	4.9218	0.13874	0.0:0.602:0.0:0.398	.	338	Q5SWL7	PRA14_HUMAN	K	338;386	ENSP00000341333:R338K;ENSP00000334410:R386K	ENSP00000334410:R386K	R	-	2	0	PRAMEF14	13541760	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.031000	0.13710	-0.250000	0.09555	-1.252000	0.01501	AGA	PRAMEF14	-	NULL		0.557	PRAMEF14-201	KNOWN	basic|appris_candidate	protein_coding	PRAMEF14	HGNC	protein_coding		C	NM_001099854		13669173	-1	no_errors	ENST00000334600	ensembl	human	known	70_37	missense	SNP	0.000	T	T	13669173	C	T	13669173	3	4	97	1	0	0	0	0	1	0	0	0	12457	913	32	1	1564	1	PRAMEF14	1	13669173	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	748021	13669173	235581448	8	13732										
CROCC	9696	genome.wustl.edu	37	chr1	17279959	17279959	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acgagggcctcctcctagcaGagagtgagaagcagcaggtt	14	10	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:17279959G>C	ENST00000375541.5	+	21	3238	c.3169G>C	c.(3169-3171)Gag>Cag	p.E1057Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTCCTAGCAGAGAGTGAGAA	0.652																																																	0													18	20	19					1																	17279959		2200	4297	6497	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3169G>C	1.37:g.17279959G>C	ENSP00000364691:p.Glu1057Gln			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.E1057Q	ENST00000375541.5	37	c.3169	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604526	0.28623	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.20598	2.06	3.6	3.6	0.41247	.	.	.	.	.	T	0.46833	0.1413	M	0.80982	2.52	0.53688	D	0.999977	D;D;D	0.89917	0.973;1.0;1.0	P;D;D	0.87578	0.904;0.998;0.998	T	0.50759	-0.8790	9	0.48119	T	0.1	.	13.5368	0.61652	0.0:0.0:1.0:0.0	.	920;360;1057	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	Q	1057;938	ENSP00000364691:E1057Q	ENSP00000364691:E1057Q	E	+	1	0	CROCC	17152546	1.000000	0.71417	0.888000	0.34837	0.029000	0.11900	6.693000	0.74582	1.945000	0.56424	0.455000	0.32223	GAG	CROCC	-	NULL		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17279959	1	no_errors	ENST00000375541	ensembl	human	known	70_37	missense	SNP	0.994	C	C	17279959	G	C	17279959	3	2	97	1	0	0	0	0	1	0	0	0	3898	943	33	1	3251	1	CROCC	1	17279959	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3610786	17279959	231970662	9	13733										
UBR4	23352	genome.wustl.edu	37	chr1	19524208	19524208	+	Silent	SNP	G	G	A													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctactgttgcaggcattatGaagaaggaattagctaaaac							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:19524208G>A	ENST00000375254.3	-	7	876	c.849C>T	c.(847-849)ttC>ttT	p.F283F	UBR4_ENST00000375217.2_Silent_p.F283F|UBR4_ENST00000375226.2_Silent_p.F283F|UBR4_ENST00000375267.2_Silent_p.F283F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	283					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGCATTATGAAGAAGGAAT	0.438																																																	0													190	180	183					1																	19524208		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.849C>T	1.37:g.19524208G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.F283	ENST00000375254.3	37	c.849	CCDS189.1	1																																																																																			UBR4	-	NULL		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19524208	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19524208	G	A	19524208	2	1	97	1	0	0	0	0	0	0	0	1	16935	1281	45	1		1	UBR4	1	19524208	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2244249	19524208	229726413	10	13734	73	2								
UBR4	23352	genome.wustl.edu	37	chr1	19524215	19524215	+	Missense_Mutation	SNP	G	G	A													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgcaggcattatgaagaagGaattagctaaaactgcatct							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:19524215G>A	ENST00000375254.3	-	7	869	c.842C>T	c.(841-843)tCc>tTc	p.S281F	UBR4_ENST00000375217.2_Missense_Mutation_p.S281F|UBR4_ENST00000375226.2_Missense_Mutation_p.S281F|UBR4_ENST00000375267.2_Missense_Mutation_p.S281F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	281					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATGAAGAAGGAATTAGCTAA	0.423																																																	0													192	183	186					1																	19524215		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.842C>T	1.37:g.19524215G>A	ENSP00000364403:p.Ser281Phe		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S281F	ENST00000375254.3	37	c.842	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517500	0.85495	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.24350	1.87;1.87;1.86;1.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.21143	-1.0254	10	0.66056	D	0.02	.	18.157	0.89694	0.0:0.0:1.0:0.0	.	281	Q5T4S7	UBR4_HUMAN	F	281	ENSP00000364403:S281F;ENSP00000364416:S281F;ENSP00000364365:S281F;ENSP00000364374:S281F	ENSP00000364365:S281F	S	-	2	0	UBR4	19396802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.630000	0.89119	0.650000	0.86243	TCC	UBR4	-	NULL		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19524215	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19524215	G	A	19524215	3	1	97	1	0	0	0	0	1	0	0	0	16935	1174	41	1	15109	1	UBR4	1	19524215	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7	19524215	229726406	11	13735	73	2								
PLA2G2D	26279	genome.wustl.edu	37	chr1	20440630	20440630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcacccaggggtctgcccccGgcagtggggccgccagtaga	16	15	1	1	rs575656652		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:20440630G>A	ENST00000375105.3	-	4	473	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	139					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R139R(1)		endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTGCCCCCGGCAGTGGGGC	0.617										Multiple Myeloma(11;0.12)			G|||	1	0.000199681	8e-04	0	5008	,	,		17252	0		0	False		,,,				2504	0				Melanoma(60;742 1548 31762 39240)												1	Substitution - coding silent(1)	lung(1)											29	31	31					1																	20440630		2203	4300	6503	SO:0001583	missense	26279			AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.415C>T	1.37:g.20440630G>A	ENSP00000364246:p.Arg139Trp		A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.R139W	ENST00000375105.3	37	c.415	CCDS203.1	1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495131	0.44352	.	.	ENSG00000117215	ENST00000375105	T	0.11712	2.75	4.58	-9.16	0.00694	Phospholipase A2 (3);	3.794430	0.00628	N	0.000474	T	0.14787	0.0357	M	0.73962	2.25	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.23868	-1.0176	10	0.72032	D	0.01	1.0E-4	11.5562	0.50750	0.0:0.2185:0.5944:0.187	.	139	Q9UNK4	PA2GD_HUMAN	W	139	ENSP00000364246:R139W	ENSP00000364246:R139W	R	-	1	2	PLA2G2D	20313217	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-2.131000	0.01311	-2.529000	0.00492	-0.521000	0.04368	CGG	PLA2G2D	-	superfamily_PLipase_A2,smart_PLipase_A2		0.617	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2D	HGNC	protein_coding	OTTHUMT00000007683.1	G			20440630	-1	no_errors	ENST00000375105	ensembl	human	known	70_37	missense	SNP	0.000	A	A	20440630	G	A	20440630	3	1	97	1	0	0	0	0	1	0	0	0	12021	1115	39	2	26	2	PLA2G2D	1	20440630	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	916415	20440630	228809991	12	13736										
PLA2G2C	391013	genome.wustl.edu	37	chr1	20490647	20490647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caccaggaccaagggtgcatCcacctacagagacacagagg	11	13	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:20490647C>A	ENST00000429261.2	-	4	347	c.287G>T	c.(286-288)gGa>gTa	p.G96V	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G97V			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	96					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGGGTGCATCCACCTACAGA	0.602																																																	0													37	36	36					1																	20490647		1959	4144	6103	SO:0001583	missense	391013					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"phospholipase A2, group IIC (possible pseudogene)"			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.287G>T	1.37:g.20490647C>A	ENSP00000389335:p.Gly96Val		Q7M4M6	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.G97V	ENST00000429261.2	37	c.290		1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500237	0.26861	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;T	0.27256	1.68;1.68	3.51	0.194	0.15143	Phospholipase A2 (3);	1.649520	0.04263	N	0.340630	T	0.32734	0.0839	M	0.71581	2.175	0.21652	N	0.999607	P	0.37176	0.586	B	0.42798	0.398	T	0.29579	-1.0007	10	0.66056	D	0.02	.	2.7387	0.05247	0.0:0.3705:0.2518:0.3777	.	96	Q5R387	PA2GC_HUMAN	V	96;97	ENSP00000389335:G96V;ENSP00000247992:G97V	ENSP00000247992:G97V	G	-	2	0	PLA2G2C	20363234	0.003000	0.15002	0.009000	0.14445	0.189000	0.23516	0.453000	0.21811	0.041000	0.15688	0.514000	0.50259	GGA	PLA2G2C	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2		0.602	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	PLA2G2C	HGNC	protein_coding	OTTHUMT00000007689.3	C	NM_001105572		20490647	-1	no_errors	ENST00000247992	ensembl	human	known	70_37	missense	SNP	0.010	A	A	20490647	C	A	20490647	3	1	97	1	0	0	0	0	1	0	0	0	12020	855	30	3	166	3	PLA2G2C	1	20490647	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	50017	20490647	228759974	13	13737										
ASAP3	55616	genome.wustl.edu	37	chr1	23759693	23759693	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcccaggctggcgacagtctCataggtcttgttgctgatgt	12	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23759693C>G	ENST00000336689.3	-	22	2244	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	ASAP3_ENST00000495646.1_Missense_Mutation_p.E238Q|ASAP3_ENST00000437606.2_Missense_Mutation_p.E725Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	734					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCGACAGTCTCATAGGTCTTG	0.607																																																	0													78	84	82					1																	23759693		2203	4300	6503	SO:0001583	missense	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2200G>C	1.37:g.23759693C>G	ENSP00000338769:p.Glu734Gln		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E734Q	ENST00000336689.3	37	c.2200	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940718	0.73557	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.55588	1.86;0.51;0.52	4.69	4.69	0.59074	.	3.125900	0.00974	N	0.003298	T	0.67221	0.2870	L	0.27053	0.805	0.45087	D	0.998109	D;D;D;D	0.89917	1.0;0.989;0.999;1.0	D;P;D;D	0.87578	0.998;0.885;0.915;0.996	T	0.55049	-0.8201	10	0.33940	T	0.23	.	16.7197	0.85407	0.0:1.0:0.0:0.0	.	725;624;257;734	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	Q	257;238;734;61;725	ENSP00000436150:E238Q;ENSP00000338769:E734Q;ENSP00000408826:E725Q	ENSP00000338769:E734Q	E	-	1	0	ASAP3	23632280	1.000000	0.71417	0.988000	0.46212	0.277000	0.26821	5.512000	0.67030	2.605000	0.88082	0.561000	0.74099	GAG	ASAP3	-	NULL		0.607	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	C	NM_017707		23759693	-1	no_errors	ENST00000336689	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23759693	C	G	23759693	3	3	97	1	0	0	0	0	1	0	0	0	1013	835	29	1	527	1	ASAP3	1	23759693	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3269046	23759693	225490928	14	13738										
ASAP3	55616	genome.wustl.edu	37	chr1	23760772	23760772	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaaccaaagctctccccttCagcagcagcttgaggcagtc	8	16	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23760772C>T	ENST00000336689.3	-	19	1970	c.1926G>A	c.(1924-1926)ctG>ctA	p.L642L	ASAP3_ENST00000495646.1_Silent_p.L146L|ASAP3_ENST00000437606.2_Silent_p.L633L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	642					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CTCTCCCCTTCAGCAGCAGCT	0.592																																																	0													123	110	114					1																	23760772		2203	4300	6503	SO:0001819	synonymous_variant	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1926G>A	1.37:g.23760772C>T			B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.L642	ENST00000336689.3	37	c.1926	CCDS235.1	1																																																																																			ASAP3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.592	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	C	NM_017707		23760772	-1	no_errors	ENST00000336689	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23760772	C	T	23760772	2	4	97	1	0	0	0	0	0	0	0	1	1013	813	29	1		1	ASAP3	1	23760772	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1079	23760772	225489849	15	13739										
E2F2	1870	genome.wustl.edu	37	chr1	23848447	23848447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcagcggcccagttcaggtCcaggaccccatcctctgact	9	17	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23848447C>T	ENST00000361729.2	-	3	886	c.460G>A	c.(460-462)Gac>Aac	p.D154N	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	154					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGTTCAGGTCCAGGACCCCA	0.587																																																	0													110	104	106					1																	23848447		2203	4300	6503	SO:0001583	missense	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.460G>A	1.37:g.23848447C>T	ENSP00000355249:p.Asp154Asn		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	pfam_E2F_TDP	p.D154N	ENST00000361729.2	37	c.460	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.238591	0.95240	.	.	ENSG00000007968	ENST00000361729	T	0.12984	2.63	5.62	4.69	0.59074	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.181217	0.46758	D	0.000264	T	0.37265	0.0997	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23904	-1.0175	10	0.87932	D	0	-30.0088	15.0495	0.71854	0.0:0.8569:0.1431:0.0	.	154	Q14209	E2F2_HUMAN	N	154	ENSP00000355249:D154N	ENSP00000355249:D154N	D	-	1	0	E2F2	23721034	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.770000	0.85390	1.341000	0.45600	0.591000	0.81541	GAC	E2F2	-	pfam_E2F_TDP		0.587	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	C	NM_004091		23848447	-1	no_errors	ENST00000361729	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23848447	C	T	23848447	3	4	97	1	0	0	0	0	1	0	0	0	4877	855	30	1	873	1	E2F2	1	23848447	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	87675	23848447	225402174	16	13740										
TCEB3	6924	genome.wustl.edu	37	chr1	24078240	24078240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agtcaaaactaatttggataGaaagtcactgggctccctcc	8	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24078240G>A	ENST00000418390.2	+	4	1494	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	TCEB3_ENST00000609199.1_Missense_Mutation_p.R382K	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	408					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATTTGGATAGAAAGTCACTG	0.458											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													99	112	107					1																	24078240		2203	4299	6502	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1223G>A	1.37:g.24078240G>A	ENSP00000395574:p.Arg408Lys	768	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.R408K	ENST00000418390.2	37	c.1223	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	0.157	-1.085162	0.01873	.	.	ENSG00000011007	ENST00000418390	T	0.06068	3.35	5.58	3.71	0.42584	.	0.186615	0.37136	N	0.002234	T	0.04679	0.0127	L	0.35723	1.085	0.18873	N	0.999988	B	0.06786	0.001	B	0.04013	0.001	T	0.44436	-0.9328	10	0.14252	T	0.57	-5.9827	5.7979	0.18397	0.1938:0.0:0.653:0.1532	.	408	Q14241	ELOA1_HUMAN	K	408	ENSP00000395574:R408K	ENSP00000395574:R408K	R	+	2	0	TCEB3	23950827	0.119000	0.22226	0.082000	0.20525	0.002000	0.02628	2.177000	0.42509	0.712000	0.32039	-0.169000	0.13324	AGA	TCEB3	-	NULL		0.458	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078240	1	no_errors	ENST00000418390	ensembl	human	known	70_37	missense	SNP	0.464	A	A	24078240	G	A	24078240	3	1	97	1	0	0	0	0	1	0	0	0	15711	942	33	1	1237	1	TCEB3	1	24078240	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	229793	24078240	225172381	17	13741			1	58		3	3	122	G		2.879446e-06
TCEB3	6924	genome.wustl.edu	37	chr1	24078346	24078346	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcagctatgaccagccccgGaagaaaaagaaaaagattgt	9	9	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24078346G>A	ENST00000418390.2	+	4	1600	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R	TCEB3_ENST00000609199.1_Silent_p.R417R	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	443					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCAGCCCCGGAAGAAAAAGA	0.438											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102	120	114					1																	24078346		2193	4297	6490	SO:0001819	synonymous_variant	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1329G>A	1.37:g.24078346G>A		768	B2R7Q8|Q8IXH1	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.R443	ENST00000418390.2	37	c.1329	CCDS239.2	1																																																																																			TCEB3	-	NULL		0.438	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078346	1	no_errors	ENST00000418390	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24078346	G	A	24078346	2	1	97	1	0	0	0	0	0	0	0	1	15711	1161	41	1		1	TCEB3	1	24078346	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	106	24078346	225172275	18	13742			1	58		3	3	122	G		2.879446e-06
TCEB3	6924	genome.wustl.edu	37	chr1	24078361	24078361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccccggaagaaaaagaaaaaGattgtgaaaacttcagccac	8	9	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24078361G>C	ENST00000418390.2	+	4	1615	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N	TCEB3_ENST00000609199.1_Missense_Mutation_p.K422N	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	448					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAAAGAAAAAGATTGTGAAAA	0.408											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	112	106					1																	24078361		2195	4299	6494	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1344G>C	1.37:g.24078361G>C	ENSP00000395574:p.Lys448Asn	768	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.K448N	ENST00000418390.2	37	c.1344	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040171	0.55003	.	.	ENSG00000011007	ENST00000418390	T	0.13196	2.61	5.96	4.09	0.47781	.	0.000000	0.64402	D	0.000001	T	0.31231	0.0790	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02519	-1.1147	10	0.66056	D	0.02	-23.8459	9.572	0.39433	0.2763:0.0:0.7237:0.0	.	448	Q14241	ELOA1_HUMAN	N	448	ENSP00000395574:K448N	ENSP00000395574:K448N	K	+	3	2	TCEB3	23950948	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	3.264000	0.51553	1.535000	0.49220	-0.150000	0.13652	AAG	TCEB3	-	NULL		0.408	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078361	1	no_errors	ENST00000418390	ensembl	human	known	70_37	missense	SNP	0.962	C	C	24078361	G	C	24078361	3	2	97	1	0	0	0	0	1	0	0	0	15711	933	33	1	1358	1	TCEB3	1	24078361	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	15	24078361	225172260	19	13743			1	58		3	3	122	G		2.879446e-06
C1orf128	57095	genome.wustl.edu	37	chr1	24113777	24113777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcttgcagcttcgccgacacGaggtgaccatctgcaattac	9	13	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24113777G>A	ENST00000246151.4	+	6	658	c.547G>A	c.(547-549)Gag>Aag	p.E183K	PITHD1_ENST00000374524.1_Missense_Mutation_p.E70K	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	183	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TCGCCGACACGAGGTGACCAT	0.507																																																	0													80	73	75					1																	24113777		2203	4300	6503	SO:0001583	missense	57095				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"TXNL1 C-terminal like"		"chromosome 1 open reading frame 128"	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.547G>A	1.37:g.24113777G>A	ENSP00000246151:p.Glu183Lys		B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Missense_Mutation	SNP	pfam_PITH_dom,superfamily_Galactose-bd-like	p.E183K	ENST00000246151.4	37	c.547	CCDS240.1	1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955090	0.18507	.	.	ENSG00000057757	ENST00000246151;ENST00000374524	.	.	.	5.88	5.88	0.94601	Proteasome-interacting thioredoxin-like domain, C-terminal (1);	0.093485	0.64402	D	0.000001	T	0.43344	0.1243	L	0.28556	0.865	0.51482	D	0.999921	B	0.24721	0.11	B	0.21360	0.034	T	0.32134	-0.9918	9	0.08179	T	0.78	-12.0051	15.3868	0.74708	0.0683:0.0:0.9317:0.0	.	183	Q9GZP4	PITH1_HUMAN	K	183;70	.	ENSP00000246151:E183K	E	+	1	0	PITHD1	23986364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.620000	0.74224	2.788000	0.95919	0.650000	0.86243	GAG	PITHD1	-	NULL		0.507	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITHD1	HGNC	protein_coding	OTTHUMT00000008243.1	G	NM_020362		24113777	1	no_errors	ENST00000246151	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24113777	G	A	24113777	3	1	97	1	0	0	0	0	1	0	0	0	2000	1059	37	1	569	1	C1orf128	1	24113777	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	35416	24113777	225136844	20	13744										
BAI2	576	genome.wustl.edu	37	chr1	32196711	32196711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggctgcaggctcaaagtcCgccggggcagcaccatgtag	14	13	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:32196711C>T	ENST00000373658.3	-	29	4411	c.4070G>A	c.(4069-4071)cGg>cAg	p.R1357Q	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.R1324Q|BAI2_ENST00000398538.1_Missense_Mutation_p.R1345Q|BAI2_ENST00000398556.3_Missense_Mutation_p.R1272Q|BAI2_ENST00000398547.1_Missense_Mutation_p.R1290Q|BAI2_ENST00000257070.4_Missense_Mutation_p.R1324Q|BAI2_ENST00000373655.2_Missense_Mutation_p.R1357Q|BAI2_ENST00000398542.1_Missense_Mutation_p.R1257Q|BAI2_ENST00000440175.2_Missense_Mutation_p.R966Q	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1357					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTCAAAGTCCGCCGGGGCAG	0.701																																																	0													11	11	11					1																	32196711		2179	4255	6434	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4070G>A	1.37:g.32196711C>T	ENSP00000362762:p.Arg1357Gln		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R1357Q	ENST00000373658.3	37	c.4070	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962032	0.74016	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.48201	1.5;1.75;0.92;0.92;1.88;0.82;0.82;1.53;0.95	5.34	5.34	0.76211	.	0.000000	0.39020	N	0.001498	T	0.40719	0.1128	L	0.51422	1.61	0.49582	D	0.999802	P;P;B;P;P;P;P	0.38420	0.608;0.63;0.328;0.496;0.608;0.496;0.496	B;B;B;B;B;B;B	0.30401	0.115;0.074;0.018;0.034;0.115;0.034;0.034	T	0.28332	-1.0047	10	0.17369	T	0.5	.	19.0256	0.92931	0.0:1.0:0.0:0.0	.	1324;1345;966;1272;1357;1357;1345	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	Q	1272;1290;1357;1357;1257;1324;1324;966;1345	ENSP00000381564:R1272Q;ENSP00000381555:R1290Q;ENSP00000362762:R1357Q;ENSP00000362759:R1357Q;ENSP00000381550:R1257Q;ENSP00000257070:R1324Q;ENSP00000435397:R1324Q;ENSP00000391071:R966Q;ENSP00000381548:R1345Q	ENSP00000257070:R1324Q	R	-	2	0	BAI2	31969298	0.914000	0.31030	1.000000	0.80357	0.993000	0.82548	2.468000	0.45102	2.666000	0.90696	0.561000	0.74099	CGG	BAI2	-	NULL		0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32196711	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32196711	C	T	32196711	3	4	97	1	0	0	0	0	1	0	0	0	1300	652	23	2	707	2	BAI2	1	32196711	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	8082934	32196711	217053910	21	13745										
YARS	8565	genome.wustl.edu	37	chr1	33245004	33245004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcaacttctcgaagactttCttcttgggcttgagctcctc	8	12	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:33245004C>G	ENST00000373477.4	-	12	2363	c.1455G>C	c.(1453-1455)aaG>aaC	p.K485N	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	485					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGAAGACTTTCTTCTTGGGCT	0.522																																																	0													136	134	135					1																	33245004		2203	4300	6503	SO:0001583	missense	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1455G>C	1.37:g.33245004C>G	ENSP00000362576:p.Lys485Asn		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.K485N	ENST00000373477.4	37	c.1455	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164036	0.78339	.	.	ENSG00000134684	ENST00000373477	T	0.77358	-1.09	5.84	5.84	0.93424	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.039900	0.85682	D	0.000000	D	0.89798	0.6819	M	0.93283	3.4	0.80722	D	1	D	0.64830	0.994	P	0.61132	0.884	D	0.91132	0.4938	10	0.56958	D	0.05	-21.4404	15.6013	0.76628	0.0:0.9326:0.0:0.0674	.	485	P54577	SYYC_HUMAN	N	485	ENSP00000362576:K485N	ENSP00000362576:K485N	K	-	3	2	YARS	33017591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.246000	0.32803	2.937000	0.99478	0.650000	0.86243	AAG	YARS	-	superfamily_NA-bd_OB-fold-like		0.522	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	C	NM_003680		33245004	-1	no_errors	ENST00000373477	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33245004	C	G	33245004	3	3	97	1	0	0	0	0	1	0	0	0	17498	912	32	1	139	1	YARS	1	33245004	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1048293	33245004	216005617	22	13746										
ZMYM6	9204	genome.wustl.edu	37	chr1	35454317	35454317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	attctgaatgttttgtcttcAaatgatgagaaagatttgct	8	4	3	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:35454317A>C	ENST00000357182.4	-	16	2593	c.2366T>G	c.(2365-2367)tTg>tGg	p.L789W	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	789					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ttttgtcttcaaatgatgaga	0.323																																																	0													32	27	29					1																	35454317		1436	3326	4762	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2366T>G	1.37:g.35454317A>C	ENSP00000349708:p.Leu789Trp		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.L789W	ENST00000357182.4	37	c.2366	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716885	0.48622	.	.	ENSG00000163867	ENST00000357182	T	0.10477	2.87	3.74	3.74	0.42951	.	0.339199	0.26780	N	0.022530	T	0.23370	0.0565	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00595	-1.1653	10	0.48119	T	0.1	-5.2698	9.0584	0.36419	1.0:0.0:0.0:0.0	.	789	O95789	ZMYM6_HUMAN	W	789	ENSP00000349708:L789W	ENSP00000349708:L789W	L	-	2	0	ZMYM6	35226904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.736000	0.62059	1.692000	0.51112	0.533000	0.62120	TTG	ZMYM6	-	NULL		0.323	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	A	NM_007167		35454317	-1	no_errors	ENST00000357182	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35454317	A	C	35454317	3	2	97	1	0	0	0	0	1	0	0	0	17734	131	5	5	1615	5	ZMYM6	1	35454317	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	2209313	35454317	213796304	23	13747										
RHBDL2	54933	genome.wustl.edu	37	chr1	39361710	39361710	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagctcccacaagatatctGagtgggtcaaagatggagct	12	8	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:39361710G>C	ENST00000289248.2	-	5	1548	c.540C>G	c.(538-540)ctC>ctG	p.L180L	RHBDL2_ENST00000538156.1_Silent_p.L247L|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372990.1_Silent_p.L180L|RHBDL2_ENST00000372985.3_Silent_p.L260L			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAAGATATCTGAGTGGGTCAA	0.438																																																	0													59	59	59					1																	39361710		2203	4300	6503	SO:0001819	synonymous_variant	54933			AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"rhomboid (veinlet, Drosophila)-like 2"				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.540C>G	1.37:g.39361710G>C			B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	p.L260	ENST00000289248.2	37	c.780	CCDS30680.1	1																																																																																			RHBDL2	-	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met		0.438	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDL2	HGNC	protein_coding	OTTHUMT00000001216.1	G	NM_017821		39361710	-1	no_errors	ENST00000372985	ensembl	human	known	70_37	silent	SNP	0.986	C	C	39361710	G	C	39361710	2	2	97	1	0	0	0	0	0	0	0	1	13352	1277	45	1		1	RHBDL2	1	39361710	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3907393	39361710	209888911	24	13748										
RHBDL2	54933	genome.wustl.edu	37	chr1	39384655	39384655	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcacctcggccaggctgatgGagatgatgaacacgggaggc	15	10	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:39384655G>C	ENST00000289248.2	-	2	1238	c.230C>G	c.(229-231)tCc>tGc	p.S77C	RHBDL2_ENST00000538156.1_Missense_Mutation_p.S144C|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.S77C|RHBDL2_ENST00000372990.1_Missense_Mutation_p.S77C|RHBDL2_ENST00000372985.3_Missense_Mutation_p.S157C			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAGGCTGATGGAGATGATGAA	0.552																																																	0													125	123	123					1																	39384655		2203	4300	6503	SO:0001583	missense	54933			AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"rhomboid (veinlet, Drosophila)-like 2"				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.230C>G	1.37:g.39384655G>C	ENSP00000289248:p.Ser77Cys		B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	p.S157C	ENST00000289248.2	37	c.470	CCDS30680.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634118	0.47049	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.73	2.45	0.29901	.	0.732493	0.13920	N	0.353648	T	0.11324	0.0276	L	0.44542	1.39	0.37300	D	0.908679	B;B;B	0.18968	0.032;0.01;0.002	B;B;B	0.12156	0.007;0.007;0.002	T	0.09079	-1.0691	10	0.35671	T	0.21	-12.5923	6.9563	0.24574	0.4095:0.0:0.5905:0.0	.	157;144;77	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	C	77;77;144;157;77	ENSP00000362081:S77C;ENSP00000289248:S77C;ENSP00000439227:S144C;ENSP00000362076:S157C;ENSP00000441097:S77C	ENSP00000289248:S77C	S	-	2	0	RHBDL2	39157242	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.457000	0.35212	0.752000	0.32923	0.561000	0.74099	TCC	RHBDL2	-	pirsf_Peptidase_S54_rhomboid_met		0.552	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDL2	HGNC	protein_coding	OTTHUMT00000001216.1	G	NM_017821		39384655	-1	no_errors	ENST00000372985	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39384655	G	C	39384655	3	2	97	1	0	0	0	0	1	0	0	0	13352	1174	41	1	709	1	RHBDL2	1	39384655	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	22945	39384655	209865966	25	13749										
CCDC17	149483	genome.wustl.edu	37	chr1	46086631	46086631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggggtccagaggaagggcccGaagtgggaggcgccagcggc	21	10	0	1	rs143765805		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:46086631G>A	ENST00000528266.1	-	11	1690	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000343901.2_Missense_Mutation_p.R483W|CCDC17_ENST00000421127.2_Missense_Mutation_p.R506W			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	515										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					GGAAGGGCCCGAAGTGGGAGG	0.587																																																	0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	37	36	36		1543,1516	4.8	1	1	dbSNP_134	36	0,8600		0,0,4300	no	missense,missense	CCDC17	NM_001114938.2,NM_001190182.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	515/623,506/614	46086631	1,13005	2203	4300	6503	SO:0001583	missense	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1543C>T	1.37:g.46086631G>A	ENSP00000432172:p.Arg515Trp		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	NULL	p.R483W	ENST00000528266.1	37	c.1447	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086560	0.76642	2.27E-4	0.0	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.48201	0.82;0.82;0.82	5.81	4.82	0.62117	.	0.171410	0.38058	N	0.001827	T	0.66752	0.2821	M	0.71581	2.175	0.33330	D	0.568472	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.977;0.977	T	0.76293	-0.3012	10	0.87932	D	0	-13.9231	14.8513	0.70297	0.0:0.0:0.7857:0.2143	.	515;506;483	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	W	506;483;515	ENSP00000389415:R506W;ENSP00000341451:R483W;ENSP00000432172:R515W	ENSP00000341451:R483W	R	-	1	2	CCDC17	45859218	0.905000	0.30787	0.997000	0.53966	0.930000	0.56654	1.751000	0.38339	2.733000	0.93635	0.655000	0.94253	CGG	CCDC17	-	NULL		0.587	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	G	NM_152500		46086631	-1	no_errors	ENST00000343901	ensembl	human	known	70_37	missense	SNP	0.978	A	A	46086631	G	A	46086631	3	1	97	1	0	0	0	0	1	0	0	0	2798	1057	37	1	337	1	CCDC17	1	46086631	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6701976	46086631	203163990	26	13750										
CYP4A22	284541	genome.wustl.edu	37	chr1	47610594	47610594	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cggtgccaggcattggaagaGagctcagcactcccgtcacc	12	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:47610594G>C	ENST00000371891.3	+	9	1205	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	CYP4A22_ENST00000294337.3_Missense_Mutation_p.E392Q|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.E294Q|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	392						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATTGGAAGAGAGCTCAGCAC	0.572																																					Pancreas(88;1240 1470 2099 14214 37557)												0													127	105	113					1																	47610594		2203	4300	6503	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1174G>C	1.37:g.47610594G>C	ENSP00000360958:p.Glu392Gln		Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.E392Q	ENST00000371891.3	37	c.1174	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	3.930	-0.016388	0.07681	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.70045	-0.45;-0.45;-0.45	1.51	-1.02	0.10135	.	0.594451	0.19071	N	0.123520	T	0.48874	0.1524	L	0.42686	1.345	0.09310	N	1	B;B	0.21520	0.025;0.057	B;B	0.31290	0.127;0.103	T	0.31530	-0.9940	10	0.17369	T	0.5	.	1.0528	0.01583	0.2379:0.1699:0.4198:0.1724	.	294;392	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	Q	294;392;392	ENSP00000360957:E294Q;ENSP00000360958:E392Q;ENSP00000294337:E392Q	ENSP00000294337:E392Q	E	+	1	0	CYP4A22	47383181	0.000000	0.05858	0.104000	0.21259	0.415000	0.31203	-0.599000	0.05700	-0.508000	0.06540	0.194000	0.17425	GAG	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.572	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47610594	1	no_errors	ENST00000371891	ensembl	human	known	70_37	missense	SNP	0.049	C	C	47610594	G	C	47610594	3	2	97	1	0	0	0	0	1	0	0	0	4189	943	33	1	1208	1	CYP4A22	1	47610594	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1523963	47610594	201640027	27	13751										
ORC1L	4998	genome.wustl.edu	37	chr1	52850273	52850273	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccgtcagcttcatgccattGacctcaatgtattgaaaggg	9	10	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:52850273G>C	ENST00000371568.3	-	11	1922	c.1704C>G	c.(1702-1704)gtC>gtG	p.V568V	ORC1_ENST00000371566.1_Silent_p.V568V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	568	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATGCCATTGACCTCAATGT	0.498																																																	0													136	112	120					1																	52850273		2203	4300	6503	SO:0001819	synonymous_variant	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1704C>G	1.37:g.52850273G>C			D3DQ34|Q13471|Q5T0F5	Silent	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.V568	ENST00000371568.3	37	c.1704	CCDS566.1	1																																																																																			ORC1	-	pfam_ATPase_AAA_core,pfam_DUF2075,smart_AAA+_ATPase		0.498	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	G	NM_004153		52850273	-1	no_errors	ENST00000371566	ensembl	human	known	70_37	silent	SNP	1.000	C	C	52850273	G	C	52850273	2	2	97	1	0	0	0	0	0	0	0	1	11285	1277	45	1		1	ORC1L	1	52850273	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5239679	52850273	196400348	28	13752										
MYSM1	114803	genome.wustl.edu	37	chr1	59165694	59165694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgccgctaccacgtccccttCgatatccacatccgcctctt	5	20	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:59165694C>T	ENST00000472487.1	-	1	70	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	11					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACGTCCCCTTCGATATCCACA	0.677																																																	0													31	39	37					1																	59165694		1918	4120	6038	SO:0001583	missense	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.31G>A	1.37:g.59165694C>T	ENSP00000418734:p.Glu11Lys		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom	p.E11K	ENST00000472487.1	37	c.31	CCDS41343.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567651	0.86439	.	.	ENSG00000162601	ENST00000472487	T	0.33865	1.39	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.34521	1.04	0.49299	D	0.999775	D	0.76494	0.999	D	0.68621	0.959	T	0.44128	-0.9348	10	0.66056	D	0.02	-19.4114	13.234	0.59958	0.0:1.0:0.0:0.0	.	11	Q5VVJ2	MYSM1_HUMAN	K	11	ENSP00000418734:E11K	ENSP00000418734:E11K	E	-	1	0	MYSM1	58938282	0.992000	0.36948	0.997000	0.53966	0.993000	0.82548	3.861000	0.56002	2.560000	0.86352	0.655000	0.94253	GAA	MYSM1	-	NULL		0.677	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	C	XM_055481		59165694	-1	no_errors	ENST00000472487	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59165694	C	T	59165694	3	4	97	1	0	0	0	0	1	0	0	0	10124	893	31	1	2535	1	MYSM1	1	59165694	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6315421	59165694	190084927	29	13753										
MIER1	57708	genome.wustl.edu	37	chr1	67425385	67425385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgaagtagaagaagaatctGaagaagatgaagattatatt	11	1	1	9			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:67425385G>A	ENST00000355356.3	+	6	648	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MIER1_ENST00000371018.3_Missense_Mutation_p.E184K|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355977.6_Missense_Mutation_p.E104K|MIER1_ENST00000371016.1_Missense_Mutation_p.E184K|MIER1_ENST00000401041.1_Missense_Mutation_p.E220K|MIER1_ENST00000357692.2_Missense_Mutation_p.E184K|MIER1_ENST00000371014.1_Missense_Mutation_p.E220K|MIER1_ENST00000401042.3_Missense_Mutation_p.E167K	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	167	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AGAAGAATCTGAAGAAGATGA	0.269																																																	0													62	65	64					1																	67425385		1786	4018	5804	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.499G>A	1.37:g.67425385G>A	ENSP00000347514:p.Glu167Lys		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E220K	ENST00000355356.3	37	c.658	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.170638	0.94807	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.37752	1.6;1.18;1.58;1.56;1.6;1.58;1.61;1.59	5.38	5.38	0.77491	.	0.308225	0.34986	N	0.003533	T	0.38026	0.1025	M	0.64404	1.975	0.58432	D	0.999998	B;B;P;P;P;P;P;P;P	0.52316	0.243;0.172;0.782;0.884;0.816;0.919;0.952;0.67;0.456	B;B;B;B;B;B;P;B;B	0.49085	0.119;0.023;0.324;0.4;0.225;0.395;0.6;0.277;0.191	T	0.08911	-1.0699	10	0.38643	T	0.18	-40.3963	19.5626	0.95378	0.0:0.0:1.0:0.0	.	184;184;167;167;104;191;184;220;220	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	188;184;104;184;220;184;220;167;167	ENSP00000360057:E184K;ENSP00000348253:E104K;ENSP00000350321:E184K;ENSP00000383820:E220K;ENSP00000360055:E184K;ENSP00000360053:E220K;ENSP00000383821:E167K;ENSP00000347514:E167K	ENSP00000347514:E167K	E	+	1	0	MIER1	67197973	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.575000	0.90766	2.702000	0.92279	0.551000	0.68910	GAA	MIER1	-	NULL		0.269	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	G	NM_020948		67425385	1	no_errors	ENST00000401041	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67425385	G	A	67425385	3	1	97	1	0	0	0	0	1	0	0	0	9603	1291	45	1	761	1	MIER1	1	67425385	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8259691	67425385	181825236	30	13754										
BRDT	676	genome.wustl.edu	37	chr1	92441988	92441988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caactccagttcacaaactgCggcccaagtaagtttgttgt	8	11	1	0	rs148311319		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:92441988C>T	ENST00000362005.3	+	6	1029	c.611C>T	c.(610-612)gCg>gTg	p.A204V	BRDT_ENST00000370389.2_Missense_Mutation_p.A131V|BRDT_ENST00000399546.2_Missense_Mutation_p.A204V|BRDT_ENST00000394530.3_Missense_Mutation_p.A158V|BRDT_ENST00000402388.1_Missense_Mutation_p.A204V	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	204					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCACAAACTGCGGCCCAAGTA	0.358																																																	0								C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	62	59	60		611,623,473,473,392,611,611	1.1	0	1	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	64,64,64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	204/948,208/952,158/902,158/902,131/875,204/948,204/948	92441988	1,13005	2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.611C>T	1.37:g.92441988C>T	ENSP00000354568:p.Ala204Val		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A204V	ENST00000362005.3	37	c.611	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	0.737	-0.777702	0.02929	0.0	1.16E-4	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.09911	3.28;3.28;3.28;3.33;2.93;3.28	4.81	1.14	0.20703	.	0.551776	0.17055	N	0.188795	T	0.00384	0.0012	N	0.00082	-2.215	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.39165	-0.9627	10	0.02654	T	1	0.2347	4.1673	0.10313	0.0:0.1883:0.1757:0.636	.	158;158;208;204	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	V	204;131;204;204;158;204;204	ENSP00000354568:A204V;ENSP00000359416:A131V;ENSP00000387822:A204V;ENSP00000378038:A158V;ENSP00000404969:A204V;ENSP00000384051:A204V	ENSP00000354568:A204V	A	+	2	0	BRDT	92214576	0.040000	0.19996	0.003000	0.11579	0.014000	0.08584	0.610000	0.24253	0.011000	0.14865	-0.351000	0.07748	GCG	BRDT	-	NULL		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	C	NM_207189		92441988	1	no_errors	ENST00000362005	ensembl	human	known	70_37	missense	SNP	0.003	T	T	92441988	C	T	92441988	3	4	97	1	0	0	0	0	1	0	0	0	1511	768	27	2	625	2	BRDT	1	92441988	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	25016603	92441988	156808633	31	13755										
RPAP2	79871	genome.wustl.edu	37	chr1	92846426	92846426	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttagaaccagctgtttaccaGagtggtaagttggattgtgt	12	5	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:92846426G>C	ENST00000610020.1	+	12	1943	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	612					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTGTTTACCAGAGTGGTAAGT	0.323																																																	0													104	101	102					1																	92846426		2203	4300	6503	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1834G>C	1.37:g.92846426G>C	ENSP00000476948:p.Glu612Gln		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.E612Q	ENST00000610020.1	37	c.1834	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161525	0.21538	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.38	-0.85	0.10720	.	3.846920	0.01773	U	0.031260	T	0.04815	0.0130	N	0.08118	0	0.20307	N	0.999914	B	0.02656	0.0	B	0.04013	0.001	T	0.29549	-1.0008	8	0.62326	D	0.03	.	1.524	0.02521	0.3939:0.1341:0.3343:0.1377	.	612	Q8IXW5	RPAP2_HUMAN	Q	612	.	ENSP00000359368:E612Q	E	+	1	0	RPAP2	92619014	0.000000	0.05858	0.005000	0.12908	0.032000	0.12392	0.008000	0.13197	-0.191000	0.10448	-0.827000	0.03088	GAG	RPAP2	-	NULL		0.323	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	G	NM_024813		92846426	1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	0.001	C	C	92846426	G	C	92846426	3	2	97	1	0	0	0	0	1	0	0	0	13572	943	33	1	1880	1	RPAP2	1	92846426	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	404438	92846426	156404195	32	13756										
VCAM1	7412	genome.wustl.edu	37	chr1	101188842	101188842	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagctaaattacacattgatGaaatggattctgtgcccaca	8	8	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:101188842G>C	ENST00000294728.2	+	3	708	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	VCAM1_ENST00000370119.4_Missense_Mutation_p.E141Q|VCAM1_ENST00000370115.1_Missense_Mutation_p.E203Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.E203Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	203	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACACATTGATGAAATGGATTC	0.428																																																	0													115	112	113					1																	101188842		2203	4299	6502	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.607G>C	1.37:g.101188842G>C	ENSP00000294728:p.Glu203Gln		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.E203Q	ENST00000294728.2	37	c.607	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958936	0.34565	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.25	4.32	0.51571	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.520793	0.22565	N	0.058408	T	0.01156	0.0038	L	0.31926	0.97	0.09310	N	1	B;B;B	0.14012	0.009;0.008;0.006	B;B;B	0.15052	0.005;0.003;0.012	T	0.45833	-0.9234	10	0.14656	T	0.56	-6.1793	13.073	0.59072	0.0:0.1685:0.8315:0.0	.	141;203;203	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	Q	141;203;203;203	ENSP00000359137:E141Q;ENSP00000304611:E203Q;ENSP00000294728:E203Q;ENSP00000359133:E203Q	ENSP00000294728:E203Q	E	+	1	0	VCAM1	100961430	0.006000	0.16342	0.012000	0.15200	0.394000	0.30568	1.532000	0.36029	1.306000	0.44926	0.467000	0.42956	GAA	VCAM1	-	pfam_Ig_C2-set		0.428	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	G	NM_001078		101188842	1	no_errors	ENST00000294728	ensembl	human	known	70_37	missense	SNP	0.075	C	C	101188842	G	C	101188842	3	2	97	1	0	0	0	0	1	0	0	0	17168	1291	45	1	617	1	VCAM1	1	101188842	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8342416	101188842	148061779	33	13757										
CELSR2	1952	genome.wustl.edu	37	chr1	109815025	109815025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agctacatccccttcttgctGaggtgaatcccggagatggg	12	11	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:109815025G>A	ENST00000271332.3	+	29	8113	c.8052G>A	c.(8050-8052)ctG>ctA	p.L2684L	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2684					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTTCTTGCTGAGGTGAATCC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)												0													59	64	63					1																	109815025		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8052G>A	1.37:g.109815025G>A			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2684	ENST00000271332.3	37	c.8052	CCDS796.1	1																																																																																			CELSR2	-	NULL		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109815025	1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109815025	G	A	109815025	2	1	97	1	0	0	0	0	0	0	0	1	3227	1277	45	1		1	CELSR2	1	109815025	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8626183	109815025	139435596	34	13758										
CELSR2	1952	genome.wustl.edu	37	chr1	109815538	109815538	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctacccactcatcagacagtGaggaggaagaagaggaggag	14	8	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:109815538G>A	ENST00000271332.3	+	31	8288	c.8227G>A	c.(8227-8229)Gag>Aag	p.E2743K	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2743	Poly-Glu.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCAGACAGTgaggaggaaga	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)												0													48	53	51					1																	109815538		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8227G>A	1.37:g.109815538G>A	ENSP00000271332:p.Glu2743Lys		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2743K	ENST00000271332.3	37	c.8227	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813612	0.70912	.	.	ENSG00000143126	ENST00000271332	T	0.71579	-0.58	3.31	3.31	0.37934	.	.	.	.	.	T	0.75759	0.3893	M	0.71036	2.16	0.37130	D	0.901202	D	0.57571	0.98	D	0.70227	0.968	T	0.74979	-0.3479	9	0.31617	T	0.26	.	13.8855	0.63706	0.0:0.0:1.0:0.0	.	2743	Q9HCU4	CELR2_HUMAN	K	2743	ENSP00000271332:E2743K	ENSP00000271332:E2743K	E	+	1	0	CELSR2	109617061	1.000000	0.71417	0.995000	0.50966	0.893000	0.52053	7.188000	0.77739	1.836000	0.53414	0.462000	0.41574	GAG	CELSR2	-	NULL		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109815538	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109815538	G	A	109815538	3	1	97	1	0	0	0	0	1	0	0	0	3227	1291	45	1	8349	1	CELSR2	1	109815538	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	513	109815538	139435083	35	13759										
AMPD2	271	genome.wustl.edu	37	chr1	110173305	110173305	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agggaacctggcccgtgcagGagccgctgatggaggagtac	17	10	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:110173305G>C	ENST00000256578.3	+	17	2680	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	AMPD2_ENST00000358729.4_Splice_Site_p.E699Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Splice_Site_p.E693Q|AMPD2_ENST00000528454.1_Splice_Site_p.E656Q|AMPD2_ENST00000393688.3_Splice_Site_p.E655Q|AMPD2_ENST00000528667.1_Splice_Site_p.E774Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	774					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCCGTGCAGGAGCCGCTGAT	0.672																																																	0													32	30	30					1																	110173305		2203	4299	6502	SO:0001630	splice_region_variant	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2320-1G>C	1.37:g.110173305G>C			B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.E774Q	ENST00000256578.3	37	c.2320	CCDS805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.017947|5.017947	0.93404|0.93404	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.85258|.	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Adenosine/AMP deaminase (1);|.	0.108387|.	0.64402|.	N|.	0.000008|.	T|T	0.79209|0.79209	0.4407|0.4407	M|M	0.84773|0.84773	2.715|2.715	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P;D|.	0.56968|.	0.978;0.892;0.91;0.976|.	P;P;D;P|.	0.65773|.	0.789;0.762;0.938;0.906|.	T|T	0.80982|0.80982	-0.1139|-0.1139	10|5	0.56958|.	D|.	0.05|.	-19.077|-19.077	17.8573|17.8573	0.88769|0.88769	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	699;655;774;693|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	Q|P	693;774;774;699;656;655|755	ENSP00000345498:E693Q;ENSP00000436541:E774Q;ENSP00000256578:E774Q;ENSP00000351573:E699Q;ENSP00000437164:E656Q;ENSP00000377292:E655Q|.	ENSP00000256578:E774Q|.	E|R	+|+	1|2	0|0	AMPD2|AMPD2	109974828|109974828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.595000|9.595000	0.98260|0.98260	2.562000|2.562000	0.86427|0.86427	0.491000|0.491000	0.48974|0.48974	GAG|CGA	AMPD2	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.672	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1	G		Missense_Mutation	110173305	1	no_errors	ENST00000256578	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110173305	G	C	110173305	5	2	97	1	0	0	0	0	0	0	1	0	586	1188	41	1	2427	1	AMPD2	1	110173305	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	357767	110173305	139077316	36	13760										
TRIM33	51592	genome.wustl.edu	37	chr1	114940291	114940291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tactttatatgtactggtctCtcatctgactttaggcgttt	7	8	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:114940291C>G	ENST00000358465.2	-	20	3446	c.3363G>C	c.(3361-3363)gaG>gaC	p.E1121D	TRIM33_ENST00000369543.2_Missense_Mutation_p.E1104D|TRIM33_ENST00000450349.2_Missense_Mutation_p.E753D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1121					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTGGTCTCTCATCTGACT	0.343			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													111	115	114					1																	114940291		2203	4300	6503	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3363G>C	1.37:g.114940291C>G	ENSP00000351250:p.Glu1121Asp		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain	p.E1121D	ENST00000358465.2	37	c.3363	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.873379|1.873379	0.33069|0.33069	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.76968|.	-0.91;-0.85;-1.06|.	5.46|5.46	2.54|2.54	0.30619|0.30619	.|.	0.091251|.	0.85682|.	N|.	0.000000|.	T|T	0.31544|0.31544	0.0800|0.0800	L|L	0.31420|0.31420	0.93|0.93	0.53688|0.53688	D|D	0.999977|0.999977	B;B;B;B|.	0.23128|.	0.0;0.001;0.08;0.009|.	B;B;B;B|.	0.42343|.	0.0;0.001;0.384;0.007|.	T|T	0.07539|0.07539	-1.0767|-1.0767	10|5	0.49607|.	T|.	0.09|.	-6.9248|-6.9248	8.7521|8.7521	0.34622|0.34622	0.0:0.7379:0.1254:0.1367|0.0:0.7379:0.1254:0.1367	.|.	753;753;1104;1121|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	D|T	1121;1104;753|882	ENSP00000351250:E1121D;ENSP00000358556:E1104D;ENSP00000412077:E753D|.	ENSP00000351250:E1121D|.	E|R	-|-	3|2	2|0	TRIM33|TRIM33	114741814|114741814	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.461000|0.461000	0.21940|0.21940	0.347000|0.347000	0.23924|0.23924	0.650000|0.650000	0.86243|0.86243	GAG|AGA	TRIM33	-	NULL		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	C	NM_015906		114940291	-1	no_errors	ENST00000358465	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114940291	C	G	114940291	3	3	97	1	0	0	0	0	1	0	0	0	16538	912	32	1	24	1	TRIM33	1	114940291	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4766986	114940291	134310330	37	13761										
VTCN1	79679	genome.wustl.edu	37	chr1	117695881	117695881	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgagaagttggctccctggtCaacttgggatgcccagacca	12	12	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:117695881C>T	ENST00000369458.3	-	4	634	c.556G>A	c.(556-558)Gac>Aac	p.D186N	VTCN1_ENST00000539893.1_Missense_Mutation_p.D91N|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Missense_Mutation_p.D70N|VTCN1_ENST00000359008.4_Missense_Mutation_p.D189N	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GCTCCCTGGTCAACTTGGGAT	0.532																																																	0													95	91	92					1																	117695881		2203	4300	6503	SO:0001583	missense	79679			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.556G>A	1.37:g.117695881C>T	ENSP00000358470:p.Asp186Asn			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.D189N	ENST00000369458.3	37	c.565	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285979	0.23478	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.25912	3.27;3.25;1.77;4.16	5.34	4.43	0.53597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170866	0.41605	N	0.000859	T	0.06234	0.0161	N	0.11560	0.145	0.31127	N	0.708198	B;B	0.32573	0.376;0.017	B;B	0.33392	0.163;0.023	T	0.16482	-1.0401	10	0.44086	T	0.13	-22.6273	11.7927	0.52078	0.0:0.9196:0.0:0.0804	.	70;186	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	N	186;189;70;91	ENSP00000358470:D186N;ENSP00000351899:D189N;ENSP00000328168:D70N;ENSP00000444724:D91N	ENSP00000328168:D70N	D	-	1	0	VTCN1	117497404	0.004000	0.15560	0.756000	0.31282	0.059000	0.15707	0.179000	0.16840	1.631000	0.50456	0.650000	0.86243	GAC	VTCN1	-	pfscan_Ig-like		0.532	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	HGNC	protein_coding	OTTHUMT00000033500.2	C	NM_024626		117695881	-1	no_errors	ENST00000359008	ensembl	human	known	70_37	missense	SNP	0.786	T	T	117695881	C	T	117695881	3	4	97	1	0	0	0	0	1	0	0	0	17265	826	29	1	300	1	VTCN1	1	117695881	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2755590	117695881	131554740	38	13762										
HSD3B2	3284	genome.wustl.edu	37	chr1	119964551	119964551	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcatccagaacggccacgaaGaagagcctctggaaaacaca	9	12	2	3	rs587631086		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:119964551G>C	ENST00000543831.1	+	4	676	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E143Q	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	143					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CGGCCACGAAGAAGAGCCTCT	0.527													G|||	1	0.000199681	0	0	5008	,	,		17609	0.001		0	False		,,,				2504	0																0													97	97	97					1																	119964551		2203	4300	6503	SO:0001583	missense	3284			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.427G>C	1.37:g.119964551G>C	ENSP00000445122:p.Glu143Gln		A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.E143Q	ENST00000543831.1	37	c.427	CCDS902.1	1	.	.	.	.	.	.	.	.	.	.	-	9.191	1.026157	0.19512	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.89270	-2.49;-2.49;-2.49	4.1	3.14	0.36123	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.325916	0.35407	N	0.003229	D	0.84320	0.5446	M	0.82056	2.57	0.32189	N	0.579371	B	0.26547	0.152	B	0.36092	0.217	T	0.78107	-0.2333	9	.	.	.	-1.5489	11.9279	0.52829	0.0:0.0:0.8246:0.1754	.	143	P26439	3BHS2_HUMAN	Q	143	ENSP00000445122:E143Q;ENSP00000388292:E143Q;ENSP00000358424:E143Q	.	E	+	1	0	HSD3B2	119766074	1.000000	0.71417	0.066000	0.19879	0.021000	0.10359	5.013000	0.64023	0.688000	0.31529	0.298000	0.19748	GAA	HSD3B2	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct		0.527	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	G	NM_000198		119964551	1	no_errors	ENST00000369416	ensembl	human	known	70_37	missense	SNP	0.998	C	C	119964551	G	C	119964551	3	2	97	1	0	0	0	0	1	0	0	0	7411	943	33	1	437	1	HSD3B2	1	119964551	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2268670	119964551	129286070	39	13763										
CA14	23632	genome.wustl.edu	37	chr1	150237051	150237051	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctcagcacaagccacgactGaggcataaattccttctcag	7	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:150237051G>A	ENST00000369111.4	+	11	1976	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	snoU13_ENST00000458929.1_RNA|APH1A_ENST00000461320.1_5'Flank	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	336					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AGCCACGACTGAGGCATAAAT	0.478																																																	0													93	74	80					1																	150237051		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.1006G>A	1.37:g.150237051G>A	ENSP00000358107:p.Glu336Lys		Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.E336K	ENST00000369111.4	37	c.1006	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.422832	0.96111	.	.	ENSG00000118298	ENST00000369111	T	0.67345	-0.26	4.86	4.86	0.63082	.	0.757041	0.12147	N	0.495245	T	0.35913	0.0948	N	0.14661	0.345	0.20638	N	0.999872	P	0.40970	0.734	B	0.37731	0.257	T	0.39643	-0.9604	10	0.72032	D	0.01	.	13.3664	0.60687	0.0:0.0:1.0:0.0	.	336	Q9ULX7	CAH14_HUMAN	K	336	ENSP00000358107:E336K	ENSP00000358107:E336K	E	+	1	0	CA14	148503675	0.980000	0.34600	0.216000	0.23742	0.700000	0.40528	2.721000	0.47260	2.525000	0.85131	0.655000	0.94253	GAG	CA14	-	NULL		0.478	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	G	NM_012113		150237051	1	no_errors	ENST00000369111	ensembl	human	known	70_37	missense	SNP	0.272	A	A	150237051	G	A	150237051	3	1	97	1	0	0	0	0	1	0	0	0	2520	1291	45	1	1048	1	CA14	1	150237051	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	30272500	150237051	99013570	40	13764										
FLG	2312	genome.wustl.edu	37	chr1	152278472	152278472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcctgttcatgggatgatgCagcctgtccaccagaggaag	13	10	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:152278472C>T	ENST00000368799.1	-	3	8925	c.8890G>A	c.(8890-8892)Gca>Aca	p.A2964T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2964	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATGATGCAGCCTGTCCA	0.557									Ichthyosis																																								0													11	15	14					1																	152278472		1308	3534	4842	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8890G>A	1.37:g.152278472C>T	ENSP00000357789:p.Ala2964Thr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.A2964T	ENST00000368799.1	37	c.8890	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629822	0.28978	.	.	ENSG00000143631	ENST00000368799	T	0.00864	5.6	3.48	1.53	0.23141	.	.	.	.	.	T	0.00412	0.0013	M	0.68317	2.08	0.09310	N	1	B	0.19935	0.04	B	0.12156	0.007	T	0.45396	-0.9264	9	0.17832	T	0.49	.	4.3628	0.11210	0.0:0.6294:0.238:0.1326	.	2964	P20930	FILA_HUMAN	T	2964	ENSP00000357789:A2964T	ENSP00000357789:A2964T	A	-	1	0	FLG	150545096	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.063000	0.11655	0.798000	0.33994	0.298000	0.19748	GCA	FLG	-	NULL		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152278472	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152278472	C	T	152278472	3	4	97	1	0	0	0	0	1	0	0	0	5940	710	25	4	3299	4	FLG	1	152278472	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2041421	152278472	96972149	41	13765										
SLC27A3	11000	genome.wustl.edu	37	chr1	153750818	153750818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggcgctgtggggcgtgcttCctggctttacaaggtgaggg	19	8	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:153750818C>A	ENST00000368661.3	+	5	1549	c.1484C>A	c.(1483-1485)tCc>tAc	p.S495Y	SLC27A3_ENST00000271857.2_Missense_Mutation_p.S576Y|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	495					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGTGCTTCCTGGCTTTAC	0.602																																																	0													68	70	69					1																	153750818		2203	4300	6503	SO:0001583	missense	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1484C>A	1.37:g.153750818C>A	ENSP00000357650:p.Ser495Tyr		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S495Y	ENST00000368661.3	37	c.1484	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542319|3.542319	0.65198|0.65198	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661;ENST00000532853	.|T;T;T	.|0.59502	.|0.26;0.27;0.76	5.28|5.28	5.28|5.28	0.74379|0.74379	.|AMP-dependent synthetase/ligase (1);	.|0.136301	.|0.49916	.|D	.|0.000121	T|T	0.70971|0.70971	0.3285|0.3285	M|M	0.86343|0.86343	2.81|2.81	0.28869|0.28869	N|N	0.895087|0.895087	.|D	.|0.71674	.|0.998	.|D	.|0.72982	.|0.979	T|T	0.68652|0.68652	-0.5352|-0.5352	5|10	.|0.72032	.|D	.|0.01	-32.8131|-32.8131	12.0219|12.0219	0.53348|0.53348	0.0:0.8264:0.1735:0.0|0.0:0.8264:0.1735:0.0	.|.	.|495	.|Q5K4L6	.|S27A3_HUMAN	T|Y	200|576;495;49	.|ENSP00000271857:S576Y;ENSP00000357650:S495Y;ENSP00000433959:S49Y	.|ENSP00000271857:S576Y	P|S	+|+	1|2	0|0	SLC27A3|SLC27A3	152017442|152017442	0.018000|0.018000	0.18449|0.18449	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.145000|0.145000	0.16157|0.16157	2.747000|2.747000	0.94245|0.94245	0.462000|0.462000	0.41574|0.41574	CCT|TCC	SLC27A3	-	pfam_AMP-dep_Synth/Lig		0.602	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding		C	NM_024330		153750818	1	no_errors	ENST00000368661	ensembl	human	known	70_37	missense	SNP	0.994	A	A	153750818	C	A	153750818	3	1	97	1	0	0	0	0	1	0	0	0	14557	855	30	3	1502	3	SLC27A3	1	153750818	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1472346	153750818	95499803	42	13766										
ATP8B2	57198	genome.wustl.edu	37	chr1	154317602	154317602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgacgcttgccattggagaCggagccaatgatgtcagcat	13	9	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:154317602C>T	ENST00000368489.3	+	22	2541	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	833					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATTGGAGACGGAGCCAATG	0.572											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													148	146	147					1																	154317602		2203	4300	6503	SO:0001819	synonymous_variant	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2541C>T	1.37:g.154317602C>T		1762	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D847	ENST00000368489.3	37	c.2541	CCDS1066.1	1																																																																																			ATP8B2	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	C	NM_020452		154317602	1	no_errors	ENST00000368489	ensembl	human	known	70_37	silent	SNP	0.997	T	T	154317602	C	T	154317602	2	4	97	1	0	0	0	0	0	0	0	1	1196	535	19	2		2	ATP8B2	1	154317602	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	566784	154317602	94933019	43	13767										
IL6R	3570	genome.wustl.edu	37	chr1	154426969	154426969	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttttttttaacctagtgcaaGattcttcttcagtaccactg	5	9	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:154426969G>C	ENST00000368485.3	+	9	1509	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Intron	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	358			D -> A (significantly associated with circulating levels of IL6 and soluble IL6R; dbSNP:rs2228145). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17357077}.		acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCTAGTGCAAGATTCTTCTTC	0.468																																																	0													73	64	67					1																	154426969		2203	4300	6503	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1072G>C	1.37:g.154426969G>C	ENSP00000357470:p.Asp358His		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D358H	ENST00000368485.3	37	c.1072	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.951542|2.951542	0.53186|0.53186	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485|ENST00000515190	T|.	0.18174|.	2.23|.	4.03|4.03	3.1|3.1	0.35709|0.35709	.|.	7.394690|.	0.00166|.	N|.	0.000000|.	T|T	0.42539|0.42539	0.1207|0.1207	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.56746|.	0.977|.	P|.	0.49708|.	0.62|.	T|T	0.32188|0.32188	-0.9916|-0.9916	10|5	0.51188|.	T|.	0.08|.	-2.254|-2.254	9.7628|9.7628	0.40543|0.40543	0.0:0.2107:0.7893:0.0|0.0:0.2107:0.7893:0.0	.|.	358|.	P08887|.	IL6RA_HUMAN|.	H|N	358|160	ENSP00000357470:D358H|.	ENSP00000357470:D358H|.	D|K	+|+	1|3	0|2	IL6R|IL6R	152693593|152693593	0.255000|0.255000	0.24002|0.24002	0.874000|0.874000	0.34290|0.34290	0.349000|0.349000	0.29174|0.29174	0.291000|0.291000	0.18994|0.18994	1.015000|1.015000	0.39444|0.39444	-0.315000|-0.315000	0.08773|0.08773	GAT|AAG	IL6R	-	NULL		0.468	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	G	NM_000565		154426969	1	no_errors	ENST00000368485	ensembl	human	known	70_37	missense	SNP	0.830	C	C	154426969	G	C	154426969	3	2	97	1	0	0	0	0	1	0	0	0	7722	942	33	1	1106	1	IL6R	1	154426969	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	109367	154426969	94823652	44	13768										
IL6R	3570	genome.wustl.edu	37	chr1	154427027	154427027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggagggagcctggccttcgGaacgctcctctgcattgcca	13	13	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:154427027G>A	ENST00000368485.3	+	9	1567	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Intron	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	377					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGGCCTTCGGAACGCTCCTC	0.483																																																	0													111	97	102					1																	154427027		2203	4300	6503	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1130G>A	1.37:g.154427027G>A	ENSP00000357470:p.Gly377Glu		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G377E	ENST00000368485.3	37	c.1130	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.96|17.96	3.516437|3.516437	0.64634|0.64634	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000515190|ENST00000368485	.|T	.|0.25912	.|1.77	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.888017	.|0.09415	.|N	.|0.805251	T|T	0.41166|0.41166	0.1147|0.1147	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.11036|0.11036	-1.0604|-1.0604	5|10	.|0.51188	.|T	.|0.08	-20.8596|-20.8596	12.4624|12.4624	0.55738|0.55738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|377	.|P08887	.|IL6RA_HUMAN	K|E	180|377	.|ENSP00000357470:G377E	.|ENSP00000357470:G377E	E|G	+|+	1|2	0|0	IL6R|IL6R	152693651|152693651	0.969000|0.969000	0.33509|0.33509	0.168000|0.168000	0.22838|0.22838	0.007000|0.007000	0.05969|0.05969	2.941000|2.941000	0.49011|0.49011	2.309000|2.309000	0.77851|0.77851	0.555000|0.555000	0.69702|0.69702	GAA|GGA	IL6R	-	NULL		0.483	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	G	NM_000565		154427027	1	no_errors	ENST00000368485	ensembl	human	known	70_37	missense	SNP	0.222	A	A	154427027	G	A	154427027	3	1	97	1	0	0	0	0	1	0	0	0	7722	1174	41	1	1164	1	IL6R	1	154427027	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	58	154427027	94823594	45	13769										
SMG5	23381	genome.wustl.edu	37	chr1	156238112	156238112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggagacagtttccgagtctCacacttcttcagttggtggt	11	9	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:156238112C>T	ENST00000361813.5	-	8	952	c.808G>A	c.(808-810)Gag>Aag	p.E270K	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Missense_Mutation_p.E270K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	270					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCGAGTCTCACACTTCTTC	0.532																																																	0													259	254	256					1																	156238112		2203	4300	6503	SO:0001583	missense	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.808G>A	1.37:g.156238112C>T	ENSP00000355261:p.Glu270Lys		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.E270K	ENST00000361813.5	37	c.808	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000054	0.74818	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.33865	1.39;1.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.39020	1.185	0.80722	D	1	B	0.26258	0.145	B	0.34346	0.18	T	0.03148	-1.1067	10	0.36615	T	0.2	-34.7524	18.1308	0.89600	0.0:1.0:0.0:0.0	.	270	Q9UPR3	SMG5_HUMAN	K	270	ENSP00000355261:E270K;ENSP00000357250:E270K	ENSP00000355261:E270K	E	-	1	0	SMG5	154504736	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.271000	0.78506	2.865000	0.98341	0.655000	0.94253	GAG	SMG5	-	NULL		0.532	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	C	NM_015327		156238112	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156238112	C	T	156238112	3	4	97	1	0	0	0	0	1	0	0	0	14826	835	29	1	2302	1	SMG5	1	156238112	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1811085	156238112	93012509	46	13770										
C1orf92	149499	genome.wustl.edu	37	chr1	156897387	156897387	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacagctgcaaccggaccctCgtctcgctcaacctgggttt	9	16	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:156897387C>G	ENST00000337428.7	+	7	916	c.762C>G	c.(760-762)ctC>ctG	p.L254L	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	254										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACCGGACCCTCGTCTCGCTCA	0.657											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	18	17					1																	156897387		2070	4197	6267	SO:0001819	synonymous_variant	149499			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.762C>G	1.37:g.156897387C>G		1782	Q96M24	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L254	ENST00000337428.7	37	c.762	CCDS44249.1	1																																																																																			LRRC71	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.657	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	C	NM_144702		156897387	1	no_errors	ENST00000337428	ensembl	human	known	70_37	silent	SNP	0.688	G	G	156897387	C	G	156897387	2	3	97	1	0	0	0	0	0	0	0	1	2074	871	31	1		1	C1orf92	1	156897387	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	659275	156897387	92353234	47	13771										
IFI16	3428	genome.wustl.edu	37	chr1	158990292	158990292	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagaaccagatgtcaaaactGatttcagaaatgcatagttt	7	6	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:158990292G>C	ENST00000295809.7	+	6	1389	c.1134G>C	c.(1132-1134)ctG>ctC	p.L378L	IFI16_ENST00000340979.6_Silent_p.L378L|IFI16_ENST00000448393.2_Silent_p.L378L|IFI16_ENST00000359709.3_Silent_p.L322L|IFI16_ENST00000368132.3_Silent_p.L378L|IFI16_ENST00000430894.2_Silent_p.L326L|IFI16_ENST00000368131.4_Silent_p.L378L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	378	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGTCAAAACTGATTTCAGAAA	0.348																																																	0													61	71	68					1																	158990292		2203	4300	6503	SO:0001819	synonymous_variant	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1134G>C	1.37:g.158990292G>C			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.L378	ENST00000295809.7	37	c.1134		1	.	.	.	.	.	.	.	.	.	.	G	1.336	-0.595314	0.03771	.	.	ENSG00000163565	ENST00000448393	.	.	.	2.64	0.511	0.16989	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5552	0.07862	0.1651:0.267:0.5679:0.0	.	.	.	.	S	199	.	.	X	+	2	2	IFI16	157256916	0.009000	0.17119	0.001000	0.08648	0.012000	0.07955	0.687000	0.25407	-0.014000	0.14175	0.561000	0.74099	TGA	IFI16	-	pfscan_HIN200/IF120x		0.348	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		158990292	1	no_errors	ENST00000295809	ensembl	human	known	70_37	silent	SNP	0.004	C	C	158990292	G	C	158990292	2	2	97	1	0	0	0	0	0	0	0	1	7531	1277	45	1		1	IFI16	1	158990292	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2092905	158990292	90260329	48	13772										
CASQ1	844	genome.wustl.edu	37	chr1	160171065	160171065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tatggatggaaatggacgatGaggaggacctgccttctgct	14	7	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:160171065G>A	ENST00000368078.3	+	11	1286	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	RP11-536C5.7_ENST00000418602.1_RNA|CASQ1_ENST00000368079.3_Missense_Mutation_p.E358K|CASQ1_ENST00000467691.1_Missense_Mutation_p.E85K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	364	Asp-rich.				endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATGGACGATGAGGAGGACCT	0.557																																																	0													205	148	167					1																	160171065		2203	4300	6503	SO:0001583	missense	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.1090G>A	1.37:g.160171065G>A	ENSP00000357057:p.Glu364Lys		B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.E364K	ENST00000368078.3	37	c.1090	CCDS1198.2	1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037481	0.19669	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	T;T;T	0.76316	-1.01;-1.01;-1.01	4.77	3.84	0.44239	Thioredoxin-like fold (2);	0.181464	0.46442	D	0.000290	T	0.59770	0.2218	L	0.46157	1.445	0.38969	D	0.95871	P	0.44195	0.828	B	0.43478	0.421	T	0.59526	-0.7438	10	0.16896	T	0.51	.	13.2842	0.60232	0.0:0.0:0.84:0.1599	.	364	P31415	CASQ1_HUMAN	K	358;364;279;85	ENSP00000357058:E358K;ENSP00000357057:E364K;ENSP00000418051:E85K	ENSP00000357057:E364K	E	+	1	0	CASQ1	158437689	1.000000	0.71417	0.479000	0.27329	0.039000	0.13416	8.774000	0.91767	1.211000	0.43351	-0.181000	0.13052	GAG	CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin		0.557	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	G	NM_001231		160171065	1	no_errors	ENST00000368078	ensembl	human	known	70_37	missense	SNP	0.998	A	A	160171065	G	A	160171065	3	1	97	1	0	0	0	0	1	0	0	0	2685	1291	45	1	1132	1	CASQ1	1	160171065	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1180773	160171065	89079556	49	13773										
NCSTN	23385	genome.wustl.edu	37	chr1	160322992	160322992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agctttggatgcacacagatCctgtttctcagaaaaatgag	9	8	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:160322992C>T	ENST00000294785.5	+	10	1269	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Missense_Mutation_p.P244S|NCSTN_ENST00000368065.4_Missense_Mutation_p.P124S|NCSTN_ENST00000368063.1_Missense_Mutation_p.P362S|NCSTN_ENST00000392212.4_Missense_Mutation_p.P362S	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	382					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACACAGATCCTGTTTCTCA	0.493																																																	0													117	106	110					1																	160322992		2203	4300	6503	SO:0001583	missense	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1144C>T	1.37:g.160322992C>T	ENSP00000294785:p.Pro382Ser		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.P382S	ENST00000294785.5	37	c.1144	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894995	0.91962	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T;T;T	0.74106	-0.54;-0.54;-0.81;-0.54;-0.54;-0.54;-0.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82244	-0.0553	10	0.49607	T	0.09	-21.4359	18.6269	0.91344	0.0:1.0:0.0:0.0	.	244;362;382	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	S	382;362;244;244;89;362;124;126	ENSP00000294785:P382S;ENSP00000357042:P362S;ENSP00000390409:P244S;ENSP00000442605:P244S;ENSP00000376047:P362S;ENSP00000357044:P124S;ENSP00000410124:P126S	ENSP00000294785:P382S	P	+	1	0	NCSTN	158589616	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.698000	0.68302	2.735000	0.93741	0.655000	0.94253	CCT	NCSTN	-	pfam_Nicastrin		0.493	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	C	NM_015331		160322992	1	no_errors	ENST00000294785	ensembl	human	known	70_37	missense	SNP	1.000	T	T	160322992	C	T	160322992	3	4	97	1	0	0	0	0	1	0	0	0	10265	855	30	1	1182	1	NCSTN	1	160322992	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	151927	160322992	88927629	50	13774										
UAP1	6675	genome.wustl.edu	37	chr1	162569088	162569088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaagttatgtggcagataaaGaattccatgcacctctaatc	7	8	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:162569088G>A	ENST00000367925.1	+	10	1536	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	UAP1_ENST00000367926.4_Missense_Mutation_p.E485K|UAP1_ENST00000271469.3_Missense_Mutation_p.E502K|UAP1_ENST00000367924.1_Missense_Mutation_p.E501K			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	502					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGCAGATAAAGAATTCCATGC	0.368																																																	0													99	93	95					1																	162569088		2203	4300	6503	SO:0001583	missense	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1504G>A	1.37:g.162569088G>A	ENSP00000356902:p.Glu502Lys		B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	pfam_UDPGP_trans	p.E502K	ENST00000367925.1	37	c.1504		1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716573	0.48622	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.55	5.55	0.83447	.	0.108147	0.64402	D	0.000006	T	0.08758	0.0217	L	0.45581	1.43	0.43688	D	0.996133	B	0.09022	0.002	B	0.06405	0.002	T	0.11518	-1.0584	9	0.18710	T	0.47	-19.2245	18.083	0.89447	0.0:0.0:1.0:0.0	.	485	Q16222-2	.	K	485;502;502;501	ENSP00000356903:E485K;ENSP00000271469:E502K;ENSP00000356902:E502K;ENSP00000356901:E501K	ENSP00000271469:E502K	E	+	1	0	UAP1	160835712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.678000	0.91211	2.611000	0.88343	0.655000	0.94253	GAA	UAP1	-	NULL		0.368	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	G	NM_003115		162569088	1	no_errors	ENST00000271469	ensembl	human	known	70_37	missense	SNP	1.000	A	A	162569088	G	A	162569088	3	1	97	1	0	0	0	0	1	0	0	0	16856	943	33	1	1487	1	UAP1	1	162569088	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2246096	162569088	86681533	51	13775										
DDR2	4921	genome.wustl.edu	37	chr1	162745581	162745581	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atggagatctcaatcagtttCtttcccgccacgagccccct	7	15	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:162745581C>A	ENST00000367922.3	+	16	2434	c.1996C>A	c.(1996-1998)Ctt>Att	p.L666I	DDR2_ENST00000367921.3_Missense_Mutation_p.L666I|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CAATCAGTTTCTTTCCCGCCA	0.478																																					NSCLC(161;314 2006 8283 19651 23192)												0													135	131	132					1																	162745581		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1996C>A	1.37:g.162745581C>A	ENSP00000356899:p.Leu666Ile		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L666I	ENST00000367922.3	37	c.1996	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694865	0.88830	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.90788	-2.73;-2.73	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	M	0.78916	2.43	0.36890	D	0.889820	D	0.89917	1.0	D	0.97110	1.0	D	0.94696	0.7878	9	0.59425	D	0.04	.	17.6743	0.88226	0.0:1.0:0.0:0.0	.	666	Q16832	DDR2_HUMAN	I	666	ENSP00000356899:L666I;ENSP00000356898:L666I	ENSP00000356898:L666I	L	+	1	0	DDR2	161012205	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.201000	0.51059	2.555000	0.86185	0.655000	0.94253	CTT	DDR2	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162745581	1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	1.000	A	A	162745581	C	A	162745581	3	1	97	1	0	0	0	0	1	0	0	0	4342	913	32	3	2046	3	DDR2	1	162745581	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	176493	162745581	86505040	52	13776										
RCSD1	92241	genome.wustl.edu	37	chr1	167663477	167663477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gatctaggcccagcgaggcaGaggaggtgcctgtcagcttc	15	11	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:167663477G>A	ENST00000367854.3	+	5	743	c.412G>A	c.(412-414)Gag>Aag	p.E138K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E108K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	138					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAGCGAGGCAGAGGAGGTGCC	0.577																																																	0													63	58	60					1																	167663477		2203	4300	6503	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.412G>A	1.37:g.167663477G>A	ENSP00000356828:p.Glu138Lys		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	pfam_RCSD	p.E138K	ENST00000367854.3	37	c.412	CCDS1263.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579190	0.86645	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.52295	0.7;0.67	5.18	5.18	0.71444	.	0.253567	0.39146	N	0.001444	T	0.57562	0.2062	M	0.65498	2.005	0.28191	N	0.927741	D;D	0.76494	0.996;0.999	P;D	0.80764	0.877;0.994	T	0.61700	-0.7009	9	0.54805	T	0.06	-27.2974	12.9073	0.58160	0.0847:0.0:0.9153:0.0	.	108;138	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	K	138;114;108	ENSP00000356828:E138K;ENSP00000439409:E108K	ENSP00000355291:E114K	E	+	1	0	RCSD1	165930101	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	4.873000	0.63057	2.572000	0.86782	0.655000	0.94253	GAG	RCSD1	-	NULL		0.577	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	G	NM_052862		167663477	1	no_errors	ENST00000367854	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167663477	G	A	167663477	3	1	97	1	0	0	0	0	1	0	0	0	13215	943	33	1	430	1	RCSD1	1	167663477	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4917896	167663477	81587144	53	13777										
F5	2153	genome.wustl.edu	37	chr1	169509975	169509975	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggaggaggtgatatctggctGagatccgggagaagggtggt	20	4	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:169509975G>T	ENST00000367797.3	-	13	4554	c.4353C>A	c.(4351-4353)ctC>ctA	p.L1451L	F5_ENST00000367796.3_Silent_p.L1456L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1451	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATATCTGGCTGAGATCCGGGA	0.468																																																	0													78	82	81					1																	169509975		2203	4300	6503	SO:0001819	synonymous_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4353C>A	1.37:g.169509975G>T			A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1456	ENST00000367797.3	37	c.4368	CCDS1281.1	1																																																																																			F5	-	NULL		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169509975	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	silent	SNP	0.000	T	T	169509975	G	T	169509975	2	4	97	1	0	0	0	0	0	0	0	1	5360	1277	45	3		3	F5	1	169509975	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1846498	169509975	79740646	54	13778										
KIFAP3	22920	genome.wustl.edu	37	chr1	170001044	170001044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tacctcgtaatagctgttccTgttttaccacaagcccctgg	7	13	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:170001044T>C	ENST00000361580.2	-	8	1051	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197R|KIFAP3_ENST00000367765.1_Missense_Mutation_p.Q235R|KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231R	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	275					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCTGTTCCTGTTTTACCAC	0.348																																																	0													188	193	191					1																	170001044		2202	4299	6501	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.824A>G	1.37:g.170001044T>C	ENSP00000354560:p.Gln275Arg		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q275R	ENST00000361580.2	37	c.824	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550459	0.86127	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.86097	2.795	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.74917	-0.3501	9	.	.	.	-14.2731	15.4307	0.75092	0.0:0.0:0.0:1.0	.	275	Q92845	KIFA3_HUMAN	R	275;235;231;197	ENSP00000354560:Q275R;ENSP00000356739:Q235R;ENSP00000356741:Q231R;ENSP00000444622:Q197R	.	Q	-	2	0	KIFAP3	168267668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.461000	0.80834	2.125000	0.65367	0.459000	0.35465	CAG	KIFAP3	-	superfamily_ARM-type_fold		0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	T	NM_014970		170001044	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170001044	T	C	170001044	3	2	97	1	0	0	0	0	1	0	0	0	8331	1580	55	5	1606	5	KIFAP3	1	170001044	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	491069	170001044	79249577	55	13779										
C1orf9	51430	genome.wustl.edu	37	chr1	172560172	172560172	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaggctttcaataaaacaatCgtgaaacttcagaatacttc	5	8	2	2	rs554267635		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:172560172C>T	ENST00000263688.3	+	19	3093	c.2874C>T	c.(2872-2874)atC>atT	p.I958I	SUCO_ENST00000367723.4_Silent_p.I1109I|SUCO_ENST00000610051.1_Silent_p.I587I|SUCO_ENST00000608151.1_Silent_p.I1110I	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	958					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATAAAACAATCGTGAAACTTC	0.328													C|||	1	0.000199681	0	0	5008	,	,		16686	0		0	False		,,,				2504	0.001																0													91	95	94					1																	172560172		2203	4300	6503	SO:0001819	synonymous_variant	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2874C>T	1.37:g.172560172C>T			B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.I1110	ENST00000263688.3	37	c.3330	CCDS1303.1	1																																																																																			SUCO	-	NULL		0.328	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	C	NM_016227		172560172	1	no_errors	ENST00000367723	ensembl	human	known	70_37	silent	SNP	0.999	T	T	172560172	C	T	172560172	2	4	97	1	0	0	0	0	0	0	0	1	2072	874	31	1		1	C1orf9	1	172560172	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2559128	172560172	76690449	56	13780										
CEP350	9857	genome.wustl.edu	37	chr1	180017795	180017795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggttcagactgctgcagatGattctctacgaagtgatagt	11	7	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:180017795G>A	ENST00000367607.3	+	22	5165	c.4747G>A	c.(4747-4749)Gat>Aat	p.D1583N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1583					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCTGCAGATGATTCTCTACG	0.368																																																	0													111	108	109					1																	180017795		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4747G>A	1.37:g.180017795G>A	ENSP00000356579:p.Asp1583Asn		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D1583N	ENST00000367607.3	37	c.4747	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696065	0.88830	.	.	ENSG00000135837	ENST00000367607	T	0.63417	-0.04	5.54	5.54	0.83059	.	0.000000	0.45361	D	0.000367	T	0.70369	0.3216	L	0.34521	1.04	0.49687	D	0.999819	D;D	0.69078	0.997;0.963	D;P	0.77004	0.989;0.893	T	0.67554	-0.5641	9	.	.	.	.	17.2515	0.87043	0.0:0.0:1.0:0.0	.	1583;1583	E7EU22;Q5VT06	.;CE350_HUMAN	N	1583	ENSP00000356579:D1583N	.	D	+	1	0	CEP350	178284418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.553000	0.67287	2.607000	0.88179	0.557000	0.71058	GAT	CEP350	-	NULL		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180017795	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	A	A	180017795	G	A	180017795	3	1	97	1	0	0	0	0	1	0	0	0	3259	1290	45	1	4829	1	CEP350	1	180017795	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7457623	180017795	69232826	57	13781										
DHX9	1660	genome.wustl.edu	37	chr1	182845989	182845989	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttttgtccacaaatattgctGaaacaagcattaccataaac	4	9	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:182845989G>A	ENST00000367549.3	+	19	2259	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	717	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAATATTGCTGAAACAAGCAT	0.333																																					Colon(69;210 1162 3697 13559 39565)												0													71	63	65					1																	182845989		1821	4078	5899	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2149G>A	1.37:g.182845989G>A	ENSP00000356520:p.Glu717Lys		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.E717K	ENST00000367549.3	37	c.2149	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.750042	0.96890	.	.	ENSG00000135829	ENST00000367549	T	0.78246	-1.16	5.91	5.91	0.95273	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95323	0.8422	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	717	Q08211	DHX9_HUMAN	K	717	ENSP00000356520:E717K	ENSP00000356520:E717K	E	+	1	0	DHX9	181112612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.334000	0.79224	2.804000	0.96469	0.650000	0.86243	GAA	DHX9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	G	NM_030588		182845989	1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182845989	G	A	182845989	3	1	97	1	0	0	0	0	1	0	0	0	4526	1291	45	1	2219	1	DHX9	1	182845989	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2828194	182845989	66404632	58	13782										
CFHR4	3080	genome.wustl.edu	37	chr1	196884084	196884084	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catataaagtattttttttcAgattcttcagaaaagtgtgg	7	4	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:196884084A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Splice_Site|CFHR4_ENST00000367418.2_Splice_Site|CFHR4_ENST00000251424.4_Splice_Site|CFHR4_ENST00000608469.1_Splice_Site			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ATTTTTTTTCAGATTCTTCAG	0.343																																																	0													26	27	27					1																	196884084		2141	4257	6398	SO:0001627	intron_variant	10877			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34501A>C	1.37:g.196884084A>C			Q14310|Q5T9T1	Splice_Site	SNP	-	e9-2	ENST00000367421.3	37	c.1355-2		1	.	.	.	.	.	.	.	.	.	.	-	10.75	1.437371	0.25900	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.33296	D	0.564148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.045	0.30545	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFHR4	195150707	0.999000	0.42202	0.064000	0.19789	0.283000	0.27025	3.836000	0.55813	1.208000	0.43306	0.166000	0.16787	.	CFHR4	-	-		0.343	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		A	NM_005666		196884084	1	no_errors	ENST00000367416	ensembl	human	known	70_37	splice_site	SNP	0.053	C	C	196884084	A	C	196884084	1	2	97	0	1	0	0	0	0	0	0	0	3292	202	7	5		5	CFHR4	1	196884084	Intron	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	14038095	196884084	52366537	59	13783										
CFHR5	81494	genome.wustl.edu	37	chr1	196965170	196965170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agaacaagtgaaaacatgtgGatacatacctgaactcgagt	9	7	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:196965170G>A	ENST00000256785.4	+	6	918	c.809G>A	c.(808-810)gGa>gAa	p.G270E	CFHR5_ENST00000367414.5_Missense_Mutation_p.G294E			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	270	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAACATGTGGATACATACCT	0.348																																																	0													120	116	117					1																	196965170		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.809G>A	1.37:g.196965170G>A	ENSP00000256785:p.Gly270Glu		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G294E	ENST00000256785.4	37	c.881	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005046	0.35415	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65364	-0.15;-0.15	3.03	-0.566	0.11767	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71134	0.3304	M	0.82193	2.58	0.09310	N	1	P	0.51351	0.944	P	0.61397	0.888	T	0.58509	-0.7624	9	0.27082	T	0.32	.	3.803	0.08765	0.2825:0.2052:0.5124:0.0	.	270	Q9BXR6	FHR5_HUMAN	E	294;270	ENSP00000356384:G294E;ENSP00000256785:G270E	ENSP00000256785:G270E	G	+	2	0	CFHR5	195231793	0.038000	0.19896	0.009000	0.14445	0.035000	0.12851	0.111000	0.15458	-0.006000	0.14370	0.442000	0.29010	GGA	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196965170	1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.013	A	A	196965170	G	A	196965170	3	1	97	1	0	0	0	0	1	0	0	0	3293	1174	41	1	831	1	CFHR5	1	196965170	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	81086	196965170	52285451	60	13784										
ZNF281	23528	genome.wustl.edu	37	chr1	200376337	200376337	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaactgagaaccaaacgcttGtgcaaagttctcaatctgat	7	9	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:200376337G>C	ENST00000294740.3	-	2	2621	c.2497C>G	c.(2497-2499)Caa>Gaa	p.Q833E	ZNF281_ENST00000367352.3_Missense_Mutation_p.Q797E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q833E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	833					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAAACGCTTGTGCAAAGTTC	0.443																																																	0													102	104	103					1																	200376337		2203	4300	6503	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2497C>G	1.37:g.200376337G>C	ENSP00000294740:p.Gln833Glu		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q833E	ENST00000294740.3	37	c.2497	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633129	0.67015	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.13778	2.56;2.56;2.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	L	0.29908	0.895	0.80722	D	1	D;D	0.58970	0.984;0.984	D;D	0.68192	0.956;0.956	T	0.01899	-1.1251	10	0.87932	D	0	-4.5365	19.3834	0.94546	0.0:0.0:1.0:0.0	.	797;833	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	833;833;797;538	ENSP00000294740:Q833E;ENSP00000356322:Q833E;ENSP00000356321:Q797E	ENSP00000294740:Q833E	Q	-	1	0	ZNF281	198642960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.570000	0.86706	0.655000	0.94253	CAA	ZNF281	-	NULL		0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	G	NM_012482		200376337	-1	no_errors	ENST00000294740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	200376337	G	C	200376337	3	2	97	1	0	0	0	0	1	0	0	0	17848	1386	48	4	194	4	ZNF281	1	200376337	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3411167	200376337	48874284	61	13785										
KIF21B	23046	genome.wustl.edu	37	chr1	200974481	200974481	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atctggcacaggtggatggtGaagatggcgtgggagcgtga	19	5	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:200974481G>A	ENST00000422435.2	-	5	1003	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KIF21B_ENST00000332129.2_Silent_p.F229F|KIF21B_ENST00000461742.2_Silent_p.F229F|KIF21B_ENST00000360529.5_Silent_p.F229F	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	229	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGATGGTGAAGATGGCGT	0.647																																																	0													100	87	92					1																	200974481		2203	4300	6503	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.687C>T	1.37:g.200974481G>A			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.F229	ENST00000422435.2	37	c.687	CCDS58056.1	1																																																																																			KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	G	XM_371332		200974481	-1	no_errors	ENST00000422435	ensembl	human	known	70_37	silent	SNP	1.000	A	A	200974481	G	A	200974481	2	1	97	1	0	0	0	0	0	0	0	1	8309	1281	45	1		1	KIF21B	1	200974481	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	598144	200974481	48276140	62	13786										
IGFN1	91156	genome.wustl.edu	37	chr1	201180949	201180949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gttctaggggtagtttggagGattctgggtacattttgtca	14	4	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:201180949G>C	ENST00000335211.4	+	12	7058	c.6928G>C	c.(6928-6930)Gat>Cat	p.D2310H	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAGTTTGGAGGATTCTGGGTA	0.498																																																	0													47	38	40					1																	201180949		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.6928G>C	1.37:g.201180949G>C	ENSP00000334714:p.Asp2310His		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D2310H	ENST00000335211.4	37	c.6928	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	2.720	-0.266746	0.05754	.	.	ENSG00000163395	ENST00000335211	T	0.52295	0.67	1.74	0.601	0.17529	.	.	.	.	.	T	0.24160	0.0585	N	0.08118	0	0.09310	N	0.999992	.	.	.	.	.	.	T	0.23297	-1.0192	6	.	.	.	.	7.9018	0.29740	0.0:0.3419:0.6581:0.0	.	.	.	.	H	2310	ENSP00000334714:D2310H	.	D	+	1	0	IGFN1	199447572	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-0.221000	0.09202	-0.082000	0.12640	0.187000	0.17357	GAT	IGFN1	-	NULL		0.498	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201180949	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.003	C	C	201180949	G	C	201180949	3	2	97	1	0	0	0	0	1	0	0	0	7610	1174	41	1	6970	1	IGFN1	1	201180949	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	206468	201180949	48069672	63	13787										
NFASC	23114	genome.wustl.edu	37	chr1	204970376	204970376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catcacctggaagcacaattTcgggcccggaactgactttg	10	12	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:204970376T>C	ENST00000401399.1	+	25	3297	c.3098T>C	c.(3097-3099)tTc>tCc	p.F1033S	NFASC_ENST00000367170.4_Missense_Mutation_p.F1061S|NFASC_ENST00000339876.6_Missense_Mutation_p.F1033S|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.F1140S|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.F1125S|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1140	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCACAATTTCGGGCCCGGA	0.587																																																	0													87	76	79					1																	204970376		1567	3582	5149	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3098T>C	1.37:g.204970376T>C	ENSP00000385637:p.Phe1033Ser		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1140S	ENST00000401399.1	37	c.3419	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451251	0.43531	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.39	5.39	0.77823	.	0.522022	0.17533	N	0.170815	T	0.47857	0.1468	L	0.47716	1.5	0.80722	D	1	B	0.34015	0.435	B	0.38842	0.283	T	0.35847	-0.9772	10	0.21014	T	0.42	.	11.1517	0.48462	0.1378:0.0:0.0:0.8622	.	1033	O94856-9	.	S	1140;1125;1061;1033;1033	ENSP00000356140:F1140S;ENSP00000356139:F1125S;ENSP00000356138:F1061S;ENSP00000344786:F1033S;ENSP00000385637:F1033S	ENSP00000344786:F1033S	F	+	2	0	NFASC	203236999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.246000	0.58740	2.054000	0.61138	0.533000	0.62120	TTC	NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	T	NM_001005388		204970376	1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	C	C	204970376	T	C	204970376	3	2	97	1	0	0	0	0	1	0	0	0	10383	1783	62	5	3605	5	NFASC	1	204970376	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	3789427	204970376	44280245	64	13788										
C4BPA	722	genome.wustl.edu	37	chr1	207307836	207307836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caatcactgtgtttatttctAtggagatgagatttcatttt	7	5	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:207307836A>G	ENST00000367070.3	+	9	1366	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	391	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTTATTTCTATGGAGATGAG	0.418																																																	0													180	165	170					1																	207307836		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1172A>G	1.37:g.207307836A>G	ENSP00000356037:p.Tyr391Cys		Q5VVQ8	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y391C	ENST00000367070.3	37	c.1172	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.484234	0.63962	.	.	ENSG00000123838	ENST00000367070	T	0.66815	-0.23	4.77	-9.53	0.00575	Complement control module (2);Sushi/SCR/CCP (3);	1.890110	0.02572	N	0.097857	T	0.77308	0.4111	M	0.86178	2.8	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.77230	-0.2664	10	0.52906	T	0.07	.	4.3911	0.11341	0.1464:0.1968:0.0733:0.5836	.	391	P04003	C4BPA_HUMAN	C	391	ENSP00000356037:Y391C	ENSP00000356037:Y391C	Y	+	2	0	C4BPA	205374459	0.000000	0.05858	0.000000	0.03702	0.767000	0.43475	-2.076000	0.01373	-1.990000	0.00978	0.482000	0.46254	TAT	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.418	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	A			207307836	1	no_errors	ENST00000367070	ensembl	human	known	70_37	missense	SNP	0.000	G	G	207307836	A	G	207307836	3	3	97	1	0	0	0	0	1	0	0	0	2254	449	16	5	1202	5	C4BPA	1	207307836	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	2337460	207307836	41942785	65	13789										
CR1	1378	genome.wustl.edu	37	chr1	207697084	207697084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcggagggagaaaggtgtttGagcttgtgggtgagccctcc	18	7	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:207697084G>C	ENST00000367049.4	+	5	616	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	CR1_ENST00000367053.1_Missense_Mutation_p.E206Q|CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.E206Q|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.E206Q	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAAGGTGTTTGAGCTTGTGGG	0.512																																																	0													23	20	21					1																	207697084		1772	4029	5801	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.616G>C	1.37:g.207697084G>C	ENSP00000356016:p.Glu206Gln		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E206Q	ENST00000367049.4	37	c.616	CCDS44308.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.745|7.745	0.702174|0.702174	0.15172|0.15172	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11|.	4.23|4.23	-1.47|-1.47	0.08772|0.08772	Complement control module (2);Sushi/SCR/CCP (3);|.	.|.	.|.	.|.	.|.	T|T	0.29620|0.29620	0.0739|0.0739	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P;D;P;P;P|.	0.58620|.	0.792;0.983;0.533;0.726;0.566|.	B;D;P;B;B|.	0.65443|.	0.29;0.935;0.638;0.166;0.166|.	T|T	0.28808|0.28808	-1.0032|-1.0032	9|5	0.39692|.	T|.	0.17|.	.|.	4.0755|4.0755	0.09902|0.09902	0.3179:0.344:0.3381:0.0|0.3179:0.344:0.3381:0.0	.|.	656;206;181;206;206|.	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4|.	.;.;.;CR1_HUMAN;.|.	Q|F	206|181	ENSP00000356019:E206Q;ENSP00000356020:E206Q;ENSP00000383744:E206Q;ENSP00000436139:E206Q;ENSP00000356016:E206Q|.	ENSP00000356016:E206Q|.	E|L	+|+	1|3	0|2	CR1|CR1	205763707|205763707	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.080000|0.080000	0.17528|0.17528	-1.169000|-1.169000	0.03120|0.03120	-0.325000|-0.325000	0.08577|0.08577	0.467000|0.467000	0.42956|0.42956	GAG|TTG	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.512	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	G	NM_000573		207697084	1	no_errors	ENST00000367049	ensembl	human	known	70_37	missense	SNP	0.012	C	C	207697084	G	C	207697084	3	2	97	1	0	0	0	0	1	0	0	0	3845	1291	45	1	634	1	CR1	1	207697084	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	389248	207697084	41553537	66	13790										
CR1L	1379	genome.wustl.edu	37	chr1	207871117	207871117	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgtttttctttttttccagtGaaatcctgtgatgacttcct	6	9	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:207871117G>A	ENST00000508064.2	+	7	1101	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	347	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTTCCAGTGAAATCCTGTG	0.403																																																	0													249	227	234					1																	207871117		1851	4083	5934	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1040-1G>A	1.37:g.207871117G>A			Q32MC9|Q8NEU7	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V347	ENST00000508064.2	37	c.1041	CCDS44310.1	1																																																																																			CR1L	-	pfscan_Sushi_SCR_CCP		0.403	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	G	XM_114735	Silent	207871117	1	no_errors	ENST00000508064	ensembl	human	known	70_37	silent	SNP	0.039	A	A	207871117	G	A	207871117	5	1	97	1	0	0	0	0	0	0	1	0	3846	1304	45	1	1067	1	CR1L	1	207871117	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	174033	207871117	41379504	67	13791										
LAMB3	3914	genome.wustl.edu	37	chr1	209807944	209807944	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcgccaggtcttaccgaagtCtgaggagcgctcaatcagca	11	12	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:209807944C>T	ENST00000356082.4	-	6	546	c.412G>A	c.(412-414)Gac>Aac	p.D138N	LAMB3_ENST00000391911.1_Missense_Mutation_p.D138N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D138N	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	138	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TTACCGAAGTCTGAGGAGCGC	0.662																																																	0													54	45	48					1																	209807944		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.412G>A	1.37:g.209807944C>T	ENSP00000348384:p.Asp138Asn		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.D138N	ENST00000356082.4	37	c.412	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.391311	0.95988	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.42	4.42	0.53409	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93035	0.7783	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94852	0.8014	10	0.87932	D	0	.	16.8917	0.86089	0.0:1.0:0.0:0.0	.	138	Q13751	LAMB3_HUMAN	N	138	ENSP00000375778:D138N;ENSP00000348384:D138N;ENSP00000355997:D138N;ENSP00000388960:D138N	ENSP00000348384:D138N	D	-	1	0	LAMB3	207874567	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	5.250000	0.65432	2.310000	0.77875	0.558000	0.71614	GAC	LAMB3	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.662	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209807944	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	0.999	T	T	209807944	C	T	209807944	3	4	97	1	0	0	0	0	1	0	0	0	8632	913	32	1	3178	1	LAMB3	1	209807944	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1936827	209807944	39442677	68	13792										
OBSCN	84033	genome.wustl.edu	37	chr1	228494860	228494860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcagagcatggccagcctctCtgtccgtggtgagctgctca	13	13	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:228494860C>T	ENST00000422127.1	+	45	12229	c.12185C>T	c.(12184-12186)tCt>tTt	p.S4062F	OBSCN_ENST00000284548.11_Missense_Mutation_p.S4062F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S5019F|OBSCN_ENST00000366709.4_Missense_Mutation_p.S1181F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S1696F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4062	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAGCCTCTCTGTCCGTGGT	0.632																																																	0													51	65	60					1																	228494860		2185	4276	6461	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12185C>T	1.37:g.228494860C>T	ENSP00000409493:p.Ser4062Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S4062F	ENST00000422127.1	37	c.12185	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971310	0.34754	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.81	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.345964	0.24412	N	0.038741	T	0.09247	0.0228	L	0.53617	1.68	0.09310	N	1	D;D	0.71674	0.998;0.987	D;P	0.66196	0.942;0.782	T	0.21518	-1.0243	10	0.09590	T	0.72	.	2.2515	0.04044	0.2613:0.4581:0.1272:0.1534	.	4062;4062	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	4062;4062;1696;1181	ENSP00000284548:S4062F;ENSP00000409493:S4062F;ENSP00000355668:S1696F;ENSP00000355670:S1181F	ENSP00000284548:S4062F	S	+	2	0	OBSCN	226561483	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.737000	0.01843	0.308000	0.22923	0.462000	0.41574	TCT	OBSCN	-	smart_Ig_sub,pfscan_Ig-like		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228494860	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	T	T	228494860	C	T	228494860	3	4	97	1	0	0	0	0	1	0	0	0	10836	913	32	1	12359	1	OBSCN	1	228494860	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	18686916	228494860	20755761	69	13793										
RYR2	6262	genome.wustl.edu	37	chr1	237947390	237947390	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaattagcagagagcgtcctGaattatttccagccctttct	8	10	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:237947390G>A	ENST00000366574.2	+	90	12695	c.12378G>A	c.(12376-12378)ctG>ctA	p.L4126L	RYR2_ENST00000542537.1_Silent_p.L4110L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L4132L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4126					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGCGTCCTGAATTATTTCC	0.512																																																	0													63	63	63					1																	237947390		1910	4136	6046	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12378G>A	1.37:g.237947390G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L4132	ENST00000366574.2	37	c.12396	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237947390	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	0.990	A	A	237947390	G	A	237947390	2	1	97	1	0	0	0	0	0	0	0	1	13799	1277	45	1		1	RYR2	1	237947390	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	9452530	237947390	11303231	70	13794										
OR2G2	81470	genome.wustl.edu	37	chr1	247752384	247752384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accaggagacagaaagcattCgggacctgcttctcccacct	9	14	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:247752384C>T	ENST00000320065.1	+	1	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAGCATTCGGGACCTGCT	0.502																																																	0													143	129	134					1																	247752384		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.723C>T	1.37:g.247752384C>T			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F241	ENST00000320065.1	37	c.723	CCDS31092.1	1																																																																																			OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	C			247752384	1	no_errors	ENST00000320065	ensembl	human	known	70_37	silent	SNP	0.000	T	T	247752384	C	T	247752384	2	4	97	1	0	0	0	0	0	0	0	1	11022	883	31	1		1	OR2G2	1	247752384	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9804994	247752384	1498237	71	13795										
OR2L8	391190	genome.wustl.edu	37	chr1	248112345	248112345	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acacccatgtatttcctactGagtcagctctccctcattga	5	14	3	2	rs567135028		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248112345G>C	ENST00000357191.3	+	1	186	c.186G>C	c.(184-186)ctG>ctC	p.L62L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATTTCCTACTGAGTCAGCTCT	0.423																																																	0													383	334	351					1																	248112345		2203	4300	6503	SO:0001819	synonymous_variant	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.186G>C	1.37:g.248112345G>C			Q6IF03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L62	ENST00000357191.3	37	c.186	CCDS31101.1	1																																																																																			OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.423	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	G			248112345	1	no_errors	ENST00000357191	ensembl	human	known	70_37	silent	SNP	0.000	C	C	248112345	G	C	248112345	2	2	97	1	0	0	0	0	0	0	0	1	11033	1277	45	1		1	OR2L8	1	248112345	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	359961	248112345	1138276	72	13796										
OR2AK2	391191	genome.wustl.edu	37	chr1	248129394	248129394	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggacaggcaaaagctgtttCcacttgttcctcccacctga	8	13	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248129394C>G	ENST00000366480.3	+	1	860	c.761C>G	c.(760-762)tCc>tGc	p.S254C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AAAGCTGTTTCCACTTGTTCC	0.488																																					Melanoma(45;390 1181 23848 28461 41504)												0													179	143	155					1																	248129394		2203	4300	6503	SO:0001583	missense	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.761C>G	1.37:g.248129394C>G	ENSP00000355436:p.Ser254Cys		B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S254C	ENST00000366480.3	37	c.761	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	9.868	1.198279	0.22037	.	.	ENSG00000187080	ENST00000366480	T	0.00314	8.14	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	H	0.97365	3.99	0.09310	N	1	P	0.36010	0.532	B	0.42692	0.395	T	0.10337	-1.0634	9	0.87932	D	0	.	7.9267	0.29878	0.0:0.7817:0.0:0.2183	.	254	Q8NG84	O2AK2_HUMAN	C	254	ENSP00000355436:S254C	ENSP00000355436:S254C	S	+	2	0	OR2AK2	246196017	0.001000	0.12720	0.001000	0.08648	0.191000	0.23601	0.453000	0.21811	0.588000	0.29660	0.462000	0.41574	TCC	OR2AK2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	C	NM_001004491		248129394	1	no_errors	ENST00000366480	ensembl	human	known	70_37	missense	SNP	0.091	G	G	248129394	C	G	248129394	3	3	97	1	0	0	0	0	1	0	0	0	11010	855	30	1	763	1	OR2AK2	1	248129394	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	17049	248129394	1121227	73	13797										
OR2M5	127059	genome.wustl.edu	37	chr1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catgggatctggagagggtcGtcgcaaagcttttactacct	12	9	1	1	rs147580819		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463													g|||	1	0.000199681	0	0	5008	,	,		21867	0		0.001	False		,,,				2504	0																0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	259	244	249		701	1.3	0	1	dbSNP_134	249	0,8600		0,0,4300	no	missense	OR2M5	NM_001004690.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	234/313	248309150	1,13005	2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.701G>A	1.37:g.248309150G>A	ENSP00000355432:p.Arg234His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R234H	ENST00000366476.1	37	c.701	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT	OR2M5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	G	NM_001004690		248309150	1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.001	A	A	248309150	G	A	248309150	3	1	97	1	0	0	0	0	1	0	0	0	11037	1145	40	2	703	2	OR2M5	1	248309150	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	179756	248309150	941471	74	13798										
OR2T1	26696	genome.wustl.edu	37	chr1	248569550	248569550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gccatcatctctatcatcttCttcaccgcactgatggccaa	5	15	6	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248569550C>T	ENST00000366474.1	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATCATCTTCTTCACCGCAC	0.448																																																	0													160	146	150					1																	248569550		2203	4300	6503	SO:0001819	synonymous_variant	26696			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.255C>T	1.37:g.248569550C>T			Q6IEZ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F85	ENST00000366474.1	37	c.255	CCDS31115.1	1																																																																																			OR2T1	-	prints_GPCR_Rhodpsn		0.448	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	HGNC	protein_coding	OTTHUMT00000097346.2	C			248569550	1	no_errors	ENST00000366474	ensembl	human	known	70_37	silent	SNP	0.090	T	T	248569550	C	T	248569550	2	4	97	1	0	0	0	0	0	0	0	1	11040	912	32	1		1	OR2T1	1	248569550	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	260400	248569550	681071	75	13799										
ADAM17	6868	genome.wustl.edu	37	chr2	9667992	9667992	+	Missense_Mutation	SNP	G	G	A													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttaaataaccacacacttttGgagactgcaaacgtgaaaca							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:9667992G>A	ENST00000310823.3	-	5	724	c.542C>T	c.(541-543)cCa>cTa	p.P181L	ADAM17_ENST00000497134.1_Missense_Mutation_p.P181L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	181					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACACACTTTTGGAGACTGCAA	0.348																																																	0													126	127	126					2																	9667992		2203	4298	6501	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.542C>T	2.37:g.9667992G>A	ENSP00000309968:p.Pro181Leu		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.P181L	ENST00000310823.3	37	c.542	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936519	0.73442	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.66460	1.95;-0.21	5.21	5.21	0.72293	.	0.110719	0.64402	D	0.000006	T	0.74854	0.3771	L	0.61218	1.895	0.80722	D	1	D;B;D;B	0.61697	0.99;0.004;0.983;0.004	P;B;P;B	0.53809	0.735;0.025;0.735;0.025	T	0.73777	-0.3876	10	0.36615	T	0.2	.	19.1248	0.93378	0.0:0.0:1.0:0.0	.	181;181;181;181	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	181	ENSP00000309968:P181L;ENSP00000418728:P181L	ENSP00000309968:P181L	P	-	2	0	ADAM17	9585443	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.887000	0.92456	2.573000	0.86826	0.467000	0.42956	CCA	ADAM17	-	NULL		0.348	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9667992	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9667992	G	A	9667992	3	1	97	1	0	0	0	0	1	0	0	0	238	1348	47	4	1992	4	ADAM17	2	9667992	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		9667992	233531381	76	13800	74	3								
ADAM17	6868	genome.wustl.edu	37	chr2	9667999	9667999	+	Nonsense_Mutation	SNP	G	G	A													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accacacacttttggagactGcaaacgtgaaacattcttga							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:9667999G>A	ENST00000310823.3	-	5	717	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	ADAM17_ENST00000497134.1_Nonsense_Mutation_p.Q179*	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	179					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTTGGAGACTGCAAACGTGAA	0.338																																																	0													125	125	125					2																	9667999		2203	4298	6501	SO:0001587	stop_gained	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.535C>T	2.37:g.9667999G>A	ENSP00000309968:p.Gln179*		O60226	Nonsense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.Q179*	ENST00000310823.3	37	c.535	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.132664	0.94517	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	.	.	.	5.48	5.48	0.80851	.	0.385119	0.29438	N	0.012145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5378	0.67973	0.0:0.0:0.8535:0.1464	.	.	.	.	X	179	.	ENSP00000309968:Q179X	Q	-	1	0	ADAM17	9585450	0.976000	0.34144	1.000000	0.80357	0.988000	0.76386	1.999000	0.40806	2.722000	0.93159	0.467000	0.42956	CAG	ADAM17	-	NULL		0.338	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9667999	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	9667999	G	A	9667999	4	1	97	1	0	0	0	0	0	1	0	0	238	1328	46	4	1999	4	ADAM17	2	9667999	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7	9667999	233531374	77	13801	74	3								
ADAM17	6868	genome.wustl.edu	37	chr2	9668007	9668007	+	Missense_Mutation	SNP	G	G	A													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttttggagactgcaaacgtGaaacattcttgatatcttca							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:9668007G>A	ENST00000310823.3	-	5	709	c.527C>T	c.(526-528)tCa>tTa	p.S176L	ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	176					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTGCAAACGTGAAACATTCTT	0.343																																																	0													118	117	117					2																	9668007		2203	4298	6501	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.527C>T	2.37:g.9668007G>A	ENSP00000309968:p.Ser176Leu		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.S176L	ENST00000310823.3	37	c.527	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779033	0.70107	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.65916	1.92;-0.18	5.48	5.48	0.80851	.	0.112555	0.64402	D	0.000011	T	0.75213	0.3819	L	0.59436	1.845	0.54753	D	0.999987	D;B;D;B	0.89917	1.0;0.255;1.0;0.255	D;B;D;B	0.85130	0.997;0.046;0.997;0.046	T	0.67300	-0.5705	10	0.11794	T	0.64	.	19.7057	0.96071	0.0:0.0:1.0:0.0	.	176;176;176;176	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	176	ENSP00000309968:S176L;ENSP00000418728:S176L	ENSP00000309968:S176L	S	-	2	0	ADAM17	9585458	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.551000	0.73909	2.722000	0.93159	0.467000	0.42956	TCA	ADAM17	-	NULL		0.343	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9668007	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9668007	G	A	9668007	3	1	97	1	0	0	0	0	1	0	0	0	238	1294	45	1	2007	1	ADAM17	2	9668007	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8	9668007	233531366	78	13802	74	3								
RRM2	6241	genome.wustl.edu	37	chr2	10263582	10263582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaaaacccccgccgctttgtCatcttccccatcgagtacca	6	17	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:10263582C>T	ENST00000304567.5	+	3	312	c.243C>T	c.(241-243)gtC>gtT	p.V81V	RRM2_ENST00000360566.2_Silent_p.V141V|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	81					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	GCCGCTTTGTCATCTTCCCCA	0.527																																																	0													49	57	54					2																	10263582		2203	4300	6503	SO:0001819	synonymous_variant	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.243C>T	2.37:g.10263582C>T			B2R9B5|J3KP43|Q5WRU7	Silent	SNP	pfam_RNR_small,superfamily_Ferritin/RNR-like	p.V141	ENST00000304567.5	37	c.423	CCDS1669.1	2																																																																																			RRM2	-	pfam_RNR_small,superfamily_Ferritin/RNR-like		0.527	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2	HGNC	protein_coding	OTTHUMT00000364902.2	C			10263582	1	no_errors	ENST00000360566	ensembl	human	known	70_37	silent	SNP	0.999	T	T	10263582	C	T	10263582	2	4	97	1	0	0	0	0	0	0	0	1	13712	813	29	1		1	RRM2	2	10263582	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	595575	10263582	232935791	79	13803										
FAM49A	81553	genome.wustl.edu	37	chr2	16740741	16740741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcttacatcgatcttggatGtcttgcagaaagctcccaca	7	11	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:16740741G>A	ENST00000381323.3	-	10	1044	c.824C>T	c.(823-825)aCa>aTa	p.T275I	FAM49A_ENST00000355549.2_Missense_Mutation_p.T275I|FAM49A_ENST00000406434.1_Missense_Mutation_p.T275I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	275						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GATCTTGGATGTCTTGCAGAA	0.478																																																	0													148	139	142					2																	16740741		2203	4300	6503	SO:0001583	missense	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.824C>T	2.37:g.16740741G>A	ENSP00000370724:p.Thr275Ile		B3KNZ1|Q53QW2	Missense_Mutation	SNP	pfam_DUF1394	p.T275I	ENST00000381323.3	37	c.824	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963802	0.53507	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.47528	0.84;0.84;0.84	5.23	5.23	0.72850	.	0.046786	0.85682	D	0.000000	T	0.54951	0.1890	L	0.56769	1.78	0.54753	D	0.999983	B	0.26483	0.15	B	0.38655	0.278	T	0.55617	-0.8113	10	0.52906	T	0.07	-7.1236	18.1646	0.89721	0.0:0.0:1.0:0.0	.	275	Q9H0Q0	FA49A_HUMAN	I	275	ENSP00000370724:T275I;ENSP00000384771:T275I;ENSP00000347744:T275I	ENSP00000347744:T275I	T	-	2	0	FAM49A	16604222	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	9.808000	0.99193	2.611000	0.88343	0.655000	0.94253	ACA	FAM49A	-	pfam_DUF1394		0.478	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	G	NM_030797		16740741	-1	no_errors	ENST00000355549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16740741	G	A	16740741	3	1	97	1	0	0	0	0	1	0	0	0	5593	1377	48	4	159	4	FAM49A	2	16740741	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6477159	16740741	226458632	80	13804										
MFSD2B	388931	genome.wustl.edu	37	chr2	24247121	24247121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acacccagtcgggacgcctcCagccggctgagccttcggag	13	16	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:24247121C>T	ENST00000406420.3	+	13	1486	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	MFSD2B_ENST00000338315.4_Silent_p.S490S	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	490					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GGGACGCCTCCAGCCGGCTGA	0.637																																																	0													29	33	32					2																	24247121		2048	4179	6227	SO:0001819	synonymous_variant	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1470C>T	2.37:g.24247121C>T			B5MC32	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.S490	ENST00000406420.3	37	c.1470	CCDS46228.1	2																																																																																			MFSD2B	-	NULL		0.637	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	C	NM_001080473		24247121	1	no_errors	ENST00000338315	ensembl	human	known	70_37	silent	SNP	0.070	T	T	24247121	C	T	24247121	2	4	97	1	0	0	0	0	0	0	0	1	9554	581	21	4		4	MFSD2B	2	24247121	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7506380	24247121	218952252	81	13805										
DNMT3A	1788	genome.wustl.edu	37	chr2	25469057	25469057	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgctcatcaataatctccttGaccttgggcttctccgctgt	7	14	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:25469057G>A	ENST00000264709.3	-	11	1738	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	DNMT3A_ENST00000380746.4_Silent_p.V278V|DNMT3A_ENST00000402667.1_Silent_p.V244V|DNMT3A_ENST00000321117.5_Silent_p.V467V|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	467					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATCTCCTTGACCTTGGGCT	0.602			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													143	141	142					2																	25469057		2203	4300	6503	SO:0001819	synonymous_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1401C>T	2.37:g.25469057G>A			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.V467	ENST00000264709.3	37	c.1401	CCDS33157.1	2																																																																																			DNMT3A	-	NULL		0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25469057	-1	no_errors	ENST00000264709	ensembl	human	known	70_37	silent	SNP	1.000	A	A	25469057	G	A	25469057	2	1	97	1	0	0	0	0	0	0	0	1	4686	1277	45	1		1	DNMT3A	2	25469057	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1221936	25469057	217730316	82	13806										
SLC5A6	8884	genome.wustl.edu	37	chr2	27424683	27424683	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgccaatccagaaggccatGacgagcccagccaacaggcc	10	15	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27424683G>C	ENST00000310574.3	-	14	1868	c.1395C>G	c.(1393-1395)gtC>gtG	p.V465V	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.V465V	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	465					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGAAGGCCATGACGAGCCCAG	0.627																																																	0													87	72	77					2																	27424683		2203	4300	6503	SO:0001819	synonymous_variant	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1395C>G	2.37:g.27424683G>C			B2RB85|D6W549|Q969Y5	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V465	ENST00000310574.3	37	c.1395	CCDS1740.1	2																																																																																			SLC5A6	-	pfscan_Na/solute_symporter		0.627	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27424683	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	silent	SNP	0.994	C	C	27424683	G	C	27424683	2	2	97	1	0	0	0	0	0	0	0	1	14699	1277	45	1		1	SLC5A6	2	27424683	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1955626	27424683	215774690	83	13807										
CAD	790	genome.wustl.edu	37	chr2	27459279	27459279	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgtcaatgcgtggagctgGgggccggcgtctctcttcct	14	13	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27459279G>C	ENST00000403525.1	+	25	4157	c.4013G>C	c.(4012-4014)gGg>gCg	p.G1338A	CAD_ENST00000264705.4_Missense_Mutation_p.G1401A			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGAGCTGGGGGCCGGCGT	0.572																																																	0													83	80	81					2																	27459279		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4013G>C	2.37:g.27459279G>C	ENSP00000384510:p.Gly1338Ala		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.G1401A	ENST00000403525.1	37	c.4202		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997441|3.997441	0.74818|0.74818	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|T	0.79845|0.81330	-1.31;-1.31|-1.48	5.03|5.03	5.03|5.03	0.67393|0.67393	Methylglyoxal synthase-like domain (4);|.	0.097920|0.097920	0.64402|0.64402	D|N	0.000001|0.000001	T|T	0.80065|0.80065	0.4555|0.4555	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	P;D|.	0.67145|.	0.765;0.996|.	B;P|.	0.62382|.	0.406;0.901|.	T|T	0.79841|0.79841	-0.1633|-0.1633	10|8	0.30854|0.41790	T|T	0.27|0.15	-13.1912|-13.1912	17.2725|17.2725	0.87106|0.87106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1338;1401|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	A|R	1401;1338|46	ENSP00000264705:G1401A;ENSP00000384510:G1338A|ENSP00000414742:G46R	ENSP00000264705:G1401A|ENSP00000414742:G46R	G|G	+|+	2|1	0|0	CAD|CAD	27312783|27312783	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.950000|0.950000	0.60333|0.60333	8.983000|8.983000	0.93477|0.93477	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GGG|GGG	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27459279	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27459279	G	C	27459279	3	2	97	1	0	0	0	0	1	0	0	0	2570	1232	43	4	4304	4	CAD	2	27459279	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	34596	27459279	215740094	84	13808										
NRBP1	29959	genome.wustl.edu	37	chr2	27663526	27663526	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttttctcgtccaggtactctCagtcaccagctctggaatta	7	12	4	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27663526C>G	ENST00000233557.3	+	14	1982	c.1150C>G	c.(1150-1152)Cag>Gag	p.Q384E	NRBP1_ENST00000379863.3_Missense_Mutation_p.Q392E|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.Q384E			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	384					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAGGTACTCTCAGTCACCAGC	0.458																																																	0													97	90	92					2																	27663526		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1150C>G	2.37:g.27663526C>G	ENSP00000233557:p.Gln384Glu		B3KV40|D6W558|Q53FZ5|Q96SU3	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.Q384E	ENST00000233557.3	37	c.1150	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572353	0.13623	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.37235	1.21;1.21;1.21	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.33189	0.99	0.80722	D	1	B;B;B	0.22414	0.02;0.069;0.041	B;B;B	0.20384	0.017;0.029;0.013	T	0.11567	-1.0582	10	0.06757	T	0.87	-15.1969	19.2286	0.93827	0.0:1.0:0.0:0.0	.	364;392;384	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	E	384;364;384;392	ENSP00000233557:Q384E;ENSP00000369181:Q384E;ENSP00000369192:Q392E	ENSP00000233557:Q384E	Q	+	1	0	NRBP1	27517030	1.000000	0.71417	0.998000	0.56505	0.679000	0.39708	6.985000	0.76193	2.890000	0.99128	0.655000	0.94253	CAG	NRBP1	-	NULL		0.458	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	C	NM_013392		27663526	1	no_errors	ENST00000233557	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27663526	C	G	27663526	3	3	97	1	0	0	0	0	1	0	0	0	10666	827	29	1	1196	1	NRBP1	2	27663526	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	204247	27663526	215535847	85	13809										
LRPPRC	10128	genome.wustl.edu	37	chr2	44175581	44175581	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agctgatggaagtattgtctCaaatgctcctccttggcctg	10	10	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44175581C>T	ENST00000260665.7	-	17	1869	c.1812G>A	c.(1810-1812)ttG>ttA	p.L604L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	604					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTATTGTCTCAAATGCTCCT	0.398																																																	0													128	113	118					2																	44175581		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1812G>A	2.37:g.44175581C>T			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.L604	ENST00000260665.7	37	c.1812	CCDS33189.1	2																																																																																			LRPPRC	-	NULL		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44175581	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44175581	C	T	44175581	2	4	97	1	0	0	0	0	0	0	0	1	8988	825	29	1		1	LRPPRC	2	44175581	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	16512055	44175581	199023792	86	13810										
LRPPRC	10128	genome.wustl.edu	37	chr2	44175607	44175607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcctccttggcctgtacctCtgagtcactcatgctgtcaa	7	15	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44175607C>G	ENST00000260665.7	-	17	1843	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	596					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCTGTACCTCTGAGTCACTC	0.413																																																	0													114	103	107					2																	44175607		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1786G>C	2.37:g.44175607C>G	ENSP00000260665:p.Glu596Gln		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E596Q	ENST00000260665.7	37	c.1786	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783627	0.70222	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.57107	0.42	5.72	5.72	0.89469	.	0.047932	0.85682	D	0.000000	T	0.73853	0.3640	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.909;1.0	P;D	0.83275	0.58;0.996	T	0.67185	-0.5734	10	0.15952	T	0.53	-6.3237	20.2441	0.98394	0.0:1.0:0.0:0.0	.	496;596	F5H4J6;P42704	.;LPPRC_HUMAN	Q	496;596	ENSP00000260665:E596Q	ENSP00000260665:E596Q	E	-	1	0	LRPPRC	44029111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.297000	0.59061	2.865000	0.98341	0.655000	0.94253	GAG	LRPPRC	-	NULL		0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44175607	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44175607	C	G	44175607	3	3	97	1	0	0	0	0	1	0	0	0	8988	922	32	1	2486	1	LRPPRC	2	44175607	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	26	44175607	199023766	87	13811										
LRPPRC	10128	genome.wustl.edu	37	chr2	44177733	44177733	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcgctccaaagatttatattCatagacctgcagagggcagc	9	10	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44177733C>G	ENST00000260665.7	-	15	1713	c.1656G>C	c.(1654-1656)atG>atC	p.M552I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	552					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATTTATATTCATAGACCTGC	0.318																																																	0													53	57	55					2																	44177733		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1656G>C	2.37:g.44177733C>G	ENSP00000260665:p.Met552Ile		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.M552I	ENST00000260665.7	37	c.1656	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008391	0.35415	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.55588	0.51	5.45	4.49	0.54785	.	0.470491	0.26058	N	0.026586	T	0.50905	0.1643	M	0.72479	2.2	0.80722	D	1	B;B	0.23806	0.09;0.091	B;B	0.22880	0.042;0.014	T	0.54529	-0.8280	10	0.54805	T	0.06	-7.7134	10.9408	0.47273	0.4176:0.5824:0.0:0.0	.	452;552	F5H4J6;P42704	.;LPPRC_HUMAN	I	452;552	ENSP00000260665:M552I	ENSP00000260665:M552I	M	-	3	0	LRPPRC	44031237	0.969000	0.33509	0.407000	0.26434	0.992000	0.81027	2.405000	0.44548	2.549000	0.85964	0.549000	0.68633	ATG	LRPPRC	-	NULL		0.318	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44177733	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.973	G	G	44177733	C	G	44177733	3	3	97	1	0	0	0	0	1	0	0	0	8988	826	29	1	2624	1	LRPPRC	2	44177733	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2126	44177733	199021640	88	13812										
TSPYL6	388951	genome.wustl.edu	37	chr2	54482100	54482100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctggggatctccactggctCccttaccaggcgacgtctag	11	15	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:54482100C>T	ENST00000317802.7	-	1	1309	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	397					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TCCACTGGCTCCCTTACCAGG	0.532																																																	0													71	78	76					2																	54482100		2150	4286	6436	SO:0001583	missense	388951			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.1189G>A	2.37:g.54482100C>T	ENSP00000417919:p.Glu397Lys		Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.E397K	ENST00000317802.7	37	c.1189	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065640	0.55539	.	.	ENSG00000178021	ENST00000317802	T	0.18810	2.19	1.6	0.7	0.18099	.	.	.	.	.	T	0.29355	0.0731	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.10870	-1.0611	9	0.42905	T	0.14	.	3.9302	0.09281	0.0:0.7695:0.0:0.2305	.	397	Q8N831	TSYL6_HUMAN	K	397	ENSP00000417919:E397K	ENSP00000417919:E397K	E	-	1	0	TSPYL6	54335604	0.015000	0.18098	0.083000	0.20561	0.521000	0.34408	-0.185000	0.09684	0.242000	0.21303	0.591000	0.81541	GAG	TSPYL6	-	NULL		0.532	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3	C	XM_371494		54482100	-1	no_errors	ENST00000317802	ensembl	human	known	70_37	missense	SNP	0.126	T	T	54482100	C	T	54482100	3	4	97	1	0	0	0	0	1	0	0	0	16694	864	30	1	47	1	TSPYL6	2	54482100	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	10304367	54482100	188717273	89	13813										
TET3	200424	genome.wustl.edu	37	chr2	74273966	74273966	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggcccaggctcccagggcctCtgcctcctggtgaggccggc	15	17	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:74273966C>A	ENST00000409262.3	+	1	517	c.517C>A	c.(517-519)Ctg>Atg	p.L173M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	173					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGGGCCTCTGCCTCCTGG	0.662																																																	0													29	32	31					2																	74273966		2028	4151	6179	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.517C>A	2.37:g.74273966C>A	ENSP00000386869:p.Leu173Met		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.L173M	ENST00000409262.3	37	c.517	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748458	0.49257	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.26660	1.72;2.58	5.31	4.36	0.52297	.	.	.	.	.	T	0.24928	0.0605	N	0.19112	0.55	0.25178	N	0.990221	D	0.60575	0.988	P	0.54664	0.758	T	0.08166	-1.0735	9	0.62326	D	0.03	.	6.0061	0.19547	0.0:0.7022:0.1949:0.1029	.	173	O43151	TET3_HUMAN	M	215;173;173	ENSP00000307803:L215M;ENSP00000386869:L173M	ENSP00000233310:L173M	L	+	1	2	TET3	74127474	0.386000	0.25180	0.895000	0.35142	0.989000	0.77384	1.705000	0.37867	2.768000	0.95171	0.561000	0.74099	CTG	TET3	-	NULL		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74273966	1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	0.915	A	A	74273966	C	A	74273966	3	1	97	1	0	0	0	0	1	0	0	0	15801	912	32	3	519	3	TET3	2	74273966	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	19791866	74273966	168925407	90	13814										
POLR1A	25885	genome.wustl.edu	37	chr2	86265930	86265930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggtacacctggaatttgttCtgtttttcttccatacagaa	7	8	2	1	rs2289238		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:86265930C>T	ENST00000263857.6	-	27	4305	c.3927G>A	c.(3925-3927)caG>caA	p.Q1309Q	POLR1A_ENST00000409681.1_Silent_p.Q1309Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1309					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGAATTTGTTCTGTTTTTCTT	0.502																																																	0													105	98	100					2																	86265930		1953	4161	6114	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3927G>A	2.37:g.86265930C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.Q1309	ENST00000263857.6	37	c.3927	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.502	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86265930	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	0.123	T	T	86265930	C	T	86265930	2	4	97	1	0	0	0	0	0	0	0	1	12233	912	32	1		1	POLR1A	2	86265930	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	11991964	86265930	156933443	91	13815										
POLR1A	25885	genome.wustl.edu	37	chr2	86266480	86266480	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacaccctggtgagttgcttCttcaggcttttcactctctt	7	13	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:86266480C>T	ENST00000263857.6	-	26	4224	c.3846G>A	c.(3844-3846)aaG>aaA	p.K1282K	POLR1A_ENST00000409681.1_Silent_p.K1282K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1282					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGAGTTGCTTCTTCAGGCTTT	0.547																																																	0													227	224	225					2																	86266480		1941	4152	6093	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3846G>A	2.37:g.86266480C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.K1282	ENST00000263857.6	37	c.3846	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86266480	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	1.000	T	T	86266480	C	T	86266480	2	4	97	1	0	0	0	0	0	0	0	1	12233	912	32	1		1	POLR1A	2	86266480	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	550	86266480	156932893	92	13816										
IMMT	10989	genome.wustl.edu	37	chr2	86408434	86408434	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atacatacccagagctgcctGaagtagagtatctgcggcat	10	10	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:86408434G>A	ENST00000410111.3	-	2	494	c.107C>T	c.(106-108)tCa>tTa	p.S36L	IMMT_ENST00000442664.2_Missense_Mutation_p.S36L|IMMT_ENST00000409051.2_Missense_Mutation_p.S36L|IMMT_ENST00000449247.2_Missense_Mutation_p.S36L|IMMT_ENST00000254636.5_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	36					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTGCCTGAAGTAGAGTA	0.448																																																	0													71	69	70					2																	86408434		1932	4132	6064	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.107C>T	2.37:g.86408434G>A	ENSP00000387262:p.Ser36Leu		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	pfam_Mt-IM_prot_Mitofilin	p.S36L	ENST00000410111.3	37	c.107	CCDS46355.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012475	0.75161	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.48201	1.24;1.12;1.11;0.82	5.55	5.55	0.83447	.	0.434585	0.22367	N	0.060986	T	0.37598	0.1009	N	0.14661	0.345	0.40742	D	0.98284	B;B;B;P;B;B;B;B;B	0.38335	0.294;0.087;0.194;0.627;0.446;0.234;0.294;0.078;0.194	B;B;B;B;B;B;B;B;B	0.38378	0.272;0.06;0.14;0.219;0.271;0.087;0.272;0.182;0.14	T	0.44847	-0.9301	10	0.87932	D	0	-0.9296	19.1266	0.93388	0.0:0.0:1.0:0.0	.	36;36;36;36;36;36;36;36;36	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	L	36	ENSP00000396899:S36L;ENSP00000387262:S36L;ENSP00000407788:S36L;ENSP00000387227:S36L	ENSP00000366526:S36L	S	-	2	0	IMMT	86261945	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.643000	0.83403	2.621000	0.88768	0.655000	0.94253	TCA	IMMT	-	NULL		0.448	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2	G	NM_006839		86408434	-1	no_errors	ENST00000410111	ensembl	human	known	70_37	missense	SNP	0.998	A	A	86408434	G	A	86408434	3	1	97	1	0	0	0	0	1	0	0	0	7738	1294	45	1	2225	1	IMMT	2	86408434	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	141954	86408434	156790939	93	13817										
EIF2AK3	9451	genome.wustl.edu	37	chr2	88857388	88857388	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtcctcaaatacagcattttCaatgatgtttatagcttcag	6	8	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:88857388C>G	ENST00000303236.3	-	17	3518	c.3217G>C	c.(3217-3219)Gaa>Caa	p.E1073Q	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.E922Q|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1073	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ACAGCATTTTCAATGATGTTT	0.413																																					GBM(138;671 1851 16235 39058 45249)												0													186	180	182					2																	88857388		2203	4300	6503	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3217G>C	2.37:g.88857388C>G	ENSP00000307235:p.Glu1073Gln		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1073Q	ENST00000303236.3	37	c.3217	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606692	0.87157	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66099	-0.19;-0.19;-0.19	5.65	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239022	0.42964	D	0.000629	T	0.65291	0.2677	L	0.31065	0.9	0.41900	D	0.990418	D	0.65815	0.995	P	0.59171	0.853	T	0.64457	-0.6403	10	0.31617	T	0.26	-15.9405	16.1362	0.81490	0.1347:0.8653:0.0:0.0	.	1073	Q9NZJ5	E2AK3_HUMAN	Q	922;1073;922;952	ENSP00000408325:E922Q;ENSP00000307235:E1073Q;ENSP00000412076:E952Q	ENSP00000307235:E1073Q	E	-	1	0	EIF2AK3	88638503	1.000000	0.71417	0.988000	0.46212	0.849000	0.48306	6.220000	0.72237	1.483000	0.48342	0.655000	0.94253	GAA	EIF2AK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	C	NM_004836		88857388	-1	no_errors	ENST00000303236	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88857388	C	G	88857388	3	3	97	1	0	0	0	0	1	0	0	0	5008	835	29	1	137	1	EIF2AK3	2	88857388	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2448954	88857388	154341985	94	13818										
TMEM131	23505	genome.wustl.edu	37	chr2	98421889	98421889	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aatgatccccacactgtagtCcaggatcaaaataaatgttt	6	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:98421889C>G	ENST00000186436.5	-	21	2462	c.2234G>C	c.(2233-2235)gGa>gCa	p.G745A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	745						integral component of membrane (GO:0016021)		p.G745L(1)|p.G745V(1)|p.G632L(1)|p.G632V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACACTGTAGTCCAGGATCAAA	0.403																																																	4	Substitution - Missense(4)	lung(4)											64	64	64					2																	98421889		1897	4127	6024	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2234G>C	2.37:g.98421889C>G	ENSP00000186436:p.Gly745Ala			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.G745A	ENST00000186436.5	37	c.2234	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541378	0.27563	.	.	ENSG00000075568	ENST00000186436	T	0.28069	1.63	5.97	5.97	0.96955	.	0.143036	0.64402	D	0.000004	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.20887	0.049	B	0.15052	0.012	T	0.11616	-1.0580	10	0.08179	T	0.78	-17.5255	15.8517	0.78937	0.0:0.8651:0.1349:0.0	.	745	Q92545	TM131_HUMAN	A	745	ENSP00000186436:G745A	ENSP00000186436:G745A	G	-	2	0	TMEM131	97788321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.566000	0.60843	2.829000	0.97493	0.655000	0.94253	GGA	TMEM131	-	NULL		0.403	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98421889	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98421889	C	G	98421889	3	3	97	1	0	0	0	0	1	0	0	0	16074	855	30	1	3501	1	TMEM131	2	98421889	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9564501	98421889	144777484	95	13819										
LONRF2	164832	genome.wustl.edu	37	chr2	100925654	100925654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcatggtcaaatataactccGcccgcagcagcaataatgaa	7	11	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:100925654G>A	ENST00000393437.3	-	2	1352	c.713C>T	c.(712-714)gCg>gTg	p.A238V	LONRF2_ENST00000409647.1_5'UTR	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	238							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATATAACTCCGCCCGCAGCAG	0.368																																																	0													65	67	67					2																	100925654		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.713C>T	2.37:g.100925654G>A	ENSP00000377086:p.Ala238Val		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.A238V	ENST00000393437.3	37	c.713	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234354	0.58886	.	.	ENSG00000170500	ENST00000393437	T	0.73897	-0.79	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.291163	0.25202	U	0.032377	D	0.83261	0.5216	M	0.76328	2.33	0.80722	D	1	D	0.67145	0.996	P	0.57720	0.826	D	0.85652	0.1283	10	0.66056	D	0.02	.	15.8791	0.79189	0.0:0.0:1.0:0.0	.	238	Q1L5Z9	LONF2_HUMAN	V	238	ENSP00000377086:A238V	ENSP00000377086:A238V	A	-	2	0	LONRF2	100292086	1.000000	0.71417	0.804000	0.32291	0.084000	0.17831	5.639000	0.67868	2.258000	0.74832	0.655000	0.94253	GCG	LONRF2	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.368	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	G	NM_198461		100925654	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100925654	G	A	100925654	3	1	97	1	0	0	0	0	1	0	0	0	8918	1087	38	2	1595	2	LONRF2	2	100925654	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2503765	100925654	142273719	96	13820										
NPHP1	4867	genome.wustl.edu	37	chr2	110881535	110881535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaccgtgcagtctcagtctCttcttctgcccacctgaatg	7	16	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:110881535C>G	ENST00000393272.3	-	20	2129	c.2032G>C	c.(2032-2034)Gag>Cag	p.E678Q	NPHP1_ENST00000445609.2_Missense_Mutation_p.E623Q|NPHP1_ENST00000355301.4_Missense_Mutation_p.E560Q|NPHP1_ENST00000417665.1_Missense_Mutation_p.E657Q|NPHP1_ENST00000316534.4_Missense_Mutation_p.E679Q|AC013268.1_ENST00000390802.1_RNA	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	678					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GTCTCAGTCTCTTCTTCTGCC	0.527																																																	0													138	133	134					2																	110881535		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2032G>C	2.37:g.110881535C>G	ENSP00000376953:p.Glu678Gln		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E679Q	ENST00000393272.3	37	c.2035	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559477	0.45590	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.63096	0.05;0.06;0.04;0.06;-0.02	5.5	5.5	0.81552	.	0.197879	0.41938	D	0.000800	T	0.78521	0.4296	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.959;0.973;0.997;0.982;0.999	T	0.79825	-0.1640	10	0.66056	D	0.02	-21.8648	17.9455	0.89036	0.0:1.0:0.0:0.0	.	622;560;678;623;679	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	Q	679;623;678;560;657	ENSP00000313169:E679Q;ENSP00000389879:E623Q;ENSP00000376953:E678Q;ENSP00000347452:E560Q;ENSP00000402176:E657Q	ENSP00000313169:E679Q	E	-	1	0	NPHP1	110238824	0.999000	0.42202	0.691000	0.30163	0.114000	0.19823	5.303000	0.65738	2.580000	0.87095	0.462000	0.41574	GAG	NPHP1	-	NULL		0.527	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	C	NM_000272		110881535	-1	no_errors	ENST00000316534	ensembl	human	known	70_37	missense	SNP	0.974	G	G	110881535	C	G	110881535	3	3	97	1	0	0	0	0	1	0	0	0	10603	922	32	1	170	1	NPHP1	2	110881535	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9955881	110881535	132317838	97	13821										
POLR1B	84172	genome.wustl.edu	37	chr2	113333262	113333262	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttttcggtattttgtagctGaactggcagctatgaacatc	9	7	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:113333262G>A	ENST00000263331.5	+	15	3944	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	POLR1B_ENST00000417433.2_Missense_Mutation_p.E1066K|POLR1B_ENST00000537335.1_Missense_Mutation_p.E911K|POLR1B_ENST00000541869.1_Missense_Mutation_p.E1160K|POLR1B_ENST00000409894.3_Missense_Mutation_p.E939K	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1122					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTTGTAGCTGAACTGGCAGC	0.378																																					Ovarian(16;256 576 9537 23969 41147)												0													108	105	106					2																	113333262		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3364G>A	2.37:g.113333262G>A	ENSP00000263331:p.Glu1122Lys		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.E1160K	ENST00000263331.5	37	c.3478	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039276	0.93630	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.37	5.37	0.77165	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.97415	4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.999;0.987;0.996;1.0	D	0.97044	0.9759	10	0.87932	D	0	-26.4455	17.9067	0.88920	0.0:0.0:1.0:0.0	.	1160;939;1066;1122	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	K	1122;1160;939;911;1066	ENSP00000263331:E1122K;ENSP00000444136:E1160K;ENSP00000387143:E939K;ENSP00000437914:E911K;ENSP00000405358:E1066K	ENSP00000263331:E1122K	E	+	1	0	POLR1B	113049733	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	9.379000	0.97198	2.507000	0.84556	0.557000	0.71058	GAA	POLR1B	-	pfam_RNA_pol_Rpb2_7		0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	G	NM_019014		113333262	1	no_errors	ENST00000541869	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113333262	G	A	113333262	3	1	97	1	0	0	0	0	1	0	0	0	12234	1291	45	1	3422	1	POLR1B	2	113333262	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2451727	113333262	129866111	98	13822										
IWS1	55677	genome.wustl.edu	37	chr2	128238691	128238691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tctgctttttttccttatatCtgtgaactttctcatctgtt	4	9	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:128238691C>T	ENST00000295321.4	-	14	2648	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000454503.2_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	797	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTCCTTATATCTGTGAACTTT	0.418																																																	0													208	187	194					2																	128238691		2203	4300	6503	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2389G>A	2.37:g.128238691C>T	ENSP00000295321:p.Asp797Asn		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.D797N	ENST00000295321.4	37	c.2389	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394426	0.83011	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.35421	1.31	5.35	5.35	0.76521	.	0.045645	0.85682	D	0.000000	T	0.42245	0.1194	M	0.62723	1.935	0.80722	D	1	B	0.23442	0.085	B	0.29353	0.101	T	0.22730	-1.0208	10	0.33141	T	0.24	-37.084	19.4441	0.94840	0.0:1.0:0.0:0.0	.	797	Q96ST2	IWS1_HUMAN	N	797;750	ENSP00000295321:D797N	ENSP00000295321:D797N	D	-	1	0	IWS1	127955161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.512000	0.81728	2.671000	0.90904	0.650000	0.86243	GAT	IWS1	-	NULL		0.418	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	C	NM_017969		128238691	-1	no_errors	ENST00000295321	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128238691	C	T	128238691	3	4	97	1	0	0	0	0	1	0	0	0	7951	913	32	1	74	1	IWS1	2	128238691	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	14905429	128238691	114960682	99	13823										
CCDC74B	91409	genome.wustl.edu	37	chr2	130899945	130899945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccctggaaaggtggtttcctGaggggccatctggaaagcag	15	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:130899945G>A	ENST00000310463.6	-	3	442	c.305C>T	c.(304-306)tCa>tTa	p.S102L	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000392984.3_Missense_Mutation_p.S204L|CCDC74B_ENST00000409943.3_Intron|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	102										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTGGTTTCCTGAGGGGCCATC	0.647																																																	0													19	20	20					2																	130899945		2175	4257	6432	SO:0001583	missense	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.305C>T	2.37:g.130899945G>A	ENSP00000308873:p.Ser102Leu		Q6NW18	Missense_Mutation	SNP	NULL	p.S204L	ENST00000310463.6	37	c.611	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	13.73	2.323445	0.41096	.	.	ENSG00000152076	ENST00000310463;ENST00000392984	T;T	0.52057	0.68;1.53	1.69	1.69	0.24217	.	.	.	.	.	T	0.32645	0.0836	L	0.36672	1.1	0.09310	N	1	P;P	0.50710	0.712;0.938	B;B	0.38156	0.116;0.266	T	0.20405	-1.0276	9	0.87932	D	0	.	6.7551	0.23510	0.0:0.0:1.0:0.0	.	204;102	E7ESC5;Q96LY2	.;CC74B_HUMAN	L	102;204	ENSP00000308873:S102L;ENSP00000376710:S204L	ENSP00000308873:S102L	S	-	2	0	CCDC74B	130616415	0.001000	0.12720	0.005000	0.12908	0.050000	0.14768	0.492000	0.22435	0.918000	0.36919	0.454000	0.30748	TCA	CCDC74B	-	NULL		0.647	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	G	NM_207310		130899945	-1	no_errors	ENST00000392984	ensembl	human	known	70_37	missense	SNP	0.053	A	A	130899945	G	A	130899945	3	1	97	1	0	0	0	0	1	0	0	0	2853	1294	45	1	861	1	CCDC74B	2	130899945	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2661254	130899945	112299428	100	13824										
NCKAP5	344148	genome.wustl.edu	37	chr2	133887672	133887672	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcctcttccagttcatgtatCagcttctcatgctataaaag	5	11	4	0	rs371025656		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:133887672C>T	ENST00000409261.1	-	6	592	c.219G>A	c.(217-219)ctG>ctA	p.L73L	NCKAP5_ENST00000405974.3_Silent_p.L73L|NCKAP5_ENST00000317721.6_Silent_p.L73L|NCKAP5_ENST00000409213.1_Silent_p.L73L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	73										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTCATGTATCAGCTTCTCAT	0.413																																																	0													72	67	69					2																	133887672		1900	4116	6016	SO:0001819	synonymous_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.219G>A	2.37:g.133887672C>T			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.L73	ENST00000409261.1	37	c.219	CCDS46418.1	2																																																																																			NCKAP5	-	NULL		0.413	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133887672	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133887672	C	T	133887672	2	4	97	1	0	0	0	0	0	0	0	1	10247	813	29	1		1	NCKAP5	2	133887672	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2987727	133887672	109311701	101	13825										
MCM6	4175	genome.wustl.edu	37	chr2	136626216	136626216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaatcttgatttatttgtatCcagtaagaatctcctcctgt	5	8	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:136626216C>T	ENST00000264156.2	-	4	640	c.580G>A	c.(580-582)Gat>Aat	p.D194N		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	194					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTATTTGTATCCAGTAAGAAT	0.373																																					Ovarian(196;141 2104 8848 24991 25939)												0													109	113	112					2																	136626216		2203	4300	6503	SO:0001583	missense	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.580G>A	2.37:g.136626216C>T	ENSP00000264156:p.Asp194Asn		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase	p.D194N	ENST00000264156.2	37	c.580	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108718	0.56291	.	.	ENSG00000076003	ENST00000264156	T	0.03951	3.75	5.82	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.084311	0.85682	D	0.000000	T	0.06280	0.0162	L	0.39898	1.24	0.80722	D	1	B	0.28820	0.224	B	0.34301	0.179	T	0.35400	-0.9790	10	0.12430	T	0.62	-24.4536	15.2302	0.73381	0.0:0.9327:0.0:0.0673	.	194	Q14566	MCM6_HUMAN	N	194	ENSP00000264156:D194N	ENSP00000264156:D194N	D	-	1	0	MCM6	136342686	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	5.904000	0.69886	1.483000	0.48342	-0.232000	0.12228	GAT	MCM6	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.373	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	C	NM_005915		136626216	-1	no_errors	ENST00000264156	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136626216	C	T	136626216	3	4	97	1	0	0	0	0	1	0	0	0	9414	855	30	1	1941	1	MCM6	2	136626216	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2738544	136626216	106573157	102	13826										
NEB	4703	genome.wustl.edu	37	chr2	152507262	152507262	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagaacttagttttccacttCtcaaagtccttcttgtattc	5	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:152507262C>G	ENST00000172853.10	-	53	7200	c.7053G>C	c.(7051-7053)gaG>gaC	p.E2351D	NEB_ENST00000603639.1_Missense_Mutation_p.E2351D|NEB_ENST00000409198.1_Missense_Mutation_p.E2351D|NEB_ENST00000397345.3_Missense_Mutation_p.E2351D|NEB_ENST00000427231.2_Missense_Mutation_p.E2351D|NEB_ENST00000604864.1_Missense_Mutation_p.E2351D			P20929	NEBU_HUMAN	nebulin	2351					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCCACTTCTCAAAGTCCT	0.458																																																	0													264	265	265					2																	152507262		1990	4170	6160	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7053G>C	2.37:g.152507262C>G	ENSP00000172853:p.Glu2351Asp		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E2351D	ENST00000172853.10	37	c.7053		2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223941	0.58668	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.47	2.71	0.32032	.	0.116225	0.64402	D	0.000020	T	0.72724	0.3496	M	0.86953	2.85	0.80722	D	1	D	0.55172	0.97	P	0.59221	0.854	T	0.73288	-0.4030	10	0.56958	D	0.05	.	10.1123	0.42570	0.0:0.6723:0.0:0.3277	.	2351	P20929	NEBU_HUMAN	D	2351	ENSP00000386259:E2351D;ENSP00000380505:E2351D;ENSP00000416578:E2351D;ENSP00000172853:E2351D	ENSP00000172853:E2351D	E	-	3	2	NEB	152215508	0.961000	0.32948	1.000000	0.80357	0.989000	0.77384	0.107000	0.15375	0.292000	0.22492	0.650000	0.86243	GAG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.458	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152507262	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.997	G	G	152507262	C	G	152507262	3	3	97	1	0	0	0	0	1	0	0	0	10326	912	32	1	19153	1	NEB	2	152507262	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	15881046	152507262	90692111	103	13827										
SCN9A	6335	genome.wustl.edu	37	chr2	167055379	167055379	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttttttattgagtaaatcatCatctctgtctccatctttta	3	8	5	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:167055379C>T	ENST00000409435.1	-	26	5769	c.5770G>A	c.(5770-5772)Gat>Aat	p.D1924N	SCN9A_ENST00000375387.4_Missense_Mutation_p.D1925N|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1913N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1925N|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1924					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTAAATCATCATCTCTGTCT	0.363																																																	0													92	90	91					2																	167055379		1944	4156	6100	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5770G>A	2.37:g.167055379C>T	ENSP00000386330:p.Asp1924Asn		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1925N	ENST00000409435.1	37	c.5773	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611466	0.28712	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.95885	-3.81;-3.84;-3.84;-3.84	5.74	5.74	0.90152	.	0.491897	0.17814	N	0.161106	D	0.92198	0.7526	L	0.31526	0.94	0.33740	D	0.619351	B	0.06786	0.001	B	0.06405	0.002	D	0.90055	0.4152	10	0.35671	T	0.21	.	17.7884	0.88545	0.0:1.0:0.0:0.0	.	1913	E7EUN6	.	N	1913;1925;1925;1924	ENSP00000386306:D1913N;ENSP00000364536:D1925N;ENSP00000304748:D1925N;ENSP00000386330:D1924N	ENSP00000304748:D1925N	D	-	1	0	SCN9A	166763625	0.995000	0.38212	1.000000	0.80357	0.710000	0.40934	1.003000	0.29809	2.885000	0.99019	0.579000	0.79373	GAT	SCN9A	-	NULL		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167055379	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167055379	C	T	167055379	3	4	97	1	0	0	0	0	1	0	0	0	13955	826	29	1	200	1	SCN9A	2	167055379	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	14548117	167055379	76143994	104	13828										
ABCB11	8647	genome.wustl.edu	37	chr2	169847359	169847359	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagcagccactgttctcattGatgaaatgacttcatcagcc	7	11	3	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:169847359G>C	ENST00000263817.6	-	9	984	c.860C>G	c.(859-861)tCa>tGa	p.S287*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	287	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGTTCTCATTGATGAAATGAC	0.398																																																	0													195	197	196					2																	169847359		1904	4118	6022	SO:0001587	stop_gained	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.860C>G	2.37:g.169847359G>C	ENSP00000263817:p.Ser287*		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S287*	ENST00000263817.6	37	c.860	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.302571	0.98196	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.53	5.53	0.82687	.	0.441470	0.26995	N	0.021457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.32	0.74115	0.0:0.1393:0.8607:0.0	.	.	.	.	X	287	.	ENSP00000263817:S287X	S	-	2	0	ABCB11	169555605	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.798000	0.85924	2.756000	0.94617	0.655000	0.94253	TCA	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169847359	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	169847359	G	C	169847359	4	2	97	1	0	0	0	0	0	1	0	0	42	1294	45	1	3185	1	ABCB11	2	169847359	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2791980	169847359	73352014	105	13829										
LRP2	4036	genome.wustl.edu	37	chr2	170063588	170063588	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcaaggaaagaacgctcaatCtttggtctctgcccatagtc	8	11	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:170063588C>A	ENST00000263816.3	-	39	6927	c.6642G>T	c.(6640-6642)aaG>aaT	p.K2214N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2214					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AACGCTCAATCTTTGGTCTCT	0.502																																																	0													181	164	170					2																	170063588		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6642G>T	2.37:g.170063588C>A	ENSP00000263816:p.Lys2214Asn		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.K2214N	ENST00000263816.3	37	c.6642	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304250	0.60305	.	.	ENSG00000081479	ENST00000263816	D	0.94862	-3.54	5.98	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95971	0.8970	10	0.32370	T	0.25	.	7.7833	0.29077	0.0:0.7269:0.1378:0.1354	.	2214	P98164	LRP2_HUMAN	N	2214	ENSP00000263816:K2214N	ENSP00000263816:K2214N	K	-	3	2	LRP2	169771834	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.980000	0.40618	1.518000	0.48934	-0.181000	0.13052	AAG	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170063588	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170063588	C	A	170063588	3	1	97	1	0	0	0	0	1	0	0	0	8979	912	32	3	7489	3	LRP2	2	170063588	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	216229	170063588	73135785	106	13830										
BBS5	129880	genome.wustl.edu	37	chr2	170349383	170349383	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttgtttgttctttttcataGagcttatgaaacttctaaaa	5	5	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:170349383G>A	ENST00000295240.3	+	6	762		c.e6-1		BBS5_ENST00000392663.2_Splice_Site|RP11-724O16.1_ENST00000513963.1_Splice_Site|BBS5_ENST00000554017.1_Splice_Site	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5						cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTTTTTCATAGAGCTTATGAA	0.284									Bardet-Biedl syndrome																																								0													52	50	51					2																	170349383		2201	4295	6496	SO:0001630	splice_region_variant	129880	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.387-1G>A	2.37:g.170349383G>A			D3DPC3|Q6PKN0	Splice_Site	SNP	-	e6-1	ENST00000295240.3	37	c.387-1	CCDS2233.1	2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119225	0.37436	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.612	0.95610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS5;RP11-724O16.1	170057629	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	9.835000	0.99442	2.651000	0.90000	0.585000	0.79938	.	BBS5	-	-		0.284	BBS5-001	KNOWN	basic|CCDS	protein_coding	BBS5	HGNC	protein_coding	OTTHUMT00000255265.2	G	NM_152384	Intron	170349383	1	no_errors	ENST00000554017	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	170349383	G	A	170349383	5	1	97	1	0	0	0	0	0	0	1	0	1341	956	33	1	408	1	BBS5	2	170349383	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	285795	170349383	72849990	107	13831										
TTN	7273	genome.wustl.edu	37	chr2	179481956	179481956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttatttcctttttccaatccGgtaacctacgattatgaatt	4	9	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:179481956G>A	ENST00000591111.1	-	205	43067	c.42843C>T	c.(42841-42843)acC>acT	p.T14281T	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T6857T|TTN_ENST00000589042.1_Silent_p.T15922T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.T7049T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.T6982T|TTN_ENST00000342992.6_Silent_p.T13354T			Q8WZ42	TITIN_HUMAN	titin	14281	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCAATCCGGTAACCTACG	0.328																																																	0													37	34	35					2																	179481956		1803	4047	5850	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42843C>T	2.37:g.179481956G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T13354	ENST00000591111.1	37	c.40062		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179481956	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.978	A	A	179481956	G	A	179481956	2	1	97	1	0	0	0	0	0	0	0	1	16766	1103	39	2		2	TTN	2	179481956	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	9132573	179481956	63717417	108	13832										
PDE1A	5136	genome.wustl.edu	37	chr2	183105003	183105003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aatgtcactgagctcatcttCagtatccagaagtcttctac	6	11	6	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:183105003C>G	ENST00000410103.1	-	4	315	c.232G>C	c.(232-234)Gaa>Caa	p.E78Q	PDE1A_ENST00000358139.2_Missense_Mutation_p.E78Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E62Q|PDE1A_ENST00000435564.1_Missense_Mutation_p.E78Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.E62Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.E44Q|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.E78Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.E78Q|PDE1A_ENST00000536095.1_5'UTR	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	78					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGCTCATCTTCAGTATCCAGA	0.358																																																	0													70	68	69					2																	183105003		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.232G>C	2.37:g.183105003C>G	ENSP00000387037:p.Glu78Gln		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E78Q	ENST00000410103.1	37	c.232	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022659	0.75275	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.77;-0.85;-0.85;-0.82;-0.83;-0.83;-0.84	5.26	5.26	0.73747	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.269445	0.41605	D	0.000850	D	0.86310	0.5902	M	0.77103	2.36	0.80722	D	1	D;P;D;P	0.62365	0.991;0.931;0.958;0.915	D;D;P;D	0.68943	0.92;0.961;0.905;0.935	D	0.87774	0.2607	10	0.87932	D	0	.	18.208	0.89860	0.0:1.0:0.0:0.0	.	44;78;62;78	P54750-3;P54750;P54750-2;P54750-4	.;PDE1A_HUMAN;.;.	Q	78;44;62;78;62;78;78;78	ENSP00000410309:E78Q;ENSP00000329112:E44Q;ENSP00000386767:E62Q;ENSP00000331574:E78Q;ENSP00000309269:E62Q;ENSP00000387037:E78Q;ENSP00000350858:E78Q;ENSP00000408874:E78Q	ENSP00000331574:E78Q	E	-	1	0	PDE1A	182813248	1.000000	0.71417	0.077000	0.20336	0.703000	0.40648	7.776000	0.85560	2.631000	0.89168	0.655000	0.94253	GAA	PDE1A	-	pfam_PDEase_N		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	C			183105003	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	missense	SNP	0.997	G	G	183105003	C	G	183105003	3	3	97	1	0	0	0	0	1	0	0	0	11657	835	29	1	1501	1	PDE1A	2	183105003	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3623047	183105003	60094370	109	13833										
COL5A2	1290	genome.wustl.edu	37	chr2	189904256	189904256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaggtggccagggggacccgGagggccaggtgggccaggct	21	10	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:189904256G>A	ENST00000374866.3	-	51	3941	c.3667C>T	c.(3667-3669)Ccg>Tcg	p.P1223S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1223					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGGGACCCGGAGGGCCAGGT	0.488																																																	0													23	25	24					2																	189904256		2203	4298	6501	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3667C>T	2.37:g.189904256G>A	ENSP00000364000:p.Pro1223Ser		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1223S	ENST00000374866.3	37	c.3667	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590414	0.66219	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96587	-4.06	5.28	4.41	0.53225	.	0.000000	0.48286	D	0.000197	D	0.95408	0.8509	M	0.74647	2.275	0.80722	D	1	B;B	0.20052	0.002;0.041	B;B	0.24541	0.033;0.054	D	0.93441	0.6794	10	0.54805	T	0.06	.	13.7449	0.62870	0.0745:0.0:0.9255:0.0	.	863;1223	Q5PR22;P05997	.;CO5A2_HUMAN	S	1223;863	ENSP00000364000:P1223S	ENSP00000364000:P1223S	P	-	1	0	COL5A2	189612501	1.000000	0.71417	0.933000	0.37362	0.987000	0.75469	9.864000	0.99589	1.215000	0.43411	0.655000	0.94253	CCG	COL5A2	-	pfam_Collagen		0.488	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189904256	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189904256	G	A	189904256	3	1	97	1	0	0	0	0	1	0	0	0	3702	1174	41	1	848	1	COL5A2	2	189904256	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6799253	189904256	53295117	110	13834										
MYO1B	4430	genome.wustl.edu	37	chr2	192227049	192227049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aactacctgagtctggattcGgccaaagtgaatggagtgga	13	7	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:192227049G>A	ENST00000392318.3	+	9	964	c.717G>A	c.(715-717)tcG>tcA	p.S239S	MYO1B_ENST00000339514.4_Silent_p.S239S|MYO1B_ENST00000392316.1_Silent_p.S239S|MYO1B_ENST00000304164.4_Silent_p.S239S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	239	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTCTGGATTCGGCCAAAGTGA	0.393																																																	0													135	127	129					2																	192227049		2203	4300	6503	SO:0001819	synonymous_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.717G>A	2.37:g.192227049G>A			O43794|Q7Z6L5	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S239	ENST00000392318.3	37	c.717	CCDS46477.1	2																																																																																			MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	G	NM_012223		192227049	1	no_errors	ENST00000304164	ensembl	human	known	70_37	silent	SNP	0.001	A	A	192227049	G	A	192227049	2	1	97	1	0	0	0	0	0	0	0	1	10092	1103	39	2		2	MYO1B	2	192227049	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2322793	192227049	50972324	111	13835										
MARS2	92935	genome.wustl.edu	37	chr2	198571760	198571760	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taggctgggggtctctgcctCagagaggagtcttggagagc	17	8	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:198571760C>T	ENST00000282276.6	+	1	1674	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	544					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GTCTCTGCCTCAGAGAGGAGT	0.532																																																	0													110	110	110					2																	198571760		2203	4300	6503	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1631C>T	2.37:g.198571760C>T	ENSP00000282276:p.Ser544Leu		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.S544L	ENST00000282276.6	37	c.1631	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	C	5.208	0.223896	0.09863	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	4.83	4.83	0.62350	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.347802	0.27876	N	0.017490	T	0.30198	0.0757	N	0.24115	0.695	0.20764	N	0.999855	B	0.17465	0.022	B	0.22880	0.042	T	0.20706	-1.0267	10	0.54805	T	0.06	-2.2678	11.1947	0.48707	0.0:0.8144:0.1855:0.0	.	544	Q96GW9	SYMM_HUMAN	L	544;471	ENSP00000282276:S544L	ENSP00000282276:S544L	S	+	2	0	MARS2	198280005	0.393000	0.25237	1.000000	0.80357	0.182000	0.23217	1.081000	0.30791	2.505000	0.84491	0.650000	0.86243	TCA	MARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth		0.532	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	C	NM_138395		198571760	1	no_errors	ENST00000282276	ensembl	human	known	70_37	missense	SNP	0.646	T	T	198571760	C	T	198571760	3	4	97	1	0	0	0	0	1	0	0	0	9340	838	29	1	1633	1	MARS2	2	198571760	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6344711	198571760	44627613	112	13836										
SPATS2L	26010	genome.wustl.edu	37	chr2	201305383	201305383	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caattttaggcccaaatattGagaaatcagtgaaggatttg	9	5	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:201305383G>C	ENST00000358677.5	+	8	911	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	SPATS2L_ENST00000409385.1_Missense_Mutation_p.E162Q|SPATS2L_ENST00000409755.3_Missense_Mutation_p.E252Q|SPATS2L_ENST00000451764.2_Missense_Mutation_p.E222Q|SPATS2L_ENST00000409988.3_Missense_Mutation_p.E222Q|SPATS2L_ENST00000409140.3_Missense_Mutation_p.E222Q|SPATS2L_ENST00000409151.1_Missense_Mutation_p.E230Q|SPATS2L_ENST00000409718.1_Missense_Mutation_p.E222Q|SPATS2L_ENST00000360760.5_Missense_Mutation_p.E153Q	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	222						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCCAAATATTGAGAAATCAGT	0.358																																																	0													73	69	70					2																	201305383		1863	4107	5970	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.664G>C	2.37:g.201305383G>C	ENSP00000351503:p.Glu222Gln		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.E252Q	ENST00000358677.5	37	c.754	CCDS46483.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.178198|5.178198	0.94846|0.94846	.|.	.|.	ENSG00000196141|ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000449647;ENST00000438761|ENST00000366118	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.66297|0.66297	2.02|2.02	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.997;0.998|.	T|T	0.71909|0.71909	-0.4450|-0.4450	9|5	0.87932|.	D|.	0|.	-27.6298|-27.6298	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	252;153;222|.	B4DT67;Q9NUQ6-2;Q9NUQ6|.	.;.;SPS2L_HUMAN|.	Q|F	222;222;222;162;222;153;153;222;153;252;230;153;148|4	.|.	ENSP00000351503:E222Q|.	E|L	+|+	1|3	0|2	SPATS2L|SPATS2L	201013628|201013628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.509000|8.509000	0.90529|0.90529	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAG|TTG	SPATS2L	-	pfam_DUF1387		0.358	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	G	NM_015535		201305383	1	no_errors	ENST00000409755	ensembl	human	known	70_37	missense	SNP	1.000	C	C	201305383	G	C	201305383	3	2	97	1	0	0	0	0	1	0	0	0	15050	1291	45	1	686	1	SPATS2L	2	201305383	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2733623	201305383	41893990	113	13837										
CLK1	1195	genome.wustl.edu	37	chr2	201726555	201726555	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaatccttgtcatcccaatCaggacagtaagttctctttg	6	12	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:201726555C>G	ENST00000321356.4	-	2	166	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CLK1_ENST00000434813.2_Missense_Mutation_p.D53H|CLK1_ENST00000492793.1_Intron|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	11					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCATCCCAATCAGGACAGTAA	0.413																																																	0													132	120	124					2																	201726555		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.31G>C	2.37:g.201726555C>G	ENSP00000326830:p.Asp11His		B4DFW7|Q0P694|Q8N5V8	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.D11H	ENST00000321356.4	37	c.31	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420678	0.62622	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.68025	-0.3;-0.26	5.27	5.27	0.74061	.	0.105878	0.64402	D	0.000007	T	0.68943	0.3056	M	0.72118	2.19	0.50632	D	0.999888	B;B	0.19331	0.035;0.028	B;B	0.19148	0.024;0.012	T	0.68194	-0.5473	10	0.72032	D	0.01	.	18.8743	0.92328	0.0:1.0:0.0:0.0	.	53;11	B4DFW7;P49759	.;CLK1_HUMAN	H	11;11;53	ENSP00000326830:D11H;ENSP00000394734:D53H	ENSP00000326830:D11H	D	-	1	0	CLK1	201434800	0.225000	0.23685	0.991000	0.47740	0.850000	0.48378	2.622000	0.46427	2.613000	0.88420	0.637000	0.83480	GAT	CLK1	-	NULL		0.413	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	C			201726555	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	1.000	G	G	201726555	C	G	201726555	3	3	97	1	0	0	0	0	1	0	0	0	3541	826	29	1	1471	1	CLK1	2	201726555	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	421172	201726555	41472818	114	13838										
MAP2	4133	genome.wustl.edu	37	chr2	210558119	210558119	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgttatggggaaagttttaGaggaagaaaaggaggccata	14	2	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:210558119G>C	ENST00000360351.4	+	7	1731	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E405Q|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	409					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAGTTTTAGAGGAAGAAAA	0.448																																					Pancreas(27;423 979 28787 29963)												0													80	81	81					2																	210558119		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1225G>C	2.37:g.210558119G>C	ENSP00000353508:p.Glu409Gln		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E409Q	ENST00000360351.4	37	c.1225	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	2.292	-0.362226	0.05103	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.19105	2.17;2.17;2.17	5.69	3.91	0.45181	MAP2/Tau projection (1);	0.921457	0.09290	N	0.822391	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B	0.30937	0.256;0.301	B;B	0.35727	0.132;0.209	T	0.33574	-0.9863	10	0.66056	D	0.02	0.0168	7.2562	0.26177	0.1399:0.0:0.7233:0.1368	.	405;409	P11137-3;P11137	.;MAP2_HUMAN	Q	409;491;405	ENSP00000353508:E409Q;ENSP00000409969:E491Q;ENSP00000392164:E405Q	ENSP00000353508:E409Q	E	+	1	0	MAP2	210266364	0.148000	0.22702	0.001000	0.08648	0.006000	0.05464	3.056000	0.49923	0.772000	0.33382	-0.145000	0.13849	GAG	MAP2	-	pfam_MAP2_projctn		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210558119	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.001	C	C	210558119	G	C	210558119	3	2	97	1	0	0	0	0	1	0	0	0	9258	943	33	1	1239	1	MAP2	2	210558119	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8831564	210558119	32641254	115	13839										
C2orf67	151050	genome.wustl.edu	37	chr2	210968836	210968836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctttgactttacctgtttttCgatgtttcgaagaagtaaag	8	6	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:210968836C>T	ENST00000281772.9	-	4	1683	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KANSL1L_ENST00000457374.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.E474K	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	474						histone acetyltransferase complex (GO:0000123)											ACCTGTTTTTCGATGTTTCGA	0.368																																																	0													95	89	91					2																	210968836		2203	4300	6503	SO:0001583	missense	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1420G>A	2.37:g.210968836C>T	ENSP00000281772:p.Glu474Lys		B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	NULL	p.E474K	ENST00000281772.9	37	c.1420	CCDS33370.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.005338|5.005338	0.93287|0.93287	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73063|0.73063	0.3539|0.3539	L|L	0.56769|0.56769	1.78|1.78	0.51767|0.51767	D|D	0.999933|0.999933	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.80764|.	0.994;0.963;0.987;0.987|.	T|T	0.69320|0.69320	-0.5176|-0.5176	9|5	0.54805|.	T|.	0.06|.	.|.	19.6495|19.6495	0.95795|0.95795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	474;474;474;474|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	K|Q	474|168	.|.	ENSP00000281772:E474K|.	E|R	-|-	1|2	0|0	C2orf67|C2orf67	210677081|210677081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.610000|5.610000	0.67668|0.67668	2.717000|2.717000	0.92951|0.92951	0.585000|0.585000	0.79938|0.79938	GAA|CGA	KANSL1L	-	NULL		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	C	NM_152519		210968836	-1	no_errors	ENST00000281772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	210968836	C	T	210968836	3	4	97	1	0	0	0	0	1	0	0	0	2191	893	31	1	1591	1	C2orf67	2	210968836	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	410717	210968836	32230537	116	13840										
ZFAND2B	130617	genome.wustl.edu	37	chr2	220072422	220072422	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgtgcctgtgcctgtggccaGaggggagccccctgaccgtg	16	13	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:220072422G>T	ENST00000289528.5	+	3	398	c.203G>T	c.(202-204)aGa>aTa	p.R68I	ZFAND2B_ENST00000409594.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R68I	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	68						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTGGCCAGAGGGGAGCCC	0.557																																																	0													89	83	85					2																	220072422		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.203G>T	2.37:g.220072422G>T	ENSP00000289528:p.Arg68Ile		Q8NB98	Missense_Mutation	SNP	pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1	p.R68I	ENST00000289528.5	37	c.203	CCDS2435.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.323773	0.95708	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409412;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000409319;ENST00000444522	T;T;T;T;T;T;T;T;T;T	0.48522	0.88;0.88;0.81;0.84;0.9;0.83;0.81;0.82;0.9;0.83	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.88570	2.965	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66847	0.921;0.947	T	0.78713	-0.2097	10	0.66056	D	0.02	-19.6843	18.4617	0.90741	0.0:0.0:1.0:0.0	.	68;68	Q8WV99;B4DEN4	ZFN2B_HUMAN;.	I	68	ENSP00000386824:R68I;ENSP00000386399:R68I;ENSP00000289528:R68I;ENSP00000409931:R68I;ENSP00000386847:R68I;ENSP00000387179:R68I;ENSP00000386898:R68I;ENSP00000386370:R68I;ENSP00000387312:R68I;ENSP00000411334:R68I	ENSP00000289528:R68I	R	+	2	0	ZFAND2B	219780666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.265000	0.58865	2.691000	0.91804	0.655000	0.94253	AGA	ZFAND2B	-	NULL		0.557	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	ZFAND2B	HGNC	protein_coding	OTTHUMT00000256824.2	G	NM_138802		220072422	1	no_errors	ENST00000289528	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220072422	G	T	220072422	3	4	97	1	0	0	0	0	1	0	0	0	17658	942	33	3	213	3	ZFAND2B	2	220072422	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	9103586	220072422	23126951	117	13841										
SETD5	55209	genome.wustl.edu	37	chr3	9512245	9512245	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tactcaactcaggtcattctGacctggctcctcatccctcc	5	17	5	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:9512245G>C	ENST00000406341.1	+	18	3017	c.2827G>C	c.(2827-2829)Gac>Cac	p.D943H	SETD5_ENST00000407969.1_Missense_Mutation_p.D962H|SETD5_ENST00000402198.1_Missense_Mutation_p.D943H|SETD5_ENST00000402466.1_Missense_Mutation_p.D845H|SETD5_ENST00000302463.6_Missense_Mutation_p.D845H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	943										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGTCATTCTGACCTGGCTCC	0.512																																																	0													186	174	178					3																	9512245		1916	4137	6053	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2827G>C	3.37:g.9512245G>C	ENSP00000383939:p.Asp943His		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.D943H	ENST00000406341.1	37	c.2827	CCDS46741.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.42|17.42	3.384852|3.384852	0.61956|0.61956	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.93247|.	-2.86;-3.19;-2.86;-2.85;-3.19|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.642863|.	0.15974|.	N|.	0.235617|.	T|.	0.55257|.	0.1909|.	N|N	0.24115|0.24115	0.695|0.695	0.36254|0.36254	D|D	0.854115|0.854115	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;P|.	0.78314|.	0.991;0.977;0.894|.	T|.	0.58498|.	-0.7626|.	10|.	0.48119|.	T|.	0.1|.	-14.1336|-14.1336	18.9705|18.9705	0.92713|0.92713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	612;845;943|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	H|S	943;845;943;962;845|610;273	ENSP00000385852:D943H;ENSP00000384429:D845H;ENSP00000383939:D943H;ENSP00000384114:D962H;ENSP00000302028:D845H|.	ENSP00000302028:D845H|.	D|X	+|+	1|2	0|2	SETD5|SETD5	9487245|9487245	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	7.538000|7.538000	0.82048|0.82048	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	GAC|TGA	SETD5	-	NULL		0.512	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	G	XM_371614		9512245	1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9512245	G	C	9512245	3	2	97	1	0	0	0	0	1	0	0	0	14164	1290	45	1	2893	1	SETD5	3	9512245	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		9512245	188510185	118	13842										
TMEM111	55831	genome.wustl.edu	37	chr3	10011415	10011415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagtataccttgaaagctttGtttgtgtctgcgggcatggc	13	7	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:10011415G>A	ENST00000245046.2	-	7	1103	c.645C>T	c.(643-645)aaC>aaT	p.N215N	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	215						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGAAAGCTTTGTTTGTGTCTG	0.473																																																	0													125	110	115					3																	10011415		2203	4300	6503	SO:0001819	synonymous_variant	55831			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.645C>T	3.37:g.10011415G>A			B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.N215	ENST00000245046.2	37	c.645	CCDS2594.1	3																																																																																			EMC3	-	pirsf_UCP010045_TM_euk		0.473	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	G	NM_018447		10011415	-1	no_errors	ENST00000245046	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10011415	G	A	10011415	2	1	97	1	0	0	0	0	0	0	0	1	16058	1368	48	4		4	TMEM111	3	10011415	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	499170	10011415	188011015	119	13843										
PPARG	5468	genome.wustl.edu	37	chr3	12458466	12458466	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tacacaatgctggcctccttGatgaataaagatggggttct	10	8	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:12458466G>A	ENST00000287820.6	+	6	1204	c.1083G>A	c.(1081-1083)ttG>ttA	p.L361L	PPARG_ENST00000397015.2_Silent_p.L333L|PPARG_ENST00000397012.2_Silent_p.L333L|PPARG_ENST00000309576.6_Silent_p.L333L|PPARG_ENST00000397010.2_Silent_p.L333L|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Silent_p.L339L|PPARG_ENST00000397000.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	361	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGGCCTCCTTGATGAATAAAG	0.448			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																	Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													63	60	61					3																	12458466		2203	4300	6503	SO:0001819	synonymous_variant	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1083G>A	3.37:g.12458466G>A			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L361	ENST00000287820.6	37	c.1083	CCDS2609.1	3																																																																																			PPARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt		0.448	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	G	NM_005037		12458466	1	no_errors	ENST00000287820	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12458466	G	A	12458466	2	1	97	1	0	0	0	0	0	0	0	1	12323	1281	45	1		1	PPARG	3	12458466	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2447051	12458466	185563964	120	13844										
TRANK1	9881	genome.wustl.edu	37	chr3	36905816	36905816	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtggaaaaaattaccttgcaGagtagaaaggagacgcaaga	12	5	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:36905816G>A	ENST00000429976.2	-	9	1349	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	368							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTACCTTGCAGAGTAGAAAGG	0.323																																																	0													92	78	83					3																	36905816		692	1591	2283	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1102C>T	3.37:g.36905816G>A			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L368	ENST00000429976.2	37	c.1102	CCDS46789.2	3																																																																																			TRANK1	-	superfamily_Ankyrin_rpt-contain_dom		0.323	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36905816	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	silent	SNP	0.747	A	A	36905816	G	A	36905816	2	1	97	1	0	0	0	0	0	0	0	1	16485	933	33	1		1	TRANK1	3	36905816	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	24447350	36905816	161116614	121	13845										
VILL	50853	genome.wustl.edu	37	chr3	38042986	38042986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tacacaggcagcccgtggacCccaagcgtcatggacagctg	12	14	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:38042986C>T	ENST00000283713.6	+	12	1488	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	VILL_ENST00000383759.2_Missense_Mutation_p.P408S|VILL_ENST00000465644.1_Missense_Mutation_p.P126S			O15195	VILL_HUMAN	villin-like	408					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCCGTGGACCCCAAGCGTCA	0.587																																																	0													111	95	100					3																	38042986		2203	4300	6503	SO:0001583	missense	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1222C>T	3.37:g.38042986C>T	ENSP00000283713:p.Pro408Ser		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.P408S	ENST00000283713.6	37	c.1222	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587429	0.28268	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.56776	0.44;0.44;0.44	4.04	3.16	0.36331	Gelsolin domain (1);	0.170563	0.53938	N	0.000059	T	0.46756	0.1409	L	0.60455	1.87	0.35148	D	0.769499	B;B	0.21071	0.041;0.051	B;B	0.28305	0.053;0.088	T	0.50955	-0.8766	10	0.17369	T	0.5	-16.1299	10.785	0.46401	0.0:0.9047:0.0:0.0953	.	394;408	O15195-2;O15195	.;VILL_HUMAN	S	408;408;394;126	ENSP00000283713:P408S;ENSP00000373266:P408S;ENSP00000422096:P126S	ENSP00000283713:P408S	P	+	1	0	VILL	38017990	0.970000	0.33590	0.545000	0.28153	0.132000	0.20833	2.486000	0.45259	1.062000	0.40625	0.455000	0.32223	CCC	VILL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.587	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	C	NM_015873		38042986	1	no_errors	ENST00000283713	ensembl	human	known	70_37	missense	SNP	0.989	T	T	38042986	C	T	38042986	3	4	97	1	0	0	0	0	1	0	0	0	17196	623	22	4	1264	4	VILL	3	38042986	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1137170	38042986	159979444	122	13846										
CYP8B1	1582	genome.wustl.edu	37	chr3	42917302	42917302	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcccagcactggaccccagaGaaccatggctatgctcctgc	9	16	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:42917302G>A	ENST00000316161.4	-	1	331	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	CYP8B1_ENST00000437102.1_Missense_Mutation_p.L3F|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	3					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGACCCCAGAGAACCATGGCT	0.597																																																	0													30	31	30					3																	42917302		2193	4284	6477	SO:0001583	missense	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.7C>T	3.37:g.42917302G>A	ENSP00000318867:p.Leu3Phe		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L3F	ENST00000316161.4	37	c.7	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	G	5.016	0.188717	0.09547	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.76316	-0.54;-1.01	4.89	0.915	0.19366	.	0.654660	0.14782	N	0.298722	T	0.50360	0.1611	N	0.08118	0	0.09310	N	0.999994	B;B	0.14012	0.009;0.005	B;B	0.14578	0.011;0.007	T	0.31833	-0.9929	10	0.10377	T	0.69	-11.9746	5.0069	0.14293	0.3149:0.0:0.5432:0.1418	.	3;3	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	F	3	ENSP00000404499:L3F;ENSP00000318867:L3F	ENSP00000318867:L3F	L	-	1	0	CYP8B1	42892306	0.022000	0.18835	0.987000	0.45799	0.291000	0.27294	0.186000	0.16978	0.253000	0.21552	0.561000	0.74099	CTC	CYP8B1	-	NULL		0.597	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	G	NM_004391		42917302	-1	no_errors	ENST00000316161	ensembl	human	known	70_37	missense	SNP	0.097	A	A	42917302	G	A	42917302	3	1	97	1	0	0	0	0	1	0	0	0	4203	942	33	1	1502	1	CYP8B1	3	42917302	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4874316	42917302	155105128	123	13847										
ZMYND10	51364	genome.wustl.edu	37	chr3	50379941	50379941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccgtccaacttgctcagctTttgctgctctgagggggcca	11	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:50379941T>C	ENST00000231749.3	-	8	2032	c.760A>G	c.(760-762)Aag>Gag	p.K254E	RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.K249E	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	254					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGCTCAGCTTTTGCTGCTCT	0.592										TSP Lung(30;0.18)																																							0													87	70	76					3																	50379941		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.760A>G	3.37:g.50379941T>C	ENSP00000231749:p.Lys254Glu		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.K254E	ENST00000231749.3	37	c.760	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705627	0.89018	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.77	5.77	0.91146	.	0.089879	0.85682	D	0.000000	T	0.71187	0.3310	M	0.85630	2.765	0.58432	D	0.999993	P;P	0.41232	0.743;0.626	P;B	0.44359	0.447;0.176	T	0.74512	-0.3641	8	.	.	.	-40.6678	14.6688	0.68929	0.0:0.0:0.0:1.0	.	249;254	O75800-2;O75800	.;ZMY10_HUMAN	E	254;249;211	.	.	K	-	1	0	ZMYND10	50354945	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.015000	0.88690	2.215000	0.71742	0.459000	0.35465	AAG	ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.592	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	T	NM_015896		50379941	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50379941	T	C	50379941	3	2	97	1	0	0	0	0	1	0	0	0	17735	1850	64	5	582	5	ZMYND10	3	50379941	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	7462639	50379941	147642489	124	13848										
RAD54L2	23132	genome.wustl.edu	37	chr3	51696554	51696554	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtctctcctgacagcccagaGatcatcagtgagcttcagca	9	13	4	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:51696554G>C	ENST00000409535.2	+	22	3647	c.3522G>C	c.(3520-3522)gaG>gaC	p.E1174D	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E868D	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1174						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.E1174D(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACAGCCCAGAGATCATCAGTG	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)											57	60	59					3																	51696554		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3522G>C	3.37:g.51696554G>C	ENSP00000386520:p.Glu1174Asp		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1174D	ENST00000409535.2	37	c.3522	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.952208|2.952208	0.53293|0.53293	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.94232	.|-3.3;-3.38	5.4|5.4	3.58|3.58	0.41010|0.41010	.|.	.|0.112431	.|0.64402	.|D	.|0.000010	D|D	0.90421|0.90421	0.7001|0.7001	N|N	0.24115|0.24115	0.695|0.695	0.32626|0.32626	N|N	0.522691|0.522691	.|D;D	.|0.61080	.|0.989;0.989	.|P;P	.|0.55391	.|0.775;0.696	D|D	0.89130|0.89130	0.3509|0.3509	5|10	.|0.33940	.|T	.|0.23	-18.5438|-18.5438	8.0748|8.0748	0.30710|0.30710	0.3296:0.0:0.6704:0.0|0.3296:0.0:0.6704:0.0	.|.	.|1174;763	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	H|D	1003|1174;868	.|ENSP00000386520:E1174D;ENSP00000296477:E868D	.|ENSP00000296477:E868D	D|E	+|+	1|3	0|2	RAD54L2|RAD54L2	51671594|51671594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.513000|1.513000	0.35823|0.35823	0.621000|0.621000	0.30232|0.30232	0.563000|0.563000	0.77884|0.77884	GAT|GAG	RAD54L2	-	NULL		0.647	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51696554	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51696554	G	C	51696554	3	2	97	1	0	0	0	0	1	0	0	0	13024	933	33	1	3604	1	RAD54L2	3	51696554	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1316613	51696554	146325876	125	13849										
TLR9	54106	genome.wustl.edu	37	chr3	52257135	52257135	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcctggttgatgaagttcatCtgcagacgcagagtctggag	14	8	3	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:52257135C>G	ENST00000360658.2	-	2	1830	c.1197G>C	c.(1195-1197)caG>caC	p.Q399H	TLR9_ENST00000494383.1_Missense_Mutation_p.D553H|TLR9_ENST00000597542.1_Missense_Mutation_p.Q423H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	399					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TGAAGTTCATCTGCAGACGCA	0.627																																																	0													63	65	65					3																	52257135		2203	4300	6503	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1197G>C	3.37:g.52257135C>G	ENSP00000353874:p.Gln399His		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.Q423H	ENST00000360658.2	37	c.1269	CCDS2848.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392197|3.392197	0.62066|0.62066	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.41758	.|0.99	5.08|5.08	0.953|0.953	0.19590|0.19590	.|.	.|0.000000	.|0.36374	.|N	.|0.002631	T|T	0.41719|0.41719	0.1171|0.1171	L|L	0.42245|0.42245	1.32|1.32	0.30138|0.30138	N|N	0.804168|0.804168	.|D;P	.|0.57899	.|0.981;0.944	.|P;P	.|0.55161	.|0.687;0.77	T|T	0.37197|0.37197	-0.9716|-0.9716	5|9	.|.	.|.	.|.	.|.	6.7039|6.7039	0.23240|0.23240	0.0:0.6271:0.1298:0.2431|0.0:0.6271:0.1298:0.2431	.|.	.|496;399	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	H|H	553|399	.|ENSP00000353874:Q399H	.|.	D|Q	-|-	1|3	0|2	RP11-330H6.5|TLR9	52232175|52232175	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.786000|0.786000	0.44442|0.44442	-1.438000|-1.438000	0.02416|0.02416	0.247000|0.247000	0.21414|0.21414	-0.137000|-0.137000	0.14449|0.14449	GAT|CAG	TLR9	-	smart_Leu-rich_rpt_typical-subtyp		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	HGNC	protein_coding	OTTHUMT00000350203.1	C			52257135	-1	no_errors	ENST00000597542	ensembl	human	known	70_37	missense	SNP	0.992	G	G	52257135	C	G	52257135	3	3	97	1	0	0	0	0	1	0	0	0	15988	912	32	1	1905	1	TLR9	3	52257135	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	560581	52257135	145765295	126	13850										
DNAH1	25981	genome.wustl.edu	37	chr3	52412643	52412643	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gccccccacattgcccacttCacggagccccttgtggaagc	9	18	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:52412643C>T	ENST00000420323.2	+	47	7485	c.7224C>T	c.(7222-7224)ttC>ttT	p.F2408F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2408	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGCCCACTTCACGGAGCCCC	0.617																																																	0													98	109	105					3																	52412643		2008	4170	6178	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7224C>T	3.37:g.52412643C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.F2408	ENST00000420323.2	37	c.7224	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52412643	1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.004	T	T	52412643	C	T	52412643	2	4	97	1	0	0	0	0	0	0	0	1	4607	825	29	1		1	DNAH1	3	52412643	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	155508	52412643	145609787	127	13851										
C3orf64	285203	genome.wustl.edu	37	chr3	69054329	69054329	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgtttcttaaatcaagataGagattggttgctctgcagta	9	5	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:69054329G>A	ENST00000383701.3	-	7	1219	c.477C>T	c.(475-477)ctC>ctT	p.L159L	EOGT_ENST00000295571.5_Silent_p.L159L|EOGT_ENST00000540764.1_Silent_p.L58L|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	159					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										AATCAAGATAGAGATTGGTTG	0.358																																																	0													117	118	118					3																	69054329		2203	4300	6503	SO:0001819	synonymous_variant	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.477C>T	3.37:g.69054329G>A			A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	pfam_Glycosyltransferase_AER61	p.L159	ENST00000383701.3	37	c.477		3																																																																																			EOGT	-	pfam_Glycosyltransferase_AER61		0.358	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	G	NM_173654		69054329	-1	no_errors	ENST00000383701	ensembl	human	known	70_37	silent	SNP	0.996	A	A	69054329	G	A	69054329	2	1	97	1	0	0	0	0	0	0	0	1	2245	929	33	1		1	C3orf64	3	69054329	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	16641686	69054329	128968101	128	13852										
CNTN3	5067	genome.wustl.edu	37	chr3	74535633	74535633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actgaagtttggcttctctgCtgacaattgttccaagtgaa	9	8	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:74535633C>T	ENST00000263665.6	-	3	359	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	111	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGCTTCTCTGCTGACAATTGT	0.348																																																	0													133	129	130					3																	74535633		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.332G>A	3.37:g.74535633C>T	ENSP00000263665:p.Ser111Asn		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S111N	ENST00000263665.6	37	c.332	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830698	0.91036	.	.	ENSG00000113805	ENST00000263665	T	0.68479	-0.33	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047654	0.85682	D	0.000000	D	0.87497	0.6192	H	0.95574	3.69	0.58432	D	0.999994	D	0.76494	0.999	D	0.77004	0.989	D	0.90603	0.4546	10	0.87932	D	0	.	17.6078	0.88044	0.0:1.0:0.0:0.0	.	111	Q9P232	CNTN3_HUMAN	N	111	ENSP00000263665:S111N	ENSP00000263665:S111N	S	-	2	0	CNTN3	74618323	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.093000	0.64517	2.763000	0.94921	0.585000	0.79938	AGC	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.348	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	C	NM_020872		74535633	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74535633	C	T	74535633	3	4	97	1	0	0	0	0	1	0	0	0	3647	797	28	4	2834	4	CNTN3	3	74535633	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5481304	74535633	123486797	129	13853										
ROBO1	6091	genome.wustl.edu	37	chr3	78666904	78666904	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgtccgaagaactaacactgGagcgtccgctggaaatgttg	12	10	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:78666904G>C	ENST00000464233.1	-	27	4276	c.4163C>G	c.(4162-4164)tCc>tGc	p.S1388C	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1288C|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1343C|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1349C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1388					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTAACACTGGAGCGTCCGCT	0.587																																																	0													54	61	59					3																	78666904		1974	4140	6114	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4163C>G	3.37:g.78666904G>C	ENSP00000420321:p.Ser1388Cys		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1388C	ENST00000464233.1	37	c.4163	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528475	0.64860	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.75367	-0.69;-0.73;-0.73;-0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	N	0.20685	0.6	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.995;1.0;0.998;0.999	D;P;D;P;D	0.83275	0.995;0.662;0.996;0.887;0.977	T	0.76214	-0.3041	9	.	.	.	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	1352;1388;1343;1288;1349	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	C	1349;1343;1388;1343;1288;1392	ENSP00000406043:S1349C;ENSP00000420321:S1388C;ENSP00000420637:S1343C;ENSP00000417992:S1288C	.	S	-	2	0	ROBO1	78749594	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	9.420000	0.97426	2.838000	0.97847	0.591000	0.81541	TCC	ROBO1	-	NULL		0.587	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78666904	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78666904	G	C	78666904	3	2	97	1	0	0	0	0	1	0	0	0	13543	1174	41	1	812	1	ROBO1	3	78666904	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4131271	78666904	119355526	130	13854										
SENP7	57337	genome.wustl.edu	37	chr3	101044797	101044797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tacagattaactagctactgCtgcccttctgttgctgtaaa	7	10	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:101044797C>T	ENST00000394095.2	-	24	3196	c.3143G>A	c.(3142-3144)aGc>aAc	p.S1048N	SENP7_ENST00000394091.1_Missense_Mutation_p.S884N|SENP7_ENST00000394085.3_Missense_Mutation_p.S236N|SENP7_ENST00000394094.2_Missense_Mutation_p.S983N|SENP7_ENST00000314261.7_Missense_Mutation_p.S982N|SENP7_ENST00000358203.3_Missense_Mutation_p.S884N|SENP7_ENST00000348610.3_Missense_Mutation_p.S1015N	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1048	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTAGCTACTGCTGCCCTTCTG	0.403																																																	0													160	143	149					3																	101044797		2203	4300	6503	SO:0001583	missense	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.3143G>A	3.37:g.101044797C>T	ENSP00000377655:p.Ser1048Asn		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.S1048N	ENST00000394095.2	37	c.3143	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504313	0.26949	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.33216	2.02;2.03;2.04;2.03;2.03;1.42;2.02	5.41	5.41	0.78517	.	0.235944	0.46145	D	0.000315	T	0.28167	0.0695	L	0.53249	1.67	0.24052	N	0.996049	B;B;B;B;B	0.32365	0.319;0.173;0.367;0.108;0.011	B;B;B;B;B	0.29077	0.041;0.061;0.098;0.025;0.016	T	0.33599	-0.9862	10	0.72032	D	0.01	-2.4884	10.1318	0.42682	0.0:0.8504:0.0:0.1496	.	884;982;1015;1048;236	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	N	1048;983;982;884;884;236;1015	ENSP00000377655:S1048N;ENSP00000377654:S983N;ENSP00000313624:S982N;ENSP00000377651:S884N;ENSP00000350936:S884N;ENSP00000377647:S236N;ENSP00000342159:S1015N	ENSP00000313624:S982N	S	-	2	0	SENP7	102527487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.154000	0.31688	2.694000	0.91930	0.585000	0.79938	AGC	SENP7	-	NULL		0.403	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	C	NM_020654		101044797	-1	no_errors	ENST00000394095	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101044797	C	T	101044797	3	4	97	1	0	0	0	0	1	0	0	0	14081	797	28	4	13	4	SENP7	3	101044797	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	22377893	101044797	96977633	131	13855										
IFT57	55081	genome.wustl.edu	37	chr3	107941091	107941091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccccgctccaagaccacttCcccggtcccttcgccacggg	8	22	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:107941091C>T	ENST00000264538.3	-	1	326	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	27					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AAGACCACTTCCCCGGTCCCT	0.637																																																	0													42	44	43					3																	107941091		2203	4300	6503	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.79G>A	3.37:g.107941091C>T	ENSP00000264538:p.Glu27Lys		Q96DA9	Missense_Mutation	SNP	pfam_Intra-flagellar_transport_57,superfamily_t-SNARE	p.E27K	ENST00000264538.3	37	c.79	CCDS2951.1	3	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147885	0.57151	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	4.93	4.05	0.47172	.	0.331910	0.36628	N	0.002494	T	0.31796	0.0808	N	0.24115	0.695	0.30713	N	0.749037	B	0.02656	0.0	B	0.04013	0.001	T	0.13737	-1.0498	9	0.24483	T	0.36	.	12.3908	0.55358	0.0:0.9178:0.0:0.0822	.	27	Q9NWB7	IFT57_HUMAN	K	27	.	ENSP00000264538:E27K	E	-	1	0	IFT57	109423781	0.971000	0.33674	0.998000	0.56505	0.617000	0.37484	1.831000	0.39141	2.710000	0.92621	0.557000	0.71058	GAA	IFT57	-	NULL		0.637	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT57	HGNC	protein_coding	OTTHUMT00000353918.1	C	NM_018010		107941091	-1	no_errors	ENST00000264538	ensembl	human	known	70_37	missense	SNP	0.965	T	T	107941091	C	T	107941091	3	4	97	1	0	0	0	0	1	0	0	0	7582	864	30	1	1254	1	IFT57	3	107941091	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6896294	107941091	90081339	132	13856										
MYH15	22989	genome.wustl.edu	37	chr3	108129586	108129586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcgtgcttctgcttccagtCggcaagggccttgccagact	11	14	1	1	rs1078456	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:108129586C>G	ENST00000273353.3	-	32	4455	c.4399G>C	c.(4399-4401)Gac>Cac	p.D1467H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1467			D -> N (in dbSNP:rs1078456).			cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGCTTCCAGTCGGCAAGGGCC	0.612																																																	0													48	48	48					3																	108129586		2042	4207	6249	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4399G>C	3.37:g.108129586C>G	ENSP00000273353:p.Asp1467His			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.D1467H	ENST00000273353.3	37	c.4399	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076100	0.36662	.	.	ENSG00000144821	ENST00000273353	T	0.78246	-1.16	5.15	2.36	0.29203	Myosin tail (1);	.	.	.	.	D	0.85818	0.5785	M	0.78049	2.395	0.35601	D	0.807857	D	0.58970	0.984	D	0.68765	0.96	D	0.88470	0.3061	9	0.87932	D	0	.	10.7695	0.46314	0.0:0.7893:0.0:0.2107	.	1467	Q9Y2K3	MYH15_HUMAN	H	1467	ENSP00000273353:D1467H	ENSP00000273353:D1467H	D	-	1	0	MYH15	109612276	0.962000	0.33011	0.005000	0.12908	0.002000	0.02628	2.996000	0.49449	0.586000	0.29626	-0.258000	0.10820	GAC	MYH15	-	pfam_Myosin_tail		0.612	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108129586	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.949	G	G	108129586	C	G	108129586	3	3	97	1	0	0	0	0	1	0	0	0	10057	884	31	1	1485	1	MYH15	3	108129586	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	188495	108129586	89892844	133	13857										
MORC1	27136	genome.wustl.edu	37	chr3	108813772	108813772	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttaccacattttccatagatCacatcaaactgctgcatcaa	3	12	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:108813772C>G	ENST00000483760.1	-	7	610	c.567G>C	c.(565-567)gtG>gtC	p.V189V	MORC1_ENST00000232603.5_Silent_p.V189V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCATAGATCACATCAAACT	0.323																																																	0													43	45	44					3																	108813772		2202	4297	6499	SO:0001819	synonymous_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.567G>C	3.37:g.108813772C>G				Silent	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.V189	ENST00000483760.1	37	c.567		3																																																																																			MORC1	-	superfamily_ATPase-like_ATP-bd		0.323	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	C			108813772	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	silent	SNP	0.985	G	G	108813772	C	G	108813772	2	3	97	1	0	0	0	0	0	0	0	1	9724	813	29	1		1	MORC1	3	108813772	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	684186	108813772	89208658	134	13858										
GCET2	257144	genome.wustl.edu	37	chr3	111845843	111845843	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caatgacttactttcgttttGggaatcttgcctcttttcaa	6	9	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:111845843G>A	ENST00000308910.4	-	4	365	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	GCSAM_ENST00000484193.1_Nonsense_Mutation_p.Q63*|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	61					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CTTTCGTTTTGGGAATCTTGC	0.318																																																	0													69	77	74					3																	111845843		2202	4299	6501	SO:0001587	stop_gained	257144			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.181C>T	3.37:g.111845843G>A	ENSP00000309487:p.Gln61*		C9JD17|C9JUG6	Nonsense_Mutation	SNP	NULL	p.Q61*	ENST00000308910.4	37	c.181	CCDS2964.1	3	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958828	0.53400	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.79	2.94	0.34122	.	1.478470	0.04220	N	0.333358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9897	7.9982	0.30280	0.0:0.1758:0.6416:0.1825	.	.	.	.	X	61;63;46;44;44	.	ENSP00000309487:Q61X	Q	-	1	0	GCET2	113328533	0.003000	0.15002	0.001000	0.08648	0.090000	0.18270	0.953000	0.29162	0.893000	0.36288	0.655000	0.94253	CAA	GCSAM	-	NULL		0.318	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GCSAM	HGNC	protein_coding	OTTHUMT00000353967.2	G	NM_152785		111845843	-1	no_errors	ENST00000308910	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	111845843	G	A	111845843	4	1	97	1	0	0	0	0	0	1	0	0	6307	1357	47	4	367	4	GCET2	3	111845843	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3032071	111845843	86176587	135	13859										
PLA1A	51365	genome.wustl.edu	37	chr3	119325689	119325689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaacctttttgaaggcaccGatctcaaagtccagtttctc	6	13	2	1	rs527683151	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:119325689G>A	ENST00000273371.4	+	2	214	c.142G>A	c.(142-144)Gat>Aat	p.D48N	PLA1A_ENST00000495992.1_Missense_Mutation_p.D48N|PLA1A_ENST00000494440.1_Missense_Mutation_p.D32N|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	48					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAAGGCACCGATCTCAAAGT	0.507													G|||	2	0.000399361	0	0	5008	,	,		21055	0		0	False		,,,				2504	0.002																0													132	133	133					3																	119325689		2203	4300	6503	SO:0001583	missense	51365			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.142G>A	3.37:g.119325689G>A	ENSP00000273371:p.Asp48Asn		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.D48N	ENST00000273371.4	37	c.142	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.401812	0.01165	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91011	-2.64;-2.77;-2.64	5.04	1.35	0.21983	Lipase, N-terminal (1);	0.336884	0.37393	N	0.002108	T	0.70570	0.3239	N	0.02708	-0.52	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57808	-0.7747	10	0.20046	T	0.44	-2.3772	2.3923	0.04381	0.604:0.158:0.0865:0.1515	.	48;48	Q53H76-3;Q53H76	.;PLA1A_HUMAN	N	48;48;32	ENSP00000273371:D48N;ENSP00000417326:D48N;ENSP00000418793:D32N	ENSP00000273371:D48N	D	+	1	0	PLA1A	120808379	0.886000	0.30341	0.062000	0.19696	0.001000	0.01503	2.847000	0.48270	0.143000	0.18926	-1.710000	0.00715	GAT	PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	G			119325689	1	no_errors	ENST00000273371	ensembl	human	known	70_37	missense	SNP	0.260	A	A	119325689	G	A	119325689	3	1	97	1	0	0	0	0	1	0	0	0	12012	1058	37	1	148	1	PLA1A	3	119325689	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7479846	119325689	78696741	136	13860										
POLQ	10721	genome.wustl.edu	37	chr3	121208086	121208086	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacaattgatagtaacatttGagtctctatttatgtaacta	5	6	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:121208086G>C	ENST00000264233.5	-	16	3820	c.3692C>G	c.(3691-3693)tCa>tGa	p.S1231*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1231					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)			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)		AGTAACATTTGAGTCTCTATT	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													180	187	185					3																	121208086		2203	4300	6503	SO:0001587	stop_gained	10721			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.3692C>G	3.37:g.121208086G>C	ENSP00000264233:p.Ser1231*		O95160|Q6VMB5	Nonsense_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.S1231*	ENST00000264233.5	37	c.3692	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.872995	0.98537	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.45	2.49	0.30216	.	0.722774	0.13279	N	0.399875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.5017	0.07676	0.2869:0.0:0.5237:0.1895	.	.	.	.	X	854;1231;1367	.	ENSP00000264233:S1231X	S	-	2	0	POLQ	122690776	0.000000	0.05858	0.057000	0.19452	0.659000	0.38960	0.091000	0.15046	0.869000	0.35703	-0.244000	0.11960	TCA	POLQ	-	NULL		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121208086	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	121208086	G	C	121208086	4	2	97	1	0	0	0	0	0	1	0	0	12232	1294	45	1	4140	1	POLQ	3	121208086	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1882397	121208086	76814344	137	13861										
POLQ	10721	genome.wustl.edu	37	chr3	121240856	121240856	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taaatatgaaatacctgcatGatgaaatgctactccccatg	6	9	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:121240856G>C	ENST00000264233.5	-	8	1377	c.1249C>G	c.(1249-1251)Cat>Gat	p.H417D	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	417	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)		ATACCTGCATGATGAAATGCT	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													88	91	90					3																	121240856		2203	4300	6503	SO:0001583	missense	10721			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.1249C>G	3.37:g.121240856G>C	ENSP00000264233:p.His417Asp		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.H417D	ENST00000264233.5	37	c.1249	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447284	0.84101	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.41758	0.99	4.95	4.95	0.65309	Helicase, C-terminal (3);	0.135896	0.64402	N	0.000003	T	0.80154	0.4571	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89096	0.3486	10	0.87932	D	0	.	17.5456	0.87860	0.0:0.0:1.0:0.0	.	417	O75417	DPOLQ_HUMAN	D	40;417;554	ENSP00000264233:H417D	ENSP00000264233:H417D	H	-	1	0	POLQ	122723546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.490000	0.90464	2.453000	0.82957	0.591000	0.81541	CAT	POLQ	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121240856	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121240856	G	C	121240856	3	2	97	1	0	0	0	0	1	0	0	0	12232	1290	45	1	6615	1	POLQ	3	121240856	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	32770	121240856	76781574	138	13862										
PARP9	83666	genome.wustl.edu	37	chr3	122269447	122269447	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttaccttatatatctccaaaTctgttggaaagatcacaaat	4	8	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:122269447T>A	ENST00000360356.2	-	6	1642	c.1415A>T	c.(1414-1416)gAt>gTt	p.D472V	PARP9_ENST00000492382.1_Splice_Site_p.D17V|PARP9_ENST00000477522.2_Missense_Mutation_p.D437V|PARP9_ENST00000462315.1_Missense_Mutation_p.D437V|PARP9_ENST00000471785.1_Missense_Mutation_p.D437V	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	472	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TATCTCCAAATCTGTTGGAAA	0.313																																																	0													68	67	67					3																	122269447		2203	4299	6502	SO:0001583	missense	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1415A>T	3.37:g.122269447T>A	ENSP00000353512:p.Asp472Val		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D472V	ENST00000360356.2	37	c.1415	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288260	0.59976	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.26518	1.73;2.65;1.73;1.73;1.73	4.26	4.26	0.50523	Appr-1-p processing (1);	0.731716	0.12709	N	0.445657	T	0.53045	0.1772	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.69078	0.995;0.981;0.996;0.997	P;P;D;D	0.65140	0.813;0.77;0.925;0.932	T	0.56878	-0.7906	10	0.66056	D	0.02	.	12.636	0.56683	0.0:0.0:0.0:1.0	.	437;472;17;437	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	V	472;17;437;437;395;437	ENSP00000353512:D472V;ENSP00000417664:D17V;ENSP00000419506:D437V;ENSP00000419001:D437V;ENSP00000418894:D437V	ENSP00000353512:D472V	D	-	2	0	PARP9	123752137	1.000000	0.71417	0.014000	0.15608	0.001000	0.01503	6.554000	0.73923	1.936000	0.56123	0.533000	0.62120	GAT	PARP9	-	pfscan_A1pp		0.313	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	T	NM_031458		122269447	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	missense	SNP	0.949	A	A	122269447	T	A	122269447	3	1	97	1	0	0	0	0	1	0	0	0	11490	1435	50	5	1226	5	PARP9	3	122269447	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	1028591	122269447	75752983	139	13863										
H1FOO	132243	genome.wustl.edu	37	chr3	129270146	129270146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgggctgcccatcaaggcctCatcatccaaagtgtccagcc	9	15	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:129270146C>T	ENST00000324382.2	+	5	1009	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	H1FOO_ENST00000503977.1_Missense_Mutation_p.S196L	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	335					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						ATCAAGGCCTCATCATCCAAA	0.577																																																	0													22	26	24					3																	129270146		2203	4300	6503	SO:0001583	missense	132243			AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"Histones / Replication-independent"	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.1004C>T	3.37:g.129270146C>T	ENSP00000319799:p.Ser335Leu		Q86WT7	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5	p.S335L	ENST00000324382.2	37	c.1004	CCDS3064.1	3	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820744	0.50633	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.61392	0.24;0.11	5.11	2.29	0.28610	.	10.205600	0.00481	N	0.000132	T	0.52661	0.1748	L	0.46157	1.445	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.32295	-0.9912	10	0.54805	T	0.06	0.0291	5.5501	0.17086	0.0:0.6575:0.1625:0.18	.	335	Q8IZA3	H1FOO_HUMAN	L	335;196	ENSP00000319799:S335L;ENSP00000422964:S196L	ENSP00000319799:S335L	S	+	2	0	H1FOO	130752836	0.019000	0.18553	0.000000	0.03702	0.001000	0.01503	3.653000	0.54446	0.259000	0.21709	-0.291000	0.09656	TCA	H1FOO	-	NULL		0.577	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FOO	HGNC	protein_coding	OTTHUMT00000356100.3	C	NM_153833		129270146	1	no_errors	ENST00000324382	ensembl	human	known	70_37	missense	SNP	0.000	T	T	129270146	C	T	129270146	3	4	97	1	0	0	0	0	1	0	0	0	6942	838	29	1	1022	1	H1FOO	3	129270146	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7000699	129270146	68752284	140	13864										
PLXND1	23129	genome.wustl.edu	37	chr3	129284253	129284253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaccacagactctgtgcgcCgcagcatgagcttggggttc	12	14	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:129284253C>T	ENST00000324093.4	-	25	4629	c.4451G>A	c.(4450-4452)cGg>cAg	p.R1484Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1484Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1484					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCTGTGCGCCGCAGCATGAG	0.602																																					Ovarian(97;366 1484 3738 22084 39045)												0													114	101	105					3																	129284253		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4451G>A	3.37:g.129284253C>T	ENSP00000317128:p.Arg1484Gln		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1484Q	ENST00000324093.4	37	c.4451	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346411	0.82022	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.48836	0.8;0.8	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.123057	0.49916	D	0.000126	T	0.74688	0.3749	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	T	0.81017	-0.1123	10	0.87932	D	0	.	18.2337	0.89942	0.0:1.0:0.0:0.0	.	79;1484	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	Q	1484	ENSP00000317128:R1484Q;ENSP00000376931:R1484Q	ENSP00000317128:R1484Q	R	-	2	0	PLXND1	130766943	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.800000	0.85949	2.294000	0.77228	0.561000	0.74099	CGG	PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	C	NM_015103		129284253	-1	no_errors	ENST00000324093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129284253	C	T	129284253	3	4	97	1	0	0	0	0	1	0	0	0	12151	652	23	2	1374	2	PLXND1	3	129284253	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	14107	129284253	68738177	141	13865										
NPHP3	27031	genome.wustl.edu	37	chr3	132408001	132408001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actcatgttgtcctcgccttCgcagtttttctcatactgct	6	13	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:132408001C>T	ENST00000337331.5	-	20	2886	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	934					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTCGCCTTCGCAGTTTTTC	0.438																																																	0													145	134	138					3																	132408001		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2800G>A	3.37:g.132408001C>T	ENSP00000338766:p.Glu934Lys		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E934K	ENST00000337331.5	37	c.2800	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817528	0.70912	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91464	-2.85	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.206713	0.49305	D	0.000150	D	0.84224	0.5425	L	0.32530	0.975	0.80722	D	1	P	0.40681	0.727	B	0.27262	0.078	T	0.83265	-0.0046	10	0.28530	T	0.3	-8.2525	20.1859	0.98214	0.0:1.0:0.0:0.0	.	934	Q7Z494	NPHP3_HUMAN	K	214;934	ENSP00000338766:E934K	ENSP00000338766:E934K	E	-	1	0	NPHP3	133890691	1.000000	0.71417	0.917000	0.36280	0.706000	0.40770	5.535000	0.67173	2.777000	0.95525	0.591000	0.81541	GAA	NPHP3	-	NULL		0.438	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	C	NM_153240		132408001	-1	no_errors	ENST00000337331	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132408001	C	T	132408001	3	4	97	1	0	0	0	0	1	0	0	0	10604	893	31	1	1224	1	NPHP3	3	132408001	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3123748	132408001	65614429	142	13866										
ZBTB38	253461	genome.wustl.edu	37	chr3	141164487	141164487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaccctcaaaatccatgaaaGaatccatactggagaaaagc	7	10	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:141164487G>C	ENST00000514251.1	+	4	3536	c.3257G>C	c.(3256-3258)aGa>aCa	p.R1086T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1087T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1086T					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATCCATGAAAGAATCCATACT	0.443																																																	0													86	85	85					3																	141164487		1967	4168	6135	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3257G>C	3.37:g.141164487G>C	ENSP00000426387:p.Arg1086Thr			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R1087T	ENST00000514251.1	37	c.3260	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888194	0.52014	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.25414	1.8;1.8;1.8	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.85630	2.765	0.23665	N	0.997163	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.55566	-0.8121	9	.	.	.	-9.0379	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1087;1086	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	1086;1086;1087	ENSP00000426387:R1086T;ENSP00000406955:R1086T;ENSP00000372635:R1087T	.	R	+	2	0	ZBTB38	142647177	1.000000	0.71417	0.074000	0.20217	0.998000	0.95712	6.454000	0.73493	2.713000	0.92767	0.655000	0.94253	AGA	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141164487	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.434	C	C	141164487	G	C	141164487	3	2	97	1	0	0	0	0	1	0	0	0	17569	942	33	1	3259	1	ZBTB38	3	141164487	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8756486	141164487	56857943	143	13867										
RASA2	5922	genome.wustl.edu	37	chr3	141291535	141291535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atagtgggagggcactacctGaaagtaacattaaaacctat	9	7	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:141291535G>A	ENST00000452898.1	+	12	1289	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	RASA2_ENST00000286364.3_Silent_p.L418L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	418	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GGCACTACCTGAAAGTAACAT	0.358																																																	0													108	106	107					3																	141291535		2203	4300	6503	SO:0001819	synonymous_variant	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1254G>A	3.37:g.141291535G>A			A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.L418	ENST00000452898.1	37	c.1254		3																																																																																			RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.358	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141291535	1	no_errors	ENST00000452898	ensembl	human	known	70_37	silent	SNP	1.000	A	A	141291535	G	A	141291535	2	1	97	1	0	0	0	0	0	0	0	1	13091	1277	45	1		1	RASA2	3	141291535	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	127048	141291535	56730895	144	13868										
PLCH1	23007	genome.wustl.edu	37	chr3	155314020	155314020	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaattcaaagatttgttttaCtttttgccttctcactcttc	4	9	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:155314020C>G	ENST00000340059.7	-	2	190		c.e2+1		PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000460012.1_Splice_Site	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTTGTTTTACTTTTTGCCTT	0.468																																																	0													186	196	193					3																	155314020		2203	4300	6503	SO:0001630	splice_region_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.190+1G>C	3.37:g.155314020C>G			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	-	e2+1	ENST00000340059.7	37	c.190+1	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423621	0.83559	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2892	0.90123	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCH1	156796714	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.665000	0.83852	2.311000	0.77944	0.655000	0.94253	.	PLCH1	-	-		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996	Intron	155314020	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	155314020	C	G	155314020	5	3	97	1	0	0	0	0	0	0	1	0	12061	579	20	4	4993	4	PLCH1	3	155314020	Splice_Site	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	14022485	155314020	42708410	145	13869										
GMPS	8833	genome.wustl.edu	37	chr3	155654232	155654232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccagagatctgtggttattcGaacctttattactagtgact	8	8	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:155654232G>A	ENST00000496455.2	+	15	2248	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	GMPS_ENST00000295920.7_Missense_Mutation_p.R539Q	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	638					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GTGGTTATTCGAACCTTTATT	0.418			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													139	131	133					3																	155654232		1857	4100	5957	SO:0001583	missense	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1913G>A	3.37:g.155654232G>A	ENSP00000419851:p.Arg638Gln		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.R638Q	ENST00000496455.2	37	c.1913	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.775356	0.96922	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.53	5.53	0.82687	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90717	0.4632	9	0.87932	D	0	-8.3422	19.4655	0.94935	0.0:0.0:1.0:0.0	.	539;638	F8W720;P49915	.;GUAA_HUMAN	Q	638;539;587;638	.	ENSP00000295920:R539Q	R	+	2	0	GMPS	157136926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.303000	0.96183	2.580000	0.87095	0.561000	0.74099	CGA	GMPS	-	pfam_GMP_synth_C		0.418	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	G			155654232	1	no_errors	ENST00000496455	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155654232	G	A	155654232	3	1	97	1	0	0	0	0	1	0	0	0	6517	1058	37	1	1971	1	GMPS	3	155654232	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	340212	155654232	42368198	146	13870										
SMC4	10051	genome.wustl.edu	37	chr3	160150959	160150959	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgagattgatgcagcccttGattttaaaaatgtgtccatt	8	6	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:160150959G>C	ENST00000357388.3	+	23	4127	c.3676G>C	c.(3676-3678)Gat>Cat	p.D1226H	SMC4_ENST00000469762.1_Missense_Mutation_p.D1201H|SMC4_ENST00000344722.5_Missense_Mutation_p.D1226H|SMC4_ENST00000462787.1_Missense_Mutation_p.D1168H|TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.D1168H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1226	Ala/Asp-rich (DA-box).				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCAGCCCTTGATTTTAAAAA	0.363																																																	0													138	135	136					3																	160150959		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3676G>C	3.37:g.160150959G>C	ENSP00000349961:p.Asp1226His		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.D1226H	ENST00000357388.3	37	c.3676	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020924	0.93462	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.83	5.83	0.93111	RecF/RecN/SMC (1);	0.094982	0.64402	D	0.000001	D	0.95943	0.8679	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96513	0.9380	10	0.87932	D	0	-33.7955	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1168;1201;1201;1226	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1226;1168;1201;1168;1226;820	ENSP00000349961:D1226H;ENSP00000353225:D1168H;ENSP00000417964:D1201H;ENSP00000420734:D1168H;ENSP00000341382:D1226H	ENSP00000341382:D1226H	D	+	1	0	SMC4	161633653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.770000	0.95276	0.655000	0.94253	GAT	SMC4	-	pfam_RecF/RecN/SMC		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160150959	1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160150959	G	C	160150959	3	2	97	1	0	0	0	0	1	0	0	0	14815	1290	45	1	3762	1	SMC4	3	160150959	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4496727	160150959	37871471	147	13871										
NMD3	51068	genome.wustl.edu	37	chr3	160965077	160965077	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaactgtaacttaaatgatGagcatgtcaacaaaatgaac	6	8	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:160965077G>A	ENST00000460469.1	+	12	1617	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	NMD3_ENST00000472947.1_Missense_Mutation_p.E388K|NMD3_ENST00000351193.2_Missense_Mutation_p.E388K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	388					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTTAAATGATGAGCATGTCAA	0.333																																																	0													176	170	172					3																	160965077		2203	4300	6503	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1162G>A	3.37:g.160965077G>A	ENSP00000419004:p.Glu388Lys		D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.E388K	ENST00000460469.1	37	c.1162	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809952	0.50421	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.44482	0.93;0.92;0.93	4.81	4.81	0.61882	.	0.109252	0.64402	D	0.000009	T	0.44498	0.1296	M	0.76170	2.325	0.80722	D	1	B;B;B	0.18166	0.009;0.026;0.011	B;B;B	0.19391	0.015;0.025;0.003	T	0.42515	-0.9447	10	0.12103	T	0.63	-14.9259	17.7312	0.88378	0.0:0.0:1.0:0.0	.	388;388;388	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	K	388;388;388;268	ENSP00000307525:E388K;ENSP00000417559:E388K;ENSP00000419004:E388K	ENSP00000307525:E388K	E	+	1	0	NMD3	162447771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.787000	0.91830	2.598000	0.87819	0.650000	0.86243	GAG	NMD3	-	NULL		0.333	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	G	NM_015938		160965077	1	no_errors	ENST00000351193	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160965077	G	A	160965077	3	1	97	1	0	0	0	0	1	0	0	0	10512	1291	45	1	1208	1	NMD3	3	160965077	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	814118	160965077	37057353	148	13872										
NLGN1	22871	genome.wustl.edu	37	chr3	173997105	173997105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgagagaaaccattaagttCatgtatactgactgggctga	10	6	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:173997105C>G	ENST00000457714.1	+	6	1743	c.1314C>G	c.(1312-1314)ttC>ttG	p.F438L	NLGN1_ENST00000361589.4_Missense_Mutation_p.F438L|NLGN1_ENST00000401917.3_Missense_Mutation_p.F478L|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.F438L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	455					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCATTAAGTTCATGTATACTG	0.398																																																	0													102	102	102					3																	173997105		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1314C>G	3.37:g.173997105C>G	ENSP00000392500:p.Phe438Leu		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.F478L	ENST00000457714.1	37	c.1434	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611771	0.66558	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.89	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.72624	2.21	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71945	-0.4439	10	0.48119	T	0.1	.	6.6039	0.22714	0.0:0.3726:0.0:0.6274	.	478;438	D2X2H5;Q8N2Q7-2	.;.	L	438;438;438;478	ENSP00000392500:F438L;ENSP00000354541:F438L;ENSP00000441108:F438L;ENSP00000385750:F478L	ENSP00000354541:F438L	F	+	3	2	NLGN1	175479799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.550000	0.36223	0.409000	0.25649	0.563000	0.77884	TTC	NLGN1	-	pfam_CarbesteraseB		0.398	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	C	NM_014932		173997105	1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	1.000	G	G	173997105	C	G	173997105	3	3	97	1	0	0	0	0	1	0	0	0	10485	825	29	1	1328	1	NLGN1	3	173997105	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	13032028	173997105	24025325	149	13873										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	97	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4938986	178936091	19086339	150	13874										
HTR3E	285242	genome.wustl.edu	37	chr3	183824066	183824066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccactgcaacagcccggggaGatgctgtcccactgcgcccc	11	18	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:183824066G>A	ENST00000415389.2	+	8	1542	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.R359K|HTR3E_ENST00000335304.2_Missense_Mutation_p.R374K|HTR3E_ENST00000440596.2_Missense_Mutation_p.R385K|HTR3E_ENST00000425359.2_Missense_Mutation_p.R344K	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	359					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGCCCGGGGAGATGCTGTCCC	0.657																																					Melanoma(7;227 727 6634 44770)												0													38	41	40					3																	183824066		2203	4300	6503	SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1076G>A	3.37:g.183824066G>A	ENSP00000401444:p.Arg359Lys		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.R374K	ENST00000415389.2	37	c.1121	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	g	1.373	-0.585499	0.03827	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	4.36	-4.25	0.03766	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.429190	0.03546	N	0.224756	T	0.61652	0.2364	N	0.03948	-0.315	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.002;0.001;0.002;0.003	B;B;B;B;B	0.14023	0.01;0.005;0.004;0.004;0.004	T	0.61941	-0.6959	10	0.05525	T	0.97	.	5.6054	0.17377	0.2816:0.3151:0.4033:0.0	.	385;359;359;374;344	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	K	359;344;374;359;385	ENSP00000401444:R359K;ENSP00000401900:R344K;ENSP00000335511:R374K;ENSP00000395833:R359K;ENSP00000406050:R385K	ENSP00000335511:R374K	R	+	2	0	HTR3E	185306760	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	0.160000	0.16462	-0.824000	0.04295	-0.367000	0.07326	AGA	HTR3E	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.657	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	G	NM_182589		183824066	1	no_errors	ENST00000335304	ensembl	human	known	70_37	missense	SNP	0.000	A	A	183824066	G	A	183824066	3	1	97	1	0	0	0	0	1	0	0	0	7468	942	33	1	1147	1	HTR3E	3	183824066	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4887975	183824066	14198364	151	13875										
PSMD2	5708	genome.wustl.edu	37	chr3	184019826	184019826	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggagaaggacattgatgaaaAtgcatatgcaaaggtctgcc	12	6	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:184019826A>T	ENST00000310118.4	+	5	1229	c.671A>T	c.(670-672)aAt>aTt	p.N224I	PSMD2_ENST00000439383.1_Missense_Mutation_p.N94I|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.N65I	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	224					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTGATGAAAATGCATATGCA	0.512																																					Colon(24;313 636 6917 9932 15554)												0													132	117	123					3																	184019826		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.671A>T	3.37:g.184019826A>T	ENSP00000310129:p.Asn224Ile		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.N224I	ENST00000310118.4	37	c.671	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537343	0.45176	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.25414	1.8;1.8;1.8	4.9	4.9	0.64082	Armadillo-type fold (1);	0.047411	0.85682	D	0.000000	T	0.29976	0.0750	M	0.73372	2.23	0.54753	D	0.999987	B;B	0.30406	0.001;0.278	B;B	0.24701	0.002;0.055	T	0.14364	-1.0475	10	0.59425	D	0.04	-17.4564	14.689	0.69070	1.0:0.0:0.0:0.0	.	65;224	E9PCS3;Q13200	.;PSMD2_HUMAN	I	224;216;65;94	ENSP00000310129:N224I;ENSP00000402618:N65I;ENSP00000416028:N94I	ENSP00000310129:N224I	N	+	2	0	PSMD2	185502520	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	5.814000	0.69208	2.054000	0.61138	0.438000	0.28831	AAT	PSMD2	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1		0.512	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1	A	NM_002808		184019826	1	no_errors	ENST00000310118	ensembl	human	known	70_37	missense	SNP	0.999	T	T	184019826	A	T	184019826	3	4	97	1	0	0	0	0	1	0	0	0	12725	101	4	5	689	5	PSMD2	3	184019826	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	195760	184019826	14002604	152	13876										
EHHADH	1962	genome.wustl.edu	37	chr3	184953231	184953231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaaatgtcctaggagcactGaagccacgaatatcagcacc	8	13	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:184953231G>A	ENST00000231887.3	-	3	273	c.198C>T	c.(196-198)ttC>ttT	p.F66F	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	66	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TAGGAGCACTGAAGCCACGAA	0.443																																																	0													50	47	48					3																	184953231		2203	4300	6503	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.198C>T	3.37:g.184953231G>A			A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.F66	ENST00000231887.3	37	c.198	CCDS33901.1	3																																																																																			EHHADH	-	pfam_Crotonase_core		0.443	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	G			184953231	-1	no_errors	ENST00000231887	ensembl	human	known	70_37	silent	SNP	0.451	A	A	184953231	G	A	184953231	2	1	97	1	0	0	0	0	0	0	0	1	4992	1281	45	1		1	EHHADH	3	184953231	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	933405	184953231	13069199	153	13877										
RNF212	285498	genome.wustl.edu	37	chr4	1084614	1084614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tctcttcctgtgtttttcttGaaattctaaaatctgaaaag	5	7	4	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:1084614G>C	ENST00000433731.2	-	4	320	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	RNF212_ENST00000382968.5_Missense_Mutation_p.Q87E			Q495C1	RN212_HUMAN	ring finger protein 212	87					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TGTTTTTCTTGAAATTCTAAA	0.403																																																	0													92	89	90					4																	1084614		2202	4299	6501	SO:0001583	missense	285498			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.259C>G	4.37:g.1084614G>C	ENSP00000389709:p.Gln87Glu		C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	pfscan_Znf_RING	p.Q87E	ENST00000433731.2	37	c.259	CCDS46996.1	4	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599161	0.28534	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	D;D	0.98835	-5.17;-5.17	4.07	4.07	0.47477	.	.	.	.	.	D	0.98764	0.9584	M	0.73598	2.24	0.80722	D	1	D;D;D	0.61697	0.974;0.99;0.99	D;D;D	0.73380	0.953;0.98;0.971	D	0.98372	1.0554	9	0.46703	T	0.11	-0.4513	11.9435	0.52915	0.0:0.0:1.0:0.0	.	87;87;87	Q495C1-2;Q495C1;Q495C1-5	.;RN212_HUMAN;.	E	87	ENSP00000372428:Q87E;ENSP00000389709:Q87E	ENSP00000372428:Q87E	Q	-	1	0	RNF212	1074614	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	4.214000	0.58527	2.283000	0.76528	0.436000	0.28706	CAA	RNF212	-	NULL		0.403	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	HGNC	protein_coding	OTTHUMT00000359124.2	G	NM_194439		1084614	-1	no_errors	ENST00000433731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1084614	G	C	1084614	3	2	97	1	0	0	0	0	1	0	0	0	13506	1299	45	1	662	1	RNF212	4	1084614	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		1084614	190069662	154	13878										
TADA2B	93624	genome.wustl.edu	37	chr4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgctctgggggcccgaggccGagggcggctggaccagtcgc	19	14	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:7045505G>A	ENST00000310074.7	+	1	388	c.199G>A	c.(199-201)Gag>Aag	p.E67K	RP11-367J11.2_ENST00000500031.1_RNA|CCDC96_ENST00000310085.4_5'Flank|TADA2B_ENST00000512388.1_Intron	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	67	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCCCGAGGCCGAGGGCGGCTG	0.736																																																	0													8	10	9					4																	7045505		1868	3996	5864	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.199G>A	4.37:g.7045505G>A	ENSP00000308022:p.Glu67Lys		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E67K	ENST00000310074.7	37	c.199	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244872	0.05906	.	.	ENSG00000173011	ENST00000310074	T	0.55930	0.49	3.13	1.01	0.19927	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.132610	0.49305	U	0.000157	T	0.38532	0.1044	L	0.52905	1.665	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.11348	-1.0591	10	0.12103	T	0.63	-21.9866	7.3179	0.26511	0.0:0.1853:0.6243:0.1904	.	67	Q86TJ2	TAD2B_HUMAN	K	67	ENSP00000308022:E67K	ENSP00000308022:E67K	E	+	1	0	TADA2B	7096406	1.000000	0.71417	0.991000	0.47740	0.402000	0.30811	4.900000	0.63252	0.384000	0.24942	-0.516000	0.04426	GAG	TADA2B	-	superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom		0.736	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	G	NM_152293		7045505	1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7045505	G	A	7045505	3	1	97	1	0	0	0	0	1	0	0	0	15541	1059	37	1	201	1	TADA2B	4	7045505	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5960891	7045505	184108771	155	13879										
CPZ	8532	genome.wustl.edu	37	chr4	8607757	8607757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcggcaacattcatggcaacGaggtggcgggccgggagatg	17	9	1	1	rs202092274		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:8607757G>A	ENST00000360986.4	+	5	925	c.751G>A	c.(751-753)Gag>Aag	p.E251K	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E240K|CPZ_ENST00000382480.2_Missense_Mutation_p.E114K	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	251					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCATGGCAACGAGGTGGCGGG	0.602													-|||	1	0.000199681	0	0	5008	,	,		17782	0		0.001	False		,,,				2504	0																0													124	103	110					4																	8607757		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.751G>A	4.37:g.8607757G>A	ENSP00000354255:p.Glu251Lys		O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.E251K	ENST00000360986.4	37	c.751	CCDS33953.1	4	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	24.1	4.497687	0.85069	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.55234	0.53;0.53;0.53	3.34	3.34	0.38264	Peptidase M14, carboxypeptidase A (2);	0.250059	0.39083	U	0.001480	T	0.80308	0.4599	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.98;0.996	D	0.87513	0.2441	10	0.87932	D	0	-18.4575	14.8331	0.70162	0.0:0.0:1.0:0.0	.	240;251	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	251;114;240	ENSP00000354255:E251K;ENSP00000371920:E114K;ENSP00000315074:E240K	ENSP00000315074:E240K	E	+	1	0	CPZ	8658657	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	8.489000	0.90461	1.713000	0.51359	0.461000	0.40582	GAG	CPZ	-	pfam_Peptidase_M14,prints_Peptidase_M14		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	G	NM_003652		8607757	1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8607757	G	A	8607757	3	1	97	1	0	0	0	0	1	0	0	0	3844	1059	37	1	769	1	CPZ	4	8607757	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1562252	8607757	182546519	156	13880										
CC2D2A	57545	genome.wustl.edu	37	chr4	15482423	15482423	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagcccaagacccgcctcctGagtatgacagtccggagagg	13	13	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:15482423G>A	ENST00000503292.1	+	5	399	c.219G>A	c.(217-219)ctG>ctA	p.L73L	CC2D2A_ENST00000507954.1_Silent_p.L73L|CC2D2A_ENST00000389652.5_Silent_p.L24L|CC2D2A_ENST00000424120.1_Silent_p.L73L|CC2D2A_ENST00000413206.1_Silent_p.L73L|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000511544.1_Missense_Mutation_p.E109K|CC2D2A_ENST00000503658.1_Missense_Mutation_p.E109K|CC2D2A_ENST00000515124.1_Silent_p.L73L|CC2D2A_ENST00000438599.2_Missense_Mutation_p.E109K	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	73					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCCGCCTCCTGAGTATGACAG	0.572																																																	0													32	34	33					4																	15482423		1899	4111	6010	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.219G>A	4.37:g.15482423G>A			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	NULL	p.E109K	ENST00000503292.1	37	c.325	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498154	0.64186	.	.	ENSG00000048342	ENST00000438599;ENST00000511544;ENST00000503658	T;T;T	0.68903	-0.36;-0.36;-0.36	4.96	3.07	0.35406	.	.	.	.	.	T	0.57110	0.2031	.	.	.	0.09310	N	0.999998	P;B	0.40332	0.713;0.347	B;B	0.40477	0.33;0.209	T	0.53265	-0.8463	8	0.87932	D	0	.	5.8432	0.18645	0.237:0.0:0.763:0.0	.	70;109	Q8WVL8;E7EP21	.;.	K	109	ENSP00000401154:E109K;ENSP00000426109:E109K;ENSP00000426846:E109K	ENSP00000401154:E109K	E	+	1	0	CC2D2A	15091521	0.958000	0.32768	0.306000	0.25113	0.023000	0.10783	1.317000	0.33631	1.311000	0.45024	0.573000	0.79308	GAG	CC2D2A	-	NULL		0.572	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15482423	1	no_errors	ENST00000438599	ensembl	human	known	70_37	missense	SNP	0.523	A	A	15482423	G	A	15482423	2	1	97	1	0	0	0	0	0	0	0	1	2733	1291	45	1		1	CC2D2A	4	15482423	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6874666	15482423	175671853	157	13881										
C4orf19	55286	genome.wustl.edu	37	chr4	37592147	37592147	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggcctcagaagggacccaagTcatgagaaatggagactcca	12	10	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:37592147T>A	ENST00000284437.6	+	3	648	c.470T>A	c.(469-471)gTc>gAc	p.V157D	C4orf19_ENST00000381980.4_Missense_Mutation_p.V157D|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	157										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GGGACCCAAGTCATGAGAAAT	0.527																																																	0													75	78	77					4																	37592147		2203	4300	6503	SO:0001583	missense	55286			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.470T>A	4.37:g.37592147T>A	ENSP00000284437:p.Val157Asp		Q9NV03	Missense_Mutation	SNP	NULL	p.V157D	ENST00000284437.6	37	c.470	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678405	0.47886	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.28255	1.62;1.62	5.24	-0.215	0.13157	.	0.691137	0.13242	N	0.402783	T	0.23054	0.0557	L	0.56769	1.78	0.18873	N	0.999988	B	0.27351	0.176	B	0.26202	0.067	T	0.33624	-0.9861	10	0.62326	D	0.03	-7.3888	0.5111	0.00596	0.3378:0.161:0.1268:0.3744	.	157	Q8IY42	CD019_HUMAN	D	157	ENSP00000371408:V157D;ENSP00000284437:V157D	ENSP00000284437:V157D	V	+	2	0	C4orf19	37268542	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.473000	0.22132	-0.077000	0.12752	-0.250000	0.11733	GTC	C4orf19	-	NULL		0.527	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	T	NM_018302		37592147	1	no_errors	ENST00000284437	ensembl	human	known	70_37	missense	SNP	0.001	A	A	37592147	T	A	37592147	3	1	97	1	0	0	0	0	1	0	0	0	2258	1667	58	5	476	5	C4orf19	4	37592147	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	22109724	37592147	153562129	158	13882										
TLR1	7096	genome.wustl.edu	37	chr4	38799315	38799315	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcttttaattgattcatttGtaaaataagtgtctccaact	4	6	3	1	rs200264939		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:38799315G>C	ENST00000502213.2	-	3	1367	c.1138C>G	c.(1138-1140)Caa>Gaa	p.Q380E	TLR1_ENST00000308979.2_Missense_Mutation_p.Q380E			Q15399	TLR1_HUMAN	toll-like receptor 1	380					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGATTCATTTGTAAAATAAGT	0.343																																					GBM(5;216 373 40795 46382)												0													39	41	40					4																	38799315		2199	4300	6499	SO:0001583	missense	7096			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1138C>G	4.37:g.38799315G>C	ENSP00000421259:p.Gln380Glu		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.Q380E	ENST00000502213.2	37	c.1138	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936089	0.18206	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.17691	2.26;2.26	5.06	3.24	0.37175	.	0.446281	0.20633	N	0.088543	T	0.15089	0.0364	L	0.33485	1.01	0.25388	N	0.988559	B	0.24533	0.105	B	0.28784	0.094	T	0.19582	-1.0301	10	0.72032	D	0.01	.	11.8371	0.52330	0.0:0.1333:0.7281:0.1386	.	380	Q15399	TLR1_HUMAN	E	380	ENSP00000354932:Q380E;ENSP00000421259:Q380E	ENSP00000354932:Q380E	Q	-	1	0	TLR1	38475710	0.001000	0.12720	0.648000	0.29521	0.079000	0.17450	0.230000	0.17852	0.756000	0.33013	0.655000	0.94253	CAA	TLR1	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor		0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	G			38799315	-1	no_errors	ENST00000308979	ensembl	human	known	70_37	missense	SNP	0.968	C	C	38799315	G	C	38799315	3	2	97	1	0	0	0	0	1	0	0	0	15979	1386	48	4	1226	4	TLR1	4	38799315	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1207168	38799315	152354961	159	13883										
FAM114A1	92689	genome.wustl.edu	37	chr4	38916592	38916592	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagagactggcacagcagctCacgatggagagaaccgcgca	13	12	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:38916592C>T	ENST00000358869.2	+	8	1019	c.843C>T	c.(841-843)ctC>ctT	p.L281L	FAM114A1_ENST00000515037.1_Silent_p.L74L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	281						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACAGCAGCTCACGATGGAGA	0.468																																																	0													108	94	99					4																	38916592		2203	4300	6503	SO:0001819	synonymous_variant	92689				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.843C>T	4.37:g.38916592C>T			A8K9W6|Q6MZV4|Q9BVL6	Silent	SNP	pfam_DUF719	p.L281	ENST00000358869.2	37	c.843	CCDS3447.1	4																																																																																			FAM114A1	-	pfam_DUF719		0.468	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	C	NM_138389		38916592	1	no_errors	ENST00000358869	ensembl	human	known	70_37	silent	SNP	0.722	T	T	38916592	C	T	38916592	2	4	97	1	0	0	0	0	0	0	0	1	5418	813	29	1		1	FAM114A1	4	38916592	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	117277	38916592	152237684	160	13884										
NSUN7	79730	genome.wustl.edu	37	chr4	40792633	40792633	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccccagatattgaaatacttCatgagaaatttattaacatt	4	7	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:40792633C>A	ENST00000381782.2	+	8	1546	c.1051C>A	c.(1051-1053)Cat>Aat	p.H351N	NSUN7_ENST00000316607.5_Missense_Mutation_p.H351N	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	351							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGAAATACTTCATGAGAAATT	0.289																																																	0													48	52	51					4																	40792633		2202	4295	6497	SO:0001583	missense	79730			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1051C>A	4.37:g.40792633C>A	ENSP00000371201:p.His351Asn		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.H351N	ENST00000381782.2	37	c.1051	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	C	6.756	0.508283	0.12883	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.38722	1.12;1.12	5.95	5.09	0.68999	.	1.135570	0.06175	N	0.678323	T	0.28400	0.0702	N	0.16130	0.375	0.22710	N	0.998823	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.19811	-1.0294	10	0.12103	T	0.63	-0.7612	10.9365	0.47249	0.1464:0.7125:0.1411:0.0	.	351;351	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	N	351	ENSP00000371201:H351N;ENSP00000319127:H351N	ENSP00000319127:H351N	H	+	1	0	NSUN7	40487390	0.358000	0.24947	0.890000	0.34922	0.656000	0.38851	0.889000	0.28282	1.484000	0.48361	0.650000	0.86243	CAT	NSUN7	-	NULL		0.289	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2	C	NM_024677		40792633	1	no_errors	ENST00000381782	ensembl	human	known	70_37	missense	SNP	0.862	A	A	40792633	C	A	40792633	3	1	97	1	0	0	0	0	1	0	0	0	10707	826	29	3	1077	3	NSUN7	4	40792633	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1876041	40792633	150361643	161	13885										
YIPF7	285525	genome.wustl.edu	37	chr4	44652035	44652035	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaagatttccataggcattaGagtcattaccactctgctcc	6	11	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:44652035G>C	ENST00000332990.5	-	2	171	c.155C>G	c.(154-156)tCt>tGt	p.S52C	YIPF7_ENST00000415895.4_Missense_Mutation_p.S28C	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	52						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATAGGCATTAGAGTCATTACC	0.313																																																	0													50	46	47					4																	44652035		1807	4082	5889	SO:0001583	missense	285525			AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.155C>G	4.37:g.44652035G>C	ENSP00000332772:p.Ser52Cys		Q3SY21|Q3SY22	Missense_Mutation	SNP	pfam_Yip1	p.S52C	ENST00000332990.5	37	c.155	CCDS54766.1	4	.	.	.	.	.	.	.	.	.	.	G	6.870	0.529934	0.13127	.	.	ENSG00000177752	ENST00000332990	T	0.42513	0.97	5.45	5.45	0.79879	.	0.403273	0.22429	N	0.060178	T	0.59307	0.2184	M	0.61703	1.905	0.09310	N	1	D;B	0.76494	0.999;0.007	D;B	0.65874	0.939;0.013	T	0.52396	-0.8581	10	0.40728	T	0.16	-8.5266	14.7313	0.69383	0.0:0.0:1.0:0.0	.	52;52	Q8N8F6-4;Q8N8F6	.;YIPF7_HUMAN	C	52	ENSP00000332772:S52C	ENSP00000332772:S52C	S	-	2	0	YIPF7	44346792	0.354000	0.24912	0.012000	0.15200	0.027000	0.11550	5.009000	0.63998	2.853000	0.98044	0.644000	0.83932	TCT	YIPF7	-	NULL		0.313	YIPF7-201	KNOWN	basic|CCDS	protein_coding	YIPF7	HGNC	protein_coding		G	NM_182592		44652035	-1	no_errors	ENST00000332990	ensembl	human	known	70_37	missense	SNP	0.017	C	C	44652035	G	C	44652035	3	2	97	1	0	0	0	0	1	0	0	0	17514	942	33	1	707	1	YIPF7	4	44652035	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3859402	44652035	146502241	162	13886										
FRYL	285527	genome.wustl.edu	37	chr4	48555334	48555334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggatcggtcagctgaagctCactcaccagctcttctagca	9	13	5	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:48555334C>T	ENST00000503238.1	-	33	4332	c.4333G>A	c.(4333-4335)Gag>Aag	p.E1445K	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E1445K|FRYL_ENST00000507711.1_Missense_Mutation_p.E1445K|FRYL_ENST00000537810.1_Missense_Mutation_p.E1445K|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCTGAAGCTCACTCACCAGC	0.428																																																	0													108	113	112					4																	48555334		1889	4125	6014	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4333G>A	4.37:g.48555334C>T	ENSP00000426064:p.Glu1445Lys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1445K	ENST00000503238.1	37	c.4333	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.259361	0.95368	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.52057	1.61;1.61;1.61;0.68	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.979;0.996;1.0;1.0	D;D;D;D	0.91635	0.973;0.951;0.988;0.999	T	0.70967	-0.4728	10	0.52906	T	0.07	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1445;276;1445;1445	F2Z2S2;Q6ZR29;O94915;F5GX82	.;.;FRYL_HUMAN;.	K	1445	ENSP00000426064:E1445K;ENSP00000351113:E1445K;ENSP00000441114:E1445K;ENSP00000421584:E1445K	ENSP00000351113:E1445K	E	-	1	0	FRYL	48250091	1.000000	0.71417	0.875000	0.34327	0.540000	0.34992	7.461000	0.80834	2.882000	0.98803	0.655000	0.94253	GAG	FRYL	-	superfamily_ARM-type_fold		0.428	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	C			48555334	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48555334	C	T	48555334	3	4	97	1	0	0	0	0	1	0	0	0	6082	835	29	1	4824	1	FRYL	4	48555334	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3903299	48555334	142598942	163	13887										
LPHN3	23284	genome.wustl.edu	37	chr4	62936592	62936592	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacccctcccgagggaagttCaaaaggaccggctcatttgg	12	12	2	0	rs371975916		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:62936592C>G	ENST00000514591.1	+	25	4705	c.4376C>G	c.(4375-4377)tCa>tGa	p.S1459*	LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000512091.2_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000511324.1_3'UTR|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.S1561*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.S1493*|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.S1570*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.S1502*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.S1459*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.S1518*|RP11-84A1.3_ENST00000506704.1_RNA			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1437					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGGGAAGTTCAAAAGGACCG	0.458																																																	0													57	57	57					4																	62936592		692	1591	2283	SO:0001587	stop_gained	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.4376C>G	4.37:g.62936592C>G	ENSP00000422533:p.Ser1459*		E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.S1518*	ENST00000514591.1	37	c.4553	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.607530|7.607530	0.98387|0.98387	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|.	.|.	.|.	5.5|5.5	3.75|3.75	0.43078|0.43078	.|.	.|0.647845	.|0.15395	.|N	.|0.264632	T|.	0.58935|.	0.2157|.	.|.	.|.	.|.	0.48901|0.48901	D|D	0.999723|0.999723	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55560|.	-0.8122|.	4|.	.|0.49607	.|T	.|0.09	.|.	5.3324|5.3324	0.15940|0.15940	0.1443:0.6393:0.0:0.2164|0.1443:0.6393:0.0:0.2164	.|.	.|.	.|.	.|.	L|X	907|1459;1459;1437;1518;1502;1570;1561;1493	.|.	.|ENSP00000295349:S1437X	F|S	+|+	3|2	2|0	LPHN3|LPHN3	62619187|62619187	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.979000|0.979000	0.70002|0.70002	1.376000|1.376000	0.34306|0.34306	0.672000|0.672000	0.31204|0.31204	0.591000|0.591000	0.81541|0.81541	TTC|TCA	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	C			62936592	1	no_errors	ENST00000507625	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	62936592	C	G	62936592	4	3	97	1	0	0	0	0	0	1	0	0	8940	838	29	1	4466	1	LPHN3	4	62936592	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	14381258	62936592	128217684	164	13888										
UGT2B11	10720	genome.wustl.edu	37	chr4	70079880	70079880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgtaggaaggagggaaaatCagtcctccactgtgcctttc	11	9	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:70079880C>T	ENST00000446444.1	-	1	569	c.561G>A	c.(559-561)ctG>ctA	p.L187L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	187					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGGGAAAATCAGTCCTCCAC	0.413																																																	0													92	89	90					4																	70079880		2203	4297	6500	SO:0001819	synonymous_variant	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.561G>A	4.37:g.70079880C>T			Q3KNV9	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L187	ENST00000446444.1	37	c.561	CCDS3527.1	4																																																																																			UGT2B11	-	pfam_UDP_glucos_trans		0.413	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70079880	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	silent	SNP	0.544	T	T	70079880	C	T	70079880	2	4	97	1	0	0	0	0	0	0	0	1	16988	813	29	1		1	UGT2B11	4	70079880	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7143288	70079880	121074396	165	13889			2	59		3	3	562	C		6.193776e-05
UGT2B11	10720	genome.wustl.edu	37	chr4	70080030	70080030	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttgactcttgtagttttttCataactttcttatttgaaac	4	7	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:70080030C>T	ENST00000446444.1	-	1	419	c.411G>A	c.(409-411)atG>atA	p.M137I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	137					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTAGTTTTTTCATAACTTTCT	0.348																																																	0													70	74	73					4																	70080030		2203	4297	6500	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.411G>A	4.37:g.70080030C>T	ENSP00000387683:p.Met137Ile		Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M137I	ENST00000446444.1	37	c.411	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	1.120	-0.655624	0.03480	.	.	ENSG00000213759	ENST00000446444	T	0.60040	0.22	1.96	1.96	0.26148	.	0.286793	0.30338	U	0.009850	T	0.45577	0.1349	L	0.41079	1.255	0.09310	N	1	B	0.16396	0.017	B	0.25405	0.06	T	0.37549	-0.9701	10	0.34782	T	0.22	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	137	O75310	UDB11_HUMAN	I	137	ENSP00000387683:M137I	ENSP00000387683:M137I	M	-	3	0	UGT2B11	70114619	0.000000	0.05858	0.094000	0.20943	0.033000	0.12548	-0.369000	0.07533	1.087000	0.41251	0.184000	0.17185	ATG	UGT2B11	-	pfam_UDP_glucos_trans		0.348	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70080030	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	missense	SNP	0.393	T	T	70080030	C	T	70080030	3	4	97	1	0	0	0	0	1	0	0	0	16988	826	29	1	1202	1	UGT2B11	4	70080030	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	150	70080030	121074246	166	13890			2	59		3	3	562	C		6.193776e-05
UGT2B11	10720	genome.wustl.edu	37	chr4	70080441	70080441	+	5'UTR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagtccatttcagagtcatCctggtgcaatgcgatcattc	9	10	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:70080441C>G	ENST00000446444.1	-	0	8				RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11						estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAGAGTCATCCTGGTGCAAT	0.393																																																	0													168	168	168					4																	70080441		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.-1G>C	4.37:g.70080441C>G			Q3KNV9	RNA	SNP	-	NULL	ENST00000446444.1	37	NULL	CCDS3527.1	4																																																																																			RP11-704M14.1	-	-		0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250696	Clone_based_vega_gene	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70080441	1	no_errors	ENST00000505646	ensembl	human	known	70_37	rna	SNP	0.894	G	G	70080441	C	G	70080441	1	3	97	0	1	0	0	0	0	0	0	0	16988	870	30	1		1	UGT2B11	4	70080441	5'UTR	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	411	70080441	121073835	167	13891			2	59		3	3	562	C		6.193776e-05
SHROOM3	57619	genome.wustl.edu	37	chr4	77661028	77661028	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagtgcctgaaaatgaggagGatgcctccctgaagagacat	12	9	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:77661028G>C	ENST00000296043.6	+	5	2655	c.1702G>C	c.(1702-1704)Gat>Cat	p.D568H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	568					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAATGAGGAGGATGCCTCCCT	0.498																																																	0													181	176	178					4																	77661028		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1702G>C	4.37:g.77661028G>C	ENSP00000296043:p.Asp568His		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D568H	ENST00000296043.6	37	c.1702	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118808	0.20877	.	.	ENSG00000138771	ENST00000296043	T	0.22539	1.95	5.07	4.2	0.49525	.	0.770796	0.11974	N	0.511460	T	0.29945	0.0749	L	0.57536	1.79	0.09310	N	1	P;D;D	0.57571	0.93;0.98;0.98	P;P;P	0.50231	0.459;0.635;0.635	T	0.10660	-1.0620	10	0.59425	D	0.04	-10.7885	9.4848	0.38922	0.1866:0.0:0.8134:0.0	.	392;568;346	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	H	568	ENSP00000296043:D568H	ENSP00000296043:D568H	D	+	1	0	SHROOM3	77880052	0.087000	0.21565	0.926000	0.36857	0.185000	0.23345	1.032000	0.30178	2.622000	0.88805	0.563000	0.77884	GAT	SHROOM3	-	NULL		0.498	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	G	NM_020859		77661028	1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	0.000	C	C	77661028	G	C	77661028	3	2	97	1	0	0	0	0	1	0	0	0	14325	1174	41	1	1720	1	SHROOM3	4	77661028	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7580587	77661028	113493248	168	13892										
ANXA3	306	genome.wustl.edu	37	chr4	79500189	79500189	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgtttcatttaggaactgatGagaaaatgctcatcagcatt	8	6	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:79500189G>A	ENST00000264908.6	+	4	491	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ANXA3_ENST00000503570.2_5'UTR|ANXA3_ENST00000512884.1_5'UTR	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	38					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGAACTGATGAGAAAATGCT	0.368																																					GBM(2;126 157 27790 28920 42492)												0													76	72	73					4																	79500189		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.112G>A	4.37:g.79500189G>A	ENSP00000264908:p.Glu38Lys		B2R9W6|Q6LET2	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.E38K	ENST00000264908.6	37	c.112	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392432	0.62066	.	.	ENSG00000138772	ENST00000264908;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	4.99	4.99	0.66335	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00455	-1.1729	10	0.41790	T	0.15	.	17.2056	0.86917	0.0:0.0:1.0:0.0	.	38	P12429	ANXA3_HUMAN	K	38	ENSP00000264908:E38K;ENSP00000424584:E38K;ENSP00000421512:E38K;ENSP00000422281:E38K	ENSP00000264908:E38K	E	+	1	0	ANXA3	79719213	1.000000	0.71417	0.921000	0.36526	0.363000	0.29612	4.707000	0.61852	2.583000	0.87209	0.591000	0.81541	GAG	ANXA3	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin		0.368	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	HGNC	protein_coding	OTTHUMT00000252516.3	G	NM_005139		79500189	1	no_errors	ENST00000264908	ensembl	human	known	70_37	missense	SNP	0.998	A	A	79500189	G	A	79500189	3	1	97	1	0	0	0	0	1	0	0	0	719	1291	45	1	122	1	ANXA3	4	79500189	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1839161	79500189	111654087	169	13893										
SEC31A	22872	genome.wustl.edu	37	chr4	83802025	83802025	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaggtctaattcaaatatctCaagggaagcattcgtactaa	8	7	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:83802025C>T	ENST00000395310.2	-	3	312	c.130G>A	c.(130-132)Gag>Aag	p.E44K	SEC31A_ENST00000500777.2_Missense_Mutation_p.E44K|SEC31A_ENST00000448323.1_Missense_Mutation_p.E44K|SEC31A_ENST00000432794.1_Missense_Mutation_p.E44K|SEC31A_ENST00000505984.1_Missense_Mutation_p.E44K|SEC31A_ENST00000508502.1_Missense_Mutation_p.E44K|SEC31A_ENST00000311785.7_Missense_Mutation_p.E44K|SEC31A_ENST00000513858.1_Missense_Mutation_p.E44K|SEC31A_ENST00000326950.5_Missense_Mutation_p.E44K|SEC31A_ENST00000508479.1_Missense_Mutation_p.E44K|SEC31A_ENST00000509142.1_Missense_Mutation_p.E44K|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000348405.4_Missense_Mutation_p.E44K|SEC31A_ENST00000505472.1_Missense_Mutation_p.E44K|SEC31A_ENST00000443462.2_Missense_Mutation_p.E39K|SEC31A_ENST00000355196.2_Missense_Mutation_p.E44K	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	44					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCAAATATCTCAAGGGAAGCA	0.353																																																	0													127	130	129					4																	83802025		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.130G>A	4.37:g.83802025C>T	ENSP00000378721:p.Glu44Lys		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E44K	ENST00000395310.2	37	c.130	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.255336	0.95336	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000514326;ENST00000513323;ENST00000503210;ENST00000505434	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.94;0.85;1.83;1.77;0.73;1.66;1.83;0.94;0.73;0.53;0.85;1.86;1.83;1.95;1.87;1.27;1.29	4.41	4.41	0.53225	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.994;0.982;0.999;0.999;0.995	D;D;D;D;D;P;D;D;D	0.91635	0.999;0.998;0.991;0.997;0.966;0.877;0.976;0.996;0.925	D	0.84124	0.0408	10	0.52906	T	0.07	-17.7166	17.2009	0.86906	0.0:1.0:0.0:0.0	.	39;44;44;44;44;44;44;44;44	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	K	44;44;44;39;44;44;44;44;44;44;44;44;44;44;44;44;44;44;44	ENSP00000337602:E44K;ENSP00000426886:E44K;ENSP00000378721:E44K;ENSP00000408027:E39K;ENSP00000426569:E44K;ENSP00000407944:E44K;ENSP00000400926:E44K;ENSP00000325087:E44K;ENSP00000309070:E44K;ENSP00000421633:E44K;ENSP00000421464:E44K;ENSP00000424635:E44K;ENSP00000347329:E44K;ENSP00000424451:E44K;ENSP00000425999:E44K;ENSP00000425555:E44K;ENSP00000426950:E44K	ENSP00000309070:E44K	E	-	1	0	SEC31A	84021049	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.576000	0.82467	2.298000	0.77334	0.460000	0.39030	GAG	SEC31A	-	superfamily_WD40_repeat_dom		0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	C	NM_016211		83802025	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83802025	C	T	83802025	3	4	97	1	0	0	0	0	1	0	0	0	14028	835	29	1	3632	1	SEC31A	4	83802025	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4301836	83802025	107352251	170	13894										
HERC5	51191	genome.wustl.edu	37	chr4	89421099	89421099	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atttgcaaacacttctggatGatgaaggtgataactttgag	10	5	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:89421099G>A	ENST00000264350.3	+	19	2620	c.2467G>A	c.(2467-2469)Gat>Aat	p.D823N	HERC5_ENST00000508159.1_Missense_Mutation_p.D461N	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	823	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ACTTCTGGATGATGAAGGTGA	0.294																																					Esophageal Squamous(39;887 1012 34045 50514)												0													96	104	101					4																	89421099		2202	4299	6501	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2467G>A	4.37:g.89421099G>A	ENSP00000264350:p.Asp823Asn		B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D823N	ENST00000264350.3	37	c.2467	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.581693	0.00879	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.39229	1.09;1.09	4.49	1.46	0.22682	HECT (4);	0.554156	0.15976	N	0.235548	T	0.20088	0.0483	N	0.25031	0.7	0.22719	N	0.998812	B	0.18461	0.028	B	0.26614	0.071	T	0.29971	-0.9994	10	0.02654	T	1	.	2.1047	0.03688	0.1198:0.1946:0.4854:0.2002	.	823	Q9UII4	HERC5_HUMAN	N	823;461	ENSP00000264350:D823N;ENSP00000424129:D461N	ENSP00000264350:D823N	D	+	1	0	HERC5	89640122	0.998000	0.40836	0.993000	0.49108	0.018000	0.09664	0.120000	0.15647	0.143000	0.18926	-0.291000	0.09656	GAT	HERC5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.294	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	G	NM_016323		89421099	1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.998	A	A	89421099	G	A	89421099	3	1	97	1	0	0	0	0	1	0	0	0	7081	1290	45	1	2541	1	HERC5	4	89421099	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5619074	89421099	101733177	171	13895										
CASP6	839	genome.wustl.edu	37	chr4	110615848	110615848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcggcatctgcgtggctaaCagttgacactataaaggacc	10	10	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:110615848C>T	ENST00000265164.2	-	5	393	c.316G>A	c.(316-318)Gtt>Att	p.V106I	CASP6_ENST00000352981.3_Missense_Mutation_p.V17I|CASP6_ENST00000510324.1_5'UTR|AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000505486.1_Missense_Mutation_p.C80Y	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	106					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GCGTGGCTAACAGTTGACACT	0.348																																																	0													62	60	61					4																	110615848		2203	4300	6503	SO:0001583	missense	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.316G>A	4.37:g.110615848C>T	ENSP00000265164:p.Val106Ile		Q9BQE7	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.V106I	ENST00000265164.2	37	c.316	CCDS3684.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.562270|2.562270	0.45694|0.45694	.|.	.|.	ENSG00000138794|ENSG00000138794	ENST00000505486|ENST00000352981;ENST00000265164;ENST00000503684	T|T;T;T	0.55930|0.60920	0.49|0.15;0.15;0.15	5.7|5.7	-4.07|-4.07	0.03975|0.03975	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.587265	.|0.17852	.|N	.|0.159816	T|T	0.33294|0.33294	0.0858|0.0858	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.0	.|B;B	.|0.20577	.|0.03;0.002	T|T	0.14392|0.14392	-1.0474|-1.0474	7|10	0.87932|0.54805	D|T	0|0.06	.|.	12.8599|12.8599	0.57908|0.57908	0.1825:0.6417:0.0:0.1758|0.1825:0.6417:0.0:0.1758	.|.	.|17;106	.|P55212-2;P55212	.|.;CASP6_HUMAN	Y|I	80|17;106;88	ENSP00000424080:C80Y|ENSP00000285333:V17I;ENSP00000265164:V106I;ENSP00000427669:V88I	ENSP00000424080:C80Y|ENSP00000265164:V106I	C|V	-|-	2|1	0|0	CASP6|CASP6	110835297|110835297	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.174000|0.174000	0.22865|0.22865	-0.080000|-0.080000	0.11339|0.11339	-0.940000|-0.940000	0.03705|0.03705	-0.265000|-0.265000	0.10407|0.10407	TGT|GTT	CASP6	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.348	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	C	NM_001226		110615848	-1	no_errors	ENST00000265164	ensembl	human	known	70_37	missense	SNP	0.000	T	T	110615848	C	T	110615848	3	4	97	1	0	0	0	0	1	0	0	0	2680	478	17	4	577	4	CASP6	4	110615848	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	21194749	110615848	80538428	172	13896										
SPRY1	10252	genome.wustl.edu	37	chr4	124323449	124323449	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcttctaccactgctccaatGacgacgaaggggattcctat	8	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:124323449G>A	ENST00000394339.2	+	2	1043	c.703G>A	c.(703-705)Gac>Aac	p.D235N	SPRY1_ENST00000339241.1_Missense_Mutation_p.D235N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	235	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTGCTCCAATGACGACGAAGG	0.478																																																	0													269	228	242					4																	124323449		2203	4300	6503	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.703G>A	4.37:g.124323449G>A	ENSP00000377871:p.Asp235Asn		D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.D235N	ENST00000394339.2	37	c.703	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653020	0.88056	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.71103	-0.54;-0.54	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.85710	2.77	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	D	0.86683	0.1918	9	.	.	.	-22.3844	18.2393	0.89961	0.0:0.0:1.0:0.0	.	235	O43609	SPY1_HUMAN	N	235	ENSP00000343785:D235N;ENSP00000377871:D235N	.	D	+	1	0	SPRY1	124542899	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	6.992000	0.76238	2.622000	0.88805	0.561000	0.74099	GAC	SPRY1	-	pfam_Sprouty		0.478	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	G			124323449	1	no_errors	ENST00000339241	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124323449	G	A	124323449	3	1	97	1	0	0	0	0	1	0	0	0	15135	1290	45	1	705	1	SPRY1	4	124323449	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	13707601	124323449	66830827	173	13897										
INTU	27152	genome.wustl.edu	37	chr4	128627997	128627997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccttcctgtagtagtggagGatctgacaatggttgtgaag	13	6	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:128627997G>A	ENST00000335251.6	+	12	2247	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	715					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTAGTGGAGGATCTGACAAT	0.473																																																	0													211	213	212					4																	128627997		2203	4300	6503	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2144G>A	4.37:g.128627997G>A	ENSP00000334003:p.Gly715Glu		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G715E	ENST00000335251.6	37	c.2144	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	g	7.527	0.657967	0.14645	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.6	2.86	0.33363	.	0.314649	0.33272	N	0.005086	T	0.47746	0.1462	L	0.60455	1.87	0.80722	D	1	P	0.34462	0.454	B	0.31337	0.128	T	0.32640	-0.9899	9	0.17832	T	0.49	-2.1192	10.7266	0.46072	0.0:0.1271:0.6094:0.2636	.	715	Q9ULD6	PDZD6_HUMAN	E	715	.	ENSP00000334003:G715E	G	+	2	0	INTU	128847447	0.980000	0.34600	0.966000	0.40874	0.031000	0.12232	0.939000	0.28978	0.663000	0.31027	-0.847000	0.03039	GGA	INTU	-	NULL		0.473	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	G	XM_371707		128627997	1	no_errors	ENST00000335251	ensembl	human	known	70_37	missense	SNP	0.927	A	A	128627997	G	A	128627997	3	1	97	1	0	0	0	0	1	0	0	0	7806	1174	41	1	2190	1	INTU	4	128627997	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4304548	128627997	62526279	174	13898										
RXFP1	59350	genome.wustl.edu	37	chr4	159573124	159573124	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cactgcaggagatgccacctGagttaatgaagccggacctt	11	11	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:159573124G>A	ENST00000307765.5	+	18	2442	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	RXFP1_ENST00000470033.1_Missense_Mutation_p.E698K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E626K|RXFP1_ENST00000460056.2_Missense_Mutation_p.E650K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E683K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	731					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATGCCACCTGAGTTAATGAA	0.418																																																	0													118	112	114					4																	159573124		1891	4125	6016	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2191G>A	4.37:g.159573124G>A	ENSP00000303248:p.Glu731Lys		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.E731K	ENST00000307765.5	37	c.2191	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	9.873	1.199593	0.22121	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.70282	-0.3;-0.42;-0.27;-0.47;-0.41	5.75	2.13	0.27403	.	0.536026	0.20603	N	0.089101	T	0.50103	0.1596	L	0.31294	0.92	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.002;0.001;0.002;0.001	T	0.26503	-1.0101	10	0.11182	T	0.66	.	5.8531	0.18704	0.3354:0.13:0.5345:0.0	.	742;758;626;683;698;650;601;731	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	K	650;731;626;683;698;601	ENSP00000423306:E650K;ENSP00000303248:E731K;ENSP00000414885:E626K;ENSP00000345889:E683K;ENSP00000420712:E698K	ENSP00000303248:E731K	E	+	1	0	RXFP1	159792574	0.002000	0.14202	0.013000	0.15412	0.580000	0.36256	0.908000	0.28545	0.081000	0.16988	-0.176000	0.13171	GAG	RXFP1	-	NULL		0.418	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	G	NM_021634		159573124	1	no_errors	ENST00000307765	ensembl	human	known	70_37	missense	SNP	0.011	A	A	159573124	G	A	159573124	3	1	97	1	0	0	0	0	1	0	0	0	13789	1291	45	1	2261	1	RXFP1	4	159573124	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	30945127	159573124	31581152	175	13899										
NPY5R	4889	genome.wustl.edu	37	chr4	164272516	164272516	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagaataaaaaagagatctcGaagtgttttctacagactga	8	5	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:164272516G>C	ENST00000515560.1	+	4	2613	c.1091G>C	c.(1090-1092)cGa>cCa	p.R364P	NPY5R_ENST00000506953.1_Missense_Mutation_p.R364P|NPY5R_ENST00000338566.3_Missense_Mutation_p.R364P			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	364					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAGAGATCTCGAAGTGTTTTC	0.363																																					Melanoma(139;1287 1774 9781 19750 25599)												0													115	110	112					4																	164272516		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1091G>C	4.37:g.164272516G>C	ENSP00000423917:p.Arg364Pro		Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R364P	ENST00000515560.1	37	c.1091	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424989	0.62733	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.73897	-0.79;-0.79;-0.79	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.244560	0.25686	N	0.028966	D	0.87621	0.6223	M	0.84511	2.7	0.45025	D	0.998046	D	0.89917	1.0	D	0.79108	0.992	D	0.89816	0.3985	10	0.72032	D	0.01	.	18.061	0.89377	0.0:0.0:1.0:0.0	.	364	Q15761	NPY5R_HUMAN	P	364	ENSP00000339377:R364P;ENSP00000423917:R364P;ENSP00000423474:R364P	ENSP00000339377:R364P	R	+	2	0	NPY5R	164491966	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.984000	0.70548	2.433000	0.82419	0.467000	0.42956	CGA	NPY5R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt		0.363	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	G	NM_006174		164272516	1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.974	C	C	164272516	G	C	164272516	3	2	97	1	0	0	0	0	1	0	0	0	10634	1058	37	1	1093	1	NPY5R	4	164272516	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4699392	164272516	26881760	176	13900										
CLDN22	53842	genome.wustl.edu	37	chr4	184240795	184240795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtagtggcccgaagctagggGagcgtggctggagcaggctg	20	8	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:184240795G>A	ENST00000323319.5	-	1	1132	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	193					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAAGCTAGGGGAGCGTGGCTG	0.547																																																	0													201	178	185					4																	184240795		1568	3582	5150	SO:0001583	missense	53842			AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"Claudins"	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.577C>T	4.37:g.184240795G>A	ENSP00000318113:p.Pro193Ser			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.P193S	ENST00000323319.5	37	c.577	CCDS43286.1	4	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270659	0.23221	.	.	ENSG00000177300	ENST00000323319	D	0.85088	-1.94	6.0	2.84	0.33178	.	0.624679	0.17679	N	0.165718	T	0.78052	0.4223	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.60120	-0.7325	10	0.18276	T	0.48	.	5.3549	0.16055	0.0708:0.2276:0.4899:0.2117	.	193	Q8N7P3	CLD22_HUMAN	S	193	ENSP00000318113:P193S	ENSP00000318113:P193S	P	-	1	0	CLDN22	184477789	0.000000	0.05858	0.209000	0.23619	0.100000	0.18952	0.499000	0.22546	0.812000	0.34326	0.655000	0.94253	CCC	CLDN22	-	NULL		0.547	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN22	HGNC	protein_coding	OTTHUMT00000361493.1	G			184240795	-1	no_errors	ENST00000323319	ensembl	human	known	70_37	missense	SNP	0.000	A	A	184240795	G	A	184240795	3	1	97	1	0	0	0	0	1	0	0	0	3488	1174	41	1	89	1	CLDN22	4	184240795	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	19968279	184240795	6913481	177	13901										
TLR3	7098	genome.wustl.edu	37	chr4	187004428	187004428	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgacatgttggagggtcttGagaaactagaaattctcgat	11	5	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:187004428G>A	ENST00000296795.3	+	4	1692	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	TLR3_ENST00000504367.1_Missense_Mutation_p.E253K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	530					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GGAGGGTCTTGAGAAACTAGA	0.438																																																	0													114	112	113					4																	187004428		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1588G>A	4.37:g.187004428G>A	ENSP00000296795:p.Glu530Lys		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E530K	ENST00000296795.3	37	c.1588	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	8.807	0.934306	0.18206	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.56941	0.43;0.43	5.67	4.83	0.62350	.	0.894071	0.10090	N	0.717321	T	0.35307	0.0927	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.17433	0.018	T	0.16689	-1.0394	10	0.10902	T	0.67	.	11.9153	0.52761	0.0:0.3162:0.566:0.1178	.	530	O15455	TLR3_HUMAN	K	530;530;253	ENSP00000296795:E530K;ENSP00000423684:E253K	ENSP00000296795:E530K	E	+	1	0	TLR3	187241422	0.001000	0.12720	0.538000	0.28064	0.894000	0.52154	0.367000	0.20382	1.395000	0.46643	0.557000	0.71058	GAG	TLR3	-	smart_Leu-rich_rpt_typical-subtyp		0.438	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	G			187004428	1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.000	A	A	187004428	G	A	187004428	3	1	97	1	0	0	0	0	1	0	0	0	15982	1291	45	1	1598	1	TLR3	4	187004428	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2763633	187004428	4149848	178	13902										
KLKB1	3818	genome.wustl.edu	37	chr4	187157959	187157959	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccatcgagacatttataaagGagttgatatgagaggagtca	11	5	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:187157959G>C	ENST00000264690.6	+	5	540	c.353G>C	c.(352-354)gGa>gCa	p.G118A	KLKB1_ENST00000513864.1_Missense_Mutation_p.G118A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	118	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATTTATAAAGGAGTTGATATG	0.368																																																	0													132	132	132					4																	187157959		2203	4300	6503	SO:0001583	missense	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.353G>C	4.37:g.187157959G>C	ENSP00000264690:p.Gly118Ala		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A	p.G118A	ENST00000264690.6	37	c.353	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816420|2.816420	0.50527|0.50527	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715	.|D;D;D;D;D	.|0.91521	.|-2.68;-2.68;-2.68;-2.86;-2.68	4.91|4.91	3.17|3.17	0.36434|0.36434	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.94614|0.94614	0.8264|0.8264	M|M	0.85373|0.85373	2.75|2.75	0.34652|0.34652	D|D	0.72178|0.72178	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.995	D|D	0.95374|0.95374	0.8467|0.8467	5|10	.|0.72032	.|D	.|0.01	.|.	8.4917|8.4917	0.33104|0.33104	0.0821:0.154:0.7639:0.0|0.0821:0.154:0.7639:0.0	.|.	.|80;118	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	Q|A	166|118;118;80;80;118;80	.|ENSP00000412366:G118A;ENSP00000264690:G118A;ENSP00000415563:G80A;ENSP00000392231:G80A;ENSP00000424469:G118A	.|ENSP00000264690:G118A	E|G	+|+	1|2	0|0	KLKB1|KLKB1	187394953|187394953	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.493000|0.493000	0.33554|0.33554	3.053000|3.053000	0.49901|0.49901	0.651000|0.651000	0.30788|0.30788	0.650000|0.650000	0.86243|0.86243	GAG|GGA	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	G	NM_000892		187157959	1	no_errors	ENST00000264690	ensembl	human	known	70_37	missense	SNP	0.933	C	C	187157959	G	C	187157959	3	2	97	1	0	0	0	0	1	0	0	0	8432	1174	41	1	367	1	KLKB1	4	187157959	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	153531	187157959	3996317	179	13903										
FAT1	2195	genome.wustl.edu	37	chr4	187629805	187629805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctcaaatgggaataagcagGaatggcctttaccatgacca	9	10	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:187629805G>A	ENST00000441802.2	-	2	1386	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	393	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATAAGCAGGAATGGCCTTT	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													104	98	100					4																	187629805		1867	4106	5973	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1177C>T	4.37:g.187629805G>A	ENSP00000406229:p.Pro393Ser			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P393S	ENST00000441802.2	37	c.1177	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878570	0.51801	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	D;T	0.82081	-1.57;0.22	5.32	5.32	0.75619	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	L	0.53729	1.69	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	D	0.88069	0.2799	10	0.46703	T	0.11	.	19.1866	0.93647	0.0:0.0:1.0:0.0	.	393	Q14517	FAT1_HUMAN	S	393	ENSP00000406229:P393S;ENSP00000423736:P393S	ENSP00000260147:P393S	P	-	1	0	FAT1	187866799	1.000000	0.71417	0.170000	0.22879	0.899000	0.52679	9.657000	0.98554	2.769000	0.95229	0.491000	0.48974	CCT	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187629805	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	1.000	A	A	187629805	G	A	187629805	3	1	97	1	0	0	0	0	1	0	0	0	5707	1174	41	1	12693	1	FAT1	4	187629805	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	471846	187629805	3524471	180	13904										
ADCY2	108	genome.wustl.edu	37	chr5	7802445	7802445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agggcttggaatgccttcggCtcctgaacgagatcatcgct	12	11	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:7802445C>A	ENST00000338316.4	+	21	2832	c.2743C>A	c.(2743-2745)Ctc>Atc	p.L915I	ADCY2_ENST00000537121.1_Missense_Mutation_p.L735I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	915					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATGCCTTCGGCTCCTGAACGA	0.488																																																	0													92	92	92					5																	7802445		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2743C>A	5.37:g.7802445C>A	ENSP00000342952:p.Leu915Ile		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L915I	ENST00000338316.4	37	c.2743	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	C	33	5.201595	0.94997	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.83591	-1.74;-1.74	5.15	5.15	0.70609	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.149463	0.46145	D	0.000312	D	0.89876	0.6842	L	0.60957	1.885	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.90748	0.4655	10	0.72032	D	0.01	.	18.6214	0.91322	0.0:1.0:0.0:0.0	.	735;915	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	915;68;748;735	ENSP00000342952:L915I;ENSP00000444803:L735I	ENSP00000342952:L915I	L	+	1	0	ADCY2	7855445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.539000	0.82063	2.390000	0.81377	0.591000	0.81541	CTC	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7802445	1	no_errors	ENST00000338316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7802445	C	A	7802445	3	1	97	1	0	0	0	0	1	0	0	0	294	797	28	4	2825	4	ADCY2	5	7802445	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		7802445	173112815	181	13905										
NIPBL	25836	genome.wustl.edu	37	chr5	36971070	36971070	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctggcaattcagctaatcatCatgctgataatcctagacat	6	10	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:36971070C>G	ENST00000282516.8	+	7	1202	c.703C>G	c.(703-705)Cat>Gat	p.H235D	NIPBL_ENST00000448238.2_Missense_Mutation_p.H235D|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	235					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCTAATCATCATGCTGATAA	0.383																																																	0													117	105	109					5																	36971070		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.703C>G	5.37:g.36971070C>G	ENSP00000282516:p.His235Asp		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H235D	ENST00000282516.8	37	c.703	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418194	0.62622	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93811	-3.28;-3.29	5.58	5.58	0.84498	.	0.071652	0.64402	D	0.000020	D	0.87888	0.6291	N	0.19112	0.55	0.39850	D	0.973236	P;P	0.38677	0.51;0.642	B;B	0.35278	0.058;0.199	D	0.86649	0.1897	10	0.23302	T	0.38	.	19.517	0.95169	0.0:1.0:0.0:0.0	.	235;235	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	235	ENSP00000282516:H235D;ENSP00000406266:H235D	ENSP00000282516:H235D	H	+	1	0	NIPBL	37006827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.380000	0.59581	2.780000	0.95670	0.655000	0.94253	CAT	NIPBL	-	NULL		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		36971070	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36971070	C	G	36971070	3	3	97	1	0	0	0	0	1	0	0	0	10452	826	29	1	725	1	NIPBL	5	36971070	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	29168625	36971070	143944190	182	13906										
ANKRD55	79722	genome.wustl.edu	37	chr5	55466561	55466561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggcagcatgcagtggcaggcGgccatttttatctgggatat	14	8	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:55466561G>A	ENST00000341048.4	-	5	533	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R128C|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R99C	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	128										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGTGGCAGGCGGCCATTTTTA	0.483																																																	0													104	103	103					5																	55466561		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.382C>T	5.37:g.55466561G>A	ENSP00000342295:p.Arg128Cys		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R128C	ENST00000341048.4	37	c.382	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191954	0.78902	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.54479	2.35;0.57;0.57	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59016	-0.7533	10	0.36615	T	0.2	.	13.4901	0.61390	0.0:0.0:0.8022:0.1978	.	128	B3KVT8	.	C	128;128;128;99;128	ENSP00000342295:R128C;ENSP00000424230:R128C;ENSP00000423507:R99C	ENSP00000342295:R128C	R	-	1	0	ANKRD55	55502318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.475000	0.60210	2.461000	0.83175	0.561000	0.74099	CGC	ANKRD55	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	G	NM_024669		55466561	-1	no_errors	ENST00000341048	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55466561	G	A	55466561	3	1	97	1	0	0	0	0	1	0	0	0	681	1116	39	2	1494	2	ANKRD55	5	55466561	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	18495491	55466561	125448699	183	13907										
IQGAP2	10788	genome.wustl.edu	37	chr5	75960943	75960943	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaccaaggaataaaaagtttGagtaaggagaggagaaaaac	11	3	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:75960943G>C	ENST00000274364.6	+	22	2919	c.2622G>C	c.(2620-2622)ttG>ttC	p.L874F	IQGAP2_ENST00000379730.3_Missense_Mutation_p.L376F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L370F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.L370F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	874					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAAAAAGTTTGAGTAAGGAGA	0.343																																																	0													123	119	121					5																	75960943		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2622G>C	5.37:g.75960943G>C	ENSP00000274364:p.Leu874Phe		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L874F	ENST00000274364.6	37	c.2622	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270569	0.59540	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	T;T;T;T;T;T	0.09350	3.67;3.6;3.65;2.99;3.6;3.6	5.41	1.6	0.23607	.	0.000000	0.64402	D	0.000001	T	0.28034	0.0691	M	0.78801	2.425	0.54753	D	0.999983	D;D;D;D	0.89917	0.999;1.0;0.999;0.978	D;D;D;D	0.87578	0.975;0.998;0.975;0.912	T	0.00717	-1.1596	10	0.87932	D	0	-12.7685	6.7912	0.23701	0.2048:0.0:0.6712:0.124	.	376;824;370;874	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	F	874;376;824;427;370;370	ENSP00000274364:L874F;ENSP00000442313:L376F;ENSP00000421097:L824F;ENSP00000422661:L427F;ENSP00000379535:L370F;ENSP00000426027:L370F	ENSP00000274364:L874F	L	+	3	2	IQGAP2	75996699	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.911000	0.28584	-0.001000	0.14495	-0.216000	0.12614	TTG	IQGAP2	-	NULL		0.343	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75960943	1	no_errors	ENST00000274364	ensembl	human	known	70_37	missense	SNP	0.997	C	C	75960943	G	C	75960943	3	2	97	1	0	0	0	0	1	0	0	0	7835	1281	45	1	2708	1	IQGAP2	5	75960943	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	20494382	75960943	104954317	184	13908										
DMGDH	29958	genome.wustl.edu	37	chr5	78351647	78351647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctttacctgaccagtttcttCttccagtttctcataaagtt	4	11	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:78351647C>T	ENST00000255189.3	-	3	389	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	121					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTCTTCTTCCAGTTTC	0.358																																																	0													94	97	96					5																	78351647		2202	4298	6500	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.361G>A	5.37:g.78351647C>T	ENSP00000255189:p.Glu121Lys		B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.E121K	ENST00000255189.3	37	c.361	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608825	0.66558	.	.	ENSG00000132837	ENST00000255189	D	0.82255	-1.59	6.16	6.16	0.99307	FAD dependent oxidoreductase (1);	0.047823	0.85682	D	0.000000	T	0.77831	0.4189	N	0.25992	0.78	0.80722	D	1	B	0.19445	0.036	B	0.24006	0.05	T	0.69105	-0.5233	10	0.33940	T	0.23	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	121	Q9UI17	M2GD_HUMAN	K	121	ENSP00000255189:E121K	ENSP00000255189:E121K	E	-	1	0	DMGDH	78387403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	2.937000	0.99478	0.650000	0.86243	GAA	DMGDH	-	pfam_FAD-dep_OxRdtase		0.358	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3	C	NM_013391		78351647	-1	no_errors	ENST00000255189	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78351647	C	T	78351647	3	4	97	1	0	0	0	0	1	0	0	0	4591	922	32	1	2295	1	DMGDH	5	78351647	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2390704	78351647	102563613	185	13909										
GPR98	84059	genome.wustl.edu	37	chr5	90106537	90106537	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acacaactctcattcctgtaGaaactgaatccaccacatac	3	14	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:90106537G>C	ENST00000405460.2	+	74	15556	c.15460G>C	c.(15460-15462)Gaa>Caa	p.E5154Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E815Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5154					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTCCTGTAGAAACTGAATC	0.463																																																	0													191	189	189					5																	90106537		2035	4197	6232	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15460G>C	5.37:g.90106537G>C	ENSP00000384582:p.Glu5154Gln		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E5154Q	ENST00000405460.2	37	c.15460	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491443	0.26774	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.30182	1.59;1.54	5.37	1.49	0.22878	.	1.023770	0.07771	N	0.951724	T	0.23572	0.0570	L	0.44542	1.39	0.09310	N	1	B;B;B	0.13145	0.004;0.002;0.007	B;B;B	0.16289	0.006;0.004;0.015	T	0.30149	-0.9988	9	.	.	.	.	4.4743	0.11727	0.2695:0.1643:0.5663:0.0	.	815;5154;815	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	5154;5154;815	ENSP00000384582:E5154Q;ENSP00000392618:E815Q	.	E	+	1	0	GPR98	90142293	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	0.315000	0.19451	0.324000	0.23333	0.563000	0.77884	GAA	GPR98	-	NULL		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90106537	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.000	C	C	90106537	G	C	90106537	3	2	97	1	0	0	0	0	1	0	0	0	6741	943	33	1	15754	1	GPR98	5	90106537	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	11754890	90106537	90808723	186	13910										
ARRDC3	57561	genome.wustl.edu	37	chr5	90669612	90669612	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcactggtgcaagattgttCcgcctttgttcctctgttac	8	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:90669612C>G	ENST00000265138.3	-	7	1343	c.1077G>C	c.(1075-1077)cgG>cgC	p.R359R	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	359					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CAAGATTGTTCCGCCTTTGTT	0.458																																																	0													199	168	179					5																	90669612		2203	4300	6503	SO:0001819	synonymous_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1077G>C	5.37:g.90669612C>G			A8K6T8|Q9P2H1	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R359	ENST00000265138.3	37	c.1077	CCDS34202.1	5																																																																																			ARRDC3	-	NULL		0.458	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC3	HGNC	protein_coding	OTTHUMT00000369763.2	C	NM_020801		90669612	-1	no_errors	ENST00000265138	ensembl	human	known	70_37	silent	SNP	1.000	G	G	90669612	C	G	90669612	2	3	97	1	0	0	0	0	0	0	0	1	985	842	30	1		1	ARRDC3	5	90669612	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	563075	90669612	90245648	187	13911										
POU5F2	134187	genome.wustl.edu	37	chr5	93076346	93076346	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgggctacccctgcagagtaGagacgtgtatagtgggggat	16	7	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:93076346G>C	ENST00000510627.4	-	1	997	c.924C>G	c.(922-924)ctC>ctG	p.L308L	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	308					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCAGAGTAGAGACGTGTAT	0.627																																																	0													39	42	41					5																	93076346		1895	4103	5998	SO:0001819	synonymous_variant	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.924C>G	5.37:g.93076346G>C			Q15169|Q6MZL7|Q8N748	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.L308	ENST00000510627.4	37	c.924	CCDS59489.1	5																																																																																			POU5F2	-	NULL		0.627	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	G	NM_153216		93076346	-1	no_errors	ENST00000510627	ensembl	human	known	70_37	silent	SNP	0.001	C	C	93076346	G	C	93076346	2	2	97	1	0	0	0	0	0	0	0	1	12307	929	33	1		1	POU5F2	5	93076346	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2406734	93076346	87838914	188	13912										
MCC	4163	genome.wustl.edu	37	chr5	112389569	112389569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgaccgcagccctgtcattCttgagctgctggatataatc	9	11	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:112389569C>T	ENST00000302475.4	-	13	2294	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	MCC_ENST00000515367.2_Silent_p.K514K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.K767K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	577					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCCTGTCATTCTTGAGCTGCT	0.537																																																	0													116	105	109					5																	112389569		2202	4300	6502	SO:0001819	synonymous_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1731G>A	5.37:g.112389569C>T			D3DT05|Q6ZR04	Silent	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.K577	ENST00000302475.4	37	c.1731	CCDS4111.1	5																																																																																			MCC	-	NULL		0.537	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112389569	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112389569	C	T	112389569	2	4	97	1	0	0	0	0	0	0	0	1	9396	912	32	1		1	MCC	5	112389569	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	19313223	112389569	68525691	189	13913										
MCC	4163	genome.wustl.edu	37	chr5	112437442	112437442	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcagcatgctcaccctcctCcggagccggtcccgctcttc	9	19	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:112437442C>A	ENST00000302475.4	-	6	1385	c.822G>T	c.(820-822)cgG>cgT	p.R274R	MCC_ENST00000515367.2_Silent_p.R211R|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.R464R	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	274					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCACCCTCCTCCGGAGCCGGT	0.577																																																	0													98	94	95					5																	112437442		2202	4300	6502	SO:0001819	synonymous_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.822G>T	5.37:g.112437442C>A			D3DT05|Q6ZR04	Silent	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R274	ENST00000302475.4	37	c.822	CCDS4111.1	5																																																																																			MCC	-	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm		0.577	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112437442	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	silent	SNP	0.999	A	A	112437442	C	A	112437442	2	1	97	1	0	0	0	0	0	0	0	1	9396	842	30	3		3	MCC	5	112437442	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	47873	112437442	68477818	190	13914										
YTHDC2	64848	genome.wustl.edu	37	chr5	112902973	112902973	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttcatcctgcttcagttctCagtcagcctcaatataaaaa	4	11	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:112902973C>G	ENST00000161863.4	+	22	3240	c.3027C>G	c.(3025-3027)ctC>ctG	p.L1009L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1009					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTTCAGTTCTCAGTCAGCCTC	0.383																																																	0													108	101	103					5																	112902973		2202	4300	6502	SO:0001819	synonymous_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3027C>G	5.37:g.112902973C>G			B2RP66	Silent	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1009	ENST00000161863.4	37	c.3027	CCDS4113.1	5																																																																																			YTHDC2	-	pfam_DUF1605		0.383	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	C	NM_022828		112902973	1	no_errors	ENST00000161863	ensembl	human	known	70_37	silent	SNP	1.000	G	G	112902973	C	G	112902973	2	3	97	1	0	0	0	0	0	0	0	1	17528	813	29	1		1	YTHDC2	5	112902973	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	465531	112902973	68012287	191	13915										
C5orf56	441108	genome.wustl.edu	37	chr5	131796346	131796346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gccatcctgccttccccgtgGagtacagccatgctgtctgc	10	16	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:131796346G>C	ENST00000337752.2	+	4	312	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	61										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						cttccccgtggagtacagcca	0.478																																																	0													174	152	160					5																	131796346		2203	4300	6503	SO:0001583	missense	441108			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.181G>C	5.37:g.131796346G>C	ENSP00000338228:p.Glu61Gln		A1L3V9|A6NKA0	Missense_Mutation	SNP	NULL	p.E61Q	ENST00000337752.2	37	c.181		5	.	.	.	.	.	.	.	.	.	.	G	8.503	0.864756	0.17250	.	.	ENSG00000197536	ENST00000337752	.	.	.	2.44	-0.464	0.12160	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	0.999998	B	0.33318	0.408	B	0.27076	0.076	T	0.18272	-1.0342	7	0.87932	D	0	.	2.9841	0.05962	0.2952:0.2377:0.4671:0.0	.	61	Q8N8D9	CE056_HUMAN	Q	61	.	ENSP00000338228:E61Q	E	+	1	0	C5orf56	131824245	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.511000	0.06321	-0.132000	0.11557	-0.140000	0.14226	GAG	C5orf56	-	NULL		0.478	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	C5orf56	HGNC	protein_coding	OTTHUMT00000132329.1	G	NM_001013717		131796346	1	no_errors	ENST00000337752	ensembl	human	novel	70_37	missense	SNP	0.005	C	C	131796346	G	C	131796346	3	2	97	1	0	0	0	0	1	0	0	0	2317	1175	41	1	191	1	C5orf56	5	131796346	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	18893373	131796346	49118914	192	13916										
PKD2L2	51306	genome.wustl.edu	37	chr5	137275821	137275821	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgagattctctgagtgcctGacaaaacgaatttaagtacc	8	8	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:137275821G>C	ENST00000033079.3	-	0	3292				PKD2L2_ENST00000290431.5_Silent_p.L609L|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000508638.1_3'UTR|PKD2L2_ENST00000502810.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CTGAGTGCCTGACAAAACGAA	0.398																																																	0													132	132	132					5																	137275821		2203	4300	6503	SO:0001624	3_prime_UTR_variant	27039			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.*93C>G	5.37:g.137275821G>C			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.L609	ENST00000033079.3	37	c.1827	CCDS4195.1	5																																																																																			PKD2L2	-	NULL		0.398	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000251279.1	G			137275821	1	no_errors	ENST00000290431	ensembl	human	known	70_37	silent	SNP	1.000	C	C	137275821	G	C	137275821	1	2	97	0	1	0	0	0	0	0	0	0	11992	1277	45	1		1	PKD2L2	5	137275821	3'UTR	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5479475	137275821	43639439	193	13917										
EGR1	1958	genome.wustl.edu	37	chr5	137801512	137801512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcagatctctgacccgttcgGatcctttcctcactcgccca	7	17	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:137801512G>A	ENST00000239938.4	+	1	334	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	21					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACCCGTTCGGATCCTTTCCT	0.667																																																	0													82	73	76					5																	137801512		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.62G>A	5.37:g.137801512G>A	ENSP00000239938:p.Gly21Glu			Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G21E	ENST00000239938.4	37	c.62	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	g	20.4	3.992548	0.74703	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.11495	2.77	5.0	4.13	0.48395	.	0.225181	0.38005	N	0.001849	T	0.12817	0.0311	L	0.46157	1.445	0.37500	D	0.916747	P;B	0.44241	0.829;0.437	B;B	0.41571	0.36;0.186	T	0.08086	-1.0739	10	0.87932	D	0	-22.72	13.3921	0.60830	0.076:0.0:0.924:0.0	.	21;21	B4DNX4;P18146	.;EGR1_HUMAN	E	21	ENSP00000239938:G21E	ENSP00000239938:G21E	G	+	2	0	EGR1	137829411	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.094000	0.76944	1.342000	0.45619	0.486000	0.48141	GGA	EGR1	-	NULL		0.667	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	G	NM_001964		137801512	1	no_errors	ENST00000239938	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137801512	G	A	137801512	3	1	97	1	0	0	0	0	1	0	0	0	4981	1174	41	1	64	1	EGR1	5	137801512	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	525691	137801512	43113748	194	13918										
EGR1	1958	genome.wustl.edu	37	chr5	137803193	137803193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgatcgccgcttctcccgctCcgacgagctcacccgccaca	8	20	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:137803193C>T	ENST00000239938.4	+	2	1327	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	352					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCGCTCCGACGAGCTC	0.662																																																	0													62	65	64					5																	137803193		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1055C>T	5.37:g.137803193C>T	ENSP00000239938:p.Ser352Phe			Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S352F	ENST00000239938.4	37	c.1055	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916549	0.52546	.	.	ENSG00000120738	ENST00000239938	T	0.16196	2.36	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.90483	3.12	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	T	0.61073	-0.7136	10	0.87932	D	0	-15.1024	15.72	0.77700	0.0:1.0:0.0:0.0	.	352	P18146	EGR1_HUMAN	F	352	ENSP00000239938:S352F	ENSP00000239938:S352F	S	+	2	0	EGR1	137831092	1.000000	0.71417	0.723000	0.30687	0.887000	0.51463	7.651000	0.83577	2.177000	0.69029	0.563000	0.77884	TCC	EGR1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	C	NM_001964		137803193	1	no_errors	ENST00000239938	ensembl	human	known	70_37	missense	SNP	0.998	T	T	137803193	C	T	137803193	3	4	97	1	0	0	0	0	1	0	0	0	4981	855	30	1	1061	1	EGR1	5	137803193	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1681	137803193	43112067	195	13919										
ANKHD1	54882	genome.wustl.edu	37	chr5	139838437	139838437	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagaaatggtggcactactCttagcacaaggtaaagcagt	11	7	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:139838437C>T	ENST00000360839.2	+	8	1624	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ANKHD1_ENST00000394723.3_Silent_p.L490L|ANKHD1_ENST00000394722.3_Silent_p.L479L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L490L|ANKHD1_ENST00000297183.6_Silent_p.L490L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	490						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACTACTCTTAGCACAAG	0.378																																																	0													95	92	93					5																	139838437		2203	4300	6503	SO:0001819	synonymous_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1470C>T	5.37:g.139838437C>T			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L490	ENST00000360839.2	37	c.1470	CCDS4225.1	5																																																																																			ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139838437	1	no_errors	ENST00000297183	ensembl	human	known	70_37	silent	SNP	0.708	T	T	139838437	C	T	139838437	2	4	97	1	0	0	0	0	0	0	0	1	628	900	32	1		1	ANKHD1	5	139838437	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2035244	139838437	41076823	196	13920										
PCDHA5	56143	genome.wustl.edu	37	chr5	140203223	140203223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggcagtgcgcgcatcccgttCcgcgtggggctgtacacagg	16	13	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140203223C>G	ENST00000529859.1	+	1	1863	c.1863C>G	c.(1861-1863)ttC>ttG	p.F621L	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.F621L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.F621L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.637																																																	0													76	79	78					5																	140203223		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1863C>G	5.37:g.140203223C>G	ENSP00000436557:p.Phe621Leu		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F621L	ENST00000529859.1	37	c.1863	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564026	0.45694	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.70749	-0.51;-0.51;-0.51	3.76	0.908	0.19326	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82213	0.4988	M	0.92169	3.28	0.26128	N	0.980459	D;P;P	0.61080	0.989;0.902;0.902	P;P;B	0.59546	0.859;0.523;0.444	T	0.70952	-0.4732	9	0.87932	D	0	.	4.5985	0.12341	0.0:0.496:0.152:0.352	.	621;621;621	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	621	ENSP00000433416:F621L;ENSP00000436557:F621L;ENSP00000367366:F621L	ENSP00000367366:F621L	F	+	3	2	PCDHA5	140183407	0.866000	0.29940	0.991000	0.47740	0.751000	0.42716	1.495000	0.35627	-0.052000	0.13311	0.306000	0.20318	TTC	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	C	NM_018908		140203223	1	no_errors	ENST00000529859	ensembl	human	known	70_37	missense	SNP	0.994	G	G	140203223	C	G	140203223	3	3	97	1	0	0	0	0	1	0	0	0	11551	854	30	1	1865	1	PCDHA5	5	140203223	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	364786	140203223	40712037	197	13921										
PCDHA10	56139	genome.wustl.edu	37	chr5	140237744	140237744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgatcatcgccatctgcgCggtgtccagcttgctggtgc	12	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140237744C>T	ENST00000307360.5	+	1	2111	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTGTCCAGC	0.687																																																	0													31	25	27					5																	140237744		1322	2291	3613	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2111C>T	5.37:g.140237744C>T	ENSP00000304234:p.Ala704Val		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A704V	ENST00000307360.5	37	c.2111	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833251	0.32421	.	.	ENSG00000250120	ENST00000307360	T	0.17370	2.28	3.66	3.66	0.41972	.	.	.	.	.	T	0.33235	0.0856	M	0.93197	3.39	0.21473	N	0.999678	B;B	0.32188	0.351;0.359	B;B	0.34991	0.193;0.082	T	0.26121	-1.0112	9	0.38643	T	0.18	.	12.6522	0.56768	0.1654:0.8346:0.0:0.0	.	704;704	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	704	ENSP00000304234:A704V	ENSP00000304234:A704V	A	+	2	0	PCDHA10	140217928	0.609000	0.26975	0.998000	0.56505	0.187000	0.23431	1.765000	0.38481	2.025000	0.59659	0.491000	0.48974	GCG	PCDHA10	-	NULL		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	C	NM_018901		140237744	1	no_errors	ENST00000307360	ensembl	human	known	70_37	missense	SNP	0.914	T	T	140237744	C	T	140237744	3	4	97	1	0	0	0	0	1	0	0	0	11544	768	27	2	2113	2	PCDHA10	5	140237744	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	34521	140237744	40677516	198	13922										
PCDHB15	56121	genome.wustl.edu	37	chr5	140625174	140625174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgcaggggagcgctttcccGaacaaaggcaagtcctgatt	12	11	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140625174G>A	ENST00000231173.3	+	1	28	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	10					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTTTCCCGAACAAAGGCA	0.542																																																	0													58	64	62					5																	140625174		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.28G>A	5.37:g.140625174G>A	ENSP00000231173:p.Glu10Lys		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E10K	ENST00000231173.3	37	c.28	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005010	0.35415	.	.	ENSG00000113248	ENST00000231173	T	0.48522	0.81	3.96	-6.92	0.01644	.	.	.	.	.	T	0.14743	0.0356	N	0.00991	-1.07	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30357	-0.9981	9	0.29301	T	0.29	.	7.9183	0.29831	0.1863:0.5131:0.3006:0.0	.	10	Q9Y5E8	PCDBF_HUMAN	K	10	ENSP00000231173:E10K	ENSP00000231173:E10K	E	+	1	0	PCDHB15	140605358	0.003000	0.15002	0.068000	0.19968	0.571000	0.35966	0.032000	0.13732	-1.396000	0.02071	-0.339000	0.08088	GAA	PCDHB15	-	NULL		0.542	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	G	NM_018935		140625174	1	no_errors	ENST00000231173	ensembl	human	known	70_37	missense	SNP	0.005	A	A	140625174	G	A	140625174	3	1	97	1	0	0	0	0	1	0	0	0	11564	1059	37	1	30	1	PCDHB15	5	140625174	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	387430	140625174	40290086	199	13923										
PCDHGA7	56108	genome.wustl.edu	37	chr5	140764536	140764536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccttacaactatgacctcacGttgtacctggtggtggcggt	11	11	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140764536G>A	ENST00000518325.1	+	1	2070	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	690					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACCTCACGTTGTACCTGG	0.637																																																	0													65	71	69					5																	140764536		2203	4300	6503	SO:0001819	synonymous_variant	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2070G>A	5.37:g.140764536G>A			B2RN87|Q9Y5D0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T690	ENST00000518325.1	37	c.2070	CCDS54927.1	5																																																																																			PCDHGA7	-	NULL		0.637	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	G	NM_018920		140764536	1	no_errors	ENST00000518325	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140764536	G	A	140764536	2	1	97	1	0	0	0	0	0	0	0	1	11583	1132	40	2		2	PCDHGA7	5	140764536	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	139362	140764536	40150724	200	13924										
PCDHGB6	56100	genome.wustl.edu	37	chr5	140789474	140789474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgctgtacccagctctgggtCctgacggctccgcgttcttc	11	15	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140789474C>G	ENST00000520790.1	+	1	1705	c.1705C>G	c.(1705-1707)Cct>Gct	p.P569A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGGGTCCTGACGGCTC	0.652																																																	0													27	36	33					5																	140789474		2133	4252	6385	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1705C>G	5.37:g.140789474C>G	ENSP00000428603:p.Pro569Ala		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P569A	ENST00000520790.1	37	c.1705	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.683128	0.00745	.	.	ENSG00000253305	ENST00000520790	T	0.50001	0.76	5.36	4.49	0.54785	Cadherin-like (1);	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B;B	0.31859	0.343;0.089	B;B	0.33620	0.167;0.162	T	0.17837	-1.0356	9	0.11485	T	0.65	.	5.6936	0.17843	0.1399:0.6476:0.1358:0.0767	.	569;569	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	A	569	ENSP00000428603:P569A	ENSP00000428603:P569A	P	+	1	0	PCDHGB6	140769658	0.000000	0.05858	0.527000	0.27925	0.025000	0.11179	-0.296000	0.08287	2.517000	0.84864	0.462000	0.41574	CCT	PCDHGB6	-	superfamily_Cadherin-like		0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	C	NM_018926		140789474	1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	0.011	G	G	140789474	C	G	140789474	3	3	97	1	0	0	0	0	1	0	0	0	11591	855	30	1	1707	1	PCDHGB6	5	140789474	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	24938	140789474	40125786	201	13925										
HDAC3	8841	genome.wustl.edu	37	chr5	141007738	141007738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acctggttgataaccggctgGaaaaggtgcttgtaacctgg	13	8	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:141007738G>C	ENST00000305264.3	-	9	787	c.708C>G	c.(706-708)ttC>ttG	p.F236L	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	236	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TAACCGGCTGGAAAAGGTGCT	0.552																																																	0													78	64	69					5																	141007738		2203	4300	6503	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.708C>G	5.37:g.141007738G>C	ENSP00000302967:p.Phe236Leu		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.F236L	ENST00000305264.3	37	c.708	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234926	0.58886	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	T;T	0.70631	-0.5;-0.5	5.57	5.57	0.84162	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.70787	2.145	0.80722	D	1	P	0.40931	0.733	B	0.43701	0.428	T	0.78623	-0.2132	10	0.72032	D	0.01	-19.6594	19.3421	0.94347	0.0:0.0:1.0:0.0	.	236	O15379	HDAC3_HUMAN	L	236;161	ENSP00000302967:F236L;ENSP00000429099:F161L	ENSP00000302967:F236L	F	-	3	2	HDAC3	140987922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.614000	0.61183	2.902000	0.99343	0.650000	0.86243	TTC	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1		0.552	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	G	NM_003883		141007738	-1	no_errors	ENST00000305264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141007738	G	C	141007738	3	2	97	1	0	0	0	0	1	0	0	0	7028	1165	41	1	606	1	HDAC3	5	141007738	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	218264	141007738	39907522	202	13926										
SH3RF2	153769	genome.wustl.edu	37	chr5	145379827	145379827	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccccgctctgcagggccctCtacaacttcgacctacgagg	9	18	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602																																																	0													39	42	41					5																	145379827		2203	4300	6503	SO:0001819	synonymous_variant	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.585C>G	5.37:g.145379827C>G			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.L195	ENST00000511217.1	37	c.585	CCDS4280.1	5																																																																																			SH3RF2	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.602	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	C	NM_152550		145379827	1	no_errors	ENST00000359120	ensembl	human	known	70_37	silent	SNP	1.000	G	G	145379827	C	G	145379827	2	3	97	1	0	0	0	0	0	0	0	1	14289	900	32	1		1	SH3RF2	5	145379827	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4372089	145379827	35535433	203	13927										
DPYSL3	1809	genome.wustl.edu	37	chr5	146775188	146775188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cggccgagtaggagagccccGagcagagcctgcgggggtgc	19	12	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:146775188G>A	ENST00000398514.3	-	13	1929	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	DPYSL3_ENST00000534907.1_Missense_Mutation_p.R146W|DPYSL3_ENST00000343218.5_Missense_Mutation_p.R634W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	520					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGCCCCGAGCAGAGCCT	0.587																																																	0													35	38	37					5																	146775188		1934	4116	6050	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1558C>T	5.37:g.146775188G>A	ENSP00000381526:p.Arg520Trp		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R520W	ENST00000398514.3	37	c.1558	CCDS43381.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.24|15.24	2.773739|2.773739	0.49786|0.49786	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907|ENST00000520473	D;D;T|.	0.86030|.	-2.03;-2.06;-0.88|.	5.61|5.61	4.66|4.66	0.58398|0.58398	.|.	0.234557|.	0.40818|.	N|.	0.001002|.	T|T	0.59376|0.59376	0.2189|0.2189	L|L	0.41492|0.41492	1.28|1.28	0.47621|0.47621	D|D	0.999477|0.999477	D;P|.	0.64830|.	0.994;0.587|.	P;B|.	0.57468|.	0.821;0.031|.	T|T	0.54892|0.54892	-0.8225|-0.8225	10|5	0.87932|.	D|.	0|.	-24.677|-24.677	15.3044|15.3044	0.73982|0.73982	0.0:0.0:0.7634:0.2366|0.0:0.0:0.7634:0.2366	.|.	634;520|.	B3SXQ8;Q14195|.	.;DPYL3_HUMAN|.	W|L	520;634;146|158	ENSP00000381526:R520W;ENSP00000343690:R634W;ENSP00000441819:R146W|.	ENSP00000343690:R634W|.	R|S	-|-	1|2	2|0	DPYSL3|DPYSL3	146755381|146755381	0.117000|0.117000	0.22190|0.22190	0.999000|0.999000	0.59377|0.59377	0.212000|0.212000	0.24457|0.24457	1.290000|1.290000	0.33319|0.33319	2.632000|2.632000	0.89209|0.89209	0.591000|0.591000	0.81541|0.81541	CGG|TCG	DPYSL3	-	NULL		0.587	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	G	NM_001387		146775188	-1	no_errors	ENST00000398514	ensembl	human	known	70_37	missense	SNP	0.702	A	A	146775188	G	A	146775188	3	1	97	1	0	0	0	0	1	0	0	0	4758	1057	37	1	162	1	DPYSL3	5	146775188	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1395361	146775188	34140072	204	13928										
FAT2	2196	genome.wustl.edu	37	chr5	150920207	150920207	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagcctggaacttgccatcaGatgctgtgactctgagcaag	11	10	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:150920207G>C	ENST00000261800.5	-	10	8972	c.8960C>G	c.(8959-8961)tCt>tGt	p.S2987C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2987	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCATCAGATGCTGTGAC	0.537																																																	0													114	93	100					5																	150920207		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8960C>G	5.37:g.150920207G>C	ENSP00000261800:p.Ser2987Cys		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2987C	ENST00000261800.5	37	c.8960	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064115	0.76187	.	.	ENSG00000086570	ENST00000261800	T	0.01871	4.59	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000022	T	0.12817	0.0311	M	0.70275	2.135	0.50171	D	0.999858	D	0.89917	1.0	D	0.81914	0.995	T	0.00273	-1.1858	10	0.62326	D	0.03	.	18.8671	0.92296	0.0:0.0:1.0:0.0	.	2987	Q9NYQ8	FAT2_HUMAN	C	2987	ENSP00000261800:S2987C	ENSP00000261800:S2987C	S	-	2	0	FAT2	150900400	1.000000	0.71417	0.529000	0.27951	0.925000	0.55904	7.843000	0.86859	2.471000	0.83476	0.563000	0.77884	TCT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150920207	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.979	C	C	150920207	G	C	150920207	3	2	97	1	0	0	0	0	1	0	0	0	5708	942	33	1	4145	1	FAT2	5	150920207	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4145019	150920207	29995053	205	13929										
FAM114A2	10827	genome.wustl.edu	37	chr5	153372602	153372602	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gattcaatcttgttctcaatGagagagatctctagcacagg	9	8	4	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:153372602G>C	ENST00000351797.4	-	14	1528	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	FAM114A2_ENST00000520313.1_Silent_p.L414L|FAM114A2_ENST00000522858.1_Silent_p.L484L|FAM114A2_ENST00000520667.1_Silent_p.L484L|FAM114A2_ENST00000518946.1_5'UTR	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	484							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGTTCTCAATGAGAGAGATCT	0.443																																																	0													141	132	135					5																	153372602		2203	4300	6503	SO:0001819	synonymous_variant	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1452C>G	5.37:g.153372602G>C			B2R8D8|Q9H7E0	Silent	SNP	pfam_DUF719	p.L484	ENST00000351797.4	37	c.1452	CCDS4323.1	5																																																																																			FAM114A2	-	NULL		0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	G	NM_018691		153372602	-1	no_errors	ENST00000351797	ensembl	human	known	70_37	silent	SNP	1.000	C	C	153372602	G	C	153372602	2	2	97	1	0	0	0	0	0	0	0	1	5419	1277	45	1		1	FAM114A2	5	153372602	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2452395	153372602	27542658	206	13930										
STK10	6793	genome.wustl.edu	37	chr5	171614915	171614915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taaaccttgccgaaggcgccGtcgcccagctcgcccacgat	10	17	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:171614915G>A	ENST00000176763.5	-	1	475	c.132C>T	c.(130-132)gaC>gaT	p.D44D		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	44	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGAAGGCGCCGTCGCCCAGCT	0.672																																																	0													30	30	30					5																	171614915		2203	4300	6503	SO:0001819	synonymous_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.132C>T	5.37:g.171614915G>A			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	pfam_PKK,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.D44	ENST00000176763.5	37	c.132	CCDS34290.1	5																																																																																			STK10	-	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		0.672	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	G	NM_005990		171614915	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	silent	SNP	1.000	A	A	171614915	G	A	171614915	2	1	97	1	0	0	0	0	0	0	0	1	15316	1136	40	2		2	STK10	5	171614915	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	18242313	171614915	9300345	207	13931										
C5orf25	375484	genome.wustl.edu	37	chr5	175772332	175772332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcctgatccagatgctggggGagcctcttgtcccccaactc	11	15	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:175772332G>A	ENST00000443967.1	+	12	2910	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	SIMC1_ENST00000341199.6_Missense_Mutation_p.E420K|SIMC1_ENST00000332772.4_Missense_Mutation_p.E296K|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'Flank|SIMC1_ENST00000430704.2_Missense_Mutation_p.E420K			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	835							SUMO polymer binding (GO:0032184)										GATGCTGGGGGAGCCTCTTGT	0.537																																																	0													72	73	73					5																	175772332		2203	4300	6503	SO:0001583	missense	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2503G>A	5.37:g.175772332G>A	ENSP00000406571:p.Glu835Lys		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.E835K	ENST00000443967.1	37	c.2503		5	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385300	0.61956	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.32753	1.87;1.87;2.14;1.44	5.44	4.53	0.55603	.	0.179201	0.36101	N	0.002796	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	P;P;D	0.67145	0.728;0.939;0.996	B;P;D	0.76071	0.275;0.554;0.987	T	0.22977	-1.0201	10	0.49607	T	0.09	-13.8242	10.7833	0.46390	0.0:0.1396:0.7157:0.1447	.	296;420;835	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	K	420;420;835;296	ENSP00000342075:E420K;ENSP00000409287:E420K;ENSP00000406571:E835K;ENSP00000331311:E296K	ENSP00000331311:E296K	E	+	1	0	C5orf25	175704938	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.398000	0.20899	2.831000	0.97527	0.650000	0.86243	GAG	SIMC1	-	NULL		0.537	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	G	NM_198567		175772332	1	no_errors	ENST00000443967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	175772332	G	A	175772332	3	1	97	1	0	0	0	0	1	0	0	0	2293	1175	41	1	1292	1	C5orf25	5	175772332	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4157417	175772332	5142928	208	13932										
GPRIN1	114787	genome.wustl.edu	37	chr5	176025280	176025280	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tctccgaggacaggggatctCcttttccccccgtcgctggc	11	16	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176025280C>G	ENST00000303991.4	-	2	1733	c.1556G>C	c.(1555-1557)gGa>gCa	p.G519A		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	519					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGGATCTCCTTTTCCCCC	0.642																																																	0													54	55	55					5																	176025280		2203	4300	6503	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1556G>C	5.37:g.176025280C>G	ENSP00000305839:p.Gly519Ala		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.G519A	ENST00000303991.4	37	c.1556	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	2.136	-0.397926	0.04865	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.07444	3.19	4.23	-2.52	0.06346	.	0.479326	0.15649	N	0.251494	T	0.02267	0.0070	N	0.04768	-0.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42515	-0.9447	10	0.06757	T	0.87	-0.756	1.7248	0.02919	0.2005:0.4202:0.1722:0.2071	.	519	Q7Z2K8	GRIN1_HUMAN	A	519	ENSP00000305839:G519A	ENSP00000305839:G519A	G	-	2	0	GPRIN1	175957886	0.000000	0.05858	0.020000	0.16555	0.092000	0.18411	-0.361000	0.07612	-0.152000	0.11156	0.455000	0.32223	GGA	GPRIN1	-	NULL		0.642	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	C	NM_052899		176025280	-1	no_errors	ENST00000303991	ensembl	human	known	70_37	missense	SNP	0.023	G	G	176025280	C	G	176025280	3	3	97	1	0	0	0	0	1	0	0	0	6749	855	30	1	1474	1	GPRIN1	5	176025280	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	252948	176025280	4889980	209	13933										
FGFR4	2264	genome.wustl.edu	37	chr5	176524393	176524393	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggtcctgctggccgtctctGaggaggtacagcccctccca	12	15	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176524393G>A	ENST00000292408.4	+	17	2499	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	FGFR4_ENST00000292410.3_Missense_Mutation_p.E712K|FGFR4_ENST00000393648.2_Missense_Mutation_p.E684K|FGFR4_ENST00000502906.1_Missense_Mutation_p.E752K|FGFR4_ENST00000393637.1_Missense_Mutation_p.E712K	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGCCGTCTCTGAGGAGGTACA	0.687										TSP Lung(9;0.080)																																							0													36	36	36					5																	176524393		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2254G>A	5.37:g.176524393G>A	ENSP00000292408:p.Glu752Lys		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E752K	ENST00000292408.4	37	c.2254	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311877	0.60414	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.78816	-1.21;-1.12;-1.21;-1.17;-1.17	4.63	4.63	0.57726	Protein kinase, catalytic domain (1);	0.099914	0.64402	D	0.000002	T	0.67618	0.2912	N	0.21324	0.655	0.51482	D	0.999927	B;P;P	0.48162	0.33;0.686;0.906	B;B;B	0.40375	0.041;0.127;0.327	T	0.74937	-0.3494	10	0.72032	D	0.01	.	17.1053	0.86660	0.0:0.0:1.0:0.0	.	684;712;752	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	K	752;684;752;712;712;980	ENSP00000292408:E752K;ENSP00000377259:E684K;ENSP00000424960:E752K;ENSP00000292410:E712K;ENSP00000377254:E712K	ENSP00000292408:E752K	E	+	1	0	FGFR4	176456999	0.999000	0.42202	0.998000	0.56505	0.648000	0.38561	2.846000	0.48262	2.125000	0.65367	0.313000	0.20887	GAG	FGFR4	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.687	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	G			176524393	1	no_errors	ENST00000292408	ensembl	human	known	70_37	missense	SNP	0.998	A	A	176524393	G	A	176524393	3	1	97	1	0	0	0	0	1	0	0	0	5886	1291	45	1	2386	1	FGFR4	5	176524393	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	499113	176524393	4390867	210	13934										
NSD1	64324	genome.wustl.edu	37	chr5	176638922	176638922	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actaaacctcgtaagcgcatGaacagatttaaagagaaaga	8	7	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176638922G>A	ENST00000439151.2	+	5	3567	c.3522G>A	c.(3520-3522)atG>atA	p.M1174I	NSD1_ENST00000354179.4_Missense_Mutation_p.M905I|NSD1_ENST00000347982.4_Missense_Mutation_p.M905I|NSD1_ENST00000361032.4_Missense_Mutation_p.M1071I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1174					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTAAGCGCATGAACAGATTTA	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													75	70	72					5																	176638922		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3522G>A	5.37:g.176638922G>A	ENSP00000395929:p.Met1174Ile		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.M1174I	ENST00000439151.2	37	c.3522	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	1.047	-0.677033	0.03378	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.91577	-2.75;-2.76;-2.75;-2.87	4.49	-3.47	0.04753	.	0.407172	0.20979	N	0.082244	T	0.66346	0.2780	N	0.02539	-0.55	0.21579	N	0.999637	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61540	-0.7042	9	.	.	.	.	1.5398	0.02553	0.1432:0.315:0.3041:0.2377	.	905;1071;1174	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	I	905;1174;905;1071	ENSP00000346111:M905I;ENSP00000395929:M1174I;ENSP00000343209:M905I;ENSP00000354310:M1071I	.	M	+	3	0	NSD1	176571528	0.001000	0.12720	0.899000	0.35326	0.874000	0.50279	-0.502000	0.06390	-0.501000	0.06605	-1.072000	0.02254	ATG	NSD1	-	NULL		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638922	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.860	A	A	176638922	G	A	176638922	3	1	97	1	0	0	0	0	1	0	0	0	10693	1290	45	1	3536	1	NSD1	5	176638922	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	114529	176638922	4276338	211	13935										
NSD1	64324	genome.wustl.edu	37	chr5	176639054	176639054	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agcatacttgaggaaccactGacagagcaaaatcatgctga	9	9	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176639054G>A	ENST00000439151.2	+	5	3699	c.3654G>A	c.(3652-3654)ctG>ctA	p.L1218L	NSD1_ENST00000354179.4_Silent_p.L949L|NSD1_ENST00000347982.4_Silent_p.L949L|NSD1_ENST00000361032.4_Silent_p.L1115L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1218					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGGAACCACTGACAGAGCAAA	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													84	82	83					5																	176639054		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3654G>A	5.37:g.176639054G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L1218	ENST00000439151.2	37	c.3654	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.493	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176639054	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.062	A	A	176639054	G	A	176639054	2	1	97	1	0	0	0	0	0	0	0	1	10693	1277	45	1		1	NSD1	5	176639054	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	132	176639054	4276206	212	13936										
DDX41	51428	genome.wustl.edu	37	chr5	176943443	176943443	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgtcttcgctgcagcagcttCtggagctgaggttccacccg	12	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176943443C>G	ENST00000507955.1	-	3	667	c.144G>C	c.(142-144)caG>caC	p.Q48H	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	48					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCAGCAGCTTCTGGAGCTGAG	0.627																																																	0													56	51	52					5																	176943443		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.144G>C	5.37:g.176943443C>G	ENSP00000422753:p.Gln48His		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q48H	ENST00000507955.1	37	c.144	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317103	0.40996	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28454	1.61;1.63	5.31	4.44	0.53790	.	0.288007	0.33854	N	0.004486	T	0.25044	0.0608	L	0.43152	1.355	0.50813	D	0.999897	B	0.27068	0.167	B	0.26614	0.071	T	0.04165	-1.0972	10	0.22109	T	0.4	-22.8126	11.1868	0.48662	0.0:0.8514:0.0:0.1486	.	48	Q9UJV9	DDX41_HUMAN	H	66;48	ENSP00000330349:Q66H;ENSP00000422753:Q48H	ENSP00000330349:Q66H	Q	-	3	2	DDX41	176876049	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.026000	0.30103	1.238000	0.43771	0.549000	0.68633	CAG	DDX41	-	NULL		0.627	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176943443	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176943443	C	G	176943443	3	3	97	1	0	0	0	0	1	0	0	0	4366	912	32	1	1784	1	DDX41	5	176943443	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	304389	176943443	3971817	213	13937										
ATF6B	1388	genome.wustl.edu	37	chr6	32095492	32095492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagagctgcgtctgctcctCggccacttcatctaggccag	11	14	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:32095492C>T	ENST00000375203.3	-	2	159	c.127G>A	c.(127-129)Gag>Aag	p.E43K	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.E40K	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	43	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GTCTGCTCCTCGGCCACTTCA	0.592																																																	0													82	84	83					6																	32095492		2203	4300	6503	SO:0001583	missense	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.127G>A	6.37:g.32095492C>T	ENSP00000364349:p.Glu43Lys		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.E43K	ENST00000375203.3	37	c.127	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063862	0.76187	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.57752	0.38;1.14	4.87	4.87	0.63330	.	0.099684	0.40144	U	0.001164	T	0.41305	0.1153	L	0.60455	1.87	0.33689	D	0.613033	D;P;P	0.59767	0.986;0.921;0.725	P;B;B	0.47705	0.555;0.162;0.054	T	0.36890	-0.9729	10	0.26408	T	0.33	-8.777	13.3808	0.60766	0.0:1.0:0.0:0.0	.	43;40;43	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	K	43;43;40	ENSP00000364349:E43K;ENSP00000364347:E40K	ENSP00000364338:E43K	E	-	1	0	ATF6B	32203470	0.995000	0.38212	0.997000	0.53966	0.959000	0.62525	3.473000	0.53122	2.518000	0.84900	0.655000	0.94253	GAG	ATF6B	-	NULL		0.592	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	C			32095492	-1	no_errors	ENST00000375203	ensembl	human	known	70_37	missense	SNP	0.998	T	T	32095492	C	T	32095492	3	4	97	1	0	0	0	0	1	0	0	0	1086	893	31	1	2052	1	ATF6B	6	32095492	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		32095492	139019575	214	13938										
AGER	177	genome.wustl.edu	37	chr6	32148952	32148952	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agtactactctcgcctgcctCaggttcctccgactgattca	7	15	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:32148952C>T	ENST00000375076.4	-	11	1284	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	AGER_ENST00000375067.3_Silent_p.*343*|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375070.3_Missense_Mutation_p.E426K|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Missense_Mutation_p.E285K	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	395					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCGCCTGCCTCAGGTTCCTCC	0.557																																																	0													181	192	188					6																	32148952		2203	4300	6503	SO:0001583	missense	177			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1183G>A	6.37:g.32148952C>T	ENSP00000364217:p.Glu395Lys		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E426K	ENST00000375076.4	37	c.1276	CCDS4746.1	6	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805829	0.31961	.	.	ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059	T;T;T	0.39229	1.09;1.09;1.09	5.18	4.31	0.51392	.	0.000000	0.64402	D	0.000013	T	0.41003	0.1140	.	.	.	0.58432	D	0.999991	P;P;P;P	0.51240	0.943;0.884;0.884;0.884	P;B;B;B	0.52066	0.689;0.275;0.358;0.275	T	0.46665	-0.9175	9	0.87932	D	0	-18.7881	11.9203	0.52787	0.0:0.8243:0.1757:0.0	.	285;381;411;395	A8MS87;Q3L1R5;Q3L1R8;Q15109	.;.;.;RAGE_HUMAN	K	395;426;144;285;124	ENSP00000364217:E395K;ENSP00000364211:E426K;ENSP00000364210:E285K	ENSP00000364199:E124K	E	-	1	0	AGER	32256930	0.320000	0.24616	0.027000	0.17364	0.268000	0.26511	1.782000	0.38654	1.193000	0.43086	-0.359000	0.07587	GAG	AGER	-	NULL		0.557	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	C	NM_001136		32148952	-1	no_errors	ENST00000375070	ensembl	human	known	70_37	missense	SNP	0.206	T	T	32148952	C	T	32148952	3	4	97	1	0	0	0	0	1	0	0	0	379	838	29	1	35	1	AGER	6	32148952	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	53460	32148952	138966115	215	13939										
ZNF76	7629	genome.wustl.edu	37	chr6	35261672	35261672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagtcaccatggtcagcgccGatggcacccagacgcagccc	11	17	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:35261672G>A	ENST00000373953.3	+	12	1740	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZNF76_ENST00000440666.2_Missense_Mutation_p.D466N|ZNF76_ENST00000339411.5_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	492					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGTCAGCGCCGATGGCACCCA	0.572																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													107	89	95					6																	35261672		2203	4300	6503	SO:0001583	missense	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1474G>A	6.37:g.35261672G>A	ENSP00000363064:p.Asp492Asn		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D492N	ENST00000373953.3	37	c.1474	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.175161	0.94807	.	.	ENSG00000065029	ENST00000373953;ENST00000440666	T;T	0.11930	2.73;2.77	5.26	5.26	0.73747	.	0.000000	0.46442	D	0.000297	T	0.25791	0.0628	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.00294	-1.1840	10	0.54805	T	0.06	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	492	P36508	ZNF76_HUMAN	N	492;466	ENSP00000363064:D492N;ENSP00000392243:D466N	ENSP00000363064:D492N	D	+	1	0	ZNF76	35369650	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	4.904000	0.63279	2.731000	0.93534	0.650000	0.86243	GAT	ZNF76	-	NULL		0.572	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	G	NM_003427		35261672	1	no_errors	ENST00000373953	ensembl	human	known	70_37	missense	SNP	0.999	A	A	35261672	G	A	35261672	3	1	97	1	0	0	0	0	1	0	0	0	18165	1058	37	1	1516	1	ZNF76	6	35261672	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3112720	35261672	135853395	216	13940										
PTK7	5754	genome.wustl.edu	37	chr6	43109524	43109524	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccaacgggccgcagggccaGattcgtgcccatgtccagct	12	15	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:43109524G>T	ENST00000230419.4	+	11	1958	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	PTK7_ENST00000345201.2_Missense_Mutation_p.Q539H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q587H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q449H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q579H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	579	Ig-like C2-type 6.|Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGCAGGGCCAGATTCGTGCCC	0.657																																																	0													105	102	103					6																	43109524		2203	4300	6503	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1737G>T	6.37:g.43109524G>T	ENSP00000230419:p.Gln579His		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q579H	ENST00000230419.4	37	c.1737	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295650	0.81025	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.68765	-0.35;2.69;-0.35;2.69;-0.35	5.23	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.246037	0.39909	N	0.001239	T	0.62258	0.2413	L	0.41415	1.275	0.52099	D	0.999942	P;P;P;P;P	0.44281	0.755;0.831;0.725;0.659;0.767	P;P;P;B;P	0.57009	0.726;0.712;0.601;0.357;0.811	T	0.65726	-0.6098	10	0.49607	T	0.09	.	13.3607	0.60654	0.0773:0.0:0.9227:0.0	.	587;449;539;579;579	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	H	579;449;579;539;587	ENSP00000230419:Q579H;ENSP00000325462:Q449H;ENSP00000326029:Q579H;ENSP00000325992:Q539H;ENSP00000418754:Q587H	ENSP00000230418:Q579H	Q	+	3	2	PTK7	43217502	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.147000	0.58078	1.196000	0.43129	0.561000	0.74099	CAG	PTK7	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.657	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	G			43109524	1	no_errors	ENST00000230419	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43109524	G	T	43109524	3	4	97	1	0	0	0	0	1	0	0	0	12793	933	33	3	1779	3	PTK7	6	43109524	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7847852	43109524	128005543	217	13941										
TMEM63B	55362	genome.wustl.edu	37	chr6	44116106	44116106	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctttgtcaccttccacaatGagactatcaccgccatgtga	6	14	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:44116106G>A	ENST00000259746.9	+	13	1288	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	TMEM63B_ENST00000323267.6_Missense_Mutation_p.E369K			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	369					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTTCCACAATGAGACTATCAC	0.577																																																	0													118	103	108					6																	44116106		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1105G>A	6.37:g.44116106G>A	ENSP00000259746:p.Glu369Lys		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.E369K	ENST00000259746.9	37	c.1105	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.158285|4.158285	0.78114|0.78114	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.29655|.	1.56;1.56|.	4.61|4.61	4.61|4.61	0.57282|0.57282	Domain of unknown function DUF221 (1);Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43322|0.43322	0.1242|0.1242	N|N	0.25485|0.25485	0.75|0.75	0.58432|0.58432	D|D	0.999998|0.999998	B;D|.	0.71674|.	0.309;0.998|.	B;D|.	0.80764|.	0.401;0.994|.	T|T	0.33266|0.33266	-0.9875|-0.9875	10|5	0.13108|.	T|.	0.6|.	.|.	16.9823|16.9823	0.86332|0.86332	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	369;369|.	Q5T3F8;Q5T3F8-2|.	TM63B_HUMAN;.|.	K|I	369|297	ENSP00000259746:E369K;ENSP00000327154:E369K|.	ENSP00000259746:E369K|.	E|M	+|+	1|3	0|0	TMEM63B|TMEM63B	44224084|44224084	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	6.584000|6.584000	0.74057|0.74057	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	GAG|ATG	TMEM63B	-	pfam_DUF221		0.577	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	G	XM_166410		44116106	1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44116106	G	A	44116106	3	1	97	1	0	0	0	0	1	0	0	0	16221	1291	45	1	1151	1	TMEM63B	6	44116106	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1006582	44116106	126998961	218	13942										
DST	667	genome.wustl.edu	37	chr6	56347645	56347645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttcagggcctgcacactgcTggtcctcttccccaactctt	7	17	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:56347645T>C	ENST00000361203.3	-	84	20285	c.20278A>G	c.(20278-20280)Agc>Ggc	p.S6760G	DST_ENST00000446842.2_Missense_Mutation_p.S6545G|DST_ENST00000370788.2_Missense_Mutation_p.S4674G|DST_ENST00000244364.6_Missense_Mutation_p.S4457G|DST_ENST00000370769.4_Missense_Mutation_p.S6871G|DST_ENST00000370754.5_Missense_Mutation_p.S7049G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S4783G			Q03001	DYST_HUMAN	dystonin	6759					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCACACTGCTGGTCCTCTTC	0.458																																																	0													61	60	60					6																	56347645		1898	4119	6017	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20278A>G	6.37:g.56347645T>C	ENSP00000354508:p.Ser6760Gly		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S7049G	ENST00000361203.3	37	c.21145		6	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644917	0.47258	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.26231	0.0640	N	0.08118	0	0.30590	N	0.761648	D;P;B;D;B	0.65815	0.995;0.516;0.33;0.993;0.008	D;B;B;P;B	0.80764	0.994;0.267;0.12;0.869;0.02	T	0.24835	-1.0149	9	0.18276	T	0.48	.	16.1657	0.81754	0.0:0.0:0.0:1.0	.	4783;6871;7049;6869;4457	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	4457;7049;6871;4783;6545;4674;6760	ENSP00000244364:S4457G;ENSP00000359790:S7049G;ENSP00000359805:S6871G;ENSP00000400883:S4783G;ENSP00000393645:S6545G;ENSP00000359824:S4674G;ENSP00000354508:S6760G	ENSP00000244364:S4457G	S	-	1	0	DST	56455604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.276000	0.75962	0.528000	0.53228	AGC	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	T	NM_001723		56347645	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56347645	T	C	56347645	3	2	97	1	0	0	0	0	1	0	0	0	4793	1580	55	5	2206	5	DST	6	56347645	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	12231539	56347645	114767422	219	13943										
DST	667	genome.wustl.edu	37	chr6	56392496	56392496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctttgtaccttgctttaatgGcttccaatttatcttgaatt	5	8	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:56392496G>A	ENST00000361203.3	-	63	16764	c.16757C>T	c.(16756-16758)gCc>gTc	p.A5586V	DST_ENST00000446842.2_Missense_Mutation_p.A5371V|DST_ENST00000370788.2_Missense_Mutation_p.A3500V|DST_ENST00000244364.6_Missense_Mutation_p.A3283V|DST_ENST00000370769.4_Missense_Mutation_p.A5697V|DST_ENST00000370754.5_Missense_Mutation_p.A5875V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A3609V|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5586					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTTTAATGGCTTCCAATTT	0.413																																																	0													94	91	92					6																	56392496		1910	4137	6047	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16757C>T	6.37:g.56392496G>A	ENSP00000354508:p.Ala5586Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.A5875V	ENST00000361203.3	37	c.17624		6	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506611	0.64410	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51817	1.26;1.28;1.28;1.26;1.26;0.69;1.26	5.62	2.77	0.32553	.	0.126145	0.34725	N	0.003734	T	0.30916	0.0780	L	0.51422	1.61	0.27815	N	0.942017	P;P;P;B;B	0.49783	0.872;0.928;0.928;0.001;0.049	B;P;P;B;B	0.53185	0.429;0.72;0.72;0.002;0.037	T	0.13282	-1.0515	9	0.27785	T	0.31	.	4.2387	0.10638	0.0924:0.3312:0.4591:0.1173	.	3609;5697;5875;5695;3283	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	3283;5875;5697;3609;5371;3500;5586	ENSP00000244364:A3283V;ENSP00000359790:A5875V;ENSP00000359805:A5697V;ENSP00000400883:A3609V;ENSP00000393645:A5371V;ENSP00000359824:A3500V;ENSP00000354508:A5586V	ENSP00000244364:A3283V	A	-	2	0	DST	56500455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.686000	0.61700	1.357000	0.45904	0.655000	0.94253	GCC	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56392496	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56392496	G	A	56392496	3	1	97	1	0	0	0	0	1	0	0	0	4793	1203	42	4	5811	4	DST	6	56392496	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	44851	56392496	114722571	220	13944										
DST	667	genome.wustl.edu	37	chr6	56463367	56463367	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttaagctgttcacactttatCttagcttcattaagtttctg	5	8	4	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:56463367C>G	ENST00000361203.3	-	42	11209	c.11202G>C	c.(11200-11202)aaG>aaC	p.K3734N	DST_ENST00000446842.2_Missense_Mutation_p.K3410N|DST_ENST00000370788.2_Missense_Mutation_p.K1648N|DST_ENST00000244364.6_Missense_Mutation_p.K1322N|DST_ENST00000370769.4_Missense_Mutation_p.K3736N|DST_ENST00000370754.5_Missense_Mutation_p.K3914N|DST_ENST00000312431.6_Missense_Mutation_p.K3734N|DST_ENST00000421834.2_Missense_Mutation_p.K1648N			Q03001	DYST_HUMAN	dystonin	3734					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACTTTATCTTAGCTTCAT	0.353																																																	0													167	152	157					6																	56463367		1841	4084	5925	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11202G>C	6.37:g.56463367C>G	ENSP00000354508:p.Lys3734Asn		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K3914N	ENST00000361203.3	37	c.11742		6	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579103	0.28180	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.9	1.77	0.24775	.	0.110845	0.39615	N	0.001317	T	0.42404	0.1201	L	0.53780	1.695	0.28083	N	0.932106	D;B;P;B;P	0.76494	0.999;0.108;0.897;0.016;0.927	D;B;B;B;P	0.78314	0.991;0.109;0.348;0.008;0.654	T	0.32481	-0.9905	9	0.37606	T	0.19	.	5.5759	0.17222	0.1293:0.5768:0.0:0.2939	.	1648;3736;3914;3734;1322	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	1322;3914;3736;1648;3410;3734;1648;3734	ENSP00000244364:K1322N;ENSP00000359790:K3914N;ENSP00000359805:K3736N;ENSP00000400883:K1648N;ENSP00000393645:K3410N;ENSP00000307959:K3734N;ENSP00000359824:K1648N;ENSP00000354508:K3734N	ENSP00000244364:K1322N	K	-	3	2	DST	56571326	0.995000	0.38212	0.654000	0.29608	0.986000	0.74619	1.331000	0.33793	0.763000	0.33175	0.650000	0.86243	AAG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56463367	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.621	G	G	56463367	C	G	56463367	3	3	97	1	0	0	0	0	1	0	0	0	4793	912	32	1	11781	1	DST	6	56463367	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	70871	56463367	114651700	221	13945										
BAG2	9532	genome.wustl.edu	37	chr6	57048707	57048707	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgccacaaggattattgatGaggtggtcaataagtttctg	11	5	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:57048707G>C	ENST00000370693.5	+	3	727	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	BAG2_ENST00000545080.1_Missense_Mutation_p.E86Q	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	119	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTATTGATGAGGTGGTCAA	0.448																																																	0													162	157	159					6																	57048707		2203	4300	6503	SO:0001583	missense	9532			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.355G>C	6.37:g.57048707G>C	ENSP00000359727:p.Glu119Gln		B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.E119Q	ENST00000370693.5	37	c.355	CCDS4961.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100471	0.76983	.	.	ENSG00000112208	ENST00000370693;ENST00000438730;ENST00000545080	D;D	0.89681	-2.55;-2.55	6.06	6.06	0.98353	BAG domain (3);	0.126706	0.64402	D	0.000001	D	0.90442	0.7007	M	0.69823	2.125	0.80722	D	1	P;P	0.47484	0.782;0.896	P;P	0.49887	0.583;0.625	D	0.89039	0.3447	10	0.44086	T	0.13	-20.6368	20.6243	0.99512	0.0:0.0:1.0:0.0	.	86;119	B4DXE2;O95816	.;BAG2_HUMAN	Q	119;68;86	ENSP00000359727:E119Q;ENSP00000441795:E86Q	ENSP00000359727:E119Q	E	+	1	0	BAG2	57156666	1.000000	0.71417	0.995000	0.50966	0.622000	0.37654	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GAG	BAG2	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.448	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG2	HGNC	protein_coding	OTTHUMT00000041044.2	G			57048707	1	no_errors	ENST00000370693	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57048707	G	C	57048707	3	2	97	1	0	0	0	0	1	0	0	0	1288	1291	45	1	365	1	BAG2	6	57048707	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	585340	57048707	114066360	222	13946										
EYS	346007	genome.wustl.edu	37	chr6	66204828	66204828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttagtcgaagtcccagtggaCaaggtgatggaccacttgcc	12	10	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:66204828C>T	ENST00000370621.3	-	4	1002	c.476G>A	c.(475-477)tGt>tAt	p.C159Y	EYS_ENST00000342421.5_Missense_Mutation_p.C159Y|EYS_ENST00000503581.1_Missense_Mutation_p.C159Y|EYS_ENST00000370618.3_Missense_Mutation_p.C159Y|EYS_ENST00000393380.2_Missense_Mutation_p.C159Y|EYS_ENST00000370616.2_Missense_Mutation_p.C159Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	159					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCCAGTGGACAAGGTGATGG	0.423																																																	0													73	64	67					6																	66204828		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.476G>A	6.37:g.66204828C>T	ENSP00000359655:p.Cys159Tyr		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C159Y	ENST00000370621.3	37	c.476		6	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834511	0.71373	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	4.81	4.81	0.61882	.	.	.	.	.	D	0.82903	0.5138	N	0.08118	0	0.32876	D	0.509883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86088	0.1548	9	0.87932	D	0	.	14.9767	0.71281	0.0:1.0:0.0:0.0	.	159;159;159	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	Y	159	ENSP00000424243:C159Y;ENSP00000359655:C159Y;ENSP00000359650:C159Y;ENSP00000377042:C159Y;ENSP00000341818:C159Y;ENSP00000359652:C159Y	ENSP00000341818:C159Y	C	-	2	0	EYS	66261549	1.000000	0.71417	0.728000	0.30774	0.911000	0.54048	3.587000	0.53957	2.352000	0.79861	0.591000	0.81541	TGT	EYS	-	NULL		0.423	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		66204828	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66204828	C	T	66204828	3	4	97	1	0	0	0	0	1	0	0	0	5344	478	17	4	9080	4	EYS	6	66204828	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9156121	66204828	104910239	223	13947										
PREP	5550	genome.wustl.edu	37	chr6	105736680	105736680	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagccgccatagccatataaGaaagctggatgagagccatc	10	10	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:105736680G>C	ENST00000369110.3	-	11	1599	c.1407C>G	c.(1405-1407)ttC>ttG	p.F469L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	469					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCATATAAGAAAGCTGGAT	0.408																																																	0													111	110	110					6																	105736680		2203	4300	6503	SO:0001583	missense	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1407C>G	6.37:g.105736680G>C	ENSP00000358106:p.Phe469Leu		Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.F469L	ENST00000369110.3	37	c.1407	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	G	6.838	0.523920	0.13066	.	.	ENSG00000085377	ENST00000369110	T	0.20598	2.06	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00140	-2.01	0.58432	D	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.47222	-0.9134	10	0.02654	T	1	-26.5211	10.6394	0.45584	0.1455:0.0:0.8545:0.0	.	469	P48147	PPCE_HUMAN	L	469	ENSP00000358106:F469L	ENSP00000358106:F469L	F	-	3	2	PREP	105843373	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	3.928000	0.56506	1.414000	0.47017	0.555000	0.69702	TTC	PREP	-	prints_Peptidase_S9A		0.408	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	G			105736680	-1	no_errors	ENST00000369110	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105736680	G	C	105736680	3	2	97	1	0	0	0	0	1	0	0	0	12501	933	33	1	745	1	PREP	6	105736680	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	39531852	105736680	65378387	224	13948										
DDO	8528	genome.wustl.edu	37	chr6	110714285	110714285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccggggacagattccagtccCctttttgcctagttccacct	8	15	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:110714285C>A	ENST00000368924.3	-	5	818	c.803G>T	c.(802-804)gGg>gTg	p.G268V	DDO_ENST00000368923.3_Missense_Mutation_p.G209V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	240					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		ATTCCAGTCCCCTTTTTGCCT	0.532																																																	0													130	140	136					6																	110714285		2203	4300	6503	SO:0001583	missense	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.803G>T	6.37:g.110714285C>A	ENSP00000357920:p.Gly268Val		A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.G268V	ENST00000368924.3	37	c.803	CCDS5082.1	6	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303344	0.60195	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	3.83	0.44106	.	0.327689	0.32301	N	0.006282	D	0.88782	0.6530	M	0.94063	3.49	0.54753	D	0.999989	D;D	0.69078	0.997;0.967	P;P	0.62089	0.898;0.732	D	0.89700	0.3904	10	0.87932	D	0	-14.83	6.622	0.22808	0.0:0.6154:0.0:0.3846	.	209;268	Q99489-4;Q99489-3	.;.	V	268;209;240	ENSP00000357920:G268V;ENSP00000357919:G209V;ENSP00000357921:G240V	ENSP00000357919:G209V	G	-	2	0	DDO	110820978	0.993000	0.37304	0.958000	0.39756	0.969000	0.65631	1.670000	0.37502	1.479000	0.48272	0.563000	0.77884	GGG	DDO	-	pfam_FAD-dep_OxRdtase		0.532	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDO	HGNC	protein_coding	OTTHUMT00000041796.1	C			110714285	-1	no_errors	ENST00000368924	ensembl	human	known	70_37	missense	SNP	0.923	A	A	110714285	C	A	110714285	3	1	97	1	0	0	0	0	1	0	0	0	4339	623	22	4	310	4	DDO	6	110714285	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4977605	110714285	60400782	225	13949										
TSPYL1	7259	genome.wustl.edu	37	chr6	116600170	116600170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagtcatccagaagcccgggAtattctgaatgatgtagttc	10	9	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:116600170A>T	ENST00000368608.3	-	1	896	c.824T>A	c.(823-825)aTc>aAc	p.I275N	DSE_ENST00000452085.3_5'Flank|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	275					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GAAGCCCGGGATATTCTGAAT	0.522																																																	0													138	136	137					6																	116600170		2203	4300	6503	SO:0001583	missense	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.824T>A	6.37:g.116600170A>T	ENSP00000357597:p.Ile275Asn		O75885|Q5TFE6	Missense_Mutation	SNP	pfam_NAP_family	p.I275N	ENST00000368608.3	37	c.824	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	A	19.71	3.877901	0.72294	.	.	ENSG00000189241	ENST00000368608	T	0.43688	0.94	4.21	4.21	0.49690	.	0.000000	0.36066	N	0.002812	T	0.65217	0.2670	H	0.94264	3.515	0.51233	D	0.999915	D	0.76494	0.999	D	0.85130	0.997	T	0.73867	-0.3847	10	0.87932	D	0	-15.4531	9.9567	0.41671	1.0:0.0:0.0:0.0	.	275	Q9H0U9	TSYL1_HUMAN	N	275	ENSP00000357597:I275N	ENSP00000357597:I275N	I	-	2	0	TSPYL1	116706863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.169000	0.71913	2.125000	0.65367	0.379000	0.24179	ATC	TSPYL1	-	pfam_NAP_family		0.522	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	HGNC	protein_coding	OTTHUMT00000041929.1	A			116600170	-1	no_errors	ENST00000368608	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116600170	A	T	116600170	3	4	97	1	0	0	0	0	1	0	0	0	16690	333	12	5	493	5	TSPYL1	6	116600170	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	5885885	116600170	54514897	226	13950										
ACAT2	39	genome.wustl.edu	37	chr6	160183958	160183958	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctttctattgtaggttccttCaatggtgccttagctgctgt	9	9	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:160183958C>A	ENST00000367048.4	+	2	1823	c.63C>A	c.(61-63)ttC>ttA	p.F21L	ACAT2_ENST00000541436.1_Missense_Mutation_p.F50L|SOD2_ENST00000546087.1_5'Flank|SOD2_ENST00000535372.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	21					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TAGGTTCCTTCAATGGTGCCT	0.557																																																	0													169	156	161					6																	160183958		2203	4300	6503	SO:0001583	missense	39			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	100678	"acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)", "acetyl-Coenzyme A acetyltransferase 2"			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.63C>A	6.37:g.160183958C>A	ENSP00000356015:p.Phe21Leu		B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.F50L	ENST00000367048.4	37	c.150	CCDS5268.1	6	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124620	0.37533	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	T;T	0.42131	0.98;0.98	5.12	3.31	0.37934	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.115474	0.64402	D	0.000013	T	0.25791	0.0628	M	0.71581	2.175	0.58432	D	0.999999	B;B	0.20368	0.044;0.003	B;B	0.15052	0.012;0.004	T	0.29701	-1.0003	10	0.66056	D	0.02	-15.7808	9.5283	0.39178	0.0:0.7728:0.0:0.2272	.	50;21	B7Z233;Q9BWD1	.;THIC_HUMAN	L	21;50	ENSP00000356015:F21L;ENSP00000437850:F50L	ENSP00000356015:F21L	F	+	3	2	ACAT2	160103948	1.000000	0.71417	0.997000	0.53966	0.133000	0.20885	1.399000	0.34566	1.299000	0.44798	0.555000	0.69702	TTC	ACAT2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.557	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT2	HGNC	protein_coding	OTTHUMT00000042912.1	C	NM_005891		160183958	1	no_errors	ENST00000541436	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160183958	C	A	160183958	3	1	97	1	0	0	0	0	1	0	0	0	122	825	29	3	69	3	ACAT2	6	160183958	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	43583788	160183958	10931109	227	13951										
LPA	4018	genome.wustl.edu	37	chr6	161071489	161071489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgataactctgtccatcaccAtggtagcaatcctggaccac	7	14	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:161071489A>C	ENST00000316300.5	-	2	134	c.90T>G	c.(88-90)caT>caG	p.H30Q	LPA_ENST00000447678.1_Missense_Mutation_p.H30Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2538	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCCATCACCATGGTAGCAAT	0.438																																																	0													197	200	199					6																	161071489		2200	4300	6500	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.90T>G	6.37:g.161071489A>C	ENSP00000321334:p.His30Gln		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H30Q	ENST00000316300.5	37	c.90	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	a	1.505	-0.551087	0.03996	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.64991	-0.13;-0.13	2.72	-3.41	0.04839	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.18341	0.0440	N	0.21617	0.685	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.15636	-1.0430	9	0.29301	T	0.29	.	5.3109	0.15829	0.3997:0.2733:0.327:0.0	.	2538	P08519	APOA_HUMAN	Q	30	ENSP00000321334:H30Q;ENSP00000395608:H30Q	ENSP00000321334:H30Q	H	-	3	2	LPA	160991479	0.000000	0.05858	0.040000	0.18447	0.173000	0.22820	-4.408000	0.00238	-1.000000	0.03438	-0.496000	0.04628	CAT	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	A	NM_005577		161071489	-1	no_errors	ENST00000316300	ensembl	human	known	70_37	missense	SNP	0.039	C	C	161071489	A	C	161071489	3	2	97	1	0	0	0	0	1	0	0	0	8926	214	8	5	6184	5	LPA	6	161071489	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	887531	161071489	10043578	228	13952										
CARD11	84433	genome.wustl.edu	37	chr7	2962373	2962373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caacgggacactctgcctctCgcctcggatgcagccttcta	9	16	3	0	rs560138497		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:2962373C>T	ENST00000396946.4	-	17	2567	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	722	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCTGCCTCTCGCCTCGGATG	0.612			Mis		DLBCL								C|||	1	0.000199681	8e-04	0	5008	,	,		19125	0		0	False		,,,				2504	0							Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													123	82	96					7																	2962373		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2164G>A	7.37:g.2962373C>T	ENSP00000380150:p.Glu722Lys		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E722K	ENST00000396946.4	37	c.2164	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764055	0.31228	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.56941	0.43;0.43	5.14	5.14	0.70334	PDZ/DHR/GLGF (2);	0.057147	0.64402	D	0.000002	T	0.34424	0.0897	N	0.19112	0.55	0.48135	D	0.999593	B	0.25441	0.126	B	0.20184	0.028	T	0.17018	-1.0383	10	0.33141	T	0.24	-30.3844	9.2985	0.37831	0.0:0.7769:0.1459:0.0772	.	722	Q9BXL7	CAR11_HUMAN	K	722;193	ENSP00000380150:E722K;ENSP00000347695:E193K	ENSP00000347695:E193K	E	-	1	0	CARD11	2928899	0.997000	0.39634	0.977000	0.42913	0.897000	0.52465	3.427000	0.52785	2.396000	0.81511	0.555000	0.69702	GAG	CARD11	-	superfamily_PDZ		0.612	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2962373	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	0.961	T	T	2962373	C	T	2962373	3	4	97	1	0	0	0	0	1	0	0	0	2650	893	31	1	1336	1	CARD11	7	2962373	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		2962373	156176290	229	13953										
KIAA0415	9907	genome.wustl.edu	37	chr7	4827276	4827276	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcccacagttcctggcctgGaacagcccacccctcacctc	7	20	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:4827276G>A	ENST00000348624.4	+	11	1417	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	AP5Z1_ENST00000401897.1_Nonsense_Mutation_p.W441*|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	441					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCTGGCCTGGAACAGCCCAC	0.692																																																	0													32	38	36					7																	4827276		2096	4125	6221	SO:0001587	stop_gained	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1323G>A	7.37:g.4827276G>A	ENSP00000297562:p.Trp441*		Q8N3X2|Q96H80	Nonsense_Mutation	SNP	NULL	p.W441*	ENST00000348624.4	37	c.1323	CCDS47528.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.674586	0.98425	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3338	0.87274	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000297562:W441X	W	+	3	0	KIAA0415	4793802	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.353000	0.97080	2.515000	0.84797	0.549000	0.68633	TGG	AP5Z1	-	NULL		0.692	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	G			4827276	1	no_errors	ENST00000348624	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	4827276	G	A	4827276	4	1	97	1	0	0	0	0	0	1	0	0	8195	1183	41	1	1365	1	KIAA0415	7	4827276	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1864903	4827276	154311387	230	13954										
RADIL	55698	genome.wustl.edu	37	chr7	4874663	4874663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacggtcctgtgccccacctCggagaagttgacggagatgt	13	12	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:4874663C>T	ENST00000399583.3	-	4	1178	c.991G>A	c.(991-993)Gag>Aag	p.E331K	RADIL_ENST00000536091.1_Missense_Mutation_p.E331K|RADIL_ENST00000538469.1_Missense_Mutation_p.E91K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	331	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGCCCCACCTCGGAGAAGTTG	0.706																																																	0													12	16	15					7																	4874663		1953	4135	6088	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.991G>A	7.37:g.4874663C>T	ENSP00000382492:p.Glu331Lys		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E331K	ENST00000399583.3	37	c.991	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	-	6.152	0.396202	0.11638	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.22336	3.36;1.96;3.29	4.45	3.57	0.40892	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.292492	0.33670	N	0.004668	T	0.15825	0.0381	L	0.46741	1.465	0.30330	N	0.786761	B	0.24426	0.103	B	0.19666	0.026	T	0.20306	-1.0279	10	0.09843	T	0.71	-15.5362	9.8048	0.40786	0.0:0.9038:0.0:0.0962	.	331	Q96JH8	RADIL_HUMAN	K	331;302;65;331;91	ENSP00000382492:E331K;ENSP00000442533:E331K;ENSP00000442966:E91K	ENSP00000320946:E302K	E	-	1	0	RADIL	4841189	0.001000	0.12720	0.403000	0.26384	0.805000	0.45488	0.472000	0.22116	0.888000	0.36160	0.651000	0.88453	GAG	RADIL	-	superfamily_SMAD_FHA_domain		0.706	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	C	NM_018059		4874663	-1	no_errors	ENST00000399583	ensembl	human	known	70_37	missense	SNP	0.753	T	T	4874663	C	T	4874663	3	4	97	1	0	0	0	0	1	0	0	0	13027	893	31	1	2284	1	RADIL	7	4874663	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	47387	4874663	154264000	231	13955										
TNRC18	84629	genome.wustl.edu	37	chr7	5410013	5410013	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgcgcactctcacctcccatCtcttggctcctcctctccag	5	21	3	0	rs200279443	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:5410013C>G	ENST00000430969.1	-	11	4560	c.4212G>C	c.(4210-4212)gaG>gaC	p.E1404D	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1404D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1404							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CACCTCCCATCTCTTGGCTCC	0.562													C|||	7	0.00139776	8e-04	0.0014	5008	,	,		19366	0.001		0.001	False		,,,				2504	0.0031																0								C	ASP/GLU	3,4169		0,3,2083	34	35	35		4212	1.1	0.5	7		35	16,8192		0,16,4088	yes	missense	TNRC18	NM_001080495.2	45	0,19,6171	GG,GC,CC		0.1949,0.0719,0.1535	benign	1404/2969	5410013	19,12361	2086	4104	6190	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4212G>C	7.37:g.5410013C>G	ENSP00000395538:p.Glu1404Asp		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1404D	ENST00000430969.1	37	c.4212	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074579	0.08485	7.19E-4	0.001949	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.15139	2.46;2.45	4.72	1.13	0.20643	.	0.487974	0.15254	N	0.272151	T	0.15652	0.0377	M	0.66939	2.045	0.28147	N	0.929546	B	0.27351	0.176	B	0.26517	0.07	T	0.16276	-1.0408	10	0.32370	T	0.25	.	4.5874	0.12289	0.0:0.3876:0.3987:0.2137	.	1404	O15417	TNC18_HUMAN	D	1404;1404;459	ENSP00000382452:E1404D;ENSP00000395538:E1404D	ENSP00000382452:E1404D	E	-	3	2	TNRC18	5376539	0.532000	0.26346	0.521000	0.27850	0.268000	0.26511	0.776000	0.26704	0.345000	0.23873	0.313000	0.20887	GAG	TNRC18	-	NULL		0.562	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5410013	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.434	G	G	5410013	C	G	5410013	3	3	97	1	0	0	0	0	1	0	0	0	16369	912	32	1	4774	1	TNRC18	7	5410013	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	535350	5410013	153728650	232	13956										
HDAC9	9734	genome.wustl.edu	37	chr7	18674292	18674292	+	Missense_Mutation	SNP	C	C	T													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccaggctctggtcccagttCaccaaacaatgggccaactg							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:18674292C>T	ENST00000432645.2	+	7	830	c.830C>T	c.(829-831)tCa>tTa	p.S277L	HDAC9_ENST00000428307.2_Missense_Mutation_p.S233L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S236L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S277L|HDAC9_ENST00000406451.4_Missense_Mutation_p.S277L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S200L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S249L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S275L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S264L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S280L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	277	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTCCCAGTTCACCAAACAAT	0.418																																																	0													79	78	78					7																	18674292		1884	4101	5985	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.830C>T	7.37:g.18674292C>T	ENSP00000410337:p.Ser277Leu		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S280L	ENST00000432645.2	37	c.839	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.169406	0.94768	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.71698	-0.58;0.37;-0.09;-0.57;-0.59;-0.59;-0.1;-0.08;0.35;-0.55	5.51	5.51	0.81932	.	0.293302	0.24511	N	0.037896	D	0.86623	0.5977	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.998;0.998;0.999;0.981;0.999;0.999;0.999;0.981;0.999;1.0;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.987;0.991;0.994;0.987;0.987;0.994;0.966;0.994;0.994;0.991;0.966;0.994;0.996;0.987	D	0.88202	0.2884	10	0.87932	D	0	-27.2678	19.415	0.94690	0.0:1.0:0.0:0.0	.	200;249;277;264;275;277;280;236;280;277;249;277;277;255	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	L	275;278;277;277;233;264;236;277;280;249;200;277	ENSP00000401669:S275L;ENSP00000384382:S277L;ENSP00000384657:S277L;ENSP00000395655:S233L;ENSP00000384017:S264L;ENSP00000383912:S236L;ENSP00000410337:S277L;ENSP00000408617:S280L;ENSP00000388568:S249L;ENSP00000430036:S200L	ENSP00000262069:S278L	S	+	2	0	HDAC9	18640817	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.294000	0.78760	2.600000	0.87896	0.650000	0.86243	TCA	HDAC9	-	pirsf_Histone_deAcase_II_euk		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	C			18674292	1	no_errors	ENST00000441542	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18674292	C	T	18674292	3	4	97	1	0	0	0	0	1	0	0	0	7034	838	29	1	865	1	HDAC9	7	18674292	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	13264279	18674292	140464371	233	13957	75	2								
HDAC9	9734	genome.wustl.edu	37	chr7	18674294	18674295	+	Frame_Shift_Ins	INS	-	-	CAAA													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggctctggtcccagttcacINScaaacaatgggccaactgga							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:18674294_18674295insCAAA	ENST00000432645.2	+	7	832_833	c.832_833insCAAA	c.(832-834)ccafs	p.-280fs	HDAC9_ENST00000428307.2_Frame_Shift_Ins_p.-236fs|HDAC9_ENST00000401921.1_Frame_Shift_Ins_p.-239fs|HDAC9_ENST00000405010.3_Frame_Shift_Ins_p.-280fs|HDAC9_ENST00000406451.4_Frame_Shift_Ins_p.-280fs|HDAC9_ENST00000524023.1_Frame_Shift_Ins_p.-203fs|HDAC9_ENST00000456174.2_Frame_Shift_Ins_p.-252fs|HDAC9_ENST00000417496.2_Frame_Shift_Ins_p.-278fs|HDAC9_ENST00000406072.1_Frame_Shift_Ins_p.-267fs|HDAC9_ENST00000441542.2_Frame_Shift_Ins_p.-283fs	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCCAGTTCACCAAACAATGGG	0.416																																																	0																																										SO:0001589	frameshift_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.833_836dupCAAA	7.37:g.18674295_18674298dupCAAA	ENSP00000410337:p.Asn280fs		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.N283fs	ENST00000432645.2	37	c.841_842	CCDS47555.1	7																																																																																			HDAC9	-	pirsf_Histone_deAcase_II_euk		0.416	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-			18674295	1	no_errors	ENST00000441542	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CAAA	CAAA	18674295	-	CAAA	18674294	7	5	97	1	0	1	1	0	0	0	0	0	7034	507	18	0	867	0	HDAC9	7	18674294	Frame_Shift_Ins	INS	-	TCGA-EK-A2PG-01A-11D-A18J-09	2	18674294	140464369	234	13958	75	2								
DNAH11	8701	genome.wustl.edu	37	chr7	21805130	21805130	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tagttaactgcacggctattGactggtttcatgcgtggccg	12	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:21805130G>T	ENST00000409508.3	+	55	9056	c.9025G>T	c.(9025-9027)Gac>Tac	p.D3009Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.D3016Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3016	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACGGCTATTGACTGGTTTCA	0.537									Kartagener syndrome																																								0													115	115	115					7																	21805130		2047	4189	6236	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9025G>T	7.37:g.21805130G>T	ENSP00000475939:p.Asp3009Tyr		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3016Y	ENST00000409508.3	37	c.9046		7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890068	0.91889	.	.	ENSG00000105877	ENST00000328843	T	0.39229	1.09	5.76	5.76	0.90799	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71866	-0.4463	9	0.87932	D	0	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	3016	Q96DT5	DYH11_HUMAN	Y	3016	ENSP00000330671:D3016Y	ENSP00000330671:D3016Y	D	+	1	0	DNAH11	21771655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.399000	0.97285	2.719000	0.93026	0.555000	0.69702	GAC	DNAH11	-	NULL		0.537	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21805130	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21805130	G	T	21805130	3	4	97	1	0	0	0	0	1	0	0	0	4609	1290	45	3	9265	3	DNAH11	7	21805130	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3130836	21805130	137333533	235	13959										
CDCA7L	55536	genome.wustl.edu	37	chr7	21945962	21945962	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttccgcaaatttagcggctGagacagtgaagttctctaga	10	9	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:21945962G>A	ENST00000406877.3	-	6	1145	c.866C>T	c.(865-867)tCa>tTa	p.S289L	CDCA7L_ENST00000373934.4_Missense_Mutation_p.S243L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S255L|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	289					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTAGCGGCTGAGACAGTGAA	0.498																																																	0													82	92	89					7																	21945962		2203	4300	6503	SO:0001583	missense	55536				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.866C>T	7.37:g.21945962G>A	ENSP00000383986:p.Ser289Leu		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.S289L	ENST00000406877.3	37	c.866	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497396	0.85069	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.47528	0.85;0.84;0.86	5.99	5.99	0.97316	.	0.211456	0.42420	D	0.000717	T	0.69115	0.3075	M	0.63428	1.95	0.54753	D	0.999984	B;D;D	0.89917	0.156;0.999;1.0	B;D;D	0.87578	0.034;0.994;0.998	T	0.68262	-0.5455	10	0.66056	D	0.02	-4.9334	20.4777	0.99188	0.0:0.0:1.0:0.0	.	243;289;288	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	L	255;289;243	ENSP00000348523:S255L;ENSP00000383986:S289L;ENSP00000363045:S243L	ENSP00000348523:S255L	S	-	2	0	CDCA7L	21912487	1.000000	0.71417	0.363000	0.25875	0.874000	0.50279	6.778000	0.75043	2.840000	0.97914	0.655000	0.94253	TCA	CDCA7L	-	NULL		0.498	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4	G	NM_018719		21945962	-1	no_errors	ENST00000406877	ensembl	human	known	70_37	missense	SNP	0.985	A	A	21945962	G	A	21945962	3	1	97	1	0	0	0	0	1	0	0	0	3096	1294	45	1	518	1	CDCA7L	7	21945962	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	140832	21945962	137192701	236	13960										
HOXA3	3200	genome.wustl.edu	37	chr7	27150230	27150230	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggtagccaccgtagatcgcCgagctgtcgtagtaggtcgc	15	11	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:27150230C>G	ENST00000396352.4	-	2	229	c.30G>C	c.(28-30)tcG>tcC	p.S10S	HOXA3_ENST00000317201.2_Silent_p.S10S|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	10					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CGTAGATCGCCGAGCTGTCGT	0.607																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													87	64	71					7																	27150230		1995	3990	5985	SO:0001819	synonymous_variant	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.30G>C	7.37:g.27150230C>G			A4D181	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S10	ENST00000396352.4	37	c.30	CCDS5404.1	7																																																																																			HOXA3	-	NULL		0.607	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	C			27150230	-1	no_errors	ENST00000317201	ensembl	human	known	70_37	silent	SNP	0.996	G	G	27150230	C	G	27150230	2	3	97	1	0	0	0	0	0	0	0	1	7313	639	23	2		2	HOXA3	7	27150230	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5204268	27150230	131988433	237	13961										
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31146287	31146287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctggcctccctgctgacaatCtggccacctgagccatgctc	9	17	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:31146287C>G	ENST00000304166.4	+	16	1685	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.L445V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.L522V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.L494V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	466					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCTGACAATCTGGCCACCTG	0.647																																					Ovarian(44;225 1186 2158 11092)												0													114	84	94					7																	31146287		2203	4300	6503	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1396C>G	7.37:g.31146287C>G	ENSP00000306620:p.Leu466Val		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.L466V	ENST00000304166.4	37	c.1396	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401278	0.25291	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.51574	1.08;1.09;0.76;0.7	4.74	3.84	0.44239	.	0.073676	0.64402	D	0.000019	T	0.24353	0.0590	N	0.12887	0.27	0.36000	D	0.837359	B;B;B;B;B	0.12013	0.003;0.0;0.005;0.0;0.0	B;B;B;B;B	0.19148	0.003;0.003;0.024;0.001;0.005	T	0.20505	-1.0273	10	0.02654	T	1	.	10.569	0.45190	0.0:0.9005:0.0:0.0995	.	493;494;522;445;466	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	466;445;494;522	ENSP00000306620:L466V;ENSP00000387335:L445V;ENSP00000379514:L494V;ENSP00000386395:L522V	ENSP00000306620:L466V	L	+	1	2	ADCYAP1R1	31112812	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.297000	0.43593	1.285000	0.44548	0.655000	0.94253	CTG	ADCYAP1R1	-	prints_GPCR_2_PACAP_1_rcpt		0.647	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	C	NM_001118		31146287	1	no_errors	ENST00000304166	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31146287	C	G	31146287	3	3	97	1	0	0	0	0	1	0	0	0	303	912	32	1	1454	1	ADCYAP1R1	7	31146287	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3996057	31146287	127992376	238	13962										
C7orf16	10842	genome.wustl.edu	37	chr7	31736641	31736641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agagacatccaaagggcaaaAtgatccctgttcttcataac	7	10	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:31736641A>G	ENST00000342032.3	+	4	926	c.298A>G	c.(298-300)Atg>Gtg	p.M100V	PPP1R17_ENST00000409146.3_Missense_Mutation_p.M49V|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	100					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										AAAGGGCAAAATGATCCCTGT	0.433																																																	0													113	105	108					7																	31736641		2203	4300	6503	SO:0001583	missense	10842			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.298A>G	7.37:g.31736641A>G	ENSP00000340125:p.Met100Val		B4DE58|Q9UDQ0	Missense_Mutation	SNP	NULL	p.M100V	ENST00000342032.3	37	c.298	CCDS5436.1	7	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.317091	0.01331	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.28069	1.66;1.63	5.36	-0.213	0.13165	.	1.036390	0.07549	N	0.915048	T	0.10078	0.0247	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29610	-1.0006	10	0.02654	T	1	0.0017	2.3073	0.04177	0.5684:0.1176:0.2006:0.1135	.	49;100	B4DE58;O96001	.;PPR17_HUMAN	V	100;49	ENSP00000340125:M100V;ENSP00000386459:M49V	ENSP00000340125:M100V	M	+	1	0	C7orf16	31703166	0.682000	0.27624	0.016000	0.15963	0.900000	0.52787	0.986000	0.29590	-0.194000	0.10399	0.460000	0.39030	ATG	PPP1R17	-	NULL		0.433	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	A	NM_006658		31736641	1	no_errors	ENST00000342032	ensembl	human	known	70_37	missense	SNP	0.001	G	G	31736641	A	G	31736641	3	3	97	1	0	0	0	0	1	0	0	0	2383	101	4	5	308	5	C7orf16	7	31736641	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	590354	31736641	127402022	239	13963										
ELMO1	9844	genome.wustl.edu	37	chr7	37136310	37136310	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacattcatgcttgtcttctCgactactgttctcaagcaca	6	12	4	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:37136310C>G	ENST00000310758.4	-	15	1861	c.1214G>C	c.(1213-1215)cGa>cCa	p.R405P	ELMO1_ENST00000442504.1_Missense_Mutation_p.R405P|ELMO1_ENST00000448602.1_Missense_Mutation_p.R405P|ELMO1_ENST00000341056.3_Missense_Mutation_p.R107P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	405	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTTGTCTTCTCGACTACTGTT	0.403																																																	0													171	137	149					7																	37136310		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1214G>C	7.37:g.37136310C>G	ENSP00000312185:p.Arg405Pro		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R405P	ENST00000310758.4	37	c.1214	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.969099|4.969099	0.92855|0.92855	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	.|T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46	4.96|4.96	4.96|4.96	0.65561|0.65561	.|Engulfment/cell motility, ELMO (2);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.60183|0.60183	0.2249|0.2249	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.66252|0.66252	-0.5970|-0.5970	5|10	.|0.87932	.|D	.|0	.|.	18.6141|18.6141	0.91296|0.91296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|405	.|Q92556	.|ELMO1_HUMAN	Q|P	185|107;405;309;405;405	.|ENSP00000342142:R107P;ENSP00000312185:R405P;ENSP00000406952:R405P;ENSP00000394458:R405P	.|ENSP00000312185:R405P	E|R	-|-	1|2	0|0	ELMO1|ELMO1	37102835|37102835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.748000|7.748000	0.85085|0.85085	2.467000|2.467000	0.83353|0.83353	0.563000|0.563000	0.77884|0.77884	GAG|CGA	ELMO1	-	pfam_Engulfment_cell_motility_ELMO		0.403	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		37136310	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37136310	C	G	37136310	3	3	97	1	0	0	0	0	1	0	0	0	5077	884	31	1	1001	1	ELMO1	7	37136310	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5399669	37136310	122002353	240	13964										
TMED4	222068	genome.wustl.edu	37	chr7	44621746	44621746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcgcctgtggcgcacagcgcGagaagcagcagggcctgccg	17	14	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:44621746G>A	ENST00000457408.2	-	1	112	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Silent_p.L20L|TMED4_ENST00000289577.5_Silent_p.L20L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	20					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGCACAGCGCGAGAAGCAGCA	0.672																																																	0													14	13	14					7																	44621746		2128	4139	6267	SO:0001819	synonymous_variant	222068			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.60C>T	7.37:g.44621746G>A			A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	pfam_GOLD,pfscan_GOLD	p.L20	ENST00000457408.2	37	c.60	CCDS5493.1	7																																																																																			TMED4	-	NULL		0.672	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED4	HGNC	protein_coding	OTTHUMT00000251290.1	G	NM_182547		44621746	-1	no_errors	ENST00000457408	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44621746	G	A	44621746	2	1	97	1	0	0	0	0	0	0	0	1	16036	1045	37	1		1	TMED4	7	44621746	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7485436	44621746	114516917	241	13965										
TNS3	64759	genome.wustl.edu	37	chr7	47323459	47323459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagttcaagtaccacacattGcaggctggaagacaccaagg	11	10	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:47323459G>A	ENST00000398879.1	-	28	4299	c.3933C>T	c.(3931-3933)tgC>tgT	p.C1311C	TNS3_ENST00000355730.3_Silent_p.C1071C|TNS3_ENST00000311160.9_Silent_p.C1311C			Q68CZ2	TENS3_HUMAN	tensin 3	1311					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCACACATTGCAGGCTGGAA	0.552																																																	0													73	76	75					7																	47323459		2100	4240	6340	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3933C>T	7.37:g.47323459G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.C1311	ENST00000398879.1	37	c.3933	CCDS5506.2	7																																																																																			TNS3	-	pfam_PTB,smart_PTyr_interaction_dom		0.552	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47323459	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47323459	G	A	47323459	2	1	97	1	0	0	0	0	0	0	0	1	16374	1311	46	4		4	TNS3	7	47323459	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2701713	47323459	111815204	242	13966										
C7orf65	401335	genome.wustl.edu	37	chr7	47698634	47698634	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agtgaggctggacctgcccaGaattcatgtggaatcaccct	11	11	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:47698634G>A	ENST00000408988.2	+	3	299	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	88										endometrium(1)|lung(2)	3						GACCTGCCCAGAATTCATGTG	0.507																																																	0													105	97	99					7																	47698634		1568	3582	5150	SO:0001819	synonymous_variant	401335				CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.264G>A	7.37:g.47698634G>A			A4D2F8	Silent	SNP	NULL	p.Q88	ENST00000408988.2	37	c.264	CCDS43580.1	7																																																																																			C7orf65	-	NULL		0.507	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf65	HGNC	protein_coding	OTTHUMT00000340616.1	G	NM_001123065		47698634	1	no_errors	ENST00000408988	ensembl	human	putative	70_37	silent	SNP	0.002	A	A	47698634	G	A	47698634	2	1	97	1	0	0	0	0	0	0	0	1	2416	933	33	1		1	C7orf65	7	47698634	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	375175	47698634	111440029	243	13967										
VWC2	375567	genome.wustl.edu	37	chr7	49815707	49815707	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agttccggggcaagacctatCagactttggaggagttcgtg	14	8	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:49815707C>T	ENST00000340652.4	+	2	1232	c.676C>T	c.(676-678)Cag>Tag	p.Q226*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	226	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CAAGACCTATCAGACTTTGGA	0.612																																																	0													16	21	19					7																	49815707		2050	4207	6257	SO:0001587	stop_gained	375567			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.676C>T	7.37:g.49815707C>T	ENSP00000341819:p.Gln226*		Q6UXE2	Nonsense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.Q226*	ENST00000340652.4	37	c.676	CCDS5508.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.117119	0.99340	.	.	ENSG00000188730	ENST00000340652	.	.	.	4.84	4.84	0.62591	.	0.158139	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.3207	0.90237	0.0:1.0:0.0:0.0	.	.	.	.	X	226	.	ENSP00000341819:Q226X	Q	+	1	0	VWC2	49786253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.746000	0.47467	2.383000	0.81215	0.561000	0.74099	CAG	VWC2	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.612	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2	HGNC	protein_coding	OTTHUMT00000251375.2	C	NM_198570		49815707	1	no_errors	ENST00000340652	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49815707	C	T	49815707	4	4	97	1	0	0	0	0	0	1	0	0	17274	827	29	1	678	1	VWC2	7	49815707	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2117073	49815707	109322956	244	13968										
EGFR	1956	genome.wustl.edu	37	chr7	55224461	55224461	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtttgtttcagtgactccttCacacatactcctcctctgga	6	13	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:55224461C>T	ENST00000275493.2	+	10	1320	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	EGFR_ENST00000342916.3_Silent_p.F381F|EGFR_ENST00000442591.1_Silent_p.F381F|EGFR_ENST00000420316.2_Silent_p.F381F|EGFR_ENST00000344576.2_Silent_p.F381F|EGFR_ENST00000455089.1_Silent_p.F336F|EGFR_ENST00000454757.2_Silent_p.F328F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	381					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGACTCCTTCACACATACTC	0.378		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													112	107	108					7																	55224461		2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1143C>T	7.37:g.55224461C>T			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F381	ENST00000275493.2	37	c.1143	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L		0.378	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55224461	1	no_errors	ENST00000275493	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55224461	C	T	55224461	2	4	97	1	0	0	0	0	0	0	0	1	4977	825	29	1		1	EGFR	7	55224461	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5408754	55224461	103914202	245	13969										
ASL	435	genome.wustl.edu	37	chr7	65547435	65547435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acagccaatgagcgccgcctGaaggtacgacccctggagcc	12	15	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:65547435G>A	ENST00000304874.9	+	4	390	c.288G>A	c.(286-288)ctG>ctA	p.L96L	ASL_ENST00000395332.3_Silent_p.L96L|ASL_ENST00000380839.4_Silent_p.L96L|ASL_ENST00000395331.3_Silent_p.L96L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	96					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	AGCGCCGCCTGAAGGTACGAC	0.572																																																	0													55	54	54					7																	65547435		2203	4299	6502	SO:0001819	synonymous_variant	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.288G>A	7.37:g.65547435G>A			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.L96	ENST00000304874.9	37	c.288	CCDS5531.1	7																																																																																			ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase		0.572	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	G	NM_000048		65547435	1	no_errors	ENST00000304874	ensembl	human	known	70_37	silent	SNP	0.997	A	A	65547435	G	A	65547435	2	1	97	1	0	0	0	0	0	0	0	1	1045	1277	45	1		1	ASL	7	65547435	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	10322974	65547435	93591228	246	13970										
MAGI2	9863	genome.wustl.edu	37	chr7	78150813	78150813	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcttcctcctcaggaggctCtatactggctttctccatgt	7	14	4	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:78150813C>G	ENST00000354212.4	-	4	941	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.E230Q|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000522391.1_Missense_Mutation_p.E230Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.E67Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.E62Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	230	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCAGGAGGCTCTATACTGGCT	0.428																																																	0													198	197	197					7																	78150813		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.688G>C	7.37:g.78150813C>G	ENSP00000346151:p.Glu230Gln		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E230Q	ENST00000354212.4	37	c.688	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122264	0.77436	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.42513	0.97;0.97;0.97;3.75;0.97	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);	0.000000	0.33005	U	0.005390	T	0.54565	0.1866	L	0.41824	1.3	0.80722	D	1	P;D;D;P	0.64830	0.935;0.994;0.978;0.682	P;P;D;B	0.63488	0.879;0.891;0.915;0.398	T	0.41662	-0.9496	10	0.29301	T	0.29	.	18.7612	0.91851	0.0:1.0:0.0:0.0	.	67;62;230;230	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	Q	230;230;230;230;62;67	ENSP00000405766:E230Q;ENSP00000346151:E230Q;ENSP00000428389:E230Q;ENSP00000441584:E62Q;ENSP00000441603:E67Q	ENSP00000346151:E230Q	E	-	1	0	MAGI2	77988749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	GAG	MAGI2	-	smart_Guanylate_kin/L-typ_Ca_channel		0.428	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	C	NM_012301		78150813	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78150813	C	G	78150813	3	3	97	1	0	0	0	0	1	0	0	0	9214	922	32	1	3755	1	MAGI2	7	78150813	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	12603378	78150813	80987850	247	13971										
ABCB4	5244	genome.wustl.edu	37	chr7	87104772	87104772	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgttccgttctttgccgcctCaagatccatctcagcctgag	8	14	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:87104772C>G	ENST00000265723.4	-	2	121	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	ABCB4_ENST00000453593.1_Missense_Mutation_p.E4Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.E4Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.E4Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.E4Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	4					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTGCCGCCTCAAGATCCATC	0.657																																																	0													61	57	58					7																	87104772		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.10G>C	7.37:g.87104772C>G	ENSP00000265723:p.Glu4Gln		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E4Q	ENST00000265723.4	37	c.10	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807981	0.50421	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.87179	-2.15;-2.22;-2.19;-2.22;-2.15	3.85	2.94	0.34122	.	.	.	.	.	T	0.77519	0.4142	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.12630	0.006;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.67317	-0.5701	9	0.59425	D	0.04	-0.5201	9.0028	0.36092	0.0:0.7729:0.2271:0.0	.	4;4;4;4	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	Q	4	ENSP00000352135:E4Q;ENSP00000351172:E4Q;ENSP00000265723:E4Q;ENSP00000392983:E4Q;ENSP00000437465:E4Q	ENSP00000265723:E4Q	E	-	1	0	ABCB4	86942708	0.183000	0.23186	0.023000	0.16930	0.881000	0.50899	1.672000	0.37523	0.791000	0.33826	0.637000	0.83480	GAG	ABCB4	-	NULL		0.657	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87104772	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	missense	SNP	0.036	G	G	87104772	C	G	87104772	3	3	97	1	0	0	0	0	1	0	0	0	43	835	29	1	3958	1	ABCB4	7	87104772	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	8953959	87104772	72033891	248	13972										
AKAP9	10142	genome.wustl.edu	37	chr7	91726087	91726087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aacagaaacaactactgaacGaatcccagcaaaaaatagaa	5	9	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:91726087G>A	ENST00000359028.2	+	41	10051	c.9826G>A	c.(9826-9828)Gaa>Aaa	p.E3276K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3222K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3272K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3276					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACTGAACGAATCCCAGCA	0.383			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													65	68	67					7																	91726087		2203	4299	6502	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9826G>A	7.37:g.91726087G>A	ENSP00000351922:p.Glu3276Lys		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E3276K	ENST00000359028.2	37	c.9826		7	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997833	0.54147	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03468	4.01;4.01;4.02;3.92	5.45	4.57	0.56435	.	0.000000	0.43110	D	0.000612	T	0.05090	0.0136	M	0.65975	2.015	0.32390	N	0.553356	P;B;B;B;B	0.40794	0.729;0.035;0.036;0.061;0.061	B;B;B;B;B	0.27796	0.083;0.016;0.007;0.016;0.016	T	0.13098	-1.0522	10	0.41790	T	0.15	.	14.6265	0.68624	0.0706:0.0:0.9294:0.0	.	547;3276;3276;3272;3264	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	K	3272;3276;3222;3276;1118	ENSP00000348573:E3272K;ENSP00000351922:E3276K;ENSP00000350813:E3222K;ENSP00000378042:E1118K	ENSP00000348573:E3272K	E	+	1	0	AKAP9	91564023	1.000000	0.71417	0.886000	0.34754	0.596000	0.36781	4.003000	0.57061	1.432000	0.47375	0.655000	0.94253	GAA	AKAP9	-	NULL		0.383	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		G	NM_005751		91726087	1	no_errors	ENST00000359028	ensembl	human	known	70_37	missense	SNP	0.983	A	A	91726087	G	A	91726087	3	1	97	1	0	0	0	0	1	0	0	0	459	1059	37	1	9976	1	AKAP9	7	91726087	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4621315	91726087	67412576	249	13973										
CASD1	64921	genome.wustl.edu	37	chr7	94166900	94166900	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagctagctgcttgttttttCactttatctattatcggata	6	7	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:94166900C>T	ENST00000297273.4	+	9	1247	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	320						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGTTTTTTCACTTTATCTA	0.373																																																	0													99	105	103					7																	94166900		2203	4300	6503	SO:0001819	synonymous_variant	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.960C>T	7.37:g.94166900C>T			B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.F320	ENST00000297273.4	37	c.960	CCDS5636.1	7																																																																																			CASD1	-	NULL		0.373	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	C	NM_022900		94166900	1	no_errors	ENST00000297273	ensembl	human	known	70_37	silent	SNP	0.681	T	T	94166900	C	T	94166900	2	4	97	1	0	0	0	0	0	0	0	1	2669	825	29	1		1	CASD1	7	94166900	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2440813	94166900	64971763	250	13974										
PON3	5446	genome.wustl.edu	37	chr7	95001495	95001495	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggttttacctttgtcgatGaaaatactgatcccatgtgg	9	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:95001495G>A	ENST00000265627.5	-	4	367	c.357C>T	c.(355-357)ttC>ttT	p.F119F	PON3_ENST00000451904.1_Silent_p.F119F|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.F119F	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	119					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTTTGTCGATGAAAATACTGA	0.388																																																	0													138	133	135					7																	95001495		2203	4299	6502	SO:0001819	synonymous_variant	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.357C>T	7.37:g.95001495G>A			A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.F119	ENST00000265627.5	37	c.357	CCDS5639.1	7																																																																																			PON3	-	NULL		0.388	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	G	NM_000940		95001495	-1	no_errors	ENST00000265627	ensembl	human	known	70_37	silent	SNP	1.000	A	A	95001495	G	A	95001495	2	1	97	1	0	0	0	0	0	0	0	1	12274	1281	45	1		1	PON3	7	95001495	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	834595	95001495	64137168	251	13975										
BHLHA15	168620	genome.wustl.edu	37	chr7	97842040	97842040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catgtccagcagccgcctccCaggcctggaggggccgggcc	15	17	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:97842040C>T	ENST00000609256.1	+	2	545	c.419C>T	c.(418-420)cCa>cTa	p.P140L	BHLHA15_ENST00000314018.2_Missense_Mutation_p.P140L			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	140					calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)										AGCCGCCTCCCAGGCCTGGAG	0.667																																																	0													19	16	17					7																	97842040		2159	4235	6394	SO:0001583	missense	168620			BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"Basic helix-loop-helix proteins"	22265	protein-coding gene	gene with protein product		608606	"basic helix-loop-helix domain containing, class B, 8"	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.419C>T	7.37:g.97842040C>T	ENSP00000476312:p.Pro140Leu		A4D271|Q14DE4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P140L	ENST00000609256.1	37	c.419	CCDS5655.1	7	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474201	0.43942	.	.	ENSG00000180535	ENST00000314018	D	0.94092	-3.35	4.88	3.03	0.35002	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	U	0.000000	D	0.91023	0.7176	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.51135	0.66	D	0.89608	0.3839	10	0.72032	D	0.01	-13.1645	10.7191	0.46030	0.1488:0.7081:0.1431:0.0	.	140	Q7RTS1	BHA15_HUMAN	L	140	ENSP00000326391:P140L	ENSP00000326391:P140L	P	+	2	0	BHLHA15	97679976	1.000000	0.71417	0.521000	0.27850	0.010000	0.07245	5.860000	0.69546	0.458000	0.26988	-0.304000	0.09214	CCA	BHLHA15	-	superfamily_HLH_dom		0.667	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BHLHA15	HGNC	protein_coding	OTTHUMT00000472733.1	C	NM_177455		97842040	1	no_errors	ENST00000314018	ensembl	human	known	70_37	missense	SNP	0.968	T	T	97842040	C	T	97842040	3	4	97	1	0	0	0	0	1	0	0	0	1420	594	21	4	421	4	BHLHA15	7	97842040	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2840545	97842040	61296623	252	13976										
SMURF1	57154	genome.wustl.edu	37	chr7	98638144	98638144	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggaacacagccagccccatGatccgccccacaaagtggaa	9	15	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:98638144G>A	ENST00000361125.1	-	14	1804	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Silent_p.I469I	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	495	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCAGCCCCATGATCCGCCCCA	0.562											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	85	87					7																	98638144		2203	4300	6503	SO:0001819	synonymous_variant	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1485C>T	7.37:g.98638144G>A		1337	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.I495	ENST00000361125.1	37	c.1485	CCDS34690.1	7																																																																																			SMURF1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.562	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	HGNC	protein_coding	OTTHUMT00000335001.2	G	NM_020429		98638144	-1	no_errors	ENST00000361125	ensembl	human	known	70_37	silent	SNP	1.000	A	A	98638144	G	A	98638144	2	1	97	1	0	0	0	0	0	0	0	1	14849	1280	45	1		1	SMURF1	7	98638144	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	796104	98638144	60500519	253	13977										
FBXO24	26261	genome.wustl.edu	37	chr7	100193257	100193257	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtggatgaatttggccgaatCttcatgcaaggaaataacag	11	6	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:100193257C>T	ENST00000241071.6	+	8	1456	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	FBXO24_ENST00000468962.1_Silent_p.I366I|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000427939.2_Silent_p.I416I	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	378					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGGCCGAATCTTCATGCAAG	0.498																																																	0													111	104	107					7																	100193257		2203	4300	6503	SO:0001819	synonymous_variant	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1134C>T	7.37:g.100193257C>T			A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.I416	ENST00000241071.6	37	c.1248	CCDS5698.1	7																																																																																			FBXO24	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.498	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	C			100193257	1	no_errors	ENST00000427939	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100193257	C	T	100193257	2	4	97	1	0	0	0	0	0	0	0	1	5753	903	32	1		1	FBXO24	7	100193257	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1555113	100193257	58945406	254	13978										
TFR2	7036	genome.wustl.edu	37	chr7	100218570	100218570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agcagggctagctgacgccgGaaacggctctcctggaagcc	14	13	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:100218570G>T	ENST00000462107.1	-	19	2603	c.2316C>A	c.(2314-2316)ttC>ttA	p.F772L	TFR2_ENST00000544242.1_Missense_Mutation_p.F313L|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.F772L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	772					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GCTGACGCCGGAAACGGCTCT	0.662																																																	0													27	26	27					7																	100218570		2203	4300	6503	SO:0001583	missense	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2316C>A	7.37:g.100218570G>T	ENSP00000420525:p.Phe772Leu		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.F772L	ENST00000462107.1	37	c.2316	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383551	0.42207	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.55930	0.49;0.49;0.49	5.54	2.48	0.30137	Transferrin receptor-like, dimerisation domain (3);	0.111586	0.64402	D	0.000008	T	0.21801	0.0525	N	0.03281	-0.365	0.80722	D	1	B	0.14805	0.011	B	0.19946	0.027	T	0.03887	-1.0995	10	0.10636	T	0.68	-15.3774	4.5611	0.12161	0.1974:0.0:0.6335:0.1691	.	772	Q9UP52	TFR2_HUMAN	L	772;772;313	ENSP00000223051:F772L;ENSP00000420525:F772L;ENSP00000443656:F313L	ENSP00000223051:F772L	F	-	3	2	TFR2	100056506	0.958000	0.32768	1.000000	0.80357	0.970000	0.65996	1.150000	0.31639	0.802000	0.34089	-0.145000	0.13849	TTC	TFR2	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.662	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	G	NM_003227		100218570	-1	no_errors	ENST00000223051	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100218570	G	T	100218570	3	4	97	1	0	0	0	0	1	0	0	0	15841	1165	41	3	93	3	TFR2	7	100218570	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	25313	100218570	58920093	255	13979										
PSMC2	5701	genome.wustl.edu	37	chr7	102988206	102988206	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cggaagaccaaagaggatgaGaaggacgacaagcccatccg	13	10	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:102988206G>T	ENST00000435765.1	+	2	459	c.48G>T	c.(46-48)gaG>gaT	p.E16D	DNAJC2_ENST00000379263.3_5'Flank|DNAJC2_ENST00000412522.1_5'Flank|PSMC2_ENST00000544811.1_5'UTR|PSMC2_ENST00000292644.3_Missense_Mutation_p.E16D	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	16					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAGAGGATGAGAAGGACGACA	0.582																																																	0													134	115	121					7																	102988206		2203	4300	6503	SO:0001583	missense	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.48G>T	7.37:g.102988206G>T	ENSP00000391211:p.Glu16Asp		A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E16D	ENST00000435765.1	37	c.48	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384952	0.42308	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.94613	-3.47;-3.47	4.34	1.53	0.23141	.	0.051806	0.85682	D	0.000000	D	0.84329	0.5448	N	0.11673	0.155	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71140	-0.4679	10	0.18276	T	0.48	-21.1845	7.7874	0.29099	0.3361:0.0:0.6638:0.0	.	16	P35998	PRS7_HUMAN	D	16	ENSP00000391211:E16D;ENSP00000292644:E16D	ENSP00000292644:E16D	E	+	3	2	PSMC2	102775442	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	1.152000	0.31663	0.210000	0.20664	0.655000	0.94253	GAG	PSMC2	-	NULL		0.582	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	HGNC	protein_coding	OTTHUMT00000347922.1	G	NM_002803		102988206	1	no_errors	ENST00000292644	ensembl	human	known	70_37	missense	SNP	0.998	T	T	102988206	G	T	102988206	3	4	97	1	0	0	0	0	1	0	0	0	12713	933	33	3	50	3	PSMC2	7	102988206	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2769636	102988206	56150457	256	13980										
FLNC	2318	genome.wustl.edu	37	chr7	128488853	128488853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcttctccctcaggaccccGagggtaagcccaagaaggcc	11	15	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:128488853G>A	ENST00000325888.8	+	28	5005	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1582K|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1582					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAGGACCCCGAGGGTAAGCC	0.602																																																	0													94	109	104					7																	128488853		2081	4196	6277	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4744G>A	7.37:g.128488853G>A	ENSP00000327145:p.Glu1582Lys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1582K	ENST00000325888.8	37	c.4744	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.228332	0.95173	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91740	-2.9;-2.9	5.09	5.09	0.68999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	N	0.16478	0.41	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.85130	0.997;0.939	D	0.94306	0.7541	10	0.72032	D	0.01	.	18.8541	0.92244	0.0:0.0:1.0:0.0	.	1582;1582	Q14315-2;Q14315	.;FLNC_HUMAN	K	1582	ENSP00000327145:E1582K;ENSP00000344002:E1582K	ENSP00000327145:E1582K	E	+	1	0	FLNC	128276089	1.000000	0.71417	0.992000	0.48379	0.723000	0.41478	9.810000	0.99221	2.513000	0.84729	0.655000	0.94253	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128488853	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128488853	G	A	128488853	3	1	97	1	0	0	0	0	1	0	0	0	5953	1059	37	1	4854	1	FLNC	7	128488853	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	25500647	128488853	30649810	257	13981										
FLNC	2318	genome.wustl.edu	37	chr7	128492756	128492756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgccagcatccgtgccccctCgggcaacgaggagccctgcc	12	19	0	0	rs200415625		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:128492756C>T	ENST00000325888.8	+	36	6215	c.5954C>T	c.(5953-5955)tCg>tTg	p.S1985L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1952L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1985					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.S1985L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGCCCCCTCGGGCAACGAG	0.657													C|||	1	0.000199681	0	0	5008	,	,		17902	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						C	LEU/SER,LEU/SER	0,4074		0,0,2037	39	44	42		5855,5954	6	0.8	7		42	7,8367		0,7,4180	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	145,145	0,7,6217	TT,TC,CC		0.0836,0.0,0.0562	probably-damaging,probably-damaging	1952/2693,1985/2726	128492756	7,12441	2037	4187	6224	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5954C>T	7.37:g.128492756C>T	ENSP00000327145:p.Ser1985Leu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S1985L	ENST00000325888.8	37	c.5954	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.566254	0.96540	0.0	8.36E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.51325	0.71;0.71	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78672	0.4320	M	0.93763	3.455	0.58432	D	0.999998	P;D	0.89917	0.948;1.0	P;D	0.79784	0.643;0.993	T	0.83066	-0.0145	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	1952;1985	Q14315-2;Q14315	.;FLNC_HUMAN	L	1985;1952	ENSP00000327145:S1985L;ENSP00000344002:S1952L	ENSP00000327145:S1985L	S	+	2	0	FLNC	128279992	1.000000	0.71417	0.798000	0.32154	0.855000	0.48748	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128492756	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128492756	C	T	128492756	3	4	97	1	0	0	0	0	1	0	0	0	5953	893	31	1	6096	1	FLNC	7	128492756	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3903	128492756	30645907	258	13982										
TMEM209	84928	genome.wustl.edu	37	chr7	129832592	129832592	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagaacggtagcgagatctCaatccactgctctccactgg	10	12	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:129832592C>G	ENST00000397622.2	-	6	767	c.645G>C	c.(643-645)ttG>ttC	p.L215F	TMEM209_ENST00000473456.1_Missense_Mutation_p.L215F|TMEM209_ENST00000462753.1_Missense_Mutation_p.L214F|TMEM209_ENST00000336804.8_Missense_Mutation_p.L214F|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	215	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGCGAGATCTCAATCCACTGC	0.453																																																	0													104	106	106					7																	129832592		1904	4127	6031	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.645G>C	7.37:g.129832592C>G	ENSP00000380747:p.Leu215Phe		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.L215F	ENST00000397622.2	37	c.645	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763590	0.49574	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.73598	2.24	0.51767	D	0.999935	D;D	0.58268	0.977;0.982	P;P	0.60473	0.803;0.875	T	0.39418	-0.9615	10	0.32370	T	0.25	-12.4272	14.3345	0.66578	0.0:0.9267:0.0:0.0733	.	215;215	Q96SK2-3;Q96SK2	.;TM209_HUMAN	F	215;214;215;214	ENSP00000380747:L215F;ENSP00000419697:L214F;ENSP00000417258:L215F;ENSP00000338388:L214F	ENSP00000338388:L214F	L	-	3	2	TMEM209	129619828	1.000000	0.71417	0.857000	0.33713	0.260000	0.26232	1.577000	0.36515	2.835000	0.97688	0.591000	0.81541	TTG	TMEM209	-	pfam_Cytochrome_B561-rel		0.453	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	C	NM_032842		129832592	-1	no_errors	ENST00000397622	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129832592	C	G	129832592	3	3	97	1	0	0	0	0	1	0	0	0	16164	825	29	1	1080	1	TMEM209	7	129832592	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1339836	129832592	29306071	259	13983										
CREB3L2	64764	genome.wustl.edu	37	chr7	137567330	137567330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcccgggctggatgactcctCtgggggagaatgttcctcgt	15	11	1	2	rs368005647		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:137567330C>T	ENST00000330387.6	-	11	1666	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	439					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATGACTCCTCTGGGGGAGAA	0.582			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													39	41	40					7																	137567330		2203	4300	6503	SO:0001583	missense	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1315G>A	7.37:g.137567330C>T	ENSP00000329140:p.Glu439Lys		Q6P454|Q6ZMR6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E439K	ENST00000330387.6	37	c.1315	CCDS34760.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.083252	0.94050	.	.	ENSG00000182158	ENST00000330387	T	0.60040	0.22	5.59	5.59	0.84812	.	0.448399	0.24063	N	0.041887	T	0.72293	0.3442	M	0.65498	2.005	0.80722	D	1	D	0.67145	0.996	P	0.62813	0.907	T	0.68484	-0.5396	10	0.30854	T	0.27	-16.5722	17.8366	0.88699	0.0:1.0:0.0:0.0	.	439	Q70SY1	CR3L2_HUMAN	K	439	ENSP00000329140:E439K	ENSP00000329140:E439K	E	-	1	0	CREB3L2	137217870	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.713000	0.61895	2.639000	0.89480	0.555000	0.69702	GAG	CREB3L2	-	NULL		0.582	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	C	NM_194071		137567330	-1	no_errors	ENST00000330387	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137567330	C	T	137567330	3	4	97	1	0	0	0	0	1	0	0	0	3862	922	32	1	255	1	CREB3L2	7	137567330	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7734738	137567330	21571333	260	13984										
EPHB6	2051	genome.wustl.edu	37	chr7	142561388	142561388	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcccctcttatttctgggcaGaggtattgctggacaccacc	10	13	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:142561388G>C	ENST00000392957.2	+	6	887		c.e6-1		EPHB6_ENST00000442129.1_Splice_Site|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTTCTGGGCAGAGGTATTGCT	0.582																																																	0													75	72	73					7																	142561388		2203	4300	6503	SO:0001630	splice_region_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.101-1G>C	7.37:g.142561388G>C			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Splice_Site	SNP	-	e2-1	ENST00000392957.2	37	c.101-1	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185788	0.78789	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7831	0.91942	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB6	142271510	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.654000	0.91092	2.679000	0.91253	0.557000	0.71058	.	EPHB6	-	-		0.582	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G		Intron	142561388	1	no_errors	ENST00000392957	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	142561388	G	C	142561388	5	2	97	1	0	0	0	0	0	0	1	0	5190	956	33	1	106	1	EPHB6	7	142561388	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4994058	142561388	16577275	261	13985										
ZNF467	168544	genome.wustl.edu	37	chr7	149462120	149462120	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctgaagcggcggccgcactGagcgcaggcgaaaggcctgg	18	12	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:149462120G>C	ENST00000302017.3	-	5	1884	c.1471C>G	c.(1471-1473)Cag>Gag	p.Q491E	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGCCGCACTGAGCGCAGGCG	0.741																																																	0													10	11	11					7																	149462120		1844	3682	5526	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1471C>G	7.37:g.149462120G>C	ENSP00000304769:p.Gln491Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q491E	ENST00000302017.3	37	c.1471	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369071	0.11352	.	.	ENSG00000181444	ENST00000302017	T	0.49139	0.79	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31450	U	0.007635	T	0.17365	0.0417	N	0.02420	-0.555	0.25407	N	0.988394	B	0.17268	0.021	B	0.21151	0.033	T	0.28554	-1.0040	10	0.02654	T	1	-24.458	8.1851	0.31335	0.0:0.1695:0.6564:0.1741	.	491	Q7Z7K2	ZN467_HUMAN	E	491	ENSP00000304769:Q491E	ENSP00000304769:Q491E	Q	-	1	0	ZNF467	149093053	0.000000	0.05858	0.984000	0.44739	0.932000	0.56968	-0.835000	0.04386	1.989000	0.58080	0.462000	0.41574	CAG	ZNF467	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.741	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	G	NM_207336		149462120	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.736	C	C	149462120	G	C	149462120	3	2	97	1	0	0	0	0	1	0	0	0	17957	1299	45	1	320	1	ZNF467	7	149462120	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6900732	149462120	9676543	262	13986										
SSPO	23145	genome.wustl.edu	37	chr7	149522126	149522126	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagtggggggttcaggctacGctggagagaggcagaggccc	19	9	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:149522126G>A	ENST00000378016.2	+	0	13913							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTCAGGCTACGCTGGAGAGAG	0.642																																																	0													15	19	18					7																	149522126		1913	4112	6025			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522126G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149522126	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	A	A	149522126	G	A	149522126	1	1	97	0	1	0	0	0	0	0	0	0	15219	1087	38	2		2	SSPO	7	149522126	RNA	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	60006	149522126	9616537	263	13987										
MLL3	58508	genome.wustl.edu	37	chr7	151921207	151921207	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcgcactgtgtgtaattgttCtgccattcacatcttagacc	8	11	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:151921207C>G	ENST00000262189.6	-	20	3434	c.3216G>C	c.(3214-3216)caG>caC	p.Q1072H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q1072H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1072					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTAATTGTTCTGCCATTCAC	0.418																																																	0													23	23	23					7																	151921207		2147	4260	6407	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3216G>C	7.37:g.151921207C>G	ENSP00000262189:p.Gln1072His		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1072H	ENST00000262189.6	37	c.3216	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780506	0.49891	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85773	-2.03;-2.03	5.39	-5.04	0.02964	Zinc finger, FYVE/PHD-type (1);	0.000000	0.44285	D	0.000474	D	0.88869	0.6554	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.996;0.997	D	0.87618	0.2508	10	0.87932	D	0	.	15.4007	0.74838	0.0:0.161:0.0:0.839	.	1072;133	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	1072	ENSP00000262189:Q1072H;ENSP00000347325:Q1072H	ENSP00000262189:Q1072H	Q	-	3	2	MLL3	151552140	0.935000	0.31712	0.924000	0.36721	0.994000	0.84299	0.060000	0.14342	-0.916000	0.03818	-0.157000	0.13467	CAG	MLL3	-	superfamily_Znf_FYVE_PHD		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151921207	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.990	G	G	151921207	C	G	151921207	3	3	97	1	0	0	0	0	1	0	0	0	9645	912	32	1	11679	1	MLL3	7	151921207	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2399081	151921207	7217456	264	13988										
PTPRN2	5799	genome.wustl.edu	37	chr7	157361625	157361625	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgttgagaaccatgtcgatCaggacgtaggtgccgctccg	13	10	1	1	rs144485708		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:157361625C>T	ENST00000389418.4	-	21	2880	c.2871G>A	c.(2869-2871)ctG>ctA	p.L957L	PTPRN2_ENST00000389416.4_Silent_p.L940L|PTPRN2_ENST00000404321.2_Silent_p.L980L|PTPRN2_ENST00000409483.1_Silent_p.L919L|PTPRN2_ENST00000389413.3_Silent_p.L928L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	957	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCATGTCGATCAGGACGTAGG	0.572																																																	0									,,	0,4406		0,0,2203	157	118	131		2871,2820,2784	4.7	1	7	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	957/1016,940/999,928/987	157361625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2871G>A	7.37:g.157361625C>T			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L980	ENST00000389418.4	37	c.2940	CCDS5947.1	7																																																																																			PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.572	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	C			157361625	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	silent	SNP	1.000	T	T	157361625	C	T	157361625	2	4	97	1	0	0	0	0	0	0	0	1	12838	813	29	1		1	PTPRN2	7	157361625	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5440418	157361625	1777038	265	13989										
LPL	4023	genome.wustl.edu	37	chr8	19818550	19818550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggtggagcagtcccggcttCgccattcagaagatcagagt	13	10	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:19818550C>T	ENST00000311322.8	+	8	1748	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	426	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GTCCCGGCTTCGCCATTCAGA	0.423																																																	0													77	76	76					8																	19818550		2203	4300	6503	SO:0001819	synonymous_variant	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1278C>T	8.37:g.19818550C>T			B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.F426	ENST00000311322.8	37	c.1278	CCDS6012.1	8																																																																																			LPL	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,tigrfam_Lipo_Lipase		0.423	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	C			19818550	1	no_errors	ENST00000311322	ensembl	human	known	70_37	silent	SNP	0.000	T	T	19818550	C	T	19818550	2	4	97	1	0	0	0	0	0	0	0	1	8944	883	31	1		1	LPL	8	19818550	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		19818550	126545472	266	13990										
ANK1	286	genome.wustl.edu	37	chr8	41530136	41530136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagagcccaactcggggcccCgcggttcctctgagagtgcc	14	15	1	2	rs538742550		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:41530136C>T	ENST00000347528.4	-	38	4915	c.4832G>A	c.(4831-4833)cGg>cAg	p.R1611Q	ANK1_ENST00000265709.8_Missense_Mutation_p.R1652Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1611Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1611Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R1611Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1611Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1611Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1611	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCGGGGCCCCGCGGTTCCTC	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		19742	0		0	False		,,,				2504	0																0													103	108	106					8																	41530136		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4832G>A	8.37:g.41530136C>T	ENSP00000339620:p.Arg1611Gln		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R1611Q	ENST00000347528.4	37	c.4832	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	3.249	-0.153755	0.06585	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.24	1.48	0.22813	.	0.831600	0.11033	N	0.606980	T	0.09949	0.0244	N	0.02011	-0.69	0.21802	N	0.999538	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.001;0.001	T	0.32771	-0.9894	10	0.02654	T	1	.	9.3263	0.37995	0.0:0.1345:0.0:0.8655	.	1652;1611;1611;1611	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	Q	1611;1611;1611;1611;1611;1611;1652	ENSP00000339620:R1611Q;ENSP00000289734:R1611Q;ENSP00000369082:R1611Q;ENSP00000380149:R1611Q;ENSP00000380147:R1611Q;ENSP00000309131:R1611Q;ENSP00000265709:R1652Q	ENSP00000265709:R1652Q	R	-	2	0	ANK1	41649293	0.228000	0.23718	0.736000	0.30914	0.634000	0.38068	0.148000	0.16224	0.082000	0.17018	0.552000	0.68991	CGG	ANK1	-	NULL		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	C	NM_020475		41530136	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	missense	SNP	0.994	T	T	41530136	C	T	41530136	3	4	97	1	0	0	0	0	1	0	0	0	620	652	23	2	1159	2	ANK1	8	41530136	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	21711586	41530136	104833886	267	13991										
SLC20A2	6575	genome.wustl.edu	37	chr8	42286294	42286294	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accttacagtgcgtggtgctGactggaagcccgatgttgga	14	9	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:42286294G>T	ENST00000342228.3	-	10	2145	c.1776C>A	c.(1774-1776)gtC>gtA	p.V592V	SLC20A2_ENST00000520262.1_Silent_p.V592V|SLC20A2_ENST00000520179.1_Silent_p.V592V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	592					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCGTGGTGCTGACTGGAAGCC	0.652																																																	0													52	42	45					8																	42286294		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1776C>A	8.37:g.42286294G>T				Silent	SNP	pfam_Phos_transporter	p.V592	ENST00000342228.3	37	c.1776	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter		0.652	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	G			42286294	-1	no_errors	ENST00000342228	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42286294	G	T	42286294	2	4	97	1	0	0	0	0	0	0	0	1	14469	1277	45	3		3	SLC20A2	8	42286294	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	756158	42286294	104077728	268	13992										
ASPH	444	genome.wustl.edu	37	chr8	62430629	62430629	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgttgtctcggggaacttttCtagtaaggtacaggttttag	12	5	2	0	rs140478604		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:62430629C>T	ENST00000379454.4	-	23	2141	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ASPH_ENST00000541428.1_Missense_Mutation_p.E623K	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	652					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGGAACTTTTCTAGTAAGGTA	0.403																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	202	200	200		1867,1954	5.7	1	8	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASPH	NM_001164750.1,NM_004318.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	623/730,652/759	62430629	1,13005	2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1954G>A	8.37:g.62430629C>T	ENSP00000368767:p.Glu652Lys		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E652K	ENST00000379454.4	37	c.1954	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880103	0.72294	0.0	1.16E-4	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.43688	0.94;0.94	5.72	5.72	0.89469	.	0.233360	0.42964	D	0.000622	T	0.42562	0.1208	L	0.53729	1.69	0.80722	D	1	B;P	0.45672	0.026;0.864	B;B	0.37833	0.009;0.259	T	0.47774	-0.9091	10	0.66056	D	0.02	-17.2076	19.8804	0.96895	0.0:1.0:0.0:0.0	.	623;652	F5H667;Q12797	.;ASPH_HUMAN	K	623;652	ENSP00000437864:E623K;ENSP00000368767:E652K	ENSP00000368767:E652K	E	-	1	0	ASPH	62593183	1.000000	0.71417	0.986000	0.45419	0.600000	0.36913	7.328000	0.79160	2.684000	0.91462	0.563000	0.77884	GAA	ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62430629	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62430629	C	T	62430629	3	4	97	1	0	0	0	0	1	0	0	0	1054	922	32	1	334	1	ASPH	8	62430629	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	20144335	62430629	83933393	269	13993										
TPD52	7163	genome.wustl.edu	37	chr8	80976814	80976814	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccttcctcagggactgggtCtgttctcagcagacctggtt	11	12	3	1	rs35099105	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:80976814C>G	ENST00000379097.3	-	2	516	c.154G>C	c.(154-156)Gac>Cac	p.D52H	TPD52_ENST00000518937.1_Missense_Mutation_p.D12H|TPD52_ENST00000517427.1_Missense_Mutation_p.D52H|TPD52_ENST00000379096.5_Missense_Mutation_p.D12H|TPD52_ENST00000537855.1_Missense_Mutation_p.D52H|TPD52_ENST00000448733.2_Missense_Mutation_p.D52H|TPD52_ENST00000520527.1_Missense_Mutation_p.D52H|TPD52_ENST00000519303.2_5'UTR	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	52			D -> Y (in dbSNP:rs35099105).		anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGGACTGGGTCTGTTCTCAGC	0.458																																																	0													147	137	140					8																	80976814		2203	4300	6503	SO:0001583	missense	7163			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.154G>C	8.37:g.80976814C>G	ENSP00000368391:p.Asp52His		B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like	p.D52H	ENST00000379097.3	37	c.154	CCDS34912.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.85|19.85	3.903989|3.903989	0.72754|0.72754	.|.	.|.	ENSG00000076554|ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097;ENST00000425513|ENST00000520795	T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.397014|.	0.28694|.	N|.	0.014441|.	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.68593|0.68593	2.085|2.085	0.36385|0.36385	D|D	0.862143|0.862143	D;D;D|.	0.62365|.	0.972;0.991;0.982|.	P;D;D|.	0.65773|.	0.714;0.938;0.926|.	T|T	0.77194|0.77194	-0.2677|-0.2677	10|5	0.87932|.	D|.	0|.	-20.2564|-20.2564	16.1575|16.1575	0.81676|0.81676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	12;12;52|.	P55327-2;E5RKB4;P55327|.	.;.;TPD52_HUMAN|.	H|H	52;12;12;52;52;52;52;52;12|64	ENSP00000438113:D52H;ENSP00000368390:D12H;ENSP00000429915:D12H;ENSP00000429309:D52H;ENSP00000429351:D52H;ENSP00000410222:D52H;ENSP00000368391:D52H|.	ENSP00000368390:D12H|.	D|Q	-|-	1|3	0|2	TPD52|TPD52	81139369|81139369	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.886000|0.886000	0.51366|0.51366	2.876000|2.876000	0.48498|0.48498	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAC|CAG	TPD52	-	pfam_TPD52		0.458	TPD52-006	KNOWN	basic|CCDS	protein_coding	TPD52	HGNC	protein_coding	OTTHUMT00000379539.2	C	NM_005079		80976814	-1	no_errors	ENST00000537855	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80976814	C	G	80976814	3	3	97	1	0	0	0	0	1	0	0	0	16428	913	32	1	617	1	TPD52	8	80976814	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	18546185	80976814	65387208	270	13994										
MMP16	4325	genome.wustl.edu	37	chr8	89068415	89068415	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caccaaatggctgaatcaatAccatgagggggaattccact	9	10	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:89068415A>C	ENST00000286614.6	-	8	1595	c.1314T>G	c.(1312-1314)ggT>ggG	p.G438G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	438					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTGAATCAATACCATGAGGGG	0.423																																																	0													115	109	111					8																	89068415		2203	4300	6503	SO:0001819	synonymous_variant	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1314T>G	8.37:g.89068415A>C			B2RAN7|Q14824|Q52H48	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G438	ENST00000286614.6	37	c.1314	CCDS6246.1	8																																																																																			MMP16	-	superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom		0.423	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	A	NM_005941		89068415	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	silent	SNP	0.995	C	C	89068415	A	C	89068415	2	2	97	1	0	0	0	0	0	0	0	1	9678	378	14	5		5	MMP16	8	89068415	Silent	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	8091601	89068415	57295607	271	13995										
OSR2	116039	genome.wustl.edu	37	chr8	99962942	99962942	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agtgtgggaaaggattttgtCagtctagaactctagcagtt	12	5	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:99962942C>A	ENST00000297565.4	+	3	1211	c.715C>A	c.(715-717)Cag>Aag	p.Q239K	OSR2_ENST00000522510.1_Missense_Mutation_p.Q239K|OSR2_ENST00000435298.2_Missense_Mutation_p.Q239K|OSR2_ENST00000457907.2_Missense_Mutation_p.Q360K|OSR2_ENST00000523368.1_Missense_Mutation_p.Q239K	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	239					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AGGATTTTGTCAGTCTAGAAC	0.363																																																	0													79	77	77					8																	99962942		1858	4092	5950	SO:0001583	missense	116039			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.715C>A	8.37:g.99962942C>A	ENSP00000297565:p.Gln239Lys		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q360K	ENST00000297565.4	37	c.1078	CCDS47901.1	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221346	0.79464	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907	T;T;T;T;T	0.51574	3.23;3.23;0.7;3.23;3.23	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.16862	0.45	0.80722	D	1	D;D;P;P	0.63880	0.972;0.993;0.781;0.944	P;P;B;P	0.62382	0.694;0.901;0.342;0.854	T	0.46470	-0.9189	9	.	.	.	-17.8984	19.3429	0.94350	0.0:1.0:0.0:0.0	.	360;239;239;239	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	K	239;239;239;239;360	ENSP00000430041:Q239K;ENSP00000297565:Q239K;ENSP00000402862:Q239K;ENSP00000430780:Q239K;ENSP00000414657:Q360K	.	Q	+	1	0	OSR2	100032118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.795000	0.96236	0.655000	0.94253	CAG	OSR2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1	C	NM_053001		99962942	1	no_errors	ENST00000457907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99962942	C	A	99962942	3	1	97	1	0	0	0	0	1	0	0	0	11318	827	29	3	721	3	OSR2	8	99962942	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	10894527	99962942	46401080	272	13996										
RIMS2	9699	genome.wustl.edu	37	chr8	104513288	104513288	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagaaggagcagtccgtgctCaagtaaggacctggctccat	13	10	1	1	rs376250352		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:104513288C>A	ENST00000406091.3	+	1	174	c.174C>A	c.(172-174)ctC>ctA	p.L58L	RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	76	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTCCGTGCTCAAGTAAGGAC	0.642										HNSCC(12;0.0054)																																							0													31	37	35					8																	104513288		1984	4140	6124	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.174C>A	8.37:g.104513288C>A			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.L58	ENST00000406091.3	37	c.174	CCDS55269.1	8																																																																																			RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.642	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		C	NM_001100117		104513288	1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	A	A	104513288	C	A	104513288	2	1	97	1	0	0	0	0	0	0	0	1	13398	813	29	3		3	RIMS2	8	104513288	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4550346	104513288	41850734	273	13997										
FER1L6	654463	genome.wustl.edu	37	chr8	124998367	124998367	+	Missense_Mutation	SNP	G	G	C													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcattttttgaagctaccatGattgaccggaagattggaga							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:124998367G>C	ENST00000522917.1	+	12	1676	c.1470G>C	c.(1468-1470)atG>atC	p.M490I	FER1L6_ENST00000399018.1_Missense_Mutation_p.M490I|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	490						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCTACCATGATTGACCGGA	0.358																																																	0													115	107	109					8																	124998367		1817	4072	5889	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1470G>C	8.37:g.124998367G>C	ENSP00000428280:p.Met490Ile			Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.M490I	ENST00000522917.1	37	c.1470	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167079	0.78339	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.91124	-2.79;-2.79	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	D	0.93298	0.7864	M	0.88105	2.93	0.80722	D	1	P	0.48294	0.908	B	0.43950	0.437	D	0.94587	0.7784	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	490	Q2WGJ9	FR1L6_HUMAN	I	490	ENSP00000428280:M490I;ENSP00000381982:M490I	ENSP00000381982:M490I	M	+	3	0	FER1L6	125067548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.747000	0.98863	2.568000	0.86640	0.650000	0.86243	ATG	FER1L6	-	NULL		0.358	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		124998367	1	no_errors	ENST00000399018	ensembl	human	known	70_37	missense	SNP	1.000	C	C	124998367	G	C	124998367	3	2	97	1	0	0	0	0	1	0	0	0	5833	1290	45	1	1512	1	FER1L6	8	124998367	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	20485079	124998367	21365655	274	13998	76	2								
FER1L6	654463	genome.wustl.edu	37	chr8	124998376	124998376	+	Silent	SNP	G	G	A													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagctaccatgattgaccgGaagattggagataaacccat							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:124998376G>A	ENST00000522917.1	+	12	1685	c.1479G>A	c.(1477-1479)cgG>cgA	p.R493R	FER1L6_ENST00000399018.1_Silent_p.R493R|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	493						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATTGACCGGAAGATTGGAG	0.348																																																	0													115	107	109					8																	124998376		1822	4079	5901	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1479G>A	8.37:g.124998376G>A				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R493	ENST00000522917.1	37	c.1479	CCDS43767.1	8																																																																																			FER1L6	-	NULL		0.348	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		124998376	1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	1.000	A	A	124998376	G	A	124998376	2	1	97	1	0	0	0	0	0	0	0	1	5833	1161	41	1		1	FER1L6	8	124998376	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	9	124998376	21365646	275	13999	76	2								
TG	7038	genome.wustl.edu	37	chr8	133899343	133899343	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttctctcctggagcttccaGaattccttctcttcttgcaa	5	14	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:133899343G>C	ENST00000220616.4	+	9	1766	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	TG_ENST00000377869.1_Missense_Mutation_p.E576Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	576					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGCTTCCAGAATTCCTTCT	0.448																																																	0													105	101	103					8																	133899343		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1726G>C	8.37:g.133899343G>C	ENSP00000220616:p.Glu576Gln		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E576Q	ENST00000220616.4	37	c.1726	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276184	0.59649	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.67345	-0.26;-0.25	5.02	3.19	0.36642	.	0.271361	0.31495	N	0.007549	T	0.68641	0.3023	L	0.32530	0.975	0.23473	N	0.9976	D	0.76494	0.999	D	0.64144	0.922	T	0.60214	-0.7307	10	0.87932	D	0	.	9.6979	0.40169	0.0772:0.1414:0.7814:0.0	.	576	P01266	THYG_HUMAN	Q	576	ENSP00000367100:E576Q;ENSP00000220616:E576Q	ENSP00000220616:E576Q	E	+	1	0	TG	133968525	1.000000	0.71417	0.959000	0.39883	0.965000	0.64279	3.682000	0.54656	0.669000	0.31146	0.650000	0.86243	GAA	TG	-	pirsf_Thyroglobulin		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133899343	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.997	C	C	133899343	G	C	133899343	3	2	97	1	0	0	0	0	1	0	0	0	15843	943	33	1	1760	1	TG	8	133899343	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8900967	133899343	12464679	276	14000										
TG	7038	genome.wustl.edu	37	chr8	133925344	133925344	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgcttcacagatctgatccaGagtggctcattccagcttca	8	13	4	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:133925344G>C	ENST00000220616.4	+	20	4252	c.4212G>C	c.(4210-4212)caG>caC	p.Q1404H	TG_ENST00000377869.1_Missense_Mutation_p.Q1404H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1404					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCTGATCCAGAGTGGCTCAT	0.552																																																	0													106	90	96					8																	133925344		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4212G>C	8.37:g.133925344G>C	ENSP00000220616:p.Gln1404His		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Q1404H	ENST00000220616.4	37	c.4212	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768417	0.49680	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.12;-0.11	5.81	-2.82	0.05787	.	0.403256	0.21447	N	0.074393	T	0.52821	0.1758	M	0.68317	2.08	0.26479	N	0.975145	P	0.45283	0.855	B	0.41510	0.359	T	0.53158	-0.8478	10	0.72032	D	0.01	.	6.3278	0.21253	0.3314:0.0:0.5144:0.1542	.	1404	P01266	THYG_HUMAN	H	1404;210;1404	ENSP00000367100:Q1404H;ENSP00000220616:Q1404H	ENSP00000220616:Q1404H	Q	+	3	2	TG	133994526	0.628000	0.27138	0.952000	0.39060	0.468000	0.32798	0.054000	0.14205	-0.400000	0.07656	-0.312000	0.09012	CAG	TG	-	pirsf_Thyroglobulin		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133925344	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.976	C	C	133925344	G	C	133925344	3	2	97	1	0	0	0	0	1	0	0	0	15843	933	33	1	4290	1	TG	8	133925344	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	26001	133925344	12438678	277	14001										
PUF60	22827	genome.wustl.edu	37	chr8	144900399	144900399	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccagcatcaccgagttcatCtgctccaaggccagctgtgc	9	16	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:144900399C>G	ENST00000526683.1	-	7	1122	c.567G>C	c.(565-567)caG>caC	p.Q189H	PUF60_ENST00000313352.7_Missense_Mutation_p.Q129H|PUF60_ENST00000527197.1_Missense_Mutation_p.Q143H|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000349157.6_Missense_Mutation_p.Q172H|PUF60_ENST00000453551.2_Missense_Mutation_p.Q146H|PUF60_ENST00000524570.1_5'UTR|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.Q160H	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	189	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGAGTTCATCTGCTCCAAGG	0.642																																																	0													36	38	37					8																	144900399		2152	4237	6389	SO:0001583	missense	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.567G>C	8.37:g.144900399C>G	ENSP00000434359:p.Gln189His		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.Q189H	ENST00000526683.1	37	c.567	CCDS47934.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.351523|4.351523	0.82132|0.82132	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162|ENST00000532884;ENST00000527744	T;T;T;T;T;T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55465|0.55465	0.1922|0.1922	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31931|.	0.196;0.199;0.347|.	B;B;B|.	0.35353|.	0.127;0.114;0.201|.	T|T	0.51733|0.51733	-0.8668|-0.8668	10|5	0.52906|.	T|.	0.07|.	.|.	17.3535|17.3535	0.87329|0.87329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	160;172;189|.	Q9UHX1-5;Q9UHX1-2;Q9UHX1|.	.;.;PUF60_HUMAN|.	H|T	189;146;129;160;172;143;171;209;209;226|54;187	ENSP00000434359:Q189H;ENSP00000402953:Q146H;ENSP00000322016:Q129H;ENSP00000395417:Q160H;ENSP00000322036:Q172H;ENSP00000431960:Q143H;ENSP00000432610:Q171H;ENSP00000434863:Q209H;ENSP00000437309:Q209H;ENSP00000433403:Q226H|.	ENSP00000322016:Q129H|.	Q|R	-|-	3|2	2|0	PUF60|PUF60	144972387|144972387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.943000|5.943000	0.70211|0.70211	2.343000|2.343000	0.79666|0.79666	0.655000|0.655000	0.94253|0.94253	CAG|AGA	PUF60	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd		0.642	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	C	NM_014281		144900399	-1	no_errors	ENST00000526683	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144900399	C	G	144900399	3	3	97	1	0	0	0	0	1	0	0	0	12854	912	32	1	1136	1	PUF60	8	144900399	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	10975055	144900399	1463623	278	14002										
NRBP2	340371	genome.wustl.edu	37	chr8	144922149	144922149	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagtacttgtgcaacttcacGatgttcgggtggtccaccag	11	11	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:144922149G>A	ENST00000442628.2	-	3	445	c.306C>T	c.(304-306)atC>atT	p.I102I	NRBP2_ENST00000327830.5_5'UTR	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAACTTCACGATGTTCGGGT	0.647																																																	0																																										SO:0001819	synonymous_variant	340371			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.306C>T	8.37:g.144922149G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I102	ENST00000442628.2	37	c.306	CCDS34959.2	8																																																																																			NRBP2	-	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		0.647	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NRBP2	HGNC	protein_coding	OTTHUMT00000382247.1	G	NM_178564		144922149	-1	no_errors	ENST00000442628	ensembl	human	novel	70_37	silent	SNP	0.965	A	A	144922149	G	A	144922149	2	1	97	1	0	0	0	0	0	0	0	1	10667	1048	37	1		1	NRBP2	8	144922149	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	21750	144922149	1441873	279	14003										
GPT	2875	genome.wustl.edu	37	chr8	145730016	145730016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagcctttcaccgaggtcatCcgtgccaacatcggggacgc	11	14	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:145730016C>T	ENST00000528431.1	+	3	349	c.192C>T	c.(190-192)atC>atT	p.I64I	GPT_ENST00000394955.2_Silent_p.I64I			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	64					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCGAGGTCATCCGTGCCAACA	0.662																																																	0													81	77	79					8																	145730016		2203	4300	6503	SO:0001819	synonymous_variant	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.192C>T	8.37:g.145730016C>T			B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.I64	ENST00000528431.1	37	c.192	CCDS6430.1	8																																																																																			GPT	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.662	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1	C			145730016	1	no_errors	ENST00000394955	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145730016	C	T	145730016	2	4	97	1	0	0	0	0	0	0	0	1	6757	845	30	1		1	GPT	8	145730016	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	807867	145730016	634006	280	14004										
JAK2	3717	genome.wustl.edu	37	chr9	5055739	5055739	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcaagcaaaccaagagggttCaaatgaaagccgagttgtaa	11	7	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:5055739C>G	ENST00000381652.3	+	8	1501	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.S187*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.S336*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	336	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAAGAGGGTTCAAATGAAAGC	0.289		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													83	85	85					9																	5055739		2203	4296	6499	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1007C>G	9.37:g.5055739C>G	ENSP00000371067:p.Ser336*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S336*	ENST00000381652.3	37	c.1007	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.762053	0.98474	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.78	5.78	0.91487	.	0.300766	0.37304	N	0.002144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.5249	15.1293	0.72511	0.0:0.9305:0.0:0.0695	.	.	.	.	X	336;336;187	.	ENSP00000371067:S336X	S	+	2	0	JAK2	5045739	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	4.480000	0.60243	2.733000	0.93635	0.655000	0.94253	TCA	JAK2	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.289	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	C			5055739	1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	0.983	G	G	5055739	C	G	5055739	4	3	97	1	0	0	0	0	0	1	0	0	7958	838	29	1	1029	1	JAK2	9	5055739	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		5055739	136157692	281	14005										
PRUNE2	158471	genome.wustl.edu	37	chr9	79318388	79318389	+	Frame_Shift_Ins	INS	-	-	T													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtcatgggtgacagcctgcaINSacgtaactgcatccgggcca					rs376038487|rs11267615	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:79318388_79318389insT	ENST00000376718.3	-	9	8263_8264	c.8140_8141insA	c.(8140-8142)ttgfs	p.L2714fs	PRUNE2_ENST00000428286.1_Frame_Shift_Ins_p.L2355fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2714				Missing (in Ref. 4; BAD93351, 5; AAR15150/AAR15151 and 6; BAA20822). {ECO:0000305}.	apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAGCCTGCAACGTAACTGCA	0.52																																																	0																																										SO:0001589	frameshift_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8140_8141insA	9.37:g.79318388_79318389insT	ENSP00000365908:p.Leu2714fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Ins	INS	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L2355fs	ENST00000376718.3	37	c.7064_7063	CCDS47982.1	9																																																																																			PRUNE2	-	NULL		0.52	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	-	NM_138818		79318389	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	frame_shift_ins	INS	0.010:0.000	T	T	79318389	-	T	79318388	7	5	97	1	0	1	1	0	0	0	0	0	12668	131	5	0	1169	0	PRUNE2	9	79318388	Frame_Shift_Ins	INS	-	TCGA-EK-A2PG-01A-11D-A18J-09	74262649	79318388	61895043	282	14006										
PRUNE2	158471	genome.wustl.edu	37	chr9	79320088	79320088	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atacaggaagtgttcaggctCtctcagtaaatcttcatcga	8	9	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:79320088C>T	ENST00000376718.3	-	8	7225	c.7102G>A	c.(7102-7104)Gag>Aag	p.E2368K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2009K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2368					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTCAGGCTCTCTCAGTAAA	0.473																																																	0													171	163	166					9																	79320088		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7102G>A	9.37:g.79320088C>T	ENSP00000365908:p.Glu2368Lys		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E2009K	ENST00000376718.3	37	c.6025	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581722|3.581722	0.65992|0.65992	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.54866|0.33438	0.55;0.56|1.41	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	T|T	0.40040|0.40040	0.1101|0.1101	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.02901|0.02901	-1.1096|-1.1096	10|6	0.46703|.	T|.	0.11|.	-21.0781|-21.0781	12.8496|12.8496	0.57850|0.57850	0.0:0.9254:0.0:0.0746|0.0:0.9254:0.0:0.0746	.|.	2368|.	Q8WUY3|.	PRUN2_HUMAN|.	K|K	2368;2009;2367|1689	ENSP00000365908:E2368K;ENSP00000397425:E2009K|ENSP00000389706:R1689K	ENSP00000365908:E2368K|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78509908|78509908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.486000|0.486000	0.33341|0.33341	1.670000|1.670000	0.37502|0.37502	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|AGA	PRUNE2	-	NULL		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79320088	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79320088	C	T	79320088	3	4	97	1	0	0	0	0	1	0	0	0	12668	922	32	1	2212	1	PRUNE2	9	79320088	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1700	79320088	61893343	283	14007										
RASEF	158158	genome.wustl.edu	37	chr9	85615963	85615963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcagctttcaggcaggctgtCaacttcacaatttgtcctct	8	12	4	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:85615963C>G	ENST00000376447.3	-	10	1545	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	429					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGCAGGCTGTCAACTTCACAA	0.507																																																	0													74	69	71					9																	85615963		2203	4300	6503	SO:0001583	missense	158158			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1285G>C	9.37:g.85615963C>G	ENSP00000365630:p.Asp429His		A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.D429H	ENST00000376447.3	37	c.1285	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692795	0.88735	.	.	ENSG00000165105	ENST00000376447	T	0.67171	-0.25	5.92	5.92	0.95590	.	0.114577	0.64402	D	0.000019	T	0.80486	0.4632	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.80859	-0.1194	10	0.87932	D	0	.	19.9242	0.97098	0.0:1.0:0.0:0.0	.	429	Q8IZ41	RASEF_HUMAN	H	429	ENSP00000365630:D429H	ENSP00000365630:D429H	D	-	1	0	RASEF	84805783	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.220000	0.65267	2.814000	0.96858	0.585000	0.79938	GAC	RASEF	-	NULL		0.507	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	C	NM_152573		85615963	-1	no_errors	ENST00000376447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85615963	C	G	85615963	3	3	97	1	0	0	0	0	1	0	0	0	13098	826	29	1	969	1	RASEF	9	85615963	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6295875	85615963	55597468	284	14008										
TMOD1	7111	genome.wustl.edu	37	chr9	100328229	100328229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggacacggagtaatgaccccGtggcgtatgtatgtaccttt	12	9	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:100328229G>A	ENST00000259365.4	+	7	931	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TMOD1_ENST00000375175.1_Missense_Mutation_p.V113M|TMOD1_ENST00000395211.2_Missense_Mutation_p.V240M	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	240					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TAATGACCCCGTGGCGTATGT	0.493																																																	0													195	199	198					9																	100328229		2203	4300	6503	SO:0001583	missense	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.718G>A	9.37:g.100328229G>A	ENSP00000259365:p.Val240Met		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	pfam_Tropomodulin	p.V240M	ENST00000259365.4	37	c.718	CCDS6726.1	9	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190929	0.58017	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.92911	-3.13;-3.13;-3.13	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.95642	0.8583	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	P	0.56751	0.805	D	0.95704	0.8752	10	0.51188	T	0.08	-20.6121	17.6093	0.88048	0.0:0.0:1.0:0.0	.	240	P28289	TMOD1_HUMAN	M	240;240;113	ENSP00000378637:V240M;ENSP00000259365:V240M;ENSP00000364318:V113M	ENSP00000259365:V240M	V	+	1	0	TMOD1	99368050	1.000000	0.71417	0.936000	0.37596	0.054000	0.15201	7.483000	0.81158	2.550000	0.86006	0.561000	0.74099	GTG	TMOD1	-	NULL		0.493	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	G	NM_003275		100328229	1	no_errors	ENST00000259365	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100328229	G	A	100328229	3	1	97	1	0	0	0	0	1	0	0	0	16263	1145	40	2	740	2	TMOD1	9	100328229	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	14712266	100328229	40885202	285	14009										
OR13C4	138804	genome.wustl.edu	37	chr9	107288841	107288841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgtagaggatgaacatatagGagaaaaaaatcacgagcaga	11	4	1	4	rs149719513	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:107288841G>T	ENST00000277216.3	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GAACATATAGGAGAAAAAAAT	0.413																																																	0													113	117	116					9																	107288841		2203	4300	6503	SO:0001583	missense	138804				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.650C>A	9.37:g.107288841G>T	ENSP00000277216:p.Ser217Tyr		Q6IF51|Q96R41	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217Y	ENST00000277216.3	37	c.650	CCDS35088.1	9	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956481	0.53293	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.46063	0.88	4.12	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000284	T	0.74733	0.3755	H	0.98612	4.28	0.34228	D	0.676182	D	0.71674	0.998	D	0.74023	0.982	D	0.85457	0.1164	10	0.87932	D	0	.	10.2467	0.43345	0.1015:0.0:0.8985:0.0	.	217	Q8NGS5	O13C4_HUMAN	Y	217;246	ENSP00000277216:S217Y	ENSP00000277216:S217Y	S	-	2	0	OR13C4	106328662	1.000000	0.71417	0.908000	0.35775	0.666000	0.39218	7.672000	0.83956	1.018000	0.39521	0.585000	0.79938	TCC	OR13C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	HGNC	protein_coding	OTTHUMT00000053478.1	G			107288841	-1	no_errors	ENST00000277216	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107288841	G	T	107288841	3	4	97	1	0	0	0	0	1	0	0	0	10960	1174	41	3	308	3	OR13C4	9	107288841	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6960612	107288841	33924590	286	14010										
LRSAM1	90678	genome.wustl.edu	37	chr9	130249962	130249962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtctttctggcagcatggccGaaatggatgaacgattccag	12	9	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:130249962G>A	ENST00000323301.4	+	17	1871	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	LRSAM1_ENST00000373324.4_Missense_Mutation_p.E423K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E423K|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E423K|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	423					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CAGCATGGCCGAAATGGATGA	0.522																																																	0													75	66	69					9																	130249962		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1267G>A	9.37:g.130249962G>A	ENSP00000322937:p.Glu423Lys		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E423K	ENST00000323301.4	37	c.1267	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413343	0.42817	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76186	1.35;-1.0;1.35;1.35	5.34	4.39	0.52855	.	0.273141	0.41396	D	0.000894	T	0.65291	0.2677	L	0.54323	1.7	0.47341	D	0.999399	B;P	0.36837	0.097;0.571	B;B	0.23716	0.011;0.048	T	0.68017	-0.5520	10	0.35671	T	0.21	-7.651	15.1886	0.73025	0.0:0.1547:0.8453:0.0	.	423;423	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	423	ENSP00000300417:E423K;ENSP00000362421:E423K;ENSP00000322937:E423K;ENSP00000362419:E423K	ENSP00000300417:E423K	E	+	1	0	LRSAM1	129289783	0.995000	0.38212	0.983000	0.44433	0.921000	0.55340	2.734000	0.47368	2.501000	0.84356	0.655000	0.94253	GAA	LRSAM1	-	NULL		0.522	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130249962	1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.910	A	A	130249962	G	A	130249962	3	1	97	1	0	0	0	0	1	0	0	0	9066	1059	37	1	1329	1	LRSAM1	9	130249962	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	22961121	130249962	10963469	287	14011										
PRDM12	59335	genome.wustl.edu	37	chr9	133556792	133556792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgcttctgcaaccgccgcttCagccagtcgtccacgctgcg	10	18	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:133556792C>T	ENST00000253008.2	+	5	900	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	280					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACCGCCGCTTCAGCCAGTCGT	0.682																																																	0													12	13	13					9																	133556792		2165	4232	6397	SO:0001819	synonymous_variant	59335			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.840C>T	9.37:g.133556792C>T			A3KFK9	Silent	SNP	pfam_Znf_C2H2,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_SET_dom,pfscan_Znf_C2H2	p.F280	ENST00000253008.2	37	c.840	CCDS6934.1	9																																																																																			PRDM12	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_Znf_C2H2		0.682	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM12	HGNC	protein_coding	OTTHUMT00000054664.1	C	NM_021619		133556792	1	no_errors	ENST00000253008	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133556792	C	T	133556792	2	4	97	1	0	0	0	0	0	0	0	1	12480	825	29	1		1	PRDM12	9	133556792	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3306830	133556792	7656639	288	14012										
REXO4	57109	genome.wustl.edu	37	chr9	136276150	136276150	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccactagaattctgcccttCagcatctctgccacttcctt	4	17	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:136276150C>T	ENST00000371942.3	-	5	1153	c.954G>A	c.(952-954)ctG>ctA	p.L318L	REXO4_ENST00000478037.1_5'Flank|REXO4_ENST00000371935.2_Silent_p.L146L	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	318	Exonuclease.				regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTCTGCCCTTCAGCATCTCTG	0.502																																																	0													191	143	159					9																	136276150		2203	4300	6503	SO:0001819	synonymous_variant	57109			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.954G>A	9.37:g.136276150C>T			B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L318	ENST00000371942.3	37	c.954	CCDS6969.1	9																																																																																			REXO4	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.502	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	HGNC	protein_coding	OTTHUMT00000054899.1	C			136276150	-1	no_errors	ENST00000371942	ensembl	human	known	70_37	silent	SNP	0.981	T	T	136276150	C	T	136276150	2	4	97	1	0	0	0	0	0	0	0	1	13273	813	29	1		1	REXO4	9	136276150	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2719358	136276150	4937281	289	14013										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138710415	138710415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgcttgatgagctcgcgcCgcgccttctcctcctccttc	8	19	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:138710415C>T	ENST00000389532.4	-	13	4071	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1058Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1347Q|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1336					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCTCGCGCCGCGCCTTCTC	0.632																																																	0													62	55	57					9																	138710415		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4007G>A	9.37:g.138710415C>T	ENSP00000374183:p.Arg1336Gln		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R1347Q	ENST00000389532.4	37	c.4040	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	32	5.134924	0.94517	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.33865	1.4;1.51;1.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68640	-0.5355	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1336;1347	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1336;1058;1347	ENSP00000374183:R1336Q;ENSP00000312463:R1058Q;ENSP00000386420:R1347Q	ENSP00000312463:R1058Q	R	-	2	0	CAMSAP1	137850236	1.000000	0.71417	0.270000	0.24601	0.922000	0.55478	5.983000	0.70540	2.386000	0.81285	0.655000	0.94253	CGG	CAMSAP1	-	NULL		0.632	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	C	XM_351857		138710415	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.996	T	T	138710415	C	T	138710415	3	4	97	1	0	0	0	0	1	0	0	0	2616	652	23	2	821	2	CAMSAP1	9	138710415	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2434265	138710415	2503016	290	14014										
SFMBT2	57713	genome.wustl.edu	37	chr10	7218004	7218004	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tctgggcagttttcagatatCagcacaggactaaacaaatt	8	8	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:7218004C>T	ENST00000361972.4	-	17	2022	c.1932G>A	c.(1930-1932)ctG>ctA	p.L644L	SFMBT2_ENST00000397167.1_Silent_p.L644L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	644					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTCAGATATCAGCACAGGAC	0.428																																																	0													193	189	191					10																	7218004		2203	4300	6503	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1932G>A	10.37:g.7218004C>T			A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.L644	ENST00000361972.4	37	c.1932	CCDS31138.1	10																																																																																			SFMBT2	-	pfam_DUF3588		0.428	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	C	NM_001029880		7218004	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	silent	SNP	0.981	T	T	7218004	C	T	7218004	2	4	97	1	0	0	0	0	0	0	0	1	14188	813	29	1		1	SFMBT2	10	7218004	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		7218004	128316743	291	14015										
BEND7	222389	genome.wustl.edu	37	chr10	13538811	13538811	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catggtcttgagttcttgtaGaatggcctgcaacgttgact	11	8	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:13538811G>C	ENST00000396900.2	-	4	525	c.526C>G	c.(526-528)Cta>Gta	p.L176V	BEND7_ENST00000378605.3_Missense_Mutation_p.L137V|BEND7_ENST00000396898.2_Missense_Mutation_p.L189V|BEND7_ENST00000341083.3_Missense_Mutation_p.L124V			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	176						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AGTTCTTGTAGAATGGCCTGC	0.413																																																	0													150	148	149					10																	13538811		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.526C>G	10.37:g.13538811G>C	ENSP00000380108:p.Leu176Val		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.L176V	ENST00000396900.2	37	c.526		10	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707329	0.68615	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65178	-0.14;-0.1;-0.04;-0.02	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	M	0.63843	1.955	0.43632	D	0.996025	D;D	0.71674	0.997;0.998	D;D	0.77557	0.978;0.99	T	0.80460	-0.1373	10	0.87932	D	0	-10.7094	18.2498	0.89998	0.0:0.0:1.0:0.0	.	189;124	E5RFC0;Q8N7W2-3	.;.	V	176;124;189;137	ENSP00000380108:L176V;ENSP00000345773:L124V;ENSP00000380107:L189V;ENSP00000367868:L137V	ENSP00000345773:L124V	L	-	1	2	BEND7	13578817	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.717000	0.68446	2.363000	0.80096	0.555000	0.69702	CTA	BEND7	-	NULL		0.413	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13538811	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13538811	G	C	13538811	3	2	97	1	0	0	0	0	1	0	0	0	1404	933	33	1	1072	1	BEND7	10	13538811	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	6320807	13538811	121995936	292	14016										
FAM171A1	221061	genome.wustl.edu	37	chr10	15254946	15254946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaacgccatcaggggcctctCctcccgtttctgccaggggc	11	16	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:15254946C>T	ENST00000378116.4	-	8	2647	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	881						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGGGGCCTCTCCTCCCGTTTC	0.502																																																	0													129	127	128					10																	15254946		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2641G>A	10.37:g.15254946C>T	ENSP00000367356:p.Glu881Lys		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E881K	ENST00000378116.4	37	c.2641	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821501	0.90873	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.42131	0.98	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71639	-0.4532	10	0.87932	D	0	-33.0221	18.5102	0.90913	0.0:1.0:0.0:0.0	.	881	Q5VUB5	F1711_HUMAN	K	881;880	ENSP00000367356:E881K	ENSP00000367356:E881K	E	-	1	0	FAM171A1	15294952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.627000	0.83176	2.597000	0.87782	0.563000	0.77884	GAG	FAM171A1	-	pfam_Uncharacterised_FAM171		0.502	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15254946	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15254946	C	T	15254946	3	4	97	1	0	0	0	0	1	0	0	0	5505	864	30	1	35	1	FAM171A1	10	15254946	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1716135	15254946	120279801	293	14017										
PTER	9317	genome.wustl.edu	37	chr10	16526443	16526443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttgtagagccaagcaaactGggccgtaccctgacccatga	10	13	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:16526443G>A	ENST00000378000.1	+	3	306	c.60G>A	c.(58-60)ctG>ctA	p.L20L	PTER_ENST00000535784.2_Silent_p.L20L|PTER_ENST00000298942.3_Silent_p.L20L|PTER_ENST00000423462.2_Silent_p.L20L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	20					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CAAGCAAACTGGGCCGTACCC	0.483																																					Ovarian(2;46 150 15648 38137 47908)												0													96	90	92					10																	16526443		2203	4300	6503	SO:0001819	synonymous_variant	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.60G>A	10.37:g.16526443G>A			B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.L20	ENST00000378000.1	37	c.60	CCDS7111.1	10																																																																																			PTER	-	pfam_Aryldialkylphosphatase		0.483	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	G	NM_030664		16526443	1	no_errors	ENST00000298942	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16526443	G	A	16526443	2	1	97	1	0	0	0	0	0	0	0	1	12766	1335	47	4		4	PTER	10	16526443	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1271497	16526443	119008304	294	14018										
MLLT10	8028	genome.wustl.edu	37	chr10	21962686	21962686	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacccaaaggaaacaaaaatCaagagaatgtttctcatctc	6	9	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:21962686C>T	ENST00000307729.7	+	11	1637	c.1459C>T	c.(1459-1461)Caa>Taa	p.Q487*	MLLT10_ENST00000446906.2_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000377072.3_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000377059.3_Nonsense_Mutation_p.Q487*			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	487	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAACAAAAATCAAGAGAATGT	0.403			T	"MLL, PICALM, CDK6"	AL																																			Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0													89	89	89					10																	21962686		2203	4300	6503	SO:0001587	stop_gained	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1459C>T	10.37:g.21962686C>T	ENSP00000307411:p.Gln487*		B1ANA8|Q5JT37|Q5VX90|Q66K63	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q487*	ENST00000307729.7	37	c.1459	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.751304	0.99255	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.	.	.	5.36	5.36	0.76844	.	0.270437	0.38005	N	0.001858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	19.076	0.93161	0.0:1.0:0.0:0.0	.	.	.	.	X	487;487;487;333;487;130;129	.	ENSP00000307411:Q487X	Q	+	1	0	MLLT10	22002692	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.013000	0.70776	2.530000	0.85305	0.585000	0.79938	CAA	MLLT10	-	NULL		0.403	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	C			21962686	1	no_errors	ENST00000307729	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	21962686	C	T	21962686	4	4	97	1	0	0	0	0	0	1	0	0	9649	827	29	1	1497	1	MLLT10	10	21962686	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5436243	21962686	113572061	295	14019										
KIF5B	3799	genome.wustl.edu	37	chr10	32337443	32337443	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacttgctcttgagatgtgcTtgactggaacacccgatcaa	9	11	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:32337443T>G	ENST00000302418.4	-	2	620	c.163A>C	c.(163-165)Agc>Cgc	p.S55R		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	55	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGAGATGTGCTTGACTGGAAC	0.333			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													132	128	129					10																	32337443		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.163A>C	10.37:g.32337443T>G	ENSP00000307078:p.Ser55Arg		A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S55R	ENST00000302418.4	37	c.163	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015120	0.54468	.	.	ENSG00000170759	ENST00000302418	T	0.73047	-0.71	5.61	5.61	0.85477	Kinesin, motor domain (4);	0.275866	0.45606	D	0.000357	T	0.62696	0.2449	L	0.32530	0.975	0.34220	D	0.675319	B	0.26483	0.15	B	0.31442	0.13	T	0.71705	-0.4512	10	0.62326	D	0.03	.	12.336	0.55067	0.0:0.0:0.1409:0.8591	.	55	P33176	KINH_HUMAN	R	55	ENSP00000307078:S55R	ENSP00000307078:S55R	S	-	1	0	KIF5B	32377449	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.162000	0.58177	2.144000	0.66660	0.482000	0.46254	AGC	KIF5B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.333	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	T	NM_004521		32337443	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32337443	T	G	32337443	3	3	97	1	0	0	0	0	1	0	0	0	8326	1609	56	5	2824	5	KIF5B	10	32337443	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	10374757	32337443	103197304	296	14020										
ERCC6	2074	genome.wustl.edu	37	chr10	50732496	50732496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcttgatgtgctttttcaaaCgctcctcttttttggacaga	7	9	3	2	rs150065567		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:50732496C>T	ENST00000355832.5	-	5	1058	c.980G>A	c.(979-981)cGt>cAt	p.R327H	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R327H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R327H|PGBD3_ENST00000603152.1_Missense_Mutation_p.R327H|PGBD3_ENST00000374127.3_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	327					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTTTTCAAACGCTCCTCTTT	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																																									0								C	HIS/ARG	0,4406		0,0,2203	133	129	130		980	4	0.6	10	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC6	NM_000124.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	327/1494	50732496	1,13005	2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.980G>A	10.37:g.50732496C>T	ENSP00000348089:p.Arg327His		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R327H	ENST00000355832.5	37	c.980	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696713	0.68386	0.0	1.16E-4	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.85088	-1.94;3.13;3.13	6.03	4.03	0.46877	.	.	.	.	.	T	0.78188	0.4244	M	0.65975	2.015	0.21147	N	0.999774	P;B	0.40250	0.709;0.149	B;B	0.30251	0.113;0.012	T	0.69064	-0.5244	9	0.33940	T	0.23	-7.7215	5.7679	0.18237	0.1447:0.6428:0.1395:0.0729	.	327;327	E7EV46;Q03468	.;ERCC6_HUMAN	H	327	ENSP00000348089:R327H;ENSP00000423550:R327H;ENSP00000387966:R327H	ENSP00000348089:R327H	R	-	2	0	ERCC6;RP11-123B3.6	50402502	0.996000	0.38824	0.583000	0.28640	0.854000	0.48673	2.926000	0.48892	1.487000	0.48415	0.655000	0.94253	CGT	ERCC6	-	NULL		0.493	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	C	NM_000124		50732496	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	missense	SNP	0.103	T	T	50732496	C	T	50732496	3	4	97	1	0	0	0	0	1	0	0	0	5229	536	19	2	3569	2	ERCC6	10	50732496	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	18395053	50732496	84802251	297	14021										
DNA2	1763	genome.wustl.edu	37	chr10	70204733	70204733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atatttacaagttttctcttCctcaattatttgtggcaaag	5	7	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:70204733C>T	ENST00000358410.3	-	8	1215	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	DNA2_ENST00000399180.2_Missense_Mutation_p.E475K|DNA2_ENST00000399179.2_Missense_Mutation_p.E389K	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	389	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GTTTTCTCTTCCTCAATTATT	0.353																																																	0													104	99	101					10																	70204733		1825	4093	5918	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1165G>A	10.37:g.70204733C>T	ENSP00000351185:p.Glu389Lys		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N	p.E475K	ENST00000358410.3	37	c.1423		10	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315644	0.40996	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93604	-2.76;-3.25;-2.74	5.2	5.2	0.72013	.	0.464626	0.23977	N	0.042708	D	0.89255	0.6663	L	0.36672	1.1	0.37538	D	0.918182	P;B	0.35272	0.493;0.224	B;B	0.30495	0.116;0.034	D	0.88832	0.3306	10	0.23891	T	0.37	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	389;389	F8VR31;P51530	.;DNA2L_HUMAN	K	389;475;389;389	ENSP00000382133:E475K;ENSP00000382132:E389K;ENSP00000351185:E389K	ENSP00000351185:E389K	E	-	1	0	DNA2	69874739	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.481000	0.60250	2.410000	0.81850	0.650000	0.86243	GAA	DNA2	-	NULL		0.353	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	C			70204733	-1	no_errors	ENST00000399180	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70204733	C	T	70204733	3	4	97	1	0	0	0	0	1	0	0	0	4606	864	30	1	2073	1	DNA2	10	70204733	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	19472237	70204733	65330014	298	14022										
DDX50	79009	genome.wustl.edu	37	chr10	70706374	70706374	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agaagtgggggccacaaacgGagttttgactgagtatttga	14	5	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:70706374G>T	ENST00000373585.3	+	15	2309	c.2202G>T	c.(2200-2202)cgG>cgT	p.R734R		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	734						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCCACAAACGGAGTTTTGACT	0.428																																																	0													80	82	81					10																	70706374		2203	4300	6503	SO:0001819	synonymous_variant	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2202G>T	10.37:g.70706374G>T			Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R734	ENST00000373585.3	37	c.2202	CCDS7283.1	10																																																																																			DDX50	-	NULL		0.428	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	G	NM_024045		70706374	1	no_errors	ENST00000373585	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70706374	G	T	70706374	2	4	97	1	0	0	0	0	0	0	0	1	4373	1161	41	3		3	DDX50	10	70706374	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	501641	70706374	64828373	299	14023										
TSPAN15	23555	genome.wustl.edu	37	chr10	71255381	71255381	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgaacgacaacattcgaaGaggaattgagaactactatg	9	8	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:71255381G>C	ENST00000373290.2	+	4	511	c.389G>C	c.(388-390)aGa>aCa	p.R130T	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	130					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						AACATTCGAAGAGGAATTGAG	0.448																																																	0													123	114	117					10																	71255381		2203	4300	6503	SO:0001583	missense	23555			AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"Tetraspanins"	23298	protein-coding gene	gene with protein product		613140	"transmembrane 4 superfamily member 15"	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.389G>C	10.37:g.71255381G>C	ENSP00000362387:p.Arg130Thr		Q6UW79	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.R130T	ENST00000373290.2	37	c.389	CCDS7294.1	10	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235817	0.58886	.	.	ENSG00000099282	ENST00000373290;ENST00000452130	D;D	0.86562	-2.14;-2.14	5.55	3.71	0.42584	Tetraspanin, EC2 domain (1);	0.097141	0.64402	D	0.000001	T	0.75258	0.3825	N	0.13140	0.3	0.44462	D	0.997394	P	0.39424	0.673	B	0.40256	0.324	T	0.68311	-0.5442	10	0.22109	T	0.4	-13.5013	8.9654	0.35874	0.2276:0.0:0.7724:0.0	.	130	O95858	TSN15_HUMAN	T	130;39	ENSP00000362387:R130T;ENSP00000404528:R39T	ENSP00000362387:R130T	R	+	2	0	TSPAN15	70925387	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	5.997000	0.70646	0.715000	0.32103	-0.136000	0.14681	AGA	TSPAN15	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.448	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN15	HGNC	protein_coding	OTTHUMT00000048444.1	G	NM_012339		71255381	1	no_errors	ENST00000373290	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71255381	G	C	71255381	3	2	97	1	0	0	0	0	1	0	0	0	16670	942	33	1	403	1	TSPAN15	10	71255381	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	549007	71255381	64279366	300	14024										
TTC18	118491	genome.wustl.edu	37	chr10	75051773	75051773	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggggctcacggaccaatctCtaagcatcaggagagccaag	12	11	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:75051773C>G	ENST00000310715.3	-	18	2101		c.e18-1		TTC18_ENST00000355577.3_Splice_Site|TTC18_ENST00000394865.1_Splice_Site|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Splice_Site|TTC18_ENST00000493787.1_Splice_Site	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN								extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GGACCAATCTCTAAGCATCAG	0.418																																																	0													141	134	136					10																	75051773		2203	4300	6503	SO:0001630	splice_region_variant	118491																														ENST00000310715.3:c.1981-1G>C	10.37:g.75051773C>G			C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Splice_Site	SNP	-	e17-1	ENST00000310715.3	37	c.1981-1	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587078	0.66105	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1684	0.86822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC18	74721779	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	6.574000	0.74014	2.713000	0.92767	0.655000	0.94253	.	TTC18	-	-		0.418	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		C		Intron	75051773	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	75051773	C	G	75051773	5	3	97	1	0	0	0	0	0	0	1	0	16716	927	32	1	1429	1	TTC18	10	75051773	Splice_Site	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3796392	75051773	60482974	301	14025										
TSPAN14	81619	genome.wustl.edu	37	chr10	82267046	82267046	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcgaccctgtggtgctggtCctgatggtgggcgtggtgat	17	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:82267046C>T	ENST00000429989.3	+	4	418	c.195C>T	c.(193-195)gtC>gtT	p.V65V	TSPAN14_ENST00000341863.6_Silent_p.V65V|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Silent_p.V65V|TSPAN14_ENST00000372156.1_Silent_p.V65V|TSPAN14_ENST00000372164.3_Silent_p.V48V	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	65					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGTGCTGGTCCTGATGGTGG	0.602																																																	0													139	123	128					10																	82267046		2203	4300	6503	SO:0001819	synonymous_variant	81619			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.195C>T	10.37:g.82267046C>T			A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V65	ENST00000429989.3	37	c.195	CCDS7369.1	10																																																																																			TSPAN14	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.602	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	C	NM_030927		82267046	1	no_errors	ENST00000372156	ensembl	human	known	70_37	silent	SNP	1.000	T	T	82267046	C	T	82267046	2	4	97	1	0	0	0	0	0	0	0	1	16669	842	30	1		1	TSPAN14	10	82267046	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7215273	82267046	53267701	302	14026										
EXOC6	54536	genome.wustl.edu	37	chr10	94675644	94675644	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgtattgaaacattcacttGaagaagaggatgagaatgaa	10	4	1	6			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:94675644G>A	ENST00000260762.6	+	7	807	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000443748.2_Missense_Mutation_p.E265K|EXOC6_ENST00000371547.4_Missense_Mutation_p.E281K|EXOC6_ENST00000371552.4_Missense_Mutation_p.E260K	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	265					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ACATTCACTTGAAGAAGAGGA	0.294																																																	0													83	90	87					10																	94675644		2202	4297	6499	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.793G>A	10.37:g.94675644G>A	ENSP00000260762:p.Glu265Lys		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E281K	ENST00000260762.6	37	c.841	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	8.267	0.812396	0.16537	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.32023	1.55;1.55;1.47;1.55	4.72	3.81	0.43845	.	0.187670	0.48286	D	0.000194	T	0.22742	0.0549	L	0.40543	1.245	0.22684	N	0.998859	B;B;B;B;B	0.22541	0.031;0.071;0.002;0.005;0.001	B;B;B;B;B	0.23150	0.044;0.023;0.007;0.007;0.007	T	0.19321	-1.0309	10	0.11182	T	0.66	-13.6457	11.6789	0.51446	0.0838:0.0:0.9162:0.0	.	281;265;257;265;260	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	K	281;260;265;265	ENSP00000360602:E281K;ENSP00000360607:E260K;ENSP00000396206:E265K;ENSP00000260762:E265K	ENSP00000260762:E265K	E	+	1	0	EXOC6	94665624	1.000000	0.71417	0.994000	0.49952	0.323000	0.28346	5.281000	0.65609	1.120000	0.41904	-0.137000	0.14449	GAA	EXOC6	-	pirsf_Sec15		0.294	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94675644	1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94675644	G	A	94675644	3	1	97	1	0	0	0	0	1	0	0	0	5320	1291	45	1	909	1	EXOC6	10	94675644	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	12408598	94675644	40859103	303	14027										
EXOC6	54536	genome.wustl.edu	37	chr10	94675656	94675656	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	attcacttgaagaagaggatGagaatgaagaagaggtgata	13	2	1	8			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:94675656G>T	ENST00000260762.6	+	7	819	c.805G>T	c.(805-807)Gag>Tag	p.E269*	EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000443748.2_Nonsense_Mutation_p.E269*|EXOC6_ENST00000371547.4_Nonsense_Mutation_p.E285*|EXOC6_ENST00000371552.4_Nonsense_Mutation_p.E264*	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	269					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGAAGAGGATGAGAATGAAGA	0.289																																																	0													82	88	86					10																	94675656		2202	4296	6498	SO:0001587	stop_gained	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.805G>T	10.37:g.94675656G>T	ENSP00000260762:p.Glu269*		E9PHI3|Q5VXH8|Q9NZ24	Nonsense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E285*	ENST00000260762.6	37	c.853	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515767	0.85495	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	.	.	.	4.44	4.44	0.53790	.	0.150856	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-12.449	15.628	0.76878	0.0:0.0:1.0:0.0	.	.	.	.	X	285;264;269;269	.	ENSP00000260762:E269X	E	+	1	0	EXOC6	94665636	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.970000	0.76099	2.192000	0.70111	0.655000	0.94253	GAG	EXOC6	-	pirsf_Sec15		0.289	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94675656	1	no_errors	ENST00000371547	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	94675656	G	T	94675656	4	4	97	1	0	0	0	0	0	1	0	0	5320	1291	45	3	921	3	EXOC6	10	94675656	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	12	94675656	40859091	304	14028										
SORBS1	10580	genome.wustl.edu	37	chr10	97158831	97158831	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttaagtcctgagtgctcttCaccacccgcctactgtcatc	6	16	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:97158831C>T	ENST00000361941.3	-	10	1127	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	SORBS1_ENST00000371249.2_Silent_p.V335V|SORBS1_ENST00000371227.4_Silent_p.V367V|SORBS1_ENST00000371247.2_Silent_p.V367V|SORBS1_ENST00000371239.1_Silent_p.V212V|SORBS1_ENST00000277982.5_Silent_p.V367V|SORBS1_ENST00000371241.1_Silent_p.V203V|SORBS1_ENST00000371245.3_Silent_p.V298V|SORBS1_ENST00000607232.1_Silent_p.V202V|SORBS1_ENST00000306402.6_Silent_p.V244V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Silent_p.V367V|SORBS1_ENST00000354106.3_Silent_p.V358V|SORBS1_ENST00000347291.4_Silent_p.V235V|SORBS1_ENST00000393949.1_Silent_p.V358V|SORBS1_ENST00000353505.5_Silent_p.V298V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGTGCTCTTCACCACCCGCC	0.493																																																	0													299	229	253					10																	97158831		2203	4300	6503	SO:0001819	synonymous_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1101G>A	10.37:g.97158831C>T				Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.V367	ENST00000361941.3	37	c.1101	CCDS31255.1	10																																																																																			SORBS1	-	pfam_Sorb,smart_Sorb,pfscan_Sorb		0.493	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97158831	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	silent	SNP	0.001	T	T	97158831	C	T	97158831	2	4	97	1	0	0	0	0	0	0	0	1	14957	813	29	1		1	SORBS1	10	97158831	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2483175	97158831	38375916	305	14029										
SLIT1	6585	genome.wustl.edu	37	chr10	98823227	98823227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccacctgagcagctgaactCactcttctggacctctgcca	7	17	4	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:98823227C>T	ENST00000266058.4	-	8	1023	c.778G>A	c.(778-780)Gag>Aag	p.E260K	SLIT1_ENST00000371041.3_Missense_Mutation_p.E260K|SLIT1_ENST00000371070.4_Missense_Mutation_p.E260K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	260	LRRCT 1.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGCTGAACTCACTCTTCTGG	0.637																																																	0													27	29	29					10																	98823227		2203	4298	6501	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.778G>A	10.37:g.98823227C>T	ENSP00000266058:p.Glu260Lys		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E260K	ENST00000266058.4	37	c.778	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042384	0.93685	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.13	4.13	0.48395	Cysteine-rich flanking region, C-terminal (2);	0.057241	0.64402	D	0.000002	D	0.89269	0.6667	M	0.71296	2.17	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.61477	0.889;0.672	D	0.90817	0.4706	10	0.66056	D	0.02	.	16.5707	0.84612	0.0:1.0:0.0:0.0	.	260;260	E7EWQ8;O75093	.;SLIT1_HUMAN	K	260;260;236;260;243;236;260	ENSP00000266058:E260K;ENSP00000360109:E260K;ENSP00000315005:E243K;ENSP00000360080:E260K	ENSP00000266058:E260K	E	-	1	0	SLIT1	98813217	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.644000	0.83416	2.122000	0.65172	0.549000	0.68633	GAG	SLIT1	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C		0.637	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	C	NM_003061		98823227	-1	no_errors	ENST00000266058	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98823227	C	T	98823227	3	4	97	1	0	0	0	0	1	0	0	0	14769	835	29	1	3946	1	SLIT1	10	98823227	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1664396	98823227	36711520	306	14030										
MMS19	64210	genome.wustl.edu	37	chr10	99228834	99228834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggccgccaggccctctgcctCcacccgctcacttgccgtct	9	21	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:99228834C>T	ENST00000438925.2	-	12	1287	c.952G>A	c.(952-954)Gag>Aag	p.E318K	MMS19_ENST00000370782.2_Missense_Mutation_p.E318K|MMS19_ENST00000327238.10_Intron|MMS19_ENST00000483626.1_5'Flank|MMS19_ENST00000355839.6_Missense_Mutation_p.E275K|MMS19_ENST00000327277.7_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	318					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CCCTCTGCCTCCACCCGCTCA	0.602								Direct reversal of damage																																									0													25	23	23					10																	99228834		2201	4292	6493	SO:0001583	missense	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.952G>A	10.37:g.99228834C>T	ENSP00000412698:p.Glu318Lys		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.E318K	ENST00000438925.2	37	c.952	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.252632	0.95336	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000422291;ENST00000355839	T;T;T	0.62232	0.04;0.04;0.04	4.99	4.08	0.47627	Armadillo-like helical (1);Armadillo-type fold (1);	0.048107	0.85682	N	0.000000	T	0.73179	0.3554	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.954;0.982	T	0.71497	-0.4575	10	0.07990	T	0.79	.	13.3732	0.60725	0.0:0.9237:0.0:0.0763	.	339;318;275	B4DQX2;Q96T76;B4E2I3	.;MMS19_HUMAN;.	K	318;318;297;275	ENSP00000412698:E318K;ENSP00000359818:E318K;ENSP00000348097:E275K	ENSP00000348097:E275K	E	-	1	0	MMS19	99218824	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.562000	0.82300	1.325000	0.45301	0.462000	0.41574	GAG	MMS19	-	superfamily_ARM-type_fold		0.602	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	C			99228834	-1	no_errors	ENST00000370782	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99228834	C	T	99228834	3	4	97	1	0	0	0	0	1	0	0	0	9695	864	30	1	2220	1	MMS19	10	99228834	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	405607	99228834	36305913	307	14031										
CNNM1	26507	genome.wustl.edu	37	chr10	101090702	101090702	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccgactggacacggttctgGaggagtttaagaagggtgag	16	7	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:101090702G>C	ENST00000356713.4	+	1	1847	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	CNNM1_ENST00000446890.1_Missense_Mutation_p.E449Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.E155Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.E449Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	520	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CACGGTTCTGGAGGAGTTTAA	0.547																																																	0													51	53	52					10																	101090702		2203	4300	6503	SO:0001583	missense	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1558G>C	10.37:g.101090702G>C	ENSP00000349147:p.Glu520Gln		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.E520Q	ENST00000356713.4	37	c.1558	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639814	0.47153	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.54	4.54	0.55810	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.95404	0.8508	L	0.33668	1.02	0.80722	D	1	D;D;P;P	0.76494	0.971;0.999;0.707;0.82	P;D;P;P	0.87578	0.832;0.998;0.897;0.564	D	0.96073	0.9047	10	0.62326	D	0.03	-28.919	17.4633	0.87625	0.0:0.0:1.0:0.0	.	155;520;155;520	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	Q	520;449;449;155	ENSP00000349147:E520Q;ENSP00000406492:E449Q;ENSP00000359559:E449Q;ENSP00000359565:E155Q	ENSP00000349147:E520Q	E	+	1	0	CNNM1	101080692	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.651000	0.98493	2.348000	0.79779	0.462000	0.41574	GAG	CNNM1	-	pfam_Cysta_beta_synth_core		0.547	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	G	NM_020348		101090702	1	no_errors	ENST00000356713	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101090702	G	C	101090702	3	2	97	1	0	0	0	0	1	0	0	0	3617	1175	41	1	1560	1	CNNM1	10	101090702	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1861868	101090702	34444045	308	14032										
ERLIN1	10613	genome.wustl.edu	37	chr10	101923794	101923794	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttcctctctgtctcagcttCtttttccacaaccttttgtt	3	13	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:101923794C>A	ENST00000421367.2	-	8	3329	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	ERLIN1_ENST00000407654.3_Nonsense_Mutation_p.E208*	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	206					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCTCAGCTTCTTTTTCCACA	0.368																																																	0													270	235	247					10																	101923794		2203	4300	6503	SO:0001587	stop_gained	10613			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.622G>T	10.37:g.101923794C>A	ENSP00000410964:p.Glu208*		B0QZ42|Q53HV0	Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E208*	ENST00000421367.2	37	c.622	CCDS7487.2	10	.	.	.	.	.	.	.	.	.	.	C	36	5.667280	0.96745	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410;ENST00000370408	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.2437	16.8964	0.86101	0.0:1.0:0.0:0.0	.	.	.	.	X	208;208;124;208	.	ENSP00000359436:E208X	E	-	1	0	ERLIN1	101913784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.365000	0.73090	2.649000	0.89929	0.563000	0.77884	GAA	ERLIN1	-	pfam_Band_7		0.368	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN1	HGNC	protein_coding	OTTHUMT00000049840.2	C	NM_006459		101923794	-1	no_errors	ENST00000407654	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	101923794	C	A	101923794	4	1	97	1	0	0	0	0	0	1	0	0	5244	922	32	3	440	3	ERLIN1	10	101923794	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	833092	101923794	33610953	309	14033										
NFKB2	4791	genome.wustl.edu	37	chr10	104159337	104159337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccctctgtggcccgtagctcGagagtacaacgcgcgcctgt	12	15	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:104159337G>A	ENST00000369966.3	+	14	1581	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	NFKB2_ENST00000428099.1_Missense_Mutation_p.R444Q|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Missense_Mutation_p.R444Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	444					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCCGTAGCTCGAGAGTACAAC	0.736			T	IGH@	B-NHL																																			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													6	8	7					10																	104159337		1797	3885	5682	SO:0001583	missense	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1331G>A	10.37:g.104159337G>A	ENSP00000358983:p.Arg444Gln		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.R444Q	ENST00000369966.3	37	c.1331	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391014	0.42410	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.15834	2.39;2.39;2.39	4.83	3.93	0.45458	.	0.497718	0.20095	N	0.099342	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	P;P	0.48089	0.905;0.905	B;B	0.32533	0.147;0.147	T	0.21793	-1.0235	10	0.15952	T	0.53	.	7.3375	0.26617	0.1932:0.0:0.8068:0.0	.	444;444	Q00653;A8K9D9	NFKB2_HUMAN;.	Q	444	ENSP00000410256:R444Q;ENSP00000358983:R444Q;ENSP00000189444:R444Q	ENSP00000189444:R444Q	R	+	2	0	NFKB2	104149327	0.842000	0.29525	0.890000	0.34922	0.420000	0.31355	1.709000	0.37909	1.279000	0.44446	0.511000	0.50034	CGA	NFKB2	-	NULL		0.736	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	G			104159337	1	no_errors	ENST00000369966	ensembl	human	known	70_37	missense	SNP	0.131	A	A	104159337	G	A	104159337	3	1	97	1	0	0	0	0	1	0	0	0	10400	1058	37	1	1381	1	NFKB2	10	104159337	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2235543	104159337	31375410	310	14034										
TAF5	6877	genome.wustl.edu	37	chr10	105141483	105141483	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccttttattggcagggtctCactgcagtggatgtcactga	11	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:105141483C>T	ENST00000369839.3	+	6	1442	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	TAF5_ENST00000351396.4_Silent_p.L473L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	473					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGCAGGGTCTCACTGCAGTGG	0.383																																																	0													127	121	123					10																	105141483		2203	4300	6503	SO:0001819	synonymous_variant	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1419C>T	10.37:g.105141483C>T			A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L473	ENST00000369839.3	37	c.1419	CCDS7547.1	10																																																																																			TAF5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.383	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	C			105141483	1	no_errors	ENST00000369839	ensembl	human	known	70_37	silent	SNP	0.964	T	T	105141483	C	T	105141483	2	4	97	1	0	0	0	0	0	0	0	1	15558	813	29	1		1	TAF5	10	105141483	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	982146	105141483	30393264	311	14035										
SORCS3	22986	genome.wustl.edu	37	chr10	106927067	106927067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tagactggggtggtgccctcGtggccatgaaacacacacct	12	12	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:106927067G>A	ENST00000369701.3	+	13	2088	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	621					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTGCCCTCGTGGCCATGAA	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)												0													142	122	129					10																	106927067		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1861G>A	10.37:g.106927067G>A	ENSP00000358715:p.Val621Met		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V621M	ENST00000369701.3	37	c.1861	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306628	0.81247	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.39592	1.07;1.07	5.76	5.76	0.90799	VPS10 (1);	0.138580	0.50627	D	0.000115	T	0.69450	0.3112	M	0.83312	2.635	0.58432	D	0.999996	D	0.89917	1.0	D	0.75484	0.986	T	0.70472	-0.4862	9	.	.	.	.	19.9571	0.97224	0.0:0.0:1.0:0.0	.	621	Q9UPU3	SORC3_HUMAN	M	621;66	ENSP00000358715:V621M;ENSP00000376876:V66M	.	V	+	1	0	SORCS3	106917057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.303000	0.65738	2.721000	0.93114	0.655000	0.94253	GTG	SORCS3	-	smart_VPS10		0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	G	NM_014978		106927067	1	no_errors	ENST00000369701	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106927067	G	A	106927067	3	1	97	1	0	0	0	0	1	0	0	0	14962	1145	40	2	1911	2	SORCS3	10	106927067	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1785584	106927067	28607680	312	14036										
AFAP1L2	84632	genome.wustl.edu	37	chr10	116064526	116064526	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggaggatgcggaaggagtaGaggtggtcggggctggggtc	23	4	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:116064526G>A	ENST00000304129.4	-	11	1265	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	AFAP1L2_ENST00000369271.3_Silent_p.L412L|AFAP1L2_ENST00000545353.1_Silent_p.L465L|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	412	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGAAGGAGTAGAGGTGGTCGG	0.687																																																	0													38	37	37					10																	116064526		2202	4300	6502	SO:0001819	synonymous_variant	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1236C>T	10.37:g.116064526G>A			A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L465	ENST00000304129.4	37	c.1395	CCDS31286.1	10																																																																																			AFAP1L2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.687	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	G	NM_032550		116064526	-1	no_errors	ENST00000545353	ensembl	human	known	70_37	silent	SNP	0.988	A	A	116064526	G	A	116064526	2	1	97	1	0	0	0	0	0	0	0	1	355	929	33	1		1	AFAP1L2	10	116064526	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	9137459	116064526	19470221	313	14037										
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119805356	119805356	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgtttgtcctcaaagatgtCattgagattgattgccacct	8	8	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:119805356C>A	ENST00000355624.3	-	1	758	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454781.1_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.D107Y|CASC2_ENST00000414722.1_RNA|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000435944.1_RNA|CASC2_ENST00000454857.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	107					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCAAAGATGTCATTGAGATTG	0.358																																																	0													59	59	59					10																	119805356		2203	4300	6503	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.319G>T	10.37:g.119805356C>A	ENSP00000347839:p.Asp107Tyr		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D107Y	ENST00000355624.3	37	c.319	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747645	0.69533	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.72942	-0.7;-0.7	4.98	4.98	0.66077	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.328711	0.36482	N	0.002570	T	0.73682	0.3618	L	0.55481	1.735	0.44366	D	0.997265	P;D	0.54397	0.932;0.966	P;P	0.52554	0.492;0.702	T	0.76822	-0.2817	10	0.87932	D	0	-14.5486	12.0493	0.53498	0.0:0.9208:0.0:0.0792	.	107;107	Q3I768;Q7L804	.;RFIP2_HUMAN	Y	107	ENSP00000347839:D107Y;ENSP00000358200:D107Y	ENSP00000347839:D107Y	D	-	1	0	RAB11FIP2	119795346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	2.469000	0.83416	0.655000	0.94253	GAC	RAB11FIP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.358	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119805356	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119805356	C	A	119805356	3	1	97	1	0	0	0	0	1	0	0	0	12924	826	29	3	1239	3	RAB11FIP2	10	119805356	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3740830	119805356	15729391	314	14038										
C10orf90	118611	genome.wustl.edu	37	chr10	128193393	128193393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcccccacagggtctctcctCtttgggcggcagctctgcct	11	17	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:128193393C>G	ENST00000284694.7	-	3	496	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	C10orf90_ENST00000454341.1_Missense_Mutation_p.E126Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.E79Q|C10orf90_ENST00000544758.1_Missense_Mutation_p.E223Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.E79Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	126	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGTCTCTCCTCTTTGGGCGGC	0.647											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42	41	41					10																	128193393		2201	4298	6499	SO:0001583	missense	118611			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.376G>C	10.37:g.128193393C>G	ENSP00000284694:p.Glu126Gln	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.E223Q	ENST00000284694.7	37	c.667	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669020	0.67814	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.29917	1.86;1.84;1.89;1.87;1.55	4.87	4.87	0.63330	.	0.354519	0.24249	N	0.040186	T	0.46092	0.1375	L	0.56769	1.78	0.09310	N	1	D;D;D;D;P	0.76494	0.998;0.998;0.999;0.993;0.899	P;P;D;P;P	0.64877	0.898;0.898;0.93;0.835;0.571	T	0.29792	-1.0000	10	0.41790	T	0.15	-8.369	10.3484	0.43920	0.0:0.9105:0.0:0.0895	.	223;223;79;126;126	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	Q	79;126;126;223;126;79;79	ENSP00000284694:E126Q;ENSP00000398786:E126Q;ENSP00000444369:E223Q;ENSP00000405995:E126Q;ENSP00000376459:E79Q	ENSP00000284694:E126Q	E	-	1	0	C10orf90	128183383	0.000000	0.05858	0.005000	0.12908	0.176000	0.22953	0.092000	0.15066	2.524000	0.85096	0.561000	0.74099	GAG	C10orf90	-	NULL		0.647	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		C	NM_001004298		128193393	-1	no_errors	ENST00000544758	ensembl	human	known	70_37	missense	SNP	0.006	G	G	128193393	C	G	128193393	3	3	97	1	0	0	0	0	1	0	0	0	1627	922	32	1	1751	1	C10orf90	10	128193393	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	8388037	128193393	7341354	315	14039										
MKI67	4288	genome.wustl.edu	37	chr10	129906554	129906554	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaatgctttaatgtctttctCatcacctcctgctggtttgg	7	10	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:129906554C>A	ENST00000368654.3	-	13	3925	c.3550G>T	c.(3550-3552)Gag>Tag	p.E1184*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E824*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1184	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1184K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTTTCTCATCACCTCCT	0.463																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											255	242	246					10																	129906554		2203	4300	6503	SO:0001587	stop_gained	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3550G>T	10.37:g.129906554C>A	ENSP00000357643:p.Glu1184*		Q5VWH2	Nonsense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1184*	ENST00000368654.3	37	c.3550	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.261741	0.99118	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	2.15	2.15	0.27550	.	1.442700	0.04752	N	0.424659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	7.6841	0.28530	0.0:0.6108:0.3892:0.0	.	.	.	.	X	1184;824;1183	.	ENSP00000357642:E824X	E	-	1	0	MKI67	129796544	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.165000	0.09968	1.538000	0.49270	0.462000	0.41574	GAG	MKI67	-	pfam_K167R		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129906554	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	129906554	C	A	129906554	4	1	97	1	0	0	0	0	0	1	0	0	9621	835	29	3	6232	3	MKI67	10	129906554	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1713161	129906554	5628193	316	14040										
GPR123	84435	genome.wustl.edu	37	chr10	134942343	134942343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttgacgccaacggggccgcGctgggccgcgccgcctgcct	15	18	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:134942343G>A	ENST00000392607.3	+	7	1447	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	GPR123_ENST00000607359.1_Silent_p.A1056A|GPR123_ENST00000392606.2_Silent_p.A240A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	337					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACGGGGCCGCGCTGGGCCGCG	0.746																																																	0													7	8	8					10																	134942343		2001	3911	5912	SO:0001819	synonymous_variant	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1011G>A	10.37:g.134942343G>A			A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.A241	ENST00000392607.3	37	c.723	CCDS41580.1	10																																																																																			GPR123	-	NULL		0.746	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	G			134942343	1	no_errors	ENST00000392606	ensembl	human	putative	70_37	silent	SNP	0.053	A	A	134942343	G	A	134942343	2	1	97	1	0	0	0	0	0	0	0	1	6656	1074	38	2		2	GPR123	10	134942343	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5035789	134942343	592404	317	14041										
TSSC4	10078	genome.wustl.edu	37	chr11	2424430	2424430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctggccttcctgggctcccaGagcctggctgcccccactga	11	18	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:2424430G>C	ENST00000333256.6	+	3	1010	c.567G>C	c.(565-567)caG>caC	p.Q189H	TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.Q189H|TSSC4_ENST00000380996.5_Missense_Mutation_p.Q125H|TSSC4_ENST00000380992.1_Intron|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	189										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCTCCCAGAGCCTGGCTG	0.647																																																	0													34	33	33					11																	2424430		2202	4296	6498	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.567G>C	11.37:g.2424430G>C	ENSP00000331087:p.Gln189His		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.Q189H	ENST00000333256.6	37	c.567	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847027	0.17034	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;1.48;0.87	3.67	-0.883	0.10600	.	1.673700	0.03362	N	0.197726	T	0.42063	0.1186	L	0.54323	1.7	0.09310	N	1	P;P	0.47677	0.899;0.899	P;P	0.44990	0.466;0.466	T	0.35450	-0.9788	10	0.41790	T	0.15	-2.5056	6.1827	0.20480	0.1909:0.4428:0.3662:0.0	.	189;125	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	H	125;189;189;125;189;189	ENSP00000370384:Q125H;ENSP00000331087:Q189H;ENSP00000396925:Q189H;ENSP00000416937:Q125H;ENSP00000435013:Q189H;ENSP00000411224:Q189H	ENSP00000331087:Q189H	Q	+	3	2	TSSC4	2381006	0.742000	0.28228	0.001000	0.08648	0.182000	0.23217	0.646000	0.24797	-0.257000	0.09459	-0.371000	0.07208	CAG	TSSC4	-	NULL		0.647	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424430	1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.001	C	C	2424430	G	C	2424430	3	2	97	1	0	0	0	0	1	0	0	0	16698	933	33	1	569	1	TSSC4	11	2424430	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		2424430	132582086	318	14042										
OR10A5	144124	genome.wustl.edu	37	chr11	6867763	6867763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tatcctacactgttgtgactCccatgttgaaccccattatc	5	13	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:6867763C>T	ENST00000299454.4	+	1	881	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	OR10A5_ENST00000379831.2_Missense_Mutation_p.P288S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	284					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTTGTGACTCCCATGTTGAA	0.433																																					Pancreas(44;21 1072 25662 28041 45559)												0													127	129	128					11																	6867763		2201	4296	6497	SO:0001583	missense	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.850C>T	11.37:g.6867763C>T	ENSP00000299454:p.Pro284Ser		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P288S	ENST00000299454.4	37	c.862	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	16.73	3.203259	0.58234	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00330	8.08;8.08	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00695	0.0023	M	0.91972	3.26	0.43657	D	0.996074	P	0.49783	0.928	P	0.51999	0.687	T	0.66388	-0.5936	10	0.56958	D	0.05	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	284	Q9H207	O10A5_HUMAN	S	284;288	ENSP00000299454:P284S;ENSP00000369159:P288S	ENSP00000299454:P284S	P	+	1	0	OR10A5	6824339	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.563000	0.67352	2.269000	0.75478	0.591000	0.81541	CCC	OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	C	NM_178168		6867763	1	no_errors	ENST00000379831	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6867763	C	T	6867763	3	4	97	1	0	0	0	0	1	0	0	0	10917	855	30	1	852	1	OR10A5	11	6867763	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4443333	6867763	128138753	319	14043										
OR10A6	390093	genome.wustl.edu	37	chr11	7949991	7949991	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcaggcataataactgcactGaaactcaggtccaccacaga	7	12	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:7949991G>A	ENST00000309838.2	-	1	218	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAACTGCACTGAAACTCAGGT	0.428																																																	0													115	111	113					11																	7949991		2201	4296	6497	SO:0001819	synonymous_variant	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.219C>T	11.37:g.7949991G>A			Q6IF59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F73	ENST00000309838.2	37	c.219	CCDS31420.1	11																																																																																			OR10A6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	G	NM_001004461		7949991	-1	no_errors	ENST00000309838	ensembl	human	known	70_37	silent	SNP	0.005	A	A	7949991	G	A	7949991	2	1	97	1	0	0	0	0	0	0	0	1	10918	1281	45	1		1	OR10A6	11	7949991	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1082228	7949991	127056525	320	14044										
ST5	6764	genome.wustl.edu	37	chr11	8737223	8737223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggctgtcttcattgaggctgGagggtgaggacggcagactc	17	8	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:8737223G>A	ENST00000534127.1	-	9	2157	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ST5_ENST00000530438.1_Missense_Mutation_p.S171F|ST5_ENST00000313726.6_Missense_Mutation_p.S591F|ST5_ENST00000526757.1_Missense_Mutation_p.S171F|ST5_ENST00000357665.1_Missense_Mutation_p.S591F|ST5_ENST00000526099.1_Missense_Mutation_p.S104F|ST5_ENST00000530991.1_Missense_Mutation_p.S63F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	591					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ATTGAGGCTGGAGGGTGAGGA	0.642																																																	0													79	73	75					11																	8737223		2201	4296	6497	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1772C>T	11.37:g.8737223G>A	ENSP00000433528:p.Ser591Phe		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S591F	ENST00000534127.1	37	c.1772	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482359	0.84747	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	5.54	4.61	0.57282	.	0.110267	0.64402	D	0.000004	T	0.26048	0.0635	L	0.55481	1.735	0.47065	D	0.999309	P;P;D	0.58970	0.918;0.906;0.984	P;P;P	0.59948	0.653;0.8;0.866	T	0.01222	-1.1414	10	0.62326	D	0.03	-11.7328	16.2608	0.82541	0.0:0.1331:0.8669:0.0	.	104;171;591	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	F	171;591;591;63;591;104;171;63;201;63;63;80	ENSP00000435097:S171F;ENSP00000433528:S591F;ENSP00000319678:S591F;ENSP00000432887:S63F;ENSP00000350294:S591F;ENSP00000436808:S104F;ENSP00000436802:S171F;ENSP00000433588:S63F;ENSP00000437096:S63F;ENSP00000431580:S63F;ENSP00000433858:S80F	ENSP00000319678:S591F	S	-	2	0	ST5	8693799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.075000	0.64407	1.304000	0.44892	0.655000	0.94253	TCC	ST5	-	NULL		0.642	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	G	NM_005418		8737223	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8737223	G	A	8737223	3	1	97	1	0	0	0	0	1	0	0	0	15250	1174	41	1	1701	1	ST5	11	8737223	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	787232	8737223	126269293	321	14045										
CTR9	9646	genome.wustl.edu	37	chr11	10800612	10800612	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggatccaacaatgaggcctCagatagaggctcagaacatg	12	9	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:10800612C>T	ENST00000361367.2	+	25	3908	c.3482C>T	c.(3481-3483)tCa>tTa	p.S1161L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1161	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATGAGGCCTCAGATAGAGGC	0.433																																																	0													86	94	91					11																	10800612		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3482C>T	11.37:g.10800612C>T	ENSP00000355013:p.Ser1161Leu		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1161L	ENST00000361367.2	37	c.3482	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555859	0.65425	.	.	ENSG00000198730	ENST00000361367	T	0.47528	0.84	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000004	T	0.55033	0.1895	N	0.24115	0.695	0.53688	D	0.999974	D	0.54601	0.967	P	0.60789	0.879	T	0.56111	-0.8033	10	0.52906	T	0.07	-10.0205	19.7923	0.96464	0.0:1.0:0.0:0.0	.	1161	Q6PD62	CTR9_HUMAN	L	1161	ENSP00000355013:S1161L	ENSP00000355013:S1161L	S	+	2	0	CTR9	10757188	0.997000	0.39634	0.987000	0.45799	0.750000	0.42670	3.993000	0.56987	2.693000	0.91896	0.655000	0.94253	TCA	CTR9	-	NULL		0.433	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	C	NM_014633		10800612	1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	0.999	T	T	10800612	C	T	10800612	3	4	97	1	0	0	0	0	1	0	0	0	4029	838	29	1	3580	1	CTR9	11	10800612	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2063389	10800612	124205904	322	14046										
ARNTL	406	genome.wustl.edu	37	chr11	13391231	13391231	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgttctggagcacgacgttCtttcttctgtaggatgaagt	11	7	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:13391231C>G	ENST00000403290.1	+	12	1092	c.737C>G	c.(736-738)tCt>tGt	p.S246C	ARNTL_ENST00000389707.4_Missense_Mutation_p.S246C|ARNTL_ENST00000403510.3_Missense_Mutation_p.S203C|ARNTL_ENST00000361003.4_Missense_Mutation_p.S246C|ARNTL_ENST00000396441.3_Missense_Mutation_p.S246C|ARNTL_ENST00000497429.1_Intron|ARNTL_ENST00000389708.3_Missense_Mutation_p.S246C|ARNTL_ENST00000401424.1_Missense_Mutation_p.S203C|ARNTL_ENST00000403482.3_Missense_Mutation_p.S244C			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	246					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCACGACGTTCTTTCTTCTGT	0.413																																																	0													170	161	164					11																	13391231		2200	4294	6494	SO:0001583	missense	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.737C>G	11.37:g.13391231C>G	ENSP00000384517:p.Ser246Cys		A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.S246C	ENST00000403290.1	37	c.737		11	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873904	0.91664	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.53	5.53	0.82687	PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.998;0.998;0.988;0.998;0.999	T	0.53606	-0.8415	10	0.87932	D	0	.	19.0887	0.93217	0.0:1.0:0.0:0.0	.	246;244;203;246;246;203	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	C	246;246;203;246;246;246;203;202;244	ENSP00000379718:S246C;ENSP00000374357:S246C;ENSP00000385915:S203C;ENSP00000384517:S246C;ENSP00000354278:S246C;ENSP00000374358:S246C;ENSP00000385581:S203C;ENSP00000385897:S244C	ENSP00000340289:S202C	S	+	2	0	ARNTL	13347807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.605000	0.88082	0.655000	0.94253	TCT	ARNTL	-	pfam_PAS_fold,prints_Nuc_translocat		0.413	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	C	NM_001178		13391231	1	no_errors	ENST00000403290	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13391231	C	G	13391231	3	3	97	1	0	0	0	0	1	0	0	0	968	913	32	1	782	1	ARNTL	11	13391231	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2590619	13391231	121615285	323	14047										
TPH1	7166	genome.wustl.edu	37	chr11	18042628	18042628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcatggcactggttatgctCttggtgtctttcaggatctg	11	8	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:18042628C>G	ENST00000250018.2	-	10	1807	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.K415N	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	415					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.K415N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGGTTATGCTCTTGGTGTCTT	0.418																																																	1	Substitution - Missense(1)	breast(1)											251	243	245					11																	18042628		2200	4293	6493	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1245G>C	11.37:g.18042628C>G	ENSP00000250018:p.Lys415Asn		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.K415N	ENST00000250018.2	37	c.1245	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857192	0.51376	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99548	-6.14;-6.14	5.53	3.6	0.41247	Aromatic amino acid hydroxylase, C-terminal (3);	0.473548	0.24769	N	0.035746	D	0.98153	0.9390	L	0.49126	1.545	0.46241	D	0.998947	B	0.09022	0.002	B	0.15870	0.014	D	0.96986	0.9718	10	0.33940	T	0.23	-2.3899	7.1605	0.25661	0.1358:0.7184:0.0:0.1458	.	415	P17752	TPH1_HUMAN	N	415	ENSP00000250018:K415N;ENSP00000343550:K415N	ENSP00000250018:K415N	K	-	3	2	TPH1	17999204	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.502000	0.22594	0.764000	0.33197	0.650000	0.86243	AAG	TPH1	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.418	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	C	NM_004179		18042628	-1	no_errors	ENST00000341556	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18042628	C	G	18042628	3	3	97	1	0	0	0	0	1	0	0	0	16432	912	32	1	93	1	TPH1	11	18042628	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4651397	18042628	116963888	324	14048										
UEVLD	55293	genome.wustl.edu	37	chr11	18587959	18587959	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctcatcagatgatgatagaGaatacatgggaagttcctct	9	8	3	4	rs564664426		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:18587959G>A	ENST00000396197.3	-	5	456	c.428C>T	c.(427-429)tCt>tTt	p.S143F	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.S121F|UEVLD_ENST00000379387.4_Missense_Mutation_p.S121F|UEVLD_ENST00000300038.7_Missense_Mutation_p.S143F|UEVLD_ENST00000543987.1_Missense_Mutation_p.S143F|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.S105F	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGATGATAGAGAATACATGGG	0.358													G|||	1	0.000199681	0	0	5008	,	,		17435	0		0	False		,,,				2504	0.001																0													93	94	94					11																	18587959		2199	4293	6492	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.428C>T	11.37:g.18587959G>A	ENSP00000379500:p.Ser143Phe			Missense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.S143F	ENST00000396197.3	37	c.428	CCDS41624.1	11	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176083	0.57692	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000300038	D;D;T;D;T	0.84370	-1.81;-1.78;-0.93;-1.84;-0.97	5.99	5.99	0.97316	Ubiquitin E2 variant, N-terminal (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.050848	0.85682	D	0.000000	D	0.93058	0.7790	M	0.82323	2.585	0.80722	D	1	D;P;P;D;P	0.61080	0.989;0.934;0.853;0.966;0.905	D;P;P;D;P	0.72982	0.979;0.841;0.679;0.971;0.797	D	0.93274	0.6654	10	0.87932	D	0	-5.2842	18.6582	0.91462	0.0:0.0:1.0:0.0	.	143;121;121;143;143	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	F	143;105;143;121;121;143	ENSP00000442974:S143F;ENSP00000441092:S105F;ENSP00000379500:S143F;ENSP00000323353:S121F;ENSP00000368697:S121F	ENSP00000300038:S143F	S	-	2	0	UEVLD	18544535	1.000000	0.71417	0.772000	0.31596	0.043000	0.13939	6.174000	0.71943	2.840000	0.97914	0.655000	0.94253	TCT	UEVLD	-	superfamily_UBQ-conjugating_enzyme/RWD		0.358	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395923.2	G	NM_018314		18587959	-1	no_errors	ENST00000396197	ensembl	human	known	70_37	missense	SNP	0.996	A	A	18587959	G	A	18587959	3	1	97	1	0	0	0	0	1	0	0	0	16964	942	33	1	1019	1	UEVLD	11	18587959	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	545331	18587959	116418557	325	14049										
E2F8	79733	genome.wustl.edu	37	chr11	19259631	19259631	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgctgtggtggattctttcaGaggtgttttcattagtcccc	11	8	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:19259631G>C	ENST00000527884.1	-	3	296	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L22V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	22					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L22M(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATTCTTTCAGAGGTGTTTTC	0.413																																																	1	Substitution - Missense(1)	endometrium(1)											97	100	99					11																	19259631		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.64C>G	11.37:g.19259631G>C	ENSP00000434199:p.Leu22Val		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.L22V	ENST00000527884.1	37	c.64	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390245	0.42410	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.48522	2.09;2.09;0.81	5.27	3.41	0.39046	.	0.128851	0.35151	N	0.003418	T	0.47097	0.1427	M	0.63843	1.955	0.33224	D	0.555041	P	0.46395	0.877	B	0.43194	0.411	T	0.63497	-0.6624	10	0.62326	D	0.03	-9.6696	11.6651	0.51368	0.1459:0.0:0.8541:0.0	.	22	A0AVK6	E2F8_HUMAN	V	22	ENSP00000434199:L22V;ENSP00000250024:L22V;ENSP00000437326:L22V	ENSP00000250024:L22V	L	-	1	2	E2F8	19216207	0.409000	0.25368	1.000000	0.80357	0.943000	0.58893	0.712000	0.25779	0.717000	0.32145	-0.122000	0.15005	CTG	E2F8	-	NULL		0.413	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	G	NM_024680		19259631	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	0.980	C	C	19259631	G	C	19259631	3	2	97	1	0	0	0	0	1	0	0	0	4883	933	33	1	2583	1	E2F8	11	19259631	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	671672	19259631	115746885	326	14050										
C11orf46	120534	genome.wustl.edu	37	chr11	30352826	30352826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aatttggaagacagcttgtaCctggttggaagctttgtcca	11	7	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:30352826C>T	ENST00000282032.3	+	2	546	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	111						cytoplasm (GO:0005737)											ACAGCTTGTACCTGGTTGGAA	0.383																																																	0													111	112	111					11																	30352826		2202	4299	6501	SO:0001583	missense	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.331C>T	11.37:g.30352826C>T	ENSP00000282032:p.Pro111Ser		Q5HYH9	Missense_Mutation	SNP	NULL	p.P111S	ENST00000282032.3	37	c.331	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468202	0.63625	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.76448	-1.02	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000003	D	0.85097	0.5619	L	0.46157	1.445	0.43559	D	0.995878	D	0.60575	0.988	D	0.75484	0.986	D	0.85961	0.1470	10	0.72032	D	0.01	-20.8449	17.7332	0.88384	0.0:1.0:0.0:0.0	.	111	Q8N8R7	CK046_HUMAN	S	111	ENSP00000282032:P111S	ENSP00000282032:P111S	P	+	1	0	C11orf46	30309402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.157000	0.64911	2.630000	0.89119	0.655000	0.94253	CCT	ARL14EP	-	NULL		0.383	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	C	NM_152316		30352826	1	no_errors	ENST00000282032	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30352826	C	T	30352826	3	4	97	1	0	0	0	0	1	0	0	0	1647	507	18	4	333	4	C11orf46	11	30352826	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	11093195	30352826	104653690	327	14051										
PAMR1	25891	genome.wustl.edu	37	chr11	35454134	35454134	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctggcacagaacatgttatCagtgacactcactgggatgc	11	10	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:35454134C>T	ENST00000378880.2	-	11	2378	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	PAMR1_ENST00000532848.1_Missense_Mutation_p.D605N|PAMR1_ENST00000378878.3_Missense_Mutation_p.D534N|PAMR1_ENST00000278360.3_Missense_Mutation_p.D662N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	645	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AACATGTTATCAGTGACACTC	0.582																																																	0													87	72	77					11																	35454134		2202	4298	6500	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1933G>A	11.37:g.35454134C>T	ENSP00000368158:p.Asp645Asn		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D662N	ENST00000378880.2	37	c.1984	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011899	0.93346	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.045577	0.85682	D	0.000000	D	0.95290	0.8472	L	0.55213	1.73	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.996	P;P;P	0.60609	0.877;0.862;0.866	D	0.95706	0.8753	10	0.87932	D	0	.	18.8876	0.92385	0.0:1.0:0.0:0.0	.	534;645;662	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	N	662;645;534;605;622	ENSP00000278360:D662N;ENSP00000368158:D645N;ENSP00000368156:D534N;ENSP00000433868:D605N;ENSP00000432591:D622N	ENSP00000278360:D662N	D	-	1	0	PAMR1	35410710	1.000000	0.71417	0.953000	0.39169	0.892000	0.51952	7.581000	0.82535	2.540000	0.85666	0.561000	0.74099	GAT	PAMR1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.582	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	C	NM_015430		35454134	-1	no_errors	ENST00000278360	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35454134	C	T	35454134	3	4	97	1	0	0	0	0	1	0	0	0	11437	826	29	1	233	1	PAMR1	11	35454134	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5101308	35454134	99552382	328	14052										
SYT13	57586	genome.wustl.edu	37	chr11	45274066	45274066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctccccggccacgctgtgaCgggagaagcggtcgcaggtc	16	14	0	2	rs141892837		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:45274066C>T	ENST00000020926.3	-	4	863	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	251	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACGCTGTGACGGGAGAAGCG	0.692											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		17969	0.001		0	False		,,,				2504	0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	46	46	46		752	5.8	1	11	dbSNP_134	46	2,8594	2.2+/-6.3	0,2,4296	no	missense	SYT13	NM_020826.2	29	0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231	benign	251/427	45274066	3,12999	2203	4298	6501	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.752G>A	11.37:g.45274066C>T	ENSP00000020926:p.Arg251His	930	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R251H	ENST00000020926.3	37	c.752	CCDS31470.1	11	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398047	0.62177	2.27E-4	2.33E-4	ENSG00000019505	ENST00000020926	T	0.09163	3.01	5.85	5.85	0.93711	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.061330	0.64402	D	0.000013	T	0.16171	0.0389	L	0.45228	1.405	0.47737	D	0.999501	P	0.50710	0.938	P	0.45119	0.47	T	0.00216	-1.1910	10	0.49607	T	0.09	.	20.1775	0.98187	0.0:1.0:0.0:0.0	.	251	Q7L8C5	SYT13_HUMAN	H	251	ENSP00000020926:R251H	ENSP00000020926:R251H	R	-	2	0	SYT13	45230642	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	4.590000	0.61013	2.771000	0.95319	0.561000	0.74099	CGT	SYT13	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.692	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT13	HGNC	protein_coding	OTTHUMT00000390110.1	C	NM_020826		45274066	-1	no_errors	ENST00000020926	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45274066	C	T	45274066	3	4	97	1	0	0	0	0	1	0	0	0	15499	536	19	2	540	2	SYT13	11	45274066	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9819932	45274066	89732450	329	14053										
RASGRP2	10235	genome.wustl.edu	37	chr11	64508425	64508425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctccccccacgcacacgctGtctatgtcgattaggctgct	9	16	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:64508425G>T	ENST00000354024.3	-	5	618	c.366C>A	c.(364-366)gaC>gaA	p.D122E	RASGRP2_ENST00000377497.3_Missense_Mutation_p.D122E|RASGRP2_ENST00000377494.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377487.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000377489.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D122E|RASGRP2_ENST00000377486.3_Missense_Mutation_p.D122E|RASGRP2_ENST00000394430.1_Missense_Mutation_p.D122E	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	122	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCACACGCTGTCTATGTCGA	0.532											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													71	57	62					11																	64508425		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.366C>A	11.37:g.64508425G>T	ENSP00000338864:p.Asp122Glu	1077	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D122E	ENST00000354024.3	37	c.366	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449057	0.26074	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594	T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.3	-4.5	0.03493	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.523072	0.21028	N	0.081396	T	0.16727	0.0402	N	0.16307	0.4	0.27921	N	0.938247	B	0.02656	0.0	B	0.01281	0.0	T	0.17167	-1.0378	10	0.13108	T	0.6	0.0288	19.2304	0.93836	0.0:0.268:0.7319:0.0	.	122	Q7LDG7	GRP2_HUMAN	E	122	ENSP00000366714:D122E;ENSP00000377953:D122E;ENSP00000366717:D122E;ENSP00000338864:D122E;ENSP00000399114:D122E;ENSP00000366706:D122E;ENSP00000366707:D122E;ENSP00000366709:D122E;ENSP00000377951:D122E	ENSP00000338864:D122E	D	-	3	2	RASGRP2	64265001	0.026000	0.19158	0.666000	0.29783	0.696000	0.40369	-0.170000	0.09897	-0.637000	0.05516	-0.494000	0.04653	GAC	RASGRP2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.532	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	G	NM_153819		64508425	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	0.993	T	T	64508425	G	T	64508425	3	4	97	1	0	0	0	0	1	0	0	0	13105	1368	48	4	1511	4	RASGRP2	11	64508425	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	19234359	64508425	70498091	330	14054										
LTBP3	4054	genome.wustl.edu	37	chr11	65307845	65307845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gttggactcgtccaggcactCgtccacgtctgcagggagga	14	12	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:65307845C>G	ENST00000301873.5	-	23	3383	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	LTBP3_ENST00000532932.1_Missense_Mutation_p.E469Q|LTBP3_ENST00000529189.1_Missense_Mutation_p.E42Q|LTBP3_ENST00000536982.1_Missense_Mutation_p.E665Q|LTBP3_ENST00000322147.4_Missense_Mutation_p.E1039Q|LTBP3_ENST00000530785.1_Missense_Mutation_p.E42Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1039	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCCAGGCACTCGTCCACGTCT	0.716											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	15	15					11																	65307845		2195	4289	6484	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3115G>C	11.37:g.65307845C>G	ENSP00000301873:p.Glu1039Gln	1083	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1039Q	ENST00000301873.5	37	c.3115	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502298|4.502298	0.85176|0.85176	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866|ENST00000526927	D;D;D;D;D;D;D;D|.	0.98862|.	-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19|.	4.32|4.32	4.32|4.32	0.51571|0.51571	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85626|0.85626	0.5740|0.5740	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;0.96;1.0;0.998;0.999;1.0;0.999|.	D|D	0.89376|0.89376	0.3678|0.3678	10|5	0.72032|.	D|.	0.01|.	.|.	12.3128|12.3128	0.54938|0.54938	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	950;665;922;1039;1039;469;665|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8|.	.;.;.;LTBP3_HUMAN;.;.;.|.	Q|P	42;1039;1039;42;42;469;665;42;950|689	ENSP00000326647:E1039Q;ENSP00000301873:E1039Q;ENSP00000434315:E42Q;ENSP00000434406:E42Q;ENSP00000435530:E469Q;ENSP00000441912:E665Q;ENSP00000436341:E42Q;ENSP00000435276:E950Q|.	ENSP00000301873:E1039Q|.	E|R	-|-	1|2	0|0	LTBP3|LTBP3	65064421|65064421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	5.204000|5.204000	0.65180|0.65180	1.957000|1.957000	0.56846|0.56846	0.462000|0.462000	0.41574|0.41574	GAG|CGA	LTBP3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.716	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	C	NM_021070		65307845	-1	no_errors	ENST00000301873	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65307845	C	G	65307845	3	3	97	1	0	0	0	0	1	0	0	0	9098	893	31	1	820	1	LTBP3	11	65307845	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	799420	65307845	69698671	331	14055										
PCNXL3	399909	genome.wustl.edu	37	chr11	65390978	65390978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcaggacgcggggagtgctgGagaacatcttcggcgtgggc	19	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:65390978G>A	ENST00000355703.3	+	12	2913	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	792						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGAGTGCTGGAGAACATCTT	0.612																																																	0													55	61	59					11																	65390978		2098	4205	6303	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2374G>A	11.37:g.65390978G>A	ENSP00000347931:p.Glu792Lys		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.E792K	ENST00000355703.3	37	c.2374	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949550	0.53186	.	.	ENSG00000197136	ENST00000355703	T	0.77358	-1.09	4.31	4.31	0.51392	.	.	.	.	.	T	0.77598	0.4154	M	0.78344	2.41	0.49582	D	0.999801	B	0.25521	0.128	B	0.19666	0.026	T	0.78518	-0.2173	9	0.59425	D	0.04	.	14.2853	0.66243	0.0:0.0:1.0:0.0	.	792	Q9H6A9	PCX3_HUMAN	K	792	ENSP00000347931:E792K	ENSP00000347931:E792K	E	+	1	0	PCNXL3	65147554	1.000000	0.71417	0.998000	0.56505	0.292000	0.27327	9.277000	0.95755	1.951000	0.56629	0.407000	0.27541	GAG	PCNXL3	-	NULL		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	G	NM_032223		65390978	1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65390978	G	A	65390978	3	1	97	1	0	0	0	0	1	0	0	0	11617	1175	41	1	2420	1	PCNXL3	11	65390978	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	83133	65390978	69615538	332	14056										
TBC1D10C	374403	genome.wustl.edu	37	chr11	67173470	67173470	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccgtggctgctgtgctgctCatgcacctgcccccagaggt	12	16	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:67173470C>G	ENST00000542590.1	+	5	578	c.564C>G	c.(562-564)ctC>ctG	p.L188L	TBC1D10C_ENST00000526387.1_Nonsense_Mutation_p.S187*|TBC1D10C_ENST00000312390.5_Silent_p.L188L			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	188	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGTGCTGCTCATGCACCTGC	0.647																																																	0													18	19	18					11																	67173470		2195	4293	6488	SO:0001819	synonymous_variant	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.564C>G	11.37:g.67173470C>G			G3V1D6	Nonsense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.S187*	ENST00000542590.1	37	c.560	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908985	0.72868	.	.	ENSG00000175463	ENST00000526387	.	.	.	4.34	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6888	0.28557	0.0:0.7176:0.0:0.2824	.	.	.	.	X	187	.	ENSP00000435543:S187X	S	+	2	0	TBC1D10C	66930046	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.260000	0.18424	0.472000	0.27344	0.462000	0.41574	TCA	TBC1D10C	-	NULL		0.647	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	C	NM_198517		67173470	1	no_errors	ENST00000526387	ensembl	human	novel	70_37	nonsense	SNP	1.000	G	G	67173470	C	G	67173470	2	3	97	1	0	0	0	0	0	0	0	1	15630	813	29	1		1	TBC1D10C	11	67173470	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1782492	67173470	67833046	333	14057										
SUV420H1	51111	genome.wustl.edu	37	chr11	67926451	67926451	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agccgcttgcaatgatttctCaattttatctttgaaagtaa	6	7	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:67926451C>G	ENST00000304363.4	-	11	1715	c.1362G>C	c.(1360-1362)ttG>ttC	p.L454F		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	454					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AATGATTTCTCAATTTTATCT	0.358																																																	0													76	80	78					11																	67926451		2200	4294	6494	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1362G>C	11.37:g.67926451C>G	ENSP00000305899:p.Leu454Phe		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L454F	ENST00000304363.4	37	c.1362	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371725	0.42003	.	.	ENSG00000110066	ENST00000304363	T	0.55234	0.53	5.55	-4.15	0.03881	.	0.355394	0.25590	N	0.029626	T	0.40694	0.1127	N	0.24115	0.695	0.54753	D	0.999983	D	0.56035	0.974	P	0.51135	0.66	T	0.41858	-0.9485	10	0.62326	D	0.03	-11.624	9.5483	0.39295	0.0:0.4673:0.1034:0.4293	.	454	Q4FZB7	SV421_HUMAN	F	454	ENSP00000305899:L454F	ENSP00000305899:L454F	L	-	3	2	SUV420H1	67683027	0.986000	0.35501	0.015000	0.15790	0.203000	0.24098	0.185000	0.16958	-0.942000	0.03695	-0.918000	0.02743	TTG	SUV420H1	-	NULL		0.358	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	C	NM_017635		67926451	-1	no_errors	ENST00000304363	ensembl	human	known	70_37	missense	SNP	0.647	G	G	67926451	C	G	67926451	3	3	97	1	0	0	0	0	1	0	0	0	15444	825	29	1	1299	1	SUV420H1	11	67926451	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	752981	67926451	67080065	334	14058										
FOLR1	2348	genome.wustl.edu	37	chr11	71907080	71907080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggagtggccgctgcatccaGatgtggttcgacccagccca	14	13	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:71907080G>C	ENST00000393679.1	+	5	1069	c.633G>C	c.(631-633)caG>caC	p.Q211H	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.Q211H|FOLR1_ENST00000393681.2_Missense_Mutation_p.Q211H|FOLR1_ENST00000312293.4_Missense_Mutation_p.Q211H			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	211					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GCTGCATCCAGATGTGGTTCG	0.592																																																	0													90	80	83					11																	71907080		2200	4293	6493	SO:0001583	missense	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.633G>C	11.37:g.71907080G>C	ENSP00000377284:p.Gln211His		Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.Q211H	ENST00000393679.1	37	c.633	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	g	18.96	3.733356	0.69189	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.11	3.19	0.36642	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	M	0.92833	3.35	0.52099	D	0.999949	D	0.89917	1.0	D	0.97110	1.0	D	0.89225	0.3573	10	0.62326	D	0.03	-7.3689	9.5179	0.39117	0.1047:0.0:0.8953:0.0	.	211	P15328	FOLR1_HUMAN	H	211	ENSP00000308137:Q211H;ENSP00000377286:Q211H;ENSP00000377284:Q211H;ENSP00000377281:Q211H	ENSP00000308137:Q211H	Q	+	3	2	FOLR1	71584728	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.879000	0.48522	1.060000	0.40578	0.563000	0.77884	CAG	FOLR1	-	pfam_Folate_rcpt-like		0.592	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	G	NM_016725		71907080	1	no_errors	ENST00000312293	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71907080	G	C	71907080	3	2	97	1	0	0	0	0	1	0	0	0	5999	933	33	1	647	1	FOLR1	11	71907080	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3980629	71907080	63099436	335	14059										
ALG8	79053	genome.wustl.edu	37	chr11	77812242	77812242	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taaaaagaggtttttcttttCtgaaggaaaaaagagagaaa	9	2	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:77812242C>G	ENST00000299626.5	-	13	1421		c.e13-1		ALG8_ENST00000532552.2_Splice_Site|ALG8_ENST00000376156.3_Splice_Site	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TTTTTCTTTTCTGAAGGAAAA	0.423																																																	0													30	32	32					11																	77812242		2200	4292	6492	SO:0001630	splice_region_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1350-1G>C	11.37:g.77812242C>G			A6NDW6|O60860	Splice_Site	SNP	-	e13-1	ENST00000299626.5	37	c.1350-1	CCDS8258.1	11	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577090	0.65878	.	.	ENSG00000159063	ENST00000530608;ENST00000299626;ENST00000525783;ENST00000526849;ENST00000532306	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.436	0.90646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALG8	77489890	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.212000	0.72188	2.637000	0.89404	0.563000	0.77884	.	ALG8	-	-		0.423	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	C	NM_024079	Intron	77812242	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	77812242	C	G	77812242	5	3	97	1	0	0	0	0	0	0	1	0	523	927	32	1	235	1	ALG8	11	77812242	Splice_Site	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5905162	77812242	57194274	336	14060										
NOX4	50507	genome.wustl.edu	37	chr11	89133529	89133529	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acagtacaggcacaaaggtcCagaaatccaaagccaagtct	8	11	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:89133529C>A	ENST00000263317.4	-	10	1103	c.865G>T	c.(865-867)Gga>Tga	p.G289*	NOX4_ENST00000527626.1_Nonsense_Mutation_p.G123*|NOX4_ENST00000535633.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.G289*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.G310*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.G264*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.G265*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.G265*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	289	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CACAAAGGTCCAGAAATCCAA	0.398																																																	0													45	44	44					11																	89133529		2201	4299	6500	SO:0001587	stop_gained	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.865G>T	11.37:g.89133529C>A	ENSP00000263317:p.Gly289*		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.G310*	ENST00000263317.4	37	c.928	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.490230	0.98316	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	5.24	4.29	0.51040	.	0.398293	0.26383	N	0.024697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.9997	15.1507	0.72696	0.1418:0.8582:0.0:0.0	.	.	.	.	X	265;265;265;289;289;265;265;265;123;264;310	.	.	G	-	1	0	NOX4	88773177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.445000	0.60007	2.455000	0.83008	0.561000	0.74099	GGA	NOX4	-	NULL		0.398	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	C	NM_016931		89133529	-1	no_errors	ENST00000413594	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	89133529	C	A	89133529	4	1	97	1	0	0	0	0	0	1	0	0	10582	603	21	4	907	4	NOX4	11	89133529	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	11321287	89133529	45872987	337	14061										
KDM4DL	390245	genome.wustl.edu	37	chr11	94759225	94759225	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagcaggaatgtggggttgtCatcgagggtgtcaacacacc	15	8	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:94759225C>G	ENST00000450979.2	+	1	804	c.504C>G	c.(502-504)gtC>gtG	p.V168V		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	168	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GTGGGGTTGTCATCGAGGGTG	0.498																																																	0													40	37	38					11																	94759225		692	1590	2282	SO:0001819	synonymous_variant	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.504C>G	11.37:g.94759225C>G				Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V168	ENST00000450979.2	37	c.504	CCDS44713.1	11																																																																																			KDM4E	-	smart_JmjC_dom,pfscan_JmjC_dom		0.498	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	C	NM_001161630		94759225	1	no_errors	ENST00000450979	ensembl	human	known	70_37	silent	SNP	0.823	G	G	94759225	C	G	94759225	2	3	97	1	0	0	0	0	0	0	0	1	8152	813	29	1		1	KDM4DL	11	94759225	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5625696	94759225	40247291	338	14062										
FAM76B	143684	genome.wustl.edu	37	chr11	95521679	95521679	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaacctctcttgttgaaattCtgatctgcagtaagtacatt	6	8	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:95521679C>G	ENST00000358780.5	-	2	448	c.136G>C	c.(136-138)Gaa>Caa	p.E46Q	CEP57_ENST00000538658.1_5'Flank|CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.E46Q|CEP57_ENST00000325486.5_5'Flank|FAM76B_ENST00000538047.1_5'UTR	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	46						nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.E46K(1)		breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTGAAATTCTGATCTGCAG	0.338																																																	1	Substitution - Missense(1)	breast(1)											91	89	90					11																	95521679		1823	4085	5908	SO:0001583	missense	143684				CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.136G>C	11.37:g.95521679C>G	ENSP00000351631:p.Glu46Gln		Q6PIU3|Q8TC53	Missense_Mutation	SNP	NULL	p.E46Q	ENST00000358780.5	37	c.136	CCDS41700.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243416	0.79912	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.69248	2.105	0.80722	D	1	D	0.53619	0.961	P	0.58928	0.848	T	0.78866	-0.2035	9	0.87932	D	0	-28.5124	18.94	0.92601	0.0:1.0:0.0:0.0	.	46	Q5HYJ3	FA76B_HUMAN	Q	46	.	ENSP00000351631:E46Q	E	-	1	0	FAM76B	95161327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.424000	0.80242	2.464000	0.83262	0.561000	0.74099	GAA	FAM76B	-	NULL		0.338	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM76B	HGNC	protein_coding	OTTHUMT00000395969.1	C	NM_144664		95521679	-1	no_errors	ENST00000358780	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95521679	C	G	95521679	3	3	97	1	0	0	0	0	1	0	0	0	5643	922	32	1	919	1	FAM76B	11	95521679	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	762454	95521679	39484837	339	14063										
FDXACB1	91893	genome.wustl.edu	37	chr11	111746780	111746780	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctaattcagcaatgagtttCtcatttatggttttgatagg	8	6	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:111746780C>T	ENST00000260257.4	-	5	788	c.741G>A	c.(739-741)gaG>gaA	p.E247E	C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Silent_p.E98E|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	247					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CAATGAGTTTCTCATTTATGG	0.383																																																	0													118	112	114					11																	111746780		1834	4083	5917	SO:0001819	synonymous_variant	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.741G>A	11.37:g.111746780C>T			A0PJW7|B4DUU2	Silent	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.E247	ENST00000260257.4	37	c.741	CCDS44729.1	11																																																																																			FDXACB1	-	NULL		0.383	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	C	NM_138378		111746780	-1	no_errors	ENST00000260257	ensembl	human	known	70_37	silent	SNP	1.000	T	T	111746780	C	T	111746780	2	4	97	1	0	0	0	0	0	0	0	1	5824	912	32	1		1	FDXACB1	11	111746780	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	16225101	111746780	23259736	340	14064										
PCSK7	9159	genome.wustl.edu	37	chr11	117089862	117089862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcctcgttggtgacccactCtgcacggcgatcctcatact	9	15	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:117089862C>G	ENST00000320934.3	-	11	1972	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	PCSK7_ENST00000540028.1_Missense_Mutation_p.E89Q	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	448	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGACCCACTCTGCACGGCGA	0.562			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													63	52	56					11																	117089862		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1342G>C	11.37:g.117089862C>G	ENSP00000325917:p.Glu448Gln		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E448Q	ENST00000320934.3	37	c.1342	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112377	0.56398	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.81163	-1.46;-1.46	5.2	4.29	0.51040	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.343507	0.28225	N	0.016140	T	0.70245	0.3202	L	0.36672	1.1	0.23636	N	0.997233	B	0.25904	0.137	B	0.23275	0.045	T	0.64732	-0.6338	10	0.72032	D	0.01	-13.3643	9.2451	0.37520	0.0:0.8452:0.0:0.1548	.	448	Q16549	PCSK7_HUMAN	Q	448;89;448	ENSP00000325917:E448Q;ENSP00000441944:E89Q	ENSP00000325917:E448Q	E	-	1	0	PCSK7	116595072	0.085000	0.21516	0.877000	0.34402	0.864000	0.49448	2.245000	0.43133	2.442000	0.82660	0.591000	0.81541	GAG	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.562	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	C	NM_004716		117089862	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	0.995	G	G	117089862	C	G	117089862	3	3	97	1	0	0	0	0	1	0	0	0	11629	922	32	1	1043	1	PCSK7	11	117089862	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5343082	117089862	17916654	341	14065										
BCL9L	283149	genome.wustl.edu	37	chr11	118772086	118772086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcagcatctgctgctgcgggGtcatctgcacgttcaggttc	12	12	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:118772086G>A	ENST00000334801.3	-	6	3330	c.2366C>T	c.(2365-2367)aCc>aTc	p.T789I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	789	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCTGCGGGGTCATCTGCAC	0.607																																																	0													157	93	115					11																	118772086		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2366C>T	11.37:g.118772086G>A	ENSP00000335320:p.Thr789Ile		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.T789I	ENST00000334801.3	37	c.2366	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794693	0.31777	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78364	-1.17	5.67	4.7	0.59300	.	0.000000	0.52532	D	0.000070	T	0.76919	0.4055	L	0.36672	1.1	0.34431	D	0.698491	D;D	0.57899	0.981;0.968	P;P	0.57101	0.813;0.655	T	0.74057	-0.3787	10	0.07990	T	0.79	-21.5683	15.7529	0.78001	0.0:0.1366:0.8634:0.0	.	784;789	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	I	789;752;82;789;789	ENSP00000335320:T789I	ENSP00000335320:T789I	T	-	2	0	BCL9L	118277296	1.000000	0.71417	0.995000	0.50966	0.676000	0.39594	3.332000	0.52083	2.659000	0.90383	0.655000	0.94253	ACC	BCL9L	-	NULL		0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	G	NM_182557		118772086	-1	no_errors	ENST00000334801	ensembl	human	known	70_37	missense	SNP	0.996	A	A	118772086	G	A	118772086	3	1	97	1	0	0	0	0	1	0	0	0	1383	1261	44	4	2145	4	BCL9L	11	118772086	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1682224	118772086	16234430	342	14066										
HSPA8	3312	genome.wustl.edu	37	chr11	122931451	122931451	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accataaagggccaatgtttCatatcagactggacaacagc	8	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:122931451C>T	ENST00000532636.1	-	3	380	c.261G>A	c.(259-261)atG>atA	p.M87I	HSPA8_ENST00000533540.1_Missense_Mutation_p.M87I|HSPA8_ENST00000534624.1_Missense_Mutation_p.M87I|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.M87I|HSPA8_ENST00000227378.3_Missense_Mutation_p.M87I|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000526110.1_Missense_Mutation_p.M87I|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	87					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCAATGTTTCATATCAGACT	0.433																																					Colon(21;486 594 5900 6733 14272)												0													87	86	87					11																	122931451		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.261G>A	11.37:g.122931451C>T	ENSP00000437125:p.Met87Ile		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.M87I	ENST00000532636.1	37	c.261	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785515	0.70337	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.00856	5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61	4.19	4.19	0.49359	.	0.042118	0.85682	D	0.000000	T	0.01765	0.0056	N	0.13003	0.285	0.80722	D	1	P;P;P;B	0.44344	0.833;0.688;0.638;0.002	P;P;P;B	0.53912	0.676;0.737;0.618;0.015	T	0.75816	-0.3184	10	0.59425	D	0.04	-23.2948	16.9022	0.86117	0.0:1.0:0.0:0.0	.	87;87;87;87	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	I	87;87;87;87;87;87;27;87;87;87;87;87;87	ENSP00000437125:M87I;ENSP00000437189:M87I;ENSP00000432083:M87I;ENSP00000404372:M87I;ENSP00000227378:M87I;ENSP00000433584:M87I;ENSP00000432884:M27I;ENSP00000435154:M87I;ENSP00000431641:M87I;ENSP00000436183:M87I;ENSP00000434415:M87I;ENSP00000434565:M87I;ENSP00000434851:M87I	ENSP00000227378:M87I	M	-	3	0	HSPA8	122436661	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.816000	0.86201	2.037000	0.60232	0.491000	0.48974	ATG	HSPA8	-	pfam_Hsp_70_fam		0.433	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122931451	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122931451	C	T	122931451	3	4	97	1	0	0	0	0	1	0	0	0	7436	826	29	1	1707	1	HSPA8	11	122931451	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4159365	122931451	12075065	343	14067										
KDM5A	5927	genome.wustl.edu	37	chr12	465702	465702	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tactcacatctccagattctGactaaaaaataagcaaaatt	3	9	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:465702G>C	ENST00000399788.2	-	6	1036	c.674C>G	c.(673-675)tCa>tGa	p.S225*	KDM5A_ENST00000382815.4_Splice_Site_p.S225*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	225					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCAGATTCTGACTAAAAAAT	0.383			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													68	64	65					12																	465702		1816	4079	5895	SO:0001630	splice_region_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.673-1C>G	12.37:g.465702G>C			A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S225*	ENST00000399788.2	37	c.674	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.092525	0.98648	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	.	.	.	5.77	5.77	0.91146	.	0.363638	0.23382	N	0.048781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.0358	13.4801	0.61330	0.0742:0.0:0.9258:0.0	.	.	.	.	X	184;225;225	.	ENSP00000372265:S225X	S	-	2	0	KDM5A	335963	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.903000	0.63272	2.712000	0.92718	0.655000	0.94253	TCA	KDM5A	-	NULL		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056	Nonsense_Mutation	465702	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	465702	G	C	465702	5	2	97	1	0	0	0	0	0	0	1	0	8153	1304	45	1	4490	1	KDM5A	12	465702	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		465702	133386193	344	14068										
KCNA1	3736	genome.wustl.edu	37	chr12	5020790	5020790	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgaggaacgagtacttcttCgaccgcaaccggcccagctt	10	14	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:5020790C>T	ENST00000382545.3	+	2	1353	c.246C>T	c.(244-246)ttC>ttT	p.F82F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	82					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGTACTTCTTCGACCGCAACC	0.632																																																	0													65	66	66					12																	5020790		2203	4300	6503	SO:0001819	synonymous_variant	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.246C>T	12.37:g.5020790C>T			A6NM83|Q3MIQ9	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.F82	ENST00000382545.3	37	c.246	CCDS8535.1	12																																																																																			KCNA1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020790	1	no_errors	ENST00000382545	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5020790	C	T	5020790	2	4	97	1	0	0	0	0	0	0	0	1	8021	883	31	1		1	KCNA1	12	5020790	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4555088	5020790	128831105	345	14069										
NTF3	4908	genome.wustl.edu	37	chr12	5603482	5603482	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagactcgctcaattccctCattattaagctgatccaggc	7	12	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:5603482C>T	ENST00000331010.6	+	1	185	c.102C>T	c.(100-102)ctC>ctT	p.L34L	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Silent_p.L47L	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	34					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TCAATTCCCTCATTATTAAGC	0.438																																					GBM(194;1104 2182 8339 9578 18493)												0													100	99	100					12																	5603482		2203	4300	6503	SO:0001819	synonymous_variant	4908				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.102C>T	12.37:g.5603482C>T			B7Z1T5|Q6FH50	Silent	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3	p.L34	ENST00000331010.6	37	c.102	CCDS8538.1	12																																																																																			NTF3	-	pirsf_Nerve_growth_factor-like		0.438	NTF3-002	KNOWN	basic|CCDS	protein_coding	NTF3	HGNC	protein_coding	OTTHUMT00000400486.1	C			5603482	1	no_errors	ENST00000331010	ensembl	human	known	70_37	silent	SNP	0.997	T	T	5603482	C	T	5603482	2	4	97	1	0	0	0	0	0	0	0	1	10720	813	29	1		1	NTF3	12	5603482	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	582692	5603482	128248413	346	14070										
CHD4	1108	genome.wustl.edu	37	chr12	6703682	6703682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acagttttcccaaggcccatCtcatcagccaagatggtgtc	8	13	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:6703682C>G	ENST00000357008.2	-	15	2419	c.2256G>C	c.(2254-2256)gaG>gaC	p.E752D	CHD4_ENST00000309577.6_Missense_Mutation_p.E752D|CHD4_ENST00000544484.1_Missense_Mutation_p.E749D|CHD4_ENST00000544040.1_Missense_Mutation_p.E745D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	752	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAAGGCCCATCTCATCAGCCA	0.507																																					Colon(32;586 792 4568 16848 45314)												0													137	126	129					12																	6703682		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2256G>C	12.37:g.6703682C>G	ENSP00000349508:p.Glu752Asp		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E752D	ENST00000357008.2	37	c.2256	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819146	0.71028	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.17	1.22	0.21188	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	L	0.28649	0.875	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.99	D;D;D	0.87578	0.99;0.998;0.98	D	0.91707	0.5378	10	0.87932	D	0	.	8.1668	0.31230	0.0:0.4776:0.0:0.5224	.	752;752;745	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	749;745;752;752;726	ENSP00000440392:E749D;ENSP00000440542:E745D;ENSP00000312419:E752D;ENSP00000349508:E752D	ENSP00000312419:E752D	E	-	3	2	CHD4	6573943	0.961000	0.32948	1.000000	0.80357	0.998000	0.95712	0.116000	0.15561	0.333000	0.23563	0.591000	0.81541	GAG	CHD4	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6703682	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6703682	C	G	6703682	3	3	97	1	0	0	0	0	1	0	0	0	3332	912	32	1	3586	1	CHD4	12	6703682	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1100200	6703682	127148213	347	14071										
SPSB2	84727	genome.wustl.edu	37	chr12	6981406	6981406	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgccccaggcctcacctctCctttcgcccaggtagcggat	9	18	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:6981406C>G	ENST00000524270.1	-	2	846	c.660G>C	c.(658-660)agG>agC	p.R220S	RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000519357.1_Missense_Mutation_p.R220S|SPSB2_ENST00000523102.1_Missense_Mutation_p.R220S|LRRC23_ENST00000433346.1_5'Flank	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCTCACCTCTCCTTTCGCCCA	0.617											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93	103	100					12																	6981406		2203	4300	6503	SO:0001583	missense	84727			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.660G>C	12.37:g.6981406C>G	ENSP00000428338:p.Arg220Ser	638	B7Z4W1|D3DUT0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.R220S	ENST00000524270.1	37	c.660	CCDS8567.1	12	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444450	0.63178	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.46819	0.99;0.99;0.86	3.69	2.78	0.32641	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);SOCS protein, C-terminal (1);B30.2/SPRY domain (1);	0.582783	0.15769	N	0.245526	T	0.34890	0.0913	N	0.08118	0	0.27086	N	0.962971	B;D	0.55800	0.057;0.973	B;P	0.52856	0.073;0.711	T	0.10042	-1.0647	10	0.59425	D	0.04	.	6.3646	0.21447	0.0:0.8576:0.0:0.1424	.	220;220	B7Z4W1;Q99619	.;SPSB2_HUMAN	S	220	ENSP00000430872:R220S;ENSP00000428338:R220S;ENSP00000431037:R220S	ENSP00000431037:R220S	R	-	3	2	SPSB2	6851667	0.997000	0.39634	1.000000	0.80357	0.816000	0.46133	0.537000	0.23144	0.853000	0.35312	0.563000	0.77884	AGG	SPSB2	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C		0.617	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB2	HGNC	protein_coding	OTTHUMT00000375721.1	C	NM_032641		6981406	-1	no_errors	ENST00000523102	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6981406	C	G	6981406	3	3	97	1	0	0	0	0	1	0	0	0	15143	854	30	1	139	1	SPSB2	12	6981406	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	277724	6981406	126870489	348	14072										
SPSB2	84727	genome.wustl.edu	37	chr12	6981744	6981744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cggggcgagggccgtggccaCgcccaccacggcatgcgtgc	17	16	0	0	rs369645281		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:6981744C>T	ENST00000524270.1	-	2	508	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000519357.1_Missense_Mutation_p.V108M|SPSB2_ENST00000523102.1_Missense_Mutation_p.V108M|LRRC23_ENST00000433346.1_5'Flank	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	108	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCGTGGCCACGCCCACCACG	0.697											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	MET/VAL,MET/VAL	0,4402		0,0,2201	28	32	31		322,322	3.8	1	12		31	2,8590		0,2,4294	no	missense,missense	SPSB2	NM_001146316.1,NM_032641.3	21,21	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	108/264,108/264	6981744	2,12992	2201	4296	6497	SO:0001583	missense	84727			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.322G>A	12.37:g.6981744C>T	ENSP00000428338:p.Val108Met	638	B7Z4W1|D3DUT0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.V108M	ENST00000524270.1	37	c.322	CCDS8567.1	12	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850200	0.71719	0.0	2.33E-4	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.80909	-1.43;-1.43;-1.43	3.84	3.84	0.44239	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098289	0.38897	N	0.001534	D	0.91811	0.7409	H	0.94808	3.585	0.49582	D	0.9998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.93820	0.7118	10	0.87932	D	0	.	13.6347	0.62215	0.0:1.0:0.0:0.0	.	108;108	B7Z4W1;Q99619	.;SPSB2_HUMAN	M	108	ENSP00000430872:V108M;ENSP00000428338:V108M;ENSP00000431037:V108M	ENSP00000431037:V108M	V	-	1	0	SPSB2	6852005	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	5.871000	0.69628	2.122000	0.65172	0.563000	0.77884	GTG	SPSB2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.697	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB2	HGNC	protein_coding	OTTHUMT00000375721.1	C	NM_032641		6981744	-1	no_errors	ENST00000523102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6981744	C	T	6981744	3	4	97	1	0	0	0	0	1	0	0	0	15143	536	19	2	477	2	SPSB2	12	6981744	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	338	6981744	126870151	349	14073										
CD163	9332	genome.wustl.edu	37	chr12	7640557	7640557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgccacactgtaattccctgCatagaacgctggcagcttcc	8	14	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:7640557C>T	ENST00000359156.4	-	7	1749	c.1547G>A	c.(1546-1548)tGc>tAc	p.C516Y	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.C516Y|CD163_ENST00000432237.2_Missense_Mutation_p.C516Y|CD163_ENST00000541972.1_Missense_Mutation_p.C504Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	516	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATTCCCTGCATAGAACGCT	0.532																																																	0													89	76	80					12																	7640557		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1547G>A	12.37:g.7640557C>T	ENSP00000352071:p.Cys516Tyr		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.C516Y	ENST00000359156.4	37	c.1547	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806609	0.50421	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.23	5.23	0.72850	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.97043	0.9034	H	0.96889	3.9	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98196	1.0465	10	0.87932	D	0	.	16.6564	0.85229	0.0:1.0:0.0:0.0	.	516;516;516	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	516;504;516;516	ENSP00000352071:C516Y;ENSP00000444071:C504Y;ENSP00000379863:C516Y;ENSP00000403885:C516Y	ENSP00000352071:C516Y	C	-	2	0	CD163	7531824	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	7.782000	0.85680	2.606000	0.88127	0.655000	0.94253	TGC	CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.532	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416		7640557	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7640557	C	T	7640557	3	4	97	1	0	0	0	0	1	0	0	0	2972	710	25	4	1963	4	CD163	12	7640557	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	658813	7640557	126211338	350	14074										
PRB3	5544	genome.wustl.edu	37	chr12	11420837	11420837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccttctggctttcccggacGaggtgggggaccttgggact	15	11	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:11420837G>A	ENST00000279573.7	-	3	481	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	PRB3_ENST00000538488.1_Missense_Mutation_p.R116C|PRB3_ENST00000381842.3_Missense_Mutation_p.R116C|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	116	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637																																																	0													95	118	111					12																	11420837		1856	3995	5851	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.346C>T	12.37:g.11420837G>A	ENSP00000279573:p.Arg116Cys		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.R116C	ENST00000279573.7	37	c.346		12	.	.	.	.	.	.	.	.	.	.	.	3.548	-0.092319	0.07053	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05025	3.51;3.51	0.52	-1.04	0.10068	.	3.382280	0.02479	U	0.088292	T	0.03564	0.0102	.	.	.	0.09310	N	1	P	0.50066	0.931	B	0.29176	0.099	T	0.36016	-0.9765	9	0.59425	D	0.04	.	2.6117	0.04893	0.0:0.3112:0.3781:0.3107	.	116	Q04118	PRB3_HUMAN	C	116	ENSP00000371264:R116C;ENSP00000442626:R116C	ENSP00000279573:R116C	R	-	1	0	PRB3	11312104	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.195000	0.17155	-0.424000	0.07382	0.134000	0.15878	CGT	PRB3	-	NULL		0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420837	-1	no_errors	ENST00000381842	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11420837	G	A	11420837	3	1	97	1	0	0	0	0	1	0	0	0	12471	1058	37	1	591	1	PRB3	12	11420837	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3780280	11420837	122431058	351	14075										
PPFIBP1	8496	genome.wustl.edu	37	chr12	27809592	27809592	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acaactagaagaaaaggaatCtgaagtaaaaaggctacaag	9	5	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:27809592C>T	ENST00000318304.8	+	10	1116	c.833C>T	c.(832-834)tCt>tTt	p.S278F	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.S247F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.S125F|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.S247F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	278					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAAAGGAATCTGAAGTAAAA	0.318																																																	0													72	76	74					12																	27809592		2203	4299	6502	SO:0001583	missense	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.833C>T	12.37:g.27809592C>T	ENSP00000314724:p.Ser278Phe		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S278F	ENST00000318304.8	37	c.833	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948863	0.34377	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.33216	2.73;1.45;1.42;1.85;1.85;1.87	5.05	1.86	0.25419	.	0.247105	0.21134	U	0.079594	T	0.19485	0.0468	N	0.14661	0.345	0.21105	N	0.999782	B;B;P;B	0.39003	0.137;0.047;0.654;0.078	B;B;B;B	0.37304	0.139;0.049;0.246;0.106	T	0.12192	-1.0557	10	0.59425	D	0.04	-0.9883	14.2359	0.65927	0.0:0.558:0.442:0.0	.	125;278;247;247	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	F	249;247;106;125;278;247;247	ENSP00000445822:S247F;ENSP00000444304:S106F;ENSP00000445425:S125F;ENSP00000314724:S278F;ENSP00000443442:S247F;ENSP00000228425:S247F	ENSP00000228425:S247F	S	+	2	0	PPFIBP1	27700859	0.892000	0.30473	0.991000	0.47740	0.973000	0.67179	0.453000	0.21811	0.571000	0.29365	0.655000	0.94253	TCT	PPFIBP1	-	NULL		0.318	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	C	NM_003622		27809592	1	no_errors	ENST00000318304	ensembl	human	known	70_37	missense	SNP	0.998	T	T	27809592	C	T	27809592	3	4	97	1	0	0	0	0	1	0	0	0	12337	913	32	1	808	1	PPFIBP1	12	27809592	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	16388755	27809592	106042303	352	14076										
DENND5B	160518	genome.wustl.edu	37	chr12	31613205	31613205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagataagggacaggagcatCaagaaaatgtagcagagaag	13	5	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:31613205C>G	ENST00000389082.5	-	4	1279	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	DENND5B_ENST00000306833.6_Missense_Mutation_p.D374H|DENND5B_ENST00000354285.4_Missense_Mutation_p.D361H|DENND5B_ENST00000536562.1_Missense_Mutation_p.D374H|DENND5B_ENST00000545147.1_5'UTR	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	339	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAGGAGCATCAAGAAAATGT	0.428																																																	0													92	87	88					12																	31613205		1953	4153	6106	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1015G>C	12.37:g.31613205C>G	ENSP00000373734:p.Asp339His		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.D374H	ENST00000389082.5	37	c.1120	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565819	0.86439	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.59	4.59	0.56863	DENN (3);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D	0.89917	0.982;1.0;0.999;0.97;0.996	D;D;D;D;D	0.87578	0.911;0.998;0.966;0.916;0.96	T	0.00872	-1.1532	10	0.48119	T	0.1	-15.8017	17.9279	0.88989	0.0:1.0:0.0:0.0	.	374;261;361;339;374	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	H	339;374;374;361;291	ENSP00000373734:D339H;ENSP00000306482:D374H;ENSP00000444889:D374H;ENSP00000346238:D361H;ENSP00000442938:D291H	ENSP00000306482:D374H	D	-	1	0	DENND5B	31504472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.534000	0.85438	0.655000	0.94253	GAT	DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.428	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31613205	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31613205	C	G	31613205	3	3	97	1	0	0	0	0	1	0	0	0	4447	826	29	1	2881	1	DENND5B	12	31613205	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3803613	31613205	102238690	353	14077										
SLC38A1	81539	genome.wustl.edu	37	chr12	46591766	46591766	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aacaagttgataacaaccaaGagtatgcaggtaaccacggt	9	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:46591766G>C	ENST00000398637.5	-	15	1894	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	SLC38A1_ENST00000552197.1_Silent_p.L400L|SLC38A1_ENST00000439706.1_Silent_p.L400L|SLC38A1_ENST00000546893.1_Silent_p.L400L|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000549049.1_Silent_p.L400L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	400					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TAACAACCAAGAGTATGCAGG	0.373																																																	0													117	110	112					12																	46591766		1903	4127	6030	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1200C>G	12.37:g.46591766G>C			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	pfam_AA_transpt_TM	p.L400	ENST00000398637.5	37	c.1200	CCDS41774.1	12																																																																																			SLC38A1	-	pfam_AA_transpt_TM		0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	G			46591766	-1	no_errors	ENST00000398637	ensembl	human	known	70_37	silent	SNP	0.999	C	C	46591766	G	C	46591766	2	2	97	1	0	0	0	0	0	0	0	1	14631	929	33	1		1	SLC38A1	12	46591766	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	14978561	46591766	87260129	354	14078										
SLC38A4	55089	genome.wustl.edu	37	chr12	47186809	47186809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actttctccactgctgctctCatcatctggttcgatgttga	7	12	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:47186809C>T	ENST00000447411.1	-	2	252	c.46G>A	c.(46-48)Gag>Aag	p.E16K	SLC38A4_ENST00000266579.4_Missense_Mutation_p.E16K	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	16					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGCTGCTCTCATCATCTGGT	0.438																																																	0													224	196	205					12																	47186809		2203	4300	6503	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.46G>A	12.37:g.47186809C>T	ENSP00000389843:p.Glu16Lys		A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E16K	ENST00000447411.1	37	c.46	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533586	0.45073	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	T;T;T;T	0.24538	3.66;3.66;2.18;1.85	5.39	3.46	0.39613	.	2.130700	0.02557	N	0.096264	T	0.22126	0.0533	L	0.29908	0.895	0.37657	D	0.922611	B	0.06786	0.001	B	0.04013	0.001	T	0.14062	-1.0486	10	0.14656	T	0.56	-9.6828	11.5494	0.50713	0.0:0.7011:0.2258:0.0731	.	16	Q969I6	S38A4_HUMAN	K	16	ENSP00000389843:E16K;ENSP00000266579:E16K;ENSP00000450071:E16K;ENSP00000448543:E16K	ENSP00000266579:E16K	E	-	1	0	SLC38A4	45473076	0.995000	0.38212	0.870000	0.34147	0.966000	0.64601	3.213000	0.51153	2.535000	0.85469	0.591000	0.81541	GAG	SLC38A4	-	NULL		0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	C			47186809	-1	no_errors	ENST00000266579	ensembl	human	known	70_37	missense	SNP	0.906	T	T	47186809	C	T	47186809	3	4	97	1	0	0	0	0	1	0	0	0	14636	835	29	1	1657	1	SLC38A4	12	47186809	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	595043	47186809	86665086	355	14079										
RND1	27289	genome.wustl.edu	37	chr12	49254855	49254855	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggtctgttcgcaggtctgtCttgcagccaatgagcaaaac	11	10	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:49254855C>G	ENST00000309739.5	-	4	508	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	126					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCAGGTCTGTCTTGCAGCCAA	0.552																																																	0													105	94	97					12																	49254855		2203	4300	6503	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.378G>C	12.37:g.49254855C>G	ENSP00000308461:p.Lys126Asn		A8K9P7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K126N	ENST00000309739.5	37	c.378	CCDS8771.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377711	0.82682	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	D;D	0.87887	-2.31;-2.31	5.66	3.85	0.44370	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95726	0.8770	10	0.87932	D	0	-1.11	11.999	0.53220	0.0:0.8564:0.0:0.1436	.	126	Q92730	RND1_HUMAN	N	20;126	ENSP00000447059:K20N;ENSP00000308461:K126N	ENSP00000308461:K126N	K	-	3	2	RND1	47541122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	0.869000	0.35703	0.655000	0.94253	AAG	RND1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.552	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RND1	HGNC	protein_coding	OTTHUMT00000408915.1	C	NM_014470		49254855	-1	no_errors	ENST00000309739	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49254855	C	G	49254855	3	3	97	1	0	0	0	0	1	0	0	0	13449	912	32	1	328	1	RND1	12	49254855	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2068046	49254855	84597040	356	14080										
ACVR1B	91	genome.wustl.edu	37	chr12	52376575	52376575	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggaggaaggggaagagcaaGatttttattcccactgagta	14	5	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:52376575G>T	ENST00000257963.4	+	5	888				ACVR1B_ENST00000415850.2_Intron|ACVR1B_ENST00000542485.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R306I|ACVR1B_ENST00000426655.2_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGAAGAGCAAGATTTTTATTC	0.388																																																	0																																										SO:0001627	intron_variant	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.812-1208G>T	12.37:g.52376575G>T			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R306I	ENST00000257963.4	37	c.917	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107791	0.20714	.	.	ENSG00000135503	ENST00000541224	D	0.92397	-3.03	3.48	-4.07	0.03975	.	.	.	.	.	D	0.84660	0.5521	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.71262	-0.4645	8	0.72032	D	0.01	.	5.6106	0.17404	0.5921:0.1558:0.2521:0.0	.	306	P36896-4	.	I	306	ENSP00000442656:R306I	ENSP00000442656:R306I	R	+	2	0	ACVR1B	50662842	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.212000	0.02994	-0.871000	0.04042	0.644000	0.83932	AGA	ACVR1B	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	G	NM_020328		52376575	1	no_errors	ENST00000541224	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	52376575	G	T	52376575	1	4	97	0	1	0	0	0	0	0	0	0	221	942	33	3		3	ACVR1B	12	52376575	Intron	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3121720	52376575	81475320	357	14081										
KRT4	3851	genome.wustl.edu	37	chr12	53207817	53207817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgaagccccggggcccgcctCggacacactgctgtctggca	13	16	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:53207817C>G	ENST00000551956.1	-	1	518	c.26G>C	c.(25-27)cGa>cCa	p.R9P	KRT4_ENST00000293774.4_Missense_Mutation_p.R83P|KRT4_ENST00000458244.2_Missense_Mutation_p.R9P			P19013	K2C4_HUMAN	keratin 4	9	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGGCCCGCCTCGGACACACTG	0.642																																					Pancreas(190;284 2995 41444 45903)												0													43	50	48					12																	53207817		1962	4163	6125	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.26G>C	12.37:g.53207817C>G	ENSP00000448220:p.Arg9Pro		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R83P	ENST00000551956.1	37	c.248	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294989	0.60086	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.83591	-1.56;-1.6;-1.74	4.58	4.58	0.56647	.	0.000000	0.41097	D	0.000944	D	0.89083	0.6614	M	0.77486	2.375	0.37144	D	0.901837	.	.	.	.	.	.	D	0.89985	0.4103	8	0.40728	T	0.16	.	16.4086	0.83699	0.0:1.0:0.0:0.0	.	.	.	.	P	9;83;9	ENSP00000448220:R9P;ENSP00000293774:R83P;ENSP00000387904:R9P	ENSP00000293774:R83P	R	-	2	0	KRT4	51494084	0.000000	0.05858	0.345000	0.25642	0.733000	0.41908	-0.181000	0.09740	2.833000	0.97629	0.650000	0.86243	CGA	KRT4	-	NULL		0.642	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	C	NM_002272		53207817	-1	no_errors	ENST00000293774	ensembl	human	known	70_37	missense	SNP	0.817	G	G	53207817	C	G	53207817	3	3	97	1	0	0	0	0	1	0	0	0	8497	884	31	1	1572	1	KRT4	12	53207817	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	831242	53207817	80644078	358	14082										
STAT2	6773	genome.wustl.edu	37	chr12	56744663	56744663	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcattgccttcctggagtctCaccagcagcctgggggaagg	13	12	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:56744663C>T	ENST00000314128.4	-	11	1067	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Silent_p.V344V|STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000418572.2_Silent_p.V344V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	348					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGGAGTCTCACCAGCAGCC	0.527																																																	0													98	93	95					12																	56744663		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1044G>A	12.37:g.56744663C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V348	ENST00000314128.4	37	c.1044	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56744663	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.993	T	T	56744663	C	T	56744663	2	4	97	1	0	0	0	0	0	0	0	1	15295	813	29	1		1	STAT2	12	56744663	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3536846	56744663	77107232	359	14083										
STAT2	6773	genome.wustl.edu	37	chr12	56745189	56745189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcagtcccttcagctccttCagcagctgcctcaggtgaaa	8	15	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:56745189C>T	ENST00000314128.4	-	9	851	c.828G>A	c.(826-828)ctG>ctA	p.L276L	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Silent_p.L272L|STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000418572.2_Silent_p.L272L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	276					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCAGCTCCTTCAGCAGCTGCC	0.527																																																	0													198	175	183					12																	56745189		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.828G>A	12.37:g.56745189C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L276	ENST00000314128.4	37	c.828	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56745189	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.997	T	T	56745189	C	T	56745189	2	4	97	1	0	0	0	0	0	0	0	1	15295	813	29	1		1	STAT2	12	56745189	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	526	56745189	77106706	360	14084										
TSFM	10677	genome.wustl.edu	37	chr12	58190249	58190249	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actaagatgctgtcccagccGtatttgctggatccctccat	8	13	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:58190249G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000543727.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000350762.5_Silent_p.P247P|TSFM_ENST00000454289.3_Silent_p.P287P|TSFM_ENST00000323833.8_Silent_p.P308P	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGTCCCAGCCGTATTTGCTGG	0.592																																																	0													66	57	60					12																	58190249		2203	4300	6503	SO:0001628	intergenic_variant	10102			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190249G>A			B2RAU7|Q2NKM9	Silent	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N	p.P308	ENST00000257861.3	37	c.924	CCDS8959.1	12																																																																																			TSFM	-	pfam_Transl_elong_EFTs/EF1B_dimer		0.592	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409276.1	G	NM_006576		58190249	1	no_errors	ENST00000323833	ensembl	human	known	70_37	silent	SNP	0.000	A	A	58190249	G	A	58190249	1	1	97	0	1	0	0	0	0	0	0	0	16646	1132	40	2		2	TSFM	12	58190249	IGR	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1445060	58190249	75661646	361	14085										
LRIG3	121227	genome.wustl.edu	37	chr12	59266440	59266440	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acaaatgtgattttcttcctGaaaatctgtcctttctttcc	4	10	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:59266440G>A	ENST00000320743.3	-	19	3560	c.3274C>T	c.(3274-3276)Cag>Tag	p.Q1092*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.Q1032*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1092					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTTCTTCCTGAAAATCTGTC	0.403			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													80	87	85					12																	59266440		2203	4300	6503	SO:0001587	stop_gained	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3274C>T	12.37:g.59266440G>A	ENSP00000326759:p.Gln1092*		Q6UXL7|Q8NC72	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q1092*	ENST00000320743.3	37	c.3274	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.752594	0.98471	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	.	.	.	5.68	5.68	0.88126	.	0.232101	0.22322	N	0.061599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5897	0.50939	0.0:0.1249:0.7304:0.1448	.	.	.	.	X	1032;1092	.	.	Q	-	1	0	LRIG3	57552707	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.063000	0.49978	2.676000	0.91093	0.563000	0.77884	CAG	LRIG3	-	NULL		0.403	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	G	NM_153377		59266440	-1	no_errors	ENST00000320743	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	59266440	G	A	59266440	4	1	97	1	0	0	0	0	0	1	0	0	8969	1299	45	1	89	1	LRIG3	12	59266440	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1076191	59266440	74585455	362	14086										
BEST3	144453	genome.wustl.edu	37	chr12	70048688	70048688	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcctagaacttggtggcactCatttgggtgattcctcagtt	10	9	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:70048688C>T	ENST00000330891.5	-	10	2232	c.2006G>A	c.(2005-2007)tGa>tAa	p.*669*	BEST3_ENST00000553096.1_Silent_p.*563*|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Silent_p.*456*	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	0					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGGTGGCACTCATTTGGGTGA	0.448																																																	0													124	117	119					12																	70048688		1919	4135	6054	SO:0001819	synonymous_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.2006G>A	12.37:g.70048688C>T			B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	pfam_Bestrophin/UPF0187	p.*669	ENST00000330891.5	37	c.2006	CCDS8992.2	12																																																																																			BEST3	-	NULL		0.448	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70048688	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	silent	SNP	0.015	T	T	70048688	C	T	70048688	2	4	97	1	0	0	0	0	0	0	0	1	1407	837	29	1		1	BEST3	12	70048688	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	10782248	70048688	63803207	363	14087										
CCDC38	120935	genome.wustl.edu	37	chr12	96275268	96275268	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atataatctggttaccaaatCaacgtccatttcatcatcta	3	10	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:96275268C>T	ENST00000344280.3	-	11	1542	c.985G>A	c.(985-987)Gat>Aat	p.D329N	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	329										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTACCAAATCAACGTCCATT	0.279																																																	0													75	72	73					12																	96275268		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.985G>A	12.37:g.96275268C>T	ENSP00000345470:p.Asp329Asn		Q8N835	Missense_Mutation	SNP	NULL	p.D329N	ENST00000344280.3	37	c.985	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786948	0.31593	.	.	ENSG00000165972	ENST00000344280	T	0.44482	0.92	5.15	4.26	0.50523	.	0.451624	0.25458	N	0.030529	T	0.47710	0.1460	M	0.86178	2.8	0.21822	N	0.999521	P	0.38922	0.651	B	0.40901	0.343	T	0.43196	-0.9406	10	0.27785	T	0.31	-9.0649	9.6559	0.39925	0.0:0.9059:0.0:0.0941	.	329	Q502W7	CCD38_HUMAN	N	329	ENSP00000345470:D329N	ENSP00000345470:D329N	D	-	1	0	CCDC38	94799399	0.048000	0.20356	0.020000	0.16555	0.016000	0.09150	1.982000	0.40638	1.399000	0.46721	0.591000	0.81541	GAT	CCDC38	-	NULL		0.279	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	C	NM_182496		96275268	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.023	T	T	96275268	C	T	96275268	3	4	97	1	0	0	0	0	1	0	0	0	2815	826	29	1	730	1	CCDC38	12	96275268	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	26226580	96275268	37576627	364	14088										
CDK17	5128	genome.wustl.edu	37	chr12	96679840	96679840	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgggtgcgtggttaattaGaggctgtggtttatattttg	14	4	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:96679840G>C	ENST00000261211.3	-	13	1906	c.1303C>G	c.(1303-1305)Cta>Gta	p.L435V	CDK17_ENST00000543119.2_Missense_Mutation_p.L435V|CDK17_ENST00000542666.1_Missense_Mutation_p.L382V	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGGTTAATTAGAGGCTGTGGT	0.363																																																	0													165	184	178					12																	96679840		2203	4300	6503	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1303C>G	12.37:g.96679840G>C	ENSP00000261211:p.Leu435Val		A8K1U6|B2RCQ2|Q8NEB8	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.L435V	ENST00000261211.3	37	c.1303	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168432	0.38315	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.46451	0.87;0.87;0.87	5.72	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146679	0.46442	D	0.000299	T	0.45637	0.1352	M	0.85542	2.76	0.42572	D	0.99318	B;B	0.14805	0.011;0.011	B;B	0.25140	0.058;0.052	T	0.52888	-0.8515	10	0.72032	D	0.01	-9.1628	5.7356	0.18065	0.2525:0.1457:0.6018:0.0	.	435;435	A8K1U6;Q00537	.;CDK17_HUMAN	V	435;435;382	ENSP00000261211:L435V;ENSP00000444459:L435V;ENSP00000442926:L382V	ENSP00000261211:L435V	L	-	1	2	CDK17	95203971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.695000	0.37763	1.435000	0.47434	0.650000	0.86243	CTA	CDK17	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.363	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	G	NM_002595		96679840	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	missense	SNP	0.999	C	C	96679840	G	C	96679840	3	2	97	1	0	0	0	0	1	0	0	0	3138	933	33	1	326	1	CDK17	12	96679840	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	404572	96679840	37172055	365	14089										
NEDD1	121441	genome.wustl.edu	37	chr12	97330437	97330437	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctctaactgcggtagatttCatgcctgatggagccacttt	9	11	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:97330437C>T	ENST00000266742.4	+	8	1107	c.768C>T	c.(766-768)ttC>ttT	p.F256F	NEDD1_ENST00000557644.1_Silent_p.F263F|NEDD1_ENST00000411739.2_Silent_p.F167F|NEDD1_ENST00000457368.2_Silent_p.F167F|NEDD1_ENST00000429527.2_Silent_p.F256F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	256					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CGGTAGATTTCATGCCTGATG	0.403																																																	0													69	67	68					12																	97330437		2203	4299	6502	SO:0001819	synonymous_variant	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.768C>T	12.37:g.97330437C>T			B0AZN0|B4E145|G3V3F1|Q8NA30	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F263	ENST00000266742.4	37	c.789	CCDS9063.1	12																																																																																			NEDD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.403	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	HGNC	protein_coding	OTTHUMT00000409792.1	C			97330437	1	no_errors	ENST00000557644	ensembl	human	known	70_37	silent	SNP	1.000	T	T	97330437	C	T	97330437	2	4	97	1	0	0	0	0	0	0	0	1	10333	825	29	1		1	NEDD1	12	97330437	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	650597	97330437	36521458	366	14090										
CKAP4	10970	genome.wustl.edu	37	chr12	106633120	106633120	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggagtgattccacggtgctGgggagctcgcccacactcct	13	13	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:106633120G>T	ENST00000378026.4	-	2	1627	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	497						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACGGTGCTGGGGAGCTCGC	0.657																																																	0													52	50	51					12																	106633120		2203	4300	6503	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1491C>A	12.37:g.106633120G>T			Q504S5|Q53ES6	Silent	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.P497	ENST00000378026.4	37	c.1491	CCDS9103.1	12																																																																																			CKAP4	-	superfamily_STAT_TF_coiled-coil		0.657	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	G			106633120	-1	no_errors	ENST00000378026	ensembl	human	known	70_37	silent	SNP	0.825	T	T	106633120	G	T	106633120	2	4	97	1	0	0	0	0	0	0	0	1	3449	1335	47	4		4	CKAP4	12	106633120	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	9302683	106633120	27218775	367	14091										
TRPV4	59341	genome.wustl.edu	37	chr12	110221470	110221470	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccacttgcgggggtaaccctGctggtggccatcgcagcggg	16	13	0	0	rs144477274		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:110221470G>A	ENST00000418703.2	-	15	2666	c.2572C>T	c.(2572-2574)Cag>Tag	p.Q858*	TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q858*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q798*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.Q811*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.Q811*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q824*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.Q751*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q798*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	858					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGTAACCCTGCTGGTGGCCA	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		17007	0		0	False		,,,				2504	0																0								G	stop/GLN,stop/GLN,stop/GLN,stop/GLN,stop/GLN	1,4405	2.1+/-5.4	0,1,2202	60	52	55		2431,2470,2251,2572,2392	5.1	1	12	dbSNP_134	55	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	811/825,824/838,751/765,858/872,798/812	110221470	1,13005	2203	4300	6503	SO:0001587	stop_gained	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2572C>T	12.37:g.110221470G>A	ENSP00000406191:p.Gln858*		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.Q858*	ENST00000418703.2	37	c.2572	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.669652	0.97751	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	.	.	.	5.11	5.11	0.69529	.	0.098661	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-2.6765	17.0691	0.86568	0.0:0.0:1.0:0.0	.	.	.	.	X	858;858;811;798;751;798;811;824	.	ENSP00000261740:Q858X	Q	-	1	0	TRPV4	108705853	0.958000	0.32768	0.998000	0.56505	0.974000	0.67602	4.295000	0.59049	2.369000	0.80426	0.511000	0.50034	CAG	TRPV4	-	NULL		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110221470	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	nonsense	SNP	0.901	A	A	110221470	G	A	110221470	4	1	97	1	0	0	0	0	0	1	0	0	16629	1328	46	4	47	4	TRPV4	12	110221470	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3588350	110221470	23630425	368	14092										
OAS2	4939	genome.wustl.edu	37	chr12	113448279	113448279	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgaataataattctaaaaGaaacttctagagatcatctg	5	7	4	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:113448279G>C	ENST00000342315.4	+	11	2364	c.2150G>C	c.(2149-2151)aGa>aCa	p.R717T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	717					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AATTCTAAAAGAAACTTCTAG	0.428																																					Pancreas(199;709 2232 18410 33584 35052)												0													133	143	139					12																	113448279		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2150G>C	12.37:g.113448279G>C	ENSP00000342278:p.Arg717Thr		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R717T	ENST00000342315.4	37	c.2150	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247804	0.39697	.	.	ENSG00000111335	ENST00000342315	T	0.08102	3.13	3.52	1.58	0.23477	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.33528	0.416	B	0.25506	0.061	T	0.39396	-0.9616	9	0.87932	D	0	-29.2193	4.8665	0.13611	0.1228:0.2188:0.6583:0.0	.	717	P29728	OAS2_HUMAN	T	717	ENSP00000342278:R717T	ENSP00000342278:R717T	R	+	2	0	OAS2	111932662	0.059000	0.20769	0.005000	0.12908	0.110000	0.19582	1.803000	0.38863	0.431000	0.26258	0.655000	0.94253	AGA	OAS2	-	NULL		0.428	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113448279	1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.007	C	C	113448279	G	C	113448279	3	2	97	1	0	0	0	0	1	0	0	0	10824	942	33	1	2278	1	OAS2	12	113448279	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3226809	113448279	20403616	369	14093										
GATC	283459	genome.wustl.edu	37	chr12	120894893	120894893	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgtagatgtctatacctgaGatccgacaatgtggtagaag	11	6	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:120894893G>C	ENST00000551806.1	+	4	363	c.363G>C	c.(361-363)gaG>gaC	p.E121D	GATC_ENST00000551765.1_Missense_Mutation_p.R90T																							CTATACCTGAGATCCGACAAT	0.512											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122	101	108					12																	120894893		2203	4300	6503	SO:0001583	missense	283459																														ENST00000551806.1:c.363G>C	12.37:g.120894893G>C	ENSP00000450281:p.Glu121Asp	1507		Missense_Mutation	SNP	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.R90T	ENST00000551806.1	37	c.269		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.955943|3.955943	0.73902|0.73902	.|.	.|.	ENSG00000111780|ENSG00000257218	ENST00000551806|ENST00000551765;ENST00000229384	.|T	.|0.60171	.|0.21	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79347|0.79347	0.4430|0.4430	M|M	0.90145|0.90145	3.09|3.09	0.47819|0.47819	D|D	0.999523|0.999523	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.83343|0.83343	-0.0007|-0.0007	5|10	.|0.87932	.|D	.|0	-7.8243|-7.8243	13.1322|13.1322	0.59389|0.59389	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	.|90	.|O43716	.|GATC_HUMAN	D|T	121|90;13	.|ENSP00000446872:R90T	.|ENSP00000229384:R13T	E|R	+|+	3|2	2|0	GATC|AL021546.1	119379276|119379276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.255000|5.255000	0.65462|0.65462	2.534000|2.534000	0.85438|0.85438	0.655000|0.655000	0.94253|0.94253	GAG|AGA	GATC	-	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu		0.512	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	GATC	HGNC	protein_coding	OTTHUMT00000403635.1	G			120894893	1	no_errors	ENST00000551765	ensembl	human	known	70_37	missense	SNP	0.999	C	C	120894893	G	C	120894893	3	2	97	1	0	0	0	0	1	0	0	0	6281	942	33	1	279	1	GATC	12	120894893	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7446614	120894893	12957002	370	14094										
PSMD9	5715	genome.wustl.edu	37	chr12	122326835	122326835	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgactgtcagcgacgtccagGagctgatgcggcgcaaggag	16	10	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:122326835G>C	ENST00000541212.1	+	1	199	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	PSMD9_ENST00000261817.2_Missense_Mutation_p.E25Q|RP11-87C12.2_ENST00000546333.1_Missense_Mutation_p.E25Q|PSMD9_ENST00000542602.1_Missense_Mutation_p.E25Q|PSMD9_ENST00000340175.5_Missense_Mutation_p.E25Q			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGACGTCCAGGAGCTGATGCG	0.642											OREG0022209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													38	23	28					12																	122326835		2200	4297	6497	SO:0001583	missense	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.73G>C	12.37:g.122326835G>C	ENSP00000440485:p.Glu25Gln	1518	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.E25Q	ENST00000541212.1	37	c.73	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377486	0.42105	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000542602	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.72	4.72	0.59763	.	0.543715	0.20930	N	0.083111	T	0.10337	0.0253	N	0.14661	0.345	0.26763	N	0.969968	B;B	0.17038	0.02;0.002	B;B	0.19946	0.027;0.003	T	0.20538	-1.0272	10	0.15952	T	0.53	-26.3743	12.9696	0.58505	0.0:0.1628:0.8372:0.0	.	25;25	F8W7V8;O00233	.;PSMD9_HUMAN	Q	25	ENSP00000440485:E25Q;ENSP00000340847:E25Q;ENSP00000261817:E25Q;ENSP00000443081:E25Q;ENSP00000443772:E25Q	ENSP00000261817:E25Q	E	+	1	0	RP11-87C12.2;PSMD9	120811218	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.784000	0.38674	2.607000	0.88179	0.561000	0.74099	GAG	PSMD9	-	NULL		0.642	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	G	NM_002813		122326835	1	no_errors	ENST00000541212	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122326835	G	C	122326835	3	2	97	1	0	0	0	0	1	0	0	0	12732	1175	41	1	75	1	PSMD9	12	122326835	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1431942	122326835	11525060	371	14095										
LRRC43	254050	genome.wustl.edu	37	chr12	122677437	122677437	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggtggaggagtcaggagagtCggagctgtctgtcatctcgg	18	7	4	1	rs199748854		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:122677437C>G	ENST00000339777.4	+	7	1263	c.1235C>G	c.(1234-1236)tCg>tGg	p.S412W	LRRC43_ENST00000425921.1_Missense_Mutation_p.S227W	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	412	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCAGGAGAGTCGGAGCTGTCT	0.567																																																	0													92	98	96					12																	122677437		2102	4245	6347	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1235C>G	12.37:g.122677437C>G	ENSP00000344233:p.Ser412Trp		Q6ZVT9	Missense_Mutation	SNP	NULL	p.S412W	ENST00000339777.4	37	c.1235	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555592	0.45487	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.57907	0.37;0.81	4.52	-0.0437	0.13858	.	4.901210	0.00559	N	0.000279	T	0.54127	0.1839	L	0.40543	1.245	0.09310	N	1	D	0.62365	0.991	P	0.54889	0.763	T	0.37150	-0.9718	10	0.72032	D	0.01	0.1765	1.9584	0.03381	0.166:0.4938:0.181:0.1592	.	412	Q8N309	LRC43_HUMAN	W	412;283;227	ENSP00000344233:S412W;ENSP00000416628:S227W	ENSP00000289014:S283W	S	+	2	0	LRRC43	121243390	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.120000	0.15647	-0.008000	0.14320	0.655000	0.94253	TCG	LRRC43	-	NULL		0.567	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	C	NM_152759		122677437	1	no_errors	ENST00000339777	ensembl	human	known	70_37	missense	SNP	0.000	G	G	122677437	C	G	122677437	3	3	97	1	0	0	0	0	1	0	0	0	9024	893	31	1	1261	1	LRRC43	12	122677437	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	350602	122677437	11174458	372	14096										
KNTC1	9735	genome.wustl.edu	37	chr12	123062283	123062283	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agctgagaaaactgcagaaaGagtcatcatatgggcacgac	11	8	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:123062283G>C	ENST00000333479.7	+	31	2963	c.2786G>C	c.(2785-2787)aGa>aCa	p.R929T	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	929					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCAGAAAGAGTCATCATA	0.388																																																	0													93	90	91					12																	123062283		1842	4099	5941	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2786G>C	12.37:g.123062283G>C	ENSP00000328236:p.Arg929Thr		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R929T	ENST00000333479.7	37	c.2786	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843995	0.91197	.	.	ENSG00000184445	ENST00000333479	T	0.15834	2.39	5.84	5.84	0.93424	.	0.050970	0.85682	D	0.000000	T	0.43366	0.1244	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14337	-1.0476	10	0.72032	D	0.01	-23.5777	20.1346	0.98019	0.0:0.0:1.0:0.0	.	929	P50748	KNTC1_HUMAN	T	929	ENSP00000328236:R929T	ENSP00000328236:R929T	R	+	2	0	KNTC1	121628236	1.000000	0.71417	0.928000	0.36995	0.992000	0.81027	7.558000	0.82253	2.765000	0.95021	0.655000	0.94253	AGA	KNTC1	-	NULL		0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123062283	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.995	C	C	123062283	G	C	123062283	3	2	97	1	0	0	0	0	1	0	0	0	8448	942	33	1	2904	1	KNTC1	12	123062283	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	384846	123062283	10789612	373	14097										
EP400	57634	genome.wustl.edu	37	chr12	132446159	132446159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgccgtgcccccaggcctttCcagcctcccactcacgtctg	8	20	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:132446159C>G	ENST00000333577.4	+	2	1104	c.995C>G	c.(994-996)tCc>tGc	p.S332C	EP400_ENST00000389561.2_Missense_Mutation_p.S332C|EP400_ENST00000330386.6_Missense_Mutation_p.S332C|EP400_ENST00000389562.2_Missense_Mutation_p.S332C|EP400_ENST00000332482.4_Missense_Mutation_p.S332C			Q96L91	EP400_HUMAN	E1A binding protein p400	332					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGCCTTTCCAGCCTCCCA	0.662																																																	0													9	8	8					12																	132446159		2153	4210	6363	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.995C>G	12.37:g.132446159C>G	ENSP00000333602:p.Ser332Cys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S332C	ENST00000333577.4	37	c.995		12	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721773	0.30503	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92048	-2.91;-2.96;-2.96;-2.95;-2.96	5.58	4.67	0.58626	.	0.239676	0.43579	N	0.000546	D	0.95456	0.8524	M	0.71581	2.175	0.35029	D	0.758571	B;B;B;D;B	0.89917	0.023;0.023;0.023;1.0;0.102	B;B;B;D;B	0.72075	0.023;0.023;0.023;0.976;0.035	D	0.98871	1.0766	10	0.72032	D	0.01	.	16.2267	0.82300	0.0:0.8668:0.1332:0.0	.	332;332;332;332;332	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	C	332	ENSP00000333602:S332C;ENSP00000374212:S332C;ENSP00000374213:S332C;ENSP00000331737:S332C;ENSP00000330620:S332C	ENSP00000330620:S332C	S	+	2	0	EP400	131012112	0.999000	0.42202	0.999000	0.59377	0.923000	0.55619	4.620000	0.61226	1.303000	0.44873	0.561000	0.74099	TCC	EP400	-	NULL		0.662	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132446159	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	132446159	C	G	132446159	3	3	97	1	0	0	0	0	1	0	0	0	5161	855	30	1	997	1	EP400	12	132446159	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9383876	132446159	1405736	374	14098										
P2RX2	22953	genome.wustl.edu	37	chr12	133197112	133197112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacctctactgccccatcttCaagctgggctttatcgtgga	9	13	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:133197112C>G	ENST00000389110.3	+	7	754	c.717C>G	c.(715-717)ttC>ttG	p.F239L	P2RX2_ENST00000343948.4_Missense_Mutation_p.F239L|P2RX2_ENST00000449132.2_Missense_Mutation_p.Q204E|P2RX2_ENST00000348800.5_Missense_Mutation_p.F239L|P2RX2_ENST00000351222.4_Missense_Mutation_p.F147L|P2RX2_ENST00000350048.5_Missense_Mutation_p.F215L|P2RX2_ENST00000352418.4_Missense_Mutation_p.F167L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	239					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCCCCATCTTCAAGCTGGGCT	0.657																																																	0													71	66	68					12																	133197112		2203	4300	6503	SO:0001583	missense	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.717C>G	12.37:g.133197112C>G	ENSP00000373762:p.Phe239Leu		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.F239L	ENST00000389110.3	37	c.717	CCDS31931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.831376|4.831376	0.91036|0.91036	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800|ENST00000449132	T;T;T;T;T;T|T	0.08896|0.09538	3.04;3.04;3.04;3.04;3.04;3.04|2.97	5.58|5.58	4.5|4.5	0.54988|0.54988	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.16342|0.16342	0.0393|0.0393	M|M	0.69523|0.69523	2.12|2.12	0.54753|0.54753	D|D	0.999989|0.999989	P;D;D;P;P;P;P|B	0.89917|0.10296	0.858;0.977;1.0;0.523;0.846;0.858;0.628|0.003	P;P;D;B;P;P;B|B	0.85130|0.04013	0.468;0.622;0.997;0.134;0.487;0.468;0.225|0.001	T|T	0.02736|0.02736	-1.1117|-1.1117	10|9	0.59425|0.87932	D|D	0.04|0	-35.5765|-35.5765	15.0561|15.0561	0.71915|0.71915	0.0:0.9189:0.0:0.0811|0.0:0.9189:0.0:0.0811	.|.	239;147;167;215;239;239;239|204	Q32MC3;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|Q9UBL9-7	.;.;.;.;.;P2RX2_HUMAN;.|.	L|E	239;239;167;215;147;239|204	ENSP00000373762:F239L;ENSP00000343339:F239L;ENSP00000341419:F167L;ENSP00000343904:F215L;ENSP00000344502:F147L;ENSP00000345095:F239L|ENSP00000405531:Q204E	ENSP00000343339:F239L|ENSP00000405531:Q204E	F|Q	+|+	3|1	2|0	P2RX2|P2RX2	131707185|131707185	0.027000|0.027000	0.19231|0.19231	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	0.389000|0.389000	0.20751|0.20751	2.637000|2.637000	0.89404|0.89404	0.555000|0.555000	0.69702|0.69702	TTC|CAA	P2RX2	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.657	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	C			133197112	1	no_errors	ENST00000343948	ensembl	human	known	70_37	missense	SNP	1.000	G	G	133197112	C	G	133197112	3	3	97	1	0	0	0	0	1	0	0	0	11364	825	29	1	743	1	P2RX2	12	133197112	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	750953	133197112	654783	375	14099										
FLT3	2322	genome.wustl.edu	37	chr13	28608102	28608102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgttgcgttcatcacttttcCaaaagcacctgatcctagta	6	11	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:28608102C>T	ENST00000241453.7	-	15	1945	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	FLT3_ENST00000537084.1_Missense_Mutation_p.G622R|FLT3_ENST00000380982.4_Missense_Mutation_p.G622R	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	622	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCACTTTTCCAAAAGCACCT	0.413			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													267	243	251					13																	28608102		2203	4300	6503	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1864G>A	13.37:g.28608102C>T	ENSP00000241453:p.Gly622Arg		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G622R	ENST00000241453.7	37	c.1864	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766441	0.90020	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.95103	-3.61;-3.61;-3.61	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.98178	0.9398	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.98528	1.0626	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	622;622	P36888-2;P36888	.;FLT3_HUMAN	R	622	ENSP00000241453:G622R;ENSP00000370369:G622R;ENSP00000438139:G622R	ENSP00000241453:G622R	G	-	1	0	FLT3	27506102	1.000000	0.71417	0.981000	0.43875	0.760000	0.43138	7.183000	0.77697	2.814000	0.96858	0.655000	0.94253	GGA	FLT3	-	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,pfscan_Prot_kinase_cat_dom		0.413	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	C			28608102	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28608102	C	T	28608102	3	4	97	1	0	0	0	0	1	0	0	0	5960	603	21	4	1157	4	FLT3	13	28608102	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		28608102	86561776	376	14100										
MTUS2	23281	genome.wustl.edu	37	chr13	29599166	29599166	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcagagggaactcaatgaaGagcacacagtggagagaggc	14	7	2	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:29599166G>A	ENST00000431530.3	+	1	419	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	111						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTCAATGAAGAGCACACAGT	0.507																																																	0													83	81	82					13																	29599166		1992	4166	6158	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.361G>A	13.37:g.29599166G>A	ENSP00000392057:p.Glu121Lys		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E121K	ENST00000431530.3	37	c.361	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	14.43	2.534118	0.45073	.	.	ENSG00000132938	ENST00000431530	T	0.18016	2.24	5.37	4.52	0.55395	.	0.507476	0.17756	N	0.163057	T	0.17023	0.0409	L	0.57536	1.79	0.22292	N	0.999225	B	0.23806	0.091	B	0.19946	0.027	T	0.15578	-1.0432	9	.	.	.	.	8.7178	0.34423	0.0802:0.1518:0.768:0.0	.	111	Q5JR59	MTUS2_HUMAN	K	121	ENSP00000392057:E121K	.	E	+	1	0	MTUS2	28497166	0.771000	0.28555	0.028000	0.17463	0.015000	0.08874	1.788000	0.38714	1.252000	0.44001	0.563000	0.77884	GAG	MTUS2	-	NULL		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	G	XM_166270		29599166	1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.031	A	A	29599166	G	A	29599166	3	1	97	1	0	0	0	0	1	0	0	0	9989	943	33	1	363	1	MTUS2	13	29599166	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	991064	29599166	85570712	377	14101										
FRY	10129	genome.wustl.edu	37	chr13	32805362	32805362	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagacatcacacctaaaaatCaaaattcaaagagtgctgaa	5	8	3	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:32805362C>G	ENST00000380250.3	+	41	5948	c.5452C>G	c.(5452-5454)Caa>Gaa	p.Q1818E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1818						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTAAAAATCAAAATTCAAA	0.333																																																	0													159	142	147					13																	32805362		1869	4099	5968	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5452C>G	13.37:g.32805362C>G	ENSP00000369600:p.Gln1818Glu		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1818E	ENST00000380250.3	37	c.5452	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473626	0.63737	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21031	2.03	5.76	5.76	0.90799	.	0.215022	0.42053	D	0.000778	T	0.17874	0.0429	N	0.22421	0.69	0.80722	D	1	B	0.25351	0.124	B	0.34346	0.18	T	0.03231	-1.1058	10	0.02654	T	1	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	1818	Q5TBA9	FRY_HUMAN	E	1818;655	ENSP00000369600:Q1818E	ENSP00000369600:Q1818E	Q	+	1	0	FRY	31703362	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.484000	0.81180	2.713000	0.92767	0.585000	0.79938	CAA	FRY	-	NULL		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32805362	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32805362	C	G	32805362	3	3	97	1	0	0	0	0	1	0	0	0	6081	827	29	1	5614	1	FRY	13	32805362	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3206196	32805362	82364516	378	14102										
NBEA	26960	genome.wustl.edu	37	chr13	35736037	35736037	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcctgagtttaaatggtctCcaatgcaccagcggcttctc	8	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:35736037C>G	ENST00000400445.3	+	23	4546	c.4012C>G	c.(4012-4014)Cca>Gca	p.P1338A	NBEA_ENST00000310336.4_Missense_Mutation_p.P1338A|NBEA_ENST00000540320.1_Missense_Mutation_p.P1338A|NBEA_ENST00000379939.2_Missense_Mutation_p.P1338A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1338					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAATGGTCTCCAATGCACCA	0.398																																																	0													80	77	78					13																	35736037		1925	4125	6050	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4012C>G	13.37:g.35736037C>G	ENSP00000383295:p.Pro1338Ala		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.P1338A	ENST00000400445.3	37	c.4012	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	7.479	0.648351	0.14516	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.82	3.96	0.45880	.	0.220091	0.39544	N	0.001334	T	0.34978	0.0916	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10019	-1.0648	10	0.15066	T	0.55	.	15.2475	0.73517	0.0:0.8585:0.1415:0.0	.	1338;1338	Q8NFP9;Q5T321	NBEA_HUMAN;.	A	1338	ENSP00000440951:P1338A;ENSP00000383295:P1338A;ENSP00000369271:P1338A;ENSP00000308534:P1338A	ENSP00000308534:P1338A	P	+	1	0	NBEA	34634037	0.805000	0.28982	0.990000	0.47175	0.998000	0.95712	2.092000	0.41700	1.128000	0.42052	0.591000	0.81541	CCA	NBEA	-	NULL		0.398	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35736037	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	0.992	G	G	35736037	C	G	35736037	3	3	97	1	0	0	0	0	1	0	0	0	10210	855	30	1	4102	1	NBEA	13	35736037	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2930675	35736037	79433841	379	14103										
DNAJC15	29103	genome.wustl.edu	37	chr13	43597830	43597830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgctgagtacttgcagccctCggccaaacggccagacgccg	12	16	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:43597830C>T	ENST00000379221.2	+	1	492	c.68C>T	c.(67-69)tCg>tTg	p.S23L	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	23					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTGCAGCCCTCGGCCAAACGG	0.662																																																	0													27	27	27					13																	43597830		2203	4299	6502	SO:0001583	missense	29103			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.68C>T	13.37:g.43597830C>T	ENSP00000368523:p.Ser23Leu		B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.S23L	ENST00000379221.2	37	c.68	CCDS9388.1	13	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978215	0.34942	.	.	ENSG00000120675	ENST00000379221	T	0.44482	0.92	4.53	3.67	0.42095	.	1.126430	0.06762	N	0.782033	T	0.37839	0.1018	L	0.50333	1.59	0.09310	N	1	B	0.28880	0.226	B	0.17098	0.017	T	0.24870	-1.0148	10	0.40728	T	0.16	-13.8258	9.6692	0.40002	0.2078:0.7921:0.0:0.0	.	23	Q9Y5T4	DJC15_HUMAN	L	23	ENSP00000368523:S23L	ENSP00000368523:S23L	S	+	2	0	DNAJC15	42495830	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	1.033000	0.30191	1.100000	0.41517	0.655000	0.94253	TCG	DNAJC15	-	NULL		0.662	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC15	HGNC	protein_coding	OTTHUMT00000044709.2	C	NM_013238		43597830	1	no_errors	ENST00000379221	ensembl	human	known	70_37	missense	SNP	0.002	T	T	43597830	C	T	43597830	3	4	97	1	0	0	0	0	1	0	0	0	4644	893	31	1	70	1	DNAJC15	13	43597830	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7861793	43597830	71572048	380	14104										
KCTD4	386618	genome.wustl.edu	37	chr13	45768695	45768695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttctcttctgtttattttaCgctccattttttgaagatgc	5	8	2	2	rs562563207	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:45768695C>T	ENST00000379108.1	-	1	157	c.8G>A	c.(7-9)cGt>cAt	p.R3H	KCTD4_ENST00000405872.1_Missense_Mutation_p.R3H|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	3					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GTTTATTTTACGCTCCATTTT	0.393													C|||	2	0.000399361	8e-04	0	5008	,	,		21233	0		0	False		,,,				2504	0.001																0													153	145	148					13																	45768695		2203	4300	6503	SO:0001583	missense	386618			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 4"				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.8G>A	13.37:g.45768695C>T	ENSP00000368402:p.Arg3His		Q5W0P9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R3H	ENST00000379108.1	37	c.8	CCDS9396.1	13	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445492	0.43429	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.55760	0.5;0.5	5.5	5.5	0.81552	.	0.117279	0.64402	N	0.000011	T	0.39682	0.1087	N	0.24115	0.695	0.53005	D	0.999965	D	0.64830	0.994	B	0.38616	0.277	T	0.34054	-0.9844	10	0.38643	T	0.18	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	3	Q8WVF5	KCTD4_HUMAN	H	3	ENSP00000368402:R3H;ENSP00000385144:R3H	ENSP00000368402:R3H	R	-	2	0	KCTD4	44666695	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.177000	0.58276	2.749000	0.94314	0.585000	0.79938	CGT	KCTD4	-	NULL		0.393	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD4	HGNC	protein_coding	OTTHUMT00000044757.1	C			45768695	-1	no_errors	ENST00000379108	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45768695	C	T	45768695	3	4	97	1	0	0	0	0	1	0	0	0	8131	536	19	2	775	2	KCTD4	13	45768695	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2170865	45768695	69401183	381	14105										
PCDH17	27253	genome.wustl.edu	37	chr13	58207445	58207445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttggtggaactgcccgagaaCgctccgctgggtacagtggt	15	10	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:58207445C>T	ENST00000377918.3	+	1	791	c.765C>T	c.(763-765)aaC>aaT	p.N255N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCCGAGAACGCTCCGCTGG	0.577																																					Melanoma(72;952 1291 1619 12849 33676)												0													75	64	68					13																	58207445		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.765C>T	13.37:g.58207445C>T			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N255	ENST00000377918.3	37	c.765	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58207445	1	no_errors	ENST00000377918	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58207445	C	T	58207445	2	4	97	1	0	0	0	0	0	0	0	1	11536	535	19	2		2	PCDH17	13	58207445	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	12438750	58207445	56962433	382	14106										
PCDH20	64881	genome.wustl.edu	37	chr13	61988033	61988033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtttaggctgtacagaagctCggtggcccggctgtaactcc	13	11	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:61988033C>T	ENST00000409186.1	-	5	2304	c.199G>A	c.(199-201)Gag>Aag	p.E67K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E67K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TACAGAAGCTCGGTGGCCCGG	0.622																																																	0													18	19	18					13																	61988033		2200	4297	6497	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.199G>A	13.37:g.61988033C>T	ENSP00000386653:p.Glu67Lys		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E67K	ENST00000409186.1	37	c.199	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	35	5.573001	0.96553	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.57273	0.41;0.41	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000012	T	0.62780	0.2456	L	0.49126	1.545	0.58432	D	0.999998	D	0.71674	0.998	P	0.55222	0.771	T	0.63233	-0.6683	10	0.48119	T	0.1	.	18.9313	0.92566	0.0:1.0:0.0:0.0	.	67	A8K1K9	.	K	67	ENSP00000387250:E67K;ENSP00000386653:E67K	ENSP00000386653:E67K	E	-	1	0	PCDH20	60886034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.913000	0.75759	2.471000	0.83476	0.591000	0.81541	GAG	PCDH20	-	pfscan_Cadherin		0.622	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	C	NM_022843		61988033	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61988033	C	T	61988033	3	4	97	1	0	0	0	0	1	0	0	0	11539	893	31	1	2660	1	PCDH20	13	61988033	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3780588	61988033	53181845	383	14107										
PIBF1	10464	genome.wustl.edu	37	chr13	73539531	73539531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaatctattgcacaacttgaGaaagatgtcaggtaaaccat	8	7	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:73539531G>A	ENST00000326291.6	+	15	2291	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	651						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CACAACTTGAGAAAGATGTCA	0.353																																																	0													55	51	52					13																	73539531		2203	4300	6503	SO:0001819	synonymous_variant	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1953G>A	13.37:g.73539531G>A			O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	superfamily_t-SNARE	p.E651	ENST00000326291.6	37	c.1953	CCDS31991.1	13																																																																																			PIBF1	-	superfamily_t-SNARE		0.353	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	G	NM_006346		73539531	1	no_errors	ENST00000326291	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73539531	G	A	73539531	2	1	97	1	0	0	0	0	0	0	0	1	11903	933	33	1		1	PIBF1	13	73539531	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	11551498	73539531	41630347	384	14108										
LMO7	4008	genome.wustl.edu	37	chr13	76395533	76395533	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accgtgtaacaactgaaattCagcttccttctcaaagtcct	5	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:76395533C>T	ENST00000321797.8	+	12	2450	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q862*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q427*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q528*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q577*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.Q862*			Q8WWI1	LMO7_HUMAN	LIM domain 7	862					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACTGAAATTCAGCTTCCTTC	0.438																																																	0													114	108	110					13																	76395533		2203	4300	6503	SO:0001587	stop_gained	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1729C>T	13.37:g.76395533C>T	ENSP00000317802:p.Gln577*		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.Q862*	ENST00000321797.8	37	c.2584		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.635822|15.635822	0.99840|0.99840	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038	.|.	.|.	.|.	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	1.138560|.	0.06101|.	N|.	0.665389|.	.|T	.|0.54255	.|0.1847	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62618	.|-0.6816	.|3	0.28530|.	T|.	0.3|.	2.4809|2.4809	10.737|10.737	0.46130|0.46130	0.1487:0.7086:0.1427:0.0|0.1487:0.7086:0.1427:0.0	.|.	.|.	.|.	.|.	X|L	528;862;862;476;577;427;577|485	.|.	ENSP00000317802:Q577X|.	Q|S	+|+	1|2	0|0	LMO7|LMO7	75293534|75293534	0.007000|0.007000	0.16637|0.16637	0.005000|0.005000	0.12908|0.12908	0.907000|0.907000	0.53573|0.53573	2.236000|2.236000	0.43052|0.43052	0.773000|0.773000	0.33404|0.33404	0.650000|0.650000	0.86243|0.86243	CAG|TCA	LMO7	-	NULL		0.438	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76395533	1	no_errors	ENST00000357063	ensembl	human	known	70_37	nonsense	SNP	0.016	T	T	76395533	C	T	76395533	4	4	97	1	0	0	0	0	0	1	0	0	8876	827	29	1	2642	1	LMO7	13	76395533	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2856002	76395533	38774345	385	14109										
MYCBP2	23077	genome.wustl.edu	37	chr13	77625989	77625989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggcaccacaaatgagctctCtgggatcataatcatctccc	7	13	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:77625989C>G	ENST00000544440.2	-	81	13615	c.13598G>C	c.(13597-13599)aGa>aCa	p.R4533T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.R4571T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4533T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATGAGCTCTCTGGGATCATA	0.418																																																	0													84	81	82					13																	77625989		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13598G>C	13.37:g.77625989C>G	ENSP00000444596:p.Arg4533Thr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R4571T	ENST00000544440.2	37	c.13712		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.06|16.06	3.017080|3.017080	0.54576|0.54576	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.26957	.|1.7;1.7;1.7	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.191390	.|0.51477	.|D	.|0.000082	T|T	0.11836|0.11836	0.0288|0.0288	N|N	0.01352|0.01352	-0.895|-0.895	0.52099|0.52099	D|D	0.999945|0.999945	.|B	.|0.20261	.|0.043	.|B	.|0.19946	.|0.027	T|T	0.27872|0.27872	-1.0061|-1.0061	5|10	.|0.21540	.|T	.|0.41	.|.	19.8309|19.8309	0.96634|0.96634	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4533	.|O75592	.|MYCB2_HUMAN	H|T	953|4533;4571;4533	.|ENSP00000349892:R4533T;ENSP00000384288:R4571T;ENSP00000444596:R4533T	.|ENSP00000349892:R4533T	Q|R	-|-	3|2	2|0	MYCBP2|MYCBP2	76523990|76523990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.256000|7.256000	0.78350|0.78350	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	CAG|AGA	MYCBP2	-	NULL		0.418	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77625989	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77625989	C	G	77625989	3	3	97	1	0	0	0	0	1	0	0	0	10041	913	32	1	336	1	MYCBP2	13	77625989	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1230456	77625989	37543889	386	14110										
SLAIN1	122060	genome.wustl.edu	37	chr13	78320653	78320653	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atttgttattttataggtctCaggcaagattatgcttctac	7	6	2	1	rs376535190		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:78320653C>T	ENST00000466548.1	+	5	881	c.855C>T	c.(853-855)ctC>ctT	p.L285L	SLAIN1_ENST00000418532.1_Silent_p.L66L|SLAIN1_ENST00000351546.3_Silent_p.L22L|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000488699.1_Silent_p.L143L|SLAIN1_ENST00000358679.3_Silent_p.L22L|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000267219.8_Silent_p.L66L	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	285										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTATAGGTCTCAGGCAAGATT	0.308																																																	0								C	,,,,,	0,4406		0,0,2203	68	64	65		429,921,,,63,66	5.1	1	13		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	SLAIN1	NM_001040153.3,NM_001242868.1,NM_001242869.1,NM_001242870.1,NM_001242871.1,NM_144595.3	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	143/427,307/591,,,21/305,22/306	78320653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	122060			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.855C>T	13.37:g.78320653C>T			A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	NULL	p.L285	ENST00000466548.1	37	c.855		13																																																																																			SLAIN1	-	NULL		0.308	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	SLAIN1	HGNC	protein_coding	OTTHUMT00000355018.1	C	NM_144595		78320653	1	no_errors	ENST00000466548	ensembl	human	known	70_37	silent	SNP	1.000	T	T	78320653	C	T	78320653	2	4	97	1	0	0	0	0	0	0	0	1	14395	813	29	1		1	SLAIN1	13	78320653	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	694664	78320653	36849225	387	14111										
RNF219	79596	genome.wustl.edu	37	chr13	79190976	79190976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcgctaggtgagaagaactgGaggtggatgagccaggctgc	17	7	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:79190976G>T	ENST00000282003.6	-	6	978	c.920C>A	c.(919-921)tCc>tAc	p.S307Y	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	307	Poly-Ser.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGAAGAACTGGAGGTGGATGA	0.517																																																	0													87	80	82					13																	79190976		2203	4300	6503	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.920C>A	13.37:g.79190976G>T	ENSP00000282003:p.Ser307Tyr		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.S307Y	ENST00000282003.6	37	c.920	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	2.177	-0.388543	0.04932	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.94	1.08	0.20341	.	2.015180	0.02883	N	0.133053	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.19391	0.025	T	0.20538	-1.0272	9	0.66056	D	0.02	-30.515	3.9921	0.09541	0.3316:0.0:0.5136:0.1548	.	307	Q5W0B1	RN219_HUMAN	Y	307	.	ENSP00000282003:S307Y	S	-	2	0	RNF219	78088977	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	0.169000	0.16641	0.136000	0.18733	0.655000	0.94253	TCC	RNF219	-	NULL		0.517	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	G	NM_024546		79190976	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	missense	SNP	0.000	T	T	79190976	G	T	79190976	3	4	97	1	0	0	0	0	1	0	0	0	13512	1174	41	3	1264	3	RNF219	13	79190976	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	870323	79190976	35978902	388	14112										
SLITRK5	26050	genome.wustl.edu	37	chr13	88329806	88329806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agcgtgtacggcggcggcggCggcacgggcggccacccaca	18	15	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:88329806C>T	ENST00000325089.6	+	2	2382	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G	SLITRK5_ENST00000400028.3_Silent_p.G480G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	721					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCGGCGGCGGCACGGGCG	0.652																																																	0													42	50	47					13																	88329806		2202	4294	6496	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2163C>T	13.37:g.88329806C>T			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G721	ENST00000325089.6	37	c.2163	CCDS9465.1	13																																																																																			SLITRK5	-	NULL		0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	C			88329806	1	no_errors	ENST00000325089	ensembl	human	known	70_37	silent	SNP	0.564	T	T	88329806	C	T	88329806	2	4	97	1	0	0	0	0	0	0	0	1	14776	755	27	2		2	SLITRK5	13	88329806	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9138830	88329806	26840072	389	14113										
ABCC4	10257	genome.wustl.edu	37	chr13	95727803	95727803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgggaaaacactggactccGagctggggaaacagacagag	15	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:95727803G>A	ENST00000376887.4	-	22	2803	c.2689C>T	c.(2689-2691)Cgg>Tgg	p.R897W	ABCC4_ENST00000474158.1_5'Flank|ABCC4_ENST00000412704.1_Missense_Mutation_p.R850W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	897	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R897W(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACTGGACTCCGAGCTGGGGAA	0.532																																																	2	Substitution - Missense(2)	large_intestine(2)											73	73	73					13																	95727803		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2689C>T	13.37:g.95727803G>A	ENSP00000366084:p.Arg897Trp		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.R897W	ENST00000376887.4	37	c.2689	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644179	0.67244	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90004	-2.6;-2.6	5.39	5.39	0.77823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.99327	1.0908	10	0.87932	D	0	.	19.1567	0.93514	0.0:0.0:1.0:0.0	.	850;897	O15439-2;O15439	.;MRP4_HUMAN	W	850;897	ENSP00000388657:R850W;ENSP00000366084:R897W	ENSP00000366084:R897W	R	-	1	2	ABCC4	94525804	1.000000	0.71417	0.992000	0.48379	0.051000	0.14879	7.592000	0.82676	2.508000	0.84585	0.563000	0.77884	CGG	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.532	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	G	NM_005845		95727803	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95727803	G	A	95727803	3	1	97	1	0	0	0	0	1	0	0	0	55	1057	37	1	1328	1	ABCC4	13	95727803	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7397997	95727803	19442075	390	14114										
DZIP1	22873	genome.wustl.edu	37	chr13	96234514	96234514	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atctgaagtgtcgctccaatCagtcacagttactaagctgc	8	11	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:96234514C>T	ENST00000376829.2	-	23	3429	c.2578G>A	c.(2578-2580)Gat>Aat	p.D860N	DZIP1_ENST00000361396.2_Missense_Mutation_p.D841N|DZIP1_ENST00000361156.3_Missense_Mutation_p.D841N|DZIP1_ENST00000347108.3_Missense_Mutation_p.D860N	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	860					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCGCTCCAATCAGTCACAGTT	0.408																																																	0													241	202	215					13																	96234514		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2578G>A	13.37:g.96234514C>T	ENSP00000366025:p.Asp860Asn		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D860N	ENST00000376829.2	37	c.2578	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775639	0.90195	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.22945	2.03;1.93;1.93;2.03	5.24	5.24	0.73138	.	0.113069	0.64402	D	0.000017	T	0.49150	0.1540	M	0.74258	2.255	0.40567	D	0.981263	D;D	0.69078	0.997;0.997	P;P	0.60415	0.874;0.817	T	0.53885	-0.8375	10	0.72032	D	0.01	-8.8871	17.3858	0.87415	0.0:1.0:0.0:0.0	.	841;860	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	N	860;841;841;860	ENSP00000257312:D860N;ENSP00000355018:D841N;ENSP00000355175:D841N;ENSP00000366025:D860N	ENSP00000257312:D860N	D	-	1	0	DZIP1	95032515	0.930000	0.31532	0.223000	0.23860	0.916000	0.54674	4.399000	0.59703	2.605000	0.88082	0.591000	0.81541	GAT	DZIP1	-	NULL		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	C	NM_014934		96234514	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	missense	SNP	0.688	T	T	96234514	C	T	96234514	3	4	97	1	0	0	0	0	1	0	0	0	4873	826	29	1	29	1	DZIP1	13	96234514	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	506711	96234514	18935364	391	14115										
ABHD13	84945	genome.wustl.edu	37	chr13	108881678	108881678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tacctttaatagtgacttttCatctgtatggaggcattatc	7	7	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:108881678C>T	ENST00000375898.3	+	2	413	c.112C>T	c.(112-114)Cat>Tat	p.H38Y		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	38						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGTGACTTTTCATCTGTATGG	0.373																																					Pancreas(22;506 789 38166 45896 51596)												0													133	134	134					13																	108881678		2203	4299	6502	SO:0001583	missense	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.112C>T	13.37:g.108881678C>T	ENSP00000365063:p.His38Tyr		B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AXE1	p.H38Y	ENST00000375898.3	37	c.112	CCDS32007.1	13	.	.	.	.	.	.	.	.	.	.	C	1.057	-0.673939	0.03378	.	.	ENSG00000139826	ENST00000375898	T	0.40756	1.02	5.75	5.75	0.90469	.	0.050740	0.85682	D	0.000000	T	0.25344	0.0616	N	0.19112	0.55	0.80722	D	1	B	0.17667	0.023	B	0.11329	0.006	T	0.08207	-1.0733	10	0.02654	T	1	-24.1918	13.8438	0.63455	0.1526:0.8474:0.0:0.0	.	38	Q7L211	ABHDD_HUMAN	Y	38	ENSP00000365063:H38Y	ENSP00000365063:H38Y	H	+	1	0	ABHD13	107679679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.532000	0.67154	2.701000	0.92244	0.557000	0.71058	CAT	ABHD13	-	NULL		0.373	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD13	HGNC	protein_coding	OTTHUMT00000045743.1	C	NM_032859		108881678	1	no_errors	ENST00000375898	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108881678	C	T	108881678	3	4	97	1	0	0	0	0	1	0	0	0	78	826	29	1	114	1	ABHD13	13	108881678	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	12647164	108881678	6288200	392	14116										
MYO16	23026	genome.wustl.edu	37	chr13	109365026	109365026	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagtgcttcggctcctgaagGagggggcagacccccacacc	13	15	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:109365026G>C	ENST00000357550.2	+	2	285	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	MYO16_ENST00000251041.5_Missense_Mutation_p.E82Q|MYO16_ENST00000356711.2_Missense_Mutation_p.E82Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTCCTGAAGGAGGGGGCAGA	0.562																																																	0													126	105	112					13																	109365026		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.244G>C	13.37:g.109365026G>C	ENSP00000350160:p.Glu82Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E82Q	ENST00000357550.2	37	c.244	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357703	0.61403	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	4.43	0.53597	Ankyrin repeat-containing domain (4);	0.198276	0.23758	U	0.044859	T	0.49133	0.1539	N	0.10645	0.015	0.80722	D	1	B;D	0.58970	0.298;0.984	B;P	0.54140	0.143;0.743	T	0.41980	-0.9478	9	.	.	.	.	8.8503	0.35194	0.0995:0.0:0.9005:0.0	.	82;82	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	Q	82	ENSP00000349145:E82Q;ENSP00000350160:E82Q;ENSP00000251041:E82Q	.	E	+	1	0	MYO16	108163027	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	3.660000	0.54496	2.473000	0.83533	0.650000	0.86243	GAG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.562	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	G	NM_015011		109365026	1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109365026	G	C	109365026	3	2	97	1	0	0	0	0	1	0	0	0	10087	1175	41	1	250	1	MYO16	13	109365026	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	483348	109365026	5804852	393	14117										
COL4A1	1282	genome.wustl.edu	37	chr13	110831667	110831667	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcgctccatgttctccaggAacgcctggtaccccaatgct	8	15	1	0	rs192750030		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:110831667A>G	ENST00000375820.4	-	30	2416	c.2295T>C	c.(2293-2295)gtT>gtC	p.V765V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	765	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTTCTCCAGGAACGCCTGGTA	0.582																																																	0													86	90	89					13																	110831667		2203	4300	6503	SO:0001819	synonymous_variant	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2295T>C	13.37:g.110831667A>G			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V765	ENST00000375820.4	37	c.2295	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen		0.582	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	A			110831667	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	silent	SNP	0.990	G	G	110831667	A	G	110831667	2	3	97	1	0	0	0	0	0	0	0	1	3694	233	9	5		5	COL4A1	13	110831667	Silent	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	1466641	110831667	4338211	394	14118										
TMCO3	55002	genome.wustl.edu	37	chr13	114150193	114150193	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgcacacgtttgaaattttCcagaaagagctgaatgaaag	10	6	0	5			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:114150193C>T	ENST00000434316.2	+	2	656	c.297C>T	c.(295-297)ttC>ttT	p.F99F	TMCO3_ENST00000375391.1_Silent_p.F99F|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	99						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTGAAATTTTCCAGAAAGAGC	0.458																																																	0													55	57	56					13																	114150193		2203	4300	6503	SO:0001819	synonymous_variant	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.297C>T	13.37:g.114150193C>T			Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	pfam_Cation/H_exchanger	p.F99	ENST00000434316.2	37	c.297	CCDS9537.1	13																																																																																			TMCO3	-	NULL		0.458	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	C	NM_017905		114150193	1	no_errors	ENST00000434316	ensembl	human	known	70_37	silent	SNP	1.000	T	T	114150193	C	T	114150193	2	4	97	1	0	0	0	0	0	0	0	1	16027	854	30	1		1	TMCO3	13	114150193	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3318526	114150193	1019685	395	14119										
REM2	161253	genome.wustl.edu	37	chr14	23354206	23354206	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtctccagggagacagtgctCacgaaccggagaacccaggt	13	12	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:23354206C>G	ENST00000267396.4	+	2	550	c.427C>G	c.(427-429)Cac>Gac	p.H143D	REM2_ENST00000536884.1_Missense_Mutation_p.H143D	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	143					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGACAGTGCTCACGAACCGGA	0.612																																																	0													33	36	35					14																	23354206		2003	4169	6172	SO:0001583	missense	161253				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.427C>G	14.37:g.23354206C>G	ENSP00000267396:p.His143Asp		B7Z5P1|Q8N8R8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase	p.H143D	ENST00000267396.4	37	c.427	CCDS45082.1	14	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676874	0.47886	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.78816	-1.21;1.23	5.72	5.72	0.89469	.	0.110562	0.64402	D	0.000007	T	0.80681	0.4669	N	0.14661	0.345	0.52099	D	0.999941	D;D	0.71674	0.996;0.998	D;D	0.85130	0.99;0.997	T	0.83306	-0.0025	10	0.66056	D	0.02	.	19.0144	0.92888	0.0:1.0:0.0:0.0	.	143;143	B7Z5P1;Q8IYK8	.;REM2_HUMAN	D	143	ENSP00000267396:H143D;ENSP00000442774:H143D	ENSP00000267396:H143D	H	+	1	0	REM2	22424046	0.575000	0.26692	1.000000	0.80357	0.835000	0.47333	1.404000	0.34623	2.865000	0.98341	0.655000	0.94253	CAC	REM2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad		0.612	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM2	HGNC	protein_coding	OTTHUMT00000408290.1	C	NM_173527		23354206	1	no_errors	ENST00000267396	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23354206	C	G	23354206	3	3	97	1	0	0	0	0	1	0	0	0	13253	826	29	1	433	1	REM2	14	23354206	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		23354206	83995334	396	14120										
HAUS4	54930	genome.wustl.edu	37	chr14	23421630	23421630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgtgtaaaatctcagacctCaaccatgttgtcttatgcag	7	10	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:23421630C>T	ENST00000206474.7	-	4	489	c.237G>A	c.(235-237)ttG>ttA	p.L79L	HAUS4_ENST00000490506.1_5'UTR|HAUS4_ENST00000555367.1_Silent_p.L79L|HAUS4_ENST00000397409.4_Silent_p.L79L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Silent_p.L79L|HAUS4_ENST00000554446.1_5'UTR|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000347758.2_Silent_p.L79L|HAUS4_ENST00000555986.1_Silent_p.L79L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Silent_p.L79L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	79					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTCAGACCTCAACCATGTTG	0.408																																																	0													251	243	245					14																	23421630		2203	4300	6503	SO:0001819	synonymous_variant	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.237G>A	14.37:g.23421630C>T			B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Silent	SNP	NULL	p.L79	ENST00000206474.7	37	c.237	CCDS9580.1	14																																																																																			HAUS4	-	NULL		0.408	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	C			23421630	-1	no_errors	ENST00000206474	ensembl	human	known	70_37	silent	SNP	0.985	T	T	23421630	C	T	23421630	2	4	97	1	0	0	0	0	0	0	0	1	6988	825	29	1		1	HAUS4	14	23421630	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	67424	23421630	83927910	397	14121										
ADCY4	196883	genome.wustl.edu	37	chr14	24791337	24791337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agggagcacgttctccaagaGcagccgagtcaggttctcca	12	12	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:24791337G>A	ENST00000310677.4	-	21	2634	c.2521C>T	c.(2521-2523)Ctc>Ttc	p.L841F	ADCY4_ENST00000418030.2_Missense_Mutation_p.L841F|ADCY4_ENST00000554068.2_Missense_Mutation_p.L841F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	841					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TTCTCCAAGAGCAGCCGAGTC	0.602																																																	0													134	117	123					14																	24791337		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2521C>T	14.37:g.24791337G>A	ENSP00000312126:p.Leu841Phe		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L841F	ENST00000310677.4	37	c.2521	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548911	0.86127	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.85171	-1.95;-1.95;-1.95	5.16	5.16	0.70880	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.44097	D	0.000493	D	0.93038	0.7784	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93510	0.6852	10	0.87932	D	0	.	9.5433	0.39266	0.0928:0.0:0.9072:0.0	.	841	Q8NFM4	ADCY4_HUMAN	F	841	ENSP00000312126:L841F;ENSP00000452250:L841F;ENSP00000393177:L841F	ENSP00000312126:L841F	L	-	1	0	ADCY4	23861177	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	1.854000	0.39368	2.696000	0.92011	0.655000	0.94253	CTC	ADCY4	-	smart_A/G_cyclase		0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24791337	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24791337	G	A	24791337	3	1	97	1	0	0	0	0	1	0	0	0	296	971	34	4	736	4	ADCY4	14	24791337	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1369707	24791337	82558203	398	14122										
C14orf106	55320	genome.wustl.edu	37	chr14	45693269	45693269	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accagacttctgaagagtttCtttgacggaaggtctagctt	10	8	3	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:45693269C>G	ENST00000310806.4	-	11	2979	c.2521G>C	c.(2521-2523)Gaa>Caa	p.E841Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	841					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAAGAGTTTCTTTGACGGAA	0.358																																																	0													116	110	112					14																	45693269		2203	4300	6503	SO:0001583	missense	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2521G>C	14.37:g.45693269C>G	ENSP00000309790:p.Glu841Gln		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E841Q	ENST00000310806.4	37	c.2521	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	2.518	-0.311433	0.05422	.	.	ENSG00000129534	ENST00000310806	T	0.18502	2.21	5.72	0.0843	0.14436	.	0.909800	0.09498	N	0.794003	T	0.12390	0.0301	L	0.53249	1.67	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.35748	-0.9776	10	0.29301	T	0.29	-0.5769	0.7799	0.01039	0.1663:0.3755:0.1614:0.2968	.	841	Q6P0N0	M18BP_HUMAN	Q	841	ENSP00000309790:E841Q	ENSP00000309790:E841Q	E	-	1	0	MIS18BP1	44763019	0.000000	0.05858	0.033000	0.17914	0.072000	0.16883	0.347000	0.20014	0.335000	0.23614	0.655000	0.94253	GAA	MIS18BP1	-	NULL		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	C			45693269	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	missense	SNP	0.000	G	G	45693269	C	G	45693269	3	3	97	1	0	0	0	0	1	0	0	0	1742	922	32	1	905	1	C14orf106	14	45693269	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	20901932	45693269	61656271	399	14123										
C14orf104	55172	genome.wustl.edu	37	chr14	50101845	50101845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggtccaagtcctccagcgacGaggaggccgccgctttggcc	14	15	0	0	rs137853191		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:50101845G>A	ENST00000298292.8	-	1	103	c.23C>T	c.(22-24)tCg>tTg	p.S8L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S8L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	8					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCAGCGACGAGGAGGCCGC	0.647																																																	0			GRCh37	CM086380	DNAAF2	M	rs137853191						3	4	4					14																	50101845		1828	3905	5733	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.23C>T	14.37:g.50101845G>A	ENSP00000298292:p.Ser8Leu		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.S8L	ENST00000298292.8	37	c.23	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171223	0.78452	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.20069	2.1;2.37	5.28	5.28	0.74379	.	.	.	.	.	T	0.38081	0.1027	L	0.44542	1.39	0.30498	N	0.770698	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.24941	-1.0146	9	0.72032	D	0.01	.	12.5187	0.56046	0.0:0.1813:0.8187:0.0	.	8;8	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	L	8	ENSP00000298292:S8L;ENSP00000384862:S8L	ENSP00000298292:S8L	S	-	2	0	DNAAF2	49171595	1.000000	0.71417	0.601000	0.28877	0.673000	0.39480	5.778000	0.68940	2.490000	0.84030	0.306000	0.20318	TCG	DNAAF2	-	NULL		0.647	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50101845	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	0.891	A	A	50101845	G	A	50101845	3	1	97	1	0	0	0	0	1	0	0	0	1740	1059	37	1	2502	1	C14orf104	14	50101845	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4408576	50101845	57247695	400	14124										
PTGDR	5729	genome.wustl.edu	37	chr14	52734613	52734613	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgatgggcggggtgctcttCagcaccggcctcctgggcaa	16	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:52734613C>A	ENST00000306051.2	+	1	183	c.81C>A	c.(79-81)ttC>ttA	p.F27L	PTGDR_ENST00000553372.1_Missense_Mutation_p.F27L	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	27					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGGTGCTCTTCAGCACCGGCC	0.701																																																	0													22	23	23					14																	52734613		2203	4299	6502	SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.81C>A	14.37:g.52734613C>A	ENSP00000303424:p.Phe27Leu		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.F27L	ENST00000306051.2	37	c.81	CCDS9707.1	14	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208527	0.58343	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.40756	1.02;1.02	4.83	2.97	0.34412	.	0.000000	0.50627	D	0.000101	T	0.55641	0.1933	M	0.67397	2.05	0.40900	D	0.984147	D	0.76494	0.999	D	0.80764	0.994	T	0.52601	-0.8554	10	0.33141	T	0.24	-31.2281	7.5861	0.27993	0.0:0.724:0.0:0.276	.	27	Q13258	PD2R_HUMAN	L	27	ENSP00000303424:F27L;ENSP00000452408:F27L	ENSP00000303424:F27L	F	+	3	2	PTGDR	51804363	0.017000	0.18338	0.999000	0.59377	0.372000	0.29890	0.273000	0.18662	0.697000	0.31718	0.563000	0.77884	TTC	PTGDR	-	NULL		0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52734613	1	no_errors	ENST00000306051	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52734613	C	A	52734613	3	1	97	1	0	0	0	0	1	0	0	0	12768	825	29	3	83	3	PTGDR	14	52734613	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2632768	52734613	54614927	401	14125										
TMEM30B	161291	genome.wustl.edu	37	chr14	61747694	61747694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctccagctccttgatgccgtTggaggagtagtagaggccca	13	11	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:61747694T>C	ENST00000555868.1	-	1	864	c.172A>G	c.(172-174)Aac>Gac	p.N58D	TMEM30B_ENST00000355702.2_Missense_Mutation_p.N58D|TMEM30B_ENST00000557163.1_Intron	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	58					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		TTGATGCCGTTGGAGGAGTAG	0.711																																																	0													7	6	6					14																	61747694		1938	3861	5799	SO:0001583	missense	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.172A>G	14.37:g.61747694T>C	ENSP00000450842:p.Asn58Asp		B3KR84|Q14D00	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.N58D	ENST00000555868.1	37	c.172	CCDS32093.1	14	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447899	0.43429	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	5.12	0.981	0.19756	.	0.297576	0.31685	N	0.007221	T	0.45074	0.1324	M	0.68317	2.08	0.31304	N	0.687959	P	0.35468	0.503	B	0.39119	0.291	T	0.50189	-0.8857	9	0.27785	T	0.31	-0.9127	11.0267	0.47748	0.0:0.0:0.4576:0.5424	.	58	Q3MIR4	CC50B_HUMAN	D	58	.	ENSP00000347930:N58D	N	-	1	0	TMEM30B	60817447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.728000	0.47319	0.251000	0.21505	-0.449000	0.05564	AAC	TMEM30B	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.711	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30B	HGNC	protein_coding	OTTHUMT00000413358.1	T	XM_090844		61747694	-1	no_errors	ENST00000355702	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61747694	T	C	61747694	3	2	97	1	0	0	0	0	1	0	0	0	16184	1812	63	5	887	5	TMEM30B	14	61747694	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	9013081	61747694	45601846	402	14126										
SFRS5	6430	genome.wustl.edu	37	chr14	70237973	70237973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taggtctcgtagccgatcccGttcccgtagtcgcaaatctt	9	13	2	0	rs141668513		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:70237973G>A	ENST00000553521.1	+	9	2067	c.614G>A	c.(613-615)cGt>cAt	p.R205H	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_Missense_Mutation_p.R202H|SRSF5_ENST00000394366.2_Missense_Mutation_p.R205H|SRSF5_ENST00000557154.1_Missense_Mutation_p.R205H			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	205	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AGCCGATCCCGTTCCCGTAGT	0.527																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	88	96	93		614,614	5.8	1	14	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SRSF5	NM_006925.3,NM_001039465.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	205/273,205/273	70237973	1,13005	2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.614G>A	14.37:g.70237973G>A	ENSP00000452123:p.Arg205His		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R205H	ENST00000553521.1	37	c.614	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019499	0.54576	0.0	1.16E-4	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.78	5.78	0.91487	.	2.183590	0.02345	N	0.075338	T	0.22437	0.0541	M	0.63428	1.95	0.80722	D	1	B;B	0.17465	0.022;0.013	B;B	0.09377	0.004;0.002	T	0.45086	-0.9285	10	0.40728	T	0.16	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	202;205	Q13243-3;Q13243	.;SRSF5_HUMAN	H	205;205;205;202	ENSP00000452123:R205H;ENSP00000377892:R205H;ENSP00000451088:R205H;ENSP00000451391:R202H	ENSP00000377892:R205H	R	+	2	0	SRSF5	69307726	1.000000	0.71417	0.996000	0.52242	0.615000	0.37417	7.937000	0.87672	2.738000	0.93877	0.655000	0.94253	CGT	SRSF5	-	NULL		0.527	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	G	NM_001039465		70237973	1	no_errors	ENST00000394366	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	70237973	G	A	70237973	3	1	97	1	0	0	0	0	1	0	0	0	14210	1145	40	2	640	2	SFRS5	14	70237973	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8490279	70237973	37111567	403	14127										
ACOT1	641371	genome.wustl.edu	37	chr14	74009782	74009782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccaggagttgggctgcttgGaatttccaaagggggtgagc	16	7	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:74009782G>A	ENST00000311148.4	+	3	997	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	230					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GGGCTGCTTGGAATTTCCAAA	0.522																																																	0													58	49	52					14																	74009782		2197	4281	6478	SO:0001583	missense	641371			DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.689G>A	14.37:g.74009782G>A	ENSP00000311224:p.Gly230Glu		A1L173|Q3I5F9	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain	p.G230E	ENST00000311148.4	37	c.689	CCDS32117.1	14	.	.	.	.	.	.	.	.	.	.	-	19.00	3.741072	0.69304	.	.	ENSG00000184227	ENST00000311148	D	0.88975	-2.45	4.06	4.06	0.47325	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.108531	0.64402	D	0.000006	D	0.95828	0.8642	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	10	0.87932	D	0	-24.0445	16.8444	0.85976	0.0:0.0:1.0:0.0	.	230	Q86TX2	ACOT1_HUMAN	E	230	ENSP00000311224:G230E	ENSP00000311224:G230E	G	+	2	0	ACOT1	73079535	1.000000	0.71417	0.834000	0.33040	0.866000	0.49608	6.590000	0.74085	2.255000	0.74692	0.393000	0.25936	GGA	ACOT1	-	pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain		0.522	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT1	HGNC	protein_coding	OTTHUMT00000414432.1	G	NM_001037161		74009782	1	no_errors	ENST00000311148	ensembl	human	known	70_37	missense	SNP	0.972	A	A	74009782	G	A	74009782	3	1	97	1	0	0	0	0	1	0	0	0	148	1174	41	1	699	1	ACOT1	14	74009782	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3771809	74009782	33339758	404	14128										
ACOT2	10965	genome.wustl.edu	37	chr14	74041640	74041640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccaggagttgggctgcttgGaatttccaaagggggtgagc	16	7	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:74041640G>A	ENST00000238651.5	+	3	1057	c.875G>A	c.(874-876)gGa>gAa	p.G292E	ACOT2_ENST00000538782.1_Missense_Mutation_p.G95E|ACOT2_ENST00000557857.1_3'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	292					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGGCTGCTTGGAATTTCCAAA	0.507																																																	0													58	58	58					14																	74041640		2203	4297	6500	SO:0001583	missense	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.875G>A	14.37:g.74041640G>A	ENSP00000238651:p.Gly292Glu		Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.G292E	ENST00000238651.5	37	c.875	CCDS9816.1	14	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671302	0.67814	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	D;D	0.89746	-2.56;-2.45	4.21	4.21	0.49690	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.108531	0.64402	D	0.000006	D	0.95079	0.8406	M	0.91768	3.24	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95773	0.8810	10	0.87932	D	0	-24.0445	12.4794	0.55833	0.0:0.1688:0.8312:0.0	.	230;292;95	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	E	95;292	ENSP00000440961:G95E;ENSP00000238651:G292E	ENSP00000238651:G292E	G	+	2	0	ACOT2	73111393	1.000000	0.71417	0.853000	0.33588	0.824000	0.46624	6.886000	0.75611	1.877000	0.54381	0.511000	0.50034	GGA	ACOT2	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain		0.507	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	G	NM_006821		74041640	1	no_errors	ENST00000238651	ensembl	human	known	70_37	missense	SNP	0.990	A	A	74041640	G	A	74041640	3	1	97	1	0	0	0	0	1	0	0	0	152	1174	41	1	885	1	ACOT2	14	74041640	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	31858	74041640	33307900	405	14129										
DNAL1	83544	genome.wustl.edu	37	chr14	74156098	74156098	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgagtttgtgaagctggcaGaactgccatgcctcgaagac	12	10	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:74156098G>A	ENST00000553645.2	+	7	453	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	DNAL1_ENST00000540526.1_Missense_Mutation_p.E99K|DNAL1_ENST00000554339.1_Missense_Mutation_p.E51K|DNAL1_ENST00000554871.1_Missense_Mutation_p.E99K|DNAL1_ENST00000311089.3_Missense_Mutation_p.E25K	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	138										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAAGCTGGCAGAACTGCCATG	0.458																																																	0													57	53	54					14																	74156098		1849	4021	5870	SO:0001583	missense	83544			BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"chromosome 14 open reading frame 168"	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.412G>A	14.37:g.74156098G>A	ENSP00000452037:p.Glu138Lys		B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	NULL	p.E138K	ENST00000553645.2	37	c.412	CCDS45134.1	14	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362376	0.61403	.	.	ENSG00000119661	ENST00000554113;ENST00000555631;ENST00000553645;ENST00000311089;ENST00000554339;ENST00000554871;ENST00000540526	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.78	5.78	0.91487	.	0.140327	0.64402	D	0.000005	T	0.17959	0.0431	L	0.31752	0.955	0.58432	D	0.999996	B	0.14012	0.009	B	0.12837	0.008	T	0.10042	-1.0647	10	0.10902	T	0.67	-0.1755	20.0139	0.97470	0.0:0.0:1.0:0.0	.	138	Q4LDG9	DNAL1_HUMAN	K	25;25;138;25;51;99;99	ENSP00000452368:E25K;ENSP00000452037:E138K;ENSP00000310360:E25K;ENSP00000450744:E51K;ENSP00000451834:E99K;ENSP00000439695:E99K	ENSP00000310360:E138K	E	+	1	0	DNAL1	73225851	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.831000	0.86748	2.724000	0.93272	0.563000	0.77884	GAA	DNAL1	-	NULL		0.458	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAL1	HGNC	protein_coding	OTTHUMT00000414565.2	G	NM_031427		74156098	1	no_errors	ENST00000553645	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74156098	G	A	74156098	3	1	97	1	0	0	0	0	1	0	0	0	4667	943	33	1	438	1	DNAL1	14	74156098	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	114458	74156098	33193442	406	14130										
TMEM63C	57156	genome.wustl.edu	37	chr14	77712334	77712334	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgctacatctttctggtgttCatggtagtcattctgccctc	8	11	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:77712334C>T	ENST00000298351.4	+	17	1644	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	500					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTCTGGTGTTCATGGTAGTCA	0.443																																																	0													324	301	308					14																	77712334		1992	4152	6144	SO:0001819	synonymous_variant	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1500C>T	14.37:g.77712334C>T			B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	pfam_DUF221	p.F500	ENST00000298351.4	37	c.1500	CCDS45141.1	14																																																																																			TMEM63C	-	pfam_DUF221		0.443	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	C			77712334	1	no_errors	ENST00000298351	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77712334	C	T	77712334	2	4	97	1	0	0	0	0	0	0	0	1	16222	825	29	1		1	TMEM63C	14	77712334	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3556236	77712334	29637206	407	14131										
NRXN3	9369	genome.wustl.edu	37	chr14	79933648	79933648	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggcccagcacgcggtctgAccgccttgccgtgggcttca	13	16	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:79933648A>T	ENST00000557594.1	+	2	1285	c.332A>T	c.(331-333)gAc>gTc	p.D111V	NRXN3_ENST00000281127.7_Missense_Mutation_p.D111V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.D743V|NRXN3_ENST00000554719.1_Missense_Mutation_p.D743V|NRXN3_ENST00000428277.2_Missense_Mutation_p.D111V	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	111	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACGCGGTCTGACCGCCTTGCC	0.572																																																	0													114	96	102					14																	79933648		2203	4300	6503	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.332A>T	14.37:g.79933648A>T	ENSP00000451672:p.Asp111Val		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1105V	ENST00000557594.1	37	c.3314		14	.	.	.	.	.	.	.	.	.	.	A	30	5.052080	0.93793	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78364	-1.17;-1.17;1.09;1.09;1.09	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.998;0.999;1.0	D	0.91930	0.5554	9	.	.	.	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	111;111;111;743	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	V	1116;1105;743;743;111;111;111	ENSP00000451648:D743V;ENSP00000338349:D743V;ENSP00000451672:D111V;ENSP00000281127:D111V;ENSP00000394426:D111V	.	D	+	2	0	NRXN3	79003401	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.324000	0.96373	2.257000	0.74773	0.533000	0.62120	GAC	NRXN3	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.572	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	A	NM_001105250		79933648	1	no_errors	ENST00000554738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79933648	A	T	79933648	3	4	97	1	0	0	0	0	1	0	0	0	10691	275	10	5	2521	5	NRXN3	14	79933648	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	2221314	79933648	27415892	408	14132										
TSHR	7253	genome.wustl.edu	37	chr14	81534646	81534646	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagctggaatcacactccttCtacaatttgagtaaagtgac	7	10	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:81534646C>T	ENST00000541158.2	+	4	613	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TSHR_ENST00000298171.2_Silent_p.F97F|TSHR_ENST00000342443.6_Silent_p.F97F|TSHR_ENST00000554435.1_Silent_p.F97F|TSHR_ENST00000554263.1_Silent_p.F97F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	97					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CACACTCCTTCTACAATTTGA	0.398			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													113	99	104					14																	81534646		2203	4300	6503	SO:0001819	synonymous_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.291C>T	14.37:g.81534646C>T			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.F97	ENST00000541158.2	37	c.291	CCDS9872.1	14																																																																																			TSHR	-	NULL		0.398	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	C	NM_000369		81534646	1	no_errors	ENST00000298171	ensembl	human	known	70_37	silent	SNP	1.000	T	T	81534646	C	T	81534646	2	4	97	1	0	0	0	0	0	0	0	1	16653	912	32	1		1	TSHR	14	81534646	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1600998	81534646	25814894	409	14133										
C14orf102	55051	genome.wustl.edu	37	chr14	90754812	90754812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcactttcatgtggaatctCagcaggctcgtgtgcatcag	10	11	4	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:90754812C>T	ENST00000354366.3	-	11	3139	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	NRDE2_ENST00000357904.3_Silent_p.L738L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	969																	TGTGGAATCTCAGCAGGCTCG	0.547																																																	0													92	89	90					14																	90754812		2203	4300	6503	SO:0001819	synonymous_variant	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2907G>A	14.37:g.90754812C>T			B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	pfam_NRDE-2	p.L969	ENST00000354366.3	37	c.2907	CCDS9890.1	14																																																																																			NRDE2	-	NULL		0.547	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90754812	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	silent	SNP	0.039	T	T	90754812	C	T	90754812	2	4	97	1	0	0	0	0	0	0	0	1	1739	813	29	1		1	C14orf102	14	90754812	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	9220166	90754812	16594728	410	14134										
C14orf102	55051	genome.wustl.edu	37	chr14	90755022	90755022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggctaattaggcggctacaGgaatcggtgggagctggatt	16	6	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:90755022G>A	ENST00000354366.3	-	11	2929	c.2697C>T	c.(2695-2697)tcC>tcT	p.S899S	NRDE2_ENST00000357904.3_Silent_p.S668S	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	899																	GGCGGCTACAGGAATCGGTGG	0.488																																																	0													60	59	59					14																	90755022		2203	4300	6503	SO:0001819	synonymous_variant	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2697C>T	14.37:g.90755022G>A			B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	pfam_NRDE-2	p.S899	ENST00000354366.3	37	c.2697	CCDS9890.1	14																																																																																			NRDE2	-	NULL		0.488	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	G	NM_017970		90755022	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	silent	SNP	0.001	A	A	90755022	G	A	90755022	2	1	97	1	0	0	0	0	0	0	0	1	1739	987	35	4		4	C14orf102	14	90755022	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	210	90755022	16594518	411	14135										
CDC42BPB	9578	genome.wustl.edu	37	chr14	103434891	103434891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctggtggctttctgaatcatGcacctccttcttcacatttt	6	12	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:103434891G>T	ENST00000361246.2	-	15	2446	c.2158C>A	c.(2158-2160)Cat>Aat	p.H720N		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTGAATCATGCACCTCCTTC	0.423																																																	0													123	122	123					14																	103434891		2203	4300	6503	SO:0001583	missense	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2158C>A	14.37:g.103434891G>T	ENSP00000355237:p.His720Asn			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.H720N	ENST00000361246.2	37	c.2158	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446425	0.43429	.	.	ENSG00000198752	ENST00000361246	T	0.63580	-0.05	4.67	3.78	0.43462	.	0.107759	0.64402	D	0.000004	T	0.54598	0.1868	L	0.45698	1.435	0.54753	D	0.999988	B	0.12630	0.006	B	0.14023	0.01	T	0.52026	-0.8630	10	0.39692	T	0.17	.	13.3211	0.60434	0.0773:0.0:0.9227:0.0	.	720	Q9Y5S2	MRCKB_HUMAN	N	720	ENSP00000355237:H720N	ENSP00000355237:H720N	H	-	1	0	CDC42BPB	102504644	1.000000	0.71417	0.710000	0.30468	0.990000	0.78478	9.805000	0.99149	1.113000	0.41760	0.655000	0.94253	CAT	CDC42BPB	-	NULL		0.423	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103434891	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103434891	G	T	103434891	3	4	97	1	0	0	0	0	1	0	0	0	3078	1319	46	4	3069	4	CDC42BPB	14	103434891	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	12679869	103434891	3914649	412	14136										
CKB	1152	genome.wustl.edu	37	chr14	103988711	103988711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgctcttggcgcgcagctcCgcgtacagctcgggggtcag	16	13	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:103988711C>T	ENST00000348956.2	-	2	477	c.120G>A	c.(118-120)gcG>gcA	p.A40A	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	40	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CGCGCAGCTCCGCGTACAGCT	0.687																																					Esophageal Squamous(186;2492 2823 49929 50127)												0													53	51	52					14																	103988711		2202	4300	6502	SO:0001819	synonymous_variant	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.120G>A	14.37:g.103988711C>T			A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.A40	ENST00000348956.2	37	c.120	CCDS9981.1	14																																																																																			CKB	-	pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N		0.687	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKB	HGNC	protein_coding	OTTHUMT00000415111.1	C			103988711	-1	no_errors	ENST00000348956	ensembl	human	known	70_37	silent	SNP	0.080	T	T	103988711	C	T	103988711	2	4	97	1	0	0	0	0	0	0	0	1	3451	639	23	2		2	CKB	14	103988711	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	553820	103988711	3360829	413	14137										
CDCA4	55038	genome.wustl.edu	37	chr14	105477866	105477866	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggtgccttggtgcctgtgctGaggtgactgggcaaaggtca	17	8	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:105477866G>A	ENST00000336219.3	-	2	556	c.401C>T	c.(400-402)tCa>tTa	p.S134L	CDCA4_ENST00000392590.3_Missense_Mutation_p.S134L	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	134						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGCCTGTGCTGAGGTGACTGG	0.587																																																	0													87	74	79					14																	105477866		2203	4300	6503	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.401C>T	14.37:g.105477866G>A	ENSP00000337226:p.Ser134Leu		Q8TB18|Q9NWK7	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.S134L	ENST00000336219.3	37	c.401	CCDS9996.1	14	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966753	0.34659	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.47869	0.83;0.83	4.41	1.48	0.22813	.	0.813685	0.11198	N	0.589143	T	0.36608	0.0973	M	0.63843	1.955	0.09310	N	1	P	0.38922	0.651	B	0.27887	0.084	T	0.13176	-1.0519	10	0.39692	T	0.17	-15.2933	6.7698	0.23587	0.1656:0.1456:0.6888:0.0	.	134	Q9BXL8	CDCA4_HUMAN	L	134	ENSP00000337226:S134L;ENSP00000376369:S134L	ENSP00000337226:S134L	S	-	2	0	CDCA4	104548911	0.967000	0.33354	0.000000	0.03702	0.001000	0.01503	6.375000	0.73137	0.071000	0.16664	-0.142000	0.14014	TCA	CDCA4	-	NULL		0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	G	NM_145701		105477866	-1	no_errors	ENST00000336219	ensembl	human	known	70_37	missense	SNP	0.001	A	A	105477866	G	A	105477866	3	1	97	1	0	0	0	0	1	0	0	0	3093	1294	45	1	328	1	CDCA4	14	105477866	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1489155	105477866	1871674	414	14138										
TMEM121	80757	genome.wustl.edu	37	chr14	105995723	105995723	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgggccgagggcctcaccttCttctactgctacatgctgct	10	14	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:105995723C>G	ENST00000392519.2	+	2	716	c.552C>G	c.(550-552)ttC>ttG	p.F184L	TMEM121_ENST00000431372.1_Missense_Mutation_p.F184L	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	184						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCCTCACCTTCTTCTACTGCT	0.667																																																	0													13	14	14					14																	105995723		2003	3800	5803	SO:0001583	missense	80757				CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.552C>G	14.37:g.105995723C>G	ENSP00000376304:p.Phe184Leu			Missense_Mutation	SNP	NULL	p.F184L	ENST00000392519.2	37	c.552	CCDS10006.1	14	.	.	.	.	.	.	.	.	.	.	c	18.81	3.703518	0.68501	.	.	ENSG00000184986	ENST00000392519;ENST00000431372	.	.	.	4.29	0.785	0.18584	.	0.000000	0.85682	U	0.000000	T	0.45175	0.1329	L	0.32530	0.975	0.51233	D	0.999916	D	0.56287	0.975	P	0.52957	0.714	T	0.41592	-0.9500	9	0.72032	D	0.01	-6.964	4.2847	0.10850	0.0:0.4797:0.1818:0.3384	.	184	Q9BTD3	TM121_HUMAN	L	184	.	ENSP00000376304:F184L	F	+	3	2	TMEM121	105066768	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.727000	0.47311	0.753000	0.32945	0.306000	0.20318	TTC	TMEM121	-	NULL		0.667	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM121	HGNC	protein_coding	OTTHUMT00000074621.2	C	NM_025268		105995723	1	no_errors	ENST00000392519	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105995723	C	G	105995723	3	3	97	1	0	0	0	0	1	0	0	0	16065	912	32	1	554	1	TMEM121	14	105995723	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	517857	105995723	1353817	415	14139										
PLA2G4F	255189	genome.wustl.edu	37	chr15	42434798	42434798	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aatgggggagcgggggtcctCagccttggcaaacagatagc	16	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:42434798C>T	ENST00000382396.4	-	19	2343	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E755K			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	753	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CGGGGGTCCTCAGCCTTGGCA	0.617																																																	0													77	70	72					15																	42434798		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2257G>A	15.37:g.42434798C>T	ENSP00000371833:p.Glu753Lys		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E755K	ENST00000382396.4	37	c.2263	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512762	0.27123	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.04194	3.68;3.68	4.88	0.924	0.19418	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.803881	0.11226	N	0.586163	T	0.03651	0.0104	L	0.33189	0.99	0.09310	N	1	P;B;P	0.39665	0.682;0.037;0.546	B;B;B	0.32980	0.156;0.066;0.115	T	0.45116	-0.9283	10	0.29301	T	0.29	-4.3982	8.5114	0.33220	0.0:0.6217:0.0:0.3783	.	540;755;753	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	K	749;755;753;753	ENSP00000380442:E755K;ENSP00000371833:E753K	ENSP00000290497:E749K	E	-	1	0	PLA2G4F	40222090	0.001000	0.12720	0.009000	0.14445	0.308000	0.27856	0.116000	0.15561	0.099000	0.17552	-0.136000	0.14681	GAG	PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	C	NM_213600		42434798	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	missense	SNP	0.004	T	T	42434798	C	T	42434798	3	4	97	1	0	0	0	0	1	0	0	0	12030	835	29	1	300	1	PLA2G4F	15	42434798	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		42434798	60096594	416	14140										
PLA2G4F	255189	genome.wustl.edu	37	chr15	42434897	42434897	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcggtccaggcagtacttctCtgtcatcttcaagacctgag	9	12	4	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:42434897C>T	ENST00000382396.4	-	19	2244	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E722K			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	720	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGTACTTCTCTGTCATCTTC	0.602																																																	0													75	62	67					15																	42434897		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2158G>A	15.37:g.42434897C>T	ENSP00000371833:p.Glu720Lys		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E722K	ENST00000382396.4	37	c.2164	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906173	0.52333	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.15256	2.44;2.44	4.69	4.69	0.59074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.107189	0.41605	D	0.000857	T	0.21387	0.0515	M	0.76170	2.325	0.29575	N	0.8496	P;B;P	0.49185	0.851;0.27;0.92	B;B;B	0.44108	0.297;0.254;0.441	T	0.13548	-1.0505	10	0.30078	T	0.28	-35.1371	8.5297	0.33326	0.1502:0.6394:0.2104:0.0	.	507;722;720	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	K	716;722;720;720	ENSP00000380442:E722K;ENSP00000371833:E720K	ENSP00000290497:E716K	E	-	1	0	PLA2G4F	40222189	0.669000	0.27502	1.000000	0.80357	0.904000	0.53231	1.241000	0.32743	2.618000	0.88619	0.591000	0.81541	GAG	PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	C	NM_213600		42434897	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	missense	SNP	0.998	T	T	42434897	C	T	42434897	3	4	97	1	0	0	0	0	1	0	0	0	12030	922	32	1	399	1	PLA2G4F	15	42434897	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	99	42434897	60096495	417	14141										
HAUS2	55142	genome.wustl.edu	37	chr15	42853526	42853526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttggaagcagtgctgaaagaGaagagatcccttaggcaaag	13	6	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:42853526G>C	ENST00000260372.3	+	4	378	c.315G>C	c.(313-315)gaG>gaC	p.E105D	HAUS2_ENST00000568876.1_Missense_Mutation_p.E74D|HAUS2_ENST00000568846.2_3'UTR	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	105					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						TGCTGAAAGAGAAGAGATCCC	0.358																																																	0													118	111	113					15																	42853526		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.315G>C	15.37:g.42853526G>C	ENSP00000260372:p.Glu105Asp		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E105D	ENST00000260372.3	37	c.315	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650745	0.47362	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46819	0.86	5.9	1.74	0.24563	.	0.157403	0.53938	D	0.000048	T	0.42040	0.1185	M	0.75264	2.295	0.35085	D	0.763767	B;B	0.24533	0.084;0.105	B;B	0.18263	0.019;0.021	T	0.45352	-0.9267	10	0.52906	T	0.07	-1.4321	5.4727	0.16678	0.3556:0.0:0.5227:0.1217	.	74;105	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	D	105;74	ENSP00000260372:E105D	ENSP00000260372:E105D	E	+	3	2	HAUS2	40640818	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	0.778000	0.26732	0.340000	0.23745	0.655000	0.94253	GAG	HAUS2	-	NULL		0.358	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42853526	1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	0.997	C	C	42853526	G	C	42853526	3	2	97	1	0	0	0	0	1	0	0	0	6986	933	33	1	329	1	HAUS2	15	42853526	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	418629	42853526	59677866	418	14142										
TTBK2	146057	genome.wustl.edu	37	chr15	43103915	43103915	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tatttttctccagggcagctGaccaaccacaaactccacca	5	15	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:43103915G>T	ENST00000267890.6	-	8	775	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	TTBK2_ENST00000567274.1_Missense_Mutation_p.Q188K|TTBK2_ENST00000567840.1_Missense_Mutation_p.Q223K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAGGGCAGCTGACCAACCACA	0.358																																																	0													91	84	86					15																	43103915		1879	4125	6004	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.667C>A	15.37:g.43103915G>T	ENSP00000267890:p.Gln223Lys		O94932|Q6ZN52|Q8IVV1	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.Q223K	ENST00000267890.6	37	c.667	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720676	0.89205	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.63255	-0.03	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	N	0.11255	0.115	0.80722	D	1	D;D;P;D	0.60575	0.976;0.988;0.93;0.98	D;D;P;D	0.65684	0.928;0.937;0.79;0.928	T	0.72792	-0.4186	10	0.87932	D	0	.	19.5504	0.95315	0.0:0.0:1.0:0.0	.	203;154;223;223	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	K	223;153;203	ENSP00000267890:Q223K	ENSP00000263802:Q203K	Q	-	1	0	TTBK2	40891207	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.701000	0.98710	2.612000	0.88384	0.655000	0.94253	CAG	TTBK2	-	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		0.358	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	G	NM_173500		43103915	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43103915	G	T	43103915	3	4	97	1	0	0	0	0	1	0	0	0	16708	1299	45	3	3099	3	TTBK2	15	43103915	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	250389	43103915	59427477	419	14143										
MAP1A	4130	genome.wustl.edu	37	chr15	43817874	43817874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catgtaaagaatgaggctgtGaaacagcaggataaggcttt	12	5	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:43817874G>A	ENST00000300231.5	+	4	4653	c.4203G>A	c.(4201-4203)gtG>gtA	p.V1401V	MAP1A_ENST00000382031.1_Silent_p.V1639V|MAP1A_ENST00000399453.1_Silent_p.V1401V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1401					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.V1401V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGAGGCTGTGAAACAGCAGG	0.463																																																	1	Substitution - coding silent(1)	lung(1)											83	81	82					15																	43817874		1897	4121	6018	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4203G>A	15.37:g.43817874G>A			O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.V1401	ENST00000300231.5	37	c.4203	CCDS42031.1	15																																																																																			MAP1A	-	NULL		0.463	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43817874	1	no_errors	ENST00000399453	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43817874	G	A	43817874	2	1	97	1	0	0	0	0	0	0	0	1	9250	1277	45	1		1	MAP1A	15	43817874	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	713959	43817874	58713518	420	14144										
STRC	161497	genome.wustl.edu	37	chr15	43893150	43893150	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cccagcgctgtcagatgaacGaagtccaggtggctcacatg	12	12	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:43893150G>A	ENST00000450892.2	-	25	4841	c.4764C>T	c.(4762-4764)ttC>ttT	p.F1588F	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.F815F	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1588					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGATGAACGAAGTCCAGGT	0.582																																																	0													28	36	33					15																	43893150		2190	4270	6460	SO:0001819	synonymous_variant	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4764C>T	15.37:g.43893150G>A				Silent	SNP	NULL	p.F1588	ENST00000450892.2	37	c.4764	CCDS10098.1	15																																																																																			STRC	-	NULL		0.582	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		43893150	-1	no_errors	ENST00000450892	ensembl	human	known	70_37	silent	SNP	0.998	A	A	43893150	G	A	43893150	2	1	97	1	0	0	0	0	0	0	0	1	15358	1049	37	1		1	STRC	15	43893150	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	75276	43893150	58638242	421	14145										
GLDN	342035	genome.wustl.edu	37	chr15	51696532	51696532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgaaaatgccttgtattttGatcgaaaatacctttttgca	6	6	0	2	rs376274659		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:51696532G>A	ENST00000335449.6	+	10	1293	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	GLDN_ENST00000396399.2_Missense_Mutation_p.D289N	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	413	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTTGTATTTTGATCGAAAATA	0.378																																																	0													130	138	135					15																	51696532		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1237G>A	15.37:g.51696532G>A	ENSP00000335196:p.Asp413Asn		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.D413N	ENST00000335449.6	37	c.1237	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247530	0.22880	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88818	-2.43;-2.43	5.71	5.71	0.89125	Olfactomedin-like (3);	0.153654	0.30277	N	0.009990	T	0.70176	0.3194	N	0.01454	-0.855	0.37541	D	0.918314	B	0.14012	0.009	B	0.17098	0.017	T	0.69529	-0.5121	10	0.06625	T	0.88	.	13.1002	0.59216	0.073:0.0:0.927:0.0	.	413	Q6ZMI3	GLDN_HUMAN	N	413;289;289	ENSP00000335196:D413N;ENSP00000379681:D289N	ENSP00000335196:D413N	D	+	1	0	GLDN	49483824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.929000	0.63455	2.711000	0.92665	0.563000	0.77884	GAT	GLDN	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	G	NM_181789		51696532	1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51696532	G	A	51696532	3	1	97	1	0	0	0	0	1	0	0	0	6453	1290	45	1	1275	1	GLDN	15	51696532	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7803382	51696532	50834860	422	14146										
DMXL2	23312	genome.wustl.edu	37	chr15	51778394	51778394	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggatgtaatcttttgcaactGaatcctgagccatccttttg	8	9	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:51778394G>A	ENST00000251076.5	-	23	5645	c.5358C>T	c.(5356-5358)ttC>ttT	p.F1786F	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.F1150F|DMXL2_ENST00000543779.2_Silent_p.F1786F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1786						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTTGCAACTGAATCCTGAGC	0.398																																																	0													112	108	109					15																	51778394		2196	4293	6489	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5358C>T	15.37:g.51778394G>A			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1786	ENST00000251076.5	37	c.5358	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51778394	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	silent	SNP	0.959	A	A	51778394	G	A	51778394	2	1	97	1	0	0	0	0	0	0	0	1	4605	1281	45	1		1	DMXL2	15	51778394	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	81862	51778394	50752998	423	14147										
MYO5A	4644	genome.wustl.edu	37	chr15	52656783	52656783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catctcttccttgaggtcatCatatctttcttccaggcgac	6	13	5	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:52656783C>T	ENST00000399231.3	-	24	3520	c.3277G>A	c.(3277-3279)Gat>Aat	p.D1093N	MYO5A_ENST00000358212.6_Missense_Mutation_p.D1093N|MYO5A_ENST00000356338.6_Missense_Mutation_p.D1093N|MYO5A_ENST00000553916.1_Missense_Mutation_p.D1093N|MYO5A_ENST00000399233.2_Missense_Mutation_p.D1093N	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1093					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGAGGTCATCATATCTTTCT	0.343																																																	0													160	144	149					15																	52656783		1841	4086	5927	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3277G>A	15.37:g.52656783C>T	ENSP00000382177:p.Asp1093Asn		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1093N	ENST00000399231.3	37	c.3277	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.187380	0.94923	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.22	5.22	0.72569	.	0.047236	0.85682	D	0.000000	T	0.22898	0.0553	L	0.57536	1.79	0.80722	D	1	P;P	0.47302	0.458;0.893	B;B	0.35813	0.091;0.211	T	0.06127	-1.0844	10	0.42905	T	0.14	.	19.1421	0.93449	0.0:1.0:0.0:0.0	.	1093;1093	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	N	1093;627;1093;1093;1093;723;1093	ENSP00000382177:D1093N;ENSP00000382179:D1093N;ENSP00000348693:D1093N;ENSP00000350945:D1093N;ENSP00000451109:D1093N	ENSP00000348693:D1093N	D	-	1	0	MYO5A	50444075	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.723000	0.68492	2.590000	0.87494	0.655000	0.94253	GAT	MYO5A	-	NULL		0.343	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52656783	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52656783	C	T	52656783	3	4	97	1	0	0	0	0	1	0	0	0	10101	826	29	1	2362	1	MYO5A	15	52656783	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	878389	52656783	49874609	424	14148										
PRTG	283659	genome.wustl.edu	37	chr15	55912932	55912932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agagttgtttttaattatagGaccatagctattaattatca	6	4	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:55912932G>C	ENST00000389286.4	-	19	3174	c.3127C>G	c.(3127-3129)Cct>Gct	p.P1043A		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTAATTATAGGACCATAGCTA	0.323																																																	0													55	55	55					15																	55912932		1789	4051	5840	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3127C>G	15.37:g.55912932G>C	ENSP00000373937:p.Pro1043Ala			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1043A	ENST00000389286.4	37	c.3127	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382148	0.82792	.	.	ENSG00000166450	ENST00000389286	T	0.60424	0.19	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75496	-0.3297	10	0.66056	D	0.02	-19.6207	19.2865	0.94077	0.0:0.0:1.0:0.0	.	1043	Q2VWP7	PRTG_HUMAN	A	1043	ENSP00000373937:P1043A	ENSP00000373937:P1043A	P	-	1	0	PRTG	53700224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.289000	0.72696	2.802000	0.96397	0.655000	0.94253	CCT	PRTG	-	NULL		0.323	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	G	NM_173814		55912932	-1	no_errors	ENST00000389286	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55912932	G	C	55912932	3	2	97	1	0	0	0	0	1	0	0	0	12665	1174	41	1	333	1	PRTG	15	55912932	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3256149	55912932	46618460	425	14149										
CA12	771	genome.wustl.edu	37	chr15	63619425	63619425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccagccagggccagtgagagGatgatgcctggtgaagaggt	17	8	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63619425G>A	ENST00000178638.3	-	10	1355	c.915C>T	c.(913-915)atC>atT	p.I305I	CA12_ENST00000344366.3_Silent_p.I294I|CA12_ENST00000560666.1_5'UTR|CA12_ENST00000422263.2_Silent_p.I234I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	305				I -> T (in Ref. 4; BAG38121). {ECO:0000305}.	bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CCAGTGAGAGGATGATGCCTG	0.532																																																	0													198	161	174					15																	63619425		2203	4300	6503	SO:0001819	synonymous_variant	771			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.915C>T	15.37:g.63619425G>A			B2RE24|Q53YE5|Q9BWG2	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.I305	ENST00000178638.3	37	c.915	CCDS10185.1	15																																																																																			CA12	-	NULL		0.532	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CA12	HGNC	protein_coding	OTTHUMT00000256370.1	G	NM_001218		63619425	-1	no_errors	ENST00000178638	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63619425	G	A	63619425	2	1	97	1	0	0	0	0	0	0	0	1	2518	1164	41	1		1	CA12	15	63619425	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7706493	63619425	38911967	426	14150										
HERC1	8925	genome.wustl.edu	37	chr15	63916527	63916527	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttataatgggatgtgctgttCtgtaacagaaggtacggtta	12	4	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63916527C>G	ENST00000443617.2	-	72	13363		c.e72-1			NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGTGCTGTTCTGTAACAGAA	0.428																																																	0													119	108	112					15																	63916527		1878	4121	5999	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13276-1G>C	15.37:g.63916527C>G			Q8IW65	Splice_Site	SNP	-	e71-1	ENST00000443617.2	37	c.13276-1	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462902	0.84425	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8411	0.92184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61703580	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.465000	0.80898	2.501000	0.84356	0.655000	0.94253	.	HERC1	-	-		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922	Intron	63916527	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	63916527	C	G	63916527	5	3	97	1	0	0	0	0	0	0	1	0	7077	927	32	1	1338	1	HERC1	15	63916527	Splice_Site	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	297102	63916527	38614865	427	14151										
HERC1	8925	genome.wustl.edu	37	chr15	63918234	63918234	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaggatgagtacatgaggtCagagaagtggtagagcagcc	15	7	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63918234C>T	ENST00000443617.2	-	71	13312	c.13225G>A	c.(13225-13227)Gac>Aac	p.D4409N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4409					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACATGAGGTCAGAGAAGTGG	0.597																																																	0													64	67	66					15																	63918234		2066	4202	6268	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13225G>A	15.37:g.63918234C>T	ENSP00000390158:p.Asp4409Asn		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.D4409N	ENST00000443617.2	37	c.13225	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038268	0.93630	.	.	ENSG00000103657	ENST00000443617	T	0.27720	1.65	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.50333	1.59	0.80722	D	1	P	0.40970	0.734	B	0.42798	0.398	T	0.07849	-1.0751	10	0.46703	T	0.11	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	4409	Q15751	HERC1_HUMAN	N	4409	ENSP00000390158:D4409N	ENSP00000390158:D4409N	D	-	1	0	HERC1	61705287	1.000000	0.71417	0.969000	0.41365	0.544000	0.35116	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	GAC	HERC1	-	NULL		0.597	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		63918234	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63918234	C	T	63918234	3	4	97	1	0	0	0	0	1	0	0	0	7077	826	29	1	1392	1	HERC1	15	63918234	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1707	63918234	38613158	428	14152										
HERC1	8925	genome.wustl.edu	37	chr15	64039150	64039150	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tctgggacagttgagtccatCagtctgaagagcaaatttcg	11	8	3	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:64039150C>A	ENST00000443617.2	-	12	2574	c.2487G>T	c.(2485-2487)ctG>ctT	p.L829L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	829					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGTCCATCAGTCTGAAGA	0.458																																																	0													49	45	46					15																	64039150		1897	4074	5971	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2487G>T	15.37:g.64039150C>A			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L829	ENST00000443617.2	37	c.2487	CCDS45277.1	15																																																																																			HERC1	-	NULL		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		64039150	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64039150	C	A	64039150	2	1	97	1	0	0	0	0	0	0	0	1	7077	813	29	3		3	HERC1	15	64039150	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	120916	64039150	38492242	429	14153										
DPP8	54878	genome.wustl.edu	37	chr15	65756239	65756239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggaggagtatagtcaggaaGaggacctgtgaataggtaac	15	4	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:65756239G>A	ENST00000341861.5	-	15	3459	c.1879C>T	c.(1879-1881)Ctt>Ttt	p.L627F	DPP8_ENST00000300141.6_Missense_Mutation_p.L611F|DPP8_ENST00000321118.7_Missense_Mutation_p.L627F|DPP8_ENST00000339244.5_Missense_Mutation_p.L454F|DPP8_ENST00000559233.1_Missense_Mutation_p.L627F|DPP8_ENST00000358939.4_Missense_Mutation_p.L611F|DPP8_ENST00000321147.6_Missense_Mutation_p.L627F	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	627					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGTCAGGAAGAGGACCTGTG	0.403																																																	0													57	58	58					15																	65756239		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1879C>T	15.37:g.65756239G>A	ENSP00000339208:p.Leu627Phe		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.L627F	ENST00000341861.5	37	c.1879	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668320	0.47677	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T	0.52526	0.66;0.67	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000005	T	0.58680	0.2139	L	0.47716	1.5	0.54753	D	0.999988	B;P;D;P;B	0.69078	0.083;0.473;0.997;0.473;0.342	B;B;P;B;B	0.62184	0.122;0.299;0.899;0.299;0.157	T	0.46965	-0.9153	10	0.10111	T	0.7	-0.1826	19.9326	0.97124	0.0:0.0:1.0:0.0	rs34898704	454;611;611;627;627	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	F	627;611;611;627;627;454;627	ENSP00000339208:L627F;ENSP00000300141:L611F	ENSP00000300141:L611F	L	-	1	0	DPP8	63543292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.004000	0.70709	2.720000	0.93068	0.650000	0.86243	CTT	DPP8	-	NULL		0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65756239	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65756239	G	A	65756239	3	1	97	1	0	0	0	0	1	0	0	0	4742	942	33	1	841	1	DPP8	15	65756239	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1717089	65756239	36775153	430	14154										
MYO9A	4649	genome.wustl.edu	37	chr15	72120255	72120255	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agagatagcatattcagactCcatattcaaattctctgagc	6	9	3	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:72120255C>A	ENST00000356056.5	-	41	7625	c.7153G>T	c.(7153-7155)Gag>Tag	p.E2385*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E2456*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E2366*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E2385*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2385	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTCAGACTCCATATTCAAA	0.418																																																	0													100	101	101					15																	72120255		2199	4297	6496	SO:0001587	stop_gained	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7153G>T	15.37:g.72120255C>A	ENSP00000348349:p.Glu2385*		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E2456*	ENST00000356056.5	37	c.7366	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.696271	0.98438	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.84	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.8573	0.86009	0.0:0.8714:0.1286:0.0	.	.	.	.	X	2385;2456;2366	.	ENSP00000348349:E2385X	E	-	1	0	MYO9A	69907309	1.000000	0.71417	0.978000	0.43139	0.958000	0.62258	4.578000	0.60929	1.450000	0.47717	0.655000	0.94253	GAG	MYO9A	-	NULL		0.418	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72120255	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	72120255	C	A	72120255	4	1	97	1	0	0	0	0	0	1	0	0	10107	864	30	3	501	3	MYO9A	15	72120255	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6364016	72120255	30411137	431	14155										
MYO9A	4649	genome.wustl.edu	37	chr15	72172110	72172110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atattctgccgaaattccttCagggcttttttaaatacaac	5	9	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:72172110C>T	ENST00000356056.5	-	30	6163	c.5691G>A	c.(5689-5691)ctG>ctA	p.L1897L	MYO9A_ENST00000424560.1_Silent_p.L1968L|MYO9A_ENST00000444904.1_Silent_p.L1878L|MYO9A_ENST00000564571.1_Silent_p.L1897L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1897	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAATTCCTTCAGGGCTTTTT	0.363																																																	0													108	105	106					15																	72172110		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5691G>A	15.37:g.72172110C>T			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L1968	ENST00000356056.5	37	c.5904	CCDS10239.1	15																																																																																			MYO9A	-	NULL		0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72172110	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	silent	SNP	0.999	T	T	72172110	C	T	72172110	2	4	97	1	0	0	0	0	0	0	0	1	10107	813	29	1		1	MYO9A	15	72172110	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	51855	72172110	30359282	432	14156										
LMAN1L	79748	genome.wustl.edu	37	chr15	75105286	75105286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agacggggtgtcctcctctaCgcaggtttgagtacaagctc	12	11	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:75105286C>T	ENST00000309664.5	+	1	230	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R31C	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	31	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCCTCTACGCAGGTTTGA	0.617																																																	0													118	108	111					15																	75105286		2197	4296	6493	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.91C>T	15.37:g.75105286C>T	ENSP00000310431:p.Arg31Cys		Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.R31C	ENST00000309664.5	37	c.91	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137107	0.37728	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.63913	-0.07;-0.07	5.02	3.11	0.35812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.208226	0.32273	N	0.006323	T	0.77698	0.4169	M	0.86420	2.815	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76170	-0.3057	10	0.87932	D	0	.	6.2059	0.20602	0.1958:0.7075:0.0:0.0967	.	31;31	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	C	31	ENSP00000310431:R31C;ENSP00000369031:R31C	ENSP00000310431:R31C	R	+	1	0	LMAN1L	72892339	0.899000	0.30636	0.395000	0.26283	0.074000	0.17049	1.604000	0.36804	0.501000	0.28013	0.447000	0.29281	CGC	LMAN1L	-	superfamily_ConA-like_lec_gl_sf		0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	C			75105286	1	no_errors	ENST00000309664	ensembl	human	known	70_37	missense	SNP	0.776	T	T	75105286	C	T	75105286	3	4	97	1	0	0	0	0	1	0	0	0	8858	536	19	2	93	2	LMAN1L	15	75105286	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2933176	75105286	27426106	433	14157										
SNX33	257364	genome.wustl.edu	37	chr15	75941967	75941967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagcctggcatctgccaagcGaggcagtgtggtgggccgta	16	11	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:75941967G>A	ENST00000308527.5	+	1	1721	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	175					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCTGCCAAGCGAGGCAGTGTG	0.617																																																	0													60	61	60					15																	75941967		2197	4294	6491	SO:0001583	missense	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.524G>A	15.37:g.75941967G>A	ENSP00000311427:p.Arg175Gln		B1NM17	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.R175Q	ENST00000308527.5	37	c.524	CCDS10283.1	15	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888263	0.52014	.	.	ENSG00000173548	ENST00000308527	T	0.64260	-0.09	5.11	4.19	0.49359	.	0.237778	0.38111	N	0.001812	T	0.42698	0.1214	L	0.39898	1.24	0.44539	D	0.997496	P	0.44006	0.824	B	0.25405	0.06	T	0.41840	-0.9486	10	0.11794	T	0.64	-0.144	13.8991	0.63792	0.0:0.0:0.8467:0.1533	.	175	Q8WV41	SNX33_HUMAN	Q	175	ENSP00000311427:R175Q	ENSP00000311427:R175Q	R	+	2	0	SNX33	73729022	1.000000	0.71417	0.893000	0.35052	0.996000	0.88848	7.091000	0.76923	1.370000	0.46153	0.650000	0.86243	CGA	SNX33	-	pirsf_Snx9		0.617	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	HGNC	protein_coding	OTTHUMT00000286471.1	G	NM_153271		75941967	1	no_errors	ENST00000308527	ensembl	human	known	70_37	missense	SNP	0.996	A	A	75941967	G	A	75941967	3	1	97	1	0	0	0	0	1	0	0	0	14933	1058	37	1	526	1	SNX33	15	75941967	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	836681	75941967	26589425	434	14158										
SGK269	79834	genome.wustl.edu	37	chr15	77426003	77426003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agcattgggtgcttcttggtCtgttttccctccaaaggcga	11	10	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:77426003C>G	ENST00000560626.2	-	6	3896	c.3421G>C	c.(3421-3423)Gac>Cac	p.D1141H	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1141H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1141					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTTCTTGGTCTGTTTTCCCT	0.517																																																	0													104	98	100					15																	77426003		1980	4147	6127	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3421G>C	15.37:g.77426003C>G	ENSP00000452796:p.Asp1141His		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	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,pfscan_Prot_kinase_cat_dom	p.D1141H	ENST00000560626.2	37	c.3421	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840558	0.16891	.	.	ENSG00000173517	ENST00000312493	T	0.71103	-0.54	5.58	4.67	0.58626	.	0.350887	0.30210	N	0.010154	T	0.54870	0.1885	N	0.24115	0.695	0.41171	D	0.986167	B	0.21381	0.055	B	0.15052	0.012	T	0.53208	-0.8471	10	0.46703	T	0.11	-10.4508	9.9248	0.41485	0.0:0.7886:0.1387:0.0727	.	1141	Q9H792	PEAK1_HUMAN	H	1141	ENSP00000309230:D1141H	ENSP00000309230:D1141H	D	-	1	0	AC087465.1	75213058	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	4.373000	0.59537	1.375000	0.46248	0.561000	0.74099	GAC	PEAK1	-	NULL		0.517	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77426003	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	0.994	G	G	77426003	C	G	77426003	3	3	97	1	0	0	0	0	1	0	0	0	14241	913	32	1	1827	1	SGK269	15	77426003	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1484036	77426003	25105389	435	14159										
FAH	2184	genome.wustl.edu	37	chr15	80464522	80464522	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggccctggaaacagattggGagagccgatccccatttcca	11	12	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:80464522G>C	ENST00000407106.1	+	9	793	c.638G>C	c.(637-639)gGa>gCa	p.G213A	FAH_ENST00000561421.1_Missense_Mutation_p.G213A|FAH_ENST00000261755.5_Missense_Mutation_p.G213A|FAH_ENST00000539156.1_Missense_Mutation_p.G143A|FAH_ENST00000558627.1_3'UTR			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	213					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACAGATTGGGAGAGCCGATC	0.498									Tyrosinemia, type 1																																								0													104	102	103					15																	80464522		2203	4300	6503	SO:0001583	missense	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.638G>C	15.37:g.80464522G>C	ENSP00000385080:p.Gly213Ala		B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.G213A	ENST00000407106.1	37	c.638	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422230	0.83559	.	.	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.94966	-3.57;-3.57;-3.57	4.87	4.87	0.63330	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.92459	3.31	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	D	0.98503	1.0615	10	0.87932	D	0	-13.4853	16.7757	0.85550	0.0:0.0:1.0:0.0	.	213	P16930	FAAA_HUMAN	A	213;213;143	ENSP00000385080:G213A;ENSP00000261755:G213A;ENSP00000454271:G143A	ENSP00000261755:G213A	G	+	2	0	FAH	78251577	1.000000	0.71417	0.913000	0.36048	0.877000	0.50540	8.792000	0.91856	2.258000	0.74832	0.561000	0.74099	GGA	FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase		0.498	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	G			80464522	1	no_errors	ENST00000261755	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80464522	G	C	80464522	3	2	97	1	0	0	0	0	1	0	0	0	5386	1174	41	1	668	1	FAH	15	80464522	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3038519	80464522	22066870	436	14160										
ALPK3	57538	genome.wustl.edu	37	chr15	85400594	85400594	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tctcttcctggaactgggctGacagctagcccaaaggcggg	13	12	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:85400594G>C	ENST00000258888.5	+	6	3398	c.3231G>C	c.(3229-3231)ctG>ctC	p.L1077L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1077					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAACTGGGCTGACAGCTAGCC	0.627																																																	0													67	52	57					15																	85400594		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3231G>C	15.37:g.85400594G>C			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L1077	ENST00000258888.5	37	c.3231	CCDS10333.1	15																																																																																			ALPK3	-	NULL		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85400594	1	no_errors	ENST00000258888	ensembl	human	known	70_37	silent	SNP	0.000	C	C	85400594	G	C	85400594	2	2	97	1	0	0	0	0	0	0	0	1	546	1277	45	1		1	ALPK3	15	85400594	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4936072	85400594	17130798	437	14161										
SLC28A1	9154	genome.wustl.edu	37	chr15	85438326	85438326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggtttctcaagcctcagggcCatccccgcctgctgctctgg	11	16	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:85438326C>T	ENST00000286749.3	+	5	523	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	SLC28A1_ENST00000538177.1_Missense_Mutation_p.H145Y|SLC28A1_ENST00000537703.1_Missense_Mutation_p.H67Y|SLC28A1_ENST00000537216.1_Missense_Mutation_p.H145Y|SLC28A1_ENST00000537624.1_Missense_Mutation_p.H145Y|SLC28A1_ENST00000338602.2_Missense_Mutation_p.H145Y|SLC28A1_ENST00000394573.1_Missense_Mutation_p.H145Y			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	145					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCCTCAGGGCCATCCCCGCCT	0.622																																																	0													44	46	45					15																	85438326		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.433C>T	15.37:g.85438326C>T	ENSP00000286749:p.His145Tyr		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.H145Y	ENST00000286749.3	37	c.433	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.428659	0.01117	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.58	2.49	0.30216	.	0.487934	0.23620	N	0.046251	D	0.85318	0.5669	M	0.67953	2.075	0.09310	N	1	P;P;P;P;B;D	0.76494	0.58;0.676;0.88;0.708;0.437;0.999	B;B;B;B;B;D	0.64877	0.222;0.395;0.424;0.177;0.222;0.93	T	0.75797	-0.3191	10	0.59425	D	0.04	-1.0436	9.1251	0.36810	0.5416:0.4584:0.0:0.0	.	145;145;145;67;145;145	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337;O00337-2	.;.;.;.;S28A1_HUMAN;.	Y	145;145;145;145;145;145;67	ENSP00000341629:H145Y;ENSP00000440546:H145Y;ENSP00000443752:H145Y;ENSP00000444700:H145Y;ENSP00000286749:H145Y;ENSP00000378074:H145Y;ENSP00000443764:H67Y	ENSP00000286749:H145Y	H	+	1	0	SLC28A1	83239330	0.001000	0.12720	0.033000	0.17914	0.033000	0.12548	0.703000	0.25646	0.544000	0.28883	0.655000	0.94253	CAT	SLC28A1	-	NULL		0.622	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	C			85438326	1	no_errors	ENST00000286749	ensembl	human	known	70_37	missense	SNP	0.019	T	T	85438326	C	T	85438326	3	4	97	1	0	0	0	0	1	0	0	0	14561	594	21	4	447	4	SLC28A1	15	85438326	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	37732	85438326	17093066	438	14162										
SLC28A1	9154	genome.wustl.edu	37	chr15	85476463	85476463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggtctacccggaggtggagGagtccaagtttaggagggag	18	6	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:85476463G>A	ENST00000286749.3	+	12	1261	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E391K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E391K|SLC28A1_ENST00000394573.1_Missense_Mutation_p.E391K			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	391					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGAGGTGGAGGAGTCCAAGTT	0.577																																																	0													128	107	114					15																	85476463		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1171G>A	15.37:g.85476463G>A	ENSP00000286749:p.Glu391Lys		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.E391K	ENST00000286749.3	37	c.1171	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741683	0.15642	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	4.39	2.47	0.30058	Na dependent nucleoside transporter, C-terminal (1);	0.160820	0.53938	N	0.000044	T	0.07908	0.0198	L	0.33753	1.03	0.80722	D	1	B;B;B	0.22541	0.071;0.003;0.071	B;B;B	0.37888	0.173;0.03;0.26	T	0.19386	-1.0307	10	0.10377	T	0.69	-9.1211	8.7315	0.34503	0.1933:0.0:0.8067:0.0	.	391;391;391	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	K	391	ENSP00000440546:E391K;ENSP00000444700:E391K;ENSP00000286749:E391K;ENSP00000378074:E391K	ENSP00000286749:E391K	E	+	1	0	SLC28A1	83277467	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.637000	0.54324	1.065000	0.40693	-0.262000	0.10625	GAG	SLC28A1	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.577	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	G			85476463	1	no_errors	ENST00000286749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85476463	G	A	85476463	3	1	97	1	0	0	0	0	1	0	0	0	14561	1175	41	1	1284	1	SLC28A1	15	85476463	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	38137	85476463	17054929	439	14163										
POLG	5428	genome.wustl.edu	37	chr15	89876861	89876861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctgctgctgctgctgctgcCgccgccgctgcccgtcgctg	14	18	0	0	rs74382477		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:89876861C>T	ENST00000268124.5	-	2	458	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_Missense_Mutation_p.R42Q	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	42					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ctgctgctgccgccgccgctg	0.736								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0																																										SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.125G>A	15.37:g.89876861C>T	ENSP00000268124:p.Arg42Gln		Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.R42Q	ENST00000268124.5	37	c.125	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137797	0.09032	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96200	-3.94;-3.94	2.53	-0.795	0.10915	.	0.227039	0.13631	U	0.373696	D	0.84511	0.5488	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72805	-0.4182	10	0.10636	T	0.68	.	5.1171	0.14840	0.0:0.2444:0.3969:0.3588	.	42	P54098	DPOG1_HUMAN	Q	42	ENSP00000268124:R42Q;ENSP00000399851:R42Q	ENSP00000268124:R42Q	R	-	2	0	POLG	87677865	0.017000	0.18338	0.003000	0.11579	0.012000	0.07955	-0.201000	0.09464	-0.338000	0.08413	-1.937000	0.00501	CGG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub		0.736	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	C	NM_002693		89876861	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	missense	SNP	0.003	T	T	89876861	C	T	89876861	3	4	97	1	0	0	0	0	1	0	0	0	12224	652	23	2	3682	2	POLG	15	89876861	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4400398	89876861	12654531	440	14164										
C15orf42	90381	genome.wustl.edu	37	chr15	90167236	90167236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccagcccctccaacttcatCgactgcccagcccaggagag	8	18	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90167236C>T	ENST00000268138.7	+	20	3800	c.3695C>T	c.(3694-3696)tCg>tTg	p.S1232L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.S1231L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1232	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCAACTTCATCGACTGCCCAG	0.557																																																	0													87	99	95					15																	90167236		2200	4299	6499	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3695C>T	15.37:g.90167236C>T	ENSP00000268138:p.Ser1232Leu		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.S1232L	ENST00000268138.7	37	c.3695	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134439	0.01742	.	.	ENSG00000140534	ENST00000268138	T	0.08008	3.14	4.29	-0.673	0.11373	.	1.518790	0.04459	N	0.373974	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41610	-0.9499	10	0.27785	T	0.31	2.364	5.4925	0.16785	0.0:0.3673:0.1465:0.4862	.	1232	Q7Z2Z1	TICRR_HUMAN	L	1232	ENSP00000268138:S1232L	ENSP00000268138:S1232L	S	+	2	0	C15orf42	87968240	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.256000	0.08757	-0.041000	0.13558	-0.251000	0.11542	TCG	TICRR	-	NULL		0.557	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90167236	1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.000	T	T	90167236	C	T	90167236	3	4	97	1	0	0	0	0	1	0	0	0	1800	893	31	1	3773	1	C15orf42	15	90167236	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	290375	90167236	12364156	441	14165			3	60		3	3	122	C		2.879446e-06
C15orf42	90381	genome.wustl.edu	37	chr15	90167264	90167264	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagcccaggagagagtgtctCactcccatcagagaccctct	9	15	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90167264C>T	ENST00000268138.7	+	20	3828	c.3723C>T	c.(3721-3723)ctC>ctT	p.L1241L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1240L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1241	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GAGAGTGTCTCACTCCCATCA	0.562																																																	0													73	82	79					15																	90167264		2200	4299	6499	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3723C>T	15.37:g.90167264C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.L1241	ENST00000268138.7	37	c.3723	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.562	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90167264	1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.000	T	T	90167264	C	T	90167264	2	4	97	1	0	0	0	0	0	0	0	1	1800	813	29	1		1	C15orf42	15	90167264	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	28	90167264	12364128	442	14166			3	60		3	3	122	C		2.879446e-06
C15orf42	90381	genome.wustl.edu	37	chr15	90167357	90167357	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caccaacagccccatgtcctCagagctgctcgggcagagga	11	15	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90167357C>T	ENST00000268138.7	+	20	3921	c.3816C>T	c.(3814-3816)ctC>ctT	p.L1272L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1271L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1272	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCCATGTCCTCAGAGCTGCTC	0.522																																																	0													74	78	76					15																	90167357		2200	4299	6499	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3816C>T	15.37:g.90167357C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.L1272	ENST00000268138.7	37	c.3816	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.522	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90167357	1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.000	T	T	90167357	C	T	90167357	2	4	97	1	0	0	0	0	0	0	0	1	1800	813	29	1		1	C15orf42	15	90167357	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	93	90167357	12364035	443	14167			3	60		3	3	122	C		2.879446e-06
SEMA4B	10519	genome.wustl.edu	37	chr15	90771663	90771663	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gccctgtggtgctgccccctGagacccgcccactcaacggc	11	19	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90771663G>C	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Missense_Mutation_p.E768Q|SEMA4B_ENST00000332496.6_Missense_Mutation_p.E768Q|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCTGCCCCCTGAGACCCGCCC	0.647																																																	0													32	35	34					15																	90771663		2009	4164	6173	SO:0001628	intergenic_variant	10509			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771663G>C			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E768Q	ENST00000328649.6	37	c.2302	CCDS10360.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361393	0.82353	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	D;D	0.81499	-1.5;-1.5	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	D	0.89487	0.6729	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89176	0.3540	10	0.48119	T	0.1	.	18.239	0.89960	0.0:0.0:1.0:0.0	.	768;763	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	Q	768	ENSP00000332204:E768Q;ENSP00000394720:E768Q	ENSP00000332204:E768Q	E	+	1	0	SEMA4B	88572667	1.000000	0.71417	0.981000	0.43875	0.782000	0.44232	9.008000	0.93601	2.624000	0.88883	0.561000	0.74099	GAG	SEMA4B	-	NULL		0.647	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1	G			90771663	1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90771663	G	C	90771663	1	2	97	0	1	0	0	0	0	0	0	0	14062	1291	45	1		1	SEMA4B	15	90771663	IGR	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	604306	90771663	11759729	444	14168										
ZNF774	342132	genome.wustl.edu	37	chr15	90903722	90903722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaagaaattcagcgacagctCaacactcatcaaacatcaga	6	11	5	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90903722C>T	ENST00000354377.3	+	4	845	c.659C>T	c.(658-660)tCa>tTa	p.S220L	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGCGACAGCTCAACACTCATC	0.517																																																	0													65	60	62					15																	90903722		2199	4298	6497	SO:0001583	missense	342132			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"Zinc fingers, C2H2-type"	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.659C>T	15.37:g.90903722C>T	ENSP00000346348:p.Ser220Leu		A8K020	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S220L	ENST00000354377.3	37	c.659	CCDS32330.1	15	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122112	0.56613	.	.	ENSG00000196391	ENST00000354377	T	0.01705	4.68	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31290	N	0.007908	T	0.09992	0.0245	M	0.76574	2.34	0.29455	N	0.858165	D	0.71674	0.998	D	0.75484	0.986	T	0.00345	-1.1801	10	0.62326	D	0.03	.	15.5179	0.75840	0.0:1.0:0.0:0.0	.	220	Q6NX45	ZN774_HUMAN	L	220	ENSP00000346348:S220L	ENSP00000346348:S220L	S	+	2	0	ZNF774	88704726	0.000000	0.05858	0.926000	0.36857	0.835000	0.47333	0.282000	0.18829	2.253000	0.74438	0.655000	0.94253	TCA	ZNF774	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF774	HGNC	protein_coding	OTTHUMT00000418048.1	C	NM_001004309		90903722	1	no_errors	ENST00000354377	ensembl	human	known	70_37	missense	SNP	0.296	T	T	90903722	C	T	90903722	3	4	97	1	0	0	0	0	1	0	0	0	18177	838	29	1	669	1	ZNF774	15	90903722	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	132059	90903722	11627670	445	14169										
IQGAP1	8826	genome.wustl.edu	37	chr15	90986629	90986629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttttactcatcctcagacaGaaaactcagagagagaaaga	7	8	3	5			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90986629G>A	ENST00000268182.5	+	9	956	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	278					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCCTCAGACAGAAAACTCAGA	0.393																																																	0													75	73	74					15																	90986629		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.832G>A	15.37:g.90986629G>A	ENSP00000268182:p.Glu278Lys		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E278K	ENST00000268182.5	37	c.832	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281974	0.40394	.	.	ENSG00000140575	ENST00000268182	T	0.40476	1.03	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.62723	1.935	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36648	-0.9739	10	0.07482	T	0.82	-26.0716	18.1082	0.89527	0.0:0.0:1.0:0.0	.	278	P46940	IQGA1_HUMAN	K	278	ENSP00000268182:E278K	ENSP00000268182:E278K	E	+	1	0	IQGAP1	88787633	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.353000	0.97080	2.751000	0.94390	0.650000	0.86243	GAA	IQGAP1	-	NULL		0.393	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90986629	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90986629	G	A	90986629	3	1	97	1	0	0	0	0	1	0	0	0	7834	943	33	1	866	1	IQGAP1	15	90986629	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	82907	90986629	11544763	446	14170										
IQGAP1	8826	genome.wustl.edu	37	chr15	90986659	90986659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agagagaaagagatgtttatGaggagctgctcacgcaagct	13	6	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90986659G>A	ENST00000268182.5	+	9	986	c.862G>A	c.(862-864)Gag>Aag	p.E288K	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	288					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATGTTTATGAGGAGCTGCT	0.358																																																	0													84	81	82					15																	90986659		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.862G>A	15.37:g.90986659G>A	ENSP00000268182:p.Glu288Lys		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E288K	ENST00000268182.5	37	c.862	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.616494	0.96649	.	.	ENSG00000140575	ENST00000268182	T	0.40476	1.03	5.29	5.29	0.74685	.	0.059966	0.64402	D	0.000003	T	0.52435	0.1734	M	0.81239	2.535	0.80722	D	1	P	0.36753	0.568	B	0.39840	0.311	T	0.57347	-0.7827	10	0.51188	T	0.08	-31.1122	18.1082	0.89527	0.0:0.0:1.0:0.0	.	288	P46940	IQGA1_HUMAN	K	288	ENSP00000268182:E288K	ENSP00000268182:E288K	E	+	1	0	IQGAP1	88787663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.458000	0.97634	2.751000	0.94390	0.650000	0.86243	GAG	IQGAP1	-	NULL		0.358	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90986659	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90986659	G	A	90986659	3	1	97	1	0	0	0	0	1	0	0	0	7834	1291	45	1	896	1	IQGAP1	15	90986659	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	30	90986659	11544733	447	14171										
BAIAP3	8938	genome.wustl.edu	37	chr16	1392015	1392015	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acgacgatgtatccctggtaGaagcgtgcaggaagctgaat	13	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:1392015G>T	ENST00000324385.5	+	10	1068	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.E286*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.E269*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.E246*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.E241*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.E269*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.E286*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	304	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATCCCTGGTAGAAGCGTGCAG	0.622																																																	0													82	65	71					16																	1392015		2198	4300	6498	SO:0001587	stop_gained	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.910G>T	16.37:g.1392015G>T	ENSP00000324510:p.Glu304*		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E304*	ENST00000324385.5	37	c.910	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490122	0.84962	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-19.2255	16.3383	0.83074	0.0:0.0:1.0:0.0	.	.	.	.	X	269;286;304;286;269	.	ENSP00000324510:E304X	E	+	1	0	BAIAP3	1332016	1.000000	0.71417	0.974000	0.42286	0.070000	0.16714	5.895000	0.69814	2.462000	0.83206	0.478000	0.44815	GAA	BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.622	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1392015	1	no_errors	ENST00000324385	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	1392015	G	T	1392015	4	4	97	1	0	0	0	0	0	1	0	0	1305	943	33	3	948	3	BAIAP3	16	1392015	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		1392015	88962738	448	14172										
TNFRSF12A	51330	genome.wustl.edu	37	chr16	3071661	3071661	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttctggctttttggtctggaGacgatgccgcaggagagaga	15	7	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:3071661G>A	ENST00000326577.4	+	3	391	c.305G>A	c.(304-306)aGa>aAa	p.R102K	THOC6_ENST00000253952.9_5'Flank|CLDN6_ENST00000396925.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|TNFRSF12A_ENST00000575124.1_Silent_p.E156E|TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.R67K|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.R53K	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	102					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						TTGGTCTGGAGACGATGCCGC	0.622											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	65	70					16																	3071661		2198	4300	6498	SO:0001583	missense	51330			AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"Tumor necrosis factor receptor superfamily", "CD molecules"	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.305G>A	16.37:g.3071661G>A	ENSP00000326737:p.Arg102Lys	608	D3DUA6|Q9HCS0	Missense_Mutation	SNP	pfam_TNFR_12,prints_TNFR_12	p.R102K	ENST00000326577.4	37	c.305	CCDS10489.1	16	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761183	0.69763	.	.	ENSG00000006327	ENST00000326577;ENST00000341627	.	.	.	4.58	4.58	0.56647	.	0.090990	0.48767	D	0.000176	T	0.60881	0.2303	L	0.29908	0.895	0.80722	D	1	D;D	0.61080	0.986;0.989	P;D	0.64321	0.876;0.924	T	0.58059	-0.7703	9	0.33940	T	0.23	-3.5368	12.7699	0.57415	0.0:0.0:1.0:0.0	.	67;102	Q9NP84-2;Q9NP84	.;TNR12_HUMAN	K	102;67	.	ENSP00000326737:R102K	R	+	2	0	TNFRSF12A	3011662	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.793000	0.26944	2.375000	0.81037	0.561000	0.74099	AGA	TNFRSF12A	-	pfam_TNFR_12		0.622	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF12A	HGNC	protein_coding	OTTHUMT00000250990.1	G			3071661	1	no_errors	ENST00000326577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3071661	G	A	3071661	3	1	97	1	0	0	0	0	1	0	0	0	16316	942	33	1	315	1	TNFRSF12A	16	3071661	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1679646	3071661	87283092	449	14173										
NLRC3	197358	genome.wustl.edu	37	chr16	3613849	3613849	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcctaaagtaccatgagtaGagctcgcacagggtcctcgg	11	11	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:3613849G>C	ENST00000301749.7	-	0	1494				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCATGAGTAGAGCTCGCACA	0.672																																																	0													37	41	40					16																	3613849		2000	4154	6154			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613849G>C			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L410	ENST00000301749.7	37	c.1230		16																																																																																			NLRC3	-	NULL		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		G	NM_178844		3613849	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	silent	SNP	0.871	C	C	3613849	G	C	3613849	1	2	97	0	1	0	0	0	0	0	0	0	10492	929	33	1		1	NLRC3	16	3613849	RNA	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	542188	3613849	86740904	450	14174										
A2BP1	54715	genome.wustl.edu	37	chr16	7743345	7743345	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcgtcttcgttgcagcagatGaaatttcttgtaacacctct	7	10	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:7743345G>T	ENST00000550418.1	+	15	1983				RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000355637.4_Nonsense_Mutation_p.E363*|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547372.1_Nonsense_Mutation_p.E385*|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Nonsense_Mutation_p.E359*|RBFOX1_ENST00000535565.2_Nonsense_Mutation_p.E299*|RBFOX1_ENST00000422070.4_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCAGCAGATGAAATTTCTTG	0.398																																					Ovarian(157;934 2567 15163 39509)												0													150	136	141					16																	7743345		2197	4300	6497	SO:0001627	intron_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.996-15713G>T	16.37:g.7743345G>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Nonsense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.E385*	ENST00000550418.1	37	c.1153	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.668283	0.98908	.	.	ENSG00000078328	ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.521	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	385;299;359;363	.	ENSP00000347855:E363X	E	+	1	0	RBFOX1	7683346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.861000	0.98227	0.650000	0.86243	GAA	RBFOX1	-	pirsf_RNA-bd_Fox-1		0.398	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		7743345	1	no_errors	ENST00000547372	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7743345	G	T	7743345	1	4	97	0	1	0	0	0	0	0	0	0	3	1291	45	3		3	A2BP1	16	7743345	Intron	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4129496	7743345	82611408	451	14175										
USP7	7874	genome.wustl.edu	37	chr16	8993571	8993571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtagagatctcggaaatactCctttgcggtgggtaattcac	11	8	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:8993571C>T	ENST00000344836.4	-	22	2551	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	USP7_ENST00000381886.4_Missense_Mutation_p.E769K|USP7_ENST00000535863.1_Missense_Mutation_p.E686K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	785	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGGAAATACTCCTTTGCGGTG	0.438																																																	0													159	140	147					16																	8993571		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2353G>A	16.37:g.8993571C>T	ENSP00000343535:p.Glu785Lys		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.E785K	ENST00000344836.4	37	c.2353	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316005	0.60524	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.07688	3.17;3.18	5.68	5.68	0.88126	.	0.093505	0.64402	D	0.000001	T	0.07503	0.0189	N	0.17082	0.46	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.40098	-0.9581	10	0.27082	T	0.32	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	785;769	Q93009;B7Z815	UBP7_HUMAN;.	K	785;793;686;686	ENSP00000343535:E785K;ENSP00000443646:E686K	ENSP00000343535:E785K	E	-	1	0	USP7	8901072	1.000000	0.71417	0.427000	0.26684	0.850000	0.48378	7.524000	0.81866	2.674000	0.91012	0.555000	0.69702	GAG	USP7	-	NULL		0.438	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	C			8993571	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8993571	C	T	8993571	3	4	97	1	0	0	0	0	1	0	0	0	17119	864	30	1	995	1	USP7	16	8993571	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1250226	8993571	81361182	452	14176										
GPRC5B	51704	genome.wustl.edu	37	chr16	19883813	19883813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcggacagagcagatggtctCgtcctcctggatgatgaagg	15	9	1	4	rs148205185		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:19883813C>T	ENST00000300571.2	-	2	546	c.355G>A	c.(355-357)Gag>Aag	p.E119K	GPRC5B_ENST00000537135.1_Missense_Mutation_p.E145K|GPRC5B_ENST00000569479.1_Missense_Mutation_p.E119K|GPRC5B_ENST00000569847.1_Missense_Mutation_p.E119K|GPRC5B_ENST00000535671.1_Missense_Mutation_p.E119K	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	119					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGATGGTCTCGTCCTCCTGG	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		17742	0		0	False		,,,				2504	0																0								C	LYS/GLU	3,4391	6.2+/-15.9	0,3,2194	30	27	28		355	5.8	1	16	dbSNP_134	28	0,8600		0,0,4300	no	missense	GPRC5B	NM_016235.1	56	0,3,6494	TT,TC,CC		0.0,0.0683,0.0231	probably-damaging	119/404	19883813	3,12991	2197	4300	6497	SO:0001583	missense	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.355G>A	16.37:g.19883813C>T	ENSP00000300571:p.Glu119Lys		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.E145K	ENST00000300571.2	37	c.433	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185984	0.38609	6.83E-4	0.0	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.87966	-2.32;-2.32;-2.32	5.8	5.8	0.92144	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.985;0.995	D	0.90916	0.4779	9	.	.	.	.	19.049	0.93034	0.0:1.0:0.0:0.0	.	145;119	B7Z831;Q9NZH0	.;GPC5B_HUMAN	K	119;119;145	ENSP00000300571:E119K;ENSP00000442858:E119K;ENSP00000441775:E145K	.	E	-	1	0	GPRC5B	19791314	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.685000	0.54678	2.755000	0.94549	0.655000	0.94253	GAG	GPRC5B	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.632	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	C			19883813	-1	no_errors	ENST00000537135	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19883813	C	T	19883813	3	4	97	1	0	0	0	0	1	0	0	0	6745	893	31	1	868	1	GPRC5B	16	19883813	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	10890242	19883813	70470940	453	14177										
LOC81691	112479	genome.wustl.edu	37	chr16	20818300	20818300	+	5'Flank	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agccagagagggaagggaccGagagacaccccaggaaggtc	16	10	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:20818300G>C	ENST00000357967.4	-	0	0				AC004381.6_ENST00000348433.6_Missense_Mutation_p.E9Q|AC004381.6_ENST00000564274.1_Missense_Mutation_p.E9Q|ERI2_ENST00000389345.5_5'Flank|AC004381.6_ENST00000261377.6_Missense_Mutation_p.E9Q|ERI2_ENST00000563117.1_5'Flank|ERI2_ENST00000564349.1_Intron|ERI2_ENST00000300005.3_5'Flank|ERI2_ENST00000569729.1_5'Flank|AC004381.6_ENST00000567297.1_3'UTR|ERI2_ENST00000568251.1_5'Flank	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2								exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GGAAGGGACCGAGAGACACCC	0.622											OREG0023666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	51	57					16																	20818300		2199	4295	6494	SO:0001631	upstream_gene_variant	81691			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557		16.37:g.20818300G>C	Exception_encountered	743	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom	p.E9Q	ENST00000357967.4	37	c.25	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454904	0.26161	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.32272	1.46;1.87	3.98	0.873	0.19118	.	0.768631	0.12047	N	0.504491	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B;B	0.23937	0.094;0.057	B;B	0.23018	0.043;0.019	T	0.25676	-1.0125	10	0.28530	T	0.3	-1.7749	3.2394	0.06776	0.221:0.0:0.5715:0.2075	.	9;9	Q96IC2-2;Q96IC2	.;REXON_HUMAN	Q	9	ENSP00000261378:E9Q;ENSP00000261377:E9Q	ENSP00000261377:E9Q	E	+	1	0	AC004381.6	20725801	0.000000	0.05858	0.004000	0.12327	0.067000	0.16453	0.227000	0.17795	0.218000	0.20820	-0.136000	0.14681	GAG	AC004381.6	-	NULL		0.622	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC81691	Clone_based_vega_gene	protein_coding		G	NM_080663		20818300	1	no_errors	ENST00000261377	ensembl	human	known	70_37	missense	SNP	0.004	C	C	20818300	G	C	20818300	1	2	97	0	1	0	0	0	0	0	0	0	8913	1059	37	1		1	LOC81691	16	20818300	5'Flank	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	934487	20818300	69536453	454	14178										
KIAA0556	23247	genome.wustl.edu	37	chr16	27781220	27781220	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccctggatggcctgtgcgtCtccccgccagagggctttct	12	15	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:27781220C>G	ENST00000261588.4	+	21	4033	c.4014C>G	c.(4012-4014)gtC>gtG	p.V1338V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1338						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCTGTGCGTCTCCCCGCCAG	0.562																																																	0													128	133	131					16																	27781220		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4014C>G	16.37:g.27781220C>G			A7E2C2	Silent	SNP	superfamily_Thaumatin	p.V1338	ENST00000261588.4	37	c.4014	CCDS32415.1	16																																																																																			KIAA0556	-	NULL		0.562	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27781220	1	no_errors	ENST00000261588	ensembl	human	known	70_37	silent	SNP	1.000	G	G	27781220	C	G	27781220	2	3	97	1	0	0	0	0	0	0	0	1	8203	900	32	1		1	KIAA0556	16	27781220	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6962920	27781220	62573533	455	14179										
ASPHD1	253982	genome.wustl.edu	37	chr16	29913117	29913117	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccgggggcctatcgggcactGagggggcttcgaagctttat	16	10	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:29913117G>T	ENST00000308748.5	+	1	1077	c.825G>T	c.(823-825)ctG>ctT	p.L275L	SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	275					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ATCGGGCACTGAGGGGGCTTC	0.687																																																	0													19	19	19					16																	29913117		2160	4233	6393	SO:0001819	synonymous_variant	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.825G>T	16.37:g.29913117G>T			A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.L275	ENST00000308748.5	37	c.825	CCDS10660.1	16																																																																																			ASPHD1	-	pfam_Asp_Arg_b-Hydrxlase		0.687	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	G	NM_181718		29913117	1	no_errors	ENST00000308748	ensembl	human	known	70_37	silent	SNP	0.808	T	T	29913117	G	T	29913117	2	4	97	1	0	0	0	0	0	0	0	1	1055	1277	45	3		3	ASPHD1	16	29913117	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2131897	29913117	60441636	456	14180										
ITGAM	3684	genome.wustl.edu	37	chr16	31273048	31273048	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atgggttcaacttggacactGaaaacgcaatgaccttccaa	8	10	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:31273048G>A	ENST00000287497.8	+	2	139	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ITGAM_ENST00000544665.3_Missense_Mutation_p.E22K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	22					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTGGACACTGAAAACGCAAT	0.537																																																	0													75	68	70					16																	31273048		1989	4169	6158	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.64G>A	16.37:g.31273048G>A	ENSP00000287497:p.Glu22Lys		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E22K	ENST00000287497.8	37	c.64	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632428	0.29068	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.72282	-0.64;-0.64	5.13	3.12	0.35913	.	.	.	.	.	T	0.62780	0.2456	L	0.55017	1.72	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.20384	0.029;0.029	T	0.51395	-0.8711	9	0.32370	T	0.25	.	7.5181	0.27612	0.206:0.0:0.794:0.0	.	22;22	Q4VAK1;P11215	.;ITAM_HUMAN	K	22	ENSP00000441691:E22K;ENSP00000287497:E22K	ENSP00000287497:E22K	E	+	1	0	ITGAM	31180549	0.455000	0.25736	0.007000	0.13788	0.450000	0.32258	1.237000	0.32695	0.529000	0.28599	0.650000	0.86243	GAA	ITGAM	-	NULL		0.537	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	G	NM_000632		31273048	1	no_errors	ENST00000544665	ensembl	human	known	70_37	missense	SNP	0.050	A	A	31273048	G	A	31273048	3	1	97	1	0	0	0	0	1	0	0	0	7907	1291	45	1	70	1	ITGAM	16	31273048	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1359931	31273048	59081705	457	14181										
TGFB1I1	7041	genome.wustl.edu	37	chr16	31488810	31488810	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaccacttcacatgcaccttCtgcctgcgcccgctcaccaa	6	19	3	0	rs141725751		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:31488810C>T	ENST00000394863.3	+	11	1429	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	TGFB1I1_ENST00000567607.1_Silent_p.F416F|TGFB1I1_ENST00000394858.2_Silent_p.F416F|TGFB1I1_ENST00000361773.3_Silent_p.F416F	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	433	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CATGCACCTTCTGCCTGCGCC	0.706																																																	0													21	21	21					16																	31488810		2193	4299	6492	SO:0001819	synonymous_variant	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1299C>T	16.37:g.31488810C>T			B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.F433	ENST00000394863.3	37	c.1299	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.706	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31488810	1	no_errors	ENST00000394863	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31488810	C	T	31488810	2	4	97	1	0	0	0	0	0	0	0	1	15847	912	32	1		1	TGFB1I1	16	31488810	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	215762	31488810	58865943	458	14182										
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53686744	53686744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccagatgcctgtaaaacttCagaagaaaaggttactttgt	8	7	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:53686744C>G	ENST00000379925.3	-	15	1905	c.1855G>C	c.(1855-1857)Gaa>Caa	p.E619Q	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E619Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E619Q|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E619Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	619	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGTAAAACTTCAGAAGAAAAG	0.398																																																	0													69	69	69					16																	53686744		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1855G>C	16.37:g.53686744C>G	ENSP00000369257:p.Glu619Gln		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E619Q	ENST00000379925.3	37	c.1855	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530058	0.45073	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.88431	-2.38;-2.38	5.45	5.45	0.79879	C2 calcium-dependent membrane targeting (1);	0.177737	0.47093	D	0.000246	D	0.85287	0.5662	L	0.48362	1.52	0.80722	D	1	B;B;B;B	0.29716	0.062;0.161;0.255;0.204	B;B;B;B	0.30105	0.052;0.082;0.082;0.111	D	0.84160	0.0428	10	0.59425	D	0.04	-13.6849	12.2726	0.54714	0.0:0.9218:0.0:0.0782	.	619;619;619;619	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	Q	619	ENSP00000369257:E619Q;ENSP00000262135:E619Q	ENSP00000262135:E619Q	E	-	1	0	RPGRIP1L	52244245	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	3.547000	0.53663	2.542000	0.85734	0.563000	0.77884	GAA	RPGRIP1L	-	pfam_DUF3250,smart_C2_Ca-dep		0.398	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	C	NM_015272		53686744	-1	no_errors	ENST00000379925	ensembl	human	known	70_37	missense	SNP	0.999	G	G	53686744	C	G	53686744	3	3	97	1	0	0	0	0	1	0	0	0	13580	835	29	1	2144	1	RPGRIP1L	16	53686744	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	22197934	53686744	36668009	459	14183										
KATNB1	10300	genome.wustl.edu	37	chr16	57787337	57787337	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagagcgagcgccgcagcccCagcagcgaggatgaccggga	17	13	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:57787337C>G	ENST00000379661.3	+	12	1475	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCCGCAGCCCCAGCAGCGAGG	0.652																																																	0													34	40	38					16																	57787337		2198	4298	6496	SO:0001819	synonymous_variant	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1083C>G	16.37:g.57787337C>G				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P361	ENST00000379661.3	37	c.1083	CCDS10788.1	16																																																																																			KATNB1	-	NULL		0.652	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3	C			57787337	1	no_errors	ENST00000379661	ensembl	human	known	70_37	silent	SNP	1.000	G	G	57787337	C	G	57787337	2	3	97	1	0	0	0	0	0	0	0	1	8007	581	21	4		4	KATNB1	16	57787337	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4100593	57787337	32567416	460	14184										
DYNC1LI2	1783	genome.wustl.edu	37	chr16	66785177	66785177	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccccgccgccggcgctcaccGaagaccaggatgttcttgcc	11	18	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:66785177G>A	ENST00000258198.2	-	2	386	c.180C>T	c.(178-180)ttC>ttT	p.F60F	DYNC1LI2_ENST00000440564.2_Splice_Site_p.F60F|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Splice_Site_p.F60F|DYNC1LI2_ENST00000379482.2_Splice_Site_p.F60F	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	60					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGCGCTCACCGAAGACCAGGA	0.706																																																	0													26	28	27					16																	66785177		2199	4300	6499	SO:0001630	splice_region_variant	1783			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.181+1C>T	16.37:g.66785177G>A			A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	NULL	p.S46L	ENST00000258198.2	37	c.137	CCDS10818.1	16																																																																																			DYNC1LI2	-	NULL		0.706	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	G	NM_006141	Silent	66785177	-1	no_errors	ENST00000568180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66785177	G	A	66785177	5	1	97	1	0	0	0	0	0	0	1	0	4855	1072	37	1	1346	1	DYNC1LI2	16	66785177	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8997840	66785177	23569576	461	14185										
B3GNT9	80262	genome.wustl.edu	37	chr16	67183392	67183392	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaaggtgcggaaggcagggtGaggctcgggcgtgagccgca	20	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:67183392G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.H333Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AAGGCAGGGTGAGGCTCGGGC	0.657																																																	0													21	31	28					16																	67183392		2123	4250	6373	SO:0001628	intergenic_variant	84752			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183392G>A			Q9HA86	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.H333Y	ENST00000219139.3	37	c.997	CCDS10828.1	16	.	.	.	.	.	.	.	.	.	.	g	29.1	4.977154	0.92982	.	.	ENSG00000237172	ENST00000449549	T	0.34472	1.36	5.02	5.02	0.67125	.	.	.	.	.	T	0.71484	0.3345	H	0.95294	3.65	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.80165	-0.1496	9	0.51188	T	0.08	-14.0517	16.9174	0.86155	0.0:0.0:1.0:0.0	.	333	Q6UX72	B3GN9_HUMAN	Y	333	ENSP00000400157:H333Y	ENSP00000400157:H333Y	H	-	1	0	B3GNT9	65740893	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.861000	0.99562	2.325000	0.78763	0.556000	0.70494	CAC	B3GNT9	-	NULL		0.657	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT9	HGNC	protein_coding	OTTHUMT00000268829.2	G	NM_025187		67183392	-1	no_errors	ENST00000449549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67183392	G	A	67183392	1	1	97	0	1	0	0	0	0	0	0	0	1265	1290	45	1		1	B3GNT9	16	67183392	IGR	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	398215	67183392	23171361	462	14186										
SNTB2	6645	genome.wustl.edu	37	chr16	69294158	69294158	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agcatattgcctggctggcaGaacaggtaggctgggaggca	16	8	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:69294158G>A	ENST00000336278.4	+	3	1038	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	334	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CTGGCTGGCAGAACAGGTAGG	0.517																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													95	76	83					16																	69294158		2198	4300	6498	SO:0001583	missense	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1000G>A	16.37:g.69294158G>A	ENSP00000338191:p.Glu334Lys		Q9BY09	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E334K	ENST00000336278.4	37	c.1000	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.091056	0.94149	.	.	ENSG00000168807	ENST00000336278	T	0.57273	0.41	5.12	5.12	0.69794	Pleckstrin homology domain (2);	0.153579	0.56097	N	0.000022	T	0.73329	0.3573	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74788	-0.3546	10	0.51188	T	0.08	-12.3261	18.5196	0.90947	0.0:0.0:1.0:0.0	.	334	Q13425	SNTB2_HUMAN	K	334	ENSP00000338191:E334K	ENSP00000338191:E334K	E	+	1	0	SNTB2	67851659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.525000	0.85131	0.655000	0.94253	GAA	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	G			69294158	1	no_errors	ENST00000336278	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69294158	G	A	69294158	3	1	97	1	0	0	0	0	1	0	0	0	14903	943	33	1	1010	1	SNTB2	16	69294158	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2110766	69294158	21060595	463	14187										
HYDIN	54768	genome.wustl.edu	37	chr16	70917970	70917970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gttgatgacctgctgtcctcCggaaggaatggagccaaacc	12	11	0	2	rs564737189		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:70917970C>T	ENST00000393567.2	-	59	9982	c.9832G>A	c.(9832-9834)Gga>Aga	p.G3278R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3278					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTGTCCTCCGGAAGGAATG	0.587													C|||	1	0.000199681	0	0	5008	,	,		22205	0		0	False		,,,				2504	0.001																0													22	24	23					16																	70917970		2012	4176	6188	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9832G>A	16.37:g.70917970C>T	ENSP00000377197:p.Gly3278Arg		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.G3277R	ENST00000393567.2	37	c.9829	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764129	0.69878	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01963	4.53	5.01	5.01	0.66863	.	0.000000	0.32548	U	0.005945	T	0.13841	0.0335	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01301	-1.1391	10	0.40728	T	0.16	.	17.9159	0.88950	0.0:1.0:0.0:0.0	.	3277	F8WD23	.	R	3278;3277	ENSP00000377197:G3278R	ENSP00000313052:G3277R	G	-	1	0	HYDIN	69475471	1.000000	0.71417	0.795000	0.32087	0.121000	0.20230	5.357000	0.66058	2.325000	0.78763	0.511000	0.50034	GGA	HYDIN	-	NULL		0.587	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70917970	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70917970	C	T	70917970	3	4	97	1	0	0	0	0	1	0	0	0	7487	661	23	2	5645	2	HYDIN	16	70917970	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1623812	70917970	19436783	464	14188										
HYDIN	54768	genome.wustl.edu	37	chr16	71012846	71012846	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcgtcttctggcacttcctCagttattatgtcaaagtgat	7	10	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:71012846C>T	ENST00000393567.2	-	30	4759	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1537					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCACTTCCTCAGTTATTATG	0.468																																																	0													120	108	112					16																	71012846		1961	4152	6113	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4609G>A	16.37:g.71012846C>T	ENSP00000377197:p.Glu1537Lys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.E1536K	ENST00000393567.2	37	c.4606	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045092	0.75846	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00949	5.51	4.82	4.82	0.62117	.	0.647023	0.11835	U	0.524801	T	0.02494	0.0076	L	0.57536	1.79	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	T	0.62637	-0.6812	10	0.08837	T	0.75	.	9.5543	0.39328	0.0:0.9017:0.0:0.0983	.	1536	F8WD23	.	K	1537;1536	ENSP00000377197:E1537K	ENSP00000313052:E1536K	E	-	1	0	HYDIN	69570347	0.993000	0.37304	0.920000	0.36463	0.174000	0.22865	4.090000	0.57693	2.381000	0.81170	0.609000	0.83330	GAG	HYDIN	-	NULL		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71012846	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.700	T	T	71012846	C	T	71012846	3	4	97	1	0	0	0	0	1	0	0	0	7487	835	29	1	10984	1	HYDIN	16	71012846	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	94876	71012846	19341907	465	14189										
HP	3240	genome.wustl.edu	37	chr16	72090431	72090431	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcttctctctctttgcagatGacggctgcccgaagcccccc	9	17	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:72090431G>A	ENST00000355906.5	+	3	149	c.91G>A	c.(91-93)Gac>Aac	p.D31N	HP_ENST00000398131.2_Missense_Mutation_p.D31N|HP_ENST00000570083.1_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000565574.1_Missense_Mutation_p.D31N|HP_ENST00000357763.4_Missense_Mutation_p.D31N|HP_ENST00000569639.1_Intron|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	31	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		Missing (in allele HP*1F and allele HP*1S). {ECO:0000269|PubMed:6330675, ECO:0000269|PubMed:6546723}.		acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTTTGCAGATGACGGCTGCCC	0.512																																																	0													6	5	5					16																	72090431		1706	3860	5566	SO:0001583	missense	3240				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.91G>A	16.37:g.72090431G>A	ENSP00000348170:p.Asp31Asn		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D31N	ENST00000355906.5	37	c.91	CCDS45524.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.18|10.18	1.279866|1.279866	0.23392|0.23392	.|.	.|.	ENSG00000257017|ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000357763|ENST00000405951	D;D|.	0.89485|.	-2.52;-2.39|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Sushi/SCR/CCP (1);|.	.|.	.|.	.|.	.|.	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	P;D|.	0.64830|.	0.905;0.994|.	P;P|.	0.52793|.	0.447;0.709|.	T|T	0.73157|0.73157	-0.4071|-0.4071	9|6	0.02654|0.87932	T|D	1|0	.|.	13.6502|13.6502	0.62306|0.62306	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	31;31|.	Q0VAC5;P00738|.	.;HPT_HUMAN|.	N|I	31;31;66|7	ENSP00000348170:D31N;ENSP00000381199:D31N|.	ENSP00000348170:D31N|ENSP00000386047:M7I	D|M	+|+	1|3	0|0	HP|HP	70647932|70647932	0.987000|0.987000	0.35691|0.35691	0.986000|0.986000	0.45419|0.45419	0.133000|0.133000	0.20885|0.20885	2.174000|2.174000	0.42482|0.42482	2.664000|2.664000	0.90586|0.90586	0.558000|0.558000	0.71614|0.71614	GAC|ATG	HP	-	pfscan_Sushi_SCR_CCP		0.512	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	HGNC	protein_coding	OTTHUMT00000421680.1	G	NM_005143		72090431	1	no_errors	ENST00000355906	ensembl	human	known	70_37	missense	SNP	0.998	A	A	72090431	G	A	72090431	3	1	97	1	0	0	0	0	1	0	0	0	7347	1290	45	1	101	1	HP	16	72090431	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1077585	72090431	18264322	466	14190										
ZNRF1	84937	genome.wustl.edu	37	chr16	75033937	75033937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtacctgggctcccgagcctCgctggcggatgctctacctc	12	16	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:75033937C>T	ENST00000335325.4	+	1	1010	c.368C>T	c.(367-369)tCg>tTg	p.S123L	ZNRF1_ENST00000567962.1_Missense_Mutation_p.S123L|ZNRF1_ENST00000566250.1_Missense_Mutation_p.S123L|WDR59_ENST00000562331.1_5'Flank|ZNRF1_ENST00000320619.6_Missense_Mutation_p.S123L	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	123					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TCCCGAGCCTCGCTGGCGGAT	0.667																																																	0													31	30	31					16																	75033937		2197	4298	6495	SO:0001583	missense	84937			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"RING-type (C3HC4) zinc fingers"	18452	protein-coding gene	gene with protein product		612060	"zinc and ring finger 1"				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.368C>T	16.37:g.75033937C>T	ENSP00000335091:p.Ser123Leu		D3DUJ9|Q9H083	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S123L	ENST00000335325.4	37	c.368	CCDS10912.1	16	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040349	0.55003	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	.	.	.	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	T	0.61123	0.2322	N	0.25647	0.755	0.58432	D	0.999999	D;B;D	0.61697	0.99;0.189;0.983	D;B;P	0.66847	0.947;0.039;0.885	T	0.51942	-0.8641	9	0.11182	T	0.66	-6.1079	17.2525	0.87046	0.0:1.0:0.0:0.0	.	123;123;123	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	L	123	.	ENSP00000323362:S123L	S	+	2	0	ZNRF1	73591438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.490000	0.73645	2.701000	0.92244	0.650000	0.86243	TCG	ZNRF1	-	NULL		0.667	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF1	HGNC	protein_coding	OTTHUMT00000269020.2	C			75033937	1	no_errors	ENST00000320619	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75033937	C	T	75033937	3	4	97	1	0	0	0	0	1	0	0	0	18241	893	31	1	370	1	ZNRF1	16	75033937	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2943506	75033937	15320816	467	14191										
NUDT7	283927	genome.wustl.edu	37	chr16	77756503	77756503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcacgacttggtcttcccgaGgagccagtcaggtaaaggct	12	11	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:77756503G>A	ENST00000268533.5	+	1	93	c.24G>A	c.(22-24)gaG>gaA	p.E8E	NUDT7_ENST00000568787.1_Silent_p.E8E|NUDT7_ENST00000437314.3_Silent_p.E8E|NUDT7_ENST00000564085.1_Silent_p.E8E|NUDT7_ENST00000563839.1_Silent_p.E8E	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	8					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTCTTCCCGAGGAGCCAGTCA	0.657																																																	0													21	25	24					16																	77756503		1873	4092	5965	SO:0001819	synonymous_variant	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.24G>A	16.37:g.77756503G>A			B4DLE5|H3BUB8	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E8	ENST00000268533.5	37	c.24	CCDS42195.1	16																																																																																			NUDT7	-	NULL		0.657	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	G			77756503	1	no_errors	ENST00000268533	ensembl	human	known	70_37	silent	SNP	0.189	A	A	77756503	G	A	77756503	2	1	97	1	0	0	0	0	0	0	0	1	10768	991	35	4		4	NUDT7	16	77756503	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2722566	77756503	12598250	468	14192										
ACSF3	197322	genome.wustl.edu	37	chr16	89212381	89212381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagttccggatatgacatggGgccagcgggtcactgctgtg	16	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:89212381G>A	ENST00000317447.4	+	10	1914	c.1537G>A	c.(1537-1539)Ggc>Agc	p.G513S	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000406948.3_Missense_Mutation_p.G513S|ACSF3_ENST00000378345.4_Missense_Mutation_p.G248S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	513					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TATGACATGGGGCCAGCGGGT	0.592																																																	0													175	162	166					16																	89212381		2198	4300	6498	SO:0001583	missense	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1537G>A	16.37:g.89212381G>A	ENSP00000320646:p.Gly513Ser		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G513S	ENST00000317447.4	37	c.1537	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705067	0.88924	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345	T;T;T	0.66995	-0.24;-0.24;-0.24	4.99	4.0	0.46444	.	0.303410	0.34986	N	0.003538	D	0.84124	0.5403	M	0.90309	3.105	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.87258	0.2277	10	0.87932	D	0	-19.5946	13.971	0.64240	0.0:0.0:0.8467:0.1533	.	513	Q4G176	ACSF3_HUMAN	S	513;513;248	ENSP00000320646:G513S;ENSP00000384627:G513S;ENSP00000367596:G248S	ENSP00000320646:G513S	G	+	1	0	ACSF3	87739882	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	8.124000	0.89588	1.024000	0.39682	0.467000	0.42956	GGC	ACSF3	-	NULL		0.592	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	G	NM_174917		89212381	1	no_errors	ENST00000317447	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89212381	G	A	89212381	3	1	97	1	0	0	0	0	1	0	0	0	176	1232	43	4	1567	4	ACSF3	16	89212381	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	11455878	89212381	1142372	469	14193										
SPIRE2	84501	genome.wustl.edu	37	chr16	89922026	89922026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggtggatggggacatcccgCcccgggtgaagaaggacgct	17	10	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:89922026C>T	ENST00000378247.3	+	6	953	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	SPIRE2_ENST00000393062.2_Missense_Mutation_p.P304S	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	304					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGACATCCCGCCCCGGGTGAA	0.662																																																	0													72	53	59					16																	89922026		2197	4299	6496	SO:0001583	missense	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.910C>T	16.37:g.89922026C>T	ENSP00000367494:p.Pro304Ser		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.P304S	ENST00000378247.3	37	c.910	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678689	0.68042	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.50277	0.76;0.75	5.39	4.44	0.53790	.	0.096798	0.64402	N	0.000001	T	0.67552	0.2905	M	0.79475	2.455	0.80722	D	1	D;B;D;B	0.89917	1.0;0.103;1.0;0.176	D;B;D;B	0.87578	0.998;0.031;0.998;0.046	T	0.71122	-0.4684	10	0.62326	D	0.03	-40.8455	12.0945	0.53747	0.0:0.9154:0.0:0.0846	.	171;304;256;304	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	S	304	ENSP00000367494:P304S;ENSP00000376782:P304S	ENSP00000367494:P304S	P	+	1	0	SPIRE2	88449527	0.973000	0.33851	0.387000	0.26183	0.806000	0.45545	2.766000	0.47629	1.393000	0.46605	0.561000	0.74099	CCC	SPIRE2	-	NULL		0.662	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462		89922026	1	no_errors	ENST00000378247	ensembl	human	known	70_37	missense	SNP	0.975	T	T	89922026	C	T	89922026	3	4	97	1	0	0	0	0	1	0	0	0	15102	739	26	4	932	4	SPIRE2	16	89922026	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	709645	89922026	432727	470	14194										
RPH3AL	9501	genome.wustl.edu	37	chr17	63648	63648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggcaccagacacctcagcCcaggcagctggaggggcctg	14	15	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:63648C>T	ENST00000331302.7	-	10	1250	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Missense_Mutation_p.G286S|RPH3AL_ENST00000323434.8_Missense_Mutation_p.G286S	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	315					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		ACACCTCAGCCCAGGCAGCTG	0.627																																																	0													21	26	24					17																	63648		2203	4299	6502	SO:0001583	missense	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.943G>A	17.37:g.63648C>T	ENSP00000328977:p.Gly315Ser		D3DTG7|Q9BSB3	Missense_Mutation	SNP	pfam_Rabphilin3A_effector_Zn-bd,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.G315S	ENST00000331302.7	37	c.943	CCDS10994.1	17	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853594	0.51270	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	.	.	.	3.79	0.446	0.16602	.	0.171732	0.24156	U	0.041035	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.10450	0.005;0.002	T	0.18304	-1.0341	9	0.87932	D	0	.	7.3601	0.26742	0.0:0.553:0.3494:0.0976	.	286;315	Q9UNE2-2;Q9UNE2	.;RPH3L_HUMAN	S	315;286;286	.	ENSP00000319210:G315S	G	-	1	0	RPH3AL	63648	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.319000	0.08039	0.035000	0.15519	-0.321000	0.08615	GGC	RPH3AL	-	NULL		0.627	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPH3AL	HGNC	protein_coding	OTTHUMT00000206597.2	C	NM_006987		63648	-1	no_errors	ENST00000331302	ensembl	human	known	70_37	missense	SNP	0.006	T	T	63648	C	T	63648	3	4	97	1	0	0	0	0	1	0	0	0	13582	623	22	4	8	4	RPH3AL	17	63648	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		63648	81131562	471	14195										
ZZEF1	23140	genome.wustl.edu	37	chr17	3920807	3920807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcagggatgcaagcacgtggCgggcgtacaggacagctgtg	18	9	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:3920807C>T	ENST00000381638.2	-	48	7983	c.7859G>A	c.(7858-7860)cGc>cAc	p.R2620H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2620							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAGCACGTGGCGGGCGTACAG	0.617																																																	0													60	51	54					17																	3920807		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7859G>A	17.37:g.3920807C>T	ENSP00000371051:p.Arg2620His		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.R2620H	ENST00000381638.2	37	c.7859	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.355284	0.95854	.	.	ENSG00000074755	ENST00000381638	T	0.50548	0.74	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64127	-0.6480	10	0.87932	D	0	-14.8626	19.4618	0.94920	0.0:1.0:0.0:0.0	.	2620	O43149	ZZEF1_HUMAN	H	2620	ENSP00000371051:R2620H	ENSP00000371051:R2620H	R	-	2	0	ZZEF1	3867556	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.438000	0.80431	2.598000	0.87819	0.650000	0.86243	CGC	ZZEF1	-	NULL		0.617	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	C	NM_015113		3920807	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3920807	C	T	3920807	3	4	97	1	0	0	0	0	1	0	0	0	18285	768	27	2	1058	2	ZZEF1	17	3920807	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3857159	3920807	77274403	472	14196										
SPNS2	124976	genome.wustl.edu	37	chr17	4437146	4437146	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccatcactgcagacatcctcAtggtgagccaggcaggccga	11	14	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:4437146A>T	ENST00000329078.3	+	9	1552	c.1342A>T	c.(1342-1344)Atg>Ttg	p.M448L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	448					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						AGACATCCTCATGGTGAGCCA	0.632																																																	0													58	51	53					17																	4437146		1568	3582	5150	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1342A>T	17.37:g.4437146A>T	ENSP00000333292:p.Met448Leu		B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M448L	ENST00000329078.3	37	c.1342	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	a	6.484	0.457482	0.12342	.	.	ENSG00000183018	ENST00000329078	T	0.58210	0.35	4.49	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.183157	0.56097	D	0.000024	T	0.19366	0.0465	N	0.00894	-1.105	0.39782	D	0.972319	B	0.13145	0.007	B	0.12156	0.007	T	0.28522	-1.0041	10	0.02654	T	1	.	11.4551	0.50176	1.0:0.0:0.0:0.0	.	448	Q8IVW8	SPNS2_HUMAN	L	448	ENSP00000333292:M448L	ENSP00000333292:M448L	M	+	1	0	SPNS2	4383895	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.912000	0.63335	1.784000	0.52394	0.398000	0.26397	ATG	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	A			4437146	1	no_errors	ENST00000329078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4437146	A	T	4437146	3	4	97	1	0	0	0	0	1	0	0	0	15105	217	8	5	1376	5	SPNS2	17	4437146	Missense_Mutation	SNP	A	TCGA-EK-A2PG-01A-11D-A18J-09	516339	4437146	76758064	473	14197										
CHRNE	1145	genome.wustl.edu	37	chr17	4805354	4805354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtagacgagcacgttggcgtCgtaggccactccgaactggc	14	12	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:4805354C>T	ENST00000293780.4	-	5	383	c.373G>A	c.(373-375)Gac>Aac	p.D125N	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACGTTGGCGTCGTAGGCCACT	0.622																																																	0													52	45	47					17																	4805354		2203	4300	6503	SO:0001583	missense	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.373G>A	17.37:g.4805354C>T	ENSP00000293780:p.Asp125Asn		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.D125N	ENST00000293780.4	37	c.373	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	2.624	-0.287918	0.05605	.	.	ENSG00000108556	ENST00000293780	T	0.77098	-1.07	4.68	1.37	0.22104	Neurotransmitter-gated ion-channel ligand-binding (3);	0.441437	0.26397	N	0.024603	T	0.54013	0.1832	N	0.13098	0.295	0.80722	D	1	P	0.42961	0.795	B	0.34536	0.185	T	0.50591	-0.8810	10	0.56958	D	0.05	.	7.2385	0.26084	0.3413:0.3652:0.2934:0.0	.	125	Q04844	ACHE_HUMAN	N	125	ENSP00000293780:D125N	ENSP00000293780:D125N	D	-	1	0	CHRNE	4746133	1.000000	0.71417	0.749000	0.31150	0.121000	0.20230	2.695000	0.47043	0.148000	0.19059	-0.397000	0.06425	GAC	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.622	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	C			4805354	-1	no_errors	ENST00000293780	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4805354	C	T	4805354	3	4	97	1	0	0	0	0	1	0	0	0	3400	884	31	1	1140	1	CHRNE	17	4805354	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	368208	4805354	76389856	474	14198										
DVL2	1856	genome.wustl.edu	37	chr17	7132958	7132958	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgccgccggtggcgcttaagGaggcgggaggcactgctctg	18	12	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7132958G>A	ENST00000005340.5	-	6	978	c.696C>T	c.(694-696)ctC>ctT	p.L232L	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.L226L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	232					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGCGCTTAAGGAGGCGGGAGG	0.632																																																	0													55	63	60					17																	7132958		2203	4300	6503	SO:0001819	synonymous_variant	1856			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.696C>T	17.37:g.7132958G>A			D3DTN3|Q53XM0	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.L232	ENST00000005340.5	37	c.696	CCDS11091.1	17																																																																																			DVL2	-	pfam_Dishevelled_protein_dom		0.632	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	G	NM_004422		7132958	-1	no_errors	ENST00000005340	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7132958	G	A	7132958	2	1	97	1	0	0	0	0	0	0	0	1	4846	1161	41	1		1	DVL2	17	7132958	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2327604	7132958	74062252	475	14199										
DVL2	1856	genome.wustl.edu	37	chr17	7133189	7133189	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctctccagctcgctggtcatGagggtagaggagctctcgta	13	11	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7133189G>T	ENST00000005340.5	-	5	876	c.594C>A	c.(592-594)ctC>ctA	p.L198L	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.L192L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	198					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGCTGGTCATGAGGGTAGAGG	0.647																																																	0													70	73	72					17																	7133189		2203	4300	6503	SO:0001819	synonymous_variant	1856			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.594C>A	17.37:g.7133189G>T			D3DTN3|Q53XM0	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.L198	ENST00000005340.5	37	c.594	CCDS11091.1	17																																																																																			DVL2	-	pfam_Dishevelled_protein_dom		0.647	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	G	NM_004422		7133189	-1	no_errors	ENST00000005340	ensembl	human	known	70_37	silent	SNP	0.946	T	T	7133189	G	T	7133189	2	4	97	1	0	0	0	0	0	0	0	1	4846	1277	45	3		3	DVL2	17	7133189	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	231	7133189	74062021	476	14200										
DULLARD	23399	genome.wustl.edu	37	chr17	7147886	7147887	+	Frame_Shift_Ins	INS	-	-	TGGG													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tacctgagggcatccagcatINStgggagcaggttgagaaggg					rs151138336		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7147886_7147887insTGGG	ENST00000573600.1	-	8	1078_1079	c.657_658insCCCA	c.(655-660)ccaatgfs	p.M220fs	GABARAP_ENST00000573928.1_5'Flank|GABARAP_ENST00000571129.1_5'Flank|CTDNEP1_ENST00000318988.6_Frame_Shift_Ins_p.M220fs|CTD-2545G14.7_ENST00000570760.2_Frame_Shift_Ins_p.Q23fs|CTDNEP1_ENST00000572043.1_Frame_Shift_Ins_p.M87fs|CTDNEP1_ENST00000574322.1_Frame_Shift_Ins_p.M220fs|GABARAP_ENST00000577035.1_5'Flank|GABARAP_ENST00000571253.1_5'Flank|GABARAP_ENST00000302386.5_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	220	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCATCCAGCATTGGGAGCAGGT	0.515																																																	0																																										SO:0001589	frameshift_variant	23399			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.654_657dupCCCA	17.37:g.7147887_7147890dupTGGG	ENSP00000461749:p.Met220fs		D3DTN7|Q96GQ9	Frame_Shift_Ins	INS	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.M219fs	ENST00000573600.1	37	c.658_657	CCDS11093.1	17																																																																																			CTDNEP1	-	pfam_NIF,superfamily_HAD-like_dom,pfscan_NIF,tigrfam_Dullard_phosphatase		0.515	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CTDNEP1	HGNC	protein_coding	OTTHUMT00000440215.1	-	NM_015343		7147887	-1	no_errors	ENST00000318988	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.827	TGGG	TGGG	7147887	-	TGGG	7147886	7	5	97	1	0	1	1	0	0	0	0	0	4809	1493	52	0	84	0	DULLARD	17	7147886	Frame_Shift_Ins	INS	-	TCGA-EK-A2PG-01A-11D-A18J-09	14697	7147886	74047324	477	14201										
PIK3R6	146850	genome.wustl.edu	37	chr17	8736353	8736353	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atagtgctccagggtgcggcGagggctggcctgttggggag	20	8	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:8736353G>C	ENST00000311434.9	-	9	894	c.655C>G	c.(655-657)Cgc>Ggc	p.R219G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	219					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										AGGGTGCGGCGAGGGCTGGCC	0.701																																																	0													12	16	14					17																	8736353		1971	4126	6097	SO:0001583	missense	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.655C>G	17.37:g.8736353G>C	ENSP00000475670:p.Arg219Gly		Q658R3	RNA	SNP	-	NULL	ENST00000311434.9	37	NULL		17																																																																																			PIK3R6	-	-		0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		G	NM_001010855		8736353	-1	no_errors	ENST00000311434	ensembl	human	known	70_37	rna	SNP	0.786	C	C	8736353	G	C	8736353	3	2	97	1	0	0	0	0	1	0	0	0	11947	1058	37	1	1656	1	PIK3R6	17	8736353	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1588467	8736353	72458857	478	14202										
DNAH9	1770	genome.wustl.edu	37	chr17	11666898	11666898	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tattttgtgtttgctgccatCtgggctttcggcggagcaat	12	8	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:11666898C>T	ENST00000262442.4	+	36	7205	c.7137C>T	c.(7135-7137)atC>atT	p.I2379I	DNAH9_ENST00000454412.2_Silent_p.I2379I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2379					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGCTGCCATCTGGGCTTTCG	0.473																																																	0													80	73	76					17																	11666898		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7137C>T	17.37:g.11666898C>T			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I2379	ENST00000262442.4	37	c.7137	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11666898	1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11666898	C	T	11666898	2	4	97	1	0	0	0	0	0	0	0	1	4618	903	32	1		1	DNAH9	17	11666898	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2930545	11666898	69528312	479	14203										
C17orf76	388341	genome.wustl.edu	37	chr17	16347309	16347309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtccgtgaggcctgtgaagcCcagctccacgctgtctacct	11	15	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:16347309C>A	ENST00000409083.3	-	3	674	c.512G>T	c.(511-513)gGg>gTg	p.G171V	C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.G210C|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						CCTGTGAAGCCCAGCTCCACG	0.642																																																	0													70	57	62					17																	16347309		2203	4300	6503	SO:0001583	missense	388341																														ENST00000409083.3:c.512G>T	17.37:g.16347309C>A	ENSP00000386504:p.Gly171Val			Missense_Mutation	SNP	NULL	p.G210C	ENST00000409083.3	37	c.628	CCDS11178.2	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.916430|2.916430	0.52546|0.52546	.|.	.|.	ENSG00000181350|ENSG00000181350	ENST00000470794|ENST00000409083	T|.	0.53857|.	0.6|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	1.562300|1.562300	0.03515|0.03515	N|N	0.220087|0.220087	T|T	0.72890|0.72890	0.3517|0.3517	.|.	.|.	.|.	0.49915|0.49915	D|D	0.999839|0.999839	B|D	0.24186|0.55800	0.099|0.973	B|P	0.26202|0.57009	0.067|0.811	T|T	0.60156|0.60156	-0.7318|-0.7318	9|8	0.41790|0.87932	T|D	0.15|0	.|.	11.9393|11.9393	0.52892|0.52892	0.1736:0.8264:0.0:0.0|0.1736:0.8264:0.0:0.0	.|.	210|171	Q8NAA5|Q8NAA5-2	CQ076_HUMAN|.	C|V	210|171	ENSP00000419502:G210C|.	ENSP00000419502:G210C|ENSP00000386504:G171V	G|G	-|-	1|2	0|0	C17orf76|C17orf76	16288034|16288034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.480000|3.480000	0.53172|0.53172	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	GGC|GGG	FAM211A	-	NULL		0.642	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	FAM211A	HGNC	protein_coding	OTTHUMT00000130461.2	C			16347309	-1	no_errors	ENST00000470794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16347309	C	A	16347309	3	1	97	1	0	0	0	0	1	0	0	0	1885	623	22	4	410	4	C17orf76	17	16347309	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4680411	16347309	64847901	480	14204										
MAPK7	5598	genome.wustl.edu	37	chr17	19284341	19284341	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tatgtacaccagctacagctCatcatgatggtgctgggtac	10	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:19284341C>G	ENST00000308406.5	+	4	1205	c.819C>G	c.(817-819)ctC>ctG	p.L273L	MAPK7_ENST00000299612.7_Silent_p.L134L|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Silent_p.L273L|B9D1_ENST00000477478.2_5'Flank|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395602.4_Silent_p.L273L|B9D1_ENST00000575403.1_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	273	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCTACAGCTCATCATGATGG	0.592																																																	0													39	40	40					17																	19284341		2203	4300	6503	SO:0001819	synonymous_variant	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.819C>G	17.37:g.19284341C>G			Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L273	ENST00000308406.5	37	c.819	CCDS11206.1	17																																																																																			MAPK7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19284341	1	no_errors	ENST00000308406	ensembl	human	known	70_37	silent	SNP	0.999	G	G	19284341	C	G	19284341	2	3	97	1	0	0	0	0	0	0	0	1	9305	813	29	1		1	MAPK7	17	19284341	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2937032	19284341	61910869	481	14205										
MYO18A	399687	genome.wustl.edu	37	chr17	27425864	27425864	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtctttgttccggatctgctCctctgacagctgtacttcga	9	12	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:27425864C>A	ENST00000527372.1	-	23	3940	c.3760G>T	c.(3760-3762)Gag>Tag	p.E1254*	MYO18A_ENST00000354329.4_Nonsense_Mutation_p.E1254*|MYO18A_ENST00000533112.1_Nonsense_Mutation_p.E1254*|MYO18A_ENST00000531253.1_Nonsense_Mutation_p.E1254*	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1254					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CGGATCTGCTCCTCTGACAGC	0.527																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													134	133	133					17																	27425864		1947	4148	6095	SO:0001587	stop_gained	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3760G>T	17.37:g.27425864C>A	ENSP00000437073:p.Glu1254*		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.E1254*	ENST00000527372.1	37	c.3760	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	44	11.184498	0.99528	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	X	1254;1254;1254;1254;1254;150;150;866	.	ENSP00000346291:E1254X	E	-	1	0	MYO18A	24449990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.411000	0.80078	2.837000	0.97791	0.655000	0.94253	GAG	MYO18A	-	pfam_Myosin_tail		0.527	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	C	NM_078471		27425864	-1	no_errors	ENST00000354329	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27425864	C	A	27425864	4	1	97	1	0	0	0	0	0	1	0	0	10088	864	30	3	2484	3	MYO18A	17	27425864	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	8141523	27425864	53769346	482	14206										
C17orf75	64149	genome.wustl.edu	37	chr17	30669122	30669122	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctgctctctagttccttttCatctccatccatcgactcct	4	16	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:30669122C>G	ENST00000577809.1	-	1	86	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q	C17orf75_ENST00000225805.4_Missense_Mutation_p.E13Q|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	13										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTTCCTTTTCATCTCCATCC	0.627																																																	0													30	36	34					17																	30669122		1999	4165	6164	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.37G>C	17.37:g.30669122C>G	ENSP00000464275:p.Glu13Gln		Q7Z2H4	Missense_Mutation	SNP	NULL	p.E13Q	ENST00000577809.1	37	c.37	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676545	0.29783	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.99	4.99	0.66335	.	0.222293	0.45361	D	0.000361	T	0.54727	0.1876	L	0.43152	1.355	0.49389	D	0.999782	B	0.34329	0.449	B	0.37888	0.26	T	0.59852	-0.7376	9	0.66056	D	0.02	-3.7539	16.2239	0.82280	0.0:1.0:0.0:0.0	.	13	Q9HAS0	NJMU_HUMAN	Q	13	.	ENSP00000225805:E13Q	E	-	1	0	C17orf75	27693235	0.997000	0.39634	0.728000	0.30774	0.131000	0.20780	4.765000	0.62271	2.584000	0.87258	0.455000	0.32223	GAA	C17orf75	-	NULL		0.627	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	C	NM_022344		30669122	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	0.964	G	G	30669122	C	G	30669122	3	3	97	1	0	0	0	0	1	0	0	0	1884	835	29	1	1193	1	C17orf75	17	30669122	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3243258	30669122	50526088	483	14207										
TBC1D3B	414059	genome.wustl.edu	37	chr17	34499303	34499303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggatgtgctcagatgacctCttgcccttctccttcatgat	8	12	4	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:34499303C>G	ENST00000454519.3	-	7	557	c.408G>C	c.(406-408)aaG>aaC	p.K136N	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.K136N	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGATGACCTCTTGCCCTTCT	0.552																																																	0													1	1	1					17																	34499303		722	1342	2064	SO:0001583	missense	414059			AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"TBC1 domain family, member 3I"	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.408G>C	17.37:g.34499303C>G	ENSP00000390852:p.Lys136Asn		A8K892	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.K136N	ENST00000454519.3	37	c.408	CCDS42300.1	17	.	.	.	.	.	.	.	.	.	.	.	9.621	1.133879	0.21123	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.33654	1.4;1.4	.	.	.	Rab-GAP/TBC domain (4);	0.553880	0.16679	U	0.204013	T	0.44973	0.1319	L	0.58101	1.795	0.19575	N	0.999969	P	0.49447	0.924	P	0.58266	0.836	T	0.24621	-1.0155	8	0.51188	T	0.08	.	.	.	.	.	136	A6NDS4	TBC3B_HUMAN	N	136	ENSP00000381781:K136N;ENSP00000390852:K136N	ENSP00000340678:K136N	K	-	3	2	TBC1D3B	31523416	0.023000	0.18921	0.098000	0.21074	0.098000	0.18820	-0.054000	0.11826	0.107000	0.17824	0.109000	0.15622	AAG	TBC1D3B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.552	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D3B	HGNC	protein_coding	OTTHUMT00000256087.3	C	NM_001001417		34499303	-1	no_errors	ENST00000398801	ensembl	human	known	70_37	missense	SNP	0.430	G	G	34499303	C	G	34499303	3	3	97	1	0	0	0	0	1	0	0	0	15650	912	32	1	1273	1	TBC1D3B	17	34499303	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3830181	34499303	46695907	484	14208										
TBC1D3B	414059	genome.wustl.edu	37	chr17	34499728	34499728	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacatcgggccccggatgttCatgggcattcccttgtacgc	11	14	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:34499728C>A	ENST00000454519.3	-	6	461	c.312G>T	c.(310-312)atG>atT	p.M104I	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.M104I	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	104	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGGATGTTCATGGGCATTC	0.552																																																	0													1	1	1					17																	34499728		16	36	52	SO:0001583	missense	414059			AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"TBC1 domain family, member 3I"	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.312G>T	17.37:g.34499728C>A	ENSP00000390852:p.Met104Ile		A8K892	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M104I	ENST00000454519.3	37	c.312	CCDS42300.1	17	.	.	.	.	.	.	.	.	.	.	.	5.613	0.297890	0.10622	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.32023	1.47;1.47	.	.	.	Rab-GAP/TBC domain (3);	0.728603	0.12386	U	0.473468	T	0.31231	0.0790	M	0.70275	2.135	0.24415	N	0.994646	B	0.27013	0.166	B	0.33121	0.158	T	0.32771	-0.9894	8	0.37606	T	0.19	.	.	.	.	.	104	A6NDS4	TBC3B_HUMAN	I	104	ENSP00000381781:M104I;ENSP00000390852:M104I	ENSP00000340678:M104I	M	-	3	0	TBC1D3B	31523841	1.000000	0.71417	0.052000	0.19188	0.052000	0.14988	0.309000	0.19332	0.107000	0.17824	0.109000	0.15622	ATG	TBC1D3B	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.552	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D3B	HGNC	protein_coding	OTTHUMT00000256087.3	C	NM_001001417		34499728	-1	no_errors	ENST00000398801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34499728	C	A	34499728	3	1	97	1	0	0	0	0	1	0	0	0	15650	826	29	3	1373	3	TBC1D3B	17	34499728	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	425	34499728	46695482	485	14209										
ACACA	31	genome.wustl.edu	37	chr17	35605034	35605034	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtacatctacttctacacatGagccattcatgatcaccaca	4	13	4	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:35605034G>A	ENST00000394406.2	-	18	2289	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	ACACA_ENST00000335166.5_Missense_Mutation_p.S622L|ACACA_ENST00000353139.5_Missense_Mutation_p.S737L|ACACA_ENST00000360679.3_Missense_Mutation_p.S642L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	700					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTACACATGAGCCATTCAT	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													167	128	141					17																	35605034		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2099C>T	17.37:g.35605034G>A	ENSP00000377928:p.Ser700Leu		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S737L	ENST00000394406.2	37	c.2210	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.168712	0.94768	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.95690	-3.78;-3.77;-3.78;-3.77	5.03	5.03	0.67393	.	0.058209	0.64402	D	0.000001	D	0.96679	0.8916	M	0.87900	2.915	0.80722	D	1	P;P;P	0.45126	0.624;0.608;0.851	P;B;P	0.47299	0.543;0.273;0.543	D	0.97483	1.0048	10	0.72032	D	0.01	-7.9886	17.5306	0.87813	0.0:0.0:1.0:0.0	.	737;700;642	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	L	737;642;700;724;622	ENSP00000344789:S737L;ENSP00000353898:S642L;ENSP00000377928:S700L;ENSP00000335323:S622L	ENSP00000335323:S622L	S	-	2	0	ACACA	32679147	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.601000	0.98297	2.620000	0.88729	0.655000	0.94253	TCA	ACACA	-	NULL		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35605034	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35605034	G	A	35605034	3	1	97	1	0	0	0	0	1	0	0	0	106	1294	45	1	5097	1	ACACA	17	35605034	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1105306	35605034	45590176	486	14210										
KRTAP4-12	83755	genome.wustl.edu	37	chr17	39280025	39280025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggacacacagcagctggggCggcagcaagtggtcctgcag	16	11	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:39280025C>T	ENST00000394014.1	-	1	394	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	117	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagctggggcggcagcaAGT	0.677																																																	0													31	39	36					17																	39280025		2181	4265	6446	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.350G>A	17.37:g.39280025C>T	ENSP00000377582:p.Arg117His		A3KMC5|Q495I0	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R117H	ENST00000394014.1	37	c.350	CCDS32649.1	17	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369497	0.42003	.	.	ENSG00000213416	ENST00000394014	T	0.01495	4.83	4.31	2.18	0.27775	.	2.803460	0.06150	N	0.673914	T	0.08802	0.0218	M	0.92169	3.28	0.09310	N	1	D	0.54207	0.965	P	0.52710	0.707	T	0.19679	-1.0298	10	0.62326	D	0.03	.	3.4585	0.07524	0.1953:0.5671:0.0:0.2376	.	117	Q9BQ66	KR412_HUMAN	H	117	ENSP00000377582:R117H	ENSP00000377582:R117H	R	-	2	0	KRTAP4-12	36533551	0.000000	0.05858	0.001000	0.08648	0.284000	0.27059	-0.603000	0.05674	0.323000	0.23307	0.484000	0.47621	CGC	KRTAP4-12	-	pfam_Keratin-assoc		0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-12	HGNC	protein_coding	OTTHUMT00000257777.1	C			39280025	-1	no_errors	ENST00000394014	ensembl	human	known	70_37	missense	SNP	0.002	T	T	39280025	C	T	39280025	3	4	97	1	0	0	0	0	1	0	0	0	8570	768	27	2	259	2	KRTAP4-12	17	39280025	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3674991	39280025	41915185	487	14211										
AOC3	8639	genome.wustl.edu	37	chr17	41004444	41004444	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaggagaaagactagtttatGagataagcctccaagaggcc	11	7	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41004444G>C	ENST00000308423.2	+	1	1244	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	362					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACTAGTTTATGAGATAAGCCT	0.527																																					NSCLC(3;192 220 10664 11501 16477)												0													76	72	74					17																	41004444		2203	4300	6503	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1084G>C	17.37:g.41004444G>C	ENSP00000312326:p.Glu362Gln		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E362Q	ENST00000308423.2	37	c.1084	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937001	0.52972	.	.	ENSG00000131471	ENST00000308423	T	0.04603	3.59	4.4	4.4	0.53042	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14448	-1.0472	10	0.62326	D	0.03	.	17.5409	0.87848	0.0:0.0:1.0:0.0	.	362	Q16853	AOC3_HUMAN	Q	362	ENSP00000312326:E362Q	ENSP00000312326:E362Q	E	+	1	0	AOC3	38257970	1.000000	0.71417	0.773000	0.31616	0.130000	0.20726	9.556000	0.98127	2.474000	0.83562	0.591000	0.81541	GAG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.527	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	G	NM_003734		41004444	1	no_errors	ENST00000308423	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41004444	G	C	41004444	3	2	97	1	0	0	0	0	1	0	0	0	728	1291	45	1	1086	1	AOC3	17	41004444	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1724419	41004444	40190766	488	14212										
G6PC	2538	genome.wustl.edu	37	chr17	41062954	41062954	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	attgctgttgcagaaactttCagccacatccacagcatcta	6	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41062954C>T	ENST00000253801.2	+	5	664	c.585C>T	c.(583-585)ttC>ttT	p.F195F	G6PC_ENST00000592383.1_Nonsense_Mutation_p.Q170*|G6PC_ENST00000585489.1_Nonsense_Mutation_p.Q157*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	195					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAGAAACTTTCAGCCACATCC	0.463																																																	0													97	77	84					17																	41062954		2203	4300	6503	SO:0001819	synonymous_variant	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.585C>T	17.37:g.41062954C>T			A1L4C0|B4E1C3|K7EL82	Nonsense_Mutation	SNP	NULL	p.Q170*	ENST00000253801.2	37	c.508	CCDS11446.1	17																																																																																			G6PC	-	NULL		0.463	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	C	NM_000151		41062954	1	no_errors	ENST00000592383	ensembl	human	putative	70_37	nonsense	SNP	0.999	T	T	41062954	C	T	41062954	2	4	97	1	0	0	0	0	0	0	0	1	6161	825	29	1		1	G6PC	17	41062954	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	58510	41062954	40132256	489	14213										
RND2	8153	genome.wustl.edu	37	chr17	41177998	41177998	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gttatgtccccaccgtgtttGagaactacactgcgagcttt	9	11	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41177998G>C	ENST00000587250.2	+	2	231	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	RND2_ENST00000544533.1_Missense_Mutation_p.E42Q			P52198	RND2_HUMAN	Rho family GTPase 2	42					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCGTGTTTGAGAACTACAC	0.542																																																	0													131	107	115					17																	41177998		2203	4300	6503	SO:0001583	missense	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.124G>C	17.37:g.41177998G>C	ENSP00000466680:p.Glu42Gln		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E42Q	ENST00000587250.2	37	c.124	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621210	0.87460	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.79554	-1.28	4.44	4.44	0.53790	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.88512	2.96	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93130	0.6532	10	0.87932	D	0	.	17.2588	0.87064	0.0:0.0:1.0:0.0	.	42	P52198	RND2_HUMAN	Q	42	ENSP00000439328:E42Q	ENSP00000225973:E42Q	E	+	1	0	RND2	38431524	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.161000	0.94739	2.303000	0.77524	0.650000	0.86243	GAG	RND2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.542	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	G	NM_005440		41177998	1	no_errors	ENST00000544533	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41177998	G	C	41177998	3	2	97	1	0	0	0	0	1	0	0	0	13450	1291	45	1	130	1	RND2	17	41177998	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	115044	41177998	40017212	490	14214										
BRCA1	672	genome.wustl.edu	37	chr17	41209115	41209115	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctttggaccttggtggtttCttccattgaccacatctcct	8	12	2	1	rs397509241|rs397509240|rs273901753|rs80357852		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41209115C>T	ENST00000357654.3	-	19	5349	c.5231G>A	c.(5230-5232)aGa>aAa	p.R1744K	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.R602K|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1697K|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1505K|BRCA1_ENST00000491747.2_Missense_Mutation_p.R640K|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1479K|BRCA1_ENST00000591534.1_Missense_Mutation_p.R235K|BRCA1_ENST00000351666.3_Missense_Mutation_p.R561K|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1765K|BRCA1_ENST00000468300.1_Missense_Mutation_p.R640K|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1448K|BRCA1_ENST00000586385.1_Missense_Mutation_p.R54K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1744					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGTGGTTTCTTCCATTGAC	0.453			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													339	316	324					17																	41209115		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5231G>A	17.37:g.41209115C>T	ENSP00000350283:p.Arg1744Lys		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.R1765K	ENST00000357654.3	37	c.5294	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685540	0.88639	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	D;D;D;T;D;D;D;D;D	0.87412	-2.11;-2.25;-2.11;0.94;-2.11;-2.11;-2.11;-2.11;-2.11	5.07	5.07	0.68467	BRCT (1);	0.133437	0.34338	N	0.004053	D	0.87509	0.6195	L	0.27053	0.805	0.34091	D	0.660722	P;P;P;P;P;B;P	0.46912	0.85;0.522;0.69;0.493;0.818;0.013;0.886	P;B;B;B;B;B;P	0.58266	0.836;0.076;0.093;0.173;0.39;0.007;0.594	D	0.91337	0.5094	10	0.87932	D	0	.	13.8227	0.63333	0.0:1.0:0.0:0.0	.	593;54;639;640;1766;1744;1744	B4DES0;C6YB45;E7ETR2;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;BRCA1_HUMAN;.	K	1744;1765;1479;602;1505;561;1448;640;593;1766;1697;639	ENSP00000350283:R1744K;ENSP00000326002:R1479K;ENSP00000312236:R602K;ENSP00000246907:R1505K;ENSP00000338007:R561K;ENSP00000310938:R1448K;ENSP00000417148:R640K;ENSP00000377294:R593K;ENSP00000418775:R1697K	ENSP00000310938:R1448K	R	-	2	0	BRCA1	38462641	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.377000	0.44300	2.648000	0.89879	0.557000	0.71058	AGA	BRCA1	-	pirsf_BRCA1,superfamily_BRCT_dom		0.453	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41209115	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41209115	C	T	41209115	3	4	97	1	0	0	0	0	1	0	0	0	1501	913	32	1	380	1	BRCA1	17	41209115	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	31117	41209115	39986095	491	14215										
KIAA1267	284058	genome.wustl.edu	37	chr17	44249450	44249450	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaggatgggggagccagtttGaaccggatatggtgtgcttc	17	6	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:44249450G>C	ENST00000262419.6	-	2	530	c.60C>G	c.(58-60)ttC>ttG	p.F20L	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.F20L|KANSL1_ENST00000575318.1_Missense_Mutation_p.F20L|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Missense_Mutation_p.F20L|KANSL1_ENST00000432791.1_Missense_Mutation_p.F20L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	20					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGCCAGTTTGAACCGGATAT	0.567																																																	0													69	83	78					17																	44249450		2203	4300	6503	SO:0001583	missense	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.60C>G	17.37:g.44249450G>C	ENSP00000262419:p.Phe20Leu		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.F20L	ENST00000262419.6	37	c.60	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550386	0.86127	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.34072	1.38;1.38	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.73380	0.98;0.98	T	0.50154	-0.8861	10	0.87932	D	0	-10.9076	19.0558	0.93064	0.0:0.0:1.0:0.0	.	20;20	C9JHY2;Q7Z3B3	.;K1267_HUMAN	L	20	ENSP00000262419:F20L;ENSP00000387393:F20L	ENSP00000262419:F20L	F	-	3	2	KIAA1267	41605227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.209000	0.95087	2.840000	0.97914	0.655000	0.94253	TTC	KANSL1	-	NULL		0.567	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44249450	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44249450	G	C	44249450	3	2	97	1	0	0	0	0	1	0	0	0	8239	1281	45	1	3313	1	KIAA1267	17	44249450	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3040335	44249450	36945760	492	14216										
CDC27	996	genome.wustl.edu	37	chr17	45214547	45214547	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taatgtctaggattgactctGatagcatttcgaaaacaagc	8	7	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:45214547G>C	ENST00000066544.3	-	14	1977	c.1884C>G	c.(1882-1884)atC>atG	p.I628M	CDC27_ENST00000527547.1_Missense_Mutation_p.I627M|CDC27_ENST00000531206.1_Missense_Mutation_p.I634M|CDC27_ENST00000446365.2_Missense_Mutation_p.I567M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	628					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GATTGACTCTGATAGCATTTC	0.348																																																	0													49	50	50					17																	45214547		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1884C>G	17.37:g.45214547G>C	ENSP00000066544:p.Ile628Met		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I634M	ENST00000066544.3	37	c.1902	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181525	0.78677	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.81	4.82	0.62117	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.78456	2.415	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.76071	0.987;0.977;0.977;0.981	T	0.81549	-0.0882	10	0.87932	D	0	-27.2344	13.6109	0.62078	0.0:0.0:0.8385:0.1615	.	567;627;634;628	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	M	628;634;567;627	ENSP00000066544:I628M;ENSP00000434614:I634M;ENSP00000392802:I567M;ENSP00000437339:I627M	ENSP00000066544:I628M	I	-	3	3	CDC27	42569546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	1.409000	0.46915	0.585000	0.79938	ATC	CDC27	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	G			45214547	-1	no_errors	ENST00000531206	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45214547	G	C	45214547	3	2	97	1	0	0	0	0	1	0	0	0	3071	1280	45	1	614	1	CDC27	17	45214547	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	965097	45214547	35980663	493	14217										
CDC27	996	genome.wustl.edu	37	chr17	45219631	45219631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tagattaaaggcctgaatctGaggtgtgattgtggatattt	12	3	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:45219631G>A	ENST00000066544.3	-	11	1435	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q448*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q454*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q387*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	448					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCCTGAATCTGAGGTGTGATT	0.308																																																	0													31	31	31					17																	45219631		2202	4297	6499	SO:0001587	stop_gained	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1342C>T	17.37:g.45219631G>A	ENSP00000066544:p.Gln448*		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q454*	ENST00000066544.3	37	c.1360	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.989555	0.97179	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.58	5.58	0.84498	.	0.120686	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.1283	17.0728	0.86579	0.0:0.0:1.0:0.0	.	.	.	.	X	448;454;387;448	.	ENSP00000066544:Q448X	Q	-	1	0	CDC27	42574630	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.308000	0.72820	2.632000	0.89209	0.557000	0.71058	CAG	CDC27	-	NULL		0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	G			45219631	-1	no_errors	ENST00000531206	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	45219631	G	A	45219631	4	1	97	1	0	0	0	0	0	1	0	0	3071	1299	45	1	1168	1	CDC27	17	45219631	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5084	45219631	35975579	494	14218										
C17orf57	124989	genome.wustl.edu	37	chr17	45481351	45481351	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggattaagtcacctaaagaaGaggtagagaaaattcttcaa	9	5	3	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:45481351G>C	ENST00000331493.2	+	19	2536	c.2125G>C	c.(2125-2127)Gag>Cag	p.E709Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E613Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	709						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ACCTAAAGAAGAGGTAGAGAA	0.363																																																	0													81	87	85					17																	45481351		2203	4300	6503	SO:0001583	missense	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2125G>C	17.37:g.45481351G>C	ENSP00000332111:p.Glu709Gln		G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.E709Q	ENST00000331493.2	37	c.2125	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103019	0.37145	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.26660	1.72;1.72	4.04	1.93	0.25924	EF-hand-like domain (1);	0.659654	0.14537	N	0.313522	T	0.37461	0.1004	L	0.56769	1.78	0.19300	N	0.999977	D;D	0.76494	0.979;0.999	P;D	0.63703	0.658;0.917	T	0.08310	-1.0728	10	0.66056	D	0.02	1.7521	4.7818	0.13206	0.1226:0.224:0.6534:0.0	.	709;613	Q8IY85;G3V128	CQ057_HUMAN;.	Q	709;613	ENSP00000332111:E709Q;ENSP00000430048:E613Q	ENSP00000332111:E709Q	E	+	1	0	C17orf57	42836350	0.482000	0.25948	0.918000	0.36340	0.561000	0.35649	1.085000	0.30840	2.062000	0.61559	0.586000	0.80456	GAG	EFCAB13	-	NULL		0.363	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	G	NM_152347		45481351	1	no_errors	ENST00000331493	ensembl	human	known	70_37	missense	SNP	0.503	C	C	45481351	G	C	45481351	3	2	97	1	0	0	0	0	1	0	0	0	1869	943	33	1	2187	1	C17orf57	17	45481351	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	261720	45481351	35713859	495	14219										
GIP	2695	genome.wustl.edu	37	chr17	47038294	47038294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagcaagcaggccaacagctCttgaatcagcaagtcccgca	9	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:47038294C>G	ENST00000357424.2	-	5	506	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	136					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						GCCAACAGCTCTTGAATCAGC	0.537																																																	0													68	55	59					17																	47038294		2203	4300	6503	SO:0001583	missense	2695				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"Endogenous ligands"	4270	protein-coding gene	gene with protein product	"glucose-dependent insulinotropic polypeptide"	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.406G>C	17.37:g.47038294C>G	ENSP00000350005:p.Glu136Gln		Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.E136Q	ENST00000357424.2	37	c.406	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944032	0.34283	.	.	ENSG00000159224	ENST00000357424	T	0.29397	1.57	4.46	1.42	0.22433	.	0.328574	0.25753	N	0.028521	T	0.19087	0.0458	L	0.29908	0.895	0.28107	N	0.931171	P	0.48162	0.906	B	0.41571	0.36	T	0.09378	-1.0677	10	0.42905	T	0.14	-13.5963	6.5566	0.22464	0.0:0.7034:0.0:0.2966	.	136	P09681	GIP_HUMAN	Q	136	ENSP00000350005:E136Q	ENSP00000350005:E136Q	E	-	1	0	GIP	44393293	0.480000	0.25933	0.687000	0.30102	0.351000	0.29236	0.530000	0.23036	0.392000	0.25172	-0.156000	0.13503	GAG	GIP	-	NULL		0.537	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	C	NM_004123		47038294	-1	no_errors	ENST00000357424	ensembl	human	known	70_37	missense	SNP	0.802	G	G	47038294	C	G	47038294	3	3	97	1	0	0	0	0	1	0	0	0	6410	922	32	1	63	1	GIP	17	47038294	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1556943	47038294	34156916	496	14220										
B4GALNT2	124872	genome.wustl.edu	37	chr17	47236506	47236506	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcatttctaccagtgaccgGaagctgttgaagttcattct	8	9	4	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:47236506G>C	ENST00000300404.2	+	6	845	c.786G>C	c.(784-786)cgG>cgC	p.R262R	B4GALNT2_ENST00000504681.1_Silent_p.R176R|B4GALNT2_ENST00000393354.2_Silent_p.R202R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	262					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAGTGACCGGAAGCTGTTGA	0.532																																					GBM(124;244 1635 8663 18097 33175)												0													235	205	215					17																	47236506		2203	4300	6503	SO:0001819	synonymous_variant	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.786G>C	17.37:g.47236506G>C			B4DZE4|Q14CP1|Q86Y40	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R262	ENST00000300404.2	37	c.786	CCDS11544.1	17																																																																																			B4GALNT2	-	pirsf_GM2_synthase		0.532	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	G	NM_153446		47236506	1	no_errors	ENST00000300404	ensembl	human	known	70_37	silent	SNP	0.228	C	C	47236506	G	C	47236506	2	2	97	1	0	0	0	0	0	0	0	1	1268	1161	41	1		1	B4GALNT2	17	47236506	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	198212	47236506	33958704	497	14221										
CA10	56934	genome.wustl.edu	37	chr17	49710909	49710909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actgaagttgatattggtgcGgatgcagcggttgttgagtg	16	4	0	3	rs368512398		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:49710909G>A	ENST00000285273.4	-	9	2003	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	CA10_ENST00000442502.2_Missense_Mutation_p.R298C|CA10_ENST00000451037.2_Missense_Mutation_p.R298C|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000570565.1_Missense_Mutation_p.R223C|CA10_ENST00000340813.6_Missense_Mutation_p.R304C	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	298					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	ATATTGGTGCGGATGCAGCGG	0.532																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	136	118	124		892,892,892	5.4	1	17		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CA10	NM_001082533.1,NM_001082534.1,NM_020178.4	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	298/329,298/329,298/329	49710909	1,13005	2203	4300	6503	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.892C>T	17.37:g.49710909G>A	ENSP00000285273:p.Arg298Cys		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R304C	ENST00000285273.4	37	c.910	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.202341	0.94997	0.0	1.16E-4	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.051589	0.85682	D	0.000000	D	0.86234	0.5884	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88196	0.2880	10	0.87932	D	0	.	18.2623	0.90039	0.0:0.0:1.0:0.0	.	298;304;223	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	C	298;298;298;304	ENSP00000390666:R298C;ENSP00000285273:R298C;ENSP00000405388:R298C;ENSP00000340363:R304C	ENSP00000285273:R298C	R	-	1	0	CA10	47065908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.558000	0.86282	0.655000	0.94253	CGC	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.532	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	G	NM_020178		49710909	-1	no_errors	ENST00000340813	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49710909	G	A	49710909	3	1	97	1	0	0	0	0	1	0	0	0	2516	1116	39	2	102	2	CA10	17	49710909	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2474403	49710909	31484301	498	14222										
UNC13D	201294	genome.wustl.edu	37	chr17	73838662	73838662	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggcacacctaccccctgctCaatgcccagcaggcagtagg	10	16	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:73838662C>G	ENST00000207549.4	-	6	800	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.E141Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	141	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCCCTGCTCAATGCCCAGC	0.687									Familial Hemophagocytic Lymphohistiocytosis																																								0													44	47	46					17																	73838662		2203	4300	6503	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.421G>C	17.37:g.73838662C>G	ENSP00000207549:p.Glu141Gln		B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E141Q	ENST00000207549.4	37	c.421	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556354	0.65425	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.39997	1.05;1.05	4.45	4.45	0.53987	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.394274	0.23945	N	0.043002	T	0.39600	0.1084	N	0.25789	0.76	0.37805	D	0.927848	D	0.54601	0.967	P	0.55260	0.772	T	0.17930	-1.0353	10	0.13470	T	0.59	.	11.6894	0.51505	0.0:0.9135:0.0:0.0865	.	141	Q70J99	UN13D_HUMAN	Q	141	ENSP00000207549:E141Q;ENSP00000388093:E141Q	ENSP00000207549:E141Q	E	-	1	0	UNC13D	71350257	0.891000	0.30450	0.999000	0.59377	0.946000	0.59487	0.965000	0.29319	2.019000	0.59389	0.563000	0.77884	GAG	UNC13D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.687	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	C	XM_113950		73838662	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73838662	C	G	73838662	3	3	97	1	0	0	0	0	1	0	0	0	17018	835	29	1	2959	1	UNC13D	17	73838662	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	24127753	73838662	7356548	499	14223										
EXOC7	23265	genome.wustl.edu	37	chr17	74086476	74086476	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aactcggaaatcatgctcgtGacctggcgagatgtcggccg	13	11	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74086476G>A	ENST00000335146.7	-	8	1041	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	EXOC7_ENST00000607838.1_Missense_Mutation_p.H302Y|EXOC7_ENST00000589210.1_Intron|EXOC7_ENST00000411744.2_Missense_Mutation_p.H271Y|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000405575.4_Missense_Mutation_p.H302Y			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	330					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCTCGTGACCTGGCGAG	0.637																																																	0													55	57	56					17																	74086476		692	1591	2283	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.988C>T	17.37:g.74086476G>A	ENSP00000334100:p.His330Tyr		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.H330Y	ENST00000335146.7	37	c.988	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200490	0.22121	.	.	ENSG00000182473	ENST00000405575;ENST00000335146;ENST00000411744	.	.	.	5.2	5.2	0.72013	Cullin repeat-like-containing domain (1);	0.126603	0.52532	D	0.000068	T	0.35856	0.0946	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.35549	-0.9784	9	0.02654	T	1	-19.8431	18.7322	0.91739	0.0:0.0:1.0:0.0	.	271;302;330	Q9UPT5-5;Q9UPT5-6;Q9UPT5	.;.;EXOC7_HUMAN	Y	302;330;271	.	ENSP00000334100:H330Y	H	-	1	0	EXOC7	71598071	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.538000	0.73852	2.430000	0.82344	0.455000	0.32223	CAC	EXOC7	-	superfamily_Cullin_repeat-like_dom		0.637	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	G	NM_015219		74086476	-1	no_errors	ENST00000335146	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74086476	G	A	74086476	3	1	97	1	0	0	0	0	1	0	0	0	5322	1290	45	1	1271	1	EXOC7	17	74086476	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	247814	74086476	7108734	500	14224										
EXOC7	23265	genome.wustl.edu	37	chr17	74087299	74087299	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atactgtttcagaaggttctGagccttacggatcgtccctg	10	10	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74087299G>A	ENST00000335146.7	-	7	879	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	EXOC7_ENST00000607838.1_Nonsense_Mutation_p.Q276*|EXOC7_ENST00000589210.1_Nonsense_Mutation_p.Q276*|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Nonsense_Mutation_p.Q235*|EXOC7_ENST00000405575.4_Nonsense_Mutation_p.Q276*			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	276					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAAGGTTCTGAGCCTTACGG	0.532																																																	0													175	146	156					17																	74087299		2203	4300	6503	SO:0001587	stop_gained	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.826C>T	17.37:g.74087299G>A	ENSP00000334100:p.Gln276*		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Nonsense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.Q276*	ENST00000335146.7	37	c.826	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461370	0.84317	.	.	ENSG00000182473	ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372	.	.	.	5.81	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-28.1909	16.8932	0.86093	0.0:0.1283:0.8717:0.0	.	.	.	.	X	276;276;276;235	.	ENSP00000334100:Q276X	Q	-	1	0	EXOC7	71598894	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	9.229000	0.95273	1.435000	0.47434	-0.175000	0.13238	CAG	EXOC7	-	superfamily_Cullin_repeat-like_dom		0.532	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	G	NM_015219		74087299	-1	no_errors	ENST00000335146	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	74087299	G	A	74087299	4	1	97	1	0	0	0	0	0	1	0	0	5322	1299	45	1	1437	1	EXOC7	17	74087299	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	823	74087299	7107911	501	14225										
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74622103	74622103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctaacctgttcttcatgtatCggagaaagtctgggtgcagc	11	9	3	1	rs151127625		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74622103C>T	ENST00000156626.7	-	7	1689	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	497					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTCATGTATCGGAGAAAGTC	0.542																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	180	178	179		1490	4.3	0	17	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST6GALNAC1	NM_018414.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	497/601	74622103	2,13004	2203	4300	6503	SO:0001583	missense	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1490G>A	17.37:g.74622103C>T	ENSP00000156626:p.Arg497Gln		Q6UW90|Q9NSC6	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R497Q	ENST00000156626.7	37	c.1490	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699384	0.88830	2.27E-4	1.16E-4	ENSG00000070526	ENST00000156626	T	0.33216	1.42	5.28	4.3	0.51218	.	0.000000	0.64402	D	0.000001	T	0.51702	0.1690	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51442	-0.8705	10	0.41790	T	0.15	-14.8249	16.2785	0.82657	0.0:0.8673:0.1327:0.0	.	497	Q9NSC7	SIA7A_HUMAN	Q	497	ENSP00000156626:R497Q	ENSP00000156626:R497Q	R	-	2	0	ST6GALNAC1	72133698	0.760000	0.28428	0.023000	0.16930	0.995000	0.86356	1.623000	0.37008	1.349000	0.45751	0.655000	0.94253	CGA	ST6GALNAC1	-	pfam_Glyco_trans_29		0.542	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	C	NM_018414		74622103	-1	no_errors	ENST00000156626	ensembl	human	known	70_37	missense	SNP	0.968	T	T	74622103	C	T	74622103	3	4	97	1	0	0	0	0	1	0	0	0	15253	884	31	1	324	1	ST6GALNAC1	17	74622103	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	534804	74622103	6573107	502	14226										
GAA	2548	genome.wustl.edu	37	chr17	78078917	78078917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgatgatggagactgagaacCgcctccacttcacggtgggc	13	11	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:78078917C>T	ENST00000302262.3	+	2	751	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	GAA_ENST00000390015.3_Missense_Mutation_p.R178C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	178					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.R178C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GACTGAGAACCGCCTCCACTT	0.672																																																	1	Substitution - Missense(1)	central_nervous_system(1)											29	25	26					17																	78078917		2131	4192	6323	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.532C>T	17.37:g.78078917C>T	ENSP00000305692:p.Arg178Cys		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R178C	ENST00000302262.3	37	c.532	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639294	0.47153	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.81739	-1.53;-1.53	4.85	4.85	0.62838	Glycoside hydrolase-type carbohydrate-binding (1);	0.126303	0.53938	D	0.000043	T	0.80984	0.4729	M	0.87269	2.87	0.50171	D	0.999859	P	0.41947	0.766	B	0.37346	0.247	D	0.83786	0.0228	10	0.56958	D	0.05	-33.5955	10.6769	0.45792	0.3099:0.6901:0.0:0.0	.	178	P10253	LYAG_HUMAN	C	178	ENSP00000305692:R178C;ENSP00000374665:R178C	ENSP00000305692:R178C	R	+	1	0	GAA	75693512	0.061000	0.20836	0.966000	0.40874	0.932000	0.56968	0.450000	0.21762	2.231000	0.72958	0.591000	0.81541	CGC	GAA	-	superfamily_Glyco_hydro-type_carb-bd		0.672	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	C			78078917	1	no_errors	ENST00000302262	ensembl	human	known	70_37	missense	SNP	0.897	T	T	78078917	C	T	78078917	3	4	97	1	0	0	0	0	1	0	0	0	6165	652	23	2	534	2	GAA	17	78078917	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3456814	78078917	3116293	503	14227										
ACTG1	71	genome.wustl.edu	37	chr17	79478259	79478259	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctccggacaccggaaccgctCattgccaatggtgatgacct	10	14	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79478259C>T	ENST00000575842.1	-	3	1183	c.757G>A	c.(757-759)Gag>Aag	p.E253K	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E253K|ACTG1_ENST00000331925.2_Missense_Mutation_p.E253K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.E253K			P63261	ACTG_HUMAN	actin, gamma 1	253					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGGAACCGCTCATTGCCAATG	0.582																																																	0													70	70	70					17																	79478259		2203	4300	6503	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.757G>A	17.37:g.79478259C>T	ENSP00000458162:p.Glu253Lys		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E253K	ENST00000575842.1	37	c.757	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	c	16.63	3.176651	0.57692	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.95205	-3.64	4.56	3.59	0.41128	.	0.000000	0.64402	D	0.000001	D	0.98128	0.9382	H	0.98133	4.155	0.51012	D	0.999901	D	0.76494	0.999	D	0.91635	0.999	D	0.98074	1.0400	10	0.87932	D	0	.	11.4231	0.49993	0.0:0.91:0.0:0.0899	.	253	P63261	ACTG_HUMAN	K	253;211	ENSP00000331514:E253K	ENSP00000331514:E253K	E	-	1	0	ACTG1	77092854	1.000000	0.71417	0.947000	0.38551	0.583000	0.36354	7.396000	0.79891	0.941000	0.37499	0.553000	0.69018	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.582	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79478259	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79478259	C	T	79478259	3	4	97	1	0	0	0	0	1	0	0	0	196	835	29	1	382	1	ACTG1	17	79478259	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1399342	79478259	1716951	504	14228										
ACTG1	71	genome.wustl.edu	37	chr17	79478517	79478517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgggggagggcgtagccctCgtagatgggcaccgtgtggg	21	8	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79478517C>T	ENST00000575842.1	-	3	925	c.499G>A	c.(499-501)Gag>Aag	p.E167K	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E167K|ACTG1_ENST00000331925.2_Missense_Mutation_p.E167K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.E167K			P63261	ACTG_HUMAN	actin, gamma 1	167					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGTAGCCCTCGTAGATGGGC	0.647																																																	0													49	54	53					17																	79478517		2203	4299	6502	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.499G>A	17.37:g.79478517C>T	ENSP00000458162:p.Glu167Lys		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E167K	ENST00000575842.1	37	c.499	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	c	15.25	2.779274	0.49891	.	.	ENSG00000184009	ENST00000331925	D	0.97959	-4.63	4.6	3.63	0.41609	.	0.000000	0.64402	D	0.000001	D	0.97751	0.9262	H	0.97491	4.015	0.51233	D	0.999915	P	0.37441	0.595	B	0.32022	0.139	D	0.96819	0.9602	10	0.87932	D	0	.	11.3424	0.49541	0.0:0.9096:0.0:0.0904	.	167	P63261	ACTG_HUMAN	K	167	ENSP00000331514:E167K	ENSP00000331514:E167K	E	-	1	0	ACTG1	77093112	1.000000	0.71417	0.988000	0.46212	0.896000	0.52359	7.446000	0.80609	0.941000	0.37499	0.558000	0.71614	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.647	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79478517	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79478517	C	T	79478517	3	4	97	1	0	0	0	0	1	0	0	0	196	893	31	1	640	1	ACTG1	17	79478517	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	258	79478517	1716693	505	14229										
ACTG1	71	genome.wustl.edu	37	chr17	79479015	79479015	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctccggggccacgcgcagctCgttgtagaaggtgtggtgcc	16	12	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79479015C>A	ENST00000575842.1	-	2	703	c.277G>T	c.(277-279)Gag>Tag	p.E93*	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Nonsense_Mutation_p.E93*|ACTG1_ENST00000331925.2_Nonsense_Mutation_p.E93*|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Nonsense_Mutation_p.E93*			P63261	ACTG_HUMAN	actin, gamma 1	93					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGCGCAGCTCGTTGTAGAAG	0.617																																																	0													56	60	59					17																	79479015		2202	4300	6502	SO:0001587	stop_gained	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.277G>T	17.37:g.79479015C>A	ENSP00000458162:p.Glu93*		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E93*	ENST00000575842.1	37	c.277	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325820	0.81580	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	.	.	.	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0358	0.71744	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	ENSP00000331514:E93X	E	-	1	0	ACTG1	77093610	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	7.227000	0.78070	2.066000	0.61787	0.563000	0.77884	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.617	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79479015	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	79479015	C	A	79479015	4	1	97	1	0	0	0	0	0	1	0	0	196	893	31	3	866	3	ACTG1	17	79479015	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	498	79479015	1716195	506	14230										
SIRT7	51547	genome.wustl.edu	37	chr17	79870304	79870304	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcacgtgattacgtcactttCttcctttttgtgcgttttgt	8	9	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79870304C>G	ENST00000328666.6	-	10	1253	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000570388.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	397					histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACGTCACTTTCTTCCTTTTTG	0.607																																																	0													161	139	146					17																	79870304		2203	4300	6503	SO:0001583	missense	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.1191G>C	17.37:g.79870304C>G	ENSP00000329466:p.Lys397Asn		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.K397N	ENST00000328666.6	37	c.1191	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629344	0.46944	.	.	ENSG00000187531	ENST00000328666	T	0.36157	1.27	4.74	1.33	0.21861	.	0.179198	0.47093	D	0.000241	T	0.28001	0.0690	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.41313	0.745;0.241	B;B	0.37346	0.247;0.092	T	0.06991	-1.0796	10	0.72032	D	0.01	-12.6684	7.4061	0.26991	0.0:0.6114:0.0:0.3886	.	397;397	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	N	397	ENSP00000329466:K397N	ENSP00000329466:K397N	K	-	3	2	SIRT7	77463596	0.989000	0.36119	0.967000	0.41034	0.945000	0.59286	0.763000	0.26517	0.552000	0.29026	0.491000	0.48974	AAG	SIRT7	-	NULL		0.607	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	C	NM_016538		79870304	-1	no_errors	ENST00000328666	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79870304	C	G	79870304	3	3	97	1	0	0	0	0	1	0	0	0	14373	912	32	1	15	1	SIRT7	17	79870304	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	391289	79870304	1324906	507	14231										
EPB41L3	23136	genome.wustl.edu	37	chr18	5415862	5415862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcattgtctagggaggcgctCaaggaggccgccttgggctc	15	11	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:5415862C>G	ENST00000341928.2	-	13	2362	c.2022G>C	c.(2020-2022)ttG>ttC	p.L674F	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L674F	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	674	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAGGCGCTCAAGGAGGCCG	0.577																																																	0													88	83	85					18																	5415862		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2022G>C	18.37:g.5415862C>G	ENSP00000343158:p.Leu674Phe		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.L674F	ENST00000341928.2	37	c.2022	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554103	0.86231	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.85171	-1.95;-1.95	5.52	5.52	0.82312	.	0.102120	0.41396	D	0.000894	D	0.88969	0.6582	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90062	0.4157	10	0.72032	D	0.01	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	674	Q9Y2J2	E41L3_HUMAN	F	674	ENSP00000343158:L674F;ENSP00000341138:L674F	ENSP00000343158:L674F	L	-	3	2	EPB41L3	5405862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.003000	0.70701	2.586000	0.87340	0.563000	0.77884	TTG	EPB41L3	-	pirsf_Band_41_protein		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	C	NM_012307		5415862	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5415862	C	G	5415862	3	3	97	1	0	0	0	0	1	0	0	0	5166	825	29	1	1281	1	EPB41L3	18	5415862	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		5415862	72661386	508	14232										
KCTD1	284252	genome.wustl.edu	37	chr18	24081043	24081043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttttcagattacctggattCagggtatttggtgagggtgg	14	4	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:24081043C>T	ENST00000408011.3	-	2	716	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	KCTD1_ENST00000580059.1_Missense_Mutation_p.E53K|KCTD1_ENST00000579973.1_Missense_Mutation_p.E53K|KCTD1_ENST00000417602.1_Missense_Mutation_p.E661K|KCTD1_ENST00000317932.7_Missense_Mutation_p.E53K	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	53	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TACCTGGATTCAGGGTATTTG	0.498																																																	0													153	141	145					18																	24081043		2203	4300	6503	SO:0001583	missense	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.157G>A	18.37:g.24081043C>T	ENSP00000384367:p.Glu53Lys		A8K1F5	Missense_Mutation	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E661K	ENST00000408011.3	37	c.1981	CCDS11888.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.180797	0.94846	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.43294	0.95;0.95;0.95	5.68	5.68	0.88126	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.135466	0.64402	D	0.000003	T	0.45617	0.1351	L	0.27975	0.815	0.80722	D	1	P	0.39809	0.689	P	0.47705	0.555	T	0.43750	-0.9372	10	0.72032	D	0.01	.	19.7951	0.96477	0.0:1.0:0.0:0.0	.	53	Q719H9	KCTD1_HUMAN	K	53;661;53	ENSP00000314831:E53K;ENSP00000408405:E661K;ENSP00000384367:E53K	ENSP00000314831:E53K	E	-	1	0	KCTD1	22335041	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.412000	0.80091	2.698000	0.92095	0.561000	0.74099	GAA	KCTD1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.498	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1	C	XM_209091		24081043	-1	no_errors	ENST00000417602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24081043	C	T	24081043	3	4	97	1	0	0	0	0	1	0	0	0	8116	835	29	1	632	1	KCTD1	18	24081043	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	18665181	24081043	53996205	509	14233										
FAM59A	64762	genome.wustl.edu	37	chr18	29867235	29867235	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actttcccgggatgcctgctGattcttcactagcttctggg	10	12	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:29867235G>C	ENST00000269209.6	-	4	1328	c.1325C>G	c.(1324-1326)tCa>tGa	p.S442*	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Nonsense_Mutation_p.S442*|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	442					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GATGCCTGCTGATTCTTCACT	0.562																																																	0													106	110	109					18																	29867235		2203	4300	6503	SO:0001587	stop_gained	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1325C>G	18.37:g.29867235G>C	ENSP00000269209:p.Ser442*		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Nonsense_Mutation	SNP	superfamily_SAM/pointed	p.S442*	ENST00000269209.6	37	c.1325	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433816	0.62955	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	.	.	.	5.12	4.25	0.50352	.	0.476398	0.24798	N	0.035503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.8569	10.285	0.43562	0.1507:0.0:0.8493:0.0	.	.	.	.	X	442	.	ENSP00000269209:S442X	S	-	2	0	FAM59A	28121233	1.000000	0.71417	0.103000	0.21229	0.088000	0.18126	4.433000	0.59929	1.534000	0.49203	0.561000	0.74099	TCA	FAM59A	-	NULL		0.562	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	G	NM_022751		29867235	-1	no_errors	ENST00000269209	ensembl	human	known	70_37	nonsense	SNP	0.337	C	C	29867235	G	C	29867235	4	2	97	1	0	0	0	0	0	1	0	0	5610	1294	45	1	1314	1	FAM59A	18	29867235	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5786192	29867235	48210013	510	14234										
ST8SIA5	29906	genome.wustl.edu	37	chr18	44268784	44268784	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggttgatgtggtagatgccaCtggtgtccacctcatacttg	12	9	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:44268784C>G	ENST00000315087.7	-	4	1070	c.410G>C	c.(409-411)aGt>aCt	p.S137T	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S106T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S173T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	137					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTAGATGCCACTGGTGTCCAC	0.587																																																	0													195	166	176					18																	44268784		2203	4300	6503	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.410G>C	18.37:g.44268784C>G	ENSP00000321343:p.Ser137Thr		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S137T	ENST00000315087.7	37	c.410	CCDS11930.1	18	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723375	0.68959	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.29917	1.55;1.55;1.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	N	0.24115	0.695	0.80722	D	1	D;B;D	0.63880	0.96;0.073;0.993	P;B;P	0.58928	0.497;0.105;0.848	T	0.04440	-1.0951	10	0.16896	T	0.51	.	19.5805	0.95465	0.0:1.0:0.0:0.0	.	106;173;137	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	T	137;173;106	ENSP00000321343:S137T;ENSP00000445492:S173T;ENSP00000443683:S106T	ENSP00000321343:S137T	S	-	2	0	ST8SIA5	42522782	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	7.463000	0.80869	2.629000	0.89072	0.561000	0.74099	AGT	ST8SIA5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.587	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA5	HGNC	protein_coding	OTTHUMT00000255892.1	C	NM_013305		44268784	-1	no_errors	ENST00000315087	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44268784	C	G	44268784	3	3	97	1	0	0	0	0	1	0	0	0	15265	565	20	4	736	4	ST8SIA5	18	44268784	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	14401549	44268784	33808464	511	14235										
LMAN1	3998	genome.wustl.edu	37	chr18	56998762	56998762	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttctgggcatttcggcttttCatttgatggctgtaaggcaa	11	7	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:56998762C>A	ENST00000251047.5	-	12	2101	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	462					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TTCGGCTTTTCATTTGATGGC	0.333																																																	0													141	133	136					18																	56998762		2203	4300	6503	SO:0001587	stop_gained	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1384G>T	18.37:g.56998762C>A	ENSP00000251047:p.Glu462*		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Nonsense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily	p.E462*	ENST00000251047.5	37	c.1384	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972017	0.92919	.	.	ENSG00000074695	ENST00000251047	.	.	.	6.02	6.02	0.97574	.	0.094831	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-26.4334	20.1358	0.98028	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000251047:E462X	E	-	1	0	LMAN1	55149742	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	6.792000	0.75125	2.865000	0.98341	0.655000	0.94253	GAA	LMAN1	-	NULL		0.333	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	C	NM_005570		56998762	-1	no_errors	ENST00000251047	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	56998762	C	A	56998762	4	1	97	1	0	0	0	0	0	1	0	0	8857	835	29	3	156	3	LMAN1	18	56998762	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	12729978	56998762	21078486	512	14236										
KDSR	2531	genome.wustl.edu	37	chr18	61027005	61027005	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagtgcatttcaatttctttCtttgcctgcagcagcttatc	7	10	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:61027005C>G	ENST00000406396.3	-	3	610	c.219G>C	c.(217-219)aaG>aaC	p.K73N	KDSR_ENST00000326575.5_Missense_Mutation_p.K73N	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	73					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CAATTTCTTTCTTTGCCTGCA	0.358																																																	0													129	118	122					18																	61027005		2203	4299	6502	SO:0001583	missense	2531				CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.219G>C	18.37:g.61027005C>G	ENSP00000385083:p.Lys73Asn		B2R5Y1|B4DMX0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.K73N	ENST00000406396.3	37	c.219	CCDS11982.1	18	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099242	0.76983	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;D	0.88124	-2.34;-2.34	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.093070	0.64402	D	0.000001	D	0.88919	0.6568	L	0.41710	1.295	0.58432	D	0.999999	D;P	0.76494	0.999;0.837	D;P	0.69824	0.966;0.624	D	0.86244	0.1645	10	0.27082	T	0.32	.	11.7937	0.52084	0.0:0.9192:0.0:0.0808	.	73;73	B4DMX0;Q06136	.;KDSR_HUMAN	N	73	ENSP00000385083:K73N;ENSP00000312939:K73N	ENSP00000312939:K73N	K	-	3	2	KDSR	59177985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.459000	0.66685	2.534000	0.85438	0.591000	0.81541	AAG	KDSR	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.358	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDSR	HGNC	protein_coding	OTTHUMT00000256200.2	C			61027005	-1	no_errors	ENST00000406396	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61027005	C	G	61027005	3	3	97	1	0	0	0	0	1	0	0	0	8160	912	32	1	811	1	KDSR	18	61027005	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4028243	61027005	17050243	513	14237										
MADCAM1	8174	genome.wustl.edu	37	chr19	501714	501714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcctcccgacaccacctcccCggagtctcccgacaccacct	6	23	1	0	rs78071082	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGTCTCCC	0.667																																																	0													27	42	37					19																	501714		2202	4299	6501	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like	p.P238Q	ENST00000215637.3	37	c.713	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG	MADCAM1	-	NULL		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	C	NM_130760		501714	1	no_errors	ENST00000215637	ensembl	human	known	70_37	missense	SNP	0.000	A	A	501714	C	A	501714	3	1	97	1	0	0	0	0	1	0	0	0	9174	652	23	2	727	2	MADCAM1	19	501714	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		501714	58627269	514	14238										
PALM	5064	genome.wustl.edu	37	chr19	727627	727627	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctcggcctcagagggggatGaggacctgaggaggcagatg	18	9	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:727627G>A	ENST00000338448.5	+	4	248	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PALM_ENST00000264560.7_Missense_Mutation_p.E68K	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	68					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		AGAGGGGGATGAGGACCTGAG	0.687																																																	0													41	40	41					19																	727627		2182	4286	6468	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.202G>A	19.37:g.727627G>A	ENSP00000341911:p.Glu68Lys		O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	pfam_Paralemmin	p.E68K	ENST00000338448.5	37	c.202	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042957	0.55003	.	.	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.38077	1.4;1.16	3.64	1.31	0.21738	.	0.182527	0.46758	N	0.000264	T	0.34600	0.0903	M	0.80616	2.505	0.37413	D	0.913316	P;B;B	0.38535	0.635;0.206;0.13	B;B;B	0.34873	0.108;0.191;0.093	T	0.32455	-0.9906	10	0.87932	D	0	-19.5477	6.465	0.21977	0.102:0.0:0.7187:0.1793	.	68;68;68	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	K	68	ENSP00000341911:E68K;ENSP00000264560:E68K	ENSP00000264560:E68K	E	+	1	0	PALM	678627	1.000000	0.71417	0.152000	0.22495	0.956000	0.61745	4.120000	0.57897	0.131000	0.18576	0.491000	0.48974	GAG	PALM	-	NULL		0.687	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	G	NM_002579		727627	1	no_errors	ENST00000338448	ensembl	human	known	70_37	missense	SNP	0.986	A	A	727627	G	A	727627	3	1	97	1	0	0	0	0	1	0	0	0	11432	1291	45	1	216	1	PALM	19	727627	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	225913	727627	58401356	515	14239										
MED16	10025	genome.wustl.edu	37	chr19	872088	872088	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagcgaggtgccgtcccgcaGaaagctgtggcccggcctca	14	15	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:872088G>A	ENST00000589119.1	-	11	1935	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	MED16_ENST00000325464.1_Silent_p.L646L|MED16_ENST00000395808.3_Silent_p.L646L|MED16_ENST00000269814.4_Intron|MED16_ENST00000312090.6_Silent_p.L646L|MED16_ENST00000606828.1_5'Flank			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	646					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCCCGCAGAAAGCTGTGG	0.657																																																	0													35	33	34					19																	872088		2169	4278	6447	SO:0001819	synonymous_variant	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1936C>T	19.37:g.872088G>A			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L646	ENST00000589119.1	37	c.1936	CCDS12047.1	19																																																																																			MED16	-	pfam_Mediator_Med16		0.657	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	G	NM_005481		872088	-1	no_errors	ENST00000325464	ensembl	human	known	70_37	silent	SNP	1.000	A	A	872088	G	A	872088	2	1	97	1	0	0	0	0	0	0	0	1	9457	933	33	1		1	MED16	19	872088	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	144461	872088	58256895	516	14240										
DAPK3	1613	genome.wustl.edu	37	chr19	3959554	3959554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgcgacttgatggtgtactCcttcagacgcgtggtcttca	12	10	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:3959554C>T	ENST00000545797.2	-	9	1153	c.910G>A	c.(910-912)Gag>Aag	p.E304K	DAPK3_ENST00000301264.3_Missense_Mutation_p.E304K|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	304					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTGTACTCCTTCAGACGC	0.672																																																	0													24	17	19					19																	3959554		2069	4080	6149	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.910G>A	19.37:g.3959554C>T	ENSP00000442973:p.Glu304Lys		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.E304K	ENST00000545797.2	37	c.910	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.566894	0.96540	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.39787	1.06;1.06	4.91	4.91	0.64330	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	L	0.61218	1.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.68483	0.958	T	0.52924	-0.8510	10	0.11485	T	0.65	.	16.6627	0.85245	0.0:1.0:0.0:0.0	.	304	O43293	DAPK3_HUMAN	K	304;304;159	ENSP00000301264:E304K;ENSP00000442973:E304K	ENSP00000301264:E304K	E	-	1	0	DAPK3	3910554	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.632000	0.67819	2.279000	0.76181	0.561000	0.74099	GAG	DAPK3	-	superfamily_Kinase-like_dom		0.672	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	C	NM_001348		3959554	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3959554	C	T	3959554	3	4	97	1	0	0	0	0	1	0	0	0	4242	864	30	1	458	1	DAPK3	19	3959554	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3087466	3959554	55169429	517	14241										
PLIN5	440503	genome.wustl.edu	37	chr19	4525824	4525824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgaacccacttcagggccttCagcctcagccgccagtgccg	10	18	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:4525824C>T	ENST00000381848.3	-	6	621	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	181					lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCAGGGCCTTCAGCCTCAGCC	0.657																																																	0													15	21	19					19																	4525824		2011	4150	6161	SO:0001583	missense	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.541G>A	19.37:g.4525824C>T	ENSP00000371272:p.Glu181Lys		A2RRC1|Q6ZS68	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.E181K	ENST00000381848.3	37	c.541	CCDS42473.1	19	.	.	.	.	.	.	.	.	.	.	.	13.56	2.275005	0.40194	.	.	ENSG00000214456	ENST00000381848	T	0.06449	3.3	4.92	1.37	0.22104	.	0.443645	0.19144	U	0.121639	T	0.11196	0.0273	L	0.58428	1.81	0.80722	D	1	P	0.38300	0.626	B	0.42625	0.393	T	0.07597	-1.0764	10	0.72032	D	0.01	-16.824	14.7665	0.69642	0.0:0.7051:0.2949:0.0	.	181	Q00G26	PLIN5_HUMAN	K	181	ENSP00000371272:E181K	ENSP00000371272:E181K	E	-	1	0	PLIN5	4476824	0.022000	0.18835	0.866000	0.34008	0.181000	0.23173	0.726000	0.25984	0.169000	0.19679	0.561000	0.74099	GAA	PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.657	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	C	NM_001013706		4525824	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	missense	SNP	0.924	T	T	4525824	C	T	4525824	3	4	97	1	0	0	0	0	1	0	0	0	12117	835	29	1	862	1	PLIN5	19	4525824	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	566270	4525824	54603159	518	14242										
ZNRF4	148066	genome.wustl.edu	37	chr19	5455848	5455848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctcggtggactttgcggatCtgccggcgctgttcggcgtc	16	12	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:5455848C>T	ENST00000222033.4	+	1	423	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	116						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTTTGCGGATCTGCCGGCGCT	0.672																																																	0													50	58	56					19																	5455848		2108	4207	6315	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.346C>T	19.37:g.5455848C>T			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L116	ENST00000222033.4	37	c.346	CCDS42475.1	19																																																																																			ZNRF4	-	NULL		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	C	NM_181710		5455848	1	no_errors	ENST00000222033	ensembl	human	known	70_37	silent	SNP	0.036	T	T	5455848	C	T	5455848	2	4	97	1	0	0	0	0	0	0	0	1	18244	912	32	1		1	ZNRF4	19	5455848	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	930024	5455848	53673135	519	14243										
ALKBH7	84266	genome.wustl.edu	37	chr19	6372893	6372893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcccagctgggtgcgaggctCgggcccttccgtgctgagcc	16	15	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:6372893C>G	ENST00000245812.3	+	1	450	c.62C>G	c.(61-63)tCg>tGg	p.S21W	ALKBH7_ENST00000596657.1_5'Flank|ALKBH7_ENST00000599849.1_5'Flank	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	21					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTGCGAGGCTCGGGCCCTTCC	0.721																																																	0													4	5	4					19																	6372893		1991	3965	5956	SO:0001583	missense	84266			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"Alkylation repair homologs"	21306	protein-coding gene	gene with protein product		613305	"spermatogenesis associated 11"	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.62C>G	19.37:g.6372893C>G	ENSP00000245812:p.Ser21Trp		B2R4U9|Q53FF3	Missense_Mutation	SNP	NULL	p.S21W	ENST00000245812.3	37	c.62	CCDS12163.1	19	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220157	0.58560	.	.	ENSG00000125652	ENST00000245812	T	0.47869	0.83	4.66	3.53	0.40419	.	0.000000	0.64402	D	0.000001	T	0.52158	0.1717	L	0.27053	0.805	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	T	0.52132	-0.8616	10	0.52906	T	0.07	-19.8122	11.368	0.49684	0.1815:0.8185:0.0:0.0	.	21	Q9BT30	ALKB7_HUMAN	W	21	ENSP00000245812:S21W	ENSP00000245812:S21W	S	+	2	0	ALKBH7	6323893	0.266000	0.24112	0.911000	0.35937	0.164000	0.22412	0.929000	0.28844	2.529000	0.85273	0.305000	0.20034	TCG	ALKBH7	-	NULL		0.721	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH7	HGNC	protein_coding	OTTHUMT00000453036.1	C	NM_032306		6372893	1	no_errors	ENST00000245812	ensembl	human	known	70_37	missense	SNP	0.983	G	G	6372893	C	G	6372893	3	3	97	1	0	0	0	0	1	0	0	0	532	893	31	1	64	1	ALKBH7	19	6372893	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	917045	6372893	52756090	520	14244										
MCOLN1	57192	genome.wustl.edu	37	chr19	7595300	7595300	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtgtggctcttctcccagctCtacctttactccttcatcag	6	15	5	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:7595300C>T	ENST00000264079.6	+	12	1613	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	496					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTCCCAGCTCTACCTTTACT	0.592																																																	0													257	242	247					19																	7595300		2203	4300	6503	SO:0001819	synonymous_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1488C>T	19.37:g.7595300C>T			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.L496	ENST00000264079.6	37	c.1488	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel		0.592	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7595300	1	no_errors	ENST00000264079	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7595300	C	T	7595300	2	4	97	1	0	0	0	0	0	0	0	1	9418	900	32	1		1	MCOLN1	19	7595300	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1222407	7595300	51533683	521	14245										
MCOLN1	57192	genome.wustl.edu	37	chr19	7595360	7595360	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctcagcctcttcatcgcgctCatcaccggcgcctacgacac	7	19	5	0	rs530169769		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:7595360C>G	ENST00000264079.6	+	12	1673	c.1548C>G	c.(1546-1548)ctC>ctG	p.L516L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	516					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCGCGCTCATCACCGGCG	0.617																																																	0													193	182	186					19																	7595360		2203	4300	6503	SO:0001819	synonymous_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1548C>G	19.37:g.7595360C>G			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.L516	ENST00000264079.6	37	c.1548	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel		0.617	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7595360	1	no_errors	ENST00000264079	ensembl	human	known	70_37	silent	SNP	1.000	G	G	7595360	C	G	7595360	2	3	97	1	0	0	0	0	0	0	0	1	9418	813	29	1		1	MCOLN1	19	7595360	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	60	7595360	51533623	522	14246										
ICAM3	3385	genome.wustl.edu	37	chr19	10446644	10446644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggtgccagctccacacgctCcgggagccctgagagaggag	16	13	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:10446644C>T	ENST00000160262.5	-	3	560	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ICAM3_ENST00000589261.1_Missense_Mutation_p.E41K|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	118					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCCACACGCTCCGGGAGCCCT	0.682																																																	0													6	6	6					19																	10446644		2134	4193	6327	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.352G>A	19.37:g.10446644C>T	ENSP00000160262:p.Glu118Lys		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.E118K	ENST00000160262.5	37	c.352	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449434	0.63178	.	.	ENSG00000076662	ENST00000160262	T	0.03607	3.87	5.16	-0.98	0.10272	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.148980	0.06345	N	0.708844	T	0.07098	0.0180	L	0.43701	1.375	0.09310	N	1	P;P	0.41188	0.539;0.741	P;P	0.51229	0.593;0.663	T	0.40664	-0.9551	10	0.46703	T	0.11	-8.3836	4.6179	0.12435	0.0:0.4326:0.3044:0.263	.	41;118	B7Z6W6;P32942	.;ICAM3_HUMAN	K	118	ENSP00000160262:E118K	ENSP00000160262:E118K	E	-	1	0	ICAM3	10307644	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.112000	0.10791	0.003000	0.14656	0.505000	0.49811	GAG	ICAM3	-	pfam_ICAM_N,pfscan_Ig-like,prints_ICAM_VCAM_N		0.682	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	C			10446644	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	missense	SNP	0.000	T	T	10446644	C	T	10446644	3	4	97	1	0	0	0	0	1	0	0	0	7501	864	30	1	1311	1	ICAM3	19	10446644	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2851284	10446644	48682339	523	14247										
TYK2	7297	genome.wustl.edu	37	chr19	10472206	10472206	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctttcagggccgcgcacacaGacgccatgcacgaaggccag	12	15	1	1	rs563722782		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:10472206G>A	ENST00000525621.1	-	14	2509	c.2028C>T	c.(2026-2028)gtC>gtT	p.V676V	TYK2_ENST00000529370.1_Silent_p.V676V|TYK2_ENST00000524462.1_Silent_p.V491V|TYK2_ENST00000264818.6_Silent_p.V676V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	676	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGCGCACACAGACGCCATGCA	0.637													g|||	1	0.000199681	0	0	5008	,	,		10736	0		0.001	False		,,,				2504	0																0													55	43	47					19																	10472206		1955	3812	5767	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2028C>T	19.37:g.10472206G>A			Q6QB10|Q96CH0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.V676	ENST00000525621.1	37	c.2028	CCDS12236.1	19																																																																																			TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	G			10472206	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	silent	SNP	0.988	A	A	10472206	G	A	10472206	2	1	97	1	0	0	0	0	0	0	0	1	16841	929	33	1		1	TYK2	19	10472206	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	25562	10472206	48656777	524	14248										
PDE4A	5141	genome.wustl.edu	37	chr19	10557036	10557036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accgctcagacagcgactatGacatgtcacccaagaccatg	8	14	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:10557036G>A	ENST00000352831.6	+	2	573	c.463G>A	c.(463-465)Gac>Aac	p.D155N	PDE4A_ENST00000380702.2_Missense_Mutation_p.D133N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D94N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D129N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D133N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	155					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CAGCGACTATGACATGTCACC	0.667																																																	0													78	54	61					19																	10557036		1568	3582	5150	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.463G>A	19.37:g.10557036G>A	ENSP00000270474:p.Asp155Asn		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D155N	ENST00000352831.6	37	c.463	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037155	0.75617	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014	T;T;T;T	0.70516	-0.48;-0.48;-0.49;-0.46	4.11	4.11	0.48088	.	.	.	.	.	T	0.70386	0.3218	L	0.58510	1.815	0.50313	D	0.999861	B;P;B	0.44877	0.328;0.845;0.373	B;P;B	0.44860	0.124;0.462;0.273	T	0.74788	-0.3546	9	0.56958	D	0.05	.	13.9102	0.63862	0.0:0.0:1.0:0.0	.	94;129;155	P27815-6;P27815-2;P27815	.;.;PDE4A_HUMAN	N	133;155;129;94	ENSP00000370078:D133N;ENSP00000270474:D155N;ENSP00000293683:D129N;ENSP00000394754:D94N	ENSP00000293683:D129N	D	+	1	0	PDE4A	10418036	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.444000	0.97578	2.120000	0.65058	0.555000	0.69702	GAC	PDE4A	-	NULL		0.667	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	G			10557036	1	no_errors	ENST00000352831	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10557036	G	A	10557036	3	1	97	1	0	0	0	0	1	0	0	0	11663	1290	45	1	856	1	PDE4A	19	10557036	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	84830	10557036	48571947	525	14249										
NACC1	112939	genome.wustl.edu	37	chr19	13248327	13248327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagctgcggcaccggcatccGctcttctaccaacgatcccc	8	19	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:13248327G>A	ENST00000292431.4	+	5	1388	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	421	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACCGGCATCCGCTCTTCTACC	0.672																																																	0													18	19	19					19																	13248327		2201	4294	6495	SO:0001583	missense	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1262G>A	19.37:g.13248327G>A	ENSP00000292431:p.Arg421His			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R421H	ENST00000292431.4	37	c.1262	CCDS12294.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316147	0.81469	.	.	ENSG00000160877	ENST00000292431	T	0.47869	0.83	4.33	4.33	0.51752	BEN domain (2);	0.064498	0.64402	D	0.000010	T	0.53498	0.1800	N	0.19112	0.55	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	T	0.60306	-0.7289	10	0.87932	D	0	.	14.4268	0.67220	0.0:0.0:1.0:0.0	.	421	Q96RE7	NACC1_HUMAN	H	421	ENSP00000292431:R421H	ENSP00000292431:R421H	R	+	2	0	NACC1	13109327	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	9.177000	0.94849	2.267000	0.75376	0.555000	0.69702	CGC	NACC1	-	pfam_BEN_domain		0.672	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	G	NM_052876		13248327	1	no_errors	ENST00000292431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13248327	G	A	13248327	3	1	97	1	0	0	0	0	1	0	0	0	10158	1087	38	2	1276	2	NACC1	19	13248327	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2691291	13248327	45880656	526	14250										
WIZ	58525	genome.wustl.edu	37	chr19	15537963	15537963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccaggcctgggaacatctttCgggccgtaggaggaggagag	17	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:15537963C>T	ENST00000389282.4	-	6	3695	c.3482G>A	c.(3481-3483)cGa>cAa	p.R1161Q	WIZ_ENST00000263381.7_Missense_Mutation_p.R304Q|WIZ_ENST00000599686.3_Missense_Mutation_p.R345Q|WIZ_ENST00000545156.1_Missense_Mutation_p.R475Q|WIZ_ENST00000599910.2_Missense_Mutation_p.R478Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1161	Pro-rich.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GAACATCTTTCGGGCCGTAGG	0.627																																																	0													42	46	45					19																	15537963		1988	4165	6153	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3482G>A	19.37:g.15537963C>T	ENSP00000373933:p.Arg1161Gln		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1161Q	ENST00000389282.4	37	c.3482		19	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665967	0.88251	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.31769	1.48;1.48;1.48	5.51	5.51	0.81932	.	0.638631	0.15943	N	0.237115	T	0.41166	0.1147	N	0.24115	0.695	0.34356	D	0.690402	D;D;D	0.76494	0.994;0.999;0.998	P;D;P	0.69654	0.637;0.965;0.791	T	0.51624	-0.8682	10	0.59425	D	0.04	-17.5955	13.8864	0.63710	0.0:0.847:0.153:0.0	.	1161;304;345	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	Q	1161;304;345;475	ENSP00000373933:R1161Q;ENSP00000263381:R304Q;ENSP00000445824:R475Q	ENSP00000263381:R304Q	R	-	2	0	WIZ	15398963	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.596000	0.54024	2.590000	0.87494	0.561000	0.74099	CGA	WIZ	-	NULL		0.627	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15537963	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.998	T	T	15537963	C	T	15537963	3	4	97	1	0	0	0	0	1	0	0	0	17406	884	31	1	1493	1	WIZ	19	15537963	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2289636	15537963	43591020	527	14251										
JUND	3727	genome.wustl.edu	37	chr19	18391505	18391505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cttgatgcgctcctgcgtgtCcatgtcgatgggcgacaacg	13	12	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:18391505C>A	ENST00000252818.3	-	1	927	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	264					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TCCTGCGTGTCCATGTCGATG	0.706																																																	0													18	19	19					19																	18391505		2170	4233	6403	SO:0001583	missense	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.790G>T	19.37:g.18391505C>A	ENSP00000252818:p.Asp264Tyr		Q53EK9	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.D264Y	ENST00000252818.3	37	c.790	CCDS32959.1	19	.	.	.	.	.	.	.	.	.	.	.	22.0	4.234311	0.79688	.	.	ENSG00000130522	ENST00000252818	T	0.26810	1.71	3.16	3.16	0.36331	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	U	0.000000	T	0.45013	0.1321	M	0.69823	2.125	0.58432	D	0.999998	D	0.69078	0.997	P	0.62813	0.907	T	0.50808	-0.8784	10	0.87932	D	0	.	12.2195	0.54425	0.0:1.0:0.0:0.0	.	264	P17535	JUND_HUMAN	Y	264	ENSP00000252818:D264Y	ENSP00000252818:D264Y	D	-	1	0	JUND	18252505	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	6.973000	0.76116	1.790000	0.52503	0.450000	0.29827	GAC	JUND	-	superfamily_Euk_TF_DNA-bd,prints_Leuzip_Jun		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	C	NM_005354		18391505	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18391505	C	A	18391505	3	1	97	1	0	0	0	0	1	0	0	0	7991	855	30	3	257	3	JUND	19	18391505	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2853542	18391505	40737478	528	14252										
ZNF507	22847	genome.wustl.edu	37	chr19	32843799	32843799	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggggaacaggaagctatactGactgctgaaagtatcatcag	12	7	2	2	rs368961693		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:32843799G>A	ENST00000311921.4	+	2	255	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ZNF507_ENST00000355898.5_Silent_p.L21L|ZNF507_ENST00000544431.1_Silent_p.L21L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAGCTATACTGACTGCTGAAA	0.363																																																	0								G	,	0,4406		0,0,2203	92	90	91		63,63	3.4	1	19		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF507	NM_001136156.1,NM_014910.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	21/954,21/954	32843799	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.63G>A	19.37:g.32843799G>A			A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L21	ENST00000311921.4	37	c.63	CCDS32985.1	19																																																																																			ZNF507	-	NULL		0.363	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	G	NM_014910		32843799	1	no_errors	ENST00000311921	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32843799	G	A	32843799	2	1	97	1	0	0	0	0	0	0	0	1	17983	1277	45	1		1	ZNF507	19	32843799	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	14452294	32843799	26285184	529	14253										
HAUS5	23354	genome.wustl.edu	37	chr19	36109886	36109886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgcaggatgcagctgggcatCggcagctcctgctgagggag	17	10	0	1	rs371815199		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:36109886C>T	ENST00000203166.5	+	13	1139	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	372					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCTGGGCATCGGCAGCTCCT	0.657																																																	0													32	35	34					19																	36109886		1980	4164	6144	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1114C>T	19.37:g.36109886C>T	ENSP00000439056:p.Arg372Trp		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.R372W	ENST00000203166.5	37	c.1114	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015138	0.54468	.	.	ENSG00000249115	ENST00000203166	T	0.37915	1.17	5.6	3.26	0.37387	.	0.406151	0.23624	N	0.046202	T	0.49440	0.1557	M	0.63843	1.955	0.09310	N	0.999997	D	0.71674	0.998	P	0.58130	0.833	T	0.40590	-0.9555	10	0.72032	D	0.01	-2.4057	11.8854	0.52600	0.3285:0.6715:0.0:0.0	.	372	O94927	HAUS5_HUMAN	W	372	ENSP00000439056:R372W	ENSP00000439056:R372W	R	+	1	2	HAUS5	40801726	0.013000	0.17824	0.102000	0.21198	0.574000	0.36063	0.677000	0.25262	1.355000	0.45865	0.563000	0.77884	CGG	HAUS5	-	NULL		0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	C			36109886	1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	0.030	T	T	36109886	C	T	36109886	3	4	97	1	0	0	0	0	1	0	0	0	6989	875	31	1	1164	1	HAUS5	19	36109886	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3266087	36109886	23019097	530	14254										
MLL4	9757	genome.wustl.edu	37	chr19	36212558	36212558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gccgtcaccacagcagatgcCtcccctggaaaaagcccgga	10	16	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:36212558C>T	ENST00000222270.7	+	3	2309	c.2309C>T	c.(2308-2310)cCt>cTt	p.P770L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P770L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	770	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CAGCAGATGCCTCCCCTGGAA	0.627																																																	0													26	35	32					19																	36212558		2108	4249	6357	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2309C>T	19.37:g.36212558C>T	ENSP00000222270:p.Pro770Leu		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P770L	ENST00000222270.7	37	c.2309	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	6.697	0.497176	0.12762	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84370	-1.84;-1.84	5.14	4.11	0.48088	.	0.460113	0.16101	U	0.229577	T	0.73705	0.3621	N	0.14661	0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.66148	-0.5996	10	0.66056	D	0.02	.	11.0422	0.47838	0.0:0.9125:0.0:0.0875	.	770	Q9UMN6	MLL4_HUMAN	L	770	ENSP00000222270:P770L;ENSP00000398837:P770L	ENSP00000222270:P770L	P	+	2	0	AD000671.1	40904398	0.000000	0.05858	0.002000	0.10522	0.254000	0.26022	0.843000	0.27640	1.401000	0.46761	0.471000	0.43371	CCT	WBP7	-	pirsf_MeTrfase_trithorax		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		C	NM_014727		36212558	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	0.005	T	T	36212558	C	T	36212558	3	4	97	1	0	0	0	0	1	0	0	0	9646	681	24	4	2319	4	MLL4	19	36212558	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	102672	36212558	22916425	531	14255										
ZNF420	147923	genome.wustl.edu	37	chr19	37619729	37619729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cagagaatccatactggtgaGaagccctatgaatgcagaga	11	8	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:37619729G>C	ENST00000337995.3	+	5	2051	c.1836G>C	c.(1834-1836)gaG>gaC	p.E612D	ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACTGGTGAGAAGCCCTATG	0.428																																																	0													69	66	67					19																	37619729		2203	4300	6503	SO:0001583	missense	147923			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1836G>C	19.37:g.37619729G>C	ENSP00000338770:p.Glu612Asp		B2RDY6|Q96ML5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E612D	ENST00000337995.3	37	c.1836	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287184	0.59867	.	.	ENSG00000197050	ENST00000337995	T	0.26810	1.71	4.28	-4.29	0.03721	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21103	0.0508	N	0.10874	0.06	0.80722	D	1	D	0.57571	0.98	D	0.70935	0.971	T	0.43988	-0.9357	8	.	.	.	.	6.15	0.20306	0.4552:0.0:0.4244:0.1204	.	612	Q8TAQ5	ZN420_HUMAN	D	612	ENSP00000338770:E612D	.	E	+	3	2	ZNF420	42311569	0.994000	0.37717	0.977000	0.42913	0.991000	0.79684	0.263000	0.18478	-0.246000	0.09611	-0.150000	0.13652	GAG	ZNF420	-	pfscan_Znf_C2H2		0.428	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	G	NM_144689		37619729	1	no_errors	ENST00000337995	ensembl	human	known	70_37	missense	SNP	0.995	C	C	37619729	G	C	37619729	3	2	97	1	0	0	0	0	1	0	0	0	17927	933	33	1	1846	1	ZNF420	19	37619729	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1407171	37619729	21509254	532	14256										
RYR1	6261	genome.wustl.edu	37	chr19	38979846	38979846	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atctttggcgatgaggatgtGaaacagatcttgaagatgat	12	4	2	6			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:38979846G>A	ENST00000359596.3	+	35	5577	c.5577G>A	c.(5575-5577)gtG>gtA	p.V1859V	RYR1_ENST00000360985.3_Silent_p.V1859V|RYR1_ENST00000355481.4_Silent_p.V1859V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1859	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGAGGATGTGAAACAGATCT	0.527																																																	0													135	113	121					19																	38979846		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5577G>A	19.37:g.38979846G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V1859	ENST00000359596.3	37	c.5577	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.527	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38979846	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.887	A	A	38979846	G	A	38979846	2	1	97	1	0	0	0	0	0	0	0	1	13798	1277	45	1		1	RYR1	19	38979846	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1360117	38979846	20149137	533	14257										
MAP4K1	11184	genome.wustl.edu	37	chr19	39096370	39096370	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgatggagaacggaacttggGctttggagacgggaatggag	18	4	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:39096370G>A	ENST00000591517.1	-	18	1229	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589002.1_5'Flank|MAP4K1_ENST00000423454.2_Splice_Site_p.P63S|MAP4K1_ENST00000396857.2_Splice_Site_p.P401S|MAP4K1_ENST00000589130.1_Splice_Site_p.P397S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	401					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGAACTTGGGCTTTGGAGAC	0.602																																																	0													16	17	17					19																	39096370		1950	4096	6046	SO:0001630	splice_region_variant	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1201-1C>T	19.37:g.39096370G>A				Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P401S	ENST00000591517.1	37	c.1201	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	.	9.856	1.195083	0.22037	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.24151	1.87;2.6	5.35	4.11	0.48088	.	0.209202	0.40469	N	0.001100	T	0.14743	0.0356	N	0.24115	0.695	0.35866	D	0.827865	P;B;B	0.34864	0.473;0.035;0.02	B;B;B	0.26416	0.069;0.019;0.008	T	0.19128	-1.0315	10	0.32370	T	0.25	.	11.8961	0.52658	0.0989:0.0:0.9011:0.0	.	63;401;401	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	401;401;63	ENSP00000380066:P401S;ENSP00000396383:P63S	ENSP00000221409:P401S	P	-	1	0	MAP4K1	43788210	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.279000	0.51670	2.506000	0.84524	0.462000	0.41574	CCC	MAP4K1	-	NULL		0.602	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	G	NM_001042600	Missense_Mutation	39096370	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39096370	G	A	39096370	5	1	97	1	0	0	0	0	0	0	1	0	9282	1217	42	4	1422	4	MAP4K1	19	39096370	Splice_Site	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	116524	39096370	20032613	534	14258										
CLC	1178	genome.wustl.edu	37	chr19	40224976	40224976	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcaaattcttggccatcctGaaagggcatattcttggatt	8	8	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:40224976G>A	ENST00000221804.4	-	3	325	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	84	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TGGCCATCCTGAAAGGGCATA	0.542																																																	0													189	154	166					19																	40224976		2203	4300	6503	SO:0001587	stop_gained	1178			L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"Lectins, galactoside-binding"	2014	protein-coding gene	gene with protein product	"eosinophil lysophospholipase", "lysolecithin acylhydrolase", "galectin 10", "lectin, galactoside-binding, soluble, 10"	153310	"Charcot-Leyden crystal protein"			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.250C>T	19.37:g.40224976G>A	ENSP00000221804:p.Gln84*		C5HZ13|C5HZ14|Q0VDE3	Nonsense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.Q84*	ENST00000221804.4	37	c.250	CCDS33025.1	19	.	.	.	.	.	.	.	.	.	.	.	10.16	1.273512	0.23221	.	.	ENSG00000105205	ENST00000221804	.	.	.	1.22	-2.43	0.06522	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	2.3078	0.04178	0.429:0.3025:0.2685:0.0	.	.	.	.	X	84	.	ENSP00000221804:Q84X	Q	-	1	0	CLC	44916816	0.022000	0.18835	0.002000	0.10522	0.077000	0.17291	-0.872000	0.04219	-1.132000	0.02907	0.187000	0.17357	CAG	CLC	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.542	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLC	HGNC	protein_coding	OTTHUMT00000465225.1	G	NM_001828		40224976	-1	no_errors	ENST00000221804	ensembl	human	known	70_37	nonsense	SNP	0.013	A	A	40224976	G	A	40224976	4	1	97	1	0	0	0	0	0	1	0	0	3461	1299	45	1	186	1	CLC	19	40224976	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1128606	40224976	18904007	535	14259										
ZNF780B	163131	genome.wustl.edu	37	chr19	40554664	40554664	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggcactcccactcctcctGagagaagtcaatggccacat	8	15	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:40554664G>C	ENST00000434248.1	-	3	114	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	AC005614.5_ENST00000595508.1_RNA|ZNF780B_ENST00000598845.1_Missense_Mutation_p.Q17E|ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACTCCTCCTGAGAGAAGTCA	0.473																																																	0													132	125	127					19																	40554664		2203	4297	6500	SO:0001583	missense	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.49C>G	19.37:g.40554664G>C	ENSP00000391641:p.Gln17Glu		B9EH00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q17E	ENST00000434248.1	37	c.49	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181157	0.21787	.	.	ENSG00000128000	ENST00000434248	T	0.02032	4.49	2.32	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.03053	0.0090	M	0.74389	2.26	0.54753	D	0.999988	B	0.30634	0.288	B	0.26614	0.071	T	0.41822	-0.9487	9	0.36615	T	0.2	.	5.4832	0.16735	0.0:0.0:0.6721:0.3279	.	17	Q9Y6R6	Z780B_HUMAN	E	17	ENSP00000391641:Q17E	ENSP00000391641:Q17E	Q	-	1	0	ZNF780B	45246504	0.006000	0.16342	0.789000	0.31954	0.894000	0.52154	-0.009000	0.12765	0.991000	0.38814	0.306000	0.20318	CAG	ZNF780B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.473	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	G	NM_001005851		40554664	-1	no_errors	ENST00000434248	ensembl	human	known	70_37	missense	SNP	0.834	C	C	40554664	G	C	40554664	3	2	97	1	0	0	0	0	1	0	0	0	18183	1299	45	1	2464	1	ZNF780B	19	40554664	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	329688	40554664	18574319	536	14260										
POU2F2	5452	genome.wustl.edu	37	chr19	42600013	42600013	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagctcaggttgagggcctcGaagcgggaaatggtcgtctg	16	8	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:42600013G>A	ENST00000526816.2	-	9	747	c.732C>T	c.(730-732)ttC>ttT	p.F244F	POU2F2_ENST00000529952.1_Silent_p.F244F|POU2F2_ENST00000342301.4_Silent_p.F244F|POU2F2_ENST00000533720.1_Silent_p.F228F|POU2F2_ENST00000389341.5_Silent_p.F228F|POU2F2_ENST00000560398.1_Silent_p.F250F|POU2F2_ENST00000560558.1_Silent_p.F189F|POU2F2_ENST00000529067.1_Silent_p.F228F			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	244	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGAGGGCCTCGAAGCGGGAAA	0.622																																																	0													123	119	121					19																	42600013		2203	4300	6503	SO:0001819	synonymous_variant	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.732C>T	19.37:g.42600013G>A			Q16648|Q7M4M8|Q9BRS4	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.F244	ENST00000526816.2	37	c.732	CCDS56095.1	19																																																																																			POU2F2	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU		0.622	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	G			42600013	-1	no_errors	ENST00000342301	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42600013	G	A	42600013	2	1	97	1	0	0	0	0	0	0	0	1	12296	1049	37	1		1	POU2F2	19	42600013	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2045349	42600013	16528970	537	14261										
ERF	2077	genome.wustl.edu	37	chr19	42752793	42752793	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acccccttcgaggcgacagtCttcactccagcgccgcttaa	8	17	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:42752793C>T	ENST00000222329.4	-	4	1628	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	ERF_ENST00000440177.2_Missense_Mutation_p.D416N|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	491					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGGCGACAGTCTTCACTCCAG	0.701																																																	0													33	40	37					19																	42752793		2201	4297	6498	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1471G>A	19.37:g.42752793C>T	ENSP00000222329:p.Asp491Asn		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.D491N	ENST00000222329.4	37	c.1471	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642214	0.87859	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39592	2.04;1.07	4.12	4.12	0.48240	.	0.000000	0.34777	U	0.003693	T	0.52403	0.1732	L	0.55990	1.75	0.58432	D	0.999999	D	0.55385	0.971	P	0.54238	0.746	T	0.58978	-0.7540	10	0.87932	D	0	.	15.672	0.77286	0.0:1.0:0.0:0.0	.	491	P50548	ERF_HUMAN	N	491;416	ENSP00000222329:D491N;ENSP00000388173:D416N	ENSP00000222329:D491N	D	-	1	0	ERF	47444633	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.939000	0.63526	2.297000	0.77311	0.561000	0.74099	GAC	ERF	-	NULL		0.701	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42752793	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42752793	C	T	42752793	3	4	97	1	0	0	0	0	1	0	0	0	5233	913	32	1	179	1	ERF	19	42752793	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	152780	42752793	16376190	538	14262										
CADM4	199731	genome.wustl.edu	37	chr19	44129384	44129384	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaagactcattcccgcggttCcagcggatctggtttggcct	11	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:44129384C>T	ENST00000222374.2	-	7	822	c.774G>A	c.(772-774)tgG>tgA	p.W258*	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	258	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TCCCGCGGTTCCAGCGGATCT	0.577																																																	0													39	41	41					19																	44129384		2203	4300	6503	SO:0001587	stop_gained	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.774G>A	19.37:g.44129384C>T	ENSP00000222374:p.Trp258*		B2R7L5|Q9Y4A4	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.W258*	ENST00000222374.2	37	c.774	CCDS12627.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.130746	0.97310	.	.	ENSG00000105767	ENST00000222374	.	.	.	5.38	5.38	0.77491	.	0.078048	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6896	0.85318	0.0:1.0:0.0:0.0	.	.	.	.	X	258	.	ENSP00000222374:W258X	W	-	3	0	CADM4	48821224	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.421000	0.52742	2.549000	0.85964	0.650000	0.86243	TGG	CADM4	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.577	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	C	NM_145296		44129384	-1	no_errors	ENST00000222374	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	44129384	C	T	44129384	4	4	97	1	0	0	0	0	0	1	0	0	2574	856	30	1	404	1	CADM4	19	44129384	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1376591	44129384	14999599	539	14263										
CKM	1158	genome.wustl.edu	37	chr19	45822923	45822923	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gaggtcggggtactcctcctCaggcttgtaattcagcttga	12	10	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:45822923C>G	ENST00000221476.3	-	2	223	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	17	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TACTCCTCCTCAGGCTTGTAA	0.527																																																	0													284	239	254					19																	45822923		2203	4300	6503	SO:0001583	missense	1158			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.49G>C	19.37:g.45822923C>G	ENSP00000221476:p.Glu17Gln		Q96QL9	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.E17Q	ENST00000221476.3	37	c.49	CCDS12659.1	19	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649648	0.47362	.	.	ENSG00000104879	ENST00000221476	T	0.63255	-0.03	4.69	3.62	0.41486	ATP:guanido phosphotransferase, N-terminal (3);	0.112777	0.64402	N	0.000017	T	0.66307	0.2776	M	0.86343	2.81	0.53005	D	0.999965	P	0.35174	0.488	B	0.35312	0.2	T	0.70135	-0.4955	10	0.52906	T	0.07	-38.4628	12.4689	0.55775	0.0:0.8223:0.1777:0.0	.	17	P06732	KCRM_HUMAN	Q	17	ENSP00000221476:E17Q	ENSP00000221476:E17Q	E	-	1	0	CKM	50514763	0.998000	0.40836	0.670000	0.29842	0.602000	0.36980	3.769000	0.55303	1.062000	0.40625	0.655000	0.94253	GAG	CKM	-	superfamily_ATP-guanido_PTrfase_N		0.527	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKM	HGNC	protein_coding	OTTHUMT00000457569.1	C			45822923	-1	no_errors	ENST00000221476	ensembl	human	known	70_37	missense	SNP	0.993	G	G	45822923	C	G	45822923	3	3	97	1	0	0	0	0	1	0	0	0	3453	835	29	1	1124	1	CKM	19	45822923	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1693539	45822923	13306060	540	14264										
LIG1	3978	genome.wustl.edu	37	chr19	48619186	48619186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcacggactcgaataaaccGagggaagcgaagggagatgc	14	8	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:48619186G>A	ENST00000263274.7	-	27	3039	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.R806W|CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.R843W	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	874					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.R874W(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGAATAAACCGAGGGAAGCGA	0.652								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	lung(1)											46	42	43					19																	48619186		2203	4300	6503	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2620C>T	19.37:g.48619186G>A	ENSP00000263274:p.Arg874Trp		B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.R874W	ENST00000263274.7	37	c.2620	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442739	0.83993	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.70164	-0.46;-0.46;-0.46	4.9	3.84	0.44239	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.061233	0.64402	D	0.000002	D	0.88691	0.6505	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91991	0.5603	10	0.87932	D	0	-9.1696	12.5114	0.56007	0.0:0.0:0.8317:0.1683	.	843;806;874	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	W	874;843;806	ENSP00000263274:R874W;ENSP00000442841:R843W;ENSP00000441531:R806W	ENSP00000263274:R874W	R	-	1	2	LIG1	53310998	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.336000	0.72954	1.163000	0.42636	0.655000	0.94253	CGG	LIG1	-	pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep		0.652	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	G	NM_000234		48619186	-1	no_errors	ENST00000263274	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48619186	G	A	48619186	3	1	97	1	0	0	0	0	1	0	0	0	8801	1057	37	1	147	1	LIG1	19	48619186	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2796263	48619186	10509797	541	14265										
GRIN2D	2906	genome.wustl.edu	37	chr19	48908309	48908309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccgtgttccgcgcagctgagGaggctggcctcactggatct	14	13	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:48908309G>A	ENST00000263269.3	+	3	872	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	262					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCAGCTGAGGAGGCTGGCCT	0.706																																																	0													10	11	11					19																	48908309		2186	4275	6461	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.784G>A	19.37:g.48908309G>A	ENSP00000263269:p.Glu262Lys			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E262K	ENST00000263269.3	37	c.784	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479832	0.84747	.	.	ENSG00000105464	ENST00000263269	T	0.75260	-0.92	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.281878	0.31102	N	0.008242	T	0.74966	0.3786	L	0.42245	1.32	0.44995	D	0.998017	P	0.47484	0.896	P	0.48952	0.596	T	0.75800	-0.3190	10	0.44086	T	0.13	.	17.3107	0.87208	0.0:0.0:1.0:0.0	.	262	O15399	NMDE4_HUMAN	K	262	ENSP00000263269:E262K	ENSP00000263269:E262K	E	+	1	0	GRIN2D	53600121	0.980000	0.34600	0.995000	0.50966	0.976000	0.68499	3.899000	0.56288	2.457000	0.83068	0.561000	0.74099	GAG	GRIN2D	-	pfam_ANF_lig-bd_rcpt		0.706	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	G			48908309	1	no_errors	ENST00000263269	ensembl	human	known	70_37	missense	SNP	0.992	A	A	48908309	G	A	48908309	3	1	97	1	0	0	0	0	1	0	0	0	6802	1175	41	1	790	1	GRIN2D	19	48908309	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	289123	48908309	10220674	542	14266										
SULT2B1	6820	genome.wustl.edu	37	chr19	49090586	49090586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagcgggcaccctggtgtgaGaccattgtgggtgccttcag	16	10	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:49090586G>C	ENST00000201586.2	+	3	493	c.315G>C	c.(313-315)gaG>gaC	p.E105D	SULT2B1_ENST00000323090.4_Missense_Mutation_p.E90D	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	105					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCTGGTGTGAGACCATTGTGG	0.592																																																	0													90	74	79					19																	49090586		2203	4300	6503	SO:0001583	missense	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.315G>C	19.37:g.49090586G>C	ENSP00000201586:p.Glu105Asp		O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E105D	ENST00000201586.2	37	c.315	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983256	0.35036	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02067	4.47;4.47	4.98	2.76	0.32466	Sulfotransferase domain (1);	0.000000	0.48286	D	0.000188	T	0.10121	0.0248	M	0.82517	2.595	0.31756	N	0.633941	P;D	0.56746	0.718;0.977	B;D	0.66979	0.316;0.948	T	0.02037	-1.1225	10	0.66056	D	0.02	.	6.9701	0.24644	0.3031:0.0:0.6969:0.0	.	90;105	O00204-2;O00204	.;ST2B1_HUMAN	D	105;90	ENSP00000201586:E105D;ENSP00000312880:E90D	ENSP00000201586:E105D	E	+	3	2	SULT2B1	53782398	1.000000	0.71417	0.181000	0.23098	0.006000	0.05464	2.634000	0.46528	0.559000	0.29153	0.579000	0.79373	GAG	SULT2B1	-	pfam_Sulfotransferase_dom		0.592	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	G	NM_004605		49090586	1	no_errors	ENST00000201586	ensembl	human	known	70_37	missense	SNP	0.731	C	C	49090586	G	C	49090586	3	2	97	1	0	0	0	0	1	0	0	0	15412	933	33	1	351	1	SULT2B1	19	49090586	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	182277	49090586	10038397	543	14267										
SPHK2	56848	genome.wustl.edu	37	chr19	49133018	49133018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggcctcctggctgcccgggGcgggagccctgaaactaaac	15	14	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:49133018G>A	ENST00000245222.4	+	7	2319	c.1953G>A	c.(1951-1953)ggG>ggA	p.G651G	SPHK2_ENST00000598088.1_Silent_p.G651G|SPHK2_ENST00000443164.1_Intron|SPHK2_ENST00000600537.1_Silent_p.G592G|SPHK2_ENST00000599029.1_Intron|SPHK2_ENST00000340932.3_Silent_p.G613G|SPHK2_ENST00000599748.1_Silent_p.G615G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	651					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGCCCGGGGCGGGAGCCCT	0.657																																																	0													13	14	14					19																	49133018		2195	4285	6480	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1953G>A	19.37:g.49133018G>A			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G651	ENST00000245222.4	37	c.1953	CCDS12727.1	19																																																																																			SPHK2	-	NULL		0.657	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	G			49133018	1	no_errors	ENST00000245222	ensembl	human	known	70_37	silent	SNP	0.005	A	A	49133018	G	A	49133018	2	1	97	1	0	0	0	0	0	0	0	1	15077	1190	42	4		4	SPHK2	19	49133018	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	42432	49133018	9995965	544	14268										
LILRA6	79168	genome.wustl.edu	37	chr19	54745682	54745682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atcccttctgtgagccacatCggagggtcatattcccccct	8	15	2	1	rs111666280	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:54745682C>T	ENST00000396365.2	-	4	467	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	LILRA6_ENST00000391735.3_Missense_Mutation_p.R143Q|LILRA6_ENST00000419410.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000245621.5_Missense_Mutation_p.R143Q|LILRA6_ENST00000440558.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000270464.5_Missense_Mutation_p.R143Q|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	143					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGCCACATCGGAGGGTCAT	0.567																																																	0													29	50	43					19																	54745682		2122	4289	6411	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.428G>A	19.37:g.54745682C>T	ENSP00000379651:p.Arg143Gln			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R143Q	ENST00000396365.2	37	c.428	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	C	0.554	-0.848058	0.02651	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;4.09;2.65;2.65	3.38	-6.77	0.01727	Immunoglobulin-like fold (1);	0.513077	0.18054	N	0.153187	T	0.02047	0.0064	N	0.01640	-0.785	0.09310	N	1	B;B;B;B;B;B	0.33000	0.046;0.003;0.332;0.049;0.046;0.393	B;B;B;B;B;B	0.32342	0.008;0.002;0.144;0.015;0.015;0.014	T	0.37454	-0.9705	10	0.02654	T	1	.	0.493	0.00567	0.2783:0.2174:0.3072:0.1971	.	143;143;143;143;143;143	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	Q	143	ENSP00000390120:R143Q;ENSP00000270464:R143Q;ENSP00000411227:R143Q;ENSP00000375615:R143Q;ENSP00000379651:R143Q;ENSP00000245621:R143Q	ENSP00000245621:R143Q	R	-	2	0	LILRA6	59437494	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-1.554000	0.02172	-1.307000	0.02321	0.162000	0.16502	CGA	LILRA6	-	NULL		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	C	NM_024318		54745682	-1	no_errors	ENST00000270464	ensembl	human	known	70_37	missense	SNP	0.001	T	T	54745682	C	T	54745682	3	4	97	1	0	0	0	0	1	0	0	0	8809	884	31	1	1037	1	LILRA6	19	54745682	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5612664	54745682	4383301	545	14269										
LILRA2	11027	genome.wustl.edu	37	chr19	55086305	55086305	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggcatttgacggcttcattCtgtgtaaggaaggagaagat	13	5	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55086305C>T	ENST00000251377.3	+	5	593	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.L154L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L142L|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L154L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	154	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGGCTTCATTCTGTGTAAGGA	0.597																																																	0													175	161	166					19																	55086305		2203	4300	6503	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.460C>T	19.37:g.55086305C>T			O75020	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.L154	ENST00000251377.3	37	c.460	CCDS46179.1	19																																																																																			LILRA2	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.597	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	C			55086305	1	no_errors	ENST00000251377	ensembl	human	known	70_37	silent	SNP	0.001	T	T	55086305	C	T	55086305	2	4	97	1	0	0	0	0	0	0	0	1	8805	912	32	1		1	LILRA2	19	55086305	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	340623	55086305	4042678	546	14270										
KIR3DL2	3812	genome.wustl.edu	37	chr19	55378121	55378121	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acacggaacttccaaatgctGagcccagatccaaagttgtc	8	12	0	2	rs141407209		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55378121G>A	ENST00000326321.3	+	9	1336	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E435K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E418K|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	435					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCCAAATGCTGAGCCCAGATC	0.522																																																	0								G	LYS/GLU	0,4406		0,0,2203	276	271	273		1303	-1.5	0	19	dbSNP_134	273	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIR3DL2	NM_006737.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	435/456	55378121	2,13004	2203	4300	6503	SO:0001583	missense	3812			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1303G>A	19.37:g.55378121G>A	ENSP00000325525:p.Glu435Lys		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E435K	ENST00000326321.3	37	c.1303	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	G	7.661	0.685020	0.14973	0.0	2.33E-4	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00477	7.31;7.28;7.14	1.54	-1.54	0.08584	.	.	.	.	.	T	0.00695	0.0023	L	0.52364	1.645	0.09310	N	1	B;B;D	0.63880	0.019;0.004;0.993	B;B;D	0.77557	0.02;0.008;0.99	T	0.52480	-0.8570	9	0.42905	T	0.14	.	2.1522	0.03803	0.4212:0.3286:0.2503:0.0	.	418;435;435	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	K	435;435;418	ENSP00000384528:E435K;ENSP00000325525:E435K;ENSP00000270442:E418K	ENSP00000384528:E435K	E	+	1	0	KIR3DL1;KIR3DL2	60069933	0.000000	0.05858	0.013000	0.15412	0.019000	0.09904	-1.728000	0.01858	-0.063000	0.13065	-0.451000	0.05528	GAG	KIR3DL2	-	NULL		0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	HGNC	protein_coding	OTTHUMT00000141241.1	G			55378121	1	no_errors	ENST00000326321	ensembl	human	known	70_37	missense	SNP	0.013	A	A	55378121	G	A	55378121	3	1	97	1	0	0	0	0	1	0	0	0	8341	1291	45	1	1337	1	KIR3DL2	19	55378121	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	291816	55378121	3750862	547	14271										
EPS8L1	54869	genome.wustl.edu	37	chr19	55593878	55593878	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agtgtgcggcggccgcatctGacatcggatgccgtggcgct	16	12	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55593878G>A	ENST00000201647.6	+	12	1178	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	EPS8L1_ENST00000588359.1_Silent_p.L28L|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Silent_p.L247L|EPS8L1_ENST00000540810.1_Silent_p.L310L|EPS8L1_ENST00000586329.1_Silent_p.L356L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	374					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCGCATCTGACATCGGATG	0.682																																					Ovarian(149;255 1863 3636 27051 29647)												0													16	15	15					19																	55593878		2141	4206	6347	SO:0001819	synonymous_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1122G>A	19.37:g.55593878G>A			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.L374	ENST00000201647.6	37	c.1122	CCDS12914.1	19																																																																																			EPS8L1	-	NULL		0.682	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	G	NM_017729		55593878	1	no_errors	ENST00000201647	ensembl	human	known	70_37	silent	SNP	0.998	A	A	55593878	G	A	55593878	2	1	97	1	0	0	0	0	0	0	0	1	5207	1277	45	1		1	EPS8L1	19	55593878	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	215757	55593878	3535105	548	14272										
C19orf51	352909	genome.wustl.edu	37	chr19	55677347	55677347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgtgcactgtatcggcctggGagtctgggtccacaggagga	16	9	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55677347G>A	ENST00000524407.2	-	3	140	c.107C>T	c.(106-108)tCc>tTc	p.S36F	DNAAF3_ENST00000455045.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000527223.2_Missense_Mutation_p.S104F|snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.S83F			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	36					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											ATCGGCCTGGGAGTCTGGGTC	0.602											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													48	57	54					19																	55677347		2080	4221	6301	SO:0001583	missense	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.107C>T	19.37:g.55677347G>A	ENSP00000432046:p.Ser36Phe	1009	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	NULL	p.S104F	ENST00000524407.2	37	c.311	CCDS59422.1	19	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445931	0.43429	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.19669	2.13	3.89	-1.15	0.09709	.	1.297460	0.05419	N	0.543914	T	0.25269	0.0614	L	0.48642	1.525	0.09310	N	0.999999	P;B;P	0.51351	0.944;0.009;0.662	P;B;B	0.51135	0.66;0.005;0.246	T	0.20907	-1.0261	10	0.59425	D	0.04	-0.4859	3.5332	0.07785	0.3213:0.0:0.5054:0.1733	.	104;57;36	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	F	104;83;104	ENSP00000375600:S83F	ENSP00000301249:S104F	S	-	2	0	C19orf51	60369159	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.231000	0.17872	-0.198000	0.10333	0.561000	0.74099	TCC	DNAAF3	-	NULL		0.602	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	G	NM_178837		55677347	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55677347	G	A	55677347	3	1	97	1	0	0	0	0	1	0	0	0	1938	1174	41	1	1558	1	C19orf51	19	55677347	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	83469	55677347	3451636	549	14273										
ZNF470	388566	genome.wustl.edu	37	chr19	57088790	57088790	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcacaccttgctcaacatcaGagggtccacactggagagaa	10	12	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:57088790G>A	ENST00000330619.8	+	6	1679	c.993G>A	c.(991-993)caG>caA	p.Q331Q	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.Q331Q	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTCAACATCAGAGGGTCCACA	0.443																																																	0													69	66	67					19																	57088790		2203	4300	6503	SO:0001819	synonymous_variant	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.993G>A	19.37:g.57088790G>A			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q331	ENST00000330619.8	37	c.993	CCDS33122.1	19																																																																																			ZNF470	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	G	NM_001001668		57088790	1	no_errors	ENST00000330619	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57088790	G	A	57088790	2	1	97	1	0	0	0	0	0	0	0	1	17959	933	33	1		1	ZNF470	19	57088790	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1411443	57088790	2040193	550	14274										
TRIM28	10155	genome.wustl.edu	37	chr19	59056853	59056853	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacatcgtggagaattatttCatgcgtgatagtggcagcaa	12	6	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:59056853C>A	ENST00000253024.5	+	2	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	TRIM28_ENST00000341753.6_Intron|RN7SL525P_ENST00000579267.1_RNA	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	134	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552																																																	0													91	98	96					19																	59056853		2203	4299	6502	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.402C>A	19.37:g.59056853C>A	ENSP00000253024:p.Phe134Leu		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.F134L	ENST00000253024.5	37	c.402	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158697	0.78226	.	.	ENSG00000130726	ENST00000253024	T	0.66099	-0.19	4.36	-4.31	0.03698	.	0.000000	0.51477	D	0.000086	T	0.57519	0.2059	N	0.20986	0.625	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.60845	-0.7182	10	0.87932	D	0	-13.804	13.3061	0.60352	0.0:0.7558:0.0:0.2442	.	134	Q13263	TIF1B_HUMAN	L	134	ENSP00000253024:F134L	ENSP00000253024:F134L	F	+	3	2	TRIM28	63748665	0.025000	0.19082	0.608000	0.28969	0.945000	0.59286	-1.557000	0.02166	-0.800000	0.04433	-0.389000	0.06534	TTC	TRIM28	-	NULL		0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	C	NM_005762		59056853	1	no_errors	ENST00000253024	ensembl	human	known	70_37	missense	SNP	0.974	A	A	59056853	C	A	59056853	3	1	97	1	0	0	0	0	1	0	0	0	16533	825	29	3	408	3	TRIM28	19	59056853	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1968063	59056853	72130	551	14275										
TRIB3	57761	genome.wustl.edu	37	chr20	377073	377073	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctgtcctgctcttcggcaaGatccgccgcggggcctacgc	12	17	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:377073G>C	ENST00000217233.3	+	4	1369	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TRIB3_ENST00000422053.2_Missense_Mutation_p.K299N	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TCTTCGGCAAGATCCGCCGCG	0.687																																					Melanoma(101;421 2374 19538)												0													53	52	52					20																	377073		2203	4300	6503	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.816G>C	20.37:g.377073G>C	ENSP00000217233:p.Lys272Asn		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	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,pfscan_Prot_kinase_cat_dom	p.K299N	ENST00000217233.3	37	c.897	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081492	0.76528	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.66460	-0.21;-0.21	5.23	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000082	T	0.80314	0.4600	M	0.78801	2.425	0.46725	D	0.999175	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82396	-0.0478	10	0.87932	D	0	-39.7954	11.2605	0.49080	0.0871:0.0:0.9129:0.0	.	299;272	B4DMM9;Q96RU7	.;TRIB3_HUMAN	N	272;299	ENSP00000217233:K272N;ENSP00000415416:K299N	ENSP00000217233:K272N	K	+	3	2	TRIB3	325073	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.857000	0.39399	1.437000	0.47472	0.655000	0.94253	AAG	TRIB3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	G	NM_021158		377073	1	no_errors	ENST00000422053	ensembl	human	known	70_37	missense	SNP	1.000	C	C	377073	G	C	377073	3	2	97	1	0	0	0	0	1	0	0	0	16515	933	33	1	826	1	TRIB3	20	377073	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		377073	62648447	552	14276										
SIGLEC1	6614	genome.wustl.edu	37	chr20	3677876	3677876	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggcccacagcaccccatttcGgaaccaggagaagttagcag	11	13	0	1	rs200143991		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:3677876G>A	ENST00000344754.4	-	9	2235	c.2236C>T	c.(2236-2238)Cga>Tga	p.R746*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.R746*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	746	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R746*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCCCATTTCGGAACCAGGAG	0.602																																																	1	Substitution - Nonsense(1)	endometrium(1)						G	stop/ARG	0,4406		0,0,2203	84	83	83		2236	5.3	1	20		83	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	SIGLEC1	NM_023068.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		746/1710	3677876	2,13004	2203	4300	6503	SO:0001587	stop_gained	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2236C>T	20.37:g.3677876G>A	ENSP00000341141:p.Arg746*		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R746*	ENST00000344754.4	37	c.2236	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	40	7.968970	0.98588	0.0	2.33E-4	ENSG00000088827	ENST00000344754;ENST00000202578	.	.	.	5.31	5.31	0.75309	.	0.204155	0.24759	N	0.035825	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.3373	0.66600	0.0:0.0:1.0:0.0	.	.	.	.	X	746	.	ENSP00000202578:R746X	R	-	1	2	SIGLEC1	3625876	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	3.391000	0.52530	2.759000	0.94783	0.561000	0.74099	CGA	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	G	NM_023068		3677876	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3677876	G	A	3677876	4	1	97	1	0	0	0	0	0	1	0	0	14335	1124	39	2	2945	2	SIGLEC1	20	3677876	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3300803	3677876	59347644	553	14277										
PAK7	57144	genome.wustl.edu	37	chr20	9561029	9561029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccccattcactttcactgtaCgccaggctctccttggagca	7	16	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:9561029C>T	ENST00000378429.3	-	5	1299	c.753G>A	c.(751-753)gcG>gcA	p.A251A	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Silent_p.A251A|PAK7_ENST00000353224.5_Silent_p.A251A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	251	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCACTGTACGCCAGGCTCT	0.542																																																	0													83	79	80					20																	9561029		2203	4300	6503	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.753G>A	20.37:g.9561029C>T			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.A251	ENST00000378429.3	37	c.753	CCDS13107.1	20																																																																																			PAK7	-	NULL		0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	C			9561029	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	silent	SNP	0.003	T	T	9561029	C	T	9561029	2	4	97	1	0	0	0	0	0	0	0	1	11429	523	19	2		2	PAK7	20	9561029	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5883153	9561029	53464491	554	14278										
C20orf94	128710	genome.wustl.edu	37	chr20	10603872	10603872	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caaaaaccacgtctaaggaaGagttgcatgttttggaaagt	10	6	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:10603872G>A	ENST00000334534.5	+	8	1252	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	358																	GTCTAAGGAAGAGTTGCATGT	0.433																																																	0													58	65	63					20																	10603872		2203	4300	6503	SO:0001583	missense	128710			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1072G>A	20.37:g.10603872G>A	ENSP00000335557:p.Glu358Lys		Q05CG2|Q05CT9	Missense_Mutation	SNP	NULL	p.E358K	ENST00000334534.5	37	c.1072	CCDS33439.1	20	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047546	0.55110	.	.	ENSG00000149346	ENST00000334534	T	0.52754	0.65	5.57	5.57	0.84162	.	0.075783	0.50627	D	0.000115	T	0.48642	0.1511	L	0.56769	1.78	0.37047	D	0.897429	P	0.46277	0.875	P	0.44394	0.448	T	0.56329	-0.7997	10	0.44086	T	0.13	-10.8728	13.4021	0.60889	0.0746:0.0:0.9254:0.0	.	358	Q5VYV7	CT094_HUMAN	K	358	ENSP00000335557:E358K	ENSP00000335557:E358K	E	+	1	0	C20orf94	10551872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.163000	0.50763	2.788000	0.95919	0.650000	0.86243	GAG	SLX4IP	-	NULL		0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	G	NM_001009608		10603872	1	no_errors	ENST00000334534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10603872	G	A	10603872	3	1	97	1	0	0	0	0	1	0	0	0	2126	943	33	1	1098	1	C20orf94	20	10603872	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1042843	10603872	52421648	555	14279										
C20orf94	128710	genome.wustl.edu	37	chr20	10603903	10603903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttggaaagtctctcctccaGacatcttatgaaaaataacc	5	10	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:10603903G>A	ENST00000334534.5	+	8	1283	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	368																	CTCTCCTCCAGACATCTTATG	0.428																																																	0													53	59	57					20																	10603903		2203	4300	6503	SO:0001583	missense	128710			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1103G>A	20.37:g.10603903G>A	ENSP00000335557:p.Arg368Lys		Q05CG2|Q05CT9	Missense_Mutation	SNP	NULL	p.R368K	ENST00000334534.5	37	c.1103	CCDS33439.1	20	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714544	0.48622	.	.	ENSG00000149346	ENST00000334534	T	0.58652	0.32	5.33	2.27	0.28462	.	0.267612	0.34460	N	0.003954	T	0.44052	0.1275	L	0.40543	1.245	0.23909	N	0.996499	B	0.15141	0.012	B	0.16289	0.015	T	0.30909	-0.9962	10	0.38643	T	0.18	-1.0154	8.0779	0.30726	0.0722:0.0:0.6449:0.2829	.	368	Q5VYV7	CT094_HUMAN	K	368	ENSP00000335557:R368K	ENSP00000335557:R368K	R	+	2	0	C20orf94	10551903	0.992000	0.36948	0.995000	0.50966	0.978000	0.69477	0.479000	0.22228	0.318000	0.23185	0.650000	0.86243	AGA	SLX4IP	-	NULL		0.428	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	G	NM_001009608		10603903	1	no_errors	ENST00000334534	ensembl	human	known	70_37	missense	SNP	0.992	A	A	10603903	G	A	10603903	3	1	97	1	0	0	0	0	1	0	0	0	2126	942	33	1	1129	1	C20orf94	20	10603903	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	31	10603903	52421617	556	14280										
RRBP1	6238	genome.wustl.edu	37	chr20	17596576	17596576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggcagggcctgacctcctCaaactcggccgtgagcttct	11	15	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:17596576C>G	ENST00000377813.1	-	22	4249	c.3946G>C	c.(3946-3948)Gag>Cag	p.E1316Q	RRBP1_ENST00000360807.4_Missense_Mutation_p.E883Q|RRBP1_ENST00000455029.2_Missense_Mutation_p.E657Q|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Missense_Mutation_p.E883Q|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1316Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1316					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTGACCTCCTCAAACTCGGCC	0.632																																																	0													70	55	60					20																	17596576		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3946G>C	20.37:g.17596576C>G	ENSP00000367044:p.Glu1316Gln		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.E1316Q	ENST00000377813.1	37	c.3946		20	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780082	0.31502	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.17	3.2	0.36748	.	0.481208	0.15442	N	0.262129	T	0.25382	0.0617	N	0.20685	0.6	0.36501	D	0.869014	B;B	0.22276	0.003;0.067	B;B	0.17979	0.009;0.02	T	0.10847	-1.0612	10	0.42905	T	0.14	-28.2002	13.4457	0.61140	0.0:0.7178:0.2822:0.0	.	883;1316	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	Q	883;1316;883;1316;657	ENSP00000354045:E883Q;ENSP00000367044:E1316Q;ENSP00000367038:E883Q;ENSP00000246043:E1316Q;ENSP00000401206:E657Q	ENSP00000246043:E1316Q	E	-	1	0	RRBP1	17544576	0.956000	0.32656	0.997000	0.53966	0.909000	0.53808	1.485000	0.35519	0.566000	0.29273	0.556000	0.70494	GAG	RRBP1	-	NULL		0.632	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	C	NM_001042576		17596576	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	0.998	G	G	17596576	C	G	17596576	3	3	97	1	0	0	0	0	1	0	0	0	13708	835	29	1	302	1	RRBP1	20	17596576	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6992673	17596576	45428944	557	14281										
C20orf3	57136	genome.wustl.edu	37	chr20	24959457	24959457	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttgattttcaaacagcctttCtgcctgtcgcagcttcgtat	7	11	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:24959457C>T	ENST00000217456.2	-	3	564	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	APMAP_ENST00000447138.1_Missense_Mutation_p.E92K	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	92					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										AACAGCCTTTCTGCCTGTCGC	0.478																																																	0													79	80	80					20																	24959457		2203	4300	6503	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.274G>A	20.37:g.24959457C>T	ENSP00000217456:p.Glu92Lys		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.E92K	ENST00000217456.2	37	c.274	CCDS13166.1	20	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588371	0.46110	.	.	ENSG00000101474	ENST00000217456;ENST00000447138	T;T	0.32023	1.47;1.47	5.08	2.05	0.26809	Six-bladed beta-propeller, TolB-like (1);	0.199280	0.52532	N	0.000062	T	0.22322	0.0538	L	0.41415	1.275	0.49130	D	0.999756	B;B;B	0.19935	0.04;0.002;0.013	B;B;B	0.21546	0.035;0.003;0.016	T	0.05194	-1.0900	10	0.36615	T	0.2	-15.148	7.6319	0.28245	0.0:0.68:0.0:0.32	.	92;76;92	Q9HDC9-2;A2A2F9;Q9HDC9	.;.;APMAP_HUMAN	K	92	ENSP00000217456:E92K;ENSP00000415373:E92K	ENSP00000217456:E92K	E	-	1	0	C20orf3	24907457	0.938000	0.31826	0.982000	0.44146	0.910000	0.53928	1.607000	0.36836	0.732000	0.32470	0.561000	0.74099	GAA	APMAP	-	NULL		0.478	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	HGNC	protein_coding	OTTHUMT00000078380.2	C	NM_020531		24959457	-1	no_errors	ENST00000217456	ensembl	human	known	70_37	missense	SNP	0.850	T	T	24959457	C	T	24959457	3	4	97	1	0	0	0	0	1	0	0	0	2114	922	32	1	1004	1	C20orf3	20	24959457	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7362881	24959457	38066063	558	14282										
C20orf160	140706	genome.wustl.edu	37	chr20	30605646	30605646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacttcctcactgaacccctCcagtcgggacgagctcctgc	9	17	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:30605646C>T	ENST00000300415.8	+	3	255	c.242C>T	c.(241-243)tCc>tTc	p.S81F	CCM2L_ENST00000262659.8_Missense_Mutation_p.S81F			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	81																	CTGAACCCCTCCAGTCGGGAC	0.597																																																	0													149	145	147					20																	30605646		2203	4300	6503	SO:0001583	missense	140706			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.242C>T	20.37:g.30605646C>T	ENSP00000300415:p.Ser81Phe		Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	NULL	p.S81F	ENST00000300415.8	37	c.242		20	.	.	.	.	.	.	.	.	.	.	C	32	5.175318	0.94807	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.56275	0.47;0.47	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.79258	2.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77832	-0.2441	10	0.87932	D	0	-37.7335	16.5295	0.84354	0.0:1.0:0.0:0.0	.	81	Q9NUG4-2	.	F	81	ENSP00000300415:S81F;ENSP00000262659:S81F	ENSP00000262659:S81F	S	+	2	0	C20orf160	30069307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.933000	0.75874	2.429000	0.82318	0.462000	0.41574	TCC	CCM2L	-	NULL		0.597	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCM2L	HGNC	protein_coding		C	NM_080625		30605646	1	no_errors	ENST00000300415	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30605646	C	T	30605646	3	4	97	1	0	0	0	0	1	0	0	0	2098	855	30	1	252	1	C20orf160	20	30605646	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5646189	30605646	32419874	559	14283										
C20orf186	149954	genome.wustl.edu	37	chr20	31680335	31680335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccagctgtgtctcccaagccGatgccagagctgcctcccat	9	17	1	1	rs200333820		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:31680335G>A	ENST00000375483.3	+	9	1215	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	405						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTCCCAAGCCGATGCCAGAGC	0.597																																																	0													74	66	69					20																	31680335		2203	4300	6503	SO:0001819	synonymous_variant	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1215G>A	20.37:g.31680335G>A			Q5TDX6	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P405	ENST00000375483.3	37	c.1215	CCDS13213.2	20																																																																																			BPIFB4	-	superfamily_Bactericidal_perm-incr_a/b_dom		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	G	NM_182519		31680335	1	no_errors	ENST00000375483	ensembl	human	known	70_37	silent	SNP	0.790	A	A	31680335	G	A	31680335	2	1	97	1	0	0	0	0	0	0	0	1	2103	1045	37	1		1	C20orf186	20	31680335	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1074689	31680335	31345185	560	14284										
RALY	22913	genome.wustl.edu	37	chr20	32661383	32661383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acacagacatcaacatggctGgagagcctaagcctgacaga	10	11	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:32661383G>A	ENST00000246194.3	+	4	773	c.271G>A	c.(271-273)Gga>Aga	p.G91R	RALY_ENST00000375114.3_Missense_Mutation_p.G91R|RALY_ENST00000493399.1_3'UTR	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	91	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAACATGGCTGGAGAGCCTAA	0.527																																																	0													166	134	144					20																	32661383		2203	4300	6503	SO:0001583	missense	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.271G>A	20.37:g.32661383G>A	ENSP00000246194:p.Gly91Arg		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.G91R	ENST00000246194.3	37	c.271	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431611	0.83776	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000442805	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.55	4.59	0.56863	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.01535	-0.81	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.53129	-0.8482	10	0.39692	T	0.17	-9.8136	14.686	0.69049	0.0716:0.0:0.9284:0.0	.	91;91	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	R	91	ENSP00000364255:G91R;ENSP00000413638:G91R;ENSP00000246194:G91R;ENSP00000415973:G91R	ENSP00000246194:G91R	G	+	1	0	RALY	32125044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.894000	0.99253	0.591000	0.81541	GGA	RALY	-	pirsf_hnRNP_C_Raly,pfscan_RRM_dom		0.527	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	G			32661383	1	no_errors	ENST00000246194	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32661383	G	A	32661383	3	1	97	1	0	0	0	0	1	0	0	0	13049	1349	47	4	277	4	RALY	20	32661383	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	981048	32661383	30364137	561	14285										
GGT7	2686	genome.wustl.edu	37	chr20	33440300	33440300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtggggcaggggctgcctggGagtcattgatatggccccgg	19	9	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:33440300G>A	ENST00000336431.5	-	11	1405	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	454					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGCTGCCTGGGAGTCATTGAT	0.587																																																	0													44	47	46					20																	33440300		2203	4300	6503	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1361C>T	20.37:g.33440300G>A	ENSP00000338964:p.Ser454Phe		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.S454F	ENST00000336431.5	37	c.1361	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	G	31	5.089672	0.94149	.	.	ENSG00000131067	ENST00000336431	T	0.07327	3.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	T	0.00015	-1.2392	10	0.62326	D	0.03	-20.4982	20.8794	0.99867	0.0:0.0:1.0:0.0	.	454;454	A4FU32;Q9UJ14	.;GGT7_HUMAN	F	454	ENSP00000338964:S454F	ENSP00000338964:S454F	S	-	2	0	GGT7	32903961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.754000	0.91642	2.941000	0.99782	0.655000	0.94253	TCC	GGT7	-	pfam_GGT_peptidase		0.587	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	G	NM_178026		33440300	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	33440300	G	A	33440300	3	1	97	1	0	0	0	0	1	0	0	0	6383	1174	41	1	647	1	GGT7	20	33440300	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	778917	33440300	29585220	562	14286										
KIAA0406	9675	genome.wustl.edu	37	chr20	36641799	36641799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atggagggctcataaaaagtCagaatgatgtccccataagc	10	8	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:36641799C>T	ENST00000373448.2	-	3	658	c.420G>A	c.(418-420)ctG>ctA	p.L140L	TTI1_ENST00000373447.3_Silent_p.L140L|TTI1_ENST00000449821.1_Silent_p.L140L|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	140					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CATAAAAAGTCAGAATGATGT	0.448																																																	0													86	86	86					20																	36641799		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.420G>A	20.37:g.36641799C>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.L140	ENST00000373448.2	37	c.420	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36641799	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	silent	SNP	0.275	T	T	36641799	C	T	36641799	2	4	97	1	0	0	0	0	0	0	0	1	8193	813	29	1		1	KIAA0406	20	36641799	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3201499	36641799	26383721	563	14287										
TGM2	7052	genome.wustl.edu	37	chr20	36766609	36766609	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acggtgcgggcacagagcagGaggcggcagacgtactcctc	16	12	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:36766609G>C	ENST00000361475.2	-	10	1694	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	TGM2_ENST00000536724.1_Silent_p.L447L|TGM2_ENST00000536701.1_Silent_p.L426L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	507					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACAGAGCAGGAGGCGGCAGA	0.582																																																	0													102	74	83					20																	36766609		2203	4300	6503	SO:0001819	synonymous_variant	7052			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1521C>G	20.37:g.36766609G>C			E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L507	ENST00000361475.2	37	c.1521	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	G	NM_198951		36766609	-1	no_errors	ENST00000361475	ensembl	human	known	70_37	silent	SNP	0.972	C	C	36766609	G	C	36766609	2	2	97	1	0	0	0	0	0	0	0	1	15860	1161	41	1		1	TGM2	20	36766609	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	124810	36766609	26258911	564	14288										
PTPRT	11122	genome.wustl.edu	37	chr20	40713386	40713386	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctgccacttctccagtcgtcGgaccactttgagcagagagc	10	14	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:40713386G>A	ENST00000373187.1	-	29	4071	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R1348*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R1377*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R1367*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R1361*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R1357*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R1368*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1358	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R1380*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCAGTCGTCGGACCACTTTG	0.597																																																	1	Substitution - Nonsense(1)	lung(1)											53	60	57					20																	40713386		2034	4171	6205	SO:0001587	stop_gained	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4072C>T	20.37:g.40713386G>A	ENSP00000362283:p.Arg1358*		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1380*	ENST00000373187.1	37	c.4138	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	44	10.987074	0.99499	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.55	4.59	0.56863	.	0.221448	0.35525	N	0.003147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7018	0.62613	0.0:0.0:0.6658:0.3342	.	.	.	.	X	1357;1358;1361;1367;1380;1368;1348	.	ENSP00000348408:R1367X	R	-	1	2	PTPRT	40146800	0.954000	0.32549	1.000000	0.80357	0.994000	0.84299	0.676000	0.25247	1.549000	0.49425	0.655000	0.94253	CGA	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40713386	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	40713386	G	A	40713386	4	1	97	1	0	0	0	0	0	1	0	0	12842	1124	39	2	265	2	PTPRT	20	40713386	Nonsense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3946777	40713386	22312134	565	14289										
PTPRT	11122	genome.wustl.edu	37	chr20	41400179	41400179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gttttggagtcgcagaaaatGaggtgcttttcctaagagag	13	5	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:41400179G>A	ENST00000373187.1	-	5	579	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	PTPRT_ENST00000373201.1_Missense_Mutation_p.H194Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.H194Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H194Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H194Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H194Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H194Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	194	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGCAGAAAATGAGGTGCTTTT	0.498																																																	0													122	112	115					20																	41400179		1956	4161	6117	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.580C>T	20.37:g.41400179G>A	ENSP00000362283:p.His194Tyr		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.H194Y	ENST00000373187.1	37	c.580	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732753	0.89482	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	Immunoglobulin-like (1);	0.055185	0.64402	D	0.000001	T	0.57110	0.2031	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.58446	-0.7635	10	0.87932	D	0	.	19.6268	0.95680	0.0:0.0:1.0:0.0	.	194;194	O14522-1;O14522	.;PTPRT_HUMAN	Y	194	ENSP00000362286:H194Y;ENSP00000362283:H194Y;ENSP00000362289:H194Y;ENSP00000348408:H194Y;ENSP00000362294:H194Y;ENSP00000362280:H194Y;ENSP00000362297:H194Y	ENSP00000348408:H194Y	H	-	1	0	PTPRT	40833593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.711000	0.92665	0.650000	0.86243	CAT	PTPRT	-	pfscan_Ig-like		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			41400179	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41400179	G	A	41400179	3	1	97	1	0	0	0	0	1	0	0	0	12842	1290	45	1	3914	1	PTPRT	20	41400179	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	686793	41400179	21625341	566	14290										
GDAP1L1	78997	genome.wustl.edu	37	chr20	42907817	42907817	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	accctgctgtcggccgtcatCcccaatgctttccggctggt	10	16	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:42907817C>A	ENST00000342560.5	+	6	1069	c.981C>A	c.(979-981)atC>atA	p.I327I	GDAP1L1_ENST00000537864.1_Silent_p.I135I	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	327	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCCGTCATCCCCAATGCTT	0.607																																																	0													136	120	125					20																	42907817		2203	4300	6503	SO:0001819	synonymous_variant	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.981C>A	20.37:g.42907817C>A			B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.I327	ENST00000342560.5	37	c.981	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL		0.607	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	C	NM_024034		42907817	1	no_errors	ENST00000342560	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42907817	C	A	42907817	2	1	97	1	0	0	0	0	0	0	0	1	6327	845	30	3		3	GDAP1L1	20	42907817	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1507638	42907817	20117703	567	14291			4	61		3	3	61	C		7.025828e-07
GDAP1L1	78997	genome.wustl.edu	37	chr20	42907862	42907862	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggaaacccccatccttcttCggggcgtccttcctcatggg	10	15	2	0	rs201869807		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:42907862C>T	ENST00000342560.5	+	6	1114	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GDAP1L1_ENST00000537864.1_Silent_p.F150F	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	342										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CATCCTTCTTCGGGGCGTCCT	0.582																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	125	114	118		1026	-4	0.9	20		118	0,8600		0,0,4300	no	coding-synonymous	GDAP1L1	NM_024034.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		342/368	42907862	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1026C>T	20.37:g.42907862C>T			B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.F342	ENST00000342560.5	37	c.1026	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL		0.582	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	C	NM_024034		42907862	1	no_errors	ENST00000342560	ensembl	human	known	70_37	silent	SNP	0.975	T	T	42907862	C	T	42907862	2	4	97	1	0	0	0	0	0	0	0	1	6327	883	31	1		1	GDAP1L1	20	42907862	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	45	42907862	20117658	568	14292			4	61		3	3	61	C		7.025828e-07
GDAP1L1	78997	genome.wustl.edu	37	chr20	42907877	42907877	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcttcggggcgtccttcctCatgggctccctgggtgggat	14	12	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:42907877C>G	ENST00000342560.5	+	6	1129	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	GDAP1L1_ENST00000537864.1_Silent_p.L155L	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	347										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTCCTTCCTCATGGGCTCCC	0.587																																																	0													122	112	115					20																	42907877		2203	4300	6503	SO:0001819	synonymous_variant	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1041C>G	20.37:g.42907877C>G			B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.L347	ENST00000342560.5	37	c.1041	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL		0.587	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	C	NM_024034		42907877	1	no_errors	ENST00000342560	ensembl	human	known	70_37	silent	SNP	1.000	G	G	42907877	C	G	42907877	2	3	97	1	0	0	0	0	0	0	0	1	6327	813	29	1		1	GDAP1L1	20	42907877	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	15	42907877	20117643	569	14293			4	61		3	3	61	C		7.025828e-07
DNTTIP1	116092	genome.wustl.edu	37	chr20	44424004	44424004	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ttcttccagaaggcagcactGaacgtgcgagacaatgttgg	12	9	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:44424004G>A	ENST00000372622.3	+	4	362	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	98						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCAGCACTGAACGTGCGAG	0.522																																																	0													55	40	45					20																	44424004		2203	4300	6503	SO:0001819	synonymous_variant	116092			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.294G>A	20.37:g.44424004G>A			B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	NULL	p.L98	ENST00000372622.3	37	c.294	CCDS13369.1	20																																																																																			DNTTIP1	-	NULL		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	G	NM_052951		44424004	1	no_errors	ENST00000372622	ensembl	human	known	70_37	silent	SNP	0.946	A	A	44424004	G	A	44424004	2	1	97	1	0	0	0	0	0	0	0	1	4691	1277	45	1		1	DNTTIP1	20	44424004	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1516127	44424004	18601516	570	14294										
SULF2	55959	genome.wustl.edu	37	chr20	46331391	46331391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cacgtaggagccgttgtattCattaagatacttcccgaaga	9	9	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:46331391C>T	ENST00000359930.4	-	4	1290	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SULF2_ENST00000484875.1_Missense_Mutation_p.E147K|SULF2_ENST00000467815.1_Missense_Mutation_p.E147K|SULF2_ENST00000361612.4_Missense_Mutation_p.E147K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	147					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGTTGTATTCATTAAGATAC	0.512																																																	0													42	38	40					20																	46331391		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.439G>A	20.37:g.46331391C>T	ENSP00000353007:p.Glu147Lys		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.E147K	ENST00000359930.4	37	c.439	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.442456	0.96187	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.27	5.08	5.08	0.68730	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.72353	2.195	0.80722	D	1	P;D;D	0.89917	0.84;1.0;1.0	B;D;D	0.91635	0.37;0.999;0.998	D	0.96958	0.9699	10	0.25106	T	0.35	-20.2258	18.4712	0.90776	0.0:1.0:0.0:0.0	.	147;147;147	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	K	147	ENSP00000353007:E147K;ENSP00000418290:E147K;ENSP00000354662:E147K;ENSP00000418442:E147K;ENSP00000410026:E147K	ENSP00000353007:E147K	E	-	1	0	SULF2	45764798	1.000000	0.71417	0.962000	0.40283	0.932000	0.56968	7.814000	0.86154	2.355000	0.79922	0.561000	0.74099	GAA	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.512	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	C	NM_018837		46331391	-1	no_errors	ENST00000359930	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46331391	C	T	46331391	3	4	97	1	0	0	0	0	1	0	0	0	15401	835	29	1	2245	1	SULF2	20	46331391	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1907387	46331391	16694129	571	14295										
CSE1L	1434	genome.wustl.edu	37	chr20	47691377	47691377	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagtacataaggagagatttGgaaggatctggtgtgtatct	14	3	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:47691377G>C	ENST00000262982.2	+	11	1245	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	CSE1L_ENST00000542325.1_Missense_Mutation_p.L157F|CSE1L_ENST00000396192.3_Missense_Mutation_p.L318F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	374					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAGAGATTTGGAAGGATCTG	0.388																																																	0													193	176	182					20																	47691377		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1122G>C	20.37:g.47691377G>C	ENSP00000262982:p.Leu374Phe		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L374F	ENST00000262982.2	37	c.1122	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363358	0.61513	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.80982	2.52	0.80722	D	1	D;D;P;D;D	0.71674	0.991;0.998;0.944;0.976;0.996	D;D;P;P;D	0.71414	0.918;0.973;0.808;0.797;0.973	T	0.76116	-0.3077	10	0.24483	T	0.36	-9.8213	9.9498	0.41631	0.1553:0.0:0.8447:0.0	.	63;157;318;318;374	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	F	374;157;318	ENSP00000262982:L374F;ENSP00000446477:L157F;ENSP00000379495:L318F	ENSP00000262982:L374F	L	+	3	2	CSE1L	47124784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.474000	0.35398	1.363000	0.46019	-0.136000	0.14681	TTG	CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.388	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47691377	1	no_errors	ENST00000262982	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47691377	G	C	47691377	3	2	97	1	0	0	0	0	1	0	0	0	3935	1339	47	4	1160	4	CSE1L	20	47691377	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1359986	47691377	15334143	572	14296										
CASS4	57091	genome.wustl.edu	37	chr20	55012265	55012265	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acaactgccctgactgctctGacgagctggctttcagcaga	10	13	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:55012265G>A	ENST00000360314.3	+	3	307	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CASS4_ENST00000434344.1_Missense_Mutation_p.D28N|CASS4_ENST00000371336.3_Missense_Mutation_p.D28N	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	28	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGACTGCTCTGACGAGCTGGC	0.572																																																	0													80	71	74					20																	55012265		2203	4300	6503	SO:0001583	missense	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.82G>A	20.37:g.55012265G>A	ENSP00000353462:p.Asp28Asn		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D28N	ENST00000360314.3	37	c.82	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707892	0.68615	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.59772	0.24;0.24;0.24	5.71	3.72	0.42706	Src homology-3 domain (4);	0.048989	0.85682	D	0.000000	T	0.70718	0.3256	L	0.56199	1.76	0.50632	D	0.999882	P;D;D;D	0.89917	0.86;0.999;1.0;1.0	P;D;D;D	0.73380	0.792;0.952;0.977;0.98	T	0.73084	-0.4094	10	0.72032	D	0.01	-11.9335	14.932	0.70923	0.0:0.0:0.7382:0.2617	.	28;28;28;28	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	N	28	ENSP00000353462:D28N;ENSP00000360387:D28N;ENSP00000410027:D28N	ENSP00000353462:D28N	D	+	1	0	CASS4	54445672	1.000000	0.71417	0.014000	0.15608	0.357000	0.29423	7.352000	0.79404	0.723000	0.32274	0.655000	0.94253	GAC	CASS4	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.572	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	G	NM_020356		55012265	1	no_errors	ENST00000360314	ensembl	human	known	70_37	missense	SNP	0.985	A	A	55012265	G	A	55012265	3	1	97	1	0	0	0	0	1	0	0	0	2688	1290	45	1	88	1	CASS4	20	55012265	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7320888	55012265	8013255	573	14297										
PRIC285	85441	genome.wustl.edu	37	chr20	62198726	62198726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cctcatcgatgagaatgtggGagaagaagccgaccggcacc	13	11	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:62198726G>A	ENST00000467148.1	-	6	2054	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	HELZ2_ENST00000427522.2_Missense_Mutation_p.S93F|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	662	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAGAATGTGGGAGAAGAAGCC	0.711																																																	0													13	17	16					20																	62198726		2151	4266	6417	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1985C>T	20.37:g.62198726G>A	ENSP00000417401:p.Ser662Phe		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S662F	ENST00000467148.1	37	c.1985	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324729	0.60634	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82526	-1.62;-1.62	4.76	4.76	0.60689	ATPase, AAA+ type, core (1);	1.766920	0.02806	N	0.123777	D	0.93449	0.7910	M	0.88979	2.995	0.38256	D	0.941758	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.83271	-0.0043	10	0.66056	D	0.02	-24.6214	13.0939	0.59180	0.0:0.298:0.702:0.0	.	662;93	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	F	93;662	ENSP00000393257:S93F;ENSP00000417401:S662F	ENSP00000393257:S93F	S	-	2	0	RP4-697K14.7	61669170	1.000000	0.71417	0.991000	0.47740	0.441000	0.31987	4.947000	0.63583	2.220000	0.72140	0.561000	0.74099	TCC	HELZ2	-	NULL		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62198726	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.997	A	A	62198726	G	A	62198726	3	1	97	1	0	0	0	0	1	0	0	0	12512	1174	41	1	6020	1	PRIC285	20	62198726	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	7186461	62198726	826794	574	14298										
RTEL1	51750	genome.wustl.edu	37	chr20	62319733	62319733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atggagaagagcctggagttCtggcgggtgcgtctcccctg	16	10	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:62319733C>A	ENST00000360203.5	+	20	2041	c.1716C>A	c.(1714-1716)ttC>ttA	p.F572L	RTEL1_ENST00000318100.4_Missense_Mutation_p.F572L|RTEL1_ENST00000508582.2_Missense_Mutation_p.F596L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.F572L|RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000370018.3_Missense_Mutation_p.F572L					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCTGGAGTTCTGGCGGGTGC	0.637																																																	0													58	45	50					20																	62319733		2203	4290	6493	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1716C>A	20.37:g.62319733C>A	ENSP00000353332:p.Phe572Leu			Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.F572L	ENST00000360203.5	37	c.1716		20	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029488	0.35797	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905	T;T;T;T;D	0.91068	-0.41;-0.41;-0.41;-0.41;-2.78	4.73	4.73	0.59995	Helicase, ATP-dependent, c2 type (1);	0.317812	0.34986	N	0.003525	D	0.83746	0.5321	L	0.34521	1.04	0.46586	D	0.999113	P;P;B	0.39216	0.591;0.664;0.125	B;B;B	0.40329	0.312;0.326;0.103	T	0.79225	-0.1891	10	0.12430	T	0.62	-22.3103	9.4156	0.38519	0.0:0.8647:0.0:0.1353	.	596;572;572	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	L	572;572;596;572;14	ENSP00000359035:F572L;ENSP00000322287:F572L;ENSP00000424307:F596L;ENSP00000353332:F572L;ENSP00000388063:F14L	ENSP00000353332:F572L	F	+	3	2	AL353715.1	61790177	0.998000	0.40836	1.000000	0.80357	0.593000	0.36681	0.903000	0.28475	2.456000	0.83038	0.491000	0.48974	TTC	RTEL1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.637	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	C	NM_032957		62319733	1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62319733	C	A	62319733	3	1	97	1	0	0	0	0	1	0	0	0	13750	912	32	3	1790	3	RTEL1	20	62319733	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	121007	62319733	705787	575	14299										
CCT8	10694	genome.wustl.edu	37	chr21	30439221	30439221	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tatttacttaccgcatgcctGagcaataagcttggccagaa	8	10	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:30439221G>C	ENST00000286788.4	-	5	759	c.553C>G	c.(553-555)Cag>Gag	p.Q185E	CCT8_ENST00000542732.1_Missense_Mutation_p.Q166E|CCT8_ENST00000540844.1_Missense_Mutation_p.Q112E|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	185					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CCGCATGCCTGAGCAATAAGC	0.328																																																	0													92	88	90					21																	30439221		2203	4300	6503	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.553C>G	21.37:g.30439221G>C	ENSP00000286788:p.Gln185Glu		A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.Q185E	ENST00000286788.4	37	c.553	CCDS33528.1	21	.	.	.	.	.	.	.	.	.	.	G	5.765	0.325616	0.10900	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.77489	-1.1;-1.1;-1.1	5.73	5.73	0.89815	.	0.051478	0.85682	D	0.000000	T	0.49457	0.1558	N	0.01297	-0.9	0.58432	D	0.999998	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.12837	0.008;0.003;0.002;0.002	T	0.56226	-0.8014	10	0.02654	T	1	-5.0386	16.5109	0.84284	0.0:0.1306:0.8694:0.0	.	112;166;184;185	B4DQH4;B4DEM7;G5E9B2;P50990	.;.;.;TCPQ_HUMAN	E	184;185;166;112	ENSP00000286788:Q185E;ENSP00000444984:Q166E;ENSP00000442730:Q112E	ENSP00000286788:Q185E	Q	-	1	0	CCT8	29361092	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.281000	0.58965	2.854000	0.98071	0.655000	0.94253	CAG	CCT8	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta		0.328	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	G			30439221	-1	no_errors	ENST00000286788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30439221	G	C	30439221	3	2	97	1	0	0	0	0	1	0	0	0	2965	1299	45	1	1137	1	CCT8	21	30439221	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		30439221	17690674	576	14300										
GART	2618	genome.wustl.edu	37	chr21	34883749	34883749	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catgagaagaccctggggatCctccaggtctgggcatctga	13	11	2	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:34883749C>T	ENST00000381831.3	-	17	2387	c.2124G>A	c.(2122-2124)agG>agA	p.R708R	GART_ENST00000381839.3_Silent_p.R708R|GART_ENST00000381815.4_Silent_p.R708R|GART_ENST00000543717.1_Silent_p.R260R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	708	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCCTGGGGATCCTCCAGGTCT	0.453																																																	0													142	148	146					21																	34883749		2203	4300	6503	SO:0001819	synonymous_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2124G>A	21.37:g.34883749C>T			A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.R708	ENST00000381831.3	37	c.2124	CCDS13627.1	21																																																																																			GART	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase		0.453	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	C	NM_000819		34883749	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34883749	C	T	34883749	2	4	97	1	0	0	0	0	0	0	0	1	6262	854	30	1		1	GART	21	34883749	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4444528	34883749	13246146	577	14301										
ITSN1	6453	genome.wustl.edu	37	chr21	35201969	35201969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	catacaccgccaccggccccGagcagctcactctcgcccct	7	22	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:35201969G>A	ENST00000381318.3	+	27	3559	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	ITSN1_ENST00000399349.1_Missense_Mutation_p.E1015K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E1049K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E1086K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1086K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E1020K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1091K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.E1091K|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1086K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1091	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CACCGGCCCCGAGCAGCTCAC	0.502																																																	0													111	122	118					21																	35201969		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3271G>A	21.37:g.35201969G>A	ENSP00000370719:p.Glu1091Lys		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1091K	ENST00000381318.3	37	c.3271	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	35	5.535075	0.96460	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.8	5.8	0.92144	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	L	0.48877	1.53	0.80722	D	1	P;D;D;D;P;D;D;D;D	0.89917	0.95;1.0;0.98;1.0;0.862;1.0;1.0;0.992;1.0	B;D;P;D;P;D;D;P;D	0.97110	0.362;0.999;0.771;0.997;0.622;0.999;0.997;0.761;1.0	T	0.65541	-0.6143	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	983;1054;978;1086;1020;1086;1091;1015;1049	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	1049;1091;1091;1091;1020;1086;1086;1020;1015;1086	ENSP00000382290:E1049K;ENSP00000370719:E1091K;ENSP00000370691:E1091K;ENSP00000370685:E1091K;ENSP00000382301:E1086K;ENSP00000382289:E1086K;ENSP00000382292:E1020K;ENSP00000382286:E1015K;ENSP00000387377:E1086K	ENSP00000370685:E1091K	E	+	1	0	ITSN1	34123839	1.000000	0.71417	0.961000	0.40146	0.670000	0.39368	9.441000	0.97557	2.732000	0.93576	0.650000	0.86243	GAG	ITSN1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.502	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35201969	1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35201969	G	A	35201969	3	1	97	1	0	0	0	0	1	0	0	0	7946	1059	37	1	3373	1	ITSN1	21	35201969	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	318220	35201969	12927926	578	14302										
BRWD1	54014	genome.wustl.edu	37	chr21	40641950	40641950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctccagaacaaatacttcatCagcatgtccctttatttaac	3	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:40641950C>T	ENST00000333229.2	-	15	1732	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	BRWD1_ENST00000380800.3_Missense_Mutation_p.D469N|BRWD1_ENST00000342449.3_Missense_Mutation_p.D469N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	469					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATACTTCATCAGCATGTCCC	0.318																																					Melanoma(170;988 1986 4794 16843 39731)												0													73	69	70					21																	40641950		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1405G>A	21.37:g.40641950C>T	ENSP00000330753:p.Asp469Asn		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.D469N	ENST00000333229.2	37	c.1405	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220357	0.79464	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.60548	0.18;0.18;0.18	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070696	0.64402	D	0.000017	T	0.62417	0.2426	N	0.25144	0.715	0.80722	D	1	D;D;P	0.89917	0.959;1.0;0.889	P;D;P	0.91635	0.833;0.999;0.526	T	0.62402	-0.6862	10	0.44086	T	0.13	-13.8096	12.8448	0.57823	0.0:0.9257:0.0:0.0743	.	180;469;469	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	N	469	ENSP00000330753:D469N;ENSP00000344333:D469N;ENSP00000370178:D469N	ENSP00000330753:D469N	D	-	1	0	BRWD1	39563820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.618000	0.61211	2.636000	0.89361	0.557000	0.71058	GAT	BRWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.318	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40641950	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40641950	C	T	40641950	3	4	97	1	0	0	0	0	1	0	0	0	1528	826	29	1	5908	1	BRWD1	21	40641950	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	5439981	40641950	7487945	579	14303										
PWP2	5822	genome.wustl.edu	37	chr21	45547964	45547964	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacttcaccagggccatcctCatggccctccggctcaacga	9	17	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:45547964C>G	ENST00000291576.7	+	18	2419	c.2292C>G	c.(2290-2292)ctC>ctG	p.L764L	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	764					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGGCCATCCTCATGGCCCTCC	0.687																																																	0													29	27	28					21																	45547964		2202	4299	6501	SO:0001819	synonymous_variant	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2292C>G	21.37:g.45547964C>G			B2RAG8|Q96A77	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L764	ENST00000291576.7	37	c.2292	CCDS33579.1	21																																																																																			PWP2	-	NULL		0.687	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	C	NM_005049		45547964	1	no_errors	ENST00000291576	ensembl	human	known	70_37	silent	SNP	0.998	G	G	45547964	C	G	45547964	2	3	97	1	0	0	0	0	0	0	0	1	12874	813	29	1		1	PWP2	21	45547964	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4906014	45547964	2581931	580	14304										
KRTAP10-2	386679	genome.wustl.edu	37	chr21	45970674	45970674	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aggaggagggtctgcagcagGaggaggtgcagcaagctggc	20	7	1	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:45970674G>C	ENST00000391621.1	-	1	714	c.668C>G	c.(667-669)tCc>tGc	p.S223C	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	223	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TCTGCAGCAGGAGGAGGTGCA	0.622																																																	0													101	109	106					21																	45970674		2203	4300	6503	SO:0001583	missense	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.668C>G	21.37:g.45970674G>C	ENSP00000375479:p.Ser223Cys		Q70LJ5	Missense_Mutation	SNP	NULL	p.S223C	ENST00000391621.1	37	c.668	CCDS42955.1	21	.	.	.	.	.	.	.	.	.	.	g	8.987	0.976796	0.18812	.	.	ENSG00000205445	ENST00000391621	T	0.01963	4.53	2.99	-1.7	0.08159	.	.	.	.	.	T	0.03695	0.0105	M	0.77820	2.39	0.18873	N	0.999986	B	0.12630	0.006	B	0.13407	0.009	T	0.32561	-0.9902	9	0.87932	D	0	.	5.4349	0.16476	0.2264:0.4942:0.2794:0.0	.	223	P60368	KR102_HUMAN	C	223	ENSP00000375479:S223C	ENSP00000375479:S223C	S	-	2	0	KRTAP10-2	44795102	0.879000	0.30193	0.003000	0.11579	0.028000	0.11728	1.339000	0.33885	-0.787000	0.04510	-0.360000	0.07572	TCC	KRTAP10-2	-	NULL		0.622	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-2	HGNC	protein_coding	OTTHUMT00000128027.1	G			45970674	-1	no_errors	ENST00000391621	ensembl	human	known	70_37	missense	SNP	0.026	C	C	45970674	G	C	45970674	3	2	97	1	0	0	0	0	1	0	0	0	8529	1174	41	1	103	1	KRTAP10-2	21	45970674	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	422710	45970674	2159221	581	14305										
HPS4	89781	genome.wustl.edu	37	chr22	26860208	26860208	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	acaagggcctgcgggtccttCtggggagagggtctgctctg	17	10	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:26860208C>T	ENST00000398145.2	-	11	2004	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	HPS4_ENST00000336873.5_Missense_Mutation_p.R463K|HPS4_ENST00000398141.1_Missense_Mutation_p.R476K|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.R458K	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	463					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCGGGTCCTTCTGGGGAGAGG	0.592									Hermansky-Pudlak syndrome																																								0													118	118	118					22																	26860208		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1388G>A	22.37:g.26860208C>T	ENSP00000381213:p.Arg463Lys		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.R476K	ENST00000398145.2	37	c.1427	CCDS13835.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.46|18.46	3.629428|3.629428	0.67015|0.67015	.|.	.|.	ENSG00000100099|ENSG00000100099	ENST00000312736|ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000422379	.|T;T;T;T;T	.|0.58652	.|1.57;1.56;1.57;1.57;0.32	4.52|4.52	2.27|2.27	0.28462|0.28462	.|.	.|1.263590	.|0.04971	.|N	.|0.463823	.|T	.|0.42177	.|0.1191	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|P;P;B;P;B;B	.|0.36535	.|0.557;0.557;0.187;0.557;0.103;0.187	.|B;B;B;B;B;B	.|0.30495	.|0.085;0.085;0.058;0.116;0.058;0.058	.|T	.|0.28713	.|-1.0035	.|10	.|0.06099	.|T	.|0.92	.|0.1649	4.7993|4.7993	0.13289|0.13289	0.0:0.6518:0.2252:0.123|0.0:0.6518:0.2252:0.123	.|.	.|463;463;463;463;476;458	.|Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.|.;.;HPS4_HUMAN;.;.;.	.|K	-1|463;476;458;463;481	.|ENSP00000381213:R463K;ENSP00000381210:R476K;ENSP00000384185:R458K;ENSP00000338457:R463K;ENSP00000415081:R481K	.|ENSP00000338457:R463K	.|R	-|-	.|2	.|0	HPS4|HPS4	25190208|25190208	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.172000|0.172000	0.22775|0.22775	0.004000|0.004000	0.13106|0.13106	1.113000|1.113000	0.41760|0.41760	0.655000|0.655000	0.94253|0.94253	.|AGA	HPS4	-	NULL		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	C	NM_022081		26860208	-1	no_errors	ENST00000398141	ensembl	human	known	70_37	missense	SNP	0.000	T	T	26860208	C	T	26860208	3	4	97	1	0	0	0	0	1	0	0	0	7361	913	32	1	754	1	HPS4	22	26860208	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09		26860208	24444358	582	14306										
TPST2	8459	genome.wustl.edu	37	chr22	26937096	26937096	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gggaacaggcgcgacaggtaGaccgaggacttgagcgtaaa	16	8	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:26937096G>T	ENST00000338754.4	-	3	771	c.501C>A	c.(499-501)gtC>gtA	p.V167V	TPST2_ENST00000398110.2_Silent_p.V167V|TPST2_ENST00000403880.1_Silent_p.V167V	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	167					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCGACAGGTAGACCGAGGACT	0.627																																																	0													99	74	83					22																	26937096		2203	4300	6503	SO:0001819	synonymous_variant	8459			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.501C>A	22.37:g.26937096G>T			B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	pfam_Sulfotransferase_dom	p.V167	ENST00000338754.4	37	c.501	CCDS13839.1	22																																																																																			TPST2	-	pfam_Sulfotransferase_dom		0.627	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	G	NM_003595		26937096	-1	no_errors	ENST00000338754	ensembl	human	known	70_37	silent	SNP	0.936	T	T	26937096	G	T	26937096	2	4	97	1	0	0	0	0	0	0	0	1	16459	929	33	3		3	TPST2	22	26937096	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	76888	26937096	24367470	583	14307										
NIPSNAP1	8508	genome.wustl.edu	37	chr22	29956795	29956795	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cactgcctcctggttctcctGccggtacttgatggcccgag	11	15	1	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:29956795G>C	ENST00000216121.7	-	8	888	c.634C>G	c.(634-636)Cag>Gag	p.Q212E		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	212					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TGGTTCTCCTGCCGGTACTTG	0.577																																																	1	Unknown(1)	lung(1)											107	105	106					22																	29956795		2203	4300	6503	SO:0001583	missense	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.634C>G	22.37:g.29956795G>C	ENSP00000216121:p.Gln212Glu		B2RAY3|O43800	Missense_Mutation	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.Q212E	ENST00000216121.7	37	c.634	CCDS13860.1	22	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951558	0.92660	.	.	ENSG00000184117	ENST00000216121	T	0.39787	1.06	4.91	4.91	0.64330	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.76433	2.335	0.80722	D	1	D;P	0.56746	0.977;0.592	D;B	0.62955	0.909;0.349	T	0.67829	-0.5569	10	0.72032	D	0.01	-2.0456	18.6528	0.91437	0.0:0.0:1.0:0.0	.	192;212	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	E	212	ENSP00000216121:Q212E	ENSP00000216121:Q212E	Q	-	1	0	NIPSNAP1	28286795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.449000	0.80643	2.716000	0.92895	0.561000	0.74099	CAG	NIPSNAP1	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.577	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	HGNC	protein_coding	OTTHUMT00000322117.1	G			29956795	-1	no_errors	ENST00000216121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29956795	G	C	29956795	3	2	97	1	0	0	0	0	1	0	0	0	10453	1328	46	4	232	4	NIPSNAP1	22	29956795	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3019699	29956795	21347771	584	14308										
LIF	3976	genome.wustl.edu	37	chr22	30639682	30639682	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gcgatgatctgcttatacttCcccaggagttgacagcccag	10	12	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:30639682C>T	ENST00000249075.3	-	3	722	c.567G>A	c.(565-567)ggG>ggA	p.G189G	RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	189					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCTTATACTTCCCCAGGAGTT	0.567																																																	0													140	129	132					22																	30639682		2203	4300	6503	SO:0001819	synonymous_variant	3976				CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"differentiation inhibitory activity", "differentiation-inducing factor", "hepatocyte-stimulating factor III", "cholinergic differentiation factor", "human interleukin in DA cells"	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.567G>A	22.37:g.30639682C>T			B2RCW7|B5MC23|Q52LZ2	Silent	SNP	pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF	p.G189	ENST00000249075.3	37	c.567	CCDS13872.1	22																																																																																			LIF	-	pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF		0.567	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIF	HGNC	protein_coding	OTTHUMT00000320508.1	C	NM_002309		30639682	-1	no_errors	ENST00000249075	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30639682	C	T	30639682	2	4	97	1	0	0	0	0	0	0	0	1	8799	842	30	1		1	LIF	22	30639682	Silent	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	682887	30639682	20664884	585	14309										
TOMM22	56993	genome.wustl.edu	37	chr22	39078412	39078412	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccgcggccggagccacttttGatctttccctctttgtggct	10	14	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:39078412G>C	ENST00000216034.4	+	2	233	c.202G>C	c.(202-204)Gat>Cat	p.D68H	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	68					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					AGCCACTTTTGATCTTTCCCT	0.562																																																	0													67	69	68					22																	39078412		2203	4300	6503	SO:0001583	missense	56993			AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.202G>C	22.37:g.39078412G>C	ENSP00000216034:p.Asp68His			Missense_Mutation	SNP	pfam_Tom22	p.D68H	ENST00000216034.4	37	c.202	CCDS13975.1	22	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345315	0.61073	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.4	5.4	0.78164	.	0.095319	0.64402	D	0.000001	T	0.62048	0.2396	L	0.58428	1.81	0.58432	D	0.999997	B	0.26002	0.139	B	0.24541	0.054	T	0.60372	-0.7276	9	0.48119	T	0.1	-5.8808	19.1664	0.93559	0.0:0.0:1.0:0.0	.	68	Q9NS69	TOM22_HUMAN	H	68	.	ENSP00000216034:D68H	D	+	1	0	TOMM22	37408358	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.134000	0.64770	2.519000	0.84933	0.563000	0.77884	GAT	TOMM22	-	pfam_Tom22		0.562	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM22	HGNC	protein_coding	OTTHUMT00000320842.1	G			39078412	1	no_errors	ENST00000216034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39078412	G	C	39078412	3	2	97	1	0	0	0	0	1	0	0	0	16386	1290	45	1	208	1	TOMM22	22	39078412	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	8438730	39078412	12226154	586	14310										
APOBEC3F	200316	genome.wustl.edu	37	chr22	39445549	39445549	+	Missense_Mutation	SNP	C	C	T													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggaagttgtaaagcaccactCacctgtctcctggaagaggg							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:39445549C>T	ENST00000308521.5	+	5	1043	c.686C>T	c.(685-687)tCa>tTa	p.S229L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	229					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					AAGCACCACTCACCTGTCTCC	0.473																																																	0													141	126	131					22																	39445549		2203	4300	6503	SO:0001583	missense	200316			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.686C>T	22.37:g.39445549C>T	ENSP00000309749:p.Ser229Leu		B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.S229L	ENST00000308521.5	37	c.686	CCDS33648.1	22	.	.	.	.	.	.	.	.	.	.	.	9.036	0.988523	0.18966	.	.	ENSG00000128394	ENST00000308521	T	0.68331	-0.32	1.53	0.473	0.16763	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.55305	0.1912	L	0.50993	1.605	0.09310	N	1	B	0.22080	0.064	B	0.23275	0.045	T	0.52442	-0.8575	9	0.87932	D	0	.	3.5473	0.07834	0.0:0.7404:0.0:0.2596	.	229	Q8IUX4	ABC3F_HUMAN	L	229	ENSP00000309749:S229L	ENSP00000309749:S229L	S	+	2	0	APOBEC3F	37775495	0.000000	0.05858	0.009000	0.14445	0.014000	0.08584	-0.525000	0.06214	0.209000	0.20645	0.505000	0.49811	TCA	APOBEC3F	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.473	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	HGNC	protein_coding	OTTHUMT00000321216.1	C	NM_145298		39445549	1	no_errors	ENST00000308521	ensembl	human	known	70_37	missense	SNP	0.011	T	T	39445549	C	T	39445549	3	4	97	1	0	0	0	0	1	0	0	0	793	838	29	1	843	1	APOBEC3F	22	39445549	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	367137	39445549	11859017	587	14311	77	2								
APOBEC3F	200316	genome.wustl.edu	37	chr22	39445552	39445552	+	Missense_Mutation	SNP	C	C	T													0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agttgtaaagcaccactcacCtgtctcctggaagaggggcg							TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:39445552C>T	ENST00000308521.5	+	5	1046	c.689C>T	c.(688-690)cCt>cTt	p.P230L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	230					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CACCACTCACCTGTCTCCTGG	0.473																																																	0													138	123	128					22																	39445552		2203	4300	6503	SO:0001583	missense	200316			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.689C>T	22.37:g.39445552C>T	ENSP00000309749:p.Pro230Leu		B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.P230L	ENST00000308521.5	37	c.689	CCDS33648.1	22	.	.	.	.	.	.	.	.	.	.	.	6.410	0.443727	0.12164	.	.	ENSG00000128394	ENST00000308521	T	0.67171	-0.25	1.53	-1.26	0.09376	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.45418	0.1341	N	0.17248	0.465	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.27606	-1.0069	9	0.35671	T	0.21	.	6.9502	0.24540	0.0:0.4626:0.5374:0.0	.	230	Q8IUX4	ABC3F_HUMAN	L	230	ENSP00000309749:P230L	ENSP00000309749:P230L	P	+	2	0	APOBEC3F	37775498	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-2.735000	0.00802	-0.221000	0.09973	0.505000	0.49811	CCT	APOBEC3F	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.473	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	HGNC	protein_coding	OTTHUMT00000321216.1	C	NM_145298		39445552	1	no_errors	ENST00000308521	ensembl	human	known	70_37	missense	SNP	0.005	T	T	39445552	C	T	39445552	3	4	97	1	0	0	0	0	1	0	0	0	793	681	24	4	846	4	APOBEC3F	22	39445552	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	3	39445552	11859014	588	14312	77	2								
SGSM3	27352	genome.wustl.edu	37	chr22	40801689	40801689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgctgttcctggaggaggagGacgccttctggatgatgtct	15	8	2	1	rs547805871		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:40801689G>A	ENST00000248929.9	+	8	844	c.655G>A	c.(655-657)Gac>Aac	p.D219N	SGSM3_ENST00000454798.2_Missense_Mutation_p.D152N	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GGAGGAGGAGGACGCCTTCTG	0.627													G|||	1	0.000199681	0	0	5008	,	,		18980	0		0	False		,,,				2504	0.001																0													128	135	133					22																	40801689		2203	4300	6503	SO:0001583	missense	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.655G>A	22.37:g.40801689G>A	ENSP00000248929:p.Asp219Asn			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.D219N	ENST00000248929.9	37	c.655	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326377	0.41197	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.05925	3.37;3.37;3.37	4.67	4.67	0.58626	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.62154	1.92	0.80722	D	1	B;B;B;B;B	0.31859	0.179;0.179;0.343;0.095;0.095	B;B;B;B;B	0.40477	0.33;0.33;0.211;0.111;0.111	T	0.03483	-1.1032	10	0.46703	T	0.11	.	17.9375	0.89017	0.0:0.0:1.0:0.0	.	156;152;219;219;219	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	N	152;219;162;152	ENSP00000399249:D152N;ENSP00000248929:D219N;ENSP00000390998:D152N	ENSP00000248929:D219N	D	+	1	0	SGSM3	39131635	1.000000	0.71417	0.976000	0.42696	0.144000	0.21451	9.400000	0.97290	2.329000	0.79093	0.313000	0.20887	GAC	SGSM3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	G	NM_015705		40801689	1	no_errors	ENST00000248929	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40801689	G	A	40801689	3	1	97	1	0	0	0	0	1	0	0	0	14254	1174	41	1	681	1	SGSM3	22	40801689	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1356137	40801689	10502877	589	14313										
CERK	64781	genome.wustl.edu	37	chr22	47089360	47089360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atacagtgctttcttctgctCctcctccagctgctgcttgc	7	15	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:47089360C>T	ENST00000216264.8	-	10	1202	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CERK_ENST00000541677.1_Missense_Mutation_p.E166K|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	364					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTTCTGCTCCTCCTCCAGC	0.483																																																	0													206	173	184					22																	47089360		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1090G>A	22.37:g.47089360C>T	ENSP00000216264:p.Glu364Lys		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.E364K	ENST00000216264.8	37	c.1090	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	c	11.41	1.630904	0.28978	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.28895	2.28;1.59	5.34	4.26	0.50523	.	0.404655	0.27504	N	0.019061	T	0.26268	0.0641	L	0.52759	1.655	0.48901	D	0.999729	B	0.11235	0.004	B	0.09377	0.004	T	0.04509	-1.0946	10	0.16896	T	0.51	-8.4862	12.3464	0.55124	0.0:0.6728:0.3272:0.0	.	364	Q8TCT0	CERK1_HUMAN	K	364;166	ENSP00000216264:E364K;ENSP00000438659:E166K	ENSP00000216264:E364K	E	-	1	0	CERK	45468024	0.966000	0.33281	0.948000	0.38648	0.232000	0.25224	2.010000	0.40913	2.486000	0.83907	0.650000	0.86243	GAG	CERK	-	NULL		0.483	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	C	NM_022766		47089360	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	missense	SNP	0.970	T	T	47089360	C	T	47089360	3	4	97	1	0	0	0	0	1	0	0	0	3272	864	30	1	539	1	CERK	22	47089360	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	6287671	47089360	4215206	590	14314										
ARSH	347527	genome.wustl.edu	37	chrX	2951222	2951222	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccttcagaagcccttccactGaaccctgacaatgagccatt	6	15	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:2951222G>A	ENST00000381130.2	+	9	1485	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	495					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L495L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCTTCCACTGAACCCTGACA	0.493																																																	1	Substitution - coding silent(1)	endometrium(1)											99	72	81					X																	2951222		2203	4300	6503	SO:0001819	synonymous_variant	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1485G>A	X.37:g.2951222G>A				Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L495	ENST00000381130.2	37	c.1485	CCDS35198.1	X																																																																																			ARSH	-	superfamily_Alkaline_phosphatase_core		0.493	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSH	HGNC	protein_coding	OTTHUMT00000356489.1	G	NM_001011719		2951222	1	no_errors	ENST00000381130	ensembl	human	known	70_37	silent	SNP	0.013	A	A	2951222	G	A	2951222	2	1	97	1	0	0	0	0	0	0	0	1	994	1277	45	1		1	ARSH	23	2951222	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09		2951222	152319338	591	14315										
TMSB4X	7114	genome.wustl.edu	37	chrX	12994420	12994420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tggctgagatcgagaaattcGataagtcgaaactgaagaag	12	5	0	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:12994420G>A	ENST00000380635.1	+	2	256	c.40G>A	c.(40-42)Gat>Aat	p.D14N	TMSB4X_ENST00000380636.1_Missense_Mutation_p.D14N|TMSB4X_ENST00000451311.2_Missense_Mutation_p.D14N|TMSB4X_ENST00000380633.1_Missense_Mutation_p.D14N			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	14					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						CGAGAAATTCGATAAGTCGAA	0.522																																																	0													65	62	63					X																	12994420		2203	4297	6500	SO:0001583	missense	7114				CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"thymosin, beta 4, X chromosome"	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.40G>A	X.37:g.12994420G>A	ENSP00000370009:p.Asp14Asn		P01253|P01254|Q546P5|Q63576|Q9UE55	Missense_Mutation	SNP	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata	p.D14N	ENST00000380635.1	37	c.40	CCDS35202.1	X	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001010	0.54254	.	.	ENSG00000205542	ENST00000451311;ENST00000380636;ENST00000380635;ENST00000380633	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000008	T	0.68293	0.2985	.	.	.	0.44603	D	0.997578	D	0.89917	1.0	D	0.91635	0.999	T	0.66444	-0.5922	9	0.30078	T	0.28	-4.4309	13.7602	0.62961	0.0:0.0:0.846:0.154	.	14	P62328	TYB4_HUMAN	N	14	ENSP00000414376:D14N;ENSP00000370010:D14N;ENSP00000370009:D14N;ENSP00000370007:D14N	ENSP00000370007:D14N	D	+	1	0	TMSB4X	12904341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.754000	0.91642	2.064000	0.61679	0.600000	0.82982	GAT	TMSB4X	-	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata		0.522	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TMSB4X	HGNC	protein_coding	OTTHUMT00000055779.1	G	NM_021109		12994420	1	no_errors	ENST00000380633	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12994420	G	A	12994420	3	1	97	1	0	0	0	0	1	0	0	0	16287	1058	37	1	42	1	TMSB4X	23	12994420	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	10043198	12994420	142276140	592	14316										
ATXN3L	92552	genome.wustl.edu	37	chrX	13337387	13337387	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaaatcctcctcatcttggtCtgatgttccagactcatcac	5	13	5	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:13337387C>G	ENST00000380622.2	-	1	1131	c.667G>C	c.(667-669)Gac>Cac	p.D223H	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	223					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCATCTTGGTCTGATGTTCCA	0.373																																																	0													250	230	236					X																	13337387		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.667G>C	X.37:g.13337387C>G	ENSP00000369996:p.Asp223His		B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.D223H	ENST00000380622.2	37	c.667	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	c	11.84	1.759279	0.31137	.	.	ENSG00000123594	ENST00000380622	T	0.22134	1.97	0.652	0.652	0.17823	Ubiquitin interacting motif (1);	0.101654	0.64402	D	0.000004	T	0.21550	0.0519	L	0.47190	1.495	0.43330	D	0.995364	P	0.45634	0.863	P	0.48089	0.566	T	0.02275	-1.1184	10	0.56958	D	0.05	.	6.9243	0.24405	0.0:0.9999:0.0:1.0E-4	.	223	Q9H3M9	ATX3L_HUMAN	H	223	ENSP00000369996:D223H	ENSP00000369996:D223H	D	-	1	0	ATXN3L	13247308	1.000000	0.71417	0.005000	0.12908	0.004000	0.04260	4.187000	0.58344	0.575000	0.29434	0.417000	0.27973	GAC	ATXN3L	-	pfam_Ubiquitin-int_motif,prints_Josephin		0.373	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	C	NM_001135995		13337387	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	missense	SNP	0.971	G	G	13337387	C	G	13337387	3	3	97	1	0	0	0	0	1	0	0	0	1215	913	32	1	404	1	ATXN3L	23	13337387	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	342967	13337387	141933173	593	14317										
PIGA	5277	genome.wustl.edu	37	chrX	15349598	15349598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	atccaaaaagggaatggtccGtgaagactgtctgaagcccc	11	10	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:15349598G>A	ENST00000333590.4	-	2	539	c.455C>T	c.(454-456)aCg>aTg	p.T152M	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	152					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GGAATGGTCCGTGAAGACTGT	0.458																																																	0													87	69	75					X																	15349598		2203	4300	6503	SO:0001583	missense	5277			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"Glycosyltransferase group 1 domain containing", "Phosphatidylinositol glycan anchor biosynthesis"	8957	protein-coding gene	gene with protein product	"paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase"	311770	"phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.455C>T	X.37:g.15349598G>A	ENSP00000369820:p.Thr152Met		B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.T152M	ENST00000333590.4	37	c.455	CCDS14165.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180879	0.78677	.	.	ENSG00000165195	ENST00000333590	T	0.81163	-1.46	5.88	5.88	0.94601	PIGA, GPI anchor biosynthesis (1);	0.000000	0.85682	D	0.000000	D	0.92123	0.7503	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93517	0.6858	10	0.87932	D	0	-8.937	18.0155	0.89239	0.0:0.0:1.0:0.0	.	152	P37287	PIGA_HUMAN	M	152	ENSP00000369820:T152M	ENSP00000369820:T152M	T	-	2	0	PIGA	15259519	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.434000	0.97515	2.476000	0.83614	0.544000	0.68410	ACG	PIGA	-	pfam_PIGA_GPI_anchor_biosynthesis		0.458	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	G	NM_002641		15349598	-1	no_errors	ENST00000333590	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15349598	G	A	15349598	3	1	97	1	0	0	0	0	1	0	0	0	11908	1145	40	2	1019	2	PIGA	23	15349598	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2012211	15349598	139920962	594	14318										
NHS	4810	genome.wustl.edu	37	chrX	17746794	17746794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcaccgagtgatgactccatCatttcaccacttagtgaaga	7	11	3	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:17746794C>G	ENST00000380060.3	+	7	4523	c.4185C>G	c.(4183-4185)atC>atG	p.I1395M	NHS_ENST00000398097.3_Missense_Mutation_p.I1239M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1416					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATGACTCCATCATTTCACCAC	0.428																																																	0													105	96	99					X																	17746794		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4185C>G	X.37:g.17746794C>G	ENSP00000369400:p.Ile1395Met		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.I1395M	ENST00000380060.3	37	c.4185	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341673	0.24339	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.46819	0.86;0.87	6.06	2.24	0.28232	.	0.852401	0.11035	N	0.606813	T	0.36441	0.0967	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.12013	0.005;0.001;0.001;0.005	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.29731	-1.0002	10	0.41790	T	0.15	-0.0926	4.807	0.13325	0.207:0.2804:0.4358:0.0767	.	1416;1237;1239;1395	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	M	1395;1239;1237	ENSP00000369400:I1395M;ENSP00000381170:I1239M	ENSP00000369397:I1237M	I	+	3	3	NHS	17656715	0.982000	0.34865	0.071000	0.20095	0.990000	0.78478	0.490000	0.22403	0.012000	0.14892	0.600000	0.82982	ATC	NHS	-	NULL		0.428	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17746794	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.039	G	G	17746794	C	G	17746794	3	3	97	1	0	0	0	0	1	0	0	0	10435	816	29	1	4316	1	NHS	23	17746794	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	2397196	17746794	137523766	595	14319										
GPR64	10149	genome.wustl.edu	37	chrX	19032054	19032054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgggtcacaggtgaataatcTggaggctcagcaaaagaggt	14	6	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:19032054T>C	ENST00000379869.3	-	16	1012	c.849A>G	c.(847-849)ccA>ccG	p.P283P	GPR64_ENST00000354791.3_Silent_p.P267P|GPR64_ENST00000379876.1_Silent_p.P259P|GPR64_ENST00000379873.2_Silent_p.P283P|GPR64_ENST00000357991.3_Silent_p.P280P|GPR64_ENST00000379878.3_Silent_p.P267P|GPR64_ENST00000360279.4_Silent_p.P261P|GPR64_ENST00000357544.3_Silent_p.P253P|GPR64_ENST00000340581.3_Silent_p.P253P|GPR64_ENST00000356606.4_Silent_p.P269P	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	283					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTGAATAATCTGGAGGCTCAG	0.557																																																	0													109	108	108					X																	19032054		2203	4300	6503	SO:0001819	synonymous_variant	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.849A>G	X.37:g.19032054T>C			B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P283	ENST00000379869.3	37	c.849	CCDS43923.1	X																																																																																			GPR64	-	NULL		0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	T			19032054	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	silent	SNP	0.000	C	C	19032054	T	C	19032054	2	2	97	1	0	0	0	0	0	0	0	1	6724	1567	55	5		5	GPR64	23	19032054	Silent	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	1285260	19032054	136238506	596	14320										
RPS6KA3	6197	genome.wustl.edu	37	chrX	20185772	20185772	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gacagcactggcctctcgttCagagaaaaatttttgtctaa	8	9	3	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:20185772C>T	ENST00000379565.3	-	17	1744	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E485K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E483K|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E484K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	513	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GCCTCTCGTTCAGAGAAAAAT	0.353																																																	0													169	174	173					X																	20185772		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1537G>A	X.37:g.20185772C>T	ENSP00000368884:p.Glu513Lys		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E513K	ENST00000379565.3	37	c.1537	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.552279	0.96501	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83251	-0.0053	10	0.87932	D	0	.	18.9908	0.92791	0.0:1.0:0.0:0.0	.	484;483;485;513	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	K	513;485;483;484	ENSP00000368884:E513K;ENSP00000440220:E485K;ENSP00000368865:E483K;ENSP00000444837:E484K	ENSP00000368865:E483K	E	-	1	0	RPS6KA3	20095693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GAA	RPS6KA3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.353	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	C	NM_004586		20185772	-1	no_errors	ENST00000379565	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20185772	C	T	20185772	3	4	97	1	0	0	0	0	1	0	0	0	13682	835	29	1	709	1	RPS6KA3	23	20185772	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	1153718	20185772	135084788	597	14321										
ZFX	7543	genome.wustl.edu	37	chrX	24225966	24225966	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	actctcagccagaagatgaaGatttaagtaagtaggtggcc	11	7	1	4			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:24225966G>C	ENST00000379177.1	+	8	1361	c.934G>C	c.(934-936)Gat>Cat	p.D312H	ZFX_ENST00000540034.1_Missense_Mutation_p.D351H|ZFX_ENST00000304543.5_Missense_Mutation_p.D312H|ZFX_ENST00000539115.1_Missense_Mutation_p.D83H|ZFX_ENST00000338565.3_Missense_Mutation_p.D262H|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Missense_Mutation_p.D312H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	312					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGAAGATGAAGATTTAAGTAA	0.373																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													187	168	174					X																	24225966		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.934G>C	X.37:g.24225966G>C	ENSP00000368475:p.Asp312His		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D351H	ENST00000379177.1	37	c.1051	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374573	0.61735	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.62	5.62	0.85841	Transcriptional activator, Zfx / Zfy domain (1);	0.076728	0.53938	D	0.000060	T	0.79851	0.4517	M	0.73962	2.25	0.54753	D	0.999984	P;P;D;D	0.76494	0.904;0.81;0.971;0.999	P;P;D;D	0.72338	0.859;0.779;0.924;0.977	T	0.81402	-0.0949	10	0.66056	D	0.02	-5.1207	18.918	0.92513	0.0:0.0:1.0:0.0	.	351;81;312;316	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	H	83;312;81;312;312;351;262;107	ENSP00000438233:D83H;ENSP00000368486:D312H;ENSP00000368475:D312H;ENSP00000304985:D312H;ENSP00000441382:D351H;ENSP00000343384:D262H	ENSP00000304985:D312H	D	+	1	0	ZFX	24135887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.501000	0.84356	0.594000	0.82650	GAT	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.373	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	G	NM_003410		24225966	1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24225966	G	C	24225966	3	2	97	1	0	0	0	0	1	0	0	0	17691	942	33	1	948	1	ZFX	23	24225966	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4040194	24225966	131044594	598	14322										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765662	27765662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggcaagagcctttgtgcagcGtttccgcctgcaatatcgtc	11	12	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:27765662G>A	ENST00000451261.2	+	5	1049	c.650G>A	c.(649-651)cGt>cAt	p.R217H		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	217										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTTGTGCAGCGTTTCCGCCTG	0.577																																																	0													65	54	57					X																	27765662		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.650G>A	X.37:g.27765662G>A	ENSP00000462745:p.Arg217His		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R217H	ENST00000451261.2	37	c.650	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.577	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	G	XM_293354		27765662	1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	0.992	A	A	27765662	G	A	27765662	3	1	97	1	0	0	0	0	1	0	0	0	4283	1145	40	2	652	2	DCAF8L2	23	27765662	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3539696	27765662	127504898	599	14323										
MAGEB10	139422	genome.wustl.edu	37	chrX	27839436	27839436	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gagtcatcatgcctcgaggtCagaagagtaaactccgtgcc	11	11	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:27839436C>T	ENST00000356790.2	+	3	258	c.13C>T	c.(13-15)Cag>Tag	p.Q5*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	5										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GCCTCGAGGTCAGAAGAGTAA	0.522																																																	0													48	48	48					X																	27839436		2202	4300	6502	SO:0001587	stop_gained	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.13C>T	X.37:g.27839436C>T	ENSP00000368304:p.Gln5*		Q494Y6|Q494Y7|Q9BZ78	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q5*	ENST00000356790.2	37	c.13	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651122	0.67472	.	.	ENSG00000177689	ENST00000356790	.	.	.	2.51	0.572	0.17357	.	1.078040	0.07473	U	0.902502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.4329	0.21807	0.5184:0.4816:0.0:0.0	.	.	.	.	X	5	.	ENSP00000368304:Q5X	Q	+	1	0	MAGEB10	27749357	0.901000	0.30685	0.030000	0.17652	0.321000	0.28281	0.173000	0.16724	0.021000	0.15133	0.415000	0.27848	CAG	MAGEB10	-	pfam_Melanoma_ass_antigen_N		0.522	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	C	NM_182506		27839436	1	no_errors	ENST00000356790	ensembl	human	known	70_37	nonsense	SNP	0.029	T	T	27839436	C	T	27839436	4	4	97	1	0	0	0	0	0	1	0	0	9196	827	29	1	15	1	MAGEB10	23	27839436	Nonsense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	73774	27839436	127431124	600	14324										
GSPT2	23708	genome.wustl.edu	37	chrX	51488448	51488448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gtaagacacgaccccgcttcGtgaaacaagatcaagtatgc	9	11	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:51488448G>A	ENST00000340438.4	+	1	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	576					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418																																																	0													102	89	94					X																	51488448		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1726G>A	X.37:g.51488448G>A	ENSP00000341247:p.Val576Met		Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.V576M	ENST00000340438.4	37	c.1726	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278888	0.59758	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.35421	1.31	4.75	4.75	0.60458	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66666	-0.5866	10	0.87932	D	0	-9.2185	14.5557	0.68100	0.0:0.0:1.0:0.0	.	576	Q8IYD1	ERF3B_HUMAN	M	576;493	ENSP00000341247:V576M	ENSP00000341247:V576M	V	+	1	0	GSPT2	51505188	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	7.141000	0.77330	2.615000	0.88500	0.596000	0.82720	GTG	GSPT2	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	G			51488448	1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51488448	G	A	51488448	3	1	97	1	0	0	0	0	1	0	0	0	6847	1145	40	2	1728	2	GSPT2	23	51488448	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	23649012	51488448	103782112	601	14325										
FAM120C	54954	genome.wustl.edu	37	chrX	54161359	54161359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gctttagaaggcaggtaattGggaaactgggatgcagaaga	15	4	0	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:54161359G>A	ENST00000375180.2	-	7	1577	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	FAM120C_ENST00000328235.4_Silent_p.P507P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	507							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGGTAATTGGGAAACTGGG	0.512																																																	0													85	69	75					X																	54161359		2203	4300	6503	SO:0001819	synonymous_variant	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1521C>T	X.37:g.54161359G>A			B2RMT7	Silent	SNP	NULL	p.P507	ENST00000375180.2	37	c.1521	CCDS14356.1	X																																																																																			FAM120C	-	NULL		0.512	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	G	NM_017848		54161359	-1	no_errors	ENST00000375180	ensembl	human	known	70_37	silent	SNP	0.989	A	A	54161359	G	A	54161359	2	1	97	1	0	0	0	0	0	0	0	1	5433	1335	47	4		4	FAM120C	23	54161359	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2672911	54161359	101109201	602	14326										
KIF4A	24137	genome.wustl.edu	37	chrX	69594046	69594046	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagtcatcaatctgcaaaagGaaaaggaagaattggttctt	9	5	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:69594046G>C	ENST00000374403.3	+	16	1802	c.1720G>C	c.(1720-1722)Gaa>Caa	p.E574Q	KIF4A_ENST00000374388.3_Missense_Mutation_p.E574Q	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	574					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGCAAAAGGAAAAGGAAGA	0.338																																																	0													72	64	67					X																	69594046		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1720G>C	X.37:g.69594046G>C	ENSP00000363524:p.Glu574Gln		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E574Q	ENST00000374403.3	37	c.1720	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512068	0.64522	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74842	-0.88;-0.88	4.4	3.54	0.40534	.	0.000000	0.53938	D	0.000050	T	0.81819	0.4903	M	0.79123	2.44	0.80722	D	1	D;D	0.61697	0.99;0.986	P;P	0.57425	0.728;0.82	T	0.82997	-0.0179	10	0.87932	D	0	.	10.6998	0.45920	0.0956:0.0:0.9044:0.0	.	574;574	O95239;O95239-2	KIF4A_HUMAN;.	Q	574	ENSP00000363509:E574Q;ENSP00000363524:E574Q	ENSP00000363509:E574Q	E	+	1	0	KIF4A	69510771	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	8.615000	0.90920	0.866000	0.35629	0.523000	0.50628	GAA	KIF4A	-	NULL		0.338	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69594046	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69594046	G	C	69594046	3	2	97	1	0	0	0	0	1	0	0	0	8323	1175	41	1	1778	1	KIF4A	23	69594046	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	15432687	69594046	85676514	603	14327										
BRWD3	254065	genome.wustl.edu	37	chrX	80064057	80064057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ccagatcctcgaagcttcttCggtgctctttcccctcccaa	6	17	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:80064057C>T	ENST00000373275.4	-	4	377	c.161G>A	c.(160-162)cGa>cAa	p.R54Q		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	54					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAAGCTTCTTCGGTGCTCTTT	0.552																																																	0													54	51	52					X																	80064057		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.161G>A	X.37:g.80064057C>T	ENSP00000362372:p.Arg54Gln		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R54Q	ENST00000373275.4	37	c.161	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	c	6.688	0.495477	0.12762	.	.	ENSG00000165288	ENST00000373275	T	0.10288	2.89	4.97	4.02	0.46733	.	0.263341	0.31279	N	0.007924	T	0.03651	0.0104	N	0.03050	-0.425	0.24018	N	0.996151	B	0.14805	0.011	B	0.08055	0.003	T	0.42732	-0.9434	9	.	.	.	-5.3435	6.3036	0.21127	0.0:0.8602:0.0:0.1398	.	54	Q6RI45	BRWD3_HUMAN	Q	54	ENSP00000362372:R54Q	.	R	-	2	0	BRWD3	79950713	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	2.093000	0.41710	2.306000	0.77630	0.495000	0.49567	CGA	BRWD3	-	NULL		0.552	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252		80064057	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	0.992	T	T	80064057	C	T	80064057	3	4	97	1	0	0	0	0	1	0	0	0	1529	884	31	1	5399	1	BRWD3	23	80064057	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	10470011	80064057	75206503	604	14328										
RPS6KA6	27330	genome.wustl.edu	37	chrX	83320049	83320049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggtctctgtgagttatccatGagtgctttaatatttgttca	9	6	2	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:83320049G>A	ENST00000262752.2	-	21	2049	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S681L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	681	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTTATCCATGAGTGCTTTAA	0.358																																																	0													194	166	175					X																	83320049		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2042C>T	X.37:g.83320049G>A	ENSP00000262752:p.Ser681Leu		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.S681L	ENST00000262752.2	37	c.2042	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113674	0.56398	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.38887	1.11;1.11	4.77	3.88	0.44766	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.124647	0.56097	D	0.000027	T	0.41419	0.1158	L	0.39898	1.24	0.43988	D	0.996683	B;B	0.25312	0.095;0.123	B;B	0.35655	0.102;0.207	T	0.39542	-0.9609	10	0.72032	D	0.01	.	14.2826	0.66224	0.0:0.1461:0.8538:0.0	.	681;681	B7ZL90;Q9UK32	.;KS6A6_HUMAN	L	681	ENSP00000262752:S681L;ENSP00000440830:S681L	ENSP00000262752:S681L	S	-	2	0	RPS6KA6	83206705	1.000000	0.71417	0.991000	0.47740	0.934000	0.57294	7.074000	0.76791	0.883000	0.36040	0.600000	0.82982	TCA	RPS6KA6	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	G	NM_014496		83320049	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83320049	G	A	83320049	3	1	97	1	0	0	0	0	1	0	0	0	13685	1294	45	1	203	1	RPS6KA6	23	83320049	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	3255992	83320049	71950511	605	14329										
PABPC5	140886	genome.wustl.edu	37	chrX	90690906	90690906	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ggagtgggaaatatattcatCaaaaacctggacaaatccat	8	7	2	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:90690906C>G	ENST00000312600.3	+	2	544	c.330C>G	c.(328-330)atC>atG	p.I110M	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ATATATTCATCAAAAACCTGG	0.408																																																	0													68	64	66					X																	90690906		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.330C>G	X.37:g.90690906C>G	ENSP00000308012:p.Ile110Met		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.I110M	ENST00000312600.3	37	c.330	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744698	0.49151	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.21361	2.01	4.43	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.096951	0.64402	D	0.000002	T	0.44787	0.1310	M	0.80616	2.505	0.52501	D	0.999952	D	0.64830	0.994	D	0.75020	0.985	T	0.45381	-0.9265	10	0.87932	D	0	.	9.7427	0.40429	0.0:0.8954:0.0:0.1046	.	110	Q96DU9	PABP5_HUMAN	M	110;78	ENSP00000308012:I110M	ENSP00000308012:I110M	I	+	3	3	PABPC5	90577562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.042000	0.30303	1.213000	0.43380	0.600000	0.82982	ATC	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.408	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	C	NM_080832		90690906	1	no_errors	ENST00000312600	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90690906	C	G	90690906	3	3	97	1	0	0	0	0	1	0	0	0	11391	816	29	1	332	1	PABPC5	23	90690906	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	7370857	90690906	64579654	606	14330										
DIAPH2	1730	genome.wustl.edu	37	chrX	95990784	95990784	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaataaaaactttggcagatGatgtggtaaggtggtcttag	12	3	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:95990784G>A	ENST00000324765.8	+	2	507	c.160G>A	c.(160-162)Gat>Aat	p.D54N	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Missense_Mutation_p.D54N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.D54N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.D54N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	54					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTGGCAGATGATGTGGTAAG	0.284																																																	0													214	194	201					X																	95990784		2202	4297	6499	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.160G>A	X.37:g.95990784G>A	ENSP00000321348:p.Asp54Asn		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.D54N	ENST00000324765.8	37	c.160	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028806	0.93518	.	.	ENSG00000147202	ENST00000373061;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D	0.85258	-1.95;-1.91;-1.91;-1.96	5.78	5.78	0.91487	.	0.409453	0.23539	N	0.047082	D	0.89918	0.6854	L	0.39898	1.24	0.44380	D	0.997285	D;D;P	0.89917	1.0;0.992;0.884	D;P;P	0.87578	0.998;0.856;0.516	D	0.90759	0.4663	10	0.87932	D	0	.	18.5822	0.91176	0.0:0.0:1.0:0.0	.	54;54;54	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	N	54	ENSP00000362152:D54N;ENSP00000348082:D54N;ENSP00000362140:D54N;ENSP00000321348:D54N	ENSP00000321348:D54N	D	+	1	0	DIAPH2	95877440	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.408000	0.90221	2.431000	0.82371	0.594000	0.82650	GAT	DIAPH2	-	NULL		0.284	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	G	NM_006729, NM_007309		95990784	1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95990784	G	A	95990784	3	1	97	1	0	0	0	0	1	0	0	0	4529	1290	45	1	166	1	DIAPH2	23	95990784	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5299878	95990784	59279776	607	14331										
DIAPH2	1730	genome.wustl.edu	37	chrX	96197126	96197126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gattagacatcgatttaactCatctgataggtatgtatcat	7	6	3	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:96197126C>T	ENST00000324765.8	+	13	1782	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y	DIAPH2_ENST00000373054.4_Missense_Mutation_p.H475Y|DIAPH2_ENST00000373061.3_Missense_Mutation_p.H479Y|DIAPH2_ENST00000355827.4_Missense_Mutation_p.H479Y|DIAPH2_ENST00000373049.4_Missense_Mutation_p.H479Y			O60879	DIAP2_HUMAN	diaphanous-related formin 2	479					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGATTTAACTCATCTGATAGG	0.348																																																	0													134	123	127					X																	96197126		2203	4300	6503	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1435C>T	X.37:g.96197126C>T	ENSP00000321348:p.His479Tyr		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.H479Y	ENST00000324765.8	37	c.1435	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792621	0.31685	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.64	5.64	0.86602	Diaphanous FH3 (1);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	L	0.60455	1.87	0.52501	D	0.999954	D;D	0.69078	0.971;0.997	P;D	0.75484	0.865;0.986	T	0.83107	-0.0125	10	0.02654	T	1	.	18.3629	0.90380	0.0:1.0:0.0:0.0	.	479;479	O60879;O60879-2	DIAP2_HUMAN;.	Y	479;475;479;479;479;486	ENSP00000362152:H479Y;ENSP00000362145:H475Y;ENSP00000348082:H479Y;ENSP00000362140:H479Y;ENSP00000321348:H479Y	ENSP00000321348:H479Y	H	+	1	0	DIAPH2	96083782	1.000000	0.71417	0.981000	0.43875	0.003000	0.03518	7.309000	0.78937	2.377000	0.81083	0.594000	0.82650	CAT	DIAPH2	-	pfam_Drf_FH3		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96197126	1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96197126	C	T	96197126	3	4	97	1	0	0	0	0	1	0	0	0	4529	826	29	1	1485	1	DIAPH2	23	96197126	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	206342	96197126	59073434	608	14332										
ZMAT1	84460	genome.wustl.edu	37	chrX	101139182	101139182	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagtttttggctctagtcctCtggctttctgcacttttatg	8	9	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101139182C>G	ENST00000372782.3	-	7	1264	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R235T|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R406T	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	406						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTCTAGTCCTCTGGCTTTCTG	0.413																																																	0													225	213	217					X																	101139182		2203	4300	6503	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1217G>C	X.37:g.101139182C>G	ENSP00000361868:p.Arg406Thr		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.R406T	ENST00000372782.3	37	c.1217	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845387	0.32606	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.59502	0.76;0.76;0.26	4.46	0.541	0.17168	.	0.072502	0.51477	N	0.000082	T	0.47544	0.1451	M	0.79475	2.455	0.44073	D	0.996827	P	0.38535	0.635	B	0.28553	0.091	T	0.42085	-0.9472	10	0.87932	D	0	-3.9128	5.5561	0.17117	0.0:0.5144:0.294:0.1916	.	406	Q5H9K5	ZMAT1_HUMAN	T	406;406;235	ENSP00000361868:R406T;ENSP00000437529:R406T;ENSP00000413044:R235T	ENSP00000361868:R406T	R	-	2	0	ZMAT1	101025838	0.992000	0.36948	0.551000	0.28230	0.880000	0.50808	1.081000	0.30791	-0.034000	0.13713	0.513000	0.50165	AGA	ZMAT1	-	NULL		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	C			101139182	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	0.998	G	G	101139182	C	G	101139182	3	3	97	1	0	0	0	0	1	0	0	0	17721	913	32	1	703	1	ZMAT1	23	101139182	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	4942056	101139182	54131378	609	14333										
GPRASP1	9737	genome.wustl.edu	37	chrX	101910559	101910559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cggagaagaggccaggccagGagctgaagaagagacaatat	15	7	0	5			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101910559G>A	ENST00000361600.5	+	5	2519	c.1718G>A	c.(1717-1719)gGa>gAa	p.G573E	GPRASP1_ENST00000415986.1_Missense_Mutation_p.G573E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G573E|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G573E	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	573	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAGGCCAGGAGCTGAAGAA	0.502																																																	0													89	97	95					X																	101910559		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1718G>A	X.37:g.101910559G>A	ENSP00000355146:p.Gly573Glu		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.G573E	ENST00000361600.5	37	c.1718	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	6.398	0.441513	0.12164	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	2.49	-4.74	0.03249	.	.	.	.	.	T	0.01661	0.0053	N	0.00841	-1.15	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.34254	-0.9836	9	0.02654	T	1	.	4.8192	0.13381	0.4797:0.3089:0.2114:0.0	.	573	Q5JY77	GASP1_HUMAN	E	573	ENSP00000393691:G573E;ENSP00000409420:G573E;ENSP00000355146:G573E;ENSP00000445683:G573E	ENSP00000355146:G573E	G	+	2	0	GPRASP1	101797215	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-1.471000	0.02344	-1.755000	0.01320	0.519000	0.50382	GGA	GPRASP1	-	NULL		0.502	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	G	NM_014710		101910559	1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.000	A	A	101910559	G	A	101910559	3	1	97	1	0	0	0	0	1	0	0	0	6742	1174	41	1	1720	1	GPRASP1	23	101910559	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	771377	101910559	53360001	610	14334										
GPRASP2	114928	genome.wustl.edu	37	chrX	101970441	101970441	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	ctattccaggcccagggccaGagaggaggcctctaatgagt	13	11	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101970441G>C	ENST00000535209.1	+	4	1475	c.644G>C	c.(643-645)aGa>aCa	p.R215T	GPRASP2_ENST00000543253.1_Missense_Mutation_p.R215T|GPRASP2_ENST00000332262.5_Missense_Mutation_p.R215T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	215						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCCAGGGCCAGAGAGGAGGCC	0.552																																																	0													100	109	106					X																	101970441		2203	4300	6503	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.644G>C	X.37:g.101970441G>C	ENSP00000437394:p.Arg215Thr		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R215T	ENST00000535209.1	37	c.644	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497778	0.12762	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.09350	2.99;2.99;2.99	4.39	2.51	0.30379	.	0.149074	0.32548	N	0.005957	T	0.09468	0.0233	L	0.44542	1.39	0.31891	N	0.617152	P	0.44877	0.845	B	0.41860	0.368	T	0.13415	-1.0510	10	0.32370	T	0.25	.	7.352	0.26697	0.2534:0.0:0.7466:0.0	.	215	Q96D09	GASP2_HUMAN	T	215	ENSP00000437872:R215T;ENSP00000437394:R215T;ENSP00000339057:R215T	ENSP00000339057:R215T	R	+	2	0	GPRASP2	101857097	0.983000	0.35010	0.602000	0.28890	0.005000	0.04900	2.809000	0.47971	0.519000	0.28406	-0.192000	0.12808	AGA	GPRASP2	-	NULL		0.552	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	G	NM_138437		101970441	1	no_errors	ENST00000332262	ensembl	human	known	70_37	missense	SNP	0.991	C	C	101970441	G	C	101970441	3	2	97	1	0	0	0	0	1	0	0	0	6743	942	33	1	646	1	GPRASP2	23	101970441	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	59882	101970441	53300119	611	14335										
GLRA4	441509	genome.wustl.edu	37	chrX	102968492	102968492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tcgaagtcgtatgaattcttTatgctgacgagaaacaaaat	8	6	1	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:102968492T>C	ENST00000372617.4	-	8	1459	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	TMEM31_ENST00000319560.6_Intron	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	347						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATGAATTCTTTATGCTGACGA	0.507																																																	0													86	81	83					X																	102968492		2203	4300	6503	SO:0001583	missense	441509			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1039A>G	X.37:g.102968492T>C	ENSP00000361700:p.Lys347Glu			Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.K347E	ENST00000372617.4	37	c.1039	CCDS43980.2	X	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753708	0.89753	.	.	ENSG00000188828	ENST00000372617	D	0.86164	-2.08	5.66	5.66	0.87406	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.095385	0.64402	D	0.000001	D	0.89853	0.6835	L	0.56396	1.775	0.80722	D	1	B	0.31859	0.343	P	0.50049	0.629	D	0.86484	0.1793	10	0.22706	T	0.39	.	12.6879	0.56958	0.0:0.0:0.0:1.0	.	347	Q5JXX5	GLRA4_HUMAN	E	347	ENSP00000361700:K347E	ENSP00000361700:K347E	K	-	1	0	GLRA4	102855148	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	1.902000	0.55061	0.425000	0.28330	AAA	GLRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A,tigrfam_Neur_channel		0.507	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	HGNC	protein_coding	OTTHUMT00000057742.2	T	NM_001024452		102968492	-1	no_errors	ENST00000372617	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102968492	T	C	102968492	3	2	97	1	0	0	0	0	1	0	0	0	6476	1763	61	5	221	5	GLRA4	23	102968492	Missense_Mutation	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	998051	102968492	52302068	612	14336										
NRK	203447	genome.wustl.edu	37	chrX	105168893	105168893	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aagaggcagtgagggtgatgGaggtaagggagtcgttcgaa	19	3	0	3	rs376619055		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:105168893G>C	ENST00000243300.9	+	19	3485	c.3182G>C	c.(3181-3183)gGa>gCa	p.G1061A	NRK_ENST00000428173.2_Missense_Mutation_p.G1062A	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1061					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGGGTGATGGAGGTAAGGGA	0.502										HNSCC(51;0.14)																																							0													141	130	134					X																	105168893		2071	4175	6246	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3182G>C	X.37:g.105168893G>C	ENSP00000434830:p.Gly1061Ala		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.G1062A	ENST00000243300.9	37	c.3185		X	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048368	0.19827	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76968	-1.04;-1.06	3.89	1.13	0.20643	.	0.537084	0.15731	N	0.247437	T	0.59636	0.2208	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.18263	0.021;0.001	T	0.51044	-0.8755	10	0.62326	D	0.03	.	3.5301	0.07773	0.2464:0.2086:0.545:0.0	.	729;1061	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	A	1061;1062	ENSP00000434830:G1061A;ENSP00000438378:G1062A	ENSP00000434830:G1061A	G	+	2	0	NRK	105055549	0.020000	0.18652	0.000000	0.03702	0.005000	0.04900	0.210000	0.17455	0.098000	0.17522	-0.229000	0.12294	GGA	NRK	-	NULL		0.502	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	G	NM_198465		105168893	1	no_errors	ENST00000428173	ensembl	human	known	70_37	missense	SNP	0.000	C	C	105168893	G	C	105168893	3	2	97	1	0	0	0	0	1	0	0	0	10679	1174	41	1	3256	1	NRK	23	105168893	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	2200401	105168893	50101667	613	14337										
ALG13	79868	genome.wustl.edu	37	chrX	111003067	111003067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tttgccaggttttgactcctGccttccggttgtgccagatt	10	11	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:111003067G>T	ENST00000394780.3	+	27	3266	c.3254G>T	c.(3253-3255)tGc>tTc	p.C1085F	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.C902F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1085					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TTTGACTCCTGCCTTCCGGTT	0.483																																																	0													113	85	94					X																	111003067		1568	3582	5150	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3254G>T	X.37:g.111003067G>T	ENSP00000378260:p.Cys1085Phe		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.C902F	ENST00000394780.3	37	c.2705	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	g	3.821	-0.037719	0.07497	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.58940	1.35;0.3	5.8	4.0	0.46444	.	0.182174	0.49916	D	0.000126	T	0.58264	0.2110	L	0.53249	1.67	0.29993	N	0.816737	D;P;P	0.55605	0.972;0.926;0.903	P;P;P	0.52159	0.691;0.454;0.51	T	0.55509	-0.8130	10	0.15066	T	0.55	-0.6704	11.2748	0.49161	0.1572:0.0:0.8428:0.0	.	1007;1085;902	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	F	902;1085;639	ENSP00000251943:C902F;ENSP00000378260:C1085F	ENSP00000251943:C902F	C	+	2	0	ALG13	110889723	0.998000	0.40836	0.808000	0.32385	0.062000	0.15995	1.882000	0.39648	1.197000	0.43143	0.597000	0.82753	TGC	ALG13	-	NULL		0.483	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		111003067	1	no_errors	ENST00000251943	ensembl	human	known	70_37	missense	SNP	0.937	T	T	111003067	G	T	111003067	3	4	97	1	0	0	0	0	1	0	0	0	515	1319	46	4	3502	4	ALG13	23	111003067	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	5834174	111003067	44267493	614	14338										
NKAP	79576	genome.wustl.edu	37	chrX	119059328	119059328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tgtagatctggttctcttttCgcagtcgcacagcctccatt	8	12	2	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:119059328C>T	ENST00000371410.3	-	9	1269	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	AC002477.1_ENST00000581061.1_RNA|NKAP_ENST00000477789.1_5'UTR|RP3-327A19.5_ENST00000455986.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	368	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R368Q(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTCTTTTCGCAGTCGCAC	0.408																																																	1	Substitution - Missense(1)	endometrium(1)											128	115	120					X																	119059328		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1103G>A	X.37:g.119059328C>T	ENSP00000360464:p.Arg368Gln		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.R368Q	ENST00000371410.3	37	c.1103	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.623817	0.96660	.	.	ENSG00000101882	ENST00000371410	T	0.38401	1.14	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76708	-0.2860	10	0.72032	D	0.01	-1.9081	17.8402	0.88713	0.0:1.0:0.0:0.0	.	368	Q8N5F7	NKAP_HUMAN	Q	368	ENSP00000360464:R368Q	ENSP00000360464:R368Q	R	-	2	0	NKAP	118943356	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	7.759000	0.85235	2.432000	0.82394	0.600000	0.82982	CGA	NKAP	-	pfam_DUF926		0.408	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	C	NM_024528		119059328	-1	no_errors	ENST00000371410	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119059328	C	T	119059328	3	4	97	1	0	0	0	0	1	0	0	0	10463	884	31	1	148	1	NKAP	23	119059328	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	8056261	119059328	36211232	615	14339										
GPC3	2719	genome.wustl.edu	37	chrX	132833993	132833993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tactttcttgtcaataaagaGatcttcaggataataagcag	7	6	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:132833993G>A	ENST00000370818.3	-	4	1541	c.1096C>T	c.(1096-1098)Ctc>Ttc	p.L366F	GPC3_ENST00000543339.1_Missense_Mutation_p.L312F|GPC3_ENST00000394299.2_Missense_Mutation_p.L389F	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													77	72	74					X																	132833993		2203	4296	6499	SO:0001583	missense	2719	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1096C>T	X.37:g.132833993G>A	ENSP00000359854:p.Leu366Phe		C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	pfam_Glypican	p.L389F	ENST00000370818.3	37	c.1165	CCDS14638.1	X	.	.	.	.	.	.	.	.	.	.	G	5.376	0.254615	0.10185	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50277	0.75;0.75;0.75	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.24353	0.0590	N	0.12182	0.205	0.31273	N	0.691508	B;B;B;B	0.13145	0.005;0.007;0.002;0.003	B;B;B;B	0.15052	0.012;0.009;0.012;0.012	T	0.22208	-1.0223	10	0.09590	T	0.72	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	F	366;389;312	ENSP00000359854:L366F;ENSP00000377836:L389F;ENSP00000444222:L312F	ENSP00000359854:L366F	L	-	1	0	GPC3	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC	GPC3	-	pfam_Glypican		0.333	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	G	NM_004484		132833993	-1	no_errors	ENST00000394299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132833993	G	A	132833993	3	1	97	1	0	0	0	0	1	0	0	0	6618	942	33	1	666	1	GPC3	23	132833993	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	13774665	132833993	22436567	616	14340										
DDX26B	203522	genome.wustl.edu	37	chrX	134681106	134681106	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	aaagaatgttgaatcaatgtTtagaatctctagttcaaaaa	6	4	3	3			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:134681106T>C	ENST00000370752.4	+	6	992	c.658T>C	c.(658-660)Tta>Cta	p.L220L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	220	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAATCAATGTTTAGAATCTCT	0.323																																																	0													140	141	141					X																	134681106		2203	4297	6500	SO:0001819	synonymous_variant	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.658T>C	X.37:g.134681106T>C			Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	pfscan_VWF_A	p.L220	ENST00000370752.4	37	c.658	CCDS35401.1	X																																																																																			DDX26B	-	pfscan_VWF_A		0.323	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	T	NM_182540		134681106	1	no_errors	ENST00000370752	ensembl	human	known	70_37	silent	SNP	1.000	C	C	134681106	T	C	134681106	2	2	97	1	0	0	0	0	0	0	0	1	4358	1838	64	5		5	DDX26B	23	134681106	Silent	SNP	T	TCGA-EK-A2PG-01A-11D-A18J-09	1847113	134681106	20589454	617	14341										
GPR112	139378	genome.wustl.edu	37	chrX	135431678	135431678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	taaagatgtcatggcaatgtCatcaattcctatgtcaggaa	8	7	4	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:135431678C>T	ENST00000394143.1	+	6	6104	c.5813C>T	c.(5812-5814)tCa>tTa	p.S1938L	GPR112_ENST00000287534.4_Missense_Mutation_p.S1875L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1733L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1733L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1938L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1938					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGGCAATGTCATCAATTCCT	0.423																																																	0													127	120	123					X																	135431678		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5813C>T	X.37:g.135431678C>T	ENSP00000377699:p.Ser1938Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1938L	ENST00000394143.1	37	c.5813	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	10.52	1.372447	0.24857	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34667	1.39;1.39;1.35;1.49;1.35	3.94	3.07	0.35406	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.09310	N	1	B;B;P	0.43477	0.123;0.123;0.808	B;B;B	0.33295	0.038;0.038;0.161	T	0.06144	-1.0843	9	0.29301	T	0.29	.	7.2634	0.26216	0.0:0.867:0.0:0.133	.	1875;1733;1938	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1938;1938;1733;1875;1733	ENSP00000377699:S1938L;ENSP00000359686:S1938L;ENSP00000416526:S1733L;ENSP00000287534:S1875L;ENSP00000377697:S1733L	ENSP00000287534:S1875L	S	+	2	0	GPR112	135259344	0.180000	0.23148	0.027000	0.17364	0.065000	0.16274	1.969000	0.40510	0.629000	0.30376	0.530000	0.56133	TCA	GPR112	-	NULL		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135431678	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.023	T	T	135431678	C	T	135431678	3	4	97	1	0	0	0	0	1	0	0	0	6648	838	29	1	5823	1	GPR112	23	135431678	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	750572	135431678	19838882	618	14342										
SOX3	6658	genome.wustl.edu	37	chrX	139586773	139586773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	gccattttgcgccgctgcccGcgggaccataccatgaaggc	12	15	0	1			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:139586773G>A	ENST00000370536.2	-	1	452	c.453C>T	c.(451-453)cgC>cgT	p.R151R		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	151					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCGCTGCCCGCGGGACCATA	0.647																																																	0													45	46	46					X																	139586773		2203	4300	6503	SO:0001819	synonymous_variant	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.453C>T	X.37:g.139586773G>A			P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R151	ENST00000370536.2	37	c.453	CCDS14669.1	X																																																																																			SOX3	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.647	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	G			139586773	-1	no_errors	ENST00000370536	ensembl	human	known	70_37	silent	SNP	0.942	A	A	139586773	G	A	139586773	2	1	97	1	0	0	0	0	0	0	0	1	14981	1074	38	2		2	SOX3	23	139586773	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	4155095	139586773	15683787	619	14343										
MAGEA3	4102	genome.wustl.edu	37	chrX	151935275	151935275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	caggggtgggtaggaaatgtGaggtcctccactgatcttta	14	7	1	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:151935275G>A	ENST00000393902.3	-	3	1459	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	MAGEA3_ENST00000370278.3_Missense_Mutation_p.H298Y			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	298	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAAATGTGAGGTCCTCCA	0.552																																																	0													158	151	153					X																	151935275		2202	4295	6497	SO:0001583	missense	4102				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.892C>T	X.37:g.151935275G>A	ENSP00000377480:p.His298Tyr		Q6FHI6	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.H298Y	ENST00000393902.3	37	c.892	CCDS14715.1	X	.	.	.	.	.	.	.	.	.	.	g	5.706	0.314767	0.10789	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.01599	4.74;4.74	1.42	0.488	0.16848	.	0.239718	0.43110	D	0.000619	T	0.01940	0.0061	L	0.50333	1.59	0.09310	N	1	B	0.20780	0.048	B	0.24006	0.05	T	0.42498	-0.9448	10	0.72032	D	0.01	.	3.3197	0.07045	0.2997:0.0:0.7003:0.0	.	298	P43357	MAGA3_HUMAN	Y	298	ENSP00000359301:H298Y;ENSP00000377480:H298Y	ENSP00000359301:H298Y	H	-	1	0	MAGEA3	151685931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.275000	0.18698	0.095000	0.17434	0.358000	0.22013	CAC	MAGEA3	-	pfscan_MAGE		0.552	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA3	HGNC	protein_coding	OTTHUMT00000058744.1	G	NM_005362		151935275	-1	no_errors	ENST00000370278	ensembl	human	known	70_37	missense	SNP	0.000	A	A	151935275	G	A	151935275	3	1	97	1	0	0	0	0	1	0	0	0	9190	1290	45	1	56	1	MAGEA3	23	151935275	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	12348502	151935275	3335285	620	14344										
PLXNB3	5365	genome.wustl.edu	37	chrX	153038720	153038720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	tccggaggccatcgtgtgccGtaccaggccccaggctgccc	13	17	0	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:153038720G>A	ENST00000361971.5	+	18	3056	c.2942G>A	c.(2941-2943)cGt>cAt	p.R981H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R634H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R591H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1004H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	981	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTGTGCCGTACCAGGCCC	0.667													g|||	1	0.000264901	0	0	3775	,	,		12913	0		0.001	False		,,,				2504	0																0													47	38	41					X																	153038720		2197	4294	6491	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2942G>A	X.37:g.153038720G>A	ENSP00000355378:p.Arg981His		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1004H	ENST00000361971.5	37	c.3011	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752219	0.15778	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.94	0.578	0.17391	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.594745	0.17405	N	0.175419	T	0.54319	0.1851	N	0.16201	0.385	0.23528	N	0.99749	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.32771	-0.9894	10	0.27082	T	0.32	.	4.3013	0.10925	0.3146:0.0:0.5321:0.1534	.	634;1004;981	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1004;981;634;591	ENSP00000442736:R1004H;ENSP00000355378:R981H;ENSP00000445569:R634H;ENSP00000441919:R591H	ENSP00000355378:R981H	R	+	2	0	PLXNB3	152691914	0.487000	0.25988	0.990000	0.47175	0.003000	0.03518	-0.029000	0.12329	-0.029000	0.13827	-0.397000	0.06425	CGT	PLXNB3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.667	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	G			153038720	1	no_errors	ENST00000538966	ensembl	human	known	70_37	missense	SNP	0.712	A	A	153038720	G	A	153038720	3	1	97	1	0	0	0	0	1	0	0	0	12149	1145	40	2	3126	2	PLXNB3	23	153038720	Missense_Mutation	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	1103445	153038720	2231840	621	14345										
AVPR2	554	genome.wustl.edu	37	chrX	153171491	153171491	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	agcctgccccagctcttcatCttcgcccagcgcaacgtgga	9	17	3	0			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:153171491C>G	ENST00000358927.2	+	3	740	c.531C>G	c.(529-531)atC>atG	p.I177M	AVPR2_ENST00000370049.1_Missense_Mutation_p.I177M|AVPR2_ENST00000337474.5_Missense_Mutation_p.I177M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	177					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGCTCTTCATCTTCGCCCAGC	0.657																																																	0													47	38	41					X																	153171491		2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.531C>G	X.37:g.153171491C>G	ENSP00000351805:p.Ile177Met		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.I177M	ENST00000358927.2	37	c.531	CCDS14735.1	X	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233810	0.05983	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86364	0.5915	H	0.96239	3.79	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86928	0.2071	10	0.87932	D	0	-26.5873	5.9693	0.19342	0.0:0.7528:0.0:0.2472	.	177;177	P30518-2;P30518	.;V2R_HUMAN	M	177	ENSP00000351805:I177M;ENSP00000393513:I177M;ENSP00000338072:I177M;ENSP00000359066:I177M	ENSP00000338072:I177M	I	+	3	3	AVPR2	152824685	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	0.893000	0.28336	1.802000	0.52723	0.263000	0.19301	ATC	AVPR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.657	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	HGNC	protein_coding	OTTHUMT00000061127.2	C			153171491	1	no_errors	ENST00000337474	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153171491	C	G	153171491	3	3	97	1	0	0	0	0	1	0	0	0	1234	903	32	1	537	1	AVPR2	23	153171491	Missense_Mutation	SNP	C	TCGA-EK-A2PG-01A-11D-A18J-09	132771	153171491	2099069	622	14346										
FAM50A	9130	genome.wustl.edu	37	chrX	153674233	153674233	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.512155591572123	316	3.35527536637618e-113	3.96137732390678	5.00295575896262	3.4169158692185	0.00173393232053768	0.0105119646932597	236	cgggagaagcagctggccaaGaaggagcagtccaaggagct	16	9	0	2			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:153674233G>A	ENST00000393600.3	+	3	380	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	90					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTGGCCAAGAAGGAGCAGT	0.597																																																	0													61	54	56					X																	153674233		2203	4299	6502	SO:0001819	synonymous_variant	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.270G>A	X.37:g.153674233G>A			A8KAQ4|B2R997|Q5HY37|Q6PJH5	Silent	SNP	pfam_XAP5	p.K90	ENST00000393600.3	37	c.270	CCDS14751.1	X																																																																																			FAM50A	-	NULL		0.597	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	G	NM_004699		153674233	1	no_errors	ENST00000393600	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153674233	G	A	153674233	2	1	97	1	0	0	0	0	0	0	0	1	5595	933	33	1		1	FAM50A	23	153674233	Silent	SNP	G	TCGA-EK-A2PG-01A-11D-A18J-09	502742	153674233	1596327	623	14347										
KIF1B	23095	genome.wustl.edu	37	chr1	10421080	10421080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tatggagaaaagatctacatGaccttgtcggcctacctaga	9	9	1	4			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:10421080G>A	ENST00000377086.1	+	39	4351	c.4149G>A	c.(4147-4149)atG>atA	p.M1383I	KIF1B_ENST00000377081.1_Missense_Mutation_p.M1383I|KIF1B_ENST00000263934.6_Missense_Mutation_p.M1337I|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1383					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATCTACATGACCTTGTCGG	0.512																																																	0													169	140	150					1																	10421080		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4149G>A	1.37:g.10421080G>A	ENSP00000366290:p.Met1383Ile		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1337I	ENST00000377086.1	37	c.4011		1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684358	0.68157	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71698	-0.51;-0.59;-0.59	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;P	0.39044	0.003;0.028;0.005;0.024;0.009;0.656	B;B;B;B;B;P	0.51777	0.016;0.027;0.011;0.034;0.007;0.679	T	0.63084	-0.6716	10	0.16896	T	0.51	.	19.9225	0.97093	0.0:0.0:1.0:0.0	.	1369;1343;1383;1357;1383;1337	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1383;1337;1383;1383	ENSP00000263934:M1337I;ENSP00000366290:M1383I;ENSP00000366284:M1383I	ENSP00000263934:M1337I	M	+	3	0	KIF1B	10343667	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.780000	0.95670	0.655000	0.94253	ATG	KIF1B	-	pfam_Kinesin-like		0.512	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10421080	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10421080	G	A	10421080	3	1	98	1	0	0	0	0	1	0	0	0	8304	1290	45	1	5642	1	KIF1B	1	10421080	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		10421080	238829541	1	14348										
CROCC	9696	genome.wustl.edu	37	chr1	17292290	17292290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ccagccaccatctccaggacCtgccacctccccagcctctc	5	23	2	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:17292290C>T	ENST00000375541.5	+	28	4547	c.4478C>T	c.(4477-4479)cCt>cTt	p.P1493L		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCTCCAGGACCTGCCACCTCC	0.632																																																	0													35	39	37					1																	17292290		2202	4297	6499	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4478C>T	1.37:g.17292290C>T	ENSP00000364691:p.Pro1493Leu			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.P1493L	ENST00000375541.5	37	c.4478	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967209	0.34754	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.44083	0.93	4.27	3.33	0.38152	.	.	.	.	.	T	0.28665	0.0710	L	0.34521	1.04	0.40311	D	0.978716	P;B	0.35745	0.518;0.202	B;B	0.32533	0.147;0.094	T	0.05435	-1.0885	9	0.25751	T	0.34	.	10.6405	0.45590	0.0:0.9002:0.0:0.0998	.	796;1493	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	L	1493;1374	ENSP00000364691:P1493L	ENSP00000364691:P1493L	P	+	2	0	CROCC	17164877	.	.	0.877000	0.34402	0.712000	0.41017	.	.	0.870000	0.35726	0.579000	0.79373	CCT	CROCC	-	NULL		0.632	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	C	NM_014675		17292290	1	no_errors	ENST00000375541	ensembl	human	known	70_37	missense	SNP	0.983	T	T	17292290	C	T	17292290	3	4	98	1	0	0	0	0	1	0	0	0	3898	681	24	4	4588	4	CROCC	1	17292290	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	6871210	17292290	231958331	2	14349										
FAF1	11124	genome.wustl.edu	37	chr1	51204625	51204625	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	agtgtagagattttaggaccGtctgaaaaagaaaaaacaca	9	5	1	3	rs140506622		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:51204625G>T	ENST00000396153.2	-	6	912	c.461C>A	c.(460-462)aCg>aAg	p.T154K	FAF1_ENST00000371778.4_Splice_Site_p.T154K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	154					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTTTAGGACCGTCTGAAAAAG	0.318																																																	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)											121	116	118					1																	51204625		2203	4300	6503	SO:0001630	splice_region_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.460-1C>A	1.37:g.51204625G>T			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.T154K	ENST00000396153.2	37	c.461	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879328	0.72294	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.81	2.95	0.34219	.	0.158124	0.56097	D	0.000027	T	0.68760	0.3036	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.67995	-0.5526	9	0.66056	D	0.02	-20.3236	10.1307	0.42676	0.2189:0.0:0.7811:0.0	.	154	Q9UNN5	FAF1_HUMAN	K	154;154;146;154	.	ENSP00000360843:T154K	T	-	2	0	FAF1	50977213	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	2.565000	0.45939	0.375000	0.24679	0.655000	0.94253	ACG	FAF1	-	NULL		0.318	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	G	NM_007051	Missense_Mutation	51204625	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51204625	G	T	51204625	5	4	98	1	0	0	0	0	0	0	1	0	5384	1159	40	2	1547	2	FAF1	1	51204625	Splice_Site	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	33912335	51204625	198045996	3	14350										
DNAJC6	9829	genome.wustl.edu	37	chr1	65831791	65831791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gaatcaggttgatgacattcGaagctttttggattccagac	10	7	1	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:65831791G>A	ENST00000395325.3	+	4	441	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R152Q|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R82Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	95	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GATGACATTCGAAGCTTTTTG	0.408																																																	0													212	201	205					1																	65831791		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.284G>A	1.37:g.65831791G>A	ENSP00000378735:p.Arg95Gln		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.R152Q	ENST00000395325.3	37	c.455	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.683667	0.96774	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98550	-4.99;-4.99;-4.99	5.51	5.51	0.81932	Phosphatase tensin type (1);	0.065516	0.64402	D	0.000009	D	0.97657	0.9232	N	0.26092	0.79	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	P;B;D	0.81914	0.774;0.429;0.995	D	0.97603	1.0124	10	0.36615	T	0.2	.	19.4309	0.94765	0.0:0.0:1.0:0.0	.	152;95;82	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Q	82;95;152	ENSP00000263441:R82Q;ENSP00000378735:R95Q;ENSP00000360108:R152Q	ENSP00000263441:R82Q	R	+	2	0	DNAJC6	65604379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.188000	0.94921	2.595000	0.87683	0.563000	0.77884	CGA	DNAJC6	-	pfscan_Phosphatase_tensin-typ		0.408	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	G			65831791	1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65831791	G	A	65831791	3	1	98	1	0	0	0	0	1	0	0	0	4663	1058	37	1	298	1	DNAJC6	1	65831791	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	14627166	65831791	183418830	4	14351										
FAM73A	374986	genome.wustl.edu	37	chr1	78245381	78245381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gccaggcatcagctgggaagCtggcgtgggcaggccagctg	18	11	1	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:78245381C>T	ENST00000370791.3	+	1	73	c.41C>T	c.(40-42)gCt>gTt	p.A14V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A14V|RNA5SP21_ENST00000410917.1_RNA	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	14						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGCTGGGAAGCTGGCGTGGGC	0.677																																																	0													7	7	7					1																	78245381		2178	4255	6433	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.41C>T	1.37:g.78245381C>T	ENSP00000359827:p.Ala14Val		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.A14V	ENST00000370791.3	37	c.41	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794733	0.50102	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.32023	1.88;1.47	4.46	2.56	0.30785	.	0.648204	0.12744	N	0.442743	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.32079	-0.9920	10	0.87932	D	0	-0.2691	6.3066	0.21141	0.0:0.7775:0.0:0.2225	.	14;14;14	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	14	ENSP00000359827:A14V;ENSP00000393675:A14V	ENSP00000359827:A14V	A	+	2	0	FAM73A	78017969	0.001000	0.12720	0.050000	0.19076	0.023000	0.10783	-0.407000	0.07178	1.181000	0.42912	0.650000	0.86243	GCT	FAM73A	-	NULL		0.677	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	C	NM_198549		78245381	1	no_errors	ENST00000370791	ensembl	human	known	70_37	missense	SNP	0.047	T	T	78245381	C	T	78245381	3	4	98	1	0	0	0	0	1	0	0	0	5635	797	28	4	43	4	FAM73A	1	78245381	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	12413590	78245381	171005240	5	14352										
RRP15	51018	genome.wustl.edu	37	chr1	218475649	218475649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tctataggaagctgtggatcGgaaaaggaccacttttattc	10	7	1	0	rs145914864	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:218475649G>A	ENST00000366932.3	+	2	183	c.153G>A	c.(151-153)tcG>tcA	p.S51S	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	51						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GCTGTGGATCGGAAAAGGACC	0.453																																																	0													116	118	117					1																	218475649		2203	4300	6503	SO:0001819	synonymous_variant	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.153G>A	1.37:g.218475649G>A				Silent	SNP	pfam_DUF1665	p.S51	ENST00000366932.3	37	c.153	CCDS1520.2	1																																																																																			RRP15	-	NULL		0.453	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	G	NM_016052		218475649	1	no_errors	ENST00000366932	ensembl	human	known	70_37	silent	SNP	0.000	A	A	218475649	G	A	218475649	2	1	98	1	0	0	0	0	0	0	0	1	13717	1103	39	2		2	RRP15	1	218475649	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	140230268	218475649	30774972	6	14353										
TRIM67	440730	genome.wustl.edu	37	chr1	231334860	231334860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ccttgtggatgctttaactcGtcagaaagccaagctgctca	9	11	2	1	rs372931843		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:231334860G>A	ENST00000366653.5	+	3	1208	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	TRIM67_ENST00000449018.3_Missense_Mutation_p.R341H|TRIM67_ENST00000366652.2_Missense_Mutation_p.R403H|TRIM67_ENST00000444294.3_Missense_Mutation_p.R403H			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	403					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCTTTAACTCGTCAGAAAGCC	0.532																																																	0								G	HIS/ARG	0,4038		0,0,2019	137	144	142		1208	5.6	1	1		142	1,8345		0,1,4172	no	missense	TRIM67	NM_001004342.3	29	0,1,6191	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	403/784	231334860	1,12383	2019	4173	6192	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1208G>A	1.37:g.231334860G>A	ENSP00000355613:p.Arg403His		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.R403H	ENST00000366653.5	37	c.1208	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.387131	0.95988	0.0	1.2E-4	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70869	-0.52;-0.43;-0.46;-0.52	5.61	5.61	0.85477	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	L	0.48362	1.52	0.80722	D	1	P	0.41546	0.754	B	0.34722	0.188	T	0.70550	-0.4841	10	0.62326	D	0.03	.	19.6258	0.95677	0.0:0.0:1.0:0.0	.	403	Q6ZTA4	TRI67_HUMAN	H	403;403;341;403	ENSP00000412124:R403H;ENSP00000355612:R403H;ENSP00000400163:R341H;ENSP00000355613:R403H	ENSP00000355612:R403H	R	+	2	0	TRIM67	229401483	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	9.471000	0.97696	2.638000	0.89438	0.561000	0.74099	CGT	TRIM67	-	smart_Bbox_C		0.532	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231334860	1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	1.000	A	A	231334860	G	A	231334860	3	1	98	1	0	0	0	0	1	0	0	0	16571	1145	40	2	1218	2	TRIM67	1	231334860	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	12859211	231334860	17915761	7	14354										
C2orf43	60526	genome.wustl.edu	37	chr2	20901381	20901381	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tctctcttcaccacctccatCatttcttggcccccaaggta	4	17	5	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:20901381C>T	ENST00000237822.3	-	6	814	c.735G>A	c.(733-735)atG>atA	p.M245I	C2orf43_ENST00000381090.3_Missense_Mutation_p.M245I|C2orf43_ENST00000435420.2_Missense_Mutation_p.M197I|C2orf43_ENST00000403006.2_Missense_Mutation_p.M115I|C2orf43_ENST00000541941.1_Missense_Mutation_p.M115I|C2orf43_ENST00000440866.2_Silent_p.*167*	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	245										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTCCATCATTTCTTGGC	0.343																																																	0													263	257	259					2																	20901381		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.735G>A	2.37:g.20901381C>T	ENSP00000237822:p.Met245Ile		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.M245I	ENST00000237822.3	37	c.735	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962871	0.74016	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.39997	1.05;1.64;1.05	5.2	4.32	0.51571	.	0.039808	0.85682	D	0.000000	T	0.61800	0.2376	M	0.79693	2.465	0.80722	D	1	D;B;D;D	0.63880	0.989;0.01;0.993;0.986	D;B;D;D	0.67725	0.927;0.026;0.953;0.927	T	0.64592	-0.6371	10	0.51188	T	0.08	-29.1387	10.2277	0.43236	0.0:0.9065:0.0:0.0935	.	203;197;245;245	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	I	115;245;245;197;115;115	ENSP00000384267:M115I;ENSP00000388635:M197I;ENSP00000440570:M115I	ENSP00000237822:M245I	M	-	3	0	C2orf43	20764862	0.998000	0.40836	0.966000	0.40874	0.993000	0.82548	3.839000	0.55835	1.521000	0.48983	0.655000	0.94253	ATG	C2orf43	-	pfam_DUF2305		0.343	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	C	NM_021925		20901381	-1	no_errors	ENST00000237822	ensembl	human	known	70_37	missense	SNP	0.986	T	T	20901381	C	T	20901381	3	4	98	1	0	0	0	0	1	0	0	0	2172	826	29	1	250	1	C2orf43	2	20901381	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		20901381	222297992	8	14355										
FAM176A	84141	genome.wustl.edu	37	chr2	75720424	75720424	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctggccattcatccagatctCcctgatgatgcgctcgcgct	9	15	2	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:75720424C>G	ENST00000233712.1	-	4	834	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	EVA1A_ENST00000410113.1_Missense_Mutation_p.E133Q|EVA1A_ENST00000393913.3_Missense_Mutation_p.E133Q|EVA1A_ENST00000410010.1_Missense_Mutation_p.E121Q|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410071.1_Missense_Mutation_p.E133Q	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	133					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											ATCCAGATCTCCCTGATGATG	0.627																																																	0													44	50	48					2																	75720424		2203	4300	6503	SO:0001583	missense	84141			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.397G>C	2.37:g.75720424C>G	ENSP00000233712:p.Glu133Gln		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.E133Q	ENST00000233712.1	37	c.397	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882087	0.91740	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.79	4.79	0.61399	.	0.102991	0.64402	D	0.000001	T	0.82135	0.4971	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85769	0.1354	10	0.87932	D	0	-14.9002	16.1387	0.81509	0.0:1.0:0.0:0.0	.	133	Q9H8M9	F176A_HUMAN	Q	133;133;133;121;133;133	ENSP00000377490:E133Q;ENSP00000233712:E133Q;ENSP00000386435:E133Q;ENSP00000386835:E121Q;ENSP00000386930:E133Q;ENSP00000398249:E133Q	ENSP00000233712:E133Q	E	-	1	0	FAM176A	75573932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.729000	0.84864	2.573000	0.86826	0.655000	0.94253	GAG	EVA1A	-	NULL		0.627	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	C	NM_032181		75720424	-1	no_errors	ENST00000233712	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75720424	C	G	75720424	3	3	98	1	0	0	0	0	1	0	0	0	5514	864	30	1	65	1	FAM176A	2	75720424	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	54819043	75720424	167478949	9	14356										
DNAH6	1768	genome.wustl.edu	37	chr2	84821167	84821167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctcaaacaattgctctgggaTtctttctctgaatgggataa	8	8	4	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:84821167T>C	ENST00000237449.6	+	16	2690	c.2682T>C	c.(2680-2682)gaT>gaC	p.D894D	DNAH6_ENST00000398278.2_Silent_p.D894D|DNAH6_ENST00000389394.3_Silent_p.D894D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	894	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGCTCTGGGATTCTTTCTCTG	0.338																																																	0													98	95	96					2																	84821167		692	1591	2283	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2682T>C	2.37:g.84821167T>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D894	ENST00000237449.6	37	c.2682	CCDS46348.1	2																																																																																			DNAH6	-	pfam_Dynein_heavy_dom-2		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	T	NM_001370		84821167	1	no_errors	ENST00000237449	ensembl	human	known	70_37	silent	SNP	1.000	C	C	84821167	T	C	84821167	2	2	98	1	0	0	0	0	0	0	0	1	4615	1490	52	5		5	DNAH6	2	84821167	Silent	SNP	T	TCGA-EK-A2PI-01A-11D-A18J-09	9100743	84821167	158378206	10	14357										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098816	178098816	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aaattcacctgtctcttcatCtagttgtaactgagcgaaaa	6	9	4	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:178098816C>G	ENST00000397062.3	-	2	783	c.229G>C	c.(229-231)Gat>Cat	p.D77H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D61H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D61H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D61H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D61H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	77					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D77N(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GTCTCTTCATCTAGTTGTAAC	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											153	149	150					2																	178098816		1894	4105	5999	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.229G>C	2.37:g.178098816C>G	ENSP00000380252:p.Asp77His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D77H	ENST00000397062.3	37	c.229	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486904	0.63962	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	61;61;61;77	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	61;77;61;61;61;61;61	ENSP00000380253:D61H;ENSP00000380252:D77H;ENSP00000411575:D61H;ENSP00000391590:D61H;ENSP00000400073:D61H;ENSP00000412191:D61H;ENSP00000410015:D61H	ENSP00000380252:D77H	D	-	1	0	NFE2L2	177807062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098816	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178098816	C	G	178098816	3	3	98	1	0	0	0	0	1	0	0	0	10392	913	32	1	1604	1	NFE2L2	2	178098816	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	93277649	178098816	65100557	11	14358										
OBSL1	23363	genome.wustl.edu	37	chr2	220432185	220432185	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tgccgctccagccggtagatGaatggggtctcgggagctgg	17	10	1	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:220432185G>T	ENST00000404537.1	-	4	1703	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L	OBSL1_ENST00000373873.4_Missense_Mutation_p.F549L|OBSL1_ENST00000289656.3_Missense_Mutation_p.F136L|OBSL1_ENST00000603926.1_Missense_Mutation_p.F549L|OBSL1_ENST00000265318.4_Missense_Mutation_p.F549L|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.F549L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	549	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCGGTAGATGAATGGGGTCT	0.617																																																	0													23	29	27					2																	220432185		2008	4169	6177	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1647C>A	2.37:g.220432185G>T	ENSP00000385636:p.Phe549Leu		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F549L	ENST00000404537.1	37	c.1647	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	G	2.835	-0.241784	0.05906	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.56103	0.71;0.64;0.58;0.48;1.05	4.92	-1.55	0.08558	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31734	0.0806	N	0.08118	0	0.20703	N	0.999863	P;P;P;P	0.46621	0.881;0.803;0.634;0.794	P;P;B;B	0.47162	0.471;0.54;0.204;0.31	T	0.22941	-1.0202	9	0.07990	T	0.79	.	10.3357	0.43847	0.4742:0.0:0.5258:0.0	.	550;549;136;549	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	L	549;549;549;549;136	ENSP00000265318:F549L;ENSP00000385636:F549L;ENSP00000362983:F549L;ENSP00000362980:F549L;ENSP00000289656:F136L	ENSP00000265318:F549L	F	-	3	2	OBSL1	220140429	0.010000	0.17322	0.993000	0.49108	0.957000	0.61999	-0.242000	0.08928	-0.175000	0.10725	0.561000	0.74099	TTC	OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	G			220432185	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.262	T	T	220432185	G	T	220432185	3	4	98	1	0	0	0	0	1	0	0	0	10837	1281	45	3	4267	3	OBSL1	2	220432185	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	42333369	220432185	22767188	12	14359										
NKTR	4820	genome.wustl.edu	37	chr3	42680356	42680356	+	Frame_Shift_Del	DEL	A	A	-													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	acaatgaaaccataaaagatAatattctaaaaactgagaaa							TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:42680356delA	ENST00000232978.8	+	13	3348	c.3160delA	c.(3160-3162)aatfs	p.N1054fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1054					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CATAAAAGATAATATTCTAAA	0.343																																																	0													38	44	42					3																	42680356		2193	4288	6481	SO:0001589	frameshift_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3160delA	3.37:g.42680356delA	ENSP00000232978:p.Asn1054fs			Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.N1054fs	ENST00000232978.8	37	c.3160	CCDS2702.1	3																																																																																			NKTR	-	NULL		0.343	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	A	NM_005385		42680356	1	no_errors	ENST00000232978	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	42680356	A	-	42680356	7	5	98	1	0	1	0	1	0	0	0	0	10472	362	13	0	3206	0	NKTR	3	42680356	Frame_Shift_Del	DEL	A	TCGA-EK-A2PI-01A-11D-A18J-09		42680356	155342074	13	14360										
LARS2	23395	genome.wustl.edu	37	chr3	45441741	45441741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tgtcgttctttcctagaaatCgaagccaaaattttacgtgc	7	9	1	1	rs374194205		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:45441741C>T	ENST00000415258.1	+	3	380	c.239C>T	c.(238-240)tCg>tTg	p.S80L	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Missense_Mutation_p.S80L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	80					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TCCTAGAAATCGAAGCCAAAA	0.388																																																	0								C	LEU/SER	0,4406		0,0,2203	144	129	134		239	4.8	1	3		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	80/904	45441741	1,13005	2203	4300	6503	SO:0001583	missense	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.239C>T	3.37:g.45441741C>T	ENSP00000408576:p.Ser80Leu			Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.S80L	ENST00000415258.1	37	c.239	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086674	0.55861	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000430399	T;T;T	0.77877	-1.13;-1.13;1.88	5.64	4.75	0.60458	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.329012	0.29684	N	0.011464	T	0.76637	0.4015	M	0.71920	2.185	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.74074	-0.3782	10	0.54805	T	0.06	-5.9528	13.5883	0.61944	0.0:0.9243:0.0:0.0757	.	80	Q15031	SYLM_HUMAN	L	80	ENSP00000265537:S80L;ENSP00000408576:S80L;ENSP00000401388:S80L	ENSP00000265537:S80L	S	+	2	0	LARS2	45416745	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.064000	0.57506	1.356000	0.45884	0.650000	0.86243	TCG	LARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-ligase_bac/mito		0.388	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	C	NM_015340		45441741	1	no_errors	ENST00000265537	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45441741	C	T	45441741	3	4	98	1	0	0	0	0	1	0	0	0	8655	893	31	1	245	1	LARS2	3	45441741	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	2761385	45441741	152580689	14	14361										
XCR1	2829	genome.wustl.edu	37	chr3	46063368	46063368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gtagcaaagacccaggcctgGttctcacacggctggctctg	12	13	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:46063368G>T	ENST00000309285.3	-	2	428	c.72C>A	c.(70-72)aaC>aaA	p.N24K	XCR1_ENST00000542109.1_Missense_Mutation_p.N24K	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	24					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAGGCCTGGTTCTCACACG	0.567																																																	0													87	87	87					3																	46063368		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.72C>A	3.37:g.46063368G>T	ENSP00000310405:p.Asn24Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.N24K	ENST00000309285.3	37	c.72	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	G	3.807	-0.040423	0.07497	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.65732	-0.17;-0.17	5.03	-1.2	0.09554	.	1.838620	0.02385	N	0.079125	T	0.32823	0.0842	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28522	-1.0041	10	0.02654	T	1	.	1.1198	0.01722	0.3343:0.278:0.255:0.1327	.	24	P46094	XCR1_HUMAN	K	24	ENSP00000310405:N24K;ENSP00000438119:N24K	ENSP00000310405:N24K	N	-	3	2	XCR1	46038372	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.512000	0.00957	-0.336000	0.08438	0.650000	0.86243	AAC	XCR1	-	prints_Chemokine_lymphotactin_XCR1		0.567	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	G			46063368	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	missense	SNP	0.000	T	T	46063368	G	T	46063368	3	4	98	1	0	0	0	0	1	0	0	0	17456	1252	44	4	933	4	XCR1	3	46063368	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	621627	46063368	151959062	15	14362										
ATR	545	genome.wustl.edu	37	chr3	142215295	142215295	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	attgtaggctgtctggtggtGaccagcctttctagctaccc	11	11	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:142215295G>A	ENST00000350721.4	-	34	5927	c.5806C>T	c.(5806-5808)Cac>Tac	p.H1936Y	ATR_ENST00000383101.3_Missense_Mutation_p.H1872Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1936	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCTGGTGGTGACCAGCCTTT	0.498								Other conserved DNA damage response genes																																									0													170	139	149					3																	142215295		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5806C>T	3.37:g.142215295G>A	ENSP00000343741:p.His1936Tyr		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.H1936Y	ENST00000350721.4	37	c.5806	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433844	0.83776	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.63096	-0.02;-0.02	5.78	5.78	0.91487	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	L	0.46157	1.445	0.80722	D	1	P	0.44776	0.843	P	0.53549	0.729	T	0.60924	-0.7166	10	0.20519	T	0.43	-12.1389	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1936	Q13535	ATR_HUMAN	Y	1936;1872	ENSP00000343741:H1936Y;ENSP00000372581:H1872Y	ENSP00000343741:H1936Y	H	-	1	0	ATR	143697985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.730000	0.93505	0.655000	0.94253	CAC	ATR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.498	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	G	NM_001184		142215295	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142215295	G	A	142215295	3	1	98	1	0	0	0	0	1	0	0	0	1205	1290	45	1	2184	1	ATR	3	142215295	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	96151927	142215295	55807135	16	14363										
PLS1	5357	genome.wustl.edu	37	chr3	142430847	142430847	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aaggactgaacagaataaaaTaatcatttcatatgattttc	5	5	2	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:142430847T>G	ENST00000337777.3	+	16	2101	c.1888T>G	c.(1888-1890)Taa>Gaa	p.*630E	PLS1_ENST00000497002.1_Nonstop_Mutation_p.*630E|PLS1_ENST00000457734.2_Nonstop_Mutation_p.*630E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	0						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CAGAATAAAATAATCATTTCA	0.358																																																	0													90	89	90					3																	142430847		2203	4299	6502	SO:0001578	stop_lost	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1888T>G	3.37:g.142430847T>G	ENSP00000336831:p.*630Gluext*81		A8K2Q1|D3DNG3|Q8NEG6	Nonstop_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.*630E	ENST00000337777.3	37	c.1888	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909729	0.72983	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9507	0.79835	0.0:0.0:0.0:1.0	.	.	.	.	E	630	.	.	X	+	1	0	PLS1	143913537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.772000	0.68889	2.178000	0.69098	0.454000	0.30748	TAA	PLS1	-	NULL		0.358	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	T	NM_002670		142430847	1	no_errors	ENST00000337777	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	142430847	T	G	142430847	4	3	98	1	0	0	0	0	0	0	0	0	12131	1419	49	5	1946	5	PLS1	3	142430847	Nonstop_Mutation	SNP	T	TCGA-EK-A2PI-01A-11D-A18J-09	215552	142430847	55591583	17	14364										
PLCH1	23007	genome.wustl.edu	37	chr3	155206497	155206497	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tctttgtccaacaaagtctcGtccaatgggatcgtgatccc	8	12	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:155206497G>A	ENST00000340059.7	-	19	2454	c.2455C>T	c.(2455-2457)Cga>Tga	p.R819*	PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R801*|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R819*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R801*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R801*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R819*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	819	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACAAAGTCTCGTCCAATGGGA	0.453																																																	0													131	108	115					3																	155206497		2203	4300	6503	SO:0001587	stop_gained	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2455C>T	3.37:g.155206497G>A	ENSP00000345988:p.Arg819*		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R819*	ENST00000340059.7	37	c.2455	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.978495	0.97979	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.76	-0.238	0.13055	.	0.240412	0.39687	N	0.001286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3827	0.90457	0.0:0.0:0.43:0.57	.	.	.	.	X	819;801;819;819;801;801	.	ENSP00000335469:R801X	R	-	1	2	PLCH1	156689191	0.853000	0.29707	0.978000	0.43139	0.961000	0.63080	0.459000	0.21908	0.018000	0.15052	0.655000	0.94253	CGA	PLCH1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155206497	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	nonsense	SNP	0.260	A	A	155206497	G	A	155206497	4	1	98	1	0	0	0	0	0	1	0	0	12061	1153	40	2	2661	2	PLCH1	3	155206497	Nonsense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	12775650	155206497	42815933	18	14365										
PHC3	80012	genome.wustl.edu	37	chr3	169896685	169896685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttgacacagaagatgttcccGggtttggttcagtatccata	10	8	1	3	rs368703405		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:169896685G>A	ENST00000494943.1	-	2	88	c.20C>T	c.(19-21)cCg>cTg	p.P7L	PHC3_ENST00000467570.1_Missense_Mutation_p.P19L|PHC3_ENST00000481639.1_Missense_Mutation_p.P19L|PHC3_ENST00000495893.2_Missense_Mutation_p.P19L|PHC3_ENST00000474275.1_Missense_Mutation_p.P7L|PHC3_ENST00000497658.1_Missense_Mutation_p.P19L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	7					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGATGTTCCCGGGTTTGGTTC	0.448																																																	0								G	LEU/PRO	1,4131		0,1,2065	297	304	302		56	4.1	1	3		302	0,8432		0,0,4216	no	missense	PHC3	NM_024947.3	98	0,1,6281	AA,AG,GG		0.0,0.0242,0.0080	benign	19/996	169896685	1,12563	2066	4216	6282	SO:0001583	missense	80012				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.20C>T	3.37:g.169896685G>A	ENSP00000420271:p.Pro7Leu		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.P19L	ENST00000494943.1	37	c.56		3	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855616	0.51376	2.42E-4	0.0	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.32988	1.43;1.45	5.89	4.12	0.48240	.	0.320130	0.27366	N	0.019693	T	0.19886	0.0478	L	0.38175	1.15	0.31865	N	0.620463	B;B;B;B;B;P;B;B	0.34546	0.0;0.0;0.0;0.0;0.0;0.456;0.0;0.0	B;B;B;B;B;B;B;B	0.25291	0.0;0.001;0.0;0.0;0.001;0.059;0.001;0.001	T	0.17077	-1.0381	9	.	.	.	-6.9949	9.7552	0.40500	0.2078:0.0:0.7922:0.0	.	19;19;7;19;19;7;19;19	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	L	7;19;19;19;19;19;7;19;19;19	ENSP00000420271:P7L;ENSP00000420294:P19L	.	P	-	2	0	PHC3	171379379	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	2.478000	0.45189	0.847000	0.35167	-0.258000	0.10820	CCG	PHC3	-	NULL		0.448	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	G	NM_024947		169896685	-1	no_errors	ENST00000495893	ensembl	human	known	70_37	missense	SNP	1.000	A	A	169896685	G	A	169896685	3	1	98	1	0	0	0	0	1	0	0	0	11842	1116	39	2	2987	2	PHC3	3	169896685	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	14690188	169896685	28125745	19	14366										
CHRD	8646	genome.wustl.edu	37	chr3	184104671	184104671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gacccggtggtgtgcccaccGcccagctgcccacacccggt	12	19	0	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:184104671G>A	ENST00000204604.1	+	17	2481	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P287P|CHRD_ENST00000450923.1_Silent_p.P745P|CHRD_ENST00000348986.3_Silent_p.P705P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	745	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGCCCACCGCCCAGCTGCC	0.667																																																	0													52	45	47					3																	184104671		2203	4300	6503	SO:0001819	synonymous_variant	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2235G>A	3.37:g.184104671G>A			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.P745	ENST00000204604.1	37	c.2235	CCDS3266.1	3																																																																																			CHRD	-	pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C		0.667	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	G	NM_003741		184104671	1	no_errors	ENST00000204604	ensembl	human	known	70_37	silent	SNP	0.000	A	A	184104671	G	A	184104671	2	1	98	1	0	0	0	0	0	0	0	1	3377	1074	38	2		2	CHRD	3	184104671	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	14207986	184104671	13917759	20	14367										
HTT	3064	genome.wustl.edu	37	chr4	3189445	3189445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tttgagggttctgatttcccAgtcaactgaagatattgttc	9	7	2	4			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:3189445A>C	ENST00000355072.5	+	39	5202	c.5057A>C	c.(5056-5058)cAg>cCg	p.Q1686P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1686					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGATTTCCCAGTCAACTGAA	0.408																																																	0													205	191	196					4																	3189445		1844	4095	5939	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5057A>C	4.37:g.3189445A>C	ENSP00000347184:p.Gln1686Pro		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.Q1686P	ENST00000355072.5	37	c.5057	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601814	0.87055	.	.	ENSG00000197386	ENST00000355072	T	0.06142	3.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.00792	-1.1564	10	0.32370	T	0.25	.	15.8807	0.79201	1.0:0.0:0.0:0.0	.	1686	P42858	HD_HUMAN	P	1686	ENSP00000347184:Q1686P	ENSP00000347184:Q1686P	Q	+	2	0	HTT	3159243	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.108000	0.94275	2.151000	0.67156	0.533000	0.62120	CAG	HTT	-	NULL		0.408	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	A	NM_002111		3189445	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3189445	A	C	3189445	3	2	98	1	0	0	0	0	1	0	0	0	7477	188	7	5	5211	5	HTT	4	3189445	Missense_Mutation	SNP	A	TCGA-EK-A2PI-01A-11D-A18J-09		3189445	187964831	21	14368										
BST1	683	genome.wustl.edu	37	chr4	15717380	15717380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ccagaaggaaaaaattacacGaatcgagatctgggttatgc	10	7	1	2	rs113632818		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:15717380G>A	ENST00000265016.4	+	6	857	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	BST1_ENST00000382346.3_Missense_Mutation_p.R236Q	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	221					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AAAATTACACGAATCGAGATC	0.328																																																	0													74	76	76					4																	15717380		2203	4300	6503	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.662G>A	4.37:g.15717380G>A	ENSP00000265016:p.Arg221Gln		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.R221Q	ENST00000265016.4	37	c.662	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.441|5.441	0.266422|0.266422	0.10294|0.10294	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	.|T;T;T	.|0.13901	.|2.55;2.55;2.55	5.49|5.49	3.78|3.78	0.43462|0.43462	.|NAD(P)-binding domain (1);	.|0.645321	.|0.16067	.|N	.|0.231195	T|T	0.08802|0.08802	0.0218|0.0218	L|L	0.43152|0.43152	1.355|1.355	0.22918|0.22918	N|N	0.998567|0.998567	.|B;P	.|0.48911	.|0.12;0.917	.|B;B	.|0.32211	.|0.017;0.142	T|T	0.24977|0.24977	-1.0145|-1.0145	5|10	.|0.23891	.|T	.|0.37	-2.2374|-2.2374	8.7358|8.7358	0.34528|0.34528	0.1746:0.0:0.8254:0.0|0.1746:0.0:0.8254:0.0	.|.	.|236;221	.|A6NC48;Q10588	.|.;BST1_HUMAN	K|Q	117;29|221;236;71	.|ENSP00000265016:R221Q;ENSP00000371783:R236Q;ENSP00000420925:R71Q	.|ENSP00000265016:R221Q	E|R	+|+	1|2	0|0	BST1|BST1	15326478|15326478	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.164000|0.164000	0.22412|0.22412	0.525000|0.525000	0.22956|0.22956	0.820000|0.820000	0.34516|0.34516	-0.119000|-0.119000	0.15052|0.15052	GAA|CGA	BST1	-	pfam_ADP-ribosyl_cyclase		0.328	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	G	NM_004334		15717380	1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15717380	G	A	15717380	3	1	98	1	0	0	0	0	1	0	0	0	1536	1058	37	1	684	1	BST1	4	15717380	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	12527935	15717380	175436896	22	14369										
COL25A1	84570	genome.wustl.edu	37	chr4	109895530	109895530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gagcacaacttaccctaggtCcctgatcaccttgttctccc	6	16	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:109895530C>T	ENST00000399132.1	-	8	1015	c.485G>A	c.(484-486)gGa>gAa	p.G162E	COL25A1_ENST00000399127.1_Missense_Mutation_p.G162E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G162E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TACCCTAGGTCCCTGATCACC	0.373																																																	0													121	112	115					4																	109895530		1867	4097	5964	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.485G>A	4.37:g.109895530C>T	ENSP00000382083:p.Gly162Glu			Missense_Mutation	SNP	pfam_Collagen	p.G162E	ENST00000399132.1	37	c.485	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509324	0.44660	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99619	-6.0;-6.28;-6.0	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.94142	3.5	0.43930	D	0.996589	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97496	1.0057	9	.	.	.	-5.9157	18.3198	0.90234	0.0:1.0:0.0:0.0	.	162;162	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	162;164;158;162;162;164	ENSP00000382083:G162E;ENSP00000382078:G162E;ENSP00000382077:G162E	.	G	-	2	0	COL25A1	110114979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.770000	0.62309	2.765000	0.95021	0.557000	0.71058	GGA	COL25A1	-	pfam_Collagen		0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	C	NM_032518		109895530	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109895530	C	T	109895530	3	4	98	1	0	0	0	0	1	0	0	0	3689	855	30	1	1687	1	COL25A1	4	109895530	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	94178150	109895530	81258746	23	14370										
EGF	1950	genome.wustl.edu	37	chr4	110914420	110914420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cagatattgatgagtgccaaCtgggggagcacagctgtgga	15	7	0	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:110914420C>G	ENST00000265171.5	+	19	3197	c.2752C>G	c.(2752-2754)Ctg>Gtg	p.L918V	EGF_ENST00000509793.1_Missense_Mutation_p.L876V|EGF_ENST00000503392.1_Intron|RNU6-35P_ENST00000384530.1_RNA	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	918	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGAGTGCCAACTGGGGGAGCA	0.493																																																	0													133	129	130					4																	110914420		2203	4300	6503	SO:0001583	missense	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2752C>G	4.37:g.110914420C>G	ENSP00000265171:p.Leu918Val		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.L918V	ENST00000265171.5	37	c.2752	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805147	0.16467	.	.	ENSG00000138798	ENST00000509793;ENST00000265171	T;D	0.92099	2.26;-2.97	5.0	3.01	0.34805	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.756326	0.12515	N	0.462170	D	0.87022	0.6074	L	0.31294	0.92	0.20074	N	0.999938	P;P	0.45044	0.649;0.849	B;P	0.47299	0.228;0.543	T	0.77005	-0.2748	10	0.29301	T	0.29	.	4.3616	0.11205	0.237:0.6396:0.0:0.1234	.	876;918	P01133-2;P01133	.;EGF_HUMAN	V	876;918	ENSP00000424316:L876V;ENSP00000265171:L918V	ENSP00000265171:L918V	L	+	1	2	EGF	111133869	0.003000	0.15002	0.225000	0.23894	0.135000	0.20990	0.308000	0.19314	1.247000	0.43917	0.650000	0.86243	CTG	EGF	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom		0.493	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	C			110914420	1	no_errors	ENST00000265171	ensembl	human	known	70_37	missense	SNP	0.297	G	G	110914420	C	G	110914420	3	3	98	1	0	0	0	0	1	0	0	0	4972	564	20	4	2826	4	EGF	4	110914420	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	1018890	110914420	80239856	24	14371										
BBS12	166379	genome.wustl.edu	37	chr4	123664237	123664237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cagctcagaagaactgtgggCaaatcacgtgttacaggtgt	12	8	2	2	rs369235456		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:123664237C>T	ENST00000314218.3	+	2	1383	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	BBS12_ENST00000542236.1_Missense_Mutation_p.A397V	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	397					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAACTGTGGGCAAATCACGTG	0.398									Bardet-Biedl syndrome																																								0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	68	72	71		1190,1190	1.1	0	4		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BBS12	NM_001178007.1,NM_152618.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	397/711,397/711	123664237	1,13005	2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1190C>T	4.37:g.123664237C>T	ENSP00000319062:p.Ala397Val		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.A397V	ENST00000314218.3	37	c.1190	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352922	0.01256	0.0	1.16E-4	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.74421	-0.84;-0.84	5.58	1.1	0.20463	.	1.421900	0.04205	N	0.330683	T	0.51041	0.1651	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.40251	-0.9573	10	0.07990	T	0.79	-40.0847	5.5795	0.17243	0.132:0.4548:0.0:0.4132	.	397	Q6ZW61	BBS12_HUMAN	V	397	ENSP00000319062:A397V;ENSP00000438273:A397V	ENSP00000319062:A397V	A	+	2	0	BBS12	123883687	0.001000	0.12720	0.010000	0.14722	0.533000	0.34776	0.961000	0.29267	0.240000	0.21263	0.650000	0.86243	GCA	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.398	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	C	NM_152618		123664237	1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	0.000	T	T	123664237	C	T	123664237	3	4	98	1	0	0	0	0	1	0	0	0	1338	710	25	4	1192	4	BBS12	4	123664237	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	12749817	123664237	67490039	25	14372										
PHF17	79960	genome.wustl.edu	37	chr4	129793030	129793030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cagtcagcacctggcacaagGaaggagatagtgcccaagtg	13	10	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:129793030G>T	ENST00000226319.6	+	11	2422	c.2142G>T	c.(2140-2142)agG>agT	p.R714S	PHF17_ENST00000512960.1_Missense_Mutation_p.R714S|PHF17_ENST00000452328.2_Missense_Mutation_p.R702S	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGCACAAGGAAGGAGATAG	0.527																																																	0													48	50	49					4																	129793030		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.2142G>T	4.37:g.129793030G>T	ENSP00000226319:p.Arg714Ser			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R714S	ENST00000226319.6	37	c.2142	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	5.342	0.248364	0.10130	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960	T;T;T	0.46063	0.88;0.9;0.88	4.32	3.47	0.39725	.	0.273454	0.38217	N	0.001779	T	0.26304	0.0642	L	0.27053	0.805	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.05699	-1.0869	9	.	.	.	.	9.0264	0.36232	0.1685:0.0:0.8315:0.0	.	702;714	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	S	714;702;714	ENSP00000226319:R714S;ENSP00000388015:R702S;ENSP00000425730:R714S	.	R	+	3	2	PHF17	130012480	1.000000	0.71417	0.996000	0.52242	0.853000	0.48598	3.014000	0.49590	1.162000	0.42619	-0.258000	0.10820	AGG	PHF17	-	NULL		0.527	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	G			129793030	1	no_errors	ENST00000226319	ensembl	human	known	70_37	missense	SNP	0.974	T	T	129793030	G	T	129793030	3	4	98	1	0	0	0	0	1	0	0	0	11852	1165	41	3	2207	3	PHF17	4	129793030	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	6128793	129793030	61361246	26	14373										
CYP4V2	285440	genome.wustl.edu	37	chr4	187115763	187115763	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctttataatgcagaaaatgtGgaggtgggtacatgtgaata	12	3	0	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:187115763G>T	ENST00000378802.4	+	2	628	c.324G>T	c.(322-324)gtG>gtT	p.V108V		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	108					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CAGAAAATGTGGAGGTGGGTA	0.458																																																	0													103	97	99					4																	187115763		2203	4300	6503	SO:0001819	synonymous_variant	285440			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.324G>T	4.37:g.187115763G>T			B7U6W2|Q6ZTM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.V108	ENST00000378802.4	37	c.324	CCDS34119.1	4																																																																																			CYP4V2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.458	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4V2	HGNC	protein_coding	OTTHUMT00000360398.1	G	XM_209612		187115763	1	no_errors	ENST00000378802	ensembl	human	known	70_37	silent	SNP	1.000	T	T	187115763	G	T	187115763	2	4	98	1	0	0	0	0	0	0	0	1	4197	1335	47	4		4	CYP4V2	4	187115763	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	57322733	187115763	4038513	27	14374										
CDH12	1010	genome.wustl.edu	37	chr5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gtcttttttcttctgccttcGcagtgctacatacagtacaa	6	11	3	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)																																							0													78	76	76					5																	21752319		2203	4300	6503	SO:0001587	stop_gained	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1912C>T	5.37:g.21752319G>A	ENSP00000371689:p.Arg638*		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R638*	ENST00000382254.1	37	c.1912	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.035683	0.98017	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.44	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.0773	0.99966	0.0:0.0:0.1604:0.8396	.	.	.	.	X	638;638;598	.	ENSP00000371689:R638X	R	-	1	2	CDH12	21788076	0.003000	0.15002	0.610000	0.28997	0.550000	0.35303	-0.179000	0.09768	-0.676000	0.05238	-0.467000	0.05162	CGA	CDH12	-	pfam_Cadherin_cytoplasmic-dom		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	G	NM_004061		21752319	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	nonsense	SNP	0.943	A	A	21752319	G	A	21752319	4	1	98	1	0	0	0	0	0	1	0	0	3103	1095	38	2	476	2	CDH12	5	21752319	Nonsense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		21752319	159162941	28	14375										
NAIP	4671	genome.wustl.edu	37	chr5	70307110	70307110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttatctacttacttggggaaCcatttggcatgttccttcca	7	10	1	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:70307110C>G	ENST00000517649.1	-	5	950	c.660G>C	c.(658-660)tgG>tgC	p.W220C	NAIP_ENST00000194097.4_Missense_Mutation_p.W220C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.W220C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	220					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACTTGGGGAACCATTTGGCAT	0.403																																																	0													121	104	110					5																	70307110		2202	4296	6498	SO:0001583	missense	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.660G>C	5.37:g.70307110C>G	ENSP00000428657:p.Trp220Cys		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.W220C	ENST00000517649.1	37	c.660	CCDS4009.1	5	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697985	0.48307	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04317	3.65;3.65;3.65	2.86	2.86	0.33363	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.21509	0.0518	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.03576	-1.1023	9	0.48119	T	0.1	.	13.5868	0.61935	0.0:1.0:0.0:0.0	.	220;220	E7EQW0;Q13075	.;BIRC1_HUMAN	C	220	ENSP00000428657:W220C;ENSP00000443944:W220C;ENSP00000429545:W220C	ENSP00000443944:W220C	W	-	3	0	NAIP	70342866	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.637000	0.54324	1.917000	0.55516	0.205000	0.17691	TGG	NAIP	-	pfam_BIR,smart_BIR,pfscan_BIR		0.403	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	C	NM_004536		70307110	-1	no_errors	ENST00000194097	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70307110	C	G	70307110	3	3	98	1	0	0	0	0	1	0	0	0	10170	508	18	4	3603	4	NAIP	5	70307110	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	48554791	70307110	110608150	29	14376										
PCDHA13	56136	genome.wustl.edu	37	chr5	140263676	140263677	+	Missense_Mutation	DNP	CG	CG	TA													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gggctacaatgcgtggctttCgtatgaattgcagctggcgg							TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:140263676_140263677CG>TA	ENST00000289272.2	+	1	1823_1824	c.1823_1824CG>TA	c.(1822-1824)tCG>tTA	p.S608L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S608L|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAATTGC	0.683																																					Melanoma(147;1739 1852 5500 27947 37288)												0																																										SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	Exception_encountered	5.37:g.140263676_140263677delinsTA	ENSP00000289272:p.Ser608Leu		O75277	Missense_Mutation|Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S608L|p.S608	ENST00000289272.2	37	c.1823|c.1824	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.683	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C|G	NM_018904		140263676|140263677	1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense|silent	SNP	0.964|0.009	T|A	TA	140263677	CG	TA	140263676	3	4	98	1	0	0	0	0	1	0	0	0	11547	893	31	1	1825	1	PCDHA13	5	140263676	Missense_Mutation	DNP	CG	TCGA-EK-A2PI-01A-11D-A18J-09	69956566	140263676	40651584	30	14377										
GPLD1	2822	genome.wustl.edu	37	chr6	24486350	24486350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aagctgaagaaactccagagCtctgtgtcctgagagaaata	10	8	1	5			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:24486350C>T	ENST00000230036.1	-	2	216	c.106G>A	c.(106-108)Gct>Act	p.A36T	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	36					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AACTCCAGAGCTCTGTGTCCT	0.313																																																	0													120	128	125					6																	24486350		2203	4300	6503	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.106G>A	6.37:g.24486350C>T	ENSP00000230036:p.Ala36Thr		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.A36T	ENST00000230036.1	37	c.106	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219162	0.58560	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.52983	0.64	5.11	5.11	0.69529	.	0.078748	0.52532	D	0.000067	T	0.54565	0.1866	M	0.80847	2.515	0.58432	D	0.999992	D;P	0.55605	0.972;0.722	P;B	0.54100	0.742;0.419	T	0.55566	-0.8121	10	0.35671	T	0.21	-14.8187	16.1183	0.81324	0.0:1.0:0.0:0.0	.	36;36	P80108-2;P80108	.;PHLD_HUMAN	T	36	ENSP00000230036:A36T	ENSP00000230036:A36T	A	-	1	0	GPLD1	24594329	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.057000	0.57455	2.526000	0.85167	0.551000	0.68910	GCT	GPLD1	-	prints_Gprt_PLipase_D		0.313	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	C	NM_001503		24486350	-1	no_errors	ENST00000230036	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24486350	C	T	24486350	3	4	98	1	0	0	0	0	1	0	0	0	6633	797	28	4	2553	4	GPLD1	6	24486350	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		24486350	146628717	31	14378										
HLA-DRA	3122	genome.wustl.edu	37	chr6	32411228	32411228	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	actggggcttggatgagcctCttctcaagcactggggtatg	14	9	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:32411228C>A	ENST00000374982.5	+	3	593	c.520C>A	c.(520-522)Ctt>Att	p.L174I	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.L199I			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	199	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GGATGAGCCTCTTCTCAAGCA	0.493									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																																								0													115	127	123					6																	32411228		1509	2709	4218	SO:0001583	missense	3122	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.520C>A	6.37:g.32411228C>A	ENSP00000364121:p.Leu174Ile		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.L199I	ENST00000374982.5	37	c.595		6	.	.	.	.	.	.	.	.	.	.	.	16.86	3.238718	0.58995	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00623	6.15;6.15	5.59	-2.59	0.06209	Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.108070	0.06619	N	0.756982	T	0.00695	0.0023	M	0.61703	1.905	0.09310	N	1	P;B	0.44946	0.846;0.01	P;B	0.53360	0.724;0.07	T	0.38628	-0.9652	10	0.87932	D	0	.	9.7073	0.40222	0.315:0.2341:0.4508:0.0	.	174;199	Q30118;P01903	.;DRA_HUMAN	I	199;174	ENSP00000378786:L199I;ENSP00000364121:L174I	ENSP00000364121:L174I	L	+	1	0	HLA-DRA	32519206	0.000000	0.05858	0.269000	0.24586	0.791000	0.44710	-1.318000	0.02705	-0.369000	0.08028	0.638000	0.83543	CTT	HLA-DRA	-	pfam_Ig_C1-set		0.493	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	HLA-DRA	HGNC	protein_coding	OTTHUMT00000076587.3	C	NM_019111		32411228	1	no_errors	ENST00000395388	ensembl	human	known	70_37	missense	SNP	0.075	A	A	32411228	C	A	32411228	3	1	98	1	0	0	0	0	1	0	0	0	7227	913	32	3	605	3	HLA-DRA	6	32411228	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	7924878	32411228	138703839	32	14379										
MAPK13	5603	genome.wustl.edu	37	chr6	36106799	36106799	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	agccgtttgatgattccttaGaacacgagaaactcacagtg	9	9	1	4			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:36106799G>C	ENST00000211287.4	+	11	1247	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E319Q|Z95152.1_ENST00000408816.1_RNA	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	329					cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGATTCCTTAGAACACGAGAA	0.602																																																	0													53	55	54					6																	36106799		2203	4300	6503	SO:0001583	missense	5603			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.985G>C	6.37:g.36106799G>C	ENSP00000211287:p.Glu329Gln		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	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,prints_MAPK_p38,prints_MAPK_JNK	p.E329Q	ENST00000211287.4	37	c.985	CCDS4818.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274888	0.80580	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.61510	0.1;0.1	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000020	T	0.69744	0.3145	M	0.76938	2.355	0.80722	D	1	D	0.60160	0.987	P	0.59703	0.862	T	0.74763	-0.3555	10	0.72032	D	0.01	-28.2878	18.6501	0.91428	0.0:0.0:1.0:0.0	.	329	O15264	MK13_HUMAN	Q	319;329;274	ENSP00000362866:E319Q;ENSP00000211287:E329Q	ENSP00000211287:E329Q	E	+	1	0	MAPK13	36214777	1.000000	0.71417	0.786000	0.31890	0.922000	0.55478	9.706000	0.98722	2.392000	0.81423	0.561000	0.74099	GAA	MAPK13	-	superfamily_Kinase-like_dom		0.602	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK13	HGNC	protein_coding	OTTHUMT00000040328.1	G			36106799	1	no_errors	ENST00000211287	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36106799	G	C	36106799	3	2	98	1	0	0	0	0	1	0	0	0	9298	943	33	1	1027	1	MAPK13	6	36106799	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	3695571	36106799	135008268	33	14380										
ZNF318	24149	genome.wustl.edu	37	chr6	43307899	43307899	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tcctcttctttttctggcttCttccagctgaatttcccaaa	4	13	4	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:43307899C>T	ENST00000361428.2	-	10	3914	c.3837G>A	c.(3835-3837)aaG>aaA	p.K1279K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1279	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTTCTGGCTTCTTCCAGCTGA	0.383																																																	0													151	155	154					6																	43307899		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3837G>A	6.37:g.43307899C>T			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.K1279	ENST00000361428.2	37	c.3837	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.383	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43307899	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43307899	C	T	43307899	2	4	98	1	0	0	0	0	0	0	0	1	17866	912	32	1		1	ZNF318	6	43307899	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	7201100	43307899	127807168	34	14381										
TSPYL4	23270	genome.wustl.edu	37	chr6	116574253	116574253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cttgacaagcccctcatttcGgaagtaggggttgccctgaa	11	11	1	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:116574253G>A	ENST00000420283.1	-	1	1008	c.919C>T	c.(919-921)Cga>Tga	p.R307*	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	307					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCCTCATTTCGGAAGTAGGGG	0.537																																																	0													75	75	75					6																	116574253		1931	4152	6083	SO:0001587	stop_gained	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.919C>T	6.37:g.116574253G>A	ENSP00000410943:p.Arg307*		B4DYQ2|O94828|Q96GW8	Nonsense_Mutation	SNP	pfam_NAP_family	p.R307*	ENST00000420283.1	37	c.919	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.560161	0.96527	.	.	ENSG00000187189	ENST00000420283	.	.	.	3.83	1.98	0.26296	.	1.103170	0.07343	U	0.881097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0001	8.7113	0.34385	0.0:0.0:0.5861:0.4139	.	.	.	.	X	307	.	ENSP00000410943:R307X	R	-	1	2	TSPYL4	116680946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.839000	0.39220	0.552000	0.29026	0.462000	0.41574	CGA	TSPYL4	-	pfam_NAP_family		0.537	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	G			116574253	-1	no_errors	ENST00000420283	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	116574253	G	A	116574253	4	1	98	1	0	0	0	0	0	1	0	0	16692	1124	39	2	329	2	TSPYL4	6	116574253	Nonsense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	73266354	116574253	54540814	35	14382										
TMEM120A	5447	genome.wustl.edu	37	chr7	75616500	75616500	+	IGR	DEL	T	T	-													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aggcccagcctcaatccttcTtgctcccgtgccgctgactg							TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:75616500delT	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TCAATCCTTCTTGCTCCCGTG	0.597																																																	0													24	29	27					7																	75616500		2052	4193	6245	SO:0001628	intergenic_variant	83862			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616500delT			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	DEL	-	NULL	ENST00000461988.1	37	NULL	CCDS5579.1	7																																																																																			TMEM120A	-	-		0.597	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120A	HGNC	protein_coding	OTTHUMT00000252796.7	T	NM_000941		75616500	-1	no_errors	ENST00000338761	ensembl	human	known	70_37	rna	DEL	0.996	-	-	75616500	T	-	75616500	6	5	98	0	1	1	0	1	0	0	0	0	16063	1609	56	0		0	TMEM120A	7	75616500	IGR	DEL	T	TCGA-EK-A2PI-01A-11D-A18J-09		75616500	83522163	36	14383										
PTPN12	5782	genome.wustl.edu	37	chr7	77240091	77240091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttctgttttagaaaataccaGaggaatttaatgtatttaat	6	3	1	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:77240091G>C	ENST00000248594.6	+	10	1044	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	PTPN12_ENST00000435495.2_Missense_Mutation_p.E128Q|PTPN12_ENST00000415482.2_Missense_Mutation_p.E139Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	258	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAAAATACCAGAGGAATTTAA	0.269																																																	0													29	33	31					7																	77240091		2111	4244	6355	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.772G>C	7.37:g.77240091G>C	ENSP00000248594:p.Glu258Gln		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E258Q	ENST00000248594.6	37	c.772	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592976	0.86953	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.11385	2.78;3.14;3.15	5.47	5.47	0.80525	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.64260	1.97	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.00872	-1.1532	10	0.66056	D	0.02	.	19.6841	0.95974	0.0:0.0:1.0:0.0	.	258	Q05209	PTN12_HUMAN	Q	258;139;139;128	ENSP00000248594:E258Q;ENSP00000392429:E139Q;ENSP00000397991:E128Q	ENSP00000248594:E258Q	E	+	1	0	PTPN12	77078027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.897000	0.92532	2.714000	0.92807	0.655000	0.94253	GAG	PTPN12	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.269	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	G			77240091	1	no_errors	ENST00000248594	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77240091	G	C	77240091	3	2	98	1	0	0	0	0	1	0	0	0	12809	943	33	1	810	1	PTPN12	7	77240091	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	1623591	77240091	81898572	37	14384										
ADAM22	53616	genome.wustl.edu	37	chr7	87762260	87762260	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttgctgaaaggaggaggcgtGaatgaagtaggtgtgaacat	16	3	0	4			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:87762260G>C	ENST00000265727.7	+	12	1150	c.1071G>C	c.(1069-1071)gtG>gtC	p.V357V	ADAM22_ENST00000315984.7_Silent_p.V357V|ADAM22_ENST00000398201.4_Silent_p.V357V|ADAM22_ENST00000398209.3_Silent_p.V357V|ADAM22_ENST00000398204.4_Silent_p.V357V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGAGGCGTGAATGAAGTAG	0.408																																																	0													189	201	197					7																	87762260		2100	4246	6346	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1071G>C	7.37:g.87762260G>C			O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V357	ENST00000265727.7	37	c.1071	CCDS47637.1	7																																																																																			ADAM22	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.408	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	G	NM_021723		87762260	1	no_errors	ENST00000265727	ensembl	human	known	70_37	silent	SNP	1.000	C	C	87762260	G	C	87762260	2	2	98	1	0	0	0	0	0	0	0	1	244	1277	45	1		1	ADAM22	7	87762260	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	10522169	87762260	71376403	38	14385										
PUS7	54517	genome.wustl.edu	37	chr7	105103125	105103125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aggcccctgacaaggaataaTctcgaattttgtgtctcatg	9	9	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:105103125T>C	ENST00000356362.2	-	14	1914	c.1700A>G	c.(1699-1701)gAt>gGt	p.D567G	PUS7_ENST00000469408.1_Missense_Mutation_p.D567G	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	567	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CAAGGAATAATCTCGAATTTT	0.358																																					Colon(138;2387 3051 17860)												0													166	153	158					7																	105103125		2203	4300	6503	SO:0001583	missense	54517			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1700A>G	7.37:g.105103125T>C	ENSP00000348722:p.Asp567Gly		Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.D567G	ENST00000356362.2	37	c.1700	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760035	0.89932	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.41065	1.01;1.01	5.62	5.62	0.85841	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.72625	0.951;0.978	T	0.63093	-0.6714	10	0.35671	T	0.21	-27.487	15.0087	0.71533	0.0:0.0:0.0:1.0	.	567;567	B3KY42;Q96PZ0	.;PUS7_HUMAN	G	567	ENSP00000348722:D567G;ENSP00000417402:D567G	ENSP00000348722:D567G	D	-	2	0	PUS7	104890361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.122000	0.65172	0.533000	0.62120	GAT	PUS7	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD		0.358	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1	T	NM_019042		105103125	-1	no_errors	ENST00000356362	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105103125	T	C	105103125	3	2	98	1	0	0	0	0	1	0	0	0	12863	1435	50	5	297	5	PUS7	7	105103125	Missense_Mutation	SNP	T	TCGA-EK-A2PI-01A-11D-A18J-09	17340865	105103125	54035538	39	14386										
MGAM	8972	genome.wustl.edu	37	chr7	141730555	141730555	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gagtgactccactcattgggGaggtaacttaatgggaaggc	14	7	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:141730555G>T	ENST00000549489.2	+	12	1563	c.1468G>T	c.(1468-1470)Gag>Tag	p.E490*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.E490*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	490	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCATTGGGGAGGTAACTTA	0.468																																																	0													64	59	60					7																	141730555		1900	4128	6028	SO:0001587	stop_gained	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1468G>T	7.37:g.141730555G>T	ENSP00000447378:p.Glu490*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E490*	ENST00000549489.2	37	c.1468	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792984	0.90453	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	4.99	0.902	0.19290	.	0.343612	0.25022	N	0.033749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2028	0.15275	0.2435:0.2829:0.4736:0.0	.	.	.	.	X	490;490;367	.	ENSP00000316431:E367X	E	+	1	0	MGAM	141377024	1.000000	0.71417	0.986000	0.45419	0.132000	0.20833	2.006000	0.40874	0.245000	0.21373	-0.302000	0.09304	GAG	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141730555	1	no_errors	ENST00000549489	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	141730555	G	T	141730555	4	4	98	1	0	0	0	0	0	1	0	0	9564	1175	41	3	1510	3	MGAM	7	141730555	Nonsense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	36627430	141730555	17408108	40	14387										
VPS37A	137492	genome.wustl.edu	37	chr8	17123453	17123453	+	Frame_Shift_Del	DEL	C	C	-													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aagatgtggaatacagattgCcattcaccataaacaacctg							TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:17123453delC	ENST00000324849.4	+	2	837	c.163delC	c.(163-165)ccafs	p.P55fs	VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Frame_Shift_Del_p.P55fs	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	55					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATACAGATTGCCATTCACCAT	0.289																																																	0													108	108	108					8																	17123453		2203	4293	6496	SO:0001589	frameshift_variant	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.163delC	8.37:g.17123453delC	ENSP00000318629:p.Pro55fs		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Frame_Shift_Del	DEL	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.P55fs	ENST00000324849.4	37	c.163	CCDS6001.1	8																																																																																			VPS37A	-	NULL		0.289	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	C	NM_152415		17123453	1	no_errors	ENST00000324849	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	17123453	C	-	17123453	7	5	98	1	0	1	0	1	0	0	0	0	17236	739	26	0	169	0	VPS37A	8	17123453	Frame_Shift_Del	DEL	C	TCGA-EK-A2PI-01A-11D-A18J-09		17123453	129240569	41	14388										
LPL	4023	genome.wustl.edu	37	chr8	19809403	19809403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aggagcattacccagtgtccGcgggctacaccaaactggtg	12	12	0	0	rs199675233		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:19809403G>A	ENST00000311322.8	+	3	843	c.373G>A	c.(373-375)Gcg>Acg	p.A125T		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	125					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.A125T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CCCAGTGTCCGCGGGCTACAC	0.532																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	HM971397	LPL	M							117	106	110					8																	19809403		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.373G>A	8.37:g.19809403G>A	ENSP00000309757:p.Ala125Thr		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.A125T	ENST00000311322.8	37	c.373	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790048	0.90367	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000311322;ENST00000538071;ENST00000535763	D;D;D	0.89810	-2.57;-2.57;-2.57	5.91	5.91	0.95273	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	M	0.65975	2.015	0.39805	D	0.972622	D	0.89917	1.0	D	0.74023	0.982	D	0.92642	0.6125	8	.	.	.	-15.5229	17.7894	0.88547	0.0:0.0:1.0:0.0	.	125	P06858	LIPL_HUMAN	T	49;125;125;49;111	ENSP00000428496:A49T;ENSP00000428237:A125T;ENSP00000309757:A125T	.	A	+	1	0	LPL	19853683	1.000000	0.71417	0.988000	0.46212	0.673000	0.39480	9.688000	0.98670	2.805000	0.96524	0.460000	0.39030	GCG	LPL	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipo_Lipase,tigrfam_Lipo_Lipase		0.532	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	G			19809403	1	no_errors	ENST00000311322	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19809403	G	A	19809403	3	1	98	1	0	0	0	0	1	0	0	0	8944	1087	38	2	383	2	LPL	8	19809403	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	2685950	19809403	126554619	42	14389										
ZFHX4	79776	genome.wustl.edu	37	chr8	77763576	77763576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ggagaactgtgggcagagagCgaaactatgtcccaggatga	15	7	0	3	rs540974936		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:77763576C>T	ENST00000521891.2	+	10	4867	c.4419C>T	c.(4417-4419)agC>agT	p.S1473S	ZFHX4_ENST00000455469.2_Silent_p.S1428S|ZFHX4_ENST00000050961.6_Silent_p.S1428S|ZFHX4_ENST00000518282.1_Silent_p.S1447S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGCAGAGAGCGAAACTATGT	0.493										HNSCC(33;0.089)			c|||	1	0.000199681	8e-04	0	5008	,	,		19900	0		0	False		,,,				2504	0																0													46	43	44					8																	77763576		2009	4183	6192	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4419C>T	8.37:g.77763576C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S1473	ENST00000521891.2	37	c.4419	CCDS47878.2	8																																																																																			ZFHX4	-	NULL		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77763576	1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	0.958	T	T	77763576	C	T	77763576	2	4	98	1	0	0	0	0	0	0	0	1	17665	767	27	2		2	ZFHX4	8	77763576	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	57954173	77763576	68600446	43	14390										
ZBTB10	65986	genome.wustl.edu	37	chr8	81412100	81412100	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gtggccagctatcttcaaatGagtgaagttgttcaaacttg	10	7	3	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:81412100G>T	ENST00000430430.1	+	3	2123	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	ZBTB10_ENST00000455036.3_Missense_Mutation_p.M448I|ZBTB10_ENST00000426744.2_Missense_Mutation_p.M448I|ZBTB10_ENST00000379091.4_Missense_Mutation_p.M156I	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ATCTTCAAATGAGTGAAGTTG	0.373																																																	0													87	81	83					8																	81412100		1827	4089	5916	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1344G>T	8.37:g.81412100G>T	ENSP00000387462:p.Met448Ile		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M448I	ENST00000430430.1	37	c.1344	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487457	0.84854	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.77	5.77	0.91146	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	L	0.27975	0.815	0.58432	D	0.999999	P;D;D;D	0.63880	0.881;0.985;0.982;0.993	P;D;D;D	0.73708	0.863;0.977;0.961;0.981	T	0.73490	-0.3966	10	0.72032	D	0.01	.	20.0562	0.97651	0.0:0.0:1.0:0.0	.	304;448;448;156	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	I	156;448;448;448;276	ENSP00000368384:M156I;ENSP00000387462:M448I;ENSP00000412036:M448I;ENSP00000416134:M448I	ENSP00000368384:M156I	M	+	3	0	ZBTB10	81574655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.758000	0.94735	0.644000	0.83932	ATG	ZBTB10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.373	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	G	NM_023929		81412100	1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81412100	G	T	81412100	3	4	98	1	0	0	0	0	1	0	0	0	17553	1290	45	3	1350	3	ZBTB10	8	81412100	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	3648524	81412100	64951922	44	14391										
NFKBIL2	4796	genome.wustl.edu	37	chr8	145665491	145665491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cgcctcctcctcctcatcttCatcttcagctacactgagct	4	18	5	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:145665491C>T	ENST00000409379.3	-	11	1422	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	465	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						tcctcatcttcatcttcAGCT	0.657																																																	0													35	36	36					8																	145665491		2202	4296	6498	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1393G>A	8.37:g.145665491C>T	ENSP00000386239:p.Glu465Lys		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E465K	ENST00000409379.3	37	c.1393	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	1.042	-0.678485	0.03378	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.41758	0.99	5.7	4.82	0.62117	.	8.984230	0.00166	N	0.000001	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.28554	-1.0040	10	0.05959	T	0.93	-0.5157	14.5642	0.68162	0.0:0.8528:0.1472:0.0	.	465	Q96HA7	TONSL_HUMAN	K	465	ENSP00000386239:E465K	ENSP00000386239:E465K	E	-	1	0	TONSL	145636299	0.013000	0.17824	0.052000	0.19188	0.010000	0.07245	1.240000	0.32731	1.403000	0.46800	0.655000	0.94253	GAA	TONSL	-	NULL		0.657	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	C	NM_013432		145665491	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.225	T	T	145665491	C	T	145665491	3	4	98	1	0	0	0	0	1	0	0	0	10406	835	29	1	2807	1	NFKBIL2	8	145665491	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	64253391	145665491	698531	45	14392										
KIF27	55582	genome.wustl.edu	37	chr9	86506263	86506263	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ataatgccccaaatgagtatCaaatggtacagtatatggtc	8	7	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr9:86506263C>T	ENST00000297814.2	-	6	1899	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	KIF27_ENST00000334204.2_Missense_Mutation_p.D586N|KIF27_ENST00000413982.1_Missense_Mutation_p.D586N|KIF27_ENST00000376347.1_5'Flank	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	586					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAATGAGTATCAAATGGTACA	0.363																																																	0													117	118	118					9																	86506263		2203	4300	6503	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1756G>A	9.37:g.86506263C>T	ENSP00000297814:p.Asp586Asn		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D586N	ENST00000297814.2	37	c.1756	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415783	0.42817	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.55930	0.49;0.49;0.49	4.73	4.73	0.59995	.	0.550760	0.16381	N	0.216887	T	0.39655	0.1086	L	0.41236	1.265	0.24283	N	0.995197	P;P;P	0.38922	0.557;0.646;0.651	B;B;B	0.39152	0.172;0.292;0.118	T	0.19224	-1.0312	10	0.19590	T	0.45	.	6.0255	0.19652	0.0:0.769:0.0:0.231	.	586;586;586	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	586	ENSP00000297814:D586N;ENSP00000401688:D586N;ENSP00000333928:D586N	ENSP00000297814:D586N	D	-	1	0	KIF27	85696083	1.000000	0.71417	0.993000	0.49108	0.953000	0.61014	3.460000	0.53028	2.448000	0.82819	0.650000	0.86243	GAT	KIF27	-	NULL		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	C	NM_017576		86506263	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	missense	SNP	0.977	T	T	86506263	C	T	86506263	3	4	98	1	0	0	0	0	1	0	0	0	8316	826	29	1	2501	1	KIF27	9	86506263	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		86506263	54707168	46	14393										
C9orf153	389766	genome.wustl.edu	37	chr9	88842882	88842882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aagtgaaataccatgcatttTtagaagatttgatttcttgc	7	5	1	4			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr9:88842882T>G	ENST00000376001.3	-	3	210	c.130A>C	c.(130-132)Aaa>Caa	p.K44Q	C9orf153_ENST00000339137.3_Missense_Mutation_p.K44Q|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	44										breast(1)|lung(1)	2						CCATGCATTTTTAGAAGATTT	0.388																																																	0													113	95	101					9																	88842882		2203	4300	6503	SO:0001583	missense	389766				CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.130A>C	9.37:g.88842882T>G	ENSP00000365169:p.Lys44Gln		Q5TBE4	Missense_Mutation	SNP	NULL	p.K44Q	ENST00000376001.3	37	c.130	CCDS35055.1	9	.	.	.	.	.	.	.	.	.	.	T	8.471	0.857575	0.17106	.	.	ENSG00000187753	ENST00000339137;ENST00000376001	T;T	0.50001	0.76;0.76	4.74	2.39	0.29439	.	0.114957	0.39759	N	0.001261	T	0.33585	0.0868	L	0.34521	1.04	0.09310	N	1	B;B	0.24258	0.093;0.1	B;B	0.26770	0.046;0.073	T	0.23547	-1.0185	10	0.52906	T	0.07	-13.5939	6.635	0.22877	0.0:0.0887:0.1567:0.7547	.	44;44	Q5TBE3;Q5TBE3-2	CI153_HUMAN;.	Q	44	ENSP00000344865:K44Q;ENSP00000365169:K44Q	ENSP00000344865:K44Q	K	-	1	0	C9orf153	88032702	0.035000	0.19736	0.002000	0.10522	0.027000	0.11550	1.012000	0.29924	0.077000	0.16863	-1.255000	0.01485	AAA	C9orf153	-	NULL		0.388	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	C9orf153	HGNC	protein_coding	OTTHUMT00000052913.1	T	NM_001010907		88842882	-1	no_errors	ENST00000376001	ensembl	human	known	70_37	missense	SNP	0.001	G	G	88842882	T	G	88842882	3	3	98	1	0	0	0	0	1	0	0	0	2469	1850	64	5	183	5	C9orf153	9	88842882	Missense_Mutation	SNP	T	TCGA-EK-A2PI-01A-11D-A18J-09	2336619	88842882	52370549	47	14394										
FBXW2	26190	genome.wustl.edu	37	chr9	123540630	123540630	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttgaaaaagggcaacccaccCgcccccgtgtgcccccgaaa	9	17	0	1	rs200239627		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr9:123540630C>T	ENST00000608872.1	-	4	871	c.684G>A	c.(682-684)gcG>gcA	p.A228A	FBXW2_ENST00000493559.1_5'Flank|FBXW2_ENST00000340778.5_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	228					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GCAACCCACCCGCCCCCGTGT	0.488																																																	0								C		0,3638		0,0,1819	22	23	22		684	3	1	9		22	2,8136		0,2,4067	yes	coding-synonymous-near-splice	FBXW2	NM_012164.3		0,2,5886	TT,TC,CC		0.0246,0.0,0.017		228/455	123540630	2,11774	1819	4069	5888	SO:0001630	splice_region_variant	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.685+1G>A	9.37:g.123540630C>T			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A228	ENST00000608872.1	37	c.684	CCDS43872.1	9																																																																																			FBXW2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.488	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	C		Silent	123540630	-1	no_errors	ENST00000373926	ensembl	human	known	70_37	silent	SNP	1.000	T	T	123540630	C	T	123540630	5	4	98	1	0	0	0	0	0	0	1	0	5784	666	23	2	700	2	FBXW2	9	123540630	Splice_Site	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	34697748	123540630	17672801	48	14395										
IDI2	91734	genome.wustl.edu	37	chr10	1065758	1065758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gatagattgtcatgaacacaAtgtcctctggagaaatctat	8	7	3	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:1065758A>G	ENST00000277517.1	-	5	447	c.383T>C	c.(382-384)aTt>aCt	p.I128T	IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	128	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CATGAACACAATGTCCTCTGG	0.363																																																	0													118	103	108					10																	1065758		2203	4300	6503	SO:0001583	missense	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.383T>C	10.37:g.1065758A>G	ENSP00000277517:p.Ile128Thr			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.I128T	ENST00000277517.1	37	c.383	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011000	0.75046	.	.	ENSG00000148377	ENST00000277517	T	0.08458	3.09	3.55	3.55	0.40652	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.101585	0.64402	U	0.000003	T	0.24547	0.0595	M	0.63843	1.955	0.21527	N	0.999654	P	0.42649	0.786	D	0.68765	0.96	T	0.00695	-1.1606	10	0.87932	D	0	-21.9376	11.0697	0.47995	1.0:0.0:0.0:0.0	.	128	Q9BXS1	IDI2_HUMAN	T	128	ENSP00000277517:I128T	ENSP00000277517:I128T	I	-	2	0	IDI2	1055758	0.998000	0.40836	0.010000	0.14722	0.628000	0.37860	7.533000	0.81994	1.611000	0.50210	0.155000	0.16302	ATT	IDI2	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.363	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	A	NM_033261		1065758	-1	no_errors	ENST00000277517	ensembl	human	known	70_37	missense	SNP	0.252	G	G	1065758	A	G	1065758	3	3	98	1	0	0	0	0	1	0	0	0	7520	101	4	5	304	5	IDI2	10	1065758	Missense_Mutation	SNP	A	TCGA-EK-A2PI-01A-11D-A18J-09		1065758	134468989	49	14396										
CWF19L1	55280	genome.wustl.edu	37	chr10	102010025	102010025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctttttcttttctggatttcCaacatttgccagagctataa	5	9	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:102010025C>G	ENST00000354105.4	-	7	774	c.688G>C	c.(688-690)Gga>Cga	p.G230R	CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	230							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCTGGATTTCCAACATTTGCC	0.363																																																	0													135	127	130					10																	102010025		2203	4300	6503	SO:0001583	missense	55280			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.688G>C	10.37:g.102010025C>G	ENSP00000326411:p.Gly230Arg		B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.G230R	ENST00000354105.4	37	c.688	CCDS7489.1	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419097	0.83559	.	.	ENSG00000095485	ENST00000354105	T	0.33654	1.4	5.4	5.4	0.78164	.	0.199234	0.53938	D	0.000051	T	0.61311	0.2337	M	0.85777	2.775	0.51012	D	0.999906	D;D	0.69078	0.997;0.991	P;P	0.59643	0.861;0.813	T	0.66240	-0.5973	10	0.56958	D	0.05	-14.8231	17.0241	0.86441	0.0:1.0:0.0:0.0	.	93;230	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	R	230	ENSP00000326411:G230R	ENSP00000326411:G230R	G	-	1	0	CWF19L1	102000015	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.692000	0.54727	2.687000	0.91594	0.563000	0.77884	GGA	CWF19L1	-	NULL		0.363	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding		C	NM_018294		102010025	-1	no_errors	ENST00000354105	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102010025	C	G	102010025	3	3	98	1	0	0	0	0	1	0	0	0	4076	603	21	4	960	4	CWF19L1	10	102010025	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	100944267	102010025	33524722	50	14397										
GFRA1	2674	genome.wustl.edu	37	chr10	117823975	117823975	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	accaggaccagcagtgggctCagaccacagcttggaggagc	14	12	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:117823975C>G	ENST00000355422.6	-	11	1882	c.1332G>C	c.(1330-1332)ctG>ctC	p.L444L	GFRA1_ENST00000544592.1_Silent_p.L323L|GFRA1_ENST00000439649.3_Silent_p.L439L|GFRA1_ENST00000369236.1_Silent_p.L439L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	444					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GCAGTGGGCTCAGACCACAGC	0.428																																					Ovarian(128;329 1725 45498 46808 50759)												0													171	138	149					10																	117823975		2203	4300	6503	SO:0001819	synonymous_variant	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1332G>C	10.37:g.117823975C>G			A8KA21|O15507|O43912	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.L444	ENST00000355422.6	37	c.1332	CCDS44481.1	10																																																																																			GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.428	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	C	NM_145793		117823975	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	silent	SNP	0.996	G	G	117823975	C	G	117823975	2	3	98	1	0	0	0	0	0	0	0	1	6366	813	29	1		1	GFRA1	10	117823975	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	15813950	117823975	17710772	51	14398										
IRF7	3665	genome.wustl.edu	37	chr11	613857	613857	+	Missense_Mutation	SNP	C	C	T													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gtgcggggactctggggccgCggcctcgcctgcatccggaa					rs544913425		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:613857C>T	ENST00000397574.2	-	8	1144	c.775G>A	c.(775-777)Gcg>Acg	p.A259T	IRF7_ENST00000525445.1_Missense_Mutation_p.A153T|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Missense_Mutation_p.A230T|IRF7_ENST00000330243.5_Missense_Mutation_p.A272T|IRF7_ENST00000397566.1_Missense_Mutation_p.A272T|IRF7_ENST00000397570.1_Missense_Mutation_p.A230T	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	259					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGGGGCCGCGGCCTCGCCT	0.682																																																	0													23	25	25					11																	613857		2186	4292	6478	SO:0001583	missense	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.775G>A	11.37:g.613857C>T	ENSP00000380704:p.Ala259Thr		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.A272T	ENST00000397574.2	37	c.814	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.622624	0.00820	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.95918	-2.93;-3.85;-3.85;-3.82;-3.85;-3.82	2.06	-4.12	0.03916	.	.	.	.	.	D	0.83857	0.5345	N	0.08118	0	0.21184	N	0.999761	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.69363	-0.5165	9	0.21540	T	0.41	0.0069	0.7963	0.01067	0.2214:0.1284:0.2052:0.445	.	153;230;259;272	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	T	153;230;230;272;259;272	ENSP00000434009:A153T;ENSP00000331803:A230T;ENSP00000380700:A230T;ENSP00000380697:A272T;ENSP00000380704:A259T;ENSP00000329411:A272T	ENSP00000329411:A272T	A	-	1	0	IRF7	603857	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.447000	0.06828	-2.787000	0.00358	-2.024000	0.00429	GCG	IRF7	-	NULL		0.682	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	C	NM_001572		613857	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	missense	SNP	0.000	T	T	613857	C	T	613857	3	4	98	1	0	0	0	0	1	0	0	0	7855	768	27	2	752	2	IRF7	11	613857	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		613857	134392659	52	14399	78	2								
IRF7	3665	genome.wustl.edu	37	chr11	613863	613863	+	Nonsense_Mutation	SNP	C	C	A													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ggactctggggccgcggcctCgcctgcatccggaagggaat							TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:613863C>A	ENST00000397574.2	-	8	1138	c.769G>T	c.(769-771)Gag>Tag	p.E257*	IRF7_ENST00000525445.1_Nonsense_Mutation_p.E151*|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Nonsense_Mutation_p.E228*|IRF7_ENST00000330243.5_Nonsense_Mutation_p.E270*|IRF7_ENST00000397566.1_Nonsense_Mutation_p.E270*|IRF7_ENST00000397570.1_Nonsense_Mutation_p.E228*	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	257					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGCGGCCTCGCCTGCATCC	0.677																																																	0													23	26	25					11																	613863		2188	4293	6481	SO:0001587	stop_gained	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.769G>T	11.37:g.613863C>A	ENSP00000380704:p.Glu257*		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Nonsense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E270*	ENST00000397574.2	37	c.808	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.655867	0.96724	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	.	.	.	1.58	0.439	0.16567	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	5.9926	0.19476	0.0:0.5259:0.4741:0.0	.	.	.	.	X	151;228;228;270;257;270	.	ENSP00000329411:E270X	E	-	1	0	IRF7	603863	0.001000	0.12720	0.001000	0.08648	0.031000	0.12232	0.434000	0.21494	0.124000	0.18369	0.313000	0.20887	GAG	IRF7	-	NULL		0.677	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	C	NM_001572		613863	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	613863	C	A	613863	4	1	98	1	0	0	0	0	0	1	0	0	7855	893	31	3	758	3	IRF7	11	613863	Nonsense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	6	613863	134392653	53	14400	78	2								
OR8H3	390152	genome.wustl.edu	37	chr11	55890080	55890080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	acctcagttactcaactgtcGtcacacctaaaaccttagcg	5	14	3	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:55890080G>A	ENST00000313472.3	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCAACTGTCGTCACACCTAA	0.448																																																	0													277	274	275					11																	55890080		2201	4293	6494	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.232G>A	11.37:g.55890080G>A	ENSP00000323928:p.Val78Ile		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V78I	ENST00000313472.3	37	c.232	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023386	0.00414	.	.	ENSG00000181761	ENST00000313472	T	0.01406	4.93	3.44	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	N	0.000047	T	0.00666	0.0022	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49031	-0.8981	10	0.02654	T	1	.	7.2605	0.26201	0.7163:0.0:0.2837:0.0	.	78	Q8N146	OR8H3_HUMAN	I	78	ENSP00000323928:V78I	ENSP00000323928:V78I	V	+	1	0	OR8H3	55646656	0.001000	0.12720	0.784000	0.31847	0.223000	0.24884	1.399000	0.34566	0.334000	0.23590	-1.467000	0.01014	GTC	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	G	NM_001005201		55890080	1	no_errors	ENST00000313472	ensembl	human	known	70_37	missense	SNP	0.003	A	A	55890080	G	A	55890080	3	1	98	1	0	0	0	0	1	0	0	0	11263	1145	40	2	234	2	OR8H3	11	55890080	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	55276217	55890080	79116436	54	14401										
RTN4RL2	349667	genome.wustl.edu	37	chr11	57235468	57235468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tgcagtcgctgcatttgtacCgctgccagctcagcagcctg	11	14	1	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:57235468C>T	ENST00000533205.1	+	2	427	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R140C|RTN4RL2_ENST00000335099.3_Missense_Mutation_p.R140C					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCATTTGTACCGCTGCCAGCT	0.652																																																	0													48	49	48					11																	57235468		2201	4296	6497	SO:0001583	missense	349667			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.418C>T	11.37:g.57235468C>T	ENSP00000435606:p.Arg140Cys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R140C	ENST00000533205.1	37	c.418		11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340377	0.81911	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;T;T	0.57907	0.37;0.37;0.37	4.81	4.81	0.61882	.	0.360823	0.19498	N	0.112809	T	0.72598	0.3480	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76061	-0.3097	10	0.87932	D	0	.	17.8619	0.88784	0.0:1.0:0.0:0.0	.	140	Q86UN3	R4RL2_HUMAN	C	140	ENSP00000335397:R140C;ENSP00000435606:R140C;ENSP00000378552:R140C	ENSP00000335397:R140C	R	+	1	0	RTN4RL2	56992044	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.648000	0.46647	2.390000	0.81377	0.561000	0.74099	CGC	RTN4RL2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.652	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	RTN4RL2	HGNC	protein_coding	OTTHUMT00000392538.1	C	NM_178570		57235468	1	no_errors	ENST00000335099	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57235468	C	T	57235468	3	4	98	1	0	0	0	0	1	0	0	0	13762	652	23	2	424	2	RTN4RL2	11	57235468	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	1345388	57235468	77771048	55	14402										
CHKA	1119	genome.wustl.edu	37	chr11	67838320	67838320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	attcttcagtatctaatcgcCggctctgaaaaagaaaaggg	9	8	4	2	rs368477871		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:67838320C>T	ENST00000265689.4	-	5	661	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	CHKA_ENST00000356135.5_Missense_Mutation_p.R194Q	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	212					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	ATCTAATCGCCGGCTCTGAAA	0.363																																																	0								C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	75	70	72		635,581	4.9	1	11		72	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	CHKA	NM_001277.2,NM_212469.1	43,43	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	212/458,194/440	67838320	1,12987	2200	4294	6494	SO:0001583	missense	1119			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"choline kinase"	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.635G>A	11.37:g.67838320C>T	ENSP00000265689:p.Arg212Gln		Q8NE29	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.R212Q	ENST00000265689.4	37	c.635	CCDS8178.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.564418	0.96527	0.0	1.16E-4	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.61510	0.1;0.1;0.1	4.88	4.88	0.63580	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.938;0.971	T	0.81818	-0.0758	10	0.72032	D	0.01	-24.2571	18.2087	0.89863	0.0:1.0:0.0:0.0	.	194;212	P35790-2;P35790	.;CHKA_HUMAN	Q	212;194;90	ENSP00000265689:R212Q;ENSP00000348454:R194Q;ENSP00000435032:R90Q	ENSP00000265689:R212Q	R	-	2	0	CHKA	67594896	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.566000	0.82347	2.521000	0.84997	0.561000	0.74099	CGG	CHKA	-	superfamily_Kinase-like_dom		0.363	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHKA	HGNC	protein_coding	OTTHUMT00000394570.1	C	NM_001277		67838320	-1	no_errors	ENST00000265689	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67838320	C	T	67838320	3	4	98	1	0	0	0	0	1	0	0	0	3352	652	23	2	770	2	CHKA	11	67838320	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	10602852	67838320	67168196	56	14403										
ANKRD42	338699	genome.wustl.edu	37	chr11	82921454	82921454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tttacaaataatgctccgaaGtggagtggtgagtgactcct	11	7	0	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:82921454G>T	ENST00000393392.2	+	4	521	c.359G>T	c.(358-360)aGt>aTt	p.S120I	ANKRD42_ENST00000260047.6_Missense_Mutation_p.S148I|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393389.3_Missense_Mutation_p.S148I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.S148I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.S148I|ANKRD42_ENST00000528722.1_Missense_Mutation_p.S35I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.S148I	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	120					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATGCTCCGAAGTGGAGTGGTG	0.408																																																	0													148	144	145					11																	82921454		2203	4300	6503	SO:0001583	missense	338699			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.359G>T	11.37:g.82921454G>T	ENSP00000377051:p.Ser120Ile		Q49A49	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S120I	ENST00000393392.2	37	c.359	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941578	0.73557	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.82526	-0.18;-1.62;-0.18;-0.18;-0.18;-0.18;-0.18	5.89	3.92	0.45320	Ankyrin repeat-containing domain (4);	0.068663	0.64402	D	0.000008	D	0.84647	0.5518	L	0.49571	1.57	0.39922	D	0.974162	P;P;D;P;P	0.56968	0.922;0.73;0.978;0.922;0.922	P;B;P;P;P	0.57846	0.702;0.376;0.828;0.702;0.724	D	0.84254	0.0479	9	.	.	.	-3.621	10.7153	0.46008	0.0729:0.1316:0.7956:0.0	.	148;148;413;239;120	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	I	467;148;35;148;148;148;120;148	ENSP00000377049:S148I;ENSP00000432375:S35I;ENSP00000260047:S148I;ENSP00000433585:S148I;ENSP00000434666:S148I;ENSP00000377051:S120I;ENSP00000435790:S148I	.	S	+	2	0	ANKRD42	82599102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.855000	0.48333	1.491000	0.48482	0.655000	0.94253	AGT	ANKRD42	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.408	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	G	NM_182603		82921454	1	no_errors	ENST00000393392	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82921454	G	T	82921454	3	4	98	1	0	0	0	0	1	0	0	0	670	1029	36	4	373	4	ANKRD42	11	82921454	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	15083134	82921454	52085062	57	14404										
PDE3A	5139	genome.wustl.edu	37	chr12	20766487	20766487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ccaaacgtgtgcacatccttGagagccgtgagcaacttgct	10	12	0	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:20766487G>C	ENST00000359062.3	+	3	1162	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	374					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCACATCCTTGAGAGCCGTGA	0.552																																																	0													108	98	102					12																	20766487		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1122G>C	12.37:g.20766487G>C	ENSP00000351957:p.Leu374Phe		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L374F	ENST00000359062.3	37	c.1122	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358511	0.82243	.	.	ENSG00000172572	ENST00000359062	T	0.53206	0.63	5.87	4.97	0.65823	.	1.328570	0.05953	N	0.639161	T	0.71005	0.3289	M	0.73598	2.24	0.49798	D	0.999822	D	0.76494	0.999	D	0.87578	0.998	T	0.60772	-0.7197	10	0.87932	D	0	.	12.1153	0.53861	0.1342:0.0:0.8658:0.0	.	374	Q14432	PDE3A_HUMAN	F	374	ENSP00000351957:L374F	ENSP00000351957:L374F	L	+	3	2	PDE3A	20657754	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	TTG	PDE3A	-	NULL		0.552	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	G			20766487	1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20766487	G	C	20766487	3	2	98	1	0	0	0	0	1	0	0	0	11661	1281	45	1	1132	1	PDE3A	12	20766487	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		20766487	113085408	58	14405										
DENND5B	160518	genome.wustl.edu	37	chr12	31555446	31555446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	acctacctcaaaggtcatttCgaggaggtttttgggaatct	10	8	3	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:31555446C>T	ENST00000389082.5	-	15	3199	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	DENND5B_ENST00000306833.6_Missense_Mutation_p.E1014K|DENND5B_ENST00000536562.1_Missense_Mutation_p.E1014K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	979	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGGTCATTTCGAGGAGGTTT	0.408																																																	0													171	166	167					12																	31555446		1854	4118	5972	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2935G>A	12.37:g.31555446C>T	ENSP00000373734:p.Glu979Lys		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E1014K	ENST00000389082.5	37	c.3040	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755383	0.89843	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.64618	-0.11;-0.11;-0.11	4.2	4.2	0.49525	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.126247	0.51477	D	0.000092	T	0.76343	0.3974	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.981	T	0.79978	-0.1575	10	0.72032	D	0.01	-31.6079	16.7435	0.85466	0.0:1.0:0.0:0.0	.	979;1014	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	979;1014;1014	ENSP00000373734:E979K;ENSP00000306482:E1014K;ENSP00000444889:E1014K	ENSP00000306482:E1014K	E	-	1	0	DENND5B	31446713	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	7.398000	0.79919	2.174000	0.68829	0.655000	0.94253	GAA	DENND5B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pfscan_LipOase_LH2		0.408	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31555446	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31555446	C	T	31555446	3	4	98	1	0	0	0	0	1	0	0	0	4447	893	31	1	917	1	DENND5B	12	31555446	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	10788959	31555446	102296449	59	14406										
KRT6B	3854	genome.wustl.edu	37	chr12	52843279	52843279	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctggtaccaggactcagcctCagccctgctcctctgagcaa	9	16	3	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:52843279C>G	ENST00000252252.3	-	5	1098	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	351	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GACTCAGCCTCAGCCCTGCTC	0.557																																																	0													223	197	206					12																	52843279		2203	4300	6503	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1051G>C	12.37:g.52843279C>G	ENSP00000252252:p.Glu351Gln		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E351Q	ENST00000252252.3	37	c.1051	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817306	0.70912	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.90563	-2.69	3.05	3.05	0.35203	Filament (1);	0.000000	0.64402	D	0.000011	D	0.95971	0.8688	M	0.92412	3.305	0.50171	D	0.999858	D	0.76494	0.999	D	0.70016	0.967	D	0.97124	0.9813	10	0.87932	D	0	.	15.3938	0.74774	0.0:1.0:0.0:0.0	.	351	P04259	K2C6B_HUMAN	Q	351;311	ENSP00000252252:E351Q	ENSP00000252252:E351Q	E	-	1	0	KRT6B	51129546	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.476000	0.81055	2.042000	0.60477	0.298000	0.19748	GAG	KRT6B	-	pfam_F,superfamily_Prefoldin		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	C	NM_005555		52843279	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52843279	C	G	52843279	3	3	98	1	0	0	0	0	1	0	0	0	8501	835	29	1	663	1	KRT6B	12	52843279	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	21287833	52843279	81008616	60	14407										
KRT4	3851	genome.wustl.edu	37	chr12	53202174	53202174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttcttcaggttgtcaccatgTtggtcaaccgagatctggag	11	9	5	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:53202174T>C	ENST00000551956.1	-	6	1521	c.1029A>G	c.(1027-1029)caA>caG	p.Q343Q	KRT4_ENST00000458244.2_Silent_p.Q323Q|KRT4_ENST00000293774.4_Silent_p.Q417Q			P19013	K2C4_HUMAN	keratin 4	357	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGTCACCATGTTGGTCAACCG	0.507																																					Pancreas(190;284 2995 41444 45903)												0													108	110	109					12																	53202174		2193	4298	6491	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1029A>G	12.37:g.53202174T>C			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Q417	ENST00000551956.1	37	c.1251	CCDS41787.2	12																																																																																			KRT4	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.507	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	T	NM_002272		53202174	-1	no_errors	ENST00000293774	ensembl	human	known	70_37	silent	SNP	0.003	C	C	53202174	T	C	53202174	2	2	98	1	0	0	0	0	0	0	0	1	8497	1722	60	5		5	KRT4	12	53202174	Silent	SNP	T	TCGA-EK-A2PI-01A-11D-A18J-09	358895	53202174	80649721	61	14408										
NBEA	26960	genome.wustl.edu	37	chr13	36026233	36026233	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tttttgttgtgattaggcacGgaagaagatgtagtaaagtc	12	3	0	3	rs199826709	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr13:36026233G>T	ENST00000400445.3	+	40	6843	c.6309G>T	c.(6307-6309)acG>acT	p.T2103T	NBEA_ENST00000540320.1_Silent_p.T2103T|NBEA_ENST00000379939.2_Silent_p.T2100T|NBEA_ENST00000310336.4_Silent_p.T2103T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.T2103T(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTAGGCACGGAAGAAGATG	0.313																																																	1	Substitution - coding silent(1)	lung(1)											77	71	73					13																	36026233		1867	4091	5958	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6309G>T	13.37:g.36026233G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T2103	ENST00000400445.3	37	c.6309	CCDS45026.1	13																																																																																			NBEA	-	pfam_DUF1088		0.313	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		36026233	1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	0.997	T	T	36026233	G	T	36026233	2	4	98	1	0	0	0	0	0	0	0	1	10210	1103	39	2		2	NBEA	13	36026233	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		36026233	79143645	62	14409										
TSSK4	283629	genome.wustl.edu	37	chr14	24676444	24676444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gatggtgccttctaaccagcCtgtgggttgtagcccttctt	11	11	2	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr14:24676444C>T	ENST00000287913.6	+	3	701	c.533C>T	c.(532-534)cCt>cTt	p.P178L	TSSK4_ENST00000339917.5_Missense_Mutation_p.P188L|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000556621.1_Missense_Mutation_p.P102L|CHMP4A_ENST00000542700.2_5'Flank			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TCTAACCAGCCTGTGGGTTGT	0.502																																																	0													217	182	193					14																	24676444		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.533C>T	14.37:g.24676444C>T	ENSP00000287913:p.Pro178Leu		Q2TA60|Q6ZNM2	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.P188L	ENST00000287913.6	37	c.563	CCDS9618.1	14	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.597836	0.00857	.	.	ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913	T;T;T	0.71103	-0.51;-0.39;-0.54	5.2	3.37	0.38596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.893166	0.09550	N	0.787086	T	0.56485	0.1988	N	0.25890	0.77	0.09310	N	0.999999	B;B;P	0.39576	0.043;0.053;0.679	B;B;B	0.36030	0.031;0.053;0.216	T	0.45760	-0.9239	10	0.54805	T	0.06	.	8.2404	0.31656	0.3196:0.5259:0.1545:0.0	.	188;178;108	Q6SA08-2;Q6SA08;Q8IZN1	.;TSSK4_HUMAN;.	L	188;102;178	ENSP00000339179:P188L;ENSP00000452054:P102L;ENSP00000287913:P178L	ENSP00000287913:P178L	P	+	2	0	TSSK4	23746284	0.091000	0.21658	0.304000	0.25085	0.083000	0.17756	0.381000	0.20619	0.764000	0.33197	-0.152000	0.13540	CCT	TSSK4	-	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		0.502	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSSK4	HGNC	protein_coding	OTTHUMT00000073139.3	C	NM_174944		24676444	1	no_errors	ENST00000339917	ensembl	human	known	70_37	missense	SNP	0.003	T	T	24676444	C	T	24676444	3	4	98	1	0	0	0	0	1	0	0	0	16702	681	24	4	573	4	TSSK4	14	24676444	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		24676444	82673096	63	14410										
NYNRIN	57523	genome.wustl.edu	37	chr14	24886634	24886634	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	agtggcaccccgctgtccttCaaggtcttggagcagtgagc	13	12	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr14:24886634C>T	ENST00000382554.3	+	9	5997	c.5679C>T	c.(5677-5679)ttC>ttT	p.F1893F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1893					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGCTGTCCTTCAAGGTCTTGG	0.627																																																	0													8	9	9					14																	24886634		1899	4100	5999	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5679C>T	14.37:g.24886634C>T			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.F1893	ENST00000382554.3	37	c.5679	CCDS45090.1	14																																																																																			NYNRIN	-	NULL		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24886634	1	no_errors	ENST00000382554	ensembl	human	known	70_37	silent	SNP	0.360	T	T	24886634	C	T	24886634	2	4	98	1	0	0	0	0	0	0	0	1	10820	825	29	1		1	NYNRIN	14	24886634	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	210190	24886634	82462906	64	14411										
CEP152	22995	genome.wustl.edu	37	chr15	49031343	49031343	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aagttacaagctgccctcctCttgggagcttgttcgcacag	10	12	1	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:49031343C>T	ENST00000380950.2	-	27	4423	c.4236G>A	c.(4234-4236)aaG>aaA	p.K1412K	CEP152_ENST00000399334.3_Silent_p.K1356K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1412					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCCTCCTCTTGGGAGCTT	0.403																																																	0													161	148	152					15																	49031343		1888	4115	6003	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4236G>A	15.37:g.49031343C>T			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	NULL	p.K1412	ENST00000380950.2	37	c.4236	CCDS58361.1	15																																																																																			CEP152	-	NULL		0.403	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	C	NM_014985		49031343	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	silent	SNP	0.153	T	T	49031343	C	T	49031343	2	4	98	1	0	0	0	0	0	0	0	1	3253	912	32	1		1	CEP152	15	49031343	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		49031343	53500049	65	14412										
RFX7	64864	genome.wustl.edu	37	chr15	56435016	56435016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctgtttgggcagtgaagtctCcggatgttcctctagggtat	13	8	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:56435016C>T	ENST00000559447.2	-	4	341	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RFX7_ENST00000423270.1_Missense_Mutation_p.E121K|RFX7_ENST00000422057.1_Missense_Mutation_p.E24K|RFX7_ENST00000317318.6_Missense_Mutation_p.E121K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	24					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGAAGTCTCCGGATGTTCC	0.393																																																	0													84	80	81					15																	56435016		1889	4120	6009	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.70G>A	15.37:g.56435016C>T	ENSP00000453281:p.Glu24Lys		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.E121K	ENST00000559447.2	37	c.361		15	.	.	.	.	.	.	.	.	.	.	C	34	5.338477	0.95783	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.82526	-1.62;-1.62;-1.62	6.02	6.02	0.97574	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.85318	0.5669	N	0.17723	0.515	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	D	0.86469	0.1784	10	0.59425	D	0.04	-15.2651	18.0409	0.89318	0.0:1.0:0.0:0.0	.	24	Q2KHR2	RFX7_HUMAN	K	24;121;121	ENSP00000387504:E24K;ENSP00000313299:E121K;ENSP00000397644:E121K	ENSP00000313299:E121K	E	-	1	0	RFX7	54222308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.850000	0.98022	0.650000	0.86243	GAG	RFX7	-	pfam_DNA-bd_RFX		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	C	NM_022841		56435016	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56435016	C	T	56435016	3	4	98	1	0	0	0	0	1	0	0	0	13298	864	30	1	4045	1	RFX7	15	56435016	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	7403673	56435016	46096376	66	14413										
IGDCC4	57722	genome.wustl.edu	37	chr15	65676429	65676429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	atttgagctggcagctatctCcaggggtctcctctagcacc	10	13	3	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:65676429C>T	ENST00000352385.2	-	20	3880	c.3671G>A	c.(3670-3672)gGa>gAa	p.G1224E	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCAGCTATCTCCAGGGGTCTC	0.652																																																	0													25	30	28					15																	65676429		2201	4298	6499	SO:0001583	missense	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3671G>A	15.37:g.65676429C>T	ENSP00000319623:p.Gly1224Glu		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1224E	ENST00000352385.2	37	c.3671	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357840	0.41801	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.63580	-0.05	5.2	4.27	0.50696	.	0.000000	0.44688	D	0.000430	T	0.49762	0.1576	L	0.32530	0.975	0.30949	N	0.724946	B	0.21225	0.053	B	0.22152	0.038	T	0.56661	-0.7942	10	0.66056	D	0.02	-24.0077	10.0609	0.42275	0.0:0.9047:0.0:0.0953	.	1224	Q8TDY8	IGDC4_HUMAN	E	1224;953	ENSP00000319623:G1224E	ENSP00000319623:G1224E	G	-	2	0	IGDCC4	63463482	0.876000	0.30132	0.994000	0.49952	0.005000	0.04900	1.106000	0.31098	2.426000	0.82243	0.655000	0.94253	GGA	IGDCC4	-	NULL		0.652	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	C	NM_020962		65676429	-1	no_errors	ENST00000352385	ensembl	human	novel	70_37	missense	SNP	0.839	T	T	65676429	C	T	65676429	3	4	98	1	0	0	0	0	1	0	0	0	7589	855	30	1	85	1	IGDCC4	15	65676429	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	9241413	65676429	36854963	67	14414										
GRIN2A	2903	genome.wustl.edu	37	chr16	9862723	9862723	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctgaccctgctgatggagaaGagcaacccaggccggtcgga	14	12	0	4	rs201007843		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:9862723G>C	ENST00000396573.2	-	13	2889	c.2580C>G	c.(2578-2580)ctC>ctG	p.L860L	GRIN2A_ENST00000404927.2_Silent_p.L860L|GRIN2A_ENST00000330684.3_Silent_p.L860L|GRIN2A_ENST00000535259.1_Silent_p.L703L|GRIN2A_ENST00000562109.1_Silent_p.L860L|GRIN2A_ENST00000396575.2_Silent_p.L860L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	860					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGATGGAGAAGAGCAACCCAG	0.562																																																	0													95	103	100					16																	9862723		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2580C>G	16.37:g.9862723G>C			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L860	ENST00000396573.2	37	c.2580	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C		0.562	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	G			9862723	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	0.987	C	C	9862723	G	C	9862723	2	2	98	1	0	0	0	0	0	0	0	1	6799	929	33	1		1	GRIN2A	16	9862723	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		9862723	80492030	68	14415										
RRN3	54700	genome.wustl.edu	37	chr16	15188041	15188041	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gcttcttaactgcagaggacGaagcggccgcatctcccggc	12	14	2	1	rs142932327	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:15188041G>T	ENST00000198767.6	-	1	133	c.50C>A	c.(49-51)tCg>tAg	p.S17*	PDXDC1_ENST00000535621.2_Intron|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000564131.1_Nonsense_Mutation_p.S17*|RRN3_ENST00000429751.2_Nonsense_Mutation_p.S17*|RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000563559.1_Nonsense_Mutation_p.S17*	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	17					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGCAGAGGACGAAGCGGCCGC	0.632																																																	0													22	19	20					16																	15188041		2197	4298	6495	SO:0001587	stop_gained	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.50C>A	16.37:g.15188041G>T	ENSP00000198767:p.Ser17*		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Nonsense_Mutation	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.S17*	ENST00000198767.6	37	c.50	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	.	19.46	3.832449	0.71258	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.35418	D	0.792972	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8894	0.41281	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000198767:S17X	S	-	2	0	RRN3	15095542	0.031000	0.19500	0.006000	0.13384	0.006000	0.05464	2.744000	0.47450	1.752000	0.51891	0.305000	0.20034	TCG	RRN3	-	NULL		0.632	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	G	NM_018427		15188041	-1	no_errors	ENST00000198767	ensembl	human	known	70_37	nonsense	SNP	0.004	T	T	15188041	G	T	15188041	4	4	98	1	0	0	0	0	0	1	0	0	13714	1059	37	3	1977	3	RRN3	16	15188041	Nonsense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	5325318	15188041	75166712	69	14416										
SRCAP	10847	genome.wustl.edu	37	chr16	30733487	30733487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	agttagcctcactggcacaaCgtccagtggctaatgcaggg	12	11	1	0	rs375393051		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:30733487C>T	ENST00000262518.4	+	22	3971	c.3586C>T	c.(3586-3588)Cgt>Tgt	p.R1196C	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1196C|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1100C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1196	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACTGGCACAACGTCCAGTGGC	0.547																																																	0													133	108	116					16																	30733487		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3586C>T	16.37:g.30733487C>T	ENSP00000262518:p.Arg1196Cys		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R1196C	ENST00000262518.4	37	c.3586	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930095	0.73327	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92397	-3.03;-2.9;-2.93	4.68	4.68	0.58851	.	0.000000	0.48767	D	0.000171	D	0.92760	0.7698	N	0.24115	0.695	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.994;0.987	D	0.93923	0.7207	10	0.66056	D	0.02	-8.3383	16.5291	0.84353	0.0:1.0:0.0:0.0	.	1100;1196;1196	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	C	1196;1196;1100	ENSP00000262518:R1196C;ENSP00000378499:R1196C;ENSP00000343042:R1100C	ENSP00000262518:R1196C	R	+	1	0	SRCAP	30640988	0.997000	0.39634	0.998000	0.56505	0.993000	0.82548	3.691000	0.54720	2.414000	0.81942	0.462000	0.41574	CGT	SRCAP	-	NULL		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30733487	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30733487	C	T	30733487	3	4	98	1	0	0	0	0	1	0	0	0	15165	536	19	2	3664	2	SRCAP	16	30733487	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	15545446	30733487	59621266	70	14417										
MMP2	4313	genome.wustl.edu	37	chr16	55525827	55525827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cacctacaccaagaacttccGtctgtcccaggatgacatca	6	15	2	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:55525827G>C	ENST00000219070.4	+	8	1804	c.1295G>C	c.(1294-1296)cGt>cCt	p.R432P	MMP2_ENST00000543485.1_Missense_Mutation_p.R356P|MMP2_ENST00000437642.2_Missense_Mutation_p.R382P|MMP2_ENST00000570308.1_Missense_Mutation_p.R356P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	432	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AAGAACTTCCGTCTGTCCCAG	0.617																																																	0													51	52	52					16																	55525827		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1295G>C	16.37:g.55525827G>C	ENSP00000219070:p.Arg432Pro		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.R432P	ENST00000219070.4	37	c.1295	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458197	0.43634	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.22539	1.95;1.95;1.95	5.23	5.23	0.72850	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	N	0.22421	0.69	0.80722	D	1	B;D	0.89917	0.027;1.0	B;D	0.87578	0.03;0.998	T	0.06215	-1.0839	10	0.22109	T	0.4	.	18.807	0.92041	0.0:0.0:1.0:0.0	.	382;432	E9PE45;P08253	.;MMP2_HUMAN	P	432;356;382	ENSP00000219070:R432P;ENSP00000444143:R356P;ENSP00000394237:R382P	ENSP00000219070:R432P	R	+	2	0	MMP2	54083328	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.005000	0.57075	2.442000	0.82660	0.467000	0.42956	CGT	MMP2	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.617	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	G			55525827	1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55525827	G	C	55525827	3	2	98	1	0	0	0	0	1	0	0	0	9681	1145	40	2	1332	2	MMP2	16	55525827	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	24792340	55525827	34828926	71	14418										
POLR2A	5430	genome.wustl.edu	37	chr17	7388154	7388154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	catcaagagagtccagttcgGagtcctgagtccggatgaac	12	10	1	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:7388154G>C	ENST00000322644.6	+	1	470	c.71G>C	c.(70-72)gGa>gCa	p.G24A	POLR2A_ENST00000572844.1_Missense_Mutation_p.G24A|ZBTB4_ENST00000311403.4_5'Flank	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	24					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTCCAGTTCGGAGTCCTGAGT	0.716																																																	0													39	35	36					17																	7388154		2196	4300	6496	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.71G>C	17.37:g.7388154G>C	ENSP00000314949:p.Gly24Ala		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.G24A	ENST00000322644.6	37	c.71	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016898	0.93404	.	.	ENSG00000181222	ENST00000322644	T	0.70045	-0.45	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 1 (1);	0.056508	0.64402	D	0.000001	D	0.84252	0.5431	M	0.87097	2.86	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.987	D	0.86234	0.1639	10	0.72032	D	0.01	.	17.0222	0.86437	0.0:0.0:1.0:0.0	.	24;24	P24928;Q6NX41	RPB1_HUMAN;.	A	24	ENSP00000314949:G24A	ENSP00000314949:G24A	G	+	2	0	SLC35G6	7328878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.379000	0.79691	2.757000	0.94681	0.655000	0.94253	GGA	POLR2A	-	pfam_RNA_pol_Rpb1_1		0.716	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	G	NM_000937		7388154	1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7388154	G	C	7388154	3	2	98	1	0	0	0	0	1	0	0	0	12238	1174	41	1	73	1	POLR2A	17	7388154	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		7388154	73807056	72	14419										
MYH10	4628	genome.wustl.edu	37	chr17	8449919	8449919	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ccgaccttgatccggggagtCaggatggcccgagtaaactc	13	12	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:8449919C>G	ENST00000269243.4	-	11	1329	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000379980.4_Silent_p.L413L|MYH10_ENST00000360416.3_Silent_p.L407L|MYH10_ENST00000396239.1_Silent_p.L397L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	397	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCGGGGAGTCAGGATGGCCC	0.433																																																	0													91	79	83					17																	8449919		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1191G>C	17.37:g.8449919C>G			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L397	ENST00000269243.4	37	c.1191	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8449919	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	0.196	G	G	8449919	C	G	8449919	2	3	98	1	0	0	0	0	0	0	0	1	10053	813	29	1		1	MYH10	17	8449919	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	1061765	8449919	72745291	73	14420										
AATK	9625	genome.wustl.edu	37	chr17	79094811	79094811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gaggtggagagccgtgtctcGggcccggggccctcaccctc	16	15	2	1	rs550286805		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:79094811G>A	ENST00000326724.4	-	11	2949	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	AATK_ENST00000417379.1_Silent_p.P872P	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	975					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCGTGTCTCGGGCCCGGGGC	0.632																																																	0													19	22	21					17																	79094811		1906	4105	6011	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2925C>T	17.37:g.79094811G>A			O75136|Q6ZN31|Q86X28	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P975	ENST00000326724.4	37	c.2925	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019403	0.02078	.	.	ENSG00000181409	ENST00000417379	.	.	.	4.45	-8.9	0.00782	.	0.904525	0.09423	N	0.804123	T	0.20941	0.0504	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.51188	T	0.08	.	0.7629	0.01010	0.3764:0.1569:0.255:0.2117	.	.	.	.	L	928	.	ENSP00000398796:P928L	P	-	2	0	AATK	76709406	0.000000	0.05858	0.006000	0.13384	0.045000	0.14185	-6.190000	0.00076	-1.925000	0.01063	-0.368000	0.07277	CCG	AATK	-	NULL		0.632	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	G	NM_004920		79094811	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	silent	SNP	0.000	A	A	79094811	G	A	79094811	2	1	98	1	0	0	0	0	0	0	0	1	26	1103	39	2		2	AATK	17	79094811	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	70644892	79094811	2100399	74	14421										
BAHCC1	57597	genome.wustl.edu	37	chr17	79410443	79410443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gtgcccgcagcagggagcacGacaccacgcacggcgacggg	16	15	0	0	rs566509890		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:79410443G>A	ENST00000307745.7	+	9	2068	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N																								CAGGGAGCACGACACCACGCA	0.672													G|||	1	0.000199681	0	0	5008	,	,		16553	0		0.001	False		,,,				2504	0																0													9	11	10					17																	79410443		2057	4172	6229	SO:0001583	missense	57597																														ENST00000307745.7:c.2068G>A	17.37:g.79410443G>A	ENSP00000303486:p.Asp690Asn			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.D690N	ENST00000307745.7	37	c.2068		17	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711175	0.48517	.	.	ENSG00000171282	ENST00000307745	T	0.11930	2.73	4.24	3.27	0.37495	.	.	.	.	.	T	0.09949	0.0244	L	0.44542	1.39	0.09310	N	0.999997	P	0.40398	0.716	B	0.28011	0.085	T	0.16988	-1.0384	9	0.27785	T	0.31	.	10.9798	0.47488	0.0939:0.0:0.9061:0.0	.	690	Q9P281	BAHC1_HUMAN	N	690	ENSP00000303486:D690N	ENSP00000303486:D690N	D	+	1	0	AC110285.1	77025038	0.685000	0.27652	0.049000	0.19019	0.240000	0.25518	2.899000	0.48679	1.002000	0.39104	0.563000	0.77884	GAC	BAHCC1	-	NULL		0.672	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79410443	1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.378	A	A	79410443	G	A	79410443	3	1	98	1	0	0	0	0	1	0	0	0	1297	1058	37	1	1917	1	BAHCC1	17	79410443	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	315632	79410443	1784767	75	14422										
ARHGAP28	79822	genome.wustl.edu	37	chr18	6912104	6912104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttatatattggatgtatatcGtataaatcctcaagcagaat	6	5	1	1	rs374272304		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr18:6912104G>A	ENST00000383472.4	+	18	2245	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R555H|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R550H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R555H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	714					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GATGTATATCGTATAAATCCT	0.373																																																	0								G	HIS/ARG	0,4406		0,0,2203	82	79	80		1664	3.6	0.7	18		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP28	NM_001010000.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	555/571	6912104	1,13005	2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.2141G>A	18.37:g.6912104G>A	ENSP00000372964:p.Arg714His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R555H	ENST00000383472.4	37	c.1664		18	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498019	0.26861	0.0	1.16E-4	ENSG00000088756	ENST00000419673;ENST00000531294;ENST00000314319	T;T;T	0.07327	3.2;3.21;3.2	5.96	3.63	0.41609	.	.	.	.	.	T	0.03053	0.0090	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37056	-0.9722	9	0.07325	T	0.83	.	8.1143	0.30933	0.7627:0.0:0.2373:0.0	.	714	Q9P2N2	RHG28_HUMAN	H	555;550;555	ENSP00000392660:R555H;ENSP00000437262:R550H;ENSP00000313506:R555H	ENSP00000313506:R555H	R	+	2	0	ARHGAP28	6902104	1.000000	0.71417	0.729000	0.30791	0.805000	0.45488	0.712000	0.25779	0.526000	0.28541	-0.302000	0.09304	CGT	ARHGAP28	-	NULL		0.373	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	G	XM_371108		6912104	1	no_errors	ENST00000314319	ensembl	human	known	70_37	missense	SNP	0.739	A	A	6912104	G	A	6912104	3	1	98	1	0	0	0	0	1	0	0	0	877	1145	40	2	1869	2	ARHGAP28	18	6912104	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		6912104	71165144	76	14423										
GNA15	2769	genome.wustl.edu	37	chr19	3157769	3157769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	attgtttgggactatcctggAactaccctggttcaaaagca	9	9	1	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:3157769A>G	ENST00000262958.3	+	6	1046	c.788A>G	c.(787-789)gAa>gGa	p.E263G	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	263					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACTATCCTGGAACTACCCTGG	0.532																																																	0													268	225	240					19																	3157769		2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.788A>G	19.37:g.3157769A>G	ENSP00000262958:p.Glu263Gly		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.E263G	ENST00000262958.3	37	c.788	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303986	0.23736	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.62	3.58	0.41010	.	0.152382	0.42964	D	0.000639	T	0.80592	0.4652	N	0.21282	0.65	0.31857	N	0.621455	B	0.02656	0.0	B	0.09377	0.004	T	0.77230	-0.2664	10	0.72032	D	0.01	.	9.5274	0.39173	0.8218:0.1782:0.0:0.0	.	263	P30679	GNA15_HUMAN	G	263	ENSP00000262958:E263G	ENSP00000262958:E263G	E	+	2	0	GNA15	3108769	1.000000	0.71417	0.375000	0.26029	0.294000	0.27393	4.978000	0.63799	0.625000	0.30304	0.445000	0.29226	GAA	GNA15	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.532	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	A	NM_002068		3157769	1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.913	G	G	3157769	A	G	3157769	3	3	98	1	0	0	0	0	1	0	0	0	6522	246	9	5	810	5	GNA15	19	3157769	Missense_Mutation	SNP	A	TCGA-EK-A2PI-01A-11D-A18J-09		3157769	55971214	77	14424										
HAPLN4	404037	genome.wustl.edu	37	chr19	19369456	19369456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ctcccggtcccccccaggccGccgcagggctcccggggccg	14	22	0	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:19369456G>A	ENST00000291481.7	-	4	756	c.693C>T	c.(691-693)ggC>ggT	p.G231G	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	231	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCCCCAGGCCGCCGCAGGGCT	0.726																																																	0													17	19	19					19																	19369456		2198	4291	6489	SO:0001819	synonymous_variant	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.693C>T	19.37:g.19369456G>A			A5PKW5|Q96PW2	Silent	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.G231	ENST00000291481.7	37	c.693	CCDS12398.1	19																																																																																			HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.726	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	G	NM_023002		19369456	-1	no_errors	ENST00000291481	ensembl	human	known	70_37	silent	SNP	0.993	A	A	19369456	G	A	19369456	2	1	98	1	0	0	0	0	0	0	0	1	6977	1074	38	2		2	HAPLN4	19	19369456	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	16211687	19369456	39759527	78	14425										
ZNF793	390927	genome.wustl.edu	37	chr19	38024296	38024296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	aggcagcatgcccgggctgcCactgttggggtaagtgtgat	16	9	0	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:38024296C>T	ENST00000587143.1	+	5	464	c.229C>T	c.(229-231)Cac>Tac	p.H77Y	ZNF793_ENST00000542455.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000445217.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000587986.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000589319.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000588578.1_Missense_Mutation_p.H77Y			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCGGGCTGCCACTGTTGGGG	0.493																																					Melanoma(44;400 1431 1499 19093)												0													71	73	72					19																	38024296		1928	4130	6058	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.229C>T	19.37:g.38024296C>T	ENSP00000468605:p.His77Tyr		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H77Y	ENST00000587143.1	37	c.229	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748724	0.15710	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.06768	3.26;3.26	3.46	1.07	0.20283	Krueppel-associated box (1);	0.463064	0.16068	N	0.231155	T	0.02848	0.0085	N	0.17474	0.49	0.23754	N	0.996936	P;B	0.35745	0.518;0.376	B;B	0.29176	0.099;0.042	T	0.32402	-0.9908	10	0.02654	T	1	.	3.4884	0.07629	0.2502:0.6118:0.0:0.138	.	77;77	Q6ZN11;E9PGN4	ZN793_HUMAN;.	Y	77;77;77;76	ENSP00000444355:H77Y;ENSP00000396402:H77Y	ENSP00000318811:H76Y	H	+	1	0	ZNF793	42716136	0.312000	0.24545	0.992000	0.48379	0.814000	0.46013	-0.158000	0.10070	0.766000	0.33244	0.462000	0.41574	CAC	ZNF793	-	pfscan_Krueppel-associated_box		0.493	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	C	NM_001013659		38024296	1	no_errors	ENST00000445217	ensembl	human	known	70_37	missense	SNP	0.953	T	T	38024296	C	T	38024296	3	4	98	1	0	0	0	0	1	0	0	0	18195	594	21	4	239	4	ZNF793	19	38024296	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	18654840	38024296	21104687	79	14426										
CCDC114	93233	genome.wustl.edu	37	chr19	48807308	48807308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gctccaggtgcaagatctgcCgctgcaggacctgcgcctcc	12	16	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:48807308C>T	ENST00000315396.7	-	7	1326	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	215					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CAAGATCTGCCGCTGCAGGAC	0.642																																																	0													82	81	81					19																	48807308		2203	4300	6503	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.644G>A	19.37:g.48807308C>T	ENSP00000318429:p.Arg215Gln		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.R215Q	ENST00000315396.7	37	c.644	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050791	0.55218	.	.	ENSG00000105479	ENST00000315396	T	0.37411	1.2	3.26	3.26	0.37387	.	.	.	.	.	T	0.57066	0.2028	M	0.79011	2.435	0.37122	D	0.900889	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.922;0.947	T	0.65615	-0.6125	9	0.59425	D	0.04	-12.03	10.1568	0.42827	0.0:1.0:0.0:0.0	.	8;215;215	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	Q	215	ENSP00000318429:R215Q	ENSP00000318429:R215Q	R	-	2	0	CCDC114	53499120	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	2.242000	0.43106	1.837000	0.53436	0.591000	0.81541	CGG	CCDC114	-	NULL		0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	C	NM_144577		48807308	-1	no_errors	ENST00000315396	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48807308	C	T	48807308	3	4	98	1	0	0	0	0	1	0	0	0	2756	652	23	2	1400	2	CCDC114	19	48807308	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	10783012	48807308	10321675	80	14427										
BFSP1	631	genome.wustl.edu	37	chr20	17475568	17475568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ggtgcatcttccagagctccGttggttttgtcttttgttat	10	8	2	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr20:17475568G>A	ENST00000377873.3	-	8	1188	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	BFSP1_ENST00000544874.1_Silent_p.N244N|BFSP1_ENST00000536626.1_Silent_p.N244N|BFSP1_ENST00000377868.2_Silent_p.N258N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	383	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CCAGAGCTCCGTTGGTTTTGT	0.408																																																	0													143	145	144					20																	17475568		2203	4300	6503	SO:0001819	synonymous_variant	631			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1149C>T	20.37:g.17475568G>A			F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	pfam_F,superfamily_Prefoldin	p.N383	ENST00000377873.3	37	c.1149	CCDS13126.1	20																																																																																			BFSP1	-	NULL		0.408	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	G	NM_001195		17475568	-1	no_errors	ENST00000377873	ensembl	human	known	70_37	silent	SNP	0.000	A	A	17475568	G	A	17475568	2	1	98	1	0	0	0	0	0	0	0	1	1416	1136	40	2		2	BFSP1	20	17475568	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		17475568	45549952	81	14428										
CST5	1473	genome.wustl.edu	37	chr20	23860155	23860155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttaatgaccttgttgtactcGctgatggcaaagtccagggc	11	9	0	2	rs572425129		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr20:23860155G>A	ENST00000304710.4	-	1	232	c.159C>T	c.(157-159)agC>agT	p.S53S		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	53					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGTTGTACTCGCTGATGGCAA	0.582													g|||	1	0.000199681	0	0	5008	,	,		17238	0.001		0	False		,,,				2504	0																0													217	198	205					20																	23860155		2203	4300	6503	SO:0001819	synonymous_variant	1473				CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.159C>T	20.37:g.23860155G>A			Q5JRF5|Q9UCA0	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.S53	ENST00000304710.4	37	c.159	CCDS13162.1	20																																																																																			CST5	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.582	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST5	HGNC	protein_coding	OTTHUMT00000078355.2	G	NM_001900		23860155	-1	no_errors	ENST00000304710	ensembl	human	known	70_37	silent	SNP	0.000	A	A	23860155	G	A	23860155	2	1	98	1	0	0	0	0	0	0	0	1	3980	1078	38	2		2	CST5	20	23860155	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	6384587	23860155	39165365	82	14429										
IFT52	51098	genome.wustl.edu	37	chr20	42247631	42247631	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	catgtcacatgttcagtgatCaatatttggacaaagaagaa	8	6	3	3			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr20:42247631C>G	ENST00000373030.3	+	8	794	c.664C>G	c.(664-666)Caa>Gaa	p.Q222E	IFT52_ENST00000373039.4_Missense_Mutation_p.Q222E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	222					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTTCAGTGATCAATATTTGGA	0.343																																																	0													111	99	103					20																	42247631		2203	4300	6503	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.664C>G	20.37:g.42247631C>G	ENSP00000362121:p.Gln222Glu		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	pfam_ABC_transp_unknown	p.Q222E	ENST00000373030.3	37	c.664	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146718	0.37923	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.97	4.97	0.65823	.	0.053824	0.85682	D	0.000000	T	0.52419	0.1733	L	0.48174	1.505	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.51490	-0.8699	9	0.02654	T	1	-13.2823	17.4122	0.87489	0.0:1.0:0.0:0.0	.	222	Q9Y366	IFT52_HUMAN	E	222	.	ENSP00000362121:Q222E	Q	+	1	0	IFT52	41681045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.621000	0.83083	2.478000	0.83669	0.650000	0.86243	CAA	IFT52	-	NULL		0.343	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	C	NM_016004		42247631	1	no_errors	ENST00000373030	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42247631	C	G	42247631	3	3	98	1	0	0	0	0	1	0	0	0	7581	827	29	1	690	1	IFT52	20	42247631	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	18387476	42247631	20777889	83	14430										
BACH1	571	genome.wustl.edu	37	chr21	30701994	30701994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	ttgactgtatacagaatcttGaatcagaaattgagaagctg	9	5	2	5			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr21:30701994G>A	ENST00000399921.1	+	4	1999	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	BACH1_ENST00000286800.3_Missense_Mutation_p.E586K	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACAGAATCTTGAATCAGAAAT	0.338																																																	0													24	24	24					21																	30701994		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1756G>A	21.37:g.30701994G>A	ENSP00000382805:p.Glu586Lys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E586K	ENST00000399921.1	37	c.1756	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669140	0.88348	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	D;D	0.92199	-2.99;-2.99	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.065049	0.64402	D	0.000007	D	0.95993	0.8695	M	0.79123	2.44	0.58432	D	0.999999	P	0.49961	0.93	D	0.63597	0.916	D	0.95934	0.8941	10	0.72032	D	0.01	-20.8652	19.6984	0.96043	0.0:0.0:1.0:0.0	.	586	O14867	BACH1_HUMAN	K	586	ENSP00000286800:E586K;ENSP00000382805:E586K	ENSP00000286800:E586K	E	+	1	0	BACH1	29623865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.720000	0.61944	2.660000	0.90430	0.650000	0.86243	GAA	BACH1	-	pfam_bZIP,smart_bZIP,pfscan_bZIP		0.338	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	G	NM_206866		30701994	1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30701994	G	A	30701994	3	1	98	1	0	0	0	0	1	0	0	0	1284	1291	45	1	1766	1	BACH1	21	30701994	Missense_Mutation	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09		30701994	17427901	84	14431										
U2AF1	7307	genome.wustl.edu	37	chr21	44527584	44527584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	tctttctcggtgccgaagatGgaggccagatactccgccat	11	12	2	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr21:44527584G>A	ENST00000291552.4	-	1	113	c.21C>T	c.(19-21)tcC>tcT	p.S7S	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Silent_p.S7S|U2AF1_ENST00000459639.1_5'Flank|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	7					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGCCGAAGATGGAGGCCAGAT	0.731			Mis		"CLL, MDS"																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													19	23	22					21																	44527584		2201	4299	6500	SO:0001819	synonymous_variant	7307			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.21C>T	21.37:g.44527584G>A			Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.S7	ENST00000291552.4	37	c.21	CCDS13694.1	21																																																																																			U2AF1	-	NULL		0.731	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	G	NM_006758		44527584	-1	no_errors	ENST00000291552	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44527584	G	A	44527584	2	1	98	1	0	0	0	0	0	0	0	1	16852	1335	47	4		4	U2AF1	21	44527584	Silent	SNP	G	TCGA-EK-A2PI-01A-11D-A18J-09	13825590	44527584	3602311	85	14432										
KRTAP10-1	386677	genome.wustl.edu	37	chr21	45959905	45959905	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	actggggtgcagaccagggtCaggcagggggccggggcgca	21	10	1	1			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr21:45959905C>G	ENST00000400375.1	-	1	173	c.129G>C	c.(127-129)ctG>ctC	p.L43L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	43	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGACCAGGGTCAGGCAGGGGG	0.706																																																	0													45	54	51					21																	45959905		2201	4280	6481	SO:0001819	synonymous_variant	386677			AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.129G>C	21.37:g.45959905C>G			Q0VAR0|Q0VAR1	Silent	SNP	NULL	p.L43	ENST00000400375.1	37	c.129	CCDS42954.1	21																																																																																			KRTAP10-1	-	NULL		0.706	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-1	HGNC	protein_coding	OTTHUMT00000128030.1	C			45959905	-1	no_errors	ENST00000400375	ensembl	human	known	70_37	silent	SNP	0.600	G	G	45959905	C	G	45959905	2	3	98	1	0	0	0	0	0	0	0	1	8525	813	29	1		1	KRTAP10-1	21	45959905	Silent	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	1432321	45959905	2169990	86	14433										
CDC45	8318	genome.wustl.edu	37	chr22	19470334	19470334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gccagtcaatgtcgtcaatgTatacaacgatacccaggtac	8	11	2	0			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr22:19470334T>C	ENST00000407835.1	+	5	582	c.326T>C	c.(325-327)gTa>gCa	p.V109A	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.V109A|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000263201.1_Missense_Mutation_p.V109A			O75419	CDC45_HUMAN	cell division cycle 45	109					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCGTCAATGTATACAACGAT	0.413																																																	0													295	251	266					22																	19470334		2203	4300	6503	SO:0001583	missense	8318			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.326T>C	22.37:g.19470334T>C	ENSP00000385240:p.Val109Ala		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.V109A	ENST00000407835.1	37	c.326	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427749	0.43122	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000455750;ENST00000437685;ENST00000263201	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.52	5.52	0.82312	.	0.172020	0.51477	D	0.000097	T	0.56001	0.1956	M	0.84326	2.69	0.80722	D	1	B;P;B;P	0.49862	0.004;0.929;0.002;0.916	B;P;B;B	0.59115	0.009;0.852;0.009;0.423	T	0.61955	-0.6956	10	0.62326	D	0.03	-23.8443	15.6255	0.76851	0.0:0.0:0.0:1.0	.	109;104;109;109	E9PDH7;B4E092;B4DDU3;O75419	.;.;.;CDC45_HUMAN	A	109;97;109;109;109	ENSP00000385240:V109A;ENSP00000397434:V97A;ENSP00000413138:V109A;ENSP00000405726:V109A;ENSP00000263201:V109A	ENSP00000263201:V109A	V	+	2	0	CDC45	17850334	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	5.941000	0.70195	2.085000	0.62840	0.482000	0.46254	GTA	CDC45	-	pfam_CDC45		0.413	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	T	NM_003504		19470334	1	no_errors	ENST00000437685	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19470334	T	C	19470334	3	2	98	1	0	0	0	0	1	0	0	0	3086	1638	57	5	340	5	CDC45	22	19470334	Missense_Mutation	SNP	T	TCGA-EK-A2PI-01A-11D-A18J-09		19470334	31834232	87	14434										
EFCAB6	64800	genome.wustl.edu	37	chr22	44028049	44028049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	cttctgcggtgataaagtggCtgttcacgtaactttttgaa	10	7	2	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr22:44028049C>A	ENST00000262726.7	-	19	2421	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S571I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATAAAGTGGCTGTTCACGTA	0.522																																																	0													115	118	117					22																	44028049		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2168G>T	22.37:g.44028049C>A	ENSP00000262726:p.Ser723Ile		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S723I	ENST00000262726.7	37	c.2168	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156083	0.21454	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15372	2.43;2.43	4.37	-0.27	0.12926	EF-hand-like domain (1);	0.767473	0.11966	N	0.512233	T	0.19765	0.0475	L	0.47716	1.5	0.09310	N	1	P;D	0.54397	0.899;0.966	P;P	0.53809	0.735;0.641	T	0.12760	-1.0535	10	0.38643	T	0.18	-1.3671	3.7236	0.08466	0.0:0.4843:0.1867:0.329	.	571;723	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	I	571;723	ENSP00000379533:S571I;ENSP00000262726:S723I	ENSP00000262726:S723I	S	-	2	0	EFCAB6	42359382	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.393000	0.20817	-0.053000	0.13289	-0.229000	0.12294	AGC	EFCAB6	-	NULL		0.522	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		44028049	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.000	A	A	44028049	C	A	44028049	3	1	98	1	0	0	0	0	1	0	0	0	4949	797	28	4	2393	4	EFCAB6	22	44028049	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09	24557715	44028049	7276517	88	14435										
PHKA2	5256	genome.wustl.edu	37	chrX	18961874	18961874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	gaacatgaatcactgacttgCgtcctccatgggctccaaaa	8	12	1	2			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chrX:18961874C>T	ENST00000379942.4	-	7	1336	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	224					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CACTGACTTGCGTCCTCCATG	0.468																																																	0													210	170	184					X																	18961874		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.671G>A	X.37:g.18961874C>T	ENSP00000369274:p.Arg224His		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R224H	ENST00000379942.4	37	c.671	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027548	0.54683	.	.	ENSG00000044446	ENST00000379942	D	0.93604	-3.25	5.71	5.71	0.89125	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.105846	0.64402	D	0.000007	D	0.83445	0.5256	N	0.11106	0.095	0.38884	D	0.956965	B	0.13145	0.007	B	0.13407	0.009	T	0.77795	-0.2454	10	0.32370	T	0.25	-13.9267	5.6733	0.17735	0.0:0.6774:0.1869:0.1357	.	224	P46019	KPB2_HUMAN	H	224	ENSP00000369274:R224H	ENSP00000369274:R224H	R	-	2	0	PHKA2	18871795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.919000	0.48836	2.402000	0.81655	0.600000	0.82982	CGC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.468	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18961874	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18961874	C	T	18961874	3	4	98	1	0	0	0	0	1	0	0	0	11868	768	27	2	3144	2	PHKA2	23	18961874	Missense_Mutation	SNP	C	TCGA-EK-A2PI-01A-11D-A18J-09		18961874	136308686	89	14436										
PLXNB3	5365	genome.wustl.edu	37	chrX	153042690	153042691	+	Frame_Shift_Ins	INS	-	-	G													0.224719101123595	20	0.00125759877601636	2.1166253101737	4.24570135746606	1.31230769230769	0.76661329679273	0.929518622361185	11	acgctggaggatggcgaggaINSggggggggtgtgcctctggc							TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chrX:153042690_153042691insG	ENST00000361971.5	+	30	5069_5070	c.4955_4956insG	c.(4954-4959)gaggggfs	p.EG1652fs	PLXNB3_ENST00000538966.1_Frame_Shift_Ins_p.EG1675fs|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.EG1305fs|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1652					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCGAGGAGGGGGGGGTGT	0.693																																																	0																																										SO:0001589	frameshift_variant	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4963dupG	X.37:g.153042698_153042698dupG	ENSP00000355378:p.Glu1652fs		B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1678fs	ENST00000361971.5	37	c.5024_5025	CCDS14729.1	X																																																																																			PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.693	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-			153042691	1	no_errors	ENST00000538966	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.849	G	G	153042691	-	G	153042690	7	5	98	1	0	1	1	0	0	0	0	0	12149	304	11	0	5187	0	PLXNB3	23	153042690	Frame_Shift_Ins	INS	-	TCGA-EK-A2PI-01A-11D-A18J-09	134080816	153042690	2227870	90	14437										
SLCO6A1	133482	genome.wustl.edu	37	chr5	101755603	101755603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aataataaacacaagcagtaTaagtgatatcacagatgtaa	6	5	1	2			TCGA-EK-A2PK-01A-11D-A18J-09	TCGA-EK-A2PK-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b3b3a27c-ee9a-42af-a6d1-9af5970a98b9	607f3f40-63e5-4182-b77b-2a2b11991004	g.chr5:101755603T>G	ENST00000506729.1	-	8	1570	c.1399A>C	c.(1399-1401)Ata>Cta	p.I467L	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.I467L|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.I405L|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	467						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACAAGCAGTATAAGTGATATC	0.358																																																	0													105	110	108					5																	101755603		2203	4300	6503	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1399A>C	5.37:g.101755603T>G	ENSP00000421339:p.Ile467Leu		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.I467L	ENST00000506729.1	37	c.1399	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	T	7.192	0.591785	0.13812	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.78816	-1.21;-1.21;-1.21	4.81	-8.9	0.00782	Major facilitator superfamily domain, general substrate transporter (1);	1.622580	0.03492	N	0.216769	T	0.43255	0.1239	N	0.04320	-0.23	0.09310	N	1	B;B	0.30563	0.045;0.285	B;B	0.27262	0.023;0.078	T	0.50432	-0.8829	10	0.02654	T	1	.	3.1917	0.06619	0.1277:0.4527:0.129:0.2907	.	405;467	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	L	467;467;405	ENSP00000421339:I467L;ENSP00000369135:I467L;ENSP00000373671:I405L	ENSP00000369135:I467L	I	-	1	0	SLCO6A1	101783502	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.916000	0.01576	-1.371000	0.02141	-0.290000	0.09829	ATA	SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.358	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	T	NM_173488		101755603	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	missense	SNP	0.000	G	G	101755603	T	G	101755603	3	3	99	1	0	0	0	0	1	0	0	0	14762	1406	49	5	784	5	SLCO6A1	5	101755603	Missense_Mutation	SNP	T	TCGA-EK-A2PK-01A-11D-A18J-09		101755603	79159657	1	14438										
CDHR2	54825	genome.wustl.edu	37	chr5	176016617	176016617	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caacagacaggcgattaatgCgtaggtctggggagccccgg	15	10	1	1			TCGA-EK-A2PK-01A-11D-A18J-09	TCGA-EK-A2PK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b3b3a27c-ee9a-42af-a6d1-9af5970a98b9	607f3f40-63e5-4182-b77b-2a2b11991004	g.chr5:176016617C>T	ENST00000510636.1	+	24	3480	c.3206C>T	c.(3205-3207)gCg>gTg	p.A1069V	CDHR2_ENST00000506348.1_Splice_Site_p.A1069V|CDHR2_ENST00000261944.5_Splice_Site_p.A1069V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1069					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCGATTAATGCGTAGGTCTGG	0.612																																																	0													31	36	35					5																	176016617		2203	4300	6503	SO:0001630	splice_region_variant	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3206+1C>T	5.37:g.176016617C>T			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1069V	ENST00000510636.1	37	c.3206	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	c	6.154	0.396605	0.11638	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56103	0.48;0.48;0.48	4.81	-6.64	0.01801	.	.	.	.	.	T	0.40015	0.1100	L	0.57536	1.79	0.09310	N	1	B	0.28258	0.205	B	0.19666	0.026	T	0.20438	-1.0275	9	0.28530	T	0.3	-3.2087	9.2182	0.37360	0.6539:0.2535:0.0:0.0926	.	1069	Q9BYE9	CDHR2_HUMAN	V	1069	ENSP00000424565:A1069V;ENSP00000261944:A1069V;ENSP00000421078:A1069V	ENSP00000261944:A1069V	A	+	2	0	CDHR2	175949223	0.000000	0.05858	0.015000	0.15790	0.011000	0.07611	-2.137000	0.01304	-1.224000	0.02581	-2.122000	0.00348	GCG	CDHR2	-	NULL		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675	Missense_Mutation	176016617	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.002	T	T	176016617	C	T	176016617	5	4	99	1	0	0	0	0	0	0	1	0	3124	782	27	2	3296	2	CDHR2	5	176016617	Splice_Site	SNP	C	TCGA-EK-A2PK-01A-11D-A18J-09	74261014	176016617	4898643	2	14439										
SORBS3	10174	genome.wustl.edu	37	chr8	22414398	22414398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcgggcccgtggacgagagcGgcatgcccattgccccccga	14	16	0	1			TCGA-EK-A2PK-01A-11D-A18J-09	TCGA-EK-A2PK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b3b3a27c-ee9a-42af-a6d1-9af5970a98b9	607f3f40-63e5-4182-b77b-2a2b11991004	g.chr8:22414398G>T	ENST00000240123.7	+	4	774	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C	SORBS3_ENST00000523402.1_Missense_Mutation_p.G131C	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	131	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGACGAGAGCGGCATGCCCAT	0.632																																																	0													55	54	54					8																	22414398		2203	4300	6503	SO:0001583	missense	10174				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.391G>T	8.37:g.22414398G>T	ENSP00000240123:p.Gly131Cys		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.G131C	ENST00000240123.7	37	c.391	CCDS6031.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.485642|4.485642	0.84854|0.84854	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523402|ENST00000520563;ENST00000524057	T|.	0.38722|.	1.12|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Sorbin-like (3);|.	0.000000|.	0.43919|.	D|.	0.000518|.	T|T	0.73385|0.73385	0.3580|0.3580	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.74137|0.74137	-0.3762|-0.3762	10|5	0.87932|.	D|.	0|.	-24.8161|-24.8161	15.0347|15.0347	0.71734|0.71734	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	131|.	O60504|.	VINEX_HUMAN|.	C|L	131|85;67	ENSP00000240123:G131C|.	ENSP00000240123:G131C|.	G|R	+|+	1|2	0|0	SORBS3|SORBS3	22470343|22470343	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	6.885000|6.885000	0.75606|0.75606	2.237000|2.237000	0.73441|0.73441	0.650000|0.650000	0.86243|0.86243	GGC|CGG	SORBS3	-	pfam_Sorb,smart_Sorb,pfscan_Sorb		0.632	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	G	NM_005775		22414398	1	no_errors	ENST00000240123	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22414398	G	T	22414398	3	4	99	1	0	0	0	0	1	0	0	0	14959	1116	39	2	401	2	SORBS3	8	22414398	Missense_Mutation	SNP	G	TCGA-EK-A2PK-01A-11D-A18J-09		22414398	123949624	3	14440										
ZNF181	339318	genome.wustl.edu	37	chr19	35232521	35232522	+	Frame_Shift_Ins	INS	-	-	AC													0	0	1	0	NA	0	1	1	0	gaatgcaacaaatgtctgaaINSagtctttagtagcctctcat							TCGA-EK-A2PK-01A-11D-A18J-09	TCGA-EK-A2PK-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b3b3a27c-ee9a-42af-a6d1-9af5970a98b9	607f3f40-63e5-4182-b77b-2a2b11991004	g.chr19:35232521_35232522insAC	ENST00000492450.1	+	4	1324_1325	c.1235_1236insAC	c.(1234-1239)aaagtcfs	p.V413fs	ZNF181_ENST00000392232.3_Frame_Shift_Ins_p.V457fs|ZNF181_ENST00000459757.2_Frame_Shift_Ins_p.V412fs			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAATGTCTGAAAGTCTTTAGTA	0.386																																																	0																																										SO:0001589	frameshift_variant	339318			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	Exception_encountered	19.37:g.35232521_35232522insAC	ENSP00000420727:p.Val413fs		B7ZKX3|Q49A75	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V457fs	ENST00000492450.1	37	c.1367_1368	CCDS32990.2	19																																																																																			ZNF181	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.386	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	HGNC	protein_coding	OTTHUMT00000349005.3	-	NM_001029997		35232522	1	no_errors	ENST00000392232	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.861	AC	AC	35232522	-	AC	35232521	7	5	99	1	0	1	1	0	0	0	0	0	17779	14	1	0	1249	0	ZNF181	19	35232521	Frame_Shift_Ins	INS	-	TCGA-EK-A2PK-01A-11D-A18J-09		35232521	23896462	4	14441										
PEX14	5195	genome.wustl.edu	37	chr1	10689808	10689808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgggcccccaggaggaaggcGagggggtggtggacgtcaag	21	8	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:10689808G>A	ENST00000356607.4	+	9	978	c.898G>A	c.(898-900)Gag>Aag	p.E300K	PEX14_ENST00000538836.1_Missense_Mutation_p.E236K	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	300					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGAAGGCGAGGGGGTGGT	0.652																																																	0													136	125	129					1																	10689808		2191	4288	6479	SO:0001583	missense	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.898G>A	1.37:g.10689808G>A	ENSP00000349016:p.Glu300Lys		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.E300K	ENST00000356607.4	37	c.898	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	G	8.971	0.972977	0.18736	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.22743	1.95;1.94	4.7	3.78	0.43462	.	0.554792	0.19724	N	0.107512	T	0.10937	0.0267	N	0.21448	0.665	0.26588	N	0.973252	B;B	0.17268	0.021;0.002	B;B	0.14023	0.01;0.001	T	0.32295	-0.9912	10	0.10636	T	0.68	.	5.5007	0.16827	0.0784:0.1483:0.6337:0.1396	.	257;300	O75381-2;O75381	.;PEX14_HUMAN	K	300;236	ENSP00000349016:E300K;ENSP00000444877:E236K	ENSP00000349016:E300K	E	+	1	0	PEX14	10612395	0.442000	0.25633	0.958000	0.39756	0.870000	0.49936	0.794000	0.26958	1.084000	0.41184	0.563000	0.77884	GAG	PEX14	-	NULL		0.652	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	G			10689808	1	no_errors	ENST00000356607	ensembl	human	known	70_37	missense	SNP	0.947	A	A	10689808	G	A	10689808	3	1	100	1	0	0	0	0	1	0	0	0	11766	1059	37	1	932	1	PEX14	1	10689808	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		10689808	238560813	1	14442										
NIPAL3	57185	genome.wustl.edu	37	chr1	24787009	24787009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	acttcatcggggaggacgtgCtgcacatctgcatgtttgca	12	10	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:24787009C>T	ENST00000374399.4	+	10	1269	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	NIPAL3_ENST00000003912.3_Silent_p.L219L|NIPAL3_ENST00000339255.2_Silent_p.L301L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	301						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGAGGACGTGCTGCACATCTG	0.498																																																	0													168	137	148					1																	24787009		2203	4300	6503	SO:0001819	synonymous_variant	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.901C>T	1.37:g.24787009C>T			A2A298|Q6MZT9|Q9BVE6	Silent	SNP	pfam_Mg_trans_NIPA	p.L301	ENST00000374399.4	37	c.901	CCDS30631.1	1																																																																																			NIPAL3	-	pfam_Mg_trans_NIPA		0.498	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	C	NM_020448		24787009	1	no_errors	ENST00000374399	ensembl	human	known	70_37	silent	SNP	0.999	T	T	24787009	C	T	24787009	2	4	100	1	0	0	0	0	0	0	0	1	10450	796	28	4		4	NIPAL3	1	24787009	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	14097201	24787009	224463612	2	14443										
NRD1	4898	genome.wustl.edu	37	chr1	52287195	52287195	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tggtatctgagagaagatttCagtcacccacttttccaaag	8	9	3	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:52287195C>T	ENST00000354831.7	-	10	1585	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	NRD1_ENST00000539524.1_Missense_Mutation_p.E334K|NRD1_ENST00000544028.1_Missense_Mutation_p.E266K|NRD1_ENST00000352171.7_Missense_Mutation_p.E398K|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	397					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GAGAAGATTTCAGTCACCCAC	0.373																																																	0													106	100	102					1																	52287195		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1396G>A	1.37:g.52287195C>T	ENSP00000346890:p.Glu466Lys		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E466K	ENST00000354831.7	37	c.1396	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839347	0.71488	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.51	5.51	0.81932	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.086986	0.85682	D	0.000000	T	0.06690	0.0171	N	0.25789	0.76	0.80722	D	1	P;P;P	0.40398	0.669;0.716;0.716	B;B;B	0.38225	0.175;0.268;0.268	T	0.45381	-0.9265	10	0.33940	T	0.23	-14.4364	17.5924	0.88000	0.0:1.0:0.0:0.0	.	398;397;466	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	K	398;466;334;398;266	ENSP00000262679:E398K;ENSP00000346890:E466K;ENSP00000444416:E334K;ENSP00000442262:E266K	ENSP00000262679:E398K	E	-	1	0	NRD1	52059783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.113000	0.77095	2.577000	0.86979	0.655000	0.94253	GAA	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	C	NM_002525		52287195	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52287195	C	T	52287195	3	4	100	1	0	0	0	0	1	0	0	0	10669	835	29	1	2359	1	NRD1	1	52287195	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	27500186	52287195	196963426	3	14444										
WLS	79971	genome.wustl.edu	37	chr1	68614246	68614246	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcccacaaacacttgctcacCtctcacacatgtcaaatatg	3	15	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:68614246C>T	ENST00000262348.4	-	7	1323	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	WLS_ENST00000370976.3_Splice_Site_p.R266K|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Splice_Site_p.R355K|WLS_ENST00000540432.1_Splice_Site_p.R357K|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	357					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ACTTGCTCACCTCTCACACAT	0.522																																																	0													126	88	101					1																	68614246		2203	4300	6503	SO:0001630	splice_region_variant	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1070+1G>A	1.37:g.68614246C>T			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.R357K	ENST00000262348.4	37	c.1070	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.932042	0.97116	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.72625	0.972;0.978;0.926;0.972	T	0.59257	-0.7488	9	.	.	.	-4.3446	20.6634	0.99662	0.0:1.0:0.0:0.0	.	357;266;357;355	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	K	357;355;357;266	ENSP00000446112:R357K;ENSP00000346829:R355K;ENSP00000262348:R357K;ENSP00000360015:R266K	.	R	-	2	0	WLS	68386834	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.453000	0.80700	2.894000	0.99253	0.655000	0.94253	AGA	WLS	-	NULL		0.522	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	C	NM_024911	Missense_Mutation	68614246	-1	no_errors	ENST00000540432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68614246	C	T	68614246	5	4	100	1	0	0	0	0	0	0	1	0	17407	695	24	4	705	4	WLS	1	68614246	Splice_Site	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	16327051	68614246	180636375	4	14445										
GBP7	388646	genome.wustl.edu	37	chr1	89618015	89618015	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atggggtgtccatctaacttCagctccagggtaaaatctcg	10	10	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:89618015C>G	ENST00000294671.2	-	5	699	c.561G>C	c.(559-561)ctG>ctC	p.L187L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	187	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CATCTAACTTCAGCTCCAGGG	0.468																																																	0													142	141	141					1																	89618015		2203	4300	6503	SO:0001819	synonymous_variant	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.561G>C	1.37:g.89618015C>G				Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L187	ENST00000294671.2	37	c.561	CCDS720.1	1																																																																																			GBP7	-	pfam_Guanylate-bd_N		0.468	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	C	NM_207398		89618015	-1	no_errors	ENST00000294671	ensembl	human	known	70_37	silent	SNP	0.995	G	G	89618015	C	G	89618015	2	3	100	1	0	0	0	0	0	0	0	1	6298	813	29	1		1	GBP7	1	89618015	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	21003769	89618015	159632606	5	14446										
HFM1	164045	genome.wustl.edu	37	chr1	91790314	91790314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tataataccaagccatcaatCttcctgcttctgtaagaaaa	4	10	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:91790314C>T	ENST00000370425.3	-	21	2443	c.2345G>A	c.(2344-2346)aGa>aAa	p.R782K	HFM1_ENST00000294696.5_Missense_Mutation_p.R14K|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R461K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	782	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCCATCAATCTTCCTGCTTC	0.343																																																	0													42	45	44					1																	91790314		2199	4300	6499	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2345G>A	1.37:g.91790314C>T	ENSP00000359454:p.Arg782Lys		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R782K	ENST00000370425.3	37	c.2345	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.06|14.06	2.421923|2.421923	0.43020|0.43020	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.62498	.|0.02;0.02;0.02	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Sec63 domain (2);	.|0.109437	.|0.64402	.|D	.|0.000008	T|T	0.36608|0.36608	0.0973|0.0973	L|L	0.31664|0.31664	0.95|0.95	0.31707|0.31707	N|N	0.640027|0.640027	.|B;P;P	.|0.41498	.|0.195;0.752;0.51	.|B;B;B	.|0.42462	.|0.096;0.388;0.336	T|T	0.28038|0.28038	-1.0056|-1.0056	5|10	.|0.23302	.|T	.|0.38	.|.	12.5745|12.5745	0.56355|0.56355	0.0:0.9238:0.0:0.0762|0.0:0.9238:0.0:0.0762	.|.	.|461;37;782	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	N|K	38|782;14;461;466	.|ENSP00000359454:R782K;ENSP00000294696:R14K;ENSP00000359453:R461K	.|ENSP00000294696:R14K	D|R	-|-	1|2	0|0	HFM1|HFM1	91562902|91562902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.455000|2.455000	0.44988|0.44988	2.555000|2.555000	0.86185|0.86185	0.557000|0.557000	0.71058|0.71058	GAT|AGA	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91790314	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91790314	C	T	91790314	3	4	100	1	0	0	0	0	1	0	0	0	7103	913	32	1	2038	1	HFM1	1	91790314	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	2172299	91790314	157460307	6	14447										
HIAT1	64645	genome.wustl.edu	37	chr1	100534090	100534090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctgcattacagtgtttctctCctacctaccggaggcaggcc	9	14	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:100534090C>A	ENST00000370152.3	+	7	903	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	256					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GTGTTTCTCTCCTACCTACCG	0.398																																																	0													157	152	154					1																	100534090		2203	4300	6503	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.767C>A	1.37:g.100534090C>A	ENSP00000359171:p.Ser256Tyr		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.S256Y	ENST00000370152.3	37	c.767	CCDS763.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242131	0.58995	.	.	ENSG00000156875	ENST00000370152	T	0.55930	0.49	5.93	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.78223	2.4	0.80722	D	1	D	0.60575	0.988	D	0.65323	0.934	T	0.64032	-0.6502	10	0.07990	T	0.79	-35.0031	17.1333	0.86732	0.0:0.8734:0.1266:0.0	.	256	Q96MC6	HIAT1_HUMAN	Y	256	ENSP00000359171:S256Y	ENSP00000359171:S256Y	S	+	2	0	HIAT1	100306678	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	7.818000	0.86416	1.500000	0.48636	-0.175000	0.13238	TCC	HIAT1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	C	NM_033055		100534090	1	no_errors	ENST00000370152	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100534090	C	A	100534090	3	1	100	1	0	0	0	0	1	0	0	0	7117	855	30	3	793	3	HIAT1	1	100534090	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8743776	100534090	148716531	7	14448										
VCAM1	7412	genome.wustl.edu	37	chr1	101186190	101186190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atgggaaggtgacgaatgagGggaccacatctacgctgaca	14	8	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:101186190G>T	ENST00000294728.2	+	2	324	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	VCAM1_ENST00000370115.1_Missense_Mutation_p.G75W|VCAM1_ENST00000347652.2_Missense_Mutation_p.G75W|VCAM1_ENST00000370119.4_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	75	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GACGAATGAGGGGACCACATC	0.463																																																	0													105	90	95					1																	101186190		2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.223G>T	1.37:g.101186190G>T	ENSP00000294728:p.Gly75Trp		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.G75W	ENST00000294728.2	37	c.223	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450843	0.63290	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.69306	-0.39;-0.39;-0.39	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.597033	0.19255	N	0.118827	T	0.81138	0.4760	M	0.89214	3.015	0.44000	D	0.996705	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83441	0.0043	9	.	.	.	-21.6311	12.5406	0.56167	0.0782:0.0:0.9218:0.0	.	75;75	P19320-2;P19320	.;VCAM1_HUMAN	W	75	ENSP00000304611:G75W;ENSP00000294728:G75W;ENSP00000359133:G75W	.	G	+	1	0	VCAM1	100958778	0.965000	0.33210	0.986000	0.45419	0.673000	0.39480	2.778000	0.47726	2.745000	0.94114	0.655000	0.94253	GGG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.463	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	G	NM_001078		101186190	1	no_errors	ENST00000294728	ensembl	human	known	70_37	missense	SNP	0.977	T	T	101186190	G	T	101186190	3	4	100	1	0	0	0	0	1	0	0	0	17168	1232	43	4	229	4	VCAM1	1	101186190	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	652100	101186190	148064431	8	14449										
CD101	9398	genome.wustl.edu	37	chr1	117544453	117544453	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggcccaaatggcaggcatctCatatgtggcatctttctttc	9	11	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:117544453C>G	ENST00000256652.4	+	1	72	c.14C>G	c.(13-15)tCa>tGa	p.S5*	CD101_ENST00000369470.1_Nonsense_Mutation_p.S5*	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	5					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGGCATCTCATATGTGGCA	0.438																																																	0													293	239	257					1																	117544453		2203	4300	6503	SO:0001587	stop_gained	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.14C>G	1.37:g.117544453C>G	ENSP00000256652:p.Ser5*		Q15856	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S5*	ENST00000256652.4	37	c.14	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.396874	0.96009	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	.	.	.	5.31	-0.264	0.12950	.	2.711490	0.01136	N	0.006089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	21.2583	3.8708	0.09036	0.1638:0.4445:0.0:0.3917	.	.	.	.	X	5	.	ENSP00000256652:S5X	S	+	2	0	CD101	117345976	0.000000	0.05858	0.000000	0.03702	0.599000	0.36880	-0.043000	0.12043	-0.208000	0.10171	0.555000	0.69702	TCA	CD101	-	NULL		0.438	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	C	NM_004258		117544453	1	no_errors	ENST00000256652	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	117544453	C	G	117544453	4	3	100	1	0	0	0	0	0	1	0	0	2967	838	29	1	16	1	CD101	1	117544453	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	16358263	117544453	131706168	9	14450										
SETDB1	9869	genome.wustl.edu	37	chr1	150936781	150936781	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	actacgaggtgggcagtgtgGaaggcaaggagctactctgt	16	7	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150936781G>C	ENST00000271640.5	+	22	4007	c.3817G>C	c.(3817-3819)Gaa>Caa	p.E1273Q	CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1272Q|CERS2_ENST00000561294.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1273					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGCAGTGTGGAAGGCAAGGA	0.512																																																	0													180	137	152					1																	150936781		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3817G>C	1.37:g.150936781G>C	ENSP00000271640:p.Glu1273Gln		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E1273Q	ENST00000271640.5	37	c.3817	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541107	0.45280	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.88509	-2.39;-2.38	4.81	4.81	0.61882	.	0.102782	0.64402	D	0.000004	T	0.79094	0.4388	L	0.28556	0.865	0.80722	D	1	P;B	0.36378	0.55;0.141	B;B	0.37601	0.254;0.047	T	0.80195	-0.1483	10	0.35671	T	0.21	.	17.6713	0.88218	0.0:0.0:1.0:0.0	.	1272;1273	Q15047-3;Q15047	.;SETB1_HUMAN	Q	1273;1272	ENSP00000271640:E1273Q;ENSP00000357965:E1272Q	ENSP00000271640:E1273Q	E	+	1	0	SETDB1	149203405	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.209000	0.72171	2.493000	0.84123	0.462000	0.41574	GAA	SETDB1	-	NULL		0.512	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150936781	1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150936781	G	C	150936781	3	2	100	1	0	0	0	0	1	0	0	0	14168	1175	41	1	3899	1	SETDB1	1	150936781	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	33392328	150936781	98313840	10	14451										
LASS2	29956	genome.wustl.edu	37	chr1	150939634	150939634	+	Silent	SNP	G	G	A													0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcaaaccaggaaaagctgatGagaatgatggtggccacatg							TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150939634G>A	ENST00000271688.6	-	8	1043	c.657C>T	c.(655-657)ctC>ctT	p.L219L	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000368954.5_Silent_p.L219L|CERS2_ENST00000561294.1_Silent_p.L210L	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	219	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AAAAGCTGATGAGAATGATGG	0.498																																																	0													104	99	100					1																	150939634		2203	4300	6503	SO:0001819	synonymous_variant	29956			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.657C>T	1.37:g.150939634G>A			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.L219	ENST00000271688.6	37	c.657	CCDS973.1	1																																																																																			CERS2	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.498	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	G	NM_022075		150939634	-1	no_errors	ENST00000271688	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150939634	G	A	150939634	2	1	100	1	0	0	0	0	0	0	0	1	8659	1277	45	1		1	LASS2	1	150939634	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	2853	150939634	98310987	11	14452	79	2								
LASS2	29956	genome.wustl.edu	37	chr1	150939640	150939640	+	Silent	SNP	G	G	A													0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	caggaaaagctgatgagaatGatggtggccacatggtggat							TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150939640G>A	ENST00000271688.6	-	8	1037	c.651C>T	c.(649-651)atC>atT	p.I217I	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000368954.5_Silent_p.I217I|CERS2_ENST00000561294.1_Silent_p.I208I	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	217	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGATGAGAATGATGGTGGCCA	0.498																																																	0													103	98	100					1																	150939640		2203	4300	6503	SO:0001819	synonymous_variant	29956			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.651C>T	1.37:g.150939640G>A			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.I217	ENST00000271688.6	37	c.651	CCDS973.1	1																																																																																			CERS2	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.498	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	G	NM_022075		150939640	-1	no_errors	ENST00000271688	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150939640	G	A	150939640	2	1	100	1	0	0	0	0	0	0	0	1	8659	1280	45	1		1	LASS2	1	150939640	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	6	150939640	98310981	12	14453	79	2								
ARHGEF11	9826	genome.wustl.edu	37	chr1	156916522	156916522	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tagctctagggctattgactGataggaacagaactgtgcag	12	7	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:156916522G>C	ENST00000361409.2	-	27	3248	c.2506C>G	c.(2506-2508)Cag>Gag	p.Q836E	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.Q876E|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.Q252E|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	836	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTATTGACTGATAGGAACAG	0.552																																																	0													177	186	183					1																	156916522		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2506C>G	1.37:g.156916522G>C	ENSP00000354644:p.Gln836Glu		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.Q876E	ENST00000361409.2	37	c.2626	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.237304	0.95240	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69435	-0.4;-0.4;-0.4	5.54	5.54	0.83059	Dbl homology (DH) domain (5);	0.000000	0.56097	D	0.000037	T	0.79329	0.4427	M	0.72576	2.205	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.997	D;D;D	0.77004	0.989;0.923;0.957	T	0.79636	-0.1721	10	0.72032	D	0.01	-23.0386	19.2713	0.94011	0.0:0.0:1.0:0.0	.	252;836;876	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	E	876;836;252	ENSP00000357177:Q876E;ENSP00000354644:Q836E;ENSP00000313470:Q252E	ENSP00000313470:Q252E	Q	-	1	0	ARHGEF11	155183146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.890000	0.99128	0.650000	0.86243	CAG	ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156916522	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156916522	G	C	156916522	3	2	100	1	0	0	0	0	1	0	0	0	896	1299	45	1	2118	1	ARHGEF11	1	156916522	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	5976882	156916522	92334099	13	14454										
FMO1	2326	genome.wustl.edu	37	chr1	171244628	171244628	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tttcttactaatccttatttGccactggattcctttccagg	5	11	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:171244628G>C	ENST00000354841.4	+	3	596	c.465G>C	c.(463-465)ttG>ttC	p.L155F	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.L155F|FMO1_ENST00000402921.2_Missense_Mutation_p.L92F	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	155					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATCCTTATTTGCCACTGGATT	0.443																																																	0													163	151	156					1																	171244628		2203	4300	6503	SO:0001583	missense	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.465G>C	1.37:g.171244628G>C	ENSP00000346901:p.Leu155Phe		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.L155F	ENST00000354841.4	37	c.465	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702040	0.30232	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.36	2.5	0.30297	.	0.174801	0.34133	N	0.004226	T	0.55417	0.1919	M	0.67569	2.06	0.45554	D	0.998506	D;B;D	0.76494	0.999;0.267;0.996	D;B;D	0.68765	0.96;0.151;0.928	T	0.56086	-0.8037	10	0.44086	T	0.13	-6.2331	5.1461	0.14985	0.2323:0.0:0.6237:0.144	.	92;155;155	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	F	155;155;92;155	ENSP00000356724:L155F;ENSP00000406982:L155F;ENSP00000385543:L92F;ENSP00000346901:L155F	ENSP00000346901:L155F	L	+	3	2	FMO1	169511252	1.000000	0.71417	0.879000	0.34478	0.387000	0.30353	0.638000	0.24674	0.342000	0.23796	-0.259000	0.10710	TTG	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.443	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	G	NM_002021		171244628	1	no_errors	ENST00000354841	ensembl	human	known	70_37	missense	SNP	1.000	C	C	171244628	G	C	171244628	3	2	100	1	0	0	0	0	1	0	0	0	5972	1310	46	4	475	4	FMO1	1	171244628	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	14328106	171244628	78005993	14	14455										
NCF2	4688	genome.wustl.edu	37	chr1	183536381	183536381	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcccagttatcattgcccttCttcaagacaaagacaatgtt	6	11	3	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:183536381C>T	ENST00000367535.3	-	8	1064	c.813G>A	c.(811-813)aaG>aaA	p.K271K	NCF2_ENST00000367536.1_Silent_p.K271K|NCF2_ENST00000418089.1_Silent_p.K190K|NCF2_ENST00000413720.1_Silent_p.K226K	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	271	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CATTGCCCTTCTTCAAGACAA	0.547																																																	0													300	269	280					1																	183536381		2203	4300	6503	SO:0001819	synonymous_variant	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.813G>A	1.37:g.183536381C>T			B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.K271	ENST00000367535.3	37	c.813	CCDS1356.1	1																																																																																			NCF2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.547	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	C	NM_000433		183536381	-1	no_errors	ENST00000367535	ensembl	human	known	70_37	silent	SNP	1.000	T	T	183536381	C	T	183536381	2	4	100	1	0	0	0	0	0	0	0	1	10241	912	32	1		1	NCF2	1	183536381	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	12291753	183536381	65714240	15	14456										
PIGR	5284	genome.wustl.edu	37	chr1	207110701	207110701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tttggccacgtttgccacctCagggcccagggcacagtgga	13	13	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:207110701C>T	ENST00000356495.4	-	4	967	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	262	Ig-like V-type 3.			E -> Q (in Ref. 6; AA sequence and 7; AA sequence). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTTGCCACCTCAGGGCCCAGG	0.572																																																	0													64	64	64					1																	207110701		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.784G>A	1.37:g.207110701C>T	ENSP00000348888:p.Glu262Lys		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E262K	ENST00000356495.4	37	c.784	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075551	0.55646	.	.	ENSG00000162896	ENST00000356495	T	0.65178	-0.14	5.79	0.163	0.14986	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.066680	0.07167	N	0.851724	T	0.47893	0.1470	L	0.37850	1.14	0.09310	N	1	P	0.34562	0.457	B	0.35182	0.197	T	0.38972	-0.9636	10	0.33141	T	0.24	-21.1965	4.0456	0.09771	0.0:0.4364:0.1728:0.3908	.	262	P01833	PIGR_HUMAN	K	262	ENSP00000348888:E262K	ENSP00000348888:E262K	E	-	1	0	PIGR	205177324	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.568000	0.05909	0.376000	0.24707	0.655000	0.94253	GAG	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr		0.572	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	C	NM_002644		207110701	-1	no_errors	ENST00000356495	ensembl	human	known	70_37	missense	SNP	0.000	T	T	207110701	C	T	207110701	3	4	100	1	0	0	0	0	1	0	0	0	11921	835	29	1	1542	1	PIGR	1	207110701	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	23574320	207110701	42139920	16	14457										
HEATR1	55127	genome.wustl.edu	37	chr1	236724550	236724550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttcaaggccttttaaaatctCaggaccaccactctcaacta	4	13	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:236724550C>T	ENST00000366582.3	-	33	4735	c.4621G>A	c.(4621-4623)Gag>Aag	p.E1541K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1460K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1541					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTAAAATCTCAGGACCACCA	0.333																																																	0													110	108	109					1																	236724550		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4621G>A	1.37:g.236724550C>T	ENSP00000355541:p.Glu1541Lys		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E1541K	ENST00000366582.3	37	c.4621	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734827	0.30774	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.28895	1.59;1.59	5.24	-0.56	0.11789	Armadillo-like helical (1);Armadillo-type fold (1);	0.958713	0.08790	N	0.893352	T	0.22126	0.0533	L	0.31065	0.9	0.46356	D	0.999004	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.08576	-1.0715	10	0.40728	T	0.16	.	10.1577	0.42833	0.0:0.521:0.2382:0.2408	.	1460;1541	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	K	1541;1460	ENSP00000355541:E1541K;ENSP00000355540:E1460K	ENSP00000355540:E1460K	E	-	1	0	HEATR1	234791173	0.931000	0.31567	0.981000	0.43875	0.963000	0.63663	0.200000	0.17257	0.092000	0.17331	-0.165000	0.13383	GAG	HEATR1	-	superfamily_ARM-type_fold		0.333	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236724550	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.644	T	T	236724550	C	T	236724550	3	4	100	1	0	0	0	0	1	0	0	0	7047	835	29	1	1865	1	HEATR1	1	236724550	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	29613849	236724550	12526071	17	14458										
GREB1	9687	genome.wustl.edu	37	chr2	11778841	11778841	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aggccccactctttaaacatCagctgctcggacttgctgtt	8	13	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:11778841C>G	ENST00000381486.2	+	32	5892	c.5592C>G	c.(5590-5592)atC>atG	p.I1864M	GREB1_ENST00000234142.5_Missense_Mutation_p.I1864M|GREB1_ENST00000396123.1_Missense_Mutation_p.I862M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1864						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTAAACATCAGCTGCTCGG	0.433																																					Ovarian(39;850 945 2785 23371 33093)												0													124	116	118					2																	11778841		1909	4115	6024	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5592C>G	2.37:g.11778841C>G	ENSP00000370896:p.Ile1864Met		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.I1864M	ENST00000381486.2	37	c.5592	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991201	0.54041	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.25085	3.14;3.14;1.82	5.24	5.24	0.73138	.	0.108250	0.64402	D	0.000009	T	0.27900	0.0687	L	0.54323	1.7	0.44012	D	0.99672	P	0.35174	0.488	B	0.39503	0.301	T	0.06215	-1.0839	10	0.59425	D	0.04	-14.3161	9.5499	0.39304	0.0:0.8441:0.0:0.1559	.	1864	Q4ZG55	GREB1_HUMAN	M	1864;1864;862	ENSP00000370896:I1864M;ENSP00000234142:I1864M;ENSP00000379429:I862M	ENSP00000234142:I1864M	I	+	3	3	GREB1	11696292	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	1.685000	0.37659	2.428000	0.82296	0.650000	0.86243	ATC	GREB1	-	NULL		0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	C	NM_014668		11778841	1	no_errors	ENST00000234142	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11778841	C	G	11778841	3	3	100	1	0	0	0	0	1	0	0	0	6780	816	29	1	5822	1	GREB1	2	11778841	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		11778841	231420532	18	14459										
GEN1	348654	genome.wustl.edu	37	chr2	17962884	17962884	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttgccttgacagacattcctCtgatgaacaaagtgccccag	8	12	1	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:17962884C>G	ENST00000381254.2	+	14	2619	c.2405C>G	c.(2404-2406)tCt>tGt	p.S802C	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.S802C	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	802					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGACATTCCTCTGATGAACAA	0.373								Homologous recombination																																									0													83	84	84					2																	17962884		2203	4300	6503	SO:0001583	missense	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2405C>G	2.37:g.17962884C>G	ENSP00000370653:p.Ser802Cys		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.S802C	ENST00000381254.2	37	c.2405	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201427	0.79015	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.45668	0.89;0.89	5.32	5.32	0.75619	.	0.273612	0.26258	N	0.025411	T	0.62636	0.2444	M	0.69823	2.125	0.39058	D	0.960477	D	0.71674	0.998	D	0.62955	0.909	T	0.67791	-0.5579	10	0.87932	D	0	-14.2673	17.1785	0.86848	0.0:1.0:0.0:0.0	.	802	Q17RS7	GEN_HUMAN	C	802;802;439	ENSP00000318977:S802C;ENSP00000370653:S802C	ENSP00000318977:S802C	S	+	2	0	GEN1	17826365	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.743000	0.38258	2.678000	0.91216	0.655000	0.94253	TCT	GEN1	-	NULL		0.373	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	C	NM_182625		17962884	1	no_errors	ENST00000317402	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17962884	C	G	17962884	3	3	100	1	0	0	0	0	1	0	0	0	6354	913	32	1	2455	1	GEN1	2	17962884	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	6184043	17962884	225236489	19	14460										
CIB4	130106	genome.wustl.edu	37	chr2	26804232	26804232	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcaggtgtttgccgctacatCagcatccccagaagtgaatc	9	12	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:26804232C>T	ENST00000288861.4	-	7	610	c.557G>A	c.(556-558)tGa>tAa	p.*186*	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	0							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCTACATCAGCATCCCCA	0.562																																																	0													74	64	68					2																	26804232		2203	4300	6503	SO:0001819	synonymous_variant	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.557G>A	2.37:g.26804232C>T			B2RU18	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.*186	ENST00000288861.4	37	c.557	CCDS33160.1	2																																																																																			CIB4	-	NULL		0.562	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	C			26804232	-1	no_errors	ENST00000288861	ensembl	human	known	70_37	silent	SNP	0.684	T	T	26804232	C	T	26804232	2	4	100	1	0	0	0	0	0	0	0	1	3428	837	29	1		1	CIB4	2	26804232	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8841348	26804232	216395141	20	14461										
CAD	790	genome.wustl.edu	37	chr2	27447715	27447715	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tggccgacaaggtctattttCttcccataacacctcattat	5	12	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:27447715C>G	ENST00000403525.1	+	10	1501	c.1357C>G	c.(1357-1359)Ctt>Gtt	p.L453V	CAD_ENST00000264705.4_Missense_Mutation_p.L453V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTATTTTCTTCCCATAAC	0.517																																																	0													142	150	148					2																	27447715		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1357C>G	2.37:g.27447715C>G	ENSP00000384510:p.Leu453Val		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L453V	ENST00000403525.1	37	c.1357		2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499870	0.64298	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95171	-3.63;-3.63	5.71	3.58	0.41010	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.87827	2.91	0.58432	D	0.999991	D;D	0.89917	0.964;1.0	P;D	0.87578	0.854;0.998	D	0.96809	0.9595	10	0.48119	T	0.1	-0.1251	12.2459	0.54571	0.0:0.8333:0.0:0.1667	.	453;453	F8VPD4;P27708	.;PYR1_HUMAN	V	453	ENSP00000264705:L453V;ENSP00000384510:L453V	ENSP00000264705:L453V	L	+	1	0	CAD	27301219	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.540000	0.60664	1.410000	0.46936	0.462000	0.41574	CTT	CAD	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu		0.517	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27447715	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27447715	C	G	27447715	3	3	100	1	0	0	0	0	1	0	0	0	2570	913	32	1	1395	1	CAD	2	27447715	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	643483	27447715	215751658	21	14462										
TRIM54	57159	genome.wustl.edu	37	chr2	27522162	27522162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcatgtgcgaggagcatgaaGaagagaagatcaatatttac	11	5	2	4	rs377107158		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:27522162G>C	ENST00000380075.2	+	3	731	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	TRIM54_ENST00000296098.4_Missense_Mutation_p.E131Q	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	131					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCATGAAGAAGAGAAGAT	0.582																																																	0													84	76	79					2																	27522162		2203	4300	6503	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.391G>C	2.37:g.27522162G>C	ENSP00000369415:p.Glu131Gln		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E131Q	ENST00000380075.2	37	c.391	CCDS1746.2	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426624	0.83667	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.44482	0.92;0.92	5.71	5.71	0.89125	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.493042	0.21729	N	0.069996	T	0.45915	0.1366	L	0.58101	1.795	0.50171	D	0.999851	B;P	0.40602	0.293;0.723	B;B	0.42593	0.392;0.361	T	0.25984	-1.0116	10	0.26408	T	0.33	-3.904	17.3586	0.87344	0.0:0.0:1.0:0.0	.	131;131	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	Q	131	ENSP00000369415:E131Q;ENSP00000296098:E131Q	ENSP00000296098:E131Q	E	+	1	0	TRIM54	27375666	1.000000	0.71417	0.860000	0.33809	0.635000	0.38103	9.735000	0.98825	2.684000	0.91462	0.561000	0.74099	GAA	TRIM54	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box		0.582	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	G	NM_187841		27522162	1	no_errors	ENST00000296098	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27522162	G	C	27522162	3	2	100	1	0	0	0	0	1	0	0	0	16559	943	33	1	401	1	TRIM54	2	27522162	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	74447	27522162	215677211	22	14463										
GCKR	2646	genome.wustl.edu	37	chr2	27726397	27726397	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcagaaatgaccccattgaaGactggagttcaacattccga	8	10	2	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:27726397G>C	ENST00000264717.2	+	9	724	c.661G>C	c.(661-663)Gac>Cac	p.D221H	GCKR_ENST00000424318.2_Missense_Mutation_p.D31H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	221	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCCCATTGAAGACTGGAGTTC	0.498																																																	0													89	73	78					2																	27726397		2203	4300	6503	SO:0001583	missense	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.661G>C	2.37:g.27726397G>C	ENSP00000264717:p.Asp221His		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	NULL	p.D221H	ENST00000264717.2	37	c.661	CCDS1757.1	2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302652	0.60195	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.46063	0.88;0.88	4.33	4.33	0.51752	Sugar isomerase (SIS) (1);	0.212203	0.39687	N	0.001283	T	0.51075	0.1653	L	0.34521	1.04	0.35345	D	0.786865	D;D;D	0.76494	0.999;0.989;0.995	D;P;P	0.67382	0.951;0.834;0.871	T	0.62416	-0.6859	10	0.52906	T	0.07	-3.6563	14.3628	0.66785	0.0:0.0:1.0:0.0	.	31;221;221	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	H	221;31	ENSP00000264717:D221H;ENSP00000409109:D31H	ENSP00000264717:D221H	D	+	1	0	GCKR	27579901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.916000	0.56416	2.223000	0.72356	0.462000	0.41574	GAC	GCKR	-	NULL		0.498	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	G	NM_001486		27726397	1	no_errors	ENST00000264717	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27726397	G	C	27726397	3	2	100	1	0	0	0	0	1	0	0	0	6313	942	33	1	695	1	GCKR	2	27726397	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	204235	27726397	215472976	23	14464										
FAM98A	25940	genome.wustl.edu	37	chr2	33820590	33820590	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	acgttttcctctagtttacaGagcactcttaattcagacac	5	11	3	2	rs370123548		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:33820590G>A	ENST00000238823.8	-	2	308	c.168C>T	c.(166-168)ctC>ctT	p.L56L	FAM98A_ENST00000403368.1_Silent_p.L56L|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	56							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTAGTTTACAGAGCACTCTTA	0.423																																																	0													115	114	114					2																	33820590		2203	4300	6503	SO:0001819	synonymous_variant	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.168C>T	2.37:g.33820590G>A			B2RNA2|Q9Y3Y6	Silent	SNP	pfam_Uncharacterised_FAM98	p.L56	ENST00000238823.8	37	c.168	CCDS33179.1	2																																																																																			FAM98A	-	pfam_Uncharacterised_FAM98		0.423	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	G	NM_015475		33820590	-1	no_errors	ENST00000238823	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33820590	G	A	33820590	2	1	100	1	0	0	0	0	0	0	0	1	5674	929	33	1		1	FAM98A	2	33820590	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	6094193	33820590	209378783	24	14465										
REL	5966	genome.wustl.edu	37	chr2	61145397	61145397	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaagtgtcagaggaggagatGaaatatttctactttgtgac	12	4	2	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:61145397G>A	ENST00000295025.8	+	6	927	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	REL_ENST00000394479.3_Missense_Mutation_p.E203K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	203	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGGAGGAGATGAAATATTTCT	0.289			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													56	57	57					2																	61145397		2203	4299	6502	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.607G>A	2.37:g.61145397G>A	ENSP00000295025:p.Glu203Lys		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E203K	ENST00000295025.8	37	c.607	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.386809	0.95967	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	D;D	0.91521	-2.86;-2.86	5.41	5.41	0.78517	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96758	0.9559	10	0.87932	D	0	0.0313	19.1997	0.93707	0.0:0.0:1.0:0.0	.	203;203	Q17RU2;Q04864	.;REL_HUMAN	K	203	ENSP00000295025:E203K;ENSP00000377989:E203K	ENSP00000295025:E203K	E	+	1	0	REL	60998901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.520000	0.84964	0.650000	0.86243	GAA	REL	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor		0.289	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	G	NM_002908		61145397	1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61145397	G	A	61145397	3	1	100	1	0	0	0	0	1	0	0	0	13245	1291	45	1	629	1	REL	2	61145397	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	27324807	61145397	182053976	25	14466										
USP34	9736	genome.wustl.edu	37	chr2	61575399	61575399	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	actgcttttgggaggattatGaccatgatcatcgtcttcat	9	8	3	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:61575399G>C	ENST00000398571.2	-	15	1967	c.1891C>G	c.(1891-1893)Cat>Gat	p.H631D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	631					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGAGGATTATGACCATGATCA	0.493																																																	0													74	73	73					2																	61575399		2006	4178	6184	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1891C>G	2.37:g.61575399G>C	ENSP00000381577:p.His631Asp		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.H631D	ENST00000398571.2	37	c.1891	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941531	0.34283	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.47869	0.83	6.07	6.07	0.98685	.	0.339837	0.34110	N	0.004251	T	0.30572	0.0769	N	0.14661	0.345	0.37362	D	0.911265	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.11794	T	0.64	.	15.3713	0.74568	0.0:0.0:0.8606:0.1394	.	631	Q70CQ2	UBP34_HUMAN	D	479;479;631	ENSP00000381577:H631D	ENSP00000263989:H479D	H	-	1	0	USP34	61428903	0.983000	0.35010	0.968000	0.41197	0.586000	0.36452	3.122000	0.50446	2.890000	0.99128	0.650000	0.86243	CAT	USP34	-	NULL		0.493	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	G			61575399	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	0.998	C	C	61575399	G	C	61575399	3	2	100	1	0	0	0	0	1	0	0	0	17096	1290	45	1	9013	1	USP34	2	61575399	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	430002	61575399	181623974	26	14467										
PCYOX1	51449	genome.wustl.edu	37	chr2	70504018	70504018	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctccaattgaggaattccatCaatattatcaacatatagtg	5	8	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:70504018C>T	ENST00000433351.2	+	6	1040	c.1012C>T	c.(1012-1014)Caa>Taa	p.Q338*	PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.Q260*|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.Q261*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	338					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGAATTCCATCAATATTATCA	0.348																																																	0													55	58	57					2																	70504018		2203	4300	6503	SO:0001587	stop_gained	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1012C>T	2.37:g.70504018C>T	ENSP00000387654:p.Gln338*		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.Q338*	ENST00000433351.2	37	c.1012	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665372	0.88251	.	.	ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138	.	.	.	5.65	3.79	0.43588	.	0.385280	0.29152	N	0.012990	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-1.752	8.4626	0.32936	0.2498:0.4676:0.2827:0.0	.	.	.	.	X	261;338;260	.	ENSP00000387654:Q338X	Q	+	1	0	PCYOX1	70357522	0.819000	0.29175	0.832000	0.32986	0.794000	0.44872	1.983000	0.40648	0.874000	0.35823	0.655000	0.94253	CAA	PCYOX1	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.348	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	C	NM_016297		70504018	1	no_errors	ENST00000433351	ensembl	human	known	70_37	nonsense	SNP	0.859	T	T	70504018	C	T	70504018	4	4	100	1	0	0	0	0	0	1	0	0	11632	827	29	1	1034	1	PCYOX1	2	70504018	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8928619	70504018	172695355	27	14468										
POLR1A	25885	genome.wustl.edu	37	chr2	86267661	86267661	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cacagtgagcgctgccacttCagctgcagcaaggtcctcaa	10	14	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:86267661C>T	ENST00000263857.6	-	25	3972	c.3594G>A	c.(3592-3594)ctG>ctA	p.L1198L	POLR1A_ENST00000409681.1_Silent_p.L1198L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1198					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.L1198L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCTGCCACTTCAGCTGCAGCA	0.647																																																	1	Substitution - coding silent(1)	lung(1)											33	39	38					2																	86267661		1948	4139	6087	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3594G>A	2.37:g.86267661C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.L1198	ENST00000263857.6	37	c.3594	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.647	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86267661	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	0.193	T	T	86267661	C	T	86267661	2	4	100	1	0	0	0	0	0	0	0	1	12233	813	29	1		1	POLR1A	2	86267661	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	15763643	86267661	156931712	28	14469										
POLR1A	25885	genome.wustl.edu	37	chr2	86276325	86276325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcttcaatgatacgttgcctCttgacatctgcctttggctt	7	11	4	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:86276325C>G	ENST00000263857.6	-	17	2811	c.2433G>C	c.(2431-2433)aaG>aaC	p.K811N	POLR1A_ENST00000409681.1_Missense_Mutation_p.K811N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	811					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TACGTTGCCTCTTGACATCTG	0.552																																																	0													144	148	147					2																	86276325		1998	4162	6160	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2433G>C	2.37:g.86276325C>G	ENSP00000263857:p.Lys811Asn		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.K811N	ENST00000263857.6	37	c.2433	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045461	0.36085	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68624	-0.34;-0.34	5.18	5.18	0.71444	.	0.736221	0.14063	N	0.343921	T	0.62490	0.2432	L	0.55481	1.735	0.48135	D	0.999591	B	0.22983	0.078	B	0.25759	0.063	T	0.56050	-0.8043	10	0.28530	T	0.3	-6.703	12.9027	0.58135	0.0:0.9148:0.0:0.0852	.	811	O95602	RPA1_HUMAN	N	811	ENSP00000263857:K811N;ENSP00000386300:K811N	ENSP00000263857:K811N	K	-	3	2	POLR1A	86129836	0.980000	0.34600	0.862000	0.33874	0.029000	0.11900	2.464000	0.45067	2.595000	0.87683	0.655000	0.94253	AAG	POLR1A	-	NULL		0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86276325	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.996	G	G	86276325	C	G	86276325	3	3	100	1	0	0	0	0	1	0	0	0	12233	912	32	1	2801	1	POLR1A	2	86276325	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8664	86276325	156923048	29	14470										
LONRF2	164832	genome.wustl.edu	37	chr2	100906845	100906845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tccatcaggaaacgttctcaCgtccttaatctccagcatgc	6	14	3	0	rs143848902		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:100906845C>T	ENST00000393437.3	-	10	2434	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M	LONRF2_ENST00000409647.1_Missense_Mutation_p.V356M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	599	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AACGTTCTCACGTCCTTAATC	0.473																																																	0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	137	123	128		1795	-1.7	0	2	dbSNP_134	128	0,8600		0,0,4300	no	missense	LONRF2	NM_198461.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	599/755	100906845	1,13005	2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1795G>A	2.37:g.100906845C>T	ENSP00000377086:p.Val599Met		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.V599M	ENST00000393437.3	37	c.1795	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982633	0.34942	2.27E-4	0.0	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.48522	0.81;0.81	4.89	-1.69	0.08186	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.377538	0.26210	N	0.025698	T	0.58308	0.2113	M	0.77712	2.385	0.26961	N	0.96581	D	0.89917	1.0	D	0.85130	0.997	T	0.53092	-0.8487	10	0.59425	D	0.04	-0.9745	2.2956	0.04149	0.1258:0.4473:0.2248:0.202	.	599	Q1L5Z9	LONF2_HUMAN	M	599;356	ENSP00000377086:V599M;ENSP00000386823:V356M	ENSP00000377086:V599M	V	-	1	0	LONRF2	100273277	0.553000	0.26513	0.000000	0.03702	0.024000	0.10985	1.393000	0.34497	-0.810000	0.04375	-0.136000	0.14681	GTG	LONRF2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.473	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	C	NM_198461		100906845	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	0.178	T	T	100906845	C	T	100906845	3	4	100	1	0	0	0	0	1	0	0	0	8918	536	19	2	481	2	LONRF2	2	100906845	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	14630520	100906845	142292528	30	14471										
TANK	10010	genome.wustl.edu	37	chr2	162061215	162061215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atggctgtgttcctctgcttGaagacagtgaaacaagaaag	11	7	1	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:162061215G>C	ENST00000392749.2	+	4	477	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	TANK_ENST00000405852.1_Missense_Mutation_p.E80Q|TANK_ENST00000259075.2_Missense_Mutation_p.E80Q|TANK_ENST00000403609.1_Missense_Mutation_p.E80Q|TANK_ENST00000402568.1_Missense_Mutation_p.E139Q|TANK_ENST00000457476.1_Missense_Mutation_p.E80Q|TANK_ENST00000406287.1_Missense_Mutation_p.E138Q	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	80					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCCTCTGCTTGAAGACAGTGA	0.363																																																	0													73	77	76					2																	162061215		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.238G>C	2.37:g.162061215G>C	ENSP00000376505:p.Glu80Gln		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.E80Q	ENST00000392749.2	37	c.238	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389660	0.82902	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T	0.35048	1.77;1.77;1.33	5.41	5.41	0.78517	.	0.361797	0.28952	N	0.013617	T	0.43366	0.1244	L	0.32530	0.975	0.39910	D	0.974018	D;D	0.54964	0.964;0.969	P;P	0.54629	0.71;0.757	T	0.32745	-0.9895	10	0.51188	T	0.08	-11.0438	16.4783	0.84144	0.0:0.0:1.0:0.0	.	80;80	Q92844;Q7Z4J6	TANK_HUMAN;.	Q	80;81;80;80;80;81;138;139;80;106;80	ENSP00000259075:E80Q;ENSP00000376505:E80Q;ENSP00000385487:E80Q	ENSP00000259075:E80Q	E	+	1	0	TANK	161769461	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.601000	0.67606	2.680000	0.91292	0.557000	0.71058	GAA	TANK	-	NULL		0.363	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	G	NM_133484		162061215	1	no_errors	ENST00000259075	ensembl	human	known	70_37	missense	SNP	1.000	C	C	162061215	G	C	162061215	3	2	100	1	0	0	0	0	1	0	0	0	15576	1291	45	1	248	1	TANK	2	162061215	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	61154370	162061215	81138158	31	14472										
GCG	2641	genome.wustl.edu	37	chr2	163005610	163005610	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttaatacctggatttctcctCtgtgtcttgaagggaacgtt	9	8	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:163005610C>T	ENST00000418842.2	-	2	333	c.79G>A	c.(79-81)Gag>Aag	p.E27K	GCG_ENST00000375497.3_Missense_Mutation_p.E27K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	27					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						GATTTCTCCTCTGTGTCTTGA	0.393																																																	0													145	139	141					2																	163005610		1864	4101	5965	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.79G>A	2.37:g.163005610C>T	ENSP00000387662:p.Glu27Lys		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.E27K	ENST00000418842.2	37	c.79	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995948	0.93167	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.51071	0.72;0.72	5.1	5.1	0.69264	.	0.219310	0.46442	D	0.000291	T	0.68760	0.3036	M	0.73598	2.24	0.54753	D	0.999987	D	0.71674	0.998	D	0.65874	0.939	T	0.72561	-0.4256	10	0.87932	D	0	-0.2274	18.7028	0.91627	0.0:1.0:0.0:0.0	.	27	P01275	GLUC_HUMAN	K	27	ENSP00000387662:E27K;ENSP00000364647:E27K	ENSP00000364647:E27K	E	-	1	0	GCG	162713856	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.343000	0.72986	2.663000	0.90544	0.591000	0.81541	GAG	GCG	-	NULL		0.393	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	C	NM_002054		163005610	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	T	T	163005610	C	T	163005610	3	4	100	1	0	0	0	0	1	0	0	0	6309	922	32	1	483	1	GCG	2	163005610	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	944395	163005610	80193763	32	14473										
TTN	7273	genome.wustl.edu	37	chr2	179554591	179554591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aacaggaacgggaatcttttCttcagggacaggtttctttg	11	7	4	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:179554591C>T	ENST00000591111.1	-	120	31068	c.30844G>A	c.(30844-30846)Gaa>Aaa	p.E10282K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E10599K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9355K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATCTTTTCTTCAGGGACA	0.393																																																	0													175	169	171					2																	179554591		1831	4080	5911	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30844G>A	2.37:g.179554591C>T	ENSP00000465570:p.Glu10282Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E9355K	ENST00000591111.1	37	c.28063		2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355643	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T;T	0.35605	1.3;1.3	5.39	5.39	0.77823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.29491	0.0735	L	0.31526	0.94	0.80722	D	1	B;B	0.28233	0.01;0.204	B;B	0.24848	0.015;0.056	T	0.09975	-1.0650	9	0.87932	D	0	.	14.7225	0.69317	0.0:0.9283:0.0:0.0717	.	10282;10282	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	K	9355;477;109	ENSP00000343764:E9355K;ENSP00000401501:E477K	ENSP00000343764:E9355K	E	-	1	0	TTN	179262836	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	0.607000	0.24209	2.687000	0.91594	0.561000	0.74099	GAA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179554591	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179554591	C	T	179554591	3	4	100	1	0	0	0	0	1	0	0	0	16766	922	32	1	72698	1	TTN	2	179554591	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	16548981	179554591	63644782	33	14474										
ABCA12	26154	genome.wustl.edu	37	chr2	215890462	215890463	+	Frame_Shift_Ins	INS	-	-	T													0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaaccattgcgaagaaaagaINSttttttaaatcgtattgtgg					rs145481860|rs189141015	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:215890462_215890463insT	ENST00000272895.7	-	11	1440_1441	c.1221_1222insA	c.(1219-1224)aaatctfs	p.S408fs	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000595058.1_RNA|ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.S90fs|AC072062.3_ENST00000419251.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	408					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CGAAGAAAAGATTTTTTAAATC	0.337																																					Ovarian(66;664 1488 5121 34295)												0																																										SO:0001589	frameshift_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1222dupA	2.37:g.215890468_215890468dupT	ENSP00000272895:p.Ser408fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S407fs	ENST00000272895.7	37	c.1222_1221	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.337	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	NM_173076		215890463	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	T	T	215890463	-	T	215890462	7	5	100	1	0	1	1	0	0	0	0	0	30	333	12	0	6737	0	ABCA12	2	215890462	Frame_Shift_Ins	INS	-	TCGA-EK-A2PL-01A-11D-A18J-09	36335871	215890462	27308911	34	14475										
IRS1	3667	genome.wustl.edu	37	chr2	227662668	227662668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cttgctgcgagggcggaactCatcactcatggcccgcatgg	13	13	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:227662668C>T	ENST00000305123.5	-	1	1807	c.787G>A	c.(787-789)Gag>Aag	p.E263K	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	263	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGAACTCATCACTCATG	0.642											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	80	78					2																	227662668		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.787G>A	2.37:g.227662668C>T	ENSP00000304895:p.Glu263Lys	2321		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E263K	ENST00000305123.5	37	c.787	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.083673	0.94050	.	.	ENSG00000169047	ENST00000305123	T	0.68479	-0.33	5.79	5.79	0.91817	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.000000	0.64402	D	0.000001	T	0.76814	0.4040	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.77073	-0.2723	10	0.59425	D	0.04	-11.6738	20.0212	0.97504	0.0:1.0:0.0:0.0	.	263	P35568	IRS1_HUMAN	K	263	ENSP00000304895:E263K	ENSP00000304895:E263K	E	-	1	0	IRS1	227370912	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GAG	IRS1	-	pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	C	NM_005544		227662668	-1	no_errors	ENST00000305123	ensembl	human	known	70_37	missense	SNP	1.000	T	T	227662668	C	T	227662668	3	4	100	1	0	0	0	0	1	0	0	0	7860	835	29	1	2945	1	IRS1	2	227662668	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	11772206	227662668	15536705	35	14476										
IRS1	3667	genome.wustl.edu	37	chr2	227662864	227662864	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	acggccgctgcctccgagttCagcttcacgaagctgatggt	12	13	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:227662864C>T	ENST00000305123.5	-	1	1611	c.591G>A	c.(589-591)ctG>ctA	p.L197L	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	197	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCCGAGTTCAGCTTCACGA	0.572											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58	57	57					2																	227662864		2203	4300	6503	SO:0001819	synonymous_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.591G>A	2.37:g.227662864C>T		2321		Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.L197	ENST00000305123.5	37	c.591	CCDS2463.1	2																																																																																			IRS1	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1		0.572	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	C	NM_005544		227662864	-1	no_errors	ENST00000305123	ensembl	human	known	70_37	silent	SNP	0.992	T	T	227662864	C	T	227662864	2	4	100	1	0	0	0	0	0	0	0	1	7860	813	29	1		1	IRS1	2	227662864	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	196	227662864	15536509	36	14477										
PID1	55022	genome.wustl.edu	37	chr2	229890630	229890630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gccacctggaaggtatccatGtgcactgtggcctccccttt	10	14	0	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:229890630G>T	ENST00000354069.6	-	3	501	c.471C>A	c.(469-471)caC>caA	p.H157Q	PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.H124Q|PID1_ENST00000409462.1_Missense_Mutation_p.H75Q|PID1_ENST00000392054.3_Missense_Mutation_p.H155Q			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	157	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGGTATCCATGTGCACTGTGG	0.582																																																	0													129	122	124					2																	229890630		2203	4300	6503	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.471C>A	2.37:g.229890630G>T	ENSP00000283937:p.His157Gln		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.H157Q	ENST00000354069.6	37	c.471		2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658176	0.47467	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	3.73	0.42828	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.217930	0.50627	D	0.000115	T	0.42698	0.1214	L	0.38175	1.15	0.43550	D	0.99585	P;P;P;P	0.48589	0.654;0.531;0.893;0.912	B;B;B;B	0.42653	0.063;0.063;0.394;0.313	T	0.31052	-0.9957	8	.	.	.	-34.2038	12.2225	0.54441	0.146:0.0:0.854:0.0	.	75;124;155;157	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Q	155;75;124;157;157	.	.	H	-	3	2	PID1	229598874	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.043000	0.49823	1.486000	0.48398	0.655000	0.94253	CAC	PID1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom		0.582	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	G	NM_017933		229890630	-1	no_errors	ENST00000354069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	229890630	G	T	229890630	3	4	100	1	0	0	0	0	1	0	0	0	11906	1368	48	4	285	4	PID1	2	229890630	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	2227766	229890630	13308743	37	14478										
GRM7	2917	genome.wustl.edu	37	chr3	7188329	7188329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tggagagaaaggtgtggagtCcttcacgcagatttccaaag	13	7	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:7188329C>T	ENST00000357716.4	+	2	984	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GRM7_ENST00000403881.1_Missense_Mutation_p.S237F|GRM7_ENST00000389336.4_Missense_Mutation_p.S237F|GRM7_ENST00000486284.1_Missense_Mutation_p.S237F|GRM7_ENST00000402647.2_Missense_Mutation_p.S237F	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	237					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGTGTGGAGTCCTTCACGCAG	0.483																																																	0													77	79	78					3																	7188329		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.710C>T	3.37:g.7188329C>T	ENSP00000350348:p.Ser237Phe		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S237F	ENST00000357716.4	37	c.710	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.099383	0.94197	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.057834	0.64402	D	0.000001	D	0.86648	0.5983	L	0.58510	1.815	0.80722	D	1	P;P;B	0.40794	0.729;0.6;0.263	P;B;P	0.48598	0.576;0.404;0.583	D	0.86835	0.2013	10	0.87932	D	0	.	19.1458	0.93467	0.0:1.0:0.0:0.0	.	237;237;237	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	F	29;237;237;237;237;237;237;237	ENSP00000393799:S29F;ENSP00000350348:S237F;ENSP00000417536:S237F;ENSP00000373987:S237F;ENSP00000385664:S237F;ENSP00000384585:S237F	ENSP00000350348:S237F	S	+	2	0	GRM7	7163329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	TCC	GRM7	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.483	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	C	NM_000844		7188329	1	no_errors	ENST00000402647	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7188329	C	T	7188329	3	4	100	1	0	0	0	0	1	0	0	0	6822	855	30	1	716	1	GRM7	3	7188329	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		7188329	190834101	38	14479										
TGFBR2	7048	genome.wustl.edu	37	chr3	30729968	30729968	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	acgtgttgagagatcgagggCgaccagaaattcccagcttc	12	10	0	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:30729968C>T	ENST00000295754.5	+	6	1871	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.R522*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R497*(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGATCGAGGGCGACCAGAAAT	0.488																																																	3	Substitution - Nonsense(3)	large_intestine(2)|stomach(1)	GRCh37	CM063204	TGFBR2	M							107	101	103					3																	30729968		2203	4300	6503	SO:0001587	stop_gained	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1489C>T	3.37:g.30729968C>T	ENSP00000295754:p.Arg497*		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.R522*	ENST00000295754.5	37	c.1564	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	41	9.125984	0.99073	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3507	0.66699	0.1482:0.8518:0.0:0.0	.	.	.	.	X	497;522;327	.	ENSP00000295754:R497X	R	+	1	2	TGFBR2	30704972	0.993000	0.37304	0.962000	0.40283	0.972000	0.66771	3.116000	0.50399	2.682000	0.91365	0.591000	0.81541	CGA	TGFBR2	-	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,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom		0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	C			30729968	1	no_errors	ENST00000359013	ensembl	human	known	70_37	nonsense	SNP	0.992	T	T	30729968	C	T	30729968	4	4	100	1	0	0	0	0	0	1	0	0	15852	760	27	2	1590	2	TGFBR2	3	30729968	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	23541639	30729968	167292462	39	14480										
NBEAL2	23218	genome.wustl.edu	37	chr3	47039707	47039707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggaccctcagtgacttcgccGtgcgcctcggtaggtgtgag	15	12	1	2	rs557357830		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:47039707G>T	ENST00000450053.3	+	21	3288	c.3109G>T	c.(3109-3111)Gtg>Ttg	p.V1037L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.V1037L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1037					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGACTTCGCCGTGCGCCTCGG	0.602																																																	0													33	38	36					3																	47039707		2004	4166	6170	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3109G>T	3.37:g.47039707G>T	ENSP00000415034:p.Val1037Leu		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1037L	ENST00000450053.3	37	c.3109	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303939	0.81136	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.64085	0.63;-0.08	5.74	5.74	0.90152	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.39397	1.21	0.80722	D	1	D	0.53462	0.96	P	0.45712	0.491	T	0.60806	-0.7190	10	0.42905	T	0.14	.	18.4858	0.90828	0.0:0.0:1.0:0.0	.	1037	Q6ZNJ1	NBEL2_HUMAN	L	1037	ENSP00000292309:V1037L;ENSP00000415034:V1037L	ENSP00000292309:V1037L	V	+	1	0	NBEAL2	47014711	1.000000	0.71417	0.969000	0.41365	0.714000	0.41099	6.598000	0.74122	2.712000	0.92718	0.561000	0.74099	GTG	NBEAL2	-	NULL		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47039707	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47039707	G	T	47039707	3	4	100	1	0	0	0	0	1	0	0	0	10212	1145	40	2	3191	2	NBEAL2	3	47039707	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	16309739	47039707	150982723	40	14481										
EPHA3	2042	genome.wustl.edu	37	chr3	89468499	89468499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aagcattatgggacagtttgAccaccccaatatcattcgac	7	11	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:89468499A>C	ENST00000336596.2	+	11	2258	c.2033A>C	c.(2032-2034)gAc>gCc	p.D678A	EPHA3_ENST00000494014.1_Missense_Mutation_p.D678A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGACAGTTTGACCACCCCAAT	0.418										TSP Lung(6;0.00050)																																							0													117	108	111					3																	89468499		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2033A>C	3.37:g.89468499A>C	ENSP00000337451:p.Asp678Ala		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D678A	ENST00000336596.2	37	c.2033	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785849	0.90282	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.63580	-0.05;-0.05	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.35723	1.085	0.80722	D	1	P	0.37500	0.597	B	0.40677	0.337	T	0.54344	-0.8308	9	.	.	.	.	15.979	0.80091	1.0:0.0:0.0:0.0	.	678	P29320	EPHA3_HUMAN	A	678	ENSP00000337451:D678A;ENSP00000419190:D678A	.	D	+	2	0	EPHA3	89551189	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.182000	0.69389	0.460000	0.39030	GAC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,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,pfscan_Prot_kinase_cat_dom		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	A	NM_005233		89468499	1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89468499	A	C	89468499	3	2	100	1	0	0	0	0	1	0	0	0	5180	275	10	5	2101	5	EPHA3	3	89468499	Missense_Mutation	SNP	A	TCGA-EK-A2PL-01A-11D-A18J-09	42428792	89468499	108553931	41	14482										
DTX3L	151636	genome.wustl.edu	37	chr3	122288386	122288386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gacatccaaatgtacactttGtgctaaatcaagagtcaatg	7	8	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:122288386G>T	ENST00000296161.4	+	3	1639	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	484					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TGTACACTTTGTGCTAAATCA	0.403																																																	0													105	100	102					3																	122288386		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1450G>T	3.37:g.122288386G>T	ENSP00000296161:p.Val484Leu		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.V484L	ENST00000296161.4	37	c.1450	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	8.902	0.956530	0.18507	.	.	ENSG00000163840	ENST00000296161	T	0.30448	1.53	5.25	3.43	0.39272	.	1.371450	0.04843	N	0.440874	T	0.28863	0.0716	M	0.62723	1.935	0.09310	N	0.999999	B	0.26318	0.146	B	0.18871	0.023	T	0.34354	-0.9832	10	0.10377	T	0.69	-14.8007	6.1646	0.20384	0.0847:0.0:0.578:0.3373	.	484	Q8TDB6	DTX3L_HUMAN	L	484	ENSP00000296161:V484L	ENSP00000296161:V484L	V	+	1	0	DTX3L	123771076	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.042000	0.12063	0.778000	0.33520	-0.169000	0.13324	GTG	DTX3L	-	NULL		0.403	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	G	NM_138287		122288386	1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	0.000	T	T	122288386	G	T	122288386	3	4	100	1	0	0	0	0	1	0	0	0	4806	1377	48	4	1460	4	DTX3L	3	122288386	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	32819887	122288386	75734044	42	14483										
CEP63	80254	genome.wustl.edu	37	chr3	134256086	134256086	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaggcacaaaggaaggctctGgctgaacaatcagagataat	12	7	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:134256086G>T	ENST00000337090.3	+	6	704	c.531G>T	c.(529-531)ctG>ctT	p.L177L	CEP63_ENST00000354446.3_Silent_p.L177L|CEP63_ENST00000606977.1_Silent_p.L177L|CEP63_ENST00000332047.5_Silent_p.L177L|CEP63_ENST00000513612.2_Silent_p.L177L|CEP63_ENST00000383229.3_Silent_p.L177L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	177					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAGGCTCTGGCTGAACAAT	0.433																																																	0													94	96	95					3																	134256086		2203	4300	6503	SO:0001819	synonymous_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.531G>T	3.37:g.134256086G>T			D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	NULL	p.L177	ENST00000337090.3	37	c.531	CCDS3086.1	3																																																																																			CEP63	-	NULL		0.433	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	G	NM_025180		134256086	1	no_errors	ENST00000337090	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134256086	G	T	134256086	2	4	100	1	0	0	0	0	0	0	0	1	3262	1335	47	4		4	CEP63	3	134256086	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	11967700	134256086	63766344	43	14484										
SLITRK3	22865	genome.wustl.edu	37	chr3	164906461	164906461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agttggtcgaccaccaccccCacttccgccaccaccacctc	5	22	0	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:164906461C>A	ENST00000475390.1	-	2	2601	c.2158G>T	c.(2158-2160)Ggg>Tgg	p.G720W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G720W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	720	Poly-Gly.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ccaccacccccacttccgcca	0.572										HNSCC(40;0.11)																																							0													84	60	68					3																	164906461		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2158G>T	3.37:g.164906461C>A	ENSP00000420091:p.Gly720Trp		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G720W	ENST00000475390.1	37	c.2158	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293803	0.40594	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53857	0.6;0.6	4.89	4.89	0.63831	.	0.000000	0.33075	U	0.005304	T	0.46870	0.1415	N	0.08118	0	0.25715	N	0.98544	D	0.63046	0.992	P	0.57204	0.815	T	0.45396	-0.9264	10	0.54805	T	0.06	-2.6428	13.7412	0.62849	0.0:1.0:0.0:0.0	.	720	O94933	SLIK3_HUMAN	W	720	ENSP00000420091:G720W;ENSP00000241274:G720W	ENSP00000241274:G720W	G	-	1	0	SLITRK3	166389155	0.911000	0.30947	0.153000	0.22517	0.011000	0.07611	0.878000	0.28126	2.689000	0.91719	0.655000	0.94253	GGG	SLITRK3	-	NULL		0.572	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	C	NM_014926		164906461	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	missense	SNP	0.411	A	A	164906461	C	A	164906461	3	1	100	1	0	0	0	0	1	0	0	0	14774	594	21	4	779	4	SLITRK3	3	164906461	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	30650375	164906461	33115969	44	14485										
CLDN16	10686	genome.wustl.edu	37	chr3	190105955	190105955	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tacagcctgtttgtattattCttactgcaactcaagacacc	5	11	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:190105955C>G	ENST00000264734.2	+	1	295	c.47C>G	c.(46-48)tCt>tGt	p.S16C	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.S16C	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	16					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGTATTATTCTTACTGCAAC	0.493																																																	0													45	42	43					3																	190105955		2203	4300	6503	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.47C>G	3.37:g.190105955C>G	ENSP00000264734:p.Ser16Cys			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.S16C	ENST00000264734.2	37	c.47	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585257	0.28268	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93426	-2.87;-3.22	5.91	0.928	0.19443	.	0.568160	0.14870	N	0.293561	D	0.84142	0.5407	N	0.19112	0.55	0.09310	N	1	B;B	0.24368	0.102;0.004	B;B	0.24155	0.051;0.005	T	0.73616	-0.3926	10	0.62326	D	0.03	.	1.813	0.03094	0.1424:0.4863:0.138:0.2334	.	16;16	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	C	16	ENSP00000264734:S16C;ENSP00000414136:S16C	ENSP00000264734:S16C	S	+	2	0	CLDN16	191588649	0.644000	0.27277	0.007000	0.13788	0.302000	0.27658	0.238000	0.18004	-0.106000	0.12110	0.557000	0.71058	TCT	CLDN16	-	NULL		0.493	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	C	NM_006580		190105955	1	no_errors	ENST00000264734	ensembl	human	known	70_37	missense	SNP	0.043	G	G	190105955	C	G	190105955	3	3	100	1	0	0	0	0	1	0	0	0	3482	913	32	1	49	1	CLDN16	3	190105955	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	25199494	190105955	7916475	45	14486										
ADD1	118	genome.wustl.edu	37	chr4	2877717	2877717	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cctcacaaggagaggtacttCgaccgagtagatgagaacaa	11	9	1	3	rs199855248		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:2877717C>T	ENST00000398129.1	+	1	95	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ADD1_ENST00000398123.2_Silent_p.F25F|ADD1_ENST00000503455.2_Silent_p.F25F|ADD1_ENST00000446856.1_Silent_p.F25F|ADD1_ENST00000398125.1_Silent_p.F25F|ADD1_ENST00000355842.3_Silent_p.F25F|ADD1_ENST00000513328.2_Silent_p.F25F|ADD1_ENST00000264758.7_Silent_p.F25F			P35611	ADDA_HUMAN	adducin 1 (alpha)	25					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGGTACTTCGACCGAGTAG	0.522																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													132	133	133					4																	2877717		2203	4300	6503	SO:0001819	synonymous_variant	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.75C>T	4.37:g.2877717C>T			A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.F25	ENST00000398129.1	37	c.75	CCDS43205.1	4																																																																																			ADD1	-	NULL		0.522	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2877717	1	no_errors	ENST00000264758	ensembl	human	known	70_37	silent	SNP	0.740	T	T	2877717	C	T	2877717	2	4	100	1	0	0	0	0	0	0	0	1	304	883	31	1		1	ADD1	4	2877717	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		2877717	188276559	46	14487										
PPP2R2C	5522	genome.wustl.edu	37	chr4	6325074	6325074	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcctggaagatgtacaggttGttggtggcggcgatggcaat	16	6	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:6325074G>C	ENST00000382599.4	-	9	1515	c.1299C>G	c.(1297-1299)aaC>aaG	p.N433K	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N426K|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N426K|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N416K|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.N433K			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	433					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGTACAGGTTGTTGGTGGCGG	0.562																																																	0													211	153	172					4																	6325074		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1299C>G	4.37:g.6325074G>C	ENSP00000372042:p.Asn433Lys		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.N433K	ENST00000382599.4	37	c.1299		4	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903959	0.72754	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	H	0.94698	3.57	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;D;D	0.74674	0.942;0.984;0.961;0.96	T	0.78003	-0.2374	10	0.87932	D	0	-69.5259	16.6014	0.84816	0.0:0.0:1.0:0.0	.	426;433;416;433	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	K	433;426;416;433;426	ENSP00000335083:N433K;ENSP00000423649:N426K;ENSP00000422374:N416K;ENSP00000372042:N433K;ENSP00000425247:N426K	ENSP00000335083:N433K	N	-	3	2	PPP2R2C	6375975	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.399000	0.66314	2.397000	0.81536	0.561000	0.74099	AAC	PPP2R2C	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.562	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6325074	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6325074	G	C	6325074	3	2	100	1	0	0	0	0	1	0	0	0	12413	1368	48	4	48	4	PPP2R2C	4	6325074	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	3447357	6325074	184829202	47	14488										
CC2D2A	57545	genome.wustl.edu	37	chr4	15482840	15482840	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggagagctggttgttaaaaaGagcctgggcaggccaggcac	16	8	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:15482840G>C	ENST00000503292.1	+	5	427				CC2D2A_ENST00000507954.1_Missense_Mutation_p.K89N|CC2D2A_ENST00000413206.1_Intron|CC2D2A_ENST00000389652.5_Intron|CC2D2A_ENST00000503658.1_3'UTR|CC2D2A_ENST00000515124.1_Missense_Mutation_p.K89N|CC2D2A_ENST00000513811.1_Intron|CC2D2A_ENST00000511544.1_3'UTR|CC2D2A_ENST00000438599.2_3'UTR|CC2D2A_ENST00000424120.1_Intron	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ttgttaaaaagagcctgggca	0.527																																																	0																																										SO:0001627	intron_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.247+389G>C	4.37:g.15482840G>C			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	NULL	p.K89N	ENST00000503292.1	37	c.267	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	0.643	-0.812477	0.02798	.	.	ENSG00000048342	ENST00000507954;ENST00000515124	.	.	.	0.171	0.171	0.15026	.	.	.	.	.	T	0.27454	0.0674	N	0.12746	0.255	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.20571	-1.0271	7	0.87932	D	0	.	.	.	.	.	89	D6RB72	.	N	89	.	ENSP00000427221:K89N	K	+	3	2	CC2D2A	15091938	0.072000	0.21174	0.066000	0.19879	0.067000	0.16453	0.348000	0.20031	0.276000	0.22118	0.281000	0.19383	AAG	CC2D2A	-	NULL		0.527	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15482840	1	no_errors	ENST00000507954	ensembl	human	putative	70_37	missense	SNP	0.077	C	C	15482840	G	C	15482840	1	2	100	0	1	0	0	0	0	0	0	0	2733	933	33	1		1	CC2D2A	4	15482840	Intron	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	9157766	15482840	175671436	48	14489										
UGT2B15	7367	genome.wustl.edu	37	chr4	69433770	69433770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgccagaaggacatcaaattTtgactcttgtagttttctca	7	8	3	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:69433770T>C	ENST00000317746.2	-	1	475	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	145					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ACATCAAATTTTGACTCTTGT	0.403																																					Melanoma(18;649 833 28984 37818 38500)												0													138	145	143					4																	69433770		2086	3944	6030	SO:0001583	missense	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.433A>G	4.37:g.69433770T>C	ENSP00000320401:p.Lys145Glu			Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K145E	ENST00000317746.2	37	c.433	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	t	7.529	0.658307	0.14645	.	.	ENSG00000197888	ENST00000317746	T	0.63580	-0.05	2.66	1.33	0.21861	.	0.333667	0.25701	U	0.028870	T	0.60025	0.2237	L	0.57130	1.785	0.09310	N	1	.	.	.	.	.	.	T	0.54702	-0.8254	8	0.66056	D	0.02	.	6.2288	0.20724	0.0:0.1383:0.0:0.8617	.	.	.	.	E	145	ENSP00000320401:K145E	ENSP00000320401:K145E	K	-	1	0	UGT2B17	69116365	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.640000	0.24705	0.223000	0.20920	0.409000	0.27619	AAA	UGT2B17	-	pfam_UDP_glucos_trans		0.403	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	T	NM_001077		69433770	-1	no_errors	ENST00000317746	ensembl	human	known	70_37	missense	SNP	0.000	C	C	69433770	T	C	69433770	3	2	100	1	0	0	0	0	1	0	0	0	16989	1850	64	5	1183	5	UGT2B15	4	69433770	Missense_Mutation	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	53950930	69433770	121720506	49	14490										
ADAMTS3	9508	genome.wustl.edu	37	chr4	73176775	73176775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttgaacttaccacacactctCctcgcacacatatgctatat	3	14	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:73176775C>T	ENST00000286657.4	-	14	2081	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	682	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACACACTCTCCTCGCACACA	0.383																																					NSCLC(168;1941 2048 2918 13048 43078)												0													216	174	188					4																	73176775		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2045G>A	4.37:g.73176775C>T	ENSP00000286657:p.Gly682Glu		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G682E	ENST00000286657.4	37	c.2045	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787620	0.90367	.	.	ENSG00000156140	ENST00000286657	T	0.70164	-0.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93268	0.6649	10	0.87932	D	0	.	19.4627	0.94924	0.0:1.0:0.0:0.0	.	682	O15072	ATS3_HUMAN	E	682	ENSP00000286657:G682E	ENSP00000286657:G682E	G	-	2	0	ADAMTS3	73395639	1.000000	0.71417	0.999000	0.59377	0.776000	0.43924	7.461000	0.80834	2.709000	0.92574	0.655000	0.94253	GGA	ADAMTS3	-	prints_Peptidase_M12B_ADAM-TS		0.383	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	C			73176775	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73176775	C	T	73176775	3	4	100	1	0	0	0	0	1	0	0	0	267	855	30	1	1608	1	ADAMTS3	4	73176775	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	3743005	73176775	117977501	50	14491										
ANKRD17	26057	genome.wustl.edu	37	chr4	73956516	73956516	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	catagattctggtgttgactGagatgaaacaacagatcctc	9	8	1	5			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:73956516G>A	ENST00000358602.4	-	29	6945	c.6829C>T	c.(6829-6831)Cag>Tag	p.Q2277*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.Q2164*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.Q2026*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2277					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGTTGACTGAGATGAAACA	0.433																																																	0													176	184	181					4																	73956516		2203	4300	6503	SO:0001587	stop_gained	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6829C>T	4.37:g.73956516G>A	ENSP00000351416:p.Gln2277*		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q2277*	ENST00000358602.4	37	c.6829	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	46	12.885425	0.99703	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	.	.	.	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	.	.	.	X	2277;1684;2026;2164;661	.	ENSP00000332265:Q2026X	Q	-	1	0	ANKRD17	74175380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.241000	0.78201	2.696000	0.92011	0.655000	0.94253	CAG	ANKRD17	-	NULL		0.433	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	G	NM_032217		73956516	-1	no_errors	ENST00000358602	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	73956516	G	A	73956516	4	1	100	1	0	0	0	0	0	1	0	0	646	1299	45	1	1006	1	ANKRD17	4	73956516	Nonsense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	779741	73956516	117197760	51	14492										
WDFY3	23001	genome.wustl.edu	37	chr4	85707190	85707190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctttccggattcttgccactGttagagacgacacagagagt	10	10	1	2	rs144349462		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:85707190G>A	ENST00000295888.4	-	24	4411	c.4004C>T	c.(4003-4005)aCa>aTa	p.T1335I	WDFY3_ENST00000322366.6_Missense_Mutation_p.T1335I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1335					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTGCCACTGTTAGAGACGA	0.448																																																	0								G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	176	152	160		4004	5	0.7	4	dbSNP_134	160	0,8600		0,0,4300	no	missense	WDFY3	NM_014991.4	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1335/3527	85707190	1,13005	2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4004C>T	4.37:g.85707190G>A	ENSP00000295888:p.Thr1335Ile		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1335I	ENST00000295888.4	37	c.4004	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585088	0.86748	2.27E-4	0.0	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.69306	-0.39;-0.39	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.77313	2.365	0.80722	D	1	P	0.49961	0.93	P	0.44447	0.45	T	0.77242	-0.2660	10	0.51188	T	0.08	.	18.6284	0.91350	0.0:0.0:1.0:0.0	.	1335	Q8IZQ1	WDFY3_HUMAN	I	1335	ENSP00000318466:T1335I;ENSP00000295888:T1335I	ENSP00000295888:T1335I	T	-	2	0	WDFY3	85926214	1.000000	0.71417	0.749000	0.31150	0.957000	0.61999	9.296000	0.96104	2.447000	0.82792	0.563000	0.77884	ACA	WDFY3	-	NULL		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85707190	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	0.999	A	A	85707190	G	A	85707190	3	1	100	1	0	0	0	0	1	0	0	0	17301	1377	48	4	6756	4	WDFY3	4	85707190	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	11750674	85707190	105447086	52	14493										
INPP4B	8821	genome.wustl.edu	37	chr4	142950044	142950044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgcatttgatattcttcagtAcattctctatgcggcatcct	6	10	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:142950044A>G	ENST00000513000.1	-	27	3099	c.2666T>C	c.(2665-2667)gTa>gCa	p.V889A	INPP4B_ENST00000308502.4_Missense_Mutation_p.V889A|INPP4B_ENST00000508116.1_Missense_Mutation_p.V889A|INPP4B_ENST00000262992.4_Missense_Mutation_p.V889A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	889					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTCTTCAGTACATTCTCTAT	0.388																																																	0													124	112	116					4																	142950044		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2666T>C	4.37:g.142950044A>G	ENSP00000425487:p.Val889Ala		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.V889A	ENST00000513000.1	37	c.2666	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685753	0.68157	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.82	5.82	0.92795	.	0.482216	0.20659	N	0.088058	T	0.32793	0.0841	L	0.31371	0.925	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.04053	-1.0981	10	0.13108	T	0.6	.	16.1758	0.81851	1.0:0.0:0.0:0.0	.	889	O15327	INP4B_HUMAN	A	889	ENSP00000425487:V889A;ENSP00000262992:V889A;ENSP00000308441:V889A;ENSP00000423954:V889A	ENSP00000262992:V889A	V	-	2	0	INPP4B	143169494	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.319000	0.72871	2.225000	0.72522	0.477000	0.44152	GTA	INPP4B	-	NULL		0.388	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	A	NM_003866		142950044	-1	no_errors	ENST00000262992	ensembl	human	known	70_37	missense	SNP	0.999	G	G	142950044	A	G	142950044	3	3	100	1	0	0	0	0	1	0	0	0	7773	391	14	5	112	5	INPP4B	4	142950044	Missense_Mutation	SNP	A	TCGA-EK-A2PL-01A-11D-A18J-09	57242854	142950044	48204232	53	14494										
FBXW7	55294	genome.wustl.edu	37	chr4	153247367	153247367	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aaccctaagagtggcatctcGagaaccgctaacaactctgc	8	13	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:153247367G>C	ENST00000281708.4	-	10	2664	c.1435C>G	c.(1435-1437)Cga>Gga	p.R479G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	18	Substitution - Nonsense(9)|Substitution - coding silent(5)|Substitution - Missense(3)|Unknown(1)	lung(10)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(1)											83	78	79					4																	153247367		2203	4299	6502	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1435C>G	4.37:g.153247367G>C	ENSP00000281708:p.Arg479Gly		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R479G	ENST00000281708.4	37	c.1435	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174750	0.78452	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.72	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	N	0.11673	0.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.58411	-0.7641	10	0.87932	D	0	-12.7081	15.6805	0.77364	0.0:0.0:0.8491:0.1508	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	479;361;399;303	ENSP00000281708:R479G;ENSP00000296555:R361G;ENSP00000263981:R399G;ENSP00000377528:R303G	ENSP00000263981:R399G	R	-	1	2	FBXW7	153466817	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.541000	0.73865	1.492000	0.48499	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247367	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153247367	G	C	153247367	3	2	100	1	0	0	0	0	1	0	0	0	5787	1066	37	1	700	1	FBXW7	4	153247367	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	10297323	153247367	37906909	54	14495										
GUCY1A3	2982	genome.wustl.edu	37	chr4	156643280	156643280	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tttttggaaacaatgtcactCtggctaacaaatttgagtcc	7	8	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:156643280C>T	ENST00000296518.7	+	9	2016	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	GUCY1A3_ENST00000511507.1_Silent_p.L603L|GUCY1A3_ENST00000455639.2_Silent_p.L603L|GUCY1A3_ENST00000393832.3_Silent_p.L345L|GUCY1A3_ENST00000506455.1_Silent_p.L603L|GUCY1A3_ENST00000513574.1_Silent_p.L603L|GUCY1A3_ENST00000511108.1_Silent_p.L603L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	603	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAATGTCACTCTGGCTAACAA	0.403																																																	0													173	166	169					4																	156643280		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1807C>T	4.37:g.156643280C>T			D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L603	ENST00000296518.7	37	c.1807	CCDS34085.1	4																																																																																			GUCY1A3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	C			156643280	1	no_errors	ENST00000296518	ensembl	human	known	70_37	silent	SNP	1.000	T	T	156643280	C	T	156643280	2	4	100	1	0	0	0	0	0	0	0	1	6914	912	32	1		1	GUCY1A3	4	156643280	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	3395913	156643280	34510996	55	14496										
TMEM192	201931	genome.wustl.edu	37	chr4	166000823	166000823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gagcctctcacgttctacttGgctgacagcccaggtctgag	11	13	3	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:166000823G>C	ENST00000306480.6	-	6	948	c.803C>G	c.(802-804)cCa>cGa	p.P268R	TMEM192_ENST00000506087.1_Missense_Mutation_p.P264R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	268						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CGTTCTACTTGGCTGACAGCC	0.522																																																	0													88	84	85					4																	166000823		1972	4165	6137	SO:0001583	missense	201931			BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.803C>G	4.37:g.166000823G>C	ENSP00000305069:p.Pro268Arg		Q7Z3A1|Q8N928	Missense_Mutation	SNP	NULL	p.P268R	ENST00000306480.6	37	c.803	CCDS43279.1	4	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070175	0.36566	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	4.21	0.49690	.	0.282167	0.31156	N	0.008148	T	0.33527	0.0866	L	0.57536	1.79	0.09310	N	1	P	0.42203	0.773	B	0.40009	0.316	T	0.30995	-0.9959	9	0.72032	D	0.01	-19.7774	7.5004	0.27513	0.0835:0.0:0.7519:0.1647	.	268	Q8IY95	TM192_HUMAN	R	268;264	.	ENSP00000305069:P268R	P	-	2	0	TMEM192	166220273	0.965000	0.33210	0.002000	0.10522	0.009000	0.06853	1.801000	0.38843	0.830000	0.34757	0.591000	0.81541	CCA	TMEM192	-	NULL		0.522	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM192	HGNC	protein_coding	OTTHUMT00000364310.3	G	NM_152681		166000823	-1	no_errors	ENST00000306480	ensembl	human	known	70_37	missense	SNP	0.047	C	C	166000823	G	C	166000823	3	2	100	1	0	0	0	0	1	0	0	0	16145	1348	47	4	16	4	TMEM192	4	166000823	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	9357543	166000823	25153453	56	14497										
SLC12A7	10723	genome.wustl.edu	37	chr5	1081831	1081831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttcttctccacaaacgccccCgcgtgcgcgtacgtactcca	7	18	2	0	rs370417695		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:1081831C>T	ENST00000264930.5	-	9	1201	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	386					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAAACGCCCCCGCGTGCGCGT	0.662																																																	0								C		0,4402		0,0,2201	72	70	70		1158	0.6	0	5		70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLC12A7	NM_006598.2		0,3,6498	TT,TC,CC		0.0349,0.0,0.0231		386/1084	1081831	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1158G>A	5.37:g.1081831C>T			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A386	ENST00000264930.5	37	c.1158	CCDS34129.1	5																																																																																			SLC12A7	-	tigrfam_Na/K/Cl_cotransptS		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	C	NM_006598		1081831	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	silent	SNP	0.010	T	T	1081831	C	T	1081831	2	4	100	1	0	0	0	0	0	0	0	1	14418	639	23	2		2	SLC12A7	5	1081831	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		1081831	179833429	57	14498										
OSMR	9180	genome.wustl.edu	37	chr5	38876431	38876431	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aggaattgaaaatggtatttCagatccagatcagtaggatt	10	4	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:38876431C>T	ENST00000274276.3	+	3	604	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	OSMR_ENST00000502536.1_Nonsense_Mutation_p.Q68*	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	68					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATGGTATTTCAGATCCAGAT	0.348																																																	0													96	87	90					5																	38876431		2203	4300	6503	SO:0001587	stop_gained	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.202C>T	5.37:g.38876431C>T	ENSP00000274276:p.Gln68*		Q6P4E8|Q96QJ6	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q68*	ENST00000274276.3	37	c.202	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.278513	0.98182	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	.	.	.	5.11	4.23	0.50019	.	1.195770	0.05590	N	0.574530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.7036	0.51585	0.0:0.8221:0.1779:0.0	.	.	.	.	X	68	.	ENSP00000274276:Q68X	Q	+	1	0	OSMR	38912188	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.271000	0.43364	1.497000	0.48584	0.561000	0.74099	CAG	OSMR	-	NULL		0.348	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	C	NM_003999		38876431	1	no_errors	ENST00000274276	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38876431	C	T	38876431	4	4	100	1	0	0	0	0	0	1	0	0	11316	827	29	1	208	1	OSMR	5	38876431	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	37794600	38876431	142038829	58	14499										
AP3B1	8546	genome.wustl.edu	37	chr5	77423876	77423876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	actctattacttctacatttCgaactgatgggtcgggcgcc	9	11	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:77423876C>T	ENST00000255194.6	-	17	2121	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	AP3B1_ENST00000519295.1_Missense_Mutation_p.R600Q	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	649					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCTACATTTCGAACTGATGG	0.398									Hermansky-Pudlak syndrome																																								0													79	82	81					5																	77423876		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1946G>A	5.37:g.77423876C>T	ENSP00000255194:p.Arg649Gln		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.R649Q	ENST00000255194.6	37	c.1946	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.851993	0.97023	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.69435	-0.4;1.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90211	0.4264	10	0.87932	D	0	-9.1535	20.2983	0.98569	0.0:1.0:0.0:0.0	.	649	O00203	AP3B1_HUMAN	Q	649;600;649;553	ENSP00000255194:R649Q;ENSP00000430597:R600Q	ENSP00000255194:R649Q	R	-	2	0	AP3B1	77459632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.802000	0.96397	0.655000	0.94253	CGA	AP3B1	-	pirsf_AP3_beta		0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	C			77423876	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77423876	C	T	77423876	3	4	100	1	0	0	0	0	1	0	0	0	744	884	31	1	1382	1	AP3B1	5	77423876	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	38547445	77423876	103491384	59	14500										
ARRDC3	57561	genome.wustl.edu	37	chr5	90671370	90671370	+	Frame_Shift_Del	DEL	T	T	-													0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aattttggcacttaaggataTtgggcctgaggtacagaacc							TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:90671370delT	ENST00000265138.3	-	4	837	c.571delA	c.(571-573)atafs	p.I191fs	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	191					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CTTAAGGATATTGGGCCTGAG	0.393																																																	0													123	130	128					5																	90671370		2203	4300	6503	SO:0001589	frameshift_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.571delA	5.37:g.90671370delT	ENSP00000265138:p.Ile191fs		A8K6T8|Q9P2H1	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.I191fs	ENST00000265138.3	37	c.571	CCDS34202.1	5																																																																																			ARRDC3	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.393	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC3	HGNC	protein_coding	OTTHUMT00000369763.2	T	NM_020801		90671370	-1	no_errors	ENST00000265138	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	90671370	T	-	90671370	7	5	100	1	0	1	0	1	0	0	0	0	985	1493	52	0	693	0	ARRDC3	5	90671370	Frame_Shift_Del	DEL	T	TCGA-EK-A2PL-01A-11D-A18J-09	13247494	90671370	90243890	60	14501										
SPATA9	83890	genome.wustl.edu	37	chr5	95018273	95018273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	taggatggtgggaaattcatCtttaaactcatctacaaggt	9	6	4	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:95018273C>G	ENST00000274432.8	-	2	250	c.109G>C	c.(109-111)Gat>Cat	p.D37H	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.D37H	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGAAATTCATCTTTAAACTCA	0.318																																																	0													100	103	102					5																	95018273		2203	4300	6503	SO:0001583	missense	83890			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.109G>C	5.37:g.95018273C>G	ENSP00000274432:p.Asp37His		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.D37H	ENST00000274432.8	37	c.109	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390369	0.62066	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.60920	0.15	4.7	4.7	0.59300	.	0.000000	0.47852	D	0.000204	T	0.63640	0.2528	L	0.27053	0.805	0.37487	D	0.916216	D	0.89917	1.0	D	0.91635	0.999	T	0.70554	-0.4840	10	0.87932	D	0	-23.7644	13.0112	0.58731	0.0:1.0:0.0:0.0	.	37	Q9BWV2	SPAT9_HUMAN	H	37	ENSP00000274432:D37H	ENSP00000274432:D37H	D	-	1	0	SPATA9	95044029	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.366000	0.44204	2.429000	0.82318	0.563000	0.77884	GAT	SPATA9	-	NULL		0.318	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	C	NM_031952		95018273	-1	no_errors	ENST00000274432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95018273	C	G	95018273	3	3	100	1	0	0	0	0	1	0	0	0	15046	913	32	1	671	1	SPATA9	5	95018273	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	4346903	95018273	85896987	61	14502										
WDR36	134430	genome.wustl.edu	37	chr5	110440408	110440408	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cttggcagatatggatatttGatggtcctacaggtgaaggc	13	6	0	3	rs75923196		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:110440408G>C	ENST00000513710.2	+	9	1091	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	WDR36_ENST00000506538.2_Missense_Mutation_p.D363H|WDR36_ENST00000505303.1_Missense_Mutation_p.D307H			Q8NI36	WDR36_HUMAN	WD repeat domain 36	363					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ATGGATATTTGATGGTCCTAC	0.403																																																	0													200	190	193					5																	110440408		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1087G>C	5.37:g.110440408G>C	ENSP00000424628:p.Asp363His		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D363H	ENST00000513710.2	37	c.1087	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766279	0.90020	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.74526	-0.85;-0.85;3.19	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90569	0.4521	10	0.87932	D	0	-24.7541	20.4135	0.99023	0.0:0.0:1.0:0.0	.	363	Q8NI36	WDR36_HUMAN	H	363;363;307	ENSP00000423067:D363H;ENSP00000424628:D363H;ENSP00000422158:D307H	ENSP00000422158:D307H	D	+	1	0	WDR36	110468307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.869000	0.92326	2.835000	0.97688	0.591000	0.81541	GAT	WDR36	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.403	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	G	NM_139281		110440408	1	no_errors	ENST00000506538	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110440408	G	C	110440408	3	2	100	1	0	0	0	0	1	0	0	0	17321	1290	45	1	1121	1	WDR36	5	110440408	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	15422135	110440408	70474852	62	14503										
PCDHA5	56143	genome.wustl.edu	37	chr5	140202753	140202753	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agtataccgtgttcgtgaagGagaacaacccgccaggctgc	12	11	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:140202753G>T	ENST00000529859.1	+	1	1393	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.E465*|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.E465*|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	465	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGAAGGAGAACAACCC	0.662																																																	0													69	73	72					5																	140202753		2202	4300	6502	SO:0001587	stop_gained	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1393G>T	5.37:g.140202753G>T	ENSP00000436557:p.Glu465*		O75284|Q8N4R3	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E465*	ENST00000529859.1	37	c.1393	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.167321	0.97343	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0688	0.80909	0.0:0.0:1.0:0.0	.	.	.	.	X	465	.	ENSP00000367366:E465X	E	+	1	0	PCDHA5	140182937	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.611000	0.98342	1.827000	0.53221	0.461000	0.40582	GAG	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	G	NM_018908		140202753	1	no_errors	ENST00000529859	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	140202753	G	T	140202753	4	4	100	1	0	0	0	0	0	1	0	0	11551	1175	41	3	1395	3	PCDHA5	5	140202753	Nonsense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	29762345	140202753	40712507	63	14504										
RGS14	10636	genome.wustl.edu	37	chr5	176794490	176794490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	accgcgagtgcctgctagccGaagccgagggacgccctctg	14	15	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:176794490G>A	ENST00000408923.3	+	6	747	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	187					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCTAGCCGAAGCCGAGGG	0.672																																					NSCLC(47;353 1896 28036)												0													21	23	22					5																	176794490		2004	4174	6178	SO:0001583	missense	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.559G>A	5.37:g.176794490G>A	ENSP00000386229:p.Glu187Lys		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E187K	ENST00000408923.3	37	c.559	CCDS43405.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.120955	0.94385	.	.	ENSG00000169220	ENST00000408923	T	0.01787	4.64	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	M	0.63843	1.955	0.46542	D	0.999099	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.69307	0.963;0.932;0.905	T	0.10132	-1.0643	10	0.48119	T	0.1	-27.7924	14.632	0.68663	0.0:0.1459:0.854:0.0	.	34;34;187	O43566-5;O43566-4;O43566	.;.;RGS14_HUMAN	K	187	ENSP00000386229:E187K	ENSP00000386229:E187K	E	+	1	0	RGS14	176727096	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.635000	0.54309	2.344000	0.79699	0.313000	0.20887	GAA	RGS14	-	NULL		0.672	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	G	NM_006480		176794490	1	no_errors	ENST00000408923	ensembl	human	known	70_37	missense	SNP	0.998	A	A	176794490	G	A	176794490	3	1	100	1	0	0	0	0	1	0	0	0	13327	1059	37	1	581	1	RGS14	5	176794490	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	36591737	176794490	4120770	64	14505										
KDM1B	221656	genome.wustl.edu	37	chr6	18212785	18212785	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agtttaatccaccgttgtcaGagaagaagatgaaggctatc	10	7	1	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:18212785G>A	ENST00000297792.5	+	14	1414	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	KDM1B_ENST00000388870.2_Missense_Mutation_p.E646K|KDM1B_ENST00000397244.1_Missense_Mutation_p.E414K|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	645					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACCGTTGTCAGAGAAGAAGAT	0.398																																																	0													202	181	188					6																	18212785		2203	4300	6503	SO:0001583	missense	221656			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1237G>A	6.37:g.18212785G>A	ENSP00000297792:p.Glu413Lys		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.E646K	ENST00000297792.5	37	c.1936	CCDS34343.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029438	0.75504	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	D;D;D	0.92446	-3.04;-3.04;-3.04	5.79	5.79	0.91817	Amine oxidase (1);	0.100098	0.64402	D	0.000003	D	0.93517	0.7931	L	0.41236	1.265	0.80722	D	1	B;D	0.76494	0.013;0.999	B;D	0.81914	0.012;0.995	D	0.92473	0.5987	10	0.42905	T	0.14	-1.0639	20.0349	0.97554	0.0:0.0:1.0:0.0	.	645;413	Q8NB78;A2A2C6	KDM1B_HUMAN;.	K	646;414;413;645	ENSP00000373522:E646K;ENSP00000380419:E414K;ENSP00000297792:E413K	ENSP00000297792:E413K	E	+	1	0	KDM1B	18320764	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	9.443000	0.97568	2.744000	0.94065	0.650000	0.86243	GAG	KDM1B	-	pfam_Amino_oxidase		0.398	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	G	NM_153042		18212785	1	no_errors	ENST00000388870	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18212785	G	A	18212785	3	1	100	1	0	0	0	0	1	0	0	0	8143	943	33	1	1283	1	KDM1B	6	18212785	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		18212785	152902282	65	14506										
HLA-A	3105	genome.wustl.edu	37	chr6	29911899	29911900	+	Splice_Site	INS	-	-	C													0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttctgactcttcccgtcagaINScccccccaagacacatatga					rs199474608|rs199474609|rs386698554|rs377011235|rs41544717		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:29911899_29911900insC	ENST00000396634.1	+	6	961_962	c.620_621insC	c.(619-624)gacccc>gaCcccc	p.DP207fs	HLA-A_ENST00000376802.2_Splice_Site_p.DP207fs|HLA-A_ENST00000376806.5_Splice_Site_p.DP207fs|HLA-A_ENST00000376809.5_Splice_Site_p.DP207fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	207	Alpha-3.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAGA	0.574									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.620-1->C	6.37:g.29911906_29911906dupC			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.K210fs	ENST00000396634.1	37	c.620_621	CCDS34373.1	6																																																																																			HLA-A	-	pfscan_Ig-like		0.574	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	NM_002116	Frame_Shift_Ins	29911900	1	no_errors	ENST00000376806	ensembl	human	known	70_37	frame_shift_ins	INS	0.903:0.000	C	C	29911900	-	C	29911899	8	5	100	1	0	1	1	0	0	0	1	0	7215	289	10	0	634	0	HLA-A	6	29911899	Splice_Site	INS	-	TCGA-EK-A2PL-01A-11D-A18J-09	11699114	29911899	141203168	66	14507										
PRICKLE4	29964	genome.wustl.edu	37	chr6	41754697	41754697	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggcaggagcaatgccgcctgGagactattcgtgatcccaag	13	11	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:41754697G>C	ENST00000394260.1	+	5	865	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.E329Q|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.E329Q|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	289						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E329*(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATGCCGCCTGGAGACTATTCG	0.602											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Nonsense(2)	endometrium(2)											119	142	134					6																	41754697		2203	4300	6503	SO:0001583	missense	29964			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.865G>C	6.37:g.41754697G>C	ENSP00000377803:p.Glu289Gln	903	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.E329Q	ENST00000394260.1	37	c.985		6	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908923	0.33721	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	D;D;D	0.85171	-1.95;-1.95;-1.95	3.72	-1.37	0.09056	.	1.162450	0.06360	N	0.711577	T	0.47600	0.1454	N	0.14661	0.345	0.20074	N	0.999937	B	0.09022	0.002	B	0.15484	0.013	T	0.25293	-1.0136	10	0.34782	T	0.22	-1.1846	1.3398	0.02152	0.3533:0.1444:0.3636:0.1387	.	329	Q2TBC4-3	.	Q	329;329;289	ENSP00000404911:E329Q;ENSP00000377806:E329Q;ENSP00000377803:E289Q	ENSP00000335185:E329Q	E	+	1	0	PRICKLE4	41862675	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	0.548000	0.23314	-0.318000	0.08665	-0.254000	0.11334	GAG	PRICKLE4	-	NULL		0.602	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	HGNC	protein_coding	OTTHUMT00000303948.1	G	NM_013397		41754697	1	no_errors	ENST00000335515	ensembl	human	known	70_37	missense	SNP	0.019	C	C	41754697	G	C	41754697	3	2	100	1	0	0	0	0	1	0	0	0	12516	1175	41	1	1007	1	PRICKLE4	6	41754697	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	11842798	41754697	129360370	67	14508										
CUL9	23113	genome.wustl.edu	37	chr6	43182816	43182816	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgtttctttcctcctatccaGgtgctggaggcctggcagaa	11	11	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:43182816G>T	ENST00000252050.4	+	30	5772		c.e30-1		CUL9_ENST00000354495.3_Splice_Site|CUL9_ENST00000372647.2_Splice_Site|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTCCTATCCAGGTGCTGGAGG	0.537																																																	0													74	79	77					6																	43182816		2203	4300	6503	SO:0001630	splice_region_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5689-1G>T	6.37:g.43182816G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	-	e29-1	ENST00000252050.4	37	c.5689-1	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105650	0.77096	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0368	0.92982	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUL9	43290794	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.521000	0.81832	2.492000	0.84095	0.655000	0.94253	.	CUL9	-	-		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089	Intron	43182816	1	no_errors	ENST00000252050	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	43182816	G	T	43182816	5	4	100	1	0	0	0	0	0	0	1	0	4066	1014	35	4	5802	4	CUL9	6	43182816	Splice_Site	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1428119	43182816	127932251	68	14509										
TNFRSF21	27242	genome.wustl.edu	37	chr6	47251693	47251693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccatggccattgcagtagtaGatccatttctcccggttctg	9	12	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:47251693G>C	ENST00000296861.2	-	3	1617	c.1224C>G	c.(1222-1224)atC>atG	p.I408M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	408					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCAGTAGTAGATCCATTTCT	0.512																																																	0													99	102	101					6																	47251693		2203	4300	6503	SO:0001583	missense	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1224C>G	6.37:g.47251693G>C	ENSP00000296861:p.Ile408Met		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.I408M	ENST00000296861.2	37	c.1224	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383665	0.61845	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.90676	-2.71	6.17	2.97	0.34412	Death (1);DEATH-like (1);	0.181765	0.64402	D	0.000017	D	0.84447	0.5474	N	0.24115	0.695	0.50632	D	0.999881	D	0.60160	0.987	P	0.55577	0.779	D	0.86076	0.1541	10	0.87932	D	0	.	10.5188	0.44907	0.1372:0.1146:0.7481:0.0	.	408	O75509	TNR21_HUMAN	M	408;97	ENSP00000296861:I408M	ENSP00000296861:I408M	I	-	3	3	TNFRSF21	47359652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.871000	0.48459	0.898000	0.36418	0.655000	0.94253	ATC	TNFRSF21	-	superfamily_DEATH-like,smart_Death,prints_TNFR_21		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	G	NM_014452		47251693	-1	no_errors	ENST00000296861	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47251693	G	C	47251693	3	2	100	1	0	0	0	0	1	0	0	0	16325	932	33	1	759	1	TNFRSF21	6	47251693	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	4068877	47251693	123863374	69	14510										
KIAA1919	91749	genome.wustl.edu	37	chr6	111588064	111588064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gctctgctctctagctccggGctaaatgaatatgaggaaga	11	9	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:111588064G>T	ENST00000368847.4	+	4	1652	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	433					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTAGCTCCGGGCTAAATGAAT	0.398																																																	0													66	71	69					6																	111588064		2203	4300	6503	SO:0001819	synonymous_variant	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1299G>T	6.37:g.111588064G>T			A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G433	ENST00000368847.4	37	c.1299	CCDS5090.1	6																																																																																			KIAA1919	-	NULL		0.398	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	G	NM_153369		111588064	1	no_errors	ENST00000368847	ensembl	human	known	70_37	silent	SNP	0.000	T	T	111588064	G	T	111588064	2	4	100	1	0	0	0	0	0	0	0	1	8282	1190	42	4		4	KIAA1919	6	111588064	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	64336371	111588064	59527003	70	14511										
REV3L	5980	genome.wustl.edu	37	chr6	111697429	111697429	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tttttgaatgatttaagtcaGaaaagttgaaagaatttttg	8	1	1	5			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:111697429G>C	ENST00000358835.3	-	14	2583	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C	REV3L_ENST00000368805.1_Missense_Mutation_p.S710C|REV3L_ENST00000368802.3_Missense_Mutation_p.S710C|REV3L_ENST00000435970.1_Missense_Mutation_p.S632C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	710					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTTAAGTCAGAAAAGTTGAA	0.318								DNA polymerases (catalytic subunits)																																									0													58	63	62					6																	111697429		2203	4298	6501	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2129C>G	6.37:g.111697429G>C	ENSP00000351697:p.Ser710Cys		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S710C	ENST00000358835.3	37	c.2129	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045889	0.36085	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01705	4.77;4.77;4.77;4.68	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.560624	0.17326	N	0.178300	T	0.00967	0.0032	L	0.27053	0.805	0.27918	N	0.93838	P	0.50710	0.938	B	0.43360	0.417	T	0.52335	-0.8589	10	0.66056	D	0.02	-15.8659	12.7741	0.57437	0.0749:0.0:0.9251:0.0	.	710	O60673	DPOLZ_HUMAN	C	710;710;710;632	ENSP00000357792:S710C;ENSP00000357795:S710C;ENSP00000351697:S710C;ENSP00000402003:S632C	ENSP00000351697:S710C	S	-	2	0	REV3L	111804122	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.415000	0.66411	2.607000	0.88179	0.563000	0.77884	TCT	REV3L	-	superfamily_RNaseH-like_dom		0.318	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	G	NM_002912		111697429	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111697429	G	C	111697429	3	2	100	1	0	0	0	0	1	0	0	0	13270	942	33	1	7343	1	REV3L	6	111697429	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	109365	111697429	59417638	71	14512										
HDDC2	51020	genome.wustl.edu	37	chr6	125621802	125621803	+	Frame_Shift_Del	DEL	CT	CT	-													0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tacccagccagttcgtgggaCtctctgataaatatgaagaa							TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:125621802_125621803delCT	ENST00000398153.2	-	2	129_130	c.87_88delAG	c.(85-90)agagtcfs	p.RV29fs	HDDC2_ENST00000368377.4_Frame_Shift_Del_p.RV29fs|HDDC2_ENST00000608284.1_Frame_Shift_Del_p.RV29fs|HDDC2_ENST00000608295.1_Frame_Shift_Del_p.RV29fs	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	29						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GTTCGTGGGACTCTCTGATAAA	0.416																																																	0																																										SO:0001589	frameshift_variant	51020			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 74"	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.87_88delAG	6.37:g.125621806_125621807delCT	ENSP00000381220:p.Arg29fs		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Frame_Shift_Del	DEL	pfam_HD_domain,smart_HD/PDEase_dom	p.R29fs	ENST00000398153.2	37	c.88_87	CCDS43503.1	6																																																																																			HDDC2	-	NULL		0.416	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	CT	NM_016063		125621803	-1	no_errors	ENST00000398153	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.998	-	-	125621803	CT	-	125621802	7	5	100	1	0	1	0	1	0	0	0	0	7036	565	20	0	546	0	HDDC2	6	125621802	Frame_Shift_Del	DEL	CT	TCGA-EK-A2PL-01A-11D-A18J-09	13924373	125621802	45493265	72	14513										
C6orf174	387104	genome.wustl.edu	37	chr6	127836178	127836178	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcgtccatctcggttctcagCtcatcgatctcgttctgagg	9	13	5	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:127836178C>G	ENST00000525778.1	-	3	1861	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	SOGA3_ENST00000481848.2_Missense_Mutation_p.E372D|SOGA3_ENST00000465909.2_Missense_Mutation_p.E372D|SOGA3_ENST00000556132.1_Missense_Mutation_p.E372D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E372D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	372					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGGTTCTCAGCTCATCGATCT	0.532																																																	0													140	141	141					6																	127836178		2112	4226	6338	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1116G>C	6.37:g.127836178C>G	ENSP00000434570:p.Glu372Asp			Missense_Mutation	SNP	pfam_DUF3166	p.E372D	ENST00000525778.1	37	c.1116	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656775	0.67586	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.65	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.50333	1.59	0.43913	D	0.996556	D	0.76494	0.999	D	0.66196	0.942	T	0.02958	-1.1089	10	0.40728	T	0.16	-11.8009	13.6319	0.62200	0.0:0.8268:0.0:0.1732	.	372	Q5TF21	CF174_HUMAN	D	372	ENSP00000451768:E372D;ENSP00000357251:E372D;ENSP00000434570:E372D;ENSP00000435559:E372D	ENSP00000435559:E372D	E	-	3	2	C6orf174	127877871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.119000	0.41958	0.759000	0.33084	0.557000	0.71058	GAG	SOGA3	-	NULL		0.532	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127836178	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127836178	C	G	127836178	3	3	100	1	0	0	0	0	1	0	0	0	2350	796	28	4	1747	4	C6orf174	6	127836178	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	2214376	127836178	43278889	73	14514										
MED23	9439	genome.wustl.edu	37	chr6	131912530	131912530	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gctaacgtatagctacaactCatctcagagtaggactgatg	9	9	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:131912530C>T	ENST00000368068.3	-	26	3788	c.3609G>A	c.(3607-3609)atG>atA	p.M1203I	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.M1209I|MED23_ENST00000368060.3_Missense_Mutation_p.M1203I|MED23_ENST00000403834.3_Missense_Mutation_p.M1209I|MED23_ENST00000545957.1_Missense_Mutation_p.M844I|MED23_ENST00000354577.4_Missense_Mutation_p.M1209I	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1203					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGCTACAACTCATCTCAGAGT	0.448																																																	0													115	101	106					6																	131912530		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3609G>A	6.37:g.131912530C>T	ENSP00000357047:p.Met1203Ile		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.M1209I	ENST00000368068.3	37	c.3627	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227180	0.79576	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.22421	0.69	0.80722	D	1	B;B	0.33044	0.395;0.343	B;B	0.39419	0.299;0.198	T	0.65207	-0.6224	10	0.38643	T	0.18	-23.8426	19.9813	0.97326	0.0:1.0:0.0:0.0	.	1203;1209	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	I	1209;1203;1209;1203;1209;844	ENSP00000346588:M1209I;ENSP00000357047:M1203I;ENSP00000384536:M1209I;ENSP00000357039:M1203I;ENSP00000357037:M1209I;ENSP00000439977:M844I	ENSP00000346588:M1209I	M	-	3	0	MED23	131954223	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.764000	0.85297	2.726000	0.93360	0.655000	0.94253	ATG	MED23	-	pfam_Mediator_Med23		0.448	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	C			131912530	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131912530	C	T	131912530	3	4	100	1	0	0	0	0	1	0	0	0	9464	826	29	1	520	1	MED23	6	131912530	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	4076352	131912530	39202537	74	14515										
SYNE1	23345	genome.wustl.edu	37	chr6	152782776	152782776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgacatggtcgcaaacatttCttttccttcttcttgggggc	9	10	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:152782776C>G	ENST00000367255.5	-	21	2951	c.2350G>C	c.(2350-2352)Gaa>Caa	p.E784Q	SYNE1_ENST00000495090.2_Missense_Mutation_p.E351Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E791Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.E784Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E791Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E784Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E791Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E784Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E774Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	784					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAAACATTTCTTTTCCTTCT	0.438										HNSCC(10;0.0054)																																							0													228	179	196					6																	152782776		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2350G>C	6.37:g.152782776C>G	ENSP00000356224:p.Glu784Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E784Q	ENST00000367255.5	37	c.2350	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794205	0.31777	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;D;D;D;T	0.87729	0.71;0.71;0.62;0.71;0.74;-2.15;-2.29;-2.28;2.24	6.07	5.17	0.71159	.	0.092353	0.46758	D	0.000267	T	0.75852	0.3906	L	0.47716	1.5	0.80722	D	1	P;B;B;B;B;B;B	0.37015	0.578;0.013;0.026;0.121;0.112;0.013;0.056	B;B;B;B;B;B;B	0.37047	0.24;0.013;0.046;0.043;0.036;0.013;0.029	T	0.75684	-0.3232	10	0.28530	T	0.3	.	13.932	0.64001	0.0:0.9237:0.0:0.0763	.	767;784;351;774;784;784;791	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Q	784;791;784;791;791;784;774;784;351	ENSP00000356224:E784Q;ENSP00000396024:E791Q;ENSP00000265368:E784Q;ENSP00000390975:E791Q;ENSP00000341887:E791Q;ENSP00000356222:E784Q;ENSP00000356217:E774Q;ENSP00000414510:E784Q;ENSP00000438508:E351Q	ENSP00000265368:E784Q	E	-	1	0	SYNE1	152824469	1.000000	0.71417	0.704000	0.30370	0.730000	0.41778	3.814000	0.55643	1.499000	0.48617	0.650000	0.86243	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152782776	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.974	G	G	152782776	C	G	152782776	3	3	100	1	0	0	0	0	1	0	0	0	15475	922	32	1	24620	1	SYNE1	6	152782776	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	20870246	152782776	18332291	75	14516										
MACC1	346389	genome.wustl.edu	37	chr7	20193845	20193845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aacatctccagtgtttcctcGatgaggaatttcatatgcct	7	10	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:20193845G>C	ENST00000400331.5	-	6	2625	c.2317C>G	c.(2317-2319)Cga>Gga	p.R773G	MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000589011.1_Missense_Mutation_p.R773G|MACC1_ENST00000332878.4_Missense_Mutation_p.R773G	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	773					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTGTTTCCTCGATGAGGAATT	0.408																																																	0													198	170	179					7																	20193845		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2317C>G	7.37:g.20193845G>C	ENSP00000383185:p.Arg773Gly		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.R773G	ENST00000400331.5	37	c.2317	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.33216	1.42;1.42	5.45	3.62	0.41486	.	0.680599	0.15549	N	0.256532	T	0.31167	0.0788	M	0.68593	2.085	0.29667	N	0.842787	P	0.40515	0.719	B	0.37780	0.258	T	0.29579	-1.0007	10	0.87932	D	0	-0.3925	8.4103	0.32640	0.0702:0.0:0.6511:0.2787	.	773	Q6ZN28	MACC1_HUMAN	G	773	ENSP00000383185:R773G;ENSP00000328410:R773G	ENSP00000328410:R773G	R	-	1	2	MACC1	20160370	0.999000	0.42202	0.583000	0.28640	0.757000	0.42996	2.754000	0.47532	0.636000	0.30508	0.655000	0.94253	CGA	MACC1	-	NULL		0.408	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	G	NM_182762		20193845	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	missense	SNP	0.648	C	C	20193845	G	C	20193845	3	2	100	1	0	0	0	0	1	0	0	0	9166	1066	37	1	249	1	MACC1	7	20193845	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		20193845	138944818	76	14517										
TNS3	64759	genome.wustl.edu	37	chr7	47384590	47384590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	actccttgctacttaaaattCtgccatcgataatatcgagg	6	10	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:47384590C>T	ENST00000398879.1	-	19	2864	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K	TNS3_ENST00000311160.9_Missense_Mutation_p.R833K|TNS3_ENST00000355730.3_Missense_Mutation_p.R593K			Q68CZ2	TENS3_HUMAN	tensin 3	833					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACTTAAAATTCTGCCATCGAT	0.483																																																	0													101	98	99					7																	47384590		1992	4168	6160	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2498G>A	7.37:g.47384590C>T	ENSP00000381854:p.Arg833Lys		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R833K	ENST00000398879.1	37	c.2498	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117584	0.08881	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93811	-2.84;-2.84;-3.29;-2.96	5.68	4.75	0.60458	.	1.353330	0.04255	N	0.339344	D	0.88418	0.6431	L	0.29908	0.895	0.80722	D	1	B	0.29716	0.255	B	0.24394	0.053	T	0.69544	-0.5117	10	0.09843	T	0.71	-27.4936	11.1092	0.48221	0.1843:0.8157:0.0:0.0	.	833	Q68CZ2	TENS3_HUMAN	K	833;943;833;593;289;936	ENSP00000312143:R833K;ENSP00000381854:R833K;ENSP00000347968:R593K;ENSP00000414358:R936K	ENSP00000312143:R833K	R	-	2	0	TNS3	47351115	1.000000	0.71417	0.970000	0.41538	0.166000	0.22503	2.031000	0.41117	2.664000	0.90586	0.563000	0.77884	AGA	TNS3	-	NULL		0.483	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	C	NM_022748		47384590	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	0.844	T	T	47384590	C	T	47384590	3	4	100	1	0	0	0	0	1	0	0	0	16374	913	32	1	1891	1	TNS3	7	47384590	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	27190745	47384590	111754073	77	14518										
C7orf65	401335	genome.wustl.edu	37	chr7	47698599	47698599	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaagcagggagctgctatttCtgttcaaggcaatcagtgag	13	7	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:47698599C>G	ENST00000408988.2	+	3	264	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	77										endometrium(1)|lung(2)	3						GCTGCTATTTCTGTTCAAGGC	0.512																																																	0													82	77	78					7																	47698599		1568	3582	5150	SO:0001583	missense	401335				CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.229C>G	7.37:g.47698599C>G	ENSP00000386198:p.Leu77Val		A4D2F8	Missense_Mutation	SNP	NULL	p.L77V	ENST00000408988.2	37	c.229	CCDS43580.1	7	.	.	.	.	.	.	.	.	.	.	C	5.407	0.260293	0.10239	.	.	ENSG00000221845	ENST00000408988	.	.	.	1.32	0.405	0.16361	.	.	.	.	.	T	0.27313	0.0670	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	D	0.68621	0.959	T	0.11518	-1.0584	8	0.87932	D	0	.	3.517	0.07728	0.0:0.733:0.0:0.267	.	77	Q6ZTY9	CG065_HUMAN	V	77	.	ENSP00000386198:L77V	L	+	1	2	C7orf65	47665124	0.001000	0.12720	0.009000	0.14445	0.112000	0.19704	0.120000	0.15647	0.119000	0.18210	0.561000	0.74099	CTG	C7orf65	-	NULL		0.512	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf65	HGNC	protein_coding	OTTHUMT00000340616.1	C	NM_001123065		47698599	1	no_errors	ENST00000408988	ensembl	human	putative	70_37	missense	SNP	0.012	G	G	47698599	C	G	47698599	3	3	100	1	0	0	0	0	1	0	0	0	2416	912	32	1	239	1	C7orf65	7	47698599	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	314009	47698599	111440064	78	14519										
CUX1	1523	genome.wustl.edu	37	chr7	101813778	101813778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cttaagggaacagctctcatCggccaatcactccctccagc	7	16	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:101813778C>T	ENST00000292535.7	+	10	814	c.776C>T	c.(775-777)tCg>tTg	p.S259L	CUX1_ENST00000549414.2_Missense_Mutation_p.S259L|CUX1_ENST00000393824.3_Missense_Mutation_p.S233L|CUX1_ENST00000437600.4_Missense_Mutation_p.S270L|CUX1_ENST00000360264.3_Missense_Mutation_p.S270L|CUX1_ENST00000547394.2_Missense_Mutation_p.S254L|CUX1_ENST00000425244.2_Missense_Mutation_p.S224L|CUX1_ENST00000556210.1_Missense_Mutation_p.S259L|CUX1_ENST00000292538.4_Missense_Mutation_p.S270L|CUX1_ENST00000550008.2_Missense_Mutation_p.S259L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.S259L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	259					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCTCTCATCGGCCAATCAC	0.587																																																	0													42	33	36					7																	101813778		2203	4299	6502	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.776C>T	7.37:g.101813778C>T	ENSP00000292535:p.Ser259Leu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.S270L	ENST00000292535.7	37	c.809	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900523	0.52227	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.41400	1.13;1.13;1.13;2.4;1.0;1.13;1.13;1.13;1.13;1.13	5.81	5.81	0.92471	.	0.147404	0.47455	D	0.000230	T	0.40546	0.1121	L	0.39397	1.21	0.49582	D	0.999805	B;B;B;B;B;B;B	0.21309	0.04;0.032;0.038;0.023;0.054;0.018;0.054	B;B;B;B;B;B;B	0.14023	0.004;0.004;0.005;0.006;0.007;0.003;0.01	T	0.19128	-1.0315	10	0.72032	D	0.01	-15.8167	20.0826	0.97783	0.0:1.0:0.0:0.0	.	233;259;224;254;270;270;270	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	L	270;254;270;224;270;259;259;259;259;259	ENSP00000292538:S270L;ENSP00000449371:S254L;ENSP00000353401:S270L;ENSP00000409745:S224L;ENSP00000414091:S270L;ENSP00000292535:S259L;ENSP00000446630:S259L;ENSP00000447373:S259L;ENSP00000450125:S259L;ENSP00000451558:S259L	ENSP00000292535:S259L	S	+	2	0	CUX1	101600498	1.000000	0.71417	0.802000	0.32245	0.826000	0.46750	5.290000	0.65661	2.746000	0.94184	0.655000	0.94253	TCG	CUX1	-	NULL		0.587	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101813778	1	no_errors	ENST00000360264	ensembl	human	known	70_37	missense	SNP	0.876	T	T	101813778	C	T	101813778	3	4	100	1	0	0	0	0	1	0	0	0	4069	893	31	1	881	1	CUX1	7	101813778	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	54115179	101813778	57324885	79	14520										
MLL5	55904	genome.wustl.edu	37	chr7	104753289	104753289	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atcaccatccaccaccccatCcatccacaggactccaaggt	4	19	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:104753289C>G	ENST00000311117.3	+	27	5631	c.5086C>G	c.(5086-5088)Cca>Gca	p.P1696A	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1654A|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1696A	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1696	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACCACCCCATCCATCCACAGG	0.587																																																	0													94	90	91					7																	104753289		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5086C>G	7.37:g.104753289C>G	ENSP00000312379:p.Pro1696Ala		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.P1696A	ENST00000311117.3	37	c.5086	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	0.788	-0.759820	0.03019	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91237	-2.81;-2.57;-2.81	3.39	1.31	0.21738	.	0.000000	0.38959	U	0.001514	T	0.76695	0.4023	N	0.14661	0.345	0.80722	D	1	B;P	0.38767	0.02;0.646	B;B	0.30105	0.013;0.111	T	0.73007	-0.4118	10	0.66056	D	0.02	.	6.8836	0.24187	0.0:0.5747:0.3274:0.0979	.	1616;1696	F8W6H1;Q8IZD2	.;MLL5_HUMAN	A	1696;1654;1616;1696	ENSP00000312379:P1696A;ENSP00000335599:P1654A;ENSP00000257745:P1696A	ENSP00000257745:P1696A	P	+	1	0	MLL5	104540525	1.000000	0.71417	0.971000	0.41717	0.706000	0.40770	1.626000	0.37039	0.560000	0.29169	-0.394000	0.06481	CCA	MLL5	-	NULL		0.587	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753289	1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	0.901	G	G	104753289	C	G	104753289	3	3	100	1	0	0	0	0	1	0	0	0	9647	855	30	1	5184	1	MLL5	7	104753289	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	2939511	104753289	54385374	80	14521										
ZNF800	168850	genome.wustl.edu	37	chr7	127014255	127014255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agttatcttgtggacaatttGcatatgtcttttaagcatta	7	5	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:127014255G>C	ENST00000393313.1	-	5	1726	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	ZNF800_ENST00000393312.1_Missense_Mutation_p.Q379E|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.Q379E			Q2TB10	ZN800_HUMAN	zinc finger protein 800	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGGACAATTTGCATATGTCTT	0.333																																																	0													95	102	99					7																	127014255		2203	4297	6500	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1135C>G	7.37:g.127014255G>C	ENSP00000376989:p.Gln379Glu		Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q379E	ENST00000393313.1	37	c.1135	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033281	0.19590	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.28069	1.63;1.63;1.63	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.064498	0.64402	D	0.000004	T	0.20659	0.0497	N	0.08118	0	0.26455	N	0.975532	B;B	0.29988	0.264;0.264	B;B	0.34385	0.181;0.181	T	0.17349	-1.0372	8	.	.	.	-3.2326	18.7799	0.91928	0.0:0.0:1.0:0.0	.	282;379	B7Z4V7;Q2TB10	.;ZN800_HUMAN	E	379	ENSP00000376989:Q379E;ENSP00000265827:Q379E;ENSP00000376988:Q379E	.	Q	-	1	0	ZNF800	126801491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.641000	0.61375	2.685000	0.91497	0.650000	0.86243	CAA	ZNF800	-	smart_Znf_C2H2-like		0.333	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	G	NM_176814		127014255	-1	no_errors	ENST00000265827	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127014255	G	C	127014255	3	2	100	1	0	0	0	0	1	0	0	0	18199	1328	46	4	867	4	ZNF800	7	127014255	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	22260966	127014255	32124408	81	14522										
TEX15	56154	genome.wustl.edu	37	chr8	30700365	30700365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aatatacatttcaatagcttCaggctttaaaatgatagcct	5	7	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr8:30700365C>T	ENST00000256246.2	-	1	6243	c.6169G>A	c.(6169-6171)Gaa>Aaa	p.E2057K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2057					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCAATAGCTTCAGGCTTTAAA	0.333																																																	0													33	35	34					8																	30700365		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6169G>A	8.37:g.30700365C>T	ENSP00000256246:p.Glu2057Lys			Missense_Mutation	SNP	NULL	p.E2057K	ENST00000256246.2	37	c.6169	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117384	0.37339	.	.	ENSG00000133863	ENST00000256246	T	0.14022	2.54	5.33	5.33	0.75918	.	0.591298	0.15827	N	0.242717	T	0.22166	0.0534	N	0.24115	0.695	0.37082	D	0.899022	D	0.57257	0.979	P	0.56563	0.801	T	0.08371	-1.0725	10	0.87932	D	0	.	18.1452	0.89652	0.0:1.0:0.0:0.0	.	2057	Q9BXT5	TEX15_HUMAN	K	2057	ENSP00000256246:E2057K	ENSP00000256246:E2057K	E	-	1	0	TEX15	30819907	1.000000	0.71417	0.960000	0.40013	0.359000	0.29487	3.370000	0.52372	2.661000	0.90470	0.585000	0.79938	GAA	TEX15	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700365	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30700365	C	T	30700365	3	4	100	1	0	0	0	0	1	0	0	0	15809	835	29	1	2216	1	TEX15	8	30700365	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		30700365	115663657	82	14523										
TAF2	6873	genome.wustl.edu	37	chr8	120831654	120831654	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aaagcagcctctaaatcattGatccttactcggtatattct	5	10	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr8:120831654G>C	ENST00000378164.2	-	3	529	c.231C>G	c.(229-231)atC>atG	p.I77M		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	77					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAATCATTGATCCTTACTC	0.343																																																	0													162	169	167					8																	120831654		2202	4299	6501	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.231C>G	8.37:g.120831654G>C	ENSP00000367406:p.Ile77Met		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.I77M	ENST00000378164.2	37	c.231	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842413	0.51057	.	.	ENSG00000064313	ENST00000378164	T	0.04862	3.54	5.82	5.82	0.92795	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.178715	0.48286	D	0.000187	T	0.09291	0.0229	L	0.43923	1.385	0.40557	D	0.981179	B	0.29432	0.244	B	0.32805	0.153	T	0.06356	-1.0831	10	0.72032	D	0.01	-17.8956	15.5827	0.76459	0.0:0.137:0.863:0.0	.	77	Q6P1X5	TAF2_HUMAN	M	77	ENSP00000367406:I77M	ENSP00000367406:I77M	I	-	3	3	TAF2	120900835	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.750000	0.38329	2.765000	0.95021	0.650000	0.86243	ATC	TAF2	-	pfam_Peptidase_M1_N		0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	G	NM_003184		120831654	-1	no_errors	ENST00000378164	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120831654	G	C	120831654	3	2	100	1	0	0	0	0	1	0	0	0	15554	1280	45	1	3464	1	TAF2	8	120831654	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	90131289	120831654	25532368	83	14524										
DOCK8	81704	genome.wustl.edu	37	chr9	405010	405010	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	catgagcattacctcaatctGaaccttttttttatgaatgc	5	9	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:405010G>A	ENST00000453981.1	+	27	3439	c.3327G>A	c.(3325-3327)ctG>ctA	p.L1109L	DOCK8_ENST00000469391.1_Silent_p.L1009L|DOCK8_ENST00000432829.2_Silent_p.L1041L|DOCK8_ENST00000382331.1_Silent_p.L411L|DOCK8_ENST00000382329.1_Silent_p.L576L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1109					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTCAATCTGAACCTTTTTT	0.398																																																	0													132	114	120					9																	405010		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3327G>A	9.37:g.405010G>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L1109	ENST00000453981.1	37	c.3327	CCDS6440.2	9																																																																																			DOCK8	-	NULL		0.398	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		405010	1	no_errors	ENST00000453981	ensembl	human	known	70_37	silent	SNP	1.000	A	A	405010	G	A	405010	2	1	100	1	0	0	0	0	0	0	0	1	4703	1277	45	1		1	DOCK8	9	405010	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		405010	140808421	84	14525										
RFX3	5991	genome.wustl.edu	37	chr9	3275593	3275593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atttcaacttctccaaactcTggaagtgctcgagatgcatc	7	11	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:3275593T>C	ENST00000382004.3	-	10	1304	c.993A>G	c.(991-993)ccA>ccG	p.P331P	RFX3_ENST00000358730.2_Silent_p.P331P|RFX3_ENST00000302303.1_Silent_p.P331P	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	331					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCAAACTCTGGAAGTGCTC	0.413																																																	0													103	96	99					9																	3275593		2203	4300	6503	SO:0001819	synonymous_variant	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.993A>G	9.37:g.3275593T>C			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P331	ENST00000382004.3	37	c.993	CCDS6449.1	9																																																																																			RFX3	-	NULL		0.413	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	T	NM_002919		3275593	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	silent	SNP	1.000	C	C	3275593	T	C	3275593	2	2	100	1	0	0	0	0	0	0	0	1	13294	1567	55	5		5	RFX3	9	3275593	Silent	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	2870583	3275593	137937838	85	14526										
ZNF169	169841	genome.wustl.edu	37	chr9	97062305	97062305	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cccgacagctcattaagaaaGaggccaagcagaatttctag	9	10	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:97062305G>C	ENST00000395395.2	+	5	555	c.465G>C	c.(463-465)aaG>aaC	p.K155N	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CATTAAGAAAGAGGCCAAGCA	0.498																																																	0													49	48	48					9																	97062305		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.465G>C	9.37:g.97062305G>C	ENSP00000378792:p.Lys155Asn		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K155N	ENST00000395395.2	37	c.465	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	3.487	-0.104572	0.06967	.	.	ENSG00000175787	ENST00000395395	T	0.06849	3.25	2.59	-0.6	0.11642	.	.	.	.	.	T	0.04907	0.0132	N	0.24115	0.695	0.09310	N	1	B	0.23377	0.084	B	0.25759	0.063	T	0.42068	-0.9473	9	0.48119	T	0.1	.	1.2149	0.01912	0.1416:0.2224:0.4088:0.2272	.	155	Q14929	ZN169_HUMAN	N	155	ENSP00000378792:K155N	ENSP00000378792:K155N	K	+	3	2	ZNF169	96102126	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.147000	0.03188	-0.118000	0.11851	0.505000	0.49811	AAG	ZNF169	-	NULL		0.498	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	G	NM_194320		97062305	1	no_errors	ENST00000395395	ensembl	human	known	70_37	missense	SNP	0.000	C	C	97062305	G	C	97062305	3	2	100	1	0	0	0	0	1	0	0	0	17772	933	33	1	479	1	ZNF169	9	97062305	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	93786712	97062305	44151126	86	14527										
C9orf84	158401	genome.wustl.edu	37	chr9	114508574	114508574	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tacgtaatgaattcactgaaGaatgttggcatgttaggaat	10	4	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:114508574G>C	ENST00000318737.4	-	8	955	c.827C>G	c.(826-828)tCt>tGt	p.S276C	C9orf84_ENST00000394779.3_Missense_Mutation_p.S237C|C9orf84_ENST00000374283.5_Missense_Mutation_p.S340C|C9orf84_ENST00000374287.3_Missense_Mutation_p.S276C|C9orf84_ENST00000394777.4_Missense_Mutation_p.S237C	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	276										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTCACTGAAGAATGTTGGCA	0.318																																																	0													130	129	130					9																	114508574		2203	4300	6503	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.827C>G	9.37:g.114508574G>C	ENSP00000322108:p.Ser276Cys		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.S276C	ENST00000318737.4	37	c.827	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331486	0.41297	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.45	2.61	0.31194	.	0.173187	0.27951	N	0.017187	T	0.42471	0.1204	L	0.34521	1.04	0.09310	N	1	P;D;D;D	0.69078	0.895;0.992;0.997;0.975	P;P;P;P	0.57720	0.606;0.826;0.81;0.717	T	0.19224	-1.0312	10	0.72032	D	0.01	0.0428	6.637	0.22889	0.2173:0.0:0.7827:0.0	.	237;340;276;237	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	C	237;237;276;276;340	ENSP00000378259:S237C;ENSP00000378257:S237C;ENSP00000363405:S276C;ENSP00000322108:S276C;ENSP00000363401:S340C	ENSP00000322108:S276C	S	-	2	0	C9orf84	113548395	0.720000	0.27996	0.048000	0.18961	0.006000	0.05464	3.039000	0.49791	0.506000	0.28125	0.467000	0.42956	TCT	C9orf84	-	NULL		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	G	NM_173521		114508574	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	missense	SNP	0.006	C	C	114508574	G	C	114508574	3	2	100	1	0	0	0	0	1	0	0	0	2505	942	33	1	3583	1	C9orf84	9	114508574	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	17446269	114508574	26704857	87	14528										
GTPBP4	23560	genome.wustl.edu	37	chr10	1061781	1061781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcccccgtcctctgtggcccGgagtgggagttgctctcgaa	13	14	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:1061781G>A	ENST00000360803.4	+	16	1779	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	GTPBP4_ENST00000538293.1_Missense_Mutation_p.R450Q|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R519Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	566					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCTGTGGCCCGGAGTGGGAGT	0.522																																																	0													159	144	149					10																	1061781		2203	4300	6503	SO:0001583	missense	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1697G>A	10.37:g.1061781G>A	ENSP00000354040:p.Arg566Gln		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.R566Q	ENST00000360803.4	37	c.1697	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407270	0.62399	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37752	1.18;1.26;1.2	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.76328	2.33	0.80722	D	1	P	0.45634	0.863	B	0.36092	0.217	T	0.52411	-0.8579	10	0.66056	D	0.02	-17.2106	19.7591	0.96306	0.0:0.0:1.0:0.0	.	566	Q9BZE4	NOG1_HUMAN	Q	566;450;519	ENSP00000354040:R566Q;ENSP00000444277:R450Q;ENSP00000445473:R519Q	ENSP00000354040:R566Q	R	+	2	0	GTPBP4	1051781	1.000000	0.71417	0.964000	0.40570	0.175000	0.22909	5.118000	0.64673	2.671000	0.90904	0.591000	0.81541	CGG	GTPBP4	-	NULL		0.522	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	G	NM_012341		1061781	1	no_errors	ENST00000360803	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1061781	G	A	1061781	3	1	100	1	0	0	0	0	1	0	0	0	6902	1116	39	2	1759	2	GTPBP4	10	1061781	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		1061781	134472966	88	14529										
MCM10	55388	genome.wustl.edu	37	chr10	13217641	13217641	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaagttctggggaaacgactCaacccatctgtgtggaagcc	12	10	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:13217641C>G	ENST00000484800.2	+	6	830	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	MCM10_ENST00000378714.3_Missense_Mutation_p.Q242E|MCM10_ENST00000378694.1_Missense_Mutation_p.Q242E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	243	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAAACGACTCAACCCATCTG	0.527																																																	0													137	135	136					10																	13217641		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.727C>G	10.37:g.13217641C>G	ENSP00000418268:p.Gln243Glu		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.Q243E	ENST00000484800.2	37	c.727	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	9.116	1.007838	0.19199	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.13901	2.56;2.56;2.55	5.24	4.31	0.51392	.	1.020430	0.07770	N	0.951509	T	0.20414	0.0491	M	0.79805	2.47	0.09310	N	1	B;B;B	0.31625	0.116;0.332;0.224	B;B;B	0.36289	0.036;0.221;0.11	T	0.50101	-0.8867	10	0.05620	T	0.96	-15.5131	10.1906	0.43024	0.1534:0.6988:0.1478:0.0	.	242;242;243	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	E	242;243;243;242	ENSP00000367986:Q242E;ENSP00000418268:Q243E;ENSP00000367966:Q242E	ENSP00000354945:Q243E	Q	+	1	0	MCM10	13257647	0.009000	0.17119	0.004000	0.12327	0.020000	0.10135	1.150000	0.31639	1.288000	0.44600	0.655000	0.94253	CAA	MCM10	-	NULL		0.527	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	C	NM_182751		13217641	1	no_errors	ENST00000361282	ensembl	human	known	70_37	missense	SNP	0.005	G	G	13217641	C	G	13217641	3	3	100	1	0	0	0	0	1	0	0	0	9408	827	29	1	745	1	MCM10	10	13217641	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	12155860	13217641	122317106	89	14530										
C10orf140	387640	genome.wustl.edu	37	chr10	21805509	21805509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctcctcctctccctcctcctCctcttcctctgaggacacag	4	21	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:21805509C>T	ENST00000449193.2	-	4	3495	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.E336K	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	334						nucleus (GO:0005634)											ccctcctcctcctcttcctcT	0.622																																																	0													5	6	6					10																	21805509		1939	3999	5938	SO:0001583	missense	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1243G>A	10.37:g.21805509C>T	ENSP00000410041:p.Glu415Lys		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E415K	ENST00000449193.2	37	c.1243	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019133	0.54576	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	4.85	4.85	0.62838	.	0.198914	0.29783	U	0.011217	T	0.53286	0.1787	L	0.32530	0.975	0.50039	D	0.999841	P	0.39665	0.682	B	0.42798	0.398	T	0.57118	-0.7866	9	0.49607	T	0.09	-23.991	16.7211	0.85410	0.0:1.0:0.0:0.0	.	415	E9PAX1	.	K	415;336	.	ENSP00000442432:E336K	E	-	1	0	C10orf140	21845515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.148000	0.64857	2.253000	0.74438	0.555000	0.69702	GAG	SKIDA1	-	NULL		0.622	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	C	NM_207371		21805509	-1	no_errors	ENST00000449193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21805509	C	T	21805509	3	4	100	1	0	0	0	0	1	0	0	0	1599	864	30	1	1487	1	C10orf140	10	21805509	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8587868	21805509	113729238	90	14531										
NRP1	8829	genome.wustl.edu	37	chr10	33545393	33545393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cacagtaacgcccaatgtgaGggccaactggaaagggagga	14	9	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:33545393G>T	ENST00000265371.4	-	6	1190	c.665C>A	c.(664-666)cCt>cAt	p.P222H	NRP1_ENST00000395995.1_Missense_Mutation_p.P222H|NRP1_ENST00000374867.2_Missense_Mutation_p.P222H|NRP1_ENST00000374822.4_Missense_Mutation_p.P222H|NRP1_ENST00000374816.3_Missense_Mutation_p.P222H|NRP1_ENST00000374821.5_Missense_Mutation_p.P222H|NRP1_ENST00000374823.5_Missense_Mutation_p.P222H|NRP1_ENST00000432372.2_Missense_Mutation_p.P222H|NRP1_ENST00000374875.1_Missense_Mutation_p.P41H			O14786	NRP1_HUMAN	neuropilin 1	222	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCAATGTGAGGGCCAACTGG	0.478																																					Melanoma(104;886 1489 44640 45944 51153)												0													82	69	74					10																	33545393		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.665C>A	10.37:g.33545393G>T	ENSP00000265371:p.Pro222His		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.P222H	ENST00000265371.4	37	c.665	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881125	0.91740	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	T;T;T;T;T;T;T;T	0.32515	1.45;2.16;1.45;1.45;1.45;1.45;1.45;1.45	5.85	5.85	0.93711	CUB (5);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.987;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.947;1.0;1.0;1.0;1.0;1.0	T	0.64050	-0.6498	10	0.87932	D	0	-16.4619	20.1731	0.98165	0.0:0.0:1.0:0.0	.	222;222;222;222;222;222;222;41;222	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	H	222;41;222;222;222;222;222;222;41	ENSP00000265371:P222H;ENSP00000364009:P41H;ENSP00000364001:P222H;ENSP00000379317:P222H;ENSP00000363955:P222H;ENSP00000363954:P222H;ENSP00000363956:P222H;ENSP00000363949:P222H	ENSP00000265371:P222H	P	-	2	0	NRP1	33585399	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.830000	0.99415	2.768000	0.95171	0.655000	0.94253	CCT	NRP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB		0.478	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	G			33545393	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33545393	G	T	33545393	3	4	100	1	0	0	0	0	1	0	0	0	10684	1000	35	4	2169	4	NRP1	10	33545393	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	11739884	33545393	101989354	91	14532										
PRAP1	118471	genome.wustl.edu	37	chr10	135165620	135165620	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccgaggagaagccacgaggtCagggcaggggccccatcctt	15	13	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:135165620C>G	ENST00000433452.2	+	4	510	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	PRAP1_ENST00000458230.1_Intron|ZNF511_ENST00000368554.4_Missense_Mutation_p.Q239E|PRAP1_ENST00000423766.1_Missense_Mutation_p.Q81E|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000463201.1_Intron			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	80						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GCCACGAGGTCAGGGCAGGGG	0.622																																																	0													68	69	69					10																	135165620		2203	4300	6503	SO:0001583	missense	118472			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.238C>G	10.37:g.135165620C>G	ENSP00000416126:p.Gln80Glu		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.Q239E	ENST00000433452.2	37	c.715	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	c	6.074	0.381971	0.11524	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766	T;T;T	0.31510	1.49;1.5;1.5	3.0	-1.64	0.08318	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.12837	0.005;0.008	T	0.26538	-1.0100	9	0.30854	T	0.27	0.0084	7.5954	0.28046	0.1766:0.3031:0.5203:0.0	.	81;80	Q96NZ9-3;Q96NZ9	.;PRAP1_HUMAN	E	239;80;81	ENSP00000357542:Q239E;ENSP00000416126:Q80E;ENSP00000409495:Q81E	ENSP00000409495:Q81E	Q	+	1	0	ZNF511;PRAP1	135015610	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	-0.883000	0.04170	-0.334000	0.08463	0.651000	0.88453	CAG	ZNF511	-	NULL		0.622	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	C	NM_145202		135165620	1	no_errors	ENST00000368554	ensembl	human	known	70_37	missense	SNP	0.001	G	G	135165620	C	G	135165620	3	3	100	1	0	0	0	0	1	0	0	0	12468	827	29	1	252	1	PRAP1	10	135165620	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	101620227	135165620	369127	92	14533										
AP2A2	161	genome.wustl.edu	37	chr11	959489	959489	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aacaaggaactggcaaatatCagatcaaaatttaaaggtaa	7	5	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:959489C>G	ENST00000448903.2	+	2	261	c.120C>G	c.(118-120)atC>atG	p.I40M	AP2A2_ENST00000332231.5_Missense_Mutation_p.I40M|AP2A2_ENST00000534328.1_Missense_Mutation_p.I40M	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	40	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAATATCAGATCAAAAT	0.269																																																	0													82	78	79					11																	959489		1797	4062	5859	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.120C>G	11.37:g.959489C>G	ENSP00000413234:p.Ile40Met		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.I40M	ENST00000448903.2	37	c.120	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746959	0.49257	.	.	ENSG00000183020	ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310;ENST00000531548;ENST00000534485;ENST00000527024	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.74	0.776	0.18532	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.192413	0.43579	D	0.000553	T	0.72692	0.3492	H	0.95151	3.63	0.44643	D	0.997622	D;D	0.71674	0.998;0.997	D;D	0.83275	0.993;0.996	T	0.74247	-0.3727	10	0.87932	D	0	-15.6023	8.3093	0.32062	0.0:0.3871:0.0:0.6129	.	40;40	O94973-2;O94973	.;AP2A2_HUMAN	M	40;40;40;40;40;40;40;46;30;34	ENSP00000436059:I40M;ENSP00000413234:I40M;ENSP00000327694:I40M;ENSP00000433498:I46M;ENSP00000435756:I30M;ENSP00000434563:I34M	ENSP00000327694:I40M	I	+	3	3	AP2A2	949489	0.609000	0.26975	0.991000	0.47740	0.936000	0.57629	-0.276000	0.08514	0.303000	0.22785	-0.312000	0.09012	ATC	AP2A2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.269	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	C	NM_012305		959489	1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	0.995	G	G	959489	C	G	959489	3	3	100	1	0	0	0	0	1	0	0	0	740	816	29	1	126	1	AP2A2	11	959489	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		959489	134047027	93	14534										
CTSD	1509	genome.wustl.edu	37	chr11	1774826	1774826	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aagacgtcgcccaggatccaGagtggcccgctgggtggcgg	17	12	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:1774826G>C	ENST00000236671.2	-	9	1278	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	382					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCAGGATCCAGAGTGGCCCGC	0.647																																																	0													53	55	54					11																	1774826		2202	4299	6501	SO:0001819	synonymous_variant	1509			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1146C>G	11.37:g.1774826G>C			Q6IB57	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.L382	ENST00000236671.2	37	c.1146	CCDS7725.1	11																																																																																			CTSD	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.647	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	G	NM_001909		1774826	-1	no_errors	ENST00000236671	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1774826	G	C	1774826	2	2	100	1	0	0	0	0	0	0	0	1	4037	929	33	1		1	CTSD	11	1774826	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	815337	1774826	133231690	94	14535										
ARFIP2	23647	genome.wustl.edu	37	chr11	6498387	6498387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tttctcagctcctggaggccGcagcttgatgttgaactgct	11	11	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:6498387G>A	ENST00000254584.2	-	8	1065	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	ARFIP2_ENST00000396777.3_Missense_Mutation_p.R328W|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R290W|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R243W|TRIM3_ENST00000525074.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	328					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGGAGGCCGCAGCTTGATG	0.577																																					Melanoma(119;796 1674 9049 20480 24794)												0													50	42	45					11																	6498387		2201	4296	6497	SO:0001583	missense	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.982C>T	11.37:g.6498387G>A	ENSP00000254584:p.Arg328Trp		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.R328W	ENST00000254584.2	37	c.982	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048312	0.55110	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.78246	-1.14;-1.14;-1.16;-1.14	5.03	4.1	0.47936	.	0.183020	0.46145	D	0.000320	T	0.79822	0.4512	L	0.40543	1.245	0.49389	D	0.999788	D;D;D	0.71674	0.998;0.997;0.978	P;P;P	0.59424	0.857;0.757;0.644	T	0.80913	-0.1170	10	0.87932	D	0	.	11.284	0.49212	0.0:0.0:0.5455:0.4545	.	361;243;328	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	W	328;328;243;290	ENSP00000254584:R328W;ENSP00000379998:R328W;ENSP00000391427:R243W;ENSP00000398375:R290W	ENSP00000254584:R328W	R	-	1	2	ARFIP2	6454963	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.807000	0.69157	1.091000	0.41335	0.467000	0.42956	CGG	ARFIP2	-	NULL		0.577	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	G	NM_012402		6498387	-1	no_errors	ENST00000254584	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6498387	G	A	6498387	3	1	100	1	0	0	0	0	1	0	0	0	855	1086	38	2	47	2	ARFIP2	11	6498387	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	4723561	6498387	128508129	95	14536										
USP47	55031	genome.wustl.edu	37	chr11	11962085	11962085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaaagctgaaggattttttaGaagtaacaaggtatgtcatt	10	3	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:11962085G>C	ENST00000399455.2	+	20	2483	c.2363G>C	c.(2362-2364)aGa>aCa	p.R788T	USP47_ENST00000527733.1_Missense_Mutation_p.R768T|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.R700T	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	788					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGATTTTTTAGAAGTAACAAG	0.373																																																	0													85	82	83					11																	11962085		1821	4073	5894	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2363G>C	11.37:g.11962085G>C	ENSP00000382382:p.Arg788Thr		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R788T	ENST00000399455.2	37	c.2363		11	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615948	0.87359	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.05199	3.49;3.48;3.48	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56035	0.974;0.94;0.94	P;B;P	0.49799	0.537;0.418;0.622	T	0.33471	-0.9867	10	0.23302	T	0.38	.	19.3107	0.94186	0.0:0.0:1.0:0.0	.	788;768;700	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	T	700;768;788	ENSP00000339957:R700T;ENSP00000433146:R768T;ENSP00000382382:R788T	ENSP00000339957:R700T	R	+	2	0	USP47	11918661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.294000	0.96088	2.658000	0.90341	0.655000	0.94253	AGA	USP47	-	NULL		0.373	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	G	NM_017944		11962085	1	no_errors	ENST00000399455	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11962085	G	C	11962085	3	2	100	1	0	0	0	0	1	0	0	0	17109	942	33	1	2169	1	USP47	11	11962085	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	5463698	11962085	123044431	96	14537										
AHNAK	79026	genome.wustl.edu	37	chr11	62289474	62289474	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcccttcatctttggaccttTcagattcaggtcaacttcag	7	12	6	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:62289474T>G	ENST00000378024.4	-	5	12689	c.12415A>C	c.(12415-12417)Aaa>Caa	p.K4139Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4139					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGACCTTTCAGATTCAGG	0.517																																																	0													108	107	107					11																	62289474		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12415A>C	11.37:g.62289474T>G	ENSP00000367263:p.Lys4139Gln		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K4139Q	ENST00000378024.4	37	c.12415	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	t	10.16	1.273116	0.23221	.	.	ENSG00000124942	ENST00000378024	T	0.01629	4.72	4.1	2.93	0.34026	.	0.119785	0.53938	D	0.000048	T	0.09730	0.0239	M	0.90425	3.115	0.36053	D	0.840912	D	0.71674	0.998	D	0.81914	0.995	T	0.35375	-0.9791	10	0.15952	T	0.53	.	9.2613	0.37614	0.0:0.0901:0.0:0.9099	.	4139	Q09666	AHNK_HUMAN	Q	4139	ENSP00000367263:K4139Q	ENSP00000367263:K4139Q	K	-	1	0	AHNAK	62046050	0.974000	0.33945	0.003000	0.11579	0.017000	0.09413	4.097000	0.57741	0.438000	0.26450	0.323000	0.21402	AAA	AHNAK	-	NULL		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	T	NM_024060		62289474	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.920	G	G	62289474	T	G	62289474	3	3	100	1	0	0	0	0	1	0	0	0	414	1792	62	5	5377	5	AHNAK	11	62289474	Missense_Mutation	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	50327389	62289474	72717042	97	14538										
TUT1	64852	genome.wustl.edu	37	chr11	62348654	62348654	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	catcgaagctatttatggaaGagccaaaagggtggaccaca	11	8	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:62348654G>C	ENST00000476907.1	-	4	1305	c.614C>G	c.(613-615)tCt>tGt	p.S205C	TUT1_ENST00000308436.7_Missense_Mutation_p.S243C|MIR3654_ENST00000496634.2_Missense_Mutation_p.S205C			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	205					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATTTATGGAAGAGCCAAAAGG	0.527																																																	0													107	99	102					11																	62348654		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.614C>G	11.37:g.62348654G>C	ENSP00000419607:p.Ser205Cys		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S243C	ENST00000476907.1	37	c.728		11	.	.	.	.	.	.	.	.	.	.	G	32	5.116993	0.94385	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	D;D;D	0.85861	-2.04;-2.04;-2.04	5.5	5.5	0.81552	.	0.110306	0.64402	D	0.000005	D	0.92609	0.7652	M	0.81614	2.55	0.44129	D	0.996914	D	0.89917	1.0	D	0.91635	0.999	D	0.93341	0.6710	10	0.87932	D	0	-16.7575	16.9396	0.86213	0.0:0.0:1.0:0.0	.	243	F5H0R1	.	C	243;205;119	ENSP00000308000:S243C;ENSP00000419607:S205C;ENSP00000420739:S119C	ENSP00000441670:S205C	S	-	2	0	TUT1	62105230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.978000	0.93450	2.576000	0.86940	0.555000	0.69702	TCT	TUT1	-	NULL		0.527	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	G	NM_022830		62348654	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62348654	G	C	62348654	3	2	100	1	0	0	0	0	1	0	0	0	16811	942	33	1	2034	1	TUT1	11	62348654	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	59180	62348654	72657862	98	14539										
C11orf84	144097	genome.wustl.edu	37	chr11	63586438	63586438	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccaaagacagggaagtggcaGaaggaggccttccccgggcg	16	11	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:63586438G>A	ENST00000294244.4	+	5	1197	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	300										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GGAAGTGGCAGAAGGAGGCCT	0.667																																																	0													41	44	43					11																	63586438		2200	4298	6498	SO:0001583	missense	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.898G>A	11.37:g.63586438G>A	ENSP00000294244:p.Glu300Lys		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.E300K	ENST00000294244.4	37	c.898	CCDS31594.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.662473|1.662473	0.29515|0.29515	.|.	.|.	ENSG00000168005|ENSG00000168005	ENST00000294244;ENST00000540893|ENST00000535820	T|.	0.52057|.	0.68|.	3.74|3.74	1.82|1.82	0.25136|0.25136	.|.	1.130820|.	0.06480|.	N|.	0.732674|.	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B|.	0.26195|.	0.144|.	B|.	0.25291|.	0.059|.	T|T	0.25222|0.25222	-1.0138|-1.0138	10|5	0.87932|.	D|.	0|.	0.1144|0.1144	6.1134|6.1134	0.20114|0.20114	0.2451:0.0:0.7549:0.0|0.2451:0.0:0.7549:0.0	.|.	300|.	Q9BUA3|.	CK084_HUMAN|.	K|K	300;75|7	ENSP00000294244:E300K|.	ENSP00000294244:E300K|.	E|R	+|+	1|2	0|0	C11orf84|C11orf84	63343014|63343014	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.633000|0.633000	0.24598|0.24598	0.197000|0.197000	0.20387|0.20387	0.561000|0.561000	0.74099|0.74099	GAA|AGA	C11orf84	-	NULL		0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	G	NM_138471		63586438	1	no_errors	ENST00000294244	ensembl	human	known	70_37	missense	SNP	0.000	A	A	63586438	G	A	63586438	3	1	100	1	0	0	0	0	1	0	0	0	1671	943	33	1	916	1	C11orf84	11	63586438	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1237784	63586438	71420078	99	14540										
SF1	7536	genome.wustl.edu	37	chr11	64535724	64535724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	caaatattctttatccatccGtgctttatcctgagctgact	5	11	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:64535724G>A	ENST00000377390.3	-	9	1259	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	SF1_ENST00000227503.9_Missense_Mutation_p.R308W|SF1_ENST00000334944.5_Missense_Mutation_p.R308W|SF1_ENST00000422298.2_Missense_Mutation_p.R193W|SF1_ENST00000377394.3_Missense_Mutation_p.R308W|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R433W|SF1_ENST00000433274.2_Missense_Mutation_p.R282W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	308					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTATCCATCCGTGCTTTATCC	0.532											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													92	78	83					11																	64535724		2201	4297	6498	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.922C>T	11.37:g.64535724G>A	ENSP00000366607:p.Arg308Trp	1077	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R308W	ENST00000377390.3	37	c.922	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166608	0.78339	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T	0.50001	0.77;0.77;0.78;0.82;0.76;0.78;0.76;0.76	5.41	4.48	0.54585	.	0.223472	0.38381	N	0.001706	T	0.58977	0.2160	L	0.47716	1.5	0.53688	D	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;P;D;D	0.70016	0.841;0.944;0.951;0.895;0.951;0.967	T	0.60722	-0.7207	10	0.66056	D	0.02	.	11.0835	0.48074	0.0:0.0:0.6634:0.3365	.	193;308;308;308;308;433	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	W	433;308;308;308;308;193;282;29	ENSP00000366604:R433W;ENSP00000366607:R308W;ENSP00000227503:R308W;ENSP00000366611:R308W;ENSP00000334414:R308W;ENSP00000413084:R193W;ENSP00000396793:R282W;ENSP00000419062:R29W	ENSP00000227503:R308W	R	-	1	2	SF1	64292300	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	7.084000	0.76866	1.244000	0.43870	0.561000	0.74099	CGG	SF1	-	NULL		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	G	NM_004630		64535724	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	missense	SNP	0.990	A	A	64535724	G	A	64535724	3	1	100	1	0	0	0	0	1	0	0	0	14175	1144	40	2	1155	2	SF1	11	64535724	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	949286	64535724	70470792	100	14541										
KDM2A	22992	genome.wustl.edu	37	chr11	66975046	66975046	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcattgaaatgaccatggctCagtggacacgctactatgag	11	9	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:66975046C>T	ENST00000529006.2	+	6	819	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	KDM2A_ENST00000398645.2_Nonsense_Mutation_p.Q125*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	125					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GACCATGGCTCAGTGGACACG	0.498																																																	0													67	71	70					11																	66975046		2038	4204	6242	SO:0001587	stop_gained	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.373C>T	11.37:g.66975046C>T	ENSP00000432786:p.Gln125*		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Nonsense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q125*	ENST00000529006.2	37	c.373	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.794596	0.99696	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.7518	18.0888	0.89468	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000381640:Q125X	Q	+	1	0	KDM2A	66731622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.503000	0.84419	0.591000	0.81541	CAG	KDM2A	-	NULL		0.498	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	C	NM_012308		66975046	1	no_errors	ENST00000529006	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	66975046	C	T	66975046	4	4	100	1	0	0	0	0	0	1	0	0	8144	827	29	1	391	1	KDM2A	11	66975046	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	2439322	66975046	68031470	101	14542										
PDE2A	5138	genome.wustl.edu	37	chr11	72301026	72301026	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcccgggtctcctgctgcagCtgagagagggacaggcaggg	18	11	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:72301026C>A	ENST00000334456.5	-	10	1002		c.e10-1		PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Splice_Site|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCTGCTGCAGCTGAGAGAGGG	0.672											OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	17	17					11																	72301026		2196	4290	6486	SO:0001630	splice_region_variant	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.757-1G>T	11.37:g.72301026C>A		1136	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Splice_Site	SNP	-	e10-1	ENST00000334456.5	37	c.757-1	CCDS8216.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.566288|3.566288	0.65651|0.65651	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807|ENST00000538299	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71195	.|0.3311	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70241	.|-0.4926	.|4	.|.	.|.	.|.	.|.	15.2813|15.2813	0.73787|0.73787	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|14	.|.	.|.	.|A	-|-	.|1	.|0	PDE2A|PDE2A	71978674|71978674	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.726000|0.726000	0.41606|0.41606	6.420000|6.420000	0.73349|0.73349	2.375000|2.375000	0.81037|0.81037	0.591000|0.591000	0.81541|0.81541	.|GCT	PDE2A	-	-		0.672	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	C	NM_002599	Intron	72301026	-1	no_errors	ENST00000334456	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	72301026	C	A	72301026	5	1	100	1	0	0	0	0	0	0	1	0	11660	811	28	4	2157	4	PDE2A	11	72301026	Splice_Site	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	5325980	72301026	62705490	102	14543										
MTMR2	8898	genome.wustl.edu	37	chr11	95598789	95598789	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtctttaatattttctcctgGaagcaagggtggttcttcca	9	8	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:95598789G>C	ENST00000346299.5	-	3	578	c.238C>G	c.(238-240)Cca>Gca	p.P80A	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.P8A|MTMR2_ENST00000393223.3_Missense_Mutation_p.P8A|MTMR2_ENST00000409459.1_Missense_Mutation_p.P8A	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	80	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTCTCCTGGAAGCAAGGGT	0.403																																																	0													128	122	124					11																	95598789		2201	4298	6499	SO:0001583	missense	8898			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.238C>G	11.37:g.95598789G>C	ENSP00000345752:p.Pro80Ala		A6NN98|Q9UPS9	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.P80A	ENST00000346299.5	37	c.238	CCDS8305.1	11	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483621	0.63962	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.76	5.76	0.90799	GRAM (2);	0.102507	0.64402	D	0.000002	D	0.83811	0.5335	L	0.56124	1.755	0.80722	D	1	B;B	0.16396	0.017;0.016	B;B	0.17098	0.012;0.017	T	0.77963	-0.2390	10	0.36615	T	0.2	.	19.568	0.95403	0.0:0.0:1.0:0.0	.	80;80	A8K5G2;Q13614	.;MTMR2_HUMAN	A	80;8;8;8;8;63	ENSP00000345752:P80A;ENSP00000376915:P8A;ENSP00000386882:P8A;ENSP00000343737:P8A;ENSP00000396020:P8A	ENSP00000345752:P80A	P	-	1	0	MTMR2	95238437	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.887000	0.87295	2.706000	0.92434	0.591000	0.81541	CCA	MTMR2	-	pfam_GRAM,smart_GRAM		0.403	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1	G	NM_016156		95598789	-1	no_errors	ENST00000346299	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95598789	G	C	95598789	3	2	100	1	0	0	0	0	1	0	0	0	9967	1174	41	1	1745	1	MTMR2	11	95598789	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	23297763	95598789	39407727	103	14544										
DRD2	1813	genome.wustl.edu	37	chr11	113283564	113283564	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcgggtgggctggtgctggaGagcatctccatctccagctc	14	12	2	1	rs4986921	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:113283564G>C	ENST00000362072.3	-	7	1196	c.852C>G	c.(850-852)ctC>ctG	p.L284L	DRD2_ENST00000538967.1_Silent_p.L286L|DRD2_ENST00000542968.1_Silent_p.L284L|DRD2_ENST00000535984.1_5'Flank|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.L255L|DRD2_ENST00000355319.2_Silent_p.L286L|DRD2_ENST00000544518.1_Silent_p.L283L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	284	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGTGCTGGAGAGCATCTCCA	0.667																																																	0													34	34	34					11																	113283564		2201	4295	6496	SO:0001819	synonymous_variant	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.852C>G	11.37:g.113283564G>C			Q9NZR3|Q9UPA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L286	ENST00000362072.3	37	c.858	CCDS8361.1	11																																																																																			DRD2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt		0.667	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	G	NM_000795		113283564	-1	no_errors	ENST00000355319	ensembl	human	known	70_37	silent	SNP	0.978	C	C	113283564	G	C	113283564	2	2	100	1	0	0	0	0	0	0	0	1	4767	929	33	1		1	DRD2	11	113283564	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	17684775	113283564	21722952	104	14545										
OR8B3	390271	genome.wustl.edu	37	chr11	124267083	124267083	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aaatagtacattggtgtgtgGaggtgagaatttagaccgaa	13	3	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:124267083G>C	ENST00000354597.3	-	1	181	c.165C>G	c.(163-165)ctC>ctG	p.L55L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTGGTGTGTGGAGGTGAGAAT	0.403																																																	0													130	133	132					11																	124267083		2201	4299	6500	SO:0001819	synonymous_variant	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.165C>G	11.37:g.124267083G>C			Q6IFQ8|Q8NGH1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L55	ENST00000354597.3	37	c.165	CCDS31709.1	11																																																																																			OR8B3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	HGNC	protein_coding	OTTHUMT00000387291.1	G	NM_001005467		124267083	-1	no_errors	ENST00000354597	ensembl	human	known	70_37	silent	SNP	0.892	C	C	124267083	G	C	124267083	2	2	100	1	0	0	0	0	0	0	0	1	11252	1161	41	1		1	OR8B3	11	124267083	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	10983519	124267083	10739433	105	14546										
IGSF9B	22997	genome.wustl.edu	37	chr11	133807325	133807325	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cccctgaatgctgtacgctcGgcaggtgtaggcacctctgt	12	13	1	1	rs566589696		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:133807325G>A	ENST00000321016.8	-	5	855	c.625C>T	c.(625-627)Cga>Tga	p.R209*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.R209*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	209	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTACGCTCGGCAGGTGTAG	0.622													G|||	1	0.000199681	0	0	5008	,	,		17929	0		0.001	False		,,,				2504	0																0													81	92	88					11																	133807325		2122	4216	6338	SO:0001587	stop_gained	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.625C>T	11.37:g.133807325G>A	ENSP00000317980:p.Arg209*		G5EA26	Nonsense_Mutation	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.R209*	ENST00000321016.8	37	c.625		11	.	.	.	.	.	.	.	.	.	.	G	38	7.252448	0.98164	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.4704	0.94961	0.0:0.0:1.0:0.0	.	.	.	.	X	209;51;209;199	.	ENSP00000317980:R209X	R	-	1	2	IGSF9B	133312535	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.261000	0.78400	2.597000	0.87782	0.561000	0.74099	CGA	IGSF9B	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.622	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133807325	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	133807325	G	A	133807325	4	1	100	1	0	0	0	0	0	1	0	0	7626	1124	39	2	3484	2	IGSF9B	11	133807325	Nonsense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	9540242	133807325	1199191	106	14547										
CCDC77	84318	genome.wustl.edu	37	chr12	547595	547595	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aagagaagtcatggatgcttGaaaaagataatttgatgtca	10	3	2	4	rs565946457		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:547595G>A	ENST00000239830.4	+	10	1095	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC77_ENST00000540180.1_Missense_Mutation_p.E274K|CCDC77_ENST00000412006.2_Missense_Mutation_p.E274K|CCDC77_ENST00000422000.1_Missense_Mutation_p.E274K	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	306						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGGATGCTTGAAAAAGATAA	0.373													g|||	1	0.000199681	0	0	5008	,	,		19694	0		0.001	False		,,,				2504	0																0													110	111	111					12																	547595		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.916G>A	12.37:g.547595G>A	ENSP00000239830:p.Glu306Lys		B4DDE8	Missense_Mutation	SNP	NULL	p.E306K	ENST00000239830.4	37	c.916	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	g	34	5.295386	0.95574	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70824	-0.4767	10	0.45353	T	0.12	-23.1668	18.7532	0.91823	0.0:0.0:1.0:0.0	.	306	Q9BR77	CCD77_HUMAN	K	274;274;274;306;274	ENSP00000440554:E274K;ENSP00000391870:E274K;ENSP00000445873:E274K;ENSP00000239830:E306K;ENSP00000412925:E274K	ENSP00000239830:E306K	E	+	1	0	CCDC77	417856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.203000	0.95033	2.503000	0.84419	0.556000	0.70494	GAA	CCDC77	-	NULL		0.373	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		547595	1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	1.000	A	A	547595	G	A	547595	3	1	100	1	0	0	0	0	1	0	0	0	2856	1291	45	1	946	1	CCDC77	12	547595	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		547595	133304300	107	14548										
CHD4	1108	genome.wustl.edu	37	chr12	6690291	6690291	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctcctctccctcagggggttCaacaacgaccttttcatcct	6	16	4	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:6690291C>T	ENST00000357008.2	-	33	4991	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	CHD4_ENST00000544484.1_Missense_Mutation_p.E1635K|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.E1638K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1603K|CHD4_ENST00000540960.1_5'Flank|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1610	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCAGGGGGTTCAACAACGACC	0.478																																					Colon(32;586 792 4568 16848 45314)												0													201	210	207					12																	6690291		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4828G>A	12.37:g.6690291C>T	ENSP00000349508:p.Glu1610Lys		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1638K	ENST00000357008.2	37	c.4912	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	8.175	0.792445	0.16258	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91351	-2.83;-2.81;-2.82;-2.8	5.46	5.46	0.80206	.	0.555812	0.19207	N	0.120028	D	0.86916	0.6048	L	0.51422	1.61	0.09310	N	1	B;B;B	0.15473	0.013;0.008;0.013	B;B;B	0.19391	0.025;0.011;0.025	T	0.72636	-0.4233	10	0.21014	T	0.42	.	12.0128	0.53297	0.0:0.9117:0.0:0.0883	.	1638;1610;1603	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1635;1603;1638;1610;1584	ENSP00000440392:E1635K;ENSP00000440542:E1603K;ENSP00000312419:E1638K;ENSP00000349508:E1610K	ENSP00000312419:E1638K	E	-	1	0	CHD4	6560552	0.871000	0.30034	0.035000	0.18076	0.068000	0.16541	4.409000	0.59768	2.720000	0.93068	0.655000	0.94253	GAA	CHD4	-	NULL		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6690291	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	0.124	T	T	6690291	C	T	6690291	3	4	100	1	0	0	0	0	1	0	0	0	3332	835	29	1	942	1	CHD4	12	6690291	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	6142696	6690291	127161604	108	14549										
C12orf59	120939	genome.wustl.edu	37	chr12	10339184	10339184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agcactctccagagcactatCacatgtgagtacactgaact	7	12	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:10339184C>G	ENST00000381923.2	+	5	707	c.303C>G	c.(301-303)atC>atG	p.I101M	TMEM52B_ENST00000536952.1_Missense_Mutation_p.I101M|TMEM52B_ENST00000298530.3_Missense_Mutation_p.I81M			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	101						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGAGCACTATCACATGTGAGT	0.488																																																	0													77	72	74					12																	10339184		2203	4300	6503	SO:0001583	missense	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.303C>G	12.37:g.10339184C>G	ENSP00000371348:p.Ile101Met		Q96NA7	Missense_Mutation	SNP	NULL	p.I101M	ENST00000381923.2	37	c.303		12	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125832	0.56721	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.37584	1.19;1.19;1.19	5.21	3.31	0.37934	.	0.230857	0.37304	N	0.002155	T	0.30792	0.0776	L	0.59436	1.845	0.37517	D	0.917391	P;B	0.35348	0.496;0.229	B;B	0.35278	0.199;0.075	T	0.26643	-1.0097	10	0.72032	D	0.01	-11.5935	4.6892	0.12772	0.0:0.625:0.182:0.1929	.	101;81	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	M	101;81;101	ENSP00000371348:I101M;ENSP00000298530:I81M;ENSP00000446102:I101M	ENSP00000298530:I81M	I	+	3	3	C12orf59	10230451	0.481000	0.25941	0.357000	0.25798	0.848000	0.48234	-0.705000	0.05052	0.705000	0.31890	0.650000	0.86243	ATC	TMEM52B	-	NULL		0.488	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	C	NM_153022		10339184	1	no_errors	ENST00000381923	ensembl	human	known	70_37	missense	SNP	0.971	G	G	10339184	C	G	10339184	3	3	100	1	0	0	0	0	1	0	0	0	1706	816	29	1	253	1	C12orf59	12	10339184	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	3648893	10339184	123512711	109	14550										
TAS2R7	50837	genome.wustl.edu	37	chr12	10954406	10954406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctggcataaagtagctggagGtggcaatgagaaaggacaaa	14	5	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:10954406G>T	ENST00000240687.2	-	1	820	c.764C>A	c.(763-765)aCc>aAc	p.T255N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	255					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTAGCTGGAGGTGGCAATGAG	0.458																																																	0													90	94	93					12																	10954406		2203	4300	6503	SO:0001583	missense	50837			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.764C>A	12.37:g.10954406G>T	ENSP00000240687:p.Thr255Asn		Q645Y1	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.T255N	ENST00000240687.2	37	c.764	CCDS8631.1	12	.	.	.	.	.	.	.	.	.	.	G	5.292	0.239202	0.10023	.	.	ENSG00000121377	ENST00000240687	T	0.00808	5.67	5.23	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	N	0.001222	T	0.01254	0.0041	L	0.41415	1.275	0.09310	N	1	B	0.24043	0.096	B	0.33960	0.173	T	0.42224	-0.9464	10	0.56958	D	0.05	.	7.4001	0.26958	0.2643:0.0:0.7357:0.0	.	255	Q9NYW3	TA2R7_HUMAN	N	255	ENSP00000240687:T255N	ENSP00000240687:T255N	T	-	2	0	TAS2R7	10845673	0.565000	0.26610	0.982000	0.44146	0.001000	0.01503	1.371000	0.34250	1.429000	0.47314	-0.145000	0.13849	ACC	TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	G			10954406	-1	no_errors	ENST00000240687	ensembl	human	known	70_37	missense	SNP	0.133	T	T	10954406	G	T	10954406	3	4	100	1	0	0	0	0	1	0	0	0	15616	1261	44	4	196	4	TAS2R7	12	10954406	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	615222	10954406	122897489	110	14551										
RACGAP1	29127	genome.wustl.edu	37	chr12	50410481	50410481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcaaacagattccgcacattCagcatcatagtatccatctt	4	12	4	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:50410481C>T	ENST00000427314.2	-	4	241	c.18G>A	c.(16-18)ctG>ctA	p.L6L	RACGAP1_ENST00000551016.1_Silent_p.L6L|RACGAP1_ENST00000454520.2_Silent_p.L6L|RACGAP1_ENST00000312377.5_Silent_p.L6L|RACGAP1_ENST00000547905.1_Silent_p.L6L|RACGAP1_ENST00000434422.1_Silent_p.L6L	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCGCACATTCAGCATCATAG	0.458																																																	0													130	139	136					12																	50410481		2203	4300	6503	SO:0001819	synonymous_variant	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.18G>A	12.37:g.50410481C>T				Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L6	ENST00000427314.2	37	c.18	CCDS8795.1	12																																																																																			RACGAP1	-	NULL		0.458	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	C	NM_013277		50410481	-1	no_errors	ENST00000312377	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50410481	C	T	50410481	2	4	100	1	0	0	0	0	0	0	0	1	13007	813	29	1		1	RACGAP1	12	50410481	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	39456075	50410481	83441414	111	14552										
SCN8A	6334	genome.wustl.edu	37	chr12	52200842	52200842	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcaccaagcgggtcctgggaGatagcggggagttggacatc	16	9	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:52200842G>A	ENST00000354534.6	+	27	5750	c.5572G>A	c.(5572-5574)Gat>Aat	p.D1858N	AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.D1817N|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1858					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGTCCTGGGAGATAGCGGGGA	0.547																																																	0													96	104	101					12																	52200842		2116	4245	6361	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5572G>A	12.37:g.52200842G>A	ENSP00000346534:p.Asp1858Asn		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D1858N	ENST00000354534.6	37	c.5572	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100770	0.76983	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.95949	-3.86;-3.81	4.91	4.91	0.64330	.	0.042476	0.85682	D	0.000000	D	0.93874	0.8040	L	0.31752	0.955	0.80722	D	1	P	0.51351	0.944	P	0.48304	0.573	D	0.94768	0.7942	10	0.87932	D	0	.	18.6609	0.91471	0.0:0.0:1.0:0.0	.	1858	Q9UQD0	SCN8A_HUMAN	N	1858;1817	ENSP00000346534:D1858N;ENSP00000440360:D1817N	ENSP00000346534:D1858N	D	+	1	0	SCN8A	50487109	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	9.657000	0.98554	2.724000	0.93272	0.561000	0.74099	GAT	SCN8A	-	NULL		0.547	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52200842	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52200842	G	A	52200842	3	1	100	1	0	0	0	0	1	0	0	0	13954	942	33	1	5674	1	SCN8A	12	52200842	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1790361	52200842	81651053	112	14553										
DGKA	1606	genome.wustl.edu	37	chr12	56347184	56347184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cggagaaccctggatgcagaCgccctgtacagtgagtattg	13	10	0	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:56347184C>T	ENST00000331886.5	+	23	2568	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.T705M|DGKA_ENST00000551156.1_Missense_Mutation_p.T705M	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	705					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGATGCAGACGCCCTGTACA	0.468																																																	0													217	214	215					12																	56347184		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2114C>T	12.37:g.56347184C>T	ENSP00000328405:p.Thr705Met		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.T705M	ENST00000331886.5	37	c.2114	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288784	0.59976	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	T;T;T	0.47528	0.84;0.84;0.84	4.71	4.71	0.59529	.	0.320719	0.32608	N	0.005861	T	0.33352	0.0860	N	0.12182	0.205	0.37550	D	0.918661	B	0.12630	0.006	B	0.14578	0.011	T	0.30327	-0.9982	10	0.59425	D	0.04	.	16.8197	0.85742	0.0:1.0:0.0:0.0	.	705	P23743	DGKA_HUMAN	M	705	ENSP00000328405:T705M;ENSP00000377703:T705M;ENSP00000450359:T705M	ENSP00000328405:T705M	T	+	2	0	DGKA	54633451	1.000000	0.71417	0.865000	0.33974	0.934000	0.57294	7.380000	0.79704	2.312000	0.78011	0.561000	0.74099	ACG	DGKA	-	NULL		0.468	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	C			56347184	1	no_errors	ENST00000331886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56347184	C	T	56347184	3	4	100	1	0	0	0	0	1	0	0	0	4475	536	19	2	2200	2	DGKA	12	56347184	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	4146342	56347184	77504711	113	14554										
PTPRB	5787	genome.wustl.edu	37	chr12	70964988	70964988	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggatctcatattggtcgacaTccccattagctcctgaccaa	7	13	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:70964988T>G	ENST00000261266.5	-	11	2563	c.2534A>C	c.(2533-2535)gAt>gCt	p.D845A	PTPRB_ENST00000551525.1_Missense_Mutation_p.D1062A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D845A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D975A|PTPRB_ENST00000334414.6_Missense_Mutation_p.D1063A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D755A|PTPRB_ENST00000550857.1_Missense_Mutation_p.D755A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	845	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGGTCGACATCCCCATTAGC	0.443																																																	0													96	91	93					12																	70964988		1996	4174	6170	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2534A>C	12.37:g.70964988T>G	ENSP00000261266:p.Asp845Ala		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D1063A	ENST00000261266.5	37	c.3188	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989730	0.74589	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.64404	1.975	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;0.999;0.854;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;0.929;1.0;1.0;1.0	T	0.62651	-0.6809	10	0.07325	T	0.83	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	755;845;942;1062;1063;845;975	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	A	1063;755;975;845;755;845;1062;942	ENSP00000334928:D1063A;ENSP00000393028:D755A;ENSP00000448058:D975A;ENSP00000438927:D845A;ENSP00000447302:D755A;ENSP00000261266:D845A;ENSP00000448349:D1062A;ENSP00000446982:D942A	ENSP00000261266:D845A	D	-	2	0	PTPRB	69251255	1.000000	0.71417	0.931000	0.37212	0.717000	0.41224	7.665000	0.83852	2.251000	0.74343	0.528000	0.53228	GAT	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	T			70964988	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	0.999	G	G	70964988	T	G	70964988	3	3	100	1	0	0	0	0	1	0	0	0	12826	1435	50	5	3547	5	PTPRB	12	70964988	Missense_Mutation	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	14617804	70964988	62886907	114	14555										
ZFC3H1	196441	genome.wustl.edu	37	chr12	72038798	72038798	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccattttttactggctgactGaagagccaaaaggcgaagct	10	9	0	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:72038798G>A	ENST00000378743.3	-	4	1496	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	380					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGGCTGACTGAAGAGCCAAA	0.333																																																	0													100	87	91					12																	72038798		1825	4087	5912	SO:0001587	stop_gained	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1138C>T	12.37:g.72038798G>A	ENSP00000368017:p.Gln380*		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.Q380*	ENST00000378743.3	37	c.1138	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.417400	0.97550	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.5809	0.95467	0.0:0.0:1.0:0.0	.	.	.	.	X	380	.	ENSP00000368017:Q380X	Q	-	1	0	ZFC3H1	70325065	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.519000	0.90563	2.629000	0.89072	0.650000	0.86243	CAG	ZFC3H1	-	NULL		0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72038798	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	72038798	G	A	72038798	4	1	100	1	0	0	0	0	0	1	0	0	17663	1299	45	1	4959	1	ZFC3H1	12	72038798	Nonsense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1073810	72038798	61813097	115	14556										
C12orf64	283310	genome.wustl.edu	37	chr12	80661098	80661098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agagctcatccccacaccctCgggcttatggtaggtttcaa	9	13	2	1	rs199855270	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:80661098C>T	ENST00000547103.1	+	21	2435	c.2429C>T	c.(2428-2430)tCg>tTg	p.S810L	OTOGL_ENST00000458043.2_Missense_Mutation_p.S810L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	810					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCCACACCCTCGGGCTTATGG	0.333																																																	0								C	LEU/SER	1,3663		0,1,1831	63	60	61		2429	2.6	0.8	12		61	15,8171		0,15,4078	yes	missense	OTOGL	NM_173591.3	145	0,16,5909	TT,TC,CC		0.1832,0.0273,0.135		810/2345	80661098	16,11834	1832	4093	5925	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2429C>T	12.37:g.80661098C>T	ENSP00000447211:p.Ser810Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S810L	ENST00000547103.1	37	c.2429		12	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226222	0.22542	2.73E-4	0.001832	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.16597	2.33;2.33	5.37	2.59	0.31030	.	.	.	.	.	T	0.11922	0.0290	N	0.20401	0.57	0.27674	N	0.946653	.	.	.	.	.	.	T	0.31971	-0.9924	7	0.23891	T	0.37	.	9.284	0.37746	0.0:0.7791:0.0:0.2209	.	.	.	.	L	810	ENSP00000447211:S810L;ENSP00000400895:S810L	ENSP00000400895:S810L	S	+	2	0	OTOGL	79185229	0.996000	0.38824	0.754000	0.31244	0.699000	0.40488	1.905000	0.39878	0.356000	0.24157	-0.781000	0.03364	TCG	OTOGL	-	smart_VWC_out		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80661098	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.850	T	T	80661098	C	T	80661098	3	4	100	1	0	0	0	0	1	0	0	0	1711	893	31	1	2511	1	C12orf64	12	80661098	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8622300	80661098	53190797	116	14557										
ANKS1B	56899	genome.wustl.edu	37	chr12	99166870	99166870	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtggtgattagacttcaaatCttttgtgatataggcaaatg	10	4	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:99166870C>G	ENST00000547776.2	-	24	3453	c.3454G>C	c.(3454-3456)Gat>Cat	p.D1152H	ANKS1B_ENST00000549025.2_Missense_Mutation_p.D250H|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D1152H|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D668H|ANKS1B_ENST00000332712.7_Missense_Mutation_p.D342H|ANKS1B_ENST00000341752.7_Missense_Mutation_p.D158H|ANKS1B_ENST00000333732.7_Missense_Mutation_p.D182H|ANKS1B_ENST00000549493.2_Missense_Mutation_p.D402H|ANKS1B_ENST00000549558.2_Missense_Mutation_p.D318H|ANKS1B_ENST00000550693.2_Missense_Mutation_p.D342H|ANKS1B_ENST00000547446.1_Missense_Mutation_p.D287H|ANKS1B_ENST00000546568.1_Missense_Mutation_p.D318H|ANKS1B_ENST00000546960.1_Missense_Mutation_p.D378H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1152	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GACTTCAAATCTTTTGTGATA	0.423																																																	0													107	110	109					12																	99166870		1905	4128	6033	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3454G>C	12.37:g.99166870C>G	ENSP00000449629:p.Asp1152His		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D1152H	ENST00000547776.2	37	c.3454	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.032441|5.032441	0.93575|0.93575	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960|ENST00000550778	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.18960|0.17691	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18|2.26	5.66|5.66	5.66|5.66	0.87406|0.87406	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.44138|0.44138	0.1279|0.1279	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.991;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.958;0.999;0.999;1.0|.	T|T	0.26608|0.26608	-1.0098|-1.0098	10|6	0.87932|.	D|.	0|.	-13.4037|-13.4037	19.7423|19.7423	0.96237|0.96237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;182;182;378;342;292;366;318;402;250;668;1152;318|.	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	H|N	158;318;1152;668;1152;667;342;250;402;287;182;318;342;243;378|423	ENSP00000345510:D158H;ENSP00000448993:D318H;ENSP00000449629:D1152H;ENSP00000448512:D668H;ENSP00000331381:D1152H;ENSP00000447999:D342H;ENSP00000447312:D250H;ENSP00000448203:D402H;ENSP00000450015:D287H;ENSP00000331256:D182H;ENSP00000448205:D318H;ENSP00000332683:D342H;ENSP00000447839:D378H|ENSP00000448744:K423N	ENSP00000331381:D1152H|.	D|K	-|-	1|3	0|2	ANKS1B|ANKS1B	97691001|97691001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.814000|7.814000	0.86154|0.86154	2.676000|2.676000	0.91093|0.91093	0.555000|0.555000	0.69702|0.69702	GAT|AAG	ANKS1B	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	C	NM_020140		99166870	-1	no_errors	ENST00000329257	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99166870	C	G	99166870	3	3	100	1	0	0	0	0	1	0	0	0	689	913	32	1	419	1	ANKS1B	12	99166870	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	18505772	99166870	34685025	117	14558										
HPD	3242	genome.wustl.edu	37	chr12	122277702	122277702	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccgcaggttctgctcctcctCgaaagccttgaacagtgagt	10	13	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:122277702C>G	ENST00000289004.4	-	14	1149	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	HPD_ENST00000543163.1_Missense_Mutation_p.E333Q	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	372					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGCTCCTCCTCGAAAGCCTTG	0.597																																																	0													83	81	82					12																	122277702		2203	4300	6503	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.1114G>C	12.37:g.122277702C>G	ENSP00000289004:p.Glu372Gln		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.E372Q	ENST00000289004.4	37	c.1114	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448206	0.84101	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.79845	-1.03;-1.31	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91067	0.4890	10	0.87932	D	0	-34.731	19.3143	0.94206	0.0:1.0:0.0:0.0	.	372	P32754	HPPD_HUMAN	Q	372;369;333	ENSP00000289004:E372Q;ENSP00000441677:E333Q	ENSP00000289004:E372Q	E	-	1	0	HPD	120762085	1.000000	0.71417	0.981000	0.43875	0.490000	0.33462	5.439000	0.66556	2.570000	0.86706	0.462000	0.41574	GAG	HPD	-	pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	C	NM_002150		122277702	-1	no_errors	ENST00000289004	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122277702	C	G	122277702	3	3	100	1	0	0	0	0	1	0	0	0	7352	893	31	1	71	1	HPD	12	122277702	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	23110832	122277702	11574193	118	14559										
NBEA	26960	genome.wustl.edu	37	chr13	36220484	36220484	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcggagctctgccatgcaccTggtaagacatatcagcatgt	10	11	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr13:36220484T>C	ENST00000400445.3	+	50	8240	c.7706T>C	c.(7705-7707)cTg>cCg	p.L2569P	NBEA_ENST00000379922.3_Splice_Site_p.L147P|NBEA_ENST00000379939.2_Splice_Site_p.L2566P|NBEA_ENST00000537702.1_Splice_Site_p.L362P|NBEA_ENST00000540320.1_Splice_Site_p.L2569P|NBEA_ENST00000310336.4_Splice_Site_p.L2569P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2569					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATGCACCTGGTAAGACAT	0.428																																																	0													80	74	76					13																	36220484		1996	4167	6163	SO:0001630	splice_region_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7707+1T>C	13.37:g.36220484T>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L2569P	ENST00000400445.3	37	c.7706	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938806	0.73557	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.59906	0.54;0.54;0.54;0.54;0.37;0.23	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000005	T	0.59362	0.2188	L	0.43923	1.385	0.80722	D	1	B;P;B	0.39094	0.259;0.659;0.04	B;P;B	0.45998	0.053;0.5;0.029	T	0.62492	-0.6843	10	0.56958	D	0.05	.	15.4408	0.75181	0.0:0.0:0.0:1.0	.	2569;147;2566	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	P	2569;2569;2566;2569;1196;147;362;147	ENSP00000440951:L2569P;ENSP00000383295:L2569P;ENSP00000369271:L2566P;ENSP00000308534:L2569P;ENSP00000440233:L362P;ENSP00000369254:L147P	ENSP00000308534:L2569P	L	+	2	0	NBEA	35118484	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.907000	0.87430	2.109000	0.64355	0.460000	0.39030	CTG	NBEA	-	NULL		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		T	NM_015678	Missense_Mutation	36220484	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36220484	T	C	36220484	5	2	100	1	0	0	0	0	0	0	1	0	10210	1594	55	5	7904	5	NBEA	13	36220484	Splice_Site	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09		36220484	78949394	119	14560										
KCTD4	386618	genome.wustl.edu	37	chr13	45768493	45768493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	taatgaccatcagcatcaaaCgggcagaggatttttccatt	8	9	2	2	rs371658910		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr13:45768493C>T	ENST00000379108.1	-	1	359	c.210G>A	c.(208-210)ccG>ccA	p.P70P	KCTD4_ENST00000405872.1_Silent_p.P70P|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	70	BTB.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		CAGCATCAAACGGGCAGAGGA	0.413																																																	0								C	,	0,4406		0,0,2203	190	193	192		,210	-4.7	0.9	13		192	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	GTF2F2,KCTD4	NM_004128.2,NM_198404.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,70/260	45768493	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	386618			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 4"				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.210G>A	13.37:g.45768493C>T			Q5W0P9	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.P70	ENST00000379108.1	37	c.210	CCDS9396.1	13																																																																																			KCTD4	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.413	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD4	HGNC	protein_coding	OTTHUMT00000044757.1	C			45768493	-1	no_errors	ENST00000379108	ensembl	human	known	70_37	silent	SNP	0.831	T	T	45768493	C	T	45768493	2	4	100	1	0	0	0	0	0	0	0	1	8131	523	19	2		2	KCTD4	13	45768493	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	9548009	45768493	69401385	120	14561										
CHD8	57680	genome.wustl.edu	37	chr14	21899634	21899634	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgctgatgaattccccacatCaccacctccaccatcctggt	5	17	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:21899634C>T	ENST00000557364.1	-	2	432	c.169G>A	c.(169-171)Gat>Aat	p.D57N	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.D57N|CHD8_ENST00000430710.3_Intron|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	57					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCCCACATCACCACCTCCA	0.522																																																	0													131	116	121					14																	21899634		692	1591	2283	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.169G>A	14.37:g.21899634C>T	ENSP00000451601:p.Asp57Asn		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D57N	ENST00000557364.1	37	c.169	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931535	0.34096	.	.	ENSG00000100888	ENST00000399982;ENST00000557364;ENST00000553622	D;D	0.89485	-2.52;-2.52	4.64	1.74	0.24563	.	.	.	.	.	T	0.78078	0.4227	N	0.19112	0.55	0.28608	N	0.9088	.	.	.	.	.	.	T	0.64253	-0.6451	7	0.13470	T	0.59	.	7.3571	0.26725	0.0:0.701:0.1385:0.1605	.	.	.	.	N	57;57;32	ENSP00000382863:D57N;ENSP00000451601:D57N	ENSP00000382863:D57N	D	-	1	0	CHD8	20969474	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	0.634000	0.24614	0.258000	0.21686	-0.263000	0.10527	GAT	CHD8	-	NULL		0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21899634	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	0.989	T	T	21899634	C	T	21899634	3	4	100	1	0	0	0	0	1	0	0	0	3336	826	29	1	7724	1	CHD8	14	21899634	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		21899634	85449906	121	14562										
SEC23A	10484	genome.wustl.edu	37	chr14	39561767	39561767	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaactacatattcaatgctaGaaaactgaggtaaaagttca	7	6	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:39561767G>C	ENST00000307712.6	-	4	861	c.344C>G	c.(343-345)tCt>tGt	p.S115C	SEC23A_ENST00000536508.1_5'UTR|SEC23A_ENST00000545328.2_Intron	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	115					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTCAATGCTAGAAAACTGAGG	0.269																																																	0													30	29	29					14																	39561767		2202	4288	6490	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.344C>G	14.37:g.39561767G>C	ENSP00000306881:p.Ser115Cys		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.S115C	ENST00000307712.6	37	c.344	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087761	0.76642	.	.	ENSG00000100934	ENST00000307712;ENST00000555017;ENST00000556092	D;D;D	0.84070	-1.8;-1.8;-1.8	5.46	5.46	0.80206	Zinc finger, Sec23/Sec24-type (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.80028	2.48	0.80722	D	1	D	0.67145	0.996	P	0.57776	0.827	D	0.91086	0.4903	10	0.62326	D	0.03	-22.86	19.3005	0.94143	0.0:0.0:1.0:0.0	.	115	Q15436	SC23A_HUMAN	C	115	ENSP00000306881:S115C;ENSP00000450819:S115C;ENSP00000451230:S115C	ENSP00000306881:S115C	S	-	2	0	SEC23A	38631518	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	9.855000	0.99526	2.567000	0.86603	0.557000	0.71058	TCT	SEC23A	-	superfamily_Znf_Sec23_Sec24		0.269	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	G			39561767	-1	no_errors	ENST00000307712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39561767	G	C	39561767	3	2	100	1	0	0	0	0	1	0	0	0	14021	942	33	1	2021	1	SEC23A	14	39561767	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	17662133	39561767	67787773	122	14563										
HIF1A	3091	genome.wustl.edu	37	chr14	62188340	62188340	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtgacatgatttacatttctGataatgtgaacaaatacatg	7	5	1	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:62188340G>C	ENST00000337138.4	+	3	605	c.340G>C	c.(340-342)Gat>Cat	p.D114H	HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000539097.1_Missense_Mutation_p.D138H|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.D114H|HIF1A_ENST00000394997.1_Missense_Mutation_p.D115H|HIF1A_ENST00000557538.1_Missense_Mutation_p.D55H	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	114	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTACATTTCTGATAATGTGAA	0.318																																																	0													147	145	146					14																	62188340		2203	4298	6501	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.340G>C	14.37:g.62188340G>C	ENSP00000338018:p.Asp114His		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.D138H	ENST00000337138.4	37	c.412	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.186155	0.94885	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.93	5.93	0.95920	PAS (3);PAS fold (1);	0.044537	0.85682	D	0.000000	T	0.35941	0.0949	L	0.39326	1.205	0.80722	D	1	P;P;P	0.50272	0.933;0.933;0.933	D;D;D	0.64877	0.93;0.93;0.93	T	0.01033	-1.1474	10	0.66056	D	0.02	.	20.3396	0.98756	0.0:0.0:1.0:0.0	.	115;114;114	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	H	55;114;115;114;55;138	ENSP00000338018:D114H;ENSP00000378446:D115H;ENSP00000323326:D114H;ENSP00000451696:D55H;ENSP00000437955:D138H	ENSP00000323326:D114H	D	+	1	0	HIF1A	61258093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.812000	0.96745	0.555000	0.69702	GAT	HIF1A	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.318	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	G	NM_001530		62188340	1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62188340	G	C	62188340	3	2	100	1	0	0	0	0	1	0	0	0	7123	1290	45	1	350	1	HIF1A	14	62188340	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	22626573	62188340	45161200	123	14564										
RGS6	9628	genome.wustl.edu	37	chr14	72945011	72945011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcacagatcgacagacattgTttgaaaatgtccaaagtggc	10	8	0	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:72945011T>C	ENST00000553530.1	+	12	1035	c.828T>C	c.(826-828)tgT>tgC	p.C276C	RGS6_ENST00000434263.2_Silent_p.C207C|RGS6_ENST00000404301.2_Silent_p.C276C|RGS6_ENST00000407322.4_Silent_p.C276C|RGS6_ENST00000402788.2_Silent_p.C276C|RGS6_ENST00000355512.6_Silent_p.C276C|RGS6_ENST00000553525.1_Silent_p.C276C|RGS6_ENST00000343854.6_Silent_p.C276C|RGS6_ENST00000555571.1_Silent_p.C276C|RGS6_ENST00000406236.4_Silent_p.C276C|RGS6_ENST00000556437.1_Silent_p.C276C|RGS6_ENST00000554782.1_Silent_p.C137C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	276	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACAGACATTGTTTGAAAATGT	0.333																																					Ovarian(143;1926 2468 21071 48641)												0													125	122	123					14																	72945011		2203	4299	6502	SO:0001819	synonymous_variant	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.828T>C	14.37:g.72945011T>C			C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.C276	ENST00000553530.1	37	c.828	CCDS9808.1	14																																																																																			RGS6	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom		0.333	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	T			72945011	1	no_errors	ENST00000553525	ensembl	human	known	70_37	silent	SNP	1.000	C	C	72945011	T	C	72945011	2	2	100	1	0	0	0	0	0	0	0	1	13339	1731	60	5		5	RGS6	14	72945011	Silent	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	10756671	72945011	34404529	124	14565										
C14orf184	0	genome.wustl.edu	37	chr14	92040832	92040832	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gttcttgttccccgacaactCgtgggagtgcccgctccagc	11	15	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:92040832C>G	ENST00000596306.1	-	1	551	c.125G>C	c.(124-126)cGa>cCa	p.R42P																								CCCGACAACTCGTGGGAGTGC	0.622																																																	0													20	22	22					14																	92040832		1952	4146	6098	SO:0001583	missense	0																														ENST00000596306.1:c.125G>C	14.37:g.92040832C>G	ENSP00000472226:p.Arg42Pro			Missense_Mutation	SNP	NULL	p.R42P	ENST00000596306.1	37	c.125		14	.	.	.	.	.	.	.	.	.	.	C	3.067	-0.192044	0.06299	.	.	ENSG00000247097	ENST00000498919	.	.	.	0.82	-1.64	0.08318	.	.	.	.	.	T	0.37046	0.0989	.	.	.	.	.	.	.	.	.	.	.	.	T	0.40590	-0.9555	4	0.87932	D	0	.	3.4737	0.07577	0.5492:0.2397:0.2111:0.0	.	.	.	.	P	42	.	ENSP00000420823:R42P	R	-	2	0	AL133373.1	91110585	0.001000	0.12720	0.000000	0.03702	0.172000	0.22775	-1.157000	0.03157	-1.989000	0.00979	-0.676000	0.03789	CGA	AL133373.1	-	NULL		0.622	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268657	Clone_based_ensembl_gene	protein_coding		C			92040832	-1	no_errors	ENST00000596306	ensembl	human	known	70_37	missense	SNP	0.000	G	G	92040832	C	G	92040832	3	3	100	1	0	0	0	0	1	0	0	0	1771	884	31	1	325	1	C14orf184	14	92040832	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	19095821	92040832	15308708	125	14566										
SERPINA1	5265	genome.wustl.edu	37	chr14	94849131	94849131	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aaaaacttatccactagcttCaggccctcgctgaggaacag	8	12	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:94849131C>T	ENST00000448921.1	-	4	1016	c.444G>A	c.(442-444)ctG>ctA	p.L148L	SERPINA1_ENST00000355814.4_Silent_p.L148L|SERPINA1_ENST00000440909.1_Silent_p.L148L|SERPINA1_ENST00000437397.1_Silent_p.L148L|SERPINA1_ENST00000402629.1_Silent_p.L148L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000404814.4_Silent_p.L148L|SERPINA1_ENST00000393087.4_Silent_p.L148L|SERPINA1_ENST00000449399.3_Silent_p.L148L|SERPINA1_ENST00000393088.4_Silent_p.L148L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	148					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCACTAGCTTCAGGCCCTCGC	0.527																																																	0													77	75	76					14																	94849131		2203	4300	6503	SO:0001819	synonymous_variant	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.444G>A	14.37:g.94849131C>T			A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L148	ENST00000448921.1	37	c.444	CCDS9925.1	14																																																																																			SERPINA1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.527	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	C	NM_001002235		94849131	-1	no_errors	ENST00000355814	ensembl	human	known	70_37	silent	SNP	0.019	T	T	94849131	C	T	94849131	2	4	100	1	0	0	0	0	0	0	0	1	14116	813	29	1		1	SERPINA1	14	94849131	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	2808299	94849131	12500409	126	14567										
RYR3	6263	genome.wustl.edu	37	chr15	34131094	34131094	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgggtttgggtgacctctcaGaaattattggcaaggatgaa	13	5	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:34131094G>A	ENST00000389232.4	+	89	12983	c.12913G>A	c.(12913-12915)Gaa>Aaa	p.E4305K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4300K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4305					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGACCTCTCAGAAATTATTGG	0.443																																																	0													50	49	50					15																	34131094		1886	4103	5989	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12913G>A	15.37:g.34131094G>A	ENSP00000373884:p.Glu4305Lys		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E4305K	ENST00000389232.4	37	c.12913	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919073	0.73098	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94376	-3.41	4.42	4.42	0.53409	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	L	0.49126	1.545	0.51767	D	0.999936	B;B	0.32467	0.372;0.001	B;B	0.30855	0.121;0.012	D	0.90918	0.4781	10	0.52906	T	0.07	.	17.2107	0.86929	0.0:0.0:1.0:0.0	.	4300;4305	Q15413-2;Q15413	.;RYR3_HUMAN	K	4305;4301	ENSP00000373884:E4305K	ENSP00000354735:E4301K	E	+	1	0	RYR3	31918386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.202000	0.95026	2.298000	0.77334	0.655000	0.94253	GAA	RYR3	-	pfam_Ryanrecept_TM4-6,superfamily_ARM-type_fold		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34131094	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34131094	G	A	34131094	3	1	100	1	0	0	0	0	1	0	0	0	13800	943	33	1	13267	1	RYR3	15	34131094	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		34131094	68400298	127	14568										
ATPBD4	89978	genome.wustl.edu	37	chr15	35834625	35834625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgtacttaccttggttttcaGctggtcttagatttgctaaa	8	7	2	1	rs373612094		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:35834625G>T	ENST00000256538.4	-	2	133	c.107C>A	c.(106-108)gCt>gAt	p.A36D	DPH6_ENST00000440392.2_Missense_Mutation_p.A36D	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	36					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TTGGTTTTCAGCTGGTCTTAG	0.388																																																	0													140	130	134					15																	35834625		2201	4298	6499	SO:0001583	missense	89978				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.107C>A	15.37:g.35834625G>T	ENSP00000256538:p.Ala36Asp		B3KWG1|Q96HJ6	Missense_Mutation	SNP	pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom	p.A36D	ENST00000256538.4	37	c.107	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482185	0.26598	.	.	ENSG00000134146	ENST00000256538;ENST00000440392	T;T	0.46451	1.49;0.87	5.38	3.31	0.37934	Domain of unknown function DUF71, ATP-binding domain (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.251565	0.39146	N	0.001456	T	0.31327	0.0793	L	0.39566	1.225	0.32919	D	0.51557	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.35375	-0.9791	10	0.18710	T	0.47	-1.9506	11.3339	0.49492	0.0:0.1149:0.7219:0.1632	.	36;36	B3KWG1;Q7L8W6	.;ATBD4_HUMAN	D	36	ENSP00000256538:A36D;ENSP00000406976:A36D	ENSP00000256538:A36D	A	-	2	0	ATPBD4	33621917	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.769000	0.68865	1.293000	0.44690	0.650000	0.86243	GCT	ATPBD4	-	pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom		0.388	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPBD4	HGNC	protein_coding	OTTHUMT00000251973.1	G	NM_080650		35834625	-1	no_errors	ENST00000256538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35834625	G	T	35834625	3	4	100	1	0	0	0	0	1	0	0	0	1203	971	34	4	918	4	ATPBD4	15	35834625	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1703531	35834625	66696767	128	14569										
MYEF2	50804	genome.wustl.edu	37	chr15	48450996	48450996	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aactgcttcaattgcttgctCaaaagtgacagtgcccattc	7	11	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:48450996C>G	ENST00000324324.7	-	7	1120	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MYEF2_ENST00000267836.6_Missense_Mutation_p.E281Q|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	281	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ATTGCTTGCTCAAAAGTGACA	0.418																																																	0													257	222	234					15																	48450996		2198	4297	6495	SO:0001583	missense	50804			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.841G>C	15.37:g.48450996C>G	ENSP00000316950:p.Glu281Gln		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E281Q	ENST00000324324.7	37	c.841	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004144	0.93287	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.18960	2.18;2.18	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.138616	0.64402	D	0.000004	T	0.45175	0.1329	L	0.59912	1.85	0.80722	D	1	P;P	0.52463	0.953;0.813	P;D	0.64410	0.877;0.925	T	0.21109	-1.0255	10	0.72032	D	0.01	-16.1867	19.9991	0.97403	0.0:1.0:0.0:0.0	.	281;281	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	Q	281	ENSP00000316950:E281Q;ENSP00000267836:E281Q	ENSP00000267836:E281Q	E	-	1	0	MYEF2	46238288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.724000	0.93272	0.655000	0.94253	GAG	MYEF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.418	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	C	NM_016132		48450996	-1	no_errors	ENST00000324324	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48450996	C	G	48450996	3	3	100	1	0	0	0	0	1	0	0	0	10047	835	29	1	1005	1	MYEF2	15	48450996	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	12616371	48450996	54080396	129	14570										
WDR72	256764	genome.wustl.edu	37	chr15	54003546	54003546	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agcccacctgttcagcagctGatagatgtaactgtgaccat	9	11	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:54003546G>C	ENST00000396328.1	-	8	1083	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	WDR72_ENST00000360509.5_Missense_Mutation_p.Q282E|WDR72_ENST00000559418.1_Missense_Mutation_p.Q282E|WDR72_ENST00000557913.1_Missense_Mutation_p.Q281E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	282										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCAGCAGCTGATAGATGTAA	0.453																																																	0													114	107	109					15																	54003546		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.844C>G	15.37:g.54003546G>C	ENSP00000379619:p.Gln282Glu		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q282E	ENST00000396328.1	37	c.844	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486767	0.63962	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.15952	2.38;2.38	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.67953	2.075	0.43798	D	0.996344	D	0.69078	0.997	D	0.75020	0.985	T	0.14062	-1.0486	10	0.72032	D	0.01	.	19.2123	0.93760	0.0:0.0:1.0:0.0	.	282	Q3MJ13	WDR72_HUMAN	E	282	ENSP00000379619:Q282E;ENSP00000353699:Q282E	ENSP00000353699:Q282E	Q	-	1	0	WDR72	51790838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.602000	0.74141	2.861000	0.98227	0.650000	0.86243	CAG	WDR72	-	superfamily_WD40_repeat_dom		0.453	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	G	NM_182758		54003546	-1	no_errors	ENST00000360509	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54003546	G	C	54003546	3	2	100	1	0	0	0	0	1	0	0	0	17353	1299	45	1	2516	1	WDR72	15	54003546	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	5552550	54003546	48527846	130	14571										
HERC1	8925	genome.wustl.edu	37	chr15	64005673	64005673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	taatattaacagggcacaccGatggatcacggagttgcatg	11	8	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:64005673G>A	ENST00000443617.2	-	23	4429	c.4342C>T	c.(4342-4344)Cgg>Tgg	p.R1448W	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1448					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGCACACCGATGGATCACG	0.502																																																	0													105	103	103					15																	64005673		2085	4223	6308	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4342C>T	15.37:g.64005673G>A	ENSP00000390158:p.Arg1448Trp		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R1448W	ENST00000443617.2	37	c.4342	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270491	0.80469	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.30714	1.52	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.982	T	0.38178	-0.9673	10	0.87932	D	0	.	15.1914	0.73047	0.0:0.0:0.8504:0.1496	.	432;1448	B4DKS2;Q15751	.;HERC1_HUMAN	W	1448;432	ENSP00000390158:R1448W	ENSP00000389613:R432W	R	-	1	2	HERC1	61792726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.161000	0.77505	2.599000	0.87857	0.655000	0.94253	CGG	HERC1	-	NULL		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		64005673	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64005673	G	A	64005673	3	1	100	1	0	0	0	0	1	0	0	0	7077	1057	37	1	10467	1	HERC1	15	64005673	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	10002127	64005673	38525719	131	14572										
LBXCOR1	390598	genome.wustl.edu	37	chr15	68120303	68120303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	acggtcccgcaaactctcccGacggcggcagcccccgcccc	10	22	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:68120303G>A	ENST00000380035.2	+	2	2195	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	SKOR1_ENST00000554240.1_Missense_Mutation_p.D674N|SKOR1_ENST00000389002.1_Missense_Mutation_p.D669N|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554054.1_Missense_Mutation_p.D685N			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	713					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AAACTCTCCCGAcggcggcag	0.751																																																	0													4	6	5					15																	68120303		1906	3790	5696	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2137G>A	15.37:g.68120303G>A	ENSP00000369374:p.Asp713Asn		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.D713N	ENST00000380035.2	37	c.2137		15	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710863	0.68730	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.04	5.04	0.67666	.	0.554122	0.17644	N	0.166902	T	0.08802	0.0218	N	0.14661	0.345	0.31019	N	0.71833	P	0.34546	0.456	B	0.27608	0.081	T	0.10451	-1.0629	10	0.21540	T	0.41	-3.1633	10.5917	0.45314	0.0887:0.0:0.9113:0.0	.	669	P84550-3	.	N	674;685;713;669	ENSP00000451193:D674N;ENSP00000452361:D685N;ENSP00000369374:D713N;ENSP00000373654:D669N	ENSP00000369374:D713N	D	+	1	0	SKOR1	65907357	0.318000	0.24598	0.630000	0.29268	0.941000	0.58515	2.914000	0.48797	2.350000	0.79820	0.655000	0.94253	GAC	SKOR1	-	NULL		0.751	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	G	NM_001031807		68120303	1	no_errors	ENST00000380035	ensembl	human	known	70_37	missense	SNP	0.933	A	A	68120303	G	A	68120303	3	1	100	1	0	0	0	0	1	0	0	0	8675	1058	37	1	2015	1	LBXCOR1	15	68120303	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	4114630	68120303	34411089	132	14573										
PPL	5493	genome.wustl.edu	37	chr16	4936000	4936000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cgcctcctccactccagagtCcggcctattcctttgcaggg	9	17	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:4936000C>G	ENST00000345988.2	-	22	2745	c.2656G>C	c.(2656-2658)Gac>Cac	p.D886H	PPL_ENST00000590782.2_Missense_Mutation_p.D884H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	886					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACTCCAGAGTCCGGCCTATTC	0.562																																																	0													66	69	68					16																	4936000		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2656G>C	16.37:g.4936000C>G	ENSP00000340510:p.Asp886His		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D886H	ENST00000345988.2	37	c.2656	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109773	0.37242	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.07	4.1	0.47936	.	0.385903	0.26279	N	0.025298	T	0.30603	0.0770	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.27262	0.078	T	0.30268	-0.9984	10	0.54805	T	0.06	.	13.9118	0.63871	0.0:0.9249:0.0:0.0751	.	886	O60437	PEPL_HUMAN	H	886	ENSP00000340510:D886H	ENSP00000340510:D886H	D	-	1	0	PPL	4876001	0.000000	0.05858	0.130000	0.21974	0.010000	0.07245	0.976000	0.29462	1.110000	0.41699	0.455000	0.32223	GAC	PPL	-	NULL		0.562	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4936000	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.112	G	G	4936000	C	G	4936000	3	3	100	1	0	0	0	0	1	0	0	0	12361	855	30	1	2618	1	PPL	16	4936000	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		4936000	85418753	133	14574										
KIAA0556	23247	genome.wustl.edu	37	chr16	27659991	27659991	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aacctcctgtggactattctGatgattttgagctgtgtggg	12	7	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:27659991G>C	ENST00000261588.4	+	6	494	c.475G>C	c.(475-477)Gat>Cat	p.D159H	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	159						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGACTATTCTGATGATTTTGA	0.517																																																	0													102	81	88					16																	27659991		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.475G>C	16.37:g.27659991G>C	ENSP00000261588:p.Asp159His		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.D159H	ENST00000261588.4	37	c.475	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860046	0.51482	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.44482	0.92	4.82	4.82	0.62117	.	0.118609	0.53938	D	0.000044	T	0.38665	0.1049	N	0.19112	0.55	0.31891	N	0.617211	P;B	0.41569	0.755;0.035	P;B	0.48141	0.568;0.04	T	0.52155	-0.8613	10	0.87932	D	0	-0.7325	13.7532	0.62921	0.0:0.0:1.0:0.0	.	24;159	Q8N803;O60303	.;K0556_HUMAN	H	159;23	ENSP00000261588:D159H	ENSP00000261588:D159H	D	+	1	0	KIAA0556	27567492	0.994000	0.37717	0.998000	0.56505	0.362000	0.29581	2.535000	0.45685	2.380000	0.81148	0.650000	0.86243	GAT	KIAA0556	-	NULL		0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27659991	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.999	C	C	27659991	G	C	27659991	3	2	100	1	0	0	0	0	1	0	0	0	8203	1290	45	1	497	1	KIAA0556	16	27659991	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	22723991	27659991	62694762	134	14575										
CYB5B	80777	genome.wustl.edu	37	chr16	69481063	69481063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttccttgtagcaccctggagGagaagaggttctgctggaac	13	9	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:69481063G>T	ENST00000512062.1	+	2	344	c.173G>T	c.(172-174)gGa>gTa	p.G58V	CYB5B_ENST00000561792.1_Missense_Mutation_p.G58V|CYB5B_ENST00000515314.1_Missense_Mutation_p.G58V|CYB5B_ENST00000307892.8_Missense_Mutation_p.G62V			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	58	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CACCCTGGAGGAGAAGAGGTT	0.448																																																	0													113	105	108					16																	69481063		1893	4114	6007	SO:0001583	missense	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.173G>T	16.37:g.69481063G>T	ENSP00000423679:p.Gly58Val		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.G62V	ENST00000512062.1	37	c.185		16	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762963	0.89932	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	D;D;D	0.89485	-2.52;-2.52;-2.52	5.33	5.33	0.75918	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.99922	4.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99755	1.1019	10	0.87932	D	0	0.0481	17.7919	0.88555	0.0:0.0:1.0:0.0	.	58;58;58	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	V	58;62;58	ENSP00000423679:G58V;ENSP00000308430:G62V;ENSP00000421492:G58V	ENSP00000308430:G62V	G	+	2	0	CYB5B	68038564	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.166000	0.94766	2.491000	0.84063	0.650000	0.86243	GGA	CYB5B	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5		0.448	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	G	NM_030579		69481063	1	no_errors	ENST00000307892	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69481063	G	T	69481063	3	4	100	1	0	0	0	0	1	0	0	0	4128	1174	41	3	191	3	CYB5B	16	69481063	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	41821072	69481063	20873690	135	14576										
CYB5B	80777	genome.wustl.edu	37	chr16	69481080	69481080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaggagaagaggttctgctgGaacaagctggtgtagatgca	16	5	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:69481080G>A	ENST00000512062.1	+	2	361	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CYB5B_ENST00000561792.1_Missense_Mutation_p.E64K|CYB5B_ENST00000515314.1_Missense_Mutation_p.E64K|CYB5B_ENST00000307892.8_Missense_Mutation_p.E68K			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	64	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GGTTCTGCTGGAACAAGCTGG	0.443																																																	0													124	116	118					16																	69481080		1897	4120	6017	SO:0001583	missense	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.190G>A	16.37:g.69481080G>A	ENSP00000423679:p.Glu64Lys		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.E68K	ENST00000512062.1	37	c.202		16	.	.	.	.	.	.	.	.	.	.	G	36	5.648321	0.96714	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	T;T;T	0.79845	-1.31;-1.31;-1.31	5.44	5.44	0.79542	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	L	0.55213	1.73	0.80722	D	1	P;D;D	0.89917	0.933;1.0;0.975	P;D;P	0.87578	0.897;0.998;0.893	D	0.88807	0.3289	10	0.87932	D	0	-0.2438	18.0505	0.89347	0.0:0.0:1.0:0.0	.	64;64;64	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	K	64;68;64	ENSP00000423679:E64K;ENSP00000308430:E68K;ENSP00000421492:E64K	ENSP00000308430:E68K	E	+	1	0	CYB5B	68038581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.166000	0.94766	2.551000	0.86045	0.650000	0.86243	GAA	CYB5B	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5		0.443	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	G	NM_030579		69481080	1	no_errors	ENST00000307892	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69481080	G	A	69481080	3	1	100	1	0	0	0	0	1	0	0	0	4128	1175	41	1	208	1	CYB5B	16	69481080	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	17	69481080	20873673	136	14577										
LDHD	197257	genome.wustl.edu	37	chr16	75148489	75148489	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggcagcaccacctccaggttGagcacgttgtcccgcatggt	12	14	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:75148489G>C	ENST00000450168.2	-	5	614	c.564C>G	c.(562-564)ctC>ctG	p.L188L	LDHD_ENST00000300051.4_Silent_p.L188L	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCTCCAGGTTGAGCACGTTGT	0.746																																																	0													14	17	16					16																	75148489		2015	3908	5923	SO:0001819	synonymous_variant	197257			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.564C>G	16.37:g.75148489G>C				Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.L188	ENST00000450168.2	37	c.564	CCDS45529.1	16																																																																																			LDHD	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2		0.746	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	G	NM_153486		75148489	-1	no_errors	ENST00000300051	ensembl	human	known	70_37	silent	SNP	0.128	C	C	75148489	G	C	75148489	2	2	100	1	0	0	0	0	0	0	0	1	8723	1277	45	1		1	LDHD	16	75148489	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	5667409	75148489	15206264	137	14578										
PKD1L2	114780	genome.wustl.edu	37	chr16	81253777	81253777	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccactgggtgccttcgtcctGaatgaagaccaaatggcctc	10	13	0	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:81253777G>C	ENST00000525539.1	-	0	198				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTCGTCCTGAATGAAGACC	0.562																																																	0													109	106	107					16																	81253777		2045	4206	6251			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253777G>C			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.Q67E	ENST00000525539.1	37	c.199		16	.	.	.	.	.	.	.	.	.	.	G	0.276	-0.989670	0.02162	.	.	ENSG00000166473	ENST00000337114	T	0.16457	2.34	4.17	2.02	0.26589	C-type lectin fold (1);C-type lectin (3);	1.314310	0.05012	N	0.471173	T	0.06325	0.0163	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33929	-0.9849	9	0.02654	T	1	3.4229	4.4718	0.11715	0.0943:0.2556:0.5219:0.1282	.	67;67	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	E	67	ENSP00000337397:Q67E	ENSP00000337397:Q67E	Q	-	1	0	PKD1L2	79811278	0.978000	0.34361	0.692000	0.30179	0.164000	0.22412	1.923000	0.40055	0.966000	0.38159	0.563000	0.77884	CAG	DKFZP686J19100	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	Uniprot_genename	polymorphic_pseudogene	OTTHUMT00000387972.2	G			81253777	-1	no_errors	ENST00000337114	ensembl	human	known	70_37	missense	SNP	0.175	C	C	81253777	G	C	81253777	1	2	100	0	1	0	0	0	0	0	0	0	11989	1299	45	1		1	PKD1L2	16	81253777	RNA	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	6105288	81253777	9100976	138	14579										
CDK10	8558	genome.wustl.edu	37	chr16	89756984	89756984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gggcccgggacacccagacaGatgagattgtcgcactgaag	14	11	0	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:89756984G>C	ENST00000353379.7	+	3	227	c.184G>C	c.(184-186)Gat>Cat	p.D62H	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Missense_Mutation_p.D15H|CDK10_ENST00000505473.1_5'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CACCCAGACAGATGAGATTGT	0.577																																																	0													223	177	193					16																	89756984		2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.184G>C	16.37:g.89756984G>C	ENSP00000338673:p.Asp62His		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	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.D62H	ENST00000353379.7	37	c.184	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982520	0.34942	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000353379	T;T	0.45276	0.9;0.9	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.196580	0.53938	D	0.000052	T	0.36386	0.0965	L	0.39397	1.21	0.80722	D	1	B;B;B	0.17038	0.02;0.014;0.02	B;B;B	0.24394	0.048;0.053;0.03	T	0.23511	-1.0186	10	0.66056	D	0.02	-25.0692	11.9489	0.52944	0.0802:0.0:0.9198:0.0	.	56;62;56	B7Z319;Q15131;B3KQJ3	.;CDK10_HUMAN;.	H	15;33;62	ENSP00000329957:D15H;ENSP00000338673:D62H	ENSP00000329957:D15H	D	+	1	0	CDK10	88284485	0.998000	0.40836	0.953000	0.39169	0.984000	0.73092	2.795000	0.47861	2.355000	0.79922	0.561000	0.74099	GAT	CDK10	-	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		0.577	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89756984	1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	0.971	C	C	89756984	G	C	89756984	3	2	100	1	0	0	0	0	1	0	0	0	3130	942	33	1	194	1	CDK10	16	89756984	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	8503207	89756984	597769	139	14580										
MNT	4335	genome.wustl.edu	37	chr17	2298236	2298236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgccaacttcagggtccccaGcgtgggtgggggcggctgct	17	12	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:2298236G>T	ENST00000174618.4	-	2	991	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	196					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		AGGGTCCCCAGCGTGGGTGGG	0.677																																																	0													9	11	11					17																	2298236		2186	4282	6468	SO:0001583	missense	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.586C>A	17.37:g.2298236G>T	ENSP00000174618:p.Leu196Met		A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L196M	ENST00000174618.4	37	c.586	CCDS11018.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890692	0.52014	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.82344	-1.6	4.24	4.24	0.50183	.	0.320659	0.21684	U	0.070672	D	0.85792	0.5779	L	0.50333	1.59	0.53688	D	0.999975	D	0.65815	0.995	P	0.56278	0.795	D	0.85362	0.1108	10	0.38643	T	0.18	-8.6994	15.9806	0.80105	0.0:0.0:1.0:0.0	.	196	Q99583	MNT_HUMAN	M	196	ENSP00000174618:L196M	ENSP00000174618:L196M	L	-	1	2	MNT	2244986	1.000000	0.71417	0.618000	0.29105	0.638000	0.38207	6.231000	0.72307	2.085000	0.62840	0.563000	0.77884	CTG	MNT	-	NULL		0.677	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	G	NM_020310		2298236	-1	no_errors	ENST00000174618	ensembl	human	known	70_37	missense	SNP	0.969	T	T	2298236	G	T	2298236	3	4	100	1	0	0	0	0	1	0	0	0	9701	962	34	4	1182	4	MNT	17	2298236	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		2298236	78896974	140	14581										
PHF23	79142	genome.wustl.edu	37	chr17	7140950	7140950	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aggtaaggcaaacctcacctGagtctctggcttaagggtcg	12	10	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:7140950G>T	ENST00000320316.3	-	2	290	c.64C>A	c.(64-66)Cag>Aag	p.Q22K	PHF23_ENST00000454255.2_Missense_Mutation_p.Q18K|PHF23_ENST00000576955.1_Intron|PHF23_ENST00000571362.1_Missense_Mutation_p.Q22K|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	22							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AACCTCACCTGAGTCTCTGGC	0.517																																																	0													130	145	140					17																	7140950		1964	4140	6104	SO:0001583	missense	79142			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.64C>A	17.37:g.7140950G>T	ENSP00000322579:p.Gln22Lys		A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.Q22K	ENST00000320316.3	37	c.64	CCDS42250.1	17	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116803	0.56505	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.32272	1.46;1.49	4.7	4.7	0.59300	.	0.088273	0.48286	D	0.000183	T	0.20901	0.0503	L	0.34521	1.04	0.34356	D	0.690362	P;P	0.48764	0.915;0.915	B;B	0.41088	0.347;0.258	T	0.11421	-1.0588	10	0.07175	T	0.84	-4.9706	13.1244	0.59346	0.0:0.0:1.0:0.0	.	22;22	B4DLK6;Q9BUL5	.;PHF23_HUMAN	K	22;18;22	ENSP00000322579:Q22K;ENSP00000414607:Q18K	ENSP00000043410:Q22K	Q	-	1	0	PHF23	7081674	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.840000	0.69402	2.140000	0.66376	0.557000	0.71058	CAG	PHF23	-	NULL		0.517	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	HGNC	protein_coding	OTTHUMT00000440047.1	G	NM_024297		7140950	-1	no_errors	ENST00000320316	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7140950	G	T	7140950	3	4	100	1	0	0	0	0	1	0	0	0	11859	1299	45	3	1163	3	PHF23	17	7140950	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	4842714	7140950	74054260	141	14582										
MYH13	8735	genome.wustl.edu	37	chr17	10263346	10263346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	attgttgcaaaatactggatGacacgcttggtgttcacagt	10	7	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:10263346G>A	ENST00000418404.3	-	6	739	c.576C>T	c.(574-576)gtC>gtT	p.V192V	MYH13_ENST00000252172.4_Silent_p.V192V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	192	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATACTGGATGACACGCTTGG	0.522																																																	0													109	110	109					17																	10263346		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.576C>T	17.37:g.10263346G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V192	ENST00000418404.3	37	c.576	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10263346	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10263346	G	A	10263346	2	1	100	1	0	0	0	0	0	0	0	1	10055	1277	45	1		1	MYH13	17	10263346	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	3122396	10263346	70931864	142	14583										
MYH13	8735	genome.wustl.edu	37	chr17	10263483	10263483	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agaggtgttactcacgtgatGaggatagactggttgtctcg	14	6	2	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:10263483G>A	ENST00000418404.3	-	5	691	c.528C>T	c.(526-528)ctC>ctT	p.L176L	MYH13_ENST00000252172.4_Silent_p.L176L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	176	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCACGTGATGAGGATAGACT	0.413																																																	0													93	97	96					17																	10263483		2196	4296	6492	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.528C>T	17.37:g.10263483G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L176	ENST00000418404.3	37	c.528	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.413	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10263483	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	0.333	A	A	10263483	G	A	10263483	2	1	100	1	0	0	0	0	0	0	0	1	10055	1277	45	1		1	MYH13	17	10263483	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	137	10263483	70931727	143	14584										
MYH4	4622	genome.wustl.edu	37	chr17	10356553	10356553	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atctgcaggtcatccagggtCtgctggtgggcctcctggag	15	11	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:10356553C>T	ENST00000255381.2	-	24	3137	c.3027G>A	c.(3025-3027)caG>caA	p.Q1009Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1009					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCCAGGGTCTGCTGGTGGG	0.488																																																	0													252	233	240					17																	10356553		2203	4300	6503	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3027G>A	17.37:g.10356553C>T				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1009	ENST00000255381.2	37	c.3027	CCDS11154.1	17																																																																																			MYH4	-	NULL		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10356553	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10356553	C	T	10356553	2	4	100	1	0	0	0	0	0	0	0	1	10060	912	32	1		1	MYH4	17	10356553	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	93070	10356553	70838657	144	14585										
RAI1	10743	genome.wustl.edu	37	chr17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtgggctgctgcagtgccccGaggtggccaaggctgaccgg	18	12	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692																																																	0													21	27	25					17																	17698750		2199	4295	6494	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2488G>A	17.37:g.17698750G>A	ENSP00000323074:p.Glu830Lys		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.E830K	ENST00000353383.1	37	c.2488	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433669	0.43224	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69926	-0.44;2.3;0.16	5.37	4.4	0.53042	.	0.313591	0.30639	N	0.009191	T	0.57431	0.2053	L	0.57536	1.79	0.36301	D	0.857034	P	0.40681	0.727	B	0.27262	0.078	T	0.68500	-0.5392	10	0.51188	T	0.08	.	14.1992	0.65690	0.0727:0.0:0.9273:0.0	.	830	Q7Z5J4	RAI1_HUMAN	K	830;830;830;830;830;782	ENSP00000323074:E830K;ENSP00000379120:E830K;ENSP00000261641:E830K	ENSP00000261641:E830K	E	+	1	0	RAI1	17639475	1.000000	0.71417	0.879000	0.34478	0.385000	0.30292	6.910000	0.75741	1.265000	0.44215	0.561000	0.74099	GAG	RAI1	-	NULL		0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17698750	1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.972	A	A	17698750	G	A	17698750	3	1	100	1	0	0	0	0	1	0	0	0	13037	1059	37	1	2490	1	RAI1	17	17698750	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	7342197	17698750	63496460	145	14586										
RAI1	10743	genome.wustl.edu	37	chr17	17698867	17698867	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aggaggacctggaagctgagGaggagtactcctccctatgt	14	9	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:17698867G>C	ENST00000353383.1	+	3	3074	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	RAI1_ENST00000261641.6_Missense_Mutation_p.E869Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	869					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAAGCTGAGGAGGAGTACTC	0.662																																																	0													25	25	25					17																	17698867		2198	4294	6492	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2605G>C	17.37:g.17698867G>C	ENSP00000323074:p.Glu869Gln		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.E869Q	ENST00000353383.1	37	c.2605	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233579	0.79688	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.73897	-0.79;2.0;-0.25	5.16	5.16	0.70880	.	0.075700	0.53938	D	0.000041	D	0.84488	0.5483	L	0.60455	1.87	0.38106	D	0.937409	D	0.76494	0.999	D	0.80764	0.994	D	0.86988	0.2108	10	0.66056	D	0.02	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	869	Q7Z5J4	RAI1_HUMAN	Q	869;869;869;869;869;821	ENSP00000323074:E869Q;ENSP00000379120:E869Q;ENSP00000261641:E869Q	ENSP00000261641:E869Q	E	+	1	0	RAI1	17639592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.115000	0.57865	2.414000	0.81942	0.561000	0.74099	GAG	RAI1	-	NULL		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17698867	1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17698867	G	C	17698867	3	2	100	1	0	0	0	0	1	0	0	0	13037	1175	41	1	2607	1	RAI1	17	17698867	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	117	17698867	63496343	146	14587										
PHF12	57649	genome.wustl.edu	37	chr17	27277153	27277153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tccaccttccttgcagctatCgcagctgtcgtggttggtgg	12	12	0	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:27277153C>T	ENST00000332830.4	-	2	988	c.178G>A	c.(178-180)Gat>Aat	p.D60N	PHF12_ENST00000268756.3_Missense_Mutation_p.D60N|PHF12_ENST00000577226.1_Missense_Mutation_p.D60N	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGCAGCTATCGCAGCTGTCG	0.627																																																	0													105	92	96					17																	27277153		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.178G>A	17.37:g.27277153C>T	ENSP00000329933:p.Asp60Asn			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.D60N	ENST00000332830.4	37	c.178	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694421	0.88830	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.87412	-2.25;-2.25;-2.25	4.44	4.44	0.53790	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.108194	0.64402	D	0.000010	D	0.90293	0.6964	L	0.39514	1.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.996	D;D;D;D;D	0.91635	0.999;0.964;0.998;0.951;0.951	D	0.90465	0.4449	10	0.49607	T	0.09	-7.2797	16.1692	0.81790	0.0:1.0:0.0:0.0	.	42;60;60;60;60	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	N	60	ENSP00000329933:D60N;ENSP00000368157:D60N;ENSP00000268756:D60N	ENSP00000268756:D60N	D	-	1	0	PHF12	24301279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.174000	0.77620	2.443000	0.82685	0.655000	0.94253	GAT	PHF12	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.627	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27277153	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27277153	C	T	27277153	3	4	100	1	0	0	0	0	1	0	0	0	11847	884	31	1	2918	1	PHF12	17	27277153	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	9578286	27277153	53918057	147	14588										
PHF12	57649	genome.wustl.edu	37	chr17	27277195	27277195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cctgccgcttctccggggctCcttctcaggcttccgactgc	10	18	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:27277195C>G	ENST00000332830.4	-	2	946	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	PHF12_ENST00000268756.3_Missense_Mutation_p.E46Q|PHF12_ENST00000577226.1_Missense_Mutation_p.E46Q	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCCGGGGCTCCTTCTCAGGC	0.617																																																	0													71	68	69					17																	27277195		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.136G>C	17.37:g.27277195C>G	ENSP00000329933:p.Glu46Gln			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.E46Q	ENST00000332830.4	37	c.136	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256843	0.80246	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94576	-3.45;-3.46;-3.46	4.43	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.171772	0.50627	D	0.000111	D	0.95661	0.8589	L	0.55481	1.735	0.80722	D	1	D;D;D;P;P	0.69078	0.99;0.997;0.994;0.92;0.791	P;P;P;B;B	0.61397	0.815;0.888;0.87;0.444;0.351	D	0.95651	0.8707	10	0.54805	T	0.06	-10.563	16.1538	0.81644	0.0:1.0:0.0:0.0	.	28;46;46;46;46	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	Q	46	ENSP00000329933:E46Q;ENSP00000368157:E46Q;ENSP00000268756:E46Q	ENSP00000268756:E46Q	E	-	1	0	PHF12	24301321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.429000	0.66495	2.442000	0.82660	0.655000	0.94253	GAG	PHF12	-	superfamily_Znf_FYVE_PHD		0.617	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27277195	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27277195	C	G	27277195	3	3	100	1	0	0	0	0	1	0	0	0	11847	864	30	1	2960	1	PHF12	17	27277195	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	42	27277195	53918015	148	14589										
MLLT6	4302	genome.wustl.edu	37	chr17	36863784	36863784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	acggggcattgaagaggactGataatggaggtgaggcgggc	19	5	0	4			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:36863784G>C	ENST00000325718.7	+	3	326	c.235G>C	c.(235-237)Gat>Cat	p.D79H	CTB-58E17.1_ENST00000563897.1_lincRNA|CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.D79H	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	79					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAAGAGGACTGATAATGGAGG	0.612			T	MLL	AL																																			Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0													84	87	86					17																	36863784		2203	4300	6503	SO:0001583	missense	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.235G>C	17.37:g.36863784G>C	ENSP00000316426:p.Asp79His		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D79H	ENST00000325718.7	37	c.235	CCDS11327.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301303	0.81136	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	T;T	0.14516	2.5;2.5	5.71	5.71	0.89125	.	0.061100	0.64402	D	0.000004	T	0.46678	0.1405	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	T	0.52019	-0.8631	10	0.66056	D	0.02	.	18.4098	0.90548	0.0:0.0:1.0:0.0	.	79;79;79	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	H	79	ENSP00000316426:D79H;ENSP00000367377:D79H	ENSP00000316426:D79H	D	+	1	0	MLLT6	34117310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.406000	0.97321	2.700000	0.92200	0.561000	0.74099	GAT	MLLT6	-	NULL		0.612	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	HGNC	protein_coding	OTTHUMT00000256799.1	G	NM_005937		36863784	1	no_errors	ENST00000325718	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36863784	G	C	36863784	3	2	100	1	0	0	0	0	1	0	0	0	9653	1290	45	1	245	1	MLLT6	17	36863784	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	9586589	36863784	44331426	149	14590										
MED24	9862	genome.wustl.edu	37	chr17	38192033	38192033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgcctggacacacaggtcccGagaaaagtcatcaaactgtg	10	11	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:38192033G>A	ENST00000394128.2	-	5	349	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	MED24_ENST00000394127.2_Missense_Mutation_p.R77W|MED24_ENST00000501516.3_Missense_Mutation_p.R90W|MED24_ENST00000356271.3_Missense_Mutation_p.R77W|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394126.1_Missense_Mutation_p.R115W	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	90					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACAGGTCCCGAGAAAAGTCA	0.537																																																	0													97	78	84					17																	38192033		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.268C>T	17.37:g.38192033G>A	ENSP00000377686:p.Arg90Trp		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.R90W	ENST00000394128.2	37	c.268	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160561	0.38119	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000543759;ENST00000537674;ENST00000535508;ENST00000428757	T;T;T	0.72835	0.66;0.66;-0.69	5.55	4.59	0.56863	Mediator complex, subunit Med24, N-terminal (1);	0.118962	0.56097	D	0.000027	T	0.77691	0.4168	L	0.51422	1.61	0.80722	D	1	D;B;D;B;B;B	0.89917	1.0;0.26;1.0;0.14;0.054;0.066	D;B;D;B;B;B	0.73708	0.97;0.057;0.981;0.029;0.017;0.028	T	0.78886	-0.2027	10	0.72032	D	0.01	-19.931	9.4298	0.38604	0.0713:0.0:0.7861:0.1425	.	45;77;40;40;77;90	B9TX63;B9TX65;B4DV99;F5H5K2;O75448-2;O75448	.;.;.;.;.;MED24_HUMAN	W	90;90;90;40;77;64;64;64;90	ENSP00000377686:R90W;ENSP00000443344:R40W;ENSP00000377685:R77W	ENSP00000348610:R90W	R	-	1	2	MED24	35445559	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.963000	0.70372	1.595000	0.50050	-0.136000	0.14681	CGG	MED24	-	pfam_Mediator_Med24_N		0.537	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	G	NM_014815		38192033	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38192033	G	A	38192033	3	1	100	1	0	0	0	0	1	0	0	0	9465	1057	37	1	2789	1	MED24	17	38192033	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1328249	38192033	43003177	150	14591										
NBR1	4077	genome.wustl.edu	37	chr17	41348588	41348588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agaggaagagaatgaaggggCaggatttaaagcacttcctg	14	5	0	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:41348588C>T	ENST00000422280.1	+	15	2300	c.1841C>T	c.(1840-1842)gCa>gTa	p.A614V	NBR1_ENST00000341165.6_Missense_Mutation_p.A614V|NBR1_ENST00000589872.1_Missense_Mutation_p.A614V|NBR1_ENST00000542611.1_Missense_Mutation_p.A593V|NBR1_ENST00000389312.4_Missense_Mutation_p.A614V|NBR1_ENST00000590996.1_Missense_Mutation_p.A614V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	614	ATG8 family protein-binding.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AATGAAGGGGCAGGATTTAAA	0.448																																																	0													60	53	55					17																	41348588		1568	3581	5149	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1841C>T	17.37:g.41348588C>T	ENSP00000411250:p.Ala614Val		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.A614V	ENST00000422280.1	37	c.1841	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711877	0.30322	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.62	2.59	0.31030	.	.	.	.	.	T	0.18676	0.0448	L	0.50333	1.59	0.09310	N	1	B;B;B	0.29646	0.129;0.253;0.124	B;B;B	0.32980	0.036;0.156;0.054	T	0.31475	-0.9942	9	0.54805	T	0.06	0.5293	3.0299	0.06103	0.1181:0.5389:0.1278:0.2152	.	593;614;614	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	V	614;593;614;614;614	ENSP00000411250:A614V;ENSP00000437545:A593V;ENSP00000343479:A614V;ENSP00000373963:A614V	ENSP00000343479:A614V	A	+	2	0	NBR1	38704114	0.997000	0.39634	0.896000	0.35187	0.560000	0.35617	2.071000	0.41500	0.328000	0.23435	-0.229000	0.12294	GCA	NBR1	-	NULL		0.448	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	C	NM_005899		41348588	1	no_errors	ENST00000341165	ensembl	human	known	70_37	missense	SNP	0.242	T	T	41348588	C	T	41348588	3	4	100	1	0	0	0	0	1	0	0	0	10224	710	25	4	1895	4	NBR1	17	41348588	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	3156555	41348588	39846622	151	14592										
WNT9B	7484	genome.wustl.edu	37	chr17	44950037	44950037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agcccggcctggctgagaccCtgagggatgctgcgcacctc	14	15	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:44950037C>T	ENST00000290015.2	+	2	285	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	WNT9B_ENST00000393461.2_Silent_p.L78L	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	78					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGCTGAGACCCTGAGGGATGC	0.672																																																	0													27	32	30					17																	44950037		2202	4300	6502	SO:0001819	synonymous_variant	7484			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.232C>T	17.37:g.44950037C>T			Q6UXT4|Q96Q09	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.L78	ENST00000290015.2	37	c.232	CCDS11506.1	17																																																																																			WNT9B	-	pfam_Wnt,smart_Wnt		0.672	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9B	HGNC	protein_coding	OTTHUMT00000440433.1	C	NM_003396		44950037	1	no_errors	ENST00000290015	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44950037	C	T	44950037	2	4	100	1	0	0	0	0	0	0	0	1	17430	680	24	4		4	WNT9B	17	44950037	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	3601449	44950037	36245173	152	14593										
SP2	6668	genome.wustl.edu	37	chr17	45994157	45994157	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gaaagccccccaaccccgctGtctaagactaacaagaaagc	7	15	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:45994157G>T	ENST00000376741.4	+	3	857	c.720G>T	c.(718-720)ctG>ctT	p.L240L	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	240					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAACCCCGCTGTCTAAGACTA	0.607																																																	0													85	91	89					17																	45994157		2203	4300	6503	SO:0001819	synonymous_variant	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.720G>T	17.37:g.45994157G>T			A6NK74	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L240	ENST00000376741.4	37	c.720	CCDS11521.2	17																																																																																			SP2	-	NULL		0.607	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	G	NM_003110		45994157	1	no_errors	ENST00000376741	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45994157	G	T	45994157	2	4	100	1	0	0	0	0	0	0	0	1	14994	1364	48	4		4	SP2	17	45994157	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1044120	45994157	35201053	153	14594										
ME2	4200	genome.wustl.edu	37	chr18	48450510	48450510	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gttatcaggaaccatttactCactcagccccagagagcata	7	12	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr18:48450510C>T	ENST00000321341.5	+	11	1371	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	ME2_ENST00000382927.3_Missense_Mutation_p.H367Y	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	367					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ACCATTTACTCACTCAGCCCC	0.308																																																	0													114	114	114					18																	48450510		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1099C>T	18.37:g.48450510C>T	ENSP00000321070:p.His367Tyr		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.H367Y	ENST00000321341.5	37	c.1099	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061163	0.55432	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.30182	1.54;1.54	5.56	5.56	0.83823	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.90922	3.16	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	D;D	0.72982	0.962;0.979	T	0.72144	-0.4379	10	0.87932	D	0	-16.7519	16.8161	0.85734	0.0:1.0:0.0:0.0	.	367;367	Q9BWL6;P23368	.;MAOM_HUMAN	Y	367	ENSP00000321070:H367Y;ENSP00000372384:H367Y	ENSP00000321070:H367Y	H	+	1	0	ME2	46704508	0.997000	0.39634	0.870000	0.34147	0.167000	0.22549	3.960000	0.56752	2.781000	0.95711	0.650000	0.86243	CAC	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd		0.308	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	C	NM_002396		48450510	1	no_errors	ENST00000321341	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48450510	C	T	48450510	3	4	100	1	0	0	0	0	1	0	0	0	9441	826	29	1	1137	1	ME2	18	48450510	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		48450510	29626738	154	14595										
ZNF532	55205	genome.wustl.edu	37	chr18	56615335	56615335	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tccatgtgcgacactgtgttCaccctgcaaaccttgctgta	8	13	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr18:56615335C>T	ENST00000336078.4	+	7	3518	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F	ZNF532_ENST00000591230.1_Silent_p.F914F|ZNF532_ENST00000589288.1_Silent_p.F914F|ZNF532_ENST00000591808.1_Silent_p.F914F|ZNF532_ENST00000591083.1_Silent_p.F914F	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	914					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACACTGTGTTCACCCTGCAAA	0.413																																																	0													122	121	121					18																	56615335		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2742C>T	18.37:g.56615335C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F914	ENST00000336078.4	37	c.2742	CCDS11969.1	18																																																																																			ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	C	NM_018181		56615335	1	no_errors	ENST00000336078	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56615335	C	T	56615335	2	4	100	1	0	0	0	0	0	0	0	1	18002	825	29	1		1	ZNF532	18	56615335	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8164825	56615335	21461913	155	14596										
SALL3	27164	genome.wustl.edu	37	chr18	76754104	76754104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	accggacgcacacgggggagCggccgttcaagtgcaagatc	15	12	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr18:76754104C>T	ENST00000537592.2	+	2	2113	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	SALL3_ENST00000575389.2_Missense_Mutation_p.R705W|SALL3_ENST00000536229.3_Missense_Mutation_p.R572W	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	705					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGGGGGAGCGGCCGTTCAA	0.652																																																	0													33	32	32					18																	76754104		2203	4300	6503	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2113C>T	18.37:g.76754104C>T	ENSP00000441823:p.Arg705Trp		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R705W	ENST00000537592.2	37	c.2113	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	8.642	0.896133	0.17686	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.20332	2.08	5.33	-2.97	0.05530	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000036	T	0.51432	0.1674	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68777	-0.5319	10	0.87932	D	0	-42.2151	19.0443	0.93013	0.8442:0.1558:0.0:0.0	.	437;705	F5GXY4;Q9BXA9	.;SALL3_HUMAN	W	705;705;437	ENSP00000441823:R705W	ENSP00000299466:R705W	R	+	1	2	SALL3	74855092	1.000000	0.71417	0.909000	0.35828	0.514000	0.34195	1.284000	0.33249	-0.381000	0.07882	-0.182000	0.12963	CGG	SALL3	-	pfscan_Znf_C2H2		0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	C	NM_171999		76754104	1	no_errors	ENST00000537592	ensembl	human	known	70_37	missense	SNP	0.996	T	T	76754104	C	T	76754104	3	4	100	1	0	0	0	0	1	0	0	0	13842	759	27	2	2119	2	SALL3	18	76754104	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	20138769	76754104	1323144	156	14597										
ZNF77	58492	genome.wustl.edu	37	chr19	2933928	2933928	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttcaccccgctgtgtgttttCacatgtcttctaaagtaagt	7	10	4	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:2933928C>T	ENST00000314531.4	-	4	1289	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGTGTTTTCACATGTCTTC	0.512																																																	0													105	91	96					19																	2933928		2203	4300	6503	SO:0001819	synonymous_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1197G>A	19.37:g.2933928C>T			Q86XJ3|Q9NPP0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V399	ENST00000314531.4	37	c.1197	CCDS12099.1	19																																																																																			ZNF77	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	C	NM_021217		2933928	-1	no_errors	ENST00000314531	ensembl	human	known	70_37	silent	SNP	0.340	T	T	2933928	C	T	2933928	2	4	100	1	0	0	0	0	0	0	0	1	18172	813	29	1		1	ZNF77	19	2933928	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		2933928	56195055	157	14598										
KIAA1543	57662	genome.wustl.edu	37	chr19	7678011	7678011	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tggaggaggaggcgtcttcgGagggggagccccgggtgggg	24	7	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:7678011G>T	ENST00000160298.4	+	11	2733	c.2632G>T	c.(2632-2634)Gag>Tag	p.E878*	CAMSAP3_ENST00000446248.2_Nonsense_Mutation_p.E905*	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	878					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCGTCTTCGGAGGGGGAGCC	0.731																																																	0													3	3	3					19																	7678011		1352	3017	4369	SO:0001587	stop_gained	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2632G>T	19.37:g.7678011G>T	ENSP00000160298:p.Glu878*		Q8NDF1	Nonsense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E905*	ENST00000160298.4	37	c.2713	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	36	5.768792	0.96914	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	.	.	.	5.21	3.95	0.45737	.	0.187337	0.26010	N	0.026898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.4065	11.6343	0.51194	0.1019:0.0:0.8981:0.0	.	.	.	.	X	905;878	.	ENSP00000160298:E878X	E	+	1	0	KIAA1543	7584011	1.000000	0.71417	0.944000	0.38274	0.116000	0.19942	3.134000	0.50538	2.436000	0.82500	0.551000	0.68910	GAG	CAMSAP3	-	NULL		0.731	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7678011	1	no_errors	ENST00000446248	ensembl	human	known	70_37	nonsense	SNP	0.915	T	T	7678011	G	T	7678011	4	4	100	1	0	0	0	0	0	1	0	0	8263	1175	41	3	2763	3	KIAA1543	19	7678011	Nonsense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	4744083	7678011	51450972	158	14599										
LRRC8E	80131	genome.wustl.edu	37	chr19	7963642	7963642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgctgcctcgggggatccctGagcagattggggccctgcag	16	12	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:7963642G>A	ENST00000306708.6	+	3	336	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	79					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGGGATCCCTGAGCAGATTGG	0.522																																																	0													92	95	94					19																	7963642		2203	4300	6503	SO:0001583	missense	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.235G>A	19.37:g.7963642G>A	ENSP00000306524:p.Glu79Lys		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E79K	ENST00000306708.6	37	c.235	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.240741	0.01493	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	.	0.601605	0.17117	N	0.186383	T	0.13157	0.0319	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18209	-1.0344	10	0.07813	T	0.8	.	11.8556	0.52435	0.0:0.1757:0.8243:0.0	.	79	Q6NSJ5	LRC8E_HUMAN	K	79	ENSP00000306524:E79K	ENSP00000306524:E79K	E	+	1	0	LRRC8E	7869642	0.927000	0.31430	0.945000	0.38365	0.146000	0.21551	2.430000	0.44766	2.709000	0.92574	0.655000	0.94253	GAG	LRRC8E	-	NULL		0.522	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	G	NM_025061		7963642	1	no_errors	ENST00000306708	ensembl	human	known	70_37	missense	SNP	0.015	A	A	7963642	G	A	7963642	3	1	100	1	0	0	0	0	1	0	0	0	9048	1291	45	1	241	1	LRRC8E	19	7963642	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	285631	7963642	51165341	159	14600										
ZNF763	284390	genome.wustl.edu	37	chr19	12089811	12089811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atcccagttcccttcgtagaCatgaaaggacccactctgcg	8	14	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:12089811C>A	ENST00000358987.3	+	4	1199	c.1072C>A	c.(1072-1074)Cat>Aat	p.H358N	ZNF763_ENST00000545530.1_Missense_Mutation_p.H236N|ZNF763_ENST00000343949.5_Missense_Mutation_p.H361N|ZNF763_ENST00000590798.1_Missense_Mutation_p.H378N|ZNF763_ENST00000538752.1_Missense_Mutation_p.H378N			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCTTCGTAGACATGAAAGGAC	0.413																																																	0													97	102	100					19																	12089811		2167	4287	6454	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1072C>A	19.37:g.12089811C>A	ENSP00000402017:p.His358Asn		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H378N	ENST00000358987.3	37	c.1132		19	.	.	.	.	.	.	.	.	.	.	c	15.06	2.722496	0.48728	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94860	0.8339	H	0.97158	3.95	0.33815	D	0.628304	P;D;D	0.67145	0.891;0.975;0.996	D;P;D	0.85130	0.909;0.894;0.997	D	0.94969	0.8115	9	0.87932	D	0	.	9.7201	0.40297	0.0:1.0:0.0:0.0	.	378;358;361	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	N	378;361;236;358	ENSP00000438117:H378N;ENSP00000369774:H361N;ENSP00000446166:H236N;ENSP00000402017:H358N	ENSP00000369774:H361N	H	+	1	0	ZNF763	11950811	0.124000	0.22315	0.014000	0.15608	0.017000	0.09413	2.268000	0.43338	0.740000	0.32651	0.205000	0.17691	CAT	ZNF763	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1	C	NM_001012753		12089811	1	no_errors	ENST00000538752	ensembl	human	known	70_37	missense	SNP	0.979	A	A	12089811	C	A	12089811	3	1	100	1	0	0	0	0	1	0	0	0	18167	478	17	4	1095	4	ZNF763	19	12089811	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	4126169	12089811	47039172	160	14601										
SAMD1	646457	genome.wustl.edu	37	chr19	14199246	14199246	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cgctcagcctaagaagccatCggggtcatcatcctcaaagt	9	13	4	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:14199246C>T	ENST00000548523.1	-	0	0				C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.D428N	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						AAGAAGCCATCGGGGTCATCA	0.632																																																	0													80	85	83					19																	14199246		2027	4159	6186	SO:0001631	upstream_gene_variant	90378				CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199246C>T	Exception_encountered			Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D428N	ENST00000548523.1	37	c.1282	CCDS59360.1	19	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256892	0.59321	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T	0.49720	0.77	4.73	3.69	0.42338	.	0.361658	0.23424	N	0.048329	T	0.28067	0.0692	N	0.14661	0.345	0.28948	N	0.890598	B	0.26363	0.147	B	0.18561	0.022	T	0.21314	-1.0249	10	0.66056	D	0.02	-16.3588	8.5847	0.33651	0.0:0.8949:0.0:0.1051	.	428	E9PIW9	.	N	428;128	ENSP00000431971:D428N	ENSP00000269724:D128N	D	-	1	0	SAMD1	14060246	0.950000	0.32346	0.953000	0.39169	0.902000	0.53008	2.020000	0.41010	1.202000	0.43218	0.655000	0.94253	GAT	SAMD1	-	NULL		0.632	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000403368.1	C	XM_929382		14199246	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	missense	SNP	0.931	T	T	14199246	C	T	14199246	1	4	100	0	1	0	0	0	0	0	0	0	13844	884	31	1		1	SAMD1	19	14199246	5'Flank	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	2109435	14199246	44929737	161	14602										
CYP4F11	57834	genome.wustl.edu	37	chr19	16033213	16033213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agcttctgctcttatgtcctCatcagacaattccttcccat	4	14	4	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:16033213C>T	ENST00000402119.4	-	7	1372	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CYP4F11_ENST00000326742.8_Missense_Mutation_p.E316K|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.E316K	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTTATGTCCTCATCAGACAAT	0.517																																																	0													247	209	222					19																	16033213		2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.946G>A	19.37:g.16033213C>T	ENSP00000384588:p.Glu316Lys			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E316K	ENST00000402119.4	37	c.946	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	c	13.39	2.223063	0.39300	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.70516	-0.49;-0.49;-0.49	2.61	2.61	0.31194	.	0.183499	0.34268	U	0.004113	T	0.65144	0.2663	L	0.50993	1.605	0.58432	D	0.99999	B;B	0.27823	0.001;0.19	B;B	0.34385	0.026;0.181	T	0.66015	-0.6028	10	0.46703	T	0.11	.	10.9184	0.47150	0.0:1.0:0.0:0.0	.	316;316	F8W978;Q9HBI6	.;CP4FB_HUMAN	K	316	ENSP00000384588:E316K;ENSP00000248041:E316K;ENSP00000319859:E316K	ENSP00000248041:E316K	E	-	1	0	CYP4F11	15894213	0.999000	0.42202	0.994000	0.49952	0.888000	0.51559	4.126000	0.57937	1.439000	0.47511	0.305000	0.20034	GAG	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	C	NM_021187		16033213	-1	no_errors	ENST00000248041	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16033213	C	T	16033213	3	4	100	1	0	0	0	0	1	0	0	0	4191	835	29	1	652	1	CYP4F11	19	16033213	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	1833967	16033213	43095770	162	14603										
UNC13A	23025	genome.wustl.edu	37	chr19	17767092	17767092	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtaggagtcccggtcccgctCatcctccatgtcggagccct	11	16	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:17767092C>G	ENST00000519716.2	-	10	882	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	UNC13A_ENST00000550896.1_Missense_Mutation_p.E295Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E295Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E295Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.E295Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.E383Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	295					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGGTCCCGCTCATCCTCCATG	0.637																																																	0													20	24	23					19																	17767092		2050	4146	6196	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.883G>C	19.37:g.17767092C>G	ENSP00000429562:p.Glu295Gln		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E383Q	ENST00000519716.2	37	c.1147	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951031	0.34471	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.81821	-1.53;-1.54;-1.53;-1.4;-1.39;-1.52	4.72	3.68	0.42216	.	0.526139	0.16009	U	0.233894	T	0.66197	0.2765	N	0.08118	0	0.28462	N	0.915824	P	0.51791	0.948	P	0.46975	0.533	T	0.58160	-0.7685	10	0.21014	T	0.42	-20.6862	10.9815	0.47497	0.0:0.9051:0.0:0.0949	.	295	Q9UPW8	UN13A_HUMAN	Q	295;383;295;295;295;295	ENSP00000429562:E295Q;ENSP00000400409:E383Q;ENSP00000252773:E295Q;ENSP00000447236:E295Q;ENSP00000447572:E295Q;ENSP00000446831:E295Q	ENSP00000252773:E295Q	E	-	1	0	UNC13A	17628092	1.000000	0.71417	0.584000	0.28653	0.803000	0.45373	7.540000	0.82074	1.106000	0.41623	0.491000	0.48974	GAG	UNC13A	-	NULL		0.637	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	C	XM_038604		17767092	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	0.996	G	G	17767092	C	G	17767092	3	3	100	1	0	0	0	0	1	0	0	0	17015	835	29	1	4360	1	UNC13A	19	17767092	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	1733879	17767092	41361891	163	14604										
GMIP	51291	genome.wustl.edu	37	chr19	19746372	19746372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gcccattctccagcccgtctCccaggtctgcagggagacag	11	16	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:19746372C>G	ENST00000203556.4	-	15	1549	c.1412G>C	c.(1411-1413)gGa>gCa	p.G471A	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.G445A|GMIP_ENST00000445806.2_Missense_Mutation_p.G442A	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	471					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGCCCGTCTCCCAGGTCTGC	0.672																																																	0													57	57	57					19																	19746372		2203	4300	6503	SO:0001583	missense	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1412G>C	19.37:g.19746372C>G	ENSP00000203556:p.Gly471Ala		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G471A	ENST00000203556.4	37	c.1412	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411710	0.11812	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.21734	2.04;1.99	4.59	1.12	0.20585	.	0.527213	0.15810	N	0.243535	T	0.12603	0.0306	L	0.32530	0.975	0.30526	N	0.767905	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.38607	-0.9653	10	0.07482	T	0.82	-3.6929	9.339	0.38067	0.1539:0.3967:0.4494:0.0	.	442;445;471	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	A	471;442	ENSP00000203556:G471A;ENSP00000397075:G442A	ENSP00000203556:G471A	G	-	2	0	GMIP	19607372	0.003000	0.15002	0.985000	0.45067	0.960000	0.62799	0.023000	0.13533	0.033000	0.15463	-0.225000	0.12378	GGA	GMIP	-	NULL		0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	C	NM_016573		19746372	-1	no_errors	ENST00000203556	ensembl	human	known	70_37	missense	SNP	0.908	G	G	19746372	C	G	19746372	3	3	100	1	0	0	0	0	1	0	0	0	6510	855	30	1	1528	1	GMIP	19	19746372	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	1979280	19746372	39382611	164	14605										
ATP4A	495	genome.wustl.edu	37	chr19	36054415	36054415	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ggacccagctccaccgagtaGagctcatagttctcctggga	11	13	2	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:36054415G>C	ENST00000262623.3	-	2	55	c.27C>G	c.(25-27)ctC>ctG	p.L9L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	9					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCACCGAGTAGAGCTCATAGT	0.632																																																	0													104	111	108					19																	36054415		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.27C>G	19.37:g.36054415G>C			O00738	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.L9	ENST00000262623.3	37	c.27	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_H/K-transp_N		0.632	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	G	NM_000704		36054415	-1	no_errors	ENST00000262623	ensembl	human	known	70_37	silent	SNP	0.836	C	C	36054415	G	C	36054415	2	2	100	1	0	0	0	0	0	0	0	1	1146	929	33	1		1	ATP4A	19	36054415	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	16308043	36054415	23074568	165	14606										
ETV2	2116	genome.wustl.edu	37	chr19	36133941	36133941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgcacccagaagttccatggGgggcgggtgagtgtggggag	20	7	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:36133941G>A	ENST00000403402.1	+	3	535	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	ETV2_ENST00000402764.2_Missense_Mutation_p.G77R|ETV2_ENST00000479824.1_5'UTR|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.G105R			O00321	ETV2_HUMAN	ets variant 2	77					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTTCCATGGGGGGCGGGTGA	0.617																																																	0													17	15	16					19																	36133941		2200	4292	6492	SO:0001583	missense	2116			AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.229G>A	19.37:g.36133941G>A	ENSP00000385369:p.Gly77Arg		A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.G77R	ENST00000403402.1	37	c.229	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	g	22.9	4.347030	0.82022	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.20463	2.07;2.09;2.09	5.06	4.01	0.46588	.	2.325830	0.01310	N	0.010597	T	0.31827	0.0809	L	0.27053	0.805	0.23282	N	0.997981	D;P	0.61697	0.99;0.931	P;P	0.54856	0.687;0.762	T	0.39078	-0.9631	10	0.66056	D	0.02	.	11.6305	0.51171	0.0:0.1779:0.8221:0.0	.	105;77	A6NFN5;B9EIN1	.;.	R	105;77;77;77	ENSP00000368312:G105R;ENSP00000384524:G77R;ENSP00000385369:G77R	ENSP00000368307:G77R	G	+	1	0	ETV2	40825781	1.000000	0.71417	0.548000	0.28192	0.674000	0.39518	2.989000	0.49393	1.346000	0.45694	0.550000	0.68814	GGG	ETV2	-	NULL		0.617	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	HGNC	protein_coding	OTTHUMT00000318848.2	G	XM_209182		36133941	1	no_errors	ENST00000402764	ensembl	human	known	70_37	missense	SNP	0.913	A	A	36133941	G	A	36133941	3	1	100	1	0	0	0	0	1	0	0	0	5290	1232	43	4	239	4	ETV2	19	36133941	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	79526	36133941	22995042	166	14607										
LRFN1	57622	genome.wustl.edu	37	chr19	39804698	39804698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gagctcggctgccacgagccGacgctcagccgcagaatcgt	13	15	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:39804698G>A	ENST00000248668.4	-	1	1278	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	427	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCACGAGCCGACGCTCAGCC	0.687																																																	0													16	23	20					19																	39804698		2034	4147	6181	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1279C>T	19.37:g.39804698G>A	ENSP00000248668:p.Arg427Trp		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R427W	ENST00000248668.4	37	c.1279	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259330	0.59321	.	.	ENSG00000128011	ENST00000248668	T	0.58060	0.36	4.53	0.848	0.18966	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000917	T	0.64227	0.2579	L	0.59436	1.845	0.54753	D	0.999986	D	0.89917	1.0	D	0.74348	0.983	T	0.65651	-0.6116	10	0.72032	D	0.01	.	11.356	0.49615	0.0:0.0:0.2687:0.7313	.	427	Q9P244	LRFN1_HUMAN	W	427	ENSP00000248668:R427W	ENSP00000248668:R427W	R	-	1	2	LRFN1	44496538	0.065000	0.20965	0.997000	0.53966	0.910000	0.53928	0.207000	0.17395	0.429000	0.26202	0.655000	0.94253	CGG	LRFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	G	NM_020862		39804698	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39804698	G	A	39804698	3	1	100	1	0	0	0	0	1	0	0	0	8960	1057	37	1	1044	1	LRFN1	19	39804698	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	3670757	39804698	19324285	167	14608										
ZNF180	7733	genome.wustl.edu	37	chr19	44980766	44980766	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgcacaataagtcgagcactCaagctaaatgtttttccaca	6	10	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:44980766C>G	ENST00000221327.4	-	5	2213	c.1932G>C	c.(1930-1932)ttG>ttC	p.L644F	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.L619F|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.L617F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTCGAGCACTCAAGCTAAATG	0.368																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													140	138	139					19																	44980766		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1932G>C	19.37:g.44980766C>G	ENSP00000221327:p.Leu644Phe		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L644F	ENST00000221327.4	37	c.1932	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	6.294	0.422265	0.11928	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07908	3.15;3.19	5.48	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34046	N	0.004307	T	0.08980	0.0222	N	0.10945	0.07	0.30378	N	0.782245	D;D;D	0.63880	0.993;0.988;0.974	P;P;P	0.58130	0.833;0.686;0.512	T	0.05225	-1.0898	10	0.54805	T	0.06	-2.6506	8.106	0.30885	0.0:0.7454:0.0:0.2546	.	619;643;644	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	F	644;619	ENSP00000221327:L644F;ENSP00000375818:L619F	ENSP00000221327:L644F	L	-	3	2	ZNF180	49672606	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.444000	0.06854	0.783000	0.33636	0.591000	0.81541	TTG	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	C	NM_013256		44980766	-1	no_errors	ENST00000221327	ensembl	human	known	70_37	missense	SNP	0.055	G	G	44980766	C	G	44980766	3	3	100	1	0	0	0	0	1	0	0	0	17778	825	29	1	150	1	ZNF180	19	44980766	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	5176068	44980766	14148217	168	14609										
ZNF83	55769	genome.wustl.edu	37	chr19	53116876	53116876	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcattacatttgtaaggtttCtctccagtatgaattctcca	5	9	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:53116876C>G	ENST00000597597.1	-	2	3195	c.942G>C	c.(940-942)gaG>gaC	p.E314D	ZNF83_ENST00000536937.1_Missense_Mutation_p.E314D|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.E314D|ZNF83_ENST00000391789.4_Missense_Mutation_p.E286D|ZNF83_ENST00000545872.1_Missense_Mutation_p.E314D|ZNF83_ENST00000301096.3_Missense_Mutation_p.E314D|ZNF83_ENST00000544146.1_Missense_Mutation_p.E314D|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTAAGGTTTCTCTCCAGTAT	0.413																																																	0													99	104	102					19																	53116876		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.942G>C	19.37:g.53116876C>G	ENSP00000472619:p.Glu314Asp		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E314D	ENST00000597597.1	37	c.942	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	c	9.139	1.013364	0.19277	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	2.15	1.08	0.20341	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29158	0.0725	L	0.42744	1.35	0.21950	N	0.999452	P;D	0.56521	0.608;0.976	B;P	0.54889	0.156;0.763	T	0.12372	-1.0550	9	0.72032	D	0.01	.	4.1357	0.10169	0.2318:0.6163:0.0:0.1519	.	286;314	P51522-2;P51522	.;ZNF83_HUMAN	D	314;314;314;286;314;314;286	ENSP00000445993:E314D;ENSP00000301096:E314D;ENSP00000445470:E314D;ENSP00000440713:E314D;ENSP00000439681:E314D;ENSP00000375666:E286D	ENSP00000301096:E314D	E	-	3	2	ZNF83	57808688	0.255000	0.24002	0.963000	0.40424	0.174000	0.22865	-0.083000	0.11286	1.194000	0.43101	0.398000	0.26397	GAG	ZNF83	-	pfscan_Znf_C2H2		0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	C	NM_018300		53116876	-1	no_errors	ENST00000301096	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53116876	C	G	53116876	3	3	100	1	0	0	0	0	1	0	0	0	18213	912	32	1	612	1	ZNF83	19	53116876	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8136110	53116876	6012107	169	14610										
TSEN34	79042	genome.wustl.edu	37	chr19	54697142	54697142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cttggaaccagcgtcagaaaGaccctgctcctctgttctcc	8	15	3	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:54697142G>C	ENST00000396383.1	+	5	1169	c.858G>C	c.(856-858)aaG>aaC	p.K286N	CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Missense_Mutation_p.K286N|TSEN34_ENST00000429671.2_Missense_Mutation_p.K286N|TSEN34_ENST00000396388.2_Missense_Mutation_p.K286N			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	286					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGTCAGAAAGACCCTGCTCC	0.607																																					Esophageal Squamous(37;841 964 4869 42824)												0													69	73	72					19																	54697142		2040	4180	6220	SO:0001583	missense	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.858G>C	19.37:g.54697142G>C	ENSP00000379667:p.Lys286Asn		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic	p.K286N	ENST00000396383.1	37	c.858	CCDS42609.1	19	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400155	0.83120	.	.	ENSG00000170892	ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	D;D;D;D	0.88818	-2.43;-2.41;-2.43;-2.43	5.33	4.28	0.50868	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	4.361770	0.00906	N	0.002406	D	0.96790	0.8952	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88832	0.3306	10	0.87932	D	0	.	14.0153	0.64521	0.0799:0.0:0.9201:0.0	.	286;286	E7EQB3;Q9BSV6	.;SEN34_HUMAN	N	286	ENSP00000305524:K286N;ENSP00000397402:K286N;ENSP00000379667:K286N;ENSP00000379671:K286N	ENSP00000305524:K286N	K	+	3	2	TSEN34	59388954	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.246000	0.58740	2.673000	0.90976	0.591000	0.81541	AAG	TSEN34	-	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic		0.607	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN34	HGNC	protein_coding	OTTHUMT00000142200.1	G	NM_024075		54697142	1	no_errors	ENST00000429671	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54697142	G	C	54697142	3	2	100	1	0	0	0	0	1	0	0	0	16644	933	33	1	872	1	TSEN34	19	54697142	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1580266	54697142	4431841	170	14611										
ZNF628	89887	genome.wustl.edu	37	chr19	55995213	55995213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtgggggagctgtggctactGaggcacccaacctgctggtt	16	10	0	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:55995213G>C	ENST00000598519.1	+	3	3206	c.2653G>C	c.(2653-2655)Gag>Cag	p.E885Q	ZNF628_ENST00000391718.2_Missense_Mutation_p.E881Q|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	885					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGTGGCTACTGAGGCACCCAA	0.682																																																	0													24	28	26					19																	55995213		2203	4298	6501	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2653G>C	19.37:g.55995213G>C	ENSP00000469591:p.Glu885Gln		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E885Q	ENST00000598519.1	37	c.2653	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287832	0.23478	.	.	ENSG00000197483	ENST00000391718	T	0.10382	2.88	3.41	3.41	0.39046	.	0.000000	0.47455	U	0.000233	T	0.09818	0.0241	N	0.19112	0.55	0.19945	N	0.999942	D	0.54772	0.968	P	0.47786	0.557	T	0.10314	-1.0635	10	0.87932	D	0	.	10.5238	0.44936	0.0:0.0:1.0:0.0	.	881	Q5EBL2	ZN628_HUMAN	Q	881	ENSP00000375598:E881Q	ENSP00000375598:E881Q	E	+	1	0	ZNF628	60687025	0.119000	0.22226	0.859000	0.33776	0.187000	0.23431	2.012000	0.40932	1.916000	0.55485	0.442000	0.29010	GAG	ZNF628	-	NULL		0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	G	XM_058964		55995213	1	no_errors	ENST00000598519	ensembl	human	known	70_37	missense	SNP	0.728	C	C	55995213	G	C	55995213	3	2	100	1	0	0	0	0	1	0	0	0	18082	1291	45	1	2643	1	ZNF628	19	55995213	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	1298071	55995213	3133770	171	14612										
PTPRA	5786	genome.wustl.edu	37	chr20	2945628	2945628	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctttctgtggcaccaacattCagcccaaatataactctggg	7	12	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:2945628C>T	ENST00000216877.6	+	5	595	c.195C>T	c.(193-195)ttC>ttT	p.F65F	PTPRA_ENST00000380393.3_Silent_p.F65F|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Silent_p.F76F|PTPRA_ENST00000399903.2_Silent_p.F65F|PTPRA_ENST00000356147.3_Silent_p.F65F|PTPRA_ENST00000318266.5_Silent_p.F65F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	65					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACCAACATTCAGCCCAAATA	0.413																																																	0													106	99	101					20																	2945628		2203	4300	6503	SO:0001819	synonymous_variant	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.195C>T	20.37:g.2945628C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.F76	ENST00000216877.6	37	c.228	CCDS13039.1	20																																																																																			PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.413	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	C			2945628	1	no_errors	ENST00000425918	ensembl	human	known	70_37	silent	SNP	0.944	T	T	2945628	C	T	2945628	2	4	100	1	0	0	0	0	0	0	0	1	12825	825	29	1		1	PTPRA	20	2945628	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		2945628	60079892	172	14613										
DDRGK1	65992	genome.wustl.edu	37	chr20	3185217	3185217	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ccccggctgcgagtcaggaaGaggataaagccgactagcag	14	11	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:3185217G>C	ENST00000354488.3	-	1	114	c.57C>G	c.(55-57)ctC>ctG	p.L19L	DDRGK1_ENST00000380201.2_Silent_p.L19L	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	19						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GAGTCAGGAAGAGGATAAAGC	0.637																																																	0													20	21	20					20																	3185217		2172	4263	6435	SO:0001819	synonymous_variant	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.57C>G	20.37:g.3185217G>C			A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	pfam_DDRGK_dom-contain	p.L19	ENST00000354488.3	37	c.57	CCDS13050.1	20																																																																																			DDRGK1	-	NULL		0.637	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	G	NM_023935		3185217	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	silent	SNP	0.630	C	C	3185217	G	C	3185217	2	2	100	1	0	0	0	0	0	0	0	1	4343	929	33	1		1	DDRGK1	20	3185217	Silent	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	239589	3185217	59840303	173	14614										
PCNA	5111	genome.wustl.edu	37	chr20	5098124	5098124	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	aaaactacttacagcttcctCctctttatcgacattacttg	3	12	1	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:5098124C>A	ENST00000379160.3	-	5	816	c.574G>T	c.(574-576)Gag>Tag	p.E192*	PCNA_ENST00000379143.5_Nonsense_Mutation_p.E192*	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	192					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACAGCTTCCTCCTCTTTATCG	0.303								DNA polymerases (catalytic subunits)																																									0													52	54	53					20																	5098124		2203	4299	6502	SO:0001587	stop_gained	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.574G>T	20.37:g.5098124C>A	ENSP00000368458:p.Glu192*		B2R897|D3DW02	Nonsense_Mutation	SNP	pfam_Pr_cel_nuc_antig_C,pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig	p.E192*	ENST00000379160.3	37	c.574	CCDS13087.1	20	.	.	.	.	.	.	.	.	.	.	C	39	7.351853	0.98231	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.4	4.47	0.54385	.	0.089937	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-14.6595	12.8447	0.57823	0.0:0.9204:0.0:0.0796	.	.	.	.	X	192	.	ENSP00000368438:E192X	E	-	1	0	PCNA	5046124	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.676000	0.84012	1.293000	0.44690	0.462000	0.41574	GAG	PCNA	-	pfam_Pr_cel_nuc_antig_C,pfam_Rad9/Ddc1,tigrfam_Pr_cel_nuc_antig		0.303	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCNA	HGNC	protein_coding	OTTHUMT00000077852.2	C			5098124	-1	no_errors	ENST00000379143	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	5098124	C	A	5098124	4	1	100	1	0	0	0	0	0	1	0	0	11612	864	30	3	223	3	PCNA	20	5098124	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	1912907	5098124	57927396	174	14615										
XRN2	22803	genome.wustl.edu	37	chr20	21309246	21309246	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ttcaaggaggttcagggcatCaaaagaaggaatggaagcag	14	5	3	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:21309246C>G	ENST00000377191.3	+	4	460	c.365C>G	c.(364-366)tCa>tGa	p.S122*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.S68*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.S46*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	122				SKE -> IKR (in Ref. 1; AAD55138). {ECO:0000305}.	cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTCAGGGCATCAAAAGAAGGA	0.383																																																	0													101	98	99					20																	21309246		2203	4300	6503	SO:0001587	stop_gained	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.365C>G	20.37:g.21309246C>G	ENSP00000366396:p.Ser122*		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.S122*	ENST00000377191.3	37	c.365	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.772498	0.97829	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.3599	19.5251	0.95201	0.0:1.0:0.0:0.0	.	.	.	.	X	122;46;68	.	ENSP00000366396:S122X	S	+	2	0	XRN2	21257246	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.270000	0.78493	2.615000	0.88500	0.591000	0.81541	TCA	XRN2	-	pfam_Put_53exo,pirsf_5_3_exoribonuclease_2		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21309246	1	no_errors	ENST00000377191	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	21309246	C	G	21309246	4	3	100	1	0	0	0	0	0	1	0	0	17491	838	29	1	379	1	XRN2	20	21309246	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	16211122	21309246	41716274	175	14616										
ZHX3	23051	genome.wustl.edu	37	chr20	39831549	39831549	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	ctcagccttcttggtctcctCagcattcacttttttccgtc	5	15	5	0	rs528894752		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:39831549C>T	ENST00000309060.3	-	4	2423	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	ZHX3_ENST00000540170.1_Missense_Mutation_p.E670K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E670K|ZHX3_ENST00000544979.2_Missense_Mutation_p.E670K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E670K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E670K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	670					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTGGTCTCCTCAGCATTCACT	0.507													C|||	1	0.000199681	0	0	5008	,	,		21133	0.001		0	False		,,,				2504	0																0													145	149	147					20																	39831549		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2008G>A	20.37:g.39831549C>T	ENSP00000312222:p.Glu670Lys		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.E670K	ENST00000309060.3	37	c.2008	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444227	0.43429	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.14266	2.74;2.74;2.52	6.06	6.06	0.98353	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.103821	0.64402	D	0.000004	T	0.17280	0.0415	M	0.66939	2.045	0.54753	D	0.999989	B;B;B	0.31153	0.31;0.31;0.068	B;B;B	0.25140	0.039;0.043;0.058	T	0.08785	-1.0705	10	0.10902	T	0.67	-13.2085	19.6125	0.95613	0.0:1.0:0.0:0.0	.	670;670;670	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	K	670;670;670;670;448	ENSP00000362360:E670K;ENSP00000442290:E670K;ENSP00000443783:E670K	ENSP00000312222:E670K	E	-	1	0	ZHX3	39264963	1.000000	0.71417	0.821000	0.32701	0.797000	0.45037	5.493000	0.66899	2.879000	0.98667	0.650000	0.86243	GAG	ZHX3	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831549	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	0.998	T	T	39831549	C	T	39831549	3	4	100	1	0	0	0	0	1	0	0	0	17707	835	29	1	870	1	ZHX3	20	39831549	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	18522303	39831549	23193971	176	14617										
ZHX3	23051	genome.wustl.edu	37	chr20	39831588	39831588	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tctctctgaaaaccagctatCaatttctcgtcgggtcattt	6	11	5	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:39831588C>T	ENST00000309060.3	-	4	2384	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	ZHX3_ENST00000540170.1_Missense_Mutation_p.D657N|ZHX3_ENST00000432768.2_Missense_Mutation_p.D657N|ZHX3_ENST00000544979.2_Missense_Mutation_p.D657N|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.D657N|ZHX3_ENST00000559234.1_Missense_Mutation_p.D657N			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	657					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AACCAGCTATCAATTTCTCGT	0.502																																																	0													154	166	162					20																	39831588		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1969G>A	20.37:g.39831588C>T	ENSP00000312222:p.Asp657Asn		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.D657N	ENST00000309060.3	37	c.1969	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735091	0.69189	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	D;D;D	0.96041	-3.89;-3.89;-3.89	6.06	6.06	0.98353	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.047732	0.85682	D	0.000000	D	0.95822	0.8640	N	0.20845	0.615	0.50632	D	0.999889	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.992;1.0	D	0.95564	0.8632	10	0.44086	T	0.13	-23.9875	20.2348	0.98355	0.0:1.0:0.0:0.0	.	657;657;657	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	N	657;657;657;657;435	ENSP00000362360:D657N;ENSP00000442290:D657N;ENSP00000443783:D657N	ENSP00000312222:D657N	D	-	1	0	ZHX3	39265002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.824000	0.55723	2.879000	0.98667	0.650000	0.86243	GAT	ZHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.502	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831588	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39831588	C	T	39831588	3	4	100	1	0	0	0	0	1	0	0	0	17707	826	29	1	909	1	ZHX3	20	39831588	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	39	39831588	23193932	177	14618										
PRIC285	85441	genome.wustl.edu	37	chr20	62203573	62203573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cgaggatgcgcagtggttctCgaaggcctcctgagagtggc	16	10	1	1			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:62203573C>T	ENST00000467148.1	-	1	235	c.166G>A	c.(166-168)Gag>Aag	p.E56K	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	56					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAGTGGTTCTCGAAGGCCTCC	0.697																																																	0													31	25	27					20																	62203573		2185	4293	6478	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.166G>A	20.37:g.62203573C>T	ENSP00000417401:p.Glu56Lys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E56K	ENST00000467148.1	37	c.166	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027295	0.75390	.	.	ENSG00000130589	ENST00000467148	T	0.02177	4.41	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);	0.590442	0.17016	N	0.190299	T	0.06735	0.0172	L	0.46157	1.445	0.29196	N	0.875525	P;D	0.69078	0.953;0.997	P;P	0.54664	0.535;0.758	T	0.03576	-1.1023	10	0.66056	D	0.02	-14.8948	16.3882	0.83523	0.0:1.0:0.0:0.0	.	56;56	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	K	56	ENSP00000417401:E56K	ENSP00000417401:E56K	E	-	1	0	RP4-697K14.7	61674017	0.849000	0.29639	0.989000	0.46669	0.887000	0.51463	1.636000	0.37144	1.863000	0.54032	0.655000	0.94253	GAG	HELZ2	-	NULL		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62203573	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.994	T	T	62203573	C	T	62203573	3	4	100	1	0	0	0	0	1	0	0	0	12512	893	31	1	7882	1	PRIC285	20	62203573	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	22371985	62203573	821947	178	14619										
MORC3	23515	genome.wustl.edu	37	chr21	37741363	37741363	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gagtagtcagtttgaaaattCagtttataaaggtgatgatg	11	2	2	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr21:37741363C>T	ENST00000400485.1	+	15	1773	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	566					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTGAAAATTCAGTTTATAAA	0.333																																																	0													86	77	80					21																	37741363		1877	4117	5994	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1697C>T	21.37:g.37741363C>T	ENSP00000383333:p.Ser566Leu		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S566L	ENST00000400485.1	37	c.1697	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336390	0.41398	.	.	ENSG00000159256	ENST00000400485	T	0.15017	2.46	4.44	4.44	0.53790	.	0.807059	0.10998	N	0.610818	T	0.12817	0.0311	L	0.27053	0.805	0.26782	N	0.969579	B	0.02656	0.0	B	0.04013	0.001	T	0.08889	-1.0700	10	0.28530	T	0.3	-3.8638	10.3621	0.44001	0.1322:0.6641:0.2037:0.0	.	566	Q14149	MORC3_HUMAN	L	566	ENSP00000383333:S566L	ENSP00000383333:S566L	S	+	2	0	MORC3	36663233	0.615000	0.27026	0.938000	0.37757	0.986000	0.74619	1.088000	0.30877	2.417000	0.82017	0.491000	0.48974	TCA	MORC3	-	NULL		0.333	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37741363	1	no_errors	ENST00000400485	ensembl	human	known	70_37	missense	SNP	0.728	T	T	37741363	C	T	37741363	3	4	100	1	0	0	0	0	1	0	0	0	9726	838	29	1	1755	1	MORC3	21	37741363	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		37741363	10388532	179	14620										
MCM3AP	8888	genome.wustl.edu	37	chr21	47700456	47700456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	agccatgtctttatgcaaacTtttccccttctttctagcca	4	13	3	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr21:47700456T>G	ENST00000397708.1	-	4	1731	c.1477A>C	c.(1477-1479)Agt>Cgt	p.S493R	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S493R			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	493	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTATGCAAACTTTTCCCCTTC	0.348																																																	0													73	79	77					21																	47700456		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1477A>C	21.37:g.47700456T>G	ENSP00000380820:p.Ser493Arg		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.S493R	ENST00000397708.1	37	c.1477	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	T	8.275	0.814139	0.16537	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03330	3.97;3.97	5.32	-0.756	0.11057	.	0.990290	0.08253	N	0.974326	T	0.02533	0.0077	N	0.14661	0.345	0.20307	N	0.999916	B	0.22683	0.073	B	0.23716	0.048	T	0.50074	-0.8870	10	0.16420	T	0.52	-0.8414	9.4842	0.38919	0.0:0.5912:0.0:0.4088	.	493	O60318	MCM3A_HUMAN	R	493	ENSP00000380820:S493R;ENSP00000291688:S493R	ENSP00000291688:S493R	S	-	1	0	MCM3AP	46524884	0.000000	0.05858	0.809000	0.32408	0.967000	0.64934	-0.265000	0.08644	-0.184000	0.10567	-0.462000	0.05337	AGT	MCM3AP	-	NULL		0.348	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	T	NM_003906		47700456	-1	no_errors	ENST00000291688	ensembl	human	known	70_37	missense	SNP	0.038	G	G	47700456	T	G	47700456	3	3	100	1	0	0	0	0	1	0	0	0	9411	1609	56	5	4569	5	MCM3AP	21	47700456	Missense_Mutation	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	9959093	47700456	429439	180	14621										
SMTN	6525	genome.wustl.edu	37	chr22	31484503	31484503	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	catgatgtctctgcagctctCagcagcgggaagctgagcag	13	11	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:31484503C>T	ENST00000347557.2	+	4	423	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	SMTN_ENST00000358743.1_Nonsense_Mutation_p.Q69*|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000333137.7_Nonsense_Mutation_p.Q69*	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	69					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTGCAGCTCTCAGCAGCGGGA	0.602																																																	0													69	73	71					22																	31484503		2203	4300	6503	SO:0001587	stop_gained	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.205C>T	22.37:g.31484503C>T	ENSP00000328635:p.Gln69*		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Nonsense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Q69*	ENST00000347557.2	37	c.205	CCDS13886.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.66|18.66	3.672117|3.672117	0.67928|0.67928	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	.|T	.|0.51325	.|0.71	4.79|4.79	-0.255|-0.255	0.12988|0.12988	.|.	0.709587|.	0.11626|.	N|.	0.545310|.	.|T	.|0.55878	.|0.1948	.|.	.|.	.|.	0.37089|0.37089	D|D	0.899351|0.899351	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63726	.|-0.6572	.|6	0.40728|0.87932	T|D	0.16|0	-4.4586|-4.4586	11.2818|11.2818	0.49199|0.49199	0.2177:0.3355:0.4468:0.0|0.2177:0.3355:0.4468:0.0	.|.	.|.	.|.	.|.	X|L	123;123;69;69;69;69;61;61|123	.|ENSP00000409925:S123L	ENSP00000329393:Q69X|ENSP00000409925:S123L	Q|S	+|+	1|2	0|0	SMTN|SMTN	29814503|29814503	0.177000|0.177000	0.23109|0.23109	0.761000|0.761000	0.31378|0.31378	0.930000|0.930000	0.56654|0.56654	0.395000|0.395000	0.20850|0.20850	-0.111000|-0.111000	0.12001|0.12001	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SMTN	-	pfam_Smoothelin		0.602	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	C	NM_134270		31484503	1	no_errors	ENST00000347557	ensembl	human	known	70_37	nonsense	SNP	0.605	T	T	31484503	C	T	31484503	4	4	100	1	0	0	0	0	0	1	0	0	14844	827	29	1	215	1	SMTN	22	31484503	Nonsense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09		31484503	19820063	181	14622										
SMCR7L	54471	genome.wustl.edu	37	chr22	39910184	39910184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	caggccttgaggggacttatCagctacttagaggctggagt	14	8	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:39910184C>G	ENST00000325301.2	+	6	1672	c.1248C>G	c.(1246-1248)atC>atG	p.I416M	MIEF1_ENST00000402881.1_Missense_Mutation_p.I416M|MIEF1_ENST00000404569.1_Missense_Mutation_p.I416M	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	416					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GGGGACTTATCAGCTACTTAG	0.542											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96	96	96					22																	39910184		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1248C>G	22.37:g.39910184C>G	ENSP00000327124:p.Ile416Met	889	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.I416M	ENST00000325301.2	37	c.1248	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467428	0.63625	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.07908	3.15;3.15;3.15	6.07	2.44	0.29823	.	0.048019	0.85682	D	0.000000	T	0.12518	0.0304	L	0.29908	0.895	0.40105	D	0.976417	P;D	0.64830	0.918;0.994	P;P	0.60541	0.714;0.876	T	0.05649	-1.0872	10	0.48119	T	0.1	-23.5704	8.0692	0.30678	0.0:0.6675:0.119:0.2135	.	416;416	Q9NQG6;B0QY95	MID51_HUMAN;.	M	416	ENSP00000385110:I416M;ENSP00000327124:I416M;ENSP00000385191:I416M	ENSP00000327124:I416M	I	+	3	3	SMCR7L	38240130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.770000	0.38532	0.894000	0.36317	0.655000	0.94253	ATC	SMCR7L	-	NULL		0.542	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	C	NM_019008		39910184	1	no_errors	ENST00000325301	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39910184	C	G	39910184	3	3	100	1	0	0	0	0	1	0	0	0	14821	816	29	1	1262	1	SMCR7L	22	39910184	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	8425681	39910184	11394382	182	14623										
HDHD1A	8226	genome.wustl.edu	37	chrX	7023850	7023850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atagcgattacatatttcttGaaacaccactgaatacagcc	5	10	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:7023850G>C	ENST00000381077.5	-	2	167	c.91C>G	c.(91-93)Caa>Gaa	p.Q31E	HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Missense_Mutation_p.Q31E|HDHD1_ENST00000424830.2_Missense_Mutation_p.Q54E|HDHD1_ENST00000540122.1_Missense_Mutation_p.Q31E	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	31					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CATATTTCTTGAAACACCACT	0.388																																																	0													48	40	43					X																	7023850		1842	4080	5922	SO:0001583	missense	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.91C>G	X.37:g.7023850G>C	ENSP00000370467:p.Gln31Glu		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.Q54E	ENST00000381077.5	37	c.160	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	g	2.006	-0.428364	0.04701	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.30182	3.49;1.54;3.57;3.49;3.49	4.01	2.11	0.27256	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.172522	0.51477	N	0.000081	T	0.19005	0.0456	N	0.21508	0.67	0.44462	D	0.997396	B;B;B;B;B	0.26120	0.142;0.003;0.002;0.002;0.001	B;B;B;B;B	0.26094	0.066;0.003;0.009;0.007;0.007	T	0.05566	-1.0877	10	0.13470	T	0.59	-17.2522	12.7462	0.57283	0.0:0.5099:0.4901:0.0	.	31;31;54;31;31	Q08623-3;Q08623-2;E9PAV8;E7EVH9;Q08623	.;.;.;.;HDHD1_HUMAN	E	31;47;31;54;31;31	ENSP00000370467:Q31E;ENSP00000406260:Q31E;ENSP00000396452:Q54E;ENSP00000441208:Q31E;ENSP00000430995:Q31E	ENSP00000370467:Q31E	Q	-	1	0	HDHD1	7033850	1.000000	0.71417	0.005000	0.12908	0.863000	0.49368	2.298000	0.43602	0.068000	0.16574	0.597000	0.82753	CAA	HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom		0.388	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		7023850	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	missense	SNP	0.992	C	C	7023850	G	C	7023850	3	2	100	1	0	0	0	0	1	0	0	0	7042	1299	45	1	728	1	HDHD1A	23	7023850	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09		7023850	148246710	183	14624										
RLIM	51132	genome.wustl.edu	37	chrX	73812025	73812025	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	atggtactgacataggttctCacacctgcccgctcagaacg	9	13	2	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:73812025C>G	ENST00000332687.6	-	4	1343	c.1125G>C	c.(1123-1125)gtG>gtC	p.V375V	RLIM_ENST00000349225.2_Silent_p.V375V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	375					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATAGGTTCTCACACCTGCCC	0.438																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													122	109	113					X																	73812025		2203	4300	6503	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1125G>C	X.37:g.73812025C>G			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V375	ENST00000332687.6	37	c.1125	CCDS14427.1	X																																																																																			RLIM	-	NULL		0.438	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	C	NM_016120		73812025	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	silent	SNP	0.999	G	G	73812025	C	G	73812025	2	3	100	1	0	0	0	0	0	0	0	1	13420	813	29	1		1	RLIM	23	73812025	Silent	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	66788175	73812025	81458535	184	14625										
ATRX	546	genome.wustl.edu	37	chrX	76874434	76874434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gtaaattttccttgataaaaTtaaccatacaatgatctaag	4	6	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:76874434T>A	ENST00000373344.5	-	21	5502	c.5288A>T	c.(5287-5289)aAt>aTt	p.N1763I	ATRX_ENST00000395603.3_Missense_Mutation_p.N1725I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1763	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTGATAAAATTAACCATACA	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											45	41	43					X																	76874434		2203	4292	6495	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5288A>T	X.37:g.76874434T>A	ENSP00000362441:p.Asn1763Ile		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1763I	ENST00000373344.5	37	c.5288	CCDS14434.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.129046|4.129046	0.77549|0.77549	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.94232	.|-3.38;-3.38	5.5|5.5	5.5|5.5	0.81552|0.81552	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97673|0.97673	0.9237|0.9237	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.97110	.|0.992;1.0	D|D	0.98766|0.98766	1.0726|1.0726	5|10	.|0.87932	.|D	.|0	-11.1685|-11.1685	14.5783|14.5783	0.68265|0.68265	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1725;1763	.|P46100-4;P46100	.|.;ATRX_HUMAN	F|I	52|1763;1725	.|ENSP00000362441:N1763I;ENSP00000378967:N1725I	.|ENSP00000362441:N1763I	I|N	-|-	1|2	0|0	ATRX|ATRX	76761090|76761090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.669000|7.669000	0.83911|0.83911	1.823000|1.823000	0.53134|0.53134	0.486000|0.486000	0.48141|0.48141	ATT|AAT	ATRX	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.303	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	T	NM_000489		76874434	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76874434	T	A	76874434	3	1	100	1	0	0	0	0	1	0	0	0	1209	1493	52	5	2250	5	ATRX	23	76874434	Missense_Mutation	SNP	T	TCGA-EK-A2PL-01A-11D-A18J-09	3062409	76874434	78396126	185	14626										
ZNF711	7552	genome.wustl.edu	37	chrX	84526761	84526761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tccacacaggtgtgaattctGcaagaagggattccgaagac	11	9	1	3			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:84526761G>A	ENST00000373165.3	+	9	2519	c.2213G>A	c.(2212-2214)tGc>tAc	p.C738Y	ZNF711_ENST00000395402.1_Missense_Mutation_p.C746Y|ZNF711_ENST00000542798.1_Missense_Mutation_p.C580Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.C784Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.C738Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	738					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTGAATTCTGCAAGAAGGGA	0.363																																																	0													58	54	55					X																	84526761		2203	4294	6497	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2213G>A	X.37:g.84526761G>A	ENSP00000362260:p.Cys738Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C746Y	ENST00000373165.3	37	c.2237	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252909	0.59212	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.75	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.48286	D	0.000198	T	0.66458	0.2791	M	0.93898	3.47	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.81914	0.992;0.995	T	0.78008	-0.2372	10	0.87932	D	0	-3.6465	17.2601	0.87067	0.0:0.0:1.0:0.0	.	784;738	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	746;738;738;784;580	ENSP00000378798:C746Y;ENSP00000362260:C738Y;ENSP00000276123:C738Y;ENSP00000353922:C784Y;ENSP00000442071:C580Y	ENSP00000276123:C738Y	C	+	2	0	ZNF711	84413417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.086000	0.62901	0.506000	0.49869	TGC	ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84526761	1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84526761	G	A	84526761	3	1	100	1	0	0	0	0	1	0	0	0	18146	1319	46	4	2239	4	ZNF711	23	84526761	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	7652327	84526761	70743799	186	14627										
GUCY2F	2986	genome.wustl.edu	37	chrX	108696910	108696910	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tgtccaggattacatattctGaaattccatttccatttgaa	5	8	1	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:108696910G>A	ENST00000218006.2	-	4	1502	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	404					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TACATATTCTGAAATTCCATT	0.478																																																	0													150	110	124					X																	108696910		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1211C>T	X.37:g.108696910G>A	ENSP00000218006:p.Ser404Leu		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.S404L	ENST00000218006.2	37	c.1211	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	6.057	0.378804	0.11466	.	.	ENSG00000101890	ENST00000218006	D	0.82711	-1.64	3.97	3.97	0.46021	Extracellular ligand-binding receptor (1);	0.430726	0.23426	N	0.048309	T	0.65312	0.2679	N	0.10809	0.05	0.26665	N	0.971833	B	0.02656	0.0	B	0.04013	0.001	T	0.44922	-0.9296	10	0.10377	T	0.69	.	12.9747	0.58531	0.0:0.0:1.0:0.0	.	404	P51841	GUC2F_HUMAN	L	404	ENSP00000218006:S404L	ENSP00000218006:S404L	S	-	2	0	GUCY2F	108583566	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.140000	0.42159	2.220000	0.72140	0.506000	0.49869	TCA	GUCY2F	-	pfam_ANF_lig-bd_rcpt		0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108696910	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	0.988	A	A	108696910	G	A	108696910	3	1	100	1	0	0	0	0	1	0	0	0	6918	1294	45	1	2179	1	GUCY2F	23	108696910	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	24170149	108696910	46573650	187	14628										
ODZ1	10178	genome.wustl.edu	37	chrX	123514396	123514396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	gatatttttgttacctcctgCctatttcgctctgtctcata	5	11	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:123514396C>G	ENST00000371130.3	-	31	8231	c.8168G>C	c.(8167-8169)gGc>gCc	p.G2723A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.G2730A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2723					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTACCTCCTGCCTATTTCGCT	0.358																																																	0													90	84	86					X																	123514396		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8168G>C	X.37:g.123514396C>G	ENSP00000360171:p.Gly2723Ala		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.G2730A	ENST00000371130.3	37	c.8189	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752757	0.69648	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86956	-2.19;-2.15	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93520	0.7932	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93885	0.7174	10	0.72032	D	0.01	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	2729;2730;2723	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2723;2730	ENSP00000360171:G2723A;ENSP00000403954:G2730A	ENSP00000360171:G2723A	G	-	2	0	ODZ1	123342077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GGC	TENM1	-	NULL		0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123514396	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123514396	C	G	123514396	3	3	100	1	0	0	0	0	1	0	0	0	10858	739	26	4	13	4	ODZ1	23	123514396	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	14817486	123514396	31756164	188	14629										
ODZ1	10178	genome.wustl.edu	37	chrX	123556368	123556368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	cacctggcagtgaatggggcGtcctgcgatgatccgaacac	13	12	0	2			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:123556368G>A	ENST00000371130.3	-	23	4267	c.4204C>T	c.(4204-4206)Cgc>Tgc	p.R1402C	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.R1409C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1402					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGAATGGGGCGTCCTGCGATG	0.493																																																	0													122	99	107					X																	123556368		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4204C>T	X.37:g.123556368G>A	ENSP00000360171:p.Arg1402Cys		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R1409C	ENST00000371130.3	37	c.4225	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384132	0.82792	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90444	-2.67;-2.67	5.68	3.85	0.44370	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.79784	0.993;0.897;0.949	D	0.93863	0.7155	10	0.87932	D	0	.	10.2806	0.43537	0.0724:0.0:0.7931:0.1345	.	1408;1409;1402	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	1402;1409	ENSP00000360171:R1402C;ENSP00000403954:R1409C	ENSP00000360171:R1402C	R	-	1	0	ODZ1	123384049	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.494000	0.73661	1.168000	0.42723	0.594000	0.82650	CGC	TENM1	-	NULL		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123556368	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123556368	G	A	123556368	3	1	100	1	0	0	0	0	1	0	0	0	10858	1145	40	2	4009	2	ODZ1	23	123556368	Missense_Mutation	SNP	G	TCGA-EK-A2PL-01A-11D-A18J-09	41972	123556368	31714192	189	14630										
ATP2B3	492	genome.wustl.edu	37	chrX	152825250	152825250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518518518518518	98	2.4686322754326e-39	4.19575960465487	4.7975658831035	3.67468343672984	0.477365634328447	0.713852813852814	75	tcatggacacatttgcctctCtggccctggcgacggagcca	11	14	2	0			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:152825250C>G	ENST00000349466.2	+	17	3015	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L883V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L897V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L897V|ATP2B3_ENST00000370186.1_Missense_Mutation_p.L883V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L883V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	897					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGCCTCTCTGGCCCTGGC	0.592																																																	0													96	81	86					X																	152825250		2203	4300	6503	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2689C>G	X.37:g.152825250C>G	ENSP00000343886:p.Leu897Val		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L897V	ENST00000349466.2	37	c.2689	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191532	0.58017	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.98626	0.9540	H	0.96430	3.82	0.53688	D	0.999979	D;D	0.56035	0.974;0.967	P;P	0.62435	0.902;0.887	D	0.99774	1.1025	10	0.87932	D	0	-18.1435	16.7389	0.85454	0.0:1.0:0.0:0.0	.	897;897	Q16720;Q16720-2	AT2B3_HUMAN;.	V	883;897;883;897;897;883	ENSP00000359205:L883V;ENSP00000343886:L897V;ENSP00000377425:L883V;ENSP00000352062:L897V;ENSP00000263519:L897V;ENSP00000359200:L883V	ENSP00000263519:L897V	L	+	1	2	ATP2B3	152478444	0.972000	0.33761	0.960000	0.40013	0.927000	0.56198	2.466000	0.45084	2.212000	0.71576	0.529000	0.55759	CTG	ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152825250	1	no_errors	ENST00000263519	ensembl	human	known	70_37	missense	SNP	0.998	G	G	152825250	C	G	152825250	3	3	100	1	0	0	0	0	1	0	0	0	1142	912	32	1	2751	1	ATP2B3	23	152825250	Missense_Mutation	SNP	C	TCGA-EK-A2PL-01A-11D-A18J-09	29268882	152825250	2445310	190	14631										
NOL9	79707	genome.wustl.edu	37	chr1	6614166	6614166	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctaccggcgccccccacctaCctgctcgaccggcagcagca	9	21	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:6614166C>T	ENST00000377705.5	-	1	429		c.e1+1		TAS1R1_ENST00000333172.6_5'Flank|TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000351136.3_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9						maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACCTACCTGCTCGACC	0.736																																																	0													3	3	3					1																	6614166		1559	3158	4717	SO:0001630	splice_region_variant	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.396+1G>A	1.37:g.6614166C>T			Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Splice_Site	SNP	-	e1+1	ENST00000377705.5	37	c.396+1	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548269	0.45383	.	.	ENSG00000162408	ENST00000377705	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6842	0.51476	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOL9	6536753	0.976000	0.34144	0.669000	0.29828	0.033000	0.12548	1.526000	0.35964	2.188000	0.69820	0.511000	0.50034	.	NOL9	-	-		0.736	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	C	NM_024654	Intron	6614166	-1	no_errors	ENST00000377705	ensembl	human	known	70_37	splice_site	SNP	0.751	T	T	6614166	C	T	6614166	5	4	101	1	0	0	0	0	0	0	1	0	10552	521	18	4	1759	4	NOL9	1	6614166	Splice_Site	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		6614166	242636455	1	14632										
KIF1B	23095	genome.wustl.edu	37	chr1	10399865	10399865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgaagcattctccacggagcCcctcaaaaacaatggcagag	9	12	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:10399865C>T	ENST00000377086.1	+	32	3663	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	KIF1B_ENST00000377081.1_Missense_Mutation_p.P1154L|KIF1B_ENST00000263934.6_Missense_Mutation_p.P1108L			O60333	KIF1B_HUMAN	kinesin family member 1B	1154					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACGGAGCCCCTCAAAAAC	0.393																																																	0													87	82	84					1																	10399865		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3461C>T	1.37:g.10399865C>T	ENSP00000366290:p.Pro1154Leu		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1108L	ENST00000377086.1	37	c.3323		1	.	.	.	.	.	.	.	.	.	.	C	34	5.293301	0.95546	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.85088	-1.94;-1.94;-1.94	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.946;0.994	D	0.93642	0.6965	10	0.72032	D	0.01	.	18.4716	0.90777	0.0:1.0:0.0:0.0	.	1140;1114;1154;1128;1154;1108	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1154;1108;1154;1154	ENSP00000263934:P1108L;ENSP00000366290:P1154L;ENSP00000366284:P1154L	ENSP00000263934:P1108L	P	+	2	0	KIF1B	10322452	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.363000	0.80096	0.650000	0.86243	CCC	KIF1B	-	NULL		0.393	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	C			10399865	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10399865	C	T	10399865	3	4	101	1	0	0	0	0	1	0	0	0	8304	623	22	4	4926	4	KIF1B	1	10399865	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3785699	10399865	238850756	2	14633										
WNT4	54361	genome.wustl.edu	37	chr1	22448032	22448032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	actgcaaaggccacacctgcCgaagagatggcgtacacgaa	11	12	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:22448032C>T	ENST00000290167.6	-	3	394	c.351G>A	c.(349-351)tcG>tcA	p.S117S	WNT4_ENST00000542383.1_Silent_p.S62S	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	117					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCACACCTGCCGAAGAGATGG	0.657																																																	0													50	50	50					1																	22448032		2203	4300	6503	SO:0001819	synonymous_variant	54361			AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.351G>A	1.37:g.22448032C>T			B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4	p.S117	ENST00000290167.6	37	c.351	CCDS223.1	1																																																																																			WNT4	-	pfam_Wnt,smart_Wnt,prints_Wnt		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT4	HGNC	protein_coding	OTTHUMT00000008088.2	C			22448032	-1	no_errors	ENST00000290167	ensembl	human	known	70_37	silent	SNP	0.948	T	T	22448032	C	T	22448032	2	4	101	1	0	0	0	0	0	0	0	1	17421	639	23	2		2	WNT4	1	22448032	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	12048167	22448032	226802589	3	14634										
EPB41	2035	genome.wustl.edu	37	chr1	29362374	29362374	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtaccatcggattcaaacttCccagttaccgagcagctaag	8	12	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:29362374C>G	ENST00000343067.4	+	10	1529	c.1402C>G	c.(1402-1404)Ccc>Gcc	p.P468A	EPB41_ENST00000373798.1_Missense_Mutation_p.P468A|EPB41_ENST00000373797.1_Missense_Mutation_p.P468A|EPB41_ENST00000373800.3_Missense_Mutation_p.P259A|EPB41_ENST00000398863.2_Missense_Mutation_p.P468A|EPB41_ENST00000356093.2_Missense_Mutation_p.P468A|EPB41_ENST00000347529.3_Missense_Mutation_p.P433A|EPB41_ENST00000349460.4_Missense_Mutation_p.P259A	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	468	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTCAAACTTCCCAGTTACCG	0.343																																																	0													123	119	120					1																	29362374		2203	4300	6503	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1402C>G	1.37:g.29362374C>G	ENSP00000345259:p.Pro468Ala		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.P468A	ENST00000343067.4	37	c.1402	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716095	0.89205	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88969	0.6582	N	0.17082	0.46	0.80722	D	1	P;B;D;P;P;D;D;D;D;D	0.89917	0.854;0.173;0.992;0.717;0.895;0.99;1.0;0.966;0.996;0.995	P;B;P;P;P;P;D;D;D;D	0.87578	0.476;0.132;0.903;0.519;0.659;0.844;0.998;0.91;0.97;0.924	D	0.90894	0.4763	10	0.87932	D	0	.	18.5585	0.91093	0.0:1.0:0.0:0.0	.	362;468;468;468;468;468;485;433;259;259	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	A	485;468;468;468;362;468;259;259;433;468;468	ENSP00000345259:P468A;ENSP00000348397:P468A;ENSP00000381839:P468A;ENSP00000317597:P259A;ENSP00000362906:P259A;ENSP00000290100:P433A;ENSP00000362904:P468A;ENSP00000362903:P468A	ENSP00000345259:P468A	P	+	1	0	EPB41	29234961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.617000	0.88574	0.655000	0.94253	CCC	EPB41	-	pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain		0.343	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	C	NM_203342		29362374	1	no_errors	ENST00000343067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29362374	C	G	29362374	3	3	101	1	0	0	0	0	1	0	0	0	5163	855	30	1	1436	1	EPB41	1	29362374	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	6914342	29362374	219888247	4	14635										
C1orf113	79729	genome.wustl.edu	37	chr1	36786216	36786216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggaggtgccccccatagaaaGagcctttgcccaaaaaacac	9	13	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:36786216G>C	ENST00000426732.2	+	13	1889	c.1604G>C	c.(1603-1605)aGa>aCa	p.R535T	SH3D21_ENST00000505871.1_Missense_Mutation_p.R540T|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Missense_Mutation_p.R651T|SH3D21_ENST00000312808.4_Missense_Mutation_p.R297T|SH3D21_ENST00000474766.1_3'UTR			A4FU49	SH321_HUMAN	SH3 domain containing 21	535						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCATAGAAAGAGCCTTTGCC	0.557																																																	0													65	75	71					1																	36786216		2203	4300	6503	SO:0001583	missense	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1604G>C	1.37:g.36786216G>C	ENSP00000408613:p.Arg535Thr		B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.R651T	ENST00000426732.2	37	c.1952		1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579064	0.13686	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.43688	1.4;1.83;0.94;1.83	3.19	-5.48	0.02592	.	197.434000	0.00357	N	0.000026	T	0.15782	0.0380	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19418	-1.0306	10	0.13470	T	0.59	.	7.5928	0.28031	0.0:0.5558:0.2953:0.1488	.	540;535	A4FU49-3;A4FU49	.;SH321_HUMAN	T	651;535;297;540	ENSP00000403476:R651T;ENSP00000408613:R535T;ENSP00000321936:R297T;ENSP00000421294:R540T	ENSP00000321936:R297T	R	+	2	0	SH3D21	36558803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.900000	0.01599	-1.158000	0.02811	-1.764000	0.00666	AGA	SH3D21	-	NULL		0.557	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		G	NM_024676		36786216	1	no_errors	ENST00000453908	ensembl	human	known	70_37	missense	SNP	0.000	C	C	36786216	G	C	36786216	3	2	101	1	0	0	0	0	1	0	0	0	1991	942	33	1	2006	1	C1orf113	1	36786216	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7423842	36786216	212464405	5	14636										
KIAA0467	23334	genome.wustl.edu	37	chr1	43898052	43898052	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgggtcccatggggagccttCttcagcggcctgggcttggc	16	12	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:43898052C>G	ENST00000562955.1	+	36	5213	c.5213C>G	c.(5212-5214)tCt>tGt	p.S1738C	SZT2_ENST00000372442.1_Missense_Mutation_p.S896C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1795					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGGAGCCTTCTTCAGCGGCC	0.612																																																	0													99	111	107					1																	43898052		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5213C>G	1.37:g.43898052C>G	ENSP00000457168:p.Ser1738Cys		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.S1738C	ENST00000562955.1	37	c.5213	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485859	0.26686	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.47	4.56	0.56223	.	0.541895	0.18561	N	0.137607	T	0.34658	0.0905	N	0.22421	0.69	0.09310	N	1	B	0.24963	0.115	B	0.36378	0.223	T	0.37663	-0.9696	9	0.56958	D	0.05	.	10.5328	0.44986	0.0:0.9103:0.0:0.0897	.	1738	Q5T011-5	.	C	896	.	ENSP00000361519:S896C	S	+	2	0	SZT2	43670639	0.131000	0.22433	0.055000	0.19348	0.546000	0.35178	1.511000	0.35801	1.456000	0.47831	0.655000	0.94253	TCT	SZT2	-	NULL		0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	C	NM_015284		43898052	1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.205	G	G	43898052	C	G	43898052	3	3	101	1	0	0	0	0	1	0	0	0	8198	913	32	1	2765	1	KIAA0467	1	43898052	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	7111836	43898052	205352569	6	14637										
PKN2	5586	genome.wustl.edu	37	chr1	89273084	89273084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caagcctgatactcctcagtCaggcctagaatatagtggta	9	10	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:89273084C>T	ENST00000370521.3	+	13	2251	c.1892C>T	c.(1891-1893)tCa>tTa	p.S631L	PKN2_ENST00000370513.5_Missense_Mutation_p.S583L|PKN2_ENST00000370505.3_Missense_Mutation_p.S474L|PKN2_ENST00000544045.1_Missense_Mutation_p.S305L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	631					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACTCCTCAGTCAGGCCTAGAA	0.333																																																	0													87	83	85					1																	89273084		1827	4083	5910	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1892C>T	1.37:g.89273084C>T	ENSP00000359552:p.Ser631Leu		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S631L	ENST00000370521.3	37	c.1892	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290821	0.23564	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.69685	-0.42;-0.41;-0.4;-0.41	5.97	5.97	0.96955	.	0.423027	0.17300	U	0.179319	T	0.55433	0.1920	L	0.54323	1.7	0.20703	N	0.999866	B;B;B	0.31383	0.014;0.121;0.321	B;B;B	0.34180	0.011;0.03;0.177	T	0.54675	-0.8258	10	0.41790	T	0.15	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	615;583;631	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	L	631;474;583;305	ENSP00000359552:S631L;ENSP00000359536:S474L;ENSP00000359544:S583L;ENSP00000439643:S305L	ENSP00000359536:S474L	S	+	2	0	PKN2	89045672	0.958000	0.32768	0.015000	0.15790	0.090000	0.18270	1.243000	0.32767	2.833000	0.97629	0.585000	0.79938	TCA	PKN2	-	NULL		0.333	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	C	NM_006256		89273084	1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	0.235	T	T	89273084	C	T	89273084	3	4	101	1	0	0	0	0	1	0	0	0	12004	838	29	1	1942	1	PKN2	1	89273084	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	45375032	89273084	159977537	7	14638										
PKN2	5586	genome.wustl.edu	37	chr1	89273099	89273099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcagtcaggcctagaatataGtggtattcaagaacttgagg	11	6	3	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:89273099G>T	ENST00000370521.3	+	13	2266	c.1907G>T	c.(1906-1908)aGt>aTt	p.S636I	PKN2_ENST00000370513.5_Missense_Mutation_p.S588I|PKN2_ENST00000370505.3_Missense_Mutation_p.S479I|PKN2_ENST00000544045.1_Missense_Mutation_p.S310I	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	636					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTAGAATATAGTGGTATTCAA	0.323																																																	0													90	86	87					1																	89273099		1825	4081	5906	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1907G>T	1.37:g.89273099G>T	ENSP00000359552:p.Ser636Ile		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S636I	ENST00000370521.3	37	c.1907	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117879	0.20877	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.69435	-0.38;-0.39;-0.39;-0.4	5.97	5.04	0.67666	.	0.605248	0.14269	U	0.330306	T	0.40791	0.1131	L	0.41236	1.265	0.20873	N	0.999838	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.28299	-1.0048	10	0.24483	T	0.36	.	16.0411	0.80683	0.0:0.3137:0.6863:0.0	.	620;588;636	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	I	636;479;588;310	ENSP00000359552:S636I;ENSP00000359536:S479I;ENSP00000359544:S588I;ENSP00000439643:S310I	ENSP00000359536:S479I	S	+	2	0	PKN2	89045687	0.487000	0.25988	0.049000	0.19019	0.677000	0.39632	1.262000	0.32992	1.472000	0.48140	0.585000	0.79938	AGT	PKN2	-	NULL		0.323	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	G	NM_006256		89273099	1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	0.512	T	T	89273099	G	T	89273099	3	4	101	1	0	0	0	0	1	0	0	0	12004	1029	36	4	1957	4	PKN2	1	89273099	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	15	89273099	159977522	8	14639										
BTBD8	284697	genome.wustl.edu	37	chr1	92613279	92613279	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgcaaggttttggtctgagaGaagctttgcaaatatacctc	10	7	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:92613279G>T	ENST00000342818.3	+	9	1294	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	353						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGGTCTGAGAGAAGCTTTGCA	0.313																																																	0													111	113	112					1																	92613279		2202	4300	6502	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.1058G>T	1.37:g.92613279G>T	ENSP00000343686:p.Arg353Ile		Q6V9S5	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R353I	ENST00000342818.3	37	c.1058	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004778	0.74932	.	.	ENSG00000189195	ENST00000342818	T	0.66280	-0.2	5.14	4.22	0.49857	.	0.102039	0.43260	D	0.000585	T	0.53786	0.1818	M	0.63843	1.955	0.80722	D	1	D	0.56521	0.976	P	0.49853	0.624	T	0.61476	-0.7055	10	0.72032	D	0.01	-9.2148	9.588	0.39528	0.1699:0.0:0.8301:0.0	.	353	Q5XKL5	BTBD8_HUMAN	I	353	ENSP00000343686:R353I	ENSP00000343686:R353I	R	+	2	0	BTBD8	92385867	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.290000	0.51755	1.302000	0.44855	0.563000	0.77884	AGA	BTBD8	-	NULL		0.313	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	HGNC	protein_coding	OTTHUMT00000028372.1	G	NM_183242		92613279	1	no_errors	ENST00000342818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92613279	G	T	92613279	3	4	101	1	0	0	0	0	1	0	0	0	1550	942	33	3	1092	3	BTBD8	1	92613279	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3340180	92613279	156637342	9	14640										
COL11A1	1301	genome.wustl.edu	37	chr1	103471840	103471840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tttttccaggttttcccgttGgaccagggggaccctggacg	13	11	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:103471840G>A	ENST00000370096.3	-	16	2027	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P456L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P533L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.P584L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	572	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCCCGTTGGACCAGGGGG	0.358																																																	0													49	56	54					1																	103471840		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1715C>T	1.37:g.103471840G>A	ENSP00000359114:p.Pro572Leu		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.P584L	ENST00000370096.3	37	c.1751	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314633	0.40996	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.96685	-3.2;-3.2;-3.2;-4.09	5.5	3.64	0.41730	.	0.194350	0.46145	N	0.000315	D	0.91331	0.7266	M	0.67517	2.055	0.58432	D	0.999991	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	D	0.87986	0.2746	10	0.45353	T	0.12	.	9.807	0.40799	0.2187:0.0:0.7813:0.0	.	456;533;584;572	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	572;584;533;456	ENSP00000359114:P572L;ENSP00000351163:P584L;ENSP00000302551:P533L;ENSP00000426533:P456L	ENSP00000302551:P533L	P	-	2	0	COL11A1	103244428	1.000000	0.71417	0.710000	0.30468	0.885000	0.51271	2.591000	0.46163	0.703000	0.31848	-0.251000	0.11542	CCA	COL11A1	-	pfam_Collagen		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103471840	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	0.782	A	A	103471840	G	A	103471840	3	1	101	1	0	0	0	0	1	0	0	0	3672	1348	47	4	3913	4	COL11A1	1	103471840	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	10858561	103471840	145778781	10	14641										
FNDC7	163479	genome.wustl.edu	37	chr1	109284418	109284418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tttatagagggaagagaaatGaagaatgacaaagtgagccc	12	4	0	6			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:109284418G>A	ENST00000370017.3	+	12	2471	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	FNDC7_ENST00000271311.2_Missense_Mutation_p.E733K	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	732						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAAGAGAAATGAAGAATGACA	0.348																																																	0													85	80	82					1																	109284418		2203	4300	6503	SO:0001583	missense	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2194G>A	1.37:g.109284418G>A	ENSP00000359034:p.Glu732Lys		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E733K	ENST00000370017.3	37	c.2197	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	G	8.922	0.961357	0.18583	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.26067	2.02;1.76	4.42	1.44	0.22558	.	1.490600	0.03941	N	0.286838	T	0.04227	0.0117	N	0.08118	0	0.22330	N	0.999195	B;B	0.14012	0.001;0.009	B;B	0.06405	0.002;0.002	T	0.31641	-0.9936	10	0.32370	T	0.25	1.5606	6.3705	0.21479	0.1668:0.1631:0.67:0.0	.	733;732	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	K	732;733	ENSP00000359034:E732K;ENSP00000271311:E733K	ENSP00000271311:E733K	E	+	1	0	FNDC7	109085941	1.000000	0.71417	0.508000	0.27688	0.402000	0.30811	3.136000	0.50554	0.209000	0.20645	-0.211000	0.12701	GAA	FNDC7	-	NULL		0.348	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	G	NM_173532		109284418	1	no_errors	ENST00000271311	ensembl	human	known	70_37	missense	SNP	0.995	A	A	109284418	G	A	109284418	3	1	101	1	0	0	0	0	1	0	0	0	5991	1291	45	1	2240	1	FNDC7	1	109284418	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5812578	109284418	139966203	11	14642										
CHI3L2	1117	genome.wustl.edu	37	chr1	111777568	111777568	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcttctacatcacgcttggaAttcattaactccataatcct	3	12	4	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:111777568A>T	ENST00000445067.2	+	7	1140	c.369A>T	c.(367-369)gaA>gaT	p.E123D	CHI3L2_ENST00000524472.1_Missense_Mutation_p.E44D|CHI3L2_ENST00000369748.4_Missense_Mutation_p.E123D|CHI3L2_ENST00000466741.1_Missense_Mutation_p.E44D|CHI3L2_ENST00000369744.2_Missense_Mutation_p.E113D			Q15782	CH3L2_HUMAN	chitinase 3-like 2	123					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CACGCTTGGAATTCATTAACT	0.403																																																	0													131	117	122					1																	111777568		2203	4300	6503	SO:0001583	missense	1117			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.369A>T	1.37:g.111777568A>T	ENSP00000437082:p.Glu123Asp		A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.E123D	ENST00000445067.2	37	c.369	CCDS30802.1	1	.	.	.	.	.	.	.	.	.	.	A	7.888	0.731790	0.15507	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472	T;T;T;T;T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42	3.71	-2.39	0.06602	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.114660	0.06972	N	0.818338	T	0.01695	0.0054	L	0.46157	1.445	0.19300	N	0.999977	B;B;B	0.30068	0.125;0.125;0.267	B;B;B	0.29942	0.109;0.109;0.109	T	0.47302	-0.9128	10	0.62326	D	0.03	-2.3624	0.8904	0.01253	0.4821:0.1603:0.2016:0.1561	.	44;113;123	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	D	123;123;123;113;123;123;44;44;25;44;44	ENSP00000437082:E123D;ENSP00000436077:E123D;ENSP00000431968:E123D;ENSP00000358759:E113D;ENSP00000358763:E123D;ENSP00000437086:E44D;ENSP00000436272:E44D;ENSP00000431978:E25D;ENSP00000436006:E44D;ENSP00000432049:E44D	ENSP00000358759:E113D	E	+	3	2	CHI3L2	111579091	0.000000	0.05858	0.004000	0.12327	0.101000	0.19017	-1.682000	0.01935	-0.254000	0.09500	0.379000	0.24179	GAA	CHI3L2	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.403	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	HGNC	protein_coding	OTTHUMT00000033669.4	A	NM_004000		111777568	1	no_errors	ENST00000369748	ensembl	human	known	70_37	missense	SNP	0.036	T	T	111777568	A	T	111777568	3	4	101	1	0	0	0	0	1	0	0	0	3346	98	4	5	387	5	CHI3L2	1	111777568	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	2493150	111777568	137473053	12	14643										
AP4B1	10717	genome.wustl.edu	37	chr1	114438007	114438007	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aactttaaggctaagccaagTtttctcaaaataatcagcag	6	8	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:114438007T>A	ENST00000369569.1	-	10	2180	c.1900A>T	c.(1900-1902)Act>Tct	p.T634S	AP4B1_ENST00000369567.1_Missense_Mutation_p.T466S|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.T634S|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	634					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAAGCCAAGTTTTCTCAAAA	0.483																																																	0													93	97	96					1																	114438007		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1900A>T	1.37:g.114438007T>A	ENSP00000358582:p.Thr634Ser		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.T634S	ENST00000369569.1	37	c.1900	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333703	0.41297	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.63417	-0.04;-0.03;-0.03	5.83	4.64	0.57946	Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.304708	0.34652	N	0.003796	T	0.29491	0.0735	N	0.17082	0.46	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.17722	0.011;0.019	T	0.22556	-1.0213	10	0.44086	T	0.13	.	10.6792	0.45804	0.1423:0.0:0.0:0.8577	.	466;634	B1ALD0;Q9Y6B7	.;AP4B1_HUMAN	S	466;634;634	ENSP00000358580:T466S;ENSP00000358582:T634S;ENSP00000256658:T634S	ENSP00000256658:T634S	T	-	1	0	AP4B1	114239530	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.106000	0.50322	2.226000	0.72624	0.460000	0.39030	ACT	AP4B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	T	NM_006594		114438007	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114438007	T	A	114438007	3	1	101	1	0	0	0	0	1	0	0	0	751	1725	60	5	323	5	AP4B1	1	114438007	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	2660439	114438007	134812614	13	14644										
AP4B1	10717	genome.wustl.edu	37	chr1	114447340	114447340	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcggagccaaggtacggcatCttcctaagagtcacagggca	12	11	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:114447340C>G	ENST00000369569.1	-	0	280				AP4B1_ENST00000369567.1_5'UTR|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_5'UTR|AP4B1_ENST00000256658.4_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTACGGCATCTTCCTAAGAG	0.547																																																	0													161	144	150					1																	114447340		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.-1G>C	1.37:g.114447340C>G			B7Z4X3|Q59EJ4|Q96CL6	RNA	SNP	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1	-	-		0.547	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	C	NM_006594		114447340	-1	no_errors	ENST00000484201	ensembl	human	known	70_37	rna	SNP	0.066	G	G	114447340	C	G	114447340	1	3	101	0	1	0	0	0	0	0	0	0	751	928	32	1		1	AP4B1	1	114447340	5'UTR	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9333	114447340	134803281	14	14645										
OLFML3	56944	genome.wustl.edu	37	chr1	114522252	114522252	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgccgactagctgctttagaGgtgagggacccctttctctt	11	12	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:114522252G>A	ENST00000320334.4	+	1	188	c.114G>A	c.(112-114)gaG>gaA	p.E38E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_5'UTR|OLFML3_ENST00000393300.2_5'Flank	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	38					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTTTAGAGGTGAGGGACC	0.537											OREG0013687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	78	81					1																	114522252		2203	4300	6503	SO:0001630	splice_region_variant	56944			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.114+1G>A	1.37:g.114522252G>A		1458	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.E38	ENST00000320334.4	37	c.114	CCDS870.1	1																																																																																			OLFML3	-	NULL		0.537	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	G	NM_020190	Silent	114522252	1	no_errors	ENST00000320334	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114522252	G	A	114522252	5	1	101	1	0	0	0	0	0	0	1	0	10883	1014	35	4	116	4	OLFML3	1	114522252	Splice_Site	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	74912	114522252	134728369	15	14646										
PTGFRN	5738	genome.wustl.edu	37	chr1	117509918	117509918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgagaagcagcaaccagtctCtccaatcctattgagataga	8	11	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:117509918C>T	ENST00000393203.2	+	6	2172	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	675					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACCAGTCTCTCCAATCCTA	0.537																																																	0													52	53	52					1																	117509918		2203	4300	6503	SO:0001819	synonymous_variant	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2025C>T	1.37:g.117509918C>T			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L675	ENST00000393203.2	37	c.2025	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509918	1	no_errors	ENST00000393203	ensembl	human	known	70_37	silent	SNP	0.988	T	T	117509918	C	T	117509918	2	4	101	1	0	0	0	0	0	0	0	1	12778	900	32	1		1	PTGFRN	1	117509918	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2987666	117509918	131740703	16	14647										
IVL	3713	genome.wustl.edu	37	chr1	152882943	152882943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcagcaggaggggcagctgGagctcccagagcagcaggag	18	10	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:152882943G>C	ENST00000368764.3	+	2	734	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	IVL_ENST00000392667.2_Missense_Mutation_p.E78Q			P07476	INVO_HUMAN	involucrin	224	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggggcagctggagctcccaga	0.692																																																	0													1	2	2					1																	152882943		1109	2558	3667	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.670G>C	1.37:g.152882943G>C	ENSP00000357753:p.Glu224Gln		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.E224Q	ENST00000368764.3	37	c.670	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	g	0.034	-1.317292	0.01331	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10477	3.07;2.87	2.72	-5.44	0.02624	.	.	.	.	.	T	0.01870	0.0059	L	0.42245	1.32	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.45687	-0.9244	9	0.15952	T	0.53	.	5.2626	0.15582	0.2153:0.2907:0.4939:0.0	.	224	P07476	INVO_HUMAN	Q	224;78	ENSP00000357753:E224Q;ENSP00000376435:E78Q	ENSP00000357753:E224Q	E	+	1	0	IVL	151149567	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.939000	0.03933	-1.840000	0.01184	-2.281000	0.00270	GAG	IVL	-	pfam_Involucrin_rpt		0.692	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	G	NM_005547		152882943	1	no_errors	ENST00000368764	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152882943	G	C	152882943	3	2	101	1	0	0	0	0	1	0	0	0	7949	1175	41	1	672	1	IVL	1	152882943	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	35373025	152882943	96367678	17	14648										
FDPS	2224	genome.wustl.edu	37	chr1	155288073	155288073	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tacctgaacctgatcgagctCttcctgcaggtgtattgcag	10	11	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:155288073C>G	ENST00000356657.6	+	6	837	c.675C>G	c.(673-675)ctC>ctG	p.L225L	FDPS_ENST00000447866.1_Silent_p.L159L|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Silent_p.L225L	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	225					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGATCGAGCTCTTCCTGCAGG	0.542																																																	0													70	65	67					1																	155288073		2203	4300	6503	SO:0001819	synonymous_variant	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.675C>G	1.37:g.155288073C>G			D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L225	ENST00000356657.6	37	c.675	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155288073	1	no_errors	ENST00000356657	ensembl	human	known	70_37	silent	SNP	0.995	G	G	155288073	C	G	155288073	2	3	101	1	0	0	0	0	0	0	0	1	5821	900	32	1		1	FDPS	1	155288073	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2405130	155288073	93962548	18	14649										
MEX3A	92312	genome.wustl.edu	37	chr1	156051708	156051708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtcttccagcagccctcggtCcttagcgcttcccccgaaac	8	18	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:156051708C>T	ENST00000532414.2	-	1	81	c.82G>A	c.(82-84)Gac>Aac	p.D28N	MEX3A_ENST00000442784.1_5'Flank|LMNA_ENST00000368301.2_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	28						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTCGGTCCTTAGCGCTT	0.602																																																	0													19	20	20					1																	156051708		1428	2854	4282	SO:0001583	missense	92312			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.82G>A	1.37:g.156051708C>T	ENSP00000432845:p.Asp28Asn			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.D28N	ENST00000532414.2	37	c.82	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	c	15.93	2.976856	0.53720	.	.	ENSG00000254726	ENST00000532414	T	0.49720	0.77	2.2	2.2	0.27929	.	0.516049	0.12762	U	0.441222	T	0.09024	0.0223	N	0.08118	0	0.29753	N	0.83621	P	0.51933	0.949	B	0.36845	0.234	T	0.02917	-1.1094	10	0.27082	T	0.32	.	7.9291	0.29891	0.0:1.0:0.0:0.0	.	28	A1L020	MEX3A_HUMAN	N	28	ENSP00000432845:D28N	ENSP00000432845:D28N	D	-	1	0	MEX3A	154318332	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.906000	0.28517	1.232000	0.43678	0.403000	0.27427	GAC	MEX3A	-	NULL		0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	C	NM_001093725		156051708	-1	no_errors	ENST00000532414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156051708	C	T	156051708	3	4	101	1	0	0	0	0	1	0	0	0	9532	855	30	1	1488	1	MEX3A	1	156051708	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	763635	156051708	93198913	19	14650										
OR10J3	441911	genome.wustl.edu	37	chr1	159283820	159283820	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ataaagaccaggcccataggTagaacaaggacacagacgct	10	10	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:159283820T>A	ENST00000332217.5	-	1	629	c.630A>T	c.(628-630)ctA>ctT	p.L210L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGCCCATAGGTAGAACAAGGA	0.488																																																	0													164	147	153					1																	159283820		2203	4300	6503	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.630A>T	1.37:g.159283820T>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L210	ENST00000332217.5	37	c.630	CCDS30909.1	1																																																																																			OR10J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	T			159283820	-1	no_errors	ENST00000332217	ensembl	human	known	70_37	silent	SNP	0.044	A	A	159283820	T	A	159283820	2	1	101	1	0	0	0	0	0	0	0	1	10935	1625	57	5		5	OR10J3	1	159283820	Silent	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	3232112	159283820	89966801	20	14651										
OR10J3	441911	genome.wustl.edu	37	chr1	159283925	159283925	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acatcacagaagaagtgggaGatgacaaaggcatcacagaa	11	7	2	5	rs148327372	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:159283925G>A	ENST00000332217.5	-	1	524	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGAAGTGGGAGATGACAAAGG	0.502																																																	0													75	68	70					1																	159283925		2203	4300	6503	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.525C>T	1.37:g.159283925G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I175	ENST00000332217.5	37	c.525	CCDS30909.1	1																																																																																			OR10J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	G			159283925	-1	no_errors	ENST00000332217	ensembl	human	known	70_37	silent	SNP	0.133	A	A	159283925	G	A	159283925	2	1	101	1	0	0	0	0	0	0	0	1	10935	932	33	1		1	OR10J3	1	159283925	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	105	159283925	89966696	21	14652										
SLAMF8	56833	genome.wustl.edu	37	chr1	159799818	159799818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacgtttttccgaggctcccTggagactctgtaccattccc	8	15	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:159799818T>A	ENST00000289707.5	+	2	352	c.203T>A	c.(202-204)cTg>cAg	p.L68Q	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	68					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CGAGGCTCCCTGGAGACTCTG	0.632																																																	0													105	113	110					1																	159799818		2203	4300	6503	SO:0001583	missense	56833			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.203T>A	1.37:g.159799818T>A	ENSP00000289707:p.Leu68Gln		Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like	p.L68Q	ENST00000289707.5	37	c.203	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	T	7.683	0.689465	0.14973	.	.	ENSG00000158714	ENST00000289707	T	0.22945	1.93	4.44	-5.3	0.02738	.	0.896444	0.09496	N	0.794296	T	0.05318	0.0141	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	P	0.44990	0.466	T	0.14309	-1.0477	10	0.13853	T	0.58	0.0099	7.816	0.29260	0.1501:0.5953:0.0:0.2546	.	68	Q9P0V8	SLAF8_HUMAN	Q	68	ENSP00000289707:L68Q	ENSP00000289707:L68Q	L	+	2	0	SLAMF8	158066442	0.000000	0.05858	0.011000	0.14972	0.215000	0.24574	-0.943000	0.03917	-1.021000	0.03350	0.260000	0.18958	CTG	SLAMF8	-	NULL		0.632	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1	T	NM_020125		159799818	1	no_errors	ENST00000289707	ensembl	human	known	70_37	missense	SNP	0.002	A	A	159799818	T	A	159799818	3	1	101	1	0	0	0	0	1	0	0	0	14400	1580	55	5	209	5	SLAMF8	1	159799818	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	515893	159799818	89450803	22	14653										
FCER1G	2207	genome.wustl.edu	37	chr1	161187833	161187833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgccatcctgtttctgtatgGaattgtcctcaccctcctct	6	14	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:161187833G>A	ENST00000289902.1	+	2	132	c.107G>A	c.(106-108)gGa>gAa	p.G36E	AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Missense_Mutation_p.G36E|FCER1G_ENST00000490414.1_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	36					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TTTCTGTATGGAATTGTCCTC	0.597																																																	0													181	166	171					1																	161187833		2203	4300	6503	SO:0001583	missense	2207				CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.107G>A	1.37:g.161187833G>A	ENSP00000289902:p.Gly36Glu		Q5VTW4	Missense_Mutation	SNP	pfam_CR3_zeta/IgE_Fc_rcpt_gamma	p.G36E	ENST00000289902.1	37	c.107	CCDS1225.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504236	0.85176	.	.	ENSG00000158869	ENST00000367992;ENST00000289902	T	0.49720	0.77	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.64527	0.2606	.	.	.	0.38117	D	0.937758	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68800	-0.5313	8	0.87932	D	0	.	15.5631	0.76266	0.0:0.0:1.0:0.0	.	36;36	A6NCQ8;P30273	.;FCERG_HUMAN	E	36	ENSP00000356971:G36E	ENSP00000289902:G36E	G	+	2	0	FCER1G	159454457	1.000000	0.71417	0.622000	0.29159	0.809000	0.45718	7.718000	0.84743	2.735000	0.93741	0.655000	0.94253	GGA	FCER1G	-	pfam_CR3_zeta/IgE_Fc_rcpt_gamma		0.597	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCER1G	HGNC	protein_coding	OTTHUMT00000083012.1	G	NM_004106		161187833	1	no_errors	ENST00000367992	ensembl	human	known	70_37	missense	SNP	0.999	A	A	161187833	G	A	161187833	3	1	101	1	0	0	0	0	1	0	0	0	5793	1174	41	1	113	1	FCER1G	1	161187833	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1388015	161187833	88062788	23	14654										
XCL2	6846	genome.wustl.edu	37	chr1	168511278	168511278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atggtgtaggtcttgattctGctaactggcagtcgctgggt	14	7	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:168511278G>T	ENST00000367819.2	-	2	161	c.129C>A	c.(127-129)agC>agA	p.S43R		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	43					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TCTTGATTCTGCTAACTGGCA	0.483																																																	0													142	119	126					1																	168511278		2203	4300	6503	SO:0001583	missense	6846			BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.129C>A	1.37:g.168511278G>T	ENSP00000356793:p.Ser43Arg			Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1	p.S43R	ENST00000367819.2	37	c.129	CCDS1273.1	1	.	.	.	.	.	.	.	.	.	.	G	0.469	-0.885178	0.02511	.	.	ENSG00000143185	ENST00000367819	T	0.04119	3.7	2.49	-4.98	0.03019	Chemokine interleukin-8-like domain (3);	1.273740	0.05040	N	0.476182	T	0.00754	0.0025	N	0.16478	0.41	0.20489	N	0.9999	B	0.22604	0.072	B	0.26202	0.067	T	0.48151	-0.9060	9	0.16420	T	0.52	-3.1338	4.8055	0.13317	0.0:0.2951:0.3:0.4049	.	43	Q9UBD3	XCL2_HUMAN	R	43	ENSP00000356793:S43R	ENSP00000356793:S43R	S	-	3	2	XCL2	166777902	0.000000	0.05858	0.003000	0.11579	0.154000	0.21943	-1.925000	0.01564	-1.450000	0.01936	0.195000	0.17529	AGC	XCL2	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1		0.483	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL2	HGNC	protein_coding	OTTHUMT00000083613.1	G	NM_003175		168511278	-1	no_errors	ENST00000367819	ensembl	human	known	70_37	missense	SNP	0.001	T	T	168511278	G	T	168511278	3	4	101	1	0	0	0	0	1	0	0	0	17455	1310	46	4	223	4	XCL2	1	168511278	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7323445	168511278	80739343	24	14655										
F5	2153	genome.wustl.edu	37	chr1	169510846	169510846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggggaaggacttgtgacttCggtcatactcaagcatttca	11	8	3	1	rs368369078		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:169510846C>A	ENST00000367797.3	-	13	3683	c.3482G>T	c.(3481-3483)cGa>cTa	p.R1161L	F5_ENST00000367796.3_Missense_Mutation_p.R1166L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1161	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTTGTGACTTCGGTCATACTC	0.488																																																	0													191	196	195					1																	169510846		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3482G>T	1.37:g.169510846C>A	ENSP00000356771:p.Arg1161Leu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1166L	ENST00000367797.3	37	c.3497	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283556	0.05642	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.18657	2.2;2.2	4.07	-0.937	0.10415	.	0.915544	0.09172	N	0.838662	T	0.01287	0.0042	N	0.00841	-1.15	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	9	0.28530	T	0.3	-0.8739	0.9435	0.01360	0.3271:0.3318:0.1855:0.1556	.	1161	P12259	FA5_HUMAN	L	1161;1166	ENSP00000356771:R1161L;ENSP00000356770:R1166L	ENSP00000356770:R1166L	R	-	2	0	F5	167777470	0.040000	0.19996	0.011000	0.14972	0.002000	0.02628	-0.310000	0.08135	-0.162000	0.10964	-1.171000	0.01739	CGA	F5	-	NULL		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169510846	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.108	A	A	169510846	C	A	169510846	3	1	101	1	0	0	0	0	1	0	0	0	5360	884	31	3	3244	3	F5	1	169510846	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	999568	169510846	79739775	25	14656										
C1orf112	55732	genome.wustl.edu	37	chr1	169798460	169798460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcagtgttctggtgaactctCtctacctgttcatttacagg	9	10	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:169798460C>G	ENST00000286031.6	+	13	1884	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	C1orf112_ENST00000413811.2_Missense_Mutation_p.L323V|C1orf112_ENST00000359326.4_Missense_Mutation_p.S395C|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	395										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTGAACTCTCTCTACCTGTT	0.393																																																	0													173	167	169					1																	169798460		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1184C>G	1.37:g.169798460C>G	ENSP00000286031:p.Ser395Cys		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.S395C	ENST00000286031.6	37	c.1184	CCDS1285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.414739|4.414739	0.83449|0.83449	.|.	.|.	ENSG00000000460|ENSG00000000460	ENST00000413811|ENST00000359326;ENST00000286031	.|T;T	.|0.48522	.|0.81;0.81	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.389526	.|0.30630	.|N	.|0.009215	T|T	0.57740|0.57740	0.2074|0.2074	M|M	0.72118|0.72118	2.19|2.19	0.24449|0.24449	N|N	0.994492|0.994492	P|D;D	0.44627|0.69078	0.839|0.997;0.997	P|P;P	0.46110|0.62298	0.504|0.9;0.891	T|T	0.56529|0.56529	-0.7964|-0.7964	8|10	0.87932|0.72032	D|D	0|0.01	-20.9947|-20.9947	17.5078|17.5078	0.87750|0.87750	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323|337;395	B4E0A9|B4DGF2;Q9NSG2	.|.;CA112_HUMAN	V|C	323|395	.|ENSP00000352276:S395C;ENSP00000286031:S395C	ENSP00000389257:L323V|ENSP00000286031:S395C	L|S	+|+	1|2	0|0	C1orf112|C1orf112	168065084|168065084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.041000|4.041000	0.57339|0.57339	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTC|TCT	C1orf112	-	NULL		0.393	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169798460	1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169798460	C	G	169798460	3	3	101	1	0	0	0	0	1	0	0	0	1990	913	32	1	1226	1	C1orf112	1	169798460	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	287614	169798460	79452161	26	14657										
ASTN1	460	genome.wustl.edu	37	chr1	176918332	176918332	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcaactcacccacagaacatGaggatgttatacaaggtggg	10	9	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:176918332G>A	ENST00000367654.3	-	12	2278	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	ASTN1_ENST00000367657.3_Silent_p.L681L|ASTN1_ENST00000424564.2_Silent_p.L681L|ASTN1_ENST00000361833.2_Silent_p.L681L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	689	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGAACATGAGGATGTTAT	0.582											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	84	85					1																	176918332		2203	4300	6503	SO:0001819	synonymous_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2067C>T	1.37:g.176918332G>A		1934	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L689	ENST00000367654.3	37	c.2067		1																																																																																			ASTN1	-	smart_EG-like_dom		0.582	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176918332	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	silent	SNP	1.000	A	A	176918332	G	A	176918332	2	1	101	1	0	0	0	0	0	0	0	1	1065	1277	45	1		1	ASTN1	1	176918332	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7119872	176918332	72332289	27	14658										
CACNA1E	777	genome.wustl.edu	37	chr1	181701777	181701777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgaggaggagcgcatcagccGtggggggtccctcaaggggg	20	10	2	0	rs538192254	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:181701777G>A	ENST00000367573.2	+	20	2555	c.2555G>A	c.(2554-2556)cGt>cAt	p.R852H	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R784H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R803H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R852H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R833H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R459H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R833H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	852					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)			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						CGCATCAGCCGTGGGGGGTCC	0.687													G|||	2	0.000399361	8e-04	0	5008	,	,		16438	0.001		0	False		,,,				2504	0																0													11	14	13					1																	181701777		1878	4080	5958	SO:0001583	missense	777			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.2555G>A	1.37:g.181701777G>A	ENSP00000356545:p.Arg852His		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.R852H	ENST00000367573.2	37	c.2555	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626092	0.66901	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96716	-4.0;-3.96;-4.0;-3.96;-4.1;-3.96;-4.0	4.14	4.14	0.48551	.	2.677650	0.00829	N	0.001658	D	0.92828	0.7719	N	0.08118	0	0.28914	N	0.892512	P;D;P	0.56287	0.871;0.975;0.871	B;P;B	0.45232	0.386;0.474;0.386	D	0.87061	0.2153	10	0.45353	T	0.12	.	12.188	0.54250	0.0:0.1731:0.8269:0.0	.	833;852;852	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	852;833;803;784;459;833;852	ENSP00000356542:R852H;ENSP00000434814:R833H;ENSP00000350183:R803H;ENSP00000351101:R784H;ENSP00000356539:R459H;ENSP00000353222:R833H;ENSP00000356545:R852H	ENSP00000350183:R803H	R	+	2	0	CACNA1E	179968400	0.193000	0.23313	0.986000	0.45419	0.934000	0.57294	2.687000	0.46976	2.596000	0.87737	0.561000	0.74099	CGT	CACNA1E	-	NULL		0.687	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181701777	1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	0.966	A	A	181701777	G	A	181701777	3	1	101	1	0	0	0	0	1	0	0	0	2547	1145	40	2	2633	2	CACNA1E	1	181701777	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4783445	181701777	67548844	28	14659										
ZNF648	127665	genome.wustl.edu	37	chr1	182027076	182027076	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gctcagcatctgggtgtcatGagcttcctcagtcaagctgc	11	12	5	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:182027076G>C	ENST00000339948.3	-	2	277	c.70C>G	c.(70-72)Cat>Gat	p.H24D		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGGGTGTCATGAGCTTCCTCA	0.577																																					NSCLC(71;908 1374 5429 20458 35642)												0													87	78	81					1																	182027076		2203	4300	6503	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.70C>G	1.37:g.182027076G>C	ENSP00000344129:p.His24Asp		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H24D	ENST00000339948.3	37	c.70	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	6.522	0.464501	0.12402	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	1.84	0.91	0.19337	.	.	.	.	.	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.40701	-0.9549	9	0.39692	T	0.17	.	3.0815	0.06264	0.1815:0.2909:0.5276:0.0	.	24	Q5T619	ZN648_HUMAN	D	24	ENSP00000344129:H24D	ENSP00000344129:H24D	H	-	1	0	ZNF648	180293699	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.307000	0.19296	0.351000	0.24027	0.655000	0.94253	CAT	ZNF648	-	NULL		0.577	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	G	XM_060597		182027076	-1	no_errors	ENST00000339948	ensembl	human	known	70_37	missense	SNP	0.001	C	C	182027076	G	C	182027076	3	2	101	1	0	0	0	0	1	0	0	0	18093	1290	45	1	1640	1	ZNF648	1	182027076	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	325299	182027076	67223545	29	14660										
PTGS2	5743	genome.wustl.edu	37	chr1	186645143	186645143	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtatttctggtcatgaatttGaaaggtgtcaggcagaaggg	14	4	3	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:186645143G>A	ENST00000367468.5	-	8	1280	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	382					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Q382E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TCATGAATTTGAAAGGTGTCA	0.393																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											188	185	186					1																	186645143		2203	4300	6503	SO:0001587	stop_gained	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1144C>T	1.37:g.186645143G>A	ENSP00000356438:p.Gln382*		A8K802|Q16876	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Q382*	ENST00000367468.5	37	c.1144	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675557	0.88445	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.6	3.55	0.40652	.	0.465947	0.27956	N	0.017180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-2.7083	9.9171	0.41442	0.0:0.1205:0.4988:0.3807	.	.	.	.	X	382	.	ENSP00000356438:Q382X	Q	-	1	0	PTGS2	184911766	1.000000	0.71417	0.873000	0.34254	0.220000	0.24768	3.591000	0.53986	1.433000	0.47394	0.650000	0.86243	CAA	PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.393	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	G	NM_000963		186645143	-1	no_errors	ENST00000367468	ensembl	human	known	70_37	nonsense	SNP	0.989	A	A	186645143	G	A	186645143	4	1	101	1	0	0	0	0	0	1	0	0	12784	1299	45	1	682	1	PTGS2	1	186645143	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4618067	186645143	62605478	30	14661										
FAIM3	9214	genome.wustl.edu	37	chr1	207083082	207083082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cggctcacctgcagcgtccgCtccacgagcgcgccgcgggc	14	19	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:207083082C>T	ENST00000367091.3	-	6	1116	c.973G>A	c.(973-975)Gcg>Acg	p.A325T	FAIM3_ENST00000442471.2_Missense_Mutation_p.A213T|FAIM3_ENST00000420007.2_Missense_Mutation_p.S281N|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	325					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GCAGCGTCCGCTCCACGAGCG	0.751																																																	0													2	2	2					1																	207083082		1355	3030	4385	SO:0001583	missense	9214			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.973G>A	1.37:g.207083082C>T	ENSP00000356058:p.Ala325Thr		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.A325T	ENST00000367091.3	37	c.973	CCDS1473.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.742|2.742	-0.261978|-0.261978	0.05791|0.05791	.|.	.|.	ENSG00000162894|ENSG00000162894	ENST00000367091;ENST00000442471|ENST00000420007	T|T	0.25749|0.23950	1.78|1.88	4.03|4.03	-0.514|-0.514	0.11958|0.11958	.|.	1.875980|.	0.02896|.	N|.	0.134773|.	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32829|.	0.386;0.386;0.267|.	B;B;B|.	0.28139|.	0.086;0.086;0.039|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|7	0.52906|0.54805	T|T	0.07|0.06	0.0406|0.0406	6.86|6.86	0.24062|0.24062	0.2045:0.2574:0.5382:0.0|0.2045:0.2574:0.5382:0.0	.|.	234;213;325|.	B7Z497;B7Z6Z0;O60667|.	.;.;FAIM3_HUMAN|.	T|N	325;213|281	ENSP00000356058:A325T|ENSP00000403356:S281N	ENSP00000356058:A325T|ENSP00000403356:S281N	A|S	-|-	1|2	0|0	FAIM3|FAIM3	205149705|205149705	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.069000|0.069000	0.16628|0.16628	0.016000|0.016000	0.13377|0.13377	0.021000|0.021000	0.15133|0.15133	0.561000|0.561000	0.74099|0.74099	GCG|AGC	FAIM3	-	NULL		0.751	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	C	NM_005449		207083082	-1	no_errors	ENST00000367091	ensembl	human	known	70_37	missense	SNP	0.000	T	T	207083082	C	T	207083082	3	4	101	1	0	0	0	0	1	0	0	0	5392	797	28	4	211	4	FAIM3	1	207083082	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	20437939	207083082	42167539	31	14662										
NEK2	4751	genome.wustl.edu	37	chr1	211847840	211847840	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	catggagccatagtcaagttCtttccaaactaatatctgaa	6	9	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:211847840C>G	ENST00000366999.4	-	2	250	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	NEK2_ENST00000366998.3_Missense_Mutation_p.E38Q|NEK2_ENST00000540251.1_5'UTR|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAGTCAAGTTCTTTCCAAACT	0.343																																																	0													39	35	36					1																	211847840		2203	4300	6503	SO:0001583	missense	4751			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.112G>C	1.37:g.211847840C>G	ENSP00000355966:p.Glu38Gln		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	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.E38Q	ENST00000366999.4	37	c.112	CCDS1500.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639469	0.87760	.	.	ENSG00000117650	ENST00000366999;ENST00000366998	T;T	0.24350	1.86;1.86	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053171	0.85682	D	0.000000	T	0.30696	0.0773	N	0.25031	0.7	0.80722	D	1	P;P;P	0.47545	0.708;0.897;0.874	P;P;P	0.53401	0.466;0.725;0.466	T	0.08391	-1.0724	10	0.46703	T	0.11	.	17.4648	0.87629	0.0:1.0:0.0:0.0	.	38;38;38	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	Q	38	ENSP00000355966:E38Q;ENSP00000355965:E38Q	ENSP00000355965:E38Q	E	-	1	0	NEK2	209914463	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.538000	0.82048	2.175000	0.68902	0.591000	0.81541	GAA	NEK2	-	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		0.343	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	C	NM_002497		211847840	-1	no_errors	ENST00000366999	ensembl	human	known	70_37	missense	SNP	1.000	G	G	211847840	C	G	211847840	3	3	101	1	0	0	0	0	1	0	0	0	10348	922	32	1	1253	1	NEK2	1	211847840	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	4764758	211847840	37402781	32	14663										
TRIM17	51127	genome.wustl.edu	37	chr1	228601524	228601524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctcggctaagctctgctcctCcctggcctgcagattccctg	9	17	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:228601524C>T	ENST00000366697.2	-	2	1455	c.499G>A	c.(499-501)Gag>Aag	p.E167K	TRIM17_ENST00000456946.2_Missense_Mutation_p.E167K|TRIM17_ENST00000295033.3_Missense_Mutation_p.E167K|TRIM17_ENST00000366698.2_Missense_Mutation_p.E167K			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	167					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTGCTCCTCCCTGGCCTGC	0.592																																																	0													139	104	116					1																	228601524		2203	4300	6503	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.499G>A	1.37:g.228601524C>T	ENSP00000355658:p.Glu167Lys		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E167K	ENST00000366697.2	37	c.499	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971874	0.53614	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	T;T;T;T;T;T	0.18810	3.08;3.08;3.08;3.08;3.08;2.19	3.5	3.5	0.40072	.	0.000000	0.38548	N	0.001646	T	0.41305	0.1153	M	0.81497	2.545	0.30646	N	0.755915	D;D	0.76494	0.971;0.999	P;D	0.80764	0.882;0.994	T	0.35699	-0.9778	10	0.12103	T	0.63	.	10.8288	0.46649	0.0:1.0:0.0:0.0	.	167;167	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	K	167;167;167;167;140;167	ENSP00000355658:E167K;ENSP00000355659:E167K;ENSP00000295033:E167K;ENSP00000403312:E167K;ENSP00000430468:E140K;ENSP00000347794:E167K	ENSP00000295033:E167K	E	-	1	0	TRIM17	226668147	0.676000	0.27567	0.955000	0.39395	0.295000	0.27426	1.667000	0.37471	2.260000	0.74910	0.561000	0.74099	GAG	TRIM17	-	NULL		0.592	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	C	NM_016102		228601524	-1	no_errors	ENST00000295033	ensembl	human	known	70_37	missense	SNP	0.972	T	T	228601524	C	T	228601524	3	4	101	1	0	0	0	0	1	0	0	0	16524	864	30	1	1103	1	TRIM17	1	228601524	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	16753684	228601524	20649097	33	14664										
PGBD5	79605	genome.wustl.edu	37	chr1	230486791	230486791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgcagctcccgctctgtgcaCgtggcaatgaatacaggatc	11	13	1	1	rs76234678	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:230486791C>T	ENST00000525115.1	-	3	623	c.600G>A	c.(598-600)acG>acA	p.T200T	PGBD5_ENST00000391860.1_Silent_p.T154T|PGBD5_ENST00000321327.2_Silent_p.T299T			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	200						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTCTGTGCACGTGGCAATGA	0.547																																																	0													112	97	102					1																	230486791		2203	4300	6503	SO:0001819	synonymous_variant	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.600G>A	1.37:g.230486791C>T			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.T299	ENST00000525115.1	37	c.897		1																																																																																			PGBD5	-	NULL		0.547	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230486791	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	silent	SNP	0.644	T	T	230486791	C	T	230486791	2	4	101	1	0	0	0	0	0	0	0	1	11808	523	19	2		2	PGBD5	1	230486791	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1885267	230486791	18763830	34	14665										
TARBP1	6894	genome.wustl.edu	37	chr1	234565905	234565905	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctgcagcgtctgattgagcTgaagagaggaaaggaagctt	14	6	2	4	rs141150345		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:234565905T>A	ENST00000040877.1	-	15	2536	c.2537A>T	c.(2536-2538)cAg>cTg	p.Q846L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	846					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGATTGAGCTGAAGAGAGGA	0.562																																																	0													145	152	150					1																	234565905		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2537A>T	1.37:g.234565905T>A	ENSP00000040877:p.Gln846Leu		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.Q846L	ENST00000040877.1	37	c.2537	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214845	0.39102	.	.	ENSG00000059588	ENST00000040877	T	0.06449	3.3	5.35	-2.98	0.05513	.	0.674286	0.15861	N	0.241012	T	0.06234	0.0161	L	0.46157	1.445	0.09310	N	1	P	0.34462	0.454	B	0.26614	0.071	T	0.07770	-1.0755	10	0.27082	T	0.32	-4.8477	18.459	0.90731	0.0:0.0:0.144:0.856	.	846	Q13395	TARB1_HUMAN	L	846	ENSP00000040877:Q846L	ENSP00000040877:Q846L	Q	-	2	0	TARBP1	232632528	0.753000	0.28349	0.000000	0.03702	0.864000	0.49448	0.192000	0.17096	-0.703000	0.05049	-0.321000	0.08615	CAG	TARBP1	-	NULL		0.562	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	T	NM_005646		234565905	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	0.001	A	A	234565905	T	A	234565905	3	1	101	1	0	0	0	0	1	0	0	0	15585	1580	55	5	2392	5	TARBP1	1	234565905	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	4079114	234565905	14684716	35	14666										
AHCTF1	25909	genome.wustl.edu	37	chr1	247063409	247063409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aaaaaactgctcgggaggtgGatatgaaggagggactcctc	14	7	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:247063409G>C	ENST00000391829.2	-	10	1513	c.1390C>G	c.(1390-1392)Cca>Gca	p.P464A	AHCTF1_ENST00000326225.3_Missense_Mutation_p.P473A|AHCTF1_ENST00000366508.1_Missense_Mutation_p.P499A|AHCTF1_ENST00000470300.1_5'Flank			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	464	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCGGGAGGTGGATATGAAGGA	0.363																																					Colon(145;197 1800 4745 15099 26333)												0													97	114	108					1																	247063409		2200	4295	6495	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1390C>G	1.37:g.247063409G>C	ENSP00000375705:p.Pro464Ala		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.P473A	ENST00000391829.2	37	c.1417		1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236802	0.79800	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33438	1.41;1.41;1.41	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.34521	1.04	0.80722	D	1	P;D	0.58970	0.944;0.984	P;P	0.53450	0.646;0.726	T	0.32161	-0.9917	10	0.72032	D	0.01	-14.4725	18.1406	0.89638	0.0:0.0:1.0:0.0	.	499;464	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	499;473;464	ENSP00000355464:P499A;ENSP00000355465:P473A;ENSP00000375705:P464A	ENSP00000355465:P473A	P	-	1	0	AHCTF1	245130032	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.591000	0.82666	2.343000	0.79666	0.462000	0.41574	CCA	AHCTF1	-	NULL		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		G	NM_015446		247063409	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	C	C	247063409	G	C	247063409	3	2	101	1	0	0	0	0	1	0	0	0	408	1174	41	1	5518	1	AHCTF1	1	247063409	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	12497504	247063409	2187212	36	14667										
IAH1	285148	genome.wustl.edu	37	chr2	9618415	9618415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggtgggccaaaattatccttCcaagattaatcaggaaagga	10	7	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:9618415C>T	ENST00000497473.1	+	3	236	c.199C>T	c.(199-201)Cca>Tca	p.P67S	IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000489468.1_3'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	67					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTATCCTTCCAAGATTAAT	0.368																																																	0													107	101	103					2																	9618415		1831	4087	5918	SO:0001583	missense	285148			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.199C>T	2.37:g.9618415C>T	ENSP00000417580:p.Pro67Ser		B4DMV3	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.P67S	ENST00000497473.1	37	c.199	CCDS42651.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107502	0.77096	.	.	ENSG00000134330	ENST00000497473;ENST00000481688	T;T	0.13420	2.59;2.59	5.86	4.99	0.66335	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.047266	0.85682	D	0.000000	T	0.40909	0.1136	M	0.87900	2.915	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.44605	-0.9317	10	0.33141	T	0.24	-17.1532	17.199	0.86901	0.0:0.8741:0.1259:0.0	.	67	Q2TAA2	IAH1_HUMAN	S	67;42	ENSP00000417580:P67S;ENSP00000420532:P42S	ENSP00000420532:P42S	P	+	1	0	IAH1	9535866	1.000000	0.71417	0.443000	0.26883	0.997000	0.91878	5.450000	0.66626	1.481000	0.48307	0.655000	0.94253	CCA	IAH1	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.368	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1	C	NM_001039613		9618415	1	no_errors	ENST00000497473	ensembl	human	known	70_37	missense	SNP	0.998	T	T	9618415	C	T	9618415	3	4	101	1	0	0	0	0	1	0	0	0	7491	855	30	1	209	1	IAH1	2	9618415	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		9618415	233580958	37	14668										
UBXN2A	165324	genome.wustl.edu	37	chr2	24205898	24205898	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcaggacagggtcacagactAggaaggtaaatatgcctatt	11	7	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:24205898A>T	ENST00000309033.4	+	5	664	c.420A>T	c.(418-420)ctA>ctT	p.L140L	UBXN2A_ENST00000535786.1_Silent_p.L140L|UBXN2A_ENST00000404924.1_Silent_p.L140L|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	140					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTCACAGACTAGGAAGGTAAA	0.383																																																	0													87	89	88					2																	24205898		2203	4300	6503	SO:0001819	synonymous_variant	165324			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"UBX domain containing"	27265	protein-coding gene	gene with protein product			"UBX domain containing 4"	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.420A>T	2.37:g.24205898A>T			A8K577|B7ZKP8|Q569G8	Silent	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.L140	ENST00000309033.4	37	c.420	CCDS1704.1	2																																																																																			UBXN2A	-	superfamily_SEP_domain,smart_SEP_domain		0.383	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2A	HGNC	protein_coding	OTTHUMT00000246824.2	A	NM_181713		24205898	1	no_errors	ENST00000309033	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24205898	A	T	24205898	2	4	101	1	0	0	0	0	0	0	0	1	16945	407	15	5		5	UBXN2A	2	24205898	Silent	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	14587483	24205898	218993475	38	14669										
PLB1	151056	genome.wustl.edu	37	chr2	28863863	28863863	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agccaaactcaagtgcccctCtcctgtgagtaaacgtcctg	8	14	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:28863863C>G	ENST00000327757.5	+	57	4213	c.4169C>G	c.(4168-4170)tCt>tGt	p.S1390C	PLB1_ENST00000422425.2_Missense_Mutation_p.S1379C|AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000541605.1_Missense_Mutation_p.S355C	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1390	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGTGCCCCTCTCCTGTGAGT	0.602																																																	0													132	101	112					2																	28863863		2203	4300	6503	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4169C>G	2.37:g.28863863C>G	ENSP00000330442:p.Ser1390Cys		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.S1379C	ENST00000327757.5	37	c.4136	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.70|19.70	3.876389|3.876389	0.72180|0.72180	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000541605	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.527164	.|0.17713	.|N	.|0.164530	T|T	0.71384|0.71384	0.3333|0.3333	M|M	0.84511|0.84511	2.7|2.7	0.31624|0.31624	N|N	0.649907|0.649907	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.72075	.|0.976;0.959	T|T	0.77130|0.77130	-0.2701|-0.2701	5|10	.|0.72032	.|D	.|0.01	-12.9217|-12.9217	14.4125|14.4125	0.67124|0.67124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1379;1390	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	V|C	1378|1390;1379;355	.|ENSP00000330442:S1390C;ENSP00000416440:S1379C;ENSP00000437426:S355C	.|ENSP00000330442:S1390C	L|S	+|+	1|2	0|0	PLB1|PLB1	28717367|28717367	0.161000|0.161000	0.22892|0.22892	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	2.481000|2.481000	0.45215|0.45215	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	CTC|TCT	PLB1	-	NULL		0.602	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	C			28863863	1	no_errors	ENST00000422425	ensembl	human	known	70_37	missense	SNP	0.712	G	G	28863863	C	G	28863863	3	3	101	1	0	0	0	0	1	0	0	0	12048	913	32	1	4428	1	PLB1	2	28863863	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	4657965	28863863	214335510	39	14670										
CEBPZ	10153	genome.wustl.edu	37	chr2	37444136	37444136	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tttagactcacctgaaggatGgtctttgcaaaaagggccac	10	9	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:37444136G>T	ENST00000234170.5	-	6	2344	c.2199C>A	c.(2197-2199)acC>acA	p.T733T		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	733					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCTGAAGGATGGTCTTTGCAA	0.308																																																	0													64	69	67					2																	37444136		2203	4300	6503	SO:0001819	synonymous_variant	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2199C>A	2.37:g.37444136G>T			Q8NE75	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.T733	ENST00000234170.5	37	c.2199	CCDS1787.1	2																																																																																			CEBPZ	-	superfamily_ARM-type_fold		0.308	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	G	NM_005760		37444136	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	silent	SNP	0.997	T	T	37444136	G	T	37444136	2	4	101	1	0	0	0	0	0	0	0	1	3209	1335	47	4		4	CEBPZ	2	37444136	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	8580273	37444136	205755237	40	14671										
EPAS1	2034	genome.wustl.edu	37	chr2	46602874	46602874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggccagtaccggatgctcgCaaagcatgggggctacgtgt	15	10	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:46602874C>A	ENST00000263734.3	+	8	1442	c.932C>A	c.(931-933)gCa>gAa	p.A311E		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	311	PAC.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGGATGCTCGCAAAGCATGGG	0.597																																																	0													120	87	98					2																	46602874		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.932C>A	2.37:g.46602874C>A	ENSP00000263734:p.Ala311Glu		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.A311E	ENST00000263734.3	37	c.932	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019922	0.93462	.	.	ENSG00000116016	ENST00000263734	T	0.18657	2.2	5.31	5.31	0.75309	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66598	-0.5883	10	0.87932	D	0	.	18.9681	0.92704	0.0:1.0:0.0:0.0	.	311	Q99814	EPAS1_HUMAN	E	311	ENSP00000263734:A311E	ENSP00000263734:A311E	A	+	2	0	EPAS1	46456378	1.000000	0.71417	0.098000	0.21074	0.840000	0.47671	7.814000	0.86154	2.494000	0.84150	0.655000	0.94253	GCA	EPAS1	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAC,tigrfam_PAS		0.597	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46602874	1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46602874	C	A	46602874	3	1	101	1	0	0	0	0	1	0	0	0	5162	710	25	4	962	4	EPAS1	2	46602874	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9158738	46602874	196596499	41	14672										
APLF	200558	genome.wustl.edu	37	chr2	68753297	68753297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	taatttcatcaggaagttcaGaaaatacatcagcagaacaa	6	7	4	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:68753297G>A	ENST00000303795.4	+	6	898	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	243					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGGAAGTTCAGAAAATACATC	0.363																																																	0													108	111	110					2																	68753297		2203	4300	6503	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.727G>A	2.37:g.68753297G>A	ENSP00000307004:p.Glu243Lys		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.E243K	ENST00000303795.4	37	c.727	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	g	12.57	1.978160	0.34942	.	.	ENSG00000169621	ENST00000303795	T	0.25085	1.82	4.61	0.0228	0.14134	.	0.916352	0.09504	N	0.793238	T	0.18718	0.0449	L	0.45137	1.4	0.19775	N	0.999953	B;B	0.27316	0.175;0.003	B;B	0.23716	0.048;0.004	T	0.30966	-0.9960	10	0.22706	T	0.39	.	6.9147	0.24354	0.505:0.0:0.495:0.0	.	243;243	F8WET0;Q8IW19	.;APLF_HUMAN	K	243	ENSP00000307004:E243K	ENSP00000307004:E243K	E	+	1	0	APLF	68606801	0.999000	0.42202	0.694000	0.30210	0.844000	0.47949	0.354000	0.20146	-0.104000	0.12154	0.585000	0.79938	GAA	APLF	-	NULL		0.363	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	G	NM_173545		68753297	1	no_errors	ENST00000303795	ensembl	human	known	70_37	missense	SNP	0.921	A	A	68753297	G	A	68753297	3	1	101	1	0	0	0	0	1	0	0	0	776	943	33	1	749	1	APLF	2	68753297	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	22150423	68753297	174446076	42	14673										
ANTXR1	84168	genome.wustl.edu	37	chr2	69304566	69304567	+	Missense_Mutation	DNP	TC	TC	AT													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cggattgcggacagtaaggaTcatgtgtttcccgtgaatga							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:69304566_69304567TC>AT	ENST00000303714.4	+	8	910_911	c.588_589TC>AT	c.(586-591)gaTCat>gaATat	p.196_197DH>EY	ANTXR1_ENST00000409349.3_Missense_Mutation_p.196_197DH>EY|ANTXR1_ENST00000409829.3_Missense_Mutation_p.196_197DH>EY	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	196	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACAGTAAGGATCATGTGTTTCC	0.49									Familial Infantile Hemangioma																																								0																																										SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	Exception_encountered	2.37:g.69304566_69304567delinsAT	ENSP00000301945:p.D196_H197delinsEY		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D196E|p.H197Y	ENST00000303714.4	37	c.588|c.589	CCDS1892.1	2																																																																																			ANTXR1	-	pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.49	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	T|C	NM_032208		69304566|69304567	1	no_errors	ENST00000303714	ensembl	human	known	70_37	missense	SNP	0.663|0.950	A|T	AT	69304567	TC	AT	69304566	3	1	101	1	0	0	0	0	1	0	0	0	711	1432	50	5	618	5	ANTXR1	2	69304566	Missense_Mutation	DNP	TC	TCGA-EK-A2PM-01A-11D-A18J-09	551269	69304566	173894807	43	14674										
CYP26B1	56603	genome.wustl.edu	37	chr2	72361952	72361952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gctctcaatgaggaggtccaGggcgtccaagtagtccttgc	13	11	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:72361952G>T	ENST00000001146.2	-	4	1002	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	CYP26B1_ENST00000546307.1_Missense_Mutation_p.L192M|CYP26B1_ENST00000412253.1_Missense_Mutation_p.L76M	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	267					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGGAGGTCCAGGGCGTCCAAG	0.627																																																	0													161	127	138					2																	72361952		2203	4300	6503	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.799C>A	2.37:g.72361952G>T	ENSP00000001146:p.Leu267Met		B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.L267M	ENST00000001146.2	37	c.799	CCDS1919.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040285	0.75732	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.72835	-0.69;-0.69;-0.69	5.02	4.14	0.48551	.	0.000000	0.64402	D	0.000001	T	0.80639	0.4661	M	0.72479	2.2	0.51767	D	0.99993	D;D;P	0.71674	0.998;0.998;0.905	D;D;P	0.75484	0.986;0.98;0.806	T	0.81097	-0.1087	10	0.66056	D	0.02	0.004	8.9844	0.35986	0.1721:0.0:0.8279:0.0	.	192;250;267	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	M	267;76;192	ENSP00000001146:L267M;ENSP00000401465:L76M;ENSP00000443304:L192M	ENSP00000001146:L267M	L	-	1	2	CYP26B1	72215460	1.000000	0.71417	0.847000	0.33407	0.930000	0.56654	3.375000	0.52410	1.249000	0.43950	0.591000	0.81541	CTG	CYP26B1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	G	NM_019885		72361952	-1	no_errors	ENST00000001146	ensembl	human	known	70_37	missense	SNP	0.971	T	T	72361952	G	T	72361952	3	4	101	1	0	0	0	0	1	0	0	0	4161	991	35	4	751	4	CYP26B1	2	72361952	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3057386	72361952	170837421	44	14675										
SNRNP200	23020	genome.wustl.edu	37	chr2	96950262	96950262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggtctgtgctggtctcgcctGtcaggagtaccaccttcttg	12	12	4	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:96950262G>A	ENST00000323853.5	-	31	4303	c.4226C>T	c.(4225-4227)aCa>aTa	p.T1409I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1409	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCTCGCCTGTCAGGAGTAC	0.562																																																	0													184	147	160					2																	96950262		2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4226C>T	2.37:g.96950262G>A	ENSP00000317123:p.Thr1409Ile		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1409I	ENST00000323853.5	37	c.4226	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499139	0.85069	.	.	ENSG00000144028	ENST00000323853;ENST00000543553	T	0.38077	1.16	5.62	5.62	0.85841	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.89904	3.07	0.80722	D	1	P	0.52577	0.954	P	0.58873	0.847	T	0.71213	-0.4659	10	0.56958	D	0.05	-15.248	18.4325	0.90632	0.0:0.0:1.0:0.0	.	1409	O75643	U520_HUMAN	I	1409;43	ENSP00000317123:T1409I	ENSP00000317123:T1409I	T	-	2	0	SNRNP200	96313989	1.000000	0.71417	0.942000	0.38095	0.682000	0.39822	9.448000	0.97600	2.659000	0.90383	0.655000	0.94253	ACA	SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.562	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	G	NM_014014		96950262	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96950262	G	A	96950262	3	1	101	1	0	0	0	0	1	0	0	0	14882	1377	48	4	2244	4	SNRNP200	2	96950262	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	24588310	96950262	146249111	45	14676										
AFF3	3899	genome.wustl.edu	37	chr2	100343566	100343566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcgatgtgccactgtctggaCtctctggctctgcatcacct	9	14	4	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:100343566C>T	ENST00000409236.2	-	9	1176	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	AFF3_ENST00000356421.2_Missense_Mutation_p.S380N|AFF3_ENST00000317233.4_Missense_Mutation_p.S355N|AFF3_ENST00000409579.1_Missense_Mutation_p.S380N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	355					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACTGTCTGGACTCTCTGGCTC	0.343																																																	0													81	80	81					2																	100343566		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1064G>A	2.37:g.100343566C>T	ENSP00000387207:p.Ser355Asn		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S380N	ENST00000409236.2	37	c.1139	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924628	0.34002	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.26	5.26	0.73747	.	0.201610	0.35772	N	0.002998	T	0.51381	0.1671	L	0.27053	0.805	0.32599	N	0.526126	B;B;B;B	0.33171	0.4;0.208;0.043;0.093	B;B;B;B	0.40534	0.332;0.068;0.026;0.015	T	0.61267	-0.7097	10	0.35671	T	0.21	.	8.8711	0.35316	0.0:0.7681:0.1512:0.0807	.	509;509;355;380	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	N	355;380;380;355;355;509;380	ENSP00000317421:S355N;ENSP00000348793:S380N;ENSP00000386834:S380N;ENSP00000387207:S355N	ENSP00000317421:S355N	S	-	2	0	AFF3	99709998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.138000	0.31491	2.455000	0.83008	0.655000	0.94253	AGT	AFF3	-	pfam_TF_AF4/FMR2		0.343	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100343566	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100343566	C	T	100343566	3	4	101	1	0	0	0	0	1	0	0	0	358	565	20	4	2676	4	AFF3	2	100343566	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3393304	100343566	142855807	46	14677										
RPL31	6160	genome.wustl.edu	37	chr2	101619193	101619193	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcaaagaagggtggcgagaaGaaaaagggccgttctgccat	15	7	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:101619193G>T	ENST00000264258.3	+	2	631	c.30G>T	c.(28-30)aaG>aaT	p.K10N	RPL31_ENST00000409650.1_Missense_Mutation_p.K10N|RPL31_ENST00000409028.4_Missense_Mutation_p.K10N|RPL31_ENST00000409320.3_Missense_Mutation_p.K10N|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409733.1_Missense_Mutation_p.K10N|RPL31_ENST00000409038.1_Missense_Mutation_p.K10N|RPL31_ENST00000409711.1_Missense_Mutation_p.K10N|RPL31_ENST00000409000.1_Missense_Mutation_p.K10N	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GTGGCGAGAAGAAAAAGGGCC	0.537																																																	0													65	62	63					2																	101619193		2203	4300	6503	SO:0001583	missense	6160			X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"L ribosomal proteins"	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.30G>T	2.37:g.101619193G>T	ENSP00000264258:p.Lys10Asn		B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom	p.K10N	ENST00000264258.3	37	c.30	CCDS2049.1	2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195914	0.58126	.	.	ENSG00000071082	ENST00000264258;ENST00000409000;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292;ENST00000409711	.	.	.	5.28	4.33	0.51752	.	0.000000	0.85682	U	0.000000	D	0.85465	0.5703	H	0.95328	3.655	0.48395	D	0.999643	B;D;B;B;B;B	0.63046	0.023;0.992;0.317;0.078;0.022;0.07	B;D;B;B;B;B	0.68765	0.028;0.96;0.109;0.059;0.018;0.061	D	0.88514	0.3091	9	0.62326	D	0.03	.	13.2863	0.60245	0.128:0.0:0.872:0.0	.	10;10;10;10;10;10	B7Z4E3;B7Z4C8;B7Z4K2;B8ZZK4;Q6IRZ0;P62899	.;.;.;.;.;RL31_HUMAN	N	10	.	ENSP00000264258:K10N	K	+	3	2	RPL31	100985625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.853000	0.48317	2.736000	0.93811	0.655000	0.94253	AAG	RPL31	-	NULL		0.537	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL31	HGNC	protein_coding	OTTHUMT00000253182.3	G	NM_001098577		101619193	1	no_errors	ENST00000264258	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101619193	G	T	101619193	3	4	101	1	0	0	0	0	1	0	0	0	13611	933	33	3	32	3	RPL31	2	101619193	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1275627	101619193	141580180	47	14678										
GCC2	9648	genome.wustl.edu	37	chr2	109098845	109098845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agattttagaagtccagagaGccaaagcaatggtagacaaa	10	6	0	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:109098845G>C	ENST00000309863.6	+	11	3997	c.3283G>C	c.(3283-3285)Gcc>Ccc	p.A1095P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1095					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGTCCAGAGAGCCAAAGCAAT	0.323																																																	0													57	59	59					2																	109098845		2203	4296	6499	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3283G>C	2.37:g.109098845G>C	ENSP00000307939:p.Ala1095Pro		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.A1095P	ENST00000309863.6	37	c.3283	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517577	0.44763	.	.	ENSG00000135968	ENST00000309863	T	0.34275	1.37	5.32	2.55	0.30701	.	0.361847	0.27491	N	0.019137	T	0.31389	0.0795	L	0.57536	1.79	0.26495	N	0.974863	B	0.31009	0.303	B	0.31547	0.132	T	0.15235	-1.0444	10	0.31617	T	0.26	.	8.7243	0.34460	0.2356:0.0:0.7644:0.0	.	1095	Q8IWJ2	GCC2_HUMAN	P	1095	ENSP00000307939:A1095P	ENSP00000307939:A1095P	A	+	1	0	GCC2	108465277	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.068000	0.50018	0.635000	0.30488	-0.439000	0.05793	GCC	GCC2	-	NULL		0.323	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109098845	1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	0.998	C	C	109098845	G	C	109098845	3	2	101	1	0	0	0	0	1	0	0	0	6305	971	34	4	3325	4	GCC2	2	109098845	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7479652	109098845	134100528	48	14679										
DPP10	57628	genome.wustl.edu	37	chr2	116593781	116593781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcttaaaatcagatgaaaagCtttttaaatgtggatccgtg	8	5	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:116593781C>T	ENST00000410059.1	+	22	2479	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	DPP10_ENST00000393147.2_Missense_Mutation_p.L671F|DPP10_ENST00000409163.1_Missense_Mutation_p.L617F|DPP10_ENST00000310323.8_Missense_Mutation_p.L660F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	667						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGATGAAAAGCTTTTTAAATG	0.338																																																	0													85	84	84					2																	116593781		2203	4300	6503	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1999C>T	2.37:g.116593781C>T	ENSP00000386565:p.Leu667Phe		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L671F	ENST00000410059.1	37	c.2011	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855604	0.32791	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.67	-0.731	0.11151	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.409447	0.23876	N	0.043700	T	0.33498	0.0865	L	0.45137	1.4	0.25243	N	0.989733	B;B;B;B	0.15473	0.01;0.013;0.013;0.013	B;B;B;B	0.20577	0.017;0.025;0.03;0.03	T	0.20042	-1.0287	10	0.44086	T	0.13	-30.1652	6.1311	0.20204	0.1169:0.5344:0.0:0.3487	.	660;671;663;667	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	F	667;617;671;660	ENSP00000386565:L667F;ENSP00000387038:L617F;ENSP00000376855:L671F;ENSP00000309066:L660F	ENSP00000309066:L660F	L	+	1	0	DPP10	116310251	0.247000	0.23920	0.950000	0.38849	0.977000	0.68977	0.260000	0.18424	0.053000	0.16036	0.655000	0.94253	CTT	DPP10	-	pfam_Peptidase_S9		0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	C	NM_020868		116593781	1	no_errors	ENST00000393147	ensembl	human	known	70_37	missense	SNP	0.255	T	T	116593781	C	T	116593781	3	4	101	1	0	0	0	0	1	0	0	0	4737	797	28	4	2256	4	DPP10	2	116593781	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	7494936	116593781	126605592	49	14680										
GLI2	2736	genome.wustl.edu	37	chr2	121726386	121726386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgccagcctggacctgcagcGgatgatccgcacctcaccca	10	18	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:121726386G>A	ENST00000452319.1	+	6	800	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R247Q					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GACCTGCAGCGGATGATCCGC	0.667																																																	0													83	75	77					2																	121726386		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.740G>A	2.37:g.121726386G>A	ENSP00000390436:p.Arg247Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R247Q	ENST00000452319.1	37	c.740	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555072	0.86231	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.69926	-0.44;-0.44	4.91	3.99	0.46301	.	0.056986	0.64402	D	0.000002	T	0.42877	0.1222	N	0.08118	0	0.80722	D	1	D;P	0.54047	0.964;0.741	B;B	0.38156	0.266;0.105	T	0.54450	-0.8292	10	0.62326	D	0.03	.	12.1399	0.53993	0.0:0.3758:0.6242:0.0	.	247;247	P10070;Q0VGA0	GLI2_HUMAN;.	Q	247	ENSP00000390436:R247Q;ENSP00000354586:R247Q	ENSP00000354586:R247Q	R	+	2	0	GLI2	121442856	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	6.572000	0.74005	2.557000	0.86248	0.655000	0.94253	CGG	GLI2	-	NULL		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	G	NM_005270		121726386	1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121726386	G	A	121726386	3	1	101	1	0	0	0	0	1	0	0	0	6457	1116	39	2	758	2	GLI2	2	121726386	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5132605	121726386	121472987	50	14681										
CCDC74A	90557	genome.wustl.edu	37	chr2	132288392	132288392	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccagtctgtcaagtccatctCtaattcaggtgagcaggctg	10	11	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:132288392C>G	ENST00000295171.6	+	3	674	c.536C>G	c.(535-537)tCt>tGt	p.S179C	CCDC74A_ENST00000409856.3_Missense_Mutation_p.S113C|CCDC74A_ENST00000467992.2_Missense_Mutation_p.S281C	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	179										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTCCATCTCTAATTCAGGT	0.647																																																	0													48	54	52					2																	132288392		2202	4296	6498	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.536C>G	2.37:g.132288392C>G	ENSP00000295171:p.Ser179Cys		Q6P4I5	Missense_Mutation	SNP	NULL	p.S179C	ENST00000295171.6	37	c.536	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	14.04	2.416328	0.42918	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.56444	1.8;1.71;0.46;0.57	2.13	2.13	0.27403	.	0.834089	0.09646	U	0.774326	T	0.66066	0.2752	M	0.67953	2.075	0.09310	N	0.999993	P;D	0.76494	0.454;0.999	B;D	0.65684	0.09;0.937	T	0.50906	-0.8772	10	0.66056	D	0.02	-8.5547	7.7472	0.28875	0.0:1.0:0.0:0.0	.	113;179	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	C	179;113;108;281	ENSP00000295171:S179C;ENSP00000387009:S113C;ENSP00000406839:S108C;ENSP00000444610:S281C	ENSP00000295171:S179C	S	+	2	0	CCDC74A	132004862	0.016000	0.18221	0.090000	0.20809	0.171000	0.22731	3.333000	0.52090	1.192000	0.43071	0.194000	0.17425	TCT	CCDC74A	-	NULL		0.647	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	C	NM_138770		132288392	1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.222	G	G	132288392	C	G	132288392	3	3	101	1	0	0	0	0	1	0	0	0	2852	913	32	1	546	1	CCDC74A	2	132288392	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	10562006	132288392	110910981	51	14682										
TMEM163	81615	genome.wustl.edu	37	chr2	135214288	135214288	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atgcggatgctggcccccttCactcaaacatctcgtagtga	9	13	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:135214288C>T	ENST00000281924.6	-	8	933	c.869G>A	c.(868-870)tGa>tAa	p.*290*		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	0						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TGGCCCCCTTCACTCAAACAT	0.502																																																	0													104	79	88					2																	135214288		2203	4300	6503	SO:0001819	synonymous_variant	81615				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.869G>A	2.37:g.135214288C>T			Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Silent	SNP	NULL	p.*290	ENST00000281924.6	37	c.869	CCDS2172.1	2																																																																																			TMEM163	-	NULL		0.502	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	HGNC	protein_coding	OTTHUMT00000254631.2	C	NM_030923		135214288	-1	no_errors	ENST00000281924	ensembl	human	known	70_37	silent	SNP	1.000	T	T	135214288	C	T	135214288	2	4	101	1	0	0	0	0	0	0	0	1	16108	837	29	1		1	TMEM163	2	135214288	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2925896	135214288	107985085	52	14683										
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135888131	135888131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctttttatagaaactgctgAtataactcatgctttgtcaa	5	7	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:135888131A>G	ENST00000264158.8	+	13	1119	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D359G|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D315G|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	359					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GAAACTGCTGATATAACTCAT	0.303																																																	0													34	37	36					2																	135888131		2203	4298	6501	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1076A>G	2.37:g.135888131A>G	ENSP00000264158:p.Asp359Gly		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.D359G	ENST00000264158.8	37	c.1076	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.255395	0.80135	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.71103	-0.54;-0.54;-0.54	5.29	5.29	0.74685	.	0.093515	0.64402	D	0.000001	T	0.68375	0.2994	L	0.59436	1.845	0.58432	D	0.999999	P;P	0.42456	0.78;0.78	B;B	0.40636	0.335;0.335	T	0.68788	-0.5316	10	0.33940	T	0.23	-21.4662	15.2313	0.73390	1.0:0.0:0.0:0.0	.	359;359	C9J837;Q15042	.;RB3GP_HUMAN	G	359;315;359	ENSP00000264158:D359G;ENSP00000444306:D315G;ENSP00000411418:D359G	ENSP00000264158:D359G	D	+	2	0	RAB3GAP1	135604601	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.569000	0.90744	2.004000	0.58718	0.482000	0.46254	GAT	RAB3GAP1	-	NULL		0.303	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	A	NM_012233		135888131	1	no_errors	ENST00000264158	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135888131	A	G	135888131	3	3	101	1	0	0	0	0	1	0	0	0	12965	333	12	5	1126	5	RAB3GAP1	2	135888131	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	673843	135888131	107311242	53	14684										
THSD7B	80731	genome.wustl.edu	37	chr2	137988727	137988727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agtggacggagtggtcatccTgttcccagtcctgttcaaat	11	10	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:137988727T>C	ENST00000409968.1	+	8	2015	c.1837T>C	c.(1837-1839)Tgt>Cgt	p.C613R	THSD7B_ENST00000413152.2_Missense_Mutation_p.C582R|THSD7B_ENST00000272643.3_Missense_Mutation_p.C613R|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	613	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTCATCCTGTTCCCAGTC	0.512																																																	0													69	70	70					2																	137988727		1966	4149	6115	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1837T>C	2.37:g.137988727T>C	ENSP00000387145:p.Cys613Arg			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C613R	ENST00000409968.1	37	c.1837		2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505542	0.85282	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	D;D;D	0.98585	-5.01;-5.01;-5.01	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97849	1.0273	10	0.72032	D	0.01	.	16.3109	0.82869	0.0:0.0:0.0:1.0	.	613;582	Q9C0I4;C9JKN6	THS7B_HUMAN;.	R	613;613;582	ENSP00000387145:C613R;ENSP00000272643:C613R;ENSP00000413841:C582R	ENSP00000272643:C613R	C	+	1	0	THSD7B	137705197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.257000	0.74773	0.460000	0.39030	TGT	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	T	XM_046570.9		137988727	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137988727	T	C	137988727	3	2	101	1	0	0	0	0	1	0	0	0	15910	1580	55	5	1770	5	THSD7B	2	137988727	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	2100596	137988727	105210646	54	14685										
XIRP2	129446	genome.wustl.edu	37	chr2	168115064	168115064	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atgtgattgtgcagagtgctGaaaaggagaaaaatgaaaaa	12	2	0	5			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:168115064G>A	ENST00000409728.1	+	11	2196	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	XIRP2_ENST00000420519.1_Missense_Mutation_p.E703K|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E670K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E448K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E670K|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAGAGTGCTGAAAAGGAGAA	0.363																																																	0													43	41	42					2																	168115064		1894	4111	6005	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2107G>A	2.37:g.168115064G>A	ENSP00000386619:p.Glu703Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E703K	ENST00000409728.1	37	c.2107	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184995	0.78677	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80909	-1.4;-1.4;-1.4;-1.4;-1.43	5.67	5.67	0.87782	.	.	.	.	.	T	0.73257	0.3564	.	.	.	0.80722	D	1	B;B	0.34329	0.277;0.449	B;B	0.35550	0.205;0.177	T	0.73148	-0.4074	8	0.51188	T	0.08	.	8.9794	0.35955	0.074:0.0:0.7776:0.1485	.	670;703	A4UGR9-4;A4UGR9-6	.;.	K	670;703;670;703;448	ENSP00000386454:E670K;ENSP00000386619:E703K;ENSP00000386724:E670K;ENSP00000415541:E703K;ENSP00000386981:E448K	ENSP00000386454:E670K	E	+	1	0	XIRP2	167823310	0.983000	0.35010	0.962000	0.40283	0.937000	0.57800	2.820000	0.48057	2.681000	0.91329	0.561000	0.74099	GAA	XIRP2	-	NULL		0.363	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168115064	1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.997	A	A	168115064	G	A	168115064	3	1	101	1	0	0	0	0	1	0	0	0	17461	1291	45	1	11425	1	XIRP2	2	168115064	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	30126337	168115064	75084309	55	14686										
XIRP2	129446	genome.wustl.edu	37	chr2	168115687	168115687	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttggatttaagggaatttggAaaggatgttaaaccttggca	12	3	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:168115687A>T	ENST00000409728.1	+	11	2819	c.2730A>T	c.(2728-2730)ggA>ggT	p.G910G	XIRP2_ENST00000420519.1_Silent_p.G910G|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Silent_p.G877G|XIRP2_ENST00000409605.1_Silent_p.G655G|XIRP2_ENST00000409756.2_Silent_p.G877G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGAATTTGGAAAGGATGTTA	0.353																																																	0													83	75	78					2																	168115687		1849	4087	5936	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2730A>T	2.37:g.168115687A>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G910	ENST00000409728.1	37	c.2730	CCDS56143.1	2																																																																																			XIRP2	-	NULL		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	A	NM_152381		168115687	1	no_errors	ENST00000420519	ensembl	human	known	70_37	silent	SNP	0.004	T	T	168115687	A	T	168115687	2	4	101	1	0	0	0	0	0	0	0	1	17461	233	9	5		5	XIRP2	2	168115687	Silent	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	623	168115687	75083686	56	14687										
LRP2	4036	genome.wustl.edu	37	chr2	170060714	170060714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atagagagtcaagccaaaagCatgaacggctgcattgacaa	10	8	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:170060714C>A	ENST00000263816.3	-	42	8068	c.7783G>T	c.(7783-7785)Gct>Tct	p.A2595S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2595					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AAGCCAAAAGCATGAACGGCT	0.428																																																	0													163	171	168					2																	170060714		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7783G>T	2.37:g.170060714C>A	ENSP00000263816:p.Ala2595Ser		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A2595S	ENST00000263816.3	37	c.7783	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321735	0.23994	.	.	ENSG00000081479	ENST00000263816	D	0.96104	-3.91	5.78	0.288	0.15719	Six-bladed beta-propeller, TolB-like (1);	0.224065	0.47455	N	0.000234	D	0.85561	0.5725	N	0.05124	-0.11	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.71244	-0.4650	10	0.45353	T	0.12	.	5.4038	0.16310	0.0806:0.2417:0.538:0.1397	.	2595	P98164	LRP2_HUMAN	S	2595	ENSP00000263816:A2595S	ENSP00000263816:A2595S	A	-	1	0	LRP2	169768960	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.349000	0.52217	-0.257000	0.09459	-0.302000	0.09304	GCT	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170060714	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.983	A	A	170060714	C	A	170060714	3	1	101	1	0	0	0	0	1	0	0	0	8979	710	25	4	6336	4	LRP2	2	170060714	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1945027	170060714	73138659	57	14688										
HAT1	8520	genome.wustl.edu	37	chr2	172844210	172844210	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgactactggtaactgacatGagtgatgccgaacaatacag	10	9	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:172844210G>A	ENST00000264108.4	+	10	1062	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	HAT1_ENST00000392584.1_Missense_Mutation_p.M257I|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	342					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TAACTGACATGAGTGATGCCG	0.338																																																	0													132	135	134					2																	172844210		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1026G>A	2.37:g.172844210G>A	ENSP00000264108:p.Met342Ile		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.M342I	ENST00000264108.4	37	c.1026	CCDS2245.1	2	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162245	0.38217	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.17433	0.018;0.008	T	0.44982	-0.9292	9	0.87932	D	0	-33.1113	20.2228	0.98330	0.0:0.0:1.0:0.0	.	257;342	O14929-2;O14929	.;HAT1_HUMAN	I	257;342	.	ENSP00000264108:M342I	M	+	3	0	HAT1	172552456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	2.789000	0.95967	0.655000	0.94253	ATG	HAT1	-	pirsf_Hist_AcTrfase_B-typ_cat-su		0.338	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	G	NM_003642		172844210	1	no_errors	ENST00000264108	ensembl	human	known	70_37	missense	SNP	1.000	A	A	172844210	G	A	172844210	3	1	101	1	0	0	0	0	1	0	0	0	6984	1290	45	1	1064	1	HAT1	2	172844210	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2783496	172844210	70355163	58	14689										
COL3A1	1281	genome.wustl.edu	37	chr2	189875551	189875551	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgaagctgatggggtcaaatGaaggtgaattcaaggctgaa	14	4	2	5			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:189875551G>A	ENST00000304636.3	+	50	4359	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E1094K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1397	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGGGTCAAATGAAGGTGAATT	0.423																																																	0													90	83	85					2																	189875551		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4189G>A	2.37:g.189875551G>A	ENSP00000304408:p.Glu1397Lys		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1397K	ENST00000304636.3	37	c.4189	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508257	0.85282	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.74842	-0.88;-0.88	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (4);	0.378661	0.22387	N	0.060739	T	0.78278	0.4258	M	0.82132	2.575	0.45837	D	0.998704	P	0.35493	0.505	B	0.37015	0.239	T	0.78204	-0.2295	10	0.36615	T	0.2	.	18.9332	0.92574	0.0:0.0:1.0:0.0	.	1397	P02461	CO3A1_HUMAN	K	1397;1094	ENSP00000304408:E1397K;ENSP00000315243:E1094K	ENSP00000304408:E1397K	E	+	1	0	COL3A1	189583796	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.481000	0.83766	0.655000	0.94253	GAA	COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.423	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	G	NM_000090		189875551	1	no_errors	ENST00000304636	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189875551	G	A	189875551	3	1	101	1	0	0	0	0	1	0	0	0	3693	1291	45	1	4387	1	COL3A1	2	189875551	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	17031341	189875551	53323822	59	14690										
ZDBF2	57683	genome.wustl.edu	37	chr2	207170956	207170956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cttcggaagaaggctcatacCagcttggttgataactatgg	11	8	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:207170956C>T	ENST00000374423.3	+	5	2090	c.1704C>T	c.(1702-1704)acC>acT	p.T568T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	568							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGCTCATACCAGCTTGGTTG	0.443																																																	0													97	88	91					2																	207170956		1881	4120	6001	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1704C>T	2.37:g.207170956C>T			Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.T568	ENST00000374423.3	37	c.1704	CCDS46501.1	2																																																																																			ZDBF2	-	NULL		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207170956	1	no_errors	ENST00000374423	ensembl	human	known	70_37	silent	SNP	0.000	T	T	207170956	C	T	207170956	2	4	101	1	0	0	0	0	0	0	0	1	17629	581	21	4		4	ZDBF2	2	207170956	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	17295405	207170956	36028417	60	14691										
FZD5	7855	genome.wustl.edu	37	chr2	208633032	208633032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttgtaatccatgcagaggacCtcggcgtcgcggcccagcac	12	14	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:208633032C>T	ENST00000295417.3	-	2	985	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	144	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGCAGAGGACCTCGGCGTCGC	0.741																																																	0													4	5	5					2																	208633032		1914	3887	5801	SO:0001819	synonymous_variant	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.432G>A	2.37:g.208633032C>T			A8K2X1|B2RCZ1|Q53R22	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E144	ENST00000295417.3	37	c.432	CCDS33366.1	2																																																																																			FZD5	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.741	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	C	NM_003468		208633032	-1	no_errors	ENST00000295417	ensembl	human	known	70_37	silent	SNP	0.837	T	T	208633032	C	T	208633032	2	4	101	1	0	0	0	0	0	0	0	1	6151	680	24	4		4	FZD5	2	208633032	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1462076	208633032	34566341	61	14692										
MAP2	4133	genome.wustl.edu	37	chr2	210594966	210594966	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cccgtgtggaccatggggctGagatcattacacagtcccca	11	13	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:210594966G>T	ENST00000360351.4	+	15	5835	c.5329G>T	c.(5329-5331)Gag>Tag	p.E1777*	MAP2_ENST00000361559.4_Nonsense_Mutation_p.E421*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.E421*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.E509*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E1773*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1777					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCATGGGGCTGAGATCATTAC	0.512																																					Pancreas(27;423 979 28787 29963)												0													91	82	85					2																	210594966		2203	4300	6503	SO:0001587	stop_gained	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5329G>T	2.37:g.210594966G>T	ENSP00000353508:p.Glu1777*		Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1777*	ENST00000360351.4	37	c.5329	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.389320	0.99739	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	.	.	.	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.7017	19.3354	0.94316	0.0:0.0:1.0:0.0	.	.	.	.	X	509;1777;421;421;1773	.	ENSP00000199940:E509X	E	+	1	0	MAP2	210303211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.571000	0.86741	0.650000	0.86243	GAG	MAP2	-	NULL		0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594966	1	no_errors	ENST00000360351	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	210594966	G	T	210594966	4	4	101	1	0	0	0	0	0	1	0	0	9258	1291	45	3	5647	3	MAP2	2	210594966	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1961934	210594966	32604407	62	14693										
MYL1	4632	genome.wustl.edu	37	chr2	211179765	211179766	+	Start_Codon_Ins	INS	-	-	T													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacgtctttctttggtgccaINStttttttttttaaaagggtg					rs544557603	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:211179765_211179766insT	ENST00000352451.3	-	0	148_149					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CTTTGGTGCCATTTTTTTTTTT	0.525														203	0.0405351	0.1165	0.0101	5008	,	,		15517	0.0169		0.008	False		,,,				2504	0.0174																0																																										SO:0001582	initiator_codon_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.2dupA	2.37:g.211179776_211179776dupT			B2R4N6|B2R4T6|P06741|Q6IBD5	Frame_Shift_Ins	INS	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1fs	ENST00000352451.3	37	c.2_1	CCDS2390.1	2																																																																																			MYL1	-	NULL		0.525	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	-	NM_079420		211179766	-1	no_errors	ENST00000352451	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	211179766	-	T	211179765	7	5	101	1	0	1	1	0	0	0	0	0	10066	217	8	0	642	0	MYL1	2	211179765	Start_Codon_Ins	INS	-	TCGA-EK-A2PM-01A-11D-A18J-09	584799	211179765	32019608	63	14694										
FN1	2335	genome.wustl.edu	37	chr2	216226710	216226710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acagtgtttgttctctgatgGtatctctgagaatactggtt	10	6	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:216226710G>A	ENST00000359671.1	-	44	7336	c.7071C>T	c.(7069-7071)taC>taT	p.Y2357Y	FN1_ENST00000336916.4_Silent_p.Y2326Y|FN1_ENST00000356005.4_Silent_p.Y2267Y|FN1_ENST00000354785.4_Silent_p.Y2448Y|FN1_ENST00000323926.6_Silent_p.Y2417Y|FN1_ENST00000432072.2_Silent_p.Y2238Y|FN1_ENST00000346544.3_Silent_p.Y2182Y|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000345488.5_Silent_p.Y2155Y|FN1_ENST00000357867.4_Silent_p.Y2147Y|FN1_ENST00000446046.1_Silent_p.Y2301Y|FN1_ENST00000443816.1_Silent_p.Y2236Y|FN1_ENST00000421182.1_Silent_p.Y2211Y			P02751	FINC_HUMAN	fibronectin 1	2357					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTCTCTGATGGTATCTCTGAG	0.498																																																	0													141	125	130					2																	216226710		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7071C>T	2.37:g.216226710G>A			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.Y2448	ENST00000359671.1	37	c.7344		2																																																																																			FN1	-	NULL		0.498	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216226710	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	silent	SNP	1.000	A	A	216226710	G	A	216226710	2	1	101	1	0	0	0	0	0	0	0	1	5980	1256	44	4		4	FN1	2	216226710	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5046945	216226710	26972663	64	14695										
FN1	2335	genome.wustl.edu	37	chr2	216239952	216239952	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aataccagtaatagtagcctCtgtgacaccagggcggggcc	12	11	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:216239952C>T	ENST00000359671.1	-	37	6134	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	FN1_ENST00000336916.4_Missense_Mutation_p.E1957K|FN1_ENST00000356005.4_Missense_Mutation_p.E1867K|FN1_ENST00000354785.4_Missense_Mutation_p.E2048K|FN1_ENST00000323926.6_Missense_Mutation_p.E2048K|FN1_ENST00000432072.2_Missense_Mutation_p.E1958K|FN1_ENST00000346544.3_Missense_Mutation_p.E1957K|FN1_ENST00000357009.2_Missense_Mutation_p.E1957K|FN1_ENST00000345488.5_Missense_Mutation_p.E1957K|FN1_ENST00000357867.4_Missense_Mutation_p.E1867K|FN1_ENST00000446046.1_Missense_Mutation_p.E1957K|FN1_ENST00000443816.1_Missense_Mutation_p.E1867K|FN1_ENST00000421182.1_Missense_Mutation_p.E1867K			P02751	FINC_HUMAN	fibronectin 1	1957	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATAGTAGCCTCTGTGACACCA	0.527																																																	0													82	87	85					2																	216239952		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5869G>A	2.37:g.216239952C>T	ENSP00000352696:p.Glu1957Lys		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E2048K	ENST00000359671.1	37	c.6142		2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564943	0.65651	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.66157	0.2761	L	0.37697	1.125	0.26627	N	0.972536	P;D;D;P;P;D;D;P;D;D;D;D;D	0.71674	0.864;0.968;0.982;0.825;0.53;0.982;0.998;0.658;0.986;0.982;0.982;0.994;0.998	D;D;D;P;P;D;D;P;D;D;D;D;D	0.87578	0.918;0.991;0.991;0.57;0.531;0.991;0.998;0.531;0.995;0.991;0.991;0.996;0.998	T	0.61983	-0.6950	10	0.66056	D	0.02	.	19.3625	0.94446	0.0:1.0:0.0:0.0	.	1748;1957;1958;2048;1867;1867;1957;1957;1958;1867;1867;2048;1957	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	K	1867;2048;1957;1867;2048;1958;1957;1957;1957;1957;1957;1867;1958;1867;674;76	ENSP00000394423:E1867K;ENSP00000323534:E2048K;ENSP00000338200:E1957K;ENSP00000350534:E1867K;ENSP00000346839:E2048K;ENSP00000352696:E1957K;ENSP00000265312:E1957K;ENSP00000273049:E1957K;ENSP00000349509:E1957K;ENSP00000410422:E1957K;ENSP00000415018:E1867K;ENSP00000399538:E1958K;ENSP00000348285:E1867K;ENSP00000416139:E674K;ENSP00000392565:E76K	ENSP00000265313:E1958K	E	-	1	0	FN1	215948197	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.050000	0.64251	2.560000	0.86352	0.563000	0.77884	GAG	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		C	NM_212476		216239952	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	0.999	T	T	216239952	C	T	216239952	3	4	101	1	0	0	0	0	1	0	0	0	5980	922	32	1	1327	1	FN1	2	216239952	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	13242	216239952	26959421	65	14696										
COL4A4	1286	genome.wustl.edu	37	chr2	227895255	227895255	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggccctggtagaccacagtCacctggctcccctctcagaa	9	16	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:227895255C>T	ENST00000396625.3	-	41	4084	c.3877G>A	c.(3877-3879)Gac>Aac	p.D1293N	COL4A4_ENST00000329662.7_Missense_Mutation_p.D1293N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1293	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGACCACAGTCACCTGGCTCC	0.552																																																	0													84	81	82					2																	227895255		1894	4117	6011	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3877G>A	2.37:g.227895255C>T	ENSP00000379866:p.Asp1293Asn		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D1293N	ENST00000396625.3	37	c.3877	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669072	0.47677	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94232	-3.38;-3.28	5.69	5.69	0.88448	.	.	.	.	.	D	0.94542	0.8242	L	0.52823	1.66	0.44579	D	0.99754	D	0.69078	0.997	D	0.66497	0.944	D	0.91694	0.5368	9	0.11182	T	0.66	.	15.3115	0.74035	0.0:1.0:0.0:0.0	.	1293	P53420	CO4A4_HUMAN	N	1293	ENSP00000379866:D1293N;ENSP00000328553:D1293N	ENSP00000328553:D1293N	D	-	1	0	COL4A4	227603499	0.994000	0.37717	0.981000	0.43875	0.771000	0.43674	2.741000	0.47426	2.682000	0.91365	0.609000	0.83330	GAC	COL4A4	-	pfam_Collagen		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	C	NM_000092		227895255	-1	no_errors	ENST00000396625	ensembl	human	known	70_37	missense	SNP	0.993	T	T	227895255	C	T	227895255	3	4	101	1	0	0	0	0	1	0	0	0	3698	826	29	1	1227	1	COL4A4	2	227895255	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	11655303	227895255	15304118	66	14697										
SPHKAP	80309	genome.wustl.edu	37	chr2	228883518	228883518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcgattatcatatttttgtgGtgaacttcatcaatggaatg	8	5	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:228883518G>T	ENST00000392056.3	-	7	2098	c.2052C>A	c.(2050-2052)caC>caA	p.H684Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.H684Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	684						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTTTTGTGGTGAACTTCAT	0.403																																																	0													255	234	241					2																	228883518		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2052C>A	2.37:g.228883518G>T	ENSP00000375909:p.His684Gln		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.H684Q	ENST00000392056.3	37	c.2052	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223770	0.09863	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.48522	0.81;0.81	5.62	3.83	0.44106	.	0.635145	0.17599	N	0.168477	T	0.40670	0.1126	L	0.53249	1.67	0.25624	N	0.986361	B;B	0.28850	0.09;0.225	B;B	0.28305	0.021;0.088	T	0.36890	-0.9729	10	0.52906	T	0.07	.	7.1235	0.25458	0.1524:0.1472:0.7004:0.0	.	684;684	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	684	ENSP00000375909:H684Q;ENSP00000339886:H684Q	ENSP00000339886:H684Q	H	-	3	2	SPHKAP	228591762	0.981000	0.34729	0.200000	0.23457	0.485000	0.33311	1.640000	0.37186	0.844000	0.35094	0.655000	0.94253	CAC	SPHKAP	-	NULL		0.403	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228883518	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.824	T	T	228883518	G	T	228883518	3	4	101	1	0	0	0	0	1	0	0	0	15078	1252	44	4	3074	4	SPHKAP	2	228883518	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	988263	228883518	14315855	67	14698										
VGLL4	10533	genome.wustl.edu	37	chr3	11600915	11600915	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccagccgaggcacaggtgatCacggagggccggttctgcgg	17	12	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:11600915C>T	ENST00000354449.3	+	0	4959				VGLL4_ENST00000451674.2_Silent_p.V84V|VGLL4_ENST00000413604.1_Silent_p.V105V|VGLL4_ENST00000424529.2_Silent_p.V80V|VGLL4_ENST00000273038.3_Silent_p.V164V|VGLL4_ENST00000404339.1_Silent_p.V169V|VGLL4_ENST00000430365.2_Silent_p.V170V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACAGGTGATCACGGAGGGCC	0.706																																																	0													21	21	21					3																	11600915		2178	4262	6440	SO:0001628	intergenic_variant	9686			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600915C>T			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	smart_TDU_repeat	p.V170	ENST00000354449.3	37	c.510	CCDS2605.1	3																																																																																			VGLL4	-	NULL		0.706	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL4	HGNC	protein_coding	OTTHUMT00000251951.3	C	NM_006395		11600915	-1	no_errors	ENST00000430365	ensembl	human	known	70_37	silent	SNP	0.997	T	T	11600915	C	T	11600915	1	4	101	0	1	0	0	0	0	0	0	0	17192	813	29	1		1	VGLL4	3	11600915	IGR	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		11600915	186421515	68	14699										
BTD	686	genome.wustl.edu	37	chr3	15686759	15686759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccctggtcaggtgtgggggtCttggcttcgacacctgtgga	16	10	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:15686759C>G	ENST00000303498.5	+	4	1505	c.1396C>G	c.(1396-1398)Ctt>Gtt	p.L466V	BTD_ENST00000437172.1_Missense_Mutation_p.L468V|BTD_ENST00000449107.1_Missense_Mutation_p.L468V|BTD_ENST00000383778.4_Missense_Mutation_p.L446V	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	466					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.L466V(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GTGTGGGGGTCTTGGCTTCGA	0.502																																																	1	Substitution - Missense(1)	breast(1)											100	103	102					3																	15686759		2203	4300	6503	SO:0001583	missense	686			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1396C>G	3.37:g.15686759C>G	ENSP00000306477:p.Leu466Val		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.L466V	ENST00000303498.5	37	c.1396	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803053	0.16397	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.58	3.76	0.43208	.	0.960141	0.08721	N	0.903431	D	0.83482	0.5264	M	0.65975	2.015	0.09310	N	1	B;B;B	0.31485	0.325;0.325;0.325	B;B;B	0.23852	0.049;0.049;0.049	T	0.68796	-0.5314	10	0.30078	T	0.28	-44.0565	7.34	0.26632	0.1283:0.6807:0.1236:0.0673	.	468;468;466	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	V	468;466;468;446	ENSP00000388212:L468V;ENSP00000306477:L466V;ENSP00000400995:L468V;ENSP00000373288:L446V	ENSP00000306477:L466V	L	+	1	0	BTD	15661763	0.000000	0.05858	0.019000	0.16419	0.964000	0.63967	1.261000	0.32980	0.697000	0.31718	0.561000	0.74099	CTT	BTD	-	pirsf_Biotinidase_euk		0.502	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2	C	NM_000060		15686759	1	no_errors	ENST00000303498	ensembl	human	known	70_37	missense	SNP	0.000	G	G	15686759	C	G	15686759	3	3	101	1	0	0	0	0	1	0	0	0	1553	913	32	1	1410	1	BTD	3	15686759	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	4085844	15686759	182335671	69	14700										
GALNTL2	117248	genome.wustl.edu	37	chr3	16216965	16216966	+	Missense_Mutation	DNP	CA	CA	AG													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggtggccgtggccttacccCaggccagaaggaaccagagc							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:16216965_16216966CA>AG	ENST00000339732.5	+	1	810_811	c.307_308CA>AG	c.(307-309)CAg>AGg	p.Q103R	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.Q103R	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	103					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGCCTTACCCCAGGCCAGAAGG	0.624																																																	0																																										SO:0001583	missense	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	Exception_encountered	3.37:g.16216965_16216966delinsAG	ENSP00000344260:p.Gln103Arg		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q103K|p.Q103R	ENST00000339732.5	37	c.307|c.308	CCDS33711.1	3																																																																																			GALNTL2	-	NULL		0.624	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL2	HGNC	protein_coding	OTTHUMT00000346483.2	C|A	NM_054110		16216965|16216966	1	no_errors	ENST00000339732	ensembl	human	known	70_37	missense	SNP	0.989|0.988	A|G	AG	16216966	CA	AG	16216965	3	1	101	1	0	0	0	0	1	0	0	0	6241	595	21	4	309	4	GALNTL2	3	16216965	Missense_Mutation	DNP	CA	TCGA-EK-A2PM-01A-11D-A18J-09	530206	16216965	181805465	70	14701										
NEK10	152110	genome.wustl.edu	37	chr3	27387639	27387639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgaccccgagctctgtgtccAcccgccctgatggcgggctc	12	17	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:27387639A>G	ENST00000429845.2	-	5	563	c.201T>C	c.(199-201)ggT>ggC	p.G67G	NEK10_ENST00000341435.5_Silent_p.G67G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	67			G -> S (in dbSNP:rs55958314). {ECO:0000269|PubMed:17344846}.		positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCTGTGTCCACCCGCCCTGA	0.468																																																	0													102	96	98					3																	27387639		1568	3582	5150	SO:0001819	synonymous_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.201T>C	3.37:g.27387639A>G			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G67	ENST00000429845.2	37	c.201		3																																																																																			NEK10	-	NULL		0.468	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	A	NM_152534		27387639	-1	no_errors	ENST00000341435	ensembl	human	known	70_37	silent	SNP	0.440	G	G	27387639	A	G	27387639	2	3	101	1	0	0	0	0	0	0	0	1	10346	146	6	5		5	NEK10	3	27387639	Silent	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	11170674	27387639	170634791	71	14702										
ARPP21	10777	genome.wustl.edu	37	chr3	35785442	35785442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggagtcaacagatgccacagGcagcacagcaagcaggtact	12	11	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:35785442G>A	ENST00000187397.4	+	18	2473	c.2017G>A	c.(2017-2019)Gca>Aca	p.A673T	ARPP21_ENST00000444190.1_Missense_Mutation_p.A654T|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000417925.1_Missense_Mutation_p.A674T|ARPP21_ENST00000337271.5_Missense_Mutation_p.A654T|ARPP21_ENST00000458225.1_Missense_Mutation_p.A674T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	673	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GATGCCACAGGCAGCACAGCA	0.498																																																	0													110	105	106					3																	35785442		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2017G>A	3.37:g.35785442G>A	ENSP00000187397:p.Ala673Thr		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.A674T	ENST00000187397.4	37	c.2020	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	8.601	0.886806	0.17540	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.82	-0.585	0.11698	.	0.740897	0.13512	N	0.382382	T	0.27559	0.0677	N	0.11201	0.11	0.09310	N	0.999994	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.11329	0.002;0.006;0.001;0.002	T	0.14671	-1.0464	10	0.39692	T	0.17	-0.1411	12.2766	0.54739	0.4771:0.0:0.5229:0.0	.	674;196;673;654	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	674;654;654;673;674	ENSP00000414351:A674T;ENSP00000337792:A654T;ENSP00000405276:A654T;ENSP00000187397:A673T;ENSP00000412326:A674T	ENSP00000187397:A673T	A	+	1	0	ARPP21	35760446	0.135000	0.22499	0.023000	0.16930	0.923000	0.55619	-0.050000	0.11904	-0.457000	0.07033	0.655000	0.94253	GCA	ARPP21	-	NULL		0.498	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35785442	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	0.147	A	A	35785442	G	A	35785442	3	1	101	1	0	0	0	0	1	0	0	0	979	1203	42	4	2092	4	ARPP21	3	35785442	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	8397803	35785442	162236988	72	14703										
TTC21A	199223	genome.wustl.edu	37	chr3	39154048	39154048	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aaggaattcaggacaccaaaGatgtgctggggctgatggga	15	6	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:39154048G>C	ENST00000431162.2	+	5	669	c.535G>C	c.(535-537)Gat>Cat	p.D179H	TTC21A_ENST00000301819.6_Missense_Mutation_p.D179H|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	179										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGACACCAAAGATGTGCTGGG	0.572																																																	0													66	72	70					3																	39154048		1988	4178	6166	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.535G>C	3.37:g.39154048G>C	ENSP00000398211:p.Asp179His		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D179H	ENST00000431162.2	37	c.535	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861272	0.71949	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162	T;T	0.64991	-0.13;-0.13	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.070871	0.53938	D	0.000041	T	0.78786	0.4338	M	0.70787	2.145	0.50171	D	0.999857	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.75659	-0.3241	10	0.34782	T	0.22	-19.5552	18.6994	0.91615	0.0:0.0:1.0:0.0	.	179;179;179	Q8NDW8-7;Q8NDW8;F5H6V8	.;TT21A_HUMAN;.	H	179	ENSP00000301819:D179H;ENSP00000398211:D179H	ENSP00000301819:D179H	D	+	1	0	TTC21A	39129052	1.000000	0.71417	0.945000	0.38365	0.986000	0.74619	4.239000	0.58694	2.715000	0.92844	0.655000	0.94253	GAT	TTC21A	-	NULL		0.572	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755		39154048	1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.988	C	C	39154048	G	C	39154048	3	2	101	1	0	0	0	0	1	0	0	0	16718	942	33	1	553	1	TTC21A	3	39154048	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3368606	39154048	158868382	73	14704										
ZNF620	253639	genome.wustl.edu	37	chr3	40558018	40558018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gagaagctctatgaatgtaaCgaatgttggaaaactttcag	10	5	2	2	rs375417538		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:40558018C>A	ENST00000314529.6	+	5	1082	c.933C>A	c.(931-933)aaC>aaA	p.N311K	ZNF620_ENST00000418905.1_Missense_Mutation_p.N197K	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATGAATGTAACGAATGTTGGA	0.473																																																	0													60	61	60					3																	40558018		2203	4300	6503	SO:0001583	missense	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"Zinc fingers, C2H2-type", "-"	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.933C>A	3.37:g.40558018C>A	ENSP00000322265:p.Asn311Lys		Q8N223	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N311K	ENST00000314529.6	37	c.933	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.917157	0.00003	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.15834	2.39;2.39	2.65	-5.31	0.02730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13575	-1.0504	8	.	.	.	.	1.0489	0.01575	0.2761:0.3223:0.2766:0.125	.	311	Q6ZNG0	ZN620_HUMAN	K	311;197	ENSP00000322265:N311K;ENSP00000391472:N197K	.	N	+	3	2	ZNF620	40533022	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-4.587000	0.00041	-1.564000	0.00881	AAC	ZNF620	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	C	XM_171060		40558018	1	no_errors	ENST00000314529	ensembl	human	known	70_37	missense	SNP	0.000	A	A	40558018	C	A	40558018	3	1	101	1	0	0	0	0	1	0	0	0	18074	535	19	2	947	2	ZNF620	3	40558018	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1403970	40558018	157464412	74	14705										
HHATL	57467	genome.wustl.edu	37	chr3	42735141	42735141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	taggggcccccactctgccaGtttttgcatccagagctcaa	9	14	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:42735141G>A	ENST00000441594.1	-	10	1477	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	HHATL_ENST00000310417.5_Silent_p.L406L	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	406					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CACTCTGCCAGTTTTTGCATC	0.562																																																	0													47	44	45					3																	42735141		2203	4300	6503	SO:0001819	synonymous_variant	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1216C>T	3.37:g.42735141G>A			Q8TBG3|Q9ULP7	Silent	SNP	pfam_MBOAT_fam	p.L406	ENST00000441594.1	37	c.1216	CCDS2704.1	3																																																																																			HHATL	-	pfam_MBOAT_fam		0.562	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HHATL	HGNC	protein_coding	OTTHUMT00000343627.1	G	NM_020707		42735141	-1	no_errors	ENST00000310417	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42735141	G	A	42735141	2	1	101	1	0	0	0	0	0	0	0	1	7110	1020	36	4		4	HHATL	3	42735141	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2177123	42735141	155287289	75	14706										
CCDC13	152206	genome.wustl.edu	37	chr3	42799773	42799773	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcttctgtaaccgtttgtgcTgcatctcctgcattgccttg	9	12	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:42799773T>A	ENST00000310232.6	-	2	148	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	22										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCGTTTGTGCTGCATCTCCTG	0.498																																																	0													193	155	168					3																	42799773		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.65A>T	3.37:g.42799773T>A	ENSP00000309836:p.Gln22Leu			Missense_Mutation	SNP	superfamily_Prefoldin	p.Q22L	ENST00000310232.6	37	c.65	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603317	0.66445	.	.	ENSG00000244607	ENST00000310232	T	0.55234	0.53	4.82	3.66	0.41972	.	0.060528	0.64402	D	0.000002	T	0.48696	0.1514	M	0.76574	2.34	0.80722	D	1	D;P;P	0.54047	0.964;0.904;0.728	P;B;B	0.46076	0.503;0.425;0.286	T	0.58047	-0.7705	10	0.02654	T	1	.	8.4965	0.33132	0.0:0.0927:0.0:0.9073	.	22;22;22	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	L	22	ENSP00000309836:Q22L	ENSP00000309836:Q22L	Q	-	2	0	CCDC13	42774777	1.000000	0.71417	0.974000	0.42286	0.619000	0.37552	5.009000	0.63998	0.859000	0.35456	0.460000	0.39030	CAG	CCDC13	-	NULL		0.498	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	T	NM_144719		42799773	-1	no_errors	ENST00000310232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42799773	T	A	42799773	3	1	101	1	0	0	0	0	1	0	0	0	2770	1580	55	5	2142	5	CCDC13	3	42799773	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	64632	42799773	155222657	76	14707										
ZNF445	353274	genome.wustl.edu	37	chr3	44489008	44489008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aataaaggctgacctataggCaaagtccttcccacaatcgc	7	12	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:44489008C>T	ENST00000396077.2	-	8	2502	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T	ZNF445_ENST00000425708.2_Missense_Mutation_p.A719T	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	719					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GACCTATAGGCAAAGTCCTTC	0.448																																																	0													120	117	118					3																	44489008		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2155G>A	3.37:g.44489008C>T	ENSP00000379387:p.Ala719Thr		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A719T	ENST00000396077.2	37	c.2155	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	c	0.195	-1.049948	0.01981	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.17691	2.26;2.26	3.7	-5.09	0.02920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.745111	0.12010	N	0.507948	T	0.06554	0.0168	N	0.20530	0.585	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.41998	-0.9477	10	0.07482	T	0.82	.	4.9841	0.14182	0.1281:0.5268:0.1399:0.2052	.	707;719	B7ZKX2;P59923	.;ZN445_HUMAN	T	719	ENSP00000413073:A719T;ENSP00000379387:A719T	ENSP00000379387:A719T	A	-	1	0	ZNF445	44464012	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-2.399000	0.01050	-1.079000	0.03113	-0.382000	0.06688	GCC	ZNF445	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	C	NM_181489		44489008	-1	no_errors	ENST00000396077	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44489008	C	T	44489008	3	4	101	1	0	0	0	0	1	0	0	0	17948	710	25	4	944	4	ZNF445	3	44489008	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1689235	44489008	153533422	77	14708										
CLEC3B	7123	genome.wustl.edu	37	chr3	45077228	45077228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcctcaacgacatggcggccGagggcacctgggtggacatg	16	12	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:45077228G>A	ENST00000296130.4	+	3	601	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CLEC3B_ENST00000428034.1_Missense_Mutation_p.E99K|CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	CATGGCGGCCGAGGGCACCTG	0.657																																					GBM(139;1487 3263 30871)												0													35	36	36					3																	45077228		2202	4298	6500	SO:0001583	missense	7123				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	11891	protein-coding gene	gene with protein product		187520	"tetranectin (plasminogen binding protein)"	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.421G>A	3.37:g.45077228G>A	ENSP00000296130:p.Glu141Lys		Q6FGX6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E141K	ENST00000296130.4	37	c.421	CCDS2726.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011932	0.75046	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.19105	2.17;2.17	4.53	4.53	0.55603	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.053749	0.64402	D	0.000001	T	0.54679	0.1873	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67078	-0.5761	10	0.72032	D	0.01	-31.8116	17.6076	0.88042	0.0:0.0:1.0:0.0	.	141	P05452	TETN_HUMAN	K	141;99	ENSP00000296130:E141K;ENSP00000396013:E99K	ENSP00000296130:E141K	E	+	1	0	CLEC3B	45052232	1.000000	0.71417	0.726000	0.30738	0.092000	0.18411	9.360000	0.97119	2.235000	0.73313	0.561000	0.74099	GAG	CLEC3B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.657	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	G	NM_003278		45077228	1	no_errors	ENST00000296130	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45077228	G	A	45077228	3	1	101	1	0	0	0	0	1	0	0	0	3516	1059	37	1	431	1	CLEC3B	3	45077228	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	588220	45077228	152945202	78	14709										
PRSS50	29122	genome.wustl.edu	37	chr3	46759249	46759249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcagcagcagcagggcaccGgcgcgggagggggcagacgt	20	11	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:46759249G>A	ENST00000460241.1	-	6	1736	c.66C>T	c.(64-66)gcC>gcT	p.A22A	PRSS50_ENST00000315170.7_Silent_p.A22A			Q9UI38	TSP50_HUMAN	protease, serine, 50	22					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCAGGGCACCGGCGCGGGAGG	0.721																																					Pancreas(41;915 1239 11561 17469)												0													15	16	16					3																	46759249		2153	4218	6371	SO:0001819	synonymous_variant	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.66C>T	3.37:g.46759249G>A				Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A22	ENST00000460241.1	37	c.66	CCDS2745.1	3																																																																																			PRSS50	-	NULL		0.721	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS50	HGNC	protein_coding	OTTHUMT00000354544.1	G			46759249	-1	no_errors	ENST00000315170	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46759249	G	A	46759249	2	1	101	1	0	0	0	0	0	0	0	1	12658	1103	39	2		2	PRSS50	3	46759249	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1682021	46759249	151263181	79	14710										
COL7A1	1294	genome.wustl.edu	37	chr3	48605318	48605318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acaggctcccttcactccccGttcaccctgagggagaaaag	9	15	2	2	rs376588113		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:48605318G>A	ENST00000328333.8	-	106	7989	c.7882C>T	c.(7882-7884)Cgg>Tgg	p.R2628W	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.R2596W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2628	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACTCCCCGTTCACCCTGA	0.582																																																	0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	76	84	81		7882	3.1	0.3	3		81	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2628/2945	48605318	1,13005	2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7882C>T	3.37:g.48605318G>A	ENSP00000332371:p.Arg2628Trp		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2628W	ENST00000328333.8	37	c.7882	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503591	0.44558	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96334	-3.98;-3.98	4.97	3.12	0.35913	.	0.206679	0.23386	N	0.048751	D	0.94981	0.8376	M	0.87547	2.89	0.25087	N	0.990886	B	0.27951	0.195	B	0.25759	0.063	D	0.90276	0.4311	10	0.62326	D	0.03	.	5.0655	0.14580	0.1617:0.0:0.5387:0.2997	.	2628	Q02388	CO7A1_HUMAN	W	2628;2596	ENSP00000332371:R2628W;ENSP00000412569:R2596W	ENSP00000332371:R2628W	R	-	1	2	COL7A1	48580322	1.000000	0.71417	0.347000	0.25668	0.791000	0.44710	5.393000	0.66279	0.469000	0.27268	-0.251000	0.11542	CGG	COL7A1	-	pfam_Collagen		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48605318	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.982	A	A	48605318	G	A	48605318	3	1	101	1	0	0	0	0	1	0	0	0	3709	1144	40	2	1004	2	COL7A1	3	48605318	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1846069	48605318	149417112	80	14711										
COL7A1	1294	genome.wustl.edu	37	chr3	48612260	48612260	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttgagtccagggggtccctgTtctccagagagtccaggacc	13	12	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:48612260T>A	ENST00000328333.8	-	76	6425	c.6318A>T	c.(6316-6318)gaA>gaT	p.E2106D	COL7A1_ENST00000454817.1_Missense_Mutation_p.E2074D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2106	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGTCCCTGTTCTCCAGAGA	0.567																																																	0													50	48	48					3																	48612260		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6318A>T	3.37:g.48612260T>A	ENSP00000332371:p.Glu2106Asp		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E2106D	ENST00000328333.8	37	c.6318	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300209	0.60195	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94232	-3.38;-3.38	5.1	-10.2	0.00374	.	0.177212	0.25610	N	0.029484	T	0.81786	0.4896	L	0.28458	0.855	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.67665	-0.5612	10	0.13470	T	0.59	.	9.3154	0.37930	0.0909:0.6096:0.0917:0.2077	.	2106	Q02388	CO7A1_HUMAN	D	2106;2074	ENSP00000332371:E2106D;ENSP00000412569:E2074D	ENSP00000332371:E2106D	E	-	3	2	COL7A1	48587264	0.001000	0.12720	0.006000	0.13384	0.839000	0.47603	-1.047000	0.03521	-1.955000	0.01023	0.379000	0.24179	GAA	COL7A1	-	pfam_Collagen		0.567	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	T	NM_000094		48612260	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.001	A	A	48612260	T	A	48612260	3	1	101	1	0	0	0	0	1	0	0	0	3709	1722	60	5	2688	5	COL7A1	3	48612260	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	6942	48612260	149410170	81	14712										
CADPS	8618	genome.wustl.edu	37	chr3	62518688	62518688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cccccggactccatttcgggCgcaatactcgtctagtacaa	8	15	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:62518688C>T	ENST00000383710.4	-	13	2498	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	CADPS_ENST00000283269.9_Missense_Mutation_p.A717T|CADPS_ENST00000357948.3_Missense_Mutation_p.A700T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	717					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCATTTCGGGCGCAATACTCG	0.488																																																	0													87	81	83					3																	62518688		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2149G>A	3.37:g.62518688C>T	ENSP00000373215:p.Ala717Thr		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A717T	ENST00000383710.4	37	c.2149	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.608955|5.608955	0.96637|0.96637	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000491424	T;T;T|.	0.35048|.	1.33;1.33;1.33|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;0.999;1.0;1.0|.	D;D;D;D|.	0.77557|.	0.927;0.988;0.99;0.956|.	T|T	0.73056|0.73056	-0.4103|-0.4103	10|5	0.51188|.	T|.	0.08|.	.|.	19.9894|19.9894	0.97361|0.97361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	700;717;717;717|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	T|H	717;717;700;717|23	ENSP00000373215:A717T;ENSP00000350632:A700T;ENSP00000283269:A717T|.	ENSP00000283269:A717T|.	A|R	-|-	1|2	0|0	CADPS|CADPS	62493728|62493728	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.908000|0.908000	0.53690|0.53690	7.818000|7.818000	0.86416|0.86416	2.728000|2.728000	0.93425|0.93425	0.557000|0.557000	0.71058|0.71058	GCC|CGC	CADPS	-	NULL		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62518688	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62518688	C	T	62518688	3	4	101	1	0	0	0	0	1	0	0	0	2575	768	27	2	2057	2	CADPS	3	62518688	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	13906428	62518688	135503742	82	14713										
CNTN3	5067	genome.wustl.edu	37	chr3	74535632	74535632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aactgaagtttggcttctctGctgacaattgttccaagtga	9	8	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:74535632G>T	ENST00000263665.6	-	3	360	c.333C>A	c.(331-333)agC>agA	p.S111R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	111	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCTTCTCTGCTGACAATTG	0.348																																																	0													132	129	130					3																	74535632		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.333C>A	3.37:g.74535632G>T	ENSP00000263665:p.Ser111Arg		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S111R	ENST00000263665.6	37	c.333	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759419	0.69763	.	.	ENSG00000113805	ENST00000263665	T	0.68331	-0.32	5.83	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047654	0.85682	D	0.000000	T	0.82075	0.4958	M	0.89030	3	0.49582	D	0.999801	D	0.89917	1.0	D	0.91635	0.999	D	0.83916	0.0298	10	0.87932	D	0	.	8.9096	0.35546	0.1716:0.0:0.8284:0.0	.	111	Q9P232	CNTN3_HUMAN	R	111	ENSP00000263665:S111R	ENSP00000263665:S111R	S	-	3	2	CNTN3	74618322	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.665000	0.61547	2.763000	0.94921	0.585000	0.79938	AGC	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.348	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	G	NM_020872		74535632	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74535632	G	T	74535632	3	4	101	1	0	0	0	0	1	0	0	0	3647	1310	46	4	2833	4	CNTN3	3	74535632	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	12016944	74535632	123486798	83	14714										
C3orf26	84319	genome.wustl.edu	37	chr3	99865816	99865816	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttcaaactttatattttctaGaagcatcagatggtgaagga	8	5	3	3	rs36090016		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:99865816G>A	ENST00000421999.2	+	2	210		c.e2-1		CMSS1_ENST00000489081.1_Splice_Site	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										ATATTTTCTAGAAGCATCAGA	0.408																																																	0													64	65	64					3																	99865816		2203	4300	6503	SO:0001630	splice_region_variant	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.65-1G>A	3.37:g.99865816G>A			A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	-	e2-1	ENST00000421999.2	37	c.65-1	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904124	0.17760	.	.	ENSG00000184220	ENST00000421999;ENST00000489081	.	.	.	4.29	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.29319	N	0.867479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4117	0.32646	0.1087:0.0:0.8913:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf26	101348506	0.715000	0.27946	0.053000	0.19242	0.010000	0.07245	2.713000	0.47194	1.147000	0.42369	-0.137000	0.14449	.	CMSS1	-	-		0.408	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359	Intron	99865816	1	no_errors	ENST00000421999	ensembl	human	known	70_37	splice_site	SNP	0.053	A	A	99865816	G	A	99865816	5	1	101	1	0	0	0	0	0	0	1	0	2223	956	33	1	84	1	C3orf26	3	99865816	Splice_Site	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	25330184	99865816	98156614	84	14715										
DTX3L	151636	genome.wustl.edu	37	chr3	122283436	122283436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acgaagccccgggcaccttcCgggtggagttcagtgaaagg	15	11	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:122283436C>T	ENST00000296161.4	+	1	352	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000360356.2_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.R55W|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	55					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGGCACCTTCCGGGTGGAGTT	0.667																																																	0													40	48	45					3																	122283436		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.163C>T	3.37:g.122283436C>T	ENSP00000296161:p.Arg55Trp		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R55W	ENST00000296161.4	37	c.163	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973084	0.53614	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.43688	1.5;0.94	4.59	0.205	0.15204	.	1.885300	0.02649	N	0.106243	T	0.33469	0.0864	L	0.31926	0.97	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.0	T	0.30119	-0.9989	10	0.62326	D	0.03	-8.0301	5.9511	0.19246	0.0:0.4948:0.3085:0.1967	.	55;55	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	W	55	ENSP00000296161:R55W;ENSP00000373157:R55W	ENSP00000296161:R55W	R	+	1	2	DTX3L	123766126	0.000000	0.05858	0.031000	0.17742	0.529000	0.34654	0.219000	0.17641	0.126000	0.18424	0.655000	0.94253	CGG	DTX3L	-	NULL		0.667	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	C	NM_138287		122283436	1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	0.003	T	T	122283436	C	T	122283436	3	4	101	1	0	0	0	0	1	0	0	0	4806	643	23	2	165	2	DTX3L	3	122283436	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	22417620	122283436	75738994	85	14716										
DIRC2	84925	genome.wustl.edu	37	chr3	122545861	122545861	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	catcacctcttcttgctgcaGagagcagcagggcgcatatt	10	12	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:122545861G>C	ENST00000261038.5	+	3	1050	c.652G>C	c.(652-654)Gag>Cag	p.E218Q		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	218					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.E218Q(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TCTTGCTGCAGAGAGCAGCAG	0.408																																																	1	Substitution - Missense(1)	lung(1)											131	118	122					3																	122545861		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.652G>C	3.37:g.122545861G>C	ENSP00000261038:p.Glu218Gln		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.E218Q	ENST00000261038.5	37	c.652	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566492	0.27915	.	.	ENSG00000138463	ENST00000261038	D	0.91295	-2.82	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.384139	0.32055	N	0.006649	T	0.80470	0.4629	N	0.03608	-0.345	0.31833	N	0.624432	B	0.11235	0.004	B	0.09377	0.004	T	0.72221	-0.4356	10	0.19147	T	0.46	.	19.3093	0.94179	0.0:0.0:1.0:0.0	.	218	Q96SL1	DIRC2_HUMAN	Q	218	ENSP00000261038:E218Q	ENSP00000261038:E218Q	E	+	1	0	DIRC2	124028551	0.910000	0.30920	0.995000	0.50966	0.526000	0.34562	2.351000	0.44071	2.810000	0.96702	0.650000	0.86243	GAG	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.408	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	G	NM_032839		122545861	1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	0.840	C	C	122545861	G	C	122545861	3	2	101	1	0	0	0	0	1	0	0	0	4544	943	33	1	662	1	DIRC2	3	122545861	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	262425	122545861	75476569	86	14717										
MBD4	8930	genome.wustl.edu	37	chr3	129151414	129151414	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tttaccaatcccatgaagctCaattggatacttccactgct	5	12	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:129151414C>A	ENST00000249910.1	-	7	1772	c.1597G>T	c.(1597-1599)Gag>Tag	p.E533*	MBD4_ENST00000429544.2_Nonsense_Mutation_p.E527*|MBD4_ENST00000507208.1_Nonsense_Mutation_p.E533*|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Nonsense_Mutation_p.E215*|MBD4_ENST00000503197.1_Nonsense_Mutation_p.E533*	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	533					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CCATGAAGCTCAATTGGATAC	0.428								Base excision repair (BER), DNA glycosylases																																									0													211	196	201					3																	129151414		2203	4300	6503	SO:0001587	stop_gained	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1597G>T	3.37:g.129151414C>A	ENSP00000249910:p.Glu533*		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.E533*	ENST00000249910.1	37	c.1597	CCDS3058.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133492	0.77662	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	.	.	.	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.5329	14.747	0.69496	0.0:0.9297:0.0:0.0703	.	.	.	.	X	527;533;533;215;533	.	ENSP00000249910:E533X	E	-	1	0	MBD4	130634104	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	7.249000	0.78278	1.539000	0.49286	0.650000	0.86243	GAG	MBD4	-	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,pirsf_Me_CpG-bd_MBD4		0.428	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1	C	NM_003925		129151414	-1	no_errors	ENST00000249910	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	129151414	C	A	129151414	4	1	101	1	0	0	0	0	0	1	0	0	9369	835	29	3	153	3	MBD4	3	129151414	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	6605553	129151414	68871016	87	14718										
IL20RB	53833	genome.wustl.edu	37	chr3	136708308	136708308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cttacccgacctgggatggaGatcaccaaagatggcttcca	10	12	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:136708308G>C	ENST00000329582.4	+	4	681	c.432G>C	c.(430-432)gaG>gaC	p.E144D	IL20RB_ENST00000309741.5_Missense_Mutation_p.E97D|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	144	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTGGGATGGAGATCACCAAAG	0.577																																																	0													88	83	85					3																	136708308		2203	4300	6503	SO:0001583	missense	53833			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.432G>C	3.37:g.136708308G>C	ENSP00000328133:p.Glu144Asp		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E144D	ENST00000329582.4	37	c.432	CCDS3093.1	3	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287317	0.23478	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T;T	0.74737	-0.87;-0.87	4.9	-3.4	0.04853	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.928208	0.09144	N	0.842564	T	0.49830	0.1580	L	0.27053	0.805	0.09310	N	1	P	0.35226	0.491	B	0.34536	0.185	T	0.41805	-0.9488	10	0.18276	T	0.48	-2.2032	0.1732	0.00116	0.264:0.263:0.2059:0.2672	.	144	Q6UXL0	I20RB_HUMAN	D	144;97	ENSP00000328133:E144D;ENSP00000311979:E97D	ENSP00000311979:E97D	E	+	3	2	IL20RB	138190998	0.004000	0.15560	0.000000	0.03702	0.688000	0.40055	-0.051000	0.11885	-0.539000	0.06273	-1.045000	0.02358	GAG	IL20RB	-	superfamily_Fibronectin_type3		0.577	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RB	HGNC	protein_coding	OTTHUMT00000357277.2	G	NM_144717		136708308	1	no_errors	ENST00000329582	ensembl	human	known	70_37	missense	SNP	0.000	C	C	136708308	G	C	136708308	3	2	101	1	0	0	0	0	1	0	0	0	7689	933	33	1	446	1	IL20RB	3	136708308	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7556894	136708308	61314122	88	14719										
P2RY13	53829	genome.wustl.edu	37	chr3	151046611	151046611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgtttttgaggtagatgatgAaggtggaggagctggggatg	19	1	0	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:151046611A>C	ENST00000325602.5	-	2	252	c.233T>G	c.(232-234)tTc>tGc	p.F78C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	78					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTAGATGATGAAGGTGGAGGA	0.502																																																	0													107	104	105					3																	151046611		2203	4300	6503	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.233T>G	3.37:g.151046611A>C	ENSP00000320376:p.Phe78Cys		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.F78C	ENST00000325602.5	37	c.233	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258754	0.80246	.	.	ENSG00000181631	ENST00000325602	T	0.29655	1.56	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57545	-0.7793	10	0.66056	D	0.02	-24.679	16.0985	0.81148	1.0:0.0:0.0:0.0	.	78	Q9BPV8	P2Y13_HUMAN	C	78	ENSP00000320376:F78C	ENSP00000320376:F78C	F	-	2	0	P2RY13	152529301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.197000	0.70478	0.455000	0.32223	TTC	P2RY13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_UDPG_rcpt		0.502	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	A	NM_023914		151046611	-1	no_errors	ENST00000325602	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151046611	A	C	151046611	3	2	101	1	0	0	0	0	1	0	0	0	11374	246	9	5	835	5	P2RY13	3	151046611	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	14338303	151046611	46975819	89	14720										
MED12L	116931	genome.wustl.edu	37	chr3	151095907	151095907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggggaagagctggagaaggGacagcacttgggttcttctt	16	6	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:151095907G>A	ENST00000474524.1	+	29	4357	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	MED12L_ENST00000273432.4_Missense_Mutation_p.G1300E|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1440						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGAGAAGGGACAGCACTTG	0.517																																																	0													71	66	68					3																	151095907		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4319G>A	3.37:g.151095907G>A	ENSP00000417235:p.Gly1440Glu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G1440E	ENST00000474524.1	37	c.4319	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.093926	0.94149	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62639	0.21;0.01	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.79446	-0.1800	10	0.87932	D	0	-16.6913	19.5083	0.95130	0.0:0.0:1.0:0.0	.	1300;1439;1440	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	E	1440;1300	ENSP00000417235:G1440E;ENSP00000273432:G1300E	ENSP00000273432:G1300E	G	+	2	0	MED12L	152578597	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.044000	0.93805	2.721000	0.93114	0.655000	0.94253	GGA	MED12L	-	NULL		0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	G	NM_053002		151095907	1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151095907	G	A	151095907	3	1	101	1	0	0	0	0	1	0	0	0	9452	1174	41	1	4433	1	MED12L	3	151095907	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	49296	151095907	46926523	90	14721										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	101	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	27840184	178936091	19086339	91	14722										
B3GNT5	84002	genome.wustl.edu	37	chr3	182988037	182988037	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaaaactggcttgggaagatCaaaggtacaatgatataatt	10	4	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:182988037C>G	ENST00000326505.3	+	2	981	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E	B3GNT5_ENST00000460419.1_Missense_Mutation_p.Q151E|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Q151E|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	151					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGGGAAGATCAAAGGTACAA	0.393																																																	0													56	53	54					3																	182988037		2203	4300	6503	SO:0001583	missense	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.451C>G	3.37:g.182988037C>G	ENSP00000316173:p.Gln151Glu		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.Q151E	ENST00000326505.3	37	c.451	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	C	2.920	-0.223435	0.06061	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.39997	1.05;1.05;1.05	5.91	-0.939	0.10408	.	0.660669	0.15099	N	0.280621	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24368	-1.0162	10	0.17832	T	0.49	.	11.1768	0.48603	0.3743:0.2612:0.3645:0.0	.	151	Q9BYG0	B3GN5_HUMAN	E	151	ENSP00000316173:Q151E;ENSP00000420778:Q151E;ENSP00000417868:Q151E	ENSP00000316173:Q151E	Q	+	1	0	B3GNT5	184470731	0.000000	0.05858	0.025000	0.17156	0.018000	0.09664	-0.824000	0.04438	0.088000	0.17205	0.650000	0.86243	CAA	B3GNT5	-	pfam_Glyco_trans_31		0.393	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	C	NM_032047		182988037	1	no_errors	ENST00000326505	ensembl	human	known	70_37	missense	SNP	0.001	G	G	182988037	C	G	182988037	3	3	101	1	0	0	0	0	1	0	0	0	1261	827	29	1	453	1	B3GNT5	3	182988037	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	4051946	182988037	15034393	92	14723										
EPHB3	2049	genome.wustl.edu	37	chr3	184295445	184295445	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccctctctcctggcattgcaGagcgagggcatcgcctccac	10	17	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:184295445G>C	ENST00000330394.2	+	7	1931		c.e7-1		EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCATTGCAGAGCGAGGGCA	0.662																																																	0													56	61	59					3																	184295445		2203	4300	6503	SO:0001630	splice_region_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1480-1G>C	3.37:g.184295445G>C			Q7Z740	Splice_Site	SNP	-	e7-1	ENST00000330394.2	37	c.1480-1	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334771	0.60853	.	.	ENSG00000182580	ENST00000330394	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2934	0.90137	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB3	185778139	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	4.534000	0.60622	2.561000	0.86390	0.448000	0.29417	.	EPHB3	-	-		0.662	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443	Intron	184295445	1	no_errors	ENST00000330394	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	184295445	G	C	184295445	5	2	101	1	0	0	0	0	0	0	1	0	5188	956	33	1	1505	1	EPHB3	3	184295445	Splice_Site	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1307408	184295445	13726985	93	14724										
JAKMIP1	152789	genome.wustl.edu	37	chr4	6051584	6051584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atctaatttcttcataagttCagaaacattcacatcctgga	4	9	5	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:6051584C>T	ENST00000409021.3	-	15	2373	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E457K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCATAAGTTCAGAAACATTC	0.428																																																	0													101	104	103					4																	6051584		1856	4101	5957	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.1924G>A	4.37:g.6051584C>T	ENSP00000386711:p.Glu642Lys		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.E642K	ENST00000409021.3	37	c.1924	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997617	0.93227	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.39229	1.5;1.09	5.3	5.3	0.74995	.	0.000000	0.52532	U	0.000080	T	0.31104	0.0786	.	.	.	0.80722	D	1	B;B	0.29301	0.241;0.241	B;B	0.29942	0.109;0.109	T	0.07809	-1.0753	9	0.12430	T	0.62	.	18.3002	0.90160	0.0:1.0:0.0:0.0	.	457;642	Q96N16-5;Q96N16-2	.;.	K	642;457	ENSP00000386711:E642K;ENSP00000387042:E457K	ENSP00000386711:E642K	E	-	1	0	JAKMIP1	6102485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.584000	0.74057	2.650000	0.89964	0.655000	0.94253	GAA	JAKMIP1	-	NULL		0.428	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	C	NM_144720		6051584	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6051584	C	T	6051584	3	4	101	1	0	0	0	0	1	0	0	0	7960	835	29	1	599	1	JAKMIP1	4	6051584	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		6051584	185102692	94	14725										
FAT4	79633	genome.wustl.edu	37	chr4	126371575	126371575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttcttcaggaaatgaagaagGcatttttgcaatcaattctt	7	6	4	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:126371575G>T	ENST00000394329.3	+	9	9417	c.9404G>T	c.(9403-9405)gGc>gTc	p.G3135V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1433V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3135	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGAAGAAGGCATTTTTGCA	0.383																																																	0													67	68	67					4																	126371575		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9404G>T	4.37:g.126371575G>T	ENSP00000377862:p.Gly3135Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G3135V	ENST00000394329.3	37	c.9404	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080100	0.55753	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.63744	-0.06;-0.06	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003472	T	0.80889	0.4710	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.939;0.999;1.0	T	0.78750	-0.2082	10	0.34782	T	0.22	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	1433;3135;3135	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3135;1433	ENSP00000377862:G3135V;ENSP00000335169:G1433V	ENSP00000335169:G1433V	G	+	2	0	FAT4	126591025	1.000000	0.71417	0.914000	0.36105	0.634000	0.38068	7.823000	0.86660	2.652000	0.90054	0.655000	0.94253	GGC	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126371575	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126371575	G	T	126371575	3	4	101	1	0	0	0	0	1	0	0	0	5710	1203	42	4	9438	4	FAT4	4	126371575	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	120319991	126371575	64782701	95	14726										
GALNT7	51809	genome.wustl.edu	37	chr4	174223308	174223308	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggtgaaaactttgagatctCatacaaggtaacattttatt	7	5	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:174223308C>T	ENST00000265000.4	+	7	1342	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	420	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTTGAGATCTCATACAAGGTA	0.403																																																	0													172	180	177					4																	174223308		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1259C>T	4.37:g.174223308C>T	ENSP00000265000:p.Ser420Leu		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S420L	ENST00000265000.4	37	c.1259	CCDS3815.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.504379|5.504379	0.96371|0.96371	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000505308;ENST00000458613|ENST00000265000	.|D	.|0.81659	.|-1.52	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93884|0.93884	0.8043|0.8043	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95031|0.95031	0.8169|0.8169	6|10	0.87932|0.87932	D|D	0|0	.|.	20.4239|20.4239	0.99064|0.99064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420	.|Q86SF2	.|GALT7_HUMAN	Y|L	217;197|420	.|ENSP00000265000:S420L	ENSP00000394985:H197Y|ENSP00000265000:S420L	H|S	+|+	1|2	0|0	GALNT7|GALNT7	174459883|174459883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.757000|7.757000	0.85209|0.85209	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	CAT|TCA	GALNT7	-	NULL		0.403	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	C	NM_017423		174223308	1	no_errors	ENST00000265000	ensembl	human	known	70_37	missense	SNP	1.000	T	T	174223308	C	T	174223308	3	4	101	1	0	0	0	0	1	0	0	0	6237	838	29	1	1285	1	GALNT7	4	174223308	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	47851733	174223308	16930968	96	14727										
SLC9A3	6550	genome.wustl.edu	37	chr5	476336	476336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cccgcttctgggcacgctccCgcttgtacagcttggccgcc	11	18	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:476336C>T	ENST00000264938.3	-	13	2057	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.R674Q|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	683					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCACGCTCCCGCTTGTACAG	0.657																																																	0													48	48	48					5																	476336		2203	4300	6503	SO:0001583	missense	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2048G>A	5.37:g.476336C>T	ENSP00000264938:p.Arg683Gln		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R683Q	ENST00000264938.3	37	c.2048	CCDS3855.1	5	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838107	0.50951	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.75704	-0.96;-0.96	4.73	4.73	0.59995	.	0.330346	0.31495	N	0.007556	T	0.67757	0.2927	M	0.62723	1.935	0.29937	N	0.821404	P;P	0.50528	0.936;0.84	B;B	0.33960	0.173;0.129	T	0.74472	-0.3654	10	0.62326	D	0.03	.	15.4679	0.75416	0.0:1.0:0.0:0.0	.	674;683	E9PF67;P48764	.;SL9A3_HUMAN	Q	683;674	ENSP00000264938:R683Q;ENSP00000422983:R674Q	ENSP00000264938:R683Q	R	-	2	0	SLC9A3	529336	0.997000	0.39634	0.962000	0.40283	0.728000	0.41692	3.194000	0.51005	2.169000	0.68431	0.453000	0.30009	CGG	SLC9A3	-	NULL		0.657	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	C	NM_004174		476336	-1	no_errors	ENST00000264938	ensembl	human	known	70_37	missense	SNP	1.000	T	T	476336	C	T	476336	3	4	101	1	0	0	0	0	1	0	0	0	14743	652	23	2	476	2	SLC9A3	5	476336	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		476336	180438924	97	14728										
KIAA0947	23379	genome.wustl.edu	37	chr5	5463891	5463891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acactggccctgcatttcagGaggctccatgtggcaataat	10	11	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:5463891G>A	ENST00000296564.7	+	13	4666	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1482					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCATTTCAGGAGGCTCCATG	0.507																																																	0													76	74	74					5																	5463891		1916	4128	6044	SO:0001583	missense	23379																														ENST00000296564.7:c.4444G>A	5.37:g.5463891G>A	ENSP00000296564:p.Glu1482Lys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1482K	ENST00000296564.7	37	c.4444	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798056	0.70567	.	.	ENSG00000164151	ENST00000296564	T	0.13538	2.58	4.86	4.86	0.63082	.	.	.	.	.	T	0.21550	0.0519	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.62740	0.906	T	0.12319	-1.0552	9	0.27785	T	0.31	-14.2934	13.3468	0.60578	0.0:0.0:1.0:0.0	.	1482	Q9Y2F5	K0947_HUMAN	K	1482	ENSP00000296564:E1482K	ENSP00000296564:E1482K	E	+	1	0	KIAA0947	5516891	0.036000	0.19791	0.027000	0.17364	0.016000	0.09150	0.948000	0.29096	2.524000	0.85096	0.460000	0.39030	GAG	KIAA0947	-	NULL		0.507	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5463891	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.049	A	A	5463891	G	A	5463891	3	1	101	1	0	0	0	0	1	0	0	0	8222	1175	41	1	4494	1	KIAA0947	5	5463891	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4987555	5463891	175451369	98	14729										
ANKH	56172	genome.wustl.edu	37	chr5	14741993	14741993	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttgatgtgggctgccgtgacTgtgttgctcgtgctcaccag	14	10	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:14741993T>G	ENST00000284268.6	-	8	1284	c.954A>C	c.(952-954)acA>acC	p.T318T	ANKH_ENST00000535119.1_Silent_p.T120T|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	318					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGCCGTGACTGTGTTGCTCG	0.537																																																	0													168	128	142					5																	14741993		2203	4300	6503	SO:0001819	synonymous_variant	56172			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.954A>C	5.37:g.14741993T>G			B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	pfam_ANKH	p.T318	ENST00000284268.6	37	c.954	CCDS3885.1	5																																																																																			ANKH	-	pfam_ANKH		0.537	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	T	NM_054027		14741993	-1	no_errors	ENST00000284268	ensembl	human	known	70_37	silent	SNP	0.733	G	G	14741993	T	G	14741993	2	3	101	1	0	0	0	0	0	0	0	1	627	1567	55	5		5	ANKH	5	14741993	Silent	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	9278102	14741993	166173267	99	14730										
PDZD2	23037	genome.wustl.edu	37	chr5	32091009	32091009	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgctccaagctccaggagctGagagccttgagcatgcctga	12	13	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:32091009G>C	ENST00000438447.1	+	20	7843	c.7455G>C	c.(7453-7455)ctG>ctC	p.L2485L	PDZD2_ENST00000282493.3_Silent_p.L2485L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2485					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGCTGAGAGCCTTGA	0.607																																																	0													59	59	59					5																	32091009		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7455G>C	5.37:g.32091009G>C			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L2485	ENST00000438447.1	37	c.7455	CCDS34137.1	5																																																																																			PDZD2	-	NULL		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32091009	1	no_errors	ENST00000282493	ensembl	human	known	70_37	silent	SNP	0.980	C	C	32091009	G	C	32091009	2	2	101	1	0	0	0	0	0	0	0	1	11725	1277	45	1		1	PDZD2	5	32091009	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	17349016	32091009	148824251	100	14731										
NUP155	9631	genome.wustl.edu	37	chr5	37364401	37364401	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggaactcttcggatggaactGatctctggaaggttgggtac	14	7	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:37364401G>C	ENST00000231498.3	-	2	446	c.243C>G	c.(241-243)atC>atG	p.I81M	NUP155_ENST00000381843.2_Missense_Mutation_p.I22M|NUP155_ENST00000513532.1_Missense_Mutation_p.I81M	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	81					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATGGAACTGATCTCTGGAA	0.388																																																	0													81	75	77					5																	37364401		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.243C>G	5.37:g.37364401G>C	ENSP00000231498:p.Ile81Met		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.I81M	ENST00000231498.3	37	c.243	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816336	0.16607	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.47869	0.83;0.83;0.83	5.39	3.62	0.41486	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.099999	0.64402	N	0.000002	T	0.32763	0.0840	N	0.22421	0.69	0.42680	D	0.993546	B;B	0.32968	0.392;0.056	B;B	0.37989	0.262;0.141	T	0.08207	-1.0733	10	0.31617	T	0.26	.	6.7417	0.23439	0.0699:0.1288:0.6675:0.1337	.	81;81	E9PF10;O75694	.;NU155_HUMAN	M	81;22;43;81	ENSP00000231498:I81M;ENSP00000371265:I22M;ENSP00000422019:I81M	ENSP00000231498:I81M	I	-	3	3	NUP155	37400158	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.463000	0.45058	0.669000	0.31146	-0.223000	0.12442	ATC	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N		0.388	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	G	NM_153485, NM_004298		37364401	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37364401	G	C	37364401	3	2	101	1	0	0	0	0	1	0	0	0	10780	1280	45	1	4068	1	NUP155	5	37364401	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5273392	37364401	143550859	101	14732										
GPR98	84059	genome.wustl.edu	37	chr5	90052844	90052844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aggtgcctccacccttgaacGttcttcaagttcctgtagtc	8	13	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:90052844G>A	ENST00000405460.2	+	57	11902	c.11806G>A	c.(11806-11808)Gtt>Att	p.V3936I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3936	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCCTTGAACGTTCTTCAAGT	0.443																																																	0													100	97	98					5																	90052844		1855	4090	5945	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11806G>A	5.37:g.90052844G>A	ENSP00000384582:p.Val3936Ile		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V3936I	ENST00000405460.2	37	c.11806	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	1.852	-0.464821	0.04476	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.32023	1.47	5.3	-8.89	0.00785	Na-Ca exchanger/integrin-beta4 (2);	0.516289	0.22135	N	0.064122	T	0.09686	0.0238	N	0.17312	0.475	0.26684	N	0.971484	B;B	0.17852	0.024;0.009	B;B	0.13407	0.009;0.007	T	0.23976	-1.0173	10	0.12103	T	0.63	.	3.7245	0.08469	0.4066:0.2322:0.2828:0.0784	.	3936;3936	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	3936	ENSP00000384582:V3936I	ENSP00000296619:V3936I	V	+	1	0	GPR98	90088600	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-1.672000	0.01952	-1.794000	0.01256	0.467000	0.42956	GTT	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90052844	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.000	A	A	90052844	G	A	90052844	3	1	101	1	0	0	0	0	1	0	0	0	6741	1145	40	2	12032	2	GPR98	5	90052844	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	52688443	90052844	90862416	102	14733										
SLCO6A1	133482	genome.wustl.edu	37	chr5	101811489	101811489	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tccaatcattgatgtacattCtgcaatacctgtaaaataag	5	8	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:101811489C>G	ENST00000506729.1	-	4	982	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E209Q|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E271Q|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E209Q|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E209Q			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GATGTACATTCTGCAATACCT	0.353																																																	0													106	99	102					5																	101811489		2203	4300	6503	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.811G>C	5.37:g.101811489C>G	ENSP00000421339:p.Glu271Gln		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.E271Q	ENST00000506729.1	37	c.811	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707012	0.30232	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	3.01	3.01	0.34805	Major facilitator superfamily domain, general substrate transporter (1);	0.883336	0.09550	N	0.787089	D	0.85952	0.5817	M	0.63428	1.95	0.09310	N	1	D;P;D	0.76494	0.999;0.911;0.998	D;P;D	0.68765	0.929;0.671;0.96	T	0.73065	-0.4100	10	0.28530	T	0.3	.	9.7381	0.40401	0.0:1.0:0.0:0.0	.	209;209;271	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Q	271;271;209;209;209	ENSP00000421339:E271Q;ENSP00000369135:E271Q;ENSP00000373671:E209Q;ENSP00000421990:E209Q;ENSP00000369138:E209Q	ENSP00000369135:E271Q	E	-	1	0	SLCO6A1	101839388	0.094000	0.21725	0.016000	0.15963	0.033000	0.12548	1.544000	0.36158	1.978000	0.57642	0.655000	0.94253	GAA	SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	C	NM_173488		101811489	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	missense	SNP	0.019	G	G	101811489	C	G	101811489	3	3	101	1	0	0	0	0	1	0	0	0	14762	922	32	1	1388	1	SLCO6A1	5	101811489	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	11758645	101811489	79103771	103	14734										
SNCAIP	9627	genome.wustl.edu	37	chr5	121786382	121786382	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctagacccaaagcaaaagatGaagattctgataaaatctta	6	7	2	5			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:121786382G>T	ENST00000261368.8	+	10	2102	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.E554*|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.E661*|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Nonsense_Mutation_p.E661*|SNCAIP_ENST00000542191.1_Nonsense_Mutation_p.E172*|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.E248*|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Nonsense_Mutation_p.E216*|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	614				E -> G (in Ref. 6; AAH40552). {ECO:0000305}.	cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCAAAAGATGAAGATTCTGA	0.473																																																	0													58	68	65					5																	121786382		2202	4300	6502	SO:0001587	stop_gained	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1840G>T	5.37:g.121786382G>T	ENSP00000261368:p.Glu614*		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E661*	ENST00000261368.8	37	c.1981	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.948942	0.98577	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	.	.	.	6.06	6.06	0.98353	.	0.162693	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-28.5202	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	172;554;614;661;554;248;661;216;254	.	ENSP00000261367:E661X	E	+	1	0	SNCAIP	121814281	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.906000	0.87423	2.882000	0.98803	0.655000	0.94253	GAA	SNCAIP	-	NULL		0.473	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	G			121786382	1	no_errors	ENST00000379533	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	121786382	G	T	121786382	4	4	101	1	0	0	0	0	0	1	0	0	14871	1291	45	3	1874	3	SNCAIP	5	121786382	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	19974893	121786382	59128878	104	14735										
VDAC1	7416	genome.wustl.edu	37	chr5	133326815	133326815	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcccgtcactttggtggtctCagtgttggctgagcctgagc	14	11	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:133326815C>G	ENST00000265333.3	-	4	392	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.E50Q|VDAC1_ENST00000395044.3_Missense_Mutation_p.E50Q	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	50					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TTGGTGGTCTCAGTGTTGGCT	0.488																																					NSCLC(127;1776 1806 35523 41489 48154)												0													104	94	98					5																	133326815		2203	4300	6503	SO:0001583	missense	7416				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.148G>C	5.37:g.133326815C>G	ENSP00000265333:p.Glu50Gln		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.E50Q	ENST00000265333.3	37	c.148	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514260	0.85389	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.80422	2.495	0.80722	D	1	P	0.43578	0.811	P	0.46975	0.533	T	0.62845	-0.6768	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	50	P21796	VDAC1_HUMAN	Q	50	ENSP00000265333:E50Q;ENSP00000378484:E50Q;ENSP00000378487:E50Q;ENSP00000390129:E50Q	ENSP00000265333:E50Q	E	-	1	0	VDAC1	133354714	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.750000	0.85110	2.793000	0.96121	0.655000	0.94253	GAG	VDAC1	-	pfam_Porin_Euk		0.488	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	C			133326815	-1	no_errors	ENST00000265333	ensembl	human	known	70_37	missense	SNP	1.000	G	G	133326815	C	G	133326815	3	3	101	1	0	0	0	0	1	0	0	0	17177	835	29	1	727	1	VDAC1	5	133326815	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	11540433	133326815	47588445	105	14736										
ETF1	2107	genome.wustl.edu	37	chr5	137847214	137847214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgttggagaggacttcagtaGataactcaatagcttggttg	12	6	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:137847214G>C	ENST00000360541.5	-	7	1033	c.812C>G	c.(811-813)tCt>tGt	p.S271C	ETF1_ENST00000499810.2_Missense_Mutation_p.S238C|ETF1_ENST00000503014.1_Missense_Mutation_p.S257C	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	271					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTCAGTAGATAACTCAAT	0.318																																																	0													80	77	78					5																	137847214		2202	4300	6502	SO:0001583	missense	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.812C>G	5.37:g.137847214G>C	ENSP00000353741:p.Ser271Cys		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.S271C	ENST00000360541.5	37	c.812	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705663	0.89018	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	T;T;T	0.45276	0.9;0.9;0.9	5.66	5.66	0.87406	eRF1 domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87758	2.905	0.80722	D	1	D;B;P	0.71674	0.998;0.309;0.478	D;B;B	0.65573	0.936;0.429;0.429	T	0.73509	-0.3960	10	0.56958	D	0.05	-7.7856	19.3346	0.94309	0.0:0.0:1.0:0.0	.	257;238;271	B7Z7P8;Q96CG1;P62495	.;.;ERF1_HUMAN	C	238;271;257	ENSP00000421288:S238C;ENSP00000353741:S271C;ENSP00000422203:S257C	ENSP00000353741:S271C	S	-	2	0	ETF1	137875113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.669000	0.90835	0.655000	0.94253	TCT	ETF1	-	pfam_eRF1_2,tigrfam_Peptide_chain-rel_eRF1/aRF1		0.318	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	G	NM_004730		137847214	-1	no_errors	ENST00000360541	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137847214	G	C	137847214	3	2	101	1	0	0	0	0	1	0	0	0	5280	942	33	1	521	1	ETF1	5	137847214	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4520399	137847214	43068046	106	14737										
PCDHA10	56139	genome.wustl.edu	37	chr5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcacggtgtctgcgtgggacGcggacgcgcaggagaacgcc	17	12	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	481	Cadherin 5. {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.A481S(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)			TGCGTGGGACGCGGACGCGCA	0.662																																																	2	Substitution - Missense(2)	lung(2)											88	87	87					5																	140237074		2196	4273	6469	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1441G>A	5.37:g.140237074G>A	ENSP00000304234:p.Ala481Thr		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A481T	ENST00000307360.5	37	c.1441	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683650	0.47991	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61859	4.64;0.07	3.74	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59335	0.2186	L	0.60957	1.885	0.28134	N	0.930071	P;B;D	0.56521	0.849;0.241;0.976	B;B;P	0.50049	0.414;0.135;0.629	T	0.54728	-0.8250	9	0.66056	D	0.02	.	8.7261	0.34469	0.0:0.241:0.6273:0.1317	.	481;481;481	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	481	ENSP00000421030:A481T;ENSP00000304234:A481T	ENSP00000304234:A481T	A	+	1	0	PCDHA10	140217258	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	-0.444000	0.06854	2.077000	0.62373	0.456000	0.33151	GCG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	G	NM_018901		140237074	1	no_errors	ENST00000307360	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140237074	G	A	140237074	3	1	101	1	0	0	0	0	1	0	0	0	11544	1087	38	2	1443	2	PCDHA10	5	140237074	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2389860	140237074	40678186	107	14738										
PCDHA12	56137	genome.wustl.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	12	14	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)												0													107	108	108					5																	140256419		2203	4300	6503	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A454	ENST00000398631.2	37	c.1362	CCDS47285.1	5																																																																																			PCDHA12	-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	G	NM_018903		140256419	1	no_errors	ENST00000398631	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140256419	G	A	140256419	2	1	101	1	0	0	0	0	0	0	0	1	11546	1132	40	2		2	PCDHA12	5	140256419	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	19345	140256419	40658841	108	14739										
PCDHB8	56128	genome.wustl.edu	37	chr5	140559613	140559613	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacttgctcctggtggacggCttctcccagccctacctgcc	9	18	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140559613C>A	ENST00000239444.2	+	1	2243	c.1998C>A	c.(1996-1998)ggC>ggA	p.G666G	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	666	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.687																																																	0													39	40	40					5																	140559613		2180	4255	6435	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1998C>A	5.37:g.140559613C>A			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G666	ENST00000239444.2	37	c.1998	CCDS4250.1	5																																																																																			PCDHB8	-	smart_Cadherin,pfscan_Cadherin		0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	C	NM_019120		140559613	1	no_errors	ENST00000239444	ensembl	human	known	70_37	silent	SNP	0.998	A	A	140559613	C	A	140559613	2	1	101	1	0	0	0	0	0	0	0	1	11572	784	28	4		4	PCDHB8	5	140559613	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	303194	140559613	40355647	109	14740										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725749	140725749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgctgctggcgctcaggctgCggcgctggcacaagtcacgc	15	14	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140725749C>T	ENST00000253812.6	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGGCTGCGGCGCTGGCA	0.677																																																	0													67	74	72					5																	140725749		2203	4296	6499	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2149C>T	5.37:g.140725749C>T	ENSP00000253812:p.Arg717Trp		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R717W	ENST00000253812.6	37	c.2149	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	10.86	1.470065	0.26423	.	.	ENSG00000254245	ENST00000253812	T	0.17054	2.3	5.16	-5.74	0.02391	.	0.000000	0.30201	U	0.010167	T	0.13543	0.0328	M	0.65320	2	0.09310	N	1	B;B	0.27192	0.171;0.023	B;B	0.26202	0.067;0.066	T	0.11227	-1.0596	10	0.51188	T	0.08	.	8.3148	0.32093	0.6089:0.2131:0.0:0.178	.	717;717	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	W	717	ENSP00000253812:R717W	ENSP00000253812:R717W	R	+	1	2	PCDHGA3	140705933	0.000000	0.05858	0.016000	0.15963	0.367000	0.29736	-0.022000	0.12480	-0.996000	0.03455	-0.244000	0.11960	CGG	PCDHGA3	-	NULL		0.677	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140725749	1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140725749	C	T	140725749	3	4	101	1	0	0	0	0	1	0	0	0	11579	759	27	2	2151	2	PCDHGA3	5	140725749	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	166136	140725749	40189511	110	14741										
ARAP3	64411	genome.wustl.edu	37	chr5	141036112	141036112	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caggcagcggccacgcagcaGaaagaacctctcctggaagc	12	14	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:141036112G>C	ENST00000239440.4	-	27	3813	c.3748C>G	c.(3748-3750)Ctg>Gtg	p.L1250V	ARAP3_ENST00000513878.1_Missense_Mutation_p.L912V|ARAP3_ENST00000508305.1_Missense_Mutation_p.L1081V|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1250	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCACGCAGCAGAAAGAACCTC	0.637																																																	0													22	23	23					5																	141036112		2203	4300	6503	SO:0001583	missense	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3748C>G	5.37:g.141036112G>C	ENSP00000239440:p.Leu1250Val		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1250V	ENST00000239440.4	37	c.3748	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595968	0.13875	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.06068	3.35;3.35;3.35	5.64	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.230789	0.37761	N	0.001953	T	0.01800	0.0057	N	0.00926	-1.1	0.35571	D	0.805495	B;B;B	0.25169	0.005;0.119;0.029	B;B;B	0.20184	0.005;0.028;0.01	T	0.33879	-0.9851	10	0.02654	T	1	.	8.9794	0.35955	0.0826:0.2632:0.6542:0.0	.	912;1081;1250	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	1081;1250;912	ENSP00000421826:L1081V;ENSP00000239440:L1250V;ENSP00000421468:L912V	ENSP00000239440:L1250V	L	-	1	2	ARAP3	141016296	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	2.226000	0.42963	1.385000	0.46445	0.591000	0.81541	CTG	ARAP3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.637	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141036112	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141036112	G	C	141036112	3	2	101	1	0	0	0	0	1	0	0	0	840	933	33	1	914	1	ARAP3	5	141036112	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	310363	141036112	39879148	111	14742										
CAMK2A	815	genome.wustl.edu	37	chr5	149652711	149652711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcacacaccttcgcaccaccGagaaggctcccctaggagga	9	16	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:149652711G>A	ENST00000348628.6	-	2	739	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CAMK2A_ENST00000398376.3_Missense_Mutation_p.S25L	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)	p.S25L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCACCACCGAGAAGGCTCC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											84	89	87					5																	149652711		2203	4300	6503	SO:0001583	missense	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.74C>T	5.37:g.149652711G>A	ENSP00000261793:p.Ser25Leu		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.S25L	ENST00000348628.6	37	c.74	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.609942	0.96637	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000510347	T;T;T	0.26957	1.7;1.7;1.7	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.63486	0.2515	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.71251	-0.4648	10	0.87932	D	0	.	19.1308	0.93406	0.0:0.0:1.0:0.0	.	25;25;25	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	L	25	ENSP00000261793:S25L;ENSP00000381412:S25L;ENSP00000426607:S25L	ENSP00000261793:S25L	S	-	2	0	CAMK2A	149632904	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.370000	0.97159	2.816000	0.96949	0.563000	0.77884	TCG	CAMK2A	-	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		0.567	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	G	NM_015981		149652711	-1	no_errors	ENST00000398376	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149652711	G	A	149652711	3	1	101	1	0	0	0	0	1	0	0	0	2604	1059	37	1	1467	1	CAMK2A	5	149652711	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	8616599	149652711	31262549	112	14743										
ATP10B	23120	genome.wustl.edu	37	chr5	160114820	160114820	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctctacctatgaaattgctCaaagagattccggggcagga	10	9	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:160114820C>G	ENST00000327245.5	-	5	1108	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	88					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAATTGCTCAAAGAGATTC	0.463																																																	0													158	161	160					5																	160114820		1914	4122	6036	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.262G>C	5.37:g.160114820C>G	ENSP00000313600:p.Glu88Gln		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E88Q	ENST00000327245.5	37	c.262	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162524	0.57368	.	.	ENSG00000118322	ENST00000327245	D	0.85955	-2.05	5.37	5.37	0.77165	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.068288	0.64402	D	0.000017	D	0.89125	0.6626	M	0.73753	2.245	0.48452	D	0.999653	P;D;D	0.59767	0.745;0.974;0.986	B;P;P	0.56398	0.42;0.797;0.541	D	0.88950	0.3386	9	.	.	.	.	11.5084	0.50481	0.0:0.9095:0.0:0.0904	.	132;88;88	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Q	88	ENSP00000313600:E88Q	.	E	-	1	0	ATP10B	160047398	0.996000	0.38824	0.992000	0.48379	0.305000	0.27757	1.818000	0.39012	2.519000	0.84933	0.467000	0.42956	GAG	ATP10B	-	tigrfam_ATPase_P-typ_Plipid-transl		0.463	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160114820	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.998	G	G	160114820	C	G	160114820	3	3	101	1	0	0	0	0	1	0	0	0	1118	835	29	1	4211	1	ATP10B	5	160114820	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	10462109	160114820	20800440	113	14744										
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171766545	171766545	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggattctttccgcggagggaGgctgggcttctcctccatgt	14	11	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:171766545G>C	ENST00000311601.5	-	13	1734	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	522					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCGGAGGGAGGCTGGGCTTC	0.627																																																	0													71	68	69					5																	171766545		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1564C>G	5.37:g.171766545G>C	ENSP00000309714:p.Leu522Val		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.L522V	ENST00000311601.5	37	c.1564	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407598	0.42715	.	.	ENSG00000174705	ENST00000311601	T	0.67345	-0.26	5.71	4.84	0.62591	.	0.076291	0.53938	D	0.000049	T	0.66197	0.2765	L	0.59436	1.845	0.53688	D	0.999978	D	0.56521	0.976	P	0.46659	0.523	T	0.67015	-0.5777	9	.	.	.	-29.5218	12.599	0.56487	0.0805:0.0:0.9195:0.0	.	522	A1X283	SPD2B_HUMAN	V	522	ENSP00000309714:L522V	.	L	-	1	0	SH3PXD2B	171699150	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.261000	0.51530	1.422000	0.47177	0.561000	0.74099	CTC	SH3PXD2B	-	NULL		0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	G	NM_017963		171766545	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	missense	SNP	1.000	C	C	171766545	G	C	171766545	3	2	101	1	0	0	0	0	1	0	0	0	14287	1000	35	4	1175	4	SH3PXD2B	5	171766545	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	11651725	171766545	9148715	114	14745										
RREB1	6239	genome.wustl.edu	37	chr6	7182252	7182252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtcacagagaatggcgggagCccccaggggatcaagtcccc	14	13	2	1	rs74933950		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:7182252C>A	ENST00000349384.6	+	4	422	c.108C>A	c.(106-108)agC>agA	p.S36R	RP11-405O10.2_ENST00000451355.2_RNA|RREB1_ENST00000379938.2_Missense_Mutation_p.S36R|RREB1_ENST00000334984.6_Missense_Mutation_p.S36R|RREB1_ENST00000379933.3_Missense_Mutation_p.S36R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	36					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGGCGGGAGCCCCCAGGGGA	0.562																																																	0													71	74	73					6																	7182252		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.108C>A	6.37:g.7182252C>A	ENSP00000305560:p.Ser36Arg		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S36R	ENST00000349384.6	37	c.108	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800375	0.50315	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.11385	2.93;3.19;2.9;3.05;2.93;2.78;2.9	6.03	5.16	0.70880	.	0.350617	0.26546	N	0.023773	T	0.04998	0.0134	N	0.19112	0.55	0.42892	D	0.994205	P;D;P	0.53462	0.935;0.96;0.834	P;P;B	0.49853	0.613;0.624;0.316	T	0.37478	-0.9704	10	0.46703	T	0.11	-36.5231	8.7793	0.34781	0.1245:0.7433:0.0:0.1322	.	36;36;36	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	36	ENSP00000369265:S36R;ENSP00000420519:S36R;ENSP00000369270:S36R;ENSP00000420299:S36R;ENSP00000305560:S36R;ENSP00000335574:S36R;ENSP00000419511:S36R	ENSP00000335574:S36R	S	+	3	2	RREB1	7127251	0.995000	0.38212	1.000000	0.80357	0.629000	0.37895	1.501000	0.35693	1.563000	0.49615	-0.140000	0.14226	AGC	RREB1	-	NULL		0.562	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	C			7182252	1	no_errors	ENST00000379938	ensembl	human	known	70_37	missense	SNP	0.997	A	A	7182252	C	A	7182252	3	1	101	1	0	0	0	0	1	0	0	0	13709	738	26	4	110	4	RREB1	6	7182252	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		7182252	163932815	115	14746										
TFAP2A	7020	genome.wustl.edu	37	chr6	10402730	10402730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agtggattcgcttaccctctActagtgatgtgagcagggta	12	8	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:10402730A>C	ENST00000482890.1	-	6	1230	c.878T>G	c.(877-879)gTa>gGa	p.V293G	TFAP2A_ENST00000379608.3_Missense_Mutation_p.V287G|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.V289G|TFAP2A_ENST00000379604.2_Missense_Mutation_p.V293G|TFAP2A_ENST00000379613.3_Missense_Mutation_p.V295G			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	293	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTTACCCTCTACTAGTGATGT	0.408																																																	0													160	137	145					6																	10402730		2203	4300	6503	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.878T>G	6.37:g.10402730A>C	ENSP00000418541:p.Val293Gly		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.V293G	ENST00000482890.1	37	c.878	CCDS4510.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	22.9|22.9|22.9	4.347538|4.347538|4.347538	0.82022|0.82022|0.82022	.|.|.	.|.|.	ENSG00000137203|ENSG00000137203|ENSG00000137203	ENST00000461628|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000475264	.|D;D;D;D;D;D|.	.|0.98192|.	.|-4.78;-4.78;-4.78;-4.78;-4.78;-4.78|.	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|Transcription factor AP-2, C-terminal (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.84129|0.84129|.	0.5404|0.5404|.	M|M|M	0.93462|0.93462|0.93462	3.42|3.42|3.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D|.	.|0.89917|.	.|0.994;0.993;0.994;1.0;1.0|.	.|D;D;D;D;D|.	.|0.97110|.	.|0.991;0.996;0.991;0.998;1.0|.	D|D|.	0.88540|0.88540|.	0.3109|0.3109|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	-7.4962|-7.4962|-7.4962	16.3483|16.3483|16.3483	0.83171|0.83171|0.83171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|293;295;289;293;287|.	.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.|.;.;.;AP2A_HUMAN;.|.	R|G|E	67|295;293;289;287;293;293|198	.|ENSP00000368933:V295G;ENSP00000368924:V293G;ENSP00000316516:V289G;ENSP00000368928:V287G;ENSP00000418541:V293G;ENSP00000417495:V293G|.	.|ENSP00000316516:V289G|.	S|V|X	-|-|-	3|2|1	2|0|0	TFAP2A|TFAP2A|TFAP2A	10510716|10510716|10510716	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.254000|2.254000|2.254000	0.74563|0.74563|0.74563	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTA|TAG	TFAP2A	-	pfam_TF_AP2_C,prints_TF_AP2_C		0.408	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	A	NM_003220		10402730	-1	no_errors	ENST00000379604	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10402730	A	C	10402730	3	2	101	1	0	0	0	0	1	0	0	0	15817	391	14	5	447	5	TFAP2A	6	10402730	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	3220478	10402730	160712337	116	14747										
HDGFL1	154150	genome.wustl.edu	37	chr6	22570207	22570207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aattggggaagccggacgacGacaagcccactgaggaggag	16	9	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:22570207G>T	ENST00000230012.3	+	1	530	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	HDGFL1_ENST00000510882.2_Missense_Mutation_p.D135Y	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	135										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCGGACGACGACAAGCCCAC	0.721																																																	0													7	6	7					6																	22570207		1984	3994	5978	SO:0001583	missense	154150			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.403G>T	6.37:g.22570207G>T	ENSP00000230012:p.Asp135Tyr		Q96MJ6	Missense_Mutation	SNP	pfam_PWWP,smart_PWWP,pfscan_PWWP	p.D135Y	ENST00000230012.3	37	c.403	CCDS34347.1	6	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460675	0.26248	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.38887	1.11;1.11	2.51	0.0488	0.14286	.	0.125568	0.51477	D	0.000084	T	0.21347	0.0514	L	0.38175	1.15	0.09310	N	1	D	0.67145	0.996	P	0.55345	0.774	T	0.10200	-1.0640	10	0.87932	D	0	-46.0706	2.5692	0.04790	0.2683:0.2951:0.4366:0.0	.	135	Q5TGJ6	HDGL1_HUMAN	Y	135	ENSP00000230012:D135Y;ENSP00000442129:D135Y	ENSP00000230012:D135Y	D	+	1	0	HDGFL1	22678186	0.005000	0.15991	0.000000	0.03702	0.006000	0.05464	0.699000	0.25586	-0.012000	0.14223	0.491000	0.48974	GAC	HDGFL1	-	NULL		0.721	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	HGNC	protein_coding	OTTHUMT00000043500.1	G	NM_138574		22570207	1	no_errors	ENST00000230012	ensembl	human	known	70_37	missense	SNP	0.000	T	T	22570207	G	T	22570207	3	4	101	1	0	0	0	0	1	0	0	0	7039	1058	37	3	405	3	HDGFL1	6	22570207	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	12167477	22570207	148544860	117	14748										
HIST1H3A	8350	genome.wustl.edu	37	chr6	26020749	26020749	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	taagcaaactgctcggaagtCtactggtggcaaggcgccac	12	11	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:26020749C>G	ENST00000357647.3	+	1	32	c.32C>G	c.(31-33)tCt>tGt	p.S11C	HIST1H4A_ENST00000359907.3_5'Flank|HIST1H1A_ENST00000244573.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	11					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCTCGGAAGTCTACTGGTGGC	0.587																																																	0													63	60	61					6																	26020749		2203	4299	6502	SO:0001583	missense	8350			Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"Histones / Replication-dependent"	4766	protein-coding gene	gene with protein product		602810	"H3 histone family, member A", "histone 1, H3a"	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.32C>G	6.37:g.26020749C>G	ENSP00000350275:p.Ser11Cys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.S11C	ENST00000357647.3	37	c.32	CCDS4570.1	6	.	.	.	.	.	.	.	.	.	.	c	11.39	1.625666	0.28889	.	.	ENSG00000198366	ENST00000357647	T	0.48201	0.82	3.79	3.79	0.43588	Histone-fold (2);	.	.	.	.	T	0.51244	0.1663	H	0.94264	3.515	0.48236	D	0.999619	P	0.49696	0.927	B	0.39840	0.311	T	0.72337	-0.4324	9	0.87932	D	0	.	15.9278	0.79632	0.0:1.0:0.0:0.0	.	11	P68431	H31_HUMAN	C	11	ENSP00000350275:S11C	ENSP00000350275:S11C	S	+	2	0	HIST1H3A	26128728	1.000000	0.71417	0.384000	0.26145	0.344000	0.29017	7.487000	0.81328	2.405000	0.81733	0.650000	0.86243	TCT	HIST1H3A	-	superfamily_Histone-fold,prints_Histone_H3		0.587	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3A	HGNC	protein_coding	OTTHUMT00000040080.1	C	NM_003529		26020749	1	no_errors	ENST00000357647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26020749	C	G	26020749	3	3	101	1	0	0	0	0	1	0	0	0	7175	913	32	1	34	1	HIST1H3A	6	26020749	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3450542	26020749	145094318	118	14749										
HIST1H2BG	8339	genome.wustl.edu	37	chr6	26216532	26216532	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggtgacagccttggtaccttCggacactgcgtgcttggcca	13	12	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:26216532C>G	ENST00000244601.3	-	1	340	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTACCTTCGGACACTGCG	0.532																																																	0													97	97	97					6																	26216532		2203	4300	6503	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.340G>C	6.37:g.26216532C>G	ENSP00000244601:p.Glu114Gln		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114Q	ENST00000244601.3	37	c.340	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	13.36	2.215310	0.39102	.	.	ENSG00000187990	ENST00000244601	T	0.48836	0.8	3.89	3.89	0.44902	.	0.000000	0.33457	U	0.004887	T	0.54581	0.1867	.	.	.	0.37512	D	0.91718	.	.	.	.	.	.	T	0.62695	-0.6800	7	0.72032	D	0.01	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	Q	114	ENSP00000244601:E114Q	ENSP00000244601:E114Q	E	-	1	0	HIST1H2BG	26324511	1.000000	0.71417	0.999000	0.59377	0.102000	0.19082	7.499000	0.81566	2.172000	0.68678	0.561000	0.74099	GAA	HIST1H2BG	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.532	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	C	NM_003518		26216532	-1	no_errors	ENST00000244601	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26216532	C	G	26216532	3	3	101	1	0	0	0	0	1	0	0	0	7166	893	31	1	44	1	HIST1H2BG	6	26216532	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	195783	26216532	144898535	119	14750										
ZNF165	7718	genome.wustl.edu	37	chr6	28053437	28053437	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcagttctgctaccaggattCtcctggacctcgcgaggcac	11	14	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:28053437C>G	ENST00000377325.1	+	2	735	c.179C>G	c.(178-180)tCt>tGt	p.S60C		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	60					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACCAGGATTCTCCTGGACCT	0.537																																																	0													89	98	95					6																	28053437		2203	4300	6503	SO:0001583	missense	7718			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.179C>G	6.37:g.28053437C>G	ENSP00000366542:p.Ser60Cys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S60C	ENST00000377325.1	37	c.179	CCDS4643.1	6	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082268	0.36758	.	.	ENSG00000197279	ENST00000377325	T	0.04603	3.59	3.72	2.79	0.32731	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10294	0.0252	M	0.87180	2.865	0.09310	N	1	D	0.67145	0.996	P	0.59825	0.864	T	0.04664	-1.0935	9	0.87932	D	0	.	10.5647	0.45165	0.0:0.8017:0.1983:0.0	.	60	P49910	ZN165_HUMAN	C	60	ENSP00000366542:S60C	ENSP00000366542:S60C	S	+	2	0	ZNF165	28161416	0.000000	0.05858	0.042000	0.18584	0.555000	0.35460	0.297000	0.19101	0.792000	0.33850	0.655000	0.94253	TCT	ZNF165	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.537	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	HGNC	protein_coding	OTTHUMT00000040173.1	C	NM_003447		28053437	1	no_errors	ENST00000377325	ensembl	human	known	70_37	missense	SNP	0.064	G	G	28053437	C	G	28053437	3	3	101	1	0	0	0	0	1	0	0	0	17770	913	32	1	181	1	ZNF165	6	28053437	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1836905	28053437	143061630	120	14751										
DPCR1	135656	genome.wustl.edu	37	chr6	30917602	30917602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gacagccaatgagaacaccaCaccatccccagcagggccta	8	16	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:30917602C>T	ENST00000462446.1	+	2	1389	c.1361C>T	c.(1360-1362)aCa>aTa	p.T454I	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	346						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAGAACACCACACCATCCCCA	0.507																																																	0													222	283	264					6																	30917602		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1361C>T	6.37:g.30917602C>T	ENSP00000417182:p.Thr454Ile		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.T454I	ENST00000462446.1	37	c.1361	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	1.814	-0.473844	0.04414	.	.	ENSG00000168631	ENST00000462446	T	0.45668	0.89	1.19	0.258	0.15578	.	.	.	.	.	T	0.15478	0.0373	M	0.74258	2.255	0.09310	N	0.999997	P	0.44659	0.84	B	0.32762	0.152	T	0.10636	-1.0621	9	0.41790	T	0.15	.	3.927	0.09269	0.0:0.5586:0.0:0.4414	.	454	E9PEI6	.	I	454	ENSP00000417182:T454I	ENSP00000417182:T454I	T	+	2	0	DPCR1	31025581	0.000000	0.05858	0.004000	0.12327	0.088000	0.18126	0.382000	0.20635	0.116000	0.18110	0.423000	0.28283	ACA	DPCR1	-	NULL		0.507	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917602	1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.002	T	T	30917602	C	T	30917602	3	4	101	1	0	0	0	0	1	0	0	0	4722	478	17	4	1367	4	DPCR1	6	30917602	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2864165	30917602	140197465	121	14752										
EGFL8	80864	genome.wustl.edu	37	chr6	32134314	32134314	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cagacactggtggtcccgctCcactacaacgagtcctacag	9	15	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:32134314C>G	ENST00000395512.1	+	3	246	c.141C>G	c.(139-141)ctC>ctG	p.L47L	EGFL8_ENST00000333845.6_Silent_p.L47L|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	47	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TGGTCCCGCTCCACTACAACG	0.602																																																	0													112	97	102					6																	32134314		1511	2709	4220	SO:0001819	synonymous_variant	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.141C>G	6.37:g.32134314C>G			B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain	p.L47	ENST00000395512.1	37	c.141	CCDS4743.1	6																																																																																			EGFL8	-	pfam_EMI_domain,pfscan_EMI_domain		0.602	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	HGNC	protein_coding	OTTHUMT00000076463.3	C	NM_030652		32134314	1	no_errors	ENST00000333845	ensembl	human	known	70_37	silent	SNP	0.997	G	G	32134314	C	G	32134314	2	3	101	1	0	0	0	0	0	0	0	1	4975	842	30	1		1	EGFL8	6	32134314	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1216712	32134314	138980753	122	14753										
RXRB	6257	genome.wustl.edu	37	chr6	33168158	33168158	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgccgccgccaccgggacgcGaccccacaatgcatttcttt	9	18	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:33168158G>A	ENST00000374680.3	-	1	307	c.96C>T	c.(94-96)gtC>gtT	p.V32V	RXRB_ENST00000374685.4_Silent_p.V32V|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Intron|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.S19L|RNY4P10_ENST00000365571.1_RNA	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	32	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACCGGGACGCGACCCCACAAT	0.726																																																	0													10	8	8					6																	33168158		1431	2549	3980	SO:0001819	synonymous_variant	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.96C>T	6.37:g.33168158G>A			P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S19L	ENST00000374680.3	37	c.56	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658149	0.67586	.	.	ENSG00000204231	ENST00000413614	D	0.93604	-3.25	4.72	4.72	0.59763	.	.	.	.	.	D	0.84160	0.5411	.	.	.	0.26933	N	0.966423	P	0.47545	0.897	B	0.35278	0.199	T	0.80812	-0.1215	8	0.87932	D	0	.	13.0281	0.58827	0.0:0.0:1.0:0.0	.	19	B7Z3E4	.	L	19	ENSP00000415561:S19L	ENSP00000415561:S19L	S	-	2	0	RXRB	33276136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.753000	0.55180	2.437000	0.82529	0.549000	0.68633	TCG	RXRB	-	NULL		0.726	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	G	NM_021976		33168158	-1	no_errors	ENST00000413614	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33168158	G	A	33168158	2	1	101	1	0	0	0	0	0	0	0	1	13794	1045	37	1		1	RXRB	6	33168158	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1033844	33168158	137946909	123	14754										
DNAH8	1769	genome.wustl.edu	37	chr6	38790763	38790763	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atgaggccctgcaggactttCagaagtacaagactctctgg	11	10	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:38790763C>T	ENST00000359357.3	+	25	3276	c.3022C>T	c.(3022-3024)Cag>Tag	p.Q1008*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q1008*|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q1225*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1008					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGGACTTTCAGAAGTACAA	0.463																																																	0													101	104	103					6																	38790763		2203	4300	6503	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3022C>T	6.37:g.38790763C>T	ENSP00000352312:p.Gln1008*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q1008*	ENST00000359357.3	37	c.3022		6	.	.	.	.	.	.	.	.	.	.	C	42	9.741782	0.99252	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.53	3.74	0.42951	.	0.856027	0.10536	N	0.663276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.511	0.75782	0.0:0.6085:0.3915:0.0	.	.	.	.	X	1213;1213;1008;1008	.	ENSP00000333363:Q1213X	Q	+	1	0	DNAH8	38898741	0.999000	0.42202	0.955000	0.39395	0.785000	0.44390	1.704000	0.37857	0.683000	0.31428	0.467000	0.42956	CAG	DNAH8	-	NULL		0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38790763	1	no_errors	ENST00000359357	ensembl	human	known	70_37	nonsense	SNP	0.972	T	T	38790763	C	T	38790763	4	4	101	1	0	0	0	0	0	1	0	0	4617	827	29	1	3112	1	DNAH8	6	38790763	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	5622605	38790763	132324304	124	14755										
LRRC1	55227	genome.wustl.edu	37	chr6	53761333	53761333	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cactggaactgagagagaatCttcttacatatcttcctgag	8	9	3	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:53761333C>T	ENST00000370888.1	+	5	761	c.484C>T	c.(484-486)Ctt>Ttt	p.L162F		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	162						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGAGAGAATCTTCTTACATA	0.353																																																	0													155	164	161					6																	53761333		2202	4300	6502	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.484C>T	6.37:g.53761333C>T	ENSP00000359925:p.Leu162Phe		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L162F	ENST00000370888.1	37	c.484	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080201	0.36662	.	.	ENSG00000137269	ENST00000370888	T	0.09817	2.94	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.08447	0.0210	L	0.45228	1.405	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.23154	-1.0196	10	0.10111	T	0.7	.	8.1338	0.31043	0.0:0.8295:0.0:0.1705	.	162	Q9BTT6	LRRC1_HUMAN	F	162	ENSP00000359925:L162F	ENSP00000359925:L162F	L	+	1	0	LRRC1	53869292	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.159000	0.31749	2.618000	0.88619	0.655000	0.94253	CTT	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp		0.353	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	C	NM_025168		53761333	1	no_errors	ENST00000370888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53761333	C	T	53761333	3	4	101	1	0	0	0	0	1	0	0	0	8989	913	32	1	502	1	LRRC1	6	53761333	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	14970570	53761333	117353734	125	14756										
SYNCRIP	10492	genome.wustl.edu	37	chr6	86324748	86324748	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctctcgcacctcgaacgcctCttgctgatccaggacctcct	7	18	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:86324748C>G	ENST00000369622.3	-	11	2098	c.1598G>C	c.(1597-1599)aGa>aCa	p.R533T	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R533T|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E69Q	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	533	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R533K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCGAACGCCTCTTGCTGATCC	0.627																																																	1	Substitution - Missense(1)	skin(1)											125	134	131					6																	86324748		2203	4300	6503	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1598G>C	6.37:g.86324748C>G	ENSP00000358635:p.Arg533Thr		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R533T	ENST00000369622.3	37	c.1598	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412190	0.25465	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.30714	1.59;1.52	5.39	4.5	0.54988	.	0.109437	0.64402	D	0.000003	T	0.20455	0.0492	M	0.61703	1.905	0.58432	D	0.999994	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.08146	-1.0736	10	0.66056	D	0.02	.	15.8829	0.79216	0.0:0.8641:0.1359:0.0	.	533;498;435;381;498;533;533	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	T	533	ENSP00000347380:R533T;ENSP00000358635:R533T	ENSP00000347380:R533T	R	-	2	0	SYNCRIP	86381467	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.486000	0.81215	1.226000	0.43582	0.563000	0.77884	AGA	SYNCRIP	-	tigrfam_HnRNP_R/Q_splicing_fac		0.627	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	C	NM_006372		86324748	-1	no_errors	ENST00000369622	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86324748	C	G	86324748	3	3	101	1	0	0	0	0	1	0	0	0	15474	913	32	1	323	1	SYNCRIP	6	86324748	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	32563415	86324748	84790319	126	14757										
ZNF292	23036	genome.wustl.edu	37	chr6	87925755	87925755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaatgtgaaaatgtagccttGgttctggaacgcttggcatt	12	6	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:87925755G>T	ENST00000369577.3	+	2	346	c.303G>T	c.(301-303)ttG>ttT	p.L101F	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Missense_Mutation_p.L101F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	101						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGTAGCCTTGGTTCTGGAAC	0.388																																																	0													150	136	140					6																	87925755		1897	4121	6018	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.303G>T	6.37:g.87925755G>T	ENSP00000358590:p.Leu101Phe		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L101F	ENST00000369577.3	37	c.303	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160032	0.38119	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08546	3.08;3.09	5.12	5.12	0.69794	.	.	.	.	.	T	0.03871	0.0109	L	0.38175	1.15	0.37682	D	0.923531	B;B	0.23540	0.074;0.087	B;B	0.25759	0.03;0.063	T	0.28744	-1.0034	9	0.41790	T	0.15	.	13.4494	0.61161	0.0:0.0:0.8029:0.1971	.	101;101	O60281;Q6ZW83	ZN292_HUMAN;.	F	101	ENSP00000358590:L101F;ENSP00000342847:L101F	ENSP00000342847:L101F	L	+	3	2	ZNF292	87982474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	2.390000	0.81377	0.563000	0.77884	TTG	ZNF292	-	NULL		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87925755	1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87925755	G	T	87925755	3	4	101	1	0	0	0	0	1	0	0	0	17856	1339	47	4	309	4	ZNF292	6	87925755	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1601007	87925755	83189312	127	14758										
FUT9	10690	genome.wustl.edu	37	chr6	96651604	96651604	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aaagagaaattggtgtgctgGgttgtgagtaactggaaccc	14	5	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:96651604G>C	ENST00000302103.5	+	3	899	c.573G>C	c.(571-573)tgG>tgC	p.W191C		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	191					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGTGTGCTGGGTTGTGAGTA	0.453																																					Melanoma(98;1369 1476 6592 22940 26587)												0													70	65	66					6																	96651604		2203	4300	6503	SO:0001583	missense	10690			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.573G>C	6.37:g.96651604G>C	ENSP00000302599:p.Trp191Cys		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.W191C	ENST00000302103.5	37	c.573	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354625	0.61293	.	.	ENSG00000172461	ENST00000302103	T	0.35236	1.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80160	-0.1498	10	0.87932	D	0	-5.6969	18.602	0.91250	0.0:0.0:1.0:0.0	.	191	Q9Y231	FUT9_HUMAN	C	191	ENSP00000302599:W191C	ENSP00000302599:W191C	W	+	3	0	FUT9	96758325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.643000	0.89663	0.655000	0.94253	TGG	FUT9	-	pfam_Glyco_trans_10		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	G	NM_006581		96651604	1	no_errors	ENST00000302103	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96651604	G	C	96651604	3	2	101	1	0	0	0	0	1	0	0	0	6129	1241	43	4	575	4	FUT9	6	96651604	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	8725849	96651604	74463463	128	14759										
LIN28B	389421	genome.wustl.edu	37	chr6	105474188	105474188	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tacagagcaaactattcatgGaaggatttagaagcctaaaa	8	6	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:105474188G>C	ENST00000345080.4	+	3	417	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	72	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACTATTCATGGAAGGATTTAG	0.358																																																	0													77	88	84					6																	105474188		2201	4299	6500	SO:0001583	missense	389421			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.214G>C	6.37:g.105474188G>C	ENSP00000344401:p.Glu72Gln		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.E72Q	ENST00000345080.4	37	c.214	CCDS34504.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629386	0.87660	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.92	0.95590	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.098083	0.64402	D	0.000001	T	0.53850	0.1822	L	0.42632	1.34	0.80722	D	1	P;D	0.53885	0.846;0.963	B;P	0.50082	0.35;0.63	T	0.51787	-0.8661	9	0.45353	T	0.12	-20.5209	20.3116	0.98642	0.0:0.0:1.0:0.0	.	49;72	A7E2T3;Q6ZN17	.;LN28B_HUMAN	Q	72	.	ENSP00000344401:E72Q	E	+	1	0	LIN28B	105580881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.793000	0.96121	0.650000	0.86243	GAA	LIN28B	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot		0.358	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28B	HGNC	protein_coding	OTTHUMT00000041646.2	G	NM_001004317		105474188	1	no_errors	ENST00000345080	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105474188	G	C	105474188	3	2	101	1	0	0	0	0	1	0	0	0	8827	1175	41	1	224	1	LIN28B	6	105474188	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	8822584	105474188	65640879	129	14760										
UTRN	7402	genome.wustl.edu	37	chr6	145093095	145093095	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctaaaatgaccgaactctttCaatcccttggtaagtgttat	6	9	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:145093095C>T	ENST00000367545.3	+	58	8548	c.8548C>T	c.(8548-8550)Caa>Taa	p.Q2850*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.Q405*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	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)			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)		CGAACTCTTTCAATCCCTTGG	0.269																																																	0													64	70	68					6																	145093095		2203	4300	6503	SO:0001587	stop_gained	7402			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.8548C>T	6.37:g.145093095C>T	ENSP00000356515:p.Gln2850*		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.Q2850*	ENST00000367545.3	37	c.8548	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.591796	0.98877	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	.	.	.	5.78	5.78	0.91487	.	0.000000	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	.	.	.	X	2850;405	.	ENSP00000356496:Q405X	Q	+	1	0	UTRN	145134788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.242000	0.78210	2.737000	0.93849	0.563000	0.77884	CAA	UTRN	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin		0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145093095	1	no_errors	ENST00000367545	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	145093095	C	T	145093095	4	4	101	1	0	0	0	0	0	1	0	0	17134	827	29	1	8778	1	UTRN	6	145093095	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	39618907	145093095	26021972	130	14761										
SASH1	23328	genome.wustl.edu	37	chr6	148846469	148846469	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttgacttgacgaatcgctctCtgcacgttggcagtaataat	9	9	1	2	rs370605056		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:148846469C>T	ENST00000367467.3	+	11	1727	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	AL033378.1_ENST00000411390.2_RNA	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	418					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAATCGCTCTCTGCACGTTGG	0.448																																																	0								C		0,4406		0,0,2203	205	189	194		1252	5.6	1	6		194	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SASH1	NM_015278.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		418/1248	148846469	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1252C>T	6.37:g.148846469C>T			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.L418	ENST00000367467.3	37	c.1252	CCDS5212.1	6																																																																																			SASH1	-	pfam_rSAM/SH3_domain-containing		0.448	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	C	NM_015278		148846469	1	no_errors	ENST00000367467	ensembl	human	known	70_37	silent	SNP	1.000	T	T	148846469	C	T	148846469	2	4	101	1	0	0	0	0	0	0	0	1	13878	912	32	1		1	SASH1	6	148846469	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3753374	148846469	22268598	131	14762										
GPR146	115330	genome.wustl.edu	37	chr7	1097783	1097783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctacgcgctggtgctactctCccgcgtccgcagggaggaca	13	15	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:1097783C>T	ENST00000397095.1	+	2	855	c.632C>T	c.(631-633)tCc>tTc	p.S211F	C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397098.3_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.S211F|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTGCTACTCTCCCGCGTCCGC	0.687																																																	0													27	21	23					7																	1097783		2194	4291	6485	SO:0001583	missense	115330			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.632C>T	7.37:g.1097783C>T	ENSP00000380283:p.Ser211Phe		Q86SP5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S211F	ENST00000397095.1	37	c.632	CCDS5321.1	7	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903336	0.17760	.	.	ENSG00000164849	ENST00000444847;ENST00000397095;ENST00000500070;ENST00000297468	T;T;T	0.34859	1.34;1.34;1.34	4.88	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.311359	0.30686	N	0.009085	T	0.20455	0.0492	N	0.19112	0.55	0.20307	N	0.999912	P	0.41313	0.745	B	0.39840	0.311	T	0.09250	-1.0683	10	0.59425	D	0.04	-11.654	5.3765	0.16168	0.0:0.3904:0.0:0.6096	.	211	Q96CH1	GP146_HUMAN	F	211;211;129;211	ENSP00000410743:S211F;ENSP00000380283:S211F;ENSP00000297468:S211F	ENSP00000297468:S211F	S	+	2	0	GPR146	1064309	0.657000	0.27393	0.002000	0.10522	0.004000	0.04260	3.691000	0.54720	0.486000	0.27676	0.511000	0.50034	TCC	GPR146	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.687	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR146	HGNC	protein_coding	OTTHUMT00000206855.1	C	NM_138445		1097783	1	no_errors	ENST00000297468	ensembl	human	known	70_37	missense	SNP	0.368	T	T	1097783	C	T	1097783	3	4	101	1	0	0	0	0	1	0	0	0	6671	855	30	1	634	1	GPR146	7	1097783	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		1097783	158040880	132	14763										
INTS1	26173	genome.wustl.edu	37	chr7	1511263	1511263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	catctcgtctatgtcactcaGaacctccagcagatctgaca	6	14	5	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:1511263G>A	ENST00000404767.3	-	45	6284	c.6199C>T	c.(6199-6201)Ctg>Ttg	p.L2067L	INTS1_ENST00000389470.4_Silent_p.L2271L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	2067					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATGTCACTCAGAACCTCCAGC	0.637																																																	0													68	78	75					7																	1511263		1991	4163	6154	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.6199C>T	7.37:g.1511263G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L2271	ENST00000404767.3	37	c.6811	CCDS47526.1	7																																																																																			INTS1	-	superfamily_ARM-type_fold		0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1511263	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.997	A	A	1511263	G	A	1511263	2	1	101	1	0	0	0	0	0	0	0	1	7795	933	33	1		1	INTS1	7	1511263	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	413480	1511263	157627400	133	14764										
RBAK	57786	genome.wustl.edu	37	chr7	5104371	5104371	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acacacacgggagagaagccCtatcagtgtagcgagtgtgg	14	9	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:5104371C>G	ENST00000353796.3	+	6	1608	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	RBAK_ENST00000396912.1_Silent_p.P428P|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	428	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGAAGCCCTATCAGTGTA	0.398																																																	0													56	54	55					7																	5104371		2203	4300	6503	SO:0001819	synonymous_variant	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1284C>G	7.37:g.5104371C>G			A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P428	ENST00000353796.3	37	c.1284	CCDS5337.1	7																																																																																			RBAK	-	pfscan_Znf_C2H2		0.398	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	C	NM_021163		5104371	1	no_errors	ENST00000353796	ensembl	human	known	70_37	silent	SNP	0.979	G	G	5104371	C	G	5104371	2	3	101	1	0	0	0	0	0	0	0	1	13130	668	24	4		4	RBAK	7	5104371	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3593108	5104371	154034292	134	14765										
TXNDC3	51314	genome.wustl.edu	37	chr7	37936496	37936496	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccatctatggtcatgattctGaccaagtggaatgctgttgc	10	9	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:37936496G>A	ENST00000199447.4	+	17	1941	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.L523L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	523	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCATGATTCTGACCAAGTGGA	0.483																																																	0													117	112	114					7																	37936496		2203	4300	6503	SO:0001819	synonymous_variant	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1569G>A	7.37:g.37936496G>A			Q9NZH1	Silent	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.L523	ENST00000199447.4	37	c.1569	CCDS5452.1	7																																																																																			NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.483	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	G	NM_016616		37936496	1	no_errors	ENST00000199447	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37936496	G	A	37936496	2	1	101	1	0	0	0	0	0	0	0	1	16829	1277	45	1		1	TXNDC3	7	37936496	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	32832125	37936496	121202167	135	14766										
INHBA	3624	genome.wustl.edu	37	chr7	41729812	41729812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgctcacaggcaatccgaacGtccagggagctcttgccctg	11	14	2	0	rs370035610		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:41729812G>A	ENST00000242208.4	-	3	963	c.717C>T	c.(715-717)gaC>gaT	p.D239D	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.D239D|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	239					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAATCCGAACGTCCAGGGAGC	0.562										TSP Lung(11;0.080)																																							0								G		0,4406		0,0,2203	48	48	48		717	-1.8	0.6	7		48	1,8599		0,1,4299	no	coding-synonymous	INHBA	NM_002192.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		239/427	41729812	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.717C>T	7.37:g.41729812G>A			Q14599	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.D239	ENST00000242208.4	37	c.717	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	G			41729812	-1	no_errors	ENST00000242208	ensembl	human	known	70_37	silent	SNP	0.985	A	A	41729812	G	A	41729812	2	1	101	1	0	0	0	0	0	0	0	1	7761	1136	40	2		2	INHBA	7	41729812	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3793316	41729812	117408851	136	14767										
GLI3	2737	genome.wustl.edu	37	chr7	42004460	42004460	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cactgagctgtcctgactgcAgagcaaggctgtccctcggc	12	14	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:42004460A>T	ENST00000395925.3	-	15	4295	c.4211T>A	c.(4210-4212)cTg>cAg	p.L1404Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1404					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCTGACTGCAGAGCAAGGCT	0.597									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													69	71	70					7																	42004460		2203	4299	6502	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4211T>A	7.37:g.42004460A>T	ENSP00000379258:p.Leu1404Gln		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1404Q	ENST00000395925.3	37	c.4211	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	A	8.710	0.911747	0.17907	.	.	ENSG00000106571	ENST00000395925	T	0.14022	2.54	5.42	4.22	0.49857	.	0.585048	0.18686	N	0.134001	T	0.08758	0.0217	N	0.22421	0.69	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.18871	-1.0323	10	0.27785	T	0.31	.	8.1939	0.31385	0.5841:0.0:0.0:0.4159	.	1404	P10071	GLI3_HUMAN	Q	1404	ENSP00000379258:L1404Q	ENSP00000379258:L1404Q	L	-	2	0	GLI3	41970985	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	3.387000	0.52501	2.039000	0.60335	0.533000	0.62120	CTG	GLI3	-	NULL		0.597	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	A	NM_000168		42004460	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.999	T	T	42004460	A	T	42004460	3	4	101	1	0	0	0	0	1	0	0	0	6458	188	7	5	535	5	GLI3	7	42004460	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	274648	42004460	117134203	137	14768										
PKD1L1	168507	genome.wustl.edu	37	chr7	47869022	47869022	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgcataggtaattttttttaCtttttcaacctcgcctgcac	5	10	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:47869022C>A	ENST00000289672.2	-	44	6786		c.e44+1			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTTTTTTTACTTTTTCAACC	0.408																																																	0													61	67	65					7																	47869022		2203	4300	6503	SO:0001630	splice_region_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6735+1G>T	7.37:g.47869022C>A			Q6UWK1	Splice_Site	SNP	-	e44+1	ENST00000289672.2	37	c.6735+1	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588910	0.28357	.	.	ENSG00000158683	ENST00000289672	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3343	0.49494	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1L1	47835547	0.408000	0.25360	0.027000	0.17364	0.103000	0.19146	2.942000	0.49018	2.034000	0.60081	0.558000	0.71614	.	PKD1L1	-	-		0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	C	NM_138295	Intron	47869022	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	splice_site	SNP	0.093	A	A	47869022	C	A	47869022	5	1	101	1	0	0	0	0	0	0	1	0	11988	579	20	4	1869	4	PKD1L1	7	47869022	Splice_Site	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	5864562	47869022	111269641	138	14769										
BAZ1B	9031	genome.wustl.edu	37	chr7	72856672	72856672	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tttatgcaacagagccactaGacactgttctgtcttcacca	6	12	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:72856672G>C	ENST00000339594.4	-	19	4644	c.4306C>G	c.(4306-4308)Cta>Gta	p.L1436V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L1436V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1436					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGCCACTAGACACTGTTCT	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													142	127	132					7																	72856672		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4306C>G	7.37:g.72856672G>C	ENSP00000342434:p.Leu1436Val		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1436V	ENST00000339594.4	37	c.4306	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105091	0.37145	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.18810	2.19;2.19	5.54	5.54	0.83059	Bromodomain (3);	0.196883	0.45126	D	0.000399	T	0.12220	0.0297	L	0.27053	0.805	0.33330	D	0.568392	P	0.34662	0.462	B	0.22386	0.039	T	0.16247	-1.0409	10	0.37606	T	0.19	-14.129	9.4421	0.38675	0.0777:0.1447:0.7776:0.0	.	1436	Q9UIG0	BAZ1B_HUMAN	V	1436	ENSP00000342434:L1436V;ENSP00000385442:L1436V	ENSP00000342434:L1436V	L	-	1	2	BAZ1B	72494608	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.070000	0.50033	2.591000	0.87537	0.643000	0.83706	CTA	BAZ1B	-	superfamily_Bromodomain,smart_Bromodomain		0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	G	NM_032408		72856672	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	0.995	C	C	72856672	G	C	72856672	3	2	101	1	0	0	0	0	1	0	0	0	1331	933	33	1	149	1	BAZ1B	7	72856672	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	24987650	72856672	86281991	139	14770										
CASD1	64921	genome.wustl.edu	37	chr7	94139496	94139496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggtggccgtgctgctgctcGcagcgtgccacctcgcctcc	13	17	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:94139496G>T	ENST00000297273.4	+	1	387	c.100G>T	c.(100-102)Gca>Tca	p.A34S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	34						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCTGCTGCTCGCAGCGTGCCA	0.731																																																	0													29	22	25					7																	94139496		1749	3235	4984	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.100G>T	7.37:g.94139496G>T	ENSP00000297273:p.Ala34Ser		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.A34S	ENST00000297273.4	37	c.100	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695292	0.30052	.	.	ENSG00000127995	ENST00000297273	T	0.44083	0.93	3.17	1.24	0.21308	Cyclin-like (1);	0.544901	0.16632	U	0.206018	T	0.15522	0.0374	N	0.02539	-0.55	0.20975	N	0.999813	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.15093	-1.0449	10	0.66056	D	0.02	.	3.6831	0.08317	0.2333:0.0:0.5729:0.1938	.	34;34;34	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	S	34	ENSP00000297273:A34S	ENSP00000297273:A34S	A	+	1	0	CASD1	93977432	0.763000	0.28462	0.990000	0.47175	0.941000	0.58515	0.613000	0.24299	0.455000	0.26910	-0.380000	0.06706	GCA	CASD1	-	superfamily_Cyclin-like		0.731	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	G	NM_022900		94139496	1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	0.481	T	T	94139496	G	T	94139496	3	4	101	1	0	0	0	0	1	0	0	0	2669	1087	38	2	102	2	CASD1	7	94139496	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	21282824	94139496	64999167	140	14771										
SRRT	51593	genome.wustl.edu	37	chr7	100482406	100482407	+	Missense_Mutation	DNP	GG	GG	TT													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acaaaacaaagaagtcggagGgtgatggggacaaggaagag							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:100482406_100482407GG>TT	ENST00000347433.4	+	8	1146_1147	c.988_989GG>TT	c.(988-990)GGt>TTt	p.G330F	SRRT_ENST00000388793.4_Missense_Mutation_p.G330F|SRRT_ENST00000457580.2_Missense_Mutation_p.G330F|SRRT_ENST00000432932.1_Missense_Mutation_p.G330F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	330	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAAGTCGGAGGGTGATGGGGAC	0.51																																																	0																																										SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	Exception_encountered	7.37:g.100482406_100482407delinsTT	ENSP00000314491:p.Gly330Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.G330C|p.G330V	ENST00000347433.4	37	c.988|c.989	CCDS34709.1	7																																																																																			SRRT	-	NULL		0.51	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482406|100482407	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	T	TT	100482407	GG	TT	100482406	3	4	101	1	0	0	0	0	1	0	0	0	15202	1232	43	4	1014	4	SRRT	7	100482406	Missense_Mutation	DNP	GG	TCGA-EK-A2PM-01A-11D-A18J-09	6342910	100482406	58656257	141	14772										
RELN	5649	genome.wustl.edu	37	chr7	103191723	103191723	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggatccgcggatgagctatcAgtcgaacagccaacgttgat	12	10	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:103191723A>T	ENST00000428762.1	-	41	6252	c.6093T>A	c.(6091-6093)acT>acA	p.T2031T	RELN_ENST00000424685.2_Silent_p.T2031T|RELN_ENST00000343529.5_Silent_p.T2031T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2031					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGAGCTATCAGTCGAACAGC	0.483																																					NSCLC(146;835 1944 15585 22231 52158)												0													48	42	44					7																	103191723		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6093T>A	7.37:g.103191723A>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.T2031	ENST00000428762.1	37	c.6093	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	A	NM_005045		103191723	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	0.987	T	T	103191723	A	T	103191723	2	4	101	1	0	0	0	0	0	0	0	1	13250	175	7	5		5	RELN	7	103191723	Silent	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	2709317	103191723	55946940	142	14773										
CBLL1	79872	genome.wustl.edu	37	chr7	107398799	107398799	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caccaccaactgaaatccctGagcgttttataatgccacca	5	14	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:107398799G>C	ENST00000440859.3	+	6	1119	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	CBLL1_ENST00000222597.2_Missense_Mutation_p.E217Q|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	218	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGAAATCCCTGAGCGTTTTAT	0.473																																																	0													173	166	168					7																	107398799		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.652G>C	7.37:g.107398799G>C	ENSP00000401277:p.Glu218Gln		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	pfscan_Znf_RING	p.E218Q	ENST00000440859.3	37	c.652	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746722	0.49257	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32515	1.45;1.46;1.55	5.14	5.14	0.70334	.	0.284293	0.36778	N	0.002405	T	0.23806	0.0576	N	0.14661	0.345	0.47308	D	0.999387	B;B	0.23185	0.039;0.081	B;B	0.28139	0.05;0.086	T	0.05099	-1.0906	10	0.35671	T	0.21	-0.4204	18.9708	0.92713	0.0:0.0:1.0:0.0	.	217;218	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	218;97;217;168;164	ENSP00000401277:E218Q;ENSP00000222597:E217Q;ENSP00000410615:E168Q	ENSP00000222597:E217Q	E	+	1	0	CBLL1	107186035	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.774000	0.91767	2.558000	0.86282	0.655000	0.94253	GAG	CBLL1	-	NULL		0.473	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	G	NM_024814		107398799	1	no_errors	ENST00000440859	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107398799	G	C	107398799	3	2	101	1	0	0	0	0	1	0	0	0	2708	1291	45	1	674	1	CBLL1	7	107398799	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4207076	107398799	51739864	143	14774										
ST7	7982	genome.wustl.edu	37	chr7	116861992	116861992	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacagctttccatgaagtctCagtttacccaaagaaggagc	8	11	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:116861992C>G	ENST00000393446.2	+	13	1655	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	ST7_ENST00000432298.1_Nonsense_Mutation_p.S459*|ST7_ENST00000393449.1_Nonsense_Mutation_p.S500*|ST7_ENST00000422922.1_Nonsense_Mutation_p.S436*|ST7_ENST00000393451.3_Nonsense_Mutation_p.S482*|ST7_ENST00000323984.3_Nonsense_Mutation_p.S505*|ST7_ENST00000393444.3_Nonsense_Mutation_p.S439*|ST7_ENST00000393443.1_Nonsense_Mutation_p.S427*|ST7_ENST00000393447.4_Nonsense_Mutation_p.S462*|ST7_ENST00000265437.5_Nonsense_Mutation_p.S505*			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CATGAAGTCTCAGTTTACCCA	0.483																																																	0													138	139	138					7																	116861992		2203	4300	6503	SO:0001587	stop_gained	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1352C>G	7.37:g.116861992C>G	ENSP00000377092:p.Ser451*		A8K137|B4DRQ2	Nonsense_Mutation	SNP	pfam_ST7	p.S505*	ENST00000393446.2	37	c.1514		7	.	.	.	.	.	.	.	.	.	.	C	43	10.391332	0.99396	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000432298;ENST00000422922;ENST00000393443;ENST00000393447;ENST00000393444	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9997	19.8046	0.96525	0.0:1.0:0.0:0.0	.	.	.	.	X	451;505;482;505;500;459;436;427;462;439	.	ENSP00000265437:S505X	S	+	2	0	ST7	116649228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.748000	0.94277	0.655000	0.94253	TCA	ST7	-	pfam_ST7		0.483	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000319687.1	C	NM_021908		116861992	1	no_errors	ENST00000265437	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	116861992	C	G	116861992	4	3	101	1	0	0	0	0	0	1	0	0	15259	838	29	1	1572	1	ST7	7	116861992	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9463193	116861992	42276671	144	14775										
CFTR	1080	genome.wustl.edu	37	chr7	117251838	117251838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcatcttcttcattgctgttAccttcatttccattttaaca	2	11	5	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:117251838A>G	ENST00000003084.6	+	20	3475	c.3343A>G	c.(3343-3345)Acc>Gcc	p.T1115A	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.T1054A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1115	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CATTGCTGTTACCTTCATTTC	0.328									Cystic Fibrosis																																								0													90	80	83					7																	117251838		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3343A>G	7.37:g.117251838A>G	ENSP00000003084:p.Thr1115Ala		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.T1115A	ENST00000003084.6	37	c.3343	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	A	1.611	-0.524084	0.04141	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89681	-2.55;-2.55;-2.55	5.38	4.24	0.50183	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.105856	0.64402	D	0.000002	T	0.70343	0.3213	N	0.05608	-0.01	0.29913	N	0.823376	B	0.02656	0.0	B	0.10450	0.005	T	0.59643	-0.7416	10	0.02654	T	1	-10.3369	4.5195	0.11952	0.6908:0.0:0.1644:0.1448	.	1115	P13569	CFTR_HUMAN	A	1115;1054;1085	ENSP00000003084:T1115A;ENSP00000403677:T1054A;ENSP00000389119:T1085A	ENSP00000003084:T1115A	T	+	1	0	CFTR	117039074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.699000	0.47077	0.998000	0.38996	0.528000	0.53228	ACC	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	A	NM_000492		117251838	1	no_errors	ENST00000003084	ensembl	human	known	70_37	missense	SNP	0.998	G	G	117251838	A	G	117251838	3	3	101	1	0	0	0	0	1	0	0	0	3299	391	14	5	3421	5	CFTR	7	117251838	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	389846	117251838	41886825	145	14776										
KCND2	3751	genome.wustl.edu	37	chr7	120373062	120373062	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cctgttccggtgattgtatcCaacttcagtcgcatctacca	7	13	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:120373062C>A	ENST00000331113.4	+	2	2186	c.1221C>A	c.(1219-1221)tcC>tcA	p.S407S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	407					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGATTGTATCCAACTTCAGTC	0.483																																																	0													187	156	167					7																	120373062		2203	4300	6503	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1221C>A	7.37:g.120373062C>A			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S407	ENST00000331113.4	37	c.1221	CCDS5776.1	7																																																																																			KCND2	-	pfam_Ion_trans_2,prints_K_chnl		0.483	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	C	NM_012281		120373062	1	no_errors	ENST00000331113	ensembl	human	known	70_37	silent	SNP	0.992	A	A	120373062	C	A	120373062	2	1	101	1	0	0	0	0	0	0	0	1	8039	581	21	4		4	KCND2	7	120373062	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3121224	120373062	38765601	146	14777										
RNF133	168433	genome.wustl.edu	37	chr7	122338409	122338409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acaaaagagaccaaatagtgAttcatccagatgatgtgctt	8	7	1	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:122338409A>G	ENST00000340112.2	-	1	801	c.564T>C	c.(562-564)aaT>aaC	p.N188N	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	188					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCAAATAGTGATTCATCCAGA	0.383																																					Colon(198;1778 2057 7449 19869 45985)												0													124	109	114					7																	122338409		2203	4300	6503	SO:0001819	synonymous_variant	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.564T>C	7.37:g.122338409A>G			A4D0W2|Q8N7G7	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N188	ENST00000340112.2	37	c.564	CCDS5784.1	7																																																																																			RNF133	-	NULL		0.383	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	A	NM_139175		122338409	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	silent	SNP	1.000	G	G	122338409	A	G	122338409	2	3	101	1	0	0	0	0	0	0	0	1	13469	330	12	5		5	RNF133	7	122338409	Silent	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	1965347	122338409	36800254	147	14778										
GPR37	2861	genome.wustl.edu	37	chr7	124404620	124404620	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agctggagggccgtggggttCcctctccccaaagtttcaga	13	12	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:124404620C>T	ENST00000303921.2	-	1	1061	c.411G>A	c.(409-411)ggG>ggA	p.G137G		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	137					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCGTGGGGTTCCCTCTCCCCA	0.647																																																	0													68	80	76					7																	124404620		2202	4300	6502	SO:0001819	synonymous_variant	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.411G>A	7.37:g.124404620C>T			A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn	p.G137	ENST00000303921.2	37	c.411	CCDS5792.1	7																																																																																			GPR37	-	NULL		0.647	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	C	NM_005302		124404620	-1	no_errors	ENST00000303921	ensembl	human	known	70_37	silent	SNP	0.005	T	T	124404620	C	T	124404620	2	4	101	1	0	0	0	0	0	0	0	1	6710	842	30	1		1	GPR37	7	124404620	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2066211	124404620	34734043	148	14779										
GRM8	2918	genome.wustl.edu	37	chr7	126409937	126409937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	accattaaaatttacagcccGaatataaccaagtagctctt	4	10	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:126409937G>A	ENST00000339582.2	-	7	2147	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	GRM8_ENST00000444921.2_Missense_Mutation_p.R447W|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R447W|GRM8_ENST00000405249.1_Missense_Mutation_p.R447W			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	447					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTACAGCCCGAATATAACCA	0.413										HNSCC(24;0.065)																																							0													115	107	110					7																	126409937		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1339C>T	7.37:g.126409937G>A	ENSP00000344173:p.Arg447Trp		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.R447W	ENST00000339582.2	37	c.1339	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289034	0.80914	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.78	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93710	0.7990	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.81914	0.995;0.648;0.987	D	0.94686	0.7870	10	0.66056	D	0.02	.	13.956	0.64150	0.0:0.0:0.819:0.181	.	447;447;447	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	W	447	ENSP00000344173:R447W;ENSP00000409790:R447W;ENSP00000351142:R447W;ENSP00000385731:R447W	ENSP00000344173:R447W	R	-	1	2	GRM8	126197173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.423000	0.66458	1.329000	0.45376	0.655000	0.94253	CGG	GRM8	-	pfam_ANF_lig-bd_rcpt		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	G			126409937	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126409937	G	A	126409937	3	1	101	1	0	0	0	0	1	0	0	0	6823	1057	37	1	1457	1	GRM8	7	126409937	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2005317	126409937	32728726	149	14780										
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138745836	138745836	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaggcacaaatgttggtcttCtgatgacatccttttgagtt	10	7	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:138745836C>T	ENST00000242351.5	-	9	2358	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R803K|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R681K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	681	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGTTGGTCTTCTGATGACATC	0.418																																																	0													277	229	245					7																	138745836		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2042G>A	7.37:g.138745836C>T	ENSP00000242351:p.Arg681Lys		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R681K	ENST00000242351.5	37	c.2042	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853917	0.71719	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.64803	-0.12;-0.12;-0.12	3.75	3.75	0.43078	WWE domain (1);	0.000000	0.52532	D	0.000069	T	0.80618	0.4657	M	0.90145	3.09	0.40839	D	0.983652	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	D	0.83726	0.0195	10	0.56958	D	0.05	.	11.3854	0.49782	0.0:1.0:0.0:0.0	.	681;681	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	K	681;803;681;441	ENSP00000242351:R681K;ENSP00000418385:R803K;ENSP00000419855:R681K	ENSP00000242351:R681K	R	-	2	0	ZC3HAV1	138396376	0.960000	0.32886	0.848000	0.33437	0.781000	0.44180	2.906000	0.48735	2.373000	0.80994	0.655000	0.94253	AGA	ZC3HAV1	-	pfscan_WWE-dom		0.418	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	C	NM_020119		138745836	-1	no_errors	ENST00000242351	ensembl	human	known	70_37	missense	SNP	0.868	T	T	138745836	C	T	138745836	3	4	101	1	0	0	0	0	1	0	0	0	17605	913	32	1	690	1	ZC3HAV1	7	138745836	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	12335899	138745836	20392827	150	14781										
OR2A12	346525	genome.wustl.edu	37	chr7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tggggcttttctttggcagcGccattgtcatgtacatggcc	12	10	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562																																																	0													143	139	140					7																	143792960		1926	4146	6072	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.760G>A	7.37:g.143792960G>A	ENSP00000386174:p.Ala254Thr		Q6IF43	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A254T	ENST00000408949.2	37	c.760	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141922	0.37825	.	.	ENSG00000221858	ENST00000408949	T	0.00169	8.63	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	L	0.49699	1.58	0.25415	N	0.988322	D	0.54964	0.969	P	0.51385	0.668	T	0.57051	-0.7877	9	0.66056	D	0.02	-14.278	8.0494	0.30568	0.1096:0.0:0.8903:0.0	.	254	Q8NGT7	O2A12_HUMAN	T	254	ENSP00000386174:A254T	ENSP00000386174:A254T	A	+	1	0	OR2A12	143423893	0.006000	0.16342	0.969000	0.41365	0.098000	0.18820	1.204000	0.32296	2.241000	0.73720	0.505000	0.49811	GCC	OR2A12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	G			143792960	1	no_errors	ENST00000408949	ensembl	human	known	70_37	missense	SNP	0.970	A	A	143792960	G	A	143792960	3	1	101	1	0	0	0	0	1	0	0	0	10999	1087	38	2	762	2	OR2A12	7	143792960	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5047124	143792960	15345703	151	14782										
ABP1	26	genome.wustl.edu	37	chr7	150557683	150557683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggcacccgcccgtggtctttGagcagtttcttcacaacaac	9	14	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:150557683G>C	ENST00000493429.1	+	6	2535	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.E670Q|AOC1_ENST00000360937.4_Missense_Mutation_p.E651Q|AOC1_ENST00000467291.1_Missense_Mutation_p.E651Q			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	651					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CGTGGTCTTTGAGCAGTTTCT	0.612																																																	0													119	132	128					7																	150557683		2079	4223	6302	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1951G>C	7.37:g.150557683G>C	ENSP00000418614:p.Glu651Gln		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E670Q	ENST00000493429.1	37	c.2008	CCDS43679.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.743|9.743	1.165331|1.165331	0.21538|0.21538	.|.	.|.	ENSG00000002726|ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714|ENST00000487631	T;T;T;T|.	0.03745|.	3.82;3.82;3.82;3.82|.	5.05|5.05	4.15|4.15	0.48705|0.48705	Copper amine oxidase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57548|0.57548	0.2061|0.2061	L|L	0.58428|0.58428	1.81|1.81	0.52099|0.52099	D|D	0.99994|0.99994	B;B|.	0.28350|.	0.044;0.208|.	B;B|.	0.29942|.	0.04;0.109|.	T|T	0.51458|0.51458	-0.8703|-0.8703	10|6	0.26408|0.07990	T|T	0.33|0.79	-40.7188|-40.7188	13.0489|13.0489	0.58944|0.58944	0.0:0.1633:0.8367:0.0|0.0:0.1633:0.8367:0.0	.|.	670;651|.	C9J690;P19801|.	.;ABP1_HUMAN|.	Q|F	651;651;651;670;527|175	ENSP00000418614:E651Q;ENSP00000418328:E651Q;ENSP00000354193:E651Q;ENSP00000411613:E670Q|.	ENSP00000354193:E651Q|ENSP00000417051:L175F	E|L	+|+	1|3	0|2	ABP1|ABP1	150188616|150188616	0.998000|0.998000	0.40836|0.40836	0.973000|0.973000	0.42090|0.42090	0.210000|0.210000	0.24377|0.24377	4.285000|4.285000	0.58989|0.58989	1.090000|1.090000	0.41315|0.41315	0.491000|0.491000	0.48974|0.48974	GAG|TTG	ABP1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.612	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	G	NM_001091		150557683	1	no_errors	ENST00000416793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150557683	G	C	150557683	3	2	101	1	0	0	0	0	1	0	0	0	98	1291	45	1	1961	1	ABP1	7	150557683	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	6764723	150557683	8580980	152	14783										
POLR3D	661	genome.wustl.edu	37	chr8	22105764	22105764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acagacgaagaaactaaacaGatcttgcgtatgctggagaa	10	7	1	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:22105764G>C	ENST00000397802.4	+	4	674	c.459G>C	c.(457-459)caG>caC	p.Q153H	POLR3D_ENST00000306433.4_Missense_Mutation_p.Q153H			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	153					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAACTAAACAGATCTTGCGTA	0.507																																																	0													105	109	108					8																	22105764		2203	4300	6503	SO:0001583	missense	661			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.459G>C	8.37:g.22105764G>C	ENSP00000380904:p.Gln153His		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc4	p.Q153H	ENST00000397802.4	37	c.459	CCDS34858.1	8	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520185	0.27211	.	.	ENSG00000168495	ENST00000306433;ENST00000519237;ENST00000397802	.	.	.	5.74	3.6	0.41247	.	0.052099	0.85682	D	0.000000	T	0.43255	0.1239	L	0.36672	1.1	0.38952	D	0.958373	B	0.06786	0.001	B	0.01281	0.0	T	0.43015	-0.9417	9	0.51188	T	0.08	-19.7222	6.6525	0.22969	0.0811:0.1319:0.6517:0.1353	.	153	P05423	RPC4_HUMAN	H	153	.	ENSP00000303088:Q153H	Q	+	3	2	POLR3D	22161709	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.979000	0.40608	1.385000	0.46445	0.655000	0.94253	CAG	POLR3D	-	NULL		0.507	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2	G	NM_001722		22105764	1	no_errors	ENST00000397802	ensembl	human	known	70_37	missense	SNP	0.998	C	C	22105764	G	C	22105764	3	2	101	1	0	0	0	0	1	0	0	0	12255	933	33	1	473	1	POLR3D	8	22105764	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09		22105764	124258258	153	14784										
SORBS3	10174	genome.wustl.edu	37	chr8	22419414	22419414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcccagcaaagacctgcccAcaggcccggcccggcaacat	10	18	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:22419414A>G	ENST00000240123.7	+	7	937	c.554A>G	c.(553-555)cAc>cGc	p.H185R		NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	185	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGACCTGCCCACAGGCCCGGC	0.687											OREG0018612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53	53	53					8																	22419414		2203	4300	6503	SO:0001583	missense	10174				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.554A>G	8.37:g.22419414A>G	ENSP00000240123:p.His185Arg	756	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.H185R	ENST00000240123.7	37	c.554	CCDS6031.1	8	.	.	.	.	.	.	.	.	.	.	A	6.379	0.437966	0.12104	.	.	ENSG00000120896	ENST00000240123	T	0.05649	3.41	3.97	-1.55	0.08558	Sorbin-like (1);	1.813320	0.03136	N	0.165891	T	0.03348	0.0097	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	10	0.24483	T	0.36	0.0056	3.8932	0.09128	0.1607:0.2877:0.4538:0.0978	.	185	O60504	VINEX_HUMAN	R	185	ENSP00000240123:H185R	ENSP00000240123:H185R	H	+	2	0	SORBS3	22475359	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.475000	0.06599	-0.289000	0.09038	-0.302000	0.09304	CAC	SORBS3	-	pfscan_Sorb		0.687	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	A	NM_005775		22419414	1	no_errors	ENST00000240123	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22419414	A	G	22419414	3	3	101	1	0	0	0	0	1	0	0	0	14959	159	6	5	576	5	SORBS3	8	22419414	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	313650	22419414	123944608	154	14785										
PLAT	5327	genome.wustl.edu	37	chr8	42038032	42038032	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cctggaagcagtgggcggcaGagagaatccagcaggagctg	17	9	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:42038032G>C	ENST00000220809.4	-	10	1317	c.1061C>G	c.(1060-1062)tCt>tGt	p.S354C	PLAT_ENST00000519510.1_Missense_Mutation_p.S291C|PLAT_ENST00000524009.1_Missense_Mutation_p.S265C|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.S228C|PLAT_ENST00000429089.2_Missense_Mutation_p.S354C|PLAT_ENST00000352041.3_Missense_Mutation_p.S308C	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	354	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GTGGGCGGCAGAGAGAATCCA	0.597																																																	0													70	78	76					8																	42038032		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1061C>G	8.37:g.42038032G>C	ENSP00000220809:p.Ser354Cys		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S354C	ENST00000220809.4	37	c.1061	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399198	0.62177	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.417330	0.28977	N	0.013527	D	0.92971	0.7763	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.991;0.909;0.989	D	0.93367	0.6732	10	0.87932	D	0	.	14.9871	0.71356	0.0:0.1421:0.8578:0.0	.	228;265;291;354;308;354	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	C	354;354;308;291;228;265	ENSP00000392045:S354C;ENSP00000220809:S354C;ENSP00000270188:S308C;ENSP00000428886:S291C;ENSP00000407861:S228C;ENSP00000429401:S265C	ENSP00000220809:S354C	S	-	2	0	PLAT	42157189	1.000000	0.71417	0.689000	0.30133	0.433000	0.31745	6.477000	0.73591	2.595000	0.87683	0.650000	0.86243	TCT	PLAT	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.597	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	G	NM_000930		42038032	-1	no_errors	ENST00000220809	ensembl	human	known	70_37	missense	SNP	0.968	C	C	42038032	G	C	42038032	3	2	101	1	0	0	0	0	1	0	0	0	12045	942	33	1	647	1	PLAT	8	42038032	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	19618618	42038032	104325990	155	14786										
IKBKB	3551	genome.wustl.edu	37	chr8	42177143	42177143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcctggagggaaatggagcaGgctgtggagctctgtgggcg	20	7	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:42177143G>T	ENST00000520810.1	+	15	1743	c.1557G>T	c.(1555-1557)caG>caT	p.Q519H	IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q296H|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q517H|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q460H|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	519					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAATGGAGCAGGCTGTGGAGC	0.433											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	66	66					8																	42177143		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1557G>T	8.37:g.42177143G>T	ENSP00000430684:p.Gln519His	906	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q519H	ENST00000520810.1	37	c.1557	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766764	0.69878	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.59436	1.845	0.48395	D	0.999649	D;D;B;D	0.71674	0.998;0.997;0.003;0.994	D;D;B;P	0.79784	0.993;0.946;0.003;0.885	T	0.33317	-0.9873	10	0.62326	D	0.03	.	10.2407	0.43310	0.1494:0.0:0.8506:0.0	.	460;517;296;519	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	H	519;460;517;296	ENSP00000430684:Q519H;ENSP00000404920:Q460H;ENSP00000430868:Q517H;ENSP00000369030:Q296H	ENSP00000369030:Q296H	Q	+	3	2	IKBKB	42296300	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	1.837000	0.39201	2.643000	0.89663	0.563000	0.77884	CAG	IKBKB	-	NULL		0.433	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	G			42177143	1	no_errors	ENST00000520810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42177143	G	T	42177143	3	4	101	1	0	0	0	0	1	0	0	0	7631	991	35	4	1611	4	IKBKB	8	42177143	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	139111	42177143	104186879	156	14787										
SDR16C5	195814	genome.wustl.edu	37	chr8	57219286	57219286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttataaaaaaggggcacacaAtcgtggttttgatccccttt	8	8	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:57219286A>G	ENST00000303749.3	-	5	1296	c.659T>C	c.(658-660)aTt>aCt	p.I220T	SDR16C5_ENST00000396721.2_Missense_Mutation_p.I176T|SDR16C5_ENST00000522671.1_Missense_Mutation_p.I220T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	220					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGGGCACACAATCGTGGTTTT	0.333																																																	0													79	77	78					8																	57219286		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.659T>C	8.37:g.57219286A>G	ENSP00000307607:p.Ile220Thr		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I220T	ENST00000303749.3	37	c.659	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	A	18.74	3.687514	0.68157	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;T	0.88896	-2.44;-2.44;0.78	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.052550	0.85682	D	0.000000	D	0.87374	0.6161	L	0.46741	1.465	0.58432	D	0.999999	B;P;P	0.36789	0.017;0.57;0.544	B;B;P	0.45071	0.028;0.274;0.468	D	0.84084	0.0386	10	0.21014	T	0.42	.	11.6421	0.51240	0.9289:0.0:0.0711:0.0	.	176;220;220	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	176;220;220;220	ENSP00000379947:I176T;ENSP00000307607:I220T;ENSP00000431010:I220T	ENSP00000307607:I220T	I	-	2	0	SDR16C5	57381840	1.000000	0.71417	0.477000	0.27303	0.932000	0.56968	7.257000	0.78362	2.117000	0.64856	0.533000	0.62120	ATT	SDR16C5	-	prints_Glc/ribitol_DH		0.333	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	A	NM_138969		57219286	-1	no_errors	ENST00000303749	ensembl	human	known	70_37	missense	SNP	0.976	G	G	57219286	A	G	57219286	3	3	101	1	0	0	0	0	1	0	0	0	14001	101	4	5	282	5	SDR16C5	8	57219286	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	15042143	57219286	89144736	157	14788										
TRIM55	84675	genome.wustl.edu	37	chr8	67064640	67064640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gatgaagaagaagaagaaggCggagaaggagaaaaagaagg	17	1	0	8			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:67064640C>T	ENST00000315962.4	+	8	1387	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	TRIM55_ENST00000353317.5_Silent_p.G338G|TRIM55_ENST00000276573.7_Silent_p.G338G|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	338					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			aagaagaaggcggagaaggag	0.418																																																	0													30	28	29					8																	67064640		2203	4300	6503	SO:0001819	synonymous_variant	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1014C>T	8.37:g.67064640C>T			B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.G338	ENST00000315962.4	37	c.1014	CCDS6184.1	8																																																																																			TRIM55	-	NULL		0.418	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	C	NM_184085		67064640	1	no_errors	ENST00000315962	ensembl	human	known	70_37	silent	SNP	0.085	T	T	67064640	C	T	67064640	2	4	101	1	0	0	0	0	0	0	0	1	16560	755	27	2		2	TRIM55	8	67064640	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9845354	67064640	79299382	158	14789										
C8orf34	116328	genome.wustl.edu	37	chr8	69699708	69699708	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	taaagcaattgcaggtagttCatcaaccatggatcttgcca	8	9	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:69699708C>T	ENST00000539993.1	+	12	1777	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	C8orf34_ENST00000325233.3_Missense_Mutation_p.H154Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.H496Y|C8orf34_ENST00000337103.4_Missense_Mutation_p.H385Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	410										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCAGGTAGTTCATCAACCATG	0.343																																																	0													119	110	113					8																	69699708		2202	4300	6502	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1228C>T	8.37:g.69699708C>T	ENSP00000438159:p.His410Tyr		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.H496Y	ENST00000539993.1	37	c.1486		8	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172800	0.57584	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.50813	0.74;0.79;0.79;0.73	5.36	5.36	0.76844	.	0.301640	0.33092	N	0.005299	T	0.53222	0.1783	N	0.19112	0.55	0.36977	D	0.89411	D	0.61080	0.989	D	0.72982	0.979	T	0.55885	-0.8070	9	.	.	.	-16.7872	16.3753	0.83383	0.0:1.0:0.0:0.0	.	410	Q49A92	CH034_HUMAN	Y	496;410;385;154	ENSP00000427820:H496Y;ENSP00000438159:H410Y;ENSP00000337174:H385Y;ENSP00000319532:H154Y	.	H	+	1	0	C8orf34	69862262	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	4.716000	0.61916	2.657000	0.90304	0.655000	0.94253	CAT	C8orf34	-	NULL		0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		C	NM_052958		69699708	1	no_errors	ENST00000518698	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69699708	C	T	69699708	3	4	101	1	0	0	0	0	1	0	0	0	2427	826	29	1	1195	1	C8orf34	8	69699708	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2635068	69699708	76664314	159	14790										
KCNB2	9312	genome.wustl.edu	37	chr8	73849925	73849925	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aggtttcagcgccttgtcagGgaccttccaaagggctgtcc	12	12	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:73849925G>T	ENST00000523207.1	+	3	2923	c.2335G>T	c.(2335-2337)Gga>Tga	p.G779*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	779					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCCTTGTCAGGGACCTTCCAA	0.542																																																	0													49	54	52					8																	73849925		2203	4300	6503	SO:0001587	stop_gained	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2335G>T	8.37:g.73849925G>T	ENSP00000430846:p.Gly779*		Q7Z7D0|Q9BXD3	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.G779*	ENST00000523207.1	37	c.2335	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.678702	0.99237	.	.	ENSG00000182674	ENST00000523207	.	.	.	5.04	5.04	0.67666	.	0.792656	0.10636	N	0.651581	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.5564	0.91086	0.0:0.0:1.0:0.0	.	.	.	.	X	779	.	ENSP00000430846:G779X	G	+	1	0	KCNB2	74012479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.106000	0.64597	2.602000	0.87976	0.591000	0.81541	GGA	KCNB2	-	NULL		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73849925	1	no_errors	ENST00000523207	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	73849925	G	T	73849925	4	4	101	1	0	0	0	0	0	1	0	0	8033	1233	43	4	2341	4	KCNB2	8	73849925	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4150217	73849925	72514097	160	14791										
RPL7	6129	genome.wustl.edu	37	chr8	74203306	74203306	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	attcttctaataagcctgttGatctggtcctccctgttgcc	7	12	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:74203306G>A	ENST00000352983.2	-	6	1005	c.720C>T	c.(718-720)atC>atT	p.I240I	RPL7_ENST00000487500.1_5'UTR|RPL7_ENST00000396465.1_Silent_p.I200I|RPL7_ENST00000396466.1_Silent_p.I200I|RPL7_ENST00000396467.1_Silent_p.I200I			P18124	RL7_HUMAN	ribosomal protein L7	240					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			TAAGCCTGTTGATCTGGTCCT	0.428																																																	0													63	63	63					8																	74203306		2201	4300	6501	SO:0001819	synonymous_variant	6129			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.720C>T	8.37:g.74203306G>A			A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.I240	ENST00000352983.2	37	c.720	CCDS6212.1	8																																																																																			RPL7	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.428	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	HGNC	protein_coding	OTTHUMT00000259287.1	G	NM_000971		74203306	-1	no_errors	ENST00000352983	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74203306	G	A	74203306	2	1	101	1	0	0	0	0	0	0	0	1	13629	1280	45	1		1	RPL7	8	74203306	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	353381	74203306	72160716	161	14792										
HEY1	23462	genome.wustl.edu	37	chr8	80679867	80679867	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctcgtccagctcgctgtccGaggagctgtactcggggtga	14	12	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:80679867G>T	ENST00000354724.3	-	1	231	c.32C>A	c.(31-33)tCg>tAg	p.S11*	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000523976.1_5'Flank|HEY1_ENST00000337919.5_Nonsense_Mutation_p.S11*|RP11-26J3.1_ENST00000502766.2_lincRNA|HEY1_ENST00000435063.2_5'Flank	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	11					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CTCGCTGTCCGAGGAGCTGTA	0.692			T	NCOA2	mesenchymal chondrosarcoma																																			Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0													28	23	25					8																	80679867		2203	4300	6503	SO:0001587	stop_gained	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"Basic helix-loop-helix proteins"	4880	protein-coding gene	gene with protein product		602953	"hairy/enhancer-of-split related with YRPW motif 1"			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.32C>A	8.37:g.80679867G>T	ENSP00000346761:p.Ser11*		B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Nonsense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.S11*	ENST00000354724.3	37	c.32	CCDS6225.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.969792	0.97971	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919	.	.	.	4.11	3.22	0.36961	.	0.064921	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1696	12.941	0.58345	0.0:0.1653:0.8347:0.0	.	.	.	.	X	11	.	ENSP00000338272:S11X	S	-	2	0	HEY1	80842422	1.000000	0.71417	0.866000	0.34008	0.982000	0.71751	5.654000	0.67974	1.028000	0.39785	0.561000	0.74099	TCG	HEY1	-	NULL		0.692	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1	G	NM_012258		80679867	-1	no_errors	ENST00000337919	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	80679867	G	T	80679867	4	4	101	1	0	0	0	0	0	1	0	0	7098	1059	37	3	914	3	HEY1	8	80679867	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	6476561	80679867	65684155	162	14793										
ENPP2	5168	genome.wustl.edu	37	chr8	120583068	120583068	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcactgcaggtcgcccataGaggaggtgtctctctaaaaa	11	10	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:120583068G>C	ENST00000075322.6	-	20	1852	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	ENPP2_ENST00000427067.2_Silent_p.L619L|ENPP2_ENST00000522167.1_Silent_p.L233L|ENPP2_ENST00000518109.1_5'Flank|ENPP2_ENST00000522826.1_Silent_p.L623L|ENPP2_ENST00000259486.6_Silent_p.L650L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	598					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCGCCCATAGAGGAGGTGTC	0.343																																					Melanoma(20;305 879 2501 4818 31020)												0													45	45	45					8																	120583068		2203	4297	6500	SO:0001819	synonymous_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1794C>G	8.37:g.120583068G>C			A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L650	ENST00000075322.6	37	c.1950	CCDS34936.1	8																																																																																			ENPP2	-	NULL		0.343	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	G			120583068	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	silent	SNP	0.415	C	C	120583068	G	C	120583068	2	2	101	1	0	0	0	0	0	0	0	1	5142	929	33	1		1	ENPP2	8	120583068	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	39903201	120583068	25780954	163	14794										
FAM135B	51059	genome.wustl.edu	37	chr8	139160891	139160891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgtacagaaatccttcaatcTtcagttcttttttaaatttt	3	7	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:139160891T>A	ENST00000395297.1	-	14	3490	c.3320A>T	c.(3319-3321)aAg>aTg	p.K1107M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1107										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTTCAATCTTCAGTTCTTT	0.353										HNSCC(54;0.14)																																							0													59	57	58					8																	139160891		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3320A>T	8.37:g.139160891T>A	ENSP00000378710:p.Lys1107Met		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.K1107M	ENST00000395297.1	37	c.3320	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738444	0.69304	.	.	ENSG00000147724	ENST00000395297	T	0.17213	2.29	5.78	5.78	0.91487	.	0.102594	0.64402	D	0.000002	T	0.43277	0.1240	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.956	T	0.39231	-0.9624	10	0.87932	D	0	-32.2128	15.2978	0.73922	0.0:0.0:0.0:1.0	.	1107;1107	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	M	1107	ENSP00000378710:K1107M	ENSP00000378710:K1107M	K	-	2	0	FAM135B	139230073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.253000	0.51469	2.204000	0.70986	0.528000	0.53228	AAG	FAM135B	-	NULL		0.353	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	T	NM_015912		139160891	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139160891	T	A	139160891	3	1	101	1	0	0	0	0	1	0	0	0	5464	1609	56	5	928	5	FAM135B	8	139160891	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	18577823	139160891	7203131	164	14795										
RHPN1	114822	genome.wustl.edu	37	chr8	144460463	144460463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgatctcagtgcactttggaGaggacggcgcctcctacgag	13	11	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:144460463G>A	ENST00000289013.6	+	5	507	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	136	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCACTTTGGAGAGGACGGCGC	0.647																																																	0													33	41	38					8																	144460463		2007	4154	6161	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.406G>A	8.37:g.144460463G>A	ENSP00000289013:p.Glu136Lys		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.E136K	ENST00000289013.6	37	c.406	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796565	0.70567	.	.	ENSG00000158106	ENST00000289013	T	0.19532	2.14	4.88	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.72894	2.215	0.49483	D	0.999798	D	0.76494	0.999	D	0.70016	0.967	T	0.36817	-0.9732	10	0.72032	D	0.01	-37.2745	11.6247	0.51138	0.0883:0.0:0.9117:0.0	.	136	Q8TCX5-2	.	K	136	ENSP00000289013:E136K	ENSP00000289013:E136K	E	+	1	0	RHPN1	144531606	1.000000	0.71417	0.997000	0.53966	0.095000	0.18619	4.774000	0.62339	1.039000	0.40074	0.591000	0.81541	GAG	RHPN1	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.647	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	G			144460463	1	no_errors	ENST00000289013	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144460463	G	A	144460463	3	1	101	1	0	0	0	0	1	0	0	0	13380	943	33	1	424	1	RHPN1	8	144460463	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5299572	144460463	1903559	165	14796										
KANK1	23189	genome.wustl.edu	37	chr9	713097	713097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctggttggtctcaaaatgagGactatagcttgtgggccacc	12	9	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:713097G>T	ENST00000382303.1	+	7	2983	c.2331G>T	c.(2329-2331)agG>agT	p.R777S	KANK1_ENST00000382297.2_Missense_Mutation_p.R777S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.R619S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	777					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCAAAATGAGGACTATAGCTT	0.527																																																	0													83	86	85					9																	713097		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2331G>T	9.37:g.713097G>T	ENSP00000371740:p.Arg777Ser		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R777S	ENST00000382303.1	37	c.2331	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887224	0.72410	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.43688	0.94;0.94;0.94	5.97	4.15	0.48705	.	0.000000	0.64402	D	0.000005	T	0.62109	0.2401	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63871	-0.6539	10	0.87932	D	0	-24.5017	9.1294	0.36835	0.3288:0.0:0.6712:0.0	.	777;777	Q5W0W1;Q14678	.;KANK1_HUMAN	S	777;777;777;619	ENSP00000371740:R777S;ENSP00000371734:R777S;ENSP00000371730:R619S	ENSP00000346479:R777S	R	+	3	2	KANK1	703097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	0.872000	0.35775	0.655000	0.94253	AGG	KANK1	-	NULL		0.527	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		713097	1	no_errors	ENST00000382297	ensembl	human	known	70_37	missense	SNP	1.000	T	T	713097	G	T	713097	3	4	101	1	0	0	0	0	1	0	0	0	7996	1165	41	3	2337	3	KANK1	9	713097	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09		713097	140500334	166	14797										
CDKN2A	1029	genome.wustl.edu	37	chr9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	15	15	0	0	rs121913384		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:21971096C>T	ENST00000304494.5	-	2	532	c.262G>A	c.(262-264)Gag>Aag	p.E88K	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102E|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM034218	CDKN2A	M	rs121913384						13	16	15					9																	21971096		2176	4259	6435	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>A	9.37:g.21971096C>T	ENSP00000307101:p.Glu88Lys		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.G143E	ENST00000304494.5	37	c.428	CCDS6510.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960185|3.960185	0.74016|0.74016	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.93426|0.87334	-3.22;-3.22|-2.24;-2.13	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.215520	.|0.23483	.|N	.|0.047681	D|D	0.83399|0.83399	0.5246|0.5246	L|L	0.32530|0.32530	0.975|0.975	0.39248|0.39248	D|D	0.963978|0.963978	D|P	0.64830|0.38597	0.994|0.639	P|B	0.53185|0.37198	0.72|0.243	D|D	0.85634|0.85634	0.1272|0.1272	9|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|143	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	K|E	88|143;102	ENSP00000307101:E88K;ENSP00000394932:E88K|ENSP00000355153:G143E;ENSP00000432664:G102E	ENSP00000307101:E88K|ENSP00000355153:G143E	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CDKN2A	-	NULL		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	C	NM_000077		21971096	-1	no_errors	ENST00000361570	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21971096	C	T	21971096	3	4	101	1	0	0	0	0	1	0	0	0	3166	864	30	1	216	1	CDKN2A	9	21971096	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	21257999	21971096	119242335	167	14798										
TAF1L	138474	genome.wustl.edu	37	chr9	32633525	32633525	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgtgagatcctgaggtgtgcGcataaaaaacaactctccac	9	10	1	2	rs147409173		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:32633525G>C	ENST00000242310.4	-	1	2142	c.2053C>G	c.(2053-2055)Cgc>Ggc	p.R685G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R685C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448																																																	1	Substitution - Missense(1)	lung(1)											180	164	169					9																	32633525		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2053C>G	9.37:g.32633525G>C	ENSP00000418379:p.Arg685Gly		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R685G	ENST00000242310.4	37	c.2053	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621018	0.66787	.	.	ENSG00000122728	ENST00000242310	T	0.10005	2.92	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	M	0.83603	2.65	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.03706	-1.1011	10	0.72032	D	0.01	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	685	Q8IZX4	TAF1L_HUMAN	G	685	ENSP00000418379:R685G	ENSP00000418379:R685G	R	-	1	0	TAF1L	32623525	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.377000	0.52425	0.632000	0.30432	0.195000	0.17529	CGC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32633525	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32633525	G	C	32633525	3	2	101	1	0	0	0	0	1	0	0	0	15553	1087	38	2	3431	2	TAF1L	9	32633525	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	10662429	32633525	108579906	168	14799										
PGM5	5239	genome.wustl.edu	37	chr9	71002420	71002420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	atatctatcttaacctccttCggaccatctttgactttcat	3	12	4	1	rs138311393		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:71002420C>T	ENST00000396396.1	+	4	842	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.R205W	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	205					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TAACCTCCTTCGGACCATCTT	0.428																																																	0								C	TRP/ARG	3,4403		0,3,2200	139	134	136		613	4.3	0.7	9	dbSNP_134	136	1,8597		0,1,4298	no	missense	PGM5	NM_021965.3	101	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	205/568	71002420	4,13000	2203	4299	6502	SO:0001583	missense	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.613C>T	9.37:g.71002420C>T	ENSP00000379678:p.Arg205Trp		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R205W	ENST00000396396.1	37	c.613	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970371	0.34754	6.81E-4	1.16E-4	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.64260	-0.09;-0.09;-0.09	5.16	4.27	0.50696	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	U	0.000000	T	0.78130	0.4235	M	0.85462	2.755	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.79354	-0.1838	10	0.87932	D	0	.	7.8195	0.29280	0.1602:0.7562:0.0:0.0836	.	205	Q15124	PGM5_HUMAN	W	205;205;156;122	ENSP00000379678:R205W;ENSP00000379674:R205W;ENSP00000394864:R122W	ENSP00000366531:R156W	R	+	1	2	PGM5	70192240	0.922000	0.31269	0.715000	0.30552	0.088000	0.18126	1.216000	0.32443	1.176000	0.42840	-0.261000	0.10672	CGG	PGM5	-	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.428	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	C	NM_021965		71002420	1	no_errors	ENST00000396396	ensembl	human	known	70_37	missense	SNP	0.971	T	T	71002420	C	T	71002420	3	4	101	1	0	0	0	0	1	0	0	0	11825	875	31	1	627	1	PGM5	9	71002420	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	38368895	71002420	70211011	169	14800										
SPTLC1	10558	genome.wustl.edu	37	chr9	94877647	94877647	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acccactgctccgtggcggtCgccatagttagccgcttcct	10	16	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:94877647C>A	ENST00000262554.2	-	1	11	c.6G>T	c.(4-6)gcG>gcT	p.A2A	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.A2A	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	2					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCGTGGCGGTCGCCATAGTTA	0.667																																																	0													27	30	29					9																	94877647		2181	4267	6448	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.6G>T	9.37:g.94877647C>A			A8K681|Q5VWB4|Q96IX6	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A2	ENST00000262554.2	37	c.6	CCDS6692.1	9																																																																																			SPTLC1	-	NULL		0.667	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	C	NM_006415		94877647	-1	no_errors	ENST00000262554	ensembl	human	known	70_37	silent	SNP	0.992	A	A	94877647	C	A	94877647	2	1	101	1	0	0	0	0	0	0	0	1	15153	871	31	3		3	SPTLC1	9	94877647	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	23875227	94877647	46335784	170	14801										
CORO2A	7464	genome.wustl.edu	37	chr9	100897207	100897207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggccgtgaggttcctggtcaGcagctgcttggggatgctcc	16	11	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:100897207G>T	ENST00000343933.5	-	4	606	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	CORO2A_ENST00000375077.4_Missense_Mutation_p.L117M	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	117					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTCCTGGTCAGCAGCTGCTTG	0.632																																																	0													83	71	75					9																	100897207		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.349C>A	9.37:g.100897207G>T	ENSP00000343746:p.Leu117Met		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L117M	ENST00000343933.5	37	c.349	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691600	0.30052	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.08008	3.14;3.14	5.37	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146540	0.45867	D	0.000331	T	0.14399	0.0348	M	0.81942	2.565	0.43014	D	0.994556	B	0.32939	0.391	B	0.38985	0.287	T	0.01413	-1.1361	10	0.72032	D	0.01	-5.801	6.3224	0.21225	0.1549:0.0:0.6955:0.1496	.	117	Q92828	COR2A_HUMAN	M	117	ENSP00000343746:L117M;ENSP00000364218:L117M	ENSP00000343746:L117M	L	-	1	2	CORO2A	99937028	0.007000	0.16637	0.938000	0.37757	0.379000	0.30106	0.136000	0.15974	0.802000	0.34089	-0.188000	0.12872	CTG	CORO2A	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.632	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	G	NM_003389		100897207	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	missense	SNP	0.973	T	T	100897207	G	T	100897207	3	4	101	1	0	0	0	0	1	0	0	0	3761	962	34	4	1264	4	CORO2A	9	100897207	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	6019560	100897207	40316224	171	14802										
AKAP2	11217	genome.wustl.edu	37	chr9	112899896	112899896	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gattttggatcagttctcaaGatctgtcaatgtctccttga	8	8	5	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:112899896G>A	ENST00000259318.7	+	2	1586	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	AKAP2_ENST00000510514.5_Missense_Mutation_p.R691K|AKAP2_ENST00000555236.1_Missense_Mutation_p.R691K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R691K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R549K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R691K|AKAP2_ENST00000434623.2_Missense_Mutation_p.R549K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	460										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CAGTTCTCAAGATCTGTCAAT	0.502																																																	0													115	114	114					9																	112899896		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1379G>A	9.37:g.112899896G>A	ENSP00000259318:p.Arg460Lys		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.R691K	ENST00000259318.7	37	c.2072	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	4.786	0.146185	0.09134	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.45276	2.24;2.23;2.24;2.23;1.47;0.9;0.9;1.51	5.86	1.39	0.22231	.	0.432209	0.26514	N	0.023943	T	0.19005	0.0456	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.0;0.001;0.0;0.003;0.002;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.16289	0.001;0.006;0.001;0.015;0.007;0.001;0.001;0.0	T	0.25882	-1.0119	10	0.12430	T	0.62	-2.2545	9.5318	0.39198	0.498:0.0:0.502:0.0	.	460;549;543;549;550;691;691;509	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	691;691;691;691;549;549;509;460	ENSP00000363654:R691K;ENSP00000305861:R691K;ENSP00000451476:R691K;ENSP00000421522:R691K;ENSP00000404782:R549K;ENSP00000363649:R549K;ENSP00000419268:R509K;ENSP00000259318:R460K	ENSP00000259318:R460K	R	+	2	0	PALM2-AKAP2;AKAP2	111939717	0.732000	0.28121	0.317000	0.25265	0.618000	0.37518	0.978000	0.29488	-0.035000	0.13691	-0.940000	0.02684	AGA	PALM2-AKAP2	-	NULL		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112899896	1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.012	A	A	112899896	G	A	112899896	3	1	101	1	0	0	0	0	1	0	0	0	451	942	33	1	1652	1	AKAP2	9	112899896	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	12002689	112899896	28313535	172	14803										
MUSK	4593	genome.wustl.edu	37	chr9	113547810	113547810	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcctgtcttgcctgcagagaAtcagcagcagtaaccctcac	9	14	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:113547810A>C	ENST00000374448.4	+	13	1724	c.1590A>C	c.(1588-1590)gaA>gaC	p.E530D	MUSK_ENST00000374438.1_Missense_Mutation_p.E46D|MUSK_ENST00000416899.2_Missense_Mutation_p.E522D|MUSK_ENST00000189978.5_Missense_Mutation_p.E530D	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	530					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGCAGAGAATCAGCAGCAG	0.458																																																	0													203	197	199					9																	113547810		2015	4171	6186	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1590A>C	9.37:g.113547810A>C	ENSP00000363571:p.Glu530Asp		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E536D	ENST00000374448.4	37	c.1608	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771064	0.49680	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.81821	-0.81;-1.54	5.86	2.25	0.28309	.	0.170971	0.52532	D	0.000070	T	0.75642	0.3877	L	0.56769	1.78	0.80722	D	1	D	0.54397	0.966	P	0.45167	0.472	T	0.69687	-0.5078	10	0.34782	T	0.22	.	8.4224	0.32710	0.5744:0.0:0.4256:0.0	.	530	O15146	MUSK_HUMAN	D	536;530;530;444;444;46;528;46	ENSP00000363571:E530D;ENSP00000363561:E46D	ENSP00000189978:E536D	E	+	3	2	MUSK	112587631	0.926000	0.31397	0.998000	0.56505	0.977000	0.68977	0.024000	0.13555	0.143000	0.18926	0.533000	0.62120	GAA	MUSK	-	NULL		0.458	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		A			113547810	1	no_errors	ENST00000189978	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113547810	A	C	113547810	3	2	101	1	0	0	0	0	1	0	0	0	10012	98	4	5	1672	5	MUSK	9	113547810	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	647914	113547810	27665621	173	14804										
TTLL11	158135	genome.wustl.edu	37	chr9	124736340	124736340	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaggcgcagagtgtctctgaTcacagccactttcacttctt	9	12	4	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:124736340T>A	ENST00000321582.5	-	6	1886	c.1699A>T	c.(1699-1701)Atc>Ttc	p.I567F	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GTGTCTCTGATCACAGCCACT	0.448																																																	0													134	116	121					9																	124736340		692	1591	2283	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.1699A>T	9.37:g.124736340T>A	ENSP00000321346:p.Ile567Phe			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.I567F	ENST00000321582.5	37	c.1699	CCDS48012.1	9	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633310	0.87660	.	.	ENSG00000175764	ENST00000321582;ENST00000373778	T	0.06528	3.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.30978	0.0782	M	0.90542	3.125	0.53688	D	0.999971	D	0.76494	0.999	D	0.69479	0.964	T	0.21381	-1.0247	9	0.87932	D	0	.	14.7948	0.69870	0.0:0.0:0.0:1.0	.	567	F8W6M1	.	F	567;218	ENSP00000321346:I567F	ENSP00000321346:I567F	I	-	1	0	TTLL11	123776161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.268000	0.78473	2.167000	0.68274	0.528000	0.53228	ATC	TTLL11	-	NULL		0.448	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		T	XM_088486		124736340	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124736340	T	A	124736340	3	1	101	1	0	0	0	0	1	0	0	0	16755	1435	50	5	719	5	TTLL11	9	124736340	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	11188530	124736340	16477091	174	14805										
GOLGA1	2800	genome.wustl.edu	37	chr9	127674285	127674285	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgtgtgataacgtcttctttCtcttgagtttcagcagtgac	9	8	4	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:127674285C>G	ENST00000373555.4	-	11	1197	c.864G>C	c.(862-864)gaG>gaC	p.E288D		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	288					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CGTCTTCTTTCTCTTGAGTTT	0.438																																																	0													187	169	175					9																	127674285		2203	4300	6503	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.864G>C	9.37:g.127674285C>G	ENSP00000362656:p.Glu288Asp		Q5T164|Q8IYZ9	Missense_Mutation	SNP	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.E288D	ENST00000373555.4	37	c.864	CCDS6860.1	9	.	.	.	.	.	.	.	.	.	.	C	8.564	0.878482	0.17395	.	.	ENSG00000136935	ENST00000373555	T	0.78364	-1.17	5.84	0.285	0.15705	.	0.000000	0.44688	U	0.000439	T	0.69753	0.3146	M	0.77103	2.36	0.43275	D	0.99523	B;B	0.14805	0.011;0.007	B;B	0.16722	0.016;0.007	T	0.54788	-0.8241	10	0.28530	T	0.3	-6.4243	2.4415	0.04496	0.1326:0.5159:0.1473:0.2041	.	187;288	Q59HA1;Q92805	.;GOGA1_HUMAN	D	288	ENSP00000362656:E288D	ENSP00000362656:E288D	E	-	3	2	GOLGA1	126714106	1.000000	0.71417	0.683000	0.30040	0.255000	0.26057	0.439000	0.21575	-0.218000	0.10018	-0.195000	0.12781	GAG	GOLGA1	-	superfamily_Prefoldin		0.438	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	C	NM_002077		127674285	-1	no_errors	ENST00000373555	ensembl	human	known	70_37	missense	SNP	0.976	G	G	127674285	C	G	127674285	3	3	101	1	0	0	0	0	1	0	0	0	6570	912	32	1	1491	1	GOLGA1	9	127674285	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2937945	127674285	13539146	175	14806										
FAM125B	89853	genome.wustl.edu	37	chr9	129157918	129157918	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caagaaatcatgactcatctCaacccacaacgccttcccag	4	16	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:129157918C>G	ENST00000361171.3	+	6	685	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	MVB12B_ENST00000436593.3_Missense_Mutation_p.Q187E|MVB12B_ENST00000535766.1_Missense_Mutation_p.Q195E|MVB12B_ENST00000545391.1_Missense_Mutation_p.Q202E	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	202					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.Q202*(1)									TGACTCATCTCAACCCACAAC	0.522																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											196	170	179					9																	129157918		2203	4300	6503	SO:0001583	missense	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.604C>G	9.37:g.129157918C>G	ENSP00000354772:p.Gln202Glu		Q8N6S7	Missense_Mutation	SNP	pfam_FAM125	p.Q202E	ENST00000361171.3	37	c.604	CCDS35142.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416091	0.42817	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.69	5.69	0.88448	.	0.364025	0.31922	N	0.006844	T	0.42653	0.1212	M	0.66939	2.045	0.31836	N	0.624071	B;B;B;B	0.18461	0.028;0.001;0.028;0.002	B;B;B;B	0.20767	0.031;0.002;0.031;0.003	T	0.45702	-0.9243	10	0.19590	T	0.45	-0.6583	15.3042	0.73979	0.0:0.8606:0.1394:0.0	.	195;187;71;202	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	E	202;202;187;187;195	ENSP00000354772:Q202E;ENSP00000441988:Q202E;ENSP00000384751:Q187E;ENSP00000401379:Q187E;ENSP00000442846:Q195E	ENSP00000354772:Q202E	Q	+	1	0	FAM125B	128197739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.222000	0.58580	2.676000	0.91093	0.655000	0.94253	CAA	FAM125B	-	pfam_FAM125		0.522	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM125B	HGNC	protein_coding	OTTHUMT00000054110.1	C	XM_088525		129157918	1	no_errors	ENST00000361171	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129157918	C	G	129157918	3	3	101	1	0	0	0	0	1	0	0	0	5443	827	29	1	626	1	FAM125B	9	129157918	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1483633	129157918	12055513	176	14807										
LRSAM1	90678	genome.wustl.edu	37	chr9	130263375	130263375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggccatccgctccccctgcaGagctggaggtgcaggcctca	13	16	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:130263375G>A	ENST00000323301.4	+	24	2603	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E667K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E667K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E640K|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	667					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TCCCCCTGCAGAGCTGGAGGT	0.672																																																	0													55	53	54					9																	130263375		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1999G>A	9.37:g.130263375G>A	ENSP00000322937:p.Glu667Lys		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E667K	ENST00000323301.4	37	c.1999	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182242	0.57800	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.11	4.19	0.49359	Zinc finger, RING/FYVE/PHD-type (1);	0.224065	0.39083	N	0.001478	T	0.45736	0.1357	N	0.08118	0	0.33639	D	0.607016	P;P	0.41978	0.767;0.657	B;B	0.38264	0.269;0.138	T	0.64914	-0.6295	10	0.66056	D	0.02	-23.7912	12.8121	0.57645	0.0:0.2074:0.7926:0.0	.	640;667	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	667;640;667;667	ENSP00000300417:E667K;ENSP00000362421:E640K;ENSP00000322937:E667K;ENSP00000362419:E667K	ENSP00000300417:E667K	E	+	1	0	LRSAM1	129303196	0.930000	0.31532	0.905000	0.35620	0.938000	0.57974	1.377000	0.34317	2.379000	0.81126	0.462000	0.41574	GAG	LRSAM1	-	NULL		0.672	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130263375	1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.799	A	A	130263375	G	A	130263375	3	1	101	1	0	0	0	0	1	0	0	0	9066	943	33	1	2089	1	LRSAM1	9	130263375	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1105457	130263375	10950056	177	14808										
NUP188	23511	genome.wustl.edu	37	chr9	131765678	131765678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gggttttattctgcagctctCtaacttcatgaaggagtggc	11	8	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:131765678C>T	ENST00000372577.2	+	38	4400	c.4379C>T	c.(4378-4380)tCt>tTt	p.S1460F	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1460					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGCAGCTCTCTAACTTCATG	0.567																																																	0													127	119	122					9																	131765678		2203	4300	6503	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4379C>T	9.37:g.131765678C>T	ENSP00000361658:p.Ser1460Phe		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.S1460F	ENST00000372577.2	37	c.4379	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802353	0.90538	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.78314	0.862;0.991	T	0.59979	-0.7352	10	0.59425	D	0.04	-14.0018	19.0419	0.93004	0.0:1.0:0.0:0.0	.	793;1460	E9PET9;Q5SRE5	.;NU188_HUMAN	F	1349;1460	ENSP00000361658:S1460F	ENSP00000349125:S1349F	S	+	2	0	NUP188	130805499	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.487000	0.81328	2.758000	0.94735	0.561000	0.74099	TCT	NUP188	-	NULL		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131765678	1	no_errors	ENST00000372577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131765678	C	T	131765678	3	4	101	1	0	0	0	0	1	0	0	0	10782	913	32	1	4529	1	NUP188	9	131765678	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1502303	131765678	9447753	178	14809										
USP20	10868	genome.wustl.edu	37	chr9	132627642	132627642	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aagttggtcaacccaatgttCcgaggctatgcccagcaggt	11	11	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:132627642C>G	ENST00000315480.4	+	10	830	c.672C>G	c.(670-672)ttC>ttG	p.F224L	USP20_ENST00000372429.3_Missense_Mutation_p.F224L|USP20_ENST00000358355.1_Missense_Mutation_p.F224L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	224	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCCAATGTTCCGAGGCTATG	0.567																																																	0													99	99	99					9																	132627642		2063	4207	6270	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.672C>G	9.37:g.132627642C>G	ENSP00000313811:p.Phe224Leu		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.F224L	ENST00000315480.4	37	c.672	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359554	0.82353	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.35236	1.32;1.32;1.32	5.67	3.83	0.44106	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.49571	1.57	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.51818	-0.8657	10	0.87932	D	0	.	11.6882	0.51499	0.0:0.8569:0.0:0.1431	.	224	Q9Y2K6	UBP20_HUMAN	L	224	ENSP00000361506:F224L;ENSP00000313811:F224L;ENSP00000351122:F224L	ENSP00000313811:F224L	F	+	3	2	USP20	131667463	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.560000	0.45896	0.750000	0.32877	-0.291000	0.09656	TTC	USP20	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.567	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132627642	1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	1.000	G	G	132627642	C	G	132627642	3	3	101	1	0	0	0	0	1	0	0	0	17083	854	30	1	702	1	USP20	9	132627642	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	861964	132627642	8585789	179	14810										
USP20	10868	genome.wustl.edu	37	chr9	132640638	132640638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgaacaaggccttccaggccGaggagtcgccgggcgtcatc	14	13	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:132640638G>A	ENST00000315480.4	+	23	2589	c.2431G>A	c.(2431-2433)Gag>Aag	p.E811K	USP20_ENST00000372429.3_Missense_Mutation_p.E811K|USP20_ENST00000358355.1_Missense_Mutation_p.E811K			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	811	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTTCCAGGCCGAGGAGTCGCC	0.607																																																	0													28	31	30					9																	132640638		1994	4151	6145	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2431G>A	9.37:g.132640638G>A	ENSP00000313811:p.Glu811Lys		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.E811K	ENST00000315480.4	37	c.2431	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.680121	0.96774	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.18338	2.22;2.22;2.22	5.25	5.25	0.73442	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.06215	-1.0839	10	0.46703	T	0.11	.	18.2063	0.89855	0.0:0.0:1.0:0.0	.	811	Q9Y2K6	UBP20_HUMAN	K	811	ENSP00000361506:E811K;ENSP00000313811:E811K;ENSP00000351122:E811K	ENSP00000313811:E811K	E	+	1	0	USP20	131680459	1.000000	0.71417	0.975000	0.42487	0.841000	0.47740	9.289000	0.96061	2.630000	0.89119	0.561000	0.74099	GAG	USP20	-	smart_Pept_C19_DUSP		0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	G			132640638	1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132640638	G	A	132640638	3	1	101	1	0	0	0	0	1	0	0	0	17083	1059	37	1	2513	1	USP20	9	132640638	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	12996	132640638	8572793	180	14811										
NTNG2	84628	genome.wustl.edu	37	chr9	135073664	135073664	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaggactgcatggaggccttCggtatgtccgcccgccgggc	16	13	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:135073664C>T	ENST00000393229.3	+	3	1301	c.525C>T	c.(523-525)ttC>ttT	p.F175F	NTNG2_ENST00000372179.3_Silent_p.F175F|NTNG2_ENST00000393228.4_Silent_p.F175F|NTNG2_ENST00000360670.3_Silent_p.F175F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	175	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGGAGGCCTTCGGTATGTCCG	0.672																																																	0													31	25	27					9																	135073664		2199	4295	6494	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.525C>T	9.37:g.135073664C>T			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.F175	ENST00000393229.3	37	c.525	CCDS6946.1	9																																																																																			NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	C	NM_032536		135073664	1	no_errors	ENST00000360670	ensembl	human	known	70_37	silent	SNP	1.000	T	T	135073664	C	T	135073664	2	4	101	1	0	0	0	0	0	0	0	1	10729	883	31	1		1	NTNG2	9	135073664	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2433026	135073664	6139767	181	14812										
ADAMTS13	11093	genome.wustl.edu	37	chr9	136308556	136308556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgggggcggcctgcgggagcGgccagtgcgctgcgtggagg	23	10	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:136308556G>A	ENST00000371929.3	+	19	2738	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R734Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R765Q|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	765	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGCGGGAGCGGCCAGTGCGC	0.721																																																	0													9	10	10					9																	136308556		2165	4251	6416	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2294G>A	9.37:g.136308556G>A	ENSP00000360997:p.Arg765Gln		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R765Q	ENST00000371929.3	37	c.2294	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004843	0.54254	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.80738	-1.41;-1.15;-1.15	4.74	2.9	0.33743	.	.	.	.	.	D	0.88514	0.6457	M	0.91510	3.215	0.19945	N	0.999945	D;D;D	0.76494	0.988;0.999;0.999	P;P;P	0.62885	0.716;0.888;0.908	T	0.77822	-0.2445	9	0.56958	D	0.05	.	4.3164	0.10995	0.1927:0.0:0.6278:0.1795	.	765;734;765	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	765;765;734	ENSP00000360997:R765Q;ENSP00000347927:R765Q;ENSP00000348997:R734Q	ENSP00000347927:R765Q	R	+	2	0	ADAMTS13	135298377	0.009000	0.17119	0.002000	0.10522	0.556000	0.35491	1.017000	0.29989	0.448000	0.26722	0.455000	0.32223	CGG	ADAMTS13	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.721	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	G	NM_139025		136308556	1	no_errors	ENST00000371929	ensembl	human	known	70_37	missense	SNP	0.008	A	A	136308556	G	A	136308556	3	1	101	1	0	0	0	0	1	0	0	0	258	1116	39	2	2368	2	ADAMTS13	9	136308556	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1234892	136308556	4904875	182	14813										
LHX3	8022	genome.wustl.edu	37	chr9	139096823	139096823	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acggcggcggccccgggcctCgctcggtcgcgctcgagccc	16	19	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139096823C>T	ENST00000371748.5	-	1	132	c.36G>A	c.(34-36)gcG>gcA	p.A12A	LHX3_ENST00000371746.3_5'Flank	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	12					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCCCGGGCCTCGCTCGGTCGC	0.721																																																	0													9	10	10					9																	139096823		2148	4199	6347	SO:0001819	synonymous_variant	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.36G>A	9.37:g.139096823C>T			Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.A12	ENST00000371748.5	37	c.36	CCDS6994.1	9																																																																																			LHX3	-	NULL		0.721	LHX3-001	KNOWN	basic|CCDS	protein_coding	LHX3	HGNC	protein_coding	OTTHUMT00000055048.3	C			139096823	-1	no_errors	ENST00000371748	ensembl	human	known	70_37	silent	SNP	0.236	T	T	139096823	C	T	139096823	2	4	101	1	0	0	0	0	0	0	0	1	8792	871	31	1		1	LHX3	9	139096823	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2788267	139096823	2116608	183	14814										
SNAPC4	6621	genome.wustl.edu	37	chr9	139283032	139283032	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttctgcaggcactggaaggcGctgcggctggtcttcccagg	15	12	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139283032G>C	ENST00000298532.2	-	10	1355	c.987C>G	c.(985-987)agC>agG	p.S329R		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACTGGAAGGCGCTGCGGCTGG	0.597																																																	0													102	88	93					9																	139283032		2203	4300	6503	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.987C>G	9.37:g.139283032G>C	ENSP00000298532:p.Ser329Arg			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S329R	ENST00000298532.2	37	c.987	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672738	0.47781	.	.	ENSG00000165684	ENST00000298532	T	0.29655	1.56	5.0	-5.04	0.02964	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.047437	0.85682	D	0.000000	T	0.43433	0.1247	M	0.83953	2.67	0.34838	D	0.740369	D	0.54601	0.967	P	0.56514	0.8	T	0.56263	-0.8008	10	0.87932	D	0	-20.6893	9.4222	0.38559	0.5774:0.0:0.3232:0.0995	.	329	Q5SXM2	SNPC4_HUMAN	R	329	ENSP00000298532:S329R	ENSP00000298532:S329R	S	-	3	2	SNAPC4	138402853	0.001000	0.12720	0.937000	0.37676	0.526000	0.34562	-1.849000	0.01672	-0.984000	0.03507	-0.258000	0.10820	AGC	SNAPC4	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.597	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139283032	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	missense	SNP	0.380	C	C	139283032	G	C	139283032	3	2	101	1	0	0	0	0	1	0	0	0	14867	1078	38	2	3474	2	SNAPC4	9	139283032	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	186209	139283032	1930399	184	14815										
SDCCAG3	10807	genome.wustl.edu	37	chr9	139298550	139298550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	catgaccacccggaggttctGcagggccacgtcggcgttct	13	14	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139298550G>A	ENST00000357365.3	-	9	1294	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	SDCCAG3_ENST00000371725.3_Nonsense_Mutation_p.Q316*|SDCCAG3_ENST00000298537.7_Nonsense_Mutation_p.Q366*|SDCCAG3_ENST00000461693.1_5'UTR	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	389						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CGGAGGTTCTGCAGGGCCACG	0.642																																																	0													91	98	96					9																	139298550		2000	4161	6161	SO:0001587	stop_gained	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.1165C>T	9.37:g.139298550G>A	ENSP00000349929:p.Gln389*		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Nonsense_Mutation	SNP	NULL	p.Q389*	ENST00000357365.3	37	c.1165	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247620	0.39697	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725	.	.	.	4.66	4.66	0.58398	.	0.138466	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-8.2294	12.7736	0.57436	0.0:0.1649:0.8351:0.0	.	.	.	.	X	389;366;316	.	ENSP00000298537:Q366X	Q	-	1	0	SDCCAG3	138418371	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	3.155000	0.50700	2.281000	0.76405	0.655000	0.94253	CAG	SDCCAG3	-	NULL		0.642	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	G	NM_006643		139298550	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	139298550	G	A	139298550	4	1	101	1	0	0	0	0	0	1	0	0	13988	1328	46	4	150	4	SDCCAG3	9	139298550	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	15518	139298550	1914881	185	14816										
SDCCAG3	10807	genome.wustl.edu	37	chr9	139302363	139302363	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctctaaaagagaatggatttGcctcttccagatcttcaaat	6	9	4	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139302363G>C	ENST00000357365.3	-	4	446	c.317C>G	c.(316-318)gCa>gGa	p.A106G	PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.A33G|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.A83G|SDCCAG3_ENST00000461693.1_5'Flank|PMPCA_ENST00000371717.3_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	106						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GAATGGATTTGCCTCTTCCAG	0.438																																																	0													88	90	90					9																	139302363		1870	4106	5976	SO:0001583	missense	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.317C>G	9.37:g.139302363G>C	ENSP00000349929:p.Ala106Gly		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.A106G	ENST00000357365.3	37	c.317	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071320	0.55646	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723;ENST00000446833	T;T;T;T	0.39229	2.31;2.37;2.35;1.09	5.34	4.44	0.53790	.	0.329688	0.31821	N	0.007003	T	0.52805	0.1757	M	0.63843	1.955	0.36829	D	0.886789	D;D;D	0.61697	0.99;0.981;0.981	P;P;P	0.55577	0.779;0.705;0.705	T	0.62487	-0.6844	10	0.54805	T	0.06	-14.338	11.5675	0.50813	0.0871:0.0:0.9129:0.0	.	33;83;106	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	G	106;83;33;56;97	ENSP00000349929:A106G;ENSP00000298537:A83G;ENSP00000360790:A33G;ENSP00000360788:A56G	ENSP00000298537:A83G	A	-	2	0	SDCCAG3	138422184	0.966000	0.33281	0.879000	0.34478	0.986000	0.74619	3.827000	0.55745	1.241000	0.43820	0.650000	0.86243	GCA	SDCCAG3	-	NULL		0.438	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	G	NM_006643		139302363	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	missense	SNP	0.999	C	C	139302363	G	C	139302363	3	2	101	1	0	0	0	0	1	0	0	0	13988	1319	46	4	1018	4	SDCCAG3	9	139302363	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3813	139302363	1911068	186	14817										
EPC1	80314	genome.wustl.edu	37	chr10	32561068	32561068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcagcaaactgtgcactagCagaatccaaagtcttagaaa	8	9	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:32561068C>T	ENST00000263062.8	-	13	2229	c.1960G>A	c.(1960-1962)Gct>Act	p.A654T	EPC1_ENST00000319778.6_Missense_Mutation_p.A631T|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Missense_Mutation_p.A581T	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	654					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGTGCACTAGCAGAATCCAAA	0.378																																																	0													60	54	56					10																	32561068		2203	4300	6503	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1960G>A	10.37:g.32561068C>T	ENSP00000263062:p.Ala654Thr		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.A654T	ENST00000263062.8	37	c.1960	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915828	0.73098	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T	0.18657	2.2;2.2	5.78	4.88	0.63580	.	0.105600	0.64402	D	0.000002	T	0.26774	0.0655	L	0.54323	1.7	0.40123	D	0.976626	B;P;B	0.46327	0.357;0.876;0.0	B;B;B	0.43754	0.314;0.43;0.004	T	0.08006	-1.0743	10	0.87932	D	0	-6.607	15.0864	0.72158	0.0:0.9318:0.0:0.0682	.	581;631;654	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	T	581;631;654	ENSP00000364251:A581T;ENSP00000318559:A631T	ENSP00000263062:A654T	A	-	1	0	EPC1	32601074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.485000	0.81204	1.461000	0.47929	0.460000	0.39030	GCT	EPC1	-	pfam_Enhancer_polycomb_C		0.378	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	C			32561068	-1	no_errors	ENST00000263062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32561068	C	T	32561068	3	4	101	1	0	0	0	0	1	0	0	0	5172	710	25	4	562	4	EPC1	10	32561068	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		32561068	102973679	187	14818										
DLG5	9231	genome.wustl.edu	37	chr10	79613995	79613995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cctcactcactggtagaagtCagtctccttggccacctcct	7	16	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:79613995C>T	ENST00000372391.2	-	4	675	c.670G>A	c.(670-672)Gac>Aac	p.D224N	DLG5_ENST00000372388.2_Missense_Mutation_p.D224N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	224					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGTAGAAGTCAGTCTCCTTG	0.582																																																	0													94	68	76					10																	79613995		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.670G>A	10.37:g.79613995C>T	ENSP00000361467:p.Asp224Asn		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D224N	ENST00000372391.2	37	c.670	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	34	5.323345	0.95708	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04406	3.63;3.67	5.55	5.55	0.83447	.	0.000000	0.39146	N	0.001453	T	0.22859	0.0552	M	0.70595	2.14	0.49687	D	0.999819	D	0.89917	1.0	D	0.83275	0.996	T	0.00089	-1.2088	10	0.59425	D	0.04	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	224	Q8TDM6	DLG5_HUMAN	N	224	ENSP00000361467:D224N;ENSP00000361464:D224N	ENSP00000361464:D224N	D	-	1	0	DLG5	79284001	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	7.487000	0.81328	2.612000	0.88384	0.655000	0.94253	GAC	DLG5	-	NULL		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79613995	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79613995	C	T	79613995	3	4	101	1	0	0	0	0	1	0	0	0	4568	826	29	1	5205	1	DLG5	10	79613995	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	47052927	79613995	55920752	188	14819										
PTEN	5728	genome.wustl.edu	37	chr10	89725043	89725043	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttttaaattttctttctctaGgtgaagctgtacttcacaaa	5	7	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:89725043G>T	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTCTCTAGGTGAAGCTGT	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(7)|Deletion - In frame(1)	prostate(16)|central_nervous_system(12)|skin(5)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											42	39	40					10																	89725043		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1G>T	10.37:g.89725043G>T			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e9-1	ENST00000371953.3	37	c.1027-1	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972931	0.53614	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4116	0.94675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.426000	0.97469	2.652000	0.90054	0.586000	0.80456	.	PTEN	-	-		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314	Intron	89725043	1	no_errors	ENST00000371953	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	89725043	G	T	89725043	5	4	101	1	0	0	0	0	0	0	1	0	12765	1014	35	4	1060	4	PTEN	10	89725043	Splice_Site	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	10111048	89725043	45809704	189	14820										
KIF11	3832	genome.wustl.edu	37	chr10	94397237	94397237	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ataccatttgttccttggttGagtcacaaaagcaatgtgga	9	7	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:94397237G>A	ENST00000260731.3	+	16	2185	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	699					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTTGGTTGAGTCACAAAA	0.383																																					Colon(47;212 1003 2764 4062 8431)												0													80	79	79					10																	94397237		2203	4300	6503	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2095G>A	10.37:g.94397237G>A	ENSP00000260731:p.Glu699Lys		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E699K	ENST00000260731.3	37	c.2095	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169996	0.57584	.	.	ENSG00000138160	ENST00000260731	T	0.66460	-0.21	5.2	5.2	0.72013	.	0.520482	0.20906	N	0.083549	T	0.51686	0.1689	L	0.29908	0.895	0.37316	D	0.909349	B	0.32781	0.384	B	0.28305	0.088	T	0.54050	-0.8351	10	0.15952	T	0.53	.	14.5875	0.68339	0.0:0.0:1.0:0.0	.	699	P52732	KIF11_HUMAN	K	699	ENSP00000260731:E699K	ENSP00000260731:E699K	E	+	1	0	KIF11	94387217	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	2.366000	0.44204	2.586000	0.87340	0.655000	0.94253	GAG	KIF11	-	NULL		0.383	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523		94397237	1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94397237	G	A	94397237	3	1	101	1	0	0	0	0	1	0	0	0	8292	1291	45	1	2157	1	KIF11	10	94397237	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4672194	94397237	41137510	190	14821										
PSD	5662	genome.wustl.edu	37	chr10	104170686	104170686	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cccgatgaagtccccgcaggTcatgcgcttcccgatgttct	10	15	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:104170686T>A	ENST00000020673.5	-	10	2546	c.2020A>T	c.(2020-2022)Acc>Tcc	p.T674S	PSD_ENST00000406432.1_Missense_Mutation_p.T674S	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	674	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCCCGCAGGTCATGCGCTTC	0.622																																																	0													69	71	70					10																	104170686		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2020A>T	10.37:g.104170686T>A	ENSP00000020673:p.Thr674Ser		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.T674S	ENST00000020673.5	37	c.2020	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247227	0.22796	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.50001	0.76;0.76	4.7	4.7	0.59300	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.197872	0.44097	D	0.000490	T	0.21227	0.0511	N	0.04787	-0.16	0.40834	D	0.98361	B	0.06786	0.001	B	0.14578	0.011	T	0.15150	-1.0447	10	0.02654	T	1	.	9.2772	0.37707	0.2024:0.0:0.0:0.7976	.	674	A5PKW4	PSD1_HUMAN	S	674;577;674	ENSP00000020673:T674S;ENSP00000384830:T674S	ENSP00000020673:T674S	T	-	1	0	PSD	104160676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	1.977000	0.57605	0.443000	0.29094	ACC	PSD	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	T			104170686	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104170686	T	A	104170686	3	1	101	1	0	0	0	0	1	0	0	0	12673	1667	58	5	1086	5	PSD	10	104170686	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	9773449	104170686	31364061	191	14822										
PPP2R2D	55844	genome.wustl.edu	37	chr10	133757483	133757483	+	5'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	catttttaggtcccaatattGaagcccatggatcttatggt	8	8	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:133757483G>C	ENST00000422256.2	+	0	293				PPP2R2D_ENST00000470416.1_Intron			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TCCCAATATTGAAGCCCATGG	0.353																																																	0													116	97	103					10																	133757483		1862	4090	5952	SO:0001623	5_prime_UTR_variant	55844			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.-193G>C	10.37:g.133757483G>C			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L132F	ENST00000422256.2	37	c.396		10	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781276	0.31502	.	.	ENSG00000175470	ENST00000455566	T	0.34859	1.34	3.89	3.89	0.44902	WD40 repeat-like-containing domain (1);	0.072326	0.56097	D	0.000024	T	0.28764	0.0713	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.15052	0.012	T	0.09618	-1.0666	9	0.44086	T	0.13	-14.3444	12.3837	0.55322	0.0:0.1696:0.8304:0.0	.	163	Q66LE6	2ABD_HUMAN	F	132	ENSP00000399970:L132F	ENSP00000399970:L132F	L	+	3	2	PPP2R2D	133607473	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.542000	0.45744	2.198000	0.70561	0.655000	0.94253	TTG	PPP2R2D	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.353	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		G	NM_018461		133757483	1	no_errors	ENST00000455566	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133757483	G	C	133757483	1	2	101	0	1	0	0	0	0	0	0	0	12414	1281	45	1		1	PPP2R2D	10	133757483	5'UTR	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	29586797	133757483	1777264	192	14823										
OR51I1	390063	genome.wustl.edu	37	chr11	5462187	5462187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctccacatgctactttcatGagatctggatggagacagta	9	9	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:5462187G>A	ENST00000380211.1	-	1	557	c.558C>T	c.(556-558)ctC>ctT	p.L186L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	186					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACTTTCATGAGATCTGGAT	0.433																																																	0													78	75	76					11																	5462187		2201	4297	6498	SO:0001819	synonymous_variant	390063			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.558C>T	11.37:g.5462187G>A			B9EKW2|Q6IF33	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L186	ENST00000380211.1	37	c.558	CCDS31382.1	11																																																																																			OR51I1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	G	NM_001005288		5462187	-1	no_errors	ENST00000380211	ensembl	human	known	70_37	silent	SNP	0.974	A	A	5462187	G	A	5462187	2	1	101	1	0	0	0	0	0	0	0	1	11124	1277	45	1		1	OR51I1	11	5462187	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09		5462187	129544329	193	14824										
ZNF143	7702	genome.wustl.edu	37	chr11	9516301	9516301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaaaattatatacaacagctCatcatctcaaggtatatata	4	7	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:9516301C>T	ENST00000396602.2	+	8	873	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	ZNF143_ENST00000396597.3_Missense_Mutation_p.H221Y|ZNF143_ENST00000396604.1_Missense_Mutation_p.H251Y|ZNF143_ENST00000530463.1_Missense_Mutation_p.H251Y|ZNF143_ENST00000299606.2_Missense_Mutation_p.H224Y	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	252					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TACAACAGCTCATCATCTCAA	0.323																																																	0													77	77	77					11																	9516301		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.754C>T	11.37:g.9516301C>T	ENSP00000379847:p.His252Tyr		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H252Y	ENST00000396602.2	37	c.754	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264245	0.59431	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.18718	0.0449	L	0.59436	1.845	0.80722	D	1	B;B;B	0.28291	0.206;0.131;0.131	B;B;B	0.28011	0.085;0.027;0.027	T	0.04885	-1.0920	10	0.19147	T	0.46	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	221;251;252	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	Y	251;252;251;221;224	ENSP00000379849:H251Y;ENSP00000379847:H252Y;ENSP00000432154:H251Y;ENSP00000379843:H221Y;ENSP00000299606:H224Y	ENSP00000299606:H224Y	H	+	1	0	ZNF143	9472877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.489000	0.81451	2.882000	0.98803	0.655000	0.94253	CAT	ZNF143	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.323	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	C	NM_003442		9516301	1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9516301	C	T	9516301	3	4	101	1	0	0	0	0	1	0	0	0	17762	826	29	1	780	1	ZNF143	11	9516301	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	4054114	9516301	125490215	194	14825										
SPRYD5	84767	genome.wustl.edu	37	chr11	55658629	55658629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttgattttactctgcagcctGaaagagccaatagtcatatc	7	9	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:55658629G>A	ENST00000449290.2	+	7	972	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E151K	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCTGCAGCCTGAAAGAGCCAA	0.338																																																	0													56	61	59					11																	55658629		2044	3892	5936	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.880G>A	11.37:g.55658629G>A	ENSP00000395086:p.Glu294Lys		A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E294K	ENST00000449290.2	37	c.880		11	.	.	.	.	.	.	.	.	.	.	.	13.11	2.139363	0.37728	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.11604	2.76;2.76	0.892	0.892	0.19230	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.10551	0.0258	L	0.58428	1.81	0.25242	N	0.989741	B	0.30542	0.284	B	0.29176	0.099	T	0.25502	-1.0130	9	0.41790	T	0.15	.	5.4053	0.16318	0.0:0.0:1.0:0.0	.	294	Q9BSJ1	SPRY5_HUMAN	K	294;151	ENSP00000395086:E294K;ENSP00000244891:E151K	ENSP00000244891:E151K	E	+	1	0	SPRYD5	55415205	0.998000	0.40836	0.366000	0.25914	0.404000	0.30871	1.256000	0.32921	0.159000	0.19401	0.162000	0.16502	GAA	TRIM51	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.338	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	G	NM_032681		55658629	1	no_errors	ENST00000449290	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55658629	G	A	55658629	3	1	101	1	0	0	0	0	1	0	0	0	15141	1291	45	1	902	1	SPRYD5	11	55658629	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	46142328	55658629	79347887	195	14826										
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57070031	57070031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctgatcgctccacctggctgCtgaagagccccaggtgccat	11	15	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:57070031C>A	ENST00000532437.1	-	6	4896	c.4585G>T	c.(4585-4587)Gca>Tca	p.A1529S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1529S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1529	Acidic.|Tankyrase-binding.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CACCTGGCTGCTGAAGAGCCC	0.647																																																	0													31	33	33					11																	57070031		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4585G>T	11.37:g.57070031C>A	ENSP00000437271:p.Ala1529Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.A1529S	ENST00000532437.1	37	c.4585	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545618	0.27652	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.31247	1.5;1.5	4.68	1.55	0.23275	.	0.800606	0.11051	N	0.605079	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.17930	-1.0353	10	0.38643	T	0.18	-9.2309	3.8773	0.09062	0.0:0.5763:0.203:0.2207	.	1529;110	Q9C0C2;Q86TK2	TB182_HUMAN;.	S	1529	ENSP00000350990:A1529S;ENSP00000437271:A1529S	ENSP00000350990:A1529S	A	-	1	0	TNKS1BP1	56826607	0.010000	0.17322	0.005000	0.12908	0.006000	0.05464	1.803000	0.38863	1.097000	0.41459	0.561000	0.74099	GCA	TNKS1BP1	-	NULL		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57070031	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.000	A	A	57070031	C	A	57070031	3	1	101	1	0	0	0	0	1	0	0	0	16350	797	28	4	624	4	TNKS1BP1	11	57070031	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1411402	57070031	77936485	196	14827										
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57075888	57075888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccttgctccgaagctgagggCttctcctgtctccattccag	9	15	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:57075888C>A	ENST00000532437.1	-	5	4608	c.4297G>T	c.(4297-4299)Gcc>Tcc	p.A1433S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1433S|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1433	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGCTGAGGGCTTCTCCTGTC	0.567																																																	0													258	261	260					11																	57075888		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4297G>T	11.37:g.57075888C>A	ENSP00000437271:p.Ala1433Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.A1433S	ENST00000532437.1	37	c.4297	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889735	0.17540	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34072	1.38;1.38	4.63	-2.89	0.05665	.	0.882556	0.09461	N	0.798978	T	0.12902	0.0313	N	0.05510	-0.035	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33420	-0.9869	10	0.08179	T	0.78	-0.136	3.7409	0.08530	0.5583:0.2219:0.129:0.0907	.	1433	Q9C0C2	TB182_HUMAN	S	1433	ENSP00000350990:A1433S;ENSP00000437271:A1433S	ENSP00000350990:A1433S	A	-	1	0	TNKS1BP1	56832464	0.000000	0.05858	0.005000	0.12908	0.097000	0.18754	-0.605000	0.05661	-0.126000	0.11682	0.561000	0.74099	GCC	TNKS1BP1	-	NULL		0.567	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57075888	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.001	A	A	57075888	C	A	57075888	3	1	101	1	0	0	0	0	1	0	0	0	16350	797	28	4	916	4	TNKS1BP1	11	57075888	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	5857	57075888	77930628	197	14828										
OSBP	5007	genome.wustl.edu	37	chr11	59361137	59361137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggtgattttgatttcctgacGcaatgtccagccatttttgg	10	8	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:59361137G>A	ENST00000263847.1	-	9	2097	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	540					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATTTCCTGACGCAATGTCCAG	0.463																																																	0													139	121	127					11																	59361137		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1618C>T	11.37:g.59361137G>A	ENSP00000263847:p.Arg540Cys		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R540C	ENST00000263847.1	37	c.1618	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284551	0.80803	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.30714	1.52	6.06	6.06	0.98353	.	0.045297	0.85682	D	0.000000	T	0.46073	0.1374	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.32587	-0.9901	10	0.87932	D	0	-9.3142	14.2555	0.66048	0.0:0.0:0.8509:0.1491	.	540	P22059	OSBP1_HUMAN	C	540;140	ENSP00000263847:R540C	ENSP00000263847:R540C	R	-	1	0	OSBP	59117713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	2.882000	0.98803	0.655000	0.94253	CGT	OSBP	-	pfam_Oxysterol-bd		0.463	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	G			59361137	-1	no_errors	ENST00000263847	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59361137	G	A	59361137	3	1	101	1	0	0	0	0	1	0	0	0	11297	1087	38	2	829	2	OSBP	11	59361137	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2285249	59361137	75645379	198	14829										
SLC3A2	6520	genome.wustl.edu	37	chr11	62651929	62651929	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tattcttctgccccctatagGatgctctggagttttggctg	10	10	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:62651929G>A	ENST00000377890.2	+	7	1162	c.994G>A	c.(994-996)Gat>Aat	p.D332N	SLC3A2_ENST00000535296.1_Splice_Site_p.D301N|SLC3A2_ENST00000377891.2_Splice_Site_p.D333N|SLC3A2_ENST00000536981.1_De_novo_Start_OutOfFrame|SLC3A2_ENST00000377889.2_Splice_Site_p.D270N|SLC3A2_ENST00000338663.7_Splice_Site_p.D231N|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377892.1_Splice_Site_p.D363N	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	332					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CCCCCTATAGGATGCTCTGGA	0.507											OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													116	113	114					11																	62651929		2201	4298	6499	SO:0001630	splice_region_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.994-1G>A	11.37:g.62651929G>A		1062	Q13543	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.D363N	ENST00000377890.2	37	c.1087	CCDS8039.2	11	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093300	0.56075	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98493	-4.85;-4.85;-4.85;-4.85;-4.96;-4.85	4.49	2.6	0.31112	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.011660	0.07895	N	0.971828	D	0.95743	0.8615	L	0.47716	1.5	0.32026	N	0.600108	B;B;B;B;P	0.38597	0.133;0.057;0.436;0.372;0.639	B;B;B;B;B	0.35470	0.034;0.02;0.203;0.068;0.129	D	0.92789	0.6247	10	0.39692	T	0.17	0.0037	7.1811	0.25774	0.0918:0.0:0.739:0.1692	.	270;301;332;231;363	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	N	363;333;332;333;270;301;231;213	ENSP00000367124:D363N;ENSP00000367123:D333N;ENSP00000367122:D332N;ENSP00000367121:D270N;ENSP00000444236:D301N;ENSP00000340815:D231N	ENSP00000340815:D231N	D	+	1	0	SLC3A2	62408505	.	.	0.358000	0.25811	0.501000	0.33797	.	.	0.510000	0.28216	0.313000	0.20887	GAT	SLC3A2	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.507	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SLC3A2	HGNC	protein_coding	OTTHUMT00000157306.1	G	NM_001012661	Missense_Mutation	62651929	1	no_errors	ENST00000377892	ensembl	human	known	70_37	missense	SNP	0.750	A	A	62651929	G	A	62651929	5	1	101	1	0	0	0	0	0	0	1	0	14657	1188	41	1	1120	1	SLC3A2	11	62651929	Splice_Site	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3290792	62651929	72354587	199	14830										
NRXN2	9379	genome.wustl.edu	37	chr11	64428457	64428457	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acacagcccacgtagcctgcCcggagtgctgctgtccacac	10	17	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:64428457C>G	ENST00000377551.1	-	9	2164	c.1953G>C	c.(1951-1953)cgG>cgC	p.R651R	NRXN2_ENST00000377559.3_Silent_p.R620R|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.R644R|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000265459.6_Silent_p.R651R			Q9P2S2	NRX2A_HUMAN	neurexin 2	651	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGTAGCCTGCCCGGAGTGCTG	0.687																																																	0													31	31	31					11																	64428457		2201	4296	6497	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1953G>C	11.37:g.64428457C>G			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R651	ENST00000377551.1	37	c.1953	CCDS8077.1	11																																																																																			NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.687	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	C	NM_015080		64428457	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	silent	SNP	0.309	G	G	64428457	C	G	64428457	2	3	101	1	0	0	0	0	0	0	0	1	10690	610	22	4		4	NRXN2	11	64428457	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1776528	64428457	70578059	200	14831										
EHD1	10938	genome.wustl.edu	37	chr11	64627615	64627615	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaccacatgagggccccgtaCacccgcatcagctgctgcgt	11	16	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:64627615C>G	ENST00000320631.3	-	3	950	c.696G>C	c.(694-696)gtG>gtC	p.V232V	EHD1_ENST00000359393.2_Silent_p.V232V	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	232	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GGGCCCCGTACACCCGCATCA	0.597																																																	0													101	98	99					11																	64627615		2201	4297	6498	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.696G>C	11.37:g.64627615C>G			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.V232	ENST00000320631.3	37	c.696	CCDS8084.1	11																																																																																			EHD1	-	NULL		0.597	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	C	NM_006795		64627615	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	0.918	G	G	64627615	C	G	64627615	2	3	101	1	0	0	0	0	0	0	0	1	4987	465	17	4		4	EHD1	11	64627615	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	199158	64627615	70378901	201	14832										
LRP5	4041	genome.wustl.edu	37	chr11	68192732	68192732	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttctgggtggacgcggacctGaagcgcattgagagctgtga	16	8	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:68192732G>C	ENST00000294304.7	+	15	3505	c.3399G>C	c.(3397-3399)ctG>ctC	p.L1133L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1133	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGCGGACCTGAAGCGCATTG	0.647																																																	0													82	57	66					11																	68192732		2200	4294	6494	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3399G>C	11.37:g.68192732G>C			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L1133	ENST00000294304.7	37	c.3399	CCDS8181.1	11																																																																																			LRP5	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt		0.647	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68192732	1	no_errors	ENST00000294304	ensembl	human	known	70_37	silent	SNP	1.000	C	C	68192732	G	C	68192732	2	2	101	1	0	0	0	0	0	0	0	1	8983	1277	45	1		1	LRP5	11	68192732	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3565117	68192732	66813784	202	14833										
OR2AT4	341152	genome.wustl.edu	37	chr11	74800316	74800316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gccaggcactggctgccaagGtagcattggtctgtgggttc	15	10	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:74800316G>A	ENST00000305159.3	-	1	483	c.443C>T	c.(442-444)aCc>aTc	p.T148I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCTGCCAAGGTAGCATTGGT	0.552																																																	0													100	95	97					11																	74800316		2200	4293	6493	SO:0001583	missense	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.443C>T	11.37:g.74800316G>A	ENSP00000304846:p.Thr148Ile		B9EGZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.T148I	ENST00000305159.3	37	c.443	CCDS31639.1	11	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358590	0.05138	.	.	ENSG00000171561	ENST00000305159	T	0.79352	-1.26	5.26	-0.837	0.10766	GPCR, rhodopsin-like superfamily (1);	1.369970	0.05642	U	0.583545	T	0.54615	0.1869	N	0.04043	-0.29	0.09310	N	1	B	0.15719	0.014	B	0.23716	0.048	T	0.46679	-0.9174	10	0.59425	D	0.04	.	1.9056	0.03276	0.371:0.1243:0.3784:0.1263	.	148	A6NND4	O2AT4_HUMAN	I	148	ENSP00000304846:T148I	ENSP00000304846:T148I	T	-	2	0	OR2AT4	74477964	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-1.292000	0.02772	-0.036000	0.13669	-0.355000	0.07637	ACC	OR2AT4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AT4	HGNC	protein_coding	OTTHUMT00000383734.1	G	NM_001005285		74800316	-1	no_errors	ENST00000305159	ensembl	human	known	70_37	missense	SNP	0.000	A	A	74800316	G	A	74800316	3	1	101	1	0	0	0	0	1	0	0	0	11011	1261	44	4	522	4	OR2AT4	11	74800316	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	6607584	74800316	60206200	203	14834										
CLNS1A	1207	genome.wustl.edu	37	chr11	77340878	77340878	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cttcggtccctggataatgcAtgtaaactaatggtggggta	12	7	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:77340878A>T	ENST00000525428.1	-	2	282	c.192T>A	c.(190-192)caT>caA	p.H64Q	CLNS1A_ENST00000532069.1_Missense_Mutation_p.H64Q|CLNS1A_ENST00000525064.1_Missense_Mutation_p.H64Q|CLNS1A_ENST00000263309.3_Missense_Mutation_p.H64Q|CLNS1A_ENST00000528364.1_Missense_Mutation_p.H64Q	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	64					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TGGATAATGCATGTAAACTAA	0.383																																																	0													111	99	103					11																	77340878		2200	4292	6492	SO:0001583	missense	1207			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.192T>A	11.37:g.77340878A>T	ENSP00000433919:p.His64Gln		B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	prints_ICln_channel	p.H64Q	ENST00000525428.1	37	c.192	CCDS8252.1	11	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860381	0.51482	.	.	ENSG00000074201	ENST00000525428;ENST00000263309;ENST00000525064;ENST00000532069;ENST00000528364	T;T;T;T;T	0.79940	-0.08;-1.32;0.1;-0.87;-0.08	5.09	2.7	0.31948	.	0.000000	0.85682	D	0.000000	D	0.91085	0.7194	H	0.95470	3.675	0.58432	D	0.999997	D;P	0.76494	0.999;0.658	D;P	0.83275	0.996;0.612	D	0.89711	0.3912	10	0.52906	T	0.07	-6.3801	8.9305	0.35668	0.7743:0.0:0.2257:0.0	.	64;64	E9PMI6;P54105	.;ICLN_HUMAN	Q	64	ENSP00000433919:H64Q;ENSP00000263309:H64Q;ENSP00000433741:H64Q;ENSP00000434963:H64Q;ENSP00000434311:H64Q	ENSP00000263309:H64Q	H	-	3	2	CLNS1A	77018526	1.000000	0.71417	0.997000	0.53966	0.488000	0.33401	1.035000	0.30216	0.464000	0.27142	0.528000	0.53228	CAT	CLNS1A	-	prints_ICln_channel		0.383	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNS1A	HGNC	protein_coding	OTTHUMT00000382156.2	A	NM_001293		77340878	-1	no_errors	ENST00000525428	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77340878	A	T	77340878	3	4	101	1	0	0	0	0	1	0	0	0	3553	214	8	5	541	5	CLNS1A	11	77340878	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	2540562	77340878	57665638	204	14835										
GRM5	2915	genome.wustl.edu	37	chr11	88386447	88386447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtttcggtggtttgtttctgGccggagcttcagataataat	12	6	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:88386447G>T	ENST00000305447.4	-	3	1185	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	GRM5_ENST00000305432.5_Missense_Mutation_p.P346T|GRM5_ENST00000393297.1_Missense_Mutation_p.P346T|GRM5_ENST00000455756.2_Missense_Mutation_p.P346T|GRM5_ENST00000418177.2_Missense_Mutation_p.P346T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	346					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTTGTTTCTGGCCGGAGCTTC	0.458																																																	0													93	93	93					11																	88386447		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1036C>A	11.37:g.88386447G>T	ENSP00000306138:p.Pro346Thr		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.P346T	ENST00000305447.4	37	c.1036	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598651	0.87055	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94564	0.7765	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	346;346	P41594-2;P41594	.;GRM5_HUMAN	T	346	ENSP00000402912:P346T;ENSP00000405690:P346T;ENSP00000305905:P346T;ENSP00000306138:P346T;ENSP00000376975:P346T	.	P	-	1	0	GRM5	88026095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CCA	GRM5	-	pfam_ANF_lig-bd_rcpt		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	G	NM_000842		88386447	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88386447	G	T	88386447	3	4	101	1	0	0	0	0	1	0	0	0	6820	1203	42	4	2630	4	GRM5	11	88386447	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	11045569	88386447	46620069	205	14836										
FAT3	120114	genome.wustl.edu	37	chr11	92087287	92087287	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccccatgtctattaacatttCagtcctacatgggaaagtgt	7	10	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:92087287C>A	ENST00000298047.6	+	1	2026	c.2009C>A	c.(2008-2010)tCa>tAa	p.S670*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.S670*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S670*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.S520*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAACATTTCAGTCCTACAT	0.403										TCGA Ovarian(4;0.039)																																							0													71	69	69					11																	92087287		1837	4090	5927	SO:0001587	stop_gained	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2009C>A	11.37:g.92087287C>A	ENSP00000298047:p.Ser670*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S670*	ENST00000298047.6	37	c.2009		11	.	.	.	.	.	.	.	.	.	.	C	39	7.538165	0.98345	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.5401	0.91024	0.0:1.0:0.0:0.0	.	.	.	.	X	670;670;670;520	.	ENSP00000298047:S670X	S	+	2	0	FAT3	91726935	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.755000	0.85180	2.623000	0.88846	0.467000	0.42956	TCA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92087287	1	no_errors	ENST00000298047	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	92087287	C	A	92087287	4	1	101	1	0	0	0	0	0	1	0	0	5709	838	29	3	2011	3	FAT3	11	92087287	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3700840	92087287	42919229	206	14837										
CNTN5	53942	genome.wustl.edu	37	chr11	99827718	99827718	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tagagtccttagtcctccaaCgccactcactctgcgtaatg	7	14	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:99827718C>G	ENST00000524871.1	+	8	1144	c.854C>G	c.(853-855)aCg>aGg	p.T285R	CNTN5_ENST00000528682.1_Missense_Mutation_p.T285R|CNTN5_ENST00000418526.2_Missense_Mutation_p.T211R|CNTN5_ENST00000527185.1_Missense_Mutation_p.T285R|CNTN5_ENST00000279463.3_Missense_Mutation_p.T285R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	285					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCCTCCAACGCCACTCACT	0.393																																																	0													40	40	40					11																	99827718		1943	4148	6091	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.854C>G	11.37:g.99827718C>G	ENSP00000435637:p.Thr285Arg		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T285R	ENST00000524871.1	37	c.854	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907457	0.52333	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57907	0.37;0.43;0.43;0.43;0.43	5.47	5.47	0.80525	Immunoglobulin subtype (1);	0.050201	0.85682	D	0.000000	T	0.76856	0.4046	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.80195	-0.1483	10	0.87932	D	0	.	18.6577	0.91460	0.0:1.0:0.0:0.0	.	285;211;285	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	R	285;285;285;211;285	ENSP00000433575:T285R;ENSP00000436185:T285R;ENSP00000435637:T285R;ENSP00000393229:T211R;ENSP00000279463:T285R	ENSP00000279463:T285R	T	+	2	0	CNTN5	99332928	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	7.417000	0.80156	2.711000	0.92665	0.585000	0.79938	ACG	CNTN5	-	smart_Ig_sub		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	C	NM_014361		99827718	1	no_errors	ENST00000279463	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99827718	C	G	99827718	3	3	101	1	0	0	0	0	1	0	0	0	3649	536	19	2	876	2	CNTN5	11	99827718	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	7740431	99827718	35178798	207	14838										
ZBTB16	7704	genome.wustl.edu	37	chr11	113935017	113935017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cccgcctgagaagcatctggGcatctactccgtgttgccca	10	15	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:113935017G>T	ENST00000335953.4	+	2	1375	c.995G>T	c.(994-996)gGc>gTc	p.G332V	ZBTB16_ENST00000392996.2_Missense_Mutation_p.G332V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	332					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AAGCATCTGGGCATCTACTCC	0.662																																																	0													60	57	58					11																	113935017		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.995G>T	11.37:g.113935017G>T	ENSP00000338157:p.Gly332Val		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G332V	ENST00000335953.4	37	c.995	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470635	0.43942	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.12569	2.67;2.67	4.98	4.98	0.66077	.	0.118422	0.56097	D	0.000022	T	0.10165	0.0249	N	0.14661	0.345	0.80722	D	1	B;P	0.44877	0.437;0.845	B;B	0.38428	0.154;0.273	T	0.12760	-1.0535	10	0.54805	T	0.06	-16.0589	18.4293	0.90619	0.0:0.0:1.0:0.0	.	332;337	Q05516;Q59H43	ZBT16_HUMAN;.	V	332	ENSP00000338157:G332V;ENSP00000376721:G332V	ENSP00000338157:G332V	G	+	2	0	ZBTB16	113440227	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	5.816000	0.69222	2.582000	0.87167	0.563000	0.77884	GGC	ZBTB16	-	NULL		0.662	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		113935017	1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113935017	G	T	113935017	3	4	101	1	0	0	0	0	1	0	0	0	17556	1203	42	4	997	4	ZBTB16	11	113935017	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	14107299	113935017	21071499	208	14839										
PVRL1	5818	genome.wustl.edu	37	chr11	119535753	119535753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cttctcgtcgtctgagtcgtCggggtactgcaggttctgtg	14	10	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:119535753C>T	ENST00000264025.3	-	6	1788	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	420					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCTGAGTCGTCGGGGTACTGC	0.632																																																	0													104	77	86					11																	119535753		2198	4293	6491	SO:0001583	missense	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1258G>A	11.37:g.119535753C>T	ENSP00000264025:p.Asp420Asn		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D420N	ENST00000264025.3	37	c.1258	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	-	17.75	3.466826	0.63625	.	.	ENSG00000110400	ENST00000264025	T	0.18338	2.22	3.9	3.9	0.45041	.	0.327894	0.30269	N	0.010010	T	0.15478	0.0373	L	0.38175	1.15	0.80722	D	1	P	0.50943	0.94	B	0.40066	0.318	T	0.07195	-1.0785	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:1.0:0.0:0.0	.	420	Q15223	PVRL1_HUMAN	N	420	ENSP00000264025:D420N	ENSP00000264025:D420N	D	-	1	0	PVRL1	119040963	1.000000	0.71417	0.040000	0.18447	0.428000	0.31595	7.239000	0.78182	2.108000	0.64289	0.479000	0.44913	GAC	PVRL1	-	NULL		0.632	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	C			119535753	-1	no_errors	ENST00000264025	ensembl	human	known	70_37	missense	SNP	0.959	T	T	119535753	C	T	119535753	3	4	101	1	0	0	0	0	1	0	0	0	12869	884	31	1	685	1	PVRL1	11	119535753	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	5600736	119535753	15470763	209	14840										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120300164	120300164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctaggaggaaaacaatgtgGttcataaccagaaagtagaa	10	5	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:120300164G>A	ENST00000397843.2	+	9	767	c.601G>A	c.(601-603)Gtt>Att	p.V201I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.V98I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V182I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	201					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAACAATGTGGTTCATAACCA	0.323			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													63	63	63					11																	120300164		1801	4061	5862	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.601G>A	11.37:g.120300164G>A	ENSP00000380942:p.Val201Ile		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V182I	ENST00000397843.2	37	c.544	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712033	0.68730	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.48836	0.8;0.8;0.8	5.87	5.87	0.94306	.	0.000000	0.41823	D	0.000806	T	0.58366	0.2117	M	0.61703	1.905	0.45307	D	0.998307	P;P;P	0.45569	0.861;0.86;0.793	B;P;B	0.47915	0.297;0.561;0.269	T	0.58284	-0.7663	10	0.59425	D	0.04	-18.1788	20.5827	0.99408	0.0:0.0:1.0:0.0	.	98;182;201	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	I	201;182;98	ENSP00000380942:V201I;ENSP00000349056:V182I;ENSP00000432984:V98I	ENSP00000349056:V182I	V	+	1	0	ARHGEF12	119805374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.693000	0.74582	2.941000	0.99782	0.655000	0.94253	GTT	ARHGEF12	-	NULL		0.323	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120300164	1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120300164	G	A	120300164	3	1	101	1	0	0	0	0	1	0	0	0	897	1261	44	4	635	4	ARHGEF12	11	120300164	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	764411	120300164	14706352	210	14841										
GRIK4	2900	genome.wustl.edu	37	chr11	120776103	120776103	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aaggagctggcagagatcctCcgattcaactacaagatccg	10	11	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:120776103C>G	ENST00000527524.2	+	13	1664	c.1377C>G	c.(1375-1377)ctC>ctG	p.L459L	GRIK4_ENST00000438375.2_Silent_p.L459L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	459					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGAGATCCTCCGATTCAACT	0.582																																																	0													165	162	163					11																	120776103		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1377C>G	11.37:g.120776103C>G			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L459	ENST00000527524.2	37	c.1377	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.582	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120776103	1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	0.142	G	G	120776103	C	G	120776103	2	3	101	1	0	0	0	0	0	0	0	1	6796	842	30	1		1	GRIK4	11	120776103	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	475939	120776103	14230413	211	14842										
TAS2R13	50838	genome.wustl.edu	37	chr12	11061753	11061753	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctggagattgccaagataaTgaggagtttatcgactgagg	13	5	1	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:11061753T>G	ENST00000390677.2	-	1	408	c.145A>C	c.(145-147)Att>Ctt	p.I49L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	49					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCAAGATAATGAGGAGTTTA	0.383																																																	0													69	65	66					12																	11061753		2203	4300	6503	SO:0001583	missense	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.145A>C	12.37:g.11061753T>G	ENSP00000375095:p.Ile49Leu		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.I49L	ENST00000390677.2	37	c.145	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	T	3.717	-0.058366	0.07317	.	.	ENSG00000212128	ENST00000390677	T	0.00717	5.79	3.3	2.13	0.27403	.	1.109960	0.07205	N	0.858221	T	0.00695	0.0023	N	0.17278	0.47	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.47711	-0.9096	10	0.42905	T	0.14	.	5.275	0.15645	0.0:0.1381:0.0:0.8619	.	49	Q9NYV9	T2R13_HUMAN	L	49	ENSP00000375095:I49L	ENSP00000375095:I49L	I	-	1	0	TAS2R13	10953020	0.016000	0.18221	0.392000	0.26245	0.001000	0.01503	0.496000	0.22499	0.449000	0.26747	-0.256000	0.11100	ATT	TAS2R13	-	pfam_TAS2_rcpt		0.383	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	T			11061753	-1	no_errors	ENST00000390677	ensembl	human	known	70_37	missense	SNP	0.533	G	G	11061753	T	G	11061753	3	3	101	1	0	0	0	0	1	0	0	0	15597	1464	51	5	770	5	TAS2R13	12	11061753	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09		11061753	122790142	212	14843										
C12orf40	283461	genome.wustl.edu	37	chr12	40076812	40076812	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acttttagtaattcgactttGaataaaacaagttatccaga	5	6	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:40076812G>C	ENST00000324616.5	+	8	1240	c.1086G>C	c.(1084-1086)ttG>ttC	p.L362F	C12orf40_ENST00000398716.1_Missense_Mutation_p.L285F|C12orf40_ENST00000405531.3_Missense_Mutation_p.L362F	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	362										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTCGACTTTGAATAAAACAA	0.318																																																	0													43	40	41					12																	40076812		1825	4072	5897	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1086G>C	12.37:g.40076812G>C	ENSP00000317671:p.Leu362Phe		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.L362F	ENST00000324616.5	37	c.1086	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.952874	0.00470	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45668	0.89;0.9	5.26	2.86	0.33363	.	0.880500	0.09864	N	0.745848	T	0.18341	0.0440	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	10	0.14252	T	0.57	.	6.9313	0.24444	0.1435:0.0:0.1636:0.6928	.	362	Q86WS4	CL040_HUMAN	F	362;285;362	ENSP00000383897:L362F;ENSP00000317671:L362F	ENSP00000317671:L362F	L	+	3	2	C12orf40	38363079	0.001000	0.12720	0.002000	0.10522	0.533000	0.34776	0.421000	0.21280	0.497000	0.27926	-0.467000	0.05162	TTG	C12orf40	-	NULL		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	G	NM_173599		40076812	1	no_errors	ENST00000324616	ensembl	human	known	70_37	missense	SNP	0.003	C	C	40076812	G	C	40076812	3	2	101	1	0	0	0	0	1	0	0	0	1690	1281	45	1	1116	1	C12orf40	12	40076812	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	29015059	40076812	93775083	213	14844										
VDR	7421	genome.wustl.edu	37	chr12	48251431	48251431	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcctccttccgcttcaggatCatctcccgcttcctctgcac	5	19	4	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:48251431C>T	ENST00000395324.2	-	5	586	c.318G>A	c.(316-318)atG>atA	p.M106I	VDR_ENST00000550325.1_Missense_Mutation_p.M156I|VDR_ENST00000549336.1_Missense_Mutation_p.M106I|VDR_ENST00000535672.1_Missense_Mutation_p.M74I|VDR_ENST00000229022.3_Missense_Mutation_p.M106I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	106	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTTCAGGATCATCTCCCGCT	0.602																																																	0													145	107	120					12																	48251431		2203	4300	6503	SO:0001583	missense	7421			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.318G>A	12.37:g.48251431C>T	ENSP00000378734:p.Met106Ile		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.M106I	ENST00000395324.2	37	c.318	CCDS8757.1	12	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628611	0.46944	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653;ENST00000550314	D;D;D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.23	4.44	4.44	0.53790	Nuclear hormone receptor, ligand-binding (1);	0.444204	0.25094	N	0.033189	D	0.92603	0.7650	L	0.41492	1.28	0.46725	D	0.999173	B;B;B	0.20459	0.005;0.005;0.045	B;B;B	0.23574	0.005;0.005;0.047	D	0.90135	0.4209	10	0.46703	T	0.11	.	14.9439	0.71014	0.0:1.0:0.0:0.0	.	74;106;156	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	I	106;106;106;156;74;106;106	ENSP00000378734:M106I;ENSP00000229022:M106I;ENSP00000449573:M106I;ENSP00000447173:M156I;ENSP00000442145:M74I;ENSP00000448659:M106I;ENSP00000449561:M106I	ENSP00000229022:M106I	M	-	3	0	VDR	46537698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.056000	0.49923	2.461000	0.83175	0.491000	0.48974	ATG	VDR	-	NULL		0.602	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	VDR	HGNC	protein_coding	OTTHUMT00000406433.1	C			48251431	-1	no_errors	ENST00000229022	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48251431	C	T	48251431	3	4	101	1	0	0	0	0	1	0	0	0	17180	826	29	1	989	1	VDR	12	48251431	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	8174619	48251431	85600464	214	14845										
COL2A1	1280	genome.wustl.edu	37	chr12	48393727	48393727	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcagtggcgaggtcagttggGcagatggggcagcactctcc	17	10	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:48393727G>T	ENST00000380518.3	-	2	431	c.267C>A	c.(265-267)tgC>tgA	p.C89*	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	89	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTCAGTTGGGCAGATGGGGC	0.488																																																	0													74	81	79					12																	48393727		2067	4210	6277	SO:0001587	stop_gained	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.267C>A	12.37:g.48393727G>T	ENSP00000369889:p.Cys89*		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.C89*	ENST00000380518.3	37	c.267	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.169018	0.94768	.	.	ENSG00000139219	ENST00000380518	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0369	0.47806	0.0902:0.0:0.9098:0.0	.	.	.	.	X	89	.	ENSP00000369889:C89X	C	-	3	2	COL2A1	46679994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.031000	0.57267	2.584000	0.87258	0.563000	0.77884	TGC	COL2A1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.488	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	G	NM_001844		48393727	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48393727	G	T	48393727	4	4	101	1	0	0	0	0	0	1	0	0	3692	1195	42	4	4408	4	COL2A1	12	48393727	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	142296	48393727	85458168	215	14846										
CPSF6	11052	genome.wustl.edu	37	chr12	69650495	69650495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aggtttgcccttgttggtgtTggatctgaagcatcttcaaa	11	7	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:69650495T>C	ENST00000435070.2	+	4	503	c.393T>C	c.(391-393)gtT>gtC	p.V131V	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.V131V|CPSF6_ENST00000456847.3_Silent_p.V131V	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	131	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTGTTGGTGTTGGATCTGAAG	0.343																																																	0													119	119	119					12																	69650495		2203	4300	6503	SO:0001819	synonymous_variant	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.393T>C	12.37:g.69650495T>C			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V131	ENST00000435070.2	37	c.393	CCDS8988.1	12																																																																																			CPSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.343	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	T	NM_007007		69650495	1	no_errors	ENST00000266679	ensembl	human	known	70_37	silent	SNP	1.000	C	C	69650495	T	C	69650495	2	2	101	1	0	0	0	0	0	0	0	1	3834	1799	63	5		5	CPSF6	12	69650495	Silent	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	21256768	69650495	64201400	216	14847										
PLXNC1	10154	genome.wustl.edu	37	chr12	94653479	94653479	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttactgtcatccacacccttGaaaagcagaagaacttttct	5	11	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:94653479G>A	ENST00000258526.4	+	19	3469	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	PLXNC1_ENST00000545312.1_5'Flank|PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.E121K	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1074					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCACACCCTTGAAAAGCAGAA	0.408																																																	0													95	97	97					12																	94653479		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3220G>A	12.37:g.94653479G>A	ENSP00000258526:p.Glu1074Lys		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1074K	ENST00000258526.4	37	c.3220	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.645748	0.96704	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.23950	1.88;1.88	6.03	6.03	0.97812	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.994;0.998	T	0.66160	-0.5993	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	121;1074	B4DHQ7;O60486	.;PLXC1_HUMAN	K	1074;121	ENSP00000258526:E1074K;ENSP00000446720:E121K	ENSP00000258526:E1074K	E	+	1	0	PLXNC1	93177610	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.373000	0.97168	2.861000	0.98227	0.655000	0.94253	GAA	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.408	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94653479	1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94653479	G	A	94653479	3	1	101	1	0	0	0	0	1	0	0	0	12150	1291	45	1	3294	1	PLXNC1	12	94653479	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	25002984	94653479	39198416	217	14848										
MYO1H	283446	genome.wustl.edu	37	chr12	109843778	109843778	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acctggggaacattggttttGaagaagacgaccaaggctgt	13	7	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:109843778G>C	ENST00000431443.2	+	7	853	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	MYO1H_ENST00000310903.5_Missense_Mutation_p.E285Q|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	285	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CATTGGTTTTGAAGAAGACGA	0.488																																																	0													99	91	93					12																	109843778		1931	4148	6079	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.853G>C	12.37:g.109843778G>C	ENSP00000444076:p.Glu285Gln		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E285Q	ENST00000431443.2	37	c.853		12	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325108	0.24080	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87571	-2.27;-2.27	4.88	-0.139	0.13460	.	.	.	.	.	T	0.76948	0.4059	L	0.39633	1.23	0.24190	N	0.995559	B	0.06786	0.001	B	0.11329	0.006	T	0.57027	-0.7881	9	0.10902	T	0.67	.	6.1102	0.20096	0.271:0.1298:0.5993:0.0	.	285	F5H3C6	.	Q	285	ENSP00000439182:E285Q;ENSP00000444076:E285Q	ENSP00000439182:E285Q	E	+	1	0	MYO1H	108328161	1.000000	0.71417	0.515000	0.27774	0.976000	0.68499	2.686000	0.46968	-0.132000	0.11557	0.650000	0.86243	GAA	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.488	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		G	NM_173597		109843778	1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	0.998	C	C	109843778	G	C	109843778	3	2	101	1	0	0	0	0	1	0	0	0	10098	1291	45	1	879	1	MYO1H	12	109843778	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	15190299	109843778	24008117	218	14849										
CUX2	23316	genome.wustl.edu	37	chr12	111744900	111744900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggagcggcagctcacggccaAgtccgaggccatagaagtgg	16	11	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:111744900A>G	ENST00000261726.6	+	11	1188	c.1034A>G	c.(1033-1035)aAg>aGg	p.K345R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	345					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCACGGCCAAGTCCGAGGCC	0.642																																																	0													19	24	23					12																	111744900		2007	4169	6176	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1034A>G	12.37:g.111744900A>G	ENSP00000261726:p.Lys345Arg		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.K345R	ENST00000261726.6	37	c.1034	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	A	28.8	4.955644	0.92726	.	.	ENSG00000111249	ENST00000261726	T	0.53857	0.6	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.74647	2.275	0.53688	D	0.999971	D	0.69078	0.997	D	0.75020	0.985	T	0.69647	-0.5089	10	0.30854	T	0.27	-37.8956	14.9123	0.70767	1.0:0.0:0.0:0.0	.	345	O14529	CUX2_HUMAN	R	345	ENSP00000261726:K345R	ENSP00000261726:K345R	K	+	2	0	CUX2	110229283	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.949000	0.93012	2.010000	0.58986	0.523000	0.50628	AAG	CUX2	-	superfamily_Prefoldin		0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	A	NM_015267		111744900	1	no_errors	ENST00000261726	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111744900	A	G	111744900	3	3	101	1	0	0	0	0	1	0	0	0	4070	72	3	5	1076	5	CUX2	12	111744900	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	1901122	111744900	22106995	219	14850										
DNAH10	196385	genome.wustl.edu	37	chr12	124402287	124402287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cctccttcgggagctggccaCgtccacggggaacatgctgg	14	14	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:124402287C>A	ENST00000409039.3	+	63	10830	c.10805C>A	c.(10804-10806)aCg>aAg	p.T3602K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3602	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGCTGGCCACGTCCACGGGG	0.602																																																	0													40	48	46					12																	124402287		2150	4237	6387	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10805C>A	12.37:g.124402287C>A	ENSP00000386770:p.Thr3602Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T3602K	ENST00000409039.3	37	c.10805	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605799	0.87157	.	.	ENSG00000197653	ENST00000409039	T	0.53857	0.6	5.24	4.35	0.52113	.	0.124537	0.53938	D	0.000057	T	0.66187	0.2764	L	0.58428	1.81	0.52501	D	0.999956	D	0.64830	0.994	D	0.66351	0.943	T	0.67417	-0.5676	10	0.51188	T	0.08	.	13.5331	0.61633	0.0:0.9246:0.0:0.0754	.	3602	Q8IVF4	DYH10_HUMAN	K	3602	ENSP00000386770:T3602K	ENSP00000386770:T3602K	T	+	2	0	DNAH10	122968240	1.000000	0.71417	0.936000	0.37596	0.746000	0.42486	7.731000	0.84895	1.223000	0.43536	0.491000	0.48974	ACG	DNAH10	-	NULL		0.602	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124402287	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	0.992	A	A	124402287	C	A	124402287	3	1	101	1	0	0	0	0	1	0	0	0	4608	536	19	2	11055	2	DNAH10	12	124402287	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	12657387	124402287	9449608	220	14851										
EP400	57634	genome.wustl.edu	37	chr12	132472277	132472277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aggtgcatcagcgcattgcgGagctgaggaaagcaggtctg	16	8	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:132472277G>A	ENST00000333577.4	+	8	2468	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K	EP400_ENST00000389561.2_Missense_Mutation_p.E751K|EP400_ENST00000389562.2_Missense_Mutation_p.E750K|EP400_ENST00000332482.4_Missense_Mutation_p.E714K|EP400_ENST00000330386.6_Missense_Mutation_p.E751K			Q96L91	EP400_HUMAN	E1A binding protein p400	787					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCGCATTGCGGAGCTGAGGAA	0.582																																																	0													48	46	46					12																	132472277		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2359G>A	12.37:g.132472277G>A	ENSP00000333602:p.Glu787Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E787K	ENST00000333577.4	37	c.2359		12	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718612	0.30503	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92249	-2.97;-2.96;-2.96;-3.0;-2.95	5.3	5.3	0.74995	.	0.199184	0.51477	D	0.000087	D	0.92639	0.7661	L	0.52905	1.665	0.42367	D	0.992433	P;P;P;P;P	0.45212	0.675;0.675;0.675;0.853;0.787	B;B;B;P;B	0.47430	0.154;0.185;0.154;0.547;0.254	D	0.93338	0.6707	10	0.66056	D	0.02	.	19.3223	0.94246	0.0:0.0:1.0:0.0	.	751;751;750;787;714	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	K	714;787;751;750;714;751;787;751;751	ENSP00000333602:E787K;ENSP00000374212:E751K;ENSP00000374213:E750K;ENSP00000331737:E714K;ENSP00000330620:E751K	ENSP00000330620:E751K	E	+	1	0	EP400	131038230	1.000000	0.71417	0.774000	0.31636	0.003000	0.03518	7.823000	0.86660	2.637000	0.89404	0.563000	0.77884	GAG	EP400	-	NULL		0.582	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132472277	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132472277	G	A	132472277	3	1	101	1	0	0	0	0	1	0	0	0	5161	1175	41	1	2270	1	EP400	12	132472277	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	8069990	132472277	1379618	221	14852										
PABPC3	5042	genome.wustl.edu	37	chr13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccgatgaaagtggaaaatccAaaggatttggatttgtaagc	11	5	0	1	rs78826513	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGAAAATCCAAAGGATTTGG	0.418																																																	0													81	76	78					13																	25671027		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.K231E	ENST00000281589.3	37	c.691	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	A	NM_030979		25671027	1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	0.999	G	G	25671027	A	G	25671027	3	3	101	1	0	0	0	0	1	0	0	0	11389	131	5	5	693	5	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09		25671027	89498851	222	14853										
USPL1	10208	genome.wustl.edu	37	chr13	31205523	31205523	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	accgtgactggactgtgctcGaaggaggaatctatattctg	12	8	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:31205523G>A	ENST00000255304.4	+	4	1122	c.780G>A	c.(778-780)tcG>tcA	p.S260S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	260	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACTGTGCTCGAAGGAGGAAT	0.408																																					Ovarian(60;318 1180 1554 28110 31601)												0													135	135	135					13																	31205523		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.780G>A	13.37:g.31205523G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S260	ENST00000255304.4	37	c.780	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205523	1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31205523	G	A	31205523	2	1	101	1	0	0	0	0	0	0	0	1	17123	1045	37	1		1	USPL1	13	31205523	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5534496	31205523	83964355	223	14854										
USPL1	10208	genome.wustl.edu	37	chr13	31227300	31227300	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacagagtatctcccatattCatgttgcactttgtagaagg	8	9	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:31227300C>T	ENST00000255304.4	+	8	1596	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	418	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTCCCATATTCATGTTGCACT	0.358																																					Ovarian(60;318 1180 1554 28110 31601)												0													194	193	193					13																	31227300		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1254C>T	13.37:g.31227300C>T			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.F418	ENST00000255304.4	37	c.1254	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.358	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	C	NM_005800		31227300	1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.998	T	T	31227300	C	T	31227300	2	4	101	1	0	0	0	0	0	0	0	1	17123	825	29	1		1	USPL1	13	31227300	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	21777	31227300	83942578	224	14855										
SLC15A1	6564	genome.wustl.edu	37	chr13	99356572	99356572	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtgattgggggcccacactaGaagcgtgtggcgttggccct	16	10	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:99356572G>A	ENST00000376503.5	-	17	1442	c.1387C>T	c.(1387-1389)Cta>Tta	p.L463L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	463					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCCCACACTAGAAGCGTGTGG	0.458																																																	0													156	144	148					13																	99356572		2203	4300	6503	SO:0001819	synonymous_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1387C>T	13.37:g.99356572G>A			Q5VW82	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.L463	ENST00000376503.5	37	c.1387	CCDS9489.1	13																																																																																			SLC15A1	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.458	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	G	NM_005073		99356572	-1	no_errors	ENST00000376503	ensembl	human	known	70_37	silent	SNP	0.610	A	A	99356572	G	A	99356572	2	1	101	1	0	0	0	0	0	0	0	1	14428	933	33	1		1	SLC15A1	13	99356572	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	68129272	99356572	15813306	225	14856										
OR11H12	440153	genome.wustl.edu	37	chr14	19377962	19377962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tatttcttcttctctttgggTacatcagaatgcttgctttt	6	8	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:19377962T>C	ENST00000550708.1	+	1	441	c.369T>C	c.(367-369)ggT>ggC	p.G123G		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTTGGGTACATCAGAAT	0.418																																																	0													2	2	2					14																	19377962		756	1862	2618	SO:0001819	synonymous_variant	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.369T>C	14.37:g.19377962T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G123	ENST00000550708.1	37	c.369	CCDS32017.1	14																																																																																			OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	T	NM_001013354		19377962	1	no_errors	ENST00000550708	ensembl	human	known	70_37	silent	SNP	0.010	C	C	19377962	T	C	19377962	2	2	101	1	0	0	0	0	0	0	0	1	10951	1625	57	5		5	OR11H12	14	19377962	Silent	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09		19377962	87971578	226	14857										
CHD8	57680	genome.wustl.edu	37	chr14	21861276	21861276	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtttgttaccttgggccactCagaggctctttgtctttcct	9	11	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:21861276C>G	ENST00000557364.1	-	33	6720	c.6457G>C	c.(6457-6459)Gag>Cag	p.E2153Q	CHD8_ENST00000430710.3_Missense_Mutation_p.E1874Q|CHD8_ENST00000399982.2_Missense_Mutation_p.E2153Q|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2153					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGGGCCACTCAGAGGCTCTT	0.468																																																	0													87	87	87					14																	21861276		1861	4112	5973	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6457G>C	14.37:g.21861276C>G	ENSP00000451601:p.Glu2153Gln		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2153Q	ENST00000557364.1	37	c.6457	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274203	0.23221	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.89681	-2.54;-2.55;-2.55	5.39	5.39	0.77823	.	0.077917	0.52532	D	0.000063	D	0.86489	0.5945	L	0.36672	1.1	0.30861	N	0.733554	D	0.56968	0.978	P	0.47528	0.549	D	0.84408	0.0564	10	0.29301	T	0.29	-20.3332	16.1768	0.81857	0.0:1.0:0.0:0.0	.	1874	Q9HCK8-2	.	Q	1874;2153;1873;2153	ENSP00000406288:E1874Q;ENSP00000382863:E2153Q;ENSP00000451601:E2153Q	ENSP00000262707:E1873Q	E	-	1	0	CHD8	20931116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.205000	0.51090	2.808000	0.96608	0.655000	0.94253	GAG	CHD8	-	NULL		0.468	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21861276	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21861276	C	G	21861276	3	3	101	1	0	0	0	0	1	0	0	0	3336	835	29	1	1312	1	CHD8	14	21861276	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2483314	21861276	85488264	227	14858										
MLH3	27030	genome.wustl.edu	37	chr14	75485617	75485617	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	actggaatggcagctggcatGaggacagagcttcaataagg	14	7	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:75485617G>A	ENST00000556740.1	-	11	4192	c.4157C>T	c.(4156-4158)tCa>tTa	p.S1386L	RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000238662.7_Missense_Mutation_p.S1362L|MLH3_ENST00000380968.2_Missense_Mutation_p.S324L|MLH3_ENST00000556257.1_Missense_Mutation_p.S1208L|MLH3_ENST00000355774.2_Missense_Mutation_p.S1386L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1386					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CAGCTGGCATGAGGACAGAGC	0.453								Mismatch excision repair (MMR)																																									0													107	96	100					14																	75485617		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4157C>T	14.37:g.75485617G>A	ENSP00000452316:p.Ser1386Leu		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.S1386L	ENST00000556740.1	37	c.4157	CCDS32123.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.077|5.077	0.199875|0.199875	0.09652|0.09652	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000553713|ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	.|T;T;T;T;T	.|0.75477	.|-0.94;-0.94;-0.94;-0.94;-0.94	5.7|5.7	-0.949|-0.949	0.10376|0.10376	.|.	.|0.882868	.|0.10404	.|N	.|0.678829	T|T	0.47985|0.47985	0.1475|0.1475	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.26395|0.26395	-1.0104|-1.0104	5|10	.|0.11182	.|T	.|0.66	6.406|6.406	3.2056|3.2056	0.06665|0.06665	0.2302:0.4385:0.1964:0.1349|0.2302:0.4385:0.1964:0.1349	.|.	.|1362;1386	.|Q9UHC1-2;Q9UHC1	.|.;MLH3_HUMAN	Y|L	410|1386;324;1362;1208;1386	.|ENSP00000348020:S1386L;ENSP00000370355:S324L;ENSP00000238662:S1362L;ENSP00000451540:S1208L;ENSP00000452316:S1386L	.|ENSP00000238662:S1362L	H|S	-|-	1|2	0|0	MLH3|MLH3	74555370|74555370	0.003000|0.003000	0.15002|0.15002	0.514000|0.514000	0.27761|0.27761	0.072000|0.072000	0.16883|0.16883	0.730000|0.730000	0.26043|0.26043	-0.032000|-0.032000	0.13758|0.13758	-1.408000|-1.408000	0.01128|0.01128	CAT|TCA	MLH3	-	NULL		0.453	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	G	NM_014381		75485617	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	0.003	A	A	75485617	G	A	75485617	3	1	101	1	0	0	0	0	1	0	0	0	9641	1294	45	1	212	1	MLH3	14	75485617	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	53624341	75485617	31863923	228	14859										
ESRRB	2103	genome.wustl.edu	37	chr14	76928889	76928889	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tctctgtgtctggttgcaggGaacattgagtacagctgccc	12	10	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:76928889G>T	ENST00000509242.1	+	4	497	c.399G>T	c.(397-399)ggG>ggT	p.G133G	ESRRB_ENST00000261532.7_Splice_Site_p.G133G|ESRRB_ENST00000380887.2_Splice_Site_p.G133G|ESRRB_ENST00000556177.1_Splice_Site_p.G133G|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	133					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGGTTGCAGGGAACATTGAGT	0.622																																																	0													36	36	36					14																	76928889		2203	4300	6503	SO:0001630	splice_region_variant	2103			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.398-1G>T	14.37:g.76928889G>T			A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.G133	ENST00000509242.1	37	c.399	CCDS9850.2	14																																																																																			ESRRB	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.622	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1	G		Silent	76928889	1	no_errors	ENST00000380887	ensembl	human	known	70_37	silent	SNP	0.965	T	T	76928889	G	T	76928889	5	4	101	1	0	0	0	0	0	0	1	0	5273	1188	41	3	405	3	ESRRB	14	76928889	Splice_Site	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1443272	76928889	30420651	229	14860										
AHNAK2	113146	genome.wustl.edu	37	chr14	105411033	105411033	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acttctgccttggggcctttCaggtccagcttggggccctt	12	13	2	0	rs370843314		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:105411033C>T	ENST00000333244.5	-	7	10874	c.10755G>A	c.(10753-10755)ctG>ctA	p.L3585L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3585						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602																																																	0													101	111	108					14																	105411033		1886	4108	5994	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10755G>A	14.37:g.105411033C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L3585	ENST00000333244.5	37	c.10755	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105411033	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.008	T	T	105411033	C	T	105411033	2	4	101	1	0	0	0	0	0	0	0	1	415	813	29	1		1	AHNAK2	14	105411033	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	28482144	105411033	1938507	230	14861										
MAGEL2	54551	genome.wustl.edu	37	chr15	23890425	23890425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctacacaggcaaagggatccTgcagagcatatggcagtgac	12	10	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:23890425T>C	ENST00000532292.1	-	1	750	c.656A>G	c.(655-657)cAg>cGg	p.Q219R		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	102					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAAGGGATCCTGCAGAGCATA	0.572																																																	0													61	65	63					15																	23890425		1993	4173	6166	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.656A>G	15.37:g.23890425T>C	ENSP00000433433:p.Gln219Arg			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q219R	ENST00000532292.1	37	c.656		15	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049668	0.55218	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	1.82	0.25136	.	.	.	.	.	T	0.23133	0.0559	N	0.24115	0.695	0.24126	N	0.995787	.	.	.	.	.	.	T	0.22906	-1.0203	5	.	.	.	.	5.7162	0.17962	0.0:0.0936:0.1705:0.7358	.	.	.	.	G	251	.	.	R	-	1	2	MAGEL2	21441518	0.239000	0.23836	0.935000	0.37517	0.985000	0.73830	0.869000	0.27996	0.378000	0.24764	0.528000	0.53228	AGG	MAGEL2	-	NULL		0.572	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	T	NM_019066		23890425	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.988	C	C	23890425	T	C	23890425	3	2	101	1	0	0	0	0	1	0	0	0	9212	1580	55	5	1288	5	MAGEL2	15	23890425	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09		23890425	78640967	231	14862										
CHRNA7	1139	genome.wustl.edu	37	chr15	32460411	32460411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccacgcacgatgagcacctcCtgcacggcgggcaacccccc	10	20	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:32460411C>A	ENST00000306901.3	+	10	1358	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M	CHRNA7_ENST00000455693.2_Missense_Mutation_p.L240M|CHRNA7_ENST00000454250.3_Missense_Mutation_p.L450M	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	421					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGAGCACCTCCTGCACGGCGG	0.692																																					Esophageal Squamous(193;529 2900 40232 43193)												0													3	4	3					15																	32460411		1634	3350	4984	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1261C>A	15.37:g.32460411C>A	ENSP00000303727:p.Leu421Met		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L450M	ENST00000306901.3	37	c.1348	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	c	3.563	-0.089286	0.07097	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.23552	1.9;1.9;1.9	3.85	2.89	0.33648	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.400500	0.22780	N	0.055732	T	0.28333	0.0700	L	0.55213	1.73	0.37455	D	0.914998	B;B	0.18968	0.032;0.005	B;B	0.33799	0.17;0.016	T	0.23440	-1.0188	10	0.45353	T	0.12	.	10.6275	0.45516	0.201:0.799:0.0:0.0	.	450;421	B4DFS0;P36544	.;ACHA7_HUMAN	M	331;450;421;240	ENSP00000407546:L450M;ENSP00000303727:L421M;ENSP00000405989:L240M	ENSP00000303727:L421M	L	+	1	2	CHRNA7	30247703	0.739000	0.28196	0.521000	0.27850	0.044000	0.14063	1.971000	0.40530	1.138000	0.42230	0.655000	0.94253	CTG	CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.692	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	C			32460411	1	no_errors	ENST00000454250	ensembl	human	known	70_37	missense	SNP	0.617	A	A	32460411	C	A	32460411	3	1	101	1	0	0	0	0	1	0	0	0	3393	680	24	4	1299	4	CHRNA7	15	32460411	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	8569986	32460411	70070981	232	14863										
SPTBN5	51332	genome.wustl.edu	37	chr15	42146345	42146345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccgtcttctcctgcatccttCcctggagctcagctgctgcc	8	18	3	0	rs200748371	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:42146345C>T	ENST00000320955.6	-	57	9904	c.9677G>A	c.(9676-9678)gGa>gAa	p.G3226E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3226					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGCATCCTTCCCTGGAGCTC	0.622													C|||	2	0.000399361	0.0015	0	5008	,	,		16125	0		0	False		,,,				2504	0																0								C	GLU/GLY	5,4099		0,5,2047	33	35	35		9572	2.2	0	15		35	0,8418		0,0,4209	yes	missense	SPTBN5	NM_016642.2	98	0,5,6256	TT,TC,CC		0.0,0.1218,0.0399	possibly-damaging	3191/3640	42146345	5,12517	2052	4209	6261	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9677G>A	15.37:g.42146345C>T	ENSP00000317790:p.Gly3226Glu			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G3226E	ENST00000320955.6	37	c.9677		15	.	.	.	.	.	.	.	.	.	.	.	12.40	1.928067	0.34002	0.001218	0.0	ENSG00000137877	ENST00000320955	T	0.45276	0.9	4.1	2.15	0.27550	.	0.386399	0.24109	N	0.041469	T	0.40743	0.1129	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.57620	0.824	T	0.36768	-0.9734	10	0.11485	T	0.65	.	13.7404	0.62845	0.0:0.7054:0.2945:0.0	.	3226	Q9NRC6	SPTN5_HUMAN	E	3226	ENSP00000317790:G3226E	ENSP00000317790:G3226E	G	-	2	0	SPTBN5	39933637	0.009000	0.17119	0.007000	0.13788	0.003000	0.03518	1.405000	0.34635	0.358000	0.24211	0.467000	0.42956	GGA	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42146345	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.331	T	T	42146345	C	T	42146345	3	4	101	1	0	0	0	0	1	0	0	0	15152	855	30	1	1395	1	SPTBN5	15	42146345	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9685934	42146345	60385047	233	14864										
DMXL2	23312	genome.wustl.edu	37	chr15	51790822	51790822	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtatcagccaaagctacaagGaacatctgctccaaacgggt	9	11	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:51790822G>A	ENST00000251076.5	-	18	4886	c.4599C>T	c.(4597-4599)ttC>ttT	p.F1533F	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.F1533F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1533						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTACAAGGAACATCTGCT	0.413																																																	0													99	93	95					15																	51790822		2195	4293	6488	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4599C>T	15.37:g.51790822G>A			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1533	ENST00000251076.5	37	c.4599	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51790822	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51790822	G	A	51790822	2	1	101	1	0	0	0	0	0	0	0	1	4605	1165	41	1		1	DMXL2	15	51790822	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	9644477	51790822	50740570	234	14865										
PYGO1	26108	genome.wustl.edu	37	chr15	55839278	55839278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgtcatcaaatggattagcaGccactagatggtcagagttt	10	7	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:55839278G>T	ENST00000302000.6	-	3	297	c.203C>A	c.(202-204)gCt>gAt	p.A68D	PYGO1_ENST00000563719.1_Missense_Mutation_p.A68D	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	68	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGATTAGCAGCCACTAGATG	0.408																																																	0													58	57	57					15																	55839278		2193	4292	6485	SO:0001583	missense	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.203C>A	15.37:g.55839278G>T	ENSP00000302327:p.Ala68Asp		A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A68D	ENST00000302000.6	37	c.203	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007755	0.75046	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.69306	-0.39	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77807	-0.2450	10	0.62326	D	0.03	-15.3797	17.7164	0.88338	0.0:0.0:1.0:0.0	.	68;68	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	D	68	ENSP00000302327:A68D	ENSP00000302327:A68D	A	-	2	0	PYGO1	53626570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.654000	0.91092	2.490000	0.84030	0.585000	0.79938	GCT	PYGO1	-	NULL		0.408	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2	G	NM_015617		55839278	-1	no_errors	ENST00000302000	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55839278	G	T	55839278	3	4	101	1	0	0	0	0	1	0	0	0	12893	971	34	4	1060	4	PYGO1	15	55839278	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4048456	55839278	46692114	235	14866										
OAZ2	4947	genome.wustl.edu	37	chr15	64981338	64981338	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	acatagttcactttcatcttCtcttcagcaaactctagcag	4	12	6	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:64981338C>T	ENST00000326005.6	-	5	616	c.384G>A	c.(382-384)gaG>gaA	p.E128E	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Intron|OAZ2_ENST00000560837.1_5'Flank			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	128					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	CTTTCATCTTCTCTTCAGCAA	0.517																																																	0													43	44	44					15																	64981338		2171	4278	6449	SO:0001819	synonymous_variant	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.384G>A	15.37:g.64981338C>T				Silent	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.E128	ENST00000326005.6	37	c.384	CCDS58372.1	15																																																																																			OAZ2	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	C	NM_002537		64981338	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64981338	C	T	64981338	2	4	101	1	0	0	0	0	0	0	0	1	10829	912	32	1		1	OAZ2	15	64981338	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9142060	64981338	37550054	236	14867										
CYP1A1	1543	genome.wustl.edu	37	chr15	75014035	75014035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgacagtgctcaatcaggctGtctgtgatgtcccggatgtg	13	9	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:75014035G>T	ENST00000379727.3	-	3	1047	c.849C>A	c.(847-849)gaC>gaA	p.D283E	CYP1A1_ENST00000567032.1_Missense_Mutation_p.D283E|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D283E|CYP1A1_ENST00000564596.1_Missense_Mutation_p.D22E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D283E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	283					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CAATCAGGCTGTCTGTGATGT	0.517									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0													173	141	152					15																	75014035		2197	4296	6493	SO:0001583	missense	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.849C>A	15.37:g.75014035G>T	ENSP00000369050:p.Asp283Glu		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D283E	ENST00000379727.3	37	c.849	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941976	0.73557	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	D;D;D	0.82167	-1.58;-1.58;-1.58	5.05	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	M	0.92122	3.275	0.53688	D	0.999975	P;P	0.45768	0.866;0.866	P;P	0.52066	0.689;0.689	D	0.89787	0.3965	10	0.72032	D	0.01	.	9.0945	0.36632	0.2277:0.0:0.7723:0.0	.	283;283	E7EMT5;P04798	.;CP1A1_HUMAN	E	283;283;283;255	ENSP00000369050:D283E;ENSP00000378488:D283E;ENSP00000378489:D283E	ENSP00000268062:D255E	D	-	3	2	CYP1A1	72801088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.446000	0.52928	1.129000	0.42072	0.650000	0.86243	GAC	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP1		0.517	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	G	NM_000499		75014035	-1	no_errors	ENST00000379727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75014035	G	T	75014035	3	4	101	1	0	0	0	0	1	0	0	0	4154	1368	48	4	709	4	CYP1A1	15	75014035	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	10032697	75014035	27517357	237	14868										
ACAN	176	genome.wustl.edu	37	chr15	89381937	89381937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcatcccccaaccgtccccGctgagggtcctcctggggac	11	18	0	1	rs367956651		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:89381937G>A	ENST00000561243.1	+	2	114	c.114G>A	c.(112-114)ccG>ccA	p.P38P	ACAN_ENST00000558207.1_Silent_p.P38P|ACAN_ENST00000559004.1_Silent_p.P38P|ACAN_ENST00000439576.2_Silent_p.P38P|ACAN_ENST00000352105.7_Silent_p.P38P			P16112	PGCA_HUMAN	aggrecan	38	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACCGTCCCCGCTGAGGGTCC	0.622																																																	0								A	,	3,4007		0,3,2002	107	117	114		114,114	-9.9	0	15		114	0,8328		0,0,4164	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	0,3,6166	AA,AG,GG		0.0,0.0748,0.0243	,	38/2432,38/2531	89381937	3,12335	2005	4164	6169	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.114G>A	15.37:g.89381937G>A			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P38	ENST00000561243.1	37	c.114	CCDS53970.1	15																																																																																			ACAN	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89381937	1	no_errors	ENST00000439576	ensembl	human	known	70_37	silent	SNP	0.000	A	A	89381937	G	A	89381937	2	1	101	1	0	0	0	0	0	0	0	1	117	1074	38	2		2	ACAN	15	89381937	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	14367902	89381937	13149455	238	14869										
METTL9	51108	genome.wustl.edu	37	chr16	21629232	21629232	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgttttcaccagatcagtttCagagactgcttaaaattaat	6	7	3	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:21629232C>T	ENST00000358154.3	+	3	661	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	METTL9_ENST00000396014.4_Nonsense_Mutation_p.Q135*	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	135										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		AGATCAGTTTCAGAGACTGCT	0.398																																																	0													152	147	149					16																	21629232		2199	4300	6499	SO:0001587	stop_gained	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.403C>T	16.37:g.21629232C>T	ENSP00000350874:p.Gln135*		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Nonsense_Mutation	SNP	pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11	p.Q135*	ENST00000358154.3	37	c.403	CCDS10598.2	16	.	.	.	.	.	.	.	.	.	.	C	39	7.390260	0.98255	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.17	6.17	0.99709	.	0.099859	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-8.9383	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	135;135;99	.	ENSP00000350874:Q135X	Q	+	1	0	METTL9	21536733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.531000	0.81973	2.941000	0.99782	0.655000	0.94253	CAG	METTL9	-	pfam_DREV_MeTrfase		0.398	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL9	HGNC	protein_coding	OTTHUMT00000254465.1	C	NM_016025		21629232	1	no_errors	ENST00000358154	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	21629232	C	T	21629232	4	4	101	1	0	0	0	0	0	1	0	0	9531	827	29	1	413	1	METTL9	16	21629232	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		21629232	68725521	239	14870										
RBBP6	5930	genome.wustl.edu	37	chr16	24557495	24557495	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tatttacagaatatactgatGataatgctctgattcctaag	6	6	1	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:24557495G>A	ENST00000319715.4	+	2	610	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RBBP6_ENST00000381039.3_Missense_Mutation_p.D60N|RBBP6_ENST00000452655.2_Missense_Mutation_p.D60N|RBBP6_ENST00000348022.2_Missense_Mutation_p.D60N	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	60	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATATACTGATGATAATGCTCT	0.299																																																	0													37	39	38					16																	24557495		2190	4276	6466	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.178G>A	16.37:g.24557495G>A	ENSP00000317872:p.Asp60Asn		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.D60N	ENST00000319715.4	37	c.178	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.754324	0.96890	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	6.08	6.08	0.98989	DWNN domain (2);	0.193384	0.53938	D	0.000052	T	0.80989	0.4730	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.76494	0.99;0.999;0.999;0.997	D;D;D;D	0.66847	0.915;0.913;0.947;0.928	T	0.82971	-0.0192	10	0.87932	D	0	-19.7724	20.6721	0.99693	0.0:0.0:1.0:0.0	.	60;60;60;60	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	N	60	ENSP00000370427:D60N;ENSP00000390537:D60N;ENSP00000317872:D60N;ENSP00000316291:D60N	ENSP00000317872:D60N	D	+	1	0	RBBP6	24464996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.718000	0.98758	2.894000	0.99253	0.591000	0.81541	GAT	RBBP6	-	pfam_DWNN_domain		0.299	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	G	NM_006910		24557495	1	no_errors	ENST00000319715	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24557495	G	A	24557495	3	1	101	1	0	0	0	0	1	0	0	0	13133	1290	45	1	184	1	RBBP6	16	24557495	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2928263	24557495	65797258	240	14871										
CES1	1066	genome.wustl.edu	37	chr16	55862856	55862856	+	Missense_Mutation	SNP	T	T	A													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcactttgccatgcacggtgTccaccacaggtggcgaggac							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:55862856T>A	ENST00000361503.4	-	2	210	c.80A>T	c.(79-81)gAc>gTc	p.D27V	CES1_ENST00000422046.2_Missense_Mutation_p.D27V|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Missense_Mutation_p.D28V			P23141	EST1_HUMAN	carboxylesterase 1	27				DT -> AK (in Ref. 14; AA sequence). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	ATGCACGGTGTCCACCACAGG	0.547																																					NSCLC(162;1801 2756 42904 52896)												0													55	42	46					16																	55862856		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.80A>T	16.37:g.55862856T>A	ENSP00000355193:p.Asp27Val		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.D28V	ENST00000361503.4	37	c.83	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	9.600	1.128427	0.21041	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.67698	-0.28;-0.28;-0.28	4.48	3.36	0.38483	Carboxylesterase, type B (1);	0.263994	0.26734	N	0.022775	T	0.61714	0.2369	L	0.37800	1.135	0.41863	D	0.990232	B;P;B	0.37731	0.358;0.607;0.308	B;P;B	0.46275	0.297;0.51;0.197	T	0.58555	-0.7616	10	0.45353	T	0.12	.	8.7635	0.34689	0.0:0.0:0.3743:0.6256	.	27;27;28	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	28;27;27	ENSP00000353720:D28V;ENSP00000355193:D27V;ENSP00000390492:D27V	ENSP00000353720:D28V	D	-	2	0	CES1	54420357	0.986000	0.35501	0.988000	0.46212	0.406000	0.30931	0.624000	0.24462	0.565000	0.29255	-0.875000	0.02981	GAC	CES1	-	pfam_CarbesteraseB		0.547	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	T	NM_001266		55862856	-1	no_errors	ENST00000360526	ensembl	human	known	70_37	missense	SNP	0.998	A	A	55862856	T	A	55862856	3	1	101	1	0	0	0	0	1	0	0	0	3274	1667	58	5	1675	5	CES1	16	55862856	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	31305361	55862856	34491897	241	14872	80	2								
CES1	1066	genome.wustl.edu	37	chr16	55862859	55862859	+	Missense_Mutation	SNP	A	A	T													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctttgccatgcacggtgtccAccacaggtggcgaggacgga							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:55862859A>T	ENST00000361503.4	-	2	207	c.77T>A	c.(76-78)gTg>gAg	p.V26E	CES1_ENST00000422046.2_Missense_Mutation_p.V26E|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Missense_Mutation_p.V27E			P23141	EST1_HUMAN	carboxylesterase 1	26					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CACGGTGTCCACCACAGGTGG	0.557																																					NSCLC(162;1801 2756 42904 52896)												0													52	40	44					16																	55862859		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.77T>A	16.37:g.55862859A>T	ENSP00000355193:p.Val26Glu		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V27E	ENST00000361503.4	37	c.80	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883565	0.51908	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.74842	-0.88;-0.88;-0.88	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.000000	0.43579	D	0.000556	D	0.89515	0.6737	H	0.96398	3.815	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.91486	0.5208	10	0.56958	D	0.05	.	11.7557	0.51874	1.0:0.0:0.0:0.0	.	26;26;27	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	E	27;26;26	ENSP00000353720:V27E;ENSP00000355193:V26E;ENSP00000390492:V26E	ENSP00000353720:V27E	V	-	2	0	CES1	54420360	1.000000	0.71417	0.998000	0.56505	0.424000	0.31475	5.410000	0.66381	1.666000	0.50821	0.324000	0.21423	GTG	CES1	-	pfam_CarbesteraseB		0.557	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	A	NM_001266		55862859	-1	no_errors	ENST00000360526	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55862859	A	T	55862859	3	4	101	1	0	0	0	0	1	0	0	0	3274	159	6	5	1678	5	CES1	16	55862859	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	3	55862859	34491894	242	14873	80	2								
PLEKHG4	25894	genome.wustl.edu	37	chr16	67315956	67315956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgccaggcagcttgtgccctGctccagggggccatcgaaag	14	13	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:67315956G>A	ENST00000360461.5	+	7	3585	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	PLEKHG4_ENST00000379344.3_Silent_p.L350L|PLEKHG4_ENST00000450733.1_Silent_p.L269L|PLEKHG4_ENST00000427155.2_Silent_p.L350L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	350							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CTTGTGCCCTGCTCCAGGGGG	0.627																																																	0													56	56	56					16																	67315956		2198	4300	6498	SO:0001819	synonymous_variant	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1050G>A	16.37:g.67315956G>A			Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L350	ENST00000360461.5	37	c.1050	CCDS32466.1	16																																																																																			PLEKHG4	-	NULL		0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	G	NM_015432		67315956	1	no_errors	ENST00000360461	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67315956	G	A	67315956	2	1	101	1	0	0	0	0	0	0	0	1	12095	1306	46	4		4	PLEKHG4	16	67315956	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	11453097	67315956	23038797	243	14874										
COG4	25839	genome.wustl.edu	37	chr16	70530310	70530310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtggtggcaggaaagcccatCcgcagcttattacacagaac	11	11	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:70530310C>T	ENST00000323786.5	-	12	1527	c.1506G>A	c.(1504-1506)cgG>cgA	p.R502R		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	498					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GAAAGCCCATCCGCAGCTTAT	0.552																																																	0													99	80	87					16																	70530310		2198	4300	6498	SO:0001819	synonymous_variant	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1506G>A	16.37:g.70530310C>T			B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.R502	ENST00000323786.5	37	c.1506	CCDS10892.2	16																																																																																			COG4	-	pfam_COG_su4,smart_COG_su4		0.552	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3	C			70530310	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	silent	SNP	0.987	T	T	70530310	C	T	70530310	2	4	101	1	0	0	0	0	0	0	0	1	3665	842	30	1		1	COG4	16	70530310	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3214354	70530310	19824443	244	14875										
PLCG2	5336	genome.wustl.edu	37	chr16	81990342	81990342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cctcctgtcgccagctgaggAggcggcaagaagaactgaac	13	12	0	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:81990342A>G	ENST00000359376.3	+	32	3827	c.3613A>G	c.(3613-3615)Agg>Ggg	p.R1205G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1205					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAGCTGAGGAGGCGGCAAGA	0.507																																																	0													75	78	77					16																	81990342		1999	4160	6159	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3613A>G	16.37:g.81990342A>G	ENSP00000352336:p.Arg1205Gly		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.R1205G	ENST00000359376.3	37	c.3613	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276086	0.40294	.	.	ENSG00000197943	ENST00000359376	T	0.67171	-0.25	5.56	4.46	0.54185	.	0.090906	0.85682	D	0.000000	T	0.45337	0.1337	N	0.08118	0	0.29368	N	0.864186	B	0.26672	0.156	B	0.24541	0.054	T	0.45702	-0.9243	10	0.52906	T	0.07	.	10.8879	0.46978	0.6996:0.3004:0.0:0.0	.	1205	P16885	PLCG2_HUMAN	G	1205	ENSP00000352336:R1205G	ENSP00000352336:R1205G	R	+	1	2	PLCG2	80547843	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.288000	0.33296	0.924000	0.37069	-0.440000	0.05779	AGG	PLCG2	-	pirsf_PLC-gamma		0.507	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	A			81990342	1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81990342	A	G	81990342	3	3	101	1	0	0	0	0	1	0	0	0	12060	295	11	5	3735	5	PLCG2	16	81990342	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	11460032	81990342	8364411	245	14876										
ANKRD11	29123	genome.wustl.edu	37	chr16	89349405	89349405	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctcggtcctttctcctgtctCtgggctccttgtccttctgc	8	16	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:89349405C>T	ENST00000301030.4	-	9	4005	c.3545G>A	c.(3544-3546)aGa>aAa	p.R1182K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1182K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1182	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTCCTGTCTCTGGGCTCCTT	0.542																																																	0													69	76	74					16																	89349405		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3545G>A	16.37:g.89349405C>T	ENSP00000301030:p.Arg1182Lys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1182K	ENST00000301030.4	37	c.3545	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869557	0.00547	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.25085	1.82;1.82	4.8	-4.41	0.03590	.	0.505367	0.17693	N	0.165213	T	0.06690	0.0171	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.02654	T	1	.	11.9173	0.52774	0.0:0.5223:0.0:0.4777	.	1182	Q6UB99	ANR11_HUMAN	K	1182	ENSP00000301030:R1182K;ENSP00000367581:R1182K	ENSP00000301030:R1182K	R	-	2	0	ANKRD11	87876906	0.989000	0.36119	0.000000	0.03702	0.002000	0.02628	2.165000	0.42396	-1.074000	0.03132	-1.149000	0.01842	AGA	ANKRD11	-	NULL		0.542	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	C	NM_013275		89349405	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	missense	SNP	0.023	T	T	89349405	C	T	89349405	3	4	101	1	0	0	0	0	1	0	0	0	639	913	32	1	4466	1	ANKRD11	16	89349405	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	7359063	89349405	1005348	246	14877										
GEMIN4	50628	genome.wustl.edu	37	chr17	649191	649191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gagctggcacaagctgaagaGgagtggaaacggggagcagg	19	6	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:649191G>T	ENST00000319004.5	-	2	2210	c.2092C>A	c.(2092-2094)Ctc>Atc	p.L698I	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L687I	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	698					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGCTGAAGAGGAGTGGAAAC	0.542																																																	0													32	34	33					17																	649191		1957	4149	6106	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2092C>A	17.37:g.649191G>T	ENSP00000321706:p.Leu698Ile		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.L698I	ENST00000319004.5	37	c.2092	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	G	8.250	0.808712	0.16467	.	.	ENSG00000179409	ENST00000319004	T	0.08370	3.1	5.56	-1.97	0.07503	.	0.280120	0.33515	N	0.004840	T	0.03915	0.0110	N	0.10685	0.025	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.43877	-0.9364	10	0.25751	T	0.34	-4.3379	12.5458	0.56199	0.0:0.0742:0.6021:0.3237	.	698	P57678	GEMI4_HUMAN	I	698	ENSP00000321706:L698I	ENSP00000321706:L698I	L	-	1	0	GEMIN4	595941	1.000000	0.71417	0.979000	0.43373	0.846000	0.48090	0.514000	0.22786	-0.262000	0.09392	-0.271000	0.10264	CTC	GEMIN4	-	NULL		0.542	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		649191	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	missense	SNP	0.915	T	T	649191	G	T	649191	3	4	101	1	0	0	0	0	1	0	0	0	6349	1000	35	4	1088	4	GEMIN4	17	649191	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09		649191	80546019	247	14878										
TP53	7157	genome.wustl.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttggccagttggcaaaacatCttgttgagggcaggggagta	15	6	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)											47	48	48					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.K132N	ENST00000269305.4	37	c.396	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7578534	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7578534	C	G	7578534	3	3	101	1	0	0	0	0	1	0	0	0	16412	912	32	1	902	1	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	6929343	7578534	73616676	248	14879										
MYH8	4626	genome.wustl.edu	37	chr17	10302917	10302917	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtcattgatcagccgctgctGctcctcttccttggtcttaa	8	13	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:10302917G>A	ENST00000403437.2	-	28	3899	c.3805C>T	c.(3805-3807)Cag>Tag	p.Q1269*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1269					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCCGCTGCTGCTCCTCTTCC	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													142	130	134					17																	10302917		2203	4300	6503	SO:0001587	stop_gained	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3805C>T	17.37:g.10302917G>A	ENSP00000384330:p.Gln1269*		Q14910	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1269*	ENST00000403437.2	37	c.3805	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.362211	0.99148	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.38	4.39	0.52855	.	0.183571	0.26258	U	0.025405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.4802	0.75521	0.0:0.0:0.8605:0.1395	.	.	.	.	X	1269	.	ENSP00000252173:Q1269X	Q	-	1	0	MYH8	10243642	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.476000	0.22180	1.467000	0.48044	0.655000	0.94253	CAG	MYH8	-	pfam_Myosin_tail,superfamily_Prefoldin		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10302917	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10302917	G	A	10302917	4	1	101	1	0	0	0	0	0	1	0	0	10064	1328	46	4	2060	4	MYH8	17	10302917	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2724383	10302917	70892293	249	14880										
KRT28	162605	genome.wustl.edu	37	chr17	38950145	38950145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttccaagtggaccttgacatCgaggagatgctcatactcca	9	11	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:38950145C>G	ENST00000306658.7	-	6	1197	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ACCTTGACATCGAGGAGATGC	0.522																																					Melanoma(19;789 869 15380 26882 39836)												0													154	148	150					17																	38950145		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1132G>C	17.37:g.38950145C>G	ENSP00000305263:p.Asp378His			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D378H	ENST00000306658.7	37	c.1132	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561780	0.27915	.	.	ENSG00000173908	ENST00000306658	D	0.91577	-2.87	5.7	4.73	0.59995	Filament (1);	0.180271	0.39083	N	0.001463	D	0.95345	0.8489	M	0.91196	3.185	0.24904	N	0.992085	D	0.53462	0.96	P	0.58391	0.838	D	0.90635	0.4570	10	0.72032	D	0.01	.	14.1372	0.65295	0.0:0.9278:0.0:0.0722	.	378	Q7Z3Y7	K1C28_HUMAN	H	378	ENSP00000305263:D378H	ENSP00000305263:D378H	D	-	1	0	KRT28	36203671	0.904000	0.30761	0.015000	0.15790	0.001000	0.01503	2.172000	0.42463	1.549000	0.49425	-0.145000	0.13849	GAT	KRT28	-	pfam_F		0.522	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950145	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.378	G	G	38950145	C	G	38950145	3	3	101	1	0	0	0	0	1	0	0	0	8485	884	31	1	274	1	KRT28	17	38950145	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	28647228	38950145	42245065	250	14881										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40839792	40839792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgcaccctatcaacttcggaGgccctcacaacttcgttcaa	6	16	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:40839792G>T	ENST00000264638.4	+	8	1316	c.1099G>T	c.(1099-1101)Ggc>Tgc	p.G367C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	367					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAACTTCGGAGGCCCTCACAA	0.602																																																	0													129	113	118					17																	40839792		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1099G>T	17.37:g.40839792G>T	ENSP00000264638:p.Gly367Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G367C	ENST00000264638.4	37	c.1099	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585172	0.86748	.	.	ENSG00000108797	ENST00000264638	D	0.83506	-1.73	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000001	D	0.89525	0.6740	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	D	0.90409	0.4408	10	0.72032	D	0.01	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	367	P78357	CNTP1_HUMAN	C	367	ENSP00000264638:G367C	ENSP00000264638:G367C	G	+	1	0	CNTNAP1	38093318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.415000	0.97375	2.405000	0.81733	0.655000	0.94253	GGC	CNTNAP1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.602	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40839792	1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40839792	G	T	40839792	3	4	101	1	0	0	0	0	1	0	0	0	3651	1000	35	4	1129	4	CNTNAP1	17	40839792	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1889647	40839792	40355418	251	14882										
PLCD3	113026	genome.wustl.edu	37	chr17	43197701	43197701	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cggaagcccaccttgaagagGaggtaggcgtacatgtcgtt	14	9	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:43197701G>T	ENST00000322765.5	-	4	788	c.675C>A	c.(673-675)ctC>ctA	p.L225L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	225	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCTTGAAGAGGAGGTAGGCGT	0.587																																																	0													112	123	119					17																	43197701		2180	4277	6457	SO:0001819	synonymous_variant	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.675C>A	17.37:g.43197701G>T			Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L225	ENST00000322765.5	37	c.675		17																																																																																			PLCD3	-	NULL		0.587	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		G	NM_133373		43197701	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	silent	SNP	0.524	T	T	43197701	G	T	43197701	2	4	101	1	0	0	0	0	0	0	0	1	12056	1161	41	3		3	PLCD3	17	43197701	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2357909	43197701	37997509	252	14883										
SP6	80320	genome.wustl.edu	37	chr17	45924697	45924697	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agccacgctgccctcggcctCgcgtttgcctttgcccccgg	11	19	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:45924697C>G	ENST00000536300.1	-	2	1430	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	SP6_ENST00000342234.2_Missense_Mutation_p.E367Q	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	367					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCTCGGCCTCGCGTTTGCCT	0.731																																																	0													7	10	9					17																	45924697		2143	4204	6347	SO:0001583	missense	80320				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.1099G>C	17.37:g.45924697C>G	ENSP00000438209:p.Glu367Gln		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E367Q	ENST00000536300.1	37	c.1099	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885862	0.33348	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08193	3.12;3.12	4.4	3.43	0.39272	.	0.000000	0.43919	D	0.000511	T	0.04861	0.0131	N	0.08118	0	0.09310	N	0.999999	B	0.16166	0.016	B	0.17979	0.02	T	0.35475	-0.9787	10	0.48119	T	0.1	.	11.312	0.49368	0.0:0.9088:0.0:0.0912	.	367	Q3SY56	SP6_HUMAN	Q	367	ENSP00000340799:E367Q;ENSP00000438209:E367Q	ENSP00000340799:E367Q	E	-	1	0	SP6	43279696	0.990000	0.36364	0.726000	0.30738	0.245000	0.25701	2.799000	0.47892	1.058000	0.40530	0.462000	0.41574	GAG	SP6	-	NULL		0.731	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	C	NM_199262		45924697	-1	no_errors	ENST00000342234	ensembl	human	known	70_37	missense	SNP	0.278	G	G	45924697	C	G	45924697	3	3	101	1	0	0	0	0	1	0	0	0	14998	893	31	1	35	1	SP6	17	45924697	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2726996	45924697	35270513	253	14884										
NFE2L1	4779	genome.wustl.edu	37	chr17	46135813	46135813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gctgcagccaggacttcttaCtcttcagccccgaggtggaa	11	13	3	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:46135813C>T	ENST00000362042.3	+	6	1745	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	NFE2L1_ENST00000536222.1_Missense_Mutation_p.L221F|NFE2L1_ENST00000585291.1_Missense_Mutation_p.L347F|NFE2L1_ENST00000357480.5_Missense_Mutation_p.L347F|NFE2L1_ENST00000583378.1_Missense_Mutation_p.L178F|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Missense_Mutation_p.L366F|NFE2L1_ENST00000582155.1_Missense_Mutation_p.L189F	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	377					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.L377V(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGACTTCTTACTCTTCAGCCC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											94	97	96					17																	46135813		2203	4300	6503	SO:0001583	missense	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1129C>T	17.37:g.46135813C>T	ENSP00000354855:p.Leu377Phe		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L377F	ENST00000362042.3	37	c.1129	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141091	0.21205	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;D;D	0.95949	2.94;-3.86;-3.86	5.65	5.65	0.86999	.	0.419839	0.26149	N	0.026049	D	0.96522	0.8865	L	0.50333	1.59	0.53005	D	0.999965	D;D;D;D	0.62365	0.989;0.986;0.986;0.991	P;P;P;P	0.62382	0.84;0.809;0.775;0.901	D	0.96053	0.9033	10	0.45353	T	0.12	-39.9864	18.4922	0.90852	0.0:1.0:0.0:0.0	.	221;189;347;377	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	F	396;377;347;221	ENSP00000354855:L396F;ENSP00000350072:L347F;ENSP00000445811:L221F	ENSP00000350072:L347F	L	+	1	0	NFE2L1	43490812	0.969000	0.33509	0.963000	0.40424	0.984000	0.73092	2.131000	0.42074	2.661000	0.90470	0.655000	0.94253	CTC	NFE2L1	-	NULL		0.612	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	C	NM_003204		46135813	1	no_errors	ENST00000362042	ensembl	human	known	70_37	missense	SNP	0.999	T	T	46135813	C	T	46135813	3	4	101	1	0	0	0	0	1	0	0	0	10391	565	20	4	1147	4	NFE2L1	17	46135813	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	211116	46135813	35059397	254	14885										
HOXB3	3213	genome.wustl.edu	37	chr17	46627737	46627737	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgcttcttggattctaccctGaggaggaggcgcgtggtgag	16	9	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:46627737G>A	ENST00000470495.1	-	2	2702	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	HOXB3_ENST00000490677.1_Nonsense_Mutation_p.Q285*|HOXB3_ENST00000311626.4_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000472863.1_Nonsense_Mutation_p.Q346*|HOXB3_ENST00000476342.1_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000489475.1_Nonsense_Mutation_p.Q346*|HOXB3_ENST00000485909.2_Nonsense_Mutation_p.Q287*|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000460160.1_Nonsense_Mutation_p.Q287*|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA			P14651	HXB3_HUMAN	homeobox B3	419					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTACCCTGAGGAGGAGGC	0.612											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76	87	83					17																	46627737		2202	4300	6502	SO:0001587	stop_gained	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.1255C>T	17.37:g.46627737G>A	ENSP00000417207:p.Gln419*	940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q419*	ENST00000470495.1	37	c.1255	CCDS11528.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.117751	0.97300	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8711	0.86041	0.0:0.0:1.0:0.0	.	.	.	.	X	419;346;419;419;285;287;287;346;419	.	ENSP00000308252:Q419X	Q	-	1	0	HOXB3	43982736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.103000	0.94232	2.289000	0.77006	0.561000	0.74099	CAG	HOXB3	-	NULL		0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	G			46627737	-1	no_errors	ENST00000311626	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46627737	G	A	46627737	4	1	101	1	0	0	0	0	0	1	0	0	7322	1299	45	1	44	1	HOXB3	17	46627737	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	491924	46627737	34567473	255	14886										
PHOSPHO1	162466	genome.wustl.edu	37	chr17	47301946	47301946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cggccgcagagccagcagtcCccgcgcatccggccccgacg	13	20	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:47301946C>T	ENST00000310544.4	-	3	593	c.466G>A	c.(466-468)Gga>Aga	p.G156R	PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.G181R|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181R			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	156					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GCCAGCAGTCCCCGCGCATCC	0.701																																																	0													8	9	8					17																	47301946		2173	4242	6415	SO:0001583	missense	162466			AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.466G>A	17.37:g.47301946C>T	ENSP00000311925:p.Gly156Arg		E9PAM0|Q17RU6	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.G181R	ENST00000310544.4	37	c.541	CCDS11547.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.286954	0.95517	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.38	5.38	0.77491	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87509	0.6195	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89504	0.3766	10	0.62326	D	0.03	.	18.7238	0.91705	0.0:1.0:0.0:0.0	.	156;181	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	R	156;181;181;156	ENSP00000311925:G156R;ENSP00000406909:G181R;ENSP00000427694:G181R;ENSP00000426095:G156R	ENSP00000311925:G156R	G	-	1	0	PHOSPHO1	44656945	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.292000	0.78731	2.510000	0.84645	0.462000	0.41574	GGA	PHOSPHO1	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.701	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO1	HGNC	protein_coding	OTTHUMT00000364467.2	C			47301946	-1	no_errors	ENST00000413580	ensembl	human	known	70_37	missense	SNP	0.999	T	T	47301946	C	T	47301946	3	4	101	1	0	0	0	0	1	0	0	0	11880	632	22	4	341	4	PHOSPHO1	17	47301946	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	674209	47301946	33893264	256	14887										
CACNA1G	8913	genome.wustl.edu	37	chr17	48653074	48653074	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agctgctatgaggagctgctCaagtacctggtgtacatcct	11	10	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:48653074C>G	ENST00000359106.5	+	8	1311	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	CACNA1G_ENST00000515765.1_Silent_p.L437L|CACNA1G_ENST00000515165.1_Silent_p.L437L|CACNA1G_ENST00000510366.1_Silent_p.L437L|CACNA1G_ENST00000416767.4_Silent_p.L437L|CACNA1G_ENST00000352832.5_Silent_p.L437L|CACNA1G_ENST00000513689.2_Silent_p.L437L|CACNA1G_ENST00000507609.1_Silent_p.L437L|CACNA1G_ENST00000514181.1_Silent_p.L437L|CACNA1G_ENST00000512389.1_Silent_p.L437L|CACNA1G_ENST00000354983.4_Silent_p.L437L|CACNA1G_ENST00000358244.5_Silent_p.L437L|CACNA1G_ENST00000442258.2_Silent_p.L437L|CACNA1G_ENST00000513964.1_Silent_p.L437L|CACNA1G_ENST00000429973.2_Silent_p.L437L|CACNA1G_ENST00000507896.1_Silent_p.L437L|CACNA1G_ENST00000514079.1_Silent_p.L437L|CACNA1G_ENST00000514717.1_Silent_p.L437L|CACNA1G_ENST00000510115.1_Silent_p.L437L|CACNA1G_ENST00000507510.2_Silent_p.L437L|CACNA1G_ENST00000502264.1_Silent_p.L437L|CACNA1G_ENST00000515411.1_Silent_p.L437L|CACNA1G_ENST00000507336.1_Silent_p.L437L|CACNA1G_ENST00000360761.4_Silent_p.L437L|CACNA1G_ENST00000505165.1_Silent_p.L437L|CACNA1G_ENST00000503485.1_Silent_p.L437L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	437					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGAGCTGCTCAAGTACCTGG	0.647																																																	0													19	22	21					17																	48653074		2089	4218	6307	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1311C>G	17.37:g.48653074C>G			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L437	ENST00000359106.5	37	c.1311	CCDS45730.1	17																																																																																			CACNA1G	-	prints_VDCC_T_a1su		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	C	NM_018896		48653074	1	no_errors	ENST00000359106	ensembl	human	known	70_37	silent	SNP	1.000	G	G	48653074	C	G	48653074	2	3	101	1	0	0	0	0	0	0	0	1	2549	813	29	1		1	CACNA1G	17	48653074	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1351128	48653074	32542136	257	14888										
BRIP1	83990	genome.wustl.edu	37	chr17	59760977	59760977	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agctaggtcatttttttcttCatctgtatcttcaggatcat	6	8	7	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:59760977C>T	ENST00000259008.2	-	20	3697	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1144					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTTTTTCTTCATCTGTATCT	0.308			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													63	64	64					17																	59760977		2203	4299	6502	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3430G>A	17.37:g.59760977C>T	ENSP00000259008:p.Glu1144Lys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E1144K	ENST00000259008.2	37	c.3430	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232420	0.39498	.	.	ENSG00000136492	ENST00000259008	T	0.78595	-1.19	5.6	3.6	0.41247	.	0.306848	0.28072	N	0.016705	T	0.64549	0.2608	L	0.32530	0.975	0.80722	D	1	B	0.18310	0.027	B	0.15052	0.012	T	0.58222	-0.7674	9	.	.	.	-15.3796	10.4338	0.44424	0.0:0.8373:0.0:0.1627	.	1144	Q9BX63	FANCJ_HUMAN	K	1144	ENSP00000259008:E1144K	.	E	-	1	0	BRIP1	57115759	1.000000	0.71417	0.982000	0.44146	0.474000	0.32979	1.646000	0.37249	1.504000	0.48704	0.563000	0.77884	GAA	BRIP1	-	NULL		0.308	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59760977	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	0.967	T	T	59760977	C	T	59760977	3	4	101	1	0	0	0	0	1	0	0	0	1517	835	29	1	323	1	BRIP1	17	59760977	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	11107903	59760977	21434233	258	14889										
CD79B	974	genome.wustl.edu	37	chr17	62007658	62007658	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agctcacattgccggaggcgCtgttcatgtagcagtgcatt	12	10	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:62007658C>G	ENST00000006750.3	-	3	298	c.206G>C	c.(205-207)aGc>aCc	p.S69T	CD79B_ENST00000392795.3_Missense_Mutation_p.S70T|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	69	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						GCCGGAGGCGCTGTTCATGTA	0.567			"Mis, O"		DLBCL																																			Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	0													93	80	85					17																	62007658		2203	4300	6503	SO:0001583	missense	974			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.206G>C	17.37:g.62007658C>G	ENSP00000006750:p.Ser69Thr		Q53FS2|Q9BU06	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like	p.S70T	ENST00000006750.3	37	c.209	CCDS11655.1	17	.	.	.	.	.	.	.	.	.	.	C	8.041	0.763948	0.15914	.	.	ENSG00000007312	ENST00000392795;ENST00000006750	T;T	0.76839	-1.05;-1.05	5.71	-7.26	0.01466	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.213480	0.01275	N	0.009570	T	0.63698	0.2533	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	10	0.15499	T	0.54	-0.3052	2.0495	0.03567	0.1241:0.1525:0.3269:0.3964	.	69	P40259	CD79B_HUMAN	T	70;69	ENSP00000376544:S70T;ENSP00000006750:S69T	ENSP00000006750:S69T	S	-	2	0	CD79B	59361390	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.313000	0.19415	-0.751000	0.04734	0.561000	0.74099	AGC	CD79B	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like		0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79B	HGNC	protein_coding	OTTHUMT00000417711.1	C			62007658	-1	no_errors	ENST00000392795	ensembl	human	known	70_37	missense	SNP	0.000	G	G	62007658	C	G	62007658	3	3	101	1	0	0	0	0	1	0	0	0	3042	797	28	4	499	4	CD79B	17	62007658	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2246681	62007658	19187552	259	14890										
ABCA10	10349	genome.wustl.edu	37	chr17	67149465	67149465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccacatttgctgctgcccctCggggtccatcccggtgaacg	11	16	0	1	rs201375015		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:67149465C>T	ENST00000269081.4	-	35	5026	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1373	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGCTGCCCCTCGGGGTCCATC	0.478																																																	0								C	LYS/GLU	0,4406		0,0,2203	94	98	96		4117	-1.1	0	17		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA10	NM_080282.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1373/1544	67149465	1,13005	2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4117G>A	17.37:g.67149465C>T	ENSP00000269081:p.Glu1373Lys		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1373K	ENST00000269081.4	37	c.4117	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.200317	0.00296	0.0	1.16E-4	ENSG00000154263	ENST00000269081	D	0.96365	-3.99	3.34	-1.12	0.09808	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.85177	0.5637	N	0.04297	-0.235	0.09310	N	0.999999	B;B	0.32968	0.019;0.392	B;B	0.21708	0.007;0.036	T	0.77710	-0.2486	9	0.07482	T	0.82	.	9.0366	0.36291	0.0:0.3999:0.0:0.6001	.	365;1373	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	K	1373	ENSP00000269081:E1373K	ENSP00000269081:E1373K	E	-	1	0	ABCA10	64661060	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.373000	0.20484	-0.460000	0.07003	-1.012000	0.02466	GAG	ABCA10	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.478	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67149465	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	0.001	T	T	67149465	C	T	67149465	3	4	101	1	0	0	0	0	1	0	0	0	29	893	31	1	538	1	ABCA10	17	67149465	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	5141807	67149465	14045745	260	14891										
KIF19	124602	genome.wustl.edu	37	chr17	72350665	72350665	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaggcaaagagaaggaagcgGaggtcccgatccttcgaggt	16	8	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:72350665G>T	ENST00000389916.4	+	18	2811	c.2673G>T	c.(2671-2673)cgG>cgT	p.R891R	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	891					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGGAAGCGGAGGTCCCGAT	0.642																																																	0													15	19	18					17																	72350665		2009	4128	6137	SO:0001819	synonymous_variant	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2673G>T	17.37:g.72350665G>T			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R891	ENST00000389916.4	37	c.2673	CCDS32718.2	17																																																																																			KIF19	-	NULL		0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	G	NM_153209		72350665	1	no_errors	ENST00000389916	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72350665	G	T	72350665	2	4	101	1	0	0	0	0	0	0	0	1	8302	1161	41	3		3	KIF19	17	72350665	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5201200	72350665	8844545	261	14892										
TNRC6C	57690	genome.wustl.edu	37	chr17	76046332	76046332	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cttctggaactacagcaagtGaaggaagtagtgatggttct	12	6	2	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:76046332G>A	ENST00000588061.1	+	5	1916	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	TNRC6C_ENST00000588847.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000335749.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E397K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	397	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E397K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACAGCAAGTGAAGGAAGTAG	0.532																																																	2	Substitution - Missense(2)	kidney(2)											68	69	68					17																	76046332		1981	4179	6160	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1189G>A	17.37:g.76046332G>A	ENSP00000468647:p.Glu397Lys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E397K	ENST00000588061.1	37	c.1189	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192819	0.58017	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.3	5.3	0.74995	.	0.250251	0.34156	N	0.004214	T	0.28699	0.0711	M	0.65498	2.005	0.58432	D	0.999999	P;P;P	0.44429	0.763;0.835;0.682	B;P;B	0.48334	0.163;0.574;0.141	T	0.02371	-1.1169	10	0.13108	T	0.6	-4.9224	19.1532	0.93499	0.0:0.0:1.0:0.0	.	397;397;397	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	397	ENSP00000336783:E397K;ENSP00000301624:E397K;ENSP00000440310:E397K;ENSP00000442421:E397K	ENSP00000301624:E397K	E	+	1	0	TNRC6C	73557927	1.000000	0.71417	0.806000	0.32338	0.972000	0.66771	9.181000	0.94874	2.769000	0.95229	0.655000	0.94253	GAA	TNRC6C	-	NULL		0.532	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	G	NM_018996		76046332	1	no_errors	ENST00000335749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76046332	G	A	76046332	3	1	101	1	0	0	0	0	1	0	0	0	16372	1291	45	1	1191	1	TNRC6C	17	76046332	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	3695667	76046332	5148878	262	14893										
DNAH17	8632	genome.wustl.edu	37	chr17	76490185	76490185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggacctgcagcagctcctccAgctgcaccaccttcagcacg	9	18	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:76490185A>C	ENST00000585328.1	-	41	6450	c.6326T>G	c.(6325-6327)cTg>cGg	p.L2109R	RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.L2100R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2100	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			CAGCTCCTCCAGCTGCACCAC	0.617																																																	0													35	41	39					17																	76490185		2183	4278	6461	SO:0001583	missense	8632			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.6326T>G	17.37:g.76490185A>C	ENSP00000465516:p.Leu2109Arg		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L2100R	ENST00000585328.1	37	c.6299		17	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479411	0.84747	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.47177	0.85	4.4	4.4	0.53042	.	.	.	.	.	T	0.82199	0.4985	H	0.99752	4.75	0.45318	D	0.998313	.	.	.	.	.	.	D	0.89870	0.4022	7	0.87932	D	0	.	13.7993	0.63190	1.0:0.0:0.0:0.0	.	.	.	.	R	2109;2100	ENSP00000374490:L2100R	ENSP00000300671:L2109R	L	-	2	0	DNAH17	74001780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.819000	0.91997	1.837000	0.53436	0.459000	0.35465	CTG	DNAH17	-	NULL		0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	A	NM_173628		76490185	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76490185	A	C	76490185	3	2	101	1	0	0	0	0	1	0	0	0	4611	188	7	5	7211	5	DNAH17	17	76490185	Missense_Mutation	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	443853	76490185	4705025	263	14894										
SMCHD1	23347	genome.wustl.edu	37	chr18	2762231	2762231	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agagatctacatcttagtatCacggtaatgtttattttctt	6	6	4	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:2762231C>G	ENST00000320876.6	+	36	4901	c.4563C>G	c.(4561-4563)atC>atG	p.I1521M	SMCHD1_ENST00000261598.8_Missense_Mutation_p.I1521M|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1521					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATCTTAGTATCACGGTAATGT	0.358																																																	0													149	138	141					18																	2762231		1847	4083	5930	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4563C>G	18.37:g.2762231C>G	ENSP00000326603:p.Ile1521Met		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.I1521M	ENST00000320876.6	37	c.4563	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667676	0.29604	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.29397	1.59;1.57	5.58	-0.454	0.12197	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.67953	2.075	0.80722	D	1	B	0.22909	0.077	B	0.34180	0.177	T	0.13872	-1.0493	10	0.87932	D	0	-5.1648	5.9537	0.19261	0.1557:0.3393:0.0:0.505	.	1521	A6NHR9	SMHD1_HUMAN	M	1521	ENSP00000326603:I1521M;ENSP00000261598:I1521M	ENSP00000261598:I1521M	I	+	3	3	SMCHD1	2752231	0.991000	0.36638	0.983000	0.44433	0.958000	0.62258	0.154000	0.16343	0.039000	0.15632	0.650000	0.86243	ATC	SMCHD1	-	NULL		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2762231	1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	0.920	G	G	2762231	C	G	2762231	3	3	101	1	0	0	0	0	1	0	0	0	14818	816	29	1	4705	1	SMCHD1	18	2762231	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		2762231	75315017	264	14895										
CEP192	55125	genome.wustl.edu	37	chr18	13049854	13049854	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacgtcaccactgagtcattCttctcctagtgaaatttctg	6	12	5	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:13049854C>G	ENST00000325971.8	+	15	2786	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C	CEP192_ENST00000506447.1_Missense_Mutation_p.S994C|CEP192_ENST00000430049.2_Missense_Mutation_p.S519C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	398					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGAGTCATTCTTCTCCTAGT	0.408																																																	0													102	98	99					18																	13049854		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1193C>G	18.37:g.13049854C>G	ENSP00000317156:p.Ser398Cys		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.S994C	ENST00000325971.8	37	c.2981		18	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068095	0.76301	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.79454	-1.27;-1.27;-1.27	5.55	4.68	0.58851	.	0.100168	0.44902	D	0.000405	D	0.86226	0.5882	M	0.66939	2.045	0.50467	D	0.99987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.991;0.998	D	0.87699	0.2559	10	0.87932	D	0	-14.0833	13.795	0.63166	0.0:0.9263:0.0:0.0737	.	519;994;398	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	C	994;398;398;519	ENSP00000427550:S994C;ENSP00000317156:S398C;ENSP00000389190:S519C	ENSP00000317156:S398C	S	+	2	0	CEP192	13039854	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.162000	0.64942	1.487000	0.48415	0.650000	0.86243	TCT	CEP192	-	NULL		0.408	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13049854	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13049854	C	G	13049854	3	3	101	1	0	0	0	0	1	0	0	0	3256	913	32	1	3043	1	CEP192	18	13049854	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	10287623	13049854	65027394	265	14896										
ZNF519	162655	genome.wustl.edu	37	chr18	14105614	14105614	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agtatggattctctgatgttGagcaaggtgtgaactcttgt	12	5	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:14105614G>A	ENST00000590202.1	-	3	1077	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	309					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCTGATGTTGAGCAAGGTGT	0.398																																																	0													72	74	73					18																	14105614		2203	4300	6503	SO:0001587	stop_gained	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.925C>T	18.37:g.14105614G>A	ENSP00000464872:p.Gln309*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q309*	ENST00000590202.1	37	c.925	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894895	0.72639	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2676	0.20936	0.0:0.3979:0.6021:0.0	.	.	.	.	X	309	.	ENSP00000307908:Q309X	Q	-	1	0	ZNF519	14095614	0.000000	0.05858	0.455000	0.27031	0.539000	0.34962	-6.219000	0.00075	-0.563000	0.06078	0.089000	0.15464	CAA	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	G	NM_145287		14105614	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	nonsense	SNP	0.011	A	A	14105614	G	A	14105614	4	1	101	1	0	0	0	0	0	1	0	0	17994	1299	45	1	701	1	ZNF519	18	14105614	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1055760	14105614	63971634	266	14897										
ANKRD30B	374860	genome.wustl.edu	37	chr18	14851937	14851937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caggagatgctcctttgcaaGgaataatgaatgttgatgtg	12	5	0	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:14851937G>A	ENST00000358984.4	+	36	3817	c.3637G>A	c.(3637-3639)Gga>Aga	p.G1213R		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1213										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCCTTTGCAAGGAATAATGAA	0.378																																																	0													44	33	36					18																	14851937		692	1590	2282	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3637G>A	18.37:g.14851937G>A	ENSP00000351875:p.Gly1213Arg		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1213R	ENST00000358984.4	37	c.3637	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.502905	0.04261	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14640	2.49	1.39	1.39	0.22231	.	.	.	.	.	T	0.09113	0.0225	N	0.19112	0.55	0.80722	D	1	P;D	0.58268	0.91;0.982	B;P	0.44623	0.198;0.455	T	0.31138	-0.9954	9	0.32370	T	0.25	.	8.7313	0.34501	0.0:0.0:1.0:0.0	.	1298;1213	Q9BXX2;F8WAG3	AN30B_HUMAN;.	R	1213;607;633	ENSP00000351875:G1213R	ENSP00000277669:G633R	G	+	1	0	ANKRD30B	14841937	1.000000	0.71417	0.423000	0.26634	0.042000	0.13812	3.713000	0.54882	1.076000	0.40961	0.173000	0.16961	GGA	ANKRD30B	-	NULL		0.378	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	G	NM_001145029		14851937	1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.991	A	A	14851937	G	A	14851937	3	1	101	1	0	0	0	0	1	0	0	0	659	1001	35	4	3779	4	ANKRD30B	18	14851937	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	746323	14851937	63225311	267	14898										
KIAA1012	22878	genome.wustl.edu	37	chr18	29446845	29446845	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gggaagagcaccaatgccatCtactgtcatagagccctgaa	10	11	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:29446845C>G	ENST00000283351.4	-	18	2892	c.2557G>C	c.(2557-2559)Gat>Cat	p.D853H	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D799H	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	853					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAATGCCATCTACTGTCATA	0.418																																																	0													152	146	148					18																	29446845		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2557G>C	18.37:g.29446845C>G	ENSP00000283351:p.Asp853His		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.D853H	ENST00000283351.4	37	c.2557	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257966	0.39896	.	.	ENSG00000153339	ENST00000283351	T	0.09073	3.02	5.65	5.65	0.86999	.	0.477684	0.24823	N	0.035319	T	0.20700	0.0498	M	0.74258	2.255	0.80722	D	1	D	0.59357	0.985	P	0.48454	0.578	T	0.00505	-1.1700	10	0.48119	T	0.1	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	853	Q9Y2L5	TPPC8_HUMAN	H	853	ENSP00000283351:D853H	ENSP00000283351:D853H	D	-	1	0	TRAPPC8	27700843	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.557000	0.67313	2.680000	0.91292	0.467000	0.42956	GAT	TRAPPC8	-	NULL		0.418	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	C	NM_014939		29446845	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29446845	C	G	29446845	3	3	101	1	0	0	0	0	1	0	0	0	8224	913	32	1	1798	1	KIAA1012	18	29446845	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	14594908	29446845	48630403	268	14899										
MYO5B	4645	genome.wustl.edu	37	chr18	47429194	47429194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gatggtggtggccttgtgctCcatgaggacctggcgggaaa	17	8	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:47429194C>G	ENST00000285039.7	-	21	2880	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	MYO5B_ENST00000324581.6_Missense_Mutation_p.E2Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	861	Arg-rich.|IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCTTGTGCTCCATGAGGACC	0.587																																																	0													22	24	23					18																	47429194		2086	4212	6298	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2581G>C	18.37:g.47429194C>G	ENSP00000285039:p.Glu861Gln		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E861Q	ENST00000285039.7	37	c.2581	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160236	0.38119	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;D	0.95377	-2.22;-3.69	5.63	4.75	0.60458	.	0.193063	0.44285	D	0.000465	D	0.90943	0.7153	L	0.28115	0.83	0.40588	D	0.981461	B;B	0.25667	0.124;0.131	B;B	0.26202	0.067;0.063	D	0.87841	0.2651	10	0.19147	T	0.46	.	14.8289	0.70132	0.0:0.7268:0.2732:0.0	.	861;2	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	861;2	ENSP00000285039:E861Q;ENSP00000315531:E2Q	ENSP00000285039:E861Q	E	-	1	0	MYO5B	45683192	0.998000	0.40836	0.939000	0.37840	0.877000	0.50540	3.031000	0.49728	1.488000	0.48433	0.655000	0.94253	GAG	MYO5B	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	C			47429194	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	missense	SNP	0.937	G	G	47429194	C	G	47429194	3	3	101	1	0	0	0	0	1	0	0	0	10102	864	30	1	3045	1	MYO5B	18	47429194	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	17982349	47429194	30648054	269	14900										
MEX3C	51320	genome.wustl.edu	37	chr18	48723052	48723052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tccccgttcagggcggccgcCgccgccccacaaccgccggg	13	21	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:48723052C>T	ENST00000592416.1	-	1	77	c.78G>A	c.(76-78)gcG>gcA	p.A26A	MEX3C_ENST00000591040.1_Intron			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C	213					chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GGGCGGCCGCCGCCGCCCCAC	0.746																																																	0													6	5	5					18																	48723052		1833	3679	5512	SO:0001819	synonymous_variant	51320			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000592416.1:c.78G>A	18.37:g.48723052C>T			A1L022|Q9NZE3	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.A213	ENST00000592416.1	37	c.639		18																																																																																			MEX3C	-	NULL		0.746	MEX3C-002	PUTATIVE	mRNA_start_NF|cds_start_NF|basic	protein_coding	MEX3C	HGNC	protein_coding	OTTHUMT00000449560.1	C	NM_016626		48723052	-1	no_errors	ENST00000406189	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48723052	C	T	48723052	2	4	101	1	0	0	0	0	0	0	0	1	9534	639	23	2		2	MEX3C	18	48723052	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1293858	48723052	29354196	270	14901										
MEX3D	399664	genome.wustl.edu	37	chr19	1556818	1556818	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gatctcacgcttggccatctCcacgtcctccttccggccgg	9	18	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:1556818C>A	ENST00000402693.4	-	2	699	c.700G>T	c.(700-702)Gag>Tag	p.E234*	MEX3D_ENST00000388824.6_Nonsense_Mutation_p.E234*|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	234	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCCATCTCCACGTCCTCC	0.677																																																	0													32	33	33					19																	1556818		2201	4288	6489	SO:0001587	stop_gained	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.700G>T	19.37:g.1556818C>A	ENSP00000384398:p.Glu234*		A0PJL8|A1L023|E9PAL6|Q71M49	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E234*	ENST00000402693.4	37	c.700	CCDS32865.2	19	.	.	.	.	.	.	.	.	.	.	C	35	5.504601	0.96371	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	.	.	.	4.63	4.63	0.57726	.	0.062602	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-21.136	16.4484	0.83959	0.0:1.0:0.0:0.0	.	.	.	.	X	124;234;234	.	ENSP00000347885:E124X	E	-	1	0	MEX3D	1507818	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.608000	0.67654	2.125000	0.65367	0.491000	0.48974	GAG	MEX3D	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.677	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	C	NM_203304		1556818	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	1556818	C	A	1556818	4	1	101	1	0	0	0	0	0	1	0	0	9535	864	30	3	1322	3	MEX3D	19	1556818	Nonsense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		1556818	57572165	271	14902										
FUT5	2527	genome.wustl.edu	37	chr19	5867194	5867194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacggctccagccagccgtaGggcgtgaagatgtcggagtc	15	12	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:5867194G>T	ENST00000588525.1	-	2	630	c.543C>A	c.(541-543)ccC>ccA	p.P181P	FUT5_ENST00000252675.5_Silent_p.P181P	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	181					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCAGCCGTAGGGCGTGAAGA	0.652																																																	0													29	25	26					19																	5867194		2187	4278	6465	SO:0001819	synonymous_variant	2527				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.543C>A	19.37:g.5867194G>T			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.P181	ENST00000588525.1	37	c.543	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	G	NM_002034		5867194	-1	no_errors	ENST00000252675	ensembl	human	known	70_37	silent	SNP	0.998	T	T	5867194	G	T	5867194	2	4	101	1	0	0	0	0	0	0	0	1	6125	987	35	4		4	FUT5	19	5867194	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4310376	5867194	53261789	272	14903										
ZNF358	140467	genome.wustl.edu	37	chr19	7585681	7585681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccttgatcctgtgcccagccCagaccctgatcctgtgccca	8	18	0	3	rs558919190	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:7585681C>A	ENST00000597229.1	+	2	1723	c.1553C>A	c.(1552-1554)cCa>cAa	p.P518Q	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.P518Q|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	518					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GTGCCCAGCCCAGACCCTGAT	0.652																																																	0													103	81	89					19																	7585681		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1553C>A	19.37:g.7585681C>A	ENSP00000472305:p.Pro518Gln		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P518Q	ENST00000597229.1	37	c.1553	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483916	0.26598	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.66099	-0.19	3.59	1.36	0.22044	.	.	.	.	.	T	0.46151	0.1378	N	0.19112	0.55	0.09310	N	1	P	0.41313	0.745	B	0.41988	0.372	T	0.36114	-0.9761	9	0.87932	D	0	.	6.1894	0.20516	0.1847:0.7091:0.0:0.1061	.	518	Q9NW07	ZN358_HUMAN	Q	518	ENSP00000377873:P518Q	ENSP00000354703:P518Q	P	+	2	0	ZNF358	7491681	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.128000	0.15810	0.475000	0.27415	-0.258000	0.10820	CCA	ZNF358	-	NULL		0.652	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	C			7585681	1	no_errors	ENST00000394341	ensembl	human	known	70_37	missense	SNP	0.001	A	A	7585681	C	A	7585681	3	1	101	1	0	0	0	0	1	0	0	0	17897	594	21	4	1555	4	ZNF358	19	7585681	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1718487	7585681	51543302	273	14904										
EVI5L	115704	genome.wustl.edu	37	chr19	7925449	7925449	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gctctctgcctcccccaggaGaacccccgcctcacagaaga	8	19	2	3	rs377458138		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:7925449G>C	ENST00000270530.4	+	13	1540	c.1344G>C	c.(1342-1344)gaG>gaC	p.E448D	EVI5L_ENST00000538904.2_Missense_Mutation_p.E459D	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	448					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E448D(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCCCCAGGAGAACCCCCGCC	0.692																																																	1	Substitution - Missense(1)	lung(1)											22	20	21					19																	7925449		2197	4293	6490	SO:0001583	missense	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1344G>C	19.37:g.7925449G>C	ENSP00000270530:p.Glu448Asp		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E459D	ENST00000270530.4	37	c.1377	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880908	0.17467	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97256	-4.31;3.38	4.44	-8.88	0.00789	.	1.047180	0.07433	N	0.896027	D	0.91848	0.7420	L	0.46157	1.445	0.22112	N	0.999358	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80643	-0.1291	10	0.19590	T	0.45	-5.9309	5.1955	0.15233	0.0872:0.3589:0.4242:0.1296	.	459;448	B9A6I9;Q96CN4	.;EVI5L_HUMAN	D	448;459	ENSP00000270530:E448D;ENSP00000445905:E459D	ENSP00000270530:E448D	E	+	3	2	EVI5L	7831449	0.057000	0.20700	0.838000	0.33150	0.479000	0.33129	-1.774000	0.01784	-1.677000	0.01455	-0.304000	0.09214	GAG	EVI5L	-	NULL		0.692	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	G	NM_145245		7925449	1	no_errors	ENST00000538904	ensembl	human	known	70_37	missense	SNP	0.305	C	C	7925449	G	C	7925449	3	2	101	1	0	0	0	0	1	0	0	0	5302	933	33	1	1427	1	EVI5L	19	7925449	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	339768	7925449	51203534	274	14905										
EIF3G	8666	genome.wustl.edu	37	chr19	10230348	10230348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	accgtcctccccctcctcctCcacctggtcggcccaactgg	7	22	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:10230348C>T	ENST00000253108.4	-	2	91	c.49G>A	c.(49-51)Gag>Aag	p.E17K	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCTCCTCCTCCACCTGGTCG	0.647											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(124;1100 1638 3822 4510 4876)												0													63	62	63					19																	10230348		2203	4300	6503	SO:0001583	missense	8666			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"RNA binding motif (RRM) containing"	3274	protein-coding gene	gene with protein product		603913	"eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.49G>A	19.37:g.10230348C>T	ENSP00000253108:p.Glu17Lys	663		Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.E17K	ENST00000253108.4	37	c.49	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834825	0.71373	.	.	ENSG00000130811	ENST00000253108	T	0.15017	2.46	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	N	0.08118	0	0.58432	D	0.999993	D;D;B	0.89917	1.0;0.993;0.399	D;D;B	0.87578	0.998;0.971;0.14	T	0.27739	-1.0065	10	0.72032	D	0.01	-29.659	15.4691	0.75426	0.0:1.0:0.0:0.0	.	17;17;17	B4DK39;B0AZV5;O75821	.;.;EIF3G_HUMAN	K	17	ENSP00000253108:E17K	ENSP00000253108:E17K	E	-	1	0	EIF3G	10091348	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	4.334000	0.59291	2.528000	0.85240	0.491000	0.48974	GAG	EIF3G	-	pirsf_Transl_init_eIF-3_G		0.647	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	C			10230348	-1	no_errors	ENST00000253108	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10230348	C	T	10230348	3	4	101	1	0	0	0	0	1	0	0	0	5029	864	30	1	953	1	EIF3G	19	10230348	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2304899	10230348	48898635	275	14906										
CYP4F11	57834	genome.wustl.edu	37	chr19	16032932	16032932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gtattctgggtgctttgcaaGgtggtataggacccaggaga	15	6	1	1	rs376221111		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:16032932G>A	ENST00000402119.4	-	8	1456	c.1030C>T	c.(1030-1032)Ctt>Ttt	p.L344F	CYP4F11_ENST00000248041.8_Missense_Mutation_p.L344F|CYP4F11_ENST00000326742.8_Missense_Mutation_p.L344F|CYP4F11_ENST00000591841.1_Missense_Mutation_p.L19F	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCTTTGCAAGGTGGTATAGG	0.547																																																	0								G	PHE/LEU,PHE/LEU	0,4406		0,0,2203	116	99	105		1030,1030	1.6	0.8	19		105	1,8599		0,1,4299	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	344/525,344/525	16032932	1,13005	2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1030C>T	19.37:g.16032932G>A	ENSP00000384588:p.Leu344Phe			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L344F	ENST00000402119.4	37	c.1030	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	g	10.73	1.431528	0.25813	0.0	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.90133	-2.62;-2.62;-1.83	2.77	1.64	0.23874	.	0.000000	0.52532	U	0.000074	D	0.95274	0.8467	H	0.94620	3.56	0.52099	D	0.999942	P;D	0.71674	0.931;0.998	D;D	0.77557	0.924;0.99	D	0.92704	0.6177	10	0.62326	D	0.03	.	5.3236	0.15895	0.2897:0.0:0.7103:0.0	.	344;344	F8W978;Q9HBI6	.;CP4FB_HUMAN	F	344	ENSP00000384588:L344F;ENSP00000248041:L344F;ENSP00000319859:L344F	ENSP00000248041:L344F	L	-	1	0	CYP4F11	15893932	1.000000	0.71417	0.829000	0.32907	0.064000	0.16182	2.376000	0.44292	0.440000	0.26502	0.484000	0.47621	CTT	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.547	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	G	NM_021187		16032932	-1	no_errors	ENST00000248041	ensembl	human	known	70_37	missense	SNP	0.998	A	A	16032932	G	A	16032932	3	1	101	1	0	0	0	0	1	0	0	0	4191	1000	35	4	564	4	CYP4F11	19	16032932	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	5802584	16032932	43096051	276	14907										
ZNF565	147929	genome.wustl.edu	37	chr19	36673847	36673847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gctgtgaataaagccctttcCgcattccttacactcgtagg	8	12	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:36673847C>T	ENST00000355114.5	-	5	1867	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	ZNF565_ENST00000304116.5_Missense_Mutation_p.G341R|ZNF565_ENST00000392173.2_Missense_Mutation_p.G341R			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAGCCCTTTCCGCATTCCTTA	0.468																																																	0													83	75	77					19																	36673847		2203	4300	6503	SO:0001583	missense	147929			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1141G>A	19.37:g.36673847C>T	ENSP00000347234:p.Gly381Arg		B3KQ35|Q6NUS2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G341R	ENST00000355114.5	37	c.1021		19	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111921	0.37242	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.01025	5.43;5.43;5.43	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002610	T	0.04182	0.0116	M	0.85859	2.78	0.33717	D	0.616546	D	0.71674	0.998	P	0.52758	0.708	T	0.06881	-1.0802	10	0.66056	D	0.02	.	15.559	0.76223	0.0:1.0:0.0:0.0	.	341	Q8N9K5	ZN565_HUMAN	R	341;341;381	ENSP00000376013:G341R;ENSP00000306869:G341R;ENSP00000347234:G381R	ENSP00000306869:G341R	G	-	1	0	ZNF565	41365687	0.998000	0.40836	0.993000	0.49108	0.013000	0.08279	2.975000	0.49281	2.602000	0.87976	0.650000	0.86243	GGA	ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	C	NM_152477		36673847	-1	no_errors	ENST00000304116	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36673847	C	T	36673847	3	4	101	1	0	0	0	0	1	0	0	0	18026	661	23	2	482	2	ZNF565	19	36673847	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	20640915	36673847	22455136	277	14908										
PAK4	10298	genome.wustl.edu	37	chr19	39664313	39664313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccggcctcccacccgagcccGaggtgcccccagccctggag	12	21	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:39664313G>A	ENST00000593690.1	+	6	1188	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	PAK4_ENST00000360442.3_Missense_Mutation_p.R254Q|PAK4_ENST00000358301.3_Missense_Mutation_p.R254Q|PAK4_ENST00000435673.2_Missense_Mutation_p.R254Q|PAK4_ENST00000599470.1_Missense_Mutation_p.R101Q|PAK4_ENST00000321944.4_Missense_Mutation_p.R164Q|PAK4_ENST00000599386.1_Missense_Mutation_p.R101Q	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	254	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			ACCCGAGCCCGAGGTGCCCCC	0.751																																																	0													5	7	7					19																	39664313		2019	4026	6045	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.761G>A	19.37:g.39664313G>A	ENSP00000469413:p.Arg254Gln		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.R254Q	ENST00000593690.1	37	c.761	CCDS12528.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.198|0.198	-1.047571|-1.047571	0.01981|0.01981	.|.	.|.	ENSG00000130669|ENSG00000130669	ENST00000542377|ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442	.|T;T;T;T	.|0.70164	.|-0.46;0.75;-0.46;-0.46	3.28|3.28	-0.018|-0.018	0.13966|0.13966	.|.	.|1.269180	.|0.05204	.|N	.|0.505487	T|T	0.45577|0.45577	0.1349|0.1349	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P;B;B	.|0.37663	.|0.604;0.006;0.01	.|B;B;B	.|0.34385	.|0.181;0.003;0.001	T|T	0.25950|0.25950	-1.0117|-1.0117	6|10	0.05959|0.13108	T|T	0.93|0.6	.|.	5.953|5.953	0.19257|0.19257	0.4898:0.0:0.5102:0.0|0.4898:0.0:0.5102:0.0	.|.	.|164;101;254	.|O96013-4;O96013-3;O96013	.|.;.;PAK4_HUMAN	K|Q	30|254;101;58;254;254	.|ENSP00000351049:R254Q;ENSP00000326864:R101Q;ENSP00000392753:R254Q;ENSP00000353625:R254Q	ENSP00000443258:E30K|ENSP00000326864:R101Q	E|R	+|+	1|2	0|0	PAK4|PAK4	44356153|44356153	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.029000|0.029000	0.11900|0.11900	0.025000|0.025000	0.13577|0.13577	0.084000|0.084000	0.17077|0.17077	0.555000|0.555000	0.69702|0.69702	GAG|CGA	PAK4	-	NULL		0.751	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	G			39664313	1	no_errors	ENST00000358301	ensembl	human	known	70_37	missense	SNP	0.049	A	A	39664313	G	A	39664313	3	1	101	1	0	0	0	0	1	0	0	0	11427	1058	37	1	771	1	PAK4	19	39664313	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2990466	39664313	19464670	278	14909										
HIPK4	147746	genome.wustl.edu	37	chr19	40895399	40895399	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcatgatgttctcaggcttGagatcagcgtggatgatagc	13	7	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:40895399G>C	ENST00000291823.2	-	1	695	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCTCAGGCTTGAGATCAGCGT	0.627																																																	0													58	54	55					19																	40895399		2203	4300	6503	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.411C>G	19.37:g.40895399G>C			A8K863|Q96M54	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L137	ENST00000291823.2	37	c.411	CCDS12555.1	19																																																																																			HIPK4	-	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		0.627	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	G	NM_144685		40895399	-1	no_errors	ENST00000291823	ensembl	human	known	70_37	silent	SNP	1.000	C	C	40895399	G	C	40895399	2	2	101	1	0	0	0	0	0	0	0	1	7139	1277	45	1		1	HIPK4	19	40895399	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1231086	40895399	18233584	279	14910										
IRGQ	126298	genome.wustl.edu	37	chr19	44099333	44099333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgcccagaaaaaggcctgggCccgcagctcttaggctggga	14	13	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:44099333C>T	ENST00000602269.1	-	1	343	c.158G>A	c.(157-159)gGc>gAc	p.G53D	L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.G53D|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000528387.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	53										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AAGGCCTGGGCCCGCAGCTCT	0.711																																																	0													8	9	9					19																	44099333		2133	4186	6319	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.158G>A	19.37:g.44099333C>T	ENSP00000472250:p.Gly53Asp		B2RNP3	Missense_Mutation	SNP	NULL	p.G53D	ENST00000602269.1	37	c.158	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380895	0.82792	.	.	ENSG00000167378	ENST00000422989	T	0.53423	0.62	3.97	2.89	0.33648	.	0.174884	0.27981	N	0.017078	T	0.46132	0.1377	N	0.24115	0.695	0.28758	N	0.901043	D	0.71674	0.998	D	0.64776	0.929	T	0.33085	-0.9882	10	0.20046	T	0.44	-27.8779	9.3584	0.38182	0.0:0.7684:0.2316:0.0	.	53	Q8WZA9	IRGQ_HUMAN	D	53	ENSP00000387535:G53D	ENSP00000387535:G53D	G	-	2	0	IRGQ	48791173	0.369000	0.25039	0.983000	0.44433	0.929000	0.56500	1.328000	0.33758	0.968000	0.38212	0.655000	0.94253	GGC	IRGQ	-	NULL		0.711	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	C	NM_001007561		44099333	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	missense	SNP	0.981	T	T	44099333	C	T	44099333	3	4	101	1	0	0	0	0	1	0	0	0	7859	739	26	4	1721	4	IRGQ	19	44099333	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3203934	44099333	15029650	280	14911										
TOMM40	10452	genome.wustl.edu	37	chr19	45395670	45395670	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agctgtttcccattcagatgGagggtgtcaagctcacagtc	11	10	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:45395670G>C	ENST00000426677.2	+	2	475	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000252487.5_Missense_Mutation_p.E99Q|TOMM40_ENST00000405636.2_Missense_Mutation_p.E99Q|TOMM40_ENST00000592434.1_Missense_Mutation_p.E99Q	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	99					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CATTCAGATGGAGGGTGTCAA	0.552																																																	0													209	175	187					19																	45395670		2203	4300	6503	SO:0001583	missense	10452			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.295G>C	19.37:g.45395670G>C	ENSP00000410339:p.Glu99Gln		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	pfam_Porin_Euk	p.E99Q	ENST00000426677.2	37	c.295	CCDS12646.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717827	0.89205	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.48522	0.81;0.81;0.81	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.92219	3.285	0.80722	D	1	D;D	0.64830	0.994;0.99	P;D	0.65987	0.869;0.94	T	0.81534	-0.0889	10	0.72032	D	0.01	-17.4699	14.7003	0.69152	0.0:0.0:1.0:0.0	.	99;99	O96008-2;O96008	.;TOM40_HUMAN	Q	99	ENSP00000410339:E99Q;ENSP00000385184:E99Q;ENSP00000252487:E99Q	ENSP00000252487:E99Q	E	+	1	0	TOMM40	50087510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.243000	0.95416	2.116000	0.64780	0.455000	0.32223	GAG	TOMM40	-	pfam_Porin_Euk		0.552	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOMM40	HGNC	protein_coding	OTTHUMT00000453241.1	G			45395670	1	no_errors	ENST00000252487	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45395670	G	C	45395670	3	2	101	1	0	0	0	0	1	0	0	0	16388	1175	41	1	301	1	TOMM40	19	45395670	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1296337	45395670	13733313	281	14912										
ERCC2	2068	genome.wustl.edu	37	chr19	45867377	45867377	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgctcgtctgtctctttgatCctgcggagagatgagctggg	14	9	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:45867377C>G	ENST00000391945.4	-	10	893	c.816G>C	c.(814-816)agG>agC	p.R272S	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391940.4_Splice_Site_p.R248S|ERCC2_ENST00000485403.2_Splice_Site_p.R248S|ERCC2_ENST00000391944.3_Splice_Site_p.R194S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	272	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTCTTTGATCCTGCGGAGAG	0.721			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	0													9	12	11					19																	45867377		2111	4215	6326	SO:0001630	splice_region_variant	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.816-1G>C	19.37:g.45867377C>G			Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R272S	ENST00000391945.4	37	c.816	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245342	0.39697	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.63417	-0.04;-0.04;-0.04	5.55	2.16	0.27623	Helicase-like, DEXD box c2 type (1);Domain of unknown function DUF1227 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.232964	0.49916	D	0.000122	T	0.53206	0.1782	L	0.52206	1.635	0.80722	D	1	B;B;B	0.23540	0.002;0.087;0.002	B;B;B	0.32928	0.016;0.155;0.016	T	0.51276	-0.8726	10	0.56958	D	0.05	.	4.7711	0.13157	0.1518:0.6075:0.0:0.2407	.	194;248;272	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	S	222;248;272;194;248	ENSP00000375809:R272S;ENSP00000375808:R194S;ENSP00000375804:R248S	ENSP00000375804:R248S	R	-	3	2	ERCC2	50559217	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.505000	0.35736	0.677000	0.31305	0.561000	0.74099	AGG	ERCC2	-	pfam_DUF1227,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3		0.721	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	C	NM_000400	Missense_Mutation	45867377	-1	no_errors	ENST00000391945	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45867377	C	G	45867377	5	3	101	1	0	0	0	0	0	0	1	0	5225	869	30	1	1579	1	ERCC2	19	45867377	Splice_Site	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	471707	45867377	13261606	282	14913										
CCDC8	83987	genome.wustl.edu	37	chr19	46915485	46915485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cacctggctgacatactcccGccacctgtccgctttggaca	8	17	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:46915485G>A	ENST00000307522.3	-	1	1356	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	195					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ACATACTCCCGCCACCTGTCC	0.716																																																	0													24	24	24					19																	46915485		2203	4300	6503	SO:0001583	missense	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.583C>T	19.37:g.46915485G>A	ENSP00000303158:p.Arg195Trp		Q8TB26	Missense_Mutation	SNP	NULL	p.R195W	ENST00000307522.3	37	c.583	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323741	0.81580	.	.	ENSG00000169515	ENST00000307522	T	0.20200	2.09	4.66	3.61	0.41365	.	0.199051	0.24970	N	0.034142	T	0.41971	0.1182	M	0.62723	1.935	0.34176	D	0.670327	D	0.89917	1.0	D	0.81914	0.995	T	0.59064	-0.7524	10	0.87932	D	0	-5.0691	12.7877	0.57516	0.0:0.0:0.8351:0.1648	.	195	Q9H0W5	CCDC8_HUMAN	W	195	ENSP00000303158:R195W	ENSP00000303158:R195W	R	-	1	2	CCDC8	51607325	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	3.995000	0.57001	1.246000	0.43901	0.655000	0.94253	CGG	CCDC8	-	NULL		0.716	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	G	NM_032040		46915485	-1	no_errors	ENST00000307522	ensembl	human	known	70_37	missense	SNP	0.994	A	A	46915485	G	A	46915485	3	1	101	1	0	0	0	0	1	0	0	0	2858	1086	38	2	1037	2	CCDC8	19	46915485	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1048108	46915485	12213498	283	14914										
SAE1	10055	genome.wustl.edu	37	chr19	47658464	47658464	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcttctgagacaacgatggtCaaaaaggtatgtgtaacgtg	11	6	3	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:47658464C>G	ENST00000270225.7	+	5	689	c.621C>G	c.(619-621)gtC>gtG	p.V207V	SAE1_ENST00000392776.3_Silent_p.V207V|SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Silent_p.V33V|SAE1_ENST00000413379.3_Silent_p.V207V	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	207					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CAACGATGGTCAAAAAGGTAT	0.483																																																	0													112	105	107					19																	47658464		2203	4300	6503	SO:0001819	synonymous_variant	10055			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.621C>G	19.37:g.47658464C>G			B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.V207	ENST00000270225.7	37	c.621	CCDS12696.1	19																																																																																			SAE1	-	superfamily_Molybdenum_cofac_synth_MoeB		0.483	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1	C	NM_005500		47658464	1	no_errors	ENST00000270225	ensembl	human	known	70_37	silent	SNP	0.989	G	G	47658464	C	G	47658464	2	3	101	1	0	0	0	0	0	0	0	1	13835	813	29	1		1	SAE1	19	47658464	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	742979	47658464	11470519	284	14915										
PRR12	57479	genome.wustl.edu	37	chr19	50105124	50105124	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agtggcggagagggcatcttCcgggaacgggacgagttcgt	18	8	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:50105124C>T	ENST00000418929.2	+	6	4734	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	753							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGGCATCTTCCGGGAACGGG	0.637																																																	0													24	33	30					19																	50105124		2057	4176	6233	SO:0001819	synonymous_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4722C>T	19.37:g.50105124C>T			E9PB06|Q8N4J6	Silent	SNP	NULL	p.F1574	ENST00000418929.2	37	c.4722	CCDS46143.1	19																																																																																			PRR12	-	NULL		0.637	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50105124	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	silent	SNP	1.000	T	T	50105124	C	T	50105124	2	4	101	1	0	0	0	0	0	0	0	1	12611	854	30	1		1	PRR12	19	50105124	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2446660	50105124	9023859	285	14916										
ZNF805	390980	genome.wustl.edu	37	chr19	57764449	57764449	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gatttctttcaggtgacaaaGgaaaacccaagagcacagaa	9	8	2	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:57764449G>C	ENST00000414468.2	+	4	262	c.262G>C	c.(262-264)Gga>Cga	p.G88R	ZNF805_ENST00000535550.1_5'UTR|ZNF805_ENST00000354309.4_5'UTR	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AGGTGACAAAGGAAAACCCAA	0.413																																																	0													86	79	81					19																	57764449		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.262G>C	19.37:g.57764449G>C	ENSP00000412999:p.Gly88Arg		B4DNM5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G88R	ENST00000414468.2	37	c.262	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	G	3.751	-0.051578	0.07362	.	.	ENSG00000204524	ENST00000414468	T	0.25912	1.77	4.06	0.781	0.18561	.	.	.	.	.	T	0.14184	0.0343	L	0.27053	0.805	0.09310	N	0.999994	B	0.11235	0.004	B	0.08055	0.003	T	0.35151	-0.9800	9	0.15066	T	0.55	.	6.0475	0.19768	0.328:0.0:0.672:0.0	.	88	Q5CZA5	ZN805_HUMAN	R	88	ENSP00000412999:G88R	ENSP00000412999:G88R	G	+	1	0	ZNF805	62456261	0.072000	0.21174	0.000000	0.03702	0.079000	0.17450	1.492000	0.35594	0.280000	0.22209	0.591000	0.81541	GGA	ZNF805	-	NULL		0.413	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	G	NM_001023563		57764449	1	no_errors	ENST00000414468	ensembl	human	known	70_37	missense	SNP	0.002	C	C	57764449	G	C	57764449	3	2	101	1	0	0	0	0	1	0	0	0	18202	1001	35	4	276	4	ZNF805	19	57764449	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7659325	57764449	1364534	286	14917										
ZNF551	90233	genome.wustl.edu	37	chr19	58196731	58196731	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgcgatgtgatgctggagaaCtttgcacatgtaacatccct	10	9	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:58196731C>A	ENST00000282296.5	+	2	368	c.183C>A	c.(181-183)aaC>aaA	p.N61K	ZNF551_ENST00000356715.4_Missense_Mutation_p.N45K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Missense_Mutation_p.N45K|ZNF551_ENST00000599402.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGGAGAACTTTGCACATG	0.493																																																	0													267	235	246					19																	58196731		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.183C>A	19.37:g.58196731C>A	ENSP00000282296:p.Asn61Lys		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N61K	ENST00000282296.5	37	c.183	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566815	0.28003	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.17	1.13	0.20643	Krueppel-associated box (4);	.	.	.	.	T	0.69700	0.3140	M	0.92691	3.335	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55891	-0.8069	8	0.87932	D	0	.	4.6489	0.12585	0.0:0.812:0.0:0.188	.	61	Q7Z340	ZN551_HUMAN	K	61;45;33	.	ENSP00000282296:N45K	N	+	3	2	ZNF551	62888543	0.000000	0.05858	0.013000	0.15412	0.328000	0.28507	-0.012000	0.12699	0.473000	0.27368	0.462000	0.41574	AAC	ZNF551	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.493	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	C	NM_138347		58196731	1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.046	A	A	58196731	C	A	58196731	3	1	101	1	0	0	0	0	1	0	0	0	18013	564	20	4	141	4	ZNF551	19	58196731	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	432282	58196731	932252	287	14918										
ZNF814	730051	genome.wustl.edu	37	chr19	58384994	58384994	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgatggctcctaaggtgcccGattgaactaaaagatttccc	9	10	0	3	rs562476717		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:58384994G>A	ENST00000435989.2	-	3	1998	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	588					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TAAGGTGCCCGATTGAACTAA	0.453																																																	0													93	75	81					19																	58384994		692	1591	2283	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1764C>T	19.37:g.58384994G>A			A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I588	ENST00000435989.2	37	c.1764	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384994	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.000	A	A	58384994	G	A	58384994	2	1	101	1	0	0	0	0	0	0	0	1	18206	1048	37	1		1	ZNF814	19	58384994	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	188263	58384994	743989	288	14919										
C20orf46	55321	genome.wustl.edu	37	chr20	1162032	1162032	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gagctgcccagtctcgtgttCccagggttctggaaatgggt	14	10	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:1162032C>T	ENST00000381894.3	-	2	902	c.231G>A	c.(229-231)ggG>ggA	p.G77G	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	77						integral component of membrane (GO:0016021)											GTCTCGTGTTCCCAGGGTTCT	0.632																																																	0													38	44	42					20																	1162032		2203	4300	6503	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.231G>A	20.37:g.1162032C>T			D3DVW5	Silent	SNP	NULL	p.G77	ENST00000381894.3	37	c.231	CCDS13011.1	20																																																																																			TMEM74B	-	NULL		0.632	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	C	NM_018354		1162032	-1	no_errors	ENST00000381894	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1162032	C	T	1162032	2	4	101	1	0	0	0	0	0	0	0	1	2118	842	30	1		1	C20orf46	20	1162032	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		1162032	61863488	289	14920										
IDH3B	3420	genome.wustl.edu	37	chr20	2644581	2644581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcgtgcatacctggctccgcGatgcagcgtgcgccgcggcc	14	16	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:2644581G>A	ENST00000380843.4	-	2	137	c.107C>T	c.(106-108)tCg>tTg	p.S36L	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.S36L|RP4-686C3.7_ENST00000418739.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	36					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CTGGCTCCGCGATGCAGCGTG	0.657																																																	0													48	51	50					20																	2644581		2203	4300	6503	SO:0001583	missense	3420				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.107C>T	20.37:g.2644581G>A	ENSP00000370223:p.Ser36Leu		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S36L	ENST00000380843.4	37	c.107	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653317	0.29425	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.40225	1.04;1.04	5.64	0.179	0.15063	.	0.648256	0.16595	N	0.207582	T	0.17789	0.0427	N	0.08118	0	0.20403	N	0.999908	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13442	-1.0509	10	0.30078	T	0.28	-0.2841	4.4941	0.11828	0.32:0.0:0.5371:0.1429	.	36;36	O43837-2;O43837	.;IDH3B_HUMAN	L	36	ENSP00000370232:S36L;ENSP00000370223:S36L	ENSP00000343215:S36L	S	-	2	0	IDH3B	2592581	0.005000	0.15991	0.001000	0.08648	0.013000	0.08279	1.032000	0.30178	0.073000	0.16731	-0.812000	0.03155	TCG	IDH3B	-	NULL		0.657	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	G			2644581	-1	no_errors	ENST00000380843	ensembl	human	known	70_37	missense	SNP	0.001	A	A	2644581	G	A	2644581	3	1	101	1	0	0	0	0	1	0	0	0	7517	1059	37	1	1254	1	IDH3B	20	2644581	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1482549	2644581	60380939	290	14921										
HSPA12B	116835	genome.wustl.edu	37	chr20	3728949	3728949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggtatactgccgcaagctgcGcctgcaccagctcctggacc	11	16	0	0	rs139568860		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:3728949G>A	ENST00000254963.2	+	8	906	c.761G>A	c.(760-762)cGc>cAc	p.R254H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R88H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	254							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGCAAGCTGCGCCTGCACCAG	0.682																																																	0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	43	42	42		758,761	5	1	20	dbSNP_134	42	0,8600		0,0,4300	no	missense,missense	HSPA12B	NM_001197327.1,NM_052970.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	253/686,254/687	3728949	1,13005	2203	4300	6503	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.761G>A	20.37:g.3728949G>A	ENSP00000254963:p.Arg254His		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	NULL	p.R254H	ENST00000254963.2	37	c.761	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.313013	0.95655	2.27E-4	0.0	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.46063	1.5;0.88;0.89	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.962;0.993	T	0.46925	-0.9156	10	0.15066	T	0.55	.	15.7728	0.78184	0.0:0.0:1.0:0.0	.	253;254	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	254;88;168	ENSP00000254963:R254H;ENSP00000441506:R88H;ENSP00000382608:R168H	ENSP00000254963:R254H	R	+	2	0	HSPA12B	3676949	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.657000	0.98554	2.578000	0.87016	0.655000	0.94253	CGC	HSPA12B	-	NULL		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2	G	NM_052970		3728949	1	no_errors	ENST00000254963	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3728949	G	A	3728949	3	1	101	1	0	0	0	0	1	0	0	0	7425	1087	38	2	787	2	HSPA12B	20	3728949	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	1084368	3728949	59296571	291	14922										
KIF3B	9371	genome.wustl.edu	37	chr20	30915357	30915357	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	taacactgcagttcatttccAggaaccagcagatgatgaag	9	9	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:30915357A>G	ENST00000375712.3	+	7	2029		c.e7-1		KIF3B_ENST00000418717.2_Splice_Site	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B						anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTTCATTTCCAGGAACCAGCA	0.537																																																	0													94	87	89					20																	30915357		2203	4300	6503	SO:0001630	splice_region_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1863-1A>G	20.37:g.30915357A>G			B2RMP4|B4DSR5|E1P5M5	Splice_Site	SNP	-	e6-2	ENST00000375712.3	37	c.1863-2	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238986	0.79800	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7617	0.78087	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF3B	30379018	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.404000	0.90210	2.371000	0.80710	0.533000	0.62120	.	KIF3B	-	-		0.537	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	A	NM_004798	Intron	30915357	1	no_errors	ENST00000375712	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	30915357	A	G	30915357	5	3	101	1	0	0	0	0	0	0	1	0	8321	202	7	5	1883	5	KIF3B	20	30915357	Splice_Site	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09	27186408	30915357	32110163	292	14923										
C20orf112	140688	genome.wustl.edu	37	chr20	31035550	31035550	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgggcctgctggtgctggtgCtggagggggtgggcgtgggg	25	7	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:31035550C>G	ENST00000359676.5	-	8	1302	c.1160G>C	c.(1159-1161)aGc>aCc	p.S387T	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		387						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ggtgctggtgctggagggggt	0.692																																																	0													18	20	19					20																	31035550		2202	4296	6498	SO:0001583	missense	140688																														ENST00000359676.5:c.1160G>C	20.37:g.31035550C>G	ENSP00000352704:p.Ser387Thr		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.S387T	ENST00000359676.5	37	c.1160	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475258	0.26511	.	.	ENSG00000197183	ENST00000359676	.	.	.	4.87	3.92	0.45320	.	1.005240	0.07989	N	0.986841	T	0.44561	0.1299	L	0.38175	1.15	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.26883	-1.0090	9	0.14656	T	0.56	-14.393	6.3152	0.21186	0.0:0.7476:0.0:0.2524	.	387	Q96MY1	CT112_HUMAN	T	387	.	ENSP00000352704:S387T	S	-	2	0	C20orf112	30499211	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.891000	0.28309	1.406000	0.46857	0.561000	0.74099	AGC	C20orf112	-	NULL		0.692	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	C			31035550	-1	no_errors	ENST00000359676	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31035550	C	G	31035550	3	3	101	1	0	0	0	0	1	0	0	0	2086	797	28	4	154	4	C20orf112	20	31035550	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	120193	31035550	31989970	293	14924										
RBM39	9584	genome.wustl.edu	37	chr20	34304707	34304707	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cgaccagtttcactgtccatCatcagctggatactttcaat	6	12	4	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:34304707C>T	ENST00000253363.6	-	10	869	c.846G>A	c.(844-846)atG>atA	p.M282I	RBM39_ENST00000528062.3_Missense_Mutation_p.M260I|RBM39_ENST00000407261.4_Missense_Mutation_p.M125I|RBM39_ENST00000361162.6_Missense_Mutation_p.M282I|snoU13_ENST00000459110.1_RNA			Q14498	RBM39_HUMAN	RNA binding motif protein 39	282	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CACTGTCCATCATCAGCTGGA	0.289																																																	0													32	30	31					20																	34304707		2201	4298	6499	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.846G>A	20.37:g.34304707C>T	ENSP00000253363:p.Met282Ile		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF	p.M282I	ENST00000253363.6	37	c.846	CCDS13266.1	20	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424466	0.25639	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.035255	0.85682	D	0.000000	T	0.74966	0.3786	N	0.02391	-0.57	0.80722	D	1	B;B;B;B;B	0.23316	0.004;0.002;0.014;0.083;0.001	B;B;B;B;B	0.24701	0.029;0.029;0.032;0.055;0.029	T	0.71101	-0.4690	10	0.14252	T	0.57	.	17.601	0.88025	0.0:1.0:0.0:0.0	.	260;260;282;282;258	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	I	282;282;260;125	ENSP00000253363:M282I;ENSP00000354437:M282I;ENSP00000436747:M260I;ENSP00000384541:M125I	ENSP00000253363:M282I	M	-	3	0	RBM39	33768121	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.609000	0.82925	2.478000	0.83669	0.650000	0.86243	ATG	RBM39	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF		0.289	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	C	NM_184237		34304707	-1	no_errors	ENST00000253363	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34304707	C	T	34304707	3	4	101	1	0	0	0	0	1	0	0	0	13163	826	29	1	778	1	RBM39	20	34304707	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	3269157	34304707	28720813	294	14925										
KIAA1755	85449	genome.wustl.edu	37	chr20	36874342	36874342	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ttgacttacacaggctgcttCtcgcacttgctcacacaggc	8	14	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:36874342C>T	ENST00000279024.4	-	2	461	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	64										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGGCTGCTTCTCGCACTTGC	0.582																																																	0													64	55	58					20																	36874342		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.190G>A	20.37:g.36874342C>T	ENSP00000279024:p.Glu64Lys		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.E64K	ENST00000279024.4	37	c.190	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888001	0.91814	.	.	ENSG00000149633	ENST00000279024	T	0.06294	3.32	5.51	4.5	0.54988	.	0.000000	0.50627	D	0.000117	T	0.16257	0.0391	L	0.60455	1.87	0.41615	D	0.988939	D	0.60575	0.988	P	0.57620	0.824	T	0.00062	-1.2156	10	0.66056	D	0.02	.	13.1843	0.59672	0.0:0.6998:0.3002:0.0	.	64	Q5JYT7	K1755_HUMAN	K	64	ENSP00000279024:E64K	ENSP00000279024:E64K	E	-	1	0	KIAA1755	36307756	1.000000	0.71417	0.964000	0.40570	0.911000	0.54048	6.949000	0.75971	2.746000	0.94184	0.655000	0.94253	GAA	KIAA1755	-	NULL		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36874342	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	missense	SNP	0.998	T	T	36874342	C	T	36874342	3	4	101	1	0	0	0	0	1	0	0	0	8277	922	32	1	3464	1	KIAA1755	20	36874342	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2569635	36874342	26151178	295	14926										
GNAS	2778	genome.wustl.edu	37	chr20	57415400	57415400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccaggtattccctgagtcccCcgaatcggaatctgaccacg	9	15	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:57415400C>A	ENST00000313949.7	+	1	628	c.239C>A	c.(238-240)cCc>cAc	p.P80H	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P80H|GNAS_ENST00000371098.2_Missense_Mutation_p.P80H|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTGAGTCCCCCGAATCGGAA	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													51	59	57					20																	57415400		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.239C>A	20.37:g.57415400C>A	ENSP00000323571:p.Pro80His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_NESP55	p.P80H	ENST00000313949.7	37	c.239	CCDS13471.1	20	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129680	0.37630	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	3.73	2.77	0.32553	.	.	.	.	.	T	0.50154	0.1599	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.59825	0.864	T	0.53063	-0.8491	8	0.87932	D	0	.	9.2674	0.37650	0.0:0.7797:0.2203:0.0	.	80	O95467	GNAS3_HUMAN	H	80;80;80;1	.	ENSP00000323571:P80H	P	+	2	0	GNAS	56848795	0.998000	0.40836	0.919000	0.36401	0.808000	0.45660	3.049000	0.49869	1.134000	0.42165	0.585000	0.79938	CCC	GNAS	-	pfam_NESP55		0.652	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080418.7	C	NM_000516		57415400	1	no_errors	ENST00000313949	ensembl	human	known	70_37	missense	SNP	0.931	A	A	57415400	C	A	57415400	3	1	101	1	0	0	0	0	1	0	0	0	6529	623	22	4	241	4	GNAS	20	57415400	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	20541058	57415400	5610120	296	14927										
ZNF831	128611	genome.wustl.edu	37	chr20	57766154	57766154	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcctggccctccaggggcccCaggtggccaggcctcacctc	12	19	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:57766154C>G	ENST00000371030.2	+	1	80	c.80C>G	c.(79-81)cCa>cGa	p.P27R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	27	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGGGGCCCCAGGTGGCCAG	0.697																																																	0													25	28	27					20																	57766154		1917	4123	6040	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.80C>G	20.37:g.57766154C>G	ENSP00000360069:p.Pro27Arg		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P27R	ENST00000371030.2	37	c.80	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637265	0.29157	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.12	3.14	0.36123	.	.	.	.	.	T	0.06735	0.0172	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	P	0.54026	0.74	T	0.34675	-0.9819	9	0.59425	D	0.04	-0.1312	8.1769	0.31287	0.1548:0.765:0.0:0.0802	.	27	Q5JPB2	ZN831_HUMAN	R	27	ENSP00000360069:P27R	ENSP00000360069:P27R	P	+	2	0	ZNF831	57199549	0.000000	0.05858	0.021000	0.16686	0.848000	0.48234	0.373000	0.20484	0.709000	0.31976	0.655000	0.94253	CCA	ZNF831	-	NULL		0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57766154	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	missense	SNP	0.001	G	G	57766154	C	G	57766154	3	3	101	1	0	0	0	0	1	0	0	0	18215	594	21	4	82	4	ZNF831	20	57766154	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	350754	57766154	5259366	297	14928										
C21orf45	54069	genome.wustl.edu	37	chr21	33647158	33647158	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caccaaccattttccttttcAcgtttggatagcttctgttc	5	12	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:33647158A>C	ENST00000290130.3	-	2	438	c.384T>G	c.(382-384)cgT>cgG	p.R128R		NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	128					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TTTCCTTTTCACGTTTGGATA	0.279																																																	0													92	86	88					21																	33647158		2202	4300	6502	SO:0001819	synonymous_variant	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.384T>G	21.37:g.33647158A>C			B2R562|Q542Z0	Silent	SNP	NULL	p.R128	ENST00000290130.3	37	c.384	CCDS13611.1	21																																																																																			MIS18A	-	NULL		0.279	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	HGNC	protein_coding	OTTHUMT00000193090.1	A	NM_018944		33647158	-1	no_errors	ENST00000290130	ensembl	human	known	70_37	silent	SNP	0.494	C	C	33647158	A	C	33647158	2	2	101	1	0	0	0	0	0	0	0	1	2131	146	6	5		5	C21orf45	21	33647158	Silent	SNP	A	TCGA-EK-A2PM-01A-11D-A18J-09		33647158	14482737	298	14929										
PSMG1	8624	genome.wustl.edu	37	chr21	40551889	40551889	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgttgatcttctgcaacataGcaactgcactgacagagaaa	8	9	2	3	rs201716985		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:40551889G>T	ENST00000331573.3	-	4	882	c.417C>A	c.(415-417)tgC>tgA	p.C139*	PSMG1_ENST00000380900.2_Intron	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	139					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTGCAACATAGCAACTGCACT	0.368																																																	0													108	97	101					21																	40551889		2203	4300	6503	SO:0001587	stop_gained	8624			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.417C>A	21.37:g.40551889G>T	ENSP00000329915:p.Cys139*		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Nonsense_Mutation	SNP	pirsf_Proteasome_assmbl_chp_1	p.C139*	ENST00000331573.3	37	c.417	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	41	8.773320	0.98948	.	.	ENSG00000183527	ENST00000331573	.	.	.	6.04	6.04	0.98038	.	0.085942	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.79	12.4702	0.55783	0.0763:0.0:0.9237:0.0	.	.	.	.	X	139	.	ENSP00000329915:C139X	C	-	3	2	PSMG1	39473759	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.183000	0.32041	2.873000	0.98535	0.563000	0.77884	TGC	PSMG1	-	pirsf_Proteasome_assmbl_chp_1		0.368	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2	G	NM_003720		40551889	-1	no_errors	ENST00000331573	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	40551889	G	T	40551889	4	4	101	1	0	0	0	0	0	1	0	0	12738	963	34	4	465	4	PSMG1	21	40551889	Nonsense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	6904731	40551889	7578006	299	14930										
DSCAM	1826	genome.wustl.edu	37	chr21	41496132	41496132	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	accaacttactgtgggatagGggtgggagcagaatacagtg	15	6	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:41496132G>C	ENST00000400454.1	-	20	4163	c.3686C>G	c.(3685-3687)cCc>cGc	p.P1229R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1229	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTGGGATAGGGGTGGGAGCA	0.547																																					Melanoma(134;970 1778 1785 21664 32388)												0													190	195	194					21																	41496132		2019	4172	6191	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3686C>G	21.37:g.41496132G>C	ENSP00000383303:p.Pro1229Arg		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1229R	ENST00000400454.1	37	c.3686	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380016	0.42207	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118459	0.64402	D	0.000020	T	0.48259	0.1490	L	0.28694	0.88	0.80722	D	1	P	0.46784	0.884	P	0.46629	0.522	T	0.33085	-0.9882	10	0.17832	T	0.49	.	18.7183	0.91684	0.0:0.0:1.0:0.0	.	1229	O60469	DSCAM_HUMAN	R	1229;981	ENSP00000383303:P1229R;ENSP00000385342:P981R	ENSP00000383303:P1229R	P	-	2	0	DSCAM	40418002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	2.392000	0.81423	0.563000	0.77884	CCC	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41496132	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41496132	G	C	41496132	3	2	101	1	0	0	0	0	1	0	0	0	4778	1232	43	4	2408	4	DSCAM	21	41496132	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	944243	41496132	6633763	300	14931										
DGCR2	9993	genome.wustl.edu	37	chr22	19109704	19109704	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cagcaggaaggcgccgctgtCtgccttgggcaccatttatc	12	13	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:19109704C>T	ENST00000263196.7	-	1	263	c.16G>A	c.(16-18)Gac>Aac	p.D6N	DGCR2_ENST00000545799.1_Missense_Mutation_p.D6N|AC004471.10_ENST00000609936.1_lincRNA|AC004471.9_ENST00000456035.1_RNA|DGCR2_ENST00000537045.1_Missense_Mutation_p.D6N	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	6					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCGCCGCTGTCTGCCTTGGGC	0.711																																																	0													37	36	36					22																	19109704		2140	4194	6334	SO:0001583	missense	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.16G>A	22.37:g.19109704C>T	ENSP00000263196:p.Asp6Asn		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.D6N	ENST00000263196.7	37	c.16	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043228	0.75732	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;D;D	0.97303	-0.17;-4.33;-4.24	4.65	4.65	0.58169	.	0.211271	0.47093	D	0.000247	D	0.97099	0.9052	M	0.68317	2.08	0.39207	D	0.963243	D;D	0.58620	0.983;0.981	P;P	0.55055	0.731;0.767	D	0.97520	1.0072	10	0.62326	D	0.03	.	11.8741	0.52537	0.0:0.9139:0.0:0.0861	.	6;6	B7Z3T5;P98153	.;IDD_HUMAN	N	6	ENSP00000440062:D6N;ENSP00000263196:D6N;ENSP00000445069:D6N	ENSP00000263196:D6N	D	-	1	0	DGCR2	17489704	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	3.629000	0.54266	2.397000	0.81536	0.650000	0.86243	GAC	DGCR2	-	NULL		0.711	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	C	NM_005137		19109704	-1	no_errors	ENST00000263196	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19109704	C	T	19109704	3	4	101	1	0	0	0	0	1	0	0	0	4471	913	32	1	1676	1	DGCR2	22	19109704	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09		19109704	32194862	301	14932										
PI4KA	5297	genome.wustl.edu	37	chr22	21174094	21174094	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgaggagggattttgggaaaGagctttgagaggagagactc	17	3	0	4			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:21174094G>C	ENST00000572273.1	-	6	680	c.450C>G	c.(448-450)ctC>ctG	p.L150L	PI4KA_ENST00000255882.6_Silent_p.L208L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	150					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTTTGGGAAAGAGCTTTGAGA	0.493																																					GBM(136;1332 1831 3115 23601 50806)												0													186	163	171					22																	21174094		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.450C>G	22.37:g.21174094G>C			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L208	ENST00000572273.1	37	c.624		22																																																																																			PI4KA	-	superfamily_ARM-type_fold		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		G	NM_058004		21174094	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	silent	SNP	0.997	C	C	21174094	G	C	21174094	2	2	101	1	0	0	0	0	0	0	0	1	11897	929	33	1		1	PI4KA	22	21174094	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2064390	21174094	30130472	302	14933										
HORMAD2	150280	genome.wustl.edu	37	chr22	30517978	30517978	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccacatgattaccaacccctCggttttaaagaaggggtaaa	8	10	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:30517978C>T	ENST00000336726.6	+	10	949	c.594C>T	c.(592-594)ctC>ctT	p.L198L	HORMAD2_ENST00000403975.1_Silent_p.L198L	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	198	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			ACCAACCCCTCGGTTTTAAAG	0.418																																																	0													40	36	38					22																	30517978		1853	4095	5948	SO:0001819	synonymous_variant	150280			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.594C>T	22.37:g.30517978C>T			B5MEB2|Q8NHR2	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.L198	ENST00000336726.6	37	c.594	CCDS46683.1	22																																																																																			HORMAD2	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd		0.418	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HORMAD2	HGNC	protein_coding	OTTHUMT00000320416.2	C	NM_152510		30517978	1	no_errors	ENST00000336726	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30517978	C	T	30517978	2	4	101	1	0	0	0	0	0	0	0	1	7307	871	31	1		1	HORMAD2	22	30517978	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9343884	30517978	20786588	303	14934										
APOL1	8542	genome.wustl.edu	37	chr22	36661428	36661428	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aatgtggtgtctggctctctCagcatttcctctggcatcct	9	12	4	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:36661428C>T	ENST00000397278.3	+	6	775	c.546C>T	c.(544-546)ctC>ctT	p.L182L	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000319136.4_Silent_p.L198L|APOL1_ENST00000397279.4_Silent_p.L182L|APOL1_ENST00000426053.1_Silent_p.L164L|APOL1_ENST00000347595.7_Silent_p.L61L|APOL1_ENST00000422706.1_Silent_p.L182L	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	182					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGGCTCTCTCAGCATTTCCT	0.562																																																	0													156	140	146					22																	36661428		2203	4300	6503	SO:0001819	synonymous_variant	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.546C>T	22.37:g.36661428C>T			A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	pfam_ApoL	p.L198	ENST00000397278.3	37	c.594	CCDS13926.1	22																																																																																			APOL1	-	pfam_ApoL		0.562	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	C	NM_145343		36661428	1	no_errors	ENST00000319136	ensembl	human	known	70_37	silent	SNP	0.000	T	T	36661428	C	T	36661428	2	4	101	1	0	0	0	0	0	0	0	1	805	813	29	1		1	APOL1	22	36661428	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	6143450	36661428	14643138	304	14935										
JOSD1	9929	genome.wustl.edu	37	chr22	39085337	39085337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aaacagcttcatagcctttgGtctgaagtgctgccataatg	9	9	2	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:39085337G>T	ENST00000216039.5	-	2	957	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	93	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ATAGCCTTTGGTCTGAAGTGC	0.458																																																	0													186	141	157					22																	39085337		2203	4300	6503	SO:0001583	missense	9929				CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.278C>A	22.37:g.39085337G>T	ENSP00000216039:p.Thr93Asn		A8K712	Missense_Mutation	SNP	pfam_Josephin,pfscan_Josephin	p.T93N	ENST00000216039.5	37	c.278	CCDS13976.1	22	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945877	0.73672	.	.	ENSG00000100221	ENST00000216039;ENST00000427389;ENST00000412832	T;T;T	0.42900	0.96;0.96;0.96	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.42245	1.32	0.80722	D	1	P	0.43826	0.818	P	0.50378	0.639	T	0.17440	-1.0369	10	0.17832	T	0.49	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	93	Q15040	JOS1_HUMAN	N	93	ENSP00000216039:T93N;ENSP00000410010:T93N;ENSP00000415189:T93N	ENSP00000216039:T93N	T	-	2	0	JOSD1	37415283	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	ACC	JOSD1	-	pfam_Josephin,pfscan_Josephin		0.458	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JOSD1	HGNC	protein_coding	OTTHUMT00000321047.1	G	NM_014876		39085337	-1	no_errors	ENST00000216039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39085337	G	T	39085337	3	4	101	1	0	0	0	0	1	0	0	0	7978	1261	44	4	342	4	JOSD1	22	39085337	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2423909	39085337	12219229	305	14936										
EP300	2033	genome.wustl.edu	37	chr22	41562645	41562645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aagaaaagtgcacgaactagGaaagaaaataagttttctgc	9	5	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:41562645G>T	ENST00000263253.7	+	23	5068	c.3849G>T	c.(3847-3849)agG>agT	p.R1283S	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1283					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACGAACTAGGAAAGAAAATA	0.303			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													68	66	67					22																	41562645		2202	4296	6498	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3849G>T	22.37:g.41562645G>T	ENSP00000263253:p.Arg1283Ser		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1283S	ENST00000263253.7	37	c.3849	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290129	0.59976	.	.	ENSG00000100393	ENST00000263253	D	0.85171	-1.95	5.85	-0.272	0.12919	.	0.000000	0.53938	D	0.000049	T	0.80138	0.4568	M	0.79805	2.47	0.35934	D	0.832769	P	0.48407	0.91	B	0.38106	0.265	T	0.76798	-0.2826	10	0.52906	T	0.07	-4.0023	5.3834	0.16204	0.3871:0.0:0.4886:0.1243	.	1283	Q09472	EP300_HUMAN	S	1283	ENSP00000263253:R1283S	ENSP00000263253:R1283S	R	+	3	2	EP300	39892591	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.587000	0.23909	-0.205000	0.10219	0.491000	0.48974	AGG	EP300	-	superfamily_Znf_FYVE_PHD		0.303	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41562645	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	0.993	T	T	41562645	G	T	41562645	3	4	101	1	0	0	0	0	1	0	0	0	5160	1165	41	3	3939	3	EP300	22	41562645	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	2477308	41562645	9741921	306	14937										
PLXNB2	23654	genome.wustl.edu	37	chr22	50719806	50719806	+	Silent	SNP	C	C	A													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	caccagtagcagtagacagaCaccgcgatgacgaccaccat							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:50719806C>A	ENST00000449103.1	-	22	3785	c.3645G>T	c.(3643-3645)gtG>gtT	p.V1215V	PLXNB2_ENST00000359337.4_Silent_p.V1215V|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1215					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTAGACAGACACCGCGATGA	0.701																																																	0													27	39	35					22																	50719806		2187	4278	6465	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3645G>T	22.37:g.50719806C>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1215	ENST00000449103.1	37	c.3645	CCDS43035.1	22																																																																																			PLXNB2	-	NULL		0.701	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719806	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	silent	SNP	0.557	A	A	50719806	C	A	50719806	2	1	101	1	0	0	0	0	0	0	0	1	12148	465	17	4		4	PLXNB2	22	50719806	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	9157161	50719806	584760	307	14938	81	2								
PLXNB2	23654	genome.wustl.edu	37	chr22	50719808	50719808	+	Missense_Mutation	SNP	C	C	A													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ccagtagcagtagacagacaCcgcgatgacgaccaccatgg							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:50719808C>A	ENST00000449103.1	-	22	3783	c.3643G>T	c.(3643-3645)Gtg>Ttg	p.V1215L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.V1215L|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1215					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGACAGACACCGCGATGACG	0.697																																																	0													27	39	35					22																	50719808		2188	4278	6466	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3643G>T	22.37:g.50719808C>A	ENSP00000409171:p.Val1215Leu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1215L	ENST00000449103.1	37	c.3643	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	8.008	0.756962	0.15846	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03441	3.93;3.93	4.71	3.59	0.41128	.	0.283355	0.25169	N	0.032602	T	0.01765	0.0056	N	0.10809	0.05	0.34570	D	0.713281	B	0.28378	0.209	B	0.25759	0.063	T	0.45056	-0.9287	10	0.17832	T	0.49	.	4.0381	0.09738	0.2241:0.5584:0.0:0.2175	.	1215	O15031	PLXB2_HUMAN	L	1215	ENSP00000409171:V1215L;ENSP00000352288:V1215L	ENSP00000352288:V1215L	V	-	1	0	PLXNB2	49061935	0.219000	0.23619	0.879000	0.34478	0.167000	0.22549	0.712000	0.25779	2.163000	0.67991	0.561000	0.74099	GTG	PLXNB2	-	NULL		0.697	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719808	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.497	A	A	50719808	C	A	50719808	3	1	101	1	0	0	0	0	1	0	0	0	12148	507	18	4	1937	4	PLXNB2	22	50719808	Missense_Mutation	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	2	50719808	584758	308	14939	81	2								
GPR143	4935	genome.wustl.edu	37	chrX	9727434	9727434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gcatagcaaaacagccaccaGaagcaggcactgtacaacag	9	12	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:9727434G>A	ENST00000467482.1	-	3	539	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GPR143_ENST00000380929.2_Silent_p.F151F			P51810	GP143_HUMAN	G protein-coupled receptor 143	131					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				ACAGCCACCAGAAGCAGGCAC	0.507																																																	0													84	52	63					X																	9727434		2203	4298	6501	SO:0001819	synonymous_variant	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.393C>T	X.37:g.9727434G>A			Q6NTI7	Silent	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.F151	ENST00000467482.1	37	c.453	CCDS14134.2	X																																																																																			GPR143	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1		0.507	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	G	NM_000273		9727434	-1	no_errors	ENST00000380929	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9727434	G	A	9727434	2	1	101	1	0	0	0	0	0	0	0	1	6670	933	33	1		1	GPR143	23	9727434	Silent	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09		9727434	145543126	309	14940										
DDX53	168400	genome.wustl.edu	37	chrX	23019522	23019522	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	aaaatataattgttaccacaGaaaaagaaaaacgagctctc	5	7	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:23019522G>C	ENST00000327968.5	+	1	1436	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	450	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGTTACCACAGAAAAAGAAAA	0.353																																																	0													88	84	85					X																	23019522		2203	4300	6503	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1348G>C	X.37:g.23019522G>C	ENSP00000368667:p.Glu450Gln		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E450Q	ENST00000327968.5	37	c.1348	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826076	0.50739	.	.	ENSG00000184735	ENST00000327968	T	0.04862	3.54	4.19	4.19	0.49359	Helicase, C-terminal (1);	0.055343	0.64402	U	0.000001	T	0.06600	0.0169	L	0.35341	1.055	0.44668	D	0.997656	P	0.45594	0.862	B	0.40375	0.327	T	0.36138	-0.9760	10	0.49607	T	0.09	-0.4568	13.518	0.61551	0.0:0.0:1.0:0.0	.	450	Q86TM3	DDX53_HUMAN	Q	450	ENSP00000368667:E450Q	ENSP00000368667:E450Q	E	+	1	0	DDX53	22929443	1.000000	0.71417	0.216000	0.23742	0.033000	0.12548	3.554000	0.53720	1.838000	0.53458	0.513000	0.50165	GAA	DDX53	-	pfscan_Helicase_C		0.353	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	HGNC	protein_coding	OTTHUMT00000056043.1	G	NM_182699		23019522	1	no_errors	ENST00000327968	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23019522	G	C	23019522	3	2	101	1	0	0	0	0	1	0	0	0	4376	943	33	1	1350	1	DDX53	23	23019522	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	13292088	23019522	132251038	310	14941										
PDK3	5165	genome.wustl.edu	37	chrX	24523381	24523381	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cctaaacacataggaagtatCgatcccacctgtaacgtggc	8	12	0	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:24523381C>A	ENST00000379162.4	+	5	796	c.561C>A	c.(559-561)atC>atA	p.I187I	PDK3_ENST00000441463.2_Silent_p.I187I	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	187	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TAGGAAGTATCGATCCCACCT	0.458																																																	0													190	143	159					X																	24523381		2203	4300	6503	SO:0001819	synonymous_variant	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.561C>A	X.37:g.24523381C>A			B4DXG6	Silent	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.I187	ENST00000379162.4	37	c.561	CCDS14212.1	X																																																																																			PDK3	-	pfam_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd		0.458	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	C	NM_005391		24523381	1	no_errors	ENST00000441463	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24523381	C	A	24523381	2	1	101	1	0	0	0	0	0	0	0	1	11701	874	31	3		3	PDK3	23	24523381	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	1503859	24523381	130747179	311	14942										
FAM47C	442444	genome.wustl.edu	37	chrX	37027105	37027105	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	agcctcccaagactccggtgTccagtctccgcccggagcct	10	18	1	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:37027105T>A	ENST00000358047.3	+	1	674	c.622T>A	c.(622-624)Tcc>Acc	p.S208T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	208										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCCGGTGTCCAGTCTCCG	0.652																																																	0													28	30	30					X																	37027105		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.622T>A	X.37:g.37027105T>A	ENSP00000367913:p.Ser208Thr		Q6ZU46	Missense_Mutation	SNP	NULL	p.S208T	ENST00000358047.3	37	c.622	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	T	8.235	0.805537	0.16467	.	.	ENSG00000198173	ENST00000358047	T	0.19250	2.16	1.01	-0.267	0.12938	.	.	.	.	.	T	0.16938	0.0407	M	0.69823	2.125	0.09310	N	1	D	0.55172	0.97	B	0.40444	0.329	T	0.20974	-1.0259	9	0.19590	T	0.45	.	2.5909	0.04842	0.0:0.453:0.0:0.5469	.	208	Q5HY64	FA47C_HUMAN	T	208	ENSP00000367913:S208T	ENSP00000367913:S208T	S	+	1	0	FAM47C	36937026	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.299000	0.08254	0.232000	0.21100	0.229000	0.17801	TCC	FAM47C	-	NULL		0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	T	NM_001013736		37027105	1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.001	A	A	37027105	T	A	37027105	3	1	101	1	0	0	0	0	1	0	0	0	5589	1667	58	5	624	5	FAM47C	23	37027105	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	12503724	37027105	118243455	312	14943										
USP9X	8239	genome.wustl.edu	37	chrX	41047349	41047350	+	Frame_Shift_Ins	INS	-	-	TT													0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tatttagcccaaatgaagaaINSatcactaaaatttatgagaa							TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:41047349_41047350insTT	ENST00000324545.8	+	25	4422_4423	c.3789_3790insTT	c.(3790-3792)atcfs	p.I1264fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.I1264fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1264					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAATGAAGAAATCACTAAAAT	0.312																																					Ovarian(172;1807 2695 35459 49286)												0																																										SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	Exception_encountered	X.37:g.41047349_41047350insTT	ENSP00000316357:p.Ile1264fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.I1263fs	ENST00000324545.8	37	c.3789_3790	CCDS43930.1	X																																																																																			USP9X	-	NULL		0.312	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	NM_004652		41047350	1	no_errors	ENST00000324545	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	TT	TT	41047350	-	TT	41047349	7	5	101	1	0	1	1	0	0	0	0	0	17121	11	1	0	3883	0	USP9X	23	41047349	Frame_Shift_Ins	INS	-	TCGA-EK-A2PM-01A-11D-A18J-09	4020244	41047349	114223211	313	14944										
GPKOW	27238	genome.wustl.edu	37	chrX	48979986	48979986	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	cccgagtcggccagccgcctCcgtgcggacgtgcgagtgaa	15	15	0	1			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:48979986C>T	ENST00000156109.5	-	1	165	c.87G>A	c.(85-87)cgG>cgA	p.R29R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	29						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGCCGCCTCCGTGCGGACG	0.622																																																	0													24	22	23					X																	48979986		2203	4299	6502	SO:0001819	synonymous_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.87G>A	X.37:g.48979986C>T			Q59EK5|Q9BQA8	Silent	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.R29	ENST00000156109.5	37	c.87	CCDS35251.1	X																																																																																			GPKOW	-	NULL		0.622	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698		48979986	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	silent	SNP	0.956	T	T	48979986	C	T	48979986	2	4	101	1	0	0	0	0	0	0	0	1	6632	842	30	1		1	GPKOW	23	48979986	Silent	SNP	C	TCGA-EK-A2PM-01A-11D-A18J-09	7932637	48979986	106290574	314	14945										
AKAP4	8852	genome.wustl.edu	37	chrX	49957835	49957835	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tgcatgagtttccttgctttTggttccagatggttaggccc	11	9	0	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:49957835T>A	ENST00000376056.2	-	5	1652	c.1502A>T	c.(1501-1503)cAa>cTa	p.Q501L	AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510L|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501L|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTTGCTTTTGGTTCCAGAT	0.453																																																	0													218	189	199					X																	49957835		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1502A>T	X.37:g.49957835T>A	ENSP00000365224:p.Gln501Leu			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q510L	ENST00000376056.2	37	c.1529	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674434	0.47781	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.07688	3.17;3.17;3.17	4.93	4.93	0.64822	A-kinase anchor 110kDa, C-terminal (1);	0.127211	0.34750	N	0.003704	T	0.22205	0.0535	L	0.60455	1.87	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.00544	-1.1679	9	.	.	.	-12.2698	10.0346	0.42120	0.0:0.0:0.0:1.0	.	510	Q5JQC9	AKAP4_HUMAN	L	501;510;501	ENSP00000365224:Q501L;ENSP00000351327:Q510L;ENSP00000365232:Q501L	.	Q	-	2	0	AKAP4	49844575	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	4.487000	0.60293	1.634000	0.50500	0.427000	0.28365	CAA	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	T	NM_003886		49957835	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49957835	T	A	49957835	3	1	101	1	0	0	0	0	1	0	0	0	453	1812	63	5	1043	5	AKAP4	23	49957835	Missense_Mutation	SNP	T	TCGA-EK-A2PM-01A-11D-A18J-09	977849	49957835	105312725	315	14946										
GNL3L	54552	genome.wustl.edu	37	chrX	54578806	54578806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gctgagatcgttaaggaaatGaccgaggtctttgacatcga	12	7	1	3			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:54578806G>C	ENST00000336470.4	+	13	1402	c.1263G>C	c.(1261-1263)atG>atC	p.M421I	GNL3L_ENST00000360845.2_Missense_Mutation_p.M421I	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	421					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TTAAGGAAATGACCGAGGTCT	0.532																																																	0													199	149	166					X																	54578806		2203	4300	6503	SO:0001583	missense	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1263G>C	X.37:g.54578806G>C	ENSP00000338573:p.Met421Ile			Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain	p.M421I	ENST00000336470.4	37	c.1263	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525958	0.44969	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17854	2.25;2.25	3.58	3.58	0.41010	.	0.120228	0.64402	D	0.000001	T	0.15132	0.0365	L	0.49513	1.565	0.58432	D	0.999992	B	0.30634	0.288	B	0.28011	0.085	T	0.05971	-1.0853	10	0.19590	T	0.45	-19.7182	12.1483	0.54036	0.0:0.0:1.0:0.0	.	421	Q9NVN8	GNL3L_HUMAN	I	421	ENSP00000338573:M421I;ENSP00000354091:M421I	ENSP00000338573:M421I	M	+	3	0	GNL3L	54595531	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.436000	0.90300	1.730000	0.51580	0.544000	0.68410	ATG	GNL3L	-	NULL		0.532	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	G	NM_019067		54578806	1	no_errors	ENST00000336470	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54578806	G	C	54578806	3	2	101	1	0	0	0	0	1	0	0	0	6557	1290	45	1	1309	1	GNL3L	23	54578806	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	4620971	54578806	100691754	316	14947										
COL4A5	1287	genome.wustl.edu	37	chrX	107909764	107909764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ggcaaccagggcctccaggcGaaaaaggcaaacccggtcaa	12	13	1	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:107909764G>A	ENST00000361603.2	+	39	3737	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	COL4A5_ENST00000328300.6_Missense_Mutation_p.E1165K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1165	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCTCCAGGCGAAAAAGGCAA	0.458									Alport syndrome with Diffuse Leiomyomatosis																																								0													65	57	60					X																	107909764		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3493G>A	X.37:g.107909764G>A	ENSP00000354505:p.Glu1165Lys		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.E1165K	ENST00000361603.2	37	c.3493	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147881	0.78001	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93247	-3.19;-3.15	5.36	5.36	0.76844	.	0.069091	0.56097	D	0.000024	D	0.94291	0.8166	L	0.50333	1.59	0.49798	D	0.999827	D;D	0.69078	0.997;0.997	P;P	0.60012	0.867;0.867	D	0.92057	0.5653	10	0.12103	T	0.63	.	18.2087	0.89863	0.0:0.0:1.0:0.0	.	1165;1165	E7EVY4;P29400	.;CO4A5_HUMAN	K	1165	ENSP00000331902:E1165K;ENSP00000354505:E1165K	ENSP00000331902:E1165K	E	+	1	0	COL4A5	107796420	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.265000	0.89869	2.237000	0.73441	0.529000	0.55759	GAA	COL4A5	-	pfam_Collagen		0.458	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107909764	1	no_errors	ENST00000328300	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107909764	G	A	107909764	3	1	101	1	0	0	0	0	1	0	0	0	3699	1059	37	1	3647	1	COL4A5	23	107909764	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	53330958	107909764	47360796	317	14948										
SLITRK2	84631	genome.wustl.edu	37	chrX	144905849	144905849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	tcatcttatctgtctgttttGgggctggtttattcgtcttt	9	7	5	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:144905849G>A	ENST00000370490.1	+	1	6161	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G636R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G636R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G636R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G636R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	636					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTGTTTTGGGGCTGGTTT	0.433																																																	0													109	87	94					X																	144905849		2203	4300	6503	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1906G>A	X.37:g.144905849G>A	ENSP00000359521:p.Gly636Arg		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G636R	ENST00000370490.1	37	c.1906	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667987	0.47677	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.51325	0.76;0.71;0.71;0.71;0.71;0.71	5.91	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	N	0.08118	0	0.58432	D	0.999998	D	0.71674	0.998	D	0.68621	0.959	T	0.49041	-0.8980	10	0.87932	D	0	-2.828	8.2421	0.31667	0.0835:0.0:0.7606:0.1559	.	636	Q9H156	SLIK2_HUMAN	R	636	ENSP00000334374:G636R;ENSP00000411681:G636R;ENSP00000359521:G636R;ENSP00000397015:G636R;ENSP00000407347:G636R;ENSP00000412010:G636R	ENSP00000334374:G636R	G	+	1	0	SLITRK2	144713541	1.000000	0.71417	0.889000	0.34880	0.360000	0.29518	6.819000	0.75262	0.605000	0.29947	0.600000	0.82982	GGG	SLITRK2	-	NULL		0.433	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	G	NM_032539		144905849	1	no_errors	ENST00000370490	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144905849	G	A	144905849	3	1	101	1	0	0	0	0	1	0	0	0	14773	1348	47	4	1908	4	SLITRK2	23	144905849	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	36996085	144905849	10364711	318	14949										
PNMA5	114824	genome.wustl.edu	37	chrX	152158873	152158873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	ctcctctcctgcagcctgtgGcccctccctgcctggagtct	9	19	2	0			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:152158873G>T	ENST00000439251.1	-	2	1708	c.1270C>A	c.(1270-1272)Cca>Aca	p.P424T	PNMA5_ENST00000361887.5_Missense_Mutation_p.P424T|PNMA5_ENST00000535214.1_Missense_Mutation_p.P424T|PNMA5_ENST00000452693.1_Missense_Mutation_p.P424T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	424					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCCTGTGGCCCCTCCCTG	0.607																																																	0													108	87	94					X																	152158873		2203	4300	6503	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1270C>A	X.37:g.152158873G>T	ENSP00000388850:p.Pro424Thr		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.P424T	ENST00000439251.1	37	c.1270	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	g	10.26	1.301497	0.23736	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	2.74	-1.36	0.09085	.	.	.	.	.	T	0.04634	0.0126	L	0.27053	0.805	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.38436	-0.9661	9	0.39692	T	0.17	-2.4078	3.3276	0.07072	0.4371:0.2125:0.3504:0.0	.	424	Q96PV4	PNMA5_HUMAN	T	424	ENSP00000354834:P424T;ENSP00000445775:P424T;ENSP00000388850:P424T;ENSP00000392342:P424T	ENSP00000354834:P424T	P	-	1	0	PNMA5	151909529	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.443000	0.06862	-0.492000	0.06687	0.287000	0.19450	CCA	PNMA5	-	NULL		0.607	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	HGNC	protein_coding	OTTHUMT00000060925.1	G	NM_052926		152158873	-1	no_errors	ENST00000361887	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152158873	G	T	152158873	3	4	101	1	0	0	0	0	1	0	0	0	12180	1203	42	4	80	4	PNMA5	23	152158873	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	7253024	152158873	3111687	319	14950										
PNCK	139728	genome.wustl.edu	37	chrX	152935959	152935959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.330188679245283	105	1.20574185773916e-32	3.56768528026628	4.72642067043823	2.91745966563741	0.590881575738005	0.785144011597075	76	gaggcctgagtggctgtggcGggccatgccctgctcagagg	18	11	1	2			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:152935959G>T	ENST00000370150.1	-	11	1163	c.985C>A	c.(985-987)Cgc>Agc	p.R329S	PNCK_ENST00000447676.2_Missense_Mutation_p.R412S|PNCK_ENST00000370142.1_Missense_Mutation_p.R352S|PNCK_ENST00000393831.2_Missense_Mutation_p.R352S|PNCK_ENST00000340888.3_Missense_Mutation_p.R329S|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Missense_Mutation_p.R346S			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	329						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGTGGCGGGCCATGCCC	0.677																																																	0													15	17	16					X																	152935959		2180	4265	6445	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.985C>A	X.37:g.152935959G>T	ENSP00000359169:p.Arg329Ser		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	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.R412S	ENST00000370150.1	37	c.1234		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.131|3.131	-0.178377|-0.178377	0.06380|0.06380	.|.	.|.	ENSG00000130822|ENSG00000130822	ENST00000438984|ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	.|T;T;T;T;T;T	.|0.66995	.|-0.24;-0.24;0.14;0.14;-0.24;-0.22	3.73|3.73	-2.15|-2.15	0.07102|0.07102	.|Protein kinase-like domain (1);	.|1.175720	.|0.06446	.|N	.|0.726799	T|T	0.40067|0.40067	0.1102|0.1102	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.11235	.|0.004;0.0;0.0	.|B;B;B	.|0.08055	.|0.003;0.001;0.001	T|T	0.27123|0.27123	-1.0083|-1.0083	5|10	.|0.02654	.|T	.|1	-3.0727|-3.0727	0.7874|0.7874	0.01051|0.01051	0.2131:0.1428:0.2079:0.4361|0.2131:0.1428:0.2079:0.4361	.|.	.|412;346;329	.|Q6P2M8-5;B4E1A6;Q6P2M8	.|.;.;KCC1B_HUMAN	Q|S	60|329;329;352;352;346;412	.|ENSP00000340586:R329S;ENSP00000359169:R329S;ENSP00000377417:R352S;ENSP00000359161:R352S;ENSP00000359164:R346S;ENSP00000405950:R412S	.|ENSP00000340586:R329S	P|R	-|-	2|1	0|0	PNCK|PNCK	152589153|152589153	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-1.025000|-1.025000	0.03600|0.03600	-0.392000|-0.392000	0.07751|0.07751	-0.353000|-0.353000	0.07706|0.07706	CCG|CGC	PNCK	-	superfamily_Kinase-like_dom		0.677	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	G	NM_198452		152935959	-1	no_errors	ENST00000447676	ensembl	human	known	70_37	missense	SNP	0.005	T	T	152935959	G	T	152935959	3	4	101	1	0	0	0	0	1	0	0	0	12169	1116	39	2	50	2	PNCK	23	152935959	Missense_Mutation	SNP	G	TCGA-EK-A2PM-01A-11D-A18J-09	777086	152935959	2334601	320	14951										
MTHFR	4524	genome.wustl.edu	37	chr1	11861360	11861360	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttcacggcggtgctggcgatCatcatggaggaggtctcctt	14	10	4	0	rs577135269		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:11861360C>T	ENST00000376592.1	-	2	461	c.333G>A	c.(331-333)atG>atA	p.M111I	MTHFR_ENST00000376583.3_Missense_Mutation_p.M152I|MTHFR_ENST00000376590.3_Missense_Mutation_p.M111I|MTHFR_ENST00000376585.1_Missense_Mutation_p.M152I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	111					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.M111I(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TGCTGGCGATCATCATGGAGG	0.612																																																	1	Substitution - Missense(1)	NS(1)											99	85	90					1																	11861360		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.333G>A	1.37:g.11861360C>T	ENSP00000365777:p.Met111Ile		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.M152I	ENST00000376592.1	37	c.456	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608748	0.46527	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.66	1.25	0.21368	.	0.367956	0.36444	N	0.002598	T	0.80204	0.4580	N	0.12182	0.205	0.37028	D	0.896541	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.69745	-0.5062	10	0.18710	T	0.47	.	7.8308	0.29342	0.2981:0.3442:0.3577:0.0	.	111;152	P42898;Q5SNW6	MTHR_HUMAN;.	I	111;152;111;152;111	ENSP00000365777:M111I;ENSP00000365767:M152I;ENSP00000365775:M111I;ENSP00000365770:M152I;ENSP00000405082:M111I	ENSP00000365767:M152I	M	-	3	0	MTHFR	11783947	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.403000	0.34612	0.685000	0.31468	0.549000	0.68633	ATG	MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk		0.612	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	C	NM_005957		11861360	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11861360	C	T	11861360	3	4	102	1	0	0	0	0	1	0	0	0	9954	826	29	1	1677	1	MTHFR	1	11861360	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		11861360	237389261	1	14952										
CROCC	9696	genome.wustl.edu	37	chr1	17282522	17282522	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gccaatgaggacaaggagcaGaagctggcactcctagagga	14	9	0	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:17282522G>A	ENST00000375541.5	+	25	3804	c.3735G>A	c.(3733-3735)caG>caA	p.Q1245Q		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAAGGAGCAGAAGCTGGCAC	0.642																																																	0													20	19	19					1																	17282522		2063	4053	6116	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3735G>A	1.37:g.17282522G>A				Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.Q1245	ENST00000375541.5	37	c.3735	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.642	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17282522	1	no_errors	ENST00000375541	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17282522	G	A	17282522	2	1	102	1	0	0	0	0	0	0	0	1	3898	933	33	1		1	CROCC	1	17282522	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	5421162	17282522	231968099	2	14953										
SYF2	25949	genome.wustl.edu	37	chr1	25551554	25551554	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggaaggcacatgtgttccatGaagaagactattggatgttg	13	5	0	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:25551554G>A	ENST00000236273.4	-	6	530	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	SYF2_ENST00000354361.3_Missense_Mutation_p.H127Y	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	169					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TGTGTTCCATGAAGAAGACTA	0.373																																																	0													174	150	158					1																	25551554		2203	4300	6503	SO:0001583	missense	25949			AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 29"	607090	"CCNDBP1 interactor", "SYF2 homolog, RNA splicing factor (S. cerevisiae)"	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.505C>T	1.37:g.25551554G>A	ENSP00000236273:p.His169Tyr		Q5TH73	Missense_Mutation	SNP	pfam_mRNA_splic_SYF2	p.H169Y	ENST00000236273.4	37	c.505	CCDS259.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080891	0.36758	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.39787	1.06;1.07	5.63	5.63	0.86233	.	0.139890	0.64402	D	0.000004	T	0.25717	0.0626	N	0.12569	0.235	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.17979	0.02;0.004	T	0.12243	-1.0555	10	0.02654	T	1	-15.6774	18.6919	0.91586	0.0:0.0:1.0:0.0	.	169;169	B2RBX8;O95926	.;SYF2_HUMAN	Y	169;127	ENSP00000236273:H169Y;ENSP00000346330:H127Y	ENSP00000236273:H169Y	H	-	1	0	SYF2	25424141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.349000	0.66010	2.824000	0.97209	0.592000	0.82586	CAT	SYF2	-	pfam_mRNA_splic_SYF2		0.373	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYF2	HGNC	protein_coding	OTTHUMT00000101962.1	G	NM_015484		25551554	-1	no_errors	ENST00000236273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25551554	G	A	25551554	3	1	102	1	0	0	0	0	1	0	0	0	15467	1290	45	1	234	1	SYF2	1	25551554	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	8269032	25551554	223699067	3	14954										
C1orf94	84970	genome.wustl.edu	37	chr1	34667794	34667794	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gcaaccctgaaccagccactCtggctcaacctgaactatcc	6	17	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:34667794C>G	ENST00000488417.1	+	4	1500	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	C1orf94_ENST00000373374.3_Silent_p.L270L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	460										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCAGCCACTCTGGCTCAACC	0.522																																																	0													181	152	162					1																	34667794		2203	4300	6503	SO:0001819	synonymous_variant	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1380C>G	1.37:g.34667794C>G			B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	NULL	p.L460	ENST00000488417.1	37	c.1380	CCDS44108.1	1																																																																																			C1orf94	-	NULL		0.522	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	C	NM_032884		34667794	1	no_errors	ENST00000488417	ensembl	human	known	70_37	silent	SNP	0.986	G	G	34667794	C	G	34667794	2	3	102	1	0	0	0	0	0	0	0	1	2076	900	32	1		1	C1orf94	1	34667794	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	9116240	34667794	214582827	4	14955										
KIAA0754	643314	genome.wustl.edu	37	chr1	39876478	39876478	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cattaacagaaagttctggtCatttggaccacagggaacct	9	9	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:39876478C>T	ENST00000530275.1	+	1	328	c.133C>T	c.(133-135)Cat>Tat	p.H45Y	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	45	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGTTCTGGTCATTTGGACCA	0.433																																																	0													48	49	49					1																	39876478		1878	4110	5988	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.133C>T	1.37:g.39876478C>T	ENSP00000431179:p.His45Tyr		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.H45Y	ENST00000530275.1	37	c.133		1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846733	0.51164	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	4.59	4.59	0.56863	.	.	.	.	.	T	0.33933	0.0880	N	0.24115	0.695	0.20403	N	0.999906	D	0.69078	0.997	D	0.63793	0.918	T	0.12477	-1.0546	9	0.87932	D	0	.	11.6846	0.51479	0.1764:0.8236:0.0:0.0	.	45	O94854	K0754_HUMAN	Y	45	ENSP00000431179:H45Y	ENSP00000431179:H45Y	H	+	1	0	RP4-562N20.1	39649065	0.090000	0.21635	1.000000	0.80357	0.952000	0.60782	1.453000	0.35167	2.098000	0.63641	0.555000	0.69702	CAT	KIAA0754	-	NULL		0.433	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39876478	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.985	T	T	39876478	C	T	39876478	3	4	102	1	0	0	0	0	1	0	0	0	8212	826	29	1	543	1	KIAA0754	1	39876478	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	5208684	39876478	209374143	5	14956										
KIAA0754	643314	genome.wustl.edu	37	chr1	39877325	39877325	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	acagctctctgacacagactCagtgcagatgtttcttgaac	8	11	3	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:39877325C>T	ENST00000530275.1	+	1	1175	c.980C>T	c.(979-981)tCa>tTa	p.S327L	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	327										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACAGACTCAGTGCAGATG	0.448											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													145	140	141					1																	39877325		1932	4148	6080	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.980C>T	1.37:g.39877325C>T	ENSP00000431179:p.Ser327Leu	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.S327L	ENST00000530275.1	37	c.980		1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976028	0.92982	.	.	ENSG00000255103	ENST00000530275	D	0.86497	-2.13	5.14	5.14	0.70334	.	.	.	.	.	D	0.90048	0.6892	L	0.27053	0.805	0.31874	N	0.619335	D	0.89917	1.0	D	0.91635	0.999	D	0.90686	0.4609	9	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	327	O94854	K0754_HUMAN	L	327	ENSP00000431179:S327L	ENSP00000431179:S327L	S	+	2	0	RP4-562N20.1	39649912	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.069000	0.71209	2.398000	0.81561	0.655000	0.94253	TCA	KIAA0754	-	NULL		0.448	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39877325	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39877325	C	T	39877325	3	4	102	1	0	0	0	0	1	0	0	0	8212	838	29	1	1390	1	KIAA0754	1	39877325	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	847	39877325	209373296	6	14957										
ZCCHC11	23318	genome.wustl.edu	37	chr1	52926861	52926861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gcactctaggatcaatagctGcataagtagctagcattctt	8	9	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:52926861G>T	ENST00000371544.3	-	19	3528	c.3266C>A	c.(3265-3267)gCa>gAa	p.A1089E	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.A1089E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1089					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCAATAGCTGCATAAGTAGC	0.279																																																	0													107	107	107					1																	52926861		2203	4289	6492	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3266C>A	1.37:g.52926861G>T	ENSP00000360599:p.Ala1089Glu		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.A1089E	ENST00000371544.3	37	c.3266	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987944	0.93106	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.968;0.998	T	0.76285	-0.3015	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	848;1089	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	1089;1089;1018;848	ENSP00000257177:A1089E;ENSP00000360599:A1089E;ENSP00000433486:A1018E;ENSP00000435256:A848E	ENSP00000257177:A1089E	A	-	2	0	ZCCHC11	52699449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.873000	0.98535	0.563000	0.77884	GCA	ZCCHC11	-	NULL		0.279	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	G	XM_038288		52926861	-1	no_errors	ENST00000257177	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52926861	G	T	52926861	3	4	102	1	0	0	0	0	1	0	0	0	17610	1319	46	4	1719	4	ZCCHC11	1	52926861	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	13049536	52926861	196323760	7	14958										
COL11A1	1301	genome.wustl.edu	37	chr1	103440391	103440391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agctctgacacttacaggagGgccttttggtccagggaatc	12	10	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:103440391G>T	ENST00000370096.3	-	36	3115	c.2803C>A	c.(2803-2805)Cct>Act	p.P935T	COL11A1_ENST00000358392.2_Missense_Mutation_p.P947T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P819T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P896T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	935	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P935T(1)|p.P947T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTACAGGAGGGCCTTTTGGT	0.383																																																	2	Substitution - Missense(2)	lung(2)											59	67	65					1																	103440391		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2803C>A	1.37:g.103440391G>T	ENSP00000359114:p.Pro935Thr		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.P947T	ENST00000370096.3	37	c.2839	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505207	0.64410	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.35	5.35	0.76521	.	0.196102	0.44902	D	0.000411	T	0.55305	0.1912	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.999	D;D;D;D;D	0.80764	0.981;0.991;0.994;0.981;0.991	T	0.58842	-0.7565	10	0.87932	D	0	.	17.6337	0.88116	0.0:0.0:1.0:0.0	.	819;896;947;935;155	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	935;947;896;155;819	ENSP00000359114:P935T;ENSP00000351163:P947T;ENSP00000302551:P896T;ENSP00000426533:P819T	ENSP00000302551:P896T	P	-	1	0	COL11A1	103212979	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.814000	0.91968	2.503000	0.84419	0.585000	0.79938	CCT	COL11A1	-	NULL		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103440391	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103440391	G	T	103440391	3	4	102	1	0	0	0	0	1	0	0	0	3672	1232	43	4	2745	4	COL11A1	1	103440391	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	50513530	103440391	145810230	8	14959										
HSD3B1	3283	genome.wustl.edu	37	chr1	120056573	120056573	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aaatcatccagaatggccatGaagaagagcctctggaaaac	9	9	2	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:120056573G>T	ENST00000369413.3	+	4	572	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.E143*|HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.E145*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	143					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GAATGGCCATGAAGAAGAGCC	0.517																																																	0													123	125	124					1																	120056573		2203	4300	6503	SO:0001587	stop_gained	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.427G>T	1.37:g.120056573G>T	ENSP00000358421:p.Glu143*		A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.E145*	ENST00000369413.3	37	c.433	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941073	0.53079	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.8551	13.2928	0.60280	0.0:0.0:1.0:0.0	.	.	.	.	X	143;145;143	.	ENSP00000235547:E145X	E	+	1	0	HSD3B1	119858096	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	7.133000	0.77259	2.033000	0.60031	0.491000	0.48974	GAA	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct		0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	G	NM_000862		120056573	1	no_errors	ENST00000235547	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	120056573	G	T	120056573	4	4	102	1	0	0	0	0	0	1	0	0	7410	1291	45	3	437	3	HSD3B1	1	120056573	Nonsense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	16616182	120056573	129194048	9	14960										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144874776	144874776	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccagttcatcagacaggaaaGaggtgctgctgggagagcgg	16	8	2	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:144874776G>C	ENST00000369354.3	-	30	5021	c.4832C>G	c.(4831-4833)tCt>tGt	p.S1611C	AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1611C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1567C|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1747C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1747C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1611	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGACAGGAAAGAGGTGCTGCT	0.542			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													270	256	261					1																	144874776		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4832C>G	1.37:g.144874776G>C	ENSP00000358360:p.Ser1611Cys		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S1611C	ENST00000369354.3	37	c.4832	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239454	0.79800	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02579	4.24;4.41;4.4;4.36;4.38	5.91	5.0	0.66597	DUF1220 (2);	.	.	.	.	T	0.07593	0.0191	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.03077	-1.1075	9	0.87932	D	0	.	14.3418	0.66633	0.0:0.0:0.8508:0.1492	.	1567;1611	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	C	1567;1611;1611;1747;1747	ENSP00000327209:S1567C;ENSP00000358360:S1611C;ENSP00000358363:S1611C;ENSP00000435654:S1747C;ENSP00000358366:S1747C	ENSP00000327209:S1567C	S	-	2	0	PDE4DIP	143586133	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.169000	0.94788	1.497000	0.48584	0.650000	0.86243	TCT	PDE4DIP	-	NULL		0.542	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144874776	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144874776	G	C	144874776	3	2	102	1	0	0	0	0	1	0	0	0	11667	942	33	1	2268	1	PDE4DIP	1	144874776	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	24818203	144874776	104375845	10	14961										
CHRNB2	1141	genome.wustl.edu	37	chr1	154548324	154548324	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gtctgtgtctttggcaccatCggcatgttcctgcagcctct	10	13	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:154548324C>T	ENST00000368476.3	+	6	1689	c.1425C>T	c.(1423-1425)atC>atT	p.I475I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	475					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TTGGCACCATCGGCATGTTCC	0.562																																																	0													330	239	270					1																	154548324		2203	4300	6503	SO:0001819	synonymous_variant	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1425C>T	1.37:g.154548324C>T			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I475	ENST00000368476.3	37	c.1425	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.562	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	C	NM_000748		154548324	1	no_errors	ENST00000368476	ensembl	human	known	70_37	silent	SNP	0.375	T	T	154548324	C	T	154548324	2	4	102	1	0	0	0	0	0	0	0	1	3396	874	31	1		1	CHRNB2	1	154548324	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	9673548	154548324	94702297	11	14962										
SPTA1	6708	genome.wustl.edu	37	chr1	158582665	158582665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctgccagggcttggaaggcaTtctctatttcatcactggac	10	11	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:158582665T>C	ENST00000368147.4	-	51	7256	c.7076A>G	c.(7075-7077)aAt>aGt	p.N2359S	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2359	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGAAGGCATTCTCTATTTC	0.458																																																	0													125	121	123					1																	158582665		1948	4150	6098	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7076A>G	1.37:g.158582665T>C	ENSP00000357129:p.Asn2359Ser		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.N2359S	ENST00000368147.4	37	c.7076	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	0.194	-1.050345	0.01981	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.41400	1.0;1.0	5.39	-0.748	0.11087	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.478727	0.15541	N	0.256935	T	0.06781	0.0173	N	0.16066	0.365	0.27257	N	0.958726	B	0.14012	0.009	B	0.16722	0.016	T	0.43196	-0.9406	10	0.02654	T	1	.	12.5063	0.55984	0.0:0.656:0.0:0.344	.	2359	P02549	SPTA1_HUMAN	S	2359;2356	ENSP00000357130:N2359S;ENSP00000357129:N2356S	ENSP00000357129:N2356S	N	-	2	0	SPTA1	156849289	1.000000	0.71417	0.119000	0.21687	0.461000	0.32589	1.265000	0.33027	-0.239000	0.09710	-0.256000	0.11100	AAT	SPTA1	-	pfam_EF-hand_Ca_insen		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	T	NM_003126		158582665	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	0.773	C	C	158582665	T	C	158582665	3	2	102	1	0	0	0	0	1	0	0	0	15146	1493	52	5	191	5	SPTA1	1	158582665	Missense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09	4034341	158582665	90667956	12	14963										
IGSF8	93185	genome.wustl.edu	37	chr1	160062257	160062257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gctctacgctgacagggcctCctccaggccggactcccagc	11	18	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr1:160062257C>T	ENST00000368086.1	-	5	1757	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.G514E			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	514	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACAGGGCCTCCTCCAGGCCG	0.672																																																	0													31	32	32					1																	160062257		2203	4300	6503	SO:0001583	missense	93185			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1541G>A	1.37:g.160062257C>T	ENSP00000357065:p.Gly514Glu		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G514E	ENST00000368086.1	37	c.1541	CCDS1195.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463564	0.63513	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.04758	3.56;3.56	2.76	2.76	0.32466	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.932533	0.08839	U	0.886174	T	0.05914	0.0154	L	0.41824	1.3	0.44402	D	0.997314	D	0.89917	1.0	D	0.72075	0.976	T	0.51545	-0.8692	10	0.12766	T	0.61	-7.0138	12.3329	0.55049	0.0:1.0:0.0:0.0	.	514	Q969P0	IGSF8_HUMAN	E	514	ENSP00000316664:G514E;ENSP00000357065:G514E	ENSP00000316664:G514E	G	-	2	0	IGSF8	158328881	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.582000	0.67477	1.358000	0.45922	0.400000	0.26472	GGA	IGSF8	-	smart_Ig_sub		0.672	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	C	NM_052868		160062257	-1	no_errors	ENST00000314485	ensembl	human	known	70_37	missense	SNP	1.000	T	T	160062257	C	T	160062257	3	4	102	1	0	0	0	0	1	0	0	0	7624	855	30	1	308	1	IGSF8	1	160062257	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	1479592	160062257	89188364	13	14964										
MSH2	4436	genome.wustl.edu	37	chr2	47630504	47630504	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctggccgcccgggaggtgttCaagacccagggggtgatcaa	16	11	2	2	rs372189599		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:47630504C>G	ENST00000233146.2	+	1	397	c.174C>G	c.(172-174)ttC>ttG	p.F58L	MSH2_ENST00000406134.1_Missense_Mutation_p.F58L|MSH2_ENST00000543555.1_5'UTR	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	58					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGGAGGTGTTCAAGACCCAGG	0.706			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											10	13	12					2																	47630504		2193	4287	6480	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.174C>G	2.37:g.47630504C>G	ENSP00000233146:p.Phe58Leu		B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.F58L	ENST00000233146.2	37	c.174	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	c	35	5.476556	0.96291	.	.	ENSG00000095002	ENST00000233146;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D	0.88664	-2.41;-2.41	5.46	3.64	0.41730	DNA mismatch repair protein MutS-like, N-terminal (1);	0.054446	0.85682	D	0.000000	D	0.93677	0.7980	M	0.81614	2.55	0.80722	D	1	D;P;D	0.89917	1.0;0.76;1.0	D;P;D	0.83275	0.996;0.484;0.992	D	0.93886	0.7175	10	0.72032	D	0.01	-13.3245	11.5733	0.50848	0.0:0.8483:0.0:0.1517	.	58;58;58	E7EQQ1;E9PHA6;P43246	.;.;MSH2_HUMAN	L	58	ENSP00000233146:F58L;ENSP00000384199:F58L	ENSP00000233146:F58L	F	+	3	2	MSH2	47484008	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.500000	0.53318	1.318000	0.45170	-0.168000	0.13345	TTC	MSH2	-	pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2		0.706	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	C			47630504	1	no_errors	ENST00000233146	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47630504	C	G	47630504	3	3	102	1	0	0	0	0	1	0	0	0	9893	825	29	1	176	1	MSH2	2	47630504	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		47630504	195568869	14	14965										
ZEB2	9839	genome.wustl.edu	37	chr2	145157027	145157027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atgaaaatggagtggatatgTtgtggttctcaatcattttg	11	3	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:145157027T>C	ENST00000558170.2	-	8	2911	c.1727A>G	c.(1726-1728)aAc>aGc	p.N576S	ZEB2_ENST00000303660.4_Missense_Mutation_p.N576S|ZEB2_ENST00000539609.3_Missense_Mutation_p.N552S|ZEB2_ENST00000409487.3_Missense_Mutation_p.N576S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	576					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.N576S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTGGATATGTTGTGGTTCTC	0.383																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	lung(1)											199	200	200					2																	145157027		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1727A>G	2.37:g.145157027T>C	ENSP00000454157:p.Asn576Ser		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.N576S	ENST00000558170.2	37	c.1727	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193492	0.09599	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.74	-4.46	0.03536	.	0.549745	0.22268	N	0.062307	T	0.47911	0.1471	N	0.02539	-0.55	0.32074	N	0.593976	B;B;B;B	0.15473	0.013;0.002;0.0;0.0	B;B;B;B	0.17979	0.02;0.002;0.0;0.002	T	0.34502	-0.9826	10	0.19147	T	0.46	-1.1236	13.6597	0.62359	0.0:0.5289:0.0:0.4711	.	552;441;575;576	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	552;576;576;576	ENSP00000443792:N552S;ENSP00000302501:N576S;ENSP00000386854:N576S;ENSP00000395496:N576S	ENSP00000302501:N576S	N	-	2	0	ZEB2	144873497	0.994000	0.37717	0.888000	0.34837	0.949000	0.60115	0.433000	0.21477	-0.883000	0.03982	-0.256000	0.11100	AAC	ZEB2	-	NULL		0.383	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	T	NM_014795		145157027	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	0.869	C	C	145157027	T	C	145157027	3	2	102	1	0	0	0	0	1	0	0	0	17654	1725	60	5	1929	5	ZEB2	2	145157027	Missense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09	97526523	145157027	98042346	15	14966										
SCN2A	6326	genome.wustl.edu	37	chr2	166165187	166165187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttctctcaggtatacctttaCaggaatttatacttttgaat	5	7	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:166165187C>A	ENST00000375437.2	+	5	778	c.488C>A	c.(487-489)aCa>aAa	p.T163K	SCN2A_ENST00000357398.3_Missense_Mutation_p.T163K|SCN2A_ENST00000283256.6_Missense_Mutation_p.T163K|SCN2A_ENST00000375427.2_Missense_Mutation_p.T163K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	163					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TATACCTTTACAGGAATTTAT	0.308																																																	0													68	74	72					2																	166165187		2199	4296	6495	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.488C>A	2.37:g.166165187C>A	ENSP00000364586:p.Thr163Lys		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T163K	ENST00000375437.2	37	c.488	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912114	0.72983	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99548	0.9838	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97971	1.0343	10	0.87932	D	0	.	19.9066	0.97010	0.0:1.0:0.0:0.0	.	163;163	Q99250-2;Q99250	.;SCN2A_HUMAN	K	163	ENSP00000406454:T163K;ENSP00000364586:T163K;ENSP00000349973:T163K;ENSP00000283256:T163K;ENSP00000364576:T163K	ENSP00000283256:T163K	T	+	2	0	SCN2A	165873433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.785000	0.95823	0.650000	0.86243	ACA	SCN2A	-	pfam_Ion_trans_dom		0.308	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166165187	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166165187	C	A	166165187	3	1	102	1	0	0	0	0	1	0	0	0	13946	478	17	4	502	4	SCN2A	2	166165187	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	21008160	166165187	77034186	16	14967										
AGPS	8540	genome.wustl.edu	37	chr2	178362425	178362425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttctcttcttaggtcatgctCttaaacctcaggtttcctct	5	12	6	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:178362425C>G	ENST00000264167.4	+	13	1440	c.1294C>G	c.(1294-1296)Ctt>Gtt	p.L432V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	432					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGGTCATGCTCTTAAACCTCA	0.269																																																	0													48	49	48					2																	178362425		2195	4284	6479	SO:0001583	missense	8540			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1294C>G	2.37:g.178362425C>G	ENSP00000264167:p.Leu432Val		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.L432V	ENST00000264167.4	37	c.1294	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276907	0.80580	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.88664	-2.41	5.12	5.12	0.69794	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.124326	0.56097	D	0.000027	D	0.94417	0.8204	M	0.89414	3.03	0.80722	D	1	P	0.50369	0.934	P	0.56216	0.794	D	0.95236	0.8347	10	0.66056	D	0.02	.	18.5216	0.90954	0.0:1.0:0.0:0.0	.	432	O00116	ADAS_HUMAN	V	432;302	ENSP00000264167:L432V	ENSP00000264167:L432V	L	+	1	0	AGPS	178070671	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.249000	0.65427	2.389000	0.81357	0.484000	0.47621	CTT	AGPS	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C		0.269	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	C			178362425	1	no_errors	ENST00000264167	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178362425	C	G	178362425	3	3	102	1	0	0	0	0	1	0	0	0	394	913	32	1	1344	1	AGPS	2	178362425	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	12197238	178362425	64836948	17	14968										
PLCL1	5334	genome.wustl.edu	37	chr2	198949616	198949616	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atgaaccaatcctttgtaatCgaaataacatgacaacccat	4	10	0	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:198949616C>T	ENST00000428675.1	+	2	1773	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R361*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	459	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCTTTGTAATCGAAATAACAT	0.388																																																	0													55	53	54					2																	198949616		2203	4300	6503	SO:0001587	stop_gained	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1375C>T	2.37:g.198949616C>T	ENSP00000402861:p.Arg459*		Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R459*	ENST00000428675.1	37	c.1375	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	35	5.480855	0.96307	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.94	1.58	0.23477	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1098	0.81255	0.561:0.439:0.0:0.0	.	.	.	.	X	459;361	.	.	R	+	1	2	PLCL1	198657861	0.998000	0.40836	0.993000	0.49108	0.959000	0.62525	1.908000	0.39907	-0.021000	0.14009	-0.397000	0.06425	CGA	PLCL1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	C	NM_006226		198949616	1	no_errors	ENST00000428675	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	198949616	C	T	198949616	4	4	102	1	0	0	0	0	0	1	0	0	12063	876	31	1	1381	1	PLCL1	2	198949616	Nonsense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	20587191	198949616	44249757	18	14969										
FAM126B	285172	genome.wustl.edu	37	chr2	201846414	201846414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tctcactggatttgatggcaGaggctgtttctttatccttg	10	8	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:201846414G>A	ENST00000418596.3	-	12	1359	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	391						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTTGATGGCAGAGGCTGTTTC	0.483																																																	0													107	106	106					2																	201846414		2203	4300	6503	SO:0001583	missense	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1172C>T	2.37:g.201846414G>A	ENSP00000393667:p.Ser391Phe		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.S391F	ENST00000418596.3	37	c.1172	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732666	0.30684	.	.	ENSG00000155744	ENST00000418596	T	0.78126	-1.15	5.76	4.87	0.63330	.	0.443664	0.24945	N	0.034344	T	0.67951	0.2948	N	0.22421	0.69	0.26354	N	0.977165	B;B	0.33379	0.41;0.41	B;B	0.35510	0.204;0.135	T	0.61946	-0.6958	10	0.42905	T	0.14	-6.4639	15.2464	0.73509	0.0684:0.0:0.9316:0.0	.	197;391	B3KUG1;Q8IXS8	.;F126B_HUMAN	F	391	ENSP00000393667:S391F	ENSP00000393667:S391F	S	-	2	0	FAM126B	201554659	0.987000	0.35691	0.990000	0.47175	0.994000	0.84299	3.690000	0.54713	1.400000	0.46741	0.655000	0.94253	TCT	FAM126B	-	NULL		0.483	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	G	NM_173822		201846414	-1	no_errors	ENST00000418596	ensembl	human	known	70_37	missense	SNP	0.616	A	A	201846414	G	A	201846414	3	1	102	1	0	0	0	0	1	0	0	0	5445	942	33	1	424	1	FAM126B	2	201846414	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	2896798	201846414	41352959	19	14970										
ALS2CR8	79800	genome.wustl.edu	37	chr2	203807466	203807466	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttttttccttacaaaagcatCtaatctgtatggactccagg	6	9	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:203807466C>G	ENST00000402905.3	+	4	403	c.82C>G	c.(82-84)Cta>Gta	p.L28V	CARF_ENST00000545253.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.L16V|CARF_ENST00000444724.1_Missense_Mutation_p.L28V|CARF_ENST00000545262.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.L28V|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.L28V	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	28					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAAAAGCATCTAATCTGTAT	0.318																																																	0													48	44	45					2																	203807466		1827	4081	5908	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.82C>G	2.37:g.203807466C>G	ENSP00000384006:p.Leu28Val		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.L28V	ENST00000402905.3	37	c.82	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585356	0.28268	.	.	ENSG00000138380	ENST00000402905;ENST00000414490;ENST00000444724;ENST00000414857;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000456821;ENST00000320443;ENST00000438828	.	.	.	5.64	3.84	0.44239	.	0.268793	0.26217	N	0.025657	T	0.25644	0.0624	L	0.52364	1.645	0.21105	N	0.999787	P;B;B	0.35872	0.525;0.027;0.275	B;B;B	0.30495	0.116;0.025;0.116	T	0.15321	-1.0441	9	0.34782	T	0.22	-3.0263	5.2554	0.15544	0.0:0.6533:0.1698:0.1768	.	28;28;28	B4DRP6;Q8N187;F6SXV3	.;AL2S8_HUMAN;.	V	28;28;28;28;28;28;28;16;28;28	.	ENSP00000316224:L28V	L	+	1	2	ALS2CR8	203515711	0.035000	0.19736	0.981000	0.43875	0.896000	0.52359	0.031000	0.13710	1.386000	0.46466	0.563000	0.77884	CTA	ALS2CR8	-	NULL		0.318	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	C	NM_001104586		203807466	1	no_errors	ENST00000320443	ensembl	human	known	70_37	missense	SNP	0.894	G	G	203807466	C	G	203807466	3	3	102	1	0	0	0	0	1	0	0	0	555	912	32	1	88	1	ALS2CR8	2	203807466	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	1961052	203807466	39391907	20	14971										
CRYBA2	1412	genome.wustl.edu	37	chr2	219855001	219855001	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tggactctccggatggactgCagctgcccagtgtgggcctg	15	12	1	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:219855001C>A	ENST00000295728.2	-	4	803	c.567G>T	c.(565-567)ctG>ctT	p.L189L	CRYBA2_ENST00000392096.2_Silent_p.L189L|CRYBA2_ENST00000487181.1_5'UTR	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	189	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGGACTGCAGCTGCCCAG	0.602																																																	0													107	99	102					2																	219855001		2203	4300	6503	SO:0001819	synonymous_variant	1412				CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.567G>T	2.37:g.219855001C>A			Q4ZFX0|Q9Y562	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.L189	ENST00000295728.2	37	c.567	CCDS2429.1	2																																																																																			CRYBA2	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.602	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRYBA2	HGNC	protein_coding	OTTHUMT00000336424.1	C	NM_057093		219855001	-1	no_errors	ENST00000295728	ensembl	human	known	70_37	silent	SNP	1.000	A	A	219855001	C	A	219855001	2	1	102	1	0	0	0	0	0	0	0	1	3913	697	25	4		4	CRYBA2	2	219855001	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	16047535	219855001	23344372	21	14972										
EPHA4	2043	genome.wustl.edu	37	chr2	222298944	222298944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttccatagctccatacatcaCttgctgatgtgaatttacga	6	10	1	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:222298944C>T	ENST00000281821.2	-	14	2455	c.2414G>A	c.(2413-2415)aGt>aAt	p.S805N	EPHA4_ENST00000409854.1_Missense_Mutation_p.S805N|EPHA4_ENST00000392071.4_Missense_Mutation_p.S754N|EPHA4_ENST00000409938.1_Missense_Mutation_p.S805N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCATACATCACTTGCTGATGT	0.448																																																	0													199	181	187					2																	222298944		2203	4300	6503	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2414G>A	2.37:g.222298944C>T	ENSP00000281821:p.Ser805Asn		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S805N	ENST00000281821.2	37	c.2414	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.421912	0.96111	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.080905	0.85682	D	0.000000	D	0.96405	0.8827	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97001	0.9729	10	0.87932	D	0	.	19.8381	0.96666	0.0:1.0:0.0:0.0	.	805	P54764	EPHA4_HUMAN	N	805;805;805;754	ENSP00000281821:S805N;ENSP00000386276:S805N;ENSP00000386829:S805N;ENSP00000375923:S754N	ENSP00000281821:S805N	S	-	2	0	EPHA4	222007188	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.907000	0.69908	2.692000	0.91855	0.650000	0.86243	AGT	EPHA4	-	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222298944	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	222298944	C	T	222298944	3	4	102	1	0	0	0	0	1	0	0	0	5181	565	20	4	562	4	EPHA4	2	222298944	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	2443943	222298944	20900429	22	14973										
CHRNG	1146	genome.wustl.edu	37	chr2	233407755	233407755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gccccctgtgtgctcatctcCtctgtcgccatcctcatcca	6	19	4	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr2:233407755C>T	ENST00000389494.3	+	7	789	c.768C>T	c.(766-768)tcC>tcT	p.S256S	CHRNG_ENST00000389492.3_Silent_p.S204S	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	256					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.S256S(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TGCTCATCTCCTCTGTCGCCA	0.602																																																	1	Substitution - coding silent(1)	endometrium(1)											286	229	249					2																	233407755		2203	4300	6503	SO:0001819	synonymous_variant	1146			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.768C>T	2.37:g.233407755C>T			B3KWM8|Q14DU4|Q53RG2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S256	ENST00000389494.3	37	c.768	CCDS33400.1	2																																																																																			CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.602	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	C	NM_005199		233407755	1	no_errors	ENST00000389494	ensembl	human	known	70_37	silent	SNP	1.000	T	T	233407755	C	T	233407755	2	4	102	1	0	0	0	0	0	0	0	1	3401	668	24	4		4	CHRNG	2	233407755	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	11108811	233407755	9791618	23	14974										
PLCL2	23228	genome.wustl.edu	37	chr3	17052521	17052521	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctaccatccccagatgtcctGaaagggaaaatactaattaa	6	10	0	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:17052521G>A	ENST00000418129.2	+	2	1770	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L	PLCL2_ENST00000432376.1_Silent_p.L435L|PLCL2_ENST00000396755.2_Silent_p.L435L|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	561	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGATGTCCTGAAAGGGAAAA	0.408																																																	0													39	40	39					3																	17052521		2203	4300	6503	SO:0001819	synonymous_variant	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1305G>A	3.37:g.17052521G>A			A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L435	ENST00000418129.2	37	c.1305	CCDS33713.1	3																																																																																			PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.408	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17052521	1	no_errors	ENST00000418129	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17052521	G	A	17052521	2	1	102	1	0	0	0	0	0	0	0	1	12064	1277	45	1		1	PLCL2	3	17052521	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		17052521	180969909	24	14975										
SLC4A7	9497	genome.wustl.edu	37	chr3	27427470	27427470	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	caactaagttctctcttcgtGaaacacaggtccatgagttt	7	10	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:27427470G>A	ENST00000295736.5	-	23	3448	c.3378C>T	c.(3376-3378)ttC>ttT	p.F1126F	SLC4A7_ENST00000437179.1_Silent_p.F1007F|SLC4A7_ENST00000388777.4_Silent_p.F676F|SLC4A7_ENST00000454389.1_Silent_p.F1135F|SLC4A7_ENST00000455077.1_Silent_p.F1007F|SLC4A7_ENST00000435667.2_Silent_p.F1011F|SLC4A7_ENST00000440156.1_Silent_p.F1122F|SLC4A7_ENST00000445684.1_Silent_p.F1122F|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.F1002F|SLC4A7_ENST00000446700.1_Silent_p.F1118F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1126					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTCTCTTCGTGAAACACAGGT	0.338																																																	0													122	130	127					3																	27427470		2203	4300	6503	SO:0001819	synonymous_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3378C>T	3.37:g.27427470G>A			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F1135	ENST00000295736.5	37	c.3405	CCDS33721.1	3																																																																																			SLC4A7	-	tigrfam_HCO3_transpt_euk		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	G	NM_003615		27427470	-1	no_errors	ENST00000454389	ensembl	human	known	70_37	silent	SNP	0.998	A	A	27427470	G	A	27427470	2	1	102	1	0	0	0	0	0	0	0	1	14688	1281	45	1		1	SLC4A7	3	27427470	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	10374949	27427470	170594960	25	14976			1	62		2	2	16	G		6.54118e-05
SLC4A7	9497	genome.wustl.edu	37	chr3	27427485	27427485	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttcgtgaaacacaggtccatGagtttgcgcacaaacactaa	8	10	0	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:27427485G>T	ENST00000295736.5	-	23	3433	c.3363C>A	c.(3361-3363)ctC>ctA	p.L1121L	SLC4A7_ENST00000437179.1_Silent_p.L1002L|SLC4A7_ENST00000388777.4_Silent_p.L671L|SLC4A7_ENST00000454389.1_Silent_p.L1130L|SLC4A7_ENST00000455077.1_Silent_p.L1002L|SLC4A7_ENST00000435667.2_Silent_p.L1006L|SLC4A7_ENST00000440156.1_Silent_p.L1117L|SLC4A7_ENST00000445684.1_Silent_p.L1117L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.L997L|SLC4A7_ENST00000446700.1_Silent_p.L1113L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1121					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACAGGTCCATGAGTTTGCGCA	0.343																																																	0													117	126	123					3																	27427485		2203	4300	6503	SO:0001819	synonymous_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3363C>A	3.37:g.27427485G>T			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.L1130	ENST00000295736.5	37	c.3390	CCDS33721.1	3																																																																																			SLC4A7	-	tigrfam_HCO3_transpt_euk		0.343	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	G	NM_003615		27427485	-1	no_errors	ENST00000454389	ensembl	human	known	70_37	silent	SNP	0.999	T	T	27427485	G	T	27427485	2	4	102	1	0	0	0	0	0	0	0	1	14688	1277	45	3		3	SLC4A7	3	27427485	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	15	27427485	170594945	26	14977			1	62		2	2	16	G		6.54118e-05
OXSR1	9943	genome.wustl.edu	37	chr3	38265307	38265307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	caaatctgttttgcaggtccGtggttatgatttcaaagctg	10	7	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:38265307G>A	ENST00000446845.1	+	7	977	c.605G>A	c.(604-606)cGt>cAt	p.R202H	OXSR1_ENST00000311806.3_Missense_Mutation_p.R202H					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTGCAGGTCCGTGGTTATGAT	0.413																																																	0													99	99	99					3																	38265307		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.605G>A	3.37:g.38265307G>A	ENSP00000415851:p.Arg202His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R202H	ENST00000446845.1	37	c.605		3	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339935	0.41398	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.66815	-0.23;-0.23	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.194570	0.42294	D	0.000722	T	0.72732	0.3497	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.72338	0.977;0.958	T	0.65109	-0.6248	10	0.02654	T	1	-9.683	18.307	0.90185	0.0:0.0:1.0:0.0	.	202;202	C9JIG9;O95747	.;OXSR1_HUMAN	H	202	ENSP00000415851:R202H;ENSP00000311713:R202H	ENSP00000311713:R202H	R	+	2	0	OXSR1	38240311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.565000	0.82337	2.658000	0.90341	0.655000	0.94253	CGT	OXSR1	-	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		0.413	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	G	NM_005109		38265307	1	no_errors	ENST00000311806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38265307	G	A	38265307	3	1	102	1	0	0	0	0	1	0	0	0	11360	1145	40	2	631	2	OXSR1	3	38265307	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	10837822	38265307	159757123	27	14978										
ZBTB47	92999	genome.wustl.edu	37	chr3	42700666	42700666	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggccgggaggacgggctgcaGagacactcggacgaggagga	20	9	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:42700666G>C	ENST00000232974.6	+	2	1100	c.819G>C	c.(817-819)caG>caC	p.Q273H	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	273	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ACGGGCTGCAGAGACACTCgg	0.657																																																	0													20	29	26					3																	42700666		692	1591	2283	SO:0001583	missense	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.819G>C	3.37:g.42700666G>C	ENSP00000232974:p.Gln273His		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q273H	ENST00000232974.6	37	c.819	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	8.894	0.954807	0.18431	.	.	ENSG00000114853	ENST00000232974;ENST00000542870	T	0.70749	-0.51	4.08	2.28	0.28536	.	1.036150	0.07612	N	0.925472	T	0.65450	0.2692	N	0.22421	0.69	0.80722	D	1	D	0.56521	0.976	P	0.53266	0.722	T	0.55970	-0.8056	10	0.40728	T	0.16	-15.373	6.2535	0.20861	0.2402:0.1355:0.6243:0.0	.	273	F5H6L2	.	H	273	ENSP00000232974:Q273H	ENSP00000232974:Q273H	Q	+	3	2	ZBTB47	42675670	0.986000	0.35501	1.000000	0.80357	0.093000	0.18481	1.093000	0.30939	0.489000	0.27749	0.542000	0.68232	CAG	ZBTB47	-	NULL		0.657	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700666	1	no_errors	ENST00000232974	ensembl	human	known	70_37	missense	SNP	0.863	C	C	42700666	G	C	42700666	3	2	102	1	0	0	0	0	1	0	0	0	17578	933	33	1	821	1	ZBTB47	3	42700666	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	4435359	42700666	155321764	28	14979										
ZBTB47	92999	genome.wustl.edu	37	chr3	42701164	42701164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aagcagcaccatccatgccaGaagtgcccacgagttttcaa	8	13	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:42701164G>C	ENST00000232974.6	+	2	1598	c.1317G>C	c.(1315-1317)caG>caC	p.Q439H	ZBTB47_ENST00000457842.3_Missense_Mutation_p.Q63H|ZBTB47_ENST00000505904.1_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ATCCATGCCAGAAGTGCCCAC	0.622																																																	0													37	45	42					3																	42701164		2082	4237	6319	SO:0001583	missense	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1317G>C	3.37:g.42701164G>C	ENSP00000232974:p.Gln439His		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q439H	ENST00000232974.6	37	c.1317	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	7.314	0.615566	0.14129	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842	T;T	0.77229	-1.08;-1.08	4.13	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.264554	0.36002	N	0.002860	T	0.72463	0.3463	N	0.25094	0.71	0.41596	D	0.988829	P	0.40731	0.728	P	0.46110	0.504	T	0.76399	-0.2973	10	0.49607	T	0.09	-47.5098	16.5902	0.84763	0.0:0.0:1.0:0.0	.	63	Q9UFB7	ZBT47_HUMAN	H	439;338;63	ENSP00000232974:Q439H;ENSP00000411491:Q63H	ENSP00000232974:Q439H	Q	+	3	2	ZBTB47	42676168	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	3.226000	0.51254	2.125000	0.65367	0.557000	0.71058	CAG	ZBTB47	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.622	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42701164	1	no_errors	ENST00000232974	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42701164	G	C	42701164	3	2	102	1	0	0	0	0	1	0	0	0	17578	933	33	1	1319	1	ZBTB47	3	42701164	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	498	42701164	155321266	29	14980										
IFT57	55081	genome.wustl.edu	37	chr3	107932819	107932819	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atttaatgttaattctgcatCatcttctgcaacgctttctt	4	9	5	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:107932819C>T	ENST00000264538.3	-	4	791	c.544G>A	c.(544-546)Gat>Aat	p.D182N		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	182					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AATTCTGCATCATCTTCTGCA	0.328																																																	0													229	212	218					3																	107932819		2202	4297	6499	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.544G>A	3.37:g.107932819C>T	ENSP00000264538:p.Asp182Asn		Q96DA9	Missense_Mutation	SNP	pfam_Intra-flagellar_transport_57,superfamily_t-SNARE	p.D182N	ENST00000264538.3	37	c.544	CCDS2951.1	3	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823156	0.90873	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.77	5.77	0.91146	.	0.161439	0.64402	D	0.000019	T	0.59362	0.2188	L	0.38838	1.175	0.80722	D	1	B	0.33807	0.426	B	0.38755	0.281	T	0.53920	-0.8370	9	0.29301	T	0.29	.	19.9869	0.97352	0.0:1.0:0.0:0.0	.	182	Q9NWB7	IFT57_HUMAN	N	182	.	ENSP00000264538:D182N	D	-	1	0	IFT57	109415509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.500000	0.60387	2.722000	0.93159	0.655000	0.94253	GAT	IFT57	-	pfam_Intra-flagellar_transport_57		0.328	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT57	HGNC	protein_coding	OTTHUMT00000353918.1	C	NM_018010		107932819	-1	no_errors	ENST00000264538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107932819	C	T	107932819	3	4	102	1	0	0	0	0	1	0	0	0	7582	826	29	1	777	1	IFT57	3	107932819	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	65231655	107932819	90089611	30	14981										
PLXNA1	5361	genome.wustl.edu	37	chr3	126733114	126733114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agtgcggatggtgcgtggccGagcgccgctgctccctgcga	17	13	0	0	rs577744672		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:126733114G>A	ENST00000393409.2	+	11	2500	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E811K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	834					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCGTGGCCGAGCGCCGCTG	0.701													g|||	1	0.000199681	8e-04	0	5008	,	,		11528	0		0	False		,,,				2504	0																0													9	11	10					3																	126733114		2184	4262	6446	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2500G>A	3.37:g.126733114G>A	ENSP00000377061:p.Glu834Lys			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E834K	ENST00000393409.2	37	c.2500	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	g	20.1	3.932239	0.73442	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17370	2.28;2.28	3.39	3.39	0.38822	.	2.749940	0.01480	N	0.016659	T	0.37073	0.0990	M	0.89414	3.03	0.43317	D	0.995339	P	0.35192	0.489	B	0.37239	0.244	T	0.50800	-0.8785	10	0.42905	T	0.14	.	14.9389	0.70978	0.0:0.0:1.0:0.0	.	834	Q9UIW2	PLXA1_HUMAN	K	834;811	ENSP00000377061:E834K;ENSP00000251772:E811K	ENSP00000251772:E811K	E	+	1	0	PLXNA1	128215804	1.000000	0.71417	0.926000	0.36857	0.850000	0.48378	7.385000	0.79763	1.908000	0.55244	0.486000	0.48141	GAG	PLXNA1	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.701	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126733114	1	no_errors	ENST00000393409	ensembl	human	known	70_37	missense	SNP	0.996	A	A	126733114	G	A	126733114	3	1	102	1	0	0	0	0	1	0	0	0	12143	1059	37	1	2542	1	PLXNA1	3	126733114	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	18800295	126733114	71289316	31	14982										
VPS8	23355	genome.wustl.edu	37	chr3	184550510	184550510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atgagtcttttattcttgagGatcctacattgttaaacatt	6	6	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:184550510G>C	ENST00000437079.3	+	4	427	c.256G>C	c.(256-258)Gat>Cat	p.D86H	VPS8_ENST00000436792.2_Missense_Mutation_p.D86H|VPS8_ENST00000424463.2_Missense_Mutation_p.D86H|VPS8_ENST00000446204.2_Missense_Mutation_p.D86H|VPS8_ENST00000287546.4_Missense_Mutation_p.D86H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	86							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TATTCTTGAGGATCCTACATT	0.338																																																	0													125	115	118					3																	184550510		1879	4114	5993	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.256G>C	3.37:g.184550510G>C	ENSP00000397879:p.Asp86His		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D86H	ENST00000437079.3	37	c.256	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582550	0.86748	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.988	T	0.06716	-1.0811	10	0.52906	T	0.07	-13.4742	18.5904	0.91210	0.0:0.0:1.0:0.0	.	86;86;86	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	H	86	ENSP00000287546:D86H;ENSP00000397879:D86H;ENSP00000404704:D86H;ENSP00000405483:D86H;ENSP00000415161:D86H;ENSP00000389480:D86H;ENSP00000409957:D86H;ENSP00000416150:D86H	ENSP00000287546:D86H	D	+	1	0	VPS8	186033204	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.321000	0.89997	2.688000	0.91661	0.591000	0.81541	GAT	VPS8	-	NULL		0.338	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		G	NM_015303		184550510	1	no_errors	ENST00000287546	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184550510	G	C	184550510	3	2	102	1	0	0	0	0	1	0	0	0	17249	1174	41	1	266	1	VPS8	3	184550510	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	57817396	184550510	13471920	32	14983										
ETV5	2119	genome.wustl.edu	37	chr3	185774866	185774866	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccagcatccagtgcatacctCttccggttctatcagcttga	7	14	3	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:185774866C>T	ENST00000306376.5	-	11	1453	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	ETV5_ENST00000537818.1_Missense_Mutation_p.E445K|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.E403K	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	403					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GTGCATACCTCTTCCGGTTCT	0.478			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0													87	83	84					3																	185774866		2203	4300	6503	SO:0001583	missense	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1207G>A	3.37:g.185774866C>T	ENSP00000306894:p.Glu403Lys		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E445K	ENST00000306376.5	37	c.1333	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.246834	0.95305	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.23147	1.92;1.92;1.92	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.40997	-0.9533	10	0.87932	D	0	.	18.5905	0.91210	0.0:1.0:0.0:0.0	.	403;445	P41161;B7Z7D7	ETV5_HUMAN;.	K	403;403;445	ENSP00000306894:E403K;ENSP00000413755:E403K;ENSP00000441737:E445K	ENSP00000306894:E403K	E	-	1	0	ETV5	187257560	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	GAG	ETV5	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.478	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	C	NM_004454		185774866	-1	no_errors	ENST00000537818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	185774866	C	T	185774866	3	4	102	1	0	0	0	0	1	0	0	0	5294	922	32	1	337	1	ETV5	3	185774866	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	1224356	185774866	12247564	33	14984										
TNK2	10188	genome.wustl.edu	37	chr3	195594534	195594534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctccaggtaggatggtcgctCgggcagcaagtaatagtggg	16	8	0	0	rs143850445		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr3:195594534C>T	ENST00000333602.6	-	12	3207	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	TNK2_ENST00000428187.1_Missense_Mutation_p.E896K|TNK2_ENST00000381916.2_Missense_Mutation_p.E942K|TNK2_ENST00000392400.1_Missense_Mutation_p.E864K	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	864	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GATGGTCGCTCGGGCAGCAAG	0.682																																																	0								C	LYS/GLU,LYS/GLU	1,4403		0,1,2201	31	30	30		2824,2590	5.3	0.9	3	dbSNP_134	30	0,8582		0,0,4291	no	missense,missense	TNK2	NM_001010938.1,NM_005781.4	56,56	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	942/1087,864/1039	195594534	1,12985	2202	4291	6493	SO:0001583	missense	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2590G>A	3.37:g.195594534C>T	ENSP00000329425:p.Glu864Lys		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E942K	ENST00000333602.6	37	c.2824	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127384	0.56721	2.27E-4	0.0	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.78816	-1.17;-1.21;2.62;-1.2;-1.17	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.981;0.994;0.986;0.991	T	0.80754	-0.1241	10	0.19590	T	0.45	.	17.5128	0.87765	0.0:1.0:0.0:0.0	.	864;942;896;389	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	K	864;942;431;896;864	ENSP00000329425:E864K;ENSP00000371341:E942K;ENSP00000398614:E431K;ENSP00000392546:E896K;ENSP00000376201:E864K	ENSP00000329425:E864K	E	-	1	0	TNK2	197078931	1.000000	0.71417	0.948000	0.38648	0.005000	0.04900	7.358000	0.79466	2.469000	0.83416	0.561000	0.74099	GAG	TNK2	-	NULL		0.682	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	C	NM_005781		195594534	-1	no_errors	ENST00000381916	ensembl	human	known	70_37	missense	SNP	1.000	T	T	195594534	C	T	195594534	3	4	102	1	0	0	0	0	1	0	0	0	16348	893	31	1	542	1	TNK2	3	195594534	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	9819668	195594534	2427896	34	14985										
AFP	174	genome.wustl.edu	37	chr4	74319612	74319612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aggaagtctgctttgctgaaGaggtacatgcagctcatttc	11	8	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr4:74319612G>C	ENST00000395792.2	+	13	1883	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	AFP_ENST00000506820.1_3'UTR|AFP_ENST00000226359.2_Missense_Mutation_p.E595Q	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	595	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTGCTGAAGAGGTACATGC	0.388									Alpha-Fetoprotein, Hereditary Persistence of																																								0													79	74	76					4																	74319612		2203	4300	6503	SO:0001583	missense	174	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1783G>C	4.37:g.74319612G>C	ENSP00000379138:p.Glu595Gln		B2RBU3	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin	p.E595Q	ENST00000395792.2	37	c.1783	CCDS3556.1	4	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420044	0.42918	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.60548	0.18;0.18	4.8	4.8	0.61643	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (2);	0.062832	0.64402	D	0.000007	T	0.77994	0.4214	M	0.87180	2.865	0.43942	D	0.996603	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.81870	-0.0734	10	0.87932	D	0	.	13.2126	0.59834	0.0:0.0:1.0:0.0	.	437;595	B4DMX4;P02771	.;FETA_HUMAN	Q	595	ENSP00000379138:E595Q;ENSP00000226359:E595Q	ENSP00000226359:E595Q	E	+	1	0	AFP	74538476	1.000000	0.71417	0.956000	0.39512	0.096000	0.18686	5.250000	0.65432	2.485000	0.83878	0.561000	0.74099	GAG	AFP	-	superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein		0.388	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	HGNC	protein_coding	OTTHUMT00000252284.3	G			74319612	1	no_errors	ENST00000395792	ensembl	human	known	70_37	missense	SNP	0.973	C	C	74319612	G	C	74319612	3	2	102	1	0	0	0	0	1	0	0	0	363	943	33	1	1833	1	AFP	4	74319612	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		74319612	116834664	35	14986										
ENPEP	2028	genome.wustl.edu	37	chr4	111452388	111452388	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tcccagttaaatggactgaaGataatataacaagcagtgtg	9	6	0	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr4:111452388G>C	ENST00000265162.5	+	11	2104	c.1762G>C	c.(1762-1764)Gat>Cat	p.D588H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	588					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ATGGACTGAAGATAATATAAC	0.214																																																	0													29	30	30					4																	111452388		2144	4238	6382	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1762G>C	4.37:g.111452388G>C	ENSP00000265162:p.Asp588His		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D588H	ENST00000265162.5	37	c.1762	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391661	0.42410	.	.	ENSG00000138792	ENST00000265162	T	0.01438	4.89	5.32	3.38	0.38709	.	0.779040	0.12815	N	0.436841	T	0.02610	0.0079	M	0.82630	2.6	0.27978	N	0.936129	P	0.46706	0.883	B	0.39258	0.295	T	0.38394	-0.9663	10	0.59425	D	0.04	.	4.4594	0.11659	0.3813:0.0:0.6187:0.0	.	588	Q07075	AMPE_HUMAN	H	588	ENSP00000265162:D588H	ENSP00000265162:D588H	D	+	1	0	ENPEP	111671837	0.970000	0.33590	0.938000	0.37757	0.643000	0.38383	2.058000	0.41374	1.177000	0.42855	0.563000	0.77884	GAT	ENPEP	-	NULL		0.214	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	G			111452388	1	no_errors	ENST00000265162	ensembl	human	known	70_37	missense	SNP	0.838	C	C	111452388	G	C	111452388	3	2	102	1	0	0	0	0	1	0	0	0	5140	942	33	1	1804	1	ENPEP	4	111452388	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	37132776	111452388	79701888	36	14987										
FBXW7	55294	genome.wustl.edu	37	chr4	153245393	153245393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccagattttaactgtagaatCtgcattcccagagacaagaa	7	9	1	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr4:153245393C>G	ENST00000281708.4	-	11	3027	c.1798G>C	c.(1798-1800)Gat>Cat	p.D600H	FBXW7_ENST00000296555.5_Missense_Mutation_p.D482H|FBXW7_ENST00000263981.5_Missense_Mutation_p.D520H|FBXW7_ENST00000603841.1_Missense_Mutation_p.D600H|FBXW7_ENST00000603548.1_Missense_Mutation_p.D600H|FBXW7_ENST00000393956.3_Missense_Mutation_p.D424H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	600					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D600Y(2)|p.D520Y(1)|p.D361Y(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTAGAATCTGCATTCCCA	0.388			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)											125	116	119					4																	153245393		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1798G>C	4.37:g.153245393C>G	ENSP00000281708:p.Asp600His		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D600H	ENST00000281708.4	37	c.1798	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747294	0.89663	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	H	0.98133	4.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98335	1.0535	10	0.87932	D	0	-19.794	19.2767	0.94034	0.0:1.0:0.0:0.0	.	424;600;482;520	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	600;482;520;424	ENSP00000281708:D600H;ENSP00000296555:D482H;ENSP00000263981:D520H;ENSP00000377528:D424H	ENSP00000263981:D520H	D	-	1	0	FBXW7	153464843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	GAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153245393	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153245393	C	G	153245393	3	3	102	1	0	0	0	0	1	0	0	0	5787	913	32	1	333	1	FBXW7	4	153245393	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	41793005	153245393	37908883	37	14988										
FCHO2	115548	genome.wustl.edu	37	chr5	72332992	72332992	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ataaaaccaaggaaaagaaaGacctttgctttgccaggaat	8	7	0	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr5:72332992G>A	ENST00000430046.2	+	10	980	c.864G>A	c.(862-864)aaG>aaA	p.K288K	FCHO2_ENST00000287761.6_Silent_p.K288K|FCHO2_ENST00000341845.6_Silent_p.K288K|FCHO2_ENST00000512348.1_Silent_p.K255K	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	288					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGAAAAGAAAGACCTTTGCTT	0.259																																																	0													38	39	39					5																	72332992		1781	4045	5826	SO:0001819	synonymous_variant	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.864G>A	5.37:g.72332992G>A			A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH	p.K288	ENST00000430046.2	37	c.864	CCDS47230.1	5																																																																																			FCHO2	-	NULL		0.259	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	G	XM_291142		72332992	1	no_errors	ENST00000341845	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72332992	G	A	72332992	2	1	102	1	0	0	0	0	0	0	0	1	5806	933	33	1		1	FCHO2	5	72332992	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		72332992	108582268	38	14989										
HOMER1	9456	genome.wustl.edu	37	chr5	78742913	78742913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	taagttccatcttctcttgtGatttttcctttgctagtcga	6	9	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr5:78742913G>A	ENST00000334082.6	-	4	1792	c.350C>T	c.(349-351)tCa>tTa	p.S117L	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.S117L|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	117					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTTCTCTTGTGATTTTTCCTT	0.338																																																	0													169	164	165					5																	78742913		1833	4083	5916	SO:0001583	missense	9456			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.350C>T	5.37:g.78742913G>A	ENSP00000334382:p.Ser117Leu		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.S117L	ENST00000334082.6	37	c.350	CCDS43335.1	5	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592771	0.66219	.	.	ENSG00000152413	ENST00000334082;ENST00000508576	T;T	0.48522	2.09;0.81	5.82	5.82	0.92795	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	L	0.55990	1.75	0.80722	D	1	P;P	0.39131	0.661;0.54	B;B	0.33339	0.162;0.133	T	0.42396	-0.9454	10	0.40728	T	0.16	-6.7615	20.091	0.97817	0.0:0.0:1.0:0.0	.	117;117	Q86YM7-3;Q86YM7	.;HOME1_HUMAN	L	117	ENSP00000334382:S117L;ENSP00000426651:S117L	ENSP00000334382:S117L	S	-	2	0	HOMER1	78778669	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.944000	0.87722	2.739000	0.93911	0.655000	0.94253	TCA	HOMER1	-	NULL		0.338	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOMER1	HGNC	protein_coding	OTTHUMT00000258856.1	G	NM_004272		78742913	-1	no_errors	ENST00000334082	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78742913	G	A	78742913	3	1	102	1	0	0	0	0	1	0	0	0	7298	1294	45	1	738	1	HOMER1	5	78742913	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	6409921	78742913	102172347	39	14990										
GPR98	84059	genome.wustl.edu	37	chr5	90087011	90087011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccatccaaattaacataaccCggcttgctggaacatttgga	7	11	0	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr5:90087011C>T	ENST00000405460.2	+	70	14461	c.14365C>T	c.(14365-14367)Cgg>Tgg	p.R4789W	GPR98_ENST00000425867.2_Missense_Mutation_p.R450W	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4789			R -> W (in USH2C). {ECO:0000269|PubMed:22147658}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACATAACCCGGCTTGCTGG	0.448																																																	0													77	71	73					5																	90087011		1921	4130	6051	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14365C>T	5.37:g.90087011C>T	ENSP00000384582:p.Arg4789Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4789W	ENST00000405460.2	37	c.14365	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065066	0.76187	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.56275	0.47;0.47	5.9	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.83118	2.625	0.42862	D	0.994116	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.928;1.0	T	0.76729	-0.2852	10	0.87932	D	0	.	13.92	0.63926	0.5274:0.4726:0.0:0.0	.	450;4789;450	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	W	4789;4789;450	ENSP00000384582:R4789W;ENSP00000392618:R450W	ENSP00000296619:R4789W	R	+	1	2	GPR98	90122767	0.972000	0.33761	0.999000	0.59377	0.991000	0.79684	0.846000	0.27682	0.340000	0.23745	0.655000	0.94253	CGG	GPR98	-	NULL		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90087011	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.999	T	T	90087011	C	T	90087011	3	4	102	1	0	0	0	0	1	0	0	0	6741	643	23	2	14643	2	GPR98	5	90087011	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	11344098	90087011	90828249	40	14991										
ARRDC3	57561	genome.wustl.edu	37	chr5	90670952	90670952	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gcctttggcaccaccattcgGgaagagcagttctcaatctc	9	13	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr5:90670952G>T	ENST00000265138.3	-	5	923	c.657C>A	c.(655-657)tcC>tcA	p.S219S	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	219					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CCACCATTCGGGAAGAGCAGT	0.408																																																	0													68	61	64					5																	90670952		2203	4300	6503	SO:0001819	synonymous_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.657C>A	5.37:g.90670952G>T			A8K6T8|Q9P2H1	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.S219	ENST00000265138.3	37	c.657	CCDS34202.1	5																																																																																			ARRDC3	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.408	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC3	HGNC	protein_coding	OTTHUMT00000369763.2	G	NM_020801		90670952	-1	no_errors	ENST00000265138	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90670952	G	T	90670952	2	4	102	1	0	0	0	0	0	0	0	1	985	1219	43	4		4	ARRDC3	5	90670952	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	583941	90670952	90244308	41	14992										
PCSK1	5122	genome.wustl.edu	37	chr5	95761604	95761604	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agctgaacgtttacttctttCtttttcatactgttgttcag	6	8	4	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr5:95761604C>G	ENST00000311106.3	-	3	553	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	PCSK1_ENST00000508626.1_Missense_Mutation_p.E59Q|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	106					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E106Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTACTTCTTTCTTTTTCATAC	0.373																																																	1	Substitution - Missense(1)	ovary(1)											174	156	162					5																	95761604		2203	4300	6503	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.316G>C	5.37:g.95761604C>G	ENSP00000308024:p.Glu106Gln		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E106Q	ENST00000311106.3	37	c.316	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	1.190	-0.635451	0.03584	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.66815	-0.07;-0.23;2.31	5.63	3.74	0.42951	.	0.301186	0.40818	N	0.001017	T	0.40839	0.1133	N	0.05487	-0.04	0.27306	N	0.957449	B	0.16166	0.016	B	0.09377	0.004	T	0.18681	-1.0329	10	0.33141	T	0.24	-21.7589	6.4665	0.21985	0.0:0.6577:0.1483:0.194	.	106	P29120	NEC1_HUMAN	Q	106;59;106	ENSP00000308024:E106Q;ENSP00000421600:E59Q;ENSP00000427294:E106Q	ENSP00000308024:E106Q	E	-	1	0	PCSK1	95787360	0.998000	0.40836	0.999000	0.59377	0.174000	0.22865	0.580000	0.23803	1.519000	0.48950	-0.136000	0.14681	GAA	PCSK1	-	NULL		0.373	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	C	NM_000439		95761604	-1	no_errors	ENST00000311106	ensembl	human	known	70_37	missense	SNP	0.997	G	G	95761604	C	G	95761604	3	3	102	1	0	0	0	0	1	0	0	0	11624	922	32	1	1993	1	PCSK1	5	95761604	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	5090652	95761604	85153656	42	14993										
MOCS1	4337	genome.wustl.edu	37	chr6	39883833	39883833	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tttcctgcggacaatgaactCaaacttggcaggcaccaggg	11	11	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr6:39883833C>G	ENST00000340692.5	-	4	565	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	MOCS1_ENST00000373175.4_Missense_Mutation_p.E159Q|MOCS1_ENST00000373186.4_Missense_Mutation_p.E188Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E101Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E159Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E188Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E188Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E188Q			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	188	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.E188Q(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACAATGAACTCAAACTTGGCA	0.607																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												2	Substitution - Missense(2)	pancreas(2)											41	32	35					6																	39883833		2203	4300	6503	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.562G>C	6.37:g.39883833C>G	ENSP00000344794:p.Glu188Gln		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.E188Q	ENST00000340692.5	37	c.562		6	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778289	0.49786	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.67	5.67	0.87782	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	L	0.31578	0.945	0.80722	D	1	D;P;P;P;D	0.54601	0.959;0.917;0.943;0.929;0.967	P;P;P;P;P	0.59487	0.835;0.721;0.823;0.771;0.858	D	0.89631	0.3855	9	.	.	.	-35.6192	19.3581	0.94422	0.0:1.0:0.0:0.0	.	188;188;188;188;188	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	Q	188;188;159;188;101;188;188;159	ENSP00000362282:E188Q;ENSP00000309843:E188Q;ENSP00000362270:E159Q;ENSP00000362284:E188Q;ENSP00000362291:E101Q;ENSP00000344794:E188Q;ENSP00000416478:E188Q;ENSP00000410809:E159Q	.	E	-	1	0	MOCS1	39991811	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.783000	0.85696	2.675000	0.91044	0.650000	0.86243	GAG	MOCS1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA		0.607	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	C	NM_005943		39883833	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39883833	C	G	39883833	3	3	102	1	0	0	0	0	1	0	0	0	9713	835	29	1	623	1	MOCS1	6	39883833	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		39883833	131231234	43	14994										
POLR1C	9533	genome.wustl.edu	37	chr6	43489001	43489001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	actgatggggaagtgccggcGcttcttggatgaactagatg	15	7	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr6:43489001G>A	ENST00000372389.3	+	9	1092	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	POLR1C_ENST00000304004.3_Intron|POLR1C_ENST00000372344.2_Missense_Mutation_p.R285H|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	335					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AAGTGCCGGCGCTTCTTGGAT	0.542																																																	0													103	102	102					6																	43489001		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.1004G>A	6.37:g.43489001G>A	ENSP00000361465:p.Arg335His		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.R335H	ENST00000372389.3	37	c.1004	CCDS4901.1	6	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854779	0.51376	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344	D;D	0.82984	-1.67;-1.67	5.18	5.18	0.71444	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.106321	0.64402	D	0.000008	T	0.75752	0.3892	M	0.76938	2.355	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.75792	-0.3193	10	0.45353	T	0.12	-7.5969	13.0465	0.58928	0.0775:0.0:0.9225:0.0	.	335	O15160	RPAC1_HUMAN	H	335;199;285	ENSP00000361465:R335H;ENSP00000361419:R285H	ENSP00000361419:R285H	R	+	2	0	POLR1C	43596979	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	3.889000	0.56212	2.408000	0.81797	0.650000	0.86243	CGC	POLR1C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3		0.542	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	G	NM_004875		43489001	1	no_errors	ENST00000372389	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43489001	G	A	43489001	3	1	102	1	0	0	0	0	1	0	0	0	12235	1087	38	2	1038	2	POLR1C	6	43489001	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	3605168	43489001	127626066	44	14995										
MAP3K5	4217	genome.wustl.edu	37	chr6	137041602	137041602	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aggtaccttcagtgactgcaGagagtccgagttagtatcac	11	9	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr6:137041602G>C	ENST00000359015.4	-	2	934	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	192					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.L192V(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGACTGCAGAGAGTCCGAG	0.443																																																	1	Substitution - Missense(1)	urinary_tract(1)											207	176	186					6																	137041602		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.574C>G	6.37:g.137041602G>C	ENSP00000351908:p.Leu192Val		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L192V	ENST00000359015.4	37	c.574	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355951	0.61293	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.10099	2.91	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.49350	1.555	0.80722	D	1	P;D;D	0.89917	0.877;1.0;0.999	P;D;D	0.87578	0.627;0.998;0.994	T	0.01039	-1.1472	10	0.46703	T	0.11	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	272;37;192	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	V	192;272	ENSP00000351908:L192V	ENSP00000351908:L192V	L	-	1	2	MAP3K5	137083295	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.761000	0.55242	1.620000	0.50308	0.655000	0.94253	CTG	MAP3K5	-	NULL		0.443	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			137041602	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137041602	G	C	137041602	3	2	102	1	0	0	0	0	1	0	0	0	9276	933	33	1	3666	1	MAP3K5	6	137041602	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	93552601	137041602	34073465	45	14996										
TAGAP	117289	genome.wustl.edu	37	chr6	159457435	159457435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctttcctttctgacacccctCgggacgtggtccctggtaaa	9	14	1	1	rs200549687		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr6:159457435C>T	ENST00000367066.3	-	10	1951	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P362P	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	540					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGACACCCCTCGGGACGTGGT	0.562																																																	0													51	56	54					6																	159457435		2203	4300	6503	SO:0001819	synonymous_variant	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1620G>A	6.37:g.159457435C>T			Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P540	ENST00000367066.3	37	c.1620	CCDS5261.1	6																																																																																			TAGAP	-	NULL		0.562	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	C	NM_054114		159457435	-1	no_errors	ENST00000367066	ensembl	human	known	70_37	silent	SNP	0.017	T	T	159457435	C	T	159457435	2	4	102	1	0	0	0	0	0	0	0	1	15567	871	31	1		1	TAGAP	6	159457435	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	22415833	159457435	11657632	46	14997										
MAS1	4142	genome.wustl.edu	37	chr6	160328132	160328132	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tctccccagtggggtttgttGagaatgggattctcctctgg	13	9	3	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr6:160328132G>C	ENST00000252660.4	+	1	159	c.145G>C	c.(145-147)Gag>Cag	p.E49Q		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	49					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GGGGTTTGTTGAGAATGGGAT	0.517																																																	0													212	205	207					6																	160328132		2203	4300	6503	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.145G>C	6.37:g.160328132G>C	ENSP00000252660:p.Glu49Gln		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn	p.E49Q	ENST00000252660.4	37	c.145	CCDS5272.1	6	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129816	0.37630	.	.	ENSG00000130368	ENST00000252660	T	0.09538	2.97	5.72	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.222885	0.30809	N	0.008827	T	0.11665	0.0284	N	0.22421	0.69	0.39355	D	0.965821	D	0.64830	0.994	D	0.65323	0.934	T	0.08493	-1.0719	10	0.87932	D	0	.	15.7284	0.77780	0.0:0.1369:0.8631:0.0	.	49	P04201	MAS_HUMAN	Q	49	ENSP00000252660:E49Q	ENSP00000252660:E49Q	E	+	1	0	MAS1	160248122	0.994000	0.37717	0.392000	0.26245	0.076000	0.17211	4.195000	0.58400	1.380000	0.46344	0.655000	0.94253	GAG	MAS1	-	pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.517	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	G	NM_002377		160328132	1	no_errors	ENST00000252660	ensembl	human	known	70_37	missense	SNP	0.881	C	C	160328132	G	C	160328132	3	2	102	1	0	0	0	0	1	0	0	0	9343	1291	45	1	147	1	MAS1	6	160328132	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	870697	160328132	10786935	47	14998										
UFSP1	402682	genome.wustl.edu	37	chr7	100486556	100486556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aaaggctgcactcacctcttGccagcccacccacccagcag	7	19	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr7:100486556G>T	ENST00000388761.2	-	1	783	c.337C>A	c.(337-339)Caa>Aaa	p.Q113K		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	113						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCTCTTGCCAGCCCACC	0.582																																																	0													132	121	125					7																	100486556		2203	4300	6503	SO:0001583	missense	402682			AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.337C>A	7.37:g.100486556G>T	ENSP00000373413:p.Gln113Lys		A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.Q113K	ENST00000388761.2	37	c.337	CCDS34710.1	7	.	.	.	.	.	.	.	.	.	.	G	3.191	-0.165782	0.06461	.	.	ENSG00000176125	ENST00000388761	T	0.25250	1.81	5.19	-0.381	0.12485	.	0.568480	0.15431	N	0.262729	T	0.07324	0.0185	N	0.02391	-0.57	0.23524	N	0.997491	B	0.02656	0.0	B	0.04013	0.001	T	0.39014	-0.9634	10	0.02654	T	1	-20.1137	8.4016	0.32590	0.0747:0.0:0.3867:0.5386	.	113	Q6NVU6	UFSP1_HUMAN	K	113	ENSP00000373413:Q113K	ENSP00000373413:Q113K	Q	-	1	0	UFSP1	100324492	0.833000	0.29383	0.033000	0.17914	0.171000	0.22731	1.099000	0.31013	-0.293000	0.08986	-0.237000	0.12165	CAA	UFSP1	-	pfam_Peptidase_C78_UfSP1/2		0.582	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP1	HGNC	protein_coding	OTTHUMT00000356751.1	G	NM_001015072		100486556	-1	no_errors	ENST00000388761	ensembl	human	known	70_37	missense	SNP	0.138	T	T	100486556	G	T	100486556	3	4	102	1	0	0	0	0	1	0	0	0	16968	1328	46	4	95	4	UFSP1	7	100486556	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		100486556	58652107	48	14999										
RELN	5649	genome.wustl.edu	37	chr7	103138565	103138565	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tcttgtgtaaccgcttgtctCacagtggatcccccaaaata	7	12	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr7:103138565C>G	ENST00000428762.1	-	54	8961	c.8802G>C	c.(8800-8802)gtG>gtC	p.V2934V	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.V2934V|RELN_ENST00000343529.5_Silent_p.V2934V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2934					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGCTTGTCTCACAGTGGATC	0.423																																					NSCLC(146;835 1944 15585 22231 52158)												0													124	116	119					7																	103138565		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8802G>C	7.37:g.103138565C>G			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.V2934	ENST00000428762.1	37	c.8802	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103138565	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	0.999	G	G	103138565	C	G	103138565	2	3	102	1	0	0	0	0	0	0	0	1	13250	813	29	1		1	RELN	7	103138565	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	2652009	103138565	56000098	49	15000										
RINT1	60561	genome.wustl.edu	37	chr7	105177056	105177056	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttggaagtaaacaagtcagtGaaggtacagataatggtgat	12	3	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr7:105177056G>T	ENST00000257700.2	+	3	364	c.133G>T	c.(133-135)Gaa>Taa	p.E45*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	45					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAGTCAGTGAAGGTACAGA	0.328																																																	0													194	196	195					7																	105177056		2203	4300	6503	SO:0001587	stop_gained	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.133G>T	7.37:g.105177056G>T	ENSP00000257700:p.Glu45*		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	pfam_RINT1_TIP1	p.E45*	ENST00000257700.2	37	c.133	CCDS34726.1	7	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170218	0.78452	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.2	-1.63	0.08345	.	0.786235	0.12175	N	0.492672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.773	6.7318	0.23387	0.374:0.3112:0.3149:0.0	.	.	.	.	X	45	.	ENSP00000257700:E45X	E	+	1	0	RINT1	104964292	0.166000	0.22962	0.005000	0.12908	0.964000	0.63967	0.417000	0.21214	-0.040000	0.13580	0.491000	0.48974	GAA	RINT1	-	NULL		0.328	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	G	NM_021930		105177056	1	no_errors	ENST00000257700	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	105177056	G	T	105177056	4	4	102	1	0	0	0	0	0	1	0	0	13406	1291	45	3	143	3	RINT1	7	105177056	Nonsense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	2038491	105177056	53961607	50	15001										
PDIA4	9601	genome.wustl.edu	37	chr7	148702242	148702242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cacgggctcaccttttttgaAagcagtgacaaactcgcgga	10	11	1	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr7:148702242A>G	ENST00000286091.4	-	9	1745	c.1513T>C	c.(1513-1515)Ttc>Ctc	p.F505L		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	505	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCTTTTTTGAAAGCAGTGACA	0.607																																																	0													121	120	120					7																	148702242		2203	4300	6503	SO:0001583	missense	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1513T>C	7.37:g.148702242A>G	ENSP00000286091:p.Phe505Leu		A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.F505L	ENST00000286091.4	37	c.1513	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920422	0.52653	.	.	ENSG00000155660	ENST00000286091	T	0.20598	2.06	5.57	5.57	0.84162	Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	N	0.25825	0.765	0.80722	D	1	P	0.38167	0.621	B	0.29942	0.109	T	0.05666	-1.0871	10	0.32370	T	0.25	.	15.7239	0.77736	1.0:0.0:0.0:0.0	.	505	P13667	PDIA4_HUMAN	L	505	ENSP00000286091:F505L	ENSP00000286091:F505L	F	-	1	0	PDIA4	148333175	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.003000	0.93577	2.116000	0.64780	0.533000	0.62120	TTC	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.607	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	A	NM_004911		148702242	-1	no_errors	ENST00000286091	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148702242	A	G	148702242	3	3	102	1	0	0	0	0	1	0	0	0	11694	14	1	5	432	5	PDIA4	7	148702242	Missense_Mutation	SNP	A	TCGA-EK-A2R7-01A-11D-A18J-09	43525186	148702242	10436421	51	15002										
SSPO	23145	genome.wustl.edu	37	chr7	149481978	149481978	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctgcccttcacaggggcattCtgccccagggagcttgtcta	11	14	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr7:149481978C>T	ENST00000378016.2	+	0	2766							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGGCATTCTGCCCCAGGG	0.612																																																	0													58	62	61					7																	149481978		2019	4180	6199			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481978C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.612	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149481978	1	no_errors	ENST00000262089	ensembl	human	known	70_37	rna	SNP	0.997	T	T	149481978	C	T	149481978	1	4	102	0	1	0	0	0	0	0	0	0	15219	913	32	1		1	SSPO	7	149481978	RNA	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	779736	149481978	9656685	52	15003										
PINX1	54984	genome.wustl.edu	37	chr8	10623360	10623360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	catccgcttggcaaagtactCctggatggtgaaggcgctgg	14	10	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr8:10623360C>T	ENST00000314787.3	-	7	657	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SOX7_ENST00000554914.1_Intron|PINX1_ENST00000519088.1_Missense_Mutation_p.G154E|CTD-2135J3.3_ENST00000506149.2_RNA|PINX1_ENST00000426190.2_Missense_Mutation_p.G152E|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	180					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GCAAAGTACTCCTGGATGGTG	0.547																																																	0													155	160	158					8																	10623360		2016	4188	6204	SO:0001583	missense	54984			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"G patch domain containing"	30046	protein-coding gene	gene with protein product	"PIN2 interacting protein 1", "liver-related putative tumor suppressor"	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.538G>A	8.37:g.10623360C>T	ENSP00000318966:p.Glu180Lys		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E180K	ENST00000314787.3	37	c.538	CCDS47801.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.074863|5.074863	0.94000|0.94000	.|.	.|.	ENSG00000254093|ENSG00000254093	ENST00000314787;ENST00000524114|ENST00000426190;ENST00000519088	T|.	0.11277|.	2.79|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69052|0.69052	0.3068|0.3068	M|M	0.80183|0.80183	2.485|2.485	0.31269|0.31269	N|N	0.692027|0.692027	D|D	0.71674|0.64830	0.998|0.994	P|P	0.62089|0.60886	0.898|0.88	T|T	0.68224|0.68224	-0.5465|-0.5465	10|8	0.72032|0.14656	D|T	0.01|0.56	.|.	15.5632|15.5632	0.76266|0.76266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	180|154	Q96BK5|Q96BK5-2	PINX1_HUMAN|.	K|E	180;190|152;154	ENSP00000318966:E180K|.	ENSP00000318966:E180K|ENSP00000411396:G152E	E|G	-|-	1|2	0|0	PINX1|PINX1	10660770|10660770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	4.758000|4.758000	0.62220|0.62220	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|GGA	PINX1	-	NULL		0.547	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINX1	HGNC	protein_coding	OTTHUMT00000375683.1	C	NM_017884		10623360	-1	no_errors	ENST00000314787	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10623360	C	T	10623360	3	4	102	1	0	0	0	0	1	0	0	0	11957	864	30	1	452	1	PINX1	8	10623360	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		10623360	135740662	53	15004										
EPB49	2039	genome.wustl.edu	37	chr8	21929890	21929890	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggggagcagaggaagaggagGaggaggaagatgacgactct	20	4	1	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr8:21929890G>T	ENST00000523266.1	+	9	1120	c.658G>T	c.(658-660)Gag>Tag	p.E220*	DMTN_ENST00000358242.3_Nonsense_Mutation_p.E220*|DMTN_ENST00000432128.1_Nonsense_Mutation_p.E220*|DMTN_ENST00000523782.2_Nonsense_Mutation_p.E195*|DMTN_ENST00000265800.5_Nonsense_Mutation_p.E220*|DMTN_ENST00000519907.1_Nonsense_Mutation_p.E220*|DMTN_ENST00000517600.1_Nonsense_Mutation_p.E180*|DMTN_ENST00000443491.2_Nonsense_Mutation_p.E195*|DMTN_ENST00000415253.1_Nonsense_Mutation_p.E220*|DMTN_ENST00000381470.3_Nonsense_Mutation_p.E220*	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	220	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GGAAGAGGAGGAGGAGGAAGA	0.587																																																	0													109	82	91					8																	21929890		2203	4299	6502	SO:0001587	stop_gained	2039			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.658G>T	8.37:g.21929890G>T	ENSP00000427866:p.Glu220*		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Nonsense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.E220*	ENST00000523266.1	37	c.658	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.773197	0.98480	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	.	.	.	5.15	5.15	0.70609	.	0.454889	0.20622	N	0.088773	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.4836	0.67599	0.0:0.0:1.0:0.0	.	.	.	.	X	220;220;195;180;180;220;159;220;220;220;220	.	ENSP00000265800:E220X	E	+	1	0	EPB49	21985836	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.486000	0.45259	2.558000	0.86282	0.563000	0.77884	GAG	EPB49	-	NULL		0.587	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	EPB49	HGNC	protein_coding	OTTHUMT00000375178.1	G	NM_001978		21929890	1	no_errors	ENST00000265800	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	21929890	G	T	21929890	4	4	102	1	0	0	0	0	0	1	0	0	5171	1175	41	3	688	3	EPB49	8	21929890	Nonsense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	11306530	21929890	124434132	54	15005										
EPB49	2039	genome.wustl.edu	37	chr8	21929950	21929950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tcagggagcgtcagagagagGaactcagtaaggtagcatct	14	7	4	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr8:21929950G>C	ENST00000523266.1	+	9	1180	c.718G>C	c.(718-720)Gaa>Caa	p.E240Q	DMTN_ENST00000358242.3_Missense_Mutation_p.E240Q|DMTN_ENST00000432128.1_Missense_Mutation_p.E240Q|DMTN_ENST00000523782.2_Missense_Mutation_p.E215Q|DMTN_ENST00000265800.5_Missense_Mutation_p.E240Q|DMTN_ENST00000519907.1_Missense_Mutation_p.E240Q|DMTN_ENST00000517600.1_Missense_Mutation_p.E200Q|DMTN_ENST00000443491.2_Missense_Mutation_p.E215Q|DMTN_ENST00000415253.1_Missense_Mutation_p.E240Q|DMTN_ENST00000381470.3_Missense_Mutation_p.E240Q	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	240	Interaction with RASGRF2.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TCAGAGAGAGGAACTCAGTAA	0.592																																																	0													119	90	100					8																	21929950		2201	4300	6501	SO:0001583	missense	2039			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.718G>C	8.37:g.21929950G>C	ENSP00000427866:p.Glu240Gln		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.E240Q	ENST00000523266.1	37	c.718	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286420	0.23478	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.15	5.15	0.70609	.	0.191508	0.42964	D	0.000622	T	0.35038	0.0918	N	0.20685	0.6	0.52099	D	0.999949	D;P;P;P;D;P	0.63880	0.993;0.919;0.919;0.919;0.993;0.884	D;P;B;P;P;P	0.70227	0.968;0.477;0.401;0.477;0.761;0.586	T	0.03566	-1.1024	10	0.07990	T	0.79	.	14.4836	0.67599	0.0:0.0:1.0:0.0	.	179;200;240;215;215;240	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	Q	240;240;215;200;200;240;179;240;240;240;240	ENSP00000370879:E240Q;ENSP00000416111:E240Q;ENSP00000397904:E215Q;ENSP00000430618:E200Q;ENSP00000265800:E240Q;ENSP00000350977:E240Q;ENSP00000401291:E240Q;ENSP00000427866:E240Q;ENSP00000429377:E240Q	ENSP00000265800:E240Q	E	+	1	0	EPB49	21985896	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.768000	0.74980	2.558000	0.86282	0.563000	0.77884	GAA	EPB49	-	NULL		0.592	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	EPB49	HGNC	protein_coding	OTTHUMT00000375178.1	G	NM_001978		21929950	1	no_errors	ENST00000265800	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21929950	G	C	21929950	3	2	102	1	0	0	0	0	1	0	0	0	5171	1175	41	1	748	1	EPB49	8	21929950	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	60	21929950	124434072	55	15006										
DDHD2	23259	genome.wustl.edu	37	chr8	38090703	38090703	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tcctttcaactctgaggattCacagcagctggaagaggcat	10	10	3	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr8:38090703C>T	ENST00000397166.2	+	2	716	c.191C>T	c.(190-192)tCa>tTa	p.S64L	DDHD2_ENST00000520272.2_Missense_Mutation_p.S64L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	64	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCTGAGGATTCACAGCAGCTG	0.393																																																	0													77	75	76					8																	38090703		2203	4300	6503	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.191C>T	8.37:g.38090703C>T	ENSP00000380352:p.Ser64Leu		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.S64L	ENST00000397166.2	37	c.191	CCDS34883.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.370231	0.95900	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000533100;ENST00000528358;ENST00000532222;ENST00000520272	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.86	5.86	0.93980	WWE domain (2);	0.000000	0.64402	D	0.000001	T	0.69949	0.3168	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76132	-0.3071	10	0.87932	D	0	-15.863	18.741	0.91773	0.0:1.0:0.0:0.0	.	64;64	O94830;E9PKE6	DDHD2_HUMAN;.	L	64	ENSP00000432433:S64L;ENSP00000380352:S64L;ENSP00000432678:S64L;ENSP00000433118:S64L;ENSP00000433578:S64L;ENSP00000429932:S64L	ENSP00000380352:S64L	S	+	2	0	DDHD2	38209860	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.547000	0.73892	2.778000	0.95560	0.655000	0.94253	TCA	DDHD2	-	pfam_WWE-dom,pfscan_WWE-dom		0.393	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	C	XM_291291		38090703	1	no_errors	ENST00000397166	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38090703	C	T	38090703	3	4	102	1	0	0	0	0	1	0	0	0	4332	838	29	1	193	1	DDHD2	8	38090703	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	16160753	38090703	108273319	56	15007										
PXDNL	137902	genome.wustl.edu	37	chr8	52721742	52721742	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggaatttatgtgaacttacaGaactgtggtctgctgtggta	12	5	1	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr8:52721742G>T	ENST00000356297.4	-	1	263	c.163C>A	c.(163-165)Cta>Ata	p.L55I	PXDNL_ENST00000543296.1_Splice_Site_p.L55I|RP11-11C20.3_ENST00000605991.1_lincRNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	55					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAACTTACAGAACTGTGGTC	0.502																																																	0													142	137	139					8																	52721742		2006	4193	6199	SO:0001630	splice_region_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.164+1C>A	8.37:g.52721742G>T			B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.L55I	ENST00000356297.4	37	c.163	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461082	0.26248	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.78595	-1.19;-1.19	4.57	2.54	0.30619	.	.	.	.	.	T	0.74435	0.3716	M	0.66378	2.025	0.25893	N	0.983448	B	0.33612	0.419	B	0.34242	0.178	T	0.64453	-0.6404	9	0.54805	T	0.06	.	9.5757	0.39457	0.0:0.0:0.5568:0.4432	.	55	A1KZ92	PXDNL_HUMAN	I	55	ENSP00000348645:L55I;ENSP00000444865:L55I	ENSP00000348645:L55I	L	-	1	2	PXDNL	52884295	1.000000	0.71417	0.368000	0.25939	0.030000	0.12068	1.023000	0.30065	0.327000	0.23409	0.650000	0.86243	CTA	PXDNL	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	G	NM_144651	Missense_Mutation	52721742	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	missense	SNP	0.995	T	T	52721742	G	T	52721742	5	4	102	1	0	0	0	0	0	0	1	0	12878	956	33	3	4320	3	PXDNL	8	52721742	Splice_Site	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	14631039	52721742	93642280	57	15008										
PHF20L1	51105	genome.wustl.edu	37	chr8	133837520	133837520	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atcttttaggtaagagaaaaGaaaaagataaggaaagaaga	10	1	1	5			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr8:133837520G>T	ENST00000395386.2	+	14	1947	c.1648G>T	c.(1648-1650)Gaa>Taa	p.E550*	PHF20L1_ENST00000220847.7_5'UTR|CTC-137K3.1_ENST00000602328.1_RNA|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E525*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	550	Lys-rich.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			Taagagaaaagaaaaagataa	0.318																																																	0													28	28	28					8																	133837520		2077	4255	6332	SO:0001587	stop_gained	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1648G>T	8.37:g.133837520G>T	ENSP00000378784:p.Glu550*		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant	p.E550*	ENST00000395386.2	37	c.1648	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	35	5.503359	0.96371	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	.	.	.	5.66	5.66	0.87406	.	0.863832	0.09570	U	0.784300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-15.4612	15.2396	0.73458	0.0:0.0:1.0:0.0	.	.	.	.	X	550;525	.	ENSP00000378784:E550X	E	+	1	0	PHF20L1	133906702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.008000	0.63991	2.669000	0.90835	0.655000	0.94253	GAA	PHF20L1	-	NULL		0.318	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133837520	1	no_errors	ENST00000395386	ensembl	human	putative	70_37	nonsense	SNP	1.000	T	T	133837520	G	T	133837520	4	4	102	1	0	0	0	0	0	1	0	0	11856	943	33	3	1794	3	PHF20L1	8	133837520	Nonsense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	81115778	133837520	12526502	58	15009										
UBAP2	54926	genome.wustl.edu	37	chr9	33922757	33922757	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tgggctggcaagatgtgtagGaatggtgggggtgcatagcc	19	5	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:33922757G>C	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379238.1_Missense_Mutation_p.F1064L|UBAP2_ENST00000379239.4_Missense_Mutation_p.F797L|UBAP2_ENST00000449054.1_Missense_Mutation_p.F1064L|UBAP2_ENST00000539807.1_Missense_Mutation_p.F819L|UBAP2_ENST00000379235.1_Missense_Mutation_p.F303L|UBAP2_ENST00000360802.1_Missense_Mutation_p.F1064L	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AGATGTGTAGGAATGGTGGGG	0.652																																																	0													64	73	70					9																	33922757		2203	4300	6503	SO:0001628	intergenic_variant	55833			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922757G>C			D3DRL5|Q9NX64	Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.F1064L	ENST00000263228.3	37	c.3192	CCDS6546.1	9	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432772	0.25813	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.65	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.78049	2.395	0.80722	D	1	B;B;B;B	0.14805	0.011;0.011;0.006;0.004	B;B;B;B	0.16722	0.016;0.016;0.009;0.004	T	0.37126	-0.9719	10	0.66056	D	0.02	-12.4199	8.3611	0.32359	0.3785:0.0:0.6215:0.0	.	819;797;973;1064	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	L	1064;1064;1064;973;303;797;819;498	ENSP00000368540:F1064L;ENSP00000416932:F1064L;ENSP00000354039:F1064L;ENSP00000368537:F303L;ENSP00000368541:F797L;ENSP00000439329:F819L	ENSP00000259602:F498L	F	-	3	2	UBAP2	33912757	1.000000	0.71417	0.321000	0.25320	0.080000	0.17528	2.587000	0.46128	0.458000	0.26988	-0.768000	0.03414	TTC	UBAP2	-	NULL		0.652	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000052118.1	G	NM_017811		33922757	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33922757	G	C	33922757	1	2	102	0	1	0	0	0	0	0	0	0	16868	1165	41	1		1	UBAP2	9	33922757	IGR	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		33922757	107290674	59	15010										
RECK	8434	genome.wustl.edu	37	chr9	36065608	36065608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tgatatttccaaagtttgcaGaaaagaatatgaggtatgca	9	4	0	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:36065608G>T	ENST00000377966.3	+	6	958	c.392G>T	c.(391-393)aGa>aTa	p.R131I	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	131	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAAGTTTGCAGAAAAGAATAT	0.264																																																	0													64	68	66					9																	36065608		2202	4282	6484	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.392G>T	9.37:g.36065608G>T	ENSP00000367202:p.Arg131Ile		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal	p.R131I	ENST00000377966.3	37	c.392	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413254	0.83449	.	.	ENSG00000122707	ENST00000377966	T	0.54279	0.58	6.06	6.06	0.98353	.	0.048653	0.85682	D	0.000000	T	0.65533	0.2700	L	0.36672	1.1	0.80722	D	1	P;P;D	0.64830	0.828;0.868;0.994	B;B;D	0.74348	0.284;0.4;0.983	T	0.65853	-0.6067	10	0.87932	D	0	-21.4263	18.1336	0.89610	0.0:0.0:1.0:0.0	.	131;131;131	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	I	131	ENSP00000367202:R131I	ENSP00000367202:R131I	R	+	2	0	RECK	36055608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.436000	0.59948	2.880000	0.98712	0.650000	0.86243	AGA	RECK	-	NULL		0.264	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	G			36065608	1	no_errors	ENST00000377966	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36065608	G	T	36065608	3	4	102	1	0	0	0	0	1	0	0	0	13230	942	33	3	414	3	RECK	9	36065608	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	2142851	36065608	105147823	60	15011										
AGTPBP1	23287	genome.wustl.edu	37	chr9	88272466	88272466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tcctttccgaatgagcatgtTtctatgccggttatcatggc	9	10	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:88272466T>C	ENST00000357081.3	-	10	937	c.793A>G	c.(793-795)Aac>Gac	p.N265D	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N265D|AGTPBP1_ENST00000376080.1_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N317D|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.N103D			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	265					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATGAGCATGTTTCTATGCCGG	0.368																																																	0													97	84	89					9																	88272466		2203	4300	6503	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.793A>G	9.37:g.88272466T>C	ENSP00000349592:p.Asn265Asp		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.N317D	ENST00000357081.3	37	c.949		9	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000531	0.54254	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.090754	0.85682	D	0.000000	T	0.28433	0.0703	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.48503	0.763;0.704;0.911;0.692	B;B;P;B	0.44990	0.288;0.15;0.466;0.366	T	0.08700	-1.0709	10	0.72032	D	0.01	-21.7119	6.7503	0.23483	0.1436:0.0:0.2511:0.6054	.	317;265;103;265	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	D	265;265;317;103	ENSP00000349592:N265D;ENSP00000365251:N265D;ENSP00000365277:N317D;ENSP00000402804:N103D	ENSP00000349592:N265D	N	-	1	0	AGTPBP1	87462286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.639000	0.61361	2.101000	0.63845	0.528000	0.53228	AAC	AGTPBP1	-	superfamily_ARM-type_fold		0.368	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	T	NM_015239		88272466	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88272466	T	C	88272466	3	2	102	1	0	0	0	0	1	0	0	0	400	1841	64	5	2835	5	AGTPBP1	9	88272466	Missense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09	52206858	88272466	52940965	61	15012										
ZNF462	58499	genome.wustl.edu	37	chr9	109691939	109691939	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cacacttgaacattcacaatGaggaattccagaagcgtgcc	8	11	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:109691939G>T	ENST00000277225.5	+	3	6035	c.5746G>T	c.(5746-5748)Gag>Tag	p.E1916*	ZNF462_ENST00000441147.2_Nonsense_Mutation_p.E761*|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.E1916*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1916					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATTCACAATGAGGAATTCCA	0.488																																																	0													119	108	111					9																	109691939		2203	4300	6503	SO:0001587	stop_gained	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5746G>T	9.37:g.109691939G>T	ENSP00000277225:p.Glu1916*		Q5T0T4|Q8N408	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1916*	ENST00000277225.5	37	c.5746	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	48	14.281953	0.99788	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	.	.	.	5.92	5.92	0.95590	.	0.047684	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	.	.	.	X	1916;1916;799;761	.	ENSP00000277225:E1916X	E	+	1	0	ZNF462	108731760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.460000	0.80816	2.813000	0.96785	0.561000	0.74099	GAG	ZNF462	-	pfscan_Znf_C2H2		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	G	NM_021224		109691939	1	no_errors	ENST00000457913	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	109691939	G	T	109691939	4	4	102	1	0	0	0	0	0	1	0	0	17956	1291	45	3	5752	3	ZNF462	9	109691939	Nonsense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	21419473	109691939	31521492	62	15013										
DBC1	1620	genome.wustl.edu	37	chr9	121929686	121929686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctatacccaaacacctgcacGtctgagatcttgatgtagaa	7	11	2	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:121929686G>A	ENST00000265922.3	-	8	2423	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	654					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											ACACCTGCACGTCTGAGATCT	0.582																																																	0													181	167	172					9																	121929686		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1962C>T	9.37:g.121929686G>A			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.D654	ENST00000265922.3	37	c.1962	CCDS6822.1	9																																																																																			DBC1	-	NULL		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		121929686	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	0.920	A	A	121929686	G	A	121929686	2	1	102	1	0	0	0	0	0	0	0	1	4252	1136	40	2		2	DBC1	9	121929686	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	12237747	121929686	19283745	63	15014										
SLC27A4	10999	genome.wustl.edu	37	chr9	131118060	131118060	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tcttcctgcgcctcctgcctGagctgcacaaaacaggtgtg	10	14	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:131118060G>C	ENST00000300456.4	+	12	1876	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	SLC27A4_ENST00000372870.1_Missense_Mutation_p.E181Q	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	587					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCTCCTGCCTGAGCTGCACAA	0.617																																					Pancreas(107;1554 2241 10946 12953)												0													87	75	79					9																	131118060		2203	4300	6503	SO:0001583	missense	10999			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1759G>C	9.37:g.131118060G>C	ENSP00000300456:p.Glu587Gln		A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E587Q	ENST00000300456.4	37	c.1759	CCDS6899.1	9	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305983	0.40795	.	.	ENSG00000167114	ENST00000372870;ENST00000300456	T;T	0.59083	0.29;0.29	4.8	3.91	0.45181	.	0.050842	0.85682	N	0.000000	T	0.46367	0.1389	L	0.38649	1.16	0.58432	D	0.999999	B;B	0.18968	0.032;0.004	B;B	0.22753	0.041;0.006	T	0.34304	-0.9834	10	0.26408	T	0.33	-25.7355	12.2047	0.54345	0.0821:0.0:0.9179:0.0	.	181;587	Q96G53;Q6P1M0	.;S27A4_HUMAN	Q	181;587	ENSP00000361961:E181Q;ENSP00000300456:E587Q	ENSP00000300456:E587Q	E	+	1	0	SLC27A4	130157881	0.727000	0.28069	0.998000	0.56505	0.982000	0.71751	0.716000	0.25836	1.250000	0.43966	0.563000	0.77884	GAG	SLC27A4	-	NULL		0.617	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2	G			131118060	1	no_errors	ENST00000300456	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131118060	G	C	131118060	3	2	102	1	0	0	0	0	1	0	0	0	14558	1291	45	1	1801	1	SLC27A4	9	131118060	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	9188374	131118060	10095371	64	15015										
SNAPC4	6621	genome.wustl.edu	37	chr9	139292753	139292753	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	taggtacaaggggcttacctGcttcagaatctgactcgaga	11	9	2	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr9:139292753G>C	ENST00000298532.2	-	1	496	c.128C>G	c.(127-129)gCa>gGa	p.A43G		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGCTTACCTGCTTCAGAATC	0.552																																																	0													108	111	110					9																	139292753		2203	4300	6503	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.128C>G	9.37:g.139292753G>C	ENSP00000298532:p.Ala43Gly			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A43G	ENST00000298532.2	37	c.128	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	g	9.765	1.171214	0.21621	.	.	ENSG00000165684	ENST00000298532	T	0.32753	1.44	4.18	3.25	0.37280	.	1.177410	0.05996	N	0.646926	T	0.32971	0.0847	M	0.63428	1.95	0.24486	N	0.994328	B	0.26445	0.149	B	0.23716	0.048	T	0.27938	-1.0059	10	0.30854	T	0.27	-10.7631	9.2203	0.37373	0.0:0.0:0.606:0.394	.	43	Q5SXM2	SNPC4_HUMAN	G	43	ENSP00000298532:A43G	ENSP00000298532:A43G	A	-	2	0	SNAPC4	138412574	0.461000	0.25783	0.650000	0.29550	0.480000	0.33159	0.424000	0.21330	1.065000	0.40693	0.651000	0.88453	GCA	SNAPC4	-	NULL		0.552	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139292753	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	missense	SNP	0.842	C	C	139292753	G	C	139292753	3	2	102	1	0	0	0	0	1	0	0	0	14867	1319	46	4	4369	4	SNAPC4	9	139292753	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	8174693	139292753	1920678	65	15016										
KCNQ1	3784	genome.wustl.edu	37	chr11	2797249	2797249	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cagtactcgcagggccacctCaacctcatggtgcgcatcaa	9	15	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:2797249C>T	ENST00000155840.5	+	13	1758	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	KCNQ1_ENST00000335475.5_Silent_p.L423L	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	550					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGGGCCACCTCAACCTCATGG	0.642																																																	0													76	58	64					11																	2797249		2195	4288	6483	SO:0001819	synonymous_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1650C>T	11.37:g.2797249C>T			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L550	ENST00000155840.5	37	c.1650	CCDS7736.1	11																																																																																			KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C		0.642	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	C	NM_000218		2797249	1	no_errors	ENST00000155840	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2797249	C	T	2797249	2	4	102	1	0	0	0	0	0	0	0	1	8102	813	29	1		1	KCNQ1	11	2797249	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		2797249	132209267	66	15017										
STK33	65975	genome.wustl.edu	37	chr11	8414079	8414079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agagtttctttttggttctgGacagggcgccggatttagca	13	7	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:8414079G>A	ENST00000447869.1	-	12	2441	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	STK33_ENST00000534493.1_Missense_Mutation_p.S467F|STK33_ENST00000358872.3_Missense_Mutation_p.S321F|STK33_ENST00000396672.1_Missense_Mutation_p.S508F|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.S508F|STK33_ENST00000396673.1_Missense_Mutation_p.S442F			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	508					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTTGGTTCTGGACAGGGCGCC	0.483																																																	0													204	200	201					11																	8414079		2201	4296	6497	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1523C>T	11.37:g.8414079G>A	ENSP00000416750:p.Ser508Phe		Q658S6|Q8NEF5	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.S508F	ENST00000447869.1	37	c.1523	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699301	0.15106	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71103	-0.46;-0.46;-0.46;-0.54;-0.53;-0.22;-0.47	6.17	3.96	0.45880	.	0.904529	0.09413	N	0.805442	T	0.53642	0.1809	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42949	-0.9421	10	0.41790	T	0.15	.	8.3238	0.32145	0.2463:0.0:0.7537:0.0	.	508	Q9BYT3	STK33_HUMAN	F	508;508;508;321;442;197;467	ENSP00000416750:S508F;ENSP00000320754:S508F;ENSP00000379905:S508F;ENSP00000351743:S321F;ENSP00000379906:S442F;ENSP00000415688:S197F;ENSP00000436418:S467F	ENSP00000320754:S508F	S	-	2	0	STK33	8370655	0.535000	0.26370	0.199000	0.23439	0.086000	0.17979	2.253000	0.43205	0.672000	0.31204	0.655000	0.94253	TCC	STK33	-	NULL		0.483	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	G	NM_030906		8414079	-1	no_errors	ENST00000315204	ensembl	human	known	70_37	missense	SNP	0.147	A	A	8414079	G	A	8414079	3	1	102	1	0	0	0	0	1	0	0	0	15330	1174	41	1	25	1	STK33	11	8414079	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	5616830	8414079	126592437	67	15018										
IPO7	10527	genome.wustl.edu	37	chr11	9450716	9450716	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tggaagctgccattgcccttCaagtattgatcagcaatcaa	8	10	3	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:9450716C>G	ENST00000379719.3	+	14	1706	c.1564C>G	c.(1564-1566)Caa>Gaa	p.Q522E	SNORA23_ENST00000365128.1_RNA|CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	522					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATTGCCCTTCAAGTATTGAT	0.408																																																	0													82	79	80					11																	9450716		2201	4295	6496	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1564C>G	11.37:g.9450716C>G	ENSP00000369042:p.Gln522Glu		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q522E	ENST00000379719.3	37	c.1564	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938534	0.92526	.	.	ENSG00000205339	ENST00000379719	T	0.66280	-0.2	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81442	0.4823	M	0.87971	2.92	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.76583	-0.2906	10	0.13470	T	0.59	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	522	O95373	IPO7_HUMAN	E	522	ENSP00000369042:Q522E	ENSP00000369042:Q522E	Q	+	1	0	IPO7	9407292	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CAA	IPO7	-	superfamily_ARM-type_fold		0.408	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	C	NM_006391		9450716	1	no_errors	ENST00000379719	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9450716	C	G	9450716	3	3	102	1	0	0	0	0	1	0	0	0	7817	827	29	1	1618	1	IPO7	11	9450716	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	1036637	9450716	125555800	68	15019										
SLC22A24	283238	genome.wustl.edu	37	chr11	62886681	62886681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aaagtgtttcccaaaatagtCatggtggagaaccctgccaa	9	9	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:62886681C>G	ENST00000417740.1	-	3	1074	c.633G>C	c.(631-633)atG>atC	p.M211I	SLC22A24_ENST00000326192.5_Missense_Mutation_p.M211I	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	211					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CCAAAATAGTCATGGTGGAGA	0.423																																																	0													109	98	101					11																	62886681		692	1591	2283	SO:0001583	missense	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.633G>C	11.37:g.62886681C>G	ENSP00000396586:p.Met211Ile			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M211I	ENST00000417740.1	37	c.633		11	.	.	.	.	.	.	.	.	.	.	C	7.322	0.617107	0.14129	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.73897	-0.79;0.33	3.86	-4.18	0.03846	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.357947	0.28203	N	0.016206	T	0.51261	0.1664	L	0.38733	1.17	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.17098	0.017;0.01	T	0.29518	-1.0009	10	0.22109	T	0.4	.	1.6031	0.02679	0.1457:0.212:0.1455:0.4969	.	211;211	Q8N4F4;C9JC66	S22AO_HUMAN;.	I	211	ENSP00000396586:M211I;ENSP00000321549:M211I	ENSP00000321549:M211I	M	-	3	0	SLC22A24	62643257	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.199000	0.03032	-0.751000	0.04734	-0.499000	0.04595	ATG	SLC22A24	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.423	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62886681	-1	no_errors	ENST00000326192	ensembl	human	known	70_37	missense	SNP	0.000	G	G	62886681	C	G	62886681	3	3	102	1	0	0	0	0	1	0	0	0	14483	826	29	1	1052	1	SLC22A24	11	62886681	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	53435965	62886681	72119835	69	15020										
SLC22A24	283238	genome.wustl.edu	37	chr11	62886759	62886759	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	aaggccgcacaggtgttagaGatggccagctggaggaaaca	15	8	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:62886759G>C	ENST00000417740.1	-	3	996	c.555C>G	c.(553-555)atC>atG	p.I185M	SLC22A24_ENST00000326192.5_Missense_Mutation_p.I185M	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	185					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						AGGTGTTAGAGATGGCCAGCT	0.443																																																	0													161	147	151					11																	62886759		692	1591	2283	SO:0001583	missense	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.555C>G	11.37:g.62886759G>C	ENSP00000396586:p.Ile185Met			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I185M	ENST00000417740.1	37	c.555		11	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697245	0.48202	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.80738	-1.41;0.18	3.86	-0.336	0.12658	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.444589	0.24052	U	0.041997	D	0.86669	0.5988	M	0.80422	2.495	0.09310	N	1	B;D	0.89917	0.443;1.0	P;D	0.77557	0.525;0.99	T	0.77574	-0.2537	10	0.56958	D	0.05	.	7.9133	0.29803	0.3856:0.0:0.6144:0.0	.	185;185	Q8N4F4;C9JC66	S22AO_HUMAN;.	M	185	ENSP00000396586:I185M;ENSP00000321549:I185M	ENSP00000321549:I185M	I	-	3	3	SLC22A24	62643335	0.000000	0.05858	0.000000	0.03702	0.548000	0.35241	-1.190000	0.03058	-0.248000	0.09583	0.501000	0.49751	ATC	SLC22A24	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.443	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	G	NM_173586		62886759	-1	no_errors	ENST00000326192	ensembl	human	known	70_37	missense	SNP	0.028	C	C	62886759	G	C	62886759	3	2	102	1	0	0	0	0	1	0	0	0	14483	932	33	1	1130	1	SLC22A24	11	62886759	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	78	62886759	72119757	70	15021										
MARK2	2011	genome.wustl.edu	37	chr11	63668148	63668149	+	Splice_Site	DNP	GA	GA	CT													0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccagcaagagaggcactttaGaggtgagcagtggagcccaa							TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:63668148_63668149GA>CT	ENST00000509502.2	+	9	1250_1251	c.787_788GA>CT	c.(787-789)GAg>CTg	p.E263L	MARK2_ENST00000508192.1_Splice_Site_p.E296L|MARK2_ENST00000408948.3_Splice_Site_p.E263L|MARK2_ENST00000361128.5_Splice_Site_p.E296L|MARK2_ENST00000377809.4_Splice_Site_p.E296L|MARK2_ENST00000350490.7_Splice_Site_p.E296L|MARK2_ENST00000402010.2_Splice_Site_p.E296L|MARK2_ENST00000513765.2_Splice_Site_p.E263L|MARK2_ENST00000315032.8_Splice_Site_p.E296L|MARK2_ENST00000502399.3_Splice_Site_p.E296L|MARK2_ENST00000425897.2_Splice_Site_p.E263L|MARK2_ENST00000413835.2_Splice_Site_p.E296L|MARK2_ENST00000377810.3_Splice_Site_p.E263L	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCACTTTAGAGGTGAGCAGT	0.51																																																	0																																										SO:0001630	splice_region_variant	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	Exception_encountered	11.37:g.63668148_63668149delinsCT				Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E296Q|p.E296V	ENST00000509502.2	37	c.886|c.887	CCDS41665.1	11																																																																																			MARK2	-	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		0.51	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	G|A	NM_017490	Missense_Mutation	63668148|63668149	1	no_errors	ENST00000402010	ensembl	human	known	70_37	missense	SNP	1.000	C|T	CT	63668149	GA	CT	63668148	5	2	102	1	0	0	0	0	0	0	1	0	9336	943	33	1	920	1	MARK2	11	63668148	Splice_Site	DNP	GA	TCGA-EK-A2R7-01A-11D-A18J-09	781389	63668148	71338368	71	15022										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103025519	103025519	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gatgacagtgaaattacaatCagaggttgacaaatataaag	9	4	1	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr11:103025519C>T	ENST00000375735.2	+	24	3698	c.3554C>T	c.(3553-3555)tCa>tTa	p.S1185L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S1185L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1185	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAATTACAATCAGAGGTTGAC	0.303																																																	0													49	43	45					11																	103025519		1813	4056	5869	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3554C>T	11.37:g.103025519C>T	ENSP00000364887:p.Ser1185Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S1185L	ENST00000375735.2	37	c.3554	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920798	0.33908	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.61627	0.09;0.09	5.56	4.65	0.58169	Dynein heavy chain, domain-2 (1);	0.998738	0.08099	N	0.998182	T	0.49167	0.1541	L	0.43554	1.36	0.26370	N	0.976905	P;B	0.34909	0.475;0.23	B;B	0.33121	0.158;0.098	T	0.39603	-0.9606	10	0.35671	T	0.21	.	7.8789	0.29610	0.2628:0.6568:0.0:0.0805	.	1185;1185	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	1185	ENSP00000364887:S1185L;ENSP00000381167:S1185L	ENSP00000364887:S1185L	S	+	2	0	DYNC2H1	102530729	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.592000	0.46171	1.385000	0.46445	0.650000	0.86243	TCA	DYNC2H1	-	pfam_Dynein_heavy_dom-2		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103025519	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	0.998	T	T	103025519	C	T	103025519	3	4	102	1	0	0	0	0	1	0	0	0	4856	838	29	1	3648	1	DYNC2H1	11	103025519	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	39357371	103025519	31980997	72	15023										
ATN1	1822	genome.wustl.edu	37	chr12	7047952	7047952	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gaagcccgtgaacgagacctCcgtgaccgcctcaagcctgg	12	15	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr12:7047952C>A	ENST00000356654.4	+	7	3063	c.2826C>A	c.(2824-2826)ctC>ctA	p.L942L	ATN1_ENST00000396684.2_Silent_p.L942L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	942					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AACGAGACCTCCGTGACCGCC	0.652																																																	0													52	61	58					12																	7047952		2203	4300	6503	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2826C>A	12.37:g.7047952C>A			Q99495|Q99621|Q9UEK7	Silent	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.L942	ENST00000356654.4	37	c.2826	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like		0.652	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	C	NM_001940		7047952	1	no_errors	ENST00000356654	ensembl	human	known	70_37	silent	SNP	0.974	A	A	7047952	C	A	7047952	2	1	102	1	0	0	0	0	0	0	0	1	1112	842	30	3		3	ATN1	12	7047952	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		7047952	126803943	73	15024										
LRP6	4040	genome.wustl.edu	37	chr12	12318043	12318043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atgaacatttgtagcctttaGgcccatgaggtcaggcagct	11	9	1	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr12:12318043G>C	ENST00000261349.4	-	8	1808	c.1732C>G	c.(1732-1734)Cta>Gta	p.L578V	LRP6_ENST00000543091.1_Missense_Mutation_p.L578V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	578	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTAGCCTTTAGGCCCATGAGG	0.443																																																	0													148	136	140					12																	12318043		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1732C>G	12.37:g.12318043G>C	ENSP00000261349:p.Leu578Val		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L578V	ENST00000261349.4	37	c.1732	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428079	0.43122	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93547	-3.24;-3.24	5.12	4.23	0.50019	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48767	D	0.000171	D	0.93973	0.8070	L	0.42686	1.345	0.58432	D	0.999999	D;B	0.67145	0.996;0.021	D;B	0.72625	0.978;0.056	D	0.92029	0.5632	10	0.29301	T	0.29	.	11.1903	0.48681	0.1498:0.0:0.8502:0.0	.	578;578	F5H7J9;O75581	.;LRP6_HUMAN	V	578	ENSP00000261349:L578V;ENSP00000442472:L578V	ENSP00000261349:L578V	L	-	1	2	LRP6	12209310	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.834000	0.62774	1.289000	0.44618	0.460000	0.39030	CTA	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	G			12318043	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12318043	G	C	12318043	3	2	102	1	0	0	0	0	1	0	0	0	8985	991	35	4	3173	4	LRP6	12	12318043	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	5270091	12318043	121533852	74	15025										
C12orf40	283461	genome.wustl.edu	37	chr12	40114701	40114701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agaaaggatggcaaaactttCaggtgacaggattgttaaaa	11	4	1	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr12:40114701C>T	ENST00000324616.5	+	13	1761	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	536										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GCAAAACTTTCAGGTGACAGG	0.318																																																	0													75	76	76					12																	40114701		1819	4069	5888	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1607C>T	12.37:g.40114701C>T	ENSP00000317671:p.Ser536Leu		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.S536L	ENST00000324616.5	37	c.1607	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	C	3.709	-0.059967	0.07317	.	.	ENSG00000180116	ENST00000324616	T	0.44881	0.91	4.75	2.44	0.29823	.	0.819063	0.10506	N	0.666728	T	0.23649	0.0572	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23084	-1.0198	10	0.25751	T	0.34	.	6.5824	0.22602	0.0:0.7107:0.0:0.2893	.	536	Q86WS4	CL040_HUMAN	L	536	ENSP00000317671:S536L	ENSP00000317671:S536L	S	+	2	0	C12orf40	38400968	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.779000	0.26746	0.444000	0.26612	0.585000	0.79938	TCA	C12orf40	-	NULL		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	C	NM_173599		40114701	1	no_errors	ENST00000324616	ensembl	human	known	70_37	missense	SNP	0.001	T	T	40114701	C	T	40114701	3	4	102	1	0	0	0	0	1	0	0	0	1690	838	29	1	1657	1	C12orf40	12	40114701	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	27796658	40114701	93737194	75	15026										
NUP107	57122	genome.wustl.edu	37	chr12	69083385	69083385	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tatccctcgaactcctagctCatttcgacagccttgtaaga	6	13	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr12:69083385C>G	ENST00000229179.4	+	3	505	c.173C>G	c.(172-174)tCa>tGa	p.S58*	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.H20D|RP11-637A17.2_ENST00000500695.2_lincRNA	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	58					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTCCTAGCTCATTTCGACAG	0.313																																																	0													104	102	102					12																	69083385		2203	4300	6503	SO:0001587	stop_gained	57122			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.173C>G	12.37:g.69083385C>G	ENSP00000229179:p.Ser58*		B4DZ67|Q6PJE1	Nonsense_Mutation	SNP	pfam_Nup84_Nup100	p.S58*	ENST00000229179.4	37	c.173	CCDS8985.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.998013|6.998013	0.97990|0.97990	.|.	.|.	ENSG00000111581|ENSG00000111581	ENST00000539906|ENST00000229179	.|.	.|.	.|.	5.45|5.45	4.57|4.57	0.56435|0.56435	.|.	.|0.195503	.|0.46442	.|D	.|0.000286	T|.	0.60715|.	0.2290|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.16166|.	0.016|.	B|.	0.14023|.	0.01|.	T|.	0.58983|.	-0.7539|.	6|.	.|.	.|.	.|.	-9.8195|-9.8195	10.3125|10.3125	0.43716|0.43716	0.0:0.909:0.0:0.091|0.0:0.909:0.0:0.091	.|.	20|.	B4DZ67|.	.|.	D|X	20|58	.|.	.|.	H|S	+|+	1|2	0|0	NUP107|NUP107	67369652|67369652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.458000|2.458000	0.45014|0.45014	1.443000|1.443000	0.47586|0.47586	0.655000|0.655000	0.94253|0.94253	CAT|TCA	NUP107	-	NULL		0.313	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	C	NM_020401		69083385	1	no_errors	ENST00000229179	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	69083385	C	G	69083385	4	3	102	1	0	0	0	0	0	1	0	0	10777	838	29	1	183	1	NUP107	12	69083385	Nonsense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	28968684	69083385	64768510	76	15027										
FAM71C	196472	genome.wustl.edu	37	chr12	100042400	100042400	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccacgggccgctctttttatCttcagctgtgtcctccatcg	8	15	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr12:100042400C>G	ENST00000324341.1	+	1	870	c.448C>G	c.(448-450)Ctt>Gtt	p.L150V	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	150										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTTTTTATCTTCAGCTGTG	0.468																																																	0													64	62	63					12																	100042400		2203	4300	6503	SO:0001583	missense	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.448C>G	12.37:g.100042400C>G	ENSP00000315247:p.Leu150Val		B2R6Y6	Missense_Mutation	SNP	pfam_DUF3699	p.L150V	ENST00000324341.1	37	c.448	CCDS9072.1	12	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516500	0.44763	.	.	ENSG00000180219	ENST00000324341	T	0.33438	1.41	3.64	3.64	0.41730	.	0.219650	0.31290	N	0.007905	T	0.59293	0.2183	M	0.91354	3.2	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.67764	-0.5586	9	.	.	.	-9.635	11.1176	0.48270	0.0:1.0:0.0:0.0	.	150	Q8NEG0	FA71C_HUMAN	V	150	ENSP00000315247:L150V	.	L	+	1	0	FAM71C	98566531	0.966000	0.33281	0.341000	0.25589	0.638000	0.38207	3.614000	0.54160	2.318000	0.78349	0.555000	0.69702	CTT	FAM71C	-	pfam_DUF3699		0.468	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	C	NM_153364		100042400	1	no_errors	ENST00000324341	ensembl	human	known	70_37	missense	SNP	0.602	G	G	100042400	C	G	100042400	3	3	102	1	0	0	0	0	1	0	0	0	5627	913	32	1	450	1	FAM71C	12	100042400	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	30959015	100042400	33809495	77	15028										
KDM2B	84678	genome.wustl.edu	37	chr12	121880462	121880462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cttcaccttcttcttctcctCcgggccctcggccccttcgg	7	20	4	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr12:121880462C>T	ENST00000377071.4	-	19	2854	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	KDM2B_ENST00000542973.1_Missense_Mutation_p.E296K|KDM2B_ENST00000377069.4_Missense_Mutation_p.E859K|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	928					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCTTCTCCTCCGGGCCCTCG	0.677																																																	0													19	21	20					12																	121880462		1999	4161	6160	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2782G>A	12.37:g.121880462C>T	ENSP00000366271:p.Glu928Lys		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E928K	ENST00000377071.4	37	c.2782	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590579	0.66219	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25414	2.13;2.46;1.8	5.72	5.72	0.89469	.	0.199500	0.34802	N	0.003679	T	0.22437	0.0541	L	0.42245	1.32	0.80722	D	1	P;B;B;B	0.34522	0.455;0.001;0.361;0.0	B;B;B;B	0.32211	0.142;0.001;0.079;0.001	T	0.02138	-1.1207	10	0.35671	T	0.21	-27.9828	13.1112	0.59275	0.0:0.9271:0.0:0.0729	.	368;928;859;371	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	K	916;296;859;928;371;931	ENSP00000437821:E296K;ENSP00000366269:E859K;ENSP00000366271:E928K	ENSP00000261824:E931K	E	-	1	0	KDM2B	120364845	0.757000	0.28394	0.958000	0.39756	0.918000	0.54935	1.212000	0.32394	2.698000	0.92095	0.655000	0.94253	GAG	KDM2B	-	NULL		0.677	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	C	NM_032590		121880462	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	missense	SNP	0.985	T	T	121880462	C	T	121880462	3	4	102	1	0	0	0	0	1	0	0	0	8145	864	30	1	1300	1	KDM2B	12	121880462	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	21838062	121880462	11971433	78	15029										
AKAP11	11215	genome.wustl.edu	37	chr13	42891750	42891750	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cccagctaaggattattcttCagtggctcattgcctctgag	9	11	4	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr13:42891750C>T	ENST00000025301.2	+	12	5666	c.5491C>T	c.(5491-5493)Cag>Tag	p.Q1831*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1831					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GATTATTCTTCAGTGGCTCAT	0.413																																																	0													118	103	108					13																	42891750		2203	4300	6503	SO:0001587	stop_gained	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5491C>T	13.37:g.42891750C>T	ENSP00000025301:p.Gln1831*		O75124|Q9NUK7	Nonsense_Mutation	SNP	NULL	p.Q1831*	ENST00000025301.2	37	c.5491	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	46	12.902641	0.99705	.	.	ENSG00000023516	ENST00000025301	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0424	0.97595	0.0:1.0:0.0:0.0	.	.	.	.	X	1831	.	ENSP00000025301:Q1831X	Q	+	1	0	AKAP11	41789750	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.149000	0.71795	2.725000	0.93324	0.557000	0.71058	CAG	AKAP11	-	NULL		0.413	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	C	NM_016248		42891750	1	no_errors	ENST00000025301	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	42891750	C	T	42891750	4	4	102	1	0	0	0	0	0	1	0	0	447	827	29	1	5529	1	AKAP11	13	42891750	Nonsense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		42891750	72278128	79	15030										
SUPT16H	11198	genome.wustl.edu	37	chr14	21821725	21821725	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	caatgactccttagaatagtCtggaagaaaattaattaagc	7	6	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:21821725C>G	ENST00000216297.2	-	25	3259		c.e25-1			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTAGAATAGTCTGGAAGAAAA	0.363																																																	0													86	87	87					14																	21821725		2203	4300	6503	SO:0001630	splice_region_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2921-1G>C	14.37:g.21821725C>G			Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Splice_Site	SNP	-	e25-1	ENST00000216297.2	37	c.2921-1	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070078	0.76301	.	.	ENSG00000092201	ENST00000216297	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2967	0.87172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUPT16H	20891565	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.712000	0.61888	2.426000	0.82243	0.650000	0.86243	.	SUPT16H	-	-		0.363	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	C		Intron	21821725	-1	no_errors	ENST00000216297	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	21821725	C	G	21821725	5	3	102	1	0	0	0	0	0	0	1	0	15426	927	32	1	231	1	SUPT16H	14	21821725	Splice_Site	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		21821725	85527815	80	15031										
CMTM5	116173	genome.wustl.edu	37	chr14	23847620	23847620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tctgcctacatggccgcggcGctactggagttcttcatcac	10	14	4	0	rs570921659		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:23847620G>A	ENST00000339180.4	+	2	405	c.189G>A	c.(187-189)gcG>gcA	p.A63A	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Silent_p.A63A|CMTM5_ENST00000382809.2_Silent_p.A63A|CMTM5_ENST00000555731.1_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	63	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TGGCCGCGGCGCTACTGGAGT	0.567													G|||	1	0.000199681	0	0.0014	5008	,	,		19696	0		0	False		,,,				2504	0																0													218	174	189					14																	23847620		2203	4300	6503	SO:0001819	synonymous_variant	116173			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"chemokine-like factor super family 5", "chemokine-like factor superfamily 5"	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.189G>A	14.37:g.23847620G>A			E9PH91|Q5PY48	Silent	SNP	NULL	p.A63	ENST00000339180.4	37	c.189		14																																																																																			CMTM5	-	NULL		0.567	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	HGNC	protein_coding	OTTHUMT00000133708.2	G			23847620	1	no_errors	ENST00000339180	ensembl	human	known	70_37	silent	SNP	0.021	A	A	23847620	G	A	23847620	2	1	102	1	0	0	0	0	0	0	0	1	3591	1074	38	2		2	CMTM5	14	23847620	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	2025895	23847620	83501920	81	15032										
NYNRIN	57523	genome.wustl.edu	37	chr14	24886651	24886651	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cttcaaggtcttggagcagtGagcgggagcagcgggggtgc	19	8	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:24886651G>T	ENST00000382554.3	+	9	6014	c.5696G>T	c.(5695-5697)tGa>tTa	p.*1899L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	0					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTGGAGCAGTGAGCGGGAGCA	0.647																																																	0													7	7	7					14																	24886651		1901	4096	5997	SO:0001578	stop_lost	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5696G>T	14.37:g.24886651G>T	ENSP00000371994:p.*1899Leuext*109		Q6P153|Q86TR3|Q9HAC4	Nonstop_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.*1899L	ENST00000382554.3	37	c.5696	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324650	0.24080	.	.	ENSG00000205978	ENST00000382554	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5761	0.33598	0.1044:0.0:0.8956:0.0	.	.	.	.	L	1899	.	.	X	+	2	2	NYNRIN	23956491	1.000000	0.71417	0.987000	0.45799	0.480000	0.33159	1.207000	0.32333	1.410000	0.46936	0.563000	0.77884	TGA	NYNRIN	-	NULL		0.647	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	G			24886651	1	no_errors	ENST00000382554	ensembl	human	known	70_37	nonstop	SNP	0.992	T	T	24886651	G	T	24886651	4	4	102	1	0	0	0	0	0	0	0	0	10820	1285	45	3	5726	3	NYNRIN	14	24886651	Nonstop_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	1039031	24886651	82462889	82	15033										
HEATR5A	25938	genome.wustl.edu	37	chr14	31774366	31774366	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctctggcagagtttccttttCagcagccccatcatcaacta	6	14	4	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:31774366C>A	ENST00000389961.3	-	31	4965	c.4966G>T	c.(4966-4968)Gaa>Taa	p.E1656*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E1656*|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.E1369*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.E1662*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1656										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTTTCCTTTTCAGCAGCCCCA	0.423																																																	0													51	49	50					14																	31774366		1866	4122	5988	SO:0001587	stop_gained	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4966G>T	14.37:g.31774366C>A	ENSP00000374611:p.Glu1656*		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E1656*	ENST00000389961.3	37	c.4966		14	.	.	.	.	.	.	.	.	.	.	C	47	13.119693	0.99721	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.	.	.	5.92	5.92	0.95590	.	0.098232	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	.	.	.	X	1656;1656;1369;1662	.	ENSP00000374611:E1656X	E	-	1	0	HEATR5A	30844117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.818000	0.97014	0.655000	0.94253	GAA	HEATR5A	-	superfamily_ARM-type_fold		0.423	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		C	NM_015473		31774366	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31774366	C	A	31774366	4	1	102	1	0	0	0	0	0	1	0	0	7051	835	29	3	1176	3	HEATR5A	14	31774366	Nonsense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	6887715	31774366	75575174	83	15034										
C14orf101	54916	genome.wustl.edu	37	chr14	57088329	57088329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tatgcctcatgatgcaattaTcttactcagaggagatttgc	8	8	3	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:57088329T>C	ENST00000261556.6	+	11	1429	c.1307T>C	c.(1306-1308)aTc>aCc	p.I436T	TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	436						integral component of membrane (GO:0016021)											GATGCAATTATCTTACTCAGA	0.398																																																	0													136	122	126					14																	57088329		2203	4300	6503	SO:0001583	missense	54916			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1307T>C	14.37:g.57088329T>C	ENSP00000261556:p.Ile436Thr		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.I436T	ENST00000261556.6	37	c.1307	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806911	0.50421	.	.	ENSG00000070269	ENST00000261556	T	0.36340	1.26	5.23	5.23	0.72850	.	0.160399	0.53938	D	0.000049	T	0.37100	0.0991	L	0.56769	1.78	0.80722	D	1	P	0.36282	0.546	B	0.34180	0.177	T	0.37103	-0.9720	10	0.87932	D	0	-13.1643	15.1113	0.72359	0.0:0.0:0.0:1.0	.	436	Q9NX78	CN101_HUMAN	T	436	ENSP00000261556:I436T	ENSP00000261556:I436T	I	+	2	0	C14orf101	56158082	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.264000	0.78432	1.976000	0.57569	0.533000	0.62120	ATC	C14orf101	-	NULL		0.398	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf101	HGNC	protein_coding	OTTHUMT00000276924.1	T	NM_017799		57088329	1	no_errors	ENST00000261556	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57088329	T	C	57088329	3	2	102	1	0	0	0	0	1	0	0	0	1738	1435	50	5	1349	5	C14orf101	14	57088329	Missense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09	25313963	57088329	50261211	84	15035										
ABCD4	5826	genome.wustl.edu	37	chr14	74753409	74753409	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tgtgagcacgggtaccttctCaaggctctgccgatgtccca	11	13	2	1	rs387907315		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:74753409C>G	ENST00000356924.4	-	18	1890	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.E479Q	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	583	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GGTACCTTCTCAAGGCTCTGC	0.602																																																	0													72	58	63					14																	74753409		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1747G>C	14.37:g.74753409C>G	ENSP00000349396:p.Glu583Gln		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E583Q	ENST00000356924.4	37	c.1747	CCDS9828.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.78|15.78	2.933511|2.933511	0.52866|0.52866	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816|ENST00000555904	D;D|D	0.92545|0.93426	-2.65;-3.06|-3.22	4.94|4.94	4.94|4.94	0.65067|0.65067	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.175703|.	0.49305|.	D|.	0.000160|.	D|D	0.86665|0.86665	0.5987|0.5987	N|N	0.04959|0.04959	-0.14|-0.14	0.52099|0.52099	D|D	0.999947|0.999947	B;B;B|.	0.11235|.	0.004;0.001;0.001|.	B;B;B|.	0.09377|.	0.004;0.003;0.003|.	D|D	0.84395|0.84395	0.0557|0.0557	10|6	0.21540|.	T|.	0.41|.	.|.	14.0206|14.0206	0.64553|0.64553	0.0:0.8489:0.1511:0.0|0.0:0.8489:0.1511:0.0	.|.	479;583;583|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	Q|F	583;479|98	ENSP00000349396:E583Q;ENSP00000298816:E479Q|ENSP00000450982:L98F	ENSP00000298816:E479Q|.	E|L	-|-	1|3	0|2	ABCD4|ABCD4	73823162|73823162	0.998000|0.998000	0.40836|0.40836	0.976000|0.976000	0.42696|0.42696	0.968000|0.968000	0.65278|0.65278	3.717000|3.717000	0.54911|0.54911	2.577000|2.577000	0.86979|0.86979	0.585000|0.585000	0.79938|0.79938	GAG|TTG	ABCD4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	C	NM_005050		74753409	-1	no_errors	ENST00000356924	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74753409	C	G	74753409	3	3	102	1	0	0	0	0	1	0	0	0	63	835	29	1	81	1	ABCD4	14	74753409	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	17665080	74753409	32596131	85	15036										
NRXN3	9369	genome.wustl.edu	37	chr14	79454458	79454458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctgtgattgttctatgacctCttattctggaaaccagtgca	8	9	3	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:79454458C>T	ENST00000554719.1	+	12	2608	c.2117C>T	c.(2116-2118)tCt>tTt	p.S706F	NRXN3_ENST00000335750.5_Missense_Mutation_p.S706F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCTATGACCTCTTATTCTGGA	0.438																																																	0													167	155	159					14																	79454458		2203	4300	6503	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.2117C>T	14.37:g.79454458C>T	ENSP00000451648:p.Ser706Phe		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1068F	ENST00000554719.1	37	c.3203	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423552	0.62733	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.63913	-0.07;-0.07	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.79669	-0.1707	8	.	.	.	.	20.1386	0.98045	0.0:1.0:0.0:0.0	.	1079;706	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	F	1079;1068;706;706	ENSP00000451648:S706F;ENSP00000338349:S706F	.	S	+	2	0	NRXN3	78524211	1.000000	0.71417	0.179000	0.23059	0.093000	0.18481	7.788000	0.85771	2.767000	0.95098	0.561000	0.74099	TCT	NRXN3	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom		0.438	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	C	NM_001105250		79454458	1	no_errors	ENST00000554738	ensembl	human	known	70_37	missense	SNP	0.999	T	T	79454458	C	T	79454458	3	4	102	1	0	0	0	0	1	0	0	0	10691	913	32	1	2155	1	NRXN3	14	79454458	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	4701049	79454458	27895082	86	15037										
BTBD7	55727	genome.wustl.edu	37	chr14	93709190	93709190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttgagaagtcatagaaatccGgatattcctgtggattttct	9	6	2	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:93709190G>A	ENST00000334746.5	-	11	3135	c.2828C>T	c.(2827-2829)cCg>cTg	p.P943L	BTBD7_ENST00000393170.2_Missense_Mutation_p.P517L|BTBD7_ENST00000554565.1_Missense_Mutation_p.P592L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	943					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATAGAAATCCGGATATTCCTG	0.468																																																	0													188	179	182					14																	93709190		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2828C>T	14.37:g.93709190G>A	ENSP00000335615:p.Pro943Leu		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P943L	ENST00000334746.5	37	c.2828	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381664	0.82792	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.52526	0.99;0.66	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.62506	-0.6840	10	0.87932	D	0	.	20.27	0.98469	0.0:0.0:1.0:0.0	.	517;592;943	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	L	943;592;558;517	ENSP00000335615:P943L;ENSP00000451010:P592L	ENSP00000335615:P943L	P	-	2	0	BTBD7	92778943	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.017000	0.76399	2.804000	0.96469	0.655000	0.94253	CCG	BTBD7	-	NULL		0.468	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	G	NM_001002860		93709190	-1	no_errors	ENST00000334746	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93709190	G	A	93709190	3	1	102	1	0	0	0	0	1	0	0	0	1549	1116	39	2	574	2	BTBD7	14	93709190	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	14254732	93709190	13640350	87	15038										
C14orf49	161176	genome.wustl.edu	37	chr14	95932372	95932372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gaacagggaggctgcctcctCcagcagccggtccaggagca	14	14	0	0	rs542535872	byFrequency	TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:95932372C>G	ENST00000334258.5	-	3	537	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	SYNE3_ENST00000557275.1_Missense_Mutation_p.E175Q|SYNE3_ENST00000553340.1_Missense_Mutation_p.E175Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	175					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GCTGCCTCCTCCAGCAGCCGG	0.632																																																	0													76	69	71					14																	95932372		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.523G>C	14.37:g.95932372C>G	ENSP00000334308:p.Glu175Gln		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E175Q	ENST00000334258.5	37	c.523	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	c	22.9	4.349409	0.82132	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.36340	1.26;1.26;1.26	4.12	4.12	0.48240	.	0.000000	0.38778	N	0.001569	T	0.53384	0.1793	M	0.64997	1.995	0.50313	D	0.999869	D;D;D	0.63046	0.992;0.987;0.987	P;P;P	0.61003	0.882;0.799;0.765	T	0.55630	-0.8111	10	0.41790	T	0.15	-23.79	16.4126	0.83723	0.0:1.0:0.0:0.0	.	175;175;175	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	Q	175	ENSP00000334308:E175Q;ENSP00000450562:E175Q;ENSP00000450774:E175Q	ENSP00000334308:E175Q	E	-	1	0	C14orf49	95002125	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.289000	0.78701	1.828000	0.53243	0.298000	0.19748	GAG	SYNE3	-	NULL		0.632	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95932372	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95932372	C	G	95932372	3	3	102	1	0	0	0	0	1	0	0	0	1780	864	30	1	2464	1	C14orf49	14	95932372	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	2223182	95932372	11417168	88	15039										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102493773	102493773	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gaagatctacggacagtgttGagacgttctggctgtaaaaa	12	6	2	2	rs568215465		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr14:102493773G>C	ENST00000360184.4	+	46	9104	c.8940G>C	c.(8938-8940)ttG>ttC	p.L2980F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2980	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.L2980F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGACAGTGTTGAGACGTTCTG	0.428																																																	1	Substitution - Missense(1)	lung(1)											118	112	114					14																	102493773		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8940G>C	14.37:g.102493773G>C	ENSP00000348965:p.Leu2980Phe		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L2980F	ENST00000360184.4	37	c.8940	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420470	0.83559	.	.	ENSG00000197102	ENST00000360184	T	0.43688	0.94	6.06	6.06	0.98353	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.071171	0.64402	D	0.000016	T	0.68007	0.2954	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.67585	-0.5633	10	0.59425	D	0.04	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	2980	Q14204	DYHC1_HUMAN	F	2980	ENSP00000348965:L2980F	ENSP00000348965:L2980F	L	+	3	2	DYNC1H1	101563526	1.000000	0.71417	0.232000	0.24009	0.924000	0.55760	3.499000	0.53310	2.880000	0.98712	0.650000	0.86243	TTG	DYNC1H1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.428	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102493773	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102493773	G	C	102493773	3	2	102	1	0	0	0	0	1	0	0	0	4851	1281	45	1	9122	1	DYNC1H1	14	102493773	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	6561401	102493773	4855767	89	15040										
BAHD1	22893	genome.wustl.edu	37	chr15	40750915	40750915	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gagaatgtggccggtccccgGagtgcagatgaggctgatga	17	8	0	5			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr15:40750915G>A	ENST00000416165.1	+	2	323	c.252G>A	c.(250-252)cgG>cgA	p.R84R	BAHD1_ENST00000560846.1_Silent_p.R84R|BAHD1_ENST00000561234.1_Silent_p.R84R	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	84					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCGGTCCCCGGAGTGCAGATG	0.647																																																	0													41	44	43					15																	40750915		2203	4300	6503	SO:0001819	synonymous_variant	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.252G>A	15.37:g.40750915G>A			Q8NDF7|Q9Y2F4	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R84	ENST00000416165.1	37	c.252	CCDS10058.1	15																																																																																			BAHD1	-	NULL		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	G	NM_014952		40750915	1	no_errors	ENST00000416165	ensembl	human	known	70_37	silent	SNP	0.699	A	A	40750915	G	A	40750915	2	1	102	1	0	0	0	0	0	0	0	1	1298	1161	41	1		1	BAHD1	15	40750915	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		40750915	61780477	90	15041										
SPESP1	246777	genome.wustl.edu	37	chr15	69238196	69238196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ccctacaggaggcttcacacCggaaataggaaagaaaaaac	9	10	1	1	rs111627351		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr15:69238196C>T	ENST00000310673.3	+	2	477	c.323C>T	c.(322-324)cCg>cTg	p.P108L	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	108					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GGCTTCACACCGGAAATAGGA	0.403																																																	0													65	65	65					15																	69238196		2200	4298	6498	SO:0001583	missense	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.323C>T	15.37:g.69238196C>T	ENSP00000312284:p.Pro108Leu		Q8NG22|Q8WVH8	Missense_Mutation	SNP	NULL	p.P108L	ENST00000310673.3	37	c.323	CCDS10230.1	15	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.057208	0.01965	.	.	ENSG00000258484	ENST00000310673	T	0.20598	2.06	5.21	-1.74	0.08056	.	1.241020	0.06240	N	0.690176	T	0.06188	0.0160	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34750	-0.9816	10	0.02654	T	1	0.557	5.0442	0.14475	0.1463:0.405:0.0:0.4487	.	108	Q6UW49	SPESP_HUMAN	L	108	ENSP00000312284:P108L	ENSP00000312284:P108L	P	+	2	0	SPESP1	67025250	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.595000	0.05727	-0.226000	0.09899	-0.345000	0.07892	CCG	SPESP1	-	NULL		0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPESP1	HGNC	protein_coding	OTTHUMT00000257125.1	C	NM_145658		69238196	1	no_errors	ENST00000310673	ensembl	human	known	70_37	missense	SNP	0.000	T	T	69238196	C	T	69238196	3	4	102	1	0	0	0	0	1	0	0	0	15070	652	23	2	329	2	SPESP1	15	69238196	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	28487281	69238196	33293196	91	15042										
ISLR	3671	genome.wustl.edu	37	chr15	74467327	74467327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tgcctaccgcgacctagaatCcgtgccgcctggcttcccgg	11	17	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr15:74467327C>T	ENST00000249842.3	+	2	485	c.128C>T	c.(127-129)tCc>tTc	p.S43F	ISLR_ENST00000395118.1_Missense_Mutation_p.S43F|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	43	LRRNT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GACCTAGAATCCGTGCCGCCT	0.657																																																	0													65	57	60					15																	74467327		2198	4297	6495	SO:0001583	missense	3671			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.128C>T	15.37:g.74467327C>T	ENSP00000249842:p.Ser43Phe			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like	p.S43F	ENST00000249842.3	37	c.128	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	2.305	-0.359340	0.05138	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.44881	0.91;0.91	4.05	2.01	0.26516	Leucine-rich repeat-containing N-terminal (1);	0.956525	0.08512	U	0.934785	T	0.40743	0.1129	M	0.63169	1.94	0.09310	N	1	B	0.25272	0.122	B	0.24541	0.054	T	0.35400	-0.9790	10	0.51188	T	0.08	.	8.2098	0.31478	0.4485:0.4177:0.1338:0.0	.	43	O14498	ISLR_HUMAN	F	43	ENSP00000249842:S43F;ENSP00000378550:S43F	ENSP00000249842:S43F	S	+	2	0	ISLR	72254380	0.000000	0.05858	0.016000	0.15963	0.017000	0.09413	0.127000	0.15790	0.153000	0.19213	0.313000	0.20887	TCC	ISLR	-	NULL		0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	C	NM_005545		74467327	1	no_errors	ENST00000249842	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74467327	C	T	74467327	3	4	102	1	0	0	0	0	1	0	0	0	7878	855	30	1	130	1	ISLR	15	74467327	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	5229131	74467327	28064065	92	15043										
NAT15	79903	genome.wustl.edu	37	chr16	3533366	3533366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tacctcttctccccaaggttCcctcttacttgaaagtttaa	4	13	3	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr16:3533366C>T	ENST00000407558.4	+	6	644	c.341C>T	c.(340-342)tCc>tTc	p.S114F	NAA60_ENST00000360862.5_Missense_Mutation_p.S49F|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.S114F|NAA60_ENST00000610180.1_Missense_Mutation_p.S114F|NAA60_ENST00000570551.1_3'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000575076.1_Missense_Mutation_p.S114F|NAA60_ENST00000424546.2_Missense_Mutation_p.S121F|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.S114F|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.S114F|NAA60_ENST00000573580.1_Missense_Mutation_p.S49F|NAA60_ENST00000608993.1_Missense_Mutation_p.S49F			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	114	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CCCCAAGGTTCCCTCTTACTT	0.493																																																	0													72	71	72					16																	3533366		1993	4165	6158	SO:0001583	missense	79903				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.341C>T	16.37:g.3533366C>T	ENSP00000385903:p.Ser114Phe		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S114F	ENST00000407558.4	37	c.341	CCDS45396.1	16	.	.	.	.	.	.	.	.	.	.	c	15.04	2.714668	0.48622	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.61671	-0.7015	10	0.87932	D	0	-7.491	18.6509	0.91430	0.0:1.0:0.0:0.0	.	121;114	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	F	121;114;114;49	ENSP00000401237:S121F;ENSP00000385903:S114F;ENSP00000393224:S114F;ENSP00000354108:S49F	ENSP00000354108:S49F	S	+	2	0	NAA60	3473367	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.403000	0.79983	2.725000	0.93324	0.552000	0.68991	TCC	NAA60	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.493	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2	C	NM_024845		3533366	1	no_errors	ENST00000407558	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3533366	C	T	3533366	3	4	102	1	0	0	0	0	1	0	0	0	10199	855	30	1	355	1	NAT15	16	3533366	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		3533366	86821387	93	15044										
NAT15	79903	genome.wustl.edu	37	chr16	3533522	3533522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctatctcccctattactactCcattcgaggggtcctcaaag	6	14	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr16:3533522C>G	ENST00000407558.4	+	6	800	c.497C>G	c.(496-498)tCc>tGc	p.S166C	NAA60_ENST00000360862.5_Missense_Mutation_p.S101C|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.S166C|NAA60_ENST00000610180.1_Missense_Mutation_p.S166C|NAA60_ENST00000570551.1_3'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000575076.1_Missense_Mutation_p.S166C|NAA60_ENST00000424546.2_Missense_Mutation_p.S173C|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.S166C|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.S166C|NAA60_ENST00000573580.1_Missense_Mutation_p.S101C|NAA60_ENST00000608993.1_Missense_Mutation_p.S101C			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	166	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TATTACTACTCCATTCGAGGG	0.478																																																	0													143	147	146					16																	3533522		2009	4174	6183	SO:0001583	missense	79903				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.497C>G	16.37:g.3533522C>G	ENSP00000385903:p.Ser166Cys		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S166C	ENST00000407558.4	37	c.497	CCDS45396.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133687	0.77662	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.55052	0.54;0.82;0.82;0.94	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.76170	2.325	0.80722	D	1	D;P	0.62365	0.991;0.926	P;P	0.52672	0.706;0.497	T	0.68697	-0.5340	10	0.51188	T	0.08	0.4878	18.6699	0.91507	0.0:1.0:0.0:0.0	.	173;166	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	C	173;166;166;101	ENSP00000401237:S173C;ENSP00000385903:S166C;ENSP00000393224:S166C;ENSP00000354108:S101C	ENSP00000354108:S101C	S	+	2	0	NAA60	3473523	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.406000	0.80017	2.733000	0.93635	0.561000	0.74099	TCC	NAA60	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.478	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2	C	NM_024845		3533522	1	no_errors	ENST00000407558	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3533522	C	G	3533522	3	3	102	1	0	0	0	0	1	0	0	0	10199	855	30	1	511	1	NAT15	16	3533522	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	156	3533522	86821231	94	15045										
PDILT	204474	genome.wustl.edu	37	chr16	20380946	20380946	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gatgggatatcgacctctgtGacccggaagtacttgaagac	12	9	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr16:20380946G>T	ENST00000302451.4	-	8	1232	c.984C>A	c.(982-984)gtC>gtA	p.V328V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	328					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGACCTCTGTGACCCGGAAGT	0.458																																																	0													174	167	170					16																	20380946		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.984C>A	16.37:g.20380946G>T			Q8IVQ5	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.V328	ENST00000302451.4	37	c.984	CCDS10584.1	16																																																																																			PDILT	-	superfamily_Thioredoxin-like_fold		0.458	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	G	NM_174924		20380946	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	silent	SNP	0.058	T	T	20380946	G	T	20380946	2	4	102	1	0	0	0	0	0	0	0	1	11698	1277	45	3		3	PDILT	16	20380946	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	16847424	20380946	69973807	95	15046										
SEPHS2	22928	genome.wustl.edu	37	chr16	30455997	30455997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cactggccttgctgacggcaGccatcttggcaattattggc	11	12	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr16:30455997G>A	ENST00000478753.2	-	1	1505	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A294V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A351V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	351					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GCTGACGGCAGCCATCTTGGC	0.478																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													85	80	82					16																	30455997		1896	4131	6027	SO:0001583	missense	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1052C>T	16.37:g.30455997G>A	ENSP00000418669:p.Ala351Val		Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.A294V	ENST00000478753.2	37	c.881		16	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169765	0.38315	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18338	2.22;2.22;2.22	5.28	3.29	0.37713	AIR synthase-related protein, C-terminal (2);	0.115652	0.56097	N	0.000022	T	0.15262	0.0368	L	0.45352	1.415	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.24006	0.05;0.008	T	0.05099	-1.0906	10	0.31617	T	0.26	-7.9343	10.3951	0.44196	0.1635:0.0:0.8365:0.0	.	351;294	Q99611;F5H8F9	SPS2_HUMAN;.	V	351;294;302;351	ENSP00000418669:A351V;ENSP00000443601:A294V;ENSP00000426234:A351V	ENSP00000390233:A302V	A	-	2	0	SEPHS2	30363498	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	5.589000	0.67523	0.718000	0.32166	0.655000	0.94253	GCT	SEPHS2	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD		0.478	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	G	NM_012248		30455997	-1	no_errors	ENST00000542752	ensembl	human	known	70_37	missense	SNP	0.997	A	A	30455997	G	A	30455997	3	1	102	1	0	0	0	0	1	0	0	0	14085	971	34	4	298	4	SEPHS2	16	30455997	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	10075051	30455997	59898756	96	15047										
PHKB	5257	genome.wustl.edu	37	chr16	47630322	47630322	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agtactattatgtgccagctGactttgtagaatatgaaaaa	8	5	0	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr16:47630322G>A	ENST00000323584.5	+	13	1267	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	PHKB_ENST00000566044.1_Missense_Mutation_p.D408N|PHKB_ENST00000299167.8_Missense_Mutation_p.D415N|PHKB_ENST00000455779.1_Missense_Mutation_p.D408N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	415					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGTGCCAGCTGACTTTGTAGA	0.343																																																	0													78	83	82					16																	47630322		2201	4300	6501	SO:0001583	missense	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1243G>A	16.37:g.47630322G>A	ENSP00000313504:p.Asp415Asn		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.D415N	ENST00000323584.5	37	c.1243	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526787	0.85706	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90133	-2.62;-2.62	5.73	5.73	0.89815	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	M	0.73372	2.23	0.80722	D	1	B;B	0.24092	0.097;0.029	B;B	0.27715	0.082;0.011	D	0.87741	0.2585	10	0.49607	T	0.09	-16.2618	19.9002	0.96983	0.0:0.0:1.0:0.0	.	415;408	Q93100;Q93100-4	KPBB_HUMAN;.	N	408;408;415	ENSP00000414345:D408N;ENSP00000313504:D415N	ENSP00000299167:D408N	D	+	1	0	PHKB	46187823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.591000	0.98241	2.709000	0.92574	0.655000	0.94253	GAC	PHKB	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.343	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	G			47630322	1	no_errors	ENST00000299167	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47630322	G	A	47630322	3	1	102	1	0	0	0	0	1	0	0	0	11869	1290	45	1	1352	1	PHKB	16	47630322	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	17174325	47630322	42724431	97	15048										
SPNS2	124976	genome.wustl.edu	37	chr17	4439674	4439674	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctgggcggcatgttcttcctCgccactgcgctcttcttcgt	10	15	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr17:4439674C>T	ENST00000329078.3	+	11	1770	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	520					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGTTCTTCCTCGCCACTGCGC	0.677																																																	0													90	75	79					17																	4439674		1568	3582	5150	SO:0001819	synonymous_variant	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1560C>T	17.37:g.4439674C>T			B9A1T3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L520	ENST00000329078.3	37	c.1560	CCDS42237.1	17																																																																																			SPNS2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.677	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4439674	1	no_errors	ENST00000329078	ensembl	human	known	70_37	silent	SNP	0.083	T	T	4439674	C	T	4439674	2	4	102	1	0	0	0	0	0	0	0	1	15105	871	31	1		1	SPNS2	17	4439674	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		4439674	76755536	98	15049										
TOP3A	7156	genome.wustl.edu	37	chr17	18181558	18181558	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tagccctgggggggccccctGaaaatctcaggtccaggatc	13	13	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr17:18181558G>A	ENST00000321105.5	-	18	2472	c.2258C>T	c.(2257-2259)tCa>tTa	p.S753L	TOP3A_ENST00000542570.1_Missense_Mutation_p.S658L|TOP3A_ENST00000540524.1_Missense_Mutation_p.S283L	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	753					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGGCCCCCTGAAAATCTCAG	0.632																																																	0													32	38	36					17																	18181558		2202	4298	6500	SO:0001583	missense	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2258C>T	17.37:g.18181558G>A	ENSP00000321636:p.Ser753Leu		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.S753L	ENST00000321105.5	37	c.2258	CCDS11194.1	17	.	.	.	.	.	.	.	.	.	.	G	6.434	0.448193	0.12223	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.11495	3.14;2.77;3.13	5.55	3.56	0.40772	.	0.389692	0.27912	N	0.017341	T	0.06462	0.0166	L	0.27053	0.805	0.21105	N	0.999788	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.39440	-0.9614	10	0.12430	T	0.62	-2.0769	7.3999	0.26958	0.1916:0.0:0.8084:0.0	.	658;753	B4DK80;Q13472	.;TOP3A_HUMAN	L	753;283;658	ENSP00000321636:S753L;ENSP00000446425:S283L;ENSP00000442336:S658L	ENSP00000321636:S753L	S	-	2	0	TOP3A	18122283	0.967000	0.33354	0.022000	0.16811	0.213000	0.24496	1.847000	0.39299	1.345000	0.45676	0.549000	0.68633	TCA	TOP3A	-	NULL		0.632	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	G			18181558	-1	no_errors	ENST00000321105	ensembl	human	known	70_37	missense	SNP	0.505	A	A	18181558	G	A	18181558	3	1	102	1	0	0	0	0	1	0	0	0	16398	1294	45	1	755	1	TOP3A	17	18181558	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	13741884	18181558	63013652	99	15050										
KRTAP4-8	728224	genome.wustl.edu	37	chr17	39254141	39254141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggacacacagcagctggggcGacagcaggtgggctggcagc	18	11	0	0	rs565841925		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr17:39254141G>A	ENST00000333822.4	-	1	252	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	66	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGCTGGGGCGACAGCAGGTG	0.657													T|||	1	0.000199681	0	0	5008	,	,		13243	0		0	False		,,,				2504	0.001																0													6	9	8					17																	39254141		631	1468	2099	SO:0001583	missense	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.196C>T	17.37:g.39254141G>A	ENSP00000328444:p.Arg66Cys		A8MSH3	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R66C	ENST00000333822.4	37	c.196	CCDS45674.1	17	.	.	.	.	.	.	.	.	.	.	.	13.51	2.258826	0.39896	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01516	4.81	3.65	-0.372	0.12520	.	2.056800	0.03377	U	0.199853	T	0.02342	0.0072	M	0.72479	2.2	0.09310	N	1	P	0.38767	0.646	B	0.25759	0.063	T	0.43507	-0.9387	10	0.59425	D	0.04	.	2.2459	0.04031	0.1018:0.1594:0.3305:0.4083	.	66	Q9BYQ9	KRA48_HUMAN	C	66	ENSP00000328444:R66C	ENSP00000414561:R66C	R	-	1	0	KRTAP4-8	36507667	0.000000	0.05858	0.001000	0.08648	0.442000	0.32017	-0.381000	0.07417	-0.316000	0.08690	0.449000	0.29647	CGC	KRTAP4-8	-	pfam_Keratin-assoc		0.657	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	HGNC	protein_coding	OTTHUMT00000257684.1	G	NM_031960		39254141	-1	no_errors	ENST00000333822	ensembl	human	known	70_37	missense	SNP	0.001	A	A	39254141	G	A	39254141	3	1	102	1	0	0	0	0	1	0	0	0	8576	1058	37	1	365	1	KRTAP4-8	17	39254141	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	21072583	39254141	41941069	100	15051										
FUT6	2528	genome.wustl.edu	37	chr19	5832556	5832556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agcgccacgaccactgtggcTtggccgggcccaggggatcc	15	15	0	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:5832556T>A	ENST00000318336.4	-	3	1217	c.23A>T	c.(22-24)aAg>aTg	p.K8M	FUT6_ENST00000527106.1_Missense_Mutation_p.K8M|FUT6_ENST00000286955.5_Missense_Mutation_p.K8M|FUT6_ENST00000592563.1_Missense_Mutation_p.K8M|FUT6_ENST00000524754.1_Missense_Mutation_p.K8M	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	8					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CCACTGTGGCTTGGCCGGGCC	0.572																																																	0													28	25	26					19																	5832556		2203	4299	6502	SO:0001583	missense	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.23A>T	19.37:g.5832556T>A	ENSP00000313398:p.Lys8Met		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.K8M	ENST00000318336.4	37	c.23	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	T	6.079	0.382911	0.11524	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165;ENST00000531085;ENST00000531199;ENST00000532464;ENST00000528505	T;T;T;T;T;T;T;T;T	0.58506	1.46;1.46;1.46;1.46;0.73;1.07;0.52;0.39;0.33	3.48	2.43	0.29744	.	2.015980	0.03014	U	0.149834	T	0.46268	0.1384	L	0.38175	1.15	0.09310	N	0.999998	P;B	0.35612	0.512;0.098	B;B	0.26094	0.066;0.066	T	0.40572	-0.9556	10	0.59425	D	0.04	.	6.6354	0.22879	0.0:0.13:0.0:0.87	.	8;8	C9J8A2;P51993	.;FUT6_HUMAN	M	8	ENSP00000431708:K8M;ENSP00000432954:K8M;ENSP00000313398:K8M;ENSP00000286955:K8M;ENSP00000436547:K8M;ENSP00000432161:K8M;ENSP00000436413:K8M;ENSP00000431880:K8M;ENSP00000433811:K8M	ENSP00000286955:K8M	K	-	2	0	FUT6	5783556	0.006000	0.16342	0.661000	0.29709	0.045000	0.14185	0.223000	0.17719	0.512000	0.28257	0.358000	0.22013	AAG	FUT6	-	NULL		0.572	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	HGNC	protein_coding	OTTHUMT00000394218.2	T	NM_000150		5832556	-1	no_errors	ENST00000592563	ensembl	human	known	70_37	missense	SNP	0.417	A	A	5832556	T	A	5832556	3	1	102	1	0	0	0	0	1	0	0	0	6126	1609	56	5	1060	5	FUT6	19	5832556	Missense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09		5832556	53296427	101	15052										
CDC37	11140	genome.wustl.edu	37	chr19	10514087	10514087	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cggaagagactggccgtgtcGatgttggggtgcgtctcgtc	17	9	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:10514087G>A	ENST00000222005.2	-	1	122	c.69C>T	c.(67-69)atC>atT	p.I23I	MIR1181_ENST00000408639.1_RNA	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	23					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TGGCCGTGTCGATGTTGGGGT	0.642																																																	0													78	61	67					19																	10514087		2203	4300	6503	SO:0001819	synonymous_variant	11140			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.69C>T	19.37:g.10514087G>A			Q53YA2	Silent	SNP	pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C	p.I23	ENST00000222005.2	37	c.69	CCDS12237.1	19																																																																																			CDC37	-	pfam_Cdc37_N_dom		0.642	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37	HGNC	protein_coding	OTTHUMT00000451987.1	G	NM_007065		10514087	-1	no_errors	ENST00000222005	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10514087	G	A	10514087	2	1	102	1	0	0	0	0	0	0	0	1	3073	1048	37	1		1	CDC37	19	10514087	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	4681531	10514087	48614896	102	15053										
ZNF440	126070	genome.wustl.edu	37	chr19	11942452	11942452	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	acaacctaaaaaagccttcaGataccgcccctcctttagaa	4	14	1	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:11942452G>C	ENST00000304060.5	+	4	625	c.461G>C	c.(460-462)aGa>aCa	p.R154T		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCCTTCAGATACCGCCCC	0.398																																																	0													133	135	134					19																	11942452		2203	4300	6503	SO:0001583	missense	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.461G>C	19.37:g.11942452G>C	ENSP00000305373:p.Arg154Thr		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R154T	ENST00000304060.5	37	c.461	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	g	0.054	-1.240489	0.01493	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.27402	1.67;2.51;2.49;5.67	0.724	-1.45	0.08828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	N	0.13327	0.33	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.23833	-1.0177	9	0.20519	T	0.43	.	5.5593	0.17133	0.2087:0.4637:0.3275:0.0	.	154	Q8IYI8	ZN440_HUMAN	T	154;32;157;156	ENSP00000305373:R154T;ENSP00000404425:R32T;ENSP00000393489:R157T;ENSP00000411974:R156T	ENSP00000305373:R154T	R	+	2	0	ZNF440	11803452	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.643000	0.00204	-2.204000	0.00743	-1.021000	0.02439	AGA	ZNF440	-	pfscan_Znf_C2H2		0.398	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	G	NM_152357		11942452	1	no_errors	ENST00000304060	ensembl	human	known	70_37	missense	SNP	0.000	C	C	11942452	G	C	11942452	3	2	102	1	0	0	0	0	1	0	0	0	17943	942	33	1	475	1	ZNF440	19	11942452	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	1428365	11942452	47186531	103	15054										
ATP13A1	57130	genome.wustl.edu	37	chr19	19756497	19756497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gccaaactggctgttgaagtCgggcgaggagccgaggagca	17	9	0	1	rs563912098		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:19756497C>T	ENST00000357324.6	-	25	3489	c.3463G>A	c.(3463-3465)Gac>Aac	p.D1155N	GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000203556.4_5'Flank|GMIP_ENST00000445806.2_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.D1037N	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1155						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGTTGAAGTCGGGCGAGGAG	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16137	0		0	False		,,,				2504	0				Esophageal Squamous(142;920 1789 9047 14684 24777)												0													28	26	26					19																	19756497		2192	4288	6480	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3463G>A	19.37:g.19756497C>T	ENSP00000349877:p.Asp1155Asn		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.D1155N	ENST00000357324.6	37	c.3463	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259666	0.80246	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.54675	0.56;0.56	5.49	5.49	0.81192	.	0.092996	0.64402	D	0.000001	T	0.45856	0.1363	L	0.55990	1.75	0.53005	D	0.999969	P;B	0.36222	0.544;0.33	B;B	0.27796	0.038;0.083	T	0.41538	-0.9503	10	0.26408	T	0.33	-21.1338	16.8584	0.86011	0.0:1.0:0.0:0.0	.	1155;1037	Q9HD20;Q9HD20-2	AT131_HUMAN;.	N	1037;1155	ENSP00000291503:D1037N;ENSP00000349877:D1155N	ENSP00000291503:D1037N	D	-	1	0	ATP13A1	19617497	1.000000	0.71417	0.963000	0.40424	0.927000	0.56198	7.354000	0.79424	2.582000	0.87167	0.561000	0.74099	GAC	ATP13A1	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.632	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	C	NM_020410		19756497	-1	no_errors	ENST00000357324	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19756497	C	T	19756497	3	4	102	1	0	0	0	0	1	0	0	0	1124	884	31	1	159	1	ATP13A1	19	19756497	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	7814045	19756497	39372486	104	15055										
GRIK5	2901	genome.wustl.edu	37	chr19	42569373	42569373	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	acgcccccatggccccgctcActggtgtccgtggtctcgta	11	17	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:42569373A>G	ENST00000262895.3	-	2	244		c.e2+1		GRIK5_ENST00000593562.1_Splice_Site|GRIK5_ENST00000301218.4_Splice_Site	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5						cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGCCCCGCTCACTGGTGTCCG	0.647																																																	0													67	62	63					19																	42569373		2203	4300	6503	SO:0001630	splice_region_variant	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.244+1T>C	19.37:g.42569373A>G			Q8WWG8	Splice_Site	SNP	-	e2+2	ENST00000262895.3	37	c.244+2	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	a	21.6	4.179474	0.78564	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2852	0.60239	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK5	47261213	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.217000	0.89766	1.968000	0.57251	0.515000	0.50301	.	GRIK5	-	-		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	A		Intron	42569373	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	42569373	A	G	42569373	5	3	102	1	0	0	0	0	0	0	1	0	6797	173	6	5	2768	5	GRIK5	19	42569373	Splice_Site	SNP	A	TCGA-EK-A2R7-01A-11D-A18J-09	22812876	42569373	16559610	105	15056										
MEGF8	1954	genome.wustl.edu	37	chr19	42880215	42880215	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cgagcaccatgccctcaagtCgagccgcttctacctgctgc	9	17	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:42880215C>G	ENST00000251268.6	+	42	7826	c.7826C>G	c.(7825-7827)tCg>tGg	p.S2609W	MEGF8_ENST00000334370.4_Missense_Mutation_p.S2542W|MEGF8_ENST00000378073.4_Missense_Mutation_p.S203W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2609					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCCTCAAGTCGAGCCGCTTC	0.687																																																	0													51	51	51					19																	42880215		2203	4298	6501	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7826C>G	19.37:g.42880215C>G	ENSP00000251268:p.Ser2609Trp		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.S2609W	ENST00000251268.6	37	c.7826		19	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336971	0.81801	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.23950	1.88;1.88	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000002	T	0.46444	0.1393	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.984;0.983;0.995	T	0.45906	-0.9229	10	0.87932	D	0	-27.615	17.029	0.86456	0.0:1.0:0.0:0.0	.	203;2609;2542	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	W	2542;2609;203	ENSP00000334219:S2542W;ENSP00000251268:S2609W	ENSP00000251268:S2609W	S	+	2	0	MEGF8	47572055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.035000	0.76517	2.395000	0.81488	0.561000	0.74099	TCG	MEGF8	-	NULL		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42880215	1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42880215	C	G	42880215	3	3	102	1	0	0	0	0	1	0	0	0	9486	893	31	1	7787	1	MEGF8	19	42880215	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	310842	42880215	16248768	106	15057										
RSPH6A	81492	genome.wustl.edu	37	chr19	46313965	46313965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggtgggctgcatctcggggtCgtcccgcagcgtgtccagct	16	13	1	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:46313965C>T	ENST00000221538.3	-	2	926	c.784G>A	c.(784-786)Gac>Aac	p.D262N	RSPH6A_ENST00000600188.1_5'UTR|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D262N	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	262						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ATCTCGGGGTCGTCCCGCAGC	0.632																																																	0													95	80	85					19																	46313965		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.784G>A	19.37:g.46313965C>T	ENSP00000221538:p.Asp262Asn		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.D262N	ENST00000221538.3	37	c.784	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560895	0.45590	.	.	ENSG00000104941	ENST00000221538	T	0.16897	2.31	4.82	4.82	0.62117	.	0.574735	0.19810	N	0.105554	T	0.29914	0.0748	M	0.61703	1.905	0.35067	D	0.762127	D	0.57571	0.98	P	0.51999	0.687	T	0.26950	-1.0088	10	0.36615	T	0.2	0.4844	15.8574	0.78989	0.0:1.0:0.0:0.0	.	262	Q9H0K4	RSH6A_HUMAN	N	262	ENSP00000221538:D262N	ENSP00000221538:D262N	D	-	1	0	RSPH6A	51005805	0.951000	0.32395	0.996000	0.52242	0.777000	0.43975	2.883000	0.48554	2.689000	0.91719	0.650000	0.86243	GAC	RSPH6A	-	pfam_Radial_spoke		0.632	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	C			46313965	-1	no_errors	ENST00000221538	ensembl	human	known	70_37	missense	SNP	0.995	T	T	46313965	C	T	46313965	3	4	102	1	0	0	0	0	1	0	0	0	13737	884	31	1	1389	1	RSPH6A	19	46313965	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	3433750	46313965	12815018	107	15058										
ZNF611	81856	genome.wustl.edu	37	chr19	53208777	53208777	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cttttcacattcatcacattTgtaaggttgctccccagtat	5	11	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:53208777T>A	ENST00000319783.1	-	7	1847	c.1531A>T	c.(1531-1533)Aaa>Taa	p.K511*	ZNF611_ENST00000543227.1_Nonsense_Mutation_p.K511*|ZNF611_ENST00000453741.2_Nonsense_Mutation_p.K442*|ZNF611_ENST00000595798.1_Nonsense_Mutation_p.K442*|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Nonsense_Mutation_p.K511*|ZNF611_ENST00000602162.1_Nonsense_Mutation_p.K442*	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCATCACATTTGTAAGGTTGC	0.358																																																	0													105	106	105					19																	53208777		2203	4300	6503	SO:0001587	stop_gained	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1531A>T	19.37:g.53208777T>A	ENSP00000322427:p.Lys511*		B3KRD5|Q69YG9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K511*	ENST00000319783.1	37	c.1531	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	26.8	4.772464	0.90108	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	.	.	.	1.51	0.422	0.16457	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2452	0.04030	0.2519:0.1839:0.0:0.5642	.	.	.	.	X	511;511;442;511	.	ENSP00000322427:K511X	K	-	1	0	ZNF611	57900589	0.000000	0.05858	0.038000	0.18304	0.013000	0.08279	-2.577000	0.00909	0.661000	0.30985	0.172000	0.16884	AAA	ZNF611	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	T	NM_030972		53208777	-1	no_errors	ENST00000319783	ensembl	human	known	70_37	nonsense	SNP	0.010	A	A	53208777	T	A	53208777	4	1	102	1	0	0	0	0	0	1	0	0	18067	1821	63	5	590	5	ZNF611	19	53208777	Nonsense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09	6894812	53208777	5920206	108	15059										
ZNF813	126017	genome.wustl.edu	37	chr19	53993829	53993829	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gccatgaagcacccatgacaGaaatcaaaaagttgactggt	9	9	1	4			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:53993829G>A	ENST00000396403.4	+	4	471	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACCCATGACAGAAATCAAAAA	0.393																																																	0													147	151	149					19																	53993829		2203	4300	6503	SO:0001583	missense	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.343G>A	19.37:g.53993829G>A	ENSP00000379684:p.Glu115Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E115K	ENST00000396403.4	37	c.343	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.968540	0.00457	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05513	4.18;3.43;5.05	0.467	-0.934	0.10428	.	.	.	.	.	T	0.01835	0.0058	N	0.02830	-0.485	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42085	-0.9472	8	0.09338	T	0.73	.	.	.	.	.	115	Q6ZN06	ZN813_HUMAN	K	62;115;146	ENSP00000419821:E62K;ENSP00000379684:E115K;ENSP00000418289:E146K	ENSP00000379684:E115K	E	+	1	0	ZNF813	58685641	.	.	0.002000	0.10522	0.027000	0.11550	.	.	-1.779000	0.01280	-1.021000	0.02439	GAA	ZNF813	-	NULL		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	G	NM_001004301		53993829	1	no_errors	ENST00000396403	ensembl	human	known	70_37	missense	SNP	0.002	A	A	53993829	G	A	53993829	3	1	102	1	0	0	0	0	1	0	0	0	18205	943	33	1	353	1	ZNF813	19	53993829	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	785052	53993829	5135154	109	15060										
ZNF773	374928	genome.wustl.edu	37	chr19	58016764	58016764	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gttgtgacttcagccatactGagaggtacttggtgggtgga	15	6	1	2	rs567946429		TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:58016764G>T	ENST00000282292.4	+	3	398	c.258G>T	c.(256-258)ctG>ctT	p.L86L	ZNF773_ENST00000598770.1_Silent_p.L85L|ZNF773_ENST00000593916.1_Silent_p.L85L|ZNF773_ENST00000599847.1_Silent_p.L86L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGCCATACTGAGAGGTACTT	0.502																																																	0													133	125	128					19																	58016764		2203	4300	6503	SO:0001819	synonymous_variant	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.258G>T	19.37:g.58016764G>T			Q96DL8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L86	ENST00000282292.4	37	c.258	CCDS33134.1	19																																																																																			ZNF773	-	pfscan_Krueppel-associated_box		0.502	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58016764	1	no_errors	ENST00000282292	ensembl	human	known	70_37	silent	SNP	0.000	T	T	58016764	G	T	58016764	2	4	102	1	0	0	0	0	0	0	0	1	18176	1277	45	3		3	ZNF773	19	58016764	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	4022935	58016764	1112219	110	15061										
ZSCAN4	201516	genome.wustl.edu	37	chr19	58187558	58187558	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tttcagtgtgaaccatccgaGaataatcttggatcagaaaa	8	7	3	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr19:58187558G>A	ENST00000318203.5	+	3	742	c.45G>A	c.(43-45)gaG>gaA	p.E15E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	15					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACCATCCGAGAATAATCTTG	0.388																																																	0													63	62	62					19																	58187558		2203	4300	6503	SO:0001819	synonymous_variant	201516			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.45G>A	19.37:g.58187558G>A			Q3MIQ2	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E15	ENST00000318203.5	37	c.45	CCDS12958.1	19																																																																																			ZSCAN4	-	NULL		0.388	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN4	HGNC	protein_coding	OTTHUMT00000466812.1	G	NM_152677		58187558	1	no_errors	ENST00000318203	ensembl	human	known	70_37	silent	SNP	0.000	A	A	58187558	G	A	58187558	2	1	102	1	0	0	0	0	0	0	0	1	18267	933	33	1		1	ZSCAN4	19	58187558	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	170794	58187558	941425	111	15062										
FASTKD5	60493	genome.wustl.edu	37	chr20	3129658	3129658	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttcggactgcaccaaaggcaGaaggactgcaaaatgctcgg	12	10	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr20:3129658G>A	ENST00000380266.3	-	2	380	c.59C>T	c.(58-60)tCt>tTt	p.S20F	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	20					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACCAAAGGCAGAAGGACTGCA	0.483																																																	0													106	100	102					20																	3129658		2203	4300	6503	SO:0001583	missense	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.59C>T	20.37:g.3129658G>A	ENSP00000369618:p.Ser20Phe		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.S20F	ENST00000380266.3	37	c.59	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	G	7.205	0.594169	0.13875	.	.	ENSG00000215251	ENST00000380266	T	0.14144	2.53	5.0	-1.54	0.08584	.	2.549880	0.01630	N	0.023477	T	0.08846	0.0219	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	10	0.56958	D	0.05	.	11.3914	0.49817	0.3875:0.0:0.6125:0.0	.	20	Q7L8L6	FAKD5_HUMAN	F	20	ENSP00000369618:S20F	ENSP00000369618:S20F	S	-	2	0	FASTKD5	3077658	0.989000	0.36119	0.018000	0.16275	0.035000	0.12851	1.362000	0.34148	-0.431000	0.07307	-0.672000	0.03802	TCT	FASTKD5	-	NULL		0.483	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	G	NM_021826		3129658	-1	no_errors	ENST00000380266	ensembl	human	known	70_37	missense	SNP	0.028	A	A	3129658	G	A	3129658	3	1	102	1	0	0	0	0	1	0	0	0	5706	942	33	1	2239	1	FASTKD5	20	3129658	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09		3129658	59895862	112	15063										
NFATC2	4773	genome.wustl.edu	37	chr20	50139798	50139798	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggcagacaccggcgaggggtCagggctggtcttccacatct	15	12	3	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr20:50139798C>T	ENST00000396009.3	-	2	1201	c.982G>A	c.(982-984)Gac>Aac	p.D328N	NFATC2_ENST00000609507.1_Missense_Mutation_p.D109N|NFATC2_ENST00000414705.1_Missense_Mutation_p.D308N|NFATC2_ENST00000610033.1_Missense_Mutation_p.D109N|NFATC2_ENST00000609943.1_Missense_Mutation_p.D308N|NFATC2_ENST00000371564.3_Missense_Mutation_p.D328N	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	328					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCGAGGGGTCAGGGCTGGTC	0.692																																																	0													24	32	29					20																	50139798		2201	4290	6491	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.982G>A	20.37:g.50139798C>T	ENSP00000379330:p.Asp328Asn		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.D328N	ENST00000396009.3	37	c.982	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542966	0.65198	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.20598	2.06;2.06;2.08	5.67	5.67	0.87782	.	0.173594	0.52532	D	0.000068	T	0.46814	0.1412	M	0.70595	2.14	0.37774	D	0.926795	D;D;B;D	0.69078	0.984;0.997;0.381;0.984	P;P;B;P	0.62885	0.53;0.908;0.126;0.724	T	0.50833	-0.8781	10	0.87932	D	0	-28.4676	19.7746	0.96386	0.0:1.0:0.0:0.0	.	308;308;328;328	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	N	328;328;109;308	ENSP00000360619:D328N;ENSP00000379330:D328N;ENSP00000396471:D308N	ENSP00000360619:D328N	D	-	1	0	NFATC2	49573205	1.000000	0.71417	0.522000	0.27862	0.514000	0.34195	5.925000	0.70062	2.680000	0.91292	0.305000	0.20034	GAC	NFATC2	-	NULL		0.692	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	C	NM_012340		50139798	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	0.992	T	T	50139798	C	T	50139798	3	4	102	1	0	0	0	0	1	0	0	0	10386	826	29	1	1879	1	NFATC2	20	50139798	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	47010140	50139798	12885722	113	15064										
ARFGAP1	55738	genome.wustl.edu	37	chr20	61919221	61919221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tggctgggacaaccagaactGgtagggcccactgcgccccc	13	15	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr20:61919221G>C	ENST00000370283.4	+	13	1357	c.1217G>C	c.(1216-1218)tGg>tCg	p.W406S	ARFGAP1_ENST00000519604.1_Missense_Mutation_p.W361S|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.W293S|ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.W340S|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.W414S	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	406					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AACCAGAACTGGTAGGGCCCA	0.657																																																	0													6	6	6					20																	61919221		2111	4188	6299	SO:0001583	missense	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.1217G>C	20.37:g.61919221G>C	ENSP00000359306:p.Trp406Ser		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.W414S	ENST00000370283.4	37	c.1241	CCDS13515.1	20	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243697	0.79912	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T	0.69926	0.49;-0.2;-0.05;-0.44;0.61	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.998;0.998;0.999	T	0.79042	-0.1965	10	0.87932	D	0	.	17.657	0.88180	0.0:0.0:1.0:0.0	.	293;361;406;414	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	S	406;340;361;293;414	ENSP00000359306:W406S;ENSP00000449800:W340S;ENSP00000430500:W361S;ENSP00000443716:W293S;ENSP00000314615:W414S	ENSP00000314615:W414S	W	+	2	0	ARFGAP1	61389666	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.549000	0.82163	2.329000	0.79093	0.448000	0.29417	TGG	ARFGAP1	-	NULL		0.657	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	G	NM_018209		61919221	1	no_errors	ENST00000353546	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61919221	G	C	61919221	3	2	102	1	0	0	0	0	1	0	0	0	849	1357	47	4	1297	4	ARFGAP1	20	61919221	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	11779423	61919221	1106299	114	15065										
PTK6	5753	genome.wustl.edu	37	chr20	62163883	62163883	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggcccatgccactcaccgcgGagcagctccagcaggctgcc	12	18	1	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr20:62163883G>A	ENST00000217185.2	-	5	855	c.828C>T	c.(826-828)ctC>ctT	p.L276L	PTK6_ENST00000542869.1_Silent_p.L175L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	ACTCACCGCGGAGCAGCTCCA	0.652																																																	0													64	58	60					20																	62163883		2203	4300	6503	SO:0001819	synonymous_variant	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.828C>T	20.37:g.62163883G>A			B2RCR3|B4DW46|Q58F01	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L276	ENST00000217185.2	37	c.828	CCDS13524.1	20																																																																																			PTK6	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.652	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK6	HGNC	protein_coding	OTTHUMT00000080313.1	G			62163883	-1	no_errors	ENST00000217185	ensembl	human	known	70_37	silent	SNP	0.971	A	A	62163883	G	A	62163883	2	1	102	1	0	0	0	0	0	0	0	1	12792	1161	41	1		1	PTK6	20	62163883	Silent	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	244662	62163883	861637	115	15066										
UCKL1	54963	genome.wustl.edu	37	chr20	62572366	62572366	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	atcagtctcttggagtagaaGatgaactcgtcgcgactggt	12	8	2	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr20:62572366G>C	ENST00000354216.6	-	10	1095	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	UCKL1_ENST00000369892.3_Missense_Mutation_p.I351M|MIR647_ENST00000384823.1_RNA|MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000358711.3_Missense_Mutation_p.L368V|UCKL1_ENST00000369908.5_Missense_Mutation_p.I336M	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	351					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGAGTAGAAGATGAACTCGT	0.662																																																	0													52	46	48					20																	62572366		2194	4299	6493	SO:0001583	missense	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1053C>G	20.37:g.62572366G>C	ENSP00000346155:p.Ile351Met		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.I351M	ENST00000354216.6	37	c.1053	CCDS13547.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.121179|4.121179	0.77436|0.77436	.|.	.|.	ENSG00000198276|ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908;ENST00000430743|ENST00000358711	.|.	.|.	.|.	5.27|5.27	0.855|0.855	0.19013|0.19013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58061|0.58061	0.2096|0.2096	M|M	0.84511|0.84511	2.7|2.7	0.21105|0.21105	N|N	0.999782|0.999782	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.71414|.	0.973;0.923|.	T|T	0.52961|0.52961	-0.8505|-0.8505	9|6	0.87932|0.87932	D|D	0|0	-36.3999|-36.3999	6.0565|6.0565	0.19815|0.19815	0.2885:0.0:0.5831:0.1284|0.2885:0.0:0.5831:0.1284	.|.	336;351|.	B7Z8N2;Q9NWZ5|.	.;UCKL1_HUMAN|.	M|V	351;351;336;16|368	.|.	ENSP00000346155:I351M|ENSP00000351546:L368V	I|L	-|-	3|1	3|0	UCKL1|UCKL1	62042810|62042810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.066000|1.066000	0.30604|0.30604	0.588000|0.588000	0.29660|0.29660	0.555000|0.555000	0.69702|0.69702	ATC|CTT	UCKL1	-	NULL		0.662	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	G	NM_017859		62572366	-1	no_errors	ENST00000354216	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62572366	G	C	62572366	3	2	102	1	0	0	0	0	1	0	0	0	16956	932	33	1	617	1	UCKL1	20	62572366	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	408483	62572366	453154	116	15067										
SON	6651	genome.wustl.edu	37	chr21	34922769	34922769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gttacctgggccctctgctaCcccggtgccagagttgccag	12	15	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr21:34922769C>G	ENST00000356577.4	+	3	1707	c.1232C>G	c.(1231-1233)aCc>aGc	p.T411S	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.T411S|SON_ENST00000290239.6_Missense_Mutation_p.T411S|SON_ENST00000300278.4_Missense_Mutation_p.T411S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	411					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCCTCTGCTACCCCGGTGCCA	0.672																																																	0													37	43	41					21																	34922769		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1232C>G	21.37:g.34922769C>G	ENSP00000348984:p.Thr411Ser		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.T411S	ENST00000356577.4	37	c.1232	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691687	0.68271	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.16597	2.47;2.51;2.52;2.33	5.44	4.56	0.56223	.	0.103138	0.43747	N	0.000533	T	0.29158	0.0725	L	0.32530	0.975	0.24345	N	0.99494	D;D;D	0.67145	0.994;0.996;0.99	D;D;D	0.77557	0.977;0.99;0.987	T	0.04796	-1.0926	10	0.51188	T	0.08	.	12.2956	0.54844	0.0:0.9168:0.0:0.0832	.	411;411;411	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	S	411	ENSP00000348984:T411S;ENSP00000290239:T411S;ENSP00000300278:T411S;ENSP00000371095:T411S	ENSP00000290239:T411S	T	+	2	0	SON	33844639	0.001000	0.12720	0.999000	0.59377	0.944000	0.59088	1.144000	0.31565	1.443000	0.47586	0.491000	0.48974	ACC	SON	-	NULL		0.672	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	C	NM_138927		34922769	1	no_errors	ENST00000356577	ensembl	human	known	70_37	missense	SNP	0.862	G	G	34922769	C	G	34922769	3	3	102	1	0	0	0	0	1	0	0	0	14956	507	18	4	1242	4	SON	21	34922769	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		34922769	13207126	117	15068										
KCNJ6	3763	genome.wustl.edu	37	chr21	39086857	39086857	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tgggtggaaaagaccagggtCtctgccctcttcttgggttg	14	9	3	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr21:39086857C>T	ENST00000609713.1	-	3	1192	c.603G>A	c.(601-603)gaG>gaA	p.E201E	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.E201E	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	201					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACCAGGGTCTCTGCCCTCT	0.483																																					Pancreas(48;379 1118 2936 19024 28214)												0													56	55	56					21																	39086857		1936	4162	6098	SO:0001819	synonymous_variant	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.603G>A	21.37:g.39086857C>T			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.E201	ENST00000609713.1	37	c.603	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.483	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39086857	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39086857	C	T	39086857	2	4	102	1	0	0	0	0	0	0	0	1	8075	912	32	1		1	KCNJ6	21	39086857	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	4164088	39086857	9043038	118	15069										
SLC37A1	54020	genome.wustl.edu	37	chr21	43959704	43959704	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gagccttcaccgccctgttcGgcttagggtatttctacaac	9	13	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr21:43959704G>C	ENST00000352133.2	+	6	1415	c.433G>C	c.(433-435)Ggc>Cgc	p.G145R	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G145R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	145					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CGCCCTGTTCGGCTTAGGGTA	0.537																																																	0													116	99	104					21																	43959704		2203	4300	6503	SO:0001583	missense	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.433G>C	21.37:g.43959704G>C	ENSP00000344648:p.Gly145Arg		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G145R	ENST00000352133.2	37	c.433	CCDS13689.1	21	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978802	0.74360	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.62232	0.04;0.04	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89885	0.4033	10	0.87932	D	0	-14.285	17.8856	0.88852	0.0:0.0:1.0:0.0	.	145	P57057	GLPT_HUMAN	R	145	ENSP00000381383:G145R;ENSP00000344648:G145R	ENSP00000344648:G145R	G	+	1	0	SLC37A1	42832773	1.000000	0.71417	0.910000	0.35882	0.410000	0.31052	9.496000	0.97967	2.223000	0.72356	0.555000	0.69702	GGC	SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.537	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	G			43959704	1	no_errors	ENST00000352133	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43959704	G	C	43959704	3	2	102	1	0	0	0	0	1	0	0	0	14627	1116	39	2	451	2	SLC37A1	21	43959704	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	4872847	43959704	4170191	119	15070										
C21orf58	54058	genome.wustl.edu	37	chr21	47735421	47735421	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	agaaggtccctccttctcttCagagcagtctgcagggcatc	10	13	3	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr21:47735421C>T	ENST00000291691.7	-	4	1547	c.411G>A	c.(409-411)ctG>ctA	p.L137L	C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397685.4_Silent_p.L54L|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	137										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		TCCTTCTCTTCAGAGCAGTCT	0.587																																																	0													119	88	98					21																	47735421		2203	4300	6503	SO:0001819	synonymous_variant	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.411G>A	21.37:g.47735421C>T			B3KPI1	Silent	SNP	NULL	p.L137	ENST00000291691.7	37	c.411	CCDS13735.1	21																																																																																			C21orf58	-	NULL		0.587	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	HGNC	protein_coding	OTTHUMT00000207283.1	C	NM_058180		47735421	-1	no_errors	ENST00000291691	ensembl	human	known	70_37	silent	SNP	0.994	T	T	47735421	C	T	47735421	2	4	102	1	0	0	0	0	0	0	0	1	2134	813	29	1		1	C21orf58	21	47735421	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	3775717	47735421	394474	120	15071										
PCNT	5116	genome.wustl.edu	37	chr21	47783729	47783729	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gctggaacaggacctcacttCagacgacgccctgcattgca	10	14	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr21:47783729C>A	ENST00000359568.5	+	14	2596	c.2489C>A	c.(2488-2490)tCa>tAa	p.S830*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	830					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GACCTCACTTCAGACGACGCC	0.657																																																	0													70	79	76					21																	47783729		2203	4300	6503	SO:0001587	stop_gained	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2489C>A	21.37:g.47783729C>A	ENSP00000352572:p.Ser830*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.S830*	ENST00000359568.5	37	c.2489	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	37	6.386539	0.97524	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.11	0.0344	0.14183	.	1.257680	0.06158	N	0.675524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	2.2276	0.03988	0.1276:0.257:0.387:0.2283	.	.	.	.	X	830	.	ENSP00000352572:S830X	S	+	2	0	PCNT	46608157	0.006000	0.16342	0.011000	0.14972	0.000000	0.00434	0.446000	0.21694	0.181000	0.19994	-0.218000	0.12543	TCA	PCNT	-	NULL		0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	C	NM_006031		47783729	1	no_errors	ENST00000359568	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	47783729	C	A	47783729	4	1	102	1	0	0	0	0	0	1	0	0	11614	838	29	3	2543	3	PCNT	21	47783729	Nonsense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	48308	47783729	346166	121	15072										
VPREB1	7441	genome.wustl.edu	37	chr22	22599619	22599619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cagggggtatttgagcatctCtgagctgcagcctgaggacg	15	9	1	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr22:22599619C>G	ENST00000403807.3	+	2	447	c.308C>G	c.(307-309)tCt>tGt	p.S103C	VPREB1_ENST00000302273.2_Missense_Mutation_p.S102C			P12018	VPREB_HUMAN	pre-B lymphocyte 1	103	Framework-3.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGCATCTCTGAGCTGCAG	0.562																																																	0													33	37	36					22																	22599619		2202	4300	6502	SO:0001583	missense	7441			M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.308C>G	22.37:g.22599619C>G	ENSP00000385361:p.Ser103Cys		B5MCG2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S103C	ENST00000403807.3	37	c.308	CCDS13798.1	22	.	.	.	.	.	.	.	.	.	.	c	15.34	2.803750	0.50315	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.68624	-0.34;-0.34	3.91	2.79	0.32731	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.326955	0.22603	N	0.057939	D	0.83903	0.5355	H	0.96301	3.8	0.24516	N	0.994182	D	0.57257	0.979	P	0.62740	0.906	T	0.75127	-0.3427	10	0.87932	D	0	.	9.6346	0.39800	0.0:0.6605:0.3395:0.0	.	103	P12018	VPREB_HUMAN	C	103;102	ENSP00000385361:S103C;ENSP00000304590:S102C	ENSP00000304590:S102C	S	+	2	0	VPREB1	20929619	0.005000	0.15991	0.724000	0.30704	0.011000	0.07611	1.487000	0.35540	2.204000	0.70986	0.650000	0.86243	TCT	VPREB1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.562	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPREB1	HGNC	protein_coding	OTTHUMT00000321101.1	C			22599619	1	no_errors	ENST00000403807	ensembl	human	known	70_37	missense	SNP	0.641	G	G	22599619	C	G	22599619	3	3	102	1	0	0	0	0	1	0	0	0	17217	913	32	1	314	1	VPREB1	22	22599619	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09		22599619	28704947	122	15073										
MTMR3	8897	genome.wustl.edu	37	chr22	30415483	30415483	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctttaggctaccaaagactaGatcatacgacaatctgacca	6	11	2	3			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr22:30415483G>C	ENST00000401950.2	+	17	2177	c.1835G>C	c.(1834-1836)aGa>aCa	p.R612T	MTMR3_ENST00000351488.3_Missense_Mutation_p.R612T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.R476T|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.R612T|MTMR3_ENST00000406629.1_Missense_Mutation_p.R612T	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	612					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCAAAGACTAGATCATACGAC	0.502																																																	0													56	58	58					22																	30415483		2203	4300	6503	SO:0001583	missense	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1835G>C	22.37:g.30415483G>C	ENSP00000384651:p.Arg612Thr		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R612T	ENST00000401950.2	37	c.1835	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388263	0.82902	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.95342	-3.48;-3.45;-3.68;-3.51;-3.45	5.75	5.75	0.90469	.	0.054754	0.64402	D	0.000001	D	0.97383	0.9144	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.98;0.999	D	0.97702	1.0185	10	0.87932	D	0	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	612;612;612	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	T	612;612;476;612;612	ENSP00000384651:R612T;ENSP00000331649:R612T;ENSP00000318070:R476T;ENSP00000307271:R612T;ENSP00000384077:R612T	ENSP00000318070:R476T	R	+	2	0	MTMR3	28745483	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.238000	0.95380	2.716000	0.92895	0.655000	0.94253	AGA	MTMR3	-	NULL		0.502	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	G	NM_021090		30415483	1	no_errors	ENST00000401950	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30415483	G	C	30415483	3	2	102	1	0	0	0	0	1	0	0	0	9968	942	33	1	1893	1	MTMR3	22	30415483	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	7815864	30415483	20889083	123	15074										
TCN2	6948	genome.wustl.edu	37	chr22	31006924	31006924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	cctcttaccttggatggaccGgctttccctggagcacttga	10	13	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr22:31006924G>A	ENST00000215838.3	+	2	625	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	TCN2_ENST00000405742.3_Missense_Mutation_p.R44Q|TCN2_ENST00000407817.3_Missense_Mutation_p.R44Q			P20062	TCO2_HUMAN	transcobalamin II	44					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGATGGACCGGCTTTCCCTG	0.527																																																	0													175	165	168					22																	31006924		2203	4300	6503	SO:0001583	missense	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.131G>A	22.37:g.31006924G>A	ENSP00000215838:p.Arg44Gln		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.R44Q	ENST00000215838.3	37	c.131	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898393	0.33535	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.35421	1.32;1.32;1.32;1.31	6.16	-12.3	0.00002	.	2.265590	0.01230	N	0.008324	T	0.18045	0.0433	L	0.41824	1.3	0.19945	N	0.999944	B;B;B	0.32604	0.233;0.377;0.377	B;B;B	0.17722	0.019;0.011;0.011	T	0.02505	-1.1149	10	0.11182	T	0.66	-0.0542	6.889	0.24218	0.1445:0.0715:0.5409:0.2431	.	44;44;44	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	Q	44	ENSP00000215838:R44Q;ENSP00000411529:R44Q;ENSP00000385914:R44Q;ENSP00000384914:R44Q	ENSP00000215838:R44Q	R	+	2	0	TCN2	29336924	0.000000	0.05858	0.007000	0.13788	0.731000	0.41821	-1.149000	0.03182	-2.750000	0.00375	-1.316000	0.01300	CGG	TCN2	-	pfam_Cbl-bd_transpt_euk		0.527	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	G	NM_000355		31006924	1	no_errors	ENST00000215838	ensembl	human	known	70_37	missense	SNP	0.000	A	A	31006924	G	A	31006924	3	1	102	1	0	0	0	0	1	0	0	0	15737	1116	39	2	137	2	TCN2	22	31006924	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	591441	31006924	20297642	124	15075										
MKL1	57591	genome.wustl.edu	37	chr22	40816412	40816412	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ttccagtggccatgtaccttCatgtcgtccaggttggccgg	12	12	1	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr22:40816412C>T	ENST00000355630.3	-	11	1640	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	MKL1_ENST00000407029.1_Missense_Mutation_p.M350I|MKL1_ENST00000402042.1_Missense_Mutation_p.M300I|MKL1_ENST00000396617.3_Missense_Mutation_p.M350I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	350	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CATGTACCTTCATGTCGTCCA	0.652			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													46	48	47					22																	40816412		2203	4299	6502	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1050G>A	22.37:g.40816412C>T	ENSP00000347847:p.Met350Ile		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.M350I	ENST00000355630.3	37	c.1050	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490398	0.84962	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.50813	0.76;0.73;0.78;0.76	4.98	4.98	0.66077	DNA-binding SAP (4);	0.185534	0.56097	D	0.000021	T	0.73353	0.3576	M	0.86953	2.85	0.54753	D	0.999984	D;D;D	0.54964	0.959;0.969;0.969	P;D;D	0.70227	0.626;0.968;0.968	T	0.77680	-0.2497	10	0.59425	D	0.04	-37.6929	18.4514	0.90704	0.0:1.0:0.0:0.0	.	300;350;350	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	I	350;350;300;350	ENSP00000347847:M350I;ENSP00000379861:M350I;ENSP00000385584:M300I;ENSP00000385835:M350I	ENSP00000347847:M350I	M	-	3	0	MKL1	39146358	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.103000	0.50298	2.598000	0.87819	0.561000	0.74099	ATG	MKL1	-	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd		0.652	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	C	NM_020831		40816412	-1	no_errors	ENST00000355630	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40816412	C	T	40816412	3	4	102	1	0	0	0	0	1	0	0	0	9624	826	29	1	1765	1	MKL1	22	40816412	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	9809488	40816412	10488154	125	15076										
SCUBE1	80274	genome.wustl.edu	37	chr22	43608440	43608440	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggcatgctcacctttagcctCgcagtcctggaaggaggtgg	14	11	1	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chr22:43608440C>A	ENST00000360835.4	-	17	2338	c.2212G>T	c.(2212-2214)Gag>Tag	p.E738*	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	738					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTTTAGCCTCGCAGTCCTGG	0.677																																																	0													78	61	67					22																	43608440		2124	4147	6271	SO:0001587	stop_gained	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2212G>T	22.37:g.43608440C>A	ENSP00000354080:p.Glu738*		Q5R336	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E738*	ENST00000360835.4	37	c.2212	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	38	7.158647	0.98103	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	16.93	0.86188	0.0:1.0:0.0:0.0	.	.	.	.	X	738;368	.	ENSP00000354080:E738X	E	-	1	0	SCUBE1	41938384	1.000000	0.71417	0.819000	0.32651	0.197000	0.23852	7.204000	0.77872	2.286000	0.76751	0.655000	0.94253	GAG	SCUBE1	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	C	NM_173050		43608440	-1	no_errors	ENST00000360835	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	43608440	C	A	43608440	4	1	102	1	0	0	0	0	0	1	0	0	13974	893	31	3	778	3	SCUBE1	22	43608440	Nonsense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	2792028	43608440	7696126	126	15077										
FANCB	2187	genome.wustl.edu	37	chrX	14863270	14863270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	accctttttgcttccaatccTatttcacatggcatcaagta	4	12	2	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:14863270T>C	ENST00000324138.3	-	7	1788	c.1635A>G	c.(1633-1635)atA>atG	p.I545M	FANCB_ENST00000398334.1_Missense_Mutation_p.I545M	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	545					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CTTCCAATCCTATTTCACATG	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													99	91	93					X																	14863270		2203	4300	6503	SO:0001583	missense	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1635A>G	X.37:g.14863270T>C	ENSP00000326819:p.Ile545Met		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.I545M	ENST00000324138.3	37	c.1635	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	T	3.835	-0.035059	0.07543	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.36	2.83	0.33086	.	0.941646	0.09056	N	0.855082	T	0.25082	0.0609	L	0.29908	0.895	0.09310	N	1	B	0.33512	0.415	B	0.31812	0.136	T	0.19257	-1.0311	9	0.59425	D	0.04	-0.1003	5.2212	0.15370	0.2259:0.0:0.2393:0.5348	.	545	Q8NB91	FANCB_HUMAN	M	545	.	ENSP00000326819:I545M	I	-	3	3	FANCB	14773191	0.000000	0.05858	0.083000	0.20561	0.032000	0.12392	0.108000	0.15396	1.788000	0.52465	0.425000	0.28330	ATA	FANCB	-	NULL		0.408	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	T	NM_152633		14863270	-1	no_errors	ENST00000324138	ensembl	human	known	70_37	missense	SNP	0.051	C	C	14863270	T	C	14863270	3	2	102	1	0	0	0	0	1	0	0	0	5681	1512	53	5	956	5	FANCB	23	14863270	Missense_Mutation	SNP	T	TCGA-EK-A2R7-01A-11D-A18J-09		14863270	140407290	127	15078										
USP51	158880	genome.wustl.edu	37	chrX	55514505	55514505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gtctttgtcatatacataatCcttacacatgaagcaatata	4	8	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:55514505C>T	ENST00000500968.3	-	2	950	c.868G>A	c.(868-870)Gat>Aat	p.D290N	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	290					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TATACATAATCCTTACACATG	0.343																																																	0													96	86	90					X																	55514505		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.868G>A	X.37:g.55514505C>T	ENSP00000423333:p.Asp290Asn		Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.D290N	ENST00000500968.3	37	c.868	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	18.81	3.702361	0.68501	.	.	ENSG00000247746	ENST00000500968	T	0.49432	0.78	3.19	3.19	0.36642	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	U	0.000000	T	0.72922	0.3521	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79680	-0.1702	10	0.87932	D	0	.	11.5852	0.50914	0.0:1.0:0.0:0.0	.	290	Q70EK9	UBP51_HUMAN	N	290	ENSP00000423333:D290N	ENSP00000423333:D290N	D	-	1	0	USP51	55531230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.669000	0.61575	1.869000	0.54173	0.508000	0.49915	GAT	USP51	-	pfam_Znf_UBP,pfscan_Znf_UBP		0.343	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55514505	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55514505	C	T	55514505	3	4	102	1	0	0	0	0	1	0	0	0	17114	855	30	1	1271	1	USP51	23	55514505	Missense_Mutation	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	40651235	55514505	99756055	128	15079										
SPIN3	169981	genome.wustl.edu	37	chrX	57021344	57021344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gccagcgcccgtcctggaccGctgccctgcagctgcctttc	11	19	0	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:57021344G>A	ENST00000374919.3	-	2	359	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	13					gamete generation (GO:0007276)			p.R13W(2)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GTCCTGGACCGCTGCCCTGCA	0.562																																																	2	Substitution - Missense(2)	large_intestine(2)											38	39	38					X																	57021344		2060	4174	6234	SO:0001583	missense	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.37C>T	X.37:g.57021344G>A	ENSP00000364054:p.Arg13Trp		B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	pfam_Spin_Ssty	p.R13W	ENST00000374919.3	37	c.37	CCDS43963.1	X	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928182	0.52759	.	.	ENSG00000204271	ENST00000374919;ENST00000374915	T	0.48836	0.8	2.45	1.54	0.23209	.	.	.	.	.	T	0.44201	0.1282	L	0.33485	1.01	0.31742	N	0.635653	D	0.69078	0.997	P	0.53313	0.723	T	0.52026	-0.8630	9	0.87932	D	0	-1.0089	6.5679	0.22523	0.0:0.0:0.4886:0.5114	.	13	Q5JUX0	SPIN3_HUMAN	W	13	ENSP00000364054:R13W	ENSP00000364050:R13W	R	-	1	2	SPIN3	57038069	0.055000	0.20627	0.550000	0.28217	0.077000	0.17291	0.385000	0.20685	0.445000	0.26639	0.600000	0.82982	CGG	SPIN3	-	NULL		0.562	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN3	HGNC	protein_coding	OTTHUMT00000056908.1	G	XM_093024		57021344	-1	no_errors	ENST00000374919	ensembl	human	known	70_37	missense	SNP	0.872	A	A	57021344	G	A	57021344	3	1	102	1	0	0	0	0	1	0	0	0	15085	1086	38	2	743	2	SPIN3	23	57021344	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	1506839	57021344	98249216	129	15080										
ATRX	546	genome.wustl.edu	37	chrX	76874309	76874309	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	taacatctcatagagaatgtGagcacgttttttcatcactc	6	9	3	2			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:76874309G>T	ENST00000373344.5	-	21	5627	c.5413C>A	c.(5413-5415)Cac>Aac	p.H1805N	ATRX_ENST00000395603.3_Missense_Mutation_p.H1767N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1805					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAGAGAATGTGAGCACGTTTT	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											125	110	115					X																	76874309		2203	4295	6498	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5413C>A	X.37:g.76874309G>T	ENSP00000362441:p.His1805Asn		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1805N	ENST00000373344.5	37	c.5413	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384919	0.82792	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92299	-3.01;-3.01	5.41	5.41	0.78517	SNF2-related (1);	0.000000	0.85682	U	0.000000	D	0.95943	0.8679	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.986;0.998	D	0.96345	0.9254	10	0.72032	D	0.01	-5.7347	18.2042	0.89848	0.0:0.0:1.0:0.0	.	1767;1805	P46100-4;P46100	.;ATRX_HUMAN	N	1805;1767	ENSP00000362441:H1805N;ENSP00000378967:H1767N	ENSP00000362441:H1805N	H	-	1	0	ATRX	76760965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.436000	0.97532	2.237000	0.73441	0.544000	0.68410	CAC	ATRX	-	pfam_SNF2_N		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76874309	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76874309	G	T	76874309	3	4	102	1	0	0	0	0	1	0	0	0	1209	1290	45	3	2125	3	ATRX	23	76874309	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	19852965	76874309	78396251	130	15081										
P2RY10	27334	genome.wustl.edu	37	chrX	78216864	78216864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gttgtcccgttgtccgaatcGcactgtatttccaccctttt	7	13	0	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:78216864G>A	ENST00000171757.2	+	4	1127	c.847G>A	c.(847-849)Gca>Aca	p.A283T	P2RY10_ENST00000544091.1_Missense_Mutation_p.A283T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGTCCGAATCGCACTGTATTT	0.413																																																	0																																										SO:0001583	missense	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.847G>A	X.37:g.78216864G>A	ENSP00000171757:p.Ala283Thr		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.A283T	ENST00000171757.2	37	c.847	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.535416	0.00942	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36520	1.25;1.25	4.99	-0.698	0.11280	GPCR, rhodopsin-like superfamily (1);	0.629100	0.16694	N	0.203419	T	0.13884	0.0336	N	0.04787	-0.16	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.31617	T	0.26	.	4.5107	0.11910	0.5191:0.0:0.3362:0.1447	.	283	O00398	P2Y10_HUMAN	T	283	ENSP00000443138:A283T;ENSP00000171757:A283T	ENSP00000171757:A283T	A	+	1	0	P2RY10	78103520	0.012000	0.17670	0.046000	0.18839	0.037000	0.13140	0.815000	0.27253	-0.343000	0.08351	-0.361000	0.07541	GCA	P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	G			78216864	1	no_errors	ENST00000171757	ensembl	human	known	70_37	missense	SNP	0.003	A	A	78216864	G	A	78216864	3	1	102	1	0	0	0	0	1	0	0	0	11371	1087	38	2	849	2	P2RY10	23	78216864	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	1342555	78216864	77053696	131	15082										
PCDH19	57526	genome.wustl.edu	37	chrX	99662118	99662118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	tgtcccgcacctgcgacggcAcgatctggtaggagacactg	13	13	1	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:99662118A>G	ENST00000373034.4	-	1	3153	c.1478T>C	c.(1477-1479)gTg>gCg	p.V493A	PCDH19_ENST00000255531.7_Missense_Mutation_p.V493A|PCDH19_ENST00000420881.2_Missense_Mutation_p.V493A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGCGACGGCACGATCTGGTA	0.587																																																	0													85	87	86					X																	99662118		2128	4226	6354	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1478T>C	X.37:g.99662118A>G	ENSP00000362125:p.Val493Ala		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V493A	ENST00000373034.4	37	c.1478	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093955	0.36952	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51574	0.7;0.7;0.7	5.64	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.120895	0.56097	D	0.000028	T	0.35422	0.0931	L	0.33093	0.98	0.58432	D	0.999997	B;B;B	0.19935	0.04;0.003;0.004	B;B;B	0.23419	0.046;0.017;0.029	T	0.14587	-1.0467	10	0.27785	T	0.31	.	10.1303	0.42674	0.9212:0.0:0.0788:0.0	.	493;493;493	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	493	ENSP00000400327:V493A;ENSP00000362125:V493A;ENSP00000255531:V493A	ENSP00000255531:V493A	V	-	2	0	PCDH19	99548774	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.531000	0.81973	1.882000	0.54519	0.417000	0.27973	GTG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	A	NM_020766		99662118	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99662118	A	G	99662118	3	3	102	1	0	0	0	0	1	0	0	0	11538	159	6	5	1992	5	PCDH19	23	99662118	Missense_Mutation	SNP	A	TCGA-EK-A2R7-01A-11D-A18J-09	21445254	99662118	55608442	132	15083										
RAB40AL	282808	genome.wustl.edu	37	chrX	102192891	102192891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	gtggacaagctcccgctcccCattgccttaagaagccacct	8	16	0	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:102192891C>T	ENST00000218249.5	+	1	692	c.645C>T	c.(643-645)ccC>ccT	p.P215P	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	215	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TCCCGCTCCCCATTGCCTTAA	0.602																																																	0													156	127	137					X																	102192891		2203	4300	6503	SO:0001819	synonymous_variant	282808			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.645C>T	X.37:g.102192891C>T			Q495H3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P215	ENST00000218249.5	37	c.645	CCDS35353.1	X																																																																																			RAB40AL	-	pfam_SOCS_C,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C		0.602	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40AL	HGNC	protein_coding	OTTHUMT00000057679.1	C	NM_001031834		102192891	1	no_errors	ENST00000218249	ensembl	human	known	70_37	silent	SNP	1.000	T	T	102192891	C	T	102192891	2	4	102	1	0	0	0	0	0	0	0	1	12970	581	21	4		4	RAB40AL	23	102192891	Silent	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	2530773	102192891	53077669	133	15084										
HPRT1	3251	genome.wustl.edu	37	chrX	133609305	133609305	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ggggctataaattctttgctGacctgctggattacatcaaa	9	8	2	1			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:133609305G>A	ENST00000298556.7	+	3	388	c.229G>A	c.(229-231)Gac>Aac	p.D77N	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	77					adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	ATTCTTTGCTGACCTGCTGGA	0.428																																																	0													86	77	80					X																	133609305		2203	4300	6503	SO:0001583	missense	3251			M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"Lesch-Nyhan syndrome"	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.229G>A	X.37:g.133609305G>A	ENSP00000298556:p.Asp77Asn		A6NHF0|B2R8M9	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.D77N	ENST00000298556.7	37	c.229	CCDS14641.1	X	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974395	0.92919	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99867	-7.31	4.68	4.68	0.58851	Phosphoribosyltransferase (1);	0.095715	0.64402	D	0.000001	D	0.99849	0.9930	M	0.92507	3.315	0.80722	D	1	D	0.56521	0.976	P	0.57009	0.811	D	0.96583	0.9432	10	0.62326	D	0.03	-13.9673	16.0028	0.80308	0.0:0.0:1.0:0.0	.	77	P00492	HPRT_HUMAN	N	77	ENSP00000298556:D77N	ENSP00000298556:D77N	D	+	1	0	HPRT1	133436971	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.378000	0.97191	2.057000	0.61298	0.600000	0.82982	GAC	HPRT1	-	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans		0.428	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPRT1	HGNC	protein_coding	OTTHUMT00000058361.1	G	NM_000194		133609305	1	no_errors	ENST00000298556	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133609305	G	A	133609305	3	1	102	1	0	0	0	0	1	0	0	0	7358	1290	45	1	239	1	HPRT1	23	133609305	Missense_Mutation	SNP	G	TCGA-EK-A2R7-01A-11D-A18J-09	31416414	133609305	21661255	134	15085										
MAGEC3	139081	genome.wustl.edu	37	chrX	140984602	140984602	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42962962962963	58	2.42110570099311e-21	3.90075637134461	4.97346437346437	3.20868669255766	1	1	43	ctttttattcccctcctcctCttccttgtcctcatcctcac	1	19	3	0			TCGA-EK-A2R7-01A-11D-A18J-09	TCGA-EK-A2R7-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9	d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c	g.chrX:140984602C>G	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S55C|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S55C|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S55C	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ccctcctcctcttccttgtcc	0.517																																																	0													120	72	88					X																	140984602		2203	4300	6503	SO:0001627	intron_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1124-66C>G	X.37:g.140984602C>G			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S55C	ENST00000298296.1	37	c.164	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	5.296	0.239989	0.10023	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.04502	3.61;3.61;3.61	1.32	-0.803	0.10886	.	.	.	.	.	T	0.05456	0.0144	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.46172	0.506	T	0.31971	-0.9924	8	0.72032	D	0.01	.	4.0234	0.09677	0.0:0.4934:0.0:0.5066	.	55	Q3SYA7	.	C	55	ENSP00000441107:S55C;ENSP00000440444:S55C;ENSP00000386566:S55C	ENSP00000386566:S55C	S	+	2	0	MAGEC3	140812268	0.000000	0.05858	0.005000	0.12908	0.056000	0.15407	-0.759000	0.04761	-0.408000	0.07565	0.363000	0.22086	TCT	MAGEC3	-	NULL		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140984602	1	no_errors	ENST00000536088	ensembl	human	known	70_37	missense	SNP	0.005	G	G	140984602	C	G	140984602	1	3	102	0	1	0	0	0	0	0	0	0	9205	913	32	1		1	MAGEC3	23	140984602	Intron	SNP	C	TCGA-EK-A2R7-01A-11D-A18J-09	7375297	140984602	14285958	135	15086										
TMEM52	339456	genome.wustl.edu	37	chr1	1849465	1849465	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcctctctgggcttggccatCttgacagcttcatcgtagga	10	12	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:1849465C>G	ENST00000310991.3	-	5	493	c.486G>C	c.(484-486)aaG>aaC	p.K162N	TMEM52_ENST00000378602.3_Missense_Mutation_p.K147N	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	162						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTTGGCCATCTTGACAGCTT	0.642																																																	0													159	163	161					1																	1849465		2203	4300	6503	SO:0001583	missense	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.486G>C	1.37:g.1849465C>G	ENSP00000311122:p.Lys162Asn		Q4VXS6|Q6UX25	Missense_Mutation	SNP	NULL	p.K162N	ENST00000310991.3	37	c.486	CCDS35.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.85|13.85	2.359415|2.359415	0.41801|0.41801	.|.	.|.	ENSG00000178821|ENSG00000178821	ENST00000378602;ENST00000310991|ENST00000378598	T;T|.	0.35048|.	1.33;1.33|.	4.2|4.2	2.32|2.32	0.28847|0.28847	.|.	0.000000|.	0.48286|.	D|.	0.000197|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.47716|0.47716	1.5|1.5	0.32156|0.32156	N|N	0.583558|0.583558	D;D|.	0.76494|.	0.999;0.997|.	D;P|.	0.76575|.	0.988;0.871|.	T|T	0.56378|0.56378	-0.7989|-0.7989	10|6	0.56958|0.87932	D|D	0.05|0	-21.3956|-21.3956	6.7921|6.7921	0.23705|0.23705	0.0:0.6922:0.0:0.3078|0.0:0.6922:0.0:0.3078	.|.	162;147|.	Q8NDY8;Q8NDY8-2|.	TMM52_HUMAN;.|.	N|T	147;162|101	ENSP00000367865:K147N;ENSP00000311122:K162N|.	ENSP00000311122:K162N|ENSP00000367861:R101T	K|R	-|-	3|2	2|0	TMEM52|TMEM52	1839325|1839325	0.019000|0.019000	0.18553|0.18553	0.800000|0.800000	0.32199|0.32199	0.291000|0.291000	0.27294|0.27294	0.311000|0.311000	0.19380|0.19380	0.499000|0.499000	0.27970|0.27970	-0.224000|-0.224000	0.12420|0.12420	AAG|AGA	TMEM52	-	NULL		0.642	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM52	HGNC	protein_coding	OTTHUMT00000002781.1	C	NM_178545		1849465	-1	no_errors	ENST00000310991	ensembl	human	known	70_37	missense	SNP	0.972	G	G	1849465	C	G	1849465	3	3	103	1	0	0	0	0	1	0	0	0	16208	912	32	1	147	1	TMEM52	1	1849465	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		1849465	247401156	1	15087										
TAS1R2	80834	genome.wustl.edu	37	chr1	19180914	19180914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tagctctggctggtcctgctGaggggtggcggcccagcctg	17	12	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:19180914G>A	ENST00000375371.3	-	3	1071	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	350					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGTCCTGCTGAGGGGTGGCG	0.637																																																	0													80	75	77					1																	19180914		2203	4300	6503	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1050C>T	1.37:g.19180914G>A			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L350	ENST00000375371.3	37	c.1050	CCDS187.1	1																																																																																			TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19180914	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	silent	SNP	0.000	A	A	19180914	G	A	19180914	2	1	103	1	0	0	0	0	0	0	0	1	15593	1277	45	1		1	TAS1R2	1	19180914	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	17331449	19180914	230069707	2	15088										
UBXN10	127733	genome.wustl.edu	37	chr1	20517712	20517712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gccatttccggccaacagatGatttgcaaaccattgttgct	8	11	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:20517712G>A	ENST00000375099.3	+	2	742	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	220	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GCCAACAGATGATTTGCAAAC	0.488																																																	0													101	97	98					1																	20517712		2203	4300	6503	SO:0001583	missense	127733			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.658G>A	1.37:g.20517712G>A	ENSP00000364240:p.Asp220Asn		Q5R386	Missense_Mutation	SNP	pfam_UBX,smart_UBX,pfscan_UBX	p.D220N	ENST00000375099.3	37	c.658	CCDS205.1	1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349170	0.24426	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.03	1.96	0.26148	UBX (3);	0.920555	0.09191	N	0.836063	T	0.17408	0.0418	N	0.12182	0.205	0.22762	N	0.998761	B	0.12630	0.006	B	0.12156	0.007	T	0.32188	-0.9916	9	0.10636	T	0.68	-10.3154	5.3722	0.16146	0.4754:0.0:0.5246:0.0	.	220	Q96LJ8	UBX10_HUMAN	N	220	.	ENSP00000364240:D220N	D	+	1	0	UBXN10	20390299	0.137000	0.22531	0.025000	0.17156	0.986000	0.74619	1.515000	0.35845	0.722000	0.32252	0.591000	0.81541	GAT	UBXN10	-	pfam_UBX,smart_UBX,pfscan_UBX		0.488	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN10	HGNC	protein_coding	OTTHUMT00000007693.1	G	NM_152376		20517712	1	no_errors	ENST00000375099	ensembl	human	known	70_37	missense	SNP	0.526	A	A	20517712	G	A	20517712	3	1	103	1	0	0	0	0	1	0	0	0	16943	1290	45	1	660	1	UBXN10	1	20517712	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1336798	20517712	228732909	3	15089										
ZSCAN20	7579	genome.wustl.edu	37	chr1	33960203	33960203	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttagtgaccgctctaacctCaatacccatcagagaatcca	5	13	3	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:33960203C>G	ENST00000361328.3	+	8	2412	c.2259C>G	c.(2257-2259)ctC>ctG	p.L753L		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	753					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCTCTAACCTCAATACCCATC	0.458																																																	0													88	99	95					1																	33960203		2144	4271	6415	SO:0001819	synonymous_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2259C>G	1.37:g.33960203C>G			A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L753	ENST00000361328.3	37	c.2259	CCDS41300.1	1																																																																																			ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	C	NM_145238		33960203	1	no_errors	ENST00000326544	ensembl	human	known	70_37	silent	SNP	0.122	G	G	33960203	C	G	33960203	2	3	103	1	0	0	0	0	0	0	0	1	18262	813	29	1		1	ZSCAN20	1	33960203	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	13442491	33960203	215290418	4	15090										
MAP7D1	55700	genome.wustl.edu	37	chr1	36636740	36636740	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	actggaaccagagagcccctCagggcaggtcgggcctaggc	15	13	1	1	rs552661941		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:36636740C>T	ENST00000373151.2	+	2	431	c.215C>T	c.(214-216)tCa>tTa	p.S72L	MAP7D1_ENST00000373150.4_Missense_Mutation_p.S72L|MAP7D1_ENST00000316156.4_Missense_Mutation_p.S72L	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	72	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GAGAGCCCCTCAGGGCAGGTC	0.652													C|||	1	0.000199681	0	0	5008	,	,		13747	0.001		0	False		,,,				2504	0																0													49	55	53					1																	36636740		2203	4300	6503	SO:0001583	missense	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.215C>T	1.37:g.36636740C>T	ENSP00000362244:p.Ser72Leu		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	pfam_E-MAP-115	p.S72L	ENST00000373151.2	37	c.215	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711607	0.30322	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52	4.35	2.41	0.29592	.	1.318270	0.05376	N	0.536343	T	0.03434	0.0099	N	0.08118	0	0.09310	N	0.999998	B;B;P	0.35328	0.0;0.0;0.495	B;B;B	0.24974	0.0;0.0;0.057	T	0.35599	-0.9782	10	0.40728	T	0.16	1.8138	7.1624	0.25671	0.0:0.7226:0.1781:0.0993	.	72;72;72	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	L	33;72;72;72;33	ENSP00000390091:S33L;ENSP00000320228:S72L;ENSP00000362243:S72L;ENSP00000362244:S72L;ENSP00000435126:S33L	ENSP00000320228:S72L	S	+	2	0	MAP7D1	36409327	0.000000	0.05858	0.009000	0.14445	0.842000	0.47809	0.436000	0.21526	1.147000	0.42369	0.462000	0.41574	TCA	MAP7D1	-	NULL		0.652	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	C	NM_018067		36636740	1	no_errors	ENST00000373151	ensembl	human	known	70_37	missense	SNP	0.013	T	T	36636740	C	T	36636740	3	4	103	1	0	0	0	0	1	0	0	0	9290	838	29	1	221	1	MAP7D1	1	36636740	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2676537	36636740	212613881	5	15091										
MACF1	23499	genome.wustl.edu	37	chr1	39910438	39910438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gactctgggtctggctccaaGacagaacagagtgtagcact	12	10	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:39910438G>C	ENST00000372915.3	+	79	19320	c.19233G>C	c.(19231-19233)aaG>aaC	p.K6411N	MACF1_ENST00000289893.4_Missense_Mutation_p.K4955N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4453N|MACF1_ENST00000539005.1_Missense_Mutation_p.K4323N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4453N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6549N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4453N|MACF1_ENST00000564288.1_Missense_Mutation_p.K6512N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6411					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCTCCAAGACAGAACAGA	0.458																																																	0													110	99	102					1																	39910438		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19233G>C	1.37:g.39910438G>C	ENSP00000362006:p.Lys6411Asn		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K4453N	ENST00000372915.3	37	c.13359		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.359|9.359	1.067497|1.067497	0.20067|0.20067	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74;0.74;0.74	6.16|6.16	2.4|2.4	0.29515|0.29515	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.25044|0.25044	0.0608|0.0608	N|N	0.00996|0.00996	-1.065|-1.065	0.80722|0.80722	D|D	1|1	.|D;B	.|0.62365	.|0.991;0.033	.|P;B	.|0.60609	.|0.877;0.051	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.06365	.|T	.|0.9	.|.	6.1564|6.1564	0.20340|0.20340	0.318:0.1328:0.5492:0.0|0.318:0.1328:0.5492:0.0	.|.	.|6411;4453	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	H|N	3457|4453;6411;4453;4453;4323;4955	.|ENSP00000439537:K4453N;ENSP00000362006:K6411N;ENSP00000354573:K4453N;ENSP00000313438:K4453N;ENSP00000444364:K4323N;ENSP00000289893:K4955N	.|ENSP00000289893:K4955N	D|K	+|+	1|3	0|2	MACF1|MACF1	39683025|39683025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.964000|1.964000	0.40462|0.40462	0.682000|0.682000	0.31407|0.31407	-0.142000|-0.142000	0.14014|0.14014	GAC|AAG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39910438	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39910438	G	C	39910438	3	2	103	1	0	0	0	0	1	0	0	0	9167	933	33	1	19812	1	MACF1	1	39910438	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3273698	39910438	209340183	6	15092										
NASP	4678	genome.wustl.edu	37	chr1	46073046	46073046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atgacgccatgggagaaaaaGaagaagccaaaaaaacagaa	10	6	0	5			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:46073046G>C	ENST00000350030.3	+	6	550	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E91Q|NASP_ENST00000402363.3_Missense_Mutation_p.E157Q	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	155	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGGAGAAAAAGAAGAAGCCAA	0.393																																																	0													56	56	56					1																	46073046		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.463G>C	1.37:g.46073046G>C	ENSP00000255120:p.Glu155Gln		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E157Q	ENST00000350030.3	37	c.469	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362967	0.61403	.	.	ENSG00000132780	ENST00000527470;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;T;T;T	0.94687	-3.49;0.68;0.61;0.59	5.33	5.33	0.75918	.	0.317639	0.28606	N	0.014760	D	0.94817	0.8326	N	0.24115	0.695	0.29779	N	0.834167	D;D;D;D;D	0.76494	0.999;0.998;0.993;0.998;0.999	D;P;P;P;D	0.64776	0.929;0.852;0.782;0.852;0.929	D	0.92102	0.5689	10	0.87932	D	0	-8.477	19.3913	0.94584	0.0:0.0:1.0:0.0	.	91;155;55;155;157	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	Q	91;91;157;55;155;118	ENSP00000437241:E91Q;ENSP00000438871:E91Q;ENSP00000384529:E157Q;ENSP00000255120:E155Q	ENSP00000345532:E55Q	E	+	1	0	NASP	45845633	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.490000	0.60319	2.639000	0.89480	0.650000	0.86243	GAA	NASP	-	NULL		0.393	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	G	NM_002482		46073046	1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46073046	G	C	46073046	3	2	103	1	0	0	0	0	1	0	0	0	10195	943	33	1	562	1	NASP	1	46073046	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6162608	46073046	203177575	7	15093										
NSUN4	387338	genome.wustl.edu	37	chr1	46826421	46826421	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagaccgccactcccttcatGaggaggagaacaacatcttt	8	13	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:46826421G>A	ENST00000474844.1	+	5	1449	c.799G>A	c.(799-801)Gag>Aag	p.E267K	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.E218K|NSUN4_ENST00000536062.1_Missense_Mutation_p.E218K	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	267					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTCCCTTCATGAGGAGGAGAA	0.473																																																	0													137	125	129					1																	46826421		2203	4300	6503	SO:0001583	missense	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.799G>A	1.37:g.46826421G>A	ENSP00000419740:p.Glu267Lys		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.E267K	ENST00000474844.1	37	c.799	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866669	0.91511	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.20463	2.07;2.07;2.07	5.46	4.53	0.55603	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.046521	0.85682	D	0.000000	T	0.25827	0.0629	L	0.37850	1.14	0.58432	D	0.999991	P;P	0.50943	0.94;0.749	P;P	0.50791	0.65;0.475	T	0.01405	-1.1363	10	0.33141	T	0.24	-16.744	14.6179	0.68562	0.0:0.1452:0.8548:0.0	.	134;267	B3KUM0;Q96CB9	.;NSUN4_HUMAN	K	267;218;218	ENSP00000419740:E267K;ENSP00000438912:E218K;ENSP00000437758:E218K	ENSP00000419740:E267K	E	+	1	0	NSUN4	46599008	1.000000	0.71417	0.990000	0.47175	0.880000	0.50808	7.764000	0.85297	1.500000	0.48636	0.655000	0.94253	GAG	NSUN4	-	pfam_Fmu/NOL1/Nop2p		0.473	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	G	NM_199044		46826421	1	no_errors	ENST00000474844	ensembl	human	known	70_37	missense	SNP	0.997	A	A	46826421	G	A	46826421	3	1	103	1	0	0	0	0	1	0	0	0	10704	1291	45	1	817	1	NSUN4	1	46826421	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	753375	46826421	202424200	8	15094										
NRD1	4898	genome.wustl.edu	37	chr1	52264001	52264001	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gacgaagctcagcagagactCaagggaaaggccgtccatca	12	11	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:52264001C>G	ENST00000354831.7	-	24	2917	c.2728G>C	c.(2728-2730)Gag>Cag	p.E910Q	RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E710Q|RP4-657D16.6_ENST00000607338.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.E778Q|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.E842Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	841					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCAGAGACTCAAGGGAAAGG	0.478																																																	0													91	88	89					1																	52264001		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2728G>C	1.37:g.52264001C>G	ENSP00000346890:p.Glu910Gln		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E910Q	ENST00000354831.7	37	c.2728	CCDS559.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.279284|3.279284	0.59758|0.59758	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	T;T;T;T|.	0.35236|.	2.95;2.95;2.95;1.32|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.270116|.	0.41712|.	D|.	0.000822|.	T|.	0.71358|.	0.3330|.	M|M	0.66939|0.66939	2.045|2.045	0.46954|0.46954	D|D	0.999265|0.999265	B;B;B|.	0.31153|.	0.264;0.31;0.31|.	B;B;B|.	0.33960|.	0.108;0.173;0.173|.	T|.	0.69202|.	-0.5207|.	10|.	0.49607|.	T|.	0.09|.	-3.6363|-3.6363	13.108|13.108	0.59257|0.59257	0.0:0.9277:0.0:0.0722|0.0:0.9277:0.0:0.0722	.|.	842;841;910|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	Q|S	842;910;778;272;842;710|256	ENSP00000262679:E842Q;ENSP00000346890:E910Q;ENSP00000444416:E778Q;ENSP00000442262:E710Q|.	ENSP00000262679:E842Q|.	E|X	-|-	1|2	0|2	NRD1|NRD1	52036589|52036589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.435000|4.435000	0.59941|0.59941	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|TGA	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.478	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	C	NM_002525		52264001	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52264001	C	G	52264001	3	3	103	1	0	0	0	0	1	0	0	0	10669	835	29	1	971	1	NRD1	1	52264001	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5437580	52264001	196986620	9	15095										
SLC1A7	6512	genome.wustl.edu	37	chr1	53580588	53580588	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cacaggtagtacgccacggtGaggacgcccaggcggctaga	15	12	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:53580588G>A	ENST00000371494.4	-	3	400	c.273C>T	c.(271-273)ctC>ctT	p.L91L	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.L91L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	91					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		ACGCCACGGTGAGGACGCCCA	0.647																																					NSCLC(128;80 1811 21245 38490 51715)												0													90	72	78					1																	53580588		2203	4300	6503	SO:0001819	synonymous_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.273C>T	1.37:g.53580588G>A			Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L91	ENST00000371494.4	37	c.273	CCDS574.1	1																																																																																			SLC1A7	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	G	NM_006671		53580588	-1	no_errors	ENST00000371494	ensembl	human	known	70_37	silent	SNP	0.988	A	A	53580588	G	A	53580588	2	1	103	1	0	0	0	0	0	0	0	1	14467	1277	45	1		1	SLC1A7	1	53580588	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1316587	53580588	195670033	10	15096										
C1orf175	374977	genome.wustl.edu	37	chr1	55118859	55118859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccccagacctgatgacagcaGagctatcgctccagcctccc	8	18	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:55118859G>C	ENST00000421030.2	+	3	545	c.260G>C	c.(259-261)aGa>aCa	p.R87T	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.R87T|MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R87T|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.R87T|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	87						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GATGACAGCAGAGCTATCGCT	0.562																																																	0													73	73	73					1																	55118859		1961	4140	6101	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.260G>C	1.37:g.55118859G>C	ENSP00000396622:p.Arg87Thr		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R87T	ENST00000421030.2	37	c.260	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038625	0.19669	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02498	4.81;4.27;4.28	3.54	-3.12	0.05282	.	1.800020	0.03618	N	0.235853	T	0.02193	0.0068	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21606	0.021;0.012;0.058	B;B;B	0.14023	0.006;0.004;0.01	T	0.45745	-0.9240	10	0.44086	T	0.13	.	4.4702	0.11708	0.4754:0.2469:0.2777:0.0	.	87;87;87	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	T	87	ENSP00000396622:R87T;ENSP00000343211:R87T;ENSP00000379044:R87T	ENSP00000343211:R87T	R	+	2	0	HEATR8	54891447	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.399000	0.07250	-0.593000	0.05844	0.556000	0.70494	AGA	HEATR8	-	NULL		0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	G	NM_198547		55118859	1	no_errors	ENST00000421030	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55118859	G	C	55118859	3	2	103	1	0	0	0	0	1	0	0	0	2021	942	33	1	262	1	C1orf175	1	55118859	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1538271	55118859	194131762	11	15097										
ROR1	4919	genome.wustl.edu	37	chr1	64644127	64644127	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggtattacaccacagggccaGattgctggtttcattggccc	11	11	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:64644127G>C	ENST00000371079.1	+	9	2778	c.2403G>C	c.(2401-2403)caG>caC	p.Q801H	ROR1_ENST00000545203.1_Missense_Mutation_p.Q252H	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	801	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACAGGGCCAGATTGCTGGTT	0.517																																																	0													70	71	71					1																	64644127		2203	4300	6503	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2403G>C	1.37:g.64644127G>C	ENSP00000360120:p.Gln801His		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q801H	ENST00000371079.1	37	c.2403	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703736	0.48412	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.79940	-1.04;-1.32	6.17	5.25	0.73442	.	0.000000	0.40728	N	0.001030	T	0.74329	0.3702	N	0.24115	0.695	0.54753	D	0.999985	D	0.71674	0.998	D	0.66979	0.948	T	0.77713	-0.2485	10	0.41790	T	0.15	.	10.744	0.46170	0.1828:0.0:0.8172:0.0	.	801	Q01973	ROR1_HUMAN	H	801;804;252	ENSP00000360120:Q801H;ENSP00000441637:Q252H	ENSP00000360120:Q801H	Q	+	3	2	ROR1	64416715	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.351000	0.34022	1.599000	0.50093	0.655000	0.94253	CAG	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR		0.517	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	G	NM_005012		64644127	1	no_errors	ENST00000371079	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64644127	G	C	64644127	3	2	103	1	0	0	0	0	1	0	0	0	13556	933	33	1	2445	1	ROR1	1	64644127	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	9525268	64644127	184606494	12	15098										
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	76540566	76540566	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agcgccatggcctgcatcctGaaggtaacgacttggatctg	12	11	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:76540566G>A	ENST00000328299.3	+	1	163	c.15G>A	c.(13-15)ctG>ctA	p.L5L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	5					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CCTGCATCCTGAAGGTAACGA	0.692																																																	0													48	42	44					1																	76540566		2201	4295	6496	SO:0001819	synonymous_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.15G>A	1.37:g.76540566G>A			Q6PCE0|Q6UX29|Q8N259	Silent	SNP	pfam_Glyco_trans_29	p.L5	ENST00000328299.3	37	c.15	CCDS672.1	1																																																																																			ST6GALNAC3	-	NULL		0.692	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	G	NM_152996		76540566	1	no_errors	ENST00000328299	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76540566	G	A	76540566	2	1	103	1	0	0	0	0	0	0	0	1	15255	1277	45	1		1	ST6GALNAC3	1	76540566	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	11896439	76540566	172710055	13	15099										
LPHN2	23266	genome.wustl.edu	37	chr1	82408901	82408901	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtactggatttgtggtgtatGatggtgctgtcttctttaac	12	5	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:82408901G>A	ENST00000370728.1	+	8	1291	c.646G>A	c.(646-648)Gat>Aat	p.D216N	LPHN2_ENST00000370723.1_Missense_Mutation_p.D216N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D216N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D216N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D216N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D216N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D216N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D216N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D220N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D216N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D216N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D216N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D216N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D216N|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	216	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTGGTGTATGATGGTGCTGT	0.348																																																	0													124	124	124					1																	82408901		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.646G>A	1.37:g.82408901G>A	ENSP00000359763:p.Asp216Asn		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D216N	ENST00000370728.1	37	c.646		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.492088|4.492088	0.84962|0.84962	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.87650|.	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.114632|.	0.64402|.	D|.	0.000019|.	T|T	0.47655|0.47655	0.1457|0.1457	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.995;0.997;0.995|.	D;D;D|.	0.68621|.	0.959;0.928;0.959|.	T|T	0.36016|0.36016	-0.9765|-0.9765	10|5	0.87932|.	D|.	0|.	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	216;216;216|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	N|I	220;216;216;216;216;216;216;216;216;216;216;216;216;216|83	ENSP00000359756:D220N;ENSP00000359763:D216N;ENSP00000359765:D216N;ENSP00000359762:D216N;ENSP00000359760:D216N;ENSP00000359758:D216N;ENSP00000353006:D216N;ENSP00000359750:D216N;ENSP00000359748:D216N;ENSP00000322270:D216N;ENSP00000359752:D216N;ENSP00000378344:D216N;ENSP00000271029:D216N;ENSP00000337306:D216N|.	ENSP00000271029:D216N|.	D|M	+|+	1|3	0|0	LPHN2|LPHN2	82181489|82181489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.869000|9.869000	0.99810|0.99810	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAT|ATG	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.348	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	G	NM_012302		82408901	1	no_errors	ENST00000370717	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82408901	G	A	82408901	3	1	103	1	0	0	0	0	1	0	0	0	8939	1290	45	1	660	1	LPHN2	1	82408901	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	5868335	82408901	166841720	14	15100										
TTLL7	79739	genome.wustl.edu	37	chr1	84403639	84403639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttgttctcagtttcatcccGttcaaaatgctcattatgct	5	10	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:84403639G>A	ENST00000260505.8	-	8	1161	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	262	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTTTCATCCCGTTCAAAATGC	0.383																																																	0													257	222	234					1																	84403639		2203	4300	6503	SO:0001583	missense	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.784C>T	1.37:g.84403639G>A	ENSP00000260505:p.Arg262Trp		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R262W	ENST00000260505.8	37	c.784	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091968	0.76756	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.06371	3.31	5.85	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02115	-1.1211	10	0.59425	D	0.04	.	15.4955	0.75646	0.0:0.0:0.6819:0.3181	.	262	Q6ZT98	TTLL7_HUMAN	W	262	ENSP00000260505:R262W	ENSP00000260505:R262W	R	-	1	2	TTLL7	84176227	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	5.043000	0.64208	0.277000	0.22141	0.655000	0.94253	CGG	TTLL7	-	pfam_Tub_tyr_ligase		0.383	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	G	NM_024686		84403639	-1	no_errors	ENST00000260505	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84403639	G	A	84403639	3	1	103	1	0	0	0	0	1	0	0	0	16763	1144	40	2	1935	2	TTLL7	1	84403639	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1994738	84403639	164846982	15	15101										
HFM1	164045	genome.wustl.edu	37	chr1	91727882	91727882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aagaatttgggtttttttcaGagaaagtaaagcattgcttc	9	4	1	2	rs190831701		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:91727882G>A	ENST00000370425.3	-	38	4252	c.4154C>T	c.(4153-4155)tCt>tTt	p.S1385F	HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S1064F|HFM1_ENST00000462405.1_5'UTR|Y_RNA_ENST00000384090.1_RNA	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1385					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTTTTCAGAGAAAGTAAA	0.279																																																	0													60	61	61					1																	91727882		1940	4166	6106	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4154C>T	1.37:g.91727882G>A	ENSP00000359454:p.Ser1385Phe		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1385F	ENST00000370425.3	37	c.4154	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618253	0.14129	.	.	ENSG00000162669	ENST00000370425;ENST00000370424	T;T	0.70749	0.0;-0.51	4.73	2.86	0.33363	.	1.914000	0.02356	N	0.076368	T	0.51787	0.1695	L	0.34521	1.04	0.09310	N	0.999998	B;P	0.50943	0.123;0.94	B;P	0.48030	0.03;0.564	T	0.47407	-0.9120	10	0.72032	D	0.01	.	7.3718	0.26806	0.0874:0.0:0.7461:0.1665	.	596;1385	B1B0B5;A2PYH4	.;HFM1_HUMAN	F	1385;1064	ENSP00000359454:S1385F;ENSP00000359453:S1064F	ENSP00000359453:S1064F	S	-	2	0	HFM1	91500470	0.041000	0.20044	0.004000	0.12327	0.001000	0.01503	1.917000	0.39996	0.720000	0.32209	-0.379000	0.06801	TCT	HFM1	-	NULL		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91727882	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.004	A	A	91727882	G	A	91727882	3	1	103	1	0	0	0	0	1	0	0	0	7103	942	33	1	161	1	HFM1	1	91727882	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	7324243	91727882	157522739	16	15102										
SLC44A3	126969	genome.wustl.edu	37	chr1	95332942	95332942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgctactgctgtttctggtGtcttgacaaatacctgctcc	8	12	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:95332942G>A	ENST00000271227.6	+	12	1553	c.1451G>A	c.(1450-1452)tGt>tAt	p.C484Y	SLC44A3_ENST00000446120.2_Missense_Mutation_p.C448Y|SLC44A3_ENST00000467909.1_Missense_Mutation_p.C436Y|SLC44A3_ENST00000527077.1_Missense_Mutation_p.C416Y|SLC44A3_ENST00000532427.1_Missense_Mutation_p.C404Y|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.C451Y	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	484	Cys-rich.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGTTTCTGGTGTCTTGACAAA	0.488																																																	0													226	173	191					1																	95332942		2203	4300	6503	SO:0001583	missense	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1451G>A	1.37:g.95332942G>A	ENSP00000271227:p.Cys484Tyr		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.C484Y	ENST00000271227.6	37	c.1451	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292792	0.40594	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427;ENST00000532670	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.95	2.83	0.33086	.	0.261873	0.34088	N	0.004261	T	0.29749	0.0743	M	0.90252	3.1	0.40900	D	0.984146	B;B;B;B;B	0.33103	0.004;0.397;0.004;0.004;0.004	B;B;B;B;B	0.42827	0.007;0.399;0.007;0.011;0.012	T	0.25710	-1.0124	10	0.66056	D	0.02	-3.2656	4.0463	0.09774	0.1514:0.1248:0.5956:0.1281	.	404;448;416;451;484	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	Y	448;484;416;451;436;404;19	ENSP00000389143:C448Y;ENSP00000271227:C484Y;ENSP00000433641:C416Y;ENSP00000431836:C451Y;ENSP00000432789:C436Y;ENSP00000436661:C404Y;ENSP00000432880:C19Y	ENSP00000271227:C484Y	C	+	2	0	SLC44A3	95105530	1.000000	0.71417	0.160000	0.22671	0.975000	0.68041	3.699000	0.54778	0.792000	0.33850	0.563000	0.77884	TGT	SLC44A3	-	pfam_Choline_transptr-like		0.488	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	G	NM_152369		95332942	1	no_errors	ENST00000271227	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95332942	G	A	95332942	3	1	103	1	0	0	0	0	1	0	0	0	14667	1377	48	4	1497	4	SLC44A3	1	95332942	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3605060	95332942	153917679	17	15103										
VCAM1	7412	genome.wustl.edu	37	chr1	101194865	101194865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agccctgtgagttttgagaaCgaacactcttatctgtgcac	9	10	2	2	rs372051353		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:101194865C>T	ENST00000294728.2	+	5	1232	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	377	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTTTTGAGAACGAACACTCTT	0.493																																																	0								C	,,	0,4406		0,0,2203	115	120	118		1131,945,	-6.6	0.1	1		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	377/740,315/678,	101194865	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1131C>T	1.37:g.101194865C>T			A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.N377	ENST00000294728.2	37	c.1131	CCDS773.1	1																																																																																			VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	C	NM_001078		101194865	1	no_errors	ENST00000294728	ensembl	human	known	70_37	silent	SNP	0.235	T	T	101194865	C	T	101194865	2	4	103	1	0	0	0	0	0	0	0	1	17168	535	19	2		2	VCAM1	1	101194865	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5861923	101194865	148055756	18	15104										
SPAG17	200162	genome.wustl.edu	37	chr1	118550795	118550795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tacccgcatacacttcacctGcctggtgacagtccgaggac	9	15	1	1	rs200203535		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:118550795G>T	ENST00000336338.5	-	31	4524	c.4459C>A	c.(4459-4461)Cag>Aag	p.Q1487K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1487						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACTTCACCTGCCTGGTGACA	0.488																																																	0													109	90	96					1																	118550795		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4459C>A	1.37:g.118550795G>T	ENSP00000337804:p.Gln1487Lys		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.Q1487K	ENST00000336338.5	37	c.4459	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940162	0.34283	.	.	ENSG00000155761	ENST00000336338	T	0.16073	2.37	5.53	5.53	0.82687	.	0.226336	0.43260	D	0.000599	T	0.05135	0.0137	L	0.39898	1.24	0.26016	N	0.981921	P	0.37731	0.607	B	0.32465	0.146	T	0.28839	-1.0031	10	0.16896	T	0.51	.	12.1664	0.54133	0.0:0.0:0.7282:0.2718	.	1487	Q6Q759	SPG17_HUMAN	K	1487	ENSP00000337804:Q1487K	ENSP00000337804:Q1487K	Q	-	1	0	SPAG17	118352318	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.584000	0.60971	2.763000	0.94921	0.563000	0.77884	CAG	SPAG17	-	NULL		0.488	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	G	NM_206996		118550795	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118550795	G	T	118550795	3	4	103	1	0	0	0	0	1	0	0	0	15009	1328	46	4	2284	4	SPAG17	1	118550795	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	17355930	118550795	130699826	19	15105										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144915469	144915469	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctttcctgctccctggtgctCacagactgaagcaggccttg	10	14	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:144915469C>T	ENST00000369354.3	-	14	2145	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	PDE4DIP_ENST00000313382.9_Silent_p.V718V|PDE4DIP_ENST00000369349.3_Silent_p.V652V|PDE4DIP_ENST00000313431.9_Silent_p.V815V|PDE4DIP_ENST00000369356.4_Silent_p.V652V|PDE4DIP_ENST00000369351.3_Silent_p.V652V|PDE4DIP_ENST00000479408.2_Silent_p.V439V|PDE4DIP_ENST00000529945.1_Silent_p.V815V|PDE4DIP_ENST00000530740.1_Silent_p.V789V|PDE4DIP_ENST00000369359.4_Silent_p.V789V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	652					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTGGTGCTCACAGACTGAA	0.443			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													288	263	271					1																	144915469		2203	4296	6499	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1956G>A	1.37:g.144915469C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.V652	ENST00000369354.3	37	c.1956	CCDS30824.1	1																																																																																			PDE4DIP	-	superfamily_ARM-type_fold		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144915469	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.996	T	T	144915469	C	T	144915469	2	4	103	1	0	0	0	0	0	0	0	1	11667	813	29	1		1	PDE4DIP	1	144915469	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	26364674	144915469	104335152	20	15106										
PDZK1	5174	genome.wustl.edu	37	chr1	145763595	145763595	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagtacagcctcacattcttCttccaattctgaagatacag	5	12	4	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:145763595C>T	ENST00000344770.2	+	9	1605	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F	PDZK1_ENST00000465595.1_3'UTR|PDZK1_ENST00000417171.1_Missense_Mutation_p.S511F|PDZK1_ENST00000451928.2_Missense_Mutation_p.S400F	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	511					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCACATTCTTCTTCCAATTCT	0.353																																																	0													17	17	17					1																	145763595		2190	4269	6459	SO:0001583	missense	5174			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1532C>T	1.37:g.145763595C>T	ENSP00000342143:p.Ser511Phe		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S511F	ENST00000344770.2	37	c.1532	CCDS924.1	1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453391	0.63290	.	.	ENSG00000174827	ENST00000417171;ENST00000451928;ENST00000344770	T;T;T	0.33865	1.42;1.39;1.42	4.37	4.37	0.52481	.	0.422683	0.24470	N	0.038260	T	0.45994	0.1370	L	0.58101	1.795	0.48185	D	0.999605	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.46219	-0.9207	10	0.66056	D	0.02	-15.0281	12.2666	0.54681	0.0:1.0:0.0:0.0	.	400;511	E7EU02;Q5T2W1	.;NHRF3_HUMAN	F	511;400;511	ENSP00000394485:S511F;ENSP00000403422:S400F;ENSP00000342143:S511F	ENSP00000342143:S511F	S	+	2	0	PDZK1	144474952	1.000000	0.71417	0.836000	0.33094	0.994000	0.84299	3.324000	0.52022	2.282000	0.76494	0.467000	0.42956	TCT	PDZK1	-	NULL		0.353	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	C	NM_002614		145763595	1	no_errors	ENST00000344770	ensembl	human	known	70_37	missense	SNP	0.948	T	T	145763595	C	T	145763595	3	4	103	1	0	0	0	0	1	0	0	0	11731	913	32	1	1562	1	PDZK1	1	145763595	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	848126	145763595	103487026	21	15107										
APH1A	51107	genome.wustl.edu	37	chr1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgcgaccaggatgataacgcGaagcgggtccccagccacag	13	13	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:150241120G>A	ENST00000369109.3	-	1	279	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R31C|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|C1orf54_ENST00000369102.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647																																																	0													20	26	24					1																	150241120		1883	4097	5980	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.91C>T	1.37:g.150241120G>A	ENSP00000358105:p.Arg31Cys		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	pfam_Aph-1	p.R31C	ENST00000369109.3	37	c.91	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955280	0.73902	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.99	4.99	0.66335	.	0.134854	0.45126	D	0.000388	T	0.64897	0.2640	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.998;0.999;1.0	D;P;P;D;D	0.69824	0.966;0.667;0.906;0.943;0.961	T	0.71337	-0.4623	10	0.87932	D	0	-5.2281	10.8073	0.46524	0.0:0.0:0.8115:0.1885	.	31;31;31;31;31	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	C	31	ENSP00000358105:R31C;ENSP00000353380:R31C;ENSP00000397473:R31C;ENSP00000236017:R31C	ENSP00000236017:R31C	R	-	1	0	APH1A	148507744	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.551000	0.45820	2.586000	0.87340	0.561000	0.74099	CGC	APH1A	-	pfam_Aph-1		0.647	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150241120	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150241120	G	A	150241120	3	1	103	1	0	0	0	0	1	0	0	0	771	1058	37	1	745	1	APH1A	1	150241120	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4477525	150241120	99009501	22	15108										
TARS2	80222	genome.wustl.edu	37	chr1	150477452	150477452	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agcaagaggaatacgccaaaGaggtaaggagttgaggtaag	15	4	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:150477452G>C	ENST00000369064.3	+	16	1925	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	TARS2_ENST00000369054.2_Missense_Mutation_p.E501Q|TARS2_ENST00000606933.1_Missense_Mutation_p.E549Q	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	631					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATACGCCAAAGAGGTAAGGAG	0.582																																																	0													86	81	83					1																	150477452		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1891G>C	1.37:g.150477452G>C	ENSP00000358060:p.Glu631Gln		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.E631Q	ENST00000369064.3	37	c.1891	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	5.586	0.292889	0.10567	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.83335	-1.71;-1.71;-1.71	5.2	4.24	0.50183	Anticodon-binding (3);	0.130982	0.52532	N	0.000067	T	0.53594	0.1806	N	0.21240	0.645	0.80722	D	1	B;B;B	0.25667	0.131;0.059;0.019	B;B;B	0.24974	0.057;0.057;0.04	T	0.52719	-0.8538	10	0.21540	T	0.41	-21.7639	7.9208	0.29846	0.0863:0.2268:0.6869:0.0	.	501;356;631	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	Q	501;631;356;356	ENSP00000358050:E501Q;ENSP00000358060:E631Q;ENSP00000358047:E356Q	ENSP00000358047:E356Q	E	+	1	0	TARS2	148744076	0.129000	0.22400	0.996000	0.52242	0.056000	0.15407	0.473000	0.22132	1.292000	0.44672	0.655000	0.94253	GAG	TARS2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.582	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	G	NM_025150		150477452	1	no_errors	ENST00000369064	ensembl	human	known	70_37	missense	SNP	0.985	C	C	150477452	G	C	150477452	3	2	103	1	0	0	0	0	1	0	0	0	15590	943	33	1	1953	1	TARS2	1	150477452	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	236332	150477452	98773169	23	15109										
HRNR	388697	genome.wustl.edu	37	chr1	152192729	152192729	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	caaagccagaagagtagcctGaaccagacacatatgggcca	10	11	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:152192729G>C	ENST00000368801.2	-	3	1451	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	459					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S459*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGTAGCCTGAACCAGACAC	0.592																																																	1	Substitution - Nonsense(1)	liver(1)											172	172	172					1																	152192729		2203	4300	6503	SO:0001587	stop_gained	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1376C>G	1.37:g.152192729G>C	ENSP00000357791:p.Ser459*		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S459*	ENST00000368801.2	37	c.1376	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306590	0.81247	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	9.7445	0.40437	0.0:0.0:1.0:0.0	.	.	.	.	X	459	.	ENSP00000357791:S459X	S	-	2	0	HRNR	150459353	0.009000	0.17119	0.004000	0.12327	0.002000	0.02628	1.001000	0.29783	1.697000	0.51169	0.597000	0.82753	TCA	HRNR	-	NULL		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	G	XM_373868		152192729	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	nonsense	SNP	0.011	C	C	152192729	G	C	152192729	4	2	103	1	0	0	0	0	0	1	0	0	7379	1294	45	1	7180	1	HRNR	1	152192729	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1715277	152192729	97057892	24	15110										
ASH1L	55870	genome.wustl.edu	37	chr1	155448847	155448847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctggggatatttctttttccGttttcgtttctgccttttca	7	9	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:155448847G>A	ENST00000368346.3	-	3	4453	c.3814C>T	c.(3814-3816)Cgg>Tgg	p.R1272W	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1272W			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1272					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTTTTTCCGTTTTCGTTTC	0.393																																																	0													151	162	158					1																	155448847		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3814C>T	1.37:g.155448847G>A	ENSP00000357330:p.Arg1272Trp		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R1272W	ENST00000368346.3	37	c.3814		1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100128	0.56183	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.93547	-3.24;-3.24	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	D	0.92990	0.7769	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93951	0.7232	10	0.87932	D	0	.	13.4275	0.61035	0.0:0.0:0.8056:0.1944	.	1272;1272	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	W	1272	ENSP00000357330:R1272W;ENSP00000376204:R1272W	ENSP00000357330:R1272W	R	-	1	2	ASH1L	153715471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.705000	0.92388	0.591000	0.81541	CGG	ASH1L	-	NULL		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	G	NM_018489		155448847	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155448847	G	A	155448847	3	1	103	1	0	0	0	0	1	0	0	0	1042	1144	40	2	5184	2	ASH1L	1	155448847	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3256118	155448847	93801774	25	15111										
CD1A	909	genome.wustl.edu	37	chr1	158227233	158227233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	catcacagttccgtgggcttCatcatcttggcggtgatagt	11	10	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:158227233C>G	ENST00000289429.5	+	5	1439	c.906C>G	c.(904-906)ttC>ttG	p.F302L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	302					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCGTGGGCTTCATCATCTTGG	0.458																																																	0													366	337	347					1																	158227233		2203	4300	6503	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.906C>G	1.37:g.158227233C>G	ENSP00000289429:p.Phe302Leu		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.F302L	ENST00000289429.5	37	c.906	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	-	0.050	-1.251965	0.01469	.	.	ENSG00000158477	ENST00000289429	T	0.01192	5.2	3.94	0.95	0.19572	MHC class I-like antigen recognition (1);	1.549700	0.04512	N	0.383037	T	0.00109	0.0003	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36720	-0.9736	10	0.02654	T	1	0.0197	7.1712	0.25719	0.0:0.3573:0.4606:0.1821	.	302	P06126	CD1A_HUMAN	L	302	ENSP00000289429:F302L	ENSP00000289429:F302L	F	+	3	2	CD1A	156493857	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.170000	0.16663	0.101000	0.17610	-0.205000	0.12727	TTC	CD1A	-	NULL		0.458	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	C	NM_001763		158227233	1	no_errors	ENST00000289429	ensembl	human	known	70_37	missense	SNP	0.003	G	G	158227233	C	G	158227233	3	3	103	1	0	0	0	0	1	0	0	0	2979	825	29	1	924	1	CD1A	1	158227233	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2778386	158227233	91023388	26	15112										
CRB1	23418	genome.wustl.edu	37	chr1	197297588	197297588	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaacaacaccaggtgcctctCaaattcttgccaaaacaatt	4	12	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:197297588C>G	ENST00000367400.3	+	2	242	c.107C>G	c.(106-108)tCa>tGa	p.S36*	CRB1_ENST00000367399.2_Nonsense_Mutation_p.S36*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.S36*|CRB1_ENST00000535699.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	36	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGTGCCTCTCAAATTCTTGC	0.308																																																	0													52	52	52					1																	197297588		2203	4300	6503	SO:0001587	stop_gained	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.107C>G	1.37:g.197297588C>G	ENSP00000356370:p.Ser36*		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S36*	ENST00000367400.3	37	c.107	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854240	0.71719	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	.	.	.	5.52	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	9.3355	0.38047	0.0:0.7828:0.0:0.2172	.	.	.	.	X	36	.	ENSP00000356369:S36X	S	+	2	0	CRB1	195564211	0.844000	0.29557	0.271000	0.24616	0.948000	0.59901	2.920000	0.48844	0.805000	0.34159	0.655000	0.94253	TCA	CRB1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.308	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	C	NM_201253		197297588	1	no_errors	ENST00000367400	ensembl	human	known	70_37	nonsense	SNP	0.849	G	G	197297588	C	G	197297588	4	3	103	1	0	0	0	0	0	1	0	0	3853	838	29	1	113	1	CRB1	1	197297588	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	39070355	197297588	51953033	27	15113										
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200827096	200827096	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	catacccgctaaaactttatCtgccagtgttgatgcaatta	6	10	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:200827096C>G	ENST00000236925.4	+	18	4428	c.4379C>G	c.(4378-4380)tCt>tGt	p.S1460C	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.S1449C|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S1433C			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1460	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AAAACTTTATCTGCCAGTGTT	0.378																																																	0													89	98	95					1																	200827096		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4379C>G	1.37:g.200827096C>G	ENSP00000236925:p.Ser1460Cys		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S1460C	ENST00000236925.4	37	c.4379		1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728730	0.69074	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.34472	1.37;1.36;1.39	5.34	5.34	0.76211	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.71915	-0.4448	10	0.87932	D	0	-22.4974	19.4015	0.94632	0.0:1.0:0.0:0.0	.	1433;1460;1449	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	C	1449;1433;1460	ENSP00000351684:S1449C;ENSP00000416800:S1433C;ENSP00000236925:S1460C	ENSP00000236925:S1460C	S	+	2	0	CAMSAP1L1	199093719	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.760000	0.85248	2.659000	0.90383	0.563000	0.77884	TCT	CAMSAP2	-	pfam_CKK_domain,superfamily_PRC_barrell-like		0.378	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200827096	1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	G	G	200827096	C	G	200827096	3	3	103	1	0	0	0	0	1	0	0	0	2617	913	32	1	4412	1	CAMSAP1L1	1	200827096	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	3529508	200827096	48423525	28	15114										
CHI3L1	1116	genome.wustl.edu	37	chr1	203152837	203152837	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccaggcaaggtccagcccatCaaagccatgggtgcgcagaa	12	13	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:203152837C>G	ENST00000255409.3	-	5	522	c.397G>C	c.(397-399)Gat>Cat	p.D133H		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	133					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TCCAGCCCATCAAAGCCATGG	0.542																																																	0													135	108	117					1																	203152837		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.397G>C	1.37:g.203152837C>G	ENSP00000255409:p.Asp133His		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.D133H	ENST00000255409.3	37	c.397	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448579	0.84101	.	.	ENSG00000133048	ENST00000255409	T	0.21932	1.98	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000016	T	0.57946	0.2088	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67894	-0.5552	10	0.87932	D	0	-24.2893	17.3057	0.87194	0.0:1.0:0.0:0.0	.	133	P36222	CH3L1_HUMAN	H	133	ENSP00000255409:D133H	ENSP00000255409:D133H	D	-	1	0	CHI3L1	201419460	1.000000	0.71417	0.992000	0.48379	0.734000	0.41952	5.375000	0.66173	2.664000	0.90586	0.655000	0.94253	GAT	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.542	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	C	NM_001276		203152837	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	1.000	G	G	203152837	C	G	203152837	3	3	103	1	0	0	0	0	1	0	0	0	3345	826	29	1	778	1	CHI3L1	1	203152837	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2325741	203152837	46097784	29	15115										
OBSCN	84033	genome.wustl.edu	37	chr1	228553871	228553871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgagggcgacccacagccctCggtgacctggtacaaggtag	14	12	0	2	rs371696980		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:228553871C>T	ENST00000422127.1	+	83	19204	c.19160C>T	c.(19159-19161)tCg>tTg	p.S6387L	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4021L|OBSCN_ENST00000570156.2_Missense_Mutation_p.S7344L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6387	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACAGCCCTCGGTGACCTGG	0.647																																																	0								C	LEU/SER	0,4122		0,0,2061	63	68	66		19160	-1.2	0	1		66	1,8361		0,1,4180	no	missense	OBSCN	NM_001098623.1	145	0,1,6241	TT,TC,CC		0.012,0.0,0.0080	benign	6387/7969	228553871	1,12483	2061	4181	6242	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19160C>T	1.37:g.228553871C>T	ENSP00000409493:p.Ser6387Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S6387L	ENST00000422127.1	37	c.19160	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766448	0.31228	0.0	1.2E-4	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.69435	-0.4;-0.4	5.41	-1.2	0.09554	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47801	0.1465	N	0.20530	0.585	0.09310	N	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.29852	-0.9998	9	0.36615	T	0.2	.	10.5299	0.44971	0.0:0.5131:0.0:0.4869	.	6387	Q5VST9	OBSCN_HUMAN	L	6387;4021	ENSP00000409493:S6387L;ENSP00000355668:S4021L	ENSP00000355668:S4021L	S	+	2	0	OBSCN	226620494	0.000000	0.05858	0.047000	0.18901	0.137000	0.21094	-0.292000	0.08332	-0.215000	0.10063	0.313000	0.20887	TCG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228553871	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.003	T	T	228553871	C	T	228553871	3	4	103	1	0	0	0	0	1	0	0	0	10836	893	31	1	20696	1	OBSCN	1	228553871	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	25401034	228553871	20696750	30	15116										
OR2T34	127068	genome.wustl.edu	37	chr1	248737384	248737384	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgtggatgagatgcaggatGagggtgtatgagctggagat	18	3	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:248737384G>A	ENST00000328782.2	-	1	696	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGCAGGATGAGGGTGTATG	0.562																																																	0													133	151	145					1																	248737384		2174	4300	6474	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.675C>T	1.37:g.248737384G>A			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L225	ENST00000328782.2	37	c.675	CCDS31120.1	1																																																																																			OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	G	NM_001001821		248737384	-1	no_errors	ENST00000328782	ensembl	human	known	70_37	silent	SNP	0.000	A	A	248737384	G	A	248737384	2	1	103	1	0	0	0	0	0	0	0	1	11049	1277	45	1		1	OR2T34	1	248737384	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	20183513	248737384	513237	31	15117										
LPIN1	23175	genome.wustl.edu	37	chr2	11945248	11945248	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgggaaggattggacccatCagggcatcgctaagctgtac	13	9	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:11945248C>T	ENST00000256720.2	+	16	2200	c.2107C>T	c.(2107-2109)Cag>Tag	p.Q703*	LPIN1_ENST00000396097.1_Nonsense_Mutation_p.Q433*|LPIN1_ENST00000404113.2_Nonsense_Mutation_p.Q204*|LPIN1_ENST00000396099.1_Nonsense_Mutation_p.Q745*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.Q788*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.Q709*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	703	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTGGACCCATCAGGGCATCGC	0.468																																																	0													118	104	109					2																	11945248		2203	4300	6503	SO:0001587	stop_gained	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2107C>T	2.37:g.11945248C>T	ENSP00000256720:p.Gln703*		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Nonsense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.Q788*	ENST00000256720.2	37	c.2362	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.797545	0.99267	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.5488	18.9934	0.92803	0.0:1.0:0.0:0.0	.	.	.	.	X	788;745;709;703;433;204	.	ENSP00000256720:Q703X	Q	+	1	0	LPIN1	11862699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.340000	0.79292	2.569000	0.86673	0.563000	0.77884	CAG	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.468	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	C	NM_145693		11945248	1	no_errors	ENST00000449576	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	11945248	C	T	11945248	4	4	103	1	0	0	0	0	0	1	0	0	8941	827	29	1	2165	1	LPIN1	2	11945248	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		11945248	231254125	32	15118										
FAM82A1	151393	genome.wustl.edu	37	chr2	38208440	38208440	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttcaggaaaaactttaagtGaaagagctattaatagagca	8	4	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:38208440G>A	ENST00000406384.1	+	5	939	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RMDN2_ENST00000417700.2_Missense_Mutation_p.E104K|RMDN2_ENST00000354545.2_Missense_Mutation_p.E249K|RMDN2_ENST00000407257.1_Missense_Mutation_p.E427K|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.E427K	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	249						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AACTTTAAGTGAAAGAGCTAT	0.333																																																	0													94	99	98					2																	38208440		2203	4300	6503	SO:0001583	missense	151393			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.745G>A	2.37:g.38208440G>A	ENSP00000386004:p.Glu249Lys		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.E427K	ENST00000406384.1	37	c.1279	CCDS54351.1	2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553022	0.45487	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.32	5.32	0.75619	.	0.133396	0.49916	D	0.000121	T	0.33323	0.0859	L	0.31476	0.935	0.43657	D	0.996071	B;P;D;P	0.57899	0.071;0.89;0.981;0.89	B;P;P;P	0.52554	0.12;0.472;0.702;0.602	T	0.01149	-1.1436	10	0.33940	T	0.23	-9.8647	14.3654	0.66803	0.0:0.0:1.0:0.0	.	427;104;249;104	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	K	249;249;427;104;427;104	ENSP00000346549:E249K;ENSP00000386004:E249K;ENSP00000385049:E427K;ENSP00000392977:E104K;ENSP00000234195:E427K;ENSP00000416367:E104K	ENSP00000234195:E427K	E	+	1	0	FAM82A1	38061944	1.000000	0.71417	0.982000	0.44146	0.528000	0.34623	4.746000	0.62133	2.769000	0.95229	0.491000	0.48974	GAA	FAM82A1	-	NULL		0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	G	NM_144713		38208440	1	no_errors	ENST00000234195	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38208440	G	A	38208440	3	1	103	1	0	0	0	0	1	0	0	0	5648	1291	45	1	1753	1	FAM82A1	2	38208440	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	26263192	38208440	204990933	33	15119										
SOS1	6654	genome.wustl.edu	37	chr2	39224138	39224138	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agataatctgtaaattccttCtccatgctatttcccatcgg	5	11	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:39224138C>T	ENST00000426016.1	-	20	3092	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E	SOS1_ENST00000395038.2_Silent_p.E1002E|SOS1_ENST00000402219.2_Silent_p.E1002E			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1002	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAATTCCTTCTCCATGCTAT	0.299									Noonan syndrome																																								0													82	86	85					2																	39224138		2203	4299	6502	SO:0001819	synonymous_variant	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3006G>A	2.37:g.39224138C>T			A8K2G3|B4DXG2	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E1002	ENST00000426016.1	37	c.3006	CCDS1802.1	2																																																																																			SOS1	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.299	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39224138	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	silent	SNP	0.994	T	T	39224138	C	T	39224138	2	4	103	1	0	0	0	0	0	0	0	1	14966	912	32	1		1	SOS1	2	39224138	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1015698	39224138	203975235	34	15120										
CCDC88A	55704	genome.wustl.edu	37	chr2	55544930	55544930	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tggattaggagttgggcattCtggttcatgagtgaggtact	15	4	2	2	rs371217296		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:55544930C>G	ENST00000436346.1	-	20	4213	c.3372G>C	c.(3370-3372)caG>caC	p.Q1124H	CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1124H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1123H|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1123H|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1124					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGGGCATTCTGGTTCATGA	0.343																																																	0													136	139	138					2																	55544930		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3372G>C	2.37:g.55544930C>G	ENSP00000410608:p.Gln1124His		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.Q1124H	ENST00000436346.1	37	c.3372		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.948242|3.948242	0.73787|0.73787	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;D;T;T	.|0.83250	.|2.14;2.35;2.36;-1.7;2.16;1.14	6.02|6.02	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.45867	.|U	.|0.000338	D|D	0.89901|0.89901	0.6849|0.6849	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.89917	.|0.989;0.998;0.999;1.0;0.849;0.999	.|P;D;D;D;P;D	.|0.83275	.|0.841;0.996;0.965;0.995;0.554;0.976	D|D	0.90681|0.90681	0.4605|0.4605	5|10	.|0.62326	.|D	.|0.03	-11.3252|-11.3252	15.2102|15.2102	0.73219|0.73219	0.0:0.9328:0.0:0.0672|0.0:0.9328:0.0:0.0672	.|.	.|1123;1124;1069;1124;1123;1123	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	Q|H	105|1123;1124;1124;169;1123;299	.|ENSP00000338728:Q1123H;ENSP00000263630:Q1124H;ENSP00000410608:Q1124H;ENSP00000390012:Q169H;ENSP00000404431:Q1123H;ENSP00000405080:Q299H	.|ENSP00000263630:Q1124H	E|Q	-|-	1|3	0|2	CCDC88A|CCDC88A	55398434|55398434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.393000|2.393000	0.44442|0.44442	1.548000|1.548000	0.49413|0.49413	0.650000|0.650000	0.86243|0.86243	GAA|CAG	CCDC88A	-	NULL		0.343	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55544930	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55544930	C	G	55544930	3	3	103	1	0	0	0	0	1	0	0	0	2868	912	32	1	2295	1	CCDC88A	2	55544930	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	16320792	55544930	187654443	35	15121										
PUS10	150962	genome.wustl.edu	37	chr2	61236108	61236108	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aacttccaaaattaattcatCtttttcagtttccagaaatt	2	8	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:61236108C>G	ENST00000316752.6	-	3	430	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PUS10_ENST00000407787.1_Missense_Mutation_p.D57H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	57					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATTAATTCATCTTTTTCAGTT	0.358																																																	0													46	46	46					2																	61236108		2203	4300	6503	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.169G>C	2.37:g.61236108C>G	ENSP00000326003:p.Asp57His		Q5JPJ5|Q96MI8	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom	p.D57H	ENST00000316752.6	37	c.169	CCDS1865.1	2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101447	0.37048	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319	.	.	.	5.62	2.77	0.32553	.	0.729179	0.13877	N	0.356580	T	0.53254	0.1785	L	0.55481	1.735	0.80722	D	1	B	0.29590	0.25	B	0.37047	0.24	T	0.47142	-0.9140	9	0.38643	T	0.18	-23.0435	7.2562	0.26177	0.0:0.6924:0.1451:0.1626	.	57	Q3MIT2	PUS10_HUMAN	H	57	.	ENSP00000326003:D57H	D	-	1	0	PUS10	61089612	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.080000	0.30779	0.709000	0.31976	0.591000	0.81541	GAT	PUS10	-	NULL		0.358	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	C	NM_144709		61236108	-1	no_errors	ENST00000316752	ensembl	human	known	70_37	missense	SNP	0.996	G	G	61236108	C	G	61236108	3	3	103	1	0	0	0	0	1	0	0	0	12861	913	32	1	1484	1	PUS10	2	61236108	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5691178	61236108	181963265	36	15122										
TCF7L1	83439	genome.wustl.edu	37	chr2	85529687	85529687	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acctacagcaatgaccacttCtcccccggctcccctcccac	4	22	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:85529687C>G	ENST00000282111.3	+	5	881	c.606C>G	c.(604-606)ttC>ttG	p.F202L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	202	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ATGACCACTTCTCCCCCGGCT	0.562																																																	0													101	102	102					2																	85529687		2203	4300	6503	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.606C>G	2.37:g.85529687C>G	ENSP00000282111:p.Phe202Leu		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.F202L	ENST00000282111.3	37	c.606	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790421	0.50102	.	.	ENSG00000152284	ENST00000282111	D	0.98947	-5.26	4.53	1.69	0.24217	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	M	0.77103	2.36	0.34489	D	0.704727	B	0.28128	0.201	B	0.31245	0.126	D	0.97027	0.9747	10	0.41790	T	0.15	.	8.4826	0.33052	0.0:0.7264:0.0:0.2736	.	202	Q9HCS4	TF7L1_HUMAN	L	202	ENSP00000282111:F202L	ENSP00000282111:F202L	F	+	3	2	TCF7L1	85383198	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	2.431000	0.44775	0.529000	0.28599	-0.136000	0.14681	TTC	TCF7L1	-	pfam_CTNNB1-bd_N		0.562	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	C	NM_031283		85529687	1	no_errors	ENST00000282111	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85529687	C	G	85529687	3	3	103	1	0	0	0	0	1	0	0	0	15727	912	32	1	624	1	TCF7L1	2	85529687	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	24293579	85529687	157669686	37	15123										
TBC1D8	11138	genome.wustl.edu	37	chr2	101645967	101645967	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcccacctgctgaggatcatCaaggcctggccatcatcctt	9	15	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:101645967C>G	ENST00000376840.4	-	12	2162	c.2163G>C	c.(2161-2163)ttG>ttC	p.L721F	TBC1D8_ENST00000409318.1_Missense_Mutation_p.L736F			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	721					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGAGGATCATCAAGGCCTGGC	0.587																																																	0													47	49	48					2																	101645967		2099	4231	6330	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2163G>C	2.37:g.101645967C>G	ENSP00000366036:p.Leu721Phe		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L736F	ENST00000376840.4	37	c.2208	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158687	0.38119	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.30714	1.52;1.52	5.64	2.79	0.32731	Rab-GAP/TBC domain (1);	0.128712	0.32624	N	0.005843	T	0.31765	0.0807	L	0.51422	1.61	0.40897	D	0.984126	B	0.17465	0.022	B	0.20577	0.03	T	0.13764	-1.0497	10	0.49607	T	0.09	-12.0521	17.2508	0.87042	0.0:0.5266:0.4733:0.0	.	721	O95759	TBCD8_HUMAN	F	721;736	ENSP00000366036:L721F;ENSP00000386856:L736F	ENSP00000366036:L721F	L	-	3	2	TBC1D8	101012399	0.998000	0.40836	0.899000	0.35326	0.993000	0.82548	0.505000	0.22642	0.283000	0.22279	0.655000	0.94253	TTG	TBC1D8	-	superfamily_Rab-GTPase-TBC_dom		0.587	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	C	NM_007063		101645967	-1	no_errors	ENST00000409318	ensembl	human	known	70_37	missense	SNP	0.999	G	G	101645967	C	G	101645967	3	3	103	1	0	0	0	0	1	0	0	0	15655	825	29	1	1295	1	TBC1D8	2	101645967	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	16116280	101645967	141553406	38	15124										
GAD1	2571	genome.wustl.edu	37	chr2	171675139	171675139	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atcttcgtccgcaacctcctCgaacgcgggagcggacccca	10	17	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:171675139C>G	ENST00000358196.3	+	2	588	c.38C>G	c.(37-39)tCg>tGg	p.S13W	AC007405.8_ENST00000451730.1_RNA|GAD1_ENST00000429023.1_3'UTR|AC007405.8_ENST00000455988.1_RNA|GAD1_ENST00000375272.1_Missense_Mutation_p.S13W|AC007405.8_ENST00000418106.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.S13W	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	13					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GCAACCTCCTCGAACGCGGGA	0.617																																																	0													80	81	80					2																	171675139		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.38C>G	2.37:g.171675139C>G	ENSP00000350928:p.Ser13Trp		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S13W	ENST00000358196.3	37	c.38	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050836	0.55218	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;D;T;T;T;T;T	0.88741	-1.36;-2.42;2.24;0.33;0.33;-1.36;-1.26	5.77	5.77	0.91146	.	0.247105	0.33005	N	0.005398	D	0.89921	0.6855	L	0.50333	1.59	0.52501	D	0.999956	P;D	0.60160	0.832;0.987	B;P	0.51974	0.257;0.686	D	0.90679	0.4604	10	0.87932	D	0	-1.4617	14.7945	0.69868	0.1441:0.8559:0.0:0.0	.	13;13	Q99259;Q99259-3	DCE1_HUMAN;.	W	13	ENSP00000402366:S13W;ENSP00000394948:S13W;ENSP00000350928:S13W;ENSP00000364421:S13W;ENSP00000341167:S13W;ENSP00000405917:S13W;ENSP00000394255:S13W	ENSP00000341167:S13W	S	+	2	0	GAD1	171383385	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.545000	0.60698	2.724000	0.93272	0.561000	0.74099	TCG	GAD1	-	NULL		0.617	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	C			171675139	1	no_errors	ENST00000358196	ensembl	human	known	70_37	missense	SNP	1.000	G	G	171675139	C	G	171675139	3	3	103	1	0	0	0	0	1	0	0	0	6197	893	31	1	40	1	GAD1	2	171675139	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	70029172	171675139	71524234	39	15125										
TTN	7273	genome.wustl.edu	37	chr2	179410173	179410173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgggctcactgttaccagcTgcattcactgcggtcacccg	10	15	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:179410173T>C	ENST00000591111.1	-	294	90965	c.90741A>G	c.(90739-90741)gcA>gcG	p.A30247A	TTN_ENST00000460472.2_Silent_p.A22823A|TTN_ENST00000359218.5_Silent_p.A22948A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A31888A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.A29320A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.A23015A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30247	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTACCAGCTGCATTCACTG	0.478																																																	0													160	161	161					2																	179410173		2019	4175	6194	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90741A>G	2.37:g.179410173T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A29320	ENST00000591111.1	37	c.87960		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179410173	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	C	C	179410173	T	C	179410173	2	2	103	1	0	0	0	0	0	0	0	1	16766	1567	55	5		5	TTN	2	179410173	Silent	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	7735034	179410173	63789200	40	15126										
STAT4	6775	genome.wustl.edu	37	chr2	191922763	191922763	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccaaatgtcgaaattctactGagagactcccattggaagat	8	9	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:191922763G>C	ENST00000392320.2	-	13	1501	c.1187C>G	c.(1186-1188)tCa>tGa	p.S396*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.S396*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	396					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAATTCTACTGAGAGACTCCC	0.358																																																	0													83	83	83					2																	191922763		2203	4300	6503	SO:0001587	stop_gained	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1187C>G	2.37:g.191922763G>C	ENSP00000376134:p.Ser396*		Q96NZ6	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.S396*	ENST00000392320.2	37	c.1187	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.221380	0.98712	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-47.7257	19.5078	0.95127	0.0:0.0:1.0:0.0	.	.	.	.	X	396	.	ENSP00000351255:S396X	S	-	2	0	STAT4	191631008	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	9.061000	0.93913	2.694000	0.91930	0.585000	0.79938	TCA	STAT4	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.358	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	G	NM_003151		191922763	-1	no_errors	ENST00000358470	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	191922763	G	C	191922763	4	2	103	1	0	0	0	0	0	1	0	0	15297	1294	45	1	1107	1	STAT4	2	191922763	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	12512590	191922763	51276610	41	15127										
FAM119A	151194	genome.wustl.edu	37	chr2	208477923	208477923	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	attcggcatgctaaaagaatCacagagtgattgctacagag	10	7	1	4	rs548492945		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:208477923C>T	ENST00000411432.1	-	4	720	c.504G>A	c.(502-504)gtG>gtA	p.V168V	METTL21A_ENST00000426075.1_Silent_p.V168V|METTL21A_ENST00000272839.3_Silent_p.V186V|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000406927.2_Silent_p.V168V|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448007.2_Silent_p.V168V|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000442521.1_Silent_p.V168V|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	168					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTAAAAGAATCACAGAGTGAT	0.393																																																	0													144	145	145					2																	208477923		2203	4300	6503	SO:0001819	synonymous_variant	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.504G>A	2.37:g.208477923C>T			Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.V168	ENST00000411432.1	37	c.504	CCDS2376.1	2																																																																																			METTL21A	-	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA		0.393	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21A	HGNC	protein_coding	OTTHUMT00000337044.1	C	NM_145280		208477923	-1	no_errors	ENST00000406927	ensembl	human	known	70_37	silent	SNP	0.994	T	T	208477923	C	T	208477923	2	4	103	1	0	0	0	0	0	0	0	1	5428	813	29	1		1	FAM119A	2	208477923	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	16555160	208477923	34721450	42	15128										
CRYGD	1421	genome.wustl.edu	37	chr2	208986568	208986568	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgagggagtggatttcattGaagcggaagcggtcctgaag	16	5	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:208986568G>A	ENST00000264376.4	-	3	381	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	118	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGATTTCATTGAAGCGGAAGC	0.552																																																	0													120	115	117					2																	208986568		2203	4300	6503	SO:0001819	synonymous_variant	1421				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.354C>T	2.37:g.208986568G>A			Q17RF7|Q53R51|Q99681	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.F118	ENST00000264376.4	37	c.354	CCDS2378.1	2																																																																																			CRYGD	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.552	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGD	HGNC	protein_coding	OTTHUMT00000256476.2	G	NM_006891		208986568	-1	no_errors	ENST00000264376	ensembl	human	known	70_37	silent	SNP	0.000	A	A	208986568	G	A	208986568	2	1	103	1	0	0	0	0	0	0	0	1	3922	1281	45	1		1	CRYGD	2	208986568	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	508645	208986568	34212805	43	15129										
MAP2	4133	genome.wustl.edu	37	chr2	210517948	210517948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctcactggacctcagcaccGctaacagaggcatctgcaca	8	16	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:210517948G>A	ENST00000360351.4	+	4	560	c.54G>A	c.(52-54)ccG>ccA	p.P18P	MAP2_ENST00000392194.1_Silent_p.P18P|MAP2_ENST00000199940.6_Silent_p.P18P|MAP2_ENST00000361559.4_Silent_p.P18P|MAP2_ENST00000447185.1_Silent_p.P18P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	18					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P18P(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCTCAGCACCGCTAACAGAGG	0.493																																					Pancreas(27;423 979 28787 29963)												2	Substitution - coding silent(2)	endometrium(2)											95	68	77					2																	210517948		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.54G>A	2.37:g.210517948G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.P18	ENST00000360351.4	37	c.54	CCDS2384.1	2																																																																																			MAP2	-	NULL		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210517948	1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	0.012	A	A	210517948	G	A	210517948	2	1	103	1	0	0	0	0	0	0	0	1	9258	1074	38	2		2	MAP2	2	210517948	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1531380	210517948	32681425	44	15130										
MARCH4	57574	genome.wustl.edu	37	chr2	217234646	217234646	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccagtcatcttccacagaaGaaggtggcaaggggggtgga	15	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:217234646G>A	ENST00000273067.4	-	1	2104	c.338C>T	c.(337-339)tCt>tTt	p.S113F		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	113	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTCCACAGAAGAAGGTGGCAA	0.672																																																	0													17	17	17					2																	217234646		2203	4300	6503	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.338C>T	2.37:g.217234646G>A	ENSP00000273067:p.Ser113Phe		Q4KMN7|Q86WR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S113F	ENST00000273067.4	37	c.338	CCDS33376.1	2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857345	0.51376	.	.	ENSG00000144583	ENST00000273067	T	0.16457	2.34	5.76	5.76	0.90799	.	0.796847	0.12086	N	0.500849	T	0.11623	0.0283	N	0.14661	0.345	0.28561	N	0.911101	P	0.39964	0.697	B	0.32864	0.154	T	0.12116	-1.0560	10	0.62326	D	0.03	-1.934	15.4456	0.75228	0.0:0.0:1.0:0.0	.	113	Q9P2E8	MARH4_HUMAN	F	113	ENSP00000273067:S113F	ENSP00000273067:S113F	S	-	2	0	MARCH4	216942891	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.452000	0.60054	2.717000	0.92951	0.585000	0.79938	TCT	MARCH4	-	NULL		0.672	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	G	NM_020814		217234646	-1	no_errors	ENST00000273067	ensembl	human	known	70_37	missense	SNP	1.000	A	A	217234646	G	A	217234646	3	1	103	1	0	0	0	0	1	0	0	0	9326	942	33	1	910	1	MARCH4	2	217234646	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6716698	217234646	25964727	45	15131										
PAX3	5077	genome.wustl.edu	37	chr2	223160330	223160330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgaacatgcccgggttctctCttttgtattcctcaattttc	6	11	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:223160330C>G	ENST00000350526.4	-	3	504	c.368G>C	c.(367-369)aGa>aCa	p.R123T	PAX3_ENST00000392069.2_Missense_Mutation_p.R123T|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000336840.6_Missense_Mutation_p.R123T|PAX3_ENST00000409828.3_Missense_Mutation_p.R123T|PAX3_ENST00000258387.5_Missense_Mutation_p.R123T|PAX3_ENST00000344493.4_Missense_Mutation_p.R123T|PAX3_ENST00000392070.2_Missense_Mutation_p.R123T|PAX3_ENST00000409551.3_Missense_Mutation_p.R122T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	123	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTTCTCTCTTTTGTATTC	0.542			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													138	128	132					2																	223160330		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.368G>C	2.37:g.223160330C>G	ENSP00000343052:p.Arg123Thr		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.R123T	ENST00000350526.4	37	c.368	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554145	0.65425	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95	5.71	5.71	0.89125	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.085531	0.85682	D	0.000000	D	0.99378	0.9781	M	0.90977	3.165	0.50313	D	0.999869	P;D;P;P;P;B;P	0.54047	0.634;0.964;0.946;0.52;0.741;0.288;0.607	B;P;B;B;B;B;B	0.48304	0.437;0.573;0.324;0.107;0.093;0.071;0.065	D	0.99768	1.1023	10	0.87932	D	0	.	19.474	0.94979	0.0:1.0:0.0:0.0	.	123;123;123;122;123;123;123	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	T	123;123;123;123;123;122;123;123	ENSP00000375921:R123T;ENSP00000342092:R123T;ENSP00000343052:R123T;ENSP00000375922:R123T;ENSP00000338767:R123T;ENSP00000386750:R122T;ENSP00000386817:R123T;ENSP00000258387:R123T	ENSP00000258387:R123T	R	-	2	0	PAX3	222868574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.795000	0.62489	2.694000	0.91930	0.655000	0.94253	AGA	PAX3	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	C			223160330	-1	no_errors	ENST00000392069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	223160330	C	G	223160330	3	3	103	1	0	0	0	0	1	0	0	0	11504	913	32	1	1310	1	PAX3	2	223160330	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5925684	223160330	20039043	46	15132										
PAX3	5077	genome.wustl.edu	37	chr2	223160343	223160343	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gttctctcttttgtattcctCaattttcttctccacgtcag	4	12	6	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:223160343C>T	ENST00000350526.4	-	3	491	c.355G>A	c.(355-357)Gag>Aag	p.E119K	PAX3_ENST00000392069.2_Missense_Mutation_p.E119K|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000336840.6_Missense_Mutation_p.E119K|PAX3_ENST00000409828.3_Missense_Mutation_p.E119K|PAX3_ENST00000258387.5_Missense_Mutation_p.E119K|PAX3_ENST00000344493.4_Missense_Mutation_p.E119K|PAX3_ENST00000392070.2_Missense_Mutation_p.E119K|PAX3_ENST00000409551.3_Missense_Mutation_p.E118K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	119	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTATTCCTCAATTTTCTTC	0.572			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													133	123	126					2																	223160343		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.355G>A	2.37:g.223160343C>T	ENSP00000343052:p.Glu119Lys		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.E119K	ENST00000350526.4	37	c.355	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942859	0.73672	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	5.71	5.71	0.89125	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.72118	2.19	0.58432	D	0.999999	B;B;B;B;B;B;B	0.31318	0.033;0.314;0.319;0.019;0.011;0.029;0.01	B;B;B;B;B;B;B	0.31245	0.085;0.126;0.03;0.017;0.003;0.025;0.004	D	0.98485	1.0607	10	0.49607	T	0.09	.	19.474	0.94979	0.0:1.0:0.0:0.0	.	119;119;119;118;119;119;119	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	K	119;119;119;119;119;118;119;119	ENSP00000375921:E119K;ENSP00000342092:E119K;ENSP00000343052:E119K;ENSP00000375922:E119K;ENSP00000338767:E119K;ENSP00000386750:E118K;ENSP00000386817:E119K;ENSP00000258387:E119K	ENSP00000258387:E119K	E	-	1	0	PAX3	222868587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.817000	0.69229	2.694000	0.91930	0.655000	0.94253	GAG	PAX3	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom		0.572	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	C			223160343	-1	no_errors	ENST00000392069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	223160343	C	T	223160343	3	4	103	1	0	0	0	0	1	0	0	0	11504	835	29	1	1323	1	PAX3	2	223160343	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	13	223160343	20039030	47	15133										
TRAF3IP1	26146	genome.wustl.edu	37	chr2	239306205	239306205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccctgtgcaagagcgcacttCccctggggaagatcatggac	12	13	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:239306205C>T	ENST00000373327.4	+	16	2017	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.P533S|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.P599S	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	599	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAGCGCACTTCCCCTGGGGAA	0.557																																																	0													99	92	94					2																	239306205		2203	4300	6503	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1795C>T	2.37:g.239306205C>T	ENSP00000362424:p.Pro599Ser		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	pfam_Microtubule/TRAF3/DISC1-bd	p.P599S	ENST00000373327.4	37	c.1795	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060661	0.76074	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.46451	0.87;0.87;0.87	5.36	5.36	0.76844	.	0.329934	0.36932	N	0.002340	T	0.67785	0.2930	M	0.85462	2.755	0.51012	D	0.9999	D;D	0.76494	0.995;0.999	D;D	0.79784	0.963;0.993	T	0.72779	-0.4190	10	0.66056	D	0.02	-21.3806	14.8582	0.70359	0.1526:0.8474:0.0:0.0	.	533;599	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	S	533;599;599;533	ENSP00000375851:P533S;ENSP00000362424:P599S;ENSP00000375852:P599S	ENSP00000362424:P599S	P	+	1	0	TRAF3IP1	238970944	0.974000	0.33945	0.947000	0.38551	0.982000	0.71751	3.618000	0.54188	2.514000	0.84764	0.655000	0.94253	CCC	TRAF3IP1	-	pfam_Microtubule/TRAF3/DISC1-bd		0.557	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	C	NM_015650		239306205	1	no_errors	ENST00000373327	ensembl	human	known	70_37	missense	SNP	0.930	T	T	239306205	C	T	239306205	3	4	103	1	0	0	0	0	1	0	0	0	16471	855	30	1	1857	1	TRAF3IP1	2	239306205	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	16145862	239306205	3893168	48	15134										
AGXT	189	genome.wustl.edu	37	chr2	241808657	241808657	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccactcacactggtcatctCtggctcgggacactgtgccc	9	17	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:241808657C>G	ENST00000307503.3	+	2	623	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	79					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CTGGTCATCTCTGGCTCGGGA	0.607																																																	0													149	121	130					2																	241808657		2203	4300	6503	SO:0001583	missense	189			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.236C>G	2.37:g.241808657C>G	ENSP00000302620:p.Ser79Cys		Q53QU6	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S79C	ENST00000307503.3	37	c.236	CCDS2543.1	2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587706	0.28268	.	.	ENSG00000172482	ENST00000307503	D	0.89415	-2.51	4.27	2.26	0.28386	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.174321	0.64402	D	0.000009	D	0.92948	0.7756	M	0.90595	3.13	0.58432	D	0.999999	P;P	0.38617	0.64;0.632	P;P	0.48571	0.467;0.582	D	0.93787	0.7089	10	0.66056	D	0.02	-20.9273	13.7864	0.63112	0.0:0.2983:0.7017:0.0	.	79;79	B7Z548;P21549	.;SPYA_HUMAN	C	79	ENSP00000302620:S79C	ENSP00000302620:S79C	S	+	2	0	AGXT	241457330	1.000000	0.71417	0.955000	0.39395	0.329000	0.28539	6.014000	0.70784	0.913000	0.36797	-0.226000	0.12346	TCT	AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.607	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	C	NM_000030		241808657	1	no_errors	ENST00000307503	ensembl	human	known	70_37	missense	SNP	1.000	G	G	241808657	C	G	241808657	3	3	103	1	0	0	0	0	1	0	0	0	404	913	32	1	242	1	AGXT	2	241808657	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2502452	241808657	1390716	49	15135										
CHL1	10752	genome.wustl.edu	37	chr3	425540	425540	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acataagggttcaagcctctCaacccaaggaaatgattata	7	9	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:425540C>G	ENST00000256509.2	+	19	2860	c.2218C>G	c.(2218-2220)Caa>Gaa	p.Q740E	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.Q724E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCAAGCCTCTCAACCCAAGGA	0.343																																																	0													145	145	145					3																	425540		2203	4299	6502	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2218C>G	3.37:g.425540C>G	ENSP00000256509:p.Gln740Glu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q740E	ENST00000256509.2	37	c.2218	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025536	0.02061	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56941	0.43;0.43	4.67	3.72	0.42706	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.321670	0.30193	N	0.010191	T	0.16727	0.0402	N	0.00823	-1.155	0.27425	N	0.954177	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.15484	0.013;0.013;0.01	T	0.28870	-1.0030	10	0.02654	T	1	.	8.4096	0.32636	0.1345:0.5229:0.3427:0.0	.	724;724;740	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	E	740;724	ENSP00000256509:Q740E;ENSP00000380628:Q724E	ENSP00000256509:Q740E	Q	+	1	0	CHL1	400540	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	1.142000	0.31540	2.295000	0.77249	0.555000	0.69702	CAA	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.343	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	C	NM_006614		425540	1	no_errors	ENST00000256509	ensembl	human	known	70_37	missense	SNP	1.000	G	G	425540	C	G	425540	3	3	103	1	0	0	0	0	1	0	0	0	3354	827	29	1	2284	1	CHL1	3	425540	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		425540	197596890	50	15136										
SETMAR	6419	genome.wustl.edu	37	chr3	4358139	4358139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	accagttgagagcaatcatcGaagctgatccccttacaact	7	12	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:4358139G>A	ENST00000358065.4	+	3	1331	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	SETMAR_ENST00000425863.1_Missense_Mutation_p.E283K|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	422	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		agcaatcatcgaagctgatcc	0.453								Chromatin Structure																																									0													14	15	14					3																	4358139		2198	4297	6495	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1264G>A	3.37:g.4358139G>A	ENSP00000373354:p.Glu422Lys		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E422K	ENST00000358065.4	37	c.1264	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348149	0.24426	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.25414	1.8;1.8;1.8	0.235	0.235	0.15431	Transposase, Tc1-like (1);	0.504996	0.16252	U	0.222675	T	0.22282	0.0537	L	0.28400	0.85	0.09310	N	0.999994	B;P;P;B	0.48503	0.046;0.875;0.911;0.432	B;P;P;B	0.50231	0.053;0.572;0.635;0.144	T	0.10019	-1.0648	9	0.38643	T	0.18	.	.	.	.	.	166;283;409;167	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	K	422;283;186	ENSP00000373354:E422K;ENSP00000403145:E283K;ENSP00000369673:E186K	ENSP00000373354:E422K	E	+	1	0	SETMAR	4333139	0.687000	0.27671	0.435000	0.26784	0.439000	0.31926	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	GAA	SETMAR	-	pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like		0.453	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4358139	1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.525	A	A	4358139	G	A	4358139	3	1	103	1	0	0	0	0	1	0	0	0	14170	1059	37	1	1274	1	SETMAR	3	4358139	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3932599	4358139	193664291	51	15137										
ZNF860	344787	genome.wustl.edu	37	chr3	32030784	32030784	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atctcttccaaatgcatgatGaagaagttctcatcaacagc	6	10	3	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:32030784G>A	ENST00000360311.4	+	2	762	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AATGCATGATGAAGAAGTTCT	0.443																																																	0													85	69	73					3																	32030784		692	1591	2283	SO:0001583	missense	344787			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.213G>A	3.37:g.32030784G>A	ENSP00000373274:p.Met71Ile		B4DFA4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M71I	ENST00000360311.4	37	c.213	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.676151	0.00751	.	.	ENSG00000197385	ENST00000360311	T	0.04360	3.64	0.345	-0.691	0.11305	Krueppel-associated box (3);	.	.	.	.	T	0.02119	0.0066	N	0.05441	-0.05	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.48468	-0.9033	7	.	.	.	.	.	.	.	.	71	A6NHJ4	ZN860_HUMAN	I	71	ENSP00000373274:M71I	.	M	+	3	0	ZNF860	32005788	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.912000	0.04046	-0.519000	0.06444	-0.515000	0.04445	ATG	ZNF860	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.443	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	G			32030784	1	no_errors	ENST00000360311	ensembl	human	known	70_37	missense	SNP	0.090	A	A	32030784	G	A	32030784	3	1	103	1	0	0	0	0	1	0	0	0	18224	1290	45	1	215	1	ZNF860	3	32030784	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	27672645	32030784	165991646	52	15138										
CCR4	1233	genome.wustl.edu	37	chr3	32995016	32995016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccttgcaccaaagaaggcatCaaggcatttggggagctctt	11	10	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:32995016C>G	ENST00000330953.5	+	2	270	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	34					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						AAGAAGGCATCAAGGCATTTG	0.458																																																	0													173	163	166					3																	32995016		2203	4300	6503	SO:0001583	missense	1233			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.102C>G	3.37:g.32995016C>G	ENSP00000332659:p.Ile34Met		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.I34M	ENST00000330953.5	37	c.102	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989348	0.35131	.	.	ENSG00000183813	ENST00000330953	T	0.68331	-0.32	5.56	4.66	0.58398	.	0.637606	0.13883	N	0.356190	T	0.62514	0.2434	L	0.53671	1.685	0.25251	N	0.989675	B	0.14012	0.009	B	0.14023	0.01	T	0.57659	-0.7773	10	0.87932	D	0	.	11.873	0.52531	0.136:0.7328:0.1312:0.0	.	34	P51679	CCR4_HUMAN	M	34	ENSP00000332659:I34M	ENSP00000332659:I34M	I	+	3	3	CCR4	32970020	0.997000	0.39634	0.972000	0.41901	0.973000	0.67179	0.532000	0.23067	2.620000	0.88729	0.655000	0.94253	ATC	CCR4	-	prints_Chemokine_CCR4,prints_Chemokine_rcpt,prints_Chemokine_CXCR4		0.458	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	C			32995016	1	no_errors	ENST00000330953	ensembl	human	known	70_37	missense	SNP	0.955	G	G	32995016	C	G	32995016	3	3	103	1	0	0	0	0	1	0	0	0	2948	816	29	1	104	1	CCR4	3	32995016	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	964232	32995016	165027414	53	15139										
CXCR6	10663	genome.wustl.edu	37	chr3	45988864	45988864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtcagcctgaagtttcgaaaGaacttctggaaacttgtgaa	10	7	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:45988864G>C	ENST00000458629.1	+	1	2354	c.891G>C	c.(889-891)aaG>aaC	p.K297N	CXCR6_ENST00000304552.4_Missense_Mutation_p.K297N|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.K297N|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.K297N			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	297					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGTTTCGAAAGAACTTCTGGA	0.483																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)												0													110	99	103					3																	45988864		2203	4300	6503	SO:0001583	missense	10663			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.891G>C	3.37:g.45988864G>C	ENSP00000395704:p.Lys297Asn		O00575|Q9HCA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.K297N	ENST00000458629.1	37	c.891	CCDS2735.1	3	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159640	0.38119	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.83	2.86	0.33363	.	0.378699	0.31156	N	0.008153	T	0.24392	0.0591	L	0.45581	1.43	0.33879	D	0.635846	B	0.15930	0.015	B	0.11329	0.006	T	0.16867	-1.0388	10	0.20046	T	0.44	.	3.3351	0.07098	0.1497:0.1378:0.57:0.1424	.	297	O00574	CXCR6_HUMAN	N	297	ENSP00000396218:K297N;ENSP00000304414:K297N;ENSP00000395704:K297N;ENSP00000396886:K297N	ENSP00000304414:K297N	K	+	3	2	CXCR6	45963868	0.098000	0.21812	0.989000	0.46669	0.981000	0.71138	0.011000	0.13264	0.774000	0.33427	0.561000	0.74099	AAG	CXCR6	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt		0.483	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CXCR6	HGNC	protein_coding	OTTHUMT00000344395.1	G			45988864	1	no_errors	ENST00000304552	ensembl	human	known	70_37	missense	SNP	0.962	C	C	45988864	G	C	45988864	3	2	103	1	0	0	0	0	1	0	0	0	4100	933	33	1	893	1	CXCR6	3	45988864	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	12993848	45988864	152033566	54	15140										
NISCH	11188	genome.wustl.edu	37	chr3	52524094	52524094	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aggccccccgtcttcaggttGaaaacgaggagctgaggcac	13	12	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:52524094G>C	ENST00000479054.1	+	19	3532	c.3460G>C	c.(3460-3462)Gaa>Caa	p.E1154Q	NISCH_ENST00000345716.4_Missense_Mutation_p.E1154Q			Q9Y2I1	NISCH_HUMAN	nischarin	1154					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCTTCAGGTTGAAAACGAGGA	0.612																																																	0													68	55	59					3																	52524094		2203	4300	6503	SO:0001583	missense	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3460G>C	3.37:g.52524094G>C	ENSP00000418232:p.Glu1154Gln		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.E1154Q	ENST00000479054.1	37	c.3460	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016886	0.75161	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.14766	2.48;2.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	L	0.36672	1.1	0.49687	D	0.99981	D	0.71674	0.998	D	0.78314	0.991	T	0.02813	-1.1107	10	0.87932	D	0	-16.4259	18.6842	0.91558	0.0:0.0:1.0:0.0	.	1154	Q9Y2I1	NISCH_HUMAN	Q	1154;1154;498	ENSP00000418232:E1154Q;ENSP00000339958:E1154Q	ENSP00000339958:E1154Q	E	+	1	0	NISCH	52499134	1.000000	0.71417	0.983000	0.44433	0.522000	0.34438	8.666000	0.91149	2.432000	0.82394	0.561000	0.74099	GAA	NISCH	-	NULL		0.612	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52524094	1	no_errors	ENST00000345716	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52524094	G	C	52524094	3	2	103	1	0	0	0	0	1	0	0	0	10456	1291	45	1	3530	1	NISCH	3	52524094	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6535230	52524094	145498336	55	15141										
PBRM1	55193	genome.wustl.edu	37	chr3	52668757	52668757	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctaactgtgtcataaagctGataaaaaggatttgaaacat	7	6	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:52668757G>A	ENST00000296302.7	-	11	1163	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q356*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q388*			Q86U86	PB1_HUMAN	polybromo 1	388					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q388*(3)|p.Q356*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATAAAGCTGATAAAAAGGA	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(4)	kidney(4)											110	110	110					3																	52668757		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1162C>T	3.37:g.52668757G>A	ENSP00000296302:p.Gln388*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q388*	ENST00000296302.7	37	c.1162		3	.	.	.	.	.	.	.	.	.	.	G	38	6.767614	0.97825	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-31.5616	19.7907	0.96456	0.0:0.0:1.0:0.0	.	.	.	.	X	356;388;388;388;388;388;388;388;388;332	.	ENSP00000296302:Q388X	Q	-	1	0	PBRM1	52643797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.686000	0.91538	0.491000	0.48974	CAG	PBRM1	-	superfamily_Bromodomain,smart_Bromodomain		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	G	NM_018165		52668757	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52668757	G	A	52668757	4	1	103	1	0	0	0	0	0	1	0	0	11515	1299	45	1	3818	1	PBRM1	3	52668757	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	144663	52668757	145353673	56	15142										
PBRM1	55193	genome.wustl.edu	37	chr3	52668791	52668791	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaaacatccataaaggaagtGatgctttctgcttctgactc	8	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:52668791G>C	ENST00000296302.7	-	11	1129	c.1128C>G	c.(1126-1128)atC>atG	p.I376M	PBRM1_ENST00000409057.1_Missense_Mutation_p.I376M|PBRM1_ENST00000356770.4_Missense_Mutation_p.I344M|PBRM1_ENST00000337303.4_Missense_Mutation_p.I376M|PBRM1_ENST00000409114.3_Missense_Mutation_p.I376M|PBRM1_ENST00000394830.3_Missense_Mutation_p.I376M|PBRM1_ENST00000409767.1_Missense_Mutation_p.I376M|PBRM1_ENST00000410007.1_Missense_Mutation_p.I376M			Q86U86	PB1_HUMAN	polybromo 1	376					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAAAGGAAGTGATGCTTTCTG	0.388			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													94	92	93					3																	52668791		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1128C>G	3.37:g.52668791G>C	ENSP00000296302:p.Ile376Met		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I376M	ENST00000296302.7	37	c.1128		3	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972619	0.53614	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.34;1.39;1.34;1.35;1.34;1.81;1.34;1.35;1.35	5.78	1.09	0.20402	Bromodomain (1);	0.098880	0.64402	D	0.000002	T	0.20129	0.0484	N	0.24115	0.695	0.39543	D	0.968845	B;B;B;B;B;B;B;B;B	0.29988	0.138;0.053;0.264;0.138;0.047;0.053;0.085;0.053;0.112	B;B;B;B;B;B;B;B;B	0.17722	0.013;0.013;0.019;0.013;0.013;0.019;0.01;0.019;0.019	T	0.06607	-1.0817	10	0.33141	T	0.24	-16.0238	10.4213	0.44352	0.8368:0.0:0.1632:0.0	.	376;376;376;376;376;376;376;344;376	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	M	344;376;376;376;376;376;376;376;376;320	ENSP00000349213:I344M;ENSP00000378307:I376M;ENSP00000296302:I376M;ENSP00000338302:I376M;ENSP00000386593:I376M;ENSP00000386529:I376M;ENSP00000386643:I376M;ENSP00000386601:I376M;ENSP00000387775:I376M;ENSP00000397662:I320M	ENSP00000296302:I376M	I	-	3	3	PBRM1	52643831	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.931000	0.28871	-0.020000	0.14032	-0.258000	0.10820	ATC	PBRM1	-	superfamily_Bromodomain		0.388	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	G	NM_018165		52668791	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52668791	G	C	52668791	3	2	103	1	0	0	0	0	1	0	0	0	11515	1280	45	1	3852	1	PBRM1	3	52668791	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	34	52668791	145353639	57	15143										
NSUN3	63899	genome.wustl.edu	37	chr3	93813015	93813015	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgtaatgaatatgatagtctGagattgaggtggctaaggca	13	3	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:93813015G>C	ENST00000314622.4	+	4	709	c.498G>C	c.(496-498)ctG>ctC	p.L166L		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	166							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						ATGATAGTCTGAGATTGAGGT	0.338																																																	0													80	76	77					3																	93813015		2203	4300	6503	SO:0001819	synonymous_variant	63899			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.498G>C	3.37:g.93813015G>C			Q6PG41|Q8IXG9|Q9H6M2	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L166	ENST00000314622.4	37	c.498	CCDS2927.1	3																																																																																			NSUN3	-	pfam_Fmu/NOL1/Nop2p		0.338	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1	G	NM_022072		93813015	1	no_errors	ENST00000314622	ensembl	human	known	70_37	silent	SNP	1.000	C	C	93813015	G	C	93813015	2	2	103	1	0	0	0	0	0	0	0	1	10703	1277	45	1		1	NSUN3	3	93813015	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	41144224	93813015	104209415	58	15144										
SIDT1	54847	genome.wustl.edu	37	chr3	113345005	113345005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgcattctgctggatttcttCgatgaccatgacatctggca	9	10	3	2	rs150661858		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:113345005C>T	ENST00000264852.4	+	24	3090	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SIDT1_ENST00000393830.3_Silent_p.F793F|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	788					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGATTTCTTCGATGACCATG	0.488																																																	0													271	249	256					3																	113345005		2203	4300	6503	SO:0001819	synonymous_variant	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2364C>T	3.37:g.113345005C>T			Q17RR4	Silent	SNP	NULL	p.F793	ENST00000264852.4	37	c.2379	CCDS2974.1	3																																																																																			SIDT1	-	NULL		0.488	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	C	NM_017699		113345005	1	no_errors	ENST00000393830	ensembl	human	known	70_37	silent	SNP	0.999	T	T	113345005	C	T	113345005	2	4	103	1	0	0	0	0	0	0	0	1	14332	883	31	1		1	SIDT1	3	113345005	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	19531990	113345005	84677425	59	15145										
VEPH1	79674	genome.wustl.edu	37	chr3	157146182	157146182	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgttctggctgttccagctGagacatcaaggccaggagtt	12	10	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:157146182G>C	ENST00000362010.2	-	5	932	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.Q209E|VEPH1_ENST00000392832.2_Missense_Mutation_p.Q209E|VEPH1_ENST00000543418.1_Missense_Mutation_p.Q209E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	209						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGTTCCAGCTGAGACATCAAG	0.433																																																	0													196	177	184					3																	157146182		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.625C>G	3.37:g.157146182G>C	ENSP00000354919:p.Gln209Glu		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q209E	ENST00000362010.2	37	c.625	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090388	0.36855	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987	T;T;T;T;T	0.43294	1.3;1.3;1.3;1.3;0.95	5.57	4.67	0.58626	.	0.181068	0.51477	D	0.000100	T	0.35008	0.0917	L	0.46157	1.445	0.80722	D	1	B;B	0.19200	0.034;0.02	B;B	0.24394	0.053;0.024	T	0.09907	-1.0653	10	0.23891	T	0.37	-10.0022	10.8583	0.46812	0.0707:0.1313:0.798:0.0	.	209;209	Q14D04-2;Q14D04	.;MELT_HUMAN	E	209;209;209;209;97	ENSP00000376578:Q209E;ENSP00000354919:Q209E;ENSP00000446258:Q209E;ENSP00000376577:Q209E;ENSP00000418963:Q97E	ENSP00000354919:Q209E	Q	-	1	0	VEPH1	158628876	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.222000	0.51223	2.599000	0.87857	0.650000	0.86243	CAG	VEPH1	-	superfamily_ARM-type_fold		0.433	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	G	NM_024621		157146182	-1	no_errors	ENST00000362010	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157146182	G	C	157146182	3	2	103	1	0	0	0	0	1	0	0	0	17185	1299	45	1	1916	1	VEPH1	3	157146182	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	43801177	157146182	40876248	60	15146										
MYNN	55892	genome.wustl.edu	37	chr3	169496595	169496595	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	catcaggctgctgactatctCaaagtggaagaggtggtcac	12	9	3	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:169496595C>G	ENST00000349841.5	+	3	969	c.306C>G	c.(304-306)ctC>ctG	p.L102L	MYNN_ENST00000392733.1_Silent_p.L102L|MYNN_ENST00000356716.4_Silent_p.L102L|MYNN_ENST00000544106.1_Silent_p.L102L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTGACTATCTCAAAGTGGAAG	0.353																																																	0													94	102	100					3																	169496595		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.306C>G	3.37:g.169496595C>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L102	ENST00000349841.5	37	c.306	CCDS3207.1	3																																																																																			MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.353	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169496595	1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	1.000	G	G	169496595	C	G	169496595	2	3	103	1	0	0	0	0	0	0	0	1	10084	813	29	1		1	MYNN	3	169496595	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	12350413	169496595	28525835	61	15147										
TFRC	7037	genome.wustl.edu	37	chr3	195799011	195799011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcacgagggacatatgaattTtcattcagcagcctggagga	11	8	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:195799011T>C	ENST00000360110.4	-	5	616	c.447A>G	c.(445-447)gaA>gaG	p.E149E	TFRC_ENST00000420415.1_Silent_p.E68E|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Silent_p.E149E	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	149					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CATATGAATTTTCATTCAGCA	0.328			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0													67	67	67					3																	195799011		2203	4300	6503	SO:0001819	synonymous_variant	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.447A>G	3.37:g.195799011T>C			D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E149	ENST00000360110.4	37	c.447	CCDS3312.1	3																																																																																			TFRC	-	NULL		0.328	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	T			195799011	-1	no_errors	ENST00000360110	ensembl	human	known	70_37	silent	SNP	0.100	C	C	195799011	T	C	195799011	2	2	103	1	0	0	0	0	0	0	0	1	15842	1838	64	5		5	TFRC	3	195799011	Silent	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	26302416	195799011	2223419	62	15148										
SEL1L3	23231	genome.wustl.edu	37	chr4	25848925	25848925	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agatgacctaccattttccaGaggacactgtggaatcctgt	9	10	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:25848925G>A	ENST00000399878.3	-	2	846	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	SEL1L3_ENST00000264868.5_Silent_p.L207L|SEL1L3_ENST00000502949.1_Silent_p.L89L|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	242						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCATTTTCCAGAGGACACTGT	0.423																																																	0													89	82	84					4																	25848925		1888	4101	5989	SO:0001819	synonymous_variant	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.724C>T	4.37:g.25848925G>A			A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.L242	ENST00000399878.3	37	c.724	CCDS47037.1	4																																																																																			SEL1L3	-	NULL		0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	G	NM_015187		25848925	-1	no_errors	ENST00000399878	ensembl	human	known	70_37	silent	SNP	1.000	A	A	25848925	G	A	25848925	2	1	103	1	0	0	0	0	0	0	0	1	14042	933	33	1		1	SEL1L3	4	25848925	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		25848925	165305351	63	15149										
MTTP	4547	genome.wustl.edu	37	chr4	100534168	100534168	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gctggtatgtcagccatcctCtttgatgttcagctcagacc	9	12	4	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:100534168C>G	ENST00000265517.5	+	15	2291	c.2088C>G	c.(2086-2088)ctC>ctG	p.L696L	MTTP_ENST00000457717.1_Silent_p.L696L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.L723L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	696					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAGCCATCCTCTTTGATGTTC	0.502																																																	0													205	186	192					4																	100534168		2203	4300	6503	SO:0001819	synonymous_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2088C>G	4.37:g.100534168C>G			A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L696	ENST00000265517.5	37	c.2088	CCDS3651.1	4																																																																																			MTTP	-	NULL		0.502	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	C			100534168	1	no_errors	ENST00000265517	ensembl	human	known	70_37	silent	SNP	1.000	G	G	100534168	C	G	100534168	2	3	103	1	0	0	0	0	0	0	0	1	9987	900	32	1		1	MTTP	4	100534168	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	74685243	100534168	90620108	64	15150										
CFI	3426	genome.wustl.edu	37	chr4	110678930	110678930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaattttaccttgagtcacaGatgcaaagcctgaagaaaac	7	8	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:110678930G>A	ENST00000394634.2	-	7	1100	c.893C>T	c.(892-894)tCt>tTt	p.S298F	CFI_ENST00000512148.1_Intron|CFI_ENST00000394635.3_Missense_Mutation_p.S306F	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	298					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTGAGTCACAGATGCAAAGCC	0.254																																																	0			GRCh37	CD057022	CFI	D							18	17	17					4																	110678930		2048	4240	6288	SO:0001583	missense	3426			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.893C>T	4.37:g.110678930G>A	ENSP00000378130:p.Ser298Phe		O60442	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S298F	ENST00000394634.2	37	c.893	CCDS34049.1	4	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360817	0.11296	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104	D;D	0.90504	-2.62;-2.68	3.32	-2.46	0.06461	.	5.272300	0.00166	N	0.000009	T	0.74397	0.3711	N	0.08118	0	0.09310	N	1	B;B	0.33135	0.399;0.399	B;B	0.27076	0.076;0.076	T	0.70861	-0.4757	10	0.07990	T	0.79	4.27	2.6339	0.04952	0.122:0.435:0.2462:0.1969	.	306;298	E7ETH0;P05156	.;CFAI_HUMAN	F	306;298;298	ENSP00000378131:S306F;ENSP00000378130:S298F	ENSP00000378130:S298F	S	-	2	0	CFI	110898379	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.802000	0.01741	-0.624000	0.05611	0.591000	0.81541	TCT	CFI	-	superfamily_LDrepeatLR_classA_rpt		0.254	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		G	NM_000204		110678930	-1	no_errors	ENST00000394634	ensembl	human	known	70_37	missense	SNP	0.000	A	A	110678930	G	A	110678930	3	1	103	1	0	0	0	0	1	0	0	0	3294	942	33	1	886	1	CFI	4	110678930	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	10144762	110678930	80475346	65	15151										
TNIP3	79931	genome.wustl.edu	37	chr4	122082365	122082365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gttctttcttgttgatggttCagcacacttagaaaaaaaaa	7	6	3	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:122082365C>T	ENST00000509841.1	-	5	382	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	TNIP3_ENST00000454328.1_Missense_Mutation_p.E25K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E25K|TNIP3_ENST00000507879.1_Missense_Mutation_p.E95K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTGATGGTTCAGCACACTTA	0.338																																																	0													75	69	71					4																	122082365		2189	4293	6482	SO:0001583	missense	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.304G>A	4.37:g.122082365C>T	ENSP00000426613:p.Glu102Lys			Missense_Mutation	SNP	NULL	p.E25K	ENST00000509841.1	37	c.73	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	C	7.822	0.718052	0.15372	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.49432	0.93;0.93;0.79;0.78	4.77	0.803	0.18691	.	1.535050	0.03749	N	0.256213	T	0.42720	0.1215	L	0.36672	1.1	0.09310	N	0.999996	B;B;B	0.24426	0.103;0.103;0.103	B;B;B	0.28011	0.085;0.085;0.085	T	0.34378	-0.9831	10	0.11794	T	0.64	-0.739	14.9462	0.71032	0.0:0.5988:0.4012:0.0	.	95;25;25	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	K	25;25;95;102	ENSP00000057513:E25K;ENSP00000411817:E25K;ENSP00000427106:E95K;ENSP00000426613:E102K	ENSP00000057513:E25K	E	-	1	0	TNIP3	122301815	0.312000	0.24545	0.284000	0.24805	0.193000	0.23685	0.359000	0.20233	-0.016000	0.14127	-0.479000	0.04858	GAA	TNIP3	-	NULL		0.338	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	C	NM_024873		122082365	-1	no_errors	ENST00000057513	ensembl	human	known	70_37	missense	SNP	0.560	T	T	122082365	C	T	122082365	3	4	103	1	0	0	0	0	1	0	0	0	16346	835	29	1	944	1	TNIP3	4	122082365	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	11403435	122082365	69071911	66	15152										
PLK4	10733	genome.wustl.edu	37	chr4	128814468	128814468	+	Silent	SNP	C	C	T													0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atacacaaaacagaagatttCattcaggtgattgaaaagac							TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:128814468C>T	ENST00000270861.5	+	11	2491	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	PLK4_ENST00000507249.1_Silent_p.F678F|PLK4_ENST00000514379.1_Silent_p.F698F|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Silent_p.F661F|PLK4_ENST00000513090.1_Silent_p.F707F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	739					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAGAAGATTTCATTCAGGTGA	0.274																																					Colon(135;508 1718 19061 31832 42879)												0													60	65	63					4																	128814468		2202	4296	6498	SO:0001819	synonymous_variant	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2217C>T	4.37:g.128814468C>T			B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.F739	ENST00000270861.5	37	c.2217	CCDS3735.1	4																																																																																			PLK4	-	NULL		0.274	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	C			128814468	1	no_errors	ENST00000270861	ensembl	human	known	70_37	silent	SNP	0.579	T	T	128814468	C	T	128814468	2	4	103	1	0	0	0	0	0	0	0	1	12122	825	29	1		1	PLK4	4	128814468	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6732103	128814468	62339808	67	15153	82	2								
PLK4	10733	genome.wustl.edu	37	chr4	128814472	128814472	+	Nonsense_Mutation	SNP	C	C	T													0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acaaaacagaagatttcattCaggtgattgaaaagacaggg							TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:128814472C>T	ENST00000270861.5	+	11	2495	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	PLK4_ENST00000507249.1_Nonsense_Mutation_p.Q680*|PLK4_ENST00000514379.1_Nonsense_Mutation_p.Q700*|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Nonsense_Mutation_p.Q663*|PLK4_ENST00000513090.1_Nonsense_Mutation_p.Q709*	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	741					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGATTTCATTCAGGTGATTGA	0.274																																					Colon(135;508 1718 19061 31832 42879)												0													63	68	66					4																	128814472		2202	4296	6498	SO:0001587	stop_gained	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2221C>T	4.37:g.128814472C>T	ENSP00000270861:p.Gln741*		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.Q741*	ENST00000270861.5	37	c.2221	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.982180	0.98594	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	.	.	.	5.35	4.44	0.53790	.	0.571641	0.18726	N	0.132889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	0.0085	14.7107	0.69229	0.2202:0.7798:0.0:0.0	.	.	.	.	X	741;663;709;680;700	.	ENSP00000270861:Q741X	Q	+	1	0	PLK4	129033922	1.000000	0.71417	0.874000	0.34290	0.944000	0.59088	1.945000	0.40273	2.780000	0.95670	0.655000	0.94253	CAG	PLK4	-	NULL		0.274	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	C			128814472	1	no_errors	ENST00000270861	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	128814472	C	T	128814472	4	4	103	1	0	0	0	0	0	1	0	0	12122	827	29	1	2263	1	PLK4	4	128814472	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	4	128814472	62339804	68	15154	82	2								
VEGFC	7424	genome.wustl.edu	37	chr4	177605154	177605154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	actatatgaaaatcctggctCacaagccttctggcggttcg	9	11	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:177605154C>T	ENST00000280193.2	-	7	1601	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	396					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AATCCTGGCTCACAAGCCTTC	0.418																																																	0													117	109	112					4																	177605154		1917	4137	6054	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1186G>A	4.37:g.177605154C>T	ENSP00000280193:p.Glu396Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E396K	ENST00000280193.2	37	c.1186	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851667	0.32699	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	5.57	0.84162	.	0.392921	0.28431	N	0.015369	T	0.51126	0.1656	L	0.27053	0.805	0.45867	D	0.998723	B	0.16166	0.016	B	0.17979	0.02	T	0.44711	-0.9310	9	0.13108	T	0.6	-7.4628	19.9225	0.97093	0.0:1.0:0.0:0.0	.	396	P49767	VEGFC_HUMAN	K	396	.	ENSP00000280193:E396K	E	-	1	0	VEGFC	177842148	1.000000	0.71417	0.991000	0.47740	0.225000	0.24961	5.065000	0.64344	2.780000	0.95670	0.655000	0.94253	GAG	VEGFC	-	NULL		0.418	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	C	NM_005429		177605154	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	177605154	C	T	177605154	3	4	103	1	0	0	0	0	1	0	0	0	17183	835	29	1	80	1	VEGFC	4	177605154	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	48790682	177605154	13549122	69	15155										
PLEKHG4B	153478	genome.wustl.edu	37	chr5	155490	155490	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acttcgctgcaaactgtgaaGaagccatcattttcctacag	7	11	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:155490G>C	ENST00000283426.6	+	7	1122	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	358							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAACTGTGAAGAAGCCATCAT	0.458																																																	0													97	93	94					5																	155490		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1072G>C	5.37:g.155490G>C	ENSP00000283426:p.Glu358Gln			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E358Q	ENST00000283426.6	37	c.1072	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.581313	0.00879	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.30981	1.51;3.02	3.65	2.77	0.32553	.	.	.	.	.	T	0.19005	0.0456	L	0.31420	0.93	0.09310	N	1	P	0.42827	0.791	B	0.37650	0.255	T	0.08534	-1.0717	9	0.16896	T	0.51	.	8.6391	0.33966	0.0:0.2855:0.7145:0.0	.	358	Q96PX9	PKH4B_HUMAN	Q	358;272	ENSP00000283426:E358Q;ENSP00000422493:E272Q	ENSP00000283426:E358Q	E	+	1	0	PLEKHG4B	208490	0.977000	0.34250	0.001000	0.08648	0.002000	0.02628	1.951000	0.40333	0.495000	0.27882	0.467000	0.42956	GAA	PLEKHG4B	-	NULL		0.458	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	G	NM_052909		155490	1	no_errors	ENST00000283426	ensembl	human	known	70_37	missense	SNP	0.082	C	C	155490	G	C	155490	3	2	103	1	0	0	0	0	1	0	0	0	12096	943	33	1	1098	1	PLEKHG4B	5	155490	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		155490	180759770	70	15156										
DAB2	1601	genome.wustl.edu	37	chr5	39382892	39382892	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggttcggggaggatttgacaGagaagccgttctgttctctt	14	7	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:39382892G>C	ENST00000320816.6	-	10	1636	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C	DAB2_ENST00000509337.1_Missense_Mutation_p.S369C|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.S369C|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	390	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGATTTGACAGAGAAGCCGTT	0.522																																																	0													101	106	104					5																	39382892		2203	4300	6503	SO:0001583	missense	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1169C>G	5.37:g.39382892G>C	ENSP00000313391:p.Ser390Cys		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.S390C	ENST00000320816.6	37	c.1169	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866342	0.17250	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.37411	1.23;1.2;1.2	5.87	3.2	0.36748	.	0.369972	0.26638	N	0.023268	T	0.16514	0.0397	N	0.08118	0	0.22034	N	0.999407	B;B	0.22746	0.044;0.074	B;B	0.13407	0.006;0.009	T	0.11299	-1.0593	10	0.51188	T	0.08	-0.7424	5.7327	0.18049	0.3153:0.0:0.3301:0.3546	.	390;369	P98082;P98082-3	DAB2_HUMAN;.	C	390;369;369	ENSP00000313391:S390C;ENSP00000439919:S369C;ENSP00000426245:S369C	ENSP00000313391:S390C	S	-	2	0	DAB2	39418649	0.995000	0.38212	0.993000	0.49108	0.984000	0.73092	1.922000	0.40045	1.162000	0.42619	-0.262000	0.10625	TCT	DAB2	-	NULL		0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	G	NM_001343		39382892	-1	no_errors	ENST00000320816	ensembl	human	known	70_37	missense	SNP	0.986	C	C	39382892	G	C	39382892	3	2	103	1	0	0	0	0	1	0	0	0	4223	942	33	1	1163	1	DAB2	5	39382892	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	39227402	39382892	141532368	71	15157										
SFRS12	140890	genome.wustl.edu	37	chr5	65440340	65440340	+	5'Flank	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttccttcctaggagaaatcGaggagctgcggctctacccc	10	13	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:65440340G>C	ENST00000380918.3	+	0	0				AC025442.3_ENST00000521596.1_RNA|SREK1_ENST00000334121.6_Missense_Mutation_p.E46Q	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGGAGAAATCGAGGAGCTGCG	0.652																																					GBM(10;31 347 27684 38976 41583)												0													10	13	12					5																	65440340		1761	3922	5683	SO:0001631	upstream_gene_variant	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809		5.37:g.65440340G>C	Exception_encountered		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E46Q	ENST00000380918.3	37	c.136	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616569	0.87359	.	.	ENSG00000153914	ENST00000334121;ENST00000537482	T	0.18657	2.2	4.81	4.81	0.61882	.	0.115922	0.56097	D	0.000021	T	0.40222	0.1108	L	0.46947	1.48	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.67231	0.95;0.92	T	0.13202	-1.0518	10	0.56958	D	0.05	.	18.4336	0.90636	0.0:0.0:1.0:0.0	.	46;46	Q8WXA9-2;B3KRJ9	.;.	Q	46	ENSP00000334538:E46Q	ENSP00000334538:E46Q	E	+	1	0	SREK1	65476096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.721000	0.91446	2.663000	0.90544	0.655000	0.94253	GAG	SREK1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.652	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	G	NM_001077199		65440340	1	no_errors	ENST00000334121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65440340	G	C	65440340	1	2	103	0	1	0	0	0	0	0	0	0	14197	1059	37	1		1	SFRS12	5	65440340	5'Flank	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	26057448	65440340	115474920	72	15158										
GPR98	84059	genome.wustl.edu	37	chr5	89940535	89940535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttcacagctgtttatgatgTagtaagaaatcgaggcaact	9	6	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:89940535T>C	ENST00000405460.2	+	15	2843	c.2747T>C	c.(2746-2748)gTa>gCa	p.V916A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	916	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTTATGATGTAGTAAGAAAT	0.328																																																	0													249	234	239					5																	89940535		1867	4097	5964	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2747T>C	5.37:g.89940535T>C	ENSP00000384582:p.Val916Ala		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V916A	ENST00000405460.2	37	c.2747	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964763	0.53507	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.47528	0.84	5.65	4.49	0.54785	Na-Ca exchanger/integrin-beta4 (1);	0.578521	0.19297	N	0.117721	T	0.48537	0.1505	M	0.81802	2.56	0.80722	D	1	P	0.45348	0.856	B	0.37144	0.242	T	0.56092	-0.8036	10	0.87932	D	0	.	11.646	0.51261	0.0:0.0697:0.0:0.9303	.	916	Q8WXG9	GPR98_HUMAN	A	916	ENSP00000384582:V916A	ENSP00000296619:V916A	V	+	2	0	GPR98	89976291	0.978000	0.34361	0.002000	0.10522	0.750000	0.42670	5.935000	0.70145	0.980000	0.38523	0.373000	0.22412	GTA	GPR98	-	smart_Calx_beta		0.328	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		89940535	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.440	C	C	89940535	T	C	89940535	3	2	103	1	0	0	0	0	1	0	0	0	6741	1638	57	5	2805	5	GPR98	5	89940535	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	24500195	89940535	90974725	73	15159										
FBN2	2201	genome.wustl.edu	37	chr5	127627276	127627276	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccaggggggcagaggcactgGaagccccctggagtattagt	16	10	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:127627276G>C	ENST00000508053.1	-	55	7211	c.6237C>G	c.(6235-6237)ttC>ttG	p.F2079L	FBN2_ENST00000262464.4_Missense_Mutation_p.F2079L			P35556	FBN2_HUMAN	fibrillin 2	2079	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGAGGCACTGGAAGCCCCCTG	0.443																																																	0													102	112	109					5																	127627276		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6237C>G	5.37:g.127627276G>C	ENSP00000424571:p.Phe2079Leu		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.F2079L	ENST00000508053.1	37	c.6237	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023556	0.75390	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95853	-3.83;-3.83	5.35	5.35	0.76521	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.97945	0.9324	M	0.90870	3.155	0.58432	D	0.999995	D	0.63046	0.992	D	0.76071	0.987	D	0.97957	1.0335	10	0.72032	D	0.01	.	12.8788	0.58006	0.074:0.0:0.926:0.0	.	2079	P35556	FBN2_HUMAN	L	2079	ENSP00000262464:F2079L;ENSP00000424571:F2079L	ENSP00000262464:F2079L	F	-	3	2	FBN2	127655175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.673000	0.54591	2.941000	0.99782	0.655000	0.94253	TTC	FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127627276	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127627276	G	C	127627276	3	2	103	1	0	0	0	0	1	0	0	0	5721	1165	41	1	2569	1	FBN2	5	127627276	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	37686741	127627276	53287984	74	15160										
PCDHB11	56125	genome.wustl.edu	37	chr5	140580506	140580506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaattgtttgttccattccgGaagacctcccattcgtgcta	8	11	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:140580506G>A	ENST00000354757.3	+	1	1159	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.E22K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCATTCCGGAAGACCTCCC	0.448																																																	0													124	123	123					5																	140580506		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1159G>A	5.37:g.140580506G>A	ENSP00000346802:p.Glu387Lys		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E387K	ENST00000354757.3	37	c.1159	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685234	0.68157	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.60920	0.15;4.66	2.52	2.52	0.30459	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.43646	1.37	0.09310	N	1	B	0.32128	0.357	P	0.47044	0.535	T	0.56220	-0.8015	9	0.66056	D	0.02	.	6.4026	0.21646	0.2174:0.0:0.7826:0.0	.	387	Q9Y5F2	PCDBB_HUMAN	K	22;387	ENSP00000440344:E22K;ENSP00000346802:E387K	ENSP00000346802:E387K	E	+	1	0	PCDHB11	140560690	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-0.071000	0.11505	1.417000	0.47077	0.306000	0.20318	GAA	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140580506	1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.000	A	A	140580506	G	A	140580506	3	1	103	1	0	0	0	0	1	0	0	0	11560	1175	41	1	1161	1	PCDHB11	5	140580506	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	12953230	140580506	40334754	75	15161										
PCDHB14	56122	genome.wustl.edu	37	chr5	140605043	140605043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agcctcctcgctcggccaccGccacgctgcacgtgctcctg	10	20	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:140605043G>A	ENST00000239449.4	+	1	1966	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A503T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.721																																					Ovarian(141;50 1831 27899 33809 37648)												0													19	23	22					5																	140605043		1918	3882	5800	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1966G>A	5.37:g.140605043G>A	ENSP00000239449:p.Ala656Thr		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A656T	ENST00000239449.4	37	c.1966	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	N	8.928	0.962820	0.18583	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.50548	0.74;0.74	3.83	2.96	0.34315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40694	0.1127	L	0.47190	1.495	0.19575	N	0.999967	B	0.29590	0.25	B	0.24848	0.056	T	0.32161	-0.9917	9	0.62326	D	0.03	.	11.2098	0.48790	0.0934:0.0:0.9066:0.0	.	656	Q9Y5E9	PCDBE_HUMAN	T	503;656	ENSP00000444518:A503T;ENSP00000239449:A656T	ENSP00000239449:A656T	A	+	1	0	PCDHB14	140585227	0.005000	0.15991	0.999000	0.59377	0.122000	0.20287	1.408000	0.34668	0.722000	0.32252	-0.199000	0.12753	GCC	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.721	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	G	NM_018934		140605043	1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.609	A	A	140605043	G	A	140605043	3	1	103	1	0	0	0	0	1	0	0	0	11563	1087	38	2	1968	2	PCDHB14	5	140605043	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	24537	140605043	40310217	76	15162										
RMND5B	64777	genome.wustl.edu	37	chr5	177571073	177571073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tggaggccctcagctatgctCggcacttccagccctttgct	10	15	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:177571073C>T	ENST00000515098.1	+	8	1009	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RMND5B_ENST00000542098.1_Missense_Mutation_p.R207W|RMND5B_ENST00000313386.4_Missense_Mutation_p.R220W			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	220										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTATGCTCGGCACTTCCA	0.627																																																	0													44	45	44					5																	177571073		2203	4300	6503	SO:0001583	missense	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.658C>T	5.37:g.177571073C>T	ENSP00000420875:p.Arg220Trp		Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R220W	ENST00000515098.1	37	c.658	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619193	0.46736	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.3	3.41	0.39046	Ran binding protein-like, CRA domain (1);	0.000000	0.64402	D	0.000001	T	0.80752	0.4683	M	0.91196	3.185	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.82408	-0.0472	9	0.87932	D	0	-27.6341	9.2562	0.37584	0.3935:0.6065:0.0:0.0	.	207;207;220	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	W	220;220;207	.	ENSP00000320623:R220W	R	+	1	2	RMND5B	177503679	0.371000	0.25056	0.998000	0.56505	0.364000	0.29643	0.837000	0.27558	0.976000	0.38417	0.313000	0.20887	CGG	RMND5B	-	smart_CRA_dom		0.627	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	C	NM_022762		177571073	1	no_errors	ENST00000313386	ensembl	human	known	70_37	missense	SNP	0.992	T	T	177571073	C	T	177571073	3	4	103	1	0	0	0	0	1	0	0	0	13428	875	31	1	676	1	RMND5B	5	177571073	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	36966030	177571073	3344187	77	15163										
HIVEP1	3096	genome.wustl.edu	37	chr6	12123370	12123370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgtcgaccatcatggaacaAcagataagttcagcagccca	8	12	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:12123370A>G	ENST00000379388.2	+	4	3674	c.3342A>G	c.(3340-3342)caA>caG	p.Q1114Q	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCATGGAACAACAGATAAGTT	0.498																																																	0													67	69	68					6																	12123370		2022	4173	6195	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3342A>G	6.37:g.12123370A>G			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1114	ENST00000379388.2	37	c.3342	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	A	NM_002114		12123370	1	no_errors	ENST00000379388	ensembl	human	known	70_37	silent	SNP	0.010	G	G	12123370	A	G	12123370	2	3	103	1	0	0	0	0	0	0	0	1	7206	40	2	5		5	HIVEP1	6	12123370	Silent	SNP	A	TCGA-EK-A2R8-01A-21D-A18J-09		12123370	158991697	78	15164										
HIST1H2AE	3012	genome.wustl.edu	37	chr6	26217568	26217568	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgctgcctaagaagacggaGagccaccataaggccaaggg	13	10	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:26217568G>A	ENST00000303910.2	+	1	404	c.366G>A	c.(364-366)gaG>gaA	p.E122E	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542																																																	0													52	53	53					6																	26217568		2203	4300	6503	SO:0001819	synonymous_variant	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.366G>A	6.37:g.26217568G>A			P28001|Q76P63	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122	ENST00000303910.2	37	c.366	CCDS4595.1	6																																																																																			HIST1H2AE	-	superfamily_Histone-fold,smart_Histone_H2A		0.542	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	G	NM_021052		26217568	1	no_errors	ENST00000303910	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26217568	G	A	26217568	2	1	103	1	0	0	0	0	0	0	0	1	7152	933	33	1		1	HIST1H2AE	6	26217568	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	14094198	26217568	144897499	79	15165										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834714	27834714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gctttgggctttgccgccttCggcttaactgccttgggctt	12	12	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:27834714C>T	ENST00000331442.3	-	1	645	c.594G>A	c.(592-594)ccG>ccA	p.P198P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	198					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.P198P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCGCCTTCGGCTTAACTG	0.557																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											71	68	69					6																	27834714		2203	4300	6503	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.594G>A	6.37:g.27834714C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.P198	ENST00000331442.3	37	c.594	CCDS4635.1	6																																																																																			HIST1H1B	-	prints_Histone_H5		0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834714	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	0.208	T	T	27834714	C	T	27834714	2	4	103	1	0	0	0	0	0	0	0	1	7143	871	31	1		1	HIST1H1B	6	27834714	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1617146	27834714	143280353	80	15166										
COL11A2	1302	genome.wustl.edu	37	chr6	33151975	33151975	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agggccaagctctgtctcctCacgataatcatccccatagc	7	15	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:33151975C>G	ENST00000341947.2	-	8	1293	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	COL11A2_ENST00000374713.1_Missense_Mutation_p.E309Q|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.E330Q|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.E335Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	356	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTGTCTCCTCACGATAATCA	0.567																																					Melanoma(1;90 116 3946 5341 17093)												0													76	72	73					6																	33151975		2203	4300	6503	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1066G>C	6.37:g.33151975C>G	ENSP00000339915:p.Glu356Gln		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E356Q	ENST00000341947.2	37	c.1066		6	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001801	0.35320	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.90563	-2.34;-2.4;-2.42;-2.39;-2.69	3.74	3.74	0.42951	.	0.882556	0.09464	U	0.798543	T	0.77432	0.4129	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	P	0.49853	0.624	T	0.70846	-0.4761	10	0.17832	T	0.49	.	11.3108	0.49362	0.0:1.0:0.0:0.0	.	356	P13942	COBA2_HUMAN	Q	356;335;330;309;356	ENSP00000339915:E356Q;ENSP00000350079:E335Q;ENSP00000363846:E330Q;ENSP00000363845:E309Q;ENSP00000405520:E356Q	ENSP00000339915:E356Q	E	-	1	0	COL11A2	33259953	0.981000	0.34729	0.994000	0.49952	0.983000	0.72400	2.171000	0.42453	2.360000	0.80028	0.549000	0.68633	GAG	COL11A2	-	NULL		0.567	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	HGNC	protein_coding		C			33151975	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	0.995	G	G	33151975	C	G	33151975	3	3	103	1	0	0	0	0	1	0	0	0	3673	835	29	1	4380	1	COL11A2	6	33151975	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5317261	33151975	137963092	81	15167										
NFYA	4800	genome.wustl.edu	37	chr6	41065114	41065114	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aggatccaaaccaagccgatGaagaagcaatgacacagatc	9	10	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:41065114G>A	ENST00000341376.6	+	10	1210	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.E308K	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	337					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAAGCCGATGAAGAAGCAAT	0.453																																																	0													227	183	198					6																	41065114		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.1009G>A	6.37:g.41065114G>A	ENSP00000345702:p.Glu337Lys		Q8IXU0	Missense_Mutation	SNP	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.E337K	ENST00000341376.6	37	c.1009	CCDS4849.1	6	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742706	0.69418	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	6.05	6.05	0.98169	.	0.228496	0.46758	D	0.000274	T	0.24044	0.0582	L	0.29908	0.895	0.50171	D	0.999851	P;P	0.39424	0.673;0.544	B;B	0.28916	0.096;0.032	T	0.07271	-1.0781	9	0.19590	T	0.45	-18.8443	17.7572	0.88452	0.0:0.0:1.0:0.0	.	308;337	P23511-2;P23511	.;NFYA_HUMAN	K	337;308	.	ENSP00000345702:E337K	E	+	1	0	NFYA	41173092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.052000	0.76634	2.878000	0.98634	0.650000	0.86243	GAA	NFYA	-	NULL		0.453	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1	G			41065114	1	no_errors	ENST00000341376	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41065114	G	A	41065114	3	1	103	1	0	0	0	0	1	0	0	0	10413	1291	45	1	1043	1	NFYA	6	41065114	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	7913139	41065114	130049953	82	15168										
UBR2	23304	genome.wustl.edu	37	chr6	42655973	42655973	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggtgcccgaaatcaggtggtGataagagcagagccccaact	13	10	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:42655973G>C	ENST00000372899.1	+	45	5131	c.4873G>C	c.(4873-4875)Gat>Cat	p.D1625H	UBR2_ENST00000372901.1_Missense_Mutation_p.D1625H|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1625					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATCAGGTGGTGATAAGAGCAG	0.502																																																	0													157	149	151					6																	42655973		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4873G>C	6.37:g.42655973G>C	ENSP00000361990:p.Asp1625His		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D1625H	ENST00000372899.1	37	c.4873	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885617	0.91814	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.54866	0.55;0.55	5.68	5.68	0.88126	.	0.090377	0.64402	D	0.000001	T	0.68879	0.3049	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.99	D;D;P	0.68353	0.957;0.937;0.895	T	0.68119	-0.5493	10	0.52906	T	0.07	-14.0453	20.148	0.98083	0.0:0.0:1.0:0.0	.	213;1625;1625	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	H	1625	ENSP00000361990:D1625H;ENSP00000361992:D1625H	ENSP00000361990:D1625H	D	+	1	0	UBR2	42763951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.751000	0.98889	2.834000	0.97654	0.655000	0.94253	GAT	UBR2	-	NULL		0.502	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42655973	1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42655973	G	C	42655973	3	2	103	1	0	0	0	0	1	0	0	0	16933	1290	45	1	5197	1	UBR2	6	42655973	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1590859	42655973	128459094	83	15169										
PEX6	5190	genome.wustl.edu	37	chr6	42936212	42936212	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctccacagccccactactttCtgcacagaggctggagcagg	10	15	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:42936212C>T	ENST00000304611.8	-	7	1573	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	PEX6_ENST00000244546.4_Missense_Mutation_p.E502K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	502					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCACTACTTTCTGCACAGAGG	0.622																																																	0													18	18	18					6																	42936212		2194	4286	6480	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1504G>A	6.37:g.42936212C>T	ENSP00000303511:p.Glu502Lys		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E502K	ENST00000304611.8	37	c.1504	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594940	0.46318	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.91792	-2.91;-2.91	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.184267	0.56097	D	0.000024	T	0.53222	0.1783	N	0.00205	-1.85	0.22112	N	0.999353	B	0.22746	0.074	B	0.23852	0.049	T	0.50145	-0.8862	10	0.02654	T	1	-13.6517	17.0547	0.86530	0.0:1.0:0.0:0.0	.	502	Q13608	PEX6_HUMAN	K	502	ENSP00000303511:E502K;ENSP00000244546:E502K	ENSP00000244546:E502K	E	-	1	0	PEX6	43044190	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.533000	0.67160	2.779000	0.95612	0.655000	0.94253	GAA	PEX6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	C	NM_000287		42936212	-1	no_errors	ENST00000304611	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42936212	C	T	42936212	3	4	103	1	0	0	0	0	1	0	0	0	11774	922	32	1	1482	1	PEX6	6	42936212	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	280239	42936212	128178855	84	15170										
SRF	6722	genome.wustl.edu	37	chr6	43143632	43143632	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agtgccaatgggactgtgctGaagagtacaggcagcggccc	15	10	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:43143632G>A	ENST00000265354.4	+	3	1327	c.969G>A	c.(967-969)ctG>ctA	p.L323L	SRF_ENST00000457278.2_Silent_p.L119L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	323					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGACTGTGCTGAAGAGTACAG	0.602																																																	0													108	96	100					6																	43143632		2203	4300	6503	SO:0001819	synonymous_variant	6722			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.969G>A	6.37:g.43143632G>A			Q5T648	Silent	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.L323	ENST00000265354.4	37	c.969	CCDS4889.1	6																																																																																			SRF	-	NULL		0.602	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRF	HGNC	protein_coding	OTTHUMT00000040581.1	G	NM_003131		43143632	1	no_errors	ENST00000265354	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43143632	G	A	43143632	2	1	103	1	0	0	0	0	0	0	0	1	15173	1277	45	1		1	SRF	6	43143632	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	207420	43143632	127971435	85	15171										
MEP1A	4224	genome.wustl.edu	37	chr6	46806840	46806840	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atcttcttgaccttctccatCatcgccatcctttcccaaag	3	16	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:46806840C>G	ENST00000230588.4	+	14	2217	c.2208C>G	c.(2206-2208)atC>atG	p.I736M		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	736					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCTTCTCCATCATCGCCATCC	0.602																																																	0													93	75	81					6																	46806840		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2208C>G	6.37:g.46806840C>G	ENSP00000230588:p.Ile736Met		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.I736M	ENST00000230588.4	37	c.2208	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883234	0.33255	.	.	ENSG00000112818	ENST00000230588	T	0.32023	1.47	5.8	4.91	0.64330	.	0.268721	0.47455	N	0.000235	T	0.21550	0.0519	L	0.52573	1.65	0.38921	D	0.95774	P;P	0.51653	0.947;0.905	P;P	0.48270	0.572;0.549	T	0.05784	-1.0864	10	0.66056	D	0.02	-7.8425	9.236	0.37466	0.1509:0.777:0.0:0.0721	.	764;736	B7ZL91;Q16819	.;MEP1A_HUMAN	M	736	ENSP00000230588:I736M	ENSP00000230588:I736M	I	+	3	3	MEP1A	46914799	0.759000	0.28416	0.165000	0.22776	0.050000	0.14768	1.223000	0.32527	1.397000	0.46682	0.650000	0.86243	ATC	MEP1A	-	pirsf_Pept_M12A_Meprin		0.602	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	C	NM_005588		46806840	1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.806	G	G	46806840	C	G	46806840	3	3	103	1	0	0	0	0	1	0	0	0	9498	816	29	1	2262	1	MEP1A	6	46806840	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	3663208	46806840	124308227	86	15172										
GPR115	221393	genome.wustl.edu	37	chr6	47680153	47680153	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctatacctctgcatattctaGactttcgagctccagagacc	6	13	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:47680153G>T	ENST00000283303.2	+	5	619	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.D121Y|GPR115_ENST00000371220.1_Missense_Mutation_p.D178Y	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	121					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATATTCTAGACTTTCGAGC	0.418																																					GBM(22;431 510 9010 26644 32828)												0													152	142	145					6																	47680153		2203	4300	6503	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.361G>T	6.37:g.47680153G>T	ENSP00000283303:p.Asp121Tyr		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.D178Y	ENST00000283303.2	37	c.532	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323944	0.41096	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.36340	1.47;1.26;1.26	4.96	4.05	0.47172	.	0.642064	0.15657	N	0.251075	T	0.16557	0.0398	L	0.57536	1.79	0.09310	N	0.999991	B	0.33694	0.421	B	0.31337	0.128	T	0.12066	-1.0562	10	0.62326	D	0.03	-9.7309	7.6095	0.28122	0.1254:0.0:0.8746:0.0	.	121	Q8IZF3	GP115_HUMAN	Y	178;121;121	ENSP00000360264:D178Y;ENSP00000328319:D121Y;ENSP00000283303:D121Y	ENSP00000283303:D121Y	D	+	1	0	GPR115	47788112	0.032000	0.19561	0.054000	0.19295	0.105000	0.19272	2.095000	0.41729	1.356000	0.45884	0.655000	0.94253	GAC	GPR115	-	NULL		0.418	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	G	NM_153838		47680153	1	no_errors	ENST00000371220	ensembl	human	known	70_37	missense	SNP	0.322	T	T	47680153	G	T	47680153	3	4	103	1	0	0	0	0	1	0	0	0	6651	942	33	3	375	3	GPR115	6	47680153	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	873313	47680153	123434914	87	15173										
ICK	22858	genome.wustl.edu	37	chr6	52902788	52902788	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	caggaataaaattttcttttCattctagaagagaagaaaga	7	4	3	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:52902788C>T	ENST00000350082.5	-	3	451	c.105G>A	c.(103-105)atG>atA	p.M35I	ICK_ENST00000356971.3_Missense_Mutation_p.M35I	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATTTTCTTTTCATTCTAGAAG	0.308																																																	0													30	31	31					6																	52902788		2197	4283	6480	SO:0001583	missense	22858			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.105G>A	6.37:g.52902788C>T	ENSP00000263043:p.Met35Ile		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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.M35I	ENST00000350082.5	37	c.105	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.144519	0.94603	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.62105	0.05;0.05	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	N	0.03917	-0.325	0.80722	D	1	P;D	0.54397	0.846;0.966	P;P	0.62014	0.557;0.897	T	0.58301	-0.7660	10	0.30078	T	0.28	-14.9791	18.5757	0.91154	0.0:1.0:0.0:0.0	.	35;35	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	I	35	ENSP00000263043:M35I;ENSP00000349458:M35I	ENSP00000263043:M35I	M	-	3	0	ICK	53010747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.467000	0.83353	0.561000	0.74099	ATG	ICK	-	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		0.308	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	C	NM_016513		52902788	-1	no_errors	ENST00000350082	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52902788	C	T	52902788	3	4	103	1	0	0	0	0	1	0	0	0	7504	826	29	1	1841	1	ICK	6	52902788	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5222635	52902788	118212279	88	15174										
SMAP1	60682	genome.wustl.edu	37	chr6	71377740	71377740	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgccgagatggcgacgcgctCctgtcgggagaaggctcaga	16	11	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:71377740C>G	ENST00000370455.3	+	1	262	c.14C>G	c.(13-15)tCc>tGc	p.S5C	SMAP1_ENST00000316999.5_Missense_Mutation_p.S5C|SMAP1_ENST00000370452.3_Missense_Mutation_p.S5C|SMAP1_ENST00000422334.2_Missense_Mutation_p.S5C	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	5					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GCGACGCGCTCCTGTCGGGAG	0.687																																																	0													37	33	34					6																	71377740		2200	4300	6500	SO:0001583	missense	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.14C>G	6.37:g.71377740C>G	ENSP00000359484:p.Ser5Cys		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S5C	ENST00000370455.3	37	c.14	CCDS43478.1	6	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205352	0.58234	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000422334	T;T;T;T	0.47869	2.11;2.15;1.77;0.83	5.28	4.42	0.53409	.	0.219735	0.41097	D	0.000956	T	0.57651	0.2068	M	0.73217	2.22	0.53688	D	0.999978	D;D;D	0.76494	0.993;0.993;0.999	P;P;D	0.73708	0.8;0.8;0.981	T	0.64373	-0.6423	10	0.66056	D	0.02	-5.3483	13.5364	0.61650	0.0:0.9234:0.0:0.0766	.	5;5;5	Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;SMAP1_HUMAN	C	5	ENSP00000359481:S5C;ENSP00000313382:S5C;ENSP00000359484:S5C;ENSP00000398541:S5C	ENSP00000313382:S5C	S	+	2	0	SMAP1	71434461	1.000000	0.71417	0.965000	0.40720	0.013000	0.08279	7.067000	0.76741	1.230000	0.43646	-0.379000	0.06801	TCC	SMAP1	-	NULL		0.687	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	C	NM_001044305		71377740	1	no_errors	ENST00000370455	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71377740	C	G	71377740	3	3	103	1	0	0	0	0	1	0	0	0	14796	855	30	1	16	1	SMAP1	6	71377740	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	18474952	71377740	99737327	89	15175										
SEC63	11231	genome.wustl.edu	37	chr6	108243115	108243116	+	Splice_Site	INS	-	-	GGG													0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttctgctactgtggctccctINSggggaaaaacaaaaaaaaaa					rs142388422	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:108243115_108243116insGGG	ENST00000369002.4	-	4	519		c.e4-2			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGTGGCTCCCTGGGGAAAAACA	0.317														1685	0.336462	0.2428	0.3703	5008	,	,		14450	0.3333		0.3499	False		,,,				2504	0.4284																0																																										SO:0001630	splice_region_variant	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.340-2->CCC	6.37:g.108243116_108243118dupGGG			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Splice_Site	INS	-	e4-2	ENST00000369002.4	37	c.340-3_340-2	CCDS5061.1	6																																																																																			SEC63	-	-		0.317	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	-	NM_007214	Intron	108243116	-1	no_errors	ENST00000369002	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.980	GGG	GGG	108243116	-	GGG	108243115	8	5	103	1	0	1	1	0	0	0	1	0	14035	1594	55	0	2016	0	SEC63	6	108243115	Splice_Site	INS	-	TCGA-EK-A2R8-01A-21D-A18J-09	36865375	108243115	62871952	90	15176										
FYN	2534	genome.wustl.edu	37	chr6	112025271	112025271	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaaggacaatagctgtcgctCagcatcttttcggccaagtt	9	10	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:112025271C>T	ENST00000354650.3	-	7	1084	c.478G>A	c.(478-480)Gag>Aag	p.E160K	FYN_ENST00000356013.2_Missense_Mutation_p.E160K|FYN_ENST00000538466.1_Missense_Mutation_p.E160K|FYN_ENST00000368682.3_Missense_Mutation_p.E160K|FYN_ENST00000229471.4_Missense_Mutation_p.E160K|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Missense_Mutation_p.E160K|FYN_ENST00000368678.4_Missense_Mutation_p.E160K|FYN_ENST00000229470.5_Missense_Mutation_p.E111K	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	160	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCTGTCGCTCAGCATCTTTT	0.393																																																	0													125	117	120					6																	112025271		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.478G>A	6.37:g.112025271C>T	ENSP00000346671:p.Glu160Lys		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E160K	ENST00000354650.3	37	c.478	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.674204	0.96764	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856;ENST00000520518;ENST00000517419	D;T;D;T;D;T;D;D;D;D;T	0.91740	-2.9;1.27;-2.9;1.27;-2.9;1.27;-2.9;-2.9;-2.9;-2.9;1.27	6.07	6.07	0.98685	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	0.986;0.969;1.0	D	0.96978	0.9713	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	160;160;160	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	K	160;160;160;160;160;111;160;160;111;160;160;160	ENSP00000357671:E160K;ENSP00000346671:E160K;ENSP00000229471:E160K;ENSP00000357656:E160K;ENSP00000357667:E160K;ENSP00000229470:E111K;ENSP00000348295:E160K;ENSP00000440646:E160K;ENSP00000427993:E160K;ENSP00000429294:E160K;ENSP00000429866:E160K	ENSP00000229470:E111K	E	-	1	0	FYN	112131964	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAG	FYN	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.393	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	C			112025271	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112025271	C	T	112025271	3	4	103	1	0	0	0	0	1	0	0	0	6144	835	29	1	1327	1	FYN	6	112025271	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	3782156	112025271	59089796	91	15177										
FAM184A	79632	genome.wustl.edu	37	chr6	119345270	119345270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgcttcttgtccctgaaattCttttctaagatcagcttcct	5	11	4	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:119345270C>G	ENST00000338891.7	-	2	1311	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.E290Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E170Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E170Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.E170Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	290						extracellular space (GO:0005615)		p.E290K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCCTGAAATTCTTTTCTAAGA	0.378																																																	1	Substitution - Missense(1)	skin(1)											104	98	100					6																	119345270		1816	4072	5888	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.868G>C	6.37:g.119345270C>G	ENSP00000342604:p.Glu290Gln		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.E290Q	ENST00000338891.7	37	c.868	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152745	0.57259	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00352	7.96;7.96;7.96;7.96;7.96	5.04	5.04	0.67666	.	0.051515	0.85682	D	0.000000	T	0.00300	0.0009	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.54964	0.961;0.961;0.969	P;P;P	0.57009	0.756;0.756;0.811	D	0.93014	0.6434	10	0.23302	T	0.38	-16.1661	18.7409	0.91773	0.0:1.0:0.0:0.0	.	290;170;290	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	290;170;170;290;170	ENSP00000342604:E290Q;ENSP00000326608:E170Q;ENSP00000357460:E170Q;ENSP00000430442:E290Q;ENSP00000429826:E170Q	ENSP00000342604:E290Q	E	-	1	0	FAM184A	119386969	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.189000	0.77747	2.506000	0.84524	0.460000	0.39030	GAA	FAM184A	-	NULL		0.378	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	C	NM_024581		119345270	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119345270	C	G	119345270	3	3	103	1	0	0	0	0	1	0	0	0	5526	922	32	1	2622	1	FAM184A	6	119345270	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	7319999	119345270	51769797	92	15178										
HEY2	23493	genome.wustl.edu	37	chr6	126070928	126070928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcggtcttcgccgggatgaaGcgcccctgcgaggagacgac	16	13	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:126070928G>C	ENST00000368364.3	+	1	203	c.6G>C	c.(4-6)aaG>aaC	p.K2N	RP11-624M8.1_ENST00000606001.1_RNA|HEY2_ENST00000368365.1_Intron|RP11-624M8.1_ENST00000451660.2_RNA|RP11-624M8.1_ENST00000432121.1_RNA	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	2					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCGGGATGAAGCGCCCCTGCG	0.731																																																	0													18	17	18					6																	126070928		2162	4268	6430	SO:0001583	missense	23493			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.6G>C	6.37:g.126070928G>C	ENSP00000357348:p.Lys2Asn			Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1	p.K2N	ENST00000368364.3	37	c.6	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467051	0.84533	.	.	ENSG00000135547	ENST00000368364	T	0.72167	-0.63	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.83013	-0.0171	10	0.87932	D	0	-14.9373	17.887	0.88858	0.0:0.0:1.0:0.0	.	2	Q9UBP5	HEY2_HUMAN	N	2	ENSP00000357348:K2N	ENSP00000357348:K2N	K	+	3	2	HEY2	126112621	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	5.966000	0.70395	2.277000	0.76020	0.462000	0.41574	AAG	HEY2	-	NULL		0.731	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	G			126070928	1	no_errors	ENST00000368364	ensembl	human	known	70_37	missense	SNP	1.000	C	C	126070928	G	C	126070928	3	2	103	1	0	0	0	0	1	0	0	0	7099	962	34	4	8	4	HEY2	6	126070928	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6725658	126070928	45044139	93	15179										
FUCA2	2519	genome.wustl.edu	37	chr6	143825369	143825369	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	attccagttccacgaatattCtgacccccacaaggtaaagc	6	13	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:143825369C>G	ENST00000002165.6	-	3	488	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RP1-20N2.6_ENST00000610068.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	145					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CACGAATATTCTGACCCCCAC	0.423																																																	0													89	95	93					6																	143825369		2203	4300	6503	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.433G>C	6.37:g.143825369C>G	ENSP00000002165:p.Glu145Gln		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.E145Q	ENST00000002165.6	37	c.433	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425942	0.25726	.	.	ENSG00000001036	ENST00000002165	T	0.57595	0.39	5.46	-1.39	0.08997	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.289012	0.41605	D	0.000855	T	0.11922	0.0290	N	0.10972	0.075	0.32873	D	0.509483	B	0.12630	0.006	B	0.15870	0.014	T	0.06250	-1.0837	10	0.48119	T	0.1	-3.3088	6.815	0.23824	0.0:0.1785:0.1529:0.6686	.	145	Q9BTY2	FUCO2_HUMAN	Q	145	ENSP00000002165:E145Q	ENSP00000002165:E145Q	E	-	1	0	FUCA2	143867062	0.208000	0.23494	0.004000	0.12327	0.830000	0.47004	0.718000	0.25866	-0.234000	0.09782	-0.142000	0.14014	GAA	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub		0.423	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	C	NM_032020		143825369	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	missense	SNP	0.197	G	G	143825369	C	G	143825369	3	3	103	1	0	0	0	0	1	0	0	0	6113	922	32	1	990	1	FUCA2	6	143825369	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	17754441	143825369	27289698	94	15180										
SAMD5	389432	genome.wustl.edu	37	chr6	147830478	147830478	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atcatgatcagggataagctCgtccgtgacggcatccacct	10	12	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:147830478C>A	ENST00000367474.1	+	1	416	c.414C>A	c.(412-414)ctC>ctA	p.L138L		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	138													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGGATAAGCTCGTCCGTGACG	0.697																																																	0													25	20	21					6																	147830478		2202	4298	6500	SO:0001819	synonymous_variant	389432			AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.414C>A	6.37:g.147830478C>A				Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L138	ENST00000367474.1	37	c.414	CCDS34548.1	6																																																																																			SAMD5	-	NULL		0.697	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD5	HGNC	protein_coding	OTTHUMT00000042610.1	C	NM_001030060		147830478	1	no_errors	ENST00000367474	ensembl	human	known	70_37	silent	SNP	0.977	A	A	147830478	C	A	147830478	2	1	103	1	0	0	0	0	0	0	0	1	13853	871	31	3		3	SAMD5	6	147830478	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	4005109	147830478	23284589	95	15181										
PLEKHG1	57480	genome.wustl.edu	37	chr6	151055052	151055052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccgccacggggcaacagaacGcggatgagggcagcgaaagg	17	11	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:151055052G>A	ENST00000358517.2	+	2	446	c.235G>A	c.(235-237)Gcg>Acg	p.A79T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A79T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	79							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAACAGAACGCGGATGAGGG	0.627																																																	0													39	44	42					6																	151055052		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.235G>A	6.37:g.151055052G>A	ENSP00000351318:p.Ala79Thr		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A79T	ENST00000358517.2	37	c.235	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	5.669	0.308025	0.10733	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.51	-11.0	0.00169	.	2.271330	0.01430	N	0.014682	T	0.05227	0.0139	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.14008	-1.0488	9	.	.	.	.	0.9375	0.01348	0.2655:0.2354:0.2838:0.2152	.	79;79	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	T	79	ENSP00000356297:A79T;ENSP00000351318:A79T	.	A	+	1	0	PLEKHG1	151096745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.075000	0.00616	-3.806000	0.00104	-2.915000	0.00090	GCG	PLEKHG1	-	NULL		0.627	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	G			151055052	1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	0.000	A	A	151055052	G	A	151055052	3	1	103	1	0	0	0	0	1	0	0	0	12092	1087	38	2	237	2	PLEKHG1	6	151055052	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3224574	151055052	20060015	96	15182										
PDE10A	10846	genome.wustl.edu	37	chr6	165848726	165848726	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaatcaaaaagccacttactCcaaggatgtcttctactagc	6	11	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:165848726C>T	ENST00000366882.1	-	7	660	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PDE10A_ENST00000539869.2_Splice_Site_p.G179E|PDE10A_ENST00000354448.4_Splice_Site_p.G169E			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	169	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCCACTTACTCCAAGGATGTC	0.408																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													135	131	133					6																	165848726		2203	4300	6503	SO:0001630	splice_region_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.507+1G>A	6.37:g.165848726C>T			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G179E	ENST00000366882.1	37	c.536		6	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645781	0.47258	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.64618	-0.11;-0.11	5.49	5.49	0.81192	GAF (2);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.49350	1.555	0.80722	D	1	D;P	0.89917	1.0;0.728	D;B	0.97110	1.0;0.306	T	0.59473	-0.7448	10	0.02654	T	1	.	19.7401	0.96223	0.0:1.0:0.0:0.0	.	179;169	Q9ULW9;Q9Y233	.;PDE10_HUMAN	E	169;197;179;169;168	ENSP00000355847:G169E;ENSP00000346435:G169E	ENSP00000341187:G179E	G	-	2	0	PDE10A	165768716	1.000000	0.71417	0.985000	0.45067	0.538000	0.34931	7.471000	0.80985	2.727000	0.93392	0.591000	0.81541	GGA	PDE10A	-	pfam_GAF,smart_GAF		0.408	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	C		Missense_Mutation	165848726	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	missense	SNP	1.000	T	T	165848726	C	T	165848726	5	4	103	1	0	0	0	0	0	0	1	0	11654	869	30	1	1901	1	PDE10A	6	165848726	Splice_Site	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	14793674	165848726	5266341	97	15183										
RADIL	55698	genome.wustl.edu	37	chr7	4917599	4917599	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gacaccaggggccgacagctGggtggagagctcggcggggt	20	10	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:4917599G>A	ENST00000399583.3	-	2	359	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.Q58*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	58					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCGACAGCTGGGTGGAGAGC	0.657																																																	0													19	24	22					7																	4917599		1994	4153	6147	SO:0001587	stop_gained	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.172C>T	7.37:g.4917599G>A	ENSP00000382492:p.Gln58*		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q58*	ENST00000399583.3	37	c.172	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.501683	0.96371	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	.	.	.	5.84	5.84	0.93424	.	0.061564	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-34.5244	19.1313	0.93408	0.0:0.0:1.0:0.0	.	.	.	.	X	58;32;58;58	.	ENSP00000320946:Q32X	Q	-	1	0	RADIL	4884125	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.476000	0.97823	2.769000	0.95229	0.561000	0.74099	CAG	RADIL	-	NULL		0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	G	NM_018059		4917599	-1	no_errors	ENST00000399583	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	4917599	G	A	4917599	4	1	103	1	0	0	0	0	0	1	0	0	13027	1357	47	4	3111	4	RADIL	7	4917599	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		4917599	154221064	98	15184										
RSPH10B	728194	genome.wustl.edu	37	chr7	6820458	6820458	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agaaagagaagcccatccctCttcttgtgttttacaaaact	6	10	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:6820458C>T	ENST00000403107.1	+	13	1935	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	RSPH10B2_ENST00000297186.3_Silent_p.L516L|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000433859.2_Silent_p.L516L|RSPH10B2_ENST00000404077.1_Silent_p.L516L			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	516										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GCCCATCCCTCTTCTTGTGTT	0.408																																																	0													110	119	116					7																	6820458		2127	4203	6330	SO:0001819	synonymous_variant	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.1548C>T	7.37:g.6820458C>T			A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	pfam_MORN,smart_MORN	p.L516	ENST00000403107.1	37	c.1548	CCDS43552.1	7																																																																																			RSPH10B2	-	NULL		0.408	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	C	NM_001099697		6820458	1	no_errors	ENST00000297186	ensembl	human	known	70_37	silent	SNP	0.989	T	T	6820458	C	T	6820458	2	4	103	1	0	0	0	0	0	0	0	1	13733	900	32	1		1	RSPH10B	7	6820458	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1902859	6820458	152318205	99	15185										
GUSB	2990	genome.wustl.edu	37	chr7	65439567	65439567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgaccacaatcccatagcggTcacacatctgcatcacttcc	5	16	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:65439567T>C	ENST00000304895.4	-	7	1320	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.D251G|GUSB_ENST00000345660.6_Missense_Mutation_p.D346G	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	397					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCCATAGCGGTCACACATCTG	0.632																																																	0													106	95	99					7																	65439567		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1190A>G	7.37:g.65439567T>C	ENSP00000302728:p.Asp397Gly		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.D397G	ENST00000304895.4	37	c.1190	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951332	0.73787	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.97906	-4.6;-4.6;-4.6	4.52	4.52	0.55395	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.095002	0.64402	D	0.000001	D	0.99221	0.9729	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98633	1.0672	10	0.87932	D	0	.	13.4958	0.61426	0.0:0.0:0.0:1.0	.	251;397	E9PCV0;P08236	.;BGLR_HUMAN	G	397;251;346	ENSP00000302728:D397G;ENSP00000391390:D251G;ENSP00000340734:D346G	ENSP00000302728:D397G	D	-	2	0	GUSB	65077002	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	7.501000	0.81600	2.026000	0.59711	0.459000	0.35465	GAC	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF		0.632	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	T	NM_000181		65439567	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65439567	T	C	65439567	3	2	103	1	0	0	0	0	1	0	0	0	6922	1667	58	5	789	5	GUSB	7	65439567	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	58619109	65439567	93699096	100	15186										
CROT	54677	genome.wustl.edu	37	chr7	87022120	87022120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgttccagaactctttacgGacccacttttttccaaaagg	6	12	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:87022120G>T	ENST00000331536.3	+	16	1764	c.1579G>T	c.(1579-1581)Gac>Tac	p.D527Y	CROT_ENST00000442291.1_Missense_Mutation_p.D527Y|CROT_ENST00000419147.2_Missense_Mutation_p.D555Y	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	527					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTCTTTACGGACCCACTTTT	0.363																																																	0													96	98	97					7																	87022120		2202	4299	6501	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1579G>T	7.37:g.87022120G>T	ENSP00000331981:p.Asp527Tyr		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D527Y	ENST00000331536.3	37	c.1579	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657085	0.88154	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	T;T;T	0.58210	0.35;0.35;0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86376	0.1726	10	0.87932	D	0	-24.2717	20.6593	0.99626	0.0:0.0:1.0:0.0	.	555;527	E7EQF2;Q9UKG9	.;OCTC_HUMAN	Y	555;527;527	ENSP00000413575:D555Y;ENSP00000331981:D527Y;ENSP00000411983:D527Y	ENSP00000331981:D527Y	D	+	1	0	CROT	86860056	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	7.820000	0.86633	2.885000	0.99019	0.655000	0.94253	GAC	CROT	-	pfam_Carn_acyl_trans		0.363	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	G	NM_021151		87022120	1	no_errors	ENST00000331536	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87022120	G	T	87022120	3	4	103	1	0	0	0	0	1	0	0	0	3899	1174	41	3	1721	3	CROT	7	87022120	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	21582553	87022120	72116543	101	15187										
ABCB4	5244	genome.wustl.edu	37	chr7	87032462	87032462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cacacacaccttttcactttCagtatccagagctgatgtag	6	12	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:87032462C>T	ENST00000265723.4	-	27	3754	c.3643G>A	c.(3643-3645)Gaa>Aaa	p.E1215K	ABCB4_ENST00000545634.1_Missense_Mutation_p.E1208K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1161K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1161K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1208K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E1208K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTTCACTTTCAGTATCCAGA	0.428																																																	1	Substitution - Missense(1)	lung(1)											155	139	144					7																	87032462		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3643G>A	7.37:g.87032462C>T	ENSP00000265723:p.Glu1215Lys		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E1215K	ENST00000265723.4	37	c.3643	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538401	0.85917	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.41	4.51	0.55191	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050039	0.85682	D	0.000000	D	0.85995	0.5827	L	0.35341	1.055	0.80722	D	1	D;P;P	0.56746	0.977;0.919;0.867	P;P;P	0.55749	0.661;0.783;0.611	D	0.87922	0.2704	10	0.87932	D	0	-18.0621	16.3596	0.83257	0.0:0.8679:0.1321:0.0	.	1161;1208;1215	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	1208;1161;1215;1161;1208	ENSP00000352135:E1208K;ENSP00000351172:E1161K;ENSP00000265723:E1215K;ENSP00000392983:E1161K;ENSP00000437465:E1208K	ENSP00000265723:E1215K	E	-	1	0	ABCB4	86870398	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	6.026000	0.70873	1.372000	0.46190	0.561000	0.74099	GAA	ABCB4	-	pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87032462	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87032462	C	T	87032462	3	4	103	1	0	0	0	0	1	0	0	0	43	835	29	1	225	1	ABCB4	7	87032462	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	10342	87032462	72106201	102	15188										
LMTK2	22853	genome.wustl.edu	37	chr7	97823402	97823402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggagtgtgctgaatgcagaaCttagcagcggcgatgacttc	14	8	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:97823402C>T	ENST00000297293.5	+	11	3918	c.3625C>T	c.(3625-3627)Ctt>Ttt	p.L1209F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1209					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAATGCAGAACTTAGCAGCGG	0.597																																																	0													70	63	65					7																	97823402		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3625C>T	7.37:g.97823402C>T	ENSP00000297293:p.Leu1209Phe		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1209F	ENST00000297293.5	37	c.3625	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	C	7.264	0.605867	0.14002	.	.	ENSG00000164715	ENST00000297293	T	0.78707	-1.2	6.08	4.04	0.47022	.	1.328380	0.04375	N	0.359710	T	0.66197	0.2765	L	0.31294	0.92	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.51325	-0.8720	10	0.13108	T	0.6	.	6.5974	0.22681	0.0:0.6398:0.1628:0.1974	.	1209	Q8IWU2	LMTK2_HUMAN	F	1209	ENSP00000297293:L1209F	ENSP00000297293:L1209F	L	+	1	0	LMTK2	97661338	0.000000	0.05858	0.042000	0.18584	0.108000	0.19459	-0.016000	0.12613	1.558000	0.49541	0.655000	0.94253	CTT	LMTK2	-	NULL		0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	C	NM_014916		97823402	1	no_errors	ENST00000297293	ensembl	human	known	70_37	missense	SNP	0.001	T	T	97823402	C	T	97823402	3	4	103	1	0	0	0	0	1	0	0	0	8880	565	20	4	3667	4	LMTK2	7	97823402	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	10790940	97823402	61315261	103	15189										
MLL5	55904	genome.wustl.edu	37	chr7	104753433	104753433	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aagccttacaccacccacctCatcaaggacctccacttttt	3	17	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:104753433C>T	ENST00000311117.3	+	27	5775	c.5230C>T	c.(5230-5232)Cat>Tat	p.H1744Y	KMT2E_ENST00000334877.4_Missense_Mutation_p.H1702Y|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1744Y|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1744	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCACCCACCTCATCAAGGACC	0.547																																																	0													276	215	236					7																	104753433		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5230C>T	7.37:g.104753433C>T	ENSP00000312379:p.His1744Tyr		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.H1744Y	ENST00000311117.3	37	c.5230	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	9.089	1.001280	0.19121	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.94184	-3.36;-3.37;-3.36	3.94	3.94	0.45596	.	0.000000	0.45126	D	0.000381	D	0.93446	0.7909	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.954	D	0.94698	0.7880	10	0.62326	D	0.03	.	16.3877	0.83522	0.0:1.0:0.0:0.0	.	1664;1744	F8W6H1;Q8IZD2	.;MLL5_HUMAN	Y	1744;1702;1664;1744	ENSP00000312379:H1744Y;ENSP00000335599:H1702Y;ENSP00000257745:H1744Y	ENSP00000257745:H1744Y	H	+	1	0	MLL5	104540669	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	3.149000	0.50655	1.934000	0.56057	0.454000	0.30748	CAT	MLL5	-	NULL		0.547	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753433	1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104753433	C	T	104753433	3	4	103	1	0	0	0	0	1	0	0	0	9647	826	29	1	5328	1	MLL5	7	104753433	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6930031	104753433	54385230	104	15190										
SLC26A3	1811	genome.wustl.edu	37	chr7	107434312	107434312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agaggacaattctcttggccTtttgtggggaacagctgaaa	12	7	1	2	rs386833456		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:107434312T>C	ENST00000340010.5	-	3	330	c.146A>G	c.(145-147)aAg>aGg	p.K49R	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	49					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTCTTGGCCTTTTGTGGGGA	0.418																																																	0													95	90	92					7																	107434312		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.146A>G	7.37:g.107434312T>C	ENSP00000345873:p.Lys49Arg			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K49R	ENST00000340010.5	37	c.146	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	T	7.542	0.660906	0.14645	.	.	ENSG00000091138	ENST00000340010;ENST00000453332	D;D	0.93426	-3.22;-2.71	5.1	3.95	0.45737	.	0.153986	0.64402	N	0.000020	D	0.85362	0.5679	N	0.20685	0.6	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.76942	-0.2772	9	.	.	.	.	8.685	0.34232	0.0:0.1673:0.0:0.8327	.	49	P40879	S26A3_HUMAN	R	49	ENSP00000345873:K49R;ENSP00000395955:K49R	.	K	-	2	0	SLC26A3	107221548	1.000000	0.71417	0.984000	0.44739	0.927000	0.56198	1.029000	0.30140	0.969000	0.38237	0.402000	0.26972	AAG	SLC26A3	-	NULL		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	T	NM_000111		107434312	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.998	C	C	107434312	T	C	107434312	3	2	103	1	0	0	0	0	1	0	0	0	14548	1609	56	5	2224	5	SLC26A3	7	107434312	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	2680879	107434312	51704351	105	15191										
NUP205	23165	genome.wustl.edu	37	chr7	135282130	135282130	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttaagatactgcagaccgtGaggattccaagccaaaggca	10	9	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:135282130G>A	ENST00000285968.6	+	14	2054	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	676					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGCAGACCGTGAGGATTCCAA	0.338																																																	0													142	138	140					7																	135282130		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2028G>A	7.37:g.135282130G>A			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.V676	ENST00000285968.6	37	c.2028	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414		0.338	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135282130	1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	0.835	A	A	135282130	G	A	135282130	2	1	103	1	0	0	0	0	0	0	0	1	10783	1277	45	1		1	NUP205	7	135282130	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	27847818	135282130	23856533	106	15192										
UBE3C	9690	genome.wustl.edu	37	chr7	157023913	157023913	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttaaccccaaccaggggttCtttaagactactaatgaagg	8	9	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:157023913C>T	ENST00000348165.5	+	18	2733	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	791	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACCAGGGGTTCTTTAAGACTA	0.463																																																	0													66	69	68					7																	157023913		2203	4300	6503	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2373C>T	7.37:g.157023913C>T			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.F791	ENST00000348165.5	37	c.2373	CCDS34789.1	7																																																																																			UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.463	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	C	NM_014671		157023913	1	no_errors	ENST00000348165	ensembl	human	known	70_37	silent	SNP	1.000	T	T	157023913	C	T	157023913	2	4	103	1	0	0	0	0	0	0	0	1	16912	912	32	1		1	UBE3C	7	157023913	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	21741783	157023913	2114750	107	15193										
ARHGEF10	9639	genome.wustl.edu	37	chr8	1876769	1876769	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaccccgagaccccggccgtGagagcttctgatgtccccac	11	17	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:1876769G>A	ENST00000398564.1	+	24	2949	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ARHGEF10_ENST00000518288.1_Silent_p.V982V|ARHGEF10_ENST00000520359.1_Silent_p.V920V|ARHGEF10_ENST00000349830.3_Silent_p.V958V|ARHGEF10_ENST00000262112.6_Silent_p.V954V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	983					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCGGCCGTGAGAGCTTCTG	0.612																																																	0													53	53	53					8																	1876769		2203	4300	6503	SO:0001819	synonymous_variant	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2949G>A	8.37:g.1876769G>A			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.V983	ENST00000398564.1	37	c.2949		8																																																																																			ARHGEF10	-	superfamily_WD40_repeat_dom		0.612	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		G			1876769	1	no_errors	ENST00000398564	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1876769	G	A	1876769	2	1	103	1	0	0	0	0	0	0	0	1	894	1277	45	1		1	ARHGEF10	8	1876769	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		1876769	144487253	108	15194										
MFHAS1	9258	genome.wustl.edu	37	chr8	8750098	8750098	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tccagctcctccaggtgagcGagagcgcccagctgggcggg	16	14	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:8750098G>A	ENST00000276282.6	-	1	1057	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	157										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGGTGAGCGAGAGCGCCCA	0.687																																					Melanoma(103;1201 2045 17515 28966)												0																																										SO:0001819	synonymous_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.471C>T	8.37:g.8750098G>A			Q96CI0	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L157	ENST00000276282.6	37	c.471	CCDS34844.1	8																																																																																			MFHAS1	-	smart_Leu-rich_rpt_typical-subtyp		0.687	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2	G	NM_004225		8750098	-1	no_errors	ENST00000276282	ensembl	human	known	70_37	silent	SNP	0.183	A	A	8750098	G	A	8750098	2	1	103	1	0	0	0	0	0	0	0	1	9544	1045	37	1		1	MFHAS1	8	8750098	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6873329	8750098	137613924	109	15195										
LGI3	203190	genome.wustl.edu	37	chr8	22009485	22009485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	caaccacttcaccttgcagtCacagttgagtgagttgcccc	8	14	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:22009485C>G	ENST00000306317.2	-	6	812	c.523G>C	c.(523-525)Gac>Cac	p.D175H	LGI3_ENST00000424267.2_Missense_Mutation_p.D151H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	175	LRRCT.				exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACCTTGCAGTCACAGTTGAGT	0.627																																																	0													50	52	51					8																	22009485		2203	4299	6502	SO:0001583	missense	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.523G>C	8.37:g.22009485C>G	ENSP00000302297:p.Asp175His		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.D175H	ENST00000306317.2	37	c.523	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293253	0.80914	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	D;D;D	0.91407	-2.84;-2.84;-2.84	4.85	4.85	0.62838	Cysteine-rich flanking region, C-terminal (1);	0.060803	0.64402	D	0.000004	D	0.96784	0.8950	H	0.96398	3.815	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.98087	1.0407	10	0.87932	D	0	-27.2671	15.4594	0.75342	0.0:1.0:0.0:0.0	.	151;175	A5PLP2;Q8N145	.;LGI3_HUMAN	H	175;151;136	ENSP00000302297:D175H;ENSP00000399121:D151H;ENSP00000427817:D136H	ENSP00000302297:D175H	D	-	1	0	LGI3	22065430	1.000000	0.71417	0.983000	0.44433	0.875000	0.50365	7.798000	0.85924	2.228000	0.72767	0.462000	0.41574	GAC	LGI3	-	smart_Cys-rich_flank_reg_C		0.627	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	C			22009485	-1	no_errors	ENST00000306317	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22009485	C	G	22009485	3	3	103	1	0	0	0	0	1	0	0	0	8773	826	29	1	1135	1	LGI3	8	22009485	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	13259387	22009485	124354537	110	15196										
TNFRSF10A	8797	genome.wustl.edu	37	chr8	23054708	23054708	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctctgagacccttcagcttCtgccggtccctgtaacacac	7	17	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:23054708C>G	ENST00000221132.3	-	9	1088	c.1024G>C	c.(1024-1026)Gaa>Caa	p.E342Q		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	342					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCTTCAGCTTCTGCCGGTCCC	0.557																																																	0													145	125	131					8																	23054708		2203	4300	6503	SO:0001583	missense	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1024G>C	8.37:g.23054708C>G	ENSP00000221132:p.Glu342Gln		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.E342Q	ENST00000221132.3	37	c.1024	CCDS6039.1	8	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384886	0.25031	.	.	ENSG00000104689	ENST00000221132	D	0.84070	-1.8	2.81	-2.66	0.06077	.	1.640880	0.03370	U	0.198776	T	0.81394	0.4813	L	0.61218	1.895	0.09310	N	1	D	0.59357	0.985	P	0.47206	0.541	T	0.69610	-0.5099	10	0.59425	D	0.04	.	3.6974	0.08369	0.0:0.3678:0.194:0.4383	.	342	O00220	TR10A_HUMAN	Q	342	ENSP00000221132:E342Q	ENSP00000221132:E342Q	E	-	1	0	TNFRSF10A	23110653	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.586000	0.05787	-0.835000	0.04234	0.491000	0.48974	GAA	TNFRSF10A	-	pirsf_TNFR_10		0.557	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	C	NM_003844		23054708	-1	no_errors	ENST00000221132	ensembl	human	known	70_37	missense	SNP	0.000	G	G	23054708	C	G	23054708	3	3	103	1	0	0	0	0	1	0	0	0	16310	922	32	1	390	1	TNFRSF10A	8	23054708	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1045223	23054708	123309314	111	15197										
ADAM7	8756	genome.wustl.edu	37	chr8	24324484	24324484	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	caggggataatgaatctgaaGaagactccaaaataaaagtg	10	5	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:24324484G>A	ENST00000175238.6	+	6	645	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ADAM7_ENST00000441335.2_Missense_Mutation_p.E188K|ADAM7_ENST00000380789.1_Missense_Mutation_p.E188K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAATCTGAAGAAGACTCCAA	0.358																																																	0													71	77	75					8																	24324484		2203	4300	6503	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.562G>A	8.37:g.24324484G>A	ENSP00000175238:p.Glu188Lys		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E188K	ENST00000175238.6	37	c.562	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	2.383	-0.341723	0.05243	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.27720	2.2;1.65;1.65	4.51	1.54	0.23209	.	0.990647	0.08202	N	0.982123	T	0.15869	0.0382	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.33548	-0.9864	10	0.06757	T	0.87	.	4.1638	0.10296	0.2206:0.1903:0.5891:0.0	.	188;188	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	K	188	ENSP00000393073:E188K;ENSP00000175238:E188K;ENSP00000370166:E188K	ENSP00000175238:E188K	E	+	1	0	ADAM7	24380374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.532000	0.23067	0.332000	0.23536	0.563000	0.77884	GAA	ADAM7	-	NULL		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817		24324484	1	no_errors	ENST00000175238	ensembl	human	known	70_37	missense	SNP	0.000	A	A	24324484	G	A	24324484	3	1	103	1	0	0	0	0	1	0	0	0	251	943	33	1	584	1	ADAM7	8	24324484	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1269776	24324484	122039538	112	15198										
NSMAF	8439	genome.wustl.edu	37	chr8	59547876	59547876	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgacatactttgtgaagtgtCtattggctccattttctcca	7	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:59547876C>G	ENST00000038176.3	-	4	496	c.284G>C	c.(283-285)aGa>aCa	p.R95T	NSMAF_ENST00000427130.2_Missense_Mutation_p.R126T	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	95					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGTGAAGTGTCTATTGGCTCC	0.294																																																	0													95	96	96					8																	59547876		2203	4294	6497	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.284G>C	8.37:g.59547876C>G	ENSP00000038176:p.Arg95Thr		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R126T	ENST00000038176.3	37	c.377	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815412	0.16607	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.53640	0.62;0.61	5.61	2.76	0.32466	.	0.338100	0.38217	N	0.001777	T	0.27419	0.0673	N	0.25647	0.755	0.23962	N	0.996336	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13872	-1.0493	9	.	.	.	.	3.6671	0.08260	0.1694:0.5194:0.0:0.3111	.	126;95;95	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	T	95;126	ENSP00000038176:R95T;ENSP00000411012:R126T	.	R	-	2	0	NSMAF	59710430	0.307000	0.24500	0.705000	0.30386	0.987000	0.75469	-0.045000	0.12003	0.279000	0.22186	0.585000	0.79938	AGA	NSMAF	-	NULL		0.294	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	C	NM_003580		59547876	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	0.935	G	G	59547876	C	G	59547876	3	3	103	1	0	0	0	0	1	0	0	0	10698	913	32	1	2581	1	NSMAF	8	59547876	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	35223392	59547876	86816146	113	15199										
PGCP	10404	genome.wustl.edu	37	chr8	97847330	97847330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaggacggtgcaataccgaaCgcagggggcggtggaagctg	18	8	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:97847330C>T	ENST00000220763.5	+	3	773	c.563C>T	c.(562-564)aCg>aTg	p.T188M		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	188					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CAATACCGAACGCAGGGGGCG	0.498																																																	0													101	99	100					8																	97847330		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.563C>T	8.37:g.97847330C>T	ENSP00000220763:p.Thr188Met		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.T188M	ENST00000220763.5	37	c.563	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466427	0.04476	.	.	ENSG00000104324	ENST00000220763	T	0.45276	0.9	5.63	-1.26	0.09376	.	1.335560	0.04718	N	0.418871	T	0.20740	0.0499	N	0.19112	0.55	0.09310	N	1	B;B	0.34399	0.452;0.019	B;B	0.20384	0.029;0.018	T	0.11397	-1.0589	10	0.37606	T	0.19	-16.6891	1.8025	0.03074	0.1138:0.2966:0.2174:0.3722	.	188;188	B5MDX4;Q9Y646	.;PGCP_HUMAN	M	188	ENSP00000220763:T188M	ENSP00000220763:T188M	T	+	2	0	AC010859.1	97916506	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.083000	0.11286	-0.135000	0.11495	-0.302000	0.09304	ACG	CPQ	-	NULL		0.498	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	C	NM_016134		97847330	1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	0.000	T	T	97847330	C	T	97847330	3	4	103	1	0	0	0	0	1	0	0	0	11810	536	19	2	569	2	PGCP	8	97847330	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	38299454	97847330	48516692	114	15200										
AK3	50808	genome.wustl.edu	37	chr9	4741035	4741035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acgacacggtgcccttgcccGagcccggggcccccatgatc	12	18	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:4741035G>C	ENST00000381809.3	-	1	283	c.53C>G	c.(52-54)tCg>tGg	p.S18W	AK3_ENST00000447596.4_Missense_Mutation_p.S18W|AK3_ENST00000359883.2_Intron	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	16					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GCCCTTGCCCGAGCCCGGGGC	0.706																																																	0													21	19	20					9																	4741035		2196	4291	6487	SO:0001583	missense	50808			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.53C>G	9.37:g.4741035G>C	ENSP00000371230:p.Ser18Trp		B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.S18W	ENST00000381809.3	37	c.53	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990510	0.93106	.	.	ENSG00000147853	ENST00000381809;ENST00000447596	T;T	0.58652	0.32;0.32	4.45	4.45	0.53987	.	0.062431	0.64402	D	0.000003	D	0.83986	0.5373	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90054	0.4151	10	0.87932	D	0	-11.5406	16.8494	0.85990	0.0:0.0:1.0:0.0	.	18;18	E7ET30;Q9UIJ7	.;KAD3_HUMAN	W	18	ENSP00000371230:S18W;ENSP00000413933:S18W	ENSP00000371230:S18W	S	-	2	0	AK3	4731035	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.879000	0.69690	2.287000	0.76781	0.462000	0.41574	TCG	AK3	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub		0.706	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1	G	NM_016282		4741035	-1	no_errors	ENST00000381809	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4741035	G	C	4741035	3	2	103	1	0	0	0	0	1	0	0	0	441	1059	37	1	650	1	AK3	9	4741035	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		4741035	136472396	115	15201										
PSIP1	11168	genome.wustl.edu	37	chr9	15490010	15490010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acttgaaaatttcacttttgGattgttatctatctcccata	4	8	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:15490010G>A	ENST00000380733.4	-	4	605	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PSIP1_ENST00000380738.4_Missense_Mutation_p.P88S|PSIP1_ENST00000380716.4_Missense_Mutation_p.P88S|PSIP1_ENST00000397519.2_Missense_Mutation_p.P88S|PSIP1_ENST00000380715.1_Missense_Mutation_p.P88S			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	88					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCACTTTTGGATTGTTATCT	0.294																																																	0													85	78	81					9																	15490010		2203	4297	6500	SO:0001583	missense	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.262C>T	9.37:g.15490010G>A	ENSP00000370109:p.Pro88Ser		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS	p.P88S	ENST00000380733.4	37	c.262	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788356	0.90367	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	L	0.55743	1.74	0.80722	D	1	D;P;P	0.65815	0.995;0.87;0.573	D;P;P	0.76575	0.988;0.791;0.601	T	0.82600	-0.0377	10	0.72032	D	0.01	.	20.3009	0.98609	0.0:0.0:1.0:0.0	.	88;88;88	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	S	88	ENSP00000370109:P88S;ENSP00000370114:P88S;ENSP00000370091:P88S;ENSP00000370092:P88S;ENSP00000380653:P88S	ENSP00000370091:P88S	P	-	1	0	PSIP1	15480010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.514000	0.98013	2.809000	0.96659	0.555000	0.69702	CCA	PSIP1	-	NULL		0.294	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	G	NM_033222		15490010	-1	no_errors	ENST00000380733	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15490010	G	A	15490010	3	1	103	1	0	0	0	0	1	0	0	0	12690	1174	41	1	1411	1	PSIP1	9	15490010	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	10748975	15490010	125723421	116	15202										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18574130	18574130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aatggcttcctgtgtctaatGaccctgacaacccatgttca	7	12	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:18574130G>A	ENST00000380548.4	+	4	679	c.340G>A	c.(340-342)Gac>Aac	p.D114N	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D114N|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D114N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D114N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D114N|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.D114N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	114						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTGTCTAATGACCCTGACAA	0.483																																																	0													173	150	157					9																	18574130		2203	4300	6503	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.340G>A	9.37:g.18574130G>A	ENSP00000369921:p.Asp114Asn		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.D114N	ENST00000380548.4	37	c.340	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.436471	0.96168	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.59083	3.9;0.29;0.29;0.29;0.29;0.29	5.25	5.25	0.73442	.	.	.	.	.	T	0.75191	0.3816	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.69307	0.963;0.96	T	0.72014	-0.4418	9	0.29301	T	0.29	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	114;114	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	N	114	ENSP00000369921:D114N;ENSP00000327887:D114N;ENSP00000401157:D114N;ENSP00000369944:D114N;ENSP00000369940:D114N;ENSP00000276935:D114N	ENSP00000276935:D114N	D	+	1	0	ADAMTSL1	18564130	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.710000	0.98732	2.620000	0.88729	0.643000	0.83706	GAC	ADAMTSL1	-	NULL		0.483	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18574130	1	no_errors	ENST00000327883	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18574130	G	A	18574130	3	1	103	1	0	0	0	0	1	0	0	0	274	1290	45	1	354	1	ADAMTSL1	9	18574130	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3084120	18574130	122639301	117	15203										
HAUS6	54801	genome.wustl.edu	37	chr9	19082873	19082873	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttaatatcaaatgcttacctGaaacatttgtttctcaattt	3	7	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:19082873G>A	ENST00000380502.3	-	8	1335	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	HAUS6_ENST00000380496.1_Nonsense_Mutation_p.Q154*	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	290					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGCTTACCTGAAACATTTGT	0.308																																																	0													43	43	43					9																	19082873		2203	4300	6503	SO:0001587	stop_gained	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.868C>T	9.37:g.19082873G>A	ENSP00000369871:p.Gln290*		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	NULL	p.Q290*	ENST00000380502.3	37	c.868	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464571	0.84425	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.6	3.61	0.41365	.	0.457213	0.25514	N	0.030157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.9664	11.1083	0.48216	0.0:0.0:0.5397:0.4603	.	.	.	.	X	290;154	.	ENSP00000369865:Q154X	Q	-	1	0	HAUS6	19072873	0.950000	0.32346	0.996000	0.52242	0.739000	0.42172	0.814000	0.27239	1.315000	0.45114	0.655000	0.94253	CAG	HAUS6	-	NULL		0.308	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	G	NM_017645		19082873	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	nonsense	SNP	0.988	A	A	19082873	G	A	19082873	4	1	103	1	0	0	0	0	0	1	0	0	6990	1299	45	1	2039	1	HAUS6	9	19082873	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	508743	19082873	122130558	118	15204										
NOL6	65083	genome.wustl.edu	37	chr9	33466916	33466916	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccaagacccttacctctttCaggccttggataagtgcatc	7	14	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:33466916C>G	ENST00000379471.2	-	15	2031	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	NOL6_ENST00000455041.2_Silent_p.L596L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	648					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTACCTCTTTCAGGCCTTGGA	0.527											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													220	237	231					9																	33466916		2203	4300	6503	SO:0001819	synonymous_variant	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1944G>C	9.37:g.33466916C>G		840	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	pfam_Nrap	p.L648	ENST00000379471.2	37	c.1944		9																																																																																			NOL6	-	pfam_Nrap		0.527	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	C	NM_022917		33466916	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	silent	SNP	0.000	G	G	33466916	C	G	33466916	2	3	103	1	0	0	0	0	0	0	0	1	10549	813	29	1		1	NOL6	9	33466916	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	14384043	33466916	107746515	119	15205										
KIF24	347240	genome.wustl.edu	37	chr9	34286656	34286656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtccacctgaagctcttgcaGtcccactatctgcaccatgt	7	15	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:34286656G>T	ENST00000402558.2	-	5	1198	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	KIF24_ENST00000379166.2_Missense_Mutation_p.L392M|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron			Q5T7B8	KIF24_HUMAN	kinesin family member 24	392	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGCTCTTGCAGTCCCACTATC	0.438																																																	0													120	118	119					9																	34286656		1947	4155	6102	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1174C>A	9.37:g.34286656G>T	ENSP00000384433:p.Leu392Met		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L392M	ENST00000402558.2	37	c.1174	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845586	0.51164	.	.	ENSG00000186638	ENST00000402558;ENST00000379166;ENST00000420188	T;T	0.80653	-1.4;-1.4	5.58	3.38	0.38709	Kinesin, motor domain (4);	.	.	.	.	D	0.91267	0.7247	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92797	0.6253	9	0.87932	D	0	.	12.17	0.54152	0.0749:0.124:0.801:0.0	.	392;392	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	M	392	ENSP00000384433:L392M;ENSP00000368464:L392M	ENSP00000368464:L392M	L	-	1	2	KIF24	34276656	1.000000	0.71417	0.958000	0.39756	0.432000	0.31715	3.377000	0.52425	1.335000	0.45486	-0.302000	0.09304	CTG	KIF24	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.438	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	G			34286656	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	0.998	T	T	34286656	G	T	34286656	3	4	103	1	0	0	0	0	1	0	0	0	8312	1020	36	4	2964	4	KIF24	9	34286656	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	819740	34286656	106926775	120	15206										
GBA2	57704	genome.wustl.edu	37	chr9	35748398	35748398	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tagggagacgttgttagcttGaaagggtttcctcttctctg	12	7	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:35748398G>C	ENST00000378103.3	-	1	827	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	GBA2_ENST00000378094.4_Missense_Mutation_p.Q102E|GBA2_ENST00000545786.1_Missense_Mutation_p.Q102E|RGP1_ENST00000456972.2_5'Flank|RGP1_ENST00000378078.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	102					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGTTAGCTTGAAAGGGTTTC	0.483																																																	0													98	84	89					9																	35748398		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.304C>G	9.37:g.35748398G>C	ENSP00000367343:p.Gln102Glu		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.Q102E	ENST00000378103.3	37	c.304	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965593	0.53507	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.78	1.35	0.21983	.	0.672023	0.15431	N	0.262687	T	0.44582	0.1300	L	0.34521	1.04	0.41383	D	0.987563	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.18561	0.022;0.014;0.01	T	0.27806	-1.0063	9	0.33141	T	0.24	-0.011	11.6428	0.51244	0.0:0.1071:0.6435:0.2494	.	102;102;102	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	E	102	.	ENSP00000367334:Q102E	Q	-	1	0	GBA2	35738398	1.000000	0.71417	0.989000	0.46669	0.880000	0.50808	0.672000	0.25187	0.346000	0.23899	0.591000	0.81541	CAA	GBA2	-	pirsf_Beta_glucosidase_GBA2-type		0.483	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	G	NM_020944		35748398	-1	no_errors	ENST00000545786	ensembl	human	known	70_37	missense	SNP	0.999	C	C	35748398	G	C	35748398	3	2	103	1	0	0	0	0	1	0	0	0	6286	1299	45	1	2547	1	GBA2	9	35748398	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1461742	35748398	105465033	121	15207										
GDA	9615	genome.wustl.edu	37	chr9	74817635	74817635	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tccagaacatcgactttgcaGaagaagtatataccagagtt	8	8	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:74817635G>A	ENST00000358399.3	+	3	454	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	GDA_ENST00000238018.4_Missense_Mutation_p.E121K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.E47K|GDA_ENST00000376986.1_Missense_Mutation_p.E79K|GDA_ENST00000376989.3_Missense_Mutation_p.E96K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	121					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CGACTTTGCAGAAGAAGTATA	0.408																																																	0													217	198	205					9																	74817635		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.361G>A	9.37:g.74817635G>A	ENSP00000351170:p.Glu121Lys		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.E121K	ENST00000358399.3	37	c.361	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054083	0.19907	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	5.62	5.62	0.85841	Amidohydrolase 1 (1);	0.266015	0.43747	D	0.000523	T	0.80428	0.4621	N	0.25094	0.71	0.44976	D	0.997999	B;B;B	0.23442	0.022;0.069;0.085	B;B;B	0.19391	0.017;0.015;0.025	T	0.74630	-0.3601	10	0.15952	T	0.53	-19.3734	12.928	0.58270	0.0738:0.0:0.9262:0.0	.	79;121;121	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	47;121;96;79;121	ENSP00000437972:E47K;ENSP00000238018:E121K;ENSP00000366188:E96K;ENSP00000366185:E79K;ENSP00000351170:E121K	ENSP00000238018:E121K	E	+	1	0	GDA	74007455	0.998000	0.40836	0.998000	0.56505	0.027000	0.11550	2.997000	0.49457	2.659000	0.90383	0.655000	0.94253	GAA	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase		0.408	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	G			74817635	1	no_errors	ENST00000238018	ensembl	human	known	70_37	missense	SNP	0.997	A	A	74817635	G	A	74817635	3	1	103	1	0	0	0	0	1	0	0	0	6325	943	33	1	371	1	GDA	9	74817635	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	39069237	74817635	66395796	122	15208										
TMC1	117531	genome.wustl.edu	37	chr9	75315537	75315537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aatgcaaaccatggaagatgGagaagaaaattgaagttctc	10	5	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:75315537G>A	ENST00000297784.5	+	8	880	c.340G>A	c.(340-342)Gag>Aag	p.E114K	TMC1_ENST00000340019.3_Missense_Mutation_p.E114K|TMC1_ENST00000396237.3_Missense_Mutation_p.E114K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	114	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGGAAGATGGAGAAGAAAAT	0.323																																					Pancreas(75;173 1345 14232 34245 43413)												0													90	92	91					9																	75315537		2203	4298	6501	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.340G>A	9.37:g.75315537G>A	ENSP00000297784:p.Glu114Lys		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.E114K	ENST00000297784.5	37	c.340	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	G	6.134	0.392922	0.11638	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000542143;ENST00000396237	T;T;T	0.14266	2.52;2.52;2.52	5.56	4.6	0.57074	.	0.200925	0.43260	D	0.000599	T	0.03827	0.0108	N	0.02539	-0.55	0.30853	N	0.734391	B	0.09022	0.002	B	0.08055	0.003	T	0.37798	-0.9690	10	0.06099	T	0.92	-19.1325	5.5472	0.17071	0.1583:0.1749:0.6668:0.0	.	114	Q8TDI8	TMC1_HUMAN	K	114;114;108;114	ENSP00000297784:E114K;ENSP00000341433:E114K;ENSP00000379538:E114K	ENSP00000297784:E114K	E	+	1	0	TMC1	74505357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.665000	0.46791	2.771000	0.95319	0.563000	0.77884	GAG	TMC1	-	NULL		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	G			75315537	1	no_errors	ENST00000297784	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75315537	G	A	75315537	3	1	103	1	0	0	0	0	1	0	0	0	16014	1175	41	1	354	1	TMC1	9	75315537	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	497902	75315537	65897894	123	15209										
VPS13A	23230	genome.wustl.edu	37	chr9	79929019	79929019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctcaccatggtgctgtataGtccaggtcctaaacaggtaa	9	10	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:79929019G>A	ENST00000360280.3	+	36	4486	c.4226G>A	c.(4225-4227)aGt>aAt	p.S1409N	VPS13A_ENST00000376636.3_Missense_Mutation_p.S1370N|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1409N|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1409N|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1409					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCTGTATAGTCCAGGTCCT	0.358																																																	0													108	83	91					9																	79929019		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4226G>A	9.37:g.79929019G>A	ENSP00000353422:p.Ser1409Asn		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S1409N	ENST00000360280.3	37	c.4226	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250298	0.39797	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.05;0.88;0.96;1.05	5.44	5.44	0.79542	.	0.166803	0.50627	D	0.000112	T	0.48768	0.1518	L	0.28556	0.865	0.80722	D	1	B;D;D;D	0.76494	0.097;0.998;0.999;0.997	B;P;D;P	0.65233	0.061;0.859;0.933;0.881	T	0.20140	-1.0284	10	0.07482	T	0.82	.	19.2332	0.93847	0.0:0.0:1.0:0.0	.	1370;1409;1409;1409	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	1409;1370;1409;1409	ENSP00000365821:S1409N;ENSP00000365823:S1370N;ENSP00000353422:S1409N;ENSP00000349985:S1409N	ENSP00000349985:S1409N	S	+	2	0	VPS13A	79118839	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.314000	0.65804	2.708000	0.92522	0.650000	0.86243	AGT	VPS13A	-	NULL		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79929019	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79929019	G	A	79929019	3	1	103	1	0	0	0	0	1	0	0	0	17220	1029	36	4	4368	4	VPS13A	9	79929019	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4613482	79929019	61284412	124	15210										
FLJ46321	389763	genome.wustl.edu	37	chr9	84606145	84606145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttctcccaccacatcacattGagagagtggagtccagcctc	8	14	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:84606145G>A	ENST00000344803.2	+	4	807	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	254					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACATCACATTGAGAGAGTGGA	0.517																																																	0													255	236	242					9																	84606145		1923	4120	6043	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.760G>A	9.37:g.84606145G>A	ENSP00000341988:p.Glu254Lys			Missense_Mutation	SNP	NULL	p.E254K	ENST00000344803.2	37	c.760	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692978	0.15039	.	.	ENSG00000214929	ENST00000344803	T	0.05258	3.47	2.96	2.06	0.26882	.	1.877400	0.02681	N	0.109670	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.37220	-0.9715	10	0.11485	T	0.65	-0.0634	8.0876	0.30782	0.0:0.7451:0.2549:0.0	.	254	Q6ZQQ2	F75D1_HUMAN	K	254	ENSP00000341988:E254K	ENSP00000341988:E254K	E	+	1	0	FAM75D1	83795965	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.143000	0.16115	0.836000	0.34901	-0.140000	0.14226	GAG	SPATA31D1	-	NULL		0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84606145	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.001	A	A	84606145	G	A	84606145	3	1	103	1	0	0	0	0	1	0	0	0	5950	1291	45	1	774	1	FLJ46321	9	84606145	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4677126	84606145	56607286	125	15211										
TEX10	54881	genome.wustl.edu	37	chr9	103065971	103065971	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttggtcaacatatgagtcctGaggggtgcatgctgaagcag	14	7	1	3	rs191855673		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:103065971G>A	ENST00000374902.4	-	14	2795	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Silent_p.L857L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	873						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGAGTCCTGAGGGGTGCAT	0.527																																																	0													175	168	171					9																	103065971		2203	4300	6503	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2619C>T	9.37:g.103065971G>A			B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L873	ENST00000374902.4	37	c.2619	CCDS6748.1	9																																																																																			TEX10	-	NULL		0.527	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	G	NM_017746		103065971	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	silent	SNP	0.896	A	A	103065971	G	A	103065971	2	1	103	1	0	0	0	0	0	0	0	1	15802	1277	45	1		1	TEX10	9	103065971	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	18459826	103065971	38147460	126	15212										
RAD23B	5887	genome.wustl.edu	37	chr9	110087185	110087185	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcaagaagctggtggtcaagGaggaggaggtggaggtggca	20	4	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:110087185G>C	ENST00000358015.3	+	9	1367	c.1016G>C	c.(1015-1017)gGa>gCa	p.G339A	RAD23B_ENST00000416373.2_Missense_Mutation_p.G267A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	339	Poly-Gly.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGTGGTCAAGGAGGAGGAGGT	0.428								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													83	71	75					9																	110087185		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1016G>C	9.37:g.110087185G>C	ENSP00000350708:p.Gly339Ala		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.G339A	ENST00000358015.3	37	c.1016	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262068	0.39995	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18502	2.25;2.21	5.5	5.5	0.81552	XPC-binding domain (2);UBA-like (1);	0.217344	0.46758	D	0.000268	T	0.14485	0.0350	L	0.29908	0.895	0.80722	D	1	P;D;B	0.54397	0.793;0.966;0.434	B;B;B	0.40940	0.262;0.344;0.267	T	0.08371	-1.0725	10	0.15066	T	0.55	-5.1016	19.762	0.96323	0.0:0.0:1.0:0.0	.	318;339;339	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	A	339;267	ENSP00000350708:G339A;ENSP00000405623:G267A	ENSP00000350708:G339A	G	+	2	0	RAD23B	109127006	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.490000	0.45294	2.741000	0.93983	0.650000	0.86243	GGA	RAD23B	-	superfamily_XPC-bd,superfamily_UBA-like,tigrfam_Rad23		0.428	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	G	NM_002874		110087185	1	no_errors	ENST00000358015	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110087185	G	C	110087185	3	2	103	1	0	0	0	0	1	0	0	0	13013	1174	41	1	1050	1	RAD23B	9	110087185	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	7021214	110087185	31126246	127	15213										
ZNF483	158399	genome.wustl.edu	37	chr9	114305025	114305025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atcagagaattcacactggaGaaaaaccatatttgtgtaat	7	6	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:114305025G>A	ENST00000309235.5	+	6	1968	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCACACTGGAGAAAAACCATA	0.388																																																	0													57	61	59					9																	114305025		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1810G>A	9.37:g.114305025G>A	ENSP00000311679:p.Glu604Lys		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E604K	ENST00000309235.5	37	c.1810	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900057	0.92035	.	.	ENSG00000173258	ENST00000309235	T	0.24350	1.86	3.84	3.84	0.44239	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000210	T	0.40645	0.1125	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.26224	-1.0109	10	0.62326	D	0.03	-26.8906	14.0547	0.64761	0.0:0.0:1.0:0.0	.	604	Q8TF39	ZN483_HUMAN	K	604	ENSP00000311679:E604K	ENSP00000311679:E604K	E	+	1	0	ZNF483	113344846	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.397000	0.66302	2.436000	0.82500	0.655000	0.94253	GAA	ZNF483	-	pfscan_Znf_C2H2		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	G	XM_088567		114305025	1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114305025	G	A	114305025	3	1	103	1	0	0	0	0	1	0	0	0	17966	943	33	1	1828	1	ZNF483	9	114305025	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4217840	114305025	26908406	128	15214										
CEP110	11064	genome.wustl.edu	37	chr9	123917162	123917162	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	accgactcctggcagaggctGagagtgaactttcatgcact	11	11	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:123917162G>A	ENST00000373855.1	+	27	4596	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1446K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373844.1_5'Flank			Q7Z7A1	CNTRL_HUMAN	centriolin	1446					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E1446K(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGCAGAGGCTGAGAGTGAACT	0.463																																																	1	Substitution - Missense(1)	lung(1)											205	185	192					9																	123917162		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4336G>A	9.37:g.123917162G>A	ENSP00000362962:p.Glu1446Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1446K	ENST00000373855.1	37	c.4336	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002170	0.93227	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;D	0.82167	0.8;0.8;0.8;0.8;-1.58	5.58	5.58	0.84498	.	.	.	.	.	D	0.85155	0.5632	M	0.61703	1.905	0.48830	D	0.999711	D	0.58620	0.983	P	0.51016	0.656	T	0.82843	-0.0257	9	0.27785	T	0.31	.	16.0216	0.80499	0.0:0.1342:0.8658:0.0	.	1446	Q7Z7A1	CNTRL_HUMAN	K	1446;1446;1446;202;894;894;115;115	ENSP00000362962:E1446K;ENSP00000238341:E1446K;ENSP00000362956:E894K;ENSP00000362953:E894K;ENSP00000413014:E115K	ENSP00000238341:E1446K	E	+	1	0	CNTRL	122956983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.978000	0.70501	2.769000	0.95229	0.655000	0.94253	GAG	CNTRL	-	NULL		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123917162	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123917162	G	A	123917162	3	1	103	1	0	0	0	0	1	0	0	0	3250	1291	45	1	4434	1	CEP110	9	123917162	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	9612137	123917162	17296269	129	15215										
TRUB2	26995	genome.wustl.edu	37	chr9	131071960	131071960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctccagctctgcagctacctGaggggtagcagcccggatag	13	13	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:131071960G>A	ENST00000372890.4	-	8	1198	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	TRUB2_ENST00000460320.1_5'Flank|TRUB2_ENST00000546104.1_Nonsense_Mutation_p.Q233*	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652																																																	0													53	51	51					9																	131071960		2203	4300	6503	SO:0001587	stop_gained	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.865C>T	9.37:g.131071960G>A	ENSP00000361982:p.Gln289*		B7Z7G5	Nonsense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.Q289*	ENST00000372890.4	37	c.865	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675417	0.88445	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	.	.	.	5.68	3.85	0.44370	.	0.296736	0.29594	N	0.011707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-20.5685	10.6271	0.45514	0.0:0.1119:0.5714:0.3167	.	.	.	.	X	289;233	.	ENSP00000361982:Q289X	Q	-	1	0	TRUB2	130111781	1.000000	0.71417	0.986000	0.45419	0.386000	0.30323	3.358000	0.52284	0.753000	0.32945	0.561000	0.74099	CAG	TRUB2	-	superfamily_PsdUridine_synth_cat_dom		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	G	NM_015679		131071960	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	131071960	G	A	131071960	4	1	103	1	0	0	0	0	0	1	0	0	16634	1299	45	1	134	1	TRUB2	9	131071960	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	7154798	131071960	10141471	130	15216										
FNBP1	23048	genome.wustl.edu	37	chr9	132665171	132665171	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaatttctgggtctctactcGcagtttctctatattttggc	7	9	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:132665171G>A	ENST00000446176.2	-	13	1591	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	FNBP1_ENST00000443566.2_Nonsense_Mutation_p.R97*|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000420781.1_Nonsense_Mutation_p.R460*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.R440*	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	469	Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTCTCTACTCGCAGTTTCTCT	0.433			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													110	101	104					9																	132665171		1840	4098	5938	SO:0001587	stop_gained	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1405C>T	9.37:g.132665171G>A	ENSP00000413625:p.Arg469*		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Nonsense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.R469*	ENST00000446176.2	37	c.1405	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.718584	0.96839	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.	.	.	5.76	-1.35	0.09114	.	0.181621	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.023	17.2764	0.87116	0.0:0.0:0.343:0.657	.	.	.	.	X	469;469;460;469;97;440	.	ENSP00000347907:R440X	R	-	1	2	FNBP1	131704992	0.969000	0.33509	0.145000	0.22337	0.508000	0.34012	1.619000	0.36965	-0.211000	0.10124	-0.274000	0.10170	CGA	FNBP1	-	superfamily_HR1_rho-bd		0.433	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	G			132665171	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	nonsense	SNP	0.866	A	A	132665171	G	A	132665171	4	1	103	1	0	0	0	0	0	1	0	0	5983	1095	38	2	468	2	FNBP1	9	132665171	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1593211	132665171	8548260	131	15217										
BAT2L1	84726	genome.wustl.edu	37	chr9	134362574	134362574	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gccgccgctgcccagcagatCccgatctcccttcacacatc	7	20	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:134362574C>T	ENST00000357304.4	+	26	5932	c.5877C>T	c.(5875-5877)atC>atT	p.I1959I	PRRC2B_ENST00000458550.1_Silent_p.I1265I|PRRC2B_ENST00000372249.1_Silent_p.I56I|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Silent_p.I1265I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1959							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCAGCAGATCCCGATCTCCC	0.637																																																	0													39	44	42					9																	134362574		2049	4187	6236	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5877C>T	9.37:g.134362574C>T			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	pfam_BAT2_N	p.I1959	ENST00000357304.4	37	c.5877	CCDS48044.1	9																																																																																			PRRC2B	-	NULL		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		C			134362574	1	no_errors	ENST00000357304	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134362574	C	T	134362574	2	4	103	1	0	0	0	0	0	0	0	1	1321	845	30	1		1	BAT2L1	9	134362574	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1697403	134362574	6850857	132	15218										
TTF1	7270	genome.wustl.edu	37	chr9	135278098	135278098	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttcaccagggaggagtctctGaaaatttcgtgggaatgttt	12	6	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:135278098G>A	ENST00000334270.2	-	2	150	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	37	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGGAGTCTCTGAAAATTTCGT	0.363																																																	0													73	78	76					9																	135278098		2193	4298	6491	SO:0001819	synonymous_variant	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.111C>T	9.37:g.135278098G>A			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.F37	ENST00000334270.2	37	c.111	CCDS6948.1	9																																																																																			TTF1	-	NULL		0.363	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	G	NM_007344		135278098	-1	no_errors	ENST00000334270	ensembl	human	known	70_37	silent	SNP	0.001	A	A	135278098	G	A	135278098	2	1	103	1	0	0	0	0	0	0	0	1	16749	1281	45	1		1	TTF1	9	135278098	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	915524	135278098	5935333	133	15219										
C9orf139	401563	genome.wustl.edu	37	chr9	139929272	139929272	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctccctccctgggtggatttGaaggagcctcccccaccctc	9	18	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:139929272G>C	ENST00000314330.2	+	3	1853	c.339G>C	c.(337-339)ttG>ttC	p.L113F	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	113										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTGGATTTGAAGGAGCCTC	0.672																																																	0													48	52	51					9																	139929272		2200	4295	6495	SO:0001583	missense	401563				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.339G>C	9.37:g.139929272G>C	ENSP00000318119:p.Leu113Phe		A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	NULL	p.L113F	ENST00000314330.2	37	c.339	CCDS7023.1	9	.	.	.	.	.	.	.	.	.	.	g	9.723	1.160229	0.21454	.	.	ENSG00000180539	ENST00000314330	T	0.57436	0.4	2.65	-5.31	0.02730	.	.	.	.	.	T	0.24661	0.0598	N	0.08118	0	0.09310	N	1	P	0.43542	0.81	B	0.41202	0.35	T	0.19386	-1.0307	9	0.87932	D	0	.	0.5484	0.00658	0.4045:0.1317:0.1747:0.2891	.	113	Q6ZV77	CI139_HUMAN	F	113	ENSP00000318119:L113F	ENSP00000318119:L113F	L	+	3	2	C9orf139	139049093	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.428000	0.02439	-2.106000	0.00841	0.290000	0.19541	TTG	C9orf139	-	NULL		0.672	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	HGNC	protein_coding	OTTHUMT00000055213.2	G	NM_207511		139929272	1	no_errors	ENST00000314330	ensembl	human	known	70_37	missense	SNP	0.000	C	C	139929272	G	C	139929272	3	2	103	1	0	0	0	0	1	0	0	0	2464	1281	45	1	345	1	C9orf139	9	139929272	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4651174	139929272	1284159	134	15220										
C9orf139	401563	genome.wustl.edu	37	chr9	139929414	139929414	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcccagaaatgggtcagaacGaaagcctctcagaggaaaga	12	9	2	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:139929414G>C	ENST00000314330.2	+	3	1995	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632																																																	0													45	57	53					9																	139929414		2198	4295	6493	SO:0001583	missense	401563				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.481G>C	9.37:g.139929414G>C	ENSP00000318119:p.Glu161Gln		A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	NULL	p.E161Q	ENST00000314330.2	37	c.481	CCDS7023.1	9	.	.	.	.	.	.	.	.	.	.	g	12.74	2.027481	0.35797	.	.	ENSG00000180539	ENST00000314330	T	0.55234	0.53	2.64	0.667	0.17907	.	.	.	.	.	T	0.45236	0.1332	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.65233	0.933	T	0.30001	-0.9993	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	Q	161	ENSP00000318119:E161Q	ENSP00000318119:E161Q	E	+	1	0	C9orf139	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA	C9orf139	-	NULL		0.632	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	HGNC	protein_coding	OTTHUMT00000055213.2	G	NM_207511		139929414	1	no_errors	ENST00000314330	ensembl	human	known	70_37	missense	SNP	0.003	C	C	139929414	G	C	139929414	3	2	103	1	0	0	0	0	1	0	0	0	2464	1059	37	1	487	1	C9orf139	9	139929414	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	142	139929414	1284017	135	15221										
NELF	26012	genome.wustl.edu	37	chr9	140348844	140348844	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccgccgcacggggtcttactCtgggccttcaccctccggct	11	18	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:140348844C>G	ENST00000371475.3	-	7	1062	c.831G>C	c.(829-831)caG>caC	p.Q277H	NSMF_ENST00000371473.3_Splice_Site_p.Q277H|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000339554.3_Splice_Site_p.Q74H|NSMF_ENST00000371474.3_Splice_Site_p.Q252H|NSMF_ENST00000437259.1_Splice_Site_p.Q254H|NSMF_ENST00000392812.4_Splice_Site_p.Q254H|NSMF_ENST00000371468.1_Splice_Site_p.Q10H|NSMF_ENST00000541195.1_Splice_Site_p.Q74H|NSMF_ENST00000371472.2_Splice_Site_p.Q275H|NSMF_ENST00000265663.7_Splice_Site_p.Q275H	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	277					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										GGGTCTTACTCTGGGCCTTCA	0.677																																																	0													19	25	23					9																	140348844		1878	3578	5456	SO:0001630	splice_region_variant	26012				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.832+1G>C	9.37:g.140348844C>G			Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	NULL	p.Q277H	ENST00000371475.3	37	c.831	CCDS48069.1	9	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651302	0.67472	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472;ENST00000541195;ENST00000371468	T;T;T;T;T;T;T;T;T	0.54866	0.77;0.55;0.74;0.61;0.61;0.61;0.68;0.74;0.58	4.23	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.59436	1.845	0.48135	D	0.999596	P;P;P;P;P;P;P	0.49358	0.895;0.913;0.654;0.797;0.923;0.797;0.797	P;P;P;P;P;P;B	0.53722	0.632;0.733;0.632;0.549;0.544;0.526;0.424	T	0.59434	-0.7455	10	0.87932	D	0	-9.6194	6.7015	0.23227	0.0:0.7588:0.0:0.2412	.	254;74;58;252;277;277;275	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	H	74;277;275;254;254;252;277;275;74;10	ENSP00000342966:Q74H;ENSP00000360530:Q277H;ENSP00000265663:Q275H;ENSP00000412007:Q254H;ENSP00000376559:Q254H;ENSP00000360529:Q252H;ENSP00000360528:Q277H;ENSP00000360527:Q275H;ENSP00000444177:Q74H	ENSP00000265663:Q275H	Q	-	3	2	NELF	139468665	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.629000	0.37071	1.895000	0.54865	0.455000	0.32223	CAG	NELF	-	NULL		0.677	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELF	HGNC	protein_coding		C	NM_015537	Missense_Mutation	140348844	-1	no_errors	ENST00000371475	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140348844	C	G	140348844	5	3	103	1	0	0	0	0	0	0	1	0	10356	927	32	1	801	1	NELF	9	140348844	Splice_Site	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	419430	140348844	864587	136	15222										
CELF2	10659	genome.wustl.edu	37	chr10	11308601	11308601	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctacaagggcaatggcacaGaatgcaatcaaagccatgca	9	10	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:11308601G>A	ENST00000379261.4	+	6	650	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CELF2_ENST00000537122.1_Silent_p.Q75Q|CELF2_ENST00000450189.1_Silent_p.Q193Q|CELF2_ENST00000354440.2_Silent_p.Q162Q|CELF2_ENST00000417956.2_Silent_p.Q162Q|CELF2_ENST00000427450.1_Silent_p.Q162Q|CELF2_ENST00000416382.2_Silent_p.Q186Q|CELF2_ENST00000608830.1_Silent_p.Q162Q|CELF2_ENST00000315874.4_Silent_p.Q162Q|CELF2_ENST00000609692.1_Silent_p.Q162Q|CELF2_ENST00000542579.1_Silent_p.Q193Q|CELF2_ENST00000399850.3_Silent_p.Q162Q|CELF2_ENST00000354897.3_Silent_p.Q162Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448																																																	0													190	175	180					10																	11308601		1986	4172	6158	SO:0001819	synonymous_variant	10659			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.558G>A	10.37:g.11308601G>A			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.Q193	ENST00000379261.4	37	c.579	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.448	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		G			11308601	1	no_errors	ENST00000450189	ensembl	human	known	70_37	silent	SNP	1.000	A	A	11308601	G	A	11308601	2	1	103	1	0	0	0	0	0	0	0	1	3221	933	33	1		1	CELF2	10	11308601	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		11308601	124226146	137	15223										
PRPF18	8559	genome.wustl.edu	37	chr10	13652056	13652056	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tagggattgaggaatgatttGaaagcagccttggataagat	13	3	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:13652056G>C	ENST00000378572.3	+	5	541	c.381G>C	c.(379-381)ttG>ttC	p.L127F		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	127					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GGAATGATTTGAAAGCAGCCT	0.393																																																	0													149	150	150					10																	13652056		2203	4300	6503	SO:0001583	missense	8559			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.381G>C	10.37:g.13652056G>C	ENSP00000367835:p.Leu127Phe		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.L127F	ENST00000378572.3	37	c.381	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.411334	0.01145	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	5.8	1.74	0.24563	Splicing factor motif (1);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	N	0.25332	0.735	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.18999	-1.0319	9	0.02654	T	1	-16.455	4.6722	0.12694	0.1262:0.2228:0.536:0.1149	.	127	Q99633	PRP18_HUMAN	F	127;121;112;121	.	ENSP00000367824:L112F	L	+	3	2	PRPF18	13692062	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	1.931000	0.40134	0.325000	0.23359	-0.181000	0.13052	TTG	PRPF18	-	smart_SFM		0.393	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	G			13652056	1	no_errors	ENST00000378572	ensembl	human	known	70_37	missense	SNP	0.998	C	C	13652056	G	C	13652056	3	2	103	1	0	0	0	0	1	0	0	0	12590	1281	45	1	399	1	PRPF18	10	13652056	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2343455	13652056	121882691	138	15224										
COL13A1	1305	genome.wustl.edu	37	chr10	71712663	71712663	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gagggggaagaaaggctctaGagggcctaaaggggataagg	19	4	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:71712663G>C	ENST00000398978.3	+	38	2543	c.2051G>C	c.(2050-2052)aGa>aCa	p.R684T	COL13A1_ENST00000398964.3_Missense_Mutation_p.R655T|COL13A1_ENST00000522165.1_Missense_Mutation_p.R653T|COL13A1_ENST00000398968.3_Missense_Mutation_p.R665T|COL13A1_ENST00000517713.1_Missense_Mutation_p.R635T|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000356340.3_Missense_Mutation_p.R684T|COL13A1_ENST00000398971.3_Missense_Mutation_p.R669T|COL13A1_ENST00000398974.3_Missense_Mutation_p.R672T|COL13A1_ENST00000398969.3_Missense_Mutation_p.R612T|COL13A1_ENST00000398972.3_Missense_Mutation_p.R670T|COL13A1_ENST00000398973.3_Missense_Mutation_p.R658T|COL13A1_ENST00000354547.3_Missense_Mutation_p.R662T|COL13A1_ENST00000357811.3_Missense_Mutation_p.R650T|COL13A1_ENST00000398966.3_Missense_Mutation_p.R662T|COL13A1_ENST00000520267.1_Missense_Mutation_p.R612T	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AAAGGCTCTAGAGGGCCTAAA	0.433																																																	0													79	84	83					10																	71712663		1836	4093	5929	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.2051G>C	10.37:g.71712663G>C	ENSP00000381949:p.Arg684Thr			Missense_Mutation	SNP	pfam_Collagen	p.R684T	ENST00000398978.3	37	c.2051	CCDS44419.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.02|12.02|12.02	1.812114|1.812114|1.812114	0.32053|0.32053|0.32053	.|.|.	.|.|.	ENSG00000197467|ENSG00000197467|ENSG00000197467	ENST00000398975|ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165|ENST00000456019	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.96041|.	.|-2.88;-3.89;-2.88;-2.88;-2.88;-3.89;-2.88;-3.89;-3.17;-2.88;-2.88;-3.17;-3.89;-3.17;-3.17|.	5.35|5.35|5.35	4.45|4.45|4.45	0.53987|0.53987|0.53987	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.58032|0.58032|.	0.2094|0.2094|.	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.41038|0.41038|0.41038	D|D|D	0.985207|0.985207|0.985207	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.69078|.	.|0.991;0.997;0.996;0.996;0.995;0.997;0.997;0.997;0.997;0.997;0.996;0.996;0.992;0.996;0.996;0.997;0.996|.	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.99;0.99;0.989;0.994;0.994;0.989;0.994;0.994;0.99;0.99;0.974;0.99;0.99;0.994;0.99|.	T|T|.	0.55921|0.55921|.	-0.8064|-0.8064|.	5|10|.	.|0.31617|.	.|T|.	.|0.26|.	-17.2149|-17.2149|-17.2149	14.187|14.187|14.187	0.65612|0.65612|0.65612	0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0	.|.|.	.|612;684;669;670;658;662;665;670;672;669;650;635;658;653;662;655;684|.	.|B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.|.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	Q|T|Y	214|672;669;665;662;655;612;684;670;658;684;662;650;612;635;653|140	.|ENSP00000381946:R672T;ENSP00000381943:R669T;ENSP00000381940:R665T;ENSP00000381938:R662T;ENSP00000381936:R655T;ENSP00000381941:R612T;ENSP00000348695:R684T;ENSP00000381944:R670T;ENSP00000381945:R658T;ENSP00000381949:R684T;ENSP00000346553:R662T;ENSP00000350463:R650T;ENSP00000428057:R612T;ENSP00000430061:R635T;ENSP00000428342:R653T|.	.|ENSP00000346553:R662T|.	E|R|X	+|+|+	1|2|3	0|0|2	COL13A1|COL13A1|COL13A1	71382669|71382669|71382669	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	6.534000|6.534000|6.534000	0.73833|0.73833|0.73833	1.390000|1.390000|1.390000	0.46547|0.46547|0.46547	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GAG|AGA|TAG	COL13A1	-	pfam_Collagen		0.433	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	G	NM_005203		71712663	1	no_errors	ENST00000356340	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71712663	G	C	71712663	3	2	103	1	0	0	0	0	1	0	0	0	3675	942	33	1	2201	1	COL13A1	10	71712663	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	58060607	71712663	63822084	139	15225										
PPP3CB	5532	genome.wustl.edu	37	chr10	75204553	75204553	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctgtgggagtcaggcccttGagtgtcagcacactttcact	11	12	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:75204553G>C	ENST00000360663.5	-	12	1407	c.1296C>G	c.(1294-1296)ctC>ctG	p.L432L	PPP3CB_ENST00000394829.2_Silent_p.L433L|PPP3CB_ENST00000544628.1_Silent_p.L60L|PPP3CB_ENST00000545874.1_Silent_p.L347L|PPP3CB_ENST00000394828.2_Silent_p.L433L|PPP3CB_ENST00000394822.2_Silent_p.L450L|PPP3CB_ENST00000342558.3_Silent_p.L432L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	432					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TCAGGCCCTTGAGTGTCAGCA	0.453																																																	0													164	115	132					10																	75204553		2203	4300	6503	SO:0001819	synonymous_variant	5532			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1296C>G	10.37:g.75204553G>C			P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L433	ENST00000360663.5	37	c.1299	CCDS7328.1	10																																																																																			PPP3CB	-	NULL		0.453	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	G	NM_021132		75204553	-1	no_errors	ENST00000394829	ensembl	human	known	70_37	silent	SNP	1.000	C	C	75204553	G	C	75204553	2	2	103	1	0	0	0	0	0	0	0	1	12425	1277	45	1		1	PPP3CB	10	75204553	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3491890	75204553	60330194	140	15226										
NDST2	8509	genome.wustl.edu	37	chr10	75567903	75567903	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaggaccacgggttcagttcGagctgtctctggaggcctgg	15	10	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:75567903G>A	ENST00000309979.6	-	3	800	c.244C>T	c.(244-246)Cga>Tga	p.R82*	RP11-574K11.31_ENST00000603027.1_Nonsense_Mutation_p.R82*|NDST2_ENST00000299641.4_5'UTR|NDST2_ENST00000398701.2_5'Flank			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	82	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.R82*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGTTCAGTTCGAGCTGTCTCT	0.617																																																	1	Substitution - Nonsense(1)	skin(1)											47	41	43					10																	75567903		2203	4300	6503	SO:0001587	stop_gained	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.244C>T	10.37:g.75567903G>A	ENSP00000310657:p.Arg82*		Q2TB32|Q59H89	Nonsense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R82*	ENST00000309979.6	37	c.244	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.407885	0.98265	.	.	ENSG00000166507	ENST00000309979	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000310657:R82X	R	-	1	2	NDST2	75237909	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.976000	0.76135	2.686000	0.91538	0.561000	0.74099	CGA	NDST2	-	pfam_Heparan_SO4_deacetylase		0.617	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	G	NM_003635		75567903	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	75567903	G	A	75567903	4	1	103	1	0	0	0	0	0	1	0	0	10280	1066	37	1	2459	1	NDST2	10	75567903	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	363350	75567903	59966844	141	15227										
FRA10AC1	118924	genome.wustl.edu	37	chr10	95451844	95451844	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tagtatttcttagcaagtctCttctccctagacccatgaaa	5	11	3	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:95451844C>A	ENST00000359204.4	-	7	584	c.387G>T	c.(385-387)aaG>aaT	p.K129N	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K129N|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K129N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K129N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	129	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TAGCAAGTCTCTTCTCCCTAG	0.284																																																	0													36	40	38					10																	95451844		2189	4273	6462	SO:0001583	missense	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.387G>T	10.37:g.95451844C>A	ENSP00000360488:p.Lys129Asn		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.K129N	ENST00000359204.4	37	c.387	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372821	0.61624	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25085	1.82;1.85;1.82;1.82	5.49	4.59	0.56863	.	0.043572	0.85682	N	0.000000	T	0.42268	0.1195	L	0.52905	1.665	0.49915	D	0.999832	D;D	0.71674	0.994;0.998	P;D	0.68765	0.899;0.96	T	0.18085	-1.0348	10	0.41790	T	0.15	-12.2403	11.2117	0.48802	0.0:0.8525:0.0:0.1475	.	129;129	Q70Z53-2;Q70Z53	.;F10C1_HUMAN	N	129	ENSP00000360488:K129N;ENSP00000438405:K129N;ENSP00000360484:K129N;ENSP00000377660:K129N	ENSP00000360488:K129N	K	-	3	2	FRA10AC1	95441834	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	1.071000	0.30666	1.304000	0.44892	0.585000	0.79938	AAG	FRA10AC1	-	pfam_Folate-sensitive_fs_Fra10Ac1		0.284	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	C	NM_145246		95451844	-1	no_errors	ENST00000359204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95451844	C	A	95451844	3	1	103	1	0	0	0	0	1	0	0	0	6059	912	32	3	592	3	FRA10AC1	10	95451844	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	19883941	95451844	40082903	142	15228										
SEC31B	25956	genome.wustl.edu	37	chr10	102247537	102247537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aacctcatggagcccagccaCgacatgaggtgagagctgtg	13	11	1	2	rs373491242	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:102247537C>T	ENST00000370345.3	-	26	3473	c.3376G>A	c.(3376-3378)Gtg>Atg	p.V1126M		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1126					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGCCCAGCCACGACATGAGGT	0.577													C|||	2	0.000399361	0	0	5008	,	,		20886	0		0	False		,,,				2504	0.002																0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	39	38	38		3376	0.6	0.9	10		38	0,8600		0,0,4300	no	missense	SEC31B	NM_015490.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1126/1180	102247537	1,13005	2203	4300	6503	SO:0001583	missense	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3376G>A	10.37:g.102247537C>T	ENSP00000359370:p.Val1126Met		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1126M	ENST00000370345.3	37	c.3376	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295502	0.40594	2.27E-4	0.0	ENSG00000075826	ENST00000370345	T	0.53206	0.63	4.8	0.554	0.17241	.	0.301931	0.32314	N	0.006266	T	0.29355	0.0731	N	0.19112	0.55	0.80722	D	1	P;P	0.49961	0.93;0.886	B;B	0.43701	0.428;0.178	T	0.06127	-1.0844	10	0.72032	D	0.01	-0.4397	5.4004	0.16293	0.076:0.2713:0.5227:0.1301	.	1125;1126	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	M	1126	ENSP00000359370:V1126M	ENSP00000359370:V1126M	V	-	1	0	SEC31B	102237527	1.000000	0.71417	0.944000	0.38274	0.898000	0.52572	1.065000	0.30592	0.196000	0.20367	-0.311000	0.09066	GTG	SEC31B	-	NULL		0.577	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	C	NM_015490		102247537	-1	no_errors	ENST00000370345	ensembl	human	known	70_37	missense	SNP	0.999	T	T	102247537	C	T	102247537	3	4	103	1	0	0	0	0	1	0	0	0	14029	536	19	2	167	2	SEC31B	10	102247537	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6795693	102247537	33287210	143	15229										
FGF8	2253	genome.wustl.edu	37	chr10	103534606	103534606	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gatgaggcggcggctgagctGatccgtcaccaggctctgct	15	12	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:103534606G>A	ENST00000344255.3	-	4	186	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	FGF8_ENST00000346714.3_Nonsense_Mutation_p.Q34*|FGF8_ENST00000320185.2_Nonsense_Mutation_p.Q74*|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Nonsense_Mutation_p.Q45*			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	63					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGGCTGAGCTGATCCGTCACC	0.522																																																	0													81	81	81					10																	103534606		2203	4300	6503	SO:0001587	stop_gained	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.187C>T	10.37:g.103534606G>A	ENSP00000340039:p.Gln63*		A1A514|Q14915|Q15766	Nonsense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.Q74*	ENST00000344255.3	37	c.220	CCDS7517.1	10	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348486	0.82132	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	.	.	.	4.52	4.52	0.55395	.	0.574514	0.18167	N	0.149574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-14.5663	17.494	0.87712	0.0:0.0:1.0:0.0	.	.	.	.	X	63;74;34;45	.	ENSP00000321797:Q74X	Q	-	1	0	FGF8	103524596	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.243000	0.78219	2.371000	0.80710	0.486000	0.48141	CAG	FGF8	-	superfamily_Cytokine_IL1-like		0.522	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	G	NM_006119, NM_033165		103534606	-1	no_errors	ENST00000320185	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	103534606	G	A	103534606	4	1	103	1	0	0	0	0	0	1	0	0	5876	1299	45	1	526	1	FGF8	10	103534606	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1287069	103534606	32000141	144	15230										
ACTR1A	10121	genome.wustl.edu	37	chr10	104243919	104243919	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccagggggcagcacttacttCttttatggccttgacaatct	9	11	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:104243919C>G	ENST00000369905.4	-	6	718	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	ACTR1A_ENST00000446605.2_Missense_Mutation_p.E172Q|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E219Q|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'Flank|ACTR1A_ENST00000545684.1_Missense_Mutation_p.E145Q	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	219					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCACTTACTTCTTTTATGGCC	0.597																																																	0													78	74	75					10																	104243919		2203	4300	6503	SO:0001583	missense	10121			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.655G>C	10.37:g.104243919C>G	ENSP00000358921:p.Glu219Gln		B2R6B0|P42024	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E219Q	ENST00000369905.4	37	c.655	CCDS7536.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911194	0.92178	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.96200	-3.94;-3.94;-3.94	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98118	0.9379	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99010	1.0814	10	0.87932	D	0	.	18.9645	0.92691	0.0:1.0:0.0:0.0	.	219	P61163	ACTZ_HUMAN	Q	219;145;172	ENSP00000358921:E219Q;ENSP00000438890:E145Q;ENSP00000406028:E172Q	ENSP00000358921:E219Q	E	-	1	0	ACTR1A	104233909	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.666000	0.83877	2.500000	0.84329	0.561000	0.74099	GAA	ACTR1A	-	pfam_Actin-like,smart_Actin-like		0.597	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1A	HGNC	protein_coding	OTTHUMT00000050053.1	C			104243919	-1	no_errors	ENST00000369905	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104243919	C	G	104243919	3	3	103	1	0	0	0	0	1	0	0	0	209	922	32	1	499	1	ACTR1A	10	104243919	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	709313	104243919	31290828	145	15231										
SHOC2	8036	genome.wustl.edu	37	chr10	112724639	112724639	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgaagaagctgcggatgcttGatttacggcataataaactg	11	6	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:112724639G>A	ENST00000369452.4	+	2	868	c.523G>A	c.(523-525)Gat>Aat	p.D175N	SHOC2_ENST00000265277.5_Missense_Mutation_p.D175N|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	175					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCGGATGCTTGATTTACGGCA	0.408																																																	0													90	96	94					10																	112724639		2201	4299	6500	SO:0001583	missense	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.523G>A	10.37:g.112724639G>A	ENSP00000358464:p.Asp175Asn		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D175N	ENST00000369452.4	37	c.523	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166429	0.57476	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.57907	0.37;0.37;2.92	5.79	5.79	0.91817	.	0.045577	0.85682	D	0.000000	T	0.65344	0.2682	L	0.39397	1.21	0.80722	D	1	B;D	0.56287	0.447;0.975	B;D	0.64237	0.179;0.923	T	0.62530	-0.6835	10	0.46703	T	0.11	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	175;175	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	N	175;175;11	ENSP00000265277:D175N;ENSP00000358464:D175N;ENSP00000408275:D11N	ENSP00000265277:D175N	D	+	1	0	SHOC2	112714629	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.869000	0.99810	2.734000	0.93682	0.655000	0.94253	GAT	SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.408	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	G	NM_007373		112724639	1	no_errors	ENST00000369452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112724639	G	A	112724639	3	1	103	1	0	0	0	0	1	0	0	0	14317	1290	45	1	525	1	SHOC2	10	112724639	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	8480720	112724639	22810108	146	15232										
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118357673	118357673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cgtggatctagatggcatctGggcgggtaaagtcatggtgg	17	6	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:118357673G>C	ENST00000528052.1	+	8	880	c.809G>C	c.(808-810)tGg>tCg	p.W270S	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W270S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W270S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	270					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.W270L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGGCATCTGGGCGGGTAAA	0.502																																																	1	Substitution - Missense(1)	lung(1)											64	57	59					10																	118357673		2203	4300	6503	SO:0001583	missense	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.809G>C	10.37:g.118357673G>C	ENSP00000433933:p.Trp270Ser		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.W270S	ENST00000528052.1	37	c.809	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	16.83	3.229963	0.58777	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.90732	-2.72;-2.72;-2.72	5.19	5.19	0.71726	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94149	0.8123	M	0.79343	2.45	0.80722	D	1	P	0.47106	0.89	P	0.60345	0.873	D	0.93725	0.7036	10	0.48119	T	0.1	-3.3081	13.4971	0.61432	0.0:0.0:0.843:0.157	.	270	P54315	LIPR1_HUMAN	S	270	ENSP00000351695:W270S;ENSP00000433933:W270S;ENSP00000434159:W270S	ENSP00000351695:W270S	W	+	2	0	PNLIPRP1	118347663	1.000000	0.71417	0.994000	0.49952	0.824000	0.46624	6.515000	0.73751	2.568000	0.86640	0.650000	0.86243	TGG	PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.502	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	G	NM_006229		118357673	1	no_errors	ENST00000358834	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118357673	G	C	118357673	3	2	103	1	0	0	0	0	1	0	0	0	12174	1357	47	4	835	4	PNLIPRP1	10	118357673	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	5633034	118357673	17177074	147	15233										
GRK5	2869	genome.wustl.edu	37	chr10	121196337	121196337	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcttagaagacctccaccgtGagaacaccgtctaccggtga	10	13	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:121196337G>C	ENST00000392870.2	+	9	1242	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	GRK5_ENST00000369108.3_Missense_Mutation_p.E200Q	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCTCCACCGTGAGAACACCGT	0.602																																																	0													71	60	64					10																	121196337		2203	4300	6503	SO:0001583	missense	2869			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.913G>C	10.37:g.121196337G>C	ENSP00000376609:p.Glu305Gln		D3DRD0|Q5T059	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E305Q	ENST00000392870.2	37	c.913	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870235	0.72065	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.65178	-0.14;-0.14	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.56156	0.1966	N	0.02111	-0.68	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79784	0.99;0.993	T	0.62661	-0.6807	10	0.15499	T	0.54	-3.8947	19.2399	0.93877	0.0:0.0:1.0:0.0	.	305;305	B2R7K0;P34947	.;GRK5_HUMAN	Q	305;200	ENSP00000376609:E305Q;ENSP00000358104:E200Q	ENSP00000358104:E200Q	E	+	1	0	GRK5	121186327	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	9.697000	0.98697	2.539000	0.85634	0.563000	0.77884	GAG	GRK5	-	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		0.602	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	G	NM_005308		121196337	1	no_errors	ENST00000392870	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121196337	G	C	121196337	3	2	103	1	0	0	0	0	1	0	0	0	6812	1291	45	1	947	1	GRK5	10	121196337	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2838664	121196337	14338410	148	15234										
C10orf88	80007	genome.wustl.edu	37	chr10	124692001	124692001	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aatgtcttagaggtatcccaGtgggcggggagttaggattt	15	5	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:124692001G>C	ENST00000481909.1	-	6	1504	c.1280C>G	c.(1279-1281)aCt>aGt	p.T427S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	427										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGGTATCCCAGTGGGCGGGGA	0.383																																																	0													106	102	104					10																	124692001		2203	4300	6503	SO:0001583	missense	80007			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1280C>G	10.37:g.124692001G>C	ENSP00000419126:p.Thr427Ser		Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.T427S	ENST00000481909.1	37	c.1280	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058917	0.01950	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	2.97	0.34412	.	0.448187	0.17984	N	0.155435	T	0.11452	0.0279	N	0.02391	-0.57	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29243	-1.0018	9	0.10636	T	0.68	.	3.8702	0.09033	0.086:0.2775:0.4735:0.1629	.	427	Q9H8K7	CJ088_HUMAN	S	427	.	ENSP00000419126:T427S	T	-	2	0	C10orf88	124681991	0.005000	0.15991	0.000000	0.03702	0.583000	0.36354	1.540000	0.36115	0.452000	0.26830	-0.150000	0.13652	ACT	C10orf88	-	NULL		0.383	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	G	NM_024942		124692001	-1	no_errors	ENST00000481909	ensembl	human	known	70_37	missense	SNP	0.000	C	C	124692001	G	C	124692001	3	2	103	1	0	0	0	0	1	0	0	0	1626	1029	36	4	61	4	C10orf88	10	124692001	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3495664	124692001	10842746	149	15235										
TH	7054	genome.wustl.edu	37	chr11	2185559	2185559	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgggggctgtccagcacgtcGatggccagcgtgtacgggtc	17	11	0	0	rs118175546	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:2185559G>C	ENST00000381178.1	-	14	1509	c.1491C>G	c.(1489-1491)atC>atG	p.I497M	TH_ENST00000352909.3_Missense_Mutation_p.I466M|TH_ENST00000333684.5_Missense_Mutation_p.I376M|INS_ENST00000381330.4_5'Flank|TH_ENST00000381175.1_Missense_Mutation_p.I493M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	497					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAGCACGTCGATGGCCAGCG	0.667																																																	0													72	62	65					11																	2185559		2201	4298	6499	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1491C>G	11.37:g.2185559G>C	ENSP00000370571:p.Ile497Met		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.I497M	ENST00000381178.1	37	c.1491	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460771	0.26248	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47	3.76	-4.76	0.03229	Aromatic amino acid hydroxylase, C-terminal (4);	0.211551	0.39083	N	0.001475	D	0.99336	0.9767	M	0.76574	2.34	0.26995	N	0.965044	P;D;D;P;P;P	0.56035	0.939;0.974;0.969;0.606;0.774;0.732	D;D;P;P;P;P	0.71656	0.974;0.93;0.906;0.487;0.785;0.679	D	0.99950	1.1537	10	0.72032	D	0.01	-5.9236	7.1682	0.25704	0.2476:0.5016:0.2508:0.0	.	470;376;372;466;497;493	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	M	497;493;466;376	ENSP00000370571:I497M;ENSP00000370567:I493M;ENSP00000325951:I466M;ENSP00000328814:I376M	ENSP00000328814:I376M	I	-	3	3	TH	2142135	0.009000	0.17119	0.239000	0.24122	0.049000	0.14656	-1.052000	0.03503	-1.163000	0.02793	-0.340000	0.08031	ATC	TH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase		0.667	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	G	NM_000360		2185559	-1	no_errors	ENST00000381178	ensembl	human	known	70_37	missense	SNP	0.819	C	C	2185559	G	C	2185559	3	2	103	1	0	0	0	0	1	0	0	0	15868	1048	37	1	99	1	TH	11	2185559	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		2185559	132820957	150	15236										
C11orf42	160298	genome.wustl.edu	37	chr11	6231275	6231275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcctggagcaggcaggatctGagggtgccttcgcccactgc	14	13	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:6231275G>C	ENST00000316375.2	+	2	318	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	90										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGGATCTGAGGGTGCCTT	0.622																																																	0													56	57	56					11																	6231275		2201	4296	6497	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.268G>C	11.37:g.6231275G>C	ENSP00000321021:p.Glu90Gln			Missense_Mutation	SNP	NULL	p.E90Q	ENST00000316375.2	37	c.268	CCDS7759.1	11	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833847	0.32421	.	.	ENSG00000180878	ENST00000316375	T	0.51574	0.7	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000025	T	0.53818	0.1820	N	0.24115	0.695	0.33366	D	0.573015	D	0.67145	0.996	D	0.78314	0.991	T	0.62586	-0.6823	10	0.46703	T	0.11	-17.743	14.1299	0.65247	0.0:0.0:1.0:0.0	.	90	Q8N5U0	CK042_HUMAN	Q	90	ENSP00000321021:E90Q	ENSP00000321021:E90Q	E	+	1	0	C11orf42	6187851	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	3.016000	0.49607	2.718000	0.92993	0.484000	0.47621	GAG	C11orf42	-	NULL		0.622	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf42	HGNC	protein_coding	OTTHUMT00000257227.2	G	NM_173525		6231275	1	no_errors	ENST00000316375	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6231275	G	C	6231275	3	2	103	1	0	0	0	0	1	0	0	0	1645	1291	45	1	274	1	C11orf42	11	6231275	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4045716	6231275	128775241	151	15237										
ST5	6764	genome.wustl.edu	37	chr11	8718078	8718078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggatgcttttggaggccacaGatttgcggaaggcctctcgc	14	10	1	1	rs550462448	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:8718078G>A	ENST00000534127.1	-	21	3573	c.3188C>T	c.(3187-3189)tCt>tTt	p.S1063F	RP11-152H18.3_ENST00000529883.1_RNA|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.S535F|ST5_ENST00000534278.1_Missense_Mutation_p.S254F|ST5_ENST00000526757.1_Missense_Mutation_p.S643F|ST5_ENST00000530438.1_Missense_Mutation_p.S643F|ST5_ENST00000313726.6_Missense_Mutation_p.S1063F|ST5_ENST00000526099.1_Missense_Mutation_p.S576F|ST5_ENST00000357665.1_Missense_Mutation_p.S1063F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1063	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGAGGCCACAGATTTGCGGAA	0.517																																																	0													153	165	161					11																	8718078		2201	4296	6497	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3188C>T	11.37:g.8718078G>A	ENSP00000433528:p.Ser1063Phe		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S1063F	ENST00000534127.1	37	c.3188	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775468	0.90108	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.87	4.95	0.65309	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.995;0.997;0.999	D;D;D	0.83275	0.974;0.976;0.996	T	0.67906	-0.5549	10	0.87932	D	0	-12.4058	15.4048	0.74868	0.0676:0.0:0.9324:0.0	.	576;643;1063	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	F	643;1063;1063;535;1063;576;254;643	ENSP00000435097:S643F;ENSP00000433528:S1063F;ENSP00000319678:S1063F;ENSP00000432887:S535F;ENSP00000350294:S1063F;ENSP00000436808:S576F;ENSP00000433349:S254F;ENSP00000436802:S643F	ENSP00000319678:S1063F	S	-	2	0	ST5	8674654	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.609000	0.82925	2.791000	0.96007	0.655000	0.94253	TCT	ST5	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.517	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	G	NM_005418		8718078	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8718078	G	A	8718078	3	1	103	1	0	0	0	0	1	0	0	0	15250	942	33	1	237	1	ST5	11	8718078	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2486803	8718078	126288438	152	15238										
UEVLD	55293	genome.wustl.edu	37	chr11	18558012	18558012	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcttcttggccactccatgtGagcactaaaattagatgaag	8	9	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:18558012G>C	ENST00000396197.3	-	10	1093	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_Silent_p.L333L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000543987.1_Silent_p.L355L|UEVLD_ENST00000535484.1_Silent_p.L317L|UEVLD_ENST00000320750.6_Silent_p.L333L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CACTCCATGTGAGCACTAAAA	0.388																																																	0													146	136	139					11																	18558012		2199	4293	6492	SO:0001819	synonymous_variant	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1065C>G	11.37:g.18558012G>C				Silent	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.L355	ENST00000396197.3	37	c.1065	CCDS41624.1	11																																																																																			UEVLD	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH		0.388	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395923.2	G	NM_018314		18558012	-1	no_errors	ENST00000396197	ensembl	human	known	70_37	silent	SNP	0.053	C	C	18558012	G	C	18558012	2	2	103	1	0	0	0	0	0	0	0	1	16964	1277	45	1		1	UEVLD	11	18558012	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	9839934	18558012	116448504	153	15239										
NAV2	89797	genome.wustl.edu	37	chr11	20070498	20070498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagccccagctcagcccactCggccccttccaacagcctca	6	22	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:20070498C>T	ENST00000396087.3	+	16	4295	c.4196C>T	c.(4195-4197)tCg>tTg	p.S1399L	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.S1312L|NAV2_ENST00000311043.8_Missense_Mutation_p.S462L|NAV2_ENST00000349880.4_Missense_Mutation_p.S1376L|NAV2_ENST00000533917.1_Missense_Mutation_p.S462L|NAV2_ENST00000527559.2_Missense_Mutation_p.S1328L|NAV2_ENST00000396085.1_Missense_Mutation_p.S1376L|NAV2_ENST00000540292.1_Missense_Mutation_p.S1330L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1399	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCAGCCCACTCGGCCCCTTCC	0.632																																																	0													85	77	80					11																	20070498		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4196C>T	11.37:g.20070498C>T	ENSP00000379396:p.Ser1399Leu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1399L	ENST00000396087.3	37	c.4196	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.210681	0.95069	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.34667	1.35;1.45;1.45;1.5;1.38;1.38;2.99;1.68;2.99	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000015	T	0.60483	0.2272	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.991	D;D;D;D;D;P	0.91635	0.987;0.996;0.99;0.99;0.999;0.452	T	0.52830	-0.8523	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1376;1399;462;462;1376;1312	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	L	1312;1376;1376;1399;1328;1330;462;462;462;462	ENSP00000353871:S1312L;ENSP00000379394:S1376L;ENSP00000309577:S1376L;ENSP00000379396:S1399L;ENSP00000435395:S1328L;ENSP00000443489:S1330L;ENSP00000437316:S462L;ENSP00000437136:S462L;ENSP00000312169:S462L	.	S	+	2	0	NAV2	20027074	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.986000	0.76200	2.941000	0.99782	0.655000	0.94253	TCG	NAV2	-	NULL		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20070498	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20070498	C	T	20070498	3	4	103	1	0	0	0	0	1	0	0	0	10207	893	31	1	4294	1	NAV2	11	20070498	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1512486	20070498	114936018	154	15240										
NAV2	89797	genome.wustl.edu	37	chr11	20070575	20070575	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcaaggatggcctgggctttCagtctgtcagcagcctccac	12	13	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:20070575C>T	ENST00000396087.3	+	16	4372	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Nonsense_Mutation_p.Q1338*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.Q488*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.Q1402*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.Q488*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.Q1354*|NAV2_ENST00000396085.1_Nonsense_Mutation_p.Q1402*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.Q1356*	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1425	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTGGGCTTTCAGTCTGTCAG	0.632																																																	0													112	104	107					11																	20070575		2203	4300	6503	SO:0001587	stop_gained	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4273C>T	11.37:g.20070575C>T	ENSP00000379396:p.Gln1425*		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Nonsense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q1425*	ENST00000396087.3	37	c.4273	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.753463	0.99599	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	1338;1402;1402;1425;1354;1356;488;488;488;488	.	.	Q	+	1	0	NAV2	20027151	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	5.455000	0.66658	2.941000	0.99782	0.655000	0.94253	CAG	NAV2	-	NULL		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20070575	1	no_errors	ENST00000396087	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	20070575	C	T	20070575	4	4	103	1	0	0	0	0	0	1	0	0	10207	827	29	1	4371	1	NAV2	11	20070575	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	77	20070575	114935941	155	15241										
AMBRA1	55626	genome.wustl.edu	37	chr11	46529873	46529873	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggcgaatactgtctctccgtGagagatactggatcatcctc	10	11	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:46529873G>C	ENST00000458649.2	-	9	2625	c.2207C>G	c.(2206-2208)tCa>tGa	p.S736*	AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.S617*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.S646*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.S707*|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.S707*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	736					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCTCTCCGTGAGAGATACTG	0.507																																																	0													90	82	85					11																	46529873		2201	4299	6500	SO:0001587	stop_gained	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2207C>G	11.37:g.46529873G>C	ENSP00000415327:p.Ser736*		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S736*	ENST00000458649.2	37	c.2207		11	.	.	.	.	.	.	.	.	.	.	G	43	9.864375	0.99283	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000426438;ENST00000458649;ENST00000528950	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	646;617;707;736;707	.	ENSP00000318313:S646X	S	-	2	0	AMBRA1	46486449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.941000	0.99782	0.655000	0.94253	TCA	AMBRA1	-	NULL		0.507	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	G	NM_017749		46529873	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	46529873	G	C	46529873	4	2	103	1	0	0	0	0	0	1	0	0	565	1294	45	1	1729	1	AMBRA1	11	46529873	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	26459298	46529873	88476643	156	15242										
ARHGAP1	392	genome.wustl.edu	37	chr11	46703639	46703639	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	taggcatcacggagccagctGagggagggcttgttgtcgct	16	9	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:46703639G>T	ENST00000311956.4	-	5	508	c.411C>A	c.(409-411)ctC>ctA	p.L137L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	137	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGAGCCAGCTGAGGGAGGGCT	0.612																																																	0													201	150	167					11																	46703639		2201	4299	6500	SO:0001819	synonymous_variant	392			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.411C>A	11.37:g.46703639G>T			D3DQQ6	Silent	SNP	pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.L137	ENST00000311956.4	37	c.411	CCDS7922.1	11																																																																																			ARHGAP1	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.612	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP1	HGNC	protein_coding	OTTHUMT00000390472.1	G	NM_004308		46703639	-1	no_errors	ENST00000311956	ensembl	human	known	70_37	silent	SNP	0.995	T	T	46703639	G	T	46703639	2	4	103	1	0	0	0	0	0	0	0	1	861	1277	45	3		3	ARHGAP1	11	46703639	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	173766	46703639	88302877	157	15243										
LRP4	4038	genome.wustl.edu	37	chr11	46896353	46896353	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttcagtgttgctcatacctGataacatccaggaacacatc	6	11	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:46896353G>C	ENST00000378623.1	-	28	4469	c.4227C>G	c.(4225-4227)atC>atG	p.I1409M	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1409					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTCATACCTGATAACATCCA	0.473																																																	0													104	89	94					11																	46896353		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4227C>G	11.37:g.46896353G>C	ENSP00000367888:p.Ile1409Met		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I1409M	ENST00000378623.1	37	c.4227	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020310	0.54576	.	.	ENSG00000134569	ENST00000378623	D	0.94046	-3.34	5.67	3.79	0.43588	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.93420	3.415	0.48288	D	0.999626	D	0.89917	1.0	D	0.87578	0.998	D	0.97255	0.9900	10	0.87932	D	0	.	10.6169	0.45456	0.2062:0.0:0.7938:0.0	.	1409	O75096	LRP4_HUMAN	M	1409	ENSP00000367888:I1409M	ENSP00000367888:I1409M	I	-	3	3	LRP4	46852929	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.248000	0.43160	1.404000	0.46819	0.561000	0.74099	ATC	LRP4	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.473	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	G	NM_002334		46896353	-1	no_errors	ENST00000378623	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46896353	G	C	46896353	3	2	103	1	0	0	0	0	1	0	0	0	8982	1280	45	1	1534	1	LRP4	11	46896353	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	192714	46896353	88110163	158	15244										
NR1H3	10062	genome.wustl.edu	37	chr11	47283259	47283259	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaggaccagattgccctgctGaagacctctgcgatcgaggt	13	11	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:47283259G>A	ENST00000467728.1	+	5	2108	c.870G>A	c.(868-870)ctG>ctA	p.L290L	NR1H3_ENST00000481889.2_Silent_p.L245L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Silent_p.L245L|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Silent_p.L290L|NR1H3_ENST00000405576.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	290	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L290L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTGCCCTGCTGAAGACCTCTG	0.582																																																	1	Substitution - coding silent(1)	lung(1)											56	54	55					11																	47283259		2201	4298	6499	SO:0001819	synonymous_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.870G>A	11.37:g.47283259G>A			A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt	p.L290	ENST00000467728.1	37	c.870	CCDS7929.1	11																																																																																			NR1H3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	G			47283259	1	no_errors	ENST00000441012	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47283259	G	A	47283259	2	1	103	1	0	0	0	0	0	0	0	1	10642	1277	45	1		1	NR1H3	11	47283259	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	386906	47283259	87723257	159	15245										
OR5L1	219437	genome.wustl.edu	37	chr11	55579854	55579854	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaagaagctctcagaaaagtGatgggctccaaaattcactc	8	9	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:55579854G>C	ENST00000333973.2	+	1	1001	c.912G>C	c.(910-912)gtG>gtC	p.V304V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V304V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCAGAAAAGTGATGGGCTCCA	0.468																																																	1	Substitution - coding silent(1)	lung(1)											33	35	35					11																	55579854		2200	4296	6496	SO:0001819	synonymous_variant	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.912G>C	11.37:g.55579854G>C			B2RNK6|Q6IFD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V304	ENST00000333973.2	37	c.912	CCDS31509.1	11																																																																																			OR5L1	-	NULL		0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	G	NM_001004738		55579854	1	no_errors	ENST00000333973	ensembl	human	known	70_37	silent	SNP	0.000	C	C	55579854	G	C	55579854	2	2	103	1	0	0	0	0	0	0	0	1	11194	1277	45	1		1	OR5L1	11	55579854	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	8296595	55579854	79426662	160	15246										
DNAJC4	3338	genome.wustl.edu	37	chr11	64001629	64001629	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gagccaacccaaggccccgaGatcgtgccccggggcgccgg	15	17	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:64001629G>T	ENST00000321685.3	+	7	1164	c.699G>T	c.(697-699)gaG>gaT	p.E233D	RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000309422.2_5'Flank|DNAJC4_ENST00000321460.5_3'UTR|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000355040.4_3'UTR	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	233					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						AAGGCCCCGAGATCGTGCCCC	0.701																																																	0													8	13	11					11																	64001629		1872	4079	5951	SO:0001583	missense	3338			AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.699G>T	11.37:g.64001629G>T	ENSP00000396896:p.Glu233Asp		O14716	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E233D	ENST00000321685.3	37	c.699	CCDS41666.1	11	.	.	.	.	.	.	.	.	.	.	g	10.63	1.405557	0.25378	.	.	ENSG00000110011	ENST00000321685	T	0.22945	1.93	5.0	-0.957	0.10350	.	1.318270	0.04873	N	0.446299	T	0.14657	0.0354	N	0.22421	0.69	0.09310	N	0.999993	B	0.25904	0.137	B	0.20767	0.031	T	0.32079	-0.9920	10	0.62326	D	0.03	-1.9103	0.6608	0.00842	0.3255:0.1656:0.3391:0.1698	.	233	Q9NNZ3	DNJC4_HUMAN	D	233	ENSP00000396896:E233D	ENSP00000396896:E233D	E	+	3	2	DNAJC4	63758205	0.000000	0.05858	0.058000	0.19502	0.021000	0.10359	0.442000	0.21628	0.145000	0.18977	0.639000	0.83563	GAG	DNAJC4	-	NULL		0.701	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC4	HGNC	protein_coding	OTTHUMT00000396305.1	G			64001629	1	no_errors	ENST00000321685	ensembl	human	known	70_37	missense	SNP	0.002	T	T	64001629	G	T	64001629	3	4	103	1	0	0	0	0	1	0	0	0	4659	933	33	3	721	3	DNAJC4	11	64001629	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	8421775	64001629	71004887	161	15247										
EHD1	10938	genome.wustl.edu	37	chr11	64627690	64627690	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atcttgtcctcatggttcttCagagccttgatcacttccga	7	12	5	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:64627690C>T	ENST00000320631.3	-	3	875	c.621G>A	c.(619-621)ctG>ctA	p.L207L	EHD1_ENST00000359393.2_Silent_p.L207L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	207	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CATGGTTCTTCAGAGCCTTGA	0.592																																																	0													90	82	84					11																	64627690		2201	4297	6498	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.621G>A	11.37:g.64627690C>T			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.L207	ENST00000320631.3	37	c.621	CCDS8084.1	11																																																																																			EHD1	-	pfam_Dynamin_GTPase		0.592	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	C	NM_006795		64627690	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64627690	C	T	64627690	2	4	103	1	0	0	0	0	0	0	0	1	4987	813	29	1		1	EHD1	11	64627690	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	626061	64627690	70378826	162	15248										
NPAS4	266743	genome.wustl.edu	37	chr11	66190194	66190194	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tccaagtccctcaggcgccaGagtgcaggcaacaaactcgt	10	14	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:66190194G>C	ENST00000311034.2	+	4	656	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	160					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCAGGCGCCAGAGTGCAGGCA	0.547																																																	0													110	106	107					11																	66190194		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.480G>C	11.37:g.66190194G>C	ENSP00000311196:p.Gln160His		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.Q160H	ENST00000311034.2	37	c.480	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003554	0.74932	.	.	ENSG00000174576	ENST00000311034	T	0.51071	0.72	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000045	T	0.69024	0.3065	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72701	-0.4214	10	0.72032	D	0.01	-10.1682	10.7862	0.46407	0.0855:0.0:0.9145:0.0	.	160	Q8IUM7	NPAS4_HUMAN	H	160	ENSP00000311196:Q160H	ENSP00000311196:Q160H	Q	+	3	2	NPAS4	65946770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.666000	0.68059	2.702000	0.92279	0.655000	0.94253	CAG	NPAS4	-	NULL		0.547	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66190194	1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66190194	G	C	66190194	3	2	103	1	0	0	0	0	1	0	0	0	10589	933	33	1	494	1	NPAS4	11	66190194	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1562504	66190194	68816322	163	15249										
FCHSD2	9873	genome.wustl.edu	37	chr11	72551993	72551993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaatcctggtgactcagcatGaaggcttttttctaagggag	12	7	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:72551993G>A	ENST00000409418.4	-	19	2451	c.2068C>T	c.(2068-2070)Cat>Tat	p.H690Y	FCHSD2_ENST00000311172.7_Missense_Mutation_p.H634Y|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409314.1_Missense_Mutation_p.H714Y|FCHSD2_ENST00000458644.2_Missense_Mutation_p.H554Y|FCHSD2_ENST00000409263.1_Missense_Mutation_p.H51Y	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	690										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GACTCAGCATGAAGGCTTTTT	0.453																																																	0													100	91	94					11																	72551993		2200	4293	6493	SO:0001583	missense	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.2068C>T	11.37:g.72551993G>A	ENSP00000386722:p.His690Tyr		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.H690Y	ENST00000409418.4	37	c.2068	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759560	0.31137	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409263;ENST00000458644	T;T;T;T	0.13420	2.59;2.7;2.71;2.59	5.3	3.35	0.38373	.	0.935801	0.09039	N	0.857524	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.20368	0.0;0.044	B;B	0.19946	0.0;0.027	T	0.47302	-0.9128	10	0.07030	T	0.85	-26.3113	3.1858	0.06601	0.083:0.2386:0.4181:0.2603	.	554;690	E7ENZ2;O94868	.;FCSD2_HUMAN	Y	634;714;690;51;554	ENSP00000308978:H634Y;ENSP00000386987:H714Y;ENSP00000386722:H690Y;ENSP00000402972:H554Y	ENSP00000308978:H634Y	H	-	1	0	FCHSD2	72229641	0.999000	0.42202	0.775000	0.31657	0.881000	0.50899	1.090000	0.30902	2.756000	0.94617	0.563000	0.77884	CAT	FCHSD2	-	NULL		0.453	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	G	NM_014824		72551993	-1	no_errors	ENST00000409418	ensembl	human	known	70_37	missense	SNP	0.017	A	A	72551993	G	A	72551993	3	1	103	1	0	0	0	0	1	0	0	0	5808	1290	45	1	162	1	FCHSD2	11	72551993	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6361799	72551993	62454523	164	15250										
CHCHD8	51287	genome.wustl.edu	37	chr11	73584276	73584276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tggctggcattgccgccagtCctggtgctgggccatgcact	14	13	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:73584276C>T	ENST00000355693.4	-	2	395	c.148G>A	c.(148-150)Gac>Aac	p.D50N	COA4_ENST00000541455.1_Missense_Mutation_p.D59N|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000545127.1_Missense_Mutation_p.D50N|COA4_ENST00000537289.1_Missense_Mutation_p.D50N	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	50	CHCH.					mitochondrion (GO:0005739)											TGCCGCCAGTCCTGGTGCTGG	0.617																																																	0													68	64	65					11																	73584276		2200	4293	6493	SO:0001583	missense	51287			AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"Coiled-coil-helix-coiled-coil-helix domain containing", "Mitochondrial respiratory chain complex assembly factors"	24604	protein-coding gene	gene with protein product		608016	"coiled-coil-helix-coiled-coil-helix domain containing 8"	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.148G>A	11.37:g.73584276C>T	ENSP00000347919:p.Asp50Asn		B2RAA0|Q69YU4	Missense_Mutation	SNP	NULL	p.D59N	ENST00000355693.4	37	c.175	CCDS8225.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.951082	0.97139	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	T;T;T	0.79653	-1.29;-1.29;-1.29	6.17	6.17	0.99709	CHCH (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	.	.	.	0.53005	D	0.999968	D	0.89917	1.0	D	0.80764	0.994	D	0.90589	0.4535	9	0.87932	D	0	0.3441	18.3732	0.90420	0.0:1.0:0.0:0.0	.	50	Q9NYJ1	CHCH8_HUMAN	N	50;50;59;50	ENSP00000347919:D50N;ENSP00000443795:D50N;ENSP00000437772:D50N	ENSP00000347919:D50N	D	-	1	0	CHCHD8	73261924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.891000	0.75639	2.941000	0.99782	0.655000	0.94253	GAC	COA4	-	NULL		0.617	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA4	HGNC	protein_coding	OTTHUMT00000397878.1	C	NM_016565		73584276	-1	no_errors	ENST00000541455	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73584276	C	T	73584276	3	4	103	1	0	0	0	0	1	0	0	0	3327	855	30	1	119	1	CHCHD8	11	73584276	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1032283	73584276	61422240	165	15251										
C2CD3	26005	genome.wustl.edu	37	chr11	73850738	73850738	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcgaggccttgatggaacctGaaactgggtactgctgggtt	15	8	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:73850738G>C	ENST00000334126.7	-	4	845	c.619C>G	c.(619-621)Cag>Gag	p.Q207E	C2CD3_ENST00000539061.1_Missense_Mutation_p.Q207E|C2CD3_ENST00000313663.7_Missense_Mutation_p.Q207E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	207					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GATGGAACCTGAAACTGGGTA	0.448																																																	0													220	220	220					11																	73850738		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.619C>G	11.37:g.73850738G>C	ENSP00000334379:p.Gln207Glu		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.Q207E	ENST00000334126.7	37	c.619		11	.	.	.	.	.	.	.	.	.	.	G	1.809	-0.475211	0.04414	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.09073	3.02;3.02	5.74	0.999	0.19862	.	1.472120	0.04028	N	0.301012	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.011	B;B	0.13407	0.009;0.008	T	0.34079	-0.9843	10	0.05351	T	0.99	2.5178	3.8374	0.08900	0.1679:0.1274:0.5668:0.1379	.	207;207	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	207	ENSP00000334379:Q207E;ENSP00000323339:Q207E	ENSP00000289350:Q207E	Q	-	1	0	C2CD3	73528386	0.998000	0.40836	0.771000	0.31576	0.836000	0.47400	0.957000	0.29215	0.300000	0.22699	0.650000	0.86243	CAG	C2CD3	-	NULL		0.448	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73850738	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.090	C	C	73850738	G	C	73850738	3	2	103	1	0	0	0	0	1	0	0	0	2159	1299	45	1	5384	1	C2CD3	11	73850738	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	266462	73850738	61155778	166	15252										
DGAT2	84649	genome.wustl.edu	37	chr11	75480139	75480139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaggacctgcgctgtcgcgcGaggggtctgggagatggggt	21	8	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:75480139G>C	ENST00000228027.7	+	1	363	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	DGAT2_ENST00000376262.3_Missense_Mutation_p.E35Q|CTD-2530H12.1_ENST00000499390.2_RNA|DGAT2_ENST00000605608.1_3'UTR	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	35					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GCTGTCGCGCGAGGGGTCTGG	0.667																																					Melanoma(35;811 1096 8354 24009 39363)												0													22	29	27					11																	75480139		2186	4261	6447	SO:0001583	missense	84649				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"diacylglycerol O-acyltransferase homolog 2 (mouse)"			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.103G>C	11.37:g.75480139G>C	ENSP00000228027:p.Glu35Gln		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	pfam_DAGAT	p.E35Q	ENST00000228027.7	37	c.103	CCDS31642.1	11	.	.	.	.	.	.	.	.	.	.	G	9.782	1.175687	0.21704	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.16597	2.74;2.33	4.41	2.36	0.29203	.	0.955264	0.08772	N	0.896079	T	0.10294	0.0252	L	0.29908	0.895	0.09310	N	1	B;B	0.26775	0.0;0.159	B;B	0.17433	0.0;0.018	T	0.36841	-0.9731	10	0.14656	T	0.56	-21.9982	4.8893	0.13719	0.1119:0.0:0.6791:0.209	.	35;35	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	Q	35;35;32	ENSP00000228027:E35Q;ENSP00000365438:E35Q	ENSP00000228027:E35Q	E	+	1	0	DGAT2	75157787	0.002000	0.14202	0.006000	0.13384	0.343000	0.28985	1.170000	0.31883	0.978000	0.38470	0.555000	0.69702	GAG	DGAT2	-	NULL		0.667	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2	HGNC	protein_coding	OTTHUMT00000383506.1	G	NM_032564		75480139	1	no_errors	ENST00000228027	ensembl	human	known	70_37	missense	SNP	0.001	C	C	75480139	G	C	75480139	3	2	103	1	0	0	0	0	1	0	0	0	4468	1059	37	1	105	1	DGAT2	11	75480139	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1629401	75480139	59526377	167	15253										
USP35	57558	genome.wustl.edu	37	chr11	77924696	77924698	+	In_Frame_Del	DEL	AGG	AGG	-													0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcatctgtgttcccaggagcAggagaaggaggcccggagca					rs372492472|rs527938491		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:77924696_77924698delAGG	ENST00000529308.1	+	11	3155_3157	c.2894_2896delAGG	c.(2893-2898)caggag>cag	p.E966del	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_In_Frame_Del_p.E697del|USP35_ENST00000441408.2_In_Frame_Del_p.E552del|USP35_ENST00000530267.1_In_Frame_Del_p.E534del	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	966					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCCAGGAGCAGGAGAAGGAGGC	0.547																																																	0																																										SO:0001651	inframe_deletion	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2894_2896delAGG	11.37:g.77924696_77924698delAGG	ENSP00000431876:p.Glu966del			In_Frame_Del	DEL	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E966in_frame_del	ENST00000529308.1	37	c.2894_2896	CCDS41693.1	11																																																																																			USP35	-	NULL		0.547	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	AGG	XM_290527		77924698	1	no_errors	ENST00000529308	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	77924698	AGG	-	77924696	7	5	103	1	0	1	0	1	0	0	0	0	17097	188	7	0	2932	0	USP35	11	77924696	In_Frame_Del	DEL	AGG	TCGA-EK-A2R8-01A-21D-A18J-09	2444557	77924696	57081820	168	15254										
CASP5	838	genome.wustl.edu	37	chr11	104879737	104879737	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atataaagactccttcaactCtgggcacagcttaaagagtt	7	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:104879737C>T	ENST00000260315.3	-	2	7				CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.R6K|CASP5_ENST00000526056.1_Missense_Mutation_p.R6K|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCCTTCAACTCTGGGCACAGC	0.368																																																	0													112	96	100					11																	104879737		692	1591	2283	SO:0001627	intron_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.8-30G>A	11.37:g.104879737C>T			B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R6K	ENST00000260315.3	37	c.17	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	0	-2.812764	0.00073	.	.	ENSG00000137757	ENST00000393141;ENST00000526056	T;T	0.01745	4.66;4.66	1.13	-2.27	0.06846	.	.	.	.	.	T	0.01124	0.0037	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47182	-0.9137	7	.	.	.	.	3.7699	0.08637	0.3868:0.2051:0.4081:0.0	.	6	P51878-5	.	K	6	ENSP00000376849:R6K;ENSP00000436877:R6K	.	R	-	2	0	CASP5	104384947	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.218000	0.02976	-1.832000	0.01196	-1.462000	0.01023	AGA	CASP5	-	NULL		0.368	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	C	NM_004347		104879737	-1	no_errors	ENST00000393141	ensembl	human	known	70_37	missense	SNP	0.000	T	T	104879737	C	T	104879737	1	4	103	0	1	0	0	0	0	0	0	0	2679	913	32	1		1	CASP5	11	104879737	Intron	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	26955041	104879737	30126779	169	15255										
ZW10	9183	genome.wustl.edu	37	chr11	113610023	113610023	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cgcaatctgaactgatgcccGagggtcagcaagtggtgagc	14	10	2	3	rs146253851		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:113610023G>A	ENST00000200135.3	-	12	1809	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	555					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ACTGATGCCCGAGGGTCAGCA	0.488																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	163	145	151		1665	-11.4	0.1	11	dbSNP_134	151	0,8592		0,0,4296	no	coding-synonymous	ZW10	NM_004724.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		555/780	113610023	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1665C>T	11.37:g.113610023G>A			A1A528	Silent	SNP	pfam_RZZ-complex_Zw10	p.L555	ENST00000200135.3	37	c.1665	CCDS8363.1	11																																																																																			ZW10	-	pfam_RZZ-complex_Zw10		0.488	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	G	NM_004724		113610023	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	silent	SNP	0.038	A	A	113610023	G	A	113610023	2	1	103	1	0	0	0	0	0	0	0	1	18277	1045	37	1		1	ZW10	11	113610023	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	8730286	113610023	21396493	170	15256										
TTC36	143941	genome.wustl.edu	37	chr11	118399332	118399332	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcccagatgaagttttccctCaagcacagctggaacagtcc	9	13	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:118399332C>G	ENST00000302783.4	+	2	156	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	TMEM25_ENST00000533102.1_5'Flank|TMEM25_ENST00000354284.4_5'Flank|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000359862.4_5'Flank|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000411589.2_5'Flank|TMEM25_ENST00000544878.1_5'Flank|TMEM25_ENST00000313236.5_5'Flank|TMEM25_ENST00000354064.7_5'Flank|TMEM25_ENST00000524725.1_5'Flank|RP11-770J1.3_ENST00000554407.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000442938.2_5'Flank	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	45										lung(2)	2						AGTTTTCCCTCAAGCACAGCT	0.572																																																	0													67	67	67					11																	118399332		2200	4295	6495	SO:0001583	missense	143941			EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"Tetratricopeptide (TTC) repeat domain containing"	33708	protein-coding gene	gene with protein product	"HSP70 binding protein 21"						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.133C>G	11.37:g.118399332C>G	ENSP00000307640:p.Gln45Glu		B7ZW72|B9EJD8	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q45E	ENST00000302783.4	37	c.133	CCDS31687.1	11	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222288	0.06061	.	.	ENSG00000172425	ENST00000302783	T	0.27557	1.66	5.27	2.0	0.26442	.	0.426837	0.26642	N	0.023245	T	0.14917	0.0360	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.02654	T	1	1.2906	8.4816	0.33045	0.0:0.5947:0.2502:0.155	.	45	A6NLP5	TTC36_HUMAN	E	45	ENSP00000307640:Q45E	ENSP00000307640:Q45E	Q	+	1	0	TTC36	117904542	0.000000	0.05858	0.995000	0.50966	0.975000	0.68041	-0.648000	0.05391	0.568000	0.29311	0.561000	0.74099	CAA	TTC36	-	NULL		0.572	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC36	HGNC	protein_coding	OTTHUMT00000389241.2	C	NM_001080441		118399332	1	no_errors	ENST00000302783	ensembl	human	known	70_37	missense	SNP	0.998	G	G	118399332	C	G	118399332	3	3	103	1	0	0	0	0	1	0	0	0	16735	827	29	1	139	1	TTC36	11	118399332	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	4789309	118399332	16607184	171	15257										
IFT46	56912	genome.wustl.edu	37	chr11	118415714	118415714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgctttcttgccttcagcgaGagctttaaaatgctgcaagg	10	9	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:118415714G>C	ENST00000264021.3	-	12	1250	c.832C>G	c.(832-834)Ctc>Gtc	p.L278V	TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Missense_Mutation_p.L329V|IFT46_ENST00000530872.1_3'UTR|TMEM25_ENST00000442938.2_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	278					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTTCAGCGAGAGCTTTAAAA	0.408																																																	0													104	99	100					11																	118415714		2200	4295	6495	SO:0001583	missense	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.832C>G	11.37:g.118415714G>C	ENSP00000264021:p.Leu278Val		A8K0F6|Q9H6V5	Missense_Mutation	SNP	pfam_Intraflagellar_transp_cmplxB	p.L329V	ENST00000264021.3	37	c.985	CCDS53718.1	11	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378375	0.42207	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.47528	0.85;0.84	6.03	3.96	0.45880	.	0.153197	0.43579	D	0.000546	T	0.59891	0.2227	L	0.55481	1.735	0.80722	D	1	P;D	0.71674	0.816;0.998	B;D	0.77557	0.115;0.99	T	0.61441	-0.7062	10	0.62326	D	0.03	-6.5642	9.3013	0.37847	0.2602:0.0:0.7398:0.0	.	278;329	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	V	278;329	ENSP00000264021:L278V;ENSP00000264020:L329V	ENSP00000264020:L329V	L	-	1	0	IFT46	117920924	0.996000	0.38824	0.984000	0.44739	0.838000	0.47535	1.026000	0.30103	1.541000	0.49316	0.655000	0.94253	CTC	IFT46	-	NULL		0.408	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	HGNC	protein_coding	OTTHUMT00000389627.1	G	NM_020153		118415714	-1	no_errors	ENST00000264020	ensembl	human	known	70_37	missense	SNP	0.998	C	C	118415714	G	C	118415714	3	2	103	1	0	0	0	0	1	0	0	0	7580	942	33	1	86	1	IFT46	11	118415714	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	16382	118415714	16590802	172	15258										
GRIK4	2900	genome.wustl.edu	37	chr11	120831691	120831691	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcctgaccgtgcagcgcatgGatgtgcccattgagtcagtg	13	11	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:120831691G>C	ENST00000527524.2	+	17	2235	c.1948G>C	c.(1948-1950)Gat>Cat	p.D650H	GRIK4_ENST00000438375.2_Missense_Mutation_p.D650H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	650					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCAGCGCATGGATGTGCCCAT	0.532																																																	0													142	112	122					11																	120831691		2203	4299	6502	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1948G>C	11.37:g.120831691G>C	ENSP00000435648:p.Asp650His		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D650H	ENST00000527524.2	37	c.1948	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.145381	0.94603	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.53640	0.61;0.61	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.200064	0.51477	D	0.000086	T	0.62925	0.2468	L	0.42632	1.34	0.80722	D	1	D;D	0.57899	0.966;0.981	D;D	0.68483	0.958;0.958	T	0.63510	-0.6621	10	0.62326	D	0.03	.	19.0461	0.93020	0.0:0.0:1.0:0.0	.	650;650	A6H8K8;Q16099	.;GRIK4_HUMAN	H	650	ENSP00000435648:D650H;ENSP00000404063:D650H	ENSP00000404063:D650H	D	+	1	0	GRIK4	120336901	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	2.593000	0.87608	0.655000	0.94253	GAT	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120831691	1	no_errors	ENST00000527524	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120831691	G	C	120831691	3	2	103	1	0	0	0	0	1	0	0	0	6796	1174	41	1	2006	1	GRIK4	11	120831691	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2415977	120831691	14174825	173	15259										
SORL1	6653	genome.wustl.edu	37	chr11	121367720	121367720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgaggaagtgagagattttCagcttcgggacaagtacatg	13	5	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:121367720C>G	ENST00000260197.7	+	6	1030	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	301					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGAGATTTTCAGCTTCGGGA	0.428																																																	0													99	96	97					11																	121367720		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.901C>G	11.37:g.121367720C>G	ENSP00000260197:p.Gln301Glu		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Q301E	ENST00000260197.7	37	c.901	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646562	0.67358	.	.	ENSG00000137642	ENST00000260197	T	0.28895	1.59	5.7	5.7	0.88788	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	N	0.10916	0.065	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.25152	-1.0140	10	0.21014	T	0.42	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	301	Q92673	SORL_HUMAN	E	301	ENSP00000260197:Q301E	ENSP00000260197:Q301E	Q	+	1	0	SORL1	120872930	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.836000	0.69375	2.683000	0.91414	0.655000	0.94253	CAG	SORL1	-	smart_VPS10		0.428	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121367720	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121367720	C	G	121367720	3	3	103	1	0	0	0	0	1	0	0	0	14964	827	29	1	923	1	SORL1	11	121367720	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	536029	121367720	13638796	174	15260										
HSPA8	3312	genome.wustl.edu	37	chr11	122928447	122928447	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctacacttggttggcttaatCaacctcttcaatggtgggcc	9	11	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:122928447C>G	ENST00000532636.1	-	9	2055	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	HSPA8_ENST00000526862.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.D646H|HSPA8_ENST00000227378.3_Missense_Mutation_p.D646H|HSPA8_ENST00000526110.1_Missense_Mutation_p.D627H|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.D493H|HSPA8_ENST00000533540.1_Missense_Mutation_p.D500H|HSPA8_ENST00000534319.1_Missense_Mutation_p.D410H|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	646					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGGCTTAATCAACCTCTTCA	0.473																																					Colon(21;486 594 5900 6733 14272)												0													62	65	64					11																	122928447		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1936G>C	11.37:g.122928447C>G	ENSP00000437125:p.Asp646His		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D646H	ENST00000532636.1	37	c.1936	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384438	0.82792	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110	T;T;T;T;T;T;T	0.11063	4.64;3.93;4.64;2.81;4.64;3.46;4.71	4.65	4.65	0.58169	.	0.106594	0.64402	D	0.000016	T	0.47637	0.1456	H	0.96142	3.775	0.80722	D	1	D;D;D	0.58970	0.972;0.984;0.972	P;D;D	0.70487	0.861;0.934;0.969	T	0.67229	-0.5723	10	0.87932	D	0	.	17.8802	0.88838	0.0:1.0:0.0:0.0	.	646;493;646	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	H	646;500;646;493;646;410;627	ENSP00000437125:D646H;ENSP00000437189:D500H;ENSP00000432083:D646H;ENSP00000404372:D493H;ENSP00000227378:D646H;ENSP00000433316:D410H;ENSP00000433584:D627H	ENSP00000227378:D646H	D	-	1	0	HSPA8	122433657	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.815000	0.86186	2.285000	0.76669	0.561000	0.74099	GAT	HSPA8	-	NULL		0.473	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122928447	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122928447	C	G	122928447	3	3	103	1	0	0	0	0	1	0	0	0	7436	826	29	1	8	1	HSPA8	11	122928447	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1560727	122928447	12078069	175	15261										
TMEM225	338661	genome.wustl.edu	37	chr11	123755273	123755273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agataggtgaatttcataccCaggattaagttaaggaggaa	11	4	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:123755273C>T	ENST00000375026.2	-	2	468	c.252G>A	c.(250-252)ctG>ctA	p.L84L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	84					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTTCATACCCAGGATTAAGT	0.423																																																	0													122	125	124					11																	123755273		2202	4299	6501	SO:0001819	synonymous_variant	338661			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.252G>A	11.37:g.123755273C>T				Silent	SNP	NULL	p.L84	ENST00000375026.2	37	c.252	CCDS31697.1	11																																																																																			TMEM225	-	NULL		0.423	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1	C	NM_001013743		123755273	-1	no_errors	ENST00000375026	ensembl	human	known	70_37	silent	SNP	0.474	T	T	123755273	C	T	123755273	2	4	103	1	0	0	0	0	0	0	0	1	16177	581	21	4		4	TMEM225	11	123755273	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	826826	123755273	11251243	176	15262										
NRIP2	83714	genome.wustl.edu	37	chr12	2937120	2937120	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgtgccgagcacaccacagtCtcctgccccagctgtagctc	9	17	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:2937120C>T	ENST00000337508.4	-	4	712	c.672G>A	c.(670-672)gaG>gaA	p.E224E	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	224					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACACCACAGTCTCCTGCCCCA	0.612																																																	0													58	58	58					12																	2937120		2203	4300	6503	SO:0001819	synonymous_variant	83714			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.672G>A	12.37:g.2937120C>T			A2RRE3|B4DV61	Silent	SNP	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	p.E224	ENST00000337508.4	37	c.672	CCDS8514.1	12																																																																																			NRIP2	-	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic		0.612	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP2	HGNC	protein_coding	OTTHUMT00000253090.4	C	NM_031474		2937120	-1	no_errors	ENST00000337508	ensembl	human	known	70_37	silent	SNP	0.998	T	T	2937120	C	T	2937120	2	4	103	1	0	0	0	0	0	0	0	1	10677	912	32	1		1	NRIP2	12	2937120	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		2937120	130914775	177	15263										
GUCY2C	2984	genome.wustl.edu	37	chr12	14840906	14840906	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaaattttcctgagtaggtcGaggccttcacaggtgctact	11	9	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:14840906G>C	ENST00000261170.3	-	2	445	c.309C>G	c.(307-309)ctC>ctG	p.L103L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	103					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGAGTAGGTCGAGGCCTTCAC	0.493																																																	0													96	91	92					12																	14840906		2203	4300	6503	SO:0001819	synonymous_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.309C>G	12.37:g.14840906G>C			B2RMY6	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L103	ENST00000261170.3	37	c.309	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_ANF_lig-bd_rcpt		0.493	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	G			14840906	-1	no_errors	ENST00000261170	ensembl	human	known	70_37	silent	SNP	0.006	C	C	14840906	G	C	14840906	2	2	103	1	0	0	0	0	0	0	0	1	6916	1045	37	1		1	GUCY2C	12	14840906	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	11903786	14840906	119010989	178	15264										
KRAS	3845	genome.wustl.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12C	ENST00000256078.4	37	c.34	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398285	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25398285	C	A	25398285	3	1	103	1	0	0	0	0	1	0	0	0	8458	594	21	4	672	4	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	10557379	25398285	108453610	179	15265										
C12orf41	54934	genome.wustl.edu	37	chr12	49072853	49072853	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgatcactgtctatgctatCagcttcactgtcagggtcac	8	11	6	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:49072853C>T	ENST00000420613.2	-	4	558	c.511G>A	c.(511-513)Gat>Aat	p.D171N	KANSL2_ENST00000553086.1_Missense_Mutation_p.D171N|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.D354N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	171					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TCTATGCTATCAGCTTCACTG	0.463																																																	0													109	107	108					12																	49072853		2033	4198	6231	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.511G>A	12.37:g.49072853C>T	ENSP00000415436:p.Asp171Asn		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.D171N	ENST00000420613.2	37	c.511	CCDS44869.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.209659	0.95069	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.87	4.98	0.66077	.	0.044558	0.85682	D	0.000000	D	0.82277	0.5002	L	0.40543	1.245	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.66351	0.943;0.654	D	0.84091	0.0390	10	0.72032	D	0.01	-0.1017	14.133	0.65268	0.0:0.9265:0.0:0.0735	.	354;171	F8VX10;Q9H9L4	.;CL041_HUMAN	N	354;171;171;108	ENSP00000449747:D354N;ENSP00000415436:D171N;ENSP00000448833:D171N;ENSP00000448129:D108N	ENSP00000415436:D171N	D	-	1	0	C12orf41	47359120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	1.477000	0.48234	0.563000	0.77884	GAT	KANSL2	-	NULL		0.463	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	C	NM_017822		49072853	-1	no_errors	ENST00000420613	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49072853	C	T	49072853	3	4	103	1	0	0	0	0	1	0	0	0	1691	826	29	1	995	1	C12orf41	12	49072853	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	23674568	49072853	84779042	180	15266										
KRT81	3887	genome.wustl.edu	37	chr12	52680187	52680187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcaccgccacgttcccgttgCacggagcgctgcagacactg	11	16	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:52680187C>T	ENST00000327741.5	-	9	1438	c.1370G>A	c.(1369-1371)tGc>tAc	p.C457Y	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	457	Tail.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCCCGTTGCACGGAGCGCT	0.692																																																	0													19	19	19					12																	52680187		2149	4200	6349	SO:0001583	missense	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1370G>A	12.37:g.52680187C>T	ENSP00000369349:p.Cys457Tyr		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.C457Y	ENST00000327741.5	37	c.1370	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253287	0.59212	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.81499	-1.5	4.85	3.96	0.45880	.	0.337672	0.21115	N	0.079907	T	0.81973	0.4936	M	0.63428	1.95	0.37956	D	0.932812	P	0.51933	0.949	P	0.58266	0.836	T	0.80171	-0.1493	10	0.02654	T	1	.	10.3999	0.44222	0.0:0.9069:0.0:0.0931	.	457	Q14533	KRT81_HUMAN	Y	457	ENSP00000369349:C457Y	ENSP00000369349:C457Y	C	-	2	0	KRT81	50966454	0.982000	0.34865	1.000000	0.80357	0.589000	0.36550	0.663000	0.25053	1.159000	0.42565	0.462000	0.41574	TGC	KRT81	-	NULL		0.692	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	C	NM_002281		52680187	-1	no_errors	ENST00000327741	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52680187	C	T	52680187	3	4	103	1	0	0	0	0	1	0	0	0	8515	710	25	4	151	4	KRT81	12	52680187	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	3607334	52680187	81171708	181	15267										
KRT85	3891	genome.wustl.edu	37	chr12	52757068	52757068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctcagcctcggcccggctgcGgctggcaacatcgtcatact	11	16	2	0	rs549707125		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:52757068G>A	ENST00000257901.3	-	5	988	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	KRT85_ENST00000544265.1_Missense_Mutation_p.R93C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	305	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCGGCTGCGGCTGGCAACA	0.562													G|||	1	0.000199681	0	0	5008	,	,		21054	0.001		0	False		,,,				2504	0																0													92	70	77					12																	52757068		2203	4300	6503	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.913C>T	12.37:g.52757068G>A	ENSP00000257901:p.Arg305Cys		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R305C	ENST00000257901.3	37	c.913	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715783	0.48622	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.89552	-2.53;-1.19	4.87	3.97	0.46021	Filament (1);	0.000000	0.64402	D	0.000015	D	0.88669	0.6499	M	0.80422	2.495	0.35792	D	0.822472	P	0.37525	0.598	B	0.41135	0.348	D	0.91252	0.5030	10	0.62326	D	0.03	.	7.4328	0.27137	0.0846:0.0:0.6019:0.3135	.	305	P78386	KRT85_HUMAN	C	305;93	ENSP00000257901:R305C;ENSP00000440240:R93C	ENSP00000257901:R305C	R	-	1	0	KRT85	51043335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.114000	0.31196	2.243000	0.73865	0.561000	0.74099	CGC	KRT85	-	pfam_F		0.562	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	G	NM_002283		52757068	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52757068	G	A	52757068	3	1	103	1	0	0	0	0	1	0	0	0	8519	1116	39	2	630	2	KRT85	12	52757068	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	76881	52757068	81094827	182	15268										
HOXC9	3225	genome.wustl.edu	37	chr12	54396299	54396299	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	taccagacgctggaactggaGaaggagtttctcttcaatat	10	8	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:54396299G>A	ENST00000303450.4	+	2	694	c.624G>A	c.(622-624)gaG>gaA	p.E208E	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.E208E|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	208					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E208E(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						TGGAACTGGAGAAGGAGTTTC	0.557																																																	1	Substitution - coding silent(1)	lung(1)											78	82	80					12																	54396299		2203	4300	6503	SO:0001819	synonymous_variant	3225				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.624G>A	12.37:g.54396299G>A			B2RCN7|Q9H1I0	Silent	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E208	ENST00000303450.4	37	c.624	CCDS8869.1	12																																																																																			HOXC9	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain		0.557	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	G			54396299	1	no_errors	ENST00000303450	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54396299	G	A	54396299	2	1	103	1	0	0	0	0	0	0	0	1	7337	933	33	1		1	HOXC9	12	54396299	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1639231	54396299	79455596	183	15269										
HOXC8	3224	genome.wustl.edu	37	chr12	54403491	54403491	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccagcctcatgtttccatgGatgagaccccacggtgagaa	10	13	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:54403491G>A	ENST00000040584.4	+	1	660	c.423G>A	c.(421-423)tgG>tgA	p.W141*	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	141					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGTTTCCATGGATGAGACCCC	0.547																																					GBM(197;701 2226 7002 18822 41696)												0													118	114	115					12																	54403491		2203	4300	6503	SO:0001587	stop_gained	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.423G>A	12.37:g.54403491G>A	ENSP00000040584:p.Trp141*		A8K4J4|O15221|O15362	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.W141*	ENST00000040584.4	37	c.423	CCDS8870.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.926908	0.97940	.	.	ENSG00000037965	ENST00000040584	.	.	.	4.01	4.01	0.46588	.	0.151148	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4245	0.75041	0.0:0.0:1.0:0.0	.	.	.	.	X	141	.	ENSP00000040584:W141X	W	+	3	0	HOXC8	52689758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.616000	0.98359	2.254000	0.74563	0.462000	0.41574	TGG	HOXC8	-	superfamily_Homeodomain-like		0.547	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	G			54403491	1	no_errors	ENST00000040584	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	54403491	G	A	54403491	4	1	103	1	0	0	0	0	0	1	0	0	7336	1183	41	1	425	1	HOXC8	12	54403491	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	7192	54403491	79448404	184	15270										
MARS	4141	genome.wustl.edu	37	chr12	57906036	57906036	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	taggtggacctgtatcagttCatggccaaagacaatgttcc	10	9	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:57906036C>T	ENST00000262027.5	+	14	1787	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	MARS_ENST00000315473.5_Silent_p.F317F|RN7SL312P_ENST00000582079.1_RNA|RNU6-594P_ENST00000517056.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	551					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTATCAGTTCATGGCCAAAG	0.498																																																	0													162	153	156					12																	57906036		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1653C>T	12.37:g.57906036C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.F551	ENST00000262027.5	37	c.1653	CCDS8942.1	12																																																																																			MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth		0.498	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57906036	1	no_errors	ENST00000262027	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57906036	C	T	57906036	2	4	103	1	0	0	0	0	0	0	0	1	9339	825	29	1		1	MARS	12	57906036	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	3502545	57906036	75945859	185	15271										
MBD6	114785	genome.wustl.edu	37	chr12	57919450	57919450	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tacaactggggagctgccctCagatccagcctggtgccctc	11	15	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:57919450C>G	ENST00000355673.3	+	6	1055	c.699C>G	c.(697-699)ctC>ctG	p.L233L	MBD6_ENST00000431731.2_Silent_p.L233L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	233	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GAGCTGCCCTCAGATCCAGCC	0.632																																																	0													120	137	131					12																	57919450		2203	4300	6503	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.699C>G	12.37:g.57919450C>G			Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L233	ENST00000355673.3	37	c.699	CCDS8944.1	12																																																																																			MBD6	-	NULL		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57919450	1	no_errors	ENST00000355673	ensembl	human	known	70_37	silent	SNP	0.998	G	G	57919450	C	G	57919450	2	3	103	1	0	0	0	0	0	0	0	1	9371	813	29	1		1	MBD6	12	57919450	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	13414	57919450	75932445	186	15272										
PTPRB	5787	genome.wustl.edu	37	chr12	70956771	70956771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctctcctggagattcccatCtgggttgtacaaaaagatgt	9	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:70956771C>G	ENST00000261266.5	-	14	3396	c.3367G>C	c.(3367-3369)Gat>Cat	p.D1123H	PTPRB_ENST00000334414.6_Missense_Mutation_p.D1341H|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1033H|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1340H|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1033H|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1033H|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1253H	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1123	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATTCCCATCTGGGTTGTAC	0.517																																																	0													93	88	89					12																	70956771		1902	4125	6027	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3367G>C	12.37:g.70956771C>G	ENSP00000261266:p.Asp1123His		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D1341H	ENST00000261266.5	37	c.4021	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375612	0.82682	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.097447	0.64402	D	0.000002	T	0.77089	0.4079	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.997;0.997;0.982;0.997;0.998;0.987	T	0.76000	-0.3119	10	0.52906	T	0.07	.	20.2361	0.98357	0.0:1.0:0.0:0.0	.	1033;1033;1220;1340;1341;1123;1253	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	H	1341;1033;1253;1033;1033;1123;1340;1220	ENSP00000334928:D1341H;ENSP00000393028:D1033H;ENSP00000448058:D1253H;ENSP00000438927:D1033H;ENSP00000447302:D1033H;ENSP00000261266:D1123H;ENSP00000448349:D1340H;ENSP00000446982:D1220H	ENSP00000261266:D1123H	D	-	1	0	PTPRB	69243038	1.000000	0.71417	0.410000	0.26471	0.780000	0.44128	5.491000	0.66887	2.791000	0.96007	0.591000	0.81541	GAT	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.517	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	C			70956771	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70956771	C	G	70956771	3	3	103	1	0	0	0	0	1	0	0	0	12826	913	32	1	2702	1	PTPRB	12	70956771	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	13037321	70956771	62895124	187	15273										
PTPRB	5787	genome.wustl.edu	37	chr12	70989914	70989914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgtatttactaccagcagtGagattgaaaaaagtgtattc	8	5	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:70989914G>A	ENST00000261266.5	-	3	548	c.519C>T	c.(517-519)ctC>ctT	p.L173L	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.L391L|PTPRB_ENST00000538708.1_Silent_p.L173L|PTPRB_ENST00000551525.1_Silent_p.L390L|PTPRB_ENST00000550857.1_Silent_p.L173L|PTPRB_ENST00000451516.2_Silent_p.L173L|PTPRB_ENST00000550358.1_Silent_p.L391L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACCAGCAGTGAGATTGAAAA	0.348																																																	0													78	76	76					12																	70989914		1848	4084	5932	SO:0001819	synonymous_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.519C>T	12.37:g.70989914G>A			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L391	ENST00000261266.5	37	c.1173	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.348	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	G			70989914	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70989914	G	A	70989914	2	1	103	1	0	0	0	0	0	0	0	1	12826	1277	45	1		1	PTPRB	12	70989914	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	33143	70989914	62861981	188	15274										
RASSF9	9182	genome.wustl.edu	37	chr12	86199213	86199213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gatgaatagtatggtcctggGaaatgatcagatgaactaat	11	4	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:86199213G>T	ENST00000361228.3	-	2	943	c.575C>A	c.(574-576)tCc>tAc	p.S192Y		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	192					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGTCCTGGGAAATGATCAG	0.378																																																	0													156	145	148					12																	86199213		1836	4097	5933	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.575C>A	12.37:g.86199213G>T	ENSP00000354884:p.Ser192Tyr		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	smart_Ras-assoc,pfscan_Ras-assoc	p.S192Y	ENST00000361228.3	37	c.575	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186227	0.57909	.	.	ENSG00000198774	ENST00000361228	T	0.52295	0.67	4.91	4.91	0.64330	.	0.216046	0.40908	D	0.000998	T	0.68091	0.2963	M	0.77103	2.36	0.47584	D	0.999468	D	0.76494	0.999	D	0.74023	0.982	T	0.64791	-0.6324	10	0.18710	T	0.47	-21.438	18.4584	0.90729	0.0:0.0:1.0:0.0	.	192	O75901	RASF9_HUMAN	Y	192	ENSP00000354884:S192Y	ENSP00000354884:S192Y	S	-	2	0	RASSF9	84723344	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.532000	0.67154	2.445000	0.82738	0.655000	0.94253	TCC	RASSF9	-	NULL		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	HGNC	protein_coding	OTTHUMT00000406109.1	G			86199213	-1	no_errors	ENST00000361228	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86199213	G	T	86199213	3	4	103	1	0	0	0	0	1	0	0	0	13123	1174	41	3	736	3	RASSF9	12	86199213	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	15209299	86199213	47652682	189	15275										
C12orf63	144535	genome.wustl.edu	37	chr12	97137268	97137268	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acggaactgcaggctgaattCttgacgcaagctgtaattct	10	9	2	2	rs77529863	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:97137268C>G	ENST00000524981.4	+	53	7331	c.7308C>G	c.(7306-7308)ttC>ttG	p.F2436L				Q96N23	CL055_HUMAN		0																	AGGCTGAATTCTTGACGCAAG	0.413																																																	0													100	96	97					12																	97137268		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.7308C>G	12.37:g.97137268C>G	ENSP00000431759:p.Phe2436Leu			Missense_Mutation	SNP	NULL	p.F861L	ENST00000524981.4	37	c.2583		12	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503687	0.26949	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.59	1.54	0.23209	.	0.431115	0.22526	N	0.058915	T	0.25457	0.0619	L	0.41710	1.295	0.28048	N	0.933463	B	0.02656	0.0	B	0.01281	0.0	T	0.17228	-1.0376	9	0.13108	T	0.6	-14.2996	4.175	0.10348	0.2387:0.4454:0.2413:0.0746	.	861	Q6ZTY8	CL063_HUMAN	L	2436;861	.	ENSP00000345466:F861L	F	+	3	2	C12orf63	95661399	0.766000	0.28496	0.995000	0.50966	0.719000	0.41307	0.225000	0.17757	0.300000	0.22699	-0.475000	0.04921	TTC	C12orf55	-	NULL		0.413	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97137268	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.953	G	G	97137268	C	G	97137268	3	3	103	1	0	0	0	0	1	0	0	0	1710	912	32	1	2657	1	C12orf63	12	97137268	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	10938055	97137268	36714627	190	15276										
APAF1	317	genome.wustl.edu	37	chr12	99042552	99042552	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tggcattcctgttgtctcttCttccagtggtaaagattcag	9	9	3	1	rs150823984	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:99042552C>T	ENST00000551964.1	+	3	1023	c.287C>T	c.(286-288)tCt>tTt	p.S96F	APAF1_ENST00000333991.1_Missense_Mutation_p.S96F|APAF1_ENST00000357310.1_Missense_Mutation_p.S96F|APAF1_ENST00000547743.1_Missense_Mutation_p.S96F|APAF1_ENST00000339433.3_Missense_Mutation_p.S96F|APAF1_ENST00000547045.1_Missense_Mutation_p.S96F|APAF1_ENST00000550527.1_Missense_Mutation_p.S96F|APAF1_ENST00000549007.1_Missense_Mutation_p.S96F|APAF1_ENST00000552268.1_Missense_Mutation_p.S96F|APAF1_ENST00000359972.2_Missense_Mutation_p.S96F	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	96	Poly-Ser.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTTGTCTCTTCTTCCAGTGGT	0.363																																																	0								C	PHE/SER,PHE/SER,PHE/SER,PHE/SER,PHE/SER	1,4405	2.1+/-5.4	0,1,2202	201	198	199		287,287,287,287,287	4.7	0.9	12	dbSNP_134	199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	APAF1	NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1	155,155,155,155,155	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	96/1195,96/1238,96/1249,96/1206,96/339	99042552	2,13004	2203	4300	6503	SO:0001583	missense	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.287C>T	12.37:g.99042552C>T	ENSP00000448165:p.Ser96Phe		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S96F	ENST00000551964.1	37	c.287	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258828	0.80246	2.27E-4	1.16E-4	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;D;T;T;D;T;T	0.81821	0.14;-1.54;0.22;0.33;-1.54;0.22;0.33	5.64	4.74	0.60224	DEATH-like (1);	0.320582	0.38837	N	0.001550	D	0.86184	0.5872	L	0.60455	1.87	0.31634	N	0.648673	P;P;P;P;D	0.71674	0.842;0.927;0.801;0.933;0.998	B;P;P;B;D	0.79108	0.33;0.686;0.476;0.385;0.992	D	0.83390	0.0017	10	0.10377	T	0.69	0.8413	16.7479	0.85477	0.0:0.871:0.129:0.0	.	96;96;96;96;96	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	F	96	ENSP00000448165:S96F;ENSP00000353059:S96F;ENSP00000349862:S96F;ENSP00000341830:S96F;ENSP00000448449:S96F;ENSP00000449791:S96F;ENSP00000448161:S96F	ENSP00000334558:S96F	S	+	2	0	APAF1	97566683	1.000000	0.71417	0.883000	0.34634	0.922000	0.55478	4.957000	0.63652	1.328000	0.45358	0.655000	0.94253	TCT	APAF1	-	pirsf_Apoptotic_pept-activating_1		0.363	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99042552	1	no_errors	ENST00000551964	ensembl	human	known	70_37	missense	SNP	0.501	T	T	99042552	C	T	99042552	3	4	103	1	0	0	0	0	1	0	0	0	755	913	32	1	293	1	APAF1	12	99042552	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1905284	99042552	34809343	191	15277										
WSCD2	9671	genome.wustl.edu	37	chr12	108634216	108634216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agatcgaggccttcgacgccGccatcctgctcatccgcaac	9	17	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:108634216G>A	ENST00000332082.4	+	9	2058	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	WSCD2_ENST00000547525.1_Missense_Mutation_p.A414T|WSCD2_ENST00000261400.3_Missense_Mutation_p.A414T|WSCD2_ENST00000549903.1_Missense_Mutation_p.A414T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	414						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTTCGACGCCGCCATCCTGCT	0.607																																																	0													107	116	113					12																	108634216		2041	4197	6238	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1240G>A	12.37:g.108634216G>A	ENSP00000331933:p.Ala414Thr		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.A414T	ENST00000332082.4	37	c.1240	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119676	0.77323	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.36699	1.24;4.64;1.24;4.64	4.9	4.9	0.64082	.	0.097747	0.64402	D	0.000001	T	0.44008	0.1273	M	0.80028	2.48	0.58432	D	0.99999	P;P	0.43352	0.804;0.571	B;B	0.38156	0.266;0.078	T	0.57046	-0.7878	10	0.72032	D	0.01	-38.815	17.3052	0.87192	0.0:0.0:1.0:0.0	.	414;414	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	T	414	ENSP00000448047:A414T;ENSP00000261400:A414T;ENSP00000331933:A414T;ENSP00000447272:A414T	ENSP00000261400:A414T	A	+	1	0	WSCD2	107158346	1.000000	0.71417	0.956000	0.39512	0.968000	0.65278	5.793000	0.69060	2.551000	0.86045	0.644000	0.83932	GCC	WSCD2	-	NULL		0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108634216	1	no_errors	ENST00000261400	ensembl	human	known	70_37	missense	SNP	0.994	A	A	108634216	G	A	108634216	3	1	103	1	0	0	0	0	1	0	0	0	17438	1087	38	2	1266	2	WSCD2	12	108634216	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	9591664	108634216	25217679	192	15278										
ALDH2	217	genome.wustl.edu	37	chr12	112230491	112230491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccggaccttcgtgcaggagGacatctatgatgagtttgtg	13	9	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:112230491G>A	ENST00000261733.2	+	9	1049	c.988G>A	c.(988-990)Gac>Aac	p.D330N	ALDH2_ENST00000416293.3_Missense_Mutation_p.D283N	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	330					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CGTGCAGGAGGACATCTATGA	0.632			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0													34	29	30					12																	112230491		2203	4300	6503	SO:0001583	missense	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.988G>A	12.37:g.112230491G>A	ENSP00000261733:p.Asp330Asn		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.D330N	ENST00000261733.2	37	c.988	CCDS9155.1	12	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448054	0.26074	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.17370	2.28;2.28	5.75	3.91	0.45181	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.225121	0.52532	N	0.000067	T	0.15522	0.0374	L	0.39898	1.24	0.32891	D	0.511823	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.001	T	0.06643	-1.0815	10	0.40728	T	0.16	.	12.7163	0.57117	0.1311:0.0:0.8689:0.0	.	283;254;330	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	N	283;330;254;190	ENSP00000403349:D283N;ENSP00000261733:D330N	ENSP00000261733:D330N	D	+	1	0	ALDH2	110714874	1.000000	0.71417	0.799000	0.32177	0.137000	0.21094	4.134000	0.57990	0.762000	0.33152	0.655000	0.94253	GAC	ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.632	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1	G	NM_000690		112230491	1	no_errors	ENST00000261733	ensembl	human	known	70_37	missense	SNP	0.939	A	A	112230491	G	A	112230491	3	1	103	1	0	0	0	0	1	0	0	0	496	1174	41	1	1022	1	ALDH2	12	112230491	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3596275	112230491	21621404	193	15279										
C12orf51	283450	genome.wustl.edu	37	chr12	112617099	112617099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	taagataaatgtcagagactCtgatgggcttcgctggtgtc	12	7	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:112617099C>T	ENST00000430131.2	-	62	10969	c.9824G>A	c.(9823-9825)aGa>aAa	p.R3275K	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3551K|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3525K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3275					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTCAGAGACTCTGATGGGCTT	0.537																																																	0													76	85	82					12																	112617099		2039	4203	6242	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9824G>A	12.37:g.112617099C>T	ENSP00000404379:p.Arg3275Lys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R3525K	ENST00000430131.2	37	c.10574		12	.	.	.	.	.	.	.	.	.	.	C	9.395	1.076545	0.20227	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.38401	1.14;1.14;1.14	5.62	4.58	0.56647	.	.	.	.	.	T	0.11750	0.0286	N	0.02539	-0.55	0.31208	N	0.69901	B	0.02656	0.0	B	0.01281	0.0	T	0.28459	-1.0043	9	0.05436	T	0.98	.	5.332	0.15938	0.0:0.1668:0.0:0.8332	.	3275	Q9Y4D8	K0614_HUMAN	K	3525;3275;3551	ENSP00000366783:R3525K;ENSP00000404379:R3275K;ENSP00000449784:R3551K	ENSP00000366783:R3525K	R	-	2	0	C12orf51	111101482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.847000	0.69451	1.154000	0.42482	0.591000	0.81541	AGA	HECTD4	-	NULL		0.537	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112617099	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112617099	C	T	112617099	3	4	103	1	0	0	0	0	1	0	0	0	1700	913	32	1	2222	1	C12orf51	12	112617099	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	386608	112617099	21234796	194	15280										
SBNO1	55206	genome.wustl.edu	37	chr12	123813354	123813354	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tatacttgccgccagactggCtttcaccaataagtgaagag	9	10	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:123813354C>G	ENST00000602398.1	-	10	1350	c.1223G>C	c.(1222-1224)aGc>aCc	p.S408T	SBNO1_ENST00000420886.2_Missense_Mutation_p.S408T|SBNO1_ENST00000602750.1_Missense_Mutation_p.S407T|SBNO1_ENST00000267176.4_Missense_Mutation_p.S407T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	408					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCCAGACTGGCTTTCACCAAT	0.353																																																	0													136	130	132					12																	123813354		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1223G>C	12.37:g.123813354C>G	ENSP00000473665:p.Ser408Thr		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.S408T	ENST00000602398.1	37	c.1223	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900199	0.72754	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.35048	1.33;1.33	5.53	5.53	0.82687	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.76838	2.35	0.80722	D	1	B;B;D	0.56035	0.392;0.094;0.974	B;B;D	0.70487	0.246;0.234;0.969	T	0.63129	-0.6706	10	0.48119	T	0.1	-26.5549	19.4671	0.94946	0.0:1.0:0.0:0.0	.	408;407;406	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	T	408;407;407	ENSP00000387361:S408T;ENSP00000267176:S407T	ENSP00000267176:S407T	S	-	2	0	SBNO1	122379307	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.603000	0.88011	0.313000	0.20887	AGC	SBNO1	-	pfam_Helicase/UvrB_dom		0.353	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123813354	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123813354	C	G	123813354	3	3	103	1	0	0	0	0	1	0	0	0	13892	797	28	4	3050	4	SBNO1	12	123813354	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	11196255	123813354	10038541	195	15281										
CENPJ	55835	genome.wustl.edu	37	chr13	25458528	25458528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgacagtgatggtcttcccaTctgcactcacttcctttcga	7	13	3	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:25458528T>C	ENST00000381884.4	-	14	3736	c.3551A>G	c.(3550-3552)gAt>gGt	p.D1184G	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1184					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGTCTTCCCATCTGCACTCAC	0.433																																																	0													141	129	133					13																	25458528		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3551A>G	13.37:g.25458528T>C	ENSP00000371308:p.Asp1184Gly		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	pfam_Tcp10_C_dom	p.D1184G	ENST00000381884.4	37	c.3551	CCDS9310.1	13	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682874	0.88542	.	.	ENSG00000151849	ENST00000381884	D	0.81579	-1.51	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.86028	2.79	0.80722	D	1	P	0.50272	0.933	P	0.62298	0.9	D	0.91159	0.4959	10	0.72032	D	0.01	.	15.3655	0.74519	0.0:0.0:0.0:1.0	.	1184	Q9HC77	CENPJ_HUMAN	G	1184	ENSP00000371308:D1184G	ENSP00000371308:D1184G	D	-	2	0	CENPJ	24356528	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.313000	0.78978	2.271000	0.75665	0.459000	0.35465	GAT	CENPJ	-	pfam_Tcp10_C_dom		0.433	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	T	NM_018451		25458528	-1	no_errors	ENST00000381884	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25458528	T	C	25458528	3	2	103	1	0	0	0	0	1	0	0	0	3239	1435	50	5	481	5	CENPJ	13	25458528	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09		25458528	89711350	196	15282										
SUCLA2	8803	genome.wustl.edu	37	chr13	48562678	48562678	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atgtctacaattactcacttGaaatgacctttccattgtta	4	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:48562678G>A	ENST00000378654.3	-	4	588	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	SUCLA2_ENST00000534875.1_Nonsense_Mutation_p.Q120*|SUCLA2_ENST00000543413.1_Nonsense_Mutation_p.Q120*|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_Nonsense_Mutation_p.Q44*	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	178	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTACTCACTTGAAATGACCTT	0.333																																																	0													147	136	140					13																	48562678		2202	4298	6500	SO:0001587	stop_gained	8803			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.532C>T	13.37:g.48562678G>A	ENSP00000367923:p.Gln178*		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Nonsense_Mutation	SNP	pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	p.Q178*	ENST00000378654.3	37	c.532	CCDS9406.1	13	.	.	.	.	.	.	.	.	.	.	g	27.6	4.845545	0.91197	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.8921	18.1696	0.89740	0.0:0.0:1.0:0.0	.	.	.	.	X	178;156;108;44;120;120;6;108	.	ENSP00000367909:Q108X	Q	-	1	0	SUCLA2	47460679	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.409000	0.80053	2.538000	0.85594	0.563000	0.77884	CAA	SUCLA2	-	pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu		0.333	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLA2	HGNC	protein_coding	OTTHUMT00000044852.1	G			48562678	-1	no_errors	ENST00000378654	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	48562678	G	A	48562678	4	1	103	1	0	0	0	0	0	1	0	0	15393	1299	45	1	891	1	SUCLA2	13	48562678	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	23104150	48562678	66607200	197	15283										
TUBGCP3	10426	genome.wustl.edu	37	chr13	113213684	113213684	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgaggctcagcaagaggtaGagtattgaccatttattttt	10	6	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:113213684G>A	ENST00000261965.3	-	4	468	c.282C>T	c.(280-282)ctC>ctT	p.L94L	TUBGCP3_ENST00000375669.3_Silent_p.L94L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	94					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCAAGAGGTAGAGTATTGACC	0.458																																																	0													72	68	69					13																	113213684		2203	4300	6503	SO:0001819	synonymous_variant	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.282C>T	13.37:g.113213684G>A			O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	pfam_Spc97_Spc98	p.L94	ENST00000261965.3	37	c.282	CCDS9525.1	13																																																																																			TUBGCP3	-	NULL		0.458	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	G	NM_006322		113213684	-1	no_errors	ENST00000261965	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113213684	G	A	113213684	2	1	103	1	0	0	0	0	0	0	0	1	16798	929	33	1		1	TUBGCP3	13	113213684	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	64651006	113213684	1956194	198	15284										
NFATC4	4776	genome.wustl.edu	37	chr14	24838969	24838969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	catccgcatcacctccatctCtcccacgccggagccgccag	7	21	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:24838969C>G	ENST00000250373.4	+	2	506	c.365C>G	c.(364-366)tCt>tGt	p.S122C	NFATC4_ENST00000553879.1_Missense_Mutation_p.S52C|NFATC4_ENST00000539237.2_Missense_Mutation_p.S154C|NFATC4_ENST00000556279.1_Missense_Mutation_p.S154C|NFATC4_ENST00000422617.3_Missense_Mutation_p.S110C|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.S185C|NFATC4_ENST00000554661.1_Missense_Mutation_p.S52C|NFATC4_ENST00000557451.1_Missense_Mutation_p.S52C|NFATC4_ENST00000424781.2_Missense_Mutation_p.S135C|NFATC4_ENST00000413692.2_Missense_Mutation_p.S185C|NFATC4_ENST00000555453.1_Missense_Mutation_p.S110C|NFATC4_ENST00000553708.1_Missense_Mutation_p.S122C|NFATC4_ENST00000556169.1_Missense_Mutation_p.S110C|NFATC4_ENST00000554344.1_Missense_Mutation_p.S52C|NFATC4_ENST00000554050.1_Missense_Mutation_p.S122C|NFATC4_ENST00000555590.1_Missense_Mutation_p.S135C|NFATC4_ENST00000554966.1_Missense_Mutation_p.S135C|NFATC4_ENST00000553469.1_Missense_Mutation_p.S154C	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	122	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACCTCCATCTCTCCCACGCCG	0.682																																																	0													9	11	10					14																	24838969		2175	4249	6424	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.365C>G	14.37:g.24838969C>G	ENSP00000250373:p.Ser122Cys		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S185C	ENST00000250373.4	37	c.554	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882650	0.51908	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	3.76	2.87	0.33458	.	0.000000	0.64402	D	0.000007	T	0.28101	0.0693	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.65815	0.99;0.995;0.995;0.995;0.99;0.995;0.995;0.995;0.995;0.995;0.995;0.992;0.995;0.992	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.55824	0.642;0.713;0.785;0.785;0.726;0.785;0.785;0.785;0.785;0.785;0.785;0.707;0.785;0.615	T	0.01566	-1.1323	10	0.51188	T	0.08	-6.9657	8.6862	0.34238	0.0:0.8837:0.0:0.1163	.	110;110;154;154;135;135;135;185;185;110;154;99;185;122	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	C	185;185;135;135;135;154;154;154;122;122;122;122;99;52;52;52;110;52;110;110	ENSP00000388910:S185C;ENSP00000452039:S185C;ENSP00000451224:S135C;ENSP00000450644:S135C;ENSP00000388668:S135C;ENSP00000439350:S154C;ENSP00000452270:S154C;ENSP00000451502:S154C;ENSP00000451151:S122C;ENSP00000451853:S122C;ENSP00000250373:S122C;ENSP00000450590:S122C;ENSP00000452352:S99C;ENSP00000452349:S52C;ENSP00000450469:S52C;ENSP00000450733:S52C;ENSP00000451454:S110C;ENSP00000451284:S52C;ENSP00000396788:S110C;ENSP00000450686:S110C	ENSP00000250373:S122C	S	+	2	0	NFATC4	23908809	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	6.890000	0.75633	0.795000	0.33922	0.558000	0.71614	TCT	NFATC4	-	NULL		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	C	NM_004554		24838969	1	no_errors	ENST00000413692	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24838969	C	G	24838969	3	3	103	1	0	0	0	0	1	0	0	0	10389	913	32	1	564	1	NFATC4	14	24838969	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		24838969	82510571	199	15285										
RALGAPA1	253959	genome.wustl.edu	37	chr14	36147177	36147177	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tagatcatctggtgtctgaaGaacagagtggtggagcttct	13	6	4	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:36147177G>A	ENST00000389698.3	-	21	3475	c.3085C>T	c.(3085-3087)Ctt>Ttt	p.L1029F	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1042F|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1076F|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L1029F	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1029					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGTCTGAAGAACAGAGTGG	0.423																																																	0													88	80	83					14																	36147177		2203	4300	6503	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3085C>T	14.37:g.36147177G>A	ENSP00000374348:p.Leu1029Phe		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L1076F	ENST00000389698.3	37	c.3226	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422001	0.62622	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94862	-3.52;-3.52;-3.54;-3.52;-3.54	5.38	4.38	0.52667	.	0.102123	0.36665	N	0.002471	D	0.93314	0.7869	L	0.43152	1.355	0.45015	D	0.998033	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.994	D;D;D;D;P	0.91635	0.997;0.994;0.999;0.985;0.854	D	0.89039	0.3447	10	0.08381	T	0.77	-11.7412	3.5331	0.07784	0.3689:0.0:0.6311:0.0	.	1076;1042;1076;1029;1029	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	F	1029;1029;1029;1076;1042;1076	ENSP00000374348:L1029F;ENSP00000302647:L1029F;ENSP00000258840:L1076F;ENSP00000371803:L1042F;ENSP00000451877:L1076F	ENSP00000258840:L1076F	L	-	1	0	RALGAPA1	35216928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.178000	0.58284	2.519000	0.84933	0.591000	0.81541	CTT	RALGAPA1	-	NULL		0.423	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	G	XM_210022		36147177	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36147177	G	A	36147177	3	1	103	1	0	0	0	0	1	0	0	0	13043	942	33	1	3258	1	RALGAPA1	14	36147177	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	11308208	36147177	71202363	200	15286										
SFRS5	6430	genome.wustl.edu	37	chr14	70235952	70235952	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tatagttgagaatttatcctCaagagtcagctggcaggttt	10	6	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:70235952C>G	ENST00000553521.1	+	6	1803	c.350C>G	c.(349-351)tCa>tGa	p.S117*	SRSF5_ENST00000553635.1_Nonsense_Mutation_p.S114*|SRSF5_ENST00000554021.1_Nonsense_Mutation_p.S117*|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Nonsense_Mutation_p.S117*|SRSF5_ENST00000451983.2_Nonsense_Mutation_p.S117*|SRSF5_ENST00000394366.2_Nonsense_Mutation_p.S117*|SRSF5_ENST00000555349.1_Nonsense_Mutation_p.S117*			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	117	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AATTTATCCTCAAGAGTCAGC	0.333																																																	0													70	70	70					14																	70235952		2203	4300	6503	SO:0001587	stop_gained	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.350C>G	14.37:g.70235952C>G	ENSP00000452123:p.Ser117*		O14797|Q16662|Q49AD6|Q6FGE0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S117*	ENST00000553521.1	37	c.350	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086910	0.76642	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.4584	0.94904	0.0:1.0:0.0:0.0	.	.	.	.	X	117;117;117;117;117;114;117;117	.	ENSP00000377892:S117X	S	+	2	0	SRSF5	69305705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.725000	0.84808	2.581000	0.87130	0.655000	0.94253	TCA	SRSF5	-	NULL		0.333	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	C	NM_001039465		70235952	1	no_errors	ENST00000451983	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	70235952	C	G	70235952	4	3	103	1	0	0	0	0	0	1	0	0	14210	838	29	1	364	1	SFRS5	14	70235952	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	34088775	70235952	37113588	201	15287										
EIF2B2	8892	genome.wustl.edu	37	chr14	75471472	75471472	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agaacattgcagcccaggctCtggagcacattcactccaat	8	13	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:75471472C>G	ENST00000266126.5	+	4	546	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	156					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGCCCAGGCTCTGGAGCACAT	0.378																																																	0													77	75	75					14																	75471472		2203	4300	6503	SO:0001583	missense	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.466C>G	14.37:g.75471472C>G	ENSP00000266126:p.Leu156Val		O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.L156V	ENST00000266126.5	37	c.466	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698328	0.48307	.	.	ENSG00000119718	ENST00000266126	D	0.95980	-3.87	5.53	5.53	0.82687	.	0.146062	0.48286	D	0.000196	D	0.91185	0.7223	L	0.39514	1.22	0.51012	D	0.999908	P	0.35033	0.481	B	0.35899	0.213	D	0.87888	0.2682	10	0.02654	T	1	-12.3012	14.4883	0.67631	0.1466:0.8533:0.0:0.0	.	156	P49770	EI2BB_HUMAN	V	156	ENSP00000266126:L156V	ENSP00000266126:L156V	L	+	1	2	EIF2B2	74541225	0.925000	0.31364	0.994000	0.49952	0.967000	0.64934	1.952000	0.40343	2.882000	0.98803	0.655000	0.94253	CTG	EIF2B2	-	pfam_IF-2B-related		0.378	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	C	NM_014239		75471472	1	no_errors	ENST00000266126	ensembl	human	known	70_37	missense	SNP	0.989	G	G	75471472	C	G	75471472	3	3	103	1	0	0	0	0	1	0	0	0	5011	912	32	1	480	1	EIF2B2	14	75471472	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5235520	75471472	31878068	202	15288										
C14orf159	80017	genome.wustl.edu	37	chr14	91671151	91671151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcgcctgcgacgtggaggctGactttgccgtcattgctggt	14	11	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:91671151G>A	ENST00000523771.1	+	12	2134	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	C14orf159_ENST00000518868.1_Missense_Mutation_p.D516N|C14orf159_ENST00000256324.10_Missense_Mutation_p.D516N|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000428926.2_Missense_Mutation_p.D511N|C14orf159_ENST00000525393.2_Missense_Mutation_p.D387N|C14orf159_ENST00000522322.1_Missense_Mutation_p.D511N|C14orf159_ENST00000523816.1_Missense_Mutation_p.D511N|C14orf159_ENST00000412671.2_Missense_Mutation_p.D516N|C14orf159_ENST00000520328.1_Intron			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	511						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CGTGGAGGCTGACTTTGCCGT	0.632																																																	0													143	95	111					14																	91671151		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1531G>A	14.37:g.91671151G>A	ENSP00000429655:p.Asp511Asn		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	pfam_DUF1445,pirsf_UPF0317_mt	p.D516N	ENST00000523771.1	37	c.1546	CCDS32141.1	14	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145190	0.77888	.	.	ENSG00000133943	ENST00000256324;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.96	3.13	0.36017	.	0.053935	0.64402	D	0.000001	T	0.51210	0.1661	M	0.75447	2.3	0.47621	D	0.999473	P;D;P	0.71674	0.751;0.998;0.707	P;D;B	0.66979	0.472;0.948;0.341	T	0.52087	-0.8622	10	0.72032	D	0.01	.	11.0706	0.48002	0.1542:0.0:0.8458:0.0	.	511;387;516	Q7Z3D6;Q8NB88;Q7Z3D6-2	CN159_HUMAN;.;.	N	516;516;511;387;511;511;511;516	ENSP00000256324:D516N;ENSP00000428263:D516N;ENSP00000428974:D511N;ENSP00000435459:D387N;ENSP00000404343:D511N;ENSP00000427953:D511N;ENSP00000429655:D511N;ENSP00000404196:D516N	ENSP00000256324:D516N	D	+	1	0	C14orf159	90740904	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	6.061000	0.71148	0.504000	0.28082	0.591000	0.81541	GAC	C14orf159	-	pirsf_UPF0317_mt		0.632	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1	G	NM_024952		91671151	1	no_errors	ENST00000256324	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91671151	G	A	91671151	3	1	103	1	0	0	0	0	1	0	0	0	1759	1290	45	1	1584	1	C14orf159	14	91671151	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	16199679	91671151	15678389	203	15289										
ASB2	51676	genome.wustl.edu	37	chr14	94405849	94405849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cgcggagctgcgccggtcttCgtagaggcgcgcgcgctcgg	18	14	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:94405849C>T	ENST00000315988.4	-	6	1566	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000556337.1_5'UTR|ASB2_ENST00000555019.1_Missense_Mutation_p.E408K	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	360					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGCCGGTCTTCGTAGAGGCGC	0.706																																																	0													18	15	16					14																	94405849		2166	4249	6415	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1078G>A	14.37:g.94405849C>T	ENSP00000320675:p.Glu360Lys		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E360K	ENST00000315988.4	37	c.1078	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688233	0.68271	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.29142	2.4;2.4;1.58	4.85	4.85	0.62838	Ankyrin repeat-containing domain (3);	0.055134	0.64402	D	0.000001	T	0.39279	0.1072	N	0.12182	0.205	0.54753	D	0.999981	D;D;D	0.89917	0.986;1.0;0.975	P;D;P	0.83275	0.718;0.996;0.476	T	0.47182	-0.9137	10	0.49607	T	0.09	.	17.9837	0.89150	0.0:1.0:0.0:0.0	.	376;408;360	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	K	408;376;360;306;306	ENSP00000451575:E408K;ENSP00000320675:E360K;ENSP00000450940:E306K	ENSP00000320675:E360K	E	-	1	0	ASB2	93475602	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	5.951000	0.70273	2.244000	0.73946	0.462000	0.41574	GAA	ASB2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.706	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	C			94405849	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94405849	C	T	94405849	3	4	103	1	0	0	0	0	1	0	0	0	1024	893	31	1	697	1	ASB2	14	94405849	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2734698	94405849	12943691	204	15290										
PAPOLA	10914	genome.wustl.edu	37	chr14	97009200	97009200	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggctcatgtgaatccccagtCatttccagcacccaaagaaa	7	13	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:97009200C>G	ENST00000216277.8	+	14	1479	c.1259C>G	c.(1258-1260)tCa>tGa	p.S420*	PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.S420*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	420					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.S420*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AATCCCCAGTCATTTCCAGCA	0.393																																					NSCLC(19;254 734 11908 35501 39234)												1	Substitution - Nonsense(1)	endometrium(1)											119	128	125					14																	97009200		2203	4300	6503	SO:0001587	stop_gained	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1259C>G	14.37:g.97009200C>G	ENSP00000216277:p.Ser420*		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Nonsense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.S420*	ENST00000216277.8	37	c.1259	CCDS9946.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.423308	0.98275	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.2242	0.93812	0.0:1.0:0.0:0.0	.	.	.	.	X	420;436;420;170	.	ENSP00000216277:S420X	S	+	2	0	PAPOLA	96078953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.553000	0.86117	0.591000	0.81541	TCA	PAPOLA	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase		0.393	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	C			97009200	1	no_errors	ENST00000216277	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	97009200	C	G	97009200	4	3	103	1	0	0	0	0	0	1	0	0	11453	838	29	1	1313	1	PAPOLA	14	97009200	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2603351	97009200	10340340	205	15291										
PAK6	56924	genome.wustl.edu	37	chr15	40565662	40565662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtgactccatcctgctgaccCtcgatggcagggtaggtccc	12	14	0	2	rs544478594	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:40565662C>T	ENST00000542403.2	+	6	1717	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	PAK6_ENST00000260404.4_Missense_Mutation_p.L536F|PAK6_ENST00000453867.1_Missense_Mutation_p.L536F|PAK6_ENST00000560346.1_Missense_Mutation_p.L536F|PAK6_ENST00000441369.1_Missense_Mutation_p.L536F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.L536F	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCTGCTGACCCTCGATGGCAG	0.602													C|||	2	0.000399361	0	0	5008	,	,		20453	0		0	False		,,,				2504	0.002																0													100	83	89					15																	40565662		2203	4300	6503	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1606C>T	15.37:g.40565662C>T	ENSP00000439597:p.Leu536Phe		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.L536F	ENST00000542403.2	37	c.1606	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628424	0.28978	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.09	4.16	0.48862	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	N	0.16368	0.405	0.19775	N	0.999956	D;D	0.76494	0.998;0.999	D;D	0.74023	0.961;0.982	T	0.56944	-0.7895	10	0.36615	T	0.2	.	12.6346	0.56677	0.3013:0.6987:0.0:0.0	.	536;536	Q9NQU5;G5E9R2	PAK6_HUMAN;.	F	536	ENSP00000406873:L536F;ENSP00000401153:L536F;ENSP00000409465:L536F;ENSP00000260404:L536F;ENSP00000439597:L536F	ENSP00000260404:L536F	L	+	1	0	PAK6	38352954	0.676000	0.27567	0.431000	0.26735	0.366000	0.29705	1.468000	0.35332	1.100000	0.41517	0.563000	0.77884	CTC	PAK6	-	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		0.602	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	C			40565662	1	no_errors	ENST00000260404	ensembl	human	known	70_37	missense	SNP	0.015	T	T	40565662	C	T	40565662	3	4	103	1	0	0	0	0	1	0	0	0	11428	681	24	4	1624	4	PAK6	15	40565662	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		40565662	61965730	206	15292										
SPTBN5	51332	genome.wustl.edu	37	chr15	42179421	42179421	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctcccccaccttagtgagtCtcctctggacagtctgcccc	7	18	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:42179421C>T	ENST00000320955.6	-	6	1105	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	293					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTAGTGAGTCTCCTCTGGAC	0.607																																																	0													27	34	32					15																	42179421		1727	3421	5148	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.878G>A	15.37:g.42179421C>T	ENSP00000317790:p.Arg293Lys			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R293K	ENST00000320955.6	37	c.878		15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943780	0.92593	.	.	ENSG00000137877	ENST00000320955	T	0.76709	-1.04	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000004	D	0.87521	0.6198	M	0.74881	2.28	0.30074	N	0.809814	D	0.89917	1.0	D	0.83275	0.996	D	0.85547	0.1219	10	0.56958	D	0.05	.	16.805	0.85625	0.0:1.0:0.0:0.0	.	293	Q9NRC6	SPTN5_HUMAN	K	293	ENSP00000317790:R293K	ENSP00000317790:R293K	R	-	2	0	SPTBN5	39966713	1.000000	0.71417	0.733000	0.30861	0.955000	0.61496	4.607000	0.61133	2.053000	0.61076	0.591000	0.81541	AGA	SPTBN5	-	NULL		0.607	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42179421	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42179421	C	T	42179421	3	4	103	1	0	0	0	0	1	0	0	0	15152	913	32	1	10398	1	SPTBN5	15	42179421	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1613759	42179421	60351971	207	15293										
CAPN3	825	genome.wustl.edu	37	chr15	42684915	42684915	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctactctgtcacggggctgGatgaggtaagcctggtgggg	17	9	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:42684915G>C	ENST00000397163.3	+	7	1243	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	CAPN3_ENST00000349748.3_Missense_Mutation_p.D294H|CAPN3_ENST00000318023.7_Missense_Mutation_p.D342H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D255H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.D342H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	342	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CACGGGGCTGGATGAGGTAAG	0.572																																																	0													75	59	65					15																	42684915		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1024G>C	15.37:g.42684915G>C	ENSP00000380349:p.Asp342His		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D342H	ENST00000397163.3	37	c.1024	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710869	0.89112	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.37	5.37	0.77165	Peptidase C2, calpain, catalytic domain (3);	0.343103	0.26366	U	0.024794	D	0.84902	0.5575	N	0.20357	0.565	0.47737	D	0.999506	P;P;B;B;B;P	0.40230	0.689;0.708;0.329;0.348;0.4;0.537	P;P;B;B;B;P	0.46825	0.455;0.489;0.259;0.286;0.409;0.528	D	0.86904	0.2056	10	0.87932	D	0	.	18.4966	0.90867	0.0:0.0:1.0:0.0	.	207;255;294;342;342;255	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	H	255;342;342;294;342	ENSP00000348667:D255H;ENSP00000380349:D342H;ENSP00000350181:D342H;ENSP00000183936:D294H;ENSP00000326281:D342H	ENSP00000326281:D342H	D	+	1	0	CAPN3	40472207	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.516000	0.67055	2.683000	0.91414	0.655000	0.94253	GAT	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	G			42684915	1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42684915	G	C	42684915	3	2	103	1	0	0	0	0	1	0	0	0	2633	1174	41	1	1102	1	CAPN3	15	42684915	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	505494	42684915	59846477	208	15294										
SHF	90525	genome.wustl.edu	37	chr15	45467558	45467558	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cgcggtggccccatcctcctCtggctcatagggtgtgtcat	12	14	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:45467558C>T	ENST00000560734.1	-	3	706	c.706G>A	c.(706-708)Gag>Aag	p.E236K	SHF_ENST00000560471.1_Missense_Mutation_p.E236K|SHF_ENST00000560540.1_Missense_Mutation_p.E236K|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000318390.6_Missense_Mutation_p.E228K|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000290894.8_Missense_Mutation_p.E171K|SHF_ENST00000458022.2_Missense_Mutation_p.E34K					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CCATCCTCCTCTGGCTCATAG	0.657																																																	0													34	30	31					15																	45467558		2195	4294	6489	SO:0001583	missense	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.706G>A	15.37:g.45467558C>T	ENSP00000453168:p.Glu236Lys			Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.E228K	ENST00000560734.1	37	c.682		15	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843032	0.51057	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.29397	1.57;1.57;1.57	5.25	5.25	0.73442	.	0.486255	0.22390	N	0.060684	T	0.24122	0.0584	L	0.43923	1.385	0.30166	N	0.801694	B;P;B;B;B	0.50943	0.43;0.94;0.142;0.059;0.013	B;B;B;B;B	0.40066	0.213;0.318;0.098;0.039;0.01	T	0.12319	-1.0552	10	0.20519	T	0.43	-11.6785	11.4461	0.50125	0.18:0.8199:0.0:0.0	.	34;171;161;228;171	Q8N9I8;E7EV73;E7EWB7;F8W6K9;Q7M4L6	.;.;.;.;SHF_HUMAN	K	171;171;228;34;161	ENSP00000290894:E171K;ENSP00000315978:E228K;ENSP00000411530:E34K	ENSP00000290894:E171K	E	-	1	0	SHF	43254850	0.589000	0.26807	1.000000	0.80357	0.930000	0.56654	1.995000	0.40767	2.446000	0.82766	0.491000	0.48974	GAG	SHF	-	NULL		0.657	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	SHF	HGNC	protein_coding	OTTHUMT00000416338.1	C	NM_138356		45467558	-1	no_errors	ENST00000318390	ensembl	human	known	70_37	missense	SNP	0.997	T	T	45467558	C	T	45467558	3	4	103	1	0	0	0	0	1	0	0	0	14307	922	32	1	780	1	SHF	15	45467558	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2782643	45467558	57063834	209	15295										
SLC27A2	11001	genome.wustl.edu	37	chr15	50521170	50521170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gggaaaatgtggccaccactGaagttgctgatacagttgga	13	7	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:50521170G>A	ENST00000267842.5	+	8	1718	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	SLC27A2_ENST00000544960.1_Missense_Mutation_p.E261K|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E443K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	496					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGCCACCACTGAAGTTGCTGA	0.463																																																	0													173	146	155					15																	50521170		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1486G>A	15.37:g.50521170G>A	ENSP00000267842:p.Glu496Lys		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E496K	ENST00000267842.5	37	c.1486	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.071090	0.93950	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.72394	-0.65;-0.65;-0.65	5.47	5.47	0.80525	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93629	0.6954	10	0.87932	D	0	.	16.8319	0.85946	0.0:0.0:1.0:0.0	.	443;496	Q6PF09;O14975	.;S27A2_HUMAN	K	443;496;261	ENSP00000370289:E443K;ENSP00000267842:E496K;ENSP00000444549:E261K	ENSP00000267842:E496K	E	+	1	0	SLC27A2	48308462	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	9.474000	0.97718	2.579000	0.87056	0.655000	0.94253	GAA	SLC27A2	-	pfam_AMP-dep_Synth/Lig		0.463	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	G	NM_003645		50521170	1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50521170	G	A	50521170	3	1	103	1	0	0	0	0	1	0	0	0	14556	1291	45	1	1516	1	SLC27A2	15	50521170	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	5053612	50521170	52010222	210	15296										
MYO5A	4644	genome.wustl.edu	37	chr15	52697558	52697558	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aaggatgccagcaagtattcGgaaaattcccatttgatgag	10	7	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:52697558G>A	ENST00000399231.3	-	9	1222	c.979C>T	c.(979-981)Cga>Tga	p.R327*	MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R327*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R327*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R327*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R327*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	327	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCAAGTATTCGGAAAATTCCC	0.378																																																	0													90	80	83					15																	52697558		1857	4100	5957	SO:0001587	stop_gained	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.979C>T	15.37:g.52697558G>A	ENSP00000382177:p.Arg327*		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R327*	ENST00000399231.3	37	c.979	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.249566	0.97412	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	.	.	.	5.73	5.73	0.89815	.	0.182257	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0328	0.71720	0.0:0.0:0.8578:0.1421	.	.	.	.	X	327	.	ENSP00000348693:R327X	R	-	1	2	MYO5A	50484850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.837000	0.55820	2.868000	0.98415	0.555000	0.69702	CGA	MYO5A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	G	NM_000259		52697558	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52697558	G	A	52697558	4	1	103	1	0	0	0	0	0	1	0	0	10101	1124	39	2	4720	2	MYO5A	15	52697558	Nonsense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2176388	52697558	49833834	211	15297										
FBXO22	26263	genome.wustl.edu	37	chr15	76209603	76209603	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gatcaggtagcaatcgacctCaggaaatagaaattggagaa	11	6	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:76209603C>T	ENST00000308275.3	+	5	601	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	FBXO22_ENST00000540507.1_Nonsense_Mutation_p.Q62*|FBXO22_ENST00000453211.2_Nonsense_Mutation_p.Q166*	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	166					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAATCGACCTCAGGAAATAGA	0.333																																																	0													76	81	79					15																	76209603		2197	4293	6490	SO:0001587	stop_gained	26263			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.496C>T	15.37:g.76209603C>T	ENSP00000307833:p.Gln166*		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Nonsense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.Q166*	ENST00000308275.3	37	c.496	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.455002	0.97581	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.61	5.61	0.85477	.	0.114571	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.9756	15.1415	0.72615	0.0:1.0:0.0:0.0	.	.	.	.	X	166;166;62	.	ENSP00000307833:Q166X	Q	+	1	0	FBXO22	73996658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.222000	0.51223	2.655000	0.90218	0.650000	0.86243	CAG	FBXO22	-	NULL		0.333	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	C	NM_147188		76209603	1	no_errors	ENST00000308275	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	76209603	C	T	76209603	4	4	103	1	0	0	0	0	0	1	0	0	5752	827	29	1	514	1	FBXO22	15	76209603	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	23512045	76209603	26321789	212	15298										
TMC3	342125	genome.wustl.edu	37	chr15	81635669	81635669	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agcacattctcagctattttGaattctccatattcaggcta	5	10	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:81635669G>A	ENST00000359440.5	-	15	1800	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.F556F	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGCTATTTTGAATTCTCCAT	0.348																																																	0													105	102	103					15																	81635669		1828	4088	5916	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1665C>T	15.37:g.81635669G>A				Silent	SNP	pfam_TMC	p.F555	ENST00000359440.5	37	c.1665	CCDS45324.1	15																																																																																			TMC3	-	pfam_TMC		0.348	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	G	NM_181841		81635669	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	silent	SNP	1.000	A	A	81635669	G	A	81635669	2	1	103	1	0	0	0	0	0	0	0	1	16016	1281	45	1		1	TMC3	15	81635669	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	5426066	81635669	20895723	213	15299										
SYNM	23336	genome.wustl.edu	37	chr15	99666966	99666966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agtaatccagagatagtgatCtgggctgagcacgttgaaaa	12	6	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:99666966C>T	ENST00000560674.1	+	3	586	c.117C>T	c.(115-117)atC>atT	p.I39I	SYNM_ENST00000336292.6_Silent_p.I324I|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.I324I			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	325	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGATAGTGATCTGGGCTGAGC	0.373																																					Pancreas(125;1071 1762 21750 40003 40381)												0													93	89	90					15																	99666966		1871	4092	5963	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.117C>T	15.37:g.99666966C>T			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	pfam_F	p.I324	ENST00000560674.1	37	c.972		15																																																																																			SYNM	-	NULL		0.373	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	C	NM_145728		99666966	1	no_errors	ENST00000336292	ensembl	human	known	70_37	silent	SNP	0.684	T	T	99666966	C	T	99666966	2	4	103	1	0	0	0	0	0	0	0	1	15485	903	32	1		1	SYNM	15	99666966	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	18031297	99666966	2864426	214	15300										
LRRK1	79705	genome.wustl.edu	37	chr15	101523744	101523744	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tttgaccagggccagcttctGagcatcccggcagcctatgg	12	13	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:101523744G>A	ENST00000388948.3	+	4	632	c.273G>A	c.(271-273)ctG>ctA	p.L91L	LRRK1_ENST00000284395.5_Silent_p.L64L|LRRK1_ENST00000532029.2_Silent_p.L91L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGCTTCTGAGCATCCCGG	0.582																																																	0													105	106	105					15																	101523744		1952	4139	6091	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.273G>A	15.37:g.101523744G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.L91	ENST00000388948.3	37	c.273	CCDS42086.1	15																																																																																			LRRK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.582	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	G	NM_024652		101523744	1	no_errors	ENST00000388948	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101523744	G	A	101523744	2	1	103	1	0	0	0	0	0	0	0	1	9055	1277	45	1		1	LRRK1	15	101523744	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1856778	101523744	1007648	215	15301										
OR4F4	26682	genome.wustl.edu	37	chr15	102462417	102462417	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtcttcatgtctttgttcctCagtgtgtatataattgggtt	9	6	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:102462417C>A	ENST00000326183.3	-	1	881	c.846G>T	c.(844-846)ctG>ctT	p.L282L		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTTTGTTCCTCAGTGTGTATA	0.368																																																	0													151	226	201					15																	102462417		2157	4297	6454	SO:0001819	synonymous_variant	26682				CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"GPCR / Class A : Olfactory receptors"	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.846G>T	15.37:g.102462417C>A			B2RNI5|Q6IFN9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L282	ENST00000326183.3	37	c.846	CCDS32343.1	15																																																																																			OR4F4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.368	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F4	HGNC	protein_coding	OTTHUMT00000417599.1	C	NM_001004195		102462417	-1	no_errors	ENST00000326183	ensembl	human	known	70_37	silent	SNP	0.984	A	A	102462417	C	A	102462417	2	1	103	1	0	0	0	0	0	0	0	1	11088	813	29	3		3	OR4F4	15	102462417	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	938673	102462417	68975	216	15302										
PKD1	5310	genome.wustl.edu	37	chr16	2143682	2143682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gctctctaccagggtgtcatCttcatccgggtgcagccgct	11	14	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:2143682C>G	ENST00000262304.4	-	37	11087	c.10879G>C	c.(10879-10881)Gat>Cat	p.D3627H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.D3626H|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3627					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGTGTCATCTTCATCCGGG	0.652																																																	0													28	29	29					16																	2143682		2190	4293	6483	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10879G>C	16.37:g.2143682C>G	ENSP00000262304:p.Asp3627His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.D3627H	ENST00000262304.4	37	c.10879	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515628	0.44763	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.39592	1.07;1.07	4.87	3.92	0.45320	.	0.144783	0.47852	D	0.000210	T	0.62011	0.2393	M	0.69823	2.125	0.35133	D	0.768118	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.969	T	0.74054	-0.3788	10	0.66056	D	0.02	.	13.2964	0.60298	0.0:0.9232:0.0:0.0768	.	3626;3627	P98161-3;P98161	.;PKD1_HUMAN	H	3627;3626;2961	ENSP00000262304:D3627H;ENSP00000399501:D3626H	ENSP00000262304:D3627H	D	-	1	0	PKD1	2083683	1.000000	0.71417	0.005000	0.12908	0.103000	0.19146	3.483000	0.53194	1.051000	0.40369	0.561000	0.74099	GAT	PKD1	-	NULL		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2143682	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.983	G	G	2143682	C	G	2143682	3	3	103	1	0	0	0	0	1	0	0	0	11987	913	32	1	2072	1	PKD1	16	2143682	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		2143682	88211071	217	15303										
ADCY9	115	genome.wustl.edu	37	chr16	4163953	4163953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctcctcatgcccaggatgccGcaaaggacggtgcccgtgtg	13	14	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:4163953G>A	ENST00000294016.3	-	2	2029	c.1491C>T	c.(1489-1491)tgC>tgT	p.C497C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	497	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGGATGCCGCAAAGGACGG	0.562																																																	0													122	126	125					16																	4163953		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1491C>T	16.37:g.4163953G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.C497	ENST00000294016.3	37	c.1491	CCDS32382.1	16																																																																																			ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	G			4163953	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	silent	SNP	0.993	A	A	4163953	G	A	4163953	2	1	103	1	0	0	0	0	0	0	0	1	301	1079	38	2		2	ADCY9	16	4163953	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2020271	4163953	86190800	218	15304										
DNAH3	55567	genome.wustl.edu	37	chr16	21071588	21071588	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccccggttcttgtttaccttGacatatgcttcaatcccaag	6	13	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:21071588G>C	ENST00000261383.3	-	26	3809	c.3810C>G	c.(3808-3810)gtC>gtG	p.V1270V	DNAH3_ENST00000415178.1_Silent_p.V1270V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1270	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTTTACCTTGACATATGCTT	0.502																																																	0													189	180	183					16																	21071588		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3810C>G	16.37:g.21071588G>C			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.V1270	ENST00000261383.3	37	c.3810	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21071588	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.001	C	C	21071588	G	C	21071588	2	2	103	1	0	0	0	0	0	0	0	1	4613	1277	45	1		1	DNAH3	16	21071588	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	16907635	21071588	69283165	219	15305										
EEF2K	29904	genome.wustl.edu	37	chr16	22260107	22260107	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcaccggggaatggctggatGatgaagttctgatcaagatg	14	6	3	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:22260107G>C	ENST00000263026.5	+	4	853	c.379G>C	c.(379-381)Gat>Cat	p.D127H		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	127	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATGGCTGGATGATGAAGTTCT	0.562																																					NSCLC(195;1411 2157 20319 27471 51856)												0													141	110	121					16																	22260107		2197	4300	6497	SO:0001583	missense	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.379G>C	16.37:g.22260107G>C	ENSP00000263026:p.Asp127His		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.D127H	ENST00000263026.5	37	c.379	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218880	0.58560	.	.	ENSG00000103319	ENST00000263026	T	0.06218	3.33	4.97	4.97	0.65823	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.17961	-1.0352	10	0.87932	D	0	-15.3899	18.5985	0.91239	0.0:0.0:1.0:0.0	.	127	O00418	EF2K_HUMAN	H	127	ENSP00000263026:D127H	ENSP00000263026:D127H	D	+	1	0	EEF2K	22167608	1.000000	0.71417	0.368000	0.25939	0.022000	0.10575	9.362000	0.97126	2.463000	0.83235	0.462000	0.41574	GAT	EEF2K	-	superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase		0.562	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	G	NM_013302		22260107	1	no_errors	ENST00000263026	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22260107	G	C	22260107	3	2	103	1	0	0	0	0	1	0	0	0	4940	1290	45	1	389	1	EEF2K	16	22260107	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1188519	22260107	68094646	220	15306										
SEZ6L2	26470	genome.wustl.edu	37	chr16	29906726	29906726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggggggccaggcctggggatCccccaccagccagcaccagg	16	16	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29906726C>T	ENST00000308713.5	-	5	1234	c.707G>A	c.(706-708)gGa>gAa	p.G236E	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G192E|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G166E|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	236	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G236A(1)|p.G166A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGGGGATCCCCCACCAGC	0.627																																																	2	Substitution - Missense(2)	lung(2)											41	50	47					16																	29906726		2197	4300	6497	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.707G>A	16.37:g.29906726C>T	ENSP00000312550:p.Gly236Glu		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G236E	ENST00000308713.5	37	c.707	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	c	14.49	2.549856	0.45383	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.37584	1.19;1.19;1.19	5.22	5.22	0.72569	CUB (5);	0.000000	0.48767	D	0.000179	T	0.53433	0.1796	M	0.62723	1.935	0.54753	D	0.999988	P;B;D;D;B	0.76494	0.799;0.186;0.999;0.997;0.154	P;B;D;D;B	0.66084	0.465;0.128;0.941;0.941;0.078	T	0.54275	-0.8318	10	0.56958	D	0.05	.	11.7866	0.52045	0.0:0.9146:0.0:0.0854	.	192;236;166;236;166	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	E	166;236;192	ENSP00000310206:G166E;ENSP00000312550:G236E;ENSP00000439412:G192E	ENSP00000312550:G236E	G	-	2	0	SEZ6L2	29814227	0.925000	0.31364	0.954000	0.39281	0.377000	0.30045	3.354000	0.52254	2.434000	0.82447	0.586000	0.80456	GGA	SEZ6L2	-	superfamily_CUB,smart_CUB,pfscan_CUB		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	C	NM_012410		29906726	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	missense	SNP	0.995	T	T	29906726	C	T	29906726	3	4	103	1	0	0	0	0	1	0	0	0	14174	855	30	1	2120	1	SEZ6L2	16	29906726	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	7646619	29906726	60448027	221	15307										
TAOK2	9344	genome.wustl.edu	37	chr16	29996797	29996797	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gctgcccaggccgaggagcgGaagttccagcagcacatcct	13	14	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29996797G>A	ENST00000308893.4	+	14	2729	c.1686G>A	c.(1684-1686)cgG>cgA	p.R562R	TAOK2_ENST00000543033.1_Silent_p.R562R|TAOK2_ENST00000416441.2_Silent_p.R389R|TAOK2_ENST00000279394.3_Silent_p.R562R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	562					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCGAGGAGCGGAAGTTCCAGC	0.637																																																	0													23	20	21					16																	29996797		2192	4299	6491	SO:0001819	synonymous_variant	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1686G>A	16.37:g.29996797G>A			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R562	ENST00000308893.4	37	c.1686	CCDS10663.1	16																																																																																			TAOK2	-	NULL		0.637	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29996797	1	no_errors	ENST00000308893	ensembl	human	known	70_37	silent	SNP	0.925	A	A	29996797	G	A	29996797	2	1	103	1	0	0	0	0	0	0	0	1	15578	1161	41	1		1	TAOK2	16	29996797	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	90071	29996797	60357956	222	15308										
TAOK2	9344	genome.wustl.edu	37	chr16	29997038	29997038	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gccgagtggctgctgcggcaGaaggagcagctccagcagtg	17	11	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29997038G>C	ENST00000308893.4	+	15	2891	c.1848G>C	c.(1846-1848)caG>caC	p.Q616H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q616H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q443H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q616H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	616					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGCTGCGGCAGAAGGAGCAGC	0.662																																																	0													13	15	14					16																	29997038		2191	4293	6484	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1848G>C	16.37:g.29997038G>C	ENSP00000310094:p.Gln616His		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.Q616H	ENST00000308893.4	37	c.1848	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943868	0.73672	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.37915	1.17;1.55;1.17	4.93	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.987;0.978;0.995	D;D;D;P;D	0.85130	0.986;0.997;0.917;0.828;0.931	T	0.46414	-0.9193	9	.	.	.	.	12.6129	0.56560	0.0834:0.0:0.9166:0.0	.	807;443;616;616;616	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	H	616	ENSP00000310094:Q616H;ENSP00000440336:Q616H;ENSP00000279394:Q616H	.	Q	+	3	2	TAOK2	29904539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.786000	0.75094	1.053000	0.40415	0.467000	0.42956	CAG	TAOK2	-	NULL		0.662	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29997038	1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29997038	G	C	29997038	3	2	103	1	0	0	0	0	1	0	0	0	15578	933	33	1	1902	1	TAOK2	16	29997038	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	241	29997038	60357715	223	15309										
TAOK2	9344	genome.wustl.edu	37	chr16	29998291	29998291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagcactgactcccgtccctGaggaggaggaagaagaggaa	14	10	0	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29998291G>C	ENST00000308893.4	+	16	3741	c.2698G>C	c.(2698-2700)Gag>Cag	p.E900Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.E787Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.E727Q|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	900	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCCCGTCCCTGAGGAGGAGGA	0.612																																																	0													65	71	69					16																	29998291		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2698G>C	16.37:g.29998291G>C	ENSP00000310094:p.Glu900Gln		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.E900Q	ENST00000308893.4	37	c.2698	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263294	0.39995	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73575	-0.67;-0.76	3.67	3.67	0.42095	.	1.416870	0.04175	N	0.325428	T	0.68732	0.3033	N	0.14661	0.345	0.26380	N	0.976753	P;P;P	0.45827	0.675;0.867;0.675	B;P;B	0.47645	0.122;0.553;0.122	T	0.63129	-0.6706	9	.	.	.	.	13.3246	0.60452	0.0:0.0:1.0:0.0	.	1091;727;900	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	Q	900;787	ENSP00000310094:E900Q;ENSP00000440336:E787Q	.	E	+	1	0	TAOK2	29905792	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	3.384000	0.52478	2.353000	0.79882	0.563000	0.77884	GAG	TAOK2	-	NULL		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29998291	1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	0.977	C	C	29998291	G	C	29998291	3	2	103	1	0	0	0	0	1	0	0	0	15578	1291	45	1	2756	1	TAOK2	16	29998291	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1253	29998291	60356462	224	15310										
BRD7	29117	genome.wustl.edu	37	chr16	50353805	50353805	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acagggcacgtaccttctgtCaaatccacaaagttgttttc	7	11	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:50353805C>G	ENST00000394688.3	-	16	2052	c.1893G>C	c.(1891-1893)ttG>ttC	p.L631F	BRD7_ENST00000394689.2_Missense_Mutation_p.L632F			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	631					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TACCTTCTGTCAAATCCACAA	0.473																																																	0													99	91	94					16																	50353805		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1893G>C	16.37:g.50353805C>G	ENSP00000378180:p.Leu631Phe		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L632F	ENST00000394688.3	37	c.1896	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781107	0.31502	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.47528	0.86;0.84	5.92	-0.795	0.10915	.	0.000000	0.64402	D	0.000001	T	0.61426	0.2346	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.60094	-0.7330	10	0.48119	T	0.1	-15.8305	12.1065	0.53816	0.0:0.5006:0.0:0.4994	.	631;632	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	F	631;632	ENSP00000378180:L631F;ENSP00000378181:L632F	ENSP00000378180:L631F	L	-	3	2	BRD7	48911306	0.871000	0.30034	0.988000	0.46212	0.396000	0.30629	-0.252000	0.08806	-0.166000	0.10890	-0.484000	0.04775	TTG	BRD7	-	NULL		0.473	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	C	NM_013263		50353805	-1	no_errors	ENST00000394689	ensembl	human	known	70_37	missense	SNP	0.996	G	G	50353805	C	G	50353805	3	3	103	1	0	0	0	0	1	0	0	0	1508	825	29	1	70	1	BRD7	16	50353805	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	20355514	50353805	40000948	225	15311										
HERPUD1	9709	genome.wustl.edu	37	chr16	56966192	56966192	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaacccgagcccgtcacgctCctggtgaagagccccaacca	10	17	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:56966192C>G	ENST00000439977.2	+	1	233	c.36C>G	c.(34-36)ctC>ctG	p.L12L	HERPUD1_ENST00000379792.2_Silent_p.L12L|HERPUD1_ENST00000300302.5_Silent_p.L12L|HERPUD1_ENST00000344114.4_Silent_p.L12L|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	12	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCGTCACGCTCCTGGTGAAGA	0.721			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	0													15	19	18					16																	56966192		2179	4272	6451	SO:0001819	synonymous_variant	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.36C>G	16.37:g.56966192C>G			E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L12	ENST00000439977.2	37	c.36	CCDS10771.1	16																																																																																			HERPUD1	-	smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.721	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	C			56966192	1	no_errors	ENST00000439977	ensembl	human	known	70_37	silent	SNP	0.083	G	G	56966192	C	G	56966192	2	3	103	1	0	0	0	0	0	0	0	1	7083	842	30	1		1	HERPUD1	16	56966192	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6612387	56966192	33388561	226	15312										
HERPUD1	9709	genome.wustl.edu	37	chr16	56966267	56966267	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggctggagtgtgggccacctCaaggcccacctgagccgcgt	15	14	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:56966267C>G	ENST00000439977.2	+	1	308	c.111C>G	c.(109-111)ctC>ctG	p.L37L	HERPUD1_ENST00000379792.2_Silent_p.L37L|HERPUD1_ENST00000300302.5_Silent_p.L37L|HERPUD1_ENST00000344114.4_Silent_p.L37L|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGGCCACCTCAAGGCCCACC	0.716			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	0													8	11	10					16																	56966267		2119	4172	6291	SO:0001819	synonymous_variant	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.111C>G	16.37:g.56966267C>G			E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L37	ENST00000439977.2	37	c.111	CCDS10771.1	16																																																																																			HERPUD1	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.716	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	C			56966267	1	no_errors	ENST00000439977	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56966267	C	G	56966267	2	3	103	1	0	0	0	0	0	0	0	1	7083	813	29	1		1	HERPUD1	16	56966267	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	75	56966267	33388486	227	15313										
GPR56	9289	genome.wustl.edu	37	chr16	57687930	57687930	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctggagtcgaaactgacctCtgtgagattcatgggggaca	13	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:57687930C>T	ENST00000388812.4	+	5	1093	c.653C>T	c.(652-654)tCt>tTt	p.S218F	GPR56_ENST00000379696.3_Missense_Mutation_p.S218F|GPR56_ENST00000388813.5_Missense_Mutation_p.S218F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.S218F|GPR56_ENST00000544297.1_Missense_Mutation_p.S43F|GPR56_ENST00000379694.4_Missense_Mutation_p.S48F|GPR56_ENST00000568908.1_Missense_Mutation_p.S218F|GPR56_ENST00000538815.1_Missense_Mutation_p.S218F|GPR56_ENST00000562631.1_Missense_Mutation_p.S218F|GPR56_ENST00000567835.1_Missense_Mutation_p.S218F|GPR56_ENST00000562558.1_Missense_Mutation_p.S218F|GPR56_ENST00000568909.1_Missense_Mutation_p.S218F|GPR56_ENST00000540164.2_Missense_Mutation_p.S218F			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	218					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AAACTGACCTCTGTGAGATTC	0.642																																																	0													84	87	86					16																	57687930		2198	4300	6498	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.653C>T	16.37:g.57687930C>T	ENSP00000373464:p.Ser218Phe		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like	p.S218F	ENST00000388812.4	37	c.653	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173573	0.21704	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;1.74;1.18;0.88	5.04	2.9	0.33743	.	0.828475	0.10548	N	0.661786	T	0.51787	0.1695	L	0.60455	1.87	0.09310	N	1	D;D;D;D;P	0.59767	0.986;0.976;0.964;0.976;0.593	P;P;P;P;B	0.56700	0.742;0.556;0.804;0.556;0.174	T	0.34976	-0.9807	10	0.66056	D	0.02	.	8.0111	0.30353	0.0:0.7257:0.1755:0.0988	.	43;223;218;218;48	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	F	218;218;218;218;218;43;48;218	ENSP00000373465:S218F;ENSP00000373464:S218F;ENSP00000444415:S218F;ENSP00000398034:S218F;ENSP00000444911:S218F;ENSP00000438006:S43F;ENSP00000369016:S48F;ENSP00000369018:S218F	ENSP00000369016:S48F	S	+	2	0	GPR56	56245431	0.235000	0.23794	0.006000	0.13384	0.001000	0.01503	1.408000	0.34668	1.106000	0.41623	-0.291000	0.09656	TCT	GPR56	-	NULL		0.642	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	C			57687930	1	no_errors	ENST00000379696	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57687930	C	T	57687930	3	4	103	1	0	0	0	0	1	0	0	0	6719	913	32	1	682	1	GPR56	16	57687930	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	721663	57687930	32666823	228	15314										
ZFHX3	463	genome.wustl.edu	37	chr16	72828478	72828478	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgcgctgggcctacagcccgGaactgtcctttcctttcccg	10	16	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:72828478G>A	ENST00000268489.5	-	9	8775	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.F1787F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2701					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTACAGCCCGGAACTGTCCTT	0.547																																																	0													99	96	97					16																	72828478		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8103C>T	16.37:g.72828478G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F2701	ENST00000268489.5	37	c.8103	CCDS10908.1	16																																																																																			ZFHX3	-	smart_Homeodomain		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72828478	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72828478	G	A	72828478	2	1	103	1	0	0	0	0	0	0	0	1	17664	1165	41	1		1	ZFHX3	16	72828478	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	15140548	72828478	17526275	229	15315										
PRPF8	10594	genome.wustl.edu	37	chr17	1556890	1556890	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttaagcacattcttgggaagGatgtaggtgtagccagtctc	12	7	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:1556890G>A	ENST00000572621.1	-	38	6580	c.6315C>T	c.(6313-6315)atC>atT	p.I2105I	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.I2105I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2105	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTGGGAAGGATGTAGGTGT	0.488																																																	0													167	140	149					17																	1556890		2203	4300	6503	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6315C>T	17.37:g.1556890G>A			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.I2105	ENST00000572621.1	37	c.6315	CCDS11010.1	17																																																																																			PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.488	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1556890	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1556890	G	A	1556890	2	1	103	1	0	0	0	0	0	0	0	1	12602	1164	41	1		1	PRPF8	17	1556890	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		1556890	79638320	230	15316										
PRPF8	10594	genome.wustl.edu	37	chr17	1557268	1557268	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gagatctccatacccaggatGatgtctcgaatttctgattg	9	9	3	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:1557268G>A	ENST00000572621.1	-	37	6295	c.6030C>T	c.(6028-6030)atC>atT	p.I2010I	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Silent_p.I2010I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2010	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TACCCAGGATGATGTCTCGAA	0.527																																																	0													306	250	269					17																	1557268		2203	4300	6503	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6030C>T	17.37:g.1557268G>A			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.I2010	ENST00000572621.1	37	c.6030	CCDS11010.1	17																																																																																			PRPF8	-	NULL		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1557268	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1557268	G	A	1557268	2	1	103	1	0	0	0	0	0	0	0	1	12602	1280	45	1		1	PRPF8	17	1557268	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	378	1557268	79637942	231	15317										
DNAH2	146754	genome.wustl.edu	37	chr17	7681472	7681472	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tacttgggtaactcgggccgGctcgtcatcacccccctgac	10	16	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:7681472G>T	ENST00000572933.1	+	34	6785	c.5325G>T	c.(5323-5325)cgG>cgT	p.R1775R	DNAH2_ENST00000389173.2_Silent_p.R1775R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1775	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTCGGGCCGGCTCGTCATCA	0.547																																																	0													69	67	68					17																	7681472		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5325G>T	17.37:g.7681472G>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R1775	ENST00000572933.1	37	c.5325	CCDS32551.1	17																																																																																			DNAH2	-	NULL		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7681472	1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7681472	G	T	7681472	2	4	103	1	0	0	0	0	0	0	0	1	4612	1190	42	4		4	DNAH2	17	7681472	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6124204	7681472	73513738	232	15318										
C17orf68	80169	genome.wustl.edu	37	chr17	8135226	8135226	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggagtcccagtttaccttctGatcattgtcgtcatttccct	7	12	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:8135226G>T	ENST00000315684.8	-	13	2387	c.2380C>A	c.(2380-2382)Cag>Aag	p.Q794K		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	794					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TTTACCTTCTGATCATTGTCG	0.602																																																	0													99	107	105					17																	8135226		1910	4128	6038	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2380C>A	17.37:g.8135226G>T	ENSP00000313759:p.Gln794Lys		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.Q794K	ENST00000315684.8	37	c.2380	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637421	0.29157	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82984	-1.67;-1.67	5.8	3.77	0.43336	.	0.428123	0.24996	N	0.033946	T	0.78362	0.4271	L	0.60455	1.87	0.25800	N	0.984515	B	0.11235	0.004	B	0.09377	0.004	T	0.68922	-0.5281	10	0.51188	T	0.08	-1.4314	9.4417	0.38673	0.0:0.1567:0.6803:0.163	.	794	Q2NKJ3	CTC1_HUMAN	K	794;759	ENSP00000313759:Q794K;ENSP00000396018:Q759K	ENSP00000313759:Q794K	Q	-	1	0	CTC1	8075951	0.896000	0.30565	0.624000	0.29186	0.974000	0.67602	1.590000	0.36654	0.766000	0.33244	-0.182000	0.12963	CAG	CTC1	-	NULL		0.602	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8135226	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	missense	SNP	0.617	T	T	8135226	G	T	8135226	3	4	103	1	0	0	0	0	1	0	0	0	1880	1299	45	3	1317	3	C17orf68	17	8135226	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	453754	8135226	73059984	233	15319										
MYH2	4620	genome.wustl.edu	37	chr17	10440596	10440596	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aagagctgagctagagttttCattgcagacttctggtacag	11	7	2	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:10440596C>T	ENST00000245503.5	-	16	2235	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M617I|MYH2_ENST00000532183.2_Missense_Mutation_p.M617I|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	617	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTAGAGTTTTCATTGCAGACT	0.438																																																	0													153	160	158					17																	10440596		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1851G>A	17.37:g.10440596C>T	ENSP00000245503:p.Met617Ile		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M617I	ENST00000245503.5	37	c.1851	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776944	0.31411	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87103	-2.21;-2.21;-2.21	5.53	4.5	0.54988	Myosin head, motor domain (2);	0.771594	0.10707	U	0.643349	T	0.77398	0.4124	N	0.13198	0.31	0.26612	N	0.972818	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.59445	-0.7453	10	0.17369	T	0.5	.	14.2612	0.66085	0.1493:0.8507:0.0:0.0	.	617;617	Q567P6;Q9UKX2	.;MYH2_HUMAN	I	617	ENSP00000433944:M617I;ENSP00000245503:M617I;ENSP00000380367:M617I	ENSP00000245503:M617I	M	-	3	0	MYH2	10381321	0.983000	0.35010	0.996000	0.52242	0.888000	0.51559	0.712000	0.25779	2.611000	0.88343	0.650000	0.86243	ATG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.438	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10440596	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	0.998	T	T	10440596	C	T	10440596	3	4	103	1	0	0	0	0	1	0	0	0	10058	826	29	1	4074	1	MYH2	17	10440596	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2305370	10440596	70754614	234	15320										
RASD1	51655	genome.wustl.edu	37	chr17	17399452	17399452	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tggccgggatactcagctccGagtcgctcgggcacatcttc	12	14	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:17399452G>C	ENST00000225688.3	-	1	255	c.44C>G	c.(43-45)tCg>tGg	p.S15W	RASD1_ENST00000579152.1_Missense_Mutation_p.S15W	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	15					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ACTCAGCTCCGAGTCGCTCGG	0.662																																																	0													58	53	54					17																	17399452		2203	4300	6503	SO:0001583	missense	51655			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.44C>G	17.37:g.17399452G>C	ENSP00000225688:p.Ser15Trp		B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S15W	ENST00000225688.3	37	c.44	CCDS11185.1	17	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892189	0.17613	.	.	ENSG00000108551	ENST00000225688	T	0.74002	-0.8	4.81	4.81	0.61882	.	0.237106	0.41605	D	0.000847	T	0.71031	0.3292	N	0.24115	0.695	0.49213	D	0.999765	D	0.60575	0.988	P	0.50708	0.648	T	0.76350	-0.2991	10	0.66056	D	0.02	.	16.8723	0.86043	0.0:0.0:1.0:0.0	.	15	Q9Y272	RASD1_HUMAN	W	15	ENSP00000225688:S15W	ENSP00000225688:S15W	S	-	2	0	RASD1	17340177	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	3.047000	0.49854	2.199000	0.70637	0.655000	0.94253	TCG	RASD1	-	NULL		0.662	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	HGNC	protein_coding	OTTHUMT00000131668.1	G	NM_016084		17399452	-1	no_errors	ENST00000225688	ensembl	human	known	70_37	missense	SNP	0.999	C	C	17399452	G	C	17399452	3	2	103	1	0	0	0	0	1	0	0	0	13096	1059	37	1	809	1	RASD1	17	17399452	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6958856	17399452	63795758	235	15321										
FLII	2314	genome.wustl.edu	37	chr17	18150641	18150641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtagtccaccgtcaacacatCgtcccaattcttgaacttgg	7	13	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:18150641C>T	ENST00000327031.4	-	21	2743	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	FLII_ENST00000379450.4_Missense_Mutation_p.D754N|FLII_ENST00000545457.2_Missense_Mutation_p.D785N|FLII_ENST00000579294.1_Missense_Mutation_p.D829N|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	840					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTCAACACATCGTCCCAATTC	0.577																																																	0													112	98	103					17																	18150641		2203	4300	6503	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2518G>A	17.37:g.18150641C>T	ENSP00000324573:p.Asp840Asn		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.D840N	ENST00000327031.4	37	c.2518	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116709	0.77323	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.14022	2.54;2.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.994;0.999;1.0	D;D;P;D;D	0.83275	0.996;0.996;0.795;0.975;0.99	T	0.06862	-1.0803	10	0.54805	T	0.06	-28.1043	19.1819	0.93627	0.0:1.0:0.0:0.0	.	754;754;719;840;809	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	N	840;719;754	ENSP00000324573:D840N;ENSP00000368763:D754N	ENSP00000324573:D840N	D	-	1	0	FLII	18091366	1.000000	0.71417	0.332000	0.25469	0.150000	0.21749	7.136000	0.77285	2.529000	0.85273	0.563000	0.77884	GAT	FLII	-	NULL		0.577	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	C	NM_002018		18150641	-1	no_errors	ENST00000327031	ensembl	human	known	70_37	missense	SNP	0.998	T	T	18150641	C	T	18150641	3	4	103	1	0	0	0	0	1	0	0	0	5943	884	31	1	1331	1	FLII	17	18150641	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	751189	18150641	63044569	236	15322										
KCNJ12	3768	genome.wustl.edu	37	chr17	21319480	21319480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccatcttgcatgagattgacGaggccagcccgctcttcggc	11	14	2	2	rs375466482		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:21319480G>A	ENST00000583088.1	+	3	1721	c.826G>A	c.(826-828)Gag>Aag	p.E276K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E276K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	276					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGAGATTGACGAGGCCAGCCC	0.597										Prostate(3;0.18)																																							0								G	LYS/GLU	0,4406		0,0,2203	109	87	94		826	5.6	1	17		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ12	NM_021012.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	276/434	21319480	1,13005	2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.826G>A	17.37:g.21319480G>A	ENSP00000463778:p.Glu276Lys		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.E276K	ENST00000583088.1	37	c.826	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810525	0.50421	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.92446	-3.04	5.58	5.58	0.84498	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.163425	0.53938	D	0.000059	D	0.89259	0.6664	L	0.44542	1.39	0.52501	D	0.999955	B	0.25235	0.121	B	0.15870	0.014	D	0.85108	0.0961	10	0.35671	T	0.21	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	276	Q14500	IRK12_HUMAN	K	276	ENSP00000328150:E276K	ENSP00000328150:E276K	E	+	1	0	KCNJ12	21260073	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.355000	0.73041	2.630000	0.89119	0.655000	0.94253	GAG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.597	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	G	NM_021012		21319480	1	no_errors	ENST00000331718	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21319480	G	A	21319480	3	1	103	1	0	0	0	0	1	0	0	0	8066	1059	37	1	828	1	KCNJ12	17	21319480	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3168839	21319480	59875730	237	15323										
SPAG5	10615	genome.wustl.edu	37	chr17	26905054	26905054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aatatgctgaacaatgtcatCtagtttttctaactccttgt	5	8	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26905054C>G	ENST00000321765.5	-	23	3816	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1162					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ACAATGTCATCTAGTTTTTCT	0.418																																																	0													118	113	115					17																	26905054		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3484G>C	17.37:g.26905054C>G	ENSP00000323300:p.Asp1162His		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.D1162H	ENST00000321765.5	37	c.3484	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	c	17.02	3.282789	0.59867	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.68100	0.2964	L	0.36672	1.1	0.39502	D	0.968212	D	0.89917	1.0	D	0.91635	0.999	T	0.71279	-0.4640	9	0.87932	D	0	-12.3888	15.4374	0.75157	0.0:1.0:0.0:0.0	.	1162	Q96R06	SPAG5_HUMAN	H	1162	.	ENSP00000323300:D1162H	D	-	1	0	SPAG5	23929181	0.994000	0.37717	0.999000	0.59377	0.981000	0.71138	3.751000	0.55165	2.721000	0.93114	0.651000	0.88453	GAT	SPAG5	-	NULL		0.418	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	C	NM_006461		26905054	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.998	G	G	26905054	C	G	26905054	3	3	103	1	0	0	0	0	1	0	0	0	15011	913	32	1	105	1	SPAG5	17	26905054	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	5585574	26905054	54290156	238	15324										
SPAG5	10615	genome.wustl.edu	37	chr17	26913181	26913181	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gcaaggatatcagctctttaGagataagcacccatgattgc	9	9	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26913181G>C	ENST00000321765.5	-	6	1864	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	511	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCTCTTTAGAGATAAGCAC	0.448																																																	0													59	57	58					17																	26913181		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1532C>G	17.37:g.26913181G>C	ENSP00000323300:p.Ser511Cys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S511C	ENST00000321765.5	37	c.1532	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302183	0.40694	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.62	3.59	0.41128	.	0.316889	0.27768	N	0.017933	T	0.47710	0.1460	L	0.34521	1.04	0.21105	N	0.999782	D	0.89917	1.0	D	0.68943	0.961	T	0.27905	-1.0060	9	0.59425	D	0.04	-0.0016	7.9582	0.30055	0.0859:0.1599:0.7541:0.0	.	511	Q96R06	SPAG5_HUMAN	C	511;8	.	ENSP00000323300:S511C	S	-	2	0	SPAG5	23937308	0.997000	0.39634	0.102000	0.21198	0.555000	0.35460	2.958000	0.49145	0.710000	0.31997	0.655000	0.94253	TCT	SPAG5	-	NULL		0.448	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26913181	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.346	C	C	26913181	G	C	26913181	3	2	103	1	0	0	0	0	1	0	0	0	15011	942	33	1	2125	1	SPAG5	17	26913181	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	8127	26913181	54282029	239	15325										
SPAG5	10615	genome.wustl.edu	37	chr17	26919090	26919090	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tactcttttcctgtggtgctGaaggagtaaaccaagtcccc	9	11	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26919090G>A	ENST00000321765.5	-	3	1504	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	391					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGTGGTGCTGAAGGAGTAAA	0.537																																																	0													156	146	150					17																	26919090		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1172C>T	17.37:g.26919090G>A	ENSP00000323300:p.Ser391Leu		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S391L	ENST00000321765.5	37	c.1172	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873220	0.33069	.	.	ENSG00000076382	ENST00000321765	T	0.43688	0.94	5.66	5.66	0.87406	.	0.101653	0.44483	D	0.000459	T	0.26919	0.0659	N	0.08118	0	0.27554	N	0.950411	B	0.26547	0.152	B	0.26416	0.069	T	0.26503	-1.0101	10	0.54805	T	0.06	-4.6886	15.2618	0.73628	0.0:0.0:1.0:0.0	.	391	Q96R06	SPAG5_HUMAN	L	391	ENSP00000323300:S391L	ENSP00000323300:S391L	S	-	2	0	SPAG5	23943217	0.994000	0.37717	0.540000	0.28089	0.027000	0.11550	1.856000	0.39389	2.671000	0.90904	0.655000	0.94253	TCA	SPAG5	-	NULL		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26919090	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.979	A	A	26919090	G	A	26919090	3	1	103	1	0	0	0	0	1	0	0	0	15011	1294	45	1	2497	1	SPAG5	17	26919090	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	5909	26919090	54276120	240	15326										
SPAG5	10615	genome.wustl.edu	37	chr17	26919933	26919933	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctcagacgttttaggagtaGagctaatttggggaattgga	13	5	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26919933G>C	ENST00000321765.5	-	3	661	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	110					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTTAGGAGTAGAGCTAATTTG	0.443																																																	0													170	167	168					17																	26919933		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.329C>G	17.37:g.26919933G>C	ENSP00000323300:p.Ser110Cys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S110C	ENST00000321765.5	37	c.329	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384470	0.11524	.	.	ENSG00000076382	ENST00000321765	T	0.26518	1.73	6.03	5.04	0.67666	.	0.114155	0.40385	N	0.001107	T	0.46908	0.1417	M	0.69823	2.125	0.35738	D	0.818472	D	0.89917	1.0	D	0.70935	0.971	T	0.60880	-0.7175	10	0.87932	D	0	-3.0842	9.8883	0.41274	0.0989:0.0:0.9011:0.0	.	110	Q96R06	SPAG5_HUMAN	C	110	ENSP00000323300:S110C	ENSP00000323300:S110C	S	-	2	0	SPAG5	23944060	1.000000	0.71417	0.924000	0.36721	0.226000	0.24999	1.460000	0.35244	1.469000	0.48083	0.655000	0.94253	TCT	SPAG5	-	NULL		0.443	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26919933	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.999	C	C	26919933	G	C	26919933	3	2	103	1	0	0	0	0	1	0	0	0	15011	942	33	1	3340	1	SPAG5	17	26919933	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	843	26919933	54275277	241	15327										
LRRC37B	114659	genome.wustl.edu	37	chr17	30354813	30354813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcagtgaaaattatttgactGaattacctaaggattcattt	6	5	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:30354813G>A	ENST00000341671.7	+	3	1782	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	LRRC37B_ENST00000584368.1_Missense_Mutation_p.E605K|LRRC37B_ENST00000327564.7_Missense_Mutation_p.E620K|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E593K|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E511K|LRRC37B_ENST00000581786.1_3'UTR	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	593						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTATTTGACTGAATTACCTAA	0.294																																																	0													57	58	57					17																	30354813		2195	4291	6486	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1777G>A	17.37:g.30354813G>A	ENSP00000340519:p.Glu593Lys		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E593K	ENST00000341671.7	37	c.1777	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	12.25	1.880854	0.33255	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	1.99	1.99	0.26369	.	.	.	.	.	T	0.59972	0.2233	L	0.43152	1.355	0.22305	N	0.99921	D;D	0.76494	0.999;0.98	D;P	0.71870	0.975;0.855	T	0.43766	-0.9371	9	0.72032	D	0.01	.	7.5514	0.27800	0.0:0.0:1.0:0.0	.	593;593	Q17RC9;Q96QE4	.;LR37B_HUMAN	K	511;620;593;593	ENSP00000443345:E511K;ENSP00000332536:E620K;ENSP00000378202:E593K;ENSP00000340519:E593K	ENSP00000332536:E620K	E	+	1	0	LRRC37B	27378926	0.888000	0.30383	0.924000	0.36721	0.278000	0.26855	1.224000	0.32539	1.435000	0.47434	0.291000	0.19559	GAA	LRRC37B	-	smart_Leu-rich_rpt_typical-subtyp		0.294	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	G	NM_052888		30354813	1	no_errors	ENST00000341671	ensembl	human	known	70_37	missense	SNP	0.962	A	A	30354813	G	A	30354813	3	1	103	1	0	0	0	0	1	0	0	0	9017	1291	45	1	1787	1	LRRC37B	17	30354813	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3434880	30354813	50840397	242	15328										
UNC45B	146862	genome.wustl.edu	37	chr17	33476026	33476026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggcagcttcagatgcctccaGaggtgagcccctcccacctc	10	17	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:33476026G>C	ENST00000268876.5	+	3	300	c.203G>C	c.(202-204)aGa>aCa	p.R68T	UNC45B_ENST00000591048.1_Missense_Mutation_p.R68T|UNC45B_ENST00000378449.1_Missense_Mutation_p.R68T|UNC45B_ENST00000394570.2_Missense_Mutation_p.R68T|UNC45B_ENST00000433649.1_Missense_Mutation_p.R68T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	68					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATGCCTCCAGAGGTGAGCCC	0.537																																																	0													132	112	119					17																	33476026		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.203G>C	17.37:g.33476026G>C	ENSP00000268876:p.Arg68Thr		Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R68T	ENST00000268876.5	37	c.203	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364235	0.41902	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.59	0.412	0.16397	Tetratricopeptide repeat-containing (1);	0.305893	0.39146	N	0.001460	T	0.30727	0.0774	N	0.11154	0.105	0.38373	D	0.944915	B;B;B	0.28584	0.216;0.001;0.001	B;B;B	0.26517	0.07;0.006;0.009	T	0.06144	-1.0843	10	0.46703	T	0.11	-0.1358	5.3958	0.16268	0.3129:0.151:0.5361:0.0	.	68;68;68	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	T	68	ENSP00000378071:R68T;ENSP00000268876:R68T;ENSP00000412840:R68T;ENSP00000367710:R68T	ENSP00000268876:R68T	R	+	2	0	UNC45B	30500139	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.868000	0.48436	0.191000	0.20236	0.561000	0.74099	AGA	UNC45B	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.537	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	G	NM_173167		33476026	1	no_errors	ENST00000268876	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33476026	G	C	33476026	3	2	103	1	0	0	0	0	1	0	0	0	17020	942	33	1	209	1	UNC45B	17	33476026	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	3121213	33476026	47719184	243	15329										
GAS2L2	246176	genome.wustl.edu	37	chr17	34072333	34072333	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tggcagacacagtagaagccGagcagtcctgccctccctga	11	14	0	3	rs140261341		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:34072333G>C	ENST00000254466.6	-	6	2210	c.2183C>G	c.(2182-2184)tCg>tGg	p.S728W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S712W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	728					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTAGAAGCCGAGCAGTCCTG	0.617																																																	0													96	101	99					17																	34072333		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2183C>G	17.37:g.34072333G>C	ENSP00000254466:p.Ser728Trp		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S728W	ENST00000254466.6	37	c.2183	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409663	0.25465	.	.	ENSG00000132139	ENST00000254466	T	0.21543	2.0	4.11	0.764	0.18465	.	0.743050	0.11584	N	0.549465	T	0.19127	0.0459	L	0.27053	0.805	0.39494	D	0.968095	D	0.61697	0.99	P	0.54431	0.752	T	0.36962	-0.9726	10	0.87932	D	0	-5.6549	1.2792	0.02037	0.204:0.1681:0.4554:0.1725	.	728	Q8NHY3	GA2L2_HUMAN	W	728	ENSP00000254466:S728W	ENSP00000254466:S728W	S	-	2	0	GAS2L2	31096446	0.086000	0.21541	0.896000	0.35187	0.278000	0.26855	0.935000	0.28924	0.523000	0.28482	-0.657000	0.03884	TCG	GAS2L2	-	NULL		0.617	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34072333	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	missense	SNP	0.641	C	C	34072333	G	C	34072333	3	2	103	1	0	0	0	0	1	0	0	0	6266	1059	37	1	463	1	GAS2L2	17	34072333	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	596307	34072333	47122877	244	15330										
ACACA	31	genome.wustl.edu	37	chr17	35453990	35453990	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	catggcttgaatctggccatCagtcagctcagggttggcat	12	10	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:35453990C>G	ENST00000394406.2	-	54	6911	c.6721G>C	c.(6721-6723)Gat>Cat	p.D2241H	ACACA_ENST00000361253.5_Missense_Mutation_p.D367H|ACACA_ENST00000353139.5_Missense_Mutation_p.D2278H|ACACA_ENST00000335166.5_Missense_Mutation_p.D2163H|ACACA_ENST00000360679.3_Missense_Mutation_p.D2183H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2241					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTGGCCATCAGTCAGCTCA	0.507																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													193	167	176					17																	35453990		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6721G>C	17.37:g.35453990C>G	ENSP00000377928:p.Asp2241His		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.D2278H	ENST00000394406.2	37	c.6832	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805504	0.31961	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.04994	-0.135	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.007;0.004;0.0;0.0	B;B;B;B;B	0.17098	0.003;0.011;0.017;0.003;0.007	T	0.13415	-1.0510	10	0.13108	T	0.6	-19.4033	20.2033	0.98269	0.0:1.0:0.0:0.0	.	279;940;2278;2241;2183	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	H	2278;2183;2241;2265;2163;940;367	ENSP00000344789:D2278H;ENSP00000353898:D2183H;ENSP00000377928:D2241H;ENSP00000335323:D2163H;ENSP00000354565:D367H	ENSP00000335323:D2163H	D	-	1	0	ACACA	32528103	1.000000	0.71417	0.057000	0.19452	0.923000	0.55619	6.087000	0.71362	2.779000	0.95612	0.655000	0.94253	GAT	ACACA	-	NULL		0.507	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	C	NM_198836		35453990	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	0.001	G	G	35453990	C	G	35453990	3	3	103	1	0	0	0	0	1	0	0	0	106	826	29	1	331	1	ACACA	17	35453990	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1381657	35453990	45741220	245	15331										
KRT38	8687	genome.wustl.edu	37	chr17	39597089	39597089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccaggctggcacccaatgtCgatgggagagacagagacat	13	11	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39597089C>T	ENST00000246646.3	-	1	84	c.85G>A	c.(85-87)Gac>Aac	p.D29N		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	29	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CACCCAATGTCGATGGGAGAG	0.602																																																	0													54	57	56					17																	39597089		2203	4300	6503	SO:0001583	missense	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.85G>A	17.37:g.39597089C>T	ENSP00000246646:p.Asp29Asn		A2RRM5|Q6A164	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.D29N	ENST00000246646.3	37	c.85	CCDS11392.1	17	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334553	0.24253	.	.	ENSG00000171360	ENST00000246646	D	0.82081	-1.57	4.6	1.43	0.22495	.	0.404228	0.20550	N	0.090132	T	0.67230	0.2871	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.46261	-0.9204	10	0.19147	T	0.46	.	3.4811	0.07602	0.1783:0.5167:0.0:0.3049	.	29	O76015	KRT38_HUMAN	N	29	ENSP00000246646:D29N	ENSP00000246646:D29N	D	-	1	0	KRT38	36850615	0.001000	0.12720	0.005000	0.12908	0.012000	0.07955	0.632000	0.24583	0.551000	0.29008	0.650000	0.86243	GAC	KRT38	-	NULL		0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT38	HGNC	protein_coding	OTTHUMT00000257307.2	C	NM_006771		39597089	-1	no_errors	ENST00000246646	ensembl	human	known	70_37	missense	SNP	0.001	T	T	39597089	C	T	39597089	3	4	103	1	0	0	0	0	1	0	0	0	8495	884	31	1	1313	1	KRT38	17	39597089	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	4143099	39597089	41598121	246	15332										
HAP1	9001	genome.wustl.edu	37	chr17	39884506	39884506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggcctgcagccgagcgacctCctgctgctgccgttcatagt	12	15	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39884506C>T	ENST00000310778.5	-	7	1156	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	HAP1_ENST00000341193.5_Missense_Mutation_p.E391K|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.E383K|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.E383K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	383	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGCGACCTCCTGCTGCTGC	0.652																																																	0													47	42	43					17																	39884506		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1147G>A	17.37:g.39884506C>T	ENSP00000309392:p.Glu383Lys		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E383K	ENST00000310778.5	37	c.1147		17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962054	0.74016	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.14	4.14	0.48551	.	0.000000	0.42548	D	0.000696	T	0.50650	0.1628	M	0.81497	2.545	0.50171	D	0.999856	D;D;D;D	0.71674	0.996;0.998;0.975;0.98	D;D;P;D	0.78314	0.987;0.991;0.882;0.928	T	0.56183	-0.8021	10	0.72032	D	0.01	-26.3165	11.9683	0.53049	0.0:1.0:0.0:0.0	.	383;391;383;383	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	383;383;383;391	ENSP00000377513:E383K;ENSP00000309392:E383K;ENSP00000334002:E383K;ENSP00000343170:E391K	ENSP00000309392:E383K	E	-	1	0	HAP1	37138032	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.682000	0.61671	2.183000	0.69458	0.549000	0.68633	GAG	HAP1	-	pfam_HAP1_N		0.652	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39884506	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39884506	C	T	39884506	3	4	103	1	0	0	0	0	1	0	0	0	6973	864	30	1	732	1	HAP1	17	39884506	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	287417	39884506	41310704	247	15333										
LRRC37A2	474170	genome.wustl.edu	37	chr17	44632680	44632680	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcctcatttggacagccgctCtggtttaaagatatgtacaa	8	9	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:44632680C>G	ENST00000576629.1	+	14	5439	c.4944C>G	c.(4942-4944)ctC>ctG	p.L1648L	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Silent_p.L1648L			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1648						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GACAGCCGCTCTGGTTTAAAG	0.418																																																	0													96	157	136					17																	44632680		2051	4144	6195	SO:0001819	synonymous_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4944C>G	17.37:g.44632680C>G			B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1648	ENST00000576629.1	37	c.4944	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL		0.418	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	C	NM_001006607		44632680	1	no_errors	ENST00000333412	ensembl	human	known	70_37	silent	SNP	0.000	G	G	44632680	C	G	44632680	2	3	103	1	0	0	0	0	0	0	0	1	9015	900	32	1		1	LRRC37A2	17	44632680	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	4748174	44632680	36562530	248	15334										
HOXB6	3216	genome.wustl.edu	37	chr17	46674028	46674028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gccggccgctgggcccaaagGaggaacctgttacgcagagt	15	12	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:46674028G>A	ENST00000484302.2	-	3	1044	c.422C>T	c.(421-423)tCc>tTc	p.S141F	HOXB6_ENST00000225648.3_Missense_Mutation_p.S141F|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P17509	HXB6_HUMAN	homeobox B6	141					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GGGCCCAAAGGAGGAACCTGT	0.637																																																	0													47	47	47					17																	46674028		2203	4300	6503	SO:0001583	missense	3216				CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"Homeoboxes / ANTP class : HOXL subclass"	5117	protein-coding gene	gene with protein product		142961	"homeo box B6"	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.422C>T	17.37:g.46674028G>A	ENSP00000420009:p.Ser141Phe		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S141F	ENST00000484302.2	37	c.422	CCDS11531.1	17	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756248	0.49362	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.95853	-3.83;-3.83	4.67	4.67	0.58626	Homeodomain-related (1);Homeodomain-like (1);	0.207592	0.41823	N	0.000820	D	0.89921	0.6855	L	0.36672	1.1	0.40300	D	0.978598	B	0.32731	0.382	B	0.28709	0.093	D	0.86860	0.2029	10	0.10902	T	0.67	.	10.9698	0.47432	0.0871:0.0:0.9129:0.0	.	141	P17509	HXB6_HUMAN	F	141	ENSP00000420009:S141F;ENSP00000225648:S141F	ENSP00000225648:S141F	S	-	2	0	HOXB6	44029027	0.881000	0.30235	1.000000	0.80357	0.997000	0.91878	1.511000	0.35801	2.437000	0.82529	0.563000	0.77884	TCC	HOXB6	-	superfamily_Homeodomain-like		0.637	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB6	HGNC	protein_coding	OTTHUMT00000358146.2	G			46674028	-1	no_errors	ENST00000225648	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46674028	G	A	46674028	3	1	103	1	0	0	0	0	1	0	0	0	7325	1174	41	1	256	1	HOXB6	17	46674028	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2041348	46674028	34521182	249	15335										
ABCC3	8714	genome.wustl.edu	37	chr17	48738374	48738374	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aggccccggaagccctccttCctgaaggccctgctggccac	11	18	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:48738374C>G	ENST00000285238.8	+	8	977	c.897C>G	c.(895-897)ttC>ttG	p.F299L	ABCC3_ENST00000427699.1_Missense_Mutation_p.F299L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	299					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGCCCTCCTTCCTGAAGGCCC	0.622																																																	0													47	41	43					17																	48738374		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.897C>G	17.37:g.48738374C>G	ENSP00000285238:p.Phe299Leu		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.F299L	ENST00000285238.8	37	c.897	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	3.917	-0.018952	0.07681	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.85955	-1.8;-2.05	5.18	0.368	0.16146	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	N	0.11313	0.125	0.54753	D	0.999985	P;B	0.45044	0.849;0.006	B;B	0.43082	0.407;0.01	T	0.66720	-0.5852	10	0.02654	T	1	-13.5874	10.5613	0.45146	0.0:0.5889:0.0:0.4111	.	299;299	O15438;O15438-5	MRP3_HUMAN;.	L	299	ENSP00000395160:F299L;ENSP00000285238:F299L	ENSP00000285238:F299L	F	+	3	2	ABCC3	46093373	0.964000	0.33143	0.695000	0.30226	0.040000	0.13550	0.161000	0.16481	0.195000	0.20347	0.491000	0.48974	TTC	ABCC3	-	superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48738374	1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	0.998	G	G	48738374	C	G	48738374	3	3	103	1	0	0	0	0	1	0	0	0	54	854	30	1	927	1	ABCC3	17	48738374	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2064346	48738374	32456836	250	15336										
ABCC3	8714	genome.wustl.edu	37	chr17	48738473	48738473	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttcatcaatccacagctgctCaggtctctccacactccggc	6	17	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:48738473C>G	ENST00000285238.8	+	8	1076	c.996C>G	c.(994-996)ctC>ctG	p.L332L	ABCC3_ENST00000427699.1_Silent_p.L332L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	332	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CACAGCTGCTCAGGTCTCTCC	0.587																																																	0													66	56	60					17																	48738473		2203	4300	6503	SO:0001819	synonymous_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.996C>G	17.37:g.48738473C>G			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	NULL	p.Q351E	ENST00000285238.8	37	c.1051	CCDS32681.1	17																																																																																			ABCC3	-	NULL		0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48738473	1	no_errors	ENST00000502426	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48738473	C	G	48738473	2	3	103	1	0	0	0	0	0	0	0	1	54	813	29	1		1	ABCC3	17	48738473	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	99	48738473	32456737	251	15337										
ABCC3	8714	genome.wustl.edu	37	chr17	48745145	48745145	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cttggcacagggctgggtccCtgcctccagggctctgggtg	16	13	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:48745145C>T	ENST00000285238.8	+	12	1715				ABCC3_ENST00000427699.1_Silent_p.P554P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGCTGGGTCCCTGCCTCCAGG	0.657																																																	0													45	44	44					17																	48745145		2203	4300	6503	SO:0001627	intron_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1635+27C>T	17.37:g.48745145C>T			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	p.P554	ENST00000285238.8	37	c.1662	CCDS32681.1	17																																																																																			ABCC3	-	NULL		0.657	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48745145	1	no_errors	ENST00000427699	ensembl	human	known	70_37	silent	SNP	0.000	T	T	48745145	C	T	48745145	1	4	103	0	1	0	0	0	0	0	0	0	54	668	24	4		4	ABCC3	17	48745145	Intron	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6672	48745145	32450065	252	15338										
COIL	8161	genome.wustl.edu	37	chr17	55027619	55027619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tccggggtgctcgatgacatCaagcattggtcgtctgactc	12	11	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:55027619C>G	ENST00000240316.4	-	2	1018	c.984G>C	c.(982-984)ttG>ttC	p.L328F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	328						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TCGATGACATCAAGCATTGGT	0.522																																																	0													87	83	85					17																	55027619		2203	4300	6503	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.984G>C	17.37:g.55027619C>G	ENSP00000240316:p.Leu328Phe		B2R931	Missense_Mutation	SNP	NULL	p.L328F	ENST00000240316.4	37	c.984	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758043	0.31137	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.2	-2.06	0.07298	.	2.731780	0.00799	N	0.001415	T	0.22085	0.0532	N	0.19112	0.55	0.09310	N	1	B	0.29508	0.246	B	0.29524	0.103	T	0.10706	-1.0618	9	0.49607	T	0.09	8.7078	1.6914	0.02853	0.1166:0.3822:0.2276:0.2736	.	328	P38432	COIL_HUMAN	F	328	.	ENSP00000240316:L328F	L	-	3	2	COIL	52382618	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.795000	0.04580	-0.430000	0.07318	0.502000	0.49764	TTG	COIL	-	NULL		0.522	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	C			55027619	-1	no_errors	ENST00000240316	ensembl	human	known	70_37	missense	SNP	0.000	G	G	55027619	C	G	55027619	3	3	103	1	0	0	0	0	1	0	0	0	3670	825	29	1	770	1	COIL	17	55027619	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6282474	55027619	26167591	253	15339										
COIL	8161	genome.wustl.edu	37	chr17	55028230	55028230	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cttctttgaatatttgcaatCtggttcagtttcttcaccct	5	10	5	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:55028230C>G	ENST00000240316.4	-	2	407	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	125						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TATTTGCAATCTGGTTCAGTT	0.383																																																	0													127	128	127					17																	55028230		2203	4300	6503	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.373G>C	17.37:g.55028230C>G	ENSP00000240316:p.Asp125His		B2R931	Missense_Mutation	SNP	NULL	p.D125H	ENST00000240316.4	37	c.373	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008193	0.35415	.	.	ENSG00000121058	ENST00000240316	T	0.43688	0.94	5.84	4.68	0.58851	.	0.850210	0.10769	N	0.636283	T	0.44117	0.1278	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	P	0.54100	0.742	T	0.32719	-0.9896	10	0.46703	T	0.11	-0.0856	13.7987	0.63186	0.0:0.9158:0.0:0.0842	.	125	P38432	COIL_HUMAN	H	125	ENSP00000240316:D125H	ENSP00000240316:D125H	D	-	1	0	COIL	52383229	0.001000	0.12720	0.007000	0.13788	0.183000	0.23260	1.248000	0.32827	2.748000	0.94277	0.650000	0.86243	GAT	COIL	-	NULL		0.383	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	C			55028230	-1	no_errors	ENST00000240316	ensembl	human	known	70_37	missense	SNP	0.002	G	G	55028230	C	G	55028230	3	3	103	1	0	0	0	0	1	0	0	0	3670	913	32	1	1381	1	COIL	17	55028230	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	611	55028230	26166980	254	15340										
INTS2	57508	genome.wustl.edu	37	chr17	59968993	59968993	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tatgtacacatcaatcaaagGaagtaattgaggatgaagtg	10	4	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:59968993G>C	ENST00000444766.3	-	14	1855	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	INTS2_ENST00000251334.6_Missense_Mutation_p.P586A	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	594					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCAATCAAAGGAAGTAATTGA	0.363																																																	0													107	103	105					17																	59968993		1867	4101	5968	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1780C>G	17.37:g.59968993G>C	ENSP00000414237:p.Pro594Ala		Q9ULD3	Missense_Mutation	SNP	NULL	p.P594A	ENST00000444766.3	37	c.1780	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	8.864	0.947624	0.18356	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.38240	1.15	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	N	0.17594	0.5	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.34477	-0.9827	9	.	.	.	-17.3812	18.3294	0.90263	0.0:0.0:1.0:0.0	.	594	Q9H0H0	INT2_HUMAN	A	594;593	ENSP00000414237:P594A	.	P	-	1	0	INTS2	57323775	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.069000	0.93967	2.631000	0.89168	0.655000	0.94253	CCT	INTS2	-	NULL		0.363	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	G	NM_020748		59968993	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59968993	G	C	59968993	3	2	103	1	0	0	0	0	1	0	0	0	7798	1174	41	1	1882	1	INTS2	17	59968993	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4940763	59968993	21226217	255	15341										
TANC2	26115	genome.wustl.edu	37	chr17	61278190	61278190	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctgactagcagcactgcctCtccaccagccagtagcccct	7	18	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:61278190C>G	ENST00000424789.2	+	5	423	c.419C>G	c.(418-420)tCt>tGt	p.S140C	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S140C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	140					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCACTGCCTCTCCACCAGCC	0.498																																																	0													146	150	149					17																	61278190		1999	4177	6176	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.419C>G	17.37:g.61278190C>G	ENSP00000387593:p.Ser140Cys		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S140C	ENST00000424789.2	37	c.419	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963494	0.92791	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.47177	0.85;0.85	5.75	5.75	0.90469	.	.	.	.	.	T	0.63534	0.2519	M	0.68593	2.085	0.58432	D	0.999999	P;P	0.43578	0.811;0.528	P;B	0.52217	0.693;0.243	T	0.64748	-0.6334	9	0.87932	D	0	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	140;140	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	140	ENSP00000374171:S140C;ENSP00000387593:S140C	ENSP00000374171:S140C	S	+	2	0	TANC2	58631922	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.717000	0.92951	0.585000	0.79938	TCT	TANC2	-	NULL		0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	C			61278190	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61278190	C	G	61278190	3	3	103	1	0	0	0	0	1	0	0	0	15575	913	32	1	437	1	TANC2	17	61278190	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1309197	61278190	19917020	256	15342										
APOH	350	genome.wustl.edu	37	chr17	64216821	64216821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atggcttataaacacgaagtGttgcaaacgtaggtatggat	11	5	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:64216821G>A	ENST00000205948.6	-	5	492	c.455C>T	c.(454-456)aCa>aTa	p.T152I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	152	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AACACGAAGTGTTGCAAACGT	0.383																																					Melanoma(155;624 1882 16869 48804 51309)												0													110	107	108					17																	64216821		2203	4300	6503	SO:0001583	missense	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.455C>T	17.37:g.64216821G>A	ENSP00000205948:p.Thr152Ile		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T152I	ENST00000205948.6	37	c.455	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	g	5.303	0.241294	0.10077	.	.	ENSG00000091583	ENST00000205948	T	0.65549	-0.16	5.42	-10.8	0.00216	Complement control module (2);Sushi/SCR/CCP (3);	1.511200	0.03459	N	0.211988	T	0.35770	0.0943	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.09684	-1.0663	10	0.20519	T	0.43	.	2.6375	0.04962	0.2546:0.0773:0.1609:0.5072	.	152	P02749	APOH_HUMAN	I	152	ENSP00000205948:T152I	ENSP00000205948:T152I	T	-	2	0	APOH	61647283	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-2.074000	0.01375	-2.082000	0.00868	0.563000	0.77884	ACA	APOH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	G	NM_000042		64216821	-1	no_errors	ENST00000205948	ensembl	human	known	70_37	missense	SNP	0.000	A	A	64216821	G	A	64216821	3	1	103	1	0	0	0	0	1	0	0	0	804	1377	48	4	598	4	APOH	17	64216821	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2938631	64216821	16978389	257	15343										
SLC26A11	284129	genome.wustl.edu	37	chr17	78222034	78222034	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctgctcatgctcctgcactCtgcagccaggcctgagacca	9	16	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:78222034C>G	ENST00000361193.3	+	14	1680	c.1400C>G	c.(1399-1401)tCt>tGt	p.S467C	SLC26A11_ENST00000546047.2_Missense_Mutation_p.S467C|SLC26A11_ENST00000572725.1_Missense_Mutation_p.S467C|SLC26A11_ENST00000411502.3_Missense_Mutation_p.S467C	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTCCTGCACTCTGCAGCCAGG	0.637																																																	0													42	36	38					17																	78222034		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1400C>G	17.37:g.78222034C>G	ENSP00000355384:p.Ser467Cys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S467C	ENST00000361193.3	37	c.1400	CCDS11771.2	17	.	.	.	.	.	.	.	.	.	.	C	5.909	0.351824	0.11182	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93604	-3.25;-3.25;-3.25	4.97	1.4	0.22301	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.807050	0.11776	N	0.530658	D	0.90055	0.6894	L	0.42245	1.32	0.09310	N	1	D	0.55385	0.971	P	0.46049	0.502	T	0.81355	-0.0970	10	0.49607	T	0.09	-13.8303	7.7777	0.29048	0.2984:0.6138:0.0:0.0877	.	467	Q86WA9	S2611_HUMAN	C	467	ENSP00000403998:S467C;ENSP00000440724:S467C;ENSP00000355384:S467C	ENSP00000355384:S467C	S	+	2	0	SLC26A11	75836629	0.000000	0.05858	0.340000	0.25575	0.006000	0.05464	0.242000	0.18087	0.494000	0.27859	-0.293000	0.09583	TCT	SLC26A11	-	superfamily_STAS_dom		0.637	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000257281.1	C			78222034	1	no_errors	ENST00000361193	ensembl	human	known	70_37	missense	SNP	0.014	G	G	78222034	C	G	78222034	3	3	103	1	0	0	0	0	1	0	0	0	14546	913	32	1	1446	1	SLC26A11	17	78222034	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	14005213	78222034	2973176	258	15344										
ARHGDIA	396	genome.wustl.edu	37	chr17	79827732	79827732	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgggccgggggcttgtagttGaccgagtgctcatcctcctc	14	12	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:79827732G>C	ENST00000269321.7	-	2	210	c.75C>G	c.(73-75)gtC>gtG	p.V25V	ARHGDIA_ENST00000400721.4_Silent_p.V25V|ARHGDIA_ENST00000541078.2_Silent_p.V25V|ARHGDIA_ENST00000584461.1_Silent_p.V25V|ARHGDIA_ENST00000581876.1_Silent_p.V25V|RP11-498C9.3_ENST00000576021.1_RNA|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Silent_p.V25V	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	25					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCTTGTAGTTGACCGAGTGCT	0.632																																																	0													94	75	81					17																	79827732		2203	4300	6503	SO:0001819	synonymous_variant	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.75C>G	17.37:g.79827732G>C			A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.V25	ENST00000269321.7	37	c.75	CCDS11788.1	17																																																																																			ARHGDIA	-	pfam_Rho_GDI,superfamily_Ig_E-set		0.632	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIA	HGNC	protein_coding	OTTHUMT00000441679.2	G	NM_004309		79827732	-1	no_errors	ENST00000269321	ensembl	human	known	70_37	silent	SNP	0.996	C	C	79827732	G	C	79827732	2	2	103	1	0	0	0	0	0	0	0	1	890	1277	45	1		1	ARHGDIA	17	79827732	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1605698	79827732	1367478	259	15345										
MYOM1	8736	genome.wustl.edu	37	chr18	3215001	3215001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagagctcagggcgtgctgcGaggcctgctgctgggaggag	19	10	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:3215001G>A	ENST00000356443.4	-	2	554	c.221C>T	c.(220-222)tCg>tTg	p.S74L	MYOM1_ENST00000261606.7_Missense_Mutation_p.S74L|MYOM1_ENST00000400569.3_Missense_Mutation_p.S74L|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	74					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGTGCTGCGAGGCCTGCTG	0.682																																																	0													27	31	30					18																	3215001		2063	4206	6269	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.221C>T	18.37:g.3215001G>A	ENSP00000348821:p.Ser74Leu		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S74L	ENST00000356443.4	37	c.221	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	G	7.637	0.680120	0.14907	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.54479	0.73;0.73;0.57	4.67	1.76	0.24704	.	0.585017	0.16736	N	0.201624	T	0.33644	0.0870	N	0.24115	0.695	0.09310	N	1	B;B	0.26975	0.165;0.003	B;B	0.22152	0.038;0.001	T	0.23154	-1.0196	10	0.87932	D	0	.	6.0517	0.19789	0.0925:0.0:0.3801:0.5273	.	74;74	P52179-2;P52179	.;MYOM1_HUMAN	L	74	ENSP00000348821:S74L;ENSP00000383413:S74L;ENSP00000261606:S74L	ENSP00000261606:S74L	S	-	2	0	MYOM1	3205001	0.858000	0.29795	0.000000	0.03702	0.005000	0.04900	3.104000	0.50306	0.148000	0.19059	0.655000	0.94253	TCG	MYOM1	-	NULL		0.682	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	G	NM_003803		3215001	-1	no_errors	ENST00000356443	ensembl	human	known	70_37	missense	SNP	0.000	A	A	3215001	G	A	3215001	3	1	103	1	0	0	0	0	1	0	0	0	10114	1059	37	1	4984	1	MYOM1	18	3215001	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		3215001	74862247	260	15346										
EPB41L3	23136	genome.wustl.edu	37	chr18	5416294	5416294	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagtcattctccttacacctCctacggagctctgtgggaga	9	13	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:5416294C>T	ENST00000341928.2	-	13	1930	c.1590G>A	c.(1588-1590)agG>agA	p.R530R	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Silent_p.R530R|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	530	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTTACACCTCCTACGGAGCT	0.587																																																	0													62	63	63					18																	5416294		2203	4300	6503	SO:0001819	synonymous_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1590G>A	18.37:g.5416294C>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.R530	ENST00000341928.2	37	c.1590	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein		0.587	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	C	NM_012307		5416294	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5416294	C	T	5416294	2	4	103	1	0	0	0	0	0	0	0	1	5166	854	30	1		1	EPB41L3	18	5416294	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2201293	5416294	72660954	261	15347										
C18orf45	85019	genome.wustl.edu	37	chr18	20878009	20878009	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgagaaaaccagcaaggcctCtccaagcgcaccgagcagga	11	13	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:20878009C>G	ENST00000383233.3	-	15	905	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	285						integral component of membrane (GO:0016021)											AGCAAGGCCTCTCCAAGCGCA	0.592																																																	0													75	80	78					18																	20878009		1997	4165	6162	SO:0001583	missense	85019			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.853G>C	18.37:g.20878009C>G	ENSP00000372720:p.Glu285Gln		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.E285Q	ENST00000383233.3	37	c.853	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917269	0.73098	.	.	ENSG00000134490	ENST00000383233	T	0.69040	-0.37	5.24	4.36	0.52297	.	.	.	.	.	T	0.66944	0.2841	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	T	0.70396	-0.4883	9	0.72032	D	0.01	-9.3486	11.099	0.48163	0.1844:0.8156:0.0:0.0	.	285	Q24JQ0	CR045_HUMAN	Q	285	ENSP00000372720:E285Q	ENSP00000372720:E285Q	E	-	1	0	C18orf45	19132007	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.678000	0.54627	1.412000	0.46977	0.655000	0.94253	GAG	TMEM241	-	NULL		0.592	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	C	NM_032933		20878009	-1	no_errors	ENST00000383233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20878009	C	G	20878009	3	3	103	1	0	0	0	0	1	0	0	0	1908	922	32	1	41	1	C18orf45	18	20878009	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	15461715	20878009	57199239	262	15348										
ZNF521	25925	genome.wustl.edu	37	chr18	22902062	22902062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtcacagctgtgcacagcttCgtcttccaactcctccccgt	7	17	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:22902062C>T	ENST00000361524.3	-	3	278	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.E44K|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	44					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCACAGCTTCGTCTTCCAAC	0.453			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													151	139	143					18																	22902062		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.130G>A	18.37:g.22902062C>T	ENSP00000354794:p.Glu44Lys		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E44K	ENST00000361524.3	37	c.130	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673062	0.67928	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.06	5.91	5.91	0.95273	.	0.330064	0.27720	N	0.018138	T	0.07143	0.0181	N	0.24115	0.695	0.80722	D	1	P	0.43352	0.804	B	0.22601	0.04	T	0.30208	-0.9986	10	0.42905	T	0.14	-16.0028	18.4701	0.90771	0.0:1.0:0.0:0.0	.	44	Q96K83	ZN521_HUMAN	K	44;78;44	ENSP00000354794:E44K;ENSP00000382352:E44K	ENSP00000354794:E44K	E	-	1	0	ZNF521	21156060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.232000	0.78116	2.794000	0.96219	0.655000	0.94253	GAA	ZNF521	-	NULL		0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22902062	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22902062	C	T	22902062	3	4	103	1	0	0	0	0	1	0	0	0	17995	893	31	1	3829	1	ZNF521	18	22902062	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2024053	22902062	55175186	263	15349										
DSG1	1828	genome.wustl.edu	37	chr18	28926069	28926069	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	caggaatgcctgagatatgtCaagaatactctggaacatta	9	7	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:28926069C>G	ENST00000257192.4	+	14	2220	c.2008C>G	c.(2008-2010)Caa>Gaa	p.Q670E	DSG1_ENST00000462981.2_Missense_Mutation_p.Q29E|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	670					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAGATATGTCAAGAATACTC	0.408																																																	0													100	101	100					18																	28926069		2203	4300	6503	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2008C>G	18.37:g.28926069C>G	ENSP00000257192:p.Gln670Glu		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin	p.Q670E	ENST00000257192.4	37	c.2008	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672593	0.29693	.	.	ENSG00000134760	ENST00000257192	T	0.75821	-0.97	6.02	5.08	0.68730	Cadherin, cytoplasmic domain (1);	0.635481	0.15775	N	0.245260	T	0.54806	0.1881	N	0.14661	0.345	0.26024	N	0.981838	P	0.36282	0.546	B	0.39027	0.288	T	0.49380	-0.8946	10	0.02654	T	1	.	10.6778	0.45796	0.1434:0.7154:0.1412:0.0	.	670	Q02413	DSG1_HUMAN	E	670	ENSP00000257192:Q670E	ENSP00000257192:Q670E	Q	+	1	0	DSG1	27180067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.155000	0.42301	2.865000	0.98341	0.655000	0.94253	CAA	DSG1	-	pfam_Cadherin_cytoplasmic-dom		0.408	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	C	NM_001942		28926069	1	no_errors	ENST00000257192	ensembl	human	known	70_37	missense	SNP	0.999	G	G	28926069	C	G	28926069	3	3	103	1	0	0	0	0	1	0	0	0	4786	827	29	1	2062	1	DSG1	18	28926069	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	6024007	28926069	49151179	264	15350										
ALPK2	115701	genome.wustl.edu	37	chr18	56203437	56203437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gctgaaaccccgggaagaaaGacttctccaatgtacactga	9	11	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:56203437G>C	ENST00000361673.3	-	5	4195	c.3982C>G	c.(3982-3984)Ctt>Gtt	p.L1328V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1328						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGGGAAGAAAGACTTCTCCAA	0.517																																																	0													92	88	89					18																	56203437		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3982C>G	18.37:g.56203437G>C	ENSP00000354991:p.Leu1328Val		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L1328V	ENST00000361673.3	37	c.3982	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586633	0.46110	.	.	ENSG00000198796	ENST00000361673	T	0.48836	0.8	5.63	2.65	0.31530	.	2.593500	0.01088	N	0.005120	T	0.50343	0.1610	L	0.52573	1.65	0.09310	N	1	P;P	0.50156	0.932;0.91	P;B	0.50659	0.647;0.388	T	0.34153	-0.9840	10	0.11485	T	0.65	-2.6539	5.7209	0.17986	0.0898:0.0:0.5627:0.3475	.	1323;1328	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	V	1328	ENSP00000354991:L1328V	ENSP00000354991:L1328V	L	-	1	0	ALPK2	54354417	0.003000	0.15002	0.001000	0.08648	0.017000	0.09413	1.238000	0.32707	0.700000	0.31782	0.457000	0.33378	CTT	ALPK2	-	NULL		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56203437	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.000	C	C	56203437	G	C	56203437	3	2	103	1	0	0	0	0	1	0	0	0	545	942	33	1	2566	1	ALPK2	18	56203437	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	27277368	56203437	21873811	265	15351										
HCN2	610	genome.wustl.edu	37	chr19	608051	608051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggtacggccggcaggcgcccGagagcatgacggacatctgg	17	12	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:608051G>A	ENST00000251287.2	+	4	1359	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	436					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGCGCCCGAGAGCATGAC	0.607																																					Melanoma(145;1175 2427 8056 36306)												0													79	63	68					19																	608051		2203	4300	6503	SO:0001583	missense	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1306G>A	19.37:g.608051G>A	ENSP00000251287:p.Glu436Lys		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.E436K	ENST00000251287.2	37	c.1306	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504178	0.26949	.	.	ENSG00000099822	ENST00000251287	D	0.98381	-4.9	3.13	3.13	0.36017	Ion transport (1);	.	.	.	.	D	0.95887	0.8661	L	0.57536	1.79	0.58432	D	0.999999	B	0.14805	0.011	B	0.17433	0.018	D	0.92647	0.6129	9	0.06365	T	0.9	.	13.7103	0.62665	0.0:0.0:1.0:0.0	.	436	Q9UL51	HCN2_HUMAN	K	436	ENSP00000251287:E436K	ENSP00000251287:E436K	E	+	1	0	HCN2	559051	1.000000	0.71417	0.825000	0.32803	0.738000	0.42128	5.333000	0.65917	1.723000	0.51488	0.505000	0.49811	GAG	HCN2	-	pfam_Ion_trans_dom		0.607	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194		608051	1	no_errors	ENST00000251287	ensembl	human	known	70_37	missense	SNP	1.000	A	A	608051	G	A	608051	3	1	103	1	0	0	0	0	1	0	0	0	7017	1059	37	1	1320	1	HCN2	19	608051	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		608051	58520932	266	15352										
SBNO2	22904	genome.wustl.edu	37	chr19	1127732	1127732	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acggacgaggagaagatggaGatgttggagaagtcctcaaa	15	5	1	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:1127732G>C	ENST00000361757.3	-	5	549	c.312C>G	c.(310-312)atC>atG	p.I104M	SBNO2_ENST00000587024.1_Missense_Mutation_p.I104M|SBNO2_ENST00000438103.2_Missense_Mutation_p.I47M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	104					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGATGGAGATGTTGGAGA	0.617																																																	0													103	113	110					19																	1127732		2122	4236	6358	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.312C>G	19.37:g.1127732G>C	ENSP00000354733:p.Ile104Met		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.I104M	ENST00000361757.3	37	c.312	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	G	5.612	0.297631	0.10622	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.46	-0.195	0.13236	.	2.956140	0.01864	N	0.036816	T	0.17662	0.0424	N	0.22421	0.69	0.22571	N	0.99898	P;P;B;B	0.35542	0.508;0.508;0.16;0.247	B;B;B;B	0.28139	0.06;0.086;0.037;0.082	T	0.11842	-1.0571	9	0.46703	T	0.11	.	1.8289	0.03126	0.1908:0.1583:0.4887:0.1623	.	47;104;104;47	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	M	104;47;61	.	ENSP00000250872:I61M	I	-	3	3	SBNO2	1078732	1.000000	0.71417	0.289000	0.24876	0.145000	0.21501	3.435000	0.52849	-0.050000	0.13356	0.491000	0.48974	ATC	SBNO2	-	NULL		0.617	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	G	NM_014963		1127732	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	0.954	C	C	1127732	G	C	1127732	3	2	103	1	0	0	0	0	1	0	0	0	13893	932	33	1	3900	1	SBNO2	19	1127732	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	519681	1127732	58001251	267	15353										
STK11	6794	genome.wustl.edu	37	chr19	1220443	1220443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgtgcacaaggacatcaagcCggggaacctgctgctcacca	11	13	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:1220443C>A	ENST00000326873.7	+	4	1709	c.536C>A	c.(535-537)cCg>cAg	p.P179Q		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.P179L(1)|p.K178fs*86(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCAAGCCGGGGAACCTG	0.662		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	30	Whole gene deletion(20)|Deletion - Frameshift(5)|Unknown(4)|Substitution - Missense(1)	cervix(15)|lung(10)|oesophagus(1)|ovary(1)|prostate(1)|kidney(1)|pancreas(1)											44	52	49					19																	1220443		2095	4239	6334	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.536C>A	19.37:g.1220443C>A	ENSP00000324856:p.Pro179Gln		B2RBX7|E7EW76	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.P179Q	ENST00000326873.7	37	c.536	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699891	0.68501	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90069	-2.61	5.6	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98018	1.0369	10	0.87932	D	0	-24.0845	13.8611	0.63561	0.0:0.9262:0.0:0.0738	.	179	Q15831	STK11_HUMAN	Q	179	ENSP00000324856:P179Q	ENSP00000324856:P179Q	P	+	2	0	STK11	1171443	1.000000	0.71417	0.880000	0.34516	0.282000	0.26991	7.712000	0.84684	1.375000	0.46248	0.561000	0.74099	CCG	STK11	-	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		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	C	NM_000455		1220443	1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	0.998	A	A	1220443	C	A	1220443	3	1	103	1	0	0	0	0	1	0	0	0	15317	652	23	2	550	2	STK11	19	1220443	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	92711	1220443	57908540	268	15354										
GNA15	2769	genome.wustl.edu	37	chr19	3162874	3162874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccgggtgcgtggacggccccGagggcagcaagaagggcgca	19	12	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:3162874G>A	ENST00000262958.3	+	7	1240	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	328					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E328K(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGACGGCCCCGAGGGCAGCAA	0.602											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											105	83	90					19																	3162874		2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.982G>A	19.37:g.3162874G>A	ENSP00000262958:p.Glu328Lys	609	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.E328K	ENST00000262958.3	37	c.982	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353545	0.24512	.	.	ENSG00000060558	ENST00000262958	D	0.82893	-1.66	3.99	2.93	0.34026	.	0.650143	0.12782	N	0.439624	T	0.59742	0.2216	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54873	-0.8228	10	0.72032	D	0.01	.	7.6143	0.28148	0.1427:0.0:0.8573:0.0	.	328	P30679	GNA15_HUMAN	K	328	ENSP00000262958:E328K	ENSP00000262958:E328K	E	+	1	0	GNA15	3113874	0.122000	0.22280	0.001000	0.08648	0.005000	0.04900	2.716000	0.47219	0.785000	0.33685	0.561000	0.74099	GAG	GNA15	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.602	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	G	NM_002068		3162874	1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.015	A	A	3162874	G	A	3162874	3	1	103	1	0	0	0	0	1	0	0	0	6522	1059	37	1	1008	1	GNA15	19	3162874	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1942431	3162874	55966109	269	15355										
PTPRS	5802	genome.wustl.edu	37	chr19	5274291	5274291	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcacccgtggcctgacacacGaaagaggccacaccccccga	9	18	1	2	rs371714657		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:5274291G>A	ENST00000587303.1	-	2	255	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PTPRS_ENST00000588012.1_Silent_p.F52F|PTPRS_ENST00000372412.4_Silent_p.F52F|PTPRS_ENST00000353284.2_Silent_p.F52F|PTPRS_ENST00000592099.1_Silent_p.F52F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.F52F|PTPRS_ENST00000348075.2_Silent_p.F52F|PTPRS_ENST00000590509.1_Silent_p.F52F|PTPRS_ENST00000357368.4_Silent_p.F52F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	52	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCTGACACACGAAAGAGGCCA	0.597																																																	0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	55	55	55		156,156,156,156	-0.2	1	19		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	52/1949,52/1502,52/1911,52/1506	5274291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.156C>T	19.37:g.5274291G>A			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.F52	ENST00000587303.1	37	c.156	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	G			5274291	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	0.998	A	A	5274291	G	A	5274291	2	1	103	1	0	0	0	0	0	0	0	1	12841	1049	37	1		1	PTPRS	19	5274291	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2111417	5274291	53854692	270	15356										
ZNRF4	148066	genome.wustl.edu	37	chr19	5456144	5456144	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gccatcccctcagtgttcgtGagcgaggccgcctcgcagga	13	15	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:5456144G>T	ENST00000222033.4	+	1	719	c.642G>T	c.(640-642)gtG>gtT	p.V214V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	214	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGTTCGTGAGCGAGGCCG	0.672																																																	0													62	64	63					19																	5456144		2173	4263	6436	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.642G>T	19.37:g.5456144G>T			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V214	ENST00000222033.4	37	c.642	CCDS42475.1	19																																																																																			ZNRF4	-	pfam_Protease-assoc_domain		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	G	NM_181710		5456144	1	no_errors	ENST00000222033	ensembl	human	known	70_37	silent	SNP	0.037	T	T	5456144	G	T	5456144	2	4	103	1	0	0	0	0	0	0	0	1	18244	1277	45	3		3	ZNRF4	19	5456144	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	181853	5456144	53672839	271	15357										
QTRT1	81890	genome.wustl.edu	37	chr19	10823475	10823475	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccactgggaacctgcagttGaggaagaaggtgtttgagaa	14	7	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:10823475G>A	ENST00000250237.5	+	8	913	c.903G>A	c.(901-903)ttG>ttA	p.L301L		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	301					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACCTGCAGTTGAGGAAGAAGG	0.632																																																	0													123	112	116					19																	10823475		2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.903G>A	19.37:g.10823475G>A			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans	p.L301	ENST00000250237.5	37	c.903	CCDS12248.1	19																																																																																			QTRT1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans		0.632	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QTRT1	HGNC	protein_coding	OTTHUMT00000452086.1	G	NM_031209		10823475	1	no_errors	ENST00000250237	ensembl	human	known	70_37	silent	SNP	0.998	A	A	10823475	G	A	10823475	2	1	103	1	0	0	0	0	0	0	0	1	12915	1281	45	1		1	QTRT1	19	10823475	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	5367331	10823475	48305508	272	15358										
DPY19L3	147991	genome.wustl.edu	37	chr19	32973040	32973040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaaacctgcagaccaccctcGcttctgtgaagagatcaaaa	8	12	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:32973040G>A	ENST00000342179.5	+	19	2260	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R682H|DPY19L3_ENST00000586987.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	682						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GACCACCCTCGCTTCTGTGAA	0.453																																																	0													160	161	161					19																	32973040		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.2045G>A	19.37:g.32973040G>A	ENSP00000344937:p.Arg682His		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.R682H	ENST00000342179.5	37	c.2045	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.754533	0.96890	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.57436	0.4;0.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77542	-0.2549	10	0.72032	D	0.01	-14.1406	20.3495	0.98807	0.0:0.0:1.0:0.0	.	682	Q6ZPD9	D19L3_HUMAN	H	682	ENSP00000376081:R682H;ENSP00000344937:R682H	ENSP00000344937:R682H	R	+	2	0	DPY19L3	37664880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.591000	0.98241	2.814000	0.96858	0.591000	0.81541	CGC	DPY19L3	-	pfam_Dpy-19		0.453	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	G	NM_207325		32973040	1	no_errors	ENST00000342179	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32973040	G	A	32973040	3	1	103	1	0	0	0	0	1	0	0	0	4752	1087	38	2	2115	2	DPY19L3	19	32973040	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	22149565	32973040	26155943	273	15359										
UPK1A	11045	genome.wustl.edu	37	chr19	36164426	36164426	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggccaggagctgacccgcctCtgggaccgcgtcatgattga	14	13	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:36164426C>G	ENST00000222275.2	+	4	447	c.447C>G	c.(445-447)ctC>ctG	p.L149L	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.L149L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	149					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACCCGCCTCTGGGACCGCG	0.647																																																	0													24	26	26					19																	36164426		2190	4282	6472	SO:0001819	synonymous_variant	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.447C>G	19.37:g.36164426C>G			Q3KNU5|Q3KNU6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L149	ENST00000222275.2	37	c.447	CCDS12470.1	19																																																																																			UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.647	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	C			36164426	1	no_errors	ENST00000379013	ensembl	human	known	70_37	silent	SNP	0.996	G	G	36164426	C	G	36164426	2	3	103	1	0	0	0	0	0	0	0	1	17038	900	32	1		1	UPK1A	19	36164426	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	3191386	36164426	22964557	274	15360										
ZNF404	342908	genome.wustl.edu	37	chr19	44378083	44378083	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctctgttgtctcccaaattCaattgtgtactgtgggtcag	9	9	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:44378083C>T	ENST00000587539.1	-	3	282	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E93K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	95					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.E93K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTCCCAAATTCAATTGTGTAC	0.338																																																	1	Substitution - Missense(1)	lung(1)											129	135	134					19																	44378083		1841	4081	5922	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.283G>A	19.37:g.44378083C>T	ENSP00000466051:p.Glu95Lys		A4FU30|K7ELF2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E95K	ENST00000587539.1	37	c.283	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.034878	0.00406	.	.	ENSG00000176222	ENST00000324394	T	0.06449	3.3	3.11	-5.33	0.02713	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44574	-0.9319	9	0.05525	T	0.97	.	2.095	0.03666	0.1267:0.1465:0.2514:0.4754	.	95	Q494X3	ZN404_HUMAN	K	93	ENSP00000319479:E93K	ENSP00000319479:E93K	E	-	1	0	ZNF404	49069923	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.561000	0.02158	-0.966000	0.03587	-0.714000	0.03626	GAA	ZNF404	-	NULL		0.338	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	C	NM_001033719		44378083	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	0.001	T	T	44378083	C	T	44378083	3	4	103	1	0	0	0	0	1	0	0	0	17916	835	29	1	1379	1	ZNF404	19	44378083	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	8213657	44378083	14750900	275	15361										
ZNF155	7711	genome.wustl.edu	37	chr19	44500376	44500376	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	actctatcataaataactctCagttctttgaaaatggtgat	5	7	4	2	rs138952990		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:44500376C>T	ENST00000270014.2	+	5	495	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	ZNF155_ENST00000590615.1_Nonsense_Mutation_p.Q123*|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.Q134*	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	123					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AAATAACTCTCAGTTCTTTGA	0.463																																					NSCLC(61;554 1277 20909 42067 42312)												0								C	stop/GLN,stop/GLN	2,4404	4.2+/-10.8	0,2,2201	80	79	79		367,367	-0.6	0	19	dbSNP_134	79	0,8600		0,0,4300	yes	stop-gained,stop-gained	ZNF155	NM_003445.2,NM_198089.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	123/539,123/539	44500376	2,13004	2203	4300	6503	SO:0001587	stop_gained	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.367C>T	19.37:g.44500376C>T	ENSP00000270014:p.Gln123*		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q123*	ENST00000270014.2	37	c.367	CCDS12634.1	19	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478985	0.44044	4.54E-4	0.0	ENSG00000204920	ENST00000407951;ENST00000270014	.	.	.	1.95	-0.577	0.11727	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.2591	0.10732	0.2218:0.63:0.0:0.1482	.	.	.	.	X	134;123	.	ENSP00000270014:Q123X	Q	+	1	0	ZNF155	49192216	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.705000	0.05052	-0.050000	0.13356	-0.535000	0.04281	CAG	ZNF155	-	NULL		0.463	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	HGNC	protein_coding	OTTHUMT00000460074.1	C	NM_003445		44500376	1	no_errors	ENST00000270014	ensembl	human	known	70_37	nonsense	SNP	0.011	T	T	44500376	C	T	44500376	4	4	103	1	0	0	0	0	0	1	0	0	17766	827	29	1	381	1	ZNF155	19	44500376	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	122293	44500376	14628607	276	15362										
GIPR	2696	genome.wustl.edu	37	chr19	46174547	46174547	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccgtgcccacccccaggcctCgcctgtaacgggtccttcga	10	19	0	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:46174547C>T	ENST00000590918.1	+	4	276	c.177C>T	c.(175-177)ctC>ctT	p.L59L	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Silent_p.L59L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667																																																	0													103	83	90					19																	46174547		2203	4300	6503	SO:0001819	synonymous_variant	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.177C>T	19.37:g.46174547C>T			B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L59	ENST00000590918.1	37	c.177	CCDS12671.1	19																																																																																			GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom		0.667	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	C			46174547	1	no_errors	ENST00000590918	ensembl	human	known	70_37	silent	SNP	0.997	T	T	46174547	C	T	46174547	2	4	103	1	0	0	0	0	0	0	0	1	6414	871	31	1		1	GIPR	19	46174547	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1674171	46174547	12954436	277	15363										
SYMPK	8189	genome.wustl.edu	37	chr19	46332236	46332236	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagccccctcacccatccttCtggtctggtttctcctgcag	7	18	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:46332236C>T	ENST00000245934.7	-	14	2221	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	659					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACCCATCCTTCTGGTCTGGTT	0.627																																																	0													54	56	55					19																	46332236		2203	4300	6503	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1977G>A	19.37:g.46332236C>T			O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.Q659	ENST00000245934.7	37	c.1977	CCDS12676.2	19																																																																																			SYMPK	-	superfamily_ARM-type_fold		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46332236	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46332236	C	T	46332236	2	4	103	1	0	0	0	0	0	0	0	1	15469	912	32	1		1	SYMPK	19	46332236	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	157689	46332236	12796747	278	15364										
ATF5	22809	genome.wustl.edu	37	chr19	50436077	50436077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cccctcctccttctccacctCaaccttctcgcctggccccc	3	25	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:50436077C>G	ENST00000423777.2	+	3	954	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.Q193E|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	193	Interaction with PTP4A1. {ECO:0000250}.|Poly-Pro.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TTCTCCACCTCAACCTTCTCG	0.657																																					GBM(48;768 989 9196 9511 26329)												0													32	24	26					19																	50436077		2201	4299	6500	SO:0001583	missense	22809			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.577C>G	19.37:g.50436077C>G	ENSP00000396954:p.Gln193Glu		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.Q193E	ENST00000423777.2	37	c.577	CCDS12789.1	19	.	.	.	.	.	.	.	.	.	.	C	0	-2.743041	0.00087	.	.	ENSG00000169136	ENST00000423777	T	0.43688	0.94	3.58	2.54	0.30619	.	0.546643	0.17257	U	0.180904	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.28073	-1.0055	10	0.05833	T	0.94	3.2048	3.7096	0.08414	0.2416:0.6228:0.0:0.1356	.	193	Q9Y2D1	ATF5_HUMAN	E	193	ENSP00000396954:Q193E	ENSP00000396954:Q193E	Q	+	1	0	ATF5	55127889	0.007000	0.16637	0.048000	0.18961	0.100000	0.18952	2.255000	0.43222	0.685000	0.31468	0.448000	0.29417	CAA	ATF5	-	NULL		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF5	HGNC	protein_coding	OTTHUMT00000464915.2	C			50436077	1	no_errors	ENST00000423777	ensembl	human	known	70_37	missense	SNP	0.046	G	G	50436077	C	G	50436077	3	3	103	1	0	0	0	0	1	0	0	0	1084	827	29	1	583	1	ATF5	19	50436077	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	4103841	50436077	8692906	279	15365										
NLRP7	199713	genome.wustl.edu	37	chr19	55452863	55452863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	attcatctcttccaagatgtTcacagtcgcattccttatcc	4	13	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:55452863T>C	ENST00000590030.1	-	1	257	c.217A>G	c.(217-219)Aac>Gac	p.N73D	NLRP7_ENST00000340844.2_Missense_Mutation_p.N73D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N73D|NLRP7_ENST00000588756.1_Missense_Mutation_p.N73D|NLRP7_ENST00000448121.2_Missense_Mutation_p.N73D|NLRP7_ENST00000446217.1_Missense_Mutation_p.N101D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N73D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	73	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCAAGATGTTCACAGTCGCA	0.448																																																	0													137	136	137					19																	55452863		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.217A>G	19.37:g.55452863T>C	ENSP00000465520:p.Asn73Asp		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N101D	ENST00000590030.1	37	c.301	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	T	6.327	0.428518	0.11987	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	1.81	-3.61	0.04556	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.27278	0.0669	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22414	0.069;0.069;0.028;0.001	B;B;B;B	0.23716	0.048;0.048;0.029;0.001	T	0.17077	-1.0381	9	0.56958	D	0.05	.	4.404	0.11400	0.0:0.312:0.4374:0.2506	.	101;73;73;73	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	D	73;73;73;101;73	ENSP00000329568:N73D;ENSP00000409137:N73D;ENSP00000339491:N73D;ENSP00000414273:N101D	ENSP00000329568:N73D	N	-	1	0	NLRP7	60144675	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.072000	0.11486	-1.377000	0.02123	0.379000	0.24179	AAC	NLRP7	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN		0.448	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	T	NM_139176		55452863	-1	no_errors	ENST00000446217	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55452863	T	C	55452863	3	2	103	1	0	0	0	0	1	0	0	0	10506	1783	62	5	2936	5	NLRP7	19	55452863	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	5016786	55452863	3676120	280	15366										
ZNF154	7710	genome.wustl.edu	37	chr19	58216246	58216246	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaggttaaaagagccaagttCtccagcatcacatcacggta	9	10	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:58216246C>G	ENST00000512439.2	-	2	331	c.135G>C	c.(133-135)gaG>gaC	p.E45D	ZNF154_ENST00000426889.1_Missense_Mutation_p.E45D|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGCCAAGTTCTCCAGCATCA	0.502																																																	0													166	159	161					19																	58216246		2203	4300	6503	SO:0001583	missense	7710			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"Zinc fingers, C2H2-type", "-"	12939	protein-coding gene	gene with protein product		604085	"zinc finger protein 154 (pHZ-92)"			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.135G>C	19.37:g.58216246C>G	ENSP00000421258:p.Glu45Asp		A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E45D	ENST00000512439.2	37	c.135	CCDS42639.1	19	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090877	0.55968	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.03920	3.76;3.76	2.95	0.665	0.17896	Krueppel-associated box (4);	.	.	.	.	T	0.09774	0.0240	M	0.92268	3.29	0.21499	N	0.999663	B	0.20887	0.049	B	0.23852	0.049	T	0.37572	-0.9700	9	0.23302	T	0.38	.	3.8976	0.09146	0.0:0.5994:0.2533:0.1473	.	45	Q13106	ZN154_HUMAN	D	45	ENSP00000421258:E45D;ENSP00000442370:E45D	ENSP00000442370:E45D	E	-	3	2	ZNF154	62908058	0.819000	0.29175	0.992000	0.48379	0.950000	0.60333	0.481000	0.22260	0.256000	0.21614	0.313000	0.20887	GAG	ZNF154	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF154	HGNC	protein_coding	OTTHUMT00000277102.2	C			58216246	-1	no_errors	ENST00000426889	ensembl	human	known	70_37	missense	SNP	0.993	G	G	58216246	C	G	58216246	3	3	103	1	0	0	0	0	1	0	0	0	17765	912	32	1	1186	1	ZNF154	19	58216246	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2763383	58216246	912737	281	15367										
ZNF8	7554	genome.wustl.edu	37	chr19	58805598	58805598	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccacgttagggaaagacaggGagtgtcagagccagagtctg	15	8	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:58805598G>C	ENST00000196548.5	+	4	555	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	ZNF8_ENST00000608843.1_Missense_Mutation_p.E142Q|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	142					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E142K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAAAGACAGGGAGTGTCAGAG	0.522																																																	1	Substitution - Missense(1)	skin(1)											62	49	54					19																	58805598		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.424G>C	19.37:g.58805598G>C	ENSP00000196548:p.Glu142Gln		Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E142Q	ENST00000196548.5	37	c.424	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052905	0.19907	.	.	ENSG00000083842	ENST00000196548	T	0.06608	3.28	5.02	0.313	0.15842	.	0.875385	0.09664	N	0.772045	T	0.05823	0.0152	L	0.40543	1.245	0.09310	N	1	B	0.22480	0.07	B	0.14023	0.01	T	0.38628	-0.9652	10	0.42905	T	0.14	-0.2303	6.6483	0.22947	0.164:0.4313:0.4047:0.0	.	142	P17098	ZNF8_HUMAN	Q	142	ENSP00000196548:E142Q	ENSP00000196548:E142Q	E	+	1	0	ZNF8	63497410	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.136000	0.10405	0.089000	0.17243	-0.181000	0.13052	GAG	ZNF8	-	NULL		0.522	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58805598	1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.003	C	C	58805598	G	C	58805598	3	2	103	1	0	0	0	0	1	0	0	0	18197	1175	41	1	438	1	ZNF8	19	58805598	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	589352	58805598	323385	282	15368										
SIGLEC1	6614	genome.wustl.edu	37	chr20	3684082	3684082	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aggatgggacctgctgggctCacctggacctcagccactgc	13	14	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:3684082C>T	ENST00000344754.4	-	5	989	c.990G>A	c.(988-990)gtG>gtA	p.V330V	SIGLEC1_ENST00000202578.4_Silent_p.V330V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	330	Ig-like C2-type 3.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGCTGGGCTCACCTGGACCT	0.607																																																	0													62	52	56					20																	3684082		2203	4300	6503	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.990G>A	20.37:g.3684082C>T			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V330	ENST00000344754.4	37	c.990	CCDS13060.1	20																																																																																			SIGLEC1	-	pfscan_Ig-like		0.607	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3684082	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3684082	C	T	3684082	2	4	103	1	0	0	0	0	0	0	0	1	14335	813	29	1		1	SIGLEC1	20	3684082	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		3684082	59341438	283	15369										
VSX1	30813	genome.wustl.edu	37	chr20	25060148	25060148	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtcttcagactggctgtcctCatctgatggcacagaaagaa	10	10	4	4			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:25060148C>G	ENST00000376709.4	-	2	690	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	VSX1_ENST00000451258.1_Missense_Mutation_p.E143Q|VSX1_ENST00000424574.1_Missense_Mutation_p.E143Q|VSX1_ENST00000444511.2_Missense_Mutation_p.E143Q|VSX1_ENST00000429762.3_Missense_Mutation_p.E143Q|VSX1_ENST00000376707.3_Missense_Mutation_p.E143Q	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	143	Asp/Glu-rich (acidic).				neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGCTGTCCTCATCTGATGGC	0.498																																																	0													58	46	50					20																	25060148		2203	4300	6503	SO:0001583	missense	30813			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"Homeoboxes / PRD class"	12723	protein-coding gene	gene with protein product		605020	"posterior polymorphous corneal dystrophy", "visual system homeobox 1 homolog, CHX10-like (zebrafish)"	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.427G>C	20.37:g.25060148C>G	ENSP00000365899:p.Glu143Gln		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E143Q	ENST00000376709.4	37	c.427	CCDS13168.1	20	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932837	0.73442	.	.	ENSG00000100987	ENST00000429762;ENST00000444511;ENST00000424574;ENST00000451258;ENST00000376709;ENST00000376707	D;D;D;D;D;D	0.93859	-3.01;-3.3;-2.98;-3.16;-3.12;-3.22	5.01	5.01	0.66863	.	0.276758	0.40302	N	0.001134	D	0.94532	0.8239	L	0.48642	1.525	0.80722	D	1	D;D;D;P	0.65815	0.982;0.995;0.993;0.952	P;P;P;P	0.62089	0.713;0.862;0.898;0.521	D	0.93239	0.6624	10	0.32370	T	0.25	.	17.0594	0.86543	0.0:1.0:0.0:0.0	.	143;143;143;143	Q9NZR4-7;Q9NZR4-8;Q9NZR4-2;Q9NZR4	.;.;.;VSX1_HUMAN	Q	143	ENSP00000401690:E143Q;ENSP00000387720:E143Q;ENSP00000399496:E143Q;ENSP00000389654:E143Q;ENSP00000365899:E143Q;ENSP00000365897:E143Q	ENSP00000365897:E143Q	E	-	1	0	VSX1	25008148	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.885000	0.48570	2.599000	0.87857	0.462000	0.41574	GAG	VSX1	-	NULL		0.498	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX1	HGNC	protein_coding	OTTHUMT00000078384.3	C			25060148	-1	no_errors	ENST00000376709	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25060148	C	G	25060148	3	3	103	1	0	0	0	0	1	0	0	0	17262	835	29	1	779	1	VSX1	20	25060148	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	21376066	25060148	37965372	284	15370										
COMMD7	149951	genome.wustl.edu	37	chr20	31294509	31294509	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cctggccaatgacctacccaGagttatgaaatccgcctgga	9	13	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:31294509G>C	ENST00000278980.6	-	4	900	c.295C>G	c.(295-297)Ctg>Gtg	p.L99V	COMMD7_ENST00000446419.2_Missense_Mutation_p.L98V	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	99					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						GACCTACCCAGAGTTATGAAA	0.473																																																	0													80	77	78					20																	31294509		1914	4127	6041	SO:0001583	missense	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 92"	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.295C>G	20.37:g.31294509G>C	ENSP00000278980:p.Leu99Val		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	pfam_HCaRG	p.L99V	ENST00000278980.6	37	c.295	CCDS42864.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933446	0.52866	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.15017	2.46;2.46	5.53	4.59	0.56863	.	0.068564	0.64402	D	0.000011	T	0.40040	0.1101	M	0.77313	2.365	0.52501	D	0.999953	D;D	0.76494	0.999;0.999	D;D	0.68943	0.911;0.961	T	0.29088	-1.0023	10	0.52906	T	0.07	.	11.797	0.52106	0.0808:0.0:0.9192:0.0	.	98;99	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	V	99;98	ENSP00000278980:L99V;ENSP00000395339:L98V	ENSP00000278980:L99V	L	-	1	2	COMMD7	30758170	1.000000	0.71417	0.998000	0.56505	0.433000	0.31745	3.890000	0.56220	1.582000	0.49881	-0.122000	0.15005	CTG	COMMD7	-	pfam_HCaRG		0.473	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COMMD7	HGNC	protein_coding	OTTHUMT00000078648.2	G	NM_053041		31294509	-1	no_errors	ENST00000278980	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31294509	G	C	31294509	3	2	103	1	0	0	0	0	1	0	0	0	3726	933	33	1	331	1	COMMD7	20	31294509	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	6234361	31294509	31731011	285	15371										
BPIL1	80341	genome.wustl.edu	37	chr20	31609533	31609533	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tctttctcgcctgcagctctCttggccatgggaattgccct	9	14	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:31609533C>G	ENST00000170150.3	+	15	1458	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	421						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGCAGCTCTCTTGGCCATGG	0.572																																																	0													148	134	139					20																	31609533		2203	4300	6503	SO:0001819	synonymous_variant	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1263C>G	20.37:g.31609533C>G			Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.L421	ENST00000170150.3	37	c.1263	CCDS13210.1	20																																																																																			BPIFB2	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.572	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	C	NM_025227		31609533	1	no_errors	ENST00000170150	ensembl	human	known	70_37	silent	SNP	0.998	G	G	31609533	C	G	31609533	2	3	103	1	0	0	0	0	0	0	0	1	1494	900	32	1		1	BPIL1	20	31609533	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	315024	31609533	31415987	286	15372										
ZNF341	84905	genome.wustl.edu	37	chr20	32357961	32357961	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acatttctggagcacatcaaGagccaccaggaggagctgag	12	10	2	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:32357961G>C	ENST00000375200.1	+	10	1850	c.1485G>C	c.(1483-1485)aaG>aaC	p.K495N	ZNF341_ENST00000342427.2_Missense_Mutation_p.K488N	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGCACATCAAGAGCCACCAGG	0.597																																																	0													71	59	63					20																	32357961		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1485G>C	20.37:g.32357961G>C	ENSP00000364346:p.Lys495Asn		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K495N	ENST00000375200.1	37	c.1485		20	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714687	0.68730	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.37235	1.21;1.21	5.35	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.100365	0.64402	D	0.000003	T	0.31231	0.0790	L	0.42581	1.335	0.37531	D	0.917929	B;B;B	0.32245	0.361;0.324;0.277	B;B;B	0.34038	0.136;0.174;0.109	T	0.34403	-0.9830	10	0.72032	D	0.01	-17.35	9.7884	0.40690	0.1592:0.0:0.8408:0.0	.	436;495;488	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	N	488;495	ENSP00000344308:K488N;ENSP00000364346:K495N	ENSP00000344308:K488N	K	+	3	2	ZNF341	31821622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.914000	0.39966	1.361000	0.45981	0.542000	0.68232	AAG	ZNF341	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.597	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		G			32357961	1	no_errors	ENST00000375200	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32357961	G	C	32357961	3	2	103	1	0	0	0	0	1	0	0	0	17887	933	33	1	1502	1	ZNF341	20	32357961	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	748428	32357961	30667559	287	15373										
PIGU	128869	genome.wustl.edu	37	chr20	33233093	33233093	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	acttaccataaacaccaattCagcatagtcaattaggaaat	4	9	2	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:33233093C>T	ENST00000452740.2	-	3	240	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PIGU_ENST00000374820.2_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	81					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AACACCAATTCAGCATAGTCA	0.239																																																	0													30	31	31					20																	33233093		2200	4290	6490	SO:0001583	missense	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000452740.2:c.241G>A	20.37:g.33233093C>T	ENSP00000416593:p.Glu81Lys		Q7Z489|Q8N2F2	Missense_Mutation	SNP	pfam_PIG-U	p.E81K	ENST00000452740.2	37	c.241		20	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430106	0.62844	.	.	ENSG00000101464	ENST00000217446;ENST00000452740	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.52759	1.655	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.79108	0.992;0.849	T	0.60500	-0.7251	9	0.02654	T	1	.	16.4116	0.83717	0.0:1.0:0.0:0.0	.	81;81	E7EVL4;Q9H490	.;PIGU_HUMAN	K	81	.	ENSP00000217446:E81K	E	-	1	0	PIGU	32696754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.692000	0.68256	2.615000	0.88500	0.655000	0.94253	GAA	PIGU	-	NULL		0.239	PIGU-202	KNOWN	basic	protein_coding	PIGU	HGNC	protein_coding		C	NM_080476		33233093	-1	no_errors	ENST00000217446	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33233093	C	T	33233093	3	4	103	1	0	0	0	0	1	0	0	0	11924	835	29	1	1106	1	PIGU	20	33233093	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	875132	33233093	29792427	288	15374										
SDC4	6385	genome.wustl.edu	37	chr20	43955982	43955982	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tagctgccttcatccttcttCttcatacggtacatgagcag	7	12	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:43955982C>T	ENST00000372733.3	-	5	558	c.519G>A	c.(517-519)aaG>aaA	p.K173K	SDC4_ENST00000537976.1_Silent_p.K101K	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	173					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CATCCTTCTTCTTCATACGGT	0.537			T	ROS1	NSCLC																																			Dom	yes		20	20q12	6385	syndecan 4		E	0													117	102	107					20																	43955982		2203	4300	6503	SO:0001819	synonymous_variant	6385			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.519G>A	20.37:g.43955982C>T			O00773|Q16833|Q53FN9|Q6FGN3	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.K173	ENST00000372733.3	37	c.519	CCDS13350.1	20																																																																																			SDC4	-	pfam_Syndecan,smart_Neurexin-like		0.537	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC4	HGNC	protein_coding	OTTHUMT00000080515.1	C	NM_002999		43955982	-1	no_errors	ENST00000372733	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43955982	C	T	43955982	2	4	103	1	0	0	0	0	0	0	0	1	13984	912	32	1		1	SDC4	20	43955982	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	10722889	43955982	19069538	289	15375										
ZSWIM1	90204	genome.wustl.edu	37	chr20	44512530	44512530	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	agcatcctgggcagcaagtgGagtgagaccctggataagca	14	9	0	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:44512530G>C	ENST00000372523.1	+	2	1394	c.1299G>C	c.(1297-1299)tgG>tgC	p.W433C	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.W433C	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	433						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCAGCAAGTGGAGTGAGACCC	0.617																																																	0													69	63	65					20																	44512530		2203	4300	6503	SO:0001583	missense	90204			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.1299G>C	20.37:g.44512530G>C	ENSP00000361601:p.Trp433Cys		Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.W433C	ENST00000372523.1	37	c.1299	CCDS13382.2	20	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592274	0.46214	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24350	1.86;1.86	5.24	4.27	0.50696	.	0.261629	0.27280	U	0.020096	T	0.25827	0.0629	L	0.27053	0.805	0.58432	D	0.999997	D	0.53312	0.959	P	0.47744	0.556	T	0.03306	-1.1050	10	0.49607	T	0.09	.	15.7365	0.77849	0.0:0.1368:0.8632:0.0	.	433	Q9BR11	ZSWM1_HUMAN	C	433	ENSP00000361601:W433C;ENSP00000361598:W433C	ENSP00000361598:W433C	W	+	3	0	ZSWIM1	43945937	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.420000	0.52735	1.379000	0.46325	0.655000	0.94253	TGG	ZSWIM1	-	NULL		0.617	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM1	HGNC	protein_coding	OTTHUMT00000157064.2	G	NM_080603		44512530	1	no_errors	ENST00000372520	ensembl	human	known	70_37	missense	SNP	0.995	C	C	44512530	G	C	44512530	3	2	103	1	0	0	0	0	1	0	0	0	18270	1183	41	1	1301	1	ZSWIM1	20	44512530	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	556548	44512530	18512990	290	15376										
CD40	958	genome.wustl.edu	37	chr20	44756862	44756862	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctcttggtgctggtctttatCagtgagtcctcaggtgggga	14	8	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:44756862C>T	ENST00000372285.3	+	7	717	c.645C>T	c.(643-645)atC>atT	p.I215I	CD40_ENST00000372276.3_Splice_Site_p.Q195*|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	215					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TGGTCTTTATCAGTGAGTCCT	0.522									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153	136	141					20																	44756862		2203	4300	6503	SO:0001630	splice_region_variant	958	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.646+1C>T	20.37:g.44756862C>T		926	E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt	p.Q195*	ENST00000372285.3	37	c.583	CCDS13393.1	20	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225145	0.58668	.	.	ENSG00000101017	ENST00000372276	.	.	.	4.59	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.36141	D	0.846769	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.8817	2.7124	0.05179	0.1878:0.5269:0.1821:0.1032	.	.	.	.	X	195	.	ENSP00000361350:Q195X	Q	+	1	0	CD40	44190269	0.273000	0.24181	0.411000	0.26484	0.469000	0.32828	1.195000	0.32186	1.135000	0.42183	0.491000	0.48974	CAA	CD40	-	NULL		0.522	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40	HGNC	protein_coding	OTTHUMT00000080376.1	C	NM_001250	Silent	44756862	1	no_errors	ENST00000372276	ensembl	human	known	70_37	nonsense	SNP	0.022	T	T	44756862	C	T	44756862	5	4	103	1	0	0	0	0	0	0	1	0	3020	840	29	1	671	1	CD40	20	44756862	Splice_Site	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	244332	44756862	18268658	291	15377										
CSE1L	1434	genome.wustl.edu	37	chr20	47701908	47701908	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttcctggctcttcagaaaatGaatatattatgaaaggtagg	9	5	2	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:47701908G>A	ENST00000262982.2	+	16	1831	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	CSE1L_ENST00000542325.1_Missense_Mutation_p.E353K|CSE1L_ENST00000396192.3_Missense_Mutation_p.E514K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	570					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCAGAAAATGAATATATTAT	0.403																																																	0													82	80	81					20																	47701908		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1708G>A	20.37:g.47701908G>A	ENSP00000262982:p.Glu570Lys		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E570K	ENST00000262982.2	37	c.1708	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.379745	0.95945	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.56103	0.48;0.48;0.48	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.996;0.998;1.0	D;D;D;D;D	0.79784	0.968;0.99;0.985;0.979;0.993	T	0.79995	-0.1568	10	0.48119	T	0.1	-20.6253	19.3797	0.94527	0.0:0.0:1.0:0.0	.	259;353;514;514;570	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	168;570;353;514	ENSP00000262982:E570K;ENSP00000446477:E353K;ENSP00000379495:E514K	ENSP00000262982:E570K	E	+	1	0	CSE1L	47135315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.660000	0.90430	0.655000	0.94253	GAA	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold		0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47701908	1	no_errors	ENST00000262982	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47701908	G	A	47701908	3	1	103	1	0	0	0	0	1	0	0	0	3935	1291	45	1	1766	1	CSE1L	20	47701908	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	2945046	47701908	15323612	292	15378										
TFF1	7031	genome.wustl.edu	37	chr21	43786545	43786545	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgggcctcggccagggtgccGagggccagcatggacaccag	17	13	0	0	rs142874600		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:43786545G>T	ENST00000291527.2	-	1	158	c.60C>A	c.(58-60)ctC>ctA	p.L20L		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	20					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)		p.L20L(1)		cervix(1)|lung(1)	2						CCAGGGTGCCGAGGGCCAGCA	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											46	42	43					21																	43786545		2203	4300	6503	SO:0001819	synonymous_variant	7031			BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"breast cancer, estrogen-inducible sequence expressed in"	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.60C>A	21.37:g.43786545G>T				Silent	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.L20	ENST00000291527.2	37	c.60	CCDS13685.1	21																																																																																			TFF1	-	NULL		0.637	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF1	HGNC	protein_coding	OTTHUMT00000195361.1	G	NM_003225		43786545	-1	no_errors	ENST00000291527	ensembl	human	known	70_37	silent	SNP	0.811	T	T	43786545	G	T	43786545	2	4	103	1	0	0	0	0	0	0	0	1	15833	1045	37	3		3	TFF1	21	43786545	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09		43786545	4343350	293	15379										
AIRE	326	genome.wustl.edu	37	chr21	45711046	45711046	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tgctgtgacggctgccctcgGgccttccacctggcctgcct	12	17	0	1	rs145274715		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:45711046G>T	ENST00000291582.5	+	8	1075	c.948G>T	c.(946-948)cgG>cgT	p.R316R	AIRE_ENST00000329347.4_Silent_p.R109R|AIRE_ENST00000355347.4_Silent_p.R109R	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	316					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCTGCCCTCGGGCCTTCCACC	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													52	41	45					21																	45711046		2203	4298	6501	SO:0001819	synonymous_variant	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.948G>T	21.37:g.45711046G>T			B2RP50|O43922|O43932|O75745	Silent	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.R316	ENST00000291582.5	37	c.948	CCDS13706.1	21																																																																																			AIRE	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.682	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	G			45711046	1	no_errors	ENST00000291582	ensembl	human	known	70_37	silent	SNP	0.779	T	T	45711046	G	T	45711046	2	4	103	1	0	0	0	0	0	0	0	1	437	1219	43	4		4	AIRE	21	45711046	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1924501	45711046	2418849	294	15380										
C21orf57	54059	genome.wustl.edu	37	chr21	47711284	47711284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aatttccccagcctgattttCcagatgactacaatttggga	7	10	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:47711284C>G	ENST00000329319.3	+	3	645	c.247C>G	c.(247-249)Cca>Gca	p.P83A	YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.P83A|YBEY_ENST00000397694.1_Missense_Mutation_p.P38A|YBEY_ENST00000397701.4_Missense_Mutation_p.P83A|YBEY_ENST00000397692.1_Intron	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	83					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GCCTGATTTTCCAGATGACTA	0.413																																																	0													97	96	96					21																	47711284		2203	4300	6503	SO:0001583	missense	54059			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 57"	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.247C>G	21.37:g.47711284C>G	ENSP00000329614:p.Pro83Ala		B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd	p.P83A	ENST00000329319.3	37	c.247	CCDS33591.1	21	.	.	.	.	.	.	.	.	.	.	C	3.460	-0.110186	0.06924	.	.	ENSG00000182362	ENST00000397701;ENST00000397694;ENST00000329319;ENST00000397691	.	.	.	4.96	4.96	0.65561	Metalloprotease catalytic domain, predicted (1);	0.510139	0.20059	N	0.100138	T	0.39253	0.1071	L	0.42686	1.345	0.09310	N	0.999999	B;B;B	0.23249	0.017;0.035;0.082	B;B;B	0.24701	0.007;0.018;0.055	T	0.18935	-1.0321	9	0.23302	T	0.38	-18.6302	11.3524	0.49596	0.0:0.9153:0.0:0.0847	.	38;83;83	P58557-3;P58557;Q8TBC8	.;YBEY_HUMAN;.	A	83;38;83;83	.	ENSP00000329614:P83A	P	+	1	0	YBEY	46535712	0.943000	0.32029	0.014000	0.15608	0.280000	0.26924	2.531000	0.45650	2.268000	0.75426	0.407000	0.27541	CCA	YBEY	-	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd		0.413	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1	C	NM_058181		47711284	1	no_errors	ENST00000329319	ensembl	human	known	70_37	missense	SNP	0.209	G	G	47711284	C	G	47711284	3	3	103	1	0	0	0	0	1	0	0	0	2133	855	30	1	253	1	C21orf57	21	47711284	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	2000238	47711284	418611	295	15381										
SCARF2	91179	genome.wustl.edu	37	chr22	20786087	20786087	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cagcggcactcgccaggcctCacgcacacctcgttctctga	9	18	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:20786087C>G	ENST00000266214.5	-	3	383	c.279G>C	c.(277-279)gtG>gtC	p.V93V	SCARF2_ENST00000405555.3_Silent_p.V93V	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	93	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCCAGGCCTCACGCACACCT	0.687																																																	0													34	25	28					22																	20786087		2192	4287	6479	SO:0001819	synonymous_variant	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.279G>C	22.37:g.20786087C>G			E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.V93	ENST00000266214.5	37	c.279	CCDS13779.1	22																																																																																			SCARF2	-	smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom		0.687	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	C			20786087	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	silent	SNP	1.000	G	G	20786087	C	G	20786087	2	3	103	1	0	0	0	0	0	0	0	1	13914	813	29	1		1	SCARF2	22	20786087	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09		20786087	30518479	296	15382										
MED15	51586	genome.wustl.edu	37	chr22	20905774	20905774	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttatccattttcgagacattCgtaagtaagattttgcattt	6	6	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:20905774C>T	ENST00000263205.7	+	3	277	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	MED15_ENST00000541476.1_Splice_Site_p.H44Y|MED15_ENST00000292733.7_Splice_Site_p.H70Y|MED15_ENST00000425759.2_Splice_Site_p.H30Y|MED15_ENST00000382974.2_Splice_Site_p.H70Y|MED15_ENST00000406969.1_Splice_Site_p.H44Y|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	70	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCGAGACATTCGTAAGTAAGA	0.488																																																	0													236	213	221					22																	20905774		2203	4300	6503	SO:0001630	splice_region_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.208+1C>T	22.37:g.20905774C>T			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.H70Y	ENST00000263205.7	37	c.208	CCDS33602.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.66|15.66	2.897854|2.897854	0.52227|0.52227	.|.	.|.	ENSG00000099917|ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000445189;ENST00000542312;ENST00000451058;ENST00000457322;ENST00000428629;ENST00000424287|ENST00000423862	T|.	0.42131|.	0.98|.	5.62|5.62	4.6|4.6	0.57074|0.57074	Mediator complex, subunit Med15, metazoa (1);|.	0.112493|.	0.64402|.	D|.	0.000012|.	T|T	0.62563|0.62563	0.2438|0.2438	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.24368|.	0.011;0.009;0.009;0.011;0.102|.	B;B;B;B;B|.	0.09377|.	0.002;0.001;0.001;0.002;0.004|.	T|T	0.58607|0.58607	-0.7607|-0.7607	10|5	0.51188|.	T|.	0.08|.	.|.	11.8989|11.8989	0.52671|0.52671	0.0:0.9157:0.0:0.0843|0.0:0.9157:0.0:0.0843	.|.	89;44;70;70;70|.	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3|.	.;.;.;MED15_HUMAN;.|.	Y|L	44;44;44;30;70;70;44;70;44;44;44;44;31;23;23|37	ENSP00000372434:H70Y|.	ENSP00000263205:H70Y|.	H|S	+|+	1|2	0|0	MED15|MED15	19235774|19235774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.704000|0.704000	0.40688|0.40688	3.616000|3.616000	0.54174|0.54174	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CAT|TCA	MED15	-	pfam_Mediator_Med15_met		0.488	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	C	NM_015889	Missense_Mutation	20905774	1	no_errors	ENST00000263205	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20905774	C	T	20905774	5	4	103	1	0	0	0	0	0	0	1	0	9456	898	31	1	218	1	MED15	22	20905774	Splice_Site	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	119687	20905774	30398792	297	15383										
PI4KA	5297	genome.wustl.edu	37	chr22	21167759	21167759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gatggttgaaaagtagtactCaggctctagggcagtcccat	12	8	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:21167759C>G	ENST00000572273.1	-	8	948	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	PI4KA_ENST00000255882.6_Missense_Mutation_p.E298Q			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	240					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AAGTAGTACTCAGGCTCTAGG	0.507																																					GBM(136;1332 1831 3115 23601 50806)												0													83	82	82					22																	21167759		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.718G>C	22.37:g.21167759C>G	ENSP00000458238:p.Glu240Gln		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E298Q	ENST00000572273.1	37	c.892		22	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358730	0.24598	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.05	2.8	0.32819	.	0.256923	0.42548	D	0.000682	T	0.28995	0.0720	N	0.08118	0	0.80722	D	1	B;B	0.19817	0.039;0.026	B;B	0.22880	0.032;0.042	T	0.05989	-1.0852	9	0.16420	T	0.52	-8.3755	10.9422	0.47281	0.0:0.796:0.1302:0.0738	.	298;240	D3DX33;P42356	.;PI4KA_HUMAN	Q	240	.	ENSP00000255882:E240Q	E	-	1	0	PI4KA	19497759	0.998000	0.40836	0.631000	0.29282	0.669000	0.39330	3.910000	0.56371	1.235000	0.43724	0.561000	0.74099	GAG	PI4KA	-	superfamily_ARM-type_fold		0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21167759	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	missense	SNP	0.993	G	G	21167759	C	G	21167759	3	3	103	1	0	0	0	0	1	0	0	0	11897	835	29	1	5608	1	PI4KA	22	21167759	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	261985	21167759	30136807	298	15384										
KCNJ4	3761	genome.wustl.edu	37	chr22	38822988	38822988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctcctcctccatctcctcttCctcctggctcataagggcca	5	19	3	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:38822988C>T	ENST00000303592.3	-	2	1408	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	384	Poly-Glu.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATCTCCTCTTCCTCCTGGCTC	0.687																																																	0													32	42	39					22																	38822988		2202	4299	6501	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1150G>A	22.37:g.38822988C>T	ENSP00000306497:p.Glu384Lys		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.E384K	ENST00000303592.3	37	c.1150	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269900	0.80469	.	.	ENSG00000168135	ENST00000303592	D	0.90324	-2.65	4.52	3.48	0.39840	.	0.226724	0.34223	U	0.004143	D	0.87067	0.6085	N	0.08118	0	0.42318	D	0.992249	D	0.67145	0.996	P	0.55923	0.787	D	0.88987	0.3412	10	0.56958	D	0.05	.	14.8107	0.69992	0.0:0.8547:0.1453:0.0	.	384	P48050	IRK4_HUMAN	K	384	ENSP00000306497:E384K	ENSP00000306497:E384K	E	-	1	0	KCNJ4	37152934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.048000	0.71046	1.012000	0.39366	0.456000	0.33151	GAA	KCNJ4	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3		0.687	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	C	NM_004981		38822988	-1	no_errors	ENST00000303592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38822988	C	T	38822988	3	4	103	1	0	0	0	0	1	0	0	0	8073	864	30	1	191	1	KCNJ4	22	38822988	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	17655229	38822988	12481578	299	15385										
ATF4	468	genome.wustl.edu	37	chr22	39917981	39917981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cggtgaacccaattggccatCtcccagaaagtttaacaaaa	7	11	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:39917981C>G	ENST00000337304.2	+	2	1312	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	ATF4_ENST00000404241.2_Missense_Mutation_p.L144V|ATF4_ENST00000396680.1_Missense_Mutation_p.L144V	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	144					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AATTGGCCATCTCCCAGAAAG	0.537																																																	0													129	144	139					22																	39917981		2203	4300	6503	SO:0001583	missense	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.430C>G	22.37:g.39917981C>G	ENSP00000336790:p.Leu144Val		Q9UH31	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L144V	ENST00000337304.2	37	c.430	CCDS13996.1	22	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247009	0.39697	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.39592	1.07;1.07;1.07	4.74	2.19	0.27852	.	0.442651	0.24005	N	0.042433	T	0.39835	0.1093	M	0.76002	2.32	0.42452	D	0.992753	P	0.44429	0.835	B	0.38500	0.275	T	0.47129	-0.9141	10	0.87932	D	0	-23.2684	8.8853	0.35400	0.0:0.7184:0.1402:0.1414	.	144	P18848	ATF4_HUMAN	V	144	ENSP00000384587:L144V;ENSP00000336790:L144V;ENSP00000379912:L144V	ENSP00000336790:L144V	L	+	1	0	ATF4	38247927	0.010000	0.17322	0.998000	0.56505	0.997000	0.91878	1.099000	0.31013	0.968000	0.38212	0.561000	0.74099	CTC	ATF4	-	NULL		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917981	1	no_errors	ENST00000337304	ensembl	human	known	70_37	missense	SNP	0.689	G	G	39917981	C	G	39917981	3	3	103	1	0	0	0	0	1	0	0	0	1083	913	32	1	436	1	ATF4	22	39917981	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1094993	39917981	11386585	300	15386										
CACNA1I	8911	genome.wustl.edu	37	chr22	40061888	40061888	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctcaccccctttccccagctCttcaagggcaagttctacca	5	18	4	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:40061888C>G	ENST00000402142.3	+	23	3981	c.3981C>G	c.(3979-3981)ctC>ctG	p.L1327L	CACNA1I_ENST00000404898.1_Silent_p.L1292L|CACNA1I_ENST00000401624.1_Silent_p.L1327L|CACNA1I_ENST00000407673.1_Silent_p.L1292L|CACNA1I_ENST00000400164.3_Silent_p.L1292L|CACNA1I_ENST00000336649.4_Silent_p.L1333L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1327					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCCCCAGCTCTTCAAGGGCA	0.572																																																	0													120	130	127					22																	40061888		2088	4201	6289	SO:0001819	synonymous_variant	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3981C>G	22.37:g.40061888C>G			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L1333	ENST00000402142.3	37	c.3999	CCDS46710.1	22																																																																																			CACNA1I	-	pfam_Ion_trans_dom		0.572	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40061888	1	no_errors	ENST00000336649	ensembl	human	known	70_37	silent	SNP	1.000	G	G	40061888	C	G	40061888	2	3	103	1	0	0	0	0	0	0	0	1	2551	900	32	1		1	CACNA1I	22	40061888	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	143907	40061888	11242678	301	15387										
TNRC6B	23112	genome.wustl.edu	37	chr22	40706860	40706860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	taaaacccggggagggtcacCgtacaaccagtttgatatca	10	10	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:40706860C>T	ENST00000454349.2	+	17	4509	c.4298C>T	c.(4297-4299)cCg>cTg	p.P1433L	TNRC6B_ENST00000301923.9_Missense_Mutation_p.P629L|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P629L|TNRC6B_ENST00000335727.9_Missense_Mutation_p.P1323L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1433	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGAGGGTCACCGTACAACCAG	0.468																																																	0													49	47	47					22																	40706860		1861	4099	5960	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4298C>T	22.37:g.40706860C>T	ENSP00000401946:p.Pro1433Leu		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P1433L	ENST00000454349.2	37	c.4298	CCDS54533.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.465310|5.465310	0.96257|0.96257	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.34072|.	1.38;1.38;2.58;2.6|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.047866|.	0.85682|.	D|.	0.000000|.	T|T	0.74824|0.74824	0.3767|0.3767	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.994;0.998;0.998;0.996|.	T|T	0.70741|0.70741	-0.4789|-0.4789	10|5	0.72032|.	D|.	0.01|.	-6.69|-6.69	20.206|20.206	0.98277|0.98277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1433;1323;1323;629|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	L|C	629;629;1433;1323;1323|1119	ENSP00000306759:P629L;ENSP00000384795:P629L;ENSP00000401946:P1433L;ENSP00000338371:P1323L|.	ENSP00000306759:P629L|.	P|R	+|+	2|1	0|0	TNRC6B|TNRC6B	39036806|39036806	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.974000|0.974000	0.67602|0.67602	7.213000|7.213000	0.77950|0.77950	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CCG|CGT	TNRC6B	-	NULL		0.468	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		C			40706860	1	no_errors	ENST00000454349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40706860	C	T	40706860	3	4	103	1	0	0	0	0	1	0	0	0	16371	652	23	2	4485	2	TNRC6B	22	40706860	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	644972	40706860	10597706	302	15388										
EP300	2033	genome.wustl.edu	37	chr22	41533715	41533715	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtcctatgccaacagcagctCaaccatccactactggaatt	6	14	1	0			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:41533715C>T	ENST00000263253.7	+	8	2900	c.1681C>T	c.(1681-1683)Caa>Taa	p.Q561*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	561					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AACAGCAGCTCAACCATCCAC	0.443			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													106	92	97					22																	41533715		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1681C>T	22.37:g.41533715C>T	ENSP00000263253:p.Gln561*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q561*	ENST00000263253.7	37	c.1681	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	49	16.063275	0.99853	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.98	5.98	0.97165	.	0.000000	0.44483	D	0.000443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.138	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	561	.	ENSP00000263253:Q561X	Q	+	1	0	EP300	39863661	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.992000	0.70609	2.835000	0.97688	0.650000	0.86243	CAA	EP300	-	NULL		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41533715	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41533715	C	T	41533715	4	4	103	1	0	0	0	0	0	1	0	0	5160	827	29	1	1711	1	EP300	22	41533715	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	826855	41533715	9770851	303	15389										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50664587	50664587	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	tcctccacctctttggagatGagcacgtagccatgtgtcca	9	13	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:50664587G>C	ENST00000248846.5	-	9	1829	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	TUBGCP6_ENST00000439308.2_Silent_p.L575L|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	575					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTTGGAGATGAGCACGTAGC	0.552																																																	0													242	227	232					22																	50664587		2203	4300	6503	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1725C>G	22.37:g.50664587G>C			Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	pfam_Spc97_Spc98	p.L575	ENST00000248846.5	37	c.1725	CCDS14087.1	22																																																																																			TUBGCP6	-	pfam_Spc97_Spc98		0.552	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50664587	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	silent	SNP	1.000	C	C	50664587	G	C	50664587	2	2	103	1	0	0	0	0	0	0	0	1	16801	1277	45	1		1	TUBGCP6	22	50664587	Silent	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	9130872	50664587	639979	304	15390										
WWC3	55841	genome.wustl.edu	37	chrX	10085617	10085617	+	Frame_Shift_Del	DEL	G	G	-													0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	cgggcacacgcctcggctatGggggacgaagacttaccagg							TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:10085617delG	ENST00000380861.4	+	11	1909	c.1518delG	c.(1516-1518)atgfs	p.M506fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	506					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCGGCTATGGGGGACGAAG	0.721																																																	0													6	7	7					X																	10085617		2130	4182	6312	SO:0001589	frameshift_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1518delG	X.37:g.10085617delG	ENSP00000370242:p.Met506fs		A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D508fs	ENST00000380861.4	37	c.1518	CCDS14136.1	X																																																																																			WWC3	-	NULL		0.721	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	G	NM_015691		10085617	1	no_errors	ENST00000380861	ensembl	human	known	70_37	frame_shift_del	DEL	0.908	-	-	10085617	G	-	10085617	7	5	103	1	0	1	0	1	0	0	0	0	17444	1348	47	0	1556	0	WWC3	23	10085617	Frame_Shift_Del	DEL	G	TCGA-EK-A2R8-01A-21D-A18J-09		10085617	145184943	305	15391										
NHS	4810	genome.wustl.edu	37	chrX	17746202	17746202	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ctgtggatgtaatcacatctCagtcagactcaccaactaga	7	11	4	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:17746202C>T	ENST00000380060.3	+	6	4251	c.3913C>T	c.(3913-3915)Cag>Tag	p.Q1305*	NHS_ENST00000398097.3_Nonsense_Mutation_p.Q1149*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1326					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCACATCTCAGTCAGACTC	0.463																																																	0													96	85	88					X																	17746202		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3913C>T	X.37:g.17746202C>T	ENSP00000369400:p.Gln1305*		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	NULL	p.Q1305*	ENST00000380060.3	37	c.3913	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.577219	0.99431	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.74	4.83	0.62350	.	0.958154	0.08693	N	0.907587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.3944	13.9262	0.63964	0.0:0.7299:0.2701:0.0	.	.	.	.	X	1305;1149;1147	.	ENSP00000369397:Q1147X	Q	+	1	0	NHS	17656123	0.357000	0.24938	0.133000	0.22050	0.853000	0.48598	1.301000	0.33447	2.426000	0.82243	0.544000	0.68410	CAG	NHS	-	NULL		0.463	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17746202	1	no_errors	ENST00000380060	ensembl	human	known	70_37	nonsense	SNP	0.014	T	T	17746202	C	T	17746202	4	4	103	1	0	0	0	0	0	1	0	0	10435	827	29	1	4040	1	NHS	23	17746202	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	7660585	17746202	137524358	306	15392										
GPR64	10149	genome.wustl.edu	37	chrX	19024193	19024193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	atctcctgtctttgacagagCagccattgtctgaccagcct	8	13	3	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:19024193C>T	ENST00000379869.3	-	22	1929	c.1766G>A	c.(1765-1767)tGc>tAc	p.C589Y	GPR64_ENST00000340581.3_Missense_Mutation_p.C470Y|GPR64_ENST00000360279.4_Missense_Mutation_p.C567Y|GPR64_ENST00000379876.1_Missense_Mutation_p.C565Y|GPR64_ENST00000379873.2_Missense_Mutation_p.C589Y|GPR64_ENST00000357544.3_Missense_Mutation_p.C559Y|GPR64_ENST00000356606.4_Missense_Mutation_p.C575Y|GPR64_ENST00000379878.3_Missense_Mutation_p.C573Y|GPR64_ENST00000357991.3_Missense_Mutation_p.C586Y|GPR64_ENST00000354791.3_Missense_Mutation_p.C573Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	589	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTTGACAGAGCAGCCATTGTC	0.527																																																	0													126	107	113					X																	19024193		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1766G>A	X.37:g.19024193C>T	ENSP00000369198:p.Cys589Tyr		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.C589Y	ENST00000379869.3	37	c.1766	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052336	0.55218	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	D;D;D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.73	5.73	0.89815	GPS domain (3);	0.000000	0.64402	D	0.000006	D	0.96800	0.8955	H	0.99104	4.43	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98623	1.0668	10	0.87932	D	0	.	18.9182	0.92515	0.0:1.0:0.0:0.0	.	470;551;559;565;573;589;567;575;586;589;573	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	589;573;573;565;559;589;567;586;575;470	ENSP00000369202:C589Y;ENSP00000369207:C573Y;ENSP00000346845:C573Y;ENSP00000369205:C565Y;ENSP00000350152:C559Y;ENSP00000369198:C589Y;ENSP00000353421:C567Y;ENSP00000350680:C586Y;ENSP00000349015:C575Y;ENSP00000344972:C470Y	ENSP00000344972:C470Y	C	-	2	0	GPR64	18934114	1.000000	0.71417	0.995000	0.50966	0.049000	0.14656	7.442000	0.80503	2.415000	0.81967	0.600000	0.82982	TGC	GPR64	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.527	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19024193	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19024193	C	T	19024193	3	4	103	1	0	0	0	0	1	0	0	0	6724	710	25	4	1319	4	GPR64	23	19024193	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1277991	19024193	136246367	307	15393										
YY2	404281	genome.wustl.edu	37	chrX	21875258	21875258	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtacttgaaagggaagaaacTtcctcctggggggttaccag	13	8	0	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:21875258T>A	ENST00000429584.2	+	1	1154	c.656T>A	c.(655-657)cTt>cAt	p.L219H	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GGGAAGAAACTTCCTCCTGGG	0.483																																																	0													134	147	143					X																	21875258		2203	4300	6503	SO:0001583	missense	404281			AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.656T>A	X.37:g.21875258T>A	ENSP00000389381:p.Leu219His		B2RP10|Q6Q1S4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.L219H	ENST00000429584.2	37	c.656	CCDS14202.1	X	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207191	0.79127	.	.	ENSG00000230797	ENST00000429584	T	0.12569	2.67	4.77	3.52	0.40303	.	0.000000	0.64402	U	0.000001	T	0.10121	0.0248	L	0.57536	1.79	0.38849	D	0.956239	P	0.48407	0.91	B	0.35182	0.197	T	0.17930	-1.0353	10	0.15499	T	0.54	.	8.1211	0.30971	0.182:0.0:0.0:0.818	.	219	O15391	TYY2_HUMAN	H	219	ENSP00000389381:L219H	ENSP00000389381:L219H	L	+	2	0	YY2	21785179	0.746000	0.28272	0.076000	0.20297	0.501000	0.33797	3.716000	0.54904	1.888000	0.54679	0.486000	0.48141	CTT	YY2	-	pirsf_TF_Yin_yang		0.483	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	HGNC	protein_coding	OTTHUMT00000056025.1	T	NM_206923		21875258	1	no_errors	ENST00000429584	ensembl	human	known	70_37	missense	SNP	0.956	A	A	21875258	T	A	21875258	3	1	103	1	0	0	0	0	1	0	0	0	17540	1609	56	5	658	5	YY2	23	21875258	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	2851065	21875258	133395302	308	15394										
DDX53	168400	genome.wustl.edu	37	chrX	23019162	23019162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gtctcaaaagcatttgcataTatggtggtagaaacagaaat	9	5	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:23019162T>C	ENST00000327968.5	+	1	1076	c.988T>C	c.(988-990)Tat>Cat	p.Y330H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	330	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CATTTGCATATATGGTGGTAG	0.398																																																	0													75	72	73					X																	23019162		2203	4300	6503	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.988T>C	X.37:g.23019162T>C	ENSP00000368667:p.Tyr330His		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y330H	ENST00000327968.5	37	c.988	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986966	0.35036	.	.	ENSG00000184735	ENST00000327968	T	0.15256	2.44	4.03	4.03	0.46877	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.065051	0.64402	D	0.000005	T	0.44850	0.1313	M	0.88181	2.935	0.40381	D	0.97944	D	0.58970	0.984	D	0.71414	0.973	T	0.53330	-0.8454	10	0.87932	D	0	-15.0042	10.4397	0.44457	0.0:0.0:0.0:1.0	.	330	Q86TM3	DDX53_HUMAN	H	330	ENSP00000368667:Y330H	ENSP00000368667:Y330H	Y	+	1	0	DDX53	22929083	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	6.724000	0.74747	1.422000	0.47177	0.486000	0.48141	TAT	DDX53	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.398	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	HGNC	protein_coding	OTTHUMT00000056043.1	T	NM_182699		23019162	1	no_errors	ENST00000327968	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23019162	T	C	23019162	3	2	103	1	0	0	0	0	1	0	0	0	4376	1406	49	5	990	5	DDX53	23	23019162	Missense_Mutation	SNP	T	TCGA-EK-A2R8-01A-21D-A18J-09	1143904	23019162	132251398	309	15395										
BCOR	54880	genome.wustl.edu	37	chrX	39934233	39934233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ggtgtattcggtttgaactgCatctctggatttctttccga	10	8	2	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:39934233C>T	ENST00000378444.4	-	4	594	c.366G>A	c.(364-366)atG>atA	p.M122I	BCOR_ENST00000342274.4_Missense_Mutation_p.M122I|BCOR_ENST00000378455.4_Missense_Mutation_p.M122I|BCOR_ENST00000397354.3_Missense_Mutation_p.M122I	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	122					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTTTGAACTGCATCTCTGGAT	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													64	61	62					X																	39934233		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.366G>A	X.37:g.39934233C>T	ENSP00000367705:p.Met122Ile		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M122I	ENST00000378444.4	37	c.366	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	c	5.733	0.319782	0.10845	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.46	1.22	0.21188	.	.	.	.	.	T	0.32971	0.0847	N	0.04508	-0.205	0.23896	N	0.996534	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.20107	-1.0285	9	0.15952	T	0.53	-6.985	5.8957	0.18937	0.1363:0.478:0.0:0.3857	.	122;122;122;122	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	I	122	ENSP00000367716:M122I;ENSP00000380512:M122I;ENSP00000367705:M122I;ENSP00000345923:M122I;ENSP00000384485:M122I	ENSP00000345923:M122I	M	-	3	0	BCOR	39819177	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.252000	0.18278	0.152000	0.19188	0.597000	0.82753	ATG	BCOR	-	NULL		0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	C	NM_017745		39934233	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	0.994	T	T	39934233	C	T	39934233	3	4	103	1	0	0	0	0	1	0	0	0	1387	710	25	4	4949	4	BCOR	23	39934233	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	16915071	39934233	115336327	310	15396										
CSTF2	1478	genome.wustl.edu	37	chrX	100087788	100087788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ccctggccatgagagccgagGaccacccccacatgaactga	10	16	0	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:100087788G>T	ENST00000372972.2	+	10	1113	c.1097G>T	c.(1096-1098)gGa>gTa	p.G366V	CSTF2_ENST00000415585.2_Missense_Mutation_p.G386V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	366	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGAGCCGAGGACCACCCCCA	0.547																																																	0													42	35	37					X																	100087788		2203	4300	6503	SO:0001583	missense	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1097G>T	X.37:g.100087788G>T	ENSP00000362063:p.Gly366Val		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G386V	ENST00000372972.2	37	c.1157	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104420	0.76983	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.32272	1.46;2.27	5.02	5.02	0.67125	.	0.046260	0.85682	D	0.000000	T	0.52075	0.1712	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51624	-0.8682	10	0.48119	T	0.1	-8.3179	17.5534	0.87884	0.0:0.0:1.0:0.0	.	386;349;366	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	386;366;342	ENSP00000387996:G386V;ENSP00000362063:G366V	ENSP00000362063:G366V	G	+	2	0	CSTF2	99974444	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.211000	0.65219	2.071000	0.62044	0.506000	0.49869	GGA	CSTF2	-	NULL		0.547	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	G	NM_001325		100087788	1	no_errors	ENST00000415585	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100087788	G	T	100087788	3	4	103	1	0	0	0	0	1	0	0	0	3989	1174	41	3	1135	3	CSTF2	23	100087788	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	60153555	100087788	55182772	311	15397										
GPRASP1	9737	genome.wustl.edu	37	chrX	101911353	101911353	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	aatccagtcctaaagctgaaGaggaagaagtcattattggg	11	6	1	3			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:101911353G>C	ENST00000361600.5	+	5	3313	c.2512G>C	c.(2512-2514)Gag>Cag	p.E838Q	GPRASP1_ENST00000415986.1_Missense_Mutation_p.E838Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E838Q|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E838Q|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	838	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAAAGCTGAAGAGGAAGAAGT	0.527																																																	0													92	96	95					X																	101911353		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2512G>C	X.37:g.101911353G>C	ENSP00000355146:p.Glu838Gln		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E838Q	ENST00000361600.5	37	c.2512	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990216	0.54041	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	2.46	2.46	0.29980	.	.	.	.	.	T	0.22936	0.0554	L	0.54323	1.7	0.21527	N	0.999653	D	0.67145	0.996	D	0.63703	0.917	T	0.03608	-1.1020	9	0.42905	T	0.14	.	10.2531	0.43381	0.0:0.0:1.0:0.0	.	838	Q5JY77	GASP1_HUMAN	Q	838	ENSP00000393691:E838Q;ENSP00000409420:E838Q;ENSP00000355146:E838Q;ENSP00000445683:E838Q	ENSP00000355146:E838Q	E	+	1	0	GPRASP1	101798009	0.145000	0.22656	0.273000	0.24645	0.742000	0.42306	4.066000	0.57520	1.523000	0.49018	0.292000	0.19580	GAG	GPRASP1	-	NULL		0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	G	NM_014710		101911353	1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.910	C	C	101911353	G	C	101911353	3	2	103	1	0	0	0	0	1	0	0	0	6742	943	33	1	2514	1	GPRASP1	23	101911353	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	1823565	101911353	53359207	312	15398										
CLDN2	9075	genome.wustl.edu	37	chrX	106171764	106171764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	attatctctgtggtgggcatGagatgcacagtcttctgcca	11	9	3	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:106171764G>C	ENST00000541806.1	+	2	825	c.306G>C	c.(304-306)atG>atC	p.M102I	CLDN2_ENST00000540876.1_Missense_Mutation_p.M102I|CLDN2_ENST00000336803.1_Missense_Mutation_p.M102I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	102					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGTGGGCATGAGATGCACAG	0.577																																																	0													135	108	117					X																	106171764		2203	4300	6503	SO:0001583	missense	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.306G>C	X.37:g.106171764G>C	ENSP00000441283:p.Met102Ile		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.M102I	ENST00000541806.1	37	c.306	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514510	0.64522	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89270	-2.49;-2.49;-2.49	5.25	5.25	0.73442	.	0.036719	0.85682	D	0.000000	D	0.92107	0.7498	M	0.73598	2.24	0.80722	D	1	D	0.58970	0.984	P	0.54544	0.755	D	0.92028	0.5631	10	0.44086	T	0.13	.	15.266	0.73663	0.0:0.0:1.0:0.0	.	102	P57739	CLD2_HUMAN	I	102	ENSP00000441283:M102I;ENSP00000443230:M102I;ENSP00000336571:M102I	ENSP00000336571:M102I	M	+	3	0	CLDN2	106058420	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.960000	0.87893	2.195000	0.70347	0.523000	0.50628	ATG	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin		0.577	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1	G			106171764	1	no_errors	ENST00000336803	ensembl	human	known	70_37	missense	SNP	1.000	C	C	106171764	G	C	106171764	3	2	103	1	0	0	0	0	1	0	0	0	3486	1290	45	1	308	1	CLDN2	23	106171764	Missense_Mutation	SNP	G	TCGA-EK-A2R8-01A-21D-A18J-09	4260411	106171764	49098796	313	15399										
LONRF3	79836	genome.wustl.edu	37	chrX	118123583	118123583	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gaaaagaaaaggaaacattgCcagattgaatcccaagaaga	9	6	0	5			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:118123583C>A	ENST00000371628.3	+	4	1303	c.1272C>A	c.(1270-1272)tgC>tgA	p.C424*	LONRF3_ENST00000422289.2_Nonsense_Mutation_p.C168*|LONRF3_ENST00000304778.7_Nonsense_Mutation_p.C383*|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	424							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGAAACATTGCCAGATTGAAT	0.498																																																	0													65	56	59					X																	118123583		2203	4300	6503	SO:0001587	stop_gained	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1272C>A	X.37:g.118123583C>A	ENSP00000360690:p.Cys424*		Q5JPN6|Q8NB00|Q9H647	Nonsense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.C424*	ENST00000371628.3	37	c.1272	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.561327|4.561327	0.86335|0.86335	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	.|.	.|.	.|.	4.53|4.53	-2.6|-2.6	0.06190|0.06190	.|.	0.476404|.	0.22708|.	N|.	0.056617|.	.|T	.|0.40862	.|0.1134	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50617	.|-0.8807	.|3	0.35671|.	T|.	0.21|.	-0.6475|-0.6475	10.1888|10.1888	0.43013|0.43013	0.0:0.2438:0.0:0.7562|0.0:0.2438:0.0:0.7562	.|.	.|.	.|.	.|.	X|T	383;383;424;168|190	.|.	ENSP00000307732:C383X|.	C|P	+|+	3|1	2|0	LONRF3|LONRF3	118007611|118007611	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.067000|0.067000	0.16453|0.16453	-0.695000|-0.695000	0.05109|0.05109	-0.630000|-0.630000	0.05567|0.05567	0.513000|0.513000	0.50165|0.50165	TGC|CCA	LONRF3	-	NULL		0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	C	NM_024778		118123583	1	no_errors	ENST00000371628	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	118123583	C	A	118123583	4	1	103	1	0	0	0	0	0	1	0	0	8919	747	26	4	1286	4	LONRF3	23	118123583	Nonsense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	11951819	118123583	37146977	314	15400										
CUL4B	8450	genome.wustl.edu	37	chrX	119678348	119678348	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	taacttacttgcaaatcagaCagcatgcttaaaaggcttcg	7	9	1	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:119678348C>G	ENST00000404115.3	-	8	1526	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	CUL4B_ENST00000336592.6_Silent_p.L362L|CUL4B_ENST00000371322.5_Silent_p.L357L|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	375					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCAAATCAGACAGCATGCTTA	0.393																																																	0													110	95	100					X																	119678348		2203	4300	6503	SO:0001819	synonymous_variant	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1125G>C	X.37:g.119678348C>G			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L375	ENST00000404115.3	37	c.1125	CCDS35379.1	X																																																																																			CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.393	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	C	NM_003588		119678348	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	silent	SNP	0.051	G	G	119678348	C	G	119678348	2	3	103	1	0	0	0	0	0	0	0	1	4063	465	17	4		4	CUL4B	23	119678348	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	1554765	119678348	35592212	315	15401										
GPR101	83550	genome.wustl.edu	37	chrX	136113039	136113039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	gccttgacctcaccttcatgCtggcggcgaaactcactctc	8	16	4	1			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:136113039C>T	ENST00000298110.1	-	1	794	c.795G>A	c.(793-795)caG>caA	p.Q265Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACCTTCATGCTGGCGGCGAA	0.557																																																	0													167	128	141					X																	136113039		2203	4300	6503	SO:0001819	synonymous_variant	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.795G>A	X.37:g.136113039C>T			Q5JSM8|Q8NG93	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q265	ENST00000298110.1	37	c.795	CCDS14662.1	X																																																																																			GPR101	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	C			136113039	-1	no_errors	ENST00000298110	ensembl	human	known	70_37	silent	SNP	0.404	T	T	136113039	C	T	136113039	2	4	103	1	0	0	0	0	0	0	0	1	6641	796	28	4		4	GPR101	23	136113039	Silent	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	16434691	136113039	19157521	316	15402										
ARHGAP4	393	genome.wustl.edu	37	chrX	153176611	153176611	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.610759493670886	193	1.91771678294958e-82	4.4459128155158	5.25573787951404	3.76755285930948	0.161173479045635	0.380392156862746	150	ttgatgaagcgaatgcagctCtccaccaccaggggcacagg	12	12	1	2			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:153176611C>G	ENST00000350060.5	-	13	1616	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E504D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E502D|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E565D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E347D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	525	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|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)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAATGCAGCTCTCCACCACCA	0.582																																																	0													74	50	58					X																	153176611		2165	4244	6409	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1575G>C	X.37:g.153176611C>G	ENSP00000203786:p.Glu525Asp		Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E525D	ENST00000350060.5	37	c.1575	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696385|3.696385	0.68386|0.68386	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	5.21|5.21	3.06|3.06	0.35304|0.35304	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.157745|.	0.30085|.	N|.	0.010457|.	T|T	0.59824|0.59824	0.2222|0.2222	M|M	0.62266|0.62266	1.93|1.93	0.45867|0.45867	D|D	0.998725|0.998725	D;P|.	0.55800|.	0.973;0.928|.	P;P|.	0.54270|.	0.747;0.747|.	T|T	0.56153|0.56153	-0.8026|-0.8026	10|5	0.41790|.	T|.	0.15|.	.|.	7.0232|7.0232	0.24926|0.24926	0.0:0.6607:0.1464:0.1929|0.0:0.6607:0.1464:0.1929	.|.	565;525|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|T	347;565;525;504;502|40	ENSP00000377322:E347D;ENSP00000359045:E565D;ENSP00000203786:E525D;ENSP00000359033:E504D;ENSP00000444169:E502D|.	ENSP00000203786:E525D|.	E|R	-|-	3|2	2|0	ARHGAP4|ARHGAP4	152829805|152829805	0.936000|0.936000	0.31750|0.31750	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.085000|0.085000	0.14912|0.14912	0.969000|0.969000	0.38237|0.38237	0.509000|0.509000	0.49947|0.49947	GAG|AGA	ARHGAP4	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.582	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153176611	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153176611	C	G	153176611	3	3	103	1	0	0	0	0	1	0	0	0	885	912	32	1	1305	1	ARHGAP4	23	153176611	Missense_Mutation	SNP	C	TCGA-EK-A2R8-01A-21D-A18J-09	17063572	153176611	2093949	317	15403										
SPEN	23013	genome.wustl.edu	37	chr1	16255855	16255855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gaggctgaaagaaagcctgtGaggaaagaaattcttaaaag	12	4	1	4			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:16255855G>A	ENST00000375759.3	+	11	3324	c.3120G>A	c.(3118-3120)gtG>gtA	p.V1040V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1040					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGCCTGTGAGGAAAGAAA	0.453																																																	0													45	51	49					1																	16255855		2202	4300	6502	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3120G>A	1.37:g.16255855G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V1040	ENST00000375759.3	37	c.3120	CCDS164.1	1																																																																																			SPEN	-	NULL		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16255855	1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.014	A	A	16255855	G	A	16255855	2	1	104	1	0	0	0	0	0	0	0	1	15068	1277	45	1		1	SPEN	1	16255855	Silent	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09		16255855	232994766	1	15404										
KIAA1522	57648	genome.wustl.edu	37	chr1	33236208	33236208	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gctgaggcctcagacacactCagcattcggagcagtgggca	13	12	2	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:33236208C>T	ENST00000373480.1	+	6	1354	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.L476L|KIAA1522_ENST00000373481.3_Silent_p.L428L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	417	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGACACACTCAGCATTCGGA	0.662																																																	0													31	36	34					1																	33236208		2049	4191	6240	SO:0001819	synonymous_variant	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1251C>T	1.37:g.33236208C>T			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	NULL	p.L476	ENST00000373480.1	37	c.1428	CCDS55588.1	1																																																																																			KIAA1522	-	NULL		0.662	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	C			33236208	1	no_errors	ENST00000401073	ensembl	human	known	70_37	silent	SNP	0.484	T	T	33236208	C	T	33236208	2	4	104	1	0	0	0	0	0	0	0	1	8258	813	29	1		1	KIAA1522	1	33236208	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	16980353	33236208	216014413	2	15405										
ZSWIM5	57643	genome.wustl.edu	37	chr1	45484400	45484400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	acatgagctttccagagcttCggcggcctgggatgccggcc	14	13	0	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:45484400C>T	ENST00000359600.5	-	14	3489	c.3284G>A	c.(3283-3285)cGa>cAa	p.R1095Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1095						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGCTTCGGCGGCCTGG	0.562											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119	111	114					1																	45484400		2061	4198	6259	SO:0001583	missense	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3284G>A	1.37:g.45484400C>T	ENSP00000352614:p.Arg1095Gln	932	Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.R1095Q	ENST00000359600.5	37	c.3284	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359484	0.82353	.	.	ENSG00000162415	ENST00000359600	T	0.48201	0.82	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.74258	2.255	0.80722	D	1	D	0.55605	0.972	P	0.46237	0.508	T	0.64706	-0.6344	10	0.56958	D	0.05	-15.3351	18.8379	0.92169	0.0:1.0:0.0:0.0	.	1095	Q9P217	ZSWM5_HUMAN	Q	1095	ENSP00000352614:R1095Q	ENSP00000352614:R1095Q	R	-	2	0	ZSWIM5	45256987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.705000	0.68355	2.610000	0.88304	0.561000	0.74099	CGA	ZSWIM5	-	NULL		0.562	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	C	XM_046581		45484400	-1	no_errors	ENST00000359600	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45484400	C	T	45484400	3	4	104	1	0	0	0	0	1	0	0	0	18274	884	31	1	277	1	ZSWIM5	1	45484400	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	12248192	45484400	203766221	3	15406										
COL11A1	1301	genome.wustl.edu	37	chr1	103480147	103480147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ggaaccatcaccaccataacGgaacttggaagagataacat	8	10	1	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:103480147G>T	ENST00000370096.3	-	13	1804	c.1492C>A	c.(1492-1494)Cgt>Agt	p.R498S	COL11A1_ENST00000512756.1_Missense_Mutation_p.R382S|COL11A1_ENST00000358392.2_Missense_Mutation_p.R510S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R459S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	498	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R510C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACCATAACGGAACTTGGAA	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											75	67	70					1																	103480147		2203	4299	6502	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1492C>A	1.37:g.103480147G>T	ENSP00000359114:p.Arg498Ser		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R510S	ENST00000370096.3	37	c.1528	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160294	0.57368	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.87966	-2.32;-2.32;-2.3;-1.64;-1.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.51537	0.649;0.872;0.946;0.798	B;B;P;B	0.44477	0.103;0.357;0.451;0.195	D	0.83578	0.0116	10	0.27785	T	0.31	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	382;459;510;498	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	498;510;459;382;510	ENSP00000359114:R498S;ENSP00000351163:R510S;ENSP00000302551:R459S;ENSP00000426533:R382S;ENSP00000408640:R510S	ENSP00000302551:R459S	R	-	1	0	COL11A1	103252735	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.081000	0.57627	2.620000	0.88729	0.655000	0.94253	CGT	COL11A1	-	NULL		0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103480147	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103480147	G	T	103480147	3	4	104	1	0	0	0	0	1	0	0	0	3672	1116	39	2	4148	2	COL11A1	1	103480147	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	57995747	103480147	145770474	4	15407										
HRNR	388697	genome.wustl.edu	37	chr1	152188964	152188964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cggacccatgtcggccgcggCtaggggactggccagatcca	15	14	0	1	rs78582525	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:152188964C>T	ENST00000368801.2	-	3	5216	c.5141G>A	c.(5140-5142)aGc>aAc	p.S1714N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1714					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGGCCGCGGCTAGGGGACTG	0.642																																																	0													7	3	4					1																	152188964		1115	2296	3411	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5141G>A	1.37:g.152188964C>T	ENSP00000357791:p.Ser1714Asn		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1714N	ENST00000368801.2	37	c.5141	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.643	0.303319	0.10678	.	.	ENSG00000197915	ENST00000368801	T	0.02085	4.46	2.47	1.44	0.22558	.	.	.	.	.	T	0.00695	0.0023	L	0.38175	1.15	0.09310	N	1	P	0.45531	0.86	B	0.43783	0.431	T	0.43278	-0.9401	9	0.16896	T	0.51	.	3.5335	0.07785	0.0:0.5652:0.2725:0.1623	.	1714	Q86YZ3	HORN_HUMAN	N	1714	ENSP00000357791:S1714N	ENSP00000357791:S1714N	S	-	2	0	HRNR	150455588	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.340000	0.19892	0.302000	0.22762	0.500000	0.49745	AGC	HRNR	-	NULL		0.642	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188964	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.006	T	T	152188964	C	T	152188964	3	4	104	1	0	0	0	0	1	0	0	0	7379	797	28	4	3415	4	HRNR	1	152188964	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	48708817	152188964	97061657	5	15408										
LCE2C	353140	genome.wustl.edu	37	chr1	152648817	152648817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ctgccacagctctgggggctGctgctgacctgggctacaga	14	13	1	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:152648817G>A	ENST00000368783.1	+	2	381	c.326G>A	c.(325-327)tGc>tAc	p.C109Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	109	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGGGCTGCTGCTGACCT	0.602																																																	0													32	37	35					1																	152648817		2136	4221	6357	SO:0001583	missense	353140				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.326G>A	1.37:g.152648817G>A	ENSP00000357772:p.Cys109Tyr			Missense_Mutation	SNP	NULL	p.C109Y	ENST00000368783.1	37	c.326	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332394	0.41297	.	.	ENSG00000187180	ENST00000368783	T	0.04083	3.71	3.15	3.15	0.36227	.	.	.	.	.	T	0.08358	0.0208	M	0.71206	2.165	0.23802	N	0.996803	D	0.64830	0.994	P	0.61477	0.889	T	0.07046	-1.0793	9	0.87932	D	0	.	9.9175	0.41444	0.0:0.0:1.0:0.0	.	109	Q5TA81	LCE2C_HUMAN	Y	109	ENSP00000357772:C109Y	ENSP00000357772:C109Y	C	+	2	0	LCE2C	150915441	0.863000	0.29885	0.957000	0.39632	0.958000	0.62258	2.779000	0.47734	1.763000	0.52060	0.563000	0.77884	TGC	LCE2C	-	NULL		0.602	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	G	NM_178429		152648817	1	no_errors	ENST00000368783	ensembl	human	known	70_37	missense	SNP	0.997	A	A	152648817	G	A	152648817	3	1	104	1	0	0	0	0	1	0	0	0	8687	1319	46	4	328	4	LCE2C	1	152648817	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	459853	152648817	96601804	6	15409										
OR6N2	81442	genome.wustl.edu	37	chr1	158747044	158747044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tatagggtagtggaggggccGacaaatggccaggtatctat	15	6	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:158747044G>A	ENST00000339258.1	-	1	381	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGGAGGGGCCGACAAATGGCC	0.512																																																	0													90	92	91					1																	158747044		2203	4300	6503	SO:0001583	missense	81442			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.382C>T	1.37:g.158747044G>A	ENSP00000344101:p.Arg128Trp		Q6IFR2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R128W	ENST00000339258.1	37	c.382	CCDS30906.1	1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859401	0.51376	.	.	ENSG00000188340	ENST00000339258	T	0.01347	4.99	5.17	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.232456	0.21694	N	0.070538	T	0.01092	0.0036	L	0.52126	1.63	0.20196	N	0.999922	D	0.67145	0.996	P	0.50791	0.65	T	0.52238	-0.8602	10	0.54805	T	0.06	-5.5658	9.2573	0.37590	0.0:0.1204:0.4793:0.4003	.	128	Q8NGY6	OR6N2_HUMAN	W	128	ENSP00000344101:R128W	ENSP00000344101:R128W	R	-	1	2	OR6N2	157013668	0.000000	0.05858	1.000000	0.80357	0.962000	0.63368	-0.750000	0.04808	0.689000	0.31550	0.650000	0.86243	CGG	OR6N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N2	HGNC	protein_coding	OTTHUMT00000059068.1	G			158747044	-1	no_errors	ENST00000339258	ensembl	human	known	70_37	missense	SNP	0.236	A	A	158747044	G	A	158747044	3	1	104	1	0	0	0	0	1	0	0	0	11231	1057	37	1	574	1	OR6N2	1	158747044	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	6098227	158747044	90503577	7	15410										
NPL	80896	genome.wustl.edu	37	chr1	182791267	182791268	+	Frame_Shift_Ins	INS	-	-	A													0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	agtacctataactacctgggINSaaaaaagacaaaccagatgt							TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:182791267_182791268insA	ENST00000367553.1	+	10	715_716	c.671_672insA	c.(670-675)ggaaaafs	p.GK224fs	NPL_ENST00000258317.2_Frame_Shift_Ins_p.GK224fs|NPL_ENST00000367552.2_Intron|NPL_ENST00000367555.1_Intron|NPL_ENST00000367554.3_Frame_Shift_Ins_p.GK205fs|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	224					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTACCTGGGAAAAAAGACAA	0.396																																																	0																																										SO:0001589	frameshift_variant	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.677dupA	1.37:g.182791273_182791273dupA	ENSP00000356524:p.Gly224fs		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Frame_Shift_Ins	INS	pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like	p.T227fs	ENST00000367553.1	37	c.671_672	CCDS1350.1	1																																																																																			NPL	-	pfam_Dihydrodipicolinate_synth-like		0.396	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	-	NM_030769		182791268	1	no_errors	ENST00000258317	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.993	A	A	182791268	-	A	182791267	7	5	104	1	0	1	1	0	0	0	0	0	10609	1174	41	0	705	0	NPL	1	182791267	Frame_Shift_Ins	INS	-	TCGA-EK-A2R9-01A-11D-A18J-09	24044223	182791267	66459354	8	15411										
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200730003	200730003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	acttcaagaaccattttacaCagatcagtatgaccaggaac	6	10	2	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:200730003C>A	ENST00000236925.4	+	2	225	c.176C>A	c.(175-177)aCa>aAa	p.T59K	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T59K|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T59K			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	59					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCATTTTACACAGATCAGTAT	0.338																																																	0													149	152	151					1																	200730003		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.176C>A	1.37:g.200730003C>A	ENSP00000236925:p.Thr59Lys		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T59K	ENST00000236925.4	37	c.176		1	.	.	.	.	.	.	.	.	.	.	C	9.325	1.059140	0.19987	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.51;2.52;2.52	5.5	4.59	0.56863	.	0.149463	0.64402	D	0.000014	T	0.10981	0.0268	L	0.37850	1.14	0.54753	D	0.999987	B;P;P	0.37731	0.379;0.473;0.607	B;B;B	0.38712	0.077;0.145;0.28	T	0.02320	-1.1177	10	0.02654	T	1	-12.7573	14.1802	0.65568	0.0:0.9289:0.0:0.0711	.	59;59;59	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	K	59	ENSP00000351684:T59K;ENSP00000416800:T59K;ENSP00000236925:T59K	ENSP00000236925:T59K	T	+	2	0	CAMSAP1L1	198996626	0.992000	0.36948	0.938000	0.37757	0.997000	0.91878	2.865000	0.48412	1.551000	0.49450	0.655000	0.94253	ACA	CAMSAP2	-	NULL		0.338	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200730003	1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	0.994	A	A	200730003	C	A	200730003	3	1	104	1	0	0	0	0	1	0	0	0	2617	478	17	4	182	4	CAMSAP1L1	1	200730003	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	17938736	200730003	48520618	9	15412										
LIN9	286826	genome.wustl.edu	37	chr1	226455783	226455783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	caaaccatcatgaacaccacGtaatcgtgctgagaaaagaa	7	10	1	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:226455783G>A	ENST00000328205.5	-	8	1284	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	LIN9_ENST00000366801.1_Missense_Mutation_p.R196C|LIN9_ENST00000481685.1_Missense_Mutation_p.R212C	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	231	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGAACACCACGTAATCGTGCT	0.363																																					Ovarian(197;1696 2974 11248 14117)												0													117	102	107					1																	226455783		2203	4300	6503	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.739C>T	1.37:g.226455783G>A	ENSP00000329102:p.Arg247Cys		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.R247C	ENST00000328205.5	37	c.739	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628727	0.87560	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85561	0.5725	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.87578	0.994;0.998;0.817	D	0.85889	0.1427	9	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	212;231;381	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	C	207;247;302;196;212;381	.	ENSP00000329102:R247C	R	-	1	0	LIN9	224522406	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.034000	0.64152	2.937000	0.99478	0.650000	0.86243	CGT	LIN9	-	pfam_DIRP		0.363	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	G	NM_173083		226455783	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	A	A	226455783	G	A	226455783	3	1	104	1	0	0	0	0	1	0	0	0	8834	1145	40	2	969	2	LIN9	1	226455783	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	25725780	226455783	22794838	10	15413										
RYR2	6262	genome.wustl.edu	37	chr1	237957284	237957284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aaggccagtgggatagactcGtaatcaacacacagtgagta	11	8	1	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:237957284G>A	ENST00000366574.2	+	95	14217	c.13900G>A	c.(13900-13902)Gta>Ata	p.V4634I	RYR2_ENST00000360064.6_Missense_Mutation_p.V4640I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4618I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4634					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4632I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATAGACTCGTAATCAACAC	0.363																																																	1	Substitution - Missense(1)	endometrium(1)											69	67	68					1																	237957284		1821	4081	5902	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13900G>A	1.37:g.237957284G>A	ENSP00000355533:p.Val4634Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V4640I	ENST00000366574.2	37	c.13918	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409099	0.83340	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.97924	-4.61;-4.59;-4.61	5.69	4.78	0.61160	.	0.100234	0.38164	U	0.001797	D	0.98043	0.9355	M	0.77103	2.36	0.53005	D	0.99996	D;B	0.54047	0.964;0.014	P;B	0.55345	0.774;0.003	D	0.98237	1.0486	10	0.56958	D	0.05	.	14.9449	0.71023	0.0685:0.0:0.9315:0.0	.	67;4634	F5H3C7;Q92736	.;RYR2_HUMAN	I	4634;4640;4618;67	ENSP00000355533:V4634I;ENSP00000353174:V4640I;ENSP00000443798:V4618I	ENSP00000353174:V4640I	V	+	1	0	RYR2	236023907	1.000000	0.71417	0.855000	0.33649	0.912000	0.54170	9.813000	0.99286	1.548000	0.49413	0.655000	0.94253	GTA	RYR2	-	NULL		0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237957284	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	237957284	G	A	237957284	3	1	104	1	0	0	0	0	1	0	0	0	13799	1145	40	2	14278	2	RYR2	1	237957284	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	11501501	237957284	11293337	11	15414										
SLC8A1	6546	genome.wustl.edu	37	chr2	40405622	40405622	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	catcatcaattaccttgactGatattgttttgctgaaacag	6	8	2	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:40405622G>T	ENST00000403092.1	-	3	1853	c.1820C>A	c.(1819-1821)tCa>tAa	p.S607*	SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.S607*|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.S607*|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.S607*|SLC8A1_ENST00000406391.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	607	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TACCTTGACTGATATTGTTTT	0.433																																																	0													182	182	182					2																	40405622		2203	4300	6503	SO:0001587	stop_gained	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1820C>A	2.37:g.40405622G>T	ENSP00000384763:p.Ser607*		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.S607*	ENST00000403092.1	37	c.1820	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.182343	0.98118	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	.	.	.	5.48	5.48	0.80851	.	0.142200	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.8608	0.86018	0.0:0.0:1.0:0.0	.	.	.	.	X	607	.	ENSP00000332931:S607X	S	-	2	0	SLC8A1	40259126	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.712000	0.54875	2.563000	0.86464	0.591000	0.81541	TCA	SLC8A1	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	G	NM_021097		40405622	-1	no_errors	ENST00000332839	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	40405622	G	T	40405622	4	4	104	1	0	0	0	0	0	1	0	0	14736	1294	45	3	1245	3	SLC8A1	2	40405622	Nonsense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09		40405622	202793751	12	15415										
MYO7B	4648	genome.wustl.edu	37	chr2	128335752	128335752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ctcaacgacgccaaggactaCgcccacatccgctcggccat	8	18	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:128335752C>T	ENST00000409816.2	+	8	926	c.894C>T	c.(892-894)taC>taT	p.Y298Y	MYO7B_ENST00000389524.4_Silent_p.Y298Y|MYO7B_ENST00000428314.1_Silent_p.Y298Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	298	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAAGGACTACGCCCACATCC	0.627																																																	0													61	68	65					2																	128335752		2125	4222	6347	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.894C>T	2.37:g.128335752C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.Y298	ENST00000409816.2	37	c.894	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128335752	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.304	T	T	128335752	C	T	128335752	2	4	104	1	0	0	0	0	0	0	0	1	10106	547	19	2		2	MYO7B	2	128335752	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	87930130	128335752	114863621	13	15416										
XIRP2	129446	genome.wustl.edu	37	chr2	168115174	168115174	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cataaagaaaatttgaataaGaataataataacaattatgt	4	2	0	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:168115174G>T	ENST00000409728.1	+	11	2306	c.2217G>T	c.(2215-2217)aaG>aaT	p.K739N	XIRP2_ENST00000409605.1_Missense_Mutation_p.K484N|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.K739N|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K706N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K706N|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1257					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTGAATAAGAATAATAATA	0.303																																																	0													27	27	27					2																	168115174		1804	4054	5858	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2217G>T	2.37:g.168115174G>T	ENSP00000386619:p.Lys739Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K739N	ENST00000409728.1	37	c.2217	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524969	0.27299	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.78364	-1.16;-1.17;-1.16;-1.17;-1.16	5.61	2.73	0.32206	.	.	.	.	.	T	0.58424	0.2121	.	.	.	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.20184	0.028;0.028	T	0.37526	-0.9702	8	0.16420	T	0.52	.	3.5723	0.07922	0.0756:0.2482:0.3466:0.3296	.	706;739	A4UGR9-4;A4UGR9-6	.;.	N	706;739;706;739;484	ENSP00000386454:K706N;ENSP00000386619:K739N;ENSP00000386724:K706N;ENSP00000415541:K739N;ENSP00000386981:K484N	ENSP00000386454:K706N	K	+	3	2	XIRP2	167823420	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.794000	0.38774	0.276000	0.22118	0.511000	0.50034	AAG	XIRP2	-	NULL		0.303	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168115174	1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.990	T	T	168115174	G	T	168115174	3	4	104	1	0	0	0	0	1	0	0	0	17461	933	33	3	11535	3	XIRP2	2	168115174	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	39779422	168115174	75084199	14	15417										
COL4A4	1286	genome.wustl.edu	37	chr2	228004878	228004878	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tggtctttacatcacttaccCgagaccccttttcaggaaca	6	13	3	1	rs371326070		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:228004878C>A	ENST00000396625.3	-	4	398	c.191G>T	c.(190-192)cGg>cTg	p.R64L	COL4A4_ENST00000329662.7_Splice_Site_p.R64L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	64	7S domain.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCACTTACCCGAGACCCCTT	0.388																																																	0													116	112	113					2																	228004878		1887	4095	5982	SO:0001630	splice_region_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.192+1G>T	2.37:g.228004878C>A			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R64L	ENST00000396625.3	37	c.191	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796969	0.70567	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94046	-3.34;-3.24	5.91	4.13	0.48395	.	.	.	.	.	D	0.95683	0.8596	M	0.79693	2.465	0.41029	D	0.985142	D	0.62365	0.991	D	0.64595	0.927	D	0.94931	0.8082	9	0.62326	D	0.03	.	9.2613	0.37614	0.0:0.852:0.0:0.148	.	64	P53420	CO4A4_HUMAN	L	64	ENSP00000379866:R64L;ENSP00000328553:R64L	ENSP00000328553:R64L	R	-	2	0	COL4A4	227713122	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.361000	0.44160	0.845000	0.35118	0.655000	0.94253	CGG	COL4A4	-	pfam_Collagen		0.388	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	C	NM_000092	Missense_Mutation	228004878	-1	no_errors	ENST00000396625	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228004878	C	A	228004878	5	1	104	1	0	0	0	0	0	0	1	0	3698	666	23	2	5061	2	COL4A4	2	228004878	Splice_Site	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	59889704	228004878	15194495	15	15418										
DNER	92737	genome.wustl.edu	37	chr2	230282895	230282895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aggtggctgcattcaggcatGgagcggagaggcactcatta	15	8	2	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:230282895G>A	ENST00000341772.4	-	9	1672	c.1538C>T	c.(1537-1539)cCa>cTa	p.P513L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	513	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTCAGGCATGGAGCGGAGAG	0.537																																																	0													119	106	111					2																	230282895		2203	4300	6503	SO:0001583	missense	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1538C>T	2.37:g.230282895G>A	ENSP00000345229:p.Pro513Leu		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P513L	ENST00000341772.4	37	c.1538	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702188	0.88924	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.99741	-6.6	5.63	5.63	0.86233	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97496	1.0057	10	0.87932	D	0	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	513	Q8NFT8	DNER_HUMAN	L	513;231	ENSP00000345229:P513L	ENSP00000345229:P513L	P	-	2	0	DNER	229991139	1.000000	0.71417	0.204000	0.23530	0.812000	0.45895	9.269000	0.95684	2.835000	0.97688	0.650000	0.86243	CCA	DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.537	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	G	NM_139072		230282895	-1	no_errors	ENST00000341772	ensembl	human	known	70_37	missense	SNP	0.999	A	A	230282895	G	A	230282895	3	1	104	1	0	0	0	0	1	0	0	0	4677	1348	47	4	695	4	DNER	2	230282895	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	2278017	230282895	12916478	16	15419										
KLHL18	23276	genome.wustl.edu	37	chr3	47364191	47364191	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	acgcctgctgcacattccttCgagaacggtgaggtgatgtg	13	10	0	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:47364191C>T	ENST00000232766.5	+	3	414	c.394C>T	c.(394-396)Cga>Tga	p.R132*	KLHL18_ENST00000455924.2_Nonsense_Mutation_p.R20*	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	132								p.R132*(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CACATTCCTTCGAGAACGGTG	0.512																																																	1	Substitution - Nonsense(1)	large_intestine(1)											71	63	66					3																	47364191		2203	4300	6503	SO:0001587	stop_gained	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.394C>T	3.37:g.47364191C>T	ENSP00000232766:p.Arg132*		A8K612|Q7Z3E8|Q8N125	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R132*	ENST00000232766.5	37	c.394	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910488	0.52439	.	.	ENSG00000114648	ENST00000232766;ENST00000437353;ENST00000455924	.	.	.	5.29	3.33	0.38152	.	0.212152	0.41712	D	0.000839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.3802	0.49752	0.512:0.488:0.0:0.0	.	.	.	.	X	132;132;20	.	ENSP00000232766:R132X	R	+	1	2	KLHL18	47339195	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	3.262000	0.51538	1.447000	0.47661	0.655000	0.94253	CGA	KLHL18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.512	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	C	NM_025010		47364191	1	no_errors	ENST00000232766	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	47364191	C	T	47364191	4	4	104	1	0	0	0	0	0	1	0	0	8393	876	31	1	404	1	KLHL18	3	47364191	Nonsense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		47364191	150658239	17	15420										
RBM6	10180	genome.wustl.edu	37	chr3	50006066	50006066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gcaagacaccgattacagaaGcatggagtaccgtgatgtgg	13	8	0	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:50006066G>T	ENST00000266022.4	+	3	1467	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.S271I|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	403					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATTACAGAAGCATGGAGTAC	0.517																																																	0													83	87	86					3																	50006066		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1208G>T	3.37:g.50006066G>T	ENSP00000266022:p.Ser403Ile		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.S403I	ENST00000266022.4	37	c.1208	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931216	0.34096	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.32272	1.46;1.47	5.84	3.82	0.43975	.	0.171610	0.50627	D	0.000101	T	0.14356	0.0347	N	0.14661	0.345	0.80722	D	1	P	0.37955	0.612	B	0.30855	0.121	T	0.08911	-1.0699	9	.	.	.	-9.4014	9.5737	0.39445	0.2458:0.0:0.7542:0.0	.	403	P78332	RBM6_HUMAN	I	403;271	ENSP00000266022:S403I;ENSP00000396466:S271I	.	S	+	2	0	RBM6	49981070	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.023000	0.30065	1.483000	0.48342	0.484000	0.47621	AGC	RBM6	-	NULL		0.517	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50006066	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50006066	G	T	50006066	3	4	104	1	0	0	0	0	1	0	0	0	13174	971	34	4	1214	4	RBM6	3	50006066	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	2641875	50006066	148016364	18	15421										
LRIG1	26018	genome.wustl.edu	37	chr3	66431162	66431162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ggtcactcccacccggctccGggccatttggcgcacttggc	12	17	1	0	rs144222680		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:66431162G>T	ENST00000273261.3	-	18	3418	c.2894C>A	c.(2893-2895)cCg>cAg	p.P965Q	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.P942Q	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	965					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACCCGGCTCCGGGCCATTTGG	0.627																																																	0													67	70	69					3																	66431162		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2894C>A	3.37:g.66431162G>T	ENSP00000273261:p.Pro965Gln		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P965Q	ENST00000273261.3	37	c.2894	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	1.034	-0.681053	0.03353	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.61859	0.07;0.12	5.65	-11.3	0.00108	.	1.052280	0.07379	N	0.887124	T	0.11196	0.0273	N	0.00265	-1.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.07578	-1.0765	10	0.02654	T	1	.	2.8807	0.05646	0.2408:0.1766:0.425:0.1576	.	942;965;965	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	Q	965;942;868	ENSP00000273261:P965Q;ENSP00000373208:P942Q	ENSP00000273261:P965Q	P	-	2	0	LRIG1	66513852	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.957000	0.03861	-2.522000	0.00497	-1.737000	0.00689	CCG	LRIG1	-	NULL		0.627	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	G	NM_015541		66431162	-1	no_errors	ENST00000273261	ensembl	human	known	70_37	missense	SNP	0.003	T	T	66431162	G	T	66431162	3	4	104	1	0	0	0	0	1	0	0	0	8967	1116	39	2	395	2	LRIG1	3	66431162	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	16425096	66431162	131591268	19	15422										
SLC9A10	285335	genome.wustl.edu	37	chr3	111983170	111983170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	acaccatgagaaaagcaataCgtgatagaaaagtccagaat	8	7	0	4	rs201401597		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:111983170C>T	ENST00000305815.5	-	9	1151	c.899G>A	c.(898-900)cGt>cAt	p.R300H	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	300					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAAAGCAATACGTGATAGAAA	0.249																																																	0													35	36	36					3																	111983170		2174	4249	6423	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.899G>A	3.37:g.111983170C>T	ENSP00000306627:p.Arg300His		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R300H	ENST00000305815.5	37	c.899	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739541	0.49045	.	.	ENSG00000172139	ENST00000305815	T	0.06142	3.34	6.11	4.96	0.65561	Cation/H+ exchanger (1);	0.178127	0.40908	D	0.000991	T	0.04952	0.0133	N	0.08118	0	0.80722	D	1	D	0.63046	0.992	P	0.48795	0.59	T	0.57124	-0.7865	10	0.20046	T	0.44	-9.969	10.423	0.44361	0.8322:0.1678:0.0:0.0	.	300	Q4G0N8	S9A10_HUMAN	H	300	ENSP00000306627:R300H	ENSP00000306627:R300H	R	-	2	0	SLC9A10	113465860	1.000000	0.71417	0.971000	0.41717	0.481000	0.33189	3.163000	0.50763	1.126000	0.42016	-0.347000	0.07816	CGT	SLC9C1	-	pfam_Cation/H_exchanger		0.249	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	C	NM_183061		111983170	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.972	T	T	111983170	C	T	111983170	3	4	104	1	0	0	0	0	1	0	0	0	14740	536	19	2	2718	2	SLC9A10	3	111983170	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	45552008	111983170	86039260	20	15423										
CHST13	166012	genome.wustl.edu	37	chr3	126261024	126261024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	catcgttcagcgcctgcggcCgcgcgcgctccccgacgccc	12	21	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:126261024C>T	ENST00000319340.2	+	3	679	c.629C>T	c.(628-630)cCg>cTg	p.P210L		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	210					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGCCTgcggccgcgcgcgctc	0.736																																																	0													3	4	3					3																	126261024		1720	3421	5141	SO:0001583	missense	166012			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.629C>T	3.37:g.126261024C>T	ENSP00000317404:p.Pro210Leu		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	pfam_Sulfotransferase	p.P210L	ENST00000319340.2	37	c.629	CCDS3039.1	3	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369375	0.24771	.	.	ENSG00000180767	ENST00000319340	T	0.71222	-0.55	4.57	3.59	0.41128	.	2.004160	0.02257	U	0.067212	T	0.68869	0.3048	M	0.66378	2.025	0.09310	N	1	B	0.29552	0.248	B	0.23574	0.047	T	0.55970	-0.8056	10	0.52906	T	0.07	-31.5342	6.0243	0.19646	0.2689:0.5638:0.1673:0.0	.	210	Q8NET6	CHSTD_HUMAN	L	210	ENSP00000317404:P210L	ENSP00000317404:P210L	P	+	2	0	CHST13	127743714	0.001000	0.12720	0.455000	0.27031	0.017000	0.09413	0.299000	0.19138	2.082000	0.62665	0.313000	0.20887	CCG	CHST13	-	pfam_Sulfotransferase		0.736	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2	C	NM_152889		126261024	1	no_errors	ENST00000319340	ensembl	human	known	70_37	missense	SNP	0.000	T	T	126261024	C	T	126261024	3	4	104	1	0	0	0	0	1	0	0	0	3406	652	23	2	639	2	CHST13	3	126261024	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	14277854	126261024	71761406	21	15424										
LEPREL1	55214	genome.wustl.edu	37	chr3	189705337	189705337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tctctggcctcaatggatgcCgggtcaatgctatcatccag	10	12	4	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:189705337C>T	ENST00000319332.5	-	5	1274	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	LEPREL1_ENST00000427335.2_Silent_p.P178P	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	359					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAATGGATGCCGGGTCAATGC	0.423																																																	0													95	83	87					3																	189705337		2203	4300	6503	SO:0001819	synonymous_variant	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1077G>A	3.37:g.189705337C>T			B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P359	ENST00000319332.5	37	c.1077	CCDS3294.1	3																																																																																			LEPREL1	-	NULL		0.423	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189705337	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	silent	SNP	0.038	T	T	189705337	C	T	189705337	2	4	104	1	0	0	0	0	0	0	0	1	8750	639	23	2		2	LEPREL1	3	189705337	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	63444313	189705337	8317093	22	15425										
ATP10D	57205	genome.wustl.edu	37	chr4	47584003	47584003	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cagggctcagatactgacatCtttgcatttggaaaccccct	8	12	2	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:47584003C>T	ENST00000273859.3	+	21	3944	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1225					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I1225M(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATACTGACATCTTTGCATTTG	0.468																																																	1	Substitution - Missense(1)	lung(1)											235	210	219					4																	47584003		2203	4300	6503	SO:0001819	synonymous_variant	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3675C>T	4.37:g.47584003C>T			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.I1225	ENST00000273859.3	37	c.3675	CCDS3476.1	4																																																																																			ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transl		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	C	NM_020453		47584003	1	no_errors	ENST00000273859	ensembl	human	known	70_37	silent	SNP	0.999	T	T	47584003	C	T	47584003	2	4	104	1	0	0	0	0	0	0	0	1	1119	903	32	1		1	ATP10D	4	47584003	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		47584003	143570273	23	15426										
CNGA1	1259	genome.wustl.edu	37	chr4	47973119	47973120	+	Splice_Site	INS	-	-	A													0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cgaagagcgagactccatctINSaaaaaaaaaaaatacagtat							TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:47973119_47973120insA	ENST00000544810.1	-	2	141		c.e2-2		CNGA1_ENST00000402813.3_Splice_Site|CNGA1_ENST00000358519.4_Intron|CNGA1_ENST00000420489.2_Intron|CNGA1_ENST00000514170.1_Intron	NM_001142564.1	NP_001136036.1	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1						phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						agactccatctaaaaaaaaaaa	0.421																																																	0																																										SO:0001630	splice_region_variant	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000544810.1:c.207-2->T	4.37:g.47973130_47973130dupA			A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Splice_Site	INS	-	e1-2	ENST00000544810.1	37	c.1-3_4	CCDS43226.1	4																																																																																			CNGA1	-	-		0.421	CNGA1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding		-	NM_000087	Intron	47973120	-1	no_errors	ENST00000402813	ensembl	human	known	70_37	splice_site_ins	INS	0.002:0.019	A	A	47973120	-	A	47973119	8	5	104	1	0	1	1	0	0	0	1	0	3601	1536	53	0	2316	0	CNGA1	4	47973119	Splice_Site	INS	-	TCGA-EK-A2R9-01A-11D-A18J-09	389116	47973119	143181157	24	15427										
SULT1E1	6783	genome.wustl.edu	37	chr4	70715163	70715163	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	agctgttcctaccctgtcctTgcatgaatttctccacaaac	5	14	1	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:70715163T>G	ENST00000226444.3	-	5	600	c.488A>C	c.(487-489)cAa>cCa	p.Q163P		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	163					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	ACCCTGTCCTTGCATGAATTT	0.373																																																	0													66	71	69					4																	70715163		2203	4300	6503	SO:0001583	missense	6783			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.488A>C	4.37:g.70715163T>G	ENSP00000226444:p.Gln163Pro		Q8N6X5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.Q163P	ENST00000226444.3	37	c.488	CCDS3531.1	4	.	.	.	.	.	.	.	.	.	.	T	9.298	1.052449	0.19907	.	.	ENSG00000109193	ENST00000226444	T	0.01767	4.65	3.85	3.85	0.44370	Sulfotransferase domain (1);	1.101880	0.06937	N	0.812061	T	0.05135	0.0137	M	0.68952	2.095	0.31292	N	0.689304	B;B	0.22480	0.07;0.07	B;B	0.36378	0.223;0.223	T	0.12243	-1.0555	10	0.44086	T	0.13	.	11.287	0.49228	0.0:0.0:0.0:1.0	.	163;163	Q53X91;P49888	.;ST1E1_HUMAN	P	163	ENSP00000226444:Q163P	ENSP00000226444:Q163P	Q	-	2	0	SULT1E1	70749752	0.012000	0.17670	0.967000	0.41034	0.267000	0.26476	1.231000	0.32624	1.986000	0.57962	0.528000	0.53228	CAA	SULT1E1	-	pfam_Sulfotransferase_dom		0.373	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	HGNC	protein_coding	OTTHUMT00000251559.1	T	NM_005420		70715163	-1	no_errors	ENST00000226444	ensembl	human	known	70_37	missense	SNP	0.978	G	G	70715163	T	G	70715163	3	3	104	1	0	0	0	0	1	0	0	0	15410	1812	63	5	412	5	SULT1E1	4	70715163	Missense_Mutation	SNP	T	TCGA-EK-A2R9-01A-11D-A18J-09	22742044	70715163	120439113	25	15428										
C4orf21	55345	genome.wustl.edu	37	chr4	113508645	113508645	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	agagctttcattgacagcatCactctgtctttcacttgtgt	7	10	5	2	rs559211971		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:113508645C>A	ENST00000505019.1	-	12	3693	c.3568G>T	c.(3568-3570)Gat>Tat	p.D1190Y		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1190						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		TTGACAGCATCACTCTGTCTT	0.423																																																	0													231	238	236					4																	113508645		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.3568G>T	4.37:g.113508645C>A	ENSP00000424737:p.Asp1190Tyr		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.D1190Y	ENST00000505019.1	37	c.3568		4	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630346	0.46944	.	.	ENSG00000138658	ENST00000505019	D	0.83335	-1.71	5.18	3.43	0.39272	.	1.142180	0.06654	U	0.763257	T	0.78824	0.4344	N	0.14661	0.345	0.09310	N	0.999997	D	0.59767	0.986	P	0.51135	0.66	T	0.68424	-0.5412	10	0.56958	D	0.05	-1.4286	10.5823	0.45263	0.0:0.7753:0.0:0.2247	.	1190	G5EA02	.	Y	1190	ENSP00000424737:D1190Y	ENSP00000404365:D88Y	D	-	1	0	C4orf21	113728094	0.000000	0.05858	0.002000	0.10522	0.076000	0.17211	0.111000	0.15458	1.193000	0.43086	0.586000	0.80456	GAT	C4orf21	-	NULL		0.423	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113508645	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.001	A	A	113508645	C	A	113508645	3	1	104	1	0	0	0	0	1	0	0	0	2259	826	29	3	2814	3	C4orf21	4	113508645	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	42793482	113508645	77645631	26	15429										
PCDH18	54510	genome.wustl.edu	37	chr4	138451499	138451499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gatttctgccgtattattacGcaatgcaggccctataacca	7	11	1	0	rs200901920	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:138451499G>A	ENST00000344876.4	-	1	2130	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582C|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362C|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTATTATTACGCAATGCAGGC	0.463													G|||	4	0.000798722	0	0	5008	,	,		22889	0.003		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	pancreas(1)											206	192	196					4																	138451499		2203	4300	6503	SO:0001583	missense	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1744C>T	4.37:g.138451499G>A	ENSP00000355082:p.Arg582Cys		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R582C	ENST00000344876.4	37	c.1744	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	8.234	0.805358	0.16467	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55930	0.58;0.59;0.49	5.93	4.15	0.48705	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.50446	0.1616	L	0.38175	1.15	0.80722	D	1	P;P;P	0.52463	0.926;0.953;0.941	B;P;B	0.47162	0.226;0.54;0.288	T	0.51687	-0.8674	10	0.56958	D	0.05	.	15.1749	0.72903	0.0:0.0:0.742:0.258	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	C	582;582;362	ENSP00000355082:R582C;ENSP00000390688:R582C;ENSP00000425903:R362C	ENSP00000355082:R582C	R	-	1	0	PCDH18	138670949	0.998000	0.40836	0.082000	0.20525	0.243000	0.25628	2.666000	0.46799	0.777000	0.33496	-0.309000	0.09137	CGT	PCDH18	-	superfamily_Cadherin-like,pfscan_Cadherin		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	G	NM_019035		138451499	-1	no_errors	ENST00000344876	ensembl	human	known	70_37	missense	SNP	0.988	A	A	138451499	G	A	138451499	3	1	104	1	0	0	0	0	1	0	0	0	11537	1087	38	2	1679	2	PCDH18	4	138451499	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	24942854	138451499	52702777	27	15430										
CEP72	55722	genome.wustl.edu	37	chr5	644446	644446	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	caacatttagataaatctttGgaagagaacagtaggttaaa	8	4	1	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:644446G>C	ENST00000264935.5	+	10	1662	c.1572G>C	c.(1570-1572)ttG>ttC	p.L524F	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	524					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATAAATCTTTGGAAGAGAACA	0.368																																																	0													137	142	140					5																	644446		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1572G>C	5.37:g.644446G>C	ENSP00000264935:p.Leu524Phe		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.L524F	ENST00000264935.5	37	c.1572	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180088	0.57800	.	.	ENSG00000112877	ENST00000264935	T	0.36878	1.23	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000004	T	0.58609	0.2134	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61926	-0.6962	10	0.56958	D	0.05	-12.5525	13.3437	0.60559	0.0:0.0:1.0:0.0	.	524	Q9P209	CEP72_HUMAN	F	524	ENSP00000264935:L524F	ENSP00000264935:L524F	L	+	3	2	CEP72	697446	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	2.532000	0.45659	2.277000	0.76020	0.561000	0.74099	TTG	CEP72	-	NULL		0.368	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		644446	1	no_errors	ENST00000264935	ensembl	human	known	70_37	missense	SNP	1.000	C	C	644446	G	C	644446	3	2	104	1	0	0	0	0	1	0	0	0	3265	1339	47	4	1610	4	CEP72	5	644446	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09		644446	180270814	28	15431										
GFRA3	2676	genome.wustl.edu	37	chr5	137599970	137599970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	caaggctgcgggcacggtgaAcggtccaatagatgtccaag	14	10	0	2			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:137599970A>G	ENST00000274721.3	-	2	605	c.359T>C	c.(358-360)gTt>gCt	p.V120A	GFRA3_ENST00000378362.3_Missense_Mutation_p.V120A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	120					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCACGGTGAACGGTCCAATA	0.552																																																	0													84	75	78					5																	137599970		2203	4300	6503	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.359T>C	5.37:g.137599970A>G	ENSP00000274721:p.Val120Ala		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.V120A	ENST00000274721.3	37	c.359	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655743	0.47467	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64085	-0.08;-0.08	5.28	4.14	0.48551	GDNF/GAS1 (2);	0.427443	0.21746	N	0.069748	T	0.56470	0.1987	M	0.61703	1.905	0.24518	N	0.994178	B;B	0.18968	0.026;0.032	B;B	0.22386	0.023;0.039	T	0.55179	-0.8181	10	0.72032	D	0.01	-0.9633	7.0398	0.25013	0.9013:0.0:0.0987:0.0	.	120;120	O60609-2;O60609	.;GFRA3_HUMAN	A	120	ENSP00000274721:V120A;ENSP00000367613:V120A	ENSP00000274721:V120A	V	-	2	0	GFRA3	137627869	0.931000	0.31567	0.865000	0.33974	0.673000	0.39480	3.429000	0.52800	2.003000	0.58678	0.459000	0.35465	GTT	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt		0.552	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	A	NM_001496		137599970	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	missense	SNP	0.825	G	G	137599970	A	G	137599970	3	3	104	1	0	0	0	0	1	0	0	0	6368	43	2	5	871	5	GFRA3	5	137599970	Missense_Mutation	SNP	A	TCGA-EK-A2R9-01A-11D-A18J-09	136955524	137599970	43315290	29	15432										
BCKDHB	594	genome.wustl.edu	37	chr6	80881080	80881080	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aaaatccttgtatattttttGaacctaaaatactttacagg	4	6	0	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:80881080G>T	ENST00000320393.6	+	6	762	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E239*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	239					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TATATTTTTTGAACCTAAAAT	0.299																																																	0													26	32	30					6																	80881080		2202	4297	6499	SO:0001587	stop_gained	594			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.715G>T	6.37:g.80881080G>T	ENSP00000318351:p.Glu239*		Q5T2J3|Q9BQL0	Nonsense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.E239*	ENST00000320393.6	37	c.715	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.376514	0.97515	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4927	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	X	239;239;169	.	ENSP00000318351:E239X	E	+	1	0	BCKDHB	80937799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.938000	0.92943	2.690000	0.91761	0.655000	0.94253	GAA	BCKDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.299	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	G	NM_000056		80881080	1	no_errors	ENST00000320393	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	80881080	G	T	80881080	4	4	104	1	0	0	0	0	0	1	0	0	1361	1291	45	3	737	3	BCKDHB	6	80881080	Nonsense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09		80881080	90233987	30	15433										
SYNE1	23345	genome.wustl.edu	37	chr6	152716766	152716766	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	attgaacctttcttccatttCatggatccataagttcagtt	5	9	3	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:152716766C>T	ENST00000367255.5	-	51	8198	c.7597G>A	c.(7597-7599)Gaa>Aaa	p.E2533K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2572K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2533K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2540K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2540K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2533					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCATTTCATGGATCCAT	0.338										HNSCC(10;0.0054)																																							0													131	121	125					6																	152716766		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7597G>A	6.37:g.152716766C>T	ENSP00000356224:p.Glu2533Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2533K	ENST00000367255.5	37	c.7597	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734582	0.48939	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.56	5.56	0.83823	.	0.094278	0.46145	D	0.000304	T	0.25680	0.0625	L	0.51422	1.61	0.80722	D	1	P;P;P;B	0.52463	0.953;0.594;0.594;0.452	B;B;B;B	0.43194	0.411;0.114;0.114;0.164	T	0.13361	-1.0512	10	0.07175	T	0.84	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	2516;2533;2533;2540	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2533;2540;2533;2540;2572	ENSP00000356224:E2533K;ENSP00000396024:E2540K;ENSP00000265368:E2533K;ENSP00000390975:E2540K;ENSP00000341887:E2572K	ENSP00000265368:E2533K	E	-	1	0	SYNE1	152758459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.648000	0.46647	2.598000	0.87819	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152716766	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152716766	C	T	152716766	3	4	104	1	0	0	0	0	1	0	0	0	15475	835	29	1	19253	1	SYNE1	6	152716766	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	71835686	152716766	18398301	31	15434										
SFRP4	6424	genome.wustl.edu	37	chr7	37956057	37956057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tgtgccggcacatagggatgCgcaccgcctcgcagggcgcg	16	14	0	0	rs555863176		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:37956057C>T	ENST00000436072.2	-	1	460	c.83G>A	c.(82-84)cGc>cAc	p.R28H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	28	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CATAGGGATGCGCACCGCCTC	0.677																																																	0													90	74	79					7																	37956057		2203	4300	6503	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.83G>A	7.37:g.37956057C>T	ENSP00000410715:p.Arg28His		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R28H	ENST00000436072.2	37	c.83	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.347043	0.95807	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.77877	-1.13	4.62	4.62	0.57501	Frizzled domain (5);	0.110378	0.64402	D	0.000005	D	0.85366	0.5680	M	0.64260	1.97	0.54753	D	0.999987	D	0.76494	0.999	D	0.64687	0.928	D	0.87130	0.2196	10	0.72032	D	0.01	.	16.3894	0.83528	0.0:1.0:0.0:0.0	.	28	Q6FHJ7	SFRP4_HUMAN	H	28;50	ENSP00000410715:R28H	ENSP00000410715:R28H	R	-	2	0	SFRP4	37922582	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.768000	0.55295	2.376000	0.81061	0.557000	0.71058	CGC	SFRP4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.677	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	C	NM_003014		37956057	-1	no_errors	ENST00000436072	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37956057	C	T	37956057	3	4	104	1	0	0	0	0	1	0	0	0	14193	768	27	2	981	2	SFRP4	7	37956057	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		37956057	121182606	32	15435										
CNTNAP2	26047	genome.wustl.edu	37	chr7	146818156	146818156	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	caccactggcactctgtggtCattgagcgccaggggcggag	15	12	2	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:146818156C>A	ENST00000361727.3	+	6	1356	c.840C>A	c.(838-840)gtC>gtA	p.V280V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	280	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCTGTGGTCATTGAGCGCC	0.537										HNSCC(39;0.1)																																							0													154	124	134					7																	146818156		2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.840C>A	7.37:g.146818156C>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V280	ENST00000361727.3	37	c.840	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.537	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146818156	1	no_errors	ENST00000361727	ensembl	human	known	70_37	silent	SNP	0.998	A	A	146818156	C	A	146818156	2	1	104	1	0	0	0	0	0	0	0	1	3652	813	29	3		3	CNTNAP2	7	146818156	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	108862099	146818156	12320507	33	15436										
ZNF775	285971	genome.wustl.edu	37	chr7	150095001	150095001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	agcggccctacccgtgccccGagtgcggccgccgcttcagc	13	19	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:150095001G>A	ENST00000329630.5	+	3	1539	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGTGCCCCGAGTGCGGCCG	0.697																																																	0													10	14	13					7																	150095001		2169	4254	6423	SO:0001583	missense	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1432G>A	7.37:g.150095001G>A	ENSP00000330838:p.Glu478Lys		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E478K	ENST00000329630.5	37	c.1432	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982795	0.53827	.	.	ENSG00000196456	ENST00000329630	T	0.16597	2.33	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	N	0.17872	0.535	0.09310	N	1	D	0.58970	0.984	P	0.51999	0.687	T	0.08186	-1.0734	8	.	.	.	.	9.1656	0.37050	0.0:0.0:0.783:0.217	.	478	Q96BV0	ZN775_HUMAN	K	478	ENSP00000330838:E478K	.	E	+	1	0	ZNF775	149725934	0.002000	0.14202	0.953000	0.39169	0.997000	0.91878	1.060000	0.30530	2.116000	0.64780	0.563000	0.77884	GAG	ZNF775	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	G	NM_173680		150095001	1	no_errors	ENST00000329630	ensembl	human	known	70_37	missense	SNP	0.002	A	A	150095001	G	A	150095001	3	1	104	1	0	0	0	0	1	0	0	0	18178	1059	37	1	1438	1	ZNF775	7	150095001	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	3276845	150095001	9043662	34	15437										
MURC	347273	genome.wustl.edu	37	chr9	103348259	103348259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gcattttccaaagaaaacatGcagaagacacggcagaatct	8	9	1	4			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:103348259G>T	ENST00000307584.5	+	2	686	c.621G>T	c.(619-621)atG>atT	p.M207I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	207					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAGAAAACATGCAGAAGACAC	0.433																																																	0													97	101	100					9																	103348259		2203	4300	6503	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.621G>T	9.37:g.103348259G>T	ENSP00000418668:p.Met207Ile		B1PRL3|B4DT88	Missense_Mutation	SNP	NULL	p.M207I	ENST00000307584.5	37	c.621	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488004	0.44249	.	.	ENSG00000170681	ENST00000307584	T	0.57907	0.37	5.09	5.09	0.68999	.	0.037722	0.85682	D	0.000000	T	0.47469	0.1447	L	0.46614	1.455	0.45087	D	0.998106	B	0.12013	0.005	B	0.12837	0.008	T	0.35871	-0.9771	10	0.30078	T	0.28	-38.3407	16.3216	0.82953	0.0:0.0:1.0:0.0	.	207	Q5BKX8	MURC_HUMAN	I	207	ENSP00000418668:M207I	ENSP00000418668:M207I	M	+	3	0	MURC	102388080	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.194000	0.42668	2.530000	0.85305	0.561000	0.74099	ATG	MURC	-	NULL		0.433	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	HGNC	protein_coding	OTTHUMT00000053419.2	G	NM_001018116		103348259	1	no_errors	ENST00000307584	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103348259	G	T	103348259	3	4	104	1	0	0	0	0	1	0	0	0	10010	1319	46	4	627	4	MURC	9	103348259	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09		103348259	37865172	35	15438										
CACNA1B	774	genome.wustl.edu	37	chr9	140917674	140917674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	agctgggccgcgacggcgcgCgggggcccgtgggaggcaaa	21	12	0	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:140917674C>T	ENST00000371372.1	+	19	2624	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R827W|CACNA1B_ENST00000371367.5_5'Flank|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R827W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R828W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R828W|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R19W	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	827					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGACGGCGCGCGGGGGCCCGT	0.751																																																	0													2	2	2					9																	140917674		1265	3011	4276	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2479C>T	9.37:g.140917674C>T	ENSP00000360423:p.Arg827Trp		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R828W	ENST00000371372.1	37	c.2482	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074826	0.36566	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97480	-4.08;-4.09;-4.4;-4.09;-4.07;-4.07	3.18	3.18	0.36537	.	66.989100	0.00166	N	0.000000	D	0.94889	0.8348	L	0.36672	1.1	0.36819	D	0.886278	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.08055	0.002;0.003;0.003	D	0.84774	0.0769	10	0.72032	D	0.01	.	8.8738	0.35332	0.0:0.8937:0.0:0.1063	.	827;828;827	B1AQK4;B1AQK7;B1AQK6	.;.;.	W	827;827;19;827;828;828	ENSP00000360423:R827W;ENSP00000277551:R827W;ENSP00000277549:R19W;ENSP00000360414:R827W;ENSP00000360408:R828W;ENSP00000360406:R828W	ENSP00000277549:R19W	R	+	1	2	CACNA1B	140037495	0.000000	0.05858	0.233000	0.24025	0.072000	0.16883	-0.058000	0.11750	1.777000	0.52277	0.455000	0.32223	CGG	CACNA1B	-	NULL		0.751	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140917674	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	0.855	T	T	140917674	C	T	140917674	3	4	104	1	0	0	0	0	1	0	0	0	2544	759	27	2	2553	2	CACNA1B	9	140917674	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	37569415	140917674	295757	36	15439										
FGFR2	2263	genome.wustl.edu	37	chr10	123246890	123246890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	atcactctgatgagtgtataCtctatcaaacagggcttctg	8	9	5	2	rs371596204		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr10:123246890C>T	ENST00000358487.5	-	15	2307	c.2035G>A	c.(2035-2037)Gta>Ata	p.V679I	FGFR2_ENST00000369061.4_Missense_Mutation_p.V567I|FGFR2_ENST00000478859.1_Missense_Mutation_p.V451I|FGFR2_ENST00000356226.4_Missense_Mutation_p.V562I|FGFR2_ENST00000357555.5_Missense_Mutation_p.V590I|FGFR2_ENST00000457416.2_Missense_Mutation_p.V680I|FGFR2_ENST00000369060.4_Missense_Mutation_p.V563I|FGFR2_ENST00000360144.3_Missense_Mutation_p.V591I|FGFR2_ENST00000351936.6_Missense_Mutation_p.V677I|FGFR2_ENST00000369059.1_Missense_Mutation_p.V565I|FGFR2_ENST00000369056.1_Missense_Mutation_p.V680I|FGFR2_ENST00000346997.2_Missense_Mutation_p.V677I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	679	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TGAGTGTATACTCTATCAAAC	0.403		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	58	61	60		2035,2038,1699,1768,1690,1687,1684,1771,2038	4.3	0.9	10		60	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign	679/822,680/770,567/710,590/708,564/707,563/706,562/705,591/681,680/823	123246890	1,13005	2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2035G>A	10.37:g.123246890C>T	ENSP00000351276:p.Val679Ile		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V680I	ENST00000358487.5	37	c.2038	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809110	0.50421	2.27E-4	0.0	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.2	4.27	0.50696	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	N	0.16016	0.355	0.80722	D	1	B;B;B;B;B;B;B;B	0.31655	0.334;0.013;0.011;0.129;0.027;0.008;0.003;0.046	B;B;B;B;B;B;B;B	0.36989	0.238;0.019;0.017;0.161;0.075;0.02;0.011;0.047	T	0.68307	-0.5443	10	0.21540	T	0.41	.	15.7391	0.77870	0.0:0.8628:0.1372:0.0	.	696;678;590;562;679;591;680;582	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	I	590;680;567;679;562;563;565;271;677;680;677;591;680;680;588	ENSP00000350166:V590I;ENSP00000358057:V567I;ENSP00000351276:V679I;ENSP00000348559:V562I;ENSP00000358056:V563I;ENSP00000358055:V565I;ENSP00000404219:V271I;ENSP00000263451:V677I;ENSP00000410294:V680I;ENSP00000309878:V677I;ENSP00000353262:V591I;ENSP00000358052:V680I;ENSP00000358054:V680I;ENSP00000337665:V588I	ENSP00000337665:V588I	V	-	1	0	FGFR2	123236880	1.000000	0.71417	0.913000	0.36048	0.944000	0.59088	5.842000	0.69417	1.261000	0.44149	0.655000	0.94253	GTA	FGFR2	-	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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.403	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	C	NM_022976, NM_000141		123246890	-1	no_errors	ENST00000457416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123246890	C	T	123246890	3	4	104	1	0	0	0	0	1	0	0	0	5884	565	20	4	550	4	FGFR2	10	123246890	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		123246890	12287857	37	15440										
OR5M3	219482	genome.wustl.edu	37	chr11	56237174	56237174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cagccaccatcttcccctgcTccacagactcctctgtggga	7	18	2	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:56237174T>C	ENST00000312240.2	-	1	840	c.800A>G	c.(799-801)gAg>gGg	p.E267G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTTCCCCTGCTCCACAGACTC	0.473																																																	0													16	17	17					11																	56237174		2175	4251	6426	SO:0001583	missense	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.800A>G	11.37:g.56237174T>C	ENSP00000312208:p.Glu267Gly		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E267G	ENST00000312240.2	37	c.800	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106145	0.37145	.	.	ENSG00000174937	ENST00000312240	T	0.00115	8.71	5.08	-0.309	0.12769	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000602	T	0.00210	0.0006	L	0.47016	1.485	0.09310	N	1	P	0.42973	0.796	P	0.52386	0.697	T	0.44128	-0.9348	10	0.51188	T	0.08	-12.8039	5.0497	0.14501	0.0:0.1667:0.291:0.5423	.	267	Q8NGP4	OR5M3_HUMAN	G	267	ENSP00000312208:E267G	ENSP00000312208:E267G	E	-	2	0	OR5M3	55993750	0.000000	0.05858	0.501000	0.27601	0.540000	0.34992	0.436000	0.21526	-0.019000	0.14055	-0.453000	0.05500	GAG	OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	T	NM_001004742		56237174	-1	no_errors	ENST00000312240	ensembl	human	known	70_37	missense	SNP	0.017	C	C	56237174	T	C	56237174	3	2	104	1	0	0	0	0	1	0	0	0	11199	1551	54	5	125	5	OR5M3	11	56237174	Missense_Mutation	SNP	T	TCGA-EK-A2R9-01A-11D-A18J-09		56237174	78769342	38	15441										
EHD1	10938	genome.wustl.edu	37	chr11	64622129	64622129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	atgccctcgccggccccctcGccgtagccgtgcccgaacgg	12	20	0	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:64622129G>A	ENST00000320631.3	-	5	1535	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	EHD1_ENST00000359393.2_Silent_p.G427G|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	427					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGGCCCCCTCGCCGTAGCCGT	0.662																																																	0													108	97	101					11																	64622129		2201	4296	6497	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1281C>T	11.37:g.64622129G>A			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.G427	ENST00000320631.3	37	c.1281	CCDS8084.1	11																																																																																			EHD1	-	NULL		0.662	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	G	NM_006795		64622129	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	0.443	A	A	64622129	G	A	64622129	2	1	104	1	0	0	0	0	0	0	0	1	4987	1074	38	2		2	EHD1	11	64622129	Silent	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	8384955	64622129	70384387	39	15442										
FADD	8772	genome.wustl.edu	37	chr11	70049620	70049620	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cgtccagcctgtcgagcagcGagctgaccgagctcaagttc	12	14	1	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:70049620G>T	ENST00000301838.4	+	1	352	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	19	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.E19K(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTCGAGCAGCGAGCTGACCGA	0.692																																																	1	Substitution - Missense(1)	urinary_tract(1)											13	13	13					11																	70049620		2185	4261	6446	SO:0001587	stop_gained	8772			U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.55G>T	11.37:g.70049620G>T	ENSP00000301838:p.Glu19*		Q14866|Q6IBR4	Nonsense_Mutation	SNP	pfam_Death,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Death,pirsf_FADD,pfscan_Death,pfscan_DED	p.E19*	ENST00000301838.4	37	c.55	CCDS8196.1	11	.	.	.	.	.	.	.	.	.	.	G	40	7.987141	0.98596	.	.	ENSG00000168040	ENST00000301838	.	.	.	4.39	4.39	0.52855	.	0.399782	0.27366	N	0.019700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.7917	14.7887	0.69824	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000301838:E19X	E	+	1	0	FADD	69727268	0.999000	0.42202	0.077000	0.20336	0.983000	0.72400	3.731000	0.55013	2.158000	0.67659	0.491000	0.48974	GAG	FADD	-	pfam_DED,superfamily_DEATH-like,smart_DED,pirsf_FADD,pfscan_DED		0.692	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADD	HGNC	protein_coding	OTTHUMT00000393902.1	G	NM_003824		70049620	1	no_errors	ENST00000301838	ensembl	human	known	70_37	nonsense	SNP	0.280	T	T	70049620	G	T	70049620	4	4	104	1	0	0	0	0	0	1	0	0	5379	1059	37	3	57	3	FADD	11	70049620	Nonsense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	5427491	70049620	64956896	40	15443										
HEPACAM	641654	genome.wustl.edu	37	chr11	124791168	124791168	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gggcggcgacgagtgtgtccGgccggtggctggggagcgcg	23	10	0	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:124791168G>A	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Missense_Mutation_p.R373W	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GAGTGTGTCCGGCCGGTGgct	0.776																																																	0													1	1	1					11																	124791168		524	1220	1744	SO:0001628	intergenic_variant	220296			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124791168G>A				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R373W	ENST00000408930.5	37	c.1117	CCDS41729.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994637	0.93167	.	.	ENSG00000165478	ENST00000298251	T	0.54071	0.59	5.22	4.31	0.51392	.	0.244952	0.32473	N	0.006047	T	0.40743	0.1129	L	0.29908	0.895	0.38687	D	0.952673	B	0.10296	0.003	B	0.01281	0.0	T	0.37753	-0.9692	10	0.66056	D	0.02	-11.947	11.4056	0.49896	0.0849:0.0:0.9151:0.0	.	373	Q14CZ8	HECAM_HUMAN	W	373	ENSP00000298251:R373W	ENSP00000298251:R373W	R	-	1	2	HEPACAM	124296378	0.966000	0.33281	0.991000	0.47740	0.995000	0.86356	1.022000	0.30052	1.174000	0.42811	0.655000	0.94253	CGG	HEPACAM	-	NULL		0.776	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM	HGNC	protein_coding	OTTHUMT00000387129.1	G	NM_001037558		124791168	-1	no_errors	ENST00000298251	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124791168	G	A	124791168	1	1	104	0	1	0	0	0	0	0	0	0	7072	1115	39	2		2	HEPACAM	11	124791168	IGR	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	54741548	124791168	10215348	41	15444										
OPCML	4978	genome.wustl.edu	37	chr11	132399032	132399032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	acagcagggtcacactgcttCcctcattcacagtgatgtct	8	13	4	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:132399032C>A	ENST00000331898.7	-	3	1027	c.449G>T	c.(448-450)gGa>gTa	p.G150V	OPCML_ENST00000541867.1_Missense_Mutation_p.G150V|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.G143V|OPCML_ENST00000374778.4_Missense_Mutation_p.G109V	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	150	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACACTGCTTCCCTCATTCAC	0.468																																																	0													127	96	106					11																	132399032		2201	4297	6498	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.449G>T	11.37:g.132399032C>A	ENSP00000330862:p.Gly150Val		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G150V	ENST00000331898.7	37	c.449	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739278	0.89573	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	H	0.99415	4.555	0.80722	D	1	P;P;P;P	0.52170	0.91;0.568;0.951;0.798	P;P;P;P	0.58454	0.615;0.71;0.839;0.615	D	0.96136	0.9096	10	0.87932	D	0	-15.1282	19.0661	0.93110	0.0:1.0:0.0:0.0	.	150;143;150;150	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	V	150;143;109;117;150	ENSP00000330862:G150V;ENSP00000434750:G143V;ENSP00000363910:G109V;ENSP00000445496:G150V	ENSP00000330862:G150V	G	-	2	0	OPCML	131904242	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.822000	0.75277	2.804000	0.96469	0.462000	0.41574	GGA	OPCML	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.468	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	C	NM_001012393		132399032	-1	no_errors	ENST00000541867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132399032	C	A	132399032	3	1	104	1	0	0	0	0	1	0	0	0	10898	855	30	3	608	3	OPCML	11	132399032	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	7607864	132399032	2607484	42	15445										
PDE3A	5139	genome.wustl.edu	37	chr12	20522788	20522788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cacttactctcactccccgcCgcgggggtggtgctcagctg	12	16	2	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:20522788C>T	ENST00000359062.3	+	1	610	c.570C>T	c.(568-570)gcC>gcT	p.A190A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	190					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CACTCCCCGCCGCGGGGGTGG	0.697																																																	0													15	18	17					12																	20522788		2200	4292	6492	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.570C>T	12.37:g.20522788C>T			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A190	ENST00000359062.3	37	c.570	CCDS31754.1	12																																																																																			PDE3A	-	NULL		0.697	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20522788	1	no_errors	ENST00000359062	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20522788	C	T	20522788	2	4	104	1	0	0	0	0	0	0	0	1	11661	639	23	2		2	PDE3A	12	20522788	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		20522788	113329107	43	15446										
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25398284	C	A	25398284	3	1	104	1	0	0	0	0	1	0	0	0	8458	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	4875496	25398284	108453611	44	15447										
CNTN1	1272	genome.wustl.edu	37	chr12	41419115	41419115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tggacctccaagtgacatgaTtgaggctttcaccaagaaag	10	9	1	4			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:41419115T>C	ENST00000551295.2	+	21	2804	c.2687T>C	c.(2686-2688)aTt>aCt	p.I896T	CNTN1_ENST00000348761.2_Missense_Mutation_p.I885T|CNTN1_ENST00000347616.1_Missense_Mutation_p.I896T|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	896	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGTGACATGATTGAGGCTTTC	0.453																																																	0													159	168	165					12																	41419115		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2687T>C	12.37:g.41419115T>C	ENSP00000447006:p.Ile896Thr		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I896T	ENST00000551295.2	37	c.2687	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	T	6.278	0.419430	0.11928	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.54866	0.55;0.55;0.55	5.15	3.99	0.46301	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.116680	0.56097	N	0.000021	T	0.44030	0.1274	L	0.48260	1.515	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.005	T	0.27262	-1.0079	10	0.25106	T	0.35	.	11.6324	0.51183	0.0:0.0713:0.0:0.9287	.	885;896	Q12860-2;Q12860	.;CNTN1_HUMAN	T	896;896;885	ENSP00000447006:I896T;ENSP00000325660:I896T;ENSP00000261160:I885T	ENSP00000325660:I896T	I	+	2	0	CNTN1	39705382	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	3.502000	0.53332	1.037000	0.40024	0.533000	0.62120	ATT	CNTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	T	NM_001843		41419115	1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	0.998	C	C	41419115	T	C	41419115	3	2	104	1	0	0	0	0	1	0	0	0	3645	1493	52	5	2765	5	CNTN1	12	41419115	Missense_Mutation	SNP	T	TCGA-EK-A2R9-01A-11D-A18J-09	16020831	41419115	92432780	45	15448										
ARID2	196528	genome.wustl.edu	37	chr12	46287285	46287285	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ccagtgctgcacttatggctCtgaggagaggatcaagaaac	12	9	2	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:46287285C>A	ENST00000334344.6	+	19	5402	c.5230C>A	c.(5230-5232)Ctg>Atg	p.L1744M	ARID2_ENST00000457135.1_Missense_Mutation_p.L352M|ARID2_ENST00000422737.1_Missense_Mutation_p.L1595M|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.L1354M	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1744					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTTATGGCTCTGAGGAGAGG	0.438			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													113	101	105					12																	46287285		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5230C>A	12.37:g.46287285C>A	ENSP00000335044:p.Leu1744Met		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1744M	ENST00000334344.6	37	c.5230	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096453	0.56075	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.35973	1.28	5.23	4.34	0.51931	.	0.073359	0.56097	D	0.000039	T	0.41373	0.1156	L	0.29908	0.895	0.43355	D	0.995427	D;D;D	0.89917	1.0;1.0;0.977	D;D;P	0.87578	0.998;0.998;0.831	T	0.19877	-1.0292	10	0.15952	T	0.53	-7.2572	8.6646	0.34112	0.0:0.7775:0.0:0.2225	.	1744;1354;1744	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	M	1744;861;861;1595;1354;352	ENSP00000335044:L1744M	ENSP00000335044:L1744M	L	+	1	2	ARID2	44573552	0.985000	0.35326	0.916000	0.36221	0.985000	0.73830	2.048000	0.41278	1.199000	0.43173	0.467000	0.42956	CTG	ARID2	-	NULL		0.438	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46287285	1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	0.811	A	A	46287285	C	A	46287285	3	1	104	1	0	0	0	0	1	0	0	0	915	912	32	3	5304	3	ARID2	12	46287285	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	4868170	46287285	87564610	46	15449										
ADCY6	112	genome.wustl.edu	37	chr12	49169780	49169780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ccttggagtccttggtccggGagaaggcacgatcaggaacc	14	11	1	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:49169780G>A	ENST00000307885.4	-	8	2466	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.S591F|ADCY6_ENST00000357869.3_Missense_Mutation_p.S591F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	591					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTGGTCCGGGAGAAGGCACG	0.612																																																	0													49	42	44					12																	49169780		2203	4299	6502	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1772C>T	12.37:g.49169780G>A	ENSP00000311405:p.Ser591Phe		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S591F	ENST00000307885.4	37	c.1772	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427352	0.62733	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.77750	-1.12;-1.12;-1.12	4.59	4.59	0.56863	.	0.070634	0.56097	D	0.000023	T	0.77025	0.4070	L	0.36672	1.1	0.58432	D	0.999995	P;P	0.49358	0.905;0.923	P;P	0.50860	0.521;0.652	T	0.77294	-0.2641	10	0.39692	T	0.17	.	16.5327	0.84365	0.0:0.0:1.0:0.0	.	591;591	O43306-2;O43306	.;ADCY6_HUMAN	F	591	ENSP00000350536:S591F;ENSP00000446730:S591F;ENSP00000311405:S591F	ENSP00000311405:S591F	S	-	2	0	ADCY6	47456047	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.319000	0.59197	2.266000	0.75297	0.462000	0.41574	TCC	ADCY6	-	pfam_Adenylate_cyclase-like		0.612	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	G	NM_020983		49169780	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49169780	G	A	49169780	3	1	104	1	0	0	0	0	1	0	0	0	298	1174	41	1	1790	1	ADCY6	12	49169780	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	2882495	49169780	84682115	47	15450										
PIP4K2C	79837	genome.wustl.edu	37	chr12	57985144	57985144	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cccggcccaggtttcggcttCgcctccaagaccaagaagaa	10	15	0	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:57985144C>T	ENST00000354947.5	+	1	88	c.72C>T	c.(70-72)ttC>ttT	p.F24F	PIP4K2C_ENST00000550465.1_Silent_p.F24F|PIP4K2C_ENST00000540759.2_Silent_p.F24F|PIP4K2C_ENST00000422156.3_Silent_p.F24F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	24						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTTTCGGCTTCGCCTCCAAGA	0.652																																																	0													75	82	79					12																	57985144		2203	4300	6503	SO:0001819	synonymous_variant	79837			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.72C>T	12.37:g.57985144C>T			B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.F24	ENST00000354947.5	37	c.72	CCDS8946.1	12																																																																																			PIP4K2C	-	NULL		0.652	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2C	HGNC	protein_coding	OTTHUMT00000407644.1	C	NM_024779		57985144	1	no_errors	ENST00000354947	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57985144	C	T	57985144	2	4	104	1	0	0	0	0	0	0	0	1	11962	883	31	1		1	PIP4K2C	12	57985144	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	8815364	57985144	75866751	48	15451										
CCDC59	29080	genome.wustl.edu	37	chr12	82750802	82750802	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	agctacactgatcttcaaatAaaggctcgtcaatgctacac	6	11	3	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:82750802A>T	ENST00000256151.7	-	2	812	c.401T>A	c.(400-402)tTa>tAa	p.L134*	CCDC59_ENST00000548126.1_5'UTR|METTL25_ENST00000248306.3_5'Flank	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						ATCTTCAAATAAAGGCTCGTC	0.393																																																	0													157	140	146					12																	82750802		2203	4300	6503	SO:0001587	stop_gained	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.401T>A	12.37:g.82750802A>T	ENSP00000256151:p.Leu134*		Q9H2V5|Q9NW62	Nonsense_Mutation	SNP	pfam_rRNA_processing,prints_BR22	p.L134*	ENST00000256151.7	37	c.401	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209462	0.22289	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	4.05	-2.88	0.05682	.	1.646580	0.03231	N	0.178944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-40.4261	5.8869	0.18886	0.5314:0.2395:0.2291:0.0	.	.	.	.	X	134	.	ENSP00000256151:L134X	L	-	2	0	CCDC59	81274933	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.176000	0.16782	-0.928000	0.03761	-2.309000	0.00256	TTA	CCDC59	-	NULL		0.393	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	HGNC	protein_coding	OTTHUMT00000408186.1	A	NM_014167		82750802	-1	no_errors	ENST00000256151	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	82750802	A	T	82750802	4	4	104	1	0	0	0	0	0	1	0	0	2834	372	13	5	336	5	CCDC59	12	82750802	Nonsense_Mutation	SNP	A	TCGA-EK-A2R9-01A-11D-A18J-09	24765658	82750802	51101093	49	15452										
ATP2B1	490	genome.wustl.edu	37	chr12	90003751	90003751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ctgctttctttagtgctgggCcatcatttgtaccatcacca	7	12	3	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:90003751C>A	ENST00000428670.3	-	15	2861	c.2405G>T	c.(2404-2406)gGc>gTc	p.G802V	ATP2B1_ENST00000359142.3_Missense_Mutation_p.G802V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G802V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G545V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G802V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	802					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAGTGCTGGGCCATCATTTGT	0.358																																																	0													132	120	124					12																	90003751		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2405G>T	12.37:g.90003751C>A	ENSP00000392043:p.Gly802Val		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G802V	ENST00000428670.3	37	c.2405	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.093612	0.94149	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	M	0.62016	1.91	0.80722	D	1	P;D;D	0.58970	0.947;0.968;0.984	P;P;P	0.58077	0.634;0.832;0.755	D	0.96171	0.9123	10	0.87932	D	0	-8.1221	20.3431	0.98773	0.0:1.0:0.0:0.0	.	802;802;802	P20020-3;P20020-2;P20020-6	.;.;.	V	802;802;802;802;545	ENSP00000261173:G802V;ENSP00000343599:G802V;ENSP00000352054:G802V;ENSP00000392043:G802V;ENSP00000376869:G545V	ENSP00000261173:G802V	G	-	2	0	ATP2B1	88527882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.081000	0.71309	2.880000	0.98712	0.650000	0.86243	GGC	ATP2B1	-	pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	C	NM_001682		90003751	-1	no_errors	ENST00000261173	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90003751	C	A	90003751	3	1	104	1	0	0	0	0	1	0	0	0	1140	739	26	4	1443	4	ATP2B1	12	90003751	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	7252949	90003751	43848144	50	15453										
SRRM4	84530	genome.wustl.edu	37	chr12	119592176	119592176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cccgagccacctggaggcccGgaggataaccaggtgaggcc	15	14	0	1	rs267603332		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:119592176G>A	ENST00000267260.4	+	12	1908	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	507	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGGAGGCCCGGAGGATAACC	0.652																																																	0													15	19	17					12																	119592176		1862	4082	5944	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1520G>A	12.37:g.119592176G>A	ENSP00000267260:p.Arg507Gln		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.R507Q	ENST00000267260.4	37	c.1520	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.349892	0.97494	.	.	ENSG00000139767	ENST00000267260	T	0.67865	-0.29	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.79902	0.4526	L	0.59436	1.845	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	T	0.78329	-0.2246	9	.	.	.	-12.374	19.0484	0.93032	0.0:0.0:1.0:0.0	.	507	A7MD48	SRRM4_HUMAN	Q	507	ENSP00000267260:R507Q	.	R	+	2	0	SRRM4	118076559	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.222000	0.95196	2.505000	0.84491	0.655000	0.94253	CGG	SRRM4	-	NULL		0.652	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	G	NM_194286		119592176	1	no_errors	ENST00000267260	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119592176	G	A	119592176	3	1	104	1	0	0	0	0	1	0	0	0	15201	1116	39	2	1566	2	SRRM4	12	119592176	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	29588425	119592176	14259719	51	15454										
GOLGA3	2802	genome.wustl.edu	37	chr12	133378543	133378543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gcaaggctgtcatctgctgtCgcaggtcgtgcactgaaatg	13	10	2	1	rs572488166		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:133378543C>T	ENST00000450791.2	-	7	1793	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	GOLGA3_ENST00000456883.2_Missense_Mutation_p.R537Q|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R537Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R537Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R537Q			Q08378	GOGA3_HUMAN	golgin A3	537					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CATCTGCTGTCGCAGGTCGTG	0.667																																																	0													30	27	28					12																	133378543		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1610G>A	12.37:g.133378543C>T	ENSP00000410378:p.Arg537Gln		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R537Q	ENST00000450791.2	37	c.1610	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835656	0.91117	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.79463	-0.1793	10	0.28530	T	0.3	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	537;537;537	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Q	537	ENSP00000204726:R537Q;ENSP00000410378:R537Q;ENSP00000409303:R537Q;ENSP00000442143:R537Q;ENSP00000442603:R537Q	ENSP00000204726:R537Q	R	-	2	0	GOLGA3	131888616	1.000000	0.71417	0.445000	0.26908	0.482000	0.33219	6.045000	0.71020	2.755000	0.94549	0.655000	0.94253	CGA	GOLGA3	-	NULL		0.667	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133378543	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133378543	C	T	133378543	3	4	104	1	0	0	0	0	1	0	0	0	6573	884	31	1	3092	1	GOLGA3	12	133378543	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	13786367	133378543	473352	52	15455										
CRTC3	64784	genome.wustl.edu	37	chr15	91161147	91161147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ctggcccattgaaagaagagAatctgttaaatgttccgaag	10	7	1	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:91161147A>G	ENST00000268184.6	+	8	650	c.646A>G	c.(646-648)Aat>Gat	p.N216D	CRTC3_ENST00000420329.2_Missense_Mutation_p.N216D|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	216					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GAAAGAAGAGAATCTGTTAAA	0.473			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													96	87	90					15																	91161147		2198	4298	6496	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.646A>G	15.37:g.91161147A>G	ENSP00000268184:p.Asn216Asp		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	NULL	p.N216D	ENST00000268184.6	37	c.646	CCDS32331.1	15	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173378	0.57584	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.46063	0.88;0.88	5.12	5.12	0.69794	Transducer of regulated CREB activity, middle domain (1);	0.373373	0.29602	N	0.011697	T	0.43634	0.1256	M	0.62723	1.935	0.42433	D	0.992684	B;B	0.32893	0.389;0.337	B;B	0.38156	0.266;0.173	T	0.32561	-0.9902	10	0.23302	T	0.38	-6.4916	12.937	0.58320	1.0:0.0:0.0:0.0	.	216;216	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	D	180;216;216	ENSP00000268184:N216D;ENSP00000416573:N216D	ENSP00000268184:N216D	N	+	1	0	CRTC3	88962151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.092000	0.57707	2.150000	0.67090	0.383000	0.25322	AAT	CRTC3	-	NULL		0.473	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	A	NM_022769		91161147	1	no_errors	ENST00000268184	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91161147	A	G	91161147	3	3	104	1	0	0	0	0	1	0	0	0	3906	246	9	5	676	5	CRTC3	15	91161147	Missense_Mutation	SNP	A	TCGA-EK-A2R9-01A-11D-A18J-09		91161147	11370245	53	15456										
RANBP10	57610	genome.wustl.edu	37	chr16	67763658	67763658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gccagggtagctgtcctgggActtggggcttcgggagctca	17	10	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:67763658A>T	ENST00000317506.3	-	9	1187	c.1072T>A	c.(1072-1074)Tcc>Acc	p.S358T	RANBP10_ENST00000602677.1_Missense_Mutation_p.S358T|RANBP10_ENST00000448631.2_Missense_Mutation_p.S302T|RANBP10_ENST00000411657.2_Missense_Mutation_p.S241T|RANBP10_ENST00000536251.1_Missense_Mutation_p.S129T	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	358	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CTGTCCTGGGACTTGGGGCTT	0.607																																																	0													82	82	82					16																	67763658		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1072T>A	16.37:g.67763658A>T	ENSP00000316589:p.Ser358Thr		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S358T	ENST00000317506.3	37	c.1072	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584593	0.86748	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.58810	1.83	0.80722	D	1	D;D;D	0.63046	0.979;0.992;0.974	D;D;P	0.76071	0.982;0.987;0.88	T	0.77900	-0.2415	9	0.62326	D	0.03	-2.7014	15.6287	0.76885	1.0:0.0:0.0:0.0	.	241;302;358	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	T	358;302;129;241	.	ENSP00000316589:S358T	S	-	1	0	RANBP10	66321159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.181000	0.69327	0.460000	0.39030	TCC	RANBP10	-	NULL		0.607	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	A	NM_020850		67763658	-1	no_errors	ENST00000317506	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67763658	A	T	67763658	3	4	104	1	0	0	0	0	1	0	0	0	13056	275	10	5	814	5	RANBP10	16	67763658	Missense_Mutation	SNP	A	TCGA-EK-A2R9-01A-11D-A18J-09		67763658	22591095	54	15457										
DPEP2	64174	genome.wustl.edu	37	chr16	68024864	68024864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tgagacatgggataagtctaCcatcatgcccaggcggttca	11	10	3	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:68024864C>T	ENST00000572888.1	-	6	1419	c.769G>A	c.(769-771)Gta>Ata	p.V257I	DPEP2_ENST00000412757.2_Missense_Mutation_p.V257I|DPEP2_ENST00000393847.1_Missense_Mutation_p.V257I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	257					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GATAAGTCTACCATCATGCCC	0.542																																																	0													113	110	111					16																	68024864		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.769G>A	16.37:g.68024864C>T	ENSP00000458977:p.Val257Ile		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.V257I	ENST00000572888.1	37	c.769	CCDS10857.1	16	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636189	0.29068	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.19394	2.15;2.15	4.9	2.9	0.33743	.	0.289561	0.33110	N	0.005270	T	0.14485	0.0350	L	0.27053	0.805	0.80722	D	1	B;B	0.26635	0.155;0.128	B;B	0.37508	0.252;0.163	T	0.11275	-1.0594	10	0.17832	T	0.49	-4.6227	4.8156	0.13365	0.1696:0.6503:0.0:0.1801	.	257;170	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	I	257;257;170	ENSP00000377430:V257I;ENSP00000412549:V257I	ENSP00000314702:V170I	V	-	1	0	DPEP2	66582365	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	0.130000	0.15850	0.753000	0.32945	0.650000	0.86243	GTA	DPEP2	-	pfam_Peptidase_M19		0.542	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	C	NM_022355		68024864	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68024864	C	T	68024864	3	4	104	1	0	0	0	0	1	0	0	0	4724	507	18	4	711	4	DPEP2	16	68024864	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	261206	68024864	22329889	55	15458										
MBTPS1	8720	genome.wustl.edu	37	chr16	84101352	84101352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aagatgacgagcgagaggccGttgtccacgtccctccggag	14	12	0	3			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:84101352G>A	ENST00000343411.3	-	16	2643	c.2148C>T	c.(2146-2148)aaC>aaT	p.N716N	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	716					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGAGAGGCCGTTGTCCACGT	0.478																																																	0													120	100	107					16																	84101352		2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2148C>T	16.37:g.84101352G>A			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.N716	ENST00000343411.3	37	c.2148	CCDS10941.1	16																																																																																			MBTPS1	-	NULL		0.478	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	G	NM_003791		84101352	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	silent	SNP	0.192	A	A	84101352	G	A	84101352	2	1	104	1	0	0	0	0	0	0	0	1	9384	1136	40	2		2	MBTPS1	16	84101352	Silent	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	16076488	84101352	6253401	56	15459										
ZBTB4	57659	genome.wustl.edu	37	chr17	7365772	7365772	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	gggtcctggagtgaggcggtCtcggaagcttcctcagcagc	16	11	2	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:7365772C>A	ENST00000311403.4	-	4	2868	c.2529G>T	c.(2527-2529)gaG>gaT	p.E843D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E843D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	843					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GTGAGGCGGTCTCGGAAGCTT	0.617																																																	0													30	30	30					17																	7365772		2203	4300	6503	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2529G>T	17.37:g.7365772C>A	ENSP00000307858:p.Glu843Asp		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E843D	ENST00000311403.4	37	c.2529	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825798	0.32237	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.05319	3.46;3.46	5.56	-0.454	0.12197	.	0.259857	0.30969	N	0.008510	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	10	0.38643	T	0.18	-4.34	5.4965	0.16805	0.0:0.5043:0.2494:0.2463	.	843	Q9P1Z0	ZBTB4_HUMAN	D	843	ENSP00000307858:E843D;ENSP00000369973:E843D	ENSP00000307858:E843D	E	-	3	2	ZBTB4	7306496	0.000000	0.05858	0.002000	0.10522	0.965000	0.64279	0.003000	0.13083	-0.015000	0.14150	0.655000	0.94253	GAG	ZBTB4	-	NULL		0.617	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7365772	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	missense	SNP	0.002	A	A	7365772	C	A	7365772	3	1	104	1	0	0	0	0	1	0	0	0	17571	912	32	3	516	3	ZBTB4	17	7365772	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		7365772	73829438	57	15460										
TRIM16	10626	genome.wustl.edu	37	chr17	15534963	15534963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ctgttccctggtgctgggctCaggtttggaagtccaatatt	12	9	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:15534963C>G	ENST00000578237.1	-	10	1936	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	TRIM16_ENST00000577886.1_Missense_Mutation_p.E145Q|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.E361Q|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.E231Q|TRIM16_ENST00000336708.7_Missense_Mutation_p.E361Q			O95361	TRI16_HUMAN	tripartite motif containing 16	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GTGCTGGGCTCAGGTTTGGAA	0.478																																																	0													119	99	106					17																	15534963		2203	4300	6503	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1081G>C	17.37:g.15534963C>G	ENSP00000463188:p.Glu361Gln		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.E361Q	ENST00000578237.1	37	c.1081	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978128	0.34942	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69926	-0.17;-0.44	4.61	3.64	0.41730	B30.2/SPRY domain (1);	0.120515	0.53938	D	0.000045	T	0.72898	0.3518	M	0.62088	1.915	0.29257	N	0.871604	D;D;D	0.65815	0.965;0.995;0.987	P;P;P	0.56343	0.631;0.796;0.755	T	0.70468	-0.4863	10	0.72032	D	0.01	.	10.8474	0.46751	0.0:0.9059:0.0:0.0941	.	231;361;375	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	Q	361;231	ENSP00000338989:E361Q;ENSP00000399918:E231Q	ENSP00000338989:E361Q	E	-	1	0	TRIM16	15475688	0.957000	0.32711	0.908000	0.35775	0.948000	0.59901	2.638000	0.46562	1.063000	0.40649	0.555000	0.69702	GAG	TRIM16	-	pfscan_B30.2/SPRY		0.478	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	C	NM_006470		15534963	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	missense	SNP	0.989	G	G	15534963	C	G	15534963	3	3	104	1	0	0	0	0	1	0	0	0	16522	835	29	1	621	1	TRIM16	17	15534963	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	8169191	15534963	65660247	58	15461										
COLEC12	81035	genome.wustl.edu	37	chr18	346550	346550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tagattgctggtcagcgtccGcaggtggtgggctgtgtaac	16	8	1	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr18:346550G>A	ENST00000400256.3	-	5	1279	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	358					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTCAGCGTCCGCAGGTGGTGG	0.468																																																	0													185	152	163					18																	346550		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1072C>T	18.37:g.346550G>A	ENSP00000383115:p.Arg358Trp		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R358W	ENST00000400256.3	37	c.1072	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098547	0.37048	.	.	ENSG00000158270	ENST00000400256	D	0.97161	-4.27	5.86	2.71	0.32032	.	0.051165	0.85682	D	0.000000	D	0.95121	0.8419	L	0.27053	0.805	0.46376	D	0.99901	D	0.71674	0.998	P	0.50791	0.65	D	0.94526	0.7731	10	0.72032	D	0.01	-26.3187	14.6467	0.68767	0.0:0.0:0.5163:0.4837	.	358	Q5KU26	COL12_HUMAN	W	358	ENSP00000383115:R358W	ENSP00000383115:R358W	R	-	1	2	COLEC12	336550	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.864000	0.39469	0.673000	0.31224	0.655000	0.94253	CGG	COLEC12	-	NULL		0.468	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	G			346550	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	346550	G	A	346550	3	1	104	1	0	0	0	0	1	0	0	0	3717	1086	38	2	1180	2	COLEC12	18	346550	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09		346550	77730698	59	15462										
CEP250	11190	genome.wustl.edu	37	chr20	34096011	34096011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	atgtccagctgcggagtaccTtggagcaggtgacccctctt	12	12	1	1	rs535604273	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr20:34096011T>A	ENST00000397527.1	+	32	7618	c.6898T>A	c.(6898-6900)Ttg>Atg	p.L2300M	CEP250_ENST00000342580.4_Missense_Mutation_p.L2244M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2300					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCGGAGTACCTTGGAGCAGGT	0.567																																																	0													112	110	110					20																	34096011		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6898T>A	20.37:g.34096011T>A	ENSP00000380661:p.Leu2300Met		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.L2300M	ENST00000397527.1	37	c.6898	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	T	13.17	2.155922	0.38021	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.52295	1.85;1.69;0.67	4.37	-0.459	0.12179	.	0.000000	0.36854	N	0.002374	T	0.64294	0.2585	M	0.79475	2.455	0.26820	N	0.968801	D	0.89917	1.0	D	0.91635	0.999	T	0.59789	-0.7388	10	0.72032	D	0.01	.	10.9819	0.47499	0.0:0.6493:0.0:0.3507	.	2300	Q9BV73	CP250_HUMAN	M	2300;2244;788	ENSP00000380661:L2300M;ENSP00000341541:L2244M;ENSP00000395992:L788M	ENSP00000341541:L2244M	L	+	1	2	CEP250	33559425	0.455000	0.25736	0.992000	0.48379	0.064000	0.16182	0.212000	0.17497	-0.276000	0.09206	0.374000	0.22700	TTG	CEP250	-	NULL		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	T	NM_007186		34096011	1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	0.974	A	A	34096011	T	A	34096011	3	1	104	1	0	0	0	0	1	0	0	0	3257	1606	56	5	7012	5	CEP250	20	34096011	Missense_Mutation	SNP	T	TCGA-EK-A2R9-01A-11D-A18J-09		34096011	28929509	60	15463										
DDX27	55661	genome.wustl.edu	37	chr20	47839534	47839534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tgagaagattgagaaagttcGaaagaaaaggaaaacagagg	13	2	0	5			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr20:47839534G>A	ENST00000371764.4	+	3	383	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	125	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGAAAGTTCGAAAGAAAAGG	0.408																																																	0													82	81	81					20																	47839534		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.374G>A	20.37:g.47839534G>A	ENSP00000360828:p.Arg125Gln		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R125Q	ENST00000371764.4	37	c.374	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.119838	0.94385	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01474	4.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.08046	-1.0741	10	0.48119	T	0.1	-7.9613	16.0731	0.80948	0.0:0.0:1.0:0.0	.	125	Q96GQ7	DDX27_HUMAN	Q	125	ENSP00000360828:R125Q	ENSP00000360828:R125Q	R	+	2	0	DDX27	47272941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.067000	0.89488	2.941000	0.99782	0.655000	0.94253	CGA	DDX27	-	NULL		0.408	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	G			47839534	1	no_errors	ENST00000371764	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47839534	G	A	47839534	3	1	104	1	0	0	0	0	1	0	0	0	4359	1058	37	1	384	1	DDX27	20	47839534	Missense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	13743523	47839534	15185986	61	15464										
KRTAP10-6	386674	genome.wustl.edu	37	chr21	46011964	46011964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cagctagactgctggcagcaTgaagaatccccacagcagac	10	13	0	4	rs587611979	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr21:46011964T>C	ENST00000400368.1	-	1	422	c.402A>G	c.(400-402)tcA>tcG	p.S134S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	134	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCTGGCAGCATGAAGAATCCC	0.642													.|||	4	0.000798722	0	0	5008	,	,		21320	0		0.003	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.402A>G	21.37:g.46011964T>C				Silent	SNP	NULL	p.S134	ENST00000400368.1	37	c.402	CCDS42959.1	21																																																																																			KRTAP10-6	-	NULL		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	HGNC	protein_coding	OTTHUMT00000128037.1	T	NM_198688		46011964	-1	no_errors	ENST00000400368	ensembl	human	known	70_37	silent	SNP	0.250	C	C	46011964	T	C	46011964	2	2	104	1	0	0	0	0	0	0	0	1	8533	1451	51	5		5	KRTAP10-6	21	46011964	Silent	SNP	T	TCGA-EK-A2R9-01A-11D-A18J-09		46011964	2117931	62	15465										
FTCD	10841	genome.wustl.edu	37	chr21	47570313	47570313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cgggctcacctgtgcttctcGgcaggtctcctcgtagaccg	12	15	3	1	rs140217223		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr21:47570313G>A	ENST00000291670.5	-	6	806	c.763C>T	c.(763-765)Cga>Tga	p.R255*	FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000355384.2_Nonsense_Mutation_p.R255*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.R255*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.R255*|FTCD_ENST00000397748.1_Nonsense_Mutation_p.R255*|FTCD_ENST00000397743.1_Nonsense_Mutation_p.R255*	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	255	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TGTGCTTCTCGGCAGGTCTCC	0.647																																																	0								G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	58	56	56		763,763	0.9	1	21	dbSNP_134	56	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	FTCD	NM_006657.2,NM_206965.1	,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,	255/542,255/542	47570313	2,13002	2203	4299	6502	SO:0001587	stop_gained	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.763C>T	21.37:g.47570313G>A	ENSP00000291670:p.Arg255*		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Nonsense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.R255*	ENST00000291670.5	37	c.763	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437227	0.83885	2.27E-4	1.16E-4	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	.	.	.	4.83	0.896	0.19253	.	0.425256	0.26450	N	0.024310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9128	0.41417	0.1104:0.0:0.4836:0.406	.	.	.	.	X	255	.	ENSP00000291670:R255X	R	-	1	2	FTCD	46394741	1.000000	0.71417	0.982000	0.44146	0.287000	0.27160	1.712000	0.37940	-0.087000	0.12528	-1.051000	0.02340	CGA	FTCD	-	pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat		0.647	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	G	NM_006657		47570313	-1	no_errors	ENST00000359679	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	47570313	G	A	47570313	4	1	104	1	0	0	0	0	0	1	0	0	6099	1124	39	2	898	2	FTCD	21	47570313	Nonsense_Mutation	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	1558349	47570313	559582	63	15466										
TOM1	10043	genome.wustl.edu	37	chr22	35726358	35726358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aggagctcaaccgcacgtgcCgagccatgcagcagcgggtc	14	14	1	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:35726358C>G	ENST00000449058.2	+	8	909	c.784C>G	c.(784-786)Cga>Gga	p.R262G	TOM1_ENST00000436462.2_Missense_Mutation_p.R224G|TOM1_ENST00000447733.1_Missense_Mutation_p.R229G|TOM1_ENST00000425375.1_Missense_Mutation_p.R217G|TOM1_ENST00000411850.1_Missense_Mutation_p.R262G|TOM1_ENST00000382034.5_Missense_Mutation_p.R195G	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	262	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCACGTGCCGAGCCATGCA	0.537																																																	0													126	105	112					22																	35726358		2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.784C>G	22.37:g.35726358C>G	ENSP00000394466:p.Arg262Gly		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R262G	ENST00000449058.2	37	c.784	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	c	21.0	4.083250	0.76642	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.31	4.23	0.50019	GAT (2);	0.103239	0.64402	D	0.000007	T	0.68723	0.3032	M	0.82630	2.6	0.52099	D	0.999944	P;D;D;D;P	0.62365	0.946;0.966;0.991;0.958;0.941	P;P;D;P;P	0.68943	0.671;0.758;0.961;0.551;0.581	T	0.73773	-0.3877	10	0.87932	D	0	-2.2088	13.7111	0.62670	0.2254:0.7746:0.0:0.0	.	217;224;271;262;262	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	G	229;256;262;262;217;271;224;195	ENSP00000398876:R229G;ENSP00000393714:R256G;ENSP00000394466:R262G;ENSP00000413697:R262G;ENSP00000394924:R217G;ENSP00000402556:R224G;ENSP00000371465:R195G	ENSP00000371465:R195G	R	+	1	2	TOM1	34056358	0.998000	0.40836	0.998000	0.56505	0.999000	0.98932	1.951000	0.40333	2.644000	0.89710	0.645000	0.84053	CGA	TOM1	-	pfam_GAT,pirsf_TOM1,pfscan_GAT		0.537	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35726358	1	no_errors	ENST00000411850	ensembl	human	known	70_37	missense	SNP	0.988	G	G	35726358	C	G	35726358	3	3	104	1	0	0	0	0	1	0	0	0	16381	644	23	2	814	2	TOM1	22	35726358	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		35726358	15578208	64	15467										
PANX2	56666	genome.wustl.edu	37	chr22	50615969	50615969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ggtgcggggcccgcggtgcgCgtgagctgcaagctcccgtc	18	14	0	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:50615969C>T	ENST00000395842.2	+	2	828	c.828C>T	c.(826-828)cgC>cgT	p.R276R	PANX2_ENST00000159647.5_Silent_p.R276R	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	276					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGCGGTGCGCGTGAGCTGCA	0.667																																																	0													44	34	37					22																	50615969		2190	4299	6489	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.828C>T	22.37:g.50615969C>T			B7Z684|Q96RD5|Q9UGX8	Silent	SNP	pfam_Innexin,pfscan_Innexin	p.R276	ENST00000395842.2	37	c.828	CCDS14085.2	22																																																																																			PANX2	-	pfscan_Innexin		0.667	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	C	NM_052839		50615969	1	no_errors	ENST00000395842	ensembl	human	known	70_37	silent	SNP	0.987	T	T	50615969	C	T	50615969	2	4	104	1	0	0	0	0	0	0	0	1	11445	755	27	2		2	PANX2	22	50615969	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	14889611	50615969	688597	65	15468										
MAGEB1	4112	genome.wustl.edu	37	chrX	30268663	30268663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	tcgtgagaaacgccgcaaggCgcgagaggagacccagggtc	16	11	0	3	rs145867809		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:30268663C>T	ENST00000378981.3	+	4	374	c.53C>T	c.(52-54)gCg>gTg	p.A18V	MAGEB1_ENST00000397548.2_Missense_Mutation_p.A18V|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A18V	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	18										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGCCGCAAGGCGCGAGAGGAG	0.582																																																	0								C	VAL/ALA,VAL/ALA,VAL/ALA	2,3831		0,2,1629,571	42	33	36		53,53,53	1	0	X	dbSNP_134	36	0,6728		0,0,2428,1872	no	missense,missense,missense	MAGEB1	NM_002363.4,NM_177404.2,NM_177415.2	64,64,64	0,2,4057,2443	TT,TC,CC,C		0.0,0.0522,0.0189	possibly-damaging,possibly-damaging,possibly-damaging	18/348,18/348,18/348	30268663	2,10559	2202	4300	6502	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.53C>T	X.37:g.30268663C>T	ENSP00000368264:p.Ala18Val		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A18V	ENST00000378981.3	37	c.53	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882887	0.33255	5.22E-4	0.0	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.09723	2.95;2.95;2.95	3.99	1.03	0.20045	Melanoma associated antigen, MAGE, N-terminal (1);	0.912979	0.09201	N	0.834626	T	0.12220	0.0297	M	0.77820	2.39	0.09310	N	1	B	0.33807	0.426	B	0.31442	0.13	T	0.33675	-0.9859	10	0.48119	T	0.1	.	1.4961	0.02467	0.247:0.43:0.1958:0.1272	.	18	P43366	MAGB1_HUMAN	V	18	ENSP00000368264:A18V;ENSP00000380683:A18V;ENSP00000380681:A18V	ENSP00000368264:A18V	A	+	2	0	MAGEB1	30178584	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.086000	0.11233	0.073000	0.16731	-0.218000	0.12543	GCG	MAGEB1	-	pfam_Melanoma_ass_antigen_N		0.582	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	C	NM_002363		30268663	1	no_errors	ENST00000378981	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30268663	C	T	30268663	3	4	104	1	0	0	0	0	1	0	0	0	9195	768	27	2	55	2	MAGEB1	23	30268663	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09		30268663	125001897	66	15469										
CXorf27	25763	genome.wustl.edu	37	chrX	37850383	37850383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	aacaaccgtgagccccacagCgctgagagtgatgtgactcg	12	12	0	4	rs374389406		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:37850383C>T	ENST00000341016.3	+	1	314	c.291C>T	c.(289-291)agC>agT	p.S97S	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		97								p.S97S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGCCCCACAGCGCTGAGAGTG	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		0,3691		0,0,1560,571	101	106	104		291	-6.3	0	X		104	1,6606		0,1,2393,1819	no	coding-synonymous	CXorf27	NM_012274.1		0,1,3953,2390	TT,TC,CC,C		0.0151,0.0,0.0097		97/118	37850383	1,10297	2131	4213	6344	SO:0001819	synonymous_variant	25763																														ENST00000341016.3:c.291C>T	X.37:g.37850383C>T			A1A4D3	Silent	SNP	superfamily_Histone-fold	p.S97	ENST00000341016.3	37	c.291	CCDS43929.1	X																																																																																			CXorf27	-	superfamily_Histone-fold		0.527	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf27	HGNC	protein_coding	OTTHUMT00000080888.1	C			37850383	1	no_errors	ENST00000341016	ensembl	human	known	70_37	silent	SNP	0.000	T	T	37850383	C	T	37850383	2	4	104	1	0	0	0	0	0	0	0	1	4110	767	27	2		2	CXorf27	23	37850383	Silent	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	7581720	37850383	117420177	67	15470										
GATA1	2623	genome.wustl.edu	37	chrX	48652558	48652558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	cagcactactgtggtggctcCgctcagctcatgagggcaca	12	13	2	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:48652558C>T	ENST00000376670.3	+	6	1340	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	GATA1_ENST00000376665.3_Silent_p.S296S	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	410					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GTGGTGGCTCCGCTCAGCTCA	0.632			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								C|||	1	0.000264901	8e-04	0	3775	,	,		12496	0		0	False		,,,				2504	0				Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													19	20	20					X																	48652558		2188	4281	6469	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1229C>T	X.37:g.48652558C>T	ENSP00000365858:p.Pro410Leu		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P410L	ENST00000376670.3	37	c.1229	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195477	0.38806	.	.	ENSG00000102145	ENST00000376670	D	0.97976	-4.64	3.33	3.33	0.38152	.	0.202112	0.24730	U	0.036070	D	0.93106	0.7805	N	0.14661	0.345	0.80722	D	1	D	0.61697	0.99	B	0.43508	0.422	D	0.92764	0.6226	10	0.72032	D	0.01	-9.3607	9.2917	0.37791	0.0:1.0:0.0:0.0	.	410	P15976	GATA1_HUMAN	L	410	ENSP00000365858:P410L	ENSP00000365858:P410L	P	+	2	0	GATA1	48537502	0.497000	0.26067	0.951000	0.38953	0.051000	0.14879	4.468000	0.60162	1.932000	0.55993	0.351000	0.21866	CCG	GATA1	-	NULL		0.632	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	C	NM_002049		48652558	1	no_errors	ENST00000376670	ensembl	human	known	70_37	missense	SNP	0.975	T	T	48652558	C	T	48652558	3	4	104	1	0	0	0	0	1	0	0	0	6272	652	23	2	1247	2	GATA1	23	48652558	Missense_Mutation	SNP	C	TCGA-EK-A2R9-01A-11D-A18J-09	10802175	48652558	106618002	68	15471										
ATP2B3	492	genome.wustl.edu	37	chrX	152815583	152815583	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	ctgggcttcgtcttggacctGaagcgggacttccagcccgt	13	13	1	1			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:152815583G>A	ENST00000349466.2	+	11	1988	c.1662G>A	c.(1660-1662)ctG>ctA	p.L554L	ATP2B3_ENST00000393842.1_Silent_p.L540L|ATP2B3_ENST00000359149.3_Silent_p.L554L|ATP2B3_ENST00000263519.4_Silent_p.L554L|ATP2B3_ENST00000370186.1_Silent_p.L540L|ATP2B3_ENST00000370181.2_Silent_p.L540L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	554					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGACCTGAAGCGGGACT	0.597																																																	0													84	60	68					X																	152815583		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1662G>A	X.37:g.152815583G>A			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L554	ENST00000349466.2	37	c.1662	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152815583	1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	1.000	A	A	152815583	G	A	152815583	2	1	104	1	0	0	0	0	0	0	0	1	1142	1277	45	1		1	ATP2B3	23	152815583	Silent	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	104163025	152815583	2454977	69	15472										
GDI1	2664	genome.wustl.edu	37	chrX	153670141	153670141	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	0.471511493785744	1.18690629011553	2.70350877192982	1.06717451523546	0.160248447204969	0.380392156862746	0	accaggtcaacaggaagtcaGgtaggccgggcgctggtaca	15	10	2	0			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:153670141G>T	ENST00000447750.2	+	8	1326	c.991G>T	c.(991-993)Gac>Tac	p.D331Y	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	331					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGAAGTCAGGTAGGCCGGG	0.532																																																	0													105	92	97					X																	153670141		2203	4300	6503	SO:0001630	splice_region_variant	2664			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.991+1G>T	X.37:g.153670141G>T			P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.D331Y	ENST00000447750.2	37	c.991	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500679	0.85176	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.91351	-2.83	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97710	1.0190	10	0.87932	D	0	-14.3817	15.3157	0.74074	0.0:0.0:1.0:0.0	.	331	P31150	GDIA_HUMAN	Y	331;315	ENSP00000394071:D331Y	ENSP00000358756:D315Y	D	+	1	0	GDI1	153323335	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.760000	0.98935	2.207000	0.71202	0.436000	0.28706	GAC	GDI1	-	pfam_GDP_dissociation_inhibitor,prints_RabGDI		0.532	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	G	NM_001493	Missense_Mutation	153670141	1	no_errors	ENST00000447750	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153670141	G	T	153670141	5	4	104	1	0	0	0	0	0	0	1	0	6339	1014	35	4	1021	4	GDI1	23	153670141	Splice_Site	SNP	G	TCGA-EK-A2R9-01A-11D-A18J-09	854558	153670141	1600419	70	15473										
MMEL1	79258	genome.wustl.edu	37	chr1	2526265	2526265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tttcccgaagcttcctgaggCtccgctgggcgcccaccttg	11	16	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:2526265C>T	ENST00000378412.3	-	17	1813	c.1652G>A	c.(1651-1653)aGc>aAc	p.S551N	MMEL1_ENST00000288709.6_Missense_Mutation_p.S542N|MMEL1_ENST00000502556.1_Missense_Mutation_p.S394N			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	551						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTTCCTGAGGCTCCGCTGGGC	0.617																																																	0													74	79	77					1																	2526265		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1652G>A	1.37:g.2526265C>T	ENSP00000367668:p.Ser551Asn		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.S551N	ENST00000378412.3	37	c.1652	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579960	0.46006	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.81996	-1.56;-1.56;-1.56	4.91	3.98	0.46160	.	0.079815	0.85682	D	0.000000	T	0.69940	0.3167	L	0.28608	0.87	0.48288	D	0.999626	B	0.12630	0.006	B	0.14578	0.011	T	0.61983	-0.6950	10	0.07813	T	0.8	-53.711	11.7224	0.51689	0.0:0.9121:0.0:0.0879	.	551	Q495T6	MMEL1_HUMAN	N	394;542;551;394	ENSP00000288709:S542N;ENSP00000367668:S551N;ENSP00000422492:S394N	ENSP00000288709:S542N	S	-	2	0	MMEL1	2516125	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.181000	0.58303	2.419000	0.82065	0.655000	0.94253	AGC	MMEL1	-	NULL		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2526265	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2526265	C	T	2526265	3	4	105	1	0	0	0	0	1	0	0	0	9669	797	28	4	719	4	MMEL1	1	2526265	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		2526265	246724356	1	15474										
PER3	8863	genome.wustl.edu	37	chr1	7890188	7890188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccacggggtcacctcccagcGaatccccatccagaactggt	9	17	1	1	rs113009468	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:7890188G>A	ENST00000361923.2	+	18	3329	c.3154G>A	c.(3154-3156)Gaa>Aaa	p.E1052K	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.E1061K	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1052	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCCAGCGAATCCCCATC	0.532																																																	0								A	LYS/GLU	0,4406		0,0,2203	111	94	100		3154	1.2	0	1	dbSNP_132	100	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PER3	NM_016831.1	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1052/1202	7890188	3,13003	2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3154G>A	1.37:g.7890188G>A	ENSP00000355031:p.Glu1052Lys		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E1052K	ENST00000361923.2	37	c.3154	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	g	3.881	-0.026006	0.07589	0.0	3.49E-4	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.14640	2.49;2.49	2.17	1.24	0.21308	Period circadian-like, C-terminal (1);	10.663500	0.04599	U	0.398235	T	0.12263	0.0298	L	0.34521	1.04	0.09310	N	1	P;B;B;B;B	0.37914	0.611;0.088;0.088;0.072;0.088	B;B;B;B;B	0.38655	0.278;0.03;0.03;0.018;0.03	T	0.31696	-0.9934	10	0.33141	T	0.24	.	6.1906	0.20522	0.155:0.0:0.845:0.0	.	101;1052;1061;1061;1052	B4DR65;A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;.;PER3_HUMAN	K	1061;1052;245	ENSP00000366755:E1061K;ENSP00000355031:E1052K	ENSP00000355031:E1052K	E	+	1	0	PER3	7812775	0.024000	0.19004	0.000000	0.03702	0.001000	0.01503	0.402000	0.20965	0.140000	0.18849	-0.642000	0.03964	GAA	PER3	-	pfam_Period_circadian-like_C		0.532	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7890188	1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.005	A	A	7890188	G	A	7890188	3	1	105	1	0	0	0	0	1	0	0	0	11755	1059	37	1	3224	1	PER3	1	7890188	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	5363923	7890188	241360433	2	15475										
TNFRSF8	943	genome.wustl.edu	37	chr1	12202343	12202343	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acccatccttttgccttgcaGagaaaatctacatcatgaag	6	11	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:12202343G>A	ENST00000263932.2	+	15	1765		c.e15-1		TNFRSF8_ENST00000479933.2_Splice_Site|TNFRSF8_ENST00000413146.2_Splice_Site|TNFRSF8_ENST00000417814.2_Splice_Site	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8						cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TTGCCTTGCAGAGAAAATCTA	0.637																																																	0													12	12	12					1																	12202343		2188	4280	6468	SO:0001630	splice_region_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1544-1G>A	1.37:g.12202343G>A			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Splice_Site	SNP	-	e15-1	ENST00000263932.2	37	c.1544-1	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829587	0.71258	.	.	ENSG00000120949	ENST00000263932;ENST00000417814;ENST00000413146	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9994	0.71459	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNFRSF8	12124930	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.636000	0.54317	2.600000	0.87896	0.655000	0.94253	.	TNFRSF8	-	-		0.637	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G		Intron	12202343	1	no_errors	ENST00000263932	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	12202343	G	A	12202343	5	1	105	1	0	0	0	0	0	0	1	0	16329	956	33	1	1601	1	TNFRSF8	1	12202343	Splice_Site	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	4312155	12202343	237048278	3	15476										
ZBTB17	7709	genome.wustl.edu	37	chr1	16271698	16271698	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggcgggctccacctccatttCtgcggagaaaagggcaagca	13	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:16271698C>T	ENST00000375743.4	-	7	894		c.e7-1		ZBTB17_ENST00000375733.2_Splice_Site|ZBTB17_ENST00000537142.1_Splice_Site|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000448462.2_Splice_Site	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCATTTCTGCGGAGAAA	0.637																																																	0													54	45	48					1																	16271698		2123	4194	6317	SO:0001630	splice_region_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.662-1G>A	1.37:g.16271698C>T			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Splice_Site	SNP	-	e5-1	ENST00000375743.4	37	c.662-1	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151631	0.38021	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3448	0.66654	0.0:0.8516:0.1484:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB17	16144285	0.997000	0.39634	0.998000	0.56505	0.404000	0.30871	2.448000	0.44926	2.514000	0.84764	0.561000	0.74099	.	ZBTB17	-	-		0.637	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443	Intron	16271698	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	splice_site	SNP	0.970	T	T	16271698	C	T	16271698	5	4	105	1	0	0	0	0	0	0	1	0	17557	927	32	1	1790	1	ZBTB17	1	16271698	Splice_Site	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	4069355	16271698	232978923	4	15477										
ALDH4A1	8659	genome.wustl.edu	37	chr1	19216523	19216523	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	taccttttgcagggcatctcGctcagggctgccctgcgtga	12	13	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:19216523G>A	ENST00000375341.3	-	2	396	c.139C>T	c.(139-141)Cga>Tga	p.R47*	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000290597.5_Nonsense_Mutation_p.R47*|ALDH4A1_ENST00000538839.1_Nonsense_Mutation_p.R47*	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	47					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCATCTCGCTCAGGGCTG	0.652																																																	0													45	37	39					1																	19216523		2203	4299	6502	SO:0001587	stop_gained	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.139C>T	1.37:g.19216523G>A	ENSP00000364490:p.Arg47*		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.R47*	ENST00000375341.3	37	c.139	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574643	0.86542	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000375335;ENST00000432718	.	.	.	5.32	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4901	12.8559	0.57884	0.0:0.0:0.8367:0.1633	.	.	.	.	X	47	.	ENSP00000290597:R47X	R	-	1	2	ALDH4A1	19089110	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	4.500000	0.60387	1.371000	0.46172	0.558000	0.71614	CGA	ALDH4A1	-	superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.652	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	G			19216523	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	19216523	G	A	19216523	4	1	105	1	0	0	0	0	0	1	0	0	501	1095	38	2	1608	2	ALDH4A1	1	19216523	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2944825	19216523	230034098	5	15478										
NIPAL3	57185	genome.wustl.edu	37	chr1	24768628	24768628	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tggtggctgggcctgttcctGatgcttctgggcgagctggg	18	9	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:24768628G>A	ENST00000374399.4	+	4	614	c.246G>A	c.(244-246)ctG>ctA	p.L82L	NIPAL3_ENST00000358028.4_Silent_p.L82L|NIPAL3_ENST00000003912.3_De_novo_Start_InFrame|NIPAL3_ENST00000428131.1_Silent_p.L82L|NIPAL3_ENST00000339255.2_Silent_p.L82L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	82						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GCCTGTTCCTGATGCTTCTGG	0.587																																																	0													124	112	116					1																	24768628		2203	4300	6503	SO:0001819	synonymous_variant	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.246G>A	1.37:g.24768628G>A			A2A298|Q6MZT9|Q9BVE6	Silent	SNP	pfam_Mg_trans_NIPA	p.L82	ENST00000374399.4	37	c.246	CCDS30631.1	1																																																																																			NIPAL3	-	pfam_Mg_trans_NIPA		0.587	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	G	NM_020448		24768628	1	no_errors	ENST00000374399	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24768628	G	A	24768628	2	1	105	1	0	0	0	0	0	0	0	1	10450	1277	45	1		1	NIPAL3	1	24768628	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	5552105	24768628	224481993	6	15479										
SPOCD1	90853	genome.wustl.edu	37	chr1	32280449	32280449	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tctctggcctccctgggcctGaggcagctcacctcctccac	9	19	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:32280449G>C	ENST00000360482.2	-	2	615	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SPOCD1_ENST00000373648.2_Silent_p.L162L|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.L162L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	162					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCCTGGGCCTGAGGCAGCTCA	0.612																																																	0													61	64	63					1																	32280449		2201	4299	6500	SO:0001819	synonymous_variant	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.486C>G	1.37:g.32280449G>C			Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.L162	ENST00000360482.2	37	c.486	CCDS347.1	1																																																																																			SPOCD1	-	NULL		0.612	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	G	NM_144569		32280449	-1	no_errors	ENST00000360482	ensembl	human	known	70_37	silent	SNP	0.043	C	C	32280449	G	C	32280449	2	2	105	1	0	0	0	0	0	0	0	1	15108	1277	45	1		1	SPOCD1	1	32280449	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	7511821	32280449	216970172	7	15480										
CSMD2	114784	genome.wustl.edu	37	chr1	34204807	34204807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caggacgcaggtgatggtctCtgagccctgagtcccaagga	14	11	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:34204807C>T	ENST00000373381.4	-	15	2478	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	728	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGGTCTCTGAGCCCTGA	0.602																																																	0													64	59	61					1																	34204807		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2302G>A	1.37:g.34204807C>T	ENSP00000362479:p.Glu768Lys		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E768K	ENST00000373381.4	37	c.2302		1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035327	0.93630	.	.	ENSG00000121904	ENST00000373381	T	0.64618	-0.11	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.060191	0.64402	D	0.000002	T	0.69663	0.3136	L	0.43646	1.37	0.80722	D	1	P;B	0.37731	0.607;0.362	P;P	0.51945	0.61;0.685	T	0.58973	-0.7541	10	0.20046	T	0.44	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	728;768	Q7Z408;E7EUA6	CSMD2_HUMAN;.	K	768	ENSP00000362479:E768K	ENSP00000241312:E728K	E	-	1	0	CSMD2	33977394	1.000000	0.71417	0.974000	0.42286	0.841000	0.47740	6.107000	0.71517	2.941000	0.99782	0.655000	0.94253	GAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		C	NM_052896		34204807	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	0.998	T	T	34204807	C	T	34204807	3	4	105	1	0	0	0	0	1	0	0	0	3950	922	32	1	8501	1	CSMD2	1	34204807	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1924358	34204807	215045814	8	15481										
AKR1A1	10327	genome.wustl.edu	37	chr1	46032303	46032303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cacattgattgtgctgctatCtacggcaatgagcctgagat	10	9	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:46032303C>G	ENST00000372070.3	+	4	894	c.147C>G	c.(145-147)atC>atG	p.I49M	AKR1A1_ENST00000351829.4_Missense_Mutation_p.I49M|AKR1A1_ENST00000471651.1_Missense_Mutation_p.I49M	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	49					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GTGCTGCTATCTACGGCAATG	0.512																																																	0													126	114	118					1																	46032303		2203	4300	6503	SO:0001583	missense	10327			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.147C>G	1.37:g.46032303C>G	ENSP00000361140:p.Ile49Met		A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.I49M	ENST00000372070.3	37	c.147	CCDS523.1	1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395209	0.42512	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.24908	1.83;1.83;1.83	6.13	1.92	0.25849	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.357263	0.34828	N	0.003641	T	0.14141	0.0342	N	0.25992	0.78	0.41527	D	0.988432	B	0.09022	0.002	B	0.15870	0.014	T	0.12243	-1.0555	10	0.59425	D	0.04	.	2.1282	0.03743	0.2383:0.3997:0.2224:0.1397	.	49	P14550	AK1A1_HUMAN	M	49	ENSP00000361140:I49M;ENSP00000398414:I49M;ENSP00000312606:I49M	ENSP00000312606:I49M	I	+	3	3	AKR1A1	45804890	0.914000	0.31030	0.878000	0.34440	0.988000	0.76386	0.084000	0.14891	0.100000	0.17581	0.644000	0.83932	ATC	AKR1A1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.512	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	HGNC	protein_coding	OTTHUMT00000020851.1	C	NM_006066		46032303	1	no_errors	ENST00000351829	ensembl	human	known	70_37	missense	SNP	0.953	G	G	46032303	C	G	46032303	3	3	105	1	0	0	0	0	1	0	0	0	465	903	32	1	153	1	AKR1A1	1	46032303	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	11827496	46032303	203218318	9	15482										
IL23R	149233	genome.wustl.edu	37	chr1	67705952	67705952	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gattgggatatttaacagatCattccgaactgggtaggttt	11	5	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:67705952C>T	ENST00000347310.5	+	9	1307	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000395227.1_Missense_Mutation_p.S124L|IL23R_ENST00000473881.1_Intron|IL23R_ENST00000371002.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	379					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTAACAGATCATTCCGAACT	0.328																																																	0													176	157	164					1																	67705952		2203	4299	6502	SO:0001583	missense	149233			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1136C>T	1.37:g.67705952C>T	ENSP00000321345:p.Ser379Leu		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S379L	ENST00000347310.5	37	c.1136	CCDS637.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.00|17.00	3.277099|3.277099	0.59758|0.59758	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000425614|ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227	.|T;T	.|0.55760	.|0.93;0.5	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.555068	.|0.16543	.|N	.|0.209851	T|T	0.50343|0.50343	0.1610|0.1610	M|M	0.62723|0.62723	1.935|1.935	0.28835|0.28835	N|N	0.896946|0.896946	.|P;P;P;P;B;P;P;P;P	.|0.52842	.|0.956;0.573;0.956;0.893;0.16;0.649;0.873;0.956;0.775	.|P;B;P;P;B;B;B;P;B	.|0.51016	.|0.656;0.22;0.656;0.563;0.082;0.344;0.356;0.656;0.436	T|T	0.50110|0.50110	-0.8866|-0.8866	5|10	.|0.87932	.|D	.|0	-16.6382|-16.6382	14.4119|14.4119	0.67119|0.67119	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|125;203;203;137;208;233;286;124;379	.|Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5	.|.;.;.;.;.;.;.;.;IL23R_HUMAN	Y|L	141|379;208;137;124	.|ENSP00000321345:S379L;ENSP00000378652:S124L	.|ENSP00000321345:S379L	H|S	+|+	1|2	0|0	IL23R|IL23R	67478540|67478540	0.950000|0.950000	0.32346|0.32346	0.708000|0.708000	0.30435|0.30435	0.369000|0.369000	0.29798|0.29798	3.302000|3.302000	0.51849|0.51849	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CAT|TCA	IL23R	-	NULL		0.328	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	C	NM_144701		67705952	1	no_errors	ENST00000347310	ensembl	human	known	70_37	missense	SNP	0.676	T	T	67705952	C	T	67705952	3	4	105	1	0	0	0	0	1	0	0	0	7696	838	29	1	1166	1	IL23R	1	67705952	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	21673649	67705952	181544669	10	15483										
BARHL2	343472	genome.wustl.edu	37	chr1	91182630	91182630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtggcctgactcctaaaatcCgcggtcctggcctcaccgag	11	15	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:91182630C>T	ENST00000370445.4	-	1	164	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	41					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCCTAAAATCCGCGGTCCTGG	0.577																																					GBM(199;3561 4100 22440)												0													88	97	94					1																	91182630		2203	4300	6503	SO:0001819	synonymous_variant	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.123G>A	1.37:g.91182630C>T			A0AVP2|Q7Z4N7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A41	ENST00000370445.4	37	c.123	CCDS730.1	1																																																																																			BARHL2	-	NULL		0.577	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	C			91182630	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	91182630	C	T	91182630	2	4	105	1	0	0	0	0	0	0	0	1	1315	639	23	2		2	BARHL2	1	91182630	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	23476678	91182630	158067991	11	15484										
ABCA4	24	genome.wustl.edu	37	chr1	94564508	94564508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caggagggcctcgctgcaggCgatgtccttcagcgccaggt	15	13	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:94564508C>T	ENST00000370225.3	-	6	696	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A204T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	204					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGCTGCAGGCGATGTCCTTC	0.617																																																	0			GRCh37	CM070626	ABCA4	M							41	40	40					1																	94564508		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.610G>A	1.37:g.94564508C>T	ENSP00000359245:p.Ala204Thr		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.A204T	ENST00000370225.3	37	c.610	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899785	0.72754	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91351	-2.71;-2.83	5.83	5.83	0.93111	.	0.179711	0.48767	D	0.000161	D	0.91321	0.7263	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;P	0.64144	0.922;0.736	D	0.88471	0.3062	10	0.07030	T	0.85	.	17.9044	0.88914	0.0:1.0:0.0:0.0	.	204;204	F5H6E5;P78363	.;ABCA4_HUMAN	T	204	ENSP00000359245:A204T;ENSP00000437682:A204T	ENSP00000359245:A204T	A	-	1	0	ABCA4	94337096	1.000000	0.71417	0.981000	0.43875	0.930000	0.56654	7.449000	0.80643	2.757000	0.94681	0.563000	0.77884	GCC	ABCA4	-	tigrfam_Rim_ABC_transpt		0.617	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94564508	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94564508	C	T	94564508	3	4	105	1	0	0	0	0	1	0	0	0	34	768	27	2	6391	2	ABCA4	1	94564508	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3381878	94564508	154686113	12	15485										
SLC16A4	9122	genome.wustl.edu	37	chr1	110921794	110921794	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttctgcgtagtactgtccttGatggtagactcttctgtctc	9	10	4	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:110921794G>C	ENST00000369779.4	-	6	960	c.711C>G	c.(709-711)atC>atG	p.I237M	SLC16A4_ENST00000541986.1_Missense_Mutation_p.I175M|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I189M|SLC16A4_ENST00000437429.2_Missense_Mutation_p.I127M	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	237					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TACTGTCCTTGATGGTAGACT	0.433																																																	0													223	209	214					1																	110921794		2203	4300	6503	SO:0001583	missense	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.711C>G	1.37:g.110921794G>C	ENSP00000358794:p.Ile237Met		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I237M	ENST00000369779.4	37	c.711	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.938716	0.34189	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	T;T;T;T;T	0.34859	2.53;2.38;1.92;2.52;1.34	5.63	1.08	0.20341	Major facilitator superfamily domain, general substrate transporter (1);	2.550830	0.00841	N	0.001758	T	0.21267	0.0512	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.33919	0.108;0.074;0.432;0.074	B;B;B;B	0.43575	0.052;0.055;0.424;0.034	T	0.27971	-1.0058	10	0.35671	T	0.21	.	6.7999	0.23746	0.2933:0.1279:0.5788:0.0	.	127;175;189;237	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	M	237;189;127;175;4	ENSP00000358794:I237M;ENSP00000432495:I189M;ENSP00000394790:I127M;ENSP00000446087:I175M;ENSP00000435768:I4M	ENSP00000358794:I237M	I	-	3	3	SLC16A4	110723317	0.000000	0.05858	0.001000	0.08648	0.595000	0.36748	0.815000	0.27253	0.323000	0.23307	0.651000	0.88453	ATC	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.433	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	G	NM_004696		110921794	-1	no_errors	ENST00000369779	ensembl	human	known	70_37	missense	SNP	0.000	C	C	110921794	G	C	110921794	3	2	105	1	0	0	0	0	1	0	0	0	14440	1280	45	1	768	1	SLC16A4	1	110921794	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	16357286	110921794	138328827	13	15486										
CHIA	27159	genome.wustl.edu	37	chr1	111860363	111860363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acaagcccaggctgatggtcActgctgcagtagctgctggc	13	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:111860363A>C	ENST00000369740.1	+	7	644	c.541A>C	c.(541-543)Act>Cct	p.T181P	CHIA_ENST00000343320.6_Missense_Mutation_p.T181P|CHIA_ENST00000451398.2_Missense_Mutation_p.T20P|CHIA_ENST00000483391.1_Missense_Mutation_p.T20P|CHIA_ENST00000430615.1_Missense_Mutation_p.T73P|CHIA_ENST00000353665.6_Missense_Mutation_p.T20P|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	181					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCTGATGGTCACTGCTGCAGT	0.483																																																	0													99	84	89					1																	111860363		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.541A>C	1.37:g.111860363A>C	ENSP00000358755:p.Thr181Pro		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.T181P	ENST00000369740.1	37	c.541	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530110	0.64860	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94	4.22	4.22	0.49857	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000012	T	0.38480	0.1042	H	0.97962	4.115	0.47065	D	0.999306	D	0.76494	0.999	D	0.78314	0.991	T	0.59247	-0.7490	10	0.87932	D	0	-27.9935	11.5544	0.50739	1.0:0.0:0.0:0.0	.	181	Q9BZP6	CHIA_HUMAN	P	125;20;181;181;20;20;20;73	ENSP00000387671:T125P;ENSP00000436946:T20P;ENSP00000358755:T181P;ENSP00000341828:T181P;ENSP00000390476:T20P;ENSP00000338970:T20P;ENSP00000433309:T20P;ENSP00000391132:T73P	ENSP00000341828:T181P	T	+	1	0	CHIA	111661886	1.000000	0.71417	0.976000	0.42696	0.944000	0.59088	2.680000	0.46918	1.680000	0.50976	0.460000	0.39030	ACT	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.483	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1	A			111860363	1	no_errors	ENST00000343320	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111860363	A	C	111860363	3	2	105	1	0	0	0	0	1	0	0	0	3347	159	6	5	563	5	CHIA	1	111860363	Missense_Mutation	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	938569	111860363	137390258	14	15487										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144911895	144911895	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tacttacctaatgtggatctGggtatgctgacatcctcttt	8	9	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:144911895G>C	ENST00000369354.3	-	16	2403	c.2214C>G	c.(2212-2214)ccC>ccG	p.P738P	PDE4DIP_ENST00000369349.3_Silent_p.P738P|PDE4DIP_ENST00000369359.4_Silent_p.P875P|PDE4DIP_ENST00000529945.1_Silent_p.P901P|PDE4DIP_ENST00000530740.1_Silent_p.P875P|PDE4DIP_ENST00000479408.2_Silent_p.P525P|PDE4DIP_ENST00000313431.9_Silent_p.P901P|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000313382.9_Silent_p.P804P|PDE4DIP_ENST00000369356.4_Silent_p.P738P|PDE4DIP_ENST00000369351.3_Silent_p.P738P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	738					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTGGATCTGGGTATGCTGA	0.373			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													235	219	224					1																	144911895		2203	4300	6503	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2214C>G	1.37:g.144911895G>C			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.P738	ENST00000369354.3	37	c.2214	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.373	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144911895	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.649	C	C	144911895	G	C	144911895	2	2	105	1	0	0	0	0	0	0	0	1	11667	1335	47	4		4	PDE4DIP	1	144911895	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	33051532	144911895	104338726	15	15488										
FLG	2312	genome.wustl.edu	37	chr1	152287815	152287815	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cttcaggatttgccgaaattCcttttccagaagttccttca	6	11	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:152287815C>G	ENST00000368799.1	-	2	153	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAAATTCCTTTTCCAGA	0.328									Ichthyosis																																								0													175	179	178					1																	152287815		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.118G>C	1.37:g.152287815C>G	ENSP00000357789:p.Glu40Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E40Q	ENST00000368799.1	37	c.118	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563022	0.27915	.	.	ENSG00000143631	ENST00000368799	T	0.27890	1.64	5.2	1.07	0.20283	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.39091	0.1065	M	0.89658	3.05	0.09310	N	1	P	0.47484	0.896	P	0.56788	0.806	T	0.24404	-1.0161	9	0.87932	D	0	-16.2742	8.5295	0.33326	0.0:0.4669:0.4489:0.0842	.	40	P20930	FILA_HUMAN	Q	40	ENSP00000357789:E40Q	ENSP00000357789:E40Q	E	-	1	0	FLG	150554439	0.070000	0.21116	0.001000	0.08648	0.001000	0.01503	0.731000	0.26058	0.047000	0.15862	-1.113000	0.02065	GAA	FLG	-	pfam_S100_Ca-bd_sub		0.328	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152287815	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.002	G	G	152287815	C	G	152287815	3	3	105	1	0	0	0	0	1	0	0	0	5940	864	30	1	12075	1	FLG	1	152287815	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7375920	152287815	96962806	16	15489										
KCNN3	3782	genome.wustl.edu	37	chr1	154687452	154687452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atagattaaccatgtttcccGaaggacattggctgcagcat	9	9	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:154687452G>A	ENST00000271915.4	-	6	2044	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	KCNN3_ENST00000358505.2_Missense_Mutation_p.R264W|KCNN3_ENST00000361147.4_Missense_Mutation_p.R272W	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	582	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CATGTTTCCCGAAGGACATTG	0.403																																																	0													208	183	192					1																	154687452		2203	4300	6503	SO:0001583	missense	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1729C>T	1.37:g.154687452G>A	ENSP00000271915:p.Arg577Trp		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.R577W	ENST00000271915.4	37	c.1729	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128461	0.77549	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.26067	1.76;1.76;1.76	5.42	5.42	0.78866	Calmodulin-binding domain (2);	0.000000	0.53938	D	0.000056	T	0.53110	0.1776	M	0.87269	2.87	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.59674	-0.7410	10	0.87932	D	0	-31.081	19.0127	0.92881	0.0:0.0:1.0:0.0	.	582;272	Q9UGI6;Q9UGI6-2	KCNN3_HUMAN;.	W	272;577;264	ENSP00000354764:R272W;ENSP00000271915:R577W;ENSP00000351295:R264W	ENSP00000271915:R577W	R	-	1	2	KCNN3	152954076	0.997000	0.39634	0.990000	0.47175	0.987000	0.75469	2.593000	0.46180	2.824000	0.97209	0.492000	0.49549	CGG	KCNN3	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom		0.403	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154687452	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	missense	SNP	0.994	A	A	154687452	G	A	154687452	3	1	105	1	0	0	0	0	1	0	0	0	8100	1057	37	1	478	1	KCNN3	1	154687452	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2399637	154687452	94563169	17	15490										
RHBG	57127	genome.wustl.edu	37	chr1	156354578	156354578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctgccttccaggtgcctggcGagcatgaggataaagcccag	13	12	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:156354578G>A	ENST00000368249.1	+	10	1357	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	RHBG_ENST00000400992.2_Missense_Mutation_p.R408Q|RHBG_ENST00000368246.2_Missense_Mutation_p.E439K|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000255013.3_Missense_Mutation_p.R371Q	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	440					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R440Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGTGCCTGGCGAGCATGAGGA	0.602											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											48	56	53					1																	156354578		2001	4156	6157	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1319G>A	1.37:g.156354578G>A	ENSP00000357232:p.Arg440Gln	1777	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.E439K	ENST00000368249.1	37	c.1315		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.561|9.561	1.118492|1.118492	0.20877|0.20877	.|.	.|.	ENSG00000132677|ENSG00000132677	ENST00000368246|ENST00000368249;ENST00000400992;ENST00000255013	T|T;T;T	0.19532|0.24538	2.14|2.04;1.85;1.87	5.55|5.55	2.46|2.46	0.29980|0.29980	.|.	.|0.567013	.|0.17914	.|N	.|0.157760	T|T	0.02649|0.02649	0.0080|0.0080	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;B	.|0.39071	.|0.658;0.305	.|B;B	.|0.26310	.|0.068;0.031	T|T	0.40117|0.40117	-0.9580|-0.9580	7|10	0.54805|0.16896	T|T	0.06|0.51	-15.2438|-15.2438	8.5837|8.5837	0.33644|0.33644	0.0:0.3185:0.5169:0.1646|0.0:0.3185:0.5169:0.1646	.|.	.|408;477	.|Q9H310-3;Q5SZW5	.|.;.	K|Q	439|440;408;371	ENSP00000357229:E439K|ENSP00000357232:R440Q;ENSP00000383777:R408Q;ENSP00000255013:R371Q	ENSP00000357229:E439K|ENSP00000255013:R371Q	E|R	+|+	1|2	0|0	RHBG|RHBG	154621202|154621202	0.176000|0.176000	0.23096|0.23096	0.046000|0.046000	0.18839|0.18839	0.117000|0.117000	0.20001|0.20001	2.039000|2.039000	0.41193|0.41193	0.702000|0.702000	0.31825|0.31825	-0.225000|-0.225000	0.12378|0.12378	GAG|CGA	RHBG	-	NULL		0.602	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	G	NM_001256395		156354578	1	no_errors	ENST00000368246	ensembl	human	known	70_37	missense	SNP	0.010	A	A	156354578	G	A	156354578	3	1	105	1	0	0	0	0	1	0	0	0	13354	1059	37	1	1357	1	RHBG	1	156354578	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1667126	156354578	92896043	18	15491										
IQGAP3	128239	genome.wustl.edu	37	chr1	156508623	156508623	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcgctgccctgtctgggcctCagtctggttgatccagttct	12	13	4	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:156508623C>G	ENST00000361170.2	-	26	3269	c.3259G>C	c.(3259-3261)Gag>Cag	p.E1087Q	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1087	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCTGGGCCTCAGTCTGGTTG	0.547																																																	0													102	86	91					1																	156508623		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3259G>C	1.37:g.156508623C>G	ENSP00000354451:p.Glu1087Gln		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.E1087Q	ENST00000361170.2	37	c.3259	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739813	0.89573	.	.	ENSG00000183856	ENST00000361170	T	0.80994	-1.44	4.71	4.71	0.59529	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.87381	2.88	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.91249	0.5028	10	0.87932	D	0	-25.2449	16.3785	0.83418	0.0:1.0:0.0:0.0	.	1087	Q86VI3	IQGA3_HUMAN	Q	1087	ENSP00000354451:E1087Q	ENSP00000354451:E1087Q	E	-	1	0	IQGAP3	154775247	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	7.647000	0.83462	2.434000	0.82447	0.591000	0.81541	GAG	IQGAP3	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.547	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	C	NM_178229		156508623	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156508623	C	G	156508623	3	3	105	1	0	0	0	0	1	0	0	0	7836	835	29	1	1688	1	IQGAP3	1	156508623	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	154045	156508623	92741998	19	15492										
C1orf129	80133	genome.wustl.edu	37	chr1	170993874	170993874	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aagatgaaaattacagttttGagatggtggtgctcaatatc	10	4	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:170993874G>C	ENST00000367759.4	+	19	2300	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	TTACAGTTTTGAGATGGTGGT	0.338																																																	0													71	62	65					1																	170993874		692	1590	2282	SO:0001583	missense	80133			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.2146G>C	1.37:g.170993874G>C	ENSP00000356733:p.Glu716Gln		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E716Q	ENST00000367759.4	37	c.2146	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217832	0.58560	.	.	ENSG00000117501	ENST00000367759	T	0.64803	-0.12	5.51	5.51	0.81932	.	.	.	.	.	T	0.57460	0.2055	L	0.29908	0.895	0.29402	N	0.86185	D	0.89917	1.0	D	0.87578	0.998	T	0.50566	-0.8813	9	0.20046	T	0.44	.	15.2722	0.73712	0.0:0.0:1.0:0.0	.	716	F5GWX6	.	Q	716	ENSP00000356733:E716Q	ENSP00000356733:E716Q	E	+	1	0	C1orf129	169260498	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.895000	0.48648	2.736000	0.93811	0.655000	0.94253	GAG	C1orf129	-	superfamily_ARM-type_fold		0.338	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf129	HGNC	protein_coding		G	NM_025063		170993874	1	no_errors	ENST00000367759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170993874	G	C	170993874	3	2	105	1	0	0	0	0	1	0	0	0	2001	1291	45	1	2342	1	C1orf129	1	170993874	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	14485251	170993874	78256747	20	15493										
PAPPA2	60676	genome.wustl.edu	37	chr1	176762738	176762738	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgtaatcccccccagtgaccCcgtgatgctacctgagaata	8	14	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:176762738C>G	ENST00000367662.3	+	20	6227	c.5063C>G	c.(5062-5064)cCc>cGc	p.P1688R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1688	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGTGACCCCGTGATGCTA	0.478																																																	0													189	187	188					1																	176762738		1979	4157	6136	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5063C>G	1.37:g.176762738C>G	ENSP00000356634:p.Pro1688Arg		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P1688R	ENST00000367662.3	37	c.5063	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113421	0.56398	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	5.17	5.17	0.71159	.	0.124423	0.56097	D	0.000038	T	0.08088	0.0202	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.01652	-1.1303	10	0.66056	D	0.02	-13.0916	15.5755	0.76380	0.0:1.0:0.0:0.0	.	1688	Q9BXP8	PAPP2_HUMAN	R	1688	ENSP00000356634:P1688R	ENSP00000356634:P1688R	P	+	2	0	PAPPA2	175029361	0.889000	0.30405	0.040000	0.18447	0.579000	0.36224	5.426000	0.66476	2.404000	0.81709	0.655000	0.94253	CCC	PAPPA2	-	NULL		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	C			176762738	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.728	G	G	176762738	C	G	176762738	3	3	105	1	0	0	0	0	1	0	0	0	11457	623	22	4	5190	4	PAPPA2	1	176762738	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5768864	176762738	72487883	21	15494										
KDM5B	10765	genome.wustl.edu	37	chr1	202743752	202743752	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gctctttaccttattaagctGaaataagtccaagatcttcc	5	10	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:202743752G>A	ENST00000367265.3	-	3	1558	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q132*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	132	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTATTAAGCTGAAATAAGTCC	0.338																																																	0													85	85	85					1																	202743752		2203	4299	6502	SO:0001587	stop_gained	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.394C>T	1.37:g.202743752G>A	ENSP00000356234:p.Gln132*		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.Q132*	ENST00000367265.3	37	c.394	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.079741	0.94050	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	.	.	.	5.36	5.36	0.76844	.	0.161147	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.8234	19.0886	0.93217	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000356233:Q132X	Q	-	1	0	KDM5B	201010375	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.150000	0.71801	2.504000	0.84457	0.557000	0.71058	CAG	KDM5B	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.338	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	G	NM_006618		202743752	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	202743752	G	A	202743752	4	1	105	1	0	0	0	0	0	1	0	0	8154	1299	45	1	4340	1	KDM5B	1	202743752	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	25981014	202743752	46506869	22	15495										
CYB5R1	51706	genome.wustl.edu	37	chr1	202936328	202936328	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gagggtcttaccgtctggatCcccatgacggagcgcctttt	12	12	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:202936328C>T	ENST00000367249.4	-	1	80	c.6G>A	c.(4-6)ggG>ggA	p.G2G	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	2					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	CCGTCTGGATCCCCATGACGG	0.687																																																	0													41	35	37					1																	202936328		2203	4300	6503	SO:0001819	synonymous_variant	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.6G>A	1.37:g.202936328C>T			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.G2	ENST00000367249.4	37	c.6	CCDS1431.1	1																																																																																			CYB5R1	-	NULL		0.687	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	C	NM_016243		202936328	-1	no_errors	ENST00000367249	ensembl	human	known	70_37	silent	SNP	0.787	T	T	202936328	C	T	202936328	2	4	105	1	0	0	0	0	0	0	0	1	4131	842	30	1		1	CYB5R1	1	202936328	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	192576	202936328	46314293	23	15496										
TRIM11	81559	genome.wustl.edu	37	chr1	228589841	228589841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	catctgcttccggagatgctCcagtgacttctccagcttcg	9	14	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:228589841C>G	ENST00000284551.6	-	2	708	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	TRIM11_ENST00000366699.3_Missense_Mutation_p.E144Q|TRIM11_ENST00000493030.2_Missense_Mutation_p.E19Q|TRIM11_ENST00000460651.1_5'Flank	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CGGAGATGCTCCAGTGACTTC	0.617																																																	0													73	62	66					1																	228589841		2203	4300	6503	SO:0001583	missense	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.430G>C	1.37:g.228589841C>G	ENSP00000284551:p.Glu144Gln		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E144Q	ENST00000284551.6	37	c.430	CCDS31048.1	1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726955	0.69074	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.57907	0.37;0.37	4.56	4.56	0.56223	.	0.314642	0.22966	N	0.053486	T	0.59032	0.2164	L	0.43701	1.375	0.30366	N	0.783308	P;D;B	0.62365	0.906;0.991;0.107	P;P;B	0.62382	0.668;0.901;0.065	T	0.55075	-0.8197	10	0.19590	T	0.45	.	13.2353	0.59967	0.0:1.0:0.0:0.0	.	144;144;144	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	Q	144	ENSP00000284551:E144Q;ENSP00000355660:E144Q	ENSP00000284551:E144Q	E	-	1	0	TRIM11	226656464	0.987000	0.35691	1.000000	0.80357	0.583000	0.36354	3.098000	0.50259	2.241000	0.73720	0.557000	0.71058	GAG	TRIM11	-	NULL		0.617	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	HGNC	protein_coding	OTTHUMT00000095995.3	C	NM_145214		228589841	-1	no_errors	ENST00000284551	ensembl	human	known	70_37	missense	SNP	1.000	G	G	228589841	C	G	228589841	3	3	105	1	0	0	0	0	1	0	0	0	16518	864	30	1	996	1	TRIM11	1	228589841	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	25653513	228589841	20660780	24	15497										
URB2	9816	genome.wustl.edu	37	chr1	229773070	229773070	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttttggaagtgatttctgccTtacagctggacagcctcttg	10	9	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:229773070T>C	ENST00000258243.2	+	4	2846	c.2710T>C	c.(2710-2712)Tta>Cta	p.L904L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	904						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GATTTCTGCCTTACAGCTGGA	0.507																																																	0													191	183	186					1																	229773070		2203	4300	6503	SO:0001819	synonymous_variant	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2710T>C	1.37:g.229773070T>C			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.L904	ENST00000258243.2	37	c.2710	CCDS31052.1	1																																																																																			URB2	-	NULL		0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	T	NM_014777		229773070	1	no_errors	ENST00000258243	ensembl	human	known	70_37	silent	SNP	0.018	C	C	229773070	T	C	229773070	2	2	105	1	0	0	0	0	0	0	0	1	17056	1606	56	5		5	URB2	1	229773070	Silent	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	1183229	229773070	19477551	25	15498										
URB2	9816	genome.wustl.edu	37	chr1	229773087	229773087	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gccttacagctggacagcctCttgccaccctatcatgtgca	8	15	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr1:229773087C>G	ENST00000258243.2	+	4	2863	c.2727C>G	c.(2725-2727)ctC>ctG	p.L909L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	909						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGACAGCCTCTTGCCACCCT	0.507																																																	0													214	205	208					1																	229773087		2203	4300	6503	SO:0001819	synonymous_variant	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2727C>G	1.37:g.229773087C>G			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.L909	ENST00000258243.2	37	c.2727	CCDS31052.1	1																																																																																			URB2	-	NULL		0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	C	NM_014777		229773087	1	no_errors	ENST00000258243	ensembl	human	known	70_37	silent	SNP	0.143	G	G	229773087	C	G	229773087	2	3	105	1	0	0	0	0	0	0	0	1	17056	900	32	1		1	URB2	1	229773087	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	17	229773087	19477534	26	15499										
NCOA1	8648	genome.wustl.edu	37	chr2	24927964	24927964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtttgaaacagtgatgactcGtggcactgcctccagcccct	10	13	0	3	rs377618248		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:24927964G>A	ENST00000406961.1	+	12	1611	c.959G>A	c.(958-960)cGt>cAt	p.R320H	NCOA1_ENST00000538539.1_Missense_Mutation_p.R320H|NCOA1_ENST00000405141.1_Missense_Mutation_p.R320H|NCOA1_ENST00000348332.3_Missense_Mutation_p.R320H|NCOA1_ENST00000288599.5_Missense_Mutation_p.R320H|NCOA1_ENST00000407230.1_Missense_Mutation_p.R169H|NCOA1_ENST00000395856.3_Missense_Mutation_p.R320H			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	320					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATGACTCGTGGCACTGCC	0.423			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	102	96	98		959,959,959	5.2	1	2		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	320/1442,320/1400,320/1441	24927964	1,13005	2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.959G>A	2.37:g.24927964G>A	ENSP00000385216:p.Arg320His		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.R320H	ENST00000406961.1	37	c.959	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727089	0.15439	0.0	1.16E-4	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	6.06	5.18	0.71444	.	0.142943	0.64402	D	0.000004	T	0.08891	0.0220	N	0.04636	-0.2	0.49915	D	0.999833	P;B;B;B	0.34662	0.462;0.04;0.404;0.13	B;B;B;B	0.31016	0.102;0.022;0.123;0.01	T	0.31364	-0.9946	10	0.25751	T	0.34	.	16.4705	0.84111	0.0:0.0:0.8677:0.1323	.	320;320;320;169	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	H	320;320;169;320;320;320;320	ENSP00000385216:R320H;ENSP00000385097:R320H;ENSP00000385195:R169H;ENSP00000444039:R320H;ENSP00000320940:R320H;ENSP00000288599:R320H;ENSP00000379197:R320H	ENSP00000288599:R320H	R	+	2	0	NCOA1	24781468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.629000	0.67798	1.549000	0.49425	0.650000	0.86243	CGT	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	G	NM_147223		24927964	1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24927964	G	A	24927964	3	1	105	1	0	0	0	0	1	0	0	0	10252	1145	40	2	989	2	NCOA1	2	24927964	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		24927964	218271409	27	15500										
XDH	7498	genome.wustl.edu	37	chr2	31570422	31570422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cattgaggtcagcgctgacaGaggcagccgtgggagaggtg	18	8	1	4			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:31570422G>A	ENST00000379416.3	-	29	3290	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1081					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGCGCTGACAGAGGCAGCCGT	0.582																																					Colon(66;682 1445 30109 40147)												0													93	95	94					2																	31570422		2203	4300	6503	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3242C>T	2.37:g.31570422G>A	ENSP00000368727:p.Ser1081Phe		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.S1081F	ENST00000379416.3	37	c.3242	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766794	0.69878	.	.	ENSG00000158125	ENST00000379416	T	0.71461	-0.57	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93632	0.6957	10	0.87932	D	0	.	19.7753	0.96389	0.0:0.0:1.0:0.0	.	1081	P47989	XDH_HUMAN	F	1081	ENSP00000368727:S1081F	ENSP00000368727:S1081F	S	-	2	0	XDH	31423926	1.000000	0.71417	0.905000	0.35620	0.039000	0.13416	9.812000	0.99227	2.753000	0.94483	0.655000	0.94253	TCT	XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH		0.582	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	G	NM_000379		31570422	-1	no_errors	ENST00000379416	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31570422	G	A	31570422	3	1	105	1	0	0	0	0	1	0	0	0	17457	942	33	1	791	1	XDH	2	31570422	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	6642458	31570422	211628951	28	15501										
BIRC6	57448	genome.wustl.edu	37	chr2	32743990	32743990	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gccagtctcaacaacattatCagatgttcttgacagagtgt	8	9	3	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:32743990C>T	ENST00000421745.2	+	57	11734	c.11600C>T	c.(11599-11601)tCa>tTa	p.S3867L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3867					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S3867L(1)|p.S3839L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAACATTATCAGATGTTCTT	0.353																																					Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - Missense(2)	breast(2)											82	76	78					2																	32743990		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11600C>T	2.37:g.32743990C>T	ENSP00000393596:p.Ser3867Leu		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S3867L	ENST00000421745.2	37	c.11600	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297190	0.81025	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.44	5.44	0.79542	.	0.134127	0.48286	D	0.000187	T	0.65668	0.2713	N	0.24115	0.695	0.52099	D	0.999949	B	0.20052	0.041	B	0.16289	0.015	T	0.62695	-0.6800	10	0.72032	D	0.01	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	3867	Q9NR09	BIRC6_HUMAN	L	3867	ENSP00000393596:S3867L	ENSP00000393596:S3867L	S	+	2	0	BIRC6	32597494	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.487000	0.81328	2.537000	0.85549	0.655000	0.94253	TCA	BIRC6	-	NULL		0.353	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32743990	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32743990	C	T	32743990	3	4	105	1	0	0	0	0	1	0	0	0	1439	838	29	1	11826	1	BIRC6	2	32743990	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1173568	32743990	210455383	29	15502										
RTN4	57142	genome.wustl.edu	37	chr2	55253894	55253894	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ataccttctggcgtactgggGaaagaagtatcatcattact	9	8	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:55253894G>A	ENST00000337526.6	-	3	1584	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	RTN4_ENST00000357376.3_Silent_p.F241F|RTN4_ENST00000394611.2_Silent_p.F241F|RTN4_ENST00000405240.1_Silent_p.F241F|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Silent_p.F215F|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Silent_p.F241F|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	447					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCGTACTGGGGAAAGAAGTAT	0.393																																																	0													221	211	214					2																	55253894		2203	4300	6503	SO:0001819	synonymous_variant	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1341C>T	2.37:g.55253894G>A			O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.F447	ENST00000337526.6	37	c.1341	CCDS42684.1	2																																																																																			RTN4	-	NULL		0.393	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	G			55253894	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	silent	SNP	0.931	A	A	55253894	G	A	55253894	2	1	105	1	0	0	0	0	0	0	0	1	13758	1165	41	1		1	RTN4	2	55253894	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	22509904	55253894	187945479	30	15503										
FBXO41	150726	genome.wustl.edu	37	chr2	73491453	73491453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cagcacccttgtccagactgCggggtggcgggccacgaagc	15	14	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:73491453C>T	ENST00000521871.1	-	6	2174	c.1759G>A	c.(1759-1761)Gca>Aca	p.A587T	FBXO41_ENST00000520530.2_Missense_Mutation_p.A587T|FBXO41_ENST00000295133.5_Missense_Mutation_p.A648T			Q8TF61	FBX41_HUMAN	F-box protein 41	587										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTCCAGACTGCGGGGTGGCGG	0.647																																																	0													47	53	51					2																	73491453		2164	4263	6427	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1759G>A	2.37:g.73491453C>T	ENSP00000428646:p.Ala587Thr		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.A648T	ENST00000521871.1	37	c.1942	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695523	0.88830	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.42131	0.98;0.98	5.15	5.15	0.70609	F-box domain, Skp2-like (1);	0.109289	0.64402	D	0.000008	T	0.53753	0.1816	L	0.33189	0.99	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.49615	-0.8921	10	0.40728	T	0.16	.	17.3587	0.87344	0.0:1.0:0.0:0.0	.	587	Q8TF61	FBX41_HUMAN	T	648;587	ENSP00000295133:A648T;ENSP00000428646:A587T	ENSP00000295133:A648T	A	-	1	0	FBXO41	73344961	1.000000	0.71417	0.383000	0.26132	0.936000	0.57629	5.902000	0.69869	2.677000	0.91161	0.561000	0.74099	GCA	FBXO41	-	superfamily_F-box_dom_cyclin-like		0.647	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	C			73491453	-1	no_errors	ENST00000295133	ensembl	human	known	70_37	missense	SNP	0.986	T	T	73491453	C	T	73491453	3	4	105	1	0	0	0	0	1	0	0	0	5768	768	27	2	900	2	FBXO41	2	73491453	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	18237559	73491453	169707920	31	15504										
KDM3A	55818	genome.wustl.edu	37	chr2	86709185	86709185	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acccgtaagcaacaacaattCtggtttcctccggaatctct	6	13	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:86709185C>G	ENST00000409556.1	+	18	3010	c.2645C>G	c.(2644-2646)tCt>tGt	p.S882C	KDM3A_ENST00000409064.1_Missense_Mutation_p.S882C|KDM3A_ENST00000312912.5_Missense_Mutation_p.S882C|KDM3A_ENST00000542128.1_Missense_Mutation_p.S830C			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	882					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AACAACAATTCTGGTTTCCTC	0.413																																					NSCLC(96;1150 1523 6936 46253 49736)												0													135	131	132					2																	86709185		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2645C>G	2.37:g.86709185C>G	ENSP00000386660:p.Ser882Cys		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S882C	ENST00000409556.1	37	c.2645	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372975	0.82573	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.8	5.8	0.92144	.	0.081321	0.52532	D	0.000062	T	0.71239	0.3316	L	0.51422	1.61	0.45806	D	0.998689	D;D	0.67145	0.996;0.992	D;P	0.63703	0.917;0.827	T	0.72418	-0.4300	10	0.87932	D	0	.	19.0588	0.93078	0.0:1.0:0.0:0.0	.	830;882	F5H070;Q9Y4C1	.;KDM3A_HUMAN	C	882;882;882;882;830	ENSP00000386660:S882C;ENSP00000323659:S882C;ENSP00000386516:S882C;ENSP00000438324:S830C	ENSP00000323659:S882C	S	+	2	0	KDM3A	86562696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.167000	0.64972	2.744000	0.94065	0.655000	0.94253	TCT	KDM3A	-	NULL		0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	C	NM_018433		86709185	1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86709185	C	G	86709185	3	3	105	1	0	0	0	0	1	0	0	0	8146	913	32	1	2707	1	KDM3A	2	86709185	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	13217732	86709185	156490188	32	15505										
TEKT4	150483	genome.wustl.edu	37	chr2	95542304	95542304	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cccaacacccccaggctgttGagtgaggtggaggagctgaa	14	11	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:95542304G>A	ENST00000295201.4	+	6	1235	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	366					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCAGGCTGTTGAGTGAGGTGG	0.612																																																	0													27	24	25					2																	95542304		2203	4300	6503	SO:0001819	synonymous_variant	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1098G>A	2.37:g.95542304G>A				Silent	SNP	pfam_Tektin,prints_Tektin	p.L366	ENST00000295201.4	37	c.1098	CCDS2005.1	2																																																																																			TEKT4	-	pfam_Tektin,prints_Tektin		0.612	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	HGNC	protein_coding	OTTHUMT00000252777.1	G	NM_144705		95542304	1	no_errors	ENST00000295201	ensembl	human	known	70_37	silent	SNP	0.962	A	A	95542304	G	A	95542304	2	1	105	1	0	0	0	0	0	0	0	1	15785	1281	45	1		1	TEKT4	2	95542304	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	8833119	95542304	147657069	33	15506										
ANKRD36	375248	genome.wustl.edu	37	chr2	97877440	97877440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggaagattctgttccgaataTggccacggaaaaaaaggatg	12	6	1	1	rs35711845	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:97877440T>C	ENST00000461153.2	+	58	3675	c.3431T>C	c.(3430-3432)aTg>aCg	p.M1144T	ANKRD36_ENST00000420699.2_Missense_Mutation_p.M1144T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1144										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTTCCGAATATGGCCACGGAA	0.338													.|||	1324	0.264377	0.0885	0.3602	5008	,	,		25668	0.1964		0.5129	False		,,,				2504	0.2485																0								T	THR/MET	250,1134		3,244,445	149	140	143		3431	-2.3	0	2	dbSNP_126	143	1583,1599		99,1385,107	yes	missense	ANKRD36	NM_001164315.1	81	102,1629,552	CC,CT,TT		49.7486,18.0636,40.1445	benign	1144/1942	97877440	1833,2733	692	1591	2283	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3431T>C	2.37:g.97877440T>C	ENSP00000419530:p.Met1144Thr		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1144T	ENST00000461153.2	37	c.3431	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	1.894	-0.454824	0.04540	0.180636	0.497486	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77229	-1.08;-1.08	1.17	-2.3	0.06785	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39941	-0.9589	8	0.23891	T	0.37	.	1.5487	0.02570	0.4242:0.0:0.2415:0.3342	rs35711845;rs62156172	1144	A6QL64	AN36A_HUMAN	T	1144;1144;404	ENSP00000419530:M1144T;ENSP00000391950:M1144T	ENSP00000391950:M1144T	M	+	2	0	ANKRD36	97241167	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.779000	0.26746	-0.591000	0.05859	-0.727000	0.03589	ATG	ANKRD36	-	NULL		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	T			97877440	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.000	C	C	97877440	T	C	97877440	3	2	105	1	0	0	0	0	1	0	0	0	665	1464	51	5	3661	5	ANKRD36	2	97877440	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	2335136	97877440	145321933	34	15507										
NCK2	8440	genome.wustl.edu	37	chr2	106471654	106471654	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tggcgggtgaggaacgcggcCaacaggacgggctatgtacc	17	10	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:106471654C>A	ENST00000233154.4	+	3	577	c.135C>A	c.(133-135)gcC>gcA	p.A45A	AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Silent_p.A45A|NCK2_ENST00000393349.2_Silent_p.A45A|NCK2_ENST00000451463.2_Silent_p.A45A|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	45	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGAACGCGGCCAACAGGACGG	0.587																																																	0													94	81	86					2																	106471654		2203	4300	6503	SO:0001819	synonymous_variant	8440			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.135C>A	2.37:g.106471654C>A			D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.A45	ENST00000233154.4	37	c.135	CCDS33266.1	2																																																																																			NCK2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain		0.587	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1	C	NM_003581		106471654	1	no_errors	ENST00000233154	ensembl	human	known	70_37	silent	SNP	1.000	A	A	106471654	C	A	106471654	2	1	105	1	0	0	0	0	0	0	0	1	10244	581	21	4		4	NCK2	2	106471654	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	8594214	106471654	136727719	35	15508										
CKAP2L	150468	genome.wustl.edu	37	chr2	113498516	113498516	+	Missense_Mutation	SNP	C	C	T													0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aagacaagacttcacagattCcatcttcttggccagctctt							TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:113498516C>T	ENST00000302450.6	-	8	1969	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	CKAP2L_ENST00000541405.1_Missense_Mutation_p.E466K|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	631						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTCACAGATTCCATCTTCTTG	0.418																																																	0													226	213	217					2																	113498516		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1891G>A	2.37:g.113498516C>T	ENSP00000305204:p.Glu631Lys		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.E631K	ENST00000302450.6	37	c.1891	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689122	0.29962	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.22539	1.95;1.95	4.9	4.02	0.46733	.	1.993500	0.02143	N	0.057349	T	0.30854	0.0778	L	0.47016	1.485	0.09310	N	1	P;P	0.44139	0.728;0.827	B;P	0.49192	0.346;0.602	T	0.14783	-1.0460	10	0.32370	T	0.25	-12.983	8.4938	0.33117	0.0:0.8977:0.0:0.1023	.	220;631	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	K	466;631	ENSP00000438763:E466K;ENSP00000305204:E631K	ENSP00000305204:E631K	E	-	1	0	CKAP2L	113214987	0.118000	0.22208	0.186000	0.23195	0.227000	0.25037	1.844000	0.39269	2.714000	0.92807	0.655000	0.94253	GAA	CKAP2L	-	NULL		0.418	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	C	NM_152515		113498516	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	missense	SNP	0.063	T	T	113498516	C	T	113498516	3	4	105	1	0	0	0	0	1	0	0	0	3448	864	30	1	354	1	CKAP2L	2	113498516	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7026862	113498516	129700857	36	15509	83	2								
CKAP2L	150468	genome.wustl.edu	37	chr2	113498523	113498523	+	Silent	SNP	C	C	T													0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gacttcacagattccatcttCttggccagctcttccactga							TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:113498523C>T	ENST00000302450.6	-	8	1962	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	CKAP2L_ENST00000541405.1_Silent_p.K463K|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	628						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTCCATCTTCTTGGCCAGCT	0.423																																																	0													207	195	199					2																	113498523		2203	4300	6503	SO:0001819	synonymous_variant	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1884G>A	2.37:g.113498523C>T			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	NULL	p.K628	ENST00000302450.6	37	c.1884	CCDS2100.1	2																																																																																			CKAP2L	-	NULL		0.423	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	C	NM_152515		113498523	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	silent	SNP	0.000	T	T	113498523	C	T	113498523	2	4	105	1	0	0	0	0	0	0	0	1	3448	912	32	1		1	CKAP2L	2	113498523	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7	113498523	129700850	37	15510	83	2								
PAX8	7849	genome.wustl.edu	37	chr2	113992973	113992973	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gggacctccctgtcgtacctGagaggagggcctggcccgtg	16	13	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:113992973G>C	ENST00000429538.3	-	9	1279	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.Q336E|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.Q336E|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	362					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGTCGTACCTGAGAGGAGGGC	0.667			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)			Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0													15	17	17					2																	113992973		1894	4105	5999	SO:0001587	stop_gained	7849			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1085C>G	2.37:g.113992973G>C	ENSP00000395498:p.Ser362*		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Nonsense_Mutation	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.S362*	ENST00000429538.3	37	c.1085	CCDS46398.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.484300|8.484300	0.98832|0.98832	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000348715;ENST00000263334|ENST00000429538	D;D|.	0.97114|.	-4.25;-4.25|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.415891	.|0.24727	.|N	.|0.036090	T|.	0.64103|.	0.2568|.	.|.	.|.	.|.	0.32831|0.32831	D|D	0.504078|0.504078	B|.	0.31817|.	0.341|.	B|.	0.31101|.	0.124|.	T|.	0.69745|.	-0.5062|.	8|.	0.38643|0.42905	T|T	0.18|0.14	.|.	17.5992|17.5992	0.88021|0.88021	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	336|.	Q06710-3|.	.|.	E|X	336|362	ENSP00000314750:Q336E;ENSP00000263334:Q336E|.	ENSP00000263334:Q336E|ENSP00000395498:S362X	Q|S	-|-	1|2	0|0	PAX8|PAX8	113709444|113709444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.019000|8.019000	0.88732|0.88732	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	CAG|TCA	PAX8	-	pfam_Pax2_C		0.667	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX8	HGNC	protein_coding	OTTHUMT00000250353.5	G			113992973	-1	no_errors	ENST00000429538	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	113992973	G	C	113992973	4	2	105	1	0	0	0	0	0	1	0	0	11509	1303	45	1	283	1	PAX8	2	113992973	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	494450	113992973	129206400	38	15511										
SCN7A	6332	genome.wustl.edu	37	chr2	167298100	167298100	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtctatgtggcagacaaattCttcataattcttaccaaaca	5	9	4	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:167298100C>G	ENST00000409855.1	-	14	2089	c.1963G>C	c.(1963-1965)Gaa>Caa	p.E655Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	655					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAGACAAATTCTTCATAATTC	0.443																																																	0													109	116	114					2																	167298100		2203	4300	6503	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1963G>C	2.37:g.167298100C>G	ENSP00000386796:p.Glu655Gln			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.E655Q	ENST00000409855.1	37	c.1963	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995017	0.35226	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98381	-4.9;-4.9	4.79	-5.86	0.02304	Ion transport (1);	2.153780	0.01766	N	0.030897	D	0.96297	0.8792	L	0.47716	1.5	0.09310	N	1	B	0.24043	0.096	B	0.31390	0.129	D	0.91464	0.5191	10	0.72032	D	0.01	.	8.5349	0.33357	0.0:0.2909:0.1107:0.5984	.	655	Q01118	SCN7A_HUMAN	Q	655	ENSP00000386796:E655Q;ENSP00000413699:E655Q	ENSP00000259060:E655Q	E	-	1	0	SCN7A	167006346	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-1.476000	0.01874	-0.964000	0.02622	GAA	SCN7A	-	pfam_Ion_trans_dom		0.443	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	C			167298100	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	0.000	G	G	167298100	C	G	167298100	3	3	105	1	0	0	0	0	1	0	0	0	13953	922	32	1	3133	1	SCN7A	2	167298100	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	53305127	167298100	75901273	39	15512										
TTC30A	92104	genome.wustl.edu	37	chr2	178482347	178482347	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caagtgatcagggcatctaaGaagtcatagagatagggtgt	13	5	3	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:178482347G>A	ENST00000355689.5	-	1	1347	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	361					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGCATCTAAGAAGTCATAGA	0.473																																																	0													124	129	127					2																	178482347		2203	4300	6503	SO:0001819	synonymous_variant	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1083C>T	2.37:g.178482347G>A			A8K8N0|Q8IVP2	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.F361	ENST00000355689.5	37	c.1083	CCDS2276.1	2																																																																																			TTC30A	-	NULL		0.473	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	G	NM_152275		178482347	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	silent	SNP	1.000	A	A	178482347	G	A	178482347	2	1	105	1	0	0	0	0	0	0	0	1	16729	933	33	1		1	TTC30A	2	178482347	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	11184247	178482347	64717026	40	15513										
ZC3H15	55854	genome.wustl.edu	37	chr2	187351166	187351166	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aaaaaggcggagcaaaaaaaGaaggagaagattatcgaagt	12	3	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:187351166G>C	ENST00000337859.6	+	1	284	c.57G>C	c.(55-57)aaG>aaC	p.K19N	ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	19					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			AGCAAAAAAAGAAGGAGAAGA	0.622																																																	0													59	75	70					2																	187351166		1899	4099	5998	SO:0001583	missense	55854				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.57G>C	2.37:g.187351166G>C	ENSP00000338788:p.Lys19Asn		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K19N	ENST00000337859.6	37	c.57	CCDS42791.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120725	0.77436	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.65364	-0.15	5.38	4.51	0.55191	.	0.171105	0.48767	D	0.000164	T	0.79713	0.4493	M	0.88775	2.98	0.80722	D	1	P	0.51653	0.947	D	0.67231	0.95	T	0.81844	-0.0746	10	0.66056	D	0.02	-11.0911	10.0723	0.42341	0.0923:0.0:0.9077:0.0	.	19	Q8WU90	ZC3HF_HUMAN	N	19	ENSP00000338788:K19N	ENSP00000338788:K19N	K	+	3	2	ZC3H15	187059411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.085000	0.57657	1.263000	0.44181	0.655000	0.94253	AAG	ZC3H15	-	NULL		0.622	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	G	NM_018471		187351166	1	no_errors	ENST00000337859	ensembl	human	known	70_37	missense	SNP	1.000	C	C	187351166	G	C	187351166	3	2	105	1	0	0	0	0	1	0	0	0	17597	933	33	1	59	1	ZC3H15	2	187351166	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	8868819	187351166	55848207	41	15514										
ABCA12	26154	genome.wustl.edu	37	chr2	215865463	215865463	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcagggataaggaattgcttGaacctggactgctatttcct	11	8	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:215865463G>A	ENST00000272895.7	-	22	3364	c.3145C>T	c.(3145-3147)Caa>Taa	p.Q1049*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Q731*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1049					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGAATTGCTTGAACCTGGACT	0.393																																					Ovarian(66;664 1488 5121 34295)												0													113	118	116					2																	215865463		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3145C>T	2.37:g.215865463G>A	ENSP00000272895:p.Gln1049*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q1049*	ENST00000272895.7	37	c.3145	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.970001	0.99021	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9082	0.97015	0.0:0.0:1.0:0.0	.	.	.	.	X	1049;731	.	ENSP00000272895:Q1049X	Q	-	1	0	ABCA12	215573708	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.582000	0.98214	2.705000	0.92388	0.555000	0.69702	CAA	ABCA12	-	NULL		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215865463	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	215865463	G	A	215865463	4	1	105	1	0	0	0	0	0	1	0	0	30	1299	45	1	4770	1	ABCA12	2	215865463	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	28514297	215865463	27333910	42	15515										
SPEG	10290	genome.wustl.edu	37	chr2	220342149	220342149	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtgaggtctcctgcaaagcaGagttggctgtgcattcaggt	14	8	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:220342149G>C	ENST00000312358.7	+	20	4843	c.4711G>C	c.(4711-4713)Gag>Cag	p.E1571Q	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1571	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCAAAGCAGAGTTGGCTGT	0.612																																																	0													32	38	36					2																	220342149		2082	4217	6299	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4711G>C	2.37:g.220342149G>C	ENSP00000311684:p.Glu1571Gln		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E1571Q	ENST00000312358.7	37	c.4711	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173472	0.78452	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.68765	-0.35	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.457119	0.16376	N	0.217101	T	0.73822	0.3636	N	0.25647	0.755	0.80722	D	1	D	0.56035	0.974	D	0.66351	0.943	T	0.76135	-0.3070	10	0.66056	D	0.02	.	19.0677	0.93119	0.0:0.0:1.0:0.0	.	1571	Q15772	SPEG_HUMAN	Q	1571	ENSP00000311684:E1571Q	ENSP00000265327:E1571Q	E	+	1	0	SPEG	220050393	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	9.613000	0.98350	2.506000	0.84524	0.655000	0.94253	GAG	SPEG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220342149	1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	220342149	G	C	220342149	3	2	105	1	0	0	0	0	1	0	0	0	15066	943	33	1	4801	1	SPEG	2	220342149	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	4476686	220342149	22857224	43	15516										
WDR69	164781	genome.wustl.edu	37	chr2	228786123	228786123	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tctcttttgcagatttctttCaaccctcaagggaaccatct	5	12	5	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:228786123C>T	ENST00000309931.2	+	12	1142	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	DAW1_ENST00000545118.1_Silent_p.F338F|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	353						cilium (GO:0005929)											AGATTTCTTTCAACCCTCAAG	0.393																																																	0													76	77	76					2																	228786123		2203	4300	6503	SO:0001819	synonymous_variant	164781				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1059C>T	2.37:g.228786123C>T			Q6ZRY1|Q8N776	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F353	ENST00000309931.2	37	c.1059	CCDS2470.1	2																																																																																			WDR69	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR69	HGNC	protein_coding	OTTHUMT00000331745.1	C	NM_178821		228786123	1	no_errors	ENST00000309931	ensembl	human	known	70_37	silent	SNP	1.000	T	T	228786123	C	T	228786123	2	4	105	1	0	0	0	0	0	0	0	1	17350	825	29	1		1	WDR69	2	228786123	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	8443974	228786123	14413250	44	15517										
SPHKAP	80309	genome.wustl.edu	37	chr2	228860311	228860311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agctgggtccagctgcctgtGctctcctcgctgctgcttgg	13	14	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:228860311G>T	ENST00000392056.3	-	8	4594	c.4548C>A	c.(4546-4548)agC>agA	p.S1516R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1516R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1516						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCTGCCTGTGCTCTCCTCGC	0.577																																																	0													147	126	133					2																	228860311		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4548C>A	2.37:g.228860311G>T	ENSP00000375909:p.Ser1516Arg		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.S1516R	ENST00000392056.3	37	c.4548	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047014	0.75846	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.36520	1.72;1.25	6.06	3.12	0.35913	.	0.209202	0.53938	D	0.000044	T	0.56307	0.1976	M	0.78637	2.42	0.45005	D	0.998029	D;D	0.89917	1.0;1.0	D;D	0.91635	0.973;0.999	T	0.56189	-0.8020	10	0.56958	D	0.05	.	8.5161	0.33246	0.275:0.0:0.725:0.0	.	1516;1516	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	1516	ENSP00000375909:S1516R;ENSP00000339886:S1516R	ENSP00000339886:S1516R	S	-	3	2	SPHKAP	228568555	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	2.843000	0.48238	0.791000	0.33826	0.655000	0.94253	AGC	SPHKAP	-	NULL		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228860311	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	1.000	T	T	228860311	G	T	228860311	3	4	105	1	0	0	0	0	1	0	0	0	15078	1310	46	4	574	4	SPHKAP	2	228860311	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	74188	228860311	14339062	45	15518										
ALPP	250	genome.wustl.edu	37	chr2	233244519	233244519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cacacgagtgcagcacgcctCgccagccggcacctacgccc	10	20	0	0	rs371726976		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:233244519C>T	ENST00000392027.2	+	5	799	c.530C>T	c.(529-531)tCg>tTg	p.S177L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	177					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCACGCCTCGCCAGCCGGC	0.642																																																	0								C	LEU/SER	1,4405		0,1,2202	60	59	59		530	2.3	1	2		59	0,8600		0,0,4300	no	missense	ALPP	NM_001632.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	177/536	233244519	1,13005	2203	4300	6503	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.530C>T	2.37:g.233244519C>T	ENSP00000375881:p.Ser177Leu		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.S177L	ENST00000392027.2	37	c.530	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	17.34	3.365036	0.61513	2.27E-4	0.0	ENSG00000163283	ENST00000392027	D	0.96685	-4.09	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	H	0.96547	3.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	.	12.9891	0.58608	0.0:1.0:0.0:0.0	.	177	P05187	PPB1_HUMAN	L	177	ENSP00000375881:S177L	ENSP00000375881:S177L	S	+	2	0	ALPP	232952763	1.000000	0.71417	0.984000	0.44739	0.215000	0.24574	5.387000	0.66243	1.289000	0.44618	0.298000	0.19748	TCG	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase		0.642	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	C	NM_001632		233244519	1	no_errors	ENST00000392027	ensembl	human	known	70_37	missense	SNP	1.000	T	T	233244519	C	T	233244519	3	4	105	1	0	0	0	0	1	0	0	0	548	893	31	1	548	1	ALPP	2	233244519	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	4384208	233244519	9954854	46	15519										
OR6B3	150681	genome.wustl.edu	37	chr2	240984708	240984708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gggaatcaatggcctggggcCggacatacatgaaaagcaag	14	8	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr2:240984708C>T	ENST00000319423.4	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCCTGGGGCCGGACATACAT	0.542																																																	0													86	94	91					2																	240984708		1970	4144	6114	SO:0001583	missense	150681				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"GPCR / Class A : Olfactory receptors"	15042	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 3 pseudogene"	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.782G>A	2.37:g.240984708C>T	ENSP00000322435:p.Arg261Gln		Q6IFH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R261Q	ENST00000319423.4	37	c.782	CCDS42837.1	2	.	.	.	.	.	.	.	.	.	.	c	16.12	3.033445	0.54896	.	.	ENSG00000178586	ENST00000319423	T	0.37235	1.21	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000722	T	0.35595	0.0937	L	0.45285	1.41	0.27927	N	0.938036	P	0.41393	0.748	B	0.44315	0.446	T	0.16748	-1.0392	10	0.27785	T	0.31	.	14.6272	0.68629	0.0:1.0:0.0:0.0	.	261	Q8NGW1	OR6B3_HUMAN	Q	261	ENSP00000322435:R261Q	ENSP00000322435:R261Q	R	-	2	0	OR6B3	240633381	0.001000	0.12720	0.795000	0.32087	0.535000	0.34838	0.146000	0.16180	2.540000	0.85666	0.603000	0.83216	CGG	OR6B3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B3	HGNC	protein_coding	OTTHUMT00000326078.1	C			240984708	-1	no_errors	ENST00000319423	ensembl	human	known	70_37	missense	SNP	0.936	T	T	240984708	C	T	240984708	3	4	105	1	0	0	0	0	1	0	0	0	11213	652	23	2	216	2	OR6B3	2	240984708	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7740189	240984708	2214665	47	15520										
ATP2B2	491	genome.wustl.edu	37	chr3	10413730	10413730	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	accaggttgttgtccttcatCattttctgggagaaggggca	12	8	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:10413730C>T	ENST00000352432.4	-	11	1491	c.1422G>A	c.(1420-1422)atG>atA	p.M474I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.M429I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.M474I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.M460I|ATP2B2_ENST00000397077.1_Missense_Mutation_p.M429I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	474					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTCCTTCATCATTTTCTGGG	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)												0													114	100	105					3																	10413730		2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1422G>A	3.37:g.10413730C>T	ENSP00000324172:p.Met474Ile		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.M474I	ENST00000352432.4	37	c.1422	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720292	0.68959	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	4.71	4.71	0.59529	ATPase, P-type, ATPase-associated domain (1);	0.126183	0.64402	D	0.000001	D	0.94712	0.8294	M	0.88241	2.94	0.80722	D	1	B;B;B	0.34290	0.002;0.447;0.332	B;P;B	0.46850	0.004;0.529;0.32	D	0.95529	0.8601	10	0.87932	D	0	-23.9341	17.8685	0.88803	0.0:1.0:0.0:0.0	.	409;441;474	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	I	474;429;429;474;460;409;330;474	ENSP00000324172:M474I;ENSP00000373311:M429I;ENSP00000380267:M429I;ENSP00000353414:M474I;ENSP00000344677:M460I;ENSP00000414854:M330I	ENSP00000342954:M474I	M	-	3	0	ATP2B2	10388730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.568000	0.82369	2.443000	0.82685	0.655000	0.94253	ATG	ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	C	NM_001683		10413730	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10413730	C	T	10413730	3	4	105	1	0	0	0	0	1	0	0	0	1141	826	29	1	2357	1	ATP2B2	3	10413730	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		10413730	187608700	48	15521										
TSEN2	80746	genome.wustl.edu	37	chr3	12544918	12544919	+	Missense_Mutation	DNP	GG	GG	AA													0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgcatgacaagcttaactctGgaatggtttccaacatggaa							TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:12544918_12544919GG>AA	ENST00000284995.6	+	5	853_854	c.466_467GG>AA	c.(466-468)GGa>AAa	p.G156K	TSEN2_ENST00000402228.3_Missense_Mutation_p.G156K|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000415684.1_Missense_Mutation_p.G156K|TSEN2_ENST00000444864.1_Missense_Mutation_p.G156K|TSEN2_ENST00000383797.5_Missense_Mutation_p.G156K|TSEN2_ENST00000454502.2_Missense_Mutation_p.G156K|TSEN2_ENST00000314571.7_Missense_Mutation_p.G156K	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	156					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GCTTAACTCTGGAATGGTTTCC	0.52																																																	0																																										SO:0001583	missense	80746			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	Exception_encountered	3.37:g.12544918_12544919delinsAA	ENSP00000284995:p.Gly156Lys		B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2	p.G156R|p.G156E	ENST00000284995.6	37	c.466|c.467	CCDS2611.1	3																																																																																			TSEN2	-	pirsf_tRNA_splic_SEN2		0.52	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN2	HGNC	protein_coding	OTTHUMT00000251981.1	G	NM_025265		12544918|12544919	1	no_errors	ENST00000284995	ensembl	human	known	70_37	missense	SNP	0.000	A	AA	12544919	GG	AA	12544918	3	1	105	1	0	0	0	0	1	0	0	0	16643	1349	47	4	480	4	TSEN2	3	12544918	Missense_Mutation	DNP	GG	TCGA-EK-A2RA-01A-11D-A18J-09	2131188	12544918	185477512	49	15522										
SLC6A6	6533	genome.wustl.edu	37	chr3	14499524	14499524	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctgaaatgggacctcgctctCtgccttcttttagtctggct	9	12	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:14499524C>G	ENST00000454876.2	+	6	995	c.666C>G	c.(664-666)ctC>ctG	p.L222L	SLC6A6_ENST00000360861.3_Silent_p.L222L|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	222					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ACCTCGCTCTCTGCCTTCTTT	0.562																																																	0													246	195	212					3																	14499524		2203	4300	6503	SO:0001819	synonymous_variant	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.666C>G	3.37:g.14499524C>G			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.L222	ENST00000454876.2	37	c.666	CCDS33705.1	3																																																																																			SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	C	NM_003043		14499524	1	no_errors	ENST00000360861	ensembl	human	known	70_37	silent	SNP	1.000	G	G	14499524	C	G	14499524	2	3	105	1	0	0	0	0	0	0	0	1	14718	900	32	1		1	SLC6A6	3	14499524	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1954606	14499524	183522906	50	15523										
ZNF501	115560	genome.wustl.edu	37	chr3	44776538	44776538	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	actcttcccttgttgaacatGaaaggactcacactggagag	9	10	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:44776538G>C	ENST00000396048.2	+	3	1062	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E209K(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TGTTGAACATGAAAGGACTCA	0.418																																																	1	Substitution - Missense(1)	lung(1)											72	76	74					3																	44776538		2129	4272	6401	SO:0001583	missense	115560			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.625G>C	3.37:g.44776538G>C	ENSP00000379363:p.Glu209Gln		B4DLY7|Q96NU9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E209Q	ENST00000396048.2	37	c.625	CCDS2720.2	3	.	.	.	.	.	.	.	.	.	.	G	0.632	-0.816803	0.02776	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.36157	1.27	2.94	0.851	0.18989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.03209	-0.39	0.09310	N	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.33523	-0.9865	9	0.02654	T	1	.	0.555	0.00669	0.2511:0.1896:0.3653:0.1941	.	209	Q96CX3	ZN501_HUMAN	Q	209;153	ENSP00000379363:E209Q	ENSP00000330388:E153Q	E	+	1	0	ZNF501	44751542	0.000000	0.05858	0.990000	0.47175	0.990000	0.78478	0.447000	0.21710	0.552000	0.29026	0.563000	0.77884	GAA	ZNF501	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4	G	NM_145044		44776538	1	no_errors	ENST00000396048	ensembl	human	known	70_37	missense	SNP	0.694	C	C	44776538	G	C	44776538	3	2	105	1	0	0	0	0	1	0	0	0	17979	1291	45	1	627	1	ZNF501	3	44776538	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	30277014	44776538	153245892	51	15524										
FYCO1	79443	genome.wustl.edu	37	chr3	46008029	46008029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgcctctttggcgtcctggaGctcctggacagcacaggcca	12	14	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:46008029G>T	ENST00000296137.2	-	8	3002	c.2797C>A	c.(2797-2799)Ctc>Atc	p.L933I	FYCO1_ENST00000535325.1_Missense_Mutation_p.L933I	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	933					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCGTCCTGGAGCTCCTGGACA	0.622																																																	0													57	56	56					3																	46008029		2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2797C>A	3.37:g.46008029G>T	ENSP00000296137:p.Leu933Ile		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.L933I	ENST00000296137.2	37	c.2797	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	G	9.722	1.160004	0.21454	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	D;D	0.84070	-1.8;-1.8	5.39	5.39	0.77823	.	0.137379	0.50627	D	0.000116	D	0.89462	0.6722	M	0.71581	2.175	0.09310	N	1	D;D	0.89917	1.0;0.966	D;P	0.80764	0.994;0.604	T	0.82723	-0.0316	10	0.52906	T	0.07	-14.1714	12.7055	0.57058	0.0785:0.0:0.9215:0.0	.	933;933	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	I	933	ENSP00000296137:L933I;ENSP00000441178:L933I	ENSP00000296137:L933I	L	-	1	0	FYCO1	45983033	1.000000	0.71417	0.993000	0.49108	0.041000	0.13682	4.275000	0.58927	2.535000	0.85469	0.655000	0.94253	CTC	FYCO1	-	NULL		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	G	NM_024513		46008029	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.074	T	T	46008029	G	T	46008029	3	4	105	1	0	0	0	0	1	0	0	0	6143	971	34	4	1683	4	FYCO1	3	46008029	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1231491	46008029	152014401	52	15525										
CCR1	1230	genome.wustl.edu	37	chr3	46244879	46244879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acaactgccgcaggtacttcCggaacctctcaccaacgaag	8	15	1	0	rs201235369		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:46244879C>T	ENST00000296140.3	-	2	1051	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	309					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGGTACTTCCGGAACCTCTC	0.582																																																	0													92	79	84					3																	46244879		2203	4300	6503	SO:0001583	missense	1230				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.926G>A	3.37:g.46244879C>T	ENSP00000296140:p.Arg309Gln		Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.R309Q	ENST00000296140.3	37	c.926	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629290	0.28978	.	.	ENSG00000163823	ENST00000296140	T	0.57273	0.41	5.41	0.3	0.15776	.	0.493976	0.19160	N	0.121220	T	0.36386	0.0965	L	0.39326	1.205	0.39492	D	0.968065	B	0.31227	0.314	B	0.24394	0.053	T	0.14200	-1.0481	10	0.52906	T	0.07	.	7.2574	0.26183	0.0:0.6185:0.1137:0.2678	.	309	P32246	CCR1_HUMAN	Q	309	ENSP00000296140:R309Q	ENSP00000296140:R309Q	R	-	2	0	CCR1	46219883	1.000000	0.71417	0.919000	0.36401	0.066000	0.16364	2.008000	0.40893	0.057000	0.16193	0.561000	0.74099	CGG	CCR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt		0.582	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	C	NM_001295		46244879	-1	no_errors	ENST00000296140	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46244879	C	T	46244879	3	4	105	1	0	0	0	0	1	0	0	0	2944	652	23	2	145	2	CCR1	3	46244879	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	236850	46244879	151777551	53	15526										
RAD54L2	23132	genome.wustl.edu	37	chr3	51671320	51671320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tggtgctgactgggtaccctCtgcaaaacaacctcattgag	10	11	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:51671320C>G	ENST00000409535.2	+	10	1608	c.1483C>G	c.(1483-1485)Ctg>Gtg	p.L495V	RAD54L2_ENST00000296477.3_Missense_Mutation_p.L189V	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	495	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGGTACCCTCTGCAAAACAA	0.562																																																	0													80	66	71					3																	51671320		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1483C>G	3.37:g.51671320C>G	ENSP00000386520:p.Leu495Val		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L495V	ENST00000409535.2	37	c.1483	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.34|18.34	3.602368|3.602368	0.66445|0.66445	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93307|.	-3.2;-3.2|.	5.31|5.31	4.3|4.3	0.51218|0.51218	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56731|0.56731	0.2005|0.2005	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.97110|.	1.0;0.971|.	T|T	0.52624|0.52624	-0.8551|-0.8551	10|5	0.66056|.	D|.	0.02|.	-8.1768|-8.1768	7.9054|7.9054	0.29759|0.29759	0.0:0.785:0.0:0.215|0.0:0.785:0.0:0.215	.|.	495;86|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	V|C	495;189|323	ENSP00000386520:L495V;ENSP00000296477:L189V|.	ENSP00000296477:L189V|.	L|S	+|+	1|2	2|0	RAD54L2|RAD54L2	51646360|51646360	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.256000|3.256000	0.51492|0.51492	0.992000|0.992000	0.38840|0.38840	0.561000|0.561000	0.74099|0.74099	CTG|TCT	RAD54L2	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.562	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	C	NM_015106		51671320	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	0.999	G	G	51671320	C	G	51671320	3	3	105	1	0	0	0	0	1	0	0	0	13024	912	32	1	1517	1	RAD54L2	3	51671320	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5426441	51671320	146351110	54	15527										
CACNA2D3	55799	genome.wustl.edu	37	chr3	54798357	54798357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gagcatgatgtggtgtggacCgaagcttacattgacagcac	13	8	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:54798357C>T	ENST00000474759.1	+	13	1407	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	CACNA2D3_ENST00000490478.1_Silent_p.T359T|CACNA2D3_ENST00000288197.5_Silent_p.T453T|CACNA2D3_ENST00000415676.2_Silent_p.T453T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	453	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGGTGTGGACCGAAGCTTACA	0.507																																																	0													105	102	103					3																	54798357		2055	4199	6254	SO:0001819	synonymous_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1359C>T	3.37:g.54798357C>T			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T453	ENST00000474759.1	37	c.1359	CCDS54598.1	3																																																																																			CACNA2D3	-	pfam_Cache_domain		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			54798357	1	no_errors	ENST00000288197	ensembl	human	known	70_37	silent	SNP	0.007	T	T	54798357	C	T	54798357	2	4	105	1	0	0	0	0	0	0	0	1	2555	639	23	2		2	CACNA2D3	3	54798357	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3127037	54798357	143224073	55	15528										
ABI3BP	25890	genome.wustl.edu	37	chr3	100645270	100645270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggacttggacgcaagaacttCaagaggatggagtcacttgt	13	7	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:100645270C>G	ENST00000284322.5	-	2	265	c.156G>C	c.(154-156)ttG>ttC	p.L52F	ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L52F|ABI3BP_ENST00000471714.1_Missense_Mutation_p.L52F	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	52					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAAGAACTTCAAGAGGATGG	0.448																																																	0													205	199	201					3																	100645270		1981	4154	6135	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.156G>C	3.37:g.100645270C>G	ENSP00000284322:p.Leu52Phe		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L52F	ENST00000284322.5	37	c.156	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082387	0.76528	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.32023	1.68;1.47	5.55	4.68	0.58851	.	0.092507	0.64402	D	0.000001	T	0.35393	0.0930	N	0.12182	0.205	0.80722	D	1	D;D;D	0.71674	0.981;0.998;0.986	P;D;P	0.69654	0.621;0.965;0.738	T	0.35599	-0.9782	10	0.62326	D	0.03	-5.1364	12.9936	0.58634	0.0:0.9217:0.0:0.0783	.	45;52;52	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	F	52	ENSP00000420524:L52F;ENSP00000284322:L52F	ENSP00000284322:L52F	L	-	3	2	ABI3BP	102127960	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.740000	0.47418	1.352000	0.45808	0.650000	0.86243	TTG	ABI3BP	-	NULL		0.448	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	C			100645270	-1	no_errors	ENST00000284322	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100645270	C	G	100645270	3	3	105	1	0	0	0	0	1	0	0	0	91	825	29	1	3207	1	ABI3BP	3	100645270	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	45846913	100645270	97377160	56	15529										
BOC	91653	genome.wustl.edu	37	chr3	112992158	112992158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acgaggttgggagcgcccatGccgtagtccagctgcggacc	15	13	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:112992158G>T	ENST00000495514.1	+	8	1908	c.1204G>T	c.(1204-1206)Gcc>Tcc	p.A402S	BOC_ENST00000355385.3_Missense_Mutation_p.A402S|BOC_ENST00000273395.4_Missense_Mutation_p.A402S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	402	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GAGCGCCCATGCCGTAGTCCA	0.597																																																	0													33	24	27					3																	112992158		2195	4288	6483	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1204G>T	3.37:g.112992158G>T	ENSP00000418663:p.Ala402Ser		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A402S	ENST00000495514.1	37	c.1204	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531439	0.27387	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.68181	-0.31;-0.31;-0.31	5.66	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	N	0.05351	-0.065	0.58432	D	0.999997	B;B	0.27791	0.189;0.115	B;B	0.41174	0.237;0.349	T	0.50767	-0.8789	10	0.16896	T	0.51	.	16.0274	0.80553	0.0:0.0:0.8645:0.1355	.	402;402	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	S	402	ENSP00000418663:A402S;ENSP00000273395:A402S;ENSP00000347546:A402S	ENSP00000273395:A402S	A	+	1	0	BOC	114474848	1.000000	0.71417	0.065000	0.19835	0.034000	0.12701	9.198000	0.94994	1.378000	0.46305	0.655000	0.94253	GCC	BOC	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	G	NM_033254		112992158	1	no_errors	ENST00000273395	ensembl	human	known	70_37	missense	SNP	0.999	T	T	112992158	G	T	112992158	3	4	105	1	0	0	0	0	1	0	0	0	1482	1319	46	4	1226	4	BOC	3	112992158	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	12346888	112992158	85030272	57	15530										
SEMA5B	54437	genome.wustl.edu	37	chr3	122634439	122634439	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgccatggtgaccatgggccGaagcccccatcccgtgtcac	11	16	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:122634439G>A	ENST00000357599.3	-	14	2222	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SEMA5B_ENST00000195173.4_Silent_p.F612F|SEMA5B_ENST00000451055.2_Silent_p.F666F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	612					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ACCATGGGCCGAAGCCCCCAT	0.577																																																	0													60	58	59					3																	122634439		2203	4300	6503	SO:0001819	synonymous_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1836C>T	3.37:g.122634439G>A			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.F666	ENST00000357599.3	37	c.1998	CCDS35491.1	3																																																																																			SEMA5B	-	superfamily_Thrombospondin_1_rpt		0.577	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	G	NM_001031702		122634439	-1	no_errors	ENST00000451055	ensembl	human	known	70_37	silent	SNP	0.966	A	A	122634439	G	A	122634439	2	1	105	1	0	0	0	0	0	0	0	1	14068	1049	37	1		1	SEMA5B	3	122634439	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	9642281	122634439	75387991	58	15531										
ALG1L	200810	genome.wustl.edu	37	chr3	125649457	125649457	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aggccattttcttcatgtttCaccagctcatgtaaactgca	6	11	4	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:125649457C>T	ENST00000340333.3	-	5	454	c.291G>A	c.(289-291)gtG>gtA	p.V97V	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	97							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CTTCATGTTTCACCAGCTCAT	0.597																																																	0													51	55	53					3																	125649457		1368	2309	3677	SO:0001819	synonymous_variant	200810			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.291G>A	3.37:g.125649457C>T			D3DNA5	Silent	SNP	NULL	p.V97	ENST00000340333.3	37	c.291	CCDS33840.1	3																																																																																			ALG1L	-	NULL		0.597	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1L	HGNC	protein_coding	OTTHUMT00000356347.1	C	NM_001015050		125649457	-1	no_errors	ENST00000340333	ensembl	human	known	70_37	silent	SNP	1.000	T	T	125649457	C	T	125649457	2	4	105	1	0	0	0	0	0	0	0	1	517	813	29	1		1	ALG1L	3	125649457	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3015018	125649457	72372973	59	15532										
MED12L	116931	genome.wustl.edu	37	chr3	151105723	151105723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gaccgaagagtgatcaagtaCgaggagcagcatcacctcct	11	11	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:151105723C>T	ENST00000474524.1	+	35	5147	c.5109C>T	c.(5107-5109)taC>taT	p.Y1703Y	MED12L_ENST00000273432.4_Silent_p.Y1563Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1703						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y1703Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATCAAGTACGAGGAGCAGC	0.592																																																	1	Substitution - coding silent(1)	ovary(1)											126	101	109					3																	151105723		2203	4300	6503	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5109C>T	3.37:g.151105723C>T			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.Y1703	ENST00000474524.1	37	c.5109	CCDS33876.1	3																																																																																			MED12L	-	NULL		0.592	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151105723	1	no_errors	ENST00000474524	ensembl	human	known	70_37	silent	SNP	0.205	T	T	151105723	C	T	151105723	2	4	105	1	0	0	0	0	0	0	0	1	9452	547	19	2		2	MED12L	3	151105723	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	25456266	151105723	46916707	60	15533										
UTS2D	257313	genome.wustl.edu	37	chr3	190993043	190993043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cttgaaatgaaagcttacctCgtttgctaggatgagaagag	11	6	0	4	rs150179146	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:190993043C>A	ENST00000340524.5	-	8	1118	c.332G>T	c.(331-333)cGa>cTa	p.R111L	UTS2B_ENST00000427544.2_Missense_Mutation_p.R111L	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	111					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											AAGCTTACCTCGTTTGCTAGG	0.368																																																	0													160	163	162					3																	190993043		2203	4300	6503	SO:0001583	missense	257313			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"Endogenous ligands"	30894	protein-coding gene	gene with protein product	"prepro-URP"		"urotensin 2 domain containing"	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.332G>T	3.37:g.190993043C>A	ENSP00000340526:p.Arg111Leu		B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	NULL	p.R111L	ENST00000340524.5	37	c.332	CCDS3300.1	3	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924565	0.34002	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.55052	0.54;0.54	4.78	1.8	0.24995	.	0.173078	0.27262	N	0.020163	T	0.54902	0.1887	L	0.36672	1.1	0.48288	D	0.999627	D	0.71674	0.998	D	0.68483	0.958	T	0.54214	-0.8327	10	0.72032	D	0.01	-4.1104	5.4902	0.16771	0.0:0.6435:0.0:0.3565	.	111	Q765I0	UTS2B_HUMAN	L	111	ENSP00000340526:R111L;ENSP00000398761:R111L	ENSP00000340526:R111L	R	-	2	0	UTS2D	192475737	0.007000	0.16637	0.958000	0.39756	0.032000	0.12392	-0.708000	0.05035	0.627000	0.30340	0.591000	0.81541	CGA	UTS2D	-	NULL		0.368	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2D	HGNC	protein_coding	OTTHUMT00000343353.1	C	NM_198152		190993043	-1	no_errors	ENST00000446788	ensembl	human	known	70_37	missense	SNP	0.965	A	A	190993043	C	A	190993043	3	1	105	1	0	0	0	0	1	0	0	0	17136	884	31	3	35	3	UTS2D	3	190993043	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	39887320	190993043	7029387	61	15534										
TNK2	10188	genome.wustl.edu	37	chr3	195608929	195608929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acctgcccctcaccaggcgaAgggcaccttgcgatgttcct	10	16	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr3:195608929A>G	ENST00000333602.6	-	6	1497	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	TNK2_ENST00000468819.1_Intron|TNK2_ENST00000428187.1_Missense_Mutation_p.F326L|TNK2_ENST00000316664.3_Missense_Mutation_p.F294L|TNK2_ENST00000392400.1_Missense_Mutation_p.F294L|TNK2_ENST00000381916.2_Missense_Mutation_p.F357L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CACCAGGCGAAGGGCACCTTG	0.602																																																	0													80	61	67					3																	195608929		2203	4300	6503	SO:0001583	missense	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.880T>C	3.37:g.195608929A>G	ENSP00000329425:p.Phe294Leu		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F357L	ENST00000333602.6	37	c.1069	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979523	0.92982	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	N	0.01742	-0.745	0.80722	D	1	P;D;D;P	0.76494	0.801;0.999;0.998;0.956	P;D;D;P	0.73380	0.566;0.98;0.92;0.766	T	0.83097	-0.0130	10	0.72032	D	0.01	.	13.7443	0.62865	1.0:0.0:0.0:0.0	.	170;294;357;326	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	L	294;357;326;294;294	ENSP00000329425:F294L;ENSP00000371341:F357L;ENSP00000392546:F326L;ENSP00000376201:F294L;ENSP00000323216:F294L	ENSP00000323216:F294L	F	-	1	0	TNK2	197093326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.598000	0.90852	2.181000	0.69327	0.533000	0.62120	TTC	TNK2	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.602	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	A	NM_005781		195608929	-1	no_errors	ENST00000381916	ensembl	human	known	70_37	missense	SNP	1.000	G	G	195608929	A	G	195608929	3	3	105	1	0	0	0	0	1	0	0	0	16348	72	3	5	2325	5	TNK2	3	195608929	Missense_Mutation	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	4615886	195608929	2413501	62	15535										
ADD1	118	genome.wustl.edu	37	chr4	2906520	2906520	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	actggctacccttatcgataCcctgctctgagagagaagtc	9	12	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:2906520C>A	ENST00000398129.1	+	9	1211	c.1191C>A	c.(1189-1191)taC>taA	p.Y397*	ADD1_ENST00000398123.2_Nonsense_Mutation_p.Y397*|ADD1_ENST00000264758.7_Nonsense_Mutation_p.Y397*|ADD1_ENST00000503455.2_Nonsense_Mutation_p.Y397*|ADD1_ENST00000513328.2_Nonsense_Mutation_p.Y397*|ADD1_ENST00000398125.1_Nonsense_Mutation_p.Y397*|ADD1_ENST00000355842.3_Nonsense_Mutation_p.Y397*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Y397*			P35611	ADDA_HUMAN	adducin 1 (alpha)	397					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTATCGATACCCTGCTCTGA	0.463																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													106	101	103					4																	2906520		2203	4300	6503	SO:0001587	stop_gained	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1191C>A	4.37:g.2906520C>A	ENSP00000381197:p.Tyr397*		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Nonsense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Y397*	ENST00000398129.1	37	c.1191	CCDS43205.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.290145|12.290145	0.99654|0.99654	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000514940|ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.048164	.|0.85682	.|D	.|0.000000	T|.	0.46151|.	0.1378|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50808|.	-0.8784|.	3|.	.|0.13470	.|T	.|0.59	-20.513|-20.513	12.4247|12.4247	0.55540|0.55540	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	.|.	.|.	.|.	N|X	103|397	.|.	.|ENSP00000264758:Y397X	T|Y	+|+	2|3	0|2	ADD1|ADD1	2876318|2876318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.741000|2.741000	0.47426|0.47426	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	ACC|TAC	ADD1	-	NULL		0.463	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2906520	1	no_errors	ENST00000264758	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	2906520	C	A	2906520	4	1	105	1	0	0	0	0	0	1	0	0	304	518	18	4	1225	4	ADD1	4	2906520	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		2906520	188247756	63	15536										
BOD1L	259282	genome.wustl.edu	37	chr4	13606480	13606480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttcggtgcaaatttctgagcGttctacttgcctttttacat	7	9	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:13606480G>A	ENST00000040738.5	-	10	2179	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	682	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R682C(1)									ATTTCTGAGCGTTCTACTTGC	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											264	278	273					4																	13606480		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2044C>T	4.37:g.13606480G>A	ENSP00000040738:p.Arg682Cys		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R682C	ENST00000040738.5	37	c.2044	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705713	0.30232	.	.	ENSG00000038219	ENST00000040738	T	0.10668	2.85	5.71	3.8	0.43715	.	0.158511	0.30252	N	0.010050	T	0.06645	0.0170	L	0.27053	0.805	0.21652	N	0.999608	B	0.30179	0.271	B	0.19148	0.024	T	0.28427	-1.0044	10	0.87932	D	0	-0.8342	6.2574	0.20881	0.0968:0.0:0.5953:0.3079	.	682	Q8NFC6	BOD1L_HUMAN	C	682	ENSP00000040738:R682C	ENSP00000040738:R682C	R	-	1	0	BOD1L	13215578	0.801000	0.28930	0.171000	0.22900	0.105000	0.19272	2.639000	0.46570	1.408000	0.46895	0.563000	0.77884	CGC	BOD1L1	-	NULL		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	G	NM_148894		13606480	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.295	A	A	13606480	G	A	13606480	3	1	105	1	0	0	0	0	1	0	0	0	1484	1145	40	2	7179	2	BOD1L	4	13606480	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	10699960	13606480	177547796	64	15537										
LDB2	9079	genome.wustl.edu	37	chr4	16590439	16590439	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aggtgaactccaagatcagtCtgccttctgtacatacctgg	9	11	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:16590439C>G	ENST00000304523.5	-	4	748	c.425G>C	c.(424-426)aGa>aCa	p.R142T	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Missense_Mutation_p.R18T|LDB2_ENST00000515064.1_Missense_Mutation_p.R142T|LDB2_ENST00000441778.2_Missense_Mutation_p.R142T|LDB2_ENST00000502640.1_Missense_Mutation_p.R142T	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	142					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CAAGATCAGTCTGCCTTCTGT	0.443																																																	0													201	171	181					4																	16590439		2203	4300	6503	SO:0001583	missense	9079			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.425G>C	4.37:g.16590439C>G	ENSP00000306772:p.Arg142Thr		O60619|O75480	Missense_Mutation	SNP	NULL	p.R142T	ENST00000304523.5	37	c.425	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.935570|4.935570	0.92458|0.92458	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178;ENST00000506732	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.83454|0.83454	0.5258|0.5258	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.985;1.0;0.999;0.997;0.996;0.995	.|D;D;D;D;D;D;D	.|0.91635	.|0.999;0.966;0.992;0.958;0.958;0.998;0.996	T|T	0.82112|0.82112	-0.0618|-0.0618	5|9	.|0.31617	.|T	.|0.26	-5.5168|-5.5168	18.4277|18.4277	0.90614|0.90614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|18;108;142;142;142;142;118	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	H|T	64|142;142;142;142;18;118	.|.	.|ENSP00000306772:R142T	D|R	-|-	1|2	0|0	LDB2|LDB2	16199537|16199537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	GAC|AGA	LDB2	-	NULL		0.443	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	C			16590439	-1	no_errors	ENST00000304523	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16590439	C	G	16590439	3	3	105	1	0	0	0	0	1	0	0	0	8716	913	32	1	825	1	LDB2	4	16590439	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2983959	16590439	174563837	65	15538										
PDHA2	5161	genome.wustl.edu	37	chr4	96761857	96761857	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtaaatataaaggaaacgatGagatctgtttgactttatat	8	3	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:96761857G>T	ENST00000295266.4	+	1	619	c.556G>T	c.(556-558)Gag>Tag	p.E186*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	186					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGGAAACGATGAGATCTGTTT	0.478																																																	0													62	67	65					4																	96761857		2203	4300	6503	SO:0001587	stop_gained	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.556G>T	4.37:g.96761857G>T	ENSP00000295266:p.Glu186*		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.E186*	ENST00000295266.4	37	c.556	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812902	0.50527	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.77	2.04	0.26737	.	0.108661	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-23.425	6.3823	0.21542	0.176:0.1573:0.6667:0.0	.	.	.	.	X	186	.	ENSP00000295266:E186X	E	+	1	0	PDHA2	96980880	0.990000	0.36364	0.001000	0.08648	0.196000	0.23810	2.035000	0.41155	0.304000	0.22809	0.467000	0.42956	GAG	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.478	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	G			96761857	1	no_errors	ENST00000295266	ensembl	human	known	70_37	nonsense	SNP	0.182	T	T	96761857	G	T	96761857	4	4	105	1	0	0	0	0	0	1	0	0	11689	1291	45	3	558	3	PDHA2	4	96761857	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	80171418	96761857	94392419	66	15539										
GAR1	54433	genome.wustl.edu	37	chr4	110739145	110739145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acatagtttgtaaatgtaccAcagatgaaaataaggtgcct	8	6	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:110739145A>G	ENST00000226796.6	+	3	532	c.268A>G	c.(268-270)Aca>Gca	p.T90A	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Missense_Mutation_p.T90A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	90					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAAATGTACCACAGATGAAAA	0.333																																																	0													132	128	129					4																	110739145		2203	4300	6503	SO:0001583	missense	54433			AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.268A>G	4.37:g.110739145A>G	ENSP00000226796:p.Thr90Ala		Q5MJQ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.T90A	ENST00000226796.6	37	c.268	CCDS34050.1	4	.	.	.	.	.	.	.	.	.	.	A	16.21	3.057944	0.55325	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	4.94	4.94	0.65067	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.25789	0.76	0.54753	D	0.999982	B;B	0.33777	0.371;0.425	B;B	0.41946	0.239;0.371	T	0.36504	-0.9745	9	0.06757	T	0.87	.	14.9009	0.70678	1.0:0.0:0.0:0.0	.	90;90	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	A	90	.	ENSP00000226796:T90A	T	+	1	0	GAR1	110958594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.965000	0.76067	1.975000	0.57531	0.533000	0.62120	ACA	GAR1	-	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel		0.333	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GAR1	HGNC	protein_coding	OTTHUMT00000363810.2	A			110739145	1	no_errors	ENST00000226796	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110739145	A	G	110739145	3	3	105	1	0	0	0	0	1	0	0	0	6259	159	6	5	274	5	GAR1	4	110739145	Missense_Mutation	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	13977288	110739145	80415131	67	15540										
TNIP3	79931	genome.wustl.edu	37	chr4	122071296	122071296	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	catttctgttctcatctcctCatggcagaattccactcgag	6	13	4	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:122071296C>T	ENST00000509841.1	-	9	880	c.802G>A	c.(802-804)Gag>Aag	p.E268K	TNIP3_ENST00000511909.1_5'Flank|TNIP3_ENST00000057513.3_Missense_Mutation_p.E191K|TNIP3_ENST00000454328.1_Missense_Mutation_p.E191K|TNIP3_ENST00000507879.1_Missense_Mutation_p.E261K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCATCTCCTCATGGCAGAAT	0.438																																																	0													117	99	105					4																	122071296		2203	4300	6503	SO:0001583	missense	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.802G>A	4.37:g.122071296C>T	ENSP00000426613:p.Glu268Lys			Missense_Mutation	SNP	NULL	p.E191K	ENST00000509841.1	37	c.571	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753134	0.69648	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.53	3.78	0.43462	.	0.581634	0.16673	N	0.204267	T	0.71617	0.3361	M	0.75264	2.295	0.09310	N	0.999998	B;D	0.56746	0.091;0.977	B;P	0.55871	0.027;0.786	T	0.62932	-0.6749	10	0.66056	D	0.02	-2.9587	9.3838	0.38329	0.1426:0.7844:0.0:0.073	.	261;191	B4DVF5;Q96KP6	.;TNIP3_HUMAN	K	191;191;261;268	ENSP00000057513:E191K;ENSP00000411817:E191K;ENSP00000427106:E261K;ENSP00000426613:E268K	ENSP00000057513:E191K	E	-	1	0	TNIP3	122290746	0.551000	0.26497	0.240000	0.24138	0.648000	0.38561	2.357000	0.44125	0.775000	0.33450	0.585000	0.79938	GAG	TNIP3	-	NULL		0.438	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	C	NM_024873		122071296	-1	no_errors	ENST00000057513	ensembl	human	known	70_37	missense	SNP	0.463	T	T	122071296	C	T	122071296	3	4	105	1	0	0	0	0	1	0	0	0	16346	835	29	1	430	1	TNIP3	4	122071296	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	11332151	122071296	69082980	68	15541										
TBC1D9	23158	genome.wustl.edu	37	chr4	141543434	141543434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgttttttgcactggtaatcCtggccatcatgcacacgggc	10	11	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:141543434C>T	ENST00000442267.2	-	21	3790	c.3716G>A	c.(3715-3717)aGg>aAg	p.R1239K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1239							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACTGGTAATCCTGGCCATCAT	0.587																																																	0													71	72	72					4																	141543434		2011	4179	6190	SO:0001583	missense	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3716G>A	4.37:g.141543434C>T	ENSP00000411197:p.Arg1239Lys		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.R1239K	ENST00000442267.2	37	c.3716	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	4.506	0.093919	0.08632	.	.	ENSG00000109436	ENST00000442267	T	0.05649	3.41	5.22	4.38	0.52667	.	0.102126	0.64402	D	0.000003	T	0.02848	0.0085	N	0.05487	-0.04	0.35833	D	0.825468	B	0.02656	0.0	B	0.06405	0.002	T	0.29150	-1.0021	10	0.02654	T	1	.	9.8947	0.41311	0.0:0.8454:0.0:0.1546	.	1239	Q6ZT07	TBCD9_HUMAN	K	1239	ENSP00000411197:R1239K	ENSP00000411197:R1239K	R	-	2	0	TBC1D9	141762884	0.656000	0.27385	1.000000	0.80357	0.998000	0.95712	3.373000	0.52394	1.194000	0.43101	0.655000	0.94253	AGG	TBC1D9	-	NULL		0.587	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	C	NM_015130		141543434	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	missense	SNP	0.998	T	T	141543434	C	T	141543434	3	4	105	1	0	0	0	0	1	0	0	0	15657	681	24	4	88	4	TBC1D9	4	141543434	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	19472138	141543434	49610842	69	15542										
GRIA2	2891	genome.wustl.edu	37	chr4	158254137	158254137	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aatagaaagggccctcaaacAggtcagttactcaaaataat	7	8	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr4:158254137A>T	ENST00000264426.9	+	7	1328	c.1049A>T	c.(1048-1050)cAg>cTg	p.Q350L	GRIA2_ENST00000507898.1_Splice_Site_p.Q303L|GRIA2_ENST00000296526.7_Splice_Site_p.Q350L|GRIA2_ENST00000449365.1_Splice_Site_p.Q303L|GRIA2_ENST00000393815.2_Splice_Site_p.Q303L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	350					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCCCTCAAACAGGTCAGTTAC	0.423																																																	0													44	49	47					4																	158254137		2203	4299	6502	SO:0001630	splice_region_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1050+1A>T	4.37:g.158254137A>T			A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q350L	ENST00000264426.9	37	c.1049	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764004	0.69878	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.29	5.29	0.74685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.62723	1.935	0.80722	D	1	P;D;P	0.58970	0.789;0.984;0.914	B;P;P	0.61275	0.328;0.824;0.886	T	0.45891	-0.9230	10	0.72032	D	0.01	.	15.2244	0.73339	1.0:0.0:0.0:0.0	.	350;350;303	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	L	303;303;350;350;303	ENSP00000426845:Q303L;ENSP00000377403:Q303L;ENSP00000296526:Q350L;ENSP00000264426:Q350L;ENSP00000389837:Q303L	ENSP00000264426:Q350L	Q	+	2	0	GRIA2	158473587	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	1.994000	0.58287	0.455000	0.32223	CAG	GRIA2	-	pfam_ANF_lig-bd_rcpt		0.423	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	A		Missense_Mutation	158254137	1	no_errors	ENST00000264426	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158254137	A	T	158254137	5	4	105	1	0	0	0	0	0	0	1	0	6788	202	7	5	1075	5	GRIA2	4	158254137	Splice_Site	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	16710703	158254137	32900139	70	15543										
KIAA0947	23379	genome.wustl.edu	37	chr5	5463228	5463228	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gttctttggaaactctgtctGaggttctgaccaagattagg	11	7	4	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:5463228G>C	ENST00000296564.7	+	13	4003	c.3781G>C	c.(3781-3783)Gag>Cag	p.E1261Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1261					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACTCTGTCTGAGGTTCTGAC	0.358																																																	0													32	33	32					5																	5463228		1841	4091	5932	SO:0001583	missense	23379																														ENST00000296564.7:c.3781G>C	5.37:g.5463228G>C	ENSP00000296564:p.Glu1261Gln		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1261Q	ENST00000296564.7	37	c.3781	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998209	0.54147	.	.	ENSG00000164151	ENST00000296564	T	0.10860	2.83	4.78	0.129	0.14739	.	.	.	.	.	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B	0.27932	0.194	B	0.26864	0.074	T	0.41484	-0.9506	9	0.27082	T	0.32	-5.7951	3.3414	0.07119	0.3927:0.2069:0.4004:0.0	.	1261	Q9Y2F5	K0947_HUMAN	Q	1261	ENSP00000296564:E1261Q	ENSP00000296564:E1261Q	E	+	1	0	KIAA0947	5516228	0.000000	0.05858	0.013000	0.15412	0.702000	0.40608	0.076000	0.14712	0.380000	0.24823	0.305000	0.20034	GAG	KIAA0947	-	NULL		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5463228	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.003	C	C	5463228	G	C	5463228	3	2	105	1	0	0	0	0	1	0	0	0	8222	1291	45	1	3831	1	KIAA0947	5	5463228	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		5463228	175452032	71	15544										
WDR36	134430	genome.wustl.edu	37	chr5	110442995	110442995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	attttcattacgttttagagGaagctcgtgaaagtgactgg	11	5	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:110442995G>A	ENST00000513710.2	+	12	1355	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	WDR36_ENST00000505303.1_Missense_Mutation_p.E395K|WDR36_ENST00000506538.2_Missense_Mutation_p.E451K			Q8NI36	WDR36_HUMAN	WD repeat domain 36	451					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CGTTTTAGAGGAAGCTCGTGA	0.343																																																	0													73	69	70					5																	110442995		2201	4299	6500	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1351G>A	5.37:g.110442995G>A	ENSP00000424628:p.Glu451Lys		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E451K	ENST00000513710.2	37	c.1351	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404825	0.25378	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.67523	-0.27;-0.27;0.29	4.81	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.518967	0.22790	N	0.055613	T	0.62925	0.2468	L	0.58583	1.82	0.36680	D	0.878975	B	0.21905	0.062	B	0.19148	0.024	T	0.70594	-0.4829	10	0.87932	D	0	-15.5063	13.917	0.63905	0.0785:0.0:0.9215:0.0	.	451	Q8NI36	WDR36_HUMAN	K	451;451;395	ENSP00000423067:E451K;ENSP00000424628:E451K;ENSP00000422158:E395K	ENSP00000422158:E395K	E	+	1	0	WDR36	110470894	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.461000	0.45040	2.389000	0.81357	0.467000	0.42956	GAA	WDR36	-	superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom		0.343	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	G	NM_139281		110442995	1	no_errors	ENST00000506538	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110442995	G	A	110442995	3	1	105	1	0	0	0	0	1	0	0	0	17321	1175	41	1	1397	1	WDR36	5	110442995	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	104979767	110442995	70472265	72	15545										
SLC12A2	6558	genome.wustl.edu	37	chr5	127507426	127507426	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aaggtctggatatatctcatCttcaaggacaaggtaaattt	8	6	4	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:127507426C>G	ENST00000262461.2	+	19	2980	c.2791C>G	c.(2791-2793)Ctt>Gtt	p.L931V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L931V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	931					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TATATCTCATCTTCAAGGACA	0.294																																																	0													108	118	114					5																	127507426		2203	4297	6500	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2791C>G	5.37:g.127507426C>G	ENSP00000262461:p.Leu931Val		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L931V	ENST00000262461.2	37	c.2791	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	C	7.685	0.689804	0.14973	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.93133	-3.17;-3.17	5.0	5.0	0.66597	.	0.062767	0.64402	D	0.000004	D	0.89979	0.6872	L	0.35288	1.05	0.53005	D	0.999961	P;B	0.46327	0.876;0.319	B;B	0.43123	0.409;0.045	D	0.87731	0.2579	10	0.18276	T	0.48	.	18.8491	0.92220	0.0:1.0:0.0:0.0	.	931;931	P55011-3;P55011	.;S12A2_HUMAN	V	931	ENSP00000262461:L931V;ENSP00000340878:L931V	ENSP00000262461:L931V	L	+	1	0	SLC12A2	127535325	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	5.607000	0.67648	2.765000	0.95021	0.650000	0.86243	CTT	SLC12A2	-	tigrfam_Na/K/Cl_cotransptS		0.294	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	C	NM_001046		127507426	1	no_errors	ENST00000262461	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127507426	C	G	127507426	3	3	105	1	0	0	0	0	1	0	0	0	14413	913	32	1	2865	1	SLC12A2	5	127507426	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	17064431	127507426	53407834	73	15546										
DDX46	9879	genome.wustl.edu	37	chr5	134152222	134152222	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctccaactgcaggaaatgctGagaaattagaaattgctaag	9	7	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:134152222G>A	ENST00000354283.4	+	19	2674	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	DDX46_ENST00000452510.2_Missense_Mutation_p.E847K			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	847					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAAATGCTGAGAAATTAGA	0.393																																					Colon(13;391 453 4901 21675 24897)												0													56	59	58					5																	134152222		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2539G>A	5.37:g.134152222G>A	ENSP00000346236:p.Glu847Lys		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E847K	ENST00000354283.4	37	c.2539	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605824	0.46527	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.25250	1.81;1.81	5.93	5.93	0.95920	.	0.047005	0.85682	D	0.000000	T	0.19967	0.0480	N	0.24115	0.695	0.58432	D	0.999998	B	0.25850	0.136	B	0.24006	0.05	T	0.07868	-1.0750	10	0.11794	T	0.64	-21.4903	20.3397	0.98756	0.0:0.0:1.0:0.0	.	847	Q7L014	DDX46_HUMAN	K	847	ENSP00000416534:E847K;ENSP00000346236:E847K	ENSP00000346236:E847K	E	+	1	0	DDX46	134180121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.964000	0.70379	2.803000	0.96430	0.585000	0.79938	GAG	DDX46	-	NULL		0.393	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134152222	1	no_errors	ENST00000452510	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134152222	G	A	134152222	3	1	105	1	0	0	0	0	1	0	0	0	4369	1291	45	1	2613	1	DDX46	5	134152222	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	6644796	134152222	46763038	74	15547										
CTNNA1	1495	genome.wustl.edu	37	chr5	138264974	138264974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	actctgactttgagacagaaGattttgatgtcagaagcagg	11	6	2	6			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:138264974G>C	ENST00000302763.7	+	14	2029	c.1939G>C	c.(1939-1941)Gat>Cat	p.D647H	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D544H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D647H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D277H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	647					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGACAGAAGATTTTGATGT	0.572																																																	0													111	111	111					5																	138264974		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1939G>C	5.37:g.138264974G>C	ENSP00000304669:p.Asp647His		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D647H	ENST00000302763.7	37	c.1939	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521411	0.85600	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.47716	1.5	0.80722	D	1	B;B;D	0.55385	0.02;0.009;0.971	B;B;D	0.67231	0.033;0.012;0.95	T	0.60591	-0.7233	10	0.48119	T	0.1	-22.6849	19.3974	0.94612	0.0:0.0:1.0:0.0	.	647;524;647	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	544;647;647;632;647;277	ENSP00000347190:D544H;ENSP00000304669:D647H;ENSP00000427821:D647H;ENSP00000438476:D277H	ENSP00000304669:D647H	D	+	1	0	CTNNA1	138292873	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.901000	0.87382	2.752000	0.94435	0.655000	0.94253	GAT	CTNNA1	-	pfam_Vinculin/catenin		0.572	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	G	NM_001903		138264974	1	no_errors	ENST00000302763	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138264974	G	C	138264974	3	2	105	1	0	0	0	0	1	0	0	0	4017	942	33	1	1989	1	CTNNA1	5	138264974	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	4112752	138264974	42650286	75	15548										
CD14	929	genome.wustl.edu	37	chr5	140011944	140011944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agccgccatcagtccgcgttCgcccagtccaggattgtcag	11	15	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:140011944C>T	ENST00000302014.6	-	2	1254	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CD14_ENST00000401743.2_Missense_Mutation_p.E209K	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	209					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGCGTTCGCCCAGTCCA	0.622																																																	0													56	61	59					5																	140011944		2203	4300	6503	SO:0001583	missense	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.625G>A	5.37:g.140011944C>T	ENSP00000304236:p.Glu209Lys		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.E209K	ENST00000302014.6	37	c.625	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.123036	0.94429	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	D;D;T	0.90788	-2.73;-2.73;1.55	5.74	4.88	0.63580	.	0.218964	0.31589	N	0.007387	D	0.93559	0.7944	M	0.76574	2.34	0.33338	D	0.569458	D	0.76494	0.999	P	0.61658	0.892	D	0.95715	0.8761	10	0.72032	D	0.01	-16.4211	10.7107	0.45982	0.0:0.9128:0.0:0.0872	.	209	P08571	CD14_HUMAN	K	209	ENSP00000304236:E209K;ENSP00000385519:E209K;ENSP00000426543:E209K	ENSP00000304236:E209K	E	-	1	0	CD14	139992128	0.595000	0.26857	0.983000	0.44433	0.998000	0.95712	1.825000	0.39081	1.440000	0.47531	0.655000	0.94253	GAA	CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.622	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	C	NM_000591		140011944	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	missense	SNP	0.701	T	T	140011944	C	T	140011944	3	4	105	1	0	0	0	0	1	0	0	0	2969	893	31	1	506	1	CD14	5	140011944	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1746970	140011944	40903316	76	15549										
PCDHA2	56146	genome.wustl.edu	37	chr5	140176361	140176361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gacgctgactcaggctacaaCgcgtggctttcgtacgagct	12	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:140176361C>T	ENST00000526136.1	+	1	1812	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHA2_ENST00000378132.1_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.N604N|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N604N(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTACAACGCGTGGCTTT	0.657																																																	2	Substitution - coding silent(2)	large_intestine(2)											154	139	144					5																	140176361		2203	4300	6503	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1812C>T	5.37:g.140176361C>T			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N604	ENST00000526136.1	37	c.1812	CCDS54914.1	5																																																																																			PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	C	NM_018905		140176361	1	no_errors	ENST00000526136	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140176361	C	T	140176361	2	4	105	1	0	0	0	0	0	0	0	1	11548	535	19	2		2	PCDHA2	5	140176361	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	164417	140176361	40738899	77	15550										
PCDHA3	56145	genome.wustl.edu	37	chr5	140182150	140182150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gacaatgcgccggcattctcGcagtccgagtacacggtgtt	12	12	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:140182150G>A	ENST00000522353.2	+	1	1368	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S456S	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCATTCTCGCAGTCCGAGT	0.672																																																	0													94	95	95					5																	140182150		2203	4300	6503	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1368G>A	5.37:g.140182150G>A			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S456	ENST00000522353.2	37	c.1368	CCDS54915.1	5																																																																																			PCDHA3	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	G	NM_018906		140182150	1	no_errors	ENST00000522353	ensembl	human	known	70_37	silent	SNP	0.004	A	A	140182150	G	A	140182150	2	1	105	1	0	0	0	0	0	0	0	1	11549	1074	38	2		2	PCDHA3	5	140182150	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	5789	140182150	40733110	78	15551										
PCDHA3	56145	genome.wustl.edu	37	chr5	140183041	140183041	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agctggtcatactcgcagcaGaggcagcagagggtgtgctc	15	10	1	2	rs372857774		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:140183041G>C	ENST00000522353.2	+	1	2259	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.Q753H	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	753	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGCAGCAGAGGCAGCAGA	0.647																																																	0								G	,,HIS/GLN,,HIS/GLN	0,4406		0,0,2203	90	96	94		,,2259,,2259	3.1	1	5		94	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron,missense	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,24,,24	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,,,	,,753/951,,753/825	140183041	1,13005	2203	4300	6503	SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2259G>C	5.37:g.140183041G>C	ENSP00000429808:p.Gln753His		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q753H	ENST00000522353.2	37	c.2259	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	12.81	2.050723	0.36181	0.0	1.16E-4	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.15017	2.46;2.46	4.03	3.13	0.36017	.	0.000000	0.39834	U	0.001259	T	0.26231	0.0640	M	0.91038	3.17	0.20638	N	0.999878	B;B	0.24186	0.099;0.06	B;B	0.26416	0.069;0.047	T	0.33904	-0.9850	10	0.66056	D	0.02	.	5.6531	0.17627	0.1975:0.2179:0.5847:0.0	.	753;753	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	753	ENSP00000429808:Q753H;ENSP00000434086:Q753H	ENSP00000429808:Q753H	Q	+	3	2	PCDHA3	140163225	0.758000	0.28405	0.980000	0.43619	0.961000	0.63080	0.249000	0.18216	0.778000	0.33520	0.313000	0.20887	CAG	PCDHA3	-	NULL		0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	G	NM_018906		140183041	1	no_errors	ENST00000522353	ensembl	human	known	70_37	missense	SNP	0.592	C	C	140183041	G	C	140183041	3	2	105	1	0	0	0	0	1	0	0	0	11549	933	33	1	2261	1	PCDHA3	5	140183041	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	891	140183041	40732219	79	15552										
PCDHA13	56136	genome.wustl.edu	37	chr5	140263052	140263052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccccttcaagctggtgtccaCctacaagaactactactcat	5	15	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:140263052C>G	ENST00000289272.2	+	1	1199	c.1199C>G	c.(1198-1200)aCc>aGc	p.T400S	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T400S|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTCCACCTACAAGAAC	0.582																																					Melanoma(147;1739 1852 5500 27947 37288)												0													147	143	144					5																	140263052		2203	4300	6503	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1199C>G	5.37:g.140263052C>G	ENSP00000289272:p.Thr400Ser		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T400S	ENST00000289272.2	37	c.1199	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	7.258	0.604581	0.14002	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51325	0.71;0.71	5.33	4.44	0.53790	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43678	0.1258	N	0.11341	0.13	0.21762	N	0.999557	P;P;P	0.40302	0.712;0.51;0.664	P;B;P	0.56700	0.804;0.401;0.472	T	0.37103	-0.9720	9	0.10636	T	0.68	.	13.2765	0.60189	0.2876:0.7124:0.0:0.0	.	400;400;400	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	400	ENSP00000386821:T400S;ENSP00000289272:T400S	ENSP00000289272:T400S	T	+	2	0	PCDHA13	140243236	0.000000	0.05858	0.999000	0.59377	0.611000	0.37282	1.345000	0.33953	1.162000	0.42619	0.561000	0.74099	ACC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.582	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140263052	1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense	SNP	0.943	G	G	140263052	C	G	140263052	3	3	105	1	0	0	0	0	1	0	0	0	11547	507	18	4	1201	4	PCDHA13	5	140263052	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	80011	140263052	40652208	80	15553										
KIAA0141	9812	genome.wustl.edu	37	chr5	141309764	141309764	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aacaagataaatcaaaaactCtttcccttgaggaggctgtg	8	8	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:141309764C>G	ENST00000432126.2	+	7	813	c.679C>G	c.(679-681)Ctt>Gtt	p.L227V	KIAA0141_ENST00000194118.4_Missense_Mutation_p.L227V	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	227					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAAAACTCTTTCCCTTGA	0.468																																																	0													68	71	70					5																	141309764		2203	4300	6503	SO:0001583	missense	9812			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.679C>G	5.37:g.141309764C>G	ENSP00000396225:p.Leu227Val		Q969R4|Q96EU9	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.L227V	ENST00000432126.2	37	c.679	CCDS4268.1	5	.	.	.	.	.	.	.	.	.	.	C	6.220	0.408692	0.11812	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.19806	2.62;2.62;2.12	4.73	1.81	0.25067	.	0.711573	0.13502	N	0.383163	T	0.17023	0.0409	L	0.43152	1.355	0.20638	N	0.999874	B	0.12013	0.005	B	0.08055	0.003	T	0.31916	-0.9926	10	0.13470	T	0.59	-0.2767	12.2866	0.54795	0.0:0.4879:0.5121:0.0	.	227	Q14154	DELE_HUMAN	V	227	ENSP00000396225:L227V;ENSP00000194118:L227V;ENSP00000422686:L227V	ENSP00000194118:L227V	L	+	1	0	KIAA0141	141289948	0.381000	0.25140	0.109000	0.21407	0.611000	0.37282	0.557000	0.23454	0.177000	0.19895	0.305000	0.20034	CTT	KIAA0141	-	NULL		0.468	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2	C	NM_014773		141309764	1	no_errors	ENST00000194118	ensembl	human	known	70_37	missense	SNP	0.467	G	G	141309764	C	G	141309764	3	3	105	1	0	0	0	0	1	0	0	0	8176	913	32	1	705	1	KIAA0141	5	141309764	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1046712	141309764	39605496	81	15554										
SLC6A7	6534	genome.wustl.edu	37	chr5	149583535	149583535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccatactacctgcggcccaaGaaggcggtgttctcagggct	12	13	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:149583535G>A	ENST00000230671.2	+	10	1637	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	SLC6A7_ENST00000524041.1_Silent_p.K422K	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	422					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGCGGCCCAAGAAGGCGGTGT	0.572																																																	0													98	69	79					5																	149583535		2203	4300	6503	SO:0001819	synonymous_variant	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1266G>A	5.37:g.149583535G>A			Q0VG81|Q52LU6	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.K422	ENST00000230671.2	37	c.1266	CCDS4305.1	5																																																																																			SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.572	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	G	NM_014228		149583535	1	no_errors	ENST00000230671	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149583535	G	A	149583535	2	1	105	1	0	0	0	0	0	0	0	1	14719	933	33	1		1	SLC6A7	5	149583535	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	8273771	149583535	31331725	82	15555										
GFPT2	9945	genome.wustl.edu	37	chr5	179745956	179745956	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttggtgtgctctatgatagcGctggggcaagggaaacaggc	16	7	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr5:179745956G>A	ENST00000253778.8	-	10	964	c.795C>T	c.(793-795)agC>agT	p.S265S	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	265	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTATGATAGCGCTGGGGCAAG	0.602																																																	0													47	48	48					5																	179745956		2093	4205	6298	SO:0001630	splice_region_variant	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.795-1C>T	5.37:g.179745956G>A			Q53XM2|Q9BWS4	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.S265	ENST00000253778.8	37	c.795	CCDS43411.1	5																																																																																			GFPT2	-	tigrfam_GlmS_trans		0.602	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	G	NM_005110	Silent	179745956	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	silent	SNP	0.254	A	A	179745956	G	A	179745956	5	1	105	1	0	0	0	0	0	0	1	0	6365	1101	38	2	1293	2	GFPT2	5	179745956	Splice_Site	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	30162421	179745956	1169304	83	15556										
ZNF192	7745	genome.wustl.edu	37	chr6	28121105	28121105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atccacactggggagaaaccCtatcagtgtaatgtgtgtgg	12	8	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:28121105C>T	ENST00000330236.6	+	6	1231	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	ZKSCAN8_ENST00000457389.2_Silent_p.P349P	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	349					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGAGAAACCCTATCAGTGTA	0.458																																																	0													221	216	218					6																	28121105		2203	4300	6503	SO:0001819	synonymous_variant	7745				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1047C>T	6.37:g.28121105C>T			A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P349	ENST00000330236.6	37	c.1047	CCDS4645.1	6																																																																																			ZNF192	-	pfscan_Znf_C2H2		0.458	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	C			28121105	1	no_errors	ENST00000330236	ensembl	human	known	70_37	silent	SNP	0.999	T	T	28121105	C	T	28121105	2	4	105	1	0	0	0	0	0	0	0	1	17786	668	24	4		4	ZNF192	6	28121105	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		28121105	142993962	84	15557										
BAT3	7917	genome.wustl.edu	37	chr6	31607000	31607000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcgtttttgtatatcagaccGgagctaaagagaaaaagtaa	9	5	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:31607000G>A	ENST00000375964.6	-	25	3620	c.3307C>T	c.(3307-3309)Cgg>Tgg	p.R1103W	BAG6_ENST00000404765.2_Missense_Mutation_p.R1133W|BAG6_ENST00000375976.4_Missense_Mutation_p.R1097W|BAG6_ENST00000211379.5_Missense_Mutation_p.R1097W|BAG6_ENST00000439687.2_Missense_Mutation_p.R874W|BAG6_ENST00000362049.6_Missense_Mutation_p.R1048W|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1103					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ATATCAGACCGGAGCTAAAGA	0.527																																																	0													36	34	35					6																	31607000		2203	4300	6503	SO:0001583	missense	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3307C>T	6.37:g.31607000G>A	ENSP00000365131:p.Arg1103Trp		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.R1133W	ENST00000375964.6	37	c.3397	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241629	0.58995	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	T;T;T;T;T;T	0.46451	1.26;1.25;1.26;1.23;0.87;1.48	5.38	4.48	0.54585	.	0.294818	0.35124	N	0.003430	T	0.41488	0.1161	L	0.49126	1.545	0.33731	D	0.618213	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.72075	0.887;0.967;0.965;0.976	T	0.51148	-0.8742	10	0.87932	D	0	.	4.6026	0.12361	0.0821:0.151:0.6106:0.1564	.	874;1048;1103;1097	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	W	1097;1103;1097;1133;874;1048	ENSP00000365143:R1097W;ENSP00000365131:R1103W;ENSP00000211379:R1097W;ENSP00000384494:R1133W;ENSP00000402856:R874W;ENSP00000354875:R1048W	ENSP00000211379:R1097W	R	-	1	2	BAG6	31714979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.123000	0.57917	2.813000	0.96785	0.655000	0.94253	CGG	BAG6	-	NULL		0.527	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		G	NM_080703		31607000	-1	no_errors	ENST00000404765	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31607000	G	A	31607000	3	1	105	1	0	0	0	0	1	0	0	0	1323	1115	39	2	95	2	BAT3	6	31607000	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3485895	31607000	139508067	85	15558										
TAF11	6882	genome.wustl.edu	37	chr6	34848131	34848131	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ataacggttcagctgctcctCagaaaaagaagaaaccagga	9	9	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:34848131C>A	ENST00000361288.4	-	3	474	c.343G>T	c.(343-345)Gag>Tag	p.E115*	TAF11_ENST00000420584.2_Nonsense_Mutation_p.E115*|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	115					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						AGCTGCTCCTCAGAAAAAGAA	0.403																																																	0													104	106	105					6																	34848131		2203	4300	6503	SO:0001587	stop_gained	6882			X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.343G>T	6.37:g.34848131C>A	ENSP00000354633:p.Glu115*		B2R8R3|B4DY18|Q9UHS0	Nonsense_Mutation	SNP	pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.E115*	ENST00000361288.4	37	c.343	CCDS4797.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.813593	0.96975	.	.	ENSG00000064995	ENST00000361288;ENST00000420584	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000354633:E115X	E	-	1	0	TAF11	34956109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.554000	0.82212	2.890000	0.99128	0.650000	0.86243	GAG	TAF11	-	pfam_TAFII28,superfamily_Histone-fold		0.403	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF11	HGNC	protein_coding	OTTHUMT00000040259.1	C	NM_005643		34848131	-1	no_errors	ENST00000361288	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	34848131	C	A	34848131	4	1	105	1	0	0	0	0	0	1	0	0	15545	835	29	3	304	3	TAF11	6	34848131	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3241131	34848131	136266936	86	15559										
DST	667	genome.wustl.edu	37	chr6	56328484	56328484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gggatcttcggcctcggggtCggaaagcagccataccctgg	15	12	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:56328484C>T	ENST00000361203.3	-	96	21885	c.21878G>A	c.(21877-21879)cGa>cAa	p.R7293Q	DST_ENST00000370788.2_Missense_Mutation_p.R5207Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R7078Q|DST_ENST00000421834.2_Missense_Mutation_p.R5289Q|DST_ENST00000244364.6_Missense_Mutation_p.R4966Q|DST_ENST00000370754.5_Missense_Mutation_p.R7582Q|DST_ENST00000370769.4_Missense_Mutation_p.R7404Q			Q03001	DYST_HUMAN	dystonin	7402	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTCGGGGTCGGAAAGCAGC	0.567																																																	0													130	138	135					6																	56328484		2006	4156	6162	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21878G>A	6.37:g.56328484C>T	ENSP00000354508:p.Arg7293Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R7582Q	ENST00000361203.3	37	c.22745		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268261|4.268261	0.80469|0.80469	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.66995	.|1.04;-0.23;-0.24;-0.12;0.71;-0.11;-0.18	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.45606	.|D	.|0.000354	T|T	0.80924|0.80924	0.4717|0.4717	M|M	0.78801|0.78801	2.425|2.425	.|.	.|.	.|.	.|D;P;D;D;P;D;D;D	.|0.89917	.|1.0;0.513;1.0;1.0;0.769;0.997;0.999;0.996	.|D;B;D;D;B;D;D;P	.|0.80764	.|0.994;0.093;0.99;0.994;0.1;0.968;0.99;0.49	T|T	0.81484|0.81484	-0.0912|-0.0912	4|9	.|0.66056	.|D	.|0.02	.|.	20.1013|20.1013	0.97878|0.97878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5289;7404;7582;7402;4966;90;53;5207	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	N|Q	91|4966;7582;7404;5289;7078;5207;7293	.|ENSP00000244364:R4966Q;ENSP00000359790:R7582Q;ENSP00000359805:R7404Q;ENSP00000400883:R5289Q;ENSP00000393645:R7078Q;ENSP00000359824:R5207Q;ENSP00000354508:R7293Q	.|ENSP00000244364:R4966Q	D|R	-|-	1|2	0|0	DST|DST	56436443|56436443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.750000|7.750000	0.85110|0.85110	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAC|CGA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.567	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56328484	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56328484	C	T	56328484	3	4	105	1	0	0	0	0	1	0	0	0	4793	884	31	1	634	1	DST	6	56328484	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	21480353	56328484	114786583	87	15560										
SOBP	55084	genome.wustl.edu	37	chr6	107955149	107955149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atccctcctgtctccgtccaGccacctgctagcatcgggcc	8	19	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:107955149G>A	ENST00000317357.5	+	6	1760	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCTCCGTCCAGCCACCTGCTA	0.627																																																	0													88	97	94					6																	107955149		2066	4201	6267	SO:0001819	synonymous_variant	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1101G>A	6.37:g.107955149G>A				Silent	SNP	NULL	p.Q367	ENST00000317357.5	37	c.1101	CCDS43488.1	6																																																																																			SOBP	-	NULL		0.627	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	G	NM_018013		107955149	1	no_errors	ENST00000317357	ensembl	human	known	70_37	silent	SNP	1.000	A	A	107955149	G	A	107955149	2	1	105	1	0	0	0	0	0	0	0	1	14942	962	34	4		4	SOBP	6	107955149	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	51626665	107955149	63159918	88	15561										
DSE	29940	genome.wustl.edu	37	chr6	116752140	116752140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atcttcaagaagcctacttaTggaccaaacaagttctgacc	6	11	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:116752140T>C	ENST00000331677.3	+	5	1138	c.694T>C	c.(694-696)Tgg>Cgg	p.W232R	DSE_ENST00000359564.2_Missense_Mutation_p.W232R|DSE_ENST00000537543.1_Missense_Mutation_p.W251R|DSE_ENST00000452085.3_Missense_Mutation_p.W232R			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	232					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGCCTACTTATGGACCAAACA	0.443																																																	0													122	106	111					6																	116752140		2203	4300	6503	SO:0001583	missense	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.694T>C	6.37:g.116752140T>C	ENSP00000332151:p.Trp232Arg		Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.W251R	ENST00000331677.3	37	c.751	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619722	0.87460	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.39210	-0.9625	10	0.66056	D	0.02	-10.1375	16.4608	0.84044	0.0:0.0:0.0:1.0	.	251;232	B7Z765;Q9UL01	.;DSE_HUMAN	R	232;251;232;232	ENSP00000404049:W232R;ENSP00000441152:W251R;ENSP00000332151:W232R;ENSP00000352567:W232R	ENSP00000332151:W232R	W	+	1	0	DSE	116858833	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.552000	0.82192	2.288000	0.76882	0.533000	0.62120	TGG	DSE	-	superfamily_Chondroitin_lyas		0.443	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	T	NM_013352		116752140	1	no_errors	ENST00000537543	ensembl	human	known	70_37	missense	SNP	1.000	C	C	116752140	T	C	116752140	3	2	105	1	0	0	0	0	1	0	0	0	4784	1464	51	5	704	5	DSE	6	116752140	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	8796991	116752140	54362927	89	15562										
ECT2L	345930	genome.wustl.edu	37	chr6	139165616	139165616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tctagcgtgctaaagcccagAtgccaaccacgcctctccca	7	17	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:139165616A>G	ENST00000423192.1	+	6	824	c.663A>G	c.(661-663)agA>agG	p.R221R	ECT2L_ENST00000367682.2_Silent_p.R221R|ECT2L_ENST00000541398.1_Silent_p.R152R			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	221							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAAAGCCCAGATGCCAACCAC	0.502			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													98	97	97					6																	139165616		1904	4127	6031	SO:0001819	synonymous_variant	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.663A>G	6.37:g.139165616A>G			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain	p.R221	ENST00000423192.1	37	c.663	CCDS43508.1	6																																																																																			ECT2L	-	NULL		0.502	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	A	NM_001077706		139165616	1	no_errors	ENST00000367682	ensembl	human	known	70_37	silent	SNP	0.003	G	G	139165616	A	G	139165616	2	3	105	1	0	0	0	0	0	0	0	1	4912	330	12	5		5	ECT2L	6	139165616	Silent	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	22413476	139165616	31949451	90	15563										
HIVEP2	3097	genome.wustl.edu	37	chr6	143091571	143091571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agcattcgcttgctacctccCagggtggccacgctgtcaga	11	14	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:143091571C>T	ENST00000367604.1	-	4	4944	c.4305G>A	c.(4303-4305)ctG>ctA	p.L1435L	HIVEP2_ENST00000367603.2_Silent_p.L1435L|HIVEP2_ENST00000012134.2_Silent_p.L1435L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCTACCTCCCAGGGTGGCCA	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													90	90	90					6																	143091571		1966	4166	6132	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4305G>A	6.37:g.143091571C>T			Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1435	ENST00000367604.1	37	c.4305	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143091571	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	0.074	T	T	143091571	C	T	143091571	2	4	105	1	0	0	0	0	0	0	0	1	7207	581	21	4		4	HIVEP2	6	143091571	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3925955	143091571	28023496	91	15564										
ULBP1	80329	genome.wustl.edu	37	chr6	150290316	150290316	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcttcaatggacagaagttcCtcctctttgactcaaacaac	5	12	4	2	rs186848532	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr6:150290316C>G	ENST00000229708.3	+	3	488	c.445C>G	c.(445-447)Ctc>Gtc	p.L149V		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	149	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		ACAGAAGTTCCTCCTCTTTGA	0.517																																																	0													89	87	88					6																	150290316		2203	4300	6503	SO:0001583	missense	80329			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.445C>G	6.37:g.150290316C>G	ENSP00000229708:p.Leu149Val		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.L149V	ENST00000229708.3	37	c.445	CCDS5223.1	6	.	.	.	.	.	.	.	.	.	.	c	12.84	2.059954	0.36373	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.12255	2.7;2.7	2.29	2.29	0.28610	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.19525	0.0469	M	0.70903	2.155	0.09310	N	1	D	0.63880	0.993	D	0.71414	0.973	T	0.02144	-1.1206	9	0.87932	D	0	.	8.1967	0.31400	0.0:1.0:0.0:0.0	.	149	Q9BZM6	N2DL1_HUMAN	V	149	ENSP00000356314:L149V;ENSP00000229708:L149V	ENSP00000229708:L149V	L	+	1	0	ULBP1	150332009	0.000000	0.05858	0.002000	0.10522	0.116000	0.19942	-0.550000	0.06034	1.599000	0.50093	0.454000	0.30748	CTC	ULBP1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.517	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP1	HGNC	protein_coding	OTTHUMT00000042677.2	C			150290316	1	no_errors	ENST00000229708	ensembl	human	known	70_37	missense	SNP	0.002	G	G	150290316	C	G	150290316	3	3	105	1	0	0	0	0	1	0	0	0	17003	681	24	4	455	4	ULBP1	6	150290316	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7198745	150290316	20824751	92	15565										
ELN	2006	genome.wustl.edu	37	chr7	73471043	73471043	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccgccaaggctgccaagtacGgtaagtgcccctgccctgcc	11	17	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:73471043G>T	ENST00000252034.7	+	21	1756	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	ELN_ENST00000357036.5_Splice_Site_p.G458*|ELN_ENST00000320492.7_Splice_Site_p.G391W|ELN_ENST00000458204.1_Splice_Site_p.G443*|ELN_ENST00000380553.4_Splice_Site_p.G336W|ELN_ENST00000380575.4_Splice_Site_p.G443W|ELN_ENST00000380562.4_Splice_Site_p.G453*|ELN_ENST00000380576.5_Splice_Site_p.G453W|ELN_ENST00000320399.6_Splice_Site_p.G453*|ELN_ENST00000445912.1_Splice_Site_p.G453*|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Splice_Site_p.G448W|ELN_ENST00000429192.1_Splice_Site_p.G458W|ELN_ENST00000358929.4_Splice_Site_p.G453C|ELN_ENST00000380584.4_Splice_Site_p.G439W	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGCCAAGTACGGTAAGTGCCC	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													42	43	43					7																	73471043		2203	4300	6503	SO:0001630	splice_region_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1357+1G>T	7.37:g.73471043G>T			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Nonsense_Mutation	SNP	prints_Tropoelastin	p.G453*	ENST00000252034.7	37	c.1357	CCDS5562.2	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.5|24.5|24.5	4.534749|4.534749|4.534749	0.85812|0.85812|0.85812	.|.|.	.|.|.	ENSG00000049540|ENSG00000049540|ENSG00000049540	ENST00000358929|ENST00000320492;ENST00000414324;ENST00000380575;ENST00000380584;ENST00000429192;ENST00000380553;ENST00000380576|ENST00000445912;ENST00000252034;ENST00000380562;ENST00000458204;ENST00000357036;ENST00000442462;ENST00000320399	T|T;T;T;T;T;T;T|.	0.57273|0.41758|.	0.41|1.0;1.19;1.2;1.31;1.02;0.99;1.01|.	3.91|3.91|3.91	3.91|3.91|3.91	0.45181|0.45181|0.45181	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.43188|0.43188|.	0.1236|0.1236|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|D;D;D;D;D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	.|D;D;D;D;D;D;D;D|.	.|0.97110|.	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	T|T|.	0.47598|0.47598|.	-0.9105|-0.9105|.	5|7|.	0.54805|0.87932|0.12766	T|D|T	0.06|0|0.61	.|.|.	11.7797|11.7797|11.7797	0.52006|0.52006|0.52006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|391;448;443;458;453;336;383;439|.	.|G5E950;G3V0G6;P15502-7;P15502-12;P15502-13;P15502-11;B3KRT8;P15502-8|.	.|.;.;.;.;.;.;.;.|.	C|W|X	453|391;448;443;439;458;336;453|453;453;453;443;458;422;453	ENSP00000351807:G453C|ENSP00000315607:G391W;ENSP00000392575:G448W;ENSP00000369949:G443W;ENSP00000369958:G439W;ENSP00000391129:G458W;ENSP00000369926:G336W;ENSP00000369950:G453W|.	ENSP00000351807:G453C|ENSP00000315607:G391W|ENSP00000252034:G453X	G|G|G	+|+|+	1|1|1	0|0|0	ELN|ELN|ELN	73108979|73108979|73108979	0.993000|0.993000|0.993000	0.37304|0.37304|0.37304	0.786000|0.786000|0.786000	0.31890|0.31890|0.31890	0.399000|0.399000|0.399000	0.30720|0.30720|0.30720	2.665000|2.665000|2.665000	0.46791|0.46791|0.46791	2.215000|2.215000|2.215000	0.71742|0.71742|0.71742	0.449000|0.449000|0.449000	0.29647|0.29647|0.29647	GGT|GGG|GGA	ELN	-	NULL		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501	Nonsense_Mutation	73471043	1	no_errors	ENST00000320399	ensembl	human	known	70_37	nonsense	SNP	0.935	T	T	73471043	G	T	73471043	5	4	105	1	0	0	0	0	0	0	1	0	5083	1130	39	2	1454	2	ELN	7	73471043	Splice_Site	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		73471043	85667620	93	15566										
PPP1R9A	55607	genome.wustl.edu	37	chr7	94540010	94540010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gacagccttagctcccgaacTgaggctgtctccccaactgt	9	15	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:94540010T>C	ENST00000433881.1	+	2	1117	c.585T>C	c.(583-585)acT>acC	p.T195T	PPP1R9A_ENST00000424654.1_Silent_p.T195T|PPP1R9A_ENST00000289495.5_Silent_p.T195T|PPP1R9A_ENST00000340694.4_Silent_p.T195T|PPP1R9A_ENST00000433360.1_Silent_p.T195T|PPP1R9A_ENST00000456331.2_Silent_p.T195T			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	195					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCTCCCGAACTGAGGCTGTCT	0.483										HNSCC(28;0.073)																																							0													77	71	73					7																	94540010		2203	4300	6503	SO:0001819	synonymous_variant	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.585T>C	7.37:g.94540010T>C			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.T195	ENST00000433881.1	37	c.585	CCDS34683.1	7																																																																																			PPP1R9A	-	NULL		0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	T	NM_001166160		94540010	1	no_errors	ENST00000289495	ensembl	human	known	70_37	silent	SNP	0.000	C	C	94540010	T	C	94540010	2	2	105	1	0	0	0	0	0	0	0	1	12405	1567	55	5		5	PPP1R9A	7	94540010	Silent	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	21068967	94540010	64598653	94	15567										
ZAN	7455	genome.wustl.edu	37	chr7	100361686	100361686	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtgaaggccgcttccttcttCgacagctgcatgcttgatat	10	11	1	2	rs377380617		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:100361686C>G	ENST00000348028.3	+	0	4299				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1378F(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCCTTCTTCGACAGCTGCA	0.612																																																	1	Substitution - coding silent(1)	large_intestine(1)											64	63	63					7																	100361686		2154	4254	6408			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361686C>G			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.F1378L	ENST00000348028.3	37	c.4134		7	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724442	0.30593	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.75704	-0.96;-0.96;-0.96	4.01	-4.92	0.03075	Uncharacterised domain, cysteine-rich (2);	0.220912	0.23312	N	0.049547	T	0.61652	0.2364	L	0.49778	1.585	0.80722	D	1	B;B	0.29253	0.201;0.239	B;B	0.34824	0.119;0.19	T	0.35919	-0.9769	10	0.37606	T	0.19	.	6.3119	0.21169	0.0:0.3308:0.1322:0.537	.	1378;1378	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1378	ENSP00000445943:F1378L;ENSP00000445091:F1378L;ENSP00000444427:F1378L	ENSP00000423579:F1378L	F	+	3	2	ZAN	100199622	0.002000	0.14202	0.032000	0.17829	0.745000	0.42441	-0.055000	0.11807	-1.320000	0.02283	-0.291000	0.09656	TTC	ZAN	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100361686	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.944	G	G	100361686	C	G	100361686	1	3	105	0	1	0	0	0	0	0	0	0	17544	883	31	1		1	ZAN	7	100361686	RNA	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5821676	100361686	58776977	95	15568										
ZAN	7455	genome.wustl.edu	37	chr7	100364824	100364824	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aggtctcctacatcaaagccGtccacgtgacagtctttgac	8	13	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:100364824G>A	ENST00000348028.3	+	0	4969				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCAAAGCCGTCCACGTGAC	0.587																																																	0													52	53	52					7																	100364824		2105	4218	6323			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364824G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.V1602I	ENST00000348028.3	37	c.4804		7	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334260	0.60853	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.63	4.63	0.57726	von Willebrand factor, type D domain (3);	0.000000	0.37623	N	0.002003	T	0.75554	0.3865	M	0.66297	2.02	0.23533	N	0.997471	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.66376	-0.5939	10	0.40728	T	0.16	.	13.6909	0.62544	0.0:0.0:1.0:0.0	.	1602;1602	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	1602;1602;1602;179	ENSP00000445943:V1602I;ENSP00000445091:V1602I;ENSP00000444427:V1602I;ENSP00000441117:V179I	ENSP00000423579:V1602I	V	+	1	0	ZAN	100202760	0.998000	0.40836	0.076000	0.20297	0.017000	0.09413	3.307000	0.51888	2.517000	0.84864	0.561000	0.74099	GTC	ZAN	-	pfam_VWF_type-D,smart_VWF_type-D		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100364824	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.926	A	A	100364824	G	A	100364824	1	1	105	0	1	0	0	0	0	0	0	0	17544	1145	40	2		2	ZAN	7	100364824	RNA	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3138	100364824	58773839	96	15569										
PLXNA4	91584	genome.wustl.edu	37	chr7	132169754	132169754	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctcctgggtgattcccccttGtggacctgtgccgaaggact	12	13	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:132169754G>T	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Q464K|PLXNA4_ENST00000321063.4_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATTCCCCCTTGTGGACCTGTG	0.438																																																	0													60	62	61					7																	132169754		2203	4300	6503	SO:0001627	intron_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4296C>A	7.37:g.132169754G>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.Q464K	ENST00000359827.3	37	c.1390	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	2.761	-0.257814	0.05791	.	.	ENSG00000221866	ENST00000378539	T	0.04360	3.64	1.92	-1.24	0.09435	.	.	.	.	.	T	0.02342	0.0072	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.47911	-0.9080	9	0.07325	T	0.83	.	0.8511	0.01172	0.2057:0.3431:0.2808:0.1704	.	464	A4D1N6	.	K	464	ENSP00000367800:Q464K	ENSP00000367800:Q464K	Q	-	1	0	PLXNA4	131820294	0.001000	0.12720	0.001000	0.08648	0.029000	0.11900	-0.074000	0.11450	-0.417000	0.07461	-0.258000	0.10820	CAA	PLXNA4	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.438	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	G	NM_181775		132169754	-1	no_errors	ENST00000378539	ensembl	human	known	70_37	missense	SNP	0.001	T	T	132169754	G	T	132169754	1	4	105	0	1	0	0	0	0	0	0	0	12146	1386	48	4		4	PLXNA4	7	132169754	Intron	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	31804930	132169754	26968909	97	15570										
CALD1	800	genome.wustl.edu	37	chr7	134618729	134618729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	catgccatgcaagagacaaaGataaaaggggaaaaggtaga	12	5	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:134618729G>C	ENST00000361675.2	+	5	1438	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	403					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAGAGACAAAGATAAAAGGGG	0.423																																																	0													103	110	108					7																	134618729		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1209G>C	7.37:g.134618729G>C	ENSP00000354826:p.Lys403Asn		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.K403N	ENST00000361675.2	37	c.1209	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230836	0.22542	.	.	ENSG00000122786	ENST00000361675	T	0.36157	1.27	5.11	5.11	0.69529	.	0.374875	0.22360	N	0.061084	T	0.37705	0.1013	L	0.36672	1.1	0.80722	D	1	P	0.42078	0.77	P	0.46144	0.505	T	0.06409	-1.0828	9	.	.	.	-20.344	16.3081	0.82856	0.0:0.0:1.0:0.0	.	403	Q05682	CALD1_HUMAN	N	403	ENSP00000354826:K403N	.	K	+	3	2	CALD1	134269269	0.993000	0.37304	0.143000	0.22291	0.230000	0.25150	2.397000	0.44477	2.372000	0.80975	0.563000	0.77884	AAG	CALD1	-	pfam_Caldesmon_LSP		0.423	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	G	NM_033138		134618729	1	no_errors	ENST00000361675	ensembl	human	novel	70_37	missense	SNP	0.889	C	C	134618729	G	C	134618729	3	2	105	1	0	0	0	0	1	0	0	0	2586	933	33	1	1276	1	CALD1	7	134618729	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2448975	134618729	24519934	98	15571										
JHDM1D	80853	genome.wustl.edu	37	chr7	139810954	139810954	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtgtccaggtctaacattgtCtggaatttcaaaggcatgtt	10	7	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:139810954C>G	ENST00000397560.2	-	11	1466	c.1369G>C	c.(1369-1371)Gac>Cac	p.D457H	JHDM1D_ENST00000006967.5_Missense_Mutation_p.D457H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		457					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CTAACATTGTCTGGAATTTCA	0.294																																																	0													120	110	113					7																	139810954		1808	4077	5885	SO:0001583	missense	80853																														ENST00000397560.2:c.1369G>C	7.37:g.139810954C>G	ENSP00000380692:p.Asp457His		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.D457H	ENST00000397560.2	37	c.1369	CCDS43658.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545234	0.86022	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.59364	0.27;0.27	5.3	5.3	0.74995	.	0.047635	0.85682	D	0.000000	T	0.69223	0.3087	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.63381	0.914	T	0.71689	-0.4517	10	0.87932	D	0	-20.4434	19.3098	0.94182	0.0:1.0:0.0:0.0	.	457	Q6ZMT4	KDM7_HUMAN	H	457	ENSP00000380692:D457H;ENSP00000006967:D457H	ENSP00000006967:D457H	D	-	1	0	JHDM1D	139457423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.636000	0.89361	0.655000	0.94253	GAC	JHDM1D	-	NULL		0.294	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	C			139810954	-1	no_errors	ENST00000397560	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139810954	C	G	139810954	3	3	105	1	0	0	0	0	1	0	0	0	7968	913	32	1	1496	1	JHDM1D	7	139810954	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5192225	139810954	19327709	99	15572										
TAS2R41	259287	genome.wustl.edu	37	chr7	143175196	143175197	+	Frame_Shift_Ins	INS	-	-	G													0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cccagaaggtcgagtactctINSgggggtctcggccgacagtt							TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr7:143175196_143175197insG	ENST00000408916.1	+	1	231_232	c.231_232insG	c.(232-234)gggfs	p.G78fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	78					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCGAGTACTCTGGGGGTCTCGG	0.54																																																	0																																										SO:0001589	frameshift_variant	259287			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.236dupG	7.37:g.143175201_143175201dupG	ENSP00000386201:p.Gly78fs		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Frame_Shift_Ins	INS	pfam_TAS2_rcpt	p.L79fs	ENST00000408916.1	37	c.231_232	CCDS43663.1	7																																																																																			TAS2R41	-	pfam_TAS2_rcpt		0.54	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1	-			143175197	1	no_errors	ENST00000408916	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G	G	143175197	-	G	143175196	7	5	105	1	0	1	1	0	0	0	0	0	15609	1567	55	0	233	0	TAS2R41	7	143175196	Frame_Shift_Ins	INS	-	TCGA-EK-A2RA-01A-11D-A18J-09	3364242	143175196	15963467	100	15573										
EPB49	2039	genome.wustl.edu	37	chr8	21927809	21927809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agccagccaaaatcgaaaccGactactggccatgccccccg	8	17	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr8:21927809G>A	ENST00000523266.1	+	8	1030	c.568G>A	c.(568-570)Gac>Aac	p.D190N	DMTN_ENST00000381470.3_Missense_Mutation_p.D190N|DMTN_ENST00000358242.3_Missense_Mutation_p.D190N|DMTN_ENST00000443491.2_Missense_Mutation_p.D165N|DMTN_ENST00000517600.1_Missense_Mutation_p.D150N|DMTN_ENST00000265800.5_Missense_Mutation_p.D190N|DMTN_ENST00000523782.2_Missense_Mutation_p.D165N|DMTN_ENST00000415253.1_Missense_Mutation_p.D190N|DMTN_ENST00000432128.1_Missense_Mutation_p.D190N|DMTN_ENST00000519907.1_Missense_Mutation_p.D190N	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	190					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AATCGAAACCGACTACTGGCC	0.592																																																	0													87	88	87					8																	21927809		2203	4300	6503	SO:0001583	missense	2039			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.568G>A	8.37:g.21927809G>A	ENSP00000427866:p.Asp190Asn		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.D190N	ENST00000523266.1	37	c.568	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975002	0.92919	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	4.79	4.79	0.61399	.	0.111045	0.64402	D	0.000012	T	0.45836	0.1362	L	0.39898	1.24	0.54753	D	0.999986	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998;0.994	D;D;D;P;P;P	0.77557	0.981;0.99;0.99;0.746;0.825;0.736	T	0.24621	-1.0155	9	.	.	.	.	15.6961	0.77499	0.0:0.0:1.0:0.0	.	129;150;190;165;165;190	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	N	190;190;165;150;150;165;190;190;129;190;190;190;190;190	ENSP00000370879:D190N;ENSP00000416111:D190N;ENSP00000397904:D165N;ENSP00000430618:D150N;ENSP00000430382:D165N;ENSP00000428415:D190N;ENSP00000265800:D190N;ENSP00000429948:D190N;ENSP00000350977:D190N;ENSP00000401291:D190N;ENSP00000427866:D190N;ENSP00000429377:D190N	.	D	+	1	0	EPB49	21983755	1.000000	0.71417	0.940000	0.37924	0.703000	0.40648	9.678000	0.98647	2.367000	0.80283	0.511000	0.50034	GAC	EPB49	-	NULL		0.592	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	EPB49	HGNC	protein_coding	OTTHUMT00000375178.1	G	NM_001978		21927809	1	no_errors	ENST00000265800	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21927809	G	A	21927809	3	1	105	1	0	0	0	0	1	0	0	0	5171	1058	37	1	594	1	EPB49	8	21927809	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		21927809	124436213	101	15574										
TEX15	56154	genome.wustl.edu	37	chr8	30704643	30704643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caaaccaaaatctggactttCagaagaacaagtttctttaa	5	8	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr8:30704643C>T	ENST00000256246.2	-	1	1965	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	631					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E631K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTGGACTTTCAGAAGAACAA	0.323																																																	1	Substitution - Missense(1)	lung(1)											63	62	63					8																	30704643		2202	4300	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1891G>A	8.37:g.30704643C>T	ENSP00000256246:p.Glu631Lys			Missense_Mutation	SNP	NULL	p.E631K	ENST00000256246.2	37	c.1891	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638501	0.67130	.	.	ENSG00000133863	ENST00000256246	T	0.12672	2.66	5.36	1.25	0.21368	.	0.981047	0.08340	N	0.961098	T	0.10723	0.0262	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.35748	-0.9776	10	0.87932	D	0	.	6.2204	0.20677	0.0:0.5503:0.2872:0.1625	.	631	Q9BXT5	TEX15_HUMAN	K	631	ENSP00000256246:E631K	ENSP00000256246:E631K	E	-	1	0	TEX15	30824185	0.000000	0.05858	0.001000	0.08648	0.734000	0.41952	0.578000	0.23773	0.326000	0.23384	0.655000	0.94253	GAA	TEX15	-	NULL		0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30704643	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30704643	C	T	30704643	3	4	105	1	0	0	0	0	1	0	0	0	15809	835	29	1	6494	1	TEX15	8	30704643	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	8776834	30704643	115659379	102	15575										
TEX15	56154	genome.wustl.edu	37	chr8	30705057	30705057	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tatgttctctatgttgttttCtacacatgaagcactattct	5	8	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr8:30705057C>G	ENST00000256246.2	-	1	1551	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	493					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGTTGTTTTCTACACATGAA	0.313																																																	0													140	130	134					8																	30705057		2202	4299	6501	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1477G>C	8.37:g.30705057C>G	ENSP00000256246:p.Glu493Gln			Missense_Mutation	SNP	NULL	p.E493Q	ENST00000256246.2	37	c.1477	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123708	0.37436	.	.	ENSG00000133863	ENST00000256246	T	0.12984	2.63	5.43	3.55	0.40652	.	0.300651	0.28488	N	0.015162	T	0.12135	0.0295	L	0.36672	1.1	0.22500	N	0.99904	P	0.50943	0.94	B	0.43301	0.415	T	0.10543	-1.0625	10	0.87932	D	0	.	9.2952	0.37811	0.0:0.7673:0.1491:0.0836	.	493	Q9BXT5	TEX15_HUMAN	Q	493	ENSP00000256246:E493Q	ENSP00000256246:E493Q	E	-	1	0	TEX15	30824599	0.966000	0.33281	0.668000	0.29813	0.026000	0.11368	1.393000	0.34497	1.382000	0.46385	0.585000	0.79938	GAA	TEX15	-	NULL		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30705057	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.946	G	G	30705057	C	G	30705057	3	3	105	1	0	0	0	0	1	0	0	0	15809	922	32	1	6908	1	TEX15	8	30705057	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	414	30705057	115658965	103	15576										
PSKH2	85481	genome.wustl.edu	37	chr8	87076347	87076347	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtataaggcttccttagcaaAacctcaggagctatgtactc	8	10	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr8:87076347A>C	ENST00000276616.2	-	2	773	c.699T>G	c.(697-699)gtT>gtG	p.V233V	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCCTTAGCAAAACCTCAGGAG	0.448																																																	0													90	88	88					8																	87076347		2203	4300	6503	SO:0001819	synonymous_variant	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.699T>G	8.37:g.87076347A>C			A0AV22	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V233	ENST00000276616.2	37	c.699	CCDS6240.1	8																																																																																			PSKH2	-	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		0.448	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	A	NM_033126		87076347	-1	no_errors	ENST00000276616	ensembl	human	known	70_37	silent	SNP	0.841	C	C	87076347	A	C	87076347	2	2	105	1	0	0	0	0	0	0	0	1	12692	1	1	5		5	PSKH2	8	87076347	Silent	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	56371290	87076347	59287675	104	15577										
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885439	88885439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cgctgccttgatttccacagCgcagatcaatgccaaagatc	8	13	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr8:88885439C>T	ENST00000319675.3	-	1	857	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	254										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATTTCCACAGCGCAGATCAAT	0.507																																																	0													121	114	116					8																	88885439		2203	4300	6503	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.761G>A	8.37:g.88885439C>T	ENSP00000316496:p.Arg254His			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R254H	ENST00000319675.3	37	c.761	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	C	14.05	2.421141	0.42918	.	.	ENSG00000176566	ENST00000319675	T	0.23348	1.91	1.92	-0.607	0.11615	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.68593	2.085	0.34258	D	0.679575	D	0.56521	0.976	P	0.51550	0.673	T	0.42666	-0.9438	10	0.66056	D	0.02	.	4.0648	0.09856	0.0:0.5649:0.2491:0.186	.	254	Q8NA75	DC4L2_HUMAN	H	254	ENSP00000316496:R254H	ENSP00000316496:R254H	R	-	2	0	DCAF4L2	88954555	1.000000	0.71417	0.126000	0.21872	0.467000	0.32768	2.541000	0.45735	0.750000	0.32877	0.467000	0.42956	CGC	DCAF4L2	-	superfamily_WD40_repeat_dom		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	C	NM_152418		88885439	-1	no_errors	ENST00000319675	ensembl	human	known	70_37	missense	SNP	0.995	T	T	88885439	C	T	88885439	3	4	105	1	0	0	0	0	1	0	0	0	4277	768	27	2	430	2	DCAF4L2	8	88885439	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1809092	88885439	57478583	105	15578										
FAM135B	51059	genome.wustl.edu	37	chr8	139149461	139149461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gaaatggcacataacggtctTggggagaagcaaccagcacg	13	9	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr8:139149461T>C	ENST00000395297.1	-	19	4114	c.3944A>G	c.(3943-3945)cAa>cGa	p.Q1315R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1315										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATAACGGTCTTGGGGAGAAGC	0.423										HNSCC(54;0.14)																																							0													152	149	150					8																	139149461		1879	4109	5988	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3944A>G	8.37:g.139149461T>C	ENSP00000378710:p.Gln1315Arg		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.Q1315R	ENST00000395297.1	37	c.3944	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896864	0.91962	.	.	ENSG00000147724	ENST00000395297	T	0.44083	0.93	5.92	5.92	0.95590	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.90309	3.105	0.58432	D	0.999994	D	0.69078	0.997	D	0.79108	0.992	T	0.77877	-0.2424	10	0.87932	D	0	-15.4886	15.5416	0.76052	0.0:0.0:0.0:1.0	.	1315	Q49AJ0	F135B_HUMAN	R	1315	ENSP00000378710:Q1315R	ENSP00000378710:Q1315R	Q	-	2	0	FAM135B	139218643	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.975000	0.88055	2.260000	0.74910	0.528000	0.53228	CAA	FAM135B	-	pfam_DUF676_lipase-like		0.423	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	T	NM_015912		139149461	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139149461	T	C	139149461	3	2	105	1	0	0	0	0	1	0	0	0	5464	1812	63	5	284	5	FAM135B	8	139149461	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	50264022	139149461	7214561	106	15579										
RFX3	5991	genome.wustl.edu	37	chr9	3275524	3275524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cagtgctctctataaagactCtgcagtgacttgatatcctc	7	11	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:3275524C>G	ENST00000382004.3	-	10	1373	c.1062G>C	c.(1060-1062)caG>caC	p.Q354H	RFX3_ENST00000358730.2_Missense_Mutation_p.Q354H|RFX3_ENST00000302303.1_Missense_Mutation_p.Q354H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	354					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TATAAAGACTCTGCAGTGACT	0.393																																																	0													122	115	117					9																	3275524		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1062G>C	9.37:g.3275524C>G	ENSP00000371434:p.Gln354His		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.Q354H	ENST00000382004.3	37	c.1062	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162727	0.57368	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.08370	3.1;3.1;3.1	5.72	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	M	0.72353	2.195	0.80722	D	1	D;B;B	0.69078	0.997;0.049;0.036	D;B;B	0.66716	0.946;0.077;0.022	T	0.08166	-1.0735	10	0.15499	T	0.54	-8.0888	14.694	0.69107	0.0:0.9305:0.0:0.0695	.	354;354;354	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	H	354	ENSP00000371434:Q354H;ENSP00000351574:Q354H;ENSP00000303847:Q354H	ENSP00000303847:Q354H	Q	-	3	2	RFX3	3265524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.068000	0.57534	1.422000	0.47177	0.650000	0.86243	CAG	RFX3	-	NULL		0.393	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	C	NM_002919		3275524	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3275524	C	G	3275524	3	3	105	1	0	0	0	0	1	0	0	0	13294	912	32	1	1379	1	RFX3	9	3275524	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		3275524	137937907	107	15580										
RANBP6	26953	genome.wustl.edu	37	chr9	6012865	6012865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atttagtagcattggccaccGaaaatattctacatatttaa	5	7	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:6012865G>A	ENST00000259569.5	-	1	2753	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	915					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTGGCCACCGAAAATATTCT	0.443																																																	0													67	63	65					9																	6012865		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2743C>T	9.37:g.6012865G>A	ENSP00000259569:p.Arg915Trp		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R915W	ENST00000259569.5	37	c.2743	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906956	0.33628	.	.	ENSG00000137040	ENST00000259569	T	0.68181	-0.31	4.46	2.6	0.31112	Armadillo-like helical (1);Armadillo-type fold (2);	0.151374	0.44688	D	0.000433	T	0.33876	0.0878	N	0.08118	0	0.32978	D	0.523207	P;P;P	0.44627	0.839;0.737;0.839	B;B;B	0.23275	0.045;0.031;0.045	T	0.52555	-0.8560	10	0.72032	D	0.01	-7.4196	7.5938	0.28035	0.0892:0.0:0.7465:0.1644	.	82;503;915	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	W	915	ENSP00000259569:R915W	ENSP00000259569:R915W	R	-	1	2	RANBP6	6002865	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.352000	0.59404	0.796000	0.33947	0.650000	0.86243	CGG	RANBP6	-	superfamily_ARM-type_fold		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	G	NM_012416		6012865	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6012865	G	A	6012865	3	1	105	1	0	0	0	0	1	0	0	0	13061	1057	37	1	578	1	RANBP6	9	6012865	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2737341	6012865	135200566	108	15581										
DENND4C	55667	genome.wustl.edu	37	chr9	19352601	19352601	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttgaatacagcttgtccattCtgtaaaagcaacttcttgcc	6	10	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:19352601C>T	ENST00000380432.2	+	21	3897	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F	DENND4C_ENST00000602925.1_Silent_p.F1524F|DENND4C_ENST00000434457.2_Silent_p.F1573F			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1288					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTGTCCATTCTGTAAAAGCA	0.378																																																	0													103	99	100					9																	19352601		2203	4300	6503	SO:0001819	synonymous_variant	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3864C>T	9.37:g.19352601C>T			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.F1288	ENST00000380432.2	37	c.3864		9																																																																																			DENND4C	-	NULL		0.378	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19352601	1	no_errors	ENST00000380437	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19352601	C	T	19352601	2	4	105	1	0	0	0	0	0	0	0	1	4445	912	32	1		1	DENND4C	9	19352601	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	13339736	19352601	121860830	109	15582										
RUSC2	9853	genome.wustl.edu	37	chr9	35548064	35548064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tccgcctgggctcgctggaaCgtatgttgagttgcccagtg	14	11	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:35548064C>T	ENST00000455600.1	+	2	2115	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	516						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGCTGGAACGTATGTTGAG	0.657																																																	0													33	34	34					9																	35548064		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1546C>T	9.37:g.35548064C>T	ENSP00000393922:p.Arg516Cys		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.R516C	ENST00000455600.1	37	c.1546	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076872	0.76415	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.48522	0.81;0.81	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63642	-0.6591	10	0.87932	D	0	-17.0841	18.3278	0.90260	0.0:1.0:0.0:0.0	.	516	Q8N2Y8	RUSC2_HUMAN	C	516	ENSP00000355177:R516C;ENSP00000393922:R516C	ENSP00000355177:R516C	R	+	1	0	RUSC2	35538064	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.353000	0.79414	2.569000	0.86673	0.655000	0.94253	CGT	RUSC2	-	NULL		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	C	XM_048462		35548064	1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35548064	C	T	35548064	3	4	105	1	0	0	0	0	1	0	0	0	13781	536	19	2	1548	2	RUSC2	9	35548064	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	16195463	35548064	105665367	110	15583										
ALAD	210	genome.wustl.edu	37	chr9	116153117	116153117	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gtagggacacaggcagacatCacaggccaccaggaggttgg	15	10	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:116153117C>T	ENST00000409155.3	-	5	554	c.358G>A	c.(358-360)Gat>Aat	p.D120N	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.D103N	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	120					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	AGGCAGACATCACAGGCCACC	0.607																																																	0													100	86	91					9																	116153117		2203	4300	6503	SO:0001583	missense	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.358G>A	9.37:g.116153117C>T	ENSP00000386284:p.Asp120Asn		A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.D120N	ENST00000409155.3	37	c.358	CCDS6794.2	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021234	0.75275	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.95377	-3.69;-3.69	5.67	5.67	0.87782	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99316	1.0905	10	0.87932	D	0	-8.931	18.3566	0.90359	0.0:1.0:0.0:0.0	.	120;103;149	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	N	120;103	ENSP00000386284:D120N;ENSP00000277315:D103N	ENSP00000277315:D103N	D	-	1	0	ALAD	115192938	0.998000	0.40836	0.467000	0.27180	0.158000	0.22134	5.577000	0.67444	2.667000	0.90743	0.563000	0.77884	GAT	ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth		0.607	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3	C	NM_001003945		116153117	-1	no_errors	ENST00000409155	ensembl	human	known	70_37	missense	SNP	0.998	T	T	116153117	C	T	116153117	3	4	105	1	0	0	0	0	1	0	0	0	483	826	29	1	666	1	ALAD	9	116153117	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	80605053	116153117	25060314	111	15584										
RGS3	5998	genome.wustl.edu	37	chr9	116357919	116357919	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gccttccttcgcactgagttCagtgaggagaatctggagtt	12	9	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:116357919C>A	ENST00000374140.2	+	25	3494	c.3285C>A	c.(3283-3285)ttC>ttA	p.F1095L	RGS3_ENST00000350696.5_Missense_Mutation_p.F1095L|RGS3_ENST00000394646.3_Missense_Mutation_p.F488L|RGS3_ENST00000342620.5_Missense_Mutation_p.F65L|RGS3_ENST00000462143.1_Missense_Mutation_p.F416L|RGS3_ENST00000462403.1_Missense_Mutation_p.F208L|RGS3_ENST00000343817.5_Missense_Mutation_p.F814L|RGS3_ENST00000374134.3_Missense_Mutation_p.F416L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1095	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCACTGAGTTCAGTGAGGAGA	0.507																																																	0													210	165	180					9																	116357919		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3285C>A	9.37:g.116357919C>A	ENSP00000363255:p.Phe1095Leu		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.F1095L	ENST00000374140.2	37	c.3285	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555808	0.86231	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.37	-0.703	0.11261	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.84683	2.71	0.50632	D	0.999884	D;P;D;D;D;D	0.71674	0.994;0.944;0.997;0.997;0.998;0.996	D;D;D;D;D;D	0.79784	0.952;0.946;0.984;0.988;0.993;0.993	T	0.57590	-0.7785	10	0.87932	D	0	.	11.9604	0.53005	0.0:0.8515:0.0:0.1485	.	488;208;991;814;985;1095	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	L	1095;1095;814;488;263;416;65;416;208	ENSP00000363255:F1095L;ENSP00000259406:F1095L;ENSP00000340284:F814L;ENSP00000378141:F488L;ENSP00000420356:F416L;ENSP00000343359:F65L;ENSP00000363249:F416L;ENSP00000436168:F208L	ENSP00000343359:F65L	F	+	3	2	RGS3	115397740	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	1.349000	0.33998	-0.416000	0.07473	0.456000	0.33151	TTC	RGS3	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.507	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	C	NM_017790		116357919	1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116357919	C	A	116357919	3	1	105	1	0	0	0	0	1	0	0	0	13336	825	29	3	4055	3	RGS3	9	116357919	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	204802	116357919	24855512	112	15585										
RXRA	6256	genome.wustl.edu	37	chr9	137300845	137300845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcttcttcaagcggacggtgCgcaaggacctgacctacacc	11	14	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:137300845C>T	ENST00000481739.1	+	4	542	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	RXRA_ENST00000540193.1_Missense_Mutation_p.R67C|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	164					camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCGGACGGTGCGCAAGGACCT	0.642																																																	0													129	106	113					9																	137300845		2203	4300	6503	SO:0001583	missense	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.490C>T	9.37:g.137300845C>T	ENSP00000419692:p.Arg164Cys		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt	p.R164C	ENST00000481739.1	37	c.490	CCDS35172.1	9	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933824	0.73442	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.97480	-4.4;-4.4	4.25	3.34	0.38264	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98397	0.9467	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98314	1.0525	10	0.87932	D	0	.	9.0199	0.36193	0.1456:0.7731:0.0:0.0812	.	164	P19793	RXRA_HUMAN	C	164;67	ENSP00000419692:R164C;ENSP00000442123:R67C	ENSP00000419692:R164C	R	+	1	0	RXRA	136440666	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.934000	0.48956	0.883000	0.36040	0.561000	0.74099	CGC	RXRA	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.642	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	C	NM_002957		137300845	1	no_errors	ENST00000481739	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137300845	C	T	137300845	3	4	105	1	0	0	0	0	1	0	0	0	13793	768	27	2	504	2	RXRA	9	137300845	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	20942926	137300845	3912586	113	15586										
C9orf116	138162	genome.wustl.edu	37	chr9	138387442	138387442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gttgttgggaaaatttattcGaatttggataaaatactttc	8	3	0	0	rs141771436	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr9:138387442G>C	ENST00000429260.2	-	3	262	c.242C>G	c.(241-243)tCg>tGg	p.S81W	C9orf116_ENST00000371789.3_Intron|C9orf116_ENST00000371791.1_Intron	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	81															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		AAATTTATTCGAATTTGGATA	0.368																																																	0													71	66	68					9																	138387442		2203	4300	6503	SO:0001583	missense	138162			BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.242C>G	9.37:g.138387442G>C	ENSP00000395281:p.Ser81Trp		Q5T897|Q8WU44	Missense_Mutation	SNP	NULL	p.S81W	ENST00000429260.2	37	c.242	CCDS43899.1	9	.	.	.	.	.	.	.	.	.	.	G	14.57	2.576346	0.45902	.	.	ENSG00000160345	ENST00000429260	.	.	.	5.03	1.99	0.26369	.	3.139920	0.00956	N	0.003029	T	0.49949	0.1587	M	0.73962	2.25	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.28586	-1.0039	9	0.54805	T	0.06	-5.1917	4.7719	0.13160	0.0818:0.1487:0.6153:0.1541	.	81	Q5BN46	CI116_HUMAN	W	81	.	ENSP00000395281:S81W	S	-	2	0	C9orf116	137527263	0.115000	0.22152	0.001000	0.08648	0.239000	0.25481	2.556000	0.45862	0.509000	0.28195	0.650000	0.86243	TCG	C9orf116	-	NULL		0.368	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf116	HGNC	protein_coding	OTTHUMT00000054985.2	G	NM_144654		138387442	-1	no_errors	ENST00000429260	ensembl	human	known	70_37	missense	SNP	0.001	C	C	138387442	G	C	138387442	3	2	105	1	0	0	0	0	1	0	0	0	2455	1059	37	1	172	1	C9orf116	9	138387442	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1086597	138387442	2825989	114	15587										
WDR37	22884	genome.wustl.edu	37	chr10	1142135	1142135	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggagatcagactgctcatatCtggagatacgcggtgcagct	13	9	3	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr10:1142135C>T	ENST00000358220.1	+	9	819	c.675C>T	c.(673-675)atC>atT	p.I225I	WDR37_ENST00000381329.1_Silent_p.I225I|WDR37_ENST00000263150.4_Silent_p.I225I			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	225			I -> V (in dbSNP:rs2306407).							breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGCTCATATCTGGAGATACG	0.512																																																	0													130	113	119					10																	1142135		2203	4300	6503	SO:0001819	synonymous_variant	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.675C>T	10.37:g.1142135C>T			A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I225	ENST00000358220.1	37	c.675	CCDS7057.1	10																																																																																			WDR37	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.512	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	C	NM_014023		1142135	1	no_errors	ENST00000263150	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1142135	C	T	1142135	2	4	105	1	0	0	0	0	0	0	0	1	17322	903	32	1		1	WDR37	10	1142135	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		1142135	134392612	115	15588										
ACBD5	91452	genome.wustl.edu	37	chr10	27486362	27486362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggaaaacaccattttcctcaGttcagttttctttaaaaaga	5	8	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr10:27486362G>T	ENST00000375888.1	-	13	1666	c.1602C>A	c.(1600-1602)aaC>aaA	p.N534K	ACBD5_ENST00000375901.1_Missense_Mutation_p.N416K|ACBD5_ENST00000375897.3_Missense_Mutation_p.N348K|ACBD5_ENST00000375905.4_Missense_Mutation_p.N490K|ACBD5_ENST00000396271.3_Missense_Mutation_p.N525K			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	534					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATTTTCCTCAGTTCAGTTTTC	0.318																																																	0													86	76	79					10																	27486362		2203	4300	6503	SO:0001583	missense	91452			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1602C>A	10.37:g.27486362G>T	ENSP00000365049:p.Asn534Lys		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.N534K	ENST00000375888.1	37	c.1602		10	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539827	0.45176	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.40225	2.07;1.85;1.04;1.2;2.13	5.86	1.73	0.24493	.	0.239682	0.47093	D	0.000244	T	0.38612	0.1047	N	0.19112	0.55	0.26290	N	0.978142	P;D;D	0.59767	0.925;0.986;0.961	B;P;B	0.57960	0.436;0.83;0.335	T	0.18999	-1.0319	10	0.87932	D	0	.	7.882	0.29627	0.3615:0.0:0.6385:0.0	.	525;348;523	Q5T8D3-3;B7Z2A7;B7Z2R7	.;.;.	K	531;525;490;416;348;534	ENSP00000379568:N525K;ENSP00000365070:N490K;ENSP00000365066:N416K;ENSP00000365062:N348K;ENSP00000365049:N534K	ENSP00000365049:N534K	N	-	3	2	ACBD5	27526368	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	1.387000	0.34430	0.323000	0.23307	0.650000	0.86243	AAC	ACBD5	-	pirsf_M-assoc_diazepam-bd-inh		0.318	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1	G	NM_145698		27486362	-1	no_errors	ENST00000375888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27486362	G	T	27486362	3	4	105	1	0	0	0	0	1	0	0	0	125	1020	36	4	6	4	ACBD5	10	27486362	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	26344227	27486362	108048385	116	15589										
SGMS1	259230	genome.wustl.edu	37	chr10	52067007	52067007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggtacaattccttggacattCttttcaaagtactgaaatgg	8	7	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr10:52067007C>G	ENST00000361781.2	-	11	2096	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	SGMS1_ENST00000429490.1_Missense_Mutation_p.K210N	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	385					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTTGGACATTCTTTTCAAAGT	0.473																																																	0													119	104	109					10																	52067007		2203	4300	6503	SO:0001583	missense	259230			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.1137G>C	10.37:g.52067007C>G	ENSP00000354829:p.Lys379Asn		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM	p.K379N	ENST00000361781.2	37	c.1137	CCDS7240.1	10	.	.	.	.	.	.	.	.	.	.	C	6.898	0.535227	0.13188	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	T	0.46063	0.88	5.58	5.58	0.84498	.	0.165319	0.56097	D	0.000038	T	0.33702	0.0872	L	0.34521	1.04	0.80722	D	1	P;P	0.36789	0.565;0.57	B;B	0.35114	0.156;0.196	T	0.05517	-1.0880	10	0.20519	T	0.43	-21.1088	17.4347	0.87548	0.0:1.0:0.0:0.0	.	210;385	B4DJU2;Q86VZ5	.;SMS1_HUMAN	N	179;379;210	ENSP00000354829:K379N	ENSP00000354829:K379N	K	-	3	2	SGMS1	51737013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.985000	0.49362	2.782000	0.95742	0.655000	0.94253	AAG	SGMS1	-	NULL		0.473	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SGMS1	HGNC	protein_coding	OTTHUMT00000048074.2	C	NM_147156		52067007	-1	no_errors	ENST00000361781	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52067007	C	G	52067007	3	3	105	1	0	0	0	0	1	0	0	0	14244	912	32	1	108	1	SGMS1	10	52067007	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	24580645	52067007	83467740	117	15590										
NDST2	8509	genome.wustl.edu	37	chr10	75562497	75562497	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acagcgagtcttaccaccttCaagtccctggcaccaaaatc	6	15	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr10:75562497C>G	ENST00000309979.6	-	14	3017	c.2461G>C	c.(2461-2463)Gaa>Caa	p.E821Q	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.L808F|ZSWIM8-AS1_ENST00000456638.2_RNA|NDST2_ENST00000299641.4_Missense_Mutation_p.E698Q			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	821	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TTACCACCTTCAAGTCCCTGG	0.512																																																	0													99	96	97					10																	75562497		2203	4300	6503	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2461G>C	10.37:g.75562497C>G	ENSP00000310657:p.Glu821Gln		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.E821Q	ENST00000309979.6	37	c.2461	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736061	0.69189	.	.	ENSG00000166507	ENST00000309979;ENST00000299641;ENST00000429742	T;T;T	0.54279	0.58;0.58;0.58	6.07	6.07	0.98685	Sulfotransferase domain (1);	0.091135	0.85682	D	0.000000	T	0.58935	0.2157	M	0.74881	2.28	0.49915	D	0.999836	B	0.33904	0.431	B	0.33750	0.169	T	0.59257	-0.7488	10	0.51188	T	0.08	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	821	P52849	NDST2_HUMAN	Q	821;698;102	ENSP00000310657:E821Q;ENSP00000299641:E698Q;ENSP00000392733:E102Q	ENSP00000299641:E698Q	E	-	1	0	NDST2	75232503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.884000	0.98904	0.655000	0.94253	GAA	NDST2	-	pfam_Sulfotransferase_dom		0.512	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	C	NM_003635		75562497	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75562497	C	G	75562497	3	3	105	1	0	0	0	0	1	0	0	0	10280	835	29	1	198	1	NDST2	10	75562497	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	23495490	75562497	59972250	118	15591										
LSP1	4046	genome.wustl.edu	37	chr11	1908067	1908067	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agacgggtgaggtacaggctCagtctgcggccaagactccg	15	11	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:1908067C>T	ENST00000311604.3	+	8	998	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	LSP1_ENST00000406638.2_Nonsense_Mutation_p.Q213*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.Q403*|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Nonsense_Mutation_p.Q213*	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	275					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGTACAGGCTCAGTCTGCGGC	0.652																																																	0													35	38	37					11																	1908067		2202	4294	6496	SO:0001587	stop_gained	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.823C>T	11.37:g.1908067C>T	ENSP00000308383:p.Gln275*		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Nonsense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.Q275*	ENST00000311604.3	37	c.823	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	28.9	4.963308	0.92791	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	.	.	.	3.3	3.3	0.37823	.	0.000000	0.37393	N	0.002104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-33.6863	12.8897	0.58064	0.0:1.0:0.0:0.0	.	.	.	.	X	275;403;213;266;213;213;213	.	ENSP00000308383:Q275X	Q	+	1	0	LSP1	1864643	1.000000	0.71417	0.988000	0.46212	0.357000	0.29423	3.074000	0.50065	1.850000	0.53721	0.455000	0.32223	CAG	LSP1	-	pfam_Caldesmon_LSP,prints_Lymphspecific		0.652	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	C	NM_002339		1908067	1	no_errors	ENST00000311604	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	1908067	C	T	1908067	4	4	105	1	0	0	0	0	0	1	0	0	9086	827	29	1	853	1	LSP1	11	1908067	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		1908067	133098449	119	15592										
LRRC4C	57689	genome.wustl.edu	37	chr11	40137255	40137255	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttcaaatacctcaagttggaCagaccttcaaaggcaccttc	6	12	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:40137255C>A	ENST00000278198.2	-	2	2551	c.588G>T	c.(586-588)ctG>ctT	p.L196L	LRRC4C_ENST00000530763.1_Silent_p.L196L|LRRC4C_ENST00000527150.1_Silent_p.L196L|LRRC4C_ENST00000528697.1_Silent_p.L196L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	196					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAAGTTGGACAGACCTTCAA	0.438																																																	0													94	91	92					11																	40137255		2203	4300	6503	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.588G>T	11.37:g.40137255C>A			A8K0T1|Q7L0N3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L196	ENST00000278198.2	37	c.588	CCDS31464.1	11																																																																																			LRRC4C	-	smart_Leu-rich_rpt_typical-subtyp		0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	C	NM_020929		40137255	-1	no_errors	ENST00000527150	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40137255	C	A	40137255	2	1	105	1	0	0	0	0	0	0	0	1	9031	465	17	4		4	LRRC4C	11	40137255	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	38229188	40137255	94869261	120	15593										
OR10Q1	219960	genome.wustl.edu	37	chr11	57995864	57995864	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gaagattaaggcggtgagctGcagggaggggaagagggcca	20	5	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:57995864G>A	ENST00000316770.2	-	1	526	c.484C>T	c.(484-486)Cag>Tag	p.Q162*		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCGGTGAGCTGCAGGGAGGGG	0.652																																																	0													54	48	50					11																	57995864		2201	4295	6496	SO:0001587	stop_gained	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.484C>T	11.37:g.57995864G>A	ENSP00000314324:p.Gln162*		Q6IFG4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q162*	ENST00000316770.2	37	c.484	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620752	0.28889	.	.	ENSG00000180475	ENST00000316770	.	.	.	4.67	3.74	0.42951	.	0.587226	0.14167	N	0.336976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	12.8933	0.58084	0.0:0.0:0.8361:0.1639	.	.	.	.	X	162	.	ENSP00000314324:Q162X	Q	-	1	0	OR10Q1	57752440	0.000000	0.05858	0.935000	0.37517	0.027000	0.11550	0.078000	0.14761	1.158000	0.42547	0.650000	0.86243	CAG	OR10Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.652	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1	G	NM_001004471		57995864	-1	no_errors	ENST00000316770	ensembl	human	known	70_37	nonsense	SNP	0.966	A	A	57995864	G	A	57995864	4	1	105	1	0	0	0	0	0	1	0	0	10940	1328	46	4	479	4	OR10Q1	11	57995864	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	17858609	57995864	77010652	121	15594										
FIBP	9158	genome.wustl.edu	37	chr11	65653836	65653836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gaagtgttgctgaatattgtCcaccagggagccccgcattt	11	10	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:65653836C>T	ENST00000338369.2	-	4	581	c.469G>A	c.(469-471)Gac>Aac	p.D157N	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Missense_Mutation_p.D154N|FIBP_ENST00000357519.4_Missense_Mutation_p.D157N	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	157					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGAATATTGTCCACCAGGGAG	0.562																																																	0													166	134	145					11																	65653836		2201	4296	6497	SO:0001583	missense	9158			AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.469G>A	11.37:g.65653836C>T	ENSP00000344572:p.Asp157Asn		A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	pfam_FIBP	p.D157N	ENST00000338369.2	37	c.469	CCDS8119.1	11	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138572	0.37728	.	.	ENSG00000172500	ENST00000338369;ENST00000357519;ENST00000533045	T;T;T	0.22336	1.96;1.96;1.96	4.3	4.3	0.51218	.	0.114707	0.56097	D	0.000023	T	0.08980	0.0222	N	0.03608	-0.345	0.45930	D	0.998763	B;B;B	0.31413	0.322;0.0;0.0	B;B;B	0.31191	0.125;0.0;0.001	T	0.21348	-1.0248	10	0.08837	T	0.75	-12.0054	14.3013	0.66355	0.0:1.0:0.0:0.0	.	154;157;157	E9PSD3;O43427-2;O43427	.;.;FIBP_HUMAN	N	157;157;154	ENSP00000344572:D157N;ENSP00000350124:D157N;ENSP00000434043:D154N	ENSP00000344572:D157N	D	-	1	0	FIBP	65410412	1.000000	0.71417	0.102000	0.21198	0.953000	0.61014	6.762000	0.74950	2.216000	0.71823	0.462000	0.41574	GAC	FIBP	-	pfam_FIBP		0.562	FIBP-001	KNOWN	basic|CCDS	protein_coding	FIBP	HGNC	protein_coding	OTTHUMT00000391575.2	C	NM_198897		65653836	-1	no_errors	ENST00000338369	ensembl	human	known	70_37	missense	SNP	0.900	T	T	65653836	C	T	65653836	3	4	105	1	0	0	0	0	1	0	0	0	5904	855	30	1	653	1	FIBP	11	65653836	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7657972	65653836	69352680	122	15595										
KDM2A	22992	genome.wustl.edu	37	chr11	66975147	66975147	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aggctggagaatatggtgcaGaggccctccacggttagtgt	15	8	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:66975147G>A	ENST00000529006.2	+	6	920	c.474G>A	c.(472-474)caG>caA	p.Q158Q	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.Q158Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	158	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ATATGGTGCAGAGGCCCTCCA	0.478																																																	0													58	60	60					11																	66975147		1969	4150	6119	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.474G>A	11.37:g.66975147G>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q158	ENST00000529006.2	37	c.474	CCDS44657.1	11																																																																																			KDM2A	-	smart_JmjC_dom,pfscan_JmjC_dom		0.478	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66975147	1	no_errors	ENST00000529006	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66975147	G	A	66975147	2	1	105	1	0	0	0	0	0	0	0	1	8144	933	33	1		1	KDM2A	11	66975147	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1321311	66975147	68031369	123	15596										
ARAP1	116985	genome.wustl.edu	37	chr11	72415360	72415360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agaagcggttcccagcgccaTtccccagctgtaagaagagc	11	13	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:72415360T>C	ENST00000393609.3	-	14	2031	c.1829A>G	c.(1828-1830)aAt>aGt	p.N610S	ARAP1_ENST00000393605.3_Missense_Mutation_p.N370S|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000359373.5_Missense_Mutation_p.N610S|ARAP1_ENST00000426523.1_Missense_Mutation_p.N365S|ARAP1_ENST00000334211.8_Missense_Mutation_p.N365S|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.N610S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	610	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCAGCGCCATTCCCCAGCTG	0.672																																					Ovarian(102;1198 1520 13195 17913 37529)												0													16	19	18					11																	72415360		2199	4292	6491	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1829A>G	11.37:g.72415360T>C	ENSP00000377233:p.Asn610Ser		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.N610S	ENST00000393609.3	37	c.1829	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360855	0.82353	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000340247	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.87456	2.885	0.43782	D	0.996319	D;P;D;D	0.71674	0.996;0.747;0.996;0.998	D;P;D;D	0.71870	0.975;0.477;0.975;0.974	D	0.85029	0.0916	10	0.49607	T	0.09	.	14.2758	0.66179	0.0:0.0:0.0:1.0	.	365;610;610;370	E7EU13;Q96P48-3;Q96P48;Q96P48-1	.;.;ARAP1_HUMAN;.	S	610;610;370;365;610;365;399	ENSP00000352332:N610S;ENSP00000390461:N610S;ENSP00000377230:N370S;ENSP00000335506:N365S;ENSP00000377233:N610S;ENSP00000392264:N365S	ENSP00000335506:N365S	N	-	2	0	ARAP1	72093008	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.005000	0.88553	2.071000	0.62044	0.533000	0.62120	AAT	ARAP1	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.672	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	T	NM_001040118		72415360	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72415360	T	C	72415360	3	2	105	1	0	0	0	0	1	0	0	0	838	1493	52	5	2611	5	ARAP1	11	72415360	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	5440213	72415360	62591156	124	15597										
ANKRD42	338699	genome.wustl.edu	37	chr11	82938887	82938887	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcaatattaatgagcgtgctGataatggatcaactcctatg	8	7	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:82938887G>A	ENST00000393392.2	+	7	964	c.802G>A	c.(802-804)Gat>Aat	p.D268N	ANKRD42_ENST00000533342.1_Missense_Mutation_p.D296N|ANKRD42_ENST00000531895.1_Missense_Mutation_p.D296N|ANKRD42_ENST00000260047.6_Missense_Mutation_p.D295N	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	268					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGAGCGTGCTGATAATGGATC	0.378																																																	0													144	130	135					11																	82938887		2203	4300	6503	SO:0001583	missense	338699			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.802G>A	11.37:g.82938887G>A	ENSP00000377051:p.Asp268Asn		Q49A49	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D268N	ENST00000393392.2	37	c.802	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614685	0.28712	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342;ENST00000342658;ENST00000531815	T;T;T;T;D	0.81579	2.56;2.56;2.56;2.56;-1.51	5.2	1.37	0.22104	Ankyrin repeat-containing domain (4);	0.439107	0.23515	N	0.047344	T	0.58949	0.2158	N	0.16066	0.365	0.34529	D	0.709026	B;B;B;B	0.17465	0.01;0.007;0.01;0.022	B;B;B;B	0.18561	0.015;0.022;0.015;0.02	T	0.50381	-0.8835	9	.	.	.	-1.8501	5.1516	0.15013	0.2756:0.1777:0.5467:0.0	.	296;560;387;268	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	N	295;296;268;296;36;21	ENSP00000260047:D295N;ENSP00000434666:D296N;ENSP00000377051:D268N;ENSP00000435790:D296N;ENSP00000435197:D21N	.	D	+	1	0	ANKRD42	82616535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.831000	0.39141	0.414000	0.25790	0.561000	0.74099	GAT	ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.378	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	G	NM_182603		82938887	1	no_errors	ENST00000393392	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82938887	G	A	82938887	3	1	105	1	0	0	0	0	1	0	0	0	670	1290	45	1	828	1	ANKRD42	11	82938887	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	10523527	82938887	52067629	125	15598										
GRM5	2915	genome.wustl.edu	37	chr11	88780671	88780671	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cacacagcgtaccaagccttCttcctcttctgaagaaatga	6	13	3	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:88780671C>T	ENST00000305447.4	-	1	519	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	GRM5_ENST00000305432.5_Missense_Mutation_p.E124K|GRM5_ENST00000455756.2_Missense_Mutation_p.E124K|GRM5_ENST00000393297.1_Missense_Mutation_p.E124K|GRM5_ENST00000418177.2_Missense_Mutation_p.E124K|GRM5_ENST00000393294.3_Missense_Mutation_p.E124K	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	124					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACCAAGCCTTCTTCCTCTTCT	0.532																																																	0													84	73	77					11																	88780671		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.370G>A	11.37:g.88780671C>T	ENSP00000306138:p.Glu124Lys		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.E124K	ENST00000305447.4	37	c.370	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586067	0.46110	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.93953	-2.32;-2.32;-2.32;-2.32;-2.35;-3.32	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.67397	2.05	0.58432	D	0.999992	B;B;P	0.36683	0.009;0.328;0.565	B;B;B	0.37550	0.017;0.085;0.253	D	0.91214	0.5001	9	.	.	.	.	15.5358	0.76001	0.0:0.8617:0.1383:0.0	.	124;124;124	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	K	124	ENSP00000402912:E124K;ENSP00000405690:E124K;ENSP00000305905:E124K;ENSP00000306138:E124K;ENSP00000376975:E124K;ENSP00000376972:E124K	.	E	-	1	0	GRM5	88420319	1.000000	0.71417	0.933000	0.37362	0.624000	0.37722	4.793000	0.62474	2.514000	0.84764	0.563000	0.77884	GAA	GRM5	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_5		0.532	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	C	NM_000842		88780671	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88780671	C	T	88780671	3	4	105	1	0	0	0	0	1	0	0	0	6820	922	32	1	3304	1	GRM5	11	88780671	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5841784	88780671	46225845	126	15599										
DSCAML1	57453	genome.wustl.edu	37	chr11	117651364	117651364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gacgtgccggatgtgcggcaCgtcgtagatgtcgtcccctg	15	12	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:117651364C>T	ENST00000321322.6	-	2	389	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	70	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGTGCGGCACGTCGTAGATG	0.652																																																	0													114	116	115					11																	117651364		2200	4296	6496	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.388G>A	11.37:g.117651364C>T	ENSP00000315465:p.Val130Met		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V130M	ENST00000321322.6	37	c.388	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613460	0.87359	.	.	ENSG00000177103	ENST00000321322	T	0.62105	0.05	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78761	0.4334	M	0.65677	2.01	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.80674	-0.1277	9	0.72032	D	0.01	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	70	Q8TD84	DSCL1_HUMAN	M	130	ENSP00000315465:V130M	ENSP00000315465:V130M	V	-	1	0	DSCAML1	117156574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.536000	0.85505	0.563000	0.77884	GTG	DSCAML1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117651364	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117651364	C	T	117651364	3	4	105	1	0	0	0	0	1	0	0	0	4779	536	19	2	6081	2	DSCAML1	11	117651364	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	28870693	117651364	17355152	127	15600										
NLRX1	79671	genome.wustl.edu	37	chr11	119050704	119050704	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctggagaatgcccaggccatCaagaagaagctgggcaagct	13	10	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:119050704C>G	ENST00000409109.1	+	7	2561	c.1974C>G	c.(1972-1974)atC>atG	p.I658M	NLRX1_ENST00000525863.1_Missense_Mutation_p.I658M|NLRX1_ENST00000292199.2_Missense_Mutation_p.I658M|NLRX1_ENST00000409991.1_Missense_Mutation_p.I658M|NLRX1_ENST00000409265.4_Missense_Mutation_p.I658M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	658	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAGGCCATCAAGAAGAAGC	0.597																																																	0													27	28	28					11																	119050704		2200	4294	6494	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1974C>G	11.37:g.119050704C>G	ENSP00000387334:p.Ile658Met		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.I658M	ENST00000409109.1	37	c.1974	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703699	0.30232	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.74002	-0.75;-0.75;-0.8;-0.75;-0.8	5.33	3.11	0.35812	.	0.148018	0.47455	D	0.000233	T	0.51278	0.1665	N	0.12182	0.205	0.29918	N	0.822962	B;B	0.33637	0.42;0.209	B;B	0.32289	0.143;0.051	T	0.50890	-0.8774	10	0.33940	T	0.23	.	7.0165	0.24890	0.0:0.554:0.2593:0.1867	.	658;658	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	658	ENSP00000386851:I658M;ENSP00000292199:I658M;ENSP00000386858:I658M;ENSP00000387334:I658M;ENSP00000433442:I658M	ENSP00000292199:I658M	I	+	3	3	NLRX1	118555914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.470000	0.45119	1.255000	0.44051	0.561000	0.74099	ATC	NLRX1	-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119050704	1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119050704	C	G	119050704	3	3	105	1	0	0	0	0	1	0	0	0	10509	816	29	1	1996	1	NLRX1	11	119050704	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1399340	119050704	15955812	128	15601										
TECTA	7007	genome.wustl.edu	37	chr11	121060587	121060587	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggaggacggcaagagctgcaGaggtagacactcttctaccc	13	11	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr11:121060587G>A	ENST00000392793.1	+	23	6636	c.6365G>A	c.(6364-6366)aGa>aAa	p.R2122K	TECTA_ENST00000264037.2_Missense_Mutation_p.R2122K			O75443	TECTA_HUMAN	tectorin alpha	2122					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAGCTGCAGAGGTAGACAC	0.572																																																	0													80	73	76					11																	121060587		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6365G>A	11.37:g.121060587G>A	ENSP00000376543:p.Arg2122Lys			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.R2122K	ENST00000392793.1	37	c.6365	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545582	0.65198	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95447	-3.71;-3.71	5.71	5.71	0.89125	Epidermal growth factor-like (1);	0.061365	0.64402	D	0.000006	D	0.91236	0.7238	N	0.16602	0.42	0.40179	D	0.977271	P	0.38827	0.649	B	0.36186	0.219	D	0.91670	0.5349	10	0.51188	T	0.08	.	19.4679	0.94950	0.0:0.0:1.0:0.0	.	2122	O75443	TECTA_HUMAN	K	2122	ENSP00000376543:R2122K;ENSP00000264037:R2122K	ENSP00000264037:R2122K	R	+	2	0	TECTA	120565797	1.000000	0.71417	0.987000	0.45799	0.796000	0.44982	4.440000	0.59975	2.698000	0.92095	0.561000	0.74099	AGA	TECTA	-	smart_EG-like_dom		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	G	NM_005422		121060587	1	no_errors	ENST00000264037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121060587	G	A	121060587	3	1	105	1	0	0	0	0	1	0	0	0	15777	942	33	1	6451	1	TECTA	11	121060587	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2009883	121060587	13945929	129	15602										
KCNA1	3736	genome.wustl.edu	37	chr12	5020634	5020634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tacccccggcaggccgaccaCgacgaccacgagtgctgcga	12	17	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:5020634C>T	ENST00000382545.3	+	2	1197	c.90C>T	c.(88-90)caC>caT	p.H30H	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	30					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGGCCGACCACGACGACCACG	0.682																																																	0													31	33	33					12																	5020634		2203	4300	6503	SO:0001819	synonymous_variant	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.90C>T	12.37:g.5020634C>T			A6NM83|Q3MIQ9	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.H30	ENST00000382545.3	37	c.90	CCDS8535.1	12																																																																																			KCNA1	-	prints_K_chnl_volt-dep_Kv1.3		0.682	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020634	1	no_errors	ENST00000382545	ensembl	human	known	70_37	silent	SNP	0.993	T	T	5020634	C	T	5020634	2	4	105	1	0	0	0	0	0	0	0	1	8021	535	19	2		2	KCNA1	12	5020634	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		5020634	128831261	130	15603										
ATN1	1822	genome.wustl.edu	37	chr12	7047686	7047686	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctccggtggaatgcccatctCtgggcccagtgccccatcgc	11	17	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:7047686C>G	ENST00000356654.4	+	7	2797	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	ATN1_ENST00000396684.2_Missense_Mutation_p.L854V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	854					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATGCCCATCTCTGGGCCCAGT	0.607											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40	41	41					12																	7047686		2203	4300	6503	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2560C>G	12.37:g.7047686C>G	ENSP00000349076:p.Leu854Val	638	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.L854V	ENST00000356654.4	37	c.2560	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478114	0.26511	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.45276	0.9;0.9;0.9	4.96	4.96	0.65561	.	0.331492	0.16875	U	0.195941	T	0.39145	0.1067	N	0.22421	0.69	0.31358	N	0.68175	B	0.28400	0.21	B	0.38921	0.285	T	0.36480	-0.9746	10	0.26408	T	0.33	.	18.8408	0.92183	0.0:1.0:0.0:0.0	.	854	P54259	ATN1_HUMAN	V	854;854;854;439	ENSP00000349076:L854V;ENSP00000379915:L854V;ENSP00000441744:L854V	ENSP00000229279:L439V	L	+	1	2	ATN1	6917947	0.998000	0.40836	0.987000	0.45799	0.134000	0.20937	1.428000	0.34892	2.767000	0.95098	0.650000	0.86243	CTG	ATN1	-	pfam_Atrophin-like,prints_Atrophin-1		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	C	NM_001940		7047686	1	no_errors	ENST00000356654	ensembl	human	known	70_37	missense	SNP	0.998	G	G	7047686	C	G	7047686	3	3	105	1	0	0	0	0	1	0	0	0	1112	912	32	1	2582	1	ATN1	12	7047686	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2027052	7047686	126804209	131	15604										
TENC1	23371	genome.wustl.edu	37	chr12	53451366	53451366	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	accagatatatcagctacttCagtgggctgctatctggctc	9	11	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:53451366C>T	ENST00000314250.6	+	12	1151	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TENC1_ENST00000314276.3_Silent_p.F297F|TENC1_ENST00000379902.3_Silent_p.F163F|TENC1_ENST00000546602.1_Silent_p.F287F|TENC1_ENST00000451358.1_Silent_p.F287F|TENC1_ENST00000549700.1_Silent_p.F287F|TENC1_ENST00000552570.1_Silent_p.F287F	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	287	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCAGCTACTTCAGTGGGCTGC	0.517																																																	0													201	195	197					12																	53451366		2203	4300	6503	SO:0001819	synonymous_variant	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.861C>T	12.37:g.53451366C>T			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F297	ENST00000314250.6	37	c.891	CCDS8843.1	12																																																																																			TENC1	-	pfscan_Phosphatase_tensin-typ		0.517	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53451366	1	no_errors	ENST00000314276	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53451366	C	T	53451366	2	4	105	1	0	0	0	0	0	0	0	1	15788	825	29	1		1	TENC1	12	53451366	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	46403680	53451366	80400529	132	15605										
USP15	9958	genome.wustl.edu	37	chr12	62775325	62775325	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcctcaatgataagtatcaaGaagaactgaattttgacaat	6	6	2	5			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:62775325G>A	ENST00000280377.5	+	9	1028	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	USP15_ENST00000353364.3_Missense_Mutation_p.E295K|USP15_ENST00000393654.3_Missense_Mutation_p.E299K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	324	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAAGTATCAAGAAGAACTGAA	0.333																																					Melanoma(181;615 2041 39364 49691 50001)												0													127	117	120					12																	62775325		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.970G>A	12.37:g.62775325G>A	ENSP00000280377:p.Glu324Lys		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E324K	ENST00000280377.5	37	c.970	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778779	0.49891	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30182	1.54;1.54;1.54	5.09	5.09	0.68999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.222050	0.46442	D	0.000284	T	0.13457	0.0326	N	0.03608	-0.345	0.43313	D	0.995323	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.16512	-1.0400	9	.	.	.	-20.2094	12.0553	0.53531	0.0785:0.0:0.9215:0.0	.	324;295	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	295;324;299	ENSP00000258123:E295K;ENSP00000280377:E324K;ENSP00000377264:E299K	.	E	+	1	0	USP15	61061592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.860000	0.86993	2.648000	0.89879	0.585000	0.79938	GAA	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	G	NM_006313		62775325	1	no_errors	ENST00000280377	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62775325	G	A	62775325	3	1	105	1	0	0	0	0	1	0	0	0	17077	943	33	1	913	1	USP15	12	62775325	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	9323959	62775325	71076570	133	15606										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80266643	80266643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atgtagtggtatccagccttCattatcaggttgattaatat	8	6	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:80266643C>T	ENST00000450142.2	-	2	579	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E105K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E18K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E105K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E105K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	105					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ATCCAGCCTTCATTATCAGGT	0.358																																																	0													120	115	117					12																	80266643		1919	4185	6104	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.313G>A	12.37:g.80266643C>T	ENSP00000389168:p.Glu105Lys		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E105K	ENST00000450142.2	37	c.313	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.486675	0.96323	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000550510	T;T;T;D;T;T;T	0.82433	-0.16;-0.16;-0.16;-1.61;-0.16;-0.04;0.62	5.25	5.25	0.73442	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.998	D;D;D;D	0.91635	0.988;0.999;0.993;0.993	D	0.88699	0.3214	10	0.87932	D	0	.	19.1984	0.93699	0.0:1.0:0.0:0.0	.	105;105;105;105	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	K	105;105;105;105;105;105;105;18;105;105;33	ENSP00000261207:E105K;ENSP00000389168:E105K;ENSP00000416769:E105K;ENSP00000449514:E18K;ENSP00000446855:E105K;ENSP00000446816:E105K;ENSP00000447338:E33K	ENSP00000261207:E105K	E	-	1	0	PPP1R12A	78790774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.857000	0.69525	2.596000	0.87737	0.585000	0.79938	GAA	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.358	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80266643	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80266643	C	T	80266643	3	4	105	1	0	0	0	0	1	0	0	0	12381	835	29	1	2875	1	PPP1R12A	12	80266643	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	17491318	80266643	53585252	134	15607										
PLXNC1	10154	genome.wustl.edu	37	chr12	94691184	94691184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aaagaaatgtatctgacaaaGctgctgtcgaccaaggtaca	9	8	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:94691184G>A	ENST00000258526.4	+	26	4308	c.4059G>A	c.(4057-4059)aaG>aaA	p.K1353K	PLXNC1_ENST00000545312.1_Silent_p.K92K|PLXNC1_ENST00000547057.1_Silent_p.K400K	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1353					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATCTGACAAAGCTGCTGTCGA	0.418																																																	0													81	74	77					12																	94691184		2203	4300	6503	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4059G>A	12.37:g.94691184G>A			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.K1353	ENST00000258526.4	37	c.4059	CCDS9049.1	12																																																																																			PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94691184	1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	1.000	A	A	94691184	G	A	94691184	2	1	105	1	0	0	0	0	0	0	0	1	12150	962	34	4		4	PLXNC1	12	94691184	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	14424541	94691184	39160711	135	15608										
MLEC	9761	genome.wustl.edu	37	chr12	121131974	121131974	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atcaaactgagcggtacaatGaggagacctttggctacgaa	11	8	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:121131974G>A	ENST00000228506.3	+	2	744	c.316G>A	c.(316-318)Gag>Aag	p.E106K	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Missense_Mutation_p.E106K	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	106					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GCGGTACAATGAGGAGACCTT	0.498																																																	0													116	98	104					12																	121131974		2203	4300	6503	SO:0001583	missense	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.316G>A	12.37:g.121131974G>A	ENSP00000228506:p.Glu106Lys			Missense_Mutation	SNP	pfam_Malectin	p.E106K	ENST00000228506.3	37	c.316	CCDS9206.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990463	0.74589	.	.	ENSG00000110917	ENST00000228506;ENST00000412616;ENST00000545525	.	.	.	5.5	5.5	0.81552	Malectin (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.13098	0.295	0.80722	D	1	B	0.22414	0.069	B	0.25614	0.062	T	0.30357	-0.9981	9	0.12766	T	0.61	.	19.7862	0.96440	0.0:0.0:1.0:0.0	.	106	Q14165	MLEC_HUMAN	K	106;106;23	.	ENSP00000228506:E106K	E	+	1	0	MLEC	119616357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.406000	0.97321	2.769000	0.95229	0.655000	0.94253	GAG	MLEC	-	pfam_Malectin		0.498	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	G	NM_014730		121131974	1	no_errors	ENST00000228506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121131974	G	A	121131974	3	1	105	1	0	0	0	0	1	0	0	0	9636	1291	45	1	322	1	MLEC	12	121131974	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	26440790	121131974	12719921	136	15609										
SBNO1	55206	genome.wustl.edu	37	chr12	123818692	123818692	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggatgttttgtaccaaacatCaggaggagtaacactggata	11	6	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:123818692C>T	ENST00000602398.1	-	7	944	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SBNO1_ENST00000267176.4_Missense_Mutation_p.D272N|SBNO1_ENST00000420886.2_Missense_Mutation_p.D273N|SBNO1_ENST00000602750.1_Missense_Mutation_p.D272N			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	273					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCAAACATCAGGAGGAGTA	0.378																																																	0													66	61	62					12																	123818692		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.817G>A	12.37:g.123818692C>T	ENSP00000473665:p.Asp273Asn		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.D273N	ENST00000602398.1	37	c.817	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375697	0.82682	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.35048	1.33;1.33	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.84683	2.71	0.80722	D	1	B;B;P	0.37330	0.057;0.01;0.59	B;B;B	0.37304	0.035;0.021;0.246	T	0.54774	-0.8243	10	0.48119	T	0.1	-34.0568	19.9162	0.97063	0.0:1.0:0.0:0.0	.	273;272;271	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	N	273;272;272	ENSP00000387361:D273N;ENSP00000267176:D272N	ENSP00000267176:D272N	D	-	1	0	SBNO1	122384645	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.950000	0.70265	2.710000	0.92621	0.650000	0.86243	GAT	SBNO1	-	NULL		0.378	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123818692	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123818692	C	T	123818692	3	4	105	1	0	0	0	0	1	0	0	0	13892	826	29	1	3468	1	SBNO1	12	123818692	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2686718	123818692	10033203	137	15610										
TCTN2	79867	genome.wustl.edu	37	chr12	124171412	124171412	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcaaatttaacaacgctgttCagacggtcctgcttcaccgg	8	12	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:124171412C>T	ENST00000303372.5	+	6	722	c.594C>T	c.(592-594)ttC>ttT	p.F198F	TCTN2_ENST00000426174.2_Silent_p.F197F	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	198					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACGCTGTTCAGACGGTCCT	0.527																																																	0													187	147	160					12																	124171412		2203	4300	6503	SO:0001819	synonymous_variant	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.594C>T	12.37:g.124171412C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.F198	ENST00000303372.5	37	c.594	CCDS9253.1	12																																																																																			TCTN2	-	pfam_DUF1619		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	C	NM_024809		124171412	1	no_errors	ENST00000303372	ensembl	human	known	70_37	silent	SNP	0.874	T	T	124171412	C	T	124171412	2	4	105	1	0	0	0	0	0	0	0	1	15753	825	29	1		1	TCTN2	12	124171412	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	352720	124171412	9680483	138	15611										
GALNT9	50614	genome.wustl.edu	37	chr12	132837615	132837615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tccagccctgcagccgcgcgCggatcagtccttcccgccgg	12	19	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr12:132837615C>T	ENST00000328957.8	-	4	679	c.680G>A	c.(679-681)cGc>cAc	p.R227H	GALNT9_ENST00000535208.1_5'UTR	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	227	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGCCGCGCGCGGATCAGTCC	0.622																																					Colon(186;2147 2752 13553 41466)												0													36	41	39					12																	132837615		692	1591	2283	SO:0001583	missense	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.680G>A	12.37:g.132837615C>T	ENSP00000329846:p.Arg227His		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R227H	ENST00000328957.8	37	c.680		12	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077738	0.36662	.	.	ENSG00000182870	ENST00000328957	T	0.61980	0.06	4.11	4.11	0.48088	Glycosyl transferase, family 2 (1);	0.072827	0.56097	D	0.000024	T	0.79834	0.4514	M	0.82923	2.615	0.80722	D	1	D;P;D	0.89917	0.989;0.778;1.0	P;B;D	0.69654	0.846;0.411;0.965	D	0.84447	0.0586	10	0.87932	D	0	.	16.3145	0.82913	0.0:1.0:0.0:0.0	.	227;227;84	B2RXG6;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	H	227	ENSP00000329846:R227H	ENSP00000329846:R227H	R	-	2	0	GALNT9	131347688	1.000000	0.71417	0.932000	0.37286	0.052000	0.14988	5.804000	0.69135	1.837000	0.53436	0.561000	0.74099	CGC	GALNT9	-	pfam_Glyco_trans_2		0.622	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	C	NM_001122636		132837615	-1	no_errors	ENST00000328957	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132837615	C	T	132837615	3	4	105	1	0	0	0	0	1	0	0	0	6239	768	27	2	1163	2	GALNT9	12	132837615	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	8666203	132837615	1014280	139	15612										
GJB6	10804	genome.wustl.edu	37	chr13	20797329	20797329	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cgagtggtttcgtgcctgtaGtaggccacatgcatggccac	13	11	0	0	rs370775704		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr13:20797329G>C	ENST00000356192.6	-	5	911	c.291C>G	c.(289-291)taC>taG	p.Y97*	GJB6_ENST00000400065.3_Nonsense_Mutation_p.Y97*|GJB6_ENST00000241124.6_Nonsense_Mutation_p.Y97*|GJB6_ENST00000400066.3_Nonsense_Mutation_p.Y97*	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	97					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CGTGCCTGTAGTAGGCCACAT	0.542																																																	0													57	50	52					13																	20797329		2203	4300	6503	SO:0001587	stop_gained	10804			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.291C>G	13.37:g.20797329G>C	ENSP00000348521:p.Tyr97*		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.Y97*	ENST00000356192.6	37	c.291	CCDS9291.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.517158	0.97629	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	.	.	.	5.28	5.28	0.74379	.	0.078557	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3037	0.54889	0.0773:0.0:0.9227:0.0	.	.	.	.	X	97	.	ENSP00000241124:Y97X	Y	-	3	2	GJB6	19695329	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.951000	0.56684	2.450000	0.82876	0.655000	0.94253	TAC	GJB6	-	pfam_Connexin_N		0.542	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB6	HGNC	protein_coding	OTTHUMT00000272906.1	G			20797329	-1	no_errors	ENST00000241124	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	20797329	G	C	20797329	4	2	105	1	0	0	0	0	0	1	0	0	6431	1024	36	4	498	4	GJB6	13	20797329	Nonsense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		20797329	94372549	140	15613										
ATP11A	23250	genome.wustl.edu	37	chr13	113510282	113510282	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gacggagctgcactgtctctGataatgaagcctcgagaaga	12	9	1	4			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr13:113510282G>A	ENST00000487903.1	+	20	2389	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	ATP11A_ENST00000375630.2_Silent_p.L767L|ATP11A_ENST00000283558.8_Silent_p.L767L|ATP11A_ENST00000375645.3_Silent_p.L767L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	767					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CACTGTCTCTGATAATGAAGC	0.517																																																	0													114	121	119					13																	113510282		2203	4300	6503	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2301G>A	13.37:g.113510282G>A			Q5VXT2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L767	ENST00000487903.1	37	c.2301	CCDS32011.1	13																																																																																			ATP11A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl		0.517	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	G	NM_015205		113510282	1	no_errors	ENST00000375630	ensembl	human	known	70_37	silent	SNP	0.003	A	A	113510282	G	A	113510282	2	1	105	1	0	0	0	0	0	0	0	1	1120	1277	45	1		1	ATP11A	13	113510282	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	92712953	113510282	1659596	141	15614										
FLJ10357	55701	genome.wustl.edu	37	chr14	21542609	21542609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cctgtggaaggacctgagggCgagtatgtggagctgttaga	17	6	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:21542609C>T	ENST00000298694.4	+	3	847	c.720C>T	c.(718-720)ggC>ggT	p.G240G	ARHGEF40_ENST00000298693.3_Silent_p.G240G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	240						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GACCTGAGGGCGAGTATGTGG	0.657																																																	0													31	40	37					14																	21542609		2200	4299	6499	SO:0001819	synonymous_variant	55701				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.720C>T	14.37:g.21542609C>T			A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G240	ENST00000298694.4	37	c.720	CCDS32041.1	14																																																																																			ARHGEF40	-	NULL		0.657	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	C			21542609	1	no_errors	ENST00000298694	ensembl	human	known	70_37	silent	SNP	0.998	T	T	21542609	C	T	21542609	2	4	105	1	0	0	0	0	0	0	0	1	5944	755	27	2		2	FLJ10357	14	21542609	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		21542609	85806931	142	15615										
C14orf28	122525	genome.wustl.edu	37	chr14	45373686	45373686	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atatgcaacattggaaatctGaagatctggcgtatgtaccc	9	8	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:45373686G>A	ENST00000325192.3	+	4	978	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.E205K	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	235								p.E235K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTGGAAATCTGAAGATCTGGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											157	153	155					14																	45373686		2203	4300	6503	SO:0001583	missense	122525			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.703G>A	14.37:g.45373686G>A	ENSP00000326846:p.Glu235Lys			Missense_Mutation	SNP	NULL	p.E235K	ENST00000325192.3	37	c.703	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661817	0.67700	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.28069	1.63;1.63	5.97	5.97	0.96955	.	0.051921	0.85682	D	0.000000	T	0.20251	0.0487	N	0.08118	0	0.54753	D	0.999981	B	0.14805	0.011	B	0.13407	0.009	T	0.04693	-1.0933	10	0.45353	T	0.12	.	17.9074	0.88923	0.0:0.0:1.0:0.0	.	235	Q4W4Y0	CN028_HUMAN	K	235;205	ENSP00000326846:E235K;ENSP00000451791:E205K	ENSP00000326846:E235K	E	+	1	0	C14orf28	44443436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.922000	0.70036	2.835000	0.97688	0.591000	0.81541	GAA	C14orf28	-	NULL		0.348	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	G	NM_001017923		45373686	1	no_errors	ENST00000325192	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45373686	G	A	45373686	3	1	105	1	0	0	0	0	1	0	0	0	1774	1291	45	1	713	1	C14orf28	14	45373686	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	23831077	45373686	61975854	143	15616										
ARF6	382	genome.wustl.edu	37	chr14	50360887	50360887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aactgggcctgacccggattCgggacaggaactggtatgtg	15	9	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:50360887C>T	ENST00000298316.5	+	2	980	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	145					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					GACCCGGATTCGGGACAGGAA	0.552																																																	0													40	36	38					14																	50360887		2203	4300	6503	SO:0001583	missense	382				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"ADP-ribosylation factors"	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.433C>T	14.37:g.50360887C>T	ENSP00000298316:p.Arg145Trp		P26438|Q6FGZ2	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R145W	ENST00000298316.5	37	c.433	CCDS9695.1	14	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320491	0.60634	.	.	ENSG00000165527	ENST00000298316	D	0.83250	-1.7	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	M	0.85462	2.755	0.54753	D	0.999988	D	0.58970	0.984	P	0.51266	0.664	D	0.86539	0.1827	10	0.87932	D	0	-9.5638	7.179	0.25761	0.2834:0.63:0.0:0.0867	.	145	P62330	ARF6_HUMAN	W	145	ENSP00000298316:R145W	ENSP00000298316:R145W	R	+	1	2	ARF6	49430637	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.997000	0.49457	1.113000	0.41760	0.491000	0.48974	CGG	ARF6	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type		0.552	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF6	HGNC	protein_coding	OTTHUMT00000276883.1	C	NM_001663		50360887	1	no_errors	ENST00000298316	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50360887	C	T	50360887	3	4	105	1	0	0	0	0	1	0	0	0	848	875	31	1	435	1	ARF6	14	50360887	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	4987201	50360887	56988653	144	15617										
LTBP2	4053	genome.wustl.edu	37	chr14	74994061	74994061	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cgcactcacctggccagcctGagagtcacctggaagggaaa	12	13	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:74994061G>C	ENST00000261978.4	-	13	2763	c.2377C>G	c.(2377-2379)Cag>Gag	p.Q793E	LTBP2_ENST00000556690.1_Missense_Mutation_p.Q793E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	793					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGCCAGCCTGAGAGTCACCT	0.652																																																	0													61	56	57					14																	74994061		2201	4300	6501	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2377C>G	14.37:g.74994061G>C	ENSP00000261978:p.Gln793Glu		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.Q793E	ENST00000261978.4	37	c.2377	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067080	0.07273	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556359	T;T	0.76968	-1.06;-1.06	4.22	3.24	0.37175	.	1.419420	0.04875	N	0.446708	T	0.59945	0.2231	N	0.14661	0.345	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	10	0.02654	T	1	.	9.3999	0.38426	0.0:0.2179:0.7821:0.0	.	793	Q14767	LTBP2_HUMAN	E	793;793;53	ENSP00000261978:Q793E;ENSP00000451477:Q793E	ENSP00000261978:Q793E	Q	-	1	0	LTBP2	74063814	0.983000	0.35010	0.843000	0.33291	0.921000	0.55340	2.930000	0.48924	2.340000	0.79590	0.511000	0.50034	CAG	LTBP2	-	NULL		0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	G	NM_000428		74994061	-1	no_errors	ENST00000261978	ensembl	human	known	70_37	missense	SNP	0.543	C	C	74994061	G	C	74994061	3	2	105	1	0	0	0	0	1	0	0	0	9097	1299	45	1	3184	1	LTBP2	14	74994061	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	24633174	74994061	32355479	145	15618										
GPR68	8111	genome.wustl.edu	37	chr14	91701266	91701266	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	atctgcaggtagccgaagtaGagggacaggcagttggccgg	17	8	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:91701266G>C	ENST00000531499.2	-	2	468	c.129C>G	c.(127-129)ctC>ctG	p.L43L	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Silent_p.L43L|GPR68_ENST00000238699.3_Silent_p.L53L			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	43					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGCCGAAGTAGAGGGACAGGC	0.612																																																	0													72	67	68					14																	91701266		2203	4300	6503	SO:0001819	synonymous_variant	8111			U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.129C>G	14.37:g.91701266G>C			Q13334|Q4VBB4|Q6IX34	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.L53	ENST00000531499.2	37	c.159	CCDS9894.2	14																																																																																			GPR68	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	G			91701266	-1	no_errors	ENST00000238699	ensembl	human	known	70_37	silent	SNP	0.992	C	C	91701266	G	C	91701266	2	2	105	1	0	0	0	0	0	0	0	1	6726	929	33	1		1	GPR68	14	91701266	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	16707205	91701266	15648274	146	15619										
BDKRB1	623	genome.wustl.edu	37	chr14	96730151	96730151	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agagtgctgccaacatttatCatctccatctgtttcttcgg	7	11	4	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:96730151C>T	ENST00000216629.6	+	3	738	c.132C>T	c.(130-132)atC>atT	p.I44I	RP11-404P21.8_ENST00000553811.1_3'UTR|BDKRB1_ENST00000553356.1_Silent_p.I44I|RP11-404P21.3_ENST00000553638.1_RNA|RP11-404P21.8_ENST00000555847.1_3'UTR	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	44					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.I44M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAACATTTATCATCTCCATCT	0.542																																																	1	Substitution - Missense(1)	urinary_tract(1)											91	72	79					14																	96730151		2203	4300	6503	SO:0001819	synonymous_variant	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.132C>T	14.37:g.96730151C>T			A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt	p.I44	ENST00000216629.6	37	c.132	CCDS9943.1	14																																																																																			BDKRB1	-	prints_GPCR_Rhodpsn		0.542	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB1	HGNC	protein_coding	OTTHUMT00000413300.1	C			96730151	1	no_errors	ENST00000216629	ensembl	human	known	70_37	silent	SNP	0.172	T	T	96730151	C	T	96730151	2	4	105	1	0	0	0	0	0	0	0	1	1393	816	29	1		1	BDKRB1	14	96730151	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5028885	96730151	10619389	147	15620										
HSP90AA1	3320	genome.wustl.edu	37	chr14	102552664	102552664	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgcctgaaaggcgaacgtctCaacctcctcctcctccatcg	7	17	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr14:102552664C>T	ENST00000216281.8	-	2	257	c.52G>A	c.(52-54)Gag>Aag	p.E18K	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E140K	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	18					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GCGAACGTCTCAACCTCCTCC	0.488																																																	0													100	100	100					14																	102552664		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.52G>A	14.37:g.102552664C>T	ENSP00000216281:p.Glu18Lys		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.E140K	ENST00000216281.8	37	c.418	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304198	0.60305	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.78595	-1.19;-1.19;-1.19	3.79	3.79	0.43588	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.065281	0.64402	U	0.000013	D	0.88213	0.6376	M	0.82823	2.61	0.80722	D	1	D;D	0.69078	0.997;0.983	D;D	0.74023	0.982;0.941	D	0.90735	0.4645	10	0.87932	D	0	.	16.0097	0.80391	0.0:1.0:0.0:0.0	.	140;18	P07900-2;P07900	.;HS90A_HUMAN	K	18;140;18	ENSP00000216281:E18K;ENSP00000335153:E140K;ENSP00000450712:E18K	ENSP00000216281:E18K	E	-	1	0	HSP90AA1	101622417	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	7.531000	0.81973	1.840000	0.53500	0.573000	0.79308	GAG	HSP90AA1	-	pirsf_Hsp90,superfamily_ATPase-like_ATP-bd,prints_Hsp90_N		0.488	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	C	NM_005348		102552664	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102552664	C	T	102552664	3	4	105	1	0	0	0	0	1	0	0	0	7421	835	29	1	2186	1	HSP90AA1	14	102552664	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	5822513	102552664	4796876	148	15621										
GOLGA8B	440270	genome.wustl.edu	37	chr15	34820227	34820227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggaatttgccgtgcccctcgCtgtagctgccacaagccgca	11	15	0	0	rs564951643	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:34820227C>T	ENST00000342314.5	-	15	1602	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	GOLGA8B_ENST00000438958.2_Missense_Mutation_p.S532N|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.S502N|GOLGA8A_ENST00000543376.1_Intron|MIR1233-2_ENST00000408138.1_RNA	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	502	Golgi-targeting domain.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTGCCCCTCGCTGTAGCTGCC	0.677													c|||	2282	0.455671	0.2852	0.6268	5008	,	,		6865	0.4752		0.4771	False		,,,				2504	0.5225																0													1	1	1					15																	34820227		186	856	1042	SO:0001583	missense	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"golgi autoantigen, golgin subfamily a, 8B"				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1505G>A	15.37:g.34820227C>T	ENSP00000343064:p.Ser502Asn		A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.S532N	ENST00000342314.5	37	c.1595	CCDS45211.1	15	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.665869	0.00765	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958;ENST00000268079	T;T;T	0.16743	2.32;2.32;2.32	1.46	0.12	0.14691	.	.	.	.	.	T	0.02610	0.0079	N	0.00197	-1.87	0.19300	N	0.999972	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42932	-0.9422	9	0.02654	T	1	.	4.8792	0.13670	0.0:0.191:0.0:0.809	.	359;502	B7ZMK6;A8MQT2	.;GOG8B_HUMAN	N	502;502;532;393	ENSP00000343064:S502N;ENSP00000267731:S502N;ENSP00000400063:S532N	ENSP00000267731:S502N	S	-	2	0	GOLGA8B	32607519	0.217000	0.23597	0.002000	0.10522	0.001000	0.01503	1.468000	0.35332	0.055000	0.16094	-1.252000	0.01501	AGC	GOLGA8B	-	NULL		0.677	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding	OTTHUMT00000251739.2	C	NM_001023567		34820227	-1	no_errors	ENST00000438958	ensembl	human	known	70_37	missense	SNP	0.997	T	T	34820227	C	T	34820227	3	4	105	1	0	0	0	0	1	0	0	0	6583	797	28	4	314	4	GOLGA8B	15	34820227	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		34820227	67711165	149	15622										
MFAP1	4236	genome.wustl.edu	37	chr15	44102108	44102108	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aatttctgctttctccttctCaagcctgtccagggagcaaa	7	12	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:44102108C>T	ENST00000267812.3	-	7	1124	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	298					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTCTCCTTCTCAAGCCTGTCC	0.418																																																	0													187	170	176					15																	44102108		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.892G>A	15.37:g.44102108C>T	ENSP00000267812:p.Glu298Lys		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E298K	ENST00000267812.3	37	c.892	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.609712	0.96637	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.90542	3.125	0.80722	D	1	P	0.47604	0.898	P	0.53313	0.723	D	0.83690	0.0176	9	0.49607	T	0.09	-13.1428	18.1308	0.89600	0.0:1.0:0.0:0.0	.	298	P55081	MFAP1_HUMAN	K	298	.	ENSP00000267812:E298K	E	-	1	0	MFAP1	41889400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.865000	0.98341	0.655000	0.94253	GAG	MFAP1	-	pfam_MFAP1_C		0.418	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44102108	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44102108	C	T	44102108	3	4	105	1	0	0	0	0	1	0	0	0	9536	835	29	1	439	1	MFAP1	15	44102108	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	9281881	44102108	58429284	150	15623										
MAP2K1	5604	genome.wustl.edu	37	chr15	66782079	66782079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aataaaaaaccccgcagagaGagcagatttgaagcaactca	8	9	1	4			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:66782079G>A	ENST00000307102.5	+	10	1577	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	MAP2K1_ENST00000566326.1_Missense_Mutation_p.R173K|CTD-3185P2.2_ENST00000602360.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCCGCAGAGAGAGCAGATTTG	0.408																																																	0													169	167	168					15																	66782079		2201	4299	6500	SO:0001583	missense	5604			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.1046G>A	15.37:g.66782079G>A	ENSP00000302486:p.Arg349Lys			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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R349K	ENST00000307102.5	37	c.1046	CCDS10216.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.118263	0.97300	.	.	ENSG00000169032	ENST00000307102	D	0.99014	-5.33	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98141	1.0436	10	0.87932	D	0	-20.5964	20.2159	0.98296	0.0:0.0:1.0:0.0	.	327;349	B4DFY5;Q02750	.;MP2K1_HUMAN	K	349	ENSP00000302486:R349K	ENSP00000302486:R349K	R	+	2	0	MAP2K1	64569133	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.394000	0.97261	2.882000	0.98803	0.655000	0.94253	AGA	MAP2K1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.408	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	G			66782079	1	no_errors	ENST00000307102	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66782079	G	A	66782079	3	1	105	1	0	0	0	0	1	0	0	0	9259	942	33	1	1084	1	MAP2K1	15	66782079	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	22679971	66782079	35749313	151	15624										
SIN3A	25942	genome.wustl.edu	37	chr15	75705130	75705130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gactttggcaggtgggggctGaggagctggctgggcaggag	22	6	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:75705130G>C	ENST00000394947.3	-	5	1044	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	SIN3A_ENST00000360439.4_Missense_Mutation_p.Q244E|SIN3A_ENST00000394949.4_Missense_Mutation_p.Q244E	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGTGggggctgaggagctggc	0.552																																																	0													81	75	77					15																	75705130		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.730C>G	15.37:g.75705130G>C	ENSP00000378402:p.Gln244Glu			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.Q244E	ENST00000394947.3	37	c.730	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228716	0.39399	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48522	0.81;0.81;0.81	6.04	5.12	0.69794	.	0.098566	0.64402	D	0.000001	T	0.39036	0.1063	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28490	-1.0042	10	0.06099	T	0.92	-11.3013	14.2887	0.66263	0.0708:0.0:0.9292:0.0	.	244	Q96ST3	SIN3A_HUMAN	E	244	ENSP00000378402:Q244E;ENSP00000378403:Q244E;ENSP00000353622:Q244E	ENSP00000353622:Q244E	Q	-	1	0	SIN3A	73492183	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.867000	0.99620	1.557000	0.49525	0.561000	0.74099	CAG	SIN3A	-	NULL		0.552	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	G	NM_015477		75705130	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75705130	G	C	75705130	3	2	105	1	0	0	0	0	1	0	0	0	14355	1299	45	1	3159	1	SIN3A	15	75705130	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	8923051	75705130	26826262	152	15625										
SGK269	79834	genome.wustl.edu	37	chr15	77407290	77407290	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcatacaaatcagggcttttCccatgctgggccagagagtc	10	11	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:77407290C>T	ENST00000560626.2	-	7	4924	c.4449G>A	c.(4447-4449)ggG>ggA	p.G1483G	PEAK1_ENST00000312493.4_Silent_p.G1483G			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGGGCTTTTCCCATGCTGGG	0.522																																																	0													82	83	83					15																	77407290		2084	4214	6298	SO:0001819	synonymous_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4449G>A	15.37:g.77407290C>T			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.G1483	ENST00000560626.2	37	c.4449	CCDS42062.1	15																																																																																			PEAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77407290	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	silent	SNP	0.028	T	T	77407290	C	T	77407290	2	4	105	1	0	0	0	0	0	0	0	1	14241	842	30	1		1	SGK269	15	77407290	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1702160	77407290	25124102	153	15626										
KIAA1199	57214	genome.wustl.edu	37	chr15	81217005	81217005	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agtcaaaaccaccgaggcctCtgccaaggacaagcggccgt	11	14	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:81217005C>T	ENST00000394685.3	+	18	2665	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	KIAA1199_ENST00000356249.5_Missense_Mutation_p.S749F|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S749F			Q8WUJ3	CEMIP_HUMAN		749					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCGAGGCCTCTGCCAAGGAC	0.542																																																	0													128	105	113					15																	81217005		2203	4300	6503	SO:0001583	missense	57214																														ENST00000394685.3:c.2246C>T	15.37:g.81217005C>T	ENSP00000378177:p.Ser749Phe		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.S749F	ENST00000394685.3	37	c.2246	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395322	0.62066	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.54479	0.57;0.57;0.57	5.12	5.12	0.69794	Pectin lyase fold/virulence factor (1);	0.142433	0.42548	D	0.000681	T	0.67335	0.2882	M	0.70595	2.14	0.37067	D	0.898351	D	0.64830	0.994	P	0.60173	0.87	T	0.74429	-0.3668	10	0.59425	D	0.04	-18.7643	13.8309	0.63380	0.1531:0.8469:0.0:0.0	.	749	Q8WUJ3	K1199_HUMAN	F	749	ENSP00000220244:S749F;ENSP00000378177:S749F;ENSP00000348583:S749F	ENSP00000220244:S749F	S	+	2	0	KIAA1199	79004060	0.995000	0.38212	0.998000	0.56505	0.632000	0.37999	3.158000	0.50723	2.529000	0.85273	0.591000	0.81541	TCT	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence		0.542	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	C			81217005	1	no_errors	ENST00000220244	ensembl	human	known	70_37	missense	SNP	0.990	T	T	81217005	C	T	81217005	3	4	105	1	0	0	0	0	1	0	0	0	8233	913	32	1	2308	1	KIAA1199	15	81217005	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3809715	81217005	21314387	154	15627										
TTLL13	440307	genome.wustl.edu	37	chr15	90799080	90799080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acaaactctatccctctgagTacaacatcttcccccgcacc	3	18	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:90799080T>C	ENST00000339615.5	+	5	801	c.511T>C	c.(511-513)Tac>Cac	p.Y171H	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000438251.1_Missense_Mutation_p.Y171H	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TCCCTCTGAGTACAACATCTT	0.547																																																	0													253	247	249					15																	90799080		2199	4298	6497	SO:0001583	missense	440307			BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.511T>C	15.37:g.90799080T>C	ENSP00000345294:p.Tyr171His			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Y171H	ENST00000339615.5	37	c.511	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987911	0.74589	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05513	3.43;3.43	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000004	T	0.37404	0.1002	H	0.96142	3.775	0.46499	D	0.999076	D	0.76494	0.999	D	0.78314	0.991	T	0.55366	-0.8152	10	0.87932	D	0	.	14.5795	0.68278	0.0:0.0:0.0:1.0	.	171	A6NNM8-2	.	H	171	ENSP00000413362:Y171H;ENSP00000345294:Y171H	ENSP00000345294:Y171H	Y	+	1	0	TTLL13	88600084	1.000000	0.71417	0.996000	0.52242	0.534000	0.34807	7.371000	0.79600	2.230000	0.72887	0.533000	0.62120	TAC	TTLL13	-	pfam_Tub_tyr_ligase		0.547	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	T	NM_001029964		90799080	1	no_errors	ENST00000438251	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90799080	T	C	90799080	3	2	105	1	0	0	0	0	1	0	0	0	16757	1638	57	5	525	5	TTLL13	15	90799080	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	9582075	90799080	11732312	155	15628										
TM2D3	80213	genome.wustl.edu	37	chr15	102190346	102190346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcggacacttcatcacataaGgtgggatttcagtactttct	8	9	4	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr15:102190346G>T	ENST00000333202.3	-	3	193	c.188C>A	c.(187-189)cCt>cAt	p.P63H	TM2D3_ENST00000428002.2_Missense_Mutation_p.P37H|TM2D3_ENST00000561373.1_5'UTR|TM2D3_ENST00000347970.3_Missense_Mutation_p.P37H|RNU6-807P_ENST00000516805.1_RNA|TM2D3_ENST00000559107.1_Missense_Mutation_p.P63H	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	63						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCACATAAGGTGGGATTTC	0.423																																																	0													138	128	131					15																	102190346		2203	4300	6503	SO:0001583	missense	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.188C>A	15.37:g.102190346G>T	ENSP00000330433:p.Pro63His		B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	pfam_TM2	p.P63H	ENST00000333202.3	37	c.188	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673680	0.67928	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	T;T;T	0.73897	-0.79;-0.79;-0.79	5.53	4.61	0.57282	.	0.479577	0.23235	N	0.050417	T	0.79209	0.4407	L	0.54323	1.7	0.80722	D	1	D;D;P;D	0.76494	0.999;0.997;0.895;0.993	D;P;P;P	0.63192	0.912;0.891;0.537;0.711	T	0.79060	-0.1958	10	0.62326	D	0.03	-19.0723	7.4029	0.26975	0.085:0.0:0.75:0.165	.	63;37;37;63	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	H	37;37;63	ENSP00000402179:P37H;ENSP00000327584:P37H;ENSP00000330433:P63H	ENSP00000330433:P63H	P	-	2	0	TM2D3	100007869	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	4.657000	0.61490	1.323000	0.45263	0.655000	0.94253	CCT	TM2D3	-	NULL		0.423	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1	G	NM_078474		102190346	-1	no_errors	ENST00000333202	ensembl	human	known	70_37	missense	SNP	0.988	T	T	102190346	G	T	102190346	3	4	105	1	0	0	0	0	1	0	0	0	15995	1000	35	4	571	4	TM2D3	15	102190346	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	11391266	102190346	341046	156	15629										
STUB1	339123	genome.wustl.edu	37	chr16	731466	731466	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctggccaaggagcagcggctGaacttcggggacgacatccc	14	13	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:731466G>A	ENST00000293882.4	-	0	2123				STUB1_ENST00000219548.4_Silent_p.L129L|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000565677.1_Silent_p.L57L|STUB1_ENST00000564370.1_Silent_p.L57L			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						AGCAGCGGCTGAACTTCGGGG	0.652																																																	0													35	36	35					16																	731466		2196	4298	6494	SO:0001628	intergenic_variant	10273				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16			16.37:g.731466G>A			B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Silent	SNP	pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L129	ENST00000293882.4	37	c.387		16																																																																																			STUB1	-	NULL		0.652	JMJD8-201	KNOWN	basic	protein_coding	STUB1	HGNC	protein_coding		G	NM_001005920		731466	1	no_errors	ENST00000219548	ensembl	human	known	70_37	silent	SNP	1.000	A	A	731466	G	A	731466	1	1	105	0	1	0	0	0	0	0	0	0	15365	1277	45	1		1	STUB1	16	731466	IGR	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		731466	89623287	157	15630										
CORO7	79585	genome.wustl.edu	37	chr16	4415047	4415047	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gggaccacctcgtaacagtaCagctgcctctcgccctgaaa	9	15	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:4415047C>G	ENST00000251166.4	-	11	1000	c.855G>C	c.(853-855)ctG>ctC	p.L285L	CORO7_ENST00000539968.1_Silent_p.L65L|CORO7_ENST00000537233.2_Silent_p.L267L|CORO7_ENST00000574025.1_Silent_p.L200L|CORO7-PAM16_ENST00000572467.1_Silent_p.L285L|CORO7_ENST00000423908.2_Silent_p.L117L	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	285					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CGTAACAGTACAGCTGCCTCT	0.662																																																	0													35	33	33					16																	4415047		2192	4295	6487	SO:0001819	synonymous_variant	100529144			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.855G>C	16.37:g.4415047C>G			B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L285	ENST00000251166.4	37	c.855	CCDS10513.1	16																																																																																			CORO7-PAM16	-	pfam_DUF1900		0.662	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	C	NM_024535		4415047	-1	no_errors	ENST00000572467	ensembl	human	known	70_37	silent	SNP	0.963	G	G	4415047	C	G	4415047	2	3	105	1	0	0	0	0	0	0	0	1	3764	465	17	4		4	CORO7	16	4415047	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3683581	4415047	85939706	158	15631										
MYH11	4629	genome.wustl.edu	37	chr16	15832438	15832438	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttaccttccagttctgaaatCatagattcatgcttgttttt	5	8	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:15832438C>G	ENST00000300036.5	-	24	3214	c.3105G>C	c.(3103-3105)atG>atC	p.M1035I	MYH11_ENST00000452625.2_Missense_Mutation_p.M1042I|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Missense_Mutation_p.M1042I|MYH11_ENST00000576790.2_Missense_Mutation_p.M1035I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1035					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTTCTGAAATCATAGATTCAT	0.368			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													175	161	166					16																	15832438		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3105G>C	16.37:g.15832438C>G	ENSP00000300036:p.Met1035Ile		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1042I	ENST00000300036.5	37	c.3126	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057384	0.36277	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.3	4.3	0.51218	.	0.089199	0.85682	D	0.000000	D	0.85173	0.5636	L	0.41415	1.275	0.58432	D	0.999999	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.002;0.002	T	0.83113	-0.0122	10	0.66056	D	0.02	.	16.1203	0.81346	0.0:1.0:0.0:0.0	.	1042;1035;1042;1035;1042	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	1035;1035;1042;1042;1042	ENSP00000300036:M1035I;ENSP00000345136:M1035I;ENSP00000379616:M1042I;ENSP00000407821:M1042I	ENSP00000300036:M1035I	M	-	3	0	MYH11	15739939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.959000	0.70339	2.117000	0.64856	0.555000	0.69702	ATG	MYH11	-	superfamily_Prefoldin		0.368	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	C	NM_001040113		15832438	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15832438	C	G	15832438	3	3	105	1	0	0	0	0	1	0	0	0	10054	826	29	1	2920	1	MYH11	16	15832438	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	11417391	15832438	74522315	159	15632										
GPRC5B	51704	genome.wustl.edu	37	chr16	19883546	19883546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggtgaccacaagcagtaccaTgtcgtagatgagggccatca	12	10	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:19883546T>G	ENST00000300571.2	-	2	813	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	GPRC5B_ENST00000569847.1_Missense_Mutation_p.M208L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.M208L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.M234L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.M208L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	208					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCAGTACCATGTCGTAGATG	0.597																																																	0													134	111	119					16																	19883546		2197	4300	6497	SO:0001583	missense	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.622A>C	16.37:g.19883546T>G	ENSP00000300571:p.Met208Leu		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.M234L	ENST00000300571.2	37	c.700	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065002	0.55432	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.86627	-2.15;-2.15;-2.15	5.17	4.06	0.47325	GPCR, family 3, C-terminal (2);	0.169570	0.53938	N	0.000054	D	0.86896	0.6043	L	0.28274	0.84	0.39096	D	0.961188	P;P	0.45348	0.856;0.856	P;P	0.60949	0.881;0.881	D	0.85057	0.0932	9	.	.	.	.	11.5361	0.50639	0.0:0.0:0.1501:0.8499	.	234;208	B7Z831;Q9NZH0	.;GPC5B_HUMAN	L	208;208;234	ENSP00000300571:M208L;ENSP00000442858:M208L;ENSP00000441775:M234L	.	M	-	1	0	GPRC5B	19791047	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.883000	0.56168	0.962000	0.38057	0.528000	0.53228	ATG	GPRC5B	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.597	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	T			19883546	-1	no_errors	ENST00000537135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19883546	T	G	19883546	3	3	105	1	0	0	0	0	1	0	0	0	6745	1464	51	5	601	5	GPRC5B	16	19883546	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	4051108	19883546	70471207	160	15633										
DCUN1D3	123879	genome.wustl.edu	37	chr16	20873536	20873536	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcaaaagcgctccatgccttCctccaaaattgcatcttccc	5	16	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:20873536C>A	ENST00000324344.4	-	2	610	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Nonsense_Mutation_p.E109*	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	109	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TCCATGCCTTCCTCCAAAATT	0.507																																																	0													161	133	143					16																	20873536		2201	4300	6501	SO:0001587	stop_gained	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.325G>T	16.37:g.20873536C>A	ENSP00000319482:p.Glu109*		B3KVY4	Nonsense_Mutation	SNP	pfam_PONY_dom	p.E109*	ENST00000324344.4	37	c.325	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.215401	0.97385	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.03	6.03	0.97812	.	0.043583	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.4729	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000319482:E109X	E	-	1	0	DCUN1D3	20781037	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAA	DCUN1D3	-	NULL		0.507	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	C	NM_173475		20873536	-1	no_errors	ENST00000324344	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	20873536	C	A	20873536	4	1	105	1	0	0	0	0	0	1	0	0	4320	864	30	3	597	3	DCUN1D3	16	20873536	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	989990	20873536	69481217	161	15634										
GTF3C1	2975	genome.wustl.edu	37	chr16	27472703	27472703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccacttgttccagttgacctCgtgggggaacacacggccca	11	14	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:27472703C>T	ENST00000356183.4	-	37	6313	c.6298G>A	c.(6298-6300)Gag>Aag	p.E2100K	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2075K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2100					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGTTGACCTCGTGGGGGAAC	0.652																																																	0													60	61	61					16																	27472703		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6298G>A	16.37:g.27472703C>T	ENSP00000348510:p.Glu2100Lys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E2100K	ENST00000356183.4	37	c.6298	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978744	0.74360	.	.	ENSG00000077235	ENST00000356183	T	0.30448	1.53	5.23	4.28	0.50868	.	0.125811	0.52532	D	0.000067	T	0.29061	0.0722	M	0.72118	2.19	0.35897	D	0.830103	B;B	0.34264	0.446;0.178	B;B	0.20384	0.027;0.029	T	0.43376	-0.9395	10	0.66056	D	0.02	-21.7821	10.6613	0.45704	0.0:0.911:0.0:0.089	.	2100;2075	Q12789;Q12789-3	TF3C1_HUMAN;.	K	2100	ENSP00000348510:E2100K	ENSP00000348510:E2100K	E	-	1	0	GTF3C1	27380204	0.999000	0.42202	0.689000	0.30133	0.994000	0.84299	4.199000	0.58426	1.218000	0.43458	0.561000	0.74099	GAG	GTF3C1	-	NULL		0.652	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27472703	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.956	T	T	27472703	C	T	27472703	3	4	105	1	0	0	0	0	1	0	0	0	6892	893	31	1	35	1	GTF3C1	16	27472703	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	6599167	27472703	62882050	162	15635										
GTF3C1	2975	genome.wustl.edu	37	chr16	27517406	27517406	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aaggagggcggctgctttttCaatgggtgtaggtttacaac	14	6	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:27517406C>G	ENST00000356183.4	-	10	1599	c.1584G>C	c.(1582-1584)ttG>ttC	p.L528F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L528F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	528					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCTTTTTCAATGGGTGTA	0.547																																																	0													71	67	69					16																	27517406		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1584G>C	16.37:g.27517406C>G	ENSP00000348510:p.Leu528Phe		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.L528F	ENST00000356183.4	37	c.1584	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766636	0.31228	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26223	1.75	5.5	1.04	0.20106	.	0.938994	0.08884	N	0.879553	T	0.32556	0.0833	L	0.56769	1.78	0.22719	N	0.998811	P;P	0.47604	0.528;0.898	B;P	0.50617	0.178;0.646	T	0.18903	-1.0322	10	0.37606	T	0.19	-5.0084	6.4213	0.21746	0.0:0.5186:0.3106:0.1708	.	528;528	Q12789;Q12789-3	TF3C1_HUMAN;.	F	528;526	ENSP00000348510:L528F	ENSP00000348510:L528F	L	-	3	2	GTF3C1	27424907	0.747000	0.28283	0.689000	0.30133	0.012000	0.07955	0.421000	0.21280	0.303000	0.22785	0.655000	0.94253	TTG	GTF3C1	-	NULL		0.547	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27517406	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.372	G	G	27517406	C	G	27517406	3	3	105	1	0	0	0	0	1	0	0	0	6892	825	29	1	4857	1	GTF3C1	16	27517406	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	44703	27517406	62837347	163	15636										
CHD9	80205	genome.wustl.edu	37	chr16	53331007	53331007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agaaaactgatgatagtttgGaaaaatatttgtacgcattc	8	4	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:53331007G>C	ENST00000398510.3	+	29	5737	c.5650G>C	c.(5650-5652)Gaa>Caa	p.E1884Q	CHD9_ENST00000447540.1_Missense_Mutation_p.E1884Q|CHD9_ENST00000564845.1_Missense_Mutation_p.E1884Q|CHD9_ENST00000566029.1_Missense_Mutation_p.E1884Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1884					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGATAGTTTGGAAAAATATTT	0.378																																																	0													167	165	166					16																	53331007		1831	4098	5929	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5650G>C	16.37:g.53331007G>C	ENSP00000381522:p.Glu1884Gln		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1884Q	ENST00000398510.3	37	c.5650		16	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196477	0.58126	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.87650	-2.28;-2.28	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000016	D	0.89220	0.6653	L	0.55103	1.725	0.36982	D	0.894369	B;B;B;B	0.32324	0.075;0.364;0.075;0.123	B;B;B;B	0.44044	0.026;0.439;0.026;0.057	D	0.90519	0.4487	10	0.51188	T	0.08	-12.8165	18.6896	0.91578	0.0:0.0:1.0:0.0	.	252;1884;1884;1884	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Q	1884;1884;252	ENSP00000396345:E1884Q;ENSP00000381522:E1884Q	ENSP00000381522:E1884Q	E	+	1	0	CHD9	51888508	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.038000	0.70964	2.421000	0.82119	0.484000	0.47621	GAA	CHD9	-	NULL		0.378	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	G	NM_025134		53331007	1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53331007	G	C	53331007	3	2	105	1	0	0	0	0	1	0	0	0	3337	1175	41	1	5764	1	CHD9	16	53331007	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	25813601	53331007	37023746	164	15637										
ACD	65057	genome.wustl.edu	37	chr16	67692860	67692860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcatcgtgaggcagcccagtGggtgacagggggtgctgtgc	19	9	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:67692860G>A	ENST00000393919.4	-	7	1138	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.H289Y|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	292	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCAGCCCAGTGGGTGACAGGG	0.612																																																	0													74	73	73					16																	67692860		2198	4300	6498	SO:0001583	missense	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.874C>T	16.37:g.67692860G>A	ENSP00000377496:p.His292Tyr		Q562H5|Q9H8F9	Missense_Mutation	SNP	pfam_Telomere_Pot1	p.H289Y	ENST00000393919.4	37	c.865	CCDS42181.1	16	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573438	0.45902	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.32023	1.47;1.47	4.96	2.91	0.33838	.	0.933679	0.09024	N	0.859708	T	0.20981	0.0505	N	0.19112	0.55	0.09310	N	1	P;P	0.39352	0.539;0.669	B;B	0.34652	0.091;0.187	T	0.12192	-1.0557	10	0.48119	T	0.1	-0.4756	11.667	0.51379	0.0:0.341:0.659:0.0	.	292;289	Q96AP0;Q96AP0-2	ACD_HUMAN;.	Y	289;292	ENSP00000219251:H289Y;ENSP00000377496:H292Y	ENSP00000219251:H289Y	H	-	1	0	ACD	66250361	0.986000	0.35501	0.104000	0.21259	0.318000	0.28184	2.309000	0.43699	0.440000	0.26502	0.462000	0.41574	CAC	ACD	-	NULL		0.612	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACD	HGNC	protein_coding	OTTHUMT00000268880.1	G	NM_022914		67692860	-1	no_errors	ENST00000219251	ensembl	human	known	70_37	missense	SNP	0.034	A	A	67692860	G	A	67692860	3	1	105	1	0	0	0	0	1	0	0	0	135	1348	47	4	784	4	ACD	16	67692860	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	14361853	67692860	22661893	165	15638										
COG4	25839	genome.wustl.edu	37	chr16	70530299	70530299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgtcctggaaggtggtggcaGgaaagcccatccgcagctta	14	10	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:70530299G>A	ENST00000323786.5	-	12	1538	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	502					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GGTGGTGGCAGGAAAGCCCAT	0.552																																																	0													111	88	96					16																	70530299		2198	4300	6498	SO:0001583	missense	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1517C>T	16.37:g.70530299G>A	ENSP00000315775:p.Pro506Leu		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.P506L	ENST00000323786.5	37	c.1517	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367303	0.82463	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.54071	0.59	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.75777	2.31	0.80722	D	1	D;D;D	0.55800	0.973;0.973;0.973	P;P;P	0.55871	0.729;0.786;0.786	T	0.71958	-0.4435	10	0.87932	D	0	-10.6873	20.5792	0.99380	0.0:0.0:1.0:0.0	.	412;501;502	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	L	506;502;164	ENSP00000315775:P506L	ENSP00000315775:P506L	P	-	2	0	COG4	69087800	1.000000	0.71417	0.974000	0.42286	0.352000	0.29268	9.623000	0.98386	2.873000	0.98535	0.561000	0.74099	CCT	COG4	-	NULL		0.552	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3	G			70530299	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70530299	G	A	70530299	3	1	105	1	0	0	0	0	1	0	0	0	3665	1000	35	4	884	4	COG4	16	70530299	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2837439	70530299	19824454	166	15639										
HPR	3250	genome.wustl.edu	37	chr16	72110600	72110600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aagtagggcgtgtgggttacGtgtctggctggggacaaagt	18	5	1	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:72110600G>A	ENST00000540303.2	+	5	699	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.V223M|HPR_ENST00000228226.8_Missense_Mutation_p.V260M	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	223	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGTGGGTTACGTGTCTGGCTG	0.453																																																	0													190	139	156					16																	72110600		2057	4186	6243	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.667G>A	16.37:g.72110600G>A	ENSP00000441828:p.Val223Met		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V260M	ENST00000540303.2	37	c.778	CCDS42193.1	16	.	.	.	.	.	.	.	.	.	.	.	10.38	1.334252	0.24253	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.94828	-3.53;-3.53;-3.53	2.5	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.074700	0.56097	D	0.000037	D	0.97334	0.9128	H	0.97051	3.93	0.37494	D	0.91651	D	0.60160	0.987	P	0.61201	0.885	D	0.97267	0.9908	10	0.87932	D	0	.	7.2984	0.26405	0.1436:0.0:0.8564:0.0	.	223	P00739	HPTR_HUMAN	M	223;223;260	ENSP00000349451:V223M;ENSP00000441828:V223M;ENSP00000228226:V260M	ENSP00000228226:V260M	V	+	1	0	HP	70668101	1.000000	0.71417	0.282000	0.24776	0.004000	0.04260	5.945000	0.70226	1.386000	0.46466	0.205000	0.17691	GTG	HPR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6		0.453	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPR	HGNC	protein_coding	OTTHUMT00000421696.1	G	NM_020995		72110600	1	no_errors	ENST00000228226	ensembl	human	known	70_37	missense	SNP	0.970	A	A	72110600	G	A	72110600	3	1	105	1	0	0	0	0	1	0	0	0	7357	1145	40	2	685	2	HPR	16	72110600	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1580301	72110600	18244153	167	15640										
SLC38A8	146167	genome.wustl.edu	37	chr16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gggccagaggtagtactgcaCggtgatgaccagggccaggt	17	9	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622																																																	0													145	115	125					16																	84065527		2200	4300	6500	SO:0001583	missense	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.577G>A	16.37:g.84065527C>T	ENSP00000299709:p.Val193Met			Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.V193M	ENST00000299709.3	37	c.577	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139508	0.56936	.	.	ENSG00000166558	ENST00000299709	T	0.02498	4.27	4.92	3.97	0.46021	.	0.334050	0.28706	N	0.014420	T	0.09555	0.0235	M	0.68952	2.095	0.31577	N	0.655582	D	0.67145	0.996	P	0.61397	0.888	T	0.02385	-1.1167	10	0.46703	T	0.11	.	8.7386	0.34543	0.0:0.7522:0.1628:0.0849	.	193	A6NNN8	S38A8_HUMAN	M	193	ENSP00000299709:V193M	ENSP00000299709:V193M	V	-	1	0	SLC38A8	82623028	0.000000	0.05858	0.921000	0.36526	0.635000	0.38103	0.166000	0.16583	1.226000	0.43582	0.549000	0.68633	GTG	SLC38A8	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	C	NM_001080442		84065527	-1	no_errors	ENST00000299709	ensembl	human	known	70_37	missense	SNP	0.986	T	T	84065527	C	T	84065527	3	4	105	1	0	0	0	0	1	0	0	0	14640	536	19	2	758	2	SLC38A8	16	84065527	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	11954927	84065527	6289226	168	15641										
SLC16A11	162515	genome.wustl.edu	37	chr17	6945799	6945799	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cgtgtgaacagactcaggccGagggcagctaggggactacg	16	10	1	2	rs543474396		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:6945799G>T	ENST00000308009.1	-	3	1039	c.702C>A	c.(700-702)ctC>ctA	p.L234L	SLC16A11_ENST00000447225.1_Silent_p.L210L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	234					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GACTCAGGCCGAGGGCAGCTA	0.662																																																	0													10	8	9					17																	6945799		2166	4247	6413	SO:0001819	synonymous_variant	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.702C>A	17.37:g.6945799G>T				Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L234	ENST00000308009.1	37	c.702	CCDS11086.1	17																																																																																			SLC16A11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.662	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	G	NM_153357		6945799	-1	no_errors	ENST00000308009	ensembl	human	known	70_37	silent	SNP	0.395	T	T	6945799	G	T	6945799	2	4	105	1	0	0	0	0	0	0	0	1	14434	1045	37	3		3	SLC16A11	17	6945799	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		6945799	74249411	169	15642										
MYH10	4628	genome.wustl.edu	37	chr17	8381688	8381688	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctggtccgcgtgtcgacgctCatcctcaacctgcatgaaga	10	14	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:8381688C>T	ENST00000269243.4	-	39	5719	c.5581G>A	c.(5581-5583)Gag>Aag	p.E1861K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1877K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1892K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1882K|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1861					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTCGACGCTCATCCTCAACC	0.532																																																	0													159	130	140					17																	8381688		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5581G>A	17.37:g.8381688C>T	ENSP00000269243:p.Glu1861Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1882K	ENST00000269243.4	37	c.5644	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430208	0.62844	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	4.78	4.78	0.61160	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88328	0.6407	M	0.93328	3.405	0.80722	D	1	B;B;B	0.26902	0.163;0.135;0.163	B;B;B	0.36766	0.232;0.149;0.232	D	0.89134	0.3512	10	0.87932	D	0	.	18.3727	0.90412	0.0:1.0:0.0:0.0	.	1870;1892;1861	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1861;1892;1882;1877	ENSP00000269243:E1861K;ENSP00000353590:E1892K;ENSP00000379539:E1882K;ENSP00000369315:E1877K	ENSP00000269243:E1861K	E	-	1	0	MYH10	8322413	1.000000	0.71417	0.275000	0.24674	0.089000	0.18198	7.609000	0.82925	2.657000	0.90304	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_tail,superfamily_HR1_rho-bd		0.532	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8381688	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8381688	C	T	8381688	3	4	105	1	0	0	0	0	1	0	0	0	10053	835	29	1	361	1	MYH10	17	8381688	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1435889	8381688	72813522	170	15643										
USP43	124739	genome.wustl.edu	37	chr17	9583647	9583647	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gagataatgtgtatgcctttCaagttcctccctcacccagc	7	13	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:9583647C>G	ENST00000285199.7	+	6	1165	c.1069C>G	c.(1069-1071)Caa>Gaa	p.Q357E	USP43_ENST00000570475.1_Missense_Mutation_p.Q357E|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	357	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTATGCCTTTCAAGTTCCTCC	0.463																																																	0													116	108	111					17																	9583647		1880	4111	5991	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1069C>G	17.37:g.9583647C>G	ENSP00000285199:p.Gln357Glu		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q357E	ENST00000285199.7	37	c.1069	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159665	0.21454	.	.	ENSG00000154914	ENST00000285199	T	0.06294	3.32	5.64	4.62	0.57501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.070605	0.56097	D	0.000022	T	0.04907	0.0132	N	0.05306	-0.075	0.48696	D	0.999692	P;P;B	0.52170	0.951;0.94;0.034	P;P;B	0.51297	0.665;0.535;0.041	T	0.38265	-0.9669	10	0.02654	T	1	-1.1461	13.7578	0.62948	0.0:0.8448:0.1552:0.0	.	357;46;357	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	E	357	ENSP00000285199:Q357E	ENSP00000285199:Q357E	Q	+	1	0	USP43	9524372	1.000000	0.71417	0.990000	0.47175	0.873000	0.50193	3.413000	0.52686	2.666000	0.90696	0.591000	0.81541	CAA	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.463	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9583647	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9583647	C	G	9583647	3	3	105	1	0	0	0	0	1	0	0	0	17105	827	29	1	1091	1	USP43	17	9583647	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1201959	9583647	71611563	171	15644										
MYH1	4619	genome.wustl.edu	37	chr17	10399833	10399833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gttcaactcaagctggatgcGcaggatctttccctcttcat	8	12	5	0	rs555367957	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:10399833G>A	ENST00000226207.5	-	34	4784	c.4690C>T	c.(4690-4692)Cgc>Tgc	p.R1564C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1564					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTGGATGCGCAGGATCTTT	0.393													G|||	3	0.000599042	0	0	5008	,	,		22230	0		0	False		,,,				2504	0.0031																0													94	94	94					17																	10399833		2203	4297	6500	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4690C>T	17.37:g.10399833G>A	ENSP00000226207:p.Arg1564Cys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1564C	ENST00000226207.5	37	c.4690	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265365	0.59431	.	.	ENSG00000109061	ENST00000226207	D	0.84800	-1.9	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.94460	0.8217	M	0.93283	3.4	0.58432	D	0.999991	D	0.69078	0.997	D	0.67548	0.952	D	0.95317	0.8417	10	0.87932	D	0	.	19.7889	0.96450	0.0:0.0:1.0:0.0	.	1564	P12882	MYH1_HUMAN	C	1564	ENSP00000226207:R1564C	ENSP00000226207:R1564C	R	-	1	0	MYH1	10340558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.124000	0.50461	2.734000	0.93682	0.655000	0.94253	CGC	MYH1	-	pfam_Myosin_tail		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	G	NM_005963		10399833	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10399833	G	A	10399833	3	1	105	1	0	0	0	0	1	0	0	0	10052	1087	38	2	1157	2	MYH1	17	10399833	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	816186	10399833	70795377	172	15645										
CCDC144NL	339184	genome.wustl.edu	37	chr17	20799133	20799133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgctggagctggtctaaggcGccctcaccgtgcttgctctc	12	14	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:20799133G>A	ENST00000327925.5	-	1	320	c.201C>T	c.(199-201)ggC>ggT	p.G67G	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	67										large_intestine(3)|lung(3)|skin(1)	7						GGTCTAAGGCGCCCTCACCGT	0.642																																																	0													74	85	81					17																	20799133		2203	4300	6503	SO:0001819	synonymous_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.201C>T	17.37:g.20799133G>A				Silent	SNP	NULL	p.G67	ENST00000327925.5	37	c.201	CCDS32591.1	17																																																																																			CCDC144NL	-	NULL		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	HGNC	protein_coding	OTTHUMT00000255361.2	G	NM_001004306		20799133	-1	no_errors	ENST00000327925	ensembl	human	known	70_37	silent	SNP	0.000	A	A	20799133	G	A	20799133	2	1	105	1	0	0	0	0	0	0	0	1	2784	1074	38	2		2	CCDC144NL	17	20799133	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	10399300	20799133	60396077	173	15646										
GPR179	440435	genome.wustl.edu	37	chr17	36485781	36485781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggaggccagctttgggcagtTcctgccacccgacaggggtt	15	12	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:36485781T>C	ENST00000342292.4	-	11	3691	c.3671A>G	c.(3670-3672)gAa>gGa	p.E1224G	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1224					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTGGGCAGTTCCTGCCACCC	0.562																																																	0													95	103	100					17																	36485781		1920	4142	6062	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3671A>G	17.37:g.36485781T>C	ENSP00000345060:p.Glu1224Gly			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E1224G	ENST00000342292.4	37	c.3671	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	T	7.657	0.684137	0.14907	.	.	ENSG00000188888	ENST00000342292	T	0.57595	0.39	5.32	4.21	0.49690	.	0.409242	0.24791	N	0.035564	T	0.44540	0.1298	L	0.50333	1.59	0.09310	N	1	B	0.22683	0.073	B	0.23275	0.045	T	0.42378	-0.9455	10	0.62326	D	0.03	-11.6847	7.9523	0.30023	0.0:0.093:0.0:0.907	.	1224	Q6PRD1	GP179_HUMAN	G	1224	ENSP00000345060:E1224G	ENSP00000345060:E1224G	E	-	2	0	GPR179	33739307	0.000000	0.05858	0.180000	0.23079	0.049000	0.14656	0.633000	0.24598	2.235000	0.73313	0.334000	0.21626	GAA	GPR179	-	NULL		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	T			36485781	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.023	C	C	36485781	T	C	36485781	3	2	105	1	0	0	0	0	1	0	0	0	6693	1783	62	5	3436	5	GPR179	17	36485781	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	15686648	36485781	44709429	174	15647										
MED24	9862	genome.wustl.edu	37	chr17	38183201	38183201	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caggggtggtcagggttcagGatcttgccctcctcaggcat	14	11	4	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:38183201G>A	ENST00000394128.2	-	17	1698	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	MED24_ENST00000501516.3_Silent_p.I558I|MED24_ENST00000394127.2_Silent_p.I526I|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394126.1_Silent_p.I564I|MED24_ENST00000356271.3_Silent_p.I526I	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	539					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.I539I(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CAGGGTTCAGGATCTTGCCCT	0.602											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	lung(1)											55	51	52					17																	38183201		2203	4300	6503	SO:0001819	synonymous_variant	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1617C>T	17.37:g.38183201G>A		876	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	pfam_Mediator_Med24_N	p.I539	ENST00000394128.2	37	c.1617	CCDS11359.1	17																																																																																			MED24	-	pfam_Mediator_Med24_N		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	G	NM_014815		38183201	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38183201	G	A	38183201	2	1	105	1	0	0	0	0	0	0	0	1	9465	1164	41	1		1	MED24	17	38183201	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1697420	38183201	43012009	175	15648										
ACLY	47	genome.wustl.edu	37	chr17	40061806	40061806	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttctctcgggtcatgagggaGaggatagtcttggcatagtc	14	7	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:40061806G>C	ENST00000352035.2	-	9	1102	c.972C>G	c.(970-972)ctC>ctG	p.L324L	ACLY_ENST00000353196.1_Silent_p.L324L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Silent_p.L324L|ACLY_ENST00000590151.1_Silent_p.L324L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	324					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCATGAGGGAGAGGATAGTCT	0.572																																					Colon(64;807 1396 15971 30971)												0													184	157	166					17																	40061806		2203	4300	6503	SO:0001819	synonymous_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.972C>G	17.37:g.40061806G>C			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.L324	ENST00000352035.2	37	c.972	CCDS11412.1	17																																																																																			ACLY	-	superfamily_Succinyl-CoA_synth-like,pirsf_ATP-citrate_synthase		0.572	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	G	NM_001096		40061806	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	silent	SNP	0.877	C	C	40061806	G	C	40061806	2	2	105	1	0	0	0	0	0	0	0	1	143	929	33	1		1	ACLY	17	40061806	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1878605	40061806	41133404	176	15649										
STAT5A	6776	genome.wustl.edu	37	chr17	40453318	40453318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcatcattgagaagcagcctCctcaggtcctgaagacccag	9	13	3	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:40453318C>T	ENST00000345506.4	+	10	1657	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	STAT5A_ENST00000588868.1_Missense_Mutation_p.P339S|STAT5A_ENST00000452307.2_Missense_Mutation_p.P339S|STAT5A_ENST00000590949.1_Missense_Mutation_p.P339S|STAT5A_ENST00000546010.2_Missense_Mutation_p.P309S	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	339					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GAAGCAGCCTCCTCAGGTCCT	0.602																																																	0													163	143	150					17																	40453318		2203	4300	6503	SO:0001583	missense	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1015C>T	17.37:g.40453318C>T	ENSP00000341208:p.Pro339Ser		Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.P339S	ENST00000345506.4	37	c.1015	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934975	0.92458	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.96168	-3.93;-3.93;-3.93	4.87	4.87	0.63330	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;1.0;1.0	D	0.99260	1.0890	10	0.87932	D	0	-9.3342	18.0732	0.89417	0.0:1.0:0.0:0.0	.	309;341;339	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	S	339;309;341;339	ENSP00000341208:P339S;ENSP00000443107:P309S;ENSP00000400320:P339S	ENSP00000341208:P339S	P	+	1	0	STAT5A	37706844	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.696000	0.84270	2.274000	0.75844	0.306000	0.20318	CCT	STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.602	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	C	NM_003152		40453318	1	no_errors	ENST00000345506	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40453318	C	T	40453318	3	4	105	1	0	0	0	0	1	0	0	0	15298	855	30	1	1045	1	STAT5A	17	40453318	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	391512	40453318	40741892	177	15650										
CRHR1	1394	genome.wustl.edu	37	chr17	43907534	43907534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cctgcgcaacgccacctggtTcgtggtccagctaaccatga	10	15	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:43907534T>C	ENST00000398285.3	+	7	596	c.596T>C	c.(595-597)tTc>tCc	p.F199S	CRHR1_ENST00000339069.5_Missense_Mutation_p.F69S|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.F170S|CRHR1_ENST00000352855.5_Missense_Mutation_p.F130S|CRHR1_ENST00000577353.1_Missense_Mutation_p.F170S	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	199					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCACCTGGTTCGTGGTCCAG	0.627																																					Ovarian(110;57 1568 10207 38216 49865)												0													95	98	97					17																	43907534		2185	4269	6454	SO:0001583	missense	1394			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.596T>C	17.37:g.43907534T>C	ENSP00000381333:p.Phe199Ser		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.F199S	ENST00000398285.3	37	c.596	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505972	0.85282	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.090459	0.85682	D	0.000000	T	0.66567	0.2802	M	0.89163	3.01	0.80722	D	1	P;P;P;P;P;P	0.49447	0.83;0.924;0.494;0.661;0.907;0.83	P;P;B;P;P;P	0.52823	0.586;0.71;0.371;0.497;0.586;0.586	T	0.74321	-0.3703	10	0.87932	D	0	.	13.5984	0.62004	0.0:0.0:0.0:1.0	.	170;199;69;69;130;170	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	S	69;199;170;170;130	ENSP00000340522:F69S;ENSP00000381333:F199S;ENSP00000326060:F170S;ENSP00000344068:F130S	ENSP00000326060:F170S	F	+	2	0	CRHR1	41263315	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	8.031000	0.88826	2.102000	0.63906	0.459000	0.35465	TTC	CRHR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.627	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	T			43907534	1	no_errors	ENST00000398285	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43907534	T	C	43907534	3	2	105	1	0	0	0	0	1	0	0	0	3876	1783	62	5	622	5	CRHR1	17	43907534	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	3454216	43907534	37287676	178	15651										
SLC35B1	10237	genome.wustl.edu	37	chr17	47780371	47780371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acaaccgtcataaagatgaaGctctagagaaagataaaggt	9	6	2	4			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr17:47780371G>T	ENST00000240333.6	-	8	886	c.765C>A	c.(763-765)agC>agA	p.S255R	SLC35B1_ENST00000415270.2_Missense_Mutation_p.S292R			P78383	S35B1_HUMAN	solute carrier family 35, member B1	255					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						TAAAGATGAAGCTCTAGAGAA	0.463																																																	0													116	117	117					17																	47780371		2203	4300	6503	SO:0001583	missense	10237			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.765C>A	17.37:g.47780371G>T	ENSP00000240333:p.Ser255Arg		B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	pfam_UAA,pfam_DMT,pfam_DUF250	p.S292R	ENST00000240333.6	37	c.876	CCDS11552.1	17	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438141	0.25900	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.69685	-0.42;-0.42;1.6	5.16	2.13	0.27403	.	0.046027	0.85682	D	0.000000	T	0.59115	0.2170	L	0.36672	1.1	0.46609	D	0.99912	P;P	0.34909	0.475;0.475	B;B	0.43889	0.356;0.435	T	0.49476	-0.8936	10	0.28530	T	0.3	-0.0386	8.9987	0.36068	0.3028:0.0:0.6972:0.0	.	188;255	D3DTX1;P78383	.;S35B1_HUMAN	R	255;292;131;131;188	ENSP00000240333:S255R;ENSP00000409548:S292R;ENSP00000423323:S188R	ENSP00000240333:S255R	S	-	3	2	SLC35B1	45135370	0.990000	0.36364	1.000000	0.80357	0.886000	0.51366	0.245000	0.18142	0.340000	0.23745	0.655000	0.94253	AGC	SLC35B1	-	pfam_UAA,pfam_DMT,pfam_DUF250		0.463	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	G	NM_005827		47780371	-1	no_errors	ENST00000415270	ensembl	human	known	70_37	missense	SNP	0.997	T	T	47780371	G	T	47780371	3	4	105	1	0	0	0	0	1	0	0	0	14605	962	34	4	211	4	SLC35B1	17	47780371	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3872837	47780371	33414839	179	15652										
GNAL	2774	genome.wustl.edu	37	chr18	11753944	11753944	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	actgactttgaatattcccaGgtaagaaatgcttactgaaa	7	7	0	4			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr18:11753944G>T	ENST00000423027.3	+	4	714	c.393G>T	c.(391-393)caG>caT	p.Q131H	GNAL_ENST00000269162.5_Splice_Site_p.Q131H|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000334049.6_Splice_Site_p.Q208H|GNAL_ENST00000535121.1_Splice_Site_p.Q131H			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	131					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AATATTCCCAGGTAAGAAATG	0.343																																																	0													71	72	71					18																	11753944		2203	4300	6503	SO:0001630	splice_region_variant	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.393+1G>T	18.37:g.11753944G>T			B7ZA26|Q86XU3	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.Q208H	ENST00000423027.3	37	c.624	CCDS11852.1	18	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660288	0.67586	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	3.78	0.43462	G protein alpha subunit, helical insertion (2);	0.255684	0.47093	N	0.000248	D	0.88209	0.6375	L	0.33093	0.98	0.80722	D	1	P;P	0.42556	0.783;0.727	P;P	0.53266	0.516;0.722	D	0.87391	0.2363	10	0.87932	D	0	.	10.5169	0.44896	0.069:0.0:0.7968:0.1342	.	131;208	P38405;Q86XU3	GNAL_HUMAN;.	H	70;208;131;131;131	ENSP00000334051:Q208H;ENSP00000439023:Q131H;ENSP00000269162:Q131H;ENSP00000408489:Q131H	ENSP00000269162:Q131H	Q	+	3	2	GNAL	11743944	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.460000	0.66691	0.705000	0.31890	0.561000	0.74099	CAG	GNAL	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.343	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2	G	NM_182978, NM_002071	Missense_Mutation	11753944	1	no_errors	ENST00000334049	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11753944	G	T	11753944	5	4	105	1	0	0	0	0	0	0	1	0	6526	1014	35	4	787	4	GNAL	18	11753944	Splice_Site	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		11753944	66323304	180	15653										
ESCO1	114799	genome.wustl.edu	37	chr18	19146125	19146125	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acctgttatcactgcttttaGatgtctggttactgagaata	8	7	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr18:19146125G>C	ENST00000269214.5	-	6	2625	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	563					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ACTGCTTTTAGATGTCTGGTT	0.318																																																	0													163	174	170					18																	19146125		2203	4298	6501	SO:0001583	missense	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1688C>G	18.37:g.19146125G>C	ENSP00000269214:p.Ser563Cys		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	NULL	p.S563C	ENST00000269214.5	37	c.1688	CCDS32800.1	18	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972600	0.34848	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.61510	0.1;1.53	4.55	1.66	0.24008	.	0.703360	0.13010	N	0.420951	T	0.58581	0.2132	L	0.54323	1.7	0.34413	D	0.696541	D	0.61697	0.99	P	0.52710	0.707	T	0.62886	-0.6759	10	0.44086	T	0.13	-5.9168	6.6608	0.23012	0.33:0.0:0.67:0.0	.	563	Q5FWF5	ESCO1_HUMAN	C	563	ENSP00000269214:S563C;ENSP00000372763:S563C	ENSP00000269214:S563C	S	-	2	0	ESCO1	17400123	1.000000	0.71417	0.089000	0.20774	0.551000	0.35334	1.718000	0.38001	0.091000	0.17302	-0.379000	0.06801	TCT	ESCO1	-	NULL		0.318	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO1	HGNC	protein_coding	OTTHUMT00000443942.1	G	NM_052911		19146125	-1	no_errors	ENST00000269214	ensembl	human	known	70_37	missense	SNP	0.984	C	C	19146125	G	C	19146125	3	2	105	1	0	0	0	0	1	0	0	0	5260	942	33	1	862	1	ESCO1	18	19146125	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	7392181	19146125	58931123	181	15654										
KIAA0427	9811	genome.wustl.edu	37	chr18	46284630	46284630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccctggccccggtggcttctGagcggctgcccccacagcag	13	18	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr18:46284630G>C	ENST00000256413.3	+	8	1220	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	CTIF_ENST00000382998.4_Missense_Mutation_p.E309Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	309					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGTGGCTTCTGAGCGGCTGCC	0.632																																																	0													49	58	55					18																	46284630		2203	4300	6503	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.925G>C	18.37:g.46284630G>C	ENSP00000256413:p.Glu309Gln		B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E309Q	ENST00000256413.3	37	c.925	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267846	0.40095	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.47528	0.84;0.84	5.51	4.64	0.57946	.	0.454661	0.22727	N	0.056364	T	0.38161	0.1030	L	0.38175	1.15	0.37309	D	0.909042	B;B	0.26258	0.145;0.09	B;B	0.27380	0.079;0.036	T	0.33163	-0.9879	10	0.27785	T	0.31	-20.3236	12.2877	0.54800	0.0779:0.0:0.9221:0.0	.	309;309	O43310-2;O43310	.;CTIF_HUMAN	Q	309;309;261	ENSP00000256413:E309Q;ENSP00000372459:E309Q	ENSP00000256413:E309Q	E	+	1	0	CTIF	44538628	1.000000	0.71417	0.019000	0.16419	0.963000	0.63663	5.472000	0.66768	1.325000	0.45301	0.561000	0.74099	GAG	CTIF	-	NULL		0.632	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	G	NM_014772		46284630	1	no_errors	ENST00000382998	ensembl	human	known	70_37	missense	SNP	0.853	C	C	46284630	G	C	46284630	3	2	105	1	0	0	0	0	1	0	0	0	8196	1291	45	1	951	1	KIAA0427	18	46284630	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	27138505	46284630	31792618	182	15655										
SERPINB11	89778	genome.wustl.edu	37	chr18	61387323	61387323	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctggtgaatgccatatatttCaaaggacaatggcaaaataa	8	6	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr18:61387323C>G	ENST00000382749.5	+	0	797				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCATATATTTCAAAGGACAAT	0.323																																					Ovarian(27;496 784 5942 8975 23930)												0													65	67	66					18																	61387323		1818	4085	5903			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387323C>G			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F9L	ENST00000382749.5	37	c.27		18	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757894	0.69648	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	D;D	0.92149	-2.98;-2.98	5.5	3.69	0.42338	Serpin domain (3);	.	.	.	.	D	0.94082	0.8103	M	0.90814	3.15	0.24966	N	0.991698	P;P;D	0.52996	0.707;0.897;0.957	B;B;P	0.50490	0.415;0.357;0.642	D	0.88451	0.3049	9	0.87932	D	0	.	6.7942	0.23717	0.0:0.6474:0.1345:0.2182	.	9;184;184	F5GWT8;F5GYW9;Q96P15	.;.;SPB11_HUMAN	L	184;9	ENSP00000441497:F184L;ENSP00000441708:F9L	ENSP00000421854:F184L	F	+	3	2	SERPINB11	59538303	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.341000	0.33907	1.460000	0.47911	-0.251000	0.11542	TTC	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.323	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61387323	1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61387323	C	G	61387323	1	3	105	0	1	0	0	0	0	0	0	0	14128	825	29	1		1	SERPINB11	18	61387323	RNA	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	15102693	61387323	16689925	183	15656										
CTDP1	9150	genome.wustl.edu	37	chr18	77474779	77474779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccgggtggcaccgggacagcGgcctgcccagggtgccacgg	18	15	0	0	rs377684676		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr18:77474779G>A	ENST00000299543.7	+	8	1466	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	CTDP1_ENST00000075430.7_Missense_Mutation_p.R440Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	440					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCGGGACAGCGGCCTGCCCAG	0.701																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG	1,4335		0,1,2167	9	11	10		1319,1319,962	-0.5	0	18		10	0,8500		0,0,4250	no	missense,missense,missense	CTDP1	NM_048368.3,NM_004715.4,NM_001202504.1	43,43,43	0,1,6417	AA,AG,GG		0.0,0.0231,0.0078	benign,benign,benign	440/868,440/962,321/843	77474779	1,12835	2168	4250	6418	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1319G>A	18.37:g.77474779G>A	ENSP00000299543:p.Arg440Gln		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.R440Q	ENST00000299543.7	37	c.1319	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	G	4.229	0.041348	0.08196	2.31E-4	0.0	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.09073	3.03;3.02	4.42	-0.507	0.11985	.	0.924510	0.09223	N	0.831598	T	0.05914	0.0154	L	0.31926	0.97	0.09310	N	1	B;B;B	0.14012	0.008;0.009;0.005	B;B;B	0.06405	0.001;0.002;0.001	T	0.46911	-0.9157	10	0.09843	T	0.71	-12.5877	8.5847	0.33651	0.7049:0.0:0.2951:0.0	.	321;440;440	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	Q	440	ENSP00000299543:R440Q;ENSP00000075430:R440Q	ENSP00000075430:R440Q	R	+	2	0	CTDP1	75575767	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	-0.008000	0.12788	-0.029000	0.13827	-0.471000	0.05019	CGG	CTDP1	-	NULL		0.701	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	G	NM_004715		77474779	1	no_errors	ENST00000299543	ensembl	human	known	70_37	missense	SNP	0.040	A	A	77474779	G	A	77474779	3	1	105	1	0	0	0	0	1	0	0	0	4007	1116	39	2	1349	2	CTDP1	18	77474779	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	16087456	77474779	602469	184	15657										
APC2	10297	genome.wustl.edu	37	chr19	1456386	1456386	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	accctgaggatggcacccctCagccgggcaacagcaaggtg	13	14	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:1456386C>T	ENST00000535453.1	+	7	2512	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Intron|APC2_ENST00000233607.2_Nonsense_Mutation_p.Q267*			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCACCCCTCAGCCGGGCAA	0.677																																																	0													23	23	23					19																	1456386		2188	4292	6480	SO:0001587	stop_gained	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.799C>T	19.37:g.1456386C>T	ENSP00000442954:p.Gln267*		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Nonsense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.Q267*	ENST00000535453.1	37	c.799	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.448341	0.98289	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	.	.	.	4.66	4.66	0.58398	.	0.349959	0.24823	N	0.035318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-33.9234	13.0426	0.58908	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000233607:Q267X	Q	+	1	0	APC2	1407386	0.155000	0.22806	0.995000	0.50966	0.754000	0.42855	2.210000	0.42816	2.136000	0.66102	0.455000	0.32223	CAG	APC2	-	NULL		0.677	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	C	NM_005883		1456386	1	no_errors	ENST00000233607	ensembl	human	known	70_37	nonsense	SNP	0.631	T	T	1456386	C	T	1456386	4	4	105	1	0	0	0	0	0	1	0	0	764	827	29	1	825	1	APC2	19	1456386	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		1456386	57672597	185	15658										
APBA3	9546	genome.wustl.edu	37	chr19	3759797	3759797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctgctcagcagaggccccctCcacccattctggggagtcag	11	16	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:3759797C>T	ENST00000316757.3	-	2	666	c.466G>A	c.(466-468)Gag>Aag	p.E156K	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	156					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCTCCACCCATTCT	0.642																																																	0													22	26	25					19																	3759797		2201	4294	6495	SO:0001583	missense	9546			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.466G>A	19.37:g.3759797C>T	ENSP00000315136:p.Glu156Lys		O60483|Q9UPZ2	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.E156K	ENST00000316757.3	37	c.466	CCDS12110.1	19	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836196	0.32421	.	.	ENSG00000011132	ENST00000316757	T	0.07216	3.21	4.39	3.35	0.38373	.	1.027280	0.07770	N	0.951508	T	0.06325	0.0163	L	0.29908	0.895	0.09310	N	1	B	0.26363	0.147	B	0.15870	0.014	T	0.40739	-0.9547	10	0.09338	T	0.73	.	9.1769	0.37118	0.0:0.8953:0.0:0.1047	.	156	O96018	APBA3_HUMAN	K	156	ENSP00000315136:E156K	ENSP00000315136:E156K	E	-	1	0	APBA3	3710797	0.004000	0.15560	0.199000	0.23439	0.045000	0.14185	1.379000	0.34340	0.842000	0.35045	0.561000	0.74099	GAG	APBA3	-	NULL		0.642	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	HGNC	protein_coding	OTTHUMT00000453634.2	C			3759797	-1	no_errors	ENST00000316757	ensembl	human	known	70_37	missense	SNP	0.022	T	T	3759797	C	T	3759797	3	4	105	1	0	0	0	0	1	0	0	0	758	864	30	1	1301	1	APBA3	19	3759797	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2303411	3759797	55369186	186	15659										
RFX2	5990	genome.wustl.edu	37	chr19	6047497	6047497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcgaatccgctccaccctcgGaattctgcatgctcaggtct	9	15	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:6047497G>T	ENST00000303657.5	-	2	160	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	RFX2_ENST00000359161.3_Missense_Mutation_p.S4Y|RFX2_ENST00000592546.1_Missense_Mutation_p.S4Y	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCACCCTCGGAATTCTGCAT	0.617											OREG0025192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(38;171 817 19800 47433 48051)												0													25	24	24					19																	6047497		2190	4299	6489	SO:0001583	missense	5990				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.11C>A	19.37:g.6047497G>T	ENSP00000306335:p.Ser4Tyr	631	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S4Y	ENST00000303657.5	37	c.11	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625210	0.87560	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	T;T	0.43294	0.95;0.95	4.81	4.81	0.61882	RFX1 transcription activation region (1);	0.141154	0.49916	D	0.000121	T	0.61590	0.2359	M	0.73598	2.24	0.58432	D	0.999999	P;P	0.48503	0.891;0.911	P;P	0.57846	0.735;0.828	T	0.67317	-0.5701	10	0.87932	D	0	-20.7022	16.4655	0.84077	0.0:0.0:1.0:0.0	.	4;4	P48378-2;P48378	.;RFX2_HUMAN	Y	4	ENSP00000306335:S4Y;ENSP00000352076:S4Y	ENSP00000306335:S4Y	S	-	2	0	RFX2	5998497	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	6.918000	0.75788	2.180000	0.69256	0.591000	0.81541	TCC	RFX2	-	pfam_RFX1_trans_act		0.617	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	G	NM_000635		6047497	-1	no_errors	ENST00000303657	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6047497	G	T	6047497	3	4	105	1	0	0	0	0	1	0	0	0	13293	1174	41	3	2228	3	RFX2	19	6047497	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2287700	6047497	53081486	187	15660										
C19orf59	199675	genome.wustl.edu	37	chr19	7743008	7743008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agtcccagcccagtgcaggcCgccctcagactccacccagg	10	19	1	1	rs142070554		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:7743008C>T	ENST00000333598.3	+	3	657	c.203C>T	c.(202-204)cCg>cTg	p.P68L	TRAPPC5_ENST00000317378.5_5'Flank|C19orf59_ENST00000597445.1_Missense_Mutation_p.P25L|TRAPPC5_ENST00000426877.2_5'Flank|TRAPPC5_ENST00000596148.1_5'Flank|CTD-3214H19.16_ENST00000597959.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		68						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAGTGCAGGCCGCCCTCAGAC	0.592											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	146	142	143		203	-3.2	0	19	dbSNP_134	143	0,8600		0,0,4300	no	missense	C19orf59	NM_174918.2	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	68/188	7743008	1,13005	2203	4300	6503	SO:0001583	missense	199675																														ENST00000333598.3:c.203C>T	19.37:g.7743008C>T	ENSP00000329920:p.Pro68Leu	644	Q8IX20	Missense_Mutation	SNP	NULL	p.P68L	ENST00000333598.3	37	c.203	CCDS12183.1	19	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494697	0.12702	2.27E-4	0.0	ENSG00000183019	ENST00000333598	T	0.26067	1.76	3.94	-3.16	0.05217	.	1.413440	0.04916	N	0.454199	T	0.13329	0.0323	N	0.19112	0.55	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.23619	-1.0183	10	0.31617	T	0.26	1.3433	2.7615	0.05307	0.3368:0.3163:0.0:0.3469	.	68	Q8IX19	MCEM1_HUMAN	L	68	ENSP00000329920:P68L	ENSP00000329920:P68L	P	+	2	0	C19orf59	7649008	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.149000	0.10204	-0.342000	0.08363	0.561000	0.74099	CCG	C19orf59	-	NULL		0.592	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf59	HGNC	protein_coding	OTTHUMT00000461248.1	C			7743008	1	no_errors	ENST00000333598	ensembl	human	known	70_37	missense	SNP	0.000	T	T	7743008	C	T	7743008	3	4	105	1	0	0	0	0	1	0	0	0	1945	652	23	2	213	2	C19orf59	19	7743008	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1695511	7743008	51385975	188	15661										
LRRC8E	80131	genome.wustl.edu	37	chr19	7964601	7964601	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cgtctaaagcagctcaatctCaaccacgagtggacgcccga	9	14	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:7964601C>G	ENST00000306708.6	+	3	1295	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L	AC010336.1_ENST00000539278.1_Missense_Mutation_p.L222F|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	398					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCTCAATCTCAACCACGAGT	0.617																																																	0													60	51	54					19																	7964601		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1194C>G	19.37:g.7964601C>G			B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	NULL	p.L222F	ENST00000306708.6	37	c.666	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482303	0.44147	.	.	ENSG00000214248	ENST00000539278	.	.	.	4.74	-0.373	0.12516	.	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78319	-0.2250	6	0.87932	D	0	.	16.3348	0.83053	0.0:0.3648:0.6352:0.0	.	.	.	.	F	222	.	ENSP00000441047:L222F	L	-	3	2	AC010336.2	7870601	0.753000	0.28349	0.997000	0.53966	0.962000	0.63368	-0.078000	0.11375	-0.089000	0.12484	0.555000	0.69702	TTG	AC010336.1	-	NULL		0.617	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000214248	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000461354.1	C	NM_025061		7964601	-1	no_errors	ENST00000539278	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7964601	C	G	7964601	2	3	105	1	0	0	0	0	0	0	0	1	9048	813	29	1		1	LRRC8E	19	7964601	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	221593	7964601	51164382	189	15662										
MAP2K7	5609	genome.wustl.edu	37	chr19	7977052	7977052	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agccttactaaagatcacagGaagagaccaaagtataataa	7	7	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:7977052G>A	ENST00000397979.3	+	10	1152	c.1098G>A	c.(1096-1098)agG>agA	p.R366R	MAP2K7_ENST00000397981.3_Silent_p.R373R|MAP2K7_ENST00000397983.3_Silent_p.R382R|MAP2K7_ENST00000545011.1_Silent_p.R408R|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						AAGATCACAGGAAGAGACCAA	0.592																																																	0													91	100	97					19																	7977052		1985	4152	6137	SO:0001819	synonymous_variant	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1098G>A	19.37:g.7977052G>A			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R408	ENST00000397979.3	37	c.1224	CCDS42491.1	19																																																																																			MAP2K7	-	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		0.592	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	HGNC	protein_coding	OTTHUMT00000267980.1	G			7977052	1	no_errors	ENST00000545011	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7977052	G	A	7977052	2	1	105	1	0	0	0	0	0	0	0	1	9265	1165	41	1		1	MAP2K7	19	7977052	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	12451	7977052	51151931	190	15663										
MUC16	94025	genome.wustl.edu	37	chr19	9058848	9058848	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agaagcctggggaagaggaaTagagttcctctgtagcactg	14	7	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:9058848T>G	ENST00000397910.4	-	3	28801	c.28598A>C	c.(28597-28599)tAt>tCt	p.Y9533S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9535	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGAGGAATAGAGTTCCTC	0.493																																																	0													118	116	117					19																	9058848		1960	4146	6106	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28598A>C	19.37:g.9058848T>G	ENSP00000381008:p.Tyr9533Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Y9533S	ENST00000397910.4	37	c.28598	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	4.267	0.048705	0.08243	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	2.3	-1.95	0.07548	.	.	.	.	.	T	0.10121	0.0248	N	0.14661	0.345	.	.	.	P	0.34977	0.478	B	0.34385	0.181	T	0.22277	-1.0221	8	0.87932	D	0	.	3.7505	0.08565	0.2195:0.0:0.4463:0.3342	.	9533	B5ME49	.	S	9533	ENSP00000381008:Y9533S	ENSP00000381008:Y9533S	Y	-	2	0	MUC16	8919848	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.005000	0.03674	-0.548000	0.06199	0.254000	0.18369	TAT	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	T	NM_024690		9058848	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	G	G	9058848	T	G	9058848	3	3	105	1	0	0	0	0	1	0	0	0	9996	1406	49	5	15253	5	MUC16	19	9058848	Missense_Mutation	SNP	T	TCGA-EK-A2RA-01A-11D-A18J-09	1081796	9058848	50070135	191	15664										
ZNF177	7730	genome.wustl.edu	37	chr19	9491916	9491916	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcttcccttaagaaacacatGagatctcatactggagagaa	7	9	2	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:9491916G>A	ENST00000589262.1	+	6	975	c.909G>A	c.(907-909)atG>atA	p.M303I	ZNF177_ENST00000602738.1_Missense_Mutation_p.M143I|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.M143I|ZNF177_ENST00000434737.2_Missense_Mutation_p.M303I|ZNF177_ENST00000541595.2_Missense_Mutation_p.M143I|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	303					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AGAAACACATGAGATCTCATA	0.448																																																	0													94	87	90					19																	9491916		2203	4300	6503	SO:0001583	missense	7730			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.909G>A	19.37:g.9491916G>A	ENSP00000468531:p.Met303Ile		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M303I	ENST00000589262.1	37	c.909	CCDS54214.1	19	.	.	.	.	.	.	.	.	.	.	G	9.994	1.231661	0.22626	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.17213	2.86;2.86;2.29	2.64	-0.767	0.11016	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	N	0.20483	0.58	0.23550	N	0.997439	B;B	0.10296	0.003;0.003	B;B	0.15484	0.004;0.013	T	0.30238	-0.9985	8	0.66056	D	0.02	.	2.5253	0.04689	0.2546:0.0:0.3414:0.404	.	303;143	B4DY57;Q13360	.;ZN177_HUMAN	I	143;143;303	ENSP00000445323:M143I;ENSP00000341497:M143I;ENSP00000415070:M303I	ENSP00000341497:M143I	M	+	3	0	ZNF177	9352916	0.000000	0.05858	0.001000	0.08648	0.992000	0.81027	-0.385000	0.07379	-0.069000	0.12931	0.563000	0.77884	ATG	ZNF177	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	G	NM_003451		9491916	1	no_errors	ENST00000434737	ensembl	human	known	70_37	missense	SNP	0.244	A	A	9491916	G	A	9491916	3	1	105	1	0	0	0	0	1	0	0	0	17776	1290	45	1	927	1	ZNF177	19	9491916	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	433068	9491916	49637067	192	15665										
NOTCH3	4854	genome.wustl.edu	37	chr19	15276805	15276805	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tggcagatcaggtcggagatGatgctagctgatgtgtcatc	14	7	2	4	rs114661066	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:15276805G>A	ENST00000263388.2	-	30	5535	c.5460C>T	c.(5458-5460)atC>atT	p.I1820I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1820					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTCGGAGATGATGCTAGCTG	0.597																																																	0													80	67	72					19																	15276805		2203	4300	6503	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5460C>T	19.37:g.15276805G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.I1820	ENST00000263388.2	37	c.5460	CCDS12326.1	19																																																																																			NOTCH3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom		0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15276805	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	silent	SNP	1.000	A	A	15276805	G	A	15276805	2	1	105	1	0	0	0	0	0	0	0	1	10574	1280	45	1		1	NOTCH3	19	15276805	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	5784889	15276805	43852178	193	15666										
AKAP8	10270	genome.wustl.edu	37	chr19	15469820	15469820	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttcactatatgtctgttgttCaaaacactcttagccacatg	5	10	4	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:15469820C>G	ENST00000269701.2	-	13	1641	c.1581G>C	c.(1579-1581)ttG>ttC	p.L527F		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	527					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GTCTGTTGTTCAAAACACTCT	0.413																																					GBM(190;1671 2163 3274 27186 30476)												0													158	142	147					19																	15469820		2203	4300	6503	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1581G>C	19.37:g.15469820C>G	ENSP00000269701:p.Leu527Phe			Missense_Mutation	SNP	pfam_AKAP95	p.L527F	ENST00000269701.2	37	c.1581	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384192	0.61845	.	.	ENSG00000105127	ENST00000269701	T	0.55930	0.49	5.84	4.81	0.61882	.	0.000000	0.44285	D	0.000474	T	0.57961	0.2089	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.59150	-0.7508	10	0.72032	D	0.01	-20.336	8.0363	0.30495	0.0:0.8425:0.0:0.1575	.	527	O43823	AKAP8_HUMAN	F	527	ENSP00000269701:L527F	ENSP00000269701:L527F	L	-	3	2	AKAP8	15330820	0.999000	0.42202	1.000000	0.80357	0.777000	0.43975	0.475000	0.22164	2.769000	0.95229	0.563000	0.77884	TTG	AKAP8	-	pfam_AKAP95		0.413	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	C	NM_005858		15469820	-1	no_errors	ENST00000269701	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15469820	C	G	15469820	3	3	105	1	0	0	0	0	1	0	0	0	457	825	29	1	505	1	AKAP8	19	15469820	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	193015	15469820	43659163	194	15667										
GLT25D1	79709	genome.wustl.edu	37	chr19	17692157	17692157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gactgggaccgcgccaagtcCcagaagatgcgggagcagca	15	12	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:17692157C>T	ENST00000252599.4	+	12	1893	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	591					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										GCGCCAAGTCCCAGAAGATGC	0.602																																																	0													94	80	85					19																	17692157		2203	4300	6503	SO:0001819	synonymous_variant	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1773C>T	19.37:g.17692157C>T			Q8NC64	Silent	SNP	pfam_Glyco_trans_25	p.S591	ENST00000252599.4	37	c.1773	CCDS12363.1	19																																																																																			GLT25D1	-	NULL		0.602	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17692157	1	no_errors	ENST00000252599	ensembl	human	known	70_37	silent	SNP	0.994	T	T	17692157	C	T	17692157	2	4	105	1	0	0	0	0	0	0	0	1	6485	610	22	4		4	GLT25D1	19	17692157	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2222337	17692157	41436826	195	15668										
HAPLN4	404037	genome.wustl.edu	37	chr19	19369519	19369519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccgtcgcgcaaccagcccgcGttgcaccagtccaggccgtc	11	19	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:19369519G>A	ENST00000291481.7	-	4	693	c.630C>T	c.(628-630)aaC>aaT	p.N210N	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	210	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	ACCAGCCCGCGTTGCACCAGT	0.751																																																	0													13	14	14					19																	19369519		2188	4249	6437	SO:0001819	synonymous_variant	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.630C>T	19.37:g.19369519G>A			A5PKW5|Q96PW2	Silent	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.N210	ENST00000291481.7	37	c.630	CCDS12398.1	19																																																																																			HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.751	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	G	NM_023002		19369519	-1	no_errors	ENST00000291481	ensembl	human	known	70_37	silent	SNP	0.975	A	A	19369519	G	A	19369519	2	1	105	1	0	0	0	0	0	0	0	1	6977	1136	40	2		2	HAPLN4	19	19369519	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	1677362	19369519	39759464	196	15669										
ZNF99	7652	genome.wustl.edu	37	chr19	22951113	22951113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcactctcacatacctggggGtttagttaccatctcatgtc	7	12	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:22951113G>A	ENST00000596209.1	-	3	310	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	ZNF99_ENST00000397104.3_Missense_Mutation_p.P95S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATACCTGGGGGTTTAGTTACC	0.423																																																	0													62	63	63					19																	22951113		2162	4293	6455	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.220C>T	19.37:g.22951113G>A	ENSP00000472969:p.Pro74Ser		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P95S	ENST00000596209.1	37	c.283	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.700522	0.00725	.	.	ENSG00000213973	ENST00000397104	T	0.05855	3.38	0.428	-0.855	0.10700	Krueppel-associated box (1);	.	.	.	.	T	0.03095	0.0091	N	0.16833	0.445	0.09310	N	1	B	0.33826	0.427	B	0.30716	0.119	T	0.45571	-0.9252	8	0.21014	T	0.42	.	.	.	.	.	95	A8MXY4	ZNF99_HUMAN	S	95	ENSP00000380293:P95S	ENSP00000380293:P95S	P	-	1	0	ZNF99	22742953	0.016000	0.18221	0.042000	0.18584	0.039000	0.13416	-0.193000	0.09573	-0.504000	0.06577	-0.515000	0.04445	CCC	ZNF99	-	pfscan_Krueppel-associated_box		0.423	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	G	XM_065124		22951113	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.056	A	A	22951113	G	A	22951113	3	1	105	1	0	0	0	0	1	0	0	0	18234	1261	44	4	2849	4	ZNF99	19	22951113	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3581594	22951113	36177870	197	15670										
ZNF536	9745	genome.wustl.edu	37	chr19	30935520	30935520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agttccgctgcgaggtgtgcGgtcaggtgttcagccaggcg	17	10	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:30935520G>A	ENST00000355537.3	+	2	1198	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	351					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGTGTGCGGTCAGGTGTT	0.652																																																	0													101	110	107					19																	30935520		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1051G>A	19.37:g.30935520G>A	ENSP00000347730:p.Gly351Ser		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G351S	ENST00000355537.3	37	c.1051	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104669	0.77096	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.45581	1.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70063	-0.4975	10	0.72032	D	0.01	-27.6561	19.5661	0.95393	0.0:0.0:1.0:0.0	.	351;351	A7E228;O15090	.;ZN536_HUMAN	S	351	ENSP00000347730:G351S	ENSP00000347730:G351S	G	+	1	0	ZNF536	35627360	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.965000	0.87945	2.631000	0.89168	0.491000	0.48974	GGT	ZNF536	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		30935520	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30935520	G	A	30935520	3	1	105	1	0	0	0	0	1	0	0	0	18004	1116	39	2	1053	2	ZNF536	19	30935520	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	7984407	30935520	28193463	198	15671										
RYR1	6261	genome.wustl.edu	37	chr19	38990352	38990352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agtgcttcggacccgccctgCggggtgagggtggctcaggg	19	11	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:38990352C>T	ENST00000359596.3	+	44	7105	c.7105C>T	c.(7105-7107)Cgg>Tgg	p.R2369W	RYR1_ENST00000355481.4_Missense_Mutation_p.R2369W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2369W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2369	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCCGCCCTGCGGGGTGAGGG	0.692																																																	0													32	28	30					19																	38990352		2203	4299	6502	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7105C>T	19.37:g.38990352C>T	ENSP00000352608:p.Arg2369Trp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R2369W	ENST00000359596.3	37	c.7105	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830185	0.50845	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97811	-4.55;-4.55;-4.55	3.99	0.109	0.14578	.	0.000000	0.64402	U	0.000001	D	0.98353	0.9453	M	0.83384	2.64	0.40669	D	0.982194	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.781	D	0.98450	1.0591	10	0.87932	D	0	.	12.4635	0.55745	0.5485:0.4515:0.0:0.0	.	2369;2369	P21817-2;P21817	.;RYR1_HUMAN	W	2369	ENSP00000352608:R2369W;ENSP00000347667:R2369W;ENSP00000354254:R2369W	ENSP00000347667:R2369W	R	+	1	2	RYR1	43682192	0.730000	0.28100	0.972000	0.41901	0.986000	0.74619	0.025000	0.13577	0.308000	0.22923	0.297000	0.19635	CGG	RYR1	-	NULL		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38990352	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	0.999	T	T	38990352	C	T	38990352	3	4	105	1	0	0	0	0	1	0	0	0	13798	759	27	2	7279	2	RYR1	19	38990352	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	8054832	38990352	20138631	199	15672										
PRX	57716	genome.wustl.edu	37	chr19	40902578	40902578	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cacctctggcacagccacctCtgacacctctgggagtttca	8	16	4	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:40902578C>T	ENST00000324001.7	-	7	1951	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	561	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACAGCCACCTCTGACACCTCT	0.562																																																	0													97	111	107					19																	40902578		2200	4297	6497	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1681G>A	19.37:g.40902578C>T	ENSP00000326018:p.Glu561Lys		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E561K	ENST00000324001.7	37	c.1681	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058292	0.19987	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01947	4.54	4.58	4.58	0.56647	.	0.124126	0.36591	N	0.002507	T	0.07638	0.0192	M	0.70595	2.14	0.20873	N	0.999835	D	0.65815	0.995	D	0.63033	0.91	T	0.24764	-1.0151	10	0.11485	T	0.65	.	10.713	0.45995	0.0:0.8065:0.1935:0.0	.	561	Q9BXM0	PRAX_HUMAN	K	561	ENSP00000326018:E561K	ENSP00000326018:E561K	E	-	1	0	PRX	45594418	.	.	1.000000	0.80357	0.039000	0.13416	.	.	2.359000	0.80004	0.563000	0.77884	GAG	PRX	-	NULL		0.562	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	C	NM_020956		40902578	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	missense	SNP	0.232	T	T	40902578	C	T	40902578	3	4	105	1	0	0	0	0	1	0	0	0	12669	922	32	1	2708	1	PRX	19	40902578	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1912226	40902578	18226405	200	15673										
CYP2A6	1548	genome.wustl.edu	37	chr19	41351907	41351907	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agcaagaagccatagcgcagGgtggtgctgacggtctcggt	16	9	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:41351907G>C	ENST00000301141.5	-	6	947	c.927C>G	c.(925-927)acC>acG	p.T309T	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	309					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CATAGCGCAGGGTGGTGCTGA	0.572																																																	0													98	85	90					19																	41351907		2203	4300	6503	SO:0001819	synonymous_variant	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.927C>G	19.37:g.41351907G>C			A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.T309	ENST00000301141.5	37	c.927	CCDS12568.1	19																																																																																			CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450		0.572	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	G	NM_000762		41351907	-1	no_errors	ENST00000301141	ensembl	human	known	70_37	silent	SNP	0.975	C	C	41351907	G	C	41351907	2	2	105	1	0	0	0	0	0	0	0	1	4167	1219	43	4		4	CYP2A6	19	41351907	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	449329	41351907	17777076	201	15674										
CNFN	84518	genome.wustl.edu	37	chr19	42891379	42891379	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aaaggtgagggccgcccagtCgtgcccgacggagccctaga	15	13	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:42891379C>G	ENST00000222032.5	-	4	314	c.265G>C	c.(265-267)Gac>Cac	p.D89H	CNFN_ENST00000597255.1_Missense_Mutation_p.D89H	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	89					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				lung(1)|prostate(1)	2		Prostate(69;0.00899)				GCCGCCCAGTCGTGCCCGACG	0.677																																																	0													28	35	32					19																	42891379		2201	4298	6499	SO:0001583	missense	84518			AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.265G>C	19.37:g.42891379C>G	ENSP00000222032:p.Asp89His		B2R569	Missense_Mutation	SNP	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	p.D89H	ENST00000222032.5	37	c.265	CCDS12606.1	19	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900601	0.72754	.	.	ENSG00000105427	ENST00000222032	.	.	.	4.49	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	M	0.92317	3.295	0.58432	D	0.99999	D	0.71674	0.998	D	0.63033	0.91	D	0.83450	0.0048	9	0.87932	D	0	-31.3634	10.2491	0.43358	0.0:0.9026:0.0:0.0974	.	89	Q9BYD5	CNFN_HUMAN	H	89	.	ENSP00000222032:D89H	D	-	1	0	CNFN	47583219	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.499000	0.66937	1.206000	0.43276	0.545000	0.68477	GAC	CNFN	-	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich		0.677	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNFN	HGNC	protein_coding	OTTHUMT00000463859.1	C	NM_032488		42891379	-1	no_errors	ENST00000222032	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42891379	C	G	42891379	3	3	105	1	0	0	0	0	1	0	0	0	3600	884	31	1	77	1	CNFN	19	42891379	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	1539472	42891379	16237604	202	15675										
PSG11	5680	genome.wustl.edu	37	chr19	43529135	43529135	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agaagaacatccttcccctcGgacactttgggtggctgggc	12	12	0	2	rs112359091	byFrequency	TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:43529135G>T	ENST00000401740.1	-	2	241	c.138C>A	c.(136-138)tcC>tcA	p.S46S	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.S46S|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	46	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCTTCCCCTCGGACACTTTGG	0.468																																																	0													194	198	197					19																	43529135		2201	4295	6496	SO:0001819	synonymous_variant	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.138C>A	19.37:g.43529135G>T			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S46	ENST00000401740.1	37	c.138	CCDS12614.2	19																																																																																			PSG11	-	pfam_Ig_V-set,smart_Ig_sub		0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	G	NM_002785		43529135	-1	no_errors	ENST00000320078	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43529135	G	T	43529135	2	4	105	1	0	0	0	0	0	0	0	1	12681	1103	39	2		2	PSG11	19	43529135	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	637756	43529135	15599848	203	15676										
PHLDB3	653583	genome.wustl.edu	37	chr19	43999435	43999435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agggccgggttgggctcagaGaagtccccgccaggtgttcc	16	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:43999435G>A	ENST00000292140.5	-	8	1368	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	336							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TGGGCTCAGAGAAGTCCCCGC	0.577																																																	0													46	50	49					19																	43999435		2013	4170	6183	SO:0001819	synonymous_variant	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1008C>T	19.37:g.43999435G>A			Q8N7Z4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F336	ENST00000292140.5	37	c.1008	CCDS12621.2	19																																																																																			PHLDB3	-	NULL		0.577	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	G			43999435	-1	no_errors	ENST00000292140	ensembl	human	known	70_37	silent	SNP	0.998	A	A	43999435	G	A	43999435	2	1	105	1	0	0	0	0	0	0	0	1	11877	933	33	1		1	PHLDB3	19	43999435	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	470300	43999435	15129548	204	15677										
FOXA3	3171	genome.wustl.edu	37	chr19	46375406	46375406	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gaccctgaatcctctaagctCtccctatccccctggggggc	9	17	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:46375406C>G	ENST00000302177.2	+	2	340	c.143C>G	c.(142-144)tCt>tGt	p.S48C		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	48					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTCTAAGCTCTCCCTATCCC	0.662																																																	0													46	56	52					19																	46375406		2202	4296	6498	SO:0001583	missense	3171			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.143C>G	19.37:g.46375406C>G	ENSP00000304004:p.Ser48Cys		A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S48C	ENST00000302177.2	37	c.143	CCDS12677.1	19	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776369	0.31411	.	.	ENSG00000170608	ENST00000302177	T	0.18960	2.18	4.3	4.3	0.51218	Fork-head N-terminal (1);	0.571052	0.16635	N	0.205913	T	0.14056	0.0340	N	0.14661	0.345	0.39245	D	0.963937	B	0.02656	0.0	B	0.06405	0.002	T	0.08046	-1.0741	10	0.40728	T	0.16	.	14.2977	0.66325	0.0:1.0:0.0:0.0	.	48	P55318	FOXA3_HUMAN	C	48	ENSP00000304004:S48C	ENSP00000304004:S48C	S	+	2	0	FOXA3	51067246	0.000000	0.05858	1.000000	0.80357	0.732000	0.41865	-0.202000	0.09451	2.236000	0.73375	0.297000	0.19635	TCT	FOXA3	-	pfam_Fork-head_N		0.662	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	C			46375406	1	no_errors	ENST00000302177	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46375406	C	G	46375406	3	3	105	1	0	0	0	0	1	0	0	0	6009	913	32	1	149	1	FOXA3	19	46375406	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2375971	46375406	12753577	205	15678										
PPP5C	5536	genome.wustl.edu	37	chr19	46887119	46887119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cgagctcaacggtttaccctCggagaccaacccctatgtat	8	14	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:46887119C>T	ENST00000012443.4	+	6	885	c.782C>T	c.(781-783)tCg>tTg	p.S261L	PPP5C_ENST00000391919.1_Missense_Mutation_p.S133L|AC007193.9_ENST00000599645.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	261	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GGTTTACCCTCGGAGACCAAC	0.557																																																	0													131	123	126					19																	46887119		2203	4300	6503	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.782C>T	19.37:g.46887119C>T	ENSP00000012443:p.Ser261Leu		Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.S261L	ENST00000012443.4	37	c.782	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883655	0.91740	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.06142	3.34;3.34	4.6	4.6	0.57074	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.986	D;D;P	0.69307	0.963;0.952;0.862	T	0.41360	-0.9513	10	0.62326	D	0.03	-5.1052	14.9379	0.70970	0.0:1.0:0.0:0.0	.	119;261;261	B7Z1I1;B2R6R6;P53041	.;.;PPP5_HUMAN	L	261;248;133	ENSP00000012443:S261L;ENSP00000375786:S133L	ENSP00000012443:S261L	S	+	2	0	PPP5C	51578959	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	7.468000	0.80943	2.111000	0.64477	0.467000	0.42956	TCG	PPP5C	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase		0.557	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	C	NM_006247		46887119	1	no_errors	ENST00000012443	ensembl	human	known	70_37	missense	SNP	0.996	T	T	46887119	C	T	46887119	3	4	105	1	0	0	0	0	1	0	0	0	12433	893	31	1	804	1	PPP5C	19	46887119	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	511713	46887119	12241864	206	15679										
PPP1R15A	23645	genome.wustl.edu	37	chr19	49377387	49377387	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccagcccagaggccccagctCaagtcctggtggtgccaacc	11	17	1	1	rs138608463		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:49377387C>G	ENST00000200453.5	+	2	1166	c.897C>G	c.(895-897)ctC>ctG	p.L299L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	299	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGCCCCAGCTCAAGTCCTGGT	0.602																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	55	64	61		897	1.1	0	19	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	PPP1R15A	NM_014330.3		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		299/675	49377387	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.897C>G	19.37:g.49377387C>G			B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.L299	ENST00000200453.5	37	c.897	CCDS12738.1	19																																																																																			PPP1R15A	-	NULL		0.602	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	C	NM_014330		49377387	1	no_errors	ENST00000200453	ensembl	human	known	70_37	silent	SNP	0.000	G	G	49377387	C	G	49377387	2	3	105	1	0	0	0	0	0	0	0	1	12390	813	29	1		1	PPP1R15A	19	49377387	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2490268	49377387	9751596	207	15680										
ZSCAN5A	79149	genome.wustl.edu	37	chr19	56733133	56733133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcgaagggcttctcccctgtGtggcttctcttgtgacactt	10	12	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:56733133G>T	ENST00000587340.1	-	7	1997	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.H433Q|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.H434Q|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.H317Q|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.H288Q			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	434					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCCCTGTGTGGCTTCTCT	0.547																																																	0													54	50	52					19																	56733133		2203	4297	6500	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1302C>A	19.37:g.56733133G>T	ENSP00000467631:p.His434Gln		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H434Q	ENST00000587340.1	37	c.1302	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218709	0.58560	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.66995	-0.24;-0.24	2.73	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84247	0.5430	M	0.93420	3.415	0.50039	D	0.999843	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87284	0.2294	9	0.87932	D	0	.	11.2261	0.48884	0.0:0.0:1.0:0.0	.	317;434	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	Q	434;317	ENSP00000375593:H434Q;ENSP00000254165:H317Q	ENSP00000254165:H317Q	H	-	3	2	ZSCAN5A	61424945	1.000000	0.71417	0.220000	0.23810	0.021000	0.10359	3.967000	0.56802	1.549000	0.49425	0.491000	0.48974	CAC	ZSCAN5A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	G	NM_024303		56733133	-1	no_errors	ENST00000391713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56733133	G	T	56733133	3	4	105	1	0	0	0	0	1	0	0	0	18268	1368	48	4	192	4	ZSCAN5A	19	56733133	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	7355746	56733133	2395850	208	15681										
ZNF835	90485	genome.wustl.edu	37	chr19	57175591	57175591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cttctcgcctgtgtggatgcGccggtgctcggccagagagg	16	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr19:57175591G>A	ENST00000537055.2	-	2	1207	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGTGGATGCGCCGGTGCTCG	0.701																																																	0													18	18	18					19																	57175591		2201	4298	6499	SO:0001583	missense	90485			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.976C>T	19.37:g.57175591G>A	ENSP00000444747:p.Arg326Cys		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R326C	ENST00000537055.2	37	c.976	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584676	0.46110	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25749	1.78	2.27	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53029	0.1771	M	0.90082	3.085	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.46610	-0.9179	9	0.87932	D	0	.	10.2739	0.43499	0.0:0.0:0.3577:0.6423	.	348	Q9Y2P0	ZN835_HUMAN	C	348;326	ENSP00000444747:R326C	ENSP00000341756:R348C	R	-	1	0	ZNF835	61867403	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-2.230000	0.01207	-0.277000	0.09193	-0.314000	0.08810	CGC	ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	G	NM_001005850		57175591	-1	no_errors	ENST00000537055	ensembl	human	known	70_37	missense	SNP	0.003	A	A	57175591	G	A	57175591	3	1	105	1	0	0	0	0	1	0	0	0	18216	1087	38	2	639	2	ZNF835	19	57175591	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	442458	57175591	1953392	209	15682										
TMC2	117532	genome.wustl.edu	37	chr20	2597838	2597838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccccatgaacgcgtgttcaaAgcctcccgatccaacaactt	6	16	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:2597838A>G	ENST00000358864.1	+	16	2076	c.2061A>G	c.(2059-2061)aaA>aaG	p.K687K	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	687					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCGTGTTCAAAGCCTCCCGAT	0.597																																																	0													200	136	157					20																	2597838		2203	4300	6503	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2061A>G	20.37:g.2597838A>G			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.K687	ENST00000358864.1	37	c.2061	CCDS13029.2	20																																																																																			TMC2	-	pfam_TMC		0.597	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	A			2597838	1	no_errors	ENST00000358864	ensembl	human	known	70_37	silent	SNP	0.956	G	G	2597838	A	G	2597838	2	3	105	1	0	0	0	0	0	0	0	1	16015	69	3	5		5	TMC2	20	2597838	Silent	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09		2597838	60427682	210	15683										
POFUT1	23509	genome.wustl.edu	37	chr20	30797944	30797944	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aagctgctaaaccgtaccttGgctgtccctccttggattga	9	12	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:30797944G>C	ENST00000375749.3	+	2	257	c.195G>C	c.(193-195)ttG>ttC	p.L65F	POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.L65F|PLAGL2_ENST00000246229.4_5'Flank	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	65					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCGTACCTTGGCTGTCCCTC	0.537																																																	0													254	205	222					20																	30797944		2203	4300	6503	SO:0001583	missense	23509			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.195G>C	20.37:g.30797944G>C	ENSP00000364902:p.Leu65Phe		A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	pfam_GDP-Fuc_O-FucTrfase	p.L65F	ENST00000375749.3	37	c.195	CCDS13198.1	20	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917549	0.52546	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.73469	-0.75;-0.75	4.87	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.86066	0.5844	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85133	0.0976	10	0.87932	D	0	-34.9264	4.9586	0.14054	0.1853:0.0:0.6479:0.1668	.	65;65	Q9H488;Q9H488-2	OFUT1_HUMAN;.	F	65	ENSP00000364902:L65F;ENSP00000364882:L65F	ENSP00000364882:L65F	L	+	3	2	POFUT1	30261605	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	1.421000	0.34815	0.987000	0.38709	0.462000	0.41574	TTG	POFUT1	-	pfam_GDP-Fuc_O-FucTrfase		0.537	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT1	HGNC	protein_coding	OTTHUMT00000078613.1	G	NM_015352		30797944	1	no_errors	ENST00000375749	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30797944	G	C	30797944	3	2	105	1	0	0	0	0	1	0	0	0	12207	1339	47	4	201	4	POFUT1	20	30797944	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	28200106	30797944	32227576	211	15684										
TRPC4AP	26133	genome.wustl.edu	37	chr20	33603935	33603935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcttgaactctgcaatcattCtgtgaacctgaatgggatag	10	8	3	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:33603935C>T	ENST00000252015.2	-	10	1315	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R11K|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R370K|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R401K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	409					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGCAATCATTCTGTGAACCTG	0.403																																																	0													102	93	96					20																	33603935		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1226G>A	20.37:g.33603935C>T	ENSP00000252015:p.Arg409Lys		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_DUF3689	p.R409K	ENST00000252015.2	37	c.1226	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	C	8.750	0.921033	0.17982	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.14	2.92	0.33932	.	0.047932	0.85682	D	0.000000	T	0.15392	0.0371	N	0.02802	-0.49	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.08055	0.001;0.003;0.002	T	0.25117	-1.0141	9	0.07482	T	0.82	.	2.6026	0.04870	0.0:0.4417:0.2991:0.2592	.	370;401;409	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	K	409;401;11;370;394	.	ENSP00000252015:R409K	R	-	2	0	TRPC4AP	33067596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.084000	0.57650	2.382000	0.81193	0.655000	0.94253	AGA	TRPC4AP	-	pfam_DUF3689		0.403	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	C	NM_015638		33603935	-1	no_errors	ENST00000252015	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33603935	C	T	33603935	3	4	105	1	0	0	0	0	1	0	0	0	16612	913	32	1	1207	1	TRPC4AP	20	33603935	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2805991	33603935	29421585	212	15685										
RPRD1B	58490	genome.wustl.edu	37	chr20	36694563	36694563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aatataacgggcgcctggcaGcagaactggaggaccgtcgc	14	11	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:36694563G>T	ENST00000373433.4	+	6	1138	c.736G>T	c.(736-738)Gca>Tca	p.A246S		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	246					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCGCCTGGCAGCAGAACTGGA	0.468																																																	0													86	100	95					20																	36694563		2203	4300	6503	SO:0001583	missense	58490			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.736G>T	20.37:g.36694563G>T	ENSP00000362532:p.Ala246Ser		Q1WDE7|Q6PKF4	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.A246S	ENST00000373433.4	37	c.736	CCDS13301.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.077454	0.94000	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.71581	2.175	0.80722	D	1	P	0.51057	0.941	P	0.45794	0.493	T	0.65713	-0.6101	9	0.44086	T	0.13	-11.4174	18.5892	0.91202	0.0:0.0:1.0:0.0	.	246	Q9NQG5	RPR1B_HUMAN	S	246;128	.	ENSP00000362532:A246S	A	+	1	0	RPRD1B	36127977	1.000000	0.71417	0.974000	0.42286	0.906000	0.53458	9.573000	0.98181	2.941000	0.99782	0.655000	0.94253	GCA	RPRD1B	-	NULL		0.468	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	G	NM_021215		36694563	1	no_errors	ENST00000373433	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36694563	G	T	36694563	3	4	105	1	0	0	0	0	1	0	0	0	13646	971	34	4	758	4	RPRD1B	20	36694563	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3090628	36694563	26330957	213	15686										
ZHX3	23051	genome.wustl.edu	37	chr20	39831615	39831615	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tcgtcgggtcattttggtttCacttctcaggcggtccagtt	11	10	3	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:39831615C>T	ENST00000309060.3	-	4	2357	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	ZHX3_ENST00000544979.2_Missense_Mutation_p.E648K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E648K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E648K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.E648K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E648K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	648					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ATTTTGGTTTCACTTCTCAGG	0.493																																																	0													140	151	147					20																	39831615		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1942G>A	20.37:g.39831615C>T	ENSP00000312222:p.Glu648Lys		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.E648K	ENST00000309060.3	37	c.1942	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226153	0.79576	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	D;D;D	0.95788	-3.81;-3.81;-3.81	6.06	6.06	0.98353	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	L	0.33093	0.98	0.51482	D	0.99992	D;D;D	0.76494	0.994;0.999;0.998	D;D;D	0.79108	0.973;0.992;0.974	D	0.95066	0.8200	10	0.33940	T	0.23	-20.7029	20.6244	0.99512	0.0:1.0:0.0:0.0	.	648;648;648	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	K	648;648;648;648;426	ENSP00000362360:E648K;ENSP00000442290:E648K;ENSP00000443783:E648K	ENSP00000312222:E648K	E	-	1	0	ZHX3	39265029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.879000	0.98667	0.650000	0.86243	GAA	ZHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831615	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39831615	C	T	39831615	3	4	105	1	0	0	0	0	1	0	0	0	17707	835	29	1	936	1	ZHX3	20	39831615	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3137052	39831615	23193905	214	15687										
CHD6	84181	genome.wustl.edu	37	chr20	40044128	40044128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gaggtccatagctgactcccCatgccagccattgaggatga	11	12	0	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:40044128C>T	ENST00000373233.3	-	34	6814	c.6637G>A	c.(6637-6639)Ggg>Agg	p.G2213R	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2213					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGACTCCCCATGCCAGCCA	0.602																																																	0													29	27	28					20																	40044128		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6637G>A	20.37:g.40044128C>T	ENSP00000362330:p.Gly2213Arg		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G2213R	ENST00000373233.3	37	c.6637	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989885	0.74589	.	.	ENSG00000124177	ENST00000373233	D	0.85339	-1.97	6.07	6.07	0.98685	.	0.097322	0.45606	D	0.000357	D	0.89357	0.6692	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88958	0.3391	10	0.62326	D	0.03	-23.4767	11.4063	0.49900	0.0:0.9188:0.0:0.0812	.	2213	Q8TD26	CHD6_HUMAN	R	2213	ENSP00000362330:G2213R	ENSP00000362330:G2213R	G	-	1	0	CHD6	39477542	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.739000	0.74827	2.890000	0.99128	0.650000	0.86243	GGG	CHD6	-	NULL		0.602	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40044128	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40044128	C	T	40044128	3	4	105	1	0	0	0	0	1	0	0	0	3334	594	21	4	1526	4	CHD6	20	40044128	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	212513	40044128	22981392	215	15688										
CSTF1	1477	genome.wustl.edu	37	chr20	54974255	54974255	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caaattatgggatggtgtttCaaatcgatgcatcacaactt	8	7	2	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:54974255C>G	ENST00000217109.4	+	5	1230	c.878C>G	c.(877-879)tCa>tGa	p.S293*	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	293					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GATGGTGTTTCAAATCGATGC	0.383																																																	0													167	145	152					20																	54974255		2203	4300	6503	SO:0001587	stop_gained	1477				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.878C>G	20.37:g.54974255C>G	ENSP00000217109:p.Ser293*		Q5QPD8	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S293*	ENST00000217109.4	37	c.878	CCDS13452.1	20	.	.	.	.	.	.	.	.	.	.	C	40	7.965956	0.98585	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000425890;ENST00000452950	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	3.4313	20.0572	0.97657	0.0:1.0:0.0:0.0	.	.	.	.	X	293;293;280;293	.	ENSP00000217109:S293X	S	+	2	0	CSTF1	54407662	1.000000	0.71417	0.946000	0.38457	0.999000	0.98932	7.615000	0.83006	2.826000	0.97356	0.655000	0.94253	TCA	CSTF1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.383	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF1	HGNC	protein_coding	OTTHUMT00000079794.2	C	NM_001033521		54974255	1	no_errors	ENST00000217109	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	54974255	C	G	54974255	4	3	105	1	0	0	0	0	0	1	0	0	3988	838	29	1	892	1	CSTF1	20	54974255	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	14930127	54974255	8051265	216	15689										
SRMS	6725	genome.wustl.edu	37	chr20	62178747	62178747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggtgccatggtccggctcgcCgcccgccggccagatcttgt	14	16	1	1	rs543252716		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:62178747C>T	ENST00000217188.1	-	1	110	c.70G>A	c.(70-72)Ggc>Agc	p.G24S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	24	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCCGGCTCGCCGCCCGCCGGC	0.711													C|||	1	0.000199681	0	0	5008	,	,		12034	0.001		0	False		,,,				2504	0																0																																										SO:0001583	missense	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.70G>A	20.37:g.62178747C>T	ENSP00000217188:p.Gly24Ser			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G24S	ENST00000217188.1	37	c.70	CCDS13525.1	20	.	.	.	.	.	.	.	.	.	.	C	2.529	-0.308933	0.05458	.	.	ENSG00000125508	ENST00000217188	T	0.74002	-0.8	3.94	-0.624	0.11552	.	1.755790	0.03363	N	0.197902	T	0.47078	0.1426	N	0.14661	0.345	0.09310	N	1	P	0.45986	0.87	B	0.23574	0.047	T	0.48980	-0.8986	10	0.27785	T	0.31	.	4.5771	0.12240	0.1428:0.468:0.0:0.3892	.	24	Q9H3Y6	SRMS_HUMAN	S	24	ENSP00000217188:G24S	ENSP00000217188:G24S	G	-	1	0	SRMS	61649191	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.726000	0.04936	-0.057000	0.13199	-1.141000	0.01876	GGC	SRMS	-	NULL		0.711	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	C	NM_080823		62178747	-1	no_errors	ENST00000217188	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62178747	C	T	62178747	3	4	105	1	0	0	0	0	1	0	0	0	15182	652	23	2	1428	2	SRMS	20	62178747	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7204492	62178747	846773	217	15690										
RTEL1	51750	genome.wustl.edu	37	chr20	62293291	62293291	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aacgagcttcggaacacctcCtaccggtgggtcagacgagt	12	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:62293291C>G	ENST00000360203.5	+	4	715	c.390C>G	c.(388-390)tcC>tcG	p.S130S	RTEL1_ENST00000370018.3_Silent_p.S130S|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.S130S|RTEL1_ENST00000508582.2_Silent_p.S130S|RTEL1_ENST00000318100.4_Silent_p.S130S					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGAACACCTCCTACCGGTGGG	0.562																																																	0													115	89	98					20																	62293291		2203	4300	6503	SO:0001819	synonymous_variant	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.390C>G	20.37:g.62293291C>G				Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S130	ENST00000360203.5	37	c.390		20																																																																																			RTEL1	-	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.562	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	C	NM_032957		62293291	1	no_errors	ENST00000318100	ensembl	human	known	70_37	silent	SNP	0.826	G	G	62293291	C	G	62293291	2	3	105	1	0	0	0	0	0	0	0	1	13750	668	24	4		4	RTEL1	20	62293291	Silent	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	114544	62293291	732229	218	15691										
RTEL1	51750	genome.wustl.edu	37	chr20	62321665	62321665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agatgccagcgccggcccccCgggctacagcacccagtgtg	13	17	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:62321665C>T	ENST00000360203.5	+	26	2609	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	RTEL1_ENST00000370018.3_Missense_Mutation_p.R762W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R7W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R762W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R786W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R762W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCGGCCCCCCGGGCTACAGC	0.632																																																	0													38	41	40					20																	62321665		2194	4293	6487	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2284C>T	20.37:g.62321665C>T	ENSP00000353332:p.Arg762Trp			Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R762W	ENST00000360203.5	37	c.2284		20	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846560	0.51164	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.50001	2.89;2.89;2.89;2.89;2.89;0.76	4.16	-0.392	0.12442	.	1.346290	0.04295	N	0.346333	T	0.55369	0.1916	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.994;0.998	P;P;P;P	0.57776	0.799;0.827;0.696;0.784	T	0.46442	-0.9191	10	0.72032	D	0.01	-2.1439	7.0443	0.25037	0.4154:0.501:0.0:0.0836	.	786;7;762;762	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	762;762;786;762;155;7	ENSP00000359035:R762W;ENSP00000322287:R762W;ENSP00000424307:R786W;ENSP00000353332:R762W;ENSP00000388063:R155W;ENSP00000359020:R7W	ENSP00000353332:R762W	R	+	1	2	AL353715.1	61792109	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.041000	0.13927	-0.219000	0.10003	-0.251000	0.11542	CGG	RTEL1	-	NULL		0.632	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	C	NM_032957		62321665	1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	0.002	T	T	62321665	C	T	62321665	3	4	105	1	0	0	0	0	1	0	0	0	13750	643	23	2	2382	2	RTEL1	20	62321665	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	28374	62321665	703855	219	15692										
SAMD10	140700	genome.wustl.edu	37	chr20	62608706	62608706	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	caagtggcaggggatgctctCagctgacaccgtgtgctcca	13	12	1	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr20:62608706C>T	ENST00000369886.3	-	2	319	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGATGCTCTCAGCTGACACC	0.652																																																	0													70	70	70					20																	62608706		2203	4300	6503	SO:0001583	missense	140700				CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"Sterile alpha motif (SAM) domain containing"	16129	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 136"	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.145G>A	20.37:g.62608706C>T	ENSP00000358902:p.Glu49Lys			Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E49K	ENST00000369886.3	37	c.145	CCDS13549.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.189206	0.94923	.	.	ENSG00000130590	ENST00000369886;ENST00000450107	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.34521	1.04	0.54753	D	0.999988	D	0.63880	0.993	D	0.70935	0.971	T	0.69665	-0.5084	9	0.62326	D	0.03	-22.7545	15.6883	0.77430	0.0:1.0:0.0:0.0	.	49	Q9BYL1	SAM10_HUMAN	K	49;88	.	ENSP00000358902:E49K	E	-	1	0	SAMD10	62079150	1.000000	0.71417	0.947000	0.38551	0.900000	0.52787	5.261000	0.65496	2.135000	0.66039	0.313000	0.20887	GAG	SAMD10	-	NULL		0.652	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD10	HGNC	protein_coding	OTTHUMT00000080255.1	C	NM_080621		62608706	-1	no_errors	ENST00000369886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62608706	C	T	62608706	3	4	105	1	0	0	0	0	1	0	0	0	13845	835	29	1	479	1	SAMD10	20	62608706	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	287041	62608706	416814	220	15693										
WDR4	10785	genome.wustl.edu	37	chr21	44273714	44273714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cacaggcctgtagagcaccaGgggggcttcctggcagtcct	14	13	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr21:44273714G>A	ENST00000398208.2	-	9	999	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.L314L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TAGAGCACCAGGGGGGCTTCC	0.647																																																	0													27	27	27					21																	44273714		2203	4300	6503	SO:0001819	synonymous_variant	10785			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.940C>T	21.37:g.44273714G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L314	ENST00000398208.2	37	c.940	CCDS13691.1	21																																																																																			WDR4	-	NULL		0.647	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	G			44273714	-1	no_errors	ENST00000330317	ensembl	human	known	70_37	silent	SNP	0.069	A	A	44273714	G	A	44273714	2	1	105	1	0	0	0	0	0	0	0	1	17324	991	35	4		4	WDR4	21	44273714	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09		44273714	3856181	221	15694										
MICAL3	57553	genome.wustl.edu	37	chr22	18314623	18314623	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	agagattttgttctgaccttCactggactcttcctcctcct	6	13	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:18314623C>A	ENST00000441493.2	-	21	3404	c.3052G>T	c.(3052-3054)Gaa>Taa	p.E1018*		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1018	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTGACCTTCACTGGActct	0.532																																																	0													129	108	114					22																	18314623		1499	3474	4973	SO:0001587	stop_gained	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3052G>T	22.37:g.18314623C>A	ENSP00000416015:p.Glu1018*		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E1018*	ENST00000441493.2	37	c.3052	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.507545	0.97624	.	.	ENSG00000093100	ENST00000441493	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.4865	0.90831	0.0:1.0:0.0:0.0	.	.	.	.	X	1018	.	ENSP00000416015:E1018X	E	-	1	0	XXbac-B461K10.4	16694623	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.792000	0.85828	2.463000	0.83235	0.551000	0.68910	GAA	MICAL3	-	NULL		0.532	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	C			18314623	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18314623	C	A	18314623	4	1	105	1	0	0	0	0	0	1	0	0	9594	835	29	3	3004	3	MICAL3	22	18314623	Nonsense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09		18314623	32989943	222	15695										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	105	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	3812541	22127164	29177402	223	15696										
AP1B1	162	genome.wustl.edu	37	chr22	29755894	29755894	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aagtagaggtatactagcttCttcagctccaggttgtccgt	10	9	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:29755894C>A	ENST00000405198.1	-	3	229	c.198G>T	c.(196-198)aaG>aaT	p.K66N	AP1B1_ENST00000415447.1_Missense_Mutation_p.K66N|AP1B1_ENST00000402502.1_Missense_Mutation_p.K66N|AP1B1_ENST00000432560.2_Missense_Mutation_p.K66N|AP1B1_ENST00000356015.2_Missense_Mutation_p.K66N|AP1B1_ENST00000317368.7_Missense_Mutation_p.K66N|AP1B1_ENST00000357586.2_Missense_Mutation_p.K66N			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	66					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATACTAGCTTCTTCAGCTCCA	0.512											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134	114	121					22																	29755894		2203	4300	6503	SO:0001583	missense	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.198G>T	22.37:g.29755894C>A	ENSP00000384194:p.Lys66Asn	812	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.K66N	ENST00000405198.1	37	c.198	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958224	0.73902	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.09	4.06	0.47325	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	H	0.98802	4.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90631	0.4567	10	0.87932	D	0	-29.6258	13.8799	0.63676	0.0:0.9248:0.0:0.0752	.	66;66;66;66	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	N	66	ENSP00000350199:K66N;ENSP00000348297:K66N;ENSP00000400065:K66N;ENSP00000384194:K66N;ENSP00000319361:K66N;ENSP00000386071:K66N;ENSP00000387612:K66N;ENSP00000400022:K66N	ENSP00000319361:K66N	K	-	3	2	AP1B1	28085894	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.987000	0.40687	1.265000	0.44215	0.561000	0.74099	AAG	AP1B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.512	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	C	NM_001127		29755894	-1	no_errors	ENST00000357586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29755894	C	A	29755894	3	1	105	1	0	0	0	0	1	0	0	0	731	912	32	3	2731	3	AP1B1	22	29755894	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	7628730	29755894	21548672	224	15697										
IL2RB	3560	genome.wustl.edu	37	chr22	37531391	37531391	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggcccggtgttcctgcagttGatcagcaagtacactaagat	11	10	1	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:37531391G>T	ENST00000216223.5	-	8	993	c.795C>A	c.(793-795)atC>atA	p.I265I	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	265					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCCTGCAGTTGATCAGCAAGT	0.582																																																	0													167	164	165					22																	37531391		2203	4300	6503	SO:0001819	synonymous_variant	3560			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.795C>A	22.37:g.37531391G>T			B2R765	Silent	SNP	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I265	ENST00000216223.5	37	c.795	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	G	4.512	0.095031	0.08681	.	.	ENSG00000100385	ENST00000447922	.	.	.	3.95	2.83	0.33086	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.15206	-1.0445	4	.	.	.	-1.3731	8.9026	0.35503	0.0:0.2297:0.7703:0.0	.	.	.	.	K	20	.	.	Q	-	1	0	IL2RB	35861337	0.002000	0.14202	0.005000	0.12908	0.013000	0.08279	0.776000	0.26704	2.207000	0.71202	0.542000	0.68232	CAA	IL2RB	-	NULL		0.582	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	HGNC	protein_coding	OTTHUMT00000318792.1	G			37531391	-1	no_errors	ENST00000216223	ensembl	human	known	70_37	silent	SNP	0.001	T	T	37531391	G	T	37531391	2	4	105	1	0	0	0	0	0	0	0	1	7707	1280	45	3		3	IL2RB	22	37531391	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	7775497	37531391	13773175	225	15698										
TNRC6B	23112	genome.wustl.edu	37	chr22	40677147	40677147	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ctttgcctttctccaatcaaGatgggtgccttggggatgag	12	9	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:40677147G>C	ENST00000454349.2	+	11	3647	c.3436G>C	c.(3436-3438)Gat>Cat	p.D1146H	TNRC6B_ENST00000335727.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000497559.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1146					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTCCAATCAAGATGGGTGCCT	0.512																																																	0													151	129	136					22																	40677147		692	1591	2283	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3436G>C	22.37:g.40677147G>C	ENSP00000401946:p.Asp1146His		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.D1146H	ENST00000454349.2	37	c.3436	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135810	0.37728	.	.	ENSG00000100354	ENST00000454349	T	0.14893	2.47	5.92	5.92	0.95590	.	.	.	.	.	T	0.30634	0.0771	L	0.39898	1.24	0.33886	D	0.636799	D	0.65815	0.995	P	0.58013	0.831	T	0.04579	-1.0941	9	0.28530	T	0.3	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	1146	Q9UPQ9	TNR6B_HUMAN	H	1146	ENSP00000401946:D1146H	ENSP00000401946:D1146H	D	+	1	0	TNRC6B	39007093	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.685000	0.91246	2.809000	0.96659	0.557000	0.71058	GAT	TNRC6B	-	NULL		0.512	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		G			40677147	1	no_errors	ENST00000454349	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40677147	G	C	40677147	3	2	105	1	0	0	0	0	1	0	0	0	16371	942	33	1	3599	1	TNRC6B	22	40677147	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3145756	40677147	10627419	226	15699										
HDAC10	83933	genome.wustl.edu	37	chr22	50686384	50686384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tggatgacgtcagggggcagAaccaatgtgatatccggcgt	15	8	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:50686384A>G	ENST00000216271.5	-	13	1624	c.1272T>C	c.(1270-1272)gtT>gtC	p.V424V	HDAC10_ENST00000448072.1_Silent_p.V374V|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.V404V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	424					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGGGGCAGAACCAATGTGA	0.662																																																	0													42	40	41					22																	50686384		2203	4300	6503	SO:0001819	synonymous_variant	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1272T>C	22.37:g.50686384A>G			Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.V424	ENST00000216271.5	37	c.1272	CCDS14088.1	22																																																																																			HDAC10	-	NULL		0.662	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4	A	NM_032019		50686384	-1	no_errors	ENST00000216271	ensembl	human	known	70_37	silent	SNP	0.235	G	G	50686384	A	G	50686384	2	3	105	1	0	0	0	0	0	0	0	1	7025	233	9	5		5	HDAC10	22	50686384	Silent	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	10009237	50686384	618182	227	15700										
PLXNB2	23654	genome.wustl.edu	37	chr22	50726395	50726395	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	acgacgcaccagccgcagtaGgggtcctgggagtcgcggca	16	13	0	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chr22:50726395G>C	ENST00000449103.1	-	6	1592	c.1452C>G	c.(1450-1452)ccC>ccG	p.P484P	PLXNB2_ENST00000359337.4_Silent_p.P484P|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	484					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCGCAGTAGGGGTCCTGGG	0.716																																																	0													8	12	11					22																	50726395		2003	4150	6153	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1452C>G	22.37:g.50726395G>C			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P484	ENST00000449103.1	37	c.1452	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.716	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	G	NM_012401		50726395	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	silent	SNP	0.946	C	C	50726395	G	C	50726395	2	2	105	1	0	0	0	0	0	0	0	1	12148	987	35	4		4	PLXNB2	22	50726395	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	40011	50726395	578171	228	15701										
PTCHD1	139411	genome.wustl.edu	37	chrX	23412156	23412157	+	Frame_Shift_Ins	INS	-	-	T													0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cttctttcactgctttgccaINSttttacctgtgatactgact							TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:23412156_23412157insT	ENST00000379361.4	+	3	3381_3382	c.2521_2522insT	c.(2521-2523)attfs	p.I841fs		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	841					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGCTTTGCCATTTTACCTGTG	0.416																																																	0																																										SO:0001589	frameshift_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2525dupT	X.37:g.23412160_23412160dupT	ENSP00000368666:p.Ile841fs		B4DQH0|Q0IJ60|Q6P6B8	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD	p.L842fs	ENST00000379361.4	37	c.2521_2522	CCDS35215.2	X																																																																																			PTCHD1	-	pfam_Patched		0.416	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	-	NM_173495		23412157	1	no_errors	ENST00000379361	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	23412157	-	T	23412156	7	5	105	1	0	1	1	0	0	0	0	0	12759	217	8	0	2531	0	PTCHD1	23	23412156	Frame_Shift_Ins	INS	-	TCGA-EK-A2RA-01A-11D-A18J-09		23412156	131858404	229	15702										
MAGEB6	158809	genome.wustl.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	13	12	2	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:26212431G>A	ENST00000379034.1	+	2	617	c.468G>A	c.(466-468)tcG>tcA	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																																	1	Substitution - coding silent(1)	lung(1)											56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>A	X.37:g.26212431G>A			Q6GS19|Q9H219	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S156	ENST00000379034.1	37	c.468	CCDS14217.1	X																																																																																			MAGEB6	-	NULL		0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	G	NM_173523		26212431	1	no_errors	ENST00000379034	ensembl	human	known	70_37	silent	SNP	0.000	A	A	26212431	G	A	26212431	2	1	105	1	0	0	0	0	0	0	0	1	9202	1074	38	2		2	MAGEB6	23	26212431	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	2800275	26212431	129058129	230	15703										
DMD	1756	genome.wustl.edu	37	chrX	32563427	32563427	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgtctgtgttagtgatggctGagtggtggtgacagcctgtg	17	5	1	3	rs128626232		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:32563427G>C	ENST00000357033.4	-	17	2223	c.2017C>G	c.(2017-2019)Cag>Gag	p.Q673E	DMD_ENST00000288447.4_Missense_Mutation_p.Q665E|DMD_ENST00000378677.2_Missense_Mutation_p.Q669E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	673					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTGATGGCTGAGTGGTGGTG	0.458																																																	0			GRCh37	CM950339	DMD	M	rs128626232						187	136	153					X																	32563427		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2017C>G	X.37:g.32563427G>C	ENSP00000354923:p.Gln673Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.Q673E	ENST00000357033.4	37	c.2017	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081751	0.76528	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72725	0.21;0.21;-0.68	5.64	5.64	0.86602	.	0.000000	0.32444	U	0.006088	T	0.82245	0.4995	M	0.67953	2.075	0.80722	D	1	D;P;D;P	0.60160	0.982;0.954;0.987;0.924	D;D;P;P	0.67900	0.952;0.954;0.713;0.9	T	0.79827	-0.1639	10	0.30854	T	0.27	.	18.6837	0.91556	0.0:0.0:1.0:0.0	.	665;665;673;669	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	E	665;669;673;673;550;665	ENSP00000367948:Q669E;ENSP00000354923:Q673E;ENSP00000288447:Q665E	ENSP00000288447:Q665E	Q	-	1	0	DMD	32473348	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.394000	0.90185	2.356000	0.79943	0.506000	0.49869	CAG	DMD	-	pirsf_Dystrophin/utrophin		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32563427	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32563427	G	C	32563427	3	2	105	1	0	0	0	0	1	0	0	0	4590	1299	45	1	9535	1	DMD	23	32563427	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	6350996	32563427	122707133	231	15704										
CXorf22	170063	genome.wustl.edu	37	chrX	35937975	35937975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	cagaggttccctcgccatgaGcatccaaaggggttccctcg	11	14	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:35937975G>T	ENST00000297866.5	+	1	125	c.59G>T	c.(58-60)aGc>aTc	p.S20I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	20										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTCGCCATGAGCATCCAAAGG	0.577																																																	0													59	44	49					X																	35937975		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.59G>T	X.37:g.35937975G>T	ENSP00000297866:p.Ser20Ile		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.S20I	ENST00000297866.5	37	c.59	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	g	6.885	0.532688	0.13127	.	.	ENSG00000165164	ENST00000297866	T	0.14640	2.49	0.951	0.951	0.19579	.	2.819220	0.01189	N	0.007277	T	0.09992	0.0245	N	0.22421	0.69	0.09310	N	1	B	0.33135	0.399	B	0.28709	0.093	T	0.23190	-1.0195	10	0.44086	T	0.13	-25.9675	5.503	0.16838	0.0:0.0:1.0:0.0	.	20	Q6ZTR5	CX022_HUMAN	I	20	ENSP00000297866:S20I	ENSP00000297866:S20I	S	+	2	0	CXorf22	35847896	0.005000	0.15991	0.022000	0.16811	0.096000	0.18686	0.702000	0.25631	0.181000	0.19994	0.183000	0.17082	AGC	CXorf22	-	NULL		0.577	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	G	NM_152632		35937975	1	no_errors	ENST00000297866	ensembl	human	known	70_37	missense	SNP	0.065	T	T	35937975	G	T	35937975	3	4	105	1	0	0	0	0	1	0	0	0	4107	971	34	4	61	4	CXorf22	23	35937975	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	3374548	35937975	119332585	232	15705										
PORCN	64840	genome.wustl.edu	37	chrX	48374454	48374454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tccccaccaccctagtcctcCggaagcgcctggctcggatc	9	19	0	0	rs398124616		TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:48374454C>T	ENST00000326194.6	+	12	1136	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	PORCN_ENST00000367574.4_Missense_Mutation_p.R283W|PORCN_ENST00000355961.4_Missense_Mutation_p.R360W|PORCN_ENST00000355092.3_Missense_Mutation_p.R359W|PORCN_ENST00000361988.3_Missense_Mutation_p.R354W|PORCN_ENST00000359882.4_Missense_Mutation_p.R359W|PORCN_ENST00000537758.1_Missense_Mutation_p.R365W	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	365			R -> G (in FODH). {ECO:0000269|PubMed:17546030, ECO:0000269|PubMed:19309688}.|R -> Q (in FODH). {ECO:0000269|PubMed:18325042, ECO:0000269|PubMed:19309688, ECO:0000269|PubMed:19586929, ECO:0000269|PubMed:19863546, ECO:0000269|PubMed:21472892}.		glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTAGTCCTCCGGAAGCGCCT	0.642																																																	0			GRCh37	CM073268	PORCN	M							59	54	56					X																	48374454		2203	4300	6503	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1093C>T	X.37:g.48374454C>T	ENSP00000322304:p.Arg365Trp		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R365W	ENST00000326194.6	37	c.1093	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535511	0.64972	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.53	2.49	0.30216	.	0.053129	0.64402	D	0.000001	D	0.83603	0.5290	M	0.86268	2.805	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.998;0.999;0.99;0.99	D	0.84359	0.0537	10	0.87932	D	0	-7.2856	11.4238	0.49998	0.4773:0.5227:0.0:0.0	.	359;365;283;354;360	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	W	359;365;283;360;354;365;359	ENSP00000352946:R359W;ENSP00000446401:R365W;ENSP00000356546:R283W;ENSP00000348233:R360W;ENSP00000354978:R354W;ENSP00000322304:R365W;ENSP00000347207:R359W	ENSP00000322304:R365W	R	+	1	2	PORCN	48259398	0.991000	0.36638	0.998000	0.56505	0.839000	0.47603	1.350000	0.34010	0.455000	0.26910	0.529000	0.55759	CGG	PORCN	-	pfam_MBOAT_fam		0.642	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	C	NM_022825		48374454	1	no_errors	ENST00000326194	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48374454	C	T	48374454	3	4	105	1	0	0	0	0	1	0	0	0	12282	643	23	2	1139	2	PORCN	23	48374454	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	12436479	48374454	106896106	233	15706										
AR	367	genome.wustl.edu	37	chrX	66943614	66943614	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tttccggaaatgatggcagaGatcatctctgtgcaagtgcc	11	9	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:66943614G>A	ENST00000374690.3	+	8	3218	c.2694G>A	c.(2692-2694)gaG>gaA	p.E898E	AR_ENST00000396044.3_3'UTR|AR_ENST00000396043.2_Silent_p.E366E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	897	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		I -> T (in AIS).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGATGGCAGAGATCATCTCTG	0.488									Androgen Insensitivity Syndrome																																								0													203	163	177					X																	66943614		2203	4300	6503	SO:0001819	synonymous_variant	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2694G>A	X.37:g.66943614G>A			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.E898	ENST00000374690.3	37	c.2694	CCDS14387.1	X																																																																																			AR	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.488	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66943614	1	no_errors	ENST00000374690	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66943614	G	A	66943614	2	1	105	1	0	0	0	0	0	0	0	1	836	933	33	1		1	AR	23	66943614	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	18569160	66943614	88326946	234	15707										
TEX11	56159	genome.wustl.edu	37	chrX	69774555	69774555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	aggcaactcccacactgattCcaggaagctttccagtaatg	8	12	0	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:69774555C>T	ENST00000395889.2	-	27	2436	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	TEX11_ENST00000344304.3_Missense_Mutation_p.E761K|TEX11_ENST00000374333.2_Missense_Mutation_p.E746K|TEX11_ENST00000374320.2_Missense_Mutation_p.E436K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	761					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CACACTGATTCCAGGAAGCTT	0.378																																																	0													88	76	80					X																	69774555		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2281G>A	X.37:g.69774555C>T	ENSP00000379226:p.Glu761Lys		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.E761K	ENST00000395889.2	37	c.2281	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301435	0.60195	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.46451	1.44;1.45;0.87;1.45	4.43	3.55	0.40652	.	0.140627	0.46758	D	0.000271	T	0.48040	0.1478	L	0.50333	1.59	0.29815	N	0.831283	D;D	0.56035	0.974;0.957	P;P	0.54270	0.747;0.563	T	0.48210	-0.9055	9	.	.	.	-2.6411	11.5241	0.50569	0.0:0.8225:0.1775:0.0	.	746;761	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	K	746;761;436;761	ENSP00000363453:E746K;ENSP00000379226:E761K;ENSP00000363440:E436K;ENSP00000340995:E761K	.	E	-	1	0	TEX11	69691280	1.000000	0.71417	0.486000	0.27416	0.663000	0.39108	3.489000	0.53237	0.974000	0.38366	0.600000	0.82982	GAA	TEX11	-	NULL		0.378	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	C			69774555	-1	no_errors	ENST00000344304	ensembl	human	known	70_37	missense	SNP	0.989	T	T	69774555	C	T	69774555	3	4	105	1	0	0	0	0	1	0	0	0	15804	864	30	1	561	1	TEX11	23	69774555	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2830941	69774555	85496005	235	15708										
SLC7A3	84889	genome.wustl.edu	37	chrX	70148314	70148314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tgaccatctaacctataggtGtcattgagttcagccatggc	9	10	3	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:70148314G>A	ENST00000374299.3	-	4	843	c.699C>T	c.(697-699)gaC>gaT	p.D233D	SLC7A3_ENST00000298085.4_Silent_p.D233D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	233					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCTATAGGTGTCATTGAGTT	0.493																																																	0													67	49	55					X																	70148314		2203	4299	6502	SO:0001819	synonymous_variant	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.699C>T	X.37:g.70148314G>A			D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.D233	ENST00000374299.3	37	c.699	CCDS14404.1	X																																																																																			SLC7A3	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	G	NM_032803		70148314	-1	no_errors	ENST00000298085	ensembl	human	known	70_37	silent	SNP	0.580	A	A	70148314	G	A	70148314	2	1	105	1	0	0	0	0	0	0	0	1	14728	1368	48	4		4	SLC7A3	23	70148314	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	373759	70148314	85122246	236	15709										
BRWD3	254065	genome.wustl.edu	37	chrX	79975055	79975055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ccttcattaattagtctcagGtcttgttctctctgcagctc	6	12	5	0			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:79975055G>A	ENST00000373275.4	-	18	2193	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	659					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTAGTCTCAGGTCTTGTTCTC	0.393																																																	0													177	147	157					X																	79975055		2203	4300	6503	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1977C>T	X.37:g.79975055G>A			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.D659	ENST00000373275.4	37	c.1977	CCDS14447.1	X																																																																																			BRWD3	-	NULL		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79975055	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	0.991	A	A	79975055	G	A	79975055	2	1	105	1	0	0	0	0	0	0	0	1	1529	1252	44	4		4	BRWD3	23	79975055	Silent	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	9826741	79975055	75295505	237	15710										
DRP2	1821	genome.wustl.edu	37	chrX	100503170	100503170	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	tggatgtggtagaggtcattCactgcctgactgccttatat	11	8	2	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:100503170C>T	ENST00000395209.3	+	13	1872	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	DRP2_ENST00000538510.1_Missense_Mutation_p.H449Y|DRP2_ENST00000402866.1_Missense_Mutation_p.H449Y|DRP2_ENST00000541709.1_Missense_Mutation_p.H371Y	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	449					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGAGGTCATTCACTGCCTGAC	0.502																																																	0													256	207	223					X																	100503170		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1345C>T	X.37:g.100503170C>T	ENSP00000378635:p.His449Tyr		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.H449Y	ENST00000395209.3	37	c.1345	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549430	0.65311	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.28	5.28	0.74379	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.44542	1.39	0.46774	D	0.999198	P	0.43607	0.812	P	0.48368	0.575	T	0.68416	-0.5414	10	0.59425	D	0.04	-15.9852	18.0619	0.89380	0.0:1.0:0.0:0.0	.	449	Q13474	DRP2_HUMAN	Y	449;449;371;449	ENSP00000385038:H449Y;ENSP00000378635:H449Y;ENSP00000444752:H371Y;ENSP00000441051:H449Y	ENSP00000378635:H449Y	H	+	1	0	DRP2	100389826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.835000	0.62781	2.200000	0.70718	0.513000	0.50165	CAC	DRP2	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin-related_2		0.502	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	C	NM_001939		100503170	1	no_errors	ENST00000395209	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100503170	C	T	100503170	3	4	105	1	0	0	0	0	1	0	0	0	4774	826	29	1	1387	1	DRP2	23	100503170	Missense_Mutation	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	20528115	100503170	54767390	238	15711										
GPRASP1	9737	genome.wustl.edu	37	chrX	101909234	101909234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gattctgtcttggttgctaaAacaaagtacctgtctgagga	10	7	3	1			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:101909234A>G	ENST00000361600.5	+	5	1194	c.393A>G	c.(391-393)aaA>aaG	p.K131K	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.K131K|GPRASP1_ENST00000444152.1_Silent_p.K131K|GPRASP1_ENST00000537097.1_Silent_p.K131K	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	131					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGTTGCTAAAACAAAGTACC	0.438																																																	0													108	103	105					X																	101909234		2203	4300	6503	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.393A>G	X.37:g.101909234A>G			O43168|Q96LA1	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.K131	ENST00000361600.5	37	c.393	CCDS35352.1	X																																																																																			GPRASP1	-	NULL		0.438	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	A	NM_014710		101909234	1	no_errors	ENST00000361600	ensembl	human	known	70_37	silent	SNP	0.051	G	G	101909234	A	G	101909234	2	3	105	1	0	0	0	0	0	0	0	1	6742	11	1	5		5	GPRASP1	23	101909234	Silent	SNP	A	TCGA-EK-A2RA-01A-11D-A18J-09	1406064	101909234	53361326	239	15712										
AFF2	2334	genome.wustl.edu	37	chrX	148037544	148037544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	ttaccagcagcactcccaaaGaaaaagaaagtgtggagctt	9	9	0	2			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:148037544G>C	ENST00000370460.2	+	11	2448	c.1969G>C	c.(1969-1971)Gaa>Caa	p.E657Q	AFF2_ENST00000342251.3_Missense_Mutation_p.E624Q|AFF2_ENST00000286437.5_Missense_Mutation_p.E298Q|AFF2_ENST00000370457.5_Missense_Mutation_p.E624Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	657					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCCCAAAGAAAAAGAAAG	0.473																																																	0													95	101	99					X																	148037544		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1969G>C	X.37:g.148037544G>C	ENSP00000359489:p.Glu657Gln		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E657Q	ENST00000370460.2	37	c.1969	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548888	0.65311	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.5	5.5	0.81552	.	0.118903	0.53938	D	0.000043	T	0.71995	0.3406	L	0.55481	1.735	0.52501	D	0.999952	D;D;D;D;D;D	0.58620	0.983;0.979;0.979;0.979;0.979;0.983	P;P;P;P;P;P	0.59424	0.857;0.776;0.776;0.776;0.776;0.857	T	0.67280	-0.5710	10	0.21540	T	0.41	.	18.4401	0.90664	0.0:0.0:1.0:0.0	.	298;622;624;618;647;657	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	657;624;624;298	ENSP00000359489:E657Q;ENSP00000359486:E624Q;ENSP00000345459:E624Q;ENSP00000286437:E298Q	ENSP00000286437:E298Q	E	+	1	0	AFF2	147845244	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.229000	0.65316	2.295000	0.77249	0.556000	0.70494	GAA	AFF2	-	pfam_TF_AF4/FMR2		0.473	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	G	NM_002025		148037544	1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	1.000	C	C	148037544	G	C	148037544	3	2	105	1	0	0	0	0	1	0	0	0	357	943	33	1	2066	1	AFF2	23	148037544	Missense_Mutation	SNP	G	TCGA-EK-A2RA-01A-11D-A18J-09	46128310	148037544	7233016	240	15713										
FATE1	89885	genome.wustl.edu	37	chrX	150889972	150889972	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.408333333333333	98	9.94669752136131e-34	3.87334415333488	5.60235880940727	3.01564396961393	0.676990488236713	0.845855293358322	73	gcatacgtttccattatgatCggtaagagctgagggtctgt	12	7	1	3			TCGA-EK-A2RA-01A-11D-A18J-09	TCGA-EK-A2RA-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5d134e2a-722b-4e87-93bc-5e9dae4c51c1	a36cc751-6ac0-464c-98a1-9e29735c1962	g.chrX:150889972C>T	ENST00000370350.3	+	3	425	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	114						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATTATGATCGGTAAGAGCT	0.602																																																	0													79	62	68					X																	150889972		2203	4300	6503	SO:0001630	splice_region_variant	89885			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.341+1C>T	X.37:g.150889972C>T				Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.R114C	ENST00000370350.3	37	c.340	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764402	0.49574	.	.	ENSG00000147378	ENST00000370350	T	0.49139	0.79	3.92	-1.63	0.08345	.	1.132520	0.06614	N	0.756234	T	0.28732	0.0712	N	0.19112	0.55	0.09310	N	1	B	0.30793	0.295	B	0.21546	0.035	T	0.21348	-1.0248	10	0.72032	D	0.01	-0.0367	6.2126	0.20638	0.6139:0.2842:0.0:0.1019	.	114	Q969F0	FATE1_HUMAN	C	114	ENSP00000359375:R114C	ENSP00000359375:R114C	R	+	1	0	FATE1	150640628	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	-1.017000	0.03630	-0.503000	0.06586	0.529000	0.55759	CGC	FATE1	-	pfam_FATE/Miff/Tango-11		0.602	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	C	NM_033085	Missense_Mutation	150889972	1	no_errors	ENST00000370350	ensembl	human	known	70_37	missense	SNP	0.001	T	T	150889972	C	T	150889972	5	4	105	1	0	0	0	0	0	0	1	0	5711	898	31	1	350	1	FATE1	23	150889972	Splice_Site	SNP	C	TCGA-EK-A2RA-01A-11D-A18J-09	2852428	150889972	4380588	241	15714										
ERI3	79033	genome.wustl.edu	37	chr1	44778898	44778898	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atggcttgaataatcccggtGagctgaaaggaaagagaaat	12	5	0	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:44778898G>A	ENST00000372257.2	-	5	790	c.609C>T	c.(607-609)ctC>ctT	p.L203L	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000372259.5_Silent_p.L88L|ERI3_ENST00000537474.1_Silent_p.L26L	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	203	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAATCCCGGTGAGCTGAAAGG	0.502																																																	0													77	77	77					1																	44778898		2203	4300	6503	SO:0001819	synonymous_variant	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.609C>T	1.37:g.44778898G>A			B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L203	ENST00000372257.2	37	c.609	CCDS30696.1	1																																																																																			ERI3	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.502	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI3	HGNC	protein_coding	OTTHUMT00000020243.1	G	NM_024066		44778898	-1	no_errors	ENST00000372257	ensembl	human	known	70_37	silent	SNP	0.999	A	A	44778898	G	A	44778898	2	1	106	1	0	0	0	0	0	0	0	1	5241	1277	45	1		1	ERI3	1	44778898	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		44778898	204471723	1	15715										
HECTD3	79654	genome.wustl.edu	37	chr1	45469790	45469790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	acccgcgagtcagatggctcGaagtcctcaaaccgggctgg	13	13	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:45469790G>A	ENST00000372172.4	-	18	2360	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	HECTD3_ENST00000372168.3_Silent_p.F373F|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	763	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CAGATGGCTCGAAGTCCTCAA	0.582																																																	0													98	109	105					1																	45469790		2112	4227	6339	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2289C>T	1.37:g.45469790G>A			B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.F763	ENST00000372172.4	37	c.2289	CCDS41318.1	1																																																																																			HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	G	NM_024602		45469790	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	silent	SNP	0.995	A	A	45469790	G	A	45469790	2	1	106	1	0	0	0	0	0	0	0	1	7061	1049	37	1		1	HECTD3	1	45469790	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	690892	45469790	203780831	2	15716										
SCP2	6342	genome.wustl.edu	37	chr1	53413706	53413706	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aaggctttagctgatgcacaGatcccttattcagcagtgga	10	9	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:53413706G>C	ENST00000371514.3	+	3	321	c.153G>C	c.(151-153)caG>caC	p.Q51H	SCP2_ENST00000528311.1_5'UTR|SCP2_ENST00000407246.2_Intron|SCP2_ENST00000371509.4_Missense_Mutation_p.Q51H|SCP2_ENST00000371513.5_Missense_Mutation_p.Q51H	NM_002979.4	NP_002970.2	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CTGATGCACAGATCCCTTATT	0.333																																																	0													181	172	175					1																	53413706		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000371514.3:c.153G>C	1.37:g.53413706G>C	ENSP00000360569:p.Gln51His		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.Q51H	ENST00000371514.3	37	c.153	CCDS572.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.85|12.85	2.061596|2.061596	0.36373|0.36373	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000371509;ENST00000371513|ENST00000529363	D;D;D|.	0.94417|.	-3.42;-3.42;-3.42|.	6.17|6.17	1.97|1.97	0.26223|0.26223	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.285191|.	0.38720|.	N|.	0.001586|.	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.12837|.	0.003;0.008;0.003|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.42905|.	T|.	0.14|.	-0.558|-0.558	3.7768|3.7768	0.08663|0.08663	0.1258:0.4045:0.3309:0.1387|0.1258:0.4045:0.3309:0.1387	.|.	51;51;51|.	A6NM69;P22307;Q6NXF4|.	.;NLTP_HUMAN;.|.	H|T	51|26	ENSP00000360569:Q51H;ENSP00000360564:Q51H;ENSP00000360568:Q51H|.	ENSP00000360564:Q51H|.	Q|R	+|+	3|2	2|0	SCP2|SCP2	53186294|53186294	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	0.747000|0.747000	0.26290|0.26290	0.895000|0.895000	0.36342|0.36342	-0.175000|-0.175000	0.13238|0.13238	CAG|AGA	SCP2	-	pfam_Thiolase_N,superfamily_Thiolase-like		0.333	SCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCP2	HGNC	protein_coding	OTTHUMT00000024740.2	G	NM_002979		53413706	1	no_errors	ENST00000371514	ensembl	human	known	70_37	missense	SNP	0.997	C	C	53413706	G	C	53413706	3	2	106	1	0	0	0	0	1	0	0	0	13964	933	33	1	163	1	SCP2	1	53413706	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	7943916	53413706	195836915	3	15717										
LPPR5	163404	genome.wustl.edu	37	chr1	99422185	99422185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	caagaaatcggacagttcggCgcaccagcgggtttatatag	12	9	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:99422185C>T	ENST00000263177.4	-	2	571	c.350G>A	c.(349-351)cGc>cAc	p.R117H	LPPR5_ENST00000370188.3_Missense_Mutation_p.R117H	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		117						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GACAGTTCGGCGCACCAGCGG	0.363																																																	0													64	68	66					1																	99422185		2202	4300	6502	SO:0001583	missense	163404																														ENST00000263177.4:c.350G>A	1.37:g.99422185C>T	ENSP00000263177:p.Arg117His		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R117H	ENST00000263177.4	37	c.350	CCDS30778.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866165	0.91511	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.52057	0.68;0.68	4.74	4.74	0.60224	.	0.058957	0.64402	D	0.000003	T	0.66752	0.2821	M	0.83774	2.66	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.73313	-0.4022	10	0.87932	D	0	.	17.0811	0.86599	0.0:1.0:0.0:0.0	.	117;117	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	H	117	ENSP00000359207:R117H;ENSP00000263177:R117H	ENSP00000263177:R117H	R	-	2	0	AL161744.1	99194773	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.234000	0.78134	2.342000	0.79632	0.591000	0.81541	CGC	LPPR5	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.363	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	Uniprot_genename	protein_coding	OTTHUMT00000393221.1	C			99422185	-1	no_errors	ENST00000263177	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99422185	C	T	99422185	3	4	106	1	0	0	0	0	1	0	0	0	8951	768	27	2	635	2	LPPR5	1	99422185	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	46008479	99422185	149828436	4	15718										
FCRL2	79368	genome.wustl.edu	37	chr1	157737271	157737271	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gcctgggccccaggagacctGagggtgaggacagggcgaga	19	10	0	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:157737271G>A	ENST00000361516.3	-	6	960	c.912C>T	c.(910-912)ctC>ctT	p.L304L	FCRL2_ENST00000392274.3_Silent_p.L304L|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.L51L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	304	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.L304L(1)|p.L51L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGAGACCTGAGGGTGAGGA	0.547																																																	2	Substitution - coding silent(2)	cervix(2)											50	53	52					1																	157737271		2203	4300	6503	SO:0001819	synonymous_variant	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.912C>T	1.37:g.157737271G>A			A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L304	ENST00000361516.3	37	c.912	CCDS1168.1	1																																																																																			FCRL2	-	pfscan_Ig-like		0.547	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	G	NM_030764		157737271	-1	no_errors	ENST00000361516	ensembl	human	known	70_37	silent	SNP	0.444	A	A	157737271	G	A	157737271	2	1	106	1	0	0	0	0	0	0	0	1	5813	1277	45	1		1	FCRL2	1	157737271	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	58315086	157737271	91513350	5	15719										
OR10J1	26476	genome.wustl.edu	37	chr1	159410019	159410019	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctgcgtatccaacttgtcctGggggcctgcagcattgggct	13	12	0	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:159410019G>T	ENST00000423932.3	+	1	508	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACTTGTCCTGGGGGCCTGCA	0.498																																																	0													139	132	134					1																	159410019		2203	4300	6503	SO:0001819	synonymous_variant	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.471G>T	1.37:g.159410019G>T			Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L157	ENST00000423932.3	37	c.471	CCDS1185.1	1																																																																																			OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	G	NM_012351		159410019	1	no_errors	ENST00000423932	ensembl	human	known	70_37	silent	SNP	0.011	T	T	159410019	G	T	159410019	2	4	106	1	0	0	0	0	0	0	0	1	10934	1335	47	4		4	OR10J1	1	159410019	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	1672748	159410019	89840602	6	15720										
HMCN1	83872	genome.wustl.edu	37	chr1	185950148	185950148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aaggaacctatatttgtgaaGctgaaaaccagtttggaaag	10	5	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:185950148G>T	ENST00000271588.4	+	17	2834	c.2605G>T	c.(2605-2607)Gct>Tct	p.A869S	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.A869S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	869	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTTGTGAAGCTGAAAACCA	0.383																																																	0													159	165	163					1																	185950148		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2605G>T	1.37:g.185950148G>T	ENSP00000271588:p.Ala869Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.A869S	ENST00000271588.4	37	c.2605	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.430703	0.96150	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.76578	-1.03;-1.03	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.80764	0.963;0.994	D	0.90862	0.4739	10	0.72032	D	0.01	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	253;869	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	S	869	ENSP00000271588:A869S;ENSP00000356462:A869S	ENSP00000271588:A869S	A	+	1	0	HMCN1	184216771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.756000	0.94617	0.655000	0.94253	GCT	HMCN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		185950148	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	T	T	185950148	G	T	185950148	3	4	106	1	0	0	0	0	1	0	0	0	7240	971	34	4	2671	4	HMCN1	1	185950148	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	26540129	185950148	63300473	7	15721										
H3F3A	3020	genome.wustl.edu	37	chr1	226252066	226252066	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctgtaccatggctcgtacaaAgcagactgcccgcaaatcga	9	13	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:226252066A>T	ENST00000366813.1	+	1	389	c.14A>T	c.(13-15)aAg>aTg	p.K5M	RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366815.3_Missense_Mutation_p.K5M|H3F3A_ENST00000366816.1_Missense_Mutation_p.K5M|H3F3A_ENST00000366814.3_Missense_Mutation_p.K5M			P84243	H33_HUMAN	H3 histone, family 3A	5					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GCTCGTACAAAGCAGACTGCC	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q42.12	3020	"H3 histone, family 3A"		O	0													31	33	32					1																	226252066		2202	4300	6502	SO:0001583	missense	3020			BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.14A>T	1.37:g.226252066A>T	ENSP00000355778:p.Lys5Met	2311	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.K5M	ENST00000366813.1	37	c.14	CCDS1550.1	1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049650	0.36181	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.217	D;B	0.83275	0.996;0.116	T	0.73490	-0.3966	9	0.87932	D	0	.	13.4389	0.61101	1.0:0.0:0.0:0.0	.	5;5	B4DEB1;P84243	.;H33_HUMAN	M	5	ENSP00000355781:K5M;ENSP00000355780:K5M;ENSP00000355779:K5M;ENSP00000355778:K5M	ENSP00000355778:K5M	K	+	2	0	H3F3A	224318689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.024000	0.93689	1.712000	0.51347	0.533000	0.62120	AAG	H3F3A	-	superfamily_Histone-fold,prints_Histone_H3		0.488	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3A	HGNC	protein_coding	OTTHUMT00000091324.1	A	NM_002107		226252066	1	no_errors	ENST00000366813	ensembl	human	known	70_37	missense	SNP	1.000	T	T	226252066	A	T	226252066	3	4	106	1	0	0	0	0	1	0	0	0	6953	72	3	5	16	5	H3F3A	1	226252066	Missense_Mutation	SNP	A	TCGA-EK-A2RB-01A-11D-A18J-09	40301918	226252066	22998555	8	15722										
OBSCN	84033	genome.wustl.edu	37	chr1	228468419	228468419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cgcgggggctcgtggtgcatGacgtgagccctgaagacgcc	17	12	0	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:228468419G>A	ENST00000422127.1	+	30	8163	c.8119G>A	c.(8119-8121)Gac>Aac	p.D2707N	OBSCN_ENST00000359599.6_Missense_Mutation_p.D1554N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D3136N|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.D2707N|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2707	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGTGCATGACGTGAGCCC	0.692																																																	0													30	37	35					1																	228468419		2102	4217	6319	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8119G>A	1.37:g.228468419G>A	ENSP00000409493:p.Asp2707Asn		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D2707N	ENST00000422127.1	37	c.8119	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332077	0.41297	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.04015	3.73;3.73;3.73	5.39	1.37	0.22104	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.277928	0.32802	N	0.005633	T	0.09512	0.0234	L	0.35414	1.06	0.80722	D	1	B;B;D	0.89917	0.125;0.102;1.0	B;B;D	0.91635	0.073;0.043;0.999	T	0.30880	-0.9963	10	0.19590	T	0.45	.	9.3369	0.38056	0.2907:0.0:0.7093:0.0	.	2707;2707;2707	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	N	2707;2707;1554;406;113	ENSP00000284548:D2707N;ENSP00000409493:D2707N;ENSP00000352613:D1554N	ENSP00000284548:D2707N	D	+	1	0	OBSCN	226535042	0.978000	0.34361	0.302000	0.25058	0.121000	0.20230	2.355000	0.44107	0.244000	0.21351	0.457000	0.33378	GAC	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228468419	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.994	A	A	228468419	G	A	228468419	3	1	106	1	0	0	0	0	1	0	0	0	10836	1290	45	1	8233	1	OBSCN	1	228468419	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	2216353	228468419	20782202	9	15723										
TRIM67	440730	genome.wustl.edu	37	chr1	231298820	231298820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ccttgcgctcgcaccatcgcGgtgcagaccccggacggtga	13	16	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:231298820G>A	ENST00000366653.5	+	1	105	c.105G>A	c.(103-105)gcG>gcA	p.A35A	TRIM67_ENST00000444294.3_Silent_p.A35A|TRIM67_ENST00000449018.3_Silent_p.A35A|TRIM67_ENST00000366652.2_Silent_p.A35A			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	35					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCACCATCGCGGTGCAGACCC	0.682																																																	0													26	27	27					1																	231298820		2039	4197	6236	SO:0001819	synonymous_variant	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.105G>A	1.37:g.231298820G>A			Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A35	ENST00000366653.5	37	c.105	CCDS44333.1	1																																																																																			TRIM67	-	smart_Znf_RING		0.682	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231298820	1	no_errors	ENST00000366652	ensembl	human	known	70_37	silent	SNP	0.955	A	A	231298820	G	A	231298820	2	1	106	1	0	0	0	0	0	0	0	1	16571	1103	39	2		2	TRIM67	1	231298820	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	2830401	231298820	17951801	10	15724										
SMEK2	57223	genome.wustl.edu	37	chr2	55844417	55844417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tcactcgccgccgcgtatccGacatggtggctgctgtctcc	11	16	2	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:55844417G>A	ENST00000345102.5	-	1	306	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SMEK2_ENST00000407823.3_Missense_Mutation_p.S2L|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Missense_Mutation_p.S2L|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	2	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCGCGTATCCGACATGGTGGC	0.632																																																	0													50	40	43					2																	55844417		2203	4300	6503	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.5C>T	2.37:g.55844417G>A	ENSP00000339769:p.Ser2Leu		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.S2L	ENST00000345102.5	37	c.5	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.876252	0.97055	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.46451	0.87;0.87;0.87	5.06	5.06	0.68205	.	0.129339	0.56097	D	0.000037	T	0.33818	0.0876	L	0.29908	0.895	0.80722	D	1	P;P;P	0.46912	0.886;0.776;0.886	B;B;B	0.39217	0.294;0.154;0.294	T	0.14896	-1.0456	10	0.41790	T	0.15	-3.312	18.6177	0.91308	0.0:0.0:1.0:0.0	.	2;2;2	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	L	2	ENSP00000272313:S2L;ENSP00000385912:S2L;ENSP00000339769:S2L	ENSP00000272313:S2L	S	-	2	0	SMEK2	55697921	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.906000	0.75719	2.636000	0.89361	0.561000	0.74099	TCG	SMEK2	-	NULL		0.632	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	G	NM_020463		55844417	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55844417	G	A	55844417	3	1	106	1	0	0	0	0	1	0	0	0	14824	1059	37	1	2612	1	SMEK2	2	55844417	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		55844417	187354956	11	15725										
NEB	4703	genome.wustl.edu	37	chr2	152524371	152524371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aacaattgggatggcatctgGtctcaaatcatagcccttgg	10	9	3	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:152524371G>T	ENST00000172853.10	-	40	4813	c.4666C>A	c.(4666-4668)Cca>Aca	p.P1556T	NEB_ENST00000397345.3_Missense_Mutation_p.P1556T|NEB_ENST00000604864.1_Missense_Mutation_p.P1556T|NEB_ENST00000427231.2_Missense_Mutation_p.P1556T|NEB_ENST00000603639.1_Missense_Mutation_p.P1556T|NEB_ENST00000409198.1_Missense_Mutation_p.P1556T			P20929	NEBU_HUMAN	nebulin	1556					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGCATCTGGTCTCAAATCA	0.333																																																	0													115	116	115					2																	152524371		1832	4081	5913	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4666C>A	2.37:g.152524371G>T	ENSP00000172853:p.Pro1556Thr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P1556T	ENST00000172853.10	37	c.4666		2	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303856	0.10678	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05199	3.48;3.53;3.53;3.48	5.96	-6.64	0.01801	.	0.776477	0.12785	N	0.439319	T	0.03263	0.0095	L	0.39898	1.24	0.45076	D	0.998096	B	0.02656	0.0	B	0.08055	0.003	T	0.44605	-0.9317	10	0.10636	T	0.68	.	2.9799	0.05949	0.1628:0.1478:0.1625:0.5268	.	1556	P20929	NEBU_HUMAN	T	1556	ENSP00000386259:P1556T;ENSP00000380505:P1556T;ENSP00000416578:P1556T;ENSP00000172853:P1556T	ENSP00000172853:P1556T	P	-	1	0	NEB	152232617	0.000000	0.05858	0.904000	0.35570	0.999000	0.98932	-0.995000	0.03712	-1.092000	0.03062	0.650000	0.86243	CCA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152524371	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.122	T	T	152524371	G	T	152524371	3	4	106	1	0	0	0	0	1	0	0	0	10326	1261	44	4	21592	4	NEB	2	152524371	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	96679954	152524371	90675002	12	15726										
TANC1	85461	genome.wustl.edu	37	chr2	160031609	160031609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aaaggagccccaactacagaGcatgctgagcctccgatcct	9	14	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:160031609G>A	ENST00000263635.6	+	12	1886	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	TANC1_ENST00000454300.1_Missense_Mutation_p.S444N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	550					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACTACAGAGCATGCTGAGC	0.582																																																	0													84	87	86					2																	160031609		1985	4159	6144	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1649G>A	2.37:g.160031609G>A	ENSP00000263635:p.Ser550Asn		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S550N	ENST00000263635.6	37	c.1649	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727384	0.69074	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.71579	-0.56;-0.58	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	M	0.69358	2.11	0.58432	D	0.999998	D;D;B	0.67145	0.993;0.996;0.093	P;P;B	0.61477	0.777;0.889;0.074	T	0.81006	-0.1128	10	0.46703	T	0.11	.	20.142	0.98061	0.0:0.0:1.0:0.0	.	542;444;550	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	N	444;550	ENSP00000396339:S444N;ENSP00000263635:S550N	ENSP00000263635:S550N	S	+	2	0	TANC1	159739855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.660000	0.68018	2.754000	0.94517	0.655000	0.94253	AGC	TANC1	-	NULL		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160031609	1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160031609	G	A	160031609	3	1	106	1	0	0	0	0	1	0	0	0	15574	971	34	4	1687	4	TANC1	2	160031609	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	7507238	160031609	83167764	13	15727										
DPP4	1803	genome.wustl.edu	37	chr2	162851875	162851875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tttcagctctgctcatgactGttgaattctggaattgggag	11	7	4	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:162851875G>T	ENST00000360534.3	-	24	2620	c.2060C>A	c.(2059-2061)aCa>aAa	p.T687K	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	687					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GCTCATGACTGTTGAATTCTG	0.328																																																	0													112	112	112					2																	162851875		2203	4300	6503	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2060C>A	2.37:g.162851875G>T	ENSP00000353731:p.Thr687Lys		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T687K	ENST00000360534.3	37	c.2060	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006945	0.74932	.	.	ENSG00000197635	ENST00000360534	T	0.27402	1.67	5.74	5.74	0.90152	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.048752	0.85682	D	0.000000	T	0.50752	0.1634	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37686	-0.9695	10	0.45353	T	0.12	-16.5264	19.9248	0.97099	0.0:0.0:1.0:0.0	.	687	P27487	DPP4_HUMAN	K	687	ENSP00000353731:T687K	ENSP00000353731:T687K	T	-	2	0	DPP4	162560121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.194000	0.94962	2.683000	0.91414	0.655000	0.94253	ACA	DPP4	-	pfam_Peptidase_S9		0.328	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	G			162851875	-1	no_errors	ENST00000360534	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162851875	G	T	162851875	3	4	106	1	0	0	0	0	1	0	0	0	4739	1377	48	4	252	4	DPP4	2	162851875	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	2820266	162851875	80347498	14	15728										
HOXD11	3237	genome.wustl.edu	37	chr2	176972090	176972090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cacgccgcggagtcatgaacGactttgacgagtgcggccag	14	12	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:176972090G>A	ENST00000249504.5	+	1	77	c.7G>A	c.(7-9)Gac>Aac	p.D3N	AC009336.1_ENST00000401374.2_RNA|HOXD11_ENST00000498438.1_Intron	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	3					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTCATGAACGACTTTGACGA	0.642			T	NUP98	AML																																			Dom	yes		2	2q31-q32	3237	homeo box D11		L	0													16	14	15					2																	176972090		2185	4262	6447	SO:0001583	missense	3237				CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"Homeoboxes / ANTP class : HOXL subclass"	5134	protein-coding gene	gene with protein product		142986	"homeo box D11"	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.7G>A	2.37:g.176972090G>A	ENSP00000249504:p.Asp3Asn		A6NIS4|Q9NS02	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D3N	ENST00000249504.5	37	c.7	CCDS2265.1	2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326064	0.60743	.	.	ENSG00000128713	ENST00000249504	D	0.94417	-3.42	3.75	3.75	0.43078	.	0.234278	0.21581	U	0.072245	D	0.90998	0.7169	L	0.52573	1.65	0.48135	D	0.999592	B	0.33379	0.41	B	0.20955	0.032	D	0.91235	0.5017	10	0.54805	T	0.06	.	15.3336	0.74234	0.0:0.0:1.0:0.0	.	3	P31277	HXD11_HUMAN	N	3	ENSP00000249504:D3N	ENSP00000249504:D3N	D	+	1	0	HOXD11	176680336	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.742000	0.91588	1.922000	0.55676	0.407000	0.27541	GAC	HOXD11	-	NULL		0.642	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD11	HGNC	protein_coding	OTTHUMT00000359250.2	G			176972090	1	no_errors	ENST00000249504	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176972090	G	A	176972090	3	1	106	1	0	0	0	0	1	0	0	0	7340	1058	37	1	9	1	HOXD11	2	176972090	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	14120215	176972090	66227283	15	15729										
TTN	7273	genome.wustl.edu	37	chr2	179452396	179452396	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tccttttctgaccacattatCaatgccaacttttcgccaag	4	13	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:179452396C>T	ENST00000591111.1	-	256	58941	c.58717G>A	c.(58717-58719)Gat>Aat	p.D19573N	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12149N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12341N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D21214N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12274N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18646N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19573	Ig-like 109.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACATTATCAATGCCAACT	0.458																																																	0													78	75	76					2																	179452396		1948	4152	6100	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58717G>A	2.37:g.179452396C>T	ENSP00000465570:p.Asp19573Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D18646N	ENST00000591111.1	37	c.55936		2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139631	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78799	0.4340	L	0.43598	1.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78881	-0.2029	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12149;12274;12341;19573	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	18646;12149;12341;12274;12147	ENSP00000343764:D18646N;ENSP00000434586:D12149N;ENSP00000340554:D12341N;ENSP00000352154:D12274N	ENSP00000340554:D12341N	D	-	1	0	TTN	179160642	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179452396	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179452396	C	T	179452396	3	4	106	1	0	0	0	0	1	0	0	0	16766	826	29	1	44567	1	TTN	2	179452396	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	2480306	179452396	63746977	16	15730										
CWC22	57703	genome.wustl.edu	37	chr2	180838465	180838465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gataattgccactaatgctgCataaacatgggtgaagattg	10	6	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:180838465C>T	ENST00000410053.3	-	7	945	c.646G>A	c.(646-648)Gca>Aca	p.A216T	CWC22_ENST00000295749.6_Missense_Mutation_p.A216T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	216	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTAATGCTGCATAAACATGG	0.348																																																	0													69	64	66					2																	180838465		1838	4097	5935	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.646G>A	2.37:g.180838465C>T	ENSP00000387006:p.Ala216Thr		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.A216T	ENST00000410053.3	37	c.646	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022849	0.75275	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.32988	1.43;1.43;1.43	5.52	4.59	0.56863	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.212364	0.49916	D	0.000139	T	0.52354	0.1729	M	0.90198	3.095	0.51767	D	0.999931	P	0.46020	0.871	P	0.51550	0.673	T	0.62124	-0.6920	10	0.87932	D	0	-10.7412	12.3049	0.54895	0.2908:0.7092:0.0:0.0	.	216	Q9HCG8	CWC22_HUMAN	T	216	ENSP00000387006:A216T;ENSP00000295749:A216T;ENSP00000384159:A216T	ENSP00000295749:A216T	A	-	1	0	CWC22	180546710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.655000	0.37345	2.589000	0.87451	0.650000	0.86243	GCA	CWC22	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.348	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	C	NM_020943		180838465	-1	no_errors	ENST00000295749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	180838465	C	T	180838465	3	4	106	1	0	0	0	0	1	0	0	0	4073	710	25	4	2136	4	CWC22	2	180838465	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	1386069	180838465	62360908	17	15731										
MAP2	4133	genome.wustl.edu	37	chr2	210557519	210557519	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	agacaactaaaacttaccctGataaaaaggacatgcaaggc	7	9	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:210557519G>A	ENST00000360351.4	+	7	1131	c.625G>A	c.(625-627)Gat>Aat	p.D209N	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D205N|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	209					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AACTTACCCTGATAAAAAGGA	0.453																																					Pancreas(27;423 979 28787 29963)												0													86	85	86					2																	210557519		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.625G>A	2.37:g.210557519G>A	ENSP00000353508:p.Asp209Asn		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.D209N	ENST00000360351.4	37	c.625	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597838	0.66332	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.32023	3.15;1.47;3.15	5.98	4.09	0.47781	.	0.370981	0.26032	N	0.026747	T	0.36110	0.0955	M	0.62723	1.935	0.09310	N	1	P;P	0.45902	0.868;0.792	P;B	0.46758	0.526;0.326	T	0.25398	-1.0133	10	0.62326	D	0.03	-5.7395	9.4269	0.38586	0.0738:0.2477:0.6785:0.0	.	205;209	P11137-3;P11137	.;MAP2_HUMAN	N	209;291;205	ENSP00000353508:D209N;ENSP00000409969:D291N;ENSP00000392164:D205N	ENSP00000353508:D209N	D	+	1	0	MAP2	210265764	0.434000	0.25570	0.012000	0.15200	0.143000	0.21401	1.949000	0.40313	1.542000	0.49330	0.655000	0.94253	GAT	MAP2	-	NULL		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210557519	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.006	A	A	210557519	G	A	210557519	3	1	106	1	0	0	0	0	1	0	0	0	9258	1290	45	1	639	1	MAP2	2	210557519	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	29719054	210557519	32641854	18	15732										
SNED1	25992	genome.wustl.edu	37	chr2	241991561	241991561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cccccaggcttctccgggcgGcactgcgagataggtaaggt	14	13	1	1	rs369648878		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:241991561G>A	ENST00000310397.8	+	14	1956	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	SNED1_ENST00000342631.6_Silent_p.R652R|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Silent_p.R652R|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Silent_p.R652R	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	652	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTCCGGGCGGCACTGCGAGA	0.632																																																	0													48	52	51					2																	241991561		2005	4171	6176	SO:0001819	synonymous_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1956G>A	2.37:g.241991561G>A			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.R652	ENST00000310397.8	37	c.1956	CCDS46562.1	2																																																																																			SNED1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		241991561	1	no_errors	ENST00000310397	ensembl	human	known	70_37	silent	SNP	1.000	A	A	241991561	G	A	241991561	2	1	106	1	0	0	0	0	0	0	0	1	14875	1190	42	4		4	SNED1	2	241991561	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	31434042	241991561	1207812	19	15733										
ARPP21	10777	genome.wustl.edu	37	chr3	35732402	35732402	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atgtcatcgtatcagaggatGcttgtccatcgagtggcagc	12	9	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:35732402G>C	ENST00000187397.4	+	9	1047	c.591G>C	c.(589-591)atG>atC	p.M197I	ARPP21_ENST00000417925.1_Missense_Mutation_p.M197I|ARPP21_ENST00000337271.5_Missense_Mutation_p.M197I|ARPP21_ENST00000458225.1_Missense_Mutation_p.M197I|ARPP21_ENST00000444190.1_Missense_Mutation_p.M197I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	197	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCAGAGGATGCTTGTCCATC	0.368																																																	0													121	110	114					3																	35732402		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.591G>C	3.37:g.35732402G>C	ENSP00000187397:p.Met197Ile		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.M197I	ENST00000187397.4	37	c.591	CCDS2661.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.943588|3.943588	0.73672|0.73672	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000425289|ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.|T;T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91;0.91	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Single-stranded nucleic acid binding R3H (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.52170	.|0.951;0.92;0.951	.|D;D;D	.|0.72625	.|0.973;0.978;0.973	T|T	0.74982|0.74982	-0.3478|-0.3478	5|10	.|0.87932	.|D	.|0	-19.6123|-19.6123	20.1421|20.1421	0.98061|0.98061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|197;197;197	.|Q9UBL0-3;Q9UBL0;Q9UBL0-4	.|.;ARP21_HUMAN;.	P|I	39|197	.|ENSP00000414351:M197I;ENSP00000337792:M197I;ENSP00000405276:M197I;ENSP00000187397:M197I;ENSP00000412326:M197I	.|ENSP00000187397:M197I	A|M	+|+	1|3	0|0	ARPP21|ARPP21	35707406|35707406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.327000|0.327000	0.28475|0.28475	9.715000|9.715000	0.98748|0.98748	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCT|ATG	ARPP21	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.368	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35732402	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35732402	G	C	35732402	3	2	106	1	0	0	0	0	1	0	0	0	979	1319	46	4	630	4	ARPP21	3	35732402	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		35732402	162290028	20	15734										
BAP1	8314	genome.wustl.edu	37	chr3	52439883	52439883	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctcaggcagctgtgactcttGagacttgtgggtctgaatca	12	9	4	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:52439883G>A	ENST00000460680.1	-	10	1300	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q259*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	188					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGTGACTCTTGAGACTTGTGG	0.557			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													70	69	69					3																	52439883		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.829C>T	3.37:g.52439883G>A	ENSP00000417132:p.Gln277*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.Q277*	ENST00000460680.1	37	c.829	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790313	0.90367	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.166976	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.9603	14.293	0.66292	0.0:0.0:0.8514:0.1486	.	.	.	.	X	277;259	.	ENSP00000296288:Q259X	Q	-	1	0	BAP1	52414923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.663000	0.90544	0.561000	0.74099	CAA	BAP1	-	NULL		0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52439883	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52439883	G	A	52439883	4	1	106	1	0	0	0	0	0	1	0	0	1312	1299	45	1	1392	1	BAP1	3	52439883	Nonsense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	16707481	52439883	145582547	21	15735										
CLDN16	10686	genome.wustl.edu	37	chr3	190106178	190106178	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tttttctctgctgggtttttGattgtggccacctggactga	11	8	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:190106178G>T	ENST00000264734.2	+	1	518	c.270G>T	c.(268-270)ttG>ttT	p.L90F	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.L90F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	90					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGGGTTTTTGATTGTGGCCA	0.483																																																	0													301	275	284					3																	190106178		2203	4300	6503	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.270G>T	3.37:g.190106178G>T	ENSP00000264734:p.Leu90Phe			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.L90F	ENST00000264734.2	37	c.270	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684497	0.68157	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.95853	-3.19;-3.83	5.91	5.03	0.67393	.	0.000000	0.56097	D	0.000040	D	0.97201	0.9085	M	0.80746	2.51	0.43613	D	0.995988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96744	0.9549	10	0.72032	D	0.01	-17.152	10.0004	0.41924	0.0892:0.0:0.9108:0.0	.	90;90	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	F	90	ENSP00000264734:L90F;ENSP00000414136:L90F	ENSP00000264734:L90F	L	+	3	2	CLDN16	191588872	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.215000	0.42862	2.805000	0.96524	0.460000	0.39030	TTG	CLDN16	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16		0.483	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	G	NM_006580		190106178	1	no_errors	ENST00000264734	ensembl	human	known	70_37	missense	SNP	1.000	T	T	190106178	G	T	190106178	3	4	106	1	0	0	0	0	1	0	0	0	3482	1281	45	3	272	3	CLDN16	3	190106178	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	137666295	190106178	7916252	22	15736										
SH3TC1	54436	genome.wustl.edu	37	chr4	8218729	8218729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ccaccatgtgagagtgatgaCgggtccccgggatgcaggaa	15	10	0	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:8218729C>T	ENST00000245105.3	+	7	741	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SH3TC1_ENST00000539824.1_Missense_Mutation_p.T149M	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	225										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGAGTGATGACGGGTCCCCGG	0.657																																					NSCLC(145;2298 2623 35616 37297)												0													101	91	95					4																	8218729		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.674C>T	4.37:g.8218729C>T	ENSP00000245105:p.Thr225Met		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.T225M	ENST00000245105.3	37	c.674	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789777	0.16258	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.76060	-0.99;-0.98;0.53	4.05	-2.3	0.06785	.	1.483870	0.04561	N	0.391608	T	0.54532	0.1864	N	0.24115	0.695	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.33085	-0.9882	10	0.35671	T	0.21	-0.2836	0.787	0.01050	0.3646:0.2797:0.1203:0.2355	.	225	Q8TE82	S3TC1_HUMAN	M	225;149;54;34	ENSP00000245105:T225M;ENSP00000441045:T149M;ENSP00000426035:T34M	ENSP00000245105:T225M	T	+	2	0	SH3TC1	8269629	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.431000	0.06965	-0.106000	0.12110	0.462000	0.41574	ACG	SH3TC1	-	NULL		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8218729	1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	0.000	T	T	8218729	C	T	8218729	3	4	106	1	0	0	0	0	1	0	0	0	14291	536	19	2	696	2	SH3TC1	4	8218729	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		8218729	182935547	23	15737										
C4orf36	132989	genome.wustl.edu	37	chr4	87809368	87809368	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tcttccaagaaaggcaacttGatattggctaggtttgtgga	11	6	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:87809368G>T	ENST00000473559.1	-	6	789	c.126C>A	c.(124-126)atC>atA	p.I42I	C4orf36_ENST00000503001.1_5'UTR|C4orf36_ENST00000295898.3_Silent_p.I42I			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	42										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AAGGCAACTTGATATTGGCTA	0.398																																																	0													102	98	99					4																	87809368		2203	4300	6503	SO:0001819	synonymous_variant	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.126C>A	4.37:g.87809368G>T				Silent	SNP	NULL	p.I42	ENST00000473559.1	37	c.126	CCDS3615.1	4																																																																																			C4orf36	-	NULL		0.398	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	G	NM_144645		87809368	-1	no_errors	ENST00000295898	ensembl	human	known	70_37	silent	SNP	0.001	T	T	87809368	G	T	87809368	2	4	106	1	0	0	0	0	0	0	0	1	2271	1280	45	3		3	C4orf36	4	87809368	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	79590639	87809368	103344908	24	15738										
TMEM144	55314	genome.wustl.edu	37	chr4	159140497	159140497	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	attggatgcagaagaagtatCaaatccgctgctaaattaca	8	7	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:159140497C>G	ENST00000296529.6	+	6	888	c.368C>G	c.(367-369)tCa>tGa	p.S123*	TMEM144_ENST00000514558.1_Nonsense_Mutation_p.S123*	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	123						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GAAGAAGTATCAAATCCGCTG	0.368																																																	0													150	150	150					4																	159140497		2203	4300	6503	SO:0001587	stop_gained	55314			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.368C>G	4.37:g.159140497C>G	ENSP00000296529:p.Ser123*		D3DP24|Q49A05|Q9NUT3	Nonsense_Mutation	SNP	pfam_DUF1632_TMEM144,pfam_Sugar_transport	p.S123*	ENST00000296529.6	37	c.368	CCDS3799.1	4	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830510	0.91036	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558	.	.	.	5.77	5.77	0.91146	.	0.673386	0.14934	N	0.289921	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-27.2937	19.1176	0.93348	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000296529:S123X	S	+	2	0	TMEM144	159359947	0.261000	0.24063	0.021000	0.16686	0.343000	0.28985	4.642000	0.61383	2.884000	0.98904	0.655000	0.94253	TCA	TMEM144	-	pfam_DUF1632_TMEM144		0.368	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1	C	NM_018342		159140497	1	no_errors	ENST00000296529	ensembl	human	known	70_37	nonsense	SNP	0.756	G	G	159140497	C	G	159140497	4	3	106	1	0	0	0	0	0	1	0	0	16088	838	29	1	382	1	TMEM144	4	159140497	Nonsense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	71331129	159140497	32013779	25	15739										
FSTL5	56884	genome.wustl.edu	37	chr4	162307436	162307436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tgtggggaaactgctccggtGctgtcaggtttgcagccaat	14	9	1	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:162307436G>A	ENST00000306100.5	-	16	2443	c.2007C>T	c.(2005-2007)agC>agT	p.S669S	FSTL5_ENST00000427802.2_Silent_p.S659S|FSTL5_ENST00000536695.1_Silent_p.S668S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.S668S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	669						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S669R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGCTCCGGTGCTGTCAGGTT	0.478																																																	1	Substitution - Missense(1)	lung(1)											101	92	95					4																	162307436		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2007C>T	4.37:g.162307436G>A			E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.S669	ENST00000306100.5	37	c.2007	CCDS3802.1	4																																																																																			FSTL5	-	NULL		0.478	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	G	NM_020116		162307436	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	silent	SNP	1.000	A	A	162307436	G	A	162307436	2	1	106	1	0	0	0	0	0	0	0	1	6098	1310	46	4		4	FSTL5	4	162307436	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	3166939	162307436	28846840	26	15740										
KIAA0947	23379	genome.wustl.edu	37	chr5	5465100	5465100	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctgaagttgcaacaacaaatGaggaaagaagttgttctagt	10	5	1	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:5465100G>A	ENST00000296564.7	+	13	5875	c.5653G>A	c.(5653-5655)Gag>Aag	p.E1885K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1885					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACAACAAATGAGGAAAGAAG	0.493																																																	0													71	70	70					5																	5465100		1897	4112	6009	SO:0001583	missense	23379																														ENST00000296564.7:c.5653G>A	5.37:g.5465100G>A	ENSP00000296564:p.Glu1885Lys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1885K	ENST00000296564.7	37	c.5653	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774885	0.31411	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	5.6	4.73	0.59995	.	.	.	.	.	T	0.09818	0.0241	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.30995	-0.9959	9	0.17832	T	0.49	-0.8532	12.146	0.54024	0.083:0.0:0.917:0.0	.	1885	Q9Y2F5	K0947_HUMAN	K	1885	ENSP00000296564:E1885K	ENSP00000296564:E1885K	E	+	1	0	KIAA0947	5518100	0.000000	0.05858	0.003000	0.11579	0.154000	0.21943	0.498000	0.22530	1.379000	0.46325	0.467000	0.42956	GAG	KIAA0947	-	NULL		0.493	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5465100	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.005	A	A	5465100	G	A	5465100	3	1	106	1	0	0	0	0	1	0	0	0	8222	1291	45	1	5703	1	KIAA0947	5	5465100	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		5465100	175450160	27	15741										
CRHBP	1393	genome.wustl.edu	37	chr5	76251689	76251689	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gacagaccccaacctctttcGtaagtgttctcagtcaaaag	7	12	3	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:76251689G>A	ENST00000274368.4	+	4	966		c.e4+1		CRHBP_ENST00000506501.1_Splice_Site	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein						behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AACCTCTTTCGTAAGTGTTCT	0.408																																																	0													73	63	67					5																	76251689		2203	4300	6503	SO:0001630	splice_region_variant	1393			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.544+1G>A	5.37:g.76251689G>A			Q53F32|Q6FHT5	Splice_Site	SNP	-	e4+1	ENST00000274368.4	37	c.544+1	CCDS4034.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228816	0.79576	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6527	0.88169	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRHBP	76287445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.166000	0.94766	2.388000	0.81334	0.655000	0.94253	.	CRHBP	-	-		0.408	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHBP	HGNC	protein_coding	OTTHUMT00000219972.2	G	NM_001882	Intron	76251689	1	no_errors	ENST00000274368	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	76251689	G	A	76251689	5	1	106	1	0	0	0	0	0	0	1	0	3875	1159	40	2	559	2	CRHBP	5	76251689	Splice_Site	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	70786589	76251689	104663571	28	15742										
VCAN	1462	genome.wustl.edu	37	chr5	82818048	82818048	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctttggacctcaggcgctttCtacgccacagcccccagcaa	8	17	2	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:82818048C>G	ENST00000265077.3	+	7	4488	c.3923C>G	c.(3922-3924)tCt>tGt	p.S1308C	VCAN_ENST00000342785.4_Missense_Mutation_p.S1308C|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S1260C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1308	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGGCGCTTTCTACGCCACAG	0.443																																																	0													59	60	60					5																	82818048		2203	4299	6502	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3923C>G	5.37:g.82818048C>G	ENSP00000265077:p.Ser1308Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1308C	ENST00000265077.3	37	c.3923	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585133	0.28268	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.89617	-2.54;-2.27;-2.29	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000007	D	0.93726	0.7995	M	0.74258	2.255	0.33459	D	0.584719	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95800	0.8832	10	0.87932	D	0	.	13.2992	0.60315	0.0:0.9281:0.0:0.0719	.	1308;1308	P13611-3;P13611	.;CSPG2_HUMAN	C	1308;1308;1260	ENSP00000265077:S1308C;ENSP00000342768:S1308C;ENSP00000425959:S1260C	ENSP00000265077:S1308C	S	+	2	0	VCAN	82853804	0.997000	0.39634	0.485000	0.27403	0.003000	0.03518	3.573000	0.53856	2.756000	0.94617	0.655000	0.94253	TCT	VCAN	-	NULL		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82818048	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.760	G	G	82818048	C	G	82818048	3	3	106	1	0	0	0	0	1	0	0	0	17169	913	32	1	3945	1	VCAN	5	82818048	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	6566359	82818048	98097212	29	15743										
PCDHA6	56142	genome.wustl.edu	37	chr5	140209119	140209119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttcacggtgtctgcgcgagaCgcggacgcgcaggagaacgc	16	12	2	2	rs550072556		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:140209119C>T	ENST00000529310.1	+	1	1557	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.D481D|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGAGACGCGGACGCGC	0.652																																																	0													48	55	52					5																	140209119		2202	4297	6499	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1443C>T	5.37:g.140209119C>T			O75283|Q9NRT8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D481	ENST00000529310.1	37	c.1443	CCDS47281.1	5																																																																																			PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.652	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140209119	1	no_errors	ENST00000529310	ensembl	human	known	70_37	silent	SNP	0.173	T	T	140209119	C	T	140209119	2	4	106	1	0	0	0	0	0	0	0	1	11552	535	19	2		2	PCDHA6	5	140209119	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	57391071	140209119	40706141	30	15744										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gctggaccagaacgacaacgCgcccgagatcctgtaccctg	11	15	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.622																																																	0													152	153	152					5																	140720214		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1676C>T	5.37:g.140720214C>T	ENSP00000378077:p.Ala559Val		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A559V	ENST00000394576.2	37	c.1676	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	7.268	0.606631	0.14002	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	1.19	0.21007	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	U	0.808345	T	0.07007	0.0178	M	0.69185	2.1	0.09310	N	1	B;B	0.22541	0.005;0.071	B;B	0.24394	0.053;0.033	T	0.41016	-0.9532	10	0.44086	T	0.13	.	10.0865	0.42421	0.0:0.7185:0.0:0.2815	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	559	ENSP00000378077:A559V	ENSP00000378077:A559V	A	+	2	0	PCDHGA2	140700398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	0.005000	0.14708	-0.225000	0.12378	GCG	PCDHGA2	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140720214	1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.005	T	T	140720214	C	T	140720214	3	4	106	1	0	0	0	0	1	0	0	0	11578	768	27	2	1678	2	PCDHGA2	5	140720214	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	511095	140720214	40195046	31	15745										
SLC36A2	153201	genome.wustl.edu	37	chr5	150718698	150718698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gataataaggaagaagctcaCgatatgcctagaagggagaa	12	5	1	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:150718698C>A	ENST00000335244.4	-	5	577	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.V150L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	150					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	AAGAAGCTCACGATATGCCTA	0.408																																																	0													118	118	118					5																	150718698		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.448G>T	5.37:g.150718698C>A	ENSP00000334223:p.Val150Leu		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.V150L	ENST00000335244.4	37	c.448	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987301	0.74589	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02498	4.27;4.27	4.23	4.23	0.50019	.	0.133937	0.50627	D	0.000118	T	0.21427	0.0516	M	0.92077	3.27	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.98	D;D;D	0.77004	0.989;0.986;0.951	T	0.14727	-1.0462	10	0.66056	D	0.02	-19.4171	16.813	0.85726	0.0:1.0:0.0:0.0	.	150;150;150	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	150	ENSP00000334223:V150L;ENSP00000430535:V150L	ENSP00000334223:V150L	V	-	1	0	SLC36A2	150698891	1.000000	0.71417	0.909000	0.35828	0.814000	0.46013	5.324000	0.65863	2.363000	0.80096	0.460000	0.39030	GTG	SLC36A2	-	pfam_AA_transpt_TM		0.408	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	C			150718698	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	missense	SNP	0.998	A	A	150718698	C	A	150718698	3	1	106	1	0	0	0	0	1	0	0	0	14624	536	19	2	1027	2	SLC36A2	5	150718698	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	9998484	150718698	30196562	32	15746										
PRL	5617	genome.wustl.edu	37	chr6	22287704	22287704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cgattttatgtgaatccctgCgtaggcagtggagcaggtta	13	7	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:22287704C>T	ENST00000306482.1	-	5	1129	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	204					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGAATCCCTGCGTAGGCAGTG	0.458																																																	0													226	200	209					6																	22287704		2203	4300	6503	SO:0001583	missense	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.611G>A	6.37:g.22287704C>T	ENSP00000302150:p.Arg204His		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R204H	ENST00000306482.1	37	c.611	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651861	0.67472	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.90069	-2.61	5.66	5.66	0.87406	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.65320	2	0.80722	D	1	B;P	0.40619	0.001;0.724	B;B	0.43990	0.017;0.438	D	0.87609	0.2502	10	0.46703	T	0.11	-0.0219	20.1253	0.97977	0.0:1.0:0.0:0.0	.	204;205	P01236;Q5I0G2	PRL_HUMAN;.	H	204;173	ENSP00000302150:R204H	ENSP00000302150:R204H	R	-	2	0	PRL	22395683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.766000	0.55280	2.832000	0.97577	0.655000	0.94253	CGC	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.458	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	C	NM_000948		22287704	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22287704	C	T	22287704	3	4	106	1	0	0	0	0	1	0	0	0	12555	768	27	2	76	2	PRL	6	22287704	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		22287704	148827363	33	15747										
NKAPL	222698	genome.wustl.edu	37	chr6	28227708	28227708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ccagtcgttcaagaaacaagAaaaaaagaaagaataagtcg	8	6	1	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:28227708A>G	ENST00000343684.3	+	1	611	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	187	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAGAAACAAGAAAAAAAGAAA	0.368																																																	0													33	40	38					6																	28227708		2202	4297	6499	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.559A>G	6.37:g.28227708A>G	ENSP00000345716:p.Lys187Glu		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K187E	ENST00000343684.3	37	c.559	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238486	0.22711	.	.	ENSG00000189134	ENST00000343684	T	0.13778	2.56	4.95	3.76	0.43208	.	0.290026	0.35207	N	0.003364	T	0.06142	0.0159	M	0.78801	2.425	0.36338	D	0.859304	P	0.38788	0.647	B	0.31495	0.131	T	0.09997	-1.0649	10	0.46703	T	0.11	-16.092	5.034	0.14424	0.7203:0.1873:0.0924:0.0	.	187	Q5M9Q1	NKAPL_HUMAN	E	187	ENSP00000345716:K187E	ENSP00000345716:K187E	K	+	1	0	NKAPL	28335687	0.996000	0.38824	0.070000	0.20053	0.169000	0.22640	3.306000	0.51881	0.990000	0.38787	0.533000	0.62120	AAA	NKAPL	-	NULL		0.368	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	A			28227708	1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	0.992	G	G	28227708	A	G	28227708	3	3	106	1	0	0	0	0	1	0	0	0	10464	247	9	5	561	5	NKAPL	6	28227708	Missense_Mutation	SNP	A	TCGA-EK-A2RB-01A-11D-A18J-09	5940004	28227708	142887359	34	15748										
GUCA1A	2978	genome.wustl.edu	37	chr6	42146128	42146128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctctatgatgtagatggcaaCggctgcattgaccgcgatga	12	9	1	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:42146128C>T	ENST00000394237.1	+	4	1288	c.312C>T	c.(310-312)aaC>aaT	p.N104N	GUCA1A_ENST00000053469.4_Silent_p.N104N|GUCA1A_ENST00000372958.1_Silent_p.N104N|GUCA1A_ENST00000541991.1_Silent_p.N104N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGATGGCAACGGCTGCATTG	0.602																																																	0			GRCh37	CM085455	GUCA1A	M							124	114	118					6																	42146128		2203	4300	6503	SO:0001819	synonymous_variant	2978				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.312C>T	6.37:g.42146128C>T			B3KWT4|Q7Z6T1|Q9NU14	Silent	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.N104	ENST00000394237.1	37	c.312	CCDS4864.1	6																																																																																			GUCA1A	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.602	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCA1A	HGNC	protein_coding	OTTHUMT00000316582.1	C			42146128	1	no_errors	ENST00000053469	ensembl	human	known	70_37	silent	SNP	0.992	T	T	42146128	C	T	42146128	2	4	106	1	0	0	0	0	0	0	0	1	6908	535	19	2		2	GUCA1A	6	42146128	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	13918420	42146128	128968939	35	15749										
MDN1	23195	genome.wustl.edu	37	chr6	90398302	90398302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gctgccctacctgttcaagcGctgggtgttctggccagtcc	12	14	2	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:90398302G>A	ENST00000369393.3	-	66	11364	c.11249C>T	c.(11248-11250)gCg>gTg	p.A3750V	MDN1_ENST00000428876.1_Missense_Mutation_p.A3750V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3750					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGTTCAAGCGCTGGGTGTTC	0.552																																																	0													57	54	55					6																	90398302		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11249C>T	6.37:g.90398302G>A	ENSP00000358400:p.Ala3750Val		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.A3750V	ENST00000369393.3	37	c.11249	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191863	0.21954	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02812	4.15;4.15	5.44	3.19	0.36642	.	0.132813	0.49305	N	0.000146	T	0.00580	0.0019	N	0.25201	0.72	0.30742	N	0.746063	P	0.34662	0.462	B	0.17433	0.018	T	0.52200	-0.8607	10	0.17369	T	0.5	.	9.3804	0.38311	0.2947:0.0:0.7053:0.0	.	3750	Q9NU22	MDN1_HUMAN	V	3750	ENSP00000358400:A3750V;ENSP00000413970:A3750V	ENSP00000358400:A3750V	A	-	2	0	MDN1	90455023	1.000000	0.71417	0.106000	0.21319	0.550000	0.35303	6.554000	0.73923	0.401000	0.25424	0.305000	0.20034	GCG	MDN1	-	pirsf_Midasin		0.552	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90398302	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.889	A	A	90398302	G	A	90398302	3	1	106	1	0	0	0	0	1	0	0	0	9438	1087	38	2	5689	2	MDN1	6	90398302	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	48252174	90398302	80716765	36	15750										
CCNC	892	genome.wustl.edu	37	chr6	99997423	99997423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aggatacagtaggcaaagatCcgttctgtaggtatcattca	10	7	3	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:99997423C>G	ENST00000520429.1	-	9	1004	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCNC_ENST00000518714.1_Missense_Mutation_p.D187H|CCNC_ENST00000523799.1_Missense_Mutation_p.D102H|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000369220.4_Missense_Mutation_p.D186H|CCNC_ENST00000523985.1_Missense_Mutation_p.D102H|CCNC_ENST00000520371.1_Missense_Mutation_p.D187H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	187					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGCAAAGATCCGTTCTGTAG	0.348																																					GBM(57;273 1020 40094 44454 49348)												0													120	103	109					6																	99997423		2203	4299	6502	SO:0001583	missense	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.559G>C	6.37:g.99997423C>G	ENSP00000428982:p.Asp187His		B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H	p.D187H	ENST00000520429.1	37	c.559	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123471	0.77436	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.36699	1.61;1.61;1.61;1.24;1.26;1.24;1.61;1.29	5.25	4.38	0.52667	Cyclin-like (2);	0.049283	0.85682	D	0.000000	T	0.58466	0.2124	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69355	-0.5167	9	.	.	.	-9.743	14.1661	0.65477	0.0:0.9274:0.0:0.0726	.	187;187	Q7Z4L3;P24863	.;CCNC_HUMAN	H	187;186;187;102;133;102;187;102	ENSP00000428982:D187H;ENSP00000358222:D186H;ENSP00000430381:D187H;ENSP00000430014:D102H;ENSP00000430077:D133H;ENSP00000430119:D102H;ENSP00000430294:D187H;ENSP00000427885:D102H	.	D	-	1	0	CCNC	100104144	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.669000	0.83911	1.343000	0.45638	-0.140000	0.14226	GAT	CCNC	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H		0.348	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	C	NM_005190		99997423	-1	no_errors	ENST00000520429	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99997423	C	G	99997423	3	3	106	1	0	0	0	0	1	0	0	0	2920	855	30	1	308	1	CCNC	6	99997423	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	9599121	99997423	71117644	37	15751			1	63		2	2	16	C		6.153565e-05
CCNC	892	genome.wustl.edu	37	chr6	99997438	99997438	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aagatccgttctgtaggtatCattcactatcctcctataga	6	10	3	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:99997438C>T	ENST00000520429.1	-	9	989	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CCNC_ENST00000518714.1_Missense_Mutation_p.D182N|CCNC_ENST00000523799.1_Missense_Mutation_p.D97N|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000369220.4_Missense_Mutation_p.D181N|CCNC_ENST00000523985.1_Missense_Mutation_p.D97N|CCNC_ENST00000520371.1_Missense_Mutation_p.D182N	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	182					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CTGTAGGTATCATTCACTATC	0.363																																					GBM(57;273 1020 40094 44454 49348)												0													108	93	98					6																	99997438		2203	4300	6503	SO:0001583	missense	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.544G>A	6.37:g.99997438C>T	ENSP00000428982:p.Asp182Asn		B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H	p.D182N	ENST00000520429.1	37	c.544	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.314125	0.95655	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.55760	0.97;0.89;0.98;0.5;0.57;0.5;0.98;0.57	5.25	5.25	0.73442	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84859	0.0818	9	.	.	.	-10.2594	19.2018	0.93714	0.0:1.0:0.0:0.0	.	182;182	Q7Z4L3;P24863	.;CCNC_HUMAN	N	182;181;182;97;128;97;182;97	ENSP00000428982:D182N;ENSP00000358222:D181N;ENSP00000430381:D182N;ENSP00000430014:D97N;ENSP00000430077:D128N;ENSP00000430119:D97N;ENSP00000430294:D182N;ENSP00000427885:D97N	.	D	-	1	0	CCNC	100104159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.602000	0.87976	0.655000	0.94253	GAT	CCNC	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H		0.363	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	C	NM_005190		99997438	-1	no_errors	ENST00000520429	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99997438	C	T	99997438	3	4	106	1	0	0	0	0	1	0	0	0	2920	826	29	1	323	1	CCNC	6	99997438	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	15	99997438	71117629	38	15752			1	63		2	2	16	C		6.153565e-05
BCLAF1	9774	genome.wustl.edu	37	chr6	136599126	136599126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttgtctttgcaggacttcttCgtgaagggatgtgatgaatt	12	5	2	3	rs140335385	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:136599126C>T	ENST00000531224.1	-	4	1145	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R298Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R296Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R298Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R296Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R296Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	298					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTTCTTCGTGAAGGGAT	0.468																																					Colon(142;1534 1789 5427 7063 28491)												0								C	GLN/ARG,GLN/ARG,GLN/ARG	4,4402	4.2+/-10.8	0,4,2199	85	76	79		887,893,893	5.8	1	6	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,43,43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	296/870,298/748,298/921	136599126	4,13002	2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.893G>A	6.37:g.136599126C>T	ENSP00000435210:p.Arg298Gln		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.R298Q	ENST00000531224.1	37	c.893	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758122	0.69648	9.08E-4	0.0	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000043	T	0.13030	0.0316	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.992;0.992	P;P;P;P	0.50570	0.492;0.644;0.492;0.492	T	0.02417	-1.1162	10	0.38643	T	0.18	-5.3281	20.1012	0.97876	0.0:1.0:0.0:0.0	.	296;296;298;298	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Q	298;296;298;298;296;296;298	ENSP00000435210:R298Q;ENSP00000229446:R296Q;ENSP00000435441:R298Q;ENSP00000436501:R298Q;ENSP00000434826:R296Q;ENSP00000376159:R296Q;ENSP00000431734:R298Q	ENSP00000229446:R296Q	R	-	2	0	BCLAF1	136640819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.613000	0.67688	2.754000	0.94517	0.650000	0.86243	CGA	BCLAF1	-	NULL		0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	C	NM_014739		136599126	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136599126	C	T	136599126	3	4	106	1	0	0	0	0	1	0	0	0	1384	884	31	1	1909	1	BCLAF1	6	136599126	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	36601688	136599126	34515941	39	15753										
LATS1	9113	genome.wustl.edu	37	chr6	149997469	149997469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	acatttcaaaaagaataacaCcaacactccaccaatcacac	1	14	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:149997469C>A	ENST00000543571.1	-	7	3357	c.2810G>T	c.(2809-2811)gGt>gTt	p.G937V	LATS1_ENST00000253339.5_Missense_Mutation_p.G937V|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGAATAACACCAACACTCCA	0.318																																																	0													145	127	133					6																	149997469		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2810G>T	6.37:g.149997469C>A	ENSP00000437550:p.Gly937Val			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.G937V	ENST00000543571.1	37	c.2810	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709020	0.89018	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.56941	0.43;0.43	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.83119	0.5185	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89111	0.3496	9	.	.	.	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	937	O95835	LATS1_HUMAN	V	937	ENSP00000437550:G937V;ENSP00000253339:G937V	.	G	-	2	0	LATS1	150039162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	GGT	LATS1	-	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		0.318	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		149997469	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149997469	C	A	149997469	3	1	106	1	0	0	0	0	1	0	0	0	8666	507	18	4	590	4	LATS1	6	149997469	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	13398343	149997469	21117598	40	15754										
SYNE1	23345	genome.wustl.edu	37	chr6	152651255	152651255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tgccaggactggatctgatgCctggctttctcataagccaa	10	11	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:152651255C>T	ENST00000367255.5	-	78	15166	c.14565G>A	c.(14563-14565)agG>agA	p.R4855R	SYNE1_ENST00000265368.4_Silent_p.R4855R|SYNE1_ENST00000448038.1_Silent_p.R4784R|SYNE1_ENST00000423061.1_Silent_p.R4784R|SYNE1_ENST00000341594.5_Silent_p.R4602R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4855					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATCTGATGCCTGGCTTTCT	0.493										HNSCC(10;0.0054)																																							0													76	66	69					6																	152651255		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14565G>A	6.37:g.152651255C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R4855	ENST00000367255.5	37	c.14565	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152651255	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.067	T	T	152651255	C	T	152651255	2	4	106	1	0	0	0	0	0	0	0	1	15475	738	26	4		4	SYNE1	6	152651255	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	2653786	152651255	18463812	41	15755										
UNC93A	54346	genome.wustl.edu	37	chr6	167711437	167711437	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cactctgacttcatagagacCcttccagaagagcagctcac	7	14	3	4	rs192022113	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:167711437C>A	ENST00000230256.3	+	4	679	c.504C>A	c.(502-504)acC>acA	p.T168T	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCATAGAGACCCTTCCAGAAG	0.532																																																	0													134	120	124					6																	167711437		2203	4300	6503	SO:0001819	synonymous_variant	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.504C>A	6.37:g.167711437C>A			B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.T168	ENST00000230256.3	37	c.504	CCDS5300.1	6																																																																																			UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.532	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	C	NM_018974		167711437	1	no_errors	ENST00000230256	ensembl	human	known	70_37	silent	SNP	0.000	A	A	167711437	C	A	167711437	2	1	106	1	0	0	0	0	0	0	0	1	17027	610	22	4		4	UNC93A	6	167711437	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	15060182	167711437	3403630	42	15756										
GPER	2852	genome.wustl.edu	37	chr7	1131504	1131504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cgccctggccaatgggacagGtgagctctcggagcaccagc	14	14	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:1131504G>T	ENST00000297469.3	+	2	831	c.140G>T	c.(139-141)gGt>gTt	p.G47V	GPER1_ENST00000401670.1_Missense_Mutation_p.G47V|GPER1_ENST00000397092.1_Missense_Mutation_p.G47V|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.G47V|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	47				Missing (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										AATGGGACAGGTGAGCTCTCG	0.642																																																	0													128	104	112					7																	1131504		2203	4300	6503	SO:0001583	missense	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.140G>T	7.37:g.1131504G>T	ENSP00000297469:p.Gly47Val		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G47V	ENST00000297469.3	37	c.140	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688156	0.29962	.	.	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.68025	-0.3;0.82;-0.3;-0.3;-0.3	5.09	-0.86	0.10680	.	0.948534	0.08753	N	0.898893	T	0.46483	0.1395	N	0.19112	0.55	0.09310	N	0.999993	B	0.24823	0.112	B	0.22386	0.039	T	0.29761	-1.0001	10	0.34782	T	0.22	.	6.1989	0.20565	0.3539:0.4612:0.1849:0.0	.	47	Q99527	GPER_HUMAN	V	47	ENSP00000385151:G47V;ENSP00000410487:G47V;ENSP00000380281:G47V;ENSP00000297469:G47V;ENSP00000380277:G47V	ENSP00000297469:G47V	G	+	2	0	GPER	1098030	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.463000	0.21972	-0.055000	0.13244	-0.175000	0.13238	GGT	GPER	-	NULL		0.642	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	HGNC	protein_coding	OTTHUMT00000060001.1	G	NM_001039966		1131504	1	no_errors	ENST00000297469	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1131504	G	T	1131504	3	4	106	1	0	0	0	0	1	0	0	0	6626	1261	44	4	142	4	GPER	7	1131504	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		1131504	158007159	43	15757										
FBXL18	80028	genome.wustl.edu	37	chr7	5540978	5540978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gttgaatttcatgtgctgcaGgagggaagagccgttcagcc	14	8	2	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:5540978G>T	ENST00000382368.3	-	3	1045	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	FBXL18_ENST00000453700.3_Missense_Mutation_p.L308M	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	308									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ATGTGCTGCAGGAGGGAAGAG	0.597																																																	0													45	52	49					7																	5540978		2114	4229	6343	SO:0001583	missense	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.922C>A	7.37:g.5540978G>T	ENSP00000371805:p.Leu308Met		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L308M	ENST00000382368.3	37	c.922	CCDS43546.1	7	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360249	0.41801	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.49720	0.8;0.77	5.13	5.13	0.70059	.	0.305531	0.33895	N	0.004458	T	0.56292	0.1975	L	0.27053	0.805	0.19575	N	0.999969	D;D	0.71674	0.998;0.998	D;D	0.65443	0.935;0.935	T	0.54193	-0.8330	10	0.72032	D	0.01	.	17.9236	0.88975	0.0:0.0:1.0:0.0	.	308;308	F5H4Z4;Q96ME1-4	.;.	M	308	ENSP00000371805:L308M;ENSP00000444797:L308M	ENSP00000311990:L308M	L	-	1	2	FBXL18	5507504	1.000000	0.71417	0.173000	0.22940	0.957000	0.61999	4.201000	0.58439	2.553000	0.86117	0.650000	0.86243	CTG	FBXL18	-	NULL		0.597	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	G	NM_024963		5540978	-1	no_errors	ENST00000453700	ensembl	human	known	70_37	missense	SNP	0.217	T	T	5540978	G	T	5540978	3	4	106	1	0	0	0	0	1	0	0	0	5732	991	35	4	1246	4	FBXL18	7	5540978	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	4409474	5540978	153597685	44	15758										
EIF2AK1	27102	genome.wustl.edu	37	chr7	6094176	6094176	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gattcatttattcttacttaCgcttaaacacctgtcttgaa	4	9	3	1	rs148495208		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:6094176C>T	ENST00000199389.6	-	2	424		c.e2+1		RNU6-218P_ENST00000517120.1_RNA|EIF2AK1_ENST00000536084.1_Splice_Site	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1						negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCTTACTTACGCTTAAACAC	0.478																																																	0								C	,	0,4406		0,0,2203	81	78	79		,	5.4	1	7	dbSNP_134	79	1,8599		0,1,4299	no	splice-5,splice-5	EIF2AK1	NM_001134335.1,NM_014413.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,	6094176	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.277+1G>A	7.37:g.6094176C>T			A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Splice_Site	SNP	-	e2+1	ENST00000199389.6	37	c.277+1	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702386	0.68501	0.0	1.16E-4	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000446699	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8081	0.92047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2AK1	6060702	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	5.636000	0.67848	2.542000	0.85734	0.561000	0.74099	.	EIF2AK1	-	-		0.478	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	C	NM_014413	Intron	6094176	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	6094176	C	T	6094176	5	4	106	1	0	0	0	0	0	0	1	0	5006	550	19	2	1670	2	EIF2AK1	7	6094176	Splice_Site	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	553198	6094176	153044487	45	15759										
RSPH10B	728194	genome.wustl.edu	37	chr7	6798735	6798735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctatgaaggggaaaaggttcGtgggctgtatgagggagaag	18	3	0	3	rs199536223		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:6798735G>A	ENST00000403107.1	+	3	662	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R92H|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R92H|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R92H|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	92										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAAAGGTTCGTGGGCTGTAT	0.438																																																	0								G	HIS/ARG	8,3516		0,8,1754	5	5	5		275	1.3	0.9	7		5	125,7477		0,125,3676	no	missense	RSPH10B2	NM_001099697.1	29	0,133,5430	AA,AG,GG		1.6443,0.227,1.1954	benign	92/871	6798735	133,10993	1762	3801	5563	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.275G>A	7.37:g.6798735G>A	ENSP00000384766:p.Arg92His		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R92H	ENST00000403107.1	37	c.275	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116979	0.08881	0.00227	0.016443	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.21	1.33	0.21861	.	0.588391	0.17861	N	0.159518	T	0.12902	0.0313	N	0.21583	0.68	0.24340	N	0.994965	B	0.23316	0.083	B	0.22386	0.039	T	0.10823	-1.0613	10	0.45353	T	0.12	.	5.6641	0.17684	0.3696:0.0:0.6304:0.0	.	92	B2RC85	R10B2_HUMAN	H	92	ENSP00000384766:R92H;ENSP00000386102:R92H;ENSP00000297186:R92H;ENSP00000416710:R92H	ENSP00000297186:R92H	R	+	2	0	RSPH10B2	6765260	0.097000	0.21791	0.863000	0.33907	0.273000	0.26683	0.336000	0.19823	0.198000	0.20407	0.398000	0.26397	CGT	RSPH10B2	-	pfam_MORN		0.438	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	G	NM_001099697		6798735	1	no_errors	ENST00000297186	ensembl	human	known	70_37	missense	SNP	0.378	A	A	6798735	G	A	6798735	3	1	106	1	0	0	0	0	1	0	0	0	13733	1145	40	2	2970	2	RSPH10B	7	6798735	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	704559	6798735	152339928	46	15760										
HGF	3082	genome.wustl.edu	37	chr7	81392026	81392026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aaaatgaagtaacttacttgCaagtgaatggaagtccttta	8	5	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:81392026C>T	ENST00000222390.5	-	2	477	c.251G>A	c.(250-252)tGc>tAc	p.C84Y	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.C84Y|HGF_ENST00000354224.6_Missense_Mutation_p.C84Y|HGF_ENST00000453411.1_Missense_Mutation_p.C84Y|HGF_ENST00000457544.2_Missense_Mutation_p.C84Y|HGF_ENST00000423064.2_Missense_Mutation_p.C84Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	84	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AACTTACTTGCAAGTGAATGG	0.308																																																	0													156	144	148					7																	81392026		2203	4297	6500	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.251G>A	7.37:g.81392026C>T	ENSP00000222390:p.Cys84Tyr		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.C84Y	ENST00000222390.5	37	c.251	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084261	0.76642	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56;-5.56;-5.56;-5.56	5.72	5.72	0.89469	PAN-1 domain (1);Apple-like (2);	0.130260	0.64402	D	0.000001	D	0.99360	0.9775	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	119;84;84;84;84	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	Y	84	ENSP00000222390:C84Y;ENSP00000391238:C84Y;ENSP00000389854:C84Y;ENSP00000408270:C84Y;ENSP00000413829:C84Y;ENSP00000346164:C84Y;ENSP00000396307:C84Y;ENSP00000388592:C84Y	ENSP00000222390:C84Y	C	-	2	0	HGF	81229962	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.114000	0.64648	2.691000	0.91804	0.655000	0.94253	TGC	HGF	-	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app		0.308	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81392026	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81392026	C	T	81392026	3	4	106	1	0	0	0	0	1	0	0	0	7105	710	25	4	2023	4	HGF	7	81392026	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	74593291	81392026	77746637	47	15761										
PEG10	23089	genome.wustl.edu	37	chr7	94292667	94292667	+	5'UTR	DEL	A	A	-													0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aataagcgggttttgaaaacAaaaaaaagaaggagtggaag							TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:94292667delA	ENST00000482108.1	+	0	278				PEG10_ENST00000488574.1_5'UTR	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTTGAAAACAAAAAAAAGAA	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	23089			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.-202A>-	7.37:g.94292667delA			Q96A68|Q9UPV1	RNA	DEL	-	NULL	ENST00000482108.1	37	NULL	CCDS55126.1	7																																																																																			PEG10	-	-		0.443	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	A	NM_015068		94292667	1	no_errors	ENST00000493935	ensembl	human	known	70_37	rna	DEL	0.791	-	-	94292667	A	-	94292667	6	5	106	0	1	1	0	1	0	0	0	0	11743	131	5	0		0	PEG10	7	94292667	5'UTR	DEL	A	TCGA-EK-A2RB-01A-11D-A18J-09	12900641	94292667	64845996	48	15762										
ZKSCAN5	23660	genome.wustl.edu	37	chr7	99103863	99103863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atgaggcttcaggaccccggGaggctctcagccaactccgg	13	14	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:99103863G>A	ENST00000394170.2	+	2	447	c.196G>A	c.(196-198)Gag>Aag	p.E66K	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E66K|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E66K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	66	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGACCCCGGGAGGCTCTCAG	0.592																																																	0													72	74	73					7																	99103863		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.196G>A	7.37:g.99103863G>A	ENSP00000377725:p.Glu66Lys		A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E66K	ENST00000394170.2	37	c.196	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203867	0.79127	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170;ENST00000439985	T;T;T	0.08634	3.07;3.07;3.07	4.93	4.93	0.64822	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.507451	0.18098	N	0.151761	T	0.14657	0.0354	M	0.66939	2.045	0.29549	N	0.851512	B;B	0.30542	0.284;0.284	B;B	0.35770	0.21;0.21	T	0.02126	-1.1209	10	0.72032	D	0.01	.	13.8578	0.63540	0.0:0.0:1.0:0.0	.	66;66	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	66;66;66;66;14	ENSP00000322872:E66K;ENSP00000392104:E66K;ENSP00000377725:E66K	ENSP00000322872:E66K	E	+	1	0	ZKSCAN5	98941799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.335000	0.52105	2.735000	0.93741	0.561000	0.74099	GAG	ZKSCAN5	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.592	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	G	NM_014569		99103863	1	no_errors	ENST00000326775	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99103863	G	A	99103863	3	1	106	1	0	0	0	0	1	0	0	0	17720	1175	41	1	198	1	ZKSCAN5	7	99103863	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	4811196	99103863	60034800	49	15763										
FBXO24	26261	genome.wustl.edu	37	chr7	100192119	100192119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	actacctgcctcacctgcgcGtggcctgcatgacttccaac	8	17	1	1	rs372486506		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:100192119G>A	ENST00000241071.6	+	6	1229	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	FBXO24_ENST00000427939.2_Missense_Mutation_p.V341M|FBXO24_ENST00000468962.1_Missense_Mutation_p.V291M|FBXO24_ENST00000465843.1_Missense_Mutation_p.V289M|FBXO24_ENST00000360609.2_Missense_Mutation_p.V289M|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	303					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCACCTGCGCGTGGCCTGCAT	0.597																																																	0								G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	100	73	82		871,1021,907	5	1	7		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	FBXO24	NM_001163499.1,NM_012172.4,NM_033506.2	21,21,21	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	291/569,341/619,303/581	100192119	3,13003	2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.907G>A	7.37:g.100192119G>A	ENSP00000241071:p.Val303Met		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.V341M	ENST00000241071.6	37	c.1021	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501599	0.44455	2.27E-4	2.33E-4	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	D;T;T;D;D	0.83755	-1.76;0.47;0.47;-1.76;-1.76	5.03	5.03	0.67393	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.109891	0.40469	N	0.001096	T	0.72153	0.3425	N	0.08118	0	0.35511	D	0.800624	D;D;D;P	0.61697	0.99;0.99;0.99;0.621	P;P;P;B	0.49502	0.613;0.613;0.613;0.051	T	0.79557	-0.1754	10	0.62326	D	0.03	-11.8126	9.3513	0.38140	0.0952:0.0:0.9048:0.0	.	291;341;303;289	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	M	303;289;289;291;341	ENSP00000241071:V303M;ENSP00000353821:V289M;ENSP00000419602:V289M;ENSP00000420239:V291M;ENSP00000416558:V341M	ENSP00000241071:V303M	V	+	1	0	FBXO24	100030055	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	3.493000	0.53266	2.646000	0.89796	0.478000	0.44815	GTG	FBXO24	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.597	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	G			100192119	1	no_errors	ENST00000427939	ensembl	human	known	70_37	missense	SNP	0.994	A	A	100192119	G	A	100192119	3	1	106	1	0	0	0	0	1	0	0	0	5753	1145	40	2	1086	2	FBXO24	7	100192119	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	1088256	100192119	58946544	50	15764										
EMID2	136227	genome.wustl.edu	37	chr7	101063332	101063332	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctcggagacggtggtccagcGcgtgtaccagagctgccggt	16	12	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:101063332G>A	ENST00000397927.3	+	0	446				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GTGGTCCAGCGCGTGTACCAG	0.642																																																	0																																												136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063332G>A			Q32M90	Missense_Mutation	SNP	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.R78H	ENST00000397927.3	37	c.233		7	.	.	.	.	.	.	.	.	.	.	G	32	5.162733	0.94727	.	.	ENSG00000160963	ENST00000313669	T	0.47177	0.85	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.32703	U	0.005741	T	0.63570	0.2522	L	0.49699	1.58	0.30198	N	0.79887	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.64841	-0.6312	10	0.87932	D	0	.	15.7219	0.77718	0.0:0.0:1.0:0.0	.	78;78	Q96A83;C9JPW4	EMID2_HUMAN;.	H	78	ENSP00000318234:R78H	ENSP00000318234:R78H	R	+	2	0	EMID2	100850052	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.127000	0.94417	2.310000	0.77875	0.558000	0.71614	CGC	EMID2	-	pfam_EMI_domain,pfscan_EMI_domain		0.642	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	EMID2	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	G	NM_133457		101063332	1	no_errors	ENST00000313669	ensembl	human	known	70_37	missense	SNP	0.999	A	A	101063332	G	A	101063332	1	1	106	0	1	0	0	0	0	0	0	0	5104	1087	38	2		2	EMID2	7	101063332	RNA	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	871213	101063332	58075331	51	15765										
RP1	6101	genome.wustl.edu	37	chr8	55538851	55538851	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	caaagagataaagtgtttccTcacaatgaatctaaatattg	6	6	2	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:55538851T>A	ENST00000220676.1	+	4	2557	c.2409T>A	c.(2407-2409)ccT>ccA	p.P803P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	803					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTGTTTCCTCACAATGAAT	0.299																																					Colon(91;1014 1389 7634 14542 40420)												0													37	44	41					8																	55538851		2185	4291	6476	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2409T>A	8.37:g.55538851T>A				Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.P803	ENST00000220676.1	37	c.2409	CCDS6160.1	8																																																																																			RP1	-	NULL		0.299	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	T	NM_006269		55538851	1	no_errors	ENST00000220676	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55538851	T	A	55538851	2	1	106	1	0	0	0	0	0	0	0	1	13562	1538	54	5		5	RP1	8	55538851	Silent	SNP	T	TCGA-EK-A2RB-01A-11D-A18J-09		55538851	90825171	52	15766										
RP1	6101	genome.wustl.edu	37	chr8	55539381	55539381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gcacataactaaaattgccgGtttgacaggagataatctat	8	7	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:55539381G>T	ENST00000220676.1	+	4	3087	c.2939G>T	c.(2938-2940)gGt>gTt	p.G980V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	980					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATTGCCGGTTTGACAGGA	0.348																																					Colon(91;1014 1389 7634 14542 40420)												0													112	121	118					8																	55539381		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2939G>T	8.37:g.55539381G>T	ENSP00000220676:p.Gly980Val			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G980V	ENST00000220676.1	37	c.2939	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	3.574	-0.086919	0.07097	.	.	ENSG00000104237	ENST00000220676	T	0.40476	1.03	5.62	-11.2	0.00127	.	1.348760	0.04536	N	0.387217	T	0.15305	0.0369	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14227	-1.0480	10	0.41790	T	0.15	.	1.4946	0.02464	0.458:0.1728:0.1096:0.2596	.	980	P56715	RP1_HUMAN	V	980	ENSP00000220676:G980V	ENSP00000220676:G980V	G	+	2	0	RP1	55701934	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.549000	0.06041	-1.996000	0.00970	-0.140000	0.14226	GGT	RP1	-	NULL		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55539381	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55539381	G	T	55539381	3	4	106	1	0	0	0	0	1	0	0	0	13562	1261	44	4	2949	4	RP1	8	55539381	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	530	55539381	90824641	53	15767										
TOX	9760	genome.wustl.edu	37	chr8	59872531	59872531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tggcacatagtcctggctcgGctctgtcatgctcatataca	9	12	3	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:59872531G>T	ENST00000361421.1	-	2	359	c.139C>A	c.(139-141)Ccg>Acg	p.P47T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	47						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCCTGGCTCGGCTCTGTCATG	0.388																																					Pancreas(161;610 1969 17913 21374 22725)												0													97	91	93					8																	59872531		2203	4300	6503	SO:0001583	missense	9760				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.139C>A	8.37:g.59872531G>T	ENSP00000354842:p.Pro47Thr		Q96AV5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P47T	ENST00000361421.1	37	c.139	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887225	0.52014	.	.	ENSG00000198846	ENST00000361421	T	0.11495	2.77	5.88	5.88	0.94601	.	0.087598	0.50627	D	0.000117	T	0.29061	0.0722	L	0.46157	1.445	0.58432	D	0.999993	D	0.89917	1.0	D	0.79108	0.992	T	0.00083	-1.2102	9	.	.	.	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	47	O94900	TOX_HUMAN	T	47	ENSP00000354842:P47T	.	P	-	1	0	TOX	60035085	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.842000	0.86851	2.778000	0.95560	0.655000	0.94253	CCG	TOX	-	NULL		0.388	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	G	NM_014729		59872531	-1	no_errors	ENST00000361421	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59872531	G	T	59872531	3	4	106	1	0	0	0	0	1	0	0	0	16408	1203	42	4	1473	4	TOX	8	59872531	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	4333150	59872531	86491491	54	15768										
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885653	88885653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ggcacaggaccaggcatcagGgatctggaaactgcaaagca	13	10	2	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:88885653G>A	ENST00000319675.3	-	1	643	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	183										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGGCATCAGGGATCTGGAAA	0.577																																																	0													142	130	134					8																	88885653		2203	4300	6503	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.547C>T	8.37:g.88885653G>A	ENSP00000316496:p.Pro183Ser			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P183S	ENST00000319675.3	37	c.547	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874873	0.17395	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-1.08	0.09936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.146557	0.64402	N	0.000005	T	0.43077	0.1231	L	0.29908	0.895	0.29656	N	0.843586	B	0.18013	0.025	B	0.25506	0.061	T	0.26849	-1.0091	10	0.09843	T	0.71	.	3.7564	0.08586	0.6358:0.0:0.3642:0.0	.	183	Q8NA75	DC4L2_HUMAN	S	183	ENSP00000316496:P183S	ENSP00000316496:P183S	P	-	1	0	DCAF4L2	88954769	1.000000	0.71417	0.012000	0.15200	0.083000	0.17756	2.418000	0.44662	-0.423000	0.07394	0.467000	0.42956	CCT	DCAF4L2	-	superfamily_WD40_repeat_dom		0.577	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88885653	-1	no_errors	ENST00000319675	ensembl	human	known	70_37	missense	SNP	0.972	A	A	88885653	G	A	88885653	3	1	106	1	0	0	0	0	1	0	0	0	4277	1232	43	4	644	4	DCAF4L2	8	88885653	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	29013122	88885653	57478369	55	15769										
UBR5	51366	genome.wustl.edu	37	chr8	103269876	103269876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttacaagatcttgtcgttctGtcatgctcatcttctctact	5	11	6	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:103269876G>T	ENST00000520539.1	-	58	8777	c.8171C>A	c.(8170-8172)aCa>aAa	p.T2724K	UBR5_ENST00000220959.4_Missense_Mutation_p.T2723K|UBR5_ENST00000518205.1_Missense_Mutation_p.T452K|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.T2717K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2724	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.T2724I(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGTCGTTCTGTCATGCTCAT	0.328																																					Ovarian(131;96 1741 5634 7352 27489)												1	Substitution - Missense(1)	large_intestine(1)											89	82	84					8																	103269876		2202	4300	6502	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8171C>A	8.37:g.103269876G>T	ENSP00000429084:p.Thr2724Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.T2724K	ENST00000520539.1	37	c.8171	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824080	0.71143	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.47	5.47	0.80525	HECT (4);	0.204743	0.39341	N	0.001387	T	0.22475	0.0542	N	0.02368	-0.58	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.28385	0.089;0.089	T	0.16541	-1.0399	10	0.07325	T	0.83	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	2717;2724	E7EMW7;O95071	.;UBR5_HUMAN	K	2724;2723;452;2717	ENSP00000429084:T2724K;ENSP00000220959:T2723K;ENSP00000428693:T452K;ENSP00000427819:T2717K	ENSP00000220959:T2723K	T	-	2	0	UBR5	103339052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.578000	0.87016	0.585000	0.79938	ACA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103269876	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103269876	G	T	103269876	3	4	106	1	0	0	0	0	1	0	0	0	16936	1377	48	4	236	4	UBR5	8	103269876	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	14384223	103269876	43094146	56	15770										
KCNV1	27012	genome.wustl.edu	37	chr8	110980754	110980754	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	agttgaaaatatagagattcCcacggatagaaataggagca	10	5	0	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:110980754C>A	ENST00000524391.1	-	4	2098	c.1066G>T	c.(1066-1068)Gga>Tga	p.G356*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.G356*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	356					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAGATTCCCACGGATAGA	0.478																																																	0													71	68	69					8																	110980754		2203	4300	6503	SO:0001587	stop_gained	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1066G>T	8.37:g.110980754C>A	ENSP00000435954:p.Gly356*		Q9UHJ4	Nonsense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.G356*	ENST00000524391.1	37	c.1066	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	40	8.403156	0.98796	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	356;356;232	.	ENSP00000297404:G356X	G	-	1	0	KCNV1	111049930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.628000	0.89032	0.655000	0.94253	GGA	KCNV1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	C	NM_014379		110980754	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	110980754	C	A	110980754	4	1	106	1	0	0	0	0	0	1	0	0	8114	632	22	4	440	4	KCNV1	8	110980754	Nonsense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	7710878	110980754	35383268	57	15771										
TSTD2	158427	genome.wustl.edu	37	chr9	100368457	100368457	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atagaagtttctgcaatcaaGaaggatagtatcactttgtt	8	5	3	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:100368457G>C	ENST00000341170.4	-	7	1304	c.922C>G	c.(922-924)Ctt>Gtt	p.L308V	TSTD2_ENST00000354801.2_Missense_Mutation_p.L48V	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	308	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CTGCAATCAAGAAGGATAGTA	0.353																																																	0													116	115	115					9																	100368457		2203	4300	6503	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.922C>G	9.37:g.100368457G>C	ENSP00000342499:p.Leu308Val		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.L308V	ENST00000341170.4	37	c.922	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350544	0.61183	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.29655	1.56;1.56;1.56	5.18	2.35	0.29111	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	L	0.46819	1.47	0.40829	D	0.983575	P;D	0.63046	0.952;0.992	P;D	0.66716	0.664;0.946	T	0.24764	-1.0151	10	0.44086	T	0.13	-7.31	10.1505	0.42791	0.2254:0.0:0.7746:0.0	.	82;308	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	V	82;308;48;48	ENSP00000342499:L308V;ENSP00000364308:L48V;ENSP00000346856:L48V	ENSP00000342499:L308V	L	-	1	0	TSTD2	99408278	0.999000	0.42202	0.995000	0.50966	0.997000	0.91878	2.818000	0.48041	0.852000	0.35287	0.655000	0.94253	CTT	TSTD2	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.353	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	G	NM_139246		100368457	-1	no_errors	ENST00000341170	ensembl	human	known	70_37	missense	SNP	0.998	C	C	100368457	G	C	100368457	3	2	106	1	0	0	0	0	1	0	0	0	16706	942	33	1	644	1	TSTD2	9	100368457	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		100368457	40844974	58	15772										
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130649001	130649001	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tgctcattctggatgtaggtGacacattcgtccggcccctt	10	12	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:130649001G>T	ENST00000373146.1	-	7	1058	c.879C>A	c.(877-879)gtC>gtA	p.V293V	ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.S292*|ST6GALNAC6_ENST00000291839.5_Silent_p.V293V|ST6GALNAC6_ENST00000542456.1_Silent_p.V93V|ST6GALNAC6_ENST00000373144.3_Silent_p.V259V|ST6GALNAC6_ENST00000485320.1_5'UTR|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373141.1_Silent_p.V259V			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	293					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATGTAGGTGACACATTCGT	0.612																																																	0													233	182	199					9																	130649001		2203	4300	6503	SO:0001819	synonymous_variant	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.879C>A	9.37:g.130649001G>T			B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.S292*	ENST00000373146.1	37	c.875	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.999737	0.97994	.	.	ENSG00000160408	ENST00000373142	.	.	.	5.81	4.91	0.64330	.	0.432853	0.17287	N	0.179795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.6826	9.9427	0.41589	0.0764:0.1397:0.7839:0.0	.	.	.	.	X	292	.	ENSP00000362235:S292X	S	-	2	0	ST6GALNAC6	129688822	0.507000	0.26146	1.000000	0.80357	0.999000	0.98932	-0.271000	0.08572	1.469000	0.48083	0.655000	0.94253	TCA	ST6GALNAC6	-	NULL		0.612	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	G	NM_013443		130649001	-1	no_errors	ENST00000373142	ensembl	human	putative	70_37	nonsense	SNP	1.000	T	T	130649001	G	T	130649001	2	4	106	1	0	0	0	0	0	0	0	1	15258	1277	45	3		3	ST6GALNAC6	9	130649001	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	30280544	130649001	10564430	59	15773										
GFI1B	8328	genome.wustl.edu	37	chr9	135865272	135865272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	caccagaagtccgacatgaaGaagcacacctacatccacac	6	15	0	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:135865272G>A	ENST00000339463.3	+	10	1611	c.792G>A	c.(790-792)aaG>aaA	p.K264K	GFI1B_ENST00000450530.1_Silent_p.K264K|GFI1B_ENST00000372123.1_Silent_p.K218K|GFI1B_ENST00000372122.1_Silent_p.K264K|GFI1B_ENST00000534944.1_Silent_p.K218K|GFI1B_ENST00000372124.1_Silent_p.K218K			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	264	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGACATGAAGAAGCACACCT	0.617																																																	0													83	65	71					9																	135865272		2203	4300	6503	SO:0001819	synonymous_variant	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.792G>A	9.37:g.135865272G>A			O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K264	ENST00000339463.3	37	c.792	CCDS6957.1	9																																																																																			GFI1B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GFI1B	HGNC	protein_coding	OTTHUMT00000393840.1	G	NM_004188		135865272	1	no_errors	ENST00000339463	ensembl	human	known	70_37	silent	SNP	1.000	A	A	135865272	G	A	135865272	2	1	106	1	0	0	0	0	0	0	0	1	6359	933	33	1		1	GFI1B	9	135865272	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	5216271	135865272	5348159	60	15774										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72520346	72520346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctgcagagcctcctggaaagCcaacgggatcagaggaccat	12	12	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:72520346C>A	ENST00000373207.1	+	22	3409	c.3409C>A	c.(3409-3411)Cca>Aca	p.P1137T	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1140T	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1137	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCCTGGAAAGCCAACGGGATC	0.637																																																	0													58	59	59					10																	72520346		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3409C>A	10.37:g.72520346C>A	ENSP00000362303:p.Pro1137Thr		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.P1140T	ENST00000373207.1	37	c.3418	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530032	0.13127	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61742	0.08;0.11	3.88	1.97	0.26223	.	0.000000	0.45606	D	0.000350	T	0.35941	0.0949	L	0.29908	0.895	0.09310	N	1	B;B	0.22276	0.067;0.067	B;B	0.16289	0.015;0.015	T	0.24621	-1.0155	10	0.02654	T	1	.	9.8155	0.40849	0.5461:0.4539:0.0:0.0	.	1137;1140	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	T	1140;1137	ENSP00000362304:P1140T;ENSP00000362303:P1137T	ENSP00000362303:P1137T	P	+	1	0	ADAMTS14	72190352	0.000000	0.05858	0.004000	0.12327	0.054000	0.15201	-0.135000	0.10420	0.577000	0.29470	0.655000	0.94253	CCA	ADAMTS14	-	NULL		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	C	NM_080722		72520346	1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.003	A	A	72520346	C	A	72520346	3	1	106	1	0	0	0	0	1	0	0	0	259	739	26	4	3504	4	ADAMTS14	10	72520346	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		72520346	63014401	61	15775										
SORCS1	114815	genome.wustl.edu	37	chr10	108434815	108434815	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttttcaacttacgtcatgatGagagtctcttctccaggctc	7	11	4	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:108434815G>T	ENST00000263054.6	-	14	1939	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	SORCS1_ENST00000369698.1_Silent_p.L179L|SORCS1_ENST00000344440.6_Silent_p.L644L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	644					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGTCATGATGAGAGTCTCTT	0.408																																																	0													126	119	122					10																	108434815		2203	4300	6503	SO:0001819	synonymous_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1932C>A	10.37:g.108434815G>T			A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L644	ENST00000263054.6	37	c.1932	CCDS7559.1	10																																																																																			SORCS1	-	smart_VPS10		0.408	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918		108434815	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	silent	SNP	0.134	T	T	108434815	G	T	108434815	2	4	106	1	0	0	0	0	0	0	0	1	14960	1277	45	3		3	SORCS1	10	108434815	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	35914469	108434815	27099932	62	15776										
PPAPDC1A	196051	genome.wustl.edu	37	chr10	122348880	122348880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gctacagacagcactatcctCctctggccaacacagcttgc	7	16	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:122348880C>A	ENST00000398250.1	+	7	1034	c.682C>A	c.(682-684)Cct>Act	p.P228T	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P165T|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P218T|PPAPDC1A_ENST00000398248.1_Silent_p.L77L	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	228					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCACTATCCTCCTCTGGCCAA	0.517																																																	0													157	165	162					10																	122348880		2042	4212	6254	SO:0001583	missense	196051			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.682C>A	10.37:g.122348880C>A	ENSP00000381302:p.Pro228Thr		A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P228T	ENST00000398250.1	37	c.682	CCDS41573.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588329	0.86851	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000369073	T;T;T	0.74737	-0.87;-0.87;-0.87	5.36	4.43	0.53597	.	0.048375	0.85682	D	0.000000	D	0.85173	0.5636	M	0.74881	2.28	0.80722	D	1	D;B	0.89917	1.0;0.447	D;B	0.91635	0.999;0.439	D	0.86197	0.1616	10	0.54805	T	0.06	-7.4675	15.4492	0.75259	0.1392:0.8607:0.0:0.0	.	165;228	Q5VZY2-2;Q5VZY2	.;PPC1A_HUMAN	T	165;228;228;218	ENSP00000381302:P228T;ENSP00000407979:P228T;ENSP00000358069:P218T	ENSP00000358069:P218T	P	+	1	0	PPAPDC1A	122338870	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.513000	0.60476	2.511000	0.84671	0.655000	0.94253	CCT	PPAPDC1A	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.517	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC1A	HGNC	protein_coding		C	XM_113641		122348880	1	no_errors	ENST00000398250	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122348880	C	A	122348880	3	1	106	1	0	0	0	0	1	0	0	0	12317	855	30	3	708	3	PPAPDC1A	10	122348880	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	13914065	122348880	13185867	63	15777										
JAKMIP3	282973	genome.wustl.edu	37	chr10	133976858	133976858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ccaggtcatgagtgagctgcGcgagcgggacgcccagatcc	15	13	1	3	rs148025571		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:133976858G>A	ENST00000298622.4	+	19	2498	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	787						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGTGAGCTGCGCGAGCGGGAC	0.687																																																	0								G	HIS/ARG	0,4406		0,0,2203	49	37	41		2360	3.8	1	10	dbSNP_134	41	1,8595	1.2+/-3.3	0,1,4297	no	missense	JAKMIP3	NM_001105521.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	787/845	133976858	1,13001	2203	4298	6501	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2360G>A	10.37:g.133976858G>A	ENSP00000298622:p.Arg787His		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.R787H	ENST00000298622.4	37	c.2360	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.160086	0.94727	0.0	1.16E-4	ENSG00000188385	ENST00000298622	T	0.29655	1.56	3.77	3.77	0.43336	.	.	.	.	.	T	0.52869	0.1761	M	0.68317	2.08	0.49582	D	0.999802	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.54636	-0.8264	9	0.40728	T	0.16	.	16.1886	0.81971	0.0:0.0:1.0:0.0	.	224;787	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	H	787	ENSP00000298622:R787H	ENSP00000298622:R787H	R	+	2	0	JAKMIP3	133826848	1.000000	0.71417	0.964000	0.40570	0.899000	0.52679	9.019000	0.93662	2.102000	0.63906	0.460000	0.39030	CGC	JAKMIP3	-	NULL		0.687	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133976858	1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	0.999	A	A	133976858	G	A	133976858	3	1	106	1	0	0	0	0	1	0	0	0	7962	1087	38	2	2434	2	JAKMIP3	10	133976858	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	11627978	133976858	1557889	64	15778										
RASSF7	8045	genome.wustl.edu	37	chr11	563402	563402	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttcccaacccacagggccctCtgcctccagccagagaggag	10	17	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:563402C>G	ENST00000397583.3	+	5	1391	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	RASSF7_ENST00000344375.4_Missense_Mutation_p.L320V|RASSF7_ENST00000431809.1_3'UTR|MIR210HG_ENST00000500447.1_lincRNA|RASSF7_ENST00000454668.2_Intron|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000397582.3_3'UTR	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	320	Pro-rich.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGGGCCCTCTGCCTCCAGC	0.687																																					Pancreas(184;1170 3913 7268)												0													19	21	20					11																	563402		2200	4299	6499	SO:0001583	missense	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.958C>G	11.37:g.563402C>G	ENSP00000380713:p.Leu320Val		G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.L320V	ENST00000397583.3	37	c.958	CCDS7702.1	11	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881381	0.02530	.	.	ENSG00000099849	ENST00000344375;ENST00000397583	T;T	0.31769	1.48;1.48	3.21	-0.0979	0.13631	.	0.705172	0.11720	U	0.535976	T	0.19765	0.0475	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.31110	-0.9955	10	0.14252	T	0.57	.	1.5669	0.02606	0.1811:0.4662:0.1514:0.2013	.	320	Q02833	RASF7_HUMAN	V	320	ENSP00000344226:L320V;ENSP00000380713:L320V	ENSP00000344226:L320V	L	+	1	2	RASSF7	553402	0.000000	0.05858	0.092000	0.20876	0.074000	0.17049	0.720000	0.25896	0.069000	0.16605	0.462000	0.41574	CTG	RASSF7	-	NULL		0.687	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	C	NM_003475		563402	1	no_errors	ENST00000344375	ensembl	human	known	70_37	missense	SNP	0.004	G	G	563402	C	G	563402	3	3	106	1	0	0	0	0	1	0	0	0	13121	912	32	1	1035	1	RASSF7	11	563402	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		563402	134443114	65	15779										
EFCAB4A	283229	genome.wustl.edu	37	chr11	828915	828915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctgtgtttgaaagtctggacCgggctcacactggcttcctc	11	12	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:828915C>T	ENST00000525077.1	+	2	330	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.R77W|EFCAB4A_ENST00000450448.1_Missense_Mutation_p.R77W			Q8N4Y2	EFC4A_HUMAN		77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in dbSNP:rs7126805). {ECO:0000269|PubMed:15489334}.		cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCTGGACCGGGCTCACAC	0.657																																																	0													73	81	79					11																	828915		2062	4195	6257	SO:0001583	missense	283229																														ENST00000525077.1:c.229C>T	11.37:g.828915C>T	ENSP00000435299:p.Arg77Trp		D5LPR2|Q8NBW8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R77W	ENST00000525077.1	37	c.229		11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391451	0.83011	.	.	ENSG00000177685	ENST00000533803;ENST00000527089;ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.49	3.5	0.40072	EF-hand-like domain (1);	0.165886	0.39274	U	0.001412	T	0.35068	0.0919	N	0.19112	0.55	0.26701	N	0.971163	D;D;P	0.71674	0.998;0.99;0.95	P;P;B	0.50570	0.644;0.631;0.406	T	0.17440	-1.0369	10	0.66056	D	0.02	.	10.9026	0.47059	0.1886:0.8114:0.0:0.0	.	77;77;77	E7EWX3;Q8N4Y2-3;Q8N4Y2	.;.;EFC4A_HUMAN	W	77	ENSP00000433602:R77W;ENSP00000432726:R77W;ENSP00000432334:R77W;ENSP00000409256:R77W;ENSP00000435299:R77W	ENSP00000324024:R77W	R	+	1	2	EFCAB4A	818915	0.998000	0.40836	0.996000	0.52242	0.926000	0.56050	1.401000	0.34589	2.057000	0.61298	0.491000	0.48974	CGG	EFCAB4A	-	pfscan_EF_HAND_2		0.657	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1	C			828915	1	no_errors	ENST00000450448	ensembl	human	known	70_37	missense	SNP	0.981	T	T	828915	C	T	828915	3	4	106	1	0	0	0	0	1	0	0	0	4946	643	23	2	235	2	EFCAB4A	11	828915	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	265513	828915	134177601	66	15780										
OR8K1	390157	genome.wustl.edu	37	chr11	56113585	56113585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atttattctcatggggattaCagacaaccctgggctgcagg	11	9	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:56113585C>A	ENST00000279783.2	+	1	165	c.71C>A	c.(70-72)aCa>aAa	p.T24K		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATGGGGATTACAGACAACCCT	0.438										HNSCC(65;0.19)																																							0													110	103	105					11																	56113585		2201	4296	6497	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.71C>A	11.37:g.56113585C>A	ENSP00000279783:p.Thr24Lys		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T24K	ENST00000279783.2	37	c.71	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071689	0.76301	.	.	ENSG00000150261	ENST00000279783	T	0.00438	7.42	5.18	5.18	0.71444	.	0.135096	0.34507	N	0.003907	T	0.01061	0.0035	M	0.77616	2.38	0.28331	N	0.921793	D	0.71674	0.998	D	0.65010	0.931	T	0.32824	-0.9892	10	0.72032	D	0.01	-19.0572	13.6431	0.62265	0.1548:0.8452:0.0:0.0	.	24	Q8NGG5	OR8K1_HUMAN	K	24	ENSP00000279783:T24K	ENSP00000279783:T24K	T	+	2	0	OR8K1	55870161	0.006000	0.16342	0.162000	0.22713	0.839000	0.47603	2.227000	0.42972	2.387000	0.81309	0.549000	0.68633	ACA	OR8K1	-	NULL		0.438	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	C	NM_001002907		56113585	1	no_errors	ENST00000279783	ensembl	human	known	70_37	missense	SNP	0.648	A	A	56113585	C	A	56113585	3	1	106	1	0	0	0	0	1	0	0	0	11267	478	17	4	73	4	OR8K1	11	56113585	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	55284670	56113585	78892931	67	15781										
OR8K1	390157	genome.wustl.edu	37	chr11	56113638	56113638	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gactcttcctcatcatatatCtggtcacagtgataggcaat	7	10	5	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:56113638C>T	ENST00000279783.2	+	1	218	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CATCATATATCTGGTCACAGT	0.468										HNSCC(65;0.19)																																							0													145	129	135					11																	56113638		2201	4296	6497	SO:0001819	synonymous_variant	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.124C>T	11.37:g.56113638C>T			B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L42	ENST00000279783.2	37	c.124	CCDS31528.1	11																																																																																			OR8K1	-	prints_GPCR_Rhodpsn		0.468	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	C	NM_001002907		56113638	1	no_errors	ENST00000279783	ensembl	human	known	70_37	silent	SNP	0.001	T	T	56113638	C	T	56113638	2	4	106	1	0	0	0	0	0	0	0	1	11267	912	32	1		1	OR8K1	11	56113638	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	53	56113638	78892878	68	15782										
OR5AP2	338675	genome.wustl.edu	37	chr11	56409223	56409223	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tctaacgaaggcatcttcaaGacggcaatgaagatacacag	9	9	3	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:56409223G>T	ENST00000302981.1	-	1	692	c.693C>A	c.(691-693)gtC>gtA	p.V231V	OR5AP2_ENST00000544374.1_Silent_p.V232V	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GCATCTTCAAGACGGCAATGA	0.448																																																	0													170	156	161					11																	56409223		2201	4296	6497	SO:0001819	synonymous_variant	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.693C>A	11.37:g.56409223G>T			B2RNM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V232	ENST00000302981.1	37	c.696	CCDS31534.1	11																																																																																			OR5AP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	HGNC	protein_coding	OTTHUMT00000391613.1	G	NM_001002925		56409223	-1	no_errors	ENST00000544374	ensembl	human	known	70_37	silent	SNP	0.700	T	T	56409223	G	T	56409223	2	4	106	1	0	0	0	0	0	0	0	1	11168	929	33	3		3	OR5AP2	11	56409223	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	295585	56409223	78597293	69	15783										
AQP11	282679	genome.wustl.edu	37	chr11	77301505	77301505	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gagaggagcttcgcttgcaaGaatcccatccgagtcgactt	11	11	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:77301505G>A	ENST00000313578.3	+	1	826	c.468G>A	c.(466-468)aaG>aaA	p.K156K	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	156					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TCGCTTGCAAGAATCCCATCC	0.572																																																	0													103	91	95					11																	77301505		2200	4292	6492	SO:0001819	synonymous_variant	282679			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"Ion channels / Aquaporins"	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.468G>A	11.37:g.77301505G>A				Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP	p.K156	ENST00000313578.3	37	c.468	CCDS8251.1	11																																																																																			AQP11	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11		0.572	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP11	HGNC	protein_coding	OTTHUMT00000382582.1	G	NM_173039		77301505	1	no_errors	ENST00000313578	ensembl	human	known	70_37	silent	SNP	0.167	A	A	77301505	G	A	77301505	2	1	106	1	0	0	0	0	0	0	0	1	823	933	33	1		1	AQP11	11	77301505	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	20892282	77301505	57705011	70	15784										
ZBTB16	7704	genome.wustl.edu	37	chr11	113934839	113934839	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gagggatgggggacaaggttGaggaaagaggcaaagagggg	22	2	0	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:113934839G>A	ENST00000335953.4	+	2	1197	c.817G>A	c.(817-819)Gag>Aag	p.E273K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E273K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	273					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGACAAGGTTGAGGAAAGAGG	0.617																																																	0													45	39	41					11																	113934839		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.817G>A	11.37:g.113934839G>A	ENSP00000338157:p.Glu273Lys		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E273K	ENST00000335953.4	37	c.817	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579174	0.46006	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.10382	2.88;2.88	5.63	5.63	0.86233	.	0.108017	0.64402	D	0.000006	T	0.08044	0.0201	N	0.08118	0	0.45097	D	0.998114	B;B	0.30482	0.18;0.281	B;B	0.30105	0.016;0.111	T	0.39941	-0.9589	10	0.40728	T	0.16	-17.7542	19.679	0.95950	0.0:0.0:1.0:0.0	.	273;278	Q05516;Q59H43	ZBT16_HUMAN;.	K	273	ENSP00000338157:E273K;ENSP00000376721:E273K	ENSP00000338157:E273K	E	+	1	0	ZBTB16	113440049	1.000000	0.71417	0.928000	0.36995	0.563000	0.35712	6.537000	0.73847	2.651000	0.90000	0.655000	0.94253	GAG	ZBTB16	-	NULL		0.617	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		113934839	1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	0.999	A	A	113934839	G	A	113934839	3	1	106	1	0	0	0	0	1	0	0	0	17556	1291	45	1	819	1	ZBTB16	11	113934839	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	36633334	113934839	21071677	71	15785										
SORL1	6653	genome.wustl.edu	37	chr11	121425928	121425928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aatggaagcacagggcaagaGgtgatcatcaattctggcct	12	8	3	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:121425928G>T	ENST00000260197.7	+	18	2601	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	824					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGGGCAAGAGGTGATCATCA	0.468																																																	0													114	117	116					11																	121425928		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2472G>T	11.37:g.121425928G>T	ENSP00000260197:p.Glu824Asp		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E824D	ENST00000260197.7	37	c.2472	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	19.99	3.927883	0.73327	.	.	ENSG00000137642	ENST00000260197	D	0.91464	-2.85	5.74	0.706	0.18133	Six-bladed beta-propeller, TolB-like (1);	0.097938	0.64402	D	0.000002	D	0.94601	0.8260	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.93177	0.6571	10	0.72032	D	0.01	.	10.346	0.43906	0.4888:0.0:0.5112:0.0	.	824	Q92673	SORL_HUMAN	D	824	ENSP00000260197:E824D	ENSP00000260197:E824D	E	+	3	2	SORL1	120931138	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	0.640000	0.24705	-0.040000	0.13580	0.563000	0.77884	GAG	SORL1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.468	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121425928	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.996	T	T	121425928	G	T	121425928	3	4	106	1	0	0	0	0	1	0	0	0	14964	991	35	4	2542	4	SORL1	11	121425928	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	7491089	121425928	13580588	72	15786										
A2ML1	144568	genome.wustl.edu	37	chr12	8982339	8982339	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ccagtgtatttccgcattgtCaccatggatagcaacttcgt	8	11	1	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:8982339C>T	ENST00000299698.7	+	4	606	c.426C>T	c.(424-426)gtC>gtT	p.V142V	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCGCATTGTCACCATGGATA	0.433																																																	0													136	134	134					12																	8982339		1973	4174	6147	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.426C>T	12.37:g.8982339C>T				Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.V142	ENST00000299698.7	37	c.426	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_N		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	C	NM_144670		8982339	1	no_errors	ENST00000299698	ensembl	human	known	70_37	silent	SNP	0.888	T	T	8982339	C	T	8982339	2	4	106	1	0	0	0	0	0	0	0	1	5	813	29	1		1	A2ML1	12	8982339	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		8982339	124869556	73	15787										
LRP6	4040	genome.wustl.edu	37	chr12	12317428	12317428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gccaatagggcaagcacagcGaaggccctgaggtctataga	13	10	1	2	rs121918313		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:12317428G>A	ENST00000261349.4	-	9	1907	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	LRP6_ENST00000543091.1_Missense_Mutation_p.R611C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	611	EGF-like 2.		R -> C (in ADCAD2; impairs Wnt signaling in vitro). {ECO:0000269|PubMed:17332414}.		anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAAGCACAGCGAAGGCCCTGA	0.483																																																	0			GRCh37	CM070983	LRP6	M	rs121918313						115	109	111					12																	12317428		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1831C>T	12.37:g.12317428G>A	ENSP00000261349:p.Arg611Cys		Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R611C	ENST00000261349.4	37	c.1831	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741508	0.89573	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96651	-4.08;-4.08	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000008	D	0.97545	0.9196	M	0.87038	2.855	0.80722	A	1	D;D	0.69078	0.997;0.989	P;P	0.50896	0.653;0.586	D	0.97644	1.0150	9	0.56958	D	0.05	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	611;611	F5H7J9;O75581	.;LRP6_HUMAN	C	611	ENSP00000261349:R611C;ENSP00000442472:R611C	ENSP00000261349:R611C	R	-	1	0	LRP6	12208695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.928000	0.56506	2.824000	0.97209	0.655000	0.94253	CGC	LRP6	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.483	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	G			12317428	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12317428	G	A	12317428	3	1	106	1	0	0	0	0	1	0	0	0	8985	1058	37	1	3070	1	LRP6	12	12317428	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	3335089	12317428	121534467	74	15788										
BICD1	636	genome.wustl.edu	37	chr12	32481347	32481347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cttgcaactgtctcgtcaaaGagcagcggctcgggagctag	13	11	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:32481347G>C	ENST00000281474.5	+	5	2061	c.1958G>C	c.(1957-1959)aGa>aCa	p.R653T	BICD1_ENST00000548411.1_Missense_Mutation_p.R653T	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	653					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCTCGTCAAAGAGCAGCGGCT	0.493																																																	0													86	91	89					12																	32481347		2203	4300	6503	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1958G>C	12.37:g.32481347G>C	ENSP00000281474:p.Arg653Thr		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like	p.R653T	ENST00000281474.5	37	c.1958	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737323	0.69304	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.55588	0.51;0.51	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.74881	2.28	0.80722	D	1	P;P	0.49559	0.775;0.925	B;P	0.48270	0.306;0.572	T	0.59542	-0.7435	10	0.14252	T	0.57	.	18.4173	0.90575	0.0:0.0:1.0:0.0	.	653;653	F8W113;Q96G01	.;BICD1_HUMAN	T	653	ENSP00000446793:R653T;ENSP00000281474:R653T	ENSP00000281474:R653T	R	+	2	0	BICD1	32372614	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.611000	0.98342	2.333000	0.79357	0.655000	0.94253	AGA	BICD1	-	pfam_Bicaudal-D_microtubule-assoc		0.493	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	G	NM_001714		32481347	1	no_errors	ENST00000281474	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32481347	G	C	32481347	3	2	106	1	0	0	0	0	1	0	0	0	1429	942	33	1	1976	1	BICD1	12	32481347	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	20163919	32481347	101370548	75	15789										
ADPRHL1	113622	genome.wustl.edu	37	chr13	114083292	114083292	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gtgtgccggatggtcttcctGcagtactcttctgccagagg	13	11	3	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr13:114083292G>T	ENST00000375418.3	-	4	707	c.621C>A	c.(619-621)tgC>tgA	p.C207*	ADPRHL1_ENST00000356501.4_Nonsense_Mutation_p.C125*	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	207					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGGTCTTCCTGCAGTACTCTT	0.652																																																	0													55	50	52					13																	114083292		2203	4300	6503	SO:0001587	stop_gained	113622			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.621C>A	13.37:g.114083292G>T	ENSP00000364567:p.Cys207*		Q5JUG2|Q96GD1	Nonsense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.C207*	ENST00000375418.3	37	c.621	CCDS9535.1	13	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246785	0.59103	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	.	.	.	5.15	-0.492	0.12041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-23.8797	10.2413	0.43314	0.6641:0.0:0.3359:0.0	.	.	.	.	X	125;207;125	.	ENSP00000348894:C125X	C	-	3	2	ADPRHL1	113131293	1.000000	0.71417	0.846000	0.33378	0.144000	0.21451	0.735000	0.26115	-0.339000	0.08401	0.462000	0.41574	TGC	ADPRHL1	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro		0.652	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	HGNC	protein_coding	OTTHUMT00000045915.2	G	NM_138430		114083292	-1	no_errors	ENST00000375418	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	114083292	G	T	114083292	4	4	106	1	0	0	0	0	0	1	0	0	332	1311	46	4	459	4	ADPRHL1	13	114083292	Nonsense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		114083292	1086586	76	15790										
SAMD4A	23034	genome.wustl.edu	37	chr14	55169040	55169040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ggctgaatcacttggaggacCgcacgtcgaccagctttggt	13	11	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:55169040C>T	ENST00000554335.1	+	3	1120	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	SAMD4A_ENST00000357634.3_Missense_Mutation_p.R152C|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R153C|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R153C|SAMD4A_ENST00000555112.1_3'UTR			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	153					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTTGGAGGACCGCACGTCGAC	0.517																																																	0													87	83	85					14																	55169040		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.457C>T	14.37:g.55169040C>T	ENSP00000452535:p.Arg153Cys		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.R153C	ENST00000554335.1	37	c.457	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306373	0.81247	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.74209	-0.82;-0.82;-0.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	M	0.72894	2.215	0.43000	D	0.994511	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.83512	0.0081	10	0.38643	T	0.18	-11.816	20.8794	0.99867	0.0:1.0:0.0:0.0	.	52;153;153	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	C	153;153;153;152;152	ENSP00000452535:R153C;ENSP00000375919:R153C;ENSP00000350261:R152C	ENSP00000306381:R153C	R	+	1	0	SAMD4A	54238790	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.783000	0.62403	2.941000	0.99782	0.655000	0.94253	CGC	SAMD4A	-	NULL		0.517	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	C	NM_015589		55169040	1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55169040	C	T	55169040	3	4	106	1	0	0	0	0	1	0	0	0	13851	652	23	2	460	2	SAMD4A	14	55169040	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		55169040	52180500	77	15791										
C14orf37	145407	genome.wustl.edu	37	chr14	58605832	58605832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctttatttaatgatgttgccGatggtactgctgacatcatc	8	8	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:58605832G>A	ENST00000267485.7	-	2	439	c.245C>T	c.(244-246)tCg>tTg	p.S82L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	82						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGATGTTGCCGATGGTACTGC	0.458																																																	0													187	182	183					14																	58605832		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.245C>T	14.37:g.58605832G>A	ENSP00000267485:p.Ser82Leu		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.S82L	ENST00000267485.7	37	c.245	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031506	0.35797	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.36878	1.23	5.82	3.06	0.35304	.	0.325666	0.26812	N	0.022376	T	0.32852	0.0843	M	0.64997	1.995	0.09310	N	0.999999	B;B;B;B	0.26081	0.016;0.141;0.016;0.016	B;B;B;B	0.16722	0.011;0.016;0.011;0.011	T	0.24693	-1.0153	10	0.54805	T	0.06	-3.9066	9.2253	0.37402	0.2241:0.0:0.7759:0.0	.	120;82;82;82	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	L	82;120	ENSP00000267485:S82L	ENSP00000267485:S82L	S	-	2	0	C14orf37	57675585	1.000000	0.71417	0.153000	0.22517	0.018000	0.09664	2.862000	0.48388	0.410000	0.25675	-0.700000	0.03674	TCG	C14orf37	-	NULL		0.458	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	G	NM_001001872		58605832	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.263	A	A	58605832	G	A	58605832	3	1	106	1	0	0	0	0	1	0	0	0	1775	1059	37	1	2107	1	C14orf37	14	58605832	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	3436792	58605832	48743708	78	15792										
RTN1	6252	genome.wustl.edu	37	chr14	60212576	60212576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	agtggtttcaacagaaggttCtatttccgtcagtgtgattt	10	6	3	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:60212576C>G	ENST00000267484.5	-	2	1200	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	289					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACAGAAGGTTCTATTTCCGTC	0.478																																																	0													109	103	105					14																	60212576		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.865G>C	14.37:g.60212576C>G	ENSP00000267484:p.Glu289Gln		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E289Q	ENST00000267484.5	37	c.865	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583270	0.28268	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24151	1.87	5.53	5.53	0.82687	.	0.379302	0.27155	N	0.020676	T	0.25717	0.0626	L	0.48642	1.525	0.09310	N	1	B	0.22909	0.077	B	0.21360	0.034	T	0.09271	-1.0682	10	0.30854	T	0.27	.	16.4904	0.84199	0.0:0.8693:0.1307:0.0	.	289	Q16799	RTN1_HUMAN	Q	289;215	ENSP00000267484:E289Q	ENSP00000267484:E289Q	E	-	1	0	RTN1	59282329	0.822000	0.29219	0.781000	0.31783	0.872000	0.50106	3.050000	0.49877	2.588000	0.87417	0.557000	0.71058	GAA	RTN1	-	NULL		0.478	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	C			60212576	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.081	G	G	60212576	C	G	60212576	3	3	106	1	0	0	0	0	1	0	0	0	13755	922	32	1	1562	1	RTN1	14	60212576	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	1606744	60212576	47136964	79	15793										
MPP5	64398	genome.wustl.edu	37	chr14	67799610	67799610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gataaagcctatcaggaattGcttaggttaattaacaaact	7	6	1	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:67799610G>T	ENST00000261681.4	+	15	2626	c.1965G>T	c.(1963-1965)ttG>ttT	p.L655F	MPP5_ENST00000555925.1_Missense_Mutation_p.L621F|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	655	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATCAGGAATTGCTTAGGTTAA	0.413																																																	0													95	84	88					14																	67799610		2203	4300	6503	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1965G>T	14.37:g.67799610G>T	ENSP00000261681:p.Leu655Phe		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.L655F	ENST00000261681.4	37	c.1965	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052963	0.55218	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.28454	1.61;1.61	5.55	4.66	0.58398	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000001	T	0.46927	0.1418	M	0.70275	2.135	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.50110	-0.8866	10	0.87932	D	0	.	4.4009	0.11386	0.2099:0.0:0.6151:0.175	.	655	Q8N3R9	MPP5_HUMAN	F	655;621	ENSP00000261681:L655F;ENSP00000451488:L621F	ENSP00000261681:L655F	L	+	3	2	MPP5	66869363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.996000	0.40776	1.350000	0.45770	0.591000	0.81541	TTG	MPP5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.413	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67799610	1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67799610	G	T	67799610	3	4	106	1	0	0	0	0	1	0	0	0	9760	1310	46	4	2015	4	MPP5	14	67799610	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	7587034	67799610	39549930	80	15794										
EML5	161436	genome.wustl.edu	37	chr14	89083219	89083219	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tcccaaaacctcatctcctaGaatactagagggaaggaaca	7	11	2	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:89083219G>T	ENST00000380664.5	-	40	5622	c.5623C>A	c.(5623-5625)Cta>Ata	p.L1875I	EML5_ENST00000554922.1_Missense_Mutation_p.L1883I|EML5_ENST00000352093.5_Missense_Mutation_p.L1837I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1875						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATCTCCTAGAATACTAGAG	0.418																																																	0													85	82	83					14																	89083219		1900	4126	6026	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5623C>A	14.37:g.89083219G>T	ENSP00000370039:p.Leu1875Ile		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1883I	ENST00000380664.5	37	c.5647	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946260	0.53079	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.52754	0.89;0.65;0.93	5.26	2.34	0.29019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.58004	0.2092	M	0.74881	2.28	0.42075	D	0.991225	D	0.61080	0.989	P	0.56751	0.805	T	0.55648	-0.8108	10	0.37606	T	0.19	-7.7695	9.5922	0.39552	0.2354:0.0:0.7646:0.0	.	1875	Q05BV3	EMAL5_HUMAN	I	1883;1837;1875	ENSP00000451998:L1883I;ENSP00000298315:L1837I;ENSP00000370039:L1875I	ENSP00000298315:L1837I	L	-	1	2	EML5	88152972	1.000000	0.71417	0.994000	0.49952	0.353000	0.29299	4.436000	0.59948	0.268000	0.21939	-0.136000	0.14681	CTA	EML5	-	superfamily_WD40_repeat_dom		0.418	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	G			89083219	-1	no_errors	ENST00000554922	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89083219	G	T	89083219	3	4	106	1	0	0	0	0	1	0	0	0	5112	933	33	3	298	3	EML5	14	89083219	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	21283609	89083219	18266321	81	15795										
SEMA7A	8482	genome.wustl.edu	37	chr15	74704301	74704301	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atctccatgatgttgaaggcGaagctgtgctcctgctcccc	10	13	1	2	rs376016282		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr15:74704301G>A	ENST00000261918.4	-	11	1895	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	SEMA7A_ENST00000542748.1_Silent_p.F284F|SEMA7A_ENST00000543145.2_Silent_p.F435F	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	449	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGTTGAAGGCGAAGCTGTGCT	0.642																																																	0								G	,,	0,4394		0,0,2197	121	83	96		1305,852,1347	-7.1	0	15		96	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	,,	435/653,284/502,449/667	74704301	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1347C>T	15.37:g.74704301G>A			B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.F449	ENST00000261918.4	37	c.1347	CCDS10262.1	15																																																																																			SEMA7A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.642	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA7A	HGNC	protein_coding	OTTHUMT00000272904.3	G	NM_003612		74704301	-1	no_errors	ENST00000261918	ensembl	human	known	70_37	silent	SNP	0.000	A	A	74704301	G	A	74704301	2	1	106	1	0	0	0	0	0	0	0	1	14073	1049	37	1		1	SEMA7A	15	74704301	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		74704301	27827091	82	15796										
NUBP2	3483	genome.wustl.edu	37	chr16	1838598	1838598	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cccctggaccctgcgctcatGaggaccctggaggagggcca	14	15	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:1838598G>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000565987.1_Missense_Mutation_p.M173I|NUBP2_ENST00000568706.1_Missense_Mutation_p.M92I|NUBP2_ENST00000262302.9_Missense_Mutation_p.M233I|NUBP2_ENST00000565134.1_3'UTR|NUBP2_ENST00000543305.1_Missense_Mutation_p.M92I			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCGCTCATGAGGACCCTGG	0.662																																																	0													36	31	32					16																	1838598		2194	4298	6492	SO:0001628	intergenic_variant	10101			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838598G>A			B4DZY8|E9PGU3	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK	p.M233I	ENST00000215539.3	37	c.699	CCDS10446.1	16	.	.	.	.	.	.	.	.	.	.	G	5.325	0.245385	0.10077	.	.	ENSG00000095906	ENST00000262302;ENST00000543305	T;T	0.39997	1.05;1.99	4.84	-7.25	0.01470	.	0.749470	0.12810	N	0.437232	T	0.16896	0.0406	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10268	-1.0637	10	0.33940	T	0.23	-9.5389	4.3659	0.11225	0.1598:0.5077:0.2107:0.1218	.	233	Q9Y5Y2	NUBP2_HUMAN	I	233;92	ENSP00000262302:M233I;ENSP00000437763:M92I	ENSP00000262302:M233I	M	+	3	0	NUBP2	1778599	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.881000	0.01626	-0.839000	0.04212	-0.321000	0.08615	ATG	NUBP2	-	NULL		0.662	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBP2	HGNC	protein_coding	OTTHUMT00000250509.2	G			1838598	1	no_errors	ENST00000262302	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1838598	G	A	1838598	1	1	106	0	1	0	0	0	0	0	0	0	10740	1290	45	1		1	NUBP2	16	1838598	IGR	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		1838598	88516155	83	15797										
PRKCB	5579	genome.wustl.edu	37	chr16	24231365	24231365	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cccactgataaactcttcatCatgaacttggaccaaaatga	5	11	3	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:24231365C>T	ENST00000321728.7	+	17	2122	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	649	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AACTCTTCATCATGAACTTGG	0.448																																																	0													142	132	136					16																	24231365		2197	4300	6497	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1947C>T	16.37:g.24231365C>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.I649	ENST00000321728.7	37	c.1947	CCDS10618.1	16																																																																																			PRKCB	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g		0.448	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	C	NM_212535		24231365	1	no_errors	ENST00000321728	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24231365	C	T	24231365	2	4	106	1	0	0	0	0	0	0	0	1	12535	816	29	1		1	PRKCB	16	24231365	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	22392767	24231365	66123388	84	15798										
KIF22	3835	genome.wustl.edu	37	chr16	29811297	29811297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	accagaggcaaagagagcccGaggccctgaggaagaggaga	16	9	0	5			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:29811297G>A	ENST00000160827.4	+	8	1248	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	KIF22_ENST00000561482.1_Missense_Mutation_p.R335Q|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R335Q|KIF22_ENST00000569382.2_Missense_Mutation_p.R335Q|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	403					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AAGAGAGCCCGAGGCCCTGAG	0.587																																																	0													72	66	68					16																	29811297		2197	4300	6497	SO:0001583	missense	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1208G>A	16.37:g.29811297G>A	ENSP00000160827:p.Arg403Gln		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R403Q	ENST00000160827.4	37	c.1208	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	8.902	0.956618	0.18507	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74209	-0.74;-0.82	5.41	2.39	0.29439	.	.	.	.	.	T	0.50514	0.1620	N	0.19112	0.55	0.37368	D	0.911529	P;B	0.37997	0.614;0.338	B;B	0.25614	0.062;0.01	T	0.49031	-0.8981	9	0.38643	T	0.18	.	7.0307	0.24965	0.2759:0.0:0.7241:0.0	.	335;403	B7Z265;Q14807	.;KIF22_HUMAN	Q	403;335	ENSP00000160827:R403Q;ENSP00000383562:R335Q	ENSP00000160827:R403Q	R	+	2	0	KIF22	29718798	0.999000	0.42202	0.957000	0.39632	0.474000	0.32979	1.254000	0.32897	0.400000	0.25396	0.650000	0.86243	CGA	KIF22	-	NULL		0.587	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	G			29811297	1	no_errors	ENST00000160827	ensembl	human	known	70_37	missense	SNP	0.540	A	A	29811297	G	A	29811297	3	1	106	1	0	0	0	0	1	0	0	0	8310	1058	37	1	1238	1	KIF22	16	29811297	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	5579932	29811297	60543456	85	15799										
TRIM72	493829	genome.wustl.edu	37	chr16	31235905	31235905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctttacctgagcttcggcgaCggcgtcctctccttctacga	9	15	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:31235905C>T	ENST00000322122.3	+	7	1547	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCTTCGGCGACGGCGTCCTCT	0.682																																																	0													10	8	9					16																	31235905		2127	4191	6318	SO:0001819	synonymous_variant	493829			AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.1263C>T	16.37:g.31235905C>T				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D421	ENST00000322122.3	37	c.1263	CCDS32437.1	16																																																																																			TRIM72	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.682	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000433567.1	C	NM_001008274		31235905	1	no_errors	ENST00000322122	ensembl	human	known	70_37	silent	SNP	0.982	T	T	31235905	C	T	31235905	2	4	106	1	0	0	0	0	0	0	0	1	16576	535	19	2		2	TRIM72	16	31235905	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	1424608	31235905	59118848	86	15800										
CDH5	1003	genome.wustl.edu	37	chr16	66424396	66424396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cccagatgagccccagaaccGgatgaccaagtacagcatct	9	14	1	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:66424396G>A	ENST00000341529.3	+	6	1020	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	CDH5_ENST00000563425.2_Missense_Mutation_p.R291Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCCCAGAACCGGATGACCAAG	0.552																																																	0													85	79	81					16																	66424396		2201	4300	6501	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.872G>A	16.37:g.66424396G>A	ENSP00000344115:p.Arg291Gln		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R291Q	ENST00000341529.3	37	c.872	CCDS10804.1	16	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852964	0.51270	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.37584	1.19	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50514	0.1620	L	0.48642	1.525	0.80722	D	1	D	0.61080	0.989	P	0.57720	0.826	T	0.45775	-0.9238	9	0.72032	D	0.01	.	17.8559	0.88762	0.0:0.0:1.0:0.0	.	291	P33151	CADH5_HUMAN	Q	291;291;32	ENSP00000344115:R291Q	ENSP00000344115:R291Q	R	+	2	0	CDH5	64981897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.196000	0.65136	2.894000	0.99253	0.655000	0.94253	CGG	CDH5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	HGNC	protein_coding	OTTHUMT00000268767.1	G	NM_001795		66424396	1	no_errors	ENST00000341529	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66424396	G	A	66424396	3	1	106	1	0	0	0	0	1	0	0	0	3118	1116	39	2	890	2	CDH5	16	66424396	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	35188491	66424396	23930357	87	15801										
DHX38	9785	genome.wustl.edu	37	chr16	72137934	72137934	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atcctgctccgagagtccctCcgggaagccgacctggatca	11	15	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:72137934C>T	ENST00000268482.3	+	14	2423	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	638	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGAGTCCCTCCGGGAAGCCG	0.577																																					Melanoma(97;711 1442 7855 13832 28836)												0													117	106	109					16																	72137934		2198	4300	6498	SO:0001819	synonymous_variant	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1914C>T	16.37:g.72137934C>T			B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L638	ENST00000268482.3	37	c.1914	CCDS10907.1	16																																																																																			DHX38	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.577	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	C	NM_014003		72137934	1	no_errors	ENST00000268482	ensembl	human	known	70_37	silent	SNP	0.998	T	T	72137934	C	T	72137934	2	4	106	1	0	0	0	0	0	0	0	1	4521	842	30	1		1	DHX38	16	72137934	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	5713538	72137934	18216819	88	15802										
MYO1C	4641	genome.wustl.edu	37	chr17	1381435	1381435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gacttgagcgtgagctcgatGaagagctgctgcagcttctc	13	10	1	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:1381435G>A	ENST00000575158.1	-	12	1418	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	MYO1C_ENST00000545534.2_Silent_p.F425F|MYO1C_ENST00000361007.2_Silent_p.F414F|MYO1C_ENST00000359786.5_Silent_p.F449F|MYO1C_ENST00000438665.2_Silent_p.F430F|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	416	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGAGCTCGATGAAGAGCTGCT	0.602																																																	0													85	80	82					17																	1381435		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1242C>T	17.37:g.1381435G>A			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F449	ENST00000575158.1	37	c.1347	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.602	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1381435	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1381435	G	A	1381435	2	1	106	1	0	0	0	0	0	0	0	1	10093	1281	45	1		1	MYO1C	17	1381435	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		1381435	79813775	89	15803										
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840152	1840152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttccttgcgggcggccctgtCggtggtggtgagcgtgtgtg	19	9	0	1	rs572459222		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:1840152C>T	ENST00000331238.6	-	2	1443	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCGGCCCTGTCGGTGGTGGTG	0.701																																					GBM(68;949 1139 14865 32798 38342)												0													15	18	17					17																	1840152		2160	4230	6390	SO:0001583	missense	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.964G>A	17.37:g.1840152C>T	ENSP00000330631:p.Asp322Asn			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D322N	ENST00000331238.6	37	c.964	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825199	0.32237	.	.	ENSG00000185924	ENST00000331238	T	0.62232	0.04	4.36	4.36	0.52297	.	0.000000	0.41605	D	0.000860	T	0.48132	0.1483	L	0.38531	1.155	0.37558	D	0.918948	B	0.22146	0.065	B	0.12837	0.008	T	0.47289	-0.9129	10	0.12766	T	0.61	.	12.949	0.58389	0.0:0.837:0.163:0.0	.	322	Q86UN2	R4RL1_HUMAN	N	322	ENSP00000330631:D322N	ENSP00000330631:D322N	D	-	1	0	RTN4RL1	1786902	0.935000	0.31712	1.000000	0.80357	0.936000	0.57629	1.984000	0.40658	2.268000	0.75426	0.549000	0.68633	GAC	RTN4RL1	-	NULL		0.701	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	C	NM_178568		1840152	-1	no_errors	ENST00000331238	ensembl	human	known	70_37	missense	SNP	0.997	T	T	1840152	C	T	1840152	3	4	106	1	0	0	0	0	1	0	0	0	13761	884	31	1	365	1	RTN4RL1	17	1840152	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	458717	1840152	79355058	90	15804										
TRPV3	162514	genome.wustl.edu	37	chr17	3438998	3438998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gctcgatggcgatgttcagcGccgtctgccctgcggagcgg	16	13	2	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:3438998G>T	ENST00000576742.1	-	7	974	c.653C>A	c.(652-654)gCg>gAg	p.A218E	TRPV3_ENST00000301365.4_Missense_Mutation_p.A218E|TRPV3_ENST00000572519.1_Missense_Mutation_p.A218E	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	218					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGTTCAGCGCCGTCTGCCC	0.736																																																	0													8	9	9					17																	3438998		2163	4231	6394	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.653C>A	17.37:g.3438998G>T	ENSP00000461518:p.Ala218Glu		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.A218E	ENST00000576742.1	37	c.653	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.688246	0.96784	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.71341	-0.56	5.03	5.03	0.67393	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.89491	0.6730	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.997;0.999;1.0;1.0;0.997	D;D;D;D;D;D;P	0.91635	0.979;0.993;0.933;0.993;0.999;0.999;0.89	D	0.92506	0.6012	10	0.87932	D	0	-11.7793	18.2979	0.90153	0.0:0.0:1.0:0.0	.	202;202;218;202;218;218;218	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	E	218;218;202	ENSP00000301365:A218E	ENSP00000301365:A218E	A	-	2	0	TRPV3	3385748	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.422000	0.97458	2.741000	0.93983	0.555000	0.69702	GCG	TRPV3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.736	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2	G	NM_145068		3438998	-1	no_errors	ENST00000301365	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3438998	G	T	3438998	3	4	106	1	0	0	0	0	1	0	0	0	16628	1087	38	2	1767	2	TRPV3	17	3438998	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	1598846	3438998	77756212	91	15805										
WDR16	9482	genome.wustl.edu	37	chr17	9480072	9480072	+	5'Flank	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctggaacttgacgccgtgatCggcttcaatggtgaggcctc	13	11	1	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:9480072C>G	ENST00000306357.4	-	0	0				STX8_ENST00000574431.1_5'Flank|STX8_ENST00000573373.1_5'Flank|WDR16_ENST00000576499.1_Missense_Mutation_p.I20M|WDR16_ENST00000352665.5_Missense_Mutation_p.I20M|WDR16_ENST00000396219.3_Missense_Mutation_p.I20M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						ACGCCGTGATCGGCTTCAATG	0.547											OREG0024167	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	66	63					17																	9480072		1943	4151	6094	SO:0001631	upstream_gene_variant	146845			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844		17.37:g.9480072C>G	Exception_encountered	657	O60712|Q53XT8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I20M	ENST00000306357.4	37	c.60	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697721	0.30142	.	.	ENSG00000166596	ENST00000352665;ENST00000396219	T;T	0.36340	1.26;1.53	5.67	2.15	0.27550	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.54727	0.1876	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.85130	0.997;0.897	T	0.55528	-0.8127	9	0.66056	D	0.02	.	9.6655	0.39981	0.0:0.733:0.0:0.267	.	20;20	Q8N1V2-3;Q8N1V2	.;WDR16_HUMAN	M	20	ENSP00000339449:I20M;ENSP00000379521:I20M	ENSP00000339449:I20M	I	+	3	3	WDR16	9420797	0.974000	0.33945	1.000000	0.80357	0.999000	0.98932	-0.174000	0.09839	0.738000	0.32606	0.655000	0.94253	ATC	WDR16	-	superfamily_WD40_repeat_dom		0.547	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	HGNC	protein_coding	OTTHUMT00000439206.3	C	NM_004853		9480072	1	no_errors	ENST00000352665	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9480072	C	G	9480072	1	3	106	0	1	0	0	0	0	0	0	0	17307	874	31	1		1	WDR16	17	9480072	5'Flank	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	6041074	9480072	71715138	92	15806										
SREBF1	6720	genome.wustl.edu	37	chr17	17720301	17720301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gtccaggtcagcctgcttgcGatgcctccagaagtacacgg	12	13	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:17720301G>A	ENST00000261646.5	-	9	1940	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	SREBF1_ENST00000355815.4_Missense_Mutation_p.R616C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R332C|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.R586C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	586					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GCCTGCTTGCGATGCCTCCAG	0.652																																																	0													50	56	54					17																	17720301		2203	4300	6503	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1756C>T	17.37:g.17720301G>A	ENSP00000261646:p.Arg586Cys		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R616C	ENST00000261646.5	37	c.1846	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.023294|5.023294	0.93462|0.93462	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161|ENST00000395751	T;T;T;T|.	0.18338|.	2.22;2.22;2.22;2.22|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79155|0.79155	0.4398|0.4398	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.996|.	T|T	0.80743|0.80743	-0.1246|-0.1246	10|5	0.87932|.	D|.	0|.	-24.1976|-24.1976	17.7619|17.7619	0.88467|0.88467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	586;616;205|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	C|L	586;616;586;332;205;423;512|593	ENSP00000345822:R586C;ENSP00000348069:R616C;ENSP00000261646:R586C;ENSP00000379106:R332C|.	ENSP00000261646:R586C|.	R|S	-|-	1|2	0|0	SREBF1|SREBF1	17661026|17661026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.738000|9.738000	0.98835|0.98835	2.496000|2.496000	0.84212|0.84212	0.561000|0.561000	0.74099|0.74099	CGC|TCG	SREBF1	-	NULL		0.652	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	G	NM_004176		17720301	-1	no_errors	ENST00000355815	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17720301	G	A	17720301	3	1	106	1	0	0	0	0	1	0	0	0	15171	1058	37	1	1731	1	SREBF1	17	17720301	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	8240229	17720301	63474909	93	15807										
SCRN2	90507	genome.wustl.edu	37	chr17	45918202	45918202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atggggagtcagggctcgacGacgccatctggggagaggcg	19	9	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:45918202G>A	ENST00000290216.9	-	2	133	c.8C>T	c.(7-9)tCg>tTg	p.S3L	SCRN2_ENST00000407215.3_Missense_Mutation_p.S3L|SCRN2_ENST00000584123.1_Missense_Mutation_p.S11L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	3						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGGGCTCGACGACGCCATCTG	0.647											OREG0024502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22	27	25					17																	45918202		2202	4300	6502	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.8C>T	17.37:g.45918202G>A	ENSP00000290216:p.Ser3Leu	935	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.S3L	ENST00000290216.9	37	c.8	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	g	16.62	3.175106	0.57692	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.08634	3.22;3.07	5.55	2.47	0.30058	.	0.486738	0.18828	N	0.130046	T	0.04998	0.0134	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.41233	-0.9520	10	0.22109	T	0.4	0.0626	6.1735	0.20431	0.1622:0.0:0.6852:0.1527	.	3;3;3	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	L	3	ENSP00000290216:S3L;ENSP00000383935:S3L	ENSP00000290216:S3L	S	-	2	0	SCRN2	43273201	0.000000	0.05858	0.010000	0.14722	0.149000	0.21700	-0.060000	0.11712	0.710000	0.31997	-0.187000	0.12897	TCG	SCRN2	-	NULL		0.647	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918202	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	missense	SNP	0.007	A	A	45918202	G	A	45918202	3	1	106	1	0	0	0	0	1	0	0	0	13969	1059	37	1	1315	1	SCRN2	17	45918202	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	28197901	45918202	35277008	94	15808										
CBX1	10951	genome.wustl.edu	37	chr17	46148890	46148890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gatatgacaacctgtgggcaCttgacattggcttccttggc	11	10	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:46148890C>T	ENST00000393408.3	-	5	945	c.465G>A	c.(463-465)aaG>aaA	p.K155K	CBX1_ENST00000225603.4_Silent_p.K155K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	155	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CCTGTGGGCACTTGACATTGG	0.488																																					NSCLC(136;694 2497 38792 39034)												0													102	78	86					17																	46148890		2203	4300	6503	SO:0001819	synonymous_variant	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.465G>A	17.37:g.46148890C>T			P23197	Silent	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.K155	ENST00000393408.3	37	c.465	CCDS11525.1	17																																																																																			CBX1	-	pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow		0.488	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	C	NM_006807		46148890	-1	no_errors	ENST00000225603	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46148890	C	T	46148890	2	4	106	1	0	0	0	0	0	0	0	1	2722	564	20	4		4	CBX1	17	46148890	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	230688	46148890	35046320	95	15809										
SCN4A	6329	genome.wustl.edu	37	chr17	62020421	62020421	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gtgatgtcgaaggcctgcttCgtcacgaggtcatacaccat	11	11	2	1	rs376395544		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:62020421C>T	ENST00000435607.1	-	23	4129	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	SCN4A_ENST00000578147.1_Silent_p.T1351T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1351					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGCCTGCTTCGTCACGAGGT	0.562																																																	0								C		0,4406		0,0,2203	218	198	205		4053	-7.7	0.2	17		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN4A	NM_000334.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1351/1837	62020421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4053G>A	17.37:g.62020421C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.T1351	ENST00000435607.1	37	c.4053	CCDS45761.1	17																																																																																			SCN4A	-	NULL		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62020421	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	0.453	T	T	62020421	C	T	62020421	2	4	106	1	0	0	0	0	0	0	0	1	13950	871	31	1		1	SCN4A	17	62020421	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	15871531	62020421	19174789	96	15810										
ABCA8	10351	genome.wustl.edu	37	chr17	66924155	66924155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	caatgagatttgagccgtccGatggatgaggaaatgcatta	12	6	0	3	rs143566631		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:66924155G>A	ENST00000269080.2	-	9	1312	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	ABCA8_ENST00000586539.1_Missense_Mutation_p.S392L|ABCA8_ENST00000430352.2_Missense_Mutation_p.S392L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	392					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGAGCCGTCCGATGGATGAGG	0.328																																																	0								G	LEU/SER	0,4406		0,0,2203	68	69	68		1175	-1.9	0	17	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCA8	NM_007168.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	392/1582	66924155	1,13005	2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1175C>T	17.37:g.66924155G>A	ENSP00000269080:p.Ser392Leu		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S392L	ENST00000269080.2	37	c.1175	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	9.910	1.209139	0.22205	0.0	1.16E-4	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000542396	D;D	0.86627	-2.14;-2.15	4.14	-1.87	0.07737	.	1.593530	0.03942	N	0.286998	D	0.84853	0.5564	M	0.65498	2.005	0.09310	N	1	B;B;B;B;B	0.25351	0.024;0.124;0.007;0.024;0.059	B;B;B;B;B	0.24269	0.013;0.052;0.015;0.031;0.052	T	0.64824	-0.6316	10	0.23891	T	0.37	.	9.9602	0.41691	0.4398:0.0:0.5602:0.0	.	331;392;392;392;392	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	392;392;331;23	ENSP00000269080:S392L;ENSP00000402814:S392L	ENSP00000269080:S392L	S	-	2	0	ABCA8	64435750	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.359000	0.07632	-0.730000	0.04869	-0.813000	0.03139	TCG	ABCA8	-	NULL		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	G	NM_007168		66924155	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	missense	SNP	0.000	A	A	66924155	G	A	66924155	3	1	106	1	0	0	0	0	1	0	0	0	38	1059	37	1	3690	1	ABCA8	17	66924155	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	4903734	66924155	14271055	97	15811										
WDR7	23335	genome.wustl.edu	37	chr18	54350029	54350029	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttatactccttagtatcaaaGatatcaccagactggattag	6	8	2	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr18:54350029G>C	ENST00000254442.3	+	5	676	c.465G>C	c.(463-465)aaG>aaC	p.K155N	WDR7_ENST00000357574.3_Missense_Mutation_p.K155N|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	155					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGTATCAAAGATATCACCAG	0.428																																																	0													140	129	132					18																	54350029		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.465G>C	18.37:g.54350029G>C	ENSP00000254442:p.Lys155Asn		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K155N	ENST00000254442.3	37	c.465	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654164	0.88056	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.55760	0.5;0.5	4.72	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	L	0.51422	1.61	0.80722	D	1	D;D	0.64830	0.963;0.994	P;P	0.56434	0.798;0.795	T	0.62243	-0.6895	10	0.40728	T	0.16	.	17.6246	0.88091	0.0:0.0:1.0:0.0	.	155;155	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	N	155	ENSP00000254442:K155N;ENSP00000350187:K155N	ENSP00000254442:K155N	K	+	3	2	WDR7	52501027	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.795000	0.85887	2.327000	0.79052	0.514000	0.50259	AAG	WDR7	-	superfamily_Quinonprotein_ADH-like		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	G			54350029	1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54350029	G	C	54350029	3	2	106	1	0	0	0	0	1	0	0	0	17351	933	33	1	479	1	WDR7	18	54350029	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		54350029	23727219	98	15812										
SOCS6	9306	genome.wustl.edu	37	chr18	67992052	67992052	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttggtagctgctatggtaaaGatatggccagctgcgatatc	12	7	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr18:67992052G>T	ENST00000397942.3	+	2	464	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	SOCS6_ENST00000582322.1_Missense_Mutation_p.D50Y	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	50					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTATGGTAAAGATATGGCCAG	0.418																																					Melanoma(84;1024 1361 24382 36583 42651)												0													91	90	91					18																	67992052		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.148G>T	18.37:g.67992052G>T	ENSP00000381034:p.Asp50Tyr		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D50Y	ENST00000397942.3	37	c.148	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505226	0.44558	.	.	ENSG00000170677	ENST00000397942	T	0.28895	1.59	5.4	5.4	0.78164	.	0.359044	0.27139	N	0.020756	T	0.38506	0.1043	L	0.43152	1.355	0.80722	D	1	P	0.49447	0.924	P	0.48030	0.564	T	0.23154	-1.0196	10	0.87932	D	0	-8.7373	19.1893	0.93658	0.0:0.0:1.0:0.0	.	50	O14544	SOCS6_HUMAN	Y	50	ENSP00000381034:D50Y	ENSP00000381034:D50Y	D	+	1	0	SOCS6	66143032	1.000000	0.71417	0.950000	0.38849	0.770000	0.43624	9.176000	0.94839	2.527000	0.85204	0.561000	0.74099	GAT	SOCS6	-	NULL		0.418	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	G			67992052	1	no_errors	ENST00000397942	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67992052	G	T	67992052	3	4	106	1	0	0	0	0	1	0	0	0	14948	942	33	3	150	3	SOCS6	18	67992052	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	13642023	67992052	10085196	99	15813										
THOP1	7064	genome.wustl.edu	37	chr19	2796129	2796129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gaggctgcgcggtacctggaGcggctaatcaagctgggccg	17	11	1	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:2796129G>T	ENST00000307741.6	+	4	632	c.429G>T	c.(427-429)gaG>gaT	p.E143D	THOP1_ENST00000586677.1_Missense_Mutation_p.E22D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	143					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACCTGGAGCGGCTAATCA	0.587																																																	0													53	46	49					19																	2796129		2203	4299	6502	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.429G>T	19.37:g.2796129G>T	ENSP00000304467:p.Glu143Asp		B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E143D	ENST00000307741.6	37	c.429	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885721	0.17540	.	.	ENSG00000172009	ENST00000307741	T	0.09163	3.01	4.47	0.786	0.18590	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.219354	0.45867	D	0.000321	T	0.08802	0.0218	L	0.55834	1.745	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16188	-1.0411	10	0.21014	T	0.42	-47.5185	6.4531	0.21914	0.1909:0.0:0.6488:0.1603	.	22;143	B4DU96;P52888	.;THOP1_HUMAN	D	143	ENSP00000304467:E143D	ENSP00000304467:E143D	E	+	3	2	THOP1	2747129	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	1.842000	0.39250	0.860000	0.35481	0.563000	0.77884	GAG	THOP1	-	NULL		0.587	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2796129	1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2796129	G	T	2796129	3	4	106	1	0	0	0	0	1	0	0	0	15901	962	34	4	443	4	THOP1	19	2796129	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		2796129	56332854	100	15814										
LPHN1	22859	genome.wustl.edu	37	chr19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ctgtaaggcgcagtgaaagaCgaagatgaagaccccctgga	13	9	0	5	rs536482945		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											150	142	145					19																	14266197		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3283G>A	19.37:g.14266197C>T	ENSP00000340688:p.Val1095Ile		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.V1095I	ENST00000340736.6	37	c.3283	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237123	0.10023	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.41065	1.01;1.01	5.21	4.18	0.49190	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.070788	0.56097	D	0.000027	T	0.13200	0.0320	N	0.01529	-0.815	0.40998	D	0.984908	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	7.6688	0.28447	0.0:0.8111:0.0:0.1889	.	1090;1095	O94910-2;O94910	.;LPHN1_HUMAN	I	1095;1090	ENSP00000340688:V1095I;ENSP00000355328:V1090I	ENSP00000340688:V1095I	V	-	1	0	LPHN1	14127197	0.986000	0.35501	0.984000	0.44739	0.998000	0.95712	2.344000	0.44010	1.184000	0.42957	0.561000	0.74099	GTC	LPHN1	-	pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.587	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14266197	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	missense	SNP	0.998	T	T	14266197	C	T	14266197	3	4	106	1	0	0	0	0	1	0	0	0	8938	536	19	2	1165	2	LPHN1	19	14266197	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	11470068	14266197	44862786	101	15815										
UNC13A	23025	genome.wustl.edu	37	chr19	17716873	17716873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	accgcccgcgctaaggcgcaGgcgcggcaccgccctcctcg	13	20	0	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:17716873G>T	ENST00000519716.2	-	44	5101	c.5102C>A	c.(5101-5103)cCt>cAt	p.P1701H	UNC13A_ENST00000552293.1_Missense_Mutation_p.P1695H|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1674H|UNC13A_ENST00000428389.2_Missense_Mutation_p.P1789H|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1720H|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1701H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1701					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTAAGGCGCAGGCGCGGCACC	0.736																																																	0													7	7	7					19																	17716873		1771	3872	5643	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.5102C>A	19.37:g.17716873G>T	ENSP00000429562:p.Pro1701His		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.P1789H	ENST00000519716.2	37	c.5366	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163443	0.78226	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82433	-1.55;-1.61;-1.55;-1.32;-1.31;-1.54	2.88	2.88	0.33553	.	0.175728	0.25347	U	0.031337	T	0.74107	0.3673	N	0.14661	0.345	0.27679	N	0.946514	P	0.52316	0.952	P	0.48189	0.57	T	0.70189	-0.4940	10	0.72032	D	0.01	-3.8577	11.5816	0.50894	0.0:0.0:1.0:0.0	.	1701	Q9UPW8	UN13A_HUMAN	H	1701;1789;1701;1720;1695;1674	ENSP00000429562:P1701H;ENSP00000400409:P1789H;ENSP00000252773:P1701H;ENSP00000447236:P1720H;ENSP00000447572:P1695H;ENSP00000446831:P1674H	ENSP00000252773:P1701H	P	-	2	0	UNC13A	17577873	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.275000	0.72594	1.617000	0.50277	0.306000	0.20318	CCT	UNC13A	-	NULL		0.736	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17716873	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17716873	G	T	17716873	3	4	106	1	0	0	0	0	1	0	0	0	17015	1000	35	4	13	4	UNC13A	19	17716873	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	3450676	17716873	41412110	102	15816										
ZNF85	7639	genome.wustl.edu	37	chr19	21132636	21132636	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	aaaagcttttaaccaatcctCaaaacttactgaacataaga	3	9	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:21132636C>T	ENST00000328178.8	+	4	1429	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	ZNF85_ENST00000601023.1_Missense_Mutation_p.S380L|ZNF85_ENST00000345030.6_Missense_Mutation_p.S406L	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	439					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACCAATCCTCAAAACTTACT	0.328																																																	0													21	22	22					19																	21132636		2199	4288	6487	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1316C>T	19.37:g.21132636C>T	ENSP00000329793:p.Ser439Leu		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S439L	ENST00000328178.8	37	c.1316	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	6.571	0.473687	0.12521	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07444	3.19;3.19	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20901	0.0503	M	0.62266	1.93	0.09310	N	0.999999	D;D;P	0.65815	0.995;0.967;0.877	P;D;P	0.63597	0.844;0.916;0.667	T	0.04440	-1.0951	9	0.66056	D	0.02	.	9.5712	0.39429	0.0:1.0:0.0:0.0	.	406;380;439	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	L	439;406;314	ENSP00000329793:S439L;ENSP00000342340:S406L	ENSP00000329793:S439L	S	+	2	0	ZNF85	20924476	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.627000	0.05521	0.681000	0.31386	0.462000	0.41574	TCA	ZNF85	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	C	NM_003429		21132636	1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.001	T	T	21132636	C	T	21132636	3	4	106	1	0	0	0	0	1	0	0	0	18223	838	29	1	1330	1	ZNF85	19	21132636	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	3415763	21132636	37996347	103	15817										
ZNF257	113835	genome.wustl.edu	37	chr19	22271011	22271011	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tgtgataaatatgtaaaagtCttctataagttttcaaattc	5	4	3	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:22271011C>G	ENST00000594947.1	+	4	603	c.459C>G	c.(457-459)gtC>gtG	p.V153V	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGTAAAAGTCTTCTATAAGT	0.323																																																	0													47	51	50					19																	22271011		2178	4285	6463	SO:0001819	synonymous_variant	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.459C>G	19.37:g.22271011C>G			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V153	ENST00000594947.1	37	c.459	CCDS46030.1	19																																																																																			ZNF257	-	NULL		0.323	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	C			22271011	1	no_errors	ENST00000594947	ensembl	human	known	70_37	silent	SNP	0.000	G	G	22271011	C	G	22271011	2	3	106	1	0	0	0	0	0	0	0	1	17830	900	32	1		1	ZNF257	19	22271011	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	1138375	22271011	36857972	104	15818										
UBA2	10054	genome.wustl.edu	37	chr19	34936007	34936007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	taaatcaactggatatgatcCagttaaactttttaccaagg	6	7	1	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:34936007C>T	ENST00000246548.4	+	8	822	c.752C>T	c.(751-753)cCa>cTa	p.P251L	UBA2_ENST00000439527.2_Missense_Mutation_p.P155L	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	251					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGATATGATCCAGTTAAACTT	0.343																																																	0													84	84	84					19																	34936007		2203	4300	6503	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.752C>T	19.37:g.34936007C>T	ENSP00000246548:p.Pro251Leu		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.P251L	ENST00000246548.4	37	c.752	CCDS12439.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324894	0.81580	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.58940	0.3;1.46	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.69248	2.105	0.80722	D	1	P	0.47762	0.9	B	0.43575	0.424	T	0.57087	-0.7871	10	0.19147	T	0.46	-12.9338	18.524	0.90965	0.0:1.0:0.0:0.0	.	251	Q9UBT2	SAE2_HUMAN	L	124;251;155	ENSP00000246548:P251L;ENSP00000437484:P155L	ENSP00000246548:P251L	P	+	2	0	UBA2	39627847	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.901000	0.75693	2.736000	0.93811	0.591000	0.81541	CCA	UBA2	-	superfamily_Molybdenum_cofac_synth_MoeB		0.343	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	HGNC	protein_coding	OTTHUMT00000459257.3	C	NM_005499		34936007	1	no_errors	ENST00000246548	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34936007	C	T	34936007	3	4	106	1	0	0	0	0	1	0	0	0	16859	594	21	4	782	4	UBA2	19	34936007	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	12664996	34936007	24192976	105	15819										
ERF	2077	genome.wustl.edu	37	chr19	42752751	42752751	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cttgtcctcaccctcatcctCaaagcccccagcggggcccc	7	21	3	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:42752751C>G	ENST00000222329.4	-	4	1670	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.E430Q	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	505					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCCTCATCCTCAAAGCCCCCA	0.682																																																	0													31	38	36					19																	42752751		2202	4290	6492	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1513G>C	19.37:g.42752751C>G	ENSP00000222329:p.Glu505Gln		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E505Q	ENST00000222329.4	37	c.1513	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977294	0.18812	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.18016	3.24;2.24	4.39	4.39	0.52855	.	1.632570	0.03450	N	0.210471	T	0.10680	0.0261	N	0.08118	0	0.23906	N	0.996504	B	0.23650	0.089	B	0.15870	0.014	T	0.06463	-1.0825	10	0.54805	T	0.06	.	6.4048	0.21658	0.0:0.7145:0.1872:0.0982	.	505	P50548	ERF_HUMAN	Q	505;430	ENSP00000222329:E505Q;ENSP00000388173:E430Q	ENSP00000222329:E505Q	E	-	1	0	ERF	47444591	0.977000	0.34250	0.991000	0.47740	0.940000	0.58332	3.770000	0.55310	2.448000	0.82819	0.561000	0.74099	GAG	ERF	-	NULL		0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42752751	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	missense	SNP	0.849	G	G	42752751	C	G	42752751	3	3	106	1	0	0	0	0	1	0	0	0	5233	835	29	1	137	1	ERF	19	42752751	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	7816744	42752751	16376232	106	15820										
ZNF234	10780	genome.wustl.edu	37	chr19	44662099	44662099	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cacaattacagtatcataggCgagttcacactggggaaaaa	9	8	2	0	rs537418600		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:44662099C>T	ENST00000426739.2	+	6	2188	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.R644*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R644*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTATCATAGGCGAGTTCACAC	0.418													C|||	1	0.000199681	0	0	5008	,	,		20213	0.001		0	False		,,,				2504	0																1	Substitution - Nonsense(1)	prostate(1)											103	108	106					19																	44662099		2165	4282	6447	SO:0001587	stop_gained	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1930C>T	19.37:g.44662099C>T	ENSP00000400878:p.Arg644*		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R644*	ENST00000426739.2	37	c.1930	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.709701	0.97780	.	.	ENSG00000167380	ENST00000426739	.	.	.	4.01	-5.61	0.02489	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1468	0.54028	0.7476:0.1546:0.0978:0.0	.	.	.	.	X	644	.	ENSP00000400878:R644X	R	+	1	2	ZNF226	49353939	0.000000	0.05858	0.002000	0.10522	0.985000	0.73830	-1.319000	0.02702	-0.595000	0.05828	0.585000	0.79938	CGA	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	C			44662099	1	no_errors	ENST00000426739	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	44662099	C	T	44662099	4	4	106	1	0	0	0	0	0	1	0	0	17817	760	27	2	1944	2	ZNF234	19	44662099	Nonsense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	1909348	44662099	14466884	107	15821										
LMTK3	114783	genome.wustl.edu	37	chr19	49001792	49001792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tcggcttctcccggggccccGggagtgggagcggacccggg	19	14	1	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:49001792G>A	ENST00000600059.1	-	11	2761	c.2534C>T	c.(2533-2535)cCg>cTg	p.P845L	LMTK3_ENST00000270238.3_Missense_Mutation_p.P874L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	845	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGGGGCCCCGGGAGTGGGAG	0.716																																																	0													4	4	4					19																	49001792		1697	3876	5573	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2534C>T	19.37:g.49001792G>A	ENSP00000472020:p.Pro845Leu		Q4G0U1	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P874L	ENST00000600059.1	37	c.2621		19	.	.	.	.	.	.	.	.	.	.	G	3.752	-0.051380	0.07407	.	.	ENSG00000142235	ENST00000270238	T	0.79940	-1.32	3.37	3.37	0.38596	.	0.623927	0.13756	N	0.364936	T	0.65626	0.2709	N	0.14661	0.345	0.09310	N	0.999999	B	0.23058	0.079	B	0.08055	0.003	T	0.60692	-0.7213	10	0.72032	D	0.01	.	10.9586	0.47372	0.0:0.0:1.0:0.0	.	845	Q96Q04	LMTK3_HUMAN	L	874	ENSP00000270238:P874L	ENSP00000270238:P874L	P	-	2	0	LMTK3	53693604	0.270000	0.24152	0.064000	0.19789	0.013000	0.08279	0.415000	0.21181	1.852000	0.53769	0.298000	0.19748	CCG	LMTK3	-	smart_Ser/Thr_dual-sp_kinase_dom		0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49001792	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	0.099	A	A	49001792	G	A	49001792	3	1	106	1	0	0	0	0	1	0	0	0	8881	1116	39	2	1868	2	LMTK3	19	49001792	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	4339693	49001792	10127191	108	15822										
ZNF548	147694	genome.wustl.edu	37	chr19	57910879	57910879	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tttaggtaccactgcaggctCattagacaccagagagtcca	9	11	1	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:57910879C>T	ENST00000366197.5	+	3	1474	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.L420L|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGCAGGCTCATTAGACACC	0.443																																																	0													63	64	64					19																	57910879		2203	4300	6503	SO:0001819	synonymous_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1224C>T	19.37:g.57910879C>T			Q96M05	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L420	ENST00000366197.5	37	c.1260	CCDS46209.1	19																																																																																			ZNF548	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	C	NM_152909		57910879	1	no_errors	ENST00000336128	ensembl	human	known	70_37	silent	SNP	0.005	T	T	57910879	C	T	57910879	2	4	106	1	0	0	0	0	0	0	0	1	18010	813	29	1		1	ZNF548	19	57910879	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	8909087	57910879	1218104	109	15823										
SNRPB	6628	genome.wustl.edu	37	chr20	2443795	2443795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cccacggccaggtgggtactGggttggagccccggcaatac	15	13	0	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr20:2443795G>T	ENST00000438552.2	-	5	661	c.499C>A	c.(499-501)Cag>Aag	p.Q167K	SNRPB_ENST00000339610.6_Missense_Mutation_p.Q88K|SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_Missense_Mutation_p.Q167K	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	167					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GGTGGGTACTGGGTTGGAGCC	0.592																																																	0													42	49	47					20																	2443795		2182	4277	6459	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.499C>A	20.37:g.2443795G>T	ENSP00000412566:p.Gln167Lys		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.Q167K	ENST00000438552.2	37	c.499	CCDS13026.1	20	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586775	0.46110	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.42131	0.99;0.98	6.08	6.08	0.98989	.	0.110551	0.64402	D	0.000005	T	0.41789	0.1174	L	0.47716	1.5	0.53688	D	0.999978	B;B;B;B	0.19200	0.017;0.034;0.034;0.01	B;B;B;B	0.16289	0.006;0.015;0.009;0.007	T	0.19257	-1.0311	10	0.87932	D	0	.	18.1573	0.89696	0.0:0.0:1.0:0.0	.	88;167;167;167	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	K	167;167;167;88	ENSP00000370746:Q167K;ENSP00000412566:Q167K	ENSP00000303591:Q167K	Q	-	1	0	SNRPB	2391795	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.232000	0.95325	2.894000	0.99253	0.655000	0.94253	CAG	SNRPB	-	pirsf_snRNP-assoc_SmB/SmN		0.592	SNRPB-002	KNOWN	basic|CCDS	protein_coding	SNRPB	HGNC	protein_coding	OTTHUMT00000077585.2	G			2443795	-1	no_errors	ENST00000438552	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2443795	G	T	2443795	3	4	106	1	0	0	0	0	1	0	0	0	14891	1357	47	4	250	4	SNRPB	20	2443795	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		2443795	60581725	110	15824										
VPS16	64601	genome.wustl.edu	37	chr20	2843296	2843296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cagctgacccaggccgtgcaGcagtgcattgaggctgcagg	15	12	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr20:2843296G>A	ENST00000380445.3	+	12	1215	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Silent_p.Q35Q	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	381					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGGCCGTGCAGCAGTGCATTG	0.657																																																	0													42	46	45					20																	2843296		2203	4300	6503	SO:0001819	synonymous_variant	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1143G>A	20.37:g.2843296G>A			Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.Q381	ENST00000380445.3	37	c.1143	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_N,pirsf_VPS16		0.657	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	G	NM_022575		2843296	1	no_errors	ENST00000380445	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2843296	G	A	2843296	2	1	106	1	0	0	0	0	0	0	0	1	17224	962	34	4		4	VPS16	20	2843296	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	399501	2843296	60182224	111	15825										
DSCAM	1826	genome.wustl.edu	37	chr21	41561046	41561046	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	catctcagggttaatgattcGgtcctccttctcccagcgga	9	13	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr21:41561046G>A	ENST00000400454.1	-	12	2953	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	826	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTAATGATTCGGTCCTCCTTC	0.512																																					Melanoma(134;970 1778 1785 21664 32388)												0													135	137	136					21																	41561046		2011	4159	6170	SO:0001587	stop_gained	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2476C>T	21.37:g.41561046G>A	ENSP00000383303:p.Arg826*		O60468	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R826*	ENST00000400454.1	37	c.2476	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	38	7.072296	0.98044	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.28	0.165	0.14995	.	0.066294	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	16.4875	0.84188	0.0:0.0:0.4542:0.5458	.	.	.	.	X	826;578	.	ENSP00000383303:R826X	R	-	1	2	DSCAM	40482916	0.985000	0.35326	0.988000	0.46212	0.981000	0.71138	1.248000	0.32827	0.072000	0.16694	0.561000	0.74099	CGA	DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41561046	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	nonsense	SNP	0.845	A	A	41561046	G	A	41561046	4	1	106	1	0	0	0	0	0	1	0	0	4778	1124	39	2	3650	2	DSCAM	21	41561046	Nonsense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09		41561046	6568849	112	15826										
C21orf29	54084	genome.wustl.edu	37	chr21	45953608	45953608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gtccgtggtgagggagaagaCgcctgcggacacagccagga	17	10	0	3	rs370848096	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr21:45953608C>T	ENST00000323084.4	-	3	567	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	TSPEAR_ENST00000397916.1_Missense_Mutation_p.V100I	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	168	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGGAGAAGACGCCTGCGGAC	0.697													C|||	2	0.000399361	0	0	5008	,	,		12838	0		0	False		,,,				2504	0.002																0													25	25	25					21																	45953608		2192	4291	6483	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.502G>A	21.37:g.45953608C>T	ENSP00000321987:p.Val168Ile			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.V168I	ENST00000323084.4	37	c.502	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	c	1.389	-0.581309	0.03854	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.43688	0.94;0.94	4.99	-0.667	0.11395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.779066	0.12485	N	0.464779	T	0.15912	0.0383	N	0.03608	-0.345	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.26155	-1.0111	10	0.16896	T	0.51	3.2862	6.7678	0.23576	0.4228:0.2357:0.0:0.3415	.	168	Q8WU66	TSEAR_HUMAN	I	168;100;168	ENSP00000321987:V168I;ENSP00000381012:V100I	ENSP00000321987:V168I	V	-	1	0	TSPEAR	44778036	0.995000	0.38212	0.012000	0.15200	0.000000	0.00434	3.040000	0.49799	-0.754000	0.04715	-2.269000	0.00276	GTC	TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.697	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45953608	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	0.013	T	T	45953608	C	T	45953608	3	4	106	1	0	0	0	0	1	0	0	0	2129	536	19	2	1547	2	C21orf29	21	45953608	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	4392562	45953608	2176287	113	15827										
PATZ1	23598	genome.wustl.edu	37	chr22	31740386	31740387	+	Frame_Shift_Ins	INS	-	-	T													0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	acccatcatgggaccgcacaINStggtaggacatgcggtcttt							TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:31740386_31740387insT	ENST00000266269.5	-	1	1831_1832	c.1202_1203insA	c.(1201-1203)catfs	p.H401fs	PATZ1_ENST00000215919.3_Frame_Shift_Ins_p.H401fs|PATZ1_ENST00000405309.3_Frame_Shift_Ins_p.H401fs|PATZ1_ENST00000351933.4_Frame_Shift_Ins_p.H401fs|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	401					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGGACCGCACATGGTAGGACAT	0.579																																																	0																																										SO:0001589	frameshift_variant	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1203dupA	22.37:g.31740387_31740387dupT	ENSP00000266269:p.His401fs		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H401fs	ENST00000266269.5	37	c.1203_1202	CCDS13894.1	22																																																																																			PATZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.579	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	-	NM_032052		31740387	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	frame_shift_ins	INS	0.961:1.000	T	T	31740387	-	T	31740386	7	5	106	1	0	1	1	0	0	0	0	0	11500	214	8	0	1163	0	PATZ1	22	31740386	Frame_Shift_Ins	INS	-	TCGA-EK-A2RB-01A-11D-A18J-09		31740386	19564180	114	15828										
SYN3	8224	genome.wustl.edu	37	chr22	32924939	32924939	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gagacaacaaggtcggccatCagctgtctgtcctcttccac	9	14	3	1	rs138034081		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:32924939C>T	ENST00000358763.2	-	11	1394	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	SYN3_ENST00000332840.5_Silent_p.L384L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	384	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.L384L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTCGGCCATCAGCTGTCTGT	0.592											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	urinary_tract(1)						C	,,	0,4406		0,0,2203	91	73	79		1149,1152,1152	3	1	22	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	383/580,384/581,384/445	32924939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1152G>A	22.37:g.32924939C>T		836	B1B1F9	Silent	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.L384	ENST00000358763.2	37	c.1152	CCDS13908.1	22																																																																																			SYN3	-	pfam_Synapsin_ATP-bd_dom		0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	C			32924939	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32924939	C	T	32924939	2	4	106	1	0	0	0	0	0	0	0	1	15472	813	29	1		1	SYN3	22	32924939	Silent	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	1184553	32924939	18379627	115	15829										
TRIOBP	11078	genome.wustl.edu	37	chr22	38119251	38119251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	caaggctccggggagaaagcGggttgtccctggagcggcac	17	11	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:38119251G>A	ENST00000406386.3	+	7	943	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	230					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAAAGCGGGTTGTCCCT	0.647																																																	0													30	35	33					22																	38119251		2053	4177	6230	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.688G>A	22.37:g.38119251G>A	ENSP00000384312:p.Gly230Arg		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G230R	ENST00000406386.3	37	c.688	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755843	0.15846	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29917	1.55	4.74	1.45	0.22620	.	.	.	.	.	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.21109	-1.0255	9	0.66056	D	0.02	.	4.2708	0.10785	0.2696:0.0:0.5734:0.157	.	230	Q9H2D6	TARA_HUMAN	R	230	ENSP00000384312:G230R	ENSP00000384312:G230R	G	+	1	0	TRIOBP	36449197	0.006000	0.16342	0.021000	0.16686	0.137000	0.21094	0.354000	0.20146	0.456000	0.26937	-0.381000	0.06696	GGG	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38119251	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.001	A	A	38119251	G	A	38119251	3	1	106	1	0	0	0	0	1	0	0	0	16584	1116	39	2	706	2	TRIOBP	22	38119251	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	5194312	38119251	13185315	116	15830										
ZC3H7B	23264	genome.wustl.edu	37	chr22	41752398	41752398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gctgaaaaaacacaacccagGaaagcctggagaagggaccc	11	11	0	2			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:41752398G>A	ENST00000352645.4	+	21	2692	c.2435G>A	c.(2434-2436)gGa>gAa	p.G812E	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G812E	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	828					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CACAACCCAGGAAAGCCTGGA	0.597																																																	0													143	134	137					22																	41752398		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2435G>A	22.37:g.41752398G>A	ENSP00000345793:p.Gly812Glu		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G812E	ENST00000352645.4	37	c.2435	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339981	0.11069	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.11063	2.81;2.81	5.05	5.05	0.67936	.	0.356387	0.30949	N	0.008543	T	0.05090	0.0136	N	0.05306	-0.075	0.37563	D	0.919153	B	0.25521	0.128	B	0.25405	0.06	T	0.36939	-0.9727	10	0.08837	T	0.75	-29.213	12.202	0.54331	0.0787:0.0:0.9213:0.0	.	812	Q9UGR2-2	.	E	812	ENSP00000345793:G812E;ENSP00000263243:G812E	ENSP00000263243:G812E	G	+	2	0	ZC3H7B	40082344	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.608000	0.46308	2.529000	0.85273	0.655000	0.94253	GGA	ZC3H7B	-	NULL		0.597	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	G	NM_017590		41752398	1	no_errors	ENST00000351589	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41752398	G	A	41752398	3	1	106	1	0	0	0	0	1	0	0	0	17603	1174	41	1	2513	1	ZC3H7B	22	41752398	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	3633147	41752398	9552168	117	15831										
CD99	4267	genome.wustl.edu	37	chrX	2638398	2638398	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tctcatctttcacaaacagaCgacccacgaccaccgaaccc	4	18	3	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:2638398C>T	ENST00000381192.3	+	5	377	c.195C>T	c.(193-195)gaC>gaT	p.D65D	CD99_ENST00000381187.3_Splice_Site_p.D49D|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Splice_Site_p.D65D	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	65					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CACAAACAGACGACCCACGAC	0.468																																																	0								T	,	4,4402		0,4,2199	411	413	412		147,195	-2	0	X	dbSNP_134	412	1,8591		0,1,4295	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CD99	NM_001122898.1,NM_002414.3	,	0,5,6494	TT,TC,CC		0.0116,0.0908,0.0385	,	49/170,65/186	2638398	5,12993	2203	4296	6499	SO:0001630	splice_region_variant	4267			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"Pseudoautosomal regions / PAR1", "CD molecules"	7082	protein-coding gene	gene with protein product		313470, 450000	"antigen identified by monoclonal antibodies 12E7, F21 and O13", "CD99 antigen"	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.194-1C>T	X.37:g.2638398C>T			A6NIW1|O00518|Q6ICV7	Silent	SNP	pfam_CD99L2	p.D65	ENST00000381192.3	37	c.195	CCDS14119.1	X																																																																																			CD99	-	pfam_CD99L2		0.468	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	C	NM_001122898	Silent	2638398	1	no_errors	ENST00000381192	ensembl	human	known	70_37	silent	SNP	0.013	T	T	2638398	C	T	2638398	5	4	106	1	0	0	0	0	0	0	1	0	3055	550	19	2	213	2	CD99	23	2638398	Splice_Site	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09		2638398	152632162	118	15832										
DMD	1756	genome.wustl.edu	37	chrX	32459402	32459402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tttgctttctccaagtatgaCaataactcatgccaacatgc	5	11	2	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:32459402C>A	ENST00000357033.4	-	28	4022	c.3816G>T	c.(3814-3816)ttG>ttT	p.L1272F	DMD_ENST00000378677.2_Missense_Mutation_p.L1268F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1272					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAAGTATGACAATAACTCAT	0.343																																																	0													73	74	73					X																	32459402		2201	4299	6500	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3816G>T	X.37:g.32459402C>A	ENSP00000354923:p.Leu1272Phe		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.L1272F	ENST00000357033.4	37	c.3816	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269402	0.59540	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.18810	2.19;2.19	5.06	3.17	0.36434	.	0.000000	0.29040	U	0.013334	T	0.37705	0.1013	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.987	D;D;P	0.85130	0.914;0.997;0.823	T	0.16424	-1.0403	10	0.28530	T	0.3	.	4.9194	0.13862	0.0:0.5936:0.1646:0.2418	.	1264;1272;1268	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	F	1264;1268;1272;1272;1149	ENSP00000367948:L1268F;ENSP00000354923:L1272F	ENSP00000354923:L1272F	L	-	3	2	DMD	32369323	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.032000	0.30178	2.081000	0.62600	0.600000	0.82982	TTG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32459402	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.999	A	A	32459402	C	A	32459402	3	1	106	1	0	0	0	0	1	0	0	0	4590	477	17	4	7692	4	DMD	23	32459402	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	29821004	32459402	122811158	119	15833										
OTC	5009	genome.wustl.edu	37	chrX	38271134	38271134	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gactgctaaagttgctgcctCtgactggacatttttacact	8	10	1	1	rs72558459		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:38271134C>G	ENST00000039007.4	+	9	1039	c.887C>G	c.(886-888)tCt>tGt	p.S296C	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	296					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTTGCTGCCTCTGACTGGACA	0.403																																																	0													166	147	154					X																	38271134		2202	4300	6502	SO:0001583	missense	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.887C>G	X.37:g.38271134C>G	ENSP00000039007:p.Ser296Cys		A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans	p.S296C	ENST00000039007.4	37	c.887	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962558	0.74016	.	.	ENSG00000036473	ENST00000039007	D	0.99032	-5.35	5.0	5.0	0.66597	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.320605	0.37178	N	0.002215	D	0.98485	0.9495	M	0.79123	2.44	0.46260	D	0.998954	D	0.55605	0.972	P	0.45195	0.473	D	0.99813	1.1042	10	0.87932	D	0	-13.498	17.7347	0.88389	0.0:1.0:0.0:0.0	.	296	P00480	OTC_HUMAN	C	296	ENSP00000039007:S296C	ENSP00000039007:S296C	S	+	2	0	OTC	38156078	1.000000	0.71417	0.963000	0.40424	0.886000	0.51366	7.285000	0.78660	2.205000	0.71048	0.594000	0.82650	TCT	OTC	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans		0.403	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	C			38271134	1	no_errors	ENST00000039007	ensembl	human	known	70_37	missense	SNP	0.969	G	G	38271134	C	G	38271134	3	3	106	1	0	0	0	0	1	0	0	0	11325	913	32	1	921	1	OTC	23	38271134	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	5811732	38271134	116999426	120	15834										
SUV39H1	6839	genome.wustl.edu	37	chrX	48558713	48558713	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gggcgctccgtcgctgggagCaggagctcaatgccaagcgc	16	13	1	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:48558713C>A	ENST00000376687.3	+	3	587	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	SUV39H1_ENST00000337852.6_Missense_Mutation_p.Q144K|SUV39H1_ENST00000453214.2_Intron|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	133					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCGCTGGGAGCAGGAGCTCAA	0.637																																																	0													33	29	31					X																	48558713		2200	4300	6500	SO:0001583	missense	6839			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.397C>A	X.37:g.48558713C>A	ENSP00000365877:p.Gln133Lys		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.Q144K	ENST00000376687.3	37	c.430	CCDS14304.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.45|12.45	1.940624|1.940624	0.34283|0.34283	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000448548|ENST00000337852;ENST00000376687	.|D;D	.|0.93953	.|-3.32;-3.32	4.82|4.82	3.92|3.92	0.45320|0.45320	.|Pre-SET zinc-binding sub-group (1);	.|0.376292	.|0.27866	.|N	.|0.017529	D|D	0.86719|0.86719	0.6000|0.6000	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.78262|0.78262	-0.2272|-0.2272	6|10	0.02654|0.10377	T|T	1|0.69	.|.	7.53|7.53	0.27677|0.27677	0.1841:0.64:0.176:0.0|0.1841:0.64:0.176:0.0	.|.	.|144;133	.|B4DST0;O43463	.|.;SUV91_HUMAN	E|K	132|144;133	.|ENSP00000337976:Q144K;ENSP00000365877:Q133K	ENSP00000410043:A132E|ENSP00000337976:Q144K	A|Q	+|+	2|1	0|0	SUV39H1|SUV39H1	48443657|48443657	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.700000|0.700000	0.40528|0.40528	0.034000|0.034000	0.13776|0.13776	1.972000|1.972000	0.57404|0.57404	0.502000|0.502000	0.49764|0.49764	GCA|CAG	SUV39H1	-	smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase		0.637	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	HGNC	protein_coding	OTTHUMT00000058909.1	C	NM_003173		48558713	1	no_errors	ENST00000337852	ensembl	human	known	70_37	missense	SNP	0.997	A	A	48558713	C	A	48558713	3	1	106	1	0	0	0	0	1	0	0	0	15442	711	25	4	407	4	SUV39H1	23	48558713	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	10287579	48558713	106711847	121	15835										
CCDC22	28952	genome.wustl.edu	37	chrX	49104953	49104953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	cccactcctcgctgagtaccGccacctccgaaagctgcagg	9	18	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:49104953G>A	ENST00000376227.3	+	11	1468	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	433										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCTGAGTACCGCCACCTCCGA	0.662																																																	0													30	26	27					X																	49104953		2200	4299	6499	SO:0001583	missense	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1298G>A	X.37:g.49104953G>A	ENSP00000365401:p.Arg433His		A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.R433H	ENST00000376227.3	37	c.1298	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878249	0.91664	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82768	-0.0294	9	0.87932	D	0	-9.8513	16.5047	0.84268	0.0:0.0:1.0:0.0	.	433	O60826	CCD22_HUMAN	H	433	.	ENSP00000365401:R433H	R	+	2	0	CCDC22	48991897	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.301000	0.89951	2.240000	0.73641	0.436000	0.28706	CGC	CCDC22	-	pfam_DUF812		0.662	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	G	NM_014008		49104953	1	no_errors	ENST00000376227	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49104953	G	A	49104953	3	1	106	1	0	0	0	0	1	0	0	0	2802	1087	38	2	1340	2	CCDC22	23	49104953	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	546240	49104953	106165607	122	15836										
USP51	158880	genome.wustl.edu	37	chrX	55515182	55515182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tctcctccggcgcgggctcaCgctcttgtaatggctccagc	11	16	3	0			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:55515182C>T	ENST00000500968.3	-	2	273	c.191G>A	c.(190-192)cGt>cAt	p.R64H	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	64					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CGCGGGCTCACGCTCTTGTAA	0.642																																																	0													31	30	31					X																	55515182		2203	4299	6502	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.191G>A	X.37:g.55515182C>T	ENSP00000423333:p.Arg64His		Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R64H	ENST00000500968.3	37	c.191	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	0.216	-1.032326	0.02029	.	.	ENSG00000247746	ENST00000500968	T	0.43688	0.94	2.52	-5.05	0.02955	.	.	.	.	.	T	0.13072	0.0317	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08006	-1.0743	9	0.35671	T	0.21	.	0.7911	0.01057	0.2175:0.1299:0.2536:0.399	.	64	Q70EK9	UBP51_HUMAN	H	64	ENSP00000423333:R64H	ENSP00000423333:R64H	R	-	2	0	USP51	55531907	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.928000	0.00332	-4.162000	0.00068	-0.711000	0.03637	CGT	USP51	-	NULL		0.642	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55515182	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55515182	C	T	55515182	3	4	106	1	0	0	0	0	1	0	0	0	17114	536	19	2	1948	2	USP51	23	55515182	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	6410229	55515182	99755378	123	15837										
CENPI	2491	genome.wustl.edu	37	chrX	100356281	100356281	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	atggcagtgggatattttgaGaaaggtaaaggtggattgtt	15	1	0	1			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:100356281G>A	ENST00000372927.1	+	2	499	c.222G>A	c.(220-222)gaG>gaA	p.E74E	CENPI_ENST00000372926.1_Silent_p.E74E|CENPI_ENST00000423383.1_Silent_p.E74E|CENPI_ENST00000218507.5_Silent_p.E74E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	74					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GATATTTTGAGAAAGGTAAAG	0.328																																																	0													142	128	133					X																	100356281		2203	4300	6503	SO:0001819	synonymous_variant	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.222G>A	X.37:g.100356281G>A			Q5JWZ9|Q96ED0	Silent	SNP	pfam_Centromere_CenpI	p.E74	ENST00000372927.1	37	c.222	CCDS14479.1	X																																																																																			CENPI	-	pfam_Centromere_CenpI		0.328	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	G	NM_006733		100356281	1	no_errors	ENST00000372927	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100356281	G	A	100356281	2	1	106	1	0	0	0	0	0	0	0	1	3238	933	33	1		1	CENPI	23	100356281	Silent	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	44841099	100356281	54914279	124	15838										
TBC1D8B	54885	genome.wustl.edu	37	chrX	106116848	106116848	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	tctataacttatttcatgagGaccctgaagaagaatcatta	6	7	3	4			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:106116848G>C	ENST00000357242.5	+	21	3190	c.3016G>C	c.(3016-3018)Gac>Cac	p.D1006H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D1000H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1006							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTTCATGAGGACCCTGAAGA	0.358																																																	0													98	98	98					X																	106116848		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3016G>C	X.37:g.106116848G>C	ENSP00000349781:p.Asp1006His		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.D1006H	ENST00000357242.5	37	c.3016	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569175	0.45798	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.09911	2.93;2.93	5.72	3.84	0.44239	.	0.175255	0.48286	D	0.000195	T	0.14743	0.0356	M	0.74467	2.265	0.44771	D	0.997775	B	0.30741	0.293	B	0.28385	0.089	T	0.02371	-1.1169	10	0.66056	D	0.02	-7.0931	11.1009	0.48174	0.0832:0.1397:0.777:0.0	.	1006	Q0IIM8	TBC8B_HUMAN	H	1006;1000	ENSP00000349781:D1006H;ENSP00000276175:D1000H	ENSP00000276175:D1000H	D	+	1	0	TBC1D8B	106003504	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	5.302000	0.65733	1.162000	0.42619	0.594000	0.82650	GAC	TBC1D8B	-	NULL		0.358	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	G	NM_017752		106116848	1	no_errors	ENST00000357242	ensembl	human	known	70_37	missense	SNP	0.993	C	C	106116848	G	C	106116848	3	2	106	1	0	0	0	0	1	0	0	0	15656	1174	41	1	3164	1	TBC1D8B	23	106116848	Missense_Mutation	SNP	G	TCGA-EK-A2RB-01A-11D-A18J-09	5760567	106116848	49153712	125	15839										
DOCK11	139818	genome.wustl.edu	37	chrX	117739291	117739292	+	Missense_Mutation	DNP	GA	GA	AT													0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	ttctcacaaatatgacccatGaagatgacgttcctatcaac							TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:117739291_117739292GA>AT	ENST00000276202.7	+	24	2716_2717	c.2653_2654GA>AT	c.(2653-2655)GAa>ATa	p.E885I	DOCK11_ENST00000276204.6_Missense_Mutation_p.E885I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	885					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATGACCCATGAAGATGACGTT	0.342																																																	0																																										SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	Exception_encountered	X.37:g.117739291_117739292delinsAT	ENSP00000276202:p.Glu885Ile		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E885K|p.E885V	ENST00000276202.7	37	c.2653|c.2654	CCDS35373.1	X																																																																																			DOCK11	-	NULL		0.342	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G|A	NM_144658		117739291|117739292	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A|T	AT	117739292	GA	AT	117739291	3	1	106	1	0	0	0	0	1	0	0	0	4696	1291	45	1	2747	1	DOCK11	23	117739291	Missense_Mutation	DNP	GA	TCGA-EK-A2RB-01A-11D-A18J-09	11622443	117739291	37531269	126	15840										
IDS	3423	genome.wustl.edu	37	chrX	148585791	148585791	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.251968503937008	32	9.29359628873336e-07	2.5282682361334	5.15661375661376	1.9954954954955	0.0375273695022627	0.121338494723983	19	gcccagggaggggcgcaggtCatccacgatgatgagaagaa	16	9	1	3			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:148585791C>T	ENST00000340855.6	-	2	345	c.136G>A	c.(136-138)Gac>Aac	p.D46N	IDS_ENST00000370441.4_Missense_Mutation_p.D46N|IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000428056.2_Missense_Mutation_p.D46N|IDS_ENST00000427113.2_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.D46N	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	46					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGCGCAGGTCATCCACGATG	0.552																																																	0													84	56	65					X																	148585791		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.136G>A	X.37:g.148585791C>T	ENSP00000339801:p.Asp46Asn		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D46N	ENST00000340855.6	37	c.136	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886927	0.91814	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99933	-8.24;-8.24;-8.24;-8.24;-4.62	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95455	0.8538	10	0.87932	D	0	.	15.4351	0.75140	0.0:1.0:0.0:0.0	.	46;46;46	O60597;P22304-2;P22304	.;.;IDS_HUMAN	N	46	ENSP00000339801:D46N;ENSP00000359470:D46N;ENSP00000359472:D46N;ENSP00000390241:D46N;ENSP00000429745:D46N	ENSP00000339801:D46N	D	-	1	0	IDS	148393695	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.186000	0.77722	1.824000	0.53156	0.436000	0.28706	GAC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.552	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148585791	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148585791	C	T	148585791	3	4	106	1	0	0	0	0	1	0	0	0	7523	826	29	1	1578	1	IDS	23	148585791	Missense_Mutation	SNP	C	TCGA-EK-A2RB-01A-11D-A18J-09	30846500	148585791	6684769	127	15841										
MIB2	142678	genome.wustl.edu	37	chr1	1551903	1551903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cacagggttggaagcccagcGaggctagaggccagtcccaa	14	12	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:1551903G>A	ENST00000357210.4	+	2	235	c.19G>A	c.(19-21)Gag>Aag	p.E7K	MIB2_ENST00000378708.1_5'Flank|RP11-345P4.9_ENST00000607222.1_RNA|MIB2_ENST00000355826.5_Missense_Mutation_p.E64K|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.E64K|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000520777.1_Missense_Mutation_p.E64K|MIB2_ENST00000505820.2_Missense_Mutation_p.E64K|MIB2_ENST00000360522.4_Missense_Mutation_p.E7K|MIB2_ENST00000378710.3_Missense_Mutation_p.E7K	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	7					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGCCCAGCGAGGCTAGAGG	0.697																																																	0													20	26	24					1																	1551903		1911	4137	6048	SO:0001583	missense	142678			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.19G>A	1.37:g.1551903G>A	ENSP00000349741:p.Glu7Lys		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.E64K	ENST00000357210.4	37	c.190		1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471431	0.43942	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820	T;T;T;T;T;T;T	0.35236	1.37;1.37;1.33;1.33;1.32;1.36;1.37	2.46	-2.97	0.05530	.	.	.	.	.	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22487	-1.0215	9	0.30854	T	0.27	.	7.6899	0.28561	0.3391:0.0:0.6609:0.0	.	64;64;7;7	E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;MIB2_HUMAN	K	64;7;7;7;64;64;64	ENSP00000428660:E64K;ENSP00000349741:E7K;ENSP00000353713:E7K;ENSP00000367982:E7K;ENSP00000348081:E64K;ENSP00000428264:E64K;ENSP00000426103:E64K	ENSP00000348081:E64K	E	+	1	0	MIB2	1541766	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-1.237000	0.02922	-0.637000	0.05516	0.306000	0.20318	GAG	MIB2	-	NULL		0.697	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	MIB2	HGNC	protein_coding		G	NM_080875		1551903	1	no_errors	ENST00000505820	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1551903	G	A	1551903	3	1	107	1	0	0	0	0	1	0	0	0	9590	1059	37	1	196	1	MIB2	1	1551903	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		1551903	247698718	1	15842										
AADACL3	126767	genome.wustl.edu	37	chr1	12785847	12785847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgggagtgcccgtgacctggCaccatatggaggatggtttc	15	9	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:12785847C>A	ENST00000359318.5	+	4	1142	c.937C>A	c.(937-939)Cac>Aac	p.H313N	AADACL3_ENST00000332530.3_Missense_Mutation_p.H243N	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	313							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGACCTGGCACCATATGGA	0.502																																																	0													72	71	71					1																	12785847		1980	4146	6126	SO:0001583	missense	126767				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.937C>A	1.37:g.12785847C>A	ENSP00000352268:p.His313Asn		B3KXR9|Q5VUY1	Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.H313N	ENST00000359318.5	37	c.937	CCDS41253.1	1	.	.	.	.	.	.	.	.	.	.	C	6.527	0.465450	0.12402	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.54	0.34	0.15985	Alpha/beta hydrolase fold-3 (1);	0.779397	0.12669	N	0.448946	T	0.25494	0.0620	M	0.70787	2.145	0.22620	N	0.998921	D;B	0.64830	0.994;0.321	D;B	0.67103	0.949;0.187	T	0.13229	-1.0517	10	0.27785	T	0.31	-5.5756	9.7012	0.40187	0.0:0.4067:0.0:0.5933	.	313;243	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	N	243;313	ENSP00000333352:H243N;ENSP00000352268:H313N	ENSP00000333352:H243N	H	+	1	0	AADACL3	12708434	0.849000	0.29639	0.084000	0.20598	0.060000	0.15804	0.262000	0.18460	-0.197000	0.10350	-0.339000	0.08088	CAC	AADACL3	-	pfam_AB_hydrolase_3		0.502	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL3	HGNC	protein_coding	OTTHUMT00000005324.2	C	NM_001103170		12785847	1	no_errors	ENST00000359318	ensembl	human	known	70_37	missense	SNP	0.197	A	A	12785847	C	A	12785847	3	1	107	1	0	0	0	0	1	0	0	0	12	710	25	4	955	4	AADACL3	1	12785847	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	11233944	12785847	236464774	2	15843										
PRAMEF7	441871	genome.wustl.edu	37	chr1	12979858	12979858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gagcaagttgtggccaccctGcagaccctggacttagagga	13	11	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:12979858G>A	ENST00000361079.2	+	4	1133	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	350					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCACCCTGCAGACCCTGG	0.592																																																	0													37	33	34					1																	12979858		1524	3185	4709	SO:0001819	synonymous_variant	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1050G>A	1.37:g.12979858G>A			B9EIP0	Silent	SNP	NULL	p.L350	ENST00000361079.2	37	c.1050	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL		0.592	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		G	NM_001012277		12979858	1	no_errors	ENST00000330881	ensembl	human	known	70_37	silent	SNP	0.493	A	A	12979858	G	A	12979858	2	1	107	1	0	0	0	0	0	0	0	1	12466	1306	46	4		4	PRAMEF7	1	12979858	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	194011	12979858	236270763	3	15844										
UBR4	23352	genome.wustl.edu	37	chr1	19504090	19504090	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctcaactcctggatgatctgGacaaaaagcgacaatatggc	9	10	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:19504090G>A	ENST00000375254.3	-	19	2529	c.2502C>T	c.(2500-2502)gtC>gtT	p.V834V	UBR4_ENST00000375267.2_Silent_p.V834V|UBR4_ENST00000375217.2_Silent_p.V834V|UBR4_ENST00000375226.2_Silent_p.V834V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	834					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGATGATCTGGACAAAAAGCG	0.502																																																	0													106	101	103					1																	19504090		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2502C>T	1.37:g.19504090G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V834	ENST00000375254.3	37	c.2502	CCDS189.1	1																																																																																			UBR4	-	NULL		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19504090	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19504090	G	A	19504090	2	1	107	1	0	0	0	0	0	0	0	1	16935	1161	41	1		1	UBR4	1	19504090	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	6524232	19504090	229746531	4	15845										
TMCO4	255104	genome.wustl.edu	37	chr1	20107215	20107215	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctcagctaccagaggctgctGaggcagcctctggcatggcc	13	14	2	2	rs534456252		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:20107215G>T	ENST00000294543.6	-	4	278	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13K|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		14956	0		0	False		,,,				2504	0																0													15	18	17					1																	20107215		2194	4283	6477	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.37C>A	1.37:g.20107215G>T	ENSP00000294543:p.Gln13Lys		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.Q13K	ENST00000294543.6	37	c.37	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064700	0.01934	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.28666	1.6;1.62;1.61	1.05	1.05	0.20165	.	0.590539	0.15276	N	0.270955	T	0.13500	0.0327	N	0.22421	0.69	0.23376	N	0.997801	B;B	0.24186	0.006;0.099	B;B	0.15484	0.001;0.013	T	0.30031	-0.9992	10	0.05721	T	0.95	.	5.4583	0.16602	0.0:0.0:1.0:0.0	.	13;13	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	K	13	ENSP00000294543:Q13K;ENSP00000364269:Q13K;ENSP00000364264:Q13K	ENSP00000294543:Q13K	Q	-	1	0	TMCO4	19979802	0.280000	0.24249	0.792000	0.32020	0.065000	0.16274	1.092000	0.30927	0.849000	0.35215	0.462000	0.41574	CAG	TMCO4	-	NULL		0.607	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	G	NM_181719		20107215	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	missense	SNP	0.927	T	T	20107215	G	T	20107215	3	4	107	1	0	0	0	0	1	0	0	0	16028	1299	45	3	1919	3	TMCO4	1	20107215	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	603125	20107215	229143406	5	15846										
PSMB2	5690	genome.wustl.edu	37	chr1	36107024	36107024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggggccttggataccgatgaGgtactccatggtggcggaag	17	8	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:36107024G>A	ENST00000373237.3	-	1	421	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	ATACCGATGAGGTACTCCATG	0.622																																																	0													44	42	43					1																	36107024		2203	4300	6503	SO:0001583	missense	5690			D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"Proteasome (prosome, macropain) subunits"	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.10C>T	1.37:g.36107024G>A	ENSP00000362334:p.Leu4Phe		D3DPS0|P31145|Q9BWZ9	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.L4F	ENST00000373237.3	37	c.10	CCDS394.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622867	0.87460	.	.	ENSG00000126067	ENST00000373237	T	0.26518	1.73	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.85710	2.77	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.966;0.981;0.992	T	0.62388	-0.6865	10	0.72032	D	0.01	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	4;4;36	B7Z478;P49721;Q59FJ0	.;PSB2_HUMAN;.	F	4	ENSP00000362334:L4F	ENSP00000362334:L4F	L	-	1	0	PSMB2	35879611	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	5.208000	0.65203	2.804000	0.96469	0.655000	0.94253	CTC	PSMB2	-	NULL		0.622	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB2	HGNC	protein_coding	OTTHUMT00000012016.1	G	NM_002794		36107024	-1	no_errors	ENST00000373237	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36107024	G	A	36107024	3	1	107	1	0	0	0	0	1	0	0	0	12704	1000	35	4	619	4	PSMB2	1	36107024	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	15999809	36107024	213143597	6	15847										
TIE1	7075	genome.wustl.edu	37	chr1	43785150	43785150	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gggcgtctccctgtgcgctgGatggccattgagtccctgaa	14	12	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:43785150G>C	ENST00000372476.3	+	19	3136	c.3057G>C	c.(3055-3057)tgG>tgC	p.W1019C	TIE1_ENST00000433781.2_Missense_Mutation_p.W664C|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1019	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTGCGCTGGATGGCCATTG	0.587																																																	0													188	167	174					1																	43785150		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3057G>C	1.37:g.43785150G>C	ENSP00000361554:p.Trp1019Cys		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W1019C	ENST00000372476.3	37	c.3057	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678515	0.88542	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.72282	-0.64;-0.64	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36703	N	0.002460	D	0.90297	0.6965	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92908	0.6345	10	0.87932	D	0	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	974;664;1019	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	C	1019;422;302;664	ENSP00000361554:W1019C;ENSP00000411728:W664C	ENSP00000361553:W422C	W	+	3	0	TIE1	43557737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.605000	0.98321	2.720000	0.93068	0.655000	0.94253	TGG	TIE1	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43785150	1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43785150	G	C	43785150	3	2	107	1	0	0	0	0	1	0	0	0	15923	1183	41	1	3131	1	TIE1	1	43785150	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	7678126	43785150	205465471	7	15848										
PRKAA2	5563	genome.wustl.edu	37	chr1	57158046	57158046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gataggttgaagagatggaaGccaggcggctctttcagcag	15	7	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:57158046G>A	ENST00000371244.4	+	4	412	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGAGATGGAAGCCAGGCGGCT	0.493																																																	0													168	163	165					1																	57158046		2203	4300	6503	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.346G>A	1.37:g.57158046G>A	ENSP00000360290:p.Ala116Thr		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A116T	ENST00000371244.4	37	c.346	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.123694	0.94429	.	.	ENSG00000162409	ENST00000371244	T	0.68025	-0.3	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049701	0.85682	D	0.000000	T	0.80325	0.4602	M	0.67625	2.065	0.80722	D	1	D	0.67145	0.996	D	0.64237	0.923	T	0.82112	-0.0618	10	0.87932	D	0	-18.1428	19.2667	0.93990	0.0:0.0:1.0:0.0	.	116	P54646	AAPK2_HUMAN	T	116	ENSP00000360290:A116T	ENSP00000360290:A116T	A	+	1	0	PRKAA2	56930634	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.436000	0.66538	2.553000	0.86117	0.585000	0.79938	GCC	PRKAA2	-	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		0.493	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	G	NM_006252		57158046	1	no_errors	ENST00000371244	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57158046	G	A	57158046	3	1	107	1	0	0	0	0	1	0	0	0	12521	971	34	4	360	4	PRKAA2	1	57158046	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	13372896	57158046	192092575	8	15849										
BARHL2	343472	genome.wustl.edu	37	chr1	91182448	91182448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcaaaggctgcaaactttgcGtcggggccgcggccggcggc	17	13	0	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:91182448G>A	ENST00000370445.4	-	1	346	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	102	Gln/Pro-rich.				cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAAACTTTGCGTcggggccgc	0.746																																					GBM(199;3561 4100 22440)												0													5	7	6					1																	91182448		2034	4053	6087	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.305C>T	1.37:g.91182448G>A	ENSP00000359474:p.Thr102Met		A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.T102M	ENST00000370445.4	37	c.305	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600238	0.46423	.	.	ENSG00000143032	ENST00000370445	T	0.21932	1.98	6.02	6.02	0.97574	.	0.391617	0.21884	N	0.067681	T	0.07458	0.0188	N	0.14661	0.345	0.22675	N	0.998861	B	0.30870	0.298	B	0.31442	0.13	T	0.20075	-1.0286	10	0.42905	T	0.14	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	102	Q9NY43	BARH2_HUMAN	M	102	ENSP00000359474:T102M	ENSP00000359474:T102M	T	-	2	0	BARHL2	90955036	0.974000	0.33945	0.993000	0.49108	0.966000	0.64601	0.055000	0.14229	2.857000	0.98124	0.650000	0.86243	ACG	BARHL2	-	NULL		0.746	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	G			91182448	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	missense	SNP	0.991	A	A	91182448	G	A	91182448	3	1	107	1	0	0	0	0	1	0	0	0	1315	1145	40	2	870	2	BARHL2	1	91182448	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	34024402	91182448	158068173	9	15850										
ABCA4	24	genome.wustl.edu	37	chr1	94486804	94486804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtggtggcttacactgtaatCtctgagagctgctccttggt	12	9	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:94486804C>G	ENST00000370225.3	-	35	5096	c.5010G>C	c.(5008-5010)gaG>gaC	p.E1670D	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1670					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACACTGTAATCTCTGAGAGCT	0.552																																																	0													193	185	188					1																	94486804		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5010G>C	1.37:g.94486804C>G	ENSP00000359245:p.Glu1670Asp		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E1670D	ENST00000370225.3	37	c.5010	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114107	0.37339	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.91068	-2.78	5.24	3.36	0.38483	.	0.158738	0.56097	N	0.000040	T	0.80969	0.4726	M	0.65498	2.005	0.80722	D	1	B	0.12013	0.005	B	0.20955	0.032	T	0.77330	-0.2628	10	0.45353	T	0.12	.	5.9046	0.18986	0.0:0.6263:0.1458:0.2279	.	1670	P78363	ABCA4_HUMAN	D	462;1670	ENSP00000359245:E1670D	ENSP00000359245:E1670D	E	-	3	2	ABCA4	94259392	0.981000	0.34729	0.905000	0.35620	0.883000	0.51084	0.233000	0.17911	0.770000	0.33336	0.655000	0.94253	GAG	ABCA4	-	tigrfam_Rim_ABC_transpt		0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94486804	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94486804	C	G	94486804	3	3	107	1	0	0	0	0	1	0	0	0	34	912	32	1	1875	1	ABCA4	1	94486804	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	3304356	94486804	154763817	10	15851										
ABCA4	24	genome.wustl.edu	37	chr1	94487408	94487408	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtctgtttacataccccgctCacattcatgatccggccaag	7	14	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:94487408C>G	ENST00000370225.3	-	33	4853	c.4767G>C	c.(4765-4767)gtG>gtC	p.V1589V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1589					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATACCCCGCTCACATTCATGA	0.443																																																	0													62	66	65					1																	94487408		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4767G>C	1.37:g.94487408C>G			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.V1589	ENST00000370225.3	37	c.4767	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt		0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94487408	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	silent	SNP	0.999	G	G	94487408	C	G	94487408	2	3	107	1	0	0	0	0	0	0	0	1	34	813	29	1		1	ABCA4	1	94487408	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	604	94487408	154763213	11	15852										
PTGFRN	5738	genome.wustl.edu	37	chr1	117509918	117509918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cgagaagcagcaaccagtctCtccaatcctattgagataga	8	11	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:117509918C>T	ENST00000393203.2	+	6	2172	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	675					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACCAGTCTCTCCAATCCTA	0.537																																																	0													52	53	52					1																	117509918		2203	4300	6503	SO:0001819	synonymous_variant	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2025C>T	1.37:g.117509918C>T			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L675	ENST00000393203.2	37	c.2025	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509918	1	no_errors	ENST00000393203	ensembl	human	known	70_37	silent	SNP	0.988	T	T	117509918	C	T	117509918	2	4	107	1	0	0	0	0	0	0	0	1	12778	900	32	1		1	PTGFRN	1	117509918	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	23022510	117509918	131740703	12	15853										
TTF2	8458	genome.wustl.edu	37	chr1	117638784	117638784	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tttccagtgtcattgtctctCagtggaccaacatgctgaaa	8	10	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:117638784C>T	ENST00000369466.4	+	20	3093	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1017	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CATTGTCTCTCAGTGGACCAA	0.413																																																	0													100	91	94					1																	117638784		2203	4300	6503	SO:0001587	stop_gained	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3049C>T	1.37:g.117638784C>T	ENSP00000358478:p.Gln1017*		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1017*	ENST00000369466.4	37	c.3049	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.572236	0.99430	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.1	5.1	0.69264	.	0.000000	0.35585	N	0.003105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4834	16.061	0.80838	0.0:1.0:0.0:0.0	.	.	.	.	X	1017	.	ENSP00000358478:Q1017X	Q	+	1	0	TTF2	117440307	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.320000	0.79064	2.664000	0.90586	0.455000	0.32223	CAG	TTF2	-	pfscan_Helicase_C		0.413	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	C			117638784	1	no_errors	ENST00000369466	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	117638784	C	T	117638784	4	4	107	1	0	0	0	0	0	1	0	0	16750	827	29	1	3127	1	TTF2	1	117638784	Nonsense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	128866	117638784	131611837	13	15854										
SCAMP3	10067	genome.wustl.edu	37	chr1	155231477	155231477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctcaaaagggttgtagacgtCaagcgtggcatactgccggc	13	10	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:155231477C>G	ENST00000302631.3	-	2	222	c.115G>C	c.(115-117)Gac>Cac	p.D39H	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Intron|SCAMP3_ENST00000472397.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	39					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGTAGACGTCAAGCGTGGCA	0.587																																																	0													121	109	113					1																	155231477		2203	4300	6503	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.115G>C	1.37:g.155231477C>G	ENSP00000307275:p.Asp39His		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.D39H	ENST00000302631.3	37	c.115	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.740629	0.89573	.	.	ENSG00000116521	ENST00000302631	T	0.18502	2.21	5.46	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.971;0.998	T	0.00422	-1.1749	10	0.72032	D	0.01	-7.3699	10.3979	0.44211	0.0:0.91:0.0:0.09	.	39;39	Q6FHJ5;O14828	.;SCAM3_HUMAN	H	39	ENSP00000307275:D39H	ENSP00000307275:D39H	D	-	1	0	SCAMP3	153498101	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	4.583000	0.60964	2.840000	0.97914	0.655000	0.94253	GAC	SCAMP3	-	NULL		0.587	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155231477	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155231477	C	G	155231477	3	3	107	1	0	0	0	0	1	0	0	0	13902	826	29	1	960	1	SCAMP3	1	155231477	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	37592693	155231477	94019144	14	15855										
INSRR	3645	genome.wustl.edu	37	chr1	156821165	156821165	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcaaaggagtgcttgattttGaggaagccagtaatggtttc	13	5	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:156821165G>C	ENST00000368195.3	-	5	1542	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	382					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTTGATTTTGAGGAAGCCAG	0.547																																																	0													144	154	151					1																	156821165		2203	4300	6503	SO:0001819	synonymous_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1146C>G	1.37:g.156821165G>C			O60724|Q5VZS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L382	ENST00000368195.3	37	c.1146	CCDS1160.1	1																																																																																			INSRR	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt		0.547	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156821165	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	silent	SNP	1.000	C	C	156821165	G	C	156821165	2	2	107	1	0	0	0	0	0	0	0	1	7794	1277	45	1		1	INSRR	1	156821165	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1589688	156821165	92429456	15	15856										
DDR2	4921	genome.wustl.edu	37	chr1	162746018	162746018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcaccgagatctggccacacGaaactgtttagtgggtaaga	11	9	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:162746018G>A	ENST00000367922.3	+	17	2579	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.R714Q	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CTGGCCACACGAAACTGTTTA	0.458																																					NSCLC(161;314 2006 8283 19651 23192)												0													154	152	153					1																	162746018		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2141G>A	1.37:g.162746018G>A	ENSP00000356899:p.Arg714Gln		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R714Q	ENST00000367922.3	37	c.2141	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.499895	0.96355	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.87334	-2.24;-2.24	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	M	0.87971	2.92	0.39311	D	0.965087	D	0.89917	1.0	D	0.97110	1.0	D	0.94005	0.7279	9	0.59425	D	0.04	.	17.6139	0.88063	0.0:0.0:1.0:0.0	.	714	Q16832	DDR2_HUMAN	Q	714	ENSP00000356899:R714Q;ENSP00000356898:R714Q	ENSP00000356898:R714Q	R	+	2	0	DDR2	161012642	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.671000	0.98627	2.541000	0.85698	0.637000	0.83480	CGA	DDR2	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.458	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	G	NM_006182		162746018	1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	1.000	A	A	162746018	G	A	162746018	3	1	107	1	0	0	0	0	1	0	0	0	4342	1058	37	1	2195	1	DDR2	1	162746018	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5924853	162746018	86504603	16	15857										
C1orf156	92342	genome.wustl.edu	37	chr1	169761916	169761916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cttaacagtctaaggaaagtCtggtgcaaattactataata	7	6	2	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:169761916C>G	ENST00000310392.4	-	2	1274	c.921G>C	c.(919-921)caG>caC	p.Q307H	C1orf112_ENST00000359326.4_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.Q307H|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	307						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TAAGGAAAGTCTGGTGCAAAT	0.353																																																	0													56	56	56					1																	169761916		2203	4300	6503	SO:0001583	missense	92342			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.921G>C	1.37:g.169761916C>G	ENSP00000307975:p.Gln307His		B2R9T5	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.Q307H	ENST00000310392.4	37	c.921	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	8.156	0.788443	0.16258	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.21361	2.01;2.01	6.17	-5.3	0.02738	.	0.486738	0.21043	N	0.081122	T	0.05686	0.0149	L	0.53249	1.67	0.09310	N	1	B	0.26672	0.156	B	0.29524	0.103	T	0.27839	-1.0062	10	0.48119	T	0.1	0.3276	5.3082	0.15815	0.1594:0.5048:0.0989:0.2369	.	307	O95568	MET18_HUMAN	H	307	ENSP00000307975:Q307H;ENSP00000307077:Q307H	ENSP00000307077:Q307H	Q	-	3	2	METTL18	168028540	0.228000	0.23718	0.048000	0.18961	0.379000	0.30106	-0.466000	0.06672	-0.872000	0.04037	-0.302000	0.09304	CAG	METTL18	-	pfam_Nicotinamide_N-MeTfrase-like		0.353	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1	C	NM_033418		169761916	-1	no_errors	ENST00000303469	ensembl	human	known	70_37	missense	SNP	0.022	G	G	169761916	C	G	169761916	3	3	107	1	0	0	0	0	1	0	0	0	2011	912	32	1	201	1	C1orf156	1	169761916	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	7015898	169761916	79488705	17	15858										
FCAMR	83953	genome.wustl.edu	37	chr1	207133999	207133999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcctgcagctggagttgtttCtccaatggaaccctgagatt	11	10	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:207133999C>G	ENST00000324852.4	-	6	1696	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	FCAMR_ENST00000400962.3_Intron|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Intron	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	363					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGAGTTGTTTCTCCAATGGAA	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)												0													107	87	93					1																	207133999		692	1591	2283	SO:0001583	missense	83953			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1222G>C	1.37:g.207133999C>G	ENSP00000316491:p.Glu408Gln		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E408Q	ENST00000324852.4	37	c.1222	CCDS53468.1	1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672042	0.47781	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07216	3.21	5.51	3.63	0.41609	.	1.104100	0.06867	N	0.800140	T	0.12433	0.0302	L	0.40543	1.245	0.18873	N	0.999988	D;P	0.54601	0.967;0.48	P;B	0.49799	0.622;0.079	T	0.27706	-1.0066	10	0.36615	T	0.2	-1.4374	7.4784	0.27390	0.1643:0.751:0.0:0.0848	.	383;363	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	Q	408;384	ENSP00000316491:E408Q	ENSP00000316491:E408Q	E	-	1	0	FCAMR	205200622	0.001000	0.12720	0.102000	0.21198	0.016000	0.09150	0.524000	0.22940	0.793000	0.33875	0.655000	0.94253	GAA	FCAMR	-	NULL		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FCAMR	HGNC	protein_coding	OTTHUMT00000088969.2	C	NM_032029		207133999	-1	no_errors	ENST00000324852	ensembl	human	novel	70_37	missense	SNP	0.011	G	G	207133999	C	G	207133999	3	3	107	1	0	0	0	0	1	0	0	0	5790	922	32	1	523	1	FCAMR	1	207133999	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	37372083	207133999	42116622	18	15859										
TAF1B	9014	genome.wustl.edu	37	chr2	10051016	10051016	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtggtggtattgaaactgctCtttctattggatgacagttt	11	5	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:10051016C>G	ENST00000263663.5	+	10	1295	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	TAF1B_ENST00000396242.3_Silent_p.L114L	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	369	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAAACTGCTCTTTCTATTGG	0.338																																																	0													196	155	169					2																	10051016		2203	4300	6503	SO:0001819	synonymous_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1107C>G	2.37:g.10051016C>G			B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	pfam_TF_Rrn7	p.L369	ENST00000263663.5	37	c.1107	CCDS33143.1	2																																																																																			TAF1B	-	NULL		0.338	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	C	NM_005680		10051016	1	no_errors	ENST00000263663	ensembl	human	known	70_37	silent	SNP	0.992	G	G	10051016	C	G	10051016	2	3	107	1	0	0	0	0	0	0	0	1	15550	900	32	1		1	TAF1B	2	10051016	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09		10051016	233148357	19	15860										
MEMO1	51072	genome.wustl.edu	37	chr2	32093552	32093552	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cattccattcttctggagctCtgtgatagcctagaaaaaag	8	9	3	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:32093552C>G	ENST00000295065.5	-	9	1081	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	MEMO1_ENST00000426310.2_Missense_Mutation_p.E235Q|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.E258Q|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.E261Q	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	258					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TTCTGGAGCTCTGTGATAGCC	0.408																																																	0													26	26	26					2																	32093552		2203	4300	6503	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.772G>C	2.37:g.32093552C>G	ENSP00000295065:p.Glu258Gln		B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	pfam_UPF0103/Memo-related	p.E261Q	ENST00000295065.5	37	c.781	CCDS1776.1	2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730204	0.30684	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.44542	1.39	0.80722	D	1	B;P	0.42757	0.257;0.789	B;B	0.37780	0.092;0.258	T	0.45145	-0.9281	9	0.15499	T	0.54	-1.2791	18.7757	0.91911	0.0:1.0:0.0:0.0	.	235;258	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	Q	258;261;258;235	.	ENSP00000295065:E258Q	E	-	1	0	MEMO1	31947056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.796000	0.69080	2.608000	0.88229	0.650000	0.86243	GAG	MEMO1	-	pfam_UPF0103/Memo-related		0.408	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	HGNC	protein_coding	OTTHUMT00000250251.2	C	NM_015955		32093552	-1	no_errors	ENST00000379383	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32093552	C	G	32093552	3	3	107	1	0	0	0	0	1	0	0	0	9494	922	32	1	125	1	MEMO1	2	32093552	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	22042536	32093552	211105821	20	15861										
DNAH6	1768	genome.wustl.edu	37	chr2	84913648	84913648	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	attgacctggaatattttttGaataagcccatcatatttgg	7	6	1	2	rs543437610		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:84913648G>C	ENST00000237449.6	+	43	7112	c.7104G>C	c.(7102-7104)ttG>ttC	p.L2368F	DNAH6_ENST00000389394.3_Missense_Mutation_p.L2368F|DNAH6_ENST00000602588.1_Missense_Mutation_p.L340F|DNAH6_ENST00000398278.2_Missense_Mutation_p.L2319F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2368					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATATTTTTTGAATAAGCCCA	0.259																																																	0													101	85	90					2																	84913648		692	1587	2279	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7104G>C	2.37:g.84913648G>C	ENSP00000237449:p.Leu2368Phe		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2368F	ENST00000237449.6	37	c.7104	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	7.215	0.596250	0.13875	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.43688	1.72;0.94;1.72	5.66	0.429	0.16506	.	.	.	.	.	T	0.29976	0.0750	L	0.46614	1.455	0.23023	N	0.998415	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.29640	-1.0005	9	0.48119	T	0.1	.	2.0214	0.03509	0.1502:0.1365:0.4653:0.2479	.	2368;2319	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	F	2368;2319;2368	ENSP00000374045:L2368F;ENSP00000381326:L2319F;ENSP00000237449:L2368F	ENSP00000237449:L2368F	L	+	3	2	DNAH6	84767159	0.247000	0.23920	0.389000	0.26208	0.986000	0.74619	0.032000	0.13732	0.109000	0.17891	0.655000	0.94253	TTG	DNAH6	-	NULL		0.259	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84913648	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.157	C	C	84913648	G	C	84913648	3	2	107	1	0	0	0	0	1	0	0	0	4615	1281	45	1	7274	1	DNAH6	2	84913648	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	52820096	84913648	158285725	21	15862										
AFF3	3899	genome.wustl.edu	37	chr2	100289020	100289020	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctgttcattctcctcttcatCactgcttagcttaaggtcat	5	12	6	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:100289020C>T	ENST00000409236.2	-	10	1235	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	AFF3_ENST00000356421.2_Missense_Mutation_p.D400N|AFF3_ENST00000317233.4_Missense_Mutation_p.D375N|AFF3_ENST00000409579.1_Missense_Mutation_p.D400N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	375					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCTCTTCATCACTGCTTAGC	0.423																																																	0													211	187	195					2																	100289020		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1123G>A	2.37:g.100289020C>T	ENSP00000387207:p.Asp375Asn		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.D400N	ENST00000409236.2	37	c.1198	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757586	0.89843	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	5.35	0.76521	.	0.245199	0.27922	N	0.017304	T	0.76154	0.3948	L	0.39245	1.2	0.38121	D	0.93785	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.78239	-0.2281	10	0.49607	T	0.09	.	17.247	0.87031	0.0:1.0:0.0:0.0	.	529;375;400	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	N	375;400;400;375;375;529;400	ENSP00000317421:D375N;ENSP00000348793:D400N;ENSP00000386834:D400N;ENSP00000387207:D375N	ENSP00000317421:D375N	D	-	1	0	AFF3	99655452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.513000	0.84729	0.655000	0.94253	GAT	AFF3	-	pfam_TF_AF4/FMR2		0.423	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100289020	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100289020	C	T	100289020	3	4	107	1	0	0	0	0	1	0	0	0	358	826	29	1	2613	1	AFF3	2	100289020	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	15375372	100289020	142910353	22	15863										
PTPN4	5775	genome.wustl.edu	37	chr2	120702805	120702805	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttgatattccatcttctcctGaaaaacccactgtaagtagc	5	11	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:120702805G>A	ENST00000263708.2	+	16	2275	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	PTPN4_ENST00000544261.1_Missense_Mutation_p.E135K	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	502					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTTCTCCTGAAAAACCCAC	0.289																																																	0													59	61	60					2																	120702805		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1504G>A	2.37:g.120702805G>A	ENSP00000263708:p.Glu502Lys		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E502K	ENST00000263708.2	37	c.1504	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450106	0.63290	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.71817	-0.6;2.94;0.91	5.47	5.47	0.80525	.	0.217074	0.48767	D	0.000164	T	0.67002	0.2847	L	0.54323	1.7	0.52099	D	0.99994	B	0.30482	0.281	B	0.24848	0.056	T	0.63116	-0.6709	10	0.26408	T	0.33	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	502	P29074	PTN4_HUMAN	K	502;135;128	ENSP00000263708:E502K;ENSP00000445841:E135K;ENSP00000387457:E128K	ENSP00000263708:E502K	E	+	1	0	PTPN4	120419275	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.082000	0.89513	2.715000	0.92844	0.655000	0.94253	GAA	PTPN4	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.289	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	G			120702805	1	no_errors	ENST00000263708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120702805	G	A	120702805	3	1	107	1	0	0	0	0	1	0	0	0	12820	1291	45	1	1562	1	PTPN4	2	120702805	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	20413785	120702805	122496568	23	15864										
INHBB	3625	genome.wustl.edu	37	chr2	121106682	121106682	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cccttttccgcagatggcctCgcctcctcccgggtccgcct	9	20	0	1	rs145813735		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:121106682C>T	ENST00000295228.3	+	2	502	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	152					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CAGATGGCCTCGCCTCCTCCC	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		19226	0		0	False		,,,				2504	0																0								C		2,4404	4.2+/-10.8	0,2,2201	48	53	51		456	-5.9	0.6	2	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	INHBB	NM_002193.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		152/408	121106682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.456C>T	2.37:g.121106682C>T			Q53T31|Q8N1D3	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.L152	ENST00000295228.3	37	c.456	CCDS2132.1	2																																																																																			INHBB	-	pfam_TGF-b_N,prints_Inhibin_betaB		0.552	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	C			121106682	1	no_errors	ENST00000295228	ensembl	human	known	70_37	silent	SNP	0.004	T	T	121106682	C	T	121106682	2	4	107	1	0	0	0	0	0	0	0	1	7762	871	31	1		1	INHBB	2	121106682	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	403877	121106682	122092691	24	15865										
GPR39	2863	genome.wustl.edu	37	chr2	133403010	133403010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gttgctcttcgcgtcccggcGccagtcctctgcaaggagaa	12	14	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:133403010G>T	ENST00000329321.3	+	2	1662	c.1193G>T	c.(1192-1194)cGc>cTc	p.R398L	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	398					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGTCCCGGCGCCAGTCCTCT	0.597																																																	0													43	46	45					2																	133403010		2203	4300	6503	SO:0001583	missense	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1193G>T	2.37:g.133403010G>T	ENSP00000327417:p.Arg398Leu		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R398L	ENST00000329321.3	37	c.1193	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758264	0.31137	.	.	ENSG00000183840	ENST00000329321	T	0.65364	-0.15	5.15	1.27	0.21489	.	3.580820	0.00649	N	0.000551	T	0.55465	0.1922	L	0.59436	1.845	0.80722	D	1	P	0.39551	0.678	B	0.33690	0.168	T	0.50162	-0.8860	10	0.13853	T	0.58	.	8.6149	0.33826	0.131:0.2313:0.6376:0.0	.	398	O43194	GPR39_HUMAN	L	398	ENSP00000327417:R398L	ENSP00000327417:R398L	R	+	2	0	GPR39	133119480	0.840000	0.29493	0.010000	0.14722	0.022000	0.10575	1.931000	0.40134	0.342000	0.23796	-0.143000	0.13931	CGC	GPR39	-	NULL		0.597	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	G			133403010	1	no_errors	ENST00000329321	ensembl	human	known	70_37	missense	SNP	0.801	T	T	133403010	G	T	133403010	3	4	107	1	0	0	0	0	1	0	0	0	6712	1087	38	2	1199	2	GPR39	2	133403010	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	12296328	133403010	109796363	25	15866										
THSD7B	80731	genome.wustl.edu	37	chr2	137814668	137814668	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tctggattttaactctgattCaaatgagcgagtcaccttta	7	8	4	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:137814668C>G	ENST00000409968.1	+	3	996	c.818C>G	c.(817-819)tCa>tGa	p.S273*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.S242*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.S132*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.S273*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	273						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACTCTGATTCAAATGAGCGA	0.398																																																	0													97	96	96					2																	137814668		1864	4106	5970	SO:0001587	stop_gained	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.818C>G	2.37:g.137814668C>G	ENSP00000387145:p.Ser273*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S273*	ENST00000409968.1	37	c.818		2	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629117	0.67015	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	5.45	4.51	0.55191	.	0.490245	0.23021	N	0.052848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.7878	0.46415	0.1456:0.7137:0.1407:0.0	.	.	.	.	X	273;273;242;132	.	ENSP00000272643:S273X	S	+	2	0	THSD7B	137531138	0.997000	0.39634	1.000000	0.80357	0.533000	0.34776	3.553000	0.53713	2.721000	0.93114	0.585000	0.79938	TCA	THSD7B	-	NULL		0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		137814668	1	no_errors	ENST00000272643	ensembl	human	known	70_37	nonsense	SNP	0.995	G	G	137814668	C	G	137814668	4	3	107	1	0	0	0	0	0	1	0	0	15910	838	29	1	731	1	THSD7B	2	137814668	Nonsense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	4411658	137814668	105384705	26	15867										
NEB	4703	genome.wustl.edu	37	chr2	152419320	152419320	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcataatgttttctgtagttCaactaatatgttttaaagac	5	5	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:152419320C>T	ENST00000172853.10	-	92	13740	c.13593G>A	c.(13591-13593)ttG>ttA	p.L4531L	NEB_ENST00000427231.2_Silent_p.L6232L|NEB_ENST00000409198.1_Silent_p.L4531L|NEB_ENST00000604864.1_Silent_p.L6232L|NEB_ENST00000603639.1_Silent_p.L6232L|NEB_ENST00000397345.3_Silent_p.L6232L			P20929	NEBU_HUMAN	nebulin	4531					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTGTAGTTCAACTAATATG	0.333																																																	0													92	78	82					2																	152419320		1844	4081	5925	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13593G>A	2.37:g.152419320C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L6232	ENST00000172853.10	37	c.18696		2																																																																																			NEB	-	smart_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152419320	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152419320	C	T	152419320	2	4	107	1	0	0	0	0	0	0	0	1	10326	825	29	1		1	NEB	2	152419320	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	14604652	152419320	90780053	27	15868										
PLA2R1	22925	genome.wustl.edu	37	chr2	160885430	160885430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gccagcgtgttcatccagctGattgaggcccatccacacct	9	15	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:160885430G>C	ENST00000283243.7	-	5	1092	c.886C>G	c.(886-888)Cag>Gag	p.Q296E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.Q296E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	296	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCATCCAGCTGATTGAGGCCC	0.468																																																	0													119	94	102					2																	160885430		2203	4300	6503	SO:0001583	missense	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.886C>G	2.37:g.160885430G>C	ENSP00000283243:p.Gln296Glu		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Q296E	ENST00000283243.7	37	c.886	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235394	0.58886	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16897	2.31;2.31	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.118542	0.64402	D	0.000018	T	0.39172	0.1068	M	0.66939	2.045	0.47037	D	0.999291	D;D;D	0.58620	0.973;0.974;0.983	P;P;P	0.62885	0.908;0.84;0.872	T	0.01242	-1.1408	10	0.27785	T	0.31	.	18.8909	0.92403	0.0:0.0:1.0:0.0	.	296;296;296	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	E	296	ENSP00000283243:Q296E;ENSP00000376524:Q296E	ENSP00000283243:Q296E	Q	-	1	0	PLA2R1	160593676	1.000000	0.71417	0.999000	0.59377	0.107000	0.19398	2.531000	0.45650	2.759000	0.94783	0.650000	0.86243	CAG	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.468	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	G			160885430	-1	no_errors	ENST00000283243	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160885430	G	C	160885430	3	2	107	1	0	0	0	0	1	0	0	0	12034	1299	45	1	3617	1	PLA2R1	2	160885430	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	8466110	160885430	82313943	28	15869										
CHN1	1123	genome.wustl.edu	37	chr2	175673663	175673663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tataaacttagggtaggcatCatatgtaatgagtggaattg	11	3	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:175673663C>T	ENST00000409900.3	-	11	1385	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	CHN1_ENST00000409156.3_Missense_Mutation_p.D332N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.D174N|CHN1_ENST00000295497.7_Missense_Mutation_p.D233N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	358	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GGGTAGGCATCATATGTAATG	0.378			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													274	268	270					2																	175673663		1890	4113	6003	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1072G>A	2.37:g.175673663C>T	ENSP00000386741:p.Asp358Asn		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.D358N	ENST00000409900.3	37	c.1072	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.545904	0.96488	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.042800	0.85682	D	0.000000	T	0.40448	0.1117	L	0.55481	1.735	0.80722	D	1	D;D;D	0.59767	0.986;0.975;0.967	P;P;P	0.62649	0.905;0.905;0.732	T	0.10154	-1.0642	10	0.46703	T	0.11	.	17.5651	0.87917	0.0:1.0:0.0:0.0	.	332;358;233	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	N	358;233;174;332;150;133;176;184	ENSP00000386741:D358N;ENSP00000295497:D233N;ENSP00000386469:D174N;ENSP00000386470:D332N;ENSP00000386322:D150N;ENSP00000411911:D133N;ENSP00000410496:D176N;ENSP00000409798:D184N	ENSP00000295497:D233N	D	-	1	0	CHN1	175381909	1.000000	0.71417	0.921000	0.36526	0.996000	0.88848	7.776000	0.85560	2.458000	0.83093	0.455000	0.32223	GAT	CHN1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom		0.378	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	C	NM_001822		175673663	-1	no_errors	ENST00000409900	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175673663	C	T	175673663	3	4	107	1	0	0	0	0	1	0	0	0	3367	826	29	1	319	1	CHN1	2	175673663	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	14788233	175673663	67525710	29	15870										
DNAH7	56171	genome.wustl.edu	37	chr2	196741270	196741270	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgtacaaagagtcattaccaTtctcttgcccaaaggaggac	8	10	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:196741270T>G	ENST00000312428.6	-	37	6215	c.6115A>C	c.(6115-6117)Atg>Ctg	p.M2039L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2039	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCATTACCATTCTCTTGCCC	0.413																																																	0													144	128	133					2																	196741270		1861	4093	5954	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6115A>C	2.37:g.196741270T>G	ENSP00000311273:p.Met2039Leu		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.M2039L	ENST00000312428.6	37	c.6115	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976195	0.53720	.	.	ENSG00000118997	ENST00000312428	T	0.21734	1.99	4.89	4.89	0.63831	ATPase, AAA+ type, core (1);	0.042206	0.85682	D	0.000000	T	0.12944	0.0314	N	0.17379	0.485	0.80722	D	1	B	0.19200	0.034	B	0.25759	0.063	T	0.04976	-1.0914	10	0.06625	T	0.88	.	14.6256	0.68618	0.0:0.0:0.0:1.0	.	2039	Q8WXX0	DYH7_HUMAN	L	2039	ENSP00000311273:M2039L	ENSP00000311273:M2039L	M	-	1	0	DNAH7	196449515	1.000000	0.71417	0.988000	0.46212	0.913000	0.54294	3.306000	0.51881	2.187000	0.69744	0.482000	0.46254	ATG	DNAH7	-	smart_AAA+_ATPase		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	T	NM_018897		196741270	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	G	G	196741270	T	G	196741270	3	3	107	1	0	0	0	0	1	0	0	0	4616	1493	52	5	6075	5	DNAH7	2	196741270	Missense_Mutation	SNP	T	TCGA-EK-A2RC-01A-11D-A18J-09	21067607	196741270	46458103	30	15871										
CCDC108	255101	genome.wustl.edu	37	chr2	219875665	219875665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgaacctgtgacaggacatcGgtctggacctcatatgtcac	10	11	3	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:219875665G>A	ENST00000341552.5	-	25	4094	c.4011C>T	c.(4009-4011)acC>acT	p.T1337T	CCDC108_ENST00000441968.1_Silent_p.T1337T|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.T1337T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1337						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGGACATCGGTCTGGACCT	0.522																																																	0													65	68	67					2																	219875665		2203	4300	6503	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4011C>T	2.37:g.219875665G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.T1337	ENST00000341552.5	37	c.4011	CCDS2430.2	2																																																																																			CCDC108	-	NULL		0.522	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219875665	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	silent	SNP	0.171	A	A	219875665	G	A	219875665	2	1	107	1	0	0	0	0	0	0	0	1	2748	1103	39	2		2	CCDC108	2	219875665	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	23134395	219875665	23323708	31	15872										
NCL	4691	genome.wustl.edu	37	chr2	232326377	232326377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttcatcttcatcctcatcctCgtcctcgtcatcctcctcat	2	18	6	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:232326377C>T	ENST00000322723.4	-	3	727	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	163	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcctcatcctcgtcctcgtca	0.522																																																	0													470	289	350					2																	232326377		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.487G>A	2.37:g.232326377C>T	ENSP00000318195:p.Glu163Lys		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E163K	ENST00000322723.4	37	c.487	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485002	0.63962	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992	T;T;T;T	0.25579	3.11;2.98;2.98;1.79	5.34	5.34	0.76211	.	0.430727	0.16094	U	0.229905	T	0.24470	0.0593	L	0.40543	1.245	0.35674	D	0.813514	D	0.56968	0.978	B	0.42625	0.393	T	0.27971	-1.0058	10	0.52906	T	0.07	.	13.5383	0.61659	0.1565:0.8435:0.0:0.0	.	163	P19338	NUCL_HUMAN	K	163;105;163;147;147;147	ENSP00000318195:E163K;ENSP00000401620:E147K;ENSP00000392747:E147K;ENSP00000413775:E147K	ENSP00000318195:E163K	E	-	1	0	NCL	232034621	0.306000	0.24490	0.064000	0.19789	0.029000	0.11900	2.575000	0.46025	2.511000	0.84671	0.555000	0.69702	GAG	NCL	-	NULL		0.522	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	C	NM_005381		232326377	-1	no_errors	ENST00000322723	ensembl	human	known	70_37	missense	SNP	0.704	T	T	232326377	C	T	232326377	3	4	107	1	0	0	0	0	1	0	0	0	10250	893	31	1	1693	1	NCL	2	232326377	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	12450712	232326377	10872996	32	15873										
SLC6A6	6533	genome.wustl.edu	37	chr3	14485210	14485210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	catcctgaagccctcaccagGgaagagcccaggcacgcggc	12	16	1	2	rs56135743		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:14485210G>T	ENST00000454876.2	+	3	397	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC6A6_ENST00000360861.3_Missense_Mutation_p.G23V|SLC6A6_ENST00000416216.2_Missense_Mutation_p.G23V|SLC6A6_ENST00000484191.1_Intron			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	23					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCCTCACCAGGGAAGAGCCCA	0.562																																																	0													102	96	98					3																	14485210		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.68G>T	3.37:g.14485210G>T	ENSP00000398063:p.Gly23Val		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.G23V	ENST00000454876.2	37	c.68	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990521	0.54041	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216;ENST00000452775	T;T;T;T	0.73897	-0.79;-0.79;-0.14;0.23	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.08118	0	0.80722	D	1	B;B	0.24533	0.105;0.105	B;B	0.19391	0.025;0.025	T	0.56649	-0.7944	10	0.41790	T	0.15	.	17.7494	0.88430	0.0:0.0:1.0:0.0	.	23;23	B2RNU7;P31641	.;SC6A6_HUMAN	V	23	ENSP00000398063:G23V;ENSP00000354107:G23V;ENSP00000401167:G23V;ENSP00000402059:G23V	ENSP00000354107:G23V	G	+	2	0	SLC6A6	14460214	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.701000	0.84566	2.185000	0.69588	0.585000	0.79938	GGG	SLC6A6	-	NULL		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	G	NM_003043		14485210	1	no_errors	ENST00000360861	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14485210	G	T	14485210	3	4	107	1	0	0	0	0	1	0	0	0	14718	1232	43	4	70	4	SLC6A6	3	14485210	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		14485210	183537220	33	15874										
BAP1	8314	genome.wustl.edu	37	chr3	52437848	52437848	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tggtgttgggctgcagcactGacagttgcccatcagcagaa	13	10	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:52437848G>C	ENST00000460680.1	-	13	1784	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S420*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCAGCACTGACAGTTGCCC	0.567			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													101	104	103					3																	52437848		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1313C>G	3.37:g.52437848G>C	ENSP00000417132:p.Ser438*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.S438*	ENST00000460680.1	37	c.1313	CCDS2853.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840744|2.840744	0.51057|0.51057	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000469613|ENST00000460680;ENST00000296288	.|.	.|.	.|.	6.05|6.05	5.14|5.14	0.70334|0.70334	.|.	.|0.320868	.|0.29722	.|N	.|0.011369	T|.	0.76835|.	0.4043|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79725|.	-0.1683|.	3|.	.|0.72032	.|D	.|0.01	.|.	17.3868|17.3868	0.87418|0.87418	0.0:0.1342:0.8658:0.0|0.0:0.1342:0.8658:0.0	.|.	.|.	.|.	.|.	E|X	30|438;420	.|.	.|ENSP00000296288:S420X	Q|S	-|-	1|2	0|0	BAP1|BAP1	52412888|52412888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	3.543000|3.543000	0.53633|0.53633	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	CAG|TCA	BAP1	-	NULL		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52437848	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	0.957	C	C	52437848	G	C	52437848	4	2	107	1	0	0	0	0	0	1	0	0	1312	1294	45	1	896	1	BAP1	3	52437848	Nonsense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	37952638	52437848	145584582	34	15875										
PDE12	201626	genome.wustl.edu	37	chr3	57543266	57543266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aggcctggccactttctaccGaaagtctaagttcagccttc	8	13	3	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:57543266G>A	ENST00000311180.8	+	1	1263	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	PDE12_ENST00000487257.1_Missense_Mutation_p.R387Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	387					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACTTTCTACCGAAAGTCTAAG	0.527																																					Colon(125;308 1634 19198 50622 50717)												0													51	53	53					3																	57543266		2203	4300	6503	SO:0001583	missense	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1160G>A	3.37:g.57543266G>A	ENSP00000309142:p.Arg387Gln		B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R387Q	ENST00000311180.8	37	c.1160	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.237176	0.95240	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	D;D	0.84146	-1.81;-1.81	5.56	5.56	0.83823	Endonuclease/exonuclease/phosphatase (2);	0.052289	0.85682	D	0.000000	D	0.93301	0.7865	M	0.85542	2.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.921	D	0.93688	0.7004	10	0.66056	D	0.02	-8.2142	19.5261	0.95208	0.0:0.0:1.0:0.0	.	387;387	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	Q	387	ENSP00000420626:R387Q;ENSP00000309142:R387Q	ENSP00000309142:R387Q	R	+	2	0	PDE12	57518306	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	9.384000	0.97219	2.632000	0.89209	0.655000	0.94253	CGA	PDE12	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.527	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	G	NM_177966		57543266	1	no_errors	ENST00000311180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57543266	G	A	57543266	3	1	107	1	0	0	0	0	1	0	0	0	11656	1058	37	1	1162	1	PDE12	3	57543266	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5105418	57543266	140479164	35	15876										
COL8A1	1295	genome.wustl.edu	37	chr3	99514078	99514078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaaagccaggtttccttggtGaagtagggcctcctggcatg	14	9	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:99514078G>A	ENST00000261037.3	+	5	1713	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	COL8A1_ENST00000273342.4_Missense_Mutation_p.E445K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	445	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTTCCTTGGTGAAGTAGGGCC	0.607																																																	0													37	34	35					3																	99514078		2203	4300	6503	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1333G>A	3.37:g.99514078G>A	ENSP00000261037:p.Glu445Lys		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E445K	ENST00000261037.3	37	c.1333	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506542	0.64410	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93659	-3.26;-3.26	5.95	5.95	0.96441	.	0.198059	0.51477	D	0.000082	D	0.90177	0.6930	L	0.48218	1.51	0.58432	D	0.999999	P;P	0.44734	0.842;0.675	B;B	0.40165	0.321;0.242	D	0.87938	0.2715	10	0.10636	T	0.68	.	17.8686	0.88804	0.0:0.0:1.0:0.0	.	446;445	E7EPK9;P27658	.;CO8A1_HUMAN	K	445	ENSP00000261037:E445K;ENSP00000273342:E445K	ENSP00000261037:E445K	E	+	1	0	COL8A1	100996768	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.824000	0.99380	2.817000	0.96982	0.563000	0.77884	GAA	COL8A1	-	pfam_Collagen		0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99514078	1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99514078	G	A	99514078	3	1	107	1	0	0	0	0	1	0	0	0	3710	1291	45	1	1339	1	COL8A1	3	99514078	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	41970812	99514078	98508352	36	15877										
WDR52	55779	genome.wustl.edu	37	chr3	113099823	113099823	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttcataggagactacatcatGatcatcctcttcttgcttta	5	10	5	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:113099823G>A	ENST00000295868.2	-	16	2137	c.1975C>T	c.(1975-1977)Cat>Tat	p.H659Y	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_Missense_Mutation_p.H659Y	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACTACATCATGATCATCCTCT	0.323																																																	0													101	99	100					3																	113099823		2201	4296	6497	SO:0001583	missense	55779																														ENST00000295868.2:c.1975C>T	3.37:g.113099823G>A	ENSP00000295868:p.His659Tyr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H659Y	ENST00000295868.2	37	c.1975	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.436189	0.00182	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.16897	2.31;2.31	5.32	0.785	0.18584	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.04907	0.0132	N	0.04508	-0.205	0.09310	N	1	B	0.24533	0.105	B	0.22601	0.04	T	0.39210	-0.9625	9	0.02654	T	1	.	1.6944	0.02859	0.2466:0.1518:0.447:0.1546	.	659	Q96MT7	WDR52_HUMAN	Y	659	ENSP00000377428:H659Y;ENSP00000295868:H659Y	ENSP00000295868:H659Y	H	-	1	0	WDR52	114582513	0.008000	0.16893	0.003000	0.11579	0.016000	0.09150	0.629000	0.24538	0.302000	0.22762	-0.319000	0.08680	CAT	WDR52	-	superfamily_WD40_repeat_dom		0.323	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	G			113099823	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113099823	G	A	113099823	3	1	107	1	0	0	0	0	1	0	0	0	17335	1290	45	1	3684	1	WDR52	3	113099823	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	13585745	113099823	84922607	37	15878										
ESYT3	83850	genome.wustl.edu	37	chr3	138191231	138191231	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caagtggaggaacgagagctGgggagcccatacacaggacc	15	10	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:138191231G>C	ENST00000389567.4	+	18	1953	c.1767G>C	c.(1765-1767)ctG>ctC	p.L589L		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	589					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AACGAGAGCTGGGGAGCCCAT	0.542																																																	0													102	107	105					3																	138191231		1985	4166	6151	SO:0001819	synonymous_variant	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1767G>C	3.37:g.138191231G>C			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.L589	ENST00000389567.4	37	c.1767	CCDS3101.2	3																																																																																			ESYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.542	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	G	NM_031913		138191231	1	no_errors	ENST00000389567	ensembl	human	known	70_37	silent	SNP	1.000	C	C	138191231	G	C	138191231	2	2	107	1	0	0	0	0	0	0	0	1	5278	1335	47	4		4	ESYT3	3	138191231	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	25091408	138191231	59831199	38	15879										
MECOM	2122	genome.wustl.edu	37	chr3	168833226	168833226	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgcatgctgcaaggaaccatCtgaagcaggtcttgattcga	11	9	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:168833226C>G	ENST00000464456.1	-	7	3070	c.1870G>C	c.(1870-1872)Gat>Cat	p.D624H	MECOM_ENST00000494292.1_Missense_Mutation_p.D812H|MECOM_ENST00000433243.2_Missense_Mutation_p.D625H|MECOM_ENST00000472280.1_Missense_Mutation_p.D625H|MECOM_ENST00000392736.3_Missense_Mutation_p.D624H|MECOM_ENST00000468789.1_Missense_Mutation_p.D624H|MECOM_ENST00000460814.1_Missense_Mutation_p.D624H|MECOM_ENST00000264674.3_Missense_Mutation_p.D689H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	33					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGGAACCATCTGAAGCAGGT	0.458																																																	0													107	98	101					3																	168833226		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1870G>C	3.37:g.168833226C>G	ENSP00000419770:p.Asp624His		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D812H	ENST00000464456.1	37	c.2434	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123472	0.56613	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.07800	3.45;3.45;3.4;3.55;3.39;3.45;3.4;3.55;3.16	5.97	5.97	0.96955	.	0.078649	0.53938	D	0.000047	T	0.26412	0.0645	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.992;0.996;0.976;0.996;0.995	P;P;P;P;P	0.62813	0.907;0.873;0.713;0.873;0.806	T	0.00015	-1.2397	10	0.54805	T	0.06	-17.9229	20.4388	0.99107	0.0:1.0:0.0:0.0	.	812;625;812;689;624	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	H	689;624;624;625;812;624;624;625;275	ENSP00000264674:D689H;ENSP00000376493:D624H;ENSP00000419770:D624H;ENSP00000420048:D625H;ENSP00000417899:D812H;ENSP00000419995:D624H;ENSP00000420466:D624H;ENSP00000394302:D625H;ENSP00000417506:D275H	ENSP00000264674:D689H	D	-	1	0	MECOM	170315920	1.000000	0.71417	0.963000	0.40424	0.011000	0.07611	3.806000	0.55583	2.836000	0.97738	0.655000	0.94253	GAT	MECOM	-	NULL		0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	C	NM_005241, NM_004991		168833226	-1	no_errors	ENST00000494292	ensembl	human	known	70_37	missense	SNP	0.998	G	G	168833226	C	G	168833226	3	3	107	1	0	0	0	0	1	0	0	0	9445	913	32	1	1325	1	MECOM	3	168833226	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	30641995	168833226	29189204	39	15880										
PRKCI	5584	genome.wustl.edu	37	chr3	169998171	169998171	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caatgaaagttgtgaaaaaaGagcttgttaatgatgatgag	11	2	0	6			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:169998171G>C	ENST00000295797.4	+	9	1167	c.862G>C	c.(862-864)Gag>Cag	p.E288Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TGTGAAAAAAGAGCTTGTTAA	0.333																																																	0													76	76	76					3																	169998171		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.862G>C	3.37:g.169998171G>C	ENSP00000295797:p.Glu288Gln		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E288Q	ENST00000295797.4	37	c.862	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017155	0.93404	.	.	ENSG00000163558	ENST00000295797	T	0.66280	-0.2	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	N	0.17312	0.475	0.80722	D	1	D	0.58620	0.983	P	0.54965	0.765	T	0.58239	-0.7671	9	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	288	P41743	KPCI_HUMAN	Q	288	ENSP00000295797:E288Q	.	E	+	1	0	PRKCI	171480865	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.459000	0.97638	2.890000	0.99128	0.650000	0.86243	GAG	PRKCI	-	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,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	G	NM_002740		169998171	1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	C	C	169998171	G	C	169998171	3	2	107	1	0	0	0	0	1	0	0	0	12541	943	33	1	896	1	PRKCI	3	169998171	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1164945	169998171	28024259	40	15881										
TBL1XR1	79718	genome.wustl.edu	37	chr3	176767838	176767838	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tggaacatcttgccctccttCtcgtatacaatgtctaagta	6	11	3	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:176767838C>G	ENST00000430069.1	-	7	908	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.E217Q			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	217					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGCCCTCCTTCTCGTATACAA	0.383																																																	0													168	158	161					3																	176767838		1996	4149	6145	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.649G>C	3.37:g.176767838C>G	ENSP00000405574:p.Glu217Gln		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E217Q	ENST00000430069.1	37	c.649	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960545	0.74016	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.52526	0.66;0.66	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	N	0.20610	0.595	0.80722	D	1	P	0.36789	0.57	B	0.32533	0.147	T	0.11446	-1.0587	10	0.28530	T	0.3	-10.9567	18.1806	0.89776	0.0:1.0:0.0:0.0	.	217	Q9BZK7	TBL1R_HUMAN	Q	217;217;79	ENSP00000405574:E217Q;ENSP00000413251:E217Q	ENSP00000405574:E217Q	E	-	1	0	TBL1XR1	178250532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.809000	0.86057	2.596000	0.87737	0.655000	0.94253	GAA	TBL1XR1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.383	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	C	NM_024665		176767838	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176767838	C	G	176767838	3	3	107	1	0	0	0	0	1	0	0	0	15670	922	32	1	935	1	TBL1XR1	3	176767838	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	6769667	176767838	21254592	41	15882										
HTR3E	285242	genome.wustl.edu	37	chr3	183823717	183823717	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tacaacgtcttcctgctcatGatgagtgacttgctccccac	7	14	2	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:183823717G>A	ENST00000415389.2	+	7	1351	c.885G>A	c.(883-885)atG>atA	p.M295I	HTR3E_ENST00000425359.2_Missense_Mutation_p.M280I|HTR3E_ENST00000335304.2_Missense_Mutation_p.M310I|HTR3E_ENST00000440596.2_Missense_Mutation_p.M321I|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.M295I	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	295					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCCTGCTCATGATGAGTGACT	0.542																																					Melanoma(7;227 727 6634 44770)												0													220	184	196					3																	183823717		2203	4300	6503	SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.885G>A	3.37:g.183823717G>A	ENSP00000401444:p.Met295Ile		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.M310I	ENST00000415389.2	37	c.930	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	g	1.876	-0.459168	0.04508	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	3.64	2.75	0.32379	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.758435	0.11578	U	0.549991	T	0.80824	0.4697	L	0.39514	1.22	0.28039	N	0.933818	B;B;B;B;B	0.30763	0.005;0.053;0.294;0.294;0.043	B;B;B;B;B	0.40066	0.008;0.16;0.318;0.318;0.1	T	0.71454	-0.4588	10	0.37606	T	0.19	.	5.9215	0.19084	0.2421:0.0:0.7579:0.0	.	321;295;295;310;280	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	I	295;280;310;295;321	ENSP00000401444:M295I;ENSP00000401900:M280I;ENSP00000335511:M310I;ENSP00000395833:M295I;ENSP00000406050:M321I	ENSP00000335511:M310I	M	+	3	0	HTR3E	185306411	0.986000	0.35501	1.000000	0.80357	0.986000	0.74619	0.188000	0.17018	0.854000	0.35336	0.655000	0.94253	ATG	HTR3E	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.542	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	G	NM_182589		183823717	1	no_errors	ENST00000335304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183823717	G	A	183823717	3	1	107	1	0	0	0	0	1	0	0	0	7468	1290	45	1	952	1	HTR3E	3	183823717	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	7055879	183823717	14198713	42	15883										
LIPH	200879	genome.wustl.edu	37	chr3	185236975	185236975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgacgtgccgcagctgacacActtgccattcctataatcct	7	14	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:185236975A>G	ENST00000296252.4	-	6	982	c.841T>C	c.(841-843)Tgt>Cgt	p.C281R	LIPH_ENST00000424591.2_Missense_Mutation_p.C247R	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	281					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAGCTGACACACTTGCCATTC	0.488																																																	0													142	140	141					3																	185236975		2203	4300	6503	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.841T>C	3.37:g.185236975A>G	ENSP00000296252:p.Cys281Arg		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.C281R	ENST00000296252.4	37	c.841	CCDS3272.1	3	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995523	0.74703	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.92911	-3.13;-3.13	5.01	5.01	0.66863	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98366	1.0551	10	0.87932	D	0	-19.1591	14.0892	0.64977	1.0:0.0:0.0:0.0	.	247;281	A2IBA6;Q8WWY8	.;LIPH_HUMAN	R	281;247	ENSP00000296252:C281R;ENSP00000396384:C247R	ENSP00000296252:C281R	C	-	1	0	LIPH	186719669	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	7.872000	0.87187	2.110000	0.64415	0.374000	0.22700	TGT	LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.488	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	A			185236975	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	missense	SNP	1.000	G	G	185236975	A	G	185236975	3	3	107	1	0	0	0	0	1	0	0	0	8845	159	6	5	534	5	LIPH	3	185236975	Missense_Mutation	SNP	A	TCGA-EK-A2RC-01A-11D-A18J-09	1413258	185236975	12785455	43	15884										
C3orf59	151963	genome.wustl.edu	37	chr3	192516904	192516904	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tggttctccatgagccagctCtgggccactgcaggccaacc	11	15	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:192516904C>G	ENST00000392452.2	-	2	1067	c.747G>C	c.(745-747)caG>caC	p.Q249H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	249							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGAGCCAGCTCTGGGCCACTG	0.493																																																	0													76	72	73					3																	192516904		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.747G>C	3.37:g.192516904C>G	ENSP00000376246:p.Gln249His		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.Q249H	ENST00000392452.2	37	c.747	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871018	0.51695	.	.	ENSG00000180611	ENST00000392452	T	0.08370	3.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.60455	1.87	0.58432	D	0.999999	D	0.65815	0.995	P	0.60789	0.879	T	0.00051	-1.2192	10	0.52906	T	0.07	.	12.0541	0.53524	0.0:0.9224:0.0:0.0776	.	249	Q8IYB1	M21D2_HUMAN	H	249	ENSP00000376246:Q249H	ENSP00000376246:Q249H	Q	-	3	2	MB21D2	193999598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.892000	0.56235	2.652000	0.90054	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.493	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	C	NM_178496		192516904	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	G	G	192516904	C	G	192516904	3	3	107	1	0	0	0	0	1	0	0	0	2242	912	32	1	732	1	C3orf59	3	192516904	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	7279929	192516904	5505526	44	15885										
ACAP2	23527	genome.wustl.edu	37	chr3	195022848	195022848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctttcaataatttctctttgGactcatttccagaatctagg	5	9	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:195022848G>A	ENST00000326793.6	-	14	1402	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	391					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTCTCTTTGGACTCATTTCC	0.418																																																	0													149	167	161					3																	195022848		2203	4300	6503	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1172C>T	3.37:g.195022848G>A	ENSP00000324287:p.Ser391Phe		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S391F	ENST00000326793.6	37	c.1172	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977012	0.74360	.	.	ENSG00000114331	ENST00000326793	T	0.52526	0.66	5.86	5.86	0.93980	.	0.309128	0.35838	N	0.002956	T	0.38081	0.1027	N	0.14661	0.345	0.49915	D	0.999835	B	0.32101	0.356	B	0.34652	0.187	T	0.33343	-0.9872	10	0.62326	D	0.03	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	391	Q15057	ACAP2_HUMAN	F	391	ENSP00000324287:S391F	ENSP00000324287:S391F	S	-	2	0	ACAP2	196504137	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	TCC	ACAP2	-	NULL		0.418	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	G	NM_012287		195022848	-1	no_errors	ENST00000326793	ensembl	human	known	70_37	missense	SNP	1.000	A	A	195022848	G	A	195022848	3	1	107	1	0	0	0	0	1	0	0	0	119	1174	41	1	1204	1	ACAP2	3	195022848	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	2505944	195022848	2999582	45	15886										
SH3TC1	54436	genome.wustl.edu	37	chr4	8228872	8228872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcaggaccccgaggagccctCcttctgcttggaagccgagg	14	14	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:8228872C>T	ENST00000245105.3	+	12	1518	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Missense_Mutation_p.S408F	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	484										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGAGCCCTCCTTCTGCTTG	0.652																																					NSCLC(145;2298 2623 35616 37297)												0													29	29	29					4																	8228872		2203	4298	6501	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1451C>T	4.37:g.8228872C>T	ENSP00000245105:p.Ser484Phe		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.S484F	ENST00000245105.3	37	c.1451	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559052	0.03967	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.48522	0.81;0.81	4.66	0.201	0.15186	.	1.543830	0.03757	N	0.257532	T	0.41119	0.1145	L	0.46157	1.445	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	T	0.21895	-1.0232	10	0.36615	T	0.2	-2.2912	5.8644	0.18767	0.1143:0.203:0.5844:0.0983	.	484	Q8TE82	S3TC1_HUMAN	F	222;484;408;313	ENSP00000245105:S484F;ENSP00000441045:S408F	ENSP00000245105:S484F	S	+	2	0	SH3TC1	8279772	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	0.356000	0.20181	0.056000	0.16144	0.561000	0.74099	TCC	SH3TC1	-	NULL		0.652	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8228872	1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	0.000	T	T	8228872	C	T	8228872	3	4	107	1	0	0	0	0	1	0	0	0	14291	855	30	1	1493	1	SH3TC1	4	8228872	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09		8228872	182925404	46	15887										
EPHA5	2044	genome.wustl.edu	37	chr4	66201813	66201813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	acaatccatggggcttggcaGacgatagccttcctctaccg	10	13	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:66201813G>A	ENST00000273854.3	-	16	3289	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	EPHA5_ENST00000511294.1_Silent_p.L898L|EPHA5_ENST00000432638.2_Silent_p.L734L|EPHA5_ENST00000354839.4_Silent_p.L875L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGCTTGGCAGACGATAGCCT	0.433										TSP Lung(17;0.13)																																							0													97	82	87					4																	66201813		2203	4299	6502	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2689C>T	4.37:g.66201813G>A			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L897	ENST00000273854.3	37	c.2689	CCDS3513.1	4																																																																																			EPHA5	-	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66201813	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66201813	G	A	66201813	2	1	107	1	0	0	0	0	0	0	0	1	5182	933	33	1		1	EPHA5	4	66201813	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	57972941	66201813	124952463	47	15888										
FAM13A	10144	genome.wustl.edu	37	chr4	89772307	89772307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cagtactctgtgggcctgaaTagatccctcactcctggatt	9	12	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:89772307T>C	ENST00000264344.5	-	7	1078	c.871A>G	c.(871-873)Att>Gtt	p.I291V	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	291					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TGGGCCTGAATAGATCCCTCA	0.418																																																	0													98	104	102					4																	89772307		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.871A>G	4.37:g.89772307T>C	ENSP00000264344:p.Ile291Val		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.I291V	ENST00000264344.5	37	c.871	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	T	0.461	-0.888966	0.02511	.	.	ENSG00000138640	ENST00000264344	T	0.18502	2.21	4.42	-2.23	0.06930	.	0.526403	0.18060	N	0.152998	T	0.07728	0.0194	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.13470	T	0.59	.	0.8368	0.01141	0.157:0.2644:0.1624:0.4162	.	291	O94988	FA13A_HUMAN	V	291	ENSP00000264344:I291V	ENSP00000264344:I291V	I	-	1	0	FAM13A	89991330	0.015000	0.18098	0.000000	0.03702	0.025000	0.11179	-0.409000	0.07160	-0.356000	0.08187	-1.132000	0.01976	ATT	FAM13A	-	NULL		0.418	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	T			89772307	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	missense	SNP	0.000	C	C	89772307	T	C	89772307	3	2	107	1	0	0	0	0	1	0	0	0	5467	1406	49	5	2305	5	FAM13A	4	89772307	Missense_Mutation	SNP	T	TCGA-EK-A2RC-01A-11D-A18J-09	23570494	89772307	101381969	48	15889										
NHEDC1	150159	genome.wustl.edu	37	chr4	103831685	103831685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	taaaccaatacgttggctgcCtaagacggcagaaacacaca	8	11	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:103831685C>T	ENST00000296422.7	-	9	1138	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	SLC9B1_ENST00000394789.3_Missense_Mutation_p.G333S|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	333					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CGTTGGCTGCCTAAGACGGCA	0.343																																																	0													51	48	49					4																	103831685		2203	4300	6503	SO:0001583	missense	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.997G>A	4.37:g.103831685C>T	ENSP00000296422:p.Gly333Ser		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.G333S	ENST00000296422.7	37	c.997	CCDS34041.1	4	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525410	0.44969	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000511253	T;T;T	0.14766	2.48;2.48;2.48	4.74	3.89	0.44902	.	0.377748	0.28989	N	0.013486	T	0.25901	0.0631	L	0.54965	1.715	0.43283	D	0.995259	P;D;P	0.55605	0.627;0.972;0.635	B;P;B	0.58266	0.329;0.836;0.396	T	0.02774	-1.1112	10	0.19590	T	0.45	-14.8877	14.9918	0.71393	0.0:0.8564:0.1436:0.0	.	101;333;333	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	S	333;333;58	ENSP00000378269:G333S;ENSP00000296422:G333S;ENSP00000425544:G58S	ENSP00000296422:G333S	G	-	1	0	SLC9B1	104051134	0.998000	0.40836	0.945000	0.38365	0.817000	0.46193	1.391000	0.34475	1.338000	0.45544	0.585000	0.79938	GGC	SLC9B1	-	pfam_Cation/H_exchanger		0.343	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	HGNC	protein_coding	OTTHUMT00000363841.1	C	NM_139173		103831685	-1	no_errors	ENST00000296422	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103831685	C	T	103831685	3	4	107	1	0	0	0	0	1	0	0	0	10424	681	24	4	666	4	NHEDC1	4	103831685	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	14059378	103831685	87322591	49	15890										
DDX60	55601	genome.wustl.edu	37	chr4	169172224	169172224	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caattcttcaccttttctttCaaattttactcgaccaaata	1	11	4	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:169172224C>G	ENST00000393743.3	-	28	4030	c.3739G>C	c.(3739-3741)Gaa>Caa	p.E1247Q	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1247	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCTTTTCTTTCAAATTTTACT	0.299																																																	0													104	109	108					4																	169172224		2201	4300	6501	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3739G>C	4.37:g.169172224C>G	ENSP00000377344:p.Glu1247Gln		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1247Q	ENST00000393743.3	37	c.3739	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	5.173	0.217537	0.09810	.	.	ENSG00000137628	ENST00000393743	T	0.42900	0.96	5.12	-10.2	0.00374	Helicase, C-terminal (2);	2.336760	0.01518	N	0.018257	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10613	-1.0622	10	0.13853	T	0.58	.	3.1731	0.06559	0.3122:0.2372:0.3583:0.0923	.	1247	Q8IY21	DDX60_HUMAN	Q	1247	ENSP00000377344:E1247Q	ENSP00000377344:E1247Q	E	-	1	0	DDX60	169408799	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-4.083000	0.00298	-1.837000	0.01189	0.467000	0.42956	GAA	DDX60	-	smart_Helicase_C,pfscan_Helicase_C		0.299	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169172224	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.000	G	G	169172224	C	G	169172224	3	3	107	1	0	0	0	0	1	0	0	0	4383	835	29	1	1443	1	DDX60	4	169172224	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	65340539	169172224	21982052	50	15891										
HTR1A	3350	genome.wustl.edu	37	chr5	63257096	63257096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gatgagcgcagcggcgcgccGgggcgtcctcttgttcacgt	16	13	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:63257096G>A	ENST00000323865.3	-	1	684	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	151					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGGCGCGCCGGGGCGTCCTC	0.647																																																	0													76	84	81					5																	63257096		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.451C>T	5.37:g.63257096G>A	ENSP00000316244:p.Arg151Trp		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.R151W	ENST00000323865.3	37	c.451	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231169	0.58777	.	.	ENSG00000178394	ENST00000323865	T	0.42900	0.96	5.6	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.052705	0.64402	D	0.000001	T	0.69949	0.3168	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75964	-0.3132	10	0.87932	D	0	.	12.8573	0.57892	0.0:0.0:0.5703:0.4297	.	151	P08908	5HT1A_HUMAN	W	151	ENSP00000316244:R151W	ENSP00000316244:R151W	R	-	1	2	HTR1A	63292852	0.994000	0.37717	1.000000	0.80357	0.932000	0.56968	0.330000	0.19715	0.682000	0.31407	0.655000	0.94253	CGG	HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257096	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63257096	G	A	63257096	3	1	107	1	0	0	0	0	1	0	0	0	7456	1115	39	2	820	2	HTR1A	5	63257096	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		63257096	117658164	51	15892										
GFM2	84340	genome.wustl.edu	37	chr5	74017486	74017486	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aaaaactaaaacatttaggtCaaaccacttctccggttgag	6	9	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:74017486C>G	ENST00000296805.3	-	21	2791	c.2334G>C	c.(2332-2334)ttG>ttC	p.L778F	GFM2_ENST00000509430.1_Missense_Mutation_p.L778F|GFM2_ENST00000345239.2_Missense_Mutation_p.L731F|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACATTTAGGTCAAACCACTTC	0.363																																																	0													96	101	99					5																	74017486		2203	4300	6503	SO:0001583	missense	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2334G>C	5.37:g.74017486C>G	ENSP00000296805:p.Leu778Phe			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L778F	ENST00000296805.3	37	c.2334	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569951	0.28003	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.64618	-0.11;0.07;-0.11	5.98	-1.7	0.08159	.	0.517604	0.20090	N	0.099462	T	0.33469	0.0864	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.004	T	0.14839	-1.0458	10	0.72032	D	0.01	0.6232	4.1231	0.10114	0.2159:0.3912:0.3176:0.0753	.	776;731;778	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	F	778;731;600;778	ENSP00000296805:L778F;ENSP00000296804:L731F;ENSP00000427004:L778F	ENSP00000296805:L778F	L	-	3	2	GFM2	74053242	0.115000	0.22152	0.000000	0.03702	0.168000	0.22595	0.642000	0.24735	-0.309000	0.08779	0.650000	0.86243	TTG	GFM2	-	NULL		0.363	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2	C	NM_032380		74017486	-1	no_errors	ENST00000296805	ensembl	human	known	70_37	missense	SNP	0.000	G	G	74017486	C	G	74017486	3	3	107	1	0	0	0	0	1	0	0	0	6361	825	29	1	9	1	GFM2	5	74017486	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	10760390	74017486	106897774	52	15893										
AQPEP	206338	genome.wustl.edu	37	chr5	115339016	115339016	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaatatgactggatattataGagttaattatgataaattag	8	1	0	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:115339016G>C	ENST00000357872.4	+	12	2100	c.1976G>C	c.(1975-1977)aGa>aCa	p.R659T	AQPEP_ENST00000395528.2_Missense_Mutation_p.R176T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		659						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGATATTATAGAGTTAATTAT	0.279																																																	0													53	60	57					5																	115339016		2198	4282	6480	SO:0001583	missense	206338																														ENST00000357872.4:c.1976G>C	5.37:g.115339016G>C	ENSP00000350541:p.Arg659Thr		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R659T	ENST00000357872.4	37	c.1976	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938737	0.73557	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.10005	2.92;2.92	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.42359	0.1199	M	0.91818	3.245	0.49299	D	0.999772	D	0.71674	0.998	D	0.69824	0.966	T	0.54193	-0.8330	10	0.72032	D	0.01	.	17.5103	0.87758	0.0:0.0:1.0:0.0	.	659	Q6Q4G3	AMPQ_HUMAN	T	176;659;648	ENSP00000378899:R176T;ENSP00000350541:R659T	ENSP00000350541:R659T	R	+	2	0	AC010282.1	115366915	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.206000	0.65192	2.498000	0.84270	0.460000	0.39030	AGA	AQPEP	-	NULL		0.279	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	G			115339016	1	no_errors	ENST00000357872	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115339016	G	C	115339016	3	2	107	1	0	0	0	0	1	0	0	0	834	942	33	1	2022	1	AQPEP	5	115339016	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	41321530	115339016	65576244	53	15894										
ANKHD1	54882	genome.wustl.edu	37	chr5	139889366	139889366	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caatagcagcagacaaaggtCactacaaattttgtgaactc	7	9	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:139889366C>T	ENST00000360839.2	+	21	4064	c.3910C>T	c.(3910-3912)Cac>Tac	p.H1304Y	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1304Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.H1304Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1304						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACAAAGGTCACTACAAATT	0.373																																																	0													79	74	76					5																	139889366		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3910C>T	5.37:g.139889366C>T	ENSP00000354085:p.His1304Tyr		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.H1304Y	ENST00000360839.2	37	c.3910	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573171	0.86542	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.112301	0.64402	D	0.000013	T	0.75361	0.3839	L	0.45744	1.44	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.994;0.996;0.991;0.991	D;D;D;D;D	0.78314	0.985;0.991;0.952;0.988;0.988	T	0.75045	-0.3456	10	0.54805	T	0.06	.	19.7382	0.96215	0.0:1.0:0.0:0.0	.	515;1304;1323;1304;1304	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	Y	1304;1337;1304;1304;838;515;1323;457;1304	ENSP00000354085:H1304Y;ENSP00000297183:H1304Y;ENSP00000394489:H1323Y;ENSP00000405602:H457Y;ENSP00000432016:H1304Y	ENSP00000432016:H1304Y	H	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139869550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.741000	0.93983	0.585000	0.79938	CAC	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139889366	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139889366	C	T	139889366	3	4	107	1	0	0	0	0	1	0	0	0	628	826	29	1	4098	1	ANKHD1	5	139889366	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	24550350	139889366	41025894	54	15895										
ARAP3	64411	genome.wustl.edu	37	chr5	141033523	141033523	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgctggtcctagggtcatgtGaggggctggctggagggtgg	21	6	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:141033523G>C	ENST00000239440.4	-	33	4694	c.4629C>G	c.(4627-4629)ctC>ctG	p.L1543L	ARAP3_ENST00000513878.1_Silent_p.L1192L|ARAP3_ENST00000508305.1_Silent_p.L1374L|FCHSD1_ENST00000522783.1_5'Flank|FCHSD1_ENST00000435817.2_5'Flank|FCHSD1_ENST00000519800.1_5'Flank|ARAP3_ENST00000512390.1_5'UTR|FCHSD1_ENST00000522126.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1543					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGGTCATGTGAGGGGCTGGC	0.607																																																	0													51	57	55					5																	141033523		2200	4291	6491	SO:0001819	synonymous_variant	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4629C>G	5.37:g.141033523G>C			B4DIT1|D3DQE3	Silent	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1543	ENST00000239440.4	37	c.4629	CCDS4266.1	5																																																																																			ARAP3	-	NULL		0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141033523	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	silent	SNP	1.000	C	C	141033523	G	C	141033523	2	2	107	1	0	0	0	0	0	0	0	1	840	1277	45	1		1	ARAP3	5	141033523	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1144157	141033523	39881737	55	15896										
NSD1	64324	genome.wustl.edu	37	chr5	176687059	176687059	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cttttgcctggctgctgggtCaaagatccttgcatctaata	9	10	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:176687059C>A	ENST00000439151.2	+	14	5081	c.5036C>A	c.(5035-5037)tCa>tAa	p.S1679*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1576*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1410*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1410*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1679					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S1679*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGCTGGGTCAAAGATCCTT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Nonsense(2)	cervix(2)											128	117	121					5																	176687059		2203	4300	6503	SO:0001587	stop_gained	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5036C>A	5.37:g.176687059C>A	ENSP00000395929:p.Ser1679*		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1679*	ENST00000439151.2	37	c.5036	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	44	11.050354	0.99508	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.783	0.96424	0.0:1.0:0.0:0.0	.	.	.	.	X	1410;1679;1410;1576	.	ENSP00000343209:S1410X	S	+	2	0	NSD1	176619665	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.281000	0.72632	2.752000	0.94435	0.467000	0.42956	TCA	NSD1	-	smart_Znf_PHD		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176687059	1	no_errors	ENST00000439151	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	176687059	C	A	176687059	4	1	107	1	0	0	0	0	0	1	0	0	10693	838	29	3	5086	3	NSD1	5	176687059	Nonsense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	35653536	176687059	4228201	56	15897										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34835377	34835377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtgggactctggcagttcctGcatggacagtgcccaggtaa	14	10	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:34835377G>A	ENST00000192788.5	+	17	3873	c.3702G>A	c.(3700-3702)ctG>ctA	p.L1234L	UHRF1BP1_ENST00000452449.2_Silent_p.L1234L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1234							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGCAGTTCCTGCATGGACAGT	0.537																																																	0													89	90	90					6																	34835377		2107	4226	6333	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3702G>A	6.37:g.34835377G>A			Q9NXE0	Silent	SNP	NULL	p.L1234	ENST00000192788.5	37	c.3702	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34835377	1	no_errors	ENST00000192788	ensembl	human	known	70_37	silent	SNP	0.997	A	A	34835377	G	A	34835377	2	1	107	1	0	0	0	0	0	0	0	1	16999	1306	46	4		4	UHRF1BP1	6	34835377	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		34835377	136279690	57	15898										
AHI1	54806	genome.wustl.edu	37	chr6	135751040	135751040	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atccggagatccataattctCaaagtactgtctttggtatg	8	8	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:135751040C>G	ENST00000367800.4	-	16	2688	c.2472G>C	c.(2470-2472)ttG>ttC	p.L824F	AHI1_ENST00000457866.2_Missense_Mutation_p.L824F|AHI1_ENST00000417892.2_Missense_Mutation_p.L178F|AHI1_ENST00000327035.6_Missense_Mutation_p.L824F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	824					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCATAATTCTCAAAGTACTGT	0.308																																																	0													56	54	55					6																	135751040		1811	4074	5885	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2472G>C	6.37:g.135751040C>G	ENSP00000356774:p.Leu824Phe		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.L824F	ENST00000367800.4	37	c.2472	CCDS47483.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.411232|3.411232	0.62399|0.62399	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.43;-0.43;-0.43|.	4.92|4.92	0.859|0.859	0.19036|0.19036	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.52645|.	0.1747|.	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.79784|.	0.993;0.984;0.96|.	T|.	0.54741|.	-0.8248|.	10|.	0.87932|.	D|.	0|.	-8.0532|-8.0532	6.1108|6.1108	0.20100|0.20100	0.0:0.5794:0.1279:0.2927|0.0:0.5794:0.1279:0.2927	.|.	824;824;824|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	F|S	824;824;178;824;824;824|324	ENSP00000356774:L824F;ENSP00000388650:L824F;ENSP00000416867:L178F;ENSP00000265602:L824F;ENSP00000322478:L824F|.	ENSP00000265602:L824F|.	L|X	-|-	3|2	2|2	AHI1|AHI1	135792733|135792733	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.241000|0.241000	0.18065|0.18065	0.470000|0.470000	0.27294|0.27294	0.585000|0.585000	0.79938|0.79938	TTG|TGA	AHI1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.308	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651		135751040	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135751040	C	G	135751040	3	3	107	1	0	0	0	0	1	0	0	0	413	825	29	1	1223	1	AHI1	6	135751040	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	100915663	135751040	35364027	58	15899										
OPRM1	4988	genome.wustl.edu	37	chr6	154414441	154414441	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ccctgtcttgctgggctctaGagcaaggctgcttggttgtg	14	10	2	1	rs199942335		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:154414441G>C	ENST00000330432.7	+	3	1401				OPRM1_ENST00000229768.5_Missense_Mutation_p.E401Q|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000522555.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTGGGCTCTAGAGCAAGGCTG	0.463																																																	0								G	,,,,,,,,,,,GLN/GLU	1,3921		0,1,1960	222	212	215		,,,,,,,,,,,1201	2.7	0	6		215	0,8316		0,0,4158	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1,NM_001008505.1	,,,,,,,,,,,29	0,1,6118	CC,CG,GG		0.0,0.0255,0.0082	,,,,,,,,,,,benign	,,,,,,,,,,,401/447	154414441	1,12237	1961	4158	6119	SO:0001627	intron_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1834G>C	6.37:g.154414441G>C			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.E401Q	ENST00000330432.7	37	c.1201	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285010	0.23392	2.55E-4	0.0	ENSG00000112038	ENST00000229768	T	0.71103	-0.54	3.58	2.7	0.31948	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	0.999997	B	0.25105	0.118	B	0.15052	0.012	T	0.34304	-0.9834	8	0.02654	T	1	.	6.8726	0.24129	0.1268:0.0:0.8732:0.0	.	401	P35372-3	.	Q	401	ENSP00000229768:E401Q	ENSP00000229768:E401Q	E	+	1	0	OPRM1	154456134	0.002000	0.14202	0.005000	0.12908	0.007000	0.05969	0.841000	0.27613	1.093000	0.41377	0.655000	0.94253	GAG	OPRM1	-	NULL		0.463	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154414441	1	no_errors	ENST00000229768	ensembl	human	known	70_37	missense	SNP	0.004	C	C	154414441	G	C	154414441	1	2	107	0	1	0	0	0	0	0	0	0	10911	943	33	1		1	OPRM1	6	154414441	Intron	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	18663401	154414441	16700626	59	15900										
SNX9	51429	genome.wustl.edu	37	chr6	158288594	158288594	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gataggctcgggttatgtatGattttgctgctgaacctgga	13	6	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:158288594G>C	ENST00000392185.3	+	2	199	c.28G>C	c.(28-30)Gat>Cat	p.D10H		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	10	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GGTTATGTATGATTTTGCTGC	0.388																																																	0													176	146	156					6																	158288594		2203	4300	6503	SO:0001583	missense	51429			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.28G>C	6.37:g.158288594G>C	ENSP00000376024:p.Asp10His		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.D10H	ENST00000392185.3	37	c.28	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655584	0.67586	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.67698	-0.28	5.43	4.37	0.52481	Src homology-3 domain (4);	0.105037	0.64402	D	0.000007	D	0.83179	0.5198	H	0.95917	3.74	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	D	0.87841	0.2651	10	0.87932	D	0	-3.2178	12.03	0.53392	0.0978:0.0:0.9022:0.0	.	10	Q9Y5X1	SNX9_HUMAN	H	10	ENSP00000376024:D10H	ENSP00000376024:D10H	D	+	1	0	SNX9	158208582	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.346000	0.59367	2.062000	0.61559	0.533000	0.62120	GAT	SNX9	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Snx9,pfscan_SH3_domain		0.388	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1	G			158288594	1	no_errors	ENST00000392185	ensembl	human	known	70_37	missense	SNP	1.000	C	C	158288594	G	C	158288594	3	2	107	1	0	0	0	0	1	0	0	0	14939	1290	45	1	34	1	SNX9	6	158288594	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	3874153	158288594	12826473	60	15901										
T	6862	genome.wustl.edu	37	chr6	166579199	166579199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctctgtccttctcacctcctCgttctgataagcagtcaccg	6	16	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:166579199C>T	ENST00000296946.2	-	4	1069	c.601G>A	c.(601-603)Gag>Aag	p.E201K	T_ENST00000366871.3_Missense_Mutation_p.E201K	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	201					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCACCTCCTCGTTCTGATAA	0.597									Chordoma, Familial Clustering of																																								0													216	190	199					6																	166579199		2203	4300	6503	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.601G>A	6.37:g.166579199C>T	ENSP00000296946:p.Glu201Lys		E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.E201K	ENST00000296946.2	37	c.601	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.058649	0.93846	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.88277	-2.36;-2.36;-2.36	5.04	4.17	0.49024	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.89715	3.055	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.994	D;D;D	0.68192	0.944;0.956;0.944	D	0.94776	0.7949	10	0.72032	D	0.01	.	13.9227	0.63942	0.1532:0.8468:0.0:0.0	.	201;201;201	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	K	201	ENSP00000355841:E201K;ENSP00000296946:E201K;ENSP00000355836:E201K	ENSP00000296946:E201K	E	-	1	0	T	166499189	1.000000	0.71417	0.942000	0.38095	0.981000	0.71138	5.583000	0.67484	1.104000	0.41587	0.561000	0.74099	GAG	T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.597	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	C	NM_003181		166579199	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	missense	SNP	0.963	T	T	166579199	C	T	166579199	3	4	107	1	0	0	0	0	1	0	0	0	15518	893	31	1	730	1	T	6	166579199	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	8290605	166579199	4535868	61	15902										
SDK1	221935	genome.wustl.edu	37	chr7	4213923	4213923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	actacagggagctggagtatGaagccgggtcaggcactgag	16	8	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:4213923G>A	ENST00000404826.2	+	33	5009	c.4870G>A	c.(4870-4872)Gaa>Aaa	p.E1624K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1624K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1624	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTGGAGTATGAAGCCGGGTC	0.552																																																	0													205	199	201					7																	4213923		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4870G>A	7.37:g.4213923G>A	ENSP00000385899:p.Glu1624Lys		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1624K	ENST00000404826.2	37	c.4870	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086665	0.55861	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58506	0.33;0.33	4.91	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.076952	0.49916	D	0.000121	T	0.61248	0.2332	L	0.59436	1.845	0.43211	D	0.995073	P;P;P	0.48998	0.837;0.776;0.918	B;P;P	0.49140	0.363;0.601;0.532	T	0.58103	-0.7695	10	0.20519	T	0.43	.	16.282	0.82694	0.0:0.0:1.0:0.0	.	1624;111;1624	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1624	ENSP00000385899:E1624K;ENSP00000374182:E1624K	ENSP00000374182:E1624K	E	+	1	0	SDK1	4180449	0.999000	0.42202	0.606000	0.28943	0.484000	0.33280	3.748000	0.55142	2.265000	0.75225	0.462000	0.41574	GAA	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	G	NM_152744		4213923	1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.956	A	A	4213923	G	A	4213923	3	1	107	1	0	0	0	0	1	0	0	0	13998	1291	45	1	5000	1	SDK1	7	4213923	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		4213923	154924740	62	15903										
WIPI2	26100	genome.wustl.edu	37	chr7	5254158	5254158	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	acgcatgtacttccctttgtGatttcagccgatacggaaga	9	10	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:5254158G>C	ENST00000288828.4	+	4	443				WIPI2_ENST00000404704.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000484262.1_Silent_p.V9V|WIPI2_ENST00000401525.3_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2						autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTCCCTTTGTGATTTCAGCCG	0.507																																																	0													214	185	195					7																	5254158		2203	4300	6503	SO:0001627	intron_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.212-8G>C	7.37:g.5254158G>C			B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V9	ENST00000288828.4	37	c.27	CCDS5339.1	7																																																																																			WIPI2	-	NULL		0.507	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	G	NM_015610		5254158	1	no_errors	ENST00000484262	ensembl	human	known	70_37	silent	SNP	0.000	C	C	5254158	G	C	5254158	1	2	107	0	1	0	0	0	0	0	0	0	17402	1277	45	1		1	WIPI2	7	5254158	Intron	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1040235	5254158	153884505	63	15904										
GNAI1	2770	genome.wustl.edu	37	chr7	79840295	79840295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctcttaacagaatgtttgatGtgggaggtcagagatctgag	13	5	3	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:79840295G>A	ENST00000351004.3	+	6	974	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	GNAI1_ENST00000457358.2_Missense_Mutation_p.V149M	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	201					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AATGTTTGATGTGGGAGGTCA	0.408																																																	0													152	131	138					7																	79840295		2203	4300	6503	SO:0001583	missense	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.601G>A	7.37:g.79840295G>A	ENSP00000343027:p.Val201Met		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.V201M	ENST00000351004.3	37	c.601	CCDS5595.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.117920	0.94385	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.92249	-3.0;-3.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98528	1.0626	9	.	.	.	.	19.8674	0.96824	0.0:0.0:1.0:0.0	.	201	P63096	GNAI1_HUMAN	M	201;149	ENSP00000343027:V201M;ENSP00000410572:V149M	.	V	+	1	0	GNAI1	79678231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.690000	0.91761	0.655000	0.94253	GTG	GNAI1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.408	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI1	HGNC	protein_coding	OTTHUMT00000253254.1	G	NM_002069		79840295	1	no_errors	ENST00000351004	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79840295	G	A	79840295	3	1	107	1	0	0	0	0	1	0	0	0	6523	1377	48	4	623	4	GNAI1	7	79840295	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	74586137	79840295	79298368	64	15905										
DOCK4	9732	genome.wustl.edu	37	chr7	111451965	111451965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttcatttaagaagttcttacGaagtgcatctgagaggtata	9	5	3	2	rs369989375		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:111451965G>A	ENST00000437633.1	-	28	3227	c.2971C>T	c.(2971-2973)Cgt>Tgt	p.R991C	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Missense_Mutation_p.R991C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	991					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAGTTCTTACGAAGTGCATCT	0.289																																																	0								G	CYS/ARG	1,3419		0,1,1709	38	35	36		2971	4.7	1	7		36	0,7690		0,0,3845	no	missense	DOCK4	NM_014705.3	180	0,1,5554	AA,AG,GG		0.0,0.0292,0.0090	probably-damaging	991/1967	111451965	1,11109	1710	3845	5555	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2971C>T	7.37:g.111451965G>A	ENSP00000404179:p.Arg991Cys		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.R991C	ENST00000437633.1	37	c.2971	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635568	0.67130	2.92E-4	0.0	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.24538	1.85;1.85	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.55990	1.75	0.80722	D	1	D;P;D	0.57571	0.966;0.944;0.98	P;P;P	0.51999	0.608;0.489;0.687	T	0.13629	-1.0502	10	0.48119	T	0.1	.	17.6893	0.88265	0.0:0.0:1.0:0.0	.	1027;991;991	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	C	979;991;991;979;990	ENSP00000410746:R991C;ENSP00000404179:R991C	ENSP00000345432:R979C	R	-	1	0	DOCK4	111239201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.754000	0.62191	2.572000	0.86782	0.650000	0.86243	CGT	DOCK4	-	NULL		0.289	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	G	NM_014705		111451965	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111451965	G	A	111451965	3	1	107	1	0	0	0	0	1	0	0	0	4699	1058	37	1	3029	1	DOCK4	7	111451965	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	31611670	111451965	47686698	65	15906										
GRM8	2918	genome.wustl.edu	37	chr7	126544686	126544686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgataattttttcaaattctCcaggtcttggttcacgtggg	9	7	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:126544686C>G	ENST00000339582.2	-	4	1587	c.779G>C	c.(778-780)gGa>gCa	p.G260A	GRM8_ENST00000358373.3_Missense_Mutation_p.G260A|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.G260A|GRM8_ENST00000444921.2_Missense_Mutation_p.G260A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	260					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTCAAATTCTCCAGGTCTTGG	0.393										HNSCC(24;0.065)																																							0													94	93	93					7																	126544686		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.779G>C	7.37:g.126544686C>G	ENSP00000344173:p.Gly260Ala		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.G260A	ENST00000339582.2	37	c.779	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370458	0.42003	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	N	0.20766	0.605	0.80722	D	1	D;B	0.76494	0.999;0.045	D;B	0.87578	0.998;0.06	T	0.79097	-0.1943	10	0.11182	T	0.66	.	17.8349	0.88693	0.0:1.0:0.0:0.0	.	260;260	O00222-2;O00222	.;GRM8_HUMAN	A	260	ENSP00000344173:G260A;ENSP00000409790:G260A;ENSP00000351142:G260A;ENSP00000385731:G260A;ENSP00000415522:G260A	ENSP00000344173:G260A	G	-	2	0	GRM8	126331922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.445000	0.82738	0.557000	0.71058	GGA	GRM8	-	pfam_ANF_lig-bd_rcpt		0.393	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	C			126544686	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	G	G	126544686	C	G	126544686	3	3	107	1	0	0	0	0	1	0	0	0	6823	855	30	1	2029	1	GRM8	7	126544686	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	15092721	126544686	32593977	66	15907										
EPHB6	2051	genome.wustl.edu	37	chr7	142566338	142566338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gccctgtgggccgggggcgcCgaaagcctgcagatgacctt	16	13	0	2	rs117493419	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:142566338C>T	ENST00000392957.2	+	15	2914	c.2127C>T	c.(2125-2127)gcC>gcT	p.A709A	EPHB6_ENST00000442129.1_Silent_p.A709A|EPHB6_ENST00000411471.2_Silent_p.A432A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGGGGGCGCCGAAAGCCTGC	0.682													C|||	2	0.000399361	0	0	5008	,	,		16287	0.001		0.001	False		,,,				2504	0																0								C		0,4406		0,0,2203	22	24	23		2127	-9.7	0.2	7	dbSNP_133	23	2,8594		0,2,4296	no	coding-synonymous	EPHB6	NM_004445.3		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		709/1022	142566338	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2127C>T	7.37:g.142566338C>T			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A709	ENST00000392957.2	37	c.2127	CCDS5873.2	7																																																																																			EPHB6	-	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	C			142566338	1	no_errors	ENST00000392957	ensembl	human	known	70_37	silent	SNP	0.002	T	T	142566338	C	T	142566338	2	4	107	1	0	0	0	0	0	0	0	1	5190	639	23	2		2	EPHB6	7	142566338	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	16021652	142566338	16572325	67	15908										
TAS2R41	259287	genome.wustl.edu	37	chr7	143175387	143175387	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gttgggctctgtcctgatctCcttcatcataaccctgctgt	8	13	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:143175387C>G	ENST00000408916.1	+	1	422	c.422C>G	c.(421-423)tCc>tGc	p.S141C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	141					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GTCCTGATCTCCTTCATCATA	0.453																																																	0													55	54	54					7																	143175387		1900	4128	6028	SO:0001583	missense	259287			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.422C>G	7.37:g.143175387C>G	ENSP00000386201:p.Ser141Cys		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S141C	ENST00000408916.1	37	c.422	CCDS43663.1	7	.	.	.	.	.	.	.	.	.	.	C	12.52	1.964112	0.34659	.	.	ENSG00000221855	ENST00000408916	T	0.44482	0.92	5.7	5.7	0.88788	.	0.253979	0.28262	U	0.015999	T	0.66036	0.2749	M	0.85041	2.73	0.19945	N	0.999944	D	0.59357	0.985	P	0.60345	0.873	T	0.62812	-0.6775	10	0.49607	T	0.09	.	17.3112	0.87211	0.0:1.0:0.0:0.0	.	141	P59536	T2R41_HUMAN	C	141	ENSP00000386201:S141C	ENSP00000386201:S141C	S	+	2	0	TAS2R41	142885509	0.027000	0.19231	0.019000	0.16419	0.015000	0.08874	2.511000	0.45476	2.682000	0.91365	0.655000	0.94253	TCC	TAS2R41	-	pfam_TAS2_rcpt		0.453	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1	C			143175387	1	no_errors	ENST00000408916	ensembl	human	known	70_37	missense	SNP	0.124	G	G	143175387	C	G	143175387	3	3	107	1	0	0	0	0	1	0	0	0	15609	855	30	1	424	1	TAS2R41	7	143175387	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	609049	143175387	15963276	68	15909										
MLL3	58508	genome.wustl.edu	37	chr7	151917668	151917668	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttggatgtctggaggggtctGaaggacggccacgctattct	15	8	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:151917668G>A	ENST00000262189.6	-	23	3870	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1218*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1218					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGAGGGGTCTGAAGGACGGCC	0.393																																																	0													79	75	76					7																	151917668		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3652C>T	7.37:g.151917668G>A	ENSP00000262189:p.Gln1218*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1218*	ENST00000262189.6	37	c.3652	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.808691	0.99470	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.41605	U	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1218	.	ENSP00000262189:Q1218X	Q	-	1	0	MLL3	151548601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.351000	0.97073	2.161000	0.67846	0.484000	0.47621	CAG	MLL3	-	NULL		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151917668	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151917668	G	A	151917668	4	1	107	1	0	0	0	0	0	1	0	0	9645	1299	45	1	11231	1	MLL3	7	151917668	Nonsense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	8742281	151917668	7220995	69	15910										
NAT1	9	genome.wustl.edu	37	chr8	18080384	18080384	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atatttaatatttccttgcaGagaaagcttgtgcccaaaca	6	8	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:18080384G>C	ENST00000517492.1	+	3	1466	c.828G>C	c.(826-828)caG>caC	p.Q276H	NAT1_ENST00000520546.1_Missense_Mutation_p.Q276H|NAT1_ENST00000307719.4_Missense_Mutation_p.Q276H|NAT1_ENST00000518029.1_Missense_Mutation_p.Q276H|NAT1_ENST00000539092.1_Missense_Mutation_p.Q276H|NAT1_ENST00000541942.1_Missense_Mutation_p.Q276H|NAT1_ENST00000535084.1_Missense_Mutation_p.Q276H|NAT1_ENST00000545197.1_Missense_Mutation_p.Q338H			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTTCCTTGCAGAGAAAGCTTG	0.318																																																	0													33	35	35					8																	18080384		2197	4299	6496	SO:0001583	missense	9			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.828G>C	8.37:g.18080384G>C	ENSP00000429407:p.Gln276His		C9JWA6|Q86SY5	Missense_Mutation	SNP	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.Q338H	ENST00000517492.1	37	c.1014	CCDS6007.1	8	.	.	.	.	.	.	.	.	.	.	.	4.851	0.158216	0.09236	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.01787	4.64;4.64;4.64;4.64;4.64;4.64;4.64;4.64	4.21	1.25	0.21368	.	0.380125	0.24041	N	0.042091	T	0.01124	0.0037	N	0.17082	0.46	0.09310	N	1	P;P	0.42161	0.772;0.561	B;B	0.37239	0.244;0.201	T	0.52124	-0.8617	10	0.45353	T	0.12	.	4.6559	0.12617	0.2001:0.1796:0.6203:0.0	.	338;276	F5H5R8;P18440	.;ARY1_HUMAN	H	276;276;338;276;276;276;276;276	ENSP00000444609:Q276H;ENSP00000307218:Q276H;ENSP00000443194:Q338H;ENSP00000440434:Q276H;ENSP00000440900:Q276H;ENSP00000428270:Q276H;ENSP00000429407:Q276H;ENSP00000429341:Q276H	ENSP00000307218:Q276H	Q	+	3	2	NAT1	18124664	0.988000	0.35896	0.002000	0.10522	0.330000	0.28571	0.311000	0.19380	0.021000	0.15133	0.460000	0.39030	CAG	NAT1	-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase		0.318	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	HGNC	protein_coding	OTTHUMT00000374828.1	G	NM_000662		18080384	1	no_errors	ENST00000545197	ensembl	human	known	70_37	missense	SNP	0.003	C	C	18080384	G	C	18080384	3	2	107	1	0	0	0	0	1	0	0	0	10196	933	33	1	1024	1	NAT1	8	18080384	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		18080384	128283638	70	15911										
ADAM18	8749	genome.wustl.edu	37	chr8	39505933	39505933	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gatattttgtttcaaaatttGagactaaatgccttcagaag	7	5	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:39505933G>C	ENST00000265707.5	+	12	1162	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	ADAM18_ENST00000379866.1_Missense_Mutation_p.E349Q|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCAAAATTTGAGACTAAATG	0.348																																																	0													63	64	63					8																	39505933		2203	4300	6503	SO:0001583	missense	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1117G>C	8.37:g.39505933G>C	ENSP00000265707:p.Glu373Gln		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E373Q	ENST00000265707.5	37	c.1117	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	G	7.567	0.665998	0.14710	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63417	-0.04;-0.04	5.4	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.639474	0.13867	N	0.357285	T	0.61073	0.2318	L	0.58810	1.83	0.23016	N	0.998422	B;B	0.28760	0.185;0.221	B;B	0.39771	0.281;0.309	T	0.50906	-0.8772	10	0.13853	T	0.58	.	10.1732	0.42922	0.0915:0.0:0.9085:0.0	.	349;373	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	Q	373;349;305	ENSP00000265707:E373Q;ENSP00000369195:E349Q	ENSP00000265707:E373Q	E	+	1	0	ADAM18	39625090	0.012000	0.17670	0.035000	0.18076	0.155000	0.21991	1.867000	0.39499	2.803000	0.96430	0.585000	0.79938	GAG	ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.348	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	G	NM_014237		39505933	1	no_errors	ENST00000265707	ensembl	human	known	70_37	missense	SNP	0.004	C	C	39505933	G	C	39505933	3	2	107	1	0	0	0	0	1	0	0	0	239	1291	45	1	1163	1	ADAM18	8	39505933	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	21425549	39505933	106858089	71	15912										
NPBWR1	2831	genome.wustl.edu	37	chr8	53852812	53852812	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgcaagctcatcgtggctatCgaccagtacaacaccttctc	7	14	2	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:53852812C>T	ENST00000331251.3	+	1	1822	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	115					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TCGTGGCTATCGACCAGTACA	0.637																																																	0													50	44	46					8																	53852812		2203	4300	6503	SO:0001819	synonymous_variant	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.345C>T	8.37:g.53852812C>T			Q6NTC7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.I115	ENST00000331251.3	37	c.345	CCDS6151.1	8																																																																																			NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.637	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	C	NM_005285		53852812	1	no_errors	ENST00000331251	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53852812	C	T	53852812	2	4	107	1	0	0	0	0	0	0	0	1	10592	874	31	1		1	NPBWR1	8	53852812	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	14346879	53852812	92511210	72	15913										
CNGB3	54714	genome.wustl.edu	37	chr8	87588313	87588313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	attttctttttgtttatcttCattttcttttccttcttcct	1	9	5	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:87588313C>T	ENST00000320005.5	-	18	2196	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	717					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tgtttatcttcattttctttt	0.313																																																	0													66	68	67					8																	87588313		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2149G>A	8.37:g.87588313C>T	ENSP00000316605:p.Glu717Lys		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E717K	ENST00000320005.5	37	c.2149	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280428	0.23392	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	3.04	2.15	0.27550	.	7.689020	0.03490	U	0.216411	T	0.35008	0.0917	N	0.08118	0	0.19775	N	0.99996	B;B	0.26483	0.15;0.093	B;B	0.23852	0.049;0.022	T	0.25537	-1.0129	10	0.07175	T	0.84	.	8.0946	0.30820	0.0:0.8759:0.0:0.1241	.	712;717	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	K	717	ENSP00000316605:E717K	ENSP00000316605:E717K	E	-	1	0	CNGB3	87657429	0.002000	0.14202	0.166000	0.22797	0.607000	0.37147	-0.383000	0.07398	0.830000	0.34757	0.446000	0.29264	GAA	CNGB3	-	NULL		0.313	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	C	NM_019098		87588313	-1	no_errors	ENST00000320005	ensembl	human	known	70_37	missense	SNP	0.389	T	T	87588313	C	T	87588313	3	4	107	1	0	0	0	0	1	0	0	0	3606	835	29	1	284	1	CNGB3	8	87588313	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	33735501	87588313	58775709	73	15914										
SCRIB	23513	genome.wustl.edu	37	chr8	144891727	144891727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctgccaatccacacctcctgGtagtcctcttcggcgtcttc	7	17	2	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:144891727G>A	ENST00000320476.3	-	14	1698	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SCRIB_ENST00000356994.2_Silent_p.Y564Y|SCRIB_ENST00000377533.3_Silent_p.Y483Y	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	564	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACCTCCTGGTAGTCCTCTT	0.687																																					Pancreas(51;966 1133 10533 14576 29674)												0													78	74	76					8																	144891727		2203	4300	6503	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1692C>T	8.37:g.144891727G>A			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Y564	ENST00000320476.3	37	c.1692	CCDS6411.1	8																																																																																			SCRIB	-	NULL		0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144891727	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	silent	SNP	0.337	A	A	144891727	G	A	144891727	2	1	107	1	0	0	0	0	0	0	0	1	13967	1256	44	4		4	SCRIB	8	144891727	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	57303414	144891727	1472295	74	15915										
SCRIB	23513	genome.wustl.edu	37	chr8	144894477	144894477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gatcagctcagagaggttctCacagtccccgatggcctcgg	12	13	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:144894477C>G	ENST00000320476.3	-	9	871	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	SCRIB_ENST00000356994.2_Missense_Mutation_p.E289Q|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.E208Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	289	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAGAGGTTCTCACAGTCCCCG	0.602																																					Pancreas(51;966 1133 10533 14576 29674)												0													165	143	150					8																	144894477		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.865G>C	8.37:g.144894477C>G	ENSP00000322938:p.Glu289Gln		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E289Q	ENST00000320476.3	37	c.865	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072496	0.55646	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.51325	2.24;0.71;1.87	4.21	4.21	0.49690	.	.	.	.	.	T	0.48429	0.1499	N	0.05441	-0.05	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.954;0.99	T	0.57412	-0.7816	9	0.45353	T	0.12	.	15.7224	0.77724	0.0:1.0:0.0:0.0	.	289;289	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	289;289;208	ENSP00000349486:E289Q;ENSP00000322938:E289Q;ENSP00000366756:E208Q	ENSP00000322938:E289Q	E	-	1	0	SCRIB	144966465	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.468000	0.80943	2.145000	0.66743	0.563000	0.77884	GAG	SCRIB	-	NULL		0.602	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144894477	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144894477	C	G	144894477	3	3	107	1	0	0	0	0	1	0	0	0	13967	835	29	1	4218	1	SCRIB	8	144894477	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	2750	144894477	1469545	75	15916										
CNTLN	54875	genome.wustl.edu	37	chr9	17502646	17502646	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cacaattatgaaagatattaGatgatattaaaatggagagc	8	3	0	5			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:17502646G>C	ENST00000380647.3	+	26	4301	c.4217G>C	c.(4216-4218)aGa>aCa	p.R1406T	CNTLN_ENST00000425824.1_Missense_Mutation_p.R1406T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAGATATTAGATGATATTAA	0.323																																																	0													29	26	27					9																	17502646		1777	4044	5821	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4217G>C	9.37:g.17502646G>C	ENSP00000370021:p.Arg1406Thr		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.R1406T	ENST00000380647.3	37	c.4217	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214879	0.39102	.	.	ENSG00000044459	ENST00000380647;ENST00000425824	T;T	0.19669	2.13;2.13	5.63	4.73	0.59995	.	.	.	.	.	T	0.13415	0.0325	N	0.19112	0.55	0.52099	D	0.999941	B	0.20671	0.047	B	0.17979	0.02	T	0.05903	-1.0857	9	0.72032	D	0.01	.	7.4574	0.27274	0.0912:0.1685:0.7403:0.0	.	1406	Q9NXG0-2	.	T	1406	ENSP00000370021:R1406T;ENSP00000392798:R1406T	ENSP00000370021:R1406T	R	+	2	0	CNTLN	17492646	0.997000	0.39634	0.929000	0.37066	0.982000	0.71751	1.281000	0.33214	1.350000	0.45770	0.655000	0.94253	AGA	CNTLN	-	NULL		0.323	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17502646	1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.555	C	C	17502646	G	C	17502646	3	2	107	1	0	0	0	0	1	0	0	0	3644	942	33	1	4349	1	CNTLN	9	17502646	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		17502646	123710785	76	15917										
TOPORS	10210	genome.wustl.edu	37	chr9	32542047	32542047	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caattttgatgaagatttttGgtaatgactgtcctttgctt	8	5	0	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:32542047G>A	ENST00000360538.2	-	3	2592	c.2476C>T	c.(2476-2478)Caa>Taa	p.Q826*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.Q761*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	826	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GAAGATTTTTGGTAATGACTG	0.398																																																	0													141	137	138					9																	32542047		2203	4300	6503	SO:0001587	stop_gained	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2476C>T	9.37:g.32542047G>A	ENSP00000353735:p.Gln826*		O43273|Q6P987|Q9NS55|Q9UNR9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q826*	ENST00000360538.2	37	c.2476	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.093792	0.97276	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	.	.	.	5.61	3.63	0.41609	.	0.482941	0.18048	N	0.153397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-2.6886	10.4513	0.44524	0.0796:0.1338:0.7866:0.0	.	.	.	.	X	826;761	.	ENSP00000353735:Q826X	Q	-	1	0	TOPORS	32532047	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.631000	0.37092	1.470000	0.48102	0.650000	0.86243	CAA	TOPORS	-	NULL		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	G	NM_005802		32542047	-1	no_errors	ENST00000360538	ensembl	human	known	70_37	nonsense	SNP	0.646	A	A	32542047	G	A	32542047	4	1	107	1	0	0	0	0	0	1	0	0	16401	1357	47	4	665	4	TOPORS	9	32542047	Nonsense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	15039401	32542047	108671384	77	15918										
TAF1L	138474	genome.wustl.edu	37	chr9	32631420	32631420	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atggacttatgaggtatattCaaatagtcacaatgaacagt	8	5	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:32631420C>G	ENST00000242310.4	-	1	4247	c.4158G>C	c.(4156-4158)ttG>ttC	p.L1386F	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1386					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGGTATATTCAAATAGTCAC	0.458																																																	0													240	232	235					9																	32631420		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4158G>C	9.37:g.32631420C>G	ENSP00000418379:p.Leu1386Phe		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L1386F	ENST00000242310.4	37	c.4158	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509056	0.44660	.	.	ENSG00000122728	ENST00000242310	T	0.19250	2.16	0.479	0.479	0.16796	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	M	0.64997	1.995	0.46356	D	0.999003	D	0.89917	1.0	D	0.85130	0.997	T	0.12941	-1.0528	10	0.87932	D	0	.	3.4488	0.07490	0.449:0.5509:1.0E-4:1.0E-4	.	1386	Q8IZX4	TAF1L_HUMAN	F	1386	ENSP00000418379:L1386F	ENSP00000418379:L1386F	L	-	3	2	TAF1L	32621420	1.000000	0.71417	0.989000	0.46669	0.413000	0.31143	0.413000	0.21148	0.507000	0.28148	0.195000	0.17529	TTG	TAF1L	-	pirsf_TAF1_animal,superfamily_Bromodomain		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32631420	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32631420	C	G	32631420	3	3	107	1	0	0	0	0	1	0	0	0	15553	825	29	1	1326	1	TAF1L	9	32631420	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	89373	32631420	108582011	78	15919										
BAAT	570	genome.wustl.edu	37	chr9	104133675	104133675	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcactcacaggggtagctgtCaactggatcatttttttagt	10	8	3	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:104133675C>G	ENST00000395051.3	-	1	82	c.12G>C	c.(10-12)ttG>ttC	p.L4F	BAAT_ENST00000259407.2_Missense_Mutation_p.L4F			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	4					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGGTAGCTGTCAACTGGATCA	0.443																																																	0													57	52	54					9																	104133675		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.12G>C	9.37:g.104133675C>G	ENSP00000378491:p.Leu4Phe		Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.L4F	ENST00000395051.3	37	c.12	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217534	0.22373	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.62498	0.02;0.02	4.41	1.23	0.21249	.	0.350263	0.20850	N	0.084554	T	0.74351	0.3705	M	0.89904	3.07	0.26357	N	0.977107	D	0.71674	0.998	D	0.65684	0.937	T	0.64232	-0.6456	10	0.62326	D	0.03	-3.7481	0.7627	0.01009	0.1946:0.3927:0.1889:0.2238	.	4	Q14032	BAAT_HUMAN	F	4	ENSP00000259407:L4F;ENSP00000378491:L4F	ENSP00000259407:L4F	L	-	3	2	BAAT	103173496	0.424000	0.25490	0.730000	0.30809	0.017000	0.09413	0.232000	0.17891	0.457000	0.26962	-0.136000	0.14681	TTG	BAAT	-	pirsf_Acyl-CoA_thioEstase_long-chain		0.443	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	C			104133675	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	missense	SNP	0.560	G	G	104133675	C	G	104133675	3	3	107	1	0	0	0	0	1	0	0	0	1281	825	29	1	1256	1	BAAT	9	104133675	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	71502255	104133675	37079756	79	15920										
OR13D1	286365	genome.wustl.edu	37	chr9	107457367	107457367	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ccttctaaaacttgtttgttCagatatcaccatcaatgtgc	5	10	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:107457367C>G	ENST00000318763.5	+	1	708	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTTGTTTGTTCAGATATCACC	0.343																																																	0													182	175	177					9																	107457367		2203	4300	6503	SO:0001587	stop_gained	286365				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.665C>G	9.37:g.107457367C>G	ENSP00000317357:p.Ser222*		B9EIS1|Q6IFL1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S222*	ENST00000318763.5	37	c.665	CCDS35094.1	9	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334032	0.41297	.	.	ENSG00000179055	ENST00000318763	.	.	.	3.87	1.89	0.25635	.	0.662605	0.11101	U	0.599690	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.6773	0.23102	0.0:0.7026:0.1863:0.1111	.	.	.	.	X	222	.	ENSP00000317357:S222X	S	+	2	0	OR13D1	106497188	0.000000	0.05858	0.827000	0.32855	0.502000	0.33828	0.168000	0.16622	1.979000	0.57680	0.511000	0.50034	TCA	OR13D1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.343	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	C			107457367	1	no_errors	ENST00000318763	ensembl	human	known	70_37	nonsense	SNP	0.201	G	G	107457367	C	G	107457367	4	3	107	1	0	0	0	0	0	1	0	0	10964	838	29	1	667	1	OR13D1	9	107457367	Nonsense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	3323692	107457367	33756064	80	15921										
DNM1	1759	genome.wustl.edu	37	chr9	130984795	130984795	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcattgagggctcaggagatCagatcgacacctacgaactg	12	10	2	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:130984795C>A	ENST00000372923.3	+	8	1140	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	DNM1_ENST00000486160.1_Missense_Mutation_p.Q350K|DNM1_ENST00000393594.3_Missense_Mutation_p.Q350K|DNM1_ENST00000475805.1_Missense_Mutation_p.Q350K|DNM1_ENST00000341179.7_Missense_Mutation_p.Q350K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	350					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.Q350E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCAGGAGATCAGATCGACAC	0.607																																					GBM(113;146 1575 2722 28670 29921)												2	Substitution - Missense(2)	lung(2)											91	87	88					9																	130984795		2203	4300	6503	SO:0001583	missense	1759			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1048C>A	9.37:g.130984795C>A	ENSP00000362014:p.Gln350Lys		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.Q350K	ENST00000372923.3	37	c.1048	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497415	0.85069	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	N	0.12569	0.235	0.80722	D	1	D;D;D	0.59767	0.985;0.971;0.986	D;P;D	0.73708	0.981;0.79;0.979	T	0.74262	-0.3722	10	0.37606	T	0.19	-0.8561	20.5596	0.99324	0.0:1.0:0.0:0.0	.	350;350;350	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	K	350;350;350;345;350;350	ENSP00000419225:Q350K;ENSP00000345680:Q350K;ENSP00000362014:Q350K;ENSP00000377219:Q350K;ENSP00000420045:Q350K	ENSP00000345680:Q350K	Q	+	1	0	DNM1	130024616	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.999000	0.70665	2.868000	0.98415	0.555000	0.69702	CAG	DNM1	-	pfam_Dynamin_central		0.607	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	C	NM_004408		130984795	1	no_errors	ENST00000372923	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130984795	C	A	130984795	3	1	107	1	0	0	0	0	1	0	0	0	4680	827	29	3	1078	3	DNM1	9	130984795	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	23527428	130984795	10228636	81	15922										
SPTAN1	6709	genome.wustl.edu	37	chr9	131346188	131346188	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gattacggcaaagatcttacCaatgtgcagaacctccagaa	8	10	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:131346188C>G	ENST00000372731.4	+	16	2243	c.2133C>G	c.(2131-2133)acC>acG	p.T711T	SPTAN1_ENST00000372739.3_Silent_p.T711T|SPTAN1_ENST00000358161.5_Silent_p.T711T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	711					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGATCTTACCAATGTGCAGA	0.468																																					NSCLC(120;833 1744 2558 35612 37579)												0													128	115	120					9																	131346188		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2133C>G	9.37:g.131346188C>G			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.T711	ENST00000372731.4	37	c.2133	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131346188	1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	0.995	G	G	131346188	C	G	131346188	2	3	107	1	0	0	0	0	0	0	0	1	15147	581	21	4		4	SPTAN1	9	131346188	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	361393	131346188	9867243	82	15923										
FNBP1	23048	genome.wustl.edu	37	chr9	132658209	132658209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaatgcgggtccagccatcgCctttgtcttcctctatgaca	9	13	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:132658209C>T	ENST00000446176.2	-	16	1940	c.1754G>A	c.(1753-1755)gGc>gAc	p.G585D	FNBP1_ENST00000420781.1_Missense_Mutation_p.G576D|FNBP1_ENST00000355681.3_Missense_Mutation_p.G556D|FNBP1_ENST00000443566.2_Missense_Mutation_p.G213D	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	585	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CCAGCCATCGCCTTTGTCTTC	0.423			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													114	107	109					9																	132658209		1927	4133	6060	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1754G>A	9.37:g.132658209C>T	ENSP00000413625:p.Gly585Asp		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.G585D	ENST00000446176.2	37	c.1754	CCDS48040.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.885338|4.885338	0.91814|0.91814	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Src homology-3 domain (4);	.|0.098573	.|0.64402	.|D	.|0.000001	T|T	0.62624|0.62624	0.2443|0.2443	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.971;1.0;1.0;0.993;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.962;1.0;1.0;0.951;0.991;1.0;0.999;0.999	T|T	0.65327|0.65327	-0.6195|-0.6195	5|10	.|0.87932	.|D	.|0	-32.5647|-32.5647	17.8863|17.8863	0.88855|0.88855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|580;575;213;519;556;536;580;585	.|B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;.;FNBP1_HUMAN	T|D	537|585;585;576;585;213;556	.|ENSP00000413625:G585D;ENSP00000407548:G576D;ENSP00000389117:G213D;ENSP00000347907:G556D	.|ENSP00000347907:G556D	A|G	-|-	1|2	0|0	FNBP1|FNBP1	131698030|131698030	1.000000|1.000000	0.71417|0.71417	0.858000|0.858000	0.33744|0.33744	0.860000|0.860000	0.49131|0.49131	7.445000|7.445000	0.80570|0.80570	2.538000|2.538000	0.85594|0.85594	0.561000|0.561000	0.74099|0.74099	GCG|GGC	FNBP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.423	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	C			132658209	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132658209	C	T	132658209	3	4	107	1	0	0	0	0	1	0	0	0	5983	739	26	4	107	4	FNBP1	9	132658209	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	1312021	132658209	8555222	83	15924										
ASAH2	56624	genome.wustl.edu	37	chr10	51974603	51974603	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	acacatctcctaggtttgatGaagcaaaggctgctacaaat	8	9	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:51974603G>A	ENST00000395526.4	-	8	1039	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	ASAH2_ENST00000447815.1_Missense_Mutation_p.S347L|ASAH2_ENST00000443575.1_Missense_Mutation_p.S189L|ASAH2_ENST00000329428.6_Missense_Mutation_p.S328L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	347					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TAGGTTTGATGAAGCAAAGGC	0.443																																																	0													101	74	83					10																	51974603		2202	4294	6496	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1040C>T	10.37:g.51974603G>A	ENSP00000378897:p.Ser347Leu		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	pfam_Ceramidase_alk	p.S347L	ENST00000395526.4	37	c.1040	CCDS7239.2	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962410	0.92791	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.26	5.26	0.73747	.	0.064020	0.64402	D	0.000004	T	0.63850	0.2546	M	0.88640	2.97	0.58432	D	0.999998	D;P	0.58268	0.982;0.947	P;P	0.54174	0.7;0.744	T	0.71839	-0.4471	10	0.59425	D	0.04	.	16.3694	0.83347	0.0:0.0:1.0:0.0	.	347;347	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	347;347;189;328	ENSP00000378897:S347L;ENSP00000388206:S347L;ENSP00000392766:S189L;ENSP00000329886:S328L	ENSP00000329886:S328L	S	-	2	0	ASAH2	51644609	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.947000	0.93000	2.463000	0.83235	0.455000	0.32223	TCA	ASAH2	-	pfam_Ceramidase_alk		0.443	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	G	NM_019893		51974603	-1	no_errors	ENST00000395526	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51974603	G	A	51974603	3	1	107	1	0	0	0	0	1	0	0	0	1008	1294	45	1	1354	1	ASAH2	10	51974603	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		51974603	83560144	84	15925										
PLAU	414236	genome.wustl.edu	37	chr10	75673834	75673834	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aagtttgaggtggaaaacctCatcctacacaaggactacag	9	9	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:75673834C>T	ENST00000409178.1	-	3	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Silent_p.L242L|PLAU_ENST00000372764.3_Silent_p.L259L|PLAU_ENST00000372762.4_Silent_p.L223L	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TGGAAAACCTCATCCTACACA	0.532																																																	0													106	82	90					10																	75673834		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-1001G>A	10.37:g.75673834C>T			Q3KRG4|Q8NAK4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L259	ENST00000409178.1	37	c.777	CCDS53541.1	10																																																																																			PLAU	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.532	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	C	NM_001001791		75673834	1	no_errors	ENST00000372764	ensembl	human	known	70_37	silent	SNP	0.988	T	T	75673834	C	T	75673834	1	4	107	0	1	0	0	0	0	0	0	0	12046	813	29	1		1	PLAU	10	75673834	Intron	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	23699231	75673834	59860913	85	15926										
DMBT1	1755	genome.wustl.edu	37	chr10	124402737	124402737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttcctgaaccgcttcccctcCgtgtacctgcgttgtaaaat	7	14	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:124402737C>T	ENST00000338354.3	+	53	7171	c.7065C>T	c.(7063-7065)tcC>tcT	p.S2355S	DMBT1_ENST00000330163.4_Silent_p.S1727S|DMBT1_ENST00000344338.3_Silent_p.S2345S|DMBT1_ENST00000368909.3_Silent_p.S2355S|DMBT1_ENST00000359586.6_Silent_p.S1075S|DMBT1_ENST00000368955.3_Silent_p.S2345S|DMBT1_ENST00000368956.2_Silent_p.S1727S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTTCCCCTCCGTGTACCTGC	0.592																																					Ovarian(182;93 2026 18125 22222 38972)												0													129	134	132					10																	124402737		2070	4215	6285	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7065C>T	10.37:g.124402737C>T			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.S2484	ENST00000338354.3	37	c.7452		10																																																																																			DMBT1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124402737	1	no_errors	ENST00000368915	ensembl	human	known	70_37	silent	SNP	0.006	T	T	124402737	C	T	124402737	2	4	107	1	0	0	0	0	0	0	0	1	4587	639	23	2		2	DMBT1	10	124402737	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	48728903	124402737	11132010	86	15927										
OR2D3	120775	genome.wustl.edu	37	chr11	6942995	6942995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aagggagactcaaggcttttTccacctgtggctcccatctt	9	12	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:6942995T>G	ENST00000317834.3	+	1	791	c.763T>G	c.(763-765)Tcc>Gcc	p.S255A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGGCTTTTTCCACCTGTGG	0.453																																																	0													127	119	122					11																	6942995		2201	4296	6497	SO:0001583	missense	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.763T>G	11.37:g.6942995T>G	ENSP00000320560:p.Ser255Ala		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S255A	ENST00000317834.3	37	c.763	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691264	0.48097	.	.	ENSG00000178358	ENST00000317834	T	0.00299	8.22	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000699	T	0.00440	0.0014	M	0.82056	2.57	0.09310	N	1	P	0.39424	0.673	P	0.46275	0.51	T	0.34304	-0.9834	10	0.66056	D	0.02	-30.414	13.3025	0.60334	0.0:0.0:0.0:1.0	.	255	Q8NGH3	OR2D3_HUMAN	A	255	ENSP00000320560:S255A	ENSP00000320560:S255A	S	+	1	0	OR2D3	6899571	0.004000	0.15560	0.298000	0.25002	0.949000	0.60115	1.192000	0.32150	2.310000	0.77875	0.533000	0.62120	TCC	OR2D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	T	NM_001004684		6942995	1	no_errors	ENST00000317834	ensembl	human	known	70_37	missense	SNP	0.037	G	G	6942995	T	G	6942995	3	3	107	1	0	0	0	0	1	0	0	0	11019	1783	62	5	765	5	OR2D3	11	6942995	Missense_Mutation	SNP	T	TCGA-EK-A2RC-01A-11D-A18J-09		6942995	128063521	87	15928										
MICALCL	84953	genome.wustl.edu	37	chr11	12348766	12348766	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggaggagcggcagagggcttCtgagatccagggtgtgaggc	20	7	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:12348766C>T	ENST00000256186.2	+	6	1973	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	561					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CAGAGGGCTTCTGAGATCCAG	0.577																																																	0													55	64	61					11																	12348766		2068	4103	6171	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1682C>T	11.37:g.12348766C>T	ENSP00000256186:p.Ser561Phe		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.S561F	ENST00000256186.2	37	c.1682	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	C	1.308	-0.602854	0.03744	.	.	ENSG00000133808	ENST00000256186	T	0.40476	1.03	5.16	-0.464	0.12160	Domain of unknown function DUF3585 (1);	0.790714	0.09775	N	0.757516	T	0.32556	0.0833	L	0.36672	1.1	0.09310	N	1	B	0.21381	0.055	B	0.23852	0.049	T	0.30822	-0.9965	10	0.45353	T	0.12	.	9.8468	0.41032	0.0:0.403:0.0:0.597	.	561	Q6ZW33	MICLK_HUMAN	F	561	ENSP00000256186:S561F	ENSP00000256186:S561F	S	+	2	0	MICALCL	12305342	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.054000	0.11826	-0.241000	0.09681	-0.136000	0.14681	TCT	MICALCL	-	pfam_DUF3585		0.577	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	C	NM_032867		12348766	1	no_errors	ENST00000256186	ensembl	human	known	70_37	missense	SNP	0.000	T	T	12348766	C	T	12348766	3	4	107	1	0	0	0	0	1	0	0	0	9595	913	32	1	1700	1	MICALCL	11	12348766	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	5405771	12348766	122657750	88	15929										
CAPRIN1	4076	genome.wustl.edu	37	chr11	34097786	34097786	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tttatattgttttgcagattCagaaaacaataaagaagaca	6	4	1	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:34097786C>G	ENST00000341394.4	+	5	559	c.370C>G	c.(370-372)Cag>Gag	p.Q124E	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.Q124E|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.Q43E|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.Q124E|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.Q124E	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	124					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTTGCAGATTCAGAAAACAAT	0.323																																																	0													48	52	51					11																	34097786		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.370C>G	11.37:g.34097786C>G	ENSP00000340329:p.Gln124Glu		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.Q124E	ENST00000341394.4	37	c.370	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692654	0.88735	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.33710	1.025	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.78314	0.98;0.991	T	0.03157	-1.1066	10	0.02654	T	1	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	124;124	Q14444;Q14444-2	CAPR1_HUMAN;.	E	124;124;124;124;124;43	ENSP00000340329:Q124E;ENSP00000374296:Q124E;ENSP00000431373:Q124E;ENSP00000434150:Q124E;ENSP00000434204:Q124E;ENSP00000431581:Q43E	ENSP00000340329:Q124E	Q	+	1	0	CAPRIN1	34054362	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.228000	0.78079	2.704000	0.92352	0.561000	0.74099	CAG	CAPRIN1	-	NULL		0.323	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	C	NM_005898		34097786	1	no_errors	ENST00000341394	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34097786	C	G	34097786	3	3	107	1	0	0	0	0	1	0	0	0	2640	827	29	1	384	1	CAPRIN1	11	34097786	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	21749020	34097786	100908730	89	15930										
AMBRA1	55626	genome.wustl.edu	37	chr11	46569828	46569828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tttcatccaccgggttttatCttctaccagctcctgcagaa	6	13	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:46569828C>G	ENST00000458649.2	-	2	521	c.103G>C	c.(103-105)Gat>Cat	p.D35H	AMBRA1_ENST00000534300.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D35H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D35H			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	35					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGGGTTTTATCTTCTACCAGC	0.517																																																	0													196	206	203					11																	46569828		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.103G>C	11.37:g.46569828C>G	ENSP00000415327:p.Asp35His		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D35H	ENST00000458649.2	37	c.103		11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103192	0.76983	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.71934	-0.44;-0.61;-0.26;-0.38;-0.26;-0.37;-0.38	6.08	6.08	0.98989	.	0.044251	0.85682	D	0.000000	T	0.80618	0.4657	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.72338	0.95;0.977;0.977;0.967;0.977;0.967	T	0.80616	-0.1303	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	35;35;35;35;35;35	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	H	35	ENSP00000318313:D35H;ENSP00000433372:D35H;ENSP00000431926:D35H;ENSP00000410899:D35H;ENSP00000298834:D35H;ENSP00000415327:D35H;ENSP00000433945:D35H	ENSP00000298834:D35H	D	-	1	0	AMBRA1	46526404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.130000	0.77235	2.894000	0.99253	0.591000	0.81541	GAT	AMBRA1	-	NULL		0.517	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46569828	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46569828	C	G	46569828	3	3	107	1	0	0	0	0	1	0	0	0	565	913	32	1	3595	1	AMBRA1	11	46569828	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	12472042	46569828	88436688	90	15931										
TUT1	64852	genome.wustl.edu	37	chr11	62342749	62342749	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcgccaccactcagtcctttCagctcctgggtgacctgagc	9	16	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:62342749C>A	ENST00000476907.1	-	9	3133	c.2442G>T	c.(2440-2442)ctG>ctT	p.L814L	TUT1_ENST00000308436.7_Silent_p.L852L|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	814					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCAGTCCTTTCAGCTCCTGGG	0.632																																																	0													95	86	89					11																	62342749		2202	4299	6501	SO:0001819	synonymous_variant	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2442G>T	11.37:g.62342749C>A			A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L852	ENST00000476907.1	37	c.2556		11																																																																																			TUT1	-	NULL		0.632	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62342749	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	silent	SNP	0.925	A	A	62342749	C	A	62342749	2	1	107	1	0	0	0	0	0	0	0	1	16811	813	29	3		3	TUT1	11	62342749	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	15772921	62342749	72663767	91	15932			1	64		3	3	445	C		3.620628e-06
TUT1	64852	genome.wustl.edu	37	chr11	62342961	62342961	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agaccattcttgggctgcctCatgtcccttgggcccccgct	10	16	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:62342961C>G	ENST00000476907.1	-	9	2921	c.2230G>C	c.(2230-2232)Gag>Cag	p.E744Q	TUT1_ENST00000308436.7_Missense_Mutation_p.E782Q|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	744					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGCTGCCTCATGTCCCTTG	0.682																																																	0													50	56	54					11																	62342961		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2230G>C	11.37:g.62342961C>G	ENSP00000419607:p.Glu744Gln		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E782Q	ENST00000476907.1	37	c.2344		11	.	.	.	.	.	.	.	.	.	.	C	9.090	1.001488	0.19121	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.37752	1.18;1.2	4.49	2.6	0.31112	.	2.096070	0.02102	N	0.054041	T	0.32071	0.0817	L	0.32530	0.975	0.09310	N	1	B;B	0.15141	0.012;0.006	B;B	0.13407	0.004;0.009	T	0.24190	-1.0167	10	0.52906	T	0.07	-0.1923	7.6495	0.28340	0.0:0.7406:0.1664:0.093	.	744;782	Q9H6E5;F5H0R1	STPAP_HUMAN;.	Q	782;744	ENSP00000308000:E782Q;ENSP00000419607:E744Q	ENSP00000308000:E782Q	E	-	1	0	TUT1	62099537	0.000000	0.05858	0.036000	0.18154	0.601000	0.36947	0.606000	0.24194	0.512000	0.28257	0.655000	0.94253	GAG	TUT1	-	NULL		0.682	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62342961	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	0.017	G	G	62342961	C	G	62342961	3	3	107	1	0	0	0	0	1	0	0	0	16811	835	29	1	398	1	TUT1	11	62342961	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	212	62342961	72663555	92	15933			1	64		3	3	445	C		3.620628e-06
TUT1	64852	genome.wustl.edu	37	chr11	62343193	62343193	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ccctcctcacagcagtttttCtgtccatctactttgagtct	5	14	4	1	rs143375337	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:62343193C>G	ENST00000476907.1	-	9	2689	c.1998G>C	c.(1996-1998)caG>caC	p.Q666H	TUT1_ENST00000308436.7_Missense_Mutation_p.Q704H|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	666					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCAGTTTTTCTGTCCATCTA	0.532													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		22167	0		0	False		,,,				2504	0																0								C	HIS/GLN	8,4396	14.3+/-33.2	0,8,2194	423	423	423		2112	1.8	0	11	dbSNP_134	423	0,8598		0,0,4299	yes	missense	TUT1	NM_022830.2	24	0,8,6493	GG,GC,CC		0.0,0.1817,0.0615	benign	704/913	62343193	8,12994	2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1998G>C	11.37:g.62343193C>G	ENSP00000419607:p.Gln666His		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q704H	ENST00000476907.1	37	c.2112		11	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298959	0.10622	0.001817	0.0	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.38887	1.11;1.13	5.21	1.78	0.24846	.	0.425088	0.25558	N	0.029850	T	0.22589	0.0545	N	0.24115	0.695	0.09310	N	1	B;B	0.16166	0.016;0.003	B;B	0.14578	0.011;0.004	T	0.20174	-1.0283	10	0.87932	D	0	-1.9249	1.0108	0.01497	0.176:0.4242:0.1709:0.2289	.	666;704	Q9H6E5;F5H0R1	STPAP_HUMAN;.	H	704;666	ENSP00000308000:Q704H;ENSP00000419607:Q666H	ENSP00000308000:Q704H	Q	-	3	2	TUT1	62099769	0.000000	0.05858	0.002000	0.10522	0.378000	0.30076	0.806000	0.27126	0.180000	0.19960	0.655000	0.94253	CAG	TUT1	-	NULL		0.532	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62343193	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	0.006	G	G	62343193	C	G	62343193	3	3	107	1	0	0	0	0	1	0	0	0	16811	912	32	1	630	1	TUT1	11	62343193	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	232	62343193	72663323	93	15934			1	64		3	3	445	C		3.620628e-06
KCNK4	50801	genome.wustl.edu	37	chr11	64064417	64064417	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaccagcaacagcagccactCagcctgggacctgggcagcg	13	15	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:64064417C>T	ENST00000539216.1	+	2	617	c.257C>T	c.(256-258)tCa>tTa	p.S86L	KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Missense_Mutation_p.S86L|KCNK4_ENST00000538767.1_Nonsense_Mutation_p.Q20*|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000394525.2_Missense_Mutation_p.S86L|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	86					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AGCAGCCACTCAGCCTGGGAC	0.627																																																	0													53	63	60					11																	64064417		2201	4297	6498	SO:0001583	missense	50801			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.257C>T	11.37:g.64064417C>T	ENSP00000444948:p.Ser86Leu		B5TJL1|Q96T94	Nonsense_Mutation	SNP	NULL	p.Q20*	ENST00000539216.1	37	c.58	CCDS8067.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	37|37	6.390133|6.390133	0.97529|0.97529	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Ion transport 2 (1);	.|0.000000	.|0.43579	.|D	.|0.000543	.|T	.|0.42200	.|0.1192	L|L	0.32530|0.32530	0.975|0.975	0.30277|0.30277	N|N	0.791733|0.791733	.|P	.|0.51653	.|0.947	.|P	.|0.62382	.|0.901	.|T	.|0.37934	.|-0.9684	.|10	0.87932|0.59425	D|D	0|0.04	.|.	14.475|14.475	0.67539|0.67539	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86	.|Q9NYG8	.|KCNK4_HUMAN	X|L	20|86;111;86;148;86	.|ENSP00000402797:S86L;ENSP00000378033:S86L;ENSP00000444948:S86L	ENSP00000446454:Q20X|ENSP00000378033:S86L	Q|S	+|+	1|2	0|0	KCNK4|KCNK4	63820993|63820993	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.804000|2.804000	0.47931|0.47931	2.494000|2.494000	0.84150|0.84150	0.550000|0.550000	0.68814|0.68814	CAG|TCA	KCNK4	-	NULL		0.627	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	HGNC	protein_coding	OTTHUMT00000396430.1	C	NM_033311		64064417	1	no_errors	ENST00000538767	ensembl	human	putative	70_37	nonsense	SNP	1.000	T	T	64064417	C	T	64064417	3	4	107	1	0	0	0	0	1	0	0	0	8088	838	29	1	263	1	KCNK4	11	64064417	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	1721224	64064417	70942099	94	15935										
SF1	7536	genome.wustl.edu	37	chr11	64536711	64536711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atacctgttatcgtcttcccGaagggtcccatttaagcgag	9	11	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:64536711G>A	ENST00000377390.3	-	7	1100	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	SF1_ENST00000334944.5_Missense_Mutation_p.R255W|SF1_ENST00000422298.2_Missense_Mutation_p.R140W|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R380W|SF1_ENST00000377394.3_Missense_Mutation_p.R255W|SF1_ENST00000433274.2_Missense_Mutation_p.R229W|SF1_ENST00000227503.9_Missense_Mutation_p.R255W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	255					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R255W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCGTCTTCCCGAAGGGTCCCA	0.463																																																	1	Substitution - Missense(1)	skin(1)											93	90	91					11																	64536711		2201	4297	6498	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.763C>T	11.37:g.64536711G>A	ENSP00000366607:p.Arg255Trp		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R255W	ENST00000377390.3	37	c.763	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385642	0.82792	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.61158	0.13;0.17;0.2;0.32;0.17;0.21;0.19	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.997;0.996;0.995;0.998;0.998	T	0.82981	-0.0187	10	0.87932	D	0	.	14.232	0.65898	0.0:0.0:0.8496:0.1504	.	140;255;255;255;255;380	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	W	380;255;255;255;255;140;229	ENSP00000366604:R380W;ENSP00000366607:R255W;ENSP00000227503:R255W;ENSP00000366611:R255W;ENSP00000334414:R255W;ENSP00000413084:R140W;ENSP00000396793:R229W	ENSP00000227503:R255W	R	-	1	2	SF1	64293287	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.996000	0.57009	1.481000	0.48307	0.557000	0.71058	CGG	SF1	-	NULL		0.463	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	G	NM_004630		64536711	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	missense	SNP	0.989	A	A	64536711	G	A	64536711	3	1	107	1	0	0	0	0	1	0	0	0	14175	1057	37	1	1322	1	SF1	11	64536711	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	472294	64536711	70469805	95	15936										
PACS1	55690	genome.wustl.edu	37	chr11	65983654	65983654	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cagcaacgtgaaggatgtctCtgtgcctgtggcagaaataa	12	8	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:65983654C>G	ENST00000320580.4	+	5	758	c.725C>G	c.(724-726)tCt>tGt	p.S242C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	242					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGGATGTCTCTGTGCCTGTG	0.512																																																	0													122	100	108					11																	65983654		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.725C>G	11.37:g.65983654C>G	ENSP00000316454:p.Ser242Cys		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S242C	ENST00000320580.4	37	c.725	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558237	0.86231	.	.	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.25749	1.78	5.41	5.41	0.78517	.	0.348650	0.33834	N	0.004510	T	0.47210	0.1433	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69479	0.707;0.964	T	0.30031	-0.9992	10	0.56958	D	0.05	-19.1147	18.1384	0.89630	0.0:1.0:0.0:0.0	.	242;242	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	242;144	ENSP00000316454:S242C	ENSP00000316454:S242C	S	+	2	0	PACS1	65740230	0.827000	0.29292	0.927000	0.36925	0.904000	0.53231	5.706000	0.68362	2.826000	0.97356	0.561000	0.74099	TCT	PACS1	-	NULL		0.512	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	C	NM_018026		65983654	1	no_errors	ENST00000320580	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65983654	C	G	65983654	3	3	107	1	0	0	0	0	1	0	0	0	11396	913	32	1	743	1	PACS1	11	65983654	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	1446943	65983654	69022862	96	15937										
TMEM123	114908	genome.wustl.edu	37	chr11	102323292	102323292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcatgggcggcccccagcagCgctagcacctgcagcgtccc	12	18	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:102323292C>T	ENST00000398136.2	-	1	483	c.63G>A	c.(61-63)gcG>gcA	p.A21A	TMEM123_ENST00000525577.1_Intron|TMEM123_ENST00000361236.3_Silent_p.A21A|RP11-315O6.1_ENST00000528717.1_RNA|TMEM123_ENST00000532161.1_5'Flank	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	21					oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CCCCCAGCAGCGCTAGCACCT	0.721																																																	0													7	11	10					11																	102323292		1902	4060	5962	SO:0001819	synonymous_variant	114908			AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"pro oncosis receptor inducing membrane injury gene"	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.63G>A	11.37:g.102323292C>T			Q8IWS2|Q96QV2	Silent	SNP	NULL	p.A21	ENST00000398136.2	37	c.63	CCDS41702.1	11																																																																																			TMEM123	-	NULL		0.721	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM123	HGNC	protein_coding	OTTHUMT00000394178.1	C	NM_052932		102323292	-1	no_errors	ENST00000398136	ensembl	human	known	70_37	silent	SNP	0.153	T	T	102323292	C	T	102323292	2	4	107	1	0	0	0	0	0	0	0	1	16066	755	27	2		2	TMEM123	11	102323292	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	36339638	102323292	32683224	97	15938										
SIDT2	51092	genome.wustl.edu	37	chr11	117050146	117050146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	catctacaccttcaaccataCtgtgacccgcaacagggtga	7	14	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:117050146C>T	ENST00000324225.4	+	1	698	c.167C>T	c.(166-168)aCt>aTt	p.T56I	SIDT2_ENST00000431081.2_Missense_Mutation_p.T56I	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	56					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCAACCATACTGTGACCCGC	0.622																																																	0													66	62	63					11																	117050146		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.167C>T	11.37:g.117050146C>T	ENSP00000314023:p.Thr56Ile		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.T56I	ENST00000324225.4	37	c.167	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353978	0.82243	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081	T;T;T;T	0.50277	2.19;0.75;2.16;2.19	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	N	0.22421	0.69	0.58432	D	0.999993	D;D;P;D	0.61080	0.982;0.989;0.837;0.969	P;P;B;P	0.58266	0.828;0.836;0.408;0.677	T	0.24048	-1.0171	10	0.21540	T	0.41	-13.4408	12.8303	0.57742	0.0:0.8343:0.1656:0.0	.	56;56;56;56	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	I	56	ENSP00000314023:T56I;ENSP00000431176:T56I;ENSP00000278951:T56I;ENSP00000399635:T56I	ENSP00000278951:T56I	T	+	2	0	SIDT2	116555356	1.000000	0.71417	0.647000	0.29507	0.984000	0.73092	3.928000	0.56506	2.374000	0.81015	0.561000	0.74099	ACT	SIDT2	-	NULL		0.622	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	C	NM_015996		117050146	1	no_errors	ENST00000278951	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117050146	C	T	117050146	3	4	107	1	0	0	0	0	1	0	0	0	14333	565	20	4	169	4	SIDT2	11	117050146	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	14726854	117050146	17956370	98	15939										
HSPA8	3312	genome.wustl.edu	37	chr11	122928971	122928971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aacacaaacctgattcttatCaagccagttgataatttcat	4	9	3	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:122928971C>T	ENST00000532636.1	-	8	1863	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.D563N|HSPA8_ENST00000533540.1_Missense_Mutation_p.D436N|HSPA8_ENST00000534319.1_Missense_Mutation_p.D346N|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.D582N|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.D582N|HSPA8_ENST00000526862.1_5'Flank			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	582					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGATTCTTATCAAGCCAGTTG	0.393																																					Colon(21;486 594 5900 6733 14272)												0													74	79	77					11																	122928971		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1744G>A	11.37:g.122928971C>T	ENSP00000437125:p.Asp582Asn		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D582N	ENST00000532636.1	37	c.1744	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982202	0.74474	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.71206	2.165	0.80722	D	1	B;B	0.25007	0.116;0.116	B;B	0.37346	0.247;0.247	T	0.20773	-1.0265	10	0.72032	D	0.01	-18.3636	18.193	0.89813	0.0:1.0:0.0:0.0	.	582;582	Q53GZ6;P11142	.;HSP7C_HUMAN	N	582;436;582;582;346;563;173;134	ENSP00000437125:D582N;ENSP00000437189:D436N;ENSP00000432083:D582N;ENSP00000227378:D582N;ENSP00000433316:D346N;ENSP00000433584:D563N;ENSP00000435908:D173N;ENSP00000435019:D134N	ENSP00000227378:D582N	D	-	1	0	HSPA8	122434181	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.786000	0.85741	2.373000	0.80994	0.561000	0.74099	GAT	HSPA8	-	pfam_Hsp_70_fam		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122928971	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122928971	C	T	122928971	3	4	107	1	0	0	0	0	1	0	0	0	7436	826	29	1	204	1	HSPA8	11	122928971	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	5878825	122928971	12077545	99	15940										
ERC1	23085	genome.wustl.edu	37	chr12	1192462	1192462	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agctgacagaggagaactttCagaggcttcatgctgagcat	12	8	2	5			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:1192462C>G	ENST00000397203.2	+	3	1208	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	ERC1_ENST00000546231.2_Missense_Mutation_p.Q268E|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268E|ERC1_ENST00000543086.3_Missense_Mutation_p.Q268E|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268E|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAGAACTTTCAGAGGCTTCA	0.502																																																	0													75	69	71					12																	1192462		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.802C>G	12.37:g.1192462C>G	ENSP00000380386:p.Gln268Glu		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.Q268E	ENST00000397203.2	37	c.802	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	5.975	0.363890	0.11296	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.62	5.62	0.85841	.	0.061231	0.64402	D	0.000002	T	0.30417	0.0764	N	0.19112	0.55	0.38851	D	0.95627	B;B;B;B	0.24368	0.035;0.022;0.102;0.095	B;B;B;B	0.29440	0.026;0.014;0.049;0.102	T	0.13953	-1.0490	10	0.02654	T	1	-23.63	20.0247	0.97519	0.0:1.0:0.0:0.0	.	44;268;268;268	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	E	268;268;268;268;268;268;268;268;268;268;44	ENSP00000340054:Q268E;ENSP00000380386:Q268E;ENSP00000438546:Q268E;ENSP00000445336:Q268E;ENSP00000442739:Q268E;ENSP00000347621:Q268E;ENSP00000354158:Q268E;ENSP00000410064:Q268E	ENSP00000340054:Q268E	Q	+	1	0	ERC1	1062723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.468000	0.60162	2.804000	0.96469	0.655000	0.94253	CAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot		0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	C	NM_015064		1192462	1	no_errors	ENST00000360905	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1192462	C	G	1192462	3	3	107	1	0	0	0	0	1	0	0	0	5222	827	29	1	808	1	ERC1	12	1192462	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09		1192462	132659433	100	15941										
CHD4	1108	genome.wustl.edu	37	chr12	6707155	6707155	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcaaatttagggtccttgttCtttcgctttcggcttttctc	8	10	2	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:6707155C>G	ENST00000357008.2	-	12	1960	c.1797G>C	c.(1795-1797)aaG>aaC	p.K599N	CHD4_ENST00000544040.1_Missense_Mutation_p.K592N|CHD4_ENST00000544484.1_Missense_Mutation_p.K596N|CHD4_ENST00000309577.6_Missense_Mutation_p.K599N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	599					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTCCTTGTTCTTTCGCTTTC	0.478																																					Colon(32;586 792 4568 16848 45314)												0													214	206	209					12																	6707155		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1797G>C	12.37:g.6707155C>G	ENSP00000349508:p.Lys599Asn		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K599N	ENST00000357008.2	37	c.1797	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	8.681	0.905216	0.17760	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90844	-2.72;-2.74;-2.72;-2.74	3.83	1.94	0.25998	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	D	0.94013	0.8082	M	0.82323	2.585	0.49051	D	0.999743	D;D;D	0.89917	1.0;0.999;0.983	D;D;P	0.83275	0.996;0.968;0.694	D	0.91439	0.5172	10	0.72032	D	0.01	-4.9585	6.5429	0.22390	0.0:0.6011:0.1402:0.2587	.	599;599;592	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	596;592;599;599;573	ENSP00000440392:K596N;ENSP00000440542:K592N;ENSP00000312419:K599N;ENSP00000349508:K599N	ENSP00000312419:K599N	K	-	3	2	CHD4	6577416	0.999000	0.42202	0.502000	0.27614	0.001000	0.01503	0.716000	0.25836	-0.004000	0.14419	-2.689000	0.00140	AAG	CHD4	-	superfamily_Chromodomain-like		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6707155	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6707155	C	G	6707155	3	3	107	1	0	0	0	0	1	0	0	0	3332	912	32	1	4057	1	CHD4	12	6707155	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	5514693	6707155	127144740	101	15942										
PZP	5858	genome.wustl.edu	37	chr12	9346779	9346779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aataattggcgtcattcacaGagatgaagaagagtttattg	10	4	2	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:9346779G>A	ENST00000261336.2	-	11	1176	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	PZP_ENST00000381997.2_Missense_Mutation_p.S252F	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	383					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCATTCACAGAGATGAAGAA	0.403																																					Melanoma(125;1402 1695 4685 34487 38571)												0													179	168	172					12																	9346779		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1148C>T	12.37:g.9346779G>A	ENSP00000261336:p.Ser383Phe		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S383F	ENST00000261336.2	37	c.1148	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087026	0.01873	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35789	1.48;1.29	3.53	0.252	0.15545	.	0.409870	0.20333	U	0.094385	T	0.23572	0.0570	L	0.41710	1.295	0.09310	N	1	B;B	0.33413	0.411;0.086	B;B	0.37144	0.242;0.035	T	0.25882	-1.0119	10	0.09590	T	0.72	.	6.1874	0.20506	0.0:0.1817:0.4459:0.3725	.	252;383	P20742-2;P20742	.;PZP_HUMAN	F	383;252	ENSP00000261336:S383F;ENSP00000371427:S252F	ENSP00000261336:S383F	S	-	2	0	PZP	9238046	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.879000	0.04188	-0.064000	0.13043	0.557000	0.71058	TCT	PZP	-	NULL		0.403	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	G	NM_002864		9346779	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9346779	G	A	9346779	3	1	107	1	0	0	0	0	1	0	0	0	12899	942	33	1	3404	1	PZP	12	9346779	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	2639624	9346779	124505116	102	15943										
ADCY6	112	genome.wustl.edu	37	chr12	49162768	49162768	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tccatacgactagagacattCactgtgttcccccagatgtc	7	13	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:49162768C>T	ENST00000307885.4	-	20	4027	c.3333G>A	c.(3331-3333)gtG>gtA	p.V1111V	ADCY6_ENST00000357869.3_Silent_p.V1058V|RP11-579D7.2_ENST00000548742.1_RNA|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.V1058V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1111					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGAGACATTCACTGTGTTCC	0.612																																																	0													132	128	130					12																	49162768		2203	4300	6503	SO:0001819	synonymous_variant	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3333G>A	12.37:g.49162768C>T			Q9NR75|Q9UDB0	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1111	ENST00000307885.4	37	c.3333	CCDS8767.1	12																																																																																			ADCY6	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.612	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	C	NM_020983		49162768	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	silent	SNP	0.994	T	T	49162768	C	T	49162768	2	4	107	1	0	0	0	0	0	0	0	1	298	813	29	1		1	ADCY6	12	49162768	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	39815989	49162768	84689127	103	15944										
KRT3	3850	genome.wustl.edu	37	chr12	53185154	53185154	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agcttggcattggcatccttGagggccatctctccatgctg	11	12	1	1	rs376658995		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:53185154G>A	ENST00000417996.2	-	7	1445	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	KRT3_ENST00000309505.3_Silent_p.L457L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	457	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TGGCATCCTTGAGGGCCATCT	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		21874	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	91	88	89		1371	3.8	1	12		89	0,8600		0,0,4300	no	coding-synonymous	KRT3	NM_057088.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		457/629	53185154	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1371C>T	12.37:g.53185154G>A			A6NIS2|Q701L8	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L457	ENST00000417996.2	37	c.1371	CCDS44895.1	12																																																																																			KRT3	-	pfam_F,prints_Keratin_II		0.602	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	G	NM_057088		53185154	-1	no_errors	ENST00000309505	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53185154	G	A	53185154	2	1	107	1	0	0	0	0	0	0	0	1	8486	1277	45	1		1	KRT3	12	53185154	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	4022386	53185154	80666741	104	15945										
STAT2	6773	genome.wustl.edu	37	chr12	56748604	56748604	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttgagagtttcctgcagaatCttctgctctttggtctgatg	10	8	4	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:56748604C>T	ENST00000314128.4	-	7	614	c.591G>A	c.(589-591)aaG>aaA	p.K197K	STAT2_ENST00000557235.1_Silent_p.K193K|STAT2_ENST00000418572.2_Silent_p.K193K|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	197					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGCAGAATCTTCTGCTCTT	0.522																																																	0													205	202	203					12																	56748604		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.591G>A	12.37:g.56748604C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.K197	ENST00000314128.4	37	c.591	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.522	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56748604	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.008	T	T	56748604	C	T	56748604	2	4	107	1	0	0	0	0	0	0	0	1	15295	912	32	1		1	STAT2	12	56748604	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	3563450	56748604	77103291	105	15946										
STAT2	6773	genome.wustl.edu	37	chr12	56749109	56749109	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aagacatcctgctggtctttCagttggctgatggattttac	10	8	2	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:56749109C>T	ENST00000314128.4	-	6	521	c.498G>A	c.(496-498)ctG>ctA	p.L166L	STAT2_ENST00000557235.1_Silent_p.L162L|STAT2_ENST00000418572.2_Silent_p.L162L|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	166					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCTGGTCTTTCAGTTGGCTGA	0.527																																																	0													138	129	132					12																	56749109		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.498G>A	12.37:g.56749109C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L166	ENST00000314128.4	37	c.498	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56749109	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.996	T	T	56749109	C	T	56749109	2	4	107	1	0	0	0	0	0	0	0	1	15295	813	29	1		1	STAT2	12	56749109	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	505	56749109	77102786	106	15947										
LRRIQ1	84125	genome.wustl.edu	37	chr12	85432072	85432072	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caaaatcagaaacccagagtGatgatagtgatacagtgagt	10	6	1	6			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:85432072G>C	ENST00000393217.2	+	2	179	c.118G>C	c.(118-120)Gat>Cat	p.D40H	TSPAN19_ENST00000532498.2_5'Flank|TSPAN19_ENST00000547403.2_5'Flank	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	40										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACCCAGAGTGATGATAGTGA	0.363																																																	0													122	120	120					12																	85432072		2203	4300	6503	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.118G>C	12.37:g.85432072G>C	ENSP00000376910:p.Asp40His		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.D40H	ENST00000393217.2	37	c.118	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433920	0.25813	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.57436	0.99;0.4	4.64	1.96	0.26148	.	0.340339	0.21289	N	0.077013	T	0.58623	0.2135	L	0.53249	1.67	0.20764	N	0.999856	D;D	0.89917	1.0;0.999	D;P	0.68765	0.96;0.87	T	0.46386	-0.9195	10	0.72032	D	0.01	.	3.044	0.06147	0.3614:0.221:0.4175:0.0	.	40;40	Q96JM4;C9JI57	LRIQ1_HUMAN;.	H	40	ENSP00000376906:D40H;ENSP00000376910:D40H	ENSP00000256007:D40H	D	+	1	0	LRRIQ1	83956203	0.944000	0.32072	0.740000	0.30986	0.196000	0.23810	1.579000	0.36536	0.816000	0.34421	0.650000	0.86243	GAT	LRRIQ1	-	NULL		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	G	NM_032165		85432072	1	no_errors	ENST00000393217	ensembl	human	known	70_37	missense	SNP	0.354	C	C	85432072	G	C	85432072	3	2	107	1	0	0	0	0	1	0	0	0	9052	1290	45	1	120	1	LRRIQ1	12	85432072	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	28682963	85432072	48419823	107	15948										
ALX1	8092	genome.wustl.edu	37	chr12	85695176	85695176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttgaaacaaagccagagtttGaaaggaggtcttccagtatc	10	7	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:85695176G>C	ENST00000316824.3	+	4	1059	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	302					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAGAGTTTGAAAGGAGGTC	0.443																																																	0													102	98	99					12																	85695176		2203	4300	6503	SO:0001583	missense	8092			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.904G>C	12.37:g.85695176G>C	ENSP00000315417:p.Glu302Gln		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.E302Q	ENST00000316824.3	37	c.904	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124591	0.77436	.	.	ENSG00000180318	ENST00000316824	D	0.94828	-3.53	6.17	6.17	0.99709	Paired-like homeodomain protein, OAR (1);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	D	0.65684	0.937	D	0.95508	0.8583	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302	Q15699	ALX1_HUMAN	Q	302	ENSP00000315417:E302Q	ENSP00000315417:E302Q	E	+	1	0	ALX1	84219307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.941000	0.99782	0.655000	0.94253	GAA	ALX1	-	pfam_OAR_dom		0.443	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1	G	NM_006982		85695176	1	no_errors	ENST00000316824	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85695176	G	C	85695176	3	2	107	1	0	0	0	0	1	0	0	0	556	1291	45	1	918	1	ALX1	12	85695176	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	263104	85695176	48156719	108	15949										
C12orf52	84934	genome.wustl.edu	37	chr12	113624747	113624747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aggctaacagaaccagaggcGtgggcaaggaggcatcgaag	16	8	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:113624747G>A	ENST00000548278.1	+	3	888	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DDX54_ENST00000314045.7_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.V66M|DDX54_ENST00000306014.5_5'Flank|C12orf52_ENST00000552495.1_Missense_Mutation_p.V90M	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		66					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AACCAGAGGCGTGGGCAAGGA	0.617																																																	0													56	56	56					12																	113624747		2203	4300	6503	SO:0001583	missense	84934																														ENST00000548278.1:c.196G>A	12.37:g.113624747G>A	ENSP00000449841:p.Val66Met		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	NULL	p.V66M	ENST00000548278.1	37	c.196	CCDS9166.1	12	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987053	0.35036	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.34472	1.38;1.38;1.36	4.86	-0.45	0.12223	.	0.924286	0.09016	N	0.860769	T	0.29158	0.0725	M	0.66939	2.045	0.09310	N	1	P;P;P	0.37398	0.593;0.593;0.593	B;B;B	0.27715	0.082;0.082;0.082	T	0.18241	-1.0343	10	0.51188	T	0.08	-2.2021	5.879	0.18844	0.2424:0.3974:0.3602:0.0	.	66;90;66	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	M	66;66;90;66;66;66	ENSP00000448289:V66M;ENSP00000449841:V66M;ENSP00000448680:V90M	ENSP00000266813:V66M	V	+	1	0	C12orf52	112109130	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.541000	0.06099	-0.018000	0.14079	-0.119000	0.15052	GTG	C12orf52	-	NULL		0.617	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf52	HGNC	protein_coding	OTTHUMT00000405239.1	G			113624747	1	no_errors	ENST00000436053	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113624747	G	A	113624747	3	1	107	1	0	0	0	0	1	0	0	0	1701	1145	40	2	198	2	C12orf52	12	113624747	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	27929571	113624747	20227148	109	15950										
FAM101A	144347	genome.wustl.edu	37	chr12	124798824	124798824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	acccaccgtcacggcctacaGcgagaccatcgtggcagcac	10	17	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:124798824G>T	ENST00000389727.3	+	3	404	c.404G>T	c.(403-405)aGc>aTc	p.S135I	FAM101A_ENST00000324038.3_Missense_Mutation_p.S54I|FAM101A_ENST00000546355.1_Missense_Mutation_p.S54I|FAM101A_ENST00000338359.4_Missense_Mutation_p.S54I			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	135										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		ACGGCCTACAGCGAGACCATC	0.647																																																	0													100	87	92					12																	124798824		2203	4300	6503	SO:0001583	missense	144347				CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.404G>T	12.37:g.124798824G>T	ENSP00000374377:p.Ser135Ile		A5D8T5	Missense_Mutation	SNP	NULL	p.S135I	ENST00000389727.3	37	c.404		12	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648887	0.67358	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.84040	0.0364	9	0.87932	D	0	-0.2441	17.6136	0.88061	0.0:0.0:1.0:0.0	.	135	Q6ZTI6	F101A_HUMAN	I	54;54;135;54;54	.	ENSP00000315626:S54I	S	+	2	0	FAM101A	123364777	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	9.309000	0.96252	2.148000	0.66965	0.555000	0.69702	AGC	FAM101A	-	NULL		0.647	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM101A	HGNC	protein_coding		G	NM_181709		124798824	1	no_errors	ENST00000389727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124798824	G	T	124798824	3	4	107	1	0	0	0	0	1	0	0	0	5395	971	34	4	167	4	FAM101A	12	124798824	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	11174077	124798824	9053071	110	15951										
TMEM132D	121256	genome.wustl.edu	37	chr12	130184363	130184363	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaaacgacttacctcaacgtGaagcgatcttcagtggaatt	9	9	3	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:130184363G>A	ENST00000422113.2	-	2	1286	c.960C>T	c.(958-960)ttC>ttT	p.F320F	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	320					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCTCAACGTGAAGCGATCTT	0.488																																																	0													107	96	100					12																	130184363		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.960C>T	12.37:g.130184363G>A			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.F320	ENST00000422113.2	37	c.960	CCDS9266.1	12																																																																																			TMEM132D	-	NULL		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		130184363	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130184363	G	A	130184363	2	1	107	1	0	0	0	0	0	0	0	1	16077	1281	45	1		1	TMEM132D	12	130184363	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5385539	130184363	3667532	111	15952										
EP400	57634	genome.wustl.edu	37	chr12	132498441	132498441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caaaaagccttatacgaggaCgttatcctgcaacctgggtg	10	10	0	0	rs368953719		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:132498441C>T	ENST00000333577.4	+	20	4123	c.4014C>T	c.(4012-4014)gaC>gaT	p.D1338D	EP400_ENST00000330386.6_Silent_p.D1302D|EP400_ENST00000332482.4_Silent_p.D1265D|EP400_ENST00000389562.2_Silent_p.D1301D|EP400_ENST00000389561.2_Silent_p.D1302D			Q96L91	EP400_HUMAN	E1A binding protein p400	1338	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TATACGAGGACGTTATCCTGC	0.493																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	102	96	98		3906	-9.1	0.3	12		98	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1302/3124	132498441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4014C>T	12.37:g.132498441C>T			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1338	ENST00000333577.4	37	c.4014		12																																																																																			EP400	-	pfam_SNF2_N		0.493	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132498441	1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.925	T	T	132498441	C	T	132498441	2	4	107	1	0	0	0	0	0	0	0	1	5161	535	19	2		2	EP400	12	132498441	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	2314078	132498441	1353454	112	15953										
COL4A2	1284	genome.wustl.edu	37	chr13	111088655	111088655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gacccaacgggattccatcaGacaccctccaccccatcatc	5	19	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr13:111088655G>T	ENST00000360467.5	+	13	1072	c.766G>T	c.(766-768)Gac>Tac	p.D256Y		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	256	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATTCCATCAGACACCCTCCA	0.453																																																	0													91	97	95					13																	111088655		1952	4134	6086	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.766G>T	13.37:g.111088655G>T	ENSP00000353654:p.Asp256Tyr		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D256Y	ENST00000360467.5	37	c.766	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700604	0.30142	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91295	-2.82	4.84	3.99	0.46301	.	0.427103	0.19522	N	0.112254	D	0.91099	0.7198	M	0.78049	2.395	0.09310	N	1	P	0.43094	0.799	P	0.45946	0.498	D	0.84918	0.0852	10	0.59425	D	0.04	.	9.4238	0.38567	0.0994:0.0:0.9006:0.0	.	256	P08572	CO4A2_HUMAN	Y	256	ENSP00000353654:D256Y	ENSP00000257309:D256Y	D	+	1	0	COL4A2	109886656	0.894000	0.30519	0.012000	0.15200	0.000000	0.00434	4.057000	0.57455	1.167000	0.42706	-0.266000	0.10368	GAC	COL4A2	-	NULL		0.453	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111088655	1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	0.049	T	T	111088655	G	T	111088655	3	4	107	1	0	0	0	0	1	0	0	0	3695	942	33	3	812	3	COL4A2	13	111088655	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		111088655	4081223	113	15954										
TOX4	9878	genome.wustl.edu	37	chr14	21961414	21961414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgatcacagatgtagttcctGaggtgagcctttgtttttaa	10	6	1	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:21961414G>A	ENST00000405508.1	+	8	1915	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	TOX4_ENST00000262709.3_Missense_Mutation_p.E547K|TOX4_ENST00000448790.2_Missense_Mutation_p.E524K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	547						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGTAGTTCCTGAGGTGAGCCT	0.443																																																	0													60	59	59					14																	21961414		2201	4300	6501	SO:0001583	missense	9878			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1639G>A	14.37:g.21961414G>A	ENSP00000385102:p.Glu547Lys		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E547K	ENST00000405508.1	37	c.1639	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333342	0.81801	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12672	2.66;2.66;2.68	4.99	4.99	0.66335	.	0.552015	0.19296	N	0.117774	T	0.17280	0.0415	L	0.42245	1.32	0.44477	D	0.997419	B;B	0.24258	0.1;0.1	B;B	0.30316	0.114;0.114	T	0.03463	-1.1034	10	0.54805	T	0.06	.	17.5446	0.87857	0.0:0.0:1.0:0.0	.	524;547	B4DPY8;O94842	.;TOX4_HUMAN	K	547;547;524;475	ENSP00000385102:E547K;ENSP00000262709:E547K;ENSP00000393080:E524K	ENSP00000262709:E547K	E	+	1	0	TOX4	21031254	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.414000	0.73318	2.750000	0.94351	0.455000	0.32223	GAG	TOX4	-	NULL		0.443	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	G	NM_014828		21961414	1	no_errors	ENST00000262709	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21961414	G	A	21961414	3	1	107	1	0	0	0	0	1	0	0	0	16411	1291	45	1	1665	1	TOX4	14	21961414	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		21961414	85388126	114	15955										
C14orf104	55172	genome.wustl.edu	37	chr14	50094756	50094756	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	attaatttgaatcttattatCagtaacttgaagaacttcaa	4	5	3	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:50094756C>G	ENST00000298292.8	-	2	2061	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	DNAAF2_ENST00000406043.3_Intron|RP11-649E7.7_ENST00000556657.1_RNA	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	661					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						ATCTTATTATCAGTAACTTGA	0.343																																																	0													44	43	44					14																	50094756		2200	4298	6498	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1981G>C	14.37:g.50094756C>G	ENSP00000298292:p.Asp661His		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.D661H	ENST00000298292.8	37	c.1981	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457413	0.84317	.	.	ENSG00000165506	ENST00000298292	T	0.14893	2.47	5.47	5.47	0.80525	.	0.177421	0.36972	N	0.002302	T	0.38532	0.1044	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.05468	-1.0883	10	0.87932	D	0	.	18.7334	0.91744	0.0:1.0:0.0:0.0	.	661	Q9NVR5	KTU_HUMAN	H	661	ENSP00000298292:D661H	ENSP00000298292:D661H	D	-	1	0	DNAAF2	49164506	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	4.816000	0.62642	2.725000	0.93324	0.558000	0.71614	GAT	DNAAF2	-	NULL		0.343	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	C			50094756	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50094756	C	G	50094756	3	3	107	1	0	0	0	0	1	0	0	0	1740	826	29	1	540	1	C14orf104	14	50094756	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	28133342	50094756	57254784	115	15956										
C14orf104	55172	genome.wustl.edu	37	chr14	50094828	50094828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaatggagagctcaggacctCttcaagaaactcattaacat	8	9	4	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:50094828C>G	ENST00000298292.8	-	2	1989	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	DNAAF2_ENST00000406043.3_Intron|RP11-649E7.7_ENST00000556657.1_RNA	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	637					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCAGGACCTCTTCAAGAAAC	0.333																																																	0													54	53	54					14																	50094828		2202	4297	6499	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1909G>C	14.37:g.50094828C>G	ENSP00000298292:p.Glu637Gln		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.E637Q	ENST00000298292.8	37	c.1909	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270784	0.59540	.	.	ENSG00000165506	ENST00000298292	T	0.14640	2.49	5.47	3.66	0.41972	.	0.397632	0.21502	N	0.073516	T	0.14184	0.0343	L	0.47716	1.5	0.58432	D	0.999996	D	0.56521	0.976	P	0.46685	0.524	T	0.05971	-1.0853	10	0.30078	T	0.28	.	7.5816	0.27967	0.0:0.7282:0.0:0.2718	.	637	Q9NVR5	KTU_HUMAN	Q	637	ENSP00000298292:E637Q	ENSP00000298292:E637Q	E	-	1	0	DNAAF2	49164578	0.678000	0.27586	0.998000	0.56505	0.990000	0.78478	1.501000	0.35693	0.802000	0.34089	0.558000	0.71614	GAG	DNAAF2	-	NULL		0.333	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	C			50094828	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	0.872	G	G	50094828	C	G	50094828	3	3	107	1	0	0	0	0	1	0	0	0	1740	922	32	1	612	1	C14orf104	14	50094828	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	72	50094828	57254712	116	15957										
RTN1	6252	genome.wustl.edu	37	chr14	60074196	60074196	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctgcttgatgtcccgccaatAcaacaggtcaatagctgcag	9	12	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:60074196A>T	ENST00000267484.5	-	4	2115	c.1780T>A	c.(1780-1782)Tat>Aat	p.Y594N	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.Y26N|RTN1_ENST00000395090.1_Missense_Mutation_p.Y11N	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	594	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCCCGCCAATACAACAGGTCA	0.592																																																	0													26	26	26					14																	60074196		2203	4299	6502	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1780T>A	14.37:g.60074196A>T	ENSP00000267484:p.Tyr594Asn		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.Y594N	ENST00000267484.5	37	c.1780	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769905	0.90020	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.48522	0.81;0.81;0.81	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.92649	3.33	0.80722	D	1	P;D;D	0.89917	0.954;1.0;0.989	D;D;D	0.81914	0.934;0.995;0.929	T	0.82667	-0.0344	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	11;594;26	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	N	174;594;11;26;520	ENSP00000267484:Y594N;ENSP00000378525:Y11N;ENSP00000340716:Y26N	ENSP00000267484:Y594N	Y	-	1	0	RTN1	59143949	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TAT	RTN1	-	pfam_Reticulon,pfscan_Reticulon		0.592	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	A			60074196	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60074196	A	T	60074196	3	4	107	1	0	0	0	0	1	0	0	0	13755	391	14	5	574	5	RTN1	14	60074196	Missense_Mutation	SNP	A	TCGA-EK-A2RC-01A-11D-A18J-09	9979368	60074196	47275344	117	15958										
ZBTB1	22890	genome.wustl.edu	37	chr14	64989628	64989628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcttcaggaacatgctcaacGatgtggcgagccccaagatc	11	12	2	1	rs143630259		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:64989628G>A	ENST00000554015.1	+	4	1837	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	ZBTB1_ENST00000358738.3_Missense_Mutation_p.R469Q|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.R469Q			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	469					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CATGCTCAACGATGTGGCGAG	0.423																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113	111	112		1406,1406	6	0.1	14	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense	ZBTB1	NM_001123329.1,NM_014950.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	469/714,469/645	64989628	1,13005	2203	4300	6503	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1406G>A	14.37:g.64989628G>A	ENSP00000451000:p.Arg469Gln		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R469Q	ENST00000554015.1	37	c.1406	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858425	0.17178	2.27E-4	0.0	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10763	2.84;3.34;2.84	6.03	6.03	0.97812	.	0.335233	0.29139	N	0.013022	T	0.09468	0.0233	L	0.27053	0.805	0.33366	D	0.572894	D;P	0.54047	0.964;0.94	B;B	0.43155	0.41;0.232	T	0.07501	-1.0769	10	0.52906	T	0.07	-25.1146	10.8404	0.46710	0.0714:0.1418:0.7868:0.0	.	469;469	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	Q	469	ENSP00000451000:R469Q;ENSP00000351587:R469Q;ENSP00000378201:R469Q	ENSP00000351587:R469Q	R	+	2	0	ZBTB1	64059381	1.000000	0.71417	0.120000	0.21714	0.021000	0.10359	4.961000	0.63681	2.861000	0.98227	0.655000	0.94253	CGA	ZBTB1	-	NULL		0.423	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	G			64989628	1	no_errors	ENST00000394712	ensembl	human	known	70_37	missense	SNP	0.760	A	A	64989628	G	A	64989628	3	1	107	1	0	0	0	0	1	0	0	0	17552	1058	37	1	1408	1	ZBTB1	14	64989628	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	4915432	64989628	42359912	118	15959										
PNMA1	9240	genome.wustl.edu	37	chr14	74180160	74180160	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agctctaataaggctgctttCgcattttcttccctccagaa	6	12	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:74180160C>T	ENST00000316836.3	-	1	968	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	61					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		aggctgctttcgcattttctt	0.542																																																	0													136	142	140					14																	74180160		2203	4300	6503	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.183G>A	14.37:g.74180160C>T			A8K4L5|O95144|Q8NG07	Silent	SNP	superfamily_Globin-like	p.A61	ENST00000316836.3	37	c.183	CCDS9818.1	14																																																																																			PNMA1	-	NULL		0.542	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	HGNC	protein_coding	OTTHUMT00000402774.1	C	NM_006029		74180160	-1	no_errors	ENST00000316836	ensembl	human	known	70_37	silent	SNP	0.994	T	T	74180160	C	T	74180160	2	4	107	1	0	0	0	0	0	0	0	1	12177	871	31	1		1	PNMA1	14	74180160	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	9190532	74180160	33169380	119	15960										
FOS	2353	genome.wustl.edu	37	chr14	75747316	75747316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cgaagggaaaggaataagatGgctgcagccaaatgccgcaa	13	8	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:75747316G>A	ENST00000303562.4	+	3	656	c.447G>A	c.(445-447)atG>atA	p.M149I	FOS_ENST00000555686.1_Missense_Mutation_p.M35I|FOS_ENST00000555242.1_Missense_Mutation_p.M149I|FOS_ENST00000555347.1_Start_Codon_SNP_p.M1I|FOS_ENST00000535987.1_Intron	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	149	Basic motif; required for the activation of phospholipid synthesis, but not for CDS1-binding.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	GGAATAAGATGGCTGCAGCCA	0.448																																																	0													57	66	63					14																	75747316		2203	4300	6503	SO:0001583	missense	2353			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.447G>A	14.37:g.75747316G>A	ENSP00000306245:p.Met149Ile		A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.M149I	ENST00000303562.4	37	c.447	CCDS9841.1	14	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215000	0.58452	.	.	ENSG00000170345	ENST00000303562;ENST00000555242;ENST00000555686;ENST00000557139;ENST00000555347	T;T;T;T;T	0.75367	0.09;0.09;0.09;0.09;-0.93	5.2	5.2	0.72013	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.083809	0.85682	D	0.000000	T	0.64125	0.2570	N	0.03224	-0.385	0.80722	D	1	P	0.48162	0.906	P	0.49708	0.62	T	0.71807	-0.4481	10	0.45353	T	0.12	-21.8737	18.707	0.91643	0.0:0.0:1.0:0.0	.	149	P01100	FOS_HUMAN	I	149;149;35;65;1	ENSP00000306245:M149I;ENSP00000452386:M149I;ENSP00000452590:M35I;ENSP00000451786:M65I;ENSP00000450886:M1I	ENSP00000306245:M149I	M	+	3	0	FOS	74817069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.579000	0.87056	0.563000	0.77884	ATG	FOS	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.448	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOS	HGNC	protein_coding	OTTHUMT00000415044.1	G	NM_005252		75747316	1	no_errors	ENST00000303562	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75747316	G	A	75747316	3	1	107	1	0	0	0	0	1	0	0	0	6003	1348	47	4	457	4	FOS	14	75747316	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1567156	75747316	31602224	120	15961										
SMEK1	55671	genome.wustl.edu	37	chr14	91929188	91929188	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cagtgctttccagtaattttCaattacatgagcagttaatg	7	7	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:91929188C>G	ENST00000554943.1	-	12	1979	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	SMEK1_ENST00000428424.2_Missense_Mutation_p.E383Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.E609Q|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.E383Q|SMEK1_ENST00000337238.4_Missense_Mutation_p.E609Q			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	622					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CAGTAATTTTCAATTACATGA	0.294																																																	0													127	133	131					14																	91929188		2203	4297	6500	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1864G>C	14.37:g.91929188C>G	ENSP00000450883:p.Glu622Gln		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E622Q	ENST00000554943.1	37	c.1864		14	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891237	0.91889	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;D;T;D;T	0.93953	1.54;1.54;-3.32;1.54;-3.32;1.54	5.34	5.34	0.76211	Armadillo-type fold (1);	0.044809	0.85682	D	0.000000	D	0.96309	0.8796	M	0.70595	2.14	0.80722	D	1	B;P;D	0.69078	0.241;0.566;0.997	B;P;D	0.71184	0.086;0.529;0.972	D	0.96055	0.9034	10	0.51188	T	0.08	-17.0587	19.0581	0.93074	0.0:1.0:0.0:0.0	.	383;622;609	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Q	609;609;383;622;383;609	ENSP00000450864:E609Q;ENSP00000337125:E609Q;ENSP00000392704:E383Q;ENSP00000450883:E622Q;ENSP00000450891:E383Q;ENSP00000452596:E609Q	ENSP00000337125:E609Q	E	-	1	0	SMEK1	90998941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.488000	0.83962	0.655000	0.94253	GAA	SMEK1	-	superfamily_ARM-type_fold		0.294	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91929188	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91929188	C	G	91929188	3	3	107	1	0	0	0	0	1	0	0	0	14823	835	29	1	653	1	SMEK1	14	91929188	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	16181872	91929188	15420352	121	15962										
CCNK	8812	genome.wustl.edu	37	chr14	99976674	99976674	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cagctacatgaccgggatgtCcaccaccagctcctacatgt	8	15	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:99976674C>G	ENST00000389879.5	+	11	1421	c.1298C>G	c.(1297-1299)tCc>tGc	p.S433C	CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	433					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCGGGATGTCCACCACCAGC	0.701																																																	0													20	22	21					14																	99976674		1917	4113	6030	SO:0001583	missense	8812			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1298C>G	14.37:g.99976674C>G	ENSP00000374529:p.Ser433Cys		Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S433C	ENST00000389879.5	37	c.1298	CCDS45160.1	14	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039729	0.35989	.	.	ENSG00000090061	ENST00000437596;ENST00000389879	T	0.31247	1.5	3.96	2.09	0.27110	.	0.279169	0.35585	N	0.003103	T	0.19127	0.0459	L	0.27053	0.805	0.80722	D	1	P	0.51653	0.947	B	0.40741	0.339	T	0.02150	-1.1205	10	0.62326	D	0.03	-13.7246	8.0084	0.30338	0.1587:0.7564:0.0:0.0848	.	433	O75909	CCNK_HUMAN	C	453;433	ENSP00000374529:S433C	ENSP00000374529:S433C	S	+	2	0	CCNK	99046427	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	6.814000	0.75236	0.335000	0.23614	-0.350000	0.07774	TCC	CCNK	-	NULL		0.701	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	C			99976674	1	no_errors	ENST00000389879	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99976674	C	G	99976674	3	3	107	1	0	0	0	0	1	0	0	0	2935	855	30	1	1336	1	CCNK	14	99976674	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	8047486	99976674	7372866	122	15963										
C14orf68	283600	genome.wustl.edu	37	chr14	100795252	100795252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tggccacggtagcccgtgagGaggggctgtgcggcctctac	17	12	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:100795252G>A	ENST00000361529.3	+	5	595	c.517G>A	c.(517-519)Gag>Aag	p.E173K	SLC25A47_ENST00000557052.1_Missense_Mutation_p.E27K	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	173					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						AGCCCGTGAGGAGGGGCTGTG	0.682																																					GBM(11;1289 1351)												0													35	32	33					14																	100795252		2202	4297	6499	SO:0001583	missense	283600				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.517G>A	14.37:g.100795252G>A	ENSP00000354886:p.Glu173Lys		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E173K	ENST00000361529.3	37	c.517	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565022	0.65651	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	D;D	0.82433	-1.61;-1.61	4.89	4.89	0.63831	Mitochondrial carrier domain (2);	0.146210	0.64402	D	0.000010	D	0.92642	0.7662	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.93646	0.6969	10	0.52906	T	0.07	-6.8987	18.0335	0.89292	0.0:0.0:1.0:0.0	.	173	Q6Q0C1	S2547_HUMAN	K	173;27	ENSP00000354886:E173K;ENSP00000451078:E27K	ENSP00000354886:E173K	E	+	1	0	SLC25A47	99865005	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.428000	0.80296	2.262000	0.75019	0.491000	0.48974	GAG	SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.682	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	G			100795252	1	no_errors	ENST00000361529	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100795252	G	A	100795252	3	1	107	1	0	0	0	0	1	0	0	0	1782	1175	41	1	535	1	C14orf68	14	100795252	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	818578	100795252	6554288	123	15964										
KIF26A	26153	genome.wustl.edu	37	chr14	104641549	104641549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaccgggagctcaccgacaaCgaaggtccgcctgacttcgt	12	14	1	1	rs367843200		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:104641549C>T	ENST00000423312.2	+	12	2424	c.2424C>T	c.(2422-2424)aaC>aaT	p.N808N	KIF26A_ENST00000315264.7_Silent_p.N669N	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	808					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCACCGACAACGAAGGTCCGC	0.672																																																	0								C		0,4190		0,0,2095	26	31	29		2424	-1.7	0	14		29	1,8391		0,1,4195	no	coding-synonymous	KIF26A	NM_015656.1		0,1,6290	TT,TC,CC		0.0119,0.0,0.0079		808/1883	104641549	1,12581	2095	4196	6291	SO:0001819	synonymous_variant	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2424C>T	14.37:g.104641549C>T			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N808	ENST00000423312.2	37	c.2424	CCDS45171.1	14																																																																																			KIF26A	-	NULL		0.672	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104641549	1	no_errors	ENST00000423312	ensembl	human	known	70_37	silent	SNP	0.794	T	T	104641549	C	T	104641549	2	4	107	1	0	0	0	0	0	0	0	1	8314	535	19	2		2	KIF26A	14	104641549	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	3846297	104641549	2707991	124	15965										
TRPM1	4308	genome.wustl.edu	37	chr15	31334414	31334414	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcctcctttttcttctttttCtttttcttccctttagctgg	3	12	4	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:31334414C>G	ENST00000256552.6	-	17	1974	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.K587N|TRPM1_ENST00000542188.1_Missense_Mutation_p.K626N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tcttctttttctttttcttcC	0.473																																																	0													42	44	43					15																	31334414		2038	4204	6242	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1827G>C	15.37:g.31334414C>G	ENSP00000256552:p.Lys609Asn			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K626N	ENST00000256552.6	37	c.1878	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796997	0.70567	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74842	-0.88;-0.88;-0.88	4.72	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	L	0.50333	1.59	0.53688	D	0.999975	B;P	0.46656	0.336;0.882	B;P	0.52159	0.257;0.691	T	0.73065	-0.4100	10	0.87932	D	0	-31.0941	8.2333	0.31612	0.1566:0.7583:0.0:0.0852	.	581;587	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	N	587;626;609;587	ENSP00000380897:K587N;ENSP00000437849:K626N;ENSP00000256552:K609N	ENSP00000256552:K609N	K	-	3	2	TRPM1	29121706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.581000	0.46077	0.443000	0.26582	0.655000	0.94253	AAG	TRPM1	-	NULL		0.473	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31334414	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31334414	C	G	31334414	3	3	107	1	0	0	0	0	1	0	0	0	16616	912	32	1	3098	1	TRPM1	15	31334414	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09		31334414	71196978	125	15966										
DUT	1854	genome.wustl.edu	37	chr15	48623778	48623778	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	acgtctctgcttcgctcagcGatgcaaaacgcgcgaggcgc	12	14	2	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:48623778G>C	ENST00000331200.3	+	1	159	c.66G>C	c.(64-66)gcG>gcC	p.A22A	DUT_ENST00000558813.1_Intron|DUT_ENST00000559935.1_Intron|DUT_ENST00000559540.1_5'Flank|DUT_ENST00000455976.2_5'Flank|RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000559416.1_Intron|RP11-154J22.1_ENST00000559134.1_RNA	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	22					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TTCGCTCAGCGATGCAAAACG	0.697								Modulation of nucleotide pools																																									0													8	9	9					15																	48623778		2118	4153	6271	SO:0001819	synonymous_variant	1854			M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"dUTP pyrophosphatase"			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.66G>C	15.37:g.48623778G>C			A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Silent	SNP	pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf	p.A22	ENST00000331200.3	37	c.66	CCDS32231.1	15																																																																																			DUT	-	NULL		0.697	DUT-001	KNOWN	basic|CCDS	protein_coding	DUT	HGNC	protein_coding	OTTHUMT00000417142.2	G			48623778	1	no_errors	ENST00000331200	ensembl	human	known	70_37	silent	SNP	0.003	C	C	48623778	G	C	48623778	2	2	107	1	0	0	0	0	0	0	0	1	4843	1045	37	1		1	DUT	15	48623778	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	17289364	48623778	53907614	126	15967										
RFX7	64864	genome.wustl.edu	37	chr15	56394437	56394437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	caaaagctttttttcttagtCcactgtagcaatatgtaata	5	7	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:56394437C>T	ENST00000559447.2	-	6	513	c.242G>A	c.(241-243)gGa>gAa	p.G81E	RFX7_ENST00000423270.1_Missense_Mutation_p.G178E|RFX7_ENST00000422057.1_Missense_Mutation_p.G81E|RFX7_ENST00000317318.6_Missense_Mutation_p.G178E			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	81					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTCTTAGTCCACTGTAGCA	0.313																																																	0													65	62	63					15																	56394437		1790	4061	5851	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.242G>A	15.37:g.56394437C>T	ENSP00000453281:p.Gly81Glu		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.G178E	ENST00000559447.2	37	c.533		15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314319	0.81358	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.93547	-3.24;-3.24;-3.24	5.89	5.89	0.94794	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.061931	0.64402	D	0.000006	D	0.96552	0.8875	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96549	0.9406	10	0.87932	D	0	-12.5209	19.239	0.93875	0.0:1.0:0.0:0.0	.	81	Q2KHR2	RFX7_HUMAN	E	81;178;178	ENSP00000387504:G81E;ENSP00000313299:G178E;ENSP00000397644:G178E	ENSP00000313299:G178E	G	-	2	0	RFX7	54181729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.788000	0.95919	0.585000	0.79938	GGA	RFX7	-	NULL		0.313	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	C	NM_022841		56394437	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56394437	C	T	56394437	3	4	107	1	0	0	0	0	1	0	0	0	13298	855	30	1	3865	1	RFX7	15	56394437	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	7770659	56394437	46136955	127	15968										
TBC1D2B	23102	genome.wustl.edu	37	chr15	78293968	78293968	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ccccaggactcacctagcatCaaggatagtgcgagtgaagt	11	11	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:78293968C>G	ENST00000300584.3	-	12	2688	c.2689G>C	c.(2689-2691)Gat>Cat	p.D897H	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D897H	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	897							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCTAGCATCAAGGATAGTG	0.473																																																	0													52	47	49					15																	78293968		2195	4289	6484	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2689G>C	15.37:g.78293968C>G	ENSP00000300584:p.Asp897His		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.D897H	ENST00000300584.3	37	c.2689	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103913|3.103913	0.56291|0.56291	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.33865|.	1.39;1.39|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Rab-GAP/TBC domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72153|0.72153	0.3425|0.3425	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.66590|0.66590	-0.5885|-0.5885	10|6	0.59425|0.09843	D|T	0.04|0.71	.|.	18.6175|18.6175	0.91308|0.91308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	897;897|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	H|F	897|778	ENSP00000387165:D897H;ENSP00000300584:D897H|.	ENSP00000300584:D897H|ENSP00000388157:L778F	D|L	-|-	1|3	0|2	TBC1D2B|TBC1D2B	76081023|76081023	1.000000|1.000000	0.71417|0.71417	0.459000|0.459000	0.27081|0.27081	0.255000|0.255000	0.26057|0.26057	7.728000|7.728000	0.84847|0.84847	2.626000|2.626000	0.88956|0.88956	0.561000|0.561000	0.74099|0.74099	GAT|TTG	TBC1D2B	-	superfamily_Rab-GTPase-TBC_dom		0.473	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	C	NM_015079		78293968	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78293968	C	G	78293968	3	3	107	1	0	0	0	0	1	0	0	0	15649	826	29	1	210	1	TBC1D2B	15	78293968	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	21899531	78293968	24237424	128	15969										
ALPK3	57538	genome.wustl.edu	37	chr15	85383981	85383981	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cccctccaaagcccaaaggaGaggccaccactgacagcaag	9	16	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:85383981G>C	ENST00000258888.5	+	5	2244	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	693					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAAAGGAGAGGCCACCAC	0.607																																																	0													52	50	51					15																	85383981		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2077G>C	15.37:g.85383981G>C	ENSP00000258888:p.Glu693Gln		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.E693Q	ENST00000258888.5	37	c.2077	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294533	0.60086	.	.	ENSG00000136383	ENST00000258888	T	0.63255	-0.03	5.23	5.23	0.72850	.	5.551380	0.01386	U	0.013087	T	0.73385	0.3580	L	0.32530	0.975	0.32576	N	0.529155	D	0.69078	0.997	P	0.61397	0.888	T	0.62191	-0.6906	10	0.66056	D	0.02	-28.3617	14.3314	0.66559	0.0:0.0:1.0:0.0	.	693	Q96L96	ALPK3_HUMAN	Q	693	ENSP00000258888:E693Q	ENSP00000258888:E693Q	E	+	1	0	ALPK3	83184985	0.870000	0.30015	0.930000	0.37139	0.205000	0.24178	2.762000	0.47597	2.444000	0.82710	0.557000	0.71058	GAG	ALPK3	-	NULL		0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85383981	1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	0.876	C	C	85383981	G	C	85383981	3	2	107	1	0	0	0	0	1	0	0	0	546	943	33	1	2095	1	ALPK3	15	85383981	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	7090013	85383981	17147411	129	15970										
AKAP13	11214	genome.wustl.edu	37	chr15	86087109	86087109	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggccgcggagctctcagtatCcacaaccaggaaggggcgac	14	13	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:86087109C>G	ENST00000394518.2	+	5	680	c.585C>G	c.(583-585)atC>atG	p.I195M	AKAP13_ENST00000361243.2_Missense_Mutation_p.I195M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	195					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTCTCAGTATCCACAACCAGG	0.577																																					Melanoma(94;603 1453 3280 32295 32951)												0													82	75	77					15																	86087109		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.585C>G	15.37:g.86087109C>G	ENSP00000378026:p.Ile195Met		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I195M	ENST00000394518.2	37	c.585	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311018	0.60414	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.36340	1.26;1.26	5.62	0.838	0.18902	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.38453	0.1041	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69142	0.916;0.962	T	0.23833	-1.0177	9	0.87932	D	0	.	6.8784	0.24158	0.3252:0.5238:0.0:0.151	.	195;195	Q12802;Q12802-2	AKP13_HUMAN;.	M	195;195;194;194	ENSP00000354718:I195M;ENSP00000378026:I195M	ENSP00000354718:I195M	I	+	3	3	AKAP13	83888113	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	0.219000	0.17641	0.260000	0.21731	-0.244000	0.11960	ATC	AKAP13	-	superfamily_Ankyrin_rpt-contain_dom		0.577	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86087109	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	0.987	G	G	86087109	C	G	86087109	3	3	107	1	0	0	0	0	1	0	0	0	449	845	30	1	599	1	AKAP13	15	86087109	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	703128	86087109	16444283	130	15971										
FES	2242	genome.wustl.edu	37	chr15	91433650	91433650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggagcaggagcgagagggggGaaggacacccacgctggaga	20	8	0	2	rs575070040		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:91433650G>A	ENST00000328850.3	+	10	1398	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	FES_ENST00000394302.1_Missense_Mutation_p.G361E|FES_ENST00000394300.3_Missense_Mutation_p.G361E|FES_ENST00000414248.2_Missense_Mutation_p.G361E|FES_ENST00000444422.2_Missense_Mutation_p.G419E|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.G361E	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	419					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGAGAGGGGGGAAGGACACCC	0.652													G|||	1	0.000199681	0	0.0014	5008	,	,		13751	0		0	False		,,,				2504	0																0													49	46	47					15																	91433650		2198	4298	6496	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1256G>A	15.37:g.91433650G>A	ENSP00000331504:p.Gly419Glu		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.G419E	ENST00000328850.3	37	c.1256	CCDS10365.1	15	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832499	0.71258	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.74209	-0.71;-0.66;-0.82;-0.64;-0.71;-0.66	5.04	5.04	0.67666	.	0.197800	0.41605	D	0.000857	T	0.76557	0.4004	L	0.34521	1.04	0.21579	N	0.999631	P;D;D;B;D;P	0.71674	0.937;0.995;0.991;0.051;0.998;0.937	P;P;P;B;D;P	0.69142	0.587;0.896;0.727;0.027;0.962;0.482	T	0.65483	-0.6157	10	0.14656	T	0.56	-17.3702	14.2244	0.65848	0.0:0.1928:0.8072:0.0	.	401;361;361;361;419;419	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	E	419;361;361;419;361;361	ENSP00000331504:G419E;ENSP00000414629:G361E;ENSP00000377839:G361E;ENSP00000400868:G419E;ENSP00000377837:G361E;ENSP00000409915:G361E	ENSP00000331504:G419E	G	+	2	0	FES	89234654	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.411000	0.44600	2.624000	0.88883	0.650000	0.86243	GGA	FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.652	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	G	NM_002005		91433650	1	no_errors	ENST00000328850	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91433650	G	A	91433650	3	1	107	1	0	0	0	0	1	0	0	0	5838	1174	41	1	1290	1	FES	15	91433650	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5346541	91433650	11097742	131	15972										
FBXL16	146330	genome.wustl.edu	37	chr16	745768	745768	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aggttgggcagcagctgcgaGatggccgcgatggcgtcgtc	18	10	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:745768G>A	ENST00000397621.1	-	3	1120	c.789C>T	c.(787-789)atC>atT	p.I263I	FBXL16_ENST00000562563.1_Silent_p.I51I|FBXL16_ENST00000324361.5_Silent_p.I263I|FBXL16_ENST00000562585.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCAGCTGCGAGATGGCCGCGA	0.692																																																	0													37	35	36					16																	745768		2199	4295	6494	SO:0001819	synonymous_variant	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.789C>T	16.37:g.745768G>A			B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.I263	ENST00000397621.1	37	c.789	CCDS10421.1	16																																																																																			FBXL16	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.692	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	G	NM_153350		745768	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	silent	SNP	1.000	A	A	745768	G	A	745768	2	1	107	1	0	0	0	0	0	0	0	1	5730	932	33	1		1	FBXL16	16	745768	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		745768	89608985	132	15973										
PKD1	5310	genome.wustl.edu	37	chr16	2159612	2159612	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcatccgggaagaccatggtGacatgagggccacgcttgct	14	11	0	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:2159612G>A	ENST00000262304.4	-	15	5764	c.5556C>T	c.(5554-5556)gtC>gtT	p.V1852V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.V1852V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1852	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACCATGGTGACATGAGGGC	0.657																																																	0													17	14	15					16																	2159612		2171	4278	6449	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5556C>T	16.37:g.2159612G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V1852	ENST00000262304.4	37	c.5556	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2159612	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.000	A	A	2159612	G	A	2159612	2	1	107	1	0	0	0	0	0	0	0	1	11987	1277	45	1		1	PKD1	16	2159612	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1413844	2159612	88195141	133	15974										
CREBBP	1387	genome.wustl.edu	37	chr16	3794922	3794922	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	actgaatttgttttcttttcGaggtctgccagttttcttca	7	8	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:3794922G>A	ENST00000262367.5	-	23	4764	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.R1281*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1319	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTTCTTTTCGAGGTCTGCCA	0.368			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													114	106	108					16																	3794922		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3955C>T	16.37:g.3794922G>A	ENSP00000262367:p.Arg1319*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1319*	ENST00000262367.5	37	c.3955	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.814886	0.96982	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.49	4.51	0.55191	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6244	15.8521	0.78940	0.0:0.0:0.8632:0.1368	.	.	.	.	X	1319;1349;1281	.	ENSP00000262367:R1319X	R	-	1	2	CREBBP	3734923	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	2.616000	0.46376	1.419000	0.47118	0.561000	0.74099	CGA	CREBBP	-	superfamily_Znf_FYVE_PHD		0.368	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3794922	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	0.990	A	A	3794922	G	A	3794922	4	1	107	1	0	0	0	0	0	1	0	0	3866	1066	37	1	3409	1	CREBBP	16	3794922	Nonsense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1635310	3794922	86559831	134	15975										
MGRN1	23295	genome.wustl.edu	37	chr16	4731718	4731718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agctgtcccctcgcggctatCgaccacatcctggacagcag	10	16	0	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:4731718C>T	ENST00000399577.5	+	13	1392	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	MGRN1_ENST00000262370.7_Silent_p.I433I|MGRN1_ENST00000588994.1_Silent_p.I411I|MGRN1_ENST00000586183.1_Silent_p.I411I|MGRN1_ENST00000415496.1_Silent_p.I412I	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	433					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCGCGGCTATCGACCACATCC	0.652																																																	0													23	27	26					16																	4731718		2117	4222	6339	SO:0001819	synonymous_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1299C>T	16.37:g.4731718C>T			A4URL3|A4URL4|Q86W76	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.I433	ENST00000399577.5	37	c.1299	CCDS45402.1	16																																																																																			MGRN1	-	NULL		0.652	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4731718	1	no_errors	ENST00000262370	ensembl	human	known	70_37	silent	SNP	0.000	T	T	4731718	C	T	4731718	2	4	107	1	0	0	0	0	0	0	0	1	9582	874	31	1		1	MGRN1	16	4731718	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	936796	4731718	85623035	135	15976										
PPL	5493	genome.wustl.edu	37	chr16	4960929	4960929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgcagctgctcgatcagctcCgagagctccttgttagagat	11	11	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:4960929C>T	ENST00000345988.2	-	2	173	c.84G>A	c.(82-84)tcG>tcA	p.S28S	PPL_ENST00000590782.2_Silent_p.S28S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	28					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGATCAGCTCCGAGAGCTCCT	0.622																																																	0													103	73	83					16																	4960929		2197	4300	6497	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.84G>A	16.37:g.4960929C>T			O60314|O60454|Q14C98	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S28	ENST00000345988.2	37	c.84	CCDS10526.1	16																																																																																			PPL	-	NULL		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4960929	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	silent	SNP	0.977	T	T	4960929	C	T	4960929	2	4	107	1	0	0	0	0	0	0	0	1	12361	639	23	2		2	PPL	16	4960929	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	229211	4960929	85393824	136	15977										
SLC12A3	6559	genome.wustl.edu	37	chr16	56920999	56920999	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cgcagaggcgtccagatcctCatgcaggtgccatggactgg	14	12	1	2	rs201038360		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:56920999C>T	ENST00000563236.1	+	17	2197	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	SLC12A3_ENST00000438926.2_Silent_p.L724L|SLC12A3_ENST00000262502.5_Silent_p.L723L|SLC12A3_ENST00000566786.1_Silent_p.L723L			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	724					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCAGATCCTCATGCAGGTGC	0.587																																																	0								C	,,	0,4396		0,0,2198	67	63	64		2172,2169,2172	-0.2	1	16		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	724/1031,723/1030,724/1022	56920999	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2172C>T	16.37:g.56920999C>T			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L724	ENST00000563236.1	37	c.2172	CCDS58464.1	16																																																																																			SLC12A3	-	tigrfam_Na/K/Cl_cotransptS		0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	C			56920999	1	no_errors	ENST00000438926	ensembl	human	known	70_37	silent	SNP	0.950	T	T	56920999	C	T	56920999	2	4	107	1	0	0	0	0	0	0	0	1	14414	813	29	1		1	SLC12A3	16	56920999	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	51960070	56920999	33433754	137	15978										
CX3CL1	6376	genome.wustl.edu	37	chr16	57416206	57416206	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaagcacagagggccctgggGacctccccagagctgccgac	14	15	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:57416206G>A	ENST00000006053.6	+	3	567	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CX3CL1_ENST00000565912.1_Silent_p.G114G|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Silent_p.G158G	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	152	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGCCCTGGGGACCTCCCCAG	0.662																																																	0													26	30	28					16																	57416206		2195	4283	6478	SO:0001819	synonymous_variant	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.456G>A	16.37:g.57416206G>A			O00672	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.G152	ENST00000006053.6	37	c.456	CCDS10779.1	16																																																																																			CX3CL1	-	NULL		0.662	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	G	NM_002996		57416206	1	no_errors	ENST00000006053	ensembl	human	known	70_37	silent	SNP	0.136	A	A	57416206	G	A	57416206	2	1	107	1	0	0	0	0	0	0	0	1	4079	1161	41	1		1	CX3CL1	16	57416206	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	495207	57416206	32938547	138	15979										
GALNS	2588	genome.wustl.edu	37	chr16	88902139	88902139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gagccaggactcaccgccctCgctgactggtgcccaagaag	12	15	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:88902139C>T	ENST00000268695.5	-	7	840	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	GALNS_ENST00000542788.1_Missense_Mutation_p.R176Q	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	251	Catalytic domain.		R -> Q. {ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCACCGCCCTCGCTGACTGGT	0.612																																					GBM(129;1929 2344 25209 33204)												0													90	83	85					16																	88902139		2198	4300	6498	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.752G>A	16.37:g.88902139C>T	ENSP00000268695:p.Arg251Gln		Q86VK3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R251Q	ENST00000268695.5	37	c.752	CCDS10970.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.561765	0.96527	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.98777	-5.13;-5.13	5.05	5.05	0.67936	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98422	0.9475	L	0.53671	1.685	0.80722	D	1	D;D	0.67145	0.974;0.996	P;P	0.57204	0.629;0.815	D	0.98768	1.0727	10	0.42905	T	0.14	.	18.4234	0.90600	0.0:1.0:0.0:0.0	.	251;251	B2R6P1;P34059	.;GALNS_HUMAN	Q	251;176	ENSP00000268695:R251Q;ENSP00000438197:R176Q	ENSP00000268695:R251Q	R	-	2	0	GALNS	87429640	1.000000	0.71417	0.996000	0.52242	0.639000	0.38242	7.314000	0.78988	2.364000	0.80123	0.505000	0.49811	CGA	GALNS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.612	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	C			88902139	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88902139	C	T	88902139	3	4	107	1	0	0	0	0	1	0	0	0	6225	884	31	1	848	1	GALNS	16	88902139	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	31485933	88902139	1452614	139	15980										
DHX33	56919	genome.wustl.edu	37	chr17	5359375	5359375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agggcagggaggcgtacagaGgaaggaccagcatcgcaggg	19	8	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:5359375G>A	ENST00000225296.3	-	5	1177	c.977C>T	c.(976-978)cCt>cTt	p.P326L	DHX33_ENST00000433302.3_Silent_p.S139S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	326	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCGTACAGAGGAAGGACCAG	0.607																																																	0													163	120	134					17																	5359375		2203	4300	6503	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.977C>T	17.37:g.5359375G>A	ENSP00000225296:p.Pro326Leu		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P326L	ENST00000225296.3	37	c.977	CCDS11072.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043386	0.75732	.	.	ENSG00000005100	ENST00000225296	T	0.03212	4.01	5.78	5.78	0.91487	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.91090	3.175	0.80722	D	1	D	0.54207	0.965	P	0.59643	0.861	T	0.01993	-1.1233	10	0.87932	D	0	.	18.9968	0.92817	0.0:0.0:1.0:0.0	.	326	Q9H6R0	DHX33_HUMAN	L	326	ENSP00000225296:P326L	ENSP00000225296:P326L	P	-	2	0	DHX33	5300099	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	9.769000	0.98969	2.717000	0.92951	0.655000	0.94253	CCT	DHX33	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.607	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	HGNC	protein_coding	OTTHUMT00000219826.2	G	NM_020162		5359375	-1	no_errors	ENST00000225296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5359375	G	A	5359375	3	1	107	1	0	0	0	0	1	0	0	0	4516	1000	35	4	1178	4	DHX33	17	5359375	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		5359375	75835835	140	15981										
POLR2A	5430	genome.wustl.edu	37	chr17	7401106	7401106	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atcacccccgaccccaacctCtccattgaccaggttggcgt	7	18	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:7401106C>G	ENST00000322644.6	+	7	1518	c.1119C>G	c.(1117-1119)ctC>ctG	p.L373L	POLR2A_ENST00000572844.1_Silent_p.L373L	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	373					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCCAACCTCTCCATTGACC	0.592																																																	0													141	131	134					17																	7401106		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1119C>G	17.37:g.7401106C>G			A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.L373	ENST00000322644.6	37	c.1119	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_asu,smart_RNA_pol_N		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7401106	1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.982	G	G	7401106	C	G	7401106	2	3	107	1	0	0	0	0	0	0	0	1	12238	900	32	1		1	POLR2A	17	7401106	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	2041731	7401106	73794104	141	15982										
ALOXE3	59344	genome.wustl.edu	37	chr17	8000035	8000035	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cgctcctggatgtcccttgaGatctgggccaggcggctctg	14	13	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:8000035G>C	ENST00000448843.2	-	16	2386	c.2046C>G	c.(2044-2046)atC>atG	p.I682M	ALOXE3_ENST00000318227.3_Missense_Mutation_p.I814M|ALOXE3_ENST00000380149.1_Missense_Mutation_p.I838M	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	682	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGTCCCTTGAGATCTGGGCCA	0.637																																																	0													110	107	108					17																	8000035		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.2046C>G	17.37:g.8000035G>C	ENSP00000400581:p.Ile682Met		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.I814M	ENST00000448843.2	37	c.2442	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.142024	0.57044	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.81579	-1.51;-1.51;-1.51	5.13	3.03	0.35002	Lipoxygenase, C-terminal (3);	0.049115	0.85682	D	0.000000	D	0.87172	0.6111	M	0.87827	2.91	0.47123	D	0.999325	P;D;D	0.60160	0.69;0.987;0.987	P;D;D	0.67900	0.64;0.954;0.954	D	0.84522	0.0628	10	0.52906	T	0.07	-31.9908	3.5476	0.07835	0.2673:0.0:0.5532:0.1795	.	814;682;682	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	M	838;814;682	ENSP00000369494:I838M;ENSP00000314879:I814M;ENSP00000400581:I682M	ENSP00000314879:I814M	I	-	3	3	ALOXE3	7940760	0.974000	0.33945	0.999000	0.59377	0.913000	0.54294	-0.000000	0.12993	0.765000	0.33221	0.643000	0.83706	ATC	ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C		0.637	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	G			8000035	-1	no_errors	ENST00000318227	ensembl	human	known	70_37	missense	SNP	0.999	C	C	8000035	G	C	8000035	3	2	107	1	0	0	0	0	1	0	0	0	542	932	33	1	93	1	ALOXE3	17	8000035	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	598929	8000035	73195175	142	15983										
MYH1	4619	genome.wustl.edu	37	chr17	10406094	10406094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agtttgattttagctttggtCagggtgttgactttgtcctc	11	6	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:10406094C>T	ENST00000226207.5	-	24	3166	c.3072G>A	c.(3070-3072)ctG>ctA	p.L1024L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1024					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAGCTTTGGTCAGGGTGTTGA	0.408																																																	0													148	146	147					17																	10406094		2203	4298	6501	SO:0001819	synonymous_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3072G>A	17.37:g.10406094C>T			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1024	ENST00000226207.5	37	c.3072	CCDS11155.1	17																																																																																			MYH1	-	NULL		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10406094	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10406094	C	T	10406094	2	4	107	1	0	0	0	0	0	0	0	1	10052	813	29	1		1	MYH1	17	10406094	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	2406059	10406094	70789116	143	15984										
FBXW10	10517	genome.wustl.edu	37	chr17	18647791	18647791	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tatttccaaaatatccttcaGaccacacagggaaaggattt	6	9	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:18647791G>C	ENST00000395665.4	+	1	455	c.234G>C	c.(232-234)caG>caC	p.Q78H	FBXW10_ENST00000395667.1_Missense_Mutation_p.Q78H|FBXW10_ENST00000308799.4_Missense_Mutation_p.Q78H|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q78H			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	78										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ATATCCTTCAGACCACACAGG	0.403																																																	0													73	78	76					17																	18647791		2201	4296	6497	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.234G>C	17.37:g.18647791G>C	ENSP00000379025:p.Gln78His		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q78H	ENST00000395665.4	37	c.234	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	g	4.583	0.108352	0.08780	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	3.31	1.12	0.20585	.	0.558259	0.16528	U	0.210488	T	0.29524	0.0736	L	0.40543	1.245	0.09310	N	1	P;D;P;P	0.57571	0.95;0.98;0.917;0.899	P;P;P;P	0.56700	0.735;0.804;0.548;0.568	T	0.03750	-1.1007	10	0.54805	T	0.06	.	7.1091	0.25380	0.0:0.1833:0.6305:0.1862	.	78;78;78;78	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	H	78	ENSP00000379026:Q78H;ENSP00000310382:Q78H;ENSP00000306937:Q78H;ENSP00000379025:Q78H	ENSP00000306937:Q78H	Q	+	3	2	FBXW10	18588516	0.985000	0.35326	0.678000	0.29963	0.916000	0.54674	2.144000	0.42197	1.667000	0.50832	0.405000	0.27470	CAG	FBXW10	-	NULL		0.403	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	G	NM_031456		18647791	1	no_errors	ENST00000308799	ensembl	human	known	70_37	missense	SNP	0.006	C	C	18647791	G	C	18647791	3	2	107	1	0	0	0	0	1	0	0	0	5781	933	33	1	236	1	FBXW10	17	18647791	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	8241697	18647791	62547419	144	15985										
KRT32	3882	genome.wustl.edu	37	chr17	39623183	39623183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tggtgagcacctgggagtgaGaggcctcttggatcctgctc	15	10	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:39623183G>C	ENST00000225899.3	-	1	498	c.395C>G	c.(394-396)tCt>tGt	p.S132C	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	132	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTGGGAGTGAGAGGCCTCTTG	0.592																																																	0													108	95	99					17																	39623183		2203	4300	6503	SO:0001583	missense	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.395C>G	17.37:g.39623183G>C	ENSP00000225899:p.Ser132Cys			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S132C	ENST00000225899.3	37	c.395	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.093488	0.00364	.	.	ENSG00000108759	ENST00000225899	D	0.89270	-2.49	5.23	0.759	0.18438	Filament (1);	1.005750	0.08011	N	0.990330	T	0.68016	0.2955	N	0.01817	-0.705	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.56263	-0.8008	10	0.26408	T	0.33	.	1.071	0.01621	0.1554:0.3173:0.286:0.2414	.	132	Q14532	K1H2_HUMAN	C	132	ENSP00000225899:S132C	ENSP00000225899:S132C	S	-	2	0	KRT32	36876709	0.002000	0.14202	0.045000	0.18777	0.462000	0.32619	-0.204000	0.09425	-0.007000	0.14345	-0.502000	0.04539	TCT	KRT32	-	pfam_F		0.592	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	G	NM_002278		39623183	-1	no_errors	ENST00000225899	ensembl	human	known	70_37	missense	SNP	0.008	C	C	39623183	G	C	39623183	3	2	107	1	0	0	0	0	1	0	0	0	8488	942	33	1	979	1	KRT32	17	39623183	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	20975392	39623183	41572027	145	15986										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40844536	40844536	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gcatcccgggatgtggtcttCgcctttgatgtggggaatgg	16	8	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:40844536C>T	ENST00000264638.4	+	17	2767	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	850	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATGTGGTCTTCGCCTTTGATG	0.517																																																	0													146	126	133					17																	40844536		2203	4300	6503	SO:0001819	synonymous_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2550C>T	17.37:g.40844536C>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F850	ENST00000264638.4	37	c.2550	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.517	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	C	NM_003632		40844536	1	no_errors	ENST00000264638	ensembl	human	known	70_37	silent	SNP	0.856	T	T	40844536	C	T	40844536	2	4	107	1	0	0	0	0	0	0	0	1	3651	883	31	1		1	CNTNAP1	17	40844536	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	1221353	40844536	40350674	146	15987										
FMNL1	752	genome.wustl.edu	37	chr17	43314692	43314692	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cacccagcctgtgtcaatgaGattgctctgagcctcaacaa	8	13	3	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:43314692G>C	ENST00000331495.3	+	8	1104	c.768G>C	c.(766-768)gaG>gaC	p.E256D	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.E256D|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	256	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTGTCAATGAGATTGCTCTGA	0.552																																					GBM(164;1247 1997 8702 11086 51972)												0													127	114	118					17																	43314692		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.768G>C	17.37:g.43314692G>C	ENSP00000329219:p.Glu256Asp		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E256D	ENST00000331495.3	37	c.768	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117815	0.37339	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.89196	-2.48;-2.48	3.91	3.91	0.45181	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.177647	0.48286	D	0.000183	D	0.92061	0.7484	M	0.80028	2.48	0.49299	D	0.999773	D	0.71674	0.998	D	0.65573	0.936	D	0.88980	0.3407	10	0.12766	T	0.61	.	9.86	0.41109	0.0959:0.0:0.9041:0.0	.	256	O95466	FMNL_HUMAN	D	256	ENSP00000327442:E256D;ENSP00000329219:E256D	ENSP00000327442:E256D	E	+	3	2	FMNL1	40670475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.441000	0.35035	2.468000	0.83385	0.462000	0.41574	GAG	FMNL1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.552	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43314692	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43314692	G	C	43314692	3	2	107	1	0	0	0	0	1	0	0	0	5969	933	33	1	798	1	FMNL1	17	43314692	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	2470156	43314692	37880518	147	15988										
FMNL1	752	genome.wustl.edu	37	chr17	43314951	43314951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggagctgctggcggccgtgtGcttggtgcggggaggacatg	21	8	0	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:43314951G>C	ENST00000331495.3	+	9	1175	c.839G>C	c.(838-840)tGc>tCc	p.C280S	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.C280S|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGGCCGTGTGCTTGGTGCGG	0.592																																					GBM(164;1247 1997 8702 11086 51972)												0													137	131	133					17																	43314951		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.839G>C	17.37:g.43314951G>C	ENSP00000329219:p.Cys280Ser		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.C280S	ENST00000331495.3	37	c.839	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063532	0.55432	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.92752	-3.1;-3.1	3.93	2.94	0.34122	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.143817	0.64402	D	0.000007	D	0.95579	0.8563	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95919	0.8929	10	0.87932	D	0	.	13.6105	0.62076	0.0:0.1571:0.8429:0.0	.	280	O95466	FMNL_HUMAN	S	280	ENSP00000327442:C280S;ENSP00000329219:C280S	ENSP00000327442:C280S	C	+	2	0	FMNL1	40670734	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	9.657000	0.98554	1.218000	0.43458	0.462000	0.41574	TGC	FMNL1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43314951	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43314951	G	C	43314951	3	2	107	1	0	0	0	0	1	0	0	0	5969	1319	46	4	873	4	FMNL1	17	43314951	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	259	43314951	37880259	148	15989										
FMNL1	752	genome.wustl.edu	37	chr17	43322670	43322670	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gctccctgcagcgaggcctaGagttgacacagagagagttt	13	10	0	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:43322670G>C	ENST00000331495.3	+	22	3115	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.E505Q|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.E927Q|MAP3K14-AS1_ENST00000591263.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	927	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGAGGCCTAGAGTTGACACA	0.617																																					GBM(164;1247 1997 8702 11086 51972)												0													103	98	99					17																	43322670		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2779G>C	17.37:g.43322670G>C	ENSP00000329219:p.Glu927Gln		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E927Q	ENST00000331495.3	37	c.2779	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451410	0.84209	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17854	2.25;2.25	4.18	4.18	0.49190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.66378	2.025	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.05370	-1.0889	10	0.20519	T	0.43	.	15.5655	0.76287	0.0:0.0:1.0:0.0	.	927	O95466	FMNL_HUMAN	Q	927;927;582	ENSP00000327442:E927Q;ENSP00000329219:E927Q	ENSP00000327442:E927Q	E	+	1	0	FMNL1	40678453	1.000000	0.71417	0.989000	0.46669	0.624000	0.37722	9.546000	0.98097	2.330000	0.79161	0.289000	0.19496	GAG	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.617	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43322670	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43322670	G	C	43322670	3	2	107	1	0	0	0	0	1	0	0	0	5969	943	33	1	2865	1	FMNL1	17	43322670	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	7719	43322670	37872540	149	15990										
STXBP4	252983	genome.wustl.edu	37	chr17	53068305	53068305	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcaggaaattattcctggagGagactgttataaggtaaaaa	10	4	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:53068305G>C	ENST00000376352.2	+	4	374	c.167G>C	c.(166-168)gGa>gCa	p.G56A	STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Missense_Mutation_p.G56A|STXBP4_ENST00000398391.2_Intron|STXBP4_ENST00000434978.2_Missense_Mutation_p.G56A	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATTCCTGGAGGAGACTGTTAT	0.373																																																	0													114	124	121					17																	53068305		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.167G>C	17.37:g.53068305G>C	ENSP00000365530:p.Gly56Ala		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.G56A	ENST00000376352.2	37	c.167	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779895	0.90195	.	.	ENSG00000166263	ENST00000376352;ENST00000405898;ENST00000434978	T;T;T	0.26518	1.73;1.73;1.73	5.72	5.72	0.89469	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73519	-0.3957	10	0.87932	D	0	-21.856	18.8682	0.92301	0.0:0.0:1.0:0.0	.	56;56	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	A	56	ENSP00000365530:G56A;ENSP00000385944:G56A;ENSP00000391087:G56A	ENSP00000365530:G56A	G	+	2	0	STXBP4	50423304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.717000	0.91425	2.703000	0.92315	0.655000	0.94253	GGA	STXBP4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.373	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53068305	1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53068305	G	C	53068305	3	2	107	1	0	0	0	0	1	0	0	0	15385	1174	41	1	173	1	STXBP4	17	53068305	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	9745635	53068305	28126905	150	15991										
DGKE	8526	genome.wustl.edu	37	chr17	54926195	54926195	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgcgaaatgtaatggaagcaGatggaattaaactagatcgg	12	4	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:54926195G>A	ENST00000284061.3	+	6	1207	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	343	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AATGGAAGCAGATGGAATTAA	0.398																																																	0													130	126	127					17																	54926195		2203	4300	6503	SO:0001583	missense	8526			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1027G>A	17.37:g.54926195G>A	ENSP00000284061:p.Asp343Asn		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.D343N	ENST00000284061.3	37	c.1027	CCDS11590.1	17	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900065	0.72754	.	.	ENSG00000153933	ENST00000284061	T	0.25579	1.79	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.144263	0.64402	D	0.000009	T	0.26991	0.0661	L	0.41573	1.285	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.25759	0.063;0.063	T	0.03335	-1.1047	10	0.27082	T	0.32	.	19.5907	0.95509	0.0:0.0:1.0:0.0	.	343;343	A1L4Q0;P52429	.;DGKE_HUMAN	N	343	ENSP00000284061:D343N	ENSP00000284061:D343N	D	+	1	0	DGKE	52281194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.019000	0.93662	2.642000	0.89623	0.563000	0.77884	GAT	DGKE	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.398	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKE	HGNC	protein_coding	OTTHUMT00000440601.1	G	NM_003647		54926195	1	no_errors	ENST00000284061	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54926195	G	A	54926195	3	1	107	1	0	0	0	0	1	0	0	0	4478	942	33	1	1045	1	DGKE	17	54926195	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1857890	54926195	26269015	151	15992										
C17orf71	55181	genome.wustl.edu	37	chr17	57289129	57289129	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtgaggagaggagtttaactGatcaacactgtgtgcacaaa	12	6	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:57289129G>A	ENST00000543872.2	+	2	1981	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	SMG8_ENST00000578922.1_Missense_Mutation_p.D573N|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.D573N|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	573					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAGTTTAACTGATCAACACTG	0.383																																																	0													104	93	97					17																	57289129		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1717G>A	17.37:g.57289129G>A	ENSP00000438748:p.Asp573Asn		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.D573N	ENST00000543872.2	37	c.1717	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780696	0.70222	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.46063	0.88;0.88	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.47716	1.5	0.58432	D	0.999995	D	0.65815	0.995	D	0.66602	0.945	T	0.55636	-0.8110	10	0.51188	T	0.08	-19.8722	18.9389	0.92597	0.0:0.0:1.0:0.0	.	573	Q8ND04	SMG8_HUMAN	N	573	ENSP00000300917:D573N;ENSP00000438748:D573N	ENSP00000300917:D573N	D	+	1	0	SMG8	54643911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.705000	0.92388	0.655000	0.94253	GAT	SMG8	-	pfam_Smg8/Smg9		0.383	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57289129	1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57289129	G	A	57289129	3	1	107	1	0	0	0	0	1	0	0	0	1882	1290	45	1	1719	1	C17orf71	17	57289129	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	2362934	57289129	23906081	152	15993										
CCDC57	284001	genome.wustl.edu	37	chr17	80151681	80151681	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cctggttagctgcacagagtGaagtttatcctctaaatcct	8	10	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:80151681G>A	ENST00000389641.4	-	6	838	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	CCDC57_ENST00000392343.3_Missense_Mutation_p.H268Y|CCDC57_ENST00000392347.1_Missense_Mutation_p.H268Y			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	268										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCACAGAGTGAAGTTTATCC	0.443																																																	0													94	89	91					17																	80151681		1931	4139	6070	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.802C>T	17.37:g.80151681G>A	ENSP00000374292:p.His268Tyr		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.H268Y	ENST00000389641.4	37	c.802		17	.	.	.	.	.	.	.	.	.	.	g	4.461	0.085438	0.08583	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.22945	3.09;3.09;1.93	4.78	0.423	0.16463	.	1.246340	0.05489	N	0.556198	T	0.12347	0.0300	N	0.08118	0	0.09310	N	0.999996	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.28554	-1.0040	10	0.30078	T	0.28	-9.3445	3.7684	0.08632	0.2846:0.0:0.546:0.1695	.	268;268	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	Y	268	ENSP00000374292:H268Y;ENSP00000376158:H268Y;ENSP00000376154:H268Y	ENSP00000374292:H268Y	H	-	1	0	CCDC57	77744970	0.002000	0.14202	0.007000	0.13788	0.747000	0.42532	0.671000	0.25172	-0.056000	0.13221	0.558000	0.71614	CAC	CCDC57	-	NULL		0.443	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	G	NM_198082		80151681	-1	no_errors	ENST00000389641	ensembl	human	known	70_37	missense	SNP	0.083	A	A	80151681	G	A	80151681	3	1	107	1	0	0	0	0	1	0	0	0	2832	1290	45	1	1993	1	CCDC57	17	80151681	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	22862552	80151681	1043529	153	15994										
DLGAP1	9229	genome.wustl.edu	37	chr18	3879204	3879204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggccttctggtaaacctcccGggcccggctcacggtgagcg	14	15	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:3879204G>A	ENST00000315677.3	-	4	1460	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R289W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R289W|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R289W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	289					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TAAACCTCCCGGGCCCGGCTC	0.632																																																	0													53	50	51					18																	3879204		2203	4300	6503	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.865C>T	18.37:g.3879204G>A	ENSP00000316377:p.Arg289Trp		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.R289W	ENST00000315677.3	37	c.865	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794013	0.70452	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.37235	1.21;1.21	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.78049	2.395	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.67902	-0.5550	10	0.87932	D	0	-19.5296	15.4385	0.75165	0.0:0.0:0.8528:0.1472	.	289;289;289	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	289	ENSP00000316377:R289W;ENSP00000445973:R289W	ENSP00000316377:R289W	R	-	1	2	DLGAP1	3869204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.893000	0.69798	1.296000	0.44742	0.655000	0.94253	CGG	DLGAP1	-	NULL		0.632	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	G			3879204	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3879204	G	A	3879204	3	1	107	1	0	0	0	0	1	0	0	0	4569	1115	39	2	2163	2	DLGAP1	18	3879204	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		3879204	74198044	154	15995										
CEP76	79959	genome.wustl.edu	37	chr18	12699876	12699876	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aacaaataggttgttttggaGaggaagggagttcttgctca	13	4	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:12699876G>C	ENST00000262127.2	-	3	473	c.248C>G	c.(247-249)tCt>tGt	p.S83C	PSMG2_ENST00000317615.6_5'Flank|CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Missense_Mutation_p.S83C|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	83					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTTTTGGAGAGGAAGGGAG	0.279																																																	0													30	29	29					18																	12699876		2202	4299	6501	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.248C>G	18.37:g.12699876G>C	ENSP00000262127:p.Ser83Cys		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S83C	ENST00000262127.2	37	c.248	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557115	0.45590	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80824	-1.38;-1.42	5.79	5.79	0.91817	.	0.299670	0.37530	N	0.002053	D	0.82328	0.5013	L	0.34521	1.04	0.25836	N	0.984117	D;D;P	0.69078	0.997;0.982;0.457	P;P;B	0.60473	0.875;0.642;0.35	T	0.76277	-0.3018	10	0.54805	T	0.06	-16.6897	13.6524	0.62318	0.0:0.0:0.8457:0.1543	.	83;83;83	B4DP81;Q8TAP6-2;Q8TAP6	.;.;CEP76_HUMAN	C	83	ENSP00000262127:S83C;ENSP00000403074:S83C	ENSP00000262127:S83C	S	-	2	0	CEP76	12689876	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	3.311000	0.51919	2.734000	0.93682	0.655000	0.94253	TCT	CEP76	-	NULL		0.279	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	G	NM_024899		12699876	-1	no_errors	ENST00000262127	ensembl	human	known	70_37	missense	SNP	0.996	C	C	12699876	G	C	12699876	3	2	107	1	0	0	0	0	1	0	0	0	3266	942	33	1	1771	1	CEP76	18	12699876	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	8820672	12699876	65377372	155	15996										
DCC	1630	genome.wustl.edu	37	chr18	50731697	50731697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cggtccagtccaaggttacaGattgttctgcactgaggtgt	12	9	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:50731697G>C	ENST00000442544.2	+	10	2301	c.1685G>C	c.(1684-1686)aGa>aCa	p.R562T	DCC_ENST00000412726.1_Missense_Mutation_p.R410T|DCC_ENST00000581580.1_Missense_Mutation_p.R217T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	562	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAGGTTACAGATTGTTCTGC	0.488																																																	0													200	181	188					18																	50731697		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1685G>C	18.37:g.50731697G>C	ENSP00000389140:p.Arg562Thr			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R562T	ENST00000442544.2	37	c.1685	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217488	0.39201	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57907	0.37;0.37	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.39397	1.21	0.47698	D	0.999493	P;P;D	0.71674	0.942;0.942;0.998	P;P;D	0.74023	0.828;0.762;0.982	T	0.67684	-0.5607	10	0.87932	D	0	.	18.7793	0.91925	0.0:0.0:1.0:0.0	.	410;410;562	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	562;495;410	ENSP00000389140:R562T;ENSP00000397322:R410T	ENSP00000304146:R495T	R	+	2	0	DCC	48985695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.952000	0.63618	2.722000	0.93159	0.655000	0.94253	AGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50731697	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50731697	G	C	50731697	3	2	107	1	0	0	0	0	1	0	0	0	4287	942	33	1	1723	1	DCC	18	50731697	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	38031821	50731697	27345551	156	15997										
PARD6G	84552	genome.wustl.edu	37	chr18	77918347	77918347	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gggaccaggtccacatcgatGatggatgatacggggcggaa	16	8	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:77918347G>A	ENST00000353265.3	-	3	635	c.438C>T	c.(436-438)atC>atT	p.I146I	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	146	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCACATCGATGATGGATGATA	0.716																																																	0													23	19	21					18																	77918347		2180	4277	6457	SO:0001819	synonymous_variant	84552				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"par-6 (partitioning defective 6, C.elegans) homolog gamma", "par-6 partitioning defective 6 homolog gamma (C. elegans)"			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.438C>T	18.37:g.77918347G>A			A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.I146	ENST00000353265.3	37	c.438	CCDS12022.1	18																																																																																			PARD6G	-	superfamily_PDZ		0.716	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	G	NM_032510		77918347	-1	no_errors	ENST00000353265	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77918347	G	A	77918347	2	1	107	1	0	0	0	0	0	0	0	1	11471	1280	45	1		1	PARD6G	18	77918347	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	27186650	77918347	158901	157	15998										
UQCR11	10975	genome.wustl.edu	37	chr19	1605403	1605403	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cgtgggcccaggaaccgggtCaccatcgcggcggagtcgca	16	14	1	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:1605403C>T	ENST00000591899.3	-	1	77	c.6G>A	c.(4-6)gtG>gtA	p.V2V	UQCR11_ENST00000585671.1_Silent_p.V2V|UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000589880.1_Silent_p.V2V|UQCR11_ENST00000585937.1_Silent_p.V2V	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	2					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|lung(2)|ovary(1)|prostate(1)	5						GGAACCGGGTCACCATCGCGG	0.766																																																	0													18	19	19					19																	1605403		2190	4283	6473	SO:0001819	synonymous_variant	10975			D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"Mitochondrial respiratory chain complex / Complex III"	30862	protein-coding gene	gene with protein product	"complex III subunit 10"	609711	"ubiquinol-cytochrome c reductase, 6.4kDa subunit"	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.6G>A	19.37:g.1605403C>T			B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Silent	SNP	pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4	p.V2	ENST00000591899.3	37	c.6	CCDS12073.1	19																																																																																			UQCR11	-	pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4		0.766	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCR11	Uniprot_genename	protein_coding	OTTHUMT00000449668.3	C	NM_006830		1605403	-1	no_errors	ENST00000262946	ensembl	human	known	70_37	silent	SNP	0.996	T	T	1605403	C	T	1605403	2	4	107	1	0	0	0	0	0	0	0	1	17048	813	29	1		1	UQCR11	19	1605403	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09		1605403	57523580	158	15999										
SSBP4	170463	genome.wustl.edu	37	chr19	18544419	18544419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gggcgacatggacgggttgcCgaaggtaaggaggctgcgct	19	8	0	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:18544419C>G	ENST00000270061.7	+	16	1310	c.1016C>G	c.(1015-1017)cCg>cGg	p.P339R	SSBP4_ENST00000348495.6_Missense_Mutation_p.P317R|SSBP4_ENST00000599699.2_Missense_Mutation_p.P25R	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	339						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GACGGGTTGCCGAAGGTAAGG	0.746																																																	0													20	15	17					19																	18544419		2109	4173	6282	SO:0001583	missense	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.1016C>G	19.37:g.18544419C>G	ENSP00000270061:p.Pro339Arg		Q9BWW5	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.P339R	ENST00000270061.7	37	c.1016	CCDS12378.1	19	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504373	0.44558	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.45	2.36	0.29203	.	0.000000	0.64402	U	0.000002	T	0.67373	0.2886	L	0.61218	1.895	0.58432	D	0.999991	P;D	0.58620	0.932;0.983	P;D	0.69479	0.903;0.964	T	0.64702	-0.6345	9	0.49607	T	0.09	-10.8721	8.0352	0.30488	0.2434:0.7566:0.0:0.0	.	317;339	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	R	339;317	.	ENSP00000270061:P339R	P	+	2	0	SSBP4	18405419	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	3.065000	0.49994	0.540000	0.28808	0.298000	0.19748	CCG	SSBP4	-	pfam_SSDP_ss-bd		0.746	SSBP4-002	KNOWN	basic|CCDS	protein_coding	SSBP4	HGNC	protein_coding	OTTHUMT00000466348.3	C	NM_032627		18544419	1	no_errors	ENST00000270061	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18544419	C	G	18544419	3	3	107	1	0	0	0	0	1	0	0	0	15212	652	23	2	1078	2	SSBP4	19	18544419	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	16939016	18544419	40584564	159	16000										
LGI4	163175	genome.wustl.edu	37	chr19	35622312	35622312	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atggctctgcacttgaaagtCttggggtcgaggtggtggag	17	6	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:35622312C>G	ENST00000310123.3	-	6	1125	c.606G>C	c.(604-606)aaG>aaC	p.K202N	LGI4_ENST00000392225.3_Missense_Mutation_p.K202N|LGI4_ENST00000591633.1_Missense_Mutation_p.K202N|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	202	LRRCT.				adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTGAAAGTCTTGGGGTCGA	0.667																																																	0													12	11	11					19																	35622312		2137	4188	6325	SO:0001583	missense	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.606G>C	19.37:g.35622312C>G	ENSP00000312273:p.Lys202Asn		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.K202N	ENST00000310123.3	37	c.606	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554851	0.27739	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.64803	-0.12;-0.01	4.08	1.7	0.24286	Cysteine-rich flanking region, C-terminal (1);	0.874255	0.09710	N	0.765806	T	0.46870	0.1415	N	0.11064	0.09	0.23758	N	0.996921	B;B;B	0.26400	0.126;0.089;0.148	B;B;B	0.34138	0.176;0.038;0.056	T	0.47249	-0.9132	10	0.42905	T	0.14	.	11.699	0.51560	0.0:0.6595:0.3405:0.0	.	202;113;202	Q8N135-2;Q658V8;Q8N135	.;.;LGI4_HUMAN	N	202	ENSP00000312273:K202N;ENSP00000376059:K202N	ENSP00000312273:K202N	K	-	3	2	LGI4	40314152	0.669000	0.27502	0.320000	0.25306	0.507000	0.33981	1.398000	0.34554	0.682000	0.31407	0.485000	0.47835	AAG	LGI4	-	smart_Cys-rich_flank_reg_C		0.667	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	HGNC	protein_coding	OTTHUMT00000103963.1	C			35622312	-1	no_errors	ENST00000310123	ensembl	human	known	70_37	missense	SNP	0.443	G	G	35622312	C	G	35622312	3	3	107	1	0	0	0	0	1	0	0	0	8774	912	32	1	1023	1	LGI4	19	35622312	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	17077893	35622312	23506671	160	16001										
MAP3K10	4294	genome.wustl.edu	37	chr19	40720877	40720877	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ctctgaacctctcttaccagGccctcgtgaccttctggact	7	16	3	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:40720877G>A	ENST00000253055.3	+	10	2831	c.2543G>A	c.(2542-2544)gGc>gAc	p.G848D		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	848					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTCTTACCAGGCCCTCGTGAC	0.637																																																	0													26	20	22					19																	40720877		2170	4240	6410	SO:0001630	splice_region_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2543-1G>A	19.37:g.40720877G>A			Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.G848D	ENST00000253055.3	37	c.2543	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327307	0.24080	.	.	ENSG00000130758	ENST00000253055	T	0.78595	-1.19	4.5	3.47	0.39725	.	0.123056	0.53938	N	0.000054	T	0.66458	0.2791	L	0.40543	1.245	0.58432	D	0.99999	B	0.24186	0.099	B	0.22601	0.04	T	0.59658	-0.7413	9	.	.	.	.	10.2533	0.43381	0.0975:0.0:0.9025:0.0	.	848	Q02779	M3K10_HUMAN	D	848	ENSP00000253055:G848D	.	G	+	2	0	MAP3K10	45412717	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.742000	0.85008	1.121000	0.41925	0.511000	0.50034	GGC	MAP3K10	-	pirsf_MAPKKK9/10/11		0.637	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	G	NM_002446	Missense_Mutation	40720877	1	no_errors	ENST00000253055	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40720877	G	A	40720877	5	1	107	1	0	0	0	0	0	0	1	0	9267	1217	42	4	2581	4	MAP3K10	19	40720877	Splice_Site	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5098565	40720877	18408106	161	16002										
EXOC3L2	90332	genome.wustl.edu	37	chr19	45716518	45716518	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gggtgacagggctccctcctCagagagttccaggtcccggg	15	13	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:45716518C>T	ENST00000252482.3	-	9	1066	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.E347K|AC006126.3_ENST00000591569.1_Intron			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	347					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCCCTCCTCAGAGAGTTCC	0.672																																																	0													39	40	40					19																	45716518		2203	4300	6503	SO:0001583	missense	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.1039G>A	19.37:g.45716518C>T	ENSP00000252482:p.Glu347Lys		Q8N9W2|Q96GV2	Missense_Mutation	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.E347K	ENST00000252482.3	37	c.1039	CCDS12657.1	19	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033971	0.54896	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06371	3.31;3.31	4.53	2.32	0.28847	.	0.215266	0.28146	N	0.016421	T	0.05777	0.0151	L	0.57536	1.79	0.09310	N	1	P	0.43231	0.801	B	0.39971	0.315	T	0.22034	-1.0228	10	0.07990	T	0.79	.	5.4297	0.16446	0.1976:0.6962:0.0:0.1062	.	347	Q2M3D2	EX3L2_HUMAN	K	347	ENSP00000252482:E347K;ENSP00000400713:E347K	ENSP00000252482:E347K	E	-	1	0	EXOC3L2	50408358	0.011000	0.17503	0.005000	0.12908	0.839000	0.47603	1.533000	0.36040	0.330000	0.23485	0.455000	0.32223	GAG	EXOC3L2	-	pfam_Sec6		0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	C	NM_138568		45716518	-1	no_errors	ENST00000252482	ensembl	human	known	70_37	missense	SNP	0.001	T	T	45716518	C	T	45716518	3	4	107	1	0	0	0	0	1	0	0	0	5317	835	29	1	194	1	EXOC3L2	19	45716518	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	4995641	45716518	13412465	162	16003										
GPR4	2828	genome.wustl.edu	37	chr19	46094537	46094537	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ccccggtacgacagcagcatGagcgcccacgggaagaggaa	14	13	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:46094537G>C	ENST00000323040.4	-	2	1532	c.588C>G	c.(586-588)ctC>ctG	p.L196L	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	196					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGCAGCATGAGCGCCCACG	0.637																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												0													52	46	48					19																	46094537		2203	4300	6503	SO:0001819	synonymous_variant	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.588C>G	19.37:g.46094537G>C			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.L196	ENST00000323040.4	37	c.588	CCDS12669.1	19																																																																																			GPR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.637	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	G	NM_005282		46094537	-1	no_errors	ENST00000323040	ensembl	human	known	70_37	silent	SNP	1.000	C	C	46094537	G	C	46094537	2	2	107	1	0	0	0	0	0	0	0	1	6713	1277	45	1		1	GPR4	19	46094537	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	378019	46094537	13034446	163	16004										
ZNF432	9668	genome.wustl.edu	37	chr19	52537665	52537665	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	atatgacttctctactgtatGatttctctgatgtacaataa	5	7	2	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:52537665G>C	ENST00000594154.1	-	5	1479	c.1267C>G	c.(1267-1269)Cat>Gat	p.H423D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H423D			O94892	ZN432_HUMAN	zinc finger protein 432	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTACTGTATGATTTCTCTGA	0.398																																																	0													104	102	102					19																	52537665		2203	4300	6503	SO:0001583	missense	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1267C>G	19.37:g.52537665G>C	ENSP00000470488:p.His423Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H423D	ENST00000594154.1	37	c.1267	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382848	0.61845	.	.	ENSG00000256087	ENST00000221315	D	0.81908	-1.55	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93226	0.7842	H	0.95982	3.75	0.33998	D	0.649903	D	0.76494	0.999	D	0.87578	0.998	D	0.96014	0.9004	9	0.87932	D	0	.	12.5894	0.56436	0.0:0.0:1.0:0.0	.	423	O94892	ZN432_HUMAN	D	423	ENSP00000221315:H423D	ENSP00000221315:H423D	H	-	1	0	ZNF432	57229477	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.534000	0.73833	1.526000	0.49068	0.591000	0.81541	CAT	ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	G	NM_014650		52537665	-1	no_errors	ENST00000221315	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52537665	G	C	52537665	3	2	107	1	0	0	0	0	1	0	0	0	17936	1290	45	1	695	1	ZNF432	19	52537665	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	6443128	52537665	6591318	164	16005										
ZNF432	9668	genome.wustl.edu	37	chr19	52538020	52538020	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgatttcgctgatgtacaatGagattacgcttgcctgggaa	11	7	0	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:52538020G>C	ENST00000594154.1	-	5	1124	c.912C>G	c.(910-912)ctC>ctG	p.L304L	ZNF432_ENST00000221315.5_Silent_p.L304L			O94892	ZN432_HUMAN	zinc finger protein 432	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATGTACAATGAGATTACGCT	0.418																																																	0													110	104	106					19																	52538020		2203	4300	6503	SO:0001819	synonymous_variant	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.912C>G	19.37:g.52538020G>C				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L304	ENST00000594154.1	37	c.912	CCDS12848.1	19																																																																																			ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	G	NM_014650		52538020	-1	no_errors	ENST00000221315	ensembl	human	known	70_37	silent	SNP	0.987	C	C	52538020	G	C	52538020	2	2	107	1	0	0	0	0	0	0	0	1	17936	1277	45	1		1	ZNF432	19	52538020	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	355	52538020	6590963	165	16006										
TMC2	117532	genome.wustl.edu	37	chr20	2604936	2604936	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtgggaaaaacagaatgtacGatgtcctccaagagaccatt	10	8	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:2604936G>C	ENST00000358864.1	+	17	2215	c.2200G>C	c.(2200-2202)Gat>Cat	p.D734H		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	734					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAATGTACGATGTCCTCCA	0.507																																																	0													172	129	143					20																	2604936		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2200G>C	20.37:g.2604936G>C	ENSP00000351732:p.Asp734His		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.D734H	ENST00000358864.1	37	c.2200	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568111	0.45798	.	.	ENSG00000149488	ENST00000358864	T	0.65916	-0.18	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	L	0.47016	1.485	0.80722	D	1	D	0.59357	0.985	P	0.59703	0.862	T	0.68258	-0.5456	10	0.37606	T	0.19	-22.4365	16.2232	0.82269	0.0:0.0:1.0:0.0	.	734	Q8TDI7	TMC2_HUMAN	H	734	ENSP00000351732:D734H	ENSP00000351732:D734H	D	+	1	0	TMC2	2552936	1.000000	0.71417	0.817000	0.32601	0.055000	0.15305	9.748000	0.98867	2.498000	0.84270	0.650000	0.86243	GAT	TMC2	-	NULL		0.507	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2604936	1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2604936	G	C	2604936	3	2	107	1	0	0	0	0	1	0	0	0	16015	1058	37	1	2266	1	TMC2	20	2604936	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		2604936	60420584	166	16007										
EIF2S2	8894	genome.wustl.edu	37	chr20	32686316	32686316	+	Missense_Mutation	SNP	C	C	G													0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	agcattaccttcatctttctCtagtatttcatcctcatctg							TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:32686316C>G	ENST00000374980.2	-	4	642	c.421G>C	c.(421-423)Gag>Cag	p.E141Q		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	141					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCATCTTTCTCTAGTATTTCA	0.423																																																	0													129	124	126					20																	32686316		2203	4300	6503	SO:0001583	missense	8894			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.421G>C	20.37:g.32686316C>G	ENSP00000364119:p.Glu141Gln		Q9BVU0|Q9UJE4	Missense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5	p.E141Q	ENST00000374980.2	37	c.421	CCDS13231.1	20	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351759	0.61183	.	.	ENSG00000125977	ENST00000374980	T	0.49720	0.77	5.81	5.81	0.92471	.	0.227426	0.48767	D	0.000177	T	0.44456	0.1294	L	0.41415	1.275	0.50467	D	0.999875	B;B;B	0.20780	0.042;0.048;0.048	B;B;B	0.22386	0.019;0.039;0.039	T	0.18461	-1.0336	10	0.31617	T	0.26	-40.4263	20.0684	0.97708	0.0:1.0:0.0:0.0	.	141;141;141	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	Q	141	ENSP00000364119:E141Q	ENSP00000364119:E141Q	E	-	1	0	EIF2S2	32149977	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.372000	0.59530	2.734000	0.93682	0.650000	0.86243	GAG	EIF2S2	-	NULL		0.423	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S2	HGNC	protein_coding	OTTHUMT00000078765.2	C	NM_003908		32686316	-1	no_errors	ENST00000374980	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32686316	C	G	32686316	3	3	107	1	0	0	0	0	1	0	0	0	5020	922	32	1	604	1	EIF2S2	20	32686316	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	30081380	32686316	30339204	167	16008	84	2								
EIF2S2	8894	genome.wustl.edu	37	chr20	32686325	32686325	+	Nonsense_Mutation	SNP	C	C	A													0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttcatctttctctagtatttCatcctcatctgggaacttaa							TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:32686325C>A	ENST00000374980.2	-	4	633	c.412G>T	c.(412-414)Gaa>Taa	p.E138*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	138					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTAGTATTTCATCCTCATCT	0.433																																																	0													131	124	127					20																	32686325		2203	4300	6503	SO:0001587	stop_gained	8894			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.412G>T	20.37:g.32686325C>A	ENSP00000364119:p.Glu138*		Q9BVU0|Q9UJE4	Nonsense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5	p.E138*	ENST00000374980.2	37	c.412	CCDS13231.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.906683	0.97924	.	.	ENSG00000125977	ENST00000374980	.	.	.	5.81	5.81	0.92471	.	0.116480	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-28.717	20.0684	0.97708	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000364119:E138X	E	-	1	0	EIF2S2	32149986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.191000	0.72063	2.734000	0.93682	0.650000	0.86243	GAA	EIF2S2	-	NULL		0.433	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S2	HGNC	protein_coding	OTTHUMT00000078765.2	C	NM_003908		32686325	-1	no_errors	ENST00000374980	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	32686325	C	A	32686325	4	1	107	1	0	0	0	0	0	1	0	0	5020	835	29	3	613	3	EIF2S2	20	32686325	Nonsense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	9	32686325	30339195	168	16009	84	2								
C20orf24	55969	genome.wustl.edu	37	chr20	35238037	35238037	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aatgcaggagtcctgtacctCtacttcagcaattacctaca	6	12	2	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:35238037C>G	ENST00000373852.5	+	3	387	c.252C>G	c.(250-252)ctC>ctG	p.L84L	TGIF2-C20orf24_ENST00000558530.1_Silent_p.L110L|C20orf24_ENST00000342422.3_Intron|C20orf24_ENST00000344795.3_Silent_p.L84L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	84										breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TCCTGTACCTCTACTTCAGCA	0.458																																																	0													301	253	269					20																	35238037		2203	4300	6503	SO:0001819	synonymous_variant	55969			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.252C>G	20.37:g.35238037C>G			E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Silent	SNP	NULL	p.L84	ENST00000373852.5	37	c.252	CCDS56190.1	20																																																																																			C20orf24	-	NULL		0.458	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	HGNC	protein_coding	OTTHUMT00000079006.1	C	NM_018840		35238037	1	no_errors	ENST00000373852	ensembl	human	known	70_37	silent	SNP	1.000	G	G	35238037	C	G	35238037	2	3	107	1	0	0	0	0	0	0	0	1	2110	900	32	1		1	C20orf24	20	35238037	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	2551712	35238037	27787483	169	16010										
MYT1	4661	genome.wustl.edu	37	chr20	62848481	62848481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ggagctaccggcccaacgtgGcccccgccacacccagggcc	12	20	0	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:62848481G>T	ENST00000328439.1	+	11	2057	c.1693G>T	c.(1693-1695)Gcc>Tcc	p.A565S	MYT1_ENST00000360149.4_Missense_Mutation_p.A267S|MYT1_ENST00000536311.1_Missense_Mutation_p.A565S	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCCAACGTGGCCCCCGCCAC	0.592																																					GBM(59;481 1041 20555 21139 33705)												0													73	69	71					20																	62848481		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1693G>T	20.37:g.62848481G>T	ENSP00000327465:p.Ala565Ser		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.A565S	ENST00000328439.1	37	c.1693	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250968	0.39797	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.52526	0.66;0.66;0.66	5.67	5.67	0.87782	Myelin transcription factor 1 (1);	0.134363	0.52532	D	0.000061	T	0.47040	0.1424	L	0.29908	0.895	0.33305	D	0.565379	P;B;B	0.52577	0.954;0.057;0.018	P;B;B	0.47705	0.555;0.158;0.021	T	0.54655	-0.8261	10	0.39692	T	0.17	-20.1724	19.773	0.96379	0.0:0.0:1.0:0.0	.	565;565;267	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	S	267;565;565	ENSP00000353269:A267S;ENSP00000327465:A565S;ENSP00000442412:A565S	ENSP00000327465:A565S	A	+	1	0	MYT1	62318925	1.000000	0.71417	0.771000	0.31576	0.760000	0.43138	3.226000	0.51254	2.677000	0.91161	0.655000	0.94253	GCC	MYT1	-	pfam_Myelin_TF		0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	G	NM_004535		62848481	1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62848481	G	T	62848481	3	4	107	1	0	0	0	0	1	0	0	0	10129	1203	42	4	1727	4	MYT1	20	62848481	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	27610444	62848481	177039	170	16011										
ZNF74	7625	genome.wustl.edu	37	chr22	20755625	20755625	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gaacgaggcgaggagccatgGagcatgcagagggaagtccc	17	9	0	1	rs568434993		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:20755625G>A	ENST00000400451.2	+	4	820	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ZNF74_ENST00000357502.5_Missense_Mutation_p.E108K|ZNF74_ENST00000405993.1_Intron|ZNF74_ENST00000403682.3_Missense_Mutation_p.E74K|ZNF74_ENST00000356671.5_Nonsense_Mutation_p.W102*	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	102	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGAGCCATGGAGCATGCAGA	0.627																																																	0																																										SO:0001587	stop_gained	7625			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.306G>A	22.37:g.20755625G>A	ENSP00000383301:p.Trp102*		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W102*	ENST00000400451.2	37	c.306	CCDS42982.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.106639|6.106639	0.97286|0.97286	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000403682;ENST00000357502|ENST00000400451;ENST00000356671	.|.	.|.	.|.	3.78|3.78	3.78|3.78	0.43462|0.43462	.|.	.|0.000000	.|0.31484	.|N	.|0.007562	T|.	0.40222|.	0.1108|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26155|.	-1.0111|.	5|.	0.56958|0.02654	D|T	0.05|1	.|.	13.9118|13.9118	0.63871|0.63871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	74;108|102	.|.	ENSP00000350101:E108K|ENSP00000349098:W102X	E|W	+|+	1|3	0|0	ZNF74|ZNF74	19085625|19085625	0.355000|0.355000	0.24921|0.24921	0.650000|0.650000	0.29550|0.29550	0.005000|0.005000	0.04900|0.04900	2.572000|2.572000	0.45999|0.45999	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	GAG|TGG	ZNF74	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.627	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	HGNC	protein_coding	OTTHUMT00000319648.2	G	NM_003426		20755625	1	no_errors	ENST00000356671	ensembl	human	known	70_37	nonsense	SNP	0.954	A	A	20755625	G	A	20755625	4	1	107	1	0	0	0	0	0	1	0	0	18157	1183	41	1	320	1	ZNF74	22	20755625	Nonsense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		20755625	30548941	171	16012										
SEZ6L	23544	genome.wustl.edu	37	chr22	26707926	26707926	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgacacagagcccctgtgcaGaggtgagcggatccacaacg	13	12	0	4			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:26707926G>C	ENST00000248933.6	+	8	1969	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	SEZ6L_ENST00000529632.2_Missense_Mutation_p.R625T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R625T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R398T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R398T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R625T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R625T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	625	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCCTGTGCAGAGGTGAGCGG	0.612																																																	0													78	76	77					22																	26707926		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1874G>C	22.37:g.26707926G>C	ENSP00000248933:p.Arg625Thr		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R625T	ENST00000248933.6	37	c.1874	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162291	0.78226	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	4.48	4.48	0.54585	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000012	T	0.34424	0.0897	L	0.31578	0.945	0.80722	D	1	D;P;P;D;D;P;P	0.59357	0.985;0.927;0.913;0.984;0.984;0.927;0.927	P;P;B;P;P;P;P	0.59703	0.756;0.608;0.276;0.862;0.862;0.608;0.608	T	0.06445	-1.0826	10	0.52906	T	0.07	.	14.8381	0.70201	0.0:0.0:1.0:0.0	.	625;625;398;625;625;625;625	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	625;625;625;625;625;398;398	ENSP00000384772:R625T;ENSP00000437037:R625T;ENSP00000354185:R625T;ENSP00000248933:R625T;ENSP00000342661:R625T;ENSP00000384838:R398T;ENSP00000384733:R398T	ENSP00000248933:R625T	R	+	2	0	SEZ6L	25037926	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.363000	0.59473	2.474000	0.83562	0.563000	0.77884	AGA	SEZ6L	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.612	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26707926	1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26707926	G	C	26707926	3	2	107	1	0	0	0	0	1	0	0	0	14173	942	33	1	1904	1	SEZ6L	22	26707926	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5952301	26707926	24596640	172	16013										
HPS4	89781	genome.wustl.edu	37	chr22	26873059	26873059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cagaaacacagcggacaactCcagcaatctgtccacaaagc	7	14	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:26873059C>G	ENST00000398145.2	-	4	792	c.176G>C	c.(175-177)gGa>gCa	p.G59A	HPS4_ENST00000336873.5_Missense_Mutation_p.G59A|HPS4_ENST00000398141.1_Missense_Mutation_p.G54A|HPS4_ENST00000402105.3_Missense_Mutation_p.G54A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	59					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCGGACAACTCCAGCAATCTG	0.443									Hermansky-Pudlak syndrome																																								0													89	83	85					22																	26873059		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.176G>C	22.37:g.26873059C>G	ENSP00000381213:p.Gly59Ala		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.G54A	ENST00000398145.2	37	c.161	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590658	0.86851	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96641	0.9474	10	0.66056	D	0.02	-24.6905	17.9695	0.89108	0.0:1.0:0.0:0.0	.	59;54;59;54	Q6ICH6;E5RG08;Q9NQG7;Q9NQG7-3	.;.;HPS4_HUMAN;.	A	59;54;54;59;59;59	ENSP00000381213:G59A;ENSP00000381210:G54A;ENSP00000384185:G54A;ENSP00000338457:G59A;ENSP00000415081:G59A	ENSP00000325840:G59A	G	-	2	0	HPS4	25203059	1.000000	0.71417	0.257000	0.24404	0.826000	0.46750	6.168000	0.71908	2.824000	0.97209	0.655000	0.94253	GGA	HPS4	-	NULL		0.443	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	C	NM_022081		26873059	-1	no_errors	ENST00000398141	ensembl	human	known	70_37	missense	SNP	0.999	G	G	26873059	C	G	26873059	3	3	107	1	0	0	0	0	1	0	0	0	7361	855	30	1	1994	1	HPS4	22	26873059	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	165133	26873059	24431507	173	16014										
SMCR7L	54471	genome.wustl.edu	37	chr22	39908332	39908332	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tgtccctgcaggagaaacttCttacttactaccggaaccgg	9	12	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:39908332C>G	ENST00000325301.2	+	5	842	c.418C>G	c.(418-420)Ctt>Gtt	p.L140V	MIEF1_ENST00000402881.1_Missense_Mutation_p.L140V|MIEF1_ENST00000404569.1_Missense_Mutation_p.L140V	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	140	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GGAGAAACTTCTTACTTACTA	0.612																																																	0													45	47	46					22																	39908332		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.418C>G	22.37:g.39908332C>G	ENSP00000327124:p.Leu140Val		Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.L140V	ENST00000325301.2	37	c.418	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866571	0.51588	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.12984	2.63;2.64;2.64	5.67	4.59	0.56863	.	0.294132	0.39407	N	0.001364	T	0.08714	0.0216	L	0.39245	1.2	0.31423	N	0.67407	B;B	0.32573	0.008;0.376	B;B	0.27380	0.004;0.079	T	0.06391	-1.0829	10	0.29301	T	0.29	-12.0444	3.7205	0.08454	0.0:0.6601:0.0:0.3399	.	140;140	Q9NQG6;B0QY95	MID51_HUMAN;.	V	140	ENSP00000385110:L140V;ENSP00000327124:L140V;ENSP00000385191:L140V	ENSP00000327124:L140V	L	+	1	0	SMCR7L	38238278	1.000000	0.71417	0.949000	0.38748	0.998000	0.95712	3.287000	0.51732	2.671000	0.90904	0.585000	0.79938	CTT	SMCR7L	-	NULL		0.612	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	C	NM_019008		39908332	1	no_errors	ENST00000325301	ensembl	human	known	70_37	missense	SNP	0.998	G	G	39908332	C	G	39908332	3	3	107	1	0	0	0	0	1	0	0	0	14821	913	32	1	428	1	SMCR7L	22	39908332	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	13035273	39908332	11396234	174	16015										
KIAA1644	85352	genome.wustl.edu	37	chr22	44692659	44692659	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtgttgttatggtgacaacaGaggatgaaggtcttgttgtc	14	4	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:44692659G>C	ENST00000381176.4	-	3	306	c.174C>G	c.(172-174)ctC>ctG	p.L58L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	58						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTGACAACAGAGGATGAAGG	0.557																																																	0													172	189	184					22																	44692659		2134	4240	6374	SO:0001819	synonymous_variant	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.174C>G	22.37:g.44692659G>C			A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	NULL	p.L58	ENST00000381176.4	37	c.174	CCDS43025.1	22																																																																																			KIAA1644	-	NULL		0.557	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	G	NM_001099294		44692659	-1	no_errors	ENST00000381176	ensembl	human	putative	70_37	silent	SNP	0.996	C	C	44692659	G	C	44692659	2	2	107	1	0	0	0	0	0	0	0	1	8270	929	33	1		1	KIAA1644	22	44692659	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	4784327	44692659	6611907	175	16016										
PKDREJ	10343	genome.wustl.edu	37	chr22	46654350	46654350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	aattttagatggctgcaccaGaagaactgactgacagaatg	10	7	0	6			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:46654350G>A	ENST00000253255.5	-	1	4869	c.4870C>T	c.(4870-4872)Ctg>Ttg	p.L1624L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1624					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCTGCACCAGAAGAACTGAC	0.368																																																	0													81	79	80					22																	46654350		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4870C>T	22.37:g.46654350G>A			B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.L1624	ENST00000253255.5	37	c.4870	CCDS14073.1	22																																																																																			PKDREJ	-	NULL		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46654350	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.012	A	A	46654350	G	A	46654350	2	1	107	1	0	0	0	0	0	0	0	1	11994	933	33	1		1	PKDREJ	22	46654350	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1961691	46654350	4650216	176	16017			2	65		2	2	17	G		9.716332e-05
PKDREJ	10343	genome.wustl.edu	37	chr22	46654366	46654366	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	accagaagaactgactgacaGaatgaacaaaaagatgcaaa	8	7	0	7			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:46654366G>A	ENST00000253255.5	-	1	4853	c.4854C>T	c.(4852-4854)ttC>ttT	p.F1618F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1618					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGACTGACAGAATGAACAAA	0.383																																																	0													87	83	85					22																	46654366		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4854C>T	22.37:g.46654366G>A			B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.F1618	ENST00000253255.5	37	c.4854	CCDS14073.1	22																																																																																			PKDREJ	-	NULL		0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46654366	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.005	A	A	46654366	G	A	46654366	2	1	107	1	0	0	0	0	0	0	0	1	11994	933	33	1		1	PKDREJ	22	46654366	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	16	46654366	4650200	177	16018			2	65		2	2	17	G		9.716332e-05
MXRA5	25878	genome.wustl.edu	37	chrX	3240795	3240795	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtctccaaatctgggtcaaaGtattgcatgggctcagactc	10	10	4	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:3240795G>C	ENST00000217939.6	-	5	3085	c.2931C>G	c.(2929-2931)taC>taG	p.Y977*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	977						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTCAAAGTATTGCATGG	0.498																																																	0													114	84	94					X																	3240795		2203	4300	6503	SO:0001587	stop_gained	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2931C>G	X.37:g.3240795G>C	ENSP00000217939:p.Tyr977*		Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y977*	ENST00000217939.6	37	c.2931	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	37	6.634945	0.97722	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.33	0.561	0.17285	.	0.441295	0.16654	U	0.205113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0093	0.19567	0.7609:0.0:0.2391:0.0	.	.	.	.	X	977	.	ENSP00000217939:Y977X	Y	-	3	2	MXRA5	3250795	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.258000	0.18387	-0.003000	0.14444	0.529000	0.55759	TAC	MXRA5	-	NULL		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3240795	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	3240795	G	C	3240795	4	2	107	1	0	0	0	0	0	1	0	0	10026	1024	36	4	5567	4	MXRA5	23	3240795	Nonsense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09		3240795	152029765	178	16019										
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29301125	29301125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtgggagagcctgttcgaatCaaatgtgcactcttttatgg	12	7	2	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:29301125C>T	ENST00000378993.1	+	3	826	c.153C>T	c.(151-153)atC>atT	p.I51I	IL1RAPL1_ENST00000302196.4_Silent_p.I51I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	51	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGTTCGAATCAAATGTGCAC	0.413																																																	0													151	132	138					X																	29301125		2202	4300	6502	SO:0001819	synonymous_variant	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.153C>T	X.37:g.29301125C>T			A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.I51	ENST00000378993.1	37	c.153	CCDS14218.1	X																																																																																			IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	C	NM_014271		29301125	1	no_errors	ENST00000302196	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29301125	C	T	29301125	2	4	107	1	0	0	0	0	0	0	0	1	7681	816	29	1		1	IL1RAPL1	23	29301125	Silent	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	26060330	29301125	125969435	179	16020										
FAM47C	442444	genome.wustl.edu	37	chrX	37027642	37027642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cggaacctcccaagactcgcGtacctcctctccgcccagag	8	19	1	2	rs376992053		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:37027642G>A	ENST00000358047.3	+	1	1211	c.1159G>A	c.(1159-1161)Gta>Ata	p.V387I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	387										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGACTCGCGTACCTCCTCT	0.622																																																	0								G	ILE/VAL	1,3832		0,1,1630,571	60	60	60		1159	-1.1	0	X		60	0,6728		0,0,2428,1872	no	missense	FAM47C	NM_001013736.2	29	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging	387/1036	37027642	1,10560	2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1159G>A	X.37:g.37027642G>A	ENSP00000367913:p.Val387Ile		Q6ZU46	Missense_Mutation	SNP	NULL	p.V387I	ENST00000358047.3	37	c.1159	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	g	11.93	1.787000	0.31593	2.61E-4	0.0	ENSG00000198173	ENST00000358047	T	0.18502	2.21	0.53	-1.06	0.10002	.	.	.	.	.	T	0.16214	0.0390	M	0.74881	2.28	0.09310	N	1	P	0.50710	0.938	B	0.41691	0.364	T	0.21895	-1.0232	9	0.20519	T	0.43	.	4.8125	0.13351	1.0E-4:0.0:0.65:0.3499	.	387	Q5HY64	FA47C_HUMAN	I	387	ENSP00000367913:V387I	ENSP00000367913:V387I	V	+	1	0	FAM47C	36937563	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.843000	0.27640	-0.651000	0.05415	0.183000	0.17082	GTA	FAM47C	-	NULL		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	G	NM_001013736		37027642	1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.001	A	A	37027642	G	A	37027642	3	1	107	1	0	0	0	0	1	0	0	0	5589	1145	40	2	1161	2	FAM47C	23	37027642	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	7726517	37027642	118242918	180	16021										
ZNF630	57232	genome.wustl.edu	37	chrX	47918789	47918789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	ttttggacactcaaaacactCatagggtttctctccagtat	6	10	3	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:47918789C>T	ENST00000409324.3	-	5	1268	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ZNF630_ENST00000276054.4_Missense_Mutation_p.E224K|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.E334K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCAAAACACTCATAGGGTTTC	0.433																																																	0													62	58	59					X																	47918789		2193	4288	6481	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1042G>A	X.37:g.47918789C>T	ENSP00000386393:p.Glu348Lys		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E348K	ENST00000409324.3	37	c.1042	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	1.166	-0.642500	0.03531	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.19250	2.16;2.16;2.16	2.31	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.01081	-1.03	0.09310	N	1	B	0.25850	0.136	B	0.20955	0.032	T	0.38757	-0.9646	9	0.07175	T	0.84	.	4.2028	0.10475	0.0:0.6189:0.0:0.3811	.	348	Q2M218	ZN630_HUMAN	K	334;224;348	ENSP00000393163:E334K;ENSP00000354683:E224K;ENSP00000386393:E348K	ENSP00000354683:E224K	E	-	1	0	ZNF630	47803733	0.000000	0.05858	0.590000	0.28732	0.847000	0.48162	-2.971000	0.00668	0.221000	0.20879	0.544000	0.68410	GAG	ZNF630	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47918789	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.029	T	T	47918789	C	T	47918789	3	4	107	1	0	0	0	0	1	0	0	0	18084	835	29	1	935	1	ZNF630	23	47918789	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	10891147	47918789	107351771	181	16022										
IQSEC2	23096	genome.wustl.edu	37	chrX	53276287	53276287	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gggttccggaactggcgcacGagggctgggttacagacaca	16	10	0	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:53276287G>A	ENST00000375368.5	-	7	2783	c.2583C>T	c.(2581-2583)ctC>ctT	p.L861L	IQSEC2_ENST00000396435.3_Silent_p.L871L|IQSEC2_ENST00000375365.2_Silent_p.L666L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	861	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L868L(1)|p.L871L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ACTGGCGCACGAGGGCTGGGT	0.567																																																	2	Substitution - coding silent(2)	breast(2)											132	83	99					X																	53276287		2203	4300	6503	SO:0001819	synonymous_variant	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2583C>T	X.37:g.53276287G>A			B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.L871	ENST00000375368.5	37	c.2613		X																																																																																			IQSEC2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.567	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		G	XM_291345		53276287	-1	no_errors	ENST00000396435	ensembl	human	known	70_37	silent	SNP	0.580	A	A	53276287	G	A	53276287	2	1	107	1	0	0	0	0	0	0	0	1	7838	1045	37	1		1	IQSEC2	23	53276287	Silent	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	5357498	53276287	101994273	182	16023										
MED12	9968	genome.wustl.edu	37	chrX	70341487	70341487	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gtacacggagactggccctgCagctggatggtgtgagcagt	16	9	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:70341487C>G	ENST00000374080.3	+	7	954	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	MED12_ENST00000374102.1_Missense_Mutation_p.Q308E|MED12_ENST00000333646.6_Missense_Mutation_p.Q308E			Q93074	MED12_HUMAN	mediator complex subunit 12	308					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACTGGCCCTGCAGCTGGATGG	0.557			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													63	66	65					X																	70341487		2134	4232	6366	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.922C>G	X.37:g.70341487C>G	ENSP00000363193:p.Gln308Glu		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q308E	ENST00000374080.3	37	c.922	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759412	0.49468	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.64	5.64	0.86602	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.065710	0.64402	D	0.000006	T	0.36110	0.0955	L	0.36672	1.1	0.35575	D	0.805782	P;P;P;P	0.43885	0.646;0.82;0.757;0.696	B;B;P;P	0.46629	0.388;0.301;0.506;0.522	T	0.44697	-0.9311	10	0.87932	D	0	-13.6509	18.7005	0.91618	0.0:1.0:0.0:0.0	.	308;155;308;308	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	E	308;308;308;308;276	ENSP00000333125:Q308E;ENSP00000363215:Q308E;ENSP00000363193:Q308E;ENSP00000414203:Q276E	ENSP00000333125:Q308E	Q	+	1	0	MED12	70258212	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.358000	0.52284	2.615000	0.88500	0.597000	0.82753	CAG	MED12	-	pfam_Mediator_Med12_LCEWAV		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70341487	1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70341487	C	G	70341487	3	3	107	1	0	0	0	0	1	0	0	0	9451	711	25	4	948	4	MED12	23	70341487	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	17065200	70341487	84929073	183	16024										
RGAG4	340526	genome.wustl.edu	37	chrX	71350409	71350409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	attgggactcggagcaaaagGgaagatgatatttcgaactc	12	6	0	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:71350409G>A	ENST00000545866.1	-	1	1349	c.982C>T	c.(982-984)Cct>Tct	p.P328S	RGAG4_ENST00000609883.1_Missense_Mutation_p.P328S|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	328										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGAGCAAAAGGGAAGATGATA	0.502																																																	0													93	86	89					X																	71350409		1934	4143	6077	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.982C>T	X.37:g.71350409G>A	ENSP00000441366:p.Pro328Ser		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag	p.P328S	ENST00000545866.1	37	c.982	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683515	0.68157	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12879	2.64;2.64	4.13	1.4	0.22301	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.44128	-0.9348	8	.	.	.	-3.85	5.5065	0.16856	0.374:0.0:0.626:0.0	.	328	Q5HYW3	RGAG4_HUMAN	S	328	ENSP00000441366:P328S;ENSP00000418667:P328S	.	P	-	1	0	RGAG4	71267134	0.227000	0.23707	0.002000	0.10522	0.906000	0.53458	0.327000	0.19663	0.156000	0.19299	0.600000	0.82982	CCT	RGAG4	-	NULL		0.502	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	G	NM_001024455		71350409	-1	no_errors	ENST00000479991	ensembl	human	known	70_37	missense	SNP	0.001	A	A	71350409	G	A	71350409	3	1	107	1	0	0	0	0	1	0	0	0	13305	1232	43	4	731	4	RGAG4	23	71350409	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	1008922	71350409	83920151	184	16025										
ZCCHC13	389874	genome.wustl.edu	37	chrX	73524601	73524601	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tagccaaggaatgtcccagtGaggttaccacttaaatcttc	8	10	1	1			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:73524601G>T	ENST00000339534.2	+	1	577	c.500G>T	c.(499-501)tGa>tTa	p.*167L		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	0							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATGTCCCAGTGAGGTTACCAC	0.512																																																	0													38	33	35					X																	73524601		2203	4300	6503	SO:0001578	stop_lost	389874			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"Zinc fingers, CCHC domain containing"	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.500G>T	X.37:g.73524601G>T	ENSP00000345633:p.*167Leuext*15			Nonstop_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.*167L	ENST00000339534.2	37	c.500	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690083	0.29962	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6343	0.39798	0.1065:0.0:0.8935:0.0	.	.	.	.	L	167	.	.	X	+	2	2	ZCCHC13	73441326	1.000000	0.71417	0.014000	0.15608	0.186000	0.23388	5.505000	0.66981	1.179000	0.42884	0.529000	0.55759	TGA	ZCCHC13	-	NULL		0.512	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	HGNC	protein_coding	OTTHUMT00000057260.1	G	NM_203303		73524601	1	no_errors	ENST00000339534	ensembl	human	known	70_37	nonstop	SNP	0.994	T	T	73524601	G	T	73524601	4	4	107	1	0	0	0	0	0	0	0	0	17612	1285	45	3	502	3	ZCCHC13	23	73524601	Nonstop_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	2174192	73524601	81745959	185	16026										
SRPX2	27286	genome.wustl.edu	37	chrX	99920345	99920345	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	cccaccgttggtgaaagattCtgctgatggtaccatcacca	9	12	2	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:99920345C>T	ENST00000373004.3	+	6	1066	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	213	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GTGAAAGATTCTGCTGATGGT	0.527																																																	0													99	77	85					X																	99920345		2203	4299	6502	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.638C>T	X.37:g.99920345C>T	ENSP00000362095:p.Ser213Phe		B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.S213F	ENST00000373004.3	37	c.638	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005015	0.74932	.	.	ENSG00000102359	ENST00000373004	T	0.23950	1.88	5.61	5.61	0.85477	Hyalin (2);	0.046825	0.85682	D	0.000000	T	0.28499	0.0705	L	0.40543	1.245	0.54753	D	0.999987	P	0.50943	0.94	P	0.48598	0.583	T	0.01238	-1.1409	9	.	.	.	-14.1607	12.9382	0.58327	0.0:0.9209:0.0:0.0791	.	213	O60687	SRPX2_HUMAN	F	213	ENSP00000362095:S213F	.	S	+	2	0	SRPX2	99807001	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.081000	0.76844	2.359000	0.80004	0.529000	0.55759	TCT	SRPX2	-	pfam_Hyalin,pfscan_Hyalin		0.527	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	C	NM_014467		99920345	1	no_errors	ENST00000373004	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99920345	C	T	99920345	3	4	107	1	0	0	0	0	1	0	0	0	15195	913	32	1	656	1	SRPX2	23	99920345	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	26395744	99920345	55350215	186	16027										
TRPC5	7224	genome.wustl.edu	37	chrX	111090481	111090481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	taccaggcagtagataaagaGgaatttgaggatatcaagca	11	5	1	3			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:111090481G>A	ENST00000262839.2	-	6	2479	c.1561C>T	c.(1561-1563)Ctc>Ttc	p.L521F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	521					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGATAAAGAGGAATTTGAGG	0.443																																																	0													158	142	147					X																	111090481		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1561C>T	X.37:g.111090481G>A	ENSP00000262839:p.Leu521Phe		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L521F	ENST00000262839.2	37	c.1561	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477785	0.63849	.	.	ENSG00000072315	ENST00000262839	D	0.98835	-5.17	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	N	0.26092	0.79	0.80722	D	1	P;P	0.45827	0.763;0.867	P;P	0.59643	0.582;0.861	D	0.96841	0.9618	10	0.07813	T	0.8	-11.6088	18.3004	0.90162	0.0:0.0:1.0:0.0	.	522;521	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	521	ENSP00000262839:L521F	ENSP00000262839:L521F	L	-	1	0	TRPC5	110977137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.814000	0.99346	2.261000	0.74972	0.436000	0.28706	CTC	TRPC5	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	G	NM_012471		111090481	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111090481	G	A	111090481	3	1	107	1	0	0	0	0	1	0	0	0	16613	1000	35	4	1384	4	TRPC5	23	111090481	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	11170136	111090481	44180079	187	16028										
IDS	3423	genome.wustl.edu	37	chrX	148571887	148571887	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	gatggtgctgttggccagctGaagatcgtccaaagcactca	12	10	1	2			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:148571887G>C	ENST00000340855.6	-	7	1173	c.964C>G	c.(964-966)Cag>Gag	p.Q322E	IDS_ENST00000422081.2_Missense_Mutation_p.Q111E|IDS_ENST00000537071.1_5'Flank|IDS_ENST00000541269.1_Missense_Mutation_p.Q111E|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.Q322E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	322					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTGGCCAGCTGAAGATCGTCC	0.453																																																	0													112	99	103					X																	148571887		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.964C>G	X.37:g.148571887G>C	ENSP00000339801:p.Gln322Glu		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.Q322E	ENST00000340855.6	37	c.964	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	G	4.066	0.010087	0.07912	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441	D;D;D	0.99886	-7.52;-7.52;-7.52	4.97	4.97	0.65823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.394490	0.24695	N	0.036357	D	0.99158	0.9709	N	0.25647	0.755	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.002;0.004;0.005	D	0.99988	1.3673	10	0.24483	T	0.36	.	12.3215	0.54987	0.0:0.3413:0.6586:0.0	.	322;232;322	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	E	322;111;322	ENSP00000339801:Q322E;ENSP00000441261:Q111E;ENSP00000359470:Q322E	ENSP00000339801:Q322E	Q	-	1	0	IDS	148379792	0.999000	0.42202	0.906000	0.35671	0.202000	0.24057	2.834000	0.48167	2.058000	0.61347	0.513000	0.50165	CAG	IDS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.453	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	G			148571887	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	0.987	C	C	148571887	G	C	148571887	3	2	107	1	0	0	0	0	1	0	0	0	7523	1299	45	1	730	1	IDS	23	148571887	Missense_Mutation	SNP	G	TCGA-EK-A2RC-01A-11D-A18J-09	37481406	148571887	6698673	188	16029										
CXorf40B	541578	genome.wustl.edu	37	chrX	149100845	149100845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.553191489361702	104	2.38045021859491e-39	4.06088335403852	5.39298525308888	2.94363659999629	0.0044608675170486	0.0233894134677683	78	tcctttcctaggtatgggctCcagtaaccacctggggtttg	11	11	0	0			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:149100845C>T	ENST00000370406.3	-	5	1222	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CXorf40B_ENST00000355203.2_Missense_Mutation_p.E132K|CXorf40B_ENST00000462691.1_Missense_Mutation_p.E132K|CXorf40B_ENST00000370404.1_Missense_Mutation_p.E132K|XX-FW81066F1.2_ENST00000457775.1_RNA			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	132										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGTATGGGCTCCAGTAACCAC	0.502																																																	0													151	129	137					X																	149100845		2201	4297	6498	SO:0001583	missense	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.394G>A	X.37:g.149100845C>T	ENSP00000359434:p.Glu132Lys			Missense_Mutation	SNP	superfamily_PUA-like_domain	p.E132K	ENST00000370406.3	37	c.394	CCDS35426.1	X	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001158	0.35320	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	3.22	-5.66	0.02451	PUA-like domain (1);	0.896831	0.09700	N	0.767074	D	0.89784	0.6815	M	0.66939	2.045	0.35877	D	0.828686	B	0.11235	0.004	B	0.11329	0.006	T	0.73313	-0.4022	10	0.56958	D	0.05	-17.352	15.8802	0.79197	0.0:0.5798:0.4202:0.0	.	132	Q96DE9	CX04B_HUMAN	K	132	ENSP00000417546:E132K;ENSP00000359434:E132K;ENSP00000347339:E132K;ENSP00000359432:E132K	ENSP00000347339:E132K	E	-	1	0	CXorf40B	148851503	0.995000	0.38212	0.182000	0.23118	0.829000	0.46940	0.512000	0.22755	-0.903000	0.03881	0.292000	0.19580	GAG	CXorf40B	-	superfamily_PUA-like_domain		0.502	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40B	HGNC	protein_coding	OTTHUMT00000082896.2	C	NP_001013867		149100845	-1	no_errors	ENST00000355203	ensembl	human	known	70_37	missense	SNP	0.781	T	T	149100845	C	T	149100845	3	4	107	1	0	0	0	0	1	0	0	0	4114	864	30	1	86	1	CXorf40B	23	149100845	Missense_Mutation	SNP	C	TCGA-EK-A2RC-01A-11D-A18J-09	528958	149100845	6169715	189	16030										
CCNL2	81669	genome.wustl.edu	37	chr1	1333624	1333624	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctgactcactttttgtctctCagctgtcgaaggcggtgaaa	10	10	3	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:1333624C>G	ENST00000400809.3	-	3	467	c.462G>C	c.(460-462)ctG>ctC	p.L154L	CCNL2_ENST00000408918.4_Silent_p.L154L|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'UTR|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	154	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTTGTCTCTCAGCTGTCGAA	0.443																																																	0													184	158	166					1																	1333624		2203	4300	6503	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.462G>C	1.37:g.1333624C>G			A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	NULL	p.E165Q	ENST00000400809.3	37	c.493	CCDS30557.1	1																																																																																			CCNL2	-	NULL		0.443	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	C	NM_030937		1333624	-1	no_errors	ENST00000425598	ensembl	human	known	70_37	missense	SNP	0.152	G	G	1333624	C	G	1333624	2	3	108	1	0	0	0	0	0	0	0	1	2937	813	29	1		1	CCNL2	1	1333624	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		1333624	247916997	1	16031										
BSDC1	55108	genome.wustl.edu	37	chr1	32842233	32842233	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcaactgaagtcaccagattCtcttcacaggggctctgggg	11	11	5	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:32842233C>T	ENST00000455895.2	-	9	819	c.786G>A	c.(784-786)gaG>gaA	p.E262E	BSDC1_ENST00000413080.1_Silent_p.E201E|BSDC1_ENST00000419121.2_Silent_p.E206E|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000526031.1_Silent_p.E167E|BSDC1_ENST00000449308.1_Silent_p.E262E|BSDC1_ENST00000446293.2_Silent_p.E279E|BSDC1_ENST00000341071.7_Silent_p.E279E	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	262										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCACCAGATTCTCTTCACAGG	0.547																																																	0													90	95	93					1																	32842233		2203	4300	6503	SO:0001819	synonymous_variant	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.786G>A	1.37:g.32842233C>T			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.E279	ENST00000455895.2	37	c.837	CCDS363.2	1																																																																																			BSDC1	-	NULL		0.547	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	C	NM_018045		32842233	-1	no_errors	ENST00000341071	ensembl	human	known	70_37	silent	SNP	0.194	T	T	32842233	C	T	32842233	2	4	108	1	0	0	0	0	0	0	0	1	1531	912	32	1		1	BSDC1	1	32842233	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	31508609	32842233	216408388	2	16032										
KIAA1522	57648	genome.wustl.edu	37	chr1	33234342	33234342	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agctccacagcagaggacgcGctctccatccgctcggagat	11	15	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:33234342G>T	ENST00000373480.1	+	4	478	c.375G>T	c.(373-375)gcG>gcT	p.A125A	KIAA1522_ENST00000373481.3_Silent_p.A136A|KIAA1522_ENST00000401073.2_Silent_p.A184A|KIAA1522_ENST00000294521.3_Silent_p.A125A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	125										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGAGGACGCGCTCTCCATCC	0.582																																																	0													40	41	41					1																	33234342		2020	4201	6221	SO:0001819	synonymous_variant	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.375G>T	1.37:g.33234342G>T			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	NULL	p.A184	ENST00000373480.1	37	c.552	CCDS55588.1	1																																																																																			KIAA1522	-	NULL		0.582	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	G			33234342	1	no_errors	ENST00000401073	ensembl	human	known	70_37	silent	SNP	0.345	T	T	33234342	G	T	33234342	2	4	108	1	0	0	0	0	0	0	0	1	8258	1074	38	2		2	KIAA1522	1	33234342	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	392109	33234342	216016279	3	16033										
ORC1L	4998	genome.wustl.edu	37	chr1	52854276	52854276	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gctgctggcagaatctctttCtcttcttggtcacttttact	7	11	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:52854276C>T	ENST00000371568.3	-	8	1439	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	ORC1_ENST00000371566.1_Silent_p.E407E	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	407					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAATCTCTTTCTCTTCTTGGT	0.428																																																	0													170	161	164					1																	52854276		2203	4300	6503	SO:0001819	synonymous_variant	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1221G>A	1.37:g.52854276C>T			D3DQ34|Q13471|Q5T0F5	Silent	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.E407	ENST00000371568.3	37	c.1221	CCDS566.1	1																																																																																			ORC1	-	NULL		0.428	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	C	NM_004153		52854276	-1	no_errors	ENST00000371566	ensembl	human	known	70_37	silent	SNP	0.662	T	T	52854276	C	T	52854276	2	4	108	1	0	0	0	0	0	0	0	1	11285	912	32	1		1	ORC1L	1	52854276	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	19619934	52854276	196396345	4	16034										
JUN	3725	genome.wustl.edu	37	chr1	59248525	59248525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcaggcgctccagctcgggcGacgccagcttgagcagcccc	13	17	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:59248525G>A	ENST00000371222.2	-	1	1260	c.218C>T	c.(217-219)tCg>tTg	p.S73L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	73					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CAGCTCGGGCGACGCCAGCTT	0.662			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													71	81	78					1																	59248525		2203	4299	6502	SO:0001583	missense	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.218C>T	1.37:g.59248525G>A	ENSP00000360266:p.Ser73Leu		Q6FHM7|Q96G93	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.S73L	ENST00000371222.2	37	c.218	CCDS610.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865256	0.91511	.	.	ENSG00000177606	ENST00000371222	T	0.45276	0.9	4.39	4.39	0.52855	Jun-like transcription factor (1);	0.000000	0.64402	U	0.000001	T	0.70395	0.3219	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78489	-0.2184	10	0.87932	D	0	-8.9291	17.1679	0.86821	0.0:0.0:1.0:0.0	.	73	P05412	JUN_HUMAN	L	73	ENSP00000360266:S73L	ENSP00000360266:S73L	S	-	2	0	JUN	59021113	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.204000	0.95041	2.255000	0.74692	0.561000	0.74099	TCG	JUN	-	pfam_JNK		0.662	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1	G	NM_002228		59248525	-1	no_errors	ENST00000371222	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59248525	G	A	59248525	3	1	108	1	0	0	0	0	1	0	0	0	7989	1059	37	1	781	1	JUN	1	59248525	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	6394249	59248525	190002096	5	16035										
WDR3	10885	genome.wustl.edu	37	chr1	118486093	118486093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gcagaacaacctggtggaatTgtattcactgaatccatcct	8	10	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:118486093T>C	ENST00000349139.5	+	11	1219	c.1172T>C	c.(1171-1173)tTg>tCg	p.L391S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	391						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTGGTGGAATTGTATTCACTG	0.453																																																	0													136	110	119					1																	118486093		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1172T>C	1.37:g.118486093T>C	ENSP00000308179:p.Leu391Ser			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L391S	ENST00000349139.5	37	c.1172	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	T	8.625	0.892385	0.17613	.	.	ENSG00000065183	ENST00000349139	T	0.54675	0.56	5.55	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.361340	0.30492	N	0.009515	T	0.26846	0.0657	M	0.67397	2.05	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.41790	T	0.15	-4.921	5.3934	0.16257	0.0:0.1566:0.1473:0.6961	.	391	Q9UNX4	WDR3_HUMAN	S	391	ENSP00000308179:L391S	ENSP00000308179:L391S	L	+	2	0	WDR3	118287616	0.175000	0.23083	0.001000	0.08648	0.290000	0.27261	1.954000	0.40362	1.013000	0.39391	0.533000	0.62120	TTG	WDR3	-	pfscan_WD40_repeat_dom		0.453	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	T	NM_006784		118486093	1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	0.001	C	C	118486093	T	C	118486093	3	2	108	1	0	0	0	0	1	0	0	0	17316	1821	63	5	1210	5	WDR3	1	118486093	Missense_Mutation	SNP	T	TCGA-EK-A2RD-01A-12D-A20U-09	59237568	118486093	130764528	6	16036										
CD1E	913	genome.wustl.edu	37	chr1	158325178	158325178	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tatcaagggtcagatttcctGagtttccaaggaatttcctg	9	8	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:158325178G>C	ENST00000368167.3	+	3	683	c.444G>C	c.(442-444)ctG>ctC	p.L148L	CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000444681.2_Silent_p.L49L|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.L146L|CD1E_ENST00000368163.3_Silent_p.L148L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.L148L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Silent_p.L148L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	148					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAGATTTCCTGAGTTTCCAAG	0.463																																																	0													101	98	99					1																	158325178		1836	4093	5929	SO:0001819	synonymous_variant	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.444G>C	1.37:g.158325178G>C			B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L148	ENST00000368167.3	37	c.444	CCDS41417.1	1																																																																																			CD1E	-	superfamily_MHC_I/II-like_Ag-recog		0.463	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	G	NM_030893		158325178	1	no_errors	ENST00000368167	ensembl	human	known	70_37	silent	SNP	1.000	C	C	158325178	G	C	158325178	2	2	108	1	0	0	0	0	0	0	0	1	2983	1277	45	1		1	CD1E	1	158325178	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	39839085	158325178	90925443	7	16037										
SLAMF1	6504	genome.wustl.edu	37	chr1	160582348	160582348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aagggtcctgagctgggaagGagtcaagtttcttctgaaga	14	6	3	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:160582348G>C	ENST00000302035.6	-	6	1236	c.887C>G	c.(886-888)tCc>tGc	p.S296C	SLAMF1_ENST00000538290.1_3'UTR|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S266C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	296					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGCTGGGAAGGAGTCAAGTTT	0.507																																																	0													61	58	59					1																	160582348		2203	4300	6503	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.887C>G	1.37:g.160582348G>C	ENSP00000306190:p.Ser296Cys		Q5W172|Q9HBE8	Missense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.S296C	ENST00000302035.6	37	c.887	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089554	0.55968	.	.	ENSG00000117090	ENST00000302035;ENST00000235739	T;T	0.41065	1.01;1.01	4.21	2.12	0.27331	.	0.976410	0.08408	N	0.950423	T	0.15349	0.0370	L	0.44542	1.39	0.09310	N	0.999999	P	0.39624	0.681	B	0.36289	0.221	T	0.21655	-1.0239	10	0.59425	D	0.04	-0.2082	4.8536	0.13549	0.1346:0.21:0.6554:0.0	.	296	Q13291	SLAF1_HUMAN	C	296;266	ENSP00000306190:S296C;ENSP00000235739:S266C	ENSP00000235739:S266C	S	-	2	0	SLAMF1	158848972	0.006000	0.16342	0.000000	0.03702	0.599000	0.36880	0.508000	0.22692	0.595000	0.29777	0.655000	0.94253	TCC	SLAMF1	-	NULL		0.507	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	G			160582348	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	missense	SNP	0.000	C	C	160582348	G	C	160582348	3	2	108	1	0	0	0	0	1	0	0	0	14397	1174	41	1	128	1	SLAMF1	1	160582348	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	2257170	160582348	88668273	8	16038										
RGS4	5999	genome.wustl.edu	37	chr1	163042594	163042594	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtttctctctattttttctaGagtgagccaagaggaagtca	9	7	4	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:163042594G>C	ENST00000367909.6	+	3	489		c.e3-1		RGS4_ENST00000367906.3_Splice_Site|RGS4_ENST00000367908.4_Splice_Site|RGS4_ENST00000527809.1_Splice_Site|RGS4_ENST00000531057.1_Splice_Site|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_Splice_Site	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						ATTTTTTCTAGAGTGAGCCAA	0.383																																					Ovarian(76;1257 1738 3039 6086)												0													62	60	61					1																	163042594		2203	4300	6503	SO:0001630	splice_region_variant	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.150-1G>C	1.37:g.163042594G>C			A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Splice_Site	SNP	-	e4-1	ENST00000367909.6	37	c.441-1	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560316	0.13498	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367908;ENST00000367906;ENST00000528938	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1682	0.65490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS4	161309218	1.000000	0.71417	0.944000	0.38274	0.071000	0.16799	5.551000	0.67274	2.162000	0.67917	0.655000	0.94253	.	RGS4	-	-		0.383	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	G	NM_005613	Intron	163042594	1	no_errors	ENST00000421743	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	163042594	G	C	163042594	5	2	108	1	0	0	0	0	0	0	1	0	13337	956	33	1	454	1	RGS4	1	163042594	Splice_Site	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	2460246	163042594	86208027	9	16039										
C1orf106	55765	genome.wustl.edu	37	chr1	200880636	200880636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtcgcagcgcctttccccgcCgccgccccactcactacacg	8	22	1	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:200880636C>T	ENST00000367342.4	+	9	1470	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R339C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTTCCCCGCCGCCGCCCCAC	0.657																																																	0													93	119	110					1																	200880636		2203	4299	6502	SO:0001583	missense	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1270C>T	1.37:g.200880636C>T	ENSP00000356311:p.Arg424Cys		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	pfam_DUF3338	p.R424C	ENST00000367342.4	37	c.1270		1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491871	0.84962	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.62105	0.05;0.1	4.88	4.88	0.63580	.	0.428825	0.23178	N	0.051052	T	0.69296	0.3095	L	0.29908	0.895	0.49299	D	0.999775	D	0.89917	1.0	D	0.80764	0.994	T	0.72261	-0.4345	10	0.62326	D	0.03	-14.8916	15.0201	0.71624	0.0:1.0:0.0:0.0	.	424	Q3KP66	CA106_HUMAN	C	424;339	ENSP00000356311:R424C;ENSP00000392105:R339C	ENSP00000356311:R424C	R	+	1	0	C1orf106	199147259	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	1.772000	0.38552	2.268000	0.75426	0.549000	0.68633	CGC	C1orf106	-	NULL		0.657	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	C	NM_018265		200880636	1	no_errors	ENST00000367342	ensembl	human	known	70_37	missense	SNP	1.000	T	T	200880636	C	T	200880636	3	4	108	1	0	0	0	0	1	0	0	0	1985	652	23	2	1304	2	C1orf106	1	200880636	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	37838042	200880636	48369985	10	16040										
CHI3L1	1116	genome.wustl.edu	37	chr1	203148611	203148611	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atccttgatggcattggtgaGagggaagcgcagatcctggc	15	8	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:203148611G>A	ENST00000255409.3	-	10	1239	c.1114C>T	c.(1114-1116)Ctc>Ttc	p.L372F		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	372					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GCATTGGTGAGAGGGAAGCGC	0.637																																																	0													63	66	65					1																	203148611		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.1114C>T	1.37:g.203148611G>A	ENSP00000255409:p.Leu372Phe		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L372F	ENST00000255409.3	37	c.1114	CCDS1435.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.052573|4.052573	0.75960|0.75960	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.37235|.	1.21|.	4.54|4.54	4.54|4.54	0.55810|0.55810	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.40469|.	N|.	0.001086|.	D|D	0.86602|0.86602	0.5972|0.5972	H|H	0.95539|0.95539	3.685|3.685	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.90777|0.90777	0.4676|0.4676	10|5	0.87932|.	D|.	0|.	-19.1542|-19.1542	14.7756|14.7756	0.69729|0.69729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	372|.	P36222|.	CH3L1_HUMAN|.	F|F	372|140	ENSP00000255409:L372F|.	ENSP00000255409:L372F|.	L|S	-|-	1|2	0|0	CHI3L1|CHI3L1	201415234|201415234	1.000000|1.000000	0.71417|0.71417	0.606000|0.606000	0.28943|0.28943	0.715000|0.715000	0.41141|0.41141	5.282000|5.282000	0.65615|0.65615	2.079000|2.079000	0.62486|0.62486	0.491000|0.491000	0.48974|0.48974	CTC|TCT	CHI3L1	-	superfamily_Glycoside_hydrolase_SF		0.637	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	G	NM_001276		203148611	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	0.986	A	A	203148611	G	A	203148611	3	1	108	1	0	0	0	0	1	0	0	0	3345	942	33	1	41	1	CHI3L1	1	203148611	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	2267975	203148611	46102010	11	16041										
ATP2B4	493	genome.wustl.edu	37	chr1	203696628	203696628	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccgagggactggatgagattGaccatgctgagatggagctg	16	7	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:203696628G>C	ENST00000357681.5	+	20	4361	c.3238G>C	c.(3238-3240)Gac>Cac	p.D1080H	SNORA77_ENST00000408716.1_RNA|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D1068H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D1044H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D1080H|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D1080H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1080					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGATGAGATTGACCATGCTGA	0.572																																																	0													162	149	154					1																	203696628		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3238G>C	1.37:g.203696628G>C	ENSP00000350310:p.Asp1080His		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D1080H	ENST00000357681.5	37	c.3238	CCDS1440.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.027773|4.027773	0.75390|0.75390	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360|ENST00000458092;ENST00000356729	D;D;D;D;D|.	0.95171|.	-3.26;-3.3;-3.31;-3.63;-3.3|.	5.76|5.76	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.52532|.	D|.	0.000067|.	T|T	0.77025|0.77025	0.4070|0.4070	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.937;0.996|.	T|T	0.79480|0.79480	-0.1786|-0.1786	10|5	0.87932|.	D|.	0|.	-34.3202|-34.3202	14.5601|14.5601	0.68130|0.68130	0.0707:0.0:0.9293:0.0|0.0707:0.0:0.9293:0.0	.|.	1080;1080;1080|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	H|F	1080;1080;1068;1044;1080|66;44	ENSP00000350310:D1080H;ENSP00000356187:D1080H;ENSP00000356188:D1068H;ENSP00000375816:D1044H;ENSP00000340930:D1080H|.	ENSP00000340930:D1080H|.	D|L	+|+	1|3	0|2	ATP2B4|ATP2B4	201963251|201963251	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.555000|0.555000	0.35460|0.35460	9.863000|9.863000	0.99569|0.99569	1.441000|1.441000	0.47550|0.47550	0.555000|0.555000	0.69702|0.69702	GAC|TTG	ATP2B4	-	NULL		0.572	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	G	NM_001001396		203696628	1	no_errors	ENST00000357681	ensembl	human	known	70_37	missense	SNP	1.000	C	C	203696628	G	C	203696628	3	2	108	1	0	0	0	0	1	0	0	0	1143	1290	45	1	3312	1	ATP2B4	1	203696628	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	548017	203696628	45553993	12	16042										
SLC41A1	254428	genome.wustl.edu	37	chr1	205767910	205767910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctgggttgatcccaatcttgCgagagccaatgatgactcca	10	11	1	4	rs373421823		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:205767910C>T	ENST00000367137.3	-	6	1745	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	244					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCCAATCTTGCGAGAGCCAAT	0.547																																																	0								C	HIS/ARG	0,4406		0,0,2203	101	96	97		731	5.7	1	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC41A1	NM_173854.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	244/514	205767910	1,13005	2203	4300	6503	SO:0001583	missense	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.731G>A	1.37:g.205767910C>T	ENSP00000356105:p.Arg244His		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr	p.R244H	ENST00000367137.3	37	c.731	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790887	0.90367	0.0	1.16E-4	ENSG00000133065	ENST00000367137	T	0.30714	1.52	5.71	5.71	0.89125	MgtE magnesium transporter, integral membrane (1);	0.044183	0.85682	D	0.000000	T	0.37404	0.1002	M	0.64567	1.98	0.58432	D	0.999999	P	0.34815	0.47	B	0.42163	0.378	T	0.07501	-1.0769	10	0.27785	T	0.31	0.8534	12.7691	0.57410	0.0:0.9241:0.0:0.0759	.	244	Q8IVJ1	S41A1_HUMAN	H	244	ENSP00000356105:R244H	ENSP00000356105:R244H	R	-	2	0	SLC41A1	204034533	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.672000	0.61597	2.704000	0.92352	0.655000	0.94253	CGC	SLC41A1	-	pfam_MgtE_Mg_transptr_membr		0.547	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	C			205767910	-1	no_errors	ENST00000367137	ensembl	human	known	70_37	missense	SNP	1.000	T	T	205767910	C	T	205767910	3	4	108	1	0	0	0	0	1	0	0	0	14659	768	27	2	834	2	SLC41A1	1	205767910	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	2071282	205767910	43482711	13	16043										
C1orf96	126731	genome.wustl.edu	37	chr1	229462517	229462517	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agcggacgcacagacgttgtGagtcttctggcttcctgtat	12	10	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:229462517G>A	ENST00000366687.1	-	2	655	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	CCSAP_ENST00000284617.2_Missense_Mutation_p.H202Y|CCSAP_ENST00000366686.1_Missense_Mutation_p.H88Y|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	202					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CAGACGTTGTGAGTCTTCTGG	0.517																																																	0													216	179	191					1																	229462517		2203	4300	6503	SO:0001583	missense	126731			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"centriole and spindle-associated protein"		"chromosome 1 open reading frame 96"	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.604C>T	1.37:g.229462517G>A	ENSP00000355648:p.His202Tyr		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	NULL	p.H202Y	ENST00000366687.1	37	c.604	CCDS1577.1	1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821325	0.71028	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.59364	0.27;0.27;0.37	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.77236	-0.2662	10	0.87932	D	0	-35.4761	18.0216	0.89257	0.0:0.0:1.0:0.0	.	202	Q6IQ19	CA096_HUMAN	Y	202;202;88	ENSP00000355648:H202Y;ENSP00000284617:H202Y;ENSP00000355647:H88Y	ENSP00000284617:H202Y	H	-	1	0	C1orf96	227529140	1.000000	0.71417	0.988000	0.46212	0.445000	0.32107	7.209000	0.77916	2.683000	0.91414	0.655000	0.94253	CAC	CCSAP	-	NULL		0.517	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	G	NM_145257		229462517	-1	no_errors	ENST00000284617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	229462517	G	A	229462517	3	1	108	1	0	0	0	0	1	0	0	0	2078	1290	45	1	216	1	C1orf96	1	229462517	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	23694607	229462517	19788104	14	16044										
TAF5L	27097	genome.wustl.edu	37	chr1	229730226	229730226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gacgcgcaccgagttgtccaTggaggcagaggcaatcaagc	14	11	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:229730226T>C	ENST00000366676.1	-	4	1587	c.1588A>G	c.(1588-1590)Atg>Gtg	p.M530V	TAF5L_ENST00000258281.2_Missense_Mutation_p.M530V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	530					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGTTGTCCATGGAGGCAGAG	0.582																																																	0													77	71	73					1																	229730226		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1588A>G	1.37:g.229730226T>C	ENSP00000355636:p.Met530Val		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M530V	ENST00000366676.1	37	c.1588	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504355	0.44558	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.59906	0.23;0.23	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.033205	0.85682	D	0.000000	T	0.46870	0.1415	L	0.31294	0.92	0.53005	D	0.999967	B	0.18610	0.029	B	0.21151	0.033	T	0.37619	-0.9698	10	0.17369	T	0.5	-38.4172	16.4473	0.83942	0.0:0.0:0.0:1.0	.	530	O75529	TAF5L_HUMAN	V	530	ENSP00000355636:M530V;ENSP00000258281:M530V	ENSP00000258281:M530V	M	-	1	0	TAF5L	227796849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.979000	0.56888	2.281000	0.76405	0.533000	0.62120	ATG	TAF5L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.582	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	T	NM_014409		229730226	-1	no_errors	ENST00000258281	ensembl	human	known	70_37	missense	SNP	1.000	C	C	229730226	T	C	229730226	3	2	108	1	0	0	0	0	1	0	0	0	15559	1464	51	5	185	5	TAF5L	1	229730226	Missense_Mutation	SNP	T	TCGA-EK-A2RD-01A-12D-A20U-09	267709	229730226	19520395	15	16045										
AHCTF1	25909	genome.wustl.edu	37	chr1	247016504	247016504	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcatgatcttcttttaagttCagcgctacttcctggttaag	7	9	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr1:247016504C>T	ENST00000391829.2	-	32	4575	c.4452G>A	c.(4450-4452)ctG>ctA	p.L1484L	AHCTF1_ENST00000366508.1_Silent_p.L1519L|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.L1493L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1484	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTTTAAGTTCAGCGCTACTT	0.448																																					Colon(145;197 1800 4745 15099 26333)												0													36	35	35					1																	247016504		2203	4296	6499	SO:0001819	synonymous_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4452G>A	1.37:g.247016504C>T			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.L1493	ENST00000391829.2	37	c.4479		1																																																																																			AHCTF1	-	NULL		0.448	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247016504	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	silent	SNP	0.000	T	T	247016504	C	T	247016504	2	4	108	1	0	0	0	0	0	0	0	1	408	813	29	1		1	AHCTF1	1	247016504	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	17286278	247016504	2234117	16	16046										
TTC15	51112	genome.wustl.edu	37	chr2	3391549	3391549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cgaagagaacgagaccgcatCggaaggctcgagtcctctcg	13	12	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:3391549C>T	ENST00000324266.5	+	2	350	c.155C>T	c.(154-156)tCg>tTg	p.S52L	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.S52L	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	52					vesicle-mediated transport (GO:0016192)												GAGACCGCATCGGAAGGCTCG	0.612																																																	0													55	47	50					2																	3391549		2203	4300	6503	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.155C>T	2.37:g.3391549C>T	ENSP00000324318:p.Ser52Leu		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S52L	ENST00000324266.5	37	c.155	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632568	0.47049	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.56941	0.43;0.43	5.0	5.0	0.66597	.	0.255560	0.34002	N	0.004360	T	0.67335	0.2882	L	0.52573	1.65	0.51482	D	0.999924	D;P;D	0.89917	1.0;0.935;1.0	D;B;D	0.91635	0.994;0.222;0.999	T	0.69397	-0.5156	10	0.72032	D	0.01	.	15.5858	0.76482	0.0:1.0:0.0:0.0	.	35;52;52	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	L	52;35;52	ENSP00000371544:S52L;ENSP00000324318:S52L	ENSP00000303612:S35L	S	+	2	0	TTC15	3370556	1.000000	0.71417	0.243000	0.24186	0.011000	0.07611	5.405000	0.66351	2.588000	0.87417	0.563000	0.77884	TCG	TRAPPC12	-	NULL		0.612	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	C	NM_016030		3391549	1	no_errors	ENST00000324266	ensembl	human	known	70_37	missense	SNP	0.999	T	T	3391549	C	T	3391549	3	4	108	1	0	0	0	0	1	0	0	0	16713	893	31	1	157	1	TTC15	2	3391549	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		3391549	239807824	17	16047										
SOX11	6664	genome.wustl.edu	37	chr2	5833654	5833654	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cagcagccgtcgcagctgctGagacgctacaacgtcgccaa	11	15	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:5833654G>A	ENST00000322002.3	+	1	856	c.801G>A	c.(799-801)ctG>ctA	p.L267L	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	267					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CGCAGCTGCTGAGACGCTACA	0.697																																																	0													8	7	8					2																	5833654		1978	4004	5982	SO:0001819	synonymous_variant	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.801G>A	2.37:g.5833654G>A			Q4ZFV8	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.L267	ENST00000322002.3	37	c.801	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a		0.697	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	G	NM_003108		5833654	1	no_errors	ENST00000322002	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5833654	G	A	5833654	2	1	108	1	0	0	0	0	0	0	0	1	14972	1277	45	1		1	SOX11	2	5833654	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	2442105	5833654	237365719	18	16048										
PUM2	23369	genome.wustl.edu	37	chr2	20453700	20453700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gcactgtgaggaccatcattCtggcagcaaacctcgtcaat	9	12	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:20453700C>G	ENST00000361078.2	-	19	2974	c.2952G>C	c.(2950-2952)caG>caC	p.Q984H	PUM2_ENST00000319801.5_Missense_Mutation_p.Q905H|PUM2_ENST00000338086.5_Missense_Mutation_p.Q982H|PUM2_ENST00000403432.1_Missense_Mutation_p.Q982H|PUM2_ENST00000536417.1_Missense_Mutation_p.Q926H			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	984	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCATCATTCTGGCAGCAAA	0.418																																																	0													188	163	172					2																	20453700		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2952G>C	2.37:g.20453700C>G	ENSP00000354370:p.Gln984His		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q984H	ENST00000361078.2	37	c.2952		2	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302620	0.23736	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	N	0.16708	0.43	0.80722	D	1	B;P;B;P	0.46327	0.006;0.687;0.396;0.876	B;B;B;B	0.31016	0.002;0.021;0.021;0.123	T	0.39840	-0.9594	10	0.14656	T	0.56	-2.9054	19.1508	0.93487	0.0:1.0:0.0:0.0	.	926;903;982;984	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	H	982;984;905;794;982;926	ENSP00000338173:Q982H;ENSP00000354370:Q984H;ENSP00000326746:Q905H;ENSP00000409905:Q794H;ENSP00000385992:Q982H;ENSP00000440093:Q926H	ENSP00000326746:Q905H	Q	-	3	2	PUM2	20317181	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	6.052000	0.71080	2.519000	0.84933	0.655000	0.94253	CAG	PUM2	-	superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt		0.418	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		C	NM_015317		20453700	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20453700	C	G	20453700	3	3	108	1	0	0	0	0	1	0	0	0	12856	912	32	1	256	1	PUM2	2	20453700	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	14620046	20453700	222745673	19	16049										
EIF2B4	8890	genome.wustl.edu	37	chr2	27590059	27590059	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atcaatggctgctcgaagttCtgacttggcctaaatggagt	11	8	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:27590059C>G	ENST00000347454.4	-	10	1066	c.895G>C	c.(895-897)Gaa>Caa	p.E299Q	AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.E319Q|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E298Q|EIF2B4_ENST00000493344.2_Missense_Mutation_p.E320Q	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	299					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCGAAGTTCTGACTTGGCC	0.423																																																	0													157	139	145					2																	27590059		2203	4300	6503	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.895G>C	2.37:g.27590059C>G	ENSP00000233552:p.Glu299Gln		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	pfam_IF-2B-related	p.E299Q	ENST00000347454.4	37	c.895	CCDS33164.1	2	.	.	.	.	.	.	.	.	.	.	C	3.671	-0.067569	0.07273	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.97	4.11	0.48088	.	0.286130	0.45126	N	0.000392	T	0.79782	0.4505	N	0.11698	0.16	0.32475	N	0.542236	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.003;0.005;0.003	T	0.71537	-0.4563	10	0.12430	T	0.62	-10.1866	4.6702	0.12685	0.2742:0.5194:0.1335:0.0728	.	296;298;299;319	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	Q	299;296;298;319;320	ENSP00000233552:E299Q;ENSP00000394397:E298Q;ENSP00000394869:E319Q;ENSP00000429323:E320Q	ENSP00000233552:E299Q	E	-	1	0	EIF2B4	27443563	0.990000	0.36364	1.000000	0.80357	0.682000	0.39822	2.513000	0.45494	1.526000	0.49068	0.655000	0.94253	GAA	EIF2B4	-	pfam_IF-2B-related		0.423	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2B4	HGNC	protein_coding	OTTHUMT00000324448.1	C			27590059	-1	no_errors	ENST00000347454	ensembl	human	known	70_37	missense	SNP	0.888	G	G	27590059	C	G	27590059	3	3	108	1	0	0	0	0	1	0	0	0	5013	922	32	1	692	1	EIF2B4	2	27590059	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	7136359	27590059	215609314	20	16050										
STRN	6801	genome.wustl.edu	37	chr2	37082431	37082431	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atgcttgtatatcccttgctGaatgatgctaccatatggct	8	9	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:37082431G>A	ENST00000263918.4	-	15	1910	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	STRN_ENST00000379213.2_Silent_p.F585F	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	634					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATCCCTTGCTGAATGATGCTA	0.378																																																	0													175	149	157					2																	37082431		2203	4300	6503	SO:0001819	synonymous_variant	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1902C>T	2.37:g.37082431G>A			Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F634	ENST00000263918.4	37	c.1902	CCDS1784.1	2																																																																																			STRN	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.378	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	G			37082431	-1	no_errors	ENST00000263918	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37082431	G	A	37082431	2	1	108	1	0	0	0	0	0	0	0	1	15359	1281	45	1		1	STRN	2	37082431	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	9492372	37082431	206116942	21	16051										
PPM1B	5495	genome.wustl.edu	37	chr2	44428556	44428556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agtggcaaattactgctcaaCacatttattagaacacatca	5	9	2	1	rs202053989		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:44428556C>T	ENST00000282412.4	+	2	630	c.218C>T	c.(217-219)aCa>aTa	p.T73I	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.T73I|PPM1B_ENST00000409432.3_Missense_Mutation_p.T73I|PPM1B_ENST00000378551.2_Missense_Mutation_p.T73I	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	73					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACTGCTCAACACATTTATTA	0.423																																																	0													163	147	153					2																	44428556		2203	4300	6503	SO:0001583	missense	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.218C>T	2.37:g.44428556C>T	ENSP00000282412:p.Thr73Ile		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like	p.T73I	ENST00000282412.4	37	c.218	CCDS1817.1	2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495477	0.44352	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94;2.94	5.82	5.82	0.92795	Protein phosphatase 2C-like (5);	0.536331	0.22835	N	0.055054	T	0.13543	0.0328	L	0.31926	0.97	0.37087	D	0.899257	B;B;B;B;B	0.29612	0.251;0.001;0.116;0.017;0.058	B;B;B;B;B	0.37346	0.247;0.013;0.077;0.077;0.077	T	0.10730	-1.0617	10	0.52906	T	0.07	-4.509	15.665	0.77221	0.1377:0.8623:0.0:0.0	.	73;73;73;73;73	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	I	73	ENSP00000390087:T73I;ENSP00000387341:T73I;ENSP00000387287:T73I;ENSP00000282412:T73I;ENSP00000367813:T73I;ENSP00000386982:T73I	ENSP00000282412:T73I	T	+	2	0	PPM1B	44282060	0.287000	0.24315	0.991000	0.47740	0.976000	0.68499	4.024000	0.57218	2.752000	0.94435	0.655000	0.94253	ACA	PPM1B	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.423	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	HGNC	protein_coding	OTTHUMT00000250672.1	C	NM_002706		44428556	1	no_errors	ENST00000282412	ensembl	human	known	70_37	missense	SNP	0.954	T	T	44428556	C	T	44428556	3	4	108	1	0	0	0	0	1	0	0	0	12363	478	17	4	220	4	PPM1B	2	44428556	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	7346125	44428556	198770817	22	16052										
C2orf73	129852	genome.wustl.edu	37	chr2	54587431	54587431	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	attactgaacactccagggtCacgttcatcagaacagtcca	7	12	3	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:54587431C>G	ENST00000398634.2	+	5	638	c.596C>G	c.(595-597)tCa>tGa	p.S199*	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	199										breast(2)	2						ACTCCAGGGTCACGTTCATCA	0.453																																																	0													49	47	48					2																	54587431		1916	4115	6031	SO:0001587	stop_gained	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.596C>G	2.37:g.54587431C>G	ENSP00000381631:p.Ser199*		A0AV79|A0AV81|Q8N7V4	Nonsense_Mutation	SNP	NULL	p.S199*	ENST00000398634.2	37	c.596	CCDS46285.1	2	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830543	0.50845	.	.	ENSG00000177994	ENST00000486488;ENST00000398634;ENST00000447328	.	.	.	5.35	3.43	0.39272	.	0.528673	0.17166	N	0.184462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.6652	10.0362	0.42131	0.1372:0.7908:0.0:0.072	.	.	.	.	X	205;199;141	.	ENSP00000381631:S199X	S	+	2	0	C2orf73	54440935	0.303000	0.24463	0.291000	0.24904	0.960000	0.62799	1.239000	0.32719	1.394000	0.46624	0.650000	0.86243	TCA	C2orf73	-	NULL		0.453	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	C	NM_001100396		54587431	1	no_errors	ENST00000398634	ensembl	human	known	70_37	nonsense	SNP	0.031	G	G	54587431	C	G	54587431	4	3	108	1	0	0	0	0	0	1	0	0	2197	838	29	1	614	1	C2orf73	2	54587431	Nonsense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	10158875	54587431	188611942	23	16053										
MRPL53	116540	genome.wustl.edu	37	chr2	74699582	74699582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cggaccttctcactgctcacCgtctgcaggaaggtcctacg	10	15	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:74699582C>A	ENST00000258105.7	-	2	769	c.108G>T	c.(106-108)acG>acT	p.T36T	MRPL53_ENST00000409710.1_Intron	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	36						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CACTGCTCACCGTCTGCAGGA	0.602																																																	0													55	47	49					2																	74699582		2203	4300	6503	SO:0001819	synonymous_variant	116540			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"Mitochondrial ribosomal proteins / large subunits"	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.108G>T	2.37:g.74699582C>A				Silent	SNP	pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold	p.T36	ENST00000258105.7	37	c.108	CCDS1944.1	2																																																																																			MRPL53	-	pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold		0.602	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL53	HGNC	protein_coding	OTTHUMT00000252225.2	C	NM_053050		74699582	-1	no_errors	ENST00000258105	ensembl	human	known	70_37	silent	SNP	0.855	A	A	74699582	C	A	74699582	2	1	108	1	0	0	0	0	0	0	0	1	9840	639	23	2		2	MRPL53	2	74699582	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	20112151	74699582	168499791	24	16054										
CD8A	925	genome.wustl.edu	37	chr2	87016475	87016475	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agtaaagggtgataaccagtGacaggagaaggaccccacaa	12	8	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:87016475G>A	ENST00000409511.2	-	7	1626	c.596C>T	c.(595-597)tCa>tTa	p.S199L	CD8A_ENST00000409781.1_Missense_Mutation_p.S162L|CD8A_ENST00000538832.1_Missense_Mutation_p.S240L|CD8A_ENST00000283635.3_Missense_Mutation_p.S199L|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000352580.3_Intron	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	199					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GATAACCAGTGACAGGAGAAG	0.617																																																	0													85	88	87					2																	87016475		2203	4300	6503	SO:0001583	missense	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.596C>T	2.37:g.87016475G>A	ENSP00000386559:p.Ser199Leu		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S240L	ENST00000409511.2	37	c.719	CCDS1992.1	2	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293331	0.40594	.	.	ENSG00000153563	ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T	0.76709	-0.99;-0.99;-1.04;-1.02	4.67	4.67	0.58626	.	0.208429	0.41097	D	0.000957	T	0.64549	0.2608	N	0.20574	0.59	0.80722	D	1	B;B	0.25521	0.107;0.128	B;B	0.23275	0.021;0.045	T	0.64972	-0.6281	10	0.56958	D	0.05	-13.4651	13.2411	0.59997	0.0:0.0:1.0:0.0	.	240;199	B4DT80;P01732	.;CD8A_HUMAN	L	199;199;184;240;162	ENSP00000283635:S199L;ENSP00000386559:S199L;ENSP00000438371:S240L;ENSP00000387314:S162L	ENSP00000283635:S199L	S	-	2	0	CD8A	86869986	0.947000	0.32204	0.704000	0.30370	0.721000	0.41392	2.715000	0.47210	2.583000	0.87209	0.491000	0.48974	TCA	CD8A	-	NULL		0.617	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	G	NM_001768		87016475	-1	no_errors	ENST00000538832	ensembl	human	known	70_37	missense	SNP	0.812	A	A	87016475	G	A	87016475	3	1	108	1	0	0	0	0	1	0	0	0	3049	1294	45	1	123	1	CD8A	2	87016475	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	12316893	87016475	156182898	25	16055										
MGAT4A	11320	genome.wustl.edu	37	chr2	99260398	99260398	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	taacttactgcatctttttcAgggttgcagactttcaccca	6	11	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:99260398A>G	ENST00000264968.3	-	9	1371	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P	MGAT4A_ENST00000393487.1_Silent_p.P336P|MGAT4A_ENST00000409391.1_Silent_p.P336P|MGAT4A_ENST00000414521.2_Silent_p.P208P			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	336					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CATCTTTTTCAGGGTTGCAGA	0.378																																																	0													71	72	71					2																	99260398		2203	4300	6503	SO:0001819	synonymous_variant	11320			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1008T>C	2.37:g.99260398A>G			B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	pfam_Glyco_transf_54	p.P336	ENST00000264968.3	37	c.1008	CCDS2036.1	2																																																																																			MGAT4A	-	pfam_Glyco_transf_54		0.378	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	A	NM_012214		99260398	-1	no_errors	ENST00000264968	ensembl	human	known	70_37	silent	SNP	0.991	G	G	99260398	A	G	99260398	2	3	108	1	0	0	0	0	0	0	0	1	9568	175	7	5		5	MGAT4A	2	99260398	Silent	SNP	A	TCGA-EK-A2RD-01A-12D-A20U-09	12243923	99260398	143938975	26	16056										
IL18RAP	8807	genome.wustl.edu	37	chr2	103040318	103040318	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	catattctacaaggagtgaaGaggaatttgtcttattttgt	9	4	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:103040318G>C	ENST00000264260.2	+	4	707	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	40					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAGGAGTGAAGAGGAATTTGT	0.378																																																	0													55	56	55					2																	103040318		2203	4300	6503	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.118G>C	2.37:g.103040318G>C	ENSP00000264260:p.Glu40Gln		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.E40Q	ENST00000264260.2	37	c.118	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603770	0.28534	.	.	ENSG00000115607	ENST00000264260;ENST00000450855	T	0.03272	3.99	5.41	4.54	0.55810	.	0.088660	0.48767	D	0.000174	T	0.14141	0.0342	M	0.69823	2.125	0.41391	D	0.987616	D	0.67145	0.996	D	0.66497	0.944	T	0.00331	-1.1811	10	0.87932	D	0	.	10.5921	0.45316	0.0896:0.0:0.9104:0.0	.	40	O95256	I18RA_HUMAN	Q	40	ENSP00000264260:E40Q	ENSP00000264260:E40Q	E	+	1	0	IL18RAP	102406750	0.883000	0.30277	0.023000	0.16930	0.010000	0.07245	1.985000	0.40668	1.412000	0.46977	0.563000	0.77884	GAG	IL18RAP	-	NULL		0.378	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	G	NM_003853		103040318	1	no_errors	ENST00000264260	ensembl	human	known	70_37	missense	SNP	0.107	C	C	103040318	G	C	103040318	3	2	108	1	0	0	0	0	1	0	0	0	7668	943	33	1	124	1	IL18RAP	2	103040318	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	3779920	103040318	140159055	27	16057										
CACNB4	785	genome.wustl.edu	37	chr2	152830219	152830219	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	attccatgcaggtacaaattGtcatacatggaggtgtgata	10	6	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:152830219G>T	ENST00000539935.1	-	3	215				CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000360283.6_Missense_Mutation_p.D3E|CACNB4_ENST00000397327.2_5'UTR|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Missense_Mutation_p.D3E	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTACAAATTGTCATACATGG	0.448																																																	0													68	66	67					2																	152830219		1880	4114	5994	SO:0001627	intron_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.148-90335C>A	2.37:g.152830219G>T			A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.D3E	ENST00000539935.1	37	c.9	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127809	0.37533	.	.	ENSG00000182389	ENST00000360283;ENST00000534999	T;T	0.72615	-0.67;-0.67	5.78	5.78	0.91487	.	.	.	.	.	T	0.81465	0.4828	L	0.51422	1.61	0.23708	N	0.997051	B;D	0.61697	0.001;0.99	B;D	0.70935	0.001;0.971	T	0.73582	-0.3937	9	0.48119	T	0.1	.	18.7857	0.91954	0.0:0.0:1.0:0.0	.	3;3	E7DBM8;O00305-2	.;.	E	3	ENSP00000353425:D3E;ENSP00000443893:D3E	ENSP00000353425:D3E	D	-	3	2	CACNB4	152538465	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.342000	0.59341	2.740000	0.93945	0.313000	0.20887	GAC	CACNB4	-	prints_VDCC_L_b3su		0.448	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152830219	-1	no_errors	ENST00000360283	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152830219	G	T	152830219	1	4	108	0	1	0	0	0	0	0	0	0	2560	1368	48	4		4	CACNB4	2	152830219	Intron	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	49789901	152830219	90369154	28	16058										
DYNC1I2	1781	genome.wustl.edu	37	chr2	172569303	172569303	+	Missense_Mutation	SNP	C	C	T													0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gcattgggatacagatccatCagttcttcagcttcactcag							TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:172569303C>T	ENST00000397119.3	+	6	529	c.362C>T	c.(361-363)tCa>tTa	p.S121L	DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S115L|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S121L|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.S121L|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S115L|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000340296.4_Intron|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S121L|AC068039.1_ENST00000598148.1_5'Flank	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	121					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACAGATCCATCAGTTCTTCAG	0.363																																																	0													203	189	193					2																	172569303		1845	4098	5943	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.362C>T	2.37:g.172569303C>T	ENSP00000380308:p.Ser121Leu		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S121L	ENST00000397119.3	37	c.362	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914775	0.92178	.	.	ENSG00000077380	ENST00000452242;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000438879;ENST00000409317;ENST00000409773;ENST00000411953;ENST00000409453;ENST00000443458;ENST00000422646	T;T;T;T;T;T	0.77750	-1.12;-0.99;-0.99;-0.99;-0.99;-0.85	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.91635	0.999;0.992	D	0.86398	0.1740	10	0.72032	D	0.01	-6.3228	18.1587	0.89702	0.0:1.0:0.0:0.0	.	115;121	Q13409-2;Q13409	.;DC1I2_HUMAN	L	115;121;115;121;133;115;121;133;121;121;115	ENSP00000433791:S121L;ENSP00000263811:S115L;ENSP00000380308:S121L;ENSP00000386591:S115L;ENSP00000386415:S121L;ENSP00000386886:S121L	ENSP00000263811:S115L	S	+	2	0	DYNC1I2	172277549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	2.306000	0.77630	0.591000	0.81541	TCA	DYNC1I2	-	NULL		0.363	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	C	NM_001378		172569303	1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172569303	C	T	172569303	3	4	108	1	0	0	0	0	1	0	0	0	4853	838	29	1	380	1	DYNC1I2	2	172569303	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	19739084	172569303	70630070	29	16059	85	2								
DYNC1I2	1781	genome.wustl.edu	37	chr2	172569311	172569311	+	Nonsense_Mutation	SNP	C	C	T													0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atacagatccatcagttcttCagcttcactcagattccgat							TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:172569311C>T	ENST00000397119.3	+	6	537	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000409317.1_Nonsense_Mutation_p.Q118*|DYNC1I2_ENST00000409453.1_Nonsense_Mutation_p.Q124*|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000534253.2_Nonsense_Mutation_p.Q124*|DYNC1I2_ENST00000263811.4_Nonsense_Mutation_p.Q118*|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000340296.4_Intron|DYNC1I2_ENST00000409773.1_Nonsense_Mutation_p.Q124*|AC068039.1_ENST00000598148.1_5'Flank	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCAGTTCTTCAGCTTCACTC	0.353																																																	0													200	187	191					2																	172569311		1842	4091	5933	SO:0001587	stop_gained	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.370C>T	2.37:g.172569311C>T	ENSP00000380308:p.Gln124*		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Nonsense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.Q124*	ENST00000397119.3	37	c.370	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.371147	0.95923	.	.	ENSG00000077380	ENST00000452242;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000438879;ENST00000409317;ENST00000409773;ENST00000411953;ENST00000409453;ENST00000443458;ENST00000422646	.	.	.	4.93	4.93	0.64822	.	0.061464	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-5.3916	18.1391	0.89633	0.0:1.0:0.0:0.0	.	.	.	.	X	118;124;118;124;136;118;124;136;124;124;118	.	ENSP00000263811:Q118X	Q	+	1	0	DYNC1I2	172277557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	2.301000	0.77427	0.585000	0.79938	CAG	DYNC1I2	-	NULL		0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	C	NM_001378		172569311	1	no_errors	ENST00000397119	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	172569311	C	T	172569311	4	4	108	1	0	0	0	0	0	1	0	0	4853	827	29	1	388	1	DYNC1I2	2	172569311	Nonsense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	8	172569311	70630062	30	16060	85	2								
TTN	7273	genome.wustl.edu	37	chr2	179445312	179445312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tgagtgtcttccttaagtccGcatcaagttctccctcaggt	8	12	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:179445312G>A	ENST00000591111.1	-	267	62095	c.61871C>T	c.(61870-61872)gCg>gTg	p.A20624V	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A22265V|TTN_ENST00000342992.6_Missense_Mutation_p.A19697V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A13325V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A13200V|TTN_ENST00000342175.6_Missense_Mutation_p.A13392V			Q8WZ42	TITIN_HUMAN	titin	20624					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTAAGTCCGCATCAAGTTC	0.398																																																	0													61	53	55					2																	179445312		1844	4082	5926	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61871C>T	2.37:g.179445312G>A	ENSP00000465570:p.Ala20624Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A19697V	ENST00000591111.1	37	c.59090		2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994777	0.54041	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;0.17;0.16;0.13	5.34	5.34	0.76211	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.78323	0.4265	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80183	-0.1488	9	0.87932	D	0	.	19.0305	0.92955	0.0:0.0:1.0:0.0	.	13200;13325;13392;20624	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	19697;13200;13392;13325;13198	ENSP00000343764:A19697V;ENSP00000434586:A13200V;ENSP00000340554:A13392V;ENSP00000352154:A13325V	ENSP00000340554:A13392V	A	-	2	0	TTN	179153558	1.000000	0.71417	0.943000	0.38184	0.973000	0.67179	9.866000	0.99616	2.500000	0.84329	0.563000	0.77884	GCG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179445312	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179445312	G	A	179445312	3	1	108	1	0	0	0	0	1	0	0	0	16766	1087	38	2	41369	2	TTN	2	179445312	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	6876001	179445312	63754061	31	16061										
TTN	7273	genome.wustl.edu	37	chr2	179584091	179584091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctgaaatcggggctgagccaGagactcggcactccaaaaca	11	12	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:179584091G>C	ENST00000591111.1	-	81	23299	c.23075C>G	c.(23074-23076)tCt>tGt	p.S7692C	TTN_ENST00000589042.1_Missense_Mutation_p.S8009C|TTN_ENST00000342992.6_Missense_Mutation_p.S6765C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13236	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGAGCCAGAGACTCGGCA	0.512																																																	0													97	99	98					2																	179584091		1905	4114	6019	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23075C>G	2.37:g.179584091G>C	ENSP00000465570:p.Ser7692Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S6765C	ENST00000591111.1	37	c.20294		2	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169309	0.21621	.	.	ENSG00000155657	ENST00000342992	T	0.69306	-0.39	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81744	0.4887	M	0.80616	2.505	0.80722	D	1	P	0.50066	0.931	P	0.57152	0.814	T	0.82491	-0.0431	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7692	Q8WZ42	TITIN_HUMAN	C	6765	ENSP00000343764:S6765C	ENSP00000343764:S6765C	S	-	2	0	TTN	179292336	1.000000	0.71417	0.943000	0.38184	0.150000	0.21749	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179584091	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.990	C	C	179584091	G	C	179584091	3	2	108	1	0	0	0	0	1	0	0	0	16766	942	33	1	80623	1	TTN	2	179584091	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	138779	179584091	63615282	32	16062										
PMS1	5378	genome.wustl.edu	37	chr2	190682823	190682823	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	caactgcaaaaaaatgtaaaGatgaaataaaaaagatccaa	5	5	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:190682823G>A	ENST00000441310.2	+	5	732	c.499G>A	c.(499-501)Gat>Aat	p.D167N	PMS1_ENST00000418224.3_De_novo_Start_OutOfFrame|PMS1_ENST00000409823.3_Missense_Mutation_p.D167N|PMS1_ENST00000432292.3_De_novo_Start_OutOfFrame|PMS1_ENST00000447232.2_Missense_Mutation_p.D167N|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	167					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAAATGTAAAGATGAAATAAA	0.318			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													41	42	42					2																	190682823		2202	4297	6499	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.499G>A	2.37:g.190682823G>A	ENSP00000406490:p.Asp167Asn		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.D167N	ENST00000441310.2	37	c.499	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.105759	0.94292	.	.	ENSG00000064933	ENST00000441310;ENST00000409823;ENST00000424766;ENST00000447232;ENST00000424307	T;T;T;T;D	0.89810	-0.74;-0.74;-0.74;-0.74;-2.57	5.36	5.36	0.76844	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.095595	0.64402	D	0.000001	D	0.91888	0.7432	M	0.69823	2.125	0.80722	D	1	B;P;B;P;B;B;B	0.39044	0.255;0.454;0.235;0.656;0.255;0.409;0.255	B;B;B;P;B;B;B	0.47162	0.155;0.186;0.115;0.54;0.109;0.184;0.155	D	0.92191	0.5759	10	0.66056	D	0.02	-21.2146	19.4502	0.94863	0.0:0.0:1.0:0.0	.	167;167;167;167;167;167;167	Q4VAL4;B4DMF4;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	N	167;167;167;167;106	ENSP00000406490:D167N;ENSP00000387125:D167N;ENSP00000410082:D167N;ENSP00000401064:D167N;ENSP00000389938:D106N	ENSP00000387125:D167N	D	+	1	0	PMS1	190391068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.972000	0.93424	2.681000	0.91329	0.585000	0.79938	GAT	PMS1	-	superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N		0.318	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	G			190682823	1	no_errors	ENST00000441310	ensembl	human	known	70_37	missense	SNP	1.000	A	A	190682823	G	A	190682823	3	1	108	1	0	0	0	0	1	0	0	0	12166	942	33	1	513	1	PMS1	2	190682823	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	11098732	190682823	52516550	33	16063										
PIKFYVE	200576	genome.wustl.edu	37	chr2	209218783	209218783	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gctgtgctgagaacctcgatCcatagtgactcccatttcct	8	13	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:209218783C>G	ENST00000264380.4	+	40	6164	c.6006C>G	c.(6004-6006)atC>atG	p.I2002M		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	2002	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAACCTCGATCCATAGTGACT	0.418																																																	0													178	175	176					2																	209218783		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.6006C>G	2.37:g.209218783C>G	ENSP00000264380:p.Ile2002Met		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.I2002M	ENST00000264380.4	37	c.6006	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442162	0.63067	.	.	ENSG00000115020	ENST00000264380	T	0.35048	1.33	6.17	5.3	0.74995	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.61845	-0.6979	10	0.87932	D	0	-16.9687	9.6181	0.39704	0.2295:0.7021:0.0:0.0684	.	2002	Q9Y2I7	FYV1_HUMAN	M	2002	ENSP00000264380:I2002M	ENSP00000264380:I2002M	I	+	3	3	PIKFYVE	208927028	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	1.121000	0.31283	1.627000	0.50400	0.655000	0.94253	ATC	PIKFYVE	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.418	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209218783	1	no_errors	ENST00000264380	ensembl	human	known	70_37	missense	SNP	1.000	G	G	209218783	C	G	209218783	3	3	108	1	0	0	0	0	1	0	0	0	11948	845	30	1	6171	1	PIKFYVE	2	209218783	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	18535960	209218783	33980590	34	16064										
SP140	11262	genome.wustl.edu	37	chr2	231134292	231134292	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aatgaatgaagaaggagaatCagaagagcttgcttctagcc	11	6	2	6			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:231134292C>T	ENST00000392045.3	+	13	1400	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	SP140_ENST00000420434.3_Missense_Mutation_p.S402L|SP140_ENST00000343805.6_Missense_Mutation_p.S369L|SP140_ENST00000417495.3_Missense_Mutation_p.S315L|SP140_ENST00000486687.2_Missense_Mutation_p.S353L|SP140_ENST00000350136.5_Missense_Mutation_p.S298L	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	429					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGGAGAATCAGAAGAGCTT	0.348																																																	0													122	119	119					2																	231134292		1838	4090	5928	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1286C>T	2.37:g.231134292C>T	ENSP00000375899:p.Ser429Leu		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.S429L	ENST00000392045.3	37	c.1286	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267470	0.23136	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.58358	0.56;0.85;0.63;0.34;0.62	2.68	0.793	0.18632	.	.	.	.	.	T	0.48714	0.1515	N	0.19112	0.55	0.09310	N	1	D;B;B;B	0.57899	0.981;0.176;0.27;0.176	D;B;B;B	0.67231	0.95;0.026;0.059;0.026	T	0.32481	-0.9905	9	0.30854	T	0.27	.	4.3707	0.11246	0.0:0.6508:0.0:0.3492	.	402;315;369;429	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	L	353;298;429;315;369;402	ENSP00000440107:S353L;ENSP00000345846:S298L;ENSP00000375899:S429L;ENSP00000342096:S369L;ENSP00000398210:S402L	ENSP00000342096:S369L	S	+	2	0	SP140	230842536	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.566000	0.05922	0.210000	0.20664	0.556000	0.70494	TCA	SP140	-	NULL		0.348	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	C	NM_007237		231134292	1	no_errors	ENST00000392045	ensembl	human	known	70_37	missense	SNP	0.002	T	T	231134292	C	T	231134292	3	4	108	1	0	0	0	0	1	0	0	0	14992	838	29	1	1453	1	SP140	2	231134292	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	21915509	231134292	12065081	35	16065										
SNED1	25992	genome.wustl.edu	37	chr2	242003111	242003111	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gcttcgttggagtccactgtGagacaggtaggggctccctc	14	11	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr2:242003111G>C	ENST00000310397.8	+	18	2479	c.2479G>C	c.(2479-2481)Gag>Cag	p.E827Q	SNED1_ENST00000405547.3_Missense_Mutation_p.E827Q|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.E827Q|SNED1_ENST00000401884.1_Missense_Mutation_p.E827Q	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	827	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGTCCACTGTGAGACAGGTAG	0.642																																																	0													29	33	31					2																	242003111		1893	4103	5996	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2479G>C	2.37:g.242003111G>C	ENSP00000308893:p.Glu827Gln		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.E827Q	ENST00000310397.8	37	c.2479	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656825	0.67586	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.44	4.44	0.53790	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000042	D	0.96485	0.8853	M	0.62723	1.935	0.40631	D	0.981851	P;D	0.89917	0.59;1.0	B;D	0.85130	0.323;0.997	D	0.96891	0.9653	10	0.49607	T	0.09	.	16.6618	0.85242	0.0:0.0:1.0:0.0	.	827;827	B5MEF5;Q8TER0	.;SNED1_HUMAN	Q	827	ENSP00000384871:E827Q;ENSP00000386007:E827Q;ENSP00000308893:E827Q;ENSP00000342992:E827Q	ENSP00000308893:E827Q	E	+	1	0	SNED1	241651784	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	4.792000	0.62467	2.019000	0.59389	0.467000	0.42956	GAG	SNED1	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.642	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		242003111	1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	1.000	C	C	242003111	G	C	242003111	3	2	108	1	0	0	0	0	1	0	0	0	14875	1291	45	1	2549	1	SNED1	2	242003111	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	10868819	242003111	1196262	36	16066										
TRANK1	9881	genome.wustl.edu	37	chr3	36875105	36875105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gggcggcccccagcagacatGaggcctggaagtccttgtcg	15	13	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:36875105G>A	ENST00000429976.2	-	21	6084	c.5837C>T	c.(5836-5838)tCa>tTa	p.S1946L	TRANK1_ENST00000428977.2_Missense_Mutation_p.S1396L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1396L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1946							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGCAGACATGAGGCCTGGAA	0.562																																																	0													35	36	36					3																	36875105		1957	4140	6097	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5837C>T	3.37:g.36875105G>A	ENSP00000416168:p.Ser1946Leu		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.S1946L	ENST00000429976.2	37	c.5837	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236981	0.39498	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33654	1.4;1.82;1.4	5.02	3.22	0.36961	.	0.000000	0.48286	D	0.000194	T	0.23451	0.0567	L	0.32530	0.975	0.34239	D	0.677465	B	0.32071	0.355	B	0.24974	0.057	T	0.27502	-1.0072	10	0.38643	T	0.18	.	8.887	0.35409	0.2283:0.0:0.7717:0.0	.	1946	O15050	TRNK1_HUMAN	L	1396;1946;1396	ENSP00000416826:S1396L;ENSP00000416168:S1946L;ENSP00000301807:S1396L	ENSP00000301807:S1396L	S	-	2	0	TRANK1	36850109	0.995000	0.38212	0.917000	0.36280	0.993000	0.82548	2.403000	0.44530	0.645000	0.30675	0.561000	0.74099	TCA	TRANK1	-	NULL		0.562	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36875105	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	missense	SNP	0.852	A	A	36875105	G	A	36875105	3	1	108	1	0	0	0	0	1	0	0	0	16485	1294	45	1	2952	1	TRANK1	3	36875105	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		36875105	161147325	37	16067										
PDHB	5162	genome.wustl.edu	37	chr3	58415943	58415943	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcaaaaggaaccccatacatCaattcattctctagcaccac	3	14	4	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:58415943C>G	ENST00000302746.6	-	7	654	c.612G>C	c.(610-612)ttG>ttC	p.L204F	PDHB_ENST00000474765.1_Missense_Mutation_p.L186F|PDHB_ENST00000485460.1_Missense_Mutation_p.L186F|RP11-802O23.3_ENST00000607214.1_RNA	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	204					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	CCCCATACATCAATTCATTCT	0.328																																																	0													81	83	82					3																	58415943		2203	4300	6503	SO:0001583	missense	5162				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.612G>C	3.37:g.58415943C>G	ENSP00000307241:p.Leu204Phe		B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.L204F	ENST00000302746.6	37	c.612	CCDS2890.1	3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360127	0.82353	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460;ENST00000474765	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	6.17	6.17	0.99709	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.86953	2.85	0.80722	D	1	B;B;B;D	0.54207	0.06;0.214;0.014;0.965	B;B;B;P	0.52823	0.036;0.093;0.021;0.71	D	0.95407	0.8495	10	0.87932	D	0	-8.4108	15.8933	0.79318	0.0:0.9342:0.0:0.0658	.	186;186;186;204	B4DDD7;C9J634;P11177-2;P11177	.;.;.;ODPB_HUMAN	F	204;186;186;186	ENSP00000307241:L204F;ENSP00000373220:L186F;ENSP00000417267:L186F;ENSP00000418448:L186F	ENSP00000307241:L204F	L	-	3	2	PDHB	58390983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.284000	0.33249	2.941000	0.99782	0.655000	0.94253	TTG	PDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.328	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHB	HGNC	protein_coding	OTTHUMT00000353558.1	C			58415943	-1	no_errors	ENST00000302746	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58415943	C	G	58415943	3	3	108	1	0	0	0	0	1	0	0	0	11690	825	29	1	483	1	PDHB	3	58415943	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	21540838	58415943	139606487	38	16068										
ATG3	64422	genome.wustl.edu	37	chr3	112260686	112260686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttctccttcatcttcatcttCttcctcttcacatagtgctg	3	14	8	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:112260686C>T	ENST00000283290.5	-	7	873	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.E147K	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	147					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TCTTCATCTTCTTCCTCTTCA	0.299																																																	0													168	155	160					3																	112260686		2203	4300	6503	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.439G>A	3.37:g.112260686C>T	ENSP00000283290:p.Glu147Lys		Q6PKC5|Q9H6L9	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C	p.E147K	ENST00000283290.5	37	c.439	CCDS2966.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070225	0.76301	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.27	5.27	0.74061	Autophagy-related protein 3, N-terminal (1);	0.283555	0.38111	N	0.001807	T	0.60919	0.2306	L	0.46741	1.465	0.41657	D	0.989163	B;B;B	0.26081	0.13;0.083;0.141	B;B;B	0.35353	0.037;0.201;0.127	T	0.56038	-0.8045	9	0.16896	T	0.51	-4.2219	18.8782	0.92346	0.0:1.0:0.0:0.0	.	60;147;147	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	K	147;147;60	.	ENSP00000283290:E147K	E	-	1	0	ATG3	113743376	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.118000	0.71583	2.466000	0.83321	0.467000	0.42956	GAA	ATG3	-	pfam_Autophagy-rel_prot_3_N		0.299	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	HGNC	protein_coding	OTTHUMT00000354147.1	C	NM_022488		112260686	-1	no_errors	ENST00000283290	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112260686	C	T	112260686	3	4	108	1	0	0	0	0	1	0	0	0	1096	922	32	1	529	1	ATG3	3	112260686	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	53844743	112260686	85761744	39	16069										
PARP14	54625	genome.wustl.edu	37	chr3	122432403	122432403	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tgtaaattcaacatcaaactCattcaatctcaaagcaggta	4	9	5	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:122432403C>T	ENST00000474629.2	+	10	4018	c.3752C>T	c.(3751-3753)tCa>tTa	p.S1251L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1251	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACATCAAACTCATTCAATCTC	0.383																																																	0													87	82	83					3																	122432403		1878	4110	5988	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3752C>T	3.37:g.122432403C>T	ENSP00000418194:p.Ser1251Leu		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1251L	ENST00000474629.2	37	c.3752	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037561	0.35989	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.22743	1.94	5.24	5.24	0.73138	Appr-1-p processing (3);	0.526506	0.19029	N	0.124607	T	0.34571	0.0902	M	0.66439	2.03	0.41240	D	0.98663	B;B	0.29270	0.228;0.24	B;B	0.39771	0.083;0.309	T	0.14420	-1.0473	10	0.56958	D	0.05	.	17.5692	0.87930	0.0:1.0:0.0:0.0	.	1251;1251	Q460N5-4;Q460N5	.;PAR14_HUMAN	L	1251;1170;247	ENSP00000418194:S1251L	ENSP00000381224:S247L	S	+	2	0	PARP14	123915093	0.000000	0.05858	0.733000	0.30861	0.068000	0.16541	1.156000	0.31712	2.745000	0.94114	0.650000	0.86243	TCA	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.383	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122432403	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.980	T	T	122432403	C	T	122432403	3	4	108	1	0	0	0	0	1	0	0	0	11482	838	29	1	3790	1	PARP14	3	122432403	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	10171717	122432403	75590027	40	16070										
PRR23B	389151	genome.wustl.edu	37	chr3	138738973	138738973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cttctagaggaggggtagagCccagcggctgagccggttgg	18	9	1	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:138738973C>T	ENST00000329447.5	-	1	795	c.531G>A	c.(529-531)ggG>ggA	p.G177G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	177										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGGGTAGAGCCCAGCGGCTG	0.652																																																	0													32	40	38					3																	138738973		2201	4300	6501	SO:0001819	synonymous_variant	389151			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.531G>A	3.37:g.138738973C>T			B2RNV9	Silent	SNP	pfam_UPF0572	p.G177	ENST00000329447.5	37	c.531	CCDS33868.1	3																																																																																			PRR23B	-	pfam_UPF0572		0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	C	NM_001013650		138738973	-1	no_errors	ENST00000329447	ensembl	human	known	70_37	silent	SNP	0.002	T	T	138738973	C	T	138738973	2	4	108	1	0	0	0	0	0	0	0	1	12622	726	26	4		4	PRR23B	3	138738973	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	16306570	138738973	59283457	41	16071										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	108	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	40197109	178936082	19086348	42	16072										
MASP1	5648	genome.wustl.edu	37	chr3	186940918	186940918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tataaagtgaacttcacctcCatcagggtctctgggaacct	8	11	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:186940918C>T	ENST00000337774.5	-	14	2195	c.1806G>A	c.(1804-1806)atG>atA	p.M602I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	602	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTTCACCTCCATCAGGGTCT	0.522																																																	0													105	94	98					3																	186940918		2203	4300	6503	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1806G>A	3.37:g.186940918C>T	ENSP00000336792:p.Met602Ile		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.M602I	ENST00000337774.5	37	c.1806	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284339	0.80803	.	.	ENSG00000127241	ENST00000337774	D	0.92805	-3.11	5.47	5.47	0.80525	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92433	0.7598	M	0.66560	2.04	0.80722	D	1	P	0.40909	0.732	P	0.44811	0.461	D	0.92872	0.6315	9	0.66056	D	0.02	.	15.1887	0.73025	0.0:1.0:0.0:0.0	.	602	P48740	MASP1_HUMAN	I	602	ENSP00000336792:M602I	ENSP00000336792:M602I	M	-	3	0	MASP1	188423612	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.030000	0.64128	2.727000	0.93392	0.655000	0.94253	ATG	MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.522	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	C	NM_001879		186940918	-1	no_errors	ENST00000337774	ensembl	human	known	70_37	missense	SNP	1.000	T	T	186940918	C	T	186940918	3	4	108	1	0	0	0	0	1	0	0	0	9345	594	21	4	305	4	MASP1	3	186940918	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	8004836	186940918	11081512	43	16073										
TPRG1	285386	genome.wustl.edu	37	chr3	189038526	189038526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	taactgaacccattttgattGagacctacacagggctgatg	9	9	0	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr3:189038526G>C	ENST00000345063.3	+	6	912	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	TPRG1_ENST00000433971.1_Missense_Mutation_p.E249Q	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	249						cytoplasm (GO:0005737)		p.E249Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CATTTTGATTGAGACCTACAC	0.438																																																	1	Substitution - Missense(1)	lung(1)											109	99	102					3																	189038526		2203	4300	6503	SO:0001583	missense	285386			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.745G>C	3.37:g.189038526G>C	ENSP00000341031:p.Glu249Gln			Missense_Mutation	SNP	pfam_Inositol_phosphatase	p.E249Q	ENST00000345063.3	37	c.745	CCDS3292.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609934	0.87258	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.69	4.82	0.62117	.	0.049177	0.85682	D	0.000000	T	0.57272	0.2042	M	0.76838	2.35	0.53688	D	0.99997	P	0.36086	0.536	B	0.34536	0.185	T	0.58814	-0.7570	8	.	.	.	-18.4775	12.5667	0.56314	0.0807:0.0:0.9192:0.0	.	249	Q6ZUI0	TPRG1_HUMAN	Q	249	.	.	E	+	1	0	TPRG1	190521220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	1.416000	0.47057	0.563000	0.77884	GAG	TPRG1	-	NULL		0.438	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1	HGNC	protein_coding	OTTHUMT00000343931.1	G	NM_198485		189038526	1	no_errors	ENST00000345063	ensembl	human	known	70_37	missense	SNP	1.000	C	C	189038526	G	C	189038526	3	2	108	1	0	0	0	0	1	0	0	0	16449	1291	45	1	763	1	TPRG1	3	189038526	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	2097608	189038526	8983904	44	16074										
UGT2A1	10941	genome.wustl.edu	37	chr4	70465090	70465090	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atttcagctttccccatagtCtcacataacgtagtgggtct	7	11	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:70465090C>G	ENST00000503640.1	-	2	793	c.738G>C	c.(736-738)gaG>gaC	p.E246D	UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E255D|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E290D|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E456D|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E246D	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	246					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCCCATAGTCTCACATAACG	0.373																																																	0													75	71	73					4																	70465090		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.738G>C	4.37:g.70465090C>G	ENSP00000424478:p.Glu246Asp		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E255D	ENST00000503640.1	37	c.765	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	C	5.022	0.189748	0.09547	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62639	0.13;0.13;0.01;0.01;0.14	4.63	-1.28	0.09318	.	0.116455	0.56097	D	0.000032	T	0.64549	0.2608	L	0.52573	1.65	.	.	.	B;P;D;D;D	0.76494	0.059;0.531;0.997;0.996;0.999	B;B;P;D;D	0.80764	0.037;0.381;0.89;0.987;0.994	T	0.65261	-0.6211	9	0.28530	T	0.3	.	5.4456	0.16533	0.0:0.31:0.1562:0.5338	.	456;456;246;255;246	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	D	255;246;246;456;290	ENSP00000387888:E255D;ENSP00000424478:E246D;ENSP00000421432:E246D;ENSP00000425497:E456D;ENSP00000286604:E290D	ENSP00000286604:E290D	E	-	3	2	UGT2A1	70499679	0.713000	0.27926	0.051000	0.19133	0.060000	0.15804	1.049000	0.30392	-0.196000	0.10366	-0.259000	0.10710	GAG	UGT2A1	-	pfam_UDP_glucos_trans		0.373	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	C	NM_006798		70465090	-1	no_errors	ENST00000457664	ensembl	human	known	70_37	missense	SNP	0.233	G	G	70465090	C	G	70465090	3	3	108	1	0	0	0	0	1	0	0	0	16984	912	32	1	865	1	UGT2A1	4	70465090	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		70465090	120689186	45	16075										
BMPR1B	658	genome.wustl.edu	37	chr4	96073848	96073848	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cctagtgcccagtgacccctCttatgaggacatgagggaga	12	11	1	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:96073848C>G	ENST00000515059.1	+	12	1590	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C	BMPR1B_ENST00000264568.4_Missense_Mutation_p.S436C|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S436C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S466C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGTGACCCCTCTTATGAGGAC	0.413																																																	0													80	72	75					4																	96073848		2203	4300	6503	SO:0001583	missense	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1307C>G	4.37:g.96073848C>G	ENSP00000426617:p.Ser436Cys		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.S466C	ENST00000515059.1	37	c.1397	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847839	0.91277	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96344	0.9253	10	0.87932	D	0	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	436	O00238	BMR1B_HUMAN	C	436;436;436;466;436;436	ENSP00000426617:S436C;ENSP00000425444:S436C;ENSP00000421671:S436C;ENSP00000401907:S466C;ENSP00000264568:S436C;ENSP00000378389:S436C	ENSP00000264568:S436C	S	+	2	0	BMPR1B	96292871	1.000000	0.71417	0.860000	0.33809	0.946000	0.59487	7.818000	0.86416	2.822000	0.97130	0.650000	0.86243	TCT	BMPR1B	-	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		0.413	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	C	NM_001203		96073848	1	no_errors	ENST00000440890	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96073848	C	G	96073848	3	3	108	1	0	0	0	0	1	0	0	0	1471	913	32	1	1341	1	BMPR1B	4	96073848	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	25608758	96073848	95080428	46	16076										
ENPEP	2028	genome.wustl.edu	37	chr4	111398096	111398096	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tggtggtcgaggcggaggaaGagcttacccccagcagtgga	17	9	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:111398096G>A	ENST00000265162.5	+	1	868	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	176					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GGCGGAGGAAGAGCTTACCCC	0.597																																																	0													79	87	84					4																	111398096		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.526G>A	4.37:g.111398096G>A	ENSP00000265162:p.Glu176Lys		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E176K	ENST00000265162.5	37	c.526	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354158	0.24512	.	.	ENSG00000138792	ENST00000265162	T	0.02525	4.26	5.43	1.53	0.23141	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.675194	0.15798	N	0.244117	T	0.02929	0.0087	L	0.41124	1.26	0.27347	N	0.956339	P	0.40534	0.72	B	0.41374	0.355	T	0.27536	-1.0071	10	0.07175	T	0.84	.	10.9017	0.47056	0.0679:0.3644:0.5677:0.0	.	176	Q07075	AMPE_HUMAN	K	176	ENSP00000265162:E176K	ENSP00000265162:E176K	E	+	1	0	ENPEP	111617545	0.345000	0.24835	0.136000	0.22124	0.233000	0.25261	0.478000	0.22212	0.198000	0.20407	0.561000	0.74099	GAG	ENPEP	-	pfam_Peptidase_M1_N		0.597	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	G			111398096	1	no_errors	ENST00000265162	ensembl	human	known	70_37	missense	SNP	0.485	A	A	111398096	G	A	111398096	3	1	108	1	0	0	0	0	1	0	0	0	5140	943	33	1	528	1	ENPEP	4	111398096	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	15324248	111398096	79756180	47	16077										
FGA	2243	genome.wustl.edu	37	chr4	155505486	155505486	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccatagacttctgcacagttCtcttcccactggtctgcatc	6	15	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:155505486C>G	ENST00000302053.3	-	6	2469	c.2391G>C	c.(2389-2391)gaG>gaC	p.E797D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	797	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGCACAGTTCTCTTCCCACT	0.517																																					NSCLC(143;340 1922 20892 22370 48145)												0													131	122	125					4																	155505486		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2391G>C	4.37:g.155505486C>G	ENSP00000306361:p.Glu797Asp		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E797D	ENST00000302053.3	37	c.2391	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978027	0.34942	.	.	ENSG00000171560	ENST00000302053	T	0.76968	-1.06	5.85	3.11	0.35812	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.091975	0.64402	D	0.000001	T	0.62696	0.2449	L	0.31207	0.915	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.54616	-0.8267	10	0.36615	T	0.2	.	6.5372	0.22361	0.0:0.5515:0.2595:0.189	.	797	P02671	FIBA_HUMAN	D	797	ENSP00000306361:E797D	ENSP00000306361:E797D	E	-	3	2	FGA	155724936	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.794000	0.26958	0.780000	0.33566	0.650000	0.86243	GAG	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505486	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155505486	C	G	155505486	3	3	108	1	0	0	0	0	1	0	0	0	5848	912	32	1	213	1	FGA	4	155505486	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	44107390	155505486	35648790	48	16078										
NPY2R	4887	genome.wustl.edu	37	chr4	156136145	156136145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggttggatgccattcactctGaggtgtccgtgacattcaag	12	9	3	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:156136145G>A	ENST00000329476.3	+	2	1543	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	NPY2R_ENST00000506608.1_Missense_Mutation_p.E352K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	352					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CATTCACTCTGAGGTGTCCGT	0.502																																																	0													94	94	94					4																	156136145		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.1054G>A	4.37:g.156136145G>A	ENSP00000332591:p.Glu352Lys		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.E352K	ENST00000329476.3	37	c.1054	CCDS3791.1	4	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823151	0.71143	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.53857	0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.44542	1.39	0.50467	D	0.999875	B	0.29909	0.261	B	0.21546	0.035	T	0.31613	-0.9937	10	0.27785	T	0.31	.	18.9076	0.92469	0.0:0.0:1.0:0.0	.	352	P49146	NPY2R_HUMAN	K	352	ENSP00000332591:E352K;ENSP00000426366:E352K	ENSP00000332591:E352K	E	+	1	0	NPY2R	156355595	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	5.751000	0.68720	2.711000	0.92665	0.643000	0.83706	GAG	NPY2R	-	prints_NPY2_rcpt		0.502	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	G	NM_000910		156136145	1	no_errors	ENST00000329476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156136145	G	A	156136145	3	1	108	1	0	0	0	0	1	0	0	0	10633	1291	45	1	1056	1	NPY2R	4	156136145	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	630659	156136145	35018131	49	16079										
NEK1	4750	genome.wustl.edu	37	chr4	170510647	170510647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tccaagttgtactgttccatCtttagttaaaaatatgttct	5	7	2	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:170510647C>T	ENST00000439128.2	-	6	1055	c.415G>A	c.(415-417)Gat>Aat	p.D139N	NEK1_ENST00000507142.1_Missense_Mutation_p.D139N|NEK1_ENST00000510533.1_Missense_Mutation_p.D139N|NEK1_ENST00000512193.1_Missense_Mutation_p.D139N|NEK1_ENST00000511633.1_Missense_Mutation_p.D139N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACTGTTCCATCTTTAGTTAAA	0.274																																																	0													37	33	34					4																	170510647		1678	3861	5539	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.415G>A	4.37:g.170510647C>T	ENSP00000408020:p.Asp139Asn		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D139N	ENST00000439128.2	37	c.415	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226947	0.58668	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.20455	0.0492	N	0.20328	0.56	0.39574	D	0.969324	B;B;B;B;B;B	0.25719	0.003;0.108;0.043;0.108;0.043;0.132	B;B;B;B;B;B	0.34931	0.005;0.094;0.056;0.192;0.045;0.191	T	0.12941	-1.0528	10	0.17832	T	0.49	.	14.4671	0.67492	0.0:0.9301:0.0:0.0699	.	139;139;139;139;139;139	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;.;NEK1_HUMAN	N	139	ENSP00000408020:D139N;ENSP00000423332:D139N;ENSP00000427653:D139N;ENSP00000424757:D139N;ENSP00000424938:D139N	ENSP00000408020:D139N	D	-	1	0	NEK1	170747222	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.706000	0.54830	2.801000	0.96364	0.650000	0.86243	GAT	NEK1	-	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		0.274	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	C			170510647	-1	no_errors	ENST00000507142	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170510647	C	T	170510647	3	4	108	1	0	0	0	0	1	0	0	0	10345	913	32	1	3477	1	NEK1	4	170510647	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	14374502	170510647	20643629	50	16080										
CDKN2AIP	55602	genome.wustl.edu	37	chr4	184367300	184367300	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gaaaaaacagttctgcagttGagcaagatcacgcaaaaacc	8	9	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr4:184367300G>C	ENST00000504169.1	+	3	670	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	155					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCTGCAGTTGAGCAAGATCA	0.418																																																	0													88	89	89					4																	184367300		2203	4300	6503	SO:0001583	missense	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.463G>C	4.37:g.184367300G>C	ENSP00000427108:p.Glu155Gln		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.E155Q	ENST00000504169.1	37	c.463	CCDS34110.1	4	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583643	0.13749	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.33	4.48	0.54585	.	0.180621	0.37437	N	0.002092	T	0.40372	0.1114	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21690	-1.0238	9	0.30078	T	0.28	-8.1328	9.3595	0.38186	0.0757:0.1462:0.7781:0.0	.	155	Q9NXV6	CARF_HUMAN	Q	155	.	ENSP00000427108:E155Q	E	+	1	0	CDKN2AIP	184604294	0.997000	0.39634	1.000000	0.80357	0.113000	0.19764	0.862000	0.27899	1.459000	0.47892	-0.176000	0.13171	GAG	CDKN2AIP	-	NULL		0.418	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	G	NM_017632		184367300	1	no_errors	ENST00000504169	ensembl	human	known	70_37	missense	SNP	0.999	C	C	184367300	G	C	184367300	3	2	108	1	0	0	0	0	1	0	0	0	3167	1291	45	1	473	1	CDKN2AIP	4	184367300	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	13856653	184367300	6786976	51	16081										
RICTOR	253260	genome.wustl.edu	37	chr5	38957799	38957799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gctacataacctctttcattCagataggaaaatccttttgg	6	9	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:38957799C>T	ENST00000357387.3	-	25	2484	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.L818L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTCTTTCATTCAGATAGGAAA	0.308																																																	0													94	100	98					5																	38957799		2202	4297	6499	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2454G>A	5.37:g.38957799C>T				Silent	SNP	superfamily_ARM-type_fold	p.L818	ENST00000357387.3	37	c.2454	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold		0.308	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	C	NM_152756		38957799	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38957799	C	T	38957799	2	4	108	1	0	0	0	0	0	0	0	1	13388	813	29	1		1	RICTOR	5	38957799	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		38957799	141957461	52	16082										
TMEM171	134285	genome.wustl.edu	37	chr5	72419680	72419680	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gagccccggatgtgtgggttCctttctctgcagatcatggg	14	10	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:72419680C>T	ENST00000454765.2	+	2	953	c.480C>T	c.(478-480)ttC>ttT	p.F160F	TMEM171_ENST00000287773.5_Silent_p.F160F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	160						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TGTGTGGGTTCCTTTCTCTGC	0.562																																					NSCLC(112;638 2280 27369 30736)												0													144	147	146					5																	72419680		2203	4300	6503	SO:0001819	synonymous_variant	134285			BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.480C>T	5.37:g.72419680C>T			Q8N0S1|Q8TDT7	Silent	SNP	NULL	p.F160	ENST00000454765.2	37	c.480	CCDS4017.1	5																																																																																			TMEM171	-	NULL		0.562	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM171	HGNC	protein_coding	OTTHUMT00000254037.2	C	NM_173490		72419680	1	no_errors	ENST00000454765	ensembl	human	known	70_37	silent	SNP	0.997	T	T	72419680	C	T	72419680	2	4	108	1	0	0	0	0	0	0	0	1	16118	854	30	1		1	TMEM171	5	72419680	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	33461881	72419680	108495580	53	16083										
CMYA5	202333	genome.wustl.edu	37	chr5	79031279	79031279	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccaccaattttaatgtagctGagaaaccagctgatcattca	6	10	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:79031279G>A	ENST00000446378.2	+	2	6722	c.6691G>A	c.(6691-6693)Gag>Aag	p.E2231K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2231					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAATGTAGCTGAGAAACCAGC	0.388																																																	0													120	117	118					5																	79031279		1844	4095	5939	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6691G>A	5.37:g.79031279G>A	ENSP00000394770:p.Glu2231Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2231K	ENST00000446378.2	37	c.6691	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	6.447	0.450588	0.12223	.	.	ENSG00000164309	ENST00000446378	T	0.20463	2.07	6.16	2.22	0.28083	.	0.379722	0.22625	N	0.057651	T	0.15305	0.0369	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.20207	-1.0282	10	0.44086	T	0.13	.	5.9185	0.19067	0.1676:0.2941:0.5383:0.0	.	2231	Q8N3K9	CMYA5_HUMAN	K	2231	ENSP00000394770:E2231K	ENSP00000394770:E2231K	E	+	1	0	CMYA5	79067035	0.174000	0.23070	0.001000	0.08648	0.024000	0.10985	0.434000	0.21494	0.114000	0.18032	0.650000	0.86243	GAG	CMYA5	-	NULL		0.388	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79031279	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.019	A	A	79031279	G	A	79031279	3	1	108	1	0	0	0	0	1	0	0	0	3595	1291	45	1	6697	1	CMYA5	5	79031279	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	6611599	79031279	101883981	54	16084										
TMEM161B	153396	genome.wustl.edu	37	chr5	87521625	87521625	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aactgactttgtttctagatGaaggtcaatatcctttggaa	8	6	2	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:87521625G>A	ENST00000296595.6	-	4	374	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	TMEM161B_ENST00000512429.1_Missense_Mutation_p.H73Y|TMEM161B_ENST00000509387.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.H84Y|TMEM161B_ENST00000506536.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	84						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTTCTAGATGAAGGTCAATA	0.303																																																	0													126	123	124					5																	87521625		2202	4299	6501	SO:0001583	missense	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.250C>T	5.37:g.87521625G>A	ENSP00000296595:p.His84Tyr		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	pfam_Transmembrane_161A/B	p.H84Y	ENST00000296595.6	37	c.250	CCDS4065.1	5	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399171	0.62177	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393	.	.	.	5.02	5.02	0.67125	.	0.050121	0.85682	D	0.000000	T	0.56217	0.1970	L	0.43923	1.385	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50783	-0.8787	9	0.25751	T	0.34	-3.0464	18.6917	0.91585	0.0:0.0:1.0:0.0	.	84	Q8NDZ6	T161B_HUMAN	Y	84;84;73;84	.	ENSP00000296595:H84Y	H	-	1	0	TMEM161B	87557381	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.307000	0.96226	2.504000	0.84457	0.467000	0.42956	CAT	TMEM161B	-	pfam_Transmembrane_161A/B		0.303	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	G	NM_153354		87521625	-1	no_errors	ENST00000296595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87521625	G	A	87521625	3	1	108	1	0	0	0	0	1	0	0	0	16107	1290	45	1	1249	1	TMEM161B	5	87521625	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	8490346	87521625	93393635	55	16085										
UQCRQ	27089	genome.wustl.edu	37	chr5	132203226	132203226	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	acatgggggactgaagagttCgagagatccaagaggaagaa	15	5	0	5			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:132203226C>T	ENST00000378670.3	+	3	342	c.201C>T	c.(199-201)ttC>ttT	p.F67F	GDF9_ENST00000296875.2_5'Flank|UQCRQ_ENST00000378665.1_Silent_p.F67F|GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000378673.2_5'Flank|UQCRQ_ENST00000496429.1_3'UTR|UQCRQ_ENST00000378667.1_Silent_p.F67F	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	67					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAAGAGTTCGAGAGATCCA	0.403																																																	0													83	82	82					5																	132203226		2203	4300	6503	SO:0001819	synonymous_variant	27089			BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	29594	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VII", "complex III subunit 8"	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.201C>T	5.37:g.132203226C>T			Q5FVE2|Q9BV88|Q9T2V7	Silent	SNP	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8	p.F67	ENST00000378670.3	37	c.201	CCDS34237.1	5																																																																																			UQCRQ	-	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8		0.403	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRQ	HGNC	protein_coding	OTTHUMT00000133040.1	C	NM_014402		132203226	1	no_errors	ENST00000378665	ensembl	human	known	70_37	silent	SNP	0.991	T	T	132203226	C	T	132203226	2	4	108	1	0	0	0	0	0	0	0	1	17055	883	31	1		1	UQCRQ	5	132203226	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	44681601	132203226	48712034	56	16086										
PKD2L2	27039	genome.wustl.edu	37	chr5	137235254	137235254	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccccttggcactggggatttCttggtgtttaccgaaatggg	13	9	1	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:137235254C>G	ENST00000508883.1	+	5	600	c.574C>G	c.(574-576)Ctt>Gtt	p.L192V	PKD2L2_ENST00000350250.4_Missense_Mutation_p.L158V|PKD2L2_ENST00000502810.1_Missense_Mutation_p.L192V|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L192V|PKD2L2_ENST00000508638.1_Missense_Mutation_p.L192V			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	192					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGGGATTTCTTGGTGTTTA	0.388																																																	0													126	115	118					5																	137235254		1828	4086	5914	SO:0001583	missense	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.574C>G	5.37:g.137235254C>G	ENSP00000424725:p.Leu192Val		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.L192V	ENST00000508883.1	37	c.574		5	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457356	0.12342	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.37	-2.17	0.07059	Polycystin cation channel, PKD1/PKD2 (1);	0.218066	0.31709	N	0.007193	T	0.39655	0.1086	N	0.03917	-0.325	0.09310	N	1	B;B;B	0.15141	0.001;0.012;0.0	B;B;B	0.14578	0.006;0.011;0.001	T	0.18304	-1.0341	10	0.23302	T	0.38	-1.2474	1.9424	0.03349	0.3792:0.2223:0.2918:0.1067	.	192;192;192	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	V	102;158;192;192;192;192	ENSP00000424885:L102V;ENSP00000344177:L158V;ENSP00000423382:L192V;ENSP00000425513:L192V;ENSP00000424725:L192V;ENSP00000290431:L192V	ENSP00000290431:L192V	L	+	1	0	PKD2L2	137263153	0.000000	0.05858	0.722000	0.30670	0.990000	0.78478	-0.596000	0.05720	-0.435000	0.07264	-0.165000	0.13383	CTT	PKD2L2	-	pfam_PKD1_2_channel		0.388	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	C	NM_014386		137235254	1	no_errors	ENST00000508883	ensembl	human	known	70_37	missense	SNP	0.009	G	G	137235254	C	G	137235254	3	3	108	1	0	0	0	0	1	0	0	0	11992	913	32	1	592	1	PKD2L2	5	137235254	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	5032028	137235254	43680006	57	16087										
ANKHD1	54882	genome.wustl.edu	37	chr5	139892455	139892455	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atttggtaaaggaagtaaatCagttcccttctgatatagaa	8	5	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:139892455C>G	ENST00000360839.2	+	23	4301	c.4147C>G	c.(4147-4149)Cag>Gag	p.Q1383E	ANKHD1_ENST00000297183.6_Missense_Mutation_p.Q1383E|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Q1383E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1383						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGTAAATCAGTTCCCTTC	0.303																																																	0													123	130	128					5																	139892455		2203	4299	6502	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4147C>G	5.37:g.139892455C>G	ENSP00000354085:p.Gln1383Glu		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q1383E	ENST00000360839.2	37	c.4147	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829221|3.829221	0.71258|0.71258	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000431508;ENST00000532219	.|T;T;T;T;T;T	.|0.68331	.|-0.29;-0.32;-0.14;-0.21;1.05;-0.32	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77170|0.77170	0.4091|0.4091	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D;D	.|0.60160	.|0.977;0.933;0.987;0.969;0.985;0.963	.|D;P;D;D;D;D	.|0.73708	.|0.974;0.869;0.97;0.93;0.981;0.973	T|T	0.76727|0.76727	-0.2853|-0.2853	5|10	.|0.48119	.|T	.|0.1	.|.	19.1644|19.1644	0.93548|0.93548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1383;594;1383;1402;1383;1383	.|E9PF56;E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	M|E	608|1383;1416;1383;1383;917;594;1402;536;39;1383	.|ENSP00000354085:Q1383E;ENSP00000297183:Q1383E;ENSP00000394489:Q1402E;ENSP00000405602:Q536E;ENSP00000393204:Q39E;ENSP00000432016:Q1383E	.|ENSP00000432016:Q1383E	I|Q	+|+	3|1	3|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139872639|139872639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.776000|7.776000	0.85560|0.85560	2.606000|2.606000	0.88127|0.88127	0.558000|0.558000	0.71614|0.71614	ATC|CAG	ANKHD1	-	smart_Ankyrin_rpt		0.303	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139892455	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139892455	C	G	139892455	3	3	108	1	0	0	0	0	1	0	0	0	628	827	29	1	4343	1	ANKHD1	5	139892455	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	2657201	139892455	41022805	58	16088										
PCDHA1	56147	genome.wustl.edu	37	chr5	140167975	140167975	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtggatgtcaacgtgtacctGatcatcgccatctgcgcggt	12	11	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:140167975G>C	ENST00000504120.2	+	1	2100	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	PCDHA1_ENST00000378133.3_Silent_p.L700L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	700					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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.667																																																	0													59	57	58					5																	140167975		2203	4297	6500	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2100G>C	5.37:g.140167975G>C			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L700	ENST00000504120.2	37	c.2100	CCDS54913.1	5																																																																																			PCDHA1	-	NULL		0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	G	NM_018900		140167975	1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	1.000	C	C	140167975	G	C	140167975	2	2	108	1	0	0	0	0	0	0	0	1	11543	1277	45	1		1	PCDHA1	5	140167975	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	275520	140167975	40747285	59	16089										
PCDHB12	56124	genome.wustl.edu	37	chr5	140589898	140589898	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gccctgcacatcggcagcatCagcgccacagacagagactc	10	16	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:140589898C>T	ENST00000239450.2	+	1	1608	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	PCDHB12_ENST00000541609.1_Silent_p.I136I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	473	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCAGCATCAGCGCCACAG	0.647																																																	0													90	88	89					5																	140589898		2203	4298	6501	SO:0001819	synonymous_variant	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1419C>T	5.37:g.140589898C>T			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I473	ENST00000239450.2	37	c.1419	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.647	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140589898	1	no_errors	ENST00000239450	ensembl	human	known	70_37	silent	SNP	0.243	T	T	140589898	C	T	140589898	2	4	108	1	0	0	0	0	0	0	0	1	11561	816	29	1		1	PCDHB12	5	140589898	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	421923	140589898	40325362	60	16090										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720582	140720582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tgggcagcctcgagccctccGccatacccaacgattcggac	10	17	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:140720582G>A	ENST00000394576.2	+	1	2044	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCCCTCCGCCATACCCAA	0.682																																																	0													95	103	100					5																	140720582		2203	4299	6502	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2044G>A	5.37:g.140720582G>A	ENSP00000378077:p.Ala682Thr		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A682T	ENST00000394576.2	37	c.2044	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	9.432	1.085832	0.20390	.	.	ENSG00000081853	ENST00000394576	T	0.50001	0.76	5.05	-3.3	0.05003	Cadherin (1);	0.398311	0.17607	U	0.168221	T	0.24005	0.0581	N	0.22421	0.69	0.09310	N	1	B;B	0.20988	0.01;0.05	B;B	0.12837	0.008;0.006	T	0.23547	-1.0185	10	0.14252	T	0.57	.	7.5144	0.27592	0.3332:0.4806:0.1863:0.0	.	682;682	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	682	ENSP00000378077:A682T	ENSP00000378077:A682T	A	+	1	0	PCDHGA2	140700766	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.683000	0.00394	-0.531000	0.06340	-0.350000	0.07774	GCC	PCDHGA2	-	pfscan_Cadherin		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720582	1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.000	A	A	140720582	G	A	140720582	3	1	108	1	0	0	0	0	1	0	0	0	11578	1087	38	2	2046	2	PCDHGA2	5	140720582	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	130684	140720582	40194678	61	16091										
PCDH12	51294	genome.wustl.edu	37	chr5	141334932	141334932	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cggtgctccctggttgccttGattacgcagcgtcctgtaca	11	13	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:141334932G>C	ENST00000231484.3	-	1	3695	c.2485C>G	c.(2485-2487)Caa>Gaa	p.Q829E	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	829					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGCCTTGATTACGCAGC	0.617																																																	0													67	62	64					5																	141334932		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2485C>G	5.37:g.141334932G>C	ENSP00000231484:p.Gln829Glu		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q829E	ENST00000231484.3	37	c.2485	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465705	0.43839	.	.	ENSG00000113555	ENST00000231484	T	0.53206	0.63	5.07	5.07	0.68467	.	0.133684	0.52532	D	0.000073	T	0.50137	0.1598	M	0.66939	2.045	0.41859	D	0.990219	P	0.46656	0.882	B	0.43701	0.428	T	0.55042	-0.8202	10	0.49607	T	0.09	.	13.8159	0.63292	0.0:0.0:1.0:0.0	.	829	Q9NPG4	PCD12_HUMAN	E	829	ENSP00000231484:Q829E	ENSP00000231484:Q829E	Q	-	1	0	PCDH12	141315116	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	3.260000	0.51523	2.653000	0.90120	0.561000	0.74099	CAA	PCDH12	-	NULL		0.617	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	G	NM_016580		141334932	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141334932	G	C	141334932	3	2	108	1	0	0	0	0	1	0	0	0	11534	1299	45	1	1085	1	PCDH12	5	141334932	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	614350	141334932	39580328	62	16092										
PPARGC1B	133522	genome.wustl.edu	37	chr5	149212372	149212372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtccccggctccctgccaagGaggacaaggagccgggtgag	16	13	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:149212372G>A	ENST00000309241.5	+	5	768	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E246K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E182K|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E207K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	246					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCTGCCAAGGAGGACAAGGA	0.672																																																	0													40	48	45					5																	149212372		2203	4299	6502	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.736G>A	5.37:g.149212372G>A	ENSP00000312649:p.Glu246Lys		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E246K	ENST00000309241.5	37	c.736	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	G	18.12	3.551960	0.65311	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.09817	3.01;2.94;2.96;3.01	5.76	5.76	0.90799	.	0.258172	0.35349	N	0.003267	T	0.16257	0.0391	L	0.59436	1.845	0.49582	D	0.999808	B;B;B;B;B	0.24368	0.021;0.096;0.021;0.012;0.102	B;B;B;B;B	0.27380	0.021;0.062;0.021;0.009;0.079	T	0.04737	-1.0930	10	0.25106	T	0.35	-28.4919	19.9759	0.97304	0.0:0.0:1.0:0.0	.	225;225;207;246;246	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	K	207;246;246;182	ENSP00000353638:E207K;ENSP00000377855:E246K;ENSP00000312649:E246K;ENSP00000384403:E182K	ENSP00000312649:E246K	E	+	1	0	PPARGC1B	149192565	1.000000	0.71417	0.999000	0.59377	0.640000	0.38277	3.458000	0.53014	2.713000	0.92767	0.655000	0.94253	GAG	PPARGC1B	-	NULL		0.672	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	G	NM_133263		149212372	1	no_errors	ENST00000309241	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149212372	G	A	149212372	3	1	108	1	0	0	0	0	1	0	0	0	12325	1175	41	1	761	1	PPARGC1B	5	149212372	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	7877440	149212372	31702888	63	16093										
GABRA6	2559	genome.wustl.edu	37	chr5	161128681	161128681	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtaaaatagaccagtattctCgaattctcttcccagttgca	6	10	2	1	rs372922965		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr5:161128681C>T	ENST00000274545.5	+	9	1697	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	GABRA6_ENST00000523217.1_Nonsense_Mutation_p.R412*			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	422					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGTATTCTCGAATTCTCTT	0.458										TCGA Ovarian(5;0.080)																																							0								C	stop/ARG	0,4406		0,0,2203	132	119	123		1264	4.2	1	5		123	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GABRA6	NM_000811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		422/454	161128681	1,13005	2203	4300	6503	SO:0001587	stop_gained	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1264C>T	5.37:g.161128681C>T	ENSP00000274545:p.Arg422*		A8K096|Q4VAV2	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R422*	ENST00000274545.5	37	c.1264	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.800112	0.97849	0.0	1.16E-4	ENSG00000145863	ENST00000274545;ENST00000523217	.	.	.	5.16	4.16	0.48862	.	0.105878	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8411	0.46715	0.4108:0.5892:0.0:0.0	.	.	.	.	X	422;412	.	ENSP00000274545:R422X	R	+	1	2	GABRA6	161061259	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.664000	0.46783	2.571000	0.86741	0.655000	0.94253	CGA	GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt		0.458	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	C			161128681	1	no_errors	ENST00000274545	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	161128681	C	T	161128681	4	4	108	1	0	0	0	0	0	1	0	0	6183	876	31	1	1298	1	GABRA6	5	161128681	Nonsense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	11916309	161128681	19786579	64	16094										
TNXB	7148	genome.wustl.edu	37	chr6	32065757	32065757	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggcaggttaatgcggtgggtGaataccacctgcttctcccc	12	12	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:32065757G>A	ENST00000479795.1	-	2	359	c.219C>T	c.(217-219)ttC>ttT	p.F73F	TNXB_ENST00000375247.2_Silent_p.F73F|TNXB_ENST00000375244.3_Silent_p.F73F			P22105	TENX_HUMAN	tenascin XB	73					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCGGTGGGTGAATACCACCT	0.642																																																	0													28	31	30					6																	32065757		1927	4104	6031	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.219C>T	6.37:g.32065757G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.F73	ENST00000479795.1	37	c.219		6																																																																																			TNXB	-	NULL		0.642	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	G	NM_019105		32065757	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32065757	G	A	32065757	2	1	108	1	0	0	0	0	0	0	0	1	16376	1281	45	1		1	TNXB	6	32065757	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		32065757	139049310	65	16095										
GPR116	221395	genome.wustl.edu	37	chr6	46851983	46851983	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cctgtctcgcaggagcaccaGatttcatttccagcaggtct	9	13	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:46851983G>C	ENST00000283296.7	-	5	642	c.354C>G	c.(352-354)atC>atG	p.I118M	GPR116_ENST00000362015.4_Missense_Mutation_p.I118M|GPR116_ENST00000456426.2_Missense_Mutation_p.I118M|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000265417.7_Missense_Mutation_p.I118M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	118					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGGAGCACCAGATTTCATTTC	0.498																																					NSCLC(59;410 1274 8751 36715 50546)												0													110	98	102					6																	46851983		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.354C>G	6.37:g.46851983G>C	ENSP00000283296:p.Ile118Met		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.I118M	ENST00000283296.7	37	c.354	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	6.175	0.400470	0.11696	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.26518	1.73;2.11;1.73;1.73	5.41	2.27	0.28462	.	0.727233	0.12423	N	0.470250	T	0.07369	0.0186	L	0.41236	1.265	0.09310	N	0.999998	B;B;B	0.17465	0.022;0.006;0.022	B;B;B	0.11329	0.004;0.006;0.004	T	0.33085	-0.9882	10	0.34782	T	0.22	-5.9342	7.0486	0.25061	0.1021:0.3258:0.5721:0.0	.	118;118;118	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	M	118	ENSP00000283296:I118M;ENSP00000354563:I118M;ENSP00000412866:I118M;ENSP00000265417:I118M	ENSP00000265417:I118M	I	-	3	3	GPR116	46959942	0.300000	0.24435	0.626000	0.29213	0.282000	0.26991	0.041000	0.13927	0.664000	0.31047	0.655000	0.94253	ATC	GPR116	-	NULL		0.498	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	G	NM_015234		46851983	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.150	C	C	46851983	G	C	46851983	3	2	108	1	0	0	0	0	1	0	0	0	6652	932	33	1	3754	1	GPR116	6	46851983	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	14786226	46851983	124263084	66	16096										
ELOVL4	6785	genome.wustl.edu	37	chr6	80626468	80626468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cttaggctctttgtatgtccGaatgtagaagttaagaaaga	10	5	1	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:80626468G>A	ENST00000369816.4	-	6	1102	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	268					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TTGTATGTCCGAATGTAGAAG	0.403																																																	0													106	97	100					6																	80626468		2203	4300	6503	SO:0001583	missense	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.802C>T	6.37:g.80626468G>A	ENSP00000358831:p.Arg268Trp		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.R268W	ENST00000369816.4	37	c.802	CCDS4992.1	6	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765481	0.69878	.	.	ENSG00000118402	ENST00000369816	T	0.24723	1.84	5.95	5.06	0.68205	.	0.266403	0.44902	D	0.000410	T	0.42832	0.1220	M	0.82323	2.585	0.52501	D	0.999953	D	0.69078	0.997	P	0.62382	0.901	T	0.53947	-0.8366	10	0.87932	D	0	-32.048	15.4346	0.75137	0.0:0.0:0.8601:0.1399	.	268	Q9GZR5	ELOV4_HUMAN	W	268	ENSP00000358831:R268W	ENSP00000358831:R268W	R	-	1	2	ELOVL4	80683187	1.000000	0.71417	0.899000	0.35326	0.970000	0.65996	8.000000	0.88501	1.485000	0.48380	0.650000	0.86243	CGG	ELOVL4	-	pfam_GNS1_SUR4		0.403	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	G			80626468	-1	no_errors	ENST00000369816	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80626468	G	A	80626468	3	1	108	1	0	0	0	0	1	0	0	0	5088	1057	37	1	146	1	ELOVL4	6	80626468	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	33774485	80626468	90488599	67	16097										
LAMA2	3908	genome.wustl.edu	37	chr6	129636636	129636636	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tgcaggtgactctgaaggctGagcagaccattctacccctg	11	12	2	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:129636636G>T	ENST00000421865.2	+	25	3620	c.3571G>T	c.(3571-3573)Gag>Tag	p.E1191*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1191	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463																																																	0													94	90	91					6																	129636636		2203	4300	6503	SO:0001587	stop_gained	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3571G>T	6.37:g.129636636G>T	ENSP00000400365:p.Glu1191*		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1191*	ENST00000421865.2	37	c.3571	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.739430	0.99252	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.87	2.06	0.26882	.	0.314304	0.33631	N	0.004717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.9079	0.35535	0.1226:0.2301:0.6473:0.0	.	.	.	.	X	1191	.	ENSP00000346769:E1191X	E	+	1	0	LAMA2	129678329	1.000000	0.71417	0.185000	0.23176	0.961000	0.63080	4.547000	0.60712	0.162000	0.19483	0.655000	0.94253	GAG	LAMA2	-	pfscan_Laminin_B_type_IV		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129636636	1	no_errors	ENST00000421865	ensembl	human	known	70_37	nonsense	SNP	0.978	T	T	129636636	G	T	129636636	4	4	108	1	0	0	0	0	0	1	0	0	8626	1291	45	3	3669	3	LAMA2	6	129636636	Nonsense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	49010168	129636636	41478431	68	16098										
ZBTB2	57621	genome.wustl.edu	37	chr6	151687696	151687696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tgaggcctcagggacctgctCctggcttatcctggaggtct	13	12	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:151687696C>T	ENST00000325144.4	-	3	645	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGGACCTGCTCCTGGCTTATC	0.552																																																	0													86	89	88					6																	151687696		2203	4300	6503	SO:0001583	missense	57621			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.505G>A	6.37:g.151687696C>T	ENSP00000323183:p.Glu169Lys		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E169K	ENST00000325144.4	37	c.505	CCDS5231.1	6	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488386	0.12641	.	.	ENSG00000181472	ENST00000325144	T	0.05025	3.51	5.26	5.26	0.73747	.	0.347447	0.33834	N	0.004508	T	0.02012	0.0063	L	0.27053	0.805	0.52501	D	0.999952	P	0.37781	0.608	B	0.24701	0.055	T	0.56811	-0.7917	10	0.18710	T	0.47	-29.7986	18.8721	0.92319	0.0:1.0:0.0:0.0	.	169	Q8N680	ZBTB2_HUMAN	K	169	ENSP00000323183:E169K	ENSP00000323183:E169K	E	-	1	0	ZBTB2	151729389	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.328000	0.65887	2.451000	0.82905	0.561000	0.74099	GAG	ZBTB2	-	NULL		0.552	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	HGNC	protein_coding	OTTHUMT00000042715.1	C	NM_020861		151687696	-1	no_errors	ENST00000325144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151687696	C	T	151687696	3	4	108	1	0	0	0	0	1	0	0	0	17558	864	30	1	1043	1	ZBTB2	6	151687696	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	22051060	151687696	19427371	69	16099										
EZR	7430	genome.wustl.edu	37	chr6	159190392	159190392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cttcaacttcatcctccttgCgcctccgcgcctcttccagg	6	19	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:159190392C>T	ENST00000367075.3	-	12	1478	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	EZR_ENST00000337147.7_Missense_Mutation_p.R437H|EZR_ENST00000392177.4_Missense_Mutation_p.R405H	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	437	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ATCCTCCTTGCGCCTCCGCGC	0.602			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													81	69	73					6																	159190392		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1310G>A	6.37:g.159190392C>T	ENSP00000356042:p.Arg437His		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.R437H	ENST00000367075.3	37	c.1310	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463712	0.84425	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83591	-1.74;-1.74;-1.74	5.08	4.15	0.48705	Ezrin/radixin/moesin, C-terminal (1);	0.107097	0.64402	D	0.000005	T	0.82121	0.4968	L	0.59436	1.845	0.54753	D	0.999987	P;P	0.46064	0.792;0.872	P;P	0.55161	0.505;0.77	D	0.83818	0.0245	10	0.62326	D	0.03	.	10.1785	0.42952	0.1524:0.7003:0.1473:0.0	.	405;437	E7EQR4;P15311	.;EZRI_HUMAN	H	437;437;405	ENSP00000338934:R437H;ENSP00000356042:R437H;ENSP00000376016:R405H	ENSP00000338934:R437H	R	-	2	0	EZR	159110380	0.920000	0.31207	0.998000	0.56505	0.991000	0.79684	0.856000	0.27818	2.372000	0.80975	0.561000	0.74099	CGC	EZR	-	pirsf_ERM,pfam_ERM_C		0.602	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159190392	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159190392	C	T	159190392	3	4	108	1	0	0	0	0	1	0	0	0	5347	768	27	2	462	2	EZR	6	159190392	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	7502696	159190392	11924675	70	16100										
TCP10	6953	genome.wustl.edu	37	chr6	167789501	167789501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cctgcagcgtggtggcctggGaagcctgcactggtgatttt	15	10	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr6:167789501G>A	ENST00000397829.4	-	6	808	c.641C>T	c.(640-642)tCc>tTc	p.S214F	TCP10_ENST00000366827.2_Missense_Mutation_p.S214F	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	241						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGTGGCCTGGGAAGCCTGCAC	0.587																																																	0													29	33	32					6																	167789501		1976	4170	6146	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.641C>T	6.37:g.167789501G>A	ENSP00000380929:p.Ser214Phe		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.S214F	ENST00000397829.4	37	c.641	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400714	0.42613	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.17691	2.26;2.26	1.65	0.703	0.18116	.	.	.	.	.	T	0.08044	0.0201	L	0.39898	1.24	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.50231	0.635;0.635	T	0.14476	-1.0471	9	0.87932	D	0	.	5.0669	0.14587	0.0:0.0:0.6506:0.3494	.	241;241	Q12799;Q12799-2	TCP10_HUMAN;.	F	214	ENSP00000355792:S214F;ENSP00000380929:S214F	ENSP00000355792:S214F	S	-	2	0	TCP10	167709491	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-0.251000	0.08818	0.232000	0.21100	0.306000	0.20318	TCC	TCP10	-	NULL		0.587	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	G	NM_004610		167789501	-1	no_errors	ENST00000397829	ensembl	human	known	70_37	missense	SNP	0.000	A	A	167789501	G	A	167789501	3	1	108	1	0	0	0	0	1	0	0	0	15740	1174	41	1	351	1	TCP10	6	167789501	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	8599109	167789501	3325566	71	16101										
DNAH11	8701	genome.wustl.edu	37	chr7	21639599	21639599	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atgatcttgttgcctcctgaGattgtgtttaaaccttccct	7	10	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:21639599G>A	ENST00000409508.3	+	15	2893	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	DNAH11_ENST00000328843.6_Silent_p.E954E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	954	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCCTCCTGAGATTGTGTTTA	0.403									Kartagener syndrome																																								0													79	75	76					7																	21639599		1847	4092	5939	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2862G>A	7.37:g.21639599G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E954	ENST00000409508.3	37	c.2862		7																																																																																			DNAH11	-	NULL		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21639599	1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21639599	G	A	21639599	2	1	108	1	0	0	0	0	0	0	0	1	4609	933	33	1		1	DNAH11	7	21639599	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		21639599	137499064	72	16102										
WIPF3	644150	genome.wustl.edu	37	chr7	29923612	29923612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctgccaggacagccccgcctCgccccaacgtgcctgccccg	10	22	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:29923612C>T	ENST00000409290.1	+	4	502	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	WIPF3_ENST00000409123.1_Missense_Mutation_p.R168C|WIPF3_ENST00000242140.5_Missense_Mutation_p.R168C	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	168					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGccccgcctcgccccaacgt	0.687																																																	0													2	2	2					7																	29923612		1086	2779	3865	SO:0001583	missense	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.502C>T	7.37:g.29923612C>T	ENSP00000386878:p.Arg168Cys		B8ZZV2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R168C	ENST00000409290.1	37	c.502	CCDS56472.1	7	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809076	0.31961	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.52983	0.64;0.65;0.64	4.03	4.03	0.46877	.	0.484707	0.17119	N	0.186321	T	0.55000	0.1893	M	0.71036	2.16	0.42217	D	0.991838	D	0.76494	0.999	P	0.50082	0.63	T	0.61744	-0.7000	10	0.62326	D	0.03	.	11.8397	0.52346	0.0:1.0:0.0:0.0	.	168	A6NGB9	WIPF3_HUMAN	C	168	ENSP00000386790:R168C;ENSP00000386878:R168C;ENSP00000242140:R168C	ENSP00000242140:R168C	R	+	1	0	WIPF3	29890137	0.996000	0.38824	0.995000	0.50966	0.122000	0.20287	3.519000	0.53458	2.230000	0.72887	0.549000	0.68633	CGC	WIPF3	-	NULL		0.687	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	WIPF3	HGNC	protein_coding	OTTHUMT00000327705.1	C			29923612	1	no_errors	ENST00000242140	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29923612	C	T	29923612	3	4	108	1	0	0	0	0	1	0	0	0	17400	884	31	1	516	1	WIPF3	7	29923612	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	8284013	29923612	129215051	73	16103										
INHBA	3624	genome.wustl.edu	37	chr7	41730110	41730110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggtcactgccttccttggaaAtctcgaagtgcagcgtcttc	10	12	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:41730110A>G	ENST00000242208.4	-	3	665	c.419T>C	c.(418-420)aTt>aCt	p.I140T	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.I140T|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	140					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTCCTTGGAAATCTCGAAGTG	0.493										TSP Lung(11;0.080)																																							0													52	48	49					7																	41730110		2203	4300	6503	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.419T>C	7.37:g.41730110A>G	ENSP00000242208:p.Ile140Thr		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.I140T	ENST00000242208.4	37	c.419	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	22.0	4.227577	0.79576	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66815	-0.23;-0.23	6.06	4.9	0.64082	Transforming growth factor-beta, N-terminal (1);	0.105460	0.64402	D	0.000005	T	0.76463	0.3991	M	0.68317	2.08	0.58432	D	0.999996	D	0.61697	0.99	P	0.60236	0.871	T	0.76699	-0.2863	10	0.48119	T	0.1	-10.4421	12.7326	0.57206	0.8767:0.0:0.0:0.1233	.	140	P08476	INHBA_HUMAN	T	140	ENSP00000242208:I140T;ENSP00000397197:I140T	ENSP00000242208:I140T	I	-	2	0	INHBA	41696635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.226000	0.95229	1.095000	0.41419	0.533000	0.62120	ATT	INHBA	-	pfam_TGF-b_N		0.493	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	A			41730110	-1	no_errors	ENST00000242208	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41730110	A	G	41730110	3	3	108	1	0	0	0	0	1	0	0	0	7761	101	4	5	865	5	INHBA	7	41730110	Missense_Mutation	SNP	A	TCGA-EK-A2RD-01A-12D-A20U-09	11806498	41730110	117408553	74	16104										
ANKIB1	54467	genome.wustl.edu	37	chr7	91936869	91936869	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aatggaaaggagcaaaacttGaccagggtgaatatgagaga	13	4	0	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:91936869G>C	ENST00000265742.3	+	3	761	c.385G>C	c.(385-387)Gac>Cac	p.D129H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	129							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCAAAACTTGACCAGGGTGA	0.458																																																	0													90	88	89					7																	91936869		1916	4124	6040	SO:0001583	missense	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.385G>C	7.37:g.91936869G>C	ENSP00000265742:p.Asp129His		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.D129H	ENST00000265742.3	37	c.385	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355822	0.82243	.	.	ENSG00000001629	ENST00000265742;ENST00000442183	T;T	0.56444	0.46;1.28	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.048483	0.85682	D	0.000000	T	0.68146	0.2969	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	P	0.61722	0.893	T	0.69420	-0.5150	10	0.87932	D	0	.	19.8516	0.96743	0.0:0.0:1.0:0.0	.	129	Q9P2G1	AKIB1_HUMAN	H	129	ENSP00000265742:D129H;ENSP00000407002:D129H	ENSP00000265742:D129H	D	+	1	0	ANKIB1	91774805	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.685000	0.91497	0.585000	0.79938	GAC	ANKIB1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.458	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	HGNC	protein_coding	OTTHUMT00000342018.1	G			91936869	1	no_errors	ENST00000265742	ensembl	human	known	70_37	missense	SNP	1.000	C	C	91936869	G	C	91936869	3	2	108	1	0	0	0	0	1	0	0	0	630	1290	45	1	391	1	ANKIB1	7	91936869	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	50206759	91936869	67201794	75	16105										
TRRAP	8295	genome.wustl.edu	37	chr7	98497090	98497090	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tttctctgaaagtgttggcaGaattgcccattattgttgtt	9	6	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:98497090G>A	ENST00000359863.4	+	9	888	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E227K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E227K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	227					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGTGTTGGCAGAATTGCCCAT	0.423																																																	0													186	179	181					7																	98497090		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.679G>A	7.37:g.98497090G>A	ENSP00000352925:p.Glu227Lys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E227K	ENST00000359863.4	37	c.679	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752320	0.89753	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.15372	2.43;2.47	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	M	0.93678	3.445	0.80722	D	1	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.66329	-0.5951	10	0.72032	D	0.01	.	19.3377	0.94326	0.0:0.0:1.0:0.0	.	227;227	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	K	227	ENSP00000352925:E227K;ENSP00000347733:E227K	ENSP00000347733:E227K	E	+	1	0	TRRAP	98335026	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.709000	0.98729	2.643000	0.89663	0.462000	0.41574	GAA	TRRAP	-	superfamily_ARM-type_fold		0.423	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98497090	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98497090	G	A	98497090	3	1	108	1	0	0	0	0	1	0	0	0	16632	943	33	1	709	1	TRRAP	7	98497090	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	6560221	98497090	60641573	76	16106										
GPC2	221914	genome.wustl.edu	37	chr7	99767912	99767912	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aatgaggatggtttgggtgtGaaaaccaatagatgcccccc	12	8	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:99767912G>A	ENST00000292377.2	-	10	1848	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	GAL3ST4_ENST00000482469.1_5'Flank|GAL3ST4_ENST00000360039.4_5'Flank|GAL3ST4_ENST00000423751.1_5'Flank|GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	561					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTTGGGTGTGAAAACCAATA	0.602																																																	0													65	50	55					7																	99767912		2200	4298	6498	SO:0001583	missense	221914			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.1681C>T	7.37:g.99767912G>A	ENSP00000292377:p.His561Tyr		A4D2A7	Missense_Mutation	SNP	pfam_Glypican	p.H561Y	ENST00000292377.2	37	c.1681	CCDS5689.1	7	.	.	.	.	.	.	.	.	.	.	G	6.752	0.507641	0.12883	.	.	ENSG00000213420	ENST00000292377	T	0.38401	1.14	4.77	3.89	0.44902	.	0.456782	0.23600	N	0.046441	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B	0.25351	0.124	B	0.34346	0.18	T	0.21793	-1.0235	10	0.33940	T	0.23	-18.551	9.0609	0.36433	0.1004:0.0:0.8996:0.0	.	561	Q8N158	GPC2_HUMAN	Y	561	ENSP00000292377:H561Y	ENSP00000292377:H561Y	H	-	1	0	GPC2	99605848	0.992000	0.36948	0.014000	0.15608	0.035000	0.12851	5.277000	0.65586	1.381000	0.46364	0.561000	0.74099	CAC	GPC2	-	NULL		0.602	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	G	NM_152742		99767912	-1	no_errors	ENST00000292377	ensembl	human	known	70_37	missense	SNP	0.034	A	A	99767912	G	A	99767912	3	1	108	1	0	0	0	0	1	0	0	0	6617	1290	45	1	62	1	GPC2	7	99767912	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	1270822	99767912	59370751	77	16107										
C7orf51	222950	genome.wustl.edu	37	chr7	100088718	100088718	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cccagggatgccctgagccaGgtgaggcttggtttttcttt	13	10	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:100088718G>A	ENST00000300179.2	+	6	2427	c.2268G>A	c.(2266-2268)caG>caA	p.Q756Q	NYAP1_ENST00000454988.1_Splice_Site_p.Q700Q|NYAP1_ENST00000423930.1_Splice_Site_p.Q757Q|NYAP1_ENST00000496985.1_3'UTR	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	756					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCTGAGCCAGGTGAGGCTTG	0.612																																																	0													17	19	18					7																	100088718		2158	4223	6381	SO:0001630	splice_region_variant	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.2268+1G>A	7.37:g.100088718G>A			Q6U9Y3|Q8N1V0	Silent	SNP	NULL	p.Q757	ENST00000300179.2	37	c.2271	CCDS5696.1	7																																																																																			NYAP1	-	NULL		0.612	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	G	NM_173564	Silent	100088718	1	no_errors	ENST00000423930	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100088718	G	A	100088718	5	1	108	1	0	0	0	0	0	0	1	0	2405	1014	35	4	2286	4	C7orf51	7	100088718	Splice_Site	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	320806	100088718	59049945	78	16108										
MLL3	58508	genome.wustl.edu	37	chr7	151873963	151873963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tccatcatttaggtctgagtGagcagaagcctgtgagcaag	12	8	2	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr7:151873963G>A	ENST00000262189.6	-	38	8793	c.8575C>T	c.(8575-8577)Cac>Tac	p.H2859Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H2859Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2859					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGTCTGAGTGAGCAGAAGCC	0.398																																																	0													132	128	130					7																	151873963		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8575C>T	7.37:g.151873963G>A	ENSP00000262189:p.His2859Tyr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H2859Y	ENST00000262189.6	37	c.8575	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.476|0.476	-0.881983|-0.881983	0.02530|0.02530	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.83250|.	-1.7;-1.7|.	5.4|5.4	3.44|3.44	0.39384|0.39384	.|.	0.514489|.	0.15932|.	N|.	0.237612|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.28971|.	0.229;0.194;0.086|.	B;B;B|.	0.25759|.	0.063;0.058;0.058|.	T|T	0.17440|0.17440	-1.0369|-1.0369	10|5	0.59425|.	D|.	0.04|.	.|.	6.7013|6.7013	0.23227|0.23227	0.0:0.2887:0.5534:0.1579|0.0:0.2887:0.5534:0.1579	.|.	2859;1920;2859|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	Y|L	2859|364	ENSP00000262189:H2859Y;ENSP00000347325:H2859Y|.	ENSP00000262189:H2859Y|.	H|S	-|-	1|2	0|0	MLL3|MLL3	151504896|151504896	0.035000|0.035000	0.19736|0.19736	0.034000|0.034000	0.17996|0.17996	0.290000|0.290000	0.27261|0.27261	1.600000|1.600000	0.36762|0.36762	1.187000|1.187000	0.43000|0.43000	0.650000|0.650000	0.86243|0.86243	CAC|TCA	MLL3	-	NULL		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151873963	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.001	A	A	151873963	G	A	151873963	3	1	108	1	0	0	0	0	1	0	0	0	9645	1290	45	1	6248	1	MLL3	7	151873963	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	51785245	151873963	7264700	79	16109										
DEFB134	613211	genome.wustl.edu	37	chr8	11851600	11851600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atgccatttttatagcatttCttgtgcatttctgatgataa	6	6	2	2	rs372085598		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:11851600C>G	ENST00000526438.1	-	2	150	c.90G>C	c.(88-90)aaG>aaC	p.K30N	DEFB134_ENST00000382205.4_Missense_Mutation_p.K30N	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	30					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		TATAGCATTTCTTGTGCATTT	0.368																																																	0								C	ASN/LYS	0,4406		0,0,2203	114	110	111		90	1.4	0	8		111	2,8598	2.2+/-6.3	0,2,4298	no	missense	DEFB134	NM_001033019.1	94	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	30/67	11851600	2,13004	2203	4300	6503	SO:0001583	missense	613211			AY621331, DQ012024	CCDS34847.1	8p23.1	2010-04-15			ENSG00000205882	ENSG00000205882		"Defensins, beta"	32399	protein-coding gene	gene with protein product						16033865	Standard	NM_001033019		Approved		uc011kxn.2	Q4QY38	OTTHUMG00000158718	ENST00000526438.1:c.90G>C	8.37:g.11851600C>G	ENSP00000435010:p.Lys30Asn		A1L4A4	Missense_Mutation	SNP	NULL	p.K30N	ENST00000526438.1	37	c.90	CCDS34847.1	8	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193844	0.22037	0.0	2.33E-4	ENSG00000205882	ENST00000526438;ENST00000382205	.	.	.	3.58	1.44	0.22558	.	0.649838	0.13534	N	0.380720	T	0.25044	0.0608	.	.	.	0.09310	N	1	P	0.44877	0.845	B	0.38655	0.278	T	0.13818	-1.0495	8	0.72032	D	0.01	-9.6939	4.9894	0.14207	0.0:0.6603:0.0:0.3397	.	30	Q4QY38	DB134_HUMAN	N	30;23	.	ENSP00000371640:K23N	K	-	3	2	DEFB134	11889009	0.043000	0.20138	0.001000	0.08648	0.314000	0.28054	-0.164000	0.09983	0.352000	0.24053	0.563000	0.77884	AAG	DEFB134	-	NULL		0.368	DEFB134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB134	HGNC	protein_coding	OTTHUMT00000351887.2	C	NM_001033019		11851600	-1	no_errors	ENST00000526438	ensembl	human	known	70_37	missense	SNP	0.001	G	G	11851600	C	G	11851600	3	3	108	1	0	0	0	0	1	0	0	0	4428	912	32	1	113	1	DEFB134	8	11851600	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		11851600	134512422	80	16110			1	66		2	2	12	C		6.715611e-05
DEFB134	613211	genome.wustl.edu	37	chr8	11851611	11851611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atagcatttcttgtgcatttCtgatgataatgaatttatac	6	5	2	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:11851611C>T	ENST00000526438.1	-	2	139	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DEFB134_ENST00000382205.4_Missense_Mutation_p.E27K	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	27					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		TTGTGCATTTCTGATGATAAT	0.358																																																	0													102	100	101					8																	11851611		2203	4300	6503	SO:0001583	missense	613211			AY621331, DQ012024	CCDS34847.1	8p23.1	2010-04-15			ENSG00000205882	ENSG00000205882		"Defensins, beta"	32399	protein-coding gene	gene with protein product						16033865	Standard	NM_001033019		Approved		uc011kxn.2	Q4QY38	OTTHUMG00000158718	ENST00000526438.1:c.79G>A	8.37:g.11851611C>T	ENSP00000435010:p.Glu27Lys		A1L4A4	Splice_Site	SNP	-	e2-1	ENST00000526438.1	37	c.59-1	CCDS34847.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|C	8.953|8.953	0.968713|0.968713	0.18659|0.18659	.|.	.|.	ENSG00000205882|ENSG00000205882	ENST00000382205|ENST00000526438	.|.	.|.	.|.	3.58|3.58	1.71|1.71	0.24356|0.24356	.|.	.|0.500610	.|0.16893	.|N	.|0.195242	.|T	.|0.24005	.|0.0581	.|.	.|.	.|.	0.21147|0.21147	N|N	0.999777|0.999777	.|P	.|0.43750	.|0.816	.|B	.|0.38264	.|0.269	.|T	.|0.16748	.|-1.0392	.|8	.|0.87932	.|D	.|0	.|-9.2763	4.0269|4.0269	0.09692|0.09692	0.2337:0.6421:0.0:0.1242|0.2337:0.6421:0.0:0.1242	.|.	.|27	.|Q4QY38	.|DB134_HUMAN	.|K	-1|27	.|.	.|ENSP00000435010:E27K	.|E	-|-	.|1	.|0	DEFB134|DEFB134	11889020|11889020	0.015000|0.015000	0.18098|0.18098	0.014000|0.014000	0.15608|0.15608	0.348000|0.348000	0.29142|0.29142	1.054000|1.054000	0.30455|0.30455	0.479000|0.479000	0.27511|0.27511	0.563000|0.563000	0.77884|0.77884	.|GAA	DEFB134	-	-		0.358	DEFB134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB134	HGNC	protein_coding	OTTHUMT00000351887.2	C	NM_001033019		11851611	-1	no_errors	ENST00000382205	ensembl	human	novel	70_37	splice_site	SNP	0.017	T	T	11851611	C	T	11851611	3	4	108	1	0	0	0	0	1	0	0	0	4428	922	32	1	124	1	DEFB134	8	11851611	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	11	11851611	134512411	81	16111			1	66		2	2	12	C		6.715611e-05
PNOC	5368	genome.wustl.edu	37	chr8	28186791	28186791	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cacccagccctggacagcttCgacctggaggtaggtctcca	11	15	1	0	rs368188580		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:28186791C>T	ENST00000301908.3	+	2	325	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	39					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TGGACAGCTTCGACCTGGAGG	0.582																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	111	92	98		117	3.7	0.9	8		98	0,8600		0,0,4300	no	coding-synonymous	PNOC	NM_006228.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		39/177	28186791	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5368				CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.117C>T	8.37:g.28186791C>T			B7Z749|Q6FH16	Silent	SNP	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	p.F39	ENST00000301908.3	37	c.117	CCDS6066.1	8																																																																																			PNOC	-	pfam_Opioid_neupept,prints_Nociceptin		0.582	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNOC	HGNC	protein_coding	OTTHUMT00000219964.2	C	NM_006228		28186791	1	no_errors	ENST00000301908	ensembl	human	known	70_37	silent	SNP	0.893	T	T	28186791	C	T	28186791	2	4	108	1	0	0	0	0	0	0	0	1	12186	883	31	1		1	PNOC	8	28186791	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	16335180	28186791	118177231	82	16112										
ST18	9705	genome.wustl.edu	37	chr8	53126766	53126766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cctgcttgctaactcaccctCggttcctttagagcgagtac	8	14	1	1	rs576240176		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:53126766C>G	ENST00000276480.7	-	7	735	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	18					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACTCACCCTCGGTTCCTTTA	0.468																																																	0													217	171	186					8																	53126766		2203	4300	6503	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.52G>C	8.37:g.53126766C>G	ENSP00000276480:p.Glu18Gln		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E18Q	ENST00000276480.7	37	c.52	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825702	0.32237	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.43294	0.95;0.95	5.49	2.1	0.27182	.	0.367731	0.28382	N	0.015559	T	0.27454	0.0674	L	0.36672	1.1	0.23555	N	0.997421	B	0.02656	0.0	B	0.06405	0.002	T	0.18587	-1.0332	10	0.51188	T	0.08	.	3.7441	0.08541	0.0:0.2302:0.1868:0.5829	.	18	O60284	ST18_HUMAN	Q	18	ENSP00000276480:E18Q;ENSP00000428521:E18Q	ENSP00000276480:E18Q	E	-	1	0	ST18	53289319	1.000000	0.71417	0.267000	0.24556	0.863000	0.49368	4.435000	0.59941	0.197000	0.20387	0.655000	0.94253	GAG	ST18	-	NULL		0.468	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	C			53126766	-1	no_errors	ENST00000276480	ensembl	human	known	70_37	missense	SNP	0.904	G	G	53126766	C	G	53126766	3	3	108	1	0	0	0	0	1	0	0	0	15242	893	31	1	3171	1	ST18	8	53126766	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	24939975	53126766	93237256	83	16113										
MYBL1	4603	genome.wustl.edu	37	chr8	67492379	67492379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tttacttacagattcaataaGttctagagtctctgcaaatt	5	7	3	2	rs372059344		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:67492379G>T	ENST00000522677.3	-	9	1500	c.1090C>A	c.(1090-1092)Ctt>Att	p.L364I	MYBL1_ENST00000524176.2_Missense_Mutation_p.L364I|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	364	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GATTCAATAAGTTCTAGAGTC	0.383																																																	0													46	44	44					8																	67492379		1840	4091	5931	SO:0001583	missense	4603			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1090C>A	8.37:g.67492379G>T	ENSP00000429633:p.Leu364Ile		E7EW29|Q495F9	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L364I	ENST00000522677.3	37	c.1090	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672481	0.88348	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.22743	2.4;1.94	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.55743	1.74	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;P;D	0.76071	0.979;0.708;0.987	T	0.06552	-1.0820	10	0.29301	T	0.29	-13.0196	19.036	0.92978	0.0:0.0:1.0:0.0	.	364;363;364	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	I	364	ENSP00000429633:L364I;ENSP00000428011:L364I	ENSP00000429633:L364I	L	-	1	0	MYBL1	67654933	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.035000	0.93752	2.481000	0.83766	0.655000	0.94253	CTT	MYBL1	-	NULL		0.383	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	HGNC	protein_coding	OTTHUMT00000379221.3	G	XM_034274		67492379	-1	no_errors	ENST00000522677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67492379	G	T	67492379	3	4	108	1	0	0	0	0	1	0	0	0	10032	1029	36	4	1200	4	MYBL1	8	67492379	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	14365613	67492379	78871643	84	16114										
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885044	88885044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gaaacaataaaggtcctcccGgacagccatgagcagccctg	10	13	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:88885044G>A	ENST00000319675.3	-	1	1252	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	386										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGGTCCTCCCGGACAGCCATG	0.547																																																	0													43	48	46					8																	88885044		2203	4300	6503	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1156C>T	8.37:g.88885044G>A	ENSP00000316496:p.Arg386Trp			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R386W	ENST00000319675.3	37	c.1156	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673003	0.47781	.	.	ENSG00000176566	ENST00000319675	T	0.27402	1.67	0.841	-0.124	0.13523	.	0.579100	0.18356	N	0.143715	T	0.32041	0.0816	L	0.51422	1.61	0.20975	N	0.999811	D	0.69078	0.997	P	0.55260	0.772	T	0.17592	-1.0364	10	0.72032	D	0.01	.	1.6881	0.02845	0.2567:0.0:0.414:0.3293	.	386	Q8NA75	DC4L2_HUMAN	W	386	ENSP00000316496:R386W	ENSP00000316496:R386W	R	-	1	2	DCAF4L2	88954160	0.974000	0.33945	0.210000	0.23637	0.403000	0.30841	0.591000	0.23969	-0.076000	0.12775	0.467000	0.42956	CGG	DCAF4L2	-	NULL		0.547	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88885044	-1	no_errors	ENST00000319675	ensembl	human	known	70_37	missense	SNP	0.994	A	A	88885044	G	A	88885044	3	1	108	1	0	0	0	0	1	0	0	0	4277	1115	39	2	35	2	DCAF4L2	8	88885044	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	21392665	88885044	57478978	85	16115										
CSMD3	114788	genome.wustl.edu	37	chr8	114111003	114111003	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	accatatggtaggtggctcaGaaccttctatttctaagtaa	8	8	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:114111003G>A	ENST00000297405.5	-	5	1143	c.899C>T	c.(898-900)tCt>tTt	p.S300F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S300F|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.S260F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S300F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	300	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S300F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTGGCTCAGAACCTTCTAT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											96	97	97					8																	114111003		2203	4299	6502	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.899C>T	8.37:g.114111003G>A	ENSP00000297405:p.Ser300Phe		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S300F	ENST00000297405.5	37	c.899	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153308	0.78114	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.4	4.53	0.55603	CUB (5);	0.000000	0.64402	D	0.000001	D	0.95755	0.8619	M	0.62266	1.93	0.34938	D	0.750077	P;B;D;D	0.89917	0.493;0.001;1.0;0.958	B;B;D;P	0.91635	0.215;0.003;0.999;0.759	D	0.99320	1.0906	10	0.87932	D	0	.	14.4022	0.67056	0.0714:0.0:0.9286:0.0	.	300;300;300;260	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	F	260;300;300;300	ENSP00000345799:S260F;ENSP00000297405:S300F;ENSP00000412263:S300F;ENSP00000343124:S300F	ENSP00000297405:S300F	S	-	2	0	CSMD3	114180179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.752000	0.98900	1.431000	0.47355	-0.142000	0.14014	TCT	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		114111003	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114111003	G	A	114111003	3	1	108	1	0	0	0	0	1	0	0	0	3951	942	33	1	10492	1	CSMD3	8	114111003	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	25225959	114111003	32253019	86	16116										
DENND3	22898	genome.wustl.edu	37	chr8	142176354	142176354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aagagcctcccggaagtcctCgcacctgcatgtcacccaca	8	17	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:142176354C>T	ENST00000262585.2	+	12	1657	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	DENND3_ENST00000519811.1_Missense_Mutation_p.S540L|DENND3_ENST00000424248.1_Missense_Mutation_p.S408L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	460					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGAAGTCCTCGCACCTGCAT	0.552																																																	0													129	139	135					8																	142176354		2203	4300	6503	SO:0001583	missense	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1379C>T	8.37:g.142176354C>T	ENSP00000262585:p.Ser460Leu		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.S460L	ENST00000262585.2	37	c.1379	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150169	0.37923	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.15603	2.82;2.41;2.81	4.94	4.94	0.65067	.	0.437887	0.25762	N	0.028474	T	0.14743	0.0356	L	0.59436	1.845	0.09310	N	1	P;P;P	0.43973	0.729;0.823;0.729	B;B;B	0.33890	0.083;0.172;0.083	T	0.33675	-0.9859	10	0.59425	D	0.04	-11.8227	8.6699	0.34143	0.2373:0.6204:0.1423:0.0	.	540;408;460	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	L	460;408;540	ENSP00000262585:S460L;ENSP00000410594:S408L;ENSP00000428714:S540L	ENSP00000262585:S460L	S	+	2	0	DENND3	142245536	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	0.383000	0.20651	2.436000	0.82500	0.561000	0.74099	TCG	DENND3	-	NULL		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		C	NM_014957		142176354	1	no_errors	ENST00000262585	ensembl	human	known	70_37	missense	SNP	0.001	T	T	142176354	C	T	142176354	3	4	108	1	0	0	0	0	1	0	0	0	4442	893	31	1	1421	1	DENND3	8	142176354	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	28065351	142176354	4187668	87	16117										
PLEC	5339	genome.wustl.edu	37	chr8	144994213	144994213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gctccgcagtgaagtactcaGagctgatgagctcccacacc	10	14	1	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:144994213G>C	ENST00000322810.4	-	32	10356	c.10187C>G	c.(10186-10188)tCt>tGt	p.S3396C	PLEC_ENST00000527096.1_Missense_Mutation_p.S3282C|PLEC_ENST00000436759.2_Missense_Mutation_p.S3286C|PLEC_ENST00000354589.3_Missense_Mutation_p.S3259C|PLEC_ENST00000354958.2_Missense_Mutation_p.S3237C|PLEC_ENST00000345136.3_Missense_Mutation_p.S3259C|PLEC_ENST00000356346.3_Missense_Mutation_p.S3245C|PLEC_ENST00000398774.2_Missense_Mutation_p.S3227C|PLEC_ENST00000357649.2_Missense_Mutation_p.S3263C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3396	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAAGTACTCAGAGCTGATGAG	0.592																																																	0													56	63	60					8																	144994213		2162	4249	6411	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10187C>G	8.37:g.144994213G>C	ENSP00000323856:p.Ser3396Cys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S3396C	ENST00000322810.4	37	c.10187	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	8.856	0.945673	0.18356	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.91740	-2.88;-2.88;-2.9;-2.9;-2.86;-2.87;-2.87;-2.86;-2.87	4.76	3.89	0.44902	.	0.000000	0.64402	U	0.000006	D	0.95367	0.8496	M	0.83483	2.645	0.49299	D	0.999778	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	D;D;D;P;D;D;D;D	0.63192	0.912;0.912;0.912;0.818;0.912;0.912;0.912;0.912	D	0.95550	0.8620	10	0.87932	D	0	.	13.0928	0.59174	0.08:0.0:0.92:0.0	.	3286;3245;3237;3396;3227;3259;3263;3259	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3259;3263;3259;3227;3396;3237;3245;3286;3282	ENSP00000344848:S3259C;ENSP00000350277:S3263C;ENSP00000346602:S3259C;ENSP00000381756:S3227C;ENSP00000323856:S3396C;ENSP00000347044:S3237C;ENSP00000348702:S3245C;ENSP00000388180:S3286C;ENSP00000434583:S3282C	ENSP00000323856:S3396C	S	-	2	0	PLEC	145066201	1.000000	0.71417	0.195000	0.23364	0.757000	0.42996	7.746000	0.85057	1.103000	0.41568	0.448000	0.29417	TCT	PLEC	-	NULL		0.592	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		144994213	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.999	C	C	144994213	G	C	144994213	3	2	108	1	0	0	0	0	1	0	0	0	12076	942	33	1	3871	1	PLEC	8	144994213	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	2817859	144994213	1369809	88	16118										
PLEC	5339	genome.wustl.edu	37	chr8	144995001	144995001	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cctcgctgcagctgctggtaGagctcgcggtcgatgaccct	13	14	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr8:144995001G>C	ENST00000322810.4	-	32	9568	c.9399C>G	c.(9397-9399)ctC>ctG	p.L3133L	PLEC_ENST00000527096.1_Silent_p.L3019L|PLEC_ENST00000436759.2_Silent_p.L3023L|PLEC_ENST00000354589.3_Silent_p.L2996L|PLEC_ENST00000354958.2_Silent_p.L2974L|PLEC_ENST00000345136.3_Silent_p.L2996L|PLEC_ENST00000356346.3_Silent_p.L2982L|PLEC_ENST00000398774.2_Silent_p.L2964L|PLEC_ENST00000357649.2_Silent_p.L3000L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3133	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCTGGTAGAGCTCGCGGT	0.672																																																	0													17	21	19					8																	144995001		2040	4121	6161	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9399C>G	8.37:g.144995001G>C			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L3133	ENST00000322810.4	37	c.9399	CCDS43772.1	8																																																																																			PLEC	-	smart_Plectin_repeat		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		144995001	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.554	C	C	144995001	G	C	144995001	2	2	108	1	0	0	0	0	0	0	0	1	12076	929	33	1		1	PLEC	8	144995001	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	788	144995001	1369021	89	16119										
RGP1	57704	genome.wustl.edu	37	chr9	35749263	35749263	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cggccggaagggactccgcgGagggtgggggaccgaaggga	22	9	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:35749263G>A	ENST00000378103.3	-	0	0				RGP1_ENST00000456972.2_Missense_Mutation_p.E21K|RGP1_ENST00000378078.4_5'Flank|GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGACTCCGCGGAGGGTGGGGG	0.766																																																	0													6	9	8					9																	35749263		1728	3903	5631	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749263G>A	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Rgp1	p.E21K	ENST00000378103.3	37	c.61	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764617	0.89932	.	.	ENSG00000107185	ENST00000456972	.	.	.	5.23	0.963	0.19649	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31696	-0.9934	5	0.59425	D	0.04	.	2.1596	0.03821	0.189:0.1541:0.499:0.1579	.	.	.	.	K	21	.	ENSP00000409466:E21K	E	+	1	0	RGP1	35739263	0.000000	0.05858	0.000000	0.03702	0.674000	0.39518	0.205000	0.17356	0.564000	0.29238	0.491000	0.48974	GAG	RGP1	-	NULL		0.766	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	G	NM_020944		35749263	1	no_errors	ENST00000456972	ensembl	human	known	70_37	missense	SNP	0.000	A	A	35749263	G	A	35749263	1	1	108	0	1	0	0	0	0	0	0	0	13314	1175	41	1		1	RGP1	9	35749263	5'Flank	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		35749263	105464168	90	16120										
RGP1	57704	genome.wustl.edu	37	chr9	35749382	35749382	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agatgaggcctaggggtgccGatccctagtgtcgactatgc	14	10	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:35749382G>A	ENST00000378103.3	-	0	0				RGP1_ENST00000456972.2_Silent_p.P26P|RGP1_ENST00000378078.4_5'UTR|GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGGTGCCGATCCCTAGTG	0.682																																																	0													48	59	55					9																	35749382		1927	4113	6040	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749382G>A	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	pfam_Rgp1	p.P26	ENST00000378103.3	37	c.78	CCDS6589.1	9																																																																																			RGP1	-	NULL		0.682	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	G	NM_020944		35749382	1	no_errors	ENST00000456972	ensembl	human	known	70_37	silent	SNP	0.000	A	A	35749382	G	A	35749382	1	1	108	0	1	0	0	0	0	0	0	0	13314	1045	37	1		1	RGP1	9	35749382	5'Flank	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	119	35749382	105464049	91	16121										
VPS13A	23230	genome.wustl.edu	37	chr9	79931247	79931247	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aaccttgaaaatagtacaatGactgctgccattaaagatct	6	8	1	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:79931247G>A	ENST00000360280.3	+	39	5048	c.4788G>A	c.(4786-4788)atG>atA	p.M1596I	VPS13A_ENST00000376636.3_Missense_Mutation_p.M1557I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M1596I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M1596I|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1596					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAGTACAATGACTGCTGCCA	0.378																																																	0													91	89	90					9																	79931247		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4788G>A	9.37:g.79931247G>A	ENSP00000353422:p.Met1596Ile		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M1596I	ENST00000360280.3	37	c.4788	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679966	0.29783	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.09	2.95	0.34219	.	0.209202	0.41823	D	0.000805	T	0.27027	0.0662	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.11235	0.001;0.001;0.004;0.001	B;B;B;B	0.15870	0.005;0.001;0.014;0.014	T	0.05209	-1.0899	10	0.11794	T	0.64	.	9.8339	0.40958	0.0843:0.0:0.7725:0.1432	.	1557;1596;1596;1596	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	1596;1557;1596;1596	ENSP00000365821:M1596I;ENSP00000365823:M1557I;ENSP00000353422:M1596I;ENSP00000349985:M1596I	ENSP00000349985:M1596I	M	+	3	0	VPS13A	79121067	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.286000	0.43496	2.375000	0.81037	0.563000	0.77884	ATG	VPS13A	-	NULL		0.378	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79931247	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79931247	G	A	79931247	3	1	108	1	0	0	0	0	1	0	0	0	17220	1290	45	1	4942	1	VPS13A	9	79931247	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	44181865	79931247	61282184	92	16122										
FRMD3	257019	genome.wustl.edu	37	chr9	85863159	85863159	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agcaatcaaaaaggcgttttCatctgcttccagatcctcaa	6	11	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:85863159C>T	ENST00000304195.3	-	14	1674	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	FRMD3_ENST00000376434.1_Missense_Mutation_p.E296K|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.E490K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E147K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	490						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGGCGTTTTCATCTGCTTCC	0.483																																																	0													146	143	144					9																	85863159		1969	4161	6130	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1468G>A	9.37:g.85863159C>T	ENSP00000303508:p.Glu490Lys		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E490K	ENST00000304195.3	37	c.1468	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997481	0.35226	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86562	-1.72;-2.14;0.76;-1.71	5.72	5.72	0.89469	.	0.051398	0.85682	D	0.000000	D	0.91372	0.7278	L	0.59436	1.845	0.48185	D	0.999602	P;P;D	0.71674	0.895;0.879;0.998	B;B;D	0.78314	0.281;0.324;0.991	D	0.86525	0.1818	10	0.07813	T	0.8	.	19.8861	0.96913	0.0:1.0:0.0:0.0	.	490;490;147	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	K	490;296;147;490	ENSP00000365621:E490K;ENSP00000365617:E296K;ENSP00000328615:E147K;ENSP00000303508:E490K	ENSP00000303508:E490K	E	-	1	0	FRMD3	85052979	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.116000	0.57871	2.711000	0.92665	0.655000	0.94253	GAA	FRMD3	-	NULL		0.483	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	C	NM_174938		85863159	-1	no_errors	ENST00000304195	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85863159	C	T	85863159	3	4	108	1	0	0	0	0	1	0	0	0	6068	835	29	1	329	1	FRMD3	9	85863159	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	5931912	85863159	55350272	93	16123										
C9orf79	286234	genome.wustl.edu	37	chr9	90500620	90500620	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atcacgaccctaaatcccttCtggaacgtgtcaacccagcc	6	16	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:90500620C>G	ENST00000325643.5	+	4	1284	c.1218C>G	c.(1216-1218)ttC>ttG	p.F406L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	406					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TAAATCCCTTCTGGAACGTGT	0.557																																																	0													87	66	73					9																	90500620		2202	4299	6501	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1218C>G	9.37:g.90500620C>G	ENSP00000322640:p.Phe406Leu		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.F406L	ENST00000325643.5	37	c.1218	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	c	13.27	2.186274	0.38609	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.04454	3.62	2.67	0.783	0.18572	.	0.485631	0.17508	N	0.171732	T	0.05823	0.0152	L	0.56124	1.755	0.09310	N	1	P;P	0.42375	0.778;0.518	P;B	0.45119	0.47;0.103	T	0.31752	-0.9932	10	0.17832	T	0.49	.	4.6362	0.12525	0.0:0.6828:0.0:0.3172	.	406;58	Q6ZUB1;Q8NA33	CI079_HUMAN;.	L	406;58	ENSP00000322640:F406L	ENSP00000322640:F406L	F	+	3	2	C9orf79	89690440	0.011000	0.17503	0.007000	0.13788	0.045000	0.14185	0.092000	0.15066	0.215000	0.20761	0.644000	0.83932	TTC	SPATA31E1	-	NULL		0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	C	NM_178828		90500620	1	no_errors	ENST00000325643	ensembl	human	known	70_37	missense	SNP	0.009	G	G	90500620	C	G	90500620	3	3	108	1	0	0	0	0	1	0	0	0	2502	912	32	1	1232	1	C9orf79	9	90500620	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	4637461	90500620	50712811	94	16124										
BICD2	23299	genome.wustl.edu	37	chr9	95480097	95480097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	acctggtggcaaacatagcaCgcagcgaggagaaggtggct	15	9	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:95480097C>T	ENST00000375512.3	-	6	2307	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H	BICD2_ENST00000356884.6_Missense_Mutation_p.R747H	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	747	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AAACATAGCACGCAGCGAGGA	0.577																																																	0													186	111	137					9																	95480097		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2240G>A	9.37:g.95480097C>T	ENSP00000364662:p.Arg747His		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.R747H	ENST00000375512.3	37	c.2240	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.120645	0.94385	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.67698	-0.28;-0.28	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84965	0.0879	10	0.52906	T	0.07	-11.9454	16.645	0.85174	0.0:1.0:0.0:0.0	.	747;747	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	H	747	ENSP00000349351:R747H;ENSP00000364662:R747H	ENSP00000349351:R747H	R	-	2	0	BICD2	94519918	1.000000	0.71417	0.789000	0.31954	0.863000	0.49368	7.714000	0.84703	2.624000	0.88883	0.561000	0.74099	CGT	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95480097	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	0.998	T	T	95480097	C	T	95480097	3	4	108	1	0	0	0	0	1	0	0	0	1430	536	19	2	345	2	BICD2	9	95480097	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	4979477	95480097	45733334	95	16125										
C9orf4	23732	genome.wustl.edu	37	chr9	111903843	111903843	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	accctgccattgtcatcatgGacgcaggccatgacatcatc	8	14	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:111903843G>A	ENST00000561981.2	-	4	641	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	214	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGTCATCATGGACGCAGGCCA	0.433																																																	0													85	81	82					9																	111903843		2203	4300	6503	SO:0001819	synonymous_variant	23732			AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"chromosome 9 open reading frame 4"	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.642C>T	9.37:g.111903843G>A			Q5T4G4	Silent	SNP	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain	p.V214	ENST00000561981.2	37	c.642	CCDS35098.1	9																																																																																			FRRS1L	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain		0.433	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRRS1L	HGNC	protein_coding	OTTHUMT00000053586.2	G	NM_014334		111903843	-1	no_errors	ENST00000374581	ensembl	human	known	70_37	silent	SNP	1.000	A	A	111903843	G	A	111903843	2	1	108	1	0	0	0	0	0	0	0	1	2485	1161	41	1		1	C9orf4	9	111903843	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	16423746	111903843	29309588	96	16126										
KIAA1958	158405	genome.wustl.edu	37	chr9	115421911	115421911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cagtacctgaacatgcggacGctgcaggagcatgcggatct	13	11	1	1	rs150043037		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr9:115421911G>A	ENST00000337530.6	+	4	2009	c.1713G>A	c.(1711-1713)acG>acA	p.T571T	KIAA1958_ENST00000536272.1_Silent_p.T599T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	571										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ACATGCGGACGCTGCAGGAGC	0.577																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	83	79	80		1713	-11.3	0.4	9	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	KIAA1958	NM_133465.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		571/717	115421911	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1713G>A	9.37:g.115421911G>A			B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.T599	ENST00000337530.6	37	c.1797	CCDS35108.1	9																																																																																			KIAA1958	-	pfam_DUF3504		0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	G	NM_133465		115421911	1	no_errors	ENST00000536272	ensembl	human	known	70_37	silent	SNP	0.408	A	A	115421911	G	A	115421911	2	1	108	1	0	0	0	0	0	0	0	1	8284	1074	38	2		2	KIAA1958	9	115421911	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	3518068	115421911	25791520	97	16127										
AGAP6	414189	genome.wustl.edu	37	chr10	51769259	51769259	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agtaaaagcaagtcccagctGaccagccagagcgaggccat	11	12	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr10:51769259G>A	ENST00000374056.4	+	7	1703	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L	AGAP6_ENST00000412531.3_Silent_p.L458L			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	435					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGTCCCAGCTGACCAGCCAGA	0.597																																																	0																																										SO:0001819	synonymous_variant	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1305G>A	10.37:g.51769259G>A				Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.L458	ENST00000374056.4	37	c.1374		10																																																																																			AGAP6	-	NULL		0.597	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		G	NM_001077665		51769259	1	no_errors	ENST00000374056	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51769259	G	A	51769259	2	1	108	1	0	0	0	0	0	0	0	1	372	1277	45	1		1	AGAP6	10	51769259	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		51769259	83765488	98	16128										
TTC18	118491	genome.wustl.edu	37	chr10	75095277	75095277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tctgcttgattcctaaattcGctgtcctgtaaaatataaat	5	8	1	1	rs375148315		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr10:75095277G>A	ENST00000310715.3	-	8	918	c.798C>T	c.(796-798)agC>agT	p.S266S	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Silent_p.S266S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Silent_p.S266S	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		266						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCCTAAATTCGCTGTCCTGTA	0.393																																																	0								G		0,4406		0,0,2203	95	87	90		798	-4.6	0.9	10		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTC18	NM_145170.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		266/1122	75095277	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	118491																														ENST00000310715.3:c.798C>T	10.37:g.75095277G>A			C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S266	ENST00000310715.3	37	c.798	CCDS7324.3	10																																																																																			TTC18	-	NULL		0.393	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		G			75095277	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	silent	SNP	0.662	A	A	75095277	G	A	75095277	2	1	108	1	0	0	0	0	0	0	0	1	16716	1078	38	2		2	TTC18	10	75095277	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	23326018	75095277	60439470	99	16129										
PRKCDBP	112464	genome.wustl.edu	37	chr11	6340598	6340598	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctgcagggcctttccggcccGaaagggcccttcggaggctc	14	15	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:6340598G>C	ENST00000303927.3	-	2	751	c.581C>G	c.(580-582)tCg>tGg	p.S194W	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.S226W	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	194					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)		p.S194L(1)		large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCCGGCCCGAAAGGGCCCT	0.716																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											23	31	28					11																	6340598		2197	4294	6491	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.581C>G	11.37:g.6340598G>C	ENSP00000307292:p.Ser194Trp			Missense_Mutation	SNP	NULL	p.S194W	ENST00000303927.3	37	c.581	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965055	0.74131	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.72725	-0.68;-0.68	5.08	5.08	0.68730	.	0.067853	0.64402	D	0.000010	T	0.73737	0.3625	N	0.19112	0.55	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.77755	-0.2469	10	0.87932	D	0	-16.1931	13.9712	0.64242	0.0:0.0:1.0:0.0	.	194	Q969G5	PRDBP_HUMAN	W	194;226	ENSP00000307292:S194W;ENSP00000432047:S226W	ENSP00000307292:S194W	S	-	2	0	PRKCDBP	6297174	1.000000	0.71417	0.173000	0.22940	0.988000	0.76386	3.722000	0.54948	2.368000	0.80403	0.561000	0.74099	TCG	PRKCDBP	-	NULL		0.716	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	G	NM_145040		6340598	-1	no_errors	ENST00000303927	ensembl	human	known	70_37	missense	SNP	0.486	C	C	6340598	G	C	6340598	3	2	108	1	0	0	0	0	1	0	0	0	12537	1059	37	1	208	1	PRKCDBP	11	6340598	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		6340598	128665918	100	16130										
DCHS1	8642	genome.wustl.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-													0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gcacctggcaccccagccccCagcagcagcagcagcagcag					rs370785084|rs372916982		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																																	1	Insertion - In frame(1)	prostate(1)								54,415,3471		8,0,38,73,269,1582						5.3	1		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del		O15098	In_Frame_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L33in_frame_del	ENST00000299441.3	37	c.99_97	CCDS7771.1	11																																																																																			DCHS1	-	NULL		0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	CAG	NM_003737		6662748	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	6662748	CAG	-	6662746	7	5	108	1	0	1	0	1	0	0	0	0	4292	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-EK-A2RD-01A-12D-A20U-09	322148	6662746	128343770	101	16131										
PRDM11	56981	genome.wustl.edu	37	chr11	45245934	45245934	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aagaagaagaaaattgacctGattttcaaggatgttctgga	10	4	2	5			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:45245934G>A	ENST00000530656.1	+	7	1011	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Silent_p.L337L|PRDM11_ENST00000424263.2_Silent_p.L303L|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	337							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAATTGACCTGATTTTCAAGG	0.512																																					NSCLC(118;1511 1736 6472 36603 43224)												0													144	150	148					11																	45245934		2203	4299	6502	SO:0001819	synonymous_variant	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1011G>A	11.37:g.45245934G>A			Q8N9F1	Silent	SNP	pfscan_SET_dom	p.L337	ENST00000530656.1	37	c.1011		11																																																																																			PRDM11	-	NULL		0.512	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	G	NM_020229		45245934	1	no_errors	ENST00000263765	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45245934	G	A	45245934	2	1	108	1	0	0	0	0	0	0	0	1	12479	1277	45	1		1	PRDM11	11	45245934	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	38583188	45245934	89760582	102	16132										
NUP160	23279	genome.wustl.edu	37	chr11	47823452	47823452	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gaattcctctttgcctacttCagatgctgcctgacaaaaac	6	12	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:47823452C>T	ENST00000378460.2	-	23	2852	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	NUP160_ENST00000530326.1_Missense_Mutation_p.E822K|RNA5SP340_ENST00000517132.1_RNA|NUP160_ENST00000528071.1_Missense_Mutation_p.E822K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	936					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTGCCTACTTCAGATGCTGCC	0.428																																																	0													98	85	89					11																	47823452		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2806G>A	11.37:g.47823452C>T	ENSP00000367721:p.Glu936Lys		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.E936K	ENST00000378460.2	37	c.2806	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669782	0.88348	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.43688	1.52;0.95;0.94	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.60455	1.87	0.80722	D	1	P	0.44690	0.841	B	0.38616	0.277	T	0.26224	-1.0109	10	0.27785	T	0.31	.	16.449	0.83973	0.0:1.0:0.0:0.0	.	936	Q12769	NU160_HUMAN	K	936;822;822	ENSP00000367721:E936K;ENSP00000433590:E822K;ENSP00000432367:E822K	ENSP00000367721:E936K	E	-	1	0	NUP160	47780028	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.651000	0.74372	2.561000	0.86390	0.555000	0.69702	GAA	NUP160	-	NULL		0.428	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	C	NM_015231		47823452	-1	no_errors	ENST00000378460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47823452	C	T	47823452	3	4	108	1	0	0	0	0	1	0	0	0	10781	835	29	1	1560	1	NUP160	11	47823452	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	2577518	47823452	87183064	103	16133										
OR4X1	390113	genome.wustl.edu	37	chr11	48286033	48286033	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggcggctccatctccgtagtCagtttcttcgtgctgatggc	12	12	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:48286033C>T	ENST00000320048.1	+	1	621	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCTCCGTAGTCAGTTTCTTCG	0.557																																																	0													130	103	112					11																	48286033		2201	4298	6499	SO:0001819	synonymous_variant	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.621C>T	11.37:g.48286033C>T			Q6IF74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V207	ENST00000320048.1	37	c.621	CCDS31487.1	11																																																																																			OR4X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1	C	NM_001004726		48286033	1	no_errors	ENST00000320048	ensembl	human	known	70_37	silent	SNP	0.935	T	T	48286033	C	T	48286033	2	4	108	1	0	0	0	0	0	0	0	1	11108	813	29	1		1	OR4X1	11	48286033	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	462581	48286033	86720483	104	16134										
BBS1	582	genome.wustl.edu	37	chr11	66297298	66297298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccttctccacagccatgcacCgggccttccagacagaccta	7	18	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:66297298C>T	ENST00000318312.7	+	14	1399	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.R321W|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R487W|BBS1_ENST00000455748.2_Missense_Mutation_p.R353W	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	450					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AGCCATGCACCGGGCCTTCCA	0.687									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													89	61	71					11																	66297298		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1348C>T	11.37:g.66297298C>T	ENSP00000317469:p.Arg450Trp		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R487W	ENST00000318312.7	37	c.1459	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.206794	0.95033	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97430	-4.31;-4.38;-4.19;-4.13	4.46	4.46	0.54185	.	.	.	.	.	D	0.98289	0.9433	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;P;P	0.74023	0.963;0.971;0.982;0.923;0.832;0.855	D	0.99267	1.0892	9	0.87932	D	0	.	14.9687	0.71217	0.0:1.0:0.0:0.0	.	125;353;321;338;450;487	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	W	487;450;353;321	ENSP00000398526:R487W;ENSP00000317469:R450W;ENSP00000405764:R353W;ENSP00000377563:R321W	ENSP00000317469:R450W	R	+	1	2	BBS1;CTD-3074O7.11	66053874	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.324000	0.52022	2.200000	0.70718	0.655000	0.94253	CGG	BBS1	-	NULL		0.687	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	C			66297298	1	no_errors	ENST00000419755	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66297298	C	T	66297298	3	4	108	1	0	0	0	0	1	0	0	0	1336	643	23	2	1402	2	BBS1	11	66297298	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	18011265	66297298	68709218	105	16135										
CLCF1	23529	genome.wustl.edu	37	chr11	67134998	67134998	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggtcataggttttctggatgGaggggccaggccctgggtcc	17	9	2	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:67134998G>C	ENST00000312438.7	-	2	313	c.116C>G	c.(115-117)tCc>tGc	p.S39C	CLCF1_ENST00000533438.1_Missense_Mutation_p.S29C|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Missense_Mutation_p.S29C	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	39					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			TTTCTGGATGGAGGGGCCAGG	0.622																																																	0													136	114	121					11																	67134998		2200	4295	6495	SO:0001583	missense	23529			BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"B-cell stimulating factor 3", "cold-induced sweating syndrome 2", "novel neurotrophin-1"	607672	"CRLF1 associated cytokine-like factor 1"			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.116C>G	11.37:g.67134998G>C	ENSP00000309338:p.Ser39Cys		B4DNT4|Q6NZA4	Missense_Mutation	SNP	pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.S39C	ENST00000312438.7	37	c.116	CCDS31617.1	11	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613060	0.66672	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.38077	1.16;1.16;1.16	5.21	5.21	0.72293	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.071969	0.56097	D	0.000026	T	0.30070	0.0753	N	0.08118	0	0.50813	D	0.999896	D	0.56746	0.977	P	0.48368	0.575	T	0.34625	-0.9821	10	0.87932	D	0	-0.2595	18.7397	0.91769	0.0:0.0:1.0:0.0	.	39	Q9UBD9	CLCF1_HUMAN	C	39;29;29	ENSP00000309338:S39C;ENSP00000434122:S29C;ENSP00000432553:S29C	ENSP00000309338:S39C	S	-	2	0	CLCF1	66891574	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.289000	0.89923	2.611000	0.88343	0.591000	0.81541	TCC	CLCF1	-	superfamily_4_helix_cytokine-like_core		0.622	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCF1	HGNC	protein_coding	OTTHUMT00000395478.1	G	NM_013246		67134998	-1	no_errors	ENST00000312438	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67134998	G	C	67134998	3	2	108	1	0	0	0	0	1	0	0	0	3466	1174	41	1	569	1	CLCF1	11	67134998	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	837700	67134998	67871518	106	16136										
PPP1CA	5499	genome.wustl.edu	37	chr11	67168188	67168188	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tagaaaccatagatgcggttGatgctggcacactcgtggtt	12	8	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:67168188G>T	ENST00000376745.4	-	3	538	c.390C>A	c.(388-390)atC>atA	p.I130I	PPP1CA_ENST00000312989.7_Silent_p.I141I|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Silent_p.I86I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	130					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			AGATGCGGTTGATGCTGGCAC	0.562																																																	0													105	95	99					11																	67168188		2200	4295	6495	SO:0001819	synonymous_variant	5499				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.390C>A	11.37:g.67168188G>T			A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.I141	ENST00000376745.4	37	c.423	CCDS8160.1	11																																																																																			PPP1CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.562	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CA	HGNC	protein_coding	OTTHUMT00000395487.1	G	NM_002708		67168188	-1	no_errors	ENST00000312989	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67168188	G	T	67168188	2	4	108	1	0	0	0	0	0	0	0	1	12376	1280	45	3		3	PPP1CA	11	67168188	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	33190	67168188	67838328	107	16137										
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	11	17	1	0	rs4014596		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																																	1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	81622			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	UNC93B1	-	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		C	NM_030930		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	70_37	missense	SNP	0.997	T	T	67759316	C	T	67759316	3	4	108	1	0	0	0	0	1	0	0	0	17028	507	18	4	302	4	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	591128	67759316	67247200	108	16138										
MYO7A	4647	genome.wustl.edu	37	chr11	76919742	76919742	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccgactgccctgtgctgcagGaattgtgccctcactcacct	9	16	2	0	rs111033250		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:76919742G>A	ENST00000409709.3	+	44	6217	c.5945G>A	c.(5944-5946)gGa>gAa	p.G1982E	MYO7A_ENST00000458637.2_Splice_Site_p.G1944E|MYO7A_ENST00000409619.2_Splice_Site_p.G1933E|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1982	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTGCTGCAGGAATTGTGCCC	0.607																																																	0													51	58	56					11																	76919742		2086	4211	6297	SO:0001630	splice_region_variant	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5945-1G>A	11.37:g.76919742G>A			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G1982E	ENST00000409709.3	37	c.5945	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565783	0.86439	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.88277	-2.36;-2.34;-2.35;-2.24	4.9	4.9	0.64082	Band 4.1 domain (1);FERM domain (1);	0.110929	0.64402	D	0.000010	D	0.93180	0.7828	M	0.77486	2.375	0.80722	D	1	D;P	0.58268	0.982;0.716	P;P	0.57324	0.818;0.466	D	0.93267	0.6648	9	.	.	.	.	18.0695	0.89402	0.0:0.0:1.0:0.0	.	1944;1982	F8VUN5;Q13402	.;MYO7A_HUMAN	E	1982;1944;1933;1155;1981;1951;1858;1124;597	ENSP00000386331:G1982E;ENSP00000392185:G1944E;ENSP00000386635:G1933E;ENSP00000417017:G1124E	.	G	+	2	0	MYO7A	76597390	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.405000	0.97313	2.282000	0.76494	0.305000	0.20034	GGA	MYO7A	-	smart_Band_41_domain,pfscan_FERM_domain		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	G	NM_000260	Missense_Mutation	76919742	1	no_errors	ENST00000409709	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76919742	G	A	76919742	5	1	108	1	0	0	0	0	0	0	1	0	10105	1188	41	1	6149	1	MYO7A	11	76919742	Splice_Site	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	9160426	76919742	58086774	109	16139										
GDPD4	220032	genome.wustl.edu	37	chr11	76928352	76928352	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcctcattcttacttccactCtgagtatctgtgggatggaa	8	10	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr11:76928352C>T	ENST00000376217.2	-	16	1783	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	GDPD4_ENST00000315938.4_Silent_p.Q511Q			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	511					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TACTTCCACTCTGAGTATCTG	0.423																																																	0													169	148	156					11																	76928352		2200	4292	6492	SO:0001819	synonymous_variant	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1533G>A	11.37:g.76928352C>T			Q7Z5B0	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.Q511	ENST00000376217.2	37	c.1533		11																																																																																			GDPD4	-	NULL		0.423	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	C	NM_182833		76928352	-1	no_errors	ENST00000376217	ensembl	human	known	70_37	silent	SNP	0.000	T	T	76928352	C	T	76928352	2	4	108	1	0	0	0	0	0	0	0	1	6345	912	32	1		1	GDPD4	11	76928352	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	8610	76928352	58078164	110	16140										
KCNA5	3741	genome.wustl.edu	37	chr12	5155077	5155077	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cccctagagaagtgtaacgtCaaggccaagagcaacgtgga	12	10	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:5155077C>G	ENST00000252321.3	+	1	1993	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGTGTAACGTCAAGGCCAAGA	0.592																																																	0													39	40	40					12																	5155077		2203	4300	6503	SO:0001819	synonymous_variant	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1764C>G	12.37:g.5155077C>G			Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.V588	ENST00000252321.3	37	c.1764	CCDS8536.1	12																																																																																			KCNA5	-	prints_K_chnl_volt-dep_Kv1.5		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	C	NM_002234		5155077	1	no_errors	ENST00000252321	ensembl	human	known	70_37	silent	SNP	1.000	G	G	5155077	C	G	5155077	2	3	108	1	0	0	0	0	0	0	0	1	8026	813	29	1		1	KCNA5	12	5155077	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		5155077	128696818	111	16141										
ST8SIA1	6489	genome.wustl.edu	37	chr12	22401946	22401946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcataaactcttacctttgcCgaattatgctgggattagct	7	9	2	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:22401946C>T	ENST00000396037.4	-	4	1059	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.R50Q	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	193					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TTACCTTTGCCGAATTATGCT	0.398																																																	0													170	140	150					12																	22401946		2203	4300	6503	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.578G>A	12.37:g.22401946C>T	ENSP00000379353:p.Arg193Gln		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R193Q	ENST00000396037.4	37	c.578	CCDS8697.1	12	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221438	0.39300	.	.	ENSG00000111728	ENST00000396037;ENST00000539510;ENST00000540824;ENST00000538256;ENST00000541868	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.62	5.62	0.85841	.	0.130754	0.52532	D	0.000066	T	0.11922	0.0290	N	0.04203	-0.255	0.32906	D	0.513904	B;B	0.20261	0.043;0.024	B;B	0.16289	0.003;0.015	T	0.21245	-1.0251	10	0.06891	T	0.86	-17.2675	8.6964	0.34298	0.0:0.872:0.0:0.128	.	50;193	G3V1U7;Q92185	.;SIA8A_HUMAN	Q	193;50;144;12;170	ENSP00000379353:R193Q;ENSP00000446363:R50Q;ENSP00000441707:R144Q;ENSP00000440292:R170Q	ENSP00000379353:R193Q	R	-	2	0	ST8SIA1	22293213	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.781000	0.55394	2.653000	0.90120	0.637000	0.83480	CGG	ST8SIA1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.398	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA1	HGNC	protein_coding	OTTHUMT00000402245.2	C	NM_003034		22401946	-1	no_errors	ENST00000396037	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22401946	C	T	22401946	3	4	108	1	0	0	0	0	1	0	0	0	15261	652	23	2	500	2	ST8SIA1	12	22401946	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	17246869	22401946	111449949	112	16142										
KIF21A	55605	genome.wustl.edu	37	chr12	39716488	39716488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	acatgctgcctatcttagaaGgtaagccaggtgggggagag	15	7	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:39716488G>T	ENST00000361418.5	-	27	3668	c.3653C>A	c.(3652-3654)cCt>cAt	p.P1218H	KIF21A_ENST00000541463.2_Missense_Mutation_p.P1182H|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000361961.3_Missense_Mutation_p.P1205H|KIF21A_ENST00000395670.3_Missense_Mutation_p.P1218H|KIF21A_ENST00000544797.2_Missense_Mutation_p.P1198H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1218					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TATCTTAGAAGGTAAGCCAGG	0.413																																																	0													118	109	112					12																	39716488		2203	4300	6503	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3653C>A	12.37:g.39716488G>T	ENSP00000354878:p.Pro1218His		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.P1218H	ENST00000361418.5	37	c.3653	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.334769|4.334769	0.81801|0.81801	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.70282	.|-0.47;-0.42;0.34;-0.44;-0.36;-0.42	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.53938	.|D	.|0.000057	D|D	0.83622|0.83622	0.5294|0.5294	M|M	0.72894|0.72894	2.215|2.215	0.53005|0.53005	D|D	0.99996|0.99996	.|D;P;B;D;B;B	.|0.89917	.|0.996;0.785;0.382;1.0;0.166;0.016	.|P;P;B;D;B;B	.|0.87578	.|0.855;0.639;0.091;0.998;0.158;0.022	D|D	0.83964|0.83964	0.0323|0.0323	5|10	.|0.46703	.|T	.|0.11	.|.	18.5275|18.5275	0.90978|0.90978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1198;1182;1218;1205;1218;265	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	I|H	566|1205;1218;1218;265;259;1198;1218;1182	.|ENSP00000354851:P1205H;ENSP00000379029:P1218H;ENSP00000448792:P259H;ENSP00000445606:P1198H;ENSP00000354878:P1218H;ENSP00000438075:P1182H	.|ENSP00000344501:P1218H	L|P	-|-	1|2	0|0	KIF21A|KIF21A	38002755|38002755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.172000|9.172000	0.94808|0.94808	2.358000|2.358000	0.79984|0.79984	0.655000|0.655000	0.94253|0.94253	CTT|CCT	KIF21A	-	NULL		0.413	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	G	NM_017641		39716488	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39716488	G	T	39716488	3	4	108	1	0	0	0	0	1	0	0	0	8308	1000	35	4	1419	4	KIF21A	12	39716488	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	17314542	39716488	94135407	113	16143										
ZNF740	283337	genome.wustl.edu	37	chr12	53579210	53579210	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ataagtcccggagccgcaaaGatgatgacagcttgtctgag	12	9	1	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:53579210G>C	ENST00000416904.3	+	4	644	c.199G>C	c.(199-201)Gat>Cat	p.D67H		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						GAGCCGCAAAGATGATGACAG	0.443																																																	0													78	78	78					12																	53579210		1885	4117	6002	SO:0001583	missense	283337			BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"Zinc fingers, C2H2-type"	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.199G>C	12.37:g.53579210G>C	ENSP00000409463:p.Asp67His		A8K9M9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D67H	ENST00000416904.3	37	c.199	CCDS44896.1	12	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622825	0.46840	.	.	ENSG00000139651	ENST00000416904	T	0.07908	3.15	4.85	4.85	0.62838	.	0.165226	0.40302	N	0.001129	T	0.04048	0.0113	N	0.08118	0	0.29272	N	0.870592	D	0.56746	0.977	B	0.38803	0.282	T	0.18808	-1.0325	10	0.59425	D	0.04	-3.9385	9.2898	0.37780	0.0964:0.0:0.9036:0.0	.	67	Q8NDX6	ZN740_HUMAN	H	67	ENSP00000409463:D67H	ENSP00000409463:D67H	D	+	1	0	ZNF740	51865477	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.632000	0.54287	2.686000	0.91538	0.462000	0.41574	GAT	ZNF740	-	NULL		0.443	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF740	HGNC	protein_coding	OTTHUMT00000406890.2	G	NM_001004304		53579210	1	no_errors	ENST00000416904	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53579210	G	C	53579210	3	2	108	1	0	0	0	0	1	0	0	0	18158	942	33	1	209	1	ZNF740	12	53579210	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	13862722	53579210	80272685	114	16144										
LRRIQ1	84125	genome.wustl.edu	37	chr12	85547849	85547849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gagggcacagaaaatgaaatCgaagaaactaaagaaaaaaa	9	4	0	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:85547849C>T	ENST00000393217.2	+	23	4758	c.4697C>T	c.(4696-4698)tCg>tTg	p.S1566L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1566										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAATGAAATCGAAGAAACTA	0.269																																																	0													29	28	28					12																	85547849		1779	4038	5817	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4697C>T	12.37:g.85547849C>T	ENSP00000376910:p.Ser1566Leu		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.S1566L	ENST00000393217.2	37	c.4697	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984820	0.53934	.	.	ENSG00000133640	ENST00000393217	T	0.59364	0.27	5.36	4.47	0.54385	.	.	.	.	.	T	0.40956	0.1138	N	0.19112	0.55	0.27346	N	0.956368	P	0.51240	0.943	B	0.35727	0.209	T	0.33214	-0.9877	9	0.72032	D	0.01	.	14.5435	0.68013	0.0:0.929:0.0:0.071	.	1566	Q96JM4	LRIQ1_HUMAN	L	1566	ENSP00000376910:S1566L	ENSP00000376910:S1566L	S	+	2	0	LRRIQ1	84071980	0.997000	0.39634	0.998000	0.56505	0.917000	0.54804	3.182000	0.50910	1.373000	0.46208	0.650000	0.86243	TCG	LRRIQ1	-	NULL		0.269	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	C	NM_032165		85547849	1	no_errors	ENST00000393217	ensembl	human	known	70_37	missense	SNP	0.991	T	T	85547849	C	T	85547849	3	4	108	1	0	0	0	0	1	0	0	0	9052	893	31	1	4787	1	LRRIQ1	12	85547849	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	31968639	85547849	48304046	115	16145										
VEZT	55591	genome.wustl.edu	37	chr12	95688056	95688056	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cgttttttaaaggcaagcctGaaatagcatgtgaaaaccca	8	8	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:95688056G>C	ENST00000436874.1	+	10	1636	c.1531G>C	c.(1531-1533)Gaa>Caa	p.E511Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E463Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	511					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGGCAAGCCTGAAATAGCATG	0.423																																																	0													63	56	59					12																	95688056		1868	4104	5972	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1531G>C	12.37:g.95688056G>C	ENSP00000410083:p.Glu511Gln		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.E511Q	ENST00000436874.1	37	c.1531	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141337	0.57044	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.18502	2.21;2.21;2.21	5.33	5.33	0.75918	.	0.219159	0.47455	D	0.000230	T	0.19765	0.0475	L	0.40543	1.245	0.37056	D	0.897841	P	0.45348	0.856	B	0.43623	0.425	T	0.03139	-1.1068	10	0.40728	T	0.16	-3.9021	17.5603	0.87905	0.0:0.0:1.0:0.0	.	511	Q9HBM0	VEZA_HUMAN	Q	511;463;467;511	ENSP00000410083:E511Q;ENSP00000261219:E463Q;ENSP00000380894:E467Q	ENSP00000261219:E463Q	E	+	1	0	VEZT	94212187	1.000000	0.71417	0.991000	0.47740	0.309000	0.27889	3.760000	0.55235	2.665000	0.90641	0.591000	0.81541	GAA	VEZT	-	NULL		0.423	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95688056	1	no_errors	ENST00000436874	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95688056	G	C	95688056	3	2	108	1	0	0	0	0	1	0	0	0	17187	1291	45	1	1569	1	VEZT	12	95688056	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	10140207	95688056	38163839	116	16146										
CUX2	23316	genome.wustl.edu	37	chr12	111747986	111747986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gcagcccctgctgggccccaGcttggggcctgacggcactc	14	17	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:111747986G>C	ENST00000261726.6	+	15	1554	c.1400G>C	c.(1399-1401)aGc>aCc	p.S467T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	467	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTGGGCCCCAGCTTGGGGCCT	0.692																																																	0													16	20	19					12																	111747986		1884	4096	5980	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1400G>C	12.37:g.111747986G>C	ENSP00000261726:p.Ser467Thr		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.S467T	ENST00000261726.6	37	c.1400	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	3.640	-0.073800	0.07184	.	.	ENSG00000111249	ENST00000261726	T	0.49139	0.79	4.81	3.91	0.45181	.	0.590653	0.19499	N	0.112791	T	0.38825	0.1055	L	0.50333	1.59	0.09310	N	1	B	0.23058	0.079	B	0.18263	0.021	T	0.25882	-1.0119	10	0.37606	T	0.19	-1.1572	7.9977	0.30277	0.0869:0.1602:0.7528:0.0	.	467	O14529	CUX2_HUMAN	T	467	ENSP00000261726:S467T	ENSP00000261726:S467T	S	+	2	0	CUX2	110232369	0.045000	0.20229	0.424000	0.26647	0.044000	0.14063	2.156000	0.42310	1.012000	0.39366	0.313000	0.20887	AGC	CUX2	-	NULL		0.692	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	G	NM_015267		111747986	1	no_errors	ENST00000261726	ensembl	human	known	70_37	missense	SNP	0.279	C	C	111747986	G	C	111747986	3	2	108	1	0	0	0	0	1	0	0	0	4070	971	34	4	1458	4	CUX2	12	111747986	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	16059930	111747986	22103909	117	16147			2	67		2	2	12	G		6.715611e-05
CUX2	23316	genome.wustl.edu	37	chr12	111747997	111747997	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tgggccccagcttggggcctGacggcactcggactttctcg	14	14	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:111747997G>A	ENST00000261726.6	+	15	1565	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	471	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTTGGGGCCTGACGGCACTCG	0.701																																																	0													17	20	19					12																	111747997		1893	4100	5993	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1411G>A	12.37:g.111747997G>A	ENSP00000261726:p.Asp471Asn		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D471N	ENST00000261726.6	37	c.1411	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	8.686	0.906374	0.17833	.	.	ENSG00000111249	ENST00000261726	T	0.50001	0.76	4.8	4.8	0.61643	.	0.353172	0.32687	N	0.005772	T	0.36853	0.0982	L	0.29908	0.895	0.29925	N	0.822383	P	0.35433	0.501	B	0.33042	0.157	T	0.26258	-1.0108	10	0.22706	T	0.39	-15.1529	17.8477	0.88736	0.0:0.0:1.0:0.0	.	471	O14529	CUX2_HUMAN	N	471	ENSP00000261726:D471N	ENSP00000261726:D471N	D	+	1	0	CUX2	110232380	1.000000	0.71417	0.048000	0.18961	0.021000	0.10359	6.181000	0.71988	2.218000	0.71995	0.313000	0.20887	GAC	CUX2	-	NULL		0.701	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	G	NM_015267		111747997	1	no_errors	ENST00000261726	ensembl	human	known	70_37	missense	SNP	0.643	A	A	111747997	G	A	111747997	3	1	108	1	0	0	0	0	1	0	0	0	4070	1290	45	1	1469	1	CUX2	12	111747997	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	11	111747997	22103898	118	16148			2	67		2	2	12	G		6.715611e-05
C12orf52	84934	genome.wustl.edu	37	chr12	113629176	113629176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttggctcccgatctgaaggcGccagcttcggggccccgcgg	15	15	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:113629176G>A	ENST00000548278.1	+	4	1056	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.A146T|C12orf52_ENST00000549621.1_Missense_Mutation_p.A122T	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		122					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						ATCTGAAGGCGCCAGCTTCGG	0.632																																																	0													38	39	39					12																	113629176		2203	4300	6503	SO:0001583	missense	84934																														ENST00000548278.1:c.364G>A	12.37:g.113629176G>A	ENSP00000449841:p.Ala122Thr		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	NULL	p.A122T	ENST00000548278.1	37	c.364	CCDS9166.1	12	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.276113	0.01410	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.28895	1.6;1.6;1.59	4.39	-5.16	0.02857	.	1.558950	0.03835	N	0.269616	T	0.06508	0.0167	N	0.00823	-1.155	0.09310	N	1	B;B;B	0.19706	0.009;0.038;0.009	B;B;B	0.10450	0.005;0.005;0.005	T	0.23440	-1.0188	10	0.02654	T	1	0.2111	1.8435	0.03155	0.4877:0.136:0.239:0.1373	.	122;146;122	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	T	122;122;146;122;122;119	ENSP00000448289:A122T;ENSP00000449841:A122T;ENSP00000448680:A146T	ENSP00000266813:A119T	A	+	1	0	C12orf52	112113559	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.882000	0.00714	-0.826000	0.04284	0.655000	0.94253	GCC	C12orf52	-	NULL		0.632	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf52	HGNC	protein_coding	OTTHUMT00000405239.1	G			113629176	1	no_errors	ENST00000436053	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113629176	G	A	113629176	3	1	108	1	0	0	0	0	1	0	0	0	1701	1087	38	2	370	2	C12orf52	12	113629176	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	1881179	113629176	20222719	119	16149										
KNTC1	9735	genome.wustl.edu	37	chr12	123019305	123019305	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	attgcttgacagtatttgtaGatcacttcaattgcatcttg	7	7	3	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:123019305G>C	ENST00000333479.7	+	3	401	c.224G>C	c.(223-225)aGa>aCa	p.R75T	KNTC1_ENST00000450485.2_Missense_Mutation_p.R75T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	75					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGTATTTGTAGATCACTTCAA	0.373																																																	0													148	134	138					12																	123019305		1885	4111	5996	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.224G>C	12.37:g.123019305G>C	ENSP00000328236:p.Arg75Thr		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R75T	ENST00000333479.7	37	c.224	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916346	0.33815	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.36878	1.23;1.23	5.76	3.93	0.45458	.	0.121663	0.56097	D	0.000024	T	0.17450	0.0419	N	0.14661	0.345	0.80722	D	1	B;B	0.32245	0.361;0.201	B;B	0.26969	0.075;0.037	T	0.06391	-1.0829	10	0.38643	T	0.18	-15.6049	5.6871	0.17809	0.3594:0.0:0.6406:0.0	.	75;75	E7ES84;P50748	.;KNTC1_HUMAN	T	75	ENSP00000397992:R75T;ENSP00000328236:R75T	ENSP00000328236:R75T	R	+	2	0	KNTC1	121585258	0.989000	0.36119	0.997000	0.53966	0.994000	0.84299	1.714000	0.37961	1.438000	0.47492	0.655000	0.94253	AGA	KNTC1	-	superfamily_WD40_repeat_dom		0.373	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123019305	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123019305	G	C	123019305	3	2	108	1	0	0	0	0	1	0	0	0	8448	942	33	1	230	1	KNTC1	12	123019305	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	9390129	123019305	10832590	120	16150										
KNTC1	9735	genome.wustl.edu	37	chr12	123089427	123089427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttggaattgtttaaaaggacGaaaaacgtgaaaaagccgag	11	4	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:123089427G>A	ENST00000333479.7	+	50	5356	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	KNTC1_ENST00000537348.1_Missense_Mutation_p.E152K|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1727					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAAAAGGACGAAAAACGTGA	0.448																																																	0													26	24	24					12																	123089427		1847	4109	5956	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5179G>A	12.37:g.123089427G>A	ENSP00000328236:p.Glu1727Lys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E1727K	ENST00000333479.7	37	c.5179	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624557	0.87560	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.31247	1.5;1.5	5.71	5.71	0.89125	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.324624	0.37178	N	0.002219	T	0.48642	0.1511	L	0.57536	1.79	0.49213	D	0.99976	D	0.60575	0.988	P	0.56163	0.793	T	0.35151	-0.9800	10	0.48119	T	0.1	-12.7588	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1727	P50748	KNTC1_HUMAN	K	1727;152	ENSP00000328236:E1727K;ENSP00000443622:E152K	ENSP00000328236:E1727K	E	+	1	0	KNTC1	121655380	1.000000	0.71417	0.918000	0.36340	0.827000	0.46813	4.104000	0.57790	2.697000	0.92050	0.591000	0.81541	GAA	KNTC1	-	pfam_RZZ-complex_KNTC1/ROD_C		0.448	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123089427	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123089427	G	A	123089427	3	1	108	1	0	0	0	0	1	0	0	0	8448	1059	37	1	5373	1	KNTC1	12	123089427	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	70122	123089427	10762468	121	16151										
FZD10	11211	genome.wustl.edu	37	chr12	130648279	130648279	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	taccccgagcgccccatcatCttcctctccatgtgctactg	6	18	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr12:130648279C>T	ENST00000229030.4	+	1	1276	c.792C>T	c.(790-792)atC>atT	p.I264I	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.L232F			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	264					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCCCCATCATCTTCCTCTCCA	0.662																																																	0													116	110	112					12																	130648279		2203	4300	6503	SO:0001819	synonymous_variant	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.792C>T	12.37:g.130648279C>T				Missense_Mutation	SNP	NULL	p.L232F	ENST00000229030.4	37	c.694	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821323	0.32237	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.87	3.96	0.45880	.	.	.	.	.	T	0.73644	0.3613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76958	-0.2766	5	0.87932	D	0	.	13.4818	0.61340	0.0:0.9221:0.0:0.0779	.	.	.	.	F	232	.	ENSP00000438460:L232F	L	+	1	0	FZD10	129214232	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.767000	0.62286	0.999000	0.39023	0.561000	0.74099	CTT	FZD10	-	NULL		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		C			130648279	1	no_errors	ENST00000539839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130648279	C	T	130648279	2	4	108	1	0	0	0	0	0	0	0	1	6147	903	32	1		1	FZD10	12	130648279	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	7558852	130648279	3203616	122	16152										
HMGB1	3146	genome.wustl.edu	37	chr13	31037714	31037714	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aaaactctgagaagttgactGaagcatctgggtgcttcttc	10	8	3	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr13:31037714G>A	ENST00000405805.1	-	2	1044	c.104C>T	c.(103-105)tCa>tTa	p.S35L	HMGB1_ENST00000326004.4_Missense_Mutation_p.S35L|HMGB1_ENST00000399489.1_Missense_Mutation_p.S35L|HMGB1_ENST00000399494.1_Missense_Mutation_p.S35L|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Missense_Mutation_p.S35L|HMGB1_ENST00000341423.5_Missense_Mutation_p.S35L			P09429	HMGB1_HUMAN	high mobility group box 1	35					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		GAAGTTGACTGAAGCATCTGG	0.418																																																	0													119	124	122					13																	31037714		2203	4297	6500	SO:0001583	missense	3146			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.104C>T	13.37:g.31037714G>A	ENSP00000384678:p.Ser35Leu		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S35L	ENST00000405805.1	37	c.104	CCDS9335.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.524202	0.96431	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000426225;ENST00000326004;ENST00000398908	T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.53	5.53	0.82687	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.153979	0.30419	N	0.009672	T	0.51787	0.1695	M	0.90870	3.155	0.80722	D	1	B;P;B	0.36616	0.108;0.561;0.138	B;P;B	0.50617	0.303;0.646;0.415	T	0.54689	-0.8256	10	0.44086	T	0.13	.	19.4593	0.94910	0.0:0.0:1.0:0.0	.	35;35;35	B7Z965;P09429;Q5T7C4	.;HMGB1_HUMAN;.	L	35	ENSP00000384678:S35L;ENSP00000343040:S35L;ENSP00000345347:S35L;ENSP00000382412:S35L;ENSP00000382417:S35L;ENSP00000369904:S35L;ENSP00000410465:S35L	ENSP00000369904:S35L	S	-	2	0	HMGB1	29935714	1.000000	0.71417	0.971000	0.41717	0.998000	0.95712	9.710000	0.98732	2.596000	0.87737	0.549000	0.68633	TCA	HMGB1	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.418	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	HGNC	protein_coding	OTTHUMT00000303998.2	G	NM_002128		31037714	-1	no_errors	ENST00000339872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31037714	G	A	31037714	3	1	108	1	0	0	0	0	1	0	0	0	7245	1294	45	1	559	1	HMGB1	13	31037714	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		31037714	84132164	123	16153										
OLFM4	10562	genome.wustl.edu	37	chr13	53624523	53624523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atgttgcttggcaagatattGactttgctgtggatgagaat	12	4	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr13:53624523G>A	ENST00000219022.2	+	5	1228	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	384	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAAGATATTGACTTTGCTGT	0.413																																																	0													211	208	209					13																	53624523		2203	4300	6503	SO:0001583	missense	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1150G>A	13.37:g.53624523G>A	ENSP00000219022:p.Asp384Asn		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.D384N	ENST00000219022.2	37	c.1150	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.583622	0.96578	.	.	ENSG00000102837	ENST00000219022	D	0.94280	-3.39	5.92	5.92	0.95590	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97833	1.0264	10	0.87932	D	0	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	384	Q6UX06	OLFM4_HUMAN	N	384	ENSP00000219022:D384N	ENSP00000219022:D384N	D	+	1	0	OLFM4	52522524	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.801000	0.96364	0.650000	0.86243	GAC	OLFM4	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like		0.413	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2	G	NM_006418		53624523	1	no_errors	ENST00000219022	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53624523	G	A	53624523	3	1	108	1	0	0	0	0	1	0	0	0	10879	1290	45	1	1168	1	OLFM4	13	53624523	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	22586809	53624523	61545355	124	16154										
SLITRK6	84189	genome.wustl.edu	37	chr13	86368132	86368132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctccatctatgtttgctgctCcaggacttctaaatagtcag	7	11	3	0	rs368371577		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr13:86368132C>G	ENST00000400286.2	-	2	3110	c.2512G>C	c.(2512-2514)Gag>Cag	p.E838Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	838					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTTTGCTGCTCCAGGACTTCT	0.393																																																	0													84	77	79					13																	86368132		1866	4103	5969	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2512G>C	13.37:g.86368132C>G	ENSP00000383143:p.Glu838Gln		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E838Q	ENST00000400286.2	37	c.2512	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286036	0.80803	.	.	ENSG00000184564	ENST00000400286	T	0.73258	-0.73	6.0	6.0	0.97389	.	0.000000	0.64402	U	0.000002	D	0.82416	0.5032	L	0.55213	1.73	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.82657	-0.0349	10	0.87932	D	0	-2.769	19.0603	0.93090	0.0:1.0:0.0:0.0	.	838	Q9H5Y7	SLIK6_HUMAN	Q	838	ENSP00000383143:E838Q	ENSP00000383143:E838Q	E	-	1	0	SLITRK6	85266133	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.456000	0.80751	2.848000	0.98002	0.637000	0.83480	GAG	SLITRK6	-	NULL		0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86368132	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86368132	C	G	86368132	3	3	108	1	0	0	0	0	1	0	0	0	14777	864	30	1	17	1	SLITRK6	13	86368132	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	32743609	86368132	28801746	125	16155										
FBXO34	55030	genome.wustl.edu	37	chr14	55817459	55817459	+	Frame_Shift_Del	DEL	G	G	-													0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtgaaacctggaaataccaaGgaaaaaattgcattctttgc							TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr14:55817459delG	ENST00000313833.4	+	2	596	c.351delG	c.(349-351)aagfs	p.K117fs	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Frame_Shift_Del_p.K117fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	117								p.K117N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAAATACCAAGGAAAAAATTG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											58	62	60					14																	55817459		2203	4300	6503	SO:0001589	frameshift_variant	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.351delG	14.37:g.55817459delG	ENSP00000313159:p.Lys117fs		Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Del	DEL	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E118fs	ENST00000313833.4	37	c.351	CCDS32086.1	14																																																																																			FBXO34	-	NULL		0.408	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	G			55817459	1	no_errors	ENST00000313833	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	55817459	G	-	55817459	7	5	108	1	0	1	0	1	0	0	0	0	5762	991	35	0	353	0	FBXO34	14	55817459	Frame_Shift_Del	DEL	G	TCGA-EK-A2RD-01A-12D-A20U-09		55817459	51532081	126	16156										
KIF26A	26153	genome.wustl.edu	37	chr14	104641823	104641823	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cgatggctgccagcacccctCgaggcagttctggtccagac	12	15	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr14:104641823C>G	ENST00000423312.2	+	12	2698	c.2698C>G	c.(2698-2700)Cga>Gga	p.R900G	KIF26A_ENST00000315264.7_Missense_Mutation_p.R761G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	900					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCCCTCGAGGCAGTTC	0.692																																																	0													10	14	13					14																	104641823		1967	4114	6081	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2698C>G	14.37:g.104641823C>G	ENSP00000388241:p.Arg900Gly		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R900G	ENST00000423312.2	37	c.2698	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750978	0.31046	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.79454	-1.26;-1.27	3.97	3.05	0.35203	.	.	.	.	.	T	0.64000	0.2559	L	0.34521	1.04	0.09310	N	1	B	0.34372	0.451	B	0.31337	0.128	T	0.51004	-0.8760	9	0.22706	T	0.39	.	9.5496	0.39301	0.0:0.8987:0.0:0.1013	.	900	Q9ULI4	KI26A_HUMAN	G	900;761	ENSP00000388241:R900G;ENSP00000325452:R761G	ENSP00000325452:R761G	R	+	1	2	KIF26A	103711576	0.000000	0.05858	0.025000	0.17156	0.147000	0.21601	-0.096000	0.11059	1.925000	0.55765	0.462000	0.41574	CGA	KIF26A	-	NULL		0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104641823	1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	0.062	G	G	104641823	C	G	104641823	3	3	108	1	0	0	0	0	1	0	0	0	8314	876	31	1	2744	1	KIF26A	14	104641823	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	48824364	104641823	2707717	127	16157										
NDN	4692	genome.wustl.edu	37	chr15	23932065	23932065	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cacatgagctcgtgcgccttCtgcaccagctgcgccggggc	13	16	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:23932065C>T	ENST00000331837.4	-	1	385	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	100	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q100Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTGCGCCTTCTGCACCAGCT	0.662									Prader-Willi syndrome																																								1	Substitution - coding silent(1)	lung(1)											50	47	48					15																	23932065		2203	4300	6503	SO:0001819	synonymous_variant	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.300G>A	15.37:g.23932065C>T			B2R6Z5	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.Q100	ENST00000331837.4	37	c.300	CCDS10014.1	15																																																																																			NDN	-	pfscan_MAGE		0.662	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	C	NM_002487		23932065	-1	no_errors	ENST00000331837	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23932065	C	T	23932065	2	4	108	1	0	0	0	0	0	0	0	1	10271	912	32	1		1	NDN	15	23932065	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		23932065	78599327	128	16158										
OCA2	4948	genome.wustl.edu	37	chr15	28116342	28116342	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttgtcaatcagggacgacgcCagggctgagacccacaccac	11	14	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:28116342C>A	ENST00000354638.3	-	21	2357	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	OCA2_ENST00000353809.5_Silent_p.L710L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	734					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.L734L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGGACGACGCCAGGGCTGAGA	0.577									Oculocutaneous Albinism																																								1	Substitution - coding silent(1)	lung(1)											157	122	134					15																	28116342		2203	4300	6503	SO:0001819	synonymous_variant	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2202G>T	15.37:g.28116342C>A			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.L734	ENST00000354638.3	37	c.2202	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB		0.577	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	C	NM_000275		28116342	-1	no_errors	ENST00000354638	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28116342	C	A	28116342	2	1	108	1	0	0	0	0	0	0	0	1	10839	581	21	4		4	OCA2	15	28116342	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	4184277	28116342	74415050	129	16159										
THBS1	7057	genome.wustl.edu	37	chr15	39874405	39874405	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtctaacagagtctggcggaGacaacagcgtgtttgacatc	12	9	2	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:39874405G>C	ENST00000260356.5	+	3	244	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	27					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GTCTGGCGGAGACAACAGCGT	0.602																																																	0													36	40	39					15																	39874405		2200	4296	6496	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.79G>C	15.37:g.39874405G>C	ENSP00000260356:p.Asp27His		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D27H	ENST00000260356.5	37	c.79	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641505	0.87859	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.80304	-1.36;0.32	5.17	5.17	0.71159	Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37955	N	0.001870	D	0.89139	0.6630	M	0.72118	2.19	0.53688	D	0.999977	D	0.76494	0.999	D	0.79108	0.992	D	0.90002	0.4115	10	0.87932	D	0	-32.0138	17.8338	0.88690	0.0:0.0:1.0:0.0	.	27	P07996	TSP1_HUMAN	H	27	ENSP00000260356:D27H;ENSP00000380720:D27H	ENSP00000260356:D27H	D	+	1	0	THBS1	37661697	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.371000	0.97162	2.684000	0.91462	0.563000	0.77884	GAC	THBS1	-	smart_Laminin_G		0.602	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	G	NM_003246		39874405	1	no_errors	ENST00000260356	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39874405	G	C	39874405	3	2	108	1	0	0	0	0	1	0	0	0	15883	942	33	1	85	1	THBS1	15	39874405	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	11758063	39874405	62656987	130	16160										
ZFYVE19	84936	genome.wustl.edu	37	chr15	41106171	41106171	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tggaccccaggcctgaggctGaggaagaggagctcccctgg	16	12	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:41106171G>A	ENST00000355341.4	+	10	1741	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ZFYVE19_ENST00000564258.1_Missense_Mutation_p.E239K|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.E346K|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.E404K|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.E391K	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	414	Poly-Glu.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTGAGGCTGAGGAAGAGGA	0.617																																																	0													78	79	79					15																	41106171		2021	4203	6224	SO:0001583	missense	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1240G>A	15.37:g.41106171G>A	ENSP00000347498:p.Glu414Lys		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E414K	ENST00000355341.4	37	c.1240	CCDS42025.1	15	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288952	0.80914	.	.	ENSG00000166140	ENST00000355341;ENST00000299173;ENST00000336455	T;T;T	0.16897	2.31;2.31;2.31	5.93	4.07	0.47477	.	0.400645	0.28778	N	0.014177	T	0.23330	0.0564	L	0.56769	1.78	0.35698	D	0.815386	B;P;B	0.50943	0.176;0.94;0.415	B;P;B	0.49799	0.037;0.622;0.093	T	0.22626	-1.0211	10	0.33940	T	0.23	-15.3776	9.5953	0.39569	0.1618:0.0:0.8382:0.0	.	404;346;414	Q96K21-2;Q96K21-3;Q96K21	.;.;ZFY19_HUMAN	K	414;346;404	ENSP00000347498:E414K;ENSP00000299173:E346K;ENSP00000337824:E404K	ENSP00000299173:E346K	E	+	1	0	ZFYVE19	38893463	1.000000	0.71417	0.808000	0.32385	0.973000	0.67179	4.159000	0.58157	1.526000	0.49068	0.561000	0.74099	GAG	ZFYVE19	-	superfamily_Znf_FYVE_PHD		0.617	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	HGNC	protein_coding	OTTHUMT00000418996.1	G	NM_032850		41106171	1	no_errors	ENST00000355341	ensembl	human	known	70_37	missense	SNP	0.982	A	A	41106171	G	A	41106171	3	1	108	1	0	0	0	0	1	0	0	0	17695	1291	45	1	1278	1	ZFYVE19	15	41106171	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	1231766	41106171	61425221	131	16161										
MNS1	55329	genome.wustl.edu	37	chr15	56735844	56735844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttattttaataccgcattctGaagctgtagccttttctcct	5	10	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:56735844G>A	ENST00000260453.3	-	6	1059	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	299	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ACCGCATTCTGAAGCTGTAGC	0.303																																																	0													149	145	146					15																	56735844		2192	4292	6484	SO:0001587	stop_gained	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.895C>T	15.37:g.56735844G>A	ENSP00000260453:p.Gln299*		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	NULL	p.Q299*	ENST00000260453.3	37	c.895	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.251728	0.95336	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.44	2.04	0.26737	.	0.449072	0.25968	N	0.027155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-3.7891	14.8279	0.70128	0.0:0.0:0.6167:0.3833	.	.	.	.	X	299	.	ENSP00000260453:Q299X	Q	-	1	0	MNS1	54523136	1.000000	0.71417	0.990000	0.47175	0.827000	0.46813	4.442000	0.59988	0.599000	0.29845	0.637000	0.83480	CAG	MNS1	-	NULL		0.303	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	G	NM_018365		56735844	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	nonsense	SNP	0.843	A	A	56735844	G	A	56735844	4	1	108	1	0	0	0	0	0	1	0	0	9700	1299	45	1	612	1	MNS1	15	56735844	Nonsense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	15629673	56735844	45795548	132	16162										
NARG2	79664	genome.wustl.edu	37	chr15	60760317	60760317	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gctttggaatttgcaggaatCtttgcgtatttaaccaacaa	8	7	1	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:60760317C>G	ENST00000261520.4	-	4	585	c.351G>C	c.(349-351)aaG>aaC	p.K117N	NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Missense_Mutation_p.K117N|NARG2_ENST00000439632.1_5'UTR	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTGCAGGAATCTTTGCGTATT	0.358																																																	0													96	89	91					15																	60760317		2203	4300	6503	SO:0001583	missense	79664																														ENST00000261520.4:c.351G>C	15.37:g.60760317C>G	ENSP00000261520:p.Lys117Asn			Missense_Mutation	SNP	pfam_NARG2_C	p.K117N	ENST00000261520.4	37	c.351	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569743	0.28003	.	.	ENSG00000128915	ENST00000261520	.	.	.	5.98	1.19	0.21007	.	0.298915	0.33875	N	0.004467	T	0.32346	0.0826	L	0.29908	0.895	0.51767	D	0.999935	B	0.20052	0.041	B	0.17433	0.018	T	0.07139	-1.0788	9	0.39692	T	0.17	-9.9545	2.7717	0.05336	0.2291:0.3186:0.0:0.4523	.	117	Q659A1	NARG2_HUMAN	N	117	.	ENSP00000261520:K117N	K	-	3	2	NARG2	58547609	0.344000	0.24827	0.870000	0.34147	0.750000	0.42670	0.478000	0.22212	0.308000	0.22923	0.655000	0.94253	AAG	NARG2	-	NULL		0.358	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	HGNC	protein_coding	OTTHUMT00000256136.1	C			60760317	-1	no_errors	ENST00000261520	ensembl	human	known	70_37	missense	SNP	0.464	G	G	60760317	C	G	60760317	3	3	108	1	0	0	0	0	1	0	0	0	10192	912	32	1	2649	1	NARG2	15	60760317	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	4024473	60760317	41771075	133	16163										
LARP6	55323	genome.wustl.edu	37	chr15	71128664	71128664	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gatgtgagtagcttaacgctCacatatcccagcttgttcct	8	11	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:71128664C>T	ENST00000299213.8	-	2	451	c.381G>A	c.(379-381)gtG>gtA	p.V127V		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	127	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTAACGCTCACATATCCCA	0.413																																																	0													116	113	114					15																	71128664		2199	4297	6496	SO:0001819	synonymous_variant	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.381G>A	15.37:g.71128664C>T			Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.V127	ENST00000299213.8	37	c.381	CCDS32281.1	15																																																																																			LARP6	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La		0.413	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	C	NM_018357		71128664	-1	no_errors	ENST00000299213	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71128664	C	T	71128664	2	4	108	1	0	0	0	0	0	0	0	1	8652	813	29	1		1	LARP6	15	71128664	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	10368347	71128664	31402728	134	16164			3	68		3	3	159	C		4.620226e-07
LARP6	55323	genome.wustl.edu	37	chr15	71128729	71128729	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtccttctccaggttttcatCagaaaagtagaattcgatct	7	9	4	2	rs140759060	byFrequency	TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:71128729C>G	ENST00000299213.8	-	2	386	c.316G>C	c.(316-318)Gat>Cat	p.D106H		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	106	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTTTCATCAGAAAAGTAG	0.488																																																	0													122	122	122					15																	71128729		2199	4297	6496	SO:0001583	missense	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.316G>C	15.37:g.71128729C>G	ENSP00000299213:p.Asp106His		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.D106H	ENST00000299213.8	37	c.316	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642184	0.87859	.	.	ENSG00000166173	ENST00000299213	T	0.54479	0.57	5.58	5.58	0.84498	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89307	0.3630	10	0.87932	D	0	-27.6892	17.0704	0.86572	0.0:1.0:0.0:0.0	.	106	Q9BRS8	LARP6_HUMAN	H	106	ENSP00000299213:D106H	ENSP00000299213:D106H	D	-	1	0	LARP6	68915783	1.000000	0.71417	0.580000	0.28601	0.922000	0.55478	5.622000	0.67750	2.627000	0.88993	0.655000	0.94253	GAT	LARP6	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La		0.488	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	C	NM_018357		71128729	-1	no_errors	ENST00000299213	ensembl	human	known	70_37	missense	SNP	0.999	G	G	71128729	C	G	71128729	3	3	108	1	0	0	0	0	1	0	0	0	8652	826	29	1	1167	1	LARP6	15	71128729	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	65	71128729	31402663	135	16165			3	68		3	3	159	C		4.620226e-07
LARP6	55323	genome.wustl.edu	37	chr15	71128822	71128822	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	caggtcctcacgctcgttctCacctccacttgcagtggtgc	9	16	2	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:71128822C>T	ENST00000299213.8	-	2	293	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	75					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CGCTCGTTCTCACCTCCACTT	0.507																																																	0													73	75	74					15																	71128822		2199	4297	6496	SO:0001583	missense	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.223G>A	15.37:g.71128822C>T	ENSP00000299213:p.Glu75Lys		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.E75K	ENST00000299213.8	37	c.223	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764431	0.69878	.	.	ENSG00000166173	ENST00000299213	T	0.48836	0.8	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.60415	0.874	T	0.39603	-0.9606	10	0.20046	T	0.44	-33.4779	17.0704	0.86572	0.0:1.0:0.0:0.0	.	75	Q9BRS8	LARP6_HUMAN	K	75	ENSP00000299213:E75K	ENSP00000299213:E75K	E	-	1	0	LARP6	68915876	1.000000	0.71417	0.924000	0.36721	0.401000	0.30781	6.867000	0.75511	2.627000	0.88993	0.655000	0.94253	GAG	LARP6	-	NULL		0.507	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	C	NM_018357		71128822	-1	no_errors	ENST00000299213	ensembl	human	known	70_37	missense	SNP	0.999	T	T	71128822	C	T	71128822	3	4	108	1	0	0	0	0	1	0	0	0	8652	835	29	1	1260	1	LARP6	15	71128822	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	93	71128822	31402570	136	16166			3	68		3	3	159	C		4.620226e-07
KIAA1199	57214	genome.wustl.edu	37	chr15	81221397	81221397	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	atgacgacggctccaagcaaGagataaagaacagcttgttt	10	8	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:81221397G>A	ENST00000394685.3	+	21	2913	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	KIAA1199_ENST00000356249.5_Missense_Mutation_p.E832K|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E832K|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		832					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCCAAGCAAGAGATAAAGAA	0.527																																																	0													139	130	133					15																	81221397		2203	4300	6503	SO:0001583	missense	57214																														ENST00000394685.3:c.2494G>A	15.37:g.81221397G>A	ENSP00000378177:p.Glu832Lys		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.E832K	ENST00000394685.3	37	c.2494	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656202	0.67586	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.59224	0.28;0.28;0.28	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.132075	0.49916	D	0.000132	T	0.46737	0.1408	L	0.42686	1.345	0.41357	D	0.987402	P	0.42456	0.78	B	0.38106	0.265	T	0.40021	-0.9585	10	0.15499	T	0.54	-46.2994	13.8987	0.63790	0.0:0.1522:0.8478:0.0	.	832	Q8WUJ3	K1199_HUMAN	K	832	ENSP00000220244:E832K;ENSP00000378177:E832K;ENSP00000348583:E832K	ENSP00000220244:E832K	E	+	1	0	KIAA1199	79008452	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.572000	0.60886	2.518000	0.84900	0.655000	0.94253	GAG	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence		0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	G			81221397	1	no_errors	ENST00000220244	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81221397	G	A	81221397	3	1	108	1	0	0	0	0	1	0	0	0	8233	943	33	1	2568	1	KIAA1199	15	81221397	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	10092575	81221397	21309995	137	16167										
C15orf42	90381	genome.wustl.edu	37	chr15	90150020	90150020	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agaactctcaccctgctcctCagcagccttcccagccagtg	7	18	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:90150020C>T	ENST00000268138.7	+	14	2791	c.2686C>T	c.(2686-2688)Cag>Tag	p.Q896*	KIF7_ENST00000558928.1_5'Flank|TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q895*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	896					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCCTGCTCCTCAGCAGCCTTC	0.348																																																	0													89	82	84					15																	90150020		1833	4095	5928	SO:0001587	stop_gained	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2686C>T	15.37:g.90150020C>T	ENSP00000268138:p.Gln896*		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	NULL	p.Q896*	ENST00000268138.7	37	c.2686	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	36	5.813879	0.96975	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.96	4.06	0.47325	.	0.619445	0.16746	N	0.201228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-2.9061	10.8536	0.46784	0.1467:0.7126:0.1408:0.0	.	.	.	.	X	896	.	ENSP00000268138:Q896X	Q	+	1	0	C15orf42	87951024	0.999000	0.42202	0.749000	0.31150	0.190000	0.23558	1.927000	0.40094	0.836000	0.34901	0.655000	0.94253	CAG	TICRR	-	NULL		0.348	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90150020	1	no_errors	ENST00000268138	ensembl	human	known	70_37	nonsense	SNP	0.985	T	T	90150020	C	T	90150020	4	4	108	1	0	0	0	0	0	1	0	0	1800	827	29	1	2740	1	C15orf42	15	90150020	Nonsense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	8928623	90150020	12381372	138	16168										
SYNM	23336	genome.wustl.edu	37	chr15	99671977	99671977	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cctctgaagtctggaggactGagcgaatgtcatatgaagga	13	7	3	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:99671977G>C	ENST00000560674.1	+	4	3023	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.E1137Q|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.E1137Q			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1138	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CTGGAGGACTGAGCGAATGTC	0.602																																					Pancreas(125;1071 1762 21750 40003 40381)												0													44	47	46					15																	99671977		2095	4230	6325	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2554G>C	15.37:g.99671977G>C	ENSP00000453040:p.Glu852Gln		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.E1137Q	ENST00000560674.1	37	c.3409		15	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471066	0.63625	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.91407	-2.84;-2.31	5.4	5.4	0.78164	.	.	.	.	.	D	0.95351	0.8491	.	.	.	0.42026	D	0.991004	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.95929	0.8937	8	0.87932	D	0	.	16.3251	0.82977	0.0:0.0:1.0:0.0	.	1138;1137	O15061;C9JIE4	SYNEM_HUMAN;.	Q	1137	ENSP00000336775:E1137Q;ENSP00000330469:E1137Q	ENSP00000330469:E1137Q	E	+	1	0	SYNM	97489500	1.000000	0.71417	0.942000	0.38095	0.485000	0.33311	4.461000	0.60115	2.508000	0.84585	0.655000	0.94253	GAG	SYNM	-	NULL		0.602	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	G	NM_145728		99671977	1	no_errors	ENST00000336292	ensembl	human	known	70_37	missense	SNP	0.996	C	C	99671977	G	C	99671977	3	2	108	1	0	0	0	0	1	0	0	0	15485	1291	45	1	3425	1	SYNM	15	99671977	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	9521957	99671977	2859415	139	16169										
SYNM	23336	genome.wustl.edu	37	chr15	99672256	99672256	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gctgcagacaatttcatgctGaaaaggagattatttttcag	9	6	2	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr15:99672256G>A	ENST00000336292.6	+	5	3808	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1231	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATTTCATGCTGAAAAGGAGAT	0.512																																					Pancreas(125;1071 1762 21750 40003 40381)												0													46	47	46					15																	99672256		1924	4130	6054	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3688G>A	15.37:g.99672256G>A	ENSP00000336775:p.Glu1230Lys		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.E1230K	ENST00000336292.6	37	c.3688		15	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635745	0.29068	.	.	ENSG00000182253	ENST00000336292	D	0.83335	-1.71	5.26	-3.21	0.05140	.	.	.	.	.	T	0.70395	0.3219	.	.	.	0.19575	N	0.999964	B	0.09022	0.002	B	0.08055	0.003	T	0.55522	-0.8128	8	0.35671	T	0.21	.	10.0468	0.42192	0.1411:0.2318:0.6271:0.0	.	1231	O15061	SYNEM_HUMAN	K	1230	ENSP00000336775:E1230K	ENSP00000336775:E1230K	E	+	1	0	SYNM	97489779	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	-0.576000	0.05854	-0.268000	0.09312	0.655000	0.94253	GAA	SYNM	-	NULL		0.512	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	HGNC	protein_coding		G	NM_145728		99672256	1	no_errors	ENST00000336292	ensembl	human	known	70_37	missense	SNP	0.000	A	A	99672256	G	A	99672256	3	1	108	1	0	0	0	0	1	0	0	0	15485	1291	45	1	3704	1	SYNM	15	99672256	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	279	99672256	2859136	140	16170										
ZNF597	146434	genome.wustl.edu	37	chr16	3487486	3487486	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tctaaggcaagctcgtcaagTtccatagactctaggcttaa	8	10	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:3487486T>A	ENST00000301744.4	-	4	448	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	71	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GCTCGTCAAGTTCCATAGACT	0.433																																																	0													77	78	78					16																	3487486		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.213A>T	16.37:g.3487486T>A	ENSP00000301744:p.Glu71Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E71D	ENST00000301744.4	37	c.213	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	T	6.098	0.386354	0.11524	.	.	ENSG00000167981	ENST00000301744	T	0.07444	3.19	4.91	1.48	0.22813	Krueppel-associated box (1);	0.294046	0.24762	N	0.035811	T	0.04588	0.0125	L	0.27944	0.81	0.21020	N	0.9998	P	0.37781	0.608	B	0.35413	0.202	T	0.42172	-0.9467	10	0.14656	T	0.56	-6.6669	6.4678	0.21991	0.0:0.2873:0.0:0.7127	.	71	Q96LX8	ZN597_HUMAN	D	71	ENSP00000301744:E71D	ENSP00000301744:E71D	E	-	3	2	ZNF597	3427487	0.000000	0.05858	0.186000	0.23195	0.810000	0.45777	-0.142000	0.10311	0.132000	0.18615	0.533000	0.62120	GAA	ZNF597	-	smart_Krueppel-associated_box		0.433	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	T	NM_152457		3487486	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.621	A	A	3487486	T	A	3487486	3	1	108	1	0	0	0	0	1	0	0	0	18057	1722	60	5	1065	5	ZNF597	16	3487486	Missense_Mutation	SNP	T	TCGA-EK-A2RD-01A-12D-A20U-09		3487486	86867267	141	16171										
GLIS2	84662	genome.wustl.edu	37	chr16	4387454	4387454	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	actcagctgccagcagcccaGaggcgttggcccctggctgg	14	15	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:4387454G>A	ENST00000262366.3	+	8	2325	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.E502K			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	502					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAGCAGCCCAGAGGCGTTGGC	0.692																																																	0													11	11	11					16																	4387454		2170	4250	6420	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1504G>A	16.37:g.4387454G>A	ENSP00000262366:p.Glu502Lys		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E502K	ENST00000262366.3	37	c.1504	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347285	0.61183	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.16324	2.35;2.35	5.52	5.52	0.82312	.	0.195954	0.45867	D	0.000332	T	0.12178	0.0296	N	0.24115	0.695	0.80722	D	1	P	0.42692	0.787	B	0.38056	0.264	T	0.02307	-1.1179	10	0.72032	D	0.01	.	11.6712	0.51401	0.0821:0.0:0.9179:0.0	.	502	Q9BZE0	GLIS2_HUMAN	K	502	ENSP00000262366:E502K;ENSP00000395547:E502K	ENSP00000262366:E502K	E	+	1	0	GLIS2	4327455	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	5.158000	0.64917	2.586000	0.87340	0.655000	0.94253	GAG	GLIS2	-	NULL		0.692	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	G	NM_032575		4387454	1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	0.999	A	A	4387454	G	A	4387454	3	1	108	1	0	0	0	0	1	0	0	0	6465	943	33	1	1526	1	GLIS2	16	4387454	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	899968	4387454	85967299	142	16172										
ZP2	7783	genome.wustl.edu	37	chr16	21221009	21221009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtgagcttttctgggtccagGatgtaagtgcagttcggcat	14	7	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:21221009G>A	ENST00000574002.1	-	5	755	c.273C>T	c.(271-273)atC>atT	p.I91I	ZP2_ENST00000219593.4_Silent_p.I91I|ZP2_ENST00000574091.1_Silent_p.I91I			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	91					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTGGGTCCAGGATGTAAGTGC	0.493																																																	0													183	158	167					16																	21221009		2199	4300	6499	SO:0001819	synonymous_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.273C>T	16.37:g.21221009G>A			B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.I91	ENST00000574002.1	37	c.273	CCDS10596.1	16																																																																																			ZP2	-	NULL		0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	G			21221009	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	silent	SNP	0.002	A	A	21221009	G	A	21221009	2	1	108	1	0	0	0	0	0	0	0	1	18246	1164	41	1		1	ZP2	16	21221009	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	16833555	21221009	69133744	143	16173										
NUPR1	26471	genome.wustl.edu	37	chr16	28549402	28549402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cttggtcaccagtttcctctCgtgcccgccagggctggggc	13	15	2	0	rs371618392		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:28549402C>G	ENST00000324873.6	-	2	453	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	NUPR1_ENST00000395641.2_Missense_Mutation_p.E81Q	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	63					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E63K(1)		breast(1)|large_intestine(1)|lung(1)	3						AGTTTCCTCTCGTGCCCGCCA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											124	141	135					16																	28549402		2197	4300	6497	SO:0001583	missense	26471			AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"candidate of metastasis 1"	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.187G>C	16.37:g.28549402C>G	ENSP00000315559:p.Glu63Gln		B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	pfam_Nuclear_phosphoprot_p8_DNA-bd	p.E63Q	ENST00000324873.6	37	c.187	CCDS10634.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.112137	0.94339	.	.	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.79287	0.4420	.	.	.	0.49483	D	0.999792	D	0.89917	1.0	D	0.91635	0.999	T	0.80647	-0.1289	8	0.62326	D	0.03	-24.4866	15.2482	0.73523	0.0:1.0:0.0:0.0	.	63	O60356	NUPR1_HUMAN	Q	63;81	.	ENSP00000315559:E63Q	E	-	1	0	NUPR1	28456903	0.998000	0.40836	0.998000	0.56505	0.989000	0.77384	4.683000	0.61679	2.748000	0.94277	0.655000	0.94253	GAG	NUPR1	-	pfam_Nuclear_phosphoprot_p8_DNA-bd		0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPR1	HGNC	protein_coding	OTTHUMT00000254692.2	C	NM_012385		28549402	-1	no_errors	ENST00000324873	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28549402	C	G	28549402	3	3	108	1	0	0	0	0	1	0	0	0	10800	893	31	1	65	1	NUPR1	16	28549402	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	7328393	28549402	61805351	144	16174										
NUPR1	26471	genome.wustl.edu	37	chr16	28550171	28550171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttcatccaggctggagtcctCgtcctccgggcctgggggct	14	14	1	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:28550171C>T	ENST00000324873.6	-	1	324	c.58G>A	c.(58-60)Gag>Aag	p.E20K	NUPR1_ENST00000395641.2_Missense_Mutation_p.E20K	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	20					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						CTGGAGTCCTCGTCCTCCGGG	0.627																																																	0													83	75	78					16																	28550171		2197	4300	6497	SO:0001583	missense	26471			AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"candidate of metastasis 1"	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.58G>A	16.37:g.28550171C>T	ENSP00000315559:p.Glu20Lys		B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	pfam_Nuclear_phosphoprot_p8_DNA-bd	p.E20K	ENST00000324873.6	37	c.58	CCDS10634.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.877753	0.97055	.	.	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.44	4.49	0.54785	.	0.107856	0.41938	D	0.000793	T	0.54727	0.1876	.	.	.	0.34361	D	0.690954	D	0.55385	0.971	P	0.48795	0.59	T	0.70528	-0.4847	8	0.87932	D	0	-4.8039	10.267	0.43460	0.0:0.9087:0.0:0.0913	.	20	O60356	NUPR1_HUMAN	K	20	.	ENSP00000315559:E20K	E	-	1	0	NUPR1	28457672	0.871000	0.30034	0.656000	0.29637	0.704000	0.40688	1.928000	0.40104	1.434000	0.47414	0.643000	0.83706	GAG	NUPR1	-	pfam_Nuclear_phosphoprot_p8_DNA-bd		0.627	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPR1	HGNC	protein_coding	OTTHUMT00000254692.2	C	NM_012385		28550171	-1	no_errors	ENST00000324873	ensembl	human	known	70_37	missense	SNP	0.929	T	T	28550171	C	T	28550171	3	4	108	1	0	0	0	0	1	0	0	0	10800	893	31	1	252	1	NUPR1	16	28550171	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	769	28550171	61804582	145	16175										
C16orf54	283897	genome.wustl.edu	37	chr16	29755964	29755964	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggctcaggggcccgatctgtCagcagggggaccgcagagcc	17	13	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:29755964C>G	ENST00000329410.3	-	2	404	c.309G>C	c.(307-309)ctG>ctC	p.L103L	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	103						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCCGATCTGTCAGCAGGGGGA	0.672																																																	0													9	10	10					16																	29755964		2168	4255	6423	SO:0001819	synonymous_variant	283897			AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.309G>C	16.37:g.29755964C>G			A6NJR6|Q8NAB0	Silent	SNP	NULL	p.L103	ENST00000329410.3	37	c.309	CCDS10652.1	16																																																																																			C16orf54	-	NULL		0.672	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf54	HGNC	protein_coding	OTTHUMT00000255158.1	C	NM_175900		29755964	-1	no_errors	ENST00000329410	ensembl	human	known	70_37	silent	SNP	0.178	G	G	29755964	C	G	29755964	2	3	108	1	0	0	0	0	0	0	0	1	1823	813	29	1		1	C16orf54	16	29755964	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	1205793	29755964	60598789	146	16176										
RBL2	5934	genome.wustl.edu	37	chr16	53504396	53504396	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccatccagcccctcagtgctCaggccctggctggaagtctg	11	16	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:53504396C>T	ENST00000262133.6	+	16	2484	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	783	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCAGTGCTCAGGCCCTGGC	0.532																																																	0													56	55	55					16																	53504396		2198	4300	6498	SO:0001587	stop_gained	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2347C>T	16.37:g.53504396C>T	ENSP00000262133:p.Gln783*		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Nonsense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,smart_Cyclin-like	p.Q783*	ENST00000262133.6	37	c.2347	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.807599	0.98501	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-11.8634	19.8354	0.96655	0.0:1.0:0.0:0.0	.	.	.	.	X	783;493	.	ENSP00000262133:Q783X	Q	+	1	0	RBL2	52061897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.061000	0.76699	2.686000	0.91538	0.555000	0.69702	CAG	RBL2	-	NULL		0.532	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	C	NM_005611		53504396	1	no_errors	ENST00000262133	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	53504396	C	T	53504396	4	4	108	1	0	0	0	0	0	1	0	0	13140	827	29	1	2409	1	RBL2	16	53504396	Nonsense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	23748432	53504396	36850357	147	16177										
ZNF778	197320	genome.wustl.edu	37	chr16	89294118	89294118	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtaaggactcacactggagaGaaaccatatgaatgtaaaga	10	6	1	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr16:89294118G>A	ENST00000433976.2	+	6	1670	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.E404E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACTGGAGAGAAACCATATG	0.488																																																	0													88	92	90					16																	89294118		2194	4299	6493	SO:0001819	synonymous_variant	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1338G>A	16.37:g.89294118G>A			Q08AG0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E446	ENST00000433976.2	37	c.1338	CCDS45550.1	16																																																																																			ZNF778	-	pfscan_Znf_C2H2		0.488	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	G	NM_182531		89294118	1	no_errors	ENST00000433976	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89294118	G	A	89294118	2	1	108	1	0	0	0	0	0	0	0	1	18181	933	33	1		1	ZNF778	16	89294118	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	35789722	89294118	1060635	148	16178										
USP43	124739	genome.wustl.edu	37	chr17	9596527	9596527	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccgaaggacagtcggcccctCtgtcactgggcagttgacag	13	13	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr17:9596527C>A	ENST00000285199.7	+	9	1533	c.1437C>A	c.(1435-1437)ctC>ctA	p.L479L	USP43_ENST00000570475.1_Silent_p.L479L|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	479	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCGGCCCCTCTGTCACTGGG	0.507																																																	0													48	45	46					17																	9596527		1921	4135	6056	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1437C>A	17.37:g.9596527C>A			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L479	ENST00000285199.7	37	c.1437	CCDS45610.1	17																																																																																			USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.507	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9596527	1	no_errors	ENST00000285199	ensembl	human	known	70_37	silent	SNP	0.811	A	A	9596527	C	A	9596527	2	1	108	1	0	0	0	0	0	0	0	1	17105	900	32	3		3	USP43	17	9596527	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		9596527	71598683	149	16179										
NF1	4763	genome.wustl.edu	37	chr17	29557345	29557345	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cgaaactgtgtcaattagttGaagtaatgatggcaaggaga	12	4	1	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr17:29557345G>A	ENST00000358273.4	+	23	3441	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	NF1_ENST00000356175.3_Missense_Mutation_p.E1020K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1020					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAATTAGTTGAAGTAATGAT	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											59	57	58					17																	29557345		2203	4299	6502	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3058G>A	17.37:g.29557345G>A	ENSP00000351015:p.Glu1020Lys		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E1020K	ENST00000358273.4	37	c.3058	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	.	16.35	3.099714	0.56183	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.11604	2.93;3.07;2.76	5.46	4.43	0.53597	Armadillo-type fold (1);	0.052520	0.85682	D	0.000000	T	0.15565	0.0375	M	0.81497	2.545	0.80722	D	1	B;B;B;B	0.24426	0.011;0.103;0.0;0.0	B;B;B;B	0.20384	0.006;0.029;0.002;0.004	T	0.02059	-1.1221	10	0.27785	T	0.31	.	12.2468	0.54574	0.0736:0.1327:0.7937:0.0	.	1020;70;1020;1020	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	K	1020;1020;686	ENSP00000351015:E1020K;ENSP00000348498:E1020K;ENSP00000389907:E686K	ENSP00000348498:E1020K	E	+	1	0	NF1	26581471	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	6.312000	0.72840	2.550000	0.86006	0.455000	0.32223	GAA	NF1	-	superfamily_ARM-type_fold		0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29557345	1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	0.998	A	A	29557345	G	A	29557345	3	1	108	1	0	0	0	0	1	0	0	0	10380	1291	45	1	3209	1	NF1	17	29557345	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	19960818	29557345	51637865	150	16180										
HOXB1	3211	genome.wustl.edu	37	chr17	46607954	46607954	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aaaatagcctccgtctccttCtgattgacccagagggtagt	9	11	2	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr17:46607954C>T	ENST00000239174.6	-	1	405	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E105K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	105					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.E105*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGTCTCCTTCTGATTGACCC	0.662																																																	1	Substitution - Nonsense(1)	large_intestine(1)											64	66	65					17																	46607954		2203	4300	6503	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.313G>A	17.37:g.46607954C>T	ENSP00000355140:p.Glu105Lys		Q4VB03	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E105K	ENST00000239174.6	37	c.313	CCDS32675.1	17	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064561	0.55432	.	.	ENSG00000120094	ENST00000239174	D	0.89343	-2.5	4.37	4.37	0.52481	.	0.152027	0.30791	N	0.008876	D	0.88507	0.6455	L	0.58810	1.83	0.50632	D	0.99988	P	0.52316	0.952	P	0.47075	0.536	D	0.86637	0.1889	10	0.21540	T	0.41	.	16.7235	0.85416	0.0:1.0:0.0:0.0	.	105	P14653	HXB1_HUMAN	K	105	ENSP00000355140:E105K	ENSP00000355140:E105K	E	-	1	0	HOXB1	43962953	1.000000	0.71417	0.926000	0.36857	0.701000	0.40568	6.968000	0.76086	2.266000	0.75297	0.643000	0.83706	GAA	HOXB1	-	NULL		0.662	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB1	HGNC	protein_coding	OTTHUMT00000358383.3	C			46607954	-1	no_errors	ENST00000239174	ensembl	human	known	70_37	missense	SNP	0.999	T	T	46607954	C	T	46607954	3	4	108	1	0	0	0	0	1	0	0	0	7319	922	32	1	600	1	HOXB1	17	46607954	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	17050609	46607954	34587256	151	16181										
DDX42	11325	genome.wustl.edu	37	chr17	61895487	61895487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tggataccgccatccagaaaGcagcagccgtcatactgatg	10	12	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr17:61895487G>A	ENST00000578681.1	+	19	3147	c.2546G>A	c.(2545-2547)aGc>aAc	p.S849N	DDX42_ENST00000457800.2_Missense_Mutation_p.S849N|DDX42_ENST00000389924.2_Missense_Mutation_p.S849N|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.S849N|DDX42_ENST00000359353.5_Missense_Mutation_p.S730N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	849	Gly-rich.|His-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATCCAGAAAGCAGCAGCCGT	0.592																																																	0													69	68	68					17																	61895487		2203	4300	6503	SO:0001583	missense	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2546G>A	17.37:g.61895487G>A	ENSP00000464050:p.Ser849Asn		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S849N	ENST00000578681.1	37	c.2546	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030696	0.19512	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.19532	2.14;2.14	4.98	4.98	0.66077	.	1.305700	0.04604	N	0.399079	T	0.27663	0.0680	L	0.47716	1.5	0.38903	D	0.957373	P;B	0.38922	0.651;0.18	B;B	0.35859	0.212;0.025	T	0.31641	-0.9936	10	0.56958	D	0.05	-7.7773	17.418	0.87506	0.0:0.0:1.0:0.0	.	395;849	B3KV84;Q86XP3	.;DDX42_HUMAN	N	849;849;566	ENSP00000374574:S849N;ENSP00000390121:S849N	ENSP00000352308:S566N	S	+	2	0	DDX42	59249219	0.995000	0.38212	0.954000	0.39281	0.433000	0.31745	3.566000	0.53805	2.585000	0.87301	0.467000	0.42956	AGC	DDX42	-	NULL		0.592	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	G	NM_007372		61895487	1	no_errors	ENST00000389924	ensembl	human	known	70_37	missense	SNP	0.996	A	A	61895487	G	A	61895487	3	1	108	1	0	0	0	0	1	0	0	0	4367	971	34	4	2612	4	DDX42	17	61895487	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	15287533	61895487	19299723	152	16182										
AXIN2	8313	genome.wustl.edu	37	chr17	63533495	63533495	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ttggagtggcttttgcatttCgagtagcagtaatactcgct	11	7	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr17:63533495C>T	ENST00000375702.5	-	5	1767	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	AXIN2_ENST00000307078.5_Silent_p.S553S			Q9Y2T1	AXIN2_HUMAN	axin 2	553					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTTTGCATTTCGAGTAGCAGT	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													113	106	108					17																	63533495		2203	4300	6503	SO:0001819	synonymous_variant	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1659G>A	17.37:g.63533495C>T			Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S553	ENST00000375702.5	37	c.1659		17																																																																																			AXIN2	-	NULL		0.627	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	C	NM_004655		63533495	-1	no_errors	ENST00000307078	ensembl	human	known	70_37	silent	SNP	0.001	T	T	63533495	C	T	63533495	2	4	108	1	0	0	0	0	0	0	0	1	1238	871	31	1		1	AXIN2	17	63533495	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	1638008	63533495	17661715	153	16183										
SOCS3	9021	genome.wustl.edu	37	chr17	76354722	76354722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcccagggagtggctgggcaGacggctgctcgggcacctcg	17	13	0	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr17:76354722G>A	ENST00000330871.2	-	2	870	c.455C>T	c.(454-456)tCt>tTt	p.S152F	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	152					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGGCTGGGCAGACGGCTGCTC	0.662																																																	0													16	20	19					17																	76354722		2189	4276	6465	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.455C>T	17.37:g.76354722G>A	ENSP00000330341:p.Ser152Phe		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S152F	ENST00000330871.2	37	c.455	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	G	5.287	0.238435	0.10023	.	.	ENSG00000184557	ENST00000330871	T	0.47528	0.84	3.73	2.66	0.31614	SH2 motif (1);	0.502040	0.18739	N	0.132508	T	0.26195	0.0639	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.11641	-1.0579	10	0.13470	T	0.59	-1.133	6.4521	0.21910	0.2142:0.0:0.7858:0.0	.	152	O14543	SOCS3_HUMAN	F	152	ENSP00000330341:S152F	ENSP00000330341:S152F	S	-	2	0	SOCS3	73866317	0.114000	0.22134	0.871000	0.34182	0.846000	0.48090	0.845000	0.27668	1.911000	0.55334	0.462000	0.41574	TCT	SOCS3	-	NULL		0.662	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	G			76354722	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	0.020	A	A	76354722	G	A	76354722	3	1	108	1	0	0	0	0	1	0	0	0	14945	942	33	1	226	1	SOCS3	17	76354722	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	12821227	76354722	4840488	154	16184										
FAM38B	63895	genome.wustl.edu	37	chr18	10705483	10705483	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gagccgaaggacagatgctcGaagctcacagccttgctgta	12	11	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr18:10705483G>A	ENST00000503781.3	-	37	5510	c.5511C>T	c.(5509-5511)ttC>ttT	p.F1837F	RP11-856M7.2_ENST00000584167.1_RNA|PIEZO2_ENST00000580640.1_Silent_p.F1862F|PIEZO2_ENST00000302079.6_Silent_p.F1837F	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1837					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										ACAGATGCTCGAAGCTCACAG	0.632																																																	0													61	69	66					18																	10705483		692	1591	2283	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.5511C>T	18.37:g.10705483G>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_DUF3595	p.F1862	ENST00000503781.3	37	c.5586		18																																																																																			PIEZO2	-	NULL		0.632	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	G	NM_022068		10705483	-1	no_errors	ENST00000580640	ensembl	human	novel	70_37	silent	SNP	0.034	A	A	10705483	G	A	10705483	2	1	108	1	0	0	0	0	0	0	0	1	5573	1049	37	1		1	FAM38B	18	10705483	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		10705483	67371765	155	16185										
FAM38B	63895	genome.wustl.edu	37	chr18	10857131	10857131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cttcgtgctttcttccaactCgccttcaacaccatctcctc	3	18	3	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr18:10857131C>T	ENST00000503781.3	-	6	570	c.571G>A	c.(571-573)Gag>Aag	p.E191K	PIEZO2_ENST00000580640.1_Missense_Mutation_p.E191K|PIEZO2_ENST00000302079.6_Missense_Mutation_p.E191K	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	191					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TCTTCCAACTCGCCTTCAACA	0.438																																																	0													182	152	161					18																	10857131		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.571G>A	18.37:g.10857131C>T	ENSP00000421377:p.Glu191Lys		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.E191K	ENST00000503781.3	37	c.571		18	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648347	0.67358	.	.	ENSG00000154864	ENST00000302079	T	0.73152	-0.72	5.26	5.26	0.73747	.	0.466367	0.25169	N	0.032618	T	0.69459	0.3113	L	0.29908	0.895	0.80722	D	1	.	.	.	.	.	.	T	0.63363	-0.6654	8	0.19590	T	0.45	-15.2501	19.2202	0.93793	0.0:1.0:0.0:0.0	.	.	.	.	K	191	ENSP00000303316:E191K	ENSP00000303316:E191K	E	-	1	0	FAM38B	10847131	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	5.168000	0.64978	2.621000	0.88768	0.591000	0.81541	GAG	PIEZO2	-	NULL		0.438	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10857131	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10857131	C	T	10857131	3	4	108	1	0	0	0	0	1	0	0	0	5573	893	31	1	7875	1	FAM38B	18	10857131	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	151648	10857131	67220117	156	16186										
LAMA3	3909	genome.wustl.edu	37	chr18	21390425	21390425	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gagttacaggacagcggtgtGacaggtgtctctcaggagct	15	8	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr18:21390425G>C	ENST00000313654.9	+	13	1940	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D567H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	567	Domain V.|Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACAGCGGTGTGACAGGTGTCT	0.557																																																	0													102	112	109					18																	21390425		2034	4204	6238	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1699G>C	18.37:g.21390425G>C	ENSP00000324532:p.Asp567His		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D567H	ENST00000313654.9	37	c.1699	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630898	0.87660	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.66995	-0.24;-0.24	5.02	5.02	0.67125	EGF-like, laminin (4);	.	.	.	.	D	0.86276	0.5894	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89531	0.3785	9	0.87932	D	0	.	18.1237	0.89579	0.0:0.0:1.0:0.0	.	567;567	Q6VU67;Q16787	.;LAMA3_HUMAN	H	567;567;565	ENSP00000324532:D567H;ENSP00000382432:D567H	ENSP00000324532:D567H	D	+	1	0	LAMA3	19644423	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.746000	0.91604	2.634000	0.89283	0.561000	0.74099	GAC	LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129		21390425	1	no_errors	ENST00000313654	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21390425	G	C	21390425	3	2	108	1	0	0	0	0	1	0	0	0	8627	1290	45	1	1749	1	LAMA3	18	21390425	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	10533294	21390425	56686823	157	16187										
WDR7	23335	genome.wustl.edu	37	chr18	54354104	54354104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aggatactgagccaatatttGaggaggaatccaaaccaatt	9	7	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr18:54354104G>C	ENST00000254442.3	+	7	827	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.E206Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	206					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCAATATTTGAGGAGGAATC	0.318																																																	0													76	68	71					18																	54354104		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.616G>C	18.37:g.54354104G>C	ENSP00000254442:p.Glu206Gln		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E206Q	ENST00000254442.3	37	c.616	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327881	0.81690	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.52754	0.65;0.65	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.76575	0.988;0.715	T	0.73697	-0.3901	10	0.56958	D	0.05	.	18.0761	0.89427	0.0:0.0:1.0:0.0	.	206;206	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Q	206	ENSP00000254442:E206Q;ENSP00000350187:E206Q	ENSP00000254442:E206Q	E	+	1	0	WDR7	52505102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.368000	0.97152	2.417000	0.82017	0.650000	0.86243	GAG	WDR7	-	superfamily_Quinonprotein_ADH-like		0.318	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	G			54354104	1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54354104	G	C	54354104	3	2	108	1	0	0	0	0	1	0	0	0	17351	1291	45	1	638	1	WDR7	18	54354104	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	32963679	54354104	23723144	158	16188										
CTDP1	9150	genome.wustl.edu	37	chr18	77457866	77457866	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ctttttaattgtagcaagctGaacagctgggaagagaagac	11	6	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr18:77457866G>A	ENST00000299543.7	+	4	646	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	CTDP1_ENST00000075430.7_Missense_Mutation_p.E167K	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	167					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GTAGCAAGCTGAACAGCTGGG	0.443																																																	0													75	74	74					18																	77457866		2203	4300	6503	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.499G>A	18.37:g.77457866G>A	ENSP00000299543:p.Glu167Lys		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.E167K	ENST00000299543.7	37	c.499	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864639	0.32977	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.11385	2.81;2.78	4.91	3.08	0.35506	.	0.096580	0.64402	N	0.000001	T	0.08044	0.0201	L	0.31065	0.9	0.58432	D	0.999993	B;P;P	0.47302	0.198;0.893;0.629	B;B;B	0.42030	0.133;0.373;0.129	T	0.38585	-0.9654	10	0.17832	T	0.49	-23.1059	10.975	0.47461	0.1539:0.0:0.8461:0.0	.	48;167;167	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	K	167	ENSP00000299543:E167K;ENSP00000075430:E167K	ENSP00000075430:E167K	E	+	1	0	CTDP1	75558854	1.000000	0.71417	0.013000	0.15412	0.003000	0.03518	4.731000	0.62022	1.192000	0.43071	0.655000	0.94253	GAA	CTDP1	-	NULL		0.443	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	G	NM_004715		77457866	1	no_errors	ENST00000299543	ensembl	human	known	70_37	missense	SNP	0.963	A	A	77457866	G	A	77457866	3	1	108	1	0	0	0	0	1	0	0	0	4007	1291	45	1	513	1	CTDP1	18	77457866	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	23103762	77457866	619382	159	16189										
LASS4	79603	genome.wustl.edu	37	chr19	8321838	8321838	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	caccgtctactgcaggatttCaaggagcaggtgatacacca	10	11	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:8321838C>G	ENST00000251363.5	+	9	918	c.618C>G	c.(616-618)ttC>ttG	p.F206L	CERS4_ENST00000558331.1_Missense_Mutation_p.F155L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.F206L|CERS4_ENST00000559450.1_Missense_Mutation_p.F206L	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	206	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGCAGGATTTCAAGGAGCAGG	0.572																																																	0													266	258	261					19																	8321838		2203	4300	6503	SO:0001583	missense	79603				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.618C>G	19.37:g.8321838C>G	ENSP00000251363:p.Phe206Leu		D6W665	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.F206L	ENST00000251363.5	37	c.618	CCDS12197.1	19	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410906	0.42817	.	.	ENSG00000090661	ENST00000251363	D	0.86030	-2.06	4.92	1.31	0.21738	TRAM/LAG1/CLN8 homology domain (3);	0.105629	0.64402	N	0.000003	D	0.87755	0.6257	M	0.90870	3.155	0.58432	D	0.999998	P;B	0.41848	0.763;0.332	P;B	0.48571	0.582;0.211	D	0.84040	0.0364	10	0.62326	D	0.03	-28.0353	2.0734	0.03618	0.1604:0.5072:0.1556:0.1768	.	206;206	Q53HF9;Q9HA82	.;CERS4_HUMAN	L	206	ENSP00000251363:F206L	ENSP00000251363:F206L	F	+	3	2	CERS4	8227838	0.998000	0.40836	0.999000	0.59377	0.041000	0.13682	0.451000	0.21779	0.449000	0.26747	-0.254000	0.11334	TTC	CERS4	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.572	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS4	HGNC	protein_coding	OTTHUMT00000419200.1	C	NM_024552		8321838	1	no_errors	ENST00000251363	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8321838	C	G	8321838	3	3	108	1	0	0	0	0	1	0	0	0	8661	825	29	1	644	1	LASS4	19	8321838	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		8321838	50807145	160	16190										
CCDC159	126075	genome.wustl.edu	37	chr19	11465310	11465310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cccctcctgggactctgactCcgactgtgaccaggacctct	9	17	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:11465310C>T	ENST00000588790.1	+	12	1274	c.827C>T	c.(826-828)tCc>tTc	p.S276F	DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.S276F			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	391										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GACTCTGACTCCGACTGTGAC	0.647																																																	0													32	39	36					19																	11465310		2200	4295	6495	SO:0001583	missense	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.827C>T	19.37:g.11465310C>T	ENSP00000468232:p.Ser276Phe		B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	NULL	p.S276F	ENST00000588790.1	37	c.827	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358983	0.61403	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.55413	0.52	4.2	4.2	0.49525	.	.	.	.	.	T	0.67335	0.2882	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.999;0.994	D;P	0.85130	0.997;0.857	T	0.55945	-0.8060	9	0.46703	T	0.11	-9.3614	12.2252	0.54455	0.0:1.0:0.0:0.0	.	391;276	P0C7I6;P0C7I6-2	CC159_HUMAN;.	F	276;391	ENSP00000402239:S276F	ENSP00000390400:S391F	S	+	2	0	CCDC159	11326310	0.032000	0.19561	0.023000	0.16930	0.099000	0.18886	2.065000	0.41442	2.349000	0.79799	0.491000	0.48974	TCC	CCDC159	-	NULL		0.647	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	C	NM_001080503		11465310	1	no_errors	ENST00000458408	ensembl	human	known	70_37	missense	SNP	0.016	T	T	11465310	C	T	11465310	3	4	108	1	0	0	0	0	1	0	0	0	2796	855	30	1	865	1	CCDC159	19	11465310	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	3143472	11465310	47663673	161	16191										
ZNF700	90592	genome.wustl.edu	37	chr19	12060821	12060821	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aaaagcattctgtaaattctCttcttttcaaatacatgaaa	3	7	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:12060821C>T	ENST00000254321.5	+	4	2125	c.1982C>T	c.(1981-1983)tCt>tTt	p.S661F	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.S643F|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTAAATTCTCTTCTTTTCAA	0.403																																																	0													60	58	59					19																	12060821		2203	4300	6503	SO:0001583	missense	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1982C>T	19.37:g.12060821C>T	ENSP00000254321:p.Ser661Phe		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S661F	ENST00000254321.5	37	c.1982	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	c	10.12	1.263005	0.23051	.	.	ENSG00000196757	ENST00000254321	T	0.37058	1.22	0.681	-0.901	0.10540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55273	0.1910	M	0.81942	2.565	0.09310	N	1	D	0.65815	0.995	D	0.72982	0.979	T	0.45145	-0.9281	9	0.72032	D	0.01	.	6.9412	0.24494	0.3003:0.6996:0.0:0.0	.	661	Q9H0M5	ZN700_HUMAN	F	661	ENSP00000254321:S661F	ENSP00000254321:S661F	S	+	2	0	ZNF700	11921821	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.757000	0.04772	-0.337000	0.08426	0.313000	0.20887	TCT	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	C	NM_144566		12060821	1	no_errors	ENST00000254321	ensembl	human	known	70_37	missense	SNP	0.034	T	T	12060821	C	T	12060821	3	4	108	1	0	0	0	0	1	0	0	0	18134	913	32	1	1996	1	ZNF700	19	12060821	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	595511	12060821	47068162	162	16192										
ZSWIM4	65249	genome.wustl.edu	37	chr19	13930181	13930181	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gttcctgcagggggtcccttCagtggctttggggaggtgct	17	9	1	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:13930181C>T	ENST00000254323.2	+	9	1773	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ZSWIM4_ENST00000440752.2_Silent_p.F362F	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	528							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGGTCCCTTCAGTGGCTTTG	0.637																																																	0													64	43	50					19																	13930181		2203	4300	6503	SO:0001819	synonymous_variant	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1584C>T	19.37:g.13930181C>T				Silent	SNP	pfscan_Znf_SWIM	p.F528	ENST00000254323.2	37	c.1584	CCDS32924.1	19																																																																																			ZSWIM4	-	NULL		0.637	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	C	XM_031342		13930181	1	no_errors	ENST00000254323	ensembl	human	known	70_37	silent	SNP	1.000	T	T	13930181	C	T	13930181	2	4	108	1	0	0	0	0	0	0	0	1	18273	825	29	1		1	ZSWIM4	19	13930181	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	1869360	13930181	45198802	163	16193										
MAST3	23031	genome.wustl.edu	37	chr19	18248147	18248147	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcgtgccccagctcgaagctGaggatgataccagctacttt	10	12	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:18248147G>A	ENST00000262811.6	+	18	1984	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	662	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCTCGAAGCTGAGGATGATAC	0.632																																																	0													77	81	79					19																	18248147		1971	4144	6115	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1984G>A	19.37:g.18248147G>A	ENSP00000262811:p.Glu662Lys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E662K	ENST00000262811.6	37	c.1984	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115376	0.77323	.	.	ENSG00000099308	ENST00000262811	T	0.24723	1.84	4.17	4.17	0.49024	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	M	0.83774	2.66	0.80722	D	1	B	0.31893	0.345	B	0.25987	0.065	T	0.44221	-0.9342	10	0.87932	D	0	-25.899	15.4848	0.75557	0.0:0.0:1.0:0.0	.	662	O60307	MAST3_HUMAN	K	662	ENSP00000262811:E662K	ENSP00000262811:E662K	E	+	1	0	MAST3	18109147	1.000000	0.71417	0.932000	0.37286	0.936000	0.57629	9.798000	0.99111	1.897000	0.54924	0.491000	0.48974	GAG	MAST3	-	superfamily_Kinase-like_dom		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	G	XM_038150		18248147	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18248147	G	A	18248147	3	1	108	1	0	0	0	0	1	0	0	0	9349	1291	45	1	2054	1	MAST3	19	18248147	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	4317966	18248147	40880836	164	16194										
ZNF492	57615	genome.wustl.edu	37	chr19	22846669	22846669	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aaaaattatttccaaaaagtGatactgagaagatataaaaa	5	3	0	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:22846669G>A	ENST00000456783.2	+	4	442	c.198G>A	c.(196-198)gtG>gtA	p.V66V	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TCCAAAAAGTGATACTGAGAA	0.303																																																	0													30	37	35					19																	22846669		1804	4104	5908	SO:0001819	synonymous_variant	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.198G>A	19.37:g.22846669G>A			Q08EI7|Q08EI8	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V66	ENST00000456783.2	37	c.198	CCDS46032.1	19																																																																																			ZNF492	-	NULL		0.303	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	G	NM_020855		22846669	1	no_errors	ENST00000456783	ensembl	human	known	70_37	silent	SNP	0.000	A	A	22846669	G	A	22846669	2	1	108	1	0	0	0	0	0	0	0	1	17973	1277	45	1		1	ZNF492	19	22846669	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	4598522	22846669	36282314	165	16195										
WTIP	126374	genome.wustl.edu	37	chr19	34991087	34991087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cgccgttgctatcccctggcGggccacctactgtgtcgtcg	12	16	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:34991087G>A	ENST00000590071.2	+	8	1543	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	WTIP_ENST00000270288.6_Silent_p.A626A	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	402	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCCCTGGCGGGCCACCTAC	0.657																																																	0													32	40	37					19																	34991087		2109	4217	6326	SO:0001819	synonymous_variant	126374			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1206G>A	19.37:g.34991087G>A				Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A626	ENST00000590071.2	37	c.1878	CCDS59375.1	19																																																																																			WTIP	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.657	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTIP	HGNC	protein_coding	OTTHUMT00000459381.3	G	XM_059037		34991087	1	no_errors	ENST00000270288	ensembl	human	known	70_37	silent	SNP	0.321	A	A	34991087	G	A	34991087	2	1	108	1	0	0	0	0	0	0	0	1	17441	1103	39	2		2	WTIP	19	34991087	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	12144418	34991087	24137896	166	16196										
SAMD4B	55095	genome.wustl.edu	37	chr19	39871358	39871358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gatgggcctcctgagcccctCgggcattgggggtgtctccc	15	14	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:39871358C>T	ENST00000314471.6	+	13	2816	c.1781C>T	c.(1780-1782)tCg>tTg	p.S594L	SAMD4B_ENST00000598913.1_Missense_Mutation_p.S594L|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGAGCCCCTCGGGCATTGGG	0.716																																																	0													11	13	12					19																	39871358		2186	4272	6458	SO:0001583	missense	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1781C>T	19.37:g.39871358C>T	ENSP00000317224:p.Ser594Leu		A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.S594L	ENST00000314471.6	37	c.1781	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480609	0.63849	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.74	4.74	0.60224	.	0.230034	0.32703	N	0.005749	T	0.47893	0.1470	L	0.42245	1.32	0.37888	D	0.930603	B;B	0.24132	0.098;0.098	B;B	0.15052	0.012;0.012	T	0.54702	-0.8254	9	0.66056	D	0.02	.	11.0125	0.47671	0.0:0.8116:0.1884:0.0	.	594;594	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	L	594	.	ENSP00000317224:S594L	S	+	2	0	SAMD4B	44563198	0.109000	0.22037	0.955000	0.39395	0.963000	0.63663	0.523000	0.22925	2.463000	0.83235	0.455000	0.32223	TCG	SAMD4B	-	NULL		0.716	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	C	NM_018028		39871358	1	no_errors	ENST00000314471	ensembl	human	known	70_37	missense	SNP	0.982	T	T	39871358	C	T	39871358	3	4	108	1	0	0	0	0	1	0	0	0	13852	893	31	1	1815	1	SAMD4B	19	39871358	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	4880271	39871358	19257625	167	16197										
MED25	81857	genome.wustl.edu	37	chr19	50339648	50339648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggcccgcacaacttccccctCgggctccactgccaggtaag	10	18	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:50339648C>T	ENST00000312865.6	+	17	2184	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	PTOV1-AS1_ENST00000596521.1_RNA|MED25_ENST00000538643.1_Missense_Mutation_p.R498W|PTOV1-AS1_ENST00000600742.1_RNA	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	711	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACTTCCCCCTCGGGCTCCACT	0.701																																					GBM(51;894 1657 37868)												0													7	7	7					19																	50339648		2134	4239	6373	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.2131C>T	19.37:g.50339648C>T	ENSP00000326767:p.Arg711Trp		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.R711W	ENST00000312865.6	37	c.2131	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436234	0.43224	.	.	ENSG00000104973	ENST00000355584;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000542221	T;T	0.80480	-1.35;-1.38	5.03	-8.75	0.00834	Mediator complex, subunit Med25, NR box (1);	.	.	.	.	T	0.62146	0.2404	N	0.24115	0.695	0.22811	N	0.998706	B;B;B	0.26195	0.056;0.144;0.056	B;B;B	0.17722	0.011;0.019;0.011	T	0.54180	-0.8332	9	0.87932	D	0	.	8.9486	0.35773	0.3215:0.549:0.0:0.1295	.	498;711;711	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	W	711;711;690;498;446;361	ENSP00000326767:R711W;ENSP00000437496:R498W	ENSP00000326767:R711W	R	+	1	2	MED25	55031460	0.002000	0.14202	0.002000	0.10522	0.399000	0.30720	-0.411000	0.07142	-1.342000	0.02222	0.563000	0.77884	CGG	MED25	-	pfam_Mediator_Med25_NR-box		0.701	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	C	NM_030973		50339648	1	no_errors	ENST00000312865	ensembl	human	known	70_37	missense	SNP	0.001	T	T	50339648	C	T	50339648	3	4	108	1	0	0	0	0	1	0	0	0	9466	875	31	1	2197	1	MED25	19	50339648	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	10468290	50339648	8789335	168	16198										
MYBPC2	4606	genome.wustl.edu	37	chr19	50961965	50961965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtcaacatcgcggggcgcagCgagccggccaccctggccca	14	17	1	0	rs376193301		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:50961965C>T	ENST00000357701.5	+	21	2511	c.2460C>T	c.(2458-2460)agC>agT	p.S820S		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	820	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.			S -> T (in Ref. 1; CAA51544). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGGGGCGCAGCGAGCCGGCCA	0.672																																																	0										0,4100		0,0,2050	26	34	31		2460	-2.3	0.9	19		31	1,8373		0,1,4186	no	coding-synonymous	MYBPC2	NM_004533.3		0,1,6236	TT,TC,CC		0.0119,0.0,0.0080		820/1142	50961965	1,12473	2050	4187	6237	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2460C>T	19.37:g.50961965C>T			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S820	ENST00000357701.5	37	c.2460	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50961965	1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.942	T	T	50961965	C	T	50961965	2	4	108	1	0	0	0	0	0	0	0	1	10035	767	27	2		2	MYBPC2	19	50961965	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	622317	50961965	8167018	169	16199										
ZNF534	147658	genome.wustl.edu	37	chr19	52942558	52942558	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	aatgaatgtagcaaggtcttCagtcggaattcacgccttgc	10	9	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:52942558C>T	ENST00000332323.6	+	4	1945	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	ZNF534_ENST00000433050.1_Silent_p.F615F|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GCAAGGTCTTCAGTCGGAATT	0.408																																																	0													52	49	50					19																	52942558		692	1591	2283	SO:0001819	synonymous_variant	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1884C>T	19.37:g.52942558C>T			Q76KX9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F628	ENST00000332323.6	37	c.1884	CCDS46165.1	19																																																																																			ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	C	NM_182512		52942558	1	no_errors	ENST00000332323	ensembl	human	known	70_37	silent	SNP	0.009	T	T	52942558	C	T	52942558	2	4	108	1	0	0	0	0	0	0	0	1	18003	825	29	1		1	ZNF534	19	52942558	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	1980593	52942558	6186425	170	16200										
ZNF611	81856	genome.wustl.edu	37	chr19	53209325	53209325	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ccttatcaattagaagggctGaattttgaccaaagatcttg	8	7	2	4			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:53209325G>A	ENST00000319783.1	-	7	1299	c.983C>T	c.(982-984)tCa>tTa	p.S328L	ZNF611_ENST00000543227.1_Missense_Mutation_p.S328L|ZNF611_ENST00000453741.2_Missense_Mutation_p.S259L|ZNF611_ENST00000595798.1_Missense_Mutation_p.S259L|ZNF611_ENST00000540744.1_Missense_Mutation_p.S328L|ZNF611_ENST00000602162.1_Missense_Mutation_p.S259L|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TAGAAGGGCTGAATTTTGACC	0.378																																																	0													108	103	105					19																	53209325		2203	4300	6503	SO:0001583	missense	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.983C>T	19.37:g.53209325G>A	ENSP00000322427:p.Ser328Leu		B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S328L	ENST00000319783.1	37	c.983	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026190	0.35701	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	1.38	1.38	0.22167	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38161	0.1030	M	0.79343	2.45	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06570	-1.0819	9	0.72032	D	0.01	.	7.2937	0.26380	0.0:0.2781:0.7219:0.0	.	328	Q8N823	ZN611_HUMAN	L	328;328;259;328	ENSP00000437616:S328L;ENSP00000439211:S328L;ENSP00000443505:S259L;ENSP00000322427:S328L	ENSP00000322427:S328L	S	-	2	0	ZNF611	57901137	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	-0.208000	0.09371	0.717000	0.32145	0.306000	0.20318	TCA	ZNF611	-	pfscan_Znf_C2H2		0.378	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	G	NM_030972		53209325	-1	no_errors	ENST00000319783	ensembl	human	known	70_37	missense	SNP	0.005	A	A	53209325	G	A	53209325	3	1	108	1	0	0	0	0	1	0	0	0	18067	1294	45	1	1138	1	ZNF611	19	53209325	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	266767	53209325	5919658	171	16201										
LILRA3	11026	genome.wustl.edu	37	chr19	54803724	54803724	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggtgatcacagagcctggctCagcccagagggtgggcttgg	17	10	2	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr19:54803724C>T	ENST00000251390.3	-	3	191	c.100G>A	c.(100-102)Gag>Aag	p.E34K	LILRA3_ENST00000391744.3_Missense_Mutation_p.E34K|LILRA3_ENST00000391745.1_Missense_Mutation_p.E51K	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	34	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCTGGCTCAGCCCAGAGG	0.552																																																	0													57	55	56					19																	54803724		2195	4180	6375	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.100G>A	19.37:g.54803724C>T	ENSP00000251390:p.Glu34Lys		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.E34K	ENST00000251390.3	37	c.100	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224326	0.58668	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.14022	2.54;2.54;2.54	2.39	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119717	0.37530	N	0.002058	T	0.29389	0.0732	M	0.82193	2.58	0.09310	N	1	P;P	0.42556	0.783;0.671	P;P	0.53102	0.718;0.495	T	0.03534	-1.1027	10	0.87932	D	0	.	8.3255	0.32153	0.0:1.0:0.0:0.0	.	34;34	E7EU74;Q8N6C8	.;LIRA3_HUMAN	K	34;34;51	ENSP00000251390:E34K;ENSP00000375624:E34K;ENSP00000375625:E51K	ENSP00000251390:E34K	E	-	1	0	LILRA3	59495536	0.175000	0.23083	0.329000	0.25429	0.323000	0.28346	0.315000	0.19451	1.375000	0.46248	0.485000	0.47835	GAG	LILRA3	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.552	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	C			54803724	-1	no_errors	ENST00000251390	ensembl	human	known	70_37	missense	SNP	0.288	T	T	54803724	C	T	54803724	3	4	108	1	0	0	0	0	1	0	0	0	8806	835	29	1	1239	1	LILRA3	19	54803724	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	1594399	54803724	4325259	172	16202										
GGT7	2686	genome.wustl.edu	37	chr20	33448099	33448099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	catgtagccccttcaccattCcgggaacccccaccaagagc	7	18	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr20:33448099C>T	ENST00000336431.5	-	5	745	c.701G>A	c.(700-702)gGa>gAa	p.G234E		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	234					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTTCACCATTCCGGGAACCCC	0.642																																																	0													60	57	58					20																	33448099		2203	4300	6503	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.701G>A	20.37:g.33448099C>T	ENSP00000338964:p.Gly234Glu		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.G234E	ENST00000336431.5	37	c.701	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761970	0.89932	.	.	ENSG00000131067	ENST00000336431	T	0.28454	1.61	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81331	-0.0981	10	0.87932	D	0	-25.5559	18.5639	0.91111	0.0:1.0:0.0:0.0	.	234;234	A4FU32;Q9UJ14	.;GGT7_HUMAN	E	234	ENSP00000338964:G234E	ENSP00000338964:G234E	G	-	2	0	GGT7	32911760	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.205000	0.77881	2.448000	0.82819	0.462000	0.41574	GGA	GGT7	-	pfam_GGT_peptidase,prints_GGT_peptidase		0.642	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	C	NM_178026		33448099	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	33448099	C	T	33448099	3	4	108	1	0	0	0	0	1	0	0	0	6383	855	30	1	1331	1	GGT7	20	33448099	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		33448099	29577421	173	16203										
IFT52	51098	genome.wustl.edu	37	chr20	42223455	42223455	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cggagtaattggaagattcaGaggtgactgaccatgtatat	12	5	1	4	rs202221752		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr20:42223455G>C	ENST00000373030.3	+	2	247	c.117G>C	c.(115-117)caG>caC	p.Q39H	IFT52_ENST00000373039.4_Missense_Mutation_p.Q39H	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	39					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAAGATTCAGAGGTGACTGA	0.363																																																	0													105	104	104					20																	42223455		2203	4300	6503	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.117G>C	20.37:g.42223455G>C	ENSP00000362121:p.Gln39His		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	pfam_ABC_transp_unknown	p.Q39H	ENST00000373030.3	37	c.117	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829321	0.50845	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.85	5.85	0.93711	ABC-type uncharacterised transport system (1);	0.054742	0.85682	D	0.000000	T	0.56834	0.2012	L	0.35854	1.095	0.58432	D	0.999999	B	0.14012	0.009	B	0.16722	0.016	T	0.48736	-0.9009	9	0.44086	T	0.13	-17.3325	19.3175	0.94220	0.0:0.0:1.0:0.0	.	39	Q9Y366	IFT52_HUMAN	H	39	.	ENSP00000362121:Q39H	Q	+	3	2	IFT52	41656869	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.284000	0.51708	2.941000	0.99782	0.655000	0.94253	CAG	IFT52	-	pfam_ABC_transp_unknown		0.363	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	G	NM_016004		42223455	1	no_errors	ENST00000373030	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42223455	G	C	42223455	3	2	108	1	0	0	0	0	1	0	0	0	7581	933	33	1	119	1	IFT52	20	42223455	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	8775356	42223455	20802065	174	16204										
TNFRSF6B	8771	genome.wustl.edu	37	chr20	62328438	62328438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gaggaggcacgggcttgccaCgccacccacaaccgtgcctg	13	16	0	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr20:62328438C>T	ENST00000369996.1	+	1	418	c.318C>T	c.(316-318)caC>caT	p.H106H	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	106					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GGGCTTGCCACGCCACCCACA	0.662																																																	0													15	17	16					20																	62328438		2172	4271	6443	SO:0001819	synonymous_variant	8771			AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.318C>T	20.37:g.62328438C>T				Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	p.H106	ENST00000369996.1	37	c.318	CCDS13532.1	20																																																																																			TNFRSF6B	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.662	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF6B	HGNC	protein_coding	OTTHUMT00000080182.1	C			62328438	1	no_errors	ENST00000369996	ensembl	human	known	70_37	silent	SNP	0.001	T	T	62328438	C	T	62328438	2	4	108	1	0	0	0	0	0	0	0	1	16328	535	19	2		2	TNFRSF6B	20	62328438	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	20104983	62328438	697082	175	16205										
DSCAM	1826	genome.wustl.edu	37	chr21	42080577	42080577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tggctaggtaccatctgagaGtcacaggagggatgcctgct	14	9	2	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr21:42080577G>A	ENST00000400454.1	-	2	641	c.164C>T	c.(163-165)aCt>aTt	p.T55I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	55	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCATCTGAGAGTCACAGGAGG	0.597																																					Melanoma(134;970 1778 1785 21664 32388)												0													94	100	98					21																	42080577		2027	4181	6208	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.164C>T	21.37:g.42080577G>A	ENSP00000383303:p.Thr55Ile		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T55I	ENST00000400454.1	37	c.164	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002496	0.54254	.	.	ENSG00000171587	ENST00000400454	T	0.12879	2.64	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.145266	0.45361	D	0.000380	T	0.19725	0.0474	L	0.48362	1.52	0.38482	D	0.947758	B	0.33044	0.395	B	0.41619	0.361	T	0.04915	-1.0918	10	0.31617	T	0.26	.	17.0669	0.86561	0.0:0.0:1.0:0.0	.	55	O60469	DSCAM_HUMAN	I	55	ENSP00000383303:T55I	ENSP00000383303:T55I	T	-	2	0	DSCAM	41002447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.302000	0.96175	2.547000	0.85894	0.585000	0.79938	ACT	DSCAM	-	smart_Ig_sub2		0.597	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		42080577	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42080577	G	A	42080577	3	1	108	1	0	0	0	0	1	0	0	0	4778	1029	36	4	6002	4	DSCAM	21	42080577	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		42080577	6049318	176	16206										
NIPSNAP1	8508	genome.wustl.edu	37	chr22	29957821	29957821	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tcatgcagtccatgagggctGggtagccacctgagaatcgc	13	11	1	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr22:29957821G>C	ENST00000216121.7	-	5	652	c.398C>G	c.(397-399)cCa>cGa	p.P133R		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	133					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CATGAGGGCTGGGTAGCCACC	0.552																																																	1	Unknown(1)	lung(1)											126	122	124					22																	29957821		2203	4300	6503	SO:0001583	missense	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.398C>G	22.37:g.29957821G>C	ENSP00000216121:p.Pro133Arg		B2RAY3|O43800	Missense_Mutation	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.P133R	ENST00000216121.7	37	c.398	CCDS13860.1	22	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750988	0.89753	.	.	ENSG00000184117	ENST00000216121	T	0.42131	0.98	4.72	4.72	0.59763	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.68256	0.2981	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.73380	0.98;0.808	T	0.72151	-0.4377	10	0.49607	T	0.09	-4.9986	17.8034	0.88595	0.0:0.0:1.0:0.0	.	113;133	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	R	133	ENSP00000216121:P133R	ENSP00000216121:P133R	P	-	2	0	NIPSNAP1	28287821	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.115000	0.94336	2.605000	0.88082	0.561000	0.74099	CCA	NIPSNAP1	-	superfamily_Dimeric_a/b-barrel		0.552	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	HGNC	protein_coding	OTTHUMT00000322117.1	G			29957821	-1	no_errors	ENST00000216121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29957821	G	C	29957821	3	2	108	1	0	0	0	0	1	0	0	0	10453	1348	47	4	480	4	NIPSNAP1	22	29957821	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09		29957821	21346745	177	16207										
CDC42EP1	11135	genome.wustl.edu	37	chr22	37964430	37964430	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	agcgcctgctgcaaacccctCagcacctgccgcaaccccca	7	21	1	0			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr22:37964430C>G	ENST00000249014.4	+	3	1199	c.779C>G	c.(778-780)tCa>tGa	p.S260*		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	260	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCTCAGCACCTGCC	0.667																																																	0													12	11	11					22																	37964430		2188	4223	6411	SO:0001587	stop_gained	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.779C>G	22.37:g.37964430C>G	ENSP00000249014:p.Ser260*		A8K825|Q96GN1	Nonsense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.S260*	ENST00000249014.4	37	c.779	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860489	0.91433	.	.	ENSG00000128283	ENST00000249014	.	.	.	1.93	-0.897	0.10553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	4.6029	0.12363	0.2134:0.6457:0.0:0.1408	.	.	.	.	X	260	.	ENSP00000249014:S260X	S	+	2	0	CDC42EP1	36294376	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.059000	0.11731	-0.338000	0.08413	0.205000	0.17691	TCA	CDC42EP1	-	NULL		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	C	NM_152243		37964430	1	no_errors	ENST00000249014	ensembl	human	known	70_37	nonsense	SNP	0.213	G	G	37964430	C	G	37964430	4	3	108	1	0	0	0	0	0	1	0	0	3080	838	29	1	785	1	CDC42EP1	22	37964430	Nonsense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	8006609	37964430	13340136	178	16208										
TYMP	1890	genome.wustl.edu	37	chr22	50966024	50966024	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggagtcaggtcacctgtgatGagtggcaggctgtccacggt	16	9	2	2	rs146557523		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chr22:50966024G>A	ENST00000252029.3	-	5	801	c.639C>T	c.(637-639)ctC>ctT	p.L213L	TYMP_ENST00000395680.1_Silent_p.L213L|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_5'Flank|SCO2_ENST00000252785.3_5'Flank|TYMP_ENST00000395681.1_Silent_p.L213L|SCO2_ENST00000395693.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Silent_p.L213L	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	213					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CACCTGTGATGAGTGGCAGGC	0.577																																																	0								G	,,	3,4403	6.2+/-15.9	0,3,2200	105	89	95		639,639,639	0.4	0.8	22	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TYMP	NM_001113755.1,NM_001113756.1,NM_001953.3	,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,	213/483,213/483,213/483	50966024	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1890			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.639C>T	22.37:g.50966024G>A			A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.L213	ENST00000252029.3	37	c.639	CCDS14096.1	22																																																																																			TYMP	-	pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk		0.577	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	HGNC	protein_coding	OTTHUMT00000317081.1	G	NM_001953		50966024	-1	no_errors	ENST00000252029	ensembl	human	known	70_37	silent	SNP	0.971	A	A	50966024	G	A	50966024	2	1	108	1	0	0	0	0	0	0	0	1	16842	1277	45	1		1	TYMP	22	50966024	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	13001594	50966024	338542	179	16209										
ARHGAP6	395	genome.wustl.edu	37	chrX	11204449	11204449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tttcttatctctggctttttCctttttactttgagcctcag	5	10	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:11204449C>T	ENST00000337414.4	-	5	2052	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E203K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E394K|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E191K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E219K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E426K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E191K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	394					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGGCTTTTTCCTTTTTACTT	0.438																																																	0													164	143	150					X																	11204449		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1180G>A	X.37:g.11204449C>T	ENSP00000338967:p.Glu394Lys		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E394K	ENST00000337414.4	37	c.1180	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940967	0.52972	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.22945	1.93;1.95;1.95;1.96;1.93;1.94;1.98;1.99	5.51	2.61	0.31194	.	0.110174	0.39834	N	0.001259	T	0.11367	0.0277	N	0.03608	-0.345	0.50813	D	0.999895	B;B;B;B;B	0.21309	0.001;0.029;0.054;0.021;0.021	B;B;B;B;B	0.20184	0.001;0.017;0.028;0.018;0.012	T	0.10268	-1.0637	10	0.09084	T	0.74	.	16.0178	0.80455	0.0:0.6345:0.3655:0.0	.	203;191;394;394;394	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	K	219;191;191;394;230;394;203;426	ENSP00000438135:E219K;ENSP00000370112:E191K;ENSP00000302312:E191K;ENSP00000338967:E394K;ENSP00000370093:E230K;ENSP00000370094:E394K;ENSP00000389394:E203K;ENSP00000370108:E426K	ENSP00000302312:E191K	E	-	1	0	ARHGAP6	11114370	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.380000	0.34351	0.489000	0.27749	0.600000	0.82982	GAA	ARHGAP6	-	NULL		0.438	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11204449	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11204449	C	T	11204449	3	4	108	1	0	0	0	0	1	0	0	0	887	864	30	1	1902	1	ARHGAP6	23	11204449	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09		11204449	144066111	180	16210										
FANCB	2187	genome.wustl.edu	37	chrX	14863135	14863135	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	acagtgcaacaaaatttactGaatgttaaaagtggtgaaag	9	4	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:14863135G>A	ENST00000324138.3	-	7	1923	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	FANCB_ENST00000398334.1_Silent_p.F590F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	590					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAATTTACTGAATGTTAAAA	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													128	120	123					X																	14863135		2203	4300	6503	SO:0001819	synonymous_variant	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1770C>T	X.37:g.14863135G>A			B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	NULL	p.F590	ENST00000324138.3	37	c.1770	CCDS14161.1	X																																																																																			FANCB	-	NULL		0.358	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	G	NM_152633		14863135	-1	no_errors	ENST00000324138	ensembl	human	known	70_37	silent	SNP	0.001	A	A	14863135	G	A	14863135	2	1	108	1	0	0	0	0	0	0	0	1	5681	1281	45	1		1	FANCB	23	14863135	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	3658686	14863135	140407425	181	16211										
BMX	660	genome.wustl.edu	37	chrX	15552383	15552383	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	cacgtgcatacaaatgctgaGaacaaattatacctggcaga	8	9	0	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:15552383G>C	ENST00000357607.2	+	12	1256	c.1068G>C	c.(1066-1068)gaG>gaC	p.E356D	BMX_ENST00000342014.6_Missense_Mutation_p.E356D|BMX_ENST00000348343.6_Missense_Mutation_p.E356D			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	356	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAAATGCTGAGAACAAATTAT	0.299																																																	0													132	128	130					X																	15552383		2203	4298	6501	SO:0001583	missense	660			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.1068G>C	X.37:g.15552383G>C	ENSP00000350224:p.Glu356Asp		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,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif	p.E356D	ENST00000357607.2	37	c.1068	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166176	0.38217	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.24350	1.86;1.86;1.86	4.96	0.656	0.17844	SH2 motif (4);	0.000000	0.64402	D	0.000011	T	0.12561	0.0305	N	0.04768	-0.165	0.33533	D	0.593879	P	0.50819	0.939	P	0.48488	0.579	T	0.23476	-1.0187	10	0.10636	T	0.68	.	8.0351	0.30488	0.5496:0.0:0.4504:0.0	.	356	P51813	BMX_HUMAN	D	356	ENSP00000350224:E356D;ENSP00000308774:E356D;ENSP00000340082:E356D	ENSP00000340082:E356D	E	+	3	2	BMX	15462304	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	0.661000	0.25023	0.261000	0.21753	0.600000	0.82982	GAG	BMX	-	pfam_SH2,smart_SH2,pfscan_SH2		0.299	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	G	NM_001721		15552383	1	no_errors	ENST00000342014	ensembl	human	known	70_37	missense	SNP	0.999	C	C	15552383	G	C	15552383	3	2	108	1	0	0	0	0	1	0	0	0	1474	933	33	1	1110	1	BMX	23	15552383	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	689248	15552383	139718177	182	16212										
EIF2S3	1968	genome.wustl.edu	37	chrX	24094872	24094872	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggtcagataagaagaggagtGacaatcaagccaacagtaga	12	6	2	5			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:24094872G>A	ENST00000253039.4	+	12	1642	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	463					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GAAGAGGAGTGACAATCAAGC	0.353																																																	0													213	184	194					X																	24094872		2203	4300	6503	SO:0001819	synonymous_variant	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1389G>A	X.37:g.24094872G>A			B5BTZ4	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.V463	ENST00000253039.4	37	c.1389	CCDS14210.1	X																																																																																			EIF2S3	-	NULL		0.353	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S3	HGNC	protein_coding	OTTHUMT00000056079.1	G	NM_001415		24094872	1	no_errors	ENST00000253039	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24094872	G	A	24094872	2	1	108	1	0	0	0	0	0	0	0	1	5021	1277	45	1		1	EIF2S3	23	24094872	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	8542489	24094872	131175688	183	16213										
DMD	1756	genome.wustl.edu	37	chrX	31747811	31747811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gtttttcaaattttgggcagCggtaatgagttcttccaact	9	7	2	1	rs369583884		TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:31747811C>T	ENST00000357033.4	-	52	7803	c.7597G>A	c.(7597-7599)Gct>Act	p.A2533T	DMD_ENST00000359836.1_Missense_Mutation_p.A73T|DMD_ENST00000378707.3_Missense_Mutation_p.A73T|DMD_ENST00000343523.2_Missense_Mutation_p.A73T|DMD_ENST00000474231.1_Missense_Mutation_p.A73T|DMD_ENST00000541735.1_Missense_Mutation_p.A73T|DMD_ENST00000378677.2_Missense_Mutation_p.A2529T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2533					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A1192T(1)|p.A73T(1)|p.A2528T(1)|p.A2529T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTGGGCAGCGGTAATGAGT	0.428																																																	4	Substitution - Missense(4)	large_intestine(4)											223	190	201					X																	31747811		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7597G>A	X.37:g.31747811C>T	ENSP00000354923:p.Ala2533Thr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.A2533T	ENST00000357033.4	37	c.7597	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.958087|3.958087	0.73902|0.73902	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.34725|.	U|.	0.003738|.	T|T	0.68439|0.68439	0.3001|0.3001	L|L	0.46741|0.46741	1.465|1.465	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;P;D;D;D;D|.	0.89917|.	0.983;1.0;0.999;1.0;1.0;0.576;0.991;0.991;0.999;0.999|.	P;D;D;D;D;B;P;P;D;D|.	0.91635|.	0.766;0.999;0.996;0.999;0.999;0.095;0.887;0.887;0.996;0.994|.	T|T	0.65504|0.65504	-0.6152|-0.6152	10|5	0.20519|.	T|.	0.43|.	.|.	18.1287|18.1287	0.89595|0.89595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2525;2533;2529;1192;1189;73;73;73;73;73|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.|.	T|H	2525;1192;1189;229;2529;2533;73;73;2533;2410;73;73;73|261	ENSP00000350765:A229T;ENSP00000367948:A2529T;ENSP00000354923:A2533T;ENSP00000352894:A73T;ENSP00000340057:A73T;ENSP00000367979:A73T;ENSP00000444119:A73T;ENSP00000417123:A73T|.	ENSP00000340057:A73T|.	A|R	-|-	1|2	0|0	DMD|DMD	31657732|31657732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.586000|6.586000	0.74067|0.74067	2.304000|2.304000	0.77564|0.77564	0.506000|0.506000	0.49869|0.49869	GCT|CGC	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31747811	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31747811	C	T	31747811	3	4	108	1	0	0	0	0	1	0	0	0	4590	768	27	2	3720	2	DMD	23	31747811	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	7652939	31747811	123522749	184	16214										
KDM6A	7403	genome.wustl.edu	37	chrX	44938390	44938390	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tacatttatgtattcatgaaGacctgggacttttctctact	6	8	2	2			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:44938390G>A	ENST00000377967.4	+	20	2979		c.e20-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATTCATGAAGACCTGGGACT	0.328			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											53	46	48					X																	44938390		2203	4300	6503	SO:0001630	splice_region_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2939-1G>A	X.37:g.44938390G>A			Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e20-1	ENST00000377967.4	37	c.2960-1	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246241	0.80024	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4214	0.90591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44823334	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.476000	0.97823	2.290000	0.77057	0.594000	0.82650	.	KDM6A	-	-		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140	Intron	44938390	1	no_errors	ENST00000382899	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	44938390	G	A	44938390	5	1	108	1	0	0	0	0	0	0	1	0	8157	956	33	1	3016	1	KDM6A	23	44938390	Splice_Site	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	13190579	44938390	110332170	185	16215										
WDR13	64743	genome.wustl.edu	37	chrX	48460336	48460336	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	ggcagtgtcttctctttcctCtttgatatggccacaggtag	10	10	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:48460336C>T	ENST00000218056.5	+	6	1501	c.996C>T	c.(994-996)ctC>ctT	p.L332L	WDR13_ENST00000376729.5_Silent_p.L332L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	332						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCTCTTTCCTCTTTGATATGG	0.622																																																	0													57	50	52					X																	48460336		2203	4300	6503	SO:0001819	synonymous_variant	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.996C>T	X.37:g.48460336C>T			Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L332	ENST00000218056.5	37	c.996	CCDS14302.1	X																																																																																			WDR13	-	superfamily_WD40_repeat_dom		0.622	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	C			48460336	1	no_errors	ENST00000218056	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48460336	C	T	48460336	2	4	108	1	0	0	0	0	0	0	0	1	17306	900	32	1		1	WDR13	23	48460336	Silent	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	3521946	48460336	106810224	186	16216										
ITM2A	9452	genome.wustl.edu	37	chrX	78616654	78616654	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tctaatcttccagcatttatCaatggcacgtttgttgaaac	6	9	3	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:78616654C>G	ENST00000373298.2	-	6	867	c.724G>C	c.(724-726)Gat>Cat	p.D242H	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.D198H	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	242						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAGCATTTATCAATGGCACGT	0.368																																																	0													61	49	53					X																	78616654		2203	4299	6502	SO:0001583	missense	9452			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.724G>C	X.37:g.78616654C>G	ENSP00000362395:p.Asp242His		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.D242H	ENST00000373298.2	37	c.724	CCDS14444.1	X	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731543	0.48939	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.17854	2.25;2.25	4.5	4.5	0.54988	.	0.132125	0.49305	D	0.000156	T	0.17238	0.0414	N	0.19112	0.55	0.37755	D	0.92611	B;D	0.56035	0.167;0.974	B;P	0.50231	0.042;0.635	T	0.07731	-1.0757	10	0.46703	T	0.11	-10.8221	13.1059	0.59247	0.0:1.0:0.0:0.0	.	198;242	B4E062;O43736	.;ITM2A_HUMAN	H	242;198	ENSP00000362395:D242H;ENSP00000415533:D198H	ENSP00000362395:D242H	D	-	1	0	ITM2A	78503310	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.158000	0.42329	1.817000	0.53016	0.513000	0.50165	GAT	ITM2A	-	NULL		0.368	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2A	HGNC	protein_coding	OTTHUMT00000057329.1	C	NM_004867		78616654	-1	no_errors	ENST00000373298	ensembl	human	known	70_37	missense	SNP	0.993	G	G	78616654	C	G	78616654	3	3	108	1	0	0	0	0	1	0	0	0	7932	826	29	1	71	1	ITM2A	23	78616654	Missense_Mutation	SNP	C	TCGA-EK-A2RD-01A-12D-A20U-09	30156318	78616654	76653906	187	16217										
TMEM35	59353	genome.wustl.edu	37	chrX	100334062	100334062	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	actcttctttgttttcatggGgactatcaagctgaccccca	7	12	4	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:100334062G>C	ENST00000372930.4	+	1	354	c.71G>C	c.(70-72)gGg>gCg	p.G24A	TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	24						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTTTTCATGGGGACTATCAAG	0.562																																																	0													118	87	97					X																	100334062		2203	4300	6503	SO:0001583	missense	59353			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.71G>C	X.37:g.100334062G>C	ENSP00000362021:p.Gly24Ala		Q9H7Y3	Missense_Mutation	SNP	NULL	p.G24A	ENST00000372930.4	37	c.71	CCDS14478.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019643	0.75275	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.79952	-0.1586	9	0.62326	D	0.03	-2.1379	16.9634	0.86279	0.0:0.0:1.0:0.0	.	24	Q53FP2	TMM35_HUMAN	A	24	.	ENSP00000362021:G24A	G	+	2	0	TMEM35	100220718	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.143000	0.94623	2.212000	0.71576	0.534000	0.68092	GGG	TMEM35	-	NULL		0.562	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM35	HGNC	protein_coding	OTTHUMT00000057508.1	G	NM_021637		100334062	1	no_errors	ENST00000372930	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100334062	G	C	100334062	3	2	108	1	0	0	0	0	1	0	0	0	16187	1232	43	4	73	4	TMEM35	23	100334062	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	21717408	100334062	54936498	188	16218										
DOCK11	139818	genome.wustl.edu	37	chrX	117676770	117676770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	gatttacagcgaccccctccGagatctgcttatgttcccaa	7	14	1	1			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:117676770G>A	ENST00000276202.7	+	2	248	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.R62Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	62					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GACCCCCTCCGAGATCTGCTT	0.393																																																	0													128	126	127					X																	117676770		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.185G>A	X.37:g.117676770G>A	ENSP00000276202:p.Arg62Gln		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R62Q	ENST00000276202.7	37	c.185	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664342	0.88251	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.49720	0.77;0.77	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.78801	2.425	0.51482	D	0.999922	D	0.89917	1.0	D	0.72982	0.979	T	0.70029	-0.4984	10	0.40728	T	0.16	-34.4192	16.8511	0.85994	0.0:0.0:1.0:0.0	.	62	Q5JSL3	DOC11_HUMAN	Q	62	ENSP00000276204:R62Q;ENSP00000276202:R62Q	ENSP00000276202:R62Q	R	+	2	0	DOCK11	117560798	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.604000	0.90877	2.239000	0.73571	0.596000	0.82720	CGA	DOCK11	-	pfam_DOCK_C/D_N		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117676770	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117676770	G	A	117676770	3	1	108	1	0	0	0	0	1	0	0	0	4696	1058	37	1	191	1	DOCK11	23	117676770	Missense_Mutation	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	17342708	117676770	37593790	189	16219										
L1CAM	3897	genome.wustl.edu	37	chrX	153136342	153136342	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.576719576719577	109	9.01984880884124e-43	4.15214804120493	5.19216158034697	3.68894873385596	0.00128385580364722	0.00858855261750209	83	tctgagtggttgtcggaggtGagcacattggcaaagtagag	16	5	1	3			TCGA-EK-A2RD-01A-12D-A20U-09	TCGA-EK-A2RD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b429a4aa-1a29-4e26-8236-7dc5f7c87b23	aa41db66-99b8-4d24-ba78-67271a579215	g.chrX:153136342G>A	ENST00000370060.1	-	7	786	c.597C>T	c.(595-597)ctC>ctT	p.L199L	L1CAM_ENST00000370057.3_Silent_p.L199L|L1CAM_ENST00000361981.3_Silent_p.L194L|L1CAM_ENST00000361699.4_Silent_p.L199L|L1CAM_ENST00000543994.1_Silent_p.L201L|L1CAM_ENST00000538883.1_Silent_p.L201L|L1CAM_ENST00000370055.1_Silent_p.L194L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	199	Ig-like C2-type 2.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGAGGTGAGCACATTGG	0.582																																																	0													291	192	225					X																	153136342		2203	4300	6503	SO:0001819	synonymous_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.597C>T	X.37:g.153136342G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L201	ENST00000370060.1	37	c.603	CCDS14733.1	X																																																																																			L1CAM	-	smart_Ig_sub,pfscan_Ig-like		0.582	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153136342	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	silent	SNP	0.003	A	A	153136342	G	A	153136342	2	1	108	1	0	0	0	0	0	0	0	1	8608	1277	45	1		1	L1CAM	23	153136342	Silent	SNP	G	TCGA-EK-A2RD-01A-12D-A20U-09	35459572	153136342	2134218	190	16220										
NBPF10	100132406	genome.wustl.edu	37	chr1	145298168	145298168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcatcagggaggtgcagaagGctgaagagagcaaagtccct	14	8	2	3	rs12124464		TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr1:145298168G>A	ENST00000342960.5	+	5	615	c.580G>A	c.(580-582)Gct>Act	p.A194T	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	194	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGTGCAGAAGGCTGAAGAGAG	0.532																																																	0																																										SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.580G>A	1.37:g.145298168G>A	ENSP00000345684:p.Ala194Thr		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.A194T	ENST00000342960.5	37	c.580	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	9.671	1.146604	0.21288	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.07567	3.18	1.18	-2.35	0.06684	.	.	.	.	.	T	0.02342	0.0072	L	0.52126	1.63	0.09310	N	1	.	.	.	.	.	.	T	0.43048	-0.9415	7	0.23891	T	0.37	.	3.9478	0.09355	0.1922:0.4783:0.3295:0.0	rs28610541	.	.	.	T	194;119;194	ENSP00000345684:A194T	ENSP00000345684:A194T	A	+	1	0	NBPF10	144009525	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	0.472000	0.22116	-1.101000	0.03027	-1.043000	0.02367	GCT	NBPF10	-	pfam_NBPF_dom		0.532	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		G	NM_001039703		145298168	1	no_errors	ENST00000342960	ensembl	human	known	70_37	missense	SNP	0.000	A	A	145298168	G	A	145298168	3	1	109	1	0	0	0	0	1	0	0	0	10216	1203	42	4	598	4	NBPF10	1	145298168	Missense_Mutation	SNP	G	TCGA-EK-A2RE-01A-11D-A18J-09		145298168	103952453	1	16221										
SUPT7L	9913	genome.wustl.edu	37	chr2	27876450	27876450	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accatagctgctatctgagtCatcagggctctgaggaatcc	10	11	4	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr2:27876450C>A	ENST00000337768.5	-	6	1716	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y	SUPT7L_ENST00000404798.2_Missense_Mutation_p.D248Y|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D381Y|SUPT7L_ENST00000464789.2_Missense_Mutation_p.D381Y|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D381Y	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	383					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTATCTGAGTCATCAGGGCTC	0.517																																																	0													136	141	139					2																	27876450		2008	4179	6187	SO:0001583	missense	9913			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1147G>T	2.37:g.27876450C>A	ENSP00000336750:p.Asp383Tyr		B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	pfam_BTP,smart_BTP	p.D383Y	ENST00000337768.5	37	c.1147	CCDS42667.1	2	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553830	0.65425	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.96	5.96	0.96718	.	0.141043	0.64402	D	0.000005	T	0.46833	0.1413	N	0.08118	0	0.43453	D	0.995649	P;P;P	0.37276	0.454;0.589;0.454	B;B;B	0.41036	0.121;0.346;0.188	T	0.51172	-0.8739	9	0.49607	T	0.09	-24.2369	20.422	0.99049	0.0:1.0:0.0:0.0	.	248;381;383	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	Y	383;381;381;381;248	.	ENSP00000336750:D383Y	D	-	1	0	SUPT7L	27729954	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.904000	0.69886	2.832000	0.97577	0.655000	0.94253	GAC	SUPT7L	-	NULL		0.517	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	C	NM_014860		27876450	-1	no_errors	ENST00000337768	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27876450	C	A	27876450	3	1	109	1	0	0	0	0	1	0	0	0	15431	826	29	3	101	3	SUPT7L	2	27876450	Missense_Mutation	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		27876450	215322923	2	16222										
XIRP2	129446	genome.wustl.edu	37	chr2	168100990	168100990	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caaggcccattgaccagtttGatgaaagcattcataaattt	7	8	1	3			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr2:168100990G>T	ENST00000409195.1	+	9	3177	c.3088G>T	c.(3088-3090)Gat>Tat	p.D1030Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.D1030Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D808Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	855					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACCAGTTTGATGAAAGCAT	0.363																																																	0													59	55	56					2																	168100990		1832	4081	5913	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3088G>T	2.37:g.168100990G>T	ENSP00000386840:p.Asp1030Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.D1030Y	ENST00000409195.1	37	c.3088	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048196	0.55110	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03272	3.99;3.99;3.99	6.08	6.08	0.98989	.	0.106971	0.64402	D	0.000004	T	0.16471	0.0396	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.995;0.995	T	0.00003	-1.2596	10	0.87932	D	0	-24.6652	19.4349	0.94788	0.0:0.0:1.0:0.0	.	855;855;808	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1030;1030;808	ENSP00000386840:D1030Y;ENSP00000295237:D1030Y;ENSP00000387255:D808Y	ENSP00000295237:D1030Y	D	+	1	0	XIRP2	167809236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.280000	0.72626	2.894000	0.99253	0.655000	0.94253	GAT	XIRP2	-	NULL		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168100990	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168100990	G	T	168100990	3	4	109	1	0	0	0	0	1	0	0	0	17461	1290	45	3	3118	3	XIRP2	2	168100990	Missense_Mutation	SNP	G	TCGA-EK-A2RE-01A-11D-A18J-09	140224540	168100990	75098383	3	16223										
TGFBR2	7048	genome.wustl.edu	37	chr3	30732976	30732976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgacccagaggcccgtctcaCagcccagtgtgtggcagaac	12	15	1	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr3:30732976C>T	ENST00000295754.5	+	7	1971	c.1589C>T	c.(1588-1590)aCa>aTa	p.T530I	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T555I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	530	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GCCCGTCTCACAGCCCAGTGT	0.592																																																	0													73	70	71					3																	30732976		2203	4300	6503	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1589C>T	3.37:g.30732976C>T	ENSP00000295754:p.Thr530Ile		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.T555I	ENST00000295754.5	37	c.1664	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.236087	0.95240	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94828	-3.53;-3.53	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98548	1.0635	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	530;555	P37173;D2JYI1	TGFR2_HUMAN;.	I	530;555;360	ENSP00000295754:T530I;ENSP00000351905:T555I	ENSP00000295754:T530I	T	+	2	0	TGFBR2	30707980	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	ACA	TGFBR2	-	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,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom		0.592	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	C			30732976	1	no_errors	ENST00000359013	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30732976	C	T	30732976	3	4	109	1	0	0	0	0	1	0	0	0	15852	478	17	4	1694	4	TGFBR2	3	30732976	Missense_Mutation	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		30732976	167289454	4	16224										
FBXL2	25827	genome.wustl.edu	37	chr3	33406150	33406150	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaatatctcgaagcgatgcGgtggattcctgaggaagctc	12	8	1	1	rs370862715		TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr3:33406150G>A	ENST00000542085.1	+	0	440				FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.G77S|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000484457.1_Missense_Mutation_p.G77S|FBXL2_ENST00000446237.3_De_novo_Start_OutOfFrame|FBXL2_ENST00000538892.1_Missense_Mutation_p.G77S					F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GAAGCGATGCGGTGGATTCCT	0.448																																																	0								G	SER/GLY,SER/GLY	0,4406		0,0,2203	216	194	201		229,229	4.8	0.9	3		201	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXL2	NM_001171713.1,NM_012157.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	77/356,77/424	33406150	1,13005	2203	4300	6503			25827			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000542085.1:c.-642G>A	3.37:g.33406150G>A				Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.G77S	ENST00000542085.1	37	c.229		3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324600	0.81580	0.0	1.16E-4	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000507198	T;T;T	0.22743	4.4;1.94;1.94	4.8	4.8	0.61643	.	0.112080	0.64402	D	0.000008	T	0.22437	0.0541	L	0.45051	1.395	0.80722	D	1	D	0.61080	0.989	B	0.43052	0.406	T	0.02053	-1.1222	10	0.29301	T	0.29	.	18.8066	0.92040	0.0:0.0:1.0:0.0	.	77	Q9UKC9	FBXL2_HUMAN	S	77	ENSP00000417601:G77S;ENSP00000441228:G77S;ENSP00000426163:G77S	ENSP00000408895:G77S	G	+	1	0	FBXL2	33381154	1.000000	0.71417	0.862000	0.33874	0.977000	0.68977	9.357000	0.97099	2.621000	0.88768	0.650000	0.86243	GGT	FBXL2	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.448	FBXL2-204	KNOWN	basic	protein_coding	FBXL2	HGNC	protein_coding		G	NM_012157		33406150	1	no_errors	ENST00000484457	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33406150	G	A	33406150	1	1	109	1	0	1	0	0	0	0	0	0	5734	1116	39	2		2	FBXL2	3	33406150	De_novo_Start_OutOfFrame	SNP	G	TCGA-EK-A2RE-01A-11D-A18J-09	2673174	33406150	164616280	5	16225										
PDZD2	23037	genome.wustl.edu	37	chr5	32089653	32089653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agggcgccccgtgctgactcCgggccggtgagtccggcagc	17	15	0	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr5:32089653C>T	ENST00000438447.1	+	20	6487	c.6099C>T	c.(6097-6099)tcC>tcT	p.S2033S	PDZD2_ENST00000282493.3_Silent_p.S2033S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2033					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGCTGACTCCGGGCCGGTGA	0.642																																																	0													123	136	131					5																	32089653		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6099C>T	5.37:g.32089653C>T			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S2033	ENST00000438447.1	37	c.6099	CCDS34137.1	5																																																																																			PDZD2	-	NULL		0.642	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			32089653	1	no_errors	ENST00000282493	ensembl	human	known	70_37	silent	SNP	0.000	T	T	32089653	C	T	32089653	2	4	109	1	0	0	0	0	0	0	0	1	11725	639	23	2		2	PDZD2	5	32089653	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		32089653	148825607	6	16226										
CCNO	10309	genome.wustl.edu	37	chr5	54529143	54529143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgcagaggggctctctgcgCcgtctgagccggagctgggg	18	13	2	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr5:54529143C>T	ENST00000282572.4	-	1	365	c.209G>A	c.(208-210)gGc>gAc	p.G70D	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	70					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GCTCTCTGCGCCGTCTGAGCC	0.716																																																	0													9	10	10					5																	54529143		2177	4268	6445	SO:0001583	missense	10309			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.209G>A	5.37:g.54529143C>T	ENSP00000282572:p.Gly70Asp		A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G70D	ENST00000282572.4	37	c.209	CCDS34157.1	5	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851490	0.17034	.	.	ENSG00000152669	ENST00000282572	T	0.18502	2.21	5.37	0.182	0.15077	.	1.208020	0.05981	N	0.644196	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37549	-0.9701	10	0.11794	T	0.64	.	2.7552	0.05291	0.261:0.2428:0.3829:0.1134	.	70	P22674	CCNO_HUMAN	D	70	ENSP00000282572:G70D	ENSP00000282572:G70D	G	-	2	0	CCNO	54564900	0.003000	0.15002	0.013000	0.15412	0.012000	0.07955	0.768000	0.26590	0.236000	0.21180	-1.083000	0.02208	GGC	CCNO	-	pirsf_Cyclin_A/B/D/E		0.716	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNO	HGNC	protein_coding	OTTHUMT00000369707.1	C	NM_021147		54529143	-1	no_errors	ENST00000282572	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54529143	C	T	54529143	3	4	109	1	0	0	0	0	1	0	0	0	2938	739	26	4	855	4	CCNO	5	54529143	Missense_Mutation	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09	22439490	54529143	126386117	7	16227										
MEGF10	84466	genome.wustl.edu	37	chr5	126705681	126705681	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagcctggctggggagggacCaactgctccagtggtaagtt	16	9	0	0			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr5:126705681C>A	ENST00000274473.6	+	6	666	c.399C>A	c.(397-399)acC>acA	p.T133T	MEGF10_ENST00000418761.2_Silent_p.T133T|MEGF10_ENST00000508365.1_Silent_p.T133T|MEGF10_ENST00000503335.2_Silent_p.T133T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	133	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGGAGGGACCAACTGCTCCA	0.522																																																	0													190	152	165					5																	126705681		2203	4300	6503	SO:0001819	synonymous_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.399C>A	5.37:g.126705681C>A			Q68DE5|Q8WUL3	Silent	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.T133	ENST00000274473.6	37	c.399	CCDS4142.1	5																																																																																			MEGF10	-	smart_EG-like_dom		0.522	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	C	NM_032446		126705681	1	no_errors	ENST00000274473	ensembl	human	known	70_37	silent	SNP	1.000	A	A	126705681	C	A	126705681	2	1	109	1	0	0	0	0	0	0	0	1	9483	581	21	4		4	MEGF10	5	126705681	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09	72176538	126705681	54209579	8	16228										
FGF18	8817	genome.wustl.edu	37	chr5	170876248	170876248	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	atgaaccgcaaaggcaagctCgtggggaaggtgagtgatgg	17	6	0	3			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr5:170876248C>T	ENST00000274625.5	+	4	892	c.348C>T	c.(346-348)ctC>ctT	p.L116L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	116					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGGCAAGCTCGTGGGGAAGG	0.572																																																	0													102	81	88					5																	170876248		2203	4300	6503	SO:0001819	synonymous_variant	8817			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.348C>T	5.37:g.170876248C>T			D3DQL7|Q6UWF1	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.L116	ENST00000274625.5	37	c.348	CCDS4378.1	5																																																																																			FGF18	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF		0.572	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	C	NM_033649, NM_003862		170876248	1	no_errors	ENST00000274625	ensembl	human	known	70_37	silent	SNP	0.701	T	T	170876248	C	T	170876248	2	4	109	1	0	0	0	0	0	0	0	1	5864	871	31	1		1	FGF18	5	170876248	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09	44170567	170876248	10039012	9	16229										
TNFRSF21	27242	genome.wustl.edu	37	chr6	47251881	47251881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagggcaaatgctcattgaTgtcaaaatgcttgtgtaggt	11	7	2	1			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr6:47251881T>C	ENST00000296861.2	-	3	1429	c.1036A>G	c.(1036-1038)Atc>Gtc	p.I346V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	346					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCTCATTGATGTCAAAATGC	0.537																																																	0													181	170	174					6																	47251881		2203	4300	6503	SO:0001583	missense	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1036A>G	6.37:g.47251881T>C	ENSP00000296861:p.Ile346Val		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.I346V	ENST00000296861.2	37	c.1036	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463599	0.84425	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.71698	-0.59	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	M	0.63843	1.955	0.80722	D	1	D	0.65815	0.995	D	0.78314	0.991	T	0.81913	-0.0715	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	346	O75509	TNR21_HUMAN	V	346;35	ENSP00000296861:I346V	ENSP00000296861:I346V	I	-	1	0	TNFRSF21	47359840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.371000	0.80710	0.533000	0.62120	ATC	TNFRSF21	-	prints_TNFR_21		0.537	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	T	NM_014452		47251881	-1	no_errors	ENST00000296861	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47251881	T	C	47251881	3	2	109	1	0	0	0	0	1	0	0	0	16325	1464	51	5	947	5	TNFRSF21	6	47251881	Missense_Mutation	SNP	T	TCGA-EK-A2RE-01A-11D-A18J-09		47251881	123863186	10	16230										
USP42	84132	genome.wustl.edu	37	chr7	6182606	6182606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	attggagcagtttgtgaagcCggaacagcttgatggagaaa	14	5	0	3			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr7:6182606C>T	ENST00000306177.5	+	8	997	c.839C>T	c.(838-840)cCg>cTg	p.P280L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	280	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTGTGAAGCCGGAACAGCTT	0.542																																																	0													170	178	176					7																	6182606		2126	4247	6373	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.839C>T	7.37:g.6182606C>T	ENSP00000301962:p.Pro280Leu		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P280L	ENST00000306177.5	37	c.839	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.108395	0.94292	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.02916	4.11;4.11;4.11	5.56	5.56	0.83823	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000006	T	0.16896	0.0406	M	0.76433	2.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.996;0.998;0.998	T	0.00050	-1.2196	10	0.87932	D	0	.	19.5344	0.95244	0.0:1.0:0.0:0.0	.	243;280;280;280	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	L	280;213;126	ENSP00000301962:P280L;ENSP00000430568:P213L;ENSP00000408217:P126L	ENSP00000301962:P280L	P	+	2	0	USP42	6149132	1.000000	0.71417	0.968000	0.41197	0.878000	0.50629	7.385000	0.79763	2.622000	0.88805	0.563000	0.77884	CCG	USP42	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.542	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	C	XM_166526		6182606	1	no_errors	ENST00000306177	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6182606	C	T	6182606	3	4	109	1	0	0	0	0	1	0	0	0	17104	652	23	2	865	2	USP42	7	6182606	Missense_Mutation	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		6182606	152956057	11	16231										
THSD7A	221981	genome.wustl.edu	37	chr7	11446665	11446665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaagggctgggtcactgttcGtcttcggatcatttttcctt	10	9	3	0			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr7:11446665G>A	ENST00000423059.4	-	21	4185	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1312	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCACTGTTCGTCTTCGGATC	0.453										HNSCC(18;0.044)																																							0													109	104	106					7																	11446665		1940	4142	6082	SO:0001587	stop_gained	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3934C>T	7.37:g.11446665G>A	ENSP00000406482:p.Arg1312*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1312*	ENST00000423059.4	37	c.3934	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	46	12.335071	0.99658	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.71	2.83	0.33086	.	0.052613	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4285	0.75072	0.0:0.0:0.3545:0.6455	.	.	.	.	X	1312	.	ENSP00000262042:R1312X	R	-	1	2	THSD7A	11413190	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	1.707000	0.37888	0.395000	0.25257	0.644000	0.83932	CGA	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.453	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11446665	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	11446665	G	A	11446665	4	1	109	1	0	0	0	0	0	1	0	0	15909	1153	40	2	1071	2	THSD7A	7	11446665	Nonsense_Mutation	SNP	G	TCGA-EK-A2RE-01A-11D-A18J-09	5264059	11446665	147691998	12	16232										
ABCB4	5244	genome.wustl.edu	37	chr7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	NA	0	1	1	0	gaaagctccaattaggattgINSaaaaaaaaacctgagcaaaa							TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTAGGATTGAAAAAAAAACC	0.347																																																	1	Deletion - Frameshift(1)	lung(1)	GRCh37	CD034702|CI034710	ABCB4	D|I																																				SO:0001589	frameshift_variant	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S339fs	ENST00000265723.4	37	c.1016_1015	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	-	NM_000443		87074282	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	87074282	-	A	87074281	7	5	109	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-EK-A2RE-01A-11D-A18J-09	75627616	87074281	72064382	13	16233										
DOK2	9046	genome.wustl.edu	37	chr8	21767414	21767414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgccctctccagagacgcagCgacggcctgcctcaaaggaa	11	15	2	1	rs200168233		TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr8:21767414C>T	ENST00000276420.4	-	5	905	c.647G>A	c.(646-648)cGc>cAc	p.R216H	DOK2_ENST00000544659.1_Missense_Mutation_p.R62H	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	216	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGAGACGCAGCGACGGCCTGC	0.527																																																	0								C	HIS/ARG	0,4404		0,0,2202	45	42	43		647	4.7	1	8		43	1,8587	1.2+/-3.3	0,1,4293	yes	missense	DOK2	NM_003974.2	29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	216/413	21767414	1,12991	2202	4294	6496	SO:0001583	missense	9046			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.647G>A	8.37:g.21767414C>T	ENSP00000276420:p.Arg216His		Q8N5A4	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.R216H	ENST00000276420.4	37	c.647	CCDS6016.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.215588|3.215588	0.58452|0.58452	0.0|0.0	1.16E-4|1.16E-4	ENSG00000147443|ENSG00000147443	ENST00000523932|ENST00000276420;ENST00000544659;ENST00000518197	T|D;D;D	0.43688|0.86164	0.94|-2.08;-2.08;-2.08	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94341|0.94341	0.8181|0.8181	M|M	0.89214|0.89214	3.015|3.015	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.95319|0.95319	0.8419|0.8419	7|10	0.72032|0.66056	D|D	0.01|0.02	.|.	16.5224|16.5224	0.84320|0.84320	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|216;216	.|O60496;A8K7W1	.|DOK2_HUMAN;.	T|H	209|216;62;62	ENSP00000429224:A209T|ENSP00000276420:R216H;ENSP00000443602:R62H;ENSP00000430729:R62H	ENSP00000429224:A209T|ENSP00000276420:R216H	A|R	-|-	1|2	0|0	DOK2|DOK2	21823360|21823360	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.494000|0.494000	0.33585|0.33585	7.096000|7.096000	0.76960|0.76960	2.187000|2.187000	0.69744|0.69744	0.449000|0.449000	0.29647|0.29647	GCT|CGC	DOK2	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.527	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	HGNC	protein_coding	OTTHUMT00000253735.3	C	NM_003974		21767414	-1	no_errors	ENST00000276420	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21767414	C	T	21767414	3	4	109	1	0	0	0	0	1	0	0	0	4707	768	27	2	595	2	DOK2	8	21767414	Missense_Mutation	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		21767414	124596608	14	16234										
GYLTL1B	120071	genome.wustl.edu	37	chr11	45949830	45949830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcggccaactatgaaccctaCgtggtggtgccacgagactg	13	12	0	2	rs140565103	byFrequency	TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr11:45949830C>T	ENST00000531526.1	+	13	1968	c.1857C>T	c.(1855-1857)taC>taT	p.Y619Y	GYLTL1B_ENST00000536139.1_Silent_p.Y588Y|GYLTL1B_ENST00000401752.1_Silent_p.Y619Y|GYLTL1B_ENST00000325468.5_Silent_p.Y619Y|GYLTL1B_ENST00000529052.1_Silent_p.Y588Y	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	619					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGAACCCTACGTGGTGGTGC	0.637																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	164	158	160		1857	-11.1	0.2	11	dbSNP_134	160	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	GYLTL1B	NM_152312.3		0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231		619/722	45949830	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1857C>T	11.37:g.45949830C>T			A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	pfam_Glyco_trans_8	p.Y619	ENST00000531526.1	37	c.1857	CCDS31473.1	11																																																																																			GYLTL1B	-	NULL		0.637	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	C	NM_152312		45949830	1	no_errors	ENST00000325468	ensembl	human	known	70_37	silent	SNP	0.691	T	T	45949830	C	T	45949830	2	4	109	1	0	0	0	0	0	0	0	1	6927	547	19	2		2	GYLTL1B	11	45949830	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		45949830	89056686	15	16235										
BATF2	116071	genome.wustl.edu	37	chr11	64756991	64756991	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggcactggaggaggctgggAgaatcatgaggctgtggacc	19	7	1	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr11:64756991A>T	ENST00000301887.4	-	3	565	c.435T>A	c.(433-435)tcT>tcA	p.S145S	BATF2_ENST00000527716.1_Silent_p.S121S|BATF2_ENST00000435842.2_Silent_p.S60S	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	145					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GGAGGCTGGGAGAATCATGAG	0.642																																																	0													34	17	23					11																	64756991		2181	4257	6438	SO:0001819	synonymous_variant	116071			AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"basic leucine zipper proteins"	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.435T>A	11.37:g.64756991A>T			D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S145	ENST00000301887.4	37	c.435	CCDS8087.1	11																																																																																			BATF2	-	NULL		0.642	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF2	HGNC	protein_coding	OTTHUMT00000385478.2	A	NM_138456		64756991	-1	no_errors	ENST00000301887	ensembl	human	known	70_37	silent	SNP	0.002	T	T	64756991	A	T	64756991	2	4	109	1	0	0	0	0	0	0	0	1	1327	291	11	5		5	BATF2	11	64756991	Silent	SNP	A	TCGA-EK-A2RE-01A-11D-A18J-09	18807161	64756991	70249525	16	16236										
ASCL4	121549	genome.wustl.edu	37	chr12	108169229	108169229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccttcctccgcaagcgcaaCgagcgcgagcggcagcgggt	15	15	0	0			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr12:108169229C>T	ENST00000342331.4	+	1	1068	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	78	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCAAGCGCAACGAGCGCGAGC	0.716																																					GBM(170;776 3695 11650)												0													5	5	5					12																	108169229		1920	3859	5779	SO:0001819	synonymous_variant	121549			AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.237C>T	12.37:g.108169229C>T			Q7RTS2	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.N79	ENST00000342331.4	37	c.237	CCDS31894.2	12																																																																																			ASCL4	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.716	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCL4	HGNC	protein_coding	OTTHUMT00000346845.1	C	NM_203436		108169229	1	no_errors	ENST00000342331	ensembl	human	known	70_37	silent	SNP	1.000	T	T	108169229	C	T	108169229	2	4	109	1	0	0	0	0	0	0	0	1	1037	535	19	2		2	ASCL4	12	108169229	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		108169229	25682666	17	16237										
WBP4	11193	genome.wustl.edu	37	chr13	41639425	41639426	+	Splice_Site	DEL	TA	TA	-													0	0	1	0	NA	0	1	1	0	agacttggcttagagtcaggTaaaaaaaaaaaaaaaaaaaa					rs78988439|rs58699334		TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr13:41639425_41639426delTA	ENST00000379487.3	+	4	662		c.e4+2		WBP4_ENST00000542082.1_Splice_Site	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TAGAGTCAGGTaaaaaaaaaaa	0.376																																																	0																																										SO:0001630	splice_region_variant	11193			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.262+2TA>-	13.37:g.41639425_41639426delTA			B7Z4M2|Q32P29	Splice_Site	DEL	-	e4+2	ENST00000379487.3	37	c.262+2_262+1	CCDS9375.1	13																																																																																			WBP4	-	-		0.376	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	TA	NM_007187	Intron	41639426	1	no_errors	ENST00000379487	ensembl	human	known	70_37	splice_site_del	DEL	1.000:0.999	-	-	41639426	TA	-	41639425	8	5	109	1	0	1	0	1	0	0	1	0	17292	1652	57	0	278	0	WBP4	13	41639425	Splice_Site	DEL	TA	TCGA-EK-A2RE-01A-11D-A18J-09		41639425	73530453	18	16238										
MED1	5469	genome.wustl.edu	37	chr17	37563901	37563902	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	tctggcttgatgctatgagaINSttttttcttgtctcggtctt							TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr17:37563901_37563902insT	ENST00000300651.6	-	17	4795_4796	c.4572_4573insA	c.(4570-4575)aaatctfs	p.S1525fs	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATGCTATGAGATTTTTTCTtgt	0.421										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0																																										SO:0001589	frameshift_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4573dupA	17.37:g.37563907_37563907dupT	ENSP00000300651:p.Ser1525fs		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Ins	INS	pfam_Mediator_Med1_met/fun	p.S1524fs	ENST00000300651.6	37	c.4573_4572	CCDS11336.1	17																																																																																			MED1	-	NULL		0.421	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	-	NM_004774		37563902	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	37563902	-	T	37563901	7	5	109	1	0	1	1	0	0	0	0	0	9448	333	12	0	176	0	MED1	17	37563901	Frame_Shift_Ins	INS	-	TCGA-EK-A2RE-01A-11D-A18J-09		37563901	43631309	19	16239										
NPTX1	4884	genome.wustl.edu	37	chr17	78449464	78449464	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagctcatcgatcttgctctGcagcagatccttgaggctgt	10	12	3	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr17:78449464G>A	ENST00000306773.4	-	2	656	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	167					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ATCTTGCTCTGCAGCAGATCC	0.642																																																	0													60	53	55					17																	78449464		2203	4300	6503	SO:0001587	stop_gained	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.499C>T	17.37:g.78449464G>A	ENSP00000307549:p.Gln167*		B3KXH3|Q5FWE6	Nonsense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Q167*	ENST00000306773.4	37	c.499	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.786124	0.97837	.	.	ENSG00000171246	ENST00000306773	.	.	.	3.7	3.7	0.42460	.	0.066354	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-20.6591	14.7467	0.69494	0.0:0.0:1.0:0.0	.	.	.	.	X	167	.	ENSP00000307549:Q167X	Q	-	1	0	NPTX1	76064059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.038000	0.93771	2.068000	0.61886	0.561000	0.74099	CAG	NPTX1	-	NULL		0.642	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	G			78449464	-1	no_errors	ENST00000306773	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	78449464	G	A	78449464	4	1	109	1	0	0	0	0	0	1	0	0	10626	1328	46	4	815	4	NPTX1	17	78449464	Nonsense_Mutation	SNP	G	TCGA-EK-A2RE-01A-11D-A18J-09	40885563	78449464	2745746	20	16240										
NEDD4L	23327	genome.wustl.edu	37	chr18	56034976	56034976	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcttctctttctcctcaaaAgggacaactacacccttcag	4	14	5	0			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr18:56034976A>C	ENST00000400345.3	+	22	2346		c.e22-1		NEDD4L_ENST00000456986.1_Splice_Site|NEDD4L_ENST00000256832.7_Splice_Site|NEDD4L_ENST00000256830.9_Splice_Site|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Splice_Site|NEDD4L_ENST00000431212.2_Splice_Site|NEDD4L_ENST00000435432.2_Splice_Site|NEDD4L_ENST00000586263.1_Splice_Site|NEDD4L_ENST00000456173.2_Splice_Site|NEDD4L_ENST00000382850.4_Splice_Site|NEDD4L_ENST00000356462.6_Splice_Site	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCTCCTCAAAAGGGACAACTA	0.428																																																	0													113	103	106					18																	56034976		1901	4123	6024	SO:0001630	splice_region_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2064-1A>C	18.37:g.56034976A>C			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Splice_Site	SNP	-	e22-2	ENST00000400345.3	37	c.2064-2	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467901	0.84533	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7612	0.78082	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD4L	54185956	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.287000	0.95975	2.182000	0.69389	0.528000	0.53228	.	NEDD4L	-	-		0.428	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	A		Intron	56034976	1	no_errors	ENST00000400345	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	56034976	A	C	56034976	5	2	109	1	0	0	0	0	0	0	1	0	10335	86	3	5	2176	5	NEDD4L	18	56034976	Splice_Site	SNP	A	TCGA-EK-A2RE-01A-11D-A18J-09		56034976	22042272	21	16241										
LPHN1	22859	genome.wustl.edu	37	chr19	14261736	14261736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccccatcgggccctggcccCtcaaggcctggggctgccag	13	18	1	0			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr19:14261736C>T	ENST00000340736.6	-	24	4671	c.4374G>A	c.(4372-4374)gaG>gaA	p.E1458E	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.E1453E	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1458					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGCCCCTCAAGGCCTG	0.716																																																	0													16	16	16					19																	14261736		2142	4204	6346	SO:0001819	synonymous_variant	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4374G>A	19.37:g.14261736C>T			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.E1458	ENST00000340736.6	37	c.4374	CCDS32928.1	19																																																																																			LPHN1	-	pfam_GPCR_2_latrophilin_rcpt_C		0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14261736	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14261736	C	T	14261736	2	4	109	1	0	0	0	0	0	0	0	1	8938	680	24	4		4	LPHN1	19	14261736	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		14261736	44867247	22	16242										
WTIP	126374	genome.wustl.edu	37	chr19	34973057	34973058	+	Missense_Mutation	DNP	GA	GA	TT													0	0	1	0	NA	0	1	1	0	ggaagggcagcggcggccccGaggccggggcggacggactg							TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr19:34973057_34973058GA>TT	ENST00000590071.2	+	1	515_516	c.178_179GA>TT	c.(178-180)GAg>TTg	p.E60L	WTIP_ENST00000270288.6_Missense_Mutation_p.E284L	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	60	Gly-rich.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGCGGCCCCGAGGCCGGGGCG	0.837																																																	0																																										SO:0001583	missense	126374			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		Exception_encountered	19.37:g.34973057_34973058delinsTT	ENSP00000466953:p.Glu60Leu			Nonsense_Mutation|Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E284*|p.E284V	ENST00000590071.2	37	c.850|c.851	CCDS59375.1	19																																																																																			WTIP	-	NULL		0.837	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTIP	HGNC	protein_coding	OTTHUMT00000459381.3	G|A	XM_059037		34973057|34973058	1	no_errors	ENST00000270288	ensembl	human	known	70_37	nonsense|missense	SNP	1.000	T	TT	34973058	GA	TT	34973057	3	4	109	1	0	0	0	0	1	0	0	0	17441	1059	37	3	180	3	WTIP	19	34973057	Missense_Mutation	DNP	GA	TCGA-EK-A2RE-01A-11D-A18J-09	20711321	34973057	24155926	23	16243										
KIR3DL1	3811	genome.wustl.edu	37	chr19	55333103	55333103	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgaccttgtcctgtagctccCggagctcctatgacatgtac	9	13	0	2			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr19:55333103C>A	ENST00000391728.4	+	5	772	c.739C>A	c.(739-741)Cgg>Agg	p.R247R	KIR3DL1_ENST00000541392.1_Silent_p.R247R|KIR3DL1_ENST00000358178.4_Silent_p.R152R|KIR3DL1_ENST00000326542.7_Silent_p.R247R|KIR3DL1_ENST00000402254.2_Silent_p.R247R|KIR3DL1_ENST00000538269.1_Silent_p.R247R	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	247	Ig-like C2-type 3.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGTAGCTCCCGGAGCTCCTA	0.572																																																	0																																										SO:0001819	synonymous_variant	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.739C>A	19.37:g.55333103C>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.R247	ENST00000391728.4	37	c.739	CCDS42621.1	19																																																																																			KIR3DL1	-	pfam_Immunoglobulin,smart_Ig_sub		0.572	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	C	NM_013289		55333103	1	no_errors	ENST00000402254	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55333103	C	A	55333103	2	1	109	1	0	0	0	0	0	0	0	1	8340	643	23	2		2	KIR3DL1	19	55333103	Silent	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09	20360046	55333103	3795880	24	16244										
JAG1	182	genome.wustl.edu	37	chr20	10629352	10629352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gccaggtggacagatacagcGataaccattaaccaaatcct	8	11	0	1			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chr20:10629352G>A	ENST00000254958.5	-	12	1929	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	JAG1_ENST00000423891.2_Missense_Mutation_p.R313C|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	472	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGATACAGCGATAACCATTA	0.473									Alagille Syndrome																																								0													77	73	74					20																	10629352		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1414C>T	20.37:g.10629352G>A	ENSP00000254958:p.Arg472Cys		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.R472C	ENST00000254958.5	37	c.1414	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483543	0.84854	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	T;T	0.61274	0.12;0.12	5.93	5.93	0.95920	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.78817	0.4343	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.80063	-0.1539	10	0.66056	D	0.02	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	472	P78504	JAG1_HUMAN	C	472;313	ENSP00000254958:R472C;ENSP00000389519:R313C	ENSP00000254958:R472C	R	-	1	0	JAG1	10577352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	CGC	JAG1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.473	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10629352	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10629352	G	A	10629352	3	1	109	1	0	0	0	0	1	0	0	0	7954	1058	37	1	2302	1	JAG1	20	10629352	Missense_Mutation	SNP	G	TCGA-EK-A2RE-01A-11D-A18J-09		10629352	52396168	25	16245										
MAP7D2	256714	genome.wustl.edu	37	chrX	20030618	20030618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggggcagcgtgatccacacCattaacttcctggcaggtgt	12	11	0	1			TCGA-EK-A2RE-01A-11D-A18J-09	TCGA-EK-A2RE-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	96ea0b20-0da0-4bdd-bbf0-799b981e778b	e472c85c-6544-4277-a4f5-64e8199980e1	g.chrX:20030618C>A	ENST00000379651.3	-	14	1816	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	MAP7D2_ENST00000443379.3_Missense_Mutation_p.G555C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.G548C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.G641C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.G485C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	600					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGATCCACACCATTAACTTCC	0.423																																																	0													131	118	123					X																	20030618		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1798G>T	X.37:g.20030618C>A	ENSP00000368972:p.Gly600Cys		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.G641C	ENST00000379651.3	37	c.1921	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007955	0.35415	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.25085	2.15;3.5;3.5;1.82;2.15	5.39	1.55	0.23275	.	0.935908	0.09083	N	0.851029	T	0.36744	0.0978	L	0.47716	1.5	0.09310	N	1	D;D;D;D;P	0.76494	0.999;0.999;0.999;0.999;0.728	D;D;D;D;P	0.74348	0.921;0.964;0.983;0.946;0.487	T	0.19910	-1.0291	10	0.66056	D	0.02	1.0703	1.462	0.02398	0.1422:0.3996:0.1365:0.3217	.	555;548;641;600;485	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	C	600;641;485;555;283;548	ENSP00000368972:G600C;ENSP00000368964:G641C;ENSP00000440691:G485C;ENSP00000388239:G555C;ENSP00000413301:G548C	ENSP00000368964:G641C	G	-	1	0	MAP7D2	19940539	0.029000	0.19370	0.002000	0.10522	0.537000	0.34900	0.131000	0.15870	0.116000	0.18110	0.525000	0.51046	GGT	MAP7D2	-	NULL		0.423	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20030618	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	0.001	A	A	20030618	C	A	20030618	3	1	109	1	0	0	0	0	1	0	0	0	9291	594	21	4	408	4	MAP7D2	23	20030618	Missense_Mutation	SNP	C	TCGA-EK-A2RE-01A-11D-A18J-09		20030618	135239942	26	16246										
PRDM2	7799	genome.wustl.edu	37	chr1	14108373	14108373	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgtgcttctgcaagtgacaaGaagaggtacacgcctaagaa	11	8	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:14108373G>C	ENST00000235372.7	+	8	4939	c.4083G>C	c.(4081-4083)aaG>aaC	p.K1361N	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1361N|PRDM2_ENST00000343137.4_Missense_Mutation_p.K1160N|PRDM2_ENST00000413440.1_Missense_Mutation_p.K1160N|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1361	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAAGTGACAAGAAGAGGTACA	0.453																																																	0													96	95	95					1																	14108373		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4083G>C	1.37:g.14108373G>C	ENSP00000235372:p.Lys1361Asn		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.K1361N	ENST00000235372.7	37	c.4083	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556977	0.45590	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.03413	4.05;3.94;3.95;3.95	6.17	4.01	0.46588	.	0.047485	0.85682	D	0.000000	T	0.08891	0.0220	L	0.36672	1.1	0.42996	D	0.9945	D;D;D	0.89917	1.0;0.974;0.985	D;P;P	0.68765	0.96;0.707;0.847	T	0.08229	-1.0732	10	0.72032	D	0.01	.	7.7852	0.29087	0.2866:0.0:0.7134:0.0	.	1219;1361;1361	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	N	1361;1361;1361;1160;1160	ENSP00000235372:K1361N;ENSP00000312352:K1361N;ENSP00000411103:K1160N;ENSP00000341621:K1160N	ENSP00000235372:K1361N	K	+	3	2	PRDM2	13980960	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.049000	0.49869	1.632000	0.50472	-0.140000	0.14226	AAG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	G	NM_012231		14108373	1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14108373	G	C	14108373	3	2	110	1	0	0	0	0	1	0	0	0	12485	933	33	1	4109	1	PRDM2	1	14108373	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		14108373	235142248	1	16247										
CELA2A	63036	genome.wustl.edu	37	chr1	15789917	15789917	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctcaaactggctaaccccgtCtccctcaccgacaagatcca	5	18	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:15789917C>T	ENST00000359621.4	+	5	418	c.393C>T	c.(391-393)gtC>gtT	p.V131V		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	131	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTAACCCCGTCTCCCTCACCG	0.607																																																	0													179	135	150					1																	15789917		2203	4298	6501	SO:0001819	synonymous_variant	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.393C>T	1.37:g.15789917C>T			B2R5I4|Q14243	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V131	ENST00000359621.4	37	c.393	CCDS157.1	1																																																																																			CELA2A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.607	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	C	NM_033440		15789917	1	no_errors	ENST00000359621	ensembl	human	known	70_37	silent	SNP	0.289	T	T	15789917	C	T	15789917	2	4	110	1	0	0	0	0	0	0	0	1	3216	900	32	1		1	CELA2A	1	15789917	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1681544	15789917	233460704	2	16248										
MRTO4	51154	genome.wustl.edu	37	chr1	19583621	19583621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cggagcccatctgatgaataCaaagacaacctgcaccaggt	9	12	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:19583621C>T	ENST00000330263.4	+	4	552	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	85					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGAATACAAAGACAACC	0.537																																					GBM(192;2418 3032 7540 48714)												0													219	206	211					1																	19583621		2203	4300	6503	SO:0001819	synonymous_variant	51154			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.255C>T	1.37:g.19583621C>T			B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	pfam_Ribosomal_L10/acidic_P0	p.Y85	ENST00000330263.4	37	c.255	CCDS191.1	1																																																																																			MRTO4	-	pfam_Ribosomal_L10/acidic_P0		0.537	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	HGNC	protein_coding	OTTHUMT00000007075.2	C	NM_016183		19583621	1	no_errors	ENST00000330263	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19583621	C	T	19583621	2	4	110	1	0	0	0	0	0	0	0	1	9875	489	17	4		4	MRTO4	1	19583621	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3793704	19583621	229667000	3	16249										
SH2D5	400745	genome.wustl.edu	37	chr1	21050664	21050664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	accttgctgcgaatggccttCttgcgcaccagcgtgggcga	13	13	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:21050664C>G	ENST00000444387.2	-	7	1108	c.711G>C	c.(709-711)aaG>aaC	p.K237N	SH2D5_ENST00000375031.1_Missense_Mutation_p.K153N|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	237										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATGGCCTTCTTGCGCACCA	0.677																																																	0													55	64	61					1																	21050664		2099	4204	6303	SO:0001583	missense	400745			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.711G>C	1.37:g.21050664C>G	ENSP00000406026:p.Lys237Asn		B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2	p.K237N	ENST00000444387.2	37	c.711	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035350	0.93630	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.93	0.64822	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	L	0.56769	1.78	0.50313	D	0.999865	D	0.89917	1.0	D	0.91635	0.999	T	0.78031	-0.2363	9	0.62326	D	0.03	.	17.0652	0.86557	0.0:1.0:0.0:0.0	.	237	Q6ZV89	SH2D5_HUMAN	N	153;237	.	ENSP00000364171:K153N	K	-	3	2	SH2D5	20923251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.012000	0.29924	2.569000	0.86673	0.563000	0.77884	AAG	SH2D5	-	NULL		0.677	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	C	XM_375698		21050664	-1	no_errors	ENST00000444387	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21050664	C	G	21050664	3	3	110	1	0	0	0	0	1	0	0	0	14267	912	32	1	576	1	SH2D5	1	21050664	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1467043	21050664	228199957	4	16250										
THRAP3	9967	genome.wustl.edu	37	chr1	36762219	36762219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaagatgatcctgttgatctCcgccttgatattgaacgtcg	9	9	1	5			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:36762219C>T	ENST00000354618.5	+	9	2375	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	THRAP3_ENST00000469141.2_Silent_p.L717L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	717	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGTTGATCTCCGCCTTGATA	0.423			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													105	105	105					1																	36762219		2203	4300	6503	SO:0001819	synonymous_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2151C>T	1.37:g.36762219C>T			D3DPS5|Q5VTK6	Silent	SNP	NULL	p.L717	ENST00000354618.5	37	c.2151	CCDS405.1	1																																																																																			THRAP3	-	NULL		0.423	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36762219	1	no_errors	ENST00000354618	ensembl	human	known	70_37	silent	SNP	0.739	T	T	36762219	C	T	36762219	2	4	110	1	0	0	0	0	0	0	0	1	15904	842	30	1		1	THRAP3	1	36762219	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	15711555	36762219	212488402	5	16251										
PIK3R3	8503	genome.wustl.edu	37	chr1	46546413	46546413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcattggcttaggtggctttGgtggaagagctagaagagaa	15	4	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:46546413G>C	ENST00000262741.5	-	2	805	c.116C>G	c.(115-117)cCa>cGa	p.P39R	PIK3R3_ENST00000420542.1_Missense_Mutation_p.P39R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.P85R|PIK3R3_ENST00000423209.1_Missense_Mutation_p.P39R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.P39R|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Missense_Mutation_p.P39R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	39	Pro-rich.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGGTGGCTTTGGTGGAAGAGC	0.398																																																	0													211	221	218					1																	46546413		2203	4300	6503	SO:0001583	missense	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.116C>G	1.37:g.46546413G>C	ENSP00000262741:p.Pro39Arg		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.P85R	ENST00000262741.5	37	c.254	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292346	0.80914	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	D;D;D;D;D;D;T	0.84146	-1.57;-1.57;-1.57;-1.73;-1.81;-1.73;0.84	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.76170	2.325	0.80722	D	1	D;P;D;P	0.89917	1.0;0.93;1.0;0.93	D;P;D;B	0.91635	0.999;0.564;0.977;0.36	D	0.92965	0.6392	10	0.87932	D	0	.	17.591	0.87997	0.0:0.0:1.0:0.0	.	85;72;39;39	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	39;39;39;39;85;39;39	ENSP00000361075:P39R;ENSP00000262741:P39R;ENSP00000412546:P39R;ENSP00000346188:P39R;ENSP00000439913:P85R;ENSP00000391431:P39R;ENSP00000416647:P39R	ENSP00000262741:P39R	P	-	2	0	PIK3R3	46319000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.427000	0.97472	2.521000	0.84997	0.467000	0.42956	CCA	PIK3R3	-	NULL		0.398	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	G	NM_003629		46546413	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46546413	G	C	46546413	3	2	110	1	0	0	0	0	1	0	0	0	11944	1348	47	4	1305	4	PIK3R3	1	46546413	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9784194	46546413	202704208	6	16252										
GLIS1	148979	genome.wustl.edu	37	chr1	53974848	53974848	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccattgggccgcagggggttGaaaccgtgggtctccccgac	15	13	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:53974848G>C	ENST00000312233.2	-	9	2216	c.1650C>G	c.(1648-1650)ttC>ttG	p.F550L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCAGGGGGTTGAAACCGTGGG	0.662																																																	0													50	41	44					1																	53974848		2200	4299	6499	SO:0001583	missense	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1650C>G	1.37:g.53974848G>C	ENSP00000309653:p.Phe550Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F550L	ENST00000312233.2	37	c.1650	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035618	0.54896	.	.	ENSG00000174332	ENST00000312233	T	0.11604	2.76	3.94	3.01	0.34805	.	0.000000	0.53938	D	0.000056	T	0.08313	0.0207	L	0.34521	1.04	0.40552	D	0.981129	P	0.48089	0.905	B	0.44224	0.444	T	0.33624	-0.9861	10	0.29301	T	0.29	.	5.5447	0.17057	0.1095:0.2064:0.6841:0.0	.	550	Q8NBF1	GLIS1_HUMAN	L	550	ENSP00000309653:F550L	ENSP00000309653:F550L	F	-	3	2	GLIS1	53747436	1.000000	0.71417	0.982000	0.44146	0.731000	0.41821	1.205000	0.32308	0.990000	0.38787	0.561000	0.74099	TTC	GLIS1	-	NULL		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	G	NM_147193		53974848	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	missense	SNP	0.998	C	C	53974848	G	C	53974848	3	2	110	1	0	0	0	0	1	0	0	0	6464	1281	45	1	220	1	GLIS1	1	53974848	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	7428435	53974848	195275773	7	16253										
TMEM61	199964	genome.wustl.edu	37	chr1	55451823	55451823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgctattgcatgacagtcagCggcacagtggttctggtggc	14	10	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:55451823C>A	ENST00000371268.3	+	2	343	c.69C>A	c.(67-69)agC>agA	p.S23R	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	23						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGACAGTCAGCGGCACAGTGG	0.617																																																	0													48	48	48					1																	55451823		2203	4300	6503	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.69C>A	1.37:g.55451823C>A	ENSP00000360315:p.Ser23Arg			Missense_Mutation	SNP	NULL	p.S23R	ENST00000371268.3	37	c.69	CCDS601.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668065	0.29604	.	.	ENSG00000143001	ENST00000371268	T	0.52526	0.66	4.8	-2.35	0.06684	.	0.653649	0.14283	N	0.329418	T	0.43122	0.1233	N	0.24115	0.695	0.19300	N	0.999977	D	0.59357	0.985	P	0.55965	0.788	T	0.46133	-0.9213	10	0.56958	D	0.05	-3.2167	10.9236	0.47180	0.0:0.4636:0.0:0.5364	.	23	Q8N0U2	TMM61_HUMAN	R	23	ENSP00000360315:S23R	ENSP00000360315:S23R	S	+	3	2	TMEM61	55224411	0.000000	0.05858	0.025000	0.17156	0.103000	0.19146	-1.843000	0.01680	-0.584000	0.05913	0.655000	0.94253	AGC	TMEM61	-	NULL		0.617	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM61	HGNC	protein_coding	OTTHUMT00000027683.1	C	NM_182532		55451823	1	no_errors	ENST00000371268	ensembl	human	known	70_37	missense	SNP	0.265	A	A	55451823	C	A	55451823	3	1	110	1	0	0	0	0	1	0	0	0	16218	767	27	2	75	2	TMEM61	1	55451823	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1476975	55451823	193798798	8	16254										
L1TD1	54596	genome.wustl.edu	37	chr1	62672545	62672545	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgacctaaaagcagttttagGgggaaaagctacaatacctg	10	7	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:62672545G>C	ENST00000498273.1	+	3	540	c.245G>C	c.(244-246)gGg>gCg	p.G82A		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	82										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gcagttttagggggaaaagct	0.353																																																	0													31	35	34					1																	62672545		2199	4296	6495	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.245G>C	1.37:g.62672545G>C	ENSP00000419901:p.Gly82Ala		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.G82A	ENST00000498273.1	37	c.245	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	6.197	0.404431	0.11754	.	.	ENSG00000240563	ENST00000498273	T	0.10382	2.88	2.21	-0.0382	0.13881	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	B	0.24618	0.107	B	0.19666	0.026	T	0.42649	-0.9439	9	0.02654	T	1	.	3.753	0.08573	0.0:0.2275:0.4063:0.3661	.	82	Q5T7N2	LITD1_HUMAN	A	82	ENSP00000419901:G82A	ENSP00000419901:G82A	G	+	2	0	L1TD1	62445133	0.046000	0.20272	0.001000	0.08648	0.046000	0.14306	0.356000	0.20181	-0.012000	0.14223	0.313000	0.20887	GGG	L1TD1	-	NULL		0.353	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1	G	NM_019079		62672545	1	no_errors	ENST00000498273	ensembl	human	known	70_37	missense	SNP	0.001	C	C	62672545	G	C	62672545	3	2	110	1	0	0	0	0	1	0	0	0	8609	1232	43	4	247	4	L1TD1	1	62672545	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	7220722	62672545	186578076	9	16255										
HFM1	164045	genome.wustl.edu	37	chr1	91859929	91859929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cattagttatctttaaatttGatgttaacatttttggcctc	5	6	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:91859929G>A	ENST00000370425.3	-	4	313	c.215C>T	c.(214-216)tCa>tTa	p.S72L	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	72					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTAAATTTGATGTTAACAT	0.264																																																	0													41	42	41					1																	91859929		2200	4292	6492	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.215C>T	1.37:g.91859929G>A	ENSP00000359454:p.Ser72Leu		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S72L	ENST00000370425.3	37	c.215	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549191	0.45383	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444;ENST00000455133	T;T;T	0.61859	0.07;0.65;1.22	3.84	3.84	0.44239	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.80722	D	1	P;B	0.47034	0.889;0.3	B;B	0.44224	0.444;0.098	T	0.37776	-0.9691	9	0.54805	T	0.06	.	11.4492	0.50142	0.0:0.0:1.0:0.0	.	72;72	B7ZM16;A2PYH4	.;HFM1_HUMAN	L	72;105;30;72	ENSP00000359454:S72L;ENSP00000388900:S30L;ENSP00000409827:S72L	ENSP00000359454:S72L	S	-	2	0	HFM1	91632517	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.911000	0.48774	2.175000	0.68902	0.467000	0.42956	TCA	HFM1	-	NULL		0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91859929	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91859929	G	A	91859929	3	1	110	1	0	0	0	0	1	0	0	0	7103	1294	45	1	4236	1	HFM1	1	91859929	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	29187384	91859929	157390692	10	16256										
EPS8L3	79574	genome.wustl.edu	37	chr1	110301890	110301890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggcactggaagagcagagtGctagtgcctggcaggcccgg	17	10	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:110301890G>T	ENST00000361965.4	-	5	481	c.375C>A	c.(373-375)agC>agA	p.S125R	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S125R|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S125R	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	125						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGAGCAGAGTGCTAGTGCCTG	0.597																																																	0													143	144	144					1																	110301890		2203	4300	6503	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.375C>A	1.37:g.110301890G>T	ENSP00000355255:p.Ser125Arg		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.S125R	ENST00000361965.4	37	c.375	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512470	0.44660	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.32988	1.43;1.43;1.43	5.24	2.26	0.28386	Tensin phosphotyrosine-binding domain (1);	0.542979	0.23148	N	0.051387	T	0.37433	0.1003	M	0.73598	2.24	0.39164	D	0.962461	D;D;D;D	0.67145	0.994;0.993;0.994;0.996	D;D;D;D	0.67900	0.954;0.923;0.954;0.925	T	0.31916	-0.9926	10	0.72032	D	0.01	-6.227	7.8523	0.29462	0.3372:0.0:0.6628:0.0	.	125;125;125;125	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	R	125	ENSP00000354551:S125R;ENSP00000358820:S125R;ENSP00000355255:S125R	ENSP00000354551:S125R	S	-	3	2	EPS8L3	110103413	0.958000	0.32768	0.731000	0.30826	0.314000	0.28054	0.682000	0.25335	0.688000	0.31529	0.655000	0.94253	AGC	EPS8L3	-	pfam_PTB		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	G	NM_024526		110301890	-1	no_errors	ENST00000369805	ensembl	human	known	70_37	missense	SNP	0.863	T	T	110301890	G	T	110301890	3	4	110	1	0	0	0	0	1	0	0	0	5209	1310	46	4	1469	4	EPS8L3	1	110301890	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	18441961	110301890	138948731	11	16257										
AP4B1	10717	genome.wustl.edu	37	chr1	114443928	114443928	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgtttcagaatttcctctaGagacctcaagcagttcacaa	6	11	4	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:114443928G>A	ENST00000369569.1	-	4	827	c.547C>T	c.(547-549)Cta>Tta	p.L183L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000256658.4_Silent_p.L183L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	183					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCCTCTAGAGACCTCAAG	0.403																																																	0													101	99	100					1																	114443928		2203	4300	6503	SO:0001819	synonymous_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.547C>T	1.37:g.114443928G>A			B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.L183	ENST00000369569.1	37	c.547	CCDS865.1	1																																																																																			AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.403	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114443928	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	silent	SNP	0.997	A	A	114443928	G	A	114443928	2	1	110	1	0	0	0	0	0	0	0	1	751	933	33	1		1	AP4B1	1	114443928	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4142038	114443928	134806693	12	16258										
DENND2C	163259	genome.wustl.edu	37	chr1	115143494	115143494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgtgatggtgcgtccaggagCtgggaaaggagcttccatga	16	7	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:115143494C>T	ENST00000393274.1	-	14	2528	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.A578T|DENND2C_ENST00000393277.1_Missense_Mutation_p.A635T	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	635	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTCCAGGAGCTGGGAAAGGA	0.443																																																	0													128	124	125					1																	115143494		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1903G>A	1.37:g.115143494C>T	ENSP00000376955:p.Ala635Thr		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A635T	ENST00000393274.1	37	c.1903	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.601376	0.96614	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12147	2.71;2.71;2.71	5.18	5.18	0.71444	DENN (3);	0.000000	0.49916	U	0.000121	T	0.30324	0.0761	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.97110	1.0;0.882	T	0.05784	-1.0864	10	0.87932	D	0	.	18.7701	0.91888	0.0:1.0:0.0:0.0	.	635;578	Q68D51;Q68D51-3	DEN2C_HUMAN;.	T	578;635;635;635	ENSP00000376957:A578T;ENSP00000376955:A635T;ENSP00000376958:A635T	ENSP00000358553:A635T	A	-	1	0	DENND2C	114945017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.431000	0.82371	0.650000	0.86243	GCT	DENND2C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.443	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115143494	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115143494	C	T	115143494	3	4	110	1	0	0	0	0	1	0	0	0	4440	797	28	4	915	4	DENND2C	1	115143494	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	699566	115143494	134107127	13	16259										
DENND2C	163259	genome.wustl.edu	37	chr1	115166239	115166239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gttccgatttcgaaagtgctGaatatcctcaaattcaaagg	8	8	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:115166239G>A	ENST00000393274.1	-	5	1457	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q278*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q278*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	278					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAAAGTGCTGAATATCCTCA	0.294																																																	0													76	73	74					1																	115166239		2202	4300	6502	SO:0001587	stop_gained	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.832C>T	1.37:g.115166239G>A	ENSP00000376955:p.Gln278*		B1AL26|Q5TCX6|Q6P3R3	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q278*	ENST00000393274.1	37	c.832	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.807719	0.99470	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	6.06	6.06	0.98353	.	0.269957	0.38778	N	0.001561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	278	.	ENSP00000358553:Q278X	Q	-	1	0	DENND2C	114967762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.914000	0.63348	2.882000	0.98803	0.655000	0.94253	CAG	DENND2C	-	NULL		0.294	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	G	NM_198459		115166239	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	115166239	G	A	115166239	4	1	110	1	0	0	0	0	0	1	0	0	4440	1299	45	1	1847	1	DENND2C	1	115166239	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	22745	115166239	134084382	14	16260										
PLEKHO1	51177	genome.wustl.edu	37	chr1	150128266	150128266	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caaccctcccctaggtaaaaGatgagaaaaatattcaagag	7	9	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:150128266G>C	ENST00000369124.4	+	3	462	c.184G>C	c.(184-186)Gat>Cat	p.D62H	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.D62H	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	62	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTAGGTAAAAGATGAGAAAAA	0.438																																																	0																																										SO:0001583	missense	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.184G>C	1.37:g.150128266G>C	ENSP00000358120:p.Asp62His		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D62H	ENST00000369124.4	37	c.184	CCDS945.1	1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914566	0.72983	.	.	ENSG00000023902	ENST00000025469;ENST00000369124	T;T	0.17528	2.27;2.27	4.4	4.4	0.53042	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.053893	0.64402	D	0.000001	T	0.23249	0.0562	M	0.72118	2.19	0.58432	D	0.999999	P	0.48694	0.914	P	0.51297	0.665	T	0.02797	-1.1109	10	0.72032	D	0.01	-15.3489	16.1611	0.81712	0.0:0.0:1.0:0.0	.	62	Q53GL0	PKHO1_HUMAN	H	62	ENSP00000025469:D62H;ENSP00000358120:D62H	ENSP00000025469:D62H	D	+	1	0	PLEKHO1	148394890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.975000	0.76128	2.276000	0.75962	0.609000	0.83330	GAT	PLEKHO1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	G	NM_016274		150128266	1	no_errors	ENST00000369124	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150128266	G	C	150128266	3	2	110	1	0	0	0	0	1	0	0	0	12108	942	33	1	194	1	PLEKHO1	1	150128266	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	34962027	150128266	99122355	15	16261										
GOLPH3L	55204	genome.wustl.edu	37	chr1	150667193	150667193	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gagtaaggcggatatccttaGagtctccagaatcttcattg	10	8	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:150667193G>C	ENST00000271732.3	-	2	166	c.122C>G	c.(121-123)tCt>tGt	p.S41C	GOLPH3L_ENST00000479757.1_5'UTR|GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S41C	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	41					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GATATCCTTAGAGTCTCCAGA	0.408																																																	0													182	161	168					1																	150667193		2203	4300	6503	SO:0001583	missense	55204			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.122C>G	1.37:g.150667193G>C	ENSP00000271732:p.Ser41Cys		B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	pfam_GPP34	p.S41C	ENST00000271732.3	37	c.122	CCDS966.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556074	0.86231	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.97	5.97	0.96955	.	0.069760	0.64402	D	0.000012	T	0.36826	0.0981	N	0.08118	0	0.47584	D	0.999462	D;B	0.58268	0.982;0.003	P;B	0.52514	0.701;0.003	T	0.45760	-0.9239	9	0.56958	D	0.05	-9.1682	17.9326	0.89002	0.0:0.0:1.0:0.0	.	41;41	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	C	41	.	ENSP00000271732:S41C	S	-	2	0	GOLPH3L	148933817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.874000	0.56101	2.836000	0.97738	0.655000	0.94253	TCT	GOLPH3L	-	pfam_GPP34		0.408	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3L	HGNC	protein_coding	OTTHUMT00000084734.1	G	NM_018178		150667193	-1	no_errors	ENST00000271732	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150667193	G	C	150667193	3	2	110	1	0	0	0	0	1	0	0	0	6588	942	33	1	751	1	GOLPH3L	1	150667193	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	538927	150667193	98583428	16	16262										
SEMA6C	10500	genome.wustl.edu	37	chr1	151108092	151108092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agggctgtaggcatcaatctCttccaggaggatgggctcag	14	9	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151108092C>T	ENST00000341697.3	-	14	3099	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602																																																	1	Substitution - Missense(1)	lung(1)											78	80	79					1																	151108092		2203	4300	6503	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1408G>A	1.37:g.151108092C>T	ENSP00000344148:p.Glu470Lys		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.E470K	ENST00000341697.3	37	c.1408	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001978	0.93227	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.113135	0.64402	D	0.000017	T	0.59238	0.2179	M	0.93283	3.4	0.43740	D	0.996236	D;D;D;D	0.89917	1.0;0.99;0.999;0.999	D;D;D;D	0.76071	0.986;0.979;0.968;0.987	T	0.72087	-0.4396	10	0.87932	D	0	.	15.2959	0.73906	0.0:1.0:0.0:0.0	.	470;430;470;470	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	K	470;430;470;470	ENSP00000357910:E470K;ENSP00000357908:E430K;ENSP00000357909:E470K;ENSP00000344148:E470K	ENSP00000344148:E470K	E	-	1	0	SEMA6C	149374716	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.911000	0.69939	2.215000	0.71742	0.561000	0.74099	GAG	SEMA6C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.602	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	C	NM_030913		151108092	-1	no_errors	ENST00000368913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151108092	C	T	151108092	3	4	110	1	0	0	0	0	1	0	0	0	14071	922	32	1	1508	1	SEMA6C	1	151108092	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	440899	151108092	98142529	17	16263										
CGN	57530	genome.wustl.edu	37	chr1	151491199	151491199	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggcagccctttgtggtgctCaacagtggggagaaaggcgg	18	8	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151491199C>G	ENST00000271636.7	+	2	337	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	62	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTGGTGCTCAACAGTGGGG	0.592																																																	0													82	84	83					1																	151491199		2203	4300	6503	SO:0001819	synonymous_variant	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.204C>G	1.37:g.151491199C>G			A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.L68	ENST00000271636.7	37	c.204	CCDS999.1	1																																																																																			CGN	-	NULL		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	C	NM_020770		151491199	1	no_errors	ENST00000271636	ensembl	human	known	70_37	silent	SNP	0.994	G	G	151491199	C	G	151491199	2	3	110	1	0	0	0	0	0	0	0	1	3308	813	29	1		1	CGN	1	151491199	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	383107	151491199	97759422	18	16264										
MRPL9	65005	genome.wustl.edu	37	chr1	151734851	151734851	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgtccttcctttgagctcaCcaatttctcctcttcaaaca	3	15	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151734851C>T	ENST00000368830.3	-	3	520		c.e3+1		OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000315067.8_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000368829.3_Splice_Site|MRPL9_ENST00000467306.1_Splice_Site	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTGAGCTCACCAATTTCTCC	0.423																																																	0													109	110	110					1																	151734851		2203	4300	6503	SO:0001630	splice_region_variant	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.435+1G>A	1.37:g.151734851C>T			B2RD99|Q5SZR2|Q9BSW8	Splice_Site	SNP	-	e3+1	ENST00000368830.3	37	c.435+1	CCDS1003.1	1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554535	0.27739	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	.	.	.	4.94	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1791	0.48616	0.0:0.8148:0.1852:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPL9	150001475	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	5.351000	0.66022	1.294000	0.44707	-0.182000	0.12963	.	MRPL9	-	-		0.423	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	C	NM_031420	Intron	151734851	-1	no_errors	ENST00000368830	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	151734851	C	T	151734851	5	4	110	1	0	0	0	0	0	0	1	0	9843	521	18	4	387	4	MRPL9	1	151734851	Splice_Site	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	243652	151734851	97515770	19	16265										
FLG	2312	genome.wustl.edu	37	chr1	152275379	152275379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtaactaacacttccgtgctGagagtgtctaaacccggatt	9	10	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:152275379G>C	ENST00000368799.1	-	3	12018	c.11983C>G	c.(11983-11985)Cag>Gag	p.Q3995E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3995					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCGTGCTGAGAGTGTCTA	0.408									Ichthyosis																																								0													140	125	130					1																	152275379		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11983C>G	1.37:g.152275379G>C	ENSP00000357789:p.Gln3995Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q3995E	ENST00000368799.1	37	c.11983	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160244	0.09287	.	.	ENSG00000143631	ENST00000368799	T	0.00666	5.91	4.05	-7.05	0.01573	.	.	.	.	.	T	0.00210	0.0006	L	0.36672	1.1	0.09310	N	1	P	0.37864	0.61	B	0.31751	0.135	T	0.45425	-0.9262	9	0.20046	T	0.44	.	5.3626	0.16095	0.0879:0.1124:0.1534:0.6464	.	3995	P20930	FILA_HUMAN	E	3995	ENSP00000357789:Q3995E	ENSP00000357789:Q3995E	Q	-	1	0	FLG	150542003	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.138000	0.03216	-1.128000	0.02922	-0.175000	0.13238	CAG	FLG	-	NULL		0.408	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152275379	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152275379	G	C	152275379	3	2	110	1	0	0	0	0	1	0	0	0	5940	1299	45	1	206	1	FLG	1	152275379	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	540528	152275379	96975242	20	16266										
FLG	2312	genome.wustl.edu	37	chr1	152276263	152276263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aacgtccagaccttcctgctGaccggccacgtgtggactct	10	15	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:152276263G>A	ENST00000368799.1	-	3	11134	c.11099C>T	c.(11098-11100)tCa>tTa	p.S3700L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3700	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCTGCTGACCGGCCACG	0.592									Ichthyosis																																								0													78	83	82					1																	152276263		2203	4297	6500	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11099C>T	1.37:g.152276263G>A	ENSP00000357789:p.Ser3700Leu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3700L	ENST00000368799.1	37	c.11099	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358112	0.24598	.	.	ENSG00000143631	ENST00000368799	T	0.02197	4.4	2.14	1.16	0.20824	.	.	.	.	.	T	0.02342	0.0072	M	0.78916	2.43	0.09310	N	1	D	0.65815	0.995	P	0.58013	0.831	T	0.42085	-0.9472	9	0.16420	T	0.52	.	5.8019	0.18417	0.0:0.0:0.6842:0.3158	.	3700	P20930	FILA_HUMAN	L	3700	ENSP00000357789:S3700L	ENSP00000357789:S3700L	S	-	2	0	FLG	150542887	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.288000	0.18939	0.417000	0.25871	0.552000	0.68991	TCA	FLG	-	NULL		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152276263	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152276263	G	A	152276263	3	1	110	1	0	0	0	0	1	0	0	0	5940	1294	45	1	1090	1	FLG	1	152276263	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	884	152276263	96974358	21	16267										
LCE3C	353144	genome.wustl.edu	37	chr1	152573352	152573352	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggggctgtggccccagttctGaaagtggctgctgcctgagc	16	11	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:152573352G>C	ENST00000333881.3	+	1	215	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	49					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCCCAGTTCTGAAAGTGGCTG	0.617																																																	0													61	56	58					1																	152573352		1817	2724	4541	SO:0001583	missense	353144			BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"Late cornified envelopes"	16612	protein-coding gene	gene with protein product		612615	"small proline rich-like (epidermal differentiation complex) 3A"	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.145G>C	1.37:g.152573352G>C	ENSP00000334644:p.Glu49Gln		A1L420	Missense_Mutation	SNP	NULL	p.E49Q	ENST00000333881.3	37	c.145	CCDS1015.1	1	.	.	.	.	.	.	.	.	.	.	G	4.986	0.183081	0.09495	.	.	ENSG00000244057	ENST00000333881	T	0.04015	3.73	3.86	3.86	0.44501	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.25703	N	0.985569	D	0.61697	0.99	P	0.55260	0.772	T	0.11966	-1.0566	8	0.87932	D	0	.	11.1394	0.48394	0.0:0.0:1.0:0.0	.	49	Q5T5A8	LCE3C_HUMAN	Q	49	ENSP00000334644:E49Q	ENSP00000334644:E49Q	E	+	1	0	LCE3C	150839976	0.046000	0.20272	0.856000	0.33681	0.107000	0.19398	1.717000	0.37991	1.985000	0.57927	0.313000	0.20887	GAA	LCE3C	-	NULL		0.617	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3C	HGNC	protein_coding	OTTHUMT00000040061.2	G	NM_178434		152573352	1	no_errors	ENST00000333881	ensembl	human	known	70_37	missense	SNP	0.927	C	C	152573352	G	C	152573352	3	2	110	1	0	0	0	0	1	0	0	0	8691	1291	45	1	147	1	LCE3C	1	152573352	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	297089	152573352	96677269	22	16268										
CEP350	9857	genome.wustl.edu	37	chr1	180062302	180062302	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaagacattcacgaacaaaaGaacacaaaggaaaaagattt	6	6	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:180062302G>C	ENST00000367607.3	+	34	7480	c.7062G>C	c.(7060-7062)aaG>aaC	p.K2354N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2354					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACGAACAAAAGAACACAAAGG	0.343																																																	0													34	33	34					1																	180062302		2201	4296	6497	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7062G>C	1.37:g.180062302G>C	ENSP00000356579:p.Lys2354Asn		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K2354N	ENST00000367607.3	37	c.7062	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.009165|2.009165	0.35415|0.35415	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.58358	.|0.34	5.93|5.93	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.45867	.|D	.|0.000324	T|T	0.33702|0.33702	0.0872|0.0872	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P;P	.|0.39665	.|0.682;0.501	.|B;B	.|0.35550	.|0.205;0.109	T|T	0.23904|0.23904	-1.0175|-1.0175	5|9	.|.	.|.	.|.	.|.	3.3078|3.3078	0.07006|0.07006	0.1035:0.1367:0.5339:0.226|0.1035:0.1367:0.5339:0.226	.|.	.|2354;2354	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Q|N	529|2354	.|ENSP00000356579:K2354N	.|.	E|K	+|+	1|3	0|2	CEP350|CEP350	178328925|178328925	0.998000|0.998000	0.40836|0.40836	0.652000|0.652000	0.29579|0.29579	0.789000|0.789000	0.44602|0.44602	0.966000|0.966000	0.29331|0.29331	1.247000|1.247000	0.43917|0.43917	0.650000|0.650000	0.86243|0.86243	GAA|AAG	CEP350	-	NULL		0.343	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180062302	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.361	C	C	180062302	G	C	180062302	3	2	110	1	0	0	0	0	1	0	0	0	3259	933	33	1	7192	1	CEP350	1	180062302	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	27488950	180062302	69188319	23	16269										
CEP350	9857	genome.wustl.edu	37	chr1	180063347	180063347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agcaacagcagtttacagaaGaggaagacaacctatatgct	9	8	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:180063347G>C	ENST00000367607.3	+	34	8525	c.8107G>C	c.(8107-8109)Gag>Cag	p.E2703Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2703					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTTACAGAAGAGGAAGACAA	0.413																																																	0													41	41	41					1																	180063347		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8107G>C	1.37:g.180063347G>C	ENSP00000356579:p.Glu2703Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2703Q	ENST00000367607.3	37	c.8107	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.073|0.073	-1.198114|-1.198114	0.01594|0.01594	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.58210|.	0.35|.	5.73|5.73	-4.3|-4.3	0.03710|0.03710	.|.	1.451680|.	0.04435|.	N|.	0.369894|.	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.33059|0.33059	-0.9883|-0.9883	9|5	.|.	.|.	.|.	.|.	9.4226|9.4226	0.38561|0.38561	0.4087:0.1155:0.4759:0.0|0.4087:0.1155:0.4759:0.0	.|.	2703;2703|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|T	2703;167|877	ENSP00000356579:E2703Q|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178329970|178329970	0.982000|0.982000	0.34865|0.34865	0.000000|0.000000	0.03702|0.03702	0.084000|0.084000	0.17831|0.17831	0.346000|0.346000	0.19997|0.19997	-0.717000|-0.717000	0.04955|0.04955	-1.641000|-1.641000	0.00772|0.00772	GAG|AGA	CEP350	-	NULL		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180063347	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.001	C	C	180063347	G	C	180063347	3	2	110	1	0	0	0	0	1	0	0	0	3259	943	33	1	8237	1	CEP350	1	180063347	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1045	180063347	69187274	24	16270										
PTPRC	5788	genome.wustl.edu	37	chr1	198700745	198700745	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaatctttaatatgtttccaGatgatgaaaaacaactgatg	7	5	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:198700745G>C	ENST00000367376.2	+	18	2029		c.e18-1		PTPRC_ENST00000348564.6_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000442510.2_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATGTTTCCAGATGATGAAAA	0.353																																																	0													110	108	109					1																	198700745		2203	4300	6503	SO:0001630	splice_region_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1859-1G>C	1.37:g.198700745G>C			A8K7W6|Q16614|Q9H0Y6	Splice_Site	SNP	-	e17-1	ENST00000367376.2	37	c.1865-1		1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042176	0.75732	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9128	0.92493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRC	196967368	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.909000	0.92647	2.433000	0.82419	0.650000	0.86243	.	PTPRC	-	-		0.353	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G		Intron	198700745	1	no_errors	ENST00000442510	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	198700745	G	C	198700745	5	2	110	1	0	0	0	0	0	0	1	0	12827	956	33	1	1935	1	PTPRC	1	198700745	Splice_Site	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	18637398	198700745	50549876	25	16271										
FMOD	2331	genome.wustl.edu	37	chr1	203316850	203316850	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgtgagatctggttgtggtcGagatggagctctctcaggga	16	7	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:203316850G>A	ENST00000354955.4	-	2	1012	c.549C>T	c.(547-549)ctC>ctT	p.L183L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	183					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTTGTGGTCGAGATGGAGCT	0.592																																																	0													132	134	133					1																	203316850		2203	4300	6503	SO:0001819	synonymous_variant	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.549C>T	1.37:g.203316850G>A			Q15331|Q8IV47	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L183	ENST00000354955.4	37	c.549	CCDS30976.1	1																																																																																			FMOD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.592	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1	G	NM_002023		203316850	-1	no_errors	ENST00000354955	ensembl	human	known	70_37	silent	SNP	0.000	A	A	203316850	G	A	203316850	2	1	110	1	0	0	0	0	0	0	0	1	5977	1045	37	1		1	FMOD	1	203316850	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4616105	203316850	45933771	26	16272										
CR1L	1379	genome.wustl.edu	37	chr1	207881609	207881609	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaagccaccaatttgtcaacGtgagttgaaatctctttccc	7	11	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:207881609G>A	ENST00000508064.2	+	10	1474		c.e10+1		CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTTGTCAACGtgagttgaaa	0.443																																																	0													242	230	234					1																	207881609		1898	4112	6010	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1414+1G>A	1.37:g.207881609G>A			Q32MC9|Q8NEU7	Splice_Site	SNP	-	e10+1	ENST00000508064.2	37	c.1414+1	CCDS44310.1	1	.	.	.	.	.	.	.	.	.	.	g	9.840	1.190717	0.21954	.	.	ENSG00000197721	ENST00000508064	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.43110	D	0.994812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8536	0.24028	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1L	205948232	0.573000	0.26676	0.299000	0.25016	0.206000	0.24218	1.630000	0.37081	1.251000	0.43983	0.298000	0.19748	.	CR1L	-	-		0.443	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	G	XM_114735	Intron	207881609	1	no_errors	ENST00000508064	ensembl	human	known	70_37	splice_site	SNP	0.444	A	A	207881609	G	A	207881609	5	1	110	1	0	0	0	0	0	0	1	0	3846	1159	40	2	1453	2	CR1L	1	207881609	Splice_Site	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4564759	207881609	41369012	27	16273										
USH2A	7399	genome.wustl.edu	37	chr1	215955461	215955461	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaaatggttgaattccctCtttatcagagaagctcagtg	9	8	3	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:215955461C>A	ENST00000307340.3	-	54	11049	c.10663G>T	c.(10663-10665)Gag>Tag	p.E3555*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.E3555*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3555	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAATTCCCTCTTTATCAGAG	0.413										HNSCC(13;0.011)																																							0													100	97	98					1																	215955461		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10663G>T	1.37:g.215955461C>A	ENSP00000305941:p.Glu3555*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E3555*	ENST00000307340.3	37	c.10663	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	53	20.446476	0.99930	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.76	-7.94	0.01152	.	1.345070	0.05275	N	0.518344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.5497	0.33444	0.0:0.3649:0.3207:0.3144	.	.	.	.	X	3555	.	ENSP00000305941:E3555X	E	-	1	0	USH2A	214022084	0.000000	0.05858	0.000000	0.03702	0.801000	0.45260	-0.327000	0.07955	-1.474000	0.01879	-0.806000	0.03193	GAG	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215955461	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	215955461	C	A	215955461	4	1	110	1	0	0	0	0	0	1	0	0	17067	922	32	3	5021	3	USH2A	1	215955461	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	8073852	215955461	33295160	28	16274										
IARS2	55699	genome.wustl.edu	37	chr1	220275594	220275594	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtatgaagccaaacagttgaGaactttttaccaaatgtatg	8	6	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:220275594G>C	ENST00000302637.5	+	4	778	c.674G>C	c.(673-675)aGa>aCa	p.R225T	IARS2_ENST00000366922.1_Missense_Mutation_p.R153T	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	225					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAACAGTTGAGAACTTTTTAC	0.308																																																	0													89	88	88					1																	220275594		2203	4298	6501	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.674G>C	1.37:g.220275594G>C	ENSP00000303279:p.Arg225Thr		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.R225T	ENST00000302637.5	37	c.674	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749686	0.49257	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.43294	0.95;0.95	5.96	3.88	0.44766	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.263848	0.49305	D	0.000160	T	0.45276	0.1334	M	0.76574	2.34	0.37888	D	0.930603	P	0.39424	0.673	B	0.42738	0.396	T	0.54417	-0.8297	10	0.59425	D	0.04	-10.995	7.5947	0.28041	0.3292:0.0:0.6708:0.0	.	225	Q9NSE4	SYIM_HUMAN	T	153;225	ENSP00000355889:R153T;ENSP00000303279:R225T	ENSP00000303279:R225T	R	+	2	0	IARS2	218342217	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	4.986000	0.63851	1.512000	0.48834	0.650000	0.86243	AGA	IARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase		0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		G	NM_018060		220275594	1	no_errors	ENST00000302637	ensembl	human	known	70_37	missense	SNP	0.979	C	C	220275594	G	C	220275594	3	2	110	1	0	0	0	0	1	0	0	0	7494	942	33	1	688	1	IARS2	1	220275594	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4320133	220275594	28975027	29	16275										
LGALS8	3964	genome.wustl.edu	37	chr1	236703888	236703888	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgtaaatggaaaacatactCtgctctatggccacaggatc	8	10	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:236703888C>G	ENST00000366584.4	+	5	936	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.L124V|LGALS8_ENST00000526589.1_Missense_Mutation_p.L124V|LGALS8_ENST00000450372.2_Missense_Mutation_p.L124V|LGALS8_ENST00000352231.2_Missense_Mutation_p.L124V|LGALS8_ENST00000416919.2_Intron|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.L124V|LGALS8_ENST00000323938.6_Missense_Mutation_p.L97V|LGALS8_ENST00000341872.6_Missense_Mutation_p.L124V	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	124	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAAACATACTCTGCTCTATGG	0.418																																																	0													114	121	119					1																	236703888		2203	4300	6503	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.370C>G	1.37:g.236703888C>G	ENSP00000355543:p.Leu124Val		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L124V	ENST00000366584.4	37	c.370	CCDS1612.1	1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434531	0.43224	.	.	ENSG00000116977	ENST00000454943;ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000323938;ENST00000526634	T;T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	5.46	3.48	0.39840	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.19886	0.0478	M	0.70275	2.135	0.80722	D	1	D;P	0.71674	0.998;0.762	D;P	0.71184	0.972;0.534	T	0.00677	-1.1614	10	0.42905	T	0.14	-3.65	10.9005	0.47049	0.0:0.7868:0.0:0.2132	.	124;124	O00214;O00214-2	LEG8_HUMAN;.	V	124;124;124;124;124;124;124;124;124;97;124	ENSP00000405504:L124V;ENSP00000431398:L124V;ENSP00000309576:L124V;ENSP00000385999:L124V;ENSP00000435460:L124V;ENSP00000342139:L124V;ENSP00000408657:L124V;ENSP00000355543:L124V;ENSP00000434860:L97V;ENSP00000437040:L124V	ENSP00000434860:L97V	L	+	1	2	LGALS8	234770511	0.670000	0.27512	0.374000	0.26016	0.488000	0.33401	1.307000	0.33516	1.549000	0.49425	-0.136000	0.14681	CTG	LGALS8	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.418	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	C	NM_006499		236703888	1	no_errors	ENST00000352231	ensembl	human	known	70_37	missense	SNP	0.724	G	G	236703888	C	G	236703888	3	3	110	1	0	0	0	0	1	0	0	0	8767	912	32	1	384	1	LGALS8	1	236703888	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	16428294	236703888	12546733	30	16276										
RYR2	6262	genome.wustl.edu	37	chr1	237756843	237756843	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgggtgggctggattacatCagatttccatcagtatgaca	11	8	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:237756843C>T	ENST00000366574.2	+	33	4660	c.4343C>T	c.(4342-4344)tCa>tTa	p.S1448L	RYR2_ENST00000542537.1_Missense_Mutation_p.S1432L|RYR2_ENST00000360064.6_Missense_Mutation_p.S1446L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1448	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTACATCAGATTTCCAT	0.413																																																	0													106	98	101					1																	237756843		1915	4120	6035	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4343C>T	1.37:g.237756843C>T	ENSP00000355533:p.Ser1448Leu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S1446L	ENST00000366574.2	37	c.4337	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266859	0.80469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69435	-0.4;-0.4;-0.4	5.26	5.26	0.73747	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.226779	0.28544	N	0.014969	T	0.58192	0.2105	L	0.27053	0.805	0.80722	D	1	B	0.24043	0.096	B	0.21917	0.037	T	0.57929	-0.7726	10	0.87932	D	0	.	19.0623	0.93097	0.0:1.0:0.0:0.0	.	1448	Q92736	RYR2_HUMAN	L	1448;1446;1432	ENSP00000355533:S1448L;ENSP00000353174:S1446L;ENSP00000443798:S1432L	ENSP00000353174:S1446L	S	+	2	0	RYR2	235823466	0.993000	0.37304	0.072000	0.20136	0.979000	0.70002	7.647000	0.83462	2.727000	0.93392	0.650000	0.86243	TCA	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237756843	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.811	T	T	237756843	C	T	237756843	3	4	110	1	0	0	0	0	1	0	0	0	13799	838	29	1	4473	1	RYR2	1	237756843	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1052955	237756843	11493778	31	16277										
RYR2	6262	genome.wustl.edu	37	chr1	237936946	237936946	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acactcttacagagtatattCaggtaaacatttaaacatgg	6	7	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:237936946C>T	ENST00000366574.2	+	87	12090	c.11773C>T	c.(11773-11775)Cag>Tag	p.Q3925*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3909*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3931*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3925					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGTATATTCAGGTAAACAT	0.368																																																	0													78	74	75					1																	237936946		1844	4089	5933	SO:0001587	stop_gained	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11773C>T	1.37:g.237936946C>T	ENSP00000355533:p.Gln3925*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Q3931*	ENST00000366574.2	37	c.11791	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	53	21.337708	0.99939	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.0707	18.7632	0.91862	0.0:1.0:0.0:0.0	.	.	.	.	X	3925;3931;3909;899	.	ENSP00000353174:Q3931X	Q	+	1	0	RYR2	236003569	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.776000	0.85560	2.493000	0.84123	0.579000	0.79373	CAG	RYR2	-	pfam_RIH_assoc-dom		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237936946	1	no_errors	ENST00000360064	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	237936946	C	T	237936946	4	4	110	1	0	0	0	0	0	1	0	0	13799	827	29	1	12119	1	RYR2	1	237936946	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	180103	237936946	11313675	32	16278										
KIF26B	55083	genome.wustl.edu	37	chr1	245766083	245766083	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tttttccacaagacgcttctCaggtgggtatcagccccctc	8	14	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:245766083C>T	ENST00000407071.2	+	6	1995	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	KIF26B_ENST00000366518.4_Nonsense_Mutation_p.Q138*	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	519	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGACGCTTCTCAGGTGGGTAT	0.522																																																	0													108	107	107					1																	245766083		1899	4130	6029	SO:0001587	stop_gained	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1555C>T	1.37:g.245766083C>T	ENSP00000385545:p.Gln519*		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q519*	ENST00000407071.2	37	c.1555	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.606308	0.98881	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	.	.	.	X	519;138;135	.	ENSP00000355475:Q138X	Q	+	1	0	KIF26B	243832706	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	7.776000	0.85560	2.745000	0.94114	0.655000	0.94253	CAG	KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.522	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	C	XM_371354		245766083	1	no_errors	ENST00000407071	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	245766083	C	T	245766083	4	4	110	1	0	0	0	0	0	1	0	0	8315	827	29	1	1577	1	KIF26B	1	245766083	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	7829137	245766083	3484538	33	16279										
ADAM17	6868	genome.wustl.edu	37	chr2	9676906	9676906	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccatccaccaccacgaccttGaaattttgtgaaaaacgttc	5	13	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:9676906G>C	ENST00000310823.3	-	3	464	c.282C>G	c.(280-282)ttC>ttG	p.F94L	ADAM17_ENST00000497134.1_Missense_Mutation_p.F94L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	94					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCACGACCTTGAAATTTTGTG	0.373																																																	0													153	129	137					2																	9676906		2203	4300	6503	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.282C>G	2.37:g.9676906G>C	ENSP00000309968:p.Phe94Leu		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F94L	ENST00000310823.3	37	c.282	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601335	0.46423	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.06608	3.28;3.28	5.42	3.58	0.41010	Peptidase M12B, propeptide (1);	0.147699	0.64402	N	0.000007	T	0.05135	0.0137	L	0.33093	0.98	0.41498	D	0.988263	B;B;B;B	0.21381	0.001;0.055;0.001;0.055	B;B;B;B	0.26864	0.007;0.074;0.007;0.074	T	0.42224	-0.9464	10	0.23891	T	0.37	.	6.0513	0.19787	0.2082:0.1608:0.631:0.0	.	94;94;94;94	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	94	ENSP00000309968:F94L;ENSP00000418728:F94L	ENSP00000309968:F94L	F	-	3	2	ADAM17	9594357	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.141000	0.31528	0.623000	0.30267	0.585000	0.79938	TTC	ADAM17	-	pfam_Peptidase_M12B_N		0.373	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9676906	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9676906	G	C	9676906	3	2	110	1	0	0	0	0	1	0	0	0	238	1281	45	1	2260	1	ADAM17	2	9676906	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		9676906	233522467	34	16280										
GREB1	9687	genome.wustl.edu	37	chr2	11738894	11738894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aagctagacacggaggcacaGacaaaatttaaggcttttct	9	8	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:11738894G>C	ENST00000381486.2	+	15	2541	c.2241G>C	c.(2239-2241)caG>caC	p.Q747H	GREB1_ENST00000234142.5_Missense_Mutation_p.Q747H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	747						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGAGGCACAGACAAAATTTA	0.463																																					Ovarian(39;850 945 2785 23371 33093)												0													188	189	188					2																	11738894		1947	4151	6098	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2241G>C	2.37:g.11738894G>C	ENSP00000370896:p.Gln747His		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.Q747H	ENST00000381486.2	37	c.2241	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	5.938	0.357049	0.11239	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.49432	3.1;3.1;0.78	5.16	1.22	0.21188	.	0.077265	0.53938	D	0.000044	T	0.43678	0.1258	L	0.41573	1.285	0.09310	N	0.999994	P;D	0.56035	0.955;0.974	P;P	0.53360	0.724;0.724	T	0.20605	-1.0270	10	0.42905	T	0.14	-34.3521	6.0841	0.19958	0.2543:0.2396:0.5061:0.0	.	381;747	C9JIG0;Q4ZG55	.;GREB1_HUMAN	H	747;747;381	ENSP00000370896:Q747H;ENSP00000234142:Q747H;ENSP00000403886:Q381H	ENSP00000234142:Q747H	Q	+	3	2	GREB1	11656345	1.000000	0.71417	0.008000	0.14137	0.197000	0.23852	1.232000	0.32636	0.552000	0.29026	-0.140000	0.14226	CAG	GREB1	-	NULL		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	G	NM_014668		11738894	1	no_errors	ENST00000234142	ensembl	human	known	70_37	missense	SNP	0.084	C	C	11738894	G	C	11738894	3	2	110	1	0	0	0	0	1	0	0	0	6780	933	33	1	2403	1	GREB1	2	11738894	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2061988	11738894	231460479	35	16281										
LPIN1	23175	genome.wustl.edu	37	chr2	11913826	11913826	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggctgtgatttaccctcagtCagcctcataccctaattcgg	8	13	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:11913826C>T	ENST00000256720.2	+	5	770	c.677C>T	c.(676-678)tCa>tTa	p.S226L	LPIN1_ENST00000396099.1_Missense_Mutation_p.S232L|LPIN1_ENST00000425416.2_Missense_Mutation_p.S232L|LPIN1_ENST00000449576.2_Missense_Mutation_p.S275L|LPIN1_ENST00000396098.1_Missense_Mutation_p.S232L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	226					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TACCCTCAGTCAGCCTCATAC	0.473																																																	0													129	128	128					2																	11913826		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.677C>T	2.37:g.11913826C>T	ENSP00000256720:p.Ser226Leu		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.S275L	ENST00000256720.2	37	c.824	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441279	0.63067	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.88741	-1.42;-2.42;-1.41;-1.46;-1.46	5.49	5.49	0.81192	.	0.386692	0.27202	N	0.020449	D	0.87549	0.6205	M	0.61703	1.905	0.80722	D	1	B;B;B	0.20671	0.004;0.004;0.047	B;B;B	0.22601	0.025;0.006;0.04	T	0.83206	-0.0076	10	0.27082	T	0.32	-6.8908	16.5233	0.84322	0.0:1.0:0.0:0.0	.	275;226;232	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	L	275;232;232;232;226	ENSP00000397908:S275L;ENSP00000379405:S232L;ENSP00000379406:S232L;ENSP00000401522:S232L;ENSP00000256720:S226L	ENSP00000256720:S226L	S	+	2	0	LPIN1	11831277	0.998000	0.40836	0.971000	0.41717	0.845000	0.48019	4.829000	0.62737	2.591000	0.87537	0.591000	0.81541	TCA	LPIN1	-	NULL		0.473	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	C	NM_145693		11913826	1	no_errors	ENST00000449576	ensembl	human	known	70_37	missense	SNP	0.990	T	T	11913826	C	T	11913826	3	4	110	1	0	0	0	0	1	0	0	0	8941	838	29	1	691	1	LPIN1	2	11913826	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	174932	11913826	231285547	36	16282										
SLC5A6	8884	genome.wustl.edu	37	chr2	27429780	27429780	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtcacagttccacacactcGcacagttttattgaatcgaa	7	11	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:27429780G>A	ENST00000310574.3	-	4	897	c.424C>T	c.(424-426)Cga>Tga	p.R142*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.R142*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	142					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CCACACACTCGCACAGTTTTA	0.463																																																	0													243	246	245					2																	27429780		2203	4300	6503	SO:0001587	stop_gained	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.424C>T	2.37:g.27429780G>A	ENSP00000310208:p.Arg142*		B2RB85|D6W549|Q969Y5	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R142*	ENST00000310574.3	37	c.424	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464243	0.63513	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463	.	.	.	5.94	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7837	0.52030	0.0:0.0:0.6804:0.3196	.	.	.	.	X	142	.	ENSP00000310208:R142X	R	-	1	2	SLC5A6	27283284	1.000000	0.71417	0.190000	0.23270	0.003000	0.03518	5.003000	0.63959	0.804000	0.34136	0.563000	0.77884	CGA	SLC5A6	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.463	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27429780	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27429780	G	A	27429780	4	1	110	1	0	0	0	0	0	1	0	0	14699	1095	38	2	1539	2	SLC5A6	2	27429780	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	15515954	27429780	215769593	37	16283										
GPN1	9913	genome.wustl.edu	37	chr2	27870730	27870730	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atctcctgtgctgcacccttCtgatttgatcctgactcgag	8	13	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:27870730C>T	ENST00000337768.5	-	0	4488				GPN1_ENST00000503738.1_Missense_Mutation_p.S225F|GPN1_ENST00000407583.3_Missense_Mutation_p.S308F|GPN1_ENST00000424214.1_Missense_Mutation_p.S241F|GPN1_ENST00000610189.1_Missense_Mutation_p.S320F|GPN1_ENST00000458167.2_Missense_Mutation_p.S225F|GPN1_ENST00000264718.3_Missense_Mutation_p.S334F|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.S241F	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCACCCTTCTGATTTGATC	0.463																																																	0													164	128	140					2																	27870730		2203	4300	6503	SO:0001628	intergenic_variant	11321			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947		2.37:g.27870730C>T			B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,smart_AAA+_ATPase	p.S334F	ENST00000337768.5	37	c.1001	CCDS42667.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212269	0.79240	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T	0.47869	0.83;0.83	5.38	5.38	0.77491	.	0.107159	0.64402	D	0.000004	T	0.67116	0.2859	M	0.67953	2.075	0.58432	D	0.999991	D;P;D	0.65815	0.995;0.745;0.993	D;P;P	0.75484	0.986;0.526;0.855	T	0.68209	-0.5469	10	0.66056	D	0.02	-10.0753	15.9733	0.80036	0.0:1.0:0.0:0.0	.	334;225;308	B4DQM4;B4DXU4;B5MBZ5	.;.;.	F	241;225;225;241;308;334	ENSP00000384255:S308F;ENSP00000264718:S334F	ENSP00000264718:S334F	S	+	2	0	GPN1	27724234	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.268000	0.58883	2.800000	0.96347	0.643000	0.83706	TCT	GPN1	-	NULL		0.463	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000324568.1	C	NM_014860		27870730	1	no_errors	ENST00000264718	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27870730	C	T	27870730	1	4	110	0	1	0	0	0	0	0	0	0	6636	913	32	1		1	GPN1	2	27870730	IGR	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	440950	27870730	215328643	38	16284										
BRE	9577	genome.wustl.edu	37	chr2	28248247	28248247	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	actggaggagccacagtatgGagagaacatggaaatttatg	13	5	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:28248247G>C	ENST00000342045.2	+	6	596	c.455G>C	c.(454-456)gGa>gCa	p.G152A	BRE_ENST00000379632.2_Missense_Mutation_p.G152A|BRE_ENST00000344773.2_Missense_Mutation_p.G152A|BRE_ENST00000379624.1_Missense_Mutation_p.G152A|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000361704.2_Missense_Mutation_p.G152A	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCACAGTATGGAGAGAACATG	0.398																																																	0													56	61	59					2																	28248247		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.455G>C	2.37:g.28248247G>C	ENSP00000339371:p.Gly152Ala			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.G152A	ENST00000342045.2	37	c.455	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410649	0.42715	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629;ENST00000379623	.	.	.	5.51	5.51	0.81932	.	0.054016	0.64402	D	0.000001	T	0.59742	0.2216	L	0.43152	1.355	0.80722	D	1	D;P;P;P	0.56521	0.976;0.952;0.94;0.94	P;P;P;P	0.54060	0.741;0.69;0.563;0.563	T	0.54483	-0.8287	9	0.02654	T	1	-16.2614	19.4545	0.94882	0.0:0.0:1.0:0.0	.	152;152;152;152	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	A	152;152;152;152;152;152;152;54	.	ENSP00000339371:G152A	G	+	2	0	BRE	28101751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	2.590000	0.87494	0.650000	0.86243	GGA	BRE	-	pfam_Brain/reproduct-express_prot		0.398	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	G			28248247	1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28248247	G	C	28248247	3	2	110	1	0	0	0	0	1	0	0	0	1512	1174	41	1	469	1	BRE	2	28248247	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	377517	28248247	214951126	39	16285										
FOSL2	2355	genome.wustl.edu	37	chr2	28616645	28616645	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cccggggcagcagcggctctCctgcgcacgccgagtcctac	13	18	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:28616645C>G	ENST00000264716.4	+	1	921	c.58C>G	c.(58-60)Cct>Gct	p.P20A	AC104695.3_ENST00000445878.1_RNA|FOSL2_ENST00000379619.1_Intron|FOSL2_ENST00000545753.1_5'Flank|FOSL2_ENST00000460736.1_Intron|AC104695.3_ENST00000427929.1_RNA	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	20					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCGGCTCTCCTGCGCACGC	0.692																																																	0													13	14	14					2																	28616645		2198	4292	6490	SO:0001583	missense	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.58C>G	2.37:g.28616645C>G	ENSP00000264716:p.Pro20Ala		B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.P20A	ENST00000264716.4	37	c.58	CCDS1766.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655194	0.88056	.	.	ENSG00000075426	ENST00000264716	T	0.64438	-0.1	4.8	4.8	0.61643	.	0.142160	0.49305	D	0.000160	T	0.73697	0.3620	M	0.79123	2.44	0.80722	D	1	D	0.61697	0.99	P	0.54629	0.757	T	0.74569	-0.3622	10	0.33141	T	0.24	-5.2875	16.6134	0.84900	0.0:1.0:0.0:0.0	.	20	P15408	FOSL2_HUMAN	A	20	ENSP00000264716:P20A	ENSP00000264716:P20A	P	+	1	0	FOSL2	28470149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.491000	0.73649	2.198000	0.70561	0.448000	0.29417	CCT	FOSL2	-	NULL		0.692	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL2	HGNC	protein_coding	OTTHUMT00000215116.2	C	NM_005253		28616645	1	no_errors	ENST00000264716	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28616645	C	G	28616645	3	3	110	1	0	0	0	0	1	0	0	0	6006	855	30	1	60	1	FOSL2	2	28616645	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	368398	28616645	214582728	40	16286										
FAM179A	165186	genome.wustl.edu	37	chr2	29225481	29225481	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gccacctctcagaggctgctGagggtgcccaggccgatgcc	14	15	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:29225481G>C	ENST00000379558.4	+	5	858	c.507G>C	c.(505-507)ctG>ctC	p.L169L	FAM179A_ENST00000403861.2_Silent_p.L169L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	169										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGGCTGCTGAGGGTGCCCA	0.657																																																	0													23	28	27					2																	29225481		1953	4146	6099	SO:0001819	synonymous_variant	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.507G>C	2.37:g.29225481G>C			Q6ZUF5	Silent	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.L169	ENST00000379558.4	37	c.507	CCDS1769.2	2																																																																																			FAM179A	-	NULL		0.657	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	G	NM_199280		29225481	1	no_errors	ENST00000379558	ensembl	human	known	70_37	silent	SNP	0.508	C	C	29225481	G	C	29225481	2	2	110	1	0	0	0	0	0	0	0	1	5520	1277	45	1		1	FAM179A	2	29225481	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	608836	29225481	213973892	41	16287										
FBXO11	80204	genome.wustl.edu	37	chr2	48040408	48040408	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atatacagatgccaccatctCttccatcatggattttattt	4	10	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:48040408C>G	ENST00000403359.3	-	18	2264	c.2192G>C	c.(2191-2193)aGa>aCa	p.R731T	FBXO11_ENST00000434523.2_Missense_Mutation_p.R155T|FBXO11_ENST00000316377.4_Missense_Mutation_p.R647T|FBXO11_ENST00000402508.1_Missense_Mutation_p.R647T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	731					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCACCATCTCTTCCATCATG	0.333			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											138	143	141					2																	48040408		2203	4299	6502	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2192G>C	2.37:g.48040408C>G	ENSP00000384823:p.Arg731Thr		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.R731T	ENST00000403359.3	37	c.2192	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.220203|5.220203	0.95139|0.95139	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	.|T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.19;-1.19	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86477|0.86477	0.5942|0.5942	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.985	.|P;D	.|0.63381	.|0.869;0.914	D|D	0.87535|0.87535	0.2455|0.2455	5|10	.|0.72032	.|D	.|0.01	-6.6464|-6.6464	19.1978|19.1978	0.93696|0.93696	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|155;731	.|B3KUR1;Q86XK2	.|.;FBX11_HUMAN	N|T	522|647;731;647;155	.|ENSP00000385398:R647T;ENSP00000384823:R731T;ENSP00000323822:R647T;ENSP00000397359:R155T	.|ENSP00000323822:R647T	K|R	-|-	3|2	2|0	FBXO11|FBXO11	47893912|47893912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	AAG|AGA	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	C	NM_012167, NM_018693, NM_025133		48040408	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48040408	C	G	48040408	3	3	110	1	0	0	0	0	1	0	0	0	5745	913	32	1	701	1	FBXO11	2	48040408	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	18814927	48040408	195158965	42	16288										
SPTBN1	6711	genome.wustl.edu	37	chr2	54864866	54864866	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atagacataggaagaatcgtGagacagccagtgaacttttg	11	6	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:54864866G>C	ENST00000356805.4	+	18	4065	c.3784G>C	c.(3784-3786)Gag>Cag	p.E1262Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1249Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1262					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAGAATCGTGAGACAGCCAG	0.328																																																	0													138	138	138					2																	54864866		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3784G>C	2.37:g.54864866G>C	ENSP00000349259:p.Glu1262Gln		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1262Q	ENST00000356805.4	37	c.3784	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589117	0.46110	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.35421	1.31;1.31	5.67	5.67	0.87782	.	0.232645	0.42964	D	0.000638	T	0.36138	0.0956	L	0.39514	1.22	0.38931	D	0.957951	B;B	0.12630	0.004;0.006	B;B	0.25759	0.025;0.063	T	0.10917	-1.0609	10	0.32370	T	0.25	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	1249;1262	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	1262;1249	ENSP00000349259:E1262Q;ENSP00000334156:E1249Q	ENSP00000334156:E1249Q	E	+	1	0	SPTBN1	54718370	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	6.671000	0.74472	2.697000	0.92050	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.328	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54864866	1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	0.998	C	C	54864866	G	C	54864866	3	2	110	1	0	0	0	0	1	0	0	0	15149	1291	45	1	3963	1	SPTBN1	2	54864866	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6824458	54864866	188334507	43	16289										
RETSAT	54884	genome.wustl.edu	37	chr2	85576669	85576669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtagtggttgaccagcagggCgtgcatggaaaaggcactgt	16	7	0	1	rs149931287		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:85576669C>T	ENST00000295802.4	-	5	947	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	RETSAT_ENST00000263854.6_Missense_Mutation_p.A279T|RETSAT_ENST00000457495.2_Missense_Mutation_p.A218T	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	279					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ACCAGCAGGGCGTGCATGGAA	0.567																																																	0								C	THR/ALA	0,4406		0,0,2203	83	73	76		835	5.4	0.9	2	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RETSAT	NM_017750.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	279/611	85576669	2,13004	2203	4300	6503	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.835G>A	2.37:g.85576669C>T	ENSP00000295802:p.Ala279Thr		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.A279T	ENST00000295802.4	37	c.835	CCDS1972.1	2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751713	0.49362	0.0	2.33E-4	ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495	T;T;T	0.61158	0.13;0.13;0.13	5.44	5.44	0.79542	.	0.161907	0.56097	D	0.000035	T	0.73133	0.3548	M	0.88979	2.995	0.18873	N	0.999987	D;D;D	0.65815	0.987;0.987;0.995	P;P;P	0.55713	0.782;0.782;0.581	T	0.70193	-0.4939	10	0.48119	T	0.1	-10.8834	11.8001	0.52122	0.1754:0.8246:0.0:0.0	.	218;218;279	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	279;279;218	ENSP00000295802:A279T;ENSP00000263854:A279T;ENSP00000405040:A218T	ENSP00000263854:A279T	A	-	1	0	RETSAT	85430180	0.047000	0.20315	0.894000	0.35097	0.025000	0.11179	0.995000	0.29706	2.559000	0.86315	0.563000	0.77884	GCC	RETSAT	-	pfam_FAD-dep_OxRdtase		0.567	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	C	NM_017750		85576669	-1	no_errors	ENST00000295802	ensembl	human	known	70_37	missense	SNP	0.251	T	T	85576669	C	T	85576669	3	4	110	1	0	0	0	0	1	0	0	0	13268	768	27	2	1025	2	RETSAT	2	85576669	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	30711803	85576669	157622704	44	16290										
ELMOD3	84173	genome.wustl.edu	37	chr2	85598618	85598618	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtcctccagaccatctataaGaagctgaccggctccaagtt	8	13	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:85598618G>A	ENST00000409890.2	+	10	1207	c.540G>A	c.(538-540)aaG>aaA	p.K180K	RN7SL113P_ENST00000497900.2_RNA|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000315658.7_Silent_p.K180K|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.K180K|ELMOD3_ENST00000393852.4_Silent_p.K180K|ELMOD3_ENST00000409013.3_Silent_p.K180K|ELMOD3_ENST00000428955.2_Silent_p.K180K			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	180	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CCATCTATAAGAAGCTGACCG	0.547																																																	0													95	94	95					2																	85598618		2203	4300	6503	SO:0001819	synonymous_variant	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.540G>A	2.37:g.85598618G>A			B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	pfam_Engulfment_cell_motility_ELMO	p.K180	ENST00000409890.2	37	c.540	CCDS46352.1	2																																																																																			ELMOD3	-	pfam_Engulfment_cell_motility_ELMO		0.547	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD3	HGNC	protein_coding	OTTHUMT00000329124.1	G	NM_032213		85598618	1	no_errors	ENST00000315658	ensembl	human	known	70_37	silent	SNP	1.000	A	A	85598618	G	A	85598618	2	1	110	1	0	0	0	0	0	0	0	1	5082	933	33	1		1	ELMOD3	2	85598618	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	21949	85598618	157600755	45	16291										
TMEM150A	129303	genome.wustl.edu	37	chr2	85828196	85828196	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtcttgggacccccttgctCagcagggtcaggagggcagg	17	11	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:85828196C>T	ENST00000409668.1	-	3	615	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TMEM150A_ENST00000306353.3_Silent_p.L19L|TMEM150A_ENST00000334462.5_Missense_Mutation_p.E50K			Q86TG1	T150A_HUMAN	transmembrane protein 150A	50					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCCCCTTGCTCAGCAGGGTCA	0.642																																																	0													56	49	51					2																	85828196		2203	4300	6503	SO:0001583	missense	129303			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.148G>A	2.37:g.85828196C>T	ENSP00000387292:p.Glu50Lys		A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.E50K	ENST00000409668.1	37	c.148	CCDS33233.1	2	.	.	.	.	.	.	.	.	.	.	C	3.166	-0.171002	0.06421	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.40756	1.02;1.02	5.06	2.91	0.33838	.	0.213663	0.37577	N	0.002032	T	0.09905	0.0243	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35201	-0.9798	10	0.02654	T	1	-12.0325	3.837	0.08899	0.0:0.5856:0.2575:0.1569	.	50	Q86TG1	T150A_HUMAN	K	50	ENSP00000334708:E50K;ENSP00000387292:E50K	ENSP00000334708:E50K	E	-	1	0	TMEM150A	85681707	0.154000	0.22792	0.997000	0.53966	0.997000	0.91878	0.611000	0.24268	1.075000	0.40932	0.655000	0.94253	GAG	TMEM150A	-	pfam_Frag1/DRAM/Sfk1		0.642	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM150A	HGNC	protein_coding	OTTHUMT00000329474.1	C	NM_153342		85828196	-1	no_errors	ENST00000334462	ensembl	human	known	70_37	missense	SNP	0.021	T	T	85828196	C	T	85828196	3	4	110	1	0	0	0	0	1	0	0	0	16097	835	29	1	687	1	TMEM150A	2	85828196	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	229578	85828196	157371177	46	16292										
RGPD4	285190	genome.wustl.edu	37	chr2	108489281	108489281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaatgtgaactgtcaaagaaCtctgatatcgaacagtcttc	7	8	3	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:108489281C>A	ENST00000408999.3	+	20	4898	c.4821C>A	c.(4819-4821)aaC>aaA	p.N1607K	RGPD4_ENST00000354986.4_Missense_Mutation_p.N1607K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1607					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGTCAAAGAACTCTGATATCG	0.358																																																	0													4	4	4					2																	108489281		655	1501	2156	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4821C>A	2.37:g.108489281C>A	ENSP00000386810:p.Asn1607Lys		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.N1607K	ENST00000408999.3	37	c.4821	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	8.358	0.832480	0.16820	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38887	1.11;1.12	2.33	0.391	0.16282	.	.	.	.	.	T	0.32071	0.0817	L	0.60455	1.87	0.09310	N	1	P	0.39216	0.664	B	0.32928	0.155	T	0.17592	-1.0364	9	0.51188	T	0.08	-5.4116	5.786	0.18333	0.0:0.6847:0.0:0.3153	.	1607	Q7Z3J3	RGPD4_HUMAN	K	1607;1607;974	ENSP00000347081:N1607K;ENSP00000386810:N1607K	ENSP00000347081:N1607K	N	+	3	2	RGPD4	107855713	0.000000	0.05858	0.088000	0.20740	0.204000	0.24138	-0.070000	0.11523	0.310000	0.22990	0.162000	0.16502	AAC	RGPD4	-	NULL		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108489281	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.008	A	A	108489281	C	A	108489281	3	1	110	1	0	0	0	0	1	0	0	0	13318	564	20	4	4899	4	RGPD4	2	108489281	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	22661085	108489281	134710092	47	16293										
GCC2	9648	genome.wustl.edu	37	chr2	109086905	109086905	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggatgctcaacatataaagGatgagttttttcatgaacgg	10	5	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:109086905G>C	ENST00000309863.6	+	6	1834	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	374					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACATATAAAGGATGAGTTTTT	0.279																																																	0													50	55	54					2																	109086905		2079	4246	6325	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1120G>C	2.37:g.109086905G>C	ENSP00000307939:p.Asp374His		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.D374H	ENST00000309863.6	37	c.1120	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064605	0.55432	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.36157	1.27	5.8	5.8	0.92144	.	0.061186	0.64402	D	0.000004	T	0.40932	0.1137	N	0.19112	0.55	0.42132	D	0.991472	D	0.76494	0.999	P	0.61397	0.888	T	0.22556	-1.0213	10	0.45353	T	0.12	.	13.2776	0.60196	0.0723:0.0:0.9277:0.0	.	374	Q8IWJ2	GCC2_HUMAN	H	374;374;337;119	ENSP00000307939:D374H	ENSP00000307939:D374H	D	+	1	0	GCC2	108453337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.625000	0.74248	2.737000	0.93849	0.563000	0.77884	GAT	GCC2	-	NULL		0.279	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109086905	1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109086905	G	C	109086905	3	2	110	1	0	0	0	0	1	0	0	0	6305	1174	41	1	1142	1	GCC2	2	109086905	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	597624	109086905	134112468	48	16294										
GAD1	2571	genome.wustl.edu	37	chr2	171702015	171702015	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aatatgtccgcttgctgacaGggggcgccatatccaacatg	11	11	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:171702015G>A	ENST00000358196.3	+	8	1301		c.e8-1			NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)						gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTTGCTGACAGGGGGCGCCAT	0.512																																																	0													89	90	89					2																	171702015		2203	4300	6503	SO:0001630	splice_region_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.752-1G>A	2.37:g.171702015G>A			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Splice_Site	SNP	-	e7-1	ENST00000358196.3	37	c.752-1	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316743	0.81469	.	.	ENSG00000128683	ENST00000358196	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7657	0.96340	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAD1	171410261	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	9.476000	0.97823	2.649000	0.89929	0.655000	0.94253	.	GAD1	-	-		0.512	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	G		Intron	171702015	1	no_errors	ENST00000358196	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	171702015	G	A	171702015	5	1	110	1	0	0	0	0	0	0	1	0	6197	1014	35	4	818	4	GAD1	2	171702015	Splice_Site	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	62615110	171702015	71497358	49	16295										
TLK1	9874	genome.wustl.edu	37	chr2	171850400	171850400	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtgtgggagaaggtatgggtCatttgccagctggtgcacat	16	6	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:171850400C>A	ENST00000431350.2	-	21	2595	c.2191G>T	c.(2191-2193)Gac>Tac	p.D731Y	TLK1_ENST00000521943.1_Missense_Mutation_p.D683Y|TLK1_ENST00000360843.3_Missense_Mutation_p.D752Y|TLK1_ENST00000434911.2_Missense_Mutation_p.D635Y|TLK1_ENST00000442919.2_Missense_Mutation_p.D683Y			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGGTATGGGTCATTTGCCAGC	0.428																																																	0													161	144	150					2																	171850400		2203	4300	6503	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.2191G>T	2.37:g.171850400C>A	ENSP00000411099:p.Asp731Tyr		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	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.D731Y	ENST00000431350.2	37	c.2191	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621604	0.66787	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	N	0.26092	0.79	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.993;0.986;1.0	T	0.33007	-0.9885	10	0.87932	D	0	-34.8846	19.9855	0.97347	0.0:1.0:0.0:0.0	.	635;752;731	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	Y	683;731;752;683;635	ENSP00000402165:D683Y;ENSP00000411099:D731Y;ENSP00000354089:D752Y;ENSP00000428113:D683Y;ENSP00000409222:D635Y	ENSP00000354089:D752Y	D	-	1	0	TLK1	171558646	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.818000	0.86416	2.735000	0.93741	0.555000	0.69702	GAC	TLK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	C	NM_012290		171850400	-1	no_errors	ENST00000431350	ensembl	human	known	70_37	missense	SNP	1.000	A	A	171850400	C	A	171850400	3	1	110	1	0	0	0	0	1	0	0	0	15973	826	29	3	113	3	TLK1	2	171850400	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	148385	171850400	71348973	50	16296										
HOXD4	3233	genome.wustl.edu	37	chr2	177016536	177016536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acccacggcccgacttcggtGagcagcctttcggaggcagc	13	15	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:177016536G>C	ENST00000306324.3	+	1	587	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	59					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGACTTCGGTGAGCAGCCTTT	0.761																																																	0													8	10	10					2																	177016536		2145	4219	6364	SO:0001583	missense	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.175G>C	2.37:g.177016536G>C	ENSP00000302548:p.Glu59Gln		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.E59Q	ENST00000306324.3	37	c.175	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796016	0.50208	.	.	ENSG00000170166	ENST00000306324	T	0.80994	-1.44	4.31	4.31	0.51392	.	0.056467	0.64402	D	0.000002	D	0.87172	0.6111	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	P	0.54590	0.756	D	0.88669	0.3194	10	0.48119	T	0.1	.	17.1325	0.86729	0.0:0.0:1.0:0.0	.	59	P09016	HXD4_HUMAN	Q	59	ENSP00000302548:E59Q	ENSP00000302548:E59Q	E	+	1	0	HOXD4	176724782	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.366000	0.97143	2.078000	0.62432	0.561000	0.74099	GAG	HOXD4	-	NULL		0.761	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	G			177016536	1	no_errors	ENST00000306324	ensembl	human	known	70_37	missense	SNP	1.000	C	C	177016536	G	C	177016536	3	2	110	1	0	0	0	0	1	0	0	0	7344	1291	45	1	177	1	HOXD4	2	177016536	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5166136	177016536	66182837	51	16297										
TTC30A	92104	genome.wustl.edu	37	chr2	178482973	178482973	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gttgacctggccatcggtctCattgtcgcctccactttctt	8	14	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:178482973C>G	ENST00000355689.5	-	1	721	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	153					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CCATCGGTCTCATTGTCGCCT	0.577																																																	0													136	137	136					2																	178482973		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.457G>C	2.37:g.178482973C>G	ENSP00000347915:p.Glu153Gln		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E153Q	ENST00000355689.5	37	c.457	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	8.345	0.829674	0.16749	.	.	ENSG00000197557	ENST00000355689	T	0.79141	-1.24	5.78	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.238350	0.48286	D	0.000190	T	0.64159	0.2573	N	0.08118	0	0.35030	D	0.7587	B	0.25772	0.134	B	0.28011	0.085	T	0.70204	-0.4936	10	0.72032	D	0.01	.	16.7916	0.85590	0.0:0.8711:0.1289:0.0	.	153	Q86WT1	TT30A_HUMAN	Q	153	ENSP00000347915:E153Q	ENSP00000347915:E153Q	E	-	1	0	TTC30A	178191219	0.844000	0.29557	0.148000	0.22405	0.053000	0.15095	1.812000	0.38952	1.418000	0.47098	0.549000	0.68633	GAG	TTC30A	-	pfscan_TPR-contain_dom		0.577	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178482973	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.988	G	G	178482973	C	G	178482973	3	3	110	1	0	0	0	0	1	0	0	0	16729	835	29	1	1544	1	TTC30A	2	178482973	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1466437	178482973	64716400	52	16298										
DNAJC10	54431	genome.wustl.edu	37	chr2	183584845	183584845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atggagaaaagggacttgagGataatcaaggtggccagtat	14	4	1	2	rs141135661		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:183584845G>A	ENST00000264065.7	+	4	731	c.316G>A	c.(316-318)Gat>Aat	p.D106N	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.D106N	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	106					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGGACTTGAGGATAATCAAGG	0.328																																					Pancreas(56;860 1183 25669 35822 48585)												0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	169	163	165		316	5.9	1	2	dbSNP_134	165	0,8600		0,0,4300	no	missense	DNAJC10	NM_018981.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	106/794	183584845	1,13005	2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.316G>A	2.37:g.183584845G>A	ENSP00000264065:p.Asp106Asn		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin	p.D106N	ENST00000264065.7	37	c.316	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862547	0.91511	2.27E-4	0.0	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.73047	-0.71;-0.71	5.87	5.87	0.94306	Heat shock protein DnaJ, N-terminal (2);	0.101779	0.64402	D	0.000003	T	0.81327	0.4799	L	0.57536	1.79	0.80722	D	1	P;P	0.51653	0.946;0.947	P;P	0.60236	0.871;0.589	T	0.80042	-0.1548	10	0.51188	T	0.08	.	20.1985	0.98248	0.0:0.0:1.0:0.0	.	106;106	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	N	106	ENSP00000264065:D106N;ENSP00000441560:D106N	ENSP00000264065:D106N	D	+	1	0	DNAJC10	183293090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.729000	0.98795	2.767000	0.95098	0.563000	0.77884	GAT	DNAJC10	-	superfamily_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ		0.328	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	G	NM_018981		183584845	1	no_errors	ENST00000264065	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183584845	G	A	183584845	3	1	110	1	0	0	0	0	1	0	0	0	4639	1174	41	1	322	1	DNAJC10	2	183584845	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5101872	183584845	59614528	53	16299										
ZSWIM2	151112	genome.wustl.edu	37	chr2	187693431	187693431	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttcactgctgaatttttccaAgttaaagggttatatataac	6	6	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:187693431A>C	ENST00000295131.2	-	9	1221	c.1182T>G	c.(1180-1182)acT>acG	p.T394T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	394					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATTTTTCCAAGTTAAAGGGT	0.353																																																	0													62	60	61					2																	187693431		2203	4298	6501	SO:0001819	synonymous_variant	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1182T>G	2.37:g.187693431A>C			B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.T394	ENST00000295131.2	37	c.1182	CCDS33348.1	2																																																																																			ZSWIM2	-	NULL		0.353	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	A	NM_182521		187693431	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	silent	SNP	0.999	C	C	187693431	A	C	187693431	2	2	110	1	0	0	0	0	0	0	0	1	18271	59	3	5		5	ZSWIM2	2	187693431	Silent	SNP	A	TCGA-EK-A2RJ-01A-11D-A18J-09	4108586	187693431	55505942	54	16300										
COL5A2	1290	genome.wustl.edu	37	chr2	189929375	189929375	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tacaggaccccgttctccttGagcaccctgtaccgaggcaa	9	15	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:189929375G>A	ENST00000374866.3	-	25	1898	c.1624C>T	c.(1624-1626)Caa>Taa	p.Q542*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	542					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CGTTCTCCTTGAGCACCCTGT	0.483																																																	0													49	52	51					2																	189929375		2203	4300	6503	SO:0001587	stop_gained	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1624C>T	2.37:g.189929375G>A	ENSP00000364000:p.Gln542*		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q542*	ENST00000374866.3	37	c.1624	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.948441	0.99014	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	.	.	.	X	542;182	.	.	Q	-	1	0	COL5A2	189637620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.455000	0.80726	2.788000	0.95919	0.585000	0.79938	CAA	COL5A2	-	NULL		0.483	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189929375	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	189929375	G	A	189929375	4	1	110	1	0	0	0	0	0	1	0	0	3702	1299	45	1	2995	1	COL5A2	2	189929375	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2235944	189929375	53269998	55	16301										
NBEAL1	65065	genome.wustl.edu	37	chr2	204013810	204013810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gcagtcaacagttagccactCttagacgctggaaagcaata	9	10	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:204013810C>G	ENST00000449802.1	+	33	5647	c.5314C>G	c.(5314-5316)Ctt>Gtt	p.L1772V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1772										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTAGCCACTCTTAGACGCTG	0.388																																																	0													83	77	79					2																	204013810		1850	4083	5933	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5314C>G	2.37:g.204013810C>G	ENSP00000399903:p.Leu1772Val		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1772V	ENST00000449802.1	37	c.5314	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.856111	0.32791	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55760	0.5	5.96	-0.837	0.10766	.	0.068538	0.64402	D	0.000016	T	0.43853	0.1266	M	0.75264	2.295	0.37598	D	0.920456	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.28396	-1.0045	10	0.18710	T	0.47	.	7.0856	0.25255	0.0:0.482:0.2022:0.3157	.	1772;1761	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	1772	ENSP00000399903:L1772V	ENSP00000344985:L1772V	L	+	1	0	NBEAL1	203722055	0.917000	0.31117	0.254000	0.24359	0.939000	0.58152	1.186000	0.32078	-0.078000	0.12730	-0.792000	0.03331	CTT	NBEAL1	-	NULL		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204013810	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.873	G	G	204013810	C	G	204013810	3	3	110	1	0	0	0	0	1	0	0	0	10211	913	32	1	5440	1	NBEAL1	2	204013810	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	14084435	204013810	39185563	56	16302										
NDUFS1	4719	genome.wustl.edu	37	chr2	207017199	207017199	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaccatcaacaaatacttCaatcaagttgcttgctgctg	6	11	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:207017199C>T	ENST00000233190.6	-	3	363	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E33K|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E33K|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E47K|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000432169.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	33	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAAATACTTCAATCAAGTTG	0.393																																																	0													131	110	117					2																	207017199		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.97G>A	2.37:g.207017199C>T	ENSP00000233190:p.Glu33Lys		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu	p.E47K	ENST00000233190.6	37	c.139	CCDS2366.1	2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468683	0.84533	.	.	ENSG00000023228	ENST00000233190;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000454195	T;D;T;T;T	0.90133	-1.02;-2.62;-1.02;-1.02;-1.02	5.9	5.9	0.94986	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	L	0.33668	1.02	0.80722	D	1	D;D;D	0.69078	0.96;0.997;0.997	P;D;D	0.69479	0.847;0.964;0.964	D	0.86658	0.1902	10	0.07813	T	0.8	0.0112	20.2723	0.98479	0.0:1.0:0.0:0.0	.	33;47;33	E7ENF3;B4DJA0;P28331	.;.;NDUS1_HUMAN	K	33;33;47;33;33	ENSP00000233190:E33K;ENSP00000409766:E33K;ENSP00000392709:E47K;ENSP00000399912:E33K;ENSP00000389413:E33K	ENSP00000233190:E33K	E	-	1	0	NDUFS1	206725444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	2.793000	0.96121	0.563000	0.77884	GAA	NDUFS1	-	superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type		0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS1	HGNC	protein_coding	OTTHUMT00000256391.4	C	NM_005006		207017199	-1	no_errors	ENST00000455934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	207017199	C	T	207017199	3	4	110	1	0	0	0	0	1	0	0	0	10315	835	29	1	2154	1	NDUFS1	2	207017199	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3003389	207017199	36182174	57	16303										
ATG9A	79065	genome.wustl.edu	37	chr2	220087138	220087138	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtggagggccccggcaggatGagccagctaccacatttgcg	15	12	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:220087138G>A	ENST00000409618.1	-	12	2322	c.1883C>T	c.(1882-1884)tCa>tTa	p.S628L	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Missense_Mutation_p.S567L|ATG9A_ENST00000396761.2_Missense_Mutation_p.S628L|ATG9A_ENST00000361242.4_Missense_Mutation_p.S628L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	628					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCAGGATGAGCCAGCTAC	0.607																																																	0													39	44	42					2																	220087138		1954	4144	6098	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1883C>T	2.37:g.220087138G>A	ENSP00000386710:p.Ser628Leu		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.S628L	ENST00000409618.1	37	c.1883	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918160	0.52546	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.31510	1.9;1.9;1.9;1.49;1.5	5.35	5.35	0.76521	.	0.242563	0.43416	D	0.000575	T	0.27832	0.0685	L	0.47716	1.5	0.39433	D	0.967118	B	0.02656	0.0	B	0.01281	0.0	T	0.04153	-1.0973	10	0.37606	T	0.19	-4.7908	12.5613	0.56283	0.0756:0.0:0.9244:0.0	.	628	Q7Z3C6	ATG9A_HUMAN	L	628;628;628;567;187	ENSP00000379983:S628L;ENSP00000386710:S628L;ENSP00000355173:S628L;ENSP00000386535:S567L;ENSP00000400234:S187L	ENSP00000355173:S628L	S	-	2	0	ATG9A	219795382	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	5.572000	0.67411	2.790000	0.95986	0.591000	0.81541	TCA	ATG9A	-	NULL		0.607	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	G	NM_024085		220087138	-1	no_errors	ENST00000361242	ensembl	human	known	70_37	missense	SNP	0.999	A	A	220087138	G	A	220087138	3	1	110	1	0	0	0	0	1	0	0	0	1103	1294	45	1	656	1	ATG9A	2	220087138	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	13069939	220087138	23112235	58	16304										
INHA	3623	genome.wustl.edu	37	chr2	220437117	220437117	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atggtgctgcacctactgctCttcttgctgctgaccccaca	8	15	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:220437117C>T	ENST00000243786.2	+	1	201	c.21C>T	c.(19-21)ctC>ctT	p.L7L	OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000289656.3_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	7					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACCTACTGCTCTTCTTGCTGC	0.647											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													66	66	66					2																	220437117		2203	4300	6503	SO:0001819	synonymous_variant	3623				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.21C>T	2.37:g.220437117C>T		2266	A8K8H5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.L7	ENST00000243786.2	37	c.21	CCDS2444.1	2																																																																																			INHA	-	pirsf_Inhibin_asu_subgr		0.647	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	HGNC	protein_coding	OTTHUMT00000131425.1	C			220437117	1	no_errors	ENST00000243786	ensembl	human	known	70_37	silent	SNP	0.066	T	T	220437117	C	T	220437117	2	4	110	1	0	0	0	0	0	0	0	1	7760	900	32	1		1	INHA	2	220437117	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	349979	220437117	22762256	59	16305										
MLPH	79083	genome.wustl.edu	37	chr2	238419253	238419253	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	attaagaaggaaagctccaaGagggagctgctttccgacac	11	9	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:238419253G>C	ENST00000264605.3	+	3	441	c.147G>C	c.(145-147)aaG>aaC	p.K49N	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.K49N|MLPH_ENST00000338530.4_Missense_Mutation_p.K49N|MLPH_ENST00000410032.1_Missense_Mutation_p.K49N|MLPH_ENST00000409373.1_Missense_Mutation_p.K49N	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	49	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AAAGCTCCAAGAGGGAGCTGC	0.502																																																	0													40	43	42					2																	238419253		2203	4299	6502	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.147G>C	2.37:g.238419253G>C	ENSP00000264605:p.Lys49Asn		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.K49N	ENST00000264605.3	37	c.147	CCDS2518.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080908	0.76528	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.98	3.17	0.36434	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.310858	0.33346	N	0.005002	D	0.89403	0.6705	M	0.88906	2.99	0.41084	D	0.985547	D;D;D;D;D;D	0.76494	0.999;0.999;0.995;0.999;0.998;0.999	D;D;P;D;D;D	0.75020	0.933;0.966;0.823;0.985;0.956;0.918	D	0.88623	0.3164	10	0.54805	T	0.06	-2.272	10.0845	0.42410	0.1628:0.0:0.8372:0.0	.	49;49;49;49;49;49	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	N	49	ENSP00000409170:K49N;ENSP00000403909:K49N;ENSP00000386338:K49N;ENSP00000264605:K49N;ENSP00000414849:K49N;ENSP00000341845:K49N;ENSP00000386780:K49N	ENSP00000264605:K49N	K	+	3	2	MLPH	238083992	1.000000	0.71417	0.831000	0.32960	0.985000	0.73830	2.837000	0.48191	0.507000	0.28148	0.563000	0.77884	AAG	MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.502	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	G	NM_024101		238419253	1	no_errors	ENST00000264605	ensembl	human	known	70_37	missense	SNP	1.000	C	C	238419253	G	C	238419253	3	2	110	1	0	0	0	0	1	0	0	0	9656	933	33	1	153	1	MLPH	2	238419253	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	17982136	238419253	4780120	60	16306										
LRRFIP1	9208	genome.wustl.edu	37	chr2	238680788	238680788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caaactagacaatcttcgatCtgaagatgatgtcttggaaa	8	7	3	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:238680788C>G	ENST00000308482.9	+	21	1643	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C	LRRFIP1_ENST00000468950.1_3'UTR	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0	DNA-binding.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AATCTTCGATCTGAAGATGAT	0.398																																																	0													112	104	107					2																	238680788		1568	3582	5150	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1574C>G	2.37:g.238680788C>G	ENSP00000310109:p.Ser525Cys		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin	p.S525C	ENST00000308482.9	37	c.1574	CCDS46551.1	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023122	0.54683	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.46451	0.87	5.35	5.35	0.76521	.	.	.	.	.	T	0.58438	0.2122	M	0.66939	2.045	0.80722	D	1	P;P	0.48764	0.858;0.915	P;P	0.54924	0.764;0.764	T	0.60409	-0.7269	9	0.56958	D	0.05	.	18.0808	0.89440	0.0:1.0:0.0:0.0	.	279;525	B4DPC0;E9PGZ2	.;.	C	525;515	ENSP00000310109:S525C	ENSP00000310109:S525C	S	+	2	0	LRRFIP1	238345527	0.063000	0.20901	0.004000	0.12327	0.012000	0.07955	2.759000	0.47573	2.491000	0.84063	0.557000	0.71058	TCT	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.398	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000257169.3	C	NM_004735		238680788	1	no_errors	ENST00000308482	ensembl	human	putative	70_37	missense	SNP	0.056	G	G	238680788	C	G	238680788	3	3	110	1	0	0	0	0	1	0	0	0	9050	913	32	1	3268	1	LRRFIP1	2	238680788	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	261535	238680788	4518585	61	16307										
C2orf54	79919	genome.wustl.edu	37	chr2	241830999	241830999	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	accaggtccaccccttggctGaggatccttctcaagctgcc	9	16	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:241830999G>A	ENST00000388934.4	-	2	854	c.696C>T	c.(694-696)ctC>ctT	p.L232L	C2orf54_ENST00000402775.2_Silent_p.L64L|C2orf54_ENST00000307486.8_Silent_p.L83L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	232										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCCCTTGGCTGAGGATCCTTC	0.672																																																	0													49	58	55					2																	241830999		2002	4162	6164	SO:0001819	synonymous_variant	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.696C>T	2.37:g.241830999G>A			B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	NULL	p.L232	ENST00000388934.4	37	c.696	CCDS42839.1	2																																																																																			C2orf54	-	NULL		0.672	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	HGNC	protein_coding	OTTHUMT00000324353.1	G	NM_024861, NM_001085437		241830999	-1	no_errors	ENST00000388934	ensembl	human	known	70_37	silent	SNP	0.000	A	A	241830999	G	A	241830999	2	1	110	1	0	0	0	0	0	0	0	1	2180	1277	45	1		1	C2orf54	2	241830999	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3150211	241830999	1368374	62	16308										
CHL1	10752	genome.wustl.edu	37	chr3	369910	369910	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaccatcggataattccatcGaacaattcaggaacattcag	7	10	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:369910G>A	ENST00000256509.2	+	5	900	c.258G>A	c.(256-258)tcG>tcA	p.S86S	CHL1_ENST00000397491.2_Silent_p.S86S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAATTCCATCGAACAATTCAG	0.378																																																	0													137	132	134					3																	369910		2203	4299	6502	SO:0001819	synonymous_variant	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.258G>A	3.37:g.369910G>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S86	ENST00000256509.2	37	c.258	CCDS2556.1	3																																																																																			CHL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	G	NM_006614		369910	1	no_errors	ENST00000256509	ensembl	human	known	70_37	silent	SNP	0.004	A	A	369910	G	A	369910	2	1	110	1	0	0	0	0	0	0	0	1	3354	1045	37	1		1	CHL1	3	369910	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		369910	197652520	63	16309										
CLASP2	23122	genome.wustl.edu	37	chr3	33638217	33638217	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcttaccatccagcttgtcaGaagtatcctctttgatgaaa	6	10	3	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:33638217G>C	ENST00000468888.2	-	19	1983	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	CLASP2_ENST00000307312.7_Missense_Mutation_p.S134C|CLASP2_ENST00000480013.1_Missense_Mutation_p.S412C|CLASP2_ENST00000359576.5_Missense_Mutation_p.S645C|CLASP2_ENST00000399362.4_Missense_Mutation_p.S645C|CLASP2_ENST00000461133.3_Missense_Mutation_p.S412C|CLASP2_ENST00000539981.1_Missense_Mutation_p.S397C			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	412					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGCTTGTCAGAAGTATCCTC	0.294																																																	0													21	20	21					3																	33638217		1796	4049	5845	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1937C>G	3.37:g.33638217G>C	ENSP00000419974:p.Ser646Cys		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S645C	ENST00000468888.2	37	c.1934		3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548809	0.86127	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.19250	2.16;2.17;2.19	5.72	5.72	0.89469	Armadillo-type fold (1);	0.169011	0.39759	N	0.001262	T	0.29389	0.0732	N	0.22421	0.69	0.40081	D	0.976131	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.01743	-1.1283	10	0.56958	D	0.05	-5.9498	18.4207	0.90590	0.0:0.0:1.0:0.0	.	412;645	O75122;F5H604	CLAP2_HUMAN;.	C	646;645;645;134;397;412;412	ENSP00000419974:S646C;ENSP00000382297:S645C;ENSP00000352581:S645C	ENSP00000304743:S134C	S	-	2	0	CLASP2	33613221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.585000	0.74062	2.857000	0.98124	0.650000	0.86243	TCT	CLASP2	-	superfamily_ARM-type_fold		0.294	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	G	NM_001207044		33638217	-1	no_errors	ENST00000399362	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33638217	G	C	33638217	3	2	110	1	0	0	0	0	1	0	0	0	3460	942	33	1	2666	1	CLASP2	3	33638217	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	33268307	33638217	164384213	64	16310										
CTNNB1	1499	genome.wustl.edu	37	chr3	41279559	41279559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggagaaccccttggatatcGccaggatggtatgtgtctca	13	9	1	1	rs200308943		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:41279559G>A	ENST00000349496.5	+	14	2409	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	CTNNB1_ENST00000453024.1_Missense_Mutation_p.R703H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R710H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R710H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R710H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	710					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTTGGATATCGCCAGGATGGT	0.413		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0	0	5008	,	,		17744	0		0.001	False		,,,				2504	0				Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	229	218	222		2129,2129,2129	5.2	1	3		222	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CTNNB1	NM_001098209.1,NM_001098210.1,NM_001904.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	710/782,710/782,710/782	41279559	1,13005	2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2129G>A	3.37:g.41279559G>A	ENSP00000344456:p.Arg710His		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.R710H	ENST00000349496.5	37	c.2129	CCDS2694.1	3	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.75	3.466953	0.63625	0.0	1.16E-4	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	N	0.22421	0.69	0.80722	D	1	D;B	0.54772	0.968;0.011	B;B	0.41036	0.346;0.004	T	0.18967	-1.0320	10	0.33940	T	0.23	-5.8813	18.7623	0.91856	0.0:0.0:1.0:0.0	.	638;710	B4DSW9;P35222	.;CTNB1_HUMAN	H	710;710;710;703;710	ENSP00000385604:R710H;ENSP00000379486:R710H;ENSP00000344456:R710H;ENSP00000411226:R703H;ENSP00000379488:R710H	ENSP00000344456:R710H	R	+	2	0	CTNNB1	41254563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.445000	0.82738	0.591000	0.81541	CGC	CTNNB1	-	NULL		0.413	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	G	NM_001098210		41279559	1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41279559	G	A	41279559	3	1	110	1	0	0	0	0	1	0	0	0	4021	1087	38	2	2179	2	CTNNB1	3	41279559	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	7641342	41279559	156742871	65	16311										
XCR1	2829	genome.wustl.edu	37	chr3	46063416	46063416	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tagtaaaaaaaggtggtgctCtctgggttgcctgaggactc	13	7	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:46063416C>G	ENST00000309285.3	-	2	380	c.24G>C	c.(22-24)gaG>gaC	p.E8D	XCR1_ENST00000542109.1_Missense_Mutation_p.E8D	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	8					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTGGTGCTCTCTGGGTTGC	0.527																																																	0													59	64	62					3																	46063416		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.24G>C	3.37:g.46063416C>G	ENSP00000310405:p.Glu8Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.E8D	ENST00000309285.3	37	c.24	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317905	0.23994	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67865	-0.29;-0.29	3.92	0.747	0.18371	.	2.443350	0.01375	N	0.012709	T	0.43567	0.1253	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.32877	-0.9890	10	0.12766	T	0.61	.	5.0596	0.14550	0.3847:0.3959:0.2194:0.0	.	8	P46094	XCR1_HUMAN	D	8	ENSP00000310405:E8D;ENSP00000438119:E8D	ENSP00000310405:E8D	E	-	3	2	XCR1	46038420	0.000000	0.05858	0.034000	0.17996	0.009000	0.06853	-0.711000	0.05019	0.601000	0.29879	0.650000	0.86243	GAG	XCR1	-	NULL		0.527	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	C			46063416	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	missense	SNP	0.000	G	G	46063416	C	G	46063416	3	3	110	1	0	0	0	0	1	0	0	0	17456	912	32	1	981	1	XCR1	3	46063416	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4783857	46063416	151959014	66	16312										
CCDC12	151903	genome.wustl.edu	37	chr3	47018170	47018170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggccttcagccgttcctttCgccgcaacgcctcttcctct	8	18	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:47018170C>T	ENST00000546280.1	-	1	100	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	CCDC12_ENST00000425441.1_Missense_Mutation_p.R31Q|CCDC12_ENST00000605358.1_5'Flank|CCDC12_ENST00000292314.2_Missense_Mutation_p.R31Q	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	18										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CCGTTCCTTTCGCCGCAACGC	0.647																																																	0													87	67	74					3																	47018170		2203	4300	6503	SO:0001583	missense	151903			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.53G>A	3.37:g.47018170C>T	ENSP00000441327:p.Arg18Gln		Q8N8I4	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf18	p.R31Q	ENST00000546280.1	37	c.92		3	.	.	.	.	.	.	.	.	.	.	C	36	5.637194	0.96693	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.52	5.52	0.82312	.	0.127262	0.56097	D	0.000036	D	0.85948	0.5816	M	0.94101	3.495	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.992	D	0.88736	0.3240	9	0.87932	D	0	-17.2033	14.8084	0.69974	0.0:1.0:0.0:0.0	.	18;18;18	B4DID2;B4DZZ9;Q8WUD4	.;.;CCD12_HUMAN	Q	31;31;18;31	.	ENSP00000292314:R31Q	R	-	2	0	CCDC12	46993174	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	3.560000	0.53763	2.873000	0.98535	0.563000	0.77884	CGA	CCDC12	-	pfam_mRNA_splic_Cwf18		0.647	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	CCDC12	HGNC	protein_coding		C	NM_144716		47018170	-1	no_errors	ENST00000292314	ensembl	human	known	70_37	missense	SNP	0.989	T	T	47018170	C	T	47018170	3	4	110	1	0	0	0	0	1	0	0	0	2760	884	31	1	475	1	CCDC12	3	47018170	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	954754	47018170	151004260	67	16313										
PLXNB1	5364	genome.wustl.edu	37	chr3	48461614	48461614	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggctttgggggctgtgggtGgggaggggctgggtccacct	23	7	0	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:48461614G>C	ENST00000358536.4	-	11	2350	c.2081C>G	c.(2080-2082)cCa>cGa	p.P694R	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P694R|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000358459.4_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	694	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGTGGGTGGGGAGGGGCT	0.677																																																	0													4	4	4					3																	48461614		2069	4037	6106	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2081C>G	3.37:g.48461614G>C	ENSP00000351338:p.Pro694Arg		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P694R	ENST00000358536.4	37	c.2081	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542045	0.85917	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03553	3.89;3.89	3.95	3.95	0.45737	.	0.690854	0.13577	N	0.377642	T	0.07143	0.0181	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	10	0.45353	T	0.12	.	13.3133	0.60393	0.0:0.0:1.0:0.0	.	694	O43157	PLXB1_HUMAN	R	694	ENSP00000296440:P694R;ENSP00000351338:P694R	ENSP00000296440:P694R	P	-	2	0	PLXNB1	48436618	0.988000	0.35896	0.996000	0.52242	0.583000	0.36354	1.980000	0.40618	2.034000	0.60081	0.561000	0.74099	CCA	PLXNB1	-	NULL		0.677	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	G	NM_002673		48461614	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.976	C	C	48461614	G	C	48461614	3	2	110	1	0	0	0	0	1	0	0	0	12147	1348	47	4	4438	4	PLXNB1	3	48461614	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1443444	48461614	149560816	68	16314										
USP4	7375	genome.wustl.edu	37	chr3	49372952	49372952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caggaaataggttatgttcaCccacattgtacatgtcccag	8	10	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:49372952C>T	ENST00000265560.4	-	2	225	c.179G>A	c.(178-180)gGt>gAt	p.G60D	USP4_ENST00000415188.1_Missense_Mutation_p.G60D|USP4_ENST00000351842.4_Missense_Mutation_p.G60D|USP4_ENST00000416417.1_Missense_Mutation_p.G60D	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	60	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GTTATGTTCACCCACATTGTA	0.438																																																	0													140	122	128					3																	49372952		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.179G>A	3.37:g.49372952C>T	ENSP00000265560:p.Gly60Asp		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.G60D	ENST00000265560.4	37	c.179	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755984	0.49362	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.33216	1.94;2.06;1.42	5.01	5.01	0.66863	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.	.	.	.	T	0.52581	0.1743	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.54309	-0.8313	9	0.72032	D	0.01	-16.2065	16.1677	0.81782	0.0:1.0:0.0:0.0	.	60;60	Q13107-2;Q13107	.;UBP4_HUMAN	D	60	ENSP00000341028:G60D;ENSP00000265560:G60D;ENSP00000400623:G60D	ENSP00000265560:G60D	G	-	2	0	USP4	49347956	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	5.612000	0.67681	2.481000	0.83766	0.462000	0.41574	GGT	USP4	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.438	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	C	NM_199443		49372952	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49372952	C	T	49372952	3	4	110	1	0	0	0	0	1	0	0	0	17102	507	18	4	2796	4	USP4	3	49372952	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	911338	49372952	148649478	69	16315										
CACNA2D2	9254	genome.wustl.edu	37	chr3	50407782	50407782	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaaaacgtgtccttcagactCaaagctgctggggagcagga	13	9	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:50407782C>G	ENST00000479441.1	-	24	2034	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E603Q|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E672Q|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.E679Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E679Q|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E672Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E672Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E672Q|XXcos-LUCA11.4_ENST00000606665.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	679					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCTTCAGACTCAAAGCTGCTG	0.637																																																	0													72	50	57					3																	50407782		2197	4292	6489	SO:0001583	missense	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2035G>C	3.37:g.50407782C>G	ENSP00000418081:p.Glu679Gln		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E679Q	ENST00000479441.1	37	c.2035	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101601	0.76983	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06371	3.31;3.33;3.33;3.34;3.31;3.33;3.33;3.32	4.57	4.57	0.56435	.	0.057159	0.64402	D	0.000002	T	0.23054	0.0557	M	0.71581	2.175	0.54753	D	0.999988	D;D	0.71674	0.997;0.998	P;D	0.69479	0.885;0.964	T	0.01232	-1.1411	10	0.34782	T	0.22	-21.6303	17.3264	0.87249	0.0:1.0:0.0:0.0	.	679;672	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Q	679;672;672;603;679;672;672;679	ENSP00000407393:E679Q;ENSP00000404631:E672Q;ENSP00000266039:E672Q;ENSP00000354228:E603Q;ENSP00000390526:E679Q;ENSP00000378519:E672Q;ENSP00000390329:E672Q;ENSP00000418081:E679Q	ENSP00000266039:E672Q	E	-	1	0	CACNA2D2	50382786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.311000	0.78958	2.252000	0.74401	0.563000	0.77884	GAG	CACNA2D2	-	NULL		0.637	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	C	NM_006030		50407782	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50407782	C	G	50407782	3	3	110	1	0	0	0	0	1	0	0	0	2554	835	29	1	1487	1	CACNA2D2	3	50407782	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1034830	50407782	147614648	70	16316										
NEK4	6787	genome.wustl.edu	37	chr3	52799977	52799977	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atgcttcaaggtggccatttCatagacacagcatcctagag	9	10	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:52799977C>T	ENST00000233027.5	-	4	794	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	NEK4_ENST00000535191.1_Missense_Mutation_p.E109K|NEK4_ENST00000383721.4_Missense_Mutation_p.E198K	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GTGGCCATTTCATAGACACAG	0.313																																																	0													90	90	90					3																	52799977		2203	4299	6502	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.592G>A	3.37:g.52799977C>T	ENSP00000233027:p.Glu198Lys		A5YM70|B2R633|B7Z200|Q6P576	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E198K	ENST00000233027.5	37	c.592	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.646448	0.96704	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.36878	1.23;1.24;1.23;1.24	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75153	-0.3418	10	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	109;198;198	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	K	198;109;198;109	ENSP00000233027:E198K;ENSP00000437703:E109K;ENSP00000373227:E198K;ENSP00000419666:E109K	ENSP00000233027:E198K	E	-	1	0	NEK4	52775017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	GAA	NEK4	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.313	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	C	NM_003157		52799977	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52799977	C	T	52799977	3	4	110	1	0	0	0	0	1	0	0	0	10350	835	29	1	1985	1	NEK4	3	52799977	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2392195	52799977	145222453	71	16317										
SELK	58515	genome.wustl.edu	37	chr3	53920923	53920923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagatgagtttccatagcttCttctttttttcacatcttgc	5	10	4	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:53920923C>T	ENST00000495461.1	-	3	348	c.149G>A	c.(148-150)aGa>aAa	p.R50K	SELK_ENST00000485414.1_5'Flank|SELK_ENST00000541726.1_Missense_Mutation_p.R50K			Q9Y6D0	SELK_HUMAN		50			R -> S (in dbSNP:rs11562).		calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCCATAGCTTCTTCTTTTTTT	0.313																																																	0													49	45	46					3																	53920923		1817	4066	5883	SO:0001583	missense	58515																														ENST00000495461.1:c.149G>A	3.37:g.53920923C>T	ENSP00000418813:p.Arg50Lys		Q8IZQ3|Q9P085	Missense_Mutation	SNP	pfam_Se_SelK/SelG	p.R50K	ENST00000495461.1	37	c.149	CCDS54597.1	3	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158143	0.21454	.	.	ENSG00000113811	ENST00000495461;ENST00000541726	T;T	0.44482	0.92;0.92	5.33	5.33	0.75918	.	0.106439	0.64402	D	0.000003	T	0.29355	0.0731	.	.	.	0.40350	D	0.979121	B	0.16396	0.017	B	0.19666	0.026	T	0.11470	-1.0586	9	0.09590	T	0.72	-2.006	17.5881	0.87988	0.0:1.0:0.0:0.0	.	50	Q9Y6D0	SELK_HUMAN	K	50	ENSP00000418813:R50K;ENSP00000443164:R50K	ENSP00000417272:R50K	R	-	2	0	RP11-884K10.5	53895963	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.660000	0.46749	2.512000	0.84698	0.462000	0.41574	AGA	SELK	-	pfam_Se_SelK/SelG		0.313	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Uniprot_genename	protein_coding	OTTHUMT00000351659.1	C			53920923	-1	no_errors	ENST00000541726	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53920923	C	T	53920923	3	4	110	1	0	0	0	0	1	0	0	0	14045	913	32	1	147	1	SELK	3	53920923	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1120946	53920923	144101507	72	16318										
KIAA1524	57650	genome.wustl.edu	37	chr3	108279559	108279559	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aatccaggaacaccatctttCaaatgaggagttaaacactt	6	9	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:108279559C>T	ENST00000295746.8	-	14	1840	c.1764G>A	c.(1762-1764)ttG>ttA	p.L588L	KIAA1524_ENST00000487834.1_5'Flank|KIAA1524_ENST00000491772.1_Silent_p.L429L	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	588					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACCATCTTTCAAATGAGGAG	0.348																																																	0													171	172	172					3																	108279559		2203	4300	6503	SO:0001819	synonymous_variant	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1764G>A	3.37:g.108279559C>T			A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	superfamily_ARM-type_fold	p.L588	ENST00000295746.8	37	c.1764	CCDS33812.1	3																																																																																			KIAA1524	-	NULL		0.348	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	C	NM_020890		108279559	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	silent	SNP	0.019	T	T	108279559	C	T	108279559	2	4	110	1	0	0	0	0	0	0	0	1	8259	825	29	1		1	KIAA1524	3	108279559	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	54358636	108279559	89742871	73	16319										
PARP14	54625	genome.wustl.edu	37	chr3	122418794	122418794	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaaaaattaaaagggaagagCaaagtttgaaggaaaaaatg	10	1	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:122418794C>T	ENST00000474629.2	+	6	1659	c.1393C>T	c.(1393-1395)Caa>Taa	p.Q465*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403																																																	0													76	71	72					3																	122418794		1833	4079	5912	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1393C>T	3.37:g.122418794C>T	ENSP00000418194:p.Gln465*		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q465*	ENST00000474629.2	37	c.1393	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728973	0.48833	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	.	.	.	5.32	-0.0775	0.13718	.	0.205962	0.35320	N	0.003296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.9889	0.58608	0.1197:0.416:0.4643:0.0	.	.	.	.	X	465;384	.	ENSP00000381228:Q384X	Q	+	1	0	PARP14	123901484	0.711000	0.27906	0.776000	0.31678	0.174000	0.22865	1.027000	0.30115	0.064000	0.16427	-0.150000	0.13652	CAA	PARP14	-	NULL		0.403	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122418794	1	no_errors	ENST00000474629	ensembl	human	known	70_37	nonsense	SNP	0.108	T	T	122418794	C	T	122418794	4	4	110	1	0	0	0	0	0	1	0	0	11482	711	25	4	1415	4	PARP14	3	122418794	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	14139235	122418794	75603636	74	16320										
ADCY5	111	genome.wustl.edu	37	chr3	123003469	123003469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagctgctaactgagcggggGccctccattgaggaagtagg	15	10	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:123003469G>T	ENST00000462833.1	-	21	4984	c.3772C>A	c.(3772-3774)Ccc>Acc	p.P1258T	ADCY5_ENST00000309879.5_Missense_Mutation_p.P908T|RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000491190.1_Missense_Mutation_p.P916T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1258					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTGAGCGGGGGCCCTCCATTG	0.632																																																	0													137	125	129					3																	123003469		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3772C>A	3.37:g.123003469G>T	ENSP00000419361:p.Pro1258Thr		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P1258T	ENST00000462833.1	37	c.3772	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612482	0.87258	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.80994	-1.03;-1.44;-1.43	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	L	0.33189	0.99	0.80722	D	1	B;D	0.89917	0.23;1.0	B;D	0.91635	0.131;0.999	D	0.86656	0.1901	10	0.62326	D	0.03	.	18.5089	0.90909	0.0:0.0:1.0:0.0	.	1258;916	O95622;B3KWA8	ADCY5_HUMAN;.	T	1258;916;908	ENSP00000419361:P1258T;ENSP00000418537:P916T;ENSP00000308685:P908T	ENSP00000308685:P908T	P	-	1	0	ADCY5	124486159	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	8.930000	0.92872	2.595000	0.87683	0.655000	0.94253	CCC	ADCY5	-	NULL		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123003469	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123003469	G	T	123003469	3	4	110	1	0	0	0	0	1	0	0	0	297	1203	42	4	17	4	ADCY5	3	123003469	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	584675	123003469	75018961	75	16321										
UROC1	131669	genome.wustl.edu	37	chr3	126219628	126219628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gctgcacagggtagtagccgCcattgaacgggttgtggcag	16	9	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:126219628C>A	ENST00000290868.2	-	11	1108	c.1055G>T	c.(1054-1056)gGc>gTc	p.G352V	UROC1_ENST00000383579.3_Missense_Mutation_p.G412V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	352					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTAGTAGCCGCCATTGAACGG	0.612																																																	0													103	98	100					3																	126219628		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1055G>T	3.37:g.126219628C>A	ENSP00000290868:p.Gly352Val		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.G352V	ENST00000290868.2	37	c.1055	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	c	21.4	4.136423	0.77662	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46819	0.86;0.86	4.62	4.62	0.57501	Urocanase domain (2);	0.056754	0.64402	D	0.000001	T	0.76550	0.4003	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83684	0.0173	10	0.87932	D	0	-9.8793	12.9861	0.58592	0.0:1.0:0.0:0.0	.	412;352	E9PE13;Q96N76	.;HUTU_HUMAN	V	352;412	ENSP00000290868:G352V;ENSP00000373073:G412V	ENSP00000290868:G352V	G	-	2	0	UROC1	127702318	1.000000	0.71417	0.923000	0.36655	0.951000	0.60555	7.283000	0.78640	2.124000	0.65301	0.486000	0.48141	GGC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126219628	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	0.997	A	A	126219628	C	A	126219628	3	1	110	1	0	0	0	0	1	0	0	0	17059	739	26	4	1015	4	UROC1	3	126219628	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3216159	126219628	71802802	76	16322										
TMEM108	66000	genome.wustl.edu	37	chr3	133099751	133099751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctcagaaagcactatttctgGagccaaggaggagactgtgg	13	8	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:133099751G>A	ENST00000321871.6	+	4	1406	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.G399E|TMEM108_ENST00000515826.1_Missense_Mutation_p.G399E	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	399						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTATTTCTGGAGCCAAGGAG	0.592																																																	0													49	50	49					3																	133099751		2203	4300	6503	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1196G>A	3.37:g.133099751G>A	ENSP00000324651:p.Gly399Glu		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.G399E	ENST00000321871.6	37	c.1196	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333584	0.01298	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.44083	0.97;0.97;0.93	2.85	-5.7	0.02421	.	2.082560	0.02564	N	0.097055	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.035;0.009	B;B	0.19391	0.025;0.01	T	0.23368	-1.0190	10	0.06891	T	0.86	10.232	5.2709	0.15624	0.136:0.548:0.2197:0.0964	.	399;399	E9PB58;Q6UXF1	.;TM108_HUMAN	E	399	ENSP00000324651:G399E;ENSP00000376838:G399E;ENSP00000423338:G399E	ENSP00000324651:G399E	G	+	2	0	TMEM108	134582441	0.000000	0.05858	0.235000	0.24058	0.684000	0.39900	-2.895000	0.00707	-1.928000	0.01059	-0.305000	0.09177	GGA	TMEM108	-	NULL		0.592	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	G	NM_023943		133099751	1	no_errors	ENST00000321871	ensembl	human	known	70_37	missense	SNP	0.004	A	A	133099751	G	A	133099751	3	1	110	1	0	0	0	0	1	0	0	0	16054	1174	41	1	1202	1	TMEM108	3	133099751	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6880123	133099751	64922679	77	16323										
IL12A	3592	genome.wustl.edu	37	chr3	159711269	159711269	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cctaaattccagagagacctCtttcataactgtaagtcaaa	5	10	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:159711269C>G	ENST00000305579.2	+	4	717	c.410C>G	c.(409-411)tCt>tGt	p.S137C	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.S99C|IL12A_ENST00000466512.1_Intron	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	103					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAGAGACCTCTTTCATAACT	0.333																																																	0													65	66	66					3																	159711269		2203	4300	6503	SO:0001583	missense	3592			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.410C>G	3.37:g.159711269C>G	ENSP00000303231:p.Ser137Cys		Q96QZ1	Missense_Mutation	SNP	pfam_IL12,superfamily_4_helix_cytokine-like_core	p.S137C	ENST00000305579.2	37	c.410	CCDS3187.1	3	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117999	0.20877	.	.	ENSG00000168811	ENST00000305579;ENST00000480787	.	.	.	3.8	3.8	0.43715	.	0.228686	0.31415	N	0.007698	T	0.69477	0.3115	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	P	0.57244	0.816	T	0.74318	-0.3704	9	0.87932	D	0	-8.4295	11.4815	0.50328	0.0:1.0:0.0:0.0	.	137	O60595	.	C	137;99	.	ENSP00000303231:S137C	S	+	2	0	IL12A	161193963	0.290000	0.24343	0.227000	0.23927	0.017000	0.09413	1.859000	0.39418	2.430000	0.82344	0.650000	0.86243	TCT	IL12A	-	pfam_IL12,superfamily_4_helix_cytokine-like_core		0.333	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12A	HGNC	protein_coding	OTTHUMT00000352602.2	C	NM_000882		159711269	1	no_errors	ENST00000305579	ensembl	human	known	70_37	missense	SNP	0.430	G	G	159711269	C	G	159711269	3	3	110	1	0	0	0	0	1	0	0	0	7644	913	32	1	424	1	IL12A	3	159711269	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	26611518	159711269	38311161	78	16324										
FNDC3B	64778	genome.wustl.edu	37	chr3	171969126	171969126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aagcctccgcacaaaaaactGaaagaccgccagatcgatcg	8	13	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:171969126G>A	ENST00000336824.4	+	6	684	c.585G>A	c.(583-585)ctG>ctA	p.L195L	FNDC3B_ENST00000416957.1_Silent_p.L195L|FNDC3B_ENST00000415807.2_Silent_p.L195L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	195					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACAAAAAACTGAAAGACCGCC	0.448																																																	0													63	65	65					3																	171969126		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.585G>A	3.37:g.171969126G>A			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L195	ENST00000336824.4	37	c.585	CCDS3217.1	3																																																																																			FNDC3B	-	NULL		0.448	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	G	NM_022763		171969126	1	no_errors	ENST00000336824	ensembl	human	known	70_37	silent	SNP	0.995	A	A	171969126	G	A	171969126	2	1	110	1	0	0	0	0	0	0	0	1	5988	1277	45	1		1	FNDC3B	3	171969126	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	12257857	171969126	26053304	79	16325										
SENP2	59343	genome.wustl.edu	37	chr3	185329515	185329515	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atcacggagtcaaaacaactCagtttgttccaaaacaatgt	6	9	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:185329515C>G	ENST00000296257.5	+	8	1039	c.799C>G	c.(799-801)Cag>Gag	p.Q267E	SENP2_ENST00000427465.2_Missense_Mutation_p.Q91E|SENP2_ENST00000545472.1_Missense_Mutation_p.Q257E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	267					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAAAACAACTCAGTTTGTTCC	0.383																																																	0													89	93	92					3																	185329515		2203	4300	6503	SO:0001583	missense	59343			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.799C>G	3.37:g.185329515C>G	ENSP00000296257:p.Gln267Glu		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q267E	ENST00000296257.5	37	c.799	CCDS33902.1	3	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262645	0.39995	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.23950	1.88;1.89;1.96	6.15	6.15	0.99193	.	0.771066	0.11874	N	0.521146	T	0.15652	0.0377	N	0.14661	0.345	0.25967	N	0.982548	B;B	0.28055	0.199;0.044	B;B	0.25506	0.061;0.036	T	0.08889	-1.0700	10	0.02654	T	1	-3.5003	16.3388	0.83075	0.0:1.0:0.0:0.0	.	257;267	B4DQ42;Q9HC62	.;SENP2_HUMAN	E	257;267;138;91	ENSP00000439653:Q257E;ENSP00000296257:Q267E;ENSP00000394562:Q91E	ENSP00000296257:Q267E	Q	+	1	0	SENP2	186812209	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.363000	0.44178	2.932000	0.99384	0.643000	0.83706	CAG	SENP2	-	NULL		0.383	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	C	NM_021627		185329515	1	no_errors	ENST00000296257	ensembl	human	known	70_37	missense	SNP	1.000	G	G	185329515	C	G	185329515	3	3	110	1	0	0	0	0	1	0	0	0	14077	827	29	1	829	1	SENP2	3	185329515	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	13360389	185329515	12692915	80	16326										
LEPREL1	55214	genome.wustl.edu	37	chr3	189713147	189713147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agctgtcgccctgtaattctCaatgttctgctgcatttcca	7	12	2	0	rs371483753		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:189713147C>G	ENST00000319332.5	-	2	762	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E8Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	189					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTAATTCTCAATGTTCTGC	0.488																																																	0													160	134	143					3																	189713147		2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.565G>C	3.37:g.189713147C>G	ENSP00000316881:p.Glu189Gln		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E189Q	ENST00000319332.5	37	c.565	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247908	0.59103	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.62941	-0.01;0.96;0.96;0.96	5.34	3.57	0.40892	Tetratricopeptide-like helical (1);	0.102488	0.64402	D	0.000003	T	0.50888	0.1642	L	0.41492	1.28	0.43798	D	0.996345	P	0.38582	0.638	B	0.39904	0.313	T	0.41052	-0.9530	9	.	.	.	-12.8742	8.6762	0.34181	0.0:0.7699:0.0:0.2301	.	189	Q8IVL5	P3H2_HUMAN	Q	189;8;8;8	ENSP00000316881:E189Q;ENSP00000408947:E8Q;ENSP00000391374:E8Q;ENSP00000394326:E8Q	.	E	-	1	0	LEPREL1	191195841	1.000000	0.71417	0.735000	0.30896	0.766000	0.43426	4.458000	0.60095	0.839000	0.34971	0.655000	0.94253	GAG	LEPREL1	-	NULL		0.488	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189713147	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	0.971	G	G	189713147	C	G	189713147	3	3	110	1	0	0	0	0	1	0	0	0	8750	835	29	1	1617	1	LEPREL1	3	189713147	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4383632	189713147	8309283	81	16327										
BST1	683	genome.wustl.edu	37	chr4	15709241	15709241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggcagggttgcagatttcttGagctggtgtcgacagaaaaa	14	6	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:15709241G>C	ENST00000265016.4	+	3	618	c.423G>C	c.(421-423)ttG>ttC	p.L141F	BST1_ENST00000382346.3_Missense_Mutation_p.L156F	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	141					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CAGATTTCTTGAGCTGGTGTC	0.443																																																	0													128	123	124					4																	15709241		2203	4300	6503	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.423G>C	4.37:g.15709241G>C	ENSP00000265016:p.Leu141Phe		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.L141F	ENST00000265016.4	37	c.423	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478544|3.478544	0.63849|0.63849	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346|ENST00000505785	T;T|.	0.27720|.	1.65;1.65|.	5.62|5.62	3.84|3.84	0.44239|0.44239	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74574|.	0.3734|.	M|M	0.86864|0.86864	2.845|2.845	0.49915|0.49915	D|D	0.999839|0.999839	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.75964|.	-0.3132|.	10|.	0.87932|.	D|.	0|.	-26.4209|-26.4209	7.8789|7.8789	0.29610|0.29610	0.0877:0.1608:0.7516:0.0|0.0877:0.1608:0.7516:0.0	.|.	141|.	Q10588|.	BST1_HUMAN|.	F|S	141;156|37	ENSP00000265016:L141F;ENSP00000371783:L156F|.	ENSP00000265016:L141F|.	L|X	+|+	3|2	2|2	BST1|BST1	15318339|15318339	0.997000|0.997000	0.39634|0.39634	0.992000|0.992000	0.48379|0.48379	0.762000|0.762000	0.43233|0.43233	1.534000|1.534000	0.36051|0.36051	1.376000|1.376000	0.46267|0.46267	0.591000|0.591000	0.81541|0.81541	TTG|TGA	BST1	-	pfam_ADP-ribosyl_cyclase		0.443	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	G	NM_004334		15709241	1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	0.998	C	C	15709241	G	C	15709241	3	2	110	1	0	0	0	0	1	0	0	0	1536	1281	45	1	433	1	BST1	4	15709241	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		15709241	175445035	82	16328										
LRRC66	339977	genome.wustl.edu	37	chr4	52861485	52861485	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cattggaatcataacggcttGagccagagacagcgtgagac	12	9	1	3	rs78693090		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:52861485G>C	ENST00000343457.3	-	4	1709	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	568						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATAACGGCTTGAGCCAGAGAC	0.502																																																	0													101	112	108					4																	52861485		2169	4288	6457	SO:0001587	stop_gained	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1703C>G	4.37:g.52861485G>C	ENSP00000341944:p.Ser568*			Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S568*	ENST00000343457.3	37	c.1703	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078363	0.55753	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.15	2.37	0.29283	.	0.203944	0.24820	N	0.035325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-5.0085	6.7394	0.23426	0.0998:0.1797:0.7205:0.0	.	.	.	.	X	568	.	ENSP00000341944:S568X	S	-	2	0	LRRC66	52556242	0.019000	0.18553	0.001000	0.08648	0.001000	0.01503	1.512000	0.35812	0.490000	0.27771	-0.229000	0.12294	TCA	LRRC66	-	NULL		0.502	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	G	NM_001024611		52861485	-1	no_errors	ENST00000343457	ensembl	human	known	70_37	nonsense	SNP	0.002	C	C	52861485	G	C	52861485	4	2	110	1	0	0	0	0	0	1	0	0	9041	1294	45	1	943	1	LRRC66	4	52861485	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	37152244	52861485	138292791	83	16329										
TMEM165	55858	genome.wustl.edu	37	chr4	56277808	56277808	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttacaccagcagctccagttCataccaataaagaagatcct	5	12	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:56277808C>T	ENST00000381334.5	+	2	468	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	TMEM165_ENST00000542052.1_Missense_Mutation_p.H16Y|Y_RNA_ENST00000459077.1_RNA|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	79					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AGCTCCAGTTCATACCAATAA	0.299																																																	0													77	74	75					4																	56277808		2203	4300	6503	SO:0001583	missense	55858			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.235C>T	4.37:g.56277808C>T	ENSP00000370736:p.His79Tyr		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	pfam_UPF0016	p.H79Y	ENST00000381334.5	37	c.235	CCDS3499.1	4	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769365	0.49680	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.83163	-1.69;-1.62	5.41	4.55	0.56014	.	0.616970	0.17311	N	0.178883	T	0.69682	0.3138	N	0.19112	0.55	0.28884	N	0.894264	B;P	0.41450	0.054;0.75	B;B	0.28385	0.043;0.089	T	0.67910	-0.5548	10	0.59425	D	0.04	-0.7602	16.1767	0.81857	0.0:0.8665:0.1335:0.0	.	16;79	B4DHW1;Q9HC07	.;TM165_HUMAN	Y	79;16	ENSP00000370736:H79Y;ENSP00000437816:H16Y	ENSP00000370736:H79Y	H	+	1	0	TMEM165	55972565	0.999000	0.42202	0.944000	0.38274	0.898000	0.52572	1.870000	0.39529	1.470000	0.48102	0.655000	0.94253	CAT	TMEM165	-	NULL		0.299	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	HGNC	protein_coding	OTTHUMT00000250646.4	C	NM_018475		56277808	1	no_errors	ENST00000381334	ensembl	human	known	70_37	missense	SNP	0.981	T	T	56277808	C	T	56277808	3	4	110	1	0	0	0	0	1	0	0	0	16110	826	29	1	241	1	TMEM165	4	56277808	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3416323	56277808	134876468	84	16330										
REST	5978	genome.wustl.edu	37	chr4	57797419	57797419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgctcagagggagccacctCctcccagagagcctcccctt	9	18	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:57797419C>G	ENST00000309042.7	+	4	2709	c.2395C>G	c.(2395-2397)Cct>Gct	p.P799A		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	799	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAGCCACCTCCTCCCAGAGA	0.537																																																	0													106	118	114					4																	57797419		2203	4300	6503	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2395C>G	4.37:g.57797419C>G	ENSP00000311816:p.Pro799Ala		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P799A	ENST00000309042.7	37	c.2395	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	C	6.344	0.431482	0.12045	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.10382	2.88	3.73	2.86	0.33363	.	0.313426	0.23521	N	0.047290	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P;B	0.42908	0.793;0.437	B;B	0.39562	0.303;0.054	T	0.37957	-0.9683	10	0.17832	T	0.49	0.6837	7.5873	0.27999	0.0:0.8772:0.0:0.1228	.	776;799	F8WAN5;Q13127	.;REST_HUMAN	A	799;776	ENSP00000311816:P799A	ENSP00000311816:P799A	P	+	1	0	REST	57492176	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.156000	0.10100	0.876000	0.35872	0.655000	0.94253	CCT	REST	-	NULL		0.537	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2	C	NM_005612		57797419	1	no_errors	ENST00000309042	ensembl	human	known	70_37	missense	SNP	0.003	G	G	57797419	C	G	57797419	3	3	110	1	0	0	0	0	1	0	0	0	13264	855	30	1	2405	1	REST	4	57797419	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1519611	57797419	133356857	85	16331										
LPHN3	23284	genome.wustl.edu	37	chr4	62903458	62903458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taattggctaggtacgaaaaGagtatgggaaatgcctgcga	13	5	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:62903458G>A	ENST00000514591.1	+	23	3726	c.3397G>A	c.(3397-3399)Gag>Aag	p.E1133K	LPHN3_ENST00000508946.1_Missense_Mutation_p.E1133K|LPHN3_ENST00000511324.1_Missense_Mutation_p.E1192K|LPHN3_ENST00000507164.1_Missense_Mutation_p.E1192K|LPHN3_ENST00000514157.1_Missense_Mutation_p.E1124K|LPHN3_ENST00000507625.1_Missense_Mutation_p.E1192K|LPHN3_ENST00000509896.1_Missense_Mutation_p.E1201K|LPHN3_ENST00000506720.1_Missense_Mutation_p.E1201K|LPHN3_ENST00000506700.1_Missense_Mutation_p.E1124K|LPHN3_ENST00000512091.2_Missense_Mutation_p.E1133K|LPHN3_ENST00000545650.1_Missense_Mutation_p.E1133K|LPHN3_ENST00000504896.1_Missense_Mutation_p.E1133K|LPHN3_ENST00000514996.1_Missense_Mutation_p.E1124K|LPHN3_ENST00000508693.1_Missense_Mutation_p.E1201K|LPHN3_ENST00000506746.1_Missense_Mutation_p.E1192K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1111					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGTACGAAAAGAGTATGGGAA	0.383																																																	0													130	128	129					4																	62903458		1907	4146	6053	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3397G>A	4.37:g.62903458G>A	ENSP00000422533:p.Glu1133Lys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.E1192K	ENST00000514591.1	37	c.3574	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.169489|5.169489	0.94768|0.94768	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.110642|.	0.64402|.	D|.	0.000012|.	T|T	0.75860|0.75860	0.3907|0.3907	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.78314|.	0.98;0.98;0.991|.	T|T	0.75019|0.75019	-0.3465|-0.3465	10|5	0.87932|.	D|.	0|.	.|.	19.0694|19.0694	0.93126|0.93126	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1133;1111;1133|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	K|K	1133;1133;1201;1192;1124;1133;1111;1133;1192;1201;1192;1124;1133;1133;1201;1192;1124|581	ENSP00000423388:E1133K;ENSP00000422533:E1133K;ENSP00000423787:E1201K;ENSP00000425033:E1192K;ENSP00000424120:E1124K;ENSP00000439831:E1133K;ENSP00000421476:E1192K;ENSP00000424030:E1201K;ENSP00000421372:E1192K;ENSP00000425201:E1124K;ENSP00000423434:E1133K;ENSP00000421627:E1133K;ENSP00000420931:E1201K;ENSP00000425884:E1192K;ENSP00000424258:E1124K|.	ENSP00000280009:E1133K|.	E|R	+|+	1|2	0|0	LPHN3|LPHN3	62586053|62586053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.395000|9.395000	0.97266|0.97266	2.566000|2.566000	0.86566|0.86566	0.650000|0.650000	0.86243|0.86243	GAG|AGA	LPHN3	-	prints_GPCR_2_latrophilin		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62903458	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62903458	G	A	62903458	3	1	110	1	0	0	0	0	1	0	0	0	8940	943	33	1	3479	1	LPHN3	4	62903458	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5106039	62903458	128250818	86	16332										
SLC4A4	8671	genome.wustl.edu	37	chr4	72433560	72433560	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttagaatagaacttgaacctGaagacaatgattatttctgg	8	5	1	6			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:72433560G>C	ENST00000264485.5	+	0	3449				SLC4A4_ENST00000340595.3_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E1079Q|SLC4A4_ENST00000351898.6_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACTTGAACCTGAAGACAATGA	0.328																																																	0													67	60	62					4																	72433560		1559	3571	5130	SO:0001624	3_prime_UTR_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.*92G>C	4.37:g.72433560G>C			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E1079Q	ENST00000264485.5	37	c.3235	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098070	0.56183	.	.	ENSG00000080493	ENST00000425175	T	0.79141	-1.24	5.62	5.62	0.85841	.	.	.	.	.	T	0.68522	0.3010	N	0.22421	0.69	0.40867	D	0.98388	B	0.31318	0.319	B	0.28784	0.094	T	0.67063	-0.5765	9	0.42905	T	0.14	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	1079	A5JJ20	.	Q	1079	ENSP00000393557:E1079Q	ENSP00000393557:E1079Q	E	+	1	0	SLC4A4	72652424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.386000	0.97228	2.814000	0.96858	0.585000	0.79938	GAA	SLC4A4	-	NULL		0.328	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72433560	1	no_errors	ENST00000425175	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72433560	G	C	72433560	1	2	110	0	1	0	0	0	0	0	0	0	14686	1291	45	1		1	SLC4A4	4	72433560	3'UTR	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9530102	72433560	118720716	87	16333										
CDKL2	8999	genome.wustl.edu	37	chr4	76522182	76522182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taatgctgggagcaactgcaGaaagattgtgtgtaagtggg	15	4	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:76522182G>A	ENST00000429927.2	-	9	1962	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F	CDKL2_ENST00000307465.4_Missense_Mutation_p.S420F	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	420					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGCAACTGCAGAAAGATTGTG	0.418																																																	0													197	181	186					4																	76522182		2203	4300	6503	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1259C>T	4.37:g.76522182G>A	ENSP00000412365:p.Ser420Phe		B2R695	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.S420F	ENST00000429927.2	37	c.1259	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503430	0.64298	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.73047	0.83;-0.71	4.74	4.74	0.60224	.	.	.	.	.	T	0.76054	0.3934	L	0.32530	0.975	0.36788	D	0.884674	D;D	0.76494	0.998;0.999	P;D	0.69142	0.897;0.962	T	0.81760	-0.0785	9	0.87932	D	0	-21.1726	14.7442	0.69477	0.0:0.0:1.0:0.0	.	420;420	B4DH08;Q92772	.;CDKL2_HUMAN	F	420	ENSP00000412365:S420F;ENSP00000306340:S420F	ENSP00000306340:S420F	S	-	2	0	CDKL2	76741206	0.974000	0.33945	0.999000	0.59377	0.677000	0.39632	5.053000	0.64269	2.443000	0.82685	0.591000	0.81541	TCT	CDKL2	-	NULL		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	G	NM_003948		76522182	-1	no_errors	ENST00000429927	ensembl	human	known	70_37	missense	SNP	0.999	A	A	76522182	G	A	76522182	3	1	110	1	0	0	0	0	1	0	0	0	3159	942	33	1	234	1	CDKL2	4	76522182	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4088622	76522182	114632094	88	16334										
CCDC158	339965	genome.wustl.edu	37	chr4	77288626	77288626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catctgcagtttgagggcctCacattctgtctgcacatttc	8	12	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:77288626C>T	ENST00000388914.3	-	11	1803	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	551										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGAGGGCCTCACATTCTGTC	0.502																																																	0													108	103	104					4																	77288626		1968	4168	6136	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1651G>A	4.37:g.77288626C>T	ENSP00000373566:p.Glu551Lys		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E551K	ENST00000388914.3	37	c.1651	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600742	0.46423	.	.	ENSG00000163749	ENST00000388914	T	0.43688	0.94	5.95	5.95	0.96441	.	0.070562	0.52532	D	0.000071	T	0.30198	0.0757	N	0.24115	0.695	0.80722	D	1	P	0.39480	0.675	B	0.33454	0.164	T	0.04796	-1.0926	10	0.32370	T	0.25	.	18.1671	0.89732	0.0:1.0:0.0:0.0	.	551	Q5M9N0	CD158_HUMAN	K	551	ENSP00000373566:E551K	ENSP00000373566:E551K	E	-	1	0	CCDC158	77507650	0.999000	0.42202	0.971000	0.41717	0.577000	0.36160	5.167000	0.64972	2.826000	0.97356	0.563000	0.77884	GAG	CCDC158	-	superfamily_Prefoldin		0.502	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	C	NM_001042784		77288626	-1	no_errors	ENST00000388914	ensembl	human	known	70_37	missense	SNP	0.997	T	T	77288626	C	T	77288626	3	4	110	1	0	0	0	0	1	0	0	0	2795	835	29	1	1746	1	CCDC158	4	77288626	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	766444	77288626	113865650	89	16335										
C4orf21	55345	genome.wustl.edu	37	chr4	113460799	113460799	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taatctttaaggagatggttCagctgtggttcatactggtt	11	5	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:113460799C>G	ENST00000505019.1	-	28	6344	c.6219G>C	c.(6217-6219)ctG>ctC	p.L2073L	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2073						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		GGAGATGGTTCAGCTGTGGTT	0.323																																																	0													94	90	91					4																	113460799		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.6219G>C	4.37:g.113460799C>G			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L2073	ENST00000505019.1	37	c.6219		4																																																																																			C4orf21	-	NULL		0.323	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113460799	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.993	G	G	113460799	C	G	113460799	2	3	110	1	0	0	0	0	0	0	0	1	2259	813	29	1		1	C4orf21	4	113460799	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	36172173	113460799	77693477	90	16336										
GAB1	2549	genome.wustl.edu	37	chr4	144380582	144380582	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aacctttgccagaatgggaaGaattacaagccccagttaga	9	9	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:144380582G>C	ENST00000262994.4	+	7	1932	c.1630G>C	c.(1630-1632)Gaa>Caa	p.E544Q	GAB1_ENST00000262995.4_Missense_Mutation_p.E574Q|GAB1_ENST00000505913.1_Missense_Mutation_p.E441Q	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	544					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGAATGGGAAGAATTACAAGC	0.353																																																	0													149	163	158					4																	144380582		2203	4300	6503	SO:0001583	missense	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1630G>C	4.37:g.144380582G>C	ENSP00000262994:p.Glu544Gln		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E574Q	ENST00000262994.4	37	c.1720	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.409708	0.96072	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.30182	2.2;1.54;1.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.66674	-0.5864	10	0.87932	D	0	-2.6433	20.5666	0.99351	0.0:0.0:1.0:0.0	.	544;574	Q13480;Q13480-2	GAB1_HUMAN;.	Q	574;544;441	ENSP00000262995:E574Q;ENSP00000262994:E544Q;ENSP00000424554:E441Q	ENSP00000262994:E544Q	E	+	1	0	GAB1	144600032	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	9.434000	0.97515	2.854000	0.98071	0.655000	0.94253	GAA	GAB1	-	NULL		0.353	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	G	NM_002039		144380582	1	no_errors	ENST00000262995	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144380582	G	C	144380582	3	2	110	1	0	0	0	0	1	0	0	0	6166	943	33	1	1750	1	GAB1	4	144380582	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	30919783	144380582	46773694	91	16337										
GUCY1B3	2983	genome.wustl.edu	37	chr4	156711018	156711018	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gatattgtcattggaatcatCaaaacagtggcacaacaaat	7	7	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:156711018C>T	ENST00000264424.8	+	5	532	c.450C>T	c.(448-450)atC>atT	p.I150I	GUCY1B3_ENST00000513437.1_Silent_p.I82I|GUCY1B3_ENST00000507146.1_Silent_p.I82I|GUCY1B3_ENST00000503520.1_Silent_p.I150I|GUCY1B3_ENST00000502959.1_Silent_p.I172I|GUCY1B3_ENST00000505764.1_Silent_p.I130I|GUCY1B3_ENST00000505154.1_Silent_p.I82I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	150					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTGGAATCATCAAAACAGTGG	0.393																																																	0													159	151	154					4																	156711018		1942	4149	6091	SO:0001819	synonymous_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.450C>T	4.37:g.156711018C>T			B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I150	ENST00000264424.8	37	c.450	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd		0.393	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	C			156711018	1	no_errors	ENST00000264424	ensembl	human	known	70_37	silent	SNP	0.992	T	T	156711018	C	T	156711018	2	4	110	1	0	0	0	0	0	0	0	1	6915	816	29	1		1	GUCY1B3	4	156711018	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	12330436	156711018	34443258	92	16338										
GLRB	2743	genome.wustl.edu	37	chr4	158091757	158091757	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctcaggctaagaacaacaaGaagcctccccctgcgaaacc	7	15	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:158091757G>A	ENST00000264428.4	+	10	1641	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	GLRB_ENST00000509282.1_Silent_p.K457K|GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000512619.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	457					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	AGAACAACAAGAAGCCTCCCC	0.403																																																	0													116	115	115					4																	158091757		2203	4300	6503	SO:0001819	synonymous_variant	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1371G>A	4.37:g.158091757G>A			A8K3K2|D3DP23|F5GWE1	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K457	ENST00000264428.4	37	c.1371	CCDS3796.1	4																																																																																			GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.403	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	G	NM_000824		158091757	1	no_errors	ENST00000264428	ensembl	human	known	70_37	silent	SNP	1.000	A	A	158091757	G	A	158091757	2	1	110	1	0	0	0	0	0	0	0	1	6477	933	33	1		1	GLRB	4	158091757	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1380739	158091757	33062519	93	16339										
RXFP1	59350	genome.wustl.edu	37	chr4	159568311	159568311	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctcttcattcagaagatacaGaaagtattggagcccagatt	8	8	3	4	rs368105232		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:159568311G>C	ENST00000307765.5	+	16	1965	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	RXFP1_ENST00000448688.2_Missense_Mutation_p.E467Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.E539Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.E524Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.E491Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	572					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAGATACAGAAAGTATTGG	0.333																																																	0													57	54	55					4																	159568311		1810	4080	5890	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1714G>C	4.37:g.159568311G>C	ENSP00000303248:p.Glu572Gln		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.E572Q	ENST00000307765.5	37	c.1714	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318912	0.81469	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.046575	0.85682	D	0.000000	T	0.59376	0.2189	M	0.68952	2.095	0.50039	D	0.99984	P;D;P;B;P;B;P;P	0.61080	0.845;0.989;0.845;0.108;0.903;0.034;0.845;0.921	P;D;P;B;P;B;P;P	0.65140	0.723;0.932;0.609;0.185;0.761;0.056;0.799;0.846	T	0.56323	-0.7998	10	0.48119	T	0.1	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	583;599;467;524;539;491;442;572	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	Q	491;572;467;524;539;442	ENSP00000423306:E491Q;ENSP00000303248:E572Q;ENSP00000414885:E467Q;ENSP00000345889:E524Q;ENSP00000420712:E539Q	ENSP00000303248:E572Q	E	+	1	0	RXFP1	159787761	1.000000	0.71417	0.519000	0.27824	0.681000	0.39784	9.777000	0.99008	2.720000	0.93068	0.650000	0.86243	GAA	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	G	NM_021634		159568311	1	no_errors	ENST00000307765	ensembl	human	known	70_37	missense	SNP	1.000	C	C	159568311	G	C	159568311	3	2	110	1	0	0	0	0	1	0	0	0	13789	943	33	1	1776	1	RXFP1	4	159568311	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1476554	159568311	31585965	94	16340										
FNIP2	57600	genome.wustl.edu	37	chr4	159789970	159789970	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttggaagctttgcatctccaGagtctgactttgaaagccgc	10	10	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:159789970G>C	ENST00000264433.6	+	13	2257	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	FNIP2_ENST00000379346.3_Missense_Mutation_p.E751Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	728	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGCATCTCCAGAGTCTGACTT	0.557																																																	0													65	69	67					4																	159789970		1871	4104	5975	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2182G>C	4.37:g.159789970G>C	ENSP00000264433:p.Glu728Gln		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.E751Q	ENST00000264433.6	37	c.2251	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068104	0.76301	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.32023	1.48;1.47	5.51	5.51	0.81932	.	0.119623	0.56097	D	0.000035	T	0.54481	0.1861	M	0.75447	2.3	0.35699	D	0.815441	D	0.76494	0.999	D	0.70487	0.969	T	0.63386	-0.6649	9	.	.	.	.	14.6013	0.68443	0.0:0.0:0.8541:0.1459	.	728	Q9P278	FNIP2_HUMAN	Q	728;751	ENSP00000264433:E728Q;ENSP00000368651:E751Q	.	E	+	1	0	FNIP2	160009420	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	8.391000	0.90177	2.746000	0.94184	0.655000	0.94253	GAG	FNIP2	-	NULL		0.557	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	G	NM_020840		159789970	1	no_errors	ENST00000379346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	159789970	G	C	159789970	3	2	110	1	0	0	0	0	1	0	0	0	5994	943	33	1	2232	1	FNIP2	4	159789970	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	221659	159789970	31364306	95	16341										
SLC6A3	6531	genome.wustl.edu	37	chr5	1409223	1409223	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gcaaaatggtccaggagcgtGaagacgtagatgccaccctg	13	10	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:1409223G>A	ENST00000270349.9	-	11	1543	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	SLC6A3_ENST00000453492.2_Silent_p.F472F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	472					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAGGAGCGTGAAGACGTAGA	0.582																																																	0													57	49	52					5																	1409223		2201	4297	6498	SO:0001819	synonymous_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1416C>T	5.37:g.1409223G>A			A2RUN4|Q14996	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.F472	ENST00000270349.9	37	c.1416	CCDS3863.1	5																																																																																			SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	G	NM_001044		1409223	-1	no_errors	ENST00000270349	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1409223	G	A	1409223	2	1	110	1	0	0	0	0	0	0	0	1	14715	1281	45	1		1	SLC6A3	5	1409223	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		1409223	179506037	96	16342										
DNAH5	1767	genome.wustl.edu	37	chr5	13829760	13829760	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	accatcatggccactgagcgGaaattaatcttcaagttttc	7	10	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:13829760G>A	ENST00000265104.4	-	38	6407	c.6303C>T	c.(6301-6303)ttC>ttT	p.F2101F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2101	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACTGAGCGGAAATTAATCT	0.453									Kartagener syndrome																																								0													114	104	108					5																	13829760		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6303C>T	5.37:g.13829760G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F2101	ENST00000265104.4	37	c.6303	CCDS3882.1	5																																																																																			DNAH5	-	smart_AAA+_ATPase		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13829760	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13829760	G	A	13829760	2	1	110	1	0	0	0	0	0	0	0	1	4614	1165	41	1		1	DNAH5	5	13829760	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	12420537	13829760	167085500	97	16343										
PRDM9	56979	genome.wustl.edu	37	chr5	23524509	23524509	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttccagtaccacaggcagatCttctatagaacctgccgagt	8	12	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:23524509C>T	ENST00000296682.3	+	10	1199	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	339	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACAGGCAGATCTTCTATAGAA	0.542										HNSCC(3;0.000094)																																							0													65	67	67					5																	23524509		1894	4103	5997	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1017C>T	5.37:g.23524509C>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.I339	ENST00000296682.3	37	c.1017	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_SET_dom		0.542	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	C	NM_020227		23524509	1	no_errors	ENST00000296682	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23524509	C	T	23524509	2	4	110	1	0	0	0	0	0	0	0	1	12490	903	32	1		1	PRDM9	5	23524509	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	9694749	23524509	157390751	98	16344										
CDH9	1007	genome.wustl.edu	37	chr5	26885933	26885933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtaggtgctcattttgttgcGactgtagccatctttccgag	11	9	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:26885933G>A	ENST00000231021.4	-	11	1844	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTTTGTTGCGACTGTAGCCA	0.383																																					Melanoma(8;187 585 15745 40864 52829)												0													65	64	64					5																	26885933		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1672C>T	5.37:g.26885933G>A	ENSP00000231021:p.Arg558Cys		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R558C	ENST00000231021.4	37	c.1672	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447644	0.84101	.	.	ENSG00000113100	ENST00000231021	T	0.59772	0.24	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.82444	0.5038	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	D	0.86801	0.1992	9	.	.	.	.	13.5557	0.61757	0.0:0.0:0.8443:0.1557	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	C	558	ENSP00000231021:R558C	.	R	-	1	0	CDH9	26921690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.494000	0.66905	2.740000	0.93945	0.563000	0.77884	CGC	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	G	NM_016279		26885933	-1	no_errors	ENST00000231021	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26885933	G	A	26885933	3	1	110	1	0	0	0	0	1	0	0	0	3122	1058	37	1	705	1	CDH9	5	26885933	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3361424	26885933	154029327	99	16345										
CDH6	1004	genome.wustl.edu	37	chr5	31317953	31317953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggaacatgcaatcctgccatGcggaggcgctcatccacccc	10	16	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:31317953G>A	ENST00000265071.2	+	11	2069	c.1804G>A	c.(1804-1806)Gcg>Acg	p.A602T	CDH6_ENST00000514738.1_Missense_Mutation_p.A547T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	602	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCCTGCCATGCGGAGGCGCT	0.577																																																	0													61	55	57					5																	31317953		2203	4300	6503	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1804G>A	5.37:g.31317953G>A	ENSP00000265071:p.Ala602Thr		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A602T	ENST00000265071.2	37	c.1804	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154855	0.57259	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58358	0.48;0.34	5.29	5.29	0.74685	Cadherin (1);	0.105878	0.64402	D	0.000006	T	0.48943	0.1528	L	0.46567	1.45	0.58432	D	0.999997	B;P	0.38535	0.26;0.635	B;B	0.38020	0.081;0.263	T	0.40440	-0.9563	10	0.21540	T	0.41	.	19.3089	0.94177	0.0:0.0:1.0:0.0	.	602;602	P55285;P55285-2	CADH6_HUMAN;.	T	547;602	ENSP00000424843:A547T;ENSP00000265071:A602T	ENSP00000265071:A602T	A	+	1	0	CDH6	31353710	1.000000	0.71417	0.714000	0.30535	0.980000	0.70556	5.366000	0.66122	2.625000	0.88918	0.655000	0.94253	GCG	CDH6	-	pfscan_Cadherin		0.577	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	G	NM_004932		31317953	1	no_errors	ENST00000265071	ensembl	human	known	70_37	missense	SNP	0.994	A	A	31317953	G	A	31317953	3	1	110	1	0	0	0	0	1	0	0	0	3119	1319	46	4	1842	4	CDH6	5	31317953	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4432020	31317953	149597307	100	16346										
SPEF2	79925	genome.wustl.edu	37	chr5	35646907	35646907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgaaaaagaaaaaagaggcaGaagtaagtgataatccttta	9	3	0	5			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:35646907G>A	ENST00000356031.3	+	5	878	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	SPEF2_ENST00000282469.6_Missense_Mutation_p.E242K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E242K|SPEF2_ENST00000440995.2_Missense_Mutation_p.E242K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	242					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGAGGCAGAAGTAAGTGA	0.343																																																	0													49	52	51					5																	35646907		2203	4299	6502	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.724G>A	5.37:g.35646907G>A	ENSP00000348314:p.Glu242Lys		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E242K	ENST00000356031.3	37	c.724	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802372	0.70682	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.36340	2.24;3.3;2.24;1.26;3.3	5.46	5.46	0.80206	.	0.339124	0.35262	N	0.003334	T	0.42086	0.1187	L	0.52364	1.645	0.80722	D	1	P;P;P	0.45531	0.666;0.666;0.86	B;B;P	0.44561	0.194;0.194;0.453	T	0.26643	-1.0097	10	0.49607	T	0.09	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	242;242;242	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	242;242;242;185;242	ENSP00000282469:E242K;ENSP00000348314:E242K;ENSP00000421593:E242K;ENSP00000426259:E185K;ENSP00000412125:E242K	ENSP00000282469:E242K	E	+	1	0	SPEF2	35682664	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.238000	0.58688	2.736000	0.93811	0.655000	0.94253	GAA	SPEF2	-	NULL		0.343	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35646907	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35646907	G	A	35646907	3	1	110	1	0	0	0	0	1	0	0	0	15065	943	33	1	742	1	SPEF2	5	35646907	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4328954	35646907	145268353	101	16347										
C5orf39	389289	genome.wustl.edu	37	chr5	43039952	43039952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtccgttttgccagtagactCcgggcagccgccagcaaggg	14	13	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:43039952C>T	ENST00000314890.3	-	2	1616	c.197G>A	c.(196-198)gGa>gAa	p.G66E	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	66																	CCAGTAGACTCCGGGCAGCCG	0.577											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43	47	46					5																	43039952		2203	4300	6503	SO:0001583	missense	389289			BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"chromosome 5 open reading frame 39"	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.197G>A	5.37:g.43039952C>T	ENSP00000315915:p.Gly66Glu	913	Q8NHX5	Missense_Mutation	SNP	NULL	p.G66E	ENST00000314890.3	37	c.197	CCDS34153.1	5	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465522	0.26335	.	.	ENSG00000177721	ENST00000314890	T	0.31510	1.49	3.22	0.316	0.15857	.	.	.	.	.	T	0.16557	0.0398	L	0.29908	0.895	0.09310	N	1	B	0.32160	0.358	B	0.26969	0.075	T	0.19778	-1.0295	9	0.51188	T	0.08	.	1.8772	0.03220	0.1953:0.4501:0.2332:0.1213	.	66	Q3ZCQ2	AX2R_HUMAN	E	66	ENSP00000315915:G66E	ENSP00000315915:G66E	G	-	2	0	C5orf39	43075709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.507000	0.02268	0.034000	0.15491	0.655000	0.94253	GGA	ANXA2R	-	NULL		0.577	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2R	HGNC	protein_coding	OTTHUMT00000368030.1	C	NM_001014279		43039952	-1	no_errors	ENST00000314890	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43039952	C	T	43039952	3	4	110	1	0	0	0	0	1	0	0	0	2302	855	30	1	388	1	C5orf39	5	43039952	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	7393045	43039952	137875308	102	16348										
FER	2241	genome.wustl.edu	37	chr5	108168644	108168644	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atagaggcagagatgatcaaGgttcgtttttccatattgaa	10	5	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:108168644G>T	ENST00000281092.4	+	4	765	c.381G>T	c.(379-381)aaG>aaT	p.K127N	FER_ENST00000536402.1_Splice_Site_p.K127N|FER_ENST00000438717.2_Intron|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	127	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGATGATCAAGGTTCGTTTTT	0.348																																					Colon(146;1051 1799 9836 27344 47401)												0													153	137	142					5																	108168644		2202	4300	6502	SO:0001630	splice_region_variant	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.381+1G>T	5.37:g.108168644G>T			B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.K127N	ENST00000281092.4	37	c.381	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814753	0.90790	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.47869	0.83;0.83	6.11	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.69946	-0.5007	10	0.72032	D	0.01	-12.9027	15.6639	0.77209	0.0656:0.0:0.9344:0.0	.	127;127	Q6PEJ9;P16591	.;FER_HUMAN	N	127	ENSP00000281092:K127N;ENSP00000442627:K127N	ENSP00000281092:K127N	K	+	3	2	FER	108196543	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.655000	0.91098	1.596000	0.50062	0.655000	0.94253	AAG	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.348	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	G	NM_005246	Missense_Mutation	108168644	1	no_errors	ENST00000281092	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108168644	G	T	108168644	5	4	110	1	0	0	0	0	0	0	1	0	5831	1014	35	4	387	4	FER	5	108168644	Splice_Site	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	65128692	108168644	72746616	103	16349										
SNCAIP	9627	genome.wustl.edu	37	chr5	121786950	121786950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gagtgccctcaagtctccatCttccaagcgtaggacatctc	8	14	4	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:121786950C>T	ENST00000261368.8	+	10	2670	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F	SNCAIP_ENST00000379538.3_Missense_Mutation_p.S437F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S361F|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S850F|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S743F|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S850F|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S405F|CTC-210G5.1_ENST00000509993.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	803					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGTCTCCATCTTCCAAGCGT	0.527																																																	0													59	60	60					5																	121786950		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2408C>T	5.37:g.121786950C>T	ENSP00000261368:p.Ser803Phe		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S850F	ENST00000261368.8	37	c.2549	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465180	0.84425	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.30981	3.4;4.06;1.66;1.51;4.05;3.81;1.51;3.57	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;0.999;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.991;0.998;0.982;0.997;0.992;0.992;0.991	T	0.55749	-0.8092	10	0.87932	D	0	-13.9986	20.2192	0.98319	0.0:1.0:0.0:0.0	.	743;431;405;743;437;437;850;803	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	F	361;743;803;850;743;437;850;405	ENSP00000441681:S361F;ENSP00000422106:S743F;ENSP00000261368:S803F;ENSP00000368848:S850F;ENSP00000368851:S743F;ENSP00000368854:S437F;ENSP00000261367:S850F;ENSP00000394392:S405F	ENSP00000261367:S850F	S	+	2	0	SNCAIP	121814849	1.000000	0.71417	0.927000	0.36925	0.970000	0.65996	7.497000	0.81536	2.780000	0.95670	0.655000	0.94253	TCT	SNCAIP	-	NULL		0.527	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	C			121786950	1	no_errors	ENST00000379533	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121786950	C	T	121786950	3	4	110	1	0	0	0	0	1	0	0	0	14871	913	32	1	2442	1	SNCAIP	5	121786950	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	13618306	121786950	59128310	104	16350										
PCDHA3	56145	genome.wustl.edu	37	chr5	140183169	140183169	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggatgtggacgttgatctctCagccaaagtgagtaattttt	11	6	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:140183169C>T	ENST00000522353.2	+	1	2387	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S796L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	796	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGATCTCTCAGCCAAAGTG	0.413																																																	0													70	81	77					5																	140183169		2203	4300	6503	SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2387C>T	5.37:g.140183169C>T	ENSP00000429808:p.Ser796Leu		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S796L	ENST00000522353.2	37	c.2387	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	10.20	1.285224	0.23478	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.11385	2.78;2.78	4.16	4.16	0.48862	.	0.000000	0.39687	U	0.001291	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.002	T	0.36040	-0.9764	10	0.23302	T	0.38	.	12.2158	0.54406	0.0:0.8264:0.1736:0.0	.	796;796	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	796	ENSP00000429808:S796L;ENSP00000434086:S796L	ENSP00000429808:S796L	S	+	2	0	PCDHA3	140163353	0.015000	0.18098	0.040000	0.18447	0.150000	0.21749	1.178000	0.31981	2.039000	0.60335	0.467000	0.42956	TCA	PCDHA3	-	NULL		0.413	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	C	NM_018906		140183169	1	no_errors	ENST00000522353	ensembl	human	known	70_37	missense	SNP	0.033	T	T	140183169	C	T	140183169	3	4	110	1	0	0	0	0	1	0	0	0	11549	838	29	1	2389	1	PCDHA3	5	140183169	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	18396219	140183169	40732091	105	16351										
NR3C1	2908	genome.wustl.edu	37	chr5	142779831	142779831	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctccaaatcctgcaaaatgtCaaaggtgctttggtctgtgg	10	9	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:142779831C>G	ENST00000343796.2	-	2	1567	c.574G>C	c.(574-576)Gac>Cac	p.D192H	NR3C1_ENST00000504572.1_Missense_Mutation_p.D192H|NR3C1_ENST00000231509.3_Missense_Mutation_p.D192H|NR3C1_ENST00000503201.1_Missense_Mutation_p.D192H|NR3C1_ENST00000415690.2_Missense_Mutation_p.D192H|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Missense_Mutation_p.D192H|NR3C1_ENST00000394464.2_Missense_Mutation_p.D192H|NR3C1_ENST00000424646.2_Missense_Mutation_p.D192H	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	192	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TGCAAAATGTCAAAGGTGCTT	0.443																																																	0													73	74	74					5																	142779831		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.574G>C	5.37:g.142779831C>G	ENSP00000343205:p.Asp192His		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.D192H	ENST00000343796.2	37	c.574	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200746	0.79015	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.54	5.54	0.83059	.	0.365080	0.28307	N	0.015839	T	0.77343	0.4116	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80621	-0.1301	10	0.87932	D	0	.	19.4783	0.94998	0.0:1.0:0.0:0.0	.	192;192;192	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	H	192	ENSP00000377977:D192H;ENSP00000343205:D192H;ENSP00000387672:D192H;ENSP00000405282:D192H;ENSP00000422518:D192H;ENSP00000377979:D192H;ENSP00000231509:D192H;ENSP00000427672:D192H	ENSP00000231509:D192H	D	-	1	0	NR3C1	142760024	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.099000	0.64554	2.601000	0.87937	0.655000	0.94253	GAC	NR3C1	-	pfam_Glcrtcd_rcpt		0.443	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	C			142779831	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142779831	C	G	142779831	3	3	110	1	0	0	0	0	1	0	0	0	10654	826	29	1	1846	1	NR3C1	5	142779831	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2596662	142779831	38135429	106	16352										
PCYOX1L	78991	genome.wustl.edu	37	chr5	148746985	148746985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggaaggaggcaataagctgGtttgttccggtttgctgaag	15	5	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:148746985G>T	ENST00000274569.4	+	5	807	c.745G>T	c.(745-747)Gtt>Ttt	p.V249F	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.V159F	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	249					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAAGCTGGTTTGTTCCGG	0.582											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)												0													173	138	150					5																	148746985		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.745G>T	5.37:g.148746985G>T	ENSP00000274569:p.Val249Phe	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.V249F	ENST00000274569.4	37	c.745	CCDS4296.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.224193	0.95139	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.19394	2.91;2.15	5.67	5.67	0.87782	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.995	T	0.50021	-0.8876	10	0.40728	T	0.16	-19.1489	19.7824	0.96422	0.0:0.0:1.0:0.0	.	131;159;249	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	F	249;159	ENSP00000274569:V249F;ENSP00000428512:V159F	ENSP00000274569:V249F	V	+	1	0	PCYOX1L	148727178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	2.677000	0.91161	0.561000	0.74099	GTT	PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.582	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2	G	NM_024028		148746985	1	no_errors	ENST00000274569	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148746985	G	T	148746985	3	4	110	1	0	0	0	0	1	0	0	0	11633	1261	44	4	763	4	PCYOX1L	5	148746985	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5967154	148746985	32168275	107	16353										
G3BP1	10146	genome.wustl.edu	37	chr5	151175052	151175052	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcacttagagtctgaagaagAagtagaggaacctgaagaaa	11	5	2	7			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:151175052A>T	ENST00000394123.3	+	6	600	c.455A>T	c.(454-456)gAa>gTa	p.E152V	G3BP1_ENST00000543466.1_De_novo_Start_OutOfFrame|G3BP1_ENST00000356245.3_Missense_Mutation_p.E152V			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	152	Glu-rich.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCTGAAGAAGAAGTAGAGGAA	0.353																																																	0													139	148	145					5																	151175052		2203	4300	6503	SO:0001583	missense	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.455A>T	5.37:g.151175052A>T	ENSP00000377681:p.Glu152Val		Q5HYE9	Nonsense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.K122*	ENST00000394123.3	37	c.364	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633703	0.87660	.	.	ENSG00000145907	ENST00000394123;ENST00000356245;ENST00000274596	T;T	0.74315	-0.83;-0.83	4.99	4.99	0.66335	.	0.100321	0.64402	D	0.000003	T	0.81777	0.4894	M	0.62016	1.91	0.80722	D	1	D	0.63880	0.993	P	0.60949	0.881	T	0.81086	-0.1092	10	0.35671	T	0.21	-11.6796	15.002	0.71479	1.0:0.0:0.0:0.0	.	152	Q13283	G3BP1_HUMAN	V	152;152;60	ENSP00000377681:E152V;ENSP00000348578:E152V	ENSP00000274596:E60V	E	+	2	0	G3BP1	151155245	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.256000	0.78350	2.004000	0.58718	0.454000	0.30748	GAA	G3BP1	-	pfscan_Nuclear_transport_factor_2_euk		0.353	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	A	NM_005754		151175052	1	no_errors	ENST00000520177	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	151175052	A	T	151175052	3	4	110	1	0	0	0	0	1	0	0	0	6159	246	9	5	473	5	G3BP1	5	151175052	Missense_Mutation	SNP	A	TCGA-EK-A2RJ-01A-11D-A18J-09	2428067	151175052	29740208	108	16354										
SLIT3	6586	genome.wustl.edu	37	chr5	168098381	168098381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggtgggagggccttgaagtCctgcagctcgttgttgatgc	16	8	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:168098381C>T	ENST00000519560.1	-	34	4368	c.3949G>A	c.(3949-3951)Gac>Aac	p.D1317N	SLIT3_ENST00000332966.8_Missense_Mutation_p.D1324N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D1317N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1317	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTTGAAGTCCTGCAGCTCG	0.657																																					Ovarian(29;311 847 10864 17279 24903)												0													56	47	50					5																	168098381		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3949G>A	5.37:g.168098381C>T	ENSP00000430333:p.Asp1317Asn		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1317N	ENST00000519560.1	37	c.3949	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.328850	0.95733	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.71817	-0.6;-0.6;-0.6	4.86	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.74389	2.26	0.80722	D	1	D	0.60160	0.987	P	0.61940	0.896	D	0.85542	0.1216	10	0.87932	D	0	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	1317	O75094	SLIT3_HUMAN	N	1317;1324;1317	ENSP00000430333:D1317N;ENSP00000332164:D1324N;ENSP00000384890:D1317N	ENSP00000332164:D1324N	D	-	1	0	SLIT3	168030959	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.927000	0.63440	2.404000	0.81709	0.462000	0.41574	GAC	SLIT3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.657	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168098381	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168098381	C	T	168098381	3	4	110	1	0	0	0	0	1	0	0	0	14771	855	30	1	634	1	SLIT3	5	168098381	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	16923329	168098381	12816879	109	16355										
DBN1	1627	genome.wustl.edu	37	chr5	176894312	176894312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttcatttccacagctgcatCcgtcttctggtaggtggtgc	10	12	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:176894312C>G	ENST00000309007.5	-	6	718	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DBN1_ENST00000393565.1_Missense_Mutation_p.D167H|DBN1_ENST00000292385.5_Missense_Mutation_p.D169H	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	167					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCTGCATCCGTCTTCTGG	0.592																																																	0													243	257	252					5																	176894312		2203	4300	6503	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.499G>C	5.37:g.176894312C>G	ENSP00000308532:p.Asp167His		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.D169H	ENST00000309007.5	37	c.505	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583642	0.65992	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41758	0.99;0.99;0.99	5.06	5.06	0.68205	.	0.106321	0.64402	D	0.000007	T	0.53367	0.1792	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.78314	0.98;0.979;0.944;0.991	T	0.53954	-0.8365	10	0.72032	D	0.01	-25.3248	11.6798	0.51451	0.0:0.9185:0.0:0.0815	.	117;167;167;169	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	H	167;169;167;166	ENSP00000308532:D167H;ENSP00000292385:D169H;ENSP00000377195:D167H	ENSP00000292385:D169H	D	-	1	0	DBN1	176826918	0.998000	0.40836	0.187000	0.23214	0.910000	0.53928	3.591000	0.53986	2.642000	0.89623	0.561000	0.74099	GAT	DBN1	-	NULL		0.592	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	C	NM_080881		176894312	-1	no_errors	ENST00000292385	ensembl	human	known	70_37	missense	SNP	0.742	G	G	176894312	C	G	176894312	3	3	110	1	0	0	0	0	1	0	0	0	4257	855	30	1	1486	1	DBN1	5	176894312	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	8795931	176894312	4020948	110	16356										
TRIM41	90933	genome.wustl.edu	37	chr5	180657818	180657818	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aagatgaaagccaaggaggaGaggcgagtgacagaactgaa	15	5	0	6			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:180657818G>C	ENST00000315073.5	+	2	1598	c.888G>C	c.(886-888)gaG>gaC	p.E296D	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E296D	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	296					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGGAGGAGAGGCGAGTGA	0.557																																																	0													166	139	148					5																	180657818		2203	4300	6503	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.888G>C	5.37:g.180657818G>C	ENSP00000320869:p.Glu296Asp		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E296D	ENST00000315073.5	37	c.888	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	g	16.94	3.259671	0.59321	.	.	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073;ENST00000438174	T;T;T	0.58652	3.56;0.79;0.32	5.37	5.37	0.77165	.	0.107679	0.41396	D	0.000888	T	0.69079	0.3071	L	0.46741	1.465	0.32239	N	0.572985	D;D;D;D	0.76494	0.999;0.979;0.99;0.99	D;P;D;D	0.76071	0.987;0.628;0.971;0.971	T	0.73531	-0.3953	10	0.45353	T	0.12	.	14.6139	0.68534	0.0:0.0:1.0:0.0	.	6;296;296;296	D6REK2;Q8WV44;Q8WV44-2;Q8WV44-4	.;TRI41_HUMAN;.;.	D	6;296;296;6	ENSP00000426803:E6D;ENSP00000336749:E296D;ENSP00000320869:E296D	ENSP00000320869:E296D	E	+	3	2	TRIM41	180590424	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.976000	0.40579	2.506000	0.84524	0.457000	0.33378	GAG	TRIM41	-	pfam_DUF3631		0.557	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	G	NM_201627		180657818	1	no_errors	ENST00000315073	ensembl	human	known	70_37	missense	SNP	1.000	C	C	180657818	G	C	180657818	3	2	110	1	0	0	0	0	1	0	0	0	16547	933	33	1	894	1	TRIM41	5	180657818	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3763506	180657818	257442	111	16357										
ACOT13	55856	genome.wustl.edu	37	chr6	24701842	24701842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cacaaaacacctgggaaactGagagaacagcagaatgacct	9	10	0	4	rs555358026		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:24701842G>A	ENST00000230048.4	+	3	615	c.422G>A	c.(421-423)tGa>tAa	p.*141*	RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000537591.1_Silent_p.*118*	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	0					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						CTGGGAAACTGAGAGAACAGC	0.363													G|||	1	0.000199681	0	0.0014	5008	,	,		18888	0		0	False		,,,				2504	0																0													136	139	138					6																	24701842		2203	4300	6503	SO:0001819	synonymous_variant	55856			AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"Acyl CoA thioesterases"	20999	protein-coding gene	gene with protein product		615652	"thioesterase superfamily member 2"	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.422G>A	6.37:g.24701842G>A			F5H2L4|O95549	Silent	SNP	pfam_Thioestr_supf,tigrfam_PAAI_dom	p.*141	ENST00000230048.4	37	c.422	CCDS4558.1	6																																																																																			ACOT13	-	NULL		0.363	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT13	HGNC	protein_coding	OTTHUMT00000040010.2	G	NM_018473		24701842	1	no_errors	ENST00000230048	ensembl	human	known	70_37	silent	SNP	0.949	A	A	24701842	G	A	24701842	2	1	110	1	0	0	0	0	0	0	0	1	151	1285	45	1		1	ACOT13	6	24701842	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		24701842	146413225	112	16358										
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156664	26156664	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccgctgctccggcccctgccGagaagactcccgtgaagaag	12	16	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:26156664G>T	ENST00000304218.3	+	1	106	c.46G>T	c.(46-48)Gag>Tag	p.E16*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	16					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCCCCTGCCGAGAAGACTCC	0.647																																																	0													43	53	50					6																	26156664		2143	4232	6375	SO:0001587	stop_gained	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.46G>T	6.37:g.26156664G>T	ENSP00000307705:p.Glu16*		Q4VB25	Nonsense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.E16*	ENST00000304218.3	37	c.46	CCDS4586.1	6	.	.	.	.	.	.	.	.	.	.	.	14.30	2.494867	0.44352	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.63	4.76	0.60689	.	0.240129	0.30575	N	0.009339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-26.1734	8.088	0.30784	0.2368:0.0:0.7632:0.0	.	.	.	.	X	16	.	ENSP00000307705:E16X	E	+	1	0	HIST1H1E	26264643	0.995000	0.38212	0.936000	0.37596	0.013000	0.08279	2.507000	0.45442	1.522000	0.49001	-0.140000	0.14226	GAG	HIST1H1E	-	NULL		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26156664	1	no_errors	ENST00000304218	ensembl	human	known	70_37	nonsense	SNP	0.736	T	T	26156664	G	T	26156664	4	4	110	1	0	0	0	0	0	1	0	0	7146	1059	37	3	48	3	HIST1H1E	6	26156664	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1454822	26156664	144958403	113	16359										
HIST1H2BH	8345	genome.wustl.edu	37	chr6	26251947	26251947	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaggcggtgaccaaggcgcaGaagaaggatggcaagaagcg	17	7	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:26251947G>C	ENST00000356350.2	+	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q23H(1)|p.Q23Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCAAGGCGCAGAAGAAGGATG	0.552																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	NS(1)|breast(1)											125	113	117					6																	26251947		2203	4300	6503	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.69G>C	6.37:g.26251947G>C	ENSP00000348706:p.Gln23His		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.Q23H	ENST00000356350.2	37	c.69	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	9.476	1.096980	0.20552	.	.	ENSG00000197459	ENST00000356350	T	0.23950	1.88	4.68	1.76	0.24704	Histone-fold (2);	.	.	.	.	T	0.14874	0.0359	M	0.82517	2.595	0.23611	N	0.997291	B	0.21309	0.054	B	0.09377	0.004	T	0.29971	-0.9994	9	0.72032	D	0.01	.	9.2096	0.37311	0.2573:0.0:0.7427:0.0	.	23	Q93079	H2B1H_HUMAN	H	23	ENSP00000348706:Q23H	ENSP00000348706:Q23H	Q	+	3	2	HIST1H2BH	26359926	1.000000	0.71417	0.974000	0.42286	0.004000	0.04260	2.852000	0.48310	0.220000	0.20860	-0.466000	0.05196	CAG	HIST1H2BH	-	superfamily_Histone-fold		0.552	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	G	NM_003524		26251947	1	no_errors	ENST00000356350	ensembl	human	known	70_37	missense	SNP	0.998	C	C	26251947	G	C	26251947	3	2	110	1	0	0	0	0	1	0	0	0	7167	933	33	1	71	1	HIST1H2BH	6	26251947	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	95283	26251947	144863120	114	16360										
HIST1H2BH	8345	genome.wustl.edu	37	chr6	26252209	26252209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctggggaactggccaagcacGccgtgtccgagggcactaag	15	12	0	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:26252209G>A	ENST00000356350.2	+	1	331	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	111					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GGCCAAGCACGCCGTGTCCGA	0.562																																																	0													67	71	69					6																	26252209		2203	4300	6503	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.331G>A	6.37:g.26252209G>A	ENSP00000348706:p.Ala111Thr		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A111T	ENST00000356350.2	37	c.331	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	17.89	3.499513	0.64298	.	.	ENSG00000197459	ENST00000356350	T	0.36340	1.26	4.49	4.49	0.54785	Histone-fold (2);	0.000000	0.39020	U	0.001489	T	0.30823	0.0777	M	0.86420	2.815	0.43050	D	0.994658	P	0.39737	0.685	B	0.29267	0.1	T	0.51694	-0.8673	10	0.59425	D	0.04	.	17.0304	0.86459	0.0:0.0:1.0:0.0	.	111	Q93079	H2B1H_HUMAN	T	111	ENSP00000348706:A111T	ENSP00000348706:A111T	A	+	1	0	HIST1H2BH	26360188	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	9.481000	0.97933	2.427000	0.82271	0.467000	0.42956	GCC	HIST1H2BH	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.562	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	G	NM_003524		26252209	1	no_errors	ENST00000356350	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26252209	G	A	26252209	3	1	110	1	0	0	0	0	1	0	0	0	7167	1087	38	2	333	2	HIST1H2BH	6	26252209	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	262	26252209	144862858	115	16361										
ZNF391	346157	genome.wustl.edu	37	chr6	27368923	27368923	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agtaaatgtggaaaagctttCagttggatctcatcgcttac	9	7	2	0	rs141338474		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:27368923C>A	ENST00000244576.4	+	3	1319	c.774C>A	c.(772-774)ttC>ttA	p.F258L	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F258F(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAAAAGCTTTCAGTTGGATCT	0.458																																																	1	Substitution - coding silent(1)	skin(1)											64	70	68					6																	27368923		2200	4299	6499	SO:0001583	missense	346157			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.774C>A	6.37:g.27368923C>A	ENSP00000244576:p.Phe258Leu		B4DH77	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F258L	ENST00000244576.4	37	c.774	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217168	0.39201	.	.	ENSG00000124613	ENST00000244576	T	0.46063	0.88	4.0	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50429	0.1615	M	0.93062	3.375	0.21355	N	0.999718	D	0.55385	0.971	P	0.56278	0.795	T	0.41502	-0.9505	9	0.87932	D	0	.	8.3031	0.32025	0.0:0.7469:0.0:0.2531	.	258	Q9UJN7	ZN391_HUMAN	L	258	ENSP00000244576:F258L	ENSP00000244576:F258L	F	+	3	2	ZNF391	27476902	0.004000	0.15560	0.902000	0.35471	0.947000	0.59692	0.018000	0.13422	0.649000	0.30751	0.557000	0.71058	TTC	ZNF391	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	HGNC	protein_coding	OTTHUMT00000040145.2	C	NM_001076781		27368923	1	no_errors	ENST00000244576	ensembl	human	known	70_37	missense	SNP	0.110	A	A	27368923	C	A	27368923	3	1	110	1	0	0	0	0	1	0	0	0	17909	825	29	3	776	3	ZNF391	6	27368923	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1116714	27368923	143746144	116	16362										
TNF	7124	genome.wustl.edu	37	chr6	31544969	31544969	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctggccaatggcgtggagctGagagataaccagctggtggt	16	8	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:31544969G>A	ENST00000449264.2	+	4	532	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	119					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCGTGGAGCTGAGAGATAACC	0.627									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													111	92	98					6																	31544969		1511	2709	4220	SO:0001819	synonymous_variant	7124	Familial Cancer Database	incl.: Familial Head and Neck Cancer	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.357G>A	6.37:g.31544969G>A			O43647|Q9P1Q2|Q9UIV3	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c	p.L119	ENST00000449264.2	37	c.357	CCDS4702.1	6																																																																																			TNF	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c		0.627	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNF	HGNC	protein_coding	OTTHUMT00000076390.2	G			31544969	1	no_errors	ENST00000449264	ensembl	human	known	70_37	silent	SNP	0.060	A	A	31544969	G	A	31544969	2	1	110	1	0	0	0	0	0	0	0	1	16301	1277	45	1		1	TNF	6	31544969	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4176046	31544969	139570098	117	16363										
HLA-DQA1	3117	genome.wustl.edu	37	chr6	32609786	32609786	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtgttttccaagtctcccgtGacactgggtcagcccaacac	9	14	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:32609786G>A	ENST00000343139.5	+	3	471	c.369G>A	c.(367-369)gtG>gtA	p.V123V	HLA-DQA1_ENST00000395363.1_Silent_p.V123V|HLA-DQA1_ENST00000374949.2_Silent_p.V123V	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGTCTCCCGTGACACTGGGTC	0.507																																																	0													152	115	128					6																	32609786		1510	2709	4219	SO:0001819	synonymous_variant	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.369G>A	6.37:g.32609786G>A			O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.V123	ENST00000343139.5	37	c.369	CCDS4752.1	6																																																																																			HLA-DQA1	-	pfam_Ig_C1-set,pfscan_Ig-like		0.507	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	G	NM_002122		32609786	1	no_errors	ENST00000343139	ensembl	human	known	70_37	silent	SNP	0.587	A	A	32609786	G	A	32609786	2	1	110	1	0	0	0	0	0	0	0	1	7224	1277	45	1		1	HLA-DQA1	6	32609786	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1064817	32609786	138505281	118	16364										
ZBTB22	9278	genome.wustl.edu	37	chr6	33284082	33284082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggctgaagtagttgctgctGctgggagattgattctcact	14	7	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:33284082G>A	ENST00000431845.2	-	2	763	c.612C>T	c.(610-612)agC>agT	p.S204S	TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.S204S|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTTGCTGCTGCTGGGAGATT	0.627																																																	0													33	39	37					6																	33284082		2203	4300	6503	SO:0001819	synonymous_variant	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.612C>T	6.37:g.33284082G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S204	ENST00000431845.2	37	c.612	CCDS4775.1	6																																																																																			ZBTB22	-	NULL		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	G			33284082	-1	no_errors	ENST00000418724	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33284082	G	A	33284082	2	1	110	1	0	0	0	0	0	0	0	1	17560	1310	46	4		4	ZBTB22	6	33284082	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	674296	33284082	137830985	119	16365										
ITPR3	3710	genome.wustl.edu	37	chr6	33656045	33656045	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caggaccgcagcatggagcaGatcgtgttcccagtgcccgg	14	13	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:33656045G>C	ENST00000374316.5	+	49	7465	c.6405G>C	c.(6403-6405)caG>caC	p.Q2135H	ITPR3_ENST00000605930.1_Missense_Mutation_p.Q2135H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2135					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCATGGAGCAGATCGTGTTCC	0.647																																																	0													114	99	104					6																	33656045		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6405G>C	6.37:g.33656045G>C	ENSP00000363435:p.Gln2135His		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q2135H	ENST00000374316.5	37	c.6405	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.250875	0.95305	.	.	ENSG00000096433	ENST00000374316	D	0.92495	-3.05	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.986	D	0.95804	0.8835	10	0.87932	D	0	-32.7961	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2135;1805	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2135	ENSP00000363435:Q2135H	ENSP00000363435:Q2135H	Q	+	3	2	ITPR3	33764023	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.003000	0.88520	2.594000	0.87642	0.650000	0.86243	CAG	ITPR3	-	NULL		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33656045	1	no_errors	ENST00000374316	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33656045	G	C	33656045	3	2	110	1	0	0	0	0	1	0	0	0	7942	933	33	1	6595	1	ITPR3	6	33656045	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	371963	33656045	137459022	120	16366										
C6orf1	221491	genome.wustl.edu	37	chr6	34214351	34214351	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaaggaaagcctcttcccatGagtgcctgtgggtgggcggt	16	9	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:34214351G>A	ENST00000476320.1	-	5	1102	c.420C>T	c.(418-420)ctC>ctT	p.L140L	C6orf1_ENST00000335352.3_Silent_p.L120L|C6orf1_ENST00000413013.2_Silent_p.L120L|C6orf1_ENST00000394990.4_Silent_p.L140L|C6orf1_ENST00000468145.1_Silent_p.L140L|C6orf1_ENST00000481533.1_Silent_p.L140L	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	140						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		CTCTTCCCATGAGTGCCTGTG	0.622																																																	0													42	45	44					6																	34214351		2203	4300	6503	SO:0001819	synonymous_variant	221491			AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.420C>T	6.37:g.34214351G>A			A8K299	Silent	SNP	NULL	p.L140	ENST00000476320.1	37	c.420	CCDS4790.1	6																																																																																			C6orf1	-	NULL		0.622	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf1	HGNC	protein_coding	OTTHUMT00000357175.1	G	NM_178508		34214351	-1	no_errors	ENST00000394990	ensembl	human	known	70_37	silent	SNP	0.001	A	A	34214351	G	A	34214351	2	1	110	1	0	0	0	0	0	0	0	1	2321	1277	45	1		1	C6orf1	6	34214351	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	558306	34214351	136900716	121	16367										
MRPL2	51069	genome.wustl.edu	37	chr6	43027092	43027092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgccaggttcagagagcgcaGagcgcgggtcagtgcgcaca	16	12	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:43027092G>A	ENST00000388752.3	-	1	452	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	KLC4_ENST00000453940.2_5'Flank|KLC4_ENST00000458460.2_5'Flank|MRPL2_ENST00000468957.1_Silent_p.L10L|MRPL2_ENST00000487429.1_Silent_p.L10L|KLC4_ENST00000347162.5_5'Flank|KLC4_ENST00000394056.2_5'Flank|KLC4_ENST00000394058.1_5'Flank|KLC4_ENST00000479388.1_5'Flank|KLC4_ENST00000259708.3_5'Flank|MRPL2_ENST00000489623.1_Silent_p.L10L|MRPL2_ENST00000230413.5_Silent_p.L10L	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	10					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		AGAGAGCGCAGAGCGCGGGTC	0.652																																																	0													28	27	27					6																	43027092		2082	4059	6141	SO:0001819	synonymous_variant	51069			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.28C>T	6.37:g.43027092G>A			B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like	p.L10	ENST00000388752.3	37	c.28	CCDS34454.1	6																																																																																			MRPL2	-	NULL		0.652	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL2	HGNC	protein_coding	OTTHUMT00000040577.2	G			43027092	-1	no_errors	ENST00000388752	ensembl	human	known	70_37	silent	SNP	0.953	A	A	43027092	G	A	43027092	2	1	110	1	0	0	0	0	0	0	0	1	9808	933	33	1		1	MRPL2	6	43027092	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	8812741	43027092	128087975	122	16368										
TCTE1	202500	genome.wustl.edu	37	chr6	44250215	44250215	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttgtgacaagtccagctcctCgaggactgggtggtccagaa	13	10	0	2	rs146833594	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:44250215C>G	ENST00000371505.4	-	4	1050	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	310										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTCCTCGAGGACTGGG	0.572																																																	0													107	96	100					6																	44250215		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.928G>C	6.37:g.44250215C>G	ENSP00000360560:p.Glu310Gln		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E310Q	ENST00000371505.4	37	c.928	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365896	0.05069	.	.	ENSG00000146221	ENST00000371505	T	0.53423	0.62	5.37	2.46	0.29980	.	0.569355	0.20252	N	0.096041	T	0.07954	0.0199	N	0.10972	0.075	0.09310	N	1	B	0.26512	0.151	B	0.22601	0.04	T	0.19811	-1.0294	10	0.17369	T	0.5	-28.2293	3.8673	0.09021	0.1246:0.5587:0.1215:0.1952	.	310	Q5JU00	TCTE1_HUMAN	Q	310	ENSP00000360560:E310Q	ENSP00000360560:E310Q	E	-	1	0	TCTE1	44358193	0.016000	0.18221	0.859000	0.33776	0.397000	0.30659	0.446000	0.21694	1.424000	0.47217	0.455000	0.32223	GAG	TCTE1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	C	NM_182539		44250215	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	missense	SNP	0.002	G	G	44250215	C	G	44250215	3	3	110	1	0	0	0	0	1	0	0	0	15747	893	31	1	585	1	TCTE1	6	44250215	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1223123	44250215	126864852	123	16369										
C6orf138	442213	genome.wustl.edu	37	chr6	47846225	47846225	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccagtgagcagcaagcatttGaacagtgtgaaggtcaggtt	13	7	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:47846225G>C	ENST00000339488.4	-	3	2388	c.2355C>G	c.(2353-2355)ttC>ttG	p.F785L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	785						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GCAAGCATTTGAACAGTGTGA	0.443																																																	0													65	64	65					6																	47846225		2203	4300	6503	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2355C>G	6.37:g.47846225G>C	ENSP00000341914:p.Phe785Leu		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.F785L	ENST00000339488.4	37	c.2355	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964056	0.53507	.	.	ENSG00000244694	ENST00000339488	D	0.91792	-2.91	6.01	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.69823	2.125	0.80722	D	1	P	0.52170	0.951	P	0.62491	0.903	D	0.93375	0.6738	10	0.62326	D	0.03	.	12.7996	0.57578	0.1314:0.0:0.8686:0.0	.	785	Q6ZW05	CF138_HUMAN	L	785	ENSP00000341914:F785L	ENSP00000341914:F785L	F	-	3	2	C6orf138	47954184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.827000	0.48112	0.901000	0.36495	0.650000	0.86243	TTC	PTCHD4	-	pfam_Patched		0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	G	NM_001013732		47846225	-1	no_errors	ENST00000339488	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47846225	G	C	47846225	3	2	110	1	0	0	0	0	1	0	0	0	2337	1281	45	1	189	1	C6orf138	6	47846225	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3596010	47846225	123268842	124	16370										
FBXO9	26268	genome.wustl.edu	37	chr6	52935903	52935903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atactgtcagagcagatgatGatgaagaaaatgaaagtcct	10	5	1	7			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:52935903G>A	ENST00000244426.6	+	1	254	c.82G>A	c.(82-84)Gat>Aat	p.D28N	FBXO9_ENST00000323557.7_Missense_Mutation_p.D18N|FBXO9_ENST00000370939.3_De_novo_Start_OutOfFrame	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	28					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AGCAGATGATGATGAAGAAAA	0.403																																																	0													96	90	92					6																	52935903		1884	4100	5984	SO:0001583	missense	26268			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.82G>A	6.37:g.52935903G>A	ENSP00000244426:p.Asp28Asn		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D28N	ENST00000244426.6	37	c.82	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506641	0.64410	.	.	ENSG00000112146	ENST00000323557;ENST00000244426	T;T	0.79352	-1.22;-1.26	5.88	5.88	0.94601	.	0.441905	0.25222	N	0.032224	T	0.61912	0.2385	L	0.46157	1.445	0.28478	N	0.915086	B;P	0.48230	0.144;0.907	B;B	0.37780	0.04;0.258	T	0.65817	-0.6076	10	0.52906	T	0.07	-18.4842	17.7319	0.88380	0.0:0.0:1.0:0.0	.	18;135	Q9UK97-2;Q59EH8	.;.	N	18;28	ENSP00000326968:D18N;ENSP00000244426:D28N	ENSP00000244426:D28N	D	+	1	0	FBXO9	53043862	1.000000	0.71417	0.922000	0.36590	0.976000	0.68499	6.753000	0.74904	2.779000	0.95612	0.650000	0.86243	GAT	FBXO9	-	NULL		0.403	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	G			52935903	1	no_errors	ENST00000244426	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52935903	G	A	52935903	3	1	110	1	0	0	0	0	1	0	0	0	5780	1290	45	1	91	1	FBXO9	6	52935903	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5089678	52935903	118179164	125	16371										
HCRTR2	3062	genome.wustl.edu	37	chr6	55142241	55142241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgcagcctgtttcacagcctCgagggccaggacagccaacg	12	14	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:55142241C>G	ENST00000370862.3	+	5	1162	c.826C>G	c.(826-828)Cga>Gga	p.R276G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	276					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCACAGCCTCGAGGGCCAGG	0.512																																																	0													71	73	72					6																	55142241		2203	4300	6503	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.826C>G	6.37:g.55142241C>G	ENSP00000359899:p.Arg276Gly		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.R276G	ENST00000370862.3	37	c.826	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407868	0.25378	.	.	ENSG00000137252	ENST00000370862	T	0.62639	0.01	6.06	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.436436	0.24323	N	0.039522	T	0.30198	0.0757	N	0.25890	0.77	0.33482	D	0.587557	B	0.15141	0.012	B	0.17098	0.017	T	0.09185	-1.0686	10	0.20046	T	0.44	.	14.1919	0.65644	0.3897:0.6103:0.0:0.0	.	276	O43614	OX2R_HUMAN	G	276	ENSP00000359899:R276G	ENSP00000359899:R276G	R	+	1	2	HCRTR2	55250200	0.305000	0.24481	0.976000	0.42696	0.658000	0.38924	0.359000	0.20233	1.509000	0.48786	0.650000	0.86243	CGA	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	C			55142241	1	no_errors	ENST00000370862	ensembl	human	known	70_37	missense	SNP	0.799	G	G	55142241	C	G	55142241	3	3	110	1	0	0	0	0	1	0	0	0	7022	876	31	1	844	1	HCRTR2	6	55142241	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2206338	55142241	115972826	126	16372										
COL19A1	1310	genome.wustl.edu	37	chr6	70851961	70851961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggtttaataggaagcccagGactaaaggtatataagaaat	10	4	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:70851961G>T	ENST00000322773.4	+	22	1667	c.1565G>T	c.(1564-1566)gGa>gTa	p.G522V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G144V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	522	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAAGCCCAGGACTAAAGGTA	0.393																																																	0													29	30	29					6																	70851961		2203	4297	6500	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1565G>T	6.37:g.70851961G>T	ENSP00000316030:p.Gly522Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G522V	ENST00000322773.4	37	c.1565	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151104	0.57151	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.53;-5.77	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.99753	0.9901	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97175	0.9847	10	0.72032	D	0.01	.	17.6549	0.88175	0.0:0.0:1.0:0.0	.	522	Q14993	COJA1_HUMAN	V	522;144	ENSP00000316030:G522V;ENSP00000377013:G144V	ENSP00000316030:G522V	G	+	2	0	COL19A1	70908682	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.899000	0.69846	2.666000	0.90696	0.655000	0.94253	GGA	COL19A1	-	NULL		0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70851961	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70851961	G	T	70851961	3	4	110	1	0	0	0	0	1	0	0	0	3681	1174	41	3	1647	3	COL19A1	6	70851961	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	15709720	70851961	100263106	127	16373										
RIMS1	22999	genome.wustl.edu	37	chr6	72975693	72975693	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccctttcttgacagggctagGagtgctagtaccaactgctt	10	11	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:72975693G>A	ENST00000521978.1	+	22	3339	c.3339G>A	c.(3337-3339)agG>agA	p.R1113R	RIMS1_ENST00000264839.7_Silent_p.R1075R|RIMS1_ENST00000517827.1_Silent_p.R508R|RIMS1_ENST00000401910.3_Silent_p.R522R|RIMS1_ENST00000523963.1_Silent_p.R523R|RIMS1_ENST00000520567.1_Silent_p.R1048R|RIMS1_ENST00000425662.2_Silent_p.R442R|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Silent_p.R1049R|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Silent_p.R1049R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1113					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGGGCTAGGAGTGCTAGTA	0.403																																																	0													48	46	47					6																	72975693		1874	4111	5985	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3339G>A	6.37:g.72975693G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R1113	ENST00000521978.1	37	c.3339	CCDS47449.1	6																																																																																			RIMS1	-	NULL		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72975693	1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72975693	G	A	72975693	2	1	110	1	0	0	0	0	0	0	0	1	13397	1165	41	1		1	RIMS1	6	72975693	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2123732	72975693	98139374	128	16374										
TPBG	7162	genome.wustl.edu	37	chr6	83075876	83075876	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggatcacatggaagggtatCattacagatatgaaatcaat	10	5	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:83075876C>T	ENST00000369750.3	+	2	1815	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	TPBG_ENST00000535040.1_Missense_Mutation_p.H400Y|TPBG_ENST00000543496.1_Missense_Mutation_p.H400Y			Q13641	TPBG_HUMAN	trophoblast glycoprotein	400					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GGAAGGGTATCATTACAGATA	0.438																																																	0													72	74	73					6																	83075876		2203	4300	6503	SO:0001583	missense	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1198C>T	6.37:g.83075876C>T	ENSP00000358765:p.His400Tyr		A8K555	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H400Y	ENST00000369750.3	37	c.1198	CCDS4995.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292340	0.80914	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.61980	0.06;0.06;0.06	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.75648	-0.3245	10	0.87932	D	0	-10.8615	19.3907	0.94581	0.0:1.0:0.0:0.0	.	400	Q13641	TPBG_HUMAN	Y	400	ENSP00000441219:H400Y;ENSP00000358765:H400Y;ENSP00000440049:H400Y	ENSP00000358765:H400Y	H	+	1	0	TPBG	83132595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.595000	0.87683	0.650000	0.86243	CAT	TPBG	-	NULL		0.438	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPBG	HGNC	protein_coding	OTTHUMT00000041340.1	C			83075876	1	no_errors	ENST00000369750	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83075876	C	T	83075876	3	4	110	1	0	0	0	0	1	0	0	0	16425	826	29	1	1200	1	TPBG	6	83075876	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	10100183	83075876	88039191	129	16375										
MDN1	23195	genome.wustl.edu	37	chr6	90383177	90383177	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agaagagcaaacttcaaaatCtttcctgcaacagaaatgcc	6	10	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:90383177C>G	ENST00000369393.3	-	80	13367	c.13252G>C	c.(13252-13254)Gat>Cat	p.D4418H	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.D4418H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4418					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTTCAAAATCTTTCCTGCAA	0.463																																																	0													63	57	59					6																	90383177		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13252G>C	6.37:g.90383177C>G	ENSP00000358400:p.Asp4418His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4418H	ENST00000369393.3	37	c.13252	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349137	0.24426	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03386	3.95;3.95	5.65	4.74	0.60224	.	0.194155	0.43747	D	0.000540	T	0.01627	0.0052	L	0.37897	1.145	0.36267	D	0.854911	B	0.06786	0.001	B	0.09377	0.004	T	0.49082	-0.8976	10	0.29301	T	0.29	.	12.5679	0.56320	0.0:0.7984:0.1301:0.0715	.	4418	Q9NU22	MDN1_HUMAN	H	4418	ENSP00000358400:D4418H;ENSP00000413970:D4418H	ENSP00000358400:D4418H	D	-	1	0	MDN1	90439898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.668000	0.37481	2.663000	0.90544	0.655000	0.94253	GAT	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383177	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90383177	C	G	90383177	3	3	110	1	0	0	0	0	1	0	0	0	9438	913	32	1	3630	1	MDN1	6	90383177	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	7307301	90383177	80731890	130	16376										
EPHA7	2045	genome.wustl.edu	37	chr6	94068049	94068049	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttcacatctggaggagccttCtttatcagaaaaactgtgag	9	8	4	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:94068049C>T	ENST00000369303.4	-	4	1097	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	305	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GAGGAGCCTTCTTTATCAGAA	0.463																																																	0													108	100	103					6																	94068049		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.913G>A	6.37:g.94068049C>T	ENSP00000358309:p.Glu305Lys		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E305K	ENST00000369303.4	37	c.913	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416017	0.83449	.	.	ENSG00000135333	ENST00000369303	T	0.29397	1.57	5.62	5.62	0.85841	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.054136	0.64402	D	0.000001	T	0.28896	0.0717	M	0.79475	2.455	0.80722	D	1	P;P;P	0.47762	0.762;0.9;0.837	B;B;B	0.39379	0.298;0.167;0.272	T	0.29274	-1.0017	10	0.49607	T	0.09	.	19.6473	0.95784	0.0:1.0:0.0:0.0	.	305;305;305	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	305	ENSP00000358309:E305K	ENSP00000358309:E305K	E	-	1	0	EPHA7	94124770	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.792000	0.85828	2.652000	0.90054	0.655000	0.94253	GAA	EPHA7	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt		0.463	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	C			94068049	-1	no_errors	ENST00000369303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94068049	C	T	94068049	3	4	110	1	0	0	0	0	1	0	0	0	5184	922	32	1	2139	1	EPHA7	6	94068049	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3684872	94068049	77047018	131	16377										
BEND3	57673	genome.wustl.edu	37	chr6	107419825	107419825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catcgctgaccagctgctttCgtttgctggagtcctgcagg	12	12	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:107419825C>T	ENST00000369042.1	-	3	360	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	BEND3_ENST00000429433.2_Missense_Mutation_p.R57Q			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	57										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGCTGCTTTCGTTTGCTGGA	0.597																																																	0													83	78	80					6																	107419825		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.170G>A	6.37:g.107419825C>T	ENSP00000358038:p.Arg57Gln		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.R57Q	ENST00000369042.1	37	c.170	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.559727	0.96514	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000041	T	0.51787	0.1695	L	0.27053	0.805	0.32840	D	0.505225	D	0.69078	0.997	D	0.67725	0.953	T	0.58205	-0.7677	9	0.87932	D	0	26.3778	16.9212	0.86165	0.0:1.0:0.0:0.0	.	57	Q5T5X7	BEND3_HUMAN	Q	57	.	ENSP00000358038:R57Q	R	-	2	0	BEND3	107526518	0.975000	0.34042	0.942000	0.38095	0.886000	0.51366	2.983000	0.49345	2.776000	0.95493	0.655000	0.94253	CGA	BEND3	-	NULL		0.597	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107419825	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	0.993	T	T	107419825	C	T	107419825	3	4	110	1	0	0	0	0	1	0	0	0	1400	884	31	1	2324	1	BEND3	6	107419825	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	13351776	107419825	63695242	132	16378										
SEC63	11231	genome.wustl.edu	37	chr6	108204293	108204293	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atctctattggtttcttcttCttcagaatcactgcccttat	4	11	6	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:108204293C>G	ENST00000369002.4	-	17	1911	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	578					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GTTTCTTCTTCTTCAGAATCA	0.383																																																	0													152	134	140					6																	108204293		2203	4300	6503	SO:0001583	missense	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1732G>C	6.37:g.108204293C>G	ENSP00000357998:p.Glu578Gln		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.E578Q	ENST00000369002.4	37	c.1732	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591300	0.66219	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.70282	-0.47	5.15	5.15	0.70609	Sec63 domain (2);	0.088417	0.85682	D	0.000000	T	0.52805	0.1757	L	0.52573	1.65	0.80722	D	1	B;P	0.38395	0.059;0.629	B;B	0.32465	0.023;0.146	T	0.56456	-0.7976	10	0.26408	T	0.33	-14.1671	18.9898	0.92786	0.0:1.0:0.0:0.0	.	578;578	Q9UGP8;B3KQF0	SEC63_HUMAN;.	Q	578;229	ENSP00000357998:E578Q	ENSP00000357998:E578Q	E	-	1	0	SEC63	108310986	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.110000	0.77069	2.555000	0.86185	0.650000	0.86243	GAA	SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom		0.383	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	C	NM_007214		108204293	-1	no_errors	ENST00000369002	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108204293	C	G	108204293	3	3	110	1	0	0	0	0	1	0	0	0	14035	922	32	1	570	1	SEC63	6	108204293	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	784468	108204293	62910774	133	16379										
SAMD3	154075	genome.wustl.edu	37	chr6	130505720	130505720	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctggtaaaacataggacttCgtccactgtaatgctttgct	8	9	1	0	rs377087757		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:130505720C>T	ENST00000368134.2	-	8	1040	c.432G>A	c.(430-432)acG>acA	p.T144T	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Silent_p.T144T|SAMD3_ENST00000437477.2_Silent_p.T144T|SAMD3_ENST00000457563.2_Silent_p.T168T|SAMD3_ENST00000439090.2_Silent_p.T144T|SAMD3_ENST00000532763.1_Silent_p.T142T	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	144										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATAGGACTTCGTCCACTGTA	0.373																																																	0													114	103	107					6																	130505720		2203	4300	6503	SO:0001819	synonymous_variant	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.432G>A	6.37:g.130505720C>T			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T144	ENST00000368134.2	37	c.432	CCDS34539.1	6																																																																																			SAMD3	-	NULL		0.373	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	C	NM_152552		130505720	-1	no_errors	ENST00000368134	ensembl	human	known	70_37	silent	SNP	0.176	T	T	130505720	C	T	130505720	2	4	110	1	0	0	0	0	0	0	0	1	13850	871	31	1		1	SAMD3	6	130505720	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	22301427	130505720	40609347	134	16380										
MED23	9439	genome.wustl.edu	37	chr6	131917763	131917763	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tttctaaaatcgtttggtttGagtaacagcaactgaattat	7	5	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:131917763G>C	ENST00000368068.3	-	21	2852	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	MED23_ENST00000354577.4_Silent_p.L897L|MED23_ENST00000368058.1_Silent_p.L897L|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000403834.3_Silent_p.L897L|MED23_ENST00000368060.3_Silent_p.L891L|MED23_ENST00000545957.1_Silent_p.L532L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	891					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CGTTTGGTTTGAGTAACAGCA	0.373																																																	0													119	118	118					6																	131917763		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2673C>G	6.37:g.131917763G>C			B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.L897	ENST00000368068.3	37	c.2691	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23		0.373	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131917763	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	silent	SNP	0.989	C	C	131917763	G	C	131917763	2	2	110	1	0	0	0	0	0	0	0	1	9464	1277	45	1		1	MED23	6	131917763	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1412043	131917763	39197304	135	16381										
STX11	8676	genome.wustl.edu	37	chr6	144507888	144507888	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcgagacggaccacatcctgGagtccctgtaccgagacatc	10	14	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:144507888G>C	ENST00000367568.4	+	2	307	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	42					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCACATCCTGGAGTCCCTGTA	0.582									Familial Hemophagocytic Lymphohistiocytosis																																								0													54	48	50					6																	144507888		2203	4300	6503	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.124G>C	6.37:g.144507888G>C	ENSP00000356540:p.Glu42Gln		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E42Q	ENST00000367568.4	37	c.124	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034510	0.75617	.	.	ENSG00000135604	ENST00000367568	T	0.22945	1.93	5.85	4.06	0.47325	t-SNARE (1);Syntaxin, N-terminal (1);	0.152576	0.56097	N	0.000021	T	0.34832	0.0911	M	0.83953	2.67	0.43485	D	0.995714	P	0.42871	0.792	P	0.50537	0.643	T	0.39313	-0.9620	10	0.66056	D	0.02	-25.3192	16.4053	0.83662	0.0:0.2483:0.7517:0.0	.	42	O75558	STX11_HUMAN	Q	42	ENSP00000356540:E42Q	ENSP00000356540:E42Q	E	+	1	0	STX11	144549581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.784000	0.55416	0.791000	0.33826	0.561000	0.74099	GAG	STX11	-	superfamily_t-SNARE,smart_Syntaxin_N		0.582	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	G			144507888	1	no_errors	ENST00000367568	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144507888	G	C	144507888	3	2	110	1	0	0	0	0	1	0	0	0	15367	1175	41	1	126	1	STX11	6	144507888	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	12590125	144507888	26607179	136	16382										
MTHFD1L	25902	genome.wustl.edu	37	chr6	151286115	151286115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctcctgtagggggtgacagGtgctttgacagttttgatga	14	6	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:151286115G>A	ENST00000367321.3	+	19	2229	c.1955G>A	c.(1954-1956)gGt>gAt	p.G652D		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	652	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGGGTGACAGGTGCTTTGACA	0.418																																																	0													148	137	141					6																	151286115		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1955G>A	6.37:g.151286115G>A	ENSP00000356290:p.Gly652Asp		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.G652D	ENST00000367321.3	37	c.1955	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004312	0.93287	.	.	ENSG00000120254	ENST00000367321	T	0.52057	0.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.90483	3.12	0.80722	D	1	D;P;D	0.89917	1.0;0.949;1.0	D;D;D	0.85130	0.997;0.923;0.996	T	0.77310	-0.2635	10	0.87932	D	0	.	19.1058	0.93294	0.0:0.0:1.0:0.0	.	653;407;652	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	D	652	ENSP00000356290:G652D	ENSP00000356290:G652D	G	+	2	0	MTHFD1L	151327808	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.022000	0.93678	2.822000	0.97130	0.650000	0.86243	GGT	MTHFD1L	-	pfam_Formate_THF_ligase		0.418	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	G	NM_015440		151286115	1	no_errors	ENST00000367321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151286115	G	A	151286115	3	1	110	1	0	0	0	0	1	0	0	0	9951	1261	44	4	2029	4	MTHFD1L	6	151286115	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6778227	151286115	19828952	137	16383										
SYNE1	23345	genome.wustl.edu	37	chr6	152615141	152615141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gctgcaaatcacccagtttgGcagtagcggatggctccaat	11	11	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:152615141G>T	ENST00000367255.5	-	94	18405	c.17804C>A	c.(17803-17805)gCc>gAc	p.A5935D	SYNE1_ENST00000423061.1_Missense_Mutation_p.A5864D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5547D|SYNE1_ENST00000356820.4_Missense_Mutation_p.A459D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5935D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5864D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5935					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCCAGTTTGGCAGTAGCGGA	0.498										HNSCC(10;0.0054)																																							0													97	93	94					6																	152615141		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17804C>A	6.37:g.152615141G>T	ENSP00000356224:p.Ala5935Asp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A5935D	ENST00000367255.5	37	c.17804	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725098	0.89298	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000229	T	0.49508	0.1561	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.979;0.999;0.999;0.999	P;D;D;D	0.72625	0.802;0.952;0.952;0.978	T	0.51268	-0.8727	10	0.49607	T	0.09	.	17.5409	0.87848	0.0:0.0:1.0:0.0	.	350;5935;5935;5864	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	5935;5864;5935;5864;5547;459;110;157	ENSP00000356224:A5935D;ENSP00000396024:A5864D;ENSP00000265368:A5935D;ENSP00000390975:A5864D;ENSP00000341887:A5547D;ENSP00000349276:A459D;ENSP00000437411:A110D	ENSP00000265368:A5935D	A	-	2	0	SYNE1	152656834	1.000000	0.71417	0.930000	0.37139	0.968000	0.65278	9.420000	0.97426	2.188000	0.69820	0.655000	0.94253	GCC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152615141	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152615141	G	T	152615141	3	4	110	1	0	0	0	0	1	0	0	0	15475	1203	42	4	8874	4	SYNE1	6	152615141	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1329026	152615141	18499926	138	16384										
MLLT4	4301	genome.wustl.edu	37	chr6	168273011	168273011	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agagagaaaaagaggcattgCgacaggcatctgataaagat	12	5	1	5			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:168273011C>T	ENST00000447894.2	+	4	532	c.532C>T	c.(532-534)Cga>Tga	p.R178*	MLLT4_ENST00000344191.4_Nonsense_Mutation_p.R178*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.R178*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.R177*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.R177*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.R178*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.R178*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	178					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		agagGCATTGCGACAGGCATC	0.393			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													101	105	104					6																	168273011		2203	4299	6502	SO:0001587	stop_gained	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.532C>T	6.37:g.168273011C>T	ENSP00000404595:p.Arg178*		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.R178*	ENST00000447894.2	37	c.532		6	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591931	0.46214	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	.	.	.	5.51	-0.575	0.11734	.	0.148295	0.45867	D	0.000340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-8.3041	16.244	0.82431	0.3631:0.6369:0.0:0.0	.	.	.	.	X	178;178;178;178;178;177;178;179;177;178	.	ENSP00000345834:R178X	R	+	1	2	MLLT4	168015860	0.972000	0.33761	0.770000	0.31555	0.115000	0.19883	1.079000	0.30766	0.090000	0.17273	0.467000	0.42956	CGA	MLLT4	-	NULL		0.393	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168273011	1	no_errors	ENST00000366806	ensembl	human	known	70_37	nonsense	SNP	0.796	T	T	168273011	C	T	168273011	4	4	110	1	0	0	0	0	0	1	0	0	9652	760	27	2	546	2	MLLT4	6	168273011	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	15657870	168273011	2842056	139	16385										
SMOC2	64094	genome.wustl.edu	37	chr6	169051402	169051402	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atgagtttctgaccagcgttCtggacgcgctgtccacggac	12	12	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:169051402C>G	ENST00000356284.2	+	10	1169	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	SMOC2_ENST00000354536.5_Missense_Mutation_p.L328V	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	317					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GACCAGCGTTCTGGACGCGCT	0.527																																																	0													69	57	61					6																	169051402		2203	4300	6503	SO:0001583	missense	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.949C>G	6.37:g.169051402C>G	ENSP00000348630:p.Leu317Val		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.L328V	ENST00000356284.2	37	c.982	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254582	0.22965	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.38077	1.18;1.16	4.11	2.3	0.28687	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000045	T	0.26340	0.0643	L	0.36672	1.1	0.22666	N	0.998879	P;D	0.76494	0.793;0.999	P;D	0.79784	0.705;0.993	T	0.06752	-1.0809	10	0.37606	T	0.19	-5.4836	6.4087	0.21678	0.0:0.5769:0.0:0.4231	.	317;328	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	V	317;328;317	ENSP00000348630:L317V;ENSP00000346537:L328V	ENSP00000346537:L328V	L	+	1	2	SMOC2	168793327	0.026000	0.19158	0.355000	0.25773	0.074000	0.17049	0.242000	0.18087	0.317000	0.23160	0.455000	0.32223	CTG	SMOC2	-	pfam_SPARC/Testican_Ca-bd-dom		0.527	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	C			169051402	1	no_errors	ENST00000354536	ensembl	human	known	70_37	missense	SNP	0.382	G	G	169051402	C	G	169051402	3	3	110	1	0	0	0	0	1	0	0	0	14832	912	32	1	1020	1	SMOC2	6	169051402	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	778391	169051402	2063665	140	16386										
TNRC18	84629	genome.wustl.edu	37	chr7	5399153	5399153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgtgtctctttcttatccctGctcccagctcataatcatct	4	14	5	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:5399153G>A	ENST00000430969.1	-	15	5057	c.4709C>T	c.(4708-4710)gCa>gTa	p.A1570V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A1570V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1570							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTTATCCCTGCTCCCAGCTC	0.557																																																	0													179	177	177					7																	5399153		2053	4215	6268	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4709C>T	7.37:g.5399153G>A	ENSP00000395538:p.Ala1570Val		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A1570V	ENST00000430969.1	37	c.4709	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	21.5	4.159731	0.78226	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.45668	2.7;2.7;0.89	5.53	4.57	0.56435	.	0.165528	0.29046	N	0.013301	T	0.39784	0.1091	M	0.65975	2.015	0.30063	N	0.810746	B	0.31680	0.335	B	0.30401	0.115	T	0.44174	-0.9345	10	0.40728	T	0.16	.	10.5729	0.45211	0.0:0.0:0.6719:0.3281	.	1570	O15417	TNC18_HUMAN	V	1570;1570;625;60	ENSP00000382452:A1570V;ENSP00000395538:A1570V;ENSP00000395990:A60V	ENSP00000382452:A1570V	A	-	2	0	TNRC18	5365679	0.981000	0.34729	0.994000	0.49952	0.803000	0.45373	1.958000	0.40402	2.596000	0.87737	0.561000	0.74099	GCA	TNRC18	-	NULL		0.557	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		G			5399153	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.997	A	A	5399153	G	A	5399153	3	1	110	1	0	0	0	0	1	0	0	0	16369	1319	46	4	4261	4	TNRC18	7	5399153	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		5399153	153739510	141	16387										
THSD7A	221981	genome.wustl.edu	37	chr7	11582675	11582675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttcacattcagttggacaaGgaatgtggcacagctgtgta	11	8	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:11582675G>A	ENST00000423059.4	-	5	1774	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	508	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGTTGGACAAGGAATGTGGCA	0.398										HNSCC(18;0.044)																																							0													138	133	135					7																	11582675		1912	4120	6032	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1523C>T	7.37:g.11582675G>A	ENSP00000406482:p.Pro508Leu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.P508L	ENST00000423059.4	37	c.1523	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242025	0.58995	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60920	0.15	5.78	5.78	0.91487	.	0.188660	0.56097	D	0.000025	T	0.61714	0.2369	M	0.67517	2.055	0.80722	D	1	B	0.34161	0.439	B	0.34873	0.191	T	0.63422	-0.6641	10	0.62326	D	0.03	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	508	Q9UPZ6	THS7A_HUMAN	L	508	ENSP00000406482:P508L	ENSP00000262042:P508L	P	-	2	0	THSD7A	11549200	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.538000	0.53597	2.894000	0.99253	0.591000	0.81541	CCT	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.398	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11582675	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11582675	G	A	11582675	3	1	110	1	0	0	0	0	1	0	0	0	15909	1000	35	4	3542	4	THSD7A	7	11582675	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6183522	11582675	147555988	142	16388										
BBS9	27241	genome.wustl.edu	37	chr7	33313525	33313525	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgacactgaagtgggccaccCaacttccccacattcctgta	7	15	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:33313525C>G	ENST00000242067.6	+	9	1494	c.973C>G	c.(973-975)Caa>Gaa	p.Q325E	BBS9_ENST00000354265.4_Missense_Mutation_p.Q325E|BBS9_ENST00000396127.2_Missense_Mutation_p.Q325E|BBS9_ENST00000355070.2_Missense_Mutation_p.Q325E|BBS9_ENST00000350941.3_Missense_Mutation_p.Q325E|BBS9_ENST00000425508.2_Missense_Mutation_p.Q280E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	325					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGGGCCACCCAACTTCCCCA	0.348									Bardet-Biedl syndrome																																								0													76	72	73					7																	33313525		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.973C>G	7.37:g.33313525C>G	ENSP00000242067:p.Gln325Glu		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.Q325E	ENST00000242067.6	37	c.973	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779833	0.90195	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000537775	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.72894	2.215	0.58432	D	0.999994	P;P;P;P;D	0.58970	0.954;0.941;0.941;0.941;0.984	P;P;P;P;P	0.60609	0.672;0.853;0.853;0.853;0.877	D	0.86332	0.1699	10	0.24483	T	0.36	-13.2306	19.5492	0.95311	0.0:1.0:0.0:0.0	.	325;325;325;325;325	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	E	325;325;325;325;325;325;325;280;203	ENSP00000242067:Q325E;ENSP00000313122:Q325E;ENSP00000379433:Q325E;ENSP00000347182:Q325E;ENSP00000346214:Q325E;ENSP00000405151:Q280E	ENSP00000242067:Q325E	Q	+	1	0	BBS9	33280050	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	7.078000	0.76821	2.636000	0.89361	0.484000	0.47621	CAA	BBS9	-	NULL		0.348	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	C			33313525	1	no_errors	ENST00000242067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33313525	C	G	33313525	3	3	110	1	0	0	0	0	1	0	0	0	1343	595	21	4	1003	4	BBS9	7	33313525	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	21730850	33313525	125825138	143	16389										
URGCP	55665	genome.wustl.edu	37	chr7	43917456	43917456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atggccgttctgctgcattcGaagttctagcagccgccgcc	11	14	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:43917456G>C	ENST00000453200.1	-	6	2099	c.1606C>G	c.(1606-1608)Cga>Gga	p.R536G	URGCP_ENST00000402306.3_Missense_Mutation_p.R527G|URGCP_ENST00000447717.3_Missense_Mutation_p.R493G|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.R493G|URGCP_ENST00000443736.1_Missense_Mutation_p.R493G|URGCP_ENST00000336086.6_Missense_Mutation_p.R493G			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	536					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTGCATTCGAAGTTCTAGC	0.612																																																	0													42	47	45					7																	43917456		2014	4164	6178	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1606C>G	7.37:g.43917456G>C	ENSP00000396918:p.Arg536Gly		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.R536G	ENST00000453200.1	37	c.1606	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978361	0.34942	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.15603	2.45;2.45;2.42;2.45;2.41;2.45	5.69	2.48	0.30137	.	0.409870	0.23731	N	0.045124	T	0.42223	0.1193	M	0.81112	2.525	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.34403	-0.9830	10	0.72032	D	0.01	-23.3607	14.0488	0.64722	0.0:0.0:0.605:0.395	.	527;536	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	G	493;493;527;493;536;493	ENSP00000223341:R493G;ENSP00000336872:R493G;ENSP00000384955:R527G;ENSP00000392136:R493G;ENSP00000396918:R536G;ENSP00000402803:R493G	ENSP00000223341:R493G	R	-	1	2	URGCP	43883981	0.904000	0.30761	0.112000	0.21494	0.743000	0.42351	2.872000	0.48467	0.707000	0.31934	-0.181000	0.13052	CGA	URGCP	-	NULL		0.612	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	G	NM_001077664		43917456	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	missense	SNP	0.027	C	C	43917456	G	C	43917456	3	2	110	1	0	0	0	0	1	0	0	0	17057	1066	37	1	1193	1	URGCP	7	43917456	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	10603931	43917456	115221207	144	16390										
MAGI2	9863	genome.wustl.edu	37	chr7	77789588	77789588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cccgttctctgggcagggctCccctgcaaaatataccacac	8	16	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:77789588C>G	ENST00000354212.4	-	16	2852	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.E867Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.E853Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	867					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGCAGGGCTCCCCTGCAAAA	0.502																																																	0													91	90	90					7																	77789588		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2599G>C	7.37:g.77789588C>G	ENSP00000346151:p.Glu867Gln		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E867Q	ENST00000354212.4	37	c.2599	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431512	0.62844	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.87;2.86;2.75	5.51	5.51	0.81932	.	0.000000	0.36854	U	0.002372	T	0.10380	0.0254	L	0.40543	1.245	0.80722	D	1	B;P;P	0.41848	0.376;0.763;0.651	B;B;B	0.33521	0.154;0.165;0.116	T	0.20306	-1.0279	10	0.23302	T	0.38	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	867;853;867	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Q	853;867;867;867	ENSP00000405766:E853Q;ENSP00000346151:E867Q;ENSP00000428389:E867Q	ENSP00000346151:E867Q	E	-	1	0	MAGI2	77627524	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	GAG	MAGI2	-	NULL		0.502	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	C	NM_012301		77789588	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77789588	C	G	77789588	3	3	110	1	0	0	0	0	1	0	0	0	9214	864	30	1	1796	1	MAGI2	7	77789588	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	33872132	77789588	81349075	145	16391										
ABCB4	5244	genome.wustl.edu	37	chr7	87041264	87041264	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aatgagatatgcaccaaatcGaaaacaaccggcataggaaa	8	8	0	1	rs121918440		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:87041264G>A	ENST00000265723.4	-	23	2980	c.2869C>T	c.(2869-2871)Cga>Tga	p.R957*	ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R957*|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R957*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	957	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCACCAAATCGAAAACAACCG	0.328																																																	0			GRCh37	CM981521	ABCB4	M	rs121918440						66	63	64					7																	87041264		2203	4300	6503	SO:0001587	stop_gained	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2869C>T	7.37:g.87041264G>A	ENSP00000265723:p.Arg957*		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R957*	ENST00000265723.4	37	c.2869	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.377929	0.98784	.	.	ENSG00000005471	ENST00000359206;ENST00000265723;ENST00000545634	.	.	.	5.48	3.69	0.42338	.	0.065482	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6955	5.8311	0.18581	0.2123:0.0:0.6526:0.1351	.	.	.	.	X	957	.	ENSP00000265723:R957X	R	-	1	2	ABCB4	86879200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.800000	0.47900	0.698000	0.31739	0.655000	0.94253	CGA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.328	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	G	NM_000443		87041264	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	87041264	G	A	87041264	4	1	110	1	0	0	0	0	0	1	0	0	43	1066	37	1	1015	1	ABCB4	7	87041264	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9251676	87041264	72097399	146	16392										
ATXN7L1	222255	genome.wustl.edu	37	chr7	105254455	105254455	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gttcttacgcttttttccttCtgatttgtcaaaagagaggg	9	7	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:105254455C>T	ENST00000419735.3	-	10	2371	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	ATXN7L1_ENST00000388807.4_Missense_Mutation_p.E436K|ATXN7L1_ENST00000477775.1_Missense_Mutation_p.E652K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	776	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						TTTTTTCCTTCTGATTTGTCA	0.502																																																	0													78	69	72					7																	105254455		692	1591	2283	SO:0001583	missense	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2326G>A	7.37:g.105254455C>T	ENSP00000410759:p.Glu776Lys		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	pfam_SCA7_dom	p.E776K	ENST00000419735.3	37	c.2326	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270051	0.80469	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000484475;ENST00000388807;ENST00000472195	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.61703	1.905	0.46336	D	0.998991	D;P;P	0.56521	0.976;0.933;0.759	P;P;B	0.45753	0.492;0.461;0.202	T	0.54977	-0.8212	10	0.59425	D	0.04	.	19.2039	0.93722	0.0:1.0:0.0:0.0	.	662;652;776	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	K	776;652;477;436;652	ENSP00000410759:E776K;ENSP00000418476:E652K;ENSP00000418900:E477K;ENSP00000373459:E436K;ENSP00000419566:E652K	ENSP00000373459:E436K	E	-	1	0	ATXN7L1	105041691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.501000	0.73691	2.523000	0.85059	0.655000	0.94253	GAA	ATXN7L1	-	NULL		0.502	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	C			105254455	-1	no_errors	ENST00000419735	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105254455	C	T	105254455	3	4	110	1	0	0	0	0	1	0	0	0	1217	922	32	1	274	1	ATXN7L1	7	105254455	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	18213191	105254455	53884208	147	16393										
ATXN7L1	222255	genome.wustl.edu	37	chr7	105305653	105305653	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgagacaggcttttgttttCacctgtactagtgatgtcct	9	9	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:105305653C>T	ENST00000419735.3	-	4	483	c.438G>A	c.(436-438)gtG>gtA	p.V146V	ATXN7L1_ENST00000472910.1_5'UTR|ATXN7L1_ENST00000477775.1_Silent_p.V22V	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	146										endometrium(1)|large_intestine(4)|lung(5)	10						CTTTTGTTTTCACCTGTACTA	0.507																																																	0													226	189	200					7																	105305653		692	1591	2283	SO:0001819	synonymous_variant	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.438G>A	7.37:g.105305653C>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	pfam_SCA7_dom	p.V146	ENST00000419735.3	37	c.438	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL		0.507	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	C			105305653	-1	no_errors	ENST00000419735	ensembl	human	known	70_37	silent	SNP	1.000	T	T	105305653	C	T	105305653	2	4	110	1	0	0	0	0	0	0	0	1	1217	813	29	1		1	ATXN7L1	7	105305653	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	51198	105305653	53833010	148	16394										
SLC26A3	1811	genome.wustl.edu	37	chr7	107431506	107431506	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgctcacctggatgattccaGaaagcactgtgactgatgcc	10	11	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:107431506G>C	ENST00000340010.5	-	5	741	c.557C>G	c.(556-558)tCt>tGt	p.S186C	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S151C	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	186					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATGATTCCAGAAAGCACTGT	0.488																																																	0													71	61	64					7																	107431506		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.557C>G	7.37:g.107431506G>C	ENSP00000345873:p.Ser186Cys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S186C	ENST00000340010.5	37	c.557	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136460	0.37728	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93859	-3.28;-3.3	5.69	3.83	0.44106	.	0.673209	0.15187	N	0.275758	D	0.94440	0.8211	L	0.46157	1.445	0.31216	N	0.698015	D;P	0.57571	0.98;0.944	P;B	0.58820	0.846;0.401	D	0.92301	0.5849	10	0.44086	T	0.13	.	16.065	0.80865	0.0:0.2538:0.7462:0.0	.	151;186	G5E9U3;P40879	.;S26A3_HUMAN	C	151;186	ENSP00000415817:S151C;ENSP00000345873:S186C	ENSP00000345873:S186C	S	-	2	0	SLC26A3	107218742	1.000000	0.71417	0.978000	0.43139	0.056000	0.15407	5.233000	0.65337	0.713000	0.32060	0.591000	0.81541	TCT	SLC26A3	-	tigrfam_SulP_transpt		0.488	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	G	NM_000111		107431506	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.982	C	C	107431506	G	C	107431506	3	2	110	1	0	0	0	0	1	0	0	0	14548	942	33	1	1805	1	SLC26A3	7	107431506	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2125853	107431506	51707157	149	16395										
SLC26A3	1811	genome.wustl.edu	37	chr7	107431638	107431638	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgcttttgaaactgctcctGaaactgctagtcccaccatc	6	14	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:107431638G>A	ENST00000340010.5	-	5	609	c.425C>T	c.(424-426)tCa>tTa	p.S142L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S107L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	142					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AACTGCTCCTGAAACTGCTAG	0.448																																																	0													195	171	179					7																	107431638		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.425C>T	7.37:g.107431638G>A	ENSP00000345873:p.Ser142Leu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S142L	ENST00000340010.5	37	c.425	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	7.142	0.582048	0.13749	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93547	-3.23;-3.24	3.51	-7.02	0.01589	.	0.172647	0.50627	D	0.000115	T	0.79137	0.4395	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.66674	-0.5864	10	0.22109	T	0.4	.	9.3199	0.37957	0.3626:0.0:0.5314:0.106	.	107;142	G5E9U3;P40879	.;S26A3_HUMAN	L	107;142	ENSP00000415817:S107L;ENSP00000345873:S142L	ENSP00000345873:S142L	S	-	2	0	SLC26A3	107218874	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.400000	0.07241	-1.643000	0.01519	-1.842000	0.00583	TCA	SLC26A3	-	tigrfam_SulP_transpt		0.448	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	G	NM_000111		107431638	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.000	A	A	107431638	G	A	107431638	3	1	110	1	0	0	0	0	1	0	0	0	14548	1294	45	1	1937	1	SLC26A3	7	107431638	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	132	107431638	51707025	150	16396										
CTTNBP2	83992	genome.wustl.edu	37	chr7	117451012	117451012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttagattaaatctcccatacCgttcctggataaatacctcc	4	12	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:117451012C>A	ENST00000160373.3	-	3	312	c.221G>T	c.(220-222)cGg>cTg	p.R74L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	74					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTCCCATACCGTTCCTGGAT	0.408																																																	0													74	73	73					7																	117451012		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.221G>T	7.37:g.117451012C>A	ENSP00000160373:p.Arg74Leu		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R74L	ENST00000160373.3	37	c.221	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.366385	0.95900	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.62	5.62	0.85841	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74025	-0.3797	10	0.87932	D	0	0.4546	20.024	0.97514	0.0:1.0:0.0:0.0	.	74	Q8WZ74	CTTB2_HUMAN	L	74;32;32;32	ENSP00000160373:R74L;ENSP00000396014:R32L;ENSP00000405831:R32L;ENSP00000393373:R32L	ENSP00000160373:R74L	R	-	2	0	CTTNBP2	117238248	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.445000	0.80570	2.809000	0.96659	0.655000	0.94253	CGG	CTTNBP2	-	pfam_Cortactin-binding_p2_N		0.408	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	C	NM_033427		117451012	-1	no_errors	ENST00000160373	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117451012	C	A	117451012	3	1	110	1	0	0	0	0	1	0	0	0	4050	652	23	2	4854	2	CTTNBP2	7	117451012	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	10019374	117451012	41687651	151	16397										
OPN1SW	611	genome.wustl.edu	37	chr7	128415649	128415649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aatgtagttgaggggctgccGcaactttttgtagcgcagtg	14	7	0	1	rs373496991		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:128415649G>A	ENST00000249389.2	-	1	195	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	66					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGGCTGCCGCAACTTTTTG	0.547																																																	0								G	TRP/ARG	0,4406		0,0,2203	108	115	113		196	2.5	1	7		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	OPN1SW	NM_001708.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	66/349	128415649	1,13005	2203	4300	6503	SO:0001583	missense	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.196C>T	7.37:g.128415649G>A	ENSP00000249389:p.Arg66Trp		Q13877	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.R66W	ENST00000249389.2	37	c.196	CCDS5806.1	7	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519150	0.44866	0.0	1.16E-4	ENSG00000128617	ENST00000249389	T	0.45276	0.9	5.35	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.059479	0.64402	N	0.000005	T	0.64494	0.2603	M	0.90814	3.15	0.53688	D	0.999971	D	0.89917	1.0	D	0.76575	0.988	T	0.63287	-0.6671	10	0.87932	D	0	.	5.8494	0.18683	0.1735:0.0:0.6741:0.1524	.	66	P03999	OPSB_HUMAN	W	66	ENSP00000249389:R66W	ENSP00000249389:R66W	R	-	1	2	OPN1SW	128202885	1.000000	0.71417	0.998000	0.56505	0.221000	0.24807	1.513000	0.35823	0.344000	0.23847	-0.140000	0.14226	CGG	OPN1SW	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin		0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	G	NM_001708		128415649	-1	no_errors	ENST00000249389	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128415649	G	A	128415649	3	1	110	1	0	0	0	0	1	0	0	0	10904	1086	38	2	870	2	OPN1SW	7	128415649	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	10964637	128415649	30723014	152	16398										
KIAA1549	57670	genome.wustl.edu	37	chr7	138524885	138524885	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggagatactcacggcctctCttcgccccgcttcgtcctcc	8	18	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:138524885C>G	ENST00000422774.1	-	19	5639	c.5591G>C	c.(5590-5592)aGa>aCa	p.R1864T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1814T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1864T			Q9HCM3	K1549_HUMAN	KIAA1549	1864						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACGGCCTCTCTTCGCCCCGC	0.577			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													27	28	28					7																	138524885		1904	4017	5921	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5591G>C	7.37:g.138524885C>G	ENSP00000416040:p.Arg1864Thr		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.R1864T	ENST00000422774.1	37	c.5591	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205237	0.58234	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.28255	1.62;1.63;1.76	4.9	4.9	0.64082	.	0.482226	0.22512	N	0.059086	T	0.52141	0.1716	M	0.61703	1.905	0.43852	D	0.996445	D;D;D;D	0.89917	0.999;0.996;1.0;0.996	D;D;D;D	0.85130	0.994;0.99;0.997;0.99	T	0.44097	-0.9350	10	0.34782	T	0.22	.	15.6053	0.76664	0.0:1.0:0.0:0.0	.	1864;648;1864;648	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	T	1864;1814;1864	ENSP00000406661:R1864T;ENSP00000242365:R1814T;ENSP00000416040:R1864T	ENSP00000242365:R1814T	R	-	2	0	KIAA1549	138175425	1.000000	0.71417	0.952000	0.39060	0.478000	0.33099	4.969000	0.63735	2.438000	0.82558	0.585000	0.79938	AGA	KIAA1549	-	NULL		0.577	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	C			138524885	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	0.994	G	G	138524885	C	G	138524885	3	3	110	1	0	0	0	0	1	0	0	0	8264	913	32	1	269	1	KIAA1549	7	138524885	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	10109236	138524885	20613778	153	16399										
HIPK2	28996	genome.wustl.edu	37	chr7	139257806	139257806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gactcgggtggatggtgggcGagggcaggacccgggggccc	22	10	0	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:139257806G>A	ENST00000406875.3	-	15	3558	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L	HIPK2_ENST00000428878.2_Missense_Mutation_p.S1128L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1155	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S1155*(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GATGGTGGGCGAGGGCAGGAC	0.662																																																	2	Substitution - Nonsense(2)	lung(2)											35	43	41					7																	139257806		2157	4253	6410	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3464C>T	7.37:g.139257806G>A	ENSP00000385571:p.Ser1155Leu		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1155L	ENST00000406875.3	37	c.3464		7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367795	0.82463	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.68479	-0.27;-0.33	5.2	4.32	0.51571	.	.	.	.	.	T	0.53254	0.1785	.	.	.	0.52501	D	0.99995	P;P	0.39181	0.663;0.538	B;B	0.25506	0.028;0.061	T	0.57388	-0.7820	8	0.54805	T	0.06	.	13.2753	0.60184	0.0763:0.0:0.9237:0.0	.	1155;1128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	1155;1128	ENSP00000385571:S1155L;ENSP00000413724:S1128L	ENSP00000385571:S1155L	S	-	2	0	HIPK2	138908346	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	9.281000	0.95811	1.192000	0.43071	0.655000	0.94253	TCG	HIPK2	-	NULL		0.662	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	G	NM_022740		139257806	-1	no_errors	ENST00000406875	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139257806	G	A	139257806	3	1	110	1	0	0	0	0	1	0	0	0	7137	1059	37	1	136	1	HIPK2	7	139257806	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	732921	139257806	19880857	154	16400										
EPHA1	2041	genome.wustl.edu	37	chr7	143090861	143090861	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaagtgtggccggcgggcacGgtcatatgcccagcagttct	15	11	2	0	rs199929557		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:143090861G>C	ENST00000275815.3	-	16	2685	c.2599C>G	c.(2599-2601)Cgt>Ggt	p.R867G	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CGGCGGGCACGGTCATATGCC	0.587																																																	0													76	73	74					7																	143090861		2203	4300	6503	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2599C>G	7.37:g.143090861G>C	ENSP00000275815:p.Arg867Gly		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R867G	ENST00000275815.3	37	c.2599	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644385	0.47258	.	.	ENSG00000146904	ENST00000275815	T	0.62105	0.05	5.16	0.962	0.19643	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.230140	0.31031	N	0.008382	T	0.52273	0.1724	N	0.25201	0.72	0.46542	D	0.999091	P	0.45569	0.861	P	0.50970	0.655	T	0.49925	-0.8887	10	0.87932	D	0	.	6.0653	0.19860	0.1516:0.0:0.5735:0.2749	.	867	P21709	EPHA1_HUMAN	G	867	ENSP00000275815:R867G	ENSP00000275815:R867G	R	-	1	0	EPHA1	142800983	0.337000	0.24766	0.147000	0.22382	0.975000	0.68041	1.075000	0.30716	-0.009000	0.14296	-0.152000	0.13540	CGT	EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,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		0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	G			143090861	-1	no_errors	ENST00000275815	ensembl	human	known	70_37	missense	SNP	0.812	C	C	143090861	G	C	143090861	3	2	110	1	0	0	0	0	1	0	0	0	5177	1116	39	2	343	2	EPHA1	7	143090861	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3833055	143090861	16047802	155	16401										
GALNT11	63917	genome.wustl.edu	37	chr7	151802441	151802441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcgagggagaatgattggcgCggcccacgcgacaggtatca	15	10	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:151802441C>T	ENST00000434507.1	+	7	1135	c.698C>T	c.(697-699)gCg>gTg	p.A233V	GALNT11_ENST00000452146.2_Missense_Mutation_p.A152V|GALNT11_ENST00000430044.2_Missense_Mutation_p.A233V|GALNT11_ENST00000320311.2_Missense_Mutation_p.A233V|GALNT11_ENST00000422997.2_3'UTR			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	233	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGATTGGCGCGGCCCACGCG	0.473																																																	0													99	96	97					7																	151802441		2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.698C>T	7.37:g.151802441C>T	ENSP00000416787:p.Ala233Val		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A233V	ENST00000434507.1	37	c.698	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386541	0.82902	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.06	5.06	0.68205	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79458	-0.1795	10	0.87932	D	0	.	18.4403	0.90664	0.0:1.0:0.0:0.0	.	152;233	B7Z5G5;Q8NCW6	.;GLT11_HUMAN	V	233;152;233;233;233	ENSP00000395122:A233V;ENSP00000393399:A152V;ENSP00000416787:A233V;ENSP00000315835:A233V	ENSP00000315835:A233V	A	+	2	0	GALNT11	151433374	1.000000	0.71417	0.944000	0.38274	0.384000	0.30261	7.374000	0.79633	2.341000	0.79615	0.650000	0.86243	GCG	GALNT11	-	pfam_Glyco_trans_2		0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	C	NM_022087		151802441	1	no_errors	ENST00000320311	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151802441	C	T	151802441	3	4	110	1	0	0	0	0	1	0	0	0	6228	768	27	2	712	2	GALNT11	7	151802441	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	8711580	151802441	7336222	156	16402										
UBE3C	9690	genome.wustl.edu	37	chr7	157046683	157046683	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttcggtgggaaagacatcccTgtcaccagcgccaaccggat	11	13	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:157046683T>A	ENST00000348165.5	+	20	3090	c.2730T>A	c.(2728-2730)ccT>ccA	p.P910P		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	910	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AAGACATCCCTGTCACCAGCG	0.483																																																	0													55	58	57					7																	157046683		2203	4300	6503	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2730T>A	7.37:g.157046683T>A			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.P910	ENST00000348165.5	37	c.2730	CCDS34789.1	7																																																																																			UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.483	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	T	NM_014671		157046683	1	no_errors	ENST00000348165	ensembl	human	known	70_37	silent	SNP	0.695	A	A	157046683	T	A	157046683	2	1	110	1	0	0	0	0	0	0	0	1	16912	1567	55	5		5	UBE3C	7	157046683	Silent	SNP	T	TCGA-EK-A2RJ-01A-11D-A18J-09	5244242	157046683	2091980	157	16403										
EFHA2	286097	genome.wustl.edu	37	chr8	16962944	16962944	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcatggataatctccaaacaGaagttctagaaatagaattc	6	7	3	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:16962944G>C	ENST00000318063.5	+	11	1150	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	370						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TCTCCAAACAGAAGTTCTAGA	0.308																																																	0													44	43	44					8																	16962944		2192	4295	6487	SO:0001583	missense	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1108G>C	8.37:g.16962944G>C	ENSP00000321455:p.Glu370Gln		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E370Q	ENST00000318063.5	37	c.1108	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.026342|4.026342	0.75390|0.75390	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.29655|.	1.56|.	4.99|4.99	4.1|4.1	0.47936|0.47936	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79106|0.79106	0.4390|0.4390	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66351|.	0.943|.	T|T	0.82709|0.82709	-0.0323|-0.0323	10|5	0.66056|.	D|.	0.02|.	-23.0039|-23.0039	15.5749|15.5749	0.76368|0.76368	0.0:0.0:0.8609:0.1391|0.0:0.0:0.8609:0.1391	.|.	370|.	Q86XE3|.	EFHA2_HUMAN|.	Q|H	370|214	ENSP00000321455:E370Q|.	ENSP00000321455:E370Q|.	E|Q	+|+	1|3	0|2	EFHA2|EFHA2	17007315|17007315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	1.398000|1.398000	0.46701|0.46701	0.650000|0.650000	0.86243|0.86243	GAA|CAG	EFHA2	-	NULL		0.308	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	G	NM_181723		16962944	1	no_errors	ENST00000318063	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16962944	G	C	16962944	3	2	110	1	0	0	0	0	1	0	0	0	4954	943	33	1	1150	1	EFHA2	8	16962944	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		16962944	129401078	158	16404										
LPL	4023	genome.wustl.edu	37	chr8	19816872	19816872	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atggcaccgtggccgagagtGagaacatcccattcactctg	11	12	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:19816872G>C	ENST00000311322.8	+	7	1590	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	374	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGCCGAGAGTGAGAACATCCC	0.507																																																	0													84	77	79					8																	19816872		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1120G>C	8.37:g.19816872G>C	ENSP00000309757:p.Glu374Gln		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.E374Q	ENST00000311322.8	37	c.1120	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295592	0.40594	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.72051	-0.62	5.93	5.93	0.95920	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.100118	0.64402	D	0.000002	T	0.69762	0.3147	L	0.28344	0.845	0.35395	D	0.791096	P	0.45126	0.851	P	0.51550	0.673	T	0.67268	-0.5713	8	.	.	.	-37.6501	17.8463	0.88731	0.0:0.0:1.0:0.0	.	374	P06858	LIPL_HUMAN	Q	374;360	ENSP00000309757:E374Q	.	E	+	1	0	LPL	19861152	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	5.326000	0.65875	2.815000	0.96918	0.643000	0.83706	GAG	LPL	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,tigrfam_Lipo_Lipase		0.507	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	G			19816872	1	no_errors	ENST00000311322	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19816872	G	C	19816872	3	2	110	1	0	0	0	0	1	0	0	0	8944	1291	45	1	1146	1	LPL	8	19816872	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2853928	19816872	126547150	159	16405										
GFRA2	2675	genome.wustl.edu	37	chr8	21563461	21563461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taccaatcatgccagcataaGagcccagacacgcctggtaa	8	13	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:21563461G>C	ENST00000524240.1	-	5	1537	c.887C>G	c.(886-888)tCt>tGt	p.S296C	GFRA2_ENST00000517328.1_Missense_Mutation_p.S296C|GFRA2_ENST00000400782.4_Missense_Mutation_p.S191C|GFRA2_ENST00000518077.1_Missense_Mutation_p.S163C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	296					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCCAGCATAAGAGCCCAGACA	0.632																																																	0													44	48	47					8																	21563461		2005	4158	6163	SO:0001583	missense	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.887C>G	8.37:g.21563461G>C	ENSP00000428518:p.Ser296Cys		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.S296C	ENST00000524240.1	37	c.887	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323483	0.81580	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.46	5.46	0.80206	GDNF/GAS1 (2);	0.052219	0.85682	D	0.000000	T	0.78541	0.4299	M	0.70275	2.135	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.995	T	0.80645	-0.1290	10	0.87932	D	0	-32.3269	16.2325	0.82356	0.0:0.0:1.0:0.0	.	163;191;296	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	C	296;191;296;163;191	ENSP00000428518:S296C;ENSP00000383592:S191C;ENSP00000429445:S296C;ENSP00000429206:S163C;ENSP00000429979:S191C	ENSP00000383592:S191C	S	-	2	0	GFRA2	21607741	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.862000	0.87013	2.551000	0.86045	0.655000	0.94253	TCT	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt		0.632	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	G	NM_001495		21563461	-1	no_errors	ENST00000517328	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21563461	G	C	21563461	3	2	110	1	0	0	0	0	1	0	0	0	6367	942	33	1	527	1	GFRA2	8	21563461	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1746589	21563461	124800561	160	16406										
XPO7	23039	genome.wustl.edu	37	chr8	21824455	21824455	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggcagagaaagccttggttGaatttaccaacagccctgat	10	9	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:21824455G>C	ENST00000252512.9	+	2	206	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q	XPO7_ENST00000434536.1_Missense_Mutation_p.E36Q|XPO7_ENST00000433566.4_Missense_Mutation_p.E37Q|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	36	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCCTTGGTTGAATTTACCAA	0.483																																																	0													94	96	95					8																	21824455		2119	4265	6384	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.106G>C	8.37:g.21824455G>C	ENSP00000252512:p.Glu36Gln		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E36Q	ENST00000252512.9	37	c.106	CCDS47818.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.156090|3.156090	0.57259|0.57259	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566|ENST00000521303	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58004|0.58004	0.2092|0.2092	N|N	0.26130|0.26130	0.795|0.795	0.80722|0.80722	D|D	1|1	P;B;P|.	0.42203|.	0.706;0.227;0.773|.	P;B;P|.	0.46940|.	0.464;0.18;0.532|.	T|T	0.50294|0.50294	-0.8845|-0.8845	10|5	0.14656|.	T|.	0.56|.	-14.2247|-14.2247	19.7463|19.7463	0.96253|0.96253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	37;36;36|.	E7ESC6;E9PEN8;Q9UIA9|.	.;.;XPO7_HUMAN|.	Q|F	36;36;37|40	ENSP00000404853:E36Q;ENSP00000252512:E36Q;ENSP00000410249:E37Q|.	ENSP00000252512:E36Q|.	E|L	+|+	1|3	0|2	XPO7|XPO7	21880401|21880401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.802000|9.802000	0.99131|0.99131	2.771000|2.771000	0.95319|0.95319	0.655000|0.655000	0.94253|0.94253	GAA|TTG	XPO7	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N		0.483	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	G	NM_015024		21824455	1	no_errors	ENST00000434536	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21824455	G	C	21824455	3	2	110	1	0	0	0	0	1	0	0	0	17480	1291	45	1	137	1	XPO7	8	21824455	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	260994	21824455	124539567	161	16407										
EXTL3	2137	genome.wustl.edu	37	chr8	28574932	28574932	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggtgtgcaacacggctcttCgaagccctggaagtcggtgc	15	11	1	0	rs200003224		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:28574932C>T	ENST00000220562.4	+	3	2258	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.F68F	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	452					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CACGGCTCTTCGAAGCCCTGG	0.627																																																	0													58	60	59					8																	28574932		2203	4300	6503	SO:0001819	synonymous_variant	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1356C>T	8.37:g.28574932C>T			D3DST8|O00225|Q53XT3	Silent	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.F452	ENST00000220562.4	37	c.1356	CCDS6070.1	8																																																																																			EXTL3	-	pfam_Exostosin		0.627	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	C	NM_001440		28574932	1	no_errors	ENST00000220562	ensembl	human	known	70_37	silent	SNP	0.691	T	T	28574932	C	T	28574932	2	4	110	1	0	0	0	0	0	0	0	1	5339	883	31	1		1	EXTL3	8	28574932	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6750477	28574932	117789090	162	16408										
TMEM66	51669	genome.wustl.edu	37	chr8	29924375	29924375	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcctgaattttcatatccttGttgtcctgtaaaagcactgc	6	10	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:29924375G>A	ENST00000256255.6	-	4	1017	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	TMEM66_ENST00000536273.1_Nonsense_Mutation_p.Q82*|TMEM66_ENST00000545648.1_Nonsense_Mutation_p.Q82*	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		254					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCATATCCTTGTTGTCCTGTA	0.393																																																	0													143	141	142					8																	29924375		2203	4300	6503	SO:0001587	stop_gained	51669																														ENST00000256255.6:c.760C>T	8.37:g.29924375G>A	ENSP00000256255:p.Gln254*		B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Nonsense_Mutation	SNP	pfam_DUF1183_TMEM66	p.Q254*	ENST00000256255.6	37	c.760	CCDS6074.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.041599|8.041599	0.98624|0.98624	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127|ENST00000518296	.|.	.|.	.|.	4.38|4.38	3.49|3.49	0.39957|0.39957	.|.	0.179734|.	0.51477|.	D|.	0.000084|.	.|T	.|0.41328	.|0.1154	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49725	.|-0.8909	.|3	0.21014|.	T|.	0.42|.	-8.6193|-8.6193	6.1691|6.1691	0.20406|0.20406	0.1033:0.1931:0.7036:0.0|0.1033:0.1931:0.7036:0.0	.|.	.|.	.|.	.|.	X|I	254;82;218;82;152|123	.|.	ENSP00000256255:Q254X|.	Q|T	-|-	1|2	0|0	TMEM66|TMEM66	30043917|30043917	0.089000|0.089000	0.21612|0.21612	0.938000|0.938000	0.37757|0.37757	0.986000|0.986000	0.74619|0.74619	1.617000|1.617000	0.36943|0.36943	0.838000|0.838000	0.34948|0.34948	0.580000|0.580000	0.79431|0.79431	CAA|ACA	TMEM66	-	pfam_DUF1183_TMEM66		0.393	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM66	HGNC	protein_coding	OTTHUMT00000257254.4	G			29924375	-1	no_errors	ENST00000256255	ensembl	human	known	70_37	nonsense	SNP	0.145	A	A	29924375	G	A	29924375	4	1	110	1	0	0	0	0	0	1	0	0	16225	1386	48	4	271	4	TMEM66	8	29924375	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1349443	29924375	116439647	163	16409										
RP1	6101	genome.wustl.edu	37	chr8	55539114	55539114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taaacaacatgctacaaccaGggcaaattctttagcttctt	5	10	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:55539114G>T	ENST00000220676.1	+	4	2820	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	891					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTACAACCAGGGCAAATTCT	0.323																																					Colon(91;1014 1389 7634 14542 40420)												0													31	34	33					8																	55539114		2200	4296	6496	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2672G>T	8.37:g.55539114G>T	ENSP00000220676:p.Arg891Met			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R891M	ENST00000220676.1	37	c.2672	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615008	0.28712	.	.	ENSG00000104237	ENST00000220676	T	0.50813	0.73	5.55	4.68	0.58851	.	0.219079	0.32819	N	0.005620	T	0.58850	0.2151	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.56505	-0.7968	10	0.87932	D	0	.	13.4657	0.61251	0.0754:0.0:0.9246:0.0	.	891	P56715	RP1_HUMAN	M	891	ENSP00000220676:R891M	ENSP00000220676:R891M	R	+	2	0	RP1	55701667	0.008000	0.16893	0.364000	0.25888	0.256000	0.26092	1.225000	0.32551	1.344000	0.45657	-0.136000	0.14681	AGG	RP1	-	NULL		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55539114	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.080	T	T	55539114	G	T	55539114	3	4	110	1	0	0	0	0	1	0	0	0	13562	1000	35	4	2682	4	RP1	8	55539114	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	25614739	55539114	90824908	164	16410										
C8orf45	157777	genome.wustl.edu	37	chr8	67796113	67796113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	attacccctcctgggacttaCaatttgctcaagctctgttt	6	12	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:67796113C>T	ENST00000422365.2	+	9	1128	c.957C>T	c.(955-957)taC>taT	p.Y319Y	MCMDC2_ENST00000313616.5_Silent_p.Y319Y|MCMDC2_ENST00000541540.1_Silent_p.Y256Y|MCMDC2_ENST00000396592.3_Silent_p.Y319Y|MCMDC2_ENST00000492775.1_Silent_p.Y319Y	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	319					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						CTGGGACTTACAATTTGCTCA	0.403																																																	0													77	72	74					8																	67796113		2203	4300	6503	SO:0001819	synonymous_variant	157777			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.957C>T	8.37:g.67796113C>T			B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.Y319	ENST00000422365.2	37	c.957	CCDS6197.2	8																																																																																			MCMDC2	-	smart_MCM_DNA-dep_ATPase		0.403	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	C	NM_173518		67796113	1	no_errors	ENST00000422365	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67796113	C	T	67796113	2	4	110	1	0	0	0	0	0	0	0	1	2435	489	17	4		4	C8orf45	8	67796113	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	12256999	67796113	78567909	165	16411										
PDP1	54704	genome.wustl.edu	37	chr8	94935385	94935385	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggagcattgaccttcaaaaGagagtgatagaatctggccc	11	8	2	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:94935385G>C	ENST00000297598.4	+	2	1367	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	PDP1_ENST00000517764.1_Missense_Mutation_p.K366N|PDP1_ENST00000520728.1_Missense_Mutation_p.K366N|PDP1_ENST00000396200.3_Missense_Mutation_p.K391N	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	366					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACCTTCAAAAGAGAGTGATAG	0.443																																																	0													101	102	101					8																	94935385		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1098G>C	8.37:g.94935385G>C	ENSP00000297598:p.Lys366Asn		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.K391N	ENST00000297598.4	37	c.1173	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	9.476	1.097002	0.20552	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.50001	0.77;0.77;0.76;0.77	6.16	4.14	0.48551	Protein phosphatase 2C-like (5);	0.045508	0.85682	D	0.000000	T	0.33235	0.0856	N	0.25992	0.78	0.51767	D	0.999936	B;B	0.19445	0.036;0.036	B;B	0.23018	0.043;0.043	T	0.11397	-1.0589	10	0.36615	T	0.2	-22.6705	9.3532	0.38151	0.2431:0.0:0.7569:0.0	.	417;366	B4DYX8;Q9P0J1	.;PDP1_HUMAN	N	366;366;391;366	ENSP00000297598:K366N;ENSP00000428317:K366N;ENSP00000379503:K391N;ENSP00000430380:K366N	ENSP00000297598:K366N	K	+	3	2	PDP1	95004561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.442000	0.44873	1.364000	0.46038	0.650000	0.86243	AAG	PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	G	NM_018444		94935385	1	no_errors	ENST00000396200	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94935385	G	C	94935385	3	2	110	1	0	0	0	0	1	0	0	0	11709	933	33	1	1281	1	PDP1	8	94935385	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	27139272	94935385	51428637	166	16412										
INTS8	55656	genome.wustl.edu	37	chr8	95885647	95885647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcactattacctccaggcagGagctgtgtgttctgacttct	9	11	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:95885647G>A	ENST00000523731.1	+	22	2712	c.2579G>A	c.(2578-2580)gGa>gAa	p.G860E	INTS8_ENST00000447247.1_Missense_Mutation_p.G860E	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	860					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CTCCAGGCAGGAGCTGTGTGT	0.443																																																	0													290	281	284					8																	95885647		2203	4300	6503	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2579G>A	8.37:g.95885647G>A	ENSP00000430338:p.Gly860Glu		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.G860E	ENST00000523731.1	37	c.2579	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556148|4.556148	0.86231|0.86231	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|T;T	.|0.34275	.|1.37;1.37	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59362|0.59362	0.2188|0.2188	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.61520|0.61520	-0.7046|-0.7046	5|10	.|0.49607	.|T	.|0.09	-11.0672|-11.0672	17.9015|17.9015	0.88905|0.88905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|860	.|Q75QN2	.|INT8_HUMAN	K|E	682|860	.|ENSP00000430338:G860E;ENSP00000398203:G860E	.|ENSP00000398203:G860E	E|G	+|+	1|2	0|0	INTS8|INTS8	95954823|95954823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.210000|2.210000	0.71456|0.71456	0.655000|0.655000	0.94253|0.94253	GAG|GGA	INTS8	-	NULL		0.443	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	G	NM_017864		95885647	1	no_errors	ENST00000523731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95885647	G	A	95885647	3	1	110	1	0	0	0	0	1	0	0	0	7804	1174	41	1	2665	1	INTS8	8	95885647	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	950262	95885647	50478375	167	16413										
UBR5	51366	genome.wustl.edu	37	chr8	103358560	103358560	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tacagcaaggttcacatcaaGatttgttctctgaagttctc	7	9	4	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:103358560G>C	ENST00000520539.1	-	7	1246	c.640C>G	c.(640-642)Ctt>Gtt	p.L214V	UBR5_ENST00000220959.4_Missense_Mutation_p.L214V|UBR5_ENST00000521922.1_Missense_Mutation_p.L214V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	214					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACATCAAGATTTGTTCTC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)												0													131	123	126					8																	103358560		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.640C>G	8.37:g.103358560G>C	ENSP00000429084:p.Leu214Val		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.L214V	ENST00000520539.1	37	c.640	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044949	0.93685	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.77358	-1.05;-1.05;-1.09	5.47	5.47	0.80525	E3 ubiquitin ligase EDD, ubiquitin-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.57536	1.79	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	D	0.87203	0.2242	10	0.87932	D	0	.	19.6975	0.96031	0.0:0.0:1.0:0.0	.	214;214	E7EMW7;O95071	.;UBR5_HUMAN	V	214	ENSP00000429084:L214V;ENSP00000220959:L214V;ENSP00000427819:L214V	ENSP00000220959:L214V	L	-	1	0	UBR5	103427736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.878000	0.87231	2.729000	0.93468	0.557000	0.71058	CTT	UBR5	-	pfam_E3_UbLigase_EDD_UBA		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103358560	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103358560	G	C	103358560	3	2	110	1	0	0	0	0	1	0	0	0	16936	942	33	1	7971	1	UBR5	8	103358560	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	7472913	103358560	43005462	168	16414										
ADCY8	114	genome.wustl.edu	37	chr8	131949350	131949350	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gatcatgctgagacccatttCaacacagcagtgggcatggt	11	10	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:131949350C>T	ENST00000286355.5	-	5	3542	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E484K|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	484					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGACCCATTTCAACACAGCAG	0.522										HNSCC(32;0.087)																																							0													132	119	123					8																	131949350		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1450G>A	8.37:g.131949350C>T	ENSP00000286355:p.Glu484Lys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E484K	ENST00000286355.5	37	c.1450	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.945264	0.97134	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.81908	-1.55;-1.55;-1.55	5.6	5.6	0.85130	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	N	0.20986	0.625	0.53688	D	0.999971	D;D	0.71674	0.996;0.998	D;D	0.71184	0.972;0.955	D	0.84868	0.0823	10	0.37606	T	0.19	.	18.6065	0.91268	0.0:1.0:0.0:0.0	.	484;484	E7EVL1;P40145	.;ADCY8_HUMAN	K	484;484;99	ENSP00000286355:E484K;ENSP00000367161:E484K;ENSP00000428010:E99K	ENSP00000286355:E484K	E	-	1	0	ADCY8	132018532	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.794000	0.85869	2.653000	0.90120	0.650000	0.86243	GAA	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131949350	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131949350	C	T	131949350	3	4	110	1	0	0	0	0	1	0	0	0	300	835	29	1	2361	1	ADCY8	8	131949350	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	28590790	131949350	14414672	169	16415										
TRAPPC9	83696	genome.wustl.edu	37	chr8	141321456	141321456	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgtatagttctctaggctttGggccacatctttcttttctg	8	10	4	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:141321456G>A	ENST00000438773.2	-	10	1646	c.1513C>T	c.(1513-1515)Caa>Taa	p.Q505*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.Q496*|TRAPPC9_ENST00000389328.4_Nonsense_Mutation_p.Q603*	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	505				Missing (in Ref. 4; CAH56384). {ECO:0000305}.	cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTAGGCTTTGGGCCACATCT	0.493																																																	0													96	95	95					8																	141321456		2203	4300	6503	SO:0001587	stop_gained	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1513C>T	8.37:g.141321456G>A	ENSP00000405060:p.Gln505*		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Nonsense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.Q603*	ENST00000438773.2	37	c.1807	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.458543|4.458543	0.84317|0.84317	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.66|5.66	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.42899|.	0.1223|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42413|.	-0.9453|.	3|.	.|0.02654	.|T	.|1	.|.	16.5787|16.5787	0.84708|0.84708	0.0:0.1308:0.8692:0.0|0.0:0.1308:0.8692:0.0	.|.	.|.	.|.	.|.	L|X	348|603;496;505	.|.	.|ENSP00000373978:Q496X	P|Q	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141390638|141390638	1.000000|1.000000	0.71417|0.71417	0.245000|0.245000	0.24217|0.24217	0.031000|0.031000	0.12232|0.12232	8.365000|8.365000	0.90108|0.90108	1.515000|1.515000	0.48885|0.48885	-0.181000|-0.181000	0.13052|0.13052	CCA|CAA	TRAPPC9	-	NULL		0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	G	NM_031466		141321456	-1	no_errors	ENST00000389328	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	141321456	G	A	141321456	4	1	110	1	0	0	0	0	0	1	0	0	16496	1357	47	4	1989	4	TRAPPC9	8	141321456	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9372106	141321456	5042566	170	16416										
PLEC	5339	genome.wustl.edu	37	chr8	144996801	144996801	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgtcgctggatctccagtgtCtgcaccagggtcaccttctc	10	14	4	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:144996801C>T	ENST00000322810.4	-	31	7876	c.7707G>A	c.(7705-7707)caG>caA	p.Q2569Q	PLEC_ENST00000527096.1_Silent_p.Q2455Q|PLEC_ENST00000345136.3_Silent_p.Q2432Q|PLEC_ENST00000354958.2_Silent_p.Q2410Q|PLEC_ENST00000356346.3_Silent_p.Q2418Q|PLEC_ENST00000357649.2_Silent_p.Q2436Q|PLEC_ENST00000354589.3_Silent_p.Q2432Q|PLEC_ENST00000398774.2_Silent_p.Q2400Q|PLEC_ENST00000436759.2_Silent_p.Q2459Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2569	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCAGTGTCTGCACCAGGG	0.647																																																	0													44	48	46					8																	144996801		2180	4283	6463	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7707G>A	8.37:g.144996801C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q2569	ENST00000322810.4	37	c.7707	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996801	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.980	T	T	144996801	C	T	144996801	2	4	110	1	0	0	0	0	0	0	0	1	12076	912	32	1		1	PLEC	8	144996801	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3675345	144996801	1367221	171	16417										
CPSF1	29894	genome.wustl.edu	37	chr8	145624722	145624722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggcctcgctgccgtacacttCaatctcgtccacctcatcct	6	18	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:145624722C>G	ENST00000349769.3	-	14	1430	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	446					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGTACACTTCAATCTCGTCC	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)												0													51	43	45					8																	145624722		2203	4300	6503	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1336G>C	8.37:g.145624722C>G	ENSP00000339353:p.Glu446Gln		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.E446Q	ENST00000349769.3	37	c.1336	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154658	0.57259	.	.	ENSG00000071894	ENST00000349769	T	0.47869	0.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.55213	1.73	0.80722	D	1	P	0.47604	0.898	P	0.53722	0.733	T	0.54596	-0.8270	10	0.41790	T	0.15	-16.0562	17.2513	0.87043	0.0:1.0:0.0:0.0	.	446	Q10570	CPSF1_HUMAN	Q	446	ENSP00000339353:E446Q	ENSP00000339353:E446Q	E	-	1	0	CPSF1	145595530	1.000000	0.71417	0.206000	0.23566	0.031000	0.12232	7.170000	0.77587	2.664000	0.90586	0.455000	0.32223	GAA	CPSF1	-	NULL		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624722	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	0.999	G	G	145624722	C	G	145624722	3	3	110	1	0	0	0	0	1	0	0	0	3829	835	29	1	3095	1	CPSF1	8	145624722	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	627921	145624722	739300	172	16418										
KCNV2	169522	genome.wustl.edu	37	chr9	2718192	2718192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagacagacgaatacttcttCgaccgcgacccggccgtctt	9	15	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	151					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652																																																	0													25	22	23					9																	2718192		2201	4298	6499	SO:0001819	synonymous_variant	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.453C>T	9.37:g.2718192C>T			Q5T6X0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.F151	ENST00000382082.3	37	c.453	CCDS6447.1	9																																																																																			KCNV2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3		0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	HGNC	protein_coding	OTTHUMT00000051528.1	C	NM_133497		2718192	1	no_errors	ENST00000382082	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2718192	C	T	2718192	2	4	110	1	0	0	0	0	0	0	0	1	8115	883	31	1		1	KCNV2	9	2718192	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09		2718192	138495239	173	16419										
KDM4C	23081	genome.wustl.edu	37	chr9	7174698	7174698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccgcacttttttgaagagctCtttccagaagaagtgccaga	9	10	1	5			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:7174698C>G	ENST00000381309.3	+	22	3705	c.3140C>G	c.(3139-3141)tCt>tGt	p.S1047C	KDM4C_ENST00000428870.2_Missense_Mutation_p.S734C|KDM4C_ENST00000442236.2_Missense_Mutation_p.S792C	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1047					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TTGAAGAGCTCTTTCCAGAAG	0.483																																																	0													148	153	151					9																	7174698		2203	4300	6503	SO:0001583	missense	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3140C>G	9.37:g.7174698C>G	ENSP00000370710:p.Ser1047Cys		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S1047C	ENST00000381309.3	37	c.3140	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232387	0.79688	.	.	ENSG00000107077	ENST00000381309;ENST00000442236;ENST00000428870	T;T;T	0.34275	1.37;1.37;1.37	5.69	5.69	0.88448	.	0.083866	0.50627	D	0.000109	T	0.53400	0.1794	L	0.36672	1.1	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.894	T	0.50617	-0.8807	10	0.52906	T	0.07	.	19.8167	0.96571	0.0:1.0:0.0:0.0	.	792;1047	E7EV17;Q9H3R0	.;KDM4C_HUMAN	C	1047;792;734	ENSP00000370710:S1047C;ENSP00000409353:S792C;ENSP00000405739:S734C	ENSP00000370710:S1047C	S	+	2	0	KDM4C	7164698	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.564000	0.60830	2.671000	0.90904	0.591000	0.81541	TCT	KDM4C	-	superfamily_Chorismate_mutase_type_II		0.483	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		7174698	1	no_errors	ENST00000381309	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7174698	C	G	7174698	3	3	110	1	0	0	0	0	1	0	0	0	8150	913	32	1	3464	1	KDM4C	9	7174698	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4456506	7174698	134038733	174	16420										
BNC2	54796	genome.wustl.edu	37	chr9	16436817	16436817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caggtgaacagcattgtaatGaattttgagagtacctttgt	10	5	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:16436817G>A	ENST00000380672.4	-	6	1432	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	BNC2_ENST00000545497.1_Missense_Mutation_p.H364Y|BNC2_ENST00000380667.2_Missense_Mutation_p.H392Y|BNC2_ENST00000380666.2_Missense_Mutation_p.H459Y	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCATTGTAATGAATTTTGAGA	0.443																																																	0													121	114	116					9																	16436817		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1375C>T	9.37:g.16436817G>A	ENSP00000370047:p.His459Tyr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H459Y	ENST00000380672.4	37	c.1375	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538128	0.65085	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	D;D;D;D;D	0.99964	-9.97;-9.97;-9.97;-9.97;-9.97	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.996;0.991;0.999;0.997;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.986;0.999;0.986;0.982;0.998;0.995;0.998	D	0.97061	0.9771	10	0.87932	D	0	-13.6158	20.6439	0.99570	0.0:0.0:1.0:0.0	.	364;392;459;285;459;416;459;364;224	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	Y	459;416;392;364;285;459;459	ENSP00000370047:H459Y;ENSP00000408370:H416Y;ENSP00000370042:H392Y;ENSP00000444640:H364Y;ENSP00000370041:H459Y	ENSP00000370041:H459Y	H	-	1	0	BNC2	16426817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CAT	BNC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	G	NM_017637		16436817	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16436817	G	A	16436817	3	1	110	1	0	0	0	0	1	0	0	0	1476	1290	45	1	1932	1	BNC2	9	16436817	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9262119	16436817	124776614	175	16421										
TLN1	7094	genome.wustl.edu	37	chr9	35717718	35717718	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctgtccgctgggccacactCttggccttgaggaccagggc	13	14	2	1	rs373242456		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:35717718C>G	ENST00000314888.9	-	18	2414	c.2061G>C	c.(2059-2061)aaG>aaC	p.K687N	TLN1_ENST00000540444.1_Missense_Mutation_p.K687N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	687					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCACACTCTTGGCCTTGA	0.547																																																	0													142	120	127					9																	35717718		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2061G>C	9.37:g.35717718C>G	ENSP00000316029:p.Lys687Asn		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.K687N	ENST00000314888.9	37	c.2061	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983098	0.74474	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73152	-0.69;-0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83886	0.0282	10	0.35671	T	0.21	-21.6337	11.661	0.51347	0.0:0.9193:0.0:0.0807	.	687	Q9Y490	TLN1_HUMAN	N	687	ENSP00000316029:K687N;ENSP00000442981:K687N	ENSP00000316029:K687N	K	-	3	2	TLN1	35707718	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.052000	0.57420	2.571000	0.86741	0.561000	0.74099	AAG	TLN1	-	NULL		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289		35717718	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35717718	C	G	35717718	3	3	110	1	0	0	0	0	1	0	0	0	15977	912	32	1	5724	1	TLN1	9	35717718	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	19280901	35717718	105495713	176	16422										
FLJ46321	389763	genome.wustl.edu	37	chr9	84607470	84607470	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caacacattcgaaggaggctCatccagcgcagatggggcct	12	12	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:84607470C>T	ENST00000344803.2	+	4	2132	c.2085C>T	c.(2083-2085)ctC>ctT	p.L695L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	695					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAGGAGGCTCATCCAGCGCA	0.493																																																	0													84	80	81					9																	84607470		1863	4085	5948	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2085C>T	9.37:g.84607470C>T				Silent	SNP	NULL	p.L695	ENST00000344803.2	37	c.2085	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		84607470	1	no_errors	ENST00000344803	ensembl	human	known	70_37	silent	SNP	0.007	T	T	84607470	C	T	84607470	2	4	110	1	0	0	0	0	0	0	0	1	5950	813	29	1		1	FLJ46321	9	84607470	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	48889752	84607470	56605961	177	16423										
HABP4	22927	genome.wustl.edu	37	chr9	99250501	99250501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agccagaggaggcacccgggGaggccggggaaggatcagga	20	9	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:99250501G>A	ENST00000375249.4	+	7	1205	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	HABP4_ENST00000375251.3_Missense_Mutation_p.G272E|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GGCACCCGGGGAGGCCGGGGA	0.547																																																	0													113	116	115					9																	99250501		2203	4300	6503	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1130G>A	9.37:g.99250501G>A	ENSP00000364398:p.Gly377Glu			Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.G377E	ENST00000375249.4	37	c.1130	CCDS6719.1	9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546130	0.86022	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.108809	0.64402	D	0.000008	T	0.58250	0.2109	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.949	T	0.53592	-0.8417	10	0.40728	T	0.16	-21.781	15.6951	0.77490	0.0:0.0:1.0:0.0	.	272;377	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	E	272;377	ENSP00000364400:G272E;ENSP00000364398:G377E	ENSP00000364398:G377E	G	+	2	0	HABP4	98290322	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.075000	0.89502	2.756000	0.94617	0.650000	0.86243	GGA	HABP4	-	NULL		0.547	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	G	NM_014282		99250501	1	no_errors	ENST00000375249	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99250501	G	A	99250501	3	1	110	1	0	0	0	0	1	0	0	0	6959	1174	41	1	1156	1	HABP4	9	99250501	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	14643031	99250501	41962930	178	16424										
TMEM38B	55151	genome.wustl.edu	37	chr9	108510422	108510422	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cacccagcatctggcaatatCaaagcataatcttatgttcc	5	12	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:108510422C>G	ENST00000374692.3	+	5	728	c.611C>G	c.(610-612)tCa>tGa	p.S204*	TMEM38B_ENST00000374688.1_Nonsense_Mutation_p.S150*	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	204						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGGCAATATCAAAGCATAAT	0.373																																																	0													91	83	86					9																	108510422		2203	4300	6503	SO:0001587	stop_gained	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.611C>G	9.37:g.108510422C>G	ENSP00000363824:p.Ser204*		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Nonsense_Mutation	SNP	pfam_TRIC_channel	p.S204*	ENST00000374692.3	37	c.611	CCDS6768.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.09|18.09|18.09	3.546159|3.546159|3.546159	0.65198|0.65198|0.65198	.|.|.	.|.|.	ENSG00000095209|ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034|ENST00000374692;ENST00000374688	.|.|.	.|.|.	.|.|.	5.47|5.47|5.47	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.526013	.|.|0.21068	.|.|N	.|.|0.080701	T|T|.	0.70692|0.70692|.	0.3253|0.3253|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.70208|0.70208|.	-0.4935|-0.4935|.	5|4|.	0.46703|.|0.46703	T|.|T	0.11|.|0.11	-2.8215|-2.8215|-2.8215	13.7646|13.7646|13.7646	0.62988|0.62988|0.62988	0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|E|X	64|141|204;150	.|.|.	ENSP00000416680:I64M|.|ENSP00000363820:S150X	I|Q|S	+|+|+	3|1|2	3|0|0	TMEM38B|TMEM38B|TMEM38B	107550243|107550243|107550243	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.967000|0.967000|0.967000	0.64934|0.64934|0.64934	1.480000|1.480000|1.480000	0.35464|0.35464|0.35464	2.720000|2.720000|2.720000	0.93068|0.93068|0.93068	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	ATC|CAA|TCA	TMEM38B	-	pfam_TRIC_channel		0.373	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	HGNC	protein_coding	OTTHUMT00000053517.1	C	NM_018112		108510422	1	no_errors	ENST00000374692	ensembl	human	known	70_37	nonsense	SNP	0.998	G	G	108510422	C	G	108510422	4	3	110	1	0	0	0	0	0	1	0	0	16190	838	29	1	629	1	TMEM38B	9	108510422	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	9259921	108510422	32703009	179	16425										
ROD1	9991	genome.wustl.edu	37	chr9	115013283	115013283	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtctaagcgagtgaagtctCtgcttttgtcattattatat	9	6	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:115013283C>G	ENST00000374255.2	-	8	959	c.812G>C	c.(811-813)aGa>aCa	p.R271T	PTBP3_ENST00000334318.6_Missense_Mutation_p.R274T|PTBP3_ENST00000343327.2_Missense_Mutation_p.R176T|RNA5SP295_ENST00000362655.1_RNA|PTBP3_ENST00000458258.1_Missense_Mutation_p.R277T|PTBP3_ENST00000374257.1_Missense_Mutation_p.R243T			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	271					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGTGAAGTCTCTGCTTTTGTC	0.463																																																	0													186	193	190					9																	115013283		2203	4300	6503	SO:0001583	missense	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.812G>C	9.37:g.115013283C>G	ENSP00000363373:p.Arg271Thr		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.R277T	ENST00000374255.2	37	c.830	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762683	0.89932	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.63255	-0.01;-0.02;-0.03;-0.03;0.99	5.55	4.64	0.57946	Nucleotide-binding, alpha-beta plait (1);	0.048692	0.85682	D	0.000000	T	0.80757	0.4684	M	0.87682	2.9	0.58432	D	0.999999	D;D;D;D;P;D	0.89917	0.97;0.964;0.989;1.0;0.89;0.997	D;D;D;D;P;D	0.87578	0.937;0.929;0.973;0.998;0.753;0.991	T	0.81241	-0.1022	10	0.44086	T	0.13	-7.0751	15.0099	0.71542	0.0:0.9307:0.0:0.0693	.	243;243;176;274;271;277	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	T	243;274;277;271;176	ENSP00000363375:R243T;ENSP00000334499:R274T;ENSP00000414921:R277T;ENSP00000363373:R271T;ENSP00000340705:R176T	ENSP00000334499:R274T	R	-	2	0	ROD1	114053104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.927000	0.70080	2.894000	0.99253	0.591000	0.81541	AGA	PTBP3	-	tigrfam_HnRNP-L_PTB		0.463	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	C			115013283	-1	no_errors	ENST00000458258	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115013283	C	G	115013283	3	3	110	1	0	0	0	0	1	0	0	0	13549	913	32	1	878	1	ROD1	9	115013283	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6502861	115013283	26200148	180	16426										
ZNF618	114991	genome.wustl.edu	37	chr9	116812420	116812420	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccagaagatatgaataaactCatgtttctgaaatccaacat	5	8	2	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:116812420C>T	ENST00000374126.5	+	15	2937	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	ZNF618_ENST00000288466.7_Silent_p.L853L|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	946					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGAATAAACTCATGTTTCTGA	0.423																																																	0													70	76	74					9																	116812420		1863	4099	5962	SO:0001819	synonymous_variant	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2838C>T	9.37:g.116812420C>T			B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L946	ENST00000374126.5	37	c.2838		9																																																																																			ZNF618	-	superfamily_RNaseH-like_dom		0.423	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	C	XM_054983		116812420	1	no_errors	ENST00000374126	ensembl	human	known	70_37	silent	SNP	1.000	T	T	116812420	C	T	116812420	2	4	110	1	0	0	0	0	0	0	0	1	18072	813	29	1		1	ZNF618	9	116812420	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1799137	116812420	24401011	181	16427										
OR1J2	26740	genome.wustl.edu	37	chr9	125273356	125273356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cggactaagtacaaatcgatCctctatgaggaatgcatttc	8	9	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:125273356C>G	ENST00000335302.5	+	1	276	c.276C>G	c.(274-276)atC>atG	p.I92M		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I92I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAATCGATCCTCTATGAGG	0.408																																																	1	Substitution - coding silent(1)	large_intestine(1)											159	135	143					9																	125273356		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.276C>G	9.37:g.125273356C>G	ENSP00000335575:p.Ile92Met		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I92M	ENST00000335302.5	37	c.276	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413601	0.25465	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.06768	3.26	5.02	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001168	T	0.15046	0.0363	M	0.88979	2.995	0.09310	N	0.999999	B	0.29432	0.244	B	0.42030	0.373	T	0.36212	-0.9757	10	0.87932	D	0	.	0.6142	0.00766	0.3194:0.2792:0.1094:0.292	.	92	Q8NGS2	OR1J2_HUMAN	M	92	ENSP00000335575:I92M	ENSP00000335575:I92M	I	+	3	3	OR1J2	124313177	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.148000	0.00583	-0.166000	0.10890	-0.158000	0.13435	ATC	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.408	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	C			125273356	1	no_errors	ENST00000335302	ensembl	human	known	70_37	missense	SNP	0.001	G	G	125273356	C	G	125273356	3	3	110	1	0	0	0	0	1	0	0	0	10984	845	30	1	278	1	OR1J2	9	125273356	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	8460936	125273356	15940075	182	16428										
SPTAN1	6709	genome.wustl.edu	37	chr9	131362362	131362362	+	Frame_Shift_Del	DEL	G	G	-													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cctctttctttgaataggatGaaactgattccaagacagcc							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:131362362delG	ENST00000372731.4	+	27	3657	c.3547delG	c.(3547-3549)gaafs	p.E1183fs	SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.E1183fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1183fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1183					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAATAGGATGAAACTGATTC	0.438																																					NSCLC(120;833 1744 2558 35612 37579)												0													124	114	117					9																	131362362		2203	4300	6503	SO:0001589	frameshift_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3547delG	9.37:g.131362362delG	ENSP00000361816:p.Glu1183fs		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E1183fs	ENST00000372731.4	37	c.3547	CCDS6905.1	9																																																																																			SPTAN1	-	smart_Spectrin/alpha-actinin		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131362362	1	no_errors	ENST00000358161	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	131362362	G	-	131362362	7	5	110	1	0	1	0	1	0	0	0	0	15147	1291	45	0	3649	0	SPTAN1	9	131362362	Frame_Shift_Del	DEL	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6089006	131362362	9851069	183	16429										
USP20	10868	genome.wustl.edu	37	chr9	132631176	132631176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctcacctacgcagctcctctCgcccctgcagccccgtccac	6	23	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:132631176C>T	ENST00000315480.4	+	12	1329	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	USP20_ENST00000372429.3_Missense_Mutation_p.R391C|USP20_ENST00000358355.1_Missense_Mutation_p.R391C			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	391	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGCTCCTCTCGCCCCTGCAG	0.667																																																	0													40	49	46					9																	132631176		2158	4250	6408	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1171C>T	9.37:g.132631176C>T	ENSP00000313811:p.Arg391Cys		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R391C	ENST00000315480.4	37	c.1171	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090722	0.76756	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19532	2.14;2.14;2.14	4.94	4.94	0.65067	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.065200	0.07235	N	0.863320	T	0.42040	0.1185	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.08289	-1.0729	10	0.59425	D	0.04	.	17.1632	0.86809	0.0:1.0:0.0:0.0	.	391	Q9Y2K6	UBP20_HUMAN	C	391	ENSP00000361506:R391C;ENSP00000313811:R391C;ENSP00000351122:R391C	ENSP00000313811:R391C	R	+	1	0	USP20	131670997	0.989000	0.36119	0.984000	0.44739	0.904000	0.53231	3.537000	0.53590	2.287000	0.76781	0.561000	0.74099	CGC	USP20	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132631176	1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132631176	C	T	132631176	3	4	110	1	0	0	0	0	1	0	0	0	17083	884	31	1	1209	1	USP20	9	132631176	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1268814	132631176	8582255	184	16430										
SEC16A	9919	genome.wustl.edu	37	chr9	139371076	139371076	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgagggggttcacaagagcaGaggcgggccggtgctcattc	17	10	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:139371076G>A	ENST00000371706.3	-	1	491	c.458C>T	c.(457-459)tCt>tTt	p.S153F	SEC16A_ENST00000290037.6_Missense_Mutation_p.S153F|SEC16A_ENST00000431893.2_Missense_Mutation_p.S153F|SEC16A_ENST00000313050.7_Missense_Mutation_p.S331F			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	153					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CACAAGAGCAGAGGCGGGCCG	0.602																																																	0													26	30	29					9																	139371076		1884	4104	5988	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.458C>T	9.37:g.139371076G>A	ENSP00000360771:p.Ser153Phe		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.S331F	ENST00000371706.3	37	c.992		9	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818967	0.32145	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.91	0.878	0.19150	.	0.238942	0.32987	N	0.005404	T	0.11324	0.0276	N	0.14661	0.345	0.21527	N	0.99966	P;P;P	0.37636	0.468;0.603;0.603	B;B;B	0.30495	0.054;0.116;0.116	T	0.15578	-1.0432	10	0.66056	D	0.02	-4.0595	6.9916	0.24758	0.1865:0.1242:0.6892:0.0	.	331;153;153	F1T0I1;O15027-5;O15027-4	.;.;.	F	331;153;153;153	ENSP00000325827:S331F;ENSP00000360771:S153F;ENSP00000290037:S153F;ENSP00000387583:S153F	ENSP00000290037:S153F	S	-	2	0	SEC16A	138490897	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.882000	0.28186	-0.037000	0.13646	-0.150000	0.13652	TCT	SEC16A	-	NULL		0.602	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139371076	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.002	A	A	139371076	G	A	139371076	3	1	110	1	0	0	0	0	1	0	0	0	14016	942	33	1	6201	1	SEC16A	9	139371076	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6739900	139371076	1842355	185	16431										
C8G	733	genome.wustl.edu	37	chr9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgccccagcccgagacgcccGaggggctgtgcacgtggttg	16	14	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642																																																	0													22	24	23					9																	139840549		2201	4298	6499	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.359G>A	9.37:g.139840549G>A	ENSP00000224181:p.Arg120Gln		Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin	p.R120Q	ENST00000224181.3	37	c.359	CCDS7017.1	9	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531948	0.45073	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.22336	2.84;1.96	4.15	2.21	0.28008	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.629773	0.15142	N	0.278225	T	0.24392	0.0591	M	0.72479	2.2	0.09310	N	1	D	0.71674	0.998	P	0.47786	0.557	T	0.14531	-1.0469	10	0.13470	T	0.59	-7.6118	7.2129	0.25943	0.0928:0.0:0.7377:0.1695	.	120	P07360	CO8G_HUMAN	Q	120	ENSP00000360697:R120Q;ENSP00000224181:R120Q	ENSP00000224181:R120Q	R	+	2	0	C8G	138960370	0.001000	0.12720	0.029000	0.17559	0.210000	0.24377	0.750000	0.26334	0.459000	0.27016	0.561000	0.74099	CGA	C8G	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.642	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C8G	HGNC	protein_coding	OTTHUMT00000055178.1	G			139840549	1	no_errors	ENST00000224181	ensembl	human	known	70_37	missense	SNP	0.015	A	A	139840549	G	A	139840549	3	1	110	1	0	0	0	0	1	0	0	0	2423	1058	37	1	373	1	C8G	9	139840549	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	469473	139840549	1372882	186	16432										
ARRDC1	92714	genome.wustl.edu	37	chr9	140508900	140508900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcggccctgccgggctgcagCctcatccacatcgactacta	9	17	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:140508900C>T	ENST00000371421.4	+	6	832	c.768C>T	c.(766-768)agC>agT	p.S256S	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	256						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CGGGCTGCAGCCTCATCCACA	0.682																																																	0													58	69	65					9																	140508900		2200	4300	6500	SO:0001819	synonymous_variant	92714			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.768C>T	9.37:g.140508900C>T				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.S256	ENST00000371421.4	37	c.768	CCDS7049.1	9																																																																																			ARRDC1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.682	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC1	HGNC	protein_coding	OTTHUMT00000055358.1	C	NM_152285		140508900	1	no_errors	ENST00000371421	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140508900	C	T	140508900	2	4	110	1	0	0	0	0	0	0	0	1	983	738	26	4		4	ARRDC1	9	140508900	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	668351	140508900	704531	187	16433										
CACNA1B	774	genome.wustl.edu	37	chr9	140954116	140954116	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttttctctagaactatttcaGagatgcctggaatgtctttg	8	7	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:140954116G>C	ENST00000371372.1	+	31	4740	c.4595G>C	c.(4594-4596)aGa>aCa	p.R1532T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1532T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1533T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R728T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1533T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1532T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1532					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTATTTCAGAGATGCCTGG	0.423																																																	0													174	167	169					9																	140954116		1894	4120	6014	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4595G>C	9.37:g.140954116G>C	ENSP00000360423:p.Arg1532Thr		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1533T	ENST00000371372.1	37	c.4598	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287521	0.59976	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.5	5.5	0.81552	.	0.048667	0.85682	D	0.000000	D	0.98880	0.9621	M	0.62088	1.915	0.53005	D	0.999961	B;D;D	0.76494	0.151;0.999;0.999	B;D;D	0.75020	0.046;0.985;0.985	D	0.99201	1.0873	10	0.40728	T	0.16	.	19.8114	0.96547	0.0:0.0:1.0:0.0	.	1532;1533;1532	B1AQK4;B1AQK7;B1AQK6	.;.;.	T	1532;1532;728;1532;1533;1533	ENSP00000360423:R1532T;ENSP00000277551:R1532T;ENSP00000277549:R728T;ENSP00000360414:R1532T;ENSP00000360408:R1533T;ENSP00000360406:R1533T	ENSP00000277549:R728T	R	+	2	0	CACNA1B	140073937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.932000	0.70121	2.764000	0.94973	0.555000	0.69702	AGA	CACNA1B	-	pfam_Ion_trans_dom		0.423	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140954116	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140954116	G	C	140954116	3	2	110	1	0	0	0	0	1	0	0	0	2544	942	33	1	4717	1	CACNA1B	9	140954116	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	445216	140954116	259315	188	16434										
C10orf18	54906	genome.wustl.edu	37	chr10	5782322	5782322	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtctgcccgtgtgaaaaaatCttcttgctctcgtatagtgc	9	10	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:5782322C>A	ENST00000328090.5	+	13	2814	c.2189C>A	c.(2188-2190)tCt>tAt	p.S730Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	730																	GTGAAAAAATCTTCTTGCTCT	0.473																																																	0													74	71	72					10																	5782322		1929	4134	6063	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2189C>A	10.37:g.5782322C>A	ENSP00000328426:p.Ser730Tyr		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.S730Y	ENST00000328090.5	37	c.2189	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277924	0.00254	.	.	ENSG00000108021	ENST00000328090	T	0.04406	3.63	5.63	1.97	0.26223	.	0.828280	0.10744	N	0.639083	T	0.04679	0.0127	L	0.44542	1.39	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.43540	-0.9385	10	0.33940	T	0.23	.	4.9799	0.14160	0.0:0.2298:0.1453:0.6249	.	730	Q5VWN6	F208B_HUMAN	Y	730	ENSP00000328426:S730Y	ENSP00000328426:S730Y	S	+	2	0	C10orf18	5822328	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.861000	0.27885	0.084000	0.17077	-0.469000	0.05056	TCT	FAM208B	-	NULL		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5782322	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5782322	C	A	5782322	3	1	110	1	0	0	0	0	1	0	0	0	1600	913	32	3	2227	3	C10orf18	10	5782322	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09		5782322	129752425	189	16435										
SUPV3L1	6832	genome.wustl.edu	37	chr10	70940132	70940132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagccatctgctctgcccttCgtccccactttgggcccttt	7	18	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:70940132C>T	ENST00000359655.4	+	1	145	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	29					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCTGCCCTTCGTCCCCACTT	0.657																																																	0													40	44	43					10																	70940132		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.85C>T	10.37:g.70940132C>T	ENSP00000352678:p.Arg29Cys		A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.R29C	ENST00000359655.4	37	c.85	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355291	0.61293	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.36520	1.37;1.25	5.78	3.88	0.44766	.	0.066963	0.64402	D	0.000013	T	0.36552	0.0971	L	0.38175	1.15	0.34448	D	0.700332	D	0.76494	0.999	P	0.47528	0.549	T	0.54754	-0.8246	10	0.87932	D	0	-2.0748	15.1412	0.72612	0.0:0.5107:0.4893:0.0	.	29	Q8IYB8	SUV3_HUMAN	C	29	ENSP00000352678:R29C;ENSP00000409072:R29C	ENSP00000352678:R29C	R	+	1	0	SUPV3L1	70610138	0.846000	0.29590	0.185000	0.23176	0.518000	0.34316	0.862000	0.27899	0.740000	0.32651	0.655000	0.94253	CGT	SUPV3L1	-	NULL		0.657	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	C	NM_003171		70940132	1	no_errors	ENST00000359655	ensembl	human	known	70_37	missense	SNP	0.490	T	T	70940132	C	T	70940132	3	4	110	1	0	0	0	0	1	0	0	0	15432	884	31	1	87	1	SUPV3L1	10	70940132	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	65157810	70940132	64594615	190	16436										
CDHR1	92211	genome.wustl.edu	37	chr10	85968517	85968517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaattcaacttgcagctggtGggacccaggggcatcttccg	12	11	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:85968517G>A	ENST00000372117.3	+	12	1303	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	CDHR1_ENST00000332904.3_Silent_p.V400V|CDHR1_ENST00000440770.2_Silent_p.V159V	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCAGCTGGTGGGACCCAGGG	0.438																																																	0													80	78	78					10																	85968517		2203	4300	6503	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1200G>A	10.37:g.85968517G>A			Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V400	ENST00000372117.3	37	c.1200	CCDS7372.1	10																																																																																			CDHR1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	G	NM_033100		85968517	1	no_errors	ENST00000372117	ensembl	human	known	70_37	silent	SNP	1.000	A	A	85968517	G	A	85968517	2	1	110	1	0	0	0	0	0	0	0	1	3123	1335	47	4		4	CDHR1	10	85968517	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	15028385	85968517	49566230	191	16437										
HTR7	3363	genome.wustl.edu	37	chr10	92508659	92508659	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttcatgcatgcctgcagctGagagcttccggttgatattc	10	11	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:92508659G>C	ENST00000336152.3	-	2	1258	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	HTR7_ENST00000371719.2_Nonsense_Mutation_p.S411*|HTR7_ENST00000371721.3_Nonsense_Mutation_p.S411*|HTR7_ENST00000277874.6_Nonsense_Mutation_p.S411*	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	411					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCTGCAGCTGAGAGCTTCCG	0.498																																																	0													117	124	121					10																	92508659		2203	4300	6503	SO:0001587	stop_gained	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1232C>G	10.37:g.92508659G>C	ENSP00000337949:p.Ser411*		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.S411*	ENST00000336152.3	37	c.1232	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.179761	0.94846	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7045	0.96068	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000277874:S411X	S	-	2	0	HTR7	92498639	1.000000	0.71417	0.937000	0.37676	0.687000	0.40016	9.476000	0.97823	2.664000	0.90586	0.650000	0.86243	TCA	HTR7	-	prints_5HT_7_rcpt		0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	G	NM_000872		92508659	-1	no_errors	ENST00000336152	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	92508659	G	C	92508659	4	2	110	1	0	0	0	0	0	1	0	0	7472	1294	45	1	223	1	HTR7	10	92508659	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6540142	92508659	43026088	192	16438										
SBF2	81846	genome.wustl.edu	37	chr11	9867227	9867227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ataacggaacttcatcagctGtttcttaaagatctctacta	5	9	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:9867227G>A	ENST00000256190.8	-	24	3132	c.2995C>T	c.(2995-2997)Cag>Tag	p.Q999*	RP11-1H15.2_ENST00000533659.1_RNA|RNU7-28P_ENST00000516759.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	999					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCATCAGCTGTTTCTTAAAG	0.363																																																	0													183	191	189					11																	9867227		2201	4294	6495	SO:0001587	stop_gained	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2995C>T	11.37:g.9867227G>A	ENSP00000256190:p.Gln999*		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.Q999*	ENST00000256190.8	37	c.2995	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	43	10.310137	0.99380	.	.	ENSG00000133812	ENST00000256190	.	.	.	6.03	6.03	0.97812	.	0.157289	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	999	.	ENSP00000256190:Q999X	Q	-	1	0	SBF2	9823803	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	9.459000	0.97638	2.861000	0.98227	0.655000	0.94253	CAG	SBF2	-	NULL		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		9867227	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	9867227	G	A	9867227	4	1	110	1	0	0	0	0	0	1	0	0	13889	1386	48	4	2622	4	SBF2	11	9867227	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		9867227	125139289	193	16439										
SOX6	55553	genome.wustl.edu	37	chr11	16119218	16119218	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	attgttgatggaatgaactgTacggggtagttatcacctgt	12	5	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:16119218T>C	ENST00000352083.6	-	8	992	c.915A>G	c.(913-915)gtA>gtG	p.V305V	SOX6_ENST00000316399.6_Silent_p.V305V|SOX6_ENST00000528429.1_Silent_p.V305V|SOX6_ENST00000396356.3_Silent_p.V305V|SOX6_ENST00000527619.1_Silent_p.V308V|SOX6_ENST00000528252.1_Silent_p.V305V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	305					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAATGAACTGTACGGGGTAGT	0.468																																																	0													113	111	111					11																	16119218		2200	4294	6494	SO:0001819	synonymous_variant	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.915A>G	11.37:g.16119218T>C			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V305	ENST00000352083.6	37	c.915		11																																																																																			SOX6	-	NULL		0.468	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	T	NM_033326		16119218	-1	no_errors	ENST00000352083	ensembl	human	known	70_37	silent	SNP	1.000	C	C	16119218	T	C	16119218	2	2	110	1	0	0	0	0	0	0	0	1	14985	1625	57	5		5	SOX6	11	16119218	Silent	SNP	T	TCGA-EK-A2RJ-01A-11D-A18J-09	6251991	16119218	118887298	194	16440										
GPR44	11251	genome.wustl.edu	37	chr11	60620887	60620887	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atggaggagtgcagtttgcaGaaggtggtgcccagctccca	15	9	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:60620887G>A	ENST00000332539.4	-	2	420	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	103					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	GCAGTTTGCAGAAGGTGGTGC	0.632																																																	0													33	28	29					11																	60620887		2198	4295	6493	SO:0001819	synonymous_variant	11251			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.309C>T	11.37:g.60620887G>A			O94765|Q4QRI6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt	p.F103	ENST00000332539.4	37	c.309	CCDS7994.1	11																																																																																			PTGDR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.632	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR2	HGNC	protein_coding	OTTHUMT00000396328.1	G	NM_004778		60620887	-1	no_errors	ENST00000332539	ensembl	human	known	70_37	silent	SNP	1.000	A	A	60620887	G	A	60620887	2	1	110	1	0	0	0	0	0	0	0	1	6714	933	33	1		1	GPR44	11	60620887	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	44501669	60620887	74385629	195	16441										
STX5	6811	genome.wustl.edu	37	chr11	62592575	62592575	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aactgctctctccggctcctCtgctgcttcaggttctgggg	11	14	4	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:62592575C>G	ENST00000294179.3	-	8	765	c.612G>C	c.(610-612)caG>caC	p.Q204H	STX5_ENST00000541317.1_Missense_Mutation_p.Q108H|STX5_ENST00000394690.1_Missense_Mutation_p.Q150H|STX5_ENST00000377897.4_Missense_Mutation_p.Q204H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	204					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCGGCTCCTCTGCTGCTTCA	0.587																																																	0													46	53	50					11																	62592575		2201	4299	6500	SO:0001583	missense	6811			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.612G>C	11.37:g.62592575C>G	ENSP00000294179:p.Gln204His		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.Q204H	ENST00000294179.3	37	c.612	CCDS8038.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.175199|3.175199	0.57692|0.57692	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317|ENST00000431400	T;T;T;T|.	0.24538|.	1.85;1.85;1.85;1.85|.	5.41|5.41	4.5|4.5	0.54988|0.54988	t-SNARE (1);|.	0.123240|.	0.64402|.	D|.	0.000008|.	T|T	0.77164|0.77164	0.4090|0.4090	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.979|.	T|T	0.80065|0.80065	-0.1538|-0.1538	10|5	0.44086|.	T|.	0.13|.	-3.9175|-3.9175	11.965|11.965	0.53029|0.53029	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	204;204|.	F8W8Q9;Q13190|.	.;STX5_HUMAN|.	H|T	204;204;150;108|59	ENSP00000367129:Q204H;ENSP00000294179:Q204H;ENSP00000378182:Q150H;ENSP00000441428:Q108H|.	ENSP00000294179:Q204H|.	Q|R	-|-	3|2	2|0	STX5|STX5	62349151|62349151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	3.562000|3.562000	0.53777|0.53777	1.533000|1.533000	0.49186|0.49186	-0.140000|-0.140000	0.14226|0.14226	CAG|AGA	STX5	-	superfamily_t-SNARE		0.587	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX5	HGNC	protein_coding	OTTHUMT00000290113.1	C	NM_003164		62592575	-1	no_errors	ENST00000294179	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62592575	C	G	62592575	3	3	110	1	0	0	0	0	1	0	0	0	15378	912	32	1	471	1	STX5	11	62592575	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1971688	62592575	72413941	196	16442										
CHRM1	1128	genome.wustl.edu	37	chr11	62678196	62678196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agctcaggggccgagtcacgGagaagtagcggtcaaagctg	16	9	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:62678196G>T	ENST00000306960.3	-	2	918	c.377C>A	c.(376-378)tCc>tAc	p.S126Y	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	126					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CCGAGTCACGGAGAAGTAGCG	0.632																																																	0													54	52	53					11																	62678196		2201	4298	6499	SO:0001583	missense	1128			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.377C>A	11.37:g.62678196G>T	ENSP00000306490:p.Ser126Tyr		Q96RH1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.S126Y	ENST00000306960.3	37	c.377	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800902	0.70567	.	.	ENSG00000168539	ENST00000306960;ENST00000543973;ENST00000536524	T;T;T	0.38401	1.14;1.14;1.14	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.55369	0.1916	L	0.56199	1.76	0.50171	D	0.999859	D	0.76494	0.999	D	0.83275	0.996	T	0.57700	-0.7766	10	0.72032	D	0.01	-17.1125	15.321	0.74120	0.0:0.0:1.0:0.0	.	126	P11229	ACM1_HUMAN	Y	126	ENSP00000306490:S126Y;ENSP00000441188:S126Y;ENSP00000444482:S126Y	ENSP00000306490:S126Y	S	-	2	0	CHRM1	62434772	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	3.910000	0.56371	2.483000	0.83821	0.563000	0.77884	TCC	CHRM1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn		0.632	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1	G	NM_000738		62678196	-1	no_errors	ENST00000306960	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62678196	G	T	62678196	3	4	110	1	0	0	0	0	1	0	0	0	3381	1174	41	3	1009	3	CHRM1	11	62678196	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	85621	62678196	72328320	197	16443										
PLCB3	5331	genome.wustl.edu	37	chr11	64027557	64027557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atggggaggaggtagggcttGagaagcccagcctggagcct	18	8	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:64027557G>C	ENST00000540288.1	+	14	1685	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q	PLCB3_ENST00000279230.6_Missense_Mutation_p.E528Q|PLCB3_ENST00000325234.5_Missense_Mutation_p.E461Q	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	528					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGTAGGGCTTGAGAAGCCCAG	0.627																																																	0													44	45	45					11																	64027557		2201	4296	6497	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1582G>C	11.37:g.64027557G>C	ENSP00000443631:p.Glu528Gln		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E528Q	ENST00000540288.1	37	c.1582	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470698	0.26423	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.22336	2.1;2.1;1.96	4.93	4.93	0.64822	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	1.597730	0.03124	N	0.164210	T	0.41650	0.1168	L	0.47716	1.5	0.51012	D	0.9999	D;D	0.69078	0.997;0.985	D;P	0.63957	0.92;0.773	T	0.07770	-1.0755	10	0.20046	T	0.44	.	14.3607	0.66768	0.0:0.0:1.0:0.0	.	461;528	G5E960;Q01970	.;PLCB3_HUMAN	Q	528;528;461	ENSP00000279230:E528Q;ENSP00000443631:E528Q;ENSP00000324660:E461Q	ENSP00000279230:E528Q	E	+	1	0	PLCB3	63784133	0.996000	0.38824	0.960000	0.40013	0.060000	0.15804	3.059000	0.49947	2.679000	0.91253	0.561000	0.74099	GAG	PLCB3	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl		0.627	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	G			64027557	1	no_errors	ENST00000279230	ensembl	human	known	70_37	missense	SNP	0.977	C	C	64027557	G	C	64027557	3	2	110	1	0	0	0	0	1	0	0	0	12053	1291	45	1	1636	1	PLCB3	11	64027557	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1349361	64027557	70978959	198	16444										
PLCB3	5331	genome.wustl.edu	37	chr11	64027604	64027604	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctctgggtgacgagggcctGaaccgaggcccctatgttct	13	12	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:64027604G>C	ENST00000540288.1	+	14	1732	c.1629G>C	c.(1627-1629)ctG>ctC	p.L543L	PLCB3_ENST00000279230.6_Silent_p.L543L|PLCB3_ENST00000325234.5_Silent_p.L476L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	543					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACGAGGGCCTGAACCGAGGCC	0.587																																																	0													74	69	71					11																	64027604		2200	4296	6496	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1629G>C	11.37:g.64027604G>C			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L543	ENST00000540288.1	37	c.1629	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl		0.587	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	G			64027604	1	no_errors	ENST00000279230	ensembl	human	known	70_37	silent	SNP	0.000	C	C	64027604	G	C	64027604	2	2	110	1	0	0	0	0	0	0	0	1	12053	1277	45	1		1	PLCB3	11	64027604	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	47	64027604	70978912	199	16445										
MEN1	4221	genome.wustl.edu	37	chr11	64577150	64577150	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctccaacctgtgatgaagctGaagagggactggatgtgggc	15	8	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:64577150G>A	ENST00000337652.1	-	2	935	c.432C>T	c.(430-432)ttC>ttT	p.F144F	MEN1_ENST00000377326.3_Silent_p.F144F|MEN1_ENST00000443283.1_Silent_p.F144F|MEN1_ENST00000377313.1_Silent_p.F144F|MEN1_ENST00000315422.4_Silent_p.F144F|MEN1_ENST00000394376.1_Silent_p.F144F|MEN1_ENST00000312049.6_Silent_p.F144F|MEN1_ENST00000377316.2_Silent_p.F144F|MEN1_ENST00000394374.2_Silent_p.F144F|MEN1_ENST00000377321.1_Silent_p.F144F	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	144			F -> V (in MEN1). {ECO:0000269|PubMed:15714081}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGATGAAGCTGAAGAGGGACT	0.512			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0			GRCh37	CX055790	MEN1	X							143	147	146					11																	64577150		2201	4297	6498	SO:0001819	synonymous_variant	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.432C>T	11.37:g.64577150G>A			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Menin	p.F144	ENST00000337652.1	37	c.432	CCDS8083.1	11																																																																																			MEN1	-	pfam_Menin		0.512	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	HGNC	protein_coding	OTTHUMT00000143881.1	G			64577150	-1	no_errors	ENST00000337652	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64577150	G	A	64577150	2	1	110	1	0	0	0	0	0	0	0	1	9495	1281	45	1		1	MEN1	11	64577150	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	549546	64577150	70429366	200	16446										
KAT5	10524	genome.wustl.edu	37	chr11	65481258	65481258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcggcagaatggagccgcccGtagggcagtggcagcccagc	16	13	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:65481258G>A	ENST00000377046.3	+	7	802	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KAT5_ENST00000341318.4_Missense_Mutation_p.R210H|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.R158H|KAT5_ENST00000352980.4_Missense_Mutation_p.R125H	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	177					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGAGCCGCCCGTAGGGCAGTG	0.532																																																	0													28	26	26					11																	65481258		2200	4296	6496	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.530G>A	11.37:g.65481258G>A	ENSP00000366245:p.Arg177His		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.R210H	ENST00000377046.3	37	c.629	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815345	0.50527	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.49139	0.87;0.92;0.86;0.92;0.86;0.79	5.28	5.28	0.74379	.	0.204055	0.42821	D	0.000642	T	0.51719	0.1691	L	0.52573	1.65	0.80722	D	1	P;B;D;B	0.61697	0.902;0.117;0.99;0.071	B;B;P;B	0.48982	0.264;0.017;0.597;0.008	T	0.52563	-0.8559	10	0.46703	T	0.11	-8.359	16.395	0.83601	0.0:0.0:1.0:0.0	.	158;210;125;177	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	H	177;125;210;158;119;171	ENSP00000366245:R177H;ENSP00000344955:R125H;ENSP00000340330:R210H;ENSP00000434765:R158H;ENSP00000436000:R119H;ENSP00000436012:R171H	ENSP00000340330:R210H	R	+	2	0	KAT5	65237834	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	6.816000	0.75247	2.472000	0.83506	0.561000	0.74099	CGT	KAT5	-	NULL		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	G	NM_006388		65481258	1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65481258	G	A	65481258	3	1	110	1	0	0	0	0	1	0	0	0	8003	1145	40	2	651	2	KAT5	11	65481258	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	904108	65481258	69525258	201	16447										
CTTN	2017	genome.wustl.edu	37	chr11	70275181	70275181	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagcaaaacaagtaacatcaGagctaactttgaaaacctcg	6	10	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:70275181G>C	ENST00000301843.8	+	14	1258	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	CTTN_ENST00000538675.1_Missense_Mutation_p.R35T|CTTN_ENST00000376561.3_Missense_Mutation_p.R314T|CTTN_ENST00000346329.3_Missense_Mutation_p.R314T	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	351					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGTAACATCAGAGCTAACTTT	0.567																																																	0													156	150	152					11																	70275181		2200	4294	6494	SO:0001583	missense	2017			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1052G>C	11.37:g.70275181G>C	ENSP00000301843:p.Arg351Thr		Q8N707|Q96H99	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.R351T	ENST00000301843.8	37	c.1052	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	g	17.82	3.483215	0.63962	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000527962;ENST00000498223;ENST00000538675;ENST00000529736	T;T;T;T;T;T;T	0.69175	1.38;1.39;1.3;0.39;-0.38;1.62;1.24	4.6	4.6	0.57074	.	0.111900	0.53938	D	0.000049	T	0.81791	0.4897	M	0.74647	2.275	0.42198	D	0.991756	D;P;D;D	0.89917	1.0;0.917;0.991;0.998	D;P;P;D	0.83275	0.996;0.584;0.821;0.954	D	0.84481	0.0605	10	0.62326	D	0.03	-12.3371	17.8382	0.88707	0.0:0.0:1.0:0.0	.	35;314;351;314	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	T	314;351;314;35;35;35;8	ENSP00000317189:R314T;ENSP00000301843:R351T;ENSP00000365745:R314T;ENSP00000433552:R35T;ENSP00000434669:R35T;ENSP00000439762:R35T;ENSP00000431421:R8T	ENSP00000301843:R351T	R	+	2	0	CTTN	69952829	1.000000	0.71417	0.412000	0.26496	0.674000	0.39518	5.989000	0.70587	2.287000	0.76781	0.651000	0.88453	AGA	CTTN	-	NULL		0.567	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2	G	NM_138565		70275181	1	no_errors	ENST00000301843	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70275181	G	C	70275181	3	2	110	1	0	0	0	0	1	0	0	0	4049	942	33	1	1098	1	CTTN	11	70275181	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4793923	70275181	64731335	202	16448										
INPPL1	3636	genome.wustl.edu	37	chr11	71944780	71944780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agttacctcccagttcatctCcaagaaaggtgactgttcca	7	12	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:71944780C>T	ENST00000298229.2	+	19	2408	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	INPPL1_ENST00000541756.1_Missense_Mutation_p.S493F|INPPL1_ENST00000538751.1_Missense_Mutation_p.S493F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	735					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTTCATCTCCAAGAAAGGT	0.517																																																	0													172	151	158					11																	71944780		2200	4293	6493	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2204C>T	11.37:g.71944780C>T	ENSP00000298229:p.Ser735Phe		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.S735F	ENST00000298229.2	37	c.2204	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	c	30	5.056605	0.93793	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.97209	-3.2;-4.29;-4.29	5.08	5.08	0.68730	Inositol polyphosphate-related phosphatase (1);	0.059543	0.64402	D	0.000002	D	0.97207	0.9087	M	0.61703	1.905	0.80722	D	1	D	0.60160	0.987	P	0.53809	0.735	D	0.97125	0.9814	10	0.48119	T	0.1	.	17.409	0.87480	0.0:1.0:0.0:0.0	.	735	O15357	SHIP2_HUMAN	F	735;493;493	ENSP00000298229:S735F;ENSP00000446360:S493F;ENSP00000444619:S493F	ENSP00000298229:S735F	S	+	2	0	INPPL1	71622428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.425000	0.80255	2.510000	0.84645	0.563000	0.77884	TCC	INPPL1	-	smart_IPPc		0.517	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	C	NM_001567		71944780	1	no_errors	ENST00000298229	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71944780	C	T	71944780	3	4	110	1	0	0	0	0	1	0	0	0	7781	855	30	1	2278	1	INPPL1	11	71944780	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1669599	71944780	63061736	203	16449										
FAM168A	23201	genome.wustl.edu	37	chr11	73122475	73122475	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgctgggggtaggcacttctGattggatacatggccgtctg	15	8	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:73122475G>C	ENST00000064778.4	-	6	695	c.411C>G	c.(409-411)atC>atG	p.I137M	FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000542598.1_RNA|RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000356467.4_Missense_Mutation_p.I128M			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	137										endometrium(3)|kidney(1)|lung(1)	5						AGGCACTTCTGATTGGATACA	0.577																																																	0													96	93	94					11																	73122475		1884	4095	5979	SO:0001583	missense	23201			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"tongue cancer chemotherapy resistance-associated protein 1"		"KIAA0280"	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.411C>G	11.37:g.73122475G>C	ENSP00000064778:p.Ile137Met		A2ICY2|A2ID81|Q86UG2	Missense_Mutation	SNP	NULL	p.I137M	ENST00000064778.4	37	c.411		11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047209	0.75846	.	.	ENSG00000054965	ENST00000064778;ENST00000356467	.	.	.	5.73	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.57899	0.981;0.981	P;P	0.50934	0.654;0.654	T	0.60151	-0.7319	9	0.45353	T	0.12	.	14.7266	0.69349	0.0812:0.0:0.9188:0.0	.	137;128	Q92567;Q92567-2	F168A_HUMAN;.	M	137;128	.	ENSP00000064778:I137M	I	-	3	3	FAM168A	72800123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.710000	0.92621	0.650000	0.86243	ATC	FAM168A	-	NULL		0.577	FAM168A-003	KNOWN	basic	protein_coding	FAM168A	HGNC	protein_coding	OTTHUMT00000397424.1	G	NM_015159		73122475	-1	no_errors	ENST00000064778	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73122475	G	C	73122475	3	2	110	1	0	0	0	0	1	0	0	0	5500	1280	45	1	335	1	FAM168A	11	73122475	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1177695	73122475	61884041	204	16450										
RAB6A	5870	genome.wustl.edu	37	chr11	73431902	73431902	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	attactcactgttcgatcctCcaagtacatagtttttgata	5	9	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:73431902C>G	ENST00000336083.3	-	3	627	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	RP11-456I15.2_ENST00000538624.1_RNA|RAB6A_ENST00000310653.6_Missense_Mutation_p.E58Q|RAB6A_ENST00000536566.1_Missense_Mutation_p.E25Q|RAB6A_ENST00000541588.1_Missense_Mutation_p.E58Q	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	58					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						GTTCGATCCTCCAAGTACATA	0.328																																																	0													114	110	112					11																	73431902		2199	4293	6492	SO:0001583	missense	5870			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.172G>C	11.37:g.73431902C>G	ENSP00000336850:p.Glu58Gln		A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E58Q	ENST00000336083.3	37	c.172	CCDS8224.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.886847|4.886847	0.91814|0.91814	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000536566;ENST00000541588;ENST00000539750;ENST00000535748|ENST00000541973;ENST00000400470	T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45677|0.45677	0.1354|0.1354	N|N	0.05259|0.05259	-0.085|-0.085	0.58432|0.58432	D|D	0.999999|0.999999	P;B;B|.	0.42649|.	0.786;0.215;0.441|.	P;B;B|.	0.52031|.	0.688;0.267;0.111|.	T|T	0.39522|0.39522	-0.9610|-0.9610	10|5	0.72032|.	D|.	0.01|.	-3.9821|-3.9821	18.6642|18.6642	0.91483|0.91483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	58;58;58|.	Q1W5D8;P20340;P20340-2|.	.;RAB6A_HUMAN;.|.	Q|C	58;58;58;25;58;58;58|50;49	ENSP00000311449:E58Q;ENSP00000336850:E58Q;ENSP00000437863:E25Q;ENSP00000445350:E58Q|.	ENSP00000311449:E58Q|.	E|W	-|-	1|3	0|0	RAB6A|RAB6A	73109550|73109550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.112000|7.112000	0.77086|0.77086	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAG|TGG	RAB6A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.328	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	HGNC	protein_coding	OTTHUMT00000259241.2	C			73431902	-1	no_errors	ENST00000310653	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73431902	C	G	73431902	3	3	110	1	0	0	0	0	1	0	0	0	12981	864	30	1	588	1	RAB6A	11	73431902	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	309427	73431902	61574614	205	16451										
GDPD4	220032	genome.wustl.edu	37	chr11	76956345	76956345	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccagatgttgctcgattttaGaggcaaggatcacgcttact	10	9	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:76956345G>C	ENST00000376217.2	-	11	1317	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	GDPD4_ENST00000315938.4_Missense_Mutation_p.S356C			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	356	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGATTTTAGAGGCAAGGAT	0.433																																																	0													198	175	183					11																	76956345		2200	4292	6492	SO:0001583	missense	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1067C>G	11.37:g.76956345G>C	ENSP00000365390:p.Ser356Cys		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S356C	ENST00000376217.2	37	c.1067		11	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652194	0.29336	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.11712	2.75;2.75	4.78	3.86	0.44501	.	0.325326	0.33534	N	0.004803	T	0.32675	0.0837	M	0.83774	2.66	0.20873	N	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.03761	-1.1006	10	0.72032	D	0.01	-30.3076	10.5239	0.44936	0.0951:0.0:0.9049:0.0	.	356	Q6W3E5-2	.	C	356	ENSP00000365390:S356C;ENSP00000320815:S356C	ENSP00000320815:S356C	S	-	2	0	GDPD4	76633993	0.727000	0.28069	0.975000	0.42487	0.100000	0.18952	3.461000	0.53035	2.635000	0.89317	0.655000	0.94253	TCT	GDPD4	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.433	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	G	NM_182833		76956345	-1	no_errors	ENST00000376217	ensembl	human	known	70_37	missense	SNP	0.381	C	C	76956345	G	C	76956345	3	2	110	1	0	0	0	0	1	0	0	0	6345	942	33	1	519	1	GDPD4	11	76956345	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3524443	76956345	58050171	206	16452										
PRCP	5547	genome.wustl.edu	37	chr11	82564297	82564297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	accaacatagctttcagttcCtcagccacatcccacatgaa	4	15	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:82564297C>T	ENST00000313010.3	-	3	527	c.333G>A	c.(331-333)gaG>gaA	p.E111E	PRCP_ENST00000535099.1_Silent_p.E6E|PRCP_ENST00000393399.2_Silent_p.E132E	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	111					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTTTCAGTTCCTCAGCCACAT	0.383																																																	0													113	95	101					11																	82564297		2203	4300	6503	SO:0001819	synonymous_variant	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.333G>A	11.37:g.82564297C>T			A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	pfam_Peptidase_S28	p.E132	ENST00000313010.3	37	c.396	CCDS8262.1	11																																																																																			PRCP	-	pfam_Peptidase_S28		0.383	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	C	NM_005040		82564297	-1	no_errors	ENST00000393399	ensembl	human	known	70_37	silent	SNP	1.000	T	T	82564297	C	T	82564297	2	4	110	1	0	0	0	0	0	0	0	1	12476	680	24	4		4	PRCP	11	82564297	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5607952	82564297	52442219	207	16453										
PCF11	51585	genome.wustl.edu	37	chr11	82877695	82877695	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaaccaaaggagaatgtaGaaaactggcaaagttccaag	10	7	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:82877695G>A	ENST00000298281.4	+	5	2208	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	586					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAGAATGTAGAAAACTGGCA	0.393																																																	0													67	67	67					11																	82877695		1810	4032	5842	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1756G>A	11.37:g.82877695G>A	ENSP00000298281:p.Glu586Lys		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.E586K	ENST00000298281.4	37	c.1756	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678085	0.88542	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.50277	1.74;0.77;0.75	6.07	6.07	0.98685	.	0.095438	0.46145	D	0.000315	T	0.54481	0.1861	L	0.29908	0.895	0.51767	D	0.999931	D;P	0.67145	0.996;0.457	P;B	0.57620	0.824;0.129	T	0.41945	-0.9480	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	586;586	E9PQ01;O94913	.;PCF11_HUMAN	K	586	ENSP00000298281:E586K;ENSP00000434540:E586K;ENSP00000431567:E586K	.	E	+	1	0	PCF11	82555343	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	6.877000	0.75562	2.885000	0.99019	0.655000	0.94253	GAA	PCF11	-	NULL		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	G	NM_015885		82877695	1	no_errors	ENST00000298281	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82877695	G	A	82877695	3	1	110	1	0	0	0	0	1	0	0	0	11597	943	33	1	1774	1	PCF11	11	82877695	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	313398	82877695	52128821	208	16454										
CCDC81	60494	genome.wustl.edu	37	chr11	86126335	86126335	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagaggcgggatttgcaaatGcttcagaggacacaaagaga	13	7	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:86126335G>C	ENST00000445632.2	+	13	1943	c.1671G>C	c.(1669-1671)atG>atC	p.M557I	CCDC81_ENST00000528728.1_Missense_Mutation_p.M292I|CCDC81_ENST00000354755.1_Missense_Mutation_p.M467I|CCDC81_ENST00000278487.3_Missense_Mutation_p.M292I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	557										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATTTGCAAATGCTTCAGAGGA	0.483																																																	0													66	67	66					11																	86126335		2202	4299	6501	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1671G>C	11.37:g.86126335G>C	ENSP00000415528:p.Met557Ile		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd	p.M557I	ENST00000445632.2	37	c.1671	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851169	0.71719	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.56	4.62	0.57501	.	0.326334	0.36374	N	0.002638	T	0.53126	0.1777	M	0.74258	2.255	0.35566	D	0.805108	D;D;D	0.64830	0.992;0.969;0.994	P;P;D	0.63488	0.675;0.825;0.915	T	0.66208	-0.5981	9	.	.	.	-10.3624	15.0768	0.72082	0.0:0.1431:0.8569:0.0	.	292;557;467	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	467;292;557;292	ENSP00000346800:M467I;ENSP00000278487:M292I;ENSP00000415528:M557I;ENSP00000437165:M292I	.	M	+	3	0	CCDC81	85803983	1.000000	0.71417	0.986000	0.45419	0.806000	0.45545	4.019000	0.57181	1.279000	0.44446	0.650000	0.86243	ATG	CCDC81	-	NULL		0.483	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	G	NM_021827		86126335	1	no_errors	ENST00000445632	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86126335	G	C	86126335	3	2	110	1	0	0	0	0	1	0	0	0	2860	1319	46	4	1721	4	CCDC81	11	86126335	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3248640	86126335	48880181	209	16455										
BIRC2	329	genome.wustl.edu	37	chr11	102248819	102248819	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttgtatttattccttgtggtCatctggtagtatgccaggaa	10	6	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:102248819C>G	ENST00000227758.2	+	9	3161	c.1762C>G	c.(1762-1764)Cat>Gat	p.H588D	BIRC2_ENST00000530675.1_Missense_Mutation_p.H539D|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.H567D	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	588					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCCTTGTGGTCATCTGGTAGT	0.403																																																	0													146	135	139					11																	102248819		2203	4299	6502	SO:0001583	missense	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1762C>G	11.37:g.102248819C>G	ENSP00000227758:p.His588Asp		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.H588D	ENST00000227758.2	37	c.1762	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011788	0.93346	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000532672;ENST00000531259	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.94	5.94	0.96194	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	10	0.87932	D	0	-28.4353	20.3501	0.98811	0.0:1.0:0.0:0.0	.	588	Q13490	BIRC2_HUMAN	D	539;588;567;123	ENSP00000431723:H539D;ENSP00000227758:H588D;ENSP00000434979:H567D;ENSP00000436741:H123D	ENSP00000227758:H588D	H	+	1	0	BIRC2	101754029	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.711000	0.84669	2.821000	0.97095	0.655000	0.94253	CAT	BIRC2	-	smart_Znf_RING,pfscan_Znf_RING		0.403	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	C	NM_001166		102248819	1	no_errors	ENST00000227758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102248819	C	G	102248819	3	3	110	1	0	0	0	0	1	0	0	0	1436	826	29	1	1792	1	BIRC2	11	102248819	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	16122484	102248819	32757697	210	16456										
DDI1	414301	genome.wustl.edu	37	chr11	103908011	103908011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagcatgctgctctccaaccCccacgatctgtccctgctca	6	19	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:103908011C>T	ENST00000302259.3	+	1	704	c.461C>T	c.(460-462)cCc>cTc	p.P154L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	154							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCTCCAACCCCCACGATCTG	0.642																																																	0													56	54	55					11																	103908011		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.461C>T	11.37:g.103908011C>T	ENSP00000302805:p.Pro154Leu		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.P154L	ENST00000302259.3	37	c.461	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017694	0.54576	.	.	ENSG00000170967	ENST00000302259	T	0.30182	1.54	5.02	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.83223	2.63	0.80722	D	1	P	0.51653	0.947	P	0.52823	0.71	T	0.59963	-0.7355	10	0.87932	D	0	-32.9285	13.6602	0.62363	0.0:0.8438:0.1562:0.0	.	154	Q8WTU0	DDI1_HUMAN	L	154	ENSP00000302805:P154L	ENSP00000302805:P154L	P	+	2	0	DDI1	103413221	1.000000	0.71417	0.026000	0.17262	0.275000	0.26752	5.447000	0.66606	1.486000	0.48398	-0.150000	0.13652	CCC	DDI1	-	NULL		0.642	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	C	NM_001001711		103908011	1	no_errors	ENST00000302259	ensembl	human	known	70_37	missense	SNP	0.993	T	T	103908011	C	T	103908011	3	4	110	1	0	0	0	0	1	0	0	0	4333	623	22	4	463	4	DDI1	11	103908011	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1659192	103908011	31098505	211	16457										
AMICA1	120425	genome.wustl.edu	37	chr11	118081245	118081245	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgcagtaccaccgccttcttGaacacctggctctccccttt	6	17	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:118081245G>A	ENST00000356289.5	-	4	554	c.381C>T	c.(379-381)ttC>ttT	p.F127F	AMICA1_ENST00000533261.1_Silent_p.F127F|AMICA1_ENST00000292067.7_Silent_p.F117F|AMICA1_ENST00000526620.1_Silent_p.F88F	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	127	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		CCGCCTTCTTGAACACCTGGC	0.517																																																	0													109	89	96					11																	118081245		2200	4296	6496	SO:0001819	synonymous_variant	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.381C>T	11.37:g.118081245G>A			B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.F127	ENST00000356289.5	37	c.381	CCDS41723.1	11																																																																																			AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.517	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	G	NM_153206		118081245	-1	no_errors	ENST00000356289	ensembl	human	known	70_37	silent	SNP	0.929	A	A	118081245	G	A	118081245	2	1	110	1	0	0	0	0	0	0	0	1	574	1281	45	1		1	AMICA1	11	118081245	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	14173234	118081245	16925271	212	16458										
DPAGT1	1798	genome.wustl.edu	37	chr11	118968001	118968001	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgtcaccagctggaggctctCtgccacctggagggaccaga	13	13	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:118968001C>G	ENST00000409993.2	-	10	2563	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	DPAGT1_ENST00000354202.4_Missense_Mutation_p.E338Q|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000432443.2_Missense_Mutation_p.E231Q			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	338					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGGAGGCTCTCTGCCACCTGG	0.453																																																	0													180	177	178					11																	118968001		2200	4295	6495	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1012G>C	11.37:g.118968001C>G	ENSP00000386597:p.Glu338Gln		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	pfam_Glycosyl_transferase_4	p.E338Q	ENST00000409993.2	37	c.1012	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282074	0.23392	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91843	-2.92;-2.92;-2.81	5.38	3.48	0.39840	.	0.255835	0.44285	D	0.000474	D	0.86727	0.6002	L	0.51914	1.62	0.52501	D	0.999956	B;B	0.21821	0.001;0.061	B;B	0.17433	0.004;0.018	T	0.78460	-0.2195	10	0.21540	T	0.41	-11.6706	7.2946	0.26385	0.0:0.7032:0.142:0.1547	.	231;338	E7EW40;Q9H3H5	.;GPT_HUMAN	Q	338;338;231	ENSP00000386597:E338Q;ENSP00000346142:E338Q;ENSP00000404036:E231Q	ENSP00000346142:E338Q	E	-	1	0	DPAGT1	118473211	1.000000	0.71417	0.778000	0.31720	0.700000	0.40528	4.511000	0.60462	0.805000	0.34159	0.655000	0.94253	GAG	DPAGT1	-	NULL		0.453	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2	C	NM_001382		118968001	-1	no_errors	ENST00000354202	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118968001	C	G	118968001	3	3	110	1	0	0	0	0	1	0	0	0	4720	922	32	1	222	1	DPAGT1	11	118968001	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	886756	118968001	16038515	213	16459										
SORL1	6653	genome.wustl.edu	37	chr11	121391423	121391423	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtggaaggattgcaaggagtCtacattgctactctgattaa	11	6	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:121391423C>G	ENST00000260197.7	+	9	1398	c.1269C>G	c.(1267-1269)gtC>gtG	p.V423V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	423					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCAAGGAGTCTACATTGCTA	0.413																																																	0													71	71	71					11																	121391423		2203	4299	6502	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1269C>G	11.37:g.121391423C>G			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V423	ENST00000260197.7	37	c.1269	CCDS8436.1	11																																																																																			SORL1	-	smart_VPS10		0.413	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121391423	1	no_errors	ENST00000260197	ensembl	human	known	70_37	silent	SNP	0.653	G	G	121391423	C	G	121391423	2	3	110	1	0	0	0	0	0	0	0	1	14964	900	32	1		1	SORL1	11	121391423	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2423422	121391423	13615093	214	16460										
C11orf61	79684	genome.wustl.edu	37	chr11	124637152	124637152	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgcggaaagaaaatccctctCtacttctacaaatttgatgt	6	9	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:124637152C>T	ENST00000374979.3	-	4	1608	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	MSANTD2_ENST00000239614.4_Missense_Mutation_p.E482K|RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000526629.1_Missense_Mutation_p.E304K			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	534																	AAATCCCTCTCTACTTCTACA	0.408																																																	0													67	75	72					11																	124637152		2201	4299	6500	SO:0001583	missense	79684			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 61"	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1600G>A	11.37:g.124637152C>T	ENSP00000364118:p.Glu534Lys		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.E534K	ENST00000374979.3	37	c.1600		11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258281	0.80246	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.66	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.76071	0.985;0.987	T	0.71507	-0.4572	9	0.87932	D	0	-5.4881	16.0813	0.81007	0.1349:0.8651:0.0:0.0	.	534;482	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	K	482;534;304	.	ENSP00000239614:E482K	E	-	1	0	C11orf61	124142362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.357000	0.79456	1.389000	0.46526	0.591000	0.81541	GAG	MSANTD2	-	NULL		0.408	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	C	NM_024631		124637152	-1	no_errors	ENST00000374979	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124637152	C	T	124637152	3	4	110	1	0	0	0	0	1	0	0	0	1657	922	32	1	83	1	C11orf61	11	124637152	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3245729	124637152	10369364	215	16461										
THYN1	29087	genome.wustl.edu	37	chr11	134118790	134118790	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agtagctttgtgagcttgatGataggatttgagctcagcca	12	6	1	4	rs202070344		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:134118790G>A	ENST00000341541.3	-	6	1005	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	THYN1_ENST00000392594.3_Missense_Mutation_p.H182Y|THYN1_ENST00000352327.5_Intron|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000392595.2_Missense_Mutation_p.H182Y	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	182						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TGAGCTTGATGATAGGATTTG	0.473													G|||	1	0.000199681	0	0.0014	5008	,	,		21009	0		0	False		,,,				2504	0																0													119	117	118					11																	134118790		2201	4297	6498	SO:0001583	missense	29087			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.544C>T	11.37:g.134118790G>A	ENSP00000341657:p.His182Tyr		Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	pfam_EVE_domain,superfamily_PUA-like_domain	p.H182Y	ENST00000341541.3	37	c.544	CCDS8496.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.375	0.437378	0.12104	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594	.	.	.	5.59	1.52	0.23074	EVE domain (1);PUA-like domain (1);	0.092654	0.85682	N	0.000000	T	0.40743	0.1129	L	0.46614	1.455	0.80722	D	1	B	0.17268	0.021	B	0.22152	0.038	T	0.25606	-1.0127	9	0.02654	T	1	-25.0168	7.0083	0.24848	0.1912:0.0:0.6869:0.122	.	182	Q9P016	THYN1_HUMAN	Y	182	.	ENSP00000341657:H182Y	H	-	1	0	THYN1	133624000	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	2.142000	0.42177	0.294000	0.22547	0.655000	0.94253	CAT	THYN1	-	pfam_EVE_domain,superfamily_PUA-like_domain		0.473	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	G	NM_014174		134118790	-1	no_errors	ENST00000341541	ensembl	human	known	70_37	missense	SNP	0.978	A	A	134118790	G	A	134118790	3	1	110	1	0	0	0	0	1	0	0	0	15916	1290	45	1	141	1	THYN1	11	134118790	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9481638	134118790	887726	216	16462										
KDM5A	5927	genome.wustl.edu	37	chr12	416238	416238	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cggttaaaagcagactgctgGaaactaggtaagtgtcccta	11	8	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:416238G>A	ENST00000399788.2	-	24	4310	c.3948C>T	c.(3946-3948)ttC>ttT	p.F1316F	KDM5A_ENST00000382815.4_Silent_p.F1316F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1316					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGACTGCTGGAAACTAGGTA	0.403			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													154	141	145					12																	416238		1968	4158	6126	SO:0001819	synonymous_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3948C>T	12.37:g.416238G>A			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.F1316	ENST00000399788.2	37	c.3948	CCDS41736.1	12																																																																																			KDM5A	-	NULL		0.403	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		416238	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	silent	SNP	1.000	A	A	416238	G	A	416238	2	1	110	1	0	0	0	0	0	0	0	1	8153	1165	41	1		1	KDM5A	12	416238	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		416238	133435657	217	16463										
KCNA5	3741	genome.wustl.edu	37	chr12	5154962	5154962	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccaggggccggggctggacaGaggagtccagcggaaggtca	19	10	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:5154962G>C	ENST00000252321.3	+	1	1878	c.1649G>C	c.(1648-1650)aGa>aCa	p.R550T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	550					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGGCTGGACAGAGGAGTCCAG	0.632																																																	0													34	39	37					12																	5154962		2203	4300	6503	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1649G>C	12.37:g.5154962G>C	ENSP00000252321:p.Arg550Thr		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R550T	ENST00000252321.3	37	c.1649	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	4.893	0.165912	0.09339	.	.	ENSG00000130037	ENST00000252321	D	0.97505	-4.41	5.1	3.29	0.37713	.	30.287500	0.00397	U	0.000048	D	0.87317	0.6147	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83863	0.0269	10	0.12766	T	0.61	.	5.2201	0.15364	0.0871:0.1845:0.6058:0.1227	.	550	P22460	KCNA5_HUMAN	T	550	ENSP00000252321:R550T	ENSP00000252321:R550T	R	+	2	0	KCNA5	5025223	0.016000	0.18221	0.000000	0.03702	0.970000	0.65996	1.605000	0.36815	0.731000	0.32448	0.561000	0.74099	AGA	KCNA5	-	NULL		0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	G	NM_002234		5154962	1	no_errors	ENST00000252321	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5154962	G	C	5154962	3	2	110	1	0	0	0	0	1	0	0	0	8026	942	33	1	1651	1	KCNA5	12	5154962	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4738724	5154962	128696933	218	16464										
RBP5	83758	genome.wustl.edu	37	chr12	7277327	7277327	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcctcccaggttactatggtCtataggggaaagagggagta	13	7	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:7277327C>G	ENST00000266560.3	-	3	419		c.e3-1		C1RL-AS1_ENST00000541775.1_RNA|C1RL-AS1_ENST00000535078.1_RNA|C1RL-AS1_ENST00000545775.1_RNA	NM_031491.2	NP_113679.1	P29762	RABP1_HUMAN	retinol binding protein 5, cellular						multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Alitretinoin(DB00523)|Tretinoin(DB00755)	TTACTATGGTCTATAGGGGAA	0.537																																																	0													90	91	91					12																	7277327		2203	4300	6503	SO:0001630	splice_region_variant	83758			AY007436	CCDS8574.1	12p13.31	2013-03-01	2001-11-28		ENSG00000139194	ENSG00000139194		"Fatty acid binding protein family"	15847	protein-coding gene	gene with protein product		611866	"retinol-binding protein 5, cellular"			11274389	Standard	NM_031491		Approved	CRBPIII	uc001qsq.3	P82980	OTTHUMG00000168165	ENST00000266560.3:c.253-1G>C	12.37:g.7277327C>G			Q6IAY7|Q8WTV5	Splice_Site	SNP	-	e3-1	ENST00000266560.3	37	c.253-1	CCDS8574.1	12	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838687	0.51057	.	.	ENSG00000139194	ENST00000266560	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2858	0.82720	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBP5	7168601	1.000000	0.71417	0.995000	0.50966	0.663000	0.39108	7.152000	0.77419	2.257000	0.74773	0.455000	0.32223	.	RBP5	-	-		0.537	RBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP5	HGNC	protein_coding	OTTHUMT00000398554.1	C	NM_031491	Intron	7277327	-1	no_errors	ENST00000266560	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	7277327	C	G	7277327	5	3	110	1	0	0	0	0	0	0	1	0	13189	927	32	1	163	1	RBP5	12	7277327	Splice_Site	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2122365	7277327	126574568	219	16465										
CLEC4C	170482	genome.wustl.edu	37	chr12	7882230	7882230	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catcttgcaaattgacttctGaggtacatgacagtgaatgt	9	7	2	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:7882230G>A	ENST00000542353.1	-	7	1094	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.Q171*|CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.Q171*|CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.Q202*	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTGACTTCTGAGGTACATGA	0.403																																																	0													128	116	120					12																	7882230		2203	4300	6503	SO:0001587	stop_gained	170482			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.604C>T	12.37:g.7882230G>A	ENSP00000440428:p.Gln202*		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.Q202*	ENST00000542353.1	37	c.604	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639338	0.67244	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	.	.	.	1.73	-0.446	0.12238	.	.	.	.	.	.	.	.	.	.	.	0.26149	N	0.98017	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	3.7796	0.08674	0.0:0.2746:0.446:0.2794	.	.	.	.	X	202;171;171;202	.	ENSP00000346648:Q171X	Q	-	1	0	CLEC4C	7773497	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	1.953000	0.40352	-0.121000	0.11787	-0.304000	0.09214	CAG	CLEC4C	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.403	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	G	NM_203503		7882230	-1	no_errors	ENST00000360345	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	7882230	G	A	7882230	4	1	110	1	0	0	0	0	0	1	0	0	3518	1299	45	1	41	1	CLEC4C	12	7882230	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	604903	7882230	125969665	220	16466										
EPS8	2059	genome.wustl.edu	37	chr12	15800130	15800130	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttggtccaggtgggatcctCttgtgtaaatgttgctactg	12	8	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:15800130C>G	ENST00000281172.5	-	15	1935	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	EPS8_ENST00000543612.1_Missense_Mutation_p.R500T|EPS8_ENST00000543523.1_Missense_Mutation_p.R500T|EPS8_ENST00000542903.1_Missense_Mutation_p.R240T|EPS8_ENST00000540613.1_Missense_Mutation_p.R240T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	500					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTGGGATCCTCTTGTGTAAAT	0.453																																																	0													154	141	146					12																	15800130		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1499G>C	12.37:g.15800130C>G	ENSP00000281172:p.Arg500Thr		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.R500T	ENST00000281172.5	37	c.1499	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683345	0.29872	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.08102	3.3;3.3;3.3;3.13;3.13	4.08	4.08	0.47627	.	0.246105	0.35291	N	0.003318	T	0.10165	0.0249	L	0.51422	1.61	0.38568	D	0.949872	B	0.29115	0.233	B	0.19148	0.024	T	0.12553	-1.0543	10	0.56958	D	0.05	-21.587	16.8288	0.85938	0.0:1.0:0.0:0.0	.	500	Q12929	EPS8_HUMAN	T	500;500;500;240;240;500	ENSP00000441867:R500T;ENSP00000281172:R500T;ENSP00000442388:R500T;ENSP00000441888:R240T;ENSP00000437806:R240T	ENSP00000281172:R500T	R	-	2	0	EPS8	15691397	1.000000	0.71417	0.586000	0.28679	0.197000	0.23852	5.936000	0.70153	2.270000	0.75569	0.563000	0.77884	AGA	EPS8	-	NULL		0.453	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	C			15800130	-1	no_errors	ENST00000281172	ensembl	human	known	70_37	missense	SNP	0.998	G	G	15800130	C	G	15800130	3	3	110	1	0	0	0	0	1	0	0	0	5206	913	32	1	997	1	EPS8	12	15800130	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	7917900	15800130	118051765	221	16467										
KLHDC5	57542	genome.wustl.edu	37	chr12	27950964	27950964	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agcagagacgtcaccctgtcGaccagcttggaacaccgagt	11	13	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:27950964G>A	ENST00000381271.2	+	3	1694	c.1383G>A	c.(1381-1383)tcG>tcA	p.S461S	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	461					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCACCCTGTCGACCAGCTTGG	0.483																																																	0													137	101	113					12																	27950964		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1383G>A	12.37:g.27950964G>A			Q2VPK1|Q8N334	Silent	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.S461	ENST00000381271.2	37	c.1383	CCDS31763.1	12																																																																																			KLHDC5	-	NULL		0.483	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	G	NM_020782		27950964	1	no_errors	ENST00000381271	ensembl	human	known	70_37	silent	SNP	0.973	A	A	27950964	G	A	27950964	2	1	110	1	0	0	0	0	0	0	0	1	8379	1045	37	1		1	KLHDC5	12	27950964	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	12150834	27950964	105900931	222	16468										
CAPRIN2	65981	genome.wustl.edu	37	chr12	30887963	30887963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttaatgaggtagtcaagttCttttgaaggcaaatacactg	9	6	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:30887963C>G	ENST00000395805.2	-	4	1295	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E250Q|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E250Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E250Q|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E250*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAGTCAAGTTCTTTTGAAGGC	0.373																																																	1	Substitution - Nonsense(1)	large_intestine(1)											169	167	168					12																	30887963		2203	4300	6503	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.748G>C	12.37:g.30887963C>G	ENSP00000379150:p.Glu250Gln			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E250Q	ENST00000395805.2	37	c.748	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533139	0.64972	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	4.72	3.83	0.44106	.	0.378221	0.30011	N	0.010631	T	0.43411	0.1246	L	0.53249	1.67	0.80722	D	1	P;P;D;P;P	0.63880	0.841;0.901;0.993;0.878;0.841	B;P;P;B;B	0.56343	0.405;0.631;0.796;0.376;0.357	T	0.40924	-0.9537	10	0.62326	D	0.03	-7.3822	13.0598	0.59000	0.0:0.9222:0.0:0.0778	.	250;250;250;250;250	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	Q	250;250;250;250;169;47;47;169	ENSP00000298892:E250Q;ENSP00000379150:E250Q;ENSP00000251071:E250Q;ENSP00000391479:E250Q;ENSP00000438010:E169Q;ENSP00000444137:E47Q;ENSP00000440785:E47Q;ENSP00000443353:E169Q	ENSP00000251071:E250Q	E	-	1	0	CAPRIN2	30779230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.681000	0.54648	1.205000	0.43262	0.591000	0.81541	GAA	CAPRIN2	-	NULL		0.373	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	C	NM_023925		30887963	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30887963	C	G	30887963	3	3	110	1	0	0	0	0	1	0	0	0	2641	922	32	1	2695	1	CAPRIN2	12	30887963	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2936999	30887963	102963932	223	16469										
SYT10	341359	genome.wustl.edu	37	chr12	33579277	33579277	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caaaaacttcagtaggagcaCttgaaatgctctgtggaagc	10	8	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:33579277C>G	ENST00000228567.3	-	2	601	c.305G>C	c.(304-306)aGt>aCt	p.S102T	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	102					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGTAGGAGCACTTGAAATGCT	0.413																																																	0													93	95	94					12																	33579277		2203	4300	6503	SO:0001583	missense	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.305G>C	12.37:g.33579277C>G	ENSP00000228567:p.Ser102Thr		Q495U2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.S102T	ENST00000228567.3	37	c.305	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	5.148	0.212850	0.09757	.	.	ENSG00000110975	ENST00000228567	T	0.47869	0.83	4.1	1.27	0.21489	.	0.135863	0.33144	N	0.005239	T	0.26011	0.0634	N	0.25647	0.755	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.05533	-1.0879	10	0.12766	T	0.61	.	5.07	0.14602	0.0:0.5926:0.1534:0.254	.	102	Q6XYQ8	SYT10_HUMAN	T	102	ENSP00000228567:S102T	ENSP00000228567:S102T	S	-	2	0	SYT10	33470544	0.434000	0.25570	0.810000	0.32431	0.639000	0.38242	0.311000	0.19380	0.279000	0.22186	0.655000	0.94253	AGT	SYT10	-	NULL		0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	C	NM_198992		33579277	-1	no_errors	ENST00000228567	ensembl	human	known	70_37	missense	SNP	0.979	G	G	33579277	C	G	33579277	3	3	110	1	0	0	0	0	1	0	0	0	15496	565	20	4	1290	4	SYT10	12	33579277	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2691314	33579277	100272618	224	16470										
KRT18	3875	genome.wustl.edu	37	chr12	53344643	53344643	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgcagctggagacagagatcGaggctctcaaggaggagctg	16	8	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:53344643G>C	ENST00000388835.3	+	3	820	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E204Q|KRT18_ENST00000550600.1_Missense_Mutation_p.E204Q	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	204	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GACAGAGATCGAGGCTCTCAA	0.572																																																	0													21	17	18					12																	53344643		2203	4300	6503	SO:0001583	missense	3875				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.610G>C	12.37:g.53344643G>C	ENSP00000373487:p.Glu204Gln		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E204Q	ENST00000388835.3	37	c.610	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	27.9	4.872026	0.91587	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.89875	-2.58;-2.58;-2.58	3.85	3.85	0.44370	Filament (1);	0.000000	0.64402	D	0.000013	D	0.92635	0.7660	M	0.77313	2.365	0.58432	D	0.999998	D;P	0.56035	0.974;0.884	P;P	0.57960	0.65;0.83	D	0.93534	0.6872	10	0.87932	D	0	.	14.0698	0.64852	0.0:0.0:1.0:0.0	.	204;204	F8VZY9;P05783	.;K1C18_HUMAN	Q	204	ENSP00000373489:E204Q;ENSP00000447278:E204Q;ENSP00000373487:E204Q	ENSP00000373487:E204Q	E	+	1	0	KRT18	51630910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.580000	0.98207	2.427000	0.82271	0.561000	0.74099	GAG	KRT18	-	pfam_F		0.572	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	G	NM_199187		53344643	1	no_errors	ENST00000388835	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53344643	G	C	53344643	3	2	110	1	0	0	0	0	1	0	0	0	8475	1059	37	1	620	1	KRT18	12	53344643	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	19765366	53344643	80507252	225	16471										
KRT18	3875	genome.wustl.edu	37	chr12	53344685	53344685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcttcatgaagaagaaccacGaagaggcaagcaggggccac	12	10	2	4	rs375823747		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:53344685G>A	ENST00000388835.3	+	3	862	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E218K|KRT18_ENST00000550600.1_Missense_Mutation_p.E218K	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	218	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GAAGAACCACGAAGAGGCAAG	0.547																																																	0								G	LYS/GLU,LYS/GLU	0,4372		0,0,2186	8	7	8		652,652	3.8	1	12		8	1,8465		0,1,4232	no	missense,missense	KRT18	NM_000224.2,NM_199187.1	56,56	0,1,6418	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	218/431,218/431	53344685	1,12837	2186	4233	6419	SO:0001583	missense	3875				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.652G>A	12.37:g.53344685G>A	ENSP00000373487:p.Glu218Lys		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E218K	ENST00000388835.3	37	c.652	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	16.13	3.036933	0.54896	0.0	1.18E-4	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.90620	-2.7;-2.7;-2.7	3.85	3.85	0.44370	Filament (1);	0.098121	0.43260	D	0.000594	D	0.85274	0.5659	L	0.45051	1.395	0.44862	D	0.997878	P;P	0.35411	0.489;0.5	B;B	0.33620	0.167;0.127	D	0.85997	0.1492	10	0.87932	D	0	.	9.7263	0.40333	0.0:0.2114:0.7886:0.0	.	218;218	F8VZY9;P05783	.;K1C18_HUMAN	K	218	ENSP00000373489:E218K;ENSP00000447278:E218K;ENSP00000373487:E218K	ENSP00000373487:E218K	E	+	1	0	KRT18	51630952	1.000000	0.71417	0.955000	0.39395	0.809000	0.45718	5.260000	0.65490	2.427000	0.82271	0.561000	0.74099	GAA	KRT18	-	pfam_F		0.547	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	G	NM_199187		53344685	1	no_errors	ENST00000388835	ensembl	human	known	70_37	missense	SNP	0.996	A	A	53344685	G	A	53344685	3	1	110	1	0	0	0	0	1	0	0	0	8475	1059	37	1	662	1	KRT18	12	53344685	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	42	53344685	80507210	226	16472										
TENC1	23371	genome.wustl.edu	37	chr12	53451429	53451429	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctcttcctgcactatgtgctCatccccatgctgccagcctt	6	17	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:53451429C>G	ENST00000314250.6	+	12	1214	c.924C>G	c.(922-924)ctC>ctG	p.L308L	TENC1_ENST00000552570.1_Silent_p.L308L|TENC1_ENST00000314276.3_Silent_p.L318L|TENC1_ENST00000549700.1_Silent_p.L308L|TENC1_ENST00000546602.1_Silent_p.L308L|TENC1_ENST00000451358.1_Silent_p.L308L|TENC1_ENST00000379902.3_Silent_p.L184L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	308	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ACTATGTGCTCATCCCCATGC	0.562																																																	0													170	165	167					12																	53451429		2203	4300	6503	SO:0001819	synonymous_variant	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.924C>G	12.37:g.53451429C>G			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L318	ENST00000314250.6	37	c.954	CCDS8843.1	12																																																																																			TENC1	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.562	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53451429	1	no_errors	ENST00000314276	ensembl	human	known	70_37	silent	SNP	0.365	G	G	53451429	C	G	53451429	2	3	110	1	0	0	0	0	0	0	0	1	15788	813	29	1		1	TENC1	12	53451429	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	106744	53451429	80400466	227	16473										
CDK2	1017	genome.wustl.edu	37	chr12	56365402	56365402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caagccagtaccccatcttcGactctgatagccttcttgaa	6	14	3	2	rs201353858		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:56365402G>A	ENST00000266970.4	+	7	1130	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	CDK2_ENST00000556656.1_3'UTR|RAB5B_ENST00000448789.2_5'Flank|CDK2_ENST00000553376.1_Missense_Mutation_p.R345Q|RAB5B_ENST00000553116.1_5'Flank|CDK2_ENST00000440311.2_Missense_Mutation_p.R237Q|RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000354056.4_Missense_Mutation_p.R263Q	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CCCCATCTTCGACTCTGATAG	0.567																																																	0													113	100	104					12																	56365402		2203	4300	6503	SO:0001583	missense	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.890G>A	12.37:g.56365402G>A	ENSP00000266970:p.Arg297Gln		A8K7C6|O75100	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.R297Q	ENST00000266970.4	37	c.890	CCDS8898.1	12	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528440	0.64860	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	T;T;T;T	0.71222	-0.48;-0.55;-0.14;-0.12	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.202809	0.35207	N	0.003373	T	0.58409	0.2120	L	0.29908	0.895	0.41281	D	0.986918	B;B;B	0.31837	0.342;0.109;0.172	B;B;B	0.19148	0.016;0.024;0.006	T	0.62025	-0.6941	10	0.59425	D	0.04	-1.3927	16.4009	0.83640	0.0:0.0:1.0:0.0	.	237;263;297	E7ESI2;P24941-2;P24941	.;.;CDK2_HUMAN	Q	297;345;237;263	ENSP00000266970:R297Q;ENSP00000452514:R345Q;ENSP00000393605:R237Q;ENSP00000243067:R263Q	ENSP00000266970:R297Q	R	+	2	0	CDK2	54651669	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	8.596000	0.90844	2.688000	0.91661	0.591000	0.81541	CGA	CDK2	-	superfamily_Kinase-like_dom		0.567	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	HGNC	protein_coding	OTTHUMT00000409650.1	G			56365402	1	no_errors	ENST00000266970	ensembl	human	known	70_37	missense	SNP	0.999	A	A	56365402	G	A	56365402	3	1	110	1	0	0	0	0	1	0	0	0	3141	1058	37	1	916	1	CDK2	12	56365402	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2913973	56365402	77486493	228	16474										
CS	1431	genome.wustl.edu	37	chr12	56693956	56693956	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgctcaccttggttcccaaGagccgggcggccgcagtaag	13	14	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:56693956G>C	ENST00000351328.3	-	1	220	c.30C>G	c.(28-30)ctC>ctG	p.L10L	CS_ENST00000542324.2_5'UTR|RP11-977G19.10_ENST00000549318.1_Silent_p.L206L|RP11-977G19.11_ENST00000549860.1_RNA|CS_ENST00000548567.1_5'UTR|RP11-977G19.11_ENST00000549565.1_RNA	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	10					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TGGTTCCCAAGAGCCGGGCGG	0.701																																																	0													14	14	14					12																	56693956		2179	4271	6450	SO:0001819	synonymous_variant	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.30C>G	12.37:g.56693956G>C			Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.L10	ENST00000351328.3	37	c.30	CCDS8913.1	12																																																																																			CS	-	NULL		0.701	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	G	NM_004077		56693956	-1	no_errors	ENST00000351328	ensembl	human	known	70_37	silent	SNP	1.000	C	C	56693956	G	C	56693956	2	2	110	1	0	0	0	0	0	0	0	1	3929	929	33	1		1	CS	12	56693956	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	328554	56693956	77157939	229	16475										
VEZT	55591	genome.wustl.edu	37	chr12	95676223	95676223	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catcgtatcttatctgatgtGactcaaggtctacctcatgc	7	11	5	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:95676223G>A	ENST00000436874.1	+	8	1236	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.V329V	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	377					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TATCTGATGTGACTCAAGGTC	0.473																																																	0													178	169	172					12																	95676223		1981	4175	6156	SO:0001819	synonymous_variant	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1131G>A	12.37:g.95676223G>A			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	NULL	p.V377	ENST00000436874.1	37	c.1131	CCDS44954.1	12																																																																																			VEZT	-	NULL		0.473	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95676223	1	no_errors	ENST00000436874	ensembl	human	known	70_37	silent	SNP	1.000	A	A	95676223	G	A	95676223	2	1	110	1	0	0	0	0	0	0	0	1	17187	1277	45	1		1	VEZT	12	95676223	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	38982267	95676223	38175672	230	16476										
C12orf45	121053	genome.wustl.edu	37	chr12	105388413	105388413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taacattaagcttcccaattCtgaaggtggaaaaggcaaga	9	7	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:105388413C>T	ENST00000552951.1	+	4	540	c.497C>T	c.(496-498)tCt>tTt	p.S166F	C12orf45_ENST00000548583.1_3'UTR|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	166										large_intestine(1)|lung(2)	3						CTTCCCAATTCTGAAGGTGGA	0.373																																																	0													71	65	67					12																	105388413		1858	4092	5950	SO:0001583	missense	121053			BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.497C>T	12.37:g.105388413C>T	ENSP00000447057:p.Ser166Phe			Missense_Mutation	SNP	NULL	p.S166F	ENST00000552951.1	37	c.497	CCDS41825.1	12	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914713	0.72983	.	.	ENSG00000151131	ENST00000552951	T	0.33438	1.41	5.56	4.67	0.58626	.	0.794205	0.12112	N	0.498405	T	0.44498	0.1296	L	0.57536	1.79	0.25193	N	0.990114	D	0.59767	0.986	P	0.54312	0.748	T	0.29971	-0.9994	10	0.62326	D	0.03	-28.8538	11.8945	0.52650	0.0:0.9175:0.0:0.0825	.	166	Q8N5I9	CL045_HUMAN	F	166	ENSP00000447057:S166F	ENSP00000447057:S166F	S	+	2	0	C12orf45	103912543	0.948000	0.32251	0.888000	0.34837	0.996000	0.88848	1.132000	0.31418	1.483000	0.48342	0.650000	0.86243	TCT	C12orf45	-	NULL		0.373	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf45	HGNC	protein_coding	OTTHUMT00000406076.1	C	NM_152318		105388413	1	no_errors	ENST00000552951	ensembl	human	known	70_37	missense	SNP	0.920	T	T	105388413	C	T	105388413	3	4	110	1	0	0	0	0	1	0	0	0	1695	913	32	1	511	1	C12orf45	12	105388413	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	9712190	105388413	28463482	231	16477										
CORO1C	23603	genome.wustl.edu	37	chr12	109051199	109051199	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttcatgtgctttctccttctCctggagagcaaaaaggcaca	8	11	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:109051199C>T	ENST00000261401.3	-	6	803	c.631G>A	c.(631-633)Gag>Aag	p.E211K	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Splice_Site_p.E106K|CORO1C_ENST00000420959.2_Splice_Site_p.E264K|CORO1C_ENST00000541050.1_Splice_Site_p.E211K|CORO1C_ENST00000549772.1_Splice_Site_p.E217K	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	211					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TTCTCCTTCTCCTGGAGAGCA	0.527																																																	0													80	73	75					12																	109051199		2203	4300	6503	SO:0001630	splice_region_variant	23603			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"Coronins", "WD repeat domain containing"	2254	protein-coding gene	gene with protein product		605269	"coronin, actin-binding protein, 1C"			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.631-1G>A	12.37:g.109051199C>T			A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E264K	ENST00000261401.3	37	c.790	CCDS9120.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637514	0.87760	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959;ENST00000552871	T;T;T;T;T;T	0.80824	5.07;5.07;5.07;5.07;5.07;-1.42	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047704	0.85682	D	0.000000	D	0.90452	0.7010	M	0.86740	2.835	0.80722	D	1	D;P;P	0.69078	0.997;0.751;0.727	D;B;B	0.66847	0.947;0.368;0.319	D	0.89673	0.3885	10	0.33141	T	0.24	-10.7931	18.8822	0.92360	0.0:1.0:0.0:0.0	.	174;264;211	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	K	211;211;106;217;264;106	ENSP00000261401:E211K;ENSP00000438341:E211K;ENSP00000415554:E106K;ENSP00000447534:E217K;ENSP00000394496:E264K;ENSP00000449658:E106K	ENSP00000261401:E211K	E	-	1	0	CORO1C	107575328	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.815000	0.86186	2.444000	0.82710	0.637000	0.83480	GAG	CORO1C	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.527	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	HGNC	protein_coding	OTTHUMT00000403802.1	C	NM_014325	Missense_Mutation	109051199	-1	no_errors	ENST00000420959	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109051199	C	T	109051199	5	4	110	1	0	0	0	0	0	0	1	0	3760	869	30	1	817	1	CORO1C	12	109051199	Splice_Site	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3662786	109051199	24800696	232	16478										
ATP2A2	488	genome.wustl.edu	37	chr12	110734533	110734533	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tagttcctggtgatattgtaGaaattgctggtgagttgagt	13	3	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:110734533G>C	ENST00000539276.2	+	5	563	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152Q|ATP2A2_ENST00000395494.2_Missense_Mutation_p.E152Q			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	152					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGATATTGTAGAAATTGCTGG	0.343																																																	0													139	131	134					12																	110734533		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.454G>C	12.37:g.110734533G>C	ENSP00000440045:p.Glu152Gln		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.E152Q	ENST00000539276.2	37	c.454	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040273|4.040273	0.75732|0.75732	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276;ENST00000550248|ENST00000548169	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.45|5.45	5.45|5.45	0.79879|0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.044860|.	0.85682|.	D|.	0.000000|.	T|T	0.68210|0.68210	0.2976|0.2976	L|L	0.42744|0.42744	1.35|1.35	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33280|.	0.138;0.226;0.405|.	B;B;B|.	0.36504|.	0.111;0.102;0.226|.	T|T	0.63773|0.63773	-0.6561|-0.6561	9|5	.|.	.|.	.|.	.|.	19.2648|19.2648	0.93982|0.93982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152;152;152|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	Q|T	152;152;152;27|69	ENSP00000311186:E152Q;ENSP00000378872:E152Q;ENSP00000440045:E152Q|.	.|.	E|R	+|+	1|2	0|0	ATP2A2|ATP2A2	109218916|109218916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.466000|9.466000	0.97665|0.97665	2.550000|2.550000	0.86006|0.86006	0.579000|0.579000	0.79373|0.79373	GAA|AGA	ATP2A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.343	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	G	NM_001681		110734533	1	no_errors	ENST00000539276	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110734533	G	C	110734533	3	2	110	1	0	0	0	0	1	0	0	0	1138	943	33	1	472	1	ATP2A2	12	110734533	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1683334	110734533	23117362	233	16479										
P2RX2	22953	genome.wustl.edu	37	chr12	133196044	133196044	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtacgtattcatcgtgcagAaaagctaccaggagagcgag	13	8	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:133196044A>T	ENST00000389110.3	+	2	230	c.193A>T	c.(193-195)Aaa>Taa	p.K65*	P2RX2_ENST00000449132.2_Nonsense_Mutation_p.K65*|P2RX2_ENST00000352418.4_Missense_Mutation_p.E42V|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.K65*|P2RX2_ENST00000350048.5_Nonsense_Mutation_p.K65*|P2RX2_ENST00000348800.5_Nonsense_Mutation_p.K65*	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	65					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CATCGTGCAGAAAAGCTACCA	0.667																																																	0													81	80	80					12																	133196044		2203	4300	6503	SO:0001587	stop_gained	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.193A>T	12.37:g.133196044A>T	ENSP00000373762:p.Lys65*		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Nonsense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.K65*	ENST00000389110.3	37	c.193	CCDS31931.1	12	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	A|A|A|A	36|36|36|36	5.851334|5.851334|5.851334|5.851334	0.97023|0.97023|0.97023|0.97023	.|.|.|.	.|.|.|.	ENSG00000187848|ENSG00000187848|ENSG00000187848|ENSG00000187848	ENST00000352418|ENST00000389110;ENST00000449132;ENST00000343948;ENST00000350048;ENST00000348800|ENST00000542301;ENST00000535910|ENST00000536121	T|.|.|.	0.06218|.|.|.	3.33|.|.|.	4.44|4.44|4.44|4.44	4.44|4.44|4.44|4.44	0.53790|0.53790|0.53790|0.53790	.|.|.|.	.|0.000000|.|.	.|0.85682|.|.	.|D|.|.	.|0.000000|.|.	T|.|T|.	0.62913|.|0.62913|.	0.2467|.|0.2467|.	.|.|.|.	.|.|.|.	.|.|.|.	0.80722|0.80722|0.80722|0.80722	A|A|A|A	1|1|1|1	B|.|.|.	0.02656|.|.|.	0.0|.|.|.	B|.|.|.	0.01281|.|.|.	0.0|.|.|.	T|.|T|.	0.70428|.|0.70428|.	-0.4874|.|-0.4874|.	7|.|3|.	0.27785|0.02654|.|.	T|T|.|.	0.31|1|.|.	-17.8881|-17.8881|-17.8881|-17.8881	13.3464|13.3464|13.3464|13.3464	0.60575|0.60575|0.60575|0.60575	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.|.	42|.|.|.	Q9UBL9-6|.|.|.	.|.|.|.	V|X|S|C	42|65|75;20|50	ENSP00000341419:E42V|.|.|.	ENSP00000341419:E42V|ENSP00000343339:K65X|.|.	E|K|R|X	+|+|+|+	2|1|3|3	0|0|2|0	P2RX2|P2RX2|P2RX2|P2RX2	131706117|131706117|131706117|131706117	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.894000|0.894000|0.894000|0.894000	0.52154|0.52154|0.52154|0.52154	8.307000|8.307000|8.307000|8.307000	0.89964|0.89964|0.89964|0.89964	1.631000|1.631000|1.631000|1.631000	0.50456|0.50456|0.50456|0.50456	0.413000|0.413000|0.413000|0.413000	0.27773|0.27773|0.27773|0.27773	GAA|AAA|AGA|TGA	P2RX2	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.667	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	A			133196044	1	no_errors	ENST00000343948	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	133196044	A	T	133196044	4	4	110	1	0	0	0	0	0	1	0	0	11364	247	9	5	199	5	P2RX2	12	133196044	Nonsense_Mutation	SNP	A	TCGA-EK-A2RJ-01A-11D-A18J-09	22461511	133196044	655851	234	16480										
ANKLE2	23141	genome.wustl.edu	37	chr12	133313568	133313568	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gcggctgacgtgagaggcctCagccgtctggtctggggacc	17	12	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:133313568C>T	ENST00000357997.5	-	8	1593	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E440K|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E502K|ANKLE2_ENST00000542374.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	502					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGAGAGGCCTCAGCCGTCTGG	0.642																																																	0													56	67	64					12																	133313568		1955	4149	6104	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1504G>A	12.37:g.133313568C>T	ENSP00000350686:p.Glu502Lys		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.E502K	ENST00000357997.5	37	c.1504	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	c	8.427	0.847659	0.17034	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.26	4.36	0.52297	.	0.797034	0.12546	N	0.459479	T	0.35364	0.0929	L	0.40543	1.245	0.09310	N	1	B;B	0.33883	0.2;0.43	B;B	0.28011	0.067;0.085	T	0.12682	-1.0538	10	0.06757	T	0.87	-12.4167	14.6149	0.68541	0.0:0.8545:0.1455:0.0	.	502;502	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	K	440;502;502;65	ENSP00000446268:E440K;ENSP00000350686:E502K;ENSP00000337651:E502K;ENSP00000437585:E65K	ENSP00000337651:E502K	E	-	1	0	ANKLE2	131823641	0.038000	0.19896	0.003000	0.11579	0.004000	0.04260	1.949000	0.40313	1.328000	0.45358	-0.172000	0.13284	GAG	ANKLE2	-	NULL		0.642	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	C			133313568	-1	no_errors	ENST00000357997	ensembl	human	known	70_37	missense	SNP	0.017	T	T	133313568	C	T	133313568	3	4	110	1	0	0	0	0	1	0	0	0	633	835	29	1	1336	1	ANKLE2	12	133313568	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	117524	133313568	538327	235	16481										
LATS2	26524	genome.wustl.edu	37	chr13	21619910	21619910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gcccgattcattagcaaaagGcaacaaggaatatctgattt	8	8	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:21619910G>A	ENST00000382592.4	-	2	661	c.256C>T	c.(256-258)Cct>Tct	p.P86S	LATS2_ENST00000542899.1_Missense_Mutation_p.P86S	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTAGCAAAAGGCAACAAGGAA	0.537																																																	0													99	89	92					13																	21619910		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.256C>T	13.37:g.21619910G>A	ENSP00000372035:p.Pro86Ser			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P86S	ENST00000382592.4	37	c.256	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.123592	0.94429	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.46819	0.86;0.86	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000002	T	0.72542	0.3473	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75528	-0.3286	10	0.87932	D	0	.	19.7236	0.96153	0.0:0.0:1.0:0.0	.	86	Q9NRM7	LATS2_HUMAN	S	86	ENSP00000372035:P86S;ENSP00000441817:P86S	ENSP00000372035:P86S	P	-	1	0	LATS2	20517910	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.324000	0.96373	2.730000	0.93505	0.655000	0.94253	CCT	LATS2	-	NULL		0.537	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	G			21619910	-1	no_errors	ENST00000382592	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21619910	G	A	21619910	3	1	110	1	0	0	0	0	1	0	0	0	8667	1203	42	4	3038	4	LATS2	13	21619910	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		21619910	93549968	236	16482										
CDX2	1045	genome.wustl.edu	37	chr13	28539078	28539078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtgatgtagcgactgtagtGaaactccttctccagctcca	10	11	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:28539078G>A	ENST00000381020.7	-	2	2748	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	206					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CGACTGTAGTGAAACTCCTTC	0.602			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0													80	68	72					13																	28539078		2203	4300	6503	SO:0001583	missense	1045			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.616C>T	13.37:g.28539078G>A	ENSP00000370408:p.His206Tyr		O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.H206Y	ENST00000381020.7	37	c.616	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.787604	0.96945	.	.	ENSG00000165556	ENST00000381020	D	0.96041	-3.89	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000007	D	0.95576	0.8562	L	0.39245	1.2	0.80722	D	1	B	0.32893	0.389	P	0.46208	0.507	D	0.94967	0.8113	10	0.87932	D	0	-46.7372	19.798	0.96494	0.0:0.0:1.0:0.0	.	206	Q99626	CDX2_HUMAN	Y	206	ENSP00000370408:H206Y	ENSP00000370408:H206Y	H	-	1	0	CDX2	27437078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.795000	0.99099	2.677000	0.91161	0.563000	0.77884	CAC	CDX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.602	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	G			28539078	-1	no_errors	ENST00000381020	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28539078	G	A	28539078	3	1	110	1	0	0	0	0	1	0	0	0	3188	1290	45	1	333	1	CDX2	13	28539078	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6919168	28539078	86630800	237	16483										
MTUS2	23281	genome.wustl.edu	37	chr13	30071399	30071399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggtggacacgctgaccttcCagagccagtctctgcgggac	13	13	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:30071399C>T	ENST00000380808.2	+	6	757	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_Nonsense_Mutation_p.Q1212*|MTUS2_ENST00000542829.1_Nonsense_Mutation_p.Q91*	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1202						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGACCTTCCAGAGCCAGTC	0.592																																																	0													32	40	37					13																	30071399		2173	4270	6443	SO:0001587	stop_gained	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.541C>T	13.37:g.30071399C>T	ENSP00000370186:p.Gln181*		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	NULL	p.Q1212*	ENST00000380808.2	37	c.3634	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.423686	0.98275	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8315	0.88684	0.0:1.0:0.0:0.0	.	.	.	.	X	1212;181;91;138	.	.	Q	+	1	0	MTUS2	28969399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.677000	0.91161	0.655000	0.94253	CAG	MTUS2	-	NULL		0.592	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	C	XM_166270		30071399	1	no_errors	ENST00000431530	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	30071399	C	T	30071399	4	4	110	1	0	0	0	0	0	1	0	0	9989	595	21	4	3734	4	MTUS2	13	30071399	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1532321	30071399	85098479	238	16484										
NBEA	26960	genome.wustl.edu	37	chr13	35622736	35622736	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctattgcaaagtggccttatCagaatggcttcaccttaaac	7	10	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:35622736C>T	ENST00000400445.3	+	5	1294	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q254*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q254*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q254*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	254					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGGCCTTATCAGAATGGCTT	0.343																																																	0													80	73	75					13																	35622736		1859	4084	5943	SO:0001587	stop_gained	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.760C>T	13.37:g.35622736C>T	ENSP00000383295:p.Gln254*		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Q254*	ENST00000400445.3	37	c.760	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	43	10.149020	0.99348	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.68	5.68	0.88126	.	0.066155	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.7731	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000308534:Q254X	Q	+	1	0	NBEA	34520736	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.773000	0.85462	2.669000	0.90835	0.484000	0.47621	CAG	NBEA	-	superfamily_ConA-like_lec_gl_sf		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35622736	1	no_errors	ENST00000310336	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	35622736	C	T	35622736	4	4	110	1	0	0	0	0	0	1	0	0	10210	827	29	1	778	1	NBEA	13	35622736	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5551337	35622736	79547142	239	16485										
NBEA	26960	genome.wustl.edu	37	chr13	35751232	35751232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gccttcgtgctgttgtctttCgggatgtggtaagttatacc	12	8	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:35751232C>T	ENST00000400445.3	+	28	5188	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	NBEA_ENST00000379939.2_Missense_Mutation_p.R1549W|NBEA_ENST00000310336.4_Missense_Mutation_p.R1552W|NBEA_ENST00000540320.1_Missense_Mutation_p.R1552W	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1552					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTGTCTTTCGGGATGTGGT	0.393																																																	0													146	128	134					13																	35751232		1875	4107	5982	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4654C>T	13.37:g.35751232C>T	ENSP00000383295:p.Arg1552Trp		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R1552W	ENST00000400445.3	37	c.4654	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721708	0.68959	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.17	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.965;0.991	D	0.83633	0.0146	10	0.87932	D	0	.	14.5739	0.68232	0.2662:0.7338:0.0:0.0	.	1552;1549	Q8NFP9;Q5T321	NBEA_HUMAN;.	W	1552;1552;1549;1552;211	ENSP00000440951:R1552W;ENSP00000383295:R1552W;ENSP00000369271:R1549W;ENSP00000308534:R1552W	ENSP00000308534:R1552W	R	+	1	2	NBEA	34649232	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.839000	0.62810	1.606000	0.50161	-0.182000	0.12963	CGG	NBEA	-	NULL		0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35751232	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35751232	C	T	35751232	3	4	110	1	0	0	0	0	1	0	0	0	10210	875	31	1	4764	1	NBEA	13	35751232	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	128496	35751232	79418646	240	16486										
TSC22D1	8848	genome.wustl.edu	37	chr13	45148542	45148542	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaagaccttgcttttgctGatagctcagttcttgagact	9	9	2	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:45148542G>A	ENST00000458659.2	-	1	2159	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	557	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q557E(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGCTTTTGCTGATAGCTCAGT	0.458																																																	1	Substitution - Missense(1)	breast(1)											129	118	122					13																	45148542		2203	4300	6503	SO:0001587	stop_gained	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1669C>T	13.37:g.45148542G>A	ENSP00000397435:p.Gln557*		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Nonsense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.Q557*	ENST00000458659.2	37	c.1669	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	42	9.408160	0.99163	.	.	ENSG00000102804	ENST00000458659	.	.	.	4.61	3.75	0.43078	.	0.390537	0.22137	N	0.064112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	13.1585	0.59531	0.0:0.0:0.8387:0.1613	.	.	.	.	X	557	.	ENSP00000397435:Q557X	Q	-	1	0	TSC22D1	44046542	0.989000	0.36119	0.997000	0.53966	0.956000	0.61745	2.981000	0.49329	1.279000	0.44446	0.491000	0.48974	CAG	TSC22D1	-	NULL		0.458	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	G	NM_006022		45148542	-1	no_errors	ENST00000458659	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	45148542	G	A	45148542	4	1	110	1	0	0	0	0	0	1	0	0	16638	1299	45	1	1693	1	TSC22D1	13	45148542	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9397310	45148542	70021336	241	16487										
GTF2F2	2963	genome.wustl.edu	37	chr13	45841511	45841511	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gacatcacaaagcaacctgtGgtatgtatatgttcatactg	8	8	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:45841511G>T	ENST00000340473.6	+	7	771	c.630G>T	c.(628-630)gtG>gtT	p.V210V		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	210					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AGCAACCTGTGGTATGTATAT	0.353																																																	0													131	135	134					13																	45841511		2203	4300	6503	SO:0001630	splice_region_variant	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"General transcription factors"	4653	protein-coding gene	gene with protein product		189969	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.630+1G>T	13.37:g.45841511G>T			A6NNS5|Q5W0H3	Silent	SNP	pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr	p.V210	ENST00000340473.6	37	c.630	CCDS9395.1	13																																																																																			GTF2F2	-	pfam_TFIIF_beta,pirsf_TFIIF-beta_subgr		0.353	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F2	HGNC	protein_coding	OTTHUMT00000044767.2	G	NM_004128	Silent	45841511	1	no_errors	ENST00000340473	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45841511	G	T	45841511	5	4	110	1	0	0	0	0	0	0	1	0	6879	1362	47	4	656	4	GTF2F2	13	45841511	Splice_Site	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	692969	45841511	69328367	242	16488										
ZC3H13	23091	genome.wustl.edu	37	chr13	46539507	46539507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catcactgattggctcgtatCcttctccagcaccagagcct	7	15	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:46539507C>T	ENST00000242848.4	-	16	4727	c.4379G>A	c.(4378-4380)gGa>gAa	p.G1460E	ZC3H13_ENST00000378921.2_Missense_Mutation_p.G416E|ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1461E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1460							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGGCTCGTATCCTTCTCCAGC	0.423																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													276	247	257					13																	46539507		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4379G>A	13.37:g.46539507C>T	ENSP00000242848:p.Gly1460Glu		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G1460E	ENST00000242848.4	37	c.4379		13	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372359	0.61624	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.37752	2.78;1.18;1.81	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000092	T	0.23965	0.0580	L	0.28274	0.84	0.40918	D	0.984283	B;B;B	0.24186	0.06;0.099;0.004	B;B;B	0.26416	0.031;0.069;0.009	T	0.09907	-1.0653	10	0.11182	T	0.66	.	10.713	0.45995	0.0:0.9139:0.0:0.0861	.	1460;1461;45	Q5T200;Q5T200-2;B3KMG8	ZC3HD_HUMAN;.;.	E	1460;416;1461	ENSP00000242848:G1460E;ENSP00000368201:G416E;ENSP00000282007:G1461E	ENSP00000242848:G1460E	G	-	2	0	ZC3H13	45437508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.430000	0.44766	2.675000	0.91044	0.655000	0.94253	GGA	ZC3H13	-	NULL		0.423	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	C	NM_015070		46539507	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46539507	C	T	46539507	3	4	110	1	0	0	0	0	1	0	0	0	17595	855	30	1	320	1	ZC3H13	13	46539507	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	697996	46539507	68630371	243	16489										
MYCBP2	23077	genome.wustl.edu	37	chr13	77817203	77817203	+	Missense_Mutation	SNP	C	C	T													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctacatcttacctcttccttCctctaatctgtgccttctga							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:77817203C>T	ENST00000544440.2	-	17	2523	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E836K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E874K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTCTTCCTTCCTCTAATCTG	0.408																																																	0													270	222	238					13																	77817203		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2506G>A	13.37:g.77817203C>T	ENSP00000444596:p.Glu836Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E874K	ENST00000544440.2	37	c.2620		13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987855	0.74589	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28255	1.62;1.62;1.62	5.48	5.48	0.80851	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.126232	0.52532	D	0.000080	T	0.46092	0.1375	L	0.44542	1.39	0.58432	D	0.99999	P	0.52842	0.956	P	0.62184	0.899	T	0.09422	-1.0675	10	0.21540	T	0.41	.	19.3541	0.94404	0.0:1.0:0.0:0.0	.	836	O75592	MYCB2_HUMAN	K	836;874;836	ENSP00000349892:E836K;ENSP00000384288:E874K;ENSP00000444596:E836K	ENSP00000349892:E836K	E	-	1	0	MYCBP2	76715204	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.021000	0.76425	2.560000	0.86352	0.557000	0.71058	GAA	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold		0.408	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77817203	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77817203	C	T	77817203	3	4	110	1	0	0	0	0	1	0	0	0	10041	864	30	1	11684	1	MYCBP2	13	77817203	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	31277696	77817203	37352675	244	16490	86	2								
MYCBP2	23077	genome.wustl.edu	37	chr13	77817206	77817206	+	Missense_Mutation	SNP	C	C	T													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catcttacctcttccttcctCtaatctgtgccttctgatta							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:77817206C>T	ENST00000544440.2	-	17	2520	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E835K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E873K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTCCTTCCTCTAATCTGTGC	0.413																																																	0													270	222	238					13																	77817206		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2503G>A	13.37:g.77817206C>T	ENSP00000444596:p.Glu835Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E873K	ENST00000544440.2	37	c.2617		13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949795	0.73787	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28895	1.6;1.59;1.6	5.48	5.48	0.80851	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.205035	0.40554	N	0.001075	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.21917	0.037	T	0.03025	-1.1081	10	0.30854	T	0.27	.	19.3541	0.94404	0.0:1.0:0.0:0.0	.	835	O75592	MYCB2_HUMAN	K	835;873;835	ENSP00000349892:E835K;ENSP00000384288:E873K;ENSP00000444596:E835K	ENSP00000349892:E835K	E	-	1	0	MYCBP2	76715207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.021000	0.76425	2.560000	0.86352	0.557000	0.71058	GAG	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold		0.413	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77817206	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77817206	C	T	77817206	3	4	110	1	0	0	0	0	1	0	0	0	10041	922	32	1	11687	1	MYCBP2	13	77817206	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3	77817206	37352672	245	16491	86	2								
ZFP36L1	677	genome.wustl.edu	37	chr14	69259641	69259641	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcgaagatggtggcagacacGagggtggtggtcatcctgtg	17	7	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:69259641G>A	ENST00000439696.2	-	1	316	c.15C>T	c.(13-15)ctC>ctT	p.L5L	ZFP36L1_ENST00000336440.3_Silent_p.L5L|ZFP36L1_ENST00000555997.1_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	5					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L5L(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGCAGACACGAGGGTGGTGG	0.557																																																	1	Substitution - coding silent(1)	lung(1)											133	132	133					14																	69259641		2203	4300	6503	SO:0001819	synonymous_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.15C>T	14.37:g.69259641G>A			Q13851	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.L5	ENST00000439696.2	37	c.15	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Tis11B_N		0.557	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	G			69259641	-1	no_errors	ENST00000336440	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69259641	G	A	69259641	2	1	110	1	0	0	0	0	0	0	0	1	17676	1045	37	1		1	ZFP36L1	14	69259641	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		69259641	38089899	246	16492										
DCAF5	8816	genome.wustl.edu	37	chr14	69522025	69522025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggcaatgaggccgaagactCtgagtcagtgtagcctgagc	14	9	2	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:69522025C>G	ENST00000341516.5	-	9	1525	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	DCAF5_ENST00000557386.1_Missense_Mutation_p.E459Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.E378Q|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.E378Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	460					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCCGAAGACTCTGAGTCAGTG	0.612																																																	0													60	54	56					14																	69522025		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1378G>C	14.37:g.69522025C>G	ENSP00000341351:p.Glu460Gln		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E460Q	ENST00000341516.5	37	c.1378	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213905	0.39102	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.68624	-0.34;-0.17;-0.17;0.27	5.68	4.74	0.60224	.	0.525921	0.20768	N	0.086038	T	0.63343	0.2503	L	0.27053	0.805	0.80722	D	1	P;P	0.50819	0.939;0.9	P;P	0.51193	0.662;0.461	T	0.61242	-0.7102	10	0.33940	T	0.23	-18.1644	15.4522	0.75282	0.1393:0.8607:0.0:0.0	.	459;460	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	460;378;378;459	ENSP00000341351:E460Q;ENSP00000451551:E378Q;ENSP00000452052:E378Q;ENSP00000451845:E459Q	ENSP00000341351:E460Q	E	-	1	0	DCAF5	68591778	0.980000	0.34600	0.988000	0.46212	0.934000	0.57294	3.037000	0.49775	2.683000	0.91414	0.561000	0.74099	GAG	DCAF5	-	NULL		0.612	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	C	NM_003861		69522025	-1	no_errors	ENST00000341516	ensembl	human	known	70_37	missense	SNP	0.984	G	G	69522025	C	G	69522025	3	3	110	1	0	0	0	0	1	0	0	0	4278	922	32	1	1454	1	DCAF5	14	69522025	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	262384	69522025	37827515	247	16493										
MOAP1	64112	genome.wustl.edu	37	chr14	93649864	93649864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cctaggattatctgtaacccCaaatacctcctcaagagcct	5	14	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:93649864C>T	ENST00000556883.1	-	2	1208	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	MOAP1_ENST00000298894.4_Missense_Mutation_p.G242R|TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	242					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tctgtaaccccaaatacctcc	0.443																																																	0													141	150	147					14																	93649864		2203	4300	6503	SO:0001583	missense	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.724G>A	14.37:g.93649864C>T	ENSP00000451594:p.Gly242Arg		B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	NULL	p.G242R	ENST00000556883.1	37	c.724	CCDS9908.1	14	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126152	0.56721	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.12147	2.71;2.71	3.66	2.75	0.32379	.	.	.	.	.	T	0.28366	0.0701	L	0.58428	1.81	0.32910	D	0.514394	D	0.71674	0.998	D	0.71656	0.974	T	0.29610	-1.0006	9	0.49607	T	0.09	-5.0387	8.5229	0.33287	0.2307:0.7693:0.0:0.0	.	242	Q96BY2	MOAP1_HUMAN	R	242	ENSP00000298894:G242R;ENSP00000451594:G242R	ENSP00000298894:G242R	G	-	1	0	MOAP1	92719617	1.000000	0.71417	0.979000	0.43373	0.967000	0.64934	1.231000	0.32624	1.106000	0.41623	0.650000	0.86243	GGG	MOAP1	-	NULL		0.443	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	C			93649864	-1	no_errors	ENST00000298894	ensembl	human	known	70_37	missense	SNP	0.988	T	T	93649864	C	T	93649864	3	4	110	1	0	0	0	0	1	0	0	0	9703	594	21	4	335	4	MOAP1	14	93649864	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	24127839	93649864	13699676	248	16494										
C14orf49	161176	genome.wustl.edu	37	chr14	95898436	95898436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttttggaatccagtcggctCccctggagaactttgtgtct	10	11	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:95898436C>T	ENST00000334258.5	-	16	2721	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	SYNE3_ENST00000554873.1_Missense_Mutation_p.E660K|SYNE3_ENST00000557275.1_Missense_Mutation_p.E898K	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	903					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCAGTCGGCTCCCCTGGAGAA	0.512											OREG0022898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													59	53	55					14																	95898436		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2707G>A	14.37:g.95898436C>T	ENSP00000334308:p.Glu903Lys	1316	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E903K	ENST00000334258.5	37	c.2707	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534394	0.27475	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.14022	3.55;2.54;3.55	4.69	3.78	0.43462	.	0.164905	0.28859	N	0.013910	T	0.12475	0.0303	L	0.53249	1.67	0.80722	D	1	B;B	0.17852	0.024;0.011	B;B	0.14023	0.01;0.008	T	0.05533	-1.0879	10	0.12430	T	0.62	-24.9452	10.924	0.47182	0.0:0.9035:0.0:0.0965	.	898;903	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	K	903;660;898	ENSP00000334308:E903K;ENSP00000452154:E660K;ENSP00000450562:E898K	ENSP00000334308:E903K	E	-	1	0	C14orf49	94968189	0.980000	0.34600	0.999000	0.59377	0.987000	0.75469	0.438000	0.21559	2.301000	0.77427	0.591000	0.81541	GAG	SYNE3	-	NULL		0.512	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95898436	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	0.997	T	T	95898436	C	T	95898436	3	4	110	1	0	0	0	0	1	0	0	0	1780	864	30	1	228	1	C14orf49	14	95898436	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2248572	95898436	11451104	249	16495										
TCL1B	9623	genome.wustl.edu	37	chr14	96152883	96152883	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggcctggcatctacgaagatGaggaggggagaacctgggtg	18	7	1	3	rs201542434		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:96152883G>C	ENST00000340722.7	+	1	130	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	27								p.E27K(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTACGAAGATGAGGAGGGGAG	0.642																																																	1	Substitution - Missense(1)	urinary_tract(1)											100	94	96					14																	96152883		2203	4300	6503	SO:0001583	missense	9623			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.79G>C	14.37:g.96152883G>C	ENSP00000343223:p.Glu27Gln		A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.E27Q	ENST00000340722.7	37	c.79	CCDS32151.1	14	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416348	0.42918	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.56275	0.47	2.78	1.84	0.25277	.	.	.	.	.	T	0.53850	0.1822	M	0.79123	2.44	0.09310	N	1	P	0.52316	0.952	P	0.44422	0.449	T	0.50039	-0.8874	9	0.87932	D	0	.	7.5287	0.27671	0.0:0.2673:0.7327:0.0	.	27	O95988	TCL1B_HUMAN	Q	27	ENSP00000343223:E27Q	ENSP00000343223:E27Q	E	+	1	0	TCL1B	95222636	0.121000	0.22262	0.168000	0.22838	0.003000	0.03518	1.402000	0.34600	0.703000	0.31848	0.455000	0.32223	GAG	TCL1B	-	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1		0.642	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCL1B	HGNC	protein_coding	OTTHUMT00000315123.2	G			96152883	1	no_errors	ENST00000340722	ensembl	human	known	70_37	missense	SNP	0.203	C	C	96152883	G	C	96152883	3	2	110	1	0	0	0	0	1	0	0	0	15735	1291	45	1	81	1	TCL1B	14	96152883	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	254447	96152883	11196657	250	16496										
AHNAK2	113146	genome.wustl.edu	37	chr14	105413217	105413217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgaatgcggatgtcagtggtCttaagatccccttgcatgga	12	8	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:105413217C>G	ENST00000333244.5	-	7	8690	c.8571G>C	c.(8569-8571)aaG>aaC	p.K2857N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2857						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K2857K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCAGTGGTCTTAAGATCCC	0.642																																																	1	Substitution - coding silent(1)	ovary(1)											124	142	136					14																	105413217		1962	4157	6119	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8571G>C	14.37:g.105413217C>G	ENSP00000353114:p.Lys2857Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K2857N	ENST00000333244.5	37	c.8571	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	11.81	1.749337	0.30955	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	3.07	1.2	0.21068	.	.	.	.	.	T	0.05593	0.0147	M	0.87328	2.875	0.09310	N	1	P	0.50528	0.936	P	0.50270	0.636	T	0.23833	-1.0177	9	0.37606	T	0.19	.	5.5913	0.17303	0.0:0.6356:0.1617:0.2027	.	2857	Q8IVF2	AHNK2_HUMAN	N	2857	ENSP00000353114:K2857N	ENSP00000353114:K2857N	K	-	3	2	AHNAK2	104484262	.	.	0.000000	0.03702	0.039000	0.13416	.	.	0.083000	0.17047	0.306000	0.20318	AAG	AHNAK2	-	NULL		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105413217	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	G	G	105413217	C	G	105413217	3	3	110	1	0	0	0	0	1	0	0	0	415	912	32	1	8820	1	AHNAK2	14	105413217	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	9260334	105413217	1936323	251	16497										
OR4N4	283694	genome.wustl.edu	37	chr15	22383199	22383199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccatgtccacgtgcaccactCgtgtcattattatacttctt	5	13	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:22383199C>T	ENST00000328795.4	+	1	818	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGCACCACTCGTGTCATTAT	0.488																																																	0													230	197	208					15																	22383199		2193	4262	6455	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.727C>T	15.37:g.22383199C>T	ENSP00000332500:p.Arg243Cys		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R243C	ENST00000328795.4	37	c.727	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924821	0.34002	.	.	ENSG00000183706	ENST00000328795	T	0.00115	8.71	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	T	0.00178	0.0005	N	0.19112	0.55	0.09310	N	0.999994	P	0.45986	0.87	P	0.51453	0.67	T	0.61530	-0.7044	10	0.87932	D	0	-2.4162	12.5975	0.56478	0.0:1.0:0.0:0.0	.	243	Q8N0Y3	OR4N4_HUMAN	C	243	ENSP00000332500:R243C	ENSP00000332500:R243C	R	+	1	0	OR4N4	19884563	0.997000	0.39634	0.369000	0.25952	0.005000	0.04900	4.185000	0.58330	1.870000	0.54199	0.404000	0.27445	CGT	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	C			22383199	1	no_errors	ENST00000328795	ensembl	human	known	70_37	missense	SNP	0.206	T	T	22383199	C	T	22383199	3	4	110	1	0	0	0	0	1	0	0	0	11102	884	31	1	729	1	OR4N4	15	22383199	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09		22383199	80148193	252	16498										
TJP1	7082	genome.wustl.edu	37	chr15	30012692	30012692	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agtcctctcttacaggctcaGaggaccgtgtaatggcagac	11	11	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:30012692G>A	ENST00000346128.6	-	19	3107	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F	TJP1_ENST00000400011.2_Missense_Mutation_p.S882F|TJP1_ENST00000356107.6_Missense_Mutation_p.S878F|TJP1_ENST00000545208.2_Missense_Mutation_p.S878F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	878					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TACAGGCTCAGAGGACCGTGT	0.483																																					Melanoma(77;681 1843 6309 6570)												0													151	151	151					15																	30012692		1952	4149	6101	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2633C>T	15.37:g.30012692G>A	ENSP00000281537:p.Ser878Phe		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.S878F	ENST00000346128.6	37	c.2633	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365549	0.82463	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.16196	2.39;2.95;2.87;2.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.42932	-0.9422	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	871;878;878;882	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	878;882;878;878;878	ENSP00000281537:S878F;ENSP00000382890:S882F;ENSP00000441202:S878F;ENSP00000348416:S878F	.	S	-	2	0	TJP1	27799984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.826000	0.97356	0.655000	0.94253	TCT	TJP1	-	prints_ZonOcculdens		0.483	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	G	NM_003257		30012692	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30012692	G	A	30012692	3	1	110	1	0	0	0	0	1	0	0	0	15959	942	33	1	2653	1	TJP1	15	30012692	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	7629493	30012692	72518700	253	16499										
RYR3	6263	genome.wustl.edu	37	chr15	34021064	34021064	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tatgtgtctttcagatgggtCggtcagtgagccagatatgg	14	6	3	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:34021064C>A	ENST00000389232.4	+	47	7110	c.7040C>A	c.(7039-7041)tCg>tAg	p.S2347*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.S2347*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2347	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGATGGGTCGGTCAGTGAG	0.443																																																	0													49	50	49					15																	34021064		1878	4105	5983	SO:0001587	stop_gained	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7040C>A	15.37:g.34021064C>A	ENSP00000373884:p.Ser2347*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S2347*	ENST00000389232.4	37	c.7040	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	48	14.176322	0.99783	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.85	4.85	0.62838	.	0.242632	0.34676	N	0.003773	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4806	0.61334	0.1563:0.8437:0.0:0.0	.	.	.	.	X	2347	.	ENSP00000354735:S2347X	S	+	2	0	RYR3	31808356	0.980000	0.34600	0.974000	0.42286	0.676000	0.39594	3.790000	0.55461	2.687000	0.91594	0.563000	0.77884	TCG	RYR3	-	NULL		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34021064	1	no_errors	ENST00000389232	ensembl	human	known	70_37	nonsense	SNP	0.868	A	A	34021064	C	A	34021064	4	1	110	1	0	0	0	0	0	1	0	0	13800	893	31	3	7226	3	RYR3	15	34021064	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4008372	34021064	68510328	254	16500										
PLA2G4F	255189	genome.wustl.edu	37	chr15	42446400	42446400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caggatgtccttgtcatagaGggtgagctccaggacgttct	13	9	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:42446400G>A	ENST00000382396.4	-	4	426	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.L114F			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	114	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTGTCATAGAGGGTGAGCTCC	0.597																																																	0													90	81	84					15																	42446400		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.340C>T	15.37:g.42446400G>A	ENSP00000371833:p.Leu114Phe		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L114F	ENST00000382396.4	37	c.340	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072720	0.55646	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.66995	-0.24;-0.24	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000024	D	0.84629	0.5514	M	0.89534	3.04	0.41745	D	0.989632	D	0.71674	0.998	D	0.71184	0.972	D	0.86881	0.2042	10	0.54805	T	0.06	-31.9377	17.0399	0.86486	0.0:0.0:1.0:0.0	.	114	Q68DD2	PA24F_HUMAN	F	110;114;114;114;114	ENSP00000380442:L114F;ENSP00000371833:L114F	ENSP00000290497:L110F	L	-	1	0	PLA2G4F	40233692	1.000000	0.71417	0.943000	0.38184	0.042000	0.13812	3.944000	0.56629	2.717000	0.92951	0.650000	0.86243	CTC	PLA2G4F	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	G	NM_213600		42446400	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	missense	SNP	0.975	A	A	42446400	G	A	42446400	3	1	110	1	0	0	0	0	1	0	0	0	12030	1000	35	4	2277	4	PLA2G4F	15	42446400	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	8425336	42446400	60084992	255	16501										
ADAL	161823	genome.wustl.edu	37	chr15	43628873	43628873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agcttactagtagccctgaaGatattctaatggtaagacat	8	7	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:43628873G>C	ENST00000562188.1	+	3	260	c.244G>C	c.(244-246)Gat>Cat	p.D82H	ADAL_ENST00000389651.4_Missense_Mutation_p.D82H|ADAL_ENST00000428046.3_Missense_Mutation_p.D82H|ADAL_ENST00000422466.2_Missense_Mutation_p.D82H			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	82					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TAGCCCTGAAGATATTCTAAT	0.313																																																	0													75	74	74					15																	43628873		2200	4294	6494	SO:0001583	missense	161823				CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.244G>C	15.37:g.43628873G>C	ENSP00000456242:p.Asp82His		A6NHZ3|B4DQM8	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom	p.D82H	ENST00000562188.1	37	c.244		15	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644727	0.87859	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.83591	-1.74;-1.74;-1.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.73217	2.22	0.80722	D	1	P;D	0.55605	0.716;0.972	P;P	0.57960	0.601;0.83	D	0.88332	0.2969	10	0.45353	T	0.12	-22.0975	17.2961	0.87171	0.0:0.0:1.0:0.0	.	82;82	B4DQM8;Q6DHV7-2	.;.	H	82	ENSP00000398744:D82H;ENSP00000413074:D82H;ENSP00000374302:D82H	ENSP00000374302:D82H	D	+	1	0	ADAL	41416165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.297000	0.89942	2.670000	0.90874	0.643000	0.83706	GAT	ADAL	-	pfam_A/AMP_deaminase_dom		0.313	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ADAL	HGNC	protein_coding	OTTHUMT00000432960.1	G	XM_091156		43628873	1	no_errors	ENST00000422466	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43628873	G	C	43628873	3	2	110	1	0	0	0	0	1	0	0	0	233	942	33	1	254	1	ADAL	15	43628873	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1182473	43628873	58902519	256	16502										
C15orf33	196951	genome.wustl.edu	37	chr15	49860490	49860490	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtatgctcatgaaaagtgtCacataactttctgaaattct	7	7	4	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:49860490C>T	ENST00000299338.6	-	9	1002	c.699G>A	c.(697-699)gtG>gtA	p.V233V	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	233																	TGAAAAGTGTCACATAACTTT	0.284																																																	0													70	67	68					15																	49860490		2194	4294	6488	SO:0001819	synonymous_variant	196951				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.699G>A	15.37:g.49860490C>T			Q86WS2	Silent	SNP	NULL	p.V233	ENST00000299338.6	37	c.699	CCDS32237.1	15																																																																																			FAM227B	-	NULL		0.284	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	C	NM_152647		49860490	-1	no_errors	ENST00000299338	ensembl	human	known	70_37	silent	SNP	0.966	T	T	49860490	C	T	49860490	2	4	110	1	0	0	0	0	0	0	0	1	1795	813	29	1		1	C15orf33	15	49860490	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6231617	49860490	52670902	257	16503										
WDR72	256764	genome.wustl.edu	37	chr15	54003550	54003550	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cacctgttcagcagctgataGatgtaactgtgaccatcttc	8	11	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:54003550G>A	ENST00000396328.1	-	8	1079	c.840C>T	c.(838-840)atC>atT	p.I280I	WDR72_ENST00000559418.1_Silent_p.I280I|WDR72_ENST00000557913.1_Silent_p.I279I|WDR72_ENST00000360509.5_Silent_p.I280I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	280										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCAGCTGATAGATGTAACTGT	0.448																																																	0													117	108	111					15																	54003550		2194	4293	6487	SO:0001819	synonymous_variant	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.840C>T	15.37:g.54003550G>A			Q7Z3I3|Q8N8X2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I280	ENST00000396328.1	37	c.840	CCDS10151.1	15																																																																																			WDR72	-	superfamily_WD40_repeat_dom		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	G	NM_182758		54003550	-1	no_errors	ENST00000360509	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54003550	G	A	54003550	2	1	110	1	0	0	0	0	0	0	0	1	17353	932	33	1		1	WDR72	15	54003550	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4143060	54003550	48527842	258	16504										
BNIP2	663	genome.wustl.edu	37	chr15	59970209	59970209	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acgccagcgtcgtccatcttCtttttcctctgctgctgtgt	8	14	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:59970209C>G	ENST00000607373.1	-	5	575	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	BNIP2_ENST00000415213.2_Missense_Mutation_p.E187Q|BNIP2_ENST00000267859.3_Missense_Mutation_p.E246Q	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	125					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CGTCCATCTTCTTTTTCCTCT	0.413																																					Ovarian(174;1936 1978 6671 8240 38212)												0													150	133	139					15																	59970209		2190	4290	6480	SO:0001583	missense	663			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"BCL2/adenovirus E1B 19kD-interacting protein 2"			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.373G>C	15.37:g.59970209C>G	ENSP00000475320:p.Glu125Gln		B4DS94	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E246Q	ENST00000607373.1	37	c.736		15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212585	0.79240	.	.	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	T;T;T	0.56611	1.1;1.11;0.45	5.72	4.81	0.61882	.	0.048099	0.85682	D	0.000000	T	0.45637	0.1352	L	0.42487	1.325	0.51482	D	0.999927	B;B	0.15473	0.001;0.013	B;B	0.19666	0.01;0.026	T	0.31943	-0.9925	9	.	.	.	-23.2791	14.6798	0.69009	0.0:0.9305:0.0:0.0695	.	125;187	Q12982;Q12982-2	BNIP2_HUMAN;.	Q	246;187;3	ENSP00000267859:E246Q;ENSP00000412767:E187Q;ENSP00000393644:E3Q	.	E	-	1	0	BNIP2	57757501	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	4.550000	0.60733	1.436000	0.47453	0.655000	0.94253	GAA	BNIP2	-	pfam_Bcl2-/adenovirus-E1B		0.413	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	C	NM_004330		59970209	-1	no_errors	ENST00000267859	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59970209	C	G	59970209	3	3	110	1	0	0	0	0	1	0	0	0	1478	922	32	1	595	1	BNIP2	15	59970209	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5966659	59970209	42561183	259	16505										
SNX1	6642	genome.wustl.edu	37	chr15	64404874	64404874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aagaccaagagccacaggatCtctttgcaggcaagtttgga	11	9	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:64404874C>G	ENST00000559844.1	+	2	276	c.262C>G	c.(262-264)Ctc>Gtc	p.L88V	SNX1_ENST00000561026.1_Missense_Mutation_p.L88V|SNX1_ENST00000261889.5_Missense_Mutation_p.L88V|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.L88V|Y_RNA_ENST00000364201.1_RNA			Q13596	SNX1_HUMAN	sorting nexin 1	88					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACAGGATCTCTTTGCAGG	0.383																																																	0													72	66	68					15																	64404874		2203	4300	6503	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.262C>G	15.37:g.64404874C>G	ENSP00000453785:p.Leu88Val		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L88V	ENST00000559844.1	37	c.262	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578395	0.65878	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.64991	-0.13;-0.13;-0.13	5.66	5.66	0.87406	.	0.776462	0.11700	N	0.538074	T	0.71829	0.3386	L	0.55990	1.75	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.974;0.962;0.998	D;D;P;P	0.67725	0.941;0.953;0.611;0.901	T	0.62784	-0.6781	10	0.02654	T	1	-5.3729	16.4602	0.84033	0.0:1.0:0.0:0.0	.	88;88;88;88	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	V	88	ENSP00000369638:L88V;ENSP00000326668:L88V;ENSP00000261889:L88V	ENSP00000261889:L88V	L	+	1	0	SNX1	62191927	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.228000	0.58619	2.670000	0.90874	0.561000	0.74099	CTC	SNX1	-	pfam_Sorting_nexin_N		0.383	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	C	NM_003099		64404874	1	no_errors	ENST00000559844	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64404874	C	G	64404874	3	3	110	1	0	0	0	0	1	0	0	0	14910	913	32	1	268	1	SNX1	15	64404874	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4434665	64404874	38126518	260	16506										
DIS3L	115752	genome.wustl.edu	37	chr15	66625346	66625346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttcttctctatgctaggtaaGaatatccatacaggcctcac	6	11	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:66625346G>C	ENST00000319212.4	+	17	2911	c.2861G>C	c.(2860-2862)aGa>aCa	p.R954T	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.R871T	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	954					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.R871K(1)|p.R954K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCTAGGTAAGAATATCCATA	0.289																																																	2	Substitution - Missense(2)	large_intestine(2)											40	42	41					15																	66625346		2198	4297	6495	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2861G>C	15.37:g.66625346G>C	ENSP00000321711:p.Arg954Thr		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.R954T	ENST00000319212.4	37	c.2861	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184224	0.38609	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.22743	1.95;1.94	5.64	2.41	0.29592	.	0.326495	0.34700	N	0.003747	T	0.21590	0.0520	L	0.56769	1.78	0.20196	N	0.999926	P	0.44627	0.839	P	0.44394	0.448	T	0.09596	-1.0667	10	0.51188	T	0.08	-4.6475	5.6467	0.17594	0.2551:0.0:0.6115:0.1334	.	954	Q8TF46	DI3L1_HUMAN	T	871;954	ENSP00000321583:R871T;ENSP00000321711:R954T	ENSP00000321583:R871T	R	+	2	0	DIS3L	64412400	0.150000	0.22732	0.225000	0.23894	0.955000	0.61496	1.517000	0.35867	0.192000	0.20272	0.655000	0.94253	AGA	DIS3L	-	NULL		0.289	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	G	NM_133375		66625346	1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	0.166	C	C	66625346	G	C	66625346	3	2	110	1	0	0	0	0	1	0	0	0	4546	942	33	1	2927	1	DIS3L	15	66625346	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2220472	66625346	35906046	261	16507										
SMAD3	4088	genome.wustl.edu	37	chr15	67457410	67457410	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtgaatccctaccactaccaGagagtagagacaccaggtat	9	11	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:67457410G>C	ENST00000327367.4	+	2	694	c.384G>C	c.(382-384)caG>caC	p.Q128H	SMAD3_ENST00000540846.2_Missense_Mutation_p.Q23H|SMAD3_ENST00000439724.3_Missense_Mutation_p.Q84H|SMAD3_ENST00000537194.2_5'Flank	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	128	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCACTACCAGAGAGTAGAGA	0.617																																																	0													74	73	73					15																	67457410		2201	4299	6500	SO:0001583	missense	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.384G>C	15.37:g.67457410G>C	ENSP00000332973:p.Gln128His		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q128H	ENST00000327367.4	37	c.384	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009961	0.54361	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724	T;T;T	0.77489	-1.1;-1.1;-1.1	4.39	4.39	0.52855	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.058311	0.64402	D	0.000001	T	0.81336	0.4801	L	0.60455	1.87	0.80722	D	1	P;P	0.45531	0.86;0.708	P;P	0.54590	0.756;0.528	T	0.82577	-0.0388	10	0.66056	D	0.02	.	10.5336	0.44992	0.1425:0.0:0.8575:0.0	.	84;128	B7Z4Z5;P84022	.;SMAD3_HUMAN	H	128;128;23;84	ENSP00000332973:Q128H;ENSP00000437757:Q23H;ENSP00000401133:Q84H	ENSP00000332973:Q128H	Q	+	3	2	SMAD3	65244464	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.570000	0.53834	2.270000	0.75569	0.561000	0.74099	CAG	SMAD3	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.617	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	G	NM_005902		67457410	1	no_errors	ENST00000327367	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67457410	G	C	67457410	3	2	110	1	0	0	0	0	1	0	0	0	14789	933	33	1	468	1	SMAD3	15	67457410	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	832064	67457410	35073982	262	16508										
MAN2C1	4123	genome.wustl.edu	37	chr15	75648960	75648960	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cactcacccttgtgcggcatCagtgcataggtgaactcgtg	11	12	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:75648960C>T	ENST00000267978.5	-	23	2770	c.2724G>A	c.(2722-2724)ctG>ctA	p.L908L	MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000565683.1_Silent_p.L925L|MAN2C1_ENST00000563622.1_Silent_p.L809L|MAN2C1_ENST00000569482.1_Silent_p.L908L|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	908					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTGCGGCATCAGTGCATAGG	0.667																																																	0													20	21	21					15																	75648960		2184	4277	6461	SO:0001819	synonymous_variant	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2724G>A	15.37:g.75648960C>T			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L908	ENST00000267978.5	37	c.2724	CCDS32298.1	15																																																																																			MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.667	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	C			75648960	-1	no_errors	ENST00000267978	ensembl	human	known	70_37	silent	SNP	0.982	T	T	75648960	C	T	75648960	2	4	110	1	0	0	0	0	0	0	0	1	9241	813	29	1		1	MAN2C1	15	75648960	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	8191550	75648960	26882432	263	16509										
RHCG	51458	genome.wustl.edu	37	chr15	90016047	90016047	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	actgagggtcctgagggcttGaaggtggggtcctcagggat	18	7	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:90016047G>T	ENST00000268122.4	-	10	1427	c.1359C>A	c.(1357-1359)ttC>ttA	p.F453L	RHCG_ENST00000544600.1_Intron	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	453					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ctgagggCTTGAAGGTGGGGT	0.602											OREG0023459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													146	103	117					15																	90016047		2176	4262	6438	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1359C>A	15.37:g.90016047G>T	ENSP00000268122:p.Phe453Leu	1271	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.F453L	ENST00000268122.4	37	c.1359	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	G	9.042	0.990023	0.18966	.	.	ENSG00000140519	ENST00000268122;ENST00000536247	T	0.19394	2.15	4.31	4.31	0.51392	.	6.281080	0.00166	N	0.000001	T	0.12732	0.0309	N	0.03608	-0.345	0.54753	D	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	9	.	.	.	-6.1576	12.607	0.56529	0.0:0.0:1.0:0.0	.	453	Q9UBD6	RHCG_HUMAN	L	453;444	ENSP00000268122:F453L	.	F	-	3	2	RHCG	87817051	0.778000	0.28640	0.040000	0.18447	0.096000	0.18686	1.126000	0.31344	2.703000	0.92315	0.655000	0.94253	TTC	RHCG	-	NULL		0.602	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	G	NM_016321		90016047	-1	no_errors	ENST00000268122	ensembl	human	known	70_37	missense	SNP	0.044	T	T	90016047	G	T	90016047	3	4	110	1	0	0	0	0	1	0	0	0	13356	1281	45	3	84	3	RHCG	15	90016047	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	14367087	90016047	12515345	264	16510										
NLRC3	197358	genome.wustl.edu	37	chr16	3598136	3598136	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cctgggcaggccaacttactCtaagctggtgaggctcctgt	12	12	1	1	rs534344755	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:3598136C>T	ENST00000301749.7	-	0	3175				NLRC3_ENST00000448023.2_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAACTTACTCTAAGCTGGTG	0.617																																																	0													28	31	30					16																	3598136		1933	4117	6050			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3598136C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.D970N	ENST00000301749.7	37	c.2908		16	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511236	0.44660	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.65178	-0.14;-0.14;-0.14	4.84	1.4	0.22301	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.28400	0.85	0.22240	N	0.999262	P	0.47106	0.89	D	0.65323	0.934	T	0.49312	-0.8953	10	0.27082	T	0.32	.	7.008	0.24848	0.3524:0.4763:0.1713:0.0	.	970	C9JLH9	.	N	924;895;970	ENSP00000301749:D924N;ENSP00000352039:D895N;ENSP00000414415:D970N	ENSP00000301749:D924N	D	-	1	0	NLRC3	3538137	0.964000	0.33143	0.841000	0.33234	0.318000	0.28184	2.141000	0.42168	0.519000	0.28406	0.557000	0.71058	GAT	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.617	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3598136	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	0.904	T	T	3598136	C	T	3598136	1	4	110	0	1	0	0	0	0	0	0	0	10492	927	32	1		1	NLRC3	16	3598136	RNA	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09		3598136	86756617	265	16511										
USP7	7874	genome.wustl.edu	37	chr16	9002295	9002295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caatgttaggaatttcacacCtttctctgcttcctaaacat	4	11	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:9002295C>T	ENST00000344836.4	-	12	1372	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	USP7_ENST00000535863.1_Missense_Mutation_p.G293S|USP7_ENST00000381886.4_Missense_Mutation_p.G376S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	392	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AATTTCACACCTTTCTCTGCT	0.388																																																	0													156	139	145					16																	9002295		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1174G>A	16.37:g.9002295C>T	ENSP00000343535:p.Gly392Ser		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.G392S	ENST00000344836.4	37	c.1174	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.700880	0.96812	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.28666	1.6;1.6;1.6	5.85	5.85	0.93711	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56384	-0.7988	10	0.66056	D	0.02	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	392;376	Q93009;B7Z815	UBP7_HUMAN;.	S	392;400;293;293;334	ENSP00000343535:G392S;ENSP00000443646:G293S;ENSP00000439272:G334S	ENSP00000343535:G392S	G	-	1	0	USP7	8909796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.767000	0.95098	0.655000	0.94253	GGT	USP7	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	C			9002295	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9002295	C	T	9002295	3	4	110	1	0	0	0	0	1	0	0	0	17119	681	24	4	2214	4	USP7	16	9002295	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5404159	9002295	81352458	266	16512										
KIAA0430	9665	genome.wustl.edu	37	chr16	15704917	15704917	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atctctgatacgatgtcaatCaactcacaaacaccatattc	3	12	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:15704917C>G	ENST00000396368.3	-	19	3872	c.3666G>C	c.(3664-3666)ttG>ttC	p.L1222F	KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1219F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L824F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1222F|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1057F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1219F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1222	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CGATGTCAATCAACTCACAAA	0.403																																																	0													180	164	169					16																	15704917		1934	4148	6082	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3666G>C	16.37:g.15704917C>G	ENSP00000379654:p.Leu1222Phe		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.L1222F	ENST00000396368.3	37	c.3666	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810401	0.70797	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.17	3.21	0.36854	.	0.077238	0.53938	D	0.000044	T	0.66356	0.2781	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.995;0.995;0.996	T	0.64736	-0.6337	9	0.54805	T	0.06	.	11.1551	0.48482	0.0:0.803:0.0:0.197	.	1221;1219;1218;1221	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	F	1222;1057;1162;824;1219;1222;1002	.	ENSP00000315718:L1162F	L	-	3	2	KIAA0430	15612418	0.998000	0.40836	0.903000	0.35520	0.984000	0.73092	1.602000	0.36783	0.499000	0.27970	-0.150000	0.13652	TTG	KIAA0430	-	NULL		0.403	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	C	NM_014647		15704917	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	0.995	G	G	15704917	C	G	15704917	3	3	110	1	0	0	0	0	1	0	0	0	8197	825	29	1	1598	1	KIAA0430	16	15704917	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6702622	15704917	74649836	267	16513										
NOMO2	283820	genome.wustl.edu	37	chr16	18532165	18532165	+	Missense_Mutation	SNP	C	C	T													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gcacgggaggcttggtcattCtttcttcaccttcctcattg							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:18532165C>T	ENST00000381474.3	-	19	2260	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	NOMO2_ENST00000330537.6_Missense_Mutation_p.R732K|NOMO2_ENST00000543392.1_Missense_Mutation_p.R565K	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	732						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTTGGTCATTCTTTCTTCACC	0.557																																																	0													284	288	287					16																	18532165		2196	4298	6494	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2195G>A	16.37:g.18532165C>T	ENSP00000370883:p.Arg732Lys		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.R732K	ENST00000381474.3	37	c.2195	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.538647	0.00143	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.03772	3.84;3.82;3.81	2.81	1.85	0.25348	.	0.333001	0.31747	N	0.007140	T	0.01661	0.0053	N	0.03608	-0.345	0.09310	N	1	B;B	0.17465	0.008;0.022	B;B	0.14578	0.011;0.01	T	0.48175	-0.9058	10	0.05833	T	0.94	-6.4678	5.802	0.18420	0.0:0.8478:0.0:0.1522	.	565;732	Q4G177;Q5JPE7	.;NOMO2_HUMAN	K	732;732;565	ENSP00000331851:R732K;ENSP00000370883:R732K;ENSP00000439970:R565K	ENSP00000331851:R732K	R	-	2	0	NOMO2	18439666	0.469000	0.25846	0.002000	0.10522	0.027000	0.11550	2.216000	0.42871	0.724000	0.32296	0.455000	0.32223	AGA	NOMO2	-	NULL		0.557	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	C	NM_001004060		18532165	-1	no_errors	ENST00000381474	ensembl	human	known	70_37	missense	SNP	0.033	T	T	18532165	C	T	18532165	3	4	110	1	0	0	0	0	1	0	0	0	10556	913	32	1	1668	1	NOMO2	16	18532165	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2827248	18532165	71822588	268	16514	87	2								
NOMO2	283820	genome.wustl.edu	37	chr16	18532172	18532172	+	Missense_Mutation	SNP	C	C	T													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggcttggtcattctttcttCaccttcctcattgccgtttt							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:18532172C>T	ENST00000381474.3	-	19	2253	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	NOMO2_ENST00000330537.6_Missense_Mutation_p.E730K|NOMO2_ENST00000543392.1_Missense_Mutation_p.E563K	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	730						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						ATTCTTTCTTCACCTTCCTCA	0.562																																																	0													284	288	287					16																	18532172		2196	4298	6494	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2188G>A	16.37:g.18532172C>T	ENSP00000370883:p.Glu730Lys		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.E730K	ENST00000381474.3	37	c.2188	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	8.752	0.921426	0.17982	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.03951	3.77;3.75;3.75	3.37	3.37	0.38596	.	0.150564	0.43260	D	0.000582	T	0.02970	0.0088	N	0.14661	0.345	0.36605	D	0.874887	B;B	0.23650	0.089;0.039	B;B	0.21917	0.037;0.014	T	0.27571	-1.0070	10	0.05959	T	0.93	-1.6593	14.2293	0.65879	0.0:1.0:0.0:0.0	.	563;730	Q4G177;Q5JPE7	.;NOMO2_HUMAN	K	730;730;563	ENSP00000331851:E730K;ENSP00000370883:E730K;ENSP00000439970:E563K	ENSP00000331851:E730K	E	-	1	0	NOMO2	18439673	0.100000	0.21855	0.002000	0.10522	0.008000	0.06430	3.305000	0.51873	1.845000	0.53610	0.455000	0.32223	GAA	NOMO2	-	NULL		0.562	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	C	NM_001004060		18532172	-1	no_errors	ENST00000381474	ensembl	human	known	70_37	missense	SNP	0.751	T	T	18532172	C	T	18532172	3	4	110	1	0	0	0	0	1	0	0	0	10556	835	29	1	1675	1	NOMO2	16	18532172	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	7	18532172	71822581	269	16515	87	2								
EARS2	124454	genome.wustl.edu	37	chr16	23568552	23568552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggctgggagcgaaccgcactCgcaccgcaaccccggcatca	12	17	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:23568552C>G	ENST00000563459.1	-	1	119	c.113G>C	c.(112-114)cGa>cCa	p.R38P	EARS2_ENST00000564501.1_Missense_Mutation_p.R38P|EARS2_ENST00000563232.1_Missense_Mutation_p.R38P|UBFD1_ENST00000395878.3_5'Flank|UBFD1_ENST00000567212.1_5'Flank|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000449606.1_Missense_Mutation_p.R38P|UBFD1_ENST00000219638.4_Missense_Mutation_p.S54W			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	38					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GAACCGCACTCGCACCGCAAC	0.701																																																	0													11	16	14					16																	23568552		1963	4115	6078	SO:0001583	missense	56061			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.113G>C	16.37:g.23568552C>G	ENSP00000456467:p.Arg38Pro		B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S54W	ENST00000563459.1	37	c.161	CCDS42132.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210342|4.210342	0.79240|0.79240	.|.	.|.	ENSG00000103356|ENSG00000103353	ENST00000449606;ENST00000341597|ENST00000219638	T|.	0.25414|.	1.8|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88749|0.88749	0.6521|0.6521	H|H	0.99026|0.99026	4.405|4.405	0.35910|0.35910	D|D	0.831013|0.831013	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.94274|0.94274	0.7513|0.7513	10|6	0.87932|0.87932	D|D	0|0	-3.8792|-3.8792	13.9581|13.9581	0.64162|0.64162	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	38;38|.	Q86YH3;Q5JPH6|.	.;SYEM_HUMAN|.	P|W	38|54	ENSP00000395196:R38P|.	ENSP00000343488:R38P|ENSP00000219638:S54W	R|S	-|+	2|2	0|0	EARS2|UBFD1	23476053|23476053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.699000|0.699000	0.40488|0.40488	5.302000|5.302000	0.65733|0.65733	2.754000|2.754000	0.94517|0.94517	0.563000|0.563000	0.77884|0.77884	CGA|TCG	UBFD1	-	NULL		0.701	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000434844.1	C	NM_133451		23568552	1	no_errors	ENST00000219638	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23568552	C	G	23568552	3	3	110	1	0	0	0	0	1	0	0	0	4888	884	31	1	1494	1	EARS2	16	23568552	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5036380	23568552	66786201	270	16516										
SEZ6L2	26470	genome.wustl.edu	37	chr16	29910335	29910335	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggtgctgggccctgggagtCcccatggcgactcaccccga	15	15	1	0	rs149205260		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:29910335C>T	ENST00000308713.5	-	1	533	c.6G>A	c.(4-6)ggG>ggA	p.G2G	SEZ6L2_ENST00000562159.1_5'Flank|ASPHD1_ENST00000483405.1_5'Flank|ASPHD1_ENST00000308748.5_5'Flank|SEZ6L2_ENST00000346932.5_Silent_p.G2G|SEZ6L2_ENST00000350527.3_Silent_p.G2G|SEZ6L2_ENST00000537485.1_Silent_p.G2G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	2					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCTGGGAGTCCCCATGGCGA	0.572																																																	0								C	,,,	1,4391	2.1+/-5.4	0,1,2195	22	26	25		6,6,6,6	3.6	1	16	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,,,	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	,,,	2/841,2/810,2/854,2/911	29910335	1,12989	2196	4299	6495	SO:0001819	synonymous_variant	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.6G>A	16.37:g.29910335C>T			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G2	ENST00000308713.5	37	c.6	CCDS10659.1	16																																																																																			SEZ6L2	-	NULL		0.572	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	C	NM_012410		29910335	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29910335	C	T	29910335	2	4	110	1	0	0	0	0	0	0	0	1	14174	842	30	1		1	SEZ6L2	16	29910335	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6341783	29910335	60444418	271	16517										
ZNF768	79724	genome.wustl.edu	37	chr16	30537365	30537365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcctcttcctcattctcactCatgttgcctgcaggatgaga	7	13	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:30537365C>T	ENST00000380412.5	-	2	271	c.96G>A	c.(94-96)atG>atA	p.M32I	ZNF768_ENST00000562803.1_Start_Codon_SNP_p.M1I|ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	32					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CATTCTCACTCATGTTGCCTG	0.512																																																	0													102	101	101					16																	30537365		2197	4300	6497	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.96G>A	16.37:g.30537365C>T	ENSP00000369777:p.Met32Ile		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M32I	ENST00000380412.5	37	c.96	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399809	0.25291	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06142	3.34	4.91	1.61	0.23674	.	1.049910	0.07502	N	0.907389	T	0.04272	0.0118	N	0.14661	0.345	0.50813	D	0.999898	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	10	0.34782	T	0.22	0.2958	5.9173	0.19061	0.0:0.6464:0.153:0.2006	.	32	Q9H5H4	ZN768_HUMAN	I	32;1	ENSP00000369777:M32I	ENSP00000369777:M32I	M	-	3	0	ZNF768	30444866	0.169000	0.23002	0.886000	0.34754	0.967000	0.64934	0.096000	0.15147	0.164000	0.19529	0.561000	0.74099	ATG	ZNF768	-	NULL		0.512	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	C	NM_024671		30537365	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	missense	SNP	0.721	T	T	30537365	C	T	30537365	3	4	110	1	0	0	0	0	1	0	0	0	18171	826	29	1	1530	1	ZNF768	16	30537365	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	627030	30537365	59817388	272	16518										
ZNF768	79724	genome.wustl.edu	37	chr16	30537662	30537662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctcacctctgaggtacccttCggggctcctcatttcgtcag	9	15	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:30537662C>T	ENST00000380412.5	-	1	248	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	25					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGGTACCCTTCGGGGCTCCTC	0.711																																																	0													34	36	35					16																	30537662		2197	4300	6497	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.73G>A	16.37:g.30537662C>T	ENSP00000369777:p.Glu25Lys		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E25K	ENST00000380412.5	37	c.73	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700785	0.30142	.	.	ENSG00000169957	ENST00000380412	T	0.07114	3.22	5.05	2.95	0.34219	.	0.154985	0.30401	N	0.009711	T	0.04137	0.0115	N	0.19112	0.55	0.38465	D	0.947324	B	0.28258	0.205	B	0.16289	0.015	T	0.39542	-0.9609	10	0.10377	T	0.69	-2.9734	8.1392	0.31073	0.0:0.603:0.3062:0.0908	.	25	Q9H5H4	ZN768_HUMAN	K	25	ENSP00000369777:E25K	ENSP00000369777:E25K	E	-	1	0	ZNF768	30445163	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	0.150000	0.16263	1.353000	0.45828	0.561000	0.74099	GAA	ZNF768	-	NULL		0.711	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	C	NM_024671		30537662	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	missense	SNP	0.489	T	T	30537662	C	T	30537662	3	4	110	1	0	0	0	0	1	0	0	0	18171	893	31	1	1557	1	ZNF768	16	30537662	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	297	30537662	59817091	273	16519										
OGFOD1	55239	genome.wustl.edu	37	chr16	56500113	56500113	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaagggcgccggattgccttCatcctgtacctggttcctcc	11	14	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:56500113C>T	ENST00000566157.1	+	5	621	c.498C>T	c.(496-498)ttC>ttT	p.F166F	OGFOD1_ENST00000568397.1_Silent_p.F166F	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	166	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GGATTGCCTTCATCCTGTACC	0.517																																																	0													178	129	146					16																	56500113		2198	4300	6498	SO:0001819	synonymous_variant	55239			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.498C>T	16.37:g.56500113C>T			H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Silent	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.F166	ENST00000566157.1	37	c.498	CCDS10761.2	16																																																																																			OGFOD1	-	smart_Pro_4_hyd_alph		0.517	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	C	NM_018233		56500113	1	no_errors	ENST00000566157	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56500113	C	T	56500113	2	4	110	1	0	0	0	0	0	0	0	1	10865	825	29	1		1	OGFOD1	16	56500113	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	25962451	56500113	33854640	274	16520										
CDH8	1006	genome.wustl.edu	37	chr16	61747856	61747856	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtccatggcgctaacagtttGaatgacctgaaacataaaac	8	9	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:61747856G>C	ENST00000577390.1	-	10	2497	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.Q515E|CDH8_ENST00000577730.1_Missense_Mutation_p.Q515E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTAACAGTTTGAATGACCTGA	0.398																																																	0													133	137	136					16																	61747856		2202	4300	6502	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1543C>G	16.37:g.61747856G>C	ENSP00000462701:p.Gln515Glu		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S474*	ENST00000577390.1	37	c.1421	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	G	43	10.364328	0.99391	.	.	ENSG00000150394	ENST00000299345	T	0.01665	4.7	6.07	6.07	0.98685	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	L	0.43598	1.365	0.80722	D	1	P	0.47604	0.898	P	0.58620	0.842	T	0.15809	-1.0424	10	0.52906	T	0.07	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	515	P55286	CADH8_HUMAN	E	515	ENSP00000299345:Q515E	ENSP00000299345:Q515E	Q	-	1	0	CDH8	60305357	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.961000	0.93122	2.885000	0.99019	0.655000	0.94253	CAA	CDH8	-	smart_Cadherin		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	G	NM_001796		61747856	-1	no_errors	ENST00000585315	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	61747856	G	C	61747856	3	2	110	1	0	0	0	0	1	0	0	0	3121	1299	45	1	868	1	CDH8	16	61747856	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5247743	61747856	28606897	275	16521										
TSNAXIP1	55815	genome.wustl.edu	37	chr16	67855080	67855080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aactacctacgcaaggagctCctcctgctggacctgggcac	10	15	0	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:67855080C>G	ENST00000415766.3	+	3	611	c.226C>G	c.(226-228)Cct>Gct	p.P76A	TSNAXIP1_ENST00000388833.3_Silent_p.L59L|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Silent_p.L113L					translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCAAGGAGCTCCTCCTGCTGG	0.597																																																	0													25	29	28					16																	67855080		1981	4139	6120	SO:0001583	missense	55815			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000415766.3:c.226C>G	16.37:g.67855080C>G	ENSP00000411472:p.Pro76Ala			Missense_Mutation	SNP	NULL	p.P76A	ENST00000415766.3	37	c.226		16	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598250	0.66332	.	.	ENSG00000102904	ENST00000415766	.	.	.	4.48	-0.18	0.13295	.	.	.	.	.	T	0.41190	0.1148	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.18085	-1.0348	7	0.40728	T	0.16	-14.7332	6.2187	0.20669	0.0:0.3996:0.4115:0.1889	.	76	E7ENJ7	.	A	76	.	ENSP00000411472:P76A	P	+	1	0	TSNAXIP1	66412581	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.525000	0.22956	0.217000	0.20800	0.643000	0.83706	CCT	TSNAXIP1	-	NULL		0.597	TSNAXIP1-004	NOVEL	basic|appris_candidate	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000421801.1	C	NM_018430		67855080	1	no_errors	ENST00000563363	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67855080	C	G	67855080	3	3	110	1	0	0	0	0	1	0	0	0	16663	842	30	1	183	1	TSNAXIP1	16	67855080	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6107224	67855080	22499673	276	16522										
PMFBP1	83449	genome.wustl.edu	37	chr16	72154011	72154011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtgggaaggagaggaaggacGggttgtgttggggctgctgg	23	3	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:72154011G>A	ENST00000355636.6	-	20	2984	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C	PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000537465.1_Intron	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	928						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAAGGACGGGTTGTGTTG	0.517																																																	0													205	226	219					16																	72154011		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000355636.6:c.2371C>T	16.37:g.72154011G>A	ENSP00000347854:p.Arg791Cys		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.R791C	ENST00000355636.6	37	c.2371		16	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943300	0.53079	.	.	ENSG00000118557	ENST00000355636	T	0.15952	2.38	4.66	2.34	0.29019	.	.	.	.	.	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40664	-0.9551	6	.	.	.	.	6.9738	0.24664	0.8037:0.0:0.1963:0.0	.	.	.	.	C	791	ENSP00000347854:R791C	.	R	-	1	0	PMFBP1	70711512	0.017000	0.18338	0.001000	0.08648	0.036000	0.12997	0.455000	0.21843	0.358000	0.24211	-0.373000	0.07131	CGT	PMFBP1	-	NULL		0.517	PMFBP1-201	KNOWN	basic|appris_candidate	protein_coding	PMFBP1	HGNC	protein_coding		G	NM_031293		72154011	-1	no_errors	ENST00000355636	ensembl	human	known	70_37	missense	SNP	0.002	A	A	72154011	G	A	72154011	3	1	110	1	0	0	0	0	1	0	0	0	12158	1116	39	2	285	2	PMFBP1	16	72154011	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4298931	72154011	18200742	277	16523										
ZNF778	197320	genome.wustl.edu	37	chr16	89294284	89294284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acatgcggacacacaccgggGagaagccctatgaatgtaag	12	10	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:89294284G>A	ENST00000433976.2	+	6	1836	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E460K	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACACCGGGGAGAAGCCCTA	0.488																																																	0													70	77	75					16																	89294284		2194	4300	6494	SO:0001583	missense	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1504G>A	16.37:g.89294284G>A	ENSP00000405289:p.Glu502Lys		Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E502K	ENST00000433976.2	37	c.1504	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529218	0.85706	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.24350	1.86;1.86	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	M	0.62154	1.92	0.28593	N	0.909555	D;D	0.69078	0.996;0.997	D;D	0.69824	0.918;0.966	T	0.20773	-1.0265	9	0.72032	D	0.01	.	8.1571	0.31176	0.0:0.0:1.0:0.0	.	460;502	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	K	502;460	ENSP00000405289:E502K;ENSP00000305203:E460K	ENSP00000305203:E460K	E	+	1	0	ZNF778	87821785	0.977000	0.34250	0.696000	0.30242	0.501000	0.33797	3.927000	0.56499	0.916000	0.36871	0.545000	0.68477	GAG	ZNF778	-	pfscan_Znf_C2H2		0.488	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	G	NM_182531		89294284	1	no_errors	ENST00000433976	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89294284	G	A	89294284	3	1	110	1	0	0	0	0	1	0	0	0	18181	1175	41	1	1522	1	ZNF778	16	89294284	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	17140273	89294284	1060469	278	16524										
WDR81	124997	genome.wustl.edu	37	chr17	1634415	1634415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaacagccgtaaggaggcGgggctgctggccgcggtgac	18	11	0	2	rs377573673		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:1634415G>A	ENST00000409644.1	+	4	4020	c.4020G>A	c.(4018-4020)gcG>gcA	p.A1340A	WDR81_ENST00000419248.1_Silent_p.A113A|WDR81_ENST00000437219.2_Silent_p.A137A|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000309182.5_Silent_p.A289A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1340					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTAAGGAGGCGGGGCTGCTGG	0.657																																																	0								G	,,,	0,4406		0,0,2203	40	36	37		411,4020,339,867	-11.6	0.2	17		37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	137/739,1340/1942,113/715,289/891	1634415	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4020G>A	17.37:g.1634415G>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1340	ENST00000409644.1	37	c.4020	CCDS54062.1	17																																																																																			WDR81	-	NULL		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1634415	1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	0.045	A	A	1634415	G	A	1634415	2	1	110	1	0	0	0	0	0	0	0	1	17361	1103	39	2		2	WDR81	17	1634415	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		1634415	79560795	279	16525										
ATP2A3	489	genome.wustl.edu	37	chr17	3839609	3839609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccagccactgatgagggcttCtcgggggctccggggcagct	16	13	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:3839609C>T	ENST00000352011.3	-	16	2530	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	ATP2A3_ENST00000359983.3_Missense_Mutation_p.E826K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E826K|ATP2A3_ENST00000309890.7_Missense_Mutation_p.E826K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E826K|ATP2A3_ENST00000397039.1_Missense_Mutation_p.E10K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E826K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	826					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATGAGGGCTTCTCGGGGGCTC	0.617																																					GBM(32;29 774 15719 37967)												0													57	62	61					17																	3839609		2203	4300	6503	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2476G>A	17.37:g.3839609C>T	ENSP00000301387:p.Glu826Lys		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.E826K	ENST00000352011.3	37	c.2476	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.089372	0.94149	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	4.43	4.43	0.53597	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.052969	0.85682	D	0.000000	D	0.95519	0.8544	M	0.90977	3.165	0.80722	D	1	D;D;P;D;D;D	0.67145	0.996;0.971;0.924;0.971;0.971;0.971	D;D;P;P;P;P	0.77004	0.989;0.936;0.879;0.907;0.907;0.907	D	0.96201	0.9145	10	0.87932	D	0	.	17.3058	0.87194	0.0:1.0:0.0:0.0	.	826;826;826;826;826;826	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	826;10;826;826;826;826;826;826	ENSP00000380236:E826K;ENSP00000380232:E10K;ENSP00000301387:E826K;ENSP00000353072:E826K;ENSP00000380234:E826K;ENSP00000312577:E826K;ENSP00000380229:E826K	ENSP00000312577:E826K	E	-	1	0	ATP2A3	3786358	1.000000	0.71417	0.964000	0.40570	0.817000	0.46193	7.651000	0.83577	2.756000	0.94617	0.561000	0.74099	GAA	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp		0.617	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3839609	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3839609	C	T	3839609	3	4	110	1	0	0	0	0	1	0	0	0	1139	922	32	1	758	1	ATP2A3	17	3839609	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2205194	3839609	77355601	280	16526										
ATP2A3	489	genome.wustl.edu	37	chr17	3839724	3839724	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagagcagctgcacagggatCagggcttcgggcaggcccag	16	12	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:3839724C>T	ENST00000352011.3	-	16	2415	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	ATP2A3_ENST00000359983.3_Silent_p.L787L|ATP2A3_ENST00000397035.3_Silent_p.L787L|ATP2A3_ENST00000309890.7_Silent_p.L787L|ATP2A3_ENST00000397041.3_Silent_p.L787L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.L787L			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	787					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCACAGGGATCAGGGCTTCGG	0.627																																					GBM(32;29 774 15719 37967)												0													77	79	78					17																	3839724		2203	4300	6503	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2361G>A	17.37:g.3839724C>T			A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.L787	ENST00000352011.3	37	c.2361	CCDS11041.1	17																																																																																			ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp		0.627	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3839724	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3839724	C	T	3839724	2	4	110	1	0	0	0	0	0	0	0	1	1139	813	29	1		1	ATP2A3	17	3839724	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	115	3839724	77355486	281	16527										
WSCD1	23302	genome.wustl.edu	37	chr17	6014195	6014195	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catgggcacggcacctcattGagcatgccactggcttctat	10	13	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:6014195G>A	ENST00000574946.1	+	7	1504	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	WSCD1_ENST00000317744.5_Missense_Mutation_p.E372K|WSCD1_ENST00000573634.1_Missense_Mutation_p.E256K|WSCD1_ENST00000539421.1_Missense_Mutation_p.E372K|WSCD1_ENST00000574232.1_Missense_Mutation_p.E372K			Q658N2	WSCD1_HUMAN	WSC domain containing 1	372						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCACCTCATTGAGCATGCCAC	0.517																																																	0													134	123	127					17																	6014195		2203	4300	6503	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1114G>A	17.37:g.6014195G>A	ENSP00000460825:p.Glu372Lys		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.E372K	ENST00000574946.1	37	c.1114	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.112306	0.94339	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.41065	1.01;1.01	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.70241	-0.4926	10	0.49607	T	0.09	-33.8344	16.3924	0.83544	0.0:0.0:1.0:0.0	.	372	Q658N2	WSCD1_HUMAN	K	372	ENSP00000323087:E372K;ENSP00000446032:E372K	ENSP00000323087:E372K	E	+	1	0	WSCD1	5954919	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	9.464000	0.97655	2.444000	0.82710	0.650000	0.86243	GAG	WSCD1	-	NULL		0.517	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	G	NM_015253		6014195	1	no_errors	ENST00000317744	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6014195	G	A	6014195	3	1	110	1	0	0	0	0	1	0	0	0	17437	1291	45	1	1136	1	WSCD1	17	6014195	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2174471	6014195	75181015	282	16528										
SOX15	6665	genome.wustl.edu	37	chr17	7492582	7492582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgccgctggccaggttgcctCttccctgtccgcagcgggaa	13	16	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:7492582C>T	ENST00000250055.2	-	1	906	c.413G>A	c.(412-414)aGa>aAa	p.R138K	SOX15_ENST00000538513.2_Missense_Mutation_p.R138K|SOX15_ENST00000570788.1_Missense_Mutation_p.R138K|MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'Flank	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	138					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						CAGGTTGCCTCTTCCCTGTCC	0.711											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8	7	7					17																	7492582		2143	4174	6317	SO:0001583	missense	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"SRY (sex determining region Y)-boxes"	11196	protein-coding gene	gene with protein product		601297	"SRY (sex determining region Y)-box 20"	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.413G>A	17.37:g.7492582C>T	ENSP00000355354:p.Arg138Lys	642	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R138K	ENST00000250055.2	37	c.413	CCDS32549.1	17	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076941	0.36662	.	.	ENSG00000129194	ENST00000250055;ENST00000538513	D;D	0.95103	-3.61;-3.61	5.27	3.29	0.37713	.	2.700690	0.01100	N	0.005354	D	0.86636	0.5980	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.78112	-0.2331	10	0.06891	T	0.86	.	7.2246	0.26007	0.0:0.7293:0.0:0.2707	.	138	O60248	SOX15_HUMAN	K	138	ENSP00000355354:R138K;ENSP00000439311:R138K	ENSP00000355354:R138K	R	-	2	0	SOX15	7433306	0.000000	0.05858	0.113000	0.21522	0.542000	0.35054	0.214000	0.17541	0.635000	0.30488	0.555000	0.69702	AGA	SOX15	-	NULL		0.711	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	C	NM_006942		7492582	-1	no_errors	ENST00000250055	ensembl	human	known	70_37	missense	SNP	0.000	T	T	7492582	C	T	7492582	3	4	110	1	0	0	0	0	1	0	0	0	14976	913	32	1	296	1	SOX15	17	7492582	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1478387	7492582	73702628	283	16529										
RASD1	51655	genome.wustl.edu	37	chr17	17399274	17399274	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccggacgtgtcgaggatgtcGagctggtagacctcgccgcg	16	12	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:17399274G>C	ENST00000225688.3	-	1	433	c.222C>G	c.(220-222)ctC>ctG	p.L74L	RASD1_ENST00000579152.1_Silent_p.L74L	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	74					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGAGGATGTCGAGCTGGTAGA	0.677																																																	0													109	93	98					17																	17399274		2203	4300	6503	SO:0001819	synonymous_variant	51655			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.222C>G	17.37:g.17399274G>C			B2R709|B4DFF4|Q9NYB4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L74	ENST00000225688.3	37	c.222	CCDS11185.1	17																																																																																			RASD1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.677	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	HGNC	protein_coding	OTTHUMT00000131668.1	G	NM_016084		17399274	-1	no_errors	ENST00000225688	ensembl	human	known	70_37	silent	SNP	0.999	C	C	17399274	G	C	17399274	2	2	110	1	0	0	0	0	0	0	0	1	13096	1045	37	1		1	RASD1	17	17399274	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9906692	17399274	63795936	284	16530										
FAM83G	644815	genome.wustl.edu	37	chr17	18882047	18882047	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccatagggatgcccttgaggCtcacactgtgtgacatgagg	13	10	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:18882047C>G	ENST00000388995.6	-	5	1155	c.932G>C	c.(931-933)aGc>aCc	p.S311T	FAM83G_ENST00000345041.4_Missense_Mutation_p.S311T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S311T|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	311					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCCCTTGAGGCTCACACTGTG	0.617																																																	0																																										SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.932G>C	17.37:g.18882047C>G	ENSP00000373647:p.Ser311Thr		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.S311T	ENST00000388995.6	37	c.932	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904296	0.33628	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.22134	1.97;1.97	4.96	2.97	0.34412	.	0.293259	0.38272	N	0.001755	T	0.22475	0.0542	M	0.66939	2.045	0.28365	N	0.920263	P	0.40909	0.732	B	0.37888	0.26	T	0.07501	-1.0769	10	0.45353	T	0.12	-19.3176	11.2004	0.48739	0.0:0.8496:0.0:0.1504	.	311	A6ND36	FA83G_HUMAN	T	311	ENSP00000373647:S311T;ENSP00000343279:S311T	ENSP00000343279:S311T	S	-	2	0	FAM83G	18822772	1.000000	0.71417	0.924000	0.36721	0.654000	0.38779	3.901000	0.56303	0.509000	0.28195	0.313000	0.20887	AGC	FAM83G	-	NULL		0.617	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	C			18882047	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18882047	C	G	18882047	3	3	110	1	0	0	0	0	1	0	0	0	5657	797	28	4	1547	4	FAM83G	17	18882047	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1482773	18882047	62313163	285	16531										
C17orf75	64149	genome.wustl.edu	37	chr17	30658984	30658984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	taaatctcttcaaattgtttGtgtcttgtatggcctagaaa	7	6	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:30658984G>T	ENST00000577809.1	-	10	1038	c.989C>A	c.(988-990)aCa>aAa	p.T330K	C17orf75_ENST00000225805.4_Missense_Mutation_p.T330K|RP11-227G15.3_ENST00000581915.1_RNA|RP11-227G15.2_ENST00000580360.1_lincRNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	330										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAATTGTTTGTGTCTTGTAT	0.328																																																	0													90	86	87					17																	30658984		1810	4068	5878	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.989C>A	17.37:g.30658984G>T	ENSP00000464275:p.Thr330Lys		Q7Z2H4	Missense_Mutation	SNP	NULL	p.T330K	ENST00000577809.1	37	c.989	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739058	0.30774	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.89	3.9	0.45041	.	0.174176	0.64402	D	0.000006	T	0.45617	0.1351	L	0.44542	1.39	0.37928	D	0.931911	P	0.45827	0.867	B	0.44044	0.439	T	0.54063	-0.8349	9	0.66056	D	0.02	-12.1126	8.1979	0.31407	0.269:0.0:0.731:0.0	.	330	Q9HAS0	NJMU_HUMAN	K	330	.	ENSP00000225805:T330K	T	-	2	0	C17orf75	27683097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.746000	0.55127	1.508000	0.48769	0.561000	0.74099	ACA	C17orf75	-	NULL		0.328	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	G	NM_022344		30658984	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30658984	G	T	30658984	3	4	110	1	0	0	0	0	1	0	0	0	1884	1377	48	4	205	4	C17orf75	17	30658984	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	11776937	30658984	50536226	286	16532										
KRT34	3885	genome.wustl.edu	37	chr17	39538343	39538343	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtctccttctcgctgccattGaaggagccctcacagaacca	8	15	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:39538343G>A	ENST00000394001.1	-	1	312	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	94	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CGCTGCCATTGAAGGAGCCCT	0.637																																																	0													108	100	103					17																	39538343		2203	4300	6503	SO:0001819	synonymous_variant	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.282C>T	17.37:g.39538343G>A			Q8IUT8|Q8N4W2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F94	ENST00000394001.1	37	c.282	CCDS11390.1	17																																																																																			KRT34	-	NULL		0.637	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	G	NM_021013		39538343	-1	no_errors	ENST00000394001	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39538343	G	A	39538343	2	1	110	1	0	0	0	0	0	0	0	1	8491	1281	45	1		1	KRT34	17	39538343	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	8879359	39538343	41656867	287	16533										
MEOX1	4222	genome.wustl.edu	37	chr17	41738509	41738509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cccaagcaccccgtagtcatCgcctgggcctcctgtggtgt	11	16	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:41738509C>T	ENST00000318579.4	-	1	813	c.394G>A	c.(394-396)Gat>Aat	p.D132N	MEOX1_ENST00000549132.1_Silent_p.A102A|MEOX1_ENST00000329168.3_Missense_Mutation_p.D132N|MEOX1_ENST00000393661.2_Missense_Mutation_p.D17N	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	132					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCGTAGTCATCGCCTGGGCCT	0.627																																																	0													117	126	123					17																	41738509		2203	4300	6503	SO:0001583	missense	4222				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.394G>A	17.37:g.41738509C>T	ENSP00000321684:p.Asp132Asn		A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D132N	ENST00000318579.4	37	c.394	CCDS11466.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601624	0.46423	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.90788	-2.71;0.9;-2.73	4.92	4.92	0.64577	.	0.108901	0.64402	D	0.000005	T	0.79137	0.4395	N	0.08118	0	0.20764	N	0.999857	P;B	0.35433	0.501;0.103	B;B	0.24394	0.053;0.032	T	0.71334	-0.4624	10	0.34782	T	0.22	-24.8432	16.4865	0.84185	0.0:1.0:0.0:0.0	.	132;132	Q15069;P50221	.;MEOX1_HUMAN	N	132;132;17	ENSP00000321684:D132N;ENSP00000328678:D132N;ENSP00000377271:D17N	ENSP00000321684:D132N	D	-	1	0	MEOX1	39094035	1.000000	0.71417	0.951000	0.38953	0.442000	0.32017	6.673000	0.74482	2.553000	0.86117	0.655000	0.94253	GAT	MEOX1	-	NULL		0.627	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	C			41738509	-1	no_errors	ENST00000318579	ensembl	human	known	70_37	missense	SNP	0.999	T	T	41738509	C	T	41738509	3	4	110	1	0	0	0	0	1	0	0	0	9496	884	31	1	382	1	MEOX1	17	41738509	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2200166	41738509	39456701	288	16534										
SCRN2	90507	genome.wustl.edu	37	chr17	45918151	45918151	+	Missense_Mutation	SNP	G	G	A													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagccgggatggctgaggccGggggcacggagacaaagcag							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:45918151G>A	ENST00000290216.9	-	2	184	c.59C>T	c.(58-60)cCg>cTg	p.P20L	SCRN2_ENST00000407215.3_Missense_Mutation_p.P20L|SCRN2_ENST00000584123.1_Missense_Mutation_p.P28L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	20						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGCTGAGGCCGGGGGCACGGA	0.652																																																	0													29	35	33					17																	45918151		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.59C>T	17.37:g.45918151G>A	ENSP00000290216:p.Pro20Leu		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.P20L	ENST00000290216.9	37	c.59	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	g	34	5.300134	0.95574	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09163	3.14;3.01	5.55	5.55	0.83447	.	0.052627	0.85682	D	0.000000	T	0.27063	0.0663	M	0.85197	2.74	0.80722	D	1	D;D;D	0.53151	0.958;0.958;0.958	B;P;P	0.47470	0.419;0.548;0.548	T	0.09751	-1.0660	10	0.72032	D	0.01	-29.4167	18.2917	0.90133	0.0:0.0:1.0:0.0	.	20;20;20	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	L	20	ENSP00000290216:P20L;ENSP00000383935:P20L	ENSP00000290216:P20L	P	-	2	0	SCRN2	43273150	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.628000	0.98415	2.636000	0.89361	0.651000	0.88453	CCG	SCRN2	-	NULL		0.652	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918151	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45918151	G	A	45918151	3	1	110	1	0	0	0	0	1	0	0	0	13969	1116	39	2	1264	2	SCRN2	17	45918151	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	4179642	45918151	35277059	289	16535	88	2								
SCRN2	90507	genome.wustl.edu	37	chr17	45918160	45918160	+	Missense_Mutation	SNP	G	G	A													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggctgaggccgggggcacgGagacaaagcagtcgcaggaa							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:45918160G>A	ENST00000290216.9	-	2	175	c.50C>T	c.(49-51)tCc>tTc	p.S17F	SCRN2_ENST00000407215.3_Missense_Mutation_p.S17F|SCRN2_ENST00000584123.1_Missense_Mutation_p.S25F	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	17						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CGGGGGCACGGAGACAAAGCA	0.667																																																	0													30	36	34					17																	45918160		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.50C>T	17.37:g.45918160G>A	ENSP00000290216:p.Ser17Phe		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.S17F	ENST00000290216.9	37	c.50	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	g	28.8	4.948242	0.92593	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.08282	3.25;3.11	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66196	0.942;0.942;0.942	T	0.00322	-1.1818	10	0.87932	D	0	-18.6934	18.2917	0.90133	0.0:0.0:1.0:0.0	.	17;17;17	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	F	17	ENSP00000290216:S17F;ENSP00000383935:S17F	ENSP00000290216:S17F	S	-	2	0	SCRN2	43273159	1.000000	0.71417	0.937000	0.37676	0.921000	0.55340	9.625000	0.98406	2.636000	0.89361	0.651000	0.88453	TCC	SCRN2	-	NULL		0.667	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918160	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45918160	G	A	45918160	3	1	110	1	0	0	0	0	1	0	0	0	13969	1174	41	1	1273	1	SCRN2	17	45918160	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9	45918160	35277050	290	16536	88	2								
DLX4	1748	genome.wustl.edu	37	chr17	48051276	48051276	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctggtatcagcatcactcctCagatgtcctggcttcgcctc	8	15	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:48051276C>G	ENST00000240306.3	+	3	987	c.692C>G	c.(691-693)tCa>tGa	p.S231*	DLX4_ENST00000411890.2_Nonsense_Mutation_p.S159*	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	231					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CATCACTCCTCAGATGTCCTG	0.622																																																	0													47	47	47					17																	48051276		2203	4300	6503	SO:0001587	stop_gained	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.692C>G	17.37:g.48051276C>G	ENSP00000240306:p.Ser231*		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S231*	ENST00000240306.3	37	c.692	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.411567	0.97546	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	.	.	.	5.14	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.46061	D	0.998849	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.7495	12.9645	0.58475	0.1614:0.8386:0.0:0.0	.	.	.	.	X	231;159	.	ENSP00000240306:S231X	S	+	2	0	DLX4	45406275	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.889000	0.48601	2.666000	0.90696	0.561000	0.74099	TCA	DLX4	-	NULL		0.622	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	C			48051276	1	no_errors	ENST00000240306	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	48051276	C	G	48051276	4	3	110	1	0	0	0	0	0	1	0	0	4583	838	29	1	769	1	DLX4	17	48051276	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2133116	48051276	33143934	291	16537										
TMEM92	162461	genome.wustl.edu	37	chr17	48355920	48355920	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgtgccctctgaccagtgcCtgccccaaaggattcaaatg	9	14	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:48355920C>G	ENST00000300433.3	+	4	209	c.99C>G	c.(97-99)gcC>gcG	p.A33A	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Silent_p.A33A	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	33						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TGACCAGTGCCTGCCCCAAAG	0.587																																																	0													82	68	73					17																	48355920		2203	4300	6503	SO:0001819	synonymous_variant	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.99C>G	17.37:g.48355920C>G			Q8NBF0	Silent	SNP	NULL	p.A33	ENST00000300433.3	37	c.99	CCDS11562.1	17																																																																																			TMEM92	-	NULL		0.587	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48355920	1	no_errors	ENST00000300433	ensembl	human	known	70_37	silent	SNP	0.682	G	G	48355920	C	G	48355920	2	3	110	1	0	0	0	0	0	0	0	1	16251	668	24	4		4	TMEM92	17	48355920	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	304644	48355920	32839290	292	16538										
HSF5	124535	genome.wustl.edu	37	chr17	56565423	56565423	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtgaagctggtggttttgaaGagctcgggctcggccccggc	17	10	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:56565423G>A	ENST00000323777.3	-	1	322	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	71					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTTTTGAAGAGCTCGGGCT	0.716																																																	0													13	14	14					17																	56565423		2184	4273	6457	SO:0001819	synonymous_variant	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.213C>T	17.37:g.56565423G>A			Q08EH7|Q8N7V2	Silent	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.L71	ENST00000323777.3	37	c.213	CCDS32690.1	17																																																																																			HSF5	-	pfam_HSF_DNA-bd,smart_HSF_DNA-bd		0.716	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	G	XM_064190		56565423	-1	no_errors	ENST00000323777	ensembl	human	known	70_37	silent	SNP	0.986	A	A	56565423	G	A	56565423	2	1	110	1	0	0	0	0	0	0	0	1	7419	929	33	1		1	HSF5	17	56565423	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	8209503	56565423	24629787	293	16539										
KCNJ2	3759	genome.wustl.edu	37	chr17	68172058	68172058	+	Frame_Shift_Del	DEL	A	A	-													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cattgacaacgcagactttgAaatcgtggtcatactggaag							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:68172058delA	ENST00000243457.3	+	2	1261	c.878delA	c.(877-879)gaafs	p.E293fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.E293fs	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	293					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCAGACTTTGAAATCGTGGTC	0.448																																																	0													75	77	76					17																	68172058		2203	4300	6503	SO:0001589	frameshift_variant	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.878delA	17.37:g.68172058delA	ENSP00000243457:p.Glu293fs		O15110|P48049	Frame_Shift_Del	DEL	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.I294fs	ENST00000243457.3	37	c.878	CCDS11688.1	17																																																																																			KCNJ2	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.448	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	A	NM_000891		68172058	1	no_errors	ENST00000243457	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	68172058	A	-	68172058	7	5	110	1	0	1	0	1	0	0	0	0	8071	246	9	0	880	0	KCNJ2	17	68172058	Frame_Shift_Del	DEL	A	TCGA-EK-A2RJ-01A-11D-A18J-09	11606635	68172058	13023152	294	16540										
NT5C	30833	genome.wustl.edu	37	chr17	73126733	73126733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcccagcttggggtctcctcCtggcctaggacagtgaaaga	12	12	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:73126733C>T	ENST00000245552.2	-	5	543	c.456G>A	c.(454-456)caG>caA	p.Q152Q	NT5C_ENST00000579082.1_5'Flank|NT5C_ENST00000582170.1_Splice_Site|NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582160.1_Silent_p.Q66Q	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	152					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	GGGTCTCCTCCTGGCCTAGGA	0.607											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	62	63					17																	73126733		2203	4300	6503	SO:0001819	synonymous_variant	30833			AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.456G>A	17.37:g.73126733C>T		1142	Q96HS6|Q9NP82	Splice_Site	SNP	-	e5-1	ENST00000245552.2	37	c.452-1	CCDS11715.1	17																																																																																			NT5C	-	-		0.607	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C	HGNC	protein_coding	OTTHUMT00000445853.1	C			73126733	-1	no_errors	ENST00000582170	ensembl	human	putative	70_37	splice_site	SNP	0.006	T	T	73126733	C	T	73126733	2	4	110	1	0	0	0	0	0	0	0	1	10708	680	24	4		4	NT5C	17	73126733	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4954675	73126733	8068477	295	16541										
NUP85	79902	genome.wustl.edu	37	chr17	73201869	73201869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcggcgctatggaggagctcGatggcgagccaacagtcact	14	11	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:73201869G>A	ENST00000245544.4	+	1	84	c.13G>A	c.(13-15)Gat>Aat	p.D5N	NUP85_ENST00000579298.1_Missense_Mutation_p.D5N|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_De_novo_Start_OutOfFrame|NUP85_ENST00000541827.1_De_novo_Start_OutOfFrame|NUP85_ENST00000447371.2_De_novo_Start_InFrame	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	5					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GGAGGAGCTCGATGGCGAGCC	0.597																																																	0													94	78	83					17																	73201869		2203	4300	6503	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.13G>A	17.37:g.73201869G>A	ENSP00000245544:p.Asp5Asn		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.D5N	ENST00000245544.4	37	c.13	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.214713	0.95104	.	.	ENSG00000125450	ENST00000245544	.	.	.	5.37	5.37	0.77165	.	0.041572	0.85682	D	0.000000	T	0.77011	0.4068	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77832	-0.2441	9	0.59425	D	0.04	-25.7305	16.396	0.83605	0.0:0.0:1.0:0.0	.	5	Q9BW27	NUP85_HUMAN	N	5	.	ENSP00000245544:D5N	D	+	1	0	NUP85	70713464	1.000000	0.71417	0.737000	0.30932	0.460000	0.32559	6.103000	0.71492	2.667000	0.90743	0.563000	0.77884	GAT	NUP85	-	NULL		0.597	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	G	NM_024844		73201869	1	no_errors	ENST00000245544	ensembl	human	known	70_37	missense	SNP	0.997	A	A	73201869	G	A	73201869	3	1	110	1	0	0	0	0	1	0	0	0	10794	1058	37	1	15	1	NUP85	17	73201869	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	75136	73201869	7993341	296	16542										
RECQL5	9400	genome.wustl.edu	37	chr17	73624459	73624459	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgagacgctgcccttgacctCagctacgacggagggcttgg	14	13	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:73624459C>T	ENST00000317905.5	-	18	2803	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E855K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	882					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTTGACCTCAGCTACGACG	0.642								Other identified genes with known or suspected DNA repair function																																									0													61	73	69					17																	73624459		2085	4197	6282	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2644G>A	17.37:g.73624459C>T	ENSP00000317636:p.Glu882Lys		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E882K	ENST00000317905.5	37	c.2644	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767491	0.49574	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.56611	0.45	5.48	5.48	0.80851	.	0.301034	0.28047	N	0.016809	T	0.63815	0.2543	L	0.57536	1.79	0.80722	D	1	B;B;D	0.65815	0.329;0.329;0.995	B;B;D	0.64144	0.065;0.065;0.922	T	0.57452	-0.7809	10	0.18276	T	0.48	-29.9562	13.3668	0.60689	0.0:0.7347:0.2653:0.0	.	882;855;78	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	K	477;882;882	ENSP00000317636:E882K	ENSP00000317636:E882K	E	-	1	0	RECQL5	71136054	0.837000	0.29446	0.461000	0.27105	0.010000	0.07245	2.190000	0.42630	2.568000	0.86640	0.563000	0.77884	GAG	RECQL5	-	NULL		0.642	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	C	NM_004259		73624459	-1	no_errors	ENST00000317905	ensembl	human	known	70_37	missense	SNP	0.831	T	T	73624459	C	T	73624459	3	4	110	1	0	0	0	0	1	0	0	0	13233	835	29	1	343	1	RECQL5	17	73624459	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	422590	73624459	7570751	297	16543										
BIRC5	332	genome.wustl.edu	37	chr17	76212746	76212746	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gttgttttgatttttctagaGaggaacataaaaagcattcg	9	4	1	2	rs368114063		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:76212746G>C	ENST00000600484.1	-	6	850	c.851C>G	c.(850-852)tCt>tGt	p.S284C	BIRC5_ENST00000350051.3_Splice_Site_p.E75Q|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000301633.4_Splice_Site_p.E98Q|BIRC5_ENST00000592734.1_Intron																							TTTTTCTAGAGAGGAACATAA	0.493																																																	0													73	81	79					17																	76212746		2203	4300	6503	SO:0001583	missense	0																														ENST00000600484.1:c.851C>G	17.37:g.76212746G>C	ENSP00000473193:p.Ser284Cys			Missense_Mutation	SNP	NULL	p.S284C	ENST00000600484.1	37	c.851		17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014345	0.35511	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.72942	3.71;-0.7	5.4	3.28	0.37604	Baculoviral inhibition of apoptosis protein repeat (4);	0.282585	0.38959	N	0.001515	T	0.53029	0.1771	N	0.21508	0.67	0.80722	D	1	B;B;B;B	0.16166	0.01;0.004;0.016;0.013	B;B;B;B	0.21151	0.012;0.01;0.033;0.012	T	0.49062	-0.8978	10	0.29301	T	0.29	0.449	9.5997	0.39596	0.0:0.1418:0.6958:0.1624	.	75;75;98;75	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	Q	98;75;98	ENSP00000301633:E98Q;ENSP00000324180:E75Q	ENSP00000301633:E98Q	E	+	1	0	BIRC5	73724341	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.084000	0.30828	2.531000	0.85337	0.462000	0.41574	GAG	AC087645.1	-	NULL		0.493	AC087645.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268310	Clone_based_ensembl_gene	protein_coding		G			76212746	-1	no_errors	ENST00000600484	ensembl	human	known	70_37	missense	SNP	0.989	C	C	76212746	G	C	76212746	3	2	110	1	0	0	0	0	1	0	0	0	1438	956	33	1	306	1	BIRC5	17	76212746	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2588287	76212746	4982464	298	16544										
CARD14	79092	genome.wustl.edu	37	chr17	78166351	78166351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgtccacgggagaagcagcGgctggtgcggatgcatgcca	16	11	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:78166351G>C	ENST00000573882.1	+	11	1825	c.1289G>C	c.(1288-1290)cGg>cCg	p.R430P	CARD14_ENST00000392434.2_Missense_Mutation_p.R193P|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.R430P|CARD14_ENST00000570421.1_Missense_Mutation_p.R430P			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGAAGCAGCGGCTGGTGCGG	0.632																																																	0													53	53	53					17																	78166351		2203	4300	6503	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1289G>C	17.37:g.78166351G>C	ENSP00000458715:p.Arg430Pro		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.R430P	ENST00000573882.1	37	c.1289	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451633	0.43531	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.33438	1.41;1.41	3.64	3.64	0.41730	.	0.412733	0.19215	U	0.119837	T	0.44074	0.1276	M	0.64997	1.995	0.34153	D	0.667712	P;D;P	0.53151	0.929;0.958;0.929	P;P;B	0.55965	0.524;0.788;0.324	T	0.57499	-0.7801	10	0.38643	T	0.18	-32.4395	12.3273	0.55018	0.0:0.0:1.0:0.0	.	430;193;430	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	P	430;193;193	ENSP00000344549:R430P;ENSP00000376229:R193P	ENSP00000308507:R193P	R	+	2	0	CARD14	75780946	0.991000	0.36638	1.000000	0.80357	0.509000	0.34042	0.516000	0.22817	1.854000	0.53819	0.561000	0.74099	CGG	CARD14	-	NULL		0.632	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	G			78166351	1	no_errors	ENST00000344227	ensembl	human	known	70_37	missense	SNP	0.998	C	C	78166351	G	C	78166351	3	2	110	1	0	0	0	0	1	0	0	0	2651	1116	39	2	1319	2	CARD14	17	78166351	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1953605	78166351	3028859	299	16545										
ANKRD12	23253	genome.wustl.edu	37	chr18	9281101	9281101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cccttgttgatgttaacgacGactttgaattgactcctata	7	9	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:9281101G>A	ENST00000262126.4	+	13	6406	c.6166G>A	c.(6166-6168)Gac>Aac	p.D2056N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2033N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D2033N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2056						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGTTAACGACGACTTTGAATT	0.408																																																	0													157	148	151					18																	9281101		2203	4300	6503	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6166G>A	18.37:g.9281101G>A	ENSP00000262126:p.Asp2056Asn		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D2056N	ENST00000262126.4	37	c.6166	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607629	0.87157	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.79845	-1.3;-1.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.90021	0.6884	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.90565	0.4518	10	0.87932	D	0	-15.0898	19.6028	0.95570	0.0:0.0:1.0:0.0	.	2033;2056	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	N	2033;2056	ENSP00000372932:D2033N;ENSP00000262126:D2056N	ENSP00000262126:D2056N	D	+	1	0	ANKRD12	9271101	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.648000	0.89879	0.591000	0.81541	GAC	ANKRD12	-	NULL		0.408	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9281101	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9281101	G	A	9281101	3	1	110	1	0	0	0	0	1	0	0	0	640	1058	37	1	6212	1	ANKRD12	18	9281101	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		9281101	68796147	300	16546										
DSG3	1830	genome.wustl.edu	37	chr18	29056197	29056197	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cacatactatgctctgtacaGaggatccttgctcccgtcta	7	13	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:29056197G>A	ENST00000257189.4	+	16	3057	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	992					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTCTGTACAGAGGATCCTTG	0.463																																																	0													118	114	115					18																	29056197		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2974G>A	18.37:g.29056197G>A	ENSP00000257189:p.Glu992Lys		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.E992K	ENST00000257189.4	37	c.2974	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692035	0.30052	.	.	ENSG00000134757	ENST00000257189	D	0.81996	-1.56	5.54	2.49	0.30216	.	0.393064	0.21052	N	0.080979	T	0.75184	0.3815	L	0.49778	1.585	0.28710	N	0.903604	B	0.20261	0.043	B	0.17979	0.02	T	0.67628	-0.5622	10	0.51188	T	0.08	.	6.5344	0.22344	0.1611:0.2802:0.5587:0.0	.	992	P32926	DSG3_HUMAN	K	992	ENSP00000257189:E992K	ENSP00000257189:E992K	E	+	1	0	DSG3	27310195	0.741000	0.28217	0.927000	0.36925	0.118000	0.20060	0.934000	0.28910	0.755000	0.32990	0.591000	0.81541	GAG	DSG3	-	NULL		0.463	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29056197	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.942	A	A	29056197	G	A	29056197	3	1	110	1	0	0	0	0	1	0	0	0	4788	943	33	1	3036	1	DSG3	18	29056197	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	19775096	29056197	49021051	301	16547										
SLC14A2	8170	genome.wustl.edu	37	chr18	43223998	43223998	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttctgccttgccaccatcatCttcctgctcctgacgacaaa	5	16	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:43223998C>G	ENST00000255226.6	+	10	2040	c.1224C>G	c.(1222-1224)atC>atG	p.I408M	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.I408M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	408					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACCATCATCTTCCTGCTCC	0.542																																																	0													184	176	179					18																	43223998		2203	4300	6503	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1224C>G	18.37:g.43223998C>G	ENSP00000255226:p.Ile408Met		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.I408M	ENST00000255226.6	37	c.1224	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433385	0.62844	.	.	ENSG00000132874	ENST00000255226	T	0.35973	1.28	5.56	4.51	0.55191	.	0.473271	0.23668	N	0.045747	T	0.38772	0.1053	L	0.56280	1.765	0.80722	D	1	P	0.39022	0.655	B	0.43508	0.422	T	0.28650	-1.0037	10	0.62326	D	0.03	-9.196	10.9748	0.47459	0.1326:0.7893:0.0:0.078	.	408	Q15849	UT2_HUMAN	M	408	ENSP00000255226:I408M	ENSP00000255226:I408M	I	+	3	3	SLC14A2	41477996	0.762000	0.28451	1.000000	0.80357	0.989000	0.77384	0.979000	0.29500	2.629000	0.89072	0.655000	0.94253	ATC	SLC14A2	-	pfam_Urea_transporter		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	C			43223998	1	no_errors	ENST00000255226	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43223998	C	G	43223998	3	3	110	1	0	0	0	0	1	0	0	0	14427	903	32	1	1258	1	SLC14A2	18	43223998	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	14167801	43223998	34853250	302	16548										
SERPINB7	8710	genome.wustl.edu	37	chr18	61468247	61468247	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgagaatgacctctctgaaGtaagttacgactgtcatttt	8	8	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:61468247G>T	ENST00000398019.2	+	7	1069		c.e7+1		SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000540675.1_Splice_Site|SERPINB7_ENST00000546027.1_Splice_Site	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTCTCTGAAGTAAGTTACGA	0.373																																																	0													147	140	142					18																	61468247		2203	4300	6503	SO:0001630	splice_region_variant	8710			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.744+1G>T	18.37:g.61468247G>T			B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Splice_Site	SNP	-	e6+1	ENST00000398019.2	37	c.744+1	CCDS11988.1	18	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508523	0.27036	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6127	0.68526	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINB7	59619227	1.000000	0.71417	0.979000	0.43373	0.085000	0.17905	4.871000	0.63042	2.590000	0.87494	0.650000	0.86243	.	SERPINB7	-	-		0.373	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB7	HGNC	protein_coding	OTTHUMT00000134007.1	G	NM_003784	Intron	61468247	1	no_errors	ENST00000336429	ensembl	human	known	70_37	splice_site	SNP	0.994	T	T	61468247	G	T	61468247	5	4	110	1	0	0	0	0	0	0	1	0	14136	1043	36	4	767	4	SERPINB7	18	61468247	Splice_Site	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	18244249	61468247	16609001	303	16549										
HMSD	284293	genome.wustl.edu	37	chr18	61627399	61627399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tggtttttcctagggttttaCagattcctgtggcaaattct	9	7	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:61627399C>T	ENST00000408945.3	+	4	432	c.230C>T	c.(229-231)aCa>aTa	p.T77I	HMSD_ENST00000526932.1_Nonsense_Mutation_p.Q43*|HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	77						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TAGGGTTTTACAGATTCCTGT	0.373																																																	0													65	58	60					18																	61627399		1568	3581	5149	SO:0001583	missense	284293			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.230C>T	18.37:g.61627399C>T	ENSP00000386207:p.Thr77Ile			Nonsense_Mutation	SNP	NULL	p.Q43*	ENST00000408945.3	37	c.127	CCDS42441.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.705|9.705	1.155399|1.155399	0.21454|0.21454	.|.	.|.	ENSG00000221887|ENSG00000221887	ENST00000526932|ENST00000408945	.|D	.|0.82167	.|-1.58	1.7|1.7	0.418|0.418	0.16429|0.16429	.|Serpin domain (2);	.|.	.|.	.|.	.|.	.|T	.|0.60625	.|0.2283	N|N	0.04805|0.04805	-0.155|-0.155	0.34887|0.34887	D|D	0.74517|0.74517	.|B	.|0.19445	.|0.036	.|B	.|0.25987	.|0.065	.|T	.|0.49624	.|-0.8920	.|9	0.87932|0.17832	D|T	0|0.49	.|.	4.519|4.519	0.11950|0.11950	0.6189:0.3811:0.0:0.0|0.6189:0.3811:0.0:0.0	.|.	.|77	.|A8MTL9	.|HMSD_HUMAN	X|I	43|77	.|ENSP00000386207:T77I	ENSP00000431632:Q43X|ENSP00000386207:T77I	Q|T	+|+	1|2	0|0	HMSD|HMSD	59778379|59778379	0.274000|0.274000	0.24191|0.24191	0.734000|0.734000	0.30879|0.30879	0.044000|0.044000	0.14063|0.14063	-0.531000|-0.531000	0.06171|0.06171	-0.055000|-0.055000	0.13244|0.13244	0.313000|0.313000	0.20887|0.20887	CAG|ACA	HMSD	-	NULL		0.373	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMSD	HGNC	protein_coding	OTTHUMT00000134010.2	C	XM_209104		61627399	1	no_errors	ENST00000526932	ensembl	human	known	70_37	nonsense	SNP	0.972	T	T	61627399	C	T	61627399	3	4	110	1	0	0	0	0	1	0	0	0	7266	478	17	4	240	4	HMSD	18	61627399	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	159152	61627399	16449849	304	16550										
DAZAP1	26528	genome.wustl.edu	37	chr19	1430343	1430343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agggcttccctcagggctacGgtgccccgccacagttcagt	12	15	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:1430343G>A	ENST00000233078.4	+	10	1014	c.853G>A	c.(853-855)Ggt>Agt	p.G285S	DAZAP1_ENST00000336761.6_Missense_Mutation_p.G285S	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	285	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGGCTACGGTGCCCCGCC	0.677																																																	0													13	15	15					19																	1430343		2191	4277	6468	SO:0001583	missense	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.853G>A	19.37:g.1430343G>A	ENSP00000233078:p.Gly285Ser		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G285S	ENST00000233078.4	37	c.853	CCDS12065.1	19	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642796	0.29246	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	T;T	0.37058	1.22;1.27	4.99	4.99	0.66335	.	0.140959	0.64402	D	0.000004	T	0.16557	0.0398	N	0.01874	-0.695	0.40397	D	0.979615	B;B;B;B	0.23490	0.012;0.012;0.086;0.021	B;B;B;B	0.12837	0.002;0.002;0.008;0.003	T	0.10613	-1.0622	10	0.25751	T	0.34	.	16.8118	0.85722	0.0:0.0:1.0:0.0	.	352;285;285;51	Q5IRN4;Q96EP5;Q96EP5-2;B3KS63	.;DAZP1_HUMAN;.;.	S	285	ENSP00000233078:G285S;ENSP00000337132:G285S	ENSP00000233078:G285S	G	+	1	0	DAZAP1	1381343	1.000000	0.71417	0.535000	0.28026	0.620000	0.37586	5.864000	0.69575	2.319000	0.78375	0.555000	0.69702	GGT	DAZAP1	-	NULL		0.677	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP1	HGNC	protein_coding	OTTHUMT00000449522.3	G	NM_170711		1430343	1	no_errors	ENST00000233078	ensembl	human	known	70_37	missense	SNP	0.993	A	A	1430343	G	A	1430343	3	1	110	1	0	0	0	0	1	0	0	0	4249	1116	39	2	891	2	DAZAP1	19	1430343	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		1430343	57698640	305	16551										
OAZ1	4946	genome.wustl.edu	37	chr19	2271912	2271912	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agtggcggcagcctctacatCgagatcccgggcggcgcgct	15	14	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:2271912C>G	ENST00000602676.2	+	4	502	c.423C>G	c.(421-423)atC>atG	p.I141M	JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000583542.4_Missense_Mutation_p.I141M|OAZ1_ENST00000322297.4_Missense_Mutation_p.I140M|OAZ1_ENST00000588673.2_Missense_Mutation_p.I170M|OAZ1_ENST00000582888.4_Missense_Mutation_p.I139M			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	141					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GCCTCTACATCGAGATCCCGG	0.642																																																	0													22	26	24					19																	2271912		2036	4192	6228	SO:0001583	missense	4946				CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"antizyme 1"	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.423C>G	19.37:g.2271912C>G	ENSP00000473381:p.Ile141Met		O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.I140M	ENST00000602676.2	37	c.420	CCDS58639.1	19	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336462	0.60963	.	.	ENSG00000104904	ENST00000322297	T	0.51574	0.7	4.53	1.15	0.20763	Acyl-CoA N-acyltransferase (1);	0.229367	0.44097	D	0.000492	T	0.62938	0.2469	M	0.71581	2.175	0.43942	D	0.996604	B	0.33413	0.411	D	0.63488	0.915	T	0.64149	-0.6475	10	0.87932	D	0	.	3.2983	0.06974	0.1875:0.4743:0.0:0.3382	.	141	P54368	OAZ1_HUMAN	M	140	ENSP00000314813:I140M	ENSP00000314813:I140M	I	+	3	3	OAZ1	2222912	0.000000	0.05858	1.000000	0.80357	0.692000	0.40212	-3.857000	0.00349	0.874000	0.35823	0.561000	0.74099	ATC	OAZ1	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.642	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ1	HGNC	protein_coding	OTTHUMT00000467467.2	C	NM_004152		2271912	1	no_errors	ENST00000322297	ensembl	human	known	70_37	missense	SNP	0.978	G	G	2271912	C	G	2271912	3	3	110	1	0	0	0	0	1	0	0	0	10828	874	31	1	434	1	OAZ1	19	2271912	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	841569	2271912	56857071	306	16552										
CELF5	60680	genome.wustl.edu	37	chr19	3224933	3224933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggacctcaagccgctcttcGagcagttcggccgcatctac	10	15	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:3224933G>C	ENST00000292672.2	+	1	233	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	CELF5_ENST00000541430.2_Missense_Mutation_p.E66Q	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	66	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCCGCTCTTCGAGCAGTTCGG	0.672																																																	0													20	19	20					19																	3224933		2203	4295	6498	SO:0001583	missense	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.196G>C	19.37:g.3224933G>C	ENSP00000292672:p.Glu66Gln		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E66Q	ENST00000292672.2	37	c.196	CCDS12106.1	19	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968422	0.53614	.	.	ENSG00000161082	ENST00000292672;ENST00000541430	T;T	0.17213	2.29;2.29	1.21	1.21	0.21127	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.515051	0.14564	U	0.311891	T	0.27559	0.0677	L	0.41356	1.27	0.43195	D	0.995037	D;D	0.89917	0.999;1.0	D;D	0.72338	0.939;0.977	T	0.04400	-1.0954	10	0.59425	D	0.04	.	7.9211	0.29846	0.0:0.0:1.0:0.0	.	66;66	Q8N6W0-2;Q8N6W0	.;CELF5_HUMAN	Q	66	ENSP00000292672:E66Q;ENSP00000443498:E66Q	ENSP00000292672:E66Q	E	+	1	0	CELF5	3175933	1.000000	0.71417	0.984000	0.44739	0.473000	0.32948	8.163000	0.89659	0.617000	0.30160	0.163000	0.16589	GAG	CELF5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.672	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1	G	NM_021938		3224933	1	no_errors	ENST00000292672	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3224933	G	C	3224933	3	2	110	1	0	0	0	0	1	0	0	0	3224	1059	37	1	198	1	CELF5	19	3224933	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	953021	3224933	55904050	307	16553										
UHRF1	29128	genome.wustl.edu	37	chr19	4929293	4929293	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaatgacaccatccagctCctggtccgccagagcctcgt	9	16	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:4929293C>A	ENST00000592666.1	+	0	789							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCATCCAGCTCCTGGTCCGCC	0.632																																																	0													62	67	65					19																	4929293		2184	4273	6457			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929293C>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-		0.632	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	C	NM_001048201		4929293	1	no_errors	ENST00000262952	ensembl	human	known	70_37	rna	SNP	0.968	A	A	4929293	C	A	4929293	1	1	110	0	1	0	0	0	0	0	0	0	16998	842	30	3		3	UHRF1	19	4929293	RNA	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1704360	4929293	54199690	308	16554										
KANK3	256949	genome.wustl.edu	37	chr19	8397920	8397920	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtatccaggagcaggcttgcGatggccaggttcccgtggga	16	10	0	0	rs371284725		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:8397920G>A	ENST00000593649.1	-	7	1979	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	KANK3_ENST00000330915.3_Silent_p.I638I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	638										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCAGGCTTGCGATGGCCAGGT	0.657																																																	0								G		0,4406		0,0,2203	33	27	29		1914	-0.4	0.3	19		29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KANK3	NM_198471.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		638/822	8397920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1914C>T	19.37:g.8397920G>A			Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I638	ENST00000593649.1	37	c.1914		19																																																																																			KANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.657	KANK3-002	KNOWN	basic	protein_coding	KANK3	HGNC	protein_coding	OTTHUMT00000461379.1	G	NM_198471		8397920	-1	no_errors	ENST00000593649	ensembl	human	known	70_37	silent	SNP	0.956	A	A	8397920	G	A	8397920	2	1	110	1	0	0	0	0	0	0	0	1	7998	1048	37	1		1	KANK3	19	8397920	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3468627	8397920	50731063	309	16555										
RAVER1	125950	genome.wustl.edu	37	chr19	10432289	10432289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtgagtctcccaggatgccGggcttctagggacagagcac	15	11	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:10432289G>A	ENST00000293677.6	-	7	1311	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	393	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCAGGATGCCGGGCTTCTAGG	0.677																																																	0													34	41	39					19																	10432289		2012	4153	6165	SO:0001819	synonymous_variant	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1230C>T	19.37:g.10432289G>A			A6NMU4|Q8IY60|Q8TF24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P410	ENST00000293677.6	37	c.1230	CCDS45960.1	19																																																																																			RAVER1	-	NULL		0.677	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	G	NM_133452		10432289	-1	no_errors	ENST00000293677	ensembl	human	known	70_37	silent	SNP	0.142	A	A	10432289	G	A	10432289	2	1	110	1	0	0	0	0	0	0	0	1	13124	1103	39	2		2	RAVER1	19	10432289	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2034369	10432289	48696694	310	16556										
ZNF791	163049	genome.wustl.edu	37	chr19	12739990	12739990	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acaagaattcacaattatgaGaaacctcttgaatgtaagca	6	7	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:12739990G>A	ENST00000343325.4	+	4	1809	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Silent_p.E440E|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Silent_p.E517E|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACAATTATGAGAAACCTCTTG	0.358																																																	0													77	82	81					19																	12739990		2203	4300	6503	SO:0001819	synonymous_variant	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1647G>A	19.37:g.12739990G>A			B7Z586|Q8NC99	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E549	ENST00000343325.4	37	c.1647	CCDS12273.1	19																																																																																			ZNF791	-	pfscan_Znf_C2H2		0.358	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	G	NM_153358		12739990	1	no_errors	ENST00000343325	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12739990	G	A	12739990	2	1	110	1	0	0	0	0	0	0	0	1	18193	933	33	1		1	ZNF791	19	12739990	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2307701	12739990	46388993	311	16557										
MAST1	22983	genome.wustl.edu	37	chr19	12954365	12954365	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cggacggacgccggtggtctCtggcctcgctcccttcatct	12	16	3	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:12954365C>G	ENST00000251472.4	+	4	310	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	MAST1_ENST00000591495.1_Missense_Mutation_p.L87V	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGGTGGTCTCTGGCCTCGCT	0.642																																																	0													66	57	60					19																	12954365		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.271C>G	19.37:g.12954365C>G	ENSP00000251472:p.Leu91Val			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.L91V	ENST00000251472.4	37	c.271	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623970	0.46840	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.27557	1.66	4.43	3.4	0.38934	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.56097	D	0.000037	T	0.27241	0.0668	L	0.31157	0.91	0.39977	D	0.97486	P;B	0.48911	0.917;0.421	P;B	0.52031	0.688;0.264	T	0.06391	-1.0829	10	0.18276	T	0.48	-16.3566	7.036	0.24993	0.0:0.7921:0.0:0.2079	.	91;91	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	V	91	ENSP00000251472:L91V	ENSP00000251472:L91V	L	+	1	2	MAST1	12815365	0.819000	0.29175	1.000000	0.80357	0.994000	0.84299	1.497000	0.35649	0.998000	0.38996	0.655000	0.94253	CTG	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom		0.642	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	C	NM_014975		12954365	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.998	G	G	12954365	C	G	12954365	3	3	110	1	0	0	0	0	1	0	0	0	9347	912	32	1	285	1	MAST1	19	12954365	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	214375	12954365	46174618	312	16558										
MRPL34	64981	genome.wustl.edu	37	chr19	17417161	17417161	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtcatccttcgccgaatgctCaagggccgcaagtcgctgag	12	13	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:17417161C>T	ENST00000252602.1	+	2	477	c.252C>T	c.(250-252)ctC>ctT	p.L84L	MRPL34_ENST00000595444.1_Silent_p.L176L|MRPL34_ENST00000602206.1_3'UTR|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000600434.1_Silent_p.L84L|MRPL34_ENST00000594999.1_Silent_p.L84L	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	84					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						GCCGAATGCTCAAGGGCCGCA	0.627																																																	0													8	11	10					19																	17417161		2160	4251	6411	SO:0001819	synonymous_variant	64981			AB049652	CCDS12356.1	19p13.1	2012-09-13						"Mitochondrial ribosomal proteins / large subunits"	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.252C>T	19.37:g.17417161C>T				Silent	SNP	pfam_Ribosomal_L34,tigrfam_Ribosomal_L34	p.L84	ENST00000252602.1	37	c.252	CCDS12356.1	19																																																																																			MRPL34	-	pfam_Ribosomal_L34,tigrfam_Ribosomal_L34		0.627	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL34	HGNC	protein_coding	OTTHUMT00000463516.1	C	NM_023937		17417161	1	no_errors	ENST00000252602	ensembl	human	known	70_37	silent	SNP	0.670	T	T	17417161	C	T	17417161	2	4	110	1	0	0	0	0	0	0	0	1	9820	813	29	1		1	MRPL34	19	17417161	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4462796	17417161	41711822	313	16559										
ZNF708	7562	genome.wustl.edu	37	chr19	21477341	21477341	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaagactttcacgtatttgtCacactgaactattttgctct	5	9	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:21477341C>G	ENST00000356929.3	-	4	624	c.427G>C	c.(427-429)Gac>Cac	p.D143H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACGTATTTGTCACACTGAACT	0.373																																																	0													153	138	143					19																	21477341		2203	4300	6503	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.427G>C	19.37:g.21477341C>G	ENSP00000349401:p.Asp143His		Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D143H	ENST00000356929.3	37	c.427	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	1.324	-0.598582	0.03744	.	.	ENSG00000182141	ENST00000356929	T	0.35605	1.3	1.07	-2.14	0.07123	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33440	0.0863	M	0.76838	2.35	0.09310	N	1	B	0.19583	0.037	B	0.20384	0.029	T	0.41627	-0.9498	9	0.52906	T	0.07	.	3.4281	0.07418	0.0:0.2135:0.2262:0.5602	.	143	P17019	ZN708_HUMAN	H	143	ENSP00000349401:D143H	ENSP00000349401:D143H	D	-	1	0	ZNF708	21269181	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.231000	0.01206	-0.366000	0.08064	-0.362000	0.07510	GAC	ZNF708	-	pfscan_Znf_C2H2		0.373	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	C	NM_021269		21477341	-1	no_errors	ENST00000356929	ensembl	human	known	70_37	missense	SNP	0.008	G	G	21477341	C	G	21477341	3	3	110	1	0	0	0	0	1	0	0	0	18142	826	29	1	1268	1	ZNF708	19	21477341	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4060180	21477341	37651642	314	16560										
ZNF254	9534	genome.wustl.edu	37	chr19	24289360	24289360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aataaaacaggtattgctgtCtctaagccagacctgatcac	7	10	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:24289360C>T	ENST00000357002.4	+	3	283	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ZNF254_ENST00000339642.6_Silent_p.V56V|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GTATTGCTGTCTCTAAGCCAG	0.398																																																	0													102	115	110					19																	24289360		1511	2709	4220	SO:0001819	synonymous_variant	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.168C>T	19.37:g.24289360C>T			A4QPC0|Q86XL7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V56	ENST00000357002.4	37	c.168	CCDS32983.1	19																																																																																			ZNF254	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	C	NM_004876		24289360	1	no_errors	ENST00000357002	ensembl	human	known	70_37	silent	SNP	0.233	T	T	24289360	C	T	24289360	2	4	110	1	0	0	0	0	0	0	0	1	17828	900	32	1		1	ZNF254	19	24289360	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2812019	24289360	34839623	315	16561										
SCN1B	6324	genome.wustl.edu	37	chr19	35530121	35530121	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gagatgatttactgctacaaGaagatcgctgccgccacgga	11	10	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:35530121G>C	ENST00000262631.5	+	4	686	c.549G>C	c.(547-549)aaG>aaC	p.K183N	HPN_ENST00000597419.1_5'Flank|CTD-2527I21.9_ENST00000601692.1_RNA|HPN_ENST00000262626.2_5'Flank|SCN1B_ENST00000595652.1_Missense_Mutation_p.K112N|SCN1B_ENST00000596348.1_3'UTR|HPN_ENST00000392226.1_5'Flank	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	183					axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGCTACAAGAAGATCGCTG	0.552																																																	0													138	120	126					19																	35530121		2203	4300	6503	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.549G>C	19.37:g.35530121G>C	ENSP00000262631:p.Lys183Asn		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.K183N	ENST00000262631.5	37	c.549	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213593	0.79352	.	.	ENSG00000105711	ENST00000262631	D	0.98234	-4.81	4.09	4.09	0.47781	.	0.065691	0.64402	D	0.000013	D	0.95714	0.8606	L	0.34521	1.04	0.80722	D	1	P;P	0.51791	0.948;0.895	B;B	0.43783	0.431;0.264	D	0.95564	0.8632	10	0.72032	D	0.01	.	11.6924	0.51523	0.0:0.0:1.0:0.0	.	112;183	B4DI92;Q07699	.;SCN1B_HUMAN	N	183	ENSP00000262631:K183N	ENSP00000262631:K183N	K	+	3	2	SCN1B	40221961	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.321000	0.51999	2.121000	0.65114	0.462000	0.41574	AAG	SCN1B	-	NULL		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	G			35530121	1	no_errors	ENST00000262631	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35530121	G	C	35530121	3	2	110	1	0	0	0	0	1	0	0	0	13945	933	33	1	922	1	SCN1B	19	35530121	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	11240761	35530121	23598862	316	16562										
RBM42	79171	genome.wustl.edu	37	chr19	36128198	36128198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggcaagaccaagggctacgGcttcgtcagcttcaaggacc	12	12	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:36128198G>A	ENST00000262633.4	+	9	1379	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	RBM42_ENST00000589871.1_Missense_Mutation_p.G403D|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.G395D|RBM42_ENST00000586618.1_Missense_Mutation_p.G129D|RBM42_ENST00000592202.1_Missense_Mutation_p.G371D|RBM42_ENST00000360475.4_Missense_Mutation_p.G396D	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	425	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGGCTACGGCTTCGTCAGC	0.627																																																	0													112	85	94					19																	36128198		2203	4300	6503	SO:0001583	missense	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1274G>A	19.37:g.36128198G>A	ENSP00000262633:p.Gly425Asp		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G425D	ENST00000262633.4	37	c.1274	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775066	0.70107	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.49432	0.78;0.78	5.78	4.75	0.60458	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050482	0.85682	D	0.000000	T	0.80534	0.4641	H	0.98918	4.37	0.80722	D	1	D;B;D;B	0.89917	1.0;0.004;1.0;0.006	D;B;D;B	0.91635	0.999;0.012;0.998;0.032	D	0.87385	0.2359	10	0.87932	D	0	-2.4997	12.6938	0.56992	0.0794:0.0:0.9206:0.0	.	391;396;395;425	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	D	425;396	ENSP00000262633:G425D;ENSP00000353663:G396D	ENSP00000262633:G425D	G	+	2	0	RBM42	40820038	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.637000	0.98443	1.456000	0.47831	0.655000	0.94253	GGC	RBM42	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.627	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	G	NM_024321		36128198	1	no_errors	ENST00000262633	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36128198	G	A	36128198	3	1	110	1	0	0	0	0	1	0	0	0	13166	1203	42	4	1308	4	RBM42	19	36128198	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	598077	36128198	23000785	317	16563										
APLP1	333	genome.wustl.edu	37	chr19	36365690	36365690	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgctacctgcgtgcggagcaGaaggaacagaggcacacgct	14	12	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:36365690G>C	ENST00000221891.4	+	10	1455	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.Q415H|APLP1_ENST00000537454.2_Missense_Mutation_p.Q382H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	421	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCGGAGCAGAAGGAACAGA	0.652																																																	0													64	49	54					19																	36365690		2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1263G>C	19.37:g.36365690G>C	ENSP00000221891:p.Gln421His		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.Q421H	ENST00000221891.4	37	c.1263	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515566	0.85389	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48201	0.82;0.82	4.72	4.72	0.59763	Amyloidogenic glycoprotein, E2 domain (2);	0.746320	0.11684	N	0.539530	T	0.60196	0.2250	L	0.38175	1.15	0.58432	D	0.999999	D;P;D;D	0.89917	0.999;0.935;1.0;1.0	D;P;D;D	0.79784	0.986;0.782;0.988;0.993	T	0.54351	-0.8307	10	0.40728	T	0.16	-5.4799	15.1758	0.72910	0.0:0.0:1.0:0.0	.	415;382;421;421	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	382;421	ENSP00000441501:Q382H;ENSP00000221891:Q421H	ENSP00000221891:Q421H	Q	+	3	2	APLP1	41057530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.686000	0.61700	2.171000	0.68590	0.555000	0.69702	CAG	APLP1	-	superfamily_Amyloid_glyco_E2_domain		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	G	NM_001024807		36365690	1	no_errors	ENST00000221891	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36365690	G	C	36365690	3	2	110	1	0	0	0	0	1	0	0	0	778	933	33	1	1301	1	APLP1	19	36365690	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	237492	36365690	22763293	318	16564										
GGN	199720	genome.wustl.edu	37	chr19	38875118	38875118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	accagagagccggacagcttGatggtggcaacccagggtgg	16	10	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:38875118G>C	ENST00000334928.6	-	4	2025	c.1893C>G	c.(1891-1893)atC>atG	p.I631M	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	631	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGACAGCTTGATGGTGGCAA	0.617																																																	0													113	97	103					19																	38875118		2203	4300	6503	SO:0001583	missense	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1893C>G	19.37:g.38875118G>C	ENSP00000334940:p.Ile631Met		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.I631M	ENST00000334928.6	37	c.1893	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891847	0.72524	.	.	ENSG00000179168	ENST00000334928	.	.	.	4.59	4.59	0.56863	.	0.396497	0.18454	N	0.140729	T	0.48786	0.1519	N	0.24115	0.695	0.29764	N	0.835323	D	0.69078	0.997	D	0.71870	0.975	T	0.47598	-0.9105	9	0.72032	D	0.01	-8.9628	12.7957	0.57558	0.0:0.0:1.0:0.0	.	631	Q86UU5	GGN_HUMAN	M	631	.	ENSP00000334940:I631M	I	-	3	3	GGN	43566958	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.171000	0.50824	2.369000	0.80426	0.643000	0.83706	ATC	GGN	-	NULL		0.617	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	G	NM_152657		38875118	-1	no_errors	ENST00000334928	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38875118	G	C	38875118	3	2	110	1	0	0	0	0	1	0	0	0	6377	1280	45	1	69	1	GGN	19	38875118	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2509428	38875118	20253865	319	16565										
EIF3K	27335	genome.wustl.edu	37	chr19	39114771	39114771	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtcaccgcccagatcctgctGaaggccctcaccaacttgcc	8	18	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39114771G>T	ENST00000592558.1	+	3	271	c.213G>T	c.(211-213)ctG>ctT	p.L71L	EIF3K_ENST00000588934.1_Silent_p.L71L|EIF3K_ENST00000545173.2_Silent_p.L71L|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000248342.4_Silent_p.L71L|EIF3K_ENST00000538434.1_5'UTR					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGATCCTGCTGAAGGCCCTCA	0.572																																																	0													117	98	105					19																	39114771		2203	4300	6503	SO:0001819	synonymous_variant	27335			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"eukaryotic translation initiation factor 3, subunit 12"	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000592558.1:c.213G>T	19.37:g.39114771G>T				Silent	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.L71	ENST00000592558.1	37	c.213		19																																																																																			EIF3K	-	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold		0.572	EIF3K-012	NOVEL	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453416.1	G	NM_013234		39114771	1	no_errors	ENST00000248342	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39114771	G	T	39114771	2	4	110	1	0	0	0	0	0	0	0	1	5033	1277	45	3		3	EIF3K	19	39114771	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	239653	39114771	20014212	320	16566										
PAK4	10298	genome.wustl.edu	37	chr19	39663791	39663791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggtcacagcgaggcgggtggCggcagtggtgacaggcgacg	21	9	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39663791C>T	ENST00000593690.1	+	5	865	c.438C>T	c.(436-438)ggC>ggT	p.G146G	PAK4_ENST00000321944.4_Intron|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000358301.3_Silent_p.G146G|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000435673.2_Silent_p.G146G|PAK4_ENST00000360442.3_Silent_p.G146G	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	146	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGGCGGGTGGCGGCAGTGGTG	0.716																																																	0													3	4	3					19																	39663791		1774	3612	5386	SO:0001819	synonymous_variant	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.438C>T	19.37:g.39663791C>T			B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.G146	ENST00000593690.1	37	c.438	CCDS12528.1	19																																																																																			PAK4	-	NULL		0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	C			39663791	1	no_errors	ENST00000358301	ensembl	human	known	70_37	silent	SNP	0.021	T	T	39663791	C	T	39663791	2	4	110	1	0	0	0	0	0	0	0	1	11427	755	27	2		2	PAK4	19	39663791	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	549020	39663791	19465192	321	16567										
RPS16	6217	genome.wustl.edu	37	chr19	39923928	39923928	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgggcttatcggtaggatttCtggtagcgagcgcgggcacc	16	9	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39923928C>T	ENST00000251453.3	-	5	478	c.426G>A	c.(424-426)caG>caA	p.Q142Q	RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000601655.1_Silent_p.Q125Q|RPS16_ENST00000339471.4_3'UTR	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	142					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTAGGATTTCTGGTAGCGAG	0.488																																																	0													59	63	62					19																	39923928		2203	4300	6503	SO:0001819	synonymous_variant	6217			M60854	CCDS12535.1	19q13.1	2011-04-05				ENSG00000105193		"S ribosomal proteins"	10396	protein-coding gene	gene with protein product	"40S ribosomal protein S16"	603675				2016298, 9582194	Standard	XM_005259137		Approved	S16	uc002olk.3	P62249		ENST00000251453.3:c.426G>A	19.37:g.39923928C>T			B2RDD5|P17008	Silent	SNP	pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold	p.Q142	ENST00000251453.3	37	c.426	CCDS12535.1	19																																																																																			RPS16	-	pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold		0.488	RPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS16	HGNC	protein_coding	OTTHUMT00000464511.1	C	NM_001020		39923928	-1	no_errors	ENST00000251453	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39923928	C	T	39923928	2	4	110	1	0	0	0	0	0	0	0	1	13657	912	32	1		1	RPS16	19	39923928	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	260137	39923928	19205055	322	16568										
DLL3	10683	genome.wustl.edu	37	chr19	39994804	39994804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctggactggacccctctgcaCggtccctgtctccaccagca	9	18	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39994804C>T	ENST00000205143.4	+	5	753	c.746C>T	c.(745-747)aCg>aTg	p.T249M	DLL3_ENST00000356433.5_Missense_Mutation_p.T249M	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	249	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTCTGCACGGTCCCTGTC	0.672																																																	0													65	63	64					19																	39994804		2203	4300	6503	SO:0001583	missense	10683			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.746C>T	19.37:g.39994804C>T	ENSP00000205143:p.Thr249Met		E9PFG2|Q8NBS4	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.T249M	ENST00000205143.4	37	c.746	CCDS12538.1	19	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068839	0.36470	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89343	-2.44;-2.5	4.87	3.84	0.44239	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.248773	0.28940	N	0.013652	D	0.90810	0.7114	M	0.62723	1.935	0.29589	N	0.848538	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.61722	0.765;0.893;0.893	D	0.85868	0.1414	9	.	.	.	.	7.5745	0.27928	0.164:0.7504:0.0:0.0856	.	249;249;249	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	M	249	ENSP00000348810:T249M;ENSP00000205143:T249M	.	T	+	2	0	DLL3	44686644	.	.	0.866000	0.34008	0.810000	0.45777	.	.	1.424000	0.47217	0.561000	0.74099	ACG	DLL3	-	smart_EG-like_dom		0.672	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	C			39994804	1	no_errors	ENST00000205143	ensembl	human	known	70_37	missense	SNP	0.701	T	T	39994804	C	T	39994804	3	4	110	1	0	0	0	0	1	0	0	0	4577	536	19	2	764	2	DLL3	19	39994804	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	70876	39994804	19134179	323	16569										
GSK3A	2931	genome.wustl.edu	37	chr19	42736279	42736279	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggagggataagaatggcgttGagagacggttggatggagag	20	2	0	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736279G>C	ENST00000222330.3	-	10	1435	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	GSK3A_ENST00000398249.4_Silent_p.L354L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	436					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GAATGGCGTTGAGAGACGGTT	0.532																																																	0													114	101	105					19																	42736279		2203	4300	6503	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1308C>G	19.37:g.42736279G>C			O14959	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L436	ENST00000222330.3	37	c.1308	CCDS12599.1	19																																																																																			GSK3A	-	superfamily_Kinase-like_dom		0.532	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736279	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	silent	SNP	1.000	C	C	42736279	G	C	42736279	2	2	110	1	0	0	0	0	0	0	0	1	6843	1277	45	1		1	GSK3A	19	42736279	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2741475	42736279	16392704	324	16570			1	69		5	4	534	N	G	4.692186e-08
GSK3A	2931	genome.wustl.edu	37	chr19	42736669	42736669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	accagcactgaagttgaagaGagggggaagtgggcggttgt	18	5	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736669G>C	ENST00000222330.3	-	9	1391	c.1264C>G	c.(1264-1266)Ctc>Gtc	p.L422V	GSK3A_ENST00000398249.4_Missense_Mutation_p.L340V	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	422					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				AAGTTGAAGAGAGGGGGAAGT	0.587																																																	0													58	52	54					19																	42736669		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1264C>G	19.37:g.42736669G>C	ENSP00000222330:p.Leu422Val		O14959	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.L422V	ENST00000222330.3	37	c.1264	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068317	0.76301	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.44083	0.93;0.93	5.12	5.12	0.69794	Protein kinase-like domain (1);	0.073658	0.56097	D	0.000038	T	0.53206	0.1782	M	0.88310	2.945	0.58432	D	0.999995	P;P	0.50617	0.937;0.462	B;B	0.44108	0.441;0.42	T	0.65463	-0.6162	10	0.87932	D	0	-26.7213	12.7806	0.57474	0.0:0.0:0.8358:0.1642	.	422;340	P49840;A8MT37	GSK3A_HUMAN;.	V	422;340;367	ENSP00000222330:L422V;ENSP00000381301:L340V	ENSP00000222330:L422V	L	-	1	0	GSK3A	47428509	1.000000	0.71417	0.985000	0.45067	0.841000	0.47740	6.989000	0.76219	2.569000	0.86673	0.561000	0.74099	CTC	GSK3A	-	superfamily_Kinase-like_dom		0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736669	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	missense	SNP	0.997	C	C	42736669	G	C	42736669	3	2	110	1	0	0	0	0	1	0	0	0	6843	942	33	1	199	1	GSK3A	19	42736669	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	390	42736669	16392314	325	16571			1	69		5	4	534	N	G	4.692186e-08
GSK3A	2931	genome.wustl.edu	37	chr19	42736791	42736791	+	Missense_Mutation	SNP	G	G	C													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggtgtactccagcaggctaGagcagagcgcgatggcctct							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736791G>C	ENST00000222330.3	-	9	1269	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	GSK3A_ENST00000398249.4_Missense_Mutation_p.S299C	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CAGCAGGCTAGAGCAGAGCGC	0.597																																																	0													66	66	66					19																	42736791		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1142C>G	19.37:g.42736791G>C	ENSP00000222330:p.Ser381Cys		O14959	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.S381C	ENST00000222330.3	37	c.1142	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901914	0.72754	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.66995	-0.24;-0.24	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.56396	1.775	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.78342	-0.2241	10	0.59425	D	0.04	-18.1132	12.7079	0.57073	0.0:0.28:0.72:0.0	.	381;299	P49840;A8MT37	GSK3A_HUMAN;.	C	381;299;326	ENSP00000222330:S381C;ENSP00000381301:S299C	ENSP00000222330:S381C	S	-	2	0	GSK3A	47428631	1.000000	0.71417	0.971000	0.41717	0.970000	0.65996	3.249000	0.51437	2.571000	0.86741	0.561000	0.74099	TCT	GSK3A	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.597	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736791	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	missense	SNP	0.991	C	C	42736791	G	C	42736791	3	2	110	1	0	0	0	0	1	0	0	0	6843	942	33	1	321	1	GSK3A	19	42736791	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	122	42736791	16392192	326	16572	89	2	1	69		5	4	534	N	G	4.692186e-08
GSK3A	2931	genome.wustl.edu	37	chr19	42736796	42736796	+	Silent	SNP	G	G	A													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tactccagcaggctagagcaGagcgcgatggcctctggcgg					rs201590175		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736796G>A	ENST00000222330.3	-	9	1264	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	GSK3A_ENST00000398249.4_Silent_p.L297L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGCTAGAGCAGAGCGCGATGG	0.587																																																	0													65	64	64					19																	42736796		2203	4300	6503	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1137C>T	19.37:g.42736796G>A			O14959	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L379	ENST00000222330.3	37	c.1137	CCDS12599.1	19																																																																																			GSK3A	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736796	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	silent	SNP	0.999	A	A	42736796	G	A	42736796	2	1	110	1	0	0	0	0	0	0	0	1	6843	929	33	1		1	GSK3A	19	42736796	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5	42736796	16392187	327	16573	89	2	1	69		5	4	534	N	G	4.692186e-08
GSK3A	2931	genome.wustl.edu	37	chr19	42736812	42736812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agcagagcgcgatggcctctGgcggcgttcgagatttgaac	15	10	1	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736812G>A	ENST00000222330.3	-	9	1248	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	GSK3A_ENST00000398249.4_Missense_Mutation_p.P292L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GATGGCCTCTGGCGGCGTTCG	0.582																																																	0													55	55	55					19																	42736812		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1121C>T	19.37:g.42736812G>A	ENSP00000222330:p.Pro374Leu		O14959	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.P374L	ENST00000222330.3	37	c.1121	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401774	0.62288	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.65732	-0.17;-0.17	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.065016	0.64402	D	0.000009	T	0.56016	0.1957	L	0.52011	1.625	0.80722	D	1	B;B	0.25048	0.117;0.005	B;B	0.25759	0.063;0.029	T	0.58329	-0.7655	10	0.62326	D	0.03	-19.1501	11.5671	0.50811	0.0877:0.0:0.9123:0.0	.	374;292	P49840;A8MT37	GSK3A_HUMAN;.	L	374;292;319	ENSP00000222330:P374L;ENSP00000381301:P292L	ENSP00000222330:P374L	P	-	2	0	GSK3A	47428652	1.000000	0.71417	0.635000	0.29338	0.993000	0.82548	4.128000	0.57951	2.468000	0.83385	0.561000	0.74099	CCA	GSK3A	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.582	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736812	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	missense	SNP	0.961	A	A	42736812	G	A	42736812	3	1	110	1	0	0	0	0	1	0	0	0	6843	1348	47	4	342	4	GSK3A	19	42736812	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	16	42736812	16392171	328	16574			1	69		5	4	534	N	G	4.692186e-08
PSG11	5680	genome.wustl.edu	37	chr19	43519492	43519492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ctgaatagtaagaggtgactGaagggaaaattctggggagg	16	3	1	4	rs375462400		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:43519492G>A	ENST00000401740.1	-	4	843	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG11_ENST00000306322.7_Missense_Mutation_p.S125L|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000320078.7_Missense_Mutation_p.S247L|PSG11_ENST00000403486.1_Missense_Mutation_p.S125L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	245	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGAGGTGACTGAAGGGAAAAT	0.468																																																	0								G	LEU/SER,LEU/SER,LEU/SER	0,4398		0,0,2199	114	126	122		374,740,374	-0.2	0	19		122	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	145,145,145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	125/214,247/336,125/214	43519492	1,12993	2199	4298	6497	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.740C>T	19.37:g.43519492G>A	ENSP00000384995:p.Ser247Leu		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S247L	ENST00000401740.1	37	c.740	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	g	11.01	1.513264	0.27123	0.0	1.16E-4	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	0.961	-0.254	0.12992	Immunoglobulin-like (1);	.	.	.	.	T	0.21841	0.0526	M	0.64997	1.995	0.09310	N	1	P;B	0.40144	0.704;0.206	P;B	0.53360	0.724;0.341	T	0.22871	-1.0204	9	0.54805	T	0.06	.	2.8639	0.05595	0.3972:0.0:0.6028:0.0	.	125;247	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	L	247;125;125;247	ENSP00000319140:S247L;ENSP00000385427:S125L;ENSP00000304913:S125L;ENSP00000384995:S247L	ENSP00000304913:S125L	S	-	2	0	PSG11	48211332	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.142000	0.16096	0.437000	0.26423	0.184000	0.17185	TCA	PSG11	-	smart_Ig_sub,pfscan_Ig-like		0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	G	NM_002785		43519492	-1	no_errors	ENST00000320078	ensembl	human	known	70_37	missense	SNP	0.000	A	A	43519492	G	A	43519492	3	1	110	1	0	0	0	0	1	0	0	0	12681	1294	45	1	275	1	PSG11	19	43519492	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	782680	43519492	15609491	329	16575										
PVRL2	5819	genome.wustl.edu	37	chr19	45375367	45375367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aagtggagcatgagagcttcGaggaaccagccctgatacct	12	10	0	2	rs138153191		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:45375367G>A	ENST00000252483.5	+	3	736	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PVRL2_ENST00000252485.4_Missense_Mutation_p.E246K	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	246	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGAGAGCTTCGAGGAACCAGC	0.592																																																	0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	183	135	151		736,736	-8.5	0	19	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PVRL2	NM_001042724.1,NM_002856.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	246/539,246/480	45375367	1,13005	2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.736G>A	19.37:g.45375367G>A	ENSP00000252483:p.Glu246Lys		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E246K	ENST00000252483.5	37	c.736	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261482	0.23051	0.0	1.16E-4	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.76578	-1.03;-1.03	4.25	-8.5	0.00927	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.642500	0.03334	N	0.193855	T	0.59404	0.2191	L	0.28400	0.85	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.17433	0.018;0.01	T	0.45571	-0.9252	10	0.49607	T	0.09	.	1.2	0.01883	0.1661:0.2023:0.4301:0.2015	.	246;246	Q92692;Q92692-2	PVRL2_HUMAN;.	K	246	ENSP00000252483:E246K;ENSP00000252485:E246K	ENSP00000252483:E246K	E	+	1	0	PVRL2	50067207	0.000000	0.05858	0.001000	0.08648	0.909000	0.53808	-3.557000	0.00432	-2.217000	0.00731	-0.367000	0.07326	GAG	PVRL2	-	pfam_CD80_C2-set,pfscan_Ig-like		0.592	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	G	NM_002856		45375367	1	no_errors	ENST00000252483	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45375367	G	A	45375367	3	1	110	1	0	0	0	0	1	0	0	0	12870	1059	37	1	746	1	PVRL2	19	45375367	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1855875	45375367	13753616	330	16576										
VASP	7408	genome.wustl.edu	37	chr19	46026015	46026015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggcccacagcccccaaagctGagagtggtcgaagcggaggt	15	12	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:46026015G>A	ENST00000245932.6	+	7	1116	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	254	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCCCAAAGCTGAGAGTGGTCG	0.617																																																	0													31	36	35					19																	46026015		2203	4300	6503	SO:0001583	missense	7408				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.760G>A	19.37:g.46026015G>A	ENSP00000245932:p.Glu254Lys		B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	pirsf_Vasodilator_phosphoprotein,pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.E254K	ENST00000245932.6	37	c.760	CCDS33051.1	19	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092873	0.56075	.	.	ENSG00000125753	ENST00000245932	T	0.70045	-0.45	3.92	3.92	0.45320	.	0.410430	0.23151	N	0.051342	T	0.60894	0.2304	L	0.54323	1.7	0.36665	D	0.878144	B	0.23058	0.079	B	0.18871	0.023	T	0.66376	-0.5939	10	0.44086	T	0.13	-7.8303	13.4764	0.61312	0.0:0.0:1.0:0.0	.	254	P50552	VASP_HUMAN	K	254	ENSP00000245932:E254K	ENSP00000245932:E254K	E	+	1	0	VASP	50717855	1.000000	0.71417	0.985000	0.45067	0.282000	0.26991	5.679000	0.68160	2.020000	0.59435	0.462000	0.41574	GAG	VASP	-	pirsf_Vasodilator_phosphoprotein		0.617	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	G			46026015	1	no_errors	ENST00000245932	ensembl	human	known	70_37	missense	SNP	0.998	A	A	46026015	G	A	46026015	3	1	110	1	0	0	0	0	1	0	0	0	17159	1291	45	1	786	1	VASP	19	46026015	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	650648	46026015	13102968	331	16577										
DMWD	1762	genome.wustl.edu	37	chr19	46289821	46289821	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggagcatggagtcgaagtgGaagacgcgcaggcagccatc	16	9	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:46289821G>A	ENST00000270223.6	-	3	978	c.933C>T	c.(931-933)ttC>ttT	p.F311F	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.F311F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	311										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGTCGAAGTGGAAGACGCGCA	0.662																																																	0													43	48	47					19																	46289821		2203	4300	6503	SO:0001819	synonymous_variant	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.933C>T	19.37:g.46289821G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F311	ENST00000270223.6	37	c.933	CCDS33054.1	19																																																																																			DMWD	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.662	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	G	NM_004943		46289821	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	silent	SNP	1.000	A	A	46289821	G	A	46289821	2	1	110	1	0	0	0	0	0	0	0	1	4603	1165	41	1		1	DMWD	19	46289821	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	263806	46289821	12839162	332	16578										
DMWD	1762	genome.wustl.edu	37	chr19	46290067	46290067	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccactggcgtgtgatgccagGaacaggctctccgactcagg	13	13	2	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:46290067G>C	ENST00000270223.6	-	3	732	c.687C>G	c.(685-687)ttC>ttG	p.F229L	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.F229L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	229										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGATGCCAGGAACAGGCTCT	0.627																																																	0													45	38	40					19																	46290067		2203	4300	6503	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.687C>G	19.37:g.46290067G>C	ENSP00000270223:p.Phe229Leu			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F229L	ENST00000270223.6	37	c.687	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	G	12.60	1.988038	0.35036	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.19532	2.14;2.14	4.1	2.98	0.34508	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.91300	3.195	0.50467	D	0.999876	B;B	0.23128	0.08;0.048	B;B	0.27887	0.084;0.039	T	0.12091	-1.0561	10	0.44086	T	0.13	-26.6381	5.9328	0.19148	0.2612:0.0:0.7388:0.0	.	229;229	G5E9A7;Q09019	.;DMWD_HUMAN	L	229	ENSP00000366964:F229L;ENSP00000270223:F229L	ENSP00000270223:F229L	F	-	3	2	DMWD	50981907	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.525000	0.60559	0.969000	0.38237	0.514000	0.50259	TTC	DMWD	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.627	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	G	NM_004943		46290067	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46290067	G	C	46290067	3	2	110	1	0	0	0	0	1	0	0	0	4603	1165	41	1	1349	1	DMWD	19	46290067	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	246	46290067	12838916	333	16579										
STRN4	29888	genome.wustl.edu	37	chr19	47225314	47225314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cgtccaggtgtgcaaccatgGagtgcaccggcttacctgag	13	12	0	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:47225314G>C	ENST00000263280.6	-	16	2070	c.2021C>G	c.(2020-2022)tCc>tGc	p.S674C	STRN4_ENST00000391910.3_Missense_Mutation_p.S681C|STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	674						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCAACCATGGAGTGCACCGG	0.617																																																	0													101	93	96					19																	47225314		2203	4300	6503	SO:0001583	missense	29888			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2021C>G	19.37:g.47225314G>C	ENSP00000263280:p.Ser674Cys		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S681C	ENST00000263280.6	37	c.2042	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816437	0.90790	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.61392	0.11;0.11;0.11	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.75048	-0.3455	10	0.87932	D	0	-29.8844	17.2132	0.86936	0.0:0.0:1.0:0.0	.	681;674	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	681;674;555	ENSP00000375777:S681C;ENSP00000263280:S674C;ENSP00000440901:S555C	ENSP00000263280:S674C	S	-	2	0	STRN4	51917154	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.310000	0.96267	2.606000	0.88127	0.561000	0.74099	TCC	STRN4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.617	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2	G			47225314	-1	no_errors	ENST00000391910	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47225314	G	C	47225314	3	2	110	1	0	0	0	0	1	0	0	0	15361	1174	41	1	248	1	STRN4	19	47225314	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	935247	47225314	11903669	334	16580										
RASIP1	54922	genome.wustl.edu	37	chr19	49230681	49230681	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acggtctccaatttccttaaTcttttcctgtggaacagtaa	6	10	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:49230681T>A	ENST00000222145.4	-	6	2044	c.1840A>T	c.(1840-1842)Att>Ttt	p.I614F	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	614	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ATTTCCTTAATCTTTTCCTGT	0.448																																																	0													91	89	90					19																	49230681		2203	4300	6503	SO:0001583	missense	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1840A>T	19.37:g.49230681T>A	ENSP00000222145:p.Ile614Phe		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.I614F	ENST00000222145.4	37	c.1840	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663321	0.88251	.	.	ENSG00000105538	ENST00000222145	T	0.25749	1.78	5.46	5.46	0.80206	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.50333	1.59	0.53688	D	0.999979	D	0.65815	0.995	P	0.56278	0.795	T	0.07290	-1.0780	10	0.42905	T	0.14	-0.0164	13.7835	0.63094	0.0:0.0:0.0:1.0	.	614	Q5U651	RAIN_HUMAN	F	614	ENSP00000222145:I614F	ENSP00000222145:I614F	I	-	1	0	RASIP1	53922493	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.363000	0.73082	2.213000	0.71641	0.482000	0.46254	ATT	RASIP1	-	pfscan_Dilute		0.448	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	T	NM_017805		49230681	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49230681	T	A	49230681	3	1	110	1	0	0	0	0	1	0	0	0	13108	1435	50	5	1079	5	RASIP1	19	49230681	Missense_Mutation	SNP	T	TCGA-EK-A2RJ-01A-11D-A18J-09	2005367	49230681	9898302	335	16581										
RUVBL2	10856	genome.wustl.edu	37	chr19	49510586	49510586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acggagatcatcgaaggggaGgtggtggagatccagattga	17	5	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:49510586G>A	ENST00000595090.1	+	6	887	c.423G>A	c.(421-423)gaG>gaA	p.E141E	RUVBL2_ENST00000413176.2_Silent_p.E96E|RUVBL2_ENST00000601968.1_Silent_p.E96E	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	141					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCGAAGGGGAGGTGGTGGAGA	0.582																																																	0													112	122	118					19																	49510586		2091	4224	6315	SO:0001819	synonymous_variant	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.423G>A	19.37:g.49510586G>A			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.E141	ENST00000595090.1	37	c.423	CCDS42588.1	19																																																																																			RUVBL2	-	pfam_TIP49_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase		0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1	G			49510586	1	no_errors	ENST00000595090	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49510586	G	A	49510586	2	1	110	1	0	0	0	0	0	0	0	1	13783	991	35	4		4	RUVBL2	19	49510586	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	279905	49510586	9618397	336	16582										
TRPM4	54795	genome.wustl.edu	37	chr19	49691917	49691917	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggttccaatgcagtttcctCagctcttggggcctgtttgc	12	11	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:49691917C>T	ENST00000252826.5	+	13	1889	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	TRPM4_ENST00000427978.2_Missense_Mutation_p.S588L|TRPM4_ENST00000355712.5_Missense_Mutation_p.S234L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	588					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCAGTTTCCTCAGCTCTTGGG	0.582																																																	0													94	90	91					19																	49691917		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1763C>T	19.37:g.49691917C>T	ENSP00000252826:p.Ser588Leu		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S588L	ENST00000252826.5	37	c.1763	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	c	20.2	3.941208	0.73557	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.74002	-0.8;-0.8;-0.8	4.37	3.25	0.37280	.	0.418310	0.23448	N	0.048080	T	0.78566	0.4303	L	0.45137	1.4	0.25158	N	0.990374	P;P;P;D	0.65815	0.816;0.782;0.557;0.995	B;B;B;P	0.61477	0.186;0.274;0.178;0.889	T	0.70659	-0.4811	10	0.72032	D	0.01	-5.3284	13.7102	0.62663	0.0:0.7688:0.2312:0.0	.	234;414;588;588	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	588;588;234	ENSP00000252826:S588L;ENSP00000407492:S588L;ENSP00000347944:S234L	ENSP00000252826:S588L	S	+	2	0	TRPM4	54383729	0.137000	0.22531	0.895000	0.35142	0.899000	0.52679	1.132000	0.31418	2.181000	0.69327	0.546000	0.68486	TCA	TRPM4	-	NULL		0.582	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49691917	1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	0.639	T	T	49691917	C	T	49691917	3	4	110	1	0	0	0	0	1	0	0	0	16619	838	29	1	1813	1	TRPM4	19	49691917	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	181331	49691917	9437066	337	16583										
ACPT	93650	genome.wustl.edu	37	chr19	51297831	51297831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acctggggaatcccgccaaaGatggagggtgagaatggttt	15	7	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:51297831G>C	ENST00000270593.1	+	9	979	c.979G>C	c.(979-981)Gat>Cat	p.D327H	ACPT_ENST00000270594.3_Missense_Mutation_p.D234H|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	327						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCCCGCCAAAGATGGAGGGTG	0.622																																																	0													39	39	39					19																	51297831		2203	4300	6503	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.979G>C	19.37:g.51297831G>C	ENSP00000270593:p.Asp327His		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.D234H	ENST00000270593.1	37	c.700	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	N	13.31	2.198247	0.38806	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.33438	1.41;1.41	3.9	0.423	0.16463	.	0.964932	0.08538	N	0.931014	T	0.25494	0.0620	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.33240	-0.9876	10	0.87932	D	0	-2.828	8.008	0.30336	0.1743:0.1343:0.6914:0.0	.	327	Q9BZG2	PPAT_HUMAN	H	327;234	ENSP00000270593:D327H;ENSP00000270594:D234H	ENSP00000270593:D327H	D	+	1	0	ACPT	55989643	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.077000	0.14738	-0.117000	0.11872	-1.134000	0.01955	GAT	ACPT	-	pfam_His_Pase_superF_clade-2		0.622	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51297831	1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.001	C	C	51297831	G	C	51297831	3	2	110	1	0	0	0	0	1	0	0	0	168	942	33	1	1013	1	ACPT	19	51297831	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1605914	51297831	7831152	338	16584										
ZNF836	162962	genome.wustl.edu	37	chr19	52659404	52659404	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcttatgtcgagtgagtaatGagccctgtttaaaggcttta	10	6	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:52659404G>A	ENST00000322146.8	-	5	2053	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZNF836_ENST00000597252.1_Missense_Mutation_p.S511L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGAGTAATGAGCCCTGTTT	0.398																																																	0													73	81	78					19																	52659404		2189	4296	6485	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1532C>T	19.37:g.52659404G>A	ENSP00000325038:p.Ser511Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S511L	ENST00000322146.8	37	c.1532	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251030	0.22880	.	.	ENSG00000196267	ENST00000322146	T	0.15834	2.39	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	M	0.80508	2.5	0.09310	N	1	P	0.36048	0.534	B	0.32864	0.154	T	0.13442	-1.0509	9	0.56958	D	0.05	.	11.3449	0.49554	0.0:0.0:1.0:0.0	.	511	Q6ZNA1	ZN836_HUMAN	L	511	ENSP00000325038:S511L	ENSP00000325038:S511L	S	-	2	0	ZNF836	57351216	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.153000	0.16323	1.192000	0.43071	0.484000	0.47621	TCA	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52659404	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.002	A	A	52659404	G	A	52659404	3	1	110	1	0	0	0	0	1	0	0	0	18217	1294	45	1	1280	1	ZNF836	19	52659404	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1361573	52659404	6469579	339	16585										
ZNF468	90333	genome.wustl.edu	37	chr19	53344689	53344689	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgaagcgctttgtgaatgaaGagggatgaattatgaccaaa	12	4	0	6			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:53344689G>C	ENST00000595646.1	-	4	978	c.858C>G	c.(856-858)ctC>ctG	p.L286L	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L233L|ZNF468_ENST00000396409.4_Silent_p.L233L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTGAATGAAGAGGGATGAAT	0.418																																																	0													121	115	117					19																	53344689		2203	4300	6503	SO:0001819	synonymous_variant	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.858C>G	19.37:g.53344689G>C			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L286	ENST00000595646.1	37	c.858	CCDS33094.1	19																																																																																			ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	G	NM_001008801		53344689	-1	no_errors	ENST00000595646	ensembl	human	known	70_37	silent	SNP	0.002	C	C	53344689	G	C	53344689	2	2	110	1	0	0	0	0	0	0	0	1	17958	929	33	1		1	ZNF468	19	53344689	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	685285	53344689	5784294	340	16586										
NLRP8	126205	genome.wustl.edu	37	chr19	56487502	56487502	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cctgtgtttctttgcagactGagaaagtgtgacttgacctt	10	8	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:56487502G>A	ENST00000291971.3	+	8	2780	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	NLRP8_ENST00000590542.1_Silent_p.L884L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	903					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L903L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTGCAGACTGAGAAAGTGTG	0.358																																																	1	Substitution - coding silent(1)	lung(1)											90	84	86					19																	56487502		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2709G>A	19.37:g.56487502G>A			Q7RTR4	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L903	ENST00000291971.3	37	c.2709	CCDS12937.1	19																																																																																			NLRP8	-	NULL		0.358	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	G	NM_176811		56487502	1	no_errors	ENST00000291971	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56487502	G	A	56487502	2	1	110	1	0	0	0	0	0	0	0	1	10507	1277	45	1		1	NLRP8	19	56487502	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3142813	56487502	2641481	341	16587										
ZNF582	147948	genome.wustl.edu	37	chr19	56895976	56895976	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgagttcgctgatgttcaatCaactgtgagcttcgactaaa	9	8	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:56895976C>G	ENST00000301310.4	-	5	968	c.810G>C	c.(808-810)ttG>ttC	p.L270F	ZNF582_ENST00000586929.1_Missense_Mutation_p.L270F|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GATGTTCAATCAACTGTGAGC	0.398																																					Ovarian(183;1887 2032 4349 30507 51343)												0													69	59	62					19																	56895976		2203	4300	6503	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.810G>C	19.37:g.56895976C>G	ENSP00000301310:p.Leu270Phe		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L270F	ENST00000301310.4	37	c.810	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685518	0.47991	.	.	ENSG00000018869	ENST00000301310	T	0.15603	2.41	5.18	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28940	N	0.013644	T	0.30039	0.0752	M	0.78344	2.41	0.09310	N	1	D;B	0.63046	0.992;0.4	P;B	0.52066	0.689;0.069	T	0.41752	-0.9491	10	0.52906	T	0.07	.	15.5635	0.76269	0.7922:0.2078:0.0:0.0	.	270;301	Q96NG8;B4DQZ9	ZN582_HUMAN;.	F	270	ENSP00000301310:L270F	ENSP00000301310:L270F	L	-	3	2	ZNF582	61587788	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.599000	0.00419	0.006000	0.14734	-0.181000	0.13052	TTG	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	C	NM_144690		56895976	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56895976	C	G	56895976	3	3	110	1	0	0	0	0	1	0	0	0	18044	825	29	1	747	1	ZNF582	19	56895976	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	408474	56895976	2233007	342	16588										
DSTN	11034	genome.wustl.edu	37	chr20	17585273	17585273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atgcaattaaaaagaaatttCaaggtatgttctagatgacc	7	5	2	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:17585273C>G	ENST00000246069.7	+	3	731	c.385C>G	c.(385-387)Caa>Gaa	p.Q129E	DSTN_ENST00000474024.1_Missense_Mutation_p.Q112E	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	129	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAAGAAATTTCAAGGTATGTT	0.388																																																	0													72	69	70					20																	17585273		2203	4300	6503	SO:0001583	missense	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.385C>G	20.37:g.17585273C>G	ENSP00000246069:p.Gln129Glu		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.Q129E	ENST00000246069.7	37	c.385	CCDS13127.1	20	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020101	0.35606	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.27256	1.68;1.68	5.72	5.72	0.89469	Actin-binding, cofilin/tropomyosin type (3);	0.522926	0.22053	N	0.065286	T	0.11239	0.0274	N	0.02247	-0.625	0.27768	N	0.943593	B	0.02656	0.0	B	0.08055	0.003	T	0.08472	-1.0720	10	0.02654	T	1	-8.7897	19.2318	0.93843	0.0:1.0:0.0:0.0	.	129	P60981	DEST_HUMAN	E	129;112	ENSP00000246069:Q129E;ENSP00000444808:Q112E	ENSP00000246069:Q129E	Q	+	1	0	DSTN	17533273	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.448000	0.44926	2.865000	0.98341	0.655000	0.94253	CAA	DSTN	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin		0.388	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTN	HGNC	protein_coding	OTTHUMT00000078131.6	C	NM_001011546		17585273	1	no_errors	ENST00000246069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17585273	C	G	17585273	3	3	110	1	0	0	0	0	1	0	0	0	4794	827	29	1	395	1	DSTN	20	17585273	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09		17585273	45440247	343	16589										
DSTN	11034	genome.wustl.edu	37	chr20	17587697	17587697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctaggcataaaacatgaatGtcaagcaaatggaccagaag	9	7	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:17587697G>T	ENST00000246069.7	+	4	750	c.404G>T	c.(403-405)tGt>tTt	p.C135F	DSTN_ENST00000474024.1_Missense_Mutation_p.C118F	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	135	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAACATGAATGTCAAGCAAAT	0.363																																																	0													123	112	116					20																	17587697		2203	4300	6503	SO:0001583	missense	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.404G>T	20.37:g.17587697G>T	ENSP00000246069:p.Cys135Phe		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.C135F	ENST00000246069.7	37	c.404	CCDS13127.1	20	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744858	0.30865	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.27104	1.69;1.69	6.02	5.07	0.68467	Actin-binding, cofilin/tropomyosin type (3);	0.211589	0.52532	D	0.000062	T	0.10252	0.0251	N	0.01242	-0.935	0.47441	D	0.999421	B	0.14012	0.009	B	0.06405	0.002	T	0.12116	-1.0560	10	0.34782	T	0.22	-5.0286	13.4917	0.61399	0.0753:0.0:0.9247:0.0	.	135	P60981	DEST_HUMAN	F	135;118	ENSP00000246069:C135F;ENSP00000444808:C118F	ENSP00000246069:C135F	C	+	2	0	DSTN	17535697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.337000	0.65941	1.533000	0.49186	0.655000	0.94253	TGT	DSTN	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin		0.363	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTN	HGNC	protein_coding	OTTHUMT00000078131.6	G	NM_001011546		17587697	1	no_errors	ENST00000246069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17587697	G	T	17587697	3	4	110	1	0	0	0	0	1	0	0	0	4794	1377	48	4	418	4	DSTN	20	17587697	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2424	17587697	45437823	344	16590										
NKX2-2	4821	genome.wustl.edu	37	chr20	21492756	21492756	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgacatggtttgccgtccctGaccaagacgggcacggccac	12	14	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:21492756G>C	ENST00000377142.4	-	2	983	c.627C>G	c.(625-627)gtC>gtG	p.V209V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	209					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCGTCCCTGACCAAGACGG	0.672																																																	0													33	36	35					20																	21492756		2203	4300	6503	SO:0001819	synonymous_variant	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.627C>G	20.37:g.21492756G>C				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.V209	ENST00000377142.4	37	c.627	CCDS13145.1	20																																																																																			NKX2-2	-	NULL		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	G			21492756	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	silent	SNP	1.000	C	C	21492756	G	C	21492756	2	2	110	1	0	0	0	0	0	0	0	1	10474	1277	45	1		1	NKX2-2	20	21492756	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	3905059	21492756	41532764	345	16591										
PYGB	5834	genome.wustl.edu	37	chr20	25260930	25260930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aatcacgaagaagacctgtgCatacaccaaccacactgtgc	7	13	1	2	rs540251614		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:25260930C>G	ENST00000216962.4	+	10	1231	c.1121C>G	c.(1120-1122)gCa>gGa	p.A374G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	374					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AAGACCTGTGCATACACCAAC	0.542													C|||	1	0.000199681	0	0	5008	,	,		21112	0.001		0	False		,,,				2504	0																0													135	121	126					20																	25260930		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1121C>G	20.37:g.25260930C>G	ENSP00000216962:p.Ala374Gly		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A374G	ENST00000216962.4	37	c.1121	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093433	0.76756	.	.	ENSG00000100994	ENST00000216962	D	0.94457	-3.43	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	M	0.63428	1.95	0.80722	D	1	P	0.38370	0.628	P	0.48654	0.585	D	0.94389	0.7612	10	0.38643	T	0.18	-14.5899	15.908	0.79445	0.0:1.0:0.0:0.0	.	374	P11216	PYGB_HUMAN	G	374	ENSP00000216962:A374G	ENSP00000216962:A374G	A	+	2	0	PYGB	25208930	1.000000	0.71417	0.964000	0.40570	0.778000	0.44026	7.518000	0.81795	2.144000	0.66660	0.462000	0.41574	GCA	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.542	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	C	NM_002862		25260930	1	no_errors	ENST00000216962	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25260930	C	G	25260930	3	3	110	1	0	0	0	0	1	0	0	0	12890	710	25	4	1159	4	PYGB	20	25260930	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3768174	25260930	37764590	346	16592										
KIAA0406	9675	genome.wustl.edu	37	chr20	36627619	36627619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctaagcactgccaggggggCgtcccgtgtgagtcggtgaa	16	10	1	2	rs200742197		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:36627619C>T	ENST00000373448.2	-	6	3002	c.2764G>A	c.(2764-2766)Gcc>Acc	p.A922T	TTI1_ENST00000449821.1_Missense_Mutation_p.A922T|TTI1_ENST00000373447.3_Missense_Mutation_p.A922T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	922					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCCAGGGGGGCGTCCCGTGTG	0.587																																																	0													82	77	79					20																	36627619		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2764G>A	20.37:g.36627619C>T	ENSP00000362547:p.Ala922Thr		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.A922T	ENST00000373448.2	37	c.2764	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211667	0.39102	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.56611	0.45;0.45;0.45	4.59	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.199120	0.51477	N	0.000081	T	0.31040	0.0784	N	0.08118	0	0.26164	N	0.979953	B	0.17667	0.023	B	0.06405	0.002	T	0.18745	-1.0327	10	0.38643	T	0.18	-7.4266	11.8079	0.52165	0.0:0.9148:0.0:0.0852	.	922	O43156	TTI1_HUMAN	T	922	ENSP00000362547:A922T;ENSP00000362546:A922T;ENSP00000407270:A922T	ENSP00000362546:A922T	A	-	1	0	TTI1	36061033	1.000000	0.71417	0.930000	0.37139	0.192000	0.23643	4.351000	0.59398	1.159000	0.42565	-0.253000	0.11424	GCC	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.587	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36627619	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36627619	C	T	36627619	3	4	110	1	0	0	0	0	1	0	0	0	8193	768	27	2	521	2	KIAA0406	20	36627619	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	11366689	36627619	26397901	347	16593										
CHD6	84181	genome.wustl.edu	37	chr20	40043882	40043882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gatgaggtccatccctccttCaacatgtttccgcctccctc	6	17	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:40043882C>T	ENST00000373233.3	-	34	7060	c.6883G>A	c.(6883-6885)Gaa>Aaa	p.E2295K	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2295					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCCCTCCTTCAACATGTTTC	0.488																																																	0													143	128	133					20																	40043882		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6883G>A	20.37:g.40043882C>T	ENSP00000362330:p.Glu2295Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2295K	ENST00000373233.3	37	c.6883	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611463	0.87258	.	.	ENSG00000124177	ENST00000373233	D	0.92595	-3.07	6.16	6.16	0.99307	.	0.099264	0.44285	D	0.000463	D	0.91157	0.7215	M	0.64404	1.975	0.80722	D	1	P	0.40050	0.7	B	0.34991	0.193	D	0.91255	0.5032	10	0.87932	D	0	-17.343	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2295	Q8TD26	CHD6_HUMAN	K	2295	ENSP00000362330:E2295K	ENSP00000362330:E2295K	E	-	1	0	CHD6	39477296	1.000000	0.71417	0.967000	0.41034	0.963000	0.63663	7.260000	0.78391	2.937000	0.99478	0.650000	0.86243	GAA	CHD6	-	NULL		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40043882	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40043882	C	T	40043882	3	4	110	1	0	0	0	0	1	0	0	0	3334	835	29	1	1280	1	CHD6	20	40043882	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	3416263	40043882	22981638	348	16594										
PCIF1	63935	genome.wustl.edu	37	chr20	44571761	44571761	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gagcctccacgggagtctttCaaccgctggatgctggagcg	14	12	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:44571761C>G	ENST00000372409.3	+	8	1063	c.699C>G	c.(697-699)ttC>ttG	p.F233L		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	233					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGGAGTCTTTCAACCGCTGGA	0.542																																																	0													59	49	53					20																	44571761		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.699C>G	20.37:g.44571761C>G	ENSP00000361486:p.Phe233Leu		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.F233L	ENST00000372409.3	37	c.699	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695548	0.68386	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.80422	2.495	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.72343	-0.4322	9	0.54805	T	0.06	-27.596	4.6478	0.12580	0.0:0.7415:0.0:0.2585	.	233	Q9H4Z3	PCIF1_HUMAN	L	233	.	ENSP00000361486:F233L	F	+	3	2	PCIF1	44005168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.387000	0.44389	2.606000	0.88127	0.655000	0.94253	TTC	PCIF1	-	NULL		0.542	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	C	NM_022104		44571761	1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44571761	C	G	44571761	3	3	110	1	0	0	0	0	1	0	0	0	11604	825	29	1	721	1	PCIF1	20	44571761	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4527879	44571761	18453759	349	16595										
ZMYND8	23613	genome.wustl.edu	37	chr20	45923508	45923508	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	actctgggtctcgatgcattCtgctactgtaattttctaca	7	10	4	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:45923508C>G	ENST00000311275.7	-	5	662	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZMYND8_ENST00000360911.3_Missense_Mutation_p.E132Q|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E137Q|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E137Q|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E157Q|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E157Q|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E137Q|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E132Q|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E132Q|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E157Q|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E132Q|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E164Q|ZMYND8_ENST00000446994.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	137					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.E157K(1)|p.E157Q(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGATGCATTCTGCTACTGTA	0.383																																																	2	Substitution - Missense(2)	urinary_tract(2)											245	221	229					20																	45923508		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.409G>C	20.37:g.45923508C>G	ENSP00000312237:p.Glu137Gln		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.E164Q	ENST00000311275.7	37	c.490		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.299412|5.299412	0.95574|0.95574	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95918|.	-2.01;-1.86;-1.99;-1.88;-1.86;-1.88;-1.99;-1.87;-1.86;-1.89;-2.01;-1.93;-3.85|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Bromodomain (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70675|0.70675	0.3251|0.3251	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.911;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.998;0.999;0.803;0.997;0.999;0.999|.	T|T	0.63620|0.63620	-0.6596|-0.6596	10|5	0.87932|.	D|.	0|.	-9.3586|-9.3586	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;164;132;132;157;137;132;157;157;137;132;132;157;132;137|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.|.	Q|T	132;137;132;137;157;157;137;164;137;157;132;132;112|63	ENSP00000354166:E132Q;ENSP00000312237:E137Q;ENSP00000392964:E132Q;ENSP00000262975:E137Q;ENSP00000420095:E157Q;ENSP00000335537:E157Q;ENSP00000379577:E137Q;ENSP00000439800:E164Q;ENSP00000348246:E137Q;ENSP00000418210:E157Q;ENSP00000361093:E132Q;ENSP00000443086:E132Q;ENSP00000413727:E112Q|.	ENSP00000262975:E137Q|.	E|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45356915|45356915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.818000|7.818000	0.86416|0.86416	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|AGA	ZMYND8	-	superfamily_Bromodomain,superfamily_Znf_FYVE_PHD		0.383	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45923508	-1	no_errors	ENST00000536340	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45923508	C	G	45923508	3	3	110	1	0	0	0	0	1	0	0	0	17741	922	32	1	3173	1	ZMYND8	20	45923508	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	1351747	45923508	17102012	350	16596										
ZNF217	7764	genome.wustl.edu	37	chr20	52193406	52193406	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaggttatttgcctgagtttCaactgctgatctctttttta	8	7	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:52193406C>T	ENST00000371471.2	-	4	2322	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.E633K			O75362	ZN217_HUMAN	zinc finger protein 217	633					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCCTGAGTTTCAACTGCTGAT	0.443																																																	0													165	163	164					20																	52193406		2203	4300	6503	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1897G>A	20.37:g.52193406C>T	ENSP00000360526:p.Glu633Lys		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E633K	ENST00000371471.2	37	c.1897	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814136	0.70912	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10573	2.86;2.86	5.25	5.25	0.73442	.	0.755938	0.12485	N	0.464765	T	0.13543	0.0328	L	0.36672	1.1	0.35177	D	0.772117	P	0.52316	0.952	P	0.47075	0.536	T	0.14980	-1.0453	10	0.24483	T	0.36	-19.507	13.7569	0.62942	0.1538:0.8462:0.0:0.0	.	633	O75362	ZN217_HUMAN	K	633	ENSP00000360526:E633K;ENSP00000304308:E633K	ENSP00000304308:E633K	E	-	1	0	ZNF217	51626813	0.843000	0.29541	0.215000	0.23724	0.029000	0.11900	1.788000	0.38714	2.610000	0.88304	0.555000	0.69702	GAA	ZNF217	-	NULL		0.443	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	C	NM_006526		52193406	-1	no_errors	ENST00000302342	ensembl	human	known	70_37	missense	SNP	0.703	T	T	52193406	C	T	52193406	3	4	110	1	0	0	0	0	1	0	0	0	17802	835	29	1	1257	1	ZNF217	20	52193406	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	6269898	52193406	10832114	351	16597										
PRPF6	57473	genome.wustl.edu	37	chr20	62654202	62654202	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aagagtgtgtggctgcgcgcCgcgtacttcgagaagaacca	14	10	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:62654202C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Silent_p.A580A|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGCTGCGCGCCGCGTACTTCG	0.577																																																	0													113	95	101					20																	62654202		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+25855G>A	20.37:g.62654202C>T			Q08AK9|Q9ULM4	Silent	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.A580	ENST00000450537.1	37	c.1740	CCDS13548.1	20																																																																																			PRPF6	-	smart_HAT		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	C	NM_020713		62654202	1	no_errors	ENST00000266079	ensembl	human	known	70_37	silent	SNP	0.003	T	T	62654202	C	T	62654202	1	4	110	0	1	0	0	0	0	0	0	0	12601	639	23	2		2	PRPF6	20	62654202	Intron	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	10460796	62654202	371318	352	16598										
RRP1B	23076	genome.wustl.edu	37	chr21	45092192	45092192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caaccccgcctctgcaggaaGagctcgccaacaccattgca	8	17	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr21:45092192G>C	ENST00000340648.4	+	3	334	c.217G>C	c.(217-219)Gag>Cag	p.E73Q		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	73					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCTGCAGGAAGAGCTCGCCAA	0.557																																																	0													174	145	155					21																	45092192		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.217G>C	21.37:g.45092192G>C	ENSP00000339145:p.Glu73Gln		Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.E73Q	ENST00000340648.4	37	c.217	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223825	0.58668	.	.	ENSG00000160208	ENST00000340648	T	0.46819	0.86	5.82	4.95	0.65309	.	0.162210	0.53938	D	0.000048	T	0.58609	0.2134	L	0.56340	1.77	0.53688	D	0.999972	D	0.63880	0.993	P	0.61070	0.883	T	0.61884	-0.6971	10	0.87932	D	0	-13.8653	10.8371	0.46694	0.0863:0.0:0.9137:0.0	.	73	Q14684	RRP1B_HUMAN	Q	73	ENSP00000339145:E73Q	ENSP00000339145:E73Q	E	+	1	0	RRP1B	43916620	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	4.764000	0.62264	1.476000	0.48215	0.563000	0.77884	GAG	RRP1B	-	pfam_Nop52		0.557	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45092192	1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45092192	G	C	45092192	3	2	110	1	0	0	0	0	1	0	0	0	13718	943	33	1	227	1	RRP1B	21	45092192	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		45092192	3037703	353	16599										
KRTAP10-9	386676	genome.wustl.edu	37	chr21	46047689	46047689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aacccatctgctgtgtgcctGtctgctctggggcttcctct	10	14	4	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr21:46047689G>A	ENST00000397911.3	+	1	650	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	201	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGTGTGCCTGTCTGCTCTGG	0.622																																																	0													243	264	257					21																	46047689		2203	4300	6503	SO:0001583	missense	386676			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.601G>A	21.37:g.46047689G>A	ENSP00000381009:p.Val201Ile		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	NULL	p.V201I	ENST00000397911.3	37	c.601	CCDS42961.1	21	.	.	.	.	.	.	.	.	.	.	a	0.038	-1.297093	0.01364	.	.	ENSG00000221837	ENST00000397911	T	0.01455	4.87	2.43	-4.86	0.03132	.	.	.	.	.	T	0.01695	0.0054	L	0.55990	1.75	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44574	-0.9319	8	.	.	.	.	1.3952	0.02259	0.3773:0.2419:0.2588:0.122	.	201	P60411	KR109_HUMAN	I	201	ENSP00000381009:V201I	.	V	+	1	0	KRTAP10-9	44872117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.067000	0.00620	-2.483000	0.00521	-1.254000	0.01491	GTC	KRTAP10-9	-	NULL		0.622	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-9	HGNC	protein_coding	OTTHUMT00000128040.1	G			46047689	1	no_errors	ENST00000397911	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46047689	G	A	46047689	3	1	110	1	0	0	0	0	1	0	0	0	8536	1377	48	4	603	4	KRTAP10-9	21	46047689	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	955497	46047689	2082206	354	16600										
AIFM3	150209	genome.wustl.edu	37	chr22	21329099	21329099	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccctacgaccgtcccaagctCagcaaggtacagggggtggg	14	13	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:21329099C>T	ENST00000399167.2	+	8	954	c.714C>T	c.(712-714)ctC>ctT	p.L238L	AIFM3_ENST00000399163.2_Silent_p.L238L|AIFM3_ENST00000335375.5_Silent_p.L226L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.L238L|AIFM3_ENST00000405089.1_Silent_p.L244L|AIFM3_ENST00000440238.2_Silent_p.L238L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	238					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCCCAAGCTCAGCAAGGTAC	0.632																																																	0													43	41	42					22																	21329099		2203	4300	6503	SO:0001819	synonymous_variant	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.714C>T	22.37:g.21329099C>T			B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.L238	ENST00000399167.2	37	c.714	CCDS13786.1	22																																																																																			AIFM3	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	C	NM_144704		21329099	1	no_errors	ENST00000399167	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21329099	C	T	21329099	2	4	110	1	0	0	0	0	0	0	0	1	428	813	29	1		1	AIFM3	22	21329099	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09		21329099	29975467	355	16601										
SMARCB1	6598	genome.wustl.edu	37	chr22	24129408	24129408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggcagaagcccgtgaagttcCagctggaggacgacggcgag	17	10	0	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:24129408C>T	ENST00000263121.7	+	1	248	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.Q18*|SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.Q18*|SMARCB1_ENST00000344921.6_Nonsense_Mutation_p.Q18*	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	18					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTGAAGTTCCAGCTGGAGGA	0.716			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	2	Unknown(2)	soft_tissue(2)											47	53	51					22																	24129408		2202	4300	6502	SO:0001587	stop_gained	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.52C>T	22.37:g.24129408C>T	ENSP00000263121:p.Gln18*		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Nonsense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.Q18*	ENST00000263121.7	37	c.52	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	C	39	7.543051	0.98348	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	.	.	.	3.41	3.41	0.39046	.	0.058524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-24.5406	15.1064	0.72324	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000263121:Q18X	Q	+	1	0	SMARCB1	22459408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.775000	0.75018	2.214000	0.71695	0.478000	0.44815	CAG	SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx		0.716	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	C	NM_003073		24129408	1	no_errors	ENST00000263121	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	24129408	C	T	24129408	4	4	110	1	0	0	0	0	0	1	0	0	14804	595	21	4	54	4	SMARCB1	22	24129408	Nonsense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2800309	24129408	27175158	356	16602										
MCM5	4174	genome.wustl.edu	37	chr22	35804446	35804446	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ccattggacccgtacttcatCatgcccgacaaatgcaaatg	7	13	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:35804446C>T	ENST00000216122.4	+	6	796	c.642C>T	c.(640-642)atC>atT	p.I214I	MCM5_ENST00000382011.5_Silent_p.I171I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	214					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGTACTTCATCATGCCCGACA	0.557																																																	0													88	74	79					22																	35804446		2203	4300	6503	SO:0001819	synonymous_variant	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.642C>T	22.37:g.35804446C>T			O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase	p.I214	ENST00000216122.4	37	c.642	CCDS13915.1	22																																																																																			MCM5	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.557	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	C			35804446	1	no_errors	ENST00000216122	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35804446	C	T	35804446	2	4	110	1	0	0	0	0	0	0	0	1	9413	816	29	1		1	MCM5	22	35804446	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	11675038	35804446	15500120	357	16603										
XPNPEP3	63929	genome.wustl.edu	37	chr22	41318403	41318403	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	caaagagattgtttggccctCtgcttccctgggacaagctt	10	11	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:41318403C>G	ENST00000357137.4	+	8	1206	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L	XPNPEP3_ENST00000544094.1_Silent_p.L351L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	374					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GTTTGGCCCTCTGCTTCCCTG	0.478																																					Ovarian(145;306 1841 7037 21878 30110)												0													206	197	200					22																	41318403		2203	4300	6503	SO:0001819	synonymous_variant	63929				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1122C>G	22.37:g.41318403C>G			B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.L374	ENST00000357137.4	37	c.1122	CCDS14007.1	22																																																																																			XPNPEP3	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.478	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	C	NM_022098		41318403	1	no_errors	ENST00000357137	ensembl	human	known	70_37	silent	SNP	0.965	G	G	41318403	C	G	41318403	2	3	110	1	0	0	0	0	0	0	0	1	17475	900	32	1		1	XPNPEP3	22	41318403	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5513957	41318403	9986163	358	16604										
BRD1	23774	genome.wustl.edu	37	chr22	50217320	50217320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gtccatgcagatgcagcacaCggcgtcctcgtcgatcagag	12	13	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50217320C>T	ENST00000216267.8	-	1	1132	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	BRD1_ENST00000404760.1_Missense_Mutation_p.V216M|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.V216M|BRD1_ENST00000457780.2_Missense_Mutation_p.V216M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	216					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGCAGCACACGGCGTCCTCG	0.597																																																	0													61	49	53					22																	50217320		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.646G>A	22.37:g.50217320C>T	ENSP00000216267:p.Val216Met		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.V216M	ENST00000216267.8	37	c.646	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238865	0.58995	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.73	4.73	0.59995	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94653	0.7841	9	.	.	.	.	17.7103	0.88319	0.0:1.0:0.0:0.0	.	216;216;216	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	M	216	ENSP00000216267:V216M;ENSP00000384076:V216M;ENSP00000385858:V216M;ENSP00000410042:V216M	.	V	-	1	0	BRD1	48603324	1.000000	0.71417	0.963000	0.40424	0.602000	0.36980	5.517000	0.67061	2.172000	0.68678	0.467000	0.42956	GTG	BRD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.597	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	C	NM_014577		50217320	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50217320	C	T	50217320	3	4	110	1	0	0	0	0	1	0	0	0	1504	536	19	2	2578	2	BRD1	22	50217320	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	8898917	50217320	1087246	359	16605										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50659792	50659792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggggagcagagtctcccgcGaggcggagccacaggcatcc	16	13	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50659792G>A	ENST00000248846.5	-	16	3100	c.2996C>T	c.(2995-2997)tCg>tTg	p.S999L	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.S999L|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	999					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTCTCCCGCGAGGCGGAGCC	0.672																																																	0													22	23	23					22																	50659792		2203	4299	6502	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2996C>T	22.37:g.50659792G>A	ENSP00000248846:p.Ser999Leu		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.S999L	ENST00000248846.5	37	c.2996	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335072	0.24253	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11385	3.2;2.78	3.51	-7.03	0.01584	.	30.567900	0.00166	N	0.000000	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.017;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.31052	-0.9957	10	0.42905	T	0.14	.	4.4961	0.11837	0.1463:0.2704:0.4701:0.1133	.	991;999;999	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	L	999	ENSP00000248846:S999L;ENSP00000397387:S999L	ENSP00000248846:S999L	S	-	2	0	TUBGCP6	49001919	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.766000	0.04725	-1.616000	0.01572	-1.300000	0.01332	TCG	TUBGCP6	-	pfam_Spc97_Spc98		0.672	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50659792	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50659792	G	A	50659792	3	1	110	1	0	0	0	0	1	0	0	0	16801	1059	37	1	2503	1	TUBGCP6	22	50659792	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	442472	50659792	644774	360	16606										
PLXNB2	23654	genome.wustl.edu	37	chr22	50719908	50719908	+	Silent	SNP	C	C	T													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tccacgcggcccagcacccaCtcgcgagagccgaacttcac							TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50719908C>T	ENST00000449103.1	-	22	3683	c.3543G>A	c.(3541-3543)gaG>gaA	p.E1181E	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.E1181E			O15031	PLXB2_HUMAN	plexin B2	1181					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCACCCACTCGCGAGAGC	0.692																																																	0													20	29	26					22																	50719908		2177	4257	6434	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3543G>A	22.37:g.50719908C>T			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1181	ENST00000449103.1	37	c.3543	CCDS43035.1	22																																																																																			PLXNB2	-	NULL		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719908	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50719908	C	T	50719908	2	4	110	1	0	0	0	0	0	0	0	1	12148	564	20	4		4	PLXNB2	22	50719908	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	60116	50719908	584658	361	16607	90	2								
PLXNB2	23654	genome.wustl.edu	37	chr22	50719913	50719913	+	Missense_Mutation	SNP	G	G	A													0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gcggcccagcacccactcgcGagagccgaacttcacctgtg					rs372197536		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50719913G>A	ENST00000449103.1	-	22	3678	c.3538C>T	c.(3538-3540)Cgc>Tgc	p.R1180C	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1180C			O15031	PLXB2_HUMAN	plexin B2	1180					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCACTCGCGAGAGCCGAAC	0.682																																																	0								G	CYS/ARG	1,4315		0,1,2157	19	27	25		3538	4.2	0.1	22		25	0,8490		0,0,4245	no	missense	PLXNB2	NM_012401.3	180	0,1,6402	AA,AG,GG		0.0,0.0232,0.0078	benign	1180/1839	50719913	1,12805	2158	4245	6403	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3538C>T	22.37:g.50719913G>A	ENSP00000409171:p.Arg1180Cys		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1180C	ENST00000449103.1	37	c.3538	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123326	0.37436	2.32E-4	0.0	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03386	3.95;3.95	4.18	4.18	0.49190	.	0.000000	0.53938	D	0.000046	T	0.04815	0.0130	L	0.47716	1.5	0.28423	N	0.917617	B	0.25719	0.132	B	0.17433	0.018	T	0.11494	-1.0585	10	0.59425	D	0.04	.	12.6757	0.56893	0.0:0.0:0.8344:0.1656	.	1180	O15031	PLXB2_HUMAN	C	1180	ENSP00000409171:R1180C;ENSP00000352288:R1180C	ENSP00000352288:R1180C	R	-	1	0	PLXNB2	49062040	0.086000	0.21541	0.052000	0.19188	0.922000	0.55478	1.486000	0.35530	2.163000	0.67991	0.561000	0.74099	CGC	PLXNB2	-	NULL		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	G	NM_012401		50719913	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.213	A	A	50719913	G	A	50719913	3	1	110	1	0	0	0	0	1	0	0	0	12148	1058	37	1	2042	1	PLXNB2	22	50719913	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5	50719913	584653	362	16608	90	2								
FRMPD4	9758	genome.wustl.edu	37	chrX	12736237	12736237	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaagatggtatgtggccactGaaggtgggatggctgaaaaa	15	4	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:12736237G>A	ENST00000380682.1	+	16	3798	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1098					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGGCCACTGAAGGTGGGAT	0.488																																																	0													135	135	135					X																	12736237		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3292G>A	X.37:g.12736237G>A	ENSP00000370057:p.Glu1098Lys		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E1098K	ENST00000380682.1	37	c.3292	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562654	0.27915	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06849	3.25	5.49	5.49	0.81192	.	0.373533	0.30714	N	0.009031	T	0.10165	0.0249	L	0.51422	1.61	0.32548	N	0.53275	B;B	0.32717	0.102;0.381	B;B	0.26969	0.034;0.075	T	0.08006	-1.0743	10	0.24483	T	0.36	-6.4367	18.464	0.90749	0.0:0.0:1.0:0.0	.	1090;1098	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	1098;1089;1087	ENSP00000370057:E1098K	ENSP00000304583:E1087K	E	+	1	0	FRMPD4	12646158	1.000000	0.71417	0.471000	0.27229	0.113000	0.19764	7.304000	0.78882	2.301000	0.77427	0.600000	0.82982	GAA	FRMPD4	-	NULL		0.488	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	G	XM_045712		12736237	1	no_errors	ENST00000380682	ensembl	human	known	70_37	missense	SNP	0.980	A	A	12736237	G	A	12736237	3	1	110	1	0	0	0	0	1	0	0	0	6077	1291	45	1	3354	1	FRMPD4	23	12736237	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09		12736237	142534323	363	16609										
BEND2	139105	genome.wustl.edu	37	chrX	18189170	18189170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agggcacacaggccatgcttCagattgccatagacgttact	10	11	1	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:18189170C>T	ENST00000380033.4	-	13	2268	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L	BEND2_ENST00000380030.3_Silent_p.L621L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	712	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGCCATGCTTCAGATTGCCAT	0.418																																																	0													214	189	198					X																	18189170		2203	4300	6503	SO:0001819	synonymous_variant	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2136G>A	X.37:g.18189170C>T			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.L712	ENST00000380033.4	37	c.2136	CCDS14184.1	X																																																																																			BEND2	-	pfam_BEN_domain		0.418	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	C	NM_153346		18189170	-1	no_errors	ENST00000380033	ensembl	human	known	70_37	silent	SNP	0.000	T	T	18189170	C	T	18189170	2	4	110	1	0	0	0	0	0	0	0	1	1399	813	29	1		1	BEND2	23	18189170	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	5452933	18189170	137081390	364	16610										
MAGEB3	4114	genome.wustl.edu	37	chrX	30254899	30254899	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	catgctgaaaccagcaagatGaaggtcctggagttttgggc	13	8	0	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:30254899G>A	ENST00000361644.2	+	5	1595	c.858G>A	c.(856-858)atG>atA	p.M286I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	286	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGCAAGATGAAGGTCCTGG	0.488																																																	0													98	86	90					X																	30254899		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.858G>A	X.37:g.30254899G>A	ENSP00000355198:p.Met286Ile		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.M286I	ENST00000361644.2	37	c.858	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551259	0.45383	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05319	3.46;3.46	4.3	4.3	0.51218	.	0.325746	0.29145	U	0.013001	T	0.24431	0.0592	M	0.91140	3.18	0.24401	N	0.99471	P	0.52170	0.951	P	0.55999	0.789	T	0.11991	-1.0565	10	0.87932	D	0	.	11.0211	0.47718	0.0:0.0:1.0:0.0	.	286	O15480	MAGB3_HUMAN	I	286	ENSP00000368271:M286I;ENSP00000355198:M286I	ENSP00000355198:M286I	M	+	3	0	MAGEB3	30164820	0.984000	0.35163	0.913000	0.36048	0.018000	0.09664	1.897000	0.39799	2.367000	0.80283	0.600000	0.82982	ATG	MAGEB3	-	pfam_MAGE,pfscan_MAGE		0.488	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	G	NM_002365		30254899	1	no_errors	ENST00000361644	ensembl	human	known	70_37	missense	SNP	0.912	A	A	30254899	G	A	30254899	3	1	110	1	0	0	0	0	1	0	0	0	9200	1290	45	1	860	1	MAGEB3	23	30254899	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	12065729	30254899	125015661	365	16611										
DMD	1756	genome.wustl.edu	37	chrX	32382743	32382743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gggtttctttttctctgattCatccaaaagtgtgtcagcct	8	9	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:32382743C>T	ENST00000357033.4	-	36	5316	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	DMD_ENST00000378677.2_Missense_Mutation_p.E1700K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1704	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTCTGATTCATCCAAAAGT	0.368																																																	0													253	211	226					X																	32382743		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5110G>A	X.37:g.32382743C>T	ENSP00000354923:p.Glu1704Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.E1704K	ENST00000357033.4	37	c.5110	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.284128	0.95489	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51817	0.69;0.69	5.38	5.38	0.77491	.	0.000000	0.35838	U	0.002956	T	0.65647	0.2711	L	0.61387	1.9	0.80722	D	1	D;D;D;D;D	0.65815	0.994;0.957;0.995;0.995;0.995	D;D;D;D;D	0.67103	0.915;0.913;0.949;0.949;0.949	T	0.62849	-0.6767	10	0.34782	T	0.22	.	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1696;1704;1700;363;360	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1696;363;360;1700;1704;1704;1581	ENSP00000367948:E1700K;ENSP00000354923:E1704K	ENSP00000354923:E1704K	E	-	1	0	DMD	32292664	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.722000	0.61958	2.371000	0.80710	0.538000	0.68166	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32382743	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32382743	C	T	32382743	3	4	110	1	0	0	0	0	1	0	0	0	4590	835	29	1	6271	1	DMD	23	32382743	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2127844	32382743	122887817	366	16612										
UXT	8409	genome.wustl.edu	37	chrX	47516583	47516583	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cctcatggaatggacttactCtgtgaggagagagctcttac	11	9	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:47516583C>A	ENST00000333119.3	-	5	410	c.355G>T	c.(355-357)Gag>Tag	p.E119*	RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'UTR|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_Splice_Site_p.E131*	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	119					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TGGACTTACTCTGTGAGGAGA	0.453																																																	0													55	44	48					X																	47516583		2203	4299	6502	SO:0001630	splice_region_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.356+1G>T	X.37:g.47516583C>A			B2R561|Q5JZG3|Q9Y6E5	Nonsense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.E131*	ENST00000333119.3	37	c.391	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.147427	0.94603	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	.	.	.	5.57	2.63	0.31362	.	0.500235	0.18593	N	0.136690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-8.9474	2.5742	0.04802	0.1953:0.5154:0.1852:0.104	.	.	.	.	X	119;131	.	ENSP00000327797:E119X	E	-	1	0	UXT	47401527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.093000	0.30939	1.205000	0.43262	0.594000	0.82650	GAG	UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin		0.453	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	C	NM_153477	Nonsense_Mutation	47516583	-1	no_errors	ENST00000335890	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	47516583	C	A	47516583	5	1	110	1	0	0	0	0	0	0	1	0	17141	927	32	3	130	3	UXT	23	47516583	Splice_Site	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	15133840	47516583	107753977	367	16613										
UXT	8409	genome.wustl.edu	37	chrX	47516607	47516607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaggagagagctcttacgatCaatgaacttgagagcttctg	12	7	3	3			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:47516607C>G	ENST00000333119.3	-	5	386	c.331G>C	c.(331-333)Gat>Cat	p.D111H	RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'UTR|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_Missense_Mutation_p.D123H	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	111					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						CTCTTACGATCAATGAACTTG	0.468																																																	0													64	50	54					X																	47516607		2203	4300	6503	SO:0001583	missense	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.331G>C	X.37:g.47516607C>G	ENSP00000327797:p.Asp111His		B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.D123H	ENST00000333119.3	37	c.367	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640219	0.47153	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.51325	0.71;0.71	5.87	5.87	0.94306	Prefoldin (1);Prefoldin subunit (1);	0.057266	0.64402	D	0.000002	T	0.47116	0.1428	L	0.57536	1.79	0.42359	D	0.992404	B	0.16166	0.016	B	0.17722	0.019	T	0.43877	-0.9364	10	0.62326	D	0.03	-13.0639	14.3675	0.66815	0.0:1.0:0.0:0.0	.	111	Q9UBK9	UXT_HUMAN	H	111;123	ENSP00000327797:D111H;ENSP00000337393:D123H	ENSP00000327797:D111H	D	-	1	0	UXT	47401551	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.847000	0.62867	2.469000	0.83416	0.594000	0.82650	GAT	UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT		0.468	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	C	NM_153477		47516607	-1	no_errors	ENST00000335890	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47516607	C	G	47516607	3	3	110	1	0	0	0	0	1	0	0	0	17141	826	29	1	154	1	UXT	23	47516607	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	24	47516607	107753953	368	16614										
ZNF630	57232	genome.wustl.edu	37	chrX	47918822	47918822	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tccagtatggactctctgatGaacagtgaaaggtgacttcc	10	9	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:47918822G>A	ENST00000409324.3	-	5	1235	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y	ZNF630_ENST00000442455.3_Missense_Mutation_p.H323Y|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.H213Y	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ACTCTCTGATGAACAGTGAAA	0.423																																																	0													61	56	57					X																	47918822		2193	4288	6481	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1009C>T	X.37:g.47918822G>A	ENSP00000386393:p.His337Tyr		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H337Y	ENST00000409324.3	37	c.1009	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	17.98	3.521131	0.64747	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	D;D;D	0.86769	-2.17;-2.17;-2.17	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94863	0.8340	H	0.96547	3.84	0.29669	N	0.842588	D	0.89917	1.0	D	0.91635	0.999	D	0.89137	0.3514	9	0.87932	D	0	.	9.8164	0.40856	0.0:0.0:1.0:0.0	.	337	Q2M218	ZN630_HUMAN	Y	323;213;337	ENSP00000393163:H323Y;ENSP00000354683:H213Y;ENSP00000386393:H337Y	ENSP00000354683:H213Y	H	-	1	0	ZNF630	47803766	1.000000	0.71417	0.827000	0.32855	0.928000	0.56348	6.402000	0.73260	1.179000	0.42884	0.544000	0.68410	CAT	ZNF630	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	G	NM_001037735		47918822	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.997	A	A	47918822	G	A	47918822	3	1	110	1	0	0	0	0	1	0	0	0	18084	1290	45	1	968	1	ZNF630	23	47918822	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	402215	47918822	107351738	369	16615										
CACNA1F	778	genome.wustl.edu	37	chrX	49071932	49071932	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgtagacaatgaagaacactGagatctccacacggtaatta	8	8	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:49071932G>A	ENST00000376265.2	-	28	3402	c.3341C>T	c.(3340-3342)tCa>tTa	p.S1114L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.S1103L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S1049L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1114	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGAACACTGAGATCTCCAC	0.512																																																	0													114	87	96					X																	49071932		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3341C>T	X.37:g.49071932G>A	ENSP00000365441:p.Ser1114Leu		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.S1114L	ENST00000376265.2	37	c.3341	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	24.0	4.480136	0.84747	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98234	-4.81;-4.81;-4.81	4.61	4.61	0.57282	Ion transport (1);	0.147999	0.46442	D	0.000287	D	0.98419	0.9474	L	0.54965	1.715	0.49798	D	0.999827	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.95	D	0.99819	1.1046	10	0.87932	D	0	.	15.2896	0.73857	0.0:0.0:1.0:0.0	.	1103;1114	F5CIQ9;O60840	.;CAC1F_HUMAN	L	1049;1103;1114	ENSP00000365427:S1049L;ENSP00000321618:S1103L;ENSP00000365441:S1114L	ENSP00000321618:S1103L	S	-	2	0	CACNA1F	48958876	1.000000	0.71417	0.890000	0.34922	0.924000	0.55760	9.576000	0.98192	2.114000	0.64651	0.597000	0.82753	TCA	CACNA1F	-	pfam_Ion_trans_dom		0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49071932	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49071932	G	A	49071932	3	1	110	1	0	0	0	0	1	0	0	0	2548	1294	45	1	2676	1	CACNA1F	23	49071932	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	1153110	49071932	106198628	370	16616										
PPP1R3F	89801	genome.wustl.edu	37	chrX	49143300	49143300	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttgggggccgaagtctgtctCtctagtgtagccaggcctca	13	11	4	0	rs138904738		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:49143300C>G	ENST00000055335.6	+	4	2164	c.2148C>G	c.(2146-2148)ctC>ctG	p.L716L	PPP1R3F_ENST00000376188.1_Silent_p.L370L|PPP1R3F_ENST00000495799.1_Silent_p.L370L|PPP1R3F_ENST00000438316.1_Silent_p.L387L|PPP1R3F_ENST00000466508.1_Silent_p.L370L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	716					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AAGTCTGTCTCTCTAGTGTAG	0.592																																																	0								C	,	0,3834		0,0,1632,570	57	40	46		1110,2148	-9.2	0	X	dbSNP_134	46	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	PPP1R3F	NM_001184745.1,NM_033215.4	,	0,1,4059,2442	GG,GC,CC,C		0.0149,0.0,0.0095	,	370/454,716/800	49143300	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2148C>G	X.37:g.49143300C>G			A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.L716	ENST00000055335.6	37	c.2148	CCDS35254.1	X																																																																																			PPP1R3F	-	NULL		0.592	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	C	NM_033215		49143300	1	no_errors	ENST00000055335	ensembl	human	known	70_37	silent	SNP	0.000	G	G	49143300	C	G	49143300	2	3	110	1	0	0	0	0	0	0	0	1	12402	900	32	1		1	PPP1R3F	23	49143300	Silent	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	71368	49143300	106127260	371	16617										
PHF8	23133	genome.wustl.edu	37	chrX	54022194	54022194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tcgcactgtctccgggatctCatcctcatggtctggcagag	11	13	4	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:54022194C>T	ENST00000357988.5	-	12	1721	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	PHF8_ENST00000338946.6_Missense_Mutation_p.E419K|PHF8_ENST00000338154.6_Missense_Mutation_p.E419K|PHF8_ENST00000322659.8_Missense_Mutation_p.E419K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	455					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCCGGGATCTCATCCTCATGG	0.493																																																	0													88	64	72					X																	54022194		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1363G>A	X.37:g.54022194C>T	ENSP00000350676:p.Glu455Lys		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E455K	ENST00000357988.5	37	c.1363	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.211592|4.211592	0.79240|0.79240	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282;ENST00000448003	T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;P|.	0.40332|.	0.555;0.451;0.586;0.713|.	B;B;B;B|.	0.33620|.	0.167;0.049;0.106;0.131|.	T|T	0.55805|0.55805	-0.8083|-0.8083	10|5	0.37606|.	T|.	0.19|.	-24.8462|-24.8462	17.0602|17.0602	0.86546|0.86546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	419;419;455;455|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	K|I	455;419;419;449;419|322;99	ENSP00000350676:E455K;ENSP00000338868:E419K;ENSP00000340051:E419K;ENSP00000319473:E419K|.	ENSP00000319473:E419K|.	E|M	-|-	1|3	0|0	PHF8|PHF8	54038919|54038919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.874000|6.874000	0.75546|0.75546	2.293000|2.293000	0.77203|0.77203	0.468000|0.468000	0.43344|0.43344	GAG|ATG	PHF8	-	NULL		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	C	NM_015107		54022194	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54022194	C	T	54022194	3	4	110	1	0	0	0	0	1	0	0	0	11864	835	29	1	2033	1	PHF8	23	54022194	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	4878894	54022194	101248366	372	16618										
ZMYM3	9203	genome.wustl.edu	37	chrX	70472920	70472920	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tctttttccaggccagcaggGgtatcaagcaggtccagggc	13	11	2	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:70472920G>T	ENST00000353904.2	-	2	373	c.186C>A	c.(184-186)acC>acA	p.T62T	ZMYM3_ENST00000373981.1_Silent_p.T62T|ZMYM3_ENST00000373978.1_Silent_p.T62T|ZMYM3_ENST00000373982.1_Silent_p.T62T|ZMYM3_ENST00000373988.1_Silent_p.T62T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.T62T|ZMYM3_ENST00000373984.3_Silent_p.T62T|ZMYM3_ENST00000373998.1_Silent_p.T62T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	62					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGCCAGCAGGGGTATCAAGCA	0.627											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													13	15	14					X																	70472920		2194	4280	6474	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.186C>A	X.37:g.70472920G>T		1122	D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.T62	ENST00000353904.2	37	c.186	CCDS14409.1	X																																																																																			ZMYM3	-	NULL		0.627	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70472920	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	silent	SNP	0.987	T	T	70472920	G	T	70472920	2	4	110	1	0	0	0	0	0	0	0	1	17731	1219	43	4		4	ZMYM3	23	70472920	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	16450726	70472920	84797640	373	16619										
OGT	8473	genome.wustl.edu	37	chrX	70787861	70787861	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aggagagactcttgcttctcGagttgcagcatcccagctca	10	12	3	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:70787861G>C	ENST00000373719.3	+	21	3078	c.2861G>C	c.(2860-2862)cGa>cCa	p.R954P	OGT_ENST00000373701.3_Missense_Mutation_p.R944P	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	954					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGCTTCTCGAGTTGCAGCA	0.403																																																	0													229	188	202					X																	70787861		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2861G>C	X.37:g.70787861G>C	ENSP00000362824:p.Arg954Pro		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R954P	ENST00000373719.3	37	c.2861	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587188	0.86851	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	D;D	0.82711	-1.64;-1.63	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79784	0.958;0.923;0.993	D	0.96290	0.9213	10	0.87932	D	0	-5.0859	17.3502	0.87321	0.0:0.0:1.0:0.0	.	828;944;954	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	P	954;944	ENSP00000362824:R954P;ENSP00000362805:R944P	ENSP00000362805:R944P	R	+	2	0	OGT	70704586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.621000	0.98376	2.279000	0.76181	0.544000	0.68410	CGA	OGT	-	NULL		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	G	NM_003605, NM_181672		70787861	1	no_errors	ENST00000373719	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70787861	G	C	70787861	3	2	110	1	0	0	0	0	1	0	0	0	10871	1058	37	1	2943	1	OGT	23	70787861	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	314941	70787861	84482699	374	16620										
CITED1	4435	genome.wustl.edu	37	chrX	71521706	71521706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cttcctcatccactgggtccGaatcgatgatagcagggctc	10	13	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:71521706G>A	ENST00000246139.5	-	3	1024	c.449C>T	c.(448-450)tCg>tTg	p.S150L	CITED1_ENST00000373619.3_Missense_Mutation_p.S150L|CITED1_ENST00000445983.1_Missense_Mutation_p.S150L|CITED1_ENST00000431381.1_Missense_Mutation_p.S176L	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	150	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S150L(1)		skin(1)	1	Renal(35;0.156)					CACTGGGTCCGAATCGATGAT	0.602																																																	1	Substitution - Missense(1)	skin(1)											79	66	70					X																	71521706		2203	4300	6503	SO:0001583	missense	4435			U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.449C>T	X.37:g.71521706G>A	ENSP00000246139:p.Ser150Leu		B5BU50|B5BUI2	Missense_Mutation	SNP	pfam_CITED	p.S176L	ENST00000246139.5	37	c.527	CCDS14419.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.280873|2.280873	0.40394|0.40394	.|.	.|.	ENSG00000125931|ENSG00000125931	ENST00000429794|ENST00000453707;ENST00000431381;ENST00000445983;ENST00000373619;ENST00000246139	.|T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0	5.64|5.64	3.86|3.86	0.44501|0.44501	.|.	.|0.079753	.|0.51477	.|D	.|0.000087	T|T	0.44393|0.44393	0.1291|0.1291	L|L	0.48362|0.48362	1.52|1.52	0.34714|0.34714	D|D	0.728089|0.728089	.|P;P	.|0.41450	.|0.75;0.467	.|B;B	.|0.28465	.|0.09;0.089	T|T	0.55964|0.55964	-0.8057|-0.8057	5|10	.|0.56958	.|D	.|0.05	-8.8008|-8.8008	4.8597|4.8597	0.13577|0.13577	0.1791:0.0:0.6491:0.1718|0.1791:0.0:0.6491:0.1718	.|.	.|176;150	.|Q99966-2;Q99966	.|.;CITE1_HUMAN	W|L	63|176;176;150;150;150	.|ENSP00000401764:S176L;ENSP00000388548:S176L;ENSP00000403274:S150L;ENSP00000362721:S150L;ENSP00000246139:S150L	.|ENSP00000246139:S150L	R|S	-|-	1|2	2|0	CITED1|CITED1	71438431|71438431	1.000000|1.000000	0.71417|0.71417	0.409000|0.409000	0.26459|0.26459	0.205000|0.205000	0.24178|0.24178	3.246000|3.246000	0.51414|0.51414	0.544000|0.544000	0.28883|0.28883	-0.237000|-0.237000	0.12165|0.12165	CGG|TCG	CITED1	-	pfam_CITED		0.602	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CITED1	HGNC	protein_coding	OTTHUMT00000057181.1	G	NM_004143		71521706	-1	no_errors	ENST00000431381	ensembl	human	known	70_37	missense	SNP	0.713	A	A	71521706	G	A	71521706	3	1	110	1	0	0	0	0	1	0	0	0	3444	1059	37	1	136	1	CITED1	23	71521706	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	733845	71521706	83748854	375	16621										
PGK1	5230	genome.wustl.edu	37	chrX	77378713	77378713	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttggcacttctctgtttgatGaagagggagccaagattgtc	12	7	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:77378713G>T	ENST00000373316.4	+	8	945	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	PGK1_ENST00000537456.1_Nonsense_Mutation_p.E232*|PGK1_ENST00000442431.1_Nonsense_Mutation_p.E124*	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	260					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TCTGTTTGATGAAGAGGGAGC	0.448																																																	0													98	74	82					X																	77378713		2203	4300	6503	SO:0001587	stop_gained	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.778G>T	X.37:g.77378713G>T	ENSP00000362413:p.Glu260*		A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Nonsense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.E260*	ENST00000373316.4	37	c.778	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.637856	0.98403	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.8321	16.6486	0.85183	0.0:0.0:1.0:0.0	.	.	.	.	X	260;124;85;232	.	ENSP00000362413:E260X	E	+	1	0	PGK1	77265369	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.208000	0.95075	2.221000	0.72209	0.594000	0.82650	GAA	PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase		0.448	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	G			77378713	1	no_errors	ENST00000373316	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	77378713	G	T	77378713	4	4	110	1	0	0	0	0	0	1	0	0	11814	1291	45	3	808	3	PGK1	23	77378713	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	5857007	77378713	77891847	376	16622										
BRWD3	254065	genome.wustl.edu	37	chrX	79946590	79946590	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	agtctccgcctgatggtattGaggtcagttggataagcaac	12	8	2	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:79946590G>A	ENST00000373275.4	-	31	3780	c.3564C>T	c.(3562-3564)ctC>ctT	p.L1188L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1188	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGATGGTATTGAGGTCAGTTG	0.358																																																	0													76	72	74					X																	79946590		2202	4300	6502	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3564C>T	X.37:g.79946590G>A			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.L1188	ENST00000373275.4	37	c.3564	CCDS14447.1	X																																																																																			BRWD3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79946590	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	1.000	A	A	79946590	G	A	79946590	2	1	110	1	0	0	0	0	0	0	0	1	1529	1277	45	1		1	BRWD3	23	79946590	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2567877	79946590	75323970	377	16623										
BRWD3	254065	genome.wustl.edu	37	chrX	79980505	79980505	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	tgttcccatcatgacctgctGaaagtatgatcctttgatca	7	10	2	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:79980505G>A	ENST00000373275.4	-	15	1664	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	483					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGACCTGCTGAAAGTATGAT	0.378																																																	0													102	88	93					X																	79980505		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1448C>T	X.37:g.79980505G>A	ENSP00000362372:p.Ser483Leu		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S483L	ENST00000373275.4	37	c.1448	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.173789	0.94807	.	.	ENSG00000165288	ENST00000373275	T	0.72615	-0.67	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat, conserved site (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90819	0.4707	9	.	.	.	-8.6599	18.1599	0.89705	0.0:0.0:1.0:0.0	.	483	Q6RI45	BRWD3_HUMAN	L	483	ENSP00000362372:S483L	.	S	-	2	0	BRWD3	79867161	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.263000	0.95617	2.481000	0.83766	0.600000	0.82982	TCA	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79980505	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79980505	G	A	79980505	3	1	110	1	0	0	0	0	1	0	0	0	1529	1294	45	1	4068	1	BRWD3	23	79980505	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	33915	79980505	75290055	378	16624										
GUCY2F	2986	genome.wustl.edu	37	chrX	108718759	108718759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cccagctgtttcccaggagcGaggctgcctcgcagtagcca	12	15	0	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:108718759G>C	ENST00000218006.2	-	2	698	c.407C>G	c.(406-408)tCg>tGg	p.S136W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	136					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCCCAGGAGCGAGGCTGCCTC	0.498											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													167	178	174					X																	108718759		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.407C>G	X.37:g.108718759G>C	ENSP00000218006:p.Ser136Trp	1414	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.S136W	ENST00000218006.2	37	c.407	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428114	0.43122	.	.	ENSG00000101890	ENST00000218006	D	0.84800	-1.9	4.94	1.96	0.26148	Extracellular ligand-binding receptor (1);	0.293525	0.34110	N	0.004253	D	0.88280	0.6394	M	0.63843	1.955	0.25561	N	0.987	D	0.76494	0.999	D	0.76071	0.987	T	0.78748	-0.2083	10	0.87932	D	0	.	5.302	0.15783	0.214:0.1613:0.6247:0.0	.	136	P51841	GUC2F_HUMAN	W	136	ENSP00000218006:S136W	ENSP00000218006:S136W	S	-	2	0	GUCY2F	108605415	0.683000	0.27633	0.083000	0.20561	0.880000	0.50808	2.799000	0.47892	0.145000	0.18977	0.594000	0.82650	TCG	GUCY2F	-	pfam_ANF_lig-bd_rcpt		0.498	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108718759	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	0.037	C	C	108718759	G	C	108718759	3	2	110	1	0	0	0	0	1	0	0	0	6918	1059	37	1	2991	1	GUCY2F	23	108718759	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	28738254	108718759	46551801	379	16625										
CD40LG	959	genome.wustl.edu	37	chrX	135730506	135730506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ttacttactgtttttcttatCacccagatgattgggtcagc	7	9	3	2			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:135730506C>G	ENST00000370629.2	+	1	155	c.99C>G	c.(97-99)atC>atG	p.I33M	CD40LG_ENST00000370628.2_Missense_Mutation_p.I33M	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	33					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TTTTTCTTATCACCCAGATGA	0.408									Immune Deficiency with Hyper-IgM																																								0													167	159	162					X																	135730506		2203	4300	6503	SO:0001583	missense	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.99C>G	X.37:g.135730506C>G	ENSP00000359663:p.Ile33Met			Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.I33M	ENST00000370629.2	37	c.99	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	c	14.53	2.563974	0.45694	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.79554	-1.28;-1.28	5.7	1.41	0.22369	.	0.209094	0.41500	D	0.000864	T	0.79040	0.4379	L	0.27053	0.805	0.24669	N	0.993422	D;D	0.76494	0.999;0.998	D;D	0.64506	0.915;0.926	T	0.69628	-0.5094	10	0.72032	D	0.01	-11.7035	8.1105	0.30911	0.0:0.5956:0.0:0.4044	.	33;33	Q3L8U2;P29965	.;CD40L_HUMAN	M	33	ENSP00000359663:I33M;ENSP00000359662:I33M	ENSP00000359662:I33M	I	+	3	3	CD40LG	135558172	0.999000	0.42202	0.993000	0.49108	0.991000	0.79684	0.378000	0.20569	0.196000	0.20367	-0.195000	0.12781	ATC	CD40LG	-	pirsf_TNF_ligand_5,prints_TNF_ligand_5		0.408	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	C	NM_000074		135730506	1	no_errors	ENST00000370629	ensembl	human	known	70_37	missense	SNP	0.921	G	G	135730506	C	G	135730506	3	3	110	1	0	0	0	0	1	0	0	0	3021	816	29	1	101	1	CD40LG	23	135730506	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	27011747	135730506	19540054	380	16626										
MCF2	4168	genome.wustl.edu	37	chrX	138698554	138698554	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aatgtcttggagagctttctGagcatcttctttagactgaa	9	7	4	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:138698554G>A	ENST00000370576.4	-	9	1287	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	MCF2_ENST00000370573.4_Nonsense_Mutation_p.Q360*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.Q505*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000536274.1_Nonsense_Mutation_p.Q321*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Q360*|MCF2_ENST00000520602.1_Nonsense_Mutation_p.Q420*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.Q420*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Q420*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	360					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGAGCTTTCTGAGCATCTTCT	0.348																																																	0													55	54	54					X																	138698554		2202	4296	6498	SO:0001587	stop_gained	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1078C>T	X.37:g.138698554G>A	ENSP00000359608:p.Gln360*		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q505*	ENST00000370576.4	37	c.1513	CCDS14667.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.080785	0.97267	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	.	.	.	5.84	2.95	0.34219	.	0.156524	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.6185	0.76787	0.0:0.4267:0.5733:0.0	.	.	.	.	X	420;360;321;505;420;420;360;360	.	ENSP00000342204:Q360X	Q	-	1	0	MCF2	138526220	0.999000	0.42202	0.926000	0.36857	0.988000	0.76386	2.453000	0.44970	0.138000	0.18790	0.544000	0.68410	CAG	MCF2	-	NULL		0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	G	NM_005369		138698554	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	138698554	G	A	138698554	4	1	110	1	0	0	0	0	0	1	0	0	9401	1299	45	1	1847	1	MCF2	23	138698554	Nonsense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	2968048	138698554	16572006	381	16627										
MAGEC3	139081	genome.wustl.edu	37	chrX	140967211	140967211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	aaggttgtggggggagaaagCggggaggtgggcagggaaat	23	2	0	1	rs369863174		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:140967211C>T	ENST00000298296.1	+	3	509	c.509C>T	c.(508-510)gCg>gTg	p.A170V	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	170										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGAAAGCGGGGAGGTGG	0.592																																																	0									VAL/ALA	0,3825		0,0,1632,561	23	20	21		509	-1.4	0	X		21	1,6705		0,1,2426,1852	no	missense	MAGEC3	NM_138702.1	64	0,1,4058,2413	TT,TC,CC,C		0.0149,0.0,0.0095	benign	170/644	140967211	1,10530	2193	4279	6472	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.509C>T	X.37:g.140967211C>T	ENSP00000298296:p.Ala170Val		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A170V	ENST00000298296.1	37	c.509	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	C	0.182	-1.061596	0.01950	0.0	1.49E-4	ENSG00000165509	ENST00000298296	T	0.03152	4.03	0.71	-1.42	0.08913	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45190	-0.9278	8	0.13470	T	0.59	.	.	.	.	.	170	Q8TD91	MAGC3_HUMAN	V	170	ENSP00000298296:A170V	ENSP00000298296:A170V	A	+	2	0	MAGEC3	140794877	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	-0.963000	0.03837	-2.665000	0.00417	-2.004000	0.00443	GCG	MAGEC3	-	NULL		0.592	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140967211	1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140967211	C	T	140967211	3	4	110	1	0	0	0	0	1	0	0	0	9205	768	27	2	519	2	MAGEC3	23	140967211	Missense_Mutation	SNP	C	TCGA-EK-A2RJ-01A-11D-A18J-09	2268657	140967211	14303349	382	16628										
FMR1	2332	genome.wustl.edu	37	chrX	147026442	147026442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	cagaatctgaccacagagacGaactcagtgattggtcatta	9	9	3	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:147026442G>A	ENST00000370475.4	+	15	1653	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	FMR1_ENST00000370471.3_Intron|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000440235.2_Missense_Mutation_p.E156K|FMR1_ENST00000439526.2_Missense_Mutation_p.E486K|FMR1_ENST00000370477.1_Missense_Mutation_p.E476K|FMR1_ENST00000218200.8_Missense_Mutation_p.E488K|FMR1_ENST00000370470.1_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	509	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGAGACGAACTCAGTGA	0.463									Fragile X syndrome																																								0													57	50	53					X																	147026442		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1525G>A	X.37:g.147026442G>A	ENSP00000359506:p.Glu509Lys		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.E509K	ENST00000370475.4	37	c.1525	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465524	0.84425	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.96	5.96	0.96718	.	0.044341	0.85682	N	0.000000	T	0.71484	0.3345	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.998;0.998;0.992	T	0.71899	-0.4453	10	0.56958	D	0.05	-27.6323	18.1588	0.89702	0.0:0.0:1.0:0.0	.	156;509;404;486	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	K	488;476;509;486;156	ENSP00000218200:E488K;ENSP00000359508:E476K;ENSP00000359506:E509K;ENSP00000395923:E486K;ENSP00000413764:E156K	ENSP00000218200:E488K	E	+	1	0	FMR1	146834134	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.130000	0.94437	2.512000	0.84698	0.594000	0.82650	GAA	FMR1	-	pfam_Frag_X_MRP_fam		0.463	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	G	NM_002024		147026442	1	no_errors	ENST00000370475	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147026442	G	A	147026442	3	1	110	1	0	0	0	0	1	0	0	0	5978	1059	37	1	1583	1	FMR1	23	147026442	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6059231	147026442	8244118	383	16629										
FLNA	2316	genome.wustl.edu	37	chrX	153599551	153599551	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	atctcggcgtcccgcgtgtcGacgccgccgcccggagccgc	14	19	1	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:153599551G>C	ENST00000369850.3	-	2	299	c.63C>G	c.(61-63)gtC>gtG	p.V21V	FLNA_ENST00000360319.4_Silent_p.V21V|FLNA_ENST00000422373.1_Silent_p.V21V|FLNA_ENST00000344736.4_Silent_p.V21V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	21	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGTGTCGACGCCGCCGC	0.706																																																	0													13	13	13					X																	153599551		2157	4243	6400	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.63C>G	X.37:g.153599551G>C			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V21	ENST00000369850.3	37	c.63	CCDS48194.1	X																																																																																			FLNA	-	NULL		0.706	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153599551	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	silent	SNP	0.000	C	C	153599551	G	C	153599551	2	2	110	1	0	0	0	0	0	0	0	1	5951	1045	37	1		1	FLNA	23	153599551	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	6573109	153599551	1671009	384	16630										
EMD	2010	genome.wustl.edu	37	chrX	153609278	153609278	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	ggccgggacagtgcctaccaGagcatcacgcactaccgccc	11	17	1	1			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:153609278G>A	ENST00000369842.4	+	6	774	c.486G>A	c.(484-486)caG>caA	p.Q162Q	EMD_ENST00000369835.3_Silent_p.Q127Q|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	162	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCCTACCAGAGCATCACGC	0.602																																																	0													118	82	94					X																	153609278		2203	4300	6503	SO:0001819	synonymous_variant	2010			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.486G>A	X.37:g.153609278G>A			Q6FI02	Silent	SNP	pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.Q162	ENST00000369842.4	37	c.486	CCDS14745.1	X																																																																																			EMD	-	NULL		0.602	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1	G			153609278	1	no_errors	ENST00000369842	ensembl	human	known	70_37	silent	SNP	0.998	A	A	153609278	G	A	153609278	2	1	110	1	0	0	0	0	0	0	0	1	5099	933	33	1		1	EMD	23	153609278	Silent	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	9727	153609278	1661282	385	16631										
SLC10A3	8273	genome.wustl.edu	37	chrX	153716084	153716084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	acgtggctaggcagtagcccAccaacaggccaaccaggggc	13	14	0	0			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:153716084A>G	ENST00000393587.4	-	3	1459	c.1196T>C	c.(1195-1197)gTg>gCg	p.V399A	SLC10A3_ENST00000393586.1_Missense_Mutation_p.V454A|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.V370A|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000263512.4_Missense_Mutation_p.V399A|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	399					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTAGCCCACCAACAGGCC	0.637																																																	0													50	40	43					X																	153716084		2203	4299	6502	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1196T>C	X.37:g.153716084A>G	ENSP00000377212:p.Val399Ala		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.V399A	ENST00000393587.4	37	c.1196	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483162	0.26598	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.09073	3.11;3.02;3.05;3.05	5.26	4.11	0.48088	.	0.171966	0.38217	U	0.001771	T	0.04452	0.0122	N	0.10733	0.035	0.34962	D	0.752294	B;B	0.27140	0.169;0.1	B;B	0.25987	0.065;0.065	T	0.32188	-0.9916	10	0.41790	T	0.15	-19.2855	8.744	0.34575	0.9079:0.0:0.0921:0.0	.	370;399	Q9BSL2;P09131	.;P3_HUMAN	A	370;454;399;399	ENSP00000358663:V370A;ENSP00000377211:V454A;ENSP00000263512:V399A;ENSP00000377212:V399A	ENSP00000263512:V399A	V	-	2	0	SLC10A3	153369278	1.000000	0.71417	0.998000	0.56505	0.399000	0.30720	4.313000	0.59160	1.749000	0.51849	0.486000	0.48141	GTG	SLC10A3	-	tigrfam_Bil_ac_transpt		0.637	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	A	NM_019848		153716084	-1	no_errors	ENST00000263512	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153716084	A	G	153716084	3	3	110	1	0	0	0	0	1	0	0	0	14405	159	6	5	241	5	SLC10A3	23	153716084	Missense_Mutation	SNP	A	TCGA-EK-A2RJ-01A-11D-A18J-09	106806	153716084	1554476	386	16632										
F8	2157	genome.wustl.edu	37	chrX	154066021	154066021	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.552356020942408	211	4.31137515498986e-80	4.10098450454007	5.03703595062655	3.42151568834531	0.566177839155969	0.772585272678265	160	gaaggagtcttgatttccctGaaaaacctgaaagaggaaag	11	6	1	4			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:154066021G>C	ENST00000360256.4	-	26	7107	c.6907C>G	c.(6907-6909)Cag>Gag	p.Q2303E	F8_ENST00000330287.6_Missense_Mutation_p.Q168E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2303	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGATTTCCCTGAAAAACCTGA	0.463																																																	0			GRCh37	CM074161	F8	M							59	54	56					X																	154066021		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6907C>G	X.37:g.154066021G>C	ENSP00000353393:p.Gln2303Glu		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q2303E	ENST00000360256.4	37	c.6907	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	10.30	1.312754	0.23908	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98105	-4.72;-4.72	4.74	1.43	0.22495	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.554280	0.17889	N	0.158562	D	0.92254	0.7543	L	0.28694	0.88	0.30296	N	0.789886	B;B	0.22003	0.063;0.003	B;B	0.22880	0.042;0.002	D	0.83626	0.0142	10	0.07325	T	0.83	-5.6495	5.5739	0.17212	0.1097:0.0:0.5324:0.3579	.	2303;168	P00451;Q14286	FA8_HUMAN;.	E	168;2303	ENSP00000327895:Q168E;ENSP00000353393:Q2303E	ENSP00000327895:Q168E	Q	-	1	0	F8	153719215	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.280000	0.33202	0.259000	0.21709	0.526000	0.51066	CAG	F8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154066021	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.986	C	C	154066021	G	C	154066021	3	2	110	1	0	0	0	0	1	0	0	0	5362	1299	45	1	152	1	F8	23	154066021	Missense_Mutation	SNP	G	TCGA-EK-A2RJ-01A-11D-A18J-09	349937	154066021	1204539	387	16633										
MMEL1	79258	genome.wustl.edu	37	chr1	2542727	2542727	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gggcggggcttacctgctatCacgcagccaggggtggtgca	17	11	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:2542727C>T	ENST00000378412.3	-	4	446	c.285G>A	c.(283-285)gtG>gtA	p.V95V	MMEL1_ENST00000288709.6_Silent_p.V86V|MMEL1_ENST00000502556.1_Silent_p.V95V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	95						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TACCTGCTATCACGCAGCCAG	0.706																																																	0													18	16	17					1																	2542727		2193	4294	6487	SO:0001819	synonymous_variant	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.285G>A	1.37:g.2542727C>T			B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V95	ENST00000378412.3	37	c.285	CCDS30569.2	1																																																																																			MMEL1	-	NULL		0.706	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2542727	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	silent	SNP	0.995	T	T	2542727	C	T	2542727	2	4	111	1	0	0	0	0	0	0	0	1	9669	813	29	1		1	MMEL1	1	2542727	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		2542727	246707894	1	16634										
NPHP4	261734	genome.wustl.edu	37	chr1	5937269	5937269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctcgcggctgacgtcctgggGccccttgccctgccgggcat	14	17	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:5937269G>A	ENST00000378156.4	-	20	2966	c.2701C>T	c.(2701-2703)Ccc>Tcc	p.P901S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	901					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCCTGGGGCCCCTTGCCC	0.677																																																	0													17	19	18					1																	5937269		2057	4166	6223	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2701C>T	1.37:g.5937269G>A	ENSP00000367398:p.Pro901Ser		Q8IWC0	Missense_Mutation	SNP	NULL	p.P901S	ENST00000378156.4	37	c.2701	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346751	0.24426	.	.	ENSG00000131697	ENST00000378156	D	0.87179	-2.22	5.11	1.11	0.20524	.	0.275955	0.29444	N	0.012137	T	0.76601	0.4010	L	0.39397	1.21	0.09310	N	1	B	0.21225	0.053	B	0.20955	0.032	T	0.56992	-0.7887	10	0.12430	T	0.62	.	7.0337	0.24980	0.446:0.0:0.554:0.0	.	901	O75161	NPHP4_HUMAN	S	901	ENSP00000367398:P901S	ENSP00000367398:P901S	P	-	1	0	NPHP4	5859856	0.139000	0.22563	0.067000	0.19924	0.021000	0.10359	1.357000	0.34090	0.565000	0.29255	0.462000	0.41574	CCC	NPHP4	-	NULL		0.677	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	G			5937269	-1	no_errors	ENST00000378156	ensembl	human	known	70_37	missense	SNP	0.009	A	A	5937269	G	A	5937269	3	1	111	1	0	0	0	0	1	0	0	0	10605	1203	42	4	1623	4	NPHP4	1	5937269	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3394542	5937269	243313352	2	16635										
CAMTA1	23261	genome.wustl.edu	37	chr1	7309668	7309668	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agagaggaccacatgaaactCaaggtccagggagtggaggt	15	7	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:7309668C>G	ENST00000303635.7	+	5	627	c.420C>G	c.(418-420)ctC>ctG	p.L140L	CAMTA1_ENST00000439411.2_Silent_p.L140L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACATGAAACTCAAGGTCCAGG	0.443			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													107	96	100					1																	7309668		2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.420C>G	1.37:g.7309668C>G			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.L140	ENST00000303635.7	37	c.420	CCDS30576.1	1																																																																																			CAMTA1	-	pfam_CG-1_dom		0.443	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	C	NM_015215		7309668	1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	1.000	G	G	7309668	C	G	7309668	2	3	111	1	0	0	0	0	0	0	0	1	2618	813	29	1		1	CAMTA1	1	7309668	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1372399	7309668	241940953	3	16636										
MTOR	2475	genome.wustl.edu	37	chr1	11181396	11181396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aacacctccaccttctgcatCagagtcaagtggtcatagtc	7	13	4	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:11181396C>T	ENST00000361445.4	-	49	6916	c.6840G>A	c.(6838-6840)ctG>ctA	p.L2280L	MTOR_ENST00000376838.1_Silent_p.L485L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2280	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTTCTGCATCAGAGTCAAGT	0.532																																																	0													134	108	117					1																	11181396		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6840G>A	1.37:g.11181396C>T			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2280	ENST00000361445.4	37	c.6840	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11181396	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11181396	C	T	11181396	2	4	111	1	0	0	0	0	0	0	0	1	9977	813	29	1		1	MTOR	1	11181396	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	3871728	11181396	238069225	4	16637										
HSPB7	27129	genome.wustl.edu	37	chr1	16344400	16344400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggtggaagaggaggaggaaGaggaagaggaatggaaactt	19	1	0	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:16344400G>C	ENST00000311890.9	-	1	885	c.59C>G	c.(58-60)tCt>tGt	p.S20C	HSPB7_ENST00000406363.2_Missense_Mutation_p.S20C|HSPB7_ENST00000411503.1_Missense_Mutation_p.S20C|HSPB7_ENST00000487046.1_Missense_Mutation_p.S20C|HSPB7_ENST00000375718.4_Intron|HSPB7_ENST00000545268.1_Missense_Mutation_p.S20C	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	20	Poly-Ser.|Required for localization to SC35 splicing speckles.				regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ggaggaggaagaggaagagga	0.652																																																	0													45	44	44					1																	16344400		2203	4300	6503	SO:0001583	missense	27129			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.59C>G	1.37:g.16344400G>C	ENSP00000310111:p.Ser20Cys		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.S20C	ENST00000311890.9	37	c.59	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716695	0.48622	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375714;ENST00000487046;ENST00000406363;ENST00000545268	D;D;D;D	0.95447	-3.03;-3.03;-3.71;-3.06	3.3	3.3	0.37823	.	0.000000	0.36482	N	0.002576	D	0.92371	0.7579	N	0.24115	0.695	0.21697	N	0.999581	D;D;D;B	0.63046	0.992;0.992;0.992;0.44	P;P;P;B	0.51355	0.667;0.667;0.667;0.308	D	0.85926	0.1449	10	0.39692	T	0.17	-5.5267	11.0613	0.47948	0.0:0.1908:0.8092:0.0	.	46;46;108;20	Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;HSPB7_HUMAN	C	20;20;108;20;20;20	ENSP00000391578:S20C;ENSP00000310111:S20C;ENSP00000419477:S20C;ENSP00000385472:S20C	ENSP00000310111:S20C	S	-	2	0	HSPB7	16216987	0.868000	0.29978	0.618000	0.29105	0.713000	0.41058	4.556000	0.60775	2.145000	0.66743	0.407000	0.27541	TCT	HSPB7	-	NULL		0.652	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	G	NM_014424		16344400	-1	no_errors	ENST00000487046	ensembl	human	known	70_37	missense	SNP	0.317	C	C	16344400	G	C	16344400	3	2	111	1	0	0	0	0	1	0	0	0	7442	942	33	1	465	1	HSPB7	1	16344400	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	5163004	16344400	232906221	5	16638										
HSPG2	3339	genome.wustl.edu	37	chr1	22202144	22202144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gctctcagcgggctgctgggCgtaggatgctcggatcagga	17	10	2	0	rs200196481		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:22202144C>T	ENST00000374695.3	-	25	3359	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1094	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCTGCTGGGCGTAGGATGCT	0.667													C|||	1	0.000199681	0	0	5008	,	,		16758	0		0.001	False		,,,				2504	0																0													68	74	72					1																	22202144		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3280G>A	1.37:g.22202144C>T	ENSP00000363827:p.Ala1094Thr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.A1094T	ENST00000374695.3	37	c.3280	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.336048	0.01287	.	.	ENSG00000142798	ENST00000374695	T	0.35973	1.28	5.44	1.81	0.25067	Laminin B type IV (2);Laminin B, subgroup (1);	1.276010	0.05726	N	0.598617	T	0.17408	0.0418	N	0.11313	0.125	0.25238	N	0.989779	B	0.11235	0.004	B	0.10450	0.005	T	0.22312	-1.0220	10	0.02654	T	1	.	6.4147	0.21710	0.0:0.3312:0.0:0.6688	.	1094	P98160	PGBM_HUMAN	T	1094	ENSP00000363827:A1094T	ENSP00000363827:A1094T	A	-	1	0	HSPG2	22074731	0.524000	0.26282	0.716000	0.30569	0.009000	0.06853	-0.042000	0.12063	0.380000	0.24823	-1.337000	0.01257	GCC	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22202144	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.994	T	T	22202144	C	T	22202144	3	4	111	1	0	0	0	0	1	0	0	0	7450	768	27	2	10187	2	HSPG2	1	22202144	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	5857744	22202144	227048477	6	16639										
HCRTR1	3061	genome.wustl.edu	37	chr1	32084964	32084964	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gcagcctatgtggctgtgttCgtcgtggccctggtgggcaa	16	10	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:32084964C>T	ENST00000373706.5	+	1	324	c.171C>T	c.(169-171)ttC>ttT	p.F57F	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Silent_p.F57F|HCRTR1_ENST00000373705.1_Silent_p.F57F			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	57					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGCTGTGTTCGTCGTGGCCC	0.587																																																	0													119	121	120					1																	32084964		2203	4300	6503	SO:0001819	synonymous_variant	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.171C>T	1.37:g.32084964C>T			A8K3A6|Q9HBV6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt	p.F57	ENST00000373706.5	37	c.171	CCDS344.1	1																																																																																			HCRTR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.587	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR1	HGNC	protein_coding	OTTHUMT00000011042.1	C	NM_001525		32084964	1	no_errors	ENST00000373706	ensembl	human	known	70_37	silent	SNP	0.996	T	T	32084964	C	T	32084964	2	4	111	1	0	0	0	0	0	0	0	1	7021	883	31	1		1	HCRTR1	1	32084964	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	9882820	32084964	217165657	7	16640										
S100PBP	64766	genome.wustl.edu	37	chr1	33291767	33291767	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tcttgcctaaagacggtgccCcattttcttgggattccttg	9	11	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:33291767C>G	ENST00000373475.5	+	3	321	c.67C>G	c.(67-69)Cca>Gca	p.P23A	S100PBP_ENST00000398243.3_Missense_Mutation_p.P23A|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.P23A	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGACGGTGCCCCATTTTCTTG	0.468																																																	0													166	153	157					1																	33291767		2203	4300	6503	SO:0001583	missense	64766			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.67C>G	1.37:g.33291767C>G	ENSP00000362574:p.Pro23Ala			Missense_Mutation	SNP	NULL	p.P23A	ENST00000373475.5	37	c.67	CCDS30666.1	1	.	.	.	.	.	.	.	.	.	.	C	7.647	0.682158	0.14907	.	.	ENSG00000116497	ENST00000530710;ENST00000373476;ENST00000373475;ENST00000529027;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000526230;ENST00000531256;ENST00000482212	.	.	.	5.71	0.421	0.16451	.	0.603497	0.15692	N	0.249378	T	0.21347	0.0514	N	0.24115	0.695	0.22354	N	0.999179	P;P	0.42296	0.775;0.587	B;B	0.38156	0.266;0.225	T	0.10177	-1.0641	9	0.62326	D	0.03	-0.2711	7.8509	0.29453	0.0:0.5301:0.0:0.4699	.	23;23	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	A	23	.	ENSP00000349117:P23A	P	+	1	0	S100PBP	33064354	0.158000	0.22850	0.860000	0.33809	0.102000	0.19082	-0.009000	0.12765	0.096000	0.17463	0.655000	0.94253	CCA	S100PBP	-	NULL		0.468	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	C	NM_022753		33291767	1	no_errors	ENST00000373475	ensembl	human	known	70_37	missense	SNP	0.480	G	G	33291767	C	G	33291767	3	3	111	1	0	0	0	0	1	0	0	0	13821	623	22	4	69	4	S100PBP	1	33291767	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1206803	33291767	215958854	8	16641										
EIF2C4	192670	genome.wustl.edu	37	chr1	36297122	36297122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgcaactgaaatacccccatCttccctgtctccaagtggga	7	14	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:36297122C>T	ENST00000373210.3	+	8	1188	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	315	PAZ. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ATACCCCCATCTTCCCTGTCT	0.383																																																	0													106	107	107					1																	36297122		2203	4300	6503	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.943C>T	1.37:g.36297122C>T	ENSP00000362306:p.Leu315Phe		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L315F	ENST00000373210.3	37	c.943	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870893	0.72065	.	.	ENSG00000134698	ENST00000373210	T	0.25749	1.78	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65076	-0.6256	10	0.51188	T	0.08	-4.8907	19.5182	0.95174	0.0:1.0:0.0:0.0	.	315	Q9HCK5	AGO4_HUMAN	F	315	ENSP00000362306:L315F	ENSP00000362306:L315F	L	+	1	0	EIF2C4	36069709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.439000	0.44846	2.603000	0.88011	0.655000	0.94253	CTT	EIF2C4	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ		0.383	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	C	NM_017629		36297122	1	no_errors	ENST00000373210	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36297122	C	T	36297122	3	4	111	1	0	0	0	0	1	0	0	0	5018	913	32	1	973	1	EIF2C4	1	36297122	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	3005355	36297122	212953499	9	16642										
EIF2C4	192670	genome.wustl.edu	37	chr1	36297445	36297445	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtggcaggacagcgatgtatCaagaagctcacagacaatca	11	9	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:36297445C>T	ENST00000373210.3	+	9	1274	c.1029C>T	c.(1027-1029)atC>atT	p.I343I		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	343					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AGCGATGTATCAAGAAGCTCA	0.433																																																	0													85	85	85					1																	36297445		2203	4300	6503	SO:0001819	synonymous_variant	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1029C>T	1.37:g.36297445C>T			A7MD27	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.I343	ENST00000373210.3	37	c.1029	CCDS397.1	1																																																																																			EIF2C4	-	pfam_PAZ,superfamily_PAZ,smart_PAZ		0.433	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	C	NM_017629		36297445	1	no_errors	ENST00000373210	ensembl	human	known	70_37	silent	SNP	0.826	T	T	36297445	C	T	36297445	2	4	111	1	0	0	0	0	0	0	0	1	5018	816	29	1		1	EIF2C4	1	36297445	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	323	36297445	212953176	10	16643										
KIAA0754	643314	genome.wustl.edu	37	chr1	39878795	39878795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agctgtcgcagggttctcccCagagtgggctgctttagcta	13	11	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:39878795C>T	ENST00000530275.1	+	1	2645	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	817	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGTTCTCCCCAGAGTGGGCT	0.577																																																	0													24	27	26					1																	39878795		2042	4188	6230	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2450C>T	1.37:g.39878795C>T	ENSP00000431179:p.Pro817Leu		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.P817L	ENST00000530275.1	37	c.2450		1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684741	0.29872	.	.	ENSG00000255103	ENST00000530275	T	0.34472	1.36	2.88	-0.353	0.12594	.	.	.	.	.	T	0.21468	0.0517	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20472	-1.0274	9	0.59425	D	0.04	.	6.9848	0.24723	0.0:0.6451:0.0:0.3549	.	817	O94854	K0754_HUMAN	L	817	ENSP00000431179:P817L	ENSP00000431179:P817L	P	+	2	0	RP4-562N20.1	39651382	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	0.516000	0.22817	-0.212000	0.10109	0.561000	0.74099	CCA	KIAA0754	-	NULL		0.577	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39878795	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.003	T	T	39878795	C	T	39878795	3	4	111	1	0	0	0	0	1	0	0	0	8212	594	21	4	2860	4	KIAA0754	1	39878795	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	3581350	39878795	209371826	11	16644										
KIAA0754	643314	genome.wustl.edu	37	chr1	39878942	39878942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caccccagaggagcccgcctCcccagctgctgcagtgccca	10	20	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:39878942C>T	ENST00000530275.1	+	1	2792	c.2597C>T	c.(2596-2598)tCc>tTc	p.S866F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	866	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCCGCCTCCCCAGCTGCT	0.677																																																	0													16	19	18					1																	39878942		1918	4116	6034	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2597C>T	1.37:g.39878942C>T	ENSP00000431179:p.Ser866Phe		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.S866F	ENST00000530275.1	37	c.2597		1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913928	0.33815	.	.	ENSG00000255103	ENST00000530275	T	0.25085	1.82	4.48	-2.51	0.06365	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	P	0.39157	0.662	B	0.33196	0.159	T	0.18241	-1.0343	9	0.72032	D	0.01	.	10.0951	0.42471	0.0:0.4584:0.0:0.5416	.	866	O94854	K0754_HUMAN	F	866	ENSP00000431179:S866F	ENSP00000431179:S866F	S	+	2	0	RP4-562N20.1	39651529	0.008000	0.16893	0.000000	0.03702	0.193000	0.23685	-0.229000	0.09098	-0.335000	0.08451	-0.448000	0.05591	TCC	KIAA0754	-	NULL		0.677	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39878942	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39878942	C	T	39878942	3	4	111	1	0	0	0	0	1	0	0	0	8212	855	30	1	3007	1	KIAA0754	1	39878942	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	147	39878942	209371679	12	16645										
SLC6A9	6536	genome.wustl.edu	37	chr1	44466890	44466890	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gccacagccacgcccaaggtCacataggtctttttctgcag	9	14	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:44466890C>G	ENST00000360584.2	-	10	1691	c.1500G>C	c.(1498-1500)gtG>gtC	p.V500V	SLC6A9_ENST00000475075.2_Silent_p.V316V|SLC6A9_ENST00000372306.3_Silent_p.V427V|SLC6A9_ENST00000357730.2_Silent_p.V446V|SLC6A9_ENST00000372310.3_Silent_p.V427V|SLC6A9_ENST00000537678.1_Silent_p.V362V|SLC6A9_ENST00000372307.3_Silent_p.V362V	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	500					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGCCCAAGGTCACATAGGTCT	0.597																																																	0													143	136	138					1																	44466890		2203	4300	6503	SO:0001819	synonymous_variant	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1500G>C	1.37:g.44466890C>G			A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.V500	ENST00000360584.2	37	c.1500	CCDS41317.1	1																																																																																			SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.597	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	C	NM_201649		44466890	-1	no_errors	ENST00000360584	ensembl	human	known	70_37	silent	SNP	1.000	G	G	44466890	C	G	44466890	2	3	111	1	0	0	0	0	0	0	0	1	14721	813	29	1		1	SLC6A9	1	44466890	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4587948	44466890	204783731	13	16646										
SPATA6	54558	genome.wustl.edu	37	chr1	48918758	48918758	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gccaaacacacagatgctaaGatagatgtcctctttgtctt	7	10	2	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:48918758G>A	ENST00000371847.3	-	2	261	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	SPATA6_ENST00000371843.3_Missense_Mutation_p.L33F|SPATA6_ENST00000396199.3_5'UTR|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	33					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CAGATGCTAAGATAGATGTCC	0.403																																																	0													152	142	145					1																	48918758		2203	4300	6503	SO:0001583	missense	54558			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.97C>T	1.37:g.48918758G>A	ENSP00000360913:p.Leu33Phe		Q5T3N7|Q8WUE6	Missense_Mutation	SNP	NULL	p.L33F	ENST00000371847.3	37	c.97	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362334	0.82353	.	.	ENSG00000132122	ENST00000371847;ENST00000371843	T;T	0.31769	1.48;1.48	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000005	T	0.54631	0.1870	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.57648	-0.7775	10	0.72032	D	0.01	.	16.0466	0.80724	0.0:0.0:1.0:0.0	.	33;33	Q9NWH7-2;Q9NWH7	.;SPAT6_HUMAN	F	33	ENSP00000360913:L33F;ENSP00000360909:L33F	ENSP00000360909:L33F	L	-	1	0	SPATA6	48691345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.624000	0.54231	2.407000	0.81776	0.555000	0.69702	CTT	SPATA6	-	NULL		0.403	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	G	NM_019073		48918758	-1	no_errors	ENST00000371847	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48918758	G	A	48918758	3	1	111	1	0	0	0	0	1	0	0	0	15043	942	33	1	1417	1	SPATA6	1	48918758	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4451868	48918758	200331863	14	16647										
MCOLN2	255231	genome.wustl.edu	37	chr1	85424280	85424280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tacactgcagctgtagtcatCttcatctgtaccagaatatc	6	11	4	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:85424280C>G	ENST00000370608.3	-	3	410	c.343G>C	c.(343-345)Gat>Cat	p.D115H	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.D87H	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	115					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTGTAGTCATCTTCATCTGTA	0.368																																																	0													106	102	103					1																	85424280		2203	4300	6503	SO:0001583	missense	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.343G>C	1.37:g.85424280C>G	ENSP00000359640:p.Asp115His		A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.D115H	ENST00000370608.3	37	c.343	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654361	0.67472	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.61040	0.14;0.14	6.07	6.07	0.98685	.	0.045428	0.85682	D	0.000000	T	0.65302	0.2678	M	0.69358	2.11	0.80722	D	1	D	0.58620	0.983	P	0.54499	0.754	T	0.64149	-0.6475	10	0.51188	T	0.08	-23.8848	20.6593	0.99626	0.0:1.0:0.0:0.0	.	115	Q8IZK6	MCLN2_HUMAN	H	115;87	ENSP00000359640:D115H;ENSP00000284027:D87H	ENSP00000284027:D87H	D	-	1	0	MCOLN2	85196868	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.440000	0.80464	2.885000	0.99019	0.655000	0.94253	GAT	MCOLN2	-	NULL		0.368	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	C	NM_153259		85424280	-1	no_errors	ENST00000370608	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85424280	C	G	85424280	3	3	111	1	0	0	0	0	1	0	0	0	9419	913	32	1	1405	1	MCOLN2	1	85424280	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	36505522	85424280	163826341	15	16648										
GBP4	115361	genome.wustl.edu	37	chr1	89658773	89658773	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cctgattagctctgctagctCagtcacatagctgggatctc	9	12	4	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:89658773C>G	ENST00000355754.6	-	5	581	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	162	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTGCTAGCTCAGTCACATAG	0.458																																																	0													109	101	104					1																	89658773		2203	4300	6503	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.484G>C	1.37:g.89658773C>G	ENSP00000359490:p.Glu162Gln		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.E162Q	ENST00000355754.6	37	c.484	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606357	0.66445	.	.	ENSG00000162654	ENST00000355754	D	0.83914	-1.78	4.93	4.93	0.64822	Guanylate-binding protein, N-terminal (1);	0.112791	0.56097	D	0.000025	D	0.89501	0.6733	M	0.87097	2.86	0.36015	D	0.838317	D	0.63046	0.992	P	0.60541	0.876	D	0.90759	0.4663	10	0.56958	D	0.05	.	15.9979	0.80265	0.0:1.0:0.0:0.0	.	162	Q96PP9	GBP4_HUMAN	Q	162	ENSP00000359490:E162Q	ENSP00000359490:E162Q	E	-	1	0	GBP4	89431361	1.000000	0.71417	0.999000	0.59377	0.461000	0.32589	2.934000	0.48956	2.716000	0.92895	0.655000	0.94253	GAG	GBP4	-	pfam_Guanylate-bd_N		0.458	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	C	NM_052941		89658773	-1	no_errors	ENST00000355754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89658773	C	G	89658773	3	3	111	1	0	0	0	0	1	0	0	0	6295	835	29	1	1466	1	GBP4	1	89658773	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4234493	89658773	159591848	16	16649										
SORT1	6272	genome.wustl.edu	37	chr1	109870156	109870156	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgcctacggcattcggctctGagagtggggccattggaaca	14	10	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:109870156G>A	ENST00000256637.6	-	12	1497	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	SORT1_ENST00000538502.1_Missense_Mutation_p.S343L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	480					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATTCGGCTCTGAGAGTGGGGC	0.488																																																	0													95	86	89					1																	109870156		2203	4300	6503	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1439C>T	1.37:g.109870156G>A	ENSP00000256637:p.Ser480Leu		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.S480L	ENST00000256637.6	37	c.1439	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361525	0.82353	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.39056	1.1;1.1	5.62	5.62	0.85841	VPS10 (1);	0.208574	0.40908	D	0.000989	T	0.63977	0.2557	M	0.83774	2.66	0.45914	D	0.998757	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.68723	-0.5333	10	0.87932	D	0	-4.314	18.4615	0.90739	0.0:0.0:1.0:0.0	.	343;480	B4DWI3;Q99523	.;SORT_HUMAN	L	480;343	ENSP00000256637:S480L;ENSP00000438597:S343L	ENSP00000256637:S480L	S	-	2	0	SORT1	109671679	1.000000	0.71417	0.963000	0.40424	0.795000	0.44927	5.796000	0.69080	2.648000	0.89879	0.650000	0.86243	TCA	SORT1	-	smart_VPS10		0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	G	NM_002959		109870156	-1	no_errors	ENST00000256637	ensembl	human	known	70_37	missense	SNP	0.943	A	A	109870156	G	A	109870156	3	1	111	1	0	0	0	0	1	0	0	0	14965	1294	45	1	1092	1	SORT1	1	109870156	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	20211383	109870156	139380465	17	16650										
GNAI3	2773	genome.wustl.edu	37	chr1	110125079	110125079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttatctaaatgatctggataGaatatcccagtctaactaca	5	8	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:110125079G>A	ENST00000369851.4	+	5	592	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	161					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GATCTGGATAGAATATCCCAG	0.373																																																	0													110	105	107					1																	110125079		2203	4300	6503	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.482G>A	1.37:g.110125079G>A	ENSP00000358867:p.Arg161Lys		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.R161K	ENST00000369851.4	37	c.482	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.306752	0.95629	.	.	ENSG00000065135	ENST00000369851	D	0.91295	-2.82	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	M	0.84846	2.72	0.80722	D	1	B	0.26400	0.148	B	0.38683	0.279	D	0.90519	0.4487	10	0.72032	D	0.01	.	19.9185	0.97074	0.0:0.0:1.0:0.0	.	161	P08754	GNAI3_HUMAN	K	161	ENSP00000358867:R161K	ENSP00000358867:R161K	R	+	2	0	GNAI3	109926602	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.795000	0.96236	0.655000	0.94253	AGA	GNAI3	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.373	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	G	NM_006496		110125079	1	no_errors	ENST00000369851	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110125079	G	A	110125079	3	1	111	1	0	0	0	0	1	0	0	0	6525	942	33	1	500	1	GNAI3	1	110125079	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	254923	110125079	139125542	18	16651										
LCE2D	353141	genome.wustl.edu	37	chr1	152636743	152636743	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgtggtcccagctctgggagCtgctgtggtcccagctctgg	15	12	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:152636743C>G	ENST00000368784.1	+	2	217	c.162C>G	c.(160-162)agC>agG	p.S54R		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	54	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGAGCTGCTGTGGTC	0.657																																																	0													93	104	100					1																	152636743		2203	4300	6503	SO:0001583	missense	353141			BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"Late cornified envelopes"	16518	protein-coding gene	gene with protein product		612612	"small proline rich-like (epidermal differentiation complex) 1A"	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.162C>G	1.37:g.152636743C>G	ENSP00000357773:p.Ser54Arg		A1L4M8	Missense_Mutation	SNP	NULL	p.S54R	ENST00000368784.1	37	c.162	CCDS1018.1	1	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042269	0.01997	.	.	ENSG00000187223	ENST00000368784	T	0.03663	3.85	2.29	-2.77	0.05877	.	.	.	.	.	T	0.01489	0.0048	M	0.73962	2.25	0.09310	N	1	B	0.20368	0.044	B	0.15484	0.013	T	0.44283	-0.9338	9	0.62326	D	0.03	.	2.2587	0.04061	0.2608:0.3798:0.0:0.3594	.	54	Q5TA82	LCE2D_HUMAN	R	54	ENSP00000357773:S54R	ENSP00000357773:S54R	S	+	3	2	LCE2D	150903367	0.000000	0.05858	0.145000	0.22337	0.071000	0.16799	-1.104000	0.03326	-0.266000	0.09339	0.305000	0.20034	AGC	LCE2D	-	NULL		0.657	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2D	HGNC	protein_coding	OTTHUMT00000040058.1	C	NM_178430		152636743	1	no_errors	ENST00000368784	ensembl	human	known	70_37	missense	SNP	0.592	G	G	152636743	C	G	152636743	3	3	111	1	0	0	0	0	1	0	0	0	8688	796	28	4	164	4	LCE2D	1	152636743	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	42511664	152636743	96613878	19	16652										
ADAR	103	genome.wustl.edu	37	chr1	154560627	154560627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccaccttggtgcggagctttCcttgtttgggattctcgaag	12	10	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:154560627C>G	ENST00000368474.4	-	11	3192	c.2993G>C	c.(2992-2994)gGa>gCa	p.G998A	ADAR_ENST00000368471.3_Missense_Mutation_p.G703A|ADAR_ENST00000292205.5_Missense_Mutation_p.G1041A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	998	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCGGAGCTTTCCTTGTTTGGG	0.567																																																	0													249	226	234					1																	154560627		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2993G>C	1.37:g.154560627C>G	ENSP00000357459:p.Gly998Ala		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.G1041A	ENST00000368474.4	37	c.3122	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.291754	0.95546	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.58	5.58	0.84498	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96286	0.9210	10	0.66056	D	0.02	-23.2228	19.5563	0.95349	0.0:1.0:0.0:0.0	.	953;972;998	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	1041;998;703;967	ENSP00000292205:G1041A;ENSP00000357459:G998A;ENSP00000357456:G703A;ENSP00000431794:G967A	ENSP00000292205:G1041A	G	-	2	0	ADAR	152827251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.245000	0.78237	2.628000	0.89032	0.650000	0.86243	GGA	ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.567	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	C	NM_001111		154560627	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154560627	C	G	154560627	3	3	111	1	0	0	0	0	1	0	0	0	281	855	30	1	707	1	ADAR	1	154560627	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1923884	154560627	94689994	20	16653										
INSRR	3645	genome.wustl.edu	37	chr1	156814526	156814526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aagcggcggtacttgatttcGtacttgaggatgagtccgtt	13	7	0	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:156814526G>A	ENST00000368195.3	-	13	2943	c.2547C>T	c.(2545-2547)taC>taT	p.Y849Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	849	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTTGATTTCGTACTTGAGGA	0.607																																																	0													72	71	71					1																	156814526		2203	4300	6503	SO:0001819	synonymous_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2547C>T	1.37:g.156814526G>A			O60724|Q5VZS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y849	ENST00000368195.3	37	c.2547	CCDS1160.1	1																																																																																			INSRR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156814526	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	silent	SNP	0.979	A	A	156814526	G	A	156814526	2	1	111	1	0	0	0	0	0	0	0	1	7794	1140	40	2		2	INSRR	1	156814526	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2253899	156814526	92436095	21	16654										
KIRREL	55243	genome.wustl.edu	37	chr1	158047909	158047909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggccgccctgcgctctcggCgggccaaactcaccgtgctc	12	18	2	0	rs151150995		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:158047909C>T	ENST00000359209.6	+	3	398	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	KIRREL_ENST00000392272.2_Missense_Mutation_p.R111W|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Missense_Mutation_p.R50W|KIRREL_ENST00000368173.3_Missense_Mutation_p.R111W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	111	Ig-like C2-type 1.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCGCTCTCGGCGGGCCAAACT	0.612																																																	0								C	TRP/ARG	0,4406		0,0,2203	98	94	95		331	-0.7	1	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIRREL	NM_018240.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	111/758	158047909	1,13005	2203	4300	6503	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.331C>T	1.37:g.158047909C>T	ENSP00000352138:p.Arg111Trp		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R111W	ENST00000359209.6	37	c.331	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141851	0.57044	0.0	1.16E-4	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209	T;T;T;T	0.67698	1.64;-0.28;-0.28;-0.28	4.14	-0.732	0.11147	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232481	0.20710	N	0.087120	T	0.68007	0.2954	M	0.75085	2.285	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.65010	0.822;0.931	T	0.69803	-0.5046	10	0.37606	T	0.19	-15.8239	11.8307	0.52293	0.7321:0.2679:0.0:0.0	.	50;111	Q5W0F9;Q96J84	.;KIRR1_HUMAN	W	50;111;111;111	ENSP00000353202:R50W;ENSP00000357155:R111W;ENSP00000376098:R111W;ENSP00000352138:R111W	ENSP00000352138:R111W	R	+	1	2	KIRREL	156314533	0.013000	0.17824	0.994000	0.49952	0.984000	0.73092	-0.229000	0.09098	0.075000	0.16796	0.467000	0.42956	CGG	KIRREL	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	C	NM_018240		158047909	1	no_errors	ENST00000368173	ensembl	human	known	70_37	missense	SNP	0.974	T	T	158047909	C	T	158047909	3	4	111	1	0	0	0	0	1	0	0	0	8344	759	27	2	341	2	KIRREL	1	158047909	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1233383	158047909	91202712	22	16655										
IFI16	3428	genome.wustl.edu	37	chr1	159021543	159021543	+	Silent	SNP	G	G	A													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagagtgacctcaaagaagtGatggtgctgaacgcaacaga							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:159021543G>A	ENST00000295809.7	+	10	1995	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	IFI16_ENST00000448393.2_Silent_p.V468V|IFI16_ENST00000368131.4_Silent_p.V524V|IFI16_ENST00000359709.3_Silent_p.V524V|IFI16_ENST00000340979.6_Silent_p.V468V|IFI16_ENST00000368132.3_Silent_p.V524V|IFI16_ENST00000430894.2_Silent_p.V528V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	580	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAAAGAAGTGATGGTGCTGA	0.428																																																	0													89	92	91					1																	159021543		2203	4300	6503	SO:0001819	synonymous_variant	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1740G>A	1.37:g.159021543G>A			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.V580	ENST00000295809.7	37	c.1740		1																																																																																			IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.428	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		159021543	1	no_errors	ENST00000295809	ensembl	human	known	70_37	silent	SNP	0.149	A	A	159021543	G	A	159021543	2	1	111	1	0	0	0	0	0	0	0	1	7531	1277	45	1		1	IFI16	1	159021543	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	973634	159021543	90229078	23	16656	91	2								
IFI16	3428	genome.wustl.edu	37	chr1	159021552	159021552	+	Silent	SNP	G	G	A													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctcaaagaagtgatggtgctGaacgcaacagaatcatttgt							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:159021552G>A	ENST00000295809.7	+	10	2004	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	IFI16_ENST00000448393.2_Silent_p.L471L|IFI16_ENST00000368131.4_Silent_p.L527L|IFI16_ENST00000359709.3_Silent_p.L527L|IFI16_ENST00000340979.6_Silent_p.L471L|IFI16_ENST00000368132.3_Silent_p.L527L|IFI16_ENST00000430894.2_Silent_p.L531L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	583	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGATGGTGCTGAACGCAACAG	0.428																																																	0													90	93	92					1																	159021552		2203	4300	6503	SO:0001819	synonymous_variant	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1749G>A	1.37:g.159021552G>A			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.L583	ENST00000295809.7	37	c.1749		1																																																																																			IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.428	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		159021552	1	no_errors	ENST00000295809	ensembl	human	known	70_37	silent	SNP	0.592	A	A	159021552	G	A	159021552	2	1	111	1	0	0	0	0	0	0	0	1	7531	1277	45	1		1	IFI16	1	159021552	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	9	159021552	90229069	24	16657	91	2								
TOMM40L	84134	genome.wustl.edu	37	chr1	161197766	161197766	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	accctaggaaatcctgacctGattggggagtcgggtgagga	15	8	0	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:161197766G>A	ENST00000367988.3	+	6	740	c.471G>A	c.(469-471)ctG>ctA	p.L157L	MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000545897.1_Silent_p.L123L|TOMM40L_ENST00000367987.1_Silent_p.L157L	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	157					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCCTGACCTGATTGGGGAGT	0.517											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	56	56					1																	161197766		2203	4300	6503	SO:0001819	synonymous_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.471G>A	1.37:g.161197766G>A		1814	B7Z4U0|D3DVG9	Silent	SNP	pfam_Porin_Euk	p.L157	ENST00000367988.3	37	c.471	CCDS1227.1	1																																																																																			TOMM40L	-	pfam_Porin_Euk		0.517	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	G	NM_032174		161197766	1	no_errors	ENST00000367987	ensembl	human	known	70_37	silent	SNP	1.000	A	A	161197766	G	A	161197766	2	1	111	1	0	0	0	0	0	0	0	1	16389	1277	45	1		1	TOMM40L	1	161197766	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2176214	161197766	88052855	25	16658										
HSD17B7	51478	genome.wustl.edu	37	chr1	162773227	162773227	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctctctgttcctagggtctcTattccaatgtggcctgtcca	8	13	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:162773227T>G	ENST00000254521.3	+	6	704	c.649T>G	c.(649-651)Tat>Gat	p.Y217D	HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	217					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					CTAGGGTCTCTATTCCAATGT	0.423																																																	0													73	65	67					1																	162773227		2203	4292	6495	SO:0001583	missense	51478			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.649T>G	1.37:g.162773227T>G	ENSP00000254521:p.Tyr217Asp		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.Y217D	ENST00000254521.3	37	c.649	CCDS1242.1	1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907763	0.52333	.	.	ENSG00000132196	ENST00000254521	T	0.77098	-1.07	4.68	4.68	0.58851	NAD(P)-binding domain (1);	0.177641	0.50627	D	0.000101	D	0.82287	0.5004	M	0.79475	2.455	0.34533	D	0.709429	D	0.71674	0.998	D	0.63381	0.914	D	0.85029	0.0916	9	0.56958	D	0.05	-22.8921	11.8987	0.52671	0.0:0.0:0.0:1.0	.	217	P56937	DHB7_HUMAN	D	217	ENSP00000254521:Y217D	ENSP00000254521:Y217D	Y	+	1	0	HSD17B7	161039851	1.000000	0.71417	0.992000	0.48379	0.134000	0.20937	7.392000	0.79840	2.084000	0.62774	0.528000	0.53228	TAT	HSD17B7	-	prints_Glc/ribitol_DH		0.423	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B7	HGNC	protein_coding	OTTHUMT00000083207.1	T	NM_016371		162773227	1	no_errors	ENST00000254521	ensembl	human	known	70_37	missense	SNP	1.000	G	G	162773227	T	G	162773227	3	3	111	1	0	0	0	0	1	0	0	0	7408	1522	53	5	671	5	HSD17B7	1	162773227	Missense_Mutation	SNP	T	TCGA-EK-A2RK-01A-11D-A18J-09	1575461	162773227	86477394	26	16659										
NME7	29922	genome.wustl.edu	37	chr1	169292499	169292499	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	atttggtccgctttaaaaagGtgcgatgattctttacatca	8	7	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:169292499G>C	ENST00000367811.3	-	3	390	c.134C>G	c.(133-135)aCc>aGc	p.T45S	NME7_ENST00000472647.1_Missense_Mutation_p.T9S|NME7_ENST00000469474.1_5'UTR|RP4-800F24.1_ENST00000432081.1_RNA	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	45	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CTTTAAAAAGGTGCGATGATT	0.318																																																	0													149	158	155					1																	169292499		2203	4300	6503	SO:0001583	missense	29922			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.134C>G	1.37:g.169292499G>C	ENSP00000356785:p.Thr45Ser		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.T45S	ENST00000367811.3	37	c.134	CCDS1277.1	1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861614	0.32884	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55930	0.49;0.49	5.48	3.59	0.41128	Uncharacterised domain DM10 (2);	0.356818	0.31472	N	0.007586	T	0.25865	0.0630	M	0.71871	2.18	0.36107	D	0.844516	B;B	0.33512	0.415;0.276	B;B	0.34301	0.179;0.098	T	0.12578	-1.0542	9	0.10111	T	0.7	-8.6685	6.1073	0.20081	0.2223:0.1358:0.6419:0.0	.	49;45	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	S	9;45	ENSP00000433341:T9S;ENSP00000356785:T45S	ENSP00000356785:T45S	T	-	2	0	NME7	167559123	0.247000	0.23920	0.980000	0.43619	0.971000	0.66376	1.389000	0.34453	1.317000	0.45149	0.655000	0.94253	ACC	NME7	-	smart_Uncharacterised_DM10,pirsf_NDK7		0.318	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1	G	NM_013330		169292499	-1	no_errors	ENST00000367811	ensembl	human	known	70_37	missense	SNP	0.003	C	C	169292499	G	C	169292499	3	2	111	1	0	0	0	0	1	0	0	0	10520	1261	44	4	1036	4	NME7	1	169292499	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	6519272	169292499	79958122	27	16660										
PKP1	5317	genome.wustl.edu	37	chr1	201282404	201282404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggcagctgtaacaccaccggCgcaggcagcgacatctgctt	12	14	1	0	rs374045033	byFrequency	TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:201282404C>T	ENST00000352845.3	+	3	417	c.417C>T	c.(415-417)ggC>ggT	p.G139G	PKP1_ENST00000263946.3_Silent_p.G139G|PKP1_ENST00000367324.3_Silent_p.G139G			Q13835	PKP1_HUMAN	plakophilin 1	139					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ACACCACCGGCGCAGGCAGCG	0.642													C|||	3	0.000599042	0	0	5008	,	,		15163	0.003		0	False		,,,				2504	0																0													18	20	19					1																	201282404		2203	4299	6502	SO:0001819	synonymous_variant	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.417C>T	1.37:g.201282404C>T			O00645|Q14CA0|Q15152	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G139	ENST00000352845.3	37	c.417	CCDS30966.1	1																																																																																			PKP1	-	NULL		0.642	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	C	NM_000299		201282404	1	no_errors	ENST00000263946	ensembl	human	known	70_37	silent	SNP	0.000	T	T	201282404	C	T	201282404	2	4	111	1	0	0	0	0	0	0	0	1	12008	755	27	2		2	PKP1	1	201282404	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	31989905	201282404	47968217	28	16661										
PLEKHA6	22874	genome.wustl.edu	37	chr1	204197977	204197977	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttcagggatgaggactttgtCtggagtggagagctatggag	17	4	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:204197977C>G	ENST00000272203.3	-	20	3080	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.D942H	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	922										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGACTTTGTCTGGAGTGGAG	0.562																																																	0													160	146	151					1																	204197977		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2764G>C	1.37:g.204197977C>G	ENSP00000272203:p.Asp922His		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D922H	ENST00000272203.3	37	c.2764	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701312	0.68501	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.40756	1.02;1.02	5.3	5.3	0.74995	.	0.118400	0.56097	D	0.000024	T	0.65811	0.2727	M	0.71581	2.175	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.68887	-0.5290	10	0.72032	D	0.01	-39.6059	18.5393	0.91022	0.0:1.0:0.0:0.0	.	922	Q9Y2H5	PKHA6_HUMAN	H	922;942	ENSP00000272203:D922H;ENSP00000402046:D942H	ENSP00000272203:D922H	D	-	1	0	PLEKHA6	202464600	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.484000	0.60271	2.466000	0.83321	0.563000	0.77884	GAC	PLEKHA6	-	NULL		0.562	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	C	NM_014935		204197977	-1	no_errors	ENST00000272203	ensembl	human	known	70_37	missense	SNP	0.998	G	G	204197977	C	G	204197977	3	3	111	1	0	0	0	0	1	0	0	0	12084	913	32	1	394	1	PLEKHA6	1	204197977	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2915573	204197977	45052644	29	16662										
PSEN2	5664	genome.wustl.edu	37	chr1	227079026	227079026	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgaagctggacccctcctctCagggtgccctccagctcccc	9	20	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:227079026C>T	ENST00000366783.3	+	10	1370	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	PSEN2_ENST00000366782.1_Nonsense_Mutation_p.Q345*|PSEN2_ENST00000391872.2_Nonsense_Mutation_p.Q345*|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000340188.4_Nonsense_Mutation_p.Q279*|PSEN2_ENST00000472139.2_Nonsense_Mutation_p.Q168*|PSEN2_ENST00000422240.2_Nonsense_Mutation_p.Q312*	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	312					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCCTCCTCTCAGGGTGCCCT	0.627																																																	0													55	47	50					1																	227079026		2203	4300	6503	SO:0001587	stop_gained	5664			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.934C>T	1.37:g.227079026C>T	ENSP00000355747:p.Gln312*		A8K8D4|B1AP21|Q96P32	Nonsense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS2,prints_Peptidase_A22A	p.Q345*	ENST00000366783.3	37	c.1033	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278399	0.80692	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	.	.	.	5.25	3.23	0.37069	.	0.545908	0.20643	N	0.088379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.9873	0.24735	0.264:0.5821:0.154:0.0	.	.	.	.	X	312;279;312;139;345;345;168	.	ENSP00000339860:Q279X	Q	+	1	0	PSEN2	225145649	0.808000	0.29022	0.997000	0.53966	0.988000	0.76386	1.253000	0.32886	2.438000	0.82558	0.655000	0.94253	CAG	PSEN2	-	smart_Peptidase_A22,prints_Pept_A22A_PS2		0.627	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	HGNC	protein_coding	OTTHUMT00000091539.1	C	NM_000447		227079026	1	no_errors	ENST00000391872	ensembl	human	known	70_37	nonsense	SNP	0.711	T	T	227079026	C	T	227079026	4	4	111	1	0	0	0	0	0	1	0	0	12678	827	29	1	960	1	PSEN2	1	227079026	Nonsense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	22881049	227079026	22171595	30	16663										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232534989	232534989	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgtctcaggtgctgcacttCtgcttggagaacggccttgt	12	11	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:232534989C>T	ENST00000366630.1	-	22	5411	c.5053G>A	c.(5053-5055)Gaa>Aaa	p.E1685K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1685K|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E741K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1685					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCTGCACTTCTGCTTGGAGA	0.498																																																	0													109	105	106					1																	232534989		2082	4235	6317	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.5053G>A	1.37:g.232534989C>T	ENSP00000355589:p.Glu1685Lys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E1685K	ENST00000366630.1	37	c.5053	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022396	0.54683	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	D;D;T	0.84298	-1.83;-1.83;2.04	4.99	2.97	0.34412	.	0.061282	0.64402	D	0.000006	D	0.88731	0.6516	M	0.80982	2.52	0.43868	D	0.996471	P;D	0.55800	0.91;0.973	B;P	0.50405	0.294;0.64	D	0.90986	0.4831	10	0.87932	D	0	-29.7354	15.1121	0.72365	0.0:0.7328:0.2672:0.0	.	1685;741	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	K	1685;1685;741	ENSP00000355589:E1685K;ENSP00000262861:E1685K;ENSP00000309102:E741K	ENSP00000262861:E1685K	E	-	1	0	SIPA1L2	230601612	0.993000	0.37304	0.529000	0.27951	0.491000	0.33493	3.007000	0.49536	1.289000	0.44618	0.460000	0.39030	GAA	SIPA1L2	-	NULL		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232534989	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	0.913	T	T	232534989	C	T	232534989	3	4	111	1	0	0	0	0	1	0	0	0	14360	922	32	1	119	1	SIPA1L2	1	232534989	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	5455963	232534989	16715632	31	16664										
TARBP1	6894	genome.wustl.edu	37	chr1	234527332	234527332	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggaaggcacatcatggcttGgtatctccgtgcgagagcag	14	9	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:234527332G>C	ENST00000040877.1	-	30	4856	c.4857C>G	c.(4855-4857)acC>acG	p.T1619T	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1619					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATCATGGCTTGGTATCTCCGT	0.458																																																	0													54	47	49					1																	234527332		2203	4300	6503	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4857C>G	1.37:g.234527332G>C			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.T1619	ENST00000040877.1	37	c.4857	CCDS1601.1	1																																																																																			TARBP1	-	NULL		0.458	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	G	NM_005646		234527332	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	silent	SNP	0.000	C	C	234527332	G	C	234527332	2	2	111	1	0	0	0	0	0	0	0	1	15585	1335	47	4		4	TARBP1	1	234527332	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	1992343	234527332	14723289	32	16665										
OR2T10	127069	genome.wustl.edu	37	chr1	248756633	248756633	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agcccacaaaccagcagcctGatgccaggaggagacatacc	10	14	0	2	rs200418834		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr1:248756633G>A	ENST00000330500.2	-	1	467	c.437C>T	c.(436-438)tCa>tTa	p.S146L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGCAGCCTGATGCCAGGAG	0.547													g|||	1	0.000199681	0	0.0014	5008	,	,		18547	0		0	False		,,,				2504	0																0													109	115	113					1																	248756633		2052	4233	6285	SO:0001583	missense	127069				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.437C>T	1.37:g.248756633G>A	ENSP00000329210:p.Ser146Leu		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S146L	ENST00000330500.2	37	c.437	CCDS31121.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	1.945	-0.442758	0.04604	.	.	ENSG00000184022	ENST00000330500	T	0.33216	1.42	2.35	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17534	0.0421	N	0.12611	0.24	0.09310	N	1	P	0.41848	0.763	B	0.42163	0.378	T	0.10086	-1.0645	9	0.41790	T	0.15	.	6.5247	0.22295	0.2714:0.0:0.7286:0.0	.	146	Q8NGZ9	O2T10_HUMAN	L	146	ENSP00000329210:S146L	ENSP00000329210:S146L	S	-	2	0	OR2T10	246823256	0.000000	0.05858	0.605000	0.28930	0.011000	0.07611	-0.270000	0.08584	1.123000	0.41961	0.447000	0.29281	TCA	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	G	NM_001004693		248756633	-1	no_errors	ENST00000330500	ensembl	human	known	70_37	missense	SNP	0.000	A	A	248756633	G	A	248756633	3	1	111	1	0	0	0	0	1	0	0	0	11041	1294	45	1	504	1	OR2T10	1	248756633	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	14229301	248756633	493988	33	16666										
USP34	9736	genome.wustl.edu	37	chr2	61493167	61493167	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtgtattagcctgtagttctCaacagacccctttaccatct	6	12	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:61493167C>T	ENST00000398571.2	-	42	5645	c.5569G>A	c.(5569-5571)Gag>Aag	p.E1857K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1857					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGTAGTTCTCAACAGACCCC	0.393																																																	0													148	137	140					2																	61493167		1866	4101	5967	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5569G>A	2.37:g.61493167C>T	ENSP00000381577:p.Glu1857Lys		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E1857K	ENST00000398571.2	37	c.5569	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808931	0.70797	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03889	3.92;3.77	5.48	5.48	0.80851	Armadillo-type fold (1);	0.053154	0.64402	D	0.000001	T	0.08358	0.0208	N	0.08118	0	0.58432	D	0.999998	P	0.52842	0.956	D	0.65010	0.931	T	0.57802	-0.7748	10	0.22706	T	0.39	.	17.5436	0.87855	0.0:1.0:0.0:0.0	.	1857	Q70CQ2	UBP34_HUMAN	K	1705;1705;1857;135	ENSP00000381577:E1857K;ENSP00000410559:E135K	ENSP00000263989:E1705K	E	-	1	0	USP34	61346671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.584000	0.87258	0.563000	0.77884	GAG	USP34	-	superfamily_ARM-type_fold		0.393	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61493167	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61493167	C	T	61493167	3	4	111	1	0	0	0	0	1	0	0	0	17096	835	29	1	5227	1	USP34	2	61493167	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		61493167	181706206	34	16667										
C2orf89	129293	genome.wustl.edu	37	chr2	85051106	85051106	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggcggacccacagatcgctGaattgccggagtcgcggcct	14	13	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:85051106G>A	ENST00000409520.2	-	6	1347	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Silent_p.F386F	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	435					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										ACAGATCGCTGAATTGCCGGA	0.647																																																	0													36	42	40					2																	85051106		2201	4300	6501	SO:0001819	synonymous_variant	129293			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1305C>T	2.37:g.85051106G>A			B4DKK8|I6UMB9	Silent	SNP	NULL	p.F435	ENST00000409520.2	37	c.1305		2																																																																																			TRABD2A	-	NULL		0.647	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		G	NM_001080824		85051106	-1	no_errors	ENST00000409520	ensembl	human	known	70_37	silent	SNP	0.000	A	A	85051106	G	A	85051106	2	1	111	1	0	0	0	0	0	0	0	1	2208	1281	45	1		1	C2orf89	2	85051106	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	23557939	85051106	158148267	35	16668										
CNGA3	1261	genome.wustl.edu	37	chr2	99006149	99006149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgaaaaagaaggatgcgatcGtggtggacccgtccagcaac	13	10	0	1	rs373542579		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:99006149G>A	ENST00000272602.2	+	5	517	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	CNGA3_ENST00000436404.2_Missense_Mutation_p.V142M|CNGA3_ENST00000393504.1_Missense_Mutation_p.V160M|CNGA3_ENST00000409937.1_Missense_Mutation_p.V164M			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	160					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGATGCGATCGTGGTGGACCC	0.522																																																	0								G	MET/VAL,MET/VAL	0,4406		0,0,2203	168	154	158		424,478	3.8	0.6	2		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	142/677,160/695	99006149	1,13005	2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.478G>A	2.37:g.99006149G>A	ENSP00000272602:p.Val160Met		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.V160M	ENST00000272602.2	37	c.478	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371141	0.24771	0.0	1.16E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98060	-4.6;-4.56;-4.6;-4.69	4.72	3.84	0.44239	.	0.118540	0.56097	N	0.000023	D	0.97225	0.9093	M	0.85859	2.78	0.34968	D	0.752868	P;D;D	0.61080	0.939;0.97;0.989	B;B;P	0.45232	0.393;0.393;0.474	D	0.99289	1.0898	10	0.66056	D	0.02	.	11.8959	0.52656	0.0868:0.0:0.9132:0.0	.	164;142;160	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	M	160;142;160;164	ENSP00000377140:V160M;ENSP00000410070:V142M;ENSP00000272602:V160M;ENSP00000386761:V164M	ENSP00000272602:V160M	V	+	1	0	CNGA3	98372581	1.000000	0.71417	0.625000	0.29200	0.029000	0.11900	3.609000	0.54117	1.207000	0.43291	-0.379000	0.06801	GTG	CNGA3	-	NULL		0.522	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	G	NM_001298		99006149	1	no_errors	ENST00000272602	ensembl	human	known	70_37	missense	SNP	0.893	A	A	99006149	G	A	99006149	3	1	111	1	0	0	0	0	1	0	0	0	3603	1145	40	2	496	2	CNGA3	2	99006149	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	13955043	99006149	144193224	36	16669										
LCT	3938	genome.wustl.edu	37	chr2	136564854	136564854	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgaggcctgttcgtgttgttGaaatcaacatggtacagtcc	11	9	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:136564854G>A	ENST00000264162.2	-	9	4027	c.4017C>T	c.(4015-4017)ttC>ttT	p.F1339F	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1339	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCGTGTTGTTGAAATCAACAT	0.512																																																	0													210	167	182					2																	136564854		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4017C>T	2.37:g.136564854G>A			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.F1339	ENST00000264162.2	37	c.4017	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1		0.512	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	G	NM_002299		136564854	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	silent	SNP	0.002	A	A	136564854	G	A	136564854	2	1	111	1	0	0	0	0	0	0	0	1	8713	1281	45	1		1	LCT	2	136564854	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	37558705	136564854	106634519	37	16670										
KBTBD10	10324	genome.wustl.edu	37	chr2	170366664	170366664	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttactgtctgcgtttcttatCttcagaaaagacttgctcct	6	10	4	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:170366664C>T	ENST00000284669.1	+	1	453	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	126					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CGTTTCTTATCTTCAGAAAAG	0.458																																																	0													117	129	125					2																	170366664		2203	4300	6503	SO:0001583	missense	10324			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.376C>T	2.37:g.170366664C>T	ENSP00000284669:p.Leu126Phe		Q53R42	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L126F	ENST00000284669.1	37	c.376	CCDS2234.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085768	0.76642	.	.	ENSG00000239474	ENST00000284669	D	0.83075	-1.68	5.17	5.17	0.71159	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.92466	0.7608	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93684	0.7001	10	0.87932	D	0	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	126	O60662	KBTBA_HUMAN	F	126	ENSP00000284669:L126F	ENSP00000284669:L126F	L	+	1	0	KBTBD10	170074910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.411000	0.81874	0.585000	0.79938	CTT	KBTBD10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.458	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	C	NM_006063		170366664	1	no_errors	ENST00000284669	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170366664	C	T	170366664	3	4	111	1	0	0	0	0	1	0	0	0	8010	913	32	1	378	1	KBTBD10	2	170366664	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	33801810	170366664	72832709	38	16671										
TTC30B	150737	genome.wustl.edu	37	chr2	178415583	178415583	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctttccaacatgcattctttCttcttccaggggttgttcaa	6	11	4	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:178415583C>G	ENST00000408939.3	-	1	2159	c.1909G>C	c.(1909-1911)Gaa>Caa	p.E637Q		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	637					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TGCATTCTTTCTTCTTCCAGG	0.363																																																	0													148	152	150					2																	178415583		2201	4300	6501	SO:0001583	missense	150737			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1909G>C	2.37:g.178415583C>G	ENSP00000386181:p.Glu637Gln		Q63HQ1|Q96NE6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E637Q	ENST00000408939.3	37	c.1909	CCDS42784.1	2	.	.	.	.	.	.	.	.	.	.	C	4.475	0.088005	0.08583	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.17854	2.25	4.94	4.94	0.65067	.	0.321128	0.38548	N	0.001645	T	0.11537	0.0281	N	0.25144	0.715	0.40827	D	0.983559	B	0.02656	0.0	B	0.06405	0.002	T	0.13899	-1.0492	10	0.20519	T	0.43	.	12.5595	0.56273	0.0:0.9126:0.0:0.0874	.	637	Q8N4P2	TT30B_HUMAN	Q	590;637	ENSP00000386181:E637Q	ENSP00000386181:E637Q	E	-	1	0	TTC30B	178123829	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	3.174000	0.50847	2.715000	0.92844	0.655000	0.94253	GAA	TTC30B	-	NULL		0.363	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	C	NM_152517		178415583	-1	no_errors	ENST00000408939	ensembl	human	known	70_37	missense	SNP	0.998	G	G	178415583	C	G	178415583	3	3	111	1	0	0	0	0	1	0	0	0	16730	922	32	1	92	1	TTC30B	2	178415583	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	8048919	178415583	64783790	39	16672										
TTN	7273	genome.wustl.edu	37	chr2	179395192	179395192	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgatatttttgataccttctCatggatactcttaaaggctt	6	7	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:179395192C>T	ENST00000591111.1	-	308	101451	c.101227G>A	c.(101227-101229)Gag>Aag	p.E33743K	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26511K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26444K|TTN_ENST00000460472.2_Missense_Mutation_p.E26319K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E35384K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32816K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33743					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATACCTTCTCATGGATACTC	0.368																																																	0													149	134	139					2																	179395192		1817	4074	5891	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101227G>A	2.37:g.179395192C>T	ENSP00000465570:p.Glu33743Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E32816K	ENST00000591111.1	37	c.98446		2	.	.	.	.	.	.	.	.	.	.	C	9.087	1.000853	0.19121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61040	0.14;0.29;0.27;0.26	5.23	3.41	0.39046	Ribonuclease H-like (1);	.	.	.	.	T	0.33673	0.0871	N	0.08118	0	0.26115	N	0.980621	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23940	-1.0174	9	0.87932	D	0	.	4.0937	0.09982	0.278:0.5227:0.1173:0.082	.	26319;26444;26511;33743	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32816;26319;26511;26444;26316	ENSP00000343764:E32816K;ENSP00000434586:E26319K;ENSP00000340554:E26511K;ENSP00000352154:E26444K	ENSP00000340554:E26511K	E	-	1	0	TTN	179103438	1.000000	0.71417	0.983000	0.44433	0.154000	0.21943	1.297000	0.33400	0.587000	0.29643	-0.305000	0.09177	GAG	TTN	-	superfamily_RNaseH-like_dom,smart_Ig_sub		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179395192	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.979	T	T	179395192	C	T	179395192	3	4	111	1	0	0	0	0	1	0	0	0	16766	835	29	1	1849	1	TTN	2	179395192	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	979609	179395192	63804181	40	16673										
TTN	7273	genome.wustl.edu	37	chr2	179395466	179395466	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tctttagaagcttctgctttCaggaactgagtaatctttgg	9	7	4	2	rs372521529	byFrequency	TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:179395466C>G	ENST00000591111.1	-	308	101177	c.100953G>C	c.(100951-100953)ctG>ctC	p.L33651L	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Silent_p.L26419L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.L26352L|TTN_ENST00000460472.2_Silent_p.L26227L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000589042.1_Silent_p.L35292L|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342992.6_Silent_p.L32724L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33651	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTGCTTTCAGGAACTGAG	0.463																																																	0													103	99	100					2																	179395466		1891	4108	5999	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100953G>C	2.37:g.179395466C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L32724	ENST00000591111.1	37	c.98172		2																																																																																			TTN	-	superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179395466	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.272	G	G	179395466	C	G	179395466	2	3	111	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179395466	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	274	179395466	63803907	41	16674										
TTN	7273	genome.wustl.edu	37	chr2	179585135	179585135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgaacttgacagagcaagaaCacgtgtcacttcccacctca	7	13	2	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:179585135C>T	ENST00000591111.1	-	78	22627	c.22403G>A	c.(22402-22404)tGt>tAt	p.C7468Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C7785Y|TTN_ENST00000342992.6_Missense_Mutation_p.C6541Y|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13023	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGCAAGAACACGTGTCACT	0.403																																																	0													146	138	141					2																	179585135		1902	4124	6026	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22403G>A	2.37:g.179585135C>T	ENSP00000465570:p.Cys7468Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.C6541Y	ENST00000591111.1	37	c.19622		2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793875	0.31777	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84656	0.5520	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.85926	0.1449	9	0.87932	D	0	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	7468	Q8WZ42	TITIN_HUMAN	Y	6541	ENSP00000343764:C6541Y	ENSP00000343764:C6541Y	C	-	2	0	TTN	179293380	1.000000	0.71417	0.822000	0.32727	0.956000	0.61745	3.851000	0.55926	2.791000	0.96007	0.650000	0.86243	TGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179585135	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T	T	179585135	C	T	179585135	3	4	111	1	0	0	0	0	1	0	0	0	16766	478	17	4	81307	4	TTN	2	179585135	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	189669	179585135	63614238	42	16675										
CCDC141	285025	genome.wustl.edu	37	chr2	179702250	179702250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgacaggctcttccacctcCatgtcagatggtgcaagagg	11	12	2	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:179702250C>T	ENST00000420890.2	-	23	3813	c.3696G>A	c.(3694-3696)atG>atA	p.M1232I	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.M657I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1232										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCCACCTCCATGTCAGATG	0.572																																																	0													63	62	62					2																	179702250		2203	4300	6503	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3696G>A	2.37:g.179702250C>T	ENSP00000395995:p.Met1232Ile		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M1232I	ENST00000420890.2	37	c.3696		2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390300	0.42410	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.47869	0.83;1.41;1.41	5.92	5.05	0.67936	.	0.520028	0.19480	N	0.113239	T	0.36082	0.0954	L	0.53249	1.67	0.30154	N	0.802772	B;P	0.38078	0.418;0.617	B;B	0.30029	0.075;0.11	T	0.51764	-0.8664	10	0.66056	D	0.02	-4.4643	4.9504	0.14011	0.0:0.5867:0.1545:0.2588	.	657;657	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	I	1232;676;657	ENSP00000395995:M1232I;ENSP00000344627:M676I;ENSP00000295723:M657I	ENSP00000295723:M657I	M	-	3	0	CCDC141	179410495	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	0.270000	0.18607	1.504000	0.48704	0.650000	0.86243	ATG	CCDC141	-	NULL		0.572	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		C	NM_173648		179702250	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179702250	C	T	179702250	3	4	111	1	0	0	0	0	1	0	0	0	2780	594	21	4	660	4	CCDC141	2	179702250	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	117115	179702250	63497123	43	16676										
DIS3L2	129563	genome.wustl.edu	37	chr2	233201339	233201339	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgaggactcaagcaccagctGagctccaccagccgcctgcc	10	18	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:233201339G>C	ENST00000409307.1	+	20	2657	c.2657G>C	c.(2656-2658)tGa>tCa	p.*886S	DIS3L2_ENST00000325385.7_Nonstop_Mutation_p.*886S|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCACCAGCTGAGCTCCACCA	0.637																																																	0													11	17	15					2																	233201339		2014	4163	6177	SO:0001578	stop_lost	129563			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2657G>C	2.37:g.233201339G>C	ENSP00000386799:p.*886Serext*?			Nonstop_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.*886S	ENST00000409307.1	37	c.2657	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702716	0.15172	.	.	ENSG00000144535	ENST00000325385;ENST00000409307	.	.	.	2.07	-0.32	0.12721	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4238	0.07402	0.0:0.2496:0.3935:0.3569	.	.	.	.	S	886	.	.	X	+	2	2	DIS3L2	232909583	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.182000	0.16900	-0.079000	0.12707	0.306000	0.20318	TGA	DIS3L2	-	NULL		0.637	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	G	NM_152383		233201339	1	no_errors	ENST00000325385	ensembl	human	known	70_37	nonstop	SNP	0.001	C	C	233201339	G	C	233201339	4	2	111	1	0	0	0	0	0	0	0	0	4547	1285	45	1	2735	1	DIS3L2	2	233201339	Nonstop_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	53499089	233201339	9998034	44	16677										
ESPNL	339768	genome.wustl.edu	37	chr2	239010706	239010706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gacccgggagggagcccggcCgctgcaccacgctgccgtca	15	17	1	0	rs372806468		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr2:239010706C>T	ENST00000343063.3	+	2	682	c.419C>T	c.(418-420)cCg>cTg	p.P140L	ESPNL_ENST00000409169.1_Missense_Mutation_p.P140L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	140										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGCCCGGCCGCTGCACCAC	0.706													C|||	1	0.000199681	0	0	5008	,	,		13280	0		0	False		,,,				2504	0.001																0								C	LEU/PRO	1,4357		0,1,2178	10	12	11		419	4.6	0.7	2		11	0,8530		0,0,4265	no	missense	ESPNL	NM_194312.2	98	0,1,6443	TT,TC,CC		0.0,0.0229,0.0078	probably-damaging	140/1006	239010706	1,12887	2179	4265	6444	SO:0001583	missense	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.419C>T	2.37:g.239010706C>T	ENSP00000339115:p.Pro140Leu		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P140L	ENST00000343063.3	37	c.419	CCDS2525.1	2	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555584	0.65425	2.29E-4	0.0	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.71698	-0.59;-0.59	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.095896	0.41194	U	0.000926	D	0.84938	0.5583	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87589	0.2489	10	0.72032	D	0.01	-35.8831	14.3981	0.67025	0.0:1.0:0.0:0.0	.	140	Q6ZVH7	ESPNL_HUMAN	L	140	ENSP00000339115:P140L;ENSP00000386577:P140L	ENSP00000339115:P140L	P	+	2	0	ESPNL	238675445	1.000000	0.71417	0.726000	0.30738	0.046000	0.14306	7.041000	0.76558	2.123000	0.65237	0.484000	0.47621	CCG	ESPNL	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.706	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2	C	NM_194312		239010706	1	no_errors	ENST00000343063	ensembl	human	known	70_37	missense	SNP	0.966	T	T	239010706	C	T	239010706	3	4	111	1	0	0	0	0	1	0	0	0	5267	652	23	2	425	2	ESPNL	2	239010706	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	5809367	239010706	4188667	45	16678										
CIDEC	63924	genome.wustl.edu	37	chr3	9911955	9911955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctctacagttgtgccatcttCctccagcaccaggaagaagg	9	13	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:9911955C>T	ENST00000336832.2	-	4	398	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CIDEC_ENST00000430427.1_Missense_Mutation_p.E97K|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Missense_Mutation_p.E13K|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.E13K	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	87	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GTGCCATCTTCCTCCAGCACC	0.557																																																	0													66	65	65					3																	9911955		2203	4300	6503	SO:0001583	missense	63924				CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.259G>A	3.37:g.9911955C>T	ENSP00000338642:p.Glu87Lys		C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	pfam_CAD,smart_CAD,pfscan_CAD	p.E87K	ENST00000336832.2	37	c.259	CCDS2587.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904194	0.92035	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	6.07	4.31	0.51392	Caspase-activated nuclease CIDE-N (3);	0.047005	0.85682	N	0.000000	T	0.72011	0.3408	M	0.89715	3.055	0.80722	D	1	B;D	0.89917	0.142;1.0	B;D	0.97110	0.214;1.0	T	0.76069	-0.3094	10	0.72032	D	0.01	-11.1065	11.0138	0.47677	0.0:0.8499:0.0:0.1501	.	87;97	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	K	87;13;13;97	ENSP00000338642:E87K;ENSP00000392975:E13K;ENSP00000400649:E13K;ENSP00000408631:E97K	ENSP00000338642:E87K	E	-	1	0	CIDEC	9886955	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.523000	0.60545	0.917000	0.36895	0.655000	0.94253	GAA	CIDEC	-	pfam_CAD,smart_CAD,pfscan_CAD		0.557	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CIDEC	HGNC	protein_coding	OTTHUMT00000250334.1	C	NM_022094		9911955	-1	no_errors	ENST00000336832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9911955	C	T	9911955	3	4	111	1	0	0	0	0	1	0	0	0	3432	864	30	1	469	1	CIDEC	3	9911955	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		9911955	188110475	46	16679										
RFTN1	23180	genome.wustl.edu	37	chr3	16419401	16419401	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgggctctgggctttggtttCtcccagccggagcactgcac	13	13	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:16419401C>T	ENST00000334133.4	-	5	922	c.650G>A	c.(649-651)aGa>aAa	p.R217K	RFTN1_ENST00000432519.1_Missense_Mutation_p.R181K	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	217					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCTTTGGTTTCTCCCAGCCGG	0.617																																																	0													60	63	62					3																	16419401		2203	4300	6503	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.650G>A	3.37:g.16419401C>T	ENSP00000334153:p.Arg217Lys		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.R217K	ENST00000334133.4	37	c.650	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	C	7.324	0.617646	0.14129	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.41758	1.52;1.54;0.99	4.95	-8.23	0.01033	.	3.212750	0.02737	N	0.115776	T	0.17789	0.0427	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.33214	-0.9877	10	0.02654	T	1	3.0368	5.985	0.19430	0.1492:0.317:0.447:0.0868	.	181;217	G3XAJ6;Q14699	.;RFTN1_HUMAN	K	181;217;217	ENSP00000403926:R181K;ENSP00000334153:R217K;ENSP00000403997:R217K	ENSP00000334153:R217K	R	-	2	0	RFTN1	16394405	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.604000	0.05667	-1.094000	0.03054	0.561000	0.74099	AGA	RFTN1	-	NULL		0.617	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	C	NM_015150		16419401	-1	no_errors	ENST00000334133	ensembl	human	known	70_37	missense	SNP	0.000	T	T	16419401	C	T	16419401	3	4	111	1	0	0	0	0	1	0	0	0	13288	913	32	1	1110	1	RFTN1	3	16419401	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	6507446	16419401	181603029	47	16680										
NBEAL2	23218	genome.wustl.edu	37	chr3	47030778	47030778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	atgcccaccaccccagggccGaggcacgcagttggagaatg	13	14	0	1	rs376604123		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:47030778G>A	ENST00000450053.3	+	5	559	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R127Q|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	127					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCCAGGGCCGAGGCACGCAG	0.642													A|||	1	0.000199681	8e-04	0	5008	,	,		17528	0		0	False		,,,				2504	0																0													35	44	41					3																	47030778		2124	4208	6332	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.380G>A	3.37:g.47030778G>A	ENSP00000415034:p.Arg127Gln		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R127Q	ENST00000450053.3	37	c.380	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	A	7.426	0.637661	0.14386	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.55760	0.52;0.5	4.07	-3.23	0.05109	.	.	.	.	.	T	0.31827	0.0809	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.15719	0.014;0.013	B;B	0.08055	0.001;0.003	T	0.28364	-1.0046	9	0.12430	T	0.62	.	11.9471	0.52934	0.5818:0.0:0.4182:0.0	.	120;127	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	Q	127;127;120	ENSP00000292309:R127Q;ENSP00000415034:R127Q	ENSP00000292309:R127Q	R	+	2	0	NBEAL2	47005782	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.049000	0.01405	-1.469000	0.01890	-1.799000	0.00621	CGA	NBEAL2	-	NULL		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47030778	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.000	A	A	47030778	G	A	47030778	3	1	111	1	0	0	0	0	1	0	0	0	10212	1058	37	1	398	1	NBEAL2	3	47030778	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	30611377	47030778	150991652	48	16681										
MAP4	4134	genome.wustl.edu	37	chr3	47896844	47896844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gactttcaatcttgacatctCctccacctggaaccacaaag	5	14	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:47896844C>T	ENST00000360240.6	-	17	3673	c.3155G>A	c.(3154-3156)gGa>gAa	p.G1052E	MAP4_ENST00000420772.2_Missense_Mutation_p.G745E|MAP4_ENST00000441748.2_Missense_Mutation_p.G166E|MAP4_ENST00000395734.3_Missense_Mutation_p.G1052E|MAP4_ENST00000426837.2_Missense_Mutation_p.G2197E|MAP4_ENST00000383737.4_Missense_Mutation_p.G711E|MAP4_ENST00000264724.11_Missense_Mutation_p.G787E	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1052					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTTGACATCTCCTCCACCTGG	0.517																																																	0													180	158	165					3																	47896844		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.3155G>A	3.37:g.47896844C>T	ENSP00000353375:p.Gly1052Glu		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.G1052E	ENST00000360240.6	37	c.3155	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557513	0.86231	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	4.9	4.9	0.64082	.	.	.	.	.	D	0.99889	0.9947	M	0.88979	2.995	0.47778	D	0.999511	D;D;D;D;D;D	0.89917	1.0;0.996;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.954;0.973;0.997;1.0;0.998	D	0.96093	0.9063	9	0.87932	D	0	-13.9246	15.3796	0.74645	0.0:1.0:0.0:0.0	.	745;1052;1052;787;711;2197	F8W9U4;P27816-6;P27816;E9PGM5;B9ZVR1;E7EVA0	.;.;MAP4_HUMAN;.;.;.	E	711;787;1052;2197;1052;745;380;166	ENSP00000373243:G711E;ENSP00000264724:G787E;ENSP00000379083:G1052E;ENSP00000407602:G2197E;ENSP00000353375:G1052E;ENSP00000409731:G745E;ENSP00000334770:G380E;ENSP00000415130:G166E	ENSP00000264724:G787E	G	-	2	0	MAP4	47871848	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.893000	0.75649	2.552000	0.86080	0.561000	0.74099	GGA	MAP4	-	pfam_Tau/MAP_tubulin-bd_rpt		0.517	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	C	NM_002375		47896844	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47896844	C	T	47896844	3	4	111	1	0	0	0	0	1	0	0	0	9281	855	30	1	466	1	MAP4	3	47896844	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	866066	47896844	150125586	49	16682										
SLC26A6	65010	genome.wustl.edu	37	chr3	48663652	48663652	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggccagaggtaggctcaccGaaacagggctgtcggggaca	16	10	1	1	rs374322645		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:48663652G>A	ENST00000395550.2	-	20	2311	c.2264C>T	c.(2263-2265)tCg>tTg	p.S755L	SLC26A6_ENST00000383733.3_Splice_Site_p.S736L|SLC26A6_ENST00000337000.8_Splice_Site_p.S647L|SLC26A6_ENST00000420764.2_Splice_Site_p.S754L|SLC26A6_ENST00000455886.2_Splice_Site_p.S719L|SLC26A6_ENST00000358747.6_Splice_Site_p.S734L			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	755					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TAGGCTCACCGAAACAGGGCT	0.562																																					NSCLC(13;369 479 28271 30152 44026)												0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,3993		0,1,1996	70	78	76		2207,2261,2264,2201	-0.4	0.3	3		76	0,8334		0,0,4167	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SLC26A6	NM_134426.2,NM_134263.2,NM_022911.2,NM_001040454.1	145,145,145,145	0,1,6163	AA,AG,GG		0.0,0.025,0.0081	benign,benign,benign,benign	736/741,754/759,755/760,734/739	48663652	1,12327	1997	4167	6164	SO:0001630	splice_region_variant	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.2265+1C>T	3.37:g.48663652G>A			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S755L	ENST00000395550.2	37	c.2264	CCDS43087.1	3	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514583	0.27123	2.5E-4	0.0	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.91894	-2.8;-2.8;-2.93;-2.8;-2.8;-2.92	5.74	-0.438	0.12268	.	.	.	.	.	T	0.78194	0.4245	N	0.01668	-0.77	0.09310	N	1	B;B;B;B;B;B;B	0.15473	0.007;0.0;0.013;0.001;0.001;0.001;0.0	B;B;B;B;B;B;B	0.10450	0.002;0.0;0.005;0.0;0.0;0.001;0.0	T	0.65421	-0.6172	9	0.39692	T	0.17	.	11.8204	0.52235	0.5234:0.0:0.4766:0.0	.	719;749;647;736;754;755;4141	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	L	754;755;736;647;749;734;719	ENSP00000404684:S754L;ENSP00000378920:S755L;ENSP00000373239:S736L;ENSP00000337648:S647L;ENSP00000351597:S734L;ENSP00000401066:S719L	ENSP00000337648:S647L	S	-	2	0	SLC26A6	48638656	0.000000	0.05858	0.276000	0.24689	0.687000	0.40016	0.068000	0.14531	-0.075000	0.12798	-0.469000	0.05056	TCG	SLC26A6	-	NULL		0.562	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC26A6	HGNC	protein_coding	OTTHUMT00000345040.1	G	NM_022911	Missense_Mutation	48663652	-1	no_errors	ENST00000395550	ensembl	human	known	70_37	missense	SNP	0.001	A	A	48663652	G	A	48663652	5	1	111	1	0	0	0	0	0	0	1	0	14551	1072	37	1	23	1	SLC26A6	3	48663652	Splice_Site	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	766808	48663652	149358778	50	16683										
TMEM115	11070	genome.wustl.edu	37	chr3	50395801	50395801	+	Frame_Shift_Del	DEL	G	G	-													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caaacccaccacaggctgcaGgatctcagggaagaaagtgg							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:50395801delG	ENST00000266025.3	-	1	1240	c.694delC	c.(694-696)ctgfs	p.L232fs	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	232					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACAGGCTGCAGGATCTCAGGG	0.577																																																	0													101	98	99					3																	50395801		2203	4300	6503	SO:0001589	frameshift_variant	11070			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.694delC	3.37:g.50395801delG	ENSP00000266025:p.Leu232fs		A2IDB7|O14568|Q6IAY4|Q9UIX3	Frame_Shift_Del	DEL	pfam_DUF1751_Mem_euk	p.L232fs	ENST00000266025.3	37	c.694	CCDS2828.1	3																																																																																			TMEM115	-	NULL		0.577	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	G	NM_007024		50395801	-1	no_errors	ENST00000266025	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	50395801	G	-	50395801	7	5	111	1	0	1	0	1	0	0	0	0	16059	991	35	0	369	0	TMEM115	3	50395801	Frame_Shift_Del	DEL	G	TCGA-EK-A2RK-01A-11D-A18J-09	1732149	50395801	147626629	51	16684										
RRP9	9136	genome.wustl.edu	37	chr3	51970552	51970552	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgaggaatcacatgcagcttCcgtccactctccacgctccc	7	18	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:51970552C>T	ENST00000232888.6	-	7	610	c.537G>A	c.(535-537)cgG>cgA	p.R179R		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	179					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CATGCAGCTTCCGTCCACTCT	0.642																																																	0													48	47	48					3																	51970552		2203	4300	6503	SO:0001819	synonymous_variant	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.537G>A	3.37:g.51970552C>T			B2R996|Q8IZ30	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R179	ENST00000232888.6	37	c.537	CCDS2837.1	3																																																																																			RRP9	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.642	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	C	NM_004704		51970552	-1	no_errors	ENST00000232888	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51970552	C	T	51970552	2	4	111	1	0	0	0	0	0	0	0	1	13721	842	30	1		1	RRP9	3	51970552	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1574751	51970552	146051878	52	16685										
DNAH1	25981	genome.wustl.edu	37	chr3	52402868	52402868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gccatctggattgagaacatGaacacggtgctggatgacaa	12	8	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:52402868G>A	ENST00000420323.2	+	37	6138	c.5877G>A	c.(5875-5877)atG>atA	p.M1959I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1959	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGAACATGAACACGGTGC	0.562																																																	0													128	134	132					3																	52402868		2129	4249	6378	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5877G>A	3.37:g.52402868G>A	ENSP00000401514:p.Met1959Ile		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.M1959I	ENST00000420323.2	37	c.5877	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.127831	0.94473	.	.	ENSG00000114841	ENST00000420323	T	0.36520	1.25	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000054	T	0.73938	0.3651	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83909	0.0294	10	0.87932	D	0	.	18.3341	0.90282	0.0:0.0:1.0:0.0	.	1959	C9JXH6	.	I	1959	ENSP00000401514:M1959I	ENSP00000401514:M1959I	M	+	3	0	DNAH1	52377908	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.538000	0.98072	2.567000	0.86603	0.563000	0.77884	ATG	DNAH1	-	pfam_ATPase_dyneun-rel_AAA		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52402868	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52402868	G	A	52402868	3	1	111	1	0	0	0	0	1	0	0	0	4607	1290	45	1	6019	1	DNAH1	3	52402868	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	432316	52402868	145619562	53	16686			1	70		3	3	1374	G		5.904737e-05
DNAH1	25981	genome.wustl.edu	37	chr3	52404213	52404213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgagcctcctcaagctgctgGactgcttcttcaagcccttt	8	14	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:52404213G>T	ENST00000420323.2	+	39	6487	c.6226G>T	c.(6226-6228)Gac>Tac	p.D2076Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2076					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGCTGCTGGACTGCTTCTT	0.572																																																	0													80	87	84					3																	52404213		2144	4253	6397	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6226G>T	3.37:g.52404213G>T	ENSP00000401514:p.Asp2076Tyr		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.D2076Y	ENST00000420323.2	37	c.6226	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056619	0.76074	.	.	ENSG00000114841	ENST00000420323	T	0.25912	1.77	4.53	4.53	0.55603	.	0.531623	0.16845	N	0.197163	T	0.41811	0.1175	M	0.87682	2.9	0.80722	D	1	P	0.41748	0.761	B	0.41646	0.362	T	0.56214	-0.8016	10	0.66056	D	0.02	.	17.4509	0.87592	0.0:0.0:1.0:0.0	.	2076	C9JXH6	.	Y	2076	ENSP00000401514:D2076Y	ENSP00000401514:D2076Y	D	+	1	0	DNAH1	52379253	1.000000	0.71417	0.959000	0.39883	0.940000	0.58332	8.465000	0.90383	2.361000	0.80049	0.491000	0.48974	GAC	DNAH1	-	NULL		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52404213	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52404213	G	T	52404213	3	4	111	1	0	0	0	0	1	0	0	0	4607	1174	41	3	6376	3	DNAH1	3	52404213	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	1345	52404213	145618217	54	16687			1	70		3	3	1374	G		5.904737e-05
DNAH1	25981	genome.wustl.edu	37	chr3	52404241	52404241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cttcaagccctttctgcctaGagaggtacagccctgagagt	10	12	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:52404241G>C	ENST00000420323.2	+	39	6515	c.6254G>C	c.(6253-6255)aGa>aCa	p.R2085T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2085					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTCTGCCTAGAGAGGTACAG	0.567																																																	0													67	70	69					3																	52404241		2115	4237	6352	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6254G>C	3.37:g.52404241G>C	ENSP00000401514:p.Arg2085Thr		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.R2085T	ENST00000420323.2	37	c.6254	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	6.626	0.483929	0.12581	.	.	ENSG00000114841	ENST00000420323	T	0.22539	1.95	4.53	-4.54	0.03452	.	1.139980	0.06556	N	0.745838	T	0.10937	0.0267	N	0.19112	0.55	0.19300	N	0.999979	B	0.06786	0.001	B	0.04013	0.001	T	0.39881	-0.9592	10	0.13108	T	0.6	.	8.5072	0.33195	0.6606:0.0:0.2085:0.1309	.	2085	C9JXH6	.	T	2085	ENSP00000401514:R2085T	ENSP00000401514:R2085T	R	+	2	0	DNAH1	52379281	0.010000	0.17322	0.046000	0.18839	0.975000	0.68041	-0.195000	0.09546	-0.826000	0.04284	0.491000	0.48974	AGA	DNAH1	-	NULL		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52404241	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.001	C	C	52404241	G	C	52404241	3	2	111	1	0	0	0	0	1	0	0	0	4607	942	33	1	6404	1	DNAH1	3	52404241	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	28	52404241	145618189	55	16688			1	70		3	3	1374	G		5.904737e-05
KTELC1	56983	genome.wustl.edu	37	chr3	119196263	119196263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctcaggttcctaaatggatgGagcctgccatcccagtcttc	9	13	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:119196263G>C	ENST00000295588.4	+	4	508	c.424G>C	c.(424-426)Gag>Cag	p.E142Q		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	142					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TAAATGGATGGAGCCTGCCAT	0.483																																																	0													154	139	144					3																	119196263		2203	4300	6503	SO:0001583	missense	56983			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.424G>C	3.37:g.119196263G>C	ENSP00000295588:p.Glu142Gln		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.E142Q	ENST00000295588.4	37	c.424	CCDS2988.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.183480|3.183480	0.57800|0.57800	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	T|.	0.22539|.	1.95|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.368675|.	0.26297|.	N|.	0.025187|.	T|T	0.36635|0.36635	0.0974|0.0974	N|N	0.04880|0.04880	-0.145|-0.145	0.43448|0.43448	D|D	0.995636|0.995636	B|.	0.09022|.	0.002|.	B|.	0.15484|.	0.013|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.16896|.	T|.	0.51|.	-17.0503|-17.0503	14.2547|14.2547	0.66043|0.66043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142|.	Q8NBL1|.	PGLT1_HUMAN|.	Q|A	142|128	ENSP00000295588:E142Q|.	ENSP00000295588:E142Q|.	E|G	+|+	1|2	0|0	POGLUT1|POGLUT1	120678953|120678953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.395000|2.395000	0.44459|0.44459	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	GAG|GGA	POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.483	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2	G	NM_152305		119196263	1	no_errors	ENST00000295588	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119196263	G	C	119196263	3	2	111	1	0	0	0	0	1	0	0	0	8603	1175	41	1	438	1	KTELC1	3	119196263	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	66792022	119196263	78826167	56	16689										
C3orf1	51300	genome.wustl.edu	37	chr3	119242575	119242575	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaaccttcctagaaacccttCagtaatagataaacaagaca	4	10	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:119242575C>T	ENST00000494664.1	+	7	1032	c.830C>T	c.(829-831)tCa>tTa	p.S277L	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.S143L	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	277						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGAAACCCTTCAGTAATAGAT	0.433																																																	0													123	128	126					3																	119242575		2203	4300	6503	SO:0001583	missense	51300			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.830C>T	3.37:g.119242575C>T	ENSP00000418803:p.Ser277Leu		D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.S277L	ENST00000494664.1	37	c.830	CCDS33831.1	3	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881157	0.72294	.	.	ENSG00000113845	ENST00000494664;ENST00000493694	T;T	0.49432	1.31;0.78	5.32	5.32	0.75619	.	0.616349	0.16127	N	0.228368	T	0.45756	0.1358	L	0.57536	1.79	0.34303	D	0.684573	P	0.34522	0.455	B	0.31686	0.134	T	0.61931	-0.6961	10	0.66056	D	0.02	-0.3022	14.3747	0.66865	0.0:1.0:0.0:0.0	.	277	Q9NPL8	TIDC1_HUMAN	L	277;143	ENSP00000418803:S277L;ENSP00000419510:S143L	ENSP00000419510:S143L	S	+	2	0	TIMMDC1	120725265	0.951000	0.32395	0.728000	0.30774	0.527000	0.34593	2.036000	0.41165	2.777000	0.95525	0.650000	0.86243	TCA	TIMMDC1	-	NULL		0.433	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMMDC1	HGNC	protein_coding	OTTHUMT00000355077.3	C	NM_016589		119242575	1	no_errors	ENST00000494664	ensembl	human	known	70_37	missense	SNP	0.881	T	T	119242575	C	T	119242575	3	4	111	1	0	0	0	0	1	0	0	0	2211	838	29	1	856	1	C3orf1	3	119242575	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	46312	119242575	78779855	57	16690										
TOPBP1	11073	genome.wustl.edu	37	chr3	133347256	133347256	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccatttagttcactctgcttCttactgagttttttactaac	4	10	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:133347256C>T	ENST00000260810.5	-	16	2885	c.2754G>A	c.(2752-2754)aaG>aaA	p.K918K		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	918	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CACTCTGCTTCTTACTGAGTT	0.388								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													120	114	116					3																	133347256		1886	4107	5993	SO:0001819	synonymous_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2754G>A	3.37:g.133347256C>T			B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.K918	ENST00000260810.5	37	c.2754	CCDS46919.1	3																																																																																			TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.388	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	C	NM_007027		133347256	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133347256	C	T	133347256	2	4	111	1	0	0	0	0	0	0	0	1	16400	912	32	1		1	TOPBP1	3	133347256	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	14104681	133347256	64675174	58	16691										
FAM194A	131831	genome.wustl.edu	37	chr3	150416593	150416593	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctcactcgattgcactttatCagacaaatcttggagccaac	6	12	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr3:150416593C>G	ENST00000295910.6	-	3	590	c.538G>C	c.(538-540)Gat>Cat	p.D180H	FAM194A_ENST00000491361.1_Missense_Mutation_p.D34H	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCACTTTATCAGACAAATCT	0.388																																																	0													166	164	165					3																	150416593		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.538G>C	3.37:g.150416593C>G	ENSP00000295910:p.Asp180His			Missense_Mutation	SNP	NULL	p.D180H	ENST00000295910.6	37	c.538	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	8.467	0.856553	0.17106	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811;ENST00000474463	T;T;T	0.48522	2.73;2.53;0.81	3.83	-7.08	0.01558	.	1.799730	0.03004	N	0.148594	T	0.34048	0.0884	N	0.22421	0.69	0.09310	N	1	B	0.21753	0.06	B	0.29353	0.101	T	0.34129	-0.9841	10	0.42905	T	0.14	2.8978	9.7564	0.40506	0.1297:0.7264:0.0:0.1439	.	180	Q7L0X2	F194A_HUMAN	H	180;34;138;154	ENSP00000295910:D180H;ENSP00000419366:D34H;ENSP00000419304:D154H	ENSP00000295910:D180H	D	-	1	0	FAM194A	151899283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.752000	0.01819	-1.818000	0.01218	-0.469000	0.05056	GAT	FAM194A	-	NULL		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	C			150416593	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.000	G	G	150416593	C	G	150416593	3	3	111	1	0	0	0	0	1	0	0	0	5541	826	29	1	1501	1	FAM194A	3	150416593	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	17069337	150416593	47605837	59	16692										
BOD1L	259282	genome.wustl.edu	37	chr4	13601904	13601904	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccttctcctccttgctggttGaggcaagaggactttcagct	10	12	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:13601904G>C	ENST00000040738.5	-	10	6755	c.6620C>G	c.(6619-6621)tCa>tGa	p.S2207*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2207						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTGCTGGTTGAGGCAAGAGG	0.507																																																	0													72	59	64					4																	13601904		2203	4300	6503	SO:0001587	stop_gained	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6620C>G	4.37:g.13601904G>C	ENSP00000040738:p.Ser2207*		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.S2207*	ENST00000040738.5	37	c.6620	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	47	13.287778	0.99732	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.11	5.11	0.69529	.	0.149633	0.31177	N	0.008104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.4868	12.995	0.58642	0.0:0.1622:0.8378:0.0	.	.	.	.	X	2207	.	ENSP00000040738:S2207X	S	-	2	0	BOD1L	13211002	0.999000	0.42202	0.979000	0.43373	0.528000	0.34623	3.372000	0.52387	2.389000	0.81357	0.555000	0.69702	TCA	BOD1L1	-	NULL		0.507	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	G	NM_148894		13601904	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	nonsense	SNP	0.829	C	C	13601904	G	C	13601904	4	2	111	1	0	0	0	0	0	1	0	0	1484	1294	45	1	2603	1	BOD1L	4	13601904	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		13601904	177552372	60	16693										
CCKAR	886	genome.wustl.edu	37	chr4	26491813	26491813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gctgatccaagcagaaaagcGtctcattttcgagcccgagt	10	11	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:26491813G>A	ENST00000295589.3	-	1	271	c.77C>T	c.(76-78)aCg>aTg	p.T26M		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	26					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCAGAAAAGCGTCTCATTTTC	0.478																																																	0													117	98	105					4																	26491813		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.77C>T	4.37:g.26491813G>A	ENSP00000295589:p.Thr26Met		B2R9Z5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.T26M	ENST00000295589.3	37	c.77	CCDS3438.1	4	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905855	0.72868	.	.	ENSG00000163394	ENST00000295589	T	0.40476	1.03	5.27	5.27	0.74061	Cholecystokinin A receptor, N-terminal (2);	0.083505	0.50627	D	0.000118	T	0.61924	0.2386	M	0.65975	2.015	0.43207	D	0.995065	D	0.89917	1.0	D	0.68765	0.96	T	0.62483	-0.6845	10	0.49607	T	0.09	.	16.0815	0.81007	0.0:0.0:1.0:0.0	.	26	P32238	CCKAR_HUMAN	M	26	ENSP00000295589:T26M	ENSP00000295589:T26M	T	-	2	0	CCKAR	26100911	1.000000	0.71417	0.958000	0.39756	0.970000	0.65996	5.851000	0.69481	2.477000	0.83638	0.655000	0.94253	ACG	CCKAR	-	pfam_CholecystokininA_recpt_N,prints_Cholcy_rcpt_A		0.478	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	HGNC	protein_coding	OTTHUMT00000250418.2	G			26491813	-1	no_errors	ENST00000295589	ensembl	human	known	70_37	missense	SNP	0.995	A	A	26491813	G	A	26491813	3	1	111	1	0	0	0	0	1	0	0	0	2885	1145	40	2	1229	2	CCKAR	4	26491813	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	12889909	26491813	164662463	61	16694										
FRYL	285527	genome.wustl.edu	37	chr4	48592790	48592790	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tggcatgggtggttcaccatCtttctgctgcaaactgtctg	11	10	4	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:48592790C>G	ENST00000503238.1	-	14	1392	c.1393G>C	c.(1393-1395)Gat>Cat	p.D465H	FRYL_ENST00000507711.1_Missense_Mutation_p.D465H|FRYL_ENST00000358350.4_Missense_Mutation_p.D465H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.D171H|FRYL_ENST00000537810.1_Missense_Mutation_p.D465H			O94915	FRYL_HUMAN	FRY-like	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGTTCACCATCTTTCTGCTGC	0.373																																																	0													143	132	136					4																	48592790		1867	4110	5977	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1393G>C	4.37:g.48592790C>G	ENSP00000426064:p.Asp465His		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D465H	ENST00000503238.1	37	c.1393	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667258	0.67814	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.50001	1.72;1.72;1.72;0.76	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.69869	0.3159	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77004	0.975;0.989	T	0.71517	-0.4569	10	0.66056	D	0.02	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	465;465	F2Z2S2;O94915	.;FRYL_HUMAN	H	465;465;465;465;171	ENSP00000426064:D465H;ENSP00000351113:D465H;ENSP00000441114:D465H;ENSP00000421584:D465H	ENSP00000351113:D465H	D	-	1	0	FRYL	48287547	1.000000	0.71417	0.991000	0.47740	0.270000	0.26580	7.776000	0.85560	2.629000	0.89072	0.655000	0.94253	GAT	FRYL	-	superfamily_ARM-type_fold		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	C			48592790	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48592790	C	G	48592790	3	3	111	1	0	0	0	0	1	0	0	0	6082	913	32	1	7840	1	FRYL	4	48592790	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	22100977	48592790	142561486	62	16695										
MTHFD2L	441024	genome.wustl.edu	37	chr4	75147263	75147263	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttagttggagatgtggacttCgaaggtaataaaccaatatc	10	5	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:75147263C>T	ENST00000395759.2	+	7	954	c.927C>T	c.(925-927)ttC>ttT	p.F309F	MTHFD2L_ENST00000325278.6_Silent_p.F251F	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	309					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATGTGGACTTCGAAGGTAATA	0.338																																																	0													101	101	101					4																	75147263		2203	4300	6503	SO:0001819	synonymous_variant	441024			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.927C>T	4.37:g.75147263C>T			Q6P079|Q8N560	Silent	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.F309	ENST00000395759.2	37	c.927	CCDS47075.1	4																																																																																			MTHFD2L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase		0.338	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		C	NM_001004346		75147263	1	no_errors	ENST00000395759	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75147263	C	T	75147263	2	4	111	1	0	0	0	0	0	0	0	1	9953	883	31	1		1	MTHFD2L	4	75147263	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	26554473	75147263	116007013	63	16696										
C4orf21	55345	genome.wustl.edu	37	chr4	113538928	113538928	+	Frame_Shift_Del	DEL	T	T	-													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aagaattggaaatgtgggtaTttgatttatcaagtgcaata							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:113538928delT	ENST00000505019.1	-	6	2395	c.2270delA	c.(2269-2271)aatfs	p.N757fs	C4orf21_ENST00000309071.5_Frame_Shift_Del_p.N757fs|C4orf21_ENST00000445203.2_Frame_Shift_Del_p.N726fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		757						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		AATGTGGGTATTTGATTTATC	0.348																																																	0													89	93	92					4																	113538928		2203	4300	6503	SO:0001589	frameshift_variant	55345																														ENST00000505019.1:c.2270delA	4.37:g.113538928delT	ENSP00000424737:p.Asn757fs		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Del	DEL	pfam_DUF2439,pfam_Znf_GRF	p.N757fs	ENST00000505019.1	37	c.2270		4																																																																																			C4orf21	-	NULL		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	T			113538928	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	113538928	T	-	113538928	7	5	111	1	0	1	0	1	0	0	0	0	2259	1493	52	0	4136	0	C4orf21	4	113538928	Frame_Shift_Del	DEL	T	TCGA-EK-A2RK-01A-11D-A18J-09	38391665	113538928	77615348	64	16697										
NDST4	64579	genome.wustl.edu	37	chr4	115898403	115898403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaaatttgcaacctgagtgcGcagtaaattttgagtctcta	8	7	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:115898403G>A	ENST00000264363.2	-	3	1684	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	336	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACCTGAGTGCGCAGTAAATTT	0.343																																																	0													74	77	76					4																	115898403		2203	4300	6503	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1006C>T	4.37:g.115898403G>A	ENSP00000264363:p.Arg336Cys		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R336C	ENST00000264363.2	37	c.1006	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986208	0.93044	.	.	ENSG00000138653	ENST00000264363	T	0.44881	0.91	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.77517	-0.2558	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	336	Q9H3R1	NDST4_HUMAN	C	336	ENSP00000264363:R336C	ENSP00000264363:R336C	R	-	1	0	NDST4	116117852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.985000	0.88162	2.783000	0.95769	0.655000	0.94253	CGC	NDST4	-	pfam_Heparan_SO4_deacetylase		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	G	NM_022569		115898403	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115898403	G	A	115898403	3	1	111	1	0	0	0	0	1	0	0	0	10282	1087	38	2	1660	2	NDST4	4	115898403	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2359475	115898403	75255873	65	16698										
SEC24D	9871	genome.wustl.edu	37	chr4	119653979	119653979	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggtatgctcgttcatcagttGagatctctggtctgctgagt	12	8	4	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr4:119653979G>C	ENST00000280551.6	-	20	2823	c.2585C>G	c.(2584-2586)tCa>tGa	p.S862*	SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Nonsense_Mutation_p.S493*|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000379735.5_Nonsense_Mutation_p.S863*			O94855	SC24D_HUMAN	SEC24 family member D	862					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTCATCAGTTGAGATCTCTGG	0.438																																																	0													195	161	173					4																	119653979		2203	4300	6503	SO:0001587	stop_gained	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2585C>G	4.37:g.119653979G>C	ENSP00000280551:p.Ser862*		Q8IYI7	Nonsense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.S863*	ENST00000280551.6	37	c.2588	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	G	43	10.513971	0.99419	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	.	.	.	5.62	5.62	0.85841	.	0.188343	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.4101	19.6571	0.95847	0.0:0.0:1.0:0.0	.	.	.	.	X	862;863;493	.	ENSP00000280551:S862X	S	-	2	0	SEC24D	119873427	1.000000	0.71417	0.651000	0.29564	0.921000	0.55340	9.467000	0.97671	2.643000	0.89663	0.591000	0.81541	TCA	SEC24D	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom		0.438	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	G			119653979	-1	no_errors	ENST00000379735	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	119653979	G	C	119653979	4	2	111	1	0	0	0	0	0	1	0	0	14027	1294	45	1	529	1	SEC24D	4	119653979	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3755576	119653979	71500297	66	16699										
TNFAIP8	25816	genome.wustl.edu	37	chr5	118728573	118728573	+	Frame_Shift_Del	DEL	A	A	-													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cacaaaagaagatcttgggtAaaatggtgtccaaatccatc							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr5:118728573delA	ENST00000503646.1	+	3	782	c.94delA	c.(94-96)aaafs	p.K32fs	TNFAIP8_ENST00000513374.1_Frame_Shift_Del_p.K44fs|TNFAIP8_ENST00000504771.2_Frame_Shift_Del_p.K32fs|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000504642.1_Frame_Shift_Del_p.K34fs|TNFAIP8_ENST00000274456.6_Frame_Shift_Del_p.K22fs			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	32					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GATCTTGGGTAAAATGGTGTC	0.413																																																	0													37	32	33					5																	118728573		1910	4128	6038	SO:0001589	frameshift_variant	25816			AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.94delA	5.37:g.118728573delA	ENSP00000421848:p.Lys32fs		B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Frame_Shift_Del	DEL	pfam_DUF758	p.M33fs	ENST00000503646.1	37	c.94	CCDS47258.1	5																																																																																			TNFAIP8	-	pfam_DUF758		0.413	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	TNFAIP8	HGNC	protein_coding	OTTHUMT00000371134.2	A	NM_014350		118728573	1	no_errors	ENST00000504771	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	118728573	A	-	118728573	7	5	111	1	0	1	0	1	0	0	0	0	16306	363	13	0	105	0	TNFAIP8	5	118728573	Frame_Shift_Del	DEL	A	TCGA-EK-A2RK-01A-11D-A18J-09		118728573	62186687	67	16700										
PCDHAC1	56135	genome.wustl.edu	37	chr5	140308552	140308552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aattgccttggcttgtatttCctttttatttctggggtgct	9	7	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr5:140308552C>G	ENST00000253807.2	+	1	2075	c.2075C>G	c.(2074-2076)tCc>tGc	p.S692C	PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S692C|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	692					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTATTTCCTTTTTATTT	0.483																																																	0													120	116	117					5																	140308552		2203	4300	6503	SO:0001583	missense	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2075C>G	5.37:g.140308552C>G	ENSP00000253807:p.Ser692Cys		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S692C	ENST00000253807.2	37	c.2075	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435451	0.62955	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38887	1.11;1.11	5.95	5.07	0.68467	.	.	.	.	.	T	0.61702	0.2368	L	0.56199	1.76	0.35272	D	0.780523	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73477	-0.3970	9	0.87932	D	0	.	17.3487	0.87316	0.0:0.8752:0.1248:0.0	.	692;692	Q9H158;Q9H158-2	PCDC1_HUMAN;.	C	692	ENSP00000386356:S692C;ENSP00000253807:S692C	ENSP00000253807:S692C	S	+	2	0	PCDHAC1	140288736	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	3.442000	0.52900	1.489000	0.48450	0.563000	0.77884	TCC	PCDHAC1	-	NULL		0.483	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	C	NM_018898		140308552	1	no_errors	ENST00000253807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140308552	C	G	140308552	3	3	111	1	0	0	0	0	1	0	0	0	11556	855	30	1	2077	1	PCDHAC1	5	140308552	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	21579979	140308552	40606708	68	16701										
PCDHGA4	56111	genome.wustl.edu	37	chr5	140736303	140736303	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tccatcaactccaatacaggGatcctatatgctctttgctc	5	13	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr5:140736303G>A	ENST00000571252.1	+	1	1536	c.1536G>A	c.(1534-1536)ggG>ggA	p.G512G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACAGGGATCCTATATG	0.527																																																	0													132	139	137					5																	140736303		2107	4262	6369	SO:0001819	synonymous_variant	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1536G>A	5.37:g.140736303G>A			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G512	ENST00000571252.1	37	c.1536	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.527	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	G	NM_018917		140736303	1	no_errors	ENST00000571252	ensembl	human	known	70_37	silent	SNP	0.073	A	A	140736303	G	A	140736303	2	1	111	1	0	0	0	0	0	0	0	1	11580	1161	41	1		1	PCDHGA4	5	140736303	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	427751	140736303	40178957	69	16702										
POU4F3	5459	genome.wustl.edu	37	chr5	145719265	145719265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgtgccctgcacgtccacttCgtccaccgtgcccatctccc	7	21	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr5:145719265C>T	ENST00000230732.4	+	2	364	c.275C>T	c.(274-276)tCg>tTg	p.S92L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	92					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGTCCACTTCGTCCACCGTG	0.657																																																	0													145	126	132					5																	145719265		2203	4300	6503	SO:0001583	missense	5459			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.275C>T	5.37:g.145719265C>T	ENSP00000230732:p.Ser92Leu		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S92L	ENST00000230732.4	37	c.275	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639859	0.47153	.	.	ENSG00000091010	ENST00000230732	T	0.23147	1.92	4.63	4.63	0.57726	.	0.415120	0.21756	N	0.069590	T	0.23289	0.0563	M	0.75447	2.3	0.58432	D	0.999998	P	0.49862	0.929	B	0.30943	0.122	T	0.16070	-1.0415	10	0.31617	T	0.26	.	12.8312	0.57746	0.0:0.8342:0.1658:0.0	.	92	Q15319	PO4F3_HUMAN	L	92	ENSP00000230732:S92L	ENSP00000230732:S92L	S	+	2	0	POU4F3	145699458	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.338000	0.79269	2.391000	0.81399	0.462000	0.41574	TCG	POU4F3	-	NULL		0.657	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	C	NM_002700		145719265	1	no_errors	ENST00000230732	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145719265	C	T	145719265	3	4	111	1	0	0	0	0	1	0	0	0	12304	893	31	1	281	1	POU4F3	5	145719265	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4982962	145719265	35195995	70	16703										
MAML1	9794	genome.wustl.edu	37	chr5	179193509	179193509	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agccaccgagtaacttgaatCagaactccgcgaataaccag	8	12	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr5:179193509C>G	ENST00000292599.3	+	2	1761	c.1498C>G	c.(1498-1500)Cag>Gag	p.Q500E	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAACTTGAATCAGAACTCCGC	0.572																																																	0													71	62	65					5																	179193509		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1498C>G	5.37:g.179193509C>G	ENSP00000292599:p.Gln500Glu			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q500E	ENST00000292599.3	37	c.1498	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957154	0.18507	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.23147	1.92	5.15	5.15	0.70609	.	0.262046	0.33591	N	0.004746	T	0.36166	0.0957	M	0.76838	2.35	0.35316	D	0.784321	P;P	0.44776	0.843;0.659	P;B	0.45406	0.479;0.142	T	0.51293	-0.8724	10	0.31617	T	0.26	-6.87	13.5685	0.61832	0.1557:0.8443:0.0:0.0	.	537;500	Q59GH4;Q92585	.;MAML1_HUMAN	E	500;537	ENSP00000292599:Q500E	ENSP00000292599:Q500E	Q	+	1	0	MAML1	179126115	1.000000	0.71417	0.984000	0.44739	0.027000	0.11550	4.005000	0.57075	2.386000	0.81285	0.563000	0.77884	CAG	MAML1	-	NULL		0.572	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179193509	1	no_errors	ENST00000292599	ensembl	human	known	70_37	missense	SNP	0.997	G	G	179193509	C	G	179193509	3	3	111	1	0	0	0	0	1	0	0	0	9228	827	29	1	1504	1	MAML1	5	179193509	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	33474244	179193509	1721751	71	16704										
GCM2	9247	genome.wustl.edu	37	chr6	10874955	10874955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtggcctaggcaaatagattCttgggcttgagtatttctgg	13	6	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:10874955C>T	ENST00000379491.4	-	5	941	c.794G>A	c.(793-795)aGa>aAa	p.R265K	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	265					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CAAATAGATTCTTGGGCTTGA	0.453																																																	0													173	168	170					6																	10874955		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.794G>A	6.37:g.10874955C>T	ENSP00000368805:p.Arg265Lys		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R265K	ENST00000379491.4	37	c.794	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806368	0.50421	.	.	ENSG00000124827	ENST00000379491	T	0.69926	-0.44	5.5	4.64	0.57946	.	0.172925	0.64402	D	0.000015	T	0.50000	0.1590	M	0.76170	2.325	0.80722	D	1	B	0.34015	0.435	B	0.30401	0.115	T	0.55108	-0.8192	10	0.34782	T	0.22	-7.5825	11.6737	0.51417	0.0:0.8574:0.0:0.1426	.	265	O75603	GCM2_HUMAN	K	265	ENSP00000368805:R265K	ENSP00000368805:R265K	R	-	2	0	GCM2	10982941	0.952000	0.32445	0.999000	0.59377	0.667000	0.39255	2.240000	0.43088	1.465000	0.48006	-0.142000	0.14014	AGA	GCM2	-	NULL		0.453	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	C			10874955	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	0.998	T	T	10874955	C	T	10874955	3	4	111	1	0	0	0	0	1	0	0	0	6317	913	32	1	730	1	GCM2	6	10874955	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		10874955	160240112	72	16705										
HIVEP1	3096	genome.wustl.edu	37	chr6	12164662	12164662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tcagcgacgtgagcagcgatGatgacgaggacaggcttgtg	16	8	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:12164662G>A	ENST00000379388.2	+	9	8457	c.8125G>A	c.(8125-8127)Gat>Aat	p.D2709N	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D574N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2709					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGCAGCGATGATGACGAGGA	0.478																																																	0													41	45	44					6																	12164662		2178	4281	6459	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8125G>A	6.37:g.12164662G>A	ENSP00000368698:p.Asp2709Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D2709N	ENST00000379388.2	37	c.8125	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241582	0.79912	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.44482	2.43;0.92	5.71	5.71	0.89125	.	0.439400	0.16839	N	0.197412	T	0.51719	0.1691	M	0.66939	2.045	0.80722	D	1	D	0.61697	0.99	P	0.54401	0.751	T	0.55444	-0.8140	10	0.87932	D	0	-12.601	19.8498	0.96734	0.0:0.0:1.0:0.0	.	2709	P15822	ZEP1_HUMAN	N	2709;574;691	ENSP00000368698:D2709N;ENSP00000445617:D574N	ENSP00000368698:D2709N	D	+	1	0	HIVEP1	12272648	1.000000	0.71417	0.683000	0.30040	0.431000	0.31685	9.189000	0.94928	2.704000	0.92352	0.591000	0.81541	GAT	HIVEP1	-	NULL		0.478	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12164662	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12164662	G	A	12164662	3	1	111	1	0	0	0	0	1	0	0	0	7206	1290	45	1	8155	1	HIVEP1	6	12164662	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	1289707	12164662	158950405	73	16706										
MDC1	9656	genome.wustl.edu	37	chr6	30680935	30680935	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cctctccttcactaaaggctGatccttttcaagctggattt	6	12	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:30680935G>A	ENST00000376406.3	-	5	1431	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.Q262*|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	262	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTAAAGGCTGATCCTTTTCA	0.527								Other conserved DNA damage response genes																																									0													127	121	123					6																	30680935		1511	2708	4219	SO:0001587	stop_gained	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.784C>T	6.37:g.30680935G>A	ENSP00000365588:p.Gln262*		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.Q262*	ENST00000376406.3	37	c.784	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.446892	0.96205	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.0026	14.599	0.68427	0.0:0.0:1.0:0.0	.	.	.	.	X	262;262;262;134	.	ENSP00000365587:Q262X	Q	-	1	0	MDC1	30788914	0.091000	0.21658	0.020000	0.16555	0.287000	0.27160	3.342000	0.52159	2.825000	0.97269	0.655000	0.94253	CAG	MDC1	-	NULL		0.527	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30680935	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	nonsense	SNP	0.017	A	A	30680935	G	A	30680935	4	1	111	1	0	0	0	0	0	1	0	0	9426	1299	45	1	5529	1	MDC1	6	30680935	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	18516273	30680935	140434132	74	16707										
BAT2	7916	genome.wustl.edu	37	chr6	31595578	31595578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cctgcaagcccccagcacctGaagatgaggatgaggcatgg	13	12	0	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:31595578G>A	ENST00000376033.2	+	12	1561	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E443K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	443	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAGCACCTGAAGATGAGGA	0.587																																																	0													47	54	51					6																	31595578		1509	2709	4218	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1327G>A	6.37:g.31595578G>A	ENSP00000365201:p.Glu443Lys		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E443K	ENST00000376033.2	37	c.1327	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435242	0.43224	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.11930	2.73;2.73	4.38	4.38	0.52667	.	0.000000	0.49916	D	0.000127	T	0.19005	0.0456	L	0.60455	1.87	0.50467	D	0.999878	D	0.55172	0.97	P	0.54815	0.761	T	0.00893	-1.1524	10	0.87932	D	0	-11.3809	16.2187	0.82244	0.0:0.0:1.0:0.0	.	443	P48634	PRC2A_HUMAN	K	443;432;443;443	ENSP00000365175:E443K;ENSP00000365201:E443K	ENSP00000365175:E443K	E	+	1	0	PRRC2A	31703557	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	7.093000	0.76937	2.453000	0.82957	0.561000	0.74099	GAA	PRRC2A	-	NULL		0.587	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31595578	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	0.999	A	A	31595578	G	A	31595578	3	1	111	1	0	0	0	0	1	0	0	0	1320	1291	45	1	1369	1	BAT2	6	31595578	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	914643	31595578	139519489	75	16708										
BAT2	7916	genome.wustl.edu	37	chr6	31595770	31595770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgacaagcggctcaaagcaGagcctgctgccccacctgct	10	16	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:31595770G>C	ENST00000376033.2	+	12	1753	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E507Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	507	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTCAAAGCAGAGCCTGCTGC	0.622																																																	0													118	115	116					6																	31595770		1511	2709	4220	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1519G>C	6.37:g.31595770G>C	ENSP00000365201:p.Glu507Gln		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E507Q	ENST00000376033.2	37	c.1519	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843298	0.32606	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.06608	3.28;3.28	4.62	4.62	0.57501	.	0.000000	0.52532	D	0.000072	T	0.05686	0.0149	L	0.40543	1.245	0.34903	D	0.746678	D	0.53885	0.963	P	0.47573	0.55	T	0.13335	-1.0513	10	0.87932	D	0	-16.5102	16.7445	0.85468	0.0:0.0:1.0:0.0	.	507	P48634	PRC2A_HUMAN	Q	507;496;507;507	ENSP00000365175:E507Q;ENSP00000365201:E507Q	ENSP00000365175:E507Q	E	+	1	0	PRRC2A	31703749	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	2.668000	0.46816	2.569000	0.86673	0.561000	0.74099	GAG	PRRC2A	-	NULL		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31595770	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31595770	G	C	31595770	3	2	111	1	0	0	0	0	1	0	0	0	1320	943	33	1	1561	1	BAT2	6	31595770	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	192	31595770	139519297	76	16709										
CYP21A2	1589	genome.wustl.edu	37	chr6	32008517	32008517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggcgcccacctggatgagacGgtctgggagaggccacatga	16	11	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:32008517G>A	ENST00000418967.2	+	9	1349	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	CYP21A2_ENST00000435122.2_Silent_p.T367T	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	396					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TGGATGAGACGGTCTGGGAGA	0.642																																					Melanoma(174;1669 1998 3915 34700 46447)												0													9	12	10					6																	32008517		1362	2486	3848	SO:0001819	synonymous_variant	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1191G>A	6.37:g.32008517G>A			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.T397	ENST00000418967.2	37	c.1191	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B		0.642	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	G	NM_000500		32008517	1	no_errors	ENST00000418967	ensembl	human	known	70_37	silent	SNP	0.000	A	A	32008517	G	A	32008517	2	1	111	1	0	0	0	0	0	0	0	1	4158	1103	39	2		2	CYP21A2	6	32008517	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	412747	32008517	139106550	77	16710										
PHF1	5252	genome.wustl.edu	37	chr6	33383743	33383743	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgccgtagtttgtctcctggGactgggggaggagtccgagg	18	8	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:33383743G>T	ENST00000374516.3	+	15	1843	c.1572G>T	c.(1570-1572)ggG>ggT	p.G524G	PHF1_ENST00000374512.3_3'UTR|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	524					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGTCTCCTGGGACTGGGGGAG	0.612																																																	0													85	84	85					6																	33383743		2203	4300	6503	SO:0001819	synonymous_variant	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1572G>T	6.37:g.33383743G>T			B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G524	ENST00000374516.3	37	c.1572	CCDS4777.1	6																																																																																			PHF1	-	NULL		0.612	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3	G			33383743	1	no_errors	ENST00000374516	ensembl	human	known	70_37	silent	SNP	0.999	T	T	33383743	G	T	33383743	2	4	111	1	0	0	0	0	0	0	0	1	11844	1161	41	3		3	PHF1	6	33383743	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	1375226	33383743	137731324	78	16711										
STK38	11329	genome.wustl.edu	37	chr6	36483145	36483145	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaaagaaggttgtctggtttGatgtctctgtggatgaatcc	12	5	2	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:36483145G>C	ENST00000229812.7	-	7	924	c.639C>G	c.(637-639)atC>atG	p.I213M		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCTGGTTTGATGTCTCTGT	0.433																																					Colon(180;997 3561 16158)												0													242	205	218					6																	36483145		2203	4300	6503	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.639C>G	6.37:g.36483145G>C	ENSP00000229812:p.Ile213Met			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.I213M	ENST00000229812.7	37	c.639	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832040	0.71258	.	.	ENSG00000112079	ENST00000229812	T	0.53640	0.61	5.78	4.9	0.64082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	M	0.78637	2.42	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.64689	-0.6348	10	0.87932	D	0	.	8.8842	0.35394	0.0681:0.0:0.6641:0.2678	.	213	Q15208	STK38_HUMAN	M	213	ENSP00000229812:I213M	ENSP00000229812:I213M	I	-	3	3	STK38	36591123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.438000	0.52871	1.415000	0.47037	0.655000	0.94253	ATC	STK38	-	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		0.433	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	G	NM_007271		36483145	-1	no_errors	ENST00000229812	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36483145	G	C	36483145	3	2	111	1	0	0	0	0	1	0	0	0	15333	1280	45	1	790	1	STK38	6	36483145	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3099402	36483145	134631922	79	16712										
NFYA	4800	genome.wustl.edu	37	chr6	41060767	41060767	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caataccaccgtattcttaaGaggaggcaagcccgagctaa	9	11	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:41060767G>C	ENST00000341376.6	+	8	1032	c.831G>C	c.(829-831)aaG>aaC	p.K277N	NFYA_ENST00000353205.5_Missense_Mutation_p.K248N|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	277					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTATTCTTAAGAGGAGGCAAG	0.463																																																	0													97	92	94					6																	41060767		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.831G>C	6.37:g.41060767G>C	ENSP00000345702:p.Lys277Asn		Q8IXU0	Missense_Mutation	SNP	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.K277N	ENST00000341376.6	37	c.831	CCDS4849.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405608	0.83230	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.88	3.13	0.36017	CCAAT-binding factor, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	M	0.89785	3.06	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.982;0.998	T	0.79841	-0.1633	9	0.87932	D	0	-19.2774	10.561	0.45146	0.2102:0.0:0.7898:0.0	.	248;277	P23511-2;P23511	.;NFYA_HUMAN	N	277;248	.	ENSP00000345702:K277N	K	+	3	2	NFYA	41168745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.856000	0.62932	0.836000	0.34901	0.655000	0.94253	AAG	NFYA	-	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB		0.463	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1	G			41060767	1	no_errors	ENST00000341376	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41060767	G	C	41060767	3	2	111	1	0	0	0	0	1	0	0	0	10413	933	33	1	857	1	NFYA	6	41060767	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4577622	41060767	130054300	80	16713										
TRERF1	55809	genome.wustl.edu	37	chr6	42232541	42232541	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttcaggcagatggagcatgtCagcttgttcttggcatcaaa	11	8	4	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:42232541C>G	ENST00000372922.4	-	7	2098	c.1536G>C	c.(1534-1536)ctG>ctC	p.L512L	TRERF1_ENST00000340840.2_Silent_p.L512L|TRERF1_ENST00000354325.2_Silent_p.L512L|TRERF1_ENST00000372917.4_Silent_p.L512L|TRERF1_ENST00000541110.1_Silent_p.L512L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	512	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGAGCATGTCAGCTTGTTCT	0.562																																																	0													141	120	127					6																	42232541		2203	4300	6503	SO:0001819	synonymous_variant	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1536G>C	6.37:g.42232541C>G			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.L512	ENST00000372922.4	37	c.1536	CCDS4867.1	6																																																																																			TRERF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	C	NM_033502		42232541	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	silent	SNP	1.000	G	G	42232541	C	G	42232541	2	3	111	1	0	0	0	0	0	0	0	1	16506	813	29	1		1	TRERF1	6	42232541	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1171774	42232541	128882526	81	16714										
PEX6	5190	genome.wustl.edu	37	chr6	42935173	42935173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gaaggtgggcagtgagggccCgcaggatgctgagccgctgc	19	10	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:42935173C>T	ENST00000304611.8	-	8	1886	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	PEX6_ENST00000244546.4_Missense_Mutation_p.R606Q	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	606					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGTGAGGGCCCGCAGGATGCT	0.632																																																	0													32	29	30					6																	42935173		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1817G>A	6.37:g.42935173C>T	ENSP00000303511:p.Arg606Gln		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R606Q	ENST00000304611.8	37	c.1817	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	C	9.992	1.231043	0.22626	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.78816	-1.21;-1.21	5.48	-8.58	0.00897	.	1.373150	0.03800	N	0.264227	T	0.24431	0.0592	N	0.02345	-0.59	0.20975	N	0.999816	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.02654	T	1	-1.4502	17.532	0.87817	0.0:0.2375:0.0:0.7625	.	606	Q13608	PEX6_HUMAN	Q	606	ENSP00000303511:R606Q;ENSP00000244546:R606Q	ENSP00000244546:R606Q	R	-	2	0	PEX6	43043151	0.000000	0.05858	0.659000	0.29680	0.963000	0.63663	-1.684000	0.01932	-1.797000	0.01252	-0.254000	0.11334	CGG	PEX6	-	NULL		0.632	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	C	NM_000287		42935173	-1	no_errors	ENST00000304611	ensembl	human	known	70_37	missense	SNP	0.216	T	T	42935173	C	T	42935173	3	4	111	1	0	0	0	0	1	0	0	0	11774	652	23	2	1165	2	PEX6	6	42935173	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	702632	42935173	128179894	82	16715										
CUL9	23113	genome.wustl.edu	37	chr6	43153970	43153970	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	catctttcagccctacatttCaggccccagccttttactcc	4	17	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:43153970C>T	ENST00000252050.4	+	4	1112	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	CUL9_ENST00000372647.2_Missense_Mutation_p.S343L|CUL9_ENST00000354495.3_Missense_Mutation_p.S343L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	343					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCTACATTTCAGGCCCCAGC	0.602																																																	0													92	93	92					6																	43153970		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1028C>T	6.37:g.43153970C>T	ENSP00000252050:p.Ser343Leu		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.S343L	ENST00000252050.4	37	c.1028	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488419	0.44249	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74947	-0.89;-0.89;-0.79	5.5	4.62	0.57501	.	0.523860	0.21539	N	0.072936	T	0.56934	0.2019	L	0.47716	1.5	0.09310	N	1	B;B;P	0.48998	0.146;0.146;0.918	B;B;B	0.41236	0.038;0.038;0.351	T	0.58521	-0.7622	10	0.72032	D	0.01	-5.8674	13.7075	0.62648	0.0:0.9259:0.0:0.0741	.	343;343;343	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	L	343	ENSP00000252050:S343L;ENSP00000346490:S343L;ENSP00000361730:S343L	ENSP00000252050:S343L	S	+	2	0	CUL9	43261948	0.259000	0.24043	0.889000	0.34880	0.614000	0.37383	3.536000	0.53582	2.587000	0.87381	0.467000	0.42956	TCA	CUL9	-	NULL		0.602	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43153970	1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	0.034	T	T	43153970	C	T	43153970	3	4	111	1	0	0	0	0	1	0	0	0	4066	838	29	1	1038	1	CUL9	6	43153970	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	218797	43153970	127961097	83	16716										
CLIC5	53405	genome.wustl.edu	37	chr6	46047621	46047621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tctcctggagttctgctgcgCagagttgctggtcctgggtt	14	10	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:46047621C>T	ENST00000185206.6	-	1	511	c.359G>A	c.(358-360)tGc>tAc	p.C120Y		NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	120					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TTCTGCTGCGCAGAGTTGCTG	0.517																																																	0													61	58	59					6																	46047621		692	1591	2283	SO:0001583	missense	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.359G>A	6.37:g.46047621C>T	ENSP00000185206:p.Cys120Tyr		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.C120Y	ENST00000185206.6	37	c.359	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841641	0.16963	.	.	ENSG00000112782	ENST00000185206	T	0.19532	2.14	4.51	-3.85	0.04243	.	2.518560	0.01469	N	0.016209	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.20046	T	0.44	.	5.8363	0.18609	0.1466:0.2254:0.0:0.628	.	120	Q9NZA1	CLIC5_HUMAN	Y	120	ENSP00000185206:C120Y	ENSP00000185206:C120Y	C	-	2	0	CLIC5	46155580	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-3.805000	0.00362	-0.973000	0.03555	-0.140000	0.14226	TGC	CLIC5	-	NULL		0.517	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	C			46047621	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	missense	SNP	0.000	T	T	46047621	C	T	46047621	3	4	111	1	0	0	0	0	1	0	0	0	3534	710	25	4	964	4	CLIC5	6	46047621	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2893651	46047621	125067446	84	16717										
DST	667	genome.wustl.edu	37	chr6	56481855	56481855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggtaaagccctgcaattgagGtggctttcgtcagaaacttg	12	8	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:56481855G>T	ENST00000370765.6	-	24	6517	c.6410C>A	c.(6409-6411)aCc>aAc	p.T2137N	DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1894					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAATTGAGGTGGCTTTCGT	0.418																																																	0													50	51	51					6																	56481855		2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6410C>A	6.37:g.56481855G>T	ENSP00000359801:p.Thr2137Asn		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.T2137N	ENST00000370765.6	37	c.6410	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254303	0.59212	.	.	ENSG00000151914	ENST00000370765	T	0.68181	-0.31	5.77	4.89	0.63831	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.09310	N	0.999995	P	0.35793	0.521	B	0.33121	0.158	T	0.40194	-0.9576	7	0.23302	T	0.38	.	16.4672	0.84083	0.0:0.0:0.8676:0.1324	.	2137	Q03001-3	.	N	2137	ENSP00000359801:T2137N	ENSP00000359801:T2137N	T	-	2	0	DST	56589814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.885000	0.56182	1.557000	0.49525	0.650000	0.86243	ACC	DST	-	smart_Plectin_repeat		0.418	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	G	NM_001723		56481855	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56481855	G	T	56481855	3	4	111	1	0	0	0	0	1	0	0	0	4793	1261	44	4	13989	4	DST	6	56481855	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	10434234	56481855	114633212	85	16718										
COL12A1	1303	genome.wustl.edu	37	chr6	75812365	75812365	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cctgagggcctggaggacccTgggggcctggaggacctatg	18	11	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:75812365T>G	ENST00000322507.8	-	56	8672	c.8363A>C	c.(8362-8364)cAg>cCg	p.Q2788P	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2712P|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2788P|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q1624P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2788	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGAGGACCCTGGGGGCCTGG	0.498																																																	0													57	56	56					6																	75812365		1822	4084	5906	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8363A>C	6.37:g.75812365T>G	ENSP00000325146:p.Gln2788Pro		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.Q2788P	ENST00000322507.8	37	c.8363	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961471	0.53400	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.29	5.29	0.74685	.	0.122525	0.51477	D	0.000092	D	0.91429	0.7295	N	0.04132	-0.27	0.37985	D	0.93371	D;D	0.76494	0.996;0.999	P;D	0.64506	0.836;0.926	D	0.94111	0.7371	10	0.49607	T	0.09	.	13.8125	0.63273	0.0:0.0:0.0:1.0	.	1624;2788	Q99715-2;Q99715	.;COCA1_HUMAN	P	2788;426;2712;1624;2712;2788	ENSP00000325146:Q2788P;ENSP00000399812:Q426P;ENSP00000305147:Q1624P;ENSP00000412864:Q2712P;ENSP00000421216:Q2788P	ENSP00000325146:Q2788P	Q	-	2	0	COL12A1	75869085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.584000	0.46102	1.997000	0.58415	0.482000	0.46254	CAG	COL12A1	-	pfam_Collagen		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	T	NM_004370		75812365	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75812365	T	G	75812365	3	3	111	1	0	0	0	0	1	0	0	0	3674	1580	55	5	872	5	COL12A1	6	75812365	Missense_Mutation	SNP	T	TCGA-EK-A2RK-01A-11D-A18J-09	19330510	75812365	95302702	86	16719										
KIAA1009	22832	genome.wustl.edu	37	chr6	84836213	84836213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttctttggcttctctcaattCttctaagagttttgtaatct	5	8	6	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:84836213C>T	ENST00000403245.3	-	26	4003	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E1221K	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTCAATTCTTCTAAGAGT	0.303																																																	0													89	80	83					6																	84836213		2193	4280	6473	SO:0001583	missense	22832																														ENST00000403245.3:c.3889G>A	6.37:g.84836213C>T	ENSP00000385215:p.Glu1297Lys			Missense_Mutation	SNP	NULL	p.E1297K	ENST00000403245.3	37	c.3889	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290288	0.80914	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.22945	1.93;1.93	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.49699	1.58	0.49687	D	0.999814	D	0.71674	0.998	D	0.80764	0.994	T	0.05903	-1.0857	10	0.42905	T	0.14	-20.9202	18.4242	0.90604	0.0:1.0:0.0:0.0	.	1297	Q5TB80	QN1_HUMAN	K	1221;1297	ENSP00000257766:E1221K;ENSP00000385215:E1297K	ENSP00000257766:E1221K	E	-	1	0	KIAA1009	84892932	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.226000	0.72277	2.430000	0.82344	0.655000	0.94253	GAA	KIAA1009	-	NULL		0.303	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84836213	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84836213	C	T	84836213	3	4	111	1	0	0	0	0	1	0	0	0	8223	922	32	1	330	1	KIAA1009	6	84836213	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	9023848	84836213	86278854	87	16720										
SFRS18	25957	genome.wustl.edu	37	chr6	99849308	99849308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cactactagaacttcccgacCtactccttccttgtttttct	3	15	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:99849308C>G	ENST00000369239.5	-	12	1730	c.1526G>C	c.(1525-1527)aGg>aCg	p.R509T	PNISR_ENST00000438806.1_Missense_Mutation_p.R509T	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	509	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACTTCCCGACCTACTCCTTCC	0.383																																																	0													126	115	119					6																	99849308		2203	4300	6503	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1526G>C	6.37:g.99849308C>G	ENSP00000358242:p.Arg509Thr		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.R509T	ENST00000369239.5	37	c.1526	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328705	0.41197	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.35	4.46	0.54185	.	0.243428	0.46758	D	0.000264	T	0.25044	0.0608	L	0.27053	0.805	0.41132	D	0.985891	B	0.25609	0.13	B	0.25987	0.065	T	0.05989	-1.0852	9	0.13853	T	0.58	.	11.257	0.49060	0.0:0.8549:0.0:0.1451	.	509	Q8TF01	PNISR_HUMAN	T	509	.	ENSP00000358242:R509T	R	-	2	0	PNISR	99956029	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.143000	0.50608	2.669000	0.90835	0.579000	0.79373	AGG	PNISR	-	NULL		0.383	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	C	NM_032870		99849308	-1	no_errors	ENST00000369239	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99849308	C	G	99849308	3	3	111	1	0	0	0	0	1	0	0	0	14204	681	24	4	895	4	SFRS18	6	99849308	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	15013095	99849308	71265759	88	16721										
GTF3C6	112495	genome.wustl.edu	37	chr6	111279991	111279991	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccatggcggcggcggcggacGagcggagtccagaggacgga	20	11	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:111279991G>T	ENST00000329970.7	+	1	229	c.19G>T	c.(19-21)Gag>Tag	p.E7*		NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	7					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GGCGGCGGACGAGCGGAGTCC	0.677																																																	0													20	16	18					6																	111279991		1947	3876	5823	SO:0001587	stop_gained	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.19G>T	6.37:g.111279991G>T	ENSP00000357863:p.Glu7*		Q5VXN2	Nonsense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.E7*	ENST00000329970.7	37	c.19	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754839	0.89843	.	.	ENSG00000155115	ENST00000329970	.	.	.	3.8	-0.174	0.13319	.	1.299070	0.05135	N	0.493295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0276	7.6241	0.28202	0.1045:0.5515:0.344:0.0	.	.	.	.	X	7	.	ENSP00000357863:E7X	E	+	1	0	GTF3C6	111386684	0.001000	0.12720	0.004000	0.12327	0.035000	0.12851	0.568000	0.23623	-0.057000	0.13199	-0.479000	0.04858	GAG	GTF3C6	-	NULL		0.677	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	G	NM_138408		111279991	1	no_errors	ENST00000329970	ensembl	human	known	70_37	nonsense	SNP	0.004	T	T	111279991	G	T	111279991	4	4	111	1	0	0	0	0	0	1	0	0	6897	1059	37	3	21	3	GTF3C6	6	111279991	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	11430683	111279991	59835076	89	16722										
RSPH4A	345895	genome.wustl.edu	37	chr6	116943980	116943980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agatattaaatgagcgtcctGaaaatgctgttgacatcttt	8	6	1	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:116943980G>A	ENST00000229554.5	+	2	873	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	RSPH4A_ENST00000368580.4_Missense_Mutation_p.E246K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E246K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	246					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAGCGTCCTGAAAATGCTGT	0.318									Kartagener syndrome																																								0													90	98	95					6																	116943980		2203	4300	6503	SO:0001583	missense	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.736G>A	6.37:g.116943980G>A	ENSP00000229554:p.Glu246Lys		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.E246K	ENST00000229554.5	37	c.736	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754485	0.49362	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	T;T;T	0.17528	2.27;2.27;2.27	4.8	4.8	0.61643	.	0.588554	0.19306	N	0.117514	T	0.09335	0.0230	L	0.54323	1.7	0.26932	N	0.966439	P;B	0.37061	0.58;0.149	B;B	0.37888	0.26;0.06	T	0.09465	-1.0673	10	0.31617	T	0.26	-5.1608	13.533	0.61633	0.0:0.0:1.0:0.0	.	246;246	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	246;246;41;246	ENSP00000357570:E246K;ENSP00000229554:E246K;ENSP00000357569:E246K	ENSP00000229554:E246K	E	+	1	0	RSPH4A	117050673	0.899000	0.30636	1.000000	0.80357	0.996000	0.88848	0.684000	0.25364	2.661000	0.90470	0.609000	0.83330	GAA	RSPH4A	-	pfam_Radial_spoke		0.318	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	G	NM_001010892		116943980	1	no_errors	ENST00000229554	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116943980	G	A	116943980	3	1	111	1	0	0	0	0	1	0	0	0	13736	1291	45	1	742	1	RSPH4A	6	116943980	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	5663989	116943980	54171087	90	16723										
EZR	7430	genome.wustl.edu	37	chr6	159188508	159188508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	catcaccaggtgcagctcctCcttggtcttcaccaggtcat	8	15	4	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr6:159188508C>T	ENST00000367075.3	-	13	1549	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	EZR_ENST00000337147.7_Missense_Mutation_p.E461K|MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Missense_Mutation_p.E429K	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	461	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGCAGCTCCTCCTTGGTCTTC	0.572			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													57	58	58					6																	159188508		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1381G>A	6.37:g.159188508C>T	ENSP00000356042:p.Glu461Lys		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.E461K	ENST00000367075.3	37	c.1381	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646910	0.67358	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.82526	-1.62;-1.62;-1.62	5.33	5.33	0.75918	Ezrin/radixin/moesin, C-terminal (1);	0.140816	0.64402	D	0.000006	D	0.84379	0.5459	M	0.78049	2.395	0.53688	D	0.999974	P;B	0.37731	0.607;0.155	P;B	0.45794	0.493;0.201	D	0.84217	0.0459	10	0.39692	T	0.17	.	19.0116	0.92875	0.0:1.0:0.0:0.0	.	429;461	E7EQR4;P15311	.;EZRI_HUMAN	K	461;461;429	ENSP00000338934:E461K;ENSP00000356042:E461K;ENSP00000376016:E429K	ENSP00000338934:E461K	E	-	1	0	EZR	159108496	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.819000	0.62664	2.489000	0.83994	0.462000	0.41574	GAG	EZR	-	pirsf_ERM,pfam_ERM_C		0.572	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159188508	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159188508	C	T	159188508	3	4	111	1	0	0	0	0	1	0	0	0	5347	864	30	1	387	1	EZR	6	159188508	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	42244528	159188508	11926559	91	16724										
FOXK1	221937	genome.wustl.edu	37	chr7	4801904	4801904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgtgcgaggtggggcccaagGagccagcagcagccgtcgcg	18	12	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:4801904G>A	ENST00000328914.4	+	9	2011	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	FOXK1_ENST00000446823.1_Missense_Mutation_p.E508K	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GGGGCCCAAGGAGCCAGCAGC	0.692																																																	0													23	19	20					7																	4801904		2032	3994	6026	SO:0001583	missense	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.2011G>A	7.37:g.4801904G>A	ENSP00000328720:p.Glu671Lys			Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.E671K	ENST00000328914.4	37	c.2011	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	g	18.98	3.737646	0.69304	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95853	-3.43;-3.83	4.82	4.82	0.62117	.	0.147859	0.44097	D	0.000489	D	0.90693	0.7080	N	0.22421	0.69	0.41902	D	0.990421	B;B	0.34290	0.028;0.447	B;B	0.30572	0.012;0.117	D	0.91112	0.4923	10	0.54805	T	0.06	.	15.0709	0.72037	0.0:0.0:1.0:0.0	.	671;508	P85037;P85037-2	FOXK1_HUMAN;.	K	508;427;671;554	ENSP00000394442:E508K;ENSP00000328720:E671K	ENSP00000328720:E671K	E	+	1	0	FOXK1	4768430	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.959000	0.56744	2.232000	0.73038	0.556000	0.70494	GAG	FOXK1	-	NULL		0.692	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	G			4801904	1	no_errors	ENST00000328914	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4801904	G	A	4801904	3	1	111	1	0	0	0	0	1	0	0	0	6032	1175	41	1	2045	1	FOXK1	7	4801904	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		4801904	154336759	92	16725										
NFE2L3	9603	genome.wustl.edu	37	chr7	26225031	26225031	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	atgttaagtagatattatctGacagacctacaagtctcact	6	8	2	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:26225031G>C	ENST00000056233.3	+	4	1972	c.1713G>C	c.(1711-1713)ctG>ctC	p.L571L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	571					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GATATTATCTGACAGACCTAC	0.388																																																	0													84	80	81					7																	26225031		2202	4300	6502	SO:0001819	synonymous_variant	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1713G>C	7.37:g.26225031G>C			Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L571	ENST00000056233.3	37	c.1713	CCDS5396.1	7																																																																																			NFE2L3	-	pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd		0.388	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	G			26225031	1	no_errors	ENST00000056233	ensembl	human	known	70_37	silent	SNP	1.000	C	C	26225031	G	C	26225031	2	2	111	1	0	0	0	0	0	0	0	1	10393	1277	45	1		1	NFE2L3	7	26225031	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	21423127	26225031	132913632	93	16726										
EVX1	2128	genome.wustl.edu	37	chr7	27285668	27285668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cctgcccctgccctactactCgccggtgggcctgggcgccg	13	19	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:27285668C>T	ENST00000496902.4	+	3	1334	c.848C>T	c.(847-849)tCg>tTg	p.S283L	EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.S101L|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	283					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CCCTACTACTCGCCGGTGGGC	0.746																																																	0													8	11	10					7																	27285668		2124	4177	6301	SO:0001583	missense	2128				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.848C>T	7.37:g.27285668C>T	ENSP00000419266:p.Ser283Leu		A4D199|B4DQJ0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S283L	ENST00000496902.4	37	c.848	CCDS5413.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054065	0.75960	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.92545	-2.91;-3.06	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.70595	2.14	0.58432	D	0.999999	D	0.53312	0.959	P	0.44860	0.462	D	0.93142	0.6542	10	0.54805	T	0.06	-17.1194	18.4512	0.90704	0.0:1.0:0.0:0.0	.	283	P49640	EVX1_HUMAN	L	283;101	ENSP00000419266:S283L;ENSP00000446458:S101L	ENSP00000419266:S283L	S	+	2	0	EVX1	27252193	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.323000	0.79105	2.342000	0.79632	0.462000	0.41574	TCG	EVX1	-	NULL		0.746	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVX1	HGNC	protein_coding	OTTHUMT00000358750.3	C			27285668	1	no_errors	ENST00000496902	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27285668	C	T	27285668	3	4	111	1	0	0	0	0	1	0	0	0	5306	893	31	1	858	1	EVX1	7	27285668	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1060637	27285668	131852995	94	16727										
CYP3A7	1551	genome.wustl.edu	37	chr7	99311102	99311102	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cttttgttacctttgtgggtCtcagagtcttttgaattctg	9	7	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:99311102C>T	ENST00000336374.2	-	9	857	c.855G>A	c.(853-855)gaG>gaA	p.E285E	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	285					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTTTGTGGGTCTCAGAGTCTT	0.433																																																	0													108	103	105					7																	99311102		2203	4300	6503	SO:0001819	synonymous_variant	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.855G>A	7.37:g.99311102C>T			A4D288|Q9H241	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E285	ENST00000336374.2	37	c.855	CCDS5673.1	7																																																																																			CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.433	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	C			99311102	-1	no_errors	ENST00000336374	ensembl	human	known	70_37	silent	SNP	0.000	T	T	99311102	C	T	99311102	2	4	111	1	0	0	0	0	0	0	0	1	4186	912	32	1		1	CYP3A7	7	99311102	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	72025434	99311102	59827561	95	16728										
OR2AE1	81392	genome.wustl.edu	37	chr7	99474453	99474453	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagacatgcatcagatccatGagggagagctggctgagcag	15	8	1	5			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:99474453G>C	ENST00000316368.2	-	1	227	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAGATCCATGAGGGAGAGCT	0.493																																																	0													104	90	94					7																	99474453		2203	4300	6503	SO:0001819	synonymous_variant	81392			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.204C>G	7.37:g.99474453G>C			B2RPD2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L68	ENST00000316368.2	37	c.204	CCDS34696.1	7																																																																																			OR2AE1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1	G			99474453	-1	no_errors	ENST00000316368	ensembl	human	known	70_37	silent	SNP	1.000	C	C	99474453	G	C	99474453	2	2	111	1	0	0	0	0	0	0	0	1	11007	1277	45	1		1	OR2AE1	7	99474453	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	163351	99474453	59664210	96	16729										
OR2AE1	81392	genome.wustl.edu	37	chr7	99474518	99474518	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gggatcaatgcagatgaggaGaatggtgagggtgttgccac	17	5	1	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:99474518G>C	ENST00000316368.2	-	1	162	c.139C>G	c.(139-141)Ctc>Gtc	p.L47V		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGATGAGGAGAATGGTGAGG	0.502																																																	0													99	93	95					7																	99474518		2203	4300	6503	SO:0001583	missense	81392			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.139C>G	7.37:g.99474518G>C	ENSP00000313936:p.Leu47Val		B2RPD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L47V	ENST00000316368.2	37	c.139	CCDS34696.1	7	.	.	.	.	.	.	.	.	.	.	G	5.526	0.281981	0.10458	.	.	ENSG00000244623	ENST00000316368	T	0.04083	3.71	3.63	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36200	N	0.002728	T	0.03871	0.0109	L	0.45744	1.44	0.09310	N	0.999999	P	0.42871	0.792	B	0.36959	0.237	T	0.39231	-0.9624	10	0.56958	D	0.05	.	2.3772	0.04345	0.109:0.192:0.5014:0.1975	.	47	Q8NHA4	O2AE1_HUMAN	V	47	ENSP00000313936:L47V	ENSP00000313936:L47V	L	-	1	0	OR2AE1	99312454	0.000000	0.05858	0.566000	0.28421	0.166000	0.22503	-2.151000	0.01289	0.512000	0.28257	0.501000	0.49751	CTC	OR2AE1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1	G			99474518	-1	no_errors	ENST00000316368	ensembl	human	known	70_37	missense	SNP	0.090	C	C	99474518	G	C	99474518	3	2	111	1	0	0	0	0	1	0	0	0	11007	942	33	1	836	1	OR2AE1	7	99474518	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	65	99474518	59664145	97	16730										
LRRC4	64101	genome.wustl.edu	37	chr7	127670470	127670470	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggttgaggtaccgggtgttcGagggaataccctgcgggacc	17	9	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:127670470G>C	ENST00000249363.3	-	2	481	c.224C>G	c.(223-225)tCg>tGg	p.S75W	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	75	LRRNT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CCGGGTGTTCGAGGGAATACC	0.637																																																	0													171	173	172					7																	127670470		2203	4300	6503	SO:0001583	missense	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.224C>G	7.37:g.127670470G>C	ENSP00000249363:p.Ser75Trp		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S75W	ENST00000249363.3	37	c.224	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998277	0.54147	.	.	ENSG00000128594	ENST00000249363;ENST00000476782	T;T	0.45668	0.89;0.89	4.66	4.66	0.58398	Leucine-rich repeat-containing N-terminal (1);	0.080065	0.51477	D	0.000098	T	0.63510	0.2517	M	0.85542	2.76	0.58432	D	0.999999	D	0.71674	0.998	P	0.58454	0.839	T	0.70687	-0.4803	10	0.62326	D	0.03	.	15.09	0.72185	0.0:0.0:1.0:0.0	.	75	Q9HBW1	LRRC4_HUMAN	W	75	ENSP00000249363:S75W;ENSP00000418093:S75W	ENSP00000249363:S75W	S	-	2	0	LRRC4	127457706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.475000	0.60210	2.373000	0.80994	0.655000	0.94253	TCG	LRRC4	-	smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp		0.637	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	G	NM_022143		127670470	-1	no_errors	ENST00000249363	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127670470	G	C	127670470	3	2	111	1	0	0	0	0	1	0	0	0	9020	1059	37	1	1741	1	LRRC4	7	127670470	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	28195952	127670470	31468193	98	16731										
FLNC	2318	genome.wustl.edu	37	chr7	128489420	128489420	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctcgaatccagattgggcagGagacggtgatcacggtggat	15	8	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:128489420G>T	ENST00000325888.8	+	30	5248	c.4987G>T	c.(4987-4989)Gag>Tag	p.E1663*	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Nonsense_Mutation_p.E1663*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1663					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATTGGGCAGGAGACGGTGAT	0.647																																																	0													59	67	65					7																	128489420		2127	4242	6369	SO:0001587	stop_gained	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4987G>T	7.37:g.128489420G>T	ENSP00000327145:p.Glu1663*		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1663*	ENST00000325888.8	37	c.4987	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	46	12.760839	0.99694	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.65	5.65	0.86999	.	0.054216	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7405	0.96228	0.0:0.0:1.0:0.0	.	.	.	.	X	1663	.	ENSP00000327145:E1663X	E	+	1	0	FLNC	128276656	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.638000	0.74309	2.655000	0.90218	0.655000	0.94253	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128489420	1	no_errors	ENST00000325888	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	128489420	G	T	128489420	4	4	111	1	0	0	0	0	0	1	0	0	5953	1175	41	3	5105	3	FLNC	7	128489420	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	818950	128489420	30649243	99	16732										
FLNC	2318	genome.wustl.edu	37	chr7	128492713	128492713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	acgtgtcactgaagatcaccGagagtgatctgagccagctg	12	10	3	5			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:128492713G>A	ENST00000325888.8	+	36	6172	c.5911G>A	c.(5911-5913)Gag>Aag	p.E1971K	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.E1938K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1971					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAAGATCACCGAGAGTGATCT	0.627																																																	0													40	45	44					7																	128492713		2056	4189	6245	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5911G>A	7.37:g.128492713G>A	ENSP00000327145:p.Glu1971Lys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1971K	ENST00000325888.8	37	c.5911	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.688721	0.96784	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.43294	0.95;0.95	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.989	T	0.77078	-0.2721	10	0.66056	D	0.02	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	1938;1971	Q14315-2;Q14315	.;FLNC_HUMAN	K	1971;1938	ENSP00000327145:E1971K;ENSP00000344002:E1938K	ENSP00000327145:E1971K	E	+	1	0	FLNC	128279949	1.000000	0.71417	0.968000	0.41197	0.985000	0.73830	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG	FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128492713	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128492713	G	A	128492713	3	1	111	1	0	0	0	0	1	0	0	0	5953	1059	37	1	6053	1	FLNC	7	128492713	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3293	128492713	30645950	100	16733										
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138455977	138455977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caaacacatctcctcgcttcGaaacacagacaccatcttgg	5	15	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:138455977G>A	ENST00000310018.2	-	3	298	c.16C>T	c.(16-18)Cga>Tga	p.R6*	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.R6*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.R6*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	6					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCTCGCTTCGAAACACAGAC	0.433																																																	0			GRCh37	CM065982	ATP6V0A4	M							143	140	141					7																	138455977		2203	4300	6503	SO:0001587	stop_gained	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.16C>T	7.37:g.138455977G>A	ENSP00000308122:p.Arg6*		A4D1R4|A8KA80|Q32M47	Nonsense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.R6*	ENST00000310018.2	37	c.16	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.348279	0.98228	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7712	16.9469	0.86232	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000308122:R6X	R	-	1	2	ATP6V0A4	138106517	1.000000	0.71417	0.992000	0.48379	0.940000	0.58332	4.051000	0.57412	2.454000	0.82982	0.557000	0.71058	CGA	ATP6V0A4	-	NULL		0.433	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	G	NM_020632		138455977	-1	no_errors	ENST00000310018	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	138455977	G	A	138455977	4	1	111	1	0	0	0	0	0	1	0	0	1171	1066	37	1	2586	1	ATP6V0A4	7	138455977	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	9963264	138455977	20682686	101	16734										
BRAF	673	genome.wustl.edu	37	chr7	140550007	140550007	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttaatcatttgtttgatattCcacacctaaaaaatatttca	2	7	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:140550007C>T	ENST00000288602.6	-	2	204	c.144G>A	c.(142-144)tgG>tgA	p.W48*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	48					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTTTGATATTCCACACCTAAA	0.308		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													98	104	102					7																	140550007		2203	4300	6503	SO:0001587	stop_gained	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.144G>A	7.37:g.140550007C>T	ENSP00000288602:p.Trp48*		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.W48*	ENST00000288602.6	37	c.144	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021759	0.93462	.	.	ENSG00000157764	ENST00000288602	.	.	.	4.89	4.89	0.63831	.	0.056016	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.9487	0.71054	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000288602:W48X	W	-	3	0	BRAF	140196476	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.205000	0.77881	2.268000	0.75426	0.555000	0.69702	TGG	BRAF	-	NULL		0.308	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	C	NM_004333		140550007	-1	no_errors	ENST00000288602	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	140550007	C	T	140550007	4	4	111	1	0	0	0	0	0	1	0	0	1499	856	30	1	2224	1	BRAF	7	140550007	Nonsense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2094030	140550007	18588656	102	16735										
MGAM	8972	genome.wustl.edu	37	chr7	141752684	141752684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tggggccacagctgacatctCcttaaagtcttccgtttatg	9	11	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:141752684C>A	ENST00000549489.2	+	26	3154	c.3059C>A	c.(3058-3060)tCc>tAc	p.S1020Y	MGAM_ENST00000475668.2_Missense_Mutation_p.S1020Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1020					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1020F(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGACATCTCCTTAAAGTCT	0.468																																																	3	Substitution - Missense(3)	lung(3)											145	135	138					7																	141752684		1945	4147	6092	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3059C>A	7.37:g.141752684C>A	ENSP00000447378:p.Ser1020Tyr		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S1020Y	ENST00000549489.2	37	c.3059	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041040	0.35989	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.10668	2.85	4.2	2.3	0.28687	Glycoside hydrolase-type carbohydrate-binding (1);	0.433124	0.17208	N	0.182879	T	0.13884	0.0336	M	0.75615	2.305	0.09310	N	1	P	0.40211	0.707	B	0.37943	0.261	T	0.09684	-1.0663	10	0.66056	D	0.02	.	8.9312	0.35672	0.0:0.8004:0.0:0.1996	.	1020	O43451	MGA_HUMAN	Y	1020;1020;897	ENSP00000447378:S1020Y	ENSP00000316431:S897Y	S	+	2	0	MGAM	141399153	0.055000	0.20627	0.526000	0.27913	0.475000	0.33008	0.182000	0.16900	0.711000	0.32018	0.454000	0.30748	TCC	MGAM	-	superfamily_Glyco_hydro-type_carb-bd		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	C			141752684	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.082	A	A	141752684	C	A	141752684	3	1	111	1	0	0	0	0	1	0	0	0	9564	855	30	3	3157	3	MGAM	7	141752684	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1202677	141752684	17385979	103	16736										
ATP6V0E2	155066	genome.wustl.edu	37	chr7	149571037	149571037	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgcggcccggcccggctgatCgcttcgggtgctcgactcct	14	17	0	1	rs207468794		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:149571037C>T	ENST00000425642.2	+	0	0				ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000606024.1_5'Flank|ATP6V0E2_ENST00000464662.1_5'Flank|ATP6V0E2_ENST00000479613.1_5'Flank|ATP6V0E2_ENST00000456496.2_Silent_p.I10I|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000421974.2_Silent_p.I10I			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CCCGGCTGATCGCTTCGGGTG	0.721																																																	0																																										SO:0001631	upstream_gene_variant	155066			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094		7.37:g.149571037C>T	Exception_encountered		A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	pfam_ATPase_V0-cplx_esu	p.I10	ENST00000425642.2	37	c.30		7																																																																																			ATP6V0E2	-	NULL		0.721	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	C	NM_145230		149571037	1	no_errors	ENST00000421974	ensembl	human	known	70_37	silent	SNP	0.000	T	T	149571037	C	T	149571037	1	4	111	0	1	0	0	0	0	0	0	0	1177	874	31	1		1	ATP6V0E2	7	149571037	5'Flank	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	7818353	149571037	9567626	104	16737										
MLL3	58508	genome.wustl.edu	37	chr7	151848594	151848595	+	Frame_Shift_Ins	INS	-	-	GA													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aagaataaccactttacaatINSgacaacaccactgtggtctg							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr7:151848594_151848595insGA	ENST00000262189.6	-	50	12816_12817	c.12598_12599insTC	c.(12598-12600)catfs	p.H4200fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.H4257fs|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4200					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACTTTACAATGACAACACCAC	0.411																																																	0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12597_12598dupTC	7.37:g.151848595_151848596dupGA	ENSP00000262189:p.His4200fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H4257fs	ENST00000262189.6	37	c.12770_12769	CCDS5931.1	7																																																																																			MLL3	-	NULL		0.411	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	-			151848595	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GA	GA	151848595	-	GA	151848594	7	5	111	1	0	1	1	0	0	0	0	0	9645	1464	51	0	2176	0	MLL3	7	151848594	Frame_Shift_Ins	INS	-	TCGA-EK-A2RK-01A-11D-A18J-09	2277557	151848594	7290069	105	16738										
DLC1	10395	genome.wustl.edu	37	chr8	12943362	12943362	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtttcagtgttctggttactGaaggaatcccggatctttac	10	8	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr8:12943362G>A	ENST00000276297.4	-	18	4954	c.4545C>T	c.(4543-4545)ttC>ttT	p.F1515F	DLC1_ENST00000358919.2_Silent_p.F1078F|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Silent_p.F1112F|DLC1_ENST00000520226.1_Silent_p.F1004F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1515	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTGGTTACTGAAGGAATCCC	0.433																																																	0													205	182	190					8																	12943362		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4545C>T	8.37:g.12943362G>A			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.F1515	ENST00000276297.4	37	c.4545	CCDS5989.1	8																																																																																			DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd		0.433	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12943362	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.997	A	A	12943362	G	A	12943362	2	1	111	1	0	0	0	0	0	0	0	1	4560	1281	45	1		1	DLC1	8	12943362	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		12943362	133420660	106	16739										
ZFHX4	79776	genome.wustl.edu	37	chr8	77764826	77764826	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agacacaaagaagcaaaaatCcttggaaccatccatcccac	5	13	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr8:77764826C>G	ENST00000521891.2	+	10	6117	c.5669C>G	c.(5668-5670)tCc>tGc	p.S1890C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1845C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1864C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1845C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1845					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1890Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCAAAAATCCTTGGAACCA	0.433										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											33	29	30					8																	77764826		1879	4115	5994	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5669C>G	8.37:g.77764826C>G	ENSP00000430497:p.Ser1890Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S1890C	ENST00000521891.2	37	c.5669	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693460	0.30052	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.68	4.71	4.71	0.59529	.	0.177434	0.27031	U	0.021265	T	0.41766	0.1173	L	0.45581	1.43	0.26338	N	0.977408	P;P;P	0.44816	0.758;0.844;0.844	B;B;B	0.39379	0.156;0.298;0.298	T	0.47433	-0.9118	10	0.54805	T	0.06	.	13.958	0.64162	0.0:0.8481:0.1519:0.0	.	1845;1845;1890	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	1890;1890;1845;1845;1864	ENSP00000430497:S1890C;ENSP00000399605:S1845C;ENSP00000050961:S1845C;ENSP00000430848:S1864C	ENSP00000050961:S1845C	S	+	2	0	ZFHX4	77927381	0.886000	0.30341	0.819000	0.32651	0.998000	0.95712	3.808000	0.55598	2.631000	0.89168	0.632000	0.83419	TCC	ZFHX4	-	NULL		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77764826	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	0.837	G	G	77764826	C	G	77764826	3	3	111	1	0	0	0	0	1	0	0	0	17665	855	30	1	5703	1	ZFHX4	8	77764826	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	64821464	77764826	68599196	107	16740										
TG	7038	genome.wustl.edu	37	chr8	133899234	133899234	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggaacccctgaagctgctaaGaaggatggtactatgaataa	11	7	0	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr8:133899234G>C	ENST00000220616.4	+	9	1657	c.1617G>C	c.(1615-1617)aaG>aaC	p.K539N	TG_ENST00000377869.1_Missense_Mutation_p.K539N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	539					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGCTGCTAAGAAGGATGGTA	0.448																																																	0													57	58	58					8																	133899234		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1617G>C	8.37:g.133899234G>C	ENSP00000220616:p.Lys539Asn		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.K539N	ENST00000220616.4	37	c.1617	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686861	0.14973	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66280	-0.2;-0.2	5.06	2.31	0.28768	.	0.964926	0.08531	N	0.931982	T	0.59998	0.2235	M	0.69823	2.125	0.09310	N	1	B	0.33583	0.418	B	0.29176	0.099	T	0.51903	-0.8646	10	0.87932	D	0	.	9.4825	0.38908	0.2296:0.0:0.7704:0.0	.	539	P01266	THYG_HUMAN	N	539	ENSP00000367100:K539N;ENSP00000220616:K539N	ENSP00000220616:K539N	K	+	3	2	TG	133968416	0.001000	0.12720	0.000000	0.03702	0.227000	0.25037	1.122000	0.31295	0.319000	0.23209	0.557000	0.71058	AAG	TG	-	pirsf_Thyroglobulin		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133899234	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.001	C	C	133899234	G	C	133899234	3	2	111	1	0	0	0	0	1	0	0	0	15843	933	33	1	1651	1	TG	8	133899234	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	56134408	133899234	12464788	108	16741										
MPDZ	8777	genome.wustl.edu	37	chr9	13176300	13176300	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aagccagaagcaggccccatActtatgtccaccgaaggtgt	10	12	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:13176300A>T	ENST00000319217.7	-	20	3013	c.2766T>A	c.(2764-2766)agT>agA	p.S922R	MPDZ_ENST00000381022.2_Missense_Mutation_p.S922R|MPDZ_ENST00000546205.1_Missense_Mutation_p.S922R|MPDZ_ENST00000541718.1_Missense_Mutation_p.S922R|MPDZ_ENST00000536827.1_Missense_Mutation_p.S922R|MPDZ_ENST00000447879.1_Missense_Mutation_p.S922R|MPDZ_ENST00000381015.4_Missense_Mutation_p.S922R	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	922					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGGCCCCATACTTATGTCCA	0.413																																																	0													105	90	95					9																	13176300		1861	4104	5965	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2766T>A	9.37:g.13176300A>T	ENSP00000320006:p.Ser922Arg		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.S922R	ENST00000319217.7	37	c.2766		9	.	.	.	.	.	.	.	.	.	.	A	3.686	-0.064567	0.07273	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.86;2.81;2.81;2.82;2.87;2.86;2.86	5.78	-0.0755	0.13726	.	0.516771	0.17870	N	0.159204	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.40515	-0.9559	10	0.20519	T	0.43	.	3.0332	0.06113	0.2854:0.1048:0.4908:0.119	.	922;922;922	B7ZMI4;O75970-3;O75970-2	.;.;.	R	922;922;922;922;922;922;872;922	ENSP00000320006:S922R;ENSP00000439807:S922R;ENSP00000370410:S922R;ENSP00000444151:S922R;ENSP00000415208:S922R;ENSP00000370403:S922R;ENSP00000446358:S922R	ENSP00000320006:S922R	S	-	3	2	MPDZ	13166300	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.244000	0.18124	0.063000	0.16370	-0.468000	0.05107	AGT	MPDZ	-	NULL		0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	A	NM_003829		13176300	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	0.000	T	T	13176300	A	T	13176300	3	4	111	1	0	0	0	0	1	0	0	0	9745	388	14	5	3467	5	MPDZ	9	13176300	Missense_Mutation	SNP	A	TCGA-EK-A2RK-01A-11D-A18J-09		13176300	128037131	109	16742										
DENND4C	55667	genome.wustl.edu	37	chr9	19372056	19372056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggcatttgacaatgaatatgGaattgcatacaatagtctgt	9	5	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:19372056G>A	ENST00000380432.2	+	28	4940	c.4907G>A	c.(4906-4908)gGa>gAa	p.G1636E	DENND4C_ENST00000602925.1_Missense_Mutation_p.G1872E|RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1921E			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1636					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATGAATATGGAATTGCATAC	0.368																																																	0													86	96	92					9																	19372056		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4907G>A	9.37:g.19372056G>A	ENSP00000369797:p.Gly1636Glu		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G1636E	ENST00000380432.2	37	c.4907		9	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993138	0.35131	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432;ENST00000361024	T;T	0.20598	2.06;2.06	5.46	3.1	0.35709	.	0.378221	0.28921	N	0.013718	T	0.09202	0.0227	N	0.04508	-0.205	0.29077	N	0.882958	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.001	T	0.25572	-1.0128	9	.	.	.	-4.592	11.0891	0.48104	0.2048:0.0:0.7952:0.0	.	966;1636	B7Z660;Q5VZ89	.;DEN4C_HUMAN	E	1636;1109;966;1109;633	ENSP00000305795:G1109E;ENSP00000443804:G966E	.	G	+	2	0	DENND4C	19362056	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.606000	0.36826	0.631000	0.30412	0.591000	0.81541	GGA	DENND4C	-	NULL		0.368	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		G	NM_017925		19372056	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19372056	G	A	19372056	3	1	111	1	0	0	0	0	1	0	0	0	4445	1174	41	1	5017	1	DENND4C	9	19372056	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	6195756	19372056	121841375	110	16743										
TEK	7010	genome.wustl.edu	37	chr9	27109601	27109601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggggaagcatggactctttaGccagcttagttctctgtgga	13	8	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:27109601G>A	ENST00000380036.4	+	1	455	c.13G>A	c.(13-15)Gcc>Acc	p.A5T	TEK_ENST00000519097.1_Missense_Mutation_p.A5T|TEK_ENST00000406359.4_Missense_Mutation_p.A5T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	5					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGACTCTTTAGCCAGCTTAGT	0.403																																																	0													252	234	240					9																	27109601		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.13G>A	9.37:g.27109601G>A	ENSP00000369375:p.Ala5Thr		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A5T	ENST00000380036.4	37	c.13	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963618	0.53507	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.73258	-0.73;-0.7;-0.72;2.87	5.5	5.5	0.81552	.	0.315220	0.22646	N	0.057384	T	0.73040	0.3536	N	0.12182	0.205	0.41717	D	0.989484	D;D;D;D;D	0.89917	0.993;0.993;1.0;0.993;0.993	D;D;D;D;D	0.80764	0.984;0.984;0.994;0.977;0.984	T	0.73110	-0.4086	10	0.30854	T	0.27	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	5;38;5;5;5	E7EWI2;Q59HG2;B5A953;E5RIV9;Q02763	.;.;.;.;TIE2_HUMAN	T	5	ENSP00000430686:A5T;ENSP00000369375:A5T;ENSP00000383977:A5T;ENSP00000428337:A5T	ENSP00000343716:A5T	A	+	1	0	TEK	27099601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.417000	0.73337	2.758000	0.94735	0.563000	0.77884	GCC	TEK	-	NULL		0.403	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	G			27109601	1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27109601	G	A	27109601	3	1	111	1	0	0	0	0	1	0	0	0	15781	971	34	4	15	4	TEK	9	27109601	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	7737545	27109601	114103830	111	16744										
TOPORS	10210	genome.wustl.edu	37	chr9	32542823	32542823	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggtttctgggagatgacaatGatgtagatcgtttctcttcc	11	7	2	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:32542823G>C	ENST00000360538.2	-	3	1816	c.1700C>G	c.(1699-1701)tCa>tGa	p.S567*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.S502*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	567	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGATGACAATGATGTAGATCG	0.378																																																	0													166	162	164					9																	32542823		2203	4300	6503	SO:0001587	stop_gained	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1700C>G	9.37:g.32542823G>C	ENSP00000353735:p.Ser567*		O43273|Q6P987|Q9NS55|Q9UNR9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S567*	ENST00000360538.2	37	c.1700	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376223	0.82682	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	.	.	.	5.67	5.67	0.87782	.	0.000000	0.35235	N	0.003345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.07	12.1066	0.53816	0.0:0.0:0.7254:0.2746	.	.	.	.	X	567;502	.	ENSP00000353735:S567X	S	-	2	0	TOPORS	32532823	0.998000	0.40836	0.672000	0.29872	0.629000	0.37895	3.178000	0.50879	2.675000	0.91044	0.650000	0.86243	TCA	TOPORS	-	NULL		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	G	NM_005802		32542823	-1	no_errors	ENST00000360538	ensembl	human	known	70_37	nonsense	SNP	0.958	C	C	32542823	G	C	32542823	4	2	111	1	0	0	0	0	0	1	0	0	16401	1294	45	1	1441	1	TOPORS	9	32542823	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	5433222	32542823	108670608	112	16745										
MELK	9833	genome.wustl.edu	37	chr9	36583688	36583688	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagatggtagctataaaaatCatggataaaaacacactagg	9	5	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:36583688C>T	ENST00000298048.2	+	3	307	c.123C>T	c.(121-123)atC>atT	p.I41I	MELK_ENST00000536860.1_Silent_p.I41I|MELK_ENST00000536987.1_Intron|MELK_ENST00000545008.1_Silent_p.I41I|MELK_ENST00000543751.1_Intron|MELK_ENST00000541717.1_Silent_p.I41I|MELK_ENST00000538311.1_Intron|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_Intron	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CTATAAAAATCATGGATAAAA	0.333																																					Ovarian(82;980 1317 7225 14391 18624)												0													68	67	68					9																	36583688		2203	4300	6503	SO:0001819	synonymous_variant	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.123C>T	9.37:g.36583688C>T			A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I41	ENST00000298048.2	37	c.123	CCDS6606.1	9																																																																																			MELK	-	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		0.333	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MELK	HGNC	protein_coding	OTTHUMT00000052428.3	C	NM_014791		36583688	1	no_errors	ENST00000298048	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36583688	C	T	36583688	2	4	111	1	0	0	0	0	0	0	0	1	9493	816	29	1		1	MELK	9	36583688	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4040865	36583688	104629743	113	16746										
TJP2	9414	genome.wustl.edu	37	chr9	71789346	71789346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gggagctgtcaggttggctcCgcgtaagtgcctccttgtgc	15	11	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:71789346C>T	ENST00000377245.4	+	1	266	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	TJP2_ENST00000348208.4_Missense_Mutation_p.R20C|TJP2_ENST00000265384.7_Missense_Mutation_p.R20C|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000377259.1_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	20					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGGTTGGCTCCGCGTAAGTGC	0.697																																																	0													27	27	27					9																	71789346		2059	4041	6100	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.58C>T	9.37:g.71789346C>T	ENSP00000366453:p.Arg20Cys		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.R20C	ENST00000377245.4	37	c.58	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839220	0.71373	.	.	ENSG00000119139	ENST00000377245;ENST00000348208;ENST00000265384	T;T;T	0.09723	2.95;2.95;2.96	5.27	5.27	0.74061	PDZ/DHR/GLGF (1);	1.160740	0.06510	N	0.737911	T	0.09555	0.0235	N	0.08118	0	0.80722	D	1	D;P;D	0.60575	0.968;0.946;0.988	B;B;B	0.43783	0.431;0.249;0.429	T	0.36261	-0.9755	10	0.72032	D	0.01	.	14.3944	0.67001	0.0:1.0:0.0:0.0	.	20;20;20	Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;ZO2_HUMAN;.	C	20	ENSP00000366453:R20C;ENSP00000345893:R20C;ENSP00000265384:R20C	ENSP00000265384:R20C	R	+	1	0	TJP2	70979166	0.016000	0.18221	0.491000	0.27477	0.895000	0.52256	3.271000	0.51608	2.446000	0.82766	0.467000	0.42956	CGC	TJP2	-	superfamily_PDZ		0.697	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71789346	1	no_errors	ENST00000377245	ensembl	human	known	70_37	missense	SNP	0.842	T	T	71789346	C	T	71789346	3	4	111	1	0	0	0	0	1	0	0	0	15960	652	23	2	60	2	TJP2	9	71789346	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	35205658	71789346	69424085	114	16747										
TRPM6	140803	genome.wustl.edu	37	chr9	77339658	77339658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggggaatagtcatttcttttTaaatctgcaaggaggacaag	11	5	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:77339658T>G	ENST00000360774.1	-	39	6177	c.5940A>C	c.(5938-5940)ttA>ttC	p.L1980F	TRPM6_ENST00000376872.3_Missense_Mutation_p.L935F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1975F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1975F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1984F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L817F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1980	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATTTCTTTTTAAATCTGCAA	0.418																																																	0													86	91	89					9																	77339658		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5940A>C	9.37:g.77339658T>G	ENSP00000354006:p.Leu1980Phe		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L1984F	ENST00000360774.1	37	c.5952	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	T	19.77	3.890052	0.72524	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.69	0.402	0.16344	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.327889	0.27577	N	0.018758	T	0.19208	0.0461	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.923;0.99;0.994;0.994;0.996;0.998	T	0.01894	-1.1252	10	0.56958	D	0.05	.	4.4933	0.11824	0.0:0.2828:0.3121:0.4051	.	527;813;931;1980;1975;1975	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	F	1980;1984;935;817;1975;1975;526	ENSP00000354006:L1980F;ENSP00000407341:L1984F;ENSP00000366068:L935F;ENSP00000366067:L817F;ENSP00000396672:L1975F;ENSP00000354962:L1975F	ENSP00000354006:L1980F	L	-	3	2	TRPM6	76529478	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.495000	0.22483	0.417000	0.25871	0.533000	0.62120	TTA	TRPM6	-	superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	T	NM_017662		77339658	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	missense	SNP	0.999	G	G	77339658	T	G	77339658	3	3	111	1	0	0	0	0	1	0	0	0	16621	1751	61	5	132	5	TRPM6	9	77339658	Missense_Mutation	SNP	T	TCGA-EK-A2RK-01A-11D-A18J-09	5550312	77339658	63873773	115	16748										
OR13C9	286362	genome.wustl.edu	37	chr9	107380216	107380216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagccagaaaaggaaatggtCtttctttctgaaaggaagct	10	7	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:107380216C>G	ENST00000259362.1	-	1	269	c.270G>C	c.(268-270)aaG>aaC	p.K90N		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGGAAATGGTCTTTCTTTCTG	0.507																																																	0													134	138	137					9																	107380216		2203	4300	6503	SO:0001583	missense	286362				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.270G>C	9.37:g.107380216C>G	ENSP00000259362:p.Lys90Asn		Q6IFL2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K90N	ENST00000259362.1	37	c.270	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590321	0.28357	.	.	ENSG00000136839	ENST00000259362	T	0.38240	1.15	4.78	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000085	T	0.29914	0.0748	L	0.55103	1.725	0.21386	N	0.999708	P	0.35745	0.518	B	0.34093	0.175	T	0.28364	-1.0046	10	0.87932	D	0	.	7.6626	0.28413	0.0:0.7673:0.0:0.2327	.	90	Q8NGT0	O13C9_HUMAN	N	90	ENSP00000259362:K90N	ENSP00000259362:K90N	K	-	3	2	OR13C9	106420037	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.539000	0.06113	1.210000	0.43336	0.637000	0.83480	AAG	OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	C			107380216	-1	no_errors	ENST00000259362	ensembl	human	known	70_37	missense	SNP	0.946	G	G	107380216	C	G	107380216	3	3	111	1	0	0	0	0	1	0	0	0	10963	912	32	1	689	1	OR13C9	9	107380216	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	30040558	107380216	33833215	116	16749										
CEP110	11064	genome.wustl.edu	37	chr9	123907225	123907225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgcagaatctcctcaggcaGaagggggagcaggtcagtgt	15	9	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:123907225G>A	ENST00000373855.1	+	21	3416	c.3156G>A	c.(3154-3156)caG>caA	p.Q1052Q	CNTRL_ENST00000373850.1_Silent_p.Q500Q|CNTRL_ENST00000238341.5_Silent_p.Q1052Q|CNTRL_ENST00000373847.1_Silent_p.Q500Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1052					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TCCTCAGGCAGAAGGGGGAGC	0.493																																																	0													81	83	82					9																	123907225		2203	4300	6503	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3156G>A	9.37:g.123907225G>A			A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.Q1052	ENST00000373855.1	37	c.3156	CCDS35118.1	9																																																																																			CNTRL	-	NULL		0.493	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123907225	1	no_errors	ENST00000238341	ensembl	human	known	70_37	silent	SNP	0.854	A	A	123907225	G	A	123907225	2	1	111	1	0	0	0	0	0	0	0	1	3250	933	33	1		1	CEP110	9	123907225	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	16527009	123907225	17306206	117	16750										
LHX6	26468	genome.wustl.edu	37	chr9	124979434	124979434	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctcgaccaggccgaactcctCaccagtggacagctggcgct	11	16	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:124979434C>A	ENST00000373755.2	-	4	616	c.508G>T	c.(508-510)Gag>Tag	p.E170*	LHX6_ENST00000541397.2_Nonsense_Mutation_p.E188*|LHX6_ENST00000340587.3_Nonsense_Mutation_p.E199*|LHX6_ENST00000394319.4_Nonsense_Mutation_p.E199*|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Nonsense_Mutation_p.E170*	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	170	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						CCGAACTCCTCACCAGTGGAC	0.627																																																	0													90	80	84					9																	124979434		2203	4300	6503	SO:0001587	stop_gained	26468			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.508G>T	9.37:g.124979434C>A	ENSP00000362860:p.Glu170*		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.E199*	ENST00000373755.2	37	c.595	CCDS56583.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.258169	0.97417	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	.	.	.	X	170;170;199;199;188	.	ENSP00000340137:E199X	E	-	1	0	LHX6	124019255	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.781000	0.95711	0.655000	0.94253	GAG	LHX6	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.627	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	C	NM_014368		124979434	-1	no_errors	ENST00000394319	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	124979434	C	A	124979434	4	1	111	1	0	0	0	0	0	1	0	0	8795	835	29	3	666	3	LHX6	9	124979434	Nonsense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1072209	124979434	16233997	118	16751										
SCAI	286205	genome.wustl.edu	37	chr9	127765467	127765467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagatacttgtgggggttttCtcgtctagtaggcttgtcag	13	7	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:127765467C>G	ENST00000336505.6	-	11	1049	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E354Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	331					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGGGGTTTTCTCGTCTAGTA	0.363																																																	0													270	254	259					9																	127765467		1858	4102	5960	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.991G>C	9.37:g.127765467C>G	ENSP00000336756:p.Glu331Gln		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.E354Q	ENST00000336505.6	37	c.1060	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276725	0.80580	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.45668	0.9;0.89	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.72894	2.215	0.58432	D	0.999995	D;D	0.67145	0.991;0.996	D;D	0.76575	0.988;0.986	T	0.58999	-0.7536	10	0.32370	T	0.25	-16.3426	19.1267	0.93388	0.0:1.0:0.0:0.0	.	331;354	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	331;354	ENSP00000336756:E331Q;ENSP00000362650:E354Q	ENSP00000336756:E331Q	E	-	1	0	SCAI	126805288	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.487000	0.81328	2.767000	0.95098	0.561000	0.74099	GAA	SCAI	-	pfam_DUF3550,pirsf_UCP013022		0.363	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	C	NM_173690		127765467	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127765467	C	G	127765467	3	3	111	1	0	0	0	0	1	0	0	0	13899	922	32	1	861	1	SCAI	9	127765467	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2786033	127765467	13447964	119	16752										
CIZ1	25792	genome.wustl.edu	37	chr9	130950164	130950164	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agtgttgctgtgggcatggtGagaccggcagtgtcatacgt	16	7	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:130950164G>C	ENST00000393608.1	-	4	538	c.336C>G	c.(334-336)ctC>ctG	p.L112L	CIZ1_ENST00000325721.8_Intron|CIZ1_ENST00000372938.5_Silent_p.L112L|CIZ1_ENST00000357558.5_Silent_p.L112L|CIZ1_ENST00000372948.3_Silent_p.L112L|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000541172.1_Silent_p.L11L|CIZ1_ENST00000277465.4_Silent_p.L112L|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_Silent_p.L112L	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	112					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgggcatggtgagaccggcag	0.383																																																	0													105	93	97					9																	130950164		2203	4300	6503	SO:0001819	synonymous_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.336C>G	9.37:g.130950164G>C			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.L112	ENST00000393608.1	37	c.336	CCDS6894.1	9																																																																																			CIZ1	-	NULL		0.383	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	G	NM_012127		130950164	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	silent	SNP	1.000	C	C	130950164	G	C	130950164	2	2	111	1	0	0	0	0	0	0	0	1	3446	1277	45	1		1	CIZ1	9	130950164	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3184697	130950164	10263267	120	16753										
VAV2	7410	genome.wustl.edu	37	chr9	136857230	136857230	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggccggaagttgatgtccttGaggtcgatggagccggggga	19	7	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:136857230G>C	ENST00000371850.3	-	1	202	c.171C>G	c.(169-171)ctC>ctG	p.L57L	VAV2_ENST00000371851.1_Silent_p.L57L|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Silent_p.L57L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	57	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGATGTCCTTGAGGTCGATGG	0.721																																																	0													18	18	18					9																	136857230		2197	4295	6492	SO:0001819	synonymous_variant	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.171C>G	9.37:g.136857230G>C			A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.L57	ENST00000371850.3	37	c.171	CCDS48053.1	9																																																																																			VAV2	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.721	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	G			136857230	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	silent	SNP	1.000	C	C	136857230	G	C	136857230	2	2	111	1	0	0	0	0	0	0	0	1	17163	1277	45	1		1	VAV2	9	136857230	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	5907066	136857230	4356201	121	16754										
VAV2	7410	genome.wustl.edu	37	chr9	136857321	136857321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccaggtcgaagaccacggccGagggccacaccacccggtgg	14	16	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:136857321G>C	ENST00000371850.3	-	1	111	c.80C>G	c.(79-81)tCg>tGg	p.S27W	VAV2_ENST00000371851.1_Missense_Mutation_p.S27W|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Missense_Mutation_p.S27W	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	27	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GACCACGGCCGAGGGCCACAC	0.711																																																	0													17	17	17					9																	136857321		2189	4290	6479	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.80C>G	9.37:g.136857321G>C	ENSP00000360916:p.Ser27Trp		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.S27W	ENST00000371850.3	37	c.80	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991715	0.74703	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.60424	0.19;0.19;0.19	3.55	3.55	0.40652	Calponin homology domain (5);	0.000000	0.42548	U	0.000693	T	0.72550	0.3474	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.99	T	0.76724	-0.2854	10	0.72032	D	0.01	.	14.0543	0.64756	0.0:0.0:1.0:0.0	.	27;27	P52735;P52735-3	VAV2_HUMAN;.	W	27	ENSP00000360916:S27W;ENSP00000360917:S27W;ENSP00000385362:S27W	ENSP00000317258:S27W	S	-	2	0	VAV2	135847142	1.000000	0.71417	0.979000	0.43373	0.758000	0.43043	5.633000	0.67825	1.521000	0.48983	0.185000	0.17295	TCG	VAV2	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.711	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	G			136857321	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136857321	G	C	136857321	3	2	111	1	0	0	0	0	1	0	0	0	17163	1059	37	1	2676	1	VAV2	9	136857321	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	91	136857321	4356110	122	16755										
NACC2	138151	genome.wustl.edu	37	chr9	138903634	138903634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggcggcgtcgccccgccgctCggcgtagatgcgttgctcga	16	15	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:138903634C>T	ENST00000371753.1	-	5	1550	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	NACC2_ENST00000277554.2_Missense_Mutation_p.E498K			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	498					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCCCGCCGCTCGGCGTAGATG	0.706																																																	0													7	8	7					9																	138903634		2145	4200	6345	SO:0001583	missense	138151			BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1492G>A	9.37:g.138903634C>T	ENSP00000360818:p.Glu498Lys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E498K	ENST00000371753.1	37	c.1492	CCDS6993.1	9	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012228	0.54468	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.68903	-0.36;-0.36	5.13	5.13	0.70059	.	0.139194	0.46145	D	0.000314	T	0.50531	0.1621	N	0.24115	0.695	0.40210	D	0.977616	P	0.49635	0.926	B	0.33960	0.173	T	0.63409	-0.6644	10	0.87932	D	0	.	17.5547	0.87887	0.0:1.0:0.0:0.0	.	498	Q96BF6	NACC2_HUMAN	K	498	ENSP00000360818:E498K;ENSP00000277554:E498K	ENSP00000277554:E498K	E	-	1	0	NACC2	138043455	0.990000	0.36364	0.900000	0.35374	0.148000	0.21650	5.193000	0.65120	2.384000	0.81235	0.313000	0.20887	GAG	NACC2	-	NULL		0.706	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACC2	HGNC	protein_coding	OTTHUMT00000055040.1	C	NM_144653		138903634	-1	no_errors	ENST00000277554	ensembl	human	known	70_37	missense	SNP	0.992	T	T	138903634	C	T	138903634	3	4	111	1	0	0	0	0	1	0	0	0	10159	893	31	1	275	1	NACC2	9	138903634	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2046313	138903634	2309797	123	16756										
CARD9	64170	genome.wustl.edu	37	chr9	139264763	139264763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tacccggaggcgtcgggcctCgccctggcggaggtccttgc	16	15	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:139264763C>T	ENST00000371732.5	-	6	1099	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CARD9_ENST00000371734.3_Missense_Mutation_p.E312K|CARD9_ENST00000315908.7_Missense_Mutation_p.E312K|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	312					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGTCGGGCCTCGCCCTGGCGG	0.701																																																	0													26	31	29					9																	139264763		2189	4295	6484	SO:0001583	missense	64170			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.934G>A	9.37:g.139264763C>T	ENSP00000360797:p.Glu312Lys		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.E312K	ENST00000371732.5	37	c.934	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885268	0.72410	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.37235	1.21;1.21;1.21	4.11	4.11	0.48088	.	0.064020	0.64402	D	0.000012	T	0.37517	0.1006	M	0.76170	2.325	0.80722	D	1	D;P;P	0.55605	0.972;0.859;0.78	B;B;B	0.38954	0.286;0.118;0.055	T	0.47018	-0.9149	10	0.37606	T	0.19	-35.6659	15.0576	0.71927	0.0:1.0:0.0:0.0	.	208;312;312	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	K	312	ENSP00000360799:E312K;ENSP00000360797:E312K;ENSP00000323719:E312K	ENSP00000323719:E312K	E	-	1	0	CARD9	138384584	0.999000	0.42202	0.872000	0.34217	0.924000	0.55760	4.608000	0.61141	2.124000	0.65301	0.462000	0.41574	GAG	CARD9	-	NULL		0.701	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	C	NM_052813		139264763	-1	no_errors	ENST00000371732	ensembl	human	known	70_37	missense	SNP	0.999	T	T	139264763	C	T	139264763	3	4	111	1	0	0	0	0	1	0	0	0	2657	893	31	1	761	1	CARD9	9	139264763	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	361129	139264763	1948668	124	16757										
TRAF2	7186	genome.wustl.edu	37	chr9	139804386	139804386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttgaaggcgcaccacgaggtCtgccccaagttccccttaac	9	15	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr9:139804386C>T	ENST00000247668.2	+	6	595	c.543C>T	c.(541-543)gtC>gtT	p.V181V	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Silent_p.V181V|TRAF2_ENST00000359662.3_Silent_p.V233V	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	181					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACCACGAGGTCTGCCCCAAGT	0.637																																																	0													106	82	90					9																	139804386		2203	4300	6503	SO:0001819	synonymous_variant	7186			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.543C>T	9.37:g.139804386C>T			A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V233	ENST00000247668.2	37	c.699	CCDS7013.1	9																																																																																			TRAF2	-	pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.637	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	HGNC	protein_coding	OTTHUMT00000055166.1	C	NM_021138		139804386	1	no_errors	ENST00000359662	ensembl	human	known	70_37	silent	SNP	1.000	T	T	139804386	C	T	139804386	2	4	111	1	0	0	0	0	0	0	0	1	16469	900	32	1		1	TRAF2	9	139804386	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	539623	139804386	1409045	125	16758										
C10orf128	170371	genome.wustl.edu	37	chr10	50375960	50375960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gggcagccacgtaccaatttCagccccaggggtcttgcctg	12	14	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr10:50375960C>T	ENST00000474718.1	-	2	113	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374148.1_Missense_Mutation_p.E31K|C10orf128_ENST00000374151.3_Missense_Mutation_p.E31K|C10orf128_ENST00000374153.2_Missense_Mutation_p.E31K	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	31						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						GTACCAATTTCAGCCCCAGGG	0.567																																																	0													118	124	122					10																	50375960		1966	4148	6114	SO:0001583	missense	170371			BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.91G>A	10.37:g.50375960C>T	ENSP00000417246:p.Glu31Lys		A6XND2|Q5T289|Q5T291	Missense_Mutation	SNP	NULL	p.E31K	ENST00000474718.1	37	c.91	CCDS41519.1	10	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505050	0.44558	.	.	ENSG00000204161	ENST00000374153;ENST00000474718;ENST00000453436;ENST00000374149;ENST00000374151;ENST00000374148	T;T;T;T;T	0.59083	0.33;0.4;0.32;0.29;0.29	4.59	4.59	0.56863	.	.	.	.	.	T	0.65709	0.2717	L	0.32530	0.975	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.979;0.998	D;D;P;D	0.72338	0.948;0.977;0.801;0.929	T	0.57394	-0.7819	9	0.87932	D	0	.	12.7548	0.57328	0.0:1.0:0.0:0.0	.	31;31;31;31	Q5T292-2;Q5T292-3;Q5T292;Q5T292-4	.;.;CJ128_HUMAN;.	K	31;31;23;25;31;31	ENSP00000363268:E31K;ENSP00000417246:E31K;ENSP00000395067:E23K;ENSP00000363266:E31K;ENSP00000363263:E31K	ENSP00000363263:E31K	E	-	1	0	C10orf128	50045966	0.258000	0.24033	0.018000	0.16275	0.025000	0.11179	3.224000	0.51238	2.367000	0.80283	0.650000	0.86243	GAA	C10orf128	-	NULL		0.567	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf128	HGNC	protein_coding	OTTHUMT00000047978.1	C	NM_001010863		50375960	-1	no_errors	ENST00000374151	ensembl	human	known	70_37	missense	SNP	0.038	T	T	50375960	C	T	50375960	3	4	111	1	0	0	0	0	1	0	0	0	1596	835	29	1	246	1	C10orf128	10	50375960	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		50375960	85158787	126	16759										
PTEN	5728	genome.wustl.edu	37	chr10	89717729	89717729	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agccgttacctgtgtgtggtGatatcaaagtagagttcttc	11	7	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr10:89717729G>A	ENST00000371953.3	+	7	2111	c.754G>A	c.(754-756)Gat>Aat	p.D252N	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	252	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		D -> G (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.D252Y(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGTGTGGTGATATCAAAGT	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(4)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(1)											120	106	111					10																	89717729		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.754G>A	10.37:g.89717729G>A	ENSP00000361021:p.Asp252Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D252N	ENST00000371953.3	37	c.754	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.467929	0.96257	.	.	ENSG00000171862	ENST00000371953	D	0.99207	-5.56	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092939	0.64402	D	0.000001	D	0.99399	0.9788	M	0.85542	2.76	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	D	0.98974	1.0802	9	.	.	.	-9.9468	18.6161	0.91303	0.0:0.0:1.0:0.0	.	252	P60484	PTEN_HUMAN	N	252	ENSP00000361021:D252N	.	D	+	1	0	PTEN	89707709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.429000	0.97481	2.380000	0.81148	0.585000	0.79938	GAT	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89717729	1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89717729	G	A	89717729	3	1	111	1	0	0	0	0	1	0	0	0	12765	1290	45	1	780	1	PTEN	10	89717729	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	39341769	89717729	45817018	127	16760										
PTEN	5728	genome.wustl.edu	37	chr10	89720783	89720783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtatagagcgtgcagataatGacaaggaatatctagtactt	10	5	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr10:89720783G>A	ENST00000371953.3	+	8	2291	c.934G>A	c.(934-936)Gac>Aac	p.D312N	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	312	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGATAATGACAAGGAATA	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											104	102	103					10																	89720783		2203	4299	6502	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.934G>A	10.37:g.89720783G>A	ENSP00000361021:p.Asp312Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D312N	ENST00000371953.3	37	c.934	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318835	0.60524	.	.	ENSG00000171862	ENST00000371953	D	0.94537	-3.45	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	L	0.31065	0.9	0.80722	D	1	P	0.35493	0.505	B	0.42319	0.383	D	0.90522	0.4489	9	.	.	.	-9.1918	18.5632	0.91108	0.0:0.0:1.0:0.0	.	312	P60484	PTEN_HUMAN	N	312	ENSP00000361021:D312N	.	D	+	1	0	PTEN	89710763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.369000	0.97156	2.399000	0.81585	0.591000	0.81541	GAC	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89720783	1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89720783	G	A	89720783	3	1	111	1	0	0	0	0	1	0	0	0	12765	1290	45	1	964	1	PTEN	10	89720783	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3054	89720783	45813964	128	16761										
MUC2	4583	genome.wustl.edu	37	chr11	1095260	1095260	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aacacccacgccctccaagtCgacgcccacgccttccaagc	6	21	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:1095260C>G	ENST00000441003.2	+	32	6107	c.6080C>G	c.(6079-6081)tCg>tGg	p.S2027W	MUC2_ENST00000361558.6_Missense_Mutation_p.S165W|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4389					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCTCCAAGTCGACGCCCACG	0.612																																																	0													76	97	90					11																	1095260		2130	4220	6350	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6080C>G	11.37:g.1095260C>G	ENSP00000415183:p.Ser2027Trp		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2027W	ENST00000441003.2	37	c.6080		11	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679874	0.29783	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.44881	2.52;0.91	2.72	1.72	0.24424	.	.	.	.	.	T	0.47875	0.1469	M	0.62723	1.935	0.09310	N	1	P	0.50819	0.939	P	0.51701	0.677	T	0.33979	-0.9847	9	0.72032	D	0.01	.	7.1439	0.25573	0.0:0.7176:0.2824:0.0	.	2027	E7EUV1	.	W	2027;165	ENSP00000415183:S2027W;ENSP00000354885:S165W	ENSP00000354885:S165W	S	+	2	0	MUC2	1085260	0.387000	0.25188	0.000000	0.03702	0.005000	0.04900	3.682000	0.54656	0.404000	0.25506	0.491000	0.48974	TCG	MUC2	-	NULL		0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	C	NM_002457		1095260	1	no_errors	ENST00000441003	ensembl	human	known	70_37	missense	SNP	0.001	G	G	1095260	C	G	1095260	3	3	111	1	0	0	0	0	1	0	0	0	9998	893	31	1	6198	1	MUC2	11	1095260	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		1095260	133911256	129	16762										
MUC5B	727897	genome.wustl.edu	37	chr11	1261581	1261581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgccattcaccttcaccaccGcctgggtcccccactccacg	6	22	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:1261581G>A	ENST00000529681.1	+	30	4004	c.3946G>A	c.(3946-3948)Gcc>Acc	p.A1316T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A1319T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1316					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCACCACCGCCTGGGTCCC	0.622																																																	0													87	97	93					11																	1261581		2090	4213	6303	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3946G>A	11.37:g.1261581G>A	ENSP00000436812:p.Ala1316Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A1319T	ENST00000529681.1	37	c.3955	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322901	0.23994	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15487	2.42;2.61	4.5	-1.86	0.07760	.	.	.	.	.	T	0.03871	0.0109	N	0.00368	-1.59	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.06405	0.002;0.002	T	0.38972	-0.9636	9	0.87932	D	0	.	5.9718	0.19357	0.4827:0.0:0.3922:0.1251	.	2009;1319	A7Y9J9;E9PBJ0	.;.	T	1316;1319;1317;1386	ENSP00000436812:A1316T;ENSP00000415793:A1319T	ENSP00000343037:A1317T	A	+	1	0	MUC5B	1218157	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.271000	0.18626	-0.430000	0.07318	-1.598000	0.00824	GCC	MUC5B	-	NULL		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1261581	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1261581	G	A	1261581	3	1	111	1	0	0	0	0	1	0	0	0	10002	1087	38	2	4073	2	MUC5B	11	1261581	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	166321	1261581	133744935	130	16763										
DUSP8	1850	genome.wustl.edu	37	chr11	1580137	1580137	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	accttgtttaggacgtccttCtgcgagcccaggtagaggtg	13	10	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:1580137C>T	ENST00000397374.3	-	4	646	c.519G>A	c.(517-519)caG>caA	p.Q173Q	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.Q173Q	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	173	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGACGTCCTTCTGCGAGCCCA	0.652																																																	0													132	111	118					11																	1580137		2202	4299	6501	SO:0001819	synonymous_variant	1850				CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.519G>A	11.37:g.1580137C>T			Q86SS8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.Q173	ENST00000397374.3	37	c.519	CCDS7724.1	11																																																																																			DUSP8	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.652	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP8	HGNC	protein_coding	OTTHUMT00000257178.3	C	NM_004420		1580137	-1	no_errors	ENST00000331588	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1580137	C	T	1580137	2	4	111	1	0	0	0	0	0	0	0	1	4841	912	32	1		1	DUSP8	11	1580137	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	318556	1580137	133426379	131	16764										
DUSP8	1850	genome.wustl.edu	37	chr11	1580215	1580215	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggcagggctgggagaggctCatgggtagcagggcagcagg	21	7	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:1580215C>T	ENST00000397374.3	-	4	568	c.441G>A	c.(439-441)atG>atA	p.M147I	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.M147I	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	147					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGGAGAGGCTCATGGGTAGCA	0.657																																																	0													58	49	52					11																	1580215		2201	4299	6500	SO:0001583	missense	1850				CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.441G>A	11.37:g.1580215C>T	ENSP00000380530:p.Met147Ile		Q86SS8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.M147I	ENST00000397374.3	37	c.441	CCDS7724.1	11	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441494	0.25900	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.02177	4.41;4.41	4.34	3.42	0.39159	.	0.060594	0.64402	U	0.000004	T	0.02342	0.0072	L	0.44542	1.39	0.35517	D	0.801116	B	0.29378	0.243	B	0.23275	0.045	T	0.45775	-0.9238	10	0.49607	T	0.09	.	7.5112	0.27575	0.1636:0.7517:0.0:0.0847	.	147	Q13202	DUS8_HUMAN	I	147	ENSP00000380530:M147I;ENSP00000329539:M147I	ENSP00000329539:M147I	M	-	3	0	DUSP8	1536791	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	2.771000	0.47670	1.047000	0.40274	-0.275000	0.10095	ATG	DUSP8	-	NULL		0.657	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP8	HGNC	protein_coding	OTTHUMT00000257178.3	C	NM_004420		1580215	-1	no_errors	ENST00000331588	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1580215	C	T	1580215	3	4	111	1	0	0	0	0	1	0	0	0	4841	826	29	1	1452	1	DUSP8	11	1580215	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	78	1580215	133426301	132	16765										
OR5T3	390154	genome.wustl.edu	37	chr11	56020507	56020507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtggctctcacctaactggaGtgacaatttatcatggaaca	9	9	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:56020507G>A	ENST00000303059.3	+	1	832	c.832G>A	c.(832-834)Gtg>Atg	p.V278M		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CCTAACTGGAGTGACAATTTA	0.403																																																	0													192	172	179					11																	56020507		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.832G>A	11.37:g.56020507G>A	ENSP00000305403:p.Val278Met		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V278M	ENST00000303059.3	37	c.832	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	9.702	1.154835	0.21371	.	.	ENSG00000172489	ENST00000303059	T	0.00364	7.81	4.46	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000668	T	0.01661	0.0053	H	0.98238	4.18	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.17653	-1.0362	10	0.87932	D	0	.	10.4437	0.44481	0.0:0.129:0.6039:0.2671	.	278	Q8NGG3	OR5T3_HUMAN	M	278	ENSP00000305403:V278M	ENSP00000305403:V278M	V	+	1	0	OR5T3	55777083	0.008000	0.16893	0.020000	0.16555	0.193000	0.23685	0.095000	0.15127	0.582000	0.29556	0.643000	0.83706	GTG	OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	G	NM_001004747		56020507	1	no_errors	ENST00000303059	ensembl	human	known	70_37	missense	SNP	0.001	A	A	56020507	G	A	56020507	3	1	111	1	0	0	0	0	1	0	0	0	11207	1029	36	4	834	4	OR5T3	11	56020507	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	54440292	56020507	78986009	133	16766										
ATL3	25923	genome.wustl.edu	37	chr11	63403049	63403049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gcagatcttctccttgataaAttttaatatatgccttaaaa	4	7	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:63403049A>G	ENST00000398868.3	-	10	1268	c.992T>C	c.(991-993)aTt>aCt	p.I331T	ATL3_ENST00000332645.4_Missense_Mutation_p.I358T|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.I313T	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	331					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TCCTTGATAAATTTTAATATA	0.308											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97	90	92					11																	63403049		1821	4086	5907	SO:0001583	missense	25923				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.992T>C	11.37:g.63403049A>G	ENSP00000381844:p.Ile331Thr	1068	Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.I358T	ENST00000398868.3	37	c.1073	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892829	0.72524	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.01629	4.72;4.72;4.72	4.78	4.78	0.61160	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	M	0.87097	2.86	0.80722	D	1	P	0.35628	0.513	P	0.59424	0.857	T	0.00010	-1.2457	10	0.87932	D	0	-19.4355	12.5687	0.56323	1.0:0.0:0.0:0.0	.	331	Q6DD88	ATLA3_HUMAN	T	331;358;313	ENSP00000381844:I331T;ENSP00000329034:I358T;ENSP00000437593:I313T	ENSP00000329034:I358T	I	-	2	0	ATL3	63159625	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.317000	0.96327	1.910000	0.55303	0.528000	0.53228	ATT	ATL3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.308	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1	A	NM_015459		63403049	-1	no_errors	ENST00000332645	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63403049	A	G	63403049	3	3	111	1	0	0	0	0	1	0	0	0	1109	101	4	5	649	5	ATL3	11	63403049	Missense_Mutation	SNP	A	TCGA-EK-A2RK-01A-11D-A18J-09	7382542	63403049	71603467	134	16767										
BAD	572	genome.wustl.edu	37	chr11	64039170	64039170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agaggttggggggcgccgagCgcgagcggccccgaaagggg	22	10	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:64039170C>T	ENST00000394532.3	-	2	563	c.293G>A	c.(292-294)cGc>cAc	p.R98H	BAD_ENST00000394531.3_Missense_Mutation_p.A145T|BAD_ENST00000544785.1_Intron|BAD_ENST00000309032.3_Missense_Mutation_p.R98H	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	98					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGGCGCCGAGCGCGAGCGGCC	0.692																																																	0													19	18	18					11																	64039170		2174	4252	6426	SO:0001583	missense	572			AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.293G>A	11.37:g.64039170C>T	ENSP00000378040:p.Arg98His		O14803|Q6FH21	Missense_Mutation	SNP	pfam_Bcl-2_BAD	p.R98H	ENST00000394532.3	37	c.293	CCDS8065.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.825561|4.825561	0.90955|0.90955	.|.	.|.	ENSG00000002330|ENSG00000002330	ENST00000394531|ENST00000394532;ENST00000540152;ENST00000309032;ENST00000493798;ENST00000492141	.|T;T;T;T	.|0.60548	.|0.18;0.18;0.18;0.18	5.72|5.72	3.78|3.78	0.43462|0.43462	.|.	.|0.124246	.|0.51477	.|D	.|0.000093	T|T	0.60196|0.60196	0.2250|0.2250	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.52031	.|0.688	T|T	0.63019|0.63019	-0.6730|-0.6730	6|10	0.87932|0.72032	D|D	0|0.01	-6.32|-6.32	6.5862|6.5862	0.22622|0.22622	0.1941:0.7158:0.0:0.0901|0.1941:0.7158:0.0:0.0901	.|.	.|98	.|Q92934	.|BAD_HUMAN	T|H	145|98;98;98;13;13	.|ENSP00000378040:R98H;ENSP00000309103:R98H;ENSP00000438975:R13H;ENSP00000439202:R13H	ENSP00000378039:A145T|ENSP00000309103:R98H	A|R	-|-	1|2	0|0	BAD|BAD	63795746|63795746	0.687000|0.687000	0.27671|0.27671	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.599000|0.599000	0.24089|0.24089	1.340000|1.340000	0.45581|0.45581	0.561000|0.561000	0.74099|0.74099	GCT|CGC	BAD	-	pfam_Bcl-2_BAD		0.692	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BAD	HGNC	protein_coding	OTTHUMT00000259180.2	C	NM_032989		64039170	-1	no_errors	ENST00000309032	ensembl	human	known	70_37	missense	SNP	0.991	T	T	64039170	C	T	64039170	3	4	111	1	0	0	0	0	1	0	0	0	1286	768	27	2	221	2	BAD	11	64039170	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	636121	64039170	70967346	135	16768										
POLD3	10714	genome.wustl.edu	37	chr11	74329661	74329661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cttccaaaaagtttgagcagTcacatcttcacatgtcaagt	6	10	4	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:74329661T>C	ENST00000263681.2	+	6	601	c.472T>C	c.(472-474)Tca>Cca	p.S158P	POLD3_ENST00000527458.1_Missense_Mutation_p.S119P|POLD3_ENST00000532497.1_Missense_Mutation_p.S52P	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	158					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GTTTGAGCAGTCACATCTTCA	0.493																																																	0													115	111	112					11																	74329661		2200	4293	6493	SO:0001583	missense	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.472T>C	11.37:g.74329661T>C	ENSP00000263681:p.Ser158Pro		B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.S158P	ENST00000263681.2	37	c.472	CCDS8233.1	11	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638522	0.29157	.	.	ENSG00000077514	ENST00000263681;ENST00000527458;ENST00000532497;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.44	0.078	0.14410	.	1.092320	0.06895	N	0.804866	T	0.33585	0.0868	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29579	-1.0007	8	.	.	.	-2.8088	1.4807	0.02436	0.2615:0.0826:0.2966:0.3593	.	158	Q15054	DPOD3_HUMAN	P	158;119;52;158;119;119	.	.	S	+	1	0	POLD3	74007309	0.912000	0.30974	0.145000	0.22337	0.812000	0.45895	1.098000	0.31000	0.118000	0.18165	0.482000	0.46254	TCA	POLD3	-	pfam_DNA_polymerase_subunit_Cdc27		0.493	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	T	NM_006591		74329661	1	no_errors	ENST00000263681	ensembl	human	known	70_37	missense	SNP	0.000	C	C	74329661	T	C	74329661	3	2	111	1	0	0	0	0	1	0	0	0	12216	1667	58	5	494	5	POLD3	11	74329661	Missense_Mutation	SNP	T	TCGA-EK-A2RK-01A-11D-A18J-09	10290491	74329661	60676855	136	16769										
ALG8	79053	genome.wustl.edu	37	chr11	77823804	77823804	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaagagtcgggaaaagacttGaggcagctgattctgttgaa	13	5	1	5			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:77823804G>C	ENST00000299626.5	-	8	861	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.Q264E	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	264					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GAAAAGACTTGAGGCAGCTGA	0.403																																																	0													63	62	62					11																	77823804		2200	4292	6492	SO:0001583	missense	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.790C>G	11.37:g.77823804G>C	ENSP00000299626:p.Gln264Glu		A6NDW6|O60860	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.Q264E	ENST00000299626.5	37	c.790	CCDS8258.1	11	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014672	0.93404	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000532440;ENST00000525755;ENST00000530454	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	M	0.91300	3.195	0.80722	D	1	P;D;D	0.89917	0.933;1.0;1.0	P;D;D	0.87578	0.854;0.998;0.998	D	0.95598	0.8660	10	0.72032	D	0.01	-8.9404	19.8002	0.96504	0.0:0.0:1.0:0.0	.	264;264;264	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	E	264;264;82;213;265	ENSP00000299626:Q264E;ENSP00000365326:Q264E;ENSP00000433429:Q82E;ENSP00000435467:Q213E;ENSP00000434660:Q265E	ENSP00000299626:Q264E	Q	-	1	0	ALG8	77501452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.094000	0.94168	2.674000	0.91012	0.655000	0.94253	CAA	ALG8	-	pfam_Glyco_trans_ALG6/ALG8		0.403	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	G	NM_024079		77823804	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77823804	G	C	77823804	3	2	111	1	0	0	0	0	1	0	0	0	523	1299	45	1	873	1	ALG8	11	77823804	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3494143	77823804	57182712	137	16770										
KIAA1377	57562	genome.wustl.edu	37	chr11	101818816	101818816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cctcaaacaaattcaggaatCcaacttaaaatcagaagtaa	4	9	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr11:101818816C>A	ENST00000263468.8	+	4	719	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	150										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTCAGGAATCCAACTTAAAA	0.343																																																	0													89	87	88					11																	101818816		2203	4299	6502	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.449C>A	11.37:g.101818816C>A	ENSP00000263468:p.Ser150Tyr		Q4G0U6	Missense_Mutation	SNP	NULL	p.S150Y	ENST00000263468.8	37	c.449	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988578	0.53934	.	.	ENSG00000110318	ENST00000263468	T	0.10573	2.86	5.4	3.51	0.40186	.	0.220870	0.38605	N	0.001632	T	0.21881	0.0527	M	0.76002	2.32	0.80722	D	1	P	0.52842	0.956	P	0.54100	0.742	T	0.00975	-1.1494	10	0.66056	D	0.02	-0.134	7.9759	0.30155	0.0:0.7528:0.0:0.2472	.	150	Q9P2H0	K1377_HUMAN	Y	150	ENSP00000263468:S150Y	ENSP00000263468:S150Y	S	+	2	0	KIAA1377	101324026	0.968000	0.33430	0.998000	0.56505	0.841000	0.47740	1.990000	0.40717	1.406000	0.46857	-0.136000	0.14681	TCC	KIAA1377	-	NULL		0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	C	NM_020802		101818816	1	no_errors	ENST00000263468	ensembl	human	known	70_37	missense	SNP	0.969	A	A	101818816	C	A	101818816	3	1	111	1	0	0	0	0	1	0	0	0	8247	855	30	3	463	3	KIAA1377	11	101818816	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	23995012	101818816	33187700	138	16771										
WNT5B	81029	genome.wustl.edu	37	chr12	1741900	1741900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccgtgtgcagtcagcttcccGggctctcccctggccagagg	13	16	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:1741900G>A	ENST00000397196.2	+	3	389	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	WNT5B_ENST00000310594.3_Missense_Mutation_p.G53R|WNT5B_ENST00000542408.1_Missense_Mutation_p.G53R|WNT5B_ENST00000537031.1_Missense_Mutation_p.G53R	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	53					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCAGCTTCCCGGGCTCTCCCC	0.577																																																	0													90	93	92					12																	1741900		2203	4300	6503	SO:0001583	missense	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.157G>A	12.37:g.1741900G>A	ENSP00000380379:p.Gly53Arg		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.G53R	ENST00000397196.2	37	c.157	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039525	0.93630	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.0	5.0	0.66597	.	0.090873	0.85682	D	0.000000	D	0.88448	0.6439	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89878	0.4028	10	0.87932	D	0	.	18.6661	0.91491	0.0:0.0:1.0:0.0	.	53	Q9H1J7	WNT5B_HUMAN	R	53	ENSP00000438414:G53R;ENSP00000445395:G53R;ENSP00000439312:G53R;ENSP00000308887:G53R;ENSP00000380379:G53R;ENSP00000442348:G53R;ENSP00000440600:G53R	ENSP00000308887:G53R	G	+	1	0	WNT5B	1612161	1.000000	0.71417	0.949000	0.38748	0.982000	0.71751	4.746000	0.62133	2.475000	0.83589	0.557000	0.71058	GGG	WNT5B	-	pfam_Wnt,smart_Wnt		0.577	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	G			1741900	1	no_errors	ENST00000310594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1741900	G	A	1741900	3	1	111	1	0	0	0	0	1	0	0	0	17423	1116	39	2	163	2	WNT5B	12	1741900	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		1741900	132109995	139	16772										
DPPA3	359787	genome.wustl.edu	37	chr12	7868017	7868018	+	Missense_Mutation	DNP	TC	TC	GT													0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tacatgttactcggcggagtTcgtacggtatgttgatgtga							TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:7868017_7868018TC>GT	ENST00000345088.2	+	2	438_439	c.321_322TC>GT	c.(319-324)gtTCgt>gtGTgt	p.R108C		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	108					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCGGCGGAGTTCGTACGGTATG	0.48																																																	0																																										SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	Exception_encountered	12.37:g.7868017_7868018delinsGT	ENSP00000339250:p.Arg108Cys		Q0P5U3|Q6JZS6	Silent|Missense_Mutation	SNP	NULL	p.V107|p.R108C	ENST00000345088.2	37	c.321|c.322	CCDS8582.1	12																																																																																			DPPA3	-	NULL		0.48	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA3	HGNC	protein_coding	OTTHUMT00000399718.1	T|C	NM_199286		7868017|7868018	1	no_errors	ENST00000345088	ensembl	human	known	70_37	silent|missense	SNP	0.000	G|T	GT	7868018	TC	GT	7868017	3	3	111	1	0	0	0	0	1	0	0	0	4745	1770	62	5	327	5	DPPA3	12	7868017	Missense_Mutation	DNP	TC	TCGA-EK-A2RK-01A-11D-A18J-09	6126117	7868017	125983878	140	16773										
MLL2	8085	genome.wustl.edu	37	chr12	49426469	49426469	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tccagggctagaaaagtgttGaagaggctttgctggcatgc	14	7	0	3	rs188017299		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:49426469G>A	ENST00000301067.7	-	39	12018	c.12019C>T	c.(12019-12021)Caa>Taa	p.Q4007*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4007	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAAAAGTGTTGAAGAGGCTTT	0.557																																																	0													56	60	59					12																	49426469		2124	4261	6385	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12019C>T	12.37:g.49426469G>A	ENSP00000301067:p.Gln4007*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q4007*	ENST00000301067.7	37	c.12019	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	52	18.657301	0.99908	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.31	5.31	0.75309	.	0.000000	0.36167	N	0.002755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1333	0.89609	0.0:0.0:1.0:0.0	.	.	.	.	X	4007	.	ENSP00000301067:Q4007X	Q	-	1	0	MLL2	47712736	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	4.173000	0.58249	2.675000	0.91044	0.591000	0.81541	CAA	MLL2	-	NULL		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49426469	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	0.954	A	A	49426469	G	A	49426469	4	1	111	1	0	0	0	0	0	1	0	0	9644	1299	45	1	4658	1	MLL2	12	49426469	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	41558452	49426469	84425426	141	16774										
KRT5	3852	genome.wustl.edu	37	chr12	52913666	52913666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gacagtgacctcttggatacCtccaggagggcagacaggaa	13	10	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:52913666C>T	ENST00000252242.4	-	1	805	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	139	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTGGATACCTCCAGGAGGG	0.622																																																	0													154	148	150					12																	52913666		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.415G>A	12.37:g.52913666C>T	ENSP00000252242:p.Gly139Ser		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G139S	ENST00000252242.4	37	c.415	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996396	0.54147	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;D	0.95035	-3.29;-1.1;-3.59	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000016	D	0.93510	0.7929	M	0.85777	2.775	0.29660	N	0.843314	B	0.23442	0.085	B	0.16289	0.015	D	0.89616	0.3845	10	0.62326	D	0.03	.	8.4964	0.33130	0.0:0.7428:0.1464:0.1108	.	139	P13647	K2C5_HUMAN	S	139;104;29;104	ENSP00000252242:G139S;ENSP00000447209:G29S;ENSP00000448041:G104S	ENSP00000252242:G139S	G	-	1	0	KRT5	51199933	.	.	1.000000	0.80357	0.842000	0.47809	.	.	2.669000	0.90835	0.655000	0.94253	GGT	KRT5	-	NULL		0.622	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	C			52913666	-1	no_errors	ENST00000252242	ensembl	human	known	70_37	missense	SNP	0.866	T	T	52913666	C	T	52913666	3	4	111	1	0	0	0	0	1	0	0	0	8499	681	24	4	1393	4	KRT5	12	52913666	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	3487197	52913666	80938229	142	16775										
SOCS2	8835	genome.wustl.edu	37	chr12	93968591	93968591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gattagagatagctcgcattCagactacctactaacaatat	6	9	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:93968591C>T	ENST00000340600.2	+	3	831	c.233C>T	c.(232-234)tCa>tTa	p.S78L	SOCS2_ENST00000551556.1_Missense_Mutation_p.S78L|SOCS2_ENST00000536696.2_Missense_Mutation_p.S78L|SOCS2_ENST00000549206.1_Missense_Mutation_p.S78L|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549122.1_Missense_Mutation_p.S78L	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	78	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AGCTCGCATTCAGACTACCTA	0.393																																																	0													77	75	75					12																	93968591		2203	4300	6503	SO:0001583	missense	8835			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.233C>T	12.37:g.93968591C>T	ENSP00000339428:p.Ser78Leu		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.S78L	ENST00000340600.2	37	c.233	CCDS9047.1	12	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181208	0.78677	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.84	5.84	0.93424	SH2 motif (4);	0.117107	0.56097	D	0.000027	D	0.89663	0.6780	M	0.70108	2.13	0.41044	D	0.985259	P	0.38992	0.653	B	0.38327	0.271	D	0.89744	0.3935	10	0.54805	T	0.06	-0.5511	20.1346	0.98019	0.0:1.0:0.0:0.0	.	78	O14508	SOCS2_HUMAN	L	78;78;78;26;78;78;78;78	ENSP00000339428:S78L;ENSP00000448815:S78L;ENSP00000442898:S78L;ENSP00000447902:S78L;ENSP00000447161:S78L;ENSP00000448611:S78L;ENSP00000449227:S78L	ENSP00000339428:S78L	S	+	2	0	SOCS2	92492722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.784000	0.62411	2.765000	0.95021	0.655000	0.94253	TCA	SOCS2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.393	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	HGNC	protein_coding	OTTHUMT00000407731.2	C			93968591	1	no_errors	ENST00000340600	ensembl	human	known	70_37	missense	SNP	1.000	T	T	93968591	C	T	93968591	3	4	111	1	0	0	0	0	1	0	0	0	14944	838	29	1	239	1	SOCS2	12	93968591	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	41054925	93968591	39883304	143	16776										
TRAFD1	10906	genome.wustl.edu	37	chr12	112585930	112585930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	actcaatactggcagctcttCccccagaggggtggaggaac	12	12	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:112585930C>G	ENST00000257604.5	+	8	1597	c.980C>G	c.(979-981)tCc>tGc	p.S327C	TRAFD1_ENST00000412615.2_Missense_Mutation_p.S327C|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	327					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGCAGCTCTTCCCCCAGAGGG	0.448																																																	0													75	71	72					12																	112585930		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.980C>G	12.37:g.112585930C>G	ENSP00000257604:p.Ser327Cys		A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.S327C	ENST00000257604.5	37	c.980	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080505	0.55753	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000548277	T;T	0.35973	1.28;1.28	5.94	5.06	0.68205	.	0.397095	0.27442	N	0.019342	T	0.53045	0.1772	M	0.77103	2.36	0.23298	N	0.997956	D	0.63880	0.993	P	0.56514	0.8	T	0.53344	-0.8452	10	0.87932	D	0	-2.4594	10.5688	0.45188	0.0:0.8488:0.0:0.1512	.	327	O14545	TRAD1_HUMAN	C	327;327;121	ENSP00000396526:S327C;ENSP00000257604:S327C	ENSP00000257604:S327C	S	+	2	0	TRAFD1	111070313	0.998000	0.40836	0.520000	0.27837	0.473000	0.32948	5.294000	0.65687	1.531000	0.49152	-0.142000	0.14014	TCC	TRAFD1	-	NULL		0.448	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	C	NM_006700		112585930	1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.371	G	G	112585930	C	G	112585930	3	3	111	1	0	0	0	0	1	0	0	0	16478	855	30	1	1006	1	TRAFD1	12	112585930	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	18617339	112585930	21265965	144	16777										
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123682868	123682868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agcttcatgcaaagcactatCtaattggccacatctaaaaa	5	10	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr12:123682868C>G	ENST00000606320.1	-	12	2157	c.1951G>C	c.(1951-1953)Gat>Cat	p.D651H	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D621H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D499H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D499H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	651						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AAAGCACTATCTAATTGGCCA	0.303																																																	0													46	44	45					12																	123682868		2203	4299	6502	SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1951G>C	12.37:g.123682868C>G	ENSP00000475489:p.Asp651His		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.D499H	ENST00000606320.1	37	c.1495		12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095789	0.76870	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.78126	-1.15;-1.15	5.0	5.0	0.66597	.	0.445449	0.23596	N	0.046495	D	0.83459	0.5259	L	0.60455	1.87	0.41619	D	0.988956	D	0.56287	0.975	P	0.54759	0.76	D	0.85504	0.1193	10	0.66056	D	0.02	-15.0588	18.6715	0.91513	0.0:1.0:0.0:0.0	.	499	Q99550	MPP9_HUMAN	H	499	ENSP00000303597:D499H;ENSP00000445859:D499H	ENSP00000303597:D499H	D	-	1	0	MPHOSPH9	122248821	1.000000	0.71417	0.982000	0.44146	0.954000	0.61252	5.154000	0.64894	2.483000	0.83821	0.462000	0.41574	GAT	MPHOSPH9	-	superfamily_Prefoldin		0.303	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	C			123682868	-1	no_errors	ENST00000541076	ensembl	human	known	70_37	missense	SNP	0.996	G	G	123682868	C	G	123682868	3	3	111	1	0	0	0	0	1	0	0	0	9751	913	32	1	1652	1	MPHOSPH9	12	123682868	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	11096938	123682868	10169027	145	16778										
PDX1	3651	genome.wustl.edu	37	chr13	28498509	28498509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	acaagtacatctcacggccgCgccgggtggagctggctgtc	14	13	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr13:28498509C>T	ENST00000381033.4	+	2	642	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CTCACGGCCGCGCCGGGTGGA	0.567																																																	0													53	56	55					13																	28498509		2203	4300	6503	SO:0001583	missense	3651			AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"Homeoboxes / ANTP class : HOXL subclass"	6107	protein-coding gene	gene with protein product	"somatostatin transcription factor 1"	600733	"insulin promoter factor 1, homeodomain transcription factor"	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.523C>T	13.37:g.28498509C>T	ENSP00000370421:p.Arg175Cys		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R175C	ENST00000381033.4	37	c.523	CCDS9327.1	13	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606099	0.87157	.	.	ENSG00000139515	ENST00000381033	D	0.96200	-3.94	4.86	4.86	0.63082	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99461	1.0943	10	0.87932	D	0	.	14.821	0.70074	0.1445:0.8555:0.0:0.0	.	175	P52945	PDX1_HUMAN	C	175	ENSP00000370421:R175C	ENSP00000370421:R175C	R	+	1	0	PDX1	27396509	0.999000	0.42202	0.996000	0.52242	0.983000	0.72400	3.880000	0.56145	2.382000	0.81193	0.555000	0.69702	CGC	PDX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.567	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDX1	HGNC	protein_coding	OTTHUMT00000044310.2	C	NM_000209		28498509	1	no_errors	ENST00000381033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28498509	C	T	28498509	3	4	111	1	0	0	0	0	1	0	0	0	11719	768	27	2	529	2	PDX1	13	28498509	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		28498509	86671369	146	16779										
PCCA	5095	genome.wustl.edu	37	chr13	100953745	100953745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgtcacagaatgcattactgGcctggacctagtccaggaaa	10	10	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr13:100953745G>T	ENST00000376285.1	+	13	1135	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	PCCA_ENST00000376279.3_Missense_Mutation_p.G366V|PCCA_ENST00000376286.4_Missense_Mutation_p.G340V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	366	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGCATTACTGGCCTGGACCTA	0.473																																																	0			GRCh37	CI034188	PCCA	I							162	141	148					13																	100953745		2203	4300	6503	SO:0001583	missense	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1097G>T	13.37:g.100953745G>T	ENSP00000365462:p.Gly366Val		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.G366V	ENST00000376285.1	37	c.1097	CCDS9496.2	13	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333152	0.81801	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.99567	-6.18;-6.18;-6.18	5.61	5.61	0.85477	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.971;0.981;0.993	D	0.96293	0.9215	10	0.87932	D	0	.	20.0862	0.97801	0.0:0.0:1.0:0.0	.	366;340;366	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	V	340;366;366	ENSP00000365463:G340V;ENSP00000365456:G366V;ENSP00000365462:G366V	ENSP00000365456:G366V	G	+	2	0	PCCA	99751746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.549000	0.98106	2.823000	0.97156	0.644000	0.83932	GGC	PCCA	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom		0.473	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	G			100953745	1	no_errors	ENST00000376285	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100953745	G	T	100953745	3	4	111	1	0	0	0	0	1	0	0	0	11528	1203	42	4	1147	4	PCCA	13	100953745	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	72455236	100953745	14216133	147	16780										
CTSG	1511	genome.wustl.edu	37	chr14	25044601	25044601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggagtggggcctgctctcccGgcctccgatgatctcccctg	13	16	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:25044601G>A	ENST00000216336.2	-	2	109	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	25	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CTGCTCTCCCGGCCTCCGATG	0.572																																																	0													99	102	101					14																	25044601		2203	4300	6503	SO:0001583	missense	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.73C>T	14.37:g.25044601G>A	ENSP00000216336:p.Arg25Trp		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R25W	ENST00000216336.2	37	c.73	CCDS9631.1	14	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429663	0.62844	.	.	ENSG00000100448	ENST00000216336	D	0.89552	-2.53	5.38	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.439540	0.04960	N	0.461848	D	0.90642	0.7065	L	0.28400	0.85	0.23923	N	0.996451	D	0.60575	0.988	P	0.61722	0.893	T	0.80641	-0.1292	10	0.66056	D	0.02	.	10.8868	0.46972	0.0:0.0:0.8127:0.1873	.	25	P08311	CATG_HUMAN	W	25	ENSP00000216336:R25W	ENSP00000216336:R25W	R	-	1	2	CTSG	24114441	0.253000	0.23982	0.956000	0.39512	0.444000	0.32077	0.550000	0.23345	2.687000	0.91594	0.655000	0.94253	CGG	CTSG	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.572	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	HGNC	protein_coding	OTTHUMT00000276536.2	G	NM_001911		25044601	-1	no_errors	ENST00000216336	ensembl	human	known	70_37	missense	SNP	0.934	A	A	25044601	G	A	25044601	3	1	111	1	0	0	0	0	1	0	0	0	4040	1115	39	2	710	2	CTSG	14	25044601	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		25044601	82304939	148	16781										
GZMB	3002	genome.wustl.edu	37	chr14	25101087	25101087	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaaggaagtctttttaatctCtgggtcccccacgcacaact	7	12	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:25101087C>T	ENST00000216341.4	-	4	683	c.577G>A	c.(577-579)Gag>Aag	p.E193K	RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Missense_Mutation_p.E148K|GZMB_ENST00000415355.3_Missense_Mutation_p.E181K|GZMB_ENST00000382542.1_Missense_Mutation_p.E227K			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTTTTAATCTCTGGGTCCCCC	0.458																																																	0													128	121	124					14																	25101087		2203	4300	6503	SO:0001583	missense	3002			BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.577G>A	14.37:g.25101087C>T	ENSP00000216341:p.Glu193Lys		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E227K	ENST00000216341.4	37	c.679	CCDS9633.1	14	.	.	.	.	.	.	.	.	.	.	c	1.328	-0.597577	0.03771	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	T;D;D;T	0.93019	0.24;-3.15;-3.15;1.52	5.3	0.32	0.15878	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452303	0.16456	N	0.213632	T	0.77545	0.4146	N	0.05012	-0.13	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.65602	-0.6128	10	0.02654	T	1	.	3.3041	0.06993	0.1686:0.2843:0.0:0.5471	.	181;193	Q6XGZ4;P10144	.;GRAB_HUMAN	K	181;193;227;148;98	ENSP00000387385:E181K;ENSP00000216341:E193K;ENSP00000371982:E227K;ENSP00000371980:E148K	ENSP00000216341:E193K	E	-	1	0	GZMB	24170927	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.015000	0.12634	-0.088000	0.12506	-0.302000	0.09304	GAG	GZMB	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.458	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMB	HGNC	protein_coding	OTTHUMT00000276540.3	C	NM_004131		25101087	-1	no_errors	ENST00000382542	ensembl	human	known	70_37	missense	SNP	0.002	T	T	25101087	C	T	25101087	3	4	111	1	0	0	0	0	1	0	0	0	6936	922	32	1	174	1	GZMB	14	25101087	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	56486	25101087	82248453	149	16782										
EXOC5	10640	genome.wustl.edu	37	chr14	57675407	57675407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtgaagtatattcttgtccaGattagcaagttgttctcctg	9	7	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:57675407G>C	ENST00000413566.2	-	18	2406	c.2047C>G	c.(2047-2049)Ctg>Gtg	p.L683V	EXOC5_ENST00000340918.7_Missense_Mutation_p.L618V	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	683					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TTCTTGTCCAGATTAGCAAGT	0.408																																																	0													137	137	137					14																	57675407		1859	4101	5960	SO:0001583	missense	10640			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.2047C>G	14.37:g.57675407G>C	ENSP00000389934:p.Leu683Val		B2R6C5	Missense_Mutation	SNP	pfam_Sec10-like	p.L683V	ENST00000413566.2	37	c.2047	CCDS45111.1	14	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487971	0.84854	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.48201	0.83;0.82	5.49	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	L	0.48986	1.54	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.85130	0.994;0.997	T	0.60475	-0.7256	10	0.39692	T	0.17	-4.5562	13.9283	0.63978	0.0728:0.0:0.9272:0.0	.	618;683	F8W9B8;O00471	.;EXOC5_HUMAN	V	683;618	ENSP00000389934:L683V;ENSP00000342100:L618V	ENSP00000342100:L618V	L	-	1	2	EXOC5	56745160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	1.317000	0.45149	0.585000	0.79938	CTG	EXOC5	-	pfam_Sec10-like		0.408	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EXOC5	HGNC	protein_coding	OTTHUMT00000412905.1	G	NM_006544		57675407	-1	no_errors	ENST00000413566	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57675407	G	C	57675407	3	2	111	1	0	0	0	0	1	0	0	0	5319	933	33	1	83	1	EXOC5	14	57675407	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	32574320	57675407	49674133	150	16783										
RTN1	6252	genome.wustl.edu	37	chr14	60212537	60212537	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tagacatatatcttgcttctCaggggtcttctcttgggtag	10	8	4	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:60212537C>T	ENST00000267484.5	-	2	1239	c.904G>A	c.(904-906)Gag>Aag	p.E302K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	302					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTGCTTCTCAGGGGTCTTC	0.512																																																	0													96	93	94					14																	60212537		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.904G>A	14.37:g.60212537C>T	ENSP00000267484:p.Glu302Lys		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E302K	ENST00000267484.5	37	c.904	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370033	0.61624	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24538	1.85	5.53	5.53	0.82687	.	0.217350	0.38326	N	0.001731	T	0.25457	0.0619	M	0.67953	2.075	0.33975	D	0.647224	P	0.44734	0.842	B	0.40165	0.321	T	0.31024	-0.9958	10	0.15499	T	0.54	.	10.5702	0.45196	0.0:0.8823:0.0:0.1177	.	302	Q16799	RTN1_HUMAN	K	302;228	ENSP00000267484:E302K	ENSP00000267484:E302K	E	-	1	0	RTN1	59282290	0.237000	0.23815	0.948000	0.38648	0.834000	0.47266	1.621000	0.36986	2.588000	0.87417	0.557000	0.71058	GAG	RTN1	-	NULL		0.512	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	C			60212537	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.899	T	T	60212537	C	T	60212537	3	4	111	1	0	0	0	0	1	0	0	0	13755	835	29	1	1523	1	RTN1	14	60212537	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2537130	60212537	47137003	151	16784										
SYNE2	23224	genome.wustl.edu	37	chr14	64468776	64468776	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gatttcatctcattgatgctGatcgcatctatcaacaccta	5	11	4	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:64468776G>C	ENST00000344113.4	+	29	3975	c.3763G>C	c.(3763-3765)Gat>Cat	p.D1255H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1255H|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1255H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1255					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATTGATGCTGATCGCATCTA	0.403																																																	0													133	128	129					14																	64468776		1904	4113	6017	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3763G>C	14.37:g.64468776G>C	ENSP00000341781:p.Asp1255His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1255H	ENST00000344113.4	37	c.3763	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812223	0.32053	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.60672	0.55;0.55;0.17	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000023	T	0.65344	0.2682	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.819;0.912	T	0.62445	-0.6853	10	0.33940	T	0.23	.	9.098	0.36651	0.1292:0.0:0.8708:0.0	.	1255;1255	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	1255	ENSP00000350719:D1255H;ENSP00000341781:D1255H;ENSP00000452570:D1255H	ENSP00000261678:D1255H	D	+	1	0	SYNE2	63538529	0.870000	0.30015	0.627000	0.29227	0.481000	0.33189	1.892000	0.39748	2.709000	0.92574	0.655000	0.94253	GAT	SYNE2	-	NULL		0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64468776	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.636	C	C	64468776	G	C	64468776	3	2	111	1	0	0	0	0	1	0	0	0	15476	1290	45	1	3873	1	SYNE2	14	64468776	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4256239	64468776	42880764	152	16785										
SPTB	6710	genome.wustl.edu	37	chr14	65242109	65242109	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cggcgtatggcccagaatctCattctgcagtgtctgcggcc	12	13	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:65242109C>G	ENST00000389721.5	-	22	4608	c.4576G>C	c.(4576-4578)Gag>Cag	p.E1526Q	SPTB_ENST00000389722.3_Missense_Mutation_p.E1526Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E1526Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E1526Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E1526Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1526					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGAATCTCATTCTGCAGT	0.652																																																	0													31	30	30					14																	65242109		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4576G>C	14.37:g.65242109C>G	ENSP00000374371:p.Glu1526Gln		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1526Q	ENST00000389721.5	37	c.4576	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075972	0.76415	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.05	5.05	0.67936	.	0.113709	0.64402	D	0.000015	T	0.78929	0.4361	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.996;0.991;0.996	D	0.84213	0.0457	10	0.87932	D	0	.	17.5392	0.87842	0.0:1.0:0.0:0.0	.	310;1526;1530	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1530;1526;310;191;1526;1526;1526;1526	ENSP00000374372:E1526Q;ENSP00000451324:E191Q;ENSP00000451752:E1526Q;ENSP00000374371:E1526Q;ENSP00000443882:E1526Q;ENSP00000374370:E1526Q	ENSP00000334218:E310Q	E	-	1	0	SPTB	64311862	1.000000	0.71417	0.964000	0.40570	0.425000	0.31504	7.799000	0.85936	2.491000	0.84063	0.555000	0.69702	GAG	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.652	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	C			65242109	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65242109	C	G	65242109	3	3	111	1	0	0	0	0	1	0	0	0	15148	835	29	1	2535	1	SPTB	14	65242109	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	773333	65242109	42107431	153	16786										
HEATR4	399671	genome.wustl.edu	37	chr14	73963365	73963365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tttcctaagttgagtatcttCattgtctggtacatttctct	6	8	4	1	rs141407968	byFrequency	TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:73963365C>T	ENST00000553558.1	-	15	2886	c.2565G>A	c.(2563-2565)atG>atA	p.M855I	HEATR4_ENST00000334988.2_Missense_Mutation_p.M855I|HEATR4_ENST00000560393.1_Missense_Mutation_p.M808I	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	855										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TGAGTATCTTCATTGTCTGGT	0.373																																																	0													168	154	159					14																	73963365		2203	4299	6502	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2565G>A	14.37:g.73963365C>T	ENSP00000450444:p.Met855Ile		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.M855I	ENST00000553558.1	37	c.2565	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856671	0.51376	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.23754	1.89	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.19846	0.0477	N	0.24115	0.695	0.34424	D	0.697784	P	0.49185	0.92	B	0.40825	0.341	T	0.22626	-1.0211	10	0.56958	D	0.05	-20.9051	15.6828	0.77385	0.0:1.0:0.0:0.0	.	855	Q86WZ0	HEAT4_HUMAN	I	855;808	ENSP00000450444:M855I	ENSP00000335447:M808I	M	-	3	0	HEATR4	73033118	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.901000	0.56303	2.690000	0.91761	0.655000	0.94253	ATG	HEATR4	-	superfamily_ARM-type_fold		0.373	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73963365	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73963365	C	T	73963365	3	4	111	1	0	0	0	0	1	0	0	0	7050	826	29	1	531	1	HEATR4	14	73963365	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	8721256	73963365	33386175	154	16787										
FAM161B	145483	genome.wustl.edu	37	chr14	74409178	74409178	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tggcctcttgggtttctcttCttttggctgctcttctctgg	10	11	5	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:74409178C>A	ENST00000534936.1	-	4	1271	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	FAM161B_ENST00000286544.3_Missense_Mutation_p.R452I			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	389										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GGTTTCTCTTCTTTTGGCTGC	0.577																																																	0													157	144	149					14																	74409178		2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1166G>T	14.37:g.74409178C>A	ENSP00000445326:p.Arg389Ile		B7Z882|J3KNA2	Missense_Mutation	SNP	pfam_UPF0564	p.R452I	ENST00000534936.1	37	c.1355		14	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559589	0.65538	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.23950	1.88;1.88	5.5	3.55	0.40652	.	0.313274	0.31484	N	0.007569	T	0.43166	0.1235	M	0.76574	2.34	0.19575	N	0.999964	D	0.61080	0.989	P	0.58077	0.832	T	0.28299	-1.0048	10	0.72032	D	0.01	-4.825	11.0066	0.47637	0.0:0.7883:0.0:0.2117	.	389	Q96MY7	F161B_HUMAN	I	452;389	ENSP00000286544:R452I;ENSP00000445326:R389I	ENSP00000286544:R452I	R	-	2	0	FAM161B	73478931	0.998000	0.40836	0.994000	0.49952	0.969000	0.65631	1.164000	0.31810	1.563000	0.49615	-0.140000	0.14226	AGA	FAM161B	-	pfam_UPF0564		0.577	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	FAM161B	HGNC	protein_coding		C	NM_152445		74409178	-1	no_errors	ENST00000286544	ensembl	human	known	70_37	missense	SNP	0.012	A	A	74409178	C	A	74409178	3	1	111	1	0	0	0	0	1	0	0	0	5488	913	32	3	801	3	FAM161B	14	74409178	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	445813	74409178	32940362	155	16788										
SERPINA4	5267	genome.wustl.edu	37	chr14	95030000	95030000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccaatgctgactttgccttcCgcttctactacctgatcgct	6	15	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:95030000C>T	ENST00000557004.1	+	2	602	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R61C|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R61C			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	61					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTTGCCTTCCGCTTCTACTA	0.592																																																	0													84	77	80					14																	95030000		2203	4300	6503	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.181C>T	14.37:g.95030000C>T	ENSP00000450838:p.Arg61Cys		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R61C	ENST00000557004.1	37	c.181	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843602	0.51164	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85411	-1.98;-1.98;-1.98	4.38	-2.21	0.06973	Serpin domain (3);	0.695493	0.11957	N	0.513120	D	0.88455	0.6441	M	0.69523	2.12	0.09310	N	1	D;D	0.76494	0.999;0.964	D;B	0.67725	0.953;0.397	T	0.78902	-0.2021	10	0.66056	D	0.02	.	6.7059	0.23250	0.5848:0.2538:0.0:0.1613	.	61;61	B2R815;P29622	.;KAIN_HUMAN	C	61	ENSP00000450838:R61C;ENSP00000451172:R61C;ENSP00000298841:R61C	ENSP00000298841:R61C	R	+	1	0	SERPINA4	94099753	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-2.170000	0.01268	-0.283000	0.09115	0.563000	0.77884	CGC	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.592	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	C	NM_006215		95030000	1	no_errors	ENST00000298841	ensembl	human	known	70_37	missense	SNP	0.002	T	T	95030000	C	T	95030000	3	4	111	1	0	0	0	0	1	0	0	0	14121	652	23	2	183	2	SERPINA4	14	95030000	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	20620822	95030000	12319540	156	16789										
ZNF839	55778	genome.wustl.edu	37	chr14	102802038	102802038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tcacgaaggttgaaaaagatCatctagcaaagccttttttc	7	8	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:102802038C>T	ENST00000558850.1	+	5	1524	c.1174C>T	c.(1174-1176)Cat>Tat	p.H392Y	ZNF839_ENST00000559185.1_Missense_Mutation_p.H392Y|ZNF839_ENST00000262236.5_Missense_Mutation_p.H392Y|ZNF839_ENST00000442396.2_Missense_Mutation_p.H508Y	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	392							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAAAAAGATCATCTAGCAAA	0.328																																																	0													53	46	48					14																	102802038		1817	4070	5887	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1174C>T	14.37:g.102802038C>T	ENSP00000453363:p.His392Tyr		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.H508Y	ENST00000558850.1	37	c.1522	CCDS58336.1	14	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516127	0.27123	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.18502	2.21;2.22	4.97	3.1	0.35709	.	0.720633	0.13084	N	0.415084	T	0.17280	0.0415	L	0.49126	1.545	0.09310	N	1	B;B;B;P	0.37573	0.395;0.244;0.395;0.6	B;B;B;B	0.40009	0.157;0.091;0.157;0.316	T	0.14643	-1.0465	10	0.42905	T	0.14	.	6.2211	0.20681	0.1389:0.6542:0.0:0.207	.	508;392;271;392	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	Y	508;392;60	ENSP00000399863:H508Y;ENSP00000262236:H392Y	ENSP00000262236:H392Y	H	+	1	0	ZNF839	101871791	0.000000	0.05858	0.001000	0.08648	0.687000	0.40016	0.390000	0.20768	0.508000	0.28173	0.447000	0.29281	CAT	ZNF839	-	NULL		0.328	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	C	NM_018335		102802038	1	no_errors	ENST00000442396	ensembl	human	known	70_37	missense	SNP	0.000	T	T	102802038	C	T	102802038	3	4	111	1	0	0	0	0	1	0	0	0	18218	826	29	1	1540	1	ZNF839	14	102802038	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	7772038	102802038	4547502	157	16790										
PPP1R13B	23368	genome.wustl.edu	37	chr14	104224057	104224057	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgccatatcttggagctctGagagggtaagttcaacacgt	11	9	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr14:104224057G>C	ENST00000202556.9	-	5	668	c.386C>G	c.(385-387)tCa>tGa	p.S129*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	129					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TTGGAGCTCTGAGAGGGTAAG	0.388																																																	0													129	119	122					14																	104224057		1874	4105	5979	SO:0001587	stop_gained	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.386C>G	14.37:g.104224057G>C	ENSP00000202556:p.Ser129*		B2RMX5|O94870	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.S129*	ENST00000202556.9	37	c.386	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.377263	0.97520	.	.	ENSG00000088808	ENST00000202556;ENST00000555734	.	.	.	5.92	5.92	0.95590	.	0.057161	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	129;126	.	ENSP00000202556:S129X	S	-	2	0	PPP1R13B	103293810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.804000	0.96469	0.655000	0.94253	TCA	PPP1R13B	-	NULL		0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	G	NM_015316		104224057	-1	no_errors	ENST00000202556	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	104224057	G	C	104224057	4	2	111	1	0	0	0	0	0	1	0	0	12384	1294	45	1	2938	1	PPP1R13B	14	104224057	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	1422019	104224057	3125483	158	16791										
MGA	23269	genome.wustl.edu	37	chr15	41991294	41991294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gaatttcccagttggaaaagGaattgatagaagatttgaag	11	3	0	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr15:41991294G>A	ENST00000570161.1	+	4	2125	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	MGA_ENST00000389936.4_Missense_Mutation_p.E709K|MGA_ENST00000219905.7_Missense_Mutation_p.E709K|MGA_ENST00000566586.1_Missense_Mutation_p.E709K|MGA_ENST00000545763.1_Missense_Mutation_p.E709K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGGAAAAGGAATTGATAGA	0.348																																																	0													81	76	78					15																	41991294		1834	4083	5917	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2125G>A	15.37:g.41991294G>A	ENSP00000457035:p.Glu709Lys		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E709K	ENST00000570161.1	37	c.2125	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574953	0.65878	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.47869	0.83;0.83;0.83	5.14	5.14	0.70334	.	2.639510	0.01224	N	0.008182	T	0.51075	0.1653	N	0.24115	0.695	0.35686	D	0.814472	D;B	0.53151	0.958;0.124	P;B	0.47645	0.553;0.033	T	0.51293	-0.8724	10	0.87932	D	0	.	16.7781	0.85557	0.0:0.0:1.0:0.0	.	709;709	F5H7K2;E7ENI0	.;.	K	709	ENSP00000219905:E709K;ENSP00000374586:E709K;ENSP00000442467:E709K	ENSP00000219905:E709K	E	+	1	0	MGA	39778586	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.706000	0.74649	2.406000	0.81754	0.561000	0.74099	GAA	MGA	-	NULL		0.348	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		41991294	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41991294	G	A	41991294	3	1	111	1	0	0	0	0	1	0	0	0	9563	1175	41	1	2139	1	MGA	15	41991294	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		41991294	60540098	159	16792										
RNF111	54778	genome.wustl.edu	37	chr15	59373346	59373346	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gccagtacagctgcaccaatCcctcagcatcttcctcctac	5	18	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr15:59373346C>G	ENST00000557998.1	+	8	2447	c.2160C>G	c.(2158-2160)atC>atG	p.I720M	RNF111_ENST00000348370.4_Missense_Mutation_p.I720M|RNF111_ENST00000561186.1_Missense_Mutation_p.I720M|RNF111_ENST00000434298.1_Missense_Mutation_p.I720M|RNF111_ENST00000559209.1_Missense_Mutation_p.I720M	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	720	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTGCACCAATCCCTCAGCATC	0.502																																					NSCLC(72;983 1365 10746 34387 47081)												0													327	269	289					15																	59373346		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2160C>G	15.37:g.59373346C>G	ENSP00000452732:p.Ile720Met		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I720M	ENST00000557998.1	37	c.2160	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020956	0.54576	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15487	2.42;2.44	5.55	4.63	0.57726	.	0.131736	0.53938	D	0.000055	T	0.08891	0.0220	N	0.08118	0	0.32705	N	0.512327	P;P;P	0.50443	0.935;0.868;0.919	P;B;B	0.45610	0.487;0.23;0.406	T	0.05305	-1.0893	10	0.56958	D	0.05	-1.2376	2.8252	0.05483	0.2371:0.5035:0.1213:0.138	.	720;720;720	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	M	720	ENSP00000288199:I720M;ENSP00000393641:I720M	ENSP00000288199:I720M	I	+	3	3	RNF111	57160638	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.362000	0.20284	2.613000	0.88420	0.467000	0.42956	ATC	RNF111	-	NULL		0.502	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	C	NM_017610		59373346	1	no_errors	ENST00000434298	ensembl	human	known	70_37	missense	SNP	0.995	G	G	59373346	C	G	59373346	3	3	111	1	0	0	0	0	1	0	0	0	13455	845	30	1	2186	1	RNF111	15	59373346	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	17382052	59373346	43158046	160	16793										
UACA	55075	genome.wustl.edu	37	chr15	70952492	70952492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggagaagtagttctttacctGtgcagcactaagaaggtgtg	13	6	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr15:70952492G>T	ENST00000322954.6	-	18	4362	c.4177C>A	c.(4177-4179)Cag>Aag	p.Q1393K	UACA_ENST00000539319.1_Missense_Mutation_p.Q1284K|UACA_ENST00000560441.1_Missense_Mutation_p.Q1378K|UACA_ENST00000379983.2_Missense_Mutation_p.Q1380K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1393					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTTTACCTGTGCAGCACTA	0.328																																																	0													129	122	125					15																	70952492		2199	4298	6497	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4177C>A	15.37:g.70952492G>T	ENSP00000314556:p.Gln1393Lys		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.Q1393K	ENST00000322954.6	37	c.4177	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775371	0.90108	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.50277	0.75;0.75;0.75	5.45	5.45	0.79879	.	0.106321	0.42420	D	0.000708	T	0.70692	0.3253	M	0.75615	2.305	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.991;0.99	T	0.73212	-0.4054	10	0.66056	D	0.02	-3.7466	19.2859	0.94069	0.0:0.0:1.0:0.0	.	1284;1393;1380	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	K	1393;1380;1284	ENSP00000314556:Q1393K;ENSP00000369319:Q1380K;ENSP00000438667:Q1284K	ENSP00000314556:Q1393K	Q	-	1	0	UACA	68739546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.148000	0.77389	2.552000	0.86080	0.555000	0.69702	CAG	UACA	-	NULL		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	G			70952492	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70952492	G	T	70952492	3	4	111	1	0	0	0	0	1	0	0	0	16855	1386	48	4	81	4	UACA	15	70952492	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	11579146	70952492	31578900	161	16794										
LINGO1	84894	genome.wustl.edu	37	chr15	77906551	77906551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggacgacgcccaggaaagaGatgaagcccatggtggtggc	16	9	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr15:77906551G>A	ENST00000355300.6	-	2	1872	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	LINGO1_ENST00000561030.1_Silent_p.I560I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	566					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CCAGGAAAGAGATGAAGCCCA	0.607																																																	0													114	122	119					15																	77906551		2156	4262	6418	SO:0001819	synonymous_variant	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1698C>T	15.37:g.77906551G>A			D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I566	ENST00000355300.6	37	c.1698	CCDS45313.1	15																																																																																			LINGO1	-	NULL		0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	G	NM_032808		77906551	-1	no_errors	ENST00000355300	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77906551	G	A	77906551	2	1	111	1	0	0	0	0	0	0	0	1	8835	932	33	1		1	LINGO1	15	77906551	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	6954059	77906551	24624841	162	16795										
ACSBG1	23205	genome.wustl.edu	37	chr15	78471012	78471012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cgtccaggcggccagcatcaCccgtgtgcagccagccttcc	11	18	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr15:78471012C>T	ENST00000258873.4	-	11	1851	c.1646G>A	c.(1645-1647)gGt>gAt	p.G549D	ACSBG1_ENST00000541759.1_Missense_Mutation_p.G307D|ACSBG1_ENST00000560817.1_Missense_Mutation_p.G307D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	549					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCCAGCATCACCCGTGTGCAG	0.622																																																	0													100	66	78					15																	78471012		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1646G>A	15.37:g.78471012C>T	ENSP00000258873:p.Gly549Asp		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G549D	ENST00000258873.4	37	c.1646	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351784	0.61183	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.33654	1.4;1.4	5.48	4.54	0.55810	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.89163	3.01	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73908	-0.3834	10	0.87932	D	0	-26.0845	14.5791	0.68274	0.147:0.853:0.0:0.0	.	545;549	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	D	549;307	ENSP00000258873:G549D;ENSP00000439955:G307D	ENSP00000258873:G549D	G	-	2	0	ACSBG1	76258067	1.000000	0.71417	0.014000	0.15608	0.159000	0.22180	7.713000	0.84693	1.274000	0.44362	0.655000	0.94253	GGT	ACSBG1	-	pfam_AMP-dep_Synth/Lig		0.622	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	C	NM_015162		78471012	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	missense	SNP	0.991	T	T	78471012	C	T	78471012	3	4	111	1	0	0	0	0	1	0	0	0	173	507	18	4	544	4	ACSBG1	15	78471012	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	564461	78471012	24060380	163	16796										
TTLL13	440307	genome.wustl.edu	37	chr15	90802006	90802006	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tccaagctttaccacggactCatgccttgatcaagaagtaa	7	11	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr15:90802006C>G	ENST00000339615.5	+	10	1489	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000438251.1_Nonsense_Mutation_p.S400*	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ACCACGGACTCATGCCTTGAT	0.517																																																	0													137	106	117					15																	90802006		2199	4298	6497	SO:0001587	stop_gained	440307			BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1199C>G	15.37:g.90802006C>G	ENSP00000345294:p.Ser400*			Nonsense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S400*	ENST00000339615.5	37	c.1199	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.675563	0.98425	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8339	0.92153	0.0:1.0:0.0:0.0	.	.	.	.	X	400	.	ENSP00000345294:S400X	S	+	2	0	TTLL13	88603010	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	7.347000	0.79356	2.707000	0.92482	0.655000	0.94253	TCA	TTLL13	-	pfam_Tub_tyr_ligase		0.517	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	C	NM_001029964		90802006	1	no_errors	ENST00000438251	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	90802006	C	G	90802006	4	3	111	1	0	0	0	0	0	1	0	0	16757	838	29	1	1233	1	TTLL13	15	90802006	Nonsense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	12330994	90802006	11729386	164	16797										
RHBDF1	64285	genome.wustl.edu	37	chr16	109765	109765	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	atgcagcagggccgtcctgtGatgacacagtccatgtgggg	15	10	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:109765G>A	ENST00000262316.6	-	14	1924	c.1782C>T	c.(1780-1782)atC>atT	p.I594I		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	594					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCCGTCCTGTGATGACACAGT	0.612																																																	0													173	122	139					16																	109765		2203	4300	6503	SO:0001819	synonymous_variant	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1782C>T	16.37:g.109765G>A			Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.I594	ENST00000262316.6	37	c.1782	CCDS32344.1	16																																																																																			RHBDF1	-	NULL		0.612	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	G	NM_022450		109765	-1	no_errors	ENST00000262316	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109765	G	A	109765	2	1	111	1	0	0	0	0	0	0	0	1	13349	1280	45	1		1	RHBDF1	16	109765	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		109765	90244988	165	16798										
GLIS2	84662	genome.wustl.edu	37	chr16	4386876	4386876	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gcgctacacggaccccagctCactgcgcaagcacatcaagg	10	16	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:4386876C>T	ENST00000262366.3	+	8	1747	c.926C>T	c.(925-927)tCa>tTa	p.S309L	GLIS2_ENST00000433375.1_Missense_Mutation_p.S309L|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	309					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GACCCCAGCTCACTGCGCAAG	0.637																																																	0													68	56	60					16																	4386876		2197	4299	6496	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.926C>T	16.37:g.4386876C>T	ENSP00000262366:p.Ser309Leu		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S309L	ENST00000262366.3	37	c.926	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.350635	0.95830	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.49432	0.78;0.78	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	L	0.42632	1.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64529	-0.6386	10	0.87932	D	0	.	18.8769	0.92341	0.0:1.0:0.0:0.0	.	309	Q9BZE0	GLIS2_HUMAN	L	309	ENSP00000262366:S309L;ENSP00000395547:S309L	ENSP00000262366:S309L	S	+	2	0	GLIS2	4326877	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	6.010000	0.70753	2.757000	0.94681	0.655000	0.94253	TCA	GLIS2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4386876	1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4386876	C	T	4386876	3	4	111	1	0	0	0	0	1	0	0	0	6465	838	29	1	948	1	GLIS2	16	4386876	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4277111	4386876	85967877	166	16799			2	71		3	3	605	C		1.1463e-05
GLIS2	84662	genome.wustl.edu	37	chr16	4386904	4386904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aagcacatcaaggcccatggCcactttgtgtcccacgagca	9	14	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:4386904C>T	ENST00000262366.3	+	8	1775	c.954C>T	c.(952-954)ggC>ggT	p.G318G	GLIS2_ENST00000433375.1_Silent_p.G318G|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	318					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGCCCATGGCCACTTTGTGT	0.667																																																	0													67	55	59					16																	4386904		2197	4298	6495	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.954C>T	16.37:g.4386904C>T			B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G318	ENST00000262366.3	37	c.954	CCDS10511.1	16																																																																																			GLIS2	-	NULL		0.667	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4386904	1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4386904	C	T	4386904	2	4	111	1	0	0	0	0	0	0	0	1	6465	726	26	4		4	GLIS2	16	4386904	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	28	4386904	85967849	167	16800			2	71		3	3	605	C		1.1463e-05
GLIS2	84662	genome.wustl.edu	37	chr16	4387480	4387480	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttggcccctggctgggtggtCatcccgccgggctcggtgct	16	14	1	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:4387480C>T	ENST00000262366.3	+	8	2351	c.1530C>T	c.(1528-1530)gtC>gtT	p.V510V	GLIS2_ENST00000433375.1_Silent_p.V510V|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	510					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTGGGTGGTCATCCCGCCGG	0.706																																																	0													11	10	11					16																	4387480		2167	4255	6422	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1530C>T	16.37:g.4387480C>T			B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V510	ENST00000262366.3	37	c.1530	CCDS10511.1	16																																																																																			GLIS2	-	NULL		0.706	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4387480	1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4387480	C	T	4387480	2	4	111	1	0	0	0	0	0	0	0	1	6465	813	29	1		1	GLIS2	16	4387480	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	576	4387480	85967273	168	16801			2	71		3	3	605	C		1.1463e-05
NUDT16L1	84309	genome.wustl.edu	37	chr16	4745112	4745112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgcccgaggagaagctggttGaggccctggctgcagccacc	15	13	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:4745112G>A	ENST00000304301.6	+	3	601	c.568G>A	c.(568-570)Gag>Aag	p.E190K	NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.E150K	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	190	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GAAGCTGGTTGAGGCCCTGGC	0.622																																																	0													77	74	75					16																	4745112		2197	4300	6497	SO:0001583	missense	84309			BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.568G>A	16.37:g.4745112G>A	ENSP00000306670:p.Glu190Lys		Q8NAI2	Missense_Mutation	SNP	superfamily_NUDIX_hydrolase_dom-like	p.E190K	ENST00000304301.6	37	c.568	CCDS10519.1	16	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519048	0.44866	.	.	ENSG00000168101	ENST00000304301	T	0.50813	0.73	4.38	4.38	0.52667	NUDIX hydrolase domain-like (1);	0.877610	0.09436	N	0.802465	T	0.48352	0.1495	N	0.13235	0.315	0.80722	D	1	D	0.63880	0.993	P	0.59171	0.853	T	0.30707	-0.9969	10	0.19147	T	0.46	.	15.5336	0.75983	0.0:0.0:1.0:0.0	.	190	Q9BRJ7	SDOS_HUMAN	K	190	ENSP00000306670:E190K	ENSP00000306670:E190K	E	+	1	0	NUDT16L1	4685113	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.318000	0.65829	1.971000	0.57363	0.655000	0.94253	GAG	NUDT16L1	-	superfamily_NUDIX_hydrolase_dom-like		0.622	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16L1	HGNC	protein_coding	OTTHUMT00000251634.1	G	NM_032349		4745112	1	no_errors	ENST00000304301	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4745112	G	A	4745112	3	1	111	1	0	0	0	0	1	0	0	0	10757	1291	45	1	578	1	NUDT16L1	16	4745112	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	357632	4745112	85609641	169	16802										
GTF3C1	2975	genome.wustl.edu	37	chr16	27556663	27556663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggcttccaccattgtacagcGaggctgcaaggacttggttc	12	11	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:27556663G>A	ENST00000356183.4	-	2	418	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R135C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	135					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATTGTACAGCGAGGCTGCAAG	0.483																																																	0													186	157	167					16																	27556663		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.403C>T	16.37:g.27556663G>A	ENSP00000348510:p.Arg135Cys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R135C	ENST00000356183.4	37	c.403	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447719	0.12223	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22743	1.94	4.33	3.28	0.37604	.	0.201128	0.34088	N	0.004275	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.09377	0.002;0.004	T	0.13710	-1.0499	10	0.31617	T	0.26	-6.5248	3.7571	0.08589	0.1589:0.0:0.611:0.2301	.	135;135	Q12789;Q12789-3	TF3C1_HUMAN;.	C	135	ENSP00000348510:R135C	ENSP00000348510:R135C	R	-	1	0	GTF3C1	27464164	0.991000	0.36638	0.566000	0.28421	0.394000	0.30568	4.771000	0.62318	2.113000	0.64589	0.491000	0.48974	CGC	GTF3C1	-	NULL		0.483	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	G	NM_001520		27556663	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.008	A	A	27556663	G	A	27556663	3	1	111	1	0	0	0	0	1	0	0	0	6892	1058	37	1	6070	1	GTF3C1	16	27556663	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	22811551	27556663	62798090	170	16803										
ZNF423	23090	genome.wustl.edu	37	chr16	49672168	49672168	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gacgaagacctcagggcagtGaatgcactgcaggtccgcct	13	12	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:49672168G>C	ENST00000561648.1	-	4	948	c.895C>G	c.(895-897)Cac>Gac	p.H299D	ZNF423_ENST00000567169.1_Missense_Mutation_p.H182D|ZNF423_ENST00000535559.1_Missense_Mutation_p.H182D|ZNF423_ENST00000562520.1_Missense_Mutation_p.H239D|ZNF423_ENST00000562871.1_Missense_Mutation_p.H239D|ZNF423_ENST00000563137.2_Missense_Mutation_p.H239D|ZNF423_ENST00000262383.2_Missense_Mutation_p.H299D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	299					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCAGGGCAGTGAATGCACTGC	0.612																																																	0													101	70	81					16																	49672168		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.895C>G	16.37:g.49672168G>C	ENSP00000455426:p.His299Asp		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H299D	ENST00000561648.1	37	c.895	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030745	0.54790	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07216	3.21;3.21	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.54323	1.7	0.43025	D	0.99458	D	0.57899	0.981	P	0.50537	0.643	T	0.01301	-1.1391	9	.	.	.	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	299	Q2M1K9	ZN423_HUMAN	D	299;182	ENSP00000262383:H299D;ENSP00000442321:H182D	.	H	-	1	0	ZNF423	48229669	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.657000	0.67996	2.331000	0.79229	0.561000	0.74099	CAC	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	G	NM_015069		49672168	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49672168	G	C	49672168	3	2	111	1	0	0	0	0	1	0	0	0	17928	1290	45	1	2979	1	ZNF423	16	49672168	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	22115505	49672168	40682585	171	16804										
RLTPR	146206	genome.wustl.edu	37	chr16	67683738	67683738	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgggaccggaaccacacatCtgctttgggtctgctggacg	13	12	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:67683738C>T	ENST00000334583.6	+	21	2277	c.1949C>T	c.(1948-1950)tCt>tTt	p.S650F	RLTPR_ENST00000545661.1_Missense_Mutation_p.S614F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	650	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACCACACATCTGCTTTGGGT	0.667																																																	0													43	51	48					16																	67683738		2105	4217	6322	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1949C>T	16.37:g.67683738C>T	ENSP00000334958:p.Ser650Phe		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S650F	ENST00000334583.6	37	c.1949	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.096248	0.94197	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.56776	0.44;0.44	5.11	5.11	0.69529	.	0.059857	0.64402	D	0.000004	T	0.61553	0.2356	L	0.42245	1.32	0.45930	D	0.998769	D;D	0.67145	0.996;0.996	P;P	0.59703	0.862;0.804	T	0.63791	-0.6557	10	0.59425	D	0.04	-10.6818	15.2694	0.73689	0.0:1.0:0.0:0.0	.	614;650	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	F	650;614	ENSP00000334958:S650F;ENSP00000441481:S614F	ENSP00000334958:S650F	S	+	2	0	RLTPR	66241239	0.283000	0.24277	0.999000	0.59377	0.991000	0.79684	3.035000	0.49759	2.392000	0.81423	0.561000	0.74099	TCT	RLTPR	-	NULL		0.667	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	C	NM_001013838		67683738	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.998	T	T	67683738	C	T	67683738	3	4	111	1	0	0	0	0	1	0	0	0	13424	913	32	1	2031	1	RLTPR	16	67683738	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	18011570	67683738	22671015	172	16805										
NFATC3	4775	genome.wustl.edu	37	chr16	68248234	68248234	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttgtcttctttgacacagacCaatttatatctgacttggaa	6	8	3	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:68248234C>G	ENST00000346183.3	+	10	3130				NFATC3_ENST00000349223.5_Intron|RP11-96D1.5_ENST00000569088.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Intron|NFATC3_ENST00000329524.4_Missense_Mutation_p.Q1037E	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3						cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGACACAGACCAATTTATATC	0.423																																																	0													153	128	136					16																	68248234		2198	4300	6498	SO:0001627	intron_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.3107-12019C>G	16.37:g.68248234C>G			O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.Q1037E	ENST00000346183.3	37	c.3109	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654042	0.47362	.	.	ENSG00000072736	ENST00000329524;ENST00000535127	T	0.07327	3.2	5.96	5.96	0.96718	.	.	.	.	.	T	0.07143	0.0181	N	0.22421	0.69	0.28354	N	0.920776	B	0.25609	0.13	B	0.19148	0.024	T	0.17319	-1.0373	9	0.36615	T	0.2	.	12.9566	0.58432	0.1718:0.8282:0.0:0.0	.	1037	B5B2S0	.	E	1037;558	ENSP00000331324:Q1037E	ENSP00000331324:Q1037E	Q	+	1	0	NFATC3	66805735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.095000	0.50235	2.826000	0.97356	0.655000	0.94253	CAA	NFATC3	-	NULL		0.423	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68248234	1	no_errors	ENST00000329524	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68248234	C	G	68248234	1	3	111	0	1	0	0	0	0	0	0	0	10388	595	21	4		4	NFATC3	16	68248234	Intron	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	564496	68248234	22106519	173	16806										
ESRP2	80004	genome.wustl.edu	37	chr16	68265116	68265116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtggaggggacatgccactgCggcccaaggtgccccccatc	14	15	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:68265116C>T	ENST00000565858.1	-	12	1792	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.R559H	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	569					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CATGCCACTGCGGCCCAAGGT	0.632																																																	0													70	60	64					16																	68265116		2198	4300	6498	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1706G>A	16.37:g.68265116C>T	ENSP00000454554:p.Arg569His		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.R569H	ENST00000565858.1	37	c.1706		16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108068	0.77096	.	.	ENSG00000103067	ENST00000473183	T	0.11604	2.76	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	M	0.66939	2.045	0.80722	D	1	P;P	0.49185	0.92;0.548	B;B	0.41571	0.315;0.36	T	0.00865	-1.1535	10	0.62326	D	0.03	-16.4107	20.0368	0.97565	0.0:1.0:0.0:0.0	.	569;559	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	H	559	ENSP00000418748:R559H	ENSP00000418748:R559H	R	-	2	0	ESRP2	66822617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.735000	0.93741	0.563000	0.77884	CGC	ESRP2	-	NULL		0.632	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	C	NM_024939		68265116	-1	no_errors	ENST00000565858	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68265116	C	T	68265116	3	4	111	1	0	0	0	0	1	0	0	0	5271	768	27	2	493	2	ESRP2	16	68265116	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	16882	68265116	22089637	174	16807										
WFDC1	58189	genome.wustl.edu	37	chr16	84353120	84353120	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gccacatcctgagcccaggtGacgtggccgaaggtatcccc	12	15	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr16:84353120G>A	ENST00000219454.5	+	4	831	c.505G>A	c.(505-507)Gac>Aac	p.D169N	WFDC1_ENST00000568638.1_Missense_Mutation_p.D169N	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	169					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GAGCCCAGGTGACGTGGCCGA	0.667																																																	0													86	67	73					16																	84353120		2200	4300	6500	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.505G>A	16.37:g.84353120G>A	ENSP00000219454:p.Asp169Asn		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core	p.D169N	ENST00000219454.5	37	c.505	CCDS10946.1	16	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209095	0.09757	.	.	ENSG00000103175	ENST00000219454	T	0.30182	1.54	4.43	3.4	0.38934	.	0.053246	0.64402	D	0.000001	T	0.11281	0.0275	N	0.11201	0.11	0.39290	D	0.964726	B	0.32467	0.372	B	0.25614	0.062	T	0.12734	-1.0536	10	0.17832	T	0.49	-42.2978	4.3686	0.11237	0.2887:0.0:0.7113:0.0	.	169	Q9HC57	WFDC1_HUMAN	N	169	ENSP00000219454:D169N	ENSP00000219454:D169N	D	+	1	0	WFDC1	82910621	0.998000	0.40836	0.030000	0.17652	0.212000	0.24457	3.578000	0.53892	2.295000	0.77249	0.555000	0.69702	GAC	WFDC1	-	NULL		0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC1	HGNC	protein_coding	OTTHUMT00000269083.2	G			84353120	1	no_errors	ENST00000219454	ensembl	human	known	70_37	missense	SNP	0.827	A	A	84353120	G	A	84353120	3	1	111	1	0	0	0	0	1	0	0	0	17377	1290	45	1	519	1	WFDC1	16	84353120	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	16088004	84353120	6001633	175	16808										
ENO3	2027	genome.wustl.edu	37	chr17	4856159	4856159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggctctggaactaagagacgGagacaaaggccgctacctgg	14	10	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:4856159G>A	ENST00000323997.6	+	3	287	c.155G>A	c.(154-156)gGa>gAa	p.G52E	ENO3_ENST00000518175.1_Missense_Mutation_p.G52E|ENO3_ENST00000519584.1_Missense_Mutation_p.G52E	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	52					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTAAGAGACGGAGACAAAGGC	0.587																																																	0													33	33	33					17																	4856159		2203	4300	6503	SO:0001583	missense	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.155G>A	17.37:g.4856159G>A	ENSP00000324105:p.Gly52Glu		B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.G52E	ENST00000323997.6	37	c.155	CCDS11062.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383786	0.82792	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.71206	2.165	0.51233	D	0.999913	B;B	0.22080	0.064;0.045	B;B	0.38921	0.096;0.285	T	0.47142	-0.9140	10	0.59425	D	0.04	.	15.2036	0.73159	0.0:0.0:1.0:0.0	.	52;52	P13929-3;D3DTL2	.;.	E	52	ENSP00000428502:G52E;ENSP00000430055:G52E;ENSP00000324105:G52E;ENSP00000428811:G52E;ENSP00000430636:G52E;ENSP00000431087:G52E	ENSP00000324105:G52E	G	+	2	0	ENO3	4796905	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.961000	0.49168	2.460000	0.83146	0.655000	0.94253	GGA	ENO3	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase		0.587	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	G			4856159	1	no_errors	ENST00000323997	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4856159	G	A	4856159	3	1	111	1	0	0	0	0	1	0	0	0	5135	1174	41	1	161	1	ENO3	17	4856159	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		4856159	76339051	176	16809			3	72		4	4	944	G		6.951949e-08
ENO3	2027	genome.wustl.edu	37	chr17	4856627	4856627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgattgagctagatgggaccGagaataagtgtgagtgaagg	16	3	0	6			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:4856627G>A	ENST00000323997.6	+	5	433	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ENO3_ENST00000518175.1_Missense_Mutation_p.E101K|ENO3_ENST00000519584.1_Intron	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	101					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGATGGGACCGAGAATAAGTG	0.502																																																	0													117	121	120					17																	4856627		2203	4300	6503	SO:0001583	missense	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.301G>A	17.37:g.4856627G>A	ENSP00000324105:p.Glu101Lys		B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.E101K	ENST00000323997.6	37	c.301	CCDS11062.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.227650	0.95173	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000518175	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.73319	2.225	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.52710	0.707;0.707	T	0.49570	-0.8926	10	0.87932	D	0	-1.4986	17.6204	0.88079	0.0:0.0:1.0:0.0	.	8;101	D3DTL4;D3DTL2	.;.	K	101	ENSP00000428502:E101K;ENSP00000430055:E101K;ENSP00000324105:E101K;ENSP00000428811:E101K;ENSP00000431087:E101K	ENSP00000324105:E101K	E	+	1	0	ENO3	4797373	1.000000	0.71417	0.972000	0.41901	0.969000	0.65631	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GAG	ENO3	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase		0.502	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	G			4856627	1	no_errors	ENST00000323997	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4856627	G	A	4856627	3	1	111	1	0	0	0	0	1	0	0	0	5135	1059	37	1	315	1	ENO3	17	4856627	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	468	4856627	76338583	177	16810			3	72		4	4	944	G		6.951949e-08
ENO3	2027	genome.wustl.edu	37	chr17	4857069	4857069	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgtgtaaggcgggagcagctGagaagggggtccccctgtac	17	9	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:4857069G>A	ENST00000323997.6	+	6	505	c.373G>A	c.(373-375)Gag>Aag	p.E125K	ENO3_ENST00000518175.1_Missense_Mutation_p.E125K|ENO3_ENST00000519584.1_Missense_Mutation_p.E82K	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	125					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGAGCAGCTGAGAAGGGGGT	0.612																																																	0													108	97	101					17																	4857069		2203	4300	6503	SO:0001583	missense	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.373G>A	17.37:g.4857069G>A	ENSP00000324105:p.Glu125Lys		B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.E125K	ENST00000323997.6	37	c.373	CCDS11062.1	17	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845314	0.71603	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.53423	1.54;1.54;1.54;1.54;0.62;1.54	5.55	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.63428	1.95	0.58432	D	0.999999	B;B;B	0.18013	0.002;0.025;0.003	B;B;B	0.21546	0.018;0.035;0.02	T	0.46162	-0.9211	10	0.52906	T	0.07	-2.8613	12.7954	0.57556	0.0808:0.0:0.9192:0.0	.	82;32;125	P13929-3;D3DTL4;D3DTL2	.;.;.	K	125;125;125;125;82;125	ENSP00000428502:E125K;ENSP00000430055:E125K;ENSP00000324105:E125K;ENSP00000428811:E125K;ENSP00000430636:E82K;ENSP00000431087:E125K	ENSP00000324105:E125K	E	+	1	0	ENO3	4797815	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.925000	0.87563	1.453000	0.47775	0.655000	0.94253	GAG	ENO3	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase		0.612	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	G			4857069	1	no_errors	ENST00000323997	ensembl	human	known	70_37	missense	SNP	0.998	A	A	4857069	G	A	4857069	3	1	111	1	0	0	0	0	1	0	0	0	5135	1291	45	1	391	1	ENO3	17	4857069	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	442	4857069	76338141	178	16811			3	72		4	4	944	G		6.951949e-08
ENO3	2027	genome.wustl.edu	37	chr17	4857102	4857102	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccctgtaccgccacatcgcaGatctcgctgggaaccctgac	9	17	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:4857102G>A	ENST00000323997.6	+	6	538	c.406G>A	c.(406-408)Gat>Aat	p.D136N	ENO3_ENST00000518175.1_Missense_Mutation_p.D136N|ENO3_ENST00000519584.1_Missense_Mutation_p.D93N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	136					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CCACATCGCAGATCTCGCTGG	0.642																																																	0													110	97	101					17																	4857102		2203	4300	6503	SO:0001583	missense	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.406G>A	17.37:g.4857102G>A	ENSP00000324105:p.Asp136Asn		B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.D136N	ENST00000323997.6	37	c.406	CCDS11062.1	17	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771945	0.69992	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.52983	1.56;1.56;1.56;1.56;0.64;1.56	5.55	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.35487	1.065	0.80722	D	1	B;P;B	0.43701	0.018;0.815;0.007	B;B;B	0.42798	0.105;0.398;0.021	T	0.37454	-0.9705	10	0.56958	D	0.05	-18.9658	12.7954	0.57556	0.0808:0.0:0.9192:0.0	.	93;43;136	P13929-3;D3DTL4;D3DTL2	.;.;.	N	136;136;136;136;93;136	ENSP00000428502:D136N;ENSP00000430055:D136N;ENSP00000324105:D136N;ENSP00000428811:D136N;ENSP00000430636:D93N;ENSP00000431087:D136N	ENSP00000324105:D136N	D	+	1	0	ENO3	4797848	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.925000	0.87563	1.453000	0.47775	0.655000	0.94253	GAT	ENO3	-	pirsf_Enolase,tigrfam_Enolase		0.642	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	G			4857102	1	no_errors	ENST00000323997	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4857102	G	A	4857102	3	1	111	1	0	0	0	0	1	0	0	0	5135	942	33	1	424	1	ENO3	17	4857102	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	33	4857102	76338108	179	16812			3	72		4	4	944	G		6.951949e-08
ALOX15B	247	genome.wustl.edu	37	chr17	7950658	7950658	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agctccaggcctgggtcagaGagatcttctccaagggcttc	12	12	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:7950658G>C	ENST00000380183.4	+	11	1679	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	ALOX15B_ENST00000380173.2_Missense_Mutation_p.E485Q|ALOX15B_ENST00000572022.1_Missense_Mutation_p.E502Q|ALOX15B_ENST00000573359.1_Intron	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	514	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGGGTCAGAGAGATCTTCTC	0.552																																																	0													91	94	93					17																	7950658		2203	4300	6503	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1540G>C	17.37:g.7950658G>C	ENSP00000369530:p.Glu514Gln		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.E514Q	ENST00000380183.4	37	c.1540	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319935	0.81469	.	.	ENSG00000179593	ENST00000380173;ENST00000380183	D;D	0.94758	-3.51;-3.51	3.95	3.95	0.45737	Lipoxygenase, C-terminal (3);	0.217248	0.47093	D	0.000245	D	0.98043	0.9355	H	0.96518	3.835	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.75484	0.986;0.976;0.976	D	0.99222	1.0879	10	0.87932	D	0	-27.8311	15.3006	0.73949	0.0:0.0:1.0:0.0	.	502;485;514	B4DNW8;O15296-4;O15296	.;.;LX15B_HUMAN	Q	485;514	ENSP00000369520:E485Q;ENSP00000369530:E514Q	ENSP00000369520:E485Q	E	+	1	0	ALOX15B	7891383	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	8.994000	0.93529	2.206000	0.71126	0.655000	0.94253	GAG	ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C		0.552	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	G			7950658	1	no_errors	ENST00000380183	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7950658	G	C	7950658	3	2	111	1	0	0	0	0	1	0	0	0	539	943	33	1	1582	1	ALOX15B	17	7950658	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3093556	7950658	73244552	180	16813										
PFAS	5198	genome.wustl.edu	37	chr17	8159596	8159596	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cccctgcagcgagcacagccGacactggttcttcaagggcc	11	16	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:8159596G>T	ENST00000314666.6	+	7	825	c.692G>T	c.(691-693)cGa>cTa	p.R231L	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	231					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GAGCACAGCCGACACTGGTTC	0.567																																																	0													38	38	38					17																	8159596		2203	4300	6503	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.692G>T	17.37:g.8159596G>T	ENSP00000313490:p.Arg231Leu		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.R231L	ENST00000314666.6	37	c.692	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876146	0.91664	.	.	ENSG00000178921	ENST00000314666	T	0.33654	1.4	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84294	0.0501	10	0.87932	D	0	-6.0695	15.0476	0.71838	0.0:0.0:1.0:0.0	.	231	O15067	PUR4_HUMAN	L	231	ENSP00000313490:R231L	ENSP00000313490:R231L	R	+	2	0	PFAS	8100321	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.540000	0.67205	2.403000	0.81681	0.563000	0.77884	CGA	PFAS	-	tigrfam_PRibForGlyAmidine_synth		0.567	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	G			8159596	1	no_errors	ENST00000314666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8159596	G	T	8159596	3	4	111	1	0	0	0	0	1	0	0	0	11778	1058	37	3	714	3	PFAS	17	8159596	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	208938	8159596	73035614	181	16814										
MYOCD	93649	genome.wustl.edu	37	chr17	12666834	12666834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggagtggctggacctcactcCgccaaattccacaccaggct	10	15	1	0	rs139170912		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:12666834C>T	ENST00000343344.4	+	13	2690	c.2690C>T	c.(2689-2691)cCg>cTg	p.P897L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.P945L			Q8IZQ8	MYCD_HUMAN	myocardin	897					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GACCTCACTCCGCCAAATTCC	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		17530	0		0	False		,,,				2504	0																0								C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	68	61	63		2834,2690	6.1	0.9	17	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOCD	NM_001146312.1,NM_153604.2	98,98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	945/987,897/939	12666834	2,13004	2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2690C>T	17.37:g.12666834C>T	ENSP00000341835:p.Pro897Leu		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.P945L	ENST00000343344.4	37	c.2834	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679565	0.68042	2.27E-4	1.16E-4	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.46451	0.89;0.87	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.49542	-0.8929	10	0.02654	T	1	-20.3272	19.4349	0.94788	0.0:1.0:0.0:0.0	.	621;945;897	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	621;945;897;607	ENSP00000341835:P897L;ENSP00000400148:P607L	ENSP00000341835:P897L	P	+	2	0	MYOCD	12607559	1.000000	0.71417	0.946000	0.38457	0.430000	0.31655	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	CCG	MYOCD	-	NULL		0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	C	NM_153604		12666834	1	no_errors	ENST00000425538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12666834	C	T	12666834	3	4	111	1	0	0	0	0	1	0	0	0	10110	652	23	2	2900	2	MYOCD	17	12666834	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4507238	12666834	68528376	182	16815										
KIAA0100	9703	genome.wustl.edu	37	chr17	26969347	26969347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttacataagctcacctcacaGattagcctgggaaaggaaaa	8	9	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:26969347G>C	ENST00000528896.2	-	6	596	c.522C>G	c.(520-522)atC>atG	p.I174M	KIAA0100_ENST00000544884.1_Missense_Mutation_p.I31M|KIAA0100_ENST00000389003.3_Missense_Mutation_p.I31M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	174						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCACCTCACAGATTAGCCTGG	0.512																																																	0													81	75	77					17																	26969347		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.522C>G	17.37:g.26969347G>C	ENSP00000436773:p.Ile174Met		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.I174M	ENST00000528896.2	37	c.522	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601518	0.28534	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22539	1.95;1.96	4.29	1.01	0.19927	FMP27, N-terminal (1);	0.624751	0.18570	N	0.137362	T	0.08492	0.0211	N	0.08118	0	0.22354	N	0.99918	P;B;P	0.41345	0.746;0.044;0.555	B;B;B	0.38562	0.276;0.04;0.2	T	0.16748	-1.0392	10	0.52906	T	0.07	.	3.1328	0.06429	0.1628:0.117:0.56:0.1603	.	31;174;174	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	174;174;174;31	ENSP00000436773:I174M;ENSP00000446443:I31M	ENSP00000005905:I174M	I	-	3	3	KIAA0100	23993474	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	0.984000	0.29565	0.050000	0.15949	-0.291000	0.09656	ATC	KIAA0100	-	pfam_FMP27_N		0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26969347	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	0.993	C	C	26969347	G	C	26969347	3	2	111	1	0	0	0	0	1	0	0	0	8174	932	33	1	6321	1	KIAA0100	17	26969347	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	14302513	26969347	54225863	183	16816			4	73	22112245	4	4	947	N	G_C	7.018455e-08
KIAA0100	9703	genome.wustl.edu	37	chr17	26969920	26969920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tatccaaaagaaatctgcttCtactgatctgaatatgccat	5	9	3	3	rs137954415		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:26969920C>G	ENST00000528896.2	-	5	556	c.482G>C	c.(481-483)aGa>aCa	p.R161T	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R18T|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R18T	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	161						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCTGCTTCTACTGATCTG	0.453																																																	0													121	113	116					17																	26969920		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.482G>C	17.37:g.26969920C>G	ENSP00000436773:p.Arg161Thr		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R161T	ENST00000528896.2	37	c.482	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130990	0.37630	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22945	1.97;1.93	5.52	4.51	0.55191	FMP27, N-terminal (1);	0.337902	0.35262	N	0.003335	T	0.15219	0.0367	N	0.24115	0.695	0.22961	N	0.998507	P;B;B	0.37276	0.589;0.145;0.009	B;B;B	0.39027	0.288;0.05;0.022	T	0.14144	-1.0483	10	0.15952	T	0.53	.	6.1036	0.20061	0.0:0.6056:0.0:0.3943	.	18;161;161	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	T	161;161;161;18	ENSP00000436773:R161T;ENSP00000446443:R18T	ENSP00000005905:R161T	R	-	2	0	KIAA0100	23994047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.520000	0.35899	1.157000	0.42530	0.655000	0.94253	AGA	KIAA0100	-	pfam_FMP27_N		0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26969920	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	0.995	G	G	26969920	C	G	26969920	3	3	111	1	0	0	0	0	1	0	0	0	8174	913	32	1	6365	1	KIAA0100	17	26969920	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	573	26969920	54225290	184	16817			4	73	22112245	4	4	947	N	G_C	7.018455e-08
KIAA0100	9703	genome.wustl.edu	37	chr17	26970223	26970223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggatgggctgaaggacagttCcttttgatccaccccagcgc	12	12	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:26970223C>T	ENST00000528896.2	-	4	429	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	119						extracellular region (GO:0005576)		p.K118_E119>N*(1)|p.E119*(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAGGACAGTTCCTTTTGATCC	0.493																																																	2	Substitution - Nonsense(1)|Complex - compound substitution(1)	lung(2)											121	126	124					17																	26970223		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.355G>A	17.37:g.26970223C>T	ENSP00000436773:p.Glu119Lys		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.E119K	ENST00000528896.2	37	c.355	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793262	0.31685	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.21734	1.99	5.53	3.5	0.40072	FMP27, N-terminal (1);	0.397955	0.30959	N	0.008529	T	0.09949	0.0244	N	0.12182	0.205	0.46564	D	0.999108	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.15983	-1.0418	10	0.18276	T	0.48	.	7.6658	0.28430	0.1642:0.7534:0.0:0.0825	.	119;119	F6XS94;Q14667	.;K0100_HUMAN	K	119	ENSP00000436773:E119K	ENSP00000005905:E119K	E	-	1	0	KIAA0100	23994350	0.583000	0.26757	0.961000	0.40146	0.956000	0.61745	1.504000	0.35726	1.295000	0.44724	0.563000	0.77884	GAA	KIAA0100	-	pfam_FMP27_N		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26970223	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	0.627	T	T	26970223	C	T	26970223	3	4	111	1	0	0	0	0	1	0	0	0	8174	864	30	1	6496	1	KIAA0100	17	26970223	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	303	26970223	54224987	185	16818			4	73	22112245	4	4	947	N	G_C	7.018455e-08
KIAA0100	9703	genome.wustl.edu	37	chr17	26970293	26970293	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	actttctgtaggtccgttctGatacgcacttctccaaagca	7	12	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:26970293G>A	ENST00000528896.2	-	4	359	c.285C>T	c.(283-285)atC>atT	p.I95I	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	95						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGTCCGTTCTGATACGCACTT	0.517																																																	0													121	124	123					17																	26970293		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.285C>T	17.37:g.26970293G>A			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	NULL	p.Q79*	ENST00000528896.2	37	c.235	CCDS32595.1	17																																																																																			KIAA0100	-	NULL		0.517	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26970293	-1	no_errors	ENST00000583403	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	26970293	G	A	26970293	2	1	111	1	0	0	0	0	0	0	0	1	8174	1280	45	1		1	KIAA0100	17	26970293	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	70	26970293	54224917	186	16819			4	73	22112245	4	4	947	N	G_C	7.018455e-08
ADAP2	55803	genome.wustl.edu	37	chr17	29283385	29283385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tcaccattgtcaccccagagCggagatttgtcctcacttgc	8	14	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:29283385C>T	ENST00000330889.3	+	10	1344	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	ADAP2_ENST00000580525.1_Missense_Mutation_p.R343W|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	337	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CACCCCAGAGCGGAGATTTGT	0.577																																																	1	Unknown(1)	central_nervous_system(1)											87	74	78					17																	29283385		2203	4300	6503	SO:0001583	missense	55803			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.1009C>T	17.37:g.29283385C>T	ENSP00000329468:p.Arg337Trp		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R337W	ENST00000330889.3	37	c.1009	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981379	0.18812	.	.	ENSG00000184060	ENST00000330889	T	0.40756	1.02	4.94	2.84	0.33178	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.92784	3.345	0.52501	D	0.999951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76263	-0.3023	10	0.87932	D	0	.	11.1838	0.48644	0.4571:0.5429:0.0:0.0	.	343;336;337	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	W	337	ENSP00000329468:R337W	ENSP00000329468:R337W	R	+	1	2	ADAP2	26307511	0.017000	0.18338	0.131000	0.22000	0.583000	0.36354	0.149000	0.16243	1.305000	0.44909	-0.475000	0.04921	CGG	ADAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.577	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	C	NM_018404		29283385	1	no_errors	ENST00000330889	ensembl	human	known	70_37	missense	SNP	0.776	T	T	29283385	C	T	29283385	3	4	111	1	0	0	0	0	1	0	0	0	280	759	27	2	1047	2	ADAP2	17	29283385	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2313092	29283385	51911825	187	16820										
LIG3	3980	genome.wustl.edu	37	chr17	33318059	33318059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	agactgtttacaacttgaacGataagcagattgtgaagctt	9	6	0	4	rs148073351		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:33318059G>A	ENST00000378526.4	+	5	1100	c.967G>A	c.(967-969)Gat>Aat	p.D323N	LIG3_ENST00000262327.5_Missense_Mutation_p.D323N	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	323					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAACTTGAACGATAAGCAGAT	0.488								Other BER factors																																									0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	127	115	119		967,967	5.7	1	17	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LIG3	NM_002311.4,NM_013975.3	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	323/950,323/1010	33318059	1,13005	2203	4300	6503	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.967G>A	17.37:g.33318059G>A	ENSP00000367787:p.Asp323Asn		Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.D323N	ENST00000378526.4	37	c.967	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	G	31	5.099699	0.94197	0.0	1.16E-4	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.18502	2.21;2.21	5.65	5.65	0.86999	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	L	0.28556	0.865	0.80722	D	1	P;P;P	0.41102	0.738;0.738;0.738	B;B;B	0.38683	0.279;0.279;0.218	T	0.01276	-1.1398	10	0.39692	T	0.17	-18.6325	18.891	0.92403	0.0:0.0:1.0:0.0	.	323;323;323	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	N	323	ENSP00000367787:D323N;ENSP00000262327:D323N	ENSP00000262327:D323N	D	+	1	0	LIG3	30342172	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.419000	0.97397	2.941000	0.99782	0.655000	0.94253	GAT	LIG3	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep		0.488	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	G	NM_013975		33318059	1	no_errors	ENST00000378526	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33318059	G	A	33318059	3	1	111	1	0	0	0	0	1	0	0	0	8802	1058	37	1	981	1	LIG3	17	33318059	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4034674	33318059	47877151	188	16821										
HNF1B	6928	genome.wustl.edu	37	chr17	36099473	36099473	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tctgacgtaccaggtgtacaGagcggcacgcttctgggtct	13	11	3	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:36099473G>C	ENST00000225893.4	-	2	863	c.502C>G	c.(502-504)Ctg>Gtg	p.L168V	HNF1B_ENST00000560016.1_Missense_Mutation_p.L168V|HNF1B_ENST00000561193.1_Missense_Mutation_p.L168V|HNF1B_ENST00000427275.2_Missense_Mutation_p.L168V	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	168					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CAGGTGTACAGAGCGGCACGC	0.582																																					Colon(71;102 1179 9001 27917 43397)												0													170	148	155					17																	36099473		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.502C>G	17.37:g.36099473G>C	ENSP00000225893:p.Leu168Val		B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.L168V	ENST00000225893.4	37	c.502	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180961	0.78677	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.99239	-5.61;-5.61	5.96	5.0	0.66597	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.998	D	0.99509	1.0955	10	0.87932	D	0	-8.6006	10.3951	0.44196	0.1475:0.0:0.8525:0.0	.	168;168	E0YMJ6;P35680	.;HNF1B_HUMAN	V	168;168;168;56	ENSP00000225893:L168V;ENSP00000412212:L168V	ENSP00000225893:L168V	L	-	1	2	HNF1B	33173586	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.637000	0.83313	1.535000	0.49220	0.655000	0.94253	CTG	HNF1B	-	pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom		0.582	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	G	NM_000458		36099473	-1	no_errors	ENST00000225893	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36099473	G	C	36099473	3	2	111	1	0	0	0	0	1	0	0	0	7272	933	33	1	1203	1	HNF1B	17	36099473	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2781414	36099473	45095737	189	16822										
FBXL20	84961	genome.wustl.edu	37	chr17	37499487	37499487	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ttacagcttcatcactatttGagaacatctgcaaaaacaaa	4	9	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:37499487G>C	ENST00000264658.6	-	2	310	c.50C>G	c.(49-51)tCa>tGa	p.S17*	FBXL20_ENST00000583610.1_Nonsense_Mutation_p.S17*|FBXL20_ENST00000577399.1_Nonsense_Mutation_p.S19*|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.S17*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	17				S -> P (in Ref. 1; BAF84533). {ECO:0000305}.	behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			ATCACTATTTGAGAACATCTG	0.313																																																	0													87	86	87					17																	37499487		2203	4296	6499	SO:0001587	stop_gained	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.50C>G	17.37:g.37499487G>C	ENSP00000264658:p.Ser17*		A8K729|Q38J52	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S17*	ENST00000264658.6	37	c.50	CCDS32640.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.858230	0.97036	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	5.42	5.42	0.78866	.	0.143577	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.1193	0.81336	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000264658:S17X	S	-	2	0	FBXL20	34753013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.736000	0.74811	2.517000	0.84864	0.643000	0.83706	TCA	FBXL20	-	NULL		0.313	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	G	NM_032875		37499487	-1	no_errors	ENST00000264658	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	37499487	G	C	37499487	4	2	111	1	0	0	0	0	0	1	0	0	5735	1294	45	1	1316	1	FBXL20	17	37499487	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	1400014	37499487	43695723	190	16823										
KRT34	3885	genome.wustl.edu	37	chr17	39535335	39535335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	acagcggatctctgccagctGagactccacgttggtgatca	11	12	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:39535335G>A	ENST00000394001.1	-	6	1126	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	366	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTGCCAGCTGAGACTCCACG	0.617																																																	0													128	109	115					17																	39535335		2203	4300	6503	SO:0001587	stop_gained	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1096C>T	17.37:g.39535335G>A	ENSP00000377570:p.Gln366*		Q8IUT8|Q8N4W2	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Q366*	ENST00000394001.1	37	c.1096	CCDS11390.1	17	.	.	.	.	.	.	.	.	.	.	N	14.16	2.453421	0.43531	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.2057	0.65732	0.0:0.1614:0.8386:0.0	.	.	.	.	X	324;366	.	ENSP00000251648:Q366X	Q	-	1	0	KRT34	36788861	0.992000	0.36948	0.951000	0.38953	0.024000	0.10985	2.084000	0.41625	2.512000	0.84698	0.650000	0.86243	CAG	KRT34	-	pfam_F,prints_Keratin_I		0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	G	NM_021013		39535335	-1	no_errors	ENST00000394001	ensembl	human	known	70_37	nonsense	SNP	0.970	A	A	39535335	G	A	39535335	4	1	111	1	0	0	0	0	0	1	0	0	8491	1299	45	1	222	1	KRT34	17	39535335	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2035848	39535335	41659875	191	16824										
EFTUD2	9343	genome.wustl.edu	37	chr17	42949823	42949823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccagcgcttaccaaaggtgtCggcatagatcttggcaaagg	12	10	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:42949823C>T	ENST00000426333.2	-	11	1282	c.985G>A	c.(985-987)Gac>Aac	p.D329N	EFTUD2_ENST00000402521.3_Missense_Mutation_p.D294N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D329N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D319N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	329	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAAAGGTGTCGGCATAGATC	0.542																																					Ovarian(10;65 485 10258 29980 30707)												0													179	172	174					17																	42949823		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.985G>A	17.37:g.42949823C>T	ENSP00000392094:p.Asp329Asn		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.D329N	ENST00000426333.2	37	c.985	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947340	0.73672	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77098	-1.07;-1.07	6.16	6.16	0.99307	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	L	0.52905	1.665	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.18263	0.021;0.021	T	0.69606	-0.5100	10	0.46703	T	0.11	-16.2074	20.8598	0.99761	0.0:1.0:0.0:0.0	.	319;329	B4DMC0;Q15029	.;U5S1_HUMAN	N	329;319;294	ENSP00000392094:D329N;ENSP00000385873:D294N	ENSP00000262414:D319N	D	-	1	0	EFTUD2	40305349	1.000000	0.71417	0.984000	0.44739	0.780000	0.44128	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAC	EFTUD2	-	pfam_EF_GTP-bd_dom		0.542	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	C	NM_004247		42949823	-1	no_errors	ENST00000426333	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42949823	C	T	42949823	3	4	111	1	0	0	0	0	1	0	0	0	4971	884	31	1	2005	1	EFTUD2	17	42949823	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	3414488	42949823	38245387	192	16825										
HEATR6	63897	genome.wustl.edu	37	chr17	58156276	58156276	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	acaacttgcacagcagccatCttttctacgggcgggggggg	14	11	2	0	rs558396689	byFrequency	TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:58156276C>G	ENST00000184956.6	-	0	16				CTD-2319I12.2_ENST00000589740.1_lincRNA|HEATR6_ENST00000585976.1_5'UTR|HEATR6_ENST00000585712.1_5'UTR	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6								poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAGCAGCCATCTTTTCTACGG	0.607																																																	0													9	8	8					17																	58156276		2159	4248	6407	SO:0001623	5_prime_UTR_variant	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.-1G>C	17.37:g.58156276C>G			B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	RNA	SNP	-	NULL	ENST00000184956.6	37	NULL	CCDS11623.1	17																																																																																			HEATR6	-	-		0.607	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	C	NM_022070		58156276	-1	no_errors	ENST00000585712	ensembl	human	known	70_37	rna	SNP	0.649	G	G	58156276	C	G	58156276	1	3	111	0	1	0	0	0	0	0	0	0	7053	928	32	1		1	HEATR6	17	58156276	5'UTR	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	15206453	58156276	23038934	193	16826										
CCDC40	55036	genome.wustl.edu	37	chr17	78055562	78055562	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggctcaccctgcaggacacaGaggatgccctcagccaggac	12	15	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:78055562G>C	ENST00000397545.4	+	11	1807	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	CCDC40_ENST00000374877.3_Missense_Mutation_p.E594Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	594					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGGACACAGAGGATGCCCT	0.652																																																	0													30	33	32					17																	78055562		2088	4207	6295	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1780G>C	17.37:g.78055562G>C	ENSP00000380679:p.Glu594Gln		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E594Q	ENST00000397545.4	37	c.1780	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080097	0.36662	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.57752	0.38;0.38	5.25	5.25	0.73442	.	.	.	.	.	T	0.63510	0.2517	L	0.53249	1.67	0.34390	D	0.694051	D;D	0.71674	0.993;0.998	P;P	0.58820	0.803;0.846	T	0.69895	-0.5021	9	0.32370	T	0.25	-32.9267	15.9389	0.79739	0.0:0.135:0.865:0.0	.	594;377	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	Q	594	ENSP00000364011:E594Q;ENSP00000380679:E594Q	ENSP00000364011:E594Q	E	+	1	0	CCDC40	75670157	1.000000	0.71417	0.116000	0.21606	0.005000	0.04900	5.373000	0.66162	2.426000	0.82243	0.655000	0.94253	GAG	CCDC40	-	NULL		0.652	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	G	XM_371082		78055562	1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	0.739	C	C	78055562	G	C	78055562	3	2	111	1	0	0	0	0	1	0	0	0	2817	943	33	1	1822	1	CCDC40	17	78055562	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	19899286	78055562	3139648	194	16827										
C17orf56	146705	genome.wustl.edu	37	chr17	79211199	79211199	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaggatactagcaatctcttCaaacaggtagcccggacacg	9	11	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:79211199C>T	ENST00000300714.3	-	2	166	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	ENTHD2_ENST00000575961.1_5'Flank|C17orf89_ENST00000431388.2_5'Flank|ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	37	ENTH.					cytoplasmic vesicle (GO:0031410)											GCAATCTCTTCAAACAGGTAG	0.552																																																	0													70	57	62					17																	79211199		2200	4297	6497	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.109G>A	17.37:g.79211199C>T	ENSP00000300714:p.Glu37Lys		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.E37K	ENST00000300714.3	37	c.109	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321541	0.60634	.	.	ENSG00000167302	ENST00000300714	T	0.42131	0.98	5.03	5.03	0.67393	Epsin domain, N-terminal (1);ENTH/VHS (2);	0.053822	0.64402	D	0.000001	T	0.63510	0.2517	M	0.78049	2.395	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	T	0.67998	-0.5525	10	0.56958	D	0.05	-19.7255	17.9732	0.89119	0.0:1.0:0.0:0.0	.	37	Q96N21	CQ056_HUMAN	K	37	ENSP00000300714:E37K	ENSP00000300714:E37K	E	-	1	0	C17orf56	76825794	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.427000	0.52785	2.336000	0.79503	0.651000	0.88453	GAA	ENTHD2	-	pfam_Epsin_dom_N,superfamily_ENTH_VHS		0.552	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	C	NM_144679		79211199	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79211199	C	T	79211199	3	4	111	1	0	0	0	0	1	0	0	0	1868	835	29	1	1512	1	C17orf56	17	79211199	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1155637	79211199	1984011	195	16828										
RFNG	5986	genome.wustl.edu	37	chr17	80008563	80008563	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cccggactcaatgaacttgtCatactccacggacatcttgc	7	14	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr17:80008563C>T	ENST00000310496.4	-	3	401	c.394G>A	c.(394-396)Gac>Aac	p.D132N	GPS1_ENST00000578552.1_5'Flank|GPS1_ENST00000392358.2_5'Flank|GPS1_ENST00000320548.4_5'Flank|RFNG_ENST00000584838.1_5'UTR|GPS1_ENST00000306823.6_5'Flank|GPS1_ENST00000355130.2_5'Flank|RFNG_ENST00000429557.3_Missense_Mutation_p.D6N	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	132					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ATGAACTTGTCATACTCCACG	0.632																																																	0													123	109	114					17																	80008563		2203	4300	6503	SO:0001583	missense	5986			BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"Beta 3-glycosyltransferases"	9974	protein-coding gene	gene with protein product		602578	"radical fringe (Drosophila) homolog", "radical fringe homolog (Drosophila)"			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.394G>A	17.37:g.80008563C>T	ENSP00000307971:p.Asp132Asn		O00588	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.D132N	ENST00000310496.4	37	c.394	CCDS32773.1	17	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849965	0.71603	.	.	ENSG00000169733	ENST00000310496;ENST00000429557	T	0.71103	-0.54	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.87900	2.915	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.87479	0.2419	10	0.49607	T	0.09	-21.4937	15.2582	0.73601	0.0:1.0:0.0:0.0	.	132	Q9Y644	RFNG_HUMAN	N	132;91	ENSP00000307971:D132N	ENSP00000307971:D132N	D	-	1	0	RFNG	77601852	1.000000	0.71417	0.773000	0.31616	0.086000	0.17979	5.454000	0.66651	1.563000	0.49615	0.561000	0.74099	GAC	RFNG	-	pfam_Fringe-like,pirsf_Fringe		0.632	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFNG	HGNC	protein_coding	OTTHUMT00000442263.1	C	NM_002917		80008563	-1	no_errors	ENST00000310496	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80008563	C	T	80008563	3	4	111	1	0	0	0	0	1	0	0	0	13282	826	29	1	625	1	RFNG	17	80008563	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	797364	80008563	1186647	196	16829										
NDC80	10403	genome.wustl.edu	37	chr18	2616517	2616517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	atctctcggaaaatattaaaGagattagagataagtatgag	9	3	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr18:2616517G>C	ENST00000261597.4	+	17	2055	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	625	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAATATTAAAGAGATTAGAGA	0.299																																																	0													40	43	42					18																	2616517		2199	4282	6481	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1873G>C	18.37:g.2616517G>C	ENSP00000261597:p.Glu625Gln		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E625Q	ENST00000261597.4	37	c.1873	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	7.891	0.732376	0.15507	.	.	ENSG00000080986	ENST00000261597	T	0.49432	0.78	5.47	4.59	0.56863	.	0.333418	0.34245	N	0.004123	T	0.34948	0.0915	L	0.47716	1.5	0.28039	N	0.933831	P	0.39216	0.664	B	0.34242	0.178	T	0.18871	-1.0323	10	0.15066	T	0.55	-4.8199	10.1561	0.42823	0.0768:0.137:0.7862:0.0	.	625	O14777	NDC80_HUMAN	Q	625	ENSP00000261597:E625Q	ENSP00000261597:E625Q	E	+	1	0	NDC80	2606517	1.000000	0.71417	0.991000	0.47740	0.167000	0.22549	2.210000	0.42816	1.407000	0.46875	0.555000	0.69702	GAG	NDC80	-	NULL		0.299	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2616517	1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	0.974	C	C	2616517	G	C	2616517	3	2	111	1	0	0	0	0	1	0	0	0	10266	943	33	1	1935	1	NDC80	18	2616517	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		2616517	75460731	197	16830										
CABYR	26256	genome.wustl.edu	37	chr18	21723170	21723170	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgttctcaaaaccaacccatCaaacatcaaccagtttgcag	4	13	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr18:21723170C>G	ENST00000399496.3	+	2	257	c.92C>G	c.(91-93)tCa>tGa	p.S31*	CABYR_ENST00000581397.1_Nonsense_Mutation_p.S31*|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000415309.2_Nonsense_Mutation_p.S31*|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Nonsense_Mutation_p.S31*	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	31	RIIa.				epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ACCAACCCATCAAACATCAAC	0.388																																																	0													105	100	102					18																	21723170		2203	4300	6503	SO:0001587	stop_gained	26256			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.92C>G	18.37:g.21723170C>G	ENSP00000382419:p.Ser31*		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Nonsense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.S31*	ENST00000399496.3	37	c.92	CCDS42420.1	18	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027528	0.35797	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399499	.	.	.	5.59	3.72	0.42706	.	1.228020	0.05638	N	0.582895	.	.	.	.	.	.	0.20821	N	0.999846	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.669	9.824	0.40901	0.2764:0.5898:0.1338:0.0	.	.	.	.	X	31	.	ENSP00000382419:S31X	S	+	2	0	CABYR	19977168	0.001000	0.12720	0.843000	0.33291	0.003000	0.03518	0.222000	0.17699	1.319000	0.45190	0.655000	0.94253	TCA	CABYR	-	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b		0.388	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABYR	HGNC	protein_coding	OTTHUMT00000090926.2	C	NM_153770		21723170	1	no_errors	ENST00000463087	ensembl	human	known	70_37	nonsense	SNP	0.258	G	G	21723170	C	G	21723170	4	3	111	1	0	0	0	0	0	1	0	0	2541	838	29	1	94	1	CABYR	18	21723170	Nonsense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	19106653	21723170	56354078	198	16831										
KLHL14	57565	genome.wustl.edu	37	chr18	30257279	30257279	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gcattccacaagcattacatCaaggtgggagaaacctaagt	9	9	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr18:30257279C>G	ENST00000359358.4	-	8	2041	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	535						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCATTACATCAAGGTGGGAG	0.443																																																	0													87	74	79					18																	30257279		2203	4300	6503	SO:0001583	missense	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1603G>C	18.37:g.30257279C>G	ENSP00000352314:p.Asp535His		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D535H	ENST00000359358.4	37	c.1603	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697360	0.88830	.	.	ENSG00000197705	ENST00000359358	T	0.66638	-0.22	5.73	5.73	0.89815	Galactose oxidase, beta-propeller (1);	0.000000	0.48767	U	0.000167	T	0.81259	0.4785	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81106	-0.1083	10	0.66056	D	0.02	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	535	Q9P2G3	KLH14_HUMAN	H	535	ENSP00000352314:D535H	ENSP00000352314:D535H	D	-	1	0	KLHL14	28511277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.854000	0.98071	0.655000	0.94253	GAT	KLHL14	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.443	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	C			30257279	-1	no_errors	ENST00000359358	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30257279	C	G	30257279	3	3	111	1	0	0	0	0	1	0	0	0	8390	826	29	1	291	1	KLHL14	18	30257279	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	8534109	30257279	47819969	199	16832										
ALPK2	115701	genome.wustl.edu	37	chr18	56247685	56247685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagacaattgtgggttctctGatgagcactcaacctcaacg	10	10	3	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr18:56247685G>A	ENST00000361673.3	-	4	536	c.323C>T	c.(322-324)tCa>tTa	p.S108L	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	108	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGGTTCTCTGATGAGCACTC	0.438																																																	0													204	185	191					18																	56247685		1954	4152	6106	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.323C>T	18.37:g.56247685G>A	ENSP00000354991:p.Ser108Leu		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S108L	ENST00000361673.3	37	c.323	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675258	0.47781	.	.	ENSG00000198796	ENST00000361673	T	0.49720	0.77	5.12	2.31	0.28768	Immunoglobulin-like (1);	.	.	.	.	T	0.30355	0.0762	N	0.25647	0.755	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.22103	-1.0226	9	0.45353	T	0.12	1.23	3.4232	0.07401	0.2505:0.0:0.4296:0.3198	.	108	Q86TB3	ALPK2_HUMAN	L	108	ENSP00000354991:S108L	ENSP00000354991:S108L	S	-	2	0	ALPK2	54398665	0.000000	0.05858	0.000000	0.03702	0.597000	0.36814	0.700000	0.25601	0.305000	0.22832	0.467000	0.42956	TCA	ALPK2	-	pfscan_Ig-like		0.438	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56247685	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56247685	G	A	56247685	3	1	111	1	0	0	0	0	1	0	0	0	545	1294	45	1	6229	1	ALPK2	18	56247685	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	25990406	56247685	21829563	200	16833										
GRIN3B	116444	genome.wustl.edu	37	chr19	1005526	1005526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tcggggacaagaccttcgagGagctgtcggggatccacgac	15	11	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:1005526G>A	ENST00000234389.3	+	3	2045	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	676					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GACCTTCGAGGAGCTGTCGGG	0.701																																																	0													24	24	24					19																	1005526		2199	4299	6498	SO:0001583	missense	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2026G>A	19.37:g.1005526G>A	ENSP00000234389:p.Glu676Lys		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E676K	ENST00000234389.3	37	c.2026	CCDS32861.1	19	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170375	0.38315	.	.	ENSG00000116032	ENST00000234389	T	0.53206	0.63	4.36	3.31	0.37934	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.176041	0.47852	D	0.000214	T	0.47097	0.1427	L	0.47716	1.5	0.39846	D	0.973176	P	0.43578	0.811	P	0.45660	0.489	T	0.52548	-0.8561	10	0.62326	D	0.03	.	13.0608	0.59005	0.0:0.1633:0.8367:0.0	.	676	O60391	NMD3B_HUMAN	K	676	ENSP00000234389:E676K	ENSP00000234389:E676K	E	+	1	0	GRIN3B	956526	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	3.698000	0.54771	0.844000	0.35094	-0.837000	0.03062	GAG	GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.701	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	G			1005526	1	no_errors	ENST00000234389	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1005526	G	A	1005526	3	1	111	1	0	0	0	0	1	0	0	0	6804	1175	41	1	2036	1	GRIN3B	19	1005526	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		1005526	58123457	201	16834										
ZNF556	80032	genome.wustl.edu	37	chr19	2877608	2877608	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	catttcttcgttcccactctCtcactgaacatgtaaggact	5	13	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:2877608C>G	ENST00000307635.2	+	4	739	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V	ZNF556_ENST00000586426.1_Missense_Mutation_p.L217V	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCCACTCTCTCACTGAACA	0.498																																																	0													75	77	76					19																	2877608		2203	4300	6503	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.652C>G	19.37:g.2877608C>G	ENSP00000302603:p.Leu218Val		Q96GM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L218V	ENST00000307635.2	37	c.652	CCDS12097.1	19	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294420	0.23564	.	.	ENSG00000172000	ENST00000307635	T	0.52983	0.64	2.44	0.0477	0.14281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58293	0.2112	M	0.89534	3.04	0.09310	N	1	P	0.41624	0.757	P	0.47744	0.556	T	0.53330	-0.8454	9	0.62326	D	0.03	.	4.8031	0.13307	0.0:0.6342:0.2223:0.1435	.	218	Q9HAH1	ZN556_HUMAN	V	218	ENSP00000302603:L218V	ENSP00000302603:L218V	L	+	1	0	ZNF556	2828608	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.019000	0.12546	-0.150000	0.11195	0.407000	0.27541	CTC	ZNF556	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	C	NM_024967		2877608	1	no_errors	ENST00000307635	ensembl	human	known	70_37	missense	SNP	0.000	G	G	2877608	C	G	2877608	3	3	111	1	0	0	0	0	1	0	0	0	18017	913	32	1	666	1	ZNF556	19	2877608	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1872082	2877608	56251375	202	16835										
STXBP2	6813	genome.wustl.edu	37	chr19	7709550	7709550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagaagatcaaggactccatGaagctgatcgttccggtgct	12	9	1	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:7709550G>A	ENST00000221283.5	+	14	1189	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000414284.2_Missense_Mutation_p.M383I|STXBP2_ENST00000441779.2_Missense_Mutation_p.M397I	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	386					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGACTCCATGAAGCTGATCG	0.657																																																	0													73	52	59					19																	7709550		2203	4300	6503	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1158G>A	19.37:g.7709550G>A	ENSP00000221283:p.Met386Ile		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.M386I	ENST00000221283.5	37	c.1158	CCDS12181.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949457	0.73787	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.78924	-1.22;-1.22;-1.22	4.02	4.02	0.46733	.	0.098718	0.64402	D	0.000003	T	0.77572	0.4150	L	0.38838	1.175	0.80722	D	1	P;P;B;P;P	0.50443	0.935;0.935;0.012;0.92;0.935	P;P;B;P;P	0.53760	0.734;0.734;0.03;0.615;0.734	T	0.79780	-0.1659	10	0.56958	D	0.05	-11.222	13.6988	0.62595	0.0:0.0:1.0:0.0	.	397;397;352;383;386	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	I	386;383;397;386	ENSP00000221283:M386I;ENSP00000409471:M383I;ENSP00000413606:M397I	ENSP00000221283:M386I	M	+	3	0	STXBP2	7615550	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	9.569000	0.98170	2.088000	0.63022	0.591000	0.81541	ATG	STXBP2	-	pfam_Sec1-like,superfamily_Sec1-like		0.657	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	HGNC	protein_coding	OTTHUMT00000460963.1	G	NM_006949		7709550	1	no_errors	ENST00000221283	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7709550	G	A	7709550	3	1	111	1	0	0	0	0	1	0	0	0	15383	1290	45	1	1212	1	STXBP2	19	7709550	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4831942	7709550	51419433	203	16836										
FBN3	84467	genome.wustl.edu	37	chr19	8182454	8182454	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tggggacacaggccatcactCagggagcactcatcgatgtc	12	12	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:8182454C>G	ENST00000600128.1	-	27	3771	c.3357G>C	c.(3355-3357)ctG>ctC	p.L1119L	FBN3_ENST00000270509.2_Silent_p.L1119L|FBN3_ENST00000601739.1_Silent_p.L1119L			Q75N90	FBN3_HUMAN	fibrillin 3	1119	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCATCACTCAGGGAGCACT	0.612																																																	0													58	42	47					19																	8182454		2190	4275	6465	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3357G>C	19.37:g.8182454C>G			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.L1119	ENST00000600128.1	37	c.3357	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	C	NM_032447		8182454	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	silent	SNP	1.000	G	G	8182454	C	G	8182454	2	3	111	1	0	0	0	0	0	0	0	1	5722	813	29	1		1	FBN3	19	8182454	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	472904	8182454	50946529	204	16837										
OR7G1	125962	genome.wustl.edu	37	chr19	9225957	9225957	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaggacagctgcaataccatCagactctgaaccagggcatc	9	12	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:9225957C>G	ENST00000541538.1	-	1	482	c.483G>C	c.(481-483)ctG>ctC	p.L161L	OR7G1_ENST00000293614.1_Silent_p.L161L	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GCAATACCATCAGACTCTGAA	0.478																																																	0													114	105	108					19																	9225957		2203	4300	6503	SO:0001819	synonymous_variant	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.483G>C	19.37:g.9225957C>G			Q6IFJ5|Q96RA1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L161	ENST00000541538.1	37	c.483	CCDS32898.2	19																																																																																			OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	C			9225957	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	silent	SNP	0.000	G	G	9225957	C	G	9225957	2	3	111	1	0	0	0	0	0	0	0	1	11246	813	29	1		1	OR7G1	19	9225957	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1043503	9225957	49903026	205	16838										
NOTCH3	4854	genome.wustl.edu	37	chr19	15291846	15291846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggcggcgctgcagacgccccCgtgtaggcagggccgcgaga	18	14	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:15291846C>T	ENST00000263388.2	-	18	2995	c.2920G>A	c.(2920-2922)Ggg>Agg	p.G974R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	974	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGACGCCCCCGTGTAGGCAG	0.697																																																	0													12	15	14					19																	15291846		2190	4287	6477	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2920G>A	19.37:g.15291846C>T	ENSP00000263388:p.Gly974Arg		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.G974R	ENST00000263388.2	37	c.2920	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844421	0.71488	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.99766	-6.69	5.36	3.19	0.36642	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32901	N	0.005516	D	0.99486	0.9817	M	0.89904	3.07	0.80722	D	1	D;P	0.60575	0.988;0.768	P;B	0.47573	0.55;0.286	D	0.98113	1.0421	10	0.87932	D	0	.	9.8902	0.41285	0.0:0.7823:0.14:0.0778	.	925;974	Q59FL3;Q9UM47	.;NOTC3_HUMAN	R	974;924	ENSP00000263388:G974R	ENSP00000263388:G974R	G	-	1	0	NOTCH3	15152846	1.000000	0.71417	0.982000	0.44146	0.216000	0.24613	5.682000	0.68182	0.621000	0.30232	0.491000	0.48974	GGG	NOTCH3	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.697	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435		15291846	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15291846	C	T	15291846	3	4	111	1	0	0	0	0	1	0	0	0	10574	652	23	2	4109	2	NOTCH3	19	15291846	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	6065889	15291846	43837137	206	16839										
CHERP	84167	genome.wustl.edu	37	chr19	16631642	16631642	+	3'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	catctgcgcttttacctgttCctcttctcctggcctttcct	5	16	3	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:16631642C>T	ENST00000221671.3	+	0	2908				CHERP_ENST00000198939.6_Silent_p.R743R|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Silent_p.R732R	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTTACCTGTTCCTCTTCTCCT	0.592																																																	0													85	96	92					19																	16631642		1998	4160	6158	SO:0001624	3_prime_UTR_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*778C>T	19.37:g.16631642C>T			Q8N6Y7	Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.R732	ENST00000221671.3	37	c.2196	CCDS12345.1	19																																																																																			CHERP	-	NULL		0.592	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1	C	NM_032207		16631642	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	silent	SNP	1.000	T	T	16631642	C	T	16631642	1	4	111	0	1	0	0	0	0	0	0	0	3341	854	30	1		1	CHERP	19	16631642	3'UTR	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1339796	16631642	42497341	207	16840										
RHPN2	85415	genome.wustl.edu	37	chr19	33490562	33490562	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccctctggcatgtggtcgtaGagctgggacaggcacttctc	13	12	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:33490562G>C	ENST00000254260.3	-	10	1190	c.1155C>G	c.(1153-1155)ctC>ctG	p.L385L	RHPN2_ENST00000400226.4_Silent_p.L234L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	385	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGTGGTCGTAGAGCTGGGACA	0.602																																																	0													78	63	68					19																	33490562		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1155C>G	19.37:g.33490562G>C			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.L385	ENST00000254260.3	37	c.1155	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.602	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	G	NM_033103		33490562	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	silent	SNP	1.000	C	C	33490562	G	C	33490562	2	2	111	1	0	0	0	0	0	0	0	1	13381	929	33	1		1	RHPN2	19	33490562	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	16858920	33490562	25638421	208	16841										
DMRTC2	63946	genome.wustl.edu	37	chr19	42351527	42351527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gtgacatgcctgctggctacCactgccccttagactctgcc	9	16	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:42351527C>T	ENST00000269945.3	+	2	82	c.31C>T	c.(31-33)Cac>Tac	p.H11Y	DMRTC2_ENST00000596827.1_Missense_Mutation_p.H11Y|LYPD4_ENST00000330743.3_5'Flank|LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	11					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGCTGGCTACCACTGCCCCTT	0.632																																																	0													91	92	92					19																	42351527		2203	4300	6503	SO:0001583	missense	63946			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.31C>T	19.37:g.42351527C>T	ENSP00000269945:p.His11Tyr		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.H11Y	ENST00000269945.3	37	c.31	CCDS33034.1	19	.	.	.	.	.	.	.	.	.	.	C	9.245	1.039290	0.19669	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	4.54	0.55810	.	0.614436	0.14556	N	0.312353	T	0.31420	0.0796	L	0.29908	0.895	0.29534	N	0.852567	P;P	0.39282	0.576;0.666	B;B	0.37650	0.188;0.255	T	0.08973	-1.0696	9	0.20046	T	0.44	-10.1997	13.5035	0.61471	0.0:1.0:0.0:0.0	.	11;11	B4DX56;Q8IXT2	.;DMRTD_HUMAN	Y	11	.	ENSP00000269945:H11Y	H	+	1	0	DMRTC2	47043367	0.075000	0.21258	0.971000	0.41717	0.403000	0.30841	0.391000	0.20784	2.472000	0.83506	0.561000	0.74099	CAC	DMRTC2	-	NULL		0.632	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	HGNC	protein_coding	OTTHUMT00000463045.1	C	NM_001040283		42351527	1	no_errors	ENST00000269945	ensembl	human	known	70_37	missense	SNP	0.975	T	T	42351527	C	T	42351527	3	4	111	1	0	0	0	0	1	0	0	0	4601	594	21	4	33	4	DMRTC2	19	42351527	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	8860965	42351527	16777456	209	16842										
GRIK5	2901	genome.wustl.edu	37	chr19	42510919	42510919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cacggtgaggaaggcggccaGgttggccgtgtaggaggaga	20	7	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:42510919G>C	ENST00000262895.3	-	15	1914	c.1915C>G	c.(1915-1917)Ctg>Gtg	p.L639V	GRIK5_ENST00000301218.4_Missense_Mutation_p.L639V|GRIK5_ENST00000593562.1_Missense_Mutation_p.L639V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	639					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AAGGCGGCCAGGTTGGCCGTG	0.642																																																	0													64	50	55					19																	42510919		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1915C>G	19.37:g.42510919G>C	ENSP00000262895:p.Leu639Val		Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L639V	ENST00000262895.3	37	c.1915	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.289739|4.289739	0.80914|0.80914	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.74526|.	-0.85;-0.85|.	5.36|5.36	4.33|4.33	0.51752|0.51752	Ionotropic glutamate receptor (2);|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|D	0.87830|0.87830	0.6276|0.6276	H|H	0.97918|0.97918	4.105|4.105	0.53005|0.53005	D|D	0.999964|0.999964	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.91424|0.91424	0.5161|0.5161	10|5	0.87932|.	D|.	0|.	.|.	13.0045|13.0045	0.58696|0.58696	0.0799:0.0:0.9201:0.0|0.0799:0.0:0.9201:0.0	.|.	639|.	Q16478|.	GRIK5_HUMAN|.	V|R	639|15	ENSP00000262895:L639V;ENSP00000301218:L639V|.	ENSP00000262895:L639V|.	L|P	-|-	1|2	2|0	GRIK5|GRIK5	47202759|47202759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.820000|4.820000	0.62671|0.62671	1.268000|1.268000	0.44264|0.44264	0.563000|0.563000	0.77884|0.77884	CTG|CCT	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt		0.642	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	G			42510919	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42510919	G	C	42510919	3	2	111	1	0	0	0	0	1	0	0	0	6797	991	35	4	1047	4	GRIK5	19	42510919	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	159392	42510919	16618064	210	16843										
ZNF613	79898	genome.wustl.edu	37	chr19	52448073	52448073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	atcagagagttcatacaggaGagaaaccacatggatgcagc	11	8	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:52448073G>A	ENST00000293471.6	+	6	1616	c.937G>A	c.(937-939)Gag>Aag	p.E313K	ZNF613_ENST00000391794.4_Missense_Mutation_p.E277K	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCATACAGGAGAGAAACCACA	0.443																																																	0													69	73	72					19																	52448073		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.937G>A	19.37:g.52448073G>A	ENSP00000293471:p.Glu313Lys		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E313K	ENST00000293471.6	37	c.937	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753941	0.69648	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.24350	1.86;1.86	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33895	N	0.004445	T	0.36936	0.0985	L	0.48877	1.53	0.27914	N	0.938499	P	0.51351	0.944	P	0.56563	0.801	T	0.14144	-1.0483	10	0.54805	T	0.06	.	14.0307	0.64613	0.0:0.0:1.0:0.0	.	313	Q6PF04	ZN613_HUMAN	K	313;277	ENSP00000293471:E313K;ENSP00000375671:E277K	ENSP00000293471:E313K	E	+	1	0	ZNF613	57139885	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	6.526000	0.73799	1.890000	0.54733	0.655000	0.94253	GAG	ZNF613	-	pfscan_Znf_C2H2		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52448073	1	no_errors	ENST00000293471	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52448073	G	A	52448073	3	1	111	1	0	0	0	0	1	0	0	0	18068	943	33	1	951	1	ZNF613	19	52448073	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	9937154	52448073	6680910	211	16844										
PTPRH	5794	genome.wustl.edu	37	chr19	55713638	55713638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gggacctcccaggtcagggcGatggagctgttggtctgagc	17	10	2	1	rs377115239		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:55713638G>A	ENST00000376350.3	-	6	961	c.939C>T	c.(937-939)atC>atT	p.I313I	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.I135I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	313	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTCAGGGCGATGGAGCTGT	0.577																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	105	86	92		405,939	3.9	0.9	19		92	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRH	NM_001161440.1,NM_002842.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	135/938,313/1116	55713638	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.939C>T	19.37:g.55713638G>A			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I313	ENST00000376350.3	37	c.939	CCDS33110.1	19																																																																																			PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	G			55713638	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	silent	SNP	0.905	A	A	55713638	G	A	55713638	2	1	111	1	0	0	0	0	0	0	0	1	12833	1048	37	1		1	PTPRH	19	55713638	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3265565	55713638	3415345	212	16845										
NLRP9	338321	genome.wustl.edu	37	chr19	56220299	56220299	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagaggagcacacccctgatCttgtattcctcgtcaatcca	7	14	2	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:56220299C>T	ENST00000332836.2	-	9	2982	c.2955G>A	c.(2953-2955)aaG>aaA	p.K985K	CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.6_ENST00000600582.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	985						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CACCCCTGATCTTGTATTCCT	0.493																																																	0													111	108	109					19																	56220299		2203	4300	6503	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2955G>A	19.37:g.56220299C>T			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K985	ENST00000332836.2	37	c.2955	CCDS12934.1	19																																																																																			NLRP9	-	NULL		0.493	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56220299	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	silent	SNP	0.002	T	T	56220299	C	T	56220299	2	4	111	1	0	0	0	0	0	0	0	1	10508	912	32	1		1	NLRP9	19	56220299	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	506661	56220299	2908684	213	16846										
ZSCAN22	342945	genome.wustl.edu	37	chr19	58850077	58850077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tcggcgctcgaggcacaccaGaagacccattctcggaagac	11	14	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr19:58850077G>C	ENST00000329665.4	+	3	1008	c.861G>C	c.(859-861)caG>caC	p.Q287H		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	287					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGGCACACCAGAAGACCCATT	0.592																																																	0													152	158	156					19																	58850077		2203	4300	6503	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.861G>C	19.37:g.58850077G>C	ENSP00000332433:p.Gln287His		Q15922|Q7Z3L8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q287H	ENST00000329665.4	37	c.861	CCDS12975.1	19	.	.	.	.	.	.	.	.	.	.	G	9.392	1.075749	0.20227	.	.	ENSG00000182318	ENST00000329665	T	0.07567	3.18	3.85	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	M	0.64080	1.96	0.26316	N	0.97776	P	0.35139	0.486	B	0.34346	0.18	T	0.19257	-1.0311	9	0.62326	D	0.03	.	4.9342	0.13932	0.1202:0.2188:0.661:0.0	.	287	P10073	ZSC22_HUMAN	H	287	ENSP00000332433:Q287H	ENSP00000332433:Q287H	Q	+	3	2	ZSCAN22	63541889	0.002000	0.14202	0.993000	0.49108	0.345000	0.29048	1.034000	0.30204	2.128000	0.65567	0.313000	0.20887	CAG	ZSCAN22	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	G	NM_181846		58850077	1	no_errors	ENST00000329665	ensembl	human	known	70_37	missense	SNP	0.643	C	C	58850077	G	C	58850077	3	2	111	1	0	0	0	0	1	0	0	0	18264	933	33	1	867	1	ZSCAN22	19	58850077	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2629778	58850077	278906	214	16847										
SIRPD	128646	genome.wustl.edu	37	chr20	1532404	1532404	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gctcttccttttatgaacttCacgcagtaataggtgccagc	8	11	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:1532404C>T	ENST00000381623.3	-	2	1543	c.354G>A	c.(352-354)gtG>gtA	p.V118V	SIRPD_ENST00000381621.1_Silent_p.V118V			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	118	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TTATGAACTTCACGCAGTAAT	0.493																																																	0													148	142	144					20																	1532404		2203	4300	6503	SO:0001819	synonymous_variant	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.354G>A	20.37:g.1532404C>T			B3KS88|Q5TFQ6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.V118	ENST00000381623.3	37	c.354	CCDS13018.1	20																																																																																			SIRPD	-	pfam_Ig_V-set,smart_Ig_sub		0.493	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPD	HGNC	protein_coding	OTTHUMT00000077552.1	C	NM_178460		1532404	-1	no_errors	ENST00000381621	ensembl	human	known	70_37	silent	SNP	0.996	T	T	1532404	C	T	1532404	2	4	111	1	0	0	0	0	0	0	0	1	14365	813	29	1		1	SIRPD	20	1532404	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		1532404	61493116	215	16848										
PROKR2	128674	genome.wustl.edu	37	chr20	5294986	5294986	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggtggattaaagttgggtgtGaaactggtgtttccattctg	14	4	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:5294986G>A	ENST00000217270.3	-	1	29	c.30C>T	c.(28-30)ttC>ttT	p.F10F	PROKR2_ENST00000546004.1_Silent_p.F10F	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	10					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGTTGGGTGTGAAACTGGTGT	0.507										HNSCC(71;0.22)																																							0													78	71	73					20																	5294986		2203	4300	6503	SO:0001819	synonymous_variant	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.30C>T	20.37:g.5294986G>A			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.F10	ENST00000217270.3	37	c.30	CCDS13089.1	20																																																																																			PROKR2	-	NULL		0.507	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	G	NM_144773		5294986	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	silent	SNP	0.000	A	A	5294986	G	A	5294986	2	1	111	1	0	0	0	0	0	0	0	1	12580	1281	45	1		1	PROKR2	20	5294986	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3762582	5294986	57730534	216	16849										
PLCB1	23236	genome.wustl.edu	37	chr20	8755253	8755253	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	acctcgctgctctggatgctGaaatgacccaaaagttaata	8	10	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:8755253G>A	ENST00000338037.6	+	27	3025	c.2998G>A	c.(2998-3000)Gaa>Aaa	p.E1000K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E1000K|PLCB1_ENST00000378641.3_Missense_Mutation_p.E1000K|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1000					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTGGATGCTGAAATGACCCA	0.443																																																	0													114	115	114					20																	8755253		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2998G>A	20.37:g.8755253G>A	ENSP00000338185:p.Glu1000Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E1000K	ENST00000338037.6	37	c.2998	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298194	0.81025	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.49139	0.79;0.79;0.79	5.63	5.63	0.86233	PLC-beta, C-terminal (1);	0.055984	0.64402	D	0.000001	T	0.57710	0.2072	M	0.61703	1.905	0.54753	D	0.999981	P;P	0.48764	0.837;0.915	P;P	0.49999	0.6;0.628	T	0.52373	-0.8584	10	0.30078	T	0.28	.	19.6788	0.95950	0.0:0.0:1.0:0.0	.	1000;1000	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	1000;1000;1000;920;920	ENSP00000367908:E1000K;ENSP00000338185:E1000K;ENSP00000367904:E1000K	ENSP00000338185:E1000K	E	+	1	0	PLCB1	8703253	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	9.476000	0.97823	2.653000	0.90120	0.650000	0.86243	GAA	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C		0.443	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8755253	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	0.998	A	A	8755253	G	A	8755253	3	1	111	1	0	0	0	0	1	0	0	0	12051	1291	45	1	3104	1	PLCB1	20	8755253	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	3460267	8755253	54270267	217	16850										
ITCH	83737	genome.wustl.edu	37	chr20	33030037	33030037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagcagagagtggaccagcaCgggcgagtttactatgtaga	15	7	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:33030037C>T	ENST00000262650.6	+	11	1153	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	ITCH_ENST00000535650.1_Silent_p.H188H|ITCH-AS1_ENST00000454205.1_RNA|ITCH_ENST00000374864.4_Silent_p.H298H			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	339	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGGACCAGCACGGGCGAGTTT	0.378																																																	0													101	102	102					20																	33030037		2203	4300	6503	SO:0001819	synonymous_variant	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1017C>T	20.37:g.33030037C>T			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.H339	ENST00000262650.6	37	c.1017	CCDS58768.1	20																																																																																			ITCH	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	C			33030037	1	no_errors	ENST00000262650	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33030037	C	T	33030037	2	4	111	1	0	0	0	0	0	0	0	1	7888	535	19	2		2	ITCH	20	33030037	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	24274784	33030037	29995483	218	16851										
DLGAP4	22839	genome.wustl.edu	37	chr20	35155325	35155325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caagcagcgccaggaggcccGcaagagactcctggcggcca	14	15	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:35155325G>A	ENST00000373907.2	+	12	3069	c.2870G>A	c.(2869-2871)cGc>cAc	p.R957H	DLGAP4_ENST00000373913.3_Missense_Mutation_p.R954H|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R418H|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R957H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R954H|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	957					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGGAGGCCCGCAAGAGACTC	0.647																																																	0													24	29	27					20																	35155325		2203	4298	6501	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2870G>A	20.37:g.35155325G>A	ENSP00000363014:p.Arg957His		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.R957H	ENST00000373907.2	37	c.2870		20	.	.	.	.	.	.	.	.	.	.	G	33	5.271000	0.95429	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.8	5.8	0.92144	.	0.053823	0.64402	D	0.000001	T	0.62417	0.2426	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.70033	-0.4983	10	0.87932	D	0	.	19.0445	0.93013	0.0:0.0:1.0:0.0	.	418;957;954	Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;DLGP4_HUMAN;.	H	954;954;957;957;418	ENSP00000363023:R954H;ENSP00000384954:R954H;ENSP00000363014:R957H;ENSP00000341633:R957H;ENSP00000345700:R418H	ENSP00000341633:R957H	R	+	2	0	DLGAP4	34588739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.792000	0.99085	2.746000	0.94184	0.563000	0.77884	CGC	DLGAP4	-	pfam_GKAP		0.647	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35155325	1	no_errors	ENST00000339266	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35155325	G	A	35155325	3	1	111	1	0	0	0	0	1	0	0	0	4572	1087	38	2	3031	2	DLGAP4	20	35155325	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2125288	35155325	27870195	219	16852										
ACOT8	10005	genome.wustl.edu	37	chr20	44485852	44485852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagatcctcgtccagcggctCgaggttgagcacggtcgtga	15	11	0	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:44485852C>G	ENST00000217455.4	-	1	193	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	ZSWIM3_ENST00000255152.2_5'Flank|ZSWIM3_ENST00000454862.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	35					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCCAGCGGCTCGAGGTTGAGC	0.677																																																	0													31	35	33					20																	44485852		2203	4300	6503	SO:0001583	missense	10005			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.103G>C	20.37:g.44485852C>G	ENSP00000217455:p.Glu35Gln		O15261|Q17RX4	Missense_Mutation	SNP	pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio	p.E35Q	ENST00000217455.4	37	c.103	CCDS13378.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.244984	0.95272	.	.	ENSG00000101473	ENST00000217455;ENST00000426915;ENST00000372531	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	N	0.20986	0.625	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.999	P;D;D	0.70935	0.613;0.971;0.931	T	0.68390	-0.5421	9	0.87932	D	0	.	17.5244	0.87795	0.0:1.0:0.0:0.0	.	35;35;35	E9PRD4;B4DLF4;O14734	.;.;ACOT8_HUMAN	Q	35;33;35	.	ENSP00000217455:E35Q	E	-	1	0	ACOT8	43919259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.727000	0.68523	2.813000	0.96785	0.561000	0.74099	GAG	ACOT8	-	tigrfam_Acyl_CoA_thio		0.677	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT8	HGNC	protein_coding	OTTHUMT00000080338.2	C	NM_183386		44485852	-1	no_errors	ENST00000217455	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44485852	C	G	44485852	3	3	111	1	0	0	0	0	1	0	0	0	156	893	31	1	880	1	ACOT8	20	44485852	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	9330527	44485852	18539668	220	16853										
C20orf177	63939	genome.wustl.edu	37	chr20	58519266	58519266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaattattaaagagaatgctGatgaggacagtgcaagtgat	11	3	0	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:58519266G>T	ENST00000358293.3	+	5	683	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	FAM217B_ENST00000360816.3_Missense_Mutation_p.D90Y|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	90																	AGAGAATGCTGATGAGGACAG	0.438																																																	0													67	65	66					20																	58519266		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.268G>T	20.37:g.58519266G>T	ENSP00000351040:p.Asp90Tyr		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.D90Y	ENST00000358293.3	37	c.268	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838006	0.91117	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.46451	0.87;0.87	5.56	5.56	0.83823	.	0.155177	0.38959	N	0.001515	T	0.64249	0.2581	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.66023	-0.6026	10	0.87932	D	0	-9.1393	19.5302	0.95226	0.0:0.0:1.0:0.0	.	90	Q9NTX9	CT177_HUMAN	Y	90	ENSP00000351040:D90Y;ENSP00000354056:D90Y	ENSP00000351040:D90Y	D	+	1	0	C20orf177	57952661	1.000000	0.71417	0.581000	0.28614	0.992000	0.81027	9.097000	0.94193	2.592000	0.87571	0.655000	0.94253	GAT	FAM217B	-	NULL		0.438	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58519266	1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58519266	G	T	58519266	3	4	111	1	0	0	0	0	1	0	0	0	2101	1290	45	3	270	3	C20orf177	20	58519266	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	14033414	58519266	4506254	221	16854										
OGFR	11054	genome.wustl.edu	37	chr20	61444515	61444515	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cccaaagaaggtacccctggGagcccatcggagaccccagg	12	15	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:61444515G>A	ENST00000290291.6	+	7	1573	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G	OGFR_ENST00000370461.1_Silent_p.G464G	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	516					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GTACCCCTGGGAGCCCATCGG	0.697																																																	0													15	20	18					20																	61444515		2170	4258	6428	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1548G>A	20.37:g.61444515G>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.G516	ENST00000290291.6	37	c.1548	CCDS13504.1	20																																																																																			OGFR	-	NULL		0.697	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1	G			61444515	1	no_errors	ENST00000290291	ensembl	human	known	70_37	silent	SNP	0.506	A	A	61444515	G	A	61444515	2	1	111	1	0	0	0	0	0	0	0	1	10867	1161	41	1		1	OGFR	20	61444515	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2925249	61444515	1581005	222	16855										
C20orf195	79025	genome.wustl.edu	37	chr20	62187653	62187653	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ccaagatgcctgtcgtgtttGaccgaaaggcgtcggcggct	14	11	0	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:62187653G>C	ENST00000370098.3	+	2	729	c.637G>C	c.(637-639)Gac>Cac	p.D213H	C20orf195_ENST00000370097.1_Missense_Mutation_p.D213H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	213	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)		p.D213>?(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGTCGTGTTTGACCGAAAGGC	0.622																																																	1	Complex(1)	large_intestine(1)											101	105	104					20																	62187653		2203	4300	6503	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.637G>C	20.37:g.62187653G>C	ENSP00000359116:p.Asp213His			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.D213H	ENST00000370098.3	37	c.637	CCDS13526.1	20	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198114	0.58126	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.68311	0.2987	L	0.29908	0.895	0.45250	D	0.998255	D	0.89917	1.0	D	0.97110	1.0	T	0.71663	-0.4525	9	0.87932	D	0	-28.1173	19.3082	0.94173	0.0:0.0:1.0:0.0	.	213	Q9BVV2	CT195_HUMAN	H	213	.	ENSP00000359115:D213H	D	+	1	0	C20orf195	61658097	1.000000	0.71417	0.992000	0.48379	0.343000	0.28985	5.313000	0.65798	2.573000	0.86826	0.655000	0.94253	GAC	C20orf195	-	superfamily_Fibronectin_type3		0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf195	HGNC	protein_coding	OTTHUMT00000080155.1	G	NM_024059		62187653	1	no_errors	ENST00000370097	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62187653	G	C	62187653	3	2	111	1	0	0	0	0	1	0	0	0	2105	1290	45	1	639	1	C20orf195	20	62187653	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	743138	62187653	837867	223	16856										
PRIC285	85441	genome.wustl.edu	37	chr20	62201861	62201861	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gctgttctccgctcacctcaGagtggacggcaaacgtccag	11	14	3	1	rs563895075		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr20:62201861G>C	ENST00000467148.1	-	3	635	c.566C>G	c.(565-567)tCt>tGt	p.S189C	HELZ2_ENST00000479540.1_5'UTR|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	189					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCACCTCAGAGTGGACGGC	0.617													G|||	1	0.000199681	0	0	5008	,	,		15723	0		0	False		,,,				2504	0.001																0													73	64	67					20																	62201861		2201	4300	6501	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.566C>G	20.37:g.62201861G>C	ENSP00000417401:p.Ser189Cys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S189C	ENST00000467148.1	37	c.566	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055860	0.55325	.	.	ENSG00000130589	ENST00000467148	T	0.02606	4.23	4.28	3.33	0.38152	.	0.298781	0.33005	N	0.005398	T	0.09468	0.0233	L	0.49126	1.545	0.09310	N	0.999996	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.956	T	0.03394	-1.1041	10	0.59425	D	0.04	-1.1655	9.9285	0.41507	0.0974:0.0:0.9026:0.0	.	189;189	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	C	189	ENSP00000417401:S189C	ENSP00000417401:S189C	S	-	2	0	RP4-697K14.7	61672305	1.000000	0.71417	0.127000	0.21898	0.056000	0.15407	4.642000	0.61383	0.818000	0.34468	0.558000	0.71614	TCT	HELZ2	-	NULL		0.617	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62201861	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.260	C	C	62201861	G	C	62201861	3	2	111	1	0	0	0	0	1	0	0	0	12512	942	33	1	7474	1	PRIC285	20	62201861	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	14208	62201861	823659	224	16857										
AIRE	326	genome.wustl.edu	37	chr21	45711044	45711044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tctgctgtgacggctgccctCgggccttccacctggcctgc	12	17	1	1	rs139874934		TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr21:45711044C>T	ENST00000291582.5	+	8	1073	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	AIRE_ENST00000329347.4_Missense_Mutation_p.R109W|AIRE_ENST00000355347.4_Missense_Mutation_p.R109W	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	316					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CGGCTGCCCTCGGGCCTTCCA	0.687									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	55	44	48		946,355	2.6	1	21	dbSNP_134	48	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	AIRE	NM_000383.2,NM_000658.2	101,101	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	316/546,119/349	45711044	2,13002	2203	4299	6502	SO:0001583	missense	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.946C>T	21.37:g.45711044C>T	ENSP00000291582:p.Arg316Trp		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.R316W	ENST00000291582.5	37	c.946	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056339	0.76074	0.0	2.33E-4	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D;D	0.94966	-3.57;-3.57;-3.57	3.62	2.63	0.31362	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38111	N	0.001814	D	0.97275	0.9109	M	0.94063	3.49	0.45415	D	0.998392	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96600	0.9444	10	0.87932	D	0	-33.7397	7.6851	0.28536	0.2511:0.7489:0.0:0.0	.	119;316	B2RP50;O43918	.;AIRE_HUMAN	W	316;119;119;109;109	ENSP00000291582:R316W;ENSP00000347505:R109W;ENSP00000331055:R109W	ENSP00000291582:R316W	R	+	1	2	AIRE	44535472	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	1.831000	0.39141	1.757000	0.51966	0.462000	0.41574	CGG	AIRE	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.687	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	C			45711044	1	no_errors	ENST00000291582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45711044	C	T	45711044	3	4	111	1	0	0	0	0	1	0	0	0	437	875	31	1	1264	1	AIRE	21	45711044	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		45711044	2418851	225	16858										
PCNT	5116	genome.wustl.edu	37	chr21	47851644	47851644	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgagaagagccgcaccctgGagctgtcagaggccttgcgg	15	12	1	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr21:47851644G>T	ENST00000359568.5	+	38	8373	c.8266G>T	c.(8266-8268)Gag>Tag	p.E2756*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2756					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCGCACCCTGGAGCTGTCAGA	0.657																																																	0													22	22	22					21																	47851644		2203	4300	6503	SO:0001587	stop_gained	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8266G>T	21.37:g.47851644G>T	ENSP00000352572:p.Glu2756*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.E2756*	ENST00000359568.5	37	c.8266	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	49	15.230978	0.99827	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.32	5.32	0.75619	.	0.000000	0.34411	N	0.003981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	11.7977	0.52110	0.0801:0.0:0.9199:0.0	.	.	.	.	X	2756	.	ENSP00000352572:E2756X	E	+	1	0	PCNT	46676072	0.980000	0.34600	0.942000	0.38095	0.418000	0.31294	1.893000	0.39758	2.664000	0.90586	0.655000	0.94253	GAG	PCNT	-	NULL		0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47851644	1	no_errors	ENST00000359568	ensembl	human	known	70_37	nonsense	SNP	0.994	T	T	47851644	G	T	47851644	4	4	111	1	0	0	0	0	0	1	0	0	11614	1175	41	3	8416	3	PCNT	21	47851644	Nonsense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2140600	47851644	278251	226	16859										
PRMT2	3275	genome.wustl.edu	37	chr21	48063477	48063477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctgctgagtgcagtgaggccGgtctcctgcaggagggagta	17	9	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr21:48063477G>A	ENST00000397637.1	+	3	1024	c.70G>A	c.(70-72)Ggt>Agt	p.G24S	PRMT2_ENST00000397628.1_Missense_Mutation_p.G24S|PRMT2_ENST00000355680.3_Missense_Mutation_p.G24S|PRMT2_ENST00000458387.2_Missense_Mutation_p.G24S|PRMT2_ENST00000440086.1_Missense_Mutation_p.G24S|PRMT2_ENST00000334494.4_Missense_Mutation_p.G24S|PRMT2_ENST00000451211.2_Missense_Mutation_p.G24S|PRMT2_ENST00000397638.2_Missense_Mutation_p.G24S|PRMT2_ENST00000291705.6_Missense_Mutation_p.G24S			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	24	Interaction with ESR1.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CAGTGAGGCCGGTCTCCTGCA	0.532																																																	0													80	79	79					21																	48063477		2203	4300	6503	SO:0001583	missense	3275			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.70G>A	21.37:g.48063477G>A	ENSP00000380759:p.Gly24Ser		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G24S	ENST00000397637.1	37	c.70	CCDS13737.1	21	.	.	.	.	.	.	.	.	.	.	G	5.351	0.250011	0.10130	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000458387;ENST00000451211;ENST00000291705;ENST00000397637;ENST00000334494;ENST00000397628;ENST00000440086	T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	3.84	-0.216	0.13153	Src homology-3 domain (1);	5.165910	0.00424	N	0.000066	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B;P;B;B	0.40970	0.002;0.113;0.734;0.226;0.028	B;B;B;B;B	0.19666	0.0;0.007;0.025;0.026;0.004	T	0.16512	-1.0400	10	0.32370	T	0.25	-9.2604	5.4348	0.16476	0.1864:0.4174:0.3963:0.0	.	24;24;24;24;24	B7U632;B7U630;B7U631;Q498Y5;P55345	.;.;.;.;ANM2_HUMAN	S	24	ENSP00000347906:G24S;ENSP00000380760:G24S;ENSP00000407463:G24S;ENSP00000411984:G24S;ENSP00000291705:G24S;ENSP00000380759:G24S;ENSP00000335490:G24S;ENSP00000380752:G24S;ENSP00000397266:G24S	ENSP00000291705:G24S	G	+	1	0	PRMT2	46887905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.454000	0.21827	-0.061000	0.13110	0.591000	0.81541	GGT	PRMT2	-	superfamily_SH3_domain		0.532	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	HGNC	protein_coding	OTTHUMT00000207401.1	G	NM_001535		48063477	1	no_errors	ENST00000355680	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48063477	G	A	48063477	3	1	111	1	0	0	0	0	1	0	0	0	12564	1116	39	2	76	2	PRMT2	21	48063477	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	211833	48063477	66418	227	16860										
GNB1L	54584	genome.wustl.edu	37	chr22	19799874	19799874	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cccccggccaggatgctgctCcggcagaagcccacactctc	10	19	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:19799874C>G	ENST00000329517.6	-	5	587	c.351G>C	c.(349-351)cgG>cgC	p.R117R	GNB1L_ENST00000405009.1_Silent_p.R117R|GNB1L_ENST00000403325.1_Silent_p.R117R|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	117					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GGATGCTGCTCCGGCAGAAGC	0.697																																																	0													37	33	35					22																	19799874		2203	4300	6503	SO:0001819	synonymous_variant	54584			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.351G>C	22.37:g.19799874C>G			Q9H2S2|Q9H4M4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R117	ENST00000329517.6	37	c.351	CCDS13768.1	22																																																																																			GNB1L	-	superfamily_WD40_repeat_dom		0.697	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	C			19799874	-1	no_errors	ENST00000329517	ensembl	human	known	70_37	silent	SNP	0.917	G	G	19799874	C	G	19799874	2	3	111	1	0	0	0	0	0	0	0	1	6535	842	30	1		1	GNB1L	22	19799874	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09		19799874	31504692	228	16861										
ZNF280A	129025	genome.wustl.edu	37	chr22	22868784	22868784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctggcacacgtagggcatttCgccaggcttatgatggtcct	12	11	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:22868784C>T	ENST00000302097.3	-	2	1423	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	391					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.E391K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.453																																																	1	Substitution - Missense(1)	endometrium(1)											114	94	101					22																	22868784		2203	4297	6500	SO:0001583	missense	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1171G>A	22.37:g.22868784C>T	ENSP00000302855:p.Glu391Lys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E391K	ENST00000302097.3	37	c.1171	CCDS13800.1	22	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113354	0.77210	.	.	ENSG00000169548	ENST00000302097	T	0.34859	1.34	3.9	0.441	0.16577	.	.	.	.	.	T	0.50154	0.1599	M	0.92317	3.295	0.33224	D	0.555079	D	0.60160	0.987	P	0.50136	0.632	T	0.61192	-0.7112	9	0.62326	D	0.03	-5.291	4.5073	0.11894	0.2116:0.5871:0.0:0.2013	.	391	P59817	Z280A_HUMAN	K	391	ENSP00000302855:E391K	ENSP00000302855:E391K	E	-	1	0	ZNF280A	21198784	0.994000	0.37717	0.256000	0.24389	0.895000	0.52256	3.146000	0.50631	0.150000	0.19136	0.655000	0.94253	GAA	ZNF280A	-	NULL		0.453	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	HGNC	protein_coding	OTTHUMT00000075433.3	C	NM_080740		22868784	-1	no_errors	ENST00000302097	ensembl	human	known	70_37	missense	SNP	0.936	T	T	22868784	C	T	22868784	3	4	111	1	0	0	0	0	1	0	0	0	17844	893	31	1	461	1	ZNF280A	22	22868784	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	3068910	22868784	28435782	229	16862										
TMEM211	255349	genome.wustl.edu	37	chr22	25331426	25331426	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aggctggccaggactgcattGaggatagcagtcatgtaacc	13	9	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:25331426G>C	ENST00000423535.1	-	3	476	c.477C>G	c.(475-477)ctC>ctG	p.L159L	TMEM211_ENST00000407886.1_Silent_p.L88L|TMEM211_ENST00000382744.1_Silent_p.L88L			Q6ICI0	TM211_HUMAN	transmembrane protein 211	159						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGACTGCATTGAGGATAGCAG	0.567																																																	0													98	84	89					22																	25331426		2203	4300	6503	SO:0001819	synonymous_variant	255349				CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.477C>G	22.37:g.25331426G>C				Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.L159	ENST00000423535.1	37	c.477		22																																																																																			TMEM211	-	pfam_Lipome_HGMIC_fus_partner-like		0.567	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	TMEM211	HGNC	protein_coding		G	NM_001001663		25331426	-1	no_errors	ENST00000423535	ensembl	human	known	70_37	silent	SNP	0.528	C	C	25331426	G	C	25331426	2	2	111	1	0	0	0	0	0	0	0	1	16165	1277	45	1		1	TMEM211	22	25331426	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2462642	25331426	25973140	230	16863										
NIPSNAP1	8508	genome.wustl.edu	37	chr22	29956727	29956727	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaggtcctcaacctaccccaGagatggtgcaccacgtagag	10	13	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:29956727G>C	ENST00000216121.7	-	8	956	c.702C>G	c.(700-702)ctC>ctG	p.L234L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	234					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						ACCTACCCCAGAGATGGTGCA	0.532																																																	1	Unknown(1)	lung(1)											137	136	136					22																	29956727		2203	4300	6503	SO:0001819	synonymous_variant	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.702C>G	22.37:g.29956727G>C			B2RAY3|O43800	Silent	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.L234	ENST00000216121.7	37	c.702	CCDS13860.1	22																																																																																			NIPSNAP1	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.532	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	HGNC	protein_coding	OTTHUMT00000322117.1	G			29956727	-1	no_errors	ENST00000216121	ensembl	human	known	70_37	silent	SNP	0.994	C	C	29956727	G	C	29956727	2	2	111	1	0	0	0	0	0	0	0	1	10453	929	33	1		1	NIPSNAP1	22	29956727	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4625301	29956727	21347839	231	16864										
NIPSNAP1	8508	genome.wustl.edu	37	chr22	29956745	29956745	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagagatggtgcaccacgtaGagctctcctatctgtgagaa	11	10	2	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:29956745G>C	ENST00000216121.7	-	8	938	c.684C>G	c.(682-684)ctC>ctG	p.L228L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	228					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GCACCACGTAGAGCTCTCCTA	0.537																																																	1	Unknown(1)	lung(1)											148	144	145					22																	29956745		2203	4300	6503	SO:0001819	synonymous_variant	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.684C>G	22.37:g.29956745G>C			B2RAY3|O43800	Silent	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.L228	ENST00000216121.7	37	c.684	CCDS13860.1	22																																																																																			NIPSNAP1	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.537	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	HGNC	protein_coding	OTTHUMT00000322117.1	G			29956745	-1	no_errors	ENST00000216121	ensembl	human	known	70_37	silent	SNP	0.996	C	C	29956745	G	C	29956745	2	2	111	1	0	0	0	0	0	0	0	1	10453	929	33	1		1	NIPSNAP1	22	29956745	Silent	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	18	29956745	21347821	232	16865										
C22orf30	253143	genome.wustl.edu	37	chr22	32108390	32108390	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caaggacagagcagtctgctCtggtctggactatggcagtg	14	9	3	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:32108390C>G	ENST00000327423.6	-	4	5624	c.5435G>C	c.(5434-5436)aGa>aCa	p.R1812T	PRR14L_ENST00000434485.1_Missense_Mutation_p.R1812T|PRR14L_ENST00000397493.2_Missense_Mutation_p.R1812T	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1812										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCAGTCTGCTCTGGTCTGGAC	0.547																																																	0													106	113	111					22																	32108390		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5435G>C	22.37:g.32108390C>G	ENSP00000331845:p.Arg1812Thr		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.R1812T	ENST00000327423.6	37	c.5435	CCDS13900.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.675854|3.675854	0.67928|0.67928	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000330495|ENST00000397493;ENST00000327423;ENST00000434485	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.214229	.|0.42682	.|D	.|0.000662	T|T	0.55178|0.55178	0.1904|0.1904	L|L	0.45581|0.45581	1.43|1.43	0.33643|0.33643	D|D	0.607519|0.607519	.|D;D;D	.|0.56521	.|0.976;0.976;0.976	.|P;P;P	.|0.54060	.|0.741;0.741;0.741	T|T	0.64605|0.64605	-0.6368|-0.6368	5|10	.|0.45353	.|T	.|0.12	-10.7532|-10.7532	16.1806|16.1806	0.81895|0.81895	0.0:0.867:0.133:0.0|0.0:0.867:0.133:0.0	.|.	.|1812;1812;1812	.|Q5THK1-2;Q5THK1;Q5THK1-4	.|.;PR14L_HUMAN;.	H|T	114|1812	.|ENSP00000380630:R1812T;ENSP00000331845:R1812T;ENSP00000388314:R1812T	.|ENSP00000331845:R1812T	Q|R	-|-	3|2	2|0	PRR14L|PRR14L	30438390|30438390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.857000|1.857000	0.39399|0.39399	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	CAG|AGA	PRR14L	-	NULL		0.547	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	C	NM_173566		32108390	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32108390	C	G	32108390	3	3	111	1	0	0	0	0	1	0	0	0	2147	913	32	1	1044	1	C22orf30	22	32108390	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2151645	32108390	19196176	233	16866										
MGAT3	4248	genome.wustl.edu	37	chr22	39884875	39884875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctaccaggagcccaggagcaCggcggcgggcgggtggcgcc	19	14	0	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:39884875C>T	ENST00000341184.6	+	2	1738	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	508					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCAGGAGCACGGCGGCGGGC	0.657																																																	0													21	24	23					22																	39884875		2194	4290	6484	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1523C>T	22.37:g.39884875C>T	ENSP00000345270:p.Thr508Met		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.T508M	ENST00000341184.6	37	c.1523	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428615	0.25726	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.83	5.83	0.93111	.	0.316889	0.26149	N	0.026041	T	0.24314	0.0589	N	0.19112	0.55	0.09310	N	0.999999	P	0.49862	0.929	B	0.36885	0.235	T	0.29305	-1.0016	9	0.87932	D	0	.	15.6185	0.76787	0.0:1.0:0.0:0.0	.	508	Q09327	MGAT3_HUMAN	M	508	.	ENSP00000345270:T508M	T	+	2	0	MGAT3	38214821	0.899000	0.30636	0.028000	0.17463	0.361000	0.29550	2.361000	0.44160	2.775000	0.95449	0.650000	0.86243	ACG	MGAT3	-	NULL		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	C	NM_002409		39884875	1	no_errors	ENST00000341184	ensembl	human	known	70_37	missense	SNP	0.062	T	T	39884875	C	T	39884875	3	4	111	1	0	0	0	0	1	0	0	0	9567	536	19	2	1525	2	MGAT3	22	39884875	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	7776485	39884875	11419691	234	16867										
EP300	2033	genome.wustl.edu	37	chr22	41545822	41545822	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctataatgcctccagggtctCaggggagccacattcactgt	10	12	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:41545822C>T	ENST00000263253.7	+	14	3656	c.2437C>T	c.(2437-2439)Cag>Tag	p.Q813*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	813					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCAGGGTCTCAGGGGAGCCA	0.493			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													67	54	58					22																	41545822		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2437C>T	22.37:g.41545822C>T	ENSP00000263253:p.Gln813*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q813*	ENST00000263253.7	37	c.2437	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	50	16.278370	0.99859	.	.	ENSG00000100393	ENST00000263253	.	.	.	6.08	6.08	0.98989	.	0.000000	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-8.2535	16.0764	0.80971	0.0:0.8669:0.1331:0.0	.	.	.	.	X	813	.	ENSP00000263253:Q813X	Q	+	1	0	EP300	39875768	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.706000	0.54830	2.894000	0.99253	0.591000	0.81541	CAG	EP300	-	NULL		0.493	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41545822	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41545822	C	T	41545822	4	4	111	1	0	0	0	0	0	1	0	0	5160	827	29	1	2491	1	EP300	22	41545822	Nonsense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	1660947	41545822	9758744	235	16868										
SAMM50	25813	genome.wustl.edu	37	chr22	44372002	44372002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gcgagaactgggctgcctctCaaggacggcgtcatttgctg	14	11	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:44372002C>T	ENST00000350028.4	+	8	873	c.716C>T	c.(715-717)tCa>tTa	p.S239L	SAMM50_ENST00000396202.3_Missense_Mutation_p.S29L	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	239					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGCTGCCTCTCAAGGACGGCG	0.468																																																	0													107	96	100					22																	44372002		2203	4300	6503	SO:0001583	missense	25813			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.716C>T	22.37:g.44372002C>T	ENSP00000345445:p.Ser239Leu		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.S239L	ENST00000350028.4	37	c.716	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692809	0.68271	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.40225	1.04;1.04	5.29	4.25	0.50352	Bacterial surface antigen (D15) (1);	0.229124	0.44688	D	0.000437	T	0.38904	0.1058	L	0.37561	1.115	0.39044	D	0.960187	B;B	0.20368	0.016;0.044	B;B	0.35813	0.062;0.211	T	0.29971	-0.9994	10	0.30854	T	0.27	-11.6848	12.8758	0.57989	0.1629:0.8371:0.0:0.0	.	44;239	B3KUE6;Q9Y512	.;SAM50_HUMAN	L	239;29	ENSP00000345445:S239L;ENSP00000379505:S29L	ENSP00000345445:S239L	S	+	2	0	SAMM50	42703335	0.999000	0.42202	0.010000	0.14722	0.909000	0.53808	5.434000	0.66526	1.329000	0.45376	0.555000	0.69702	TCA	SAMM50	-	pfam_Bac_surfAg_D15		0.468	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	C	NM_015380		44372002	1	no_errors	ENST00000350028	ensembl	human	known	70_37	missense	SNP	0.771	T	T	44372002	C	T	44372002	3	4	111	1	0	0	0	0	1	0	0	0	13859	838	29	1	746	1	SAMM50	22	44372002	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	2826180	44372002	6932564	236	16869										
CELSR1	9620	genome.wustl.edu	37	chr22	46931242	46931242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tgccgccccccagaaaggtgGaggccgtgtccaccaggcga	14	15	0	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:46931242G>T	ENST00000262738.3	-	1	1825	c.1826C>A	c.(1825-1827)tCc>tAc	p.S609Y	CELSR1_ENST00000395964.1_Missense_Mutation_p.S609Y|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	609	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGAAAGGTGGAGGCCGTGTC	0.642																																																	0													25	27	26					22																	46931242		2202	4299	6501	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1826C>A	22.37:g.46931242G>T	ENSP00000262738:p.Ser609Tyr		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S609Y	ENST00000262738.3	37	c.1826	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986007	0.18889	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.54479	0.57;0.57	4.92	3.9	0.45041	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51568	0.1682	L	0.49126	1.545	0.09310	N	1	P	0.47034	0.889	P	0.46543	0.52	T	0.41998	-0.9477	9	0.56958	D	0.05	.	9.3266	0.37997	0.0:0.1777:0.6739:0.1485	.	609	Q9NYQ6	CELR1_HUMAN	Y	609	ENSP00000262738:S609Y;ENSP00000379293:S609Y	ENSP00000262738:S609Y	S	-	2	0	CELSR1	45309906	0.500000	0.26091	0.002000	0.10522	0.144000	0.21451	3.879000	0.56138	1.055000	0.40461	0.462000	0.41574	TCC	CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	G	NM_014246		46931242	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	0.112	T	T	46931242	G	T	46931242	3	4	111	1	0	0	0	0	1	0	0	0	3226	1174	41	3	7358	3	CELSR1	22	46931242	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	2559240	46931242	4373324	237	16870										
CHKB	1120	genome.wustl.edu	37	chr22	51019907	51019907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gaaaggcatctccatgccatGaaattgcgccatcttcgtgg	10	11	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chr22:51019907G>C	ENST00000406938.2	-	4	740	c.523C>G	c.(523-525)Cat>Gat	p.H175D	CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'UTR|CPT1B_ENST00000360719.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	175					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TCCATGCCATGAAATTGCGCC	0.567																																																	0													64	54	57					22																	51019907		2203	4300	6503	SO:0001583	missense	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.523C>G	22.37:g.51019907G>C	ENSP00000384400:p.His175Asp		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.H175D	ENST00000406938.2	37	c.523	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902243	0.92035	.	.	ENSG00000100288	ENST00000406938	T	0.81247	-1.47	4.94	4.94	0.65067	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95082	0.8214	10	0.87932	D	0	-12.3199	15.6847	0.77400	0.0:0.0:1.0:0.0	.	175	Q9Y259	CHKB_HUMAN	D	175	ENSP00000384400:H175D	ENSP00000384400:H175D	H	-	1	0	CHKB	49366773	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.293000	0.96082	2.552000	0.86080	0.561000	0.74099	CAT	CHKB	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.567	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	G	NM_005198		51019907	-1	no_errors	ENST00000406938	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51019907	G	C	51019907	3	2	111	1	0	0	0	0	1	0	0	0	3353	1290	45	1	696	1	CHKB	22	51019907	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	4088665	51019907	284659	238	16871										
PTCHD1	139411	genome.wustl.edu	37	chrX	23411550	23411550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	tctctaaaaaatacaatgatGaggtcgatgtagtggcctcc	9	8	1	2			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:23411550G>A	ENST00000379361.4	+	3	2775	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	639					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATACAATGATGAGGTCGATGT	0.393																																																	0													61	61	61					X																	23411550		2202	4300	6502	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1915G>A	X.37:g.23411550G>A	ENSP00000368666:p.Glu639Lys		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E639K	ENST00000379361.4	37	c.1915	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116226	0.56505	.	.	ENSG00000165186	ENST00000379361	D	0.85411	-1.98	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	L	0.29908	0.895	0.58432	D	0.999998	D	0.69078	0.997	D	0.77004	0.989	D	0.84012	0.0349	10	0.15499	T	0.54	.	18.3322	0.90274	0.0:0.0:1.0:0.0	.	639	Q96NR3	PTHD1_HUMAN	K	639	ENSP00000368666:E639K	ENSP00000368666:E639K	E	+	1	0	PTCHD1	23321471	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.471000	0.97696	2.269000	0.75478	0.600000	0.82982	GAG	PTCHD1	-	pfam_Patched		0.393	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	G	NM_173495		23411550	1	no_errors	ENST00000379361	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23411550	G	A	23411550	3	1	111	1	0	0	0	0	1	0	0	0	12759	1291	45	1	1925	1	PTCHD1	23	23411550	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09		23411550	131859010	239	16872										
SLC38A5	92745	genome.wustl.edu	37	chrX	48324406	48324406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ggtgttgctcactcacccctCggggtccatgtacaggaagg	13	12	2	0			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:48324406C>T	ENST00000376876.3	-	7	1330	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SLC38A5_ENST00000317669.5_Missense_Mutation_p.E163K|SLC38A5_ENST00000376875.1_Missense_Mutation_p.E112K			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	163					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACTCACCCCTCGGGGTCCATG	0.592											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76	53	61					X																	48324406		2202	4299	6501	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.487G>A	X.37:g.48324406C>T	ENSP00000366073:p.Glu163Lys	953	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E163K	ENST00000376876.3	37	c.487	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	c	9.658	1.143454	0.21205	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711;ENST00000429543	T;T;T;T;T;T;T;T	0.49432	3.09;3.09;3.09;1.5;1.51;1.48;1.48;0.78	4.55	-0.883	0.10600	.	1.236970	0.05672	N	0.588793	T	0.22742	0.0549	N	0.11427	0.14	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.14727	-1.0462	10	0.13108	T	0.6	.	2.6844	0.05103	0.3538:0.3262:0.0:0.3199	.	163	Q8WUX1	S38A5_HUMAN	K	163;112;163;163;163;163;163;163	ENSP00000366073:E163K;ENSP00000366071:E112K;ENSP00000313740:E163K;ENSP00000402988:E163K;ENSP00000407258:E163K;ENSP00000403976:E163K;ENSP00000389644:E163K;ENSP00000416948:E163K	ENSP00000313740:E163K	E	-	1	0	SLC38A5	48209350	0.000000	0.05858	0.005000	0.12908	0.276000	0.26787	-0.067000	0.11579	0.007000	0.14760	0.436000	0.28706	GAG	SLC38A5	-	pfam_AA_transpt_TM		0.592	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	C	NM_033518		48324406	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	missense	SNP	0.000	T	T	48324406	C	T	48324406	3	4	111	1	0	0	0	0	1	0	0	0	14637	893	31	1	971	1	SLC38A5	23	48324406	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	24912856	48324406	106946154	240	16873										
HEPH	9843	genome.wustl.edu	37	chrX	65486299	65486299	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagcagtgccccccagagacAttgaagaaggcaatgtgaag	12	10	0	4			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:65486299A>T	ENST00000343002.2	+	20	3926	c.3262A>T	c.(3262-3264)Att>Ttt	p.I1088F	HEPH_ENST00000374727.3_Missense_Mutation_p.I1091F|HEPH_ENST00000336279.5_Missense_Mutation_p.I821F|HEPH_ENST00000419594.1_Missense_Mutation_p.I899F|HEPH_ENST00000441993.2_Missense_Mutation_p.I1090F|HEPH_ENST00000519389.1_Missense_Mutation_p.I1142F			Q9BQS7	HEPH_HUMAN	hephaestin	1088					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCCAGAGACATTGAAGAAGG	0.448																																																	0													181	131	148					X																	65486299		2203	4300	6503	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3262A>T	X.37:g.65486299A>T	ENSP00000343939:p.Ile1088Phe		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.I1142F	ENST00000343002.2	37	c.3424		X	.	.	.	.	.	.	.	.	.	.	A	1.201	-0.632520	0.03584	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99239	-5.59;-5.57;-5.58;-5.61;-5.58;-5.57	5.01	1.02	0.19986	.	0.467692	0.17768	N	0.162680	D	0.96049	0.8713	L	0.27053	0.805	0.09310	N	1	B;B;B	0.20164	0.0;0.042;0.0	B;B;B	0.15484	0.0;0.013;0.0	D	0.92275	0.5828	10	0.54805	T	0.06	.	2.7747	0.05344	0.485:0.0:0.1659:0.3491	.	1142;899;1088	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	F	1142;1091;821;1090;899;1088	ENSP00000430620:I1142F;ENSP00000363859:I1091F;ENSP00000337418:I821F;ENSP00000411687:I1090F;ENSP00000413211:I899F;ENSP00000343939:I1088F	ENSP00000337418:I821F	I	+	1	0	HEPH	65403024	0.011000	0.17503	0.025000	0.17156	0.014000	0.08584	0.222000	0.17699	0.195000	0.20347	0.486000	0.48141	ATT	HEPH	-	NULL		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	A	NM_138737		65486299	1	no_errors	ENST00000519389	ensembl	human	known	70_37	missense	SNP	0.005	T	T	65486299	A	T	65486299	3	4	111	1	0	0	0	0	1	0	0	0	7074	217	8	5	3506	5	HEPH	23	65486299	Missense_Mutation	SNP	A	TCGA-EK-A2RK-01A-11D-A18J-09	17161893	65486299	89784261	241	16874										
TEX11	56159	genome.wustl.edu	37	chrX	70073170	70073170	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	aaccattcttttcctattctCatattcatctagaagagaga	4	9	4	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:70073170C>T	ENST00000395889.2	-	7	533	c.378G>A	c.(376-378)atG>atA	p.M126I	TEX11_ENST00000344304.3_Missense_Mutation_p.M126I|TEX11_ENST00000374333.2_Missense_Mutation_p.M111I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	126					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTCCTATTCTCATATTCATCT	0.358																																																	0													49	44	46					X																	70073170		2202	4300	6502	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.378G>A	X.37:g.70073170C>T	ENSP00000379226:p.Met126Ile		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.M126I	ENST00000395889.2	37	c.378	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	c	0.055	-1.239470	0.01493	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.29917	1.55;1.56;1.56	4.67	0.686	0.18015	Tetratricopeptide-like helical (1);	0.443699	0.25789	N	0.028291	T	0.15522	0.0374	N	0.19112	0.55	0.28148	N	0.92951	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23261	-1.0193	9	.	.	.	-1.0865	7.2224	0.25994	0.1254:0.6469:0.0:0.2277	.	111;126	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	111;126;126	ENSP00000363453:M111I;ENSP00000379226:M126I;ENSP00000340995:M126I	.	M	-	3	0	TEX11	69989895	1.000000	0.71417	0.462000	0.27118	0.007000	0.05969	0.992000	0.29667	-0.349000	0.08274	-0.905000	0.02835	ATG	TEX11	-	NULL		0.358	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	C			70073170	-1	no_errors	ENST00000344304	ensembl	human	known	70_37	missense	SNP	0.989	T	T	70073170	C	T	70073170	3	4	111	1	0	0	0	0	1	0	0	0	15804	826	29	1	2544	1	TEX11	23	70073170	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	4586871	70073170	85197390	242	16875										
KLHL4	56062	genome.wustl.edu	37	chrX	86772953	86772953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	cagatcctaaggctacgctgGaggtggtttagtcatccttt	11	9	1	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:86772953G>C	ENST00000373119.4	+	1	202	c.57G>C	c.(55-57)tgG>tgC	p.W19C	KLHL4_ENST00000373114.4_Missense_Mutation_p.W19C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	19						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGCTACGCTGGAGGTGGTTTA	0.483																																																	0													115	105	109					X																	86772953		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.57G>C	X.37:g.86772953G>C	ENSP00000362211:p.Trp19Cys		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.W19C	ENST00000373119.4	37	c.57	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476166	0.63737	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.93712	-3.27;-3.26	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	D	0.96386	0.8821	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96946	0.9691	10	0.87932	D	0	.	16.3818	0.83467	0.0:0.0:1.0:0.0	.	19;19	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	C	19	ENSP00000362211:W19C;ENSP00000362206:W19C	ENSP00000362206:W19C	W	+	3	0	KLHL4	86659609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.641000	0.91032	2.327000	0.79052	0.513000	0.50165	TGG	KLHL4	-	NULL		0.483	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	G			86772953	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86772953	G	C	86772953	3	2	111	1	0	0	0	0	1	0	0	0	8411	1183	41	1	59	1	KLHL4	23	86772953	Missense_Mutation	SNP	G	TCGA-EK-A2RK-01A-11D-A18J-09	16699783	86772953	68497607	243	16876										
TCEAL1	9338	genome.wustl.edu	37	chrX	102884879	102884879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	caaagaaaatgaagaagagcCgcagagcgcgcccaagaccg	12	11	0	6			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:102884879C>T	ENST00000372625.3	+	3	199	c.35C>T	c.(34-36)cCg>cTg	p.P12L	TCEAL1_ENST00000372624.3_Missense_Mutation_p.P12L|TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372626.3_Missense_Mutation_p.P12L	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	12					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						GAAGAAGAGCCGCAGAGCGCG	0.527																																																	0													12	11	11					X																	102884879		2164	4233	6397	SO:0001583	missense	9338			M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.35C>T	X.37:g.102884879C>T	ENSP00000361708:p.Pro12Leu		Q9UJQ9	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.P12L	ENST00000372625.3	37	c.35	CCDS35358.1	X	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680470	0.47886	.	.	ENSG00000172465	ENST00000372626;ENST00000537029;ENST00000372625;ENST00000372624	T;T;T	0.10668	2.85;2.85;2.85	4.3	4.3	0.51218	.	0.157646	0.30446	N	0.009606	T	0.10981	0.0268	.	.	.	0.09310	N	0.999995	D	0.53745	0.962	B	0.42282	0.382	T	0.16482	-1.0401	9	0.87932	D	0	-2.1625	11.1588	0.48503	0.0:1.0:0.0:0.0	.	12	Q15170-2	.	L	12	ENSP00000361709:P12L;ENSP00000361708:P12L;ENSP00000361707:P12L	ENSP00000361707:P12L	P	+	2	0	TCEAL1	102771535	0.412000	0.25392	0.022000	0.16811	0.688000	0.40055	3.372000	0.52387	2.401000	0.81631	0.600000	0.82982	CCG	TCEAL1	-	pfam_TF_A-like/BEX-like		0.527	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL1	HGNC	protein_coding	OTTHUMT00000058903.1	C	NM_004780		102884879	1	no_errors	ENST00000372624	ensembl	human	known	70_37	missense	SNP	0.018	T	T	102884879	C	T	102884879	3	4	111	1	0	0	0	0	1	0	0	0	15700	652	23	2	37	2	TCEAL1	23	102884879	Missense_Mutation	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	16111926	102884879	52385681	244	16877										
PGRMC1	10857	genome.wustl.edu	37	chrX	118370404	118370404	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gggctgctgcatgagattttCacgtcgccgctcaacctgct	11	13	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:118370404C>T	ENST00000217971.7	+	1	189	c.78C>T	c.(76-78)ttC>ttT	p.F26F	PGRMC1_ENST00000535419.1_Silent_p.F26F	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	26					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	ATGAGATTTTCACGTCGCCGC	0.647																																																	0													35	27	30					X																	118370404		2199	4294	6493	SO:0001819	synonymous_variant	10857				CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.78C>T	X.37:g.118370404C>T			B7Z1L3|Q9UGJ9	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.F26	ENST00000217971.7	37	c.78	CCDS14576.1	X																																																																																			PGRMC1	-	NULL		0.647	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGRMC1	HGNC	protein_coding	OTTHUMT00000058024.1	C	NM_006667		118370404	1	no_errors	ENST00000217971	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118370404	C	T	118370404	2	4	111	1	0	0	0	0	0	0	0	1	11830	825	29	1		1	PGRMC1	23	118370404	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	15485525	118370404	36900156	245	16878			5	74		2	2	13	C		9.535461e-05
PGRMC1	10857	genome.wustl.edu	37	chrX	118370416	118370416	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	gagattttcacgtcgccgctCaacctgctgctgcttggcct	10	14	2	1			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:118370416C>T	ENST00000217971.7	+	1	201	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PGRMC1_ENST00000535419.1_Silent_p.L30L	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	30					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	CGTCGCCGCTCAACCTGCTGC	0.667																																																	0													35	25	29					X																	118370416		2200	4294	6494	SO:0001819	synonymous_variant	10857				CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.90C>T	X.37:g.118370416C>T			B7Z1L3|Q9UGJ9	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.L30	ENST00000217971.7	37	c.90	CCDS14576.1	X																																																																																			PGRMC1	-	NULL		0.667	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGRMC1	HGNC	protein_coding	OTTHUMT00000058024.1	C	NM_006667		118370416	1	no_errors	ENST00000217971	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118370416	C	T	118370416	2	4	111	1	0	0	0	0	0	0	0	1	11830	813	29	1		1	PGRMC1	23	118370416	Silent	SNP	C	TCGA-EK-A2RK-01A-11D-A18J-09	12	118370416	36900144	246	16879			5	74		2	2	13	C		9.535461e-05
MAGEC3	139081	genome.wustl.edu	37	chrX	140984784	140984784	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.516260162601626	127	1.96227810665401e-49	4.27194660734149	5.49818181818182	3.59751724137931	0.214649345703704	0.452630142027376	97	ctccgcagagtcctccccagAgtcctctagactcctgctca	7	18	2	3			TCGA-EK-A2RK-01A-11D-A18J-09	TCGA-EK-A2RK-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db76d80c-fc42-4c87-a81a-b24328659356	4899ab66-79f9-45d7-8334-ac9137cecb72	g.chrX:140984784A>T	ENST00000298296.1	+	7	1240	c.1240A>T	c.(1240-1242)Agt>Tgt	p.S414C	MAGEC3_ENST00000536088.1_Missense_Mutation_p.S116C|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S116C|MAGEC3_ENST00000443323.2_Missense_Mutation_p.S36C|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S116C	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	414	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					tcctccccagagtcctcTAGA	0.587																																																	0													26	24	25					X																	140984784		2203	4300	6503	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1240A>T	X.37:g.140984784A>T	ENSP00000298296:p.Ser414Cys		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S414C	ENST00000298296.1	37	c.1240	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	a	12.99	2.104712	0.37145	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.04119	3.87;3.7;3.73;3.7;3.7	1.18	1.18	0.20946	.	.	.	.	.	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	D;D	0.67145	0.976;0.996	D;P	0.63381	0.914;0.738	T	0.34925	-0.9809	9	0.66056	D	0.02	.	4.1545	0.10254	1.0:0.0:0.0:0.0	.	414;116	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	C	414;116;36;116;116	ENSP00000298296:S414C;ENSP00000441107:S116C;ENSP00000438254:S36C;ENSP00000440444:S116C;ENSP00000386566:S116C	ENSP00000298296:S414C	S	+	1	0	MAGEC3	140812450	0.151000	0.22747	0.022000	0.16811	0.291000	0.27294	1.519000	0.35888	0.706000	0.31912	0.150000	0.16122	AGT	MAGEC3	-	NULL		0.587	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	A	NM_138702		140984784	1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.021	T	T	140984784	A	T	140984784	3	4	111	1	0	0	0	0	1	0	0	0	9205	304	11	5	1495	5	MAGEC3	23	140984784	Missense_Mutation	SNP	A	TCGA-EK-A2RK-01A-11D-A18J-09	22614368	140984784	14285776	247	16880										
SH3GLB1	51100	genome.wustl.edu	37	chr1	87188292	87188292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	agacagagaactgattcaaaCgtcagccttaaattttctta	6	8	3	3			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:87188292C>T	ENST00000370558.4	+	4	737	c.413C>T	c.(412-414)aCg>aTg	p.T138M	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.T138M|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.T38M	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	138	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CTGATTCAAACGTCAGCCTTA	0.313																																																	0													89	106	101					1																	87188292		2203	4297	6500	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.413C>T	1.37:g.87188292C>T	ENSP00000473267:p.Thr138Met		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.T138M	ENST00000370558.4	37	c.413	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236798	0.79800	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.64260	-0.09;-0.09	5.73	5.73	0.89815	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.089843	0.85682	D	0.000000	T	0.75228	0.3821	M	0.74881	2.28	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.897	D;P;B	0.63597	0.916;0.897;0.393	T	0.76358	-0.2988	10	0.62326	D	0.03	-1.7537	19.8983	0.96975	0.0:1.0:0.0:0.0	.	38;138;138	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	M	138;38;138	ENSP00000441355:T38M;ENSP00000418744:T138M	ENSP00000212369:T138M	T	+	2	0	SH3GLB1	86960880	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.690000	0.61731	2.718000	0.92993	0.650000	0.86243	ACG	SH3GLB1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom		0.313	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	C	NM_016009		87188292	1	no_errors	ENST00000482504	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87188292	C	T	87188292	3	4	112	1	0	0	0	0	1	0	0	0	14283	536	19	2	427	2	SH3GLB1	1	87188292	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		87188292	162062329	1	16881										
GNPAT	8443	genome.wustl.edu	37	chr1	231402067	231402067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctctctgaaaattttggaagCatccatgtgtactttggaga	9	7	1	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr1:231402067C>T	ENST00000366647.4	+	8	1138	c.969C>T	c.(967-969)agC>agT	p.S323S	GNPAT_ENST00000366646.3_Silent_p.S262S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	323					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATTTTGGAAGCATCCATGTGT	0.428																																																	0													103	102	102					1																	231402067		2203	4300	6503	SO:0001819	synonymous_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.969C>T	1.37:g.231402067C>T			B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S323	ENST00000366647.4	37	c.969	CCDS1592.1	1																																																																																			GNPAT	-	NULL		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	C			231402067	1	no_errors	ENST00000366647	ensembl	human	known	70_37	silent	SNP	0.999	T	T	231402067	C	T	231402067	2	4	112	1	0	0	0	0	0	0	0	1	6560	709	25	4		4	GNPAT	1	231402067	Silent	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	144213775	231402067	17848554	2	16882										
OTOF	9381	genome.wustl.edu	37	chr2	26680943	26680943	+	3'UTR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctttttgaccatgtagccagGgaggctgtagaggaagagcc	14	8	0	3			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:26680943G>C	ENST00000272371.2	-	0	6283				OTOF_ENST00000403946.3_Missense_Mutation_p.P1987A|OTOF_ENST00000338581.6_3'UTR|OTOF_ENST00000402415.3_3'UTR|OTOF_ENST00000339598.3_Missense_Mutation_p.P1220A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTAGCCAGGGAGGCTGTAG	0.592																																					GBM(102;732 1451 20652 24062 31372)												0													83	79	80					2																	26680943		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.*163C>G	2.37:g.26680943G>C			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.P1220A	ENST00000272371.2	37	c.3658	CCDS1725.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.700549|4.700549	0.88924|0.88924	.|.	.|.	ENSG00000115155|ENSG00000115155	ENST00000339598;ENST00000403946|ENST00000361394	D;D|.	0.89810|.	-2.16;-2.57|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|.	.|.	.|.	.|.	T|T	0.76835|0.76835	0.4043|0.4043	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.80837|0.80837	-0.1204|-0.1204	8|5	0.87932|0.87932	D|D	0|0	.|.	17.426|17.426	0.87526|0.87526	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1220|.	Q9HC10-2|.	.|.	A|R	1220;1987|67	ENSP00000344521:P1220A;ENSP00000385255:P1987A|.	ENSP00000344521:P1220A|ENSP00000354472:P67R	P|P	-|-	1|2	0|0	OTOF|OTOF	26534447|26534447	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.970000|0.970000	0.65996|0.65996	9.746000|9.746000	0.98859|0.98859	2.203000|2.203000	0.70933|0.70933	0.551000|0.551000	0.68910|0.68910	CCT|CCC	OTOF	-	NULL		0.592	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	G			26680943	-1	no_errors	ENST00000339598	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26680943	G	C	26680943	1	2	112	0	1	0	0	0	0	0	0	0	11327	1232	43	4		4	OTOF	2	26680943	3'UTR	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		26680943	216518430	3	16883										
XPO1	7514	genome.wustl.edu	37	chr2	61711217	61711217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	agtaagaaaaagttcgttctAtgttcaggatattcttcaaa	7	5	4	1			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:61711217A>C	ENST00000401558.2	-	21	3259	c.2532T>G	c.(2530-2532)caT>caG	p.H844Q	RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.H844Q|XPO1_ENST00000404992.2_Missense_Mutation_p.H844Q|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	844					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGTTCGTTCTATGTTCAGGAT	0.373			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													89	93	91					2																	61711217		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2532T>G	2.37:g.61711217A>C	ENSP00000384863:p.His844Gln		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.H844Q	ENST00000401558.2	37	c.2532	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307941	0.81247	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.67345	-0.26;-0.26;-0.26	5.62	3.8	0.43715	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	H	0.94964	3.605	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.77004	0.985;0.989	D	0.85882	0.1423	10	0.62326	D	0.03	-11.8137	9.9684	0.41738	0.2865:0.0:0.7135:0.0	.	491;844	B3KWD0;O14980	.;XPO1_HUMAN	Q	844	ENSP00000384863:H844Q;ENSP00000385942:H844Q;ENSP00000385559:H844Q	ENSP00000384863:H844Q	H	-	3	2	XPO1	61564721	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.615000	0.46368	0.856000	0.35383	-0.119000	0.15052	CAT	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold		0.373	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	A	NM_003400		61711217	-1	no_errors	ENST00000401558	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61711217	A	C	61711217	3	2	112	1	0	0	0	0	1	0	0	0	17476	446	16	5	703	5	XPO1	2	61711217	Missense_Mutation	SNP	A	TCGA-EK-A2RL-01A-11D-A18J-09	35030274	61711217	181488156	4	16884										
ACVR2A	92	genome.wustl.edu	37	chr2	148674936	148674937	+	Frame_Shift_Ins	INS	-	-	A													0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	attacagttcattggtgcagINSaaaaacgaggcaccagtgtt							TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr2:148674936_148674937insA	ENST00000241416.7	+	6	1393_1394	c.757_758insA	c.(757-759)gaafs	p.E253fs	ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.E145fs|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.E253fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CATTGGTGCAGAAAAACGAGGC	0.381																																																	0																																										SO:0001589	frameshift_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.762dupA	2.37:g.148674941_148674941dupA	ENSP00000241416:p.Glu253fs		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.R255fs	ENST00000241416.7	37	c.757_758	CCDS33301.1	2																																																																																			ACVR2A	-	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		0.381	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	-	NM_001616		148674937	1	no_errors	ENST00000241416	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	148674937	-	A	148674936	7	5	112	1	0	1	1	0	0	0	0	0	223	943	33	0	779	0	ACVR2A	2	148674936	Frame_Shift_Ins	INS	-	TCGA-EK-A2RL-01A-11D-A18J-09	86963719	148674936	94524437	5	16885										
WDR52	55779	genome.wustl.edu	37	chr3	113120479	113120479	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tcattcatttttatcatagaGaagagattcacattcttgtc	5	7	5	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr3:113120479G>A	ENST00000295868.2	-	10	1440	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Silent_p.F426F|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTATCATAGAGAAGAGATTCA	0.348																																																	0													120	119	119					3																	113120479		2203	4300	6503	SO:0001819	synonymous_variant	55779																														ENST00000295868.2:c.1278C>T	3.37:g.113120479G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F426	ENST00000295868.2	37	c.1278	CCDS2972.1	3																																																																																			WDR52	-	superfamily_WD40_repeat_dom		0.348	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	G			113120479	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113120479	G	A	113120479	2	1	112	1	0	0	0	0	0	0	0	1	17335	933	33	1		1	WDR52	3	113120479	Silent	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		113120479	84901951	6	16886										
WHSC1	7468	genome.wustl.edu	37	chr4	1980533	1980533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	gcatgacttaggggcggcatCggtcagaagcaccaagactg	14	10	1	3	rs561070783		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:1980533C>T	ENST00000382895.3	+	24	4426	c.3995C>T	c.(3994-3996)tCg>tTg	p.S1332L	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.S680L|WHSC1_ENST00000508803.1_Missense_Mutation_p.S1332L|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1332L|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1332L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1332					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGCGGCATCGGTCAGAAGC	0.647			T	IGH@	MM								C|||	1	0.000199681	0	0	5008	,	,		15431	0		0.001	False		,,,				2504	0							Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													37	37	37					4																	1980533		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3995C>T	4.37:g.1980533C>T	ENSP00000372351:p.Ser1332Leu		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.S1332L	ENST00000382895.3	37	c.3995	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	7.131	0.579810	0.13686	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.97161	-3.65;-3.65;-3.65;-3.65;-4.27	4.66	3.81	0.43845	.	1.302470	0.05463	N	0.551653	D	0.92459	0.7606	N	0.08118	0	0.38775	D	0.954632	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.81718	-0.0805	10	0.51188	T	0.08	.	10.0371	0.42135	0.0:0.837:0.0:0.163	.	680;1332	A2A2T2;O96028	.;NSD2_HUMAN	L	1332;1332;1332;1332;680	ENSP00000423972:S1332L;ENSP00000372347:S1332L;ENSP00000372348:S1332L;ENSP00000372351:S1332L;ENSP00000372344:S680L	ENSP00000372344:S680L	S	+	2	0	WHSC1	1950331	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	2.220000	0.42908	1.170000	0.42753	0.655000	0.94253	TCG	WHSC1	-	NULL		0.647	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	C	NM_133330		1980533	1	no_errors	ENST00000382891	ensembl	human	known	70_37	missense	SNP	0.011	T	T	1980533	C	T	1980533	3	4	112	1	0	0	0	0	1	0	0	0	17393	893	31	1	4153	1	WHSC1	4	1980533	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		1980533	189173743	7	16887										
FBXW7	55294	genome.wustl.edu	37	chr4	153249384	153249384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tttcatgaagatgcatacaaCgcacagtggaagtatgccca	9	9	1	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:153249384C>A	ENST00000281708.4	-	9	2623	c.1394G>T	c.(1393-1395)cGt>cTt	p.R465L	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)											253	218	230					4																	153249384		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>T	4.37:g.153249384C>A	ENSP00000281708:p.Arg465Leu		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465L	ENST00000281708.4	37	c.1394	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.139751	0.94560	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	L	0.31294	0.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.50701	-0.8797	10	0.42905	T	0.14	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	465;347;385;289	ENSP00000281708:R465L;ENSP00000296555:R347L;ENSP00000263981:R385L;ENSP00000377528:R289L	ENSP00000263981:R385L	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153249384	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153249384	C	A	153249384	3	1	112	1	0	0	0	0	1	0	0	0	5787	536	19	2	745	2	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	151268851	153249384	37904892	8	16888										
STOX2	56977	genome.wustl.edu	37	chr4	184930517	184930517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	agtgcacctctccgcaacccGggaccatcacgccctctgcc	8	20	3	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr4:184930517G>A	ENST00000308497.4	+	3	1961	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	STOX2_ENST00000438269.1_Missense_Mutation_p.G176R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	176					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCCGCAACCCGGGACCATCAC	0.537																																																	0													91	96	94					4																	184930517		2138	4235	6373	SO:0001583	missense	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.526G>A	4.37:g.184930517G>A	ENSP00000311257:p.Gly176Arg		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.G176R	ENST00000308497.4	37	c.526	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106993	0.77096	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.78481	-0.18;-1.18;-1.12	5.25	4.4	0.53042	.	0.108120	0.64402	N	0.000005	T	0.75591	0.3870	M	0.62723	1.935	0.80722	D	1	D	0.54601	0.967	P	0.44921	0.464	T	0.74256	-0.3724	10	0.23891	T	0.37	-20.2284	14.0267	0.64590	0.0725:0.0:0.9275:0.0	.	176	Q9P2F5	STOX2_HUMAN	R	176;176;114	ENSP00000311257:G176R;ENSP00000390127:G176R;ENSP00000425388:G114R	ENSP00000311257:G176R	G	+	1	0	STOX2	185167511	1.000000	0.71417	0.860000	0.33809	0.532000	0.34746	7.769000	0.85360	1.579000	0.49836	0.655000	0.94253	GGG	STOX2	-	NULL		0.537	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	G	NM_020225		184930517	1	no_errors	ENST00000308497	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184930517	G	A	184930517	3	1	112	1	0	0	0	0	1	0	0	0	15350	1116	39	2	536	2	STOX2	4	184930517	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	31681133	184930517	6223759	9	16889										
DNAH5	1767	genome.wustl.edu	37	chr5	13868103	13868104	+	Splice_Site	INS	-	-	A													0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	aagcagggcataagattcctINSaaaaaaaaataggaaaaact					rs397769827|rs35398031|rs565809733|rs376631255	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr5:13868103_13868104insA	ENST00000265104.4	-	25	3939		c.e25-2		CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATAAGATTCCTAAAAAAAAATA	0.361									Kartagener syndrome																																								0																																										SO:0001630	splice_region_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3835-2->T	5.37:g.13868112_13868112dupA			Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	INS	-	e25-2	ENST00000265104.4	37	c.3835-3_3835-2	CCDS3882.1	5																																																																																			DNAH5	-	-		0.361	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	NM_001369	Intron	13868104	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	splice_site_ins	INS	0.997:0.001	A	A	13868104	-	A	13868103	8	5	112	1	0	1	1	0	0	0	1	0	4614	1536	53	0	10261	0	DNAH5	5	13868103	Splice_Site	INS	-	TCGA-EK-A2RL-01A-11D-A18J-09		13868103	167047157	10	16890										
CDK6	1021	genome.wustl.edu	37	chr7	92300823	92300823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctggactggagcaagacttcGggtgctctgtaccacagcgt	13	11	1	1			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:92300823G>A	ENST00000265734.4	-	5	975	c.564C>T	c.(562-564)ccC>ccT	p.P188P	CDK6_ENST00000424848.2_Silent_p.P188P	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCAAGACTTCGGGTGCTCTGT	0.502			T	MLLT10	ALL																																			Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													106	92	97					7																	92300823		2203	4300	6503	SO:0001819	synonymous_variant	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.564C>T	7.37:g.92300823G>A			A4D1G0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P188	ENST00000265734.4	37	c.564	CCDS5628.1	7																																																																																			CDK6	-	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		0.502	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	G			92300823	-1	no_errors	ENST00000265734	ensembl	human	known	70_37	silent	SNP	0.130	A	A	92300823	G	A	92300823	2	1	112	1	0	0	0	0	0	0	0	1	3153	1103	39	2		2	CDK6	7	92300823	Silent	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		92300823	66837840	11	16891										
TRRAP	8295	genome.wustl.edu	37	chr7	98529255	98529255	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ttggcccaggtcactgggaaGagtgtcacggtgatcatgga	15	8	3	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:98529255G>T	ENST00000359863.4	+	26	4028	c.3819G>T	c.(3817-3819)aaG>aaT	p.K1273N	TRRAP_ENST00000446306.3_Missense_Mutation_p.K1272N|TRRAP_ENST00000355540.3_Missense_Mutation_p.K1273N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1273					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACTGGGAAGAGTGTCACGG	0.468																																																	0													85	80	81					7																	98529255		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3819G>T	7.37:g.98529255G>T	ENSP00000352925:p.Lys1273Asn		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.K1273N	ENST00000359863.4	37	c.3819	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.442663|3.442663	0.63067|0.63067	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64991|.	3.55;-0.13|.	6.06|6.06	-0.659|-0.659	0.11424|0.11424	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71307|0.71307	0.3324|0.3324	M|M	0.80028|0.80028	2.48|2.48	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.76494|.	0.999;0.981;0.99|.	D;P;P|.	0.67382|.	0.951;0.697;0.796|.	T|T	0.70015|0.70015	-0.4988|-0.4988	10|5	0.27082|.	T|.	0.32|.	.|.	11.8082|11.8082	0.52167|0.52167	0.4905:0.0:0.5095:0.0|0.4905:0.0:0.5095:0.0	.|.	1273;987;1273|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	N|I	1273;1273;1271|988	ENSP00000352925:K1273N;ENSP00000347733:K1273N|.	ENSP00000347733:K1273N|.	K|R	+|+	3|2	2|0	TRRAP|TRRAP	98367191|98367191	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.835000|0.835000	0.47333|0.47333	1.018000|1.018000	0.30002|0.30002	-0.343000|-0.343000	0.08351|0.08351	-0.312000|-0.312000	0.09012|0.09012	AAG|AGA	TRRAP	-	superfamily_ARM-type_fold		0.468	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98529255	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	0.998	T	T	98529255	G	T	98529255	3	4	112	1	0	0	0	0	1	0	0	0	16632	933	33	3	3917	3	TRRAP	7	98529255	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	6228432	98529255	60609408	12	16892										
FAM115C	285966	genome.wustl.edu	37	chr7	143417362	143417362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tcaaagcaggctgcttccccGttcccacccctgagatgaga	9	15	1	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr7:143417362G>A	ENST00000441159.2	+	3	1276	c.1210G>A	c.(1210-1212)Gtt>Att	p.V404I	FAM115C_ENST00000409703.3_Missense_Mutation_p.V240I|FAM115C_ENST00000411497.2_Missense_Mutation_p.V123I|FAM115C_ENST00000411935.1_Missense_Mutation_p.V240I|FAM115C_ENST00000357344.4_Missense_Mutation_p.V404I|FAM115C_ENST00000425618.2_Missense_Mutation_p.V123I|FAM115C_ENST00000444908.2_Missense_Mutation_p.V404I			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	404					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CTGCTTCCCCGTTCCCACCCC	0.557																																																	0													1	1	1					7																	143417362		38	57	95	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1210G>A	7.37:g.143417362G>A	ENSP00000404265:p.Val404Ile		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.V404I	ENST00000441159.2	37	c.1210		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	1.572|1.572	-0.533869|-0.533869	0.04082|0.04082	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|.	.|.	.|.	3.53|3.53	-3.54|-3.54	0.04653|0.04653	.|.	.|0.646131	.|0.15514	.|N	.|0.258379	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.30326	.|0.276;0.034;0.027;0.057	.|B;B;B;B	.|0.23018	.|0.043;0.009;0.015;0.031	T|T	0.10086|0.10086	-1.0645|-1.0645	5|9	.|0.26408	.|T	.|0.33	-17.9062|-17.9062	8.9566|8.9566	0.35820|0.35820	0.6197:0.0:0.3803:0.0|0.6197:0.0:0.3803:0.0	.|.	.|240;404;123;404	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	H|I	218|404;123;404;404;240;240;123	.|.	.|ENSP00000349902:V404I	R|V	+|+	2|1	0|0	FAM115C|FAM115C	143048295|143048295	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.109000|0.109000	0.15417|0.15417	-0.977000|-0.977000	0.03537|0.03537	-1.909000|-1.909000	0.00523|0.00523	CGT|GTT	FAM115C	-	NULL		0.557	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	G	NM_173678		143417362	1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.006	A	A	143417362	G	A	143417362	3	1	112	1	0	0	0	0	1	0	0	0	5421	1145	40	2	1351	2	FAM115C	7	143417362	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	44888107	143417362	15721301	13	16893										
FGF20	26281	genome.wustl.edu	37	chr8	16859521	16859521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	aggccgcccagaaagcccccGacttcggctaagggagccat	12	15	0	1			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:16859521G>A	ENST00000180166.5	-	1	169	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	7					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAAAGCCCCCGACTTCGGCTA	0.637																																																	0													3	4	4					8																	16859521		1773	3765	5538	SO:0001819	synonymous_variant	26281			AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.21C>T	8.37:g.16859521G>A			B2RPH5	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.V7	ENST00000180166.5	37	c.21	CCDS5998.1	8																																																																																			FGF20	-	NULL		0.637	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF20	HGNC	protein_coding	OTTHUMT00000214030.1	G			16859521	-1	no_errors	ENST00000180166	ensembl	human	known	70_37	silent	SNP	0.997	A	A	16859521	G	A	16859521	2	1	112	1	0	0	0	0	0	0	0	1	5867	1045	37	1		1	FGF20	8	16859521	Silent	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		16859521	129504501	14	16894										
UNC5D	137970	genome.wustl.edu	37	chr8	35624428	35624428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tctcccctgcaggaagtcccGttctcccgcgtgtggtgcag	12	15	2	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr8:35624428G>A	ENST00000404895.2	+	15	2650	c.2322G>A	c.(2320-2322)ccG>ccA	p.P774P	UNC5D_ENST00000449677.1_Silent_p.P350P|UNC5D_ENST00000420357.1_Silent_p.P707P|UNC5D_ENST00000287272.2_Silent_p.P705P|UNC5D_ENST00000453357.2_Silent_p.P769P|UNC5D_ENST00000416672.1_Silent_p.P779P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	774					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)				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)		AGGAAGTCCCGTTCTCCCGCG	0.557																																																	0													86	74	78					8																	35624428		2203	4300	6503	SO:0001819	synonymous_variant	137970			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.2322G>A	8.37:g.35624428G>A			Q8WYP7	Silent	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.P774	ENST00000404895.2	37	c.2322	CCDS6093.2	8																																																																																			UNC5D	-	NULL		0.557	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35624428	1	no_errors	ENST00000404895	ensembl	human	known	70_37	silent	SNP	0.009	A	A	35624428	G	A	35624428	2	1	112	1	0	0	0	0	0	0	0	1	17026	1132	40	2		2	UNC5D	8	35624428	Silent	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	18764907	35624428	110739594	15	16895										
C10orf82	259217	genome.wustl.edu	37	chr10	118427793	118427793	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	atagcctggtgtgattggcaGgtttctcatgaaggtcttgg	14	6	2	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr10:118427793G>A	ENST00000369209.3	-	0	5722				RP11-498B4.5_ENST00000433600.1_RNA|C10orf82_ENST00000369210.3_Silent_p.L11L|C10orf82_ENST00000588184.1_Silent_p.L11L	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTGATTGGCAGGTTTCTCATG	0.542																																																	0													235	206	216					10																	118427793		2203	4300	6503	SO:0001628	intergenic_variant	143379			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107		10.37:g.118427793G>A				Silent	SNP	NULL	p.L11	ENST00000369209.3	37	c.31	CCDS41569.1	10																																																																																			C10orf82	-	NULL		0.542	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050530.1	G	NM_025015		118427793	-1	no_errors	ENST00000588184	ensembl	human	known	70_37	silent	SNP	0.011	A	A	118427793	G	A	118427793	1	1	112	0	1	0	0	0	0	0	0	0	1624	991	35	4		4	C10orf82	10	118427793	IGR	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		118427793	17106954	16	16896										
ANKK1	255239	genome.wustl.edu	37	chr11	113270974	113270974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ggtggttctaagccaggagcCgagatggaaatttagacaac	13	7	1	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr11:113270974C>T	ENST00000303941.3	+	8	2377	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	761							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGCCAGGAGCCGAGATGGAAA	0.577																																																	0													7	8	8					11																	113270974		1747	3781	5528	SO:0001819	synonymous_variant	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2283C>T	11.37:g.113270974C>T				Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A761	ENST00000303941.3	37	c.2283	CCDS44734.1	11																																																																																			ANKK1	-	superfamily_Ankyrin_rpt-contain_dom		0.577	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	C	NM_178510		113270974	1	no_errors	ENST00000303941	ensembl	human	known	70_37	silent	SNP	0.006	T	T	113270974	C	T	113270974	2	4	112	1	0	0	0	0	0	0	0	1	631	639	23	2		2	ANKK1	11	113270974	Silent	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		113270974	21735542	17	16897										
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25398284	C	T	25398284	3	4	112	1	0	0	0	0	1	0	0	0	8458	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		25398284	108453611	18	16898										
COL2A1	1280	genome.wustl.edu	37	chr12	48386683	48386683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	cagcgccagcagggccagtcCgtcctctttcaccaggcagg	12	16	2	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:48386683C>T	ENST00000380518.3	-	16	1165	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	COL2A1_ENST00000337299.6_Missense_Mutation_p.R265Q	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	334	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGGGCCAGTCCGTCCTCTTTC	0.537																																																	0													91	72	79					12																	48386683		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1001G>A	12.37:g.48386683C>T	ENSP00000369889:p.Arg334Gln		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R334Q	ENST00000380518.3	37	c.1001	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626401	0.87560	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93307	-3.2;-3.2	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.72576	2.205	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.68483	0.958;0.909	D	0.95690	0.8739	10	0.49607	T	0.09	.	16.636	0.85060	0.0:1.0:0.0:0.0	.	265;334	P02458-1;P02458	.;CO2A1_HUMAN	Q	334;265;265	ENSP00000369889:R334Q;ENSP00000338213:R265Q	ENSP00000338213:R265Q	R	-	2	0	COL2A1	46672950	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.591000	0.67536	2.532000	0.85374	0.655000	0.94253	CGG	COL2A1	-	NULL		0.537	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48386683	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48386683	C	T	48386683	3	4	112	1	0	0	0	0	1	0	0	0	3692	652	23	2	3618	2	COL2A1	12	48386683	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	22988399	48386683	85465212	19	16899										
TRHDE	29953	genome.wustl.edu	37	chr12	73012759	73012759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ttccttggcatgctgccagcCgagctctttatcctctagat	8	13	2	1			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr12:73012759C>T	ENST00000261180.4	+	13	2371	c.2275C>T	c.(2275-2277)Cga>Tga	p.R759*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCCAGCCGAGCTCTTTA	0.368																																																	0													52	56	54					12																	73012759		2201	4300	6501	SO:0001587	stop_gained	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2275C>T	12.37:g.73012759C>T	ENSP00000261180:p.Arg759*		A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R759*	ENST00000261180.4	37	c.2275	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.421876	0.97555	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.77	2.85	0.33270	.	0.073688	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	15.2017	0.73142	0.3681:0.6319:0.0:0.0	.	.	.	.	X	759	.	ENSP00000261180:R759X	R	+	1	2	TRHDE	71299026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.119000	0.41958	0.398000	0.25338	0.655000	0.94253	CGA	TRHDE	-	NULL		0.368	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	C	NM_013381		73012759	1	no_errors	ENST00000261180	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	73012759	C	T	73012759	4	4	112	1	0	0	0	0	0	1	0	0	16510	644	23	2	2325	2	TRHDE	12	73012759	Nonsense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	24626076	73012759	60839136	20	16900										
PRKD1	5587	genome.wustl.edu	37	chr14	30066911	30066911	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ggggtacccaccactgacctCcggaaagacttctctccaat	8	15	1	2			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:30066911C>A	ENST00000331968.5	-	16	2449	c.2220G>T	c.(2218-2220)cgG>cgT	p.R740R	PRKD1_ENST00000415220.2_Silent_p.R748R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCACTGACCTCCGGAAAGACT	0.483																																																	0													74	75	74					14																	30066911		2203	4300	6503	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2220G>T	14.37:g.30066911C>A			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.R740	ENST00000331968.5	37	c.2220	CCDS9637.1	14																																																																																			PRKD1	-	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		0.483	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	C	NM_002742		30066911	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30066911	C	A	30066911	2	1	112	1	0	0	0	0	0	0	0	1	12545	842	30	3		3	PRKD1	14	30066911	Silent	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		30066911	77282629	21	16901										
ADAM21	8747	genome.wustl.edu	37	chr14	70924696	70924697	+	Missense_Mutation	DNP	GA	GA	AG													0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tttgaacacctggtttataaGataaacagtaatgagacaca					rs77892318|rs386778613|rs45545935	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:70924696_70924697GA>AG	ENST00000603540.1	+	2	738_739	c.480_481GA>AG	c.(478-483)aaGAta>aaAGta	p.I161V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.I161V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	161				I -> V (in Ref. 1; AAD55255 and 3; AAI09025/AAI09026). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I161V(1)|p.K160K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGTTTATAAGATAAACAGTAA	0.426																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	stomach(2)																																								SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		Exception_encountered	14.37:g.70924696_70924697delinsAG	ENSP00000474385:p.Ile161Val		O43507|Q2VPC6|Q32MR0	Silent|Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K160|p.I161V	ENST00000603540.1	37	c.480|c.481	CCDS9804.1	14																																																																																			ADAM21	-	NULL		0.426	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G|A			70924696|70924697	1	no_errors	ENST00000267499	ensembl	human	known	70_37	silent|missense	SNP	0.001	A|G	AG	70924697	GA	AG	70924696	3	1	112	1	0	0	0	0	1	0	0	0	243	933	33	1	482	1	ADAM21	14	70924696	Missense_Mutation	DNP	GA	TCGA-EK-A2RL-01A-11D-A18J-09	40857785	70924696	36424844	22	16902										
C14orf115	55237	genome.wustl.edu	37	chr14	74824923	74824923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	attccttggaagagtgaggcGgaagagggggcagggaatgc	19	5	0	3			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr14:74824923G>A	ENST00000256362.4	+	2	1678	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	479					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGAGTGAGGCGGAAGAGGGGG	0.652																																																	0													35	40	38					14																	74824923		2202	4297	6499	SO:0001819	synonymous_variant	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1437G>A	14.37:g.74824923G>A			Q9NVC7	Silent	SNP	pfam_Transposase_8	p.A479	ENST00000256362.4	37	c.1437	CCDS9830.1	14																																																																																			VRTN	-	NULL		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824923	1	no_errors	ENST00000256362	ensembl	human	known	70_37	silent	SNP	0.000	A	A	74824923	G	A	74824923	2	1	112	1	0	0	0	0	0	0	0	1	1744	1103	39	2		2	C14orf115	14	74824923	Silent	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	3900227	74824923	32524617	23	16903										
CRAMP1L	57585	genome.wustl.edu	37	chr16	1664952	1664952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	cctccgagcgctgtggggagCggcaacgccggtggctcggg	19	13	0	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:1664952C>T	ENST00000397412.3	+	2	411	c.312C>T	c.(310-312)agC>agT	p.S104S	CRAMP1L_ENST00000436138.3_Silent_p.S104S|CRAMP1L_ENST00000293925.5_Silent_p.S104S|IFT140_ENST00000426508.2_5'Flank			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	104						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTGTGGGGAGCGGCAACGCCG	0.741																																																	0													4	9	7					16																	1664952		608	1506	2114	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.312C>T	16.37:g.1664952C>T			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S104	ENST00000397412.3	37	c.312	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL		0.741	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	C			1664952	1	no_errors	ENST00000293925	ensembl	human	known	70_37	silent	SNP	0.962	T	T	1664952	C	T	1664952	2	4	112	1	0	0	0	0	0	0	0	1	3851	767	27	2		2	CRAMP1L	16	1664952	Silent	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		1664952	88689801	24	16904										
PPL	5493	genome.wustl.edu	37	chr16	4949362	4949362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tcctgcagcgaactcaggtgCtgctgccgggcctgtgatgc	14	13	1	1			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:4949362C>A	ENST00000345988.2	-	7	719	c.630G>T	c.(628-630)caG>caT	p.Q210H	PPL_ENST00000590782.2_Missense_Mutation_p.Q208H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	210					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AACTCAGGTGCTGCTGCCGGG	0.647																																																	0													43	37	39					16																	4949362		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.630G>T	16.37:g.4949362C>A	ENSP00000340510:p.Gln210His		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q210H	ENST00000345988.2	37	c.630	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911264	0.72983	.	.	ENSG00000118898	ENST00000345988	D	0.93366	-3.21	4.93	4.93	0.64822	.	0.232684	0.37348	N	0.002122	D	0.93825	0.8025	L	0.35644	1.08	0.33306	D	0.565407	D	0.62365	0.991	P	0.57548	0.823	D	0.96028	0.9014	10	0.72032	D	0.01	.	18.1262	0.89586	0.0:1.0:0.0:0.0	.	210	O60437	PEPL_HUMAN	H	210	ENSP00000340510:Q210H	ENSP00000340510:Q210H	Q	-	3	2	PPL	4889363	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.296000	0.43584	2.446000	0.82766	0.561000	0.74099	CAG	PPL	-	smart_Spectrin/alpha-actinin		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4949362	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4949362	C	A	4949362	3	1	112	1	0	0	0	0	1	0	0	0	12361	796	28	4	4704	4	PPL	16	4949362	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	3284410	4949362	85405391	25	16905										
KIAA0556	23247	genome.wustl.edu	37	chr16	27642395	27642395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctctggtgcagattatggacGaagaactctgtttcgagaag	12	7	2	3			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:27642395G>A	ENST00000261588.4	+	5	339	c.320G>A	c.(319-321)cGa>cAa	p.R107Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	107						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATTATGGACGAAGAACTCTG	0.517																																																	0													45	35	38					16																	27642395		2194	4297	6491	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.320G>A	16.37:g.27642395G>A	ENSP00000261588:p.Arg107Gln		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.R107Q	ENST00000261588.4	37	c.320	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	3.611	-0.079605	0.07141	.	.	ENSG00000047578	ENST00000261588	T	0.40476	1.03	4.85	0.677	0.17964	.	0.704330	0.12385	N	0.473529	T	0.34106	0.0886	L	0.60455	1.87	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.28618	-1.0038	10	0.22706	T	0.39	-3.9413	7.1135	0.25403	0.3826:0.0:0.6174:0.0	.	107	O60303	K0556_HUMAN	Q	107	ENSP00000261588:R107Q	ENSP00000261588:R107Q	R	+	2	0	KIAA0556	27549896	0.855000	0.29742	0.380000	0.26093	0.081000	0.17604	0.419000	0.21247	-0.107000	0.12088	-0.263000	0.10527	CGA	KIAA0556	-	NULL		0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27642395	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.298	A	A	27642395	G	A	27642395	3	1	112	1	0	0	0	0	1	0	0	0	8203	1058	37	1	338	1	KIAA0556	16	27642395	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	22693033	27642395	62712358	26	16906										
MT1H	4496	genome.wustl.edu	37	chr16	56704434	56704434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	gcaggtggctcctgcgcctgCgccggctcctgcaagtgcaa	14	15	0	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr16:56704434C>T	ENST00000332374.4	+	2	116	c.45C>T	c.(43-45)tgC>tgT	p.C15C	MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000568675.1_5'Flank|MT1H_ENST00000569155.1_Silent_p.C15C|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	15	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CCTGCGCCTGCGCCGGCTCCT	0.552																																																	0													76	73	74					16																	56704434		2198	4300	6498	SO:0001819	synonymous_variant	4496			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.45C>T	16.37:g.56704434C>T			B2RUY6	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.C15	ENST00000332374.4	37	c.45	CCDS10767.1	16																																																																																			MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert		0.552	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	C	NM_005951		56704434	1	no_errors	ENST00000332374	ensembl	human	known	70_37	silent	SNP	0.053	T	T	56704434	C	T	56704434	2	4	112	1	0	0	0	0	0	0	0	1	9925	776	27	2		2	MT1H	16	56704434	Silent	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	29062039	56704434	33650319	27	16907										
MYH1	4619	genome.wustl.edu	37	chr17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	actcagttgatcttctagagCgcggcacatcttttcaaggt	9	10	5	2	rs142605633	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr17:10404045C>T	ENST00000226207.5	-	28	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1255					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1255T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	0,4406		0,0,2203	146	129	135		3763	3.1	0.1	17	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH1	NM_005963.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1255/1940	10404045	2,13004	2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3763G>A	17.37:g.10404045C>T	ENSP00000226207:p.Ala1255Thr		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1255T	ENST00000226207.5	37	c.3763	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	2.155	-0.393510	0.04899	0.0	2.33E-4	ENSG00000109061	ENST00000226207	D	0.82433	-1.61	5.45	3.12	0.35913	Myosin tail (1);	0.320500	0.22216	N	0.063022	T	0.47930	0.1472	N	0.00468	-1.46	0.26872	N	0.967733	B	0.02656	0.0	B	0.04013	0.001	T	0.49103	-0.8974	10	0.02654	T	1	.	9.6684	0.39998	0.0:0.2075:0.0:0.7925	.	1255	P12882	MYH1_HUMAN	T	1255	ENSP00000226207:A1255T	ENSP00000226207:A1255T	A	-	1	0	MYH1	10344770	0.018000	0.18449	0.146000	0.22360	0.752000	0.42762	0.160000	0.16462	0.445000	0.26639	-0.300000	0.09419	GCT	MYH1	-	pfam_Myosin_tail,superfamily_Prefoldin		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10404045	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	0.905	T	T	10404045	C	T	10404045	3	4	112	1	0	0	0	0	1	0	0	0	10052	768	27	2	2108	2	MYH1	17	10404045	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		10404045	70791165	28	16908										
SYNGR2	9144	genome.wustl.edu	37	chr17	76167900	76167900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	aattacgttgaccccactccGgaccccaacactgcctacgc	6	18	0	1	rs142613283	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr17:76167900G>A	ENST00000225777.3	+	4	617	c.558G>A	c.(556-558)ccG>ccA	p.P186P	SYNGR2_ENST00000585591.1_Silent_p.P186P|SYNGR2_ENST00000588282.1_Missense_Mutation_p.R216Q|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Silent_p.P130P			O43760	SNG2_HUMAN	synaptogyrin 2	186					protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			ACCCCACTCCGGACCCCAACA	0.627													G|||	2	0.000399361	0	0	5008	,	,		17633	0		0	False		,,,				2504	0.002																0								G		1,4405	2.1+/-5.4	0,1,2202	120	105	110		558	-9	0	17	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYNGR2	NM_004710.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		186/225	76167900	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9144			AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"cellugyrin"	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.558G>A	17.37:g.76167900G>A			O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.R216Q	ENST00000225777.3	37	c.647	CCDS11753.1	17																																																																																			SYNGR2	-	NULL		0.627	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR2	HGNC	protein_coding	OTTHUMT00000437009.2	G			76167900	1	no_errors	ENST00000588282	ensembl	human	putative	70_37	missense	SNP	0.000	A	A	76167900	G	A	76167900	2	1	112	1	0	0	0	0	0	0	0	1	15479	1103	39	2		2	SYNGR2	17	76167900	Silent	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	65763855	76167900	5027310	29	16909										
ZCCHC2	54877	genome.wustl.edu	37	chr18	60190786	60190787	+	In_Frame_Ins	INS	-	-	CCG													0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	gccgccgcgactgccgccccINSccgccgccgccgccgccgcc					rs563687016	byFrequency	TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr18:60190786_60190787insCCG	ENST00000269499.5	+	1	547_548	c.129_130insCCG	c.(130-132)ccg>CCGccg	p.44_44P>PP		NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	44	Pro-rich.					cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						actgccgccccccgccgccgcc	0.871														2653	0.529752	0.615	0.5202	5008	,	,		1383	0.3948		0.6392	False		,,,				2504	0.4479																0																																										SO:0001652	inframe_insertion	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.145_147dupCCG	18.37:g.60190793_60190795dupCCG	ENSP00000269499:p.Pro50dup		B2RPG6|Q8N3S1|Q9NXF6	In_Frame_Ins	INS	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.47in_frame_insP	ENST00000269499.5	37	c.129_130	CCDS45880.1	18																																																																																			ZCCHC2	-	NULL		0.871	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	-	NM_017742		60190787	1	no_errors	ENST00000269499	ensembl	human	known	70_37	in_frame_ins	INS	0.978:0.996	CCG	CCG	60190787	-	CCG	60190786	7	5	112	1	0	1	1	0	0	0	0	0	17617	610	22	0	131	0	ZCCHC2	18	60190786	In_Frame_Ins	INS	-	TCGA-EK-A2RL-01A-11D-A18J-09		60190786	17886462	30	16910										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8649845	8649845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctgctgcgtggtgggcggccGcagggcctccgtgcactcgt	17	14	0	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:8649845G>A	ENST00000597188.1	-	25	3406	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R533W|AC130469.2_ENST00000597256.1_RNA|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R1046W	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1046	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTGGGCGGCCGCAGGGCCTCC	0.726																																																	0													4	4	4					19																	8649845		1743	3224	4967	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3136C>T	19.37:g.8649845G>A	ENSP00000471851:p.Arg1046Trp		M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1046W	ENST00000597188.1	37	c.3136	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350538	0.82132	.	.	ENSG00000142303	ENST00000270328	T	0.54479	0.57	4.85	3.8	0.43715	.	0.186033	0.36972	U	0.002302	T	0.74405	0.3712	M	0.87097	2.86	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.80764	0.956;0.994	T	0.79200	-0.1901	10	0.87932	D	0	.	13.1761	0.59629	0.0:0.0:0.8296:0.1704	.	1046;533	Q9H324;E9PCI6	ATS10_HUMAN;.	W	1046	ENSP00000270328:R1046W	ENSP00000270328:R1046W	R	-	1	2	ADAMTS10	8555845	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	2.196000	0.42686	0.992000	0.38840	0.555000	0.69702	CGG	ADAMTS10	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.726	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	G	NM_030957		8649845	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8649845	G	A	8649845	3	1	112	1	0	0	0	0	1	0	0	0	256	1086	38	2	183	2	ADAMTS10	19	8649845	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		8649845	50479138	31	16911										
CYP4F12	66002	genome.wustl.edu	37	chr19	15806798	15806798	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tgtgcgtgaaggagagcctgAggttacatcccccagctccc	12	13	0	3			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:15806798A>T	ENST00000550308.1	+	10	1548	c.1168A>T	c.(1168-1170)Agg>Tgg	p.R390W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R390W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	390					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGAGAGCCTGAGGTTACATCC	0.582																																																	0													96	93	94					19																	15806798		2203	4300	6503	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1168A>T	19.37:g.15806798A>T	ENSP00000448998:p.Arg390Trp		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R390W	ENST00000550308.1	37	c.1168	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433075	0.25813	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.97505	-4.41;-4.41	2.41	0.216	0.15258	.	0.000000	0.64402	U	0.000002	D	0.98826	0.9604	H	0.99368	4.535	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.96106	0.9073	10	0.87932	D	0	.	4.9778	0.14149	0.2075:0.6657:0.0:0.1269	.	390	Q9HCS2	CP4FC_HUMAN	W	390	ENSP00000448998:R390W;ENSP00000321821:R390W	ENSP00000321821:R390W	R	+	1	2	CYP4F12	15667798	0.997000	0.39634	0.789000	0.31954	0.043000	0.13939	0.742000	0.26216	0.126000	0.18424	-2.506000	0.00189	AGG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.582	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	A			15806798	1	no_errors	ENST00000324632	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15806798	A	T	15806798	3	4	112	1	0	0	0	0	1	0	0	0	4192	295	11	5	1202	5	CYP4F12	19	15806798	Missense_Mutation	SNP	A	TCGA-EK-A2RL-01A-11D-A18J-09	7156953	15806798	43322185	32	16912										
CPAMD8	27151	genome.wustl.edu	37	chr19	17132955	17132955	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctgatgacttcctccacgccCgcgcgaaaaacagagggagc	11	14	0	3			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:17132955C>G	ENST00000443236.1	-	2	301	c.270G>C	c.(268-270)gcG>gcC	p.A90A	CPAMD8_ENST00000388925.4_Silent_p.A43A	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	43						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCCACGCCCGCGCGAAAAA	0.602																																																	0													31	31	31					19																	17132955		1944	4138	6082	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.270G>C	19.37:g.17132955C>G			Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.A90	ENST00000443236.1	37	c.270	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	C	1.460	-0.562552	0.03939	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.06	-6.11	0.02131	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37337	-0.9710	4	.	.	.	.	1.3359	0.02145	0.2066:0.114:0.3255:0.3539	.	.	.	.	P	101	.	.	R	-	2	0	CPAMD8	16993955	0.002000	0.14202	0.649000	0.29536	0.204000	0.24138	-3.049000	0.00629	-1.295000	0.02357	-0.218000	0.12543	CGG	CPAMD8	-	NULL		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	C	NM_015692		17132955	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	silent	SNP	0.362	G	G	17132955	C	G	17132955	2	3	112	1	0	0	0	0	0	0	0	1	3800	639	23	2		2	CPAMD8	19	17132955	Silent	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	1326157	17132955	41996028	33	16913										
ZNF264	9422	genome.wustl.edu	37	chr19	57724021	57724021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	atgtgttgagtgtgggaaatCgttttgctggagcacaaacc	13	6	0	1			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr19:57724021C>T	ENST00000263095.6	+	4	1970	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	ZNF264_ENST00000536056.1_Missense_Mutation_p.S519L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGTGGGAAATCGTTTTGCTGG	0.512																																																	0													90	91	90					19																	57724021		2203	4300	6503	SO:0001583	missense	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1556C>T	19.37:g.57724021C>T	ENSP00000263095:p.Ser519Leu		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S519L	ENST00000263095.6	37	c.1556	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104496	0.20632	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.50813	0.73;0.73	1.98	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33847	0.0877	L	0.52823	1.66	0.09310	N	1	P	0.42483	0.781	B	0.31547	0.132	T	0.38779	-0.9645	9	0.87932	D	0	.	4.4194	0.11472	0.2523:0.4999:0.2478:0.0	.	519	O43296	ZN264_HUMAN	L	519	ENSP00000263095:S519L;ENSP00000440376:S519L	ENSP00000263095:S519L	S	+	2	0	ZNF264	62415833	0.000000	0.05858	0.093000	0.20910	0.758000	0.43043	-0.313000	0.08103	1.434000	0.47414	0.491000	0.48974	TCG	ZNF264	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	C			57724021	1	no_errors	ENST00000263095	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57724021	C	T	57724021	3	4	112	1	0	0	0	0	1	0	0	0	17834	893	31	1	1570	1	ZNF264	19	57724021	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09	40591066	57724021	1404962	34	16914										
ASCC2	84164	genome.wustl.edu	37	chr22	30189461	30189461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	actgtggtagggcaggctctCgcctggctgcagtggcacct	15	12	1	0	rs146488197		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr22:30189461C>T	ENST00000397771.2	-	18	1984	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	ASCC2_ENST00000307790.3_Missense_Mutation_p.E603K|ASCC2_ENST00000542393.1_Missense_Mutation_p.E527K			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCAGGCTCTCGCCTGGCTGC	0.607																																																	0								C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73	57	62		1579,1807	5.2	0.7	22	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	ASCC2	NM_001242906.1,NM_032204.4	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	527/682,603/758	30189461	1,13005	2203	4300	6503	SO:0001583	missense	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1807G>A	22.37:g.30189461C>T	ENSP00000380877:p.Glu603Lys		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.E603K	ENST00000397771.2	37	c.1807	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269681	0.40095	2.27E-4	0.0	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.09445	2.98;2.98;2.98	5.23	5.23	0.72850	.	0.235197	0.43260	D	0.000588	T	0.11836	0.0288	L	0.47716	1.5	0.45554	D	0.998503	B;B	0.25007	0.116;0.071	B;B	0.24006	0.05;0.014	T	0.10268	-1.0637	10	0.20046	T	0.44	-15.46	16.111	0.81263	0.0:1.0:0.0:0.0	.	527;603	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	K	603;603;527	ENSP00000305502:E603K;ENSP00000380877:E603K;ENSP00000437570:E527K	ENSP00000305502:E603K	E	-	1	0	ASCC2	28519461	0.504000	0.26123	0.690000	0.30148	0.298000	0.27526	2.446000	0.44908	2.722000	0.93159	0.609000	0.83330	GAG	ASCC2	-	NULL		0.607	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	C	NM_032204		30189461	-1	no_errors	ENST00000307790	ensembl	human	known	70_37	missense	SNP	0.900	T	T	30189461	C	T	30189461	3	4	112	1	0	0	0	0	1	0	0	0	1033	893	31	1	482	1	ASCC2	22	30189461	Missense_Mutation	SNP	C	TCGA-EK-A2RL-01A-11D-A18J-09		30189461	21115105	35	16915										
TOM1	10043	genome.wustl.edu	37	chr22	35719764	35719764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	tgttttcctcccactagaccGtgttcaactcagagacacaa	6	13	2	2	rs371088274		TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chr22:35719764G>A	ENST00000449058.2	+	6	630	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	TOM1_ENST00000447733.1_Missense_Mutation_p.V136M|TOM1_ENST00000425375.1_Missense_Mutation_p.V124M|TOM1_ENST00000436462.2_Missense_Mutation_p.V131M|TOM1_ENST00000382034.5_Missense_Mutation_p.V102M|TOM1_ENST00000411850.1_Missense_Mutation_p.V169M	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	169					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCACTAGACCGTGTTCAACTC	0.597																																																	0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	80	73	76		406,370,505,505	4.7	1	22		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TOM1	NM_001135729.1,NM_001135730.1,NM_001135732.1,NM_005488.2	21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	136/461,124/448,169/494,169/493	35719764	1,13005	2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.505G>A	22.37:g.35719764G>A	ENSP00000394466:p.Val169Met		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.V169M	ENST00000449058.2	37	c.505	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432944	0.43224	0.0	1.16E-4	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034;ENST00000443206	T;T;T;T;T;T;T;T	0.34472	1.66;1.71;1.67;1.66;1.99;1.64;1.7;1.36	4.74	4.74	0.60224	.	0.399258	0.25211	N	0.032314	T	0.58119	0.2100	M	0.80616	2.505	0.51767	D	0.99993	D;D;D;D;D	0.89917	1.0;0.999;0.983;0.997;0.992	D;P;P;P;P	0.62955	0.909;0.839;0.65;0.872;0.66	T	0.63897	-0.6533	10	0.72032	D	0.01	1.2817	12.4532	0.55688	0.0:0.0:0.8323:0.1677	.	124;131;178;169;169	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	M	136;163;169;169;124;178;131;102;136	ENSP00000398876:V136M;ENSP00000393714:V163M;ENSP00000394466:V169M;ENSP00000413697:V169M;ENSP00000394924:V124M;ENSP00000402556:V131M;ENSP00000371465:V102M;ENSP00000389789:V136M	ENSP00000371465:V102M	V	+	1	0	TOM1	34049764	1.000000	0.71417	0.951000	0.38953	0.298000	0.27526	4.376000	0.59556	2.187000	0.69744	0.561000	0.74099	GTG	TOM1	-	pirsf_TOM1		0.597	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	G	NM_005488		35719764	1	no_errors	ENST00000411850	ensembl	human	known	70_37	missense	SNP	0.648	A	A	35719764	G	A	35719764	3	1	112	1	0	0	0	0	1	0	0	0	16381	1145	40	2	527	2	TOM1	22	35719764	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09	5530303	35719764	15584802	36	16916										
ATRX	546	genome.wustl.edu	37	chrX	76778779	76778779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.279411764705882	0	0.302696078431373	1	1	0	ctgcttttctttcttcttcaGtcaactcttcttcttctttg	3	12	9	0			TCGA-EK-A2RL-01A-11D-A18J-09	TCGA-EK-A2RL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fda5878e-5f0c-4447-9169-48865e7c3779	6ef4b38a-ded9-4d85-bdf4-bdfa495e235a	g.chrX:76778779G>T	ENST00000373344.5	-	31	7014	c.6800C>A	c.(6799-6801)aCt>aAt	p.T2267N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T2229N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2267	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCTTCAGTCAACTCTTC	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													244	200	215					X																	76778779		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6800C>A	X.37:g.76778779G>T	ENSP00000362441:p.Thr2267Asn		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T2267N	ENST00000373344.5	37	c.6800	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216719	0.39201	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93247	-3.18;-3.19	5.35	5.35	0.76521	.	0.068692	0.64402	U	0.000017	D	0.95465	0.8527	L	0.55990	1.75	0.80722	D	1	D;D	0.71674	0.998;0.979	D;P	0.66351	0.943;0.814	D	0.95221	0.8334	10	0.46703	T	0.11	-8.6807	18.1671	0.89732	0.0:0.0:1.0:0.0	.	2229;2267	P46100-4;P46100	.;ATRX_HUMAN	N	2267;2229	ENSP00000362441:T2267N;ENSP00000378967:T2229N	ENSP00000362441:T2267N	T	-	2	0	ATRX	76665435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.989000	0.76219	2.228000	0.72767	0.538000	0.68166	ACT	ATRX	-	NULL		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76778779	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76778779	G	T	76778779	3	4	112	1	0	0	0	0	1	0	0	0	1209	1029	36	4	698	4	ATRX	23	76778779	Missense_Mutation	SNP	G	TCGA-EK-A2RL-01A-11D-A18J-09		76778779	78491781	37	16917										
FAM104A	84923	genome.wustl.edu	37	chr17	71228291	71228291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	1	1	0.125161290322581	14.5	14.5	NA	1	1	0	gcggcgccgctccgcgaagaGagggaacagagggggttgtg	20	9	0	2	rs569512877		TCGA-EK-A2RM-01A-21D-A18J-09	TCGA-EK-A2RM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	801e67c8-c506-410a-bdf0-856a66e974f4	b2a9b6b3-8ae5-4da7-ae2e-02cb5b0390b2	g.chr17:71228291G>C	ENST00000403627.3	-	1	215	c.155C>G	c.(154-156)tCt>tGt	p.S52C	C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.S52C|C17orf80_ENST00000359042.2_5'Flank|FAM104A_ENST00000405159.3_Missense_Mutation_p.S52C|C17orf80_ENST00000582793.1_5'Flank|C17orf80_ENST00000577615.1_5'Flank|FAM104A_ENST00000583024.1_Missense_Mutation_p.S52C|C17orf80_ENST00000255557.4_5'Flank|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000268942.8_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	52										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCCGCGAAGAGAGGGAACAGA	0.706													G|||	1	0.000199681	8e-04	0	5008	,	,		12577	0		0	False		,,,				2504	0																0													18	22	20					17																	71228291		2200	4297	6497	SO:0001583	missense	84923			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.155C>G	17.37:g.71228291G>C	ENSP00000384648:p.Ser52Cys		B4E339	Missense_Mutation	SNP	NULL	p.S52C	ENST00000403627.3	37	c.155	CCDS11693.2	17	.	.	.	.	.	.	.	.	.	.	G	4.774	0.143893	0.09134	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.47177	0.85;0.86	4.75	1.61	0.23674	.	.	.	.	.	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.17349	-1.0372	9	0.36615	T	0.2	.	4.6392	0.12540	0.2012:0.1899:0.609:0.0	.	52;52	Q969W3-2;Q969W3	.;F104A_HUMAN	C	52	ENSP00000384648:S52C;ENSP00000384832:S52C	ENSP00000384648:S52C	S	-	2	0	FAM104A	68739886	0.671000	0.27521	0.000000	0.03702	0.019000	0.09904	2.392000	0.44433	0.209000	0.20645	0.655000	0.94253	TCT	FAM104A	-	NULL		0.706	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	HGNC	protein_coding	OTTHUMT00000318935.1	G	NM_032837		71228291	-1	no_errors	ENST00000405159	ensembl	human	known	70_37	missense	SNP	0.000	C	C	71228291	G	C	71228291	3	2	113	1	0	0	0	0	1	0	0	0	5400	942	33	1	484	1	FAM104A	17	71228291	Missense_Mutation	SNP	G	TCGA-EK-A2RM-01A-21D-A18J-09		71228291	9966919	1	16918										
CHD5	26038	genome.wustl.edu	37	chr1	6202574	6202574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgccctgggcccaagagaagCgcagccagttgaggccctcc	13	15	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:6202574C>T	ENST00000262450.3	-	14	2234	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAAGAGAAGCGCAGCCAGTT	0.612																																																	0													120	86	98					1																	6202574		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2135G>A	1.37:g.6202574C>T	ENSP00000262450:p.Arg712His		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R712H	ENST00000262450.3	37	c.2135	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742144	0.89573	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93019	-3.15	3.43	3.43	0.39272	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.94644	0.8273	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.95270	0.8376	10	0.72032	D	0.01	-18.6991	15.3972	0.74805	0.0:1.0:0.0:0.0	.	712	Q8TDI0	CHD5_HUMAN	H	712;228;120;120	ENSP00000262450:R712H	ENSP00000262450:R712H	R	-	2	0	CHD5	6125161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.554000	0.82212	1.895000	0.54865	0.561000	0.74099	CGC	CHD5	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.612	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	C	NM_015557		6202574	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6202574	C	T	6202574	3	4	114	1	0	0	0	0	1	0	0	0	3333	768	27	2	3841	2	CHD5	1	6202574	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		6202574	243048047	1	16919										
EPHA8	2046	genome.wustl.edu	37	chr1	22903298	22903298	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccaagatgtactgcagcgcgGagggcgagtggctcgtgccc	16	12	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:22903298G>C	ENST00000166244.3	+	3	820	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.E250Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.E250Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	250	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCAGCGCGGAGGGCGAGTG	0.687																																																	0													43	42	42					1																	22903298		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.748G>C	1.37:g.22903298G>C	ENSP00000166244:p.Glu250Gln		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E250Q	ENST00000166244.3	37	c.748	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402663	0.83230	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.74737	-0.87;4.94;4.94	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.69823	2.125	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.991	D	0.86942	0.2080	10	0.87932	D	0	.	15.0354	0.71741	0.0:0.0:1.0:0.0	.	250;250	P29322;P29322-2	EPHA8_HUMAN;.	Q	250	ENSP00000166244:E250Q;ENSP00000363775:E250Q;ENSP00000440274:E250Q	ENSP00000166244:E250Q	E	+	1	0	EPHA8	22775885	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.563000	0.98148	2.103000	0.63969	0.442000	0.29010	GAG	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	G	NM_020526		22903298	1	no_errors	ENST00000166244	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22903298	G	C	22903298	3	2	114	1	0	0	0	0	1	0	0	0	5185	1175	41	1	758	1	EPHA8	1	22903298	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	16700724	22903298	226347323	2	16920										
MATN1	4146	genome.wustl.edu	37	chr1	31194483	31194483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gcattgggccccacgtccagCgactcgatgacctgggacag	13	14	0	1	rs139060426	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:31194483C>T	ENST00000373765.4	-	2	245	c.210G>A	c.(208-210)tcG>tcA	p.S70S	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	70	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CCACGTCCAGCGACTCGATGA	0.602													C|||	2	0.000399361	0.0015	0	5008	,	,		20401	0		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	73	79	77		210	-9.2	0.5	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	MATN1	NM_002379.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		70/497	31194483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.210G>A	1.37:g.31194483C>T			B2R7E3|Q5TBB9	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A	p.S70	ENST00000373765.4	37	c.210	CCDS336.1	1																																																																																			MATN1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.602	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1	HGNC	protein_coding	OTTHUMT00000010458.1	C	NM_002379		31194483	-1	no_errors	ENST00000373765	ensembl	human	known	70_37	silent	SNP	0.016	T	T	31194483	C	T	31194483	2	4	114	1	0	0	0	0	0	0	0	1	9356	755	27	2		2	MATN1	1	31194483	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	8291185	31194483	218056138	3	16921										
GNL2	29889	genome.wustl.edu	37	chr1	38032562	38032562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cgttgtgtgtttcatagtagCgcacaccaacttttttcggc	9	10	1	0	rs374278862		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:38032562C>T	ENST00000373062.3	-	16	2188	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	697					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTCATAGTAGCGCACACCAAC	0.403																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	194	175	182		2090	5.4	1	1		182	0,8600		0,0,4300	no	missense	GNL2	NM_013285.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	697/732	38032562	1,13005	2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2090G>A	1.37:g.38032562C>T	ENSP00000362153:p.Arg697His		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.R697H	ENST00000373062.3	37	c.2090	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675179	0.88445	2.27E-4	0.0	ENSG00000134697	ENST00000373062	T	0.23348	1.91	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07271	-1.0781	10	0.33141	T	0.24	-9.6294	19.4985	0.95083	0.0:1.0:0.0:0.0	.	697	Q13823	NOG2_HUMAN	H	697	ENSP00000362153:R697H	ENSP00000362153:R697H	R	-	2	0	GNL2	37805149	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	4.748000	0.62148	2.698000	0.92095	0.561000	0.74099	CGC	GNL2	-	NULL		0.403	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	C	NM_013285		38032562	-1	no_errors	ENST00000373062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38032562	C	T	38032562	3	4	114	1	0	0	0	0	1	0	0	0	6555	768	27	2	109	2	GNL2	1	38032562	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	6838079	38032562	211218059	4	16922										
ECHDC2	55268	genome.wustl.edu	37	chr1	53373550	53373550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agatcctcaccgatgtcattCatcaggccccggagtcgctg	10	14	4	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:53373550C>T	ENST00000371522.4	-	4	447	c.354G>A	c.(352-354)atG>atA	p.M118I	ECHDC2_ENST00000358358.5_Missense_Mutation_p.M118I|ECHDC2_ENST00000536120.1_Missense_Mutation_p.M72I|ECHDC2_ENST00000541281.1_Missense_Mutation_p.M72I	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	118					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CGATGTCATTCATCAGGCCCC	0.612																																																	0													90	84	86					1																	53373550		2203	4300	6503	SO:0001583	missense	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.354G>A	1.37:g.53373550C>T	ENSP00000360577:p.Met118Ile		D3DQ36|Q9NV38	Missense_Mutation	SNP	pfam_Crotonase_core	p.M118I	ENST00000371522.4	37	c.354	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	c	10.74	1.435401	0.25813	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.75589	-0.19;-0.95;-0.19;-0.95;-0.19	5.19	5.19	0.71726	Crotonase, core (1);	0.157236	0.64402	D	0.000001	T	0.61615	0.2361	N	0.10809	0.05	0.45762	D	0.998651	P;P;P	0.40834	0.659;0.571;0.73	B;B;B	0.42319	0.191;0.383;0.264	T	0.63166	-0.6698	10	0.30078	T	0.28	.	17.9087	0.88927	0.0:1.0:0.0:0.0	.	72;118;118	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	I	118;118;72;118;72	ENSP00000360577:M118I;ENSP00000351125:M118I;ENSP00000439264:M72I;ENSP00000441962:M118I;ENSP00000445358:M72I	ENSP00000351125:M118I	M	-	3	0	ECHDC2	53146138	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	2.296000	0.43584	2.582000	0.87167	0.550000	0.68814	ATG	ECHDC2	-	pfam_Crotonase_core		0.612	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	C	NM_018281		53373550	-1	no_errors	ENST00000371522	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53373550	C	T	53373550	3	4	114	1	0	0	0	0	1	0	0	0	4904	826	29	1	455	1	ECHDC2	1	53373550	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	15340988	53373550	195877071	5	16923										
C1orf173	127254	genome.wustl.edu	37	chr1	75038714	75038714	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctctaaaccctgttccccttCagaagctgctttgtctgtct	6	14	4	1	rs149957800	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:75038714C>T	ENST00000326665.5	-	14	2898	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		894	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTTCCCCTTCAGAAGCTGCT	0.507													c|||	8	0.00159744	0	0	5008	,	,		20619	0.001		0	False		,,,				2504	0.0072																0								C	LYS/GLU	0,4406		0,0,2203	246	243	244		2680	-0.8	0	1	dbSNP_134	244	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf173	NM_001002912.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	894/1531	75038714	1,13005	2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.2680G>A	1.37:g.75038714C>T	ENSP00000322609:p.Glu894Lys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E894K	ENST00000326665.5	37	c.2680	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609551	0.46527	0.0	1.16E-4	ENSG00000178965	ENST00000326665	T	0.15139	2.45	5.37	-0.783	0.10958	.	.	.	.	.	T	0.03695	0.0105	L	0.36672	1.1	0.09310	N	1	B	0.29988	0.264	B	0.30029	0.11	T	0.43180	-0.9407	9	0.26408	T	0.33	-1.7475	5.3158	0.15854	0.0:0.2835:0.4129:0.3036	.	894	Q5RHP9	CA173_HUMAN	K	894	ENSP00000322609:E894K	ENSP00000322609:E894K	E	-	1	0	C1orf173	74811302	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.017000	0.13399	0.245000	0.21373	0.563000	0.77884	GAA	C1orf173	-	NULL		0.507	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75038714	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75038714	C	T	75038714	3	4	114	1	0	0	0	0	1	0	0	0	2019	835	29	1	1916	1	C1orf173	1	75038714	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	21665164	75038714	174211907	6	16924										
ELTD1	64123	genome.wustl.edu	37	chr1	79412053	79412053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caataataacttccttctgtGttagtgcaattagcattttc	5	8	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:79412053G>A	ENST00000370742.3	-	3	294	c.231C>T	c.(229-231)aaC>aaT	p.N77N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	77	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCCTTCTGTGTTAGTGCAAT	0.343																																																	0													86	81	82					1																	79412053		1888	4120	6008	SO:0001819	synonymous_variant	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.231C>T	1.37:g.79412053G>A			B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N77	ENST00000370742.3	37	c.231	CCDS41352.1	1																																																																																			ELTD1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	G	NM_022159		79412053	-1	no_errors	ENST00000370742	ensembl	human	known	70_37	silent	SNP	0.990	A	A	79412053	G	A	79412053	2	1	114	1	0	0	0	0	0	0	0	1	5096	1368	48	4		4	ELTD1	1	79412053	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	4373339	79412053	169838568	7	16925										
COL11A1	1301	genome.wustl.edu	37	chr1	103343636	103343636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tctgattctgatcaccaaagTcattgatcatgacatcaaca	5	10	6	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:103343636T>G	ENST00000370096.3	-	67	5672	c.5360A>C	c.(5359-5361)gAc>gCc	p.D1787A	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1748A|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1799A|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1671A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1787	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCACCAAAGTCATTGATCAT	0.323																																																	0													106	101	103					1																	103343636		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5360A>C	1.37:g.103343636T>G	ENSP00000359114:p.Asp1787Ala		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.D1799A	ENST00000370096.3	37	c.5396	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868397	0.72065	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.36	5.36	0.76844	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.998;0.997	D	0.94440	0.7657	10	0.87932	D	0	.	15.5299	0.75952	0.0:0.0:0.0:1.0	.	1671;1748;1799;1787;1007	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1787;1799;1748;1007;1671	ENSP00000359114:D1787A;ENSP00000351163:D1799A;ENSP00000302551:D1748A;ENSP00000426533:D1671A	ENSP00000302551:D1748A	D	-	2	0	COL11A1	103116224	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.820000	0.86633	2.254000	0.74563	0.459000	0.35465	GAC	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	T	NM_080630		103343636	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103343636	T	G	103343636	3	3	114	1	0	0	0	0	1	0	0	0	3672	1667	58	5	64	5	COL11A1	1	103343636	Missense_Mutation	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	23931583	103343636	145906985	8	16926										
MYBPHL	343263	genome.wustl.edu	37	chr1	109839731	109839731	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aagtgctgtattccccgtatCttggggcggtgtccattcca	11	11	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:109839731C>G	ENST00000357155.1	-	4	560	c.511G>C	c.(511-513)Gat>Cat	p.D171H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TTCCCCGTATCTTGGGGCGGT	0.577																																																	0													165	165	165					1																	109839731		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.511G>C	1.37:g.109839731C>G	ENSP00000349678:p.Asp171His		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D171H	ENST00000357155.1	37	c.511	CCDS30793.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113826	0.77210	.	.	ENSG00000221986	ENST00000357155	D	0.89415	-2.51	3.94	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94023	0.8085	M	0.87827	2.91	0.58432	D	0.999997	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.968	D	0.94211	0.7459	9	0.62326	D	0.03	.	14.2886	0.66263	0.0:1.0:0.0:0.0	.	148;171	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	171	ENSP00000349678:D171H	ENSP00000349678:D171H	D	-	1	0	MYBPHL	109641254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.217000	0.77982	2.507000	0.84556	0.561000	0.74099	GAT	MYBPHL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	HGNC	protein_coding	OTTHUMT00000033197.1	C	NM_001010985		109839731	-1	no_errors	ENST00000357155	ensembl	human	known	70_37	missense	SNP	1.000	G	G	109839731	C	G	109839731	3	3	114	1	0	0	0	0	1	0	0	0	10038	913	32	1	573	1	MYBPHL	1	109839731	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	6496095	109839731	139410890	9	16927										
SLC6A17	388662	genome.wustl.edu	37	chr1	110734758	110734758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tccttcatcaacttcttcacGtcagtgttggccaccctcgt	6	15	5	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:110734758G>A	ENST00000331565.4	+	7	1514	c.1029G>A	c.(1027-1029)acG>acA	p.T343T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	343					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.T343T(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTTCTTCACGTCAGTGTTGG	0.537																																																	1	Substitution - coding silent(1)	large_intestine(1)											192	136	155					1																	110734758		2203	4300	6503	SO:0001819	synonymous_variant	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1029G>A	1.37:g.110734758G>A			A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T343	ENST00000331565.4	37	c.1029	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.537	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	G	XM_371280		110734758	1	no_errors	ENST00000331565	ensembl	human	known	70_37	silent	SNP	1.000	A	A	110734758	G	A	110734758	2	1	114	1	0	0	0	0	0	0	0	1	14710	1132	40	2		2	SLC6A17	1	110734758	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	895027	110734758	138515863	10	16928										
CTSS	1520	genome.wustl.edu	37	chr1	150727516	150727516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	acacaccctttctctctccaGtccacagaatcaggcaatat	4	15	3	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:150727516G>T	ENST00000368985.3	-	4	620	c.360C>A	c.(358-360)gaC>gaA	p.D120E	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	120					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCTCTCCAGTCCACAGAAT	0.428																																																	0													214	206	209					1																	150727516		2203	4300	6503	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.360C>A	1.37:g.150727516G>T	ENSP00000357981:p.Asp120Glu		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.D120E	ENST00000368985.3	37	c.360	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018006	0.93404	.	.	ENSG00000163131	ENST00000368985	T	0.50277	0.75	5.47	4.55	0.56014	Peptidase C1A, papain C-terminal (2);	0.084489	0.85682	D	0.000000	T	0.79311	0.4424	H	0.99811	4.8	0.80722	D	1	D	0.63046	0.992	D	0.69142	0.962	D	0.86923	0.2068	10	0.87932	D	0	.	12.4012	0.55414	0.0821:0.0:0.9179:0.0	.	120	P25774	CATS_HUMAN	E	120	ENSP00000357981:D120E	ENSP00000357981:D120E	D	-	3	2	CTSS	148994140	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.605000	0.61119	2.573000	0.86826	0.591000	0.81541	GAC	CTSS	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	G	NM_004079		150727516	-1	no_errors	ENST00000368985	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150727516	G	T	150727516	3	4	114	1	0	0	0	0	1	0	0	0	4046	1020	36	4	655	4	CTSS	1	150727516	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	39992758	150727516	98523105	11	16929										
SELENBP1	8991	genome.wustl.edu	37	chr1	151337064	151337064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcgcccccagggtagcggagCtcatgggcaagggctgggcc	17	13	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:151337064C>A	ENST00000368868.5	-	12	1465	c.1374G>T	c.(1372-1374)gaG>gaT	p.E458D	SELENBP1_ENST00000426705.2_Missense_Mutation_p.E500D|SELENBP1_ENST00000447402.3_Missense_Mutation_p.E396D|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.E394D	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	458					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.E458E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTAGCGGAGCTCATGGGCAA	0.567																																																	1	Substitution - coding silent(1)	lung(1)											115	118	117					1																	151337064		2203	4300	6503	SO:0001583	missense	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1374G>T	1.37:g.151337064C>A	ENSP00000357861:p.Glu458Asp		A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	pfam_Se-bd	p.E458D	ENST00000368868.5	37	c.1374	CCDS995.1	1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638951	0.47153	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.86	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	M	0.89601	3.045	0.80722	D	1	D;B;D;B	0.76494	0.997;0.329;0.999;0.175	D;B;D;B	0.79108	0.992;0.246;0.988;0.246	T	0.71948	-0.4438	9	0.44086	T	0.13	-30.5397	7.242	0.26102	0.0:0.6996:0.1383:0.1621	.	396;311;394;458	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	D	458;396;394	.	ENSP00000357861:E458D	E	-	3	2	SELENBP1	149603688	0.972000	0.33761	0.994000	0.49952	0.853000	0.48598	1.206000	0.32321	0.462000	0.27095	-0.355000	0.07637	GAG	SELENBP1	-	pfam_Se-bd		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELENBP1	HGNC	protein_coding	OTTHUMT00000034904.4	C			151337064	-1	no_errors	ENST00000368868	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151337064	C	A	151337064	3	1	114	1	0	0	0	0	1	0	0	0	14044	796	28	4	48	4	SELENBP1	1	151337064	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	609548	151337064	97913557	12	16930										
CREB3L4	148327	genome.wustl.edu	37	chr1	153941559	153941559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cccccagggcaaccagttctCctatgctctatgaggttgtc	9	14	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:153941559C>T	ENST00000368607.3	+	3	594	c.328C>T	c.(328-330)Cct>Tct	p.P110S	SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368601.1_Missense_Mutation_p.P110S|CREB3L4_ENST00000368603.1_Missense_Mutation_p.P110S|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368600.3_Missense_Mutation_p.P90S|CREB3L4_ENST00000271889.4_Missense_Mutation_p.P110S	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	110					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AACCAGTTCTCCTATGCTCTA	0.577																																																	0													96	100	98					1																	153941559		2203	4300	6503	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.328C>T	1.37:g.153941559C>T	ENSP00000357596:p.Pro110Ser		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.P110S	ENST00000368607.3	37	c.328	CCDS1056.1	1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107684	0.56291	.	.	ENSG00000143578	ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.64997	1.995	0.80722	D	1	D;P;D	0.89917	0.998;0.901;1.0	D;P;D	0.85130	0.966;0.536;0.997	T	0.39860	-0.9593	9	.	.	.	.	15.8247	0.78690	0.0:1.0:0.0:0.0	.	110;90;110	B4E2G3;Q5T4L0;Q8TEY5	.;.;CR3L4_HUMAN	S	90;110;110;110;110;90;110	ENSP00000391847:P90S;ENSP00000357596:P110S;ENSP00000271889:P110S;ENSP00000357590:P110S;ENSP00000357592:P110S;ENSP00000357589:P90S;ENSP00000402308:P110S	.	P	+	1	0	CREB3L4	152208183	0.730000	0.28100	1.000000	0.80357	0.283000	0.27025	3.308000	0.51896	2.666000	0.90696	0.561000	0.74099	CCT	CREB3L4	-	NULL		0.577	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	C	NM_130898		153941559	1	no_errors	ENST00000271889	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153941559	C	T	153941559	3	4	114	1	0	0	0	0	1	0	0	0	3864	855	30	1	334	1	CREB3L4	1	153941559	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	2604495	153941559	95309062	13	16931										
TPR	7175	genome.wustl.edu	37	chr1	186342529	186342529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gccgcaagctttgacactctCgggtttcattcacaagtctc	8	13	4	1	rs545486315		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:186342529C>T	ENST00000367478.4	-	2	514	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TPR_ENST00000474852.1_5'UTR|C1orf27_ENST00000367470.3_5'Flank|C1orf27_ENST00000419367.3_5'Flank|C1orf27_ENST00000287859.6_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	73	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGACACTCTCGGGTTTCATT	0.373			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													97	91	93					1																	186342529		1822	4082	5904	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.218G>A	1.37:g.186342529C>T	ENSP00000356448:p.Arg73Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R73Q	ENST00000367478.4	37	c.218	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730697	0.30684	.	.	ENSG00000047410	ENST00000367478;ENST00000367472;ENST00000451586	T	0.19806	2.12	5.34	4.43	0.53597	.	0.217773	0.40728	N	0.001021	T	0.09730	0.0239	N	0.08118	0	0.30963	N	0.723465	B;B	0.16396	0.017;0.003	B;B	0.08055	0.003;0.001	T	0.07501	-1.0769	10	0.35671	T	0.21	.	6.7091	0.23266	0.0:0.6951:0.0:0.3049	.	73;73	Q15624;P12270	.;TPR_HUMAN	Q	73;149;149	ENSP00000356448:R73Q	ENSP00000356442:R149Q	R	-	2	0	TPR	184609152	0.996000	0.38824	0.954000	0.39281	0.712000	0.41017	2.878000	0.48515	1.239000	0.43787	0.555000	0.69702	CGA	TPR	-	NULL		0.373	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186342529	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	0.994	T	T	186342529	C	T	186342529	3	4	114	1	0	0	0	0	1	0	0	0	16447	884	31	1	7073	1	TPR	1	186342529	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	32400970	186342529	62908092	14	16932										
PTGS2	5743	genome.wustl.edu	37	chr1	186646909	186646909	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gggatcagggatgaactttcTtcttagaagcaatttttcca	9	7	3	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:186646909T>G	ENST00000367468.5	-	5	647	c.511A>C	c.(511-513)Aga>Cga	p.R171R	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	171					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ATGAACTTTCTTCTTAGAAGC	0.403																																																	0													100	101	100					1																	186646909		2203	4300	6503	SO:0001819	synonymous_variant	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.511A>C	1.37:g.186646909T>G			A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R171	ENST00000367468.5	37	c.511	CCDS1371.1	1																																																																																			PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.403	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	T	NM_000963		186646909	-1	no_errors	ENST00000367468	ensembl	human	known	70_37	silent	SNP	1.000	G	G	186646909	T	G	186646909	2	3	114	1	0	0	0	0	0	0	0	1	12784	1617	56	5		5	PTGS2	1	186646909	Silent	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	304380	186646909	62603712	15	16933										
OBSCN	84033	genome.wustl.edu	37	chr1	228547607	228547607	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	attgaagtccgggtgaagaaGatgggcccgcagggtgtgtc	17	7	0	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:228547607G>C	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.K6338N|OBSCN_ENST00000366709.4_Missense_Mutation_p.K3457N|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGTGAAGAAGATGGGCCCGC	0.667																																																	0													20	24	23					1																	228547607		1932	4116	6048	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2670G>C	1.37:g.228547607G>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain	p.K3457N	ENST00000422127.1	37	c.10371	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360181	0.61403	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.67171	-0.25;-0.1	4.71	1.36	0.22044	.	.	.	.	.	T	0.77445	0.4131	M	0.75264	2.295	0.09310	N	0.999997	D	0.89917	1.0	D	0.74348	0.983	T	0.63229	-0.6684	9	0.72032	D	0.01	.	7.1358	0.25527	0.503:0.0:0.497:0.0	.	6338	Q5VST9-3	.	N	6338;3457	ENSP00000284548:K6338N;ENSP00000355670:K3457N	ENSP00000284548:K6338N	K	+	3	2	OBSCN	226614230	0.066000	0.20996	0.199000	0.23439	0.086000	0.17979	0.348000	0.20031	0.498000	0.27948	0.561000	0.74099	AAG	OBSCN	-	NULL		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228547607	1	no_errors	ENST00000366709	ensembl	human	known	70_37	missense	SNP	0.043	C	C	228547607	G	C	228547607	1	2	114	0	1	0	0	0	0	0	0	0	10836	933	33	1		1	OBSCN	1	228547607	Intron	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	41900698	228547607	20703014	16	16934										
CAPN9	10753	genome.wustl.edu	37	chr1	230921753	230921753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggatggaaatgtagacattgAccttcctgaggtgagtcttc	12	7	1	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr1:230921753A>C	ENST00000271971.2	+	12	1621	c.1508A>C	c.(1507-1509)gAc>gCc	p.D503A	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.D440A|CAPN9_ENST00000354537.1_Missense_Mutation_p.D477A|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	503	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTAGACATTGACCTTCCTGAG	0.458																																																	0													470	462	465					1																	230921753		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1508A>C	1.37:g.230921753A>C	ENSP00000271971:p.Asp503Ala		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D503A	ENST00000271971.2	37	c.1508	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.643979	0.29246	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.87256	-2.19;-2.23;-2.23	5.58	4.4	0.53042	.	0.327917	0.34828	N	0.003643	D	0.83216	0.5206	L	0.49699	1.58	0.51767	D	0.99993	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.81234	-0.1025	10	0.56958	D	0.05	.	12.7012	0.57034	0.8533:0.1467:0.0:0.0	.	440;477;503	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	A	503;477;440	ENSP00000271971:D503A;ENSP00000346538:D477A;ENSP00000355626:D440A	ENSP00000271971:D503A	D	+	2	0	CAPN9	228988376	1.000000	0.71417	0.915000	0.36163	0.597000	0.36814	4.011000	0.57124	2.112000	0.64535	0.533000	0.62120	GAC	CAPN9	-	NULL		0.458	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	A	NM_006615		230921753	1	no_errors	ENST00000271971	ensembl	human	known	70_37	missense	SNP	0.933	C	C	230921753	A	C	230921753	3	2	114	1	0	0	0	0	1	0	0	0	2637	275	10	5	1554	5	CAPN9	1	230921753	Missense_Mutation	SNP	A	TCGA-EK-A2RN-01A-12D-A20U-09	2374146	230921753	18328868	17	16935										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125232323	125232323	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ttcaccccaaaagcttagttTtggaggaattccagtaccag	8	10	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:125232323T>G	ENST00000431078.1	+	7	1290	c.926T>G	c.(925-927)tTt>tGt	p.F309C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	309	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGCTTAGTTTTGGAGGAATT	0.353																																																	0													29	27	27					2																	125232323		1797	4062	5859	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.926T>G	2.37:g.125232323T>G	ENSP00000399013:p.Phe309Cys		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F309C	ENST00000431078.1	37	c.926	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069443	0.76301	.	.	ENSG00000155052	ENST00000431078	T	0.80653	-1.4	5.97	5.97	0.96955	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000085	D	0.91492	0.7314	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93042	0.6458	10	0.87932	D	0	.	15.6255	0.76851	0.0:0.0:0.0:1.0	.	309	Q8WYK1	CNTP5_HUMAN	C	309	ENSP00000399013:F309C	ENSP00000399013:F309C	F	+	2	0	CNTNAP5	124948793	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.504000	0.81646	2.277000	0.76020	0.482000	0.46254	TTT	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.353	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	T			125232323	1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125232323	T	G	125232323	3	3	114	1	0	0	0	0	1	0	0	0	3655	1841	64	5	952	5	CNTNAP5	2	125232323	Missense_Mutation	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09		125232323	117967050	18	16936										
UGGT1	56886	genome.wustl.edu	37	chr2	128903520	128903520	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atcctggagaccaccaccttCttccaaagagcggtgtactt	8	13	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:128903520C>T	ENST00000259253.6	+	18	2042	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	UGGT1_ENST00000375990.3_Silent_p.F641F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	665					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCACCACCTTCTTCCAAAGAG	0.423																																																	0													102	96	98					2																	128903520		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1995C>T	2.37:g.128903520C>T			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.F665	ENST00000259253.6	37	c.1995	CCDS2154.1	2																																																																																			UGGT1	-	NULL		0.423	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	C	NM_020120		128903520	1	no_errors	ENST00000259253	ensembl	human	known	70_37	silent	SNP	0.997	T	T	128903520	C	T	128903520	2	4	114	1	0	0	0	0	0	0	0	1	16972	912	32	1		1	UGGT1	2	128903520	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	3671197	128903520	114295853	19	16937										
PRPF40A	55660	genome.wustl.edu	37	chr2	153526757	153526757	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	attcttactttgtaactcctCatcttctgcaaaagttggat	5	9	4	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:153526757C>T	ENST00000410080.1	-	15	2159	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	567	FF 3.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGTAACTCCTCATCTTCTGCA	0.348																																																	0													109	98	102					2																	153526757		1855	4118	5973	SO:0001583	missense	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1618G>A	2.37:g.153526757C>T	ENSP00000386458:p.Glu540Lys		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP	p.E540K	ENST00000410080.1	37	c.1618	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.109104	0.94292	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.26660	1.72	5.24	5.24	0.73138	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.43923	1.385	0.80722	D	1	D;P	0.69078	0.997;0.891	D;P	0.79108	0.992;0.81	T	0.07481	-1.0770	10	0.26408	T	0.33	-17.127	19.1932	0.93675	0.0:1.0:0.0:0.0	.	567;540	O75400;E9PFS0	PR40A_HUMAN;.	K	540;549;436;487	ENSP00000386458:E540K	ENSP00000348770:E549K	E	-	1	0	PRPF40A	153235003	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	2.603000	0.88011	0.555000	0.69702	GAG	PRPF40A	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.348	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	C	XM_371575		153526757	-1	no_errors	ENST00000410080	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153526757	C	T	153526757	3	4	114	1	0	0	0	0	1	0	0	0	12598	835	29	1	1222	1	PRPF40A	2	153526757	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	24623237	153526757	89672616	20	16938										
SCN1A	6323	genome.wustl.edu	37	chr2	166894582	166894582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagagcccccacggaattgcCgatgatctttattagcatat	8	11	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:166894582C>T	ENST00000303395.4	-	15	2649	c.2650G>A	c.(2650-2652)Ggc>Agc	p.G884S	SCN1A_ENST00000375405.3_Missense_Mutation_p.G873S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G856S|SCN1A_ENST00000423058.2_Missense_Mutation_p.G884S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	884					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGGAATTGCCGATGATCTTT	0.403																																																	0													61	63	62					2																	166894582		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2650G>A	2.37:g.166894582C>T	ENSP00000303540:p.Gly884Ser		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.G884S	ENST00000303395.4	37	c.2650	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634952	0.87760	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98902	0.9628	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.91635	0.999;0.999;0.745	D	0.99905	1.1175	10	0.87932	D	0	.	18.5005	0.90879	0.0:1.0:0.0:0.0	.	873;856;884	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	884;884;873;856	ENSP00000407030:G884S;ENSP00000303540:G884S;ENSP00000364554:G873S;ENSP00000386312:G856S	ENSP00000303540:G884S	G	-	1	0	SCN1A	166602828	1.000000	0.71417	0.992000	0.48379	0.583000	0.36354	7.726000	0.84824	2.437000	0.82529	0.591000	0.81541	GGC	SCN1A	-	pfam_Ion_trans_dom		0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	C	NM_006920		166894582	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	missense	SNP	1.000	T	T	166894582	C	T	166894582	3	4	114	1	0	0	0	0	1	0	0	0	13944	652	23	2	3427	2	SCN1A	2	166894582	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	13367825	166894582	76304791	21	16939										
TTN	7273	genome.wustl.edu	37	chr2	179486033	179486033	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgatatagagcagacaaattCagccttttctccttcaagta	6	9	3	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:179486033C>T	ENST00000591111.1	-	196	40713	c.40489G>A	c.(40489-40491)Gaa>Aaa	p.E13497K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6265K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12570K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6073K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6198K|TTN_ENST00000589042.1_Missense_Mutation_p.E15138K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13497	Ig-like 91.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGACAAATTCAGCCTTTTCT	0.368																																																	0													108	94	99					2																	179486033		1826	4074	5900	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40489G>A	2.37:g.179486033C>T	ENSP00000465570:p.Glu13497Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12570K	ENST00000591111.1	37	c.37708		2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784311	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47619	0.1455	L	0.43554	1.36	0.45354	D	0.998347	P;P;P;P	0.45176	0.852;0.852;0.852;0.852	P;P;P;P	0.45712	0.491;0.491;0.491;0.491	T	0.42344	-0.9457	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	6073;6198;6265;13497	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12570;6073;6265;6198;6073	ENSP00000343764:E12570K;ENSP00000434586:E6073K;ENSP00000340554:E6265K;ENSP00000352154:E6198K	ENSP00000340554:E6265K	E	-	1	0	TTN	179194278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.755000	0.62198	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486033	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179486033	C	T	179486033	3	4	114	1	0	0	0	0	1	0	0	0	16766	835	29	1	62749	1	TTN	2	179486033	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	12591451	179486033	63713340	22	16940										
EEF1B2	1933	genome.wustl.edu	37	chr2	207027539	207027539	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aagttggaacagatatgctgGaggagcagatcactgctttt	12	6	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:207027539G>C	ENST00000392222.2	+	6	985	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.E204Q|EEF1B2_ENST00000236957.5_Missense_Mutation_p.E204Q|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	204					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGATATGCTGGAGGAGCAGAT	0.383																																																	0													52	53	52					2																	207027539		2200	4281	6481	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.610G>C	2.37:g.207027539G>C	ENSP00000376056:p.Glu204Gln		A8K795|Q6IBH9	Missense_Mutation	SNP	pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu	p.E204Q	ENST00000392222.2	37	c.610	CCDS2367.1	2	.	.	.	.	.	.	.	.	.	.	G	7.583	0.669048	0.14776	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	5.2	5.2	0.72013	Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.35793	1.09	0.80722	D	1	B	0.12630	0.006	B	0.21546	0.035	T	0.50491	-0.8822	9	0.05436	T	0.98	-32.4891	18.7341	0.91748	0.0:0.0:1.0:0.0	.	204	P24534	EF1B_HUMAN	Q	204	.	ENSP00000236957:E204Q	E	+	1	0	EEF1B2	206735784	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.869000	0.99810	2.435000	0.82474	0.655000	0.94253	GAG	EEF1B2	-	pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu		0.383	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EEF1B2	HGNC	protein_coding	OTTHUMT00000336436.1	G	NM_001037663		207027539	1	no_errors	ENST00000236957	ensembl	human	known	70_37	missense	SNP	1.000	C	C	207027539	G	C	207027539	3	2	114	1	0	0	0	0	1	0	0	0	4935	1175	41	1	632	1	EEF1B2	2	207027539	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	27541506	207027539	36171834	23	16941										
SPP2	6694	genome.wustl.edu	37	chr2	234975918	234975918	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aattttatgatcggtcacttGgtaagtgatttctttcctgc	8	7	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:234975918G>T	ENST00000168148.3	+	6	638	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	SPP2_ENST00000373368.1_Splice_Site_p.G184W	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	184					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TCGGTCACTTGGTAAGTGATT	0.403																																																	0													173	164	167					2																	234975918		2203	4300	6503	SO:0001630	splice_region_variant	6694				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.550+1G>T	2.37:g.234975918G>T			A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.G184W	ENST00000168148.3	37	c.550	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958243	0.53400	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.50548	0.74;0.74	3.3	3.3	0.37823	.	0.716634	0.12602	N	0.454635	T	0.33265	0.0857	N	0.08118	0	0.26683	N	0.971508	P	0.38922	0.651	B	0.43575	0.424	T	0.21861	-1.0233	10	0.72032	D	0.01	-5.3665	10.3966	0.44205	0.0:0.0:1.0:0.0	.	184	Q13103	SPP24_HUMAN	W	184;184;104	ENSP00000362466:G184W;ENSP00000168148:G184W	ENSP00000168148:G184W	G	+	1	0	SPP2	234640657	0.996000	0.38824	0.899000	0.35326	0.275000	0.26752	3.794000	0.55492	2.161000	0.67846	0.543000	0.68304	GGG	SPP2	-	pfam_Spp-24		0.403	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	G	NM_006944	Missense_Mutation	234975918	1	no_errors	ENST00000168148	ensembl	human	known	70_37	missense	SNP	0.898	T	T	234975918	G	T	234975918	5	4	114	1	0	0	0	0	0	0	1	0	15117	1362	47	4	572	4	SPP2	2	234975918	Splice_Site	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	27948379	234975918	8223455	24	16942										
ILKAP	80895	genome.wustl.edu	37	chr2	239103498	239103498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcaaagagcaggggtcctttCtgagcttctttccctaaaac	8	11	3	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr2:239103498C>T	ENST00000254654.3	-	2	244	c.69G>A	c.(67-69)caG>caA	p.Q23Q	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	23					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GGGGTCCTTTCTGAGCTTCTT	0.498																																																	0													107	105	106					2																	239103498		2203	4300	6503	SO:0001819	synonymous_variant	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.69G>A	2.37:g.239103498C>T			B3KM39	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.Q23	ENST00000254654.3	37	c.69	CCDS2526.1	2																																																																																			ILKAP	-	NULL		0.498	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	C	NM_030768		239103498	-1	no_errors	ENST00000254654	ensembl	human	known	70_37	silent	SNP	0.958	T	T	239103498	C	T	239103498	2	4	114	1	0	0	0	0	0	0	0	1	7734	912	32	1		1	ILKAP	2	239103498	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	4127580	239103498	4095875	25	16943										
CRBN	51185	genome.wustl.edu	37	chr3	3215804	3215804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	attccgcaccatactgacttCttgagggtgaaaaagctgaa	9	9	1	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:3215804C>T	ENST00000231948.4	-	3	338	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CRBN_ENST00000432408.2_Missense_Mutation_p.E105K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	106	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)	p.E106*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATACTGACTTCTTGAGGGTGA	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											97	99	98					3																	3215804		2203	4300	6503	SO:0001583	missense	51185			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.316G>A	3.37:g.3215804C>T	ENSP00000231948:p.Glu106Lys		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	p.E106K	ENST00000231948.4	37	c.316	CCDS2562.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.210870	0.95069	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.41758	0.99;0.99	5.75	5.75	0.90469	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.50333	1.59	0.80722	D	1	P;D;D	0.69078	0.949;0.996;0.997	P;D;D	0.79108	0.596;0.987;0.992	T	0.50466	-0.8825	10	0.27082	T	0.32	-30.7803	19.9479	0.97190	0.0:1.0:0.0:0.0	.	43;105;106	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	K	106;105;43	ENSP00000231948:E106K;ENSP00000412499:E105K	ENSP00000231948:E106K	E	-	1	0	CRBN	3190804	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	5.913000	0.69957	2.704000	0.92352	0.650000	0.86243	GAA	CRBN	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.418	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRBN	HGNC	protein_coding	OTTHUMT00000206579.3	C	NM_016302		3215804	-1	no_errors	ENST00000231948	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3215804	C	T	3215804	3	4	114	1	0	0	0	0	1	0	0	0	3856	922	32	1	1048	1	CRBN	3	3215804	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		3215804	194806626	26	16944										
GRIP2	80852	genome.wustl.edu	37	chr3	14548392	14548392	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgggcacagccggcgagaagCgggctgctggcaggcctcct	17	13	0	1	rs374577398		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657																																																	0								C	HIS/ARG	0,4036		0,0,2018	17	22	20		2605	2.7	0.1	3		20	1,8333		0,1,4166	no	missense	GRIP2	NM_001080423.2	29	0,1,6184	TT,TC,CC		0.012,0.0,0.0081	benign	869/1141	14548392	1,12369	2018	4167	6185			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548392C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.657	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14548392	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.940	T	T	14548392	C	T	14548392	1	4	114	0	1	0	0	0	0	0	0	0	6808	768	27	2		2	GRIP2	3	14548392	RNA	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	11332588	14548392	183474038	27	16945										
LIMD1	8994	genome.wustl.edu	37	chr3	45637138	45637138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tggcattggtggccgcagcaGcgagaagccaacaggccttt	14	11	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:45637138G>A	ENST00000273317.4	+	1	788	c.767G>A	c.(766-768)aGc>aAc	p.S256N	LIMD1_ENST00000440097.1_Missense_Mutation_p.S256N|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	256	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGCCGCAGCAGCGAGAAGCCA	0.627																																																	0													58	64	62					3																	45637138		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.767G>A	3.37:g.45637138G>A	ENSP00000273317:p.Ser256Asn		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S256N	ENST00000273317.4	37	c.767	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736131	0.15574	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58797	0.31;0.52	4.83	-4.69	0.03299	.	2.796360	0.00721	N	0.000892	T	0.32071	0.0817	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05178	-1.0901	10	0.31617	T	0.26	.	0.2269	0.00175	0.3402:0.2286:0.2014:0.2298	.	256	Q9UGP4	LIMD1_HUMAN	N	256	ENSP00000394537:S256N;ENSP00000273317:S256N	ENSP00000273317:S256N	S	+	2	0	LIMD1	45612142	0.000000	0.05858	0.000000	0.03702	0.434000	0.31775	-0.345000	0.07770	-0.841000	0.04200	-0.268000	0.10319	AGC	LIMD1	-	NULL		0.627	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	G	NM_014240		45637138	1	no_errors	ENST00000273317	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45637138	G	A	45637138	3	1	114	1	0	0	0	0	1	0	0	0	8818	971	34	4	769	4	LIMD1	3	45637138	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	31088746	45637138	152385292	28	16946										
CDHR4	389118	genome.wustl.edu	37	chr3	49831402	49831402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gcacaggctggggagaactcGttgatgggtgtcaccatcac	14	10	2	2	rs113873087		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:49831402G>A	ENST00000412678.2	-	11	1325	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	439	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGGAGAACTCGTTGATGGGTG	0.607																																																	0													62	61	61					3																	49831402		692	1591	2283	SO:0001819	synonymous_variant	389118				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1317C>T	3.37:g.49831402G>A			Q6UXT0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N439	ENST00000412678.2	37	c.1317	CCDS46829.1	3																																																																																			CDHR4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.607	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	G	NM_001007540		49831402	-1	no_errors	ENST00000412678	ensembl	human	known	70_37	silent	SNP	0.911	A	A	49831402	G	A	49831402	2	1	114	1	0	0	0	0	0	0	0	1	3126	1136	40	2		2	CDHR4	3	49831402	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	4194264	49831402	148191028	29	16947										
HCLS1	3059	genome.wustl.edu	37	chr3	121376126	121376126	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccagtcctttcggcacctacTtgatgtgttctgtgcgtcca	9	13	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:121376126T>G	ENST00000314583.3	-	3	249	c.158A>C	c.(157-159)aAc>aCc	p.N53T	RNU4-62P_ENST00000410125.1_RNA|RN7SL172P_ENST00000460535.2_RNA|HCLS1_ENST00000428394.2_Splice_Site_p.N53T	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	53	Involved in HAX-1 binding.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CGGCACCTACTTGATGTGTTC	0.517																																																	0													256	234	241					3																	121376126		2203	4300	6503	SO:0001630	splice_region_variant	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.158+1A>C	3.37:g.121376126T>G			B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.N53T	ENST00000314583.3	37	c.158	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094165	0.56075	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20069	2.1;2.11	4.98	4.98	0.66077	.	0.136223	0.64402	D	0.000002	T	0.27866	0.0686	M	0.77820	2.39	0.45676	D	0.998598	B;P;P	0.41597	0.399;0.675;0.756	B;B;B	0.38842	0.15;0.19;0.283	T	0.16364	-1.0405	10	0.87932	D	0	-22.8129	12.6637	0.56828	0.0:0.0:0.0:1.0	.	53;53;53	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	T	53	ENSP00000320176:N53T;ENSP00000387645:N53T	ENSP00000320176:N53T	N	-	2	0	HCLS1	122858816	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.524000	0.45589	2.081000	0.62600	0.533000	0.62120	AAC	HCLS1	-	NULL		0.517	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	HGNC	protein_coding	OTTHUMT00000355144.1	T	NM_005335	Missense_Mutation	121376126	-1	no_errors	ENST00000314583	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121376126	T	G	121376126	5	3	114	1	0	0	0	0	0	0	1	0	7015	1623	56	5	1350	5	HCLS1	3	121376126	Splice_Site	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	71544724	121376126	76646304	30	16948										
DNAJC13	23317	genome.wustl.edu	37	chr3	132245079	132245079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgttggtctagcctgtgaagCaattaatcgaatgtttcaga	10	6	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:132245079C>T	ENST00000260818.6	+	53	6583	c.6335C>T	c.(6334-6336)gCa>gTa	p.A2112V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2112					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCCTGTGAAGCAATTAATCGA	0.408																																																	0													115	110	112					3																	132245079		2203	4300	6503	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6335C>T	3.37:g.132245079C>T	ENSP00000260818:p.Ala2112Val		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.A2112V	ENST00000260818.6	37	c.6335	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977107	0.74360	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.56611	0.45	5.58	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.72894	2.215	0.58432	D	0.999993	B	0.29188	0.236	B	0.26416	0.069	T	0.56486	-0.7971	10	0.56958	D	0.05	.	14.5672	0.68185	0.0:0.9298:0.0:0.0702	.	2112	O75165	DJC13_HUMAN	V	2112;759	ENSP00000260818:A2112V	ENSP00000260818:A2112V	A	+	2	0	DNAJC13	133727769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.897000	0.69831	1.501000	0.48654	0.591000	0.81541	GCA	DNAJC13	-	superfamily_ARM-type_fold		0.408	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	C	NM_015268		132245079	1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132245079	C	T	132245079	3	4	114	1	0	0	0	0	1	0	0	0	4642	710	25	4	6541	4	DNAJC13	3	132245079	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	10868953	132245079	65777351	31	16949										
VEPH1	79674	genome.wustl.edu	37	chr3	157213060	157213060	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgtaaggctgtcttcaatctCagagtcatctaaggagaaga	10	7	5	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:157213060C>T	ENST00000362010.2	-	2	386	c.79G>A	c.(79-81)Gag>Aag	p.E27K	VEPH1_ENST00000494677.1_Missense_Mutation_p.E27K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E27K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E27K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E27K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E27K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E27K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	27						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTTCAATCTCAGAGTCATCT	0.408																																																	0													119	122	121					3																	157213060		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.79G>A	3.37:g.157213060C>T	ENSP00000354919:p.Glu27Lys		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E27K	ENST00000362010.2	37	c.79	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614607	0.87359	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T;T;T;T;T	0.32023	2.93;2.96;2.93;2.96;1.47;1.47;1.47;1.47	5.47	5.47	0.80525	.	0.049997	0.85682	D	0.000000	T	0.52549	0.1741	L	0.54323	1.7	0.80722	D	1	D;D;D	0.69078	0.997;0.972;0.996	D;P;P	0.68353	0.957;0.737;0.907	T	0.51458	-0.8703	10	0.62326	D	0.03	-27.6366	19.3422	0.94347	0.0:1.0:0.0:0.0	.	27;27;27	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	K	27	ENSP00000376578:E27K;ENSP00000354919:E27K;ENSP00000446258:E27K;ENSP00000376577:E27K;ENSP00000419193:E27K;ENSP00000443868:E27K;ENSP00000417268:E27K;ENSP00000420097:E27K	ENSP00000354919:E27K	E	-	1	0	VEPH1	158695754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.567000	0.86603	0.655000	0.94253	GAG	VEPH1	-	superfamily_ARM-type_fold		0.408	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	C	NM_024621		157213060	-1	no_errors	ENST00000362010	ensembl	human	known	70_37	missense	SNP	1.000	T	T	157213060	C	T	157213060	3	4	114	1	0	0	0	0	1	0	0	0	17185	835	29	1	2596	1	VEPH1	3	157213060	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	24967981	157213060	40809370	32	16950										
SLC7A14	57709	genome.wustl.edu	37	chr3	170204044	170204044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtcaggcagatgaccagggaGgcagtgatagcataagggat	16	6	1	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:170204044G>A	ENST00000231706.5	-	5	1188	c.873C>T	c.(871-873)gcC>gcT	p.A291A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	291					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGACCAGGGAGGCAGTGATAG	0.537																																																	0													310	225	254					3																	170204044		2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.873C>T	3.37:g.170204044G>A			B3KV33|Q9HCF9	Silent	SNP	pfam_AA-permease_dom	p.A291	ENST00000231706.5	37	c.873	CCDS33892.1	3																																																																																			SLC7A14	-	pfam_AA-permease_dom		0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	G	NM_020949		170204044	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	silent	SNP	1.000	A	A	170204044	G	A	170204044	2	1	114	1	0	0	0	0	0	0	0	1	14726	987	35	4		4	SLC7A14	3	170204044	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	12990984	170204044	27818386	33	16951										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	114	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	8732047	178936091	19086339	34	16952										
PIK3CA	5290	genome.wustl.edu	37	chr3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcaaacaggagaagaaggatGaaacacaaaaggtgtgtgac	12	5	1	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89	78	82					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178938934	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178938934	G	A	178938934	3	1	114	1	0	0	0	0	1	0	0	0	11937	1291	45	1	2226	1	PIK3CA	3	178938934	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2843	178938934	19083496	35	16953										
TRA2B	6434	genome.wustl.edu	37	chr3	185643310	185643310	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aatggctgtggctgtgccgtCtacgataatctcgactgtaa	11	9	2	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:185643310C>T	ENST00000453386.2	-	3	550	c.275G>A	c.(274-276)aGa>aAa	p.R92K	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	92	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GCTGTGCCGTCTACGATAATC	0.512																																																	0													126	111	116					3																	185643310		2203	4300	6503	SO:0001583	missense	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.275G>A	3.37:g.185643310C>T	ENSP00000416959:p.Arg92Lys		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R92K	ENST00000453386.2	37	c.275	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.076769	0.94000	.	.	ENSG00000136527	ENST00000453386	T	0.23950	1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.75777	2.31	0.80722	D	1	P;P	0.38711	0.643;0.643	P;P	0.54210	0.745;0.745	T	0.18524	-1.0334	10	0.41790	T	0.15	-6.7128	19.6509	0.95805	0.0:1.0:0.0:0.0	.	92;92	B2RDQ3;P62995	.;TRA2B_HUMAN	K	92	ENSP00000416959:R92K	ENSP00000416959:R92K	R	-	2	0	TRA2B	187126004	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	AGA	TRA2B	-	NULL		0.512	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	C	NM_004593		185643310	-1	no_errors	ENST00000453386	ensembl	human	known	70_37	missense	SNP	1.000	T	T	185643310	C	T	185643310	3	4	114	1	0	0	0	0	1	0	0	0	16465	913	32	1	619	1	TRA2B	3	185643310	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	6704376	185643310	12379120	36	16954										
MASP1	5648	genome.wustl.edu	37	chr3	186978566	186978566	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tctgtgtggaggatgtagccGaagcggcaggagcagtagta	17	6	1	0	rs553549384	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr3:186978566G>A	ENST00000337774.5	-	4	899	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MASP1_ENST00000169293.6_Silent_p.F170F|MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	170	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGATGTAGCCGAAGCGGCAGG	0.527													G|||	5	0.000998403	0	0	5008	,	,		18092	0		0	False		,,,				2504	0.0051																0													148	109	123					3																	186978566		2203	4300	6503	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.510C>T	3.37:g.186978566G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F170	ENST00000337774.5	37	c.510	CCDS33907.1	3																																																																																			MASP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd		0.527	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	G	NM_001879		186978566	-1	no_errors	ENST00000296280	ensembl	human	known	70_37	silent	SNP	0.986	A	A	186978566	G	A	186978566	2	1	114	1	0	0	0	0	0	0	0	1	9345	1049	37	1		1	MASP1	3	186978566	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	1335256	186978566	11043864	37	16955										
GPR78	27201	genome.wustl.edu	37	chr4	8583012	8583012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctgagcgtggcggcgctgagCgcagaccagtggctggcagt	18	11	0	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:8583012C>T	ENST00000382487.4	+	1	720	c.303C>T	c.(301-303)agC>agT	p.S101S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	101					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCGCTGAGCGCAGACCAGT	0.721																																																	0													7	9	8					4																	8583012		2156	4225	6381	SO:0001819	synonymous_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.303C>T	4.37:g.8583012C>T			Q8NGV3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S101	ENST00000382487.4	37	c.303	CCDS3403.1	4																																																																																			GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.721	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	C			8583012	1	no_errors	ENST00000382487	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8583012	C	T	8583012	2	4	114	1	0	0	0	0	0	0	0	1	6729	767	27	2		2	GPR78	4	8583012	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		8583012	182571264	38	16956										
FRAS1	80144	genome.wustl.edu	37	chr4	79188084	79188084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cctgcctgcccctgagatgcGgaaaggtatttgagagtgtg	14	9	0	2	rs576372683		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:79188084G>A	ENST00000325942.6	+	8	1224	c.784G>A	c.(784-786)Gga>Aga	p.G262R	FRAS1_ENST00000264895.6_Missense_Mutation_p.G262R|FRAS1_ENST00000264899.6_Missense_Mutation_p.G262R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	262	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGAGATGCGGAAAGGTATT	0.502													G|||	1	0.000199681	0	0	5008	,	,		20416	0		0	False		,,,				2504	0.001																0													51	48	49					4																	79188084		2000	4170	6170	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.784G>A	4.37:g.79188084G>A	ENSP00000326330:p.Gly262Arg		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.G262R	ENST00000325942.6	37	c.784	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.397|5.397	0.258412|0.258412	0.10239|0.10239	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674|ENST00000508900	T;T;T|.	0.70986|.	-0.53;-0.53;-0.53|.	5.34|5.34	2.65|2.65	0.31530|0.31530	.|.	0.687394|.	0.14174|.	N|.	0.336464|.	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.11756|0.11756	0.17|0.17	0.09310|0.09310	N|N	1|1	B;B|.	0.17852|.	0.024;0.024|.	B;B|.	0.23419|.	0.046;0.017|.	T|T	0.24799|0.24799	-1.0150|-1.0150	10|5	0.33141|.	T|.	0.24|.	.|.	7.7875|7.7875	0.29101|0.29101	0.1405:0.2491:0.6103:0.0|0.1405:0.2491:0.6103:0.0	.|.	262;262|.	E9PHH6;A2RRR8|.	.;.|.	R|Q	262|104	ENSP00000326330:G262R;ENSP00000264895:G262R;ENSP00000264899:G262R|.	ENSP00000264895:G262R|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79407108|79407108	0.971000|0.971000	0.33674|0.33674	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	2.495000|2.495000	0.45337|0.45337	0.323000|0.323000	0.23307|0.23307	-0.140000|-0.140000	0.14226|0.14226	GGA|CGG	FRAS1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C		0.502	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	G			79188084	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.147	A	A	79188084	G	A	79188084	3	1	114	1	0	0	0	0	1	0	0	0	6060	1117	39	2	814	2	FRAS1	4	79188084	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	70605072	79188084	111966192	39	16957										
ABCG2	9429	genome.wustl.edu	37	chr4	89013433	89013433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tttcaggtaggcaattgtgaGgaaaataacaatcatacaag	9	5	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:89013433G>A	ENST00000237612.3	-	16	2466	c.1921C>T	c.(1921-1923)Ctc>Ttc	p.L641F	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	641	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCAATTGTGAGGAAAATAACA	0.368																																																	0													89	85	87					4																	89013433		2203	4300	6503	SO:0001583	missense	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1921C>T	4.37:g.89013433G>A	ENSP00000237612:p.Leu641Phe		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L641F	ENST00000237612.3	37	c.1921	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116142	0.77323	.	.	ENSG00000118777	ENST00000237612	D	0.86497	-2.13	5.55	5.55	0.83447	.	0.057248	0.64402	D	0.000001	D	0.91971	0.7457	M	0.88704	2.975	0.80722	D	1	B	0.28636	0.218	B	0.40134	0.32	D	0.90585	0.4532	10	0.45353	T	0.12	-18.1443	19.1246	0.93376	0.0:0.0:1.0:0.0	.	641	Q9UNQ0	ABCG2_HUMAN	F	641	ENSP00000237612:L641F	ENSP00000237612:L641F	L	-	1	0	ABCG2	89232457	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.486000	0.73629	2.604000	0.88044	0.467000	0.42956	CTC	ABCG2	-	NULL		0.368	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	G	NM_004827		89013433	-1	no_errors	ENST00000237612	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89013433	G	A	89013433	3	1	114	1	0	0	0	0	1	0	0	0	69	1000	35	4	50	4	ABCG2	4	89013433	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	9825349	89013433	102140843	40	16958										
ADH4	127	genome.wustl.edu	37	chr4	100047843	100047843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ttgaatttcttattcttataGtcagtgaccagctttgggat	8	6	3	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:100047843G>A	ENST00000265512.7	-	8	1094	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Silent_p.D359D|ADH4_ENST00000505590.1_Silent_p.D359D|ADH4_ENST00000508393.1_Silent_p.D359D	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	340					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TATTCTTATAGTCAGTGACCA	0.388																																																	0													117	115	116					4																	100047843		2203	4300	6503	SO:0001819	synonymous_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1020C>T	4.37:g.100047843G>A			A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.D359	ENST00000265512.7	37	c.1077	CCDS34032.1	4																																																																																			ADH4	-	superfamily_GroES-like,smart_PKS_ER		0.388	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	G	NM_000670		100047843	-1	no_errors	ENST00000423445	ensembl	human	known	70_37	silent	SNP	0.991	A	A	100047843	G	A	100047843	2	1	114	1	0	0	0	0	0	0	0	1	310	1020	36	4		4	ADH4	4	100047843	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	11034410	100047843	91106433	41	16959										
KIAA1109	84162	genome.wustl.edu	37	chr4	123255617	123255617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tatgaaagatagtgcaacatCtcctccttctcctcctttac	4	13	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:123255617C>T	ENST00000264501.4	+	69	12138	c.11765C>T	c.(11764-11766)tCt>tTt	p.S3922F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S3922F			Q2LD37	K1109_HUMAN	KIAA1109	3922					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGCAACATCTCCTCCTTCT	0.473																																																	0													142	143	142					4																	123255617		2000	4160	6160	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11765C>T	4.37:g.123255617C>T	ENSP00000264501:p.Ser3922Phe		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S3922F	ENST00000264501.4	37	c.11765	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	15.35	2.809008	0.50421	.	.	ENSG00000138688	ENST00000264501;ENST00000388738	T;T	0.15256	2.44;2.44	5.34	4.5	0.54988	.	0.362631	0.21585	N	0.072188	T	0.12305	0.0299	N	0.22421	0.69	0.80722	D	1	B	0.14438	0.01	B	0.14578	0.011	T	0.05194	-1.0900	10	0.66056	D	0.02	.	9.8704	0.41170	0.0:0.906:0.0:0.094	.	3922	Q2LD37	K1109_HUMAN	F	3922	ENSP00000264501:S3922F;ENSP00000373390:S3922F	ENSP00000264501:S3922F	S	+	2	0	KIAA1109	123475067	1.000000	0.71417	0.948000	0.38648	0.988000	0.76386	3.112000	0.50368	1.389000	0.46526	0.650000	0.86243	TCT	KIAA1109	-	NULL		0.473	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123255617	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	0.982	T	T	123255617	C	T	123255617	3	4	114	1	0	0	0	0	1	0	0	0	8228	913	32	1	12031	1	KIAA1109	4	123255617	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	23207774	123255617	67898659	42	16960										
DCHS2	54798	genome.wustl.edu	37	chr4	155252850	155252850	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tctgcccaggttatgacataGatggtgcctgctggacctgc	12	11	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr4:155252850G>A	ENST00000357232.4	-	10	2249	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	750	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTATGACATAGATGGTGCCTG	0.468																																																	0													53	46	49					4																	155252850		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2250C>T	4.37:g.155252850G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I750	ENST00000357232.4	37	c.2250	CCDS3785.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155252850	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.000	A	A	155252850	G	A	155252850	2	1	114	1	0	0	0	0	0	0	0	1	4293	932	33	1		1	DCHS2	4	155252850	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	31997233	155252850	35901426	43	16961										
TAS2R1	50834	genome.wustl.edu	37	chr5	9629467	9629467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aaggacaggatagacagcaaCgcgctgatgggtgcacccct	13	11	0	2	rs140696180	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498																																																	0								C		0,4406		0,0,2203	67	75	72		678	-11.1	0	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R1	NM_019599.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		226/300	9629467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.678G>A	5.37:g.9629467C>T			Q646G8	Silent	SNP	pfam_TAS2_rcpt	p.A226	ENST00000382492.2	37	c.678	CCDS3876.1	5																																																																																			TAS2R1	-	pfam_TAS2_rcpt		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	C			9629467	-1	no_errors	ENST00000382492	ensembl	human	known	70_37	silent	SNP	0.000	T	T	9629467	C	T	9629467	2	4	114	1	0	0	0	0	0	0	0	1	15595	523	19	2		2	TAS2R1	5	9629467	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		9629467	171285793	44	16962										
PRDM9	56979	genome.wustl.edu	37	chr5	23526496	23526496	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccagagaatccctgcccaggGgatcagaatcaggagcagca	12	12	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:23526496G>T	ENST00000296682.3	+	11	1481	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	433					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTGCCCAGGGGATCAGAATC	0.448										HNSCC(3;0.000094)																																							0													89	86	87					5																	23526496		2203	4300	6503	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1299G>T	5.37:g.23526496G>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G433	ENST00000296682.3	37	c.1299	CCDS43307.1	5																																																																																			PRDM9	-	NULL		0.448	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23526496	1	no_errors	ENST00000296682	ensembl	human	known	70_37	silent	SNP	0.007	T	T	23526496	G	T	23526496	2	4	114	1	0	0	0	0	0	0	0	1	12490	1219	43	4		4	PRDM9	5	23526496	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	13897029	23526496	157388764	45	16963										
CDH10	1008	genome.wustl.edu	37	chr5	24535249	24535249	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aaacgtggtgggttgtcattGacatctgtcagcgtgatgtt	13	6	3	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:24535249G>A	ENST00000264463.4	-	5	1293	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTTGTCATTGACATCTGTCA	0.478										HNSCC(23;0.051)																																							0													180	146	157					5																	24535249		2203	4300	6503	SO:0001819	synonymous_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.786C>T	5.37:g.24535249G>A			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V262	ENST00000264463.4	37	c.786	CCDS3892.1	5																																																																																			CDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	G	NM_006727		24535249	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24535249	G	A	24535249	2	1	114	1	0	0	0	0	0	0	0	1	3101	1277	45	1		1	CDH10	5	24535249	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	1008753	24535249	156380011	46	16964										
SLC30A5	64924	genome.wustl.edu	37	chr5	68409018	68409018	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgatctgtttattgctttttGacaatgatgatctcatggct	8	6	2	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:68409018G>C	ENST00000396591.3	+	6	1109	c.499G>C	c.(499-501)Gac>Cac	p.D167H	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	167					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTTTTTGACAATGATGA	0.363																																																	0													159	143	148					5																	68409018		2203	4300	6503	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.499G>C	5.37:g.68409018G>C	ENSP00000379836:p.Asp167His		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.D167H	ENST00000396591.3	37	c.499	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799977	0.90538	.	.	ENSG00000145740	ENST00000396591	T	0.67698	-0.28	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.83343	-0.0007	10	0.87932	D	0	6.4508	17.6417	0.88138	0.0:0.0:1.0:0.0	.	167	Q8TAD4	ZNT5_HUMAN	H	167	ENSP00000379836:D167H	ENSP00000379836:D167H	D	+	1	0	SLC30A5	68444774	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.741000	0.98843	2.319000	0.78375	0.655000	0.94253	GAC	SLC30A5	-	NULL		0.363	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	G			68409018	1	no_errors	ENST00000396591	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68409018	G	C	68409018	3	2	114	1	0	0	0	0	1	0	0	0	14588	1290	45	1	609	1	SLC30A5	5	68409018	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	43873769	68409018	112506242	47	16965										
KDM3B	51780	genome.wustl.edu	37	chr5	137763729	137763729	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtgtctgatgctgttaatgtGatggtgtatgttgggattcc	14	4	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:137763729G>A	ENST00000314358.5	+	20	4907	c.4707G>A	c.(4705-4707)gtG>gtA	p.V1569V	KDM3B_ENST00000542866.1_Silent_p.V601V|KDM3B_ENST00000394866.1_Silent_p.V1225V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1569	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTTAATGTGATGGTGTATG	0.423																																																	0													345	324	331					5																	137763729		2203	4300	6503	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4707G>A	5.37:g.137763729G>A			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.V1569	ENST00000314358.5	37	c.4707	CCDS34242.1	5																																																																																			KDM3B	-	smart_JmjC_dom,pfscan_JmjC_dom		0.423	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	G	NM_016604		137763729	1	no_errors	ENST00000314358	ensembl	human	known	70_37	silent	SNP	1.000	A	A	137763729	G	A	137763729	2	1	114	1	0	0	0	0	0	0	0	1	8147	1277	45	1		1	KDM3B	5	137763729	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	69354711	137763729	43151531	48	16966										
PCDHA4	56144	genome.wustl.edu	37	chr5	140187459	140187459	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	actggcaccgttcagttactCatcacagtactggatgccaa	8	12	3	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:140187459C>T	ENST00000530339.1	+	1	687	c.687C>T	c.(685-687)ctC>ctT	p.L229L	PCDHA4_ENST00000512229.2_Silent_p.L229L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.L229L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTTACTCATCACAGTAC	0.423																																																	0													63	64	64					5																	140187459		2203	4300	6503	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.687C>T	5.37:g.140187459C>T			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L229	ENST00000530339.1	37	c.687	CCDS54916.1	5																																																																																			PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.423	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	C	NM_018907		140187459	1	no_errors	ENST00000530339	ensembl	human	known	70_37	silent	SNP	0.000	T	T	140187459	C	T	140187459	2	4	114	1	0	0	0	0	0	0	0	1	11550	813	29	1		1	PCDHA4	5	140187459	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	2423730	140187459	40727801	49	16967										
PCDHB8	56128	genome.wustl.edu	37	chr5	140559550	140559550	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagaggctggtggtgctggtCaaggacaatggcgagcctcc	16	10	1	1	rs537745447		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:140559550C>G	ENST00000239444.2	+	1	2180	c.1935C>G	c.(1933-1935)gtC>gtG	p.V645V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGTCAAGGACAATG	0.701													C|||	1	0.000199681	0	0	5008	,	,		15781	0		0.001	False		,,,				2504	0																0													20	22	21					5																	140559550		2142	4206	6348	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1935C>G	5.37:g.140559550C>G			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V645	ENST00000239444.2	37	c.1935	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	C	NM_019120		140559550	1	no_errors	ENST00000239444	ensembl	human	known	70_37	silent	SNP	0.954	G	G	140559550	C	G	140559550	2	3	114	1	0	0	0	0	0	0	0	1	11572	813	29	1		1	PCDHB8	5	140559550	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	372091	140559550	40355710	50	16968										
KIF4B	285643	genome.wustl.edu	37	chr5	154394755	154394755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agcatgtggcctgcaagctgGatcttcaaaagctagtggag	13	8	2	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:154394755G>T	ENST00000435029.4	+	1	1496	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCAAGCTGGATCTTCAAAA	0.438																																																	0													88	90	89					5																	154394755		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1336G>T	5.37:g.154394755G>T	ENSP00000387875:p.Asp446Tyr			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D446Y	ENST00000435029.4	37	c.1336	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	10.31	1.314649	0.23908	.	.	ENSG00000226650	ENST00000435029	T	0.70516	-0.49	2.12	0.0984	0.14498	.	.	.	.	.	T	0.68329	0.2989	M	0.74647	2.275	0.58432	D	0.999994	P	0.40398	0.716	B	0.43386	0.418	T	0.64402	-0.6416	9	0.72032	D	0.01	.	5.335	0.15953	0.1398:0.2067:0.6536:0.0	.	446	Q2VIQ3	KIF4B_HUMAN	Y	446	ENSP00000387875:D446Y	ENSP00000387875:D446Y	D	+	1	0	KIF4B	154374948	0.933000	0.31639	0.975000	0.42487	0.679000	0.39708	1.013000	0.29937	-0.168000	0.10853	-1.509000	0.00949	GAT	KIF4B	-	NULL		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	G			154394755	1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	0.999	T	T	154394755	G	T	154394755	3	4	114	1	0	0	0	0	1	0	0	0	8324	1174	41	3	1338	3	KIF4B	5	154394755	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	13835205	154394755	26520505	51	16969										
HMMR	3161	genome.wustl.edu	37	chr5	162910273	162910273	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caatttaattcttccatgcaGaaaagctgaaaaagaaaata	5	6	1	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:162910273G>A	ENST00000358715.3	+	15	1718		c.e15-1		HMMR_ENST00000393915.4_Splice_Site|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Splice_Site|HMMR_ENST00000353866.3_Splice_Site			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CTTCCATGCAGAAAAGCTGAA	0.308																																																	0													39	42	41					5																	162910273		2178	4284	6462	SO:0001630	splice_region_variant	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1683-1G>A	5.37:g.162910273G>A			A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Splice_Site	SNP	-	e15-1	ENST00000358715.3	37	c.1686-1	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970589	0.53614	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1355	0.59407	0.0733:0.0:0.9267:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMMR	162842851	1.000000	0.71417	0.962000	0.40283	0.669000	0.39330	4.222000	0.58580	2.768000	0.95171	0.655000	0.94253	.	HMMR	-	-		0.308	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484	Intron	162910273	1	no_errors	ENST00000393915	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	162910273	G	A	162910273	5	1	114	1	0	0	0	0	0	0	1	0	7262	956	33	1	1743	1	HMMR	5	162910273	Splice_Site	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	8515518	162910273	18004987	52	16970										
SFXN1	94081	genome.wustl.edu	37	chr5	174940540	174940540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtcggcgaacgctgcgaaacAagccatcacgcaagttgtcg	12	12	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr5:174940540A>C	ENST00000321442.5	+	7	925	c.671A>C	c.(670-672)cAa>cCa	p.Q224P		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	224					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGCGAAACAAGCCATCACG	0.517																																																	0													112	101	105					5																	174940540		2203	4300	6503	SO:0001583	missense	94081			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.671A>C	5.37:g.174940540A>C	ENSP00000316905:p.Gln224Pro		B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.Q224P	ENST00000321442.5	37	c.671	CCDS4394.1	5	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669371	0.47677	.	.	ENSG00000164466	ENST00000321442	T	0.30981	1.51	4.95	4.95	0.65309	.	0.108090	0.64402	D	0.000003	T	0.48447	0.1500	M	0.73217	2.22	0.80722	D	1	P	0.48834	0.916	P	0.57009	0.811	T	0.43556	-0.9384	10	0.34782	T	0.22	-4.2782	14.0874	0.64968	1.0:0.0:0.0:0.0	.	224	Q9H9B4	SFXN1_HUMAN	P	224	ENSP00000316905:Q224P	ENSP00000316905:Q224P	Q	+	2	0	SFXN1	174873146	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	9.037000	0.93765	1.971000	0.57363	0.379000	0.24179	CAA	SFXN1	-	pfam_Mtc,tigrfam_Mtc		0.517	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN1	HGNC	protein_coding	OTTHUMT00000252980.2	A	NM_022754		174940540	1	no_errors	ENST00000321442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	174940540	A	C	174940540	3	2	114	1	0	0	0	0	1	0	0	0	14224	130	5	5	693	5	SFXN1	5	174940540	Missense_Mutation	SNP	A	TCGA-EK-A2RN-01A-12D-A20U-09	12030267	174940540	5974720	53	16971										
RGL2	5863	genome.wustl.edu	37	chr6	33266252	33266252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctcttcttcttcctcctcctCttcctcctgccccccgccca	2	24	4	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:33266252C>G	ENST00000497454.1	-	2	631	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	RGL2_ENST00000437840.2_Intron|RGL2_ENST00000444031.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	46					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						tcctcctcctcttcctcctGC	0.637																																																	0													3	4	4					6																	33266252		1972	3907	5879	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.136G>C	6.37:g.33266252C>G	ENSP00000420211:p.Glu46Gln		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E46Q	ENST00000497454.1	37	c.136	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905587	0.52333	.	.	ENSG00000237441	ENST00000497454;ENST00000425946	T	0.11930	2.73	4.83	4.83	0.62350	.	0.616579	0.14510	N	0.315146	T	0.04092	0.0114	L	0.36672	1.1	0.80722	D	1	P	0.36974	0.576	B	0.28232	0.087	T	0.36578	-0.9742	10	0.14252	T	0.57	.	13.2872	0.60249	0.0:1.0:0.0:0.0	.	46	O15211	RGL2_HUMAN	Q	46	ENSP00000420211:E46Q	ENSP00000392918:E46Q	E	-	1	0	RGL2	33374230	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	1.827000	0.39102	2.516000	0.84829	0.579000	0.79373	GAG	RGL2	-	NULL		0.637	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	C			33266252	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33266252	C	G	33266252	3	3	114	1	0	0	0	0	1	0	0	0	13307	922	32	1	2265	1	RGL2	6	33266252	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		33266252	137848815	54	16972										
PKHD1	5314	genome.wustl.edu	37	chr6	51524491	51524491	+	Frame_Shift_Del	DEL	G	G	-													0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gaaaaaagcgcaaaacttgaGgagtttgatccatgaagcag							TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:51524491delG	ENST00000371117.3	-	61	10708	c.10433delC	c.(10432-10434)cctfs	p.P3478fs		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3478					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAAACTTGAGGAGTTTGATC	0.448																																																	0													83	85	84					6																	51524491		2203	4300	6503	SO:0001589	frameshift_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10433delC	6.37:g.51524491delG	ENSP00000360158:p.Pro3478fs		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Frame_Shift_Del	DEL	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.P3478fs	ENST00000371117.3	37	c.10433	CCDS4935.1	6																																																																																			PKHD1	-	NULL		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51524491	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	frame_shift_del	DEL	0.986	-	-	51524491	G	-	51524491	7	5	114	1	0	1	0	1	0	0	0	0	11995	1000	35	0	1819	0	PKHD1	6	51524491	Frame_Shift_Del	DEL	G	TCGA-EK-A2RN-01A-12D-A20U-09	18258239	51524491	119590576	55	16973										
HACE1	57531	genome.wustl.edu	37	chr6	105232900	105232900	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	acagcacatgtaaaaagcttGaatgacagcacttagccggt	9	9	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:105232900G>A	ENST00000262903.4	-	12	1645	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	HACE1_ENST00000369125.2_Nonsense_Mutation_p.Q457*|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	457					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TAAAAAGCTTGAATGACAGCA	0.408																																																	0													83	82	83					6																	105232900		2203	4300	6503	SO:0001587	stop_gained	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1369C>T	6.37:g.105232900G>A	ENSP00000262903:p.Gln457*		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Nonsense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.Q457*	ENST00000262903.4	37	c.1369	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.921191	0.97105	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.2333	0.89941	0.0:0.0:1.0:0.0	.	.	.	.	X	457	.	ENSP00000262903:Q457X	Q	-	1	0	HACE1	105339593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.231000	0.95317	2.380000	0.81148	0.467000	0.42956	CAA	HACE1	-	NULL		0.408	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	G	XM_045095		105232900	-1	no_errors	ENST00000262903	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	105232900	G	A	105232900	4	1	114	1	0	0	0	0	0	1	0	0	6960	1299	45	1	1412	1	HACE1	6	105232900	Nonsense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	53708409	105232900	65882167	56	16974										
AKD1	221264	genome.wustl.edu	37	chr6	109931705	109931705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agttacctcttctatcaagtCttctgttggggctaaagtaa	8	8	5	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:109931705C>T	ENST00000424296.2	-	17	1781	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	AK9_ENST00000368948.2_Missense_Mutation_p.D569N|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	569					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCTATCAAGTCTTCTGTTGGG	0.328																																																	0													142	115	123					6																	109931705		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1705G>A	6.37:g.109931705C>T	ENSP00000410186:p.Asp569Asn		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.D569N	ENST00000424296.2	37	c.1705	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	6.588	0.476806	0.12521	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	T;T	0.64991	-0.1;-0.13	4.55	2.58	0.30949	.	1.121610	0.06711	N	0.773159	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	0.999993	B	0.33694	0.421	B	0.22152	0.038	T	0.06881	-1.0802	9	.	.	.	-1.7884	9.125	0.36810	0.4221:0.5779:0.0:0.0	.	569	Q5TCS8	AKD1_HUMAN	N	569	ENSP00000410186:D569N;ENSP00000357944:D569N	.	D	-	1	0	AKD1	110038398	0.735000	0.28153	0.030000	0.17652	0.081000	0.17604	1.915000	0.39976	1.246000	0.43901	0.650000	0.86243	GAC	AKD1	-	NULL		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109931705	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.023	T	T	109931705	C	T	109931705	3	4	114	1	0	0	0	0	1	0	0	0	460	913	32	1	4130	1	AKD1	6	109931705	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	4698805	109931705	61183362	57	16975										
AKAP7	9465	genome.wustl.edu	37	chr6	131602687	131602687	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	taggtgaaaagaacggagggGagcccgatgacgctgaacta	15	7	0	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:131602687G>C	ENST00000431975.2	+	8	966	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	AKAP7_ENST00000263050.3_Missense_Mutation_p.E26Q|AKAP7_ENST00000368123.4_Missense_Mutation_p.E268Q|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.E46Q|AKAP7_ENST00000342266.4_Missense_Mutation_p.E23Q|AKAP7_ENST00000537868.1_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	290						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAACGGAGGGGAGCCCGATGA	0.502																																																	0													59	60	60					6																	131602687		2203	4300	6503	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.868G>C	6.37:g.131602687G>C	ENSP00000405252:p.Glu290Gln		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.E268Q	ENST00000431975.2	37	c.802	CCDS5142.2	6	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575721	0.65878	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.37584	1.19;1.2	5.97	5.09	0.68999	Protein kinase A anchor protein, RI-RII subunit-binding domain (2);	0.308380	0.33753	N	0.004586	T	0.22044	0.0531	L	0.29908	0.895	0.42764	D	0.993815	B;B;P	0.48407	0.053;0.284;0.91	B;B;P	0.45071	0.071;0.109;0.468	T	0.03945	-1.0990	10	0.66056	D	0.02	-7.1172	16.2072	0.82135	0.0:0.1332:0.8668:0.0	.	23;46;290	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	Q	290;268;26;23;46	ENSP00000405252:E290Q;ENSP00000357105:E268Q	ENSP00000263050:E26Q	E	+	1	0	AKAP7	131644380	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	5.779000	0.68948	1.503000	0.48686	0.655000	0.94253	GAG	AKAP7	-	pfam_Kinase-A_anchor_RI-RII-bd_dom		0.502	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2	G	NM_004842		131602687	1	no_errors	ENST00000368123	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131602687	G	C	131602687	3	2	114	1	0	0	0	0	1	0	0	0	456	1175	41	1	954	1	AKAP7	6	131602687	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	21670982	131602687	39512380	58	16976										
TAAR5	9038	genome.wustl.edu	37	chr6	132910798	132910798	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gaatgccgcagggtgctcttCagcaccttggatgaagacag	13	10	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr6:132910798C>T	ENST00000258034.2	-	1	79	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	10					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGGTGCTCTTCAGCACCTTGG	0.493																																																	0													69	66	67					6																	132910798		2203	4300	6503	SO:0001583	missense	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.28G>A	6.37:g.132910798C>T	ENSP00000258034:p.Glu10Lys		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.E10K	ENST00000258034.2	37	c.28	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998138	0.54147	.	.	ENSG00000135569	ENST00000258034	T	0.70516	-0.49	4.94	4.94	0.65067	.	0.748852	0.11886	N	0.520007	T	0.46502	0.1396	L	0.38175	1.15	0.09310	N	1	B	0.30021	0.265	B	0.24541	0.054	T	0.35919	-0.9769	10	0.22706	T	0.39	0.5102	18.3057	0.90180	0.0:1.0:0.0:0.0	.	10	O14804	TAAR5_HUMAN	K	10	ENSP00000258034:E10K	ENSP00000258034:E10K	E	-	1	0	TAAR5	132952491	0.000000	0.05858	0.042000	0.18584	0.027000	0.11550	0.318000	0.19504	2.724000	0.93272	0.514000	0.50259	GAA	TAAR5	-	NULL		0.493	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	C	NM_003967		132910798	-1	no_errors	ENST00000258034	ensembl	human	known	70_37	missense	SNP	0.065	T	T	132910798	C	T	132910798	3	4	114	1	0	0	0	0	1	0	0	0	15521	835	29	1	989	1	TAAR5	6	132910798	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	1308111	132910798	38204269	59	16977										
FBXL18	80028	genome.wustl.edu	37	chr7	5541259	5541259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggcccaccataagctggcccGagaggatggcgccctcgcgc	14	16	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:5541259G>A	ENST00000382368.3	-	3	764	c.641C>T	c.(640-642)tCg>tTg	p.S214L	FBXL18_ENST00000453700.3_Missense_Mutation_p.S214L	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	214									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AAGCTGGCCCGAGAGGATGGC	0.642																																																	0													26	32	30					7																	5541259		2044	4189	6233	SO:0001583	missense	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.641C>T	7.37:g.5541259G>A	ENSP00000371805:p.Ser214Leu		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S214L	ENST00000382368.3	37	c.641	CCDS43546.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.012500|4.012500	0.75161|0.75161	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.56941	.|0.48;0.43	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.166079	.|0.53938	.|D	.|0.000049	T|T	0.56202|0.56202	0.1969|0.1969	N|N	0.24115|0.24115	0.695|0.695	0.45284|0.45284	D|D	0.998283|0.998283	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56788	.|0.806;0.806	T|T	0.60964|0.60964	-0.7158|-0.7158	5|10	.|0.66056	.|D	.|0.02	.|.	18.1629|18.1629	0.89716|0.89716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;214	.|F5H4Z4;Q96ME1-4	.|.;.	W|L	98|214	.|ENSP00000371805:S214L;ENSP00000444797:S214L	.|ENSP00000311990:S214L	R|S	-|-	1|2	2|0	FBXL18|FBXL18	5507785|5507785	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	6.082000|6.082000	0.71318|0.71318	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	CGG|TCG	FBXL18	-	NULL		0.642	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	G	NM_024963		5541259	-1	no_errors	ENST00000453700	ensembl	human	known	70_37	missense	SNP	0.995	A	A	5541259	G	A	5541259	3	1	114	1	0	0	0	0	1	0	0	0	5732	1059	37	1	1527	1	FBXL18	7	5541259	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		5541259	153597404	60	16978										
ABCA13	154664	genome.wustl.edu	37	chr7	48431550	48431550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggggctccaccctcccacttCtggaaccatcatcatcaatg	7	16	4	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:48431550C>T	ENST00000435803.1	+	38	11711	c.11687C>T	c.(11686-11688)tCt>tTt	p.S3896F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3896	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTCCCACTTCTGGAACCATC	0.517																																																	0													80	80	80					7																	48431550		1997	4167	6164	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11687C>T	7.37:g.48431550C>T	ENSP00000411096:p.Ser3896Phe		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S3896F	ENST00000435803.1	37	c.11687	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585651	0.46110	.	.	ENSG00000179869	ENST00000435803	D	0.94828	-3.53	4.95	4.95	0.65309	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.40064	U	0.001187	D	0.97942	0.9323	H	0.94542	3.55	0.40865	D	0.983867	D;D	0.89917	1.0;0.999	D;D	0.91635	0.994;0.999	D	0.99813	1.1042	10	0.87932	D	0	.	14.9026	0.70692	0.0:1.0:0.0:0.0	.	1598;3896	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	F	3896	ENSP00000411096:S3896F	ENSP00000411096:S3896F	S	+	2	0	ABCA13	48402096	0.994000	0.37717	0.327000	0.25402	0.464000	0.32679	3.817000	0.55668	2.296000	0.77279	0.467000	0.42956	TCT	ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.517	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48431550	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.391	T	T	48431550	C	T	48431550	3	4	114	1	0	0	0	0	1	0	0	0	31	913	32	1	11666	1	ABCA13	7	48431550	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	42890291	48431550	110707113	61	16979										
PCLO	27445	genome.wustl.edu	37	chr7	82584937	82584937	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ttcttcttcctctctcaattCttcttcctctgaagaatctt	2	13	8	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:82584937C>T	ENST00000333891.9	-	5	5669	c.5332G>A	c.(5332-5334)Gaa>Aaa	p.E1778K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1778K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTCTCAATTCTTCTTCCTCT	0.403																																																	0													93	87	88					7																	82584937		1870	4110	5980	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5332G>A	7.37:g.82584937C>T	ENSP00000334319:p.Glu1778Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E1778K	ENST00000333891.9	37	c.5332	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806165	0.31961	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19938	2.11;2.11	5.56	5.56	0.83823	.	.	.	.	.	T	0.15262	0.0368	N	0.14661	0.345	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.35470	0.203;0.203	T	0.05131	-1.0904	9	0.87932	D	0	.	19.5207	0.95184	0.0:1.0:0.0:0.0	.	1778;1778	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1709;1778;1778	ENSP00000334319:E1778K;ENSP00000388393:E1778K	ENSP00000334319:E1778K	E	-	1	0	PCLO	82422873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.614000	0.88457	0.650000	0.86243	GAA	PCLO	-	NULL		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82584937	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82584937	C	T	82584937	3	4	114	1	0	0	0	0	1	0	0	0	11607	922	32	1	10197	1	PCLO	7	82584937	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	34153387	82584937	76553726	62	16980										
DLX6	1750	genome.wustl.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994																0																																										SO:0001652	inframe_insertion	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.48in_frame_insP	ENST00000518156.2	37	c.131_132	CCDS47647.2	7																																																																																			DLX6	-	NULL		0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4	-	NM_005222		96635421	1	no_errors	ENST00000518156	ensembl	human	known	70_37	in_frame_ins	INS	0.990:1.000	GCC	GCC	96635421	-	GCC	96635420	7	5	114	1	0	1	1	0	0	0	0	0	4585	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-EK-A2RN-01A-12D-A20U-09	14050483	96635420	62503243	63	16981										
SSPO	23145	genome.wustl.edu	37	chr7	149515801	149515801	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aagctgcacggaccccgctcGccctgcatggcgcagccgca	12	18	0	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:149515801G>A	ENST00000378016.2	+	0	11702							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCCCGCTCGCCCTGCATGG	0.687																																																	0													16	19	18					7																	149515801		1989	4149	6138			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515801G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.687	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149515801	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.000	A	A	149515801	G	A	149515801	1	1	114	0	1	0	0	0	0	0	0	0	15219	1087	38	2		2	SSPO	7	149515801	RNA	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	52880381	149515801	9622862	64	16982										
ABP1	26	genome.wustl.edu	37	chr7	150554780	150554780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tccactactatgatgccgatGacccggtccattatccccga	7	15	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr7:150554780G>A	ENST00000493429.1	+	4	1806	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	AOC1_ENST00000360937.4_Missense_Mutation_p.D408N|AOC1_ENST00000416793.2_Missense_Mutation_p.D408N|AOC1_ENST00000467291.1_Missense_Mutation_p.D408N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	408					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TGATGCCGATGACCCGGTCCA	0.587																																																	0													55	62	60					7																	150554780		2052	4201	6253	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1222G>A	7.37:g.150554780G>A	ENSP00000418614:p.Asp408Asn		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.D408N	ENST00000493429.1	37	c.1222	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580615	0.13686	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03745	3.82;3.82;3.82;3.82	5.49	5.49	0.81192	Copper amine oxidase, C-terminal (3);	0.712373	0.14150	N	0.338075	T	0.02649	0.0080	N	0.05383	-0.06	0.09310	N	0.999994	B;B	0.25390	0.125;0.0	B;B	0.29942	0.109;0.003	T	0.49753	-0.8906	10	0.20519	T	0.43	-16.1871	10.6353	0.45560	0.0875:0.0:0.9125:0.0	.	408;408	C9J690;P19801	.;ABP1_HUMAN	N	408;408;408;408;284	ENSP00000418614:D408N;ENSP00000418328:D408N;ENSP00000354193:D408N;ENSP00000411613:D408N	ENSP00000354193:D408N	D	+	1	0	ABP1	150185713	0.034000	0.19679	0.009000	0.14445	0.039000	0.13416	2.566000	0.45948	2.735000	0.93741	0.561000	0.74099	GAC	ABP1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.587	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	G	NM_001091		150554780	1	no_errors	ENST00000416793	ensembl	human	known	70_37	missense	SNP	0.347	A	A	150554780	G	A	150554780	3	1	114	1	0	0	0	0	1	0	0	0	98	1290	45	1	1224	1	ABP1	7	150554780	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	1038979	150554780	8583883	65	16983										
DEFB104A	140596	genome.wustl.edu	37	chr8	7698576	7698576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgagaagcgaatttgaattgGacagaatatgtggttatggg	14	2	0	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:7698576G>A	ENST00000314265.2	+	2	93	c.79G>A	c.(79-81)Gac>Aac	p.D27N		NM_080389.2	NP_525128.2	Q8WTQ1	D104A_HUMAN	defensin, beta 104A	27					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D27N(1)		liver(2)|pancreas(1)|skin(1)	4				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATTTGAATTGGACAGAATATG	0.448																																																	1	Substitution - Missense(1)	skin(1)											86	77	80					8																	7698576		2201	4276	6477	SO:0001583	missense	140596			AJ314835	CCDS34834.1	8p23.1	2011-03-29	2005-02-25	2005-02-25	ENSG00000176782	ENSG00000176782		"Defensins, beta"	18115	protein-coding gene	gene with protein product			"defensin, beta 104"	DEFB104			Standard	NM_080389		Approved	DEFB4, DEFB-4		Q8WTQ1	OTTHUMG00000150014	ENST00000314265.2:c.79G>A	8.37:g.7698576G>A	ENSP00000320813:p.Asp27Asn		Q496I2|Q496I3|Q496I4	Missense_Mutation	SNP	NULL	p.D27N	ENST00000314265.2	37	c.79	CCDS34834.1	8	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802937	0.31869	.	.	ENSG00000176782	ENST00000314265	T	0.13901	2.55	2.72	-0.268	0.12934	.	0.708276	0.11679	N	0.539975	T	0.13670	0.0331	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27673	-1.0067	7	0.62326	D	0.03	-11.9683	5.1927	0.15218	0.4594:0.0:0.5406:0.0	.	.	.	.	N	27	ENSP00000320813:D27N	ENSP00000320813:D27N	D	+	1	0	DEFB104A	7735986	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	0.415000	0.21181	-0.220000	0.09988	-0.335000	0.08231	GAC	DEFB104A	-	NULL		0.448	DEFB104A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB104A	HGNC	protein_coding	OTTHUMT00000315761.1	G	NM_080389		7698576	1	no_errors	ENST00000314265	ensembl	human	known	70_37	missense	SNP	0.000	A	A	7698576	G	A	7698576	3	1	114	1	0	0	0	0	1	0	0	0	4402	1174	41	1	312	1	DEFB104A	8	7698576	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		7698576	138665446	66	16984										
SGK223	157285	genome.wustl.edu	37	chr8	8185888	8185888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctgggggccactgggggacaCgtcctcagtggagcctgaag	17	11	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:8185888C>T	ENST00000520004.1	-	5	2668	c.2404G>A	c.(2404-2406)Gtg>Atg	p.V802M	SGK223_ENST00000330777.4_Missense_Mutation_p.V802M			Q86YV5	SG223_HUMAN		804							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGGGGGACACGTCCTCAGTG	0.622																																					GBM(34;731 755 10259 33573 33867)												0													30	37	34					8																	8185888		1926	4123	6049	SO:0001583	missense	157285																														ENST00000520004.1:c.2404G>A	8.37:g.8185888C>T	ENSP00000428054:p.Val802Met		Q8N3N5	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,pfscan_Prot_kinase_cat_dom	p.V802M	ENST00000520004.1	37	c.2404	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689123	0.29962	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57273	0.41;0.41	5.5	3.68	0.42216	.	0.445667	0.20557	N	0.089992	T	0.40670	0.1126	L	0.44542	1.39	0.25662	N	0.985996	B	0.26081	0.141	B	0.12156	0.007	T	0.32295	-0.9912	10	0.46703	T	0.11	.	8.4463	0.32843	0.0:0.7602:0.0:0.2398	.	802	Q86YV5	SG223_HUMAN	M	802	ENSP00000330930:V802M;ENSP00000428054:V802M	ENSP00000330930:V802M	V	-	1	0	AC068353.1	8223298	0.001000	0.12720	0.997000	0.53966	0.743000	0.42351	0.319000	0.19522	1.464000	0.47987	0.563000	0.77884	GTG	SGK223	-	NULL		0.622	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	C			8185888	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	missense	SNP	0.966	T	T	8185888	C	T	8185888	3	4	114	1	0	0	0	0	1	0	0	0	14240	536	19	2	1812	2	SGK223	8	8185888	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	487312	8185888	138178134	67	16985										
NPM2	10361	genome.wustl.edu	37	chr8	21882801	21882801	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agcacggaggaaaaggcagtGacgaccgtgctctggggtga	17	8	1	2	rs372304710		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:21882801G>C	ENST00000397940.1	+	2	1057	c.42G>C	c.(40-42)gtG>gtC	p.V14V	NPM2_ENST00000289820.6_Silent_p.V14V|NPM2_ENST00000518119.1_Silent_p.V14V|NPM2_ENST00000381530.5_Silent_p.V14V|NPM2_ENST00000520180.1_Intron|NPM2_ENST00000521157.1_Silent_p.V14V			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	14					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AAAAGGCAGTGACGACCGTGC	0.682																																																	0								G		0,4406		0,0,2203	36	38	37		42	-7.7	0	8		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPM2	NM_182795.1		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		14/215	21882801	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10361			AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.42G>C	8.37:g.21882801G>C			B3KSU0|D3DSQ8|Q6NVH6	Silent	SNP	pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core	p.V14	ENST00000397940.1	37	c.42	CCDS6018.1	8																																																																																			NPM2	-	NULL		0.682	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM2	HGNC	protein_coding	OTTHUMT00000253810.2	G	NM_182795		21882801	1	no_errors	ENST00000397940	ensembl	human	known	70_37	silent	SNP	0.000	C	C	21882801	G	C	21882801	2	2	114	1	0	0	0	0	0	0	0	1	10612	1277	45	1		1	NPM2	8	21882801	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	13696913	21882801	124481221	68	16986										
ADAM7	8756	genome.wustl.edu	37	chr8	24299985	24299985	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcctcttatgtttcctcgtaGaaaagttcatccttggagta	7	9	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:24299985G>A	ENST00000175238.6	+	2	135		c.e2-1		RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCCTCGTAGAAAAGTTCAT	0.418																																																	0													195	192	193					8																	24299985		2203	4300	6503	SO:0001630	splice_region_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.53-1G>A	8.37:g.24299985G>A			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e2-1	ENST00000175238.6	37	c.53-1	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753461	0.31046	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.405	0.55434	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24355930	0.997000	0.39634	0.468000	0.27192	0.063000	0.16089	4.005000	0.57075	2.652000	0.90054	0.557000	0.71058	.	ADAM7	-	-		0.418	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817	Intron	24299985	1	no_errors	ENST00000175238	ensembl	human	known	70_37	splice_site	SNP	0.571	A	A	24299985	G	A	24299985	5	1	114	1	0	0	0	0	0	0	1	0	251	956	33	1	58	1	ADAM7	8	24299985	Splice_Site	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2417184	24299985	122064037	69	16987										
POTEA	340441	genome.wustl.edu	37	chr8	43173647	43173647	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtaataatgtgggattatcaGaaaacctgactgatggtgct	11	5	1	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:43173647G>C	ENST00000522175.2	+	0	933							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGATTATCAGAAAACCTGAC	0.378																																																	0													151	149	149					8																	43173647		2198	4298	6496			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173647G>C			A6ND17|A6ND71|Q6S8J6	RNA	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			POTEA	-	-		0.378	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	G	NM_001002920		43173647	1	no_errors	ENST00000522175	ensembl	human	known	70_37	rna	SNP	0.085	C	C	43173647	G	C	43173647	1	2	114	0	1	0	0	0	0	0	0	0	12285	943	33	1		1	POTEA	8	43173647	RNA	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	18873662	43173647	103190375	70	16988										
CYP7B1	9420	genome.wustl.edu	37	chr8	65509246	65509246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aacatcagaatctggatactGaataccaaacaacaagcggc	7	10	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:65509246G>A	ENST00000310193.3	-	6	1647	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	492					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCTGGATACTGAATACCAAAC	0.279																																																	0													45	48	47					8																	65509246		2202	4300	6502	SO:0001587	stop_gained	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1474C>T	8.37:g.65509246G>A	ENSP00000310721:p.Gln492*		B2RN07|Q9UNF5	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.Q492*	ENST00000310193.3	37	c.1474	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614717	0.87359	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.41	3.56	0.40772	.	0.594177	0.16672	N	0.204329	.	.	.	.	.	.	0.48762	D	0.9997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-26.1733	7.8696	0.29558	0.1462:0.1344:0.7194:0.0	.	.	.	.	X	492	.	ENSP00000310721:Q492X	Q	-	1	0	CYP7B1	65671800	0.998000	0.40836	0.075000	0.20258	0.050000	0.14768	2.108000	0.41854	0.596000	0.29794	0.563000	0.77884	CAG	CYP7B1	-	superfamily_Cyt_P450		0.279	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	G			65509246	-1	no_errors	ENST00000310193	ensembl	human	known	70_37	nonsense	SNP	0.487	A	A	65509246	G	A	65509246	4	1	114	1	0	0	0	0	0	1	0	0	4202	1299	45	1	50	1	CYP7B1	8	65509246	Nonsense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	22335599	65509246	80854776	71	16989										
DECR1	1666	genome.wustl.edu	37	chr8	91013777	91013777	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcccggctgccctgtggcctCgctcctcggagggtaaggcg	15	15	0	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:91013777C>T	ENST00000220764.2	+	1	145	c.57C>T	c.(55-57)ctC>ctT	p.L19L	DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	19					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTGTGGCCTCGCTCCTCGGA	0.697											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	20	19					8																	91013777		2202	4299	6501	SO:0001819	synonymous_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.57C>T	8.37:g.91013777C>T		1279	B7Z6B8|Q2M304|Q93085	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.L19	ENST00000220764.2	37	c.57	CCDS6250.1	8																																																																																			DECR1	-	NULL		0.697	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR1	HGNC	protein_coding	OTTHUMT00000375822.1	C			91013777	1	no_errors	ENST00000220764	ensembl	human	known	70_37	silent	SNP	0.000	T	T	91013777	C	T	91013777	2	4	114	1	0	0	0	0	0	0	0	1	4387	871	31	1		1	DECR1	8	91013777	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	25504531	91013777	55350245	72	16990										
RUNX1T1	862	genome.wustl.edu	37	chr8	93023292	93023292	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agcttcttgcagtttggaatGaaattcttcaattgtcaaag	8	6	4	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:93023292G>A	ENST00000523629.1	-	5	950	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H166Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H177Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H139Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	166	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTTTGGAATGAAATTCTTCA	0.318																																																	0													119	117	118					8																	93023292		2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.496C>T	8.37:g.93023292G>A	ENSP00000428543:p.His166Tyr		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.H177Y	ENST00000523629.1	37	c.529	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.298541	0.95574	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.87	5.87	0.94306	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.999;0.996;0.999;0.995	D;D;D;D;D	0.85130	0.967;0.996;0.978;0.997;0.963	T	0.67945	-0.5539	10	0.72032	D	0.01	-15.7859	20.5827	0.99408	0.0:0.0:1.0:0.0	.	177;177;139;166;139	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	Y	166;139;166;129;129;129;177;139;129;166;129;166	ENSP00000428543:H166Y;ENSP00000379520:H139Y;ENSP00000265814:H166Y;ENSP00000353504:H129Y;ENSP00000390137:H129Y;ENSP00000428742:H129Y;ENSP00000402257:H177Y;ENSP00000430728:H139Y;ENSP00000429728:H129Y;ENSP00000431094:H166Y;ENSP00000427763:H129Y;ENSP00000430204:H166Y	ENSP00000265814:H166Y	H	-	1	0	RUNX1T1	93092468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CAT	RUNX1T1	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO		0.318	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93023292	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93023292	G	A	93023292	3	1	114	1	0	0	0	0	1	0	0	0	13777	1290	45	1	1350	1	RUNX1T1	8	93023292	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2009515	93023292	53340730	73	16991										
SPAG1	6674	genome.wustl.edu	37	chr8	101196925	101196925	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aggaaatgaagctttcaactCaggagattatgaagaagcag	11	5	2	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:101196925C>G	ENST00000388798.2	+	7	856	c.665C>G	c.(664-666)tCa>tGa	p.S222*	SPAG1_ENST00000520508.1_Nonsense_Mutation_p.S222*|SPAG1_ENST00000251809.3_Nonsense_Mutation_p.S222*|SPAG1_ENST00000520643.1_Nonsense_Mutation_p.S222*|Y_RNA_ENST00000362797.1_RNA	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	222					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCTTTCAACTCAGGAGATTAT	0.328																																																	0													109	109	109					8																	101196925		2203	4300	6503	SO:0001587	stop_gained	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.665C>G	8.37:g.101196925C>G	ENSP00000373450:p.Ser222*		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S222*	ENST00000388798.2	37	c.665	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.849917	0.97885	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	.	.	.	5.59	4.72	0.59763	.	0.769209	0.12039	N	0.505236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.582	13.1961	0.59738	0.0:0.922:0.0:0.078	.	.	.	.	X	222	.	ENSP00000251809:S222X	S	+	2	0	SPAG1	101266101	0.679000	0.27596	0.482000	0.27366	0.979000	0.70002	1.828000	0.39111	1.375000	0.46248	0.591000	0.81541	TCA	SPAG1	-	smart_TPR_repeat		0.328	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	C	NM_172218		101196925	1	no_errors	ENST00000251809	ensembl	human	known	70_37	nonsense	SNP	0.367	G	G	101196925	C	G	101196925	4	3	114	1	0	0	0	0	0	1	0	0	15005	838	29	1	687	1	SPAG1	8	101196925	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	8173633	101196925	45167097	74	16992										
ODF1	4956	genome.wustl.edu	37	chr8	103564151	103564151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccaagcgatcacgctcttgcGgcctgtgtgatctctaccca	9	15	3	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:103564151G>A	ENST00000285402.3	+	1	352	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	66	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ACGCTCTTGCGGCCTGTGTGA	0.502																																																	0													312	252	273					8																	103564151		2203	4300	6503	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.196G>A	8.37:g.103564151G>A	ENSP00000285402:p.Gly66Ser		Q3SX72	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.G66S	ENST00000285402.3	37	c.196	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880974	0.72294	.	.	ENSG00000155087	ENST00000285402	T	0.44083	0.93	5.83	4.9	0.64082	.	0.110508	0.41097	N	0.000952	T	0.34803	0.0910	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.55303	0.773	T	0.18398	-1.0338	10	0.49607	T	0.09	-42.7372	11.3959	0.49841	0.0:0.0:0.8198:0.1802	.	66	Q14990	ODFP1_HUMAN	S	66	ENSP00000285402:G66S	ENSP00000285402:G66S	G	+	1	0	ODF1	103633327	0.983000	0.35010	0.984000	0.44739	0.671000	0.39405	2.038000	0.41184	2.750000	0.94351	0.655000	0.94253	GGC	ODF1	-	NULL		0.502	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	G			103564151	1	no_errors	ENST00000285402	ensembl	human	known	70_37	missense	SNP	0.993	A	A	103564151	G	A	103564151	3	1	114	1	0	0	0	0	1	0	0	0	10850	1116	39	2	198	2	ODF1	8	103564151	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2367226	103564151	42799871	75	16993										
RAD21	5885	genome.wustl.edu	37	chr8	117864207	117864207	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aggcatcacaggctctgggtCaatttgtccagcttttcgct	10	11	3	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:117864207C>G	ENST00000297338.2	-	11	1737	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_Missense_Mutation_p.D29H|RAD21_ENST00000523986.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	484	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GGCTCTGGGTCAATTTGTCCA	0.463																																																	0													138	123	128					8																	117864207		2203	4300	6503	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1450G>C	8.37:g.117864207C>G	ENSP00000297338:p.Asp484His		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.D484H	ENST00000297338.2	37	c.1450	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417179	0.62511	.	.	ENSG00000164754	ENST00000297338;ENST00000518055	T;T	0.66099	0.65;-0.19	5.7	5.7	0.88788	.	0.087235	0.85682	D	0.000000	T	0.60495	0.2273	L	0.51422	1.61	0.58432	D	0.999999	B	0.32968	0.392	B	0.33042	0.157	T	0.57556	-0.7791	10	0.35671	T	0.21	-17.336	19.8429	0.96697	0.0:1.0:0.0:0.0	.	484	O60216	RAD21_HUMAN	H	484;29	ENSP00000297338:D484H;ENSP00000428003:D29H	ENSP00000297338:D484H	D	-	1	0	RAD21	117933388	1.000000	0.71417	0.966000	0.40874	0.917000	0.54804	7.466000	0.80914	2.685000	0.91497	0.650000	0.86243	GAC	RAD21	-	NULL		0.463	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117864207	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117864207	C	G	117864207	3	3	114	1	0	0	0	0	1	0	0	0	13011	826	29	1	461	1	RAD21	8	117864207	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	14300056	117864207	28499815	76	16994										
MAL2	114569	genome.wustl.edu	37	chr8	120252534	120252534	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agccactcctgagtgataacCagtataacataaacgtagca	7	10	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:120252534C>T	ENST00000276681.6	+	4	535	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	145	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			GAGTGATAACCAGTATAACAT	0.453																																																	0													55	54	54					8																	120252534		1917	4137	6054	SO:0001587	stop_gained	114569			AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.433C>T	8.37:g.120252534C>T	ENSP00000475434:p.Gln145*		B2R520|Q6ZMD9	RNA	SNP	-	NULL	ENST00000276681.6	37	NULL		8																																																																																			MAL2	-	-		0.453	MAL2-201	KNOWN	basic|appris_principal	protein_coding	MAL2	HGNC	protein_coding		C	NM_052886		120252534	1	no_errors	ENST00000276681	ensembl	human	known	70_37	rna	SNP	1.000	T	T	120252534	C	T	120252534	4	4	114	1	0	0	0	0	0	1	0	0	9223	595	21	4	444	4	MAL2	8	120252534	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	2388327	120252534	26111488	77	16995										
ENPP2	5168	genome.wustl.edu	37	chr8	120581607	120581607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtcaggaacgctggaaacctCagcctgcacgggagtcagag	14	11	3	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:120581607C>G	ENST00000075322.6	-	21	1979	c.1921G>C	c.(1921-1923)Gag>Cag	p.E641Q	ENPP2_ENST00000259486.6_Missense_Mutation_p.E693Q|ENPP2_ENST00000522167.1_Missense_Mutation_p.E276Q|ENPP2_ENST00000522826.1_Missense_Mutation_p.E666Q|ENPP2_ENST00000427067.2_Missense_Mutation_p.E662Q	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	641					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGGAAACCTCAGCCTGCACG	0.507																																					Melanoma(20;305 879 2501 4818 31020)												0													87	77	80					8																	120581607		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1921G>C	8.37:g.120581607C>G	ENSP00000075322:p.Glu641Gln		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E693Q	ENST00000075322.6	37	c.2077	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230978	0.58777	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.36	5.36	0.76844	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.199327	0.52532	D	0.000067	T	0.72203	0.3431	L	0.27053	0.805	0.80722	D	1	D;P;B;B;P	0.61080	0.989;0.458;0.04;0.411;0.907	D;P;B;P;P	0.69142	0.962;0.704;0.101;0.514;0.468	T	0.69331	-0.5173	10	0.28530	T	0.3	.	19.1047	0.93290	0.0:1.0:0.0:0.0	.	179;666;641;693;276	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	Q	693;662;276;666;641	ENSP00000259486:E693Q;ENSP00000403315:E662Q;ENSP00000429476:E276Q;ENSP00000428291:E666Q;ENSP00000075322:E641Q	ENSP00000075322:E641Q	E	-	1	0	ENPP2	120650788	1.000000	0.71417	0.992000	0.48379	0.164000	0.22412	7.008000	0.76341	2.515000	0.84797	0.650000	0.86243	GAG	ENPP2	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.507	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120581607	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120581607	C	G	120581607	3	3	114	1	0	0	0	0	1	0	0	0	5142	835	29	1	690	1	ENPP2	8	120581607	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	329073	120581607	25782415	78	16996										
FAM83H	286077	genome.wustl.edu	37	chr8	144811394	144811394	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gaagtgctgcgcgttcatctCatccagcaggatgtagactg	12	10	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr8:144811394C>T	ENST00000388913.3	-	3	672	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	183					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGTTCATCTCATCCAGCAGG	0.622																																																	0													67	75	72					8																	144811394		2087	4202	6289	SO:0001583	missense	286077			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.547G>A	8.37:g.144811394C>T	ENSP00000373565:p.Glu183Lys		A0JLS2|Q8N4W0	Missense_Mutation	SNP	pfam_DUF1669	p.E183K	ENST00000388913.3	37	c.547	CCDS6410.2	8	.	.	.	.	.	.	.	.	.	.	c	30	5.058185	0.93846	.	.	ENSG00000180921	ENST00000388913	T	0.12039	2.72	5.11	5.11	0.69529	.	0.056730	0.64402	D	0.000002	T	0.31136	0.0787	L	0.58669	1.825	0.44432	D	0.997351	D	0.61080	0.989	D	0.65010	0.931	T	0.00967	-1.1497	10	0.66056	D	0.02	.	13.597	0.61996	0.0:0.8443:0.1557:0.0	.	183	Q6ZRV2	FA83H_HUMAN	K	183	ENSP00000373565:E183K	ENSP00000373565:E183K	E	-	1	0	FAM83H	144883382	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.838000	0.55828	2.541000	0.85698	0.561000	0.74099	GAG	FAM83H	-	pfam_DUF1669		0.622	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83H	HGNC	protein_coding	OTTHUMT00000257632.2	C	NM_198488		144811394	-1	no_errors	ENST00000388913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144811394	C	T	144811394	3	4	114	1	0	0	0	0	1	0	0	0	5658	835	29	1	3004	1	FAM83H	8	144811394	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	24229787	144811394	1552628	79	16997										
KANK1	23189	genome.wustl.edu	37	chr9	731244	731244	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atggcgcaaaaaagaatcttCagtttgttggcattaatgga	10	5	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:731244C>T	ENST00000382303.1	+	9	3635	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.Q995*|KANK1_ENST00000382293.3_Nonsense_Mutation_p.Q837*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	995					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAAGAATCTTCAGTTTGTTGG	0.408																																																	0													137	125	129					9																	731244		2203	4300	6503	SO:0001587	stop_gained	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2983C>T	9.37:g.731244C>T	ENSP00000371740:p.Gln995*		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q995*	ENST00000382303.1	37	c.2983	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	C	48	13.956691	0.99772	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	.	.	.	5.53	5.53	0.82687	.	0.000000	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.8143	0.96560	0.0:1.0:0.0:0.0	.	.	.	.	X	995;18;995;837	.	ENSP00000371730:Q837X	Q	+	1	0	KANK1	721244	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.689000	0.84165	2.747000	0.94245	0.650000	0.86243	CAG	KANK1	-	NULL		0.408	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	C	NM_015158		731244	1	no_errors	ENST00000382297	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	731244	C	T	731244	4	4	114	1	0	0	0	0	0	1	0	0	7996	827	29	1	2997	1	KANK1	9	731244	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		731244	140482187	80	16998										
C9orf131	138724	genome.wustl.edu	37	chr9	35043829	35043829	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctgccagaactccagagagaGagttccctggaagatccatc	10	12	0	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:35043829G>C	ENST00000312292.5	+	2	1250	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.E353D|C9orf131_ENST00000354479.5_Missense_Mutation_p.E328D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	401										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCAGAGAGAGAGTTCCCTGG	0.537																																																	0													75	85	81					9																	35043829		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1203G>C	9.37:g.35043829G>C	ENSP00000308279:p.Glu401Asp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.E401D	ENST00000312292.5	37	c.1203	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590703	0.28357	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15834	2.4;2.39;2.4	5.27	-1.46	0.08800	.	1.146150	0.06421	N	0.722439	T	0.12220	0.0297	L	0.55481	1.735	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38672	-0.9650	10	0.10636	T	0.68	0.3127	1.0689	0.01617	0.2133:0.3762:0.1919:0.2186	.	401;328;353	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	D	353;328;401	ENSP00000393683:E353D;ENSP00000346472:E328D;ENSP00000308279:E401D	ENSP00000308279:E401D	E	+	3	2	C9orf131	35033829	0.000000	0.05858	0.000000	0.03702	0.450000	0.32258	-0.697000	0.05098	-0.119000	0.11830	-0.136000	0.14681	GAG	C9orf131	-	NULL		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	G	NM_203299		35043829	1	no_errors	ENST00000312292	ensembl	human	known	70_37	missense	SNP	0.000	C	C	35043829	G	C	35043829	3	2	114	1	0	0	0	0	1	0	0	0	2462	933	33	1	1225	1	C9orf131	9	35043829	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	34312585	35043829	106169602	81	16999										
NTRK2	4915	genome.wustl.edu	37	chr9	87325597	87325597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgctcctgtgacattatgtgGatcaagactctccaagaggc	10	10	2	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:87325597G>A	ENST00000323115.4	+	5	827	c.474G>A	c.(472-474)tgG>tgA	p.W158*	NTRK2_ENST00000376214.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000376208.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000359847.3_Nonsense_Mutation_p.W158*|NTRK2_ENST00000395882.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000376213.1_Nonsense_Mutation_p.W158*|NTRK2_ENST00000395866.2_Nonsense_Mutation_p.W2*|NTRK2_ENST00000304053.6_Nonsense_Mutation_p.W158*|NTRK2_ENST00000277120.3_Nonsense_Mutation_p.W158*			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	158	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.W158*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACATTATGTGGATCAAGACTC	0.433										TSP Lung(25;0.17)																																							2	Substitution - Nonsense(2)	pancreas(2)											139	122	128					9																	87325597		2203	4300	6503	SO:0001587	stop_gained	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.474G>A	9.37:g.87325597G>A	ENSP00000314586:p.Trp158*		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.W158*	ENST00000323115.4	37	c.474	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.225240	0.98714	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	.	.	.	X	158;158;158;158;158;158;158;158;2	.	ENSP00000277120:W158X	W	+	3	0	NTRK2	86515417	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.379000	0.73154	2.740000	0.93945	0.557000	0.71058	TGG	NTRK2	-	smart_Cys-rich_flank_reg_C		0.433	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	G			87325597	1	no_errors	ENST00000277120	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	87325597	G	A	87325597	4	1	114	1	0	0	0	0	0	1	0	0	10731	1183	41	1	492	1	NTRK2	9	87325597	Nonsense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	52281768	87325597	53887834	82	17000										
NOL8	55035	genome.wustl.edu	37	chr9	95063870	95063870	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtgtctgaatcaaaaaaagaGaacgtgaacccgctgggctg	12	8	2	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:95063870G>C	ENST00000535387.1	-	11	3023	c.3024C>G	c.(3022-3024)ttC>ttG	p.F1008L	NOL8_ENST00000358855.4_Missense_Mutation_p.F978L|NOL8_ENST00000545558.1_Missense_Mutation_p.F1046L|NOL8_ENST00000542053.1_Missense_Mutation_p.F978L|NOL8_ENST00000442668.2_Missense_Mutation_p.F1046L					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CAAAAAAAGAGAACGTGAACC	0.418																																																	0													51	49	49					9																	95063870		1867	4099	5966	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3024C>G	9.37:g.95063870G>C	ENSP00000441300:p.Phe1008Leu			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F1046L	ENST00000535387.1	37	c.3138	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269444	0.59540	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.18338	2.22;2.25;2.22;2.52;2.25	6.16	0.843	0.18935	.	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	M	0.74258	2.255	0.47037	D	0.999291	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.09773	-1.0659	10	0.62326	D	0.03	-12.5399	10.4223	0.44356	0.438:0.0:0.562:0.0	.	978;1046	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	L	1046;1010;978;1046;1008;978	ENSP00000401177:F1046L;ENSP00000351723:F978L;ENSP00000441140:F1046L;ENSP00000441300:F1008L;ENSP00000440709:F978L	ENSP00000351723:F978L	F	-	3	2	NOL8	94103691	1.000000	0.71417	0.984000	0.44739	0.179000	0.23085	2.116000	0.41930	0.140000	0.18849	0.650000	0.86243	TTC	NOL8	-	NULL		0.418	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95063870	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.998	C	C	95063870	G	C	95063870	3	2	114	1	0	0	0	0	1	0	0	0	10551	933	33	1	385	1	NOL8	9	95063870	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	7738273	95063870	46149561	83	17001										
ORM1	5004	genome.wustl.edu	37	chr9	117085984	117085984	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atcgcatcggcctttcgaaaCgaggagtacaataagtcggt	11	9	0	0	rs551088472		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:117085984C>T	ENST00000538816.1	+	1	608	c.571C>T	c.(571-573)Cga>Tga	p.R191*	ORM1_ENST00000259396.8_Silent_p.N52N			P02763	A1AG1_HUMAN	orosomucoid 1	0					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	CCTTTCGAAACGAGGAGTACA	0.498													C|||	1	0.000199681	0	0	5008	,	,		24481	0.001		0	False		,,,				2504	0																0													103	100	101					9																	117085984		2201	4297	6498	SO:0001587	stop_gained	5004				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000538816.1:c.571C>T	9.37:g.117085984C>T	ENSP00000442679:p.Arg191*		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Nonsense_Mutation	SNP	NULL	p.R191*	ENST00000538816.1	37	c.571		9	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793413	0.50102	.	.	ENSG00000229314	ENST00000538816	.	.	.	4.96	-9.91	0.00458	.	.	.	.	.	.	.	.	.	.	.	0.21740	A	0.000435606	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8959	2.1775	0.03865	0.2048:0.1803:0.404:0.2108	.	.	.	.	X	191	.	ENSP00000442679:R191X	R	+	1	2	ORM1	116125805	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.954000	0.00326	-1.645000	0.01515	-0.362000	0.07510	CGA	ORM1	-	NULL		0.498	ORM1-201	KNOWN	basic	protein_coding	ORM1	HGNC	protein_coding		C			117085984	1	no_errors	ENST00000538816	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	117085984	C	T	117085984	4	4	114	1	0	0	0	0	0	1	0	0	11291	535	19	2	162	2	ORM1	9	117085984	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	22022114	117085984	24127447	84	17002										
NUP188	23511	genome.wustl.edu	37	chr9	131747281	131747281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gcctttctgcgcttgatcacCacccttgtcaaggtacagtc	8	14	3	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:131747281C>T	ENST00000372577.2	+	20	2085	c.2064C>T	c.(2062-2064)acC>acT	p.T688T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	688					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTTGATCACCACCCTTGTCA	0.488											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													186	148	161					9																	131747281		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2064C>T	9.37:g.131747281C>T		1590	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.T688	ENST00000372577.2	37	c.2064	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188		0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131747281	1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	0.993	T	T	131747281	C	T	131747281	2	4	114	1	0	0	0	0	0	0	0	1	10782	581	21	4		4	NUP188	9	131747281	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	14661297	131747281	9466150	85	17003										
LAMC3	10319	genome.wustl.edu	37	chr9	133924412	133924412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtgtttgctgtctaggagccGaaggctggtgggccagaagt	17	7	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:133924412G>A	ENST00000361069.4	+	9	1658	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	509	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTAGGAGCCGAAGGCTGGTG	0.667																																																	0													20	22	21					9																	133924412		2091	4083	6174	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1525G>A	9.37:g.133924412G>A	ENSP00000354360:p.Glu509Lys		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E509K	ENST00000361069.4	37	c.1525	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087390	0.36855	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.29397	1.57	4.78	2.95	0.34219	Laminin B type IV (1);	0.566112	0.20245	N	0.096213	T	0.24084	0.0583	L	0.51422	1.61	0.09310	N	1	B	0.28783	0.222	B	0.23419	0.046	T	0.13045	-1.0524	10	0.32370	T	0.25	.	7.8284	0.29328	0.1887:0.0:0.8113:0.0	.	509	Q9Y6N6	LAMC3_HUMAN	K	509	ENSP00000354360:E509K	ENSP00000347156:E509K	E	+	1	0	LAMC3	132914233	0.000000	0.05858	0.001000	0.08648	0.884000	0.51177	0.409000	0.21082	0.758000	0.33059	-0.232000	0.12228	GAA	LAMC3	-	pfscan_Laminin_B_type_IV		0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133924412	1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.002	A	A	133924412	G	A	133924412	3	1	114	1	0	0	0	0	1	0	0	0	8636	1059	37	1	1559	1	LAMC3	9	133924412	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2177131	133924412	7289019	86	17004										
QSOX2	169714	genome.wustl.edu	37	chr9	139113694	139113694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gatcaggtaacacgaagggaCtgaagaaacaccaagtttct	10	8	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr9:139113694C>A	ENST00000358701.5	-	6	806	c.769G>T	c.(769-771)Gtc>Ttc	p.V257F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	257					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CACGAAGGGACTGAAGAAACA	0.547																																																	0													155	141	146					9																	139113694		2203	4300	6503	SO:0001583	missense	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.769G>T	9.37:g.139113694C>A	ENSP00000351536:p.Val257Phe		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.V257F	ENST00000358701.5	37	c.769	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580794	0.00879	.	.	ENSG00000165661	ENST00000358701	T	0.19105	2.17	4.65	0.482	0.16815	.	0.358681	0.28742	N	0.014286	T	0.10723	0.0262	L	0.31120	0.905	0.41530	D	0.988456	B	0.28667	0.219	B	0.25506	0.061	T	0.29488	-1.0010	10	0.02654	T	1	-5.4774	9.7356	0.40386	0.0:0.5214:0.4032:0.0754	.	257	Q6ZRP7	QSOX2_HUMAN	F	257	ENSP00000351536:V257F	ENSP00000351536:V257F	V	-	1	0	QSOX2	138253515	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.702000	0.05069	-0.107000	0.12088	0.655000	0.94253	GTC	QSOX2	-	NULL		0.547	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	C	NM_181701		139113694	-1	no_errors	ENST00000358701	ensembl	human	known	70_37	missense	SNP	0.601	A	A	139113694	C	A	139113694	3	1	114	1	0	0	0	0	1	0	0	0	12914	565	20	4	1355	4	QSOX2	9	139113694	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	5189282	139113694	2099737	87	17005										
MASTL	84930	genome.wustl.edu	37	chr10	27459156	27459156	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcagttaggtttccatcagtCaaatcagtgggctgtggatt	11	7	4	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr10:27459156C>T	ENST00000375940.4	+	8	1325	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.S423L|MASTL_ENST00000342386.6_Missense_Mutation_p.S423L			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCATCAGTCAAATCAGTGG	0.388																																																	0													68	73	72					10																	27459156		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1268C>T	10.37:g.27459156C>T	ENSP00000365107:p.Ser423Leu		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	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.S423L	ENST00000375940.4	37	c.1268	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213237	0.09757	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.79554	-1.28;-1.28;-1.28	5.93	4.1	0.47936	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.824143	0.11449	N	0.562957	T	0.79353	0.4431	M	0.69823	2.125	0.09310	N	1	B;B;B	0.19073	0.033;0.019;0.007	B;B;B	0.19391	0.025;0.012;0.006	T	0.69672	-0.5082	10	0.59425	D	0.04	-1.3645	9.3898	0.38365	0.0:0.8358:0.0:0.1642	.	423;423;423	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	L	423	ENSP00000365113:S423L;ENSP00000343446:S423L;ENSP00000365107:S423L	ENSP00000343446:S423L	S	+	2	0	MASTL	27499162	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.780000	0.26760	0.844000	0.35094	-0.140000	0.14226	TCA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.388	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27459156	1	no_errors	ENST00000375940	ensembl	human	known	70_37	missense	SNP	0.002	T	T	27459156	C	T	27459156	3	4	114	1	0	0	0	0	1	0	0	0	9351	838	29	1	1298	1	MASTL	10	27459156	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		27459156	108075591	88	17006										
ZNF37A	7587	genome.wustl.edu	37	chr10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgaatgtgggaaaaccttccGtcagaagtcagccctaattg	10	9	2	2	rs371302765		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr10:38407509G>A	ENST00000361085.5	+	7	1775	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R477H	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	59	58		1430,1430,1430	0.4	1	10		58	0,8600		0,0,4300	no	missense,missense,missense	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	477/562,477/562,477/562	38407509	1,13005	2203	4300	6503	SO:0001583	missense	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1430G>A	10.37:g.38407509G>A	ENSP00000354377:p.Arg477His		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R477H	ENST00000361085.5	37	c.1430	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060115	0.36373	2.27E-4	0.0	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18016	2.24;2.24	2.34	0.388	0.16264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	N	0.20766	0.605	0.09310	N	1	B	0.19200	0.034	B	0.13407	0.009	T	0.38824	-0.9643	9	0.20519	T	0.43	.	2.6961	0.05135	0.3289:0.258:0.4131:0.0	.	477	P17032	ZN37A_HUMAN	H	477	ENSP00000329141:R477H;ENSP00000354377:R477H	ENSP00000329141:R477H	R	+	2	0	ZNF37A	38447515	0.000000	0.05858	0.982000	0.44146	0.859000	0.49053	-2.016000	0.01446	0.323000	0.23307	-0.218000	0.12543	CGT	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	G	NM_003421		38407509	1	no_errors	ENST00000351773	ensembl	human	known	70_37	missense	SNP	0.027	A	A	38407509	G	A	38407509	3	1	114	1	0	0	0	0	1	0	0	0	17902	1145	40	2	1444	2	ZNF37A	10	38407509	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	10948353	38407509	97127238	89	17007										
RTKN2	219790	genome.wustl.edu	37	chr10	64022535	64022535	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aaggagtttccatattccttCtcgcattcgaatttctaagt	6	9	2	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr10:64022535C>T	ENST00000373789.3	-	2	202	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RTKN2_ENST00000395265.1_Missense_Mutation_p.E36K|RTKN2_ENST00000395260.3_Missense_Mutation_p.E36K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	36					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CATATTCCTTCTCGCATTCGA	0.343																																																	0													107	92	97					10																	64022535		2203	4300	6503	SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.106G>A	10.37:g.64022535C>T	ENSP00000362894:p.Glu36Lys		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E36K	ENST00000373789.3	37	c.106	CCDS7263.1	10	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703927	0.68501	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.42900	0.99;0.96;2.11	5.52	4.6	0.57074	.	0.092240	0.85682	D	0.000000	T	0.47116	0.1428	M	0.76574	2.34	0.47009	D	0.999289	B;B	0.23377	0.084;0.051	B;B	0.21917	0.037;0.016	T	0.49925	-0.8887	10	0.59425	D	0.04	21.9559	16.2625	0.82553	0.0:0.8667:0.1333:0.0	.	36;36	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	K	36	ENSP00000378682:E36K;ENSP00000362894:E36K;ENSP00000378678:E36K	ENSP00000362894:E36K	E	-	1	0	RTKN2	63692541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.077000	0.57598	1.424000	0.47217	0.655000	0.94253	GAA	RTKN2	-	superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.343	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	C	NM_145307		64022535	-1	no_errors	ENST00000373789	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64022535	C	T	64022535	3	4	114	1	0	0	0	0	1	0	0	0	13753	922	32	1	1767	1	RTKN2	10	64022535	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	25615026	64022535	71512212	90	17008										
DNHD1	144132	genome.wustl.edu	37	chr11	6567870	6567870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aaccgaagtgccagaagcctCgcagcctagctgccattgag	11	13	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:6567870C>T	ENST00000527990.2	+	19	5701	c.5701C>T	c.(5701-5703)Cgc>Tgc	p.R1901C	DNHD1_ENST00000254579.6_Missense_Mutation_p.R1901C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1901					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGAAGCCTCGCAGCCTAGC	0.582																																																	0													60	50	53					11																	6567870		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5701C>T	11.37:g.6567870C>T	ENSP00000436180:p.Arg1901Cys		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.R1901C	ENST00000527990.2	37	c.5701	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	6.678	0.493628	0.12702	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.27720	1.65;1.65	4.85	-3.41	0.04839	.	1.690420	0.02819	N	0.125295	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.29941	-0.9995	10	0.66056	D	0.02	.	6.6805	0.23117	0.0:0.4016:0.2855:0.3129	.	1901	Q96M86	DNHD1_HUMAN	C	1901;1901;192	ENSP00000254579:R1901C;ENSP00000436180:R1901C	ENSP00000254579:R1901C	R	+	1	0	DNHD1	6524446	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.859000	0.04277	-0.955000	0.03636	0.655000	0.94253	CGC	DNHD1	-	NULL		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6567870	1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.000	T	T	6567870	C	T	6567870	3	4	114	1	0	0	0	0	1	0	0	0	4678	884	31	1	5784	1	DNHD1	11	6567870	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		6567870	128438646	91	17009										
ANO5	203859	genome.wustl.edu	37	chr11	22257799	22257799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgctaaactctaacacttacTcatctgcctatccactccat	2	15	3	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:22257799T>C	ENST00000324559.8	+	8	1056	c.739T>C	c.(739-741)Tca>Cca	p.S247P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	247					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACTTACTCATCTGCCTA	0.393																																																	0													149	127	135					11																	22257799		2203	4300	6503	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.739T>C	11.37:g.22257799T>C	ENSP00000315371:p.Ser247Pro			Missense_Mutation	SNP	pfam_Anoctamin	p.S247P	ENST00000324559.8	37	c.739	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	T	9.978	1.227431	0.22542	.	.	ENSG00000171714	ENST00000324559	T	0.67698	-0.28	5.64	3.09	0.35607	.	0.533803	0.21353	N	0.075925	T	0.69993	0.3173	M	0.81497	2.545	0.09310	N	1	P	0.45474	0.859	P	0.46543	0.52	T	0.61247	-0.7101	10	0.31617	T	0.26	.	10.75	0.46203	0.3519:0.0:0.0:0.6481	.	247	Q75V66	ANO5_HUMAN	P	247	ENSP00000315371:S247P	ENSP00000315371:S247P	S	+	1	0	ANO5	22214375	0.067000	0.21026	0.198000	0.23420	0.335000	0.28730	1.067000	0.30616	1.018000	0.39521	0.455000	0.32223	TCA	ANO5	-	NULL		0.393	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	T	NM_213599		22257799	1	no_errors	ENST00000324559	ensembl	human	known	70_37	missense	SNP	0.014	C	C	22257799	T	C	22257799	3	2	114	1	0	0	0	0	1	0	0	0	700	1551	54	5	769	5	ANO5	11	22257799	Missense_Mutation	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	15689929	22257799	112748717	92	17010										
LIN7C	55327	genome.wustl.edu	37	chr11	27520959	27520959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tttgaggcccccatgtctatCagcaattccacctggaatta	7	12	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:27520959C>G	ENST00000278193.2	-	4	405	c.385G>C	c.(385-387)Gat>Cat	p.D129H	LIN7C_ENST00000524596.1_Missense_Mutation_p.D105H	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	129	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)	p.D129N(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCATGTCTATCAGCAATTCCA	0.413																																																	1	Substitution - Missense(1)	lung(1)											131	128	129					11																	27520959		2202	4299	6501	SO:0001583	missense	55327			AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"LIN-7 protein 3"	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.385G>C	11.37:g.27520959C>G	ENSP00000278193:p.Asp129His			Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.D129H	ENST00000278193.2	37	c.385	CCDS7864.1	11	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873587	0.72180	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.27890	1.64;1.64	6.01	6.01	0.97437	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.41492	1.28	0.80722	D	1	B;B	0.22080	0.005;0.064	B;B	0.32724	0.019;0.151	T	0.11616	-1.0580	10	0.72032	D	0.01	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	105;129	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	H	129;105	ENSP00000278193:D129H;ENSP00000435353:D105H	ENSP00000278193:D129H	D	-	1	0	LIN7C	27477535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAT	LIN7C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ		0.413	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7C	HGNC	protein_coding	OTTHUMT00000388311.2	C	NM_018362		27520959	-1	no_errors	ENST00000278193	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27520959	C	G	27520959	3	3	114	1	0	0	0	0	1	0	0	0	8833	826	29	1	216	1	LIN7C	11	27520959	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	5263160	27520959	107485557	93	17011										
C11orf41	25758	genome.wustl.edu	37	chr11	33667358	33667358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gctcccagccatccatcgacGaggtcaggcagcagatgcac	11	15	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:33667358G>A	ENST00000321505.4	+	16	4825	c.4645G>A	c.(4645-4647)Gag>Aag	p.E1549K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1555K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1549						integral component of membrane (GO:0016021)											ATCCATCGACGAGGTCAGGCA	0.637																																																	0													46	54	52					11																	33667358		2159	4245	6404	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4645G>A	11.37:g.33667358G>A	ENSP00000315295:p.Glu1549Lys		B0QYU0	Missense_Mutation	SNP	NULL	p.E1555K	ENST00000321505.4	37	c.4663	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	35	5.534701	0.96460	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	D	0.82815	0.5119	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	D	0.83720	0.0192	9	0.72032	D	0.01	-23.0952	19.8929	0.96937	0.0:0.0:1.0:0.0	.	1555	E9PAT2	.	K	1549;1555;1388	.	ENSP00000315295:E1549K	E	+	1	0	C11orf41	33623934	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.447000	0.97595	2.702000	0.92279	0.462000	0.41574	GAG	KIAA1549L	-	NULL		0.637	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33667358	1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33667358	G	A	33667358	3	1	114	1	0	0	0	0	1	0	0	0	1644	1059	37	1	4725	1	C11orf41	11	33667358	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	6146399	33667358	101339158	94	17012										
API5	8539	genome.wustl.edu	37	chr11	43350418	43350418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	taacagccaaactgaatgcaGaaaagctcaaagatttcaaa	6	8	2	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:43350418G>A	ENST00000531273.1	+	9	1241	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	Y_RNA_ENST00000516843.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.E357K|API5_ENST00000420461.2_Missense_Mutation_p.E314K|API5_ENST00000378852.3_Missense_Mutation_p.E368K|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Missense_Mutation_p.E368K			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	368					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACTGAATGCAGAAAAGCTCAA	0.408																																					Pancreas(1;98 122 5625 20895 49453)												0													68	64	65					11																	43350418		2203	4300	6503	SO:0001583	missense	8539			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1102G>A	11.37:g.43350418G>A	ENSP00000431391:p.Glu368Lys		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	pfam_API5,superfamily_ARM-type_fold	p.E368K	ENST00000531273.1	37	c.1102	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.579355	0.96565	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.52126	1.63	0.80722	D	1	D;D;D;P;P	0.65815	0.99;0.961;0.995;0.952;0.902	P;P;D;P;P	0.64506	0.87;0.764;0.926;0.652;0.52	T	0.29181	-1.0020	10	0.27082	T	0.32	-11.9011	19.973	0.97292	0.0:0.0:1.0:0.0	.	314;368;357;368;368	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	K	357;368;314;368;368;183	ENSP00000399341:E357K;ENSP00000431391:E368K;ENSP00000402540:E314K;ENSP00000368129:E368K;ENSP00000434462:E368K;ENSP00000436436:E183K	ENSP00000368129:E368K	E	+	1	0	API5	43306994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA	API5	-	pfam_API5,superfamily_ARM-type_fold		0.408	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	G	NM_006595		43350418	1	no_errors	ENST00000531273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43350418	G	A	43350418	3	1	114	1	0	0	0	0	1	0	0	0	773	943	33	1	1136	1	API5	11	43350418	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	9683060	43350418	91656098	95	17013										
OR8H2	390151	genome.wustl.edu	37	chr11	55873012	55873012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caacgtggtttccatgagcaGattgcatttctacgactcaa	8	10	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:55873012G>A	ENST00000313503.1	+	1	494	c.494G>A	c.(493-495)aGa>aAa	p.R165K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCCATGAGCAGATTGCATTTC	0.428										HNSCC(53;0.14)																																							0													251	225	234					11																	55873012		2201	4296	6497	SO:0001583	missense	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.494G>A	11.37:g.55873012G>A	ENSP00000323982:p.Arg165Lys		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165K	ENST00000313503.1	37	c.494	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	10.50	1.368710	0.24771	.	.	ENSG00000181767	ENST00000313503	T	0.00123	8.7	3.35	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.339874	0.25683	N	0.028996	T	0.00109	0.0003	L	0.42686	1.345	0.09310	N	1	B	0.17038	0.02	B	0.20577	0.03	T	0.40515	-0.9559	10	0.56958	D	0.05	.	3.8042	0.08770	0.3635:0.19:0.4465:0.0	.	165	Q8N162	OR8H2_HUMAN	K	165	ENSP00000323982:R165K	ENSP00000323982:R165K	R	+	2	0	OR8H2	55629588	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	-2.938000	0.00684	0.183000	0.20059	0.440000	0.28878	AGA	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	G	NM_001005200		55873012	1	no_errors	ENST00000313503	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55873012	G	A	55873012	3	1	114	1	0	0	0	0	1	0	0	0	11262	942	33	1	496	1	OR8H2	11	55873012	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	12522594	55873012	79133504	96	17014										
PATL1	219988	genome.wustl.edu	37	chr11	59421511	59421511	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	acggtgctgtggatggaggtGagttgtgtccggtctaaaca	16	6	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:59421511G>A	ENST00000300146.9	-	9	1150	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	356	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GGATGGAGGTGAGTTGTGTCC	0.418																																																	0													169	171	170					11																	59421511		2007	4173	6180	SO:0001583	missense	219988			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1066C>T	11.37:g.59421511G>A	ENSP00000300146:p.His356Tyr		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.H356Y	ENST00000300146.9	37	c.1066	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.068663	0.93950	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48201	0.82	5.75	5.75	0.90469	.	0.043943	0.85682	D	0.000000	T	0.53883	0.1824	L	0.28115	0.83	0.58432	D	0.999999	D;D	0.62365	0.989;0.991	D;D	0.76575	0.979;0.988	T	0.36962	-0.9726	10	0.06099	T	0.92	-15.216	19.5465	0.95299	0.0:0.0:1.0:0.0	.	326;356	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	Y	356;326	ENSP00000300146:H356Y	ENSP00000300146:H356Y	H	-	1	0	PATL1	59178087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.553000	0.90686	2.716000	0.92895	0.655000	0.94253	CAC	PATL1	-	pfam_Topo_II-assoc_PAT1		0.418	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	G	NM_152716		59421511	-1	no_errors	ENST00000300146	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59421511	G	A	59421511	3	1	114	1	0	0	0	0	1	0	0	0	11499	1290	45	1	1290	1	PATL1	11	59421511	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	3548499	59421511	75585005	97	17015										
SPTBN2	6712	genome.wustl.edu	37	chr11	66461714	66461714	+	Nonsense_Mutation	SNP	C	C	A													0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caaggccctgaacttctcctCcacggccctcgaggttctct							TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:66461714C>A	ENST00000533211.1	-	22	4730	c.4399G>T	c.(4399-4401)Gag>Tag	p.E1467*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.E1467*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.E1467*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1467					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AACTTCTCCTCCACGGCCCTC	0.647											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	61	62					11																	66461714		2200	4295	6495	SO:0001587	stop_gained	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4399G>T	11.37:g.66461714C>A	ENSP00000432568:p.Glu1467*	1092	O14872|O14873	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1467*	ENST00000533211.1	37	c.4399	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	42	9.485669	0.99184	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	4.63	4.63	0.57726	.	0.119371	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	.	.	.	X	1467	.	ENSP00000311489:E1467X	E	-	1	0	SPTBN2	66218290	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	4.778000	0.62368	2.397000	0.81536	0.563000	0.77884	GAG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66461714	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	66461714	C	A	66461714	4	1	114	1	0	0	0	0	0	1	0	0	15150	864	30	3	2841	3	SPTBN2	11	66461714	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	7040203	66461714	68544802	98	17016	92	2								
SPTBN2	6712	genome.wustl.edu	37	chr11	66461724	66461724	+	Silent	SNP	C	C	G													0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aacttctcctccacggccctCgaggttctctccacctcccc					rs558713638		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:66461724C>G	ENST00000533211.1	-	22	4720	c.4389G>C	c.(4387-4389)tcG>tcC	p.S1463S	SPTBN2_ENST00000309996.2_Silent_p.S1463S|SPTBN2_ENST00000529997.1_Silent_p.S1463S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1463					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCACGGCCCTCGAGGTTCTCT	0.662											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4389G>C	11.37:g.66461724C>G		1092	O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S1463	ENST00000533211.1	37	c.4389	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.662	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66461724	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	silent	SNP	0.000	G	G	66461724	C	G	66461724	2	3	114	1	0	0	0	0	0	0	0	1	15150	871	31	1		1	SPTBN2	11	66461724	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	10	66461724	68544792	99	17017	92	2								
C11orf51	25906	genome.wustl.edu	37	chr11	71821638	71821638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aggttgttgtctttctccgcGatgctttggagctgtgggca	14	8	2	0	rs539199138		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:71821638G>A	ENST00000227618.4	-	4	357	c.132C>T	c.(130-132)atC>atT	p.I44I	ANAPC15_ENST00000538393.1_Silent_p.I44I|ANAPC15_ENST00000545680.1_Silent_p.I44I|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000542531.1_Silent_p.I44I|ANAPC15_ENST00000535234.1_Silent_p.I44I|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538919.1_Silent_p.I44I|LRTOMT_ENST00000419228.1_3'UTR|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000535503.1_Silent_p.I44I|ANAPC15_ENST00000545944.1_Silent_p.I44I|ANAPC15_ENST00000543050.1_Silent_p.I44I|ANAPC15_ENST00000543587.1_Silent_p.I44I	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	44					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											CTTTCTCCGCGATGCTTTGGA	0.612													G|||	1	0.000199681	0	0	5008	,	,		18865	0		0	False		,,,				2504	0.001																0													108	95	99					11																	71821638		2200	4293	6493	SO:0001819	synonymous_variant	25906			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.132C>T	11.37:g.71821638G>A			G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	NULL	p.I44	ENST00000227618.4	37	c.132	CCDS8210.1	11																																																																																			ANAPC15	-	NULL		0.612	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC15	HGNC	protein_coding	OTTHUMT00000396695.1	G	NM_014042		71821638	-1	no_errors	ENST00000227618	ensembl	human	known	70_37	silent	SNP	0.748	A	A	71821638	G	A	71821638	2	1	114	1	0	0	0	0	0	0	0	1	1650	1048	37	1		1	C11orf51	11	71821638	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	5359914	71821638	63184878	100	17018										
DLG2	1740	genome.wustl.edu	37	chr11	84996344	84996344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctgtaaaacttgattggcttCttctatcttctgctcacaac	5	11	5	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:84996344C>T	ENST00000376104.2	-	4	417	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	DLG2_ENST00000543673.1_Missense_Mutation_p.E36K	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGATTGGCTTCTTCTATCTTC	0.358																																																	0													207	185	191					11																	84996344		1568	3581	5149	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.106G>A	11.37:g.84996344C>T	ENSP00000365272:p.Glu36Lys		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E36K	ENST00000376104.2	37	c.106	CCDS44690.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140705	0.77775	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.18502	2.21;2.21	5.88	5.88	0.94601	.	0.113565	0.34906	N	0.003586	T	0.36690	0.0976	L	0.46819	1.47	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.00367	-1.1785	9	.	.	.	.	19.8331	0.96643	0.0:1.0:0.0:0.0	.	36	Q15700-2	.	K	36	ENSP00000365272:E36K;ENSP00000441994:E36K	.	E	-	1	0	DLG2	84673992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.779000	0.95612	0.650000	0.86243	GAA	DLG2	-	pirsf_M-assoc_guanylate_kinase		0.358	DLG2-003	KNOWN	basic|CCDS	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259245.3	C	NM_001364		84996344	-1	no_errors	ENST00000376104	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84996344	C	T	84996344	3	4	114	1	0	0	0	0	1	0	0	0	4565	922	32	1	3126	1	DLG2	11	84996344	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	13174706	84996344	50010172	101	17019										
GRM5	2915	genome.wustl.edu	37	chr11	88300848	88300848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagccaggatccttgcaataCggttggtctttgttacaagg	11	9	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:88300848C>T	ENST00000305447.4	-	7	2152	c.2003G>A	c.(2002-2004)cGt>cAt	p.R668H	GRM5_ENST00000455756.2_Missense_Mutation_p.R668H|GRM5_ENST00000418177.2_Missense_Mutation_p.R668H|GRM5_ENST00000393297.1_Missense_Mutation_p.R668H|GRM5_ENST00000305432.5_Missense_Mutation_p.R668H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	668					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R668H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCTTGCAATACGGTTGGTCTT	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											174	159	164					11																	88300848		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2003G>A	11.37:g.88300848C>T	ENSP00000306138:p.Arg668His		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.R668H	ENST00000305447.4	37	c.2003	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791375	0.90367	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97029	0.9749	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	668;668	P41594-2;P41594	.;GRM5_HUMAN	H	668	ENSP00000402912:R668H;ENSP00000405690:R668H;ENSP00000305905:R668H;ENSP00000306138:R668H;ENSP00000376975:R668H	.	R	-	2	0	GRM5	87940496	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	CGT	GRM5	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	C	NM_000842		88300848	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88300848	C	T	88300848	3	4	114	1	0	0	0	0	1	0	0	0	6820	536	19	2	1647	2	GRM5	11	88300848	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	3304504	88300848	46705668	102	17020										
KIAA1826	84437	genome.wustl.edu	37	chr11	105881257	105881257	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tccacctgcatccctgaaatCtgccacattttgccagtcaa	5	15	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:105881257C>A	ENST00000301919.4	-	2	1803	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	130						nucleus (GO:0005634)											TCCCTGAAATCTGCCACATTT	0.453																																																	0													136	138	138					11																	105881257		2201	4299	6500	SO:0001583	missense	84437			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.388G>T	11.37:g.105881257C>A	ENSP00000304713:p.Asp130Tyr		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.D130Y	ENST00000301919.4	37	c.388	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147652	0.77888	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.58	5.58	0.84498	.	0.158974	0.53938	D	0.000050	T	0.76471	0.3992	L	0.51422	1.61	0.58432	D	0.999999	D	0.71674	0.998	D	0.77557	0.99	T	0.77253	-0.2656	9	0.87932	D	0	-5.4424	19.9173	0.97066	0.0:1.0:0.0:0.0	.	130	Q8NCY6	K1826_HUMAN	Y	130	.	ENSP00000304713:D130Y	D	-	1	0	KIAA1826	105386467	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.492000	0.73654	2.782000	0.95742	0.561000	0.74099	GAT	MSANTD4	-	NULL		0.453	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	C	NM_032424		105881257	-1	no_errors	ENST00000301919	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105881257	C	A	105881257	3	1	114	1	0	0	0	0	1	0	0	0	8280	913	32	3	657	3	KIAA1826	11	105881257	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	17580409	105881257	29125259	103	17021										
EXPH5	23086	genome.wustl.edu	37	chr11	108385575	108385575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agcttgcagactgttcctgaGccaatttgctatccaagtca	8	11	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:108385575G>A	ENST00000265843.4	-	6	769	c.659C>T	c.(658-660)gCt>gTt	p.A220V	EXPH5_ENST00000428840.1_Missense_Mutation_p.A144V|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.A32V|EXPH5_ENST00000525344.1_Missense_Mutation_p.A213V	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	220					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGTTCCTGAGCCAATTTGCT	0.373																																																	0													130	120	123					11																	108385575		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.659C>T	11.37:g.108385575G>A	ENSP00000265843:p.Ala220Val		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.A220V	ENST00000265843.4	37	c.659	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791391	0.90367	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.14144	3.09;3.0;2.86;3.09;2.84;2.53	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	T	0.40498	0.1119	M	0.71581	2.175	0.44966	D	0.997984	D	0.89917	1.0	D	0.87578	0.998	T	0.10019	-1.0648	10	0.72032	D	0.01	-18.3982	19.6019	0.95566	0.0:0.0:1.0:0.0	.	220	Q8NEV8	EXPH5_HUMAN	V	220;144;32;213;64;144;32	ENSP00000265843:A220V;ENSP00000391966:A144V;ENSP00000411390:A32V;ENSP00000432546:A213V;ENSP00000432683:A144V;ENSP00000446434:A32V	ENSP00000265843:A220V	A	-	2	0	EXPH5	107890785	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.407000	0.73280	2.723000	0.93209	0.655000	0.94253	GCT	EXPH5	-	NULL		0.373	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108385575	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108385575	G	A	108385575	3	1	114	1	0	0	0	0	1	0	0	0	5334	971	34	4	5314	4	EXPH5	11	108385575	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2504318	108385575	26620941	104	17022										
C11orf61	79684	genome.wustl.edu	37	chr11	124637698	124637698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gatccgtccttcaggcttctCagagttgaagtactcccgaa	9	12	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr11:124637698C>G	ENST00000374979.3	-	4	1062	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	MSANTD2_ENST00000526629.1_Missense_Mutation_p.E122Q|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000239614.4_Missense_Mutation_p.E300Q|RP11-677M14.3_ENST00000532579.1_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	352																	TCAGGCTTCTCAGAGTTGAAG	0.448																																																	0													60	64	63					11																	124637698		2201	4299	6500	SO:0001583	missense	79684			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 61"	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1054G>C	11.37:g.124637698C>G	ENSP00000364118:p.Glu352Gln		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.E352Q	ENST00000374979.3	37	c.1054		11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374583	0.82573	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.70479	-0.4860	9	0.87932	D	0	-14.5032	20.3495	0.98807	0.0:1.0:0.0:0.0	.	352;300	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	Q	300;352;122	.	ENSP00000239614:E300Q	E	-	1	0	C11orf61	124142908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.400000	0.79949	2.814000	0.96858	0.591000	0.81541	GAG	MSANTD2	-	NULL		0.448	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	C	NM_024631		124637698	-1	no_errors	ENST00000374979	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124637698	C	G	124637698	3	3	114	1	0	0	0	0	1	0	0	0	1657	835	29	1	629	1	C11orf61	11	124637698	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	16252123	124637698	10368818	105	17023										
ABCC9	10060	genome.wustl.edu	37	chr12	22061143	22061143	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agcagaatcacgcccattatGatctagagagaaaaacacat	7	9	2	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:22061143G>A	ENST00000261201.4	-	9	1322	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	ABCC9_ENST00000345162.2_Silent_p.I441I|ABCC9_ENST00000261200.4_Silent_p.I441I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	441	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CGCCCATTATGATCTAGAGAG	0.388																																																	0													50	47	48					12																	22061143		2203	4299	6502	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1323C>T	12.37:g.22061143G>A			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I441	ENST00000261201.4	37	c.1323	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	G	NM_005691		22061143	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22061143	G	A	22061143	2	1	114	1	0	0	0	0	0	0	0	1	59	1280	45	1		1	ABCC9	12	22061143	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		22061143	111790752	106	17024										
CNTN1	1272	genome.wustl.edu	37	chr12	41327645	41327645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgaggctgagaacattagagGaaaggataaacatcaagcaa	11	5	1	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:41327645G>A	ENST00000551295.2	+	9	1067	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CNTN1_ENST00000547849.1_Missense_Mutation_p.G317E|CNTN1_ENST00000347616.1_Missense_Mutation_p.G317E|CNTN1_ENST00000348761.2_Missense_Mutation_p.G306E|CNTN1_ENST00000360099.3_Missense_Mutation_p.G317E|CNTN1_ENST00000547702.1_Missense_Mutation_p.G317E	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	317	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AACATTAGAGGAAAGGATAAA	0.343																																																	0													84	85	85					12																	41327645		2203	4299	6502	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.950G>A	12.37:g.41327645G>A	ENSP00000447006:p.Gly317Glu		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G317E	ENST00000551295.2	37	c.950	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509468	0.85282	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.11	5.11	0.69529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90495	0.4470	10	0.87932	D	0	.	18.918	0.92513	0.0:0.0:1.0:0.0	.	317;306;317	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	E	317;317;317;317;317;306	ENSP00000448004:G317E;ENSP00000447006:G317E;ENSP00000448653:G317E;ENSP00000325660:G317E;ENSP00000353213:G317E;ENSP00000261160:G306E	ENSP00000325660:G317E	G	+	2	0	CNTN1	39613912	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.230000	0.95299	2.572000	0.86782	0.561000	0.74099	GGA	CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.343	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	G	NM_001843		41327645	1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41327645	G	A	41327645	3	1	114	1	0	0	0	0	1	0	0	0	3645	1174	41	1	980	1	CNTN1	12	41327645	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	19266502	41327645	92524250	107	17025										
CACNB3	784	genome.wustl.edu	37	chr12	49220781	49220781	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	catttgatgtgattctggatGagaaccagctggaggatgcc	13	7	1	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:49220781G>A	ENST00000301050.2	+	12	1214	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CACNB3_ENST00000540990.1_Missense_Mutation_p.E326K|CACNB3_ENST00000547392.1_Missense_Mutation_p.E312K|CACNB3_ENST00000536187.2_Missense_Mutation_p.E338K|CACNB3_ENST00000547230.1_Missense_Mutation_p.E298K	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	339					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GATTCTGGATGAGAACCAGCT	0.622																																																	0													108	110	109					12																	49220781		2203	4300	6503	SO:0001583	missense	784				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1015G>A	12.37:g.49220781G>A	ENSP00000301050:p.Glu339Lys		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.E339K	ENST00000301050.2	37	c.1015	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.642125	0.96704	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.61	5.61	0.85477	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.044965	0.85682	D	0.000000	D	0.92185	0.7522	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;1.0	D;D;D;D	0.85130	0.988;0.995;0.997;0.997	D	0.92672	0.6151	10	0.62326	D	0.03	-24.661	18.3993	0.90510	0.0:0.0:1.0:0.0	.	338;326;339;326	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	K	326;338;312;339;298	ENSP00000445495:E326K;ENSP00000444160:E338K;ENSP00000446529:E312K;ENSP00000301050:E339K;ENSP00000448304:E298K	ENSP00000301050:E339K	E	+	1	0	CACNB3	47507048	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.725000	0.98778	2.656000	0.90262	0.655000	0.94253	GAG	CACNB3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel		0.622	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	G			49220781	1	no_errors	ENST00000301050	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49220781	G	A	49220781	3	1	114	1	0	0	0	0	1	0	0	0	2559	1291	45	1	1061	1	CACNB3	12	49220781	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	7893136	49220781	84631114	108	17026										
KRT5	3852	genome.wustl.edu	37	chr12	52914024	52914024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gacggggtgatggcagaggcGgtgctgaagctacgactgcc	18	9	0	3	rs529397720		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:52914024G>A	ENST00000252242.4	-	1	447	c.57C>T	c.(55-57)acC>acT	p.T19T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	19	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAGAGGCGGTGCTGAAGC	0.657													G|||	1	0.000199681	0	0	5008	,	,		16268	0		0	False		,,,				2504	0.001																0													23	28	26					12																	52914024		2201	4300	6501	SO:0001819	synonymous_variant	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.57C>T	12.37:g.52914024G>A			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T19	ENST00000252242.4	37	c.57	CCDS8830.1	12																																																																																			KRT5	-	NULL		0.657	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	G			52914024	-1	no_errors	ENST00000252242	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52914024	G	A	52914024	2	1	114	1	0	0	0	0	0	0	0	1	8499	1103	39	2		2	KRT5	12	52914024	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	3693243	52914024	80937871	109	17027										
STAT2	6773	genome.wustl.edu	37	chr12	56748582	56748582	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctttctccttttgtccagttCattgagagtttcctgcagaa	7	10	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:56748582C>G	ENST00000314128.4	-	7	636	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	STAT2_ENST00000557235.1_Missense_Mutation_p.E201Q|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.E201Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	205					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTGTCCAGTTCATTGAGAGTT	0.537																																																	0													229	224	226					12																	56748582		2203	4300	6503	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.613G>C	12.37:g.56748582C>G	ENSP00000315768:p.Glu205Gln		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.E205Q	ENST00000314128.4	37	c.613	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452093	0.26074	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.59772	0.24;0.24;0.24	4.69	3.78	0.43462	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.735961	0.13517	N	0.381979	T	0.63977	0.2557	L	0.55481	1.735	0.26921	N	0.966674	B;B;D	0.63046	0.171;0.253;0.992	B;B;P	0.61477	0.119;0.103;0.889	T	0.52328	-0.8590	10	0.15499	T	0.54	-6.6918	9.35	0.38131	0.0:0.9001:0.0:0.0999	.	201;201;205	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	Q	205;201;201	ENSP00000315768:E205Q;ENSP00000450751:E201Q;ENSP00000387354:E201Q	ENSP00000315768:E205Q	E	-	1	0	STAT2	55034849	0.866000	0.29940	1.000000	0.80357	0.925000	0.55904	0.465000	0.22004	1.315000	0.45114	0.591000	0.81541	GAA	STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.537	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56748582	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56748582	C	G	56748582	3	3	114	1	0	0	0	0	1	0	0	0	15295	835	29	1	2014	1	STAT2	12	56748582	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	3834558	56748582	77103313	110	17028										
NAV3	89795	genome.wustl.edu	37	chr12	78444704	78444704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccctgggtgctggctatcctCgcagtggtaccagtcgattc	12	13	0	0	rs572701178		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:78444704C>T	ENST00000397909.2	+	11	2466	c.2293C>T	c.(2293-2295)Cgc>Tgc	p.R765C	NAV3_ENST00000536525.2_Missense_Mutation_p.R765C|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.R765C|NAV3_ENST00000228327.6_Missense_Mutation_p.R765C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	765						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCTATCCTCGCAGTGGTAC	0.592										HNSCC(70;0.22)																																							0													67	68	68					12																	78444704		2039	4197	6236	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2293C>T	12.37:g.78444704C>T	ENSP00000381007:p.Arg765Cys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R765C	ENST00000397909.2	37	c.2293		12	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812193	0.70797	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.79	4.83	0.62350	.	0.000000	0.36066	U	0.002815	T	0.33265	0.0857	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.67725	0.932;0.676;0.953	T	0.01697	-1.1293	10	0.66056	D	0.02	-14.1261	16.822	0.85748	0.1544:0.8456:0.0:0.0	.	765;765;765	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	C	765	ENSP00000446132:R765C;ENSP00000381007:R765C;ENSP00000228327:R765C;ENSP00000266692:R765C	ENSP00000228327:R765C	R	+	1	0	NAV3	76968835	0.985000	0.35326	0.959000	0.39883	0.703000	0.40648	2.828000	0.48120	2.735000	0.93741	0.655000	0.94253	CGC	NAV3	-	NULL		0.592	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78444704	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	0.998	T	T	78444704	C	T	78444704	3	4	114	1	0	0	0	0	1	0	0	0	10208	884	31	1	2335	1	NAV3	12	78444704	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	21696122	78444704	55407191	111	17029										
IFT81	28981	genome.wustl.edu	37	chr12	110565221	110565221	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aaattcattatggacagtctCaataaggagccctttaggaa	8	7	2	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:110565221C>G	ENST00000242591.5	+	2	542	c.36C>G	c.(34-36)ctC>ctG	p.L12L	IFT81_ENST00000552912.1_Silent_p.L12L|IFT81_ENST00000361948.4_Silent_p.L12L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	12	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TGGACAGTCTCAATAAGGAGC	0.313																																																	0													40	39	40					12																	110565221		2203	4300	6503	SO:0001819	synonymous_variant	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.36C>G	12.37:g.110565221C>G			Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Silent	SNP	NULL	p.L12	ENST00000242591.5	37	c.36	CCDS41831.1	12																																																																																			IFT81	-	NULL		0.313	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	C	NM_014055		110565221	1	no_errors	ENST00000242591	ensembl	human	known	70_37	silent	SNP	1.000	G	G	110565221	C	G	110565221	2	3	114	1	0	0	0	0	0	0	0	1	7585	813	29	1		1	IFT81	12	110565221	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	32120517	110565221	23286674	112	17030										
GPR133	283383	genome.wustl.edu	37	chr12	131471836	131471836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggtgctttcgatgagttcatCatctgggagcgggctctgac	14	9	4	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr12:131471836C>T	ENST00000261654.5	+	6	1246	c.687C>T	c.(685-687)atC>atT	p.I229I	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.I261I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	229					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I229I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGAGTTCATCATCTGGGAGC	0.542																																																	1	Substitution - coding silent(1)	lung(1)											142	131	135					12																	131471836		2203	4300	6503	SO:0001819	synonymous_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.687C>T	12.37:g.131471836C>T			B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I229	ENST00000261654.5	37	c.687	CCDS9272.1	12																																																																																			GPR133	-	superfamily_ConA-like_lec_gl_sf		0.542	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	C	NM_198827		131471836	1	no_errors	ENST00000261654	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131471836	C	T	131471836	2	4	114	1	0	0	0	0	0	0	0	1	6662	816	29	1		1	GPR133	12	131471836	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	20906615	131471836	2380059	113	17031										
N4BP2L1	90634	genome.wustl.edu	37	chr13	33002135	33002135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aggaggtgtcccccgcggggGcggccggggcggccgctgcc	21	15	0	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:33002135G>T	ENST00000380133.2	-	1	135	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	RP11-298P3.4_ENST00000461502.1_RNA|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.P29T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.P29T			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	29										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		ccccgcgggggcggccggggc	0.672																																																	0													11	14	13					13																	33002135		1819	4008	5827	SO:0001583	missense	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.85C>A	13.37:g.33002135G>T	ENSP00000369476:p.Pro29Thr		A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.P29T	ENST00000380133.2	37	c.85	CCDS9345.2	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.471865|2.471865	0.43942|0.43942	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000343281|ENST00000380130;ENST00000380139;ENST00000380133	.|.	.|.	.|.	3.38|3.38	3.38|3.38	0.38709|0.38709	.|.	.|2.175850	.|0.02461	.|N	.|0.086557	T|T	0.51991|0.51991	0.1707|0.1707	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.994;0.99;0.983	.|P;P;P	.|0.57324	.|0.736;0.818;0.637	T|T	0.60110|0.60110	-0.7327|-0.7327	5|9	.|0.13108	.|T	.|0.6	.|.	6.4859|6.4859	0.22089|0.22089	0.1356:0.0:0.8644:0.0|0.1356:0.0:0.8644:0.0	.|.	.|6;29;29	.|Q5TBJ9;Q5TBK1-2;Q5TBK1	.|.;.;N42L1_HUMAN	D|T	6|29	.|.	.|ENSP00000369473:P29T	A|P	-|-	2|1	0|0	N4BP2L1|N4BP2L1	31900135|31900135	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	0.609000|0.609000	0.24238|0.24238	1.720000|1.720000	0.51447|0.51447	0.556000|0.556000	0.70494|0.70494	GCC|CCC	N4BP2L1	-	NULL		0.672	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	G	NM_052818		33002135	-1	no_errors	ENST00000380130	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33002135	G	T	33002135	3	4	114	1	0	0	0	0	1	0	0	0	10134	1203	42	4	739	4	N4BP2L1	13	33002135	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		33002135	82167743	114	17032										
CCNA1	8900	genome.wustl.edu	37	chr13	37014270	37014270	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccaccaaccagtttctccttCagtacttgaggcgacaagga	8	13	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:37014270C>T	ENST00000255465.4	+	6	1312	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	CCNA1_ENST00000418263.1_Nonsense_Mutation_p.Q349*|CCNA1_ENST00000440264.1_Nonsense_Mutation_p.Q306*|CCNA1_ENST00000449823.1_Nonsense_Mutation_p.Q306*			P78396	CCNA1_HUMAN	cyclin A1	350					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTTTCTCCTTCAGTACTTGAG	0.453																																																	0													155	153	154					13																	37014270		2203	4300	6503	SO:0001587	stop_gained	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1048C>T	13.37:g.37014270C>T	ENSP00000255465:p.Gln350*		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Nonsense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Q350*	ENST00000255465.4	37	c.1048	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	C	41	9.016514	0.99037	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.59	5.59	0.84812	.	0.053759	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9502	0.97197	0.0:1.0:0.0:0.0	.	.	.	.	X	306;306;349;350	.	ENSP00000255465:Q350X	Q	+	1	0	CCNA1	35912270	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.538000	0.82048	2.781000	0.95711	0.555000	0.69702	CAG	CCNA1	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E		0.453	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	C	NM_003914		37014270	1	no_errors	ENST00000255465	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	37014270	C	T	37014270	4	4	114	1	0	0	0	0	0	1	0	0	2914	827	29	1	1070	1	CCNA1	13	37014270	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	4012135	37014270	78155608	115	17033										
PCDH17	27253	genome.wustl.edu	37	chr13	58208055	58208055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcaactccaccaagtcgttcGcgatcaagattctagacgag	8	12	3	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:58208055G>A	ENST00000377918.3	+	1	1401	c.1375G>A	c.(1375-1377)Gcg>Acg	p.A459T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGTCGTTCGCGATCAAGAT	0.607																																					Melanoma(72;952 1291 1619 12849 33676)												0													52	42	45					13																	58208055		2202	4300	6502	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1375G>A	13.37:g.58208055G>A	ENSP00000367151:p.Ala459Thr		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A459T	ENST00000377918.3	37	c.1375	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	1.510	-0.549707	0.03996	.	.	ENSG00000118946	ENST00000377918	T	0.44881	0.91	5.58	3.59	0.41128	Cadherin (5);Cadherin-like (1);	0.245807	0.48767	D	0.000178	T	0.12263	0.0298	N	0.00683	-1.26	0.37860	D	0.929692	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.10064	-1.0646	9	.	.	.	.	8.3819	0.32477	0.082:0.0:0.4926:0.4254	.	459;459	O14917-2;O14917	.;PCD17_HUMAN	T	459	ENSP00000367151:A459T	.	A	+	1	0	PCDH17	57106056	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	2.595000	0.46197	1.298000	0.44778	0.561000	0.74099	GCG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	G	NM_001040429		58208055	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58208055	G	A	58208055	3	1	114	1	0	0	0	0	1	0	0	0	11536	1087	38	2	1377	2	PCDH17	13	58208055	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	21193785	58208055	56961823	116	17034										
PCDH17	27253	genome.wustl.edu	37	chr13	58298883	58298883	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atctctttgtacctacagttGaagctaatgttgagactgag	9	7	1	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr13:58298883G>A	ENST00000377918.3	+	4	2961	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	979					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCTACAGTTGAAGCTAATGT	0.438																																					Melanoma(72;952 1291 1619 12849 33676)												0													104	97	100					13																	58298883		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2935G>A	13.37:g.58298883G>A	ENSP00000367151:p.Glu979Lys		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E979K	ENST00000377918.3	37	c.2935	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221663	0.58560	.	.	ENSG00000118946	ENST00000377918	T	0.58652	0.32	6.07	6.07	0.98685	.	0.105793	0.64402	D	0.000004	T	0.70605	0.3243	L	0.49126	1.545	0.80722	D	1	D	0.61080	0.989	P	0.61592	0.891	T	0.65059	-0.6260	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	979	O14917	PCD17_HUMAN	K	979	ENSP00000367151:E979K	.	E	+	1	0	PCDH17	57196884	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA	PCDH17	-	NULL		0.438	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	G	NM_001040429		58298883	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58298883	G	A	58298883	3	1	114	1	0	0	0	0	1	0	0	0	11536	1291	45	1	2949	1	PCDH17	13	58298883	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	90828	58298883	56870995	117	17035										
OR4E2	26686	genome.wustl.edu	37	chr14	22133660	22133660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgatcattgtggcgtatgatCgttacgtggctatctgcact	11	8	2	2	rs201192739		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:22133660C>G	ENST00000408935.1	+	1	364	c.364C>G	c.(364-366)Cgt>Ggt	p.R122G		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468																																																	0													208	193	198					14																	22133660		2052	4213	6265	SO:0001583	missense	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.364C>G	14.37:g.22133660C>G	ENSP00000386195:p.Arg122Gly		Q6IET6|Q96R62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122G	ENST00000408935.1	37	c.364	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141485	0.57044	.	.	ENSG00000221977	ENST00000408935	T	0.77620	-1.11	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001518	D	0.92218	0.7532	H	0.96777	3.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.94456	0.7672	10	0.87932	D	0	.	17.0923	0.86625	0.0:1.0:0.0:0.0	.	122	Q8NGC2	OR4E2_HUMAN	G	122	ENSP00000386195:R122G	ENSP00000386195:R122G	R	+	1	0	OR4E2	21203500	0.997000	0.39634	0.997000	0.53966	0.203000	0.24098	3.144000	0.50616	2.639000	0.89480	0.585000	0.79938	CGT	OR4E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	C			22133660	1	no_errors	ENST00000408935	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22133660	C	G	22133660	3	3	114	1	0	0	0	0	1	0	0	0	11084	884	31	1	366	1	OR4E2	14	22133660	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		22133660	85215880	118	17036										
NYNRIN	57523	genome.wustl.edu	37	chr14	24884524	24884524	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gcaccccatagcctatacctCaaaacccctcctccctgatg	4	19	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:24884524C>G	ENST00000382554.3	+	9	3887	c.3569C>G	c.(3568-3570)tCa>tGa	p.S1190*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1190					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCTATACCTCAAAACCCCTC	0.632																																																	0													70	77	75					14																	24884524		1956	4133	6089	SO:0001587	stop_gained	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3569C>G	14.37:g.24884524C>G	ENSP00000371994:p.Ser1190*		Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.S1190*	ENST00000382554.3	37	c.3569	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	43	10.085285	0.99333	.	.	ENSG00000205978	ENST00000382554	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7777	0.57457	0.0:1.0:0.0:0.0	.	.	.	.	X	1190	.	ENSP00000371994:S1190X	S	+	2	0	NYNRIN	23954364	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	4.894000	0.63206	2.371000	0.80710	0.655000	0.94253	TCA	NYNRIN	-	NULL		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24884524	1	no_errors	ENST00000382554	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	24884524	C	G	24884524	4	3	114	1	0	0	0	0	0	1	0	0	10820	838	29	1	3599	1	NYNRIN	14	24884524	Nonsense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	2750864	24884524	82465016	119	17037										
C14orf37	145407	genome.wustl.edu	37	chr14	58604809	58604809	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	catcgttttccttggtggatTccgtgaagtctcccgtactt	9	11	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:58604809T>A	ENST00000267485.7	-	2	1462	c.1268A>T	c.(1267-1269)gAa>gTa	p.E423V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	423						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTGGTGGATTCCGTGAAGTC	0.433																																																	0													88	87	87					14																	58604809		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1268A>T	14.37:g.58604809T>A	ENSP00000267485:p.Glu423Val		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.E423V	ENST00000267485.7	37	c.1268	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656961	0.29425	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.18174	2.23	5.56	-1.09	0.09904	.	0.727704	0.12879	N	0.431604	T	0.09555	0.0235	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.29988	0.264;0.264;0.264;0.264	B;B;B;B	0.27715	0.05;0.082;0.05;0.05	T	0.28299	-1.0048	10	0.28530	T	0.3	-0.5967	0.4485	0.00497	0.2181:0.2683:0.1501:0.3634	.	461;423;423;423	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	423;461	ENSP00000267485:E423V	ENSP00000267485:E423V	E	-	2	0	C14orf37	57674562	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.231000	0.17872	0.137000	0.18759	0.533000	0.62120	GAA	C14orf37	-	NULL		0.433	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	T	NM_001001872		58604809	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.002	A	A	58604809	T	A	58604809	3	1	114	1	0	0	0	0	1	0	0	0	1775	1783	62	5	1084	5	C14orf37	14	58604809	Missense_Mutation	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	33720285	58604809	48744731	120	17038										
KIAA0284	283638	genome.wustl.edu	37	chr14	105350257	105350257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gggtgcccttggaggccagcGgggagcaggtgcggctgcag	21	10	0	0	rs375604191		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr14:105350257G>A	ENST00000414716.3	+	9	1369	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R	CEP170B_ENST00000453495.1_Missense_Mutation_p.G382R|CEP170B_ENST00000556508.1_Missense_Mutation_p.G311R|CEP170B_ENST00000418279.1_Missense_Mutation_p.G311R	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	381						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAGGCCAGCGGGGAGCAGGT	0.662																																																	0								G	ARG/GLY,ARG/GLY	0,3924		0,0,1962	13	17	16		1141,931	4.1	0.9	14		16	3,8303		0,3,4150	no	missense,missense	KIAA0284	NM_001112726.2,NM_015005.2	125,125	0,3,6112	AA,AG,GG		0.0361,0.0,0.0245	probably-damaging,probably-damaging	381/1555,311/1520	105350257	3,12227	1962	4153	6115	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1141G>A	14.37:g.105350257G>A	ENSP00000404151:p.Gly381Arg		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.G382R	ENST00000414716.3	37	c.1144	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909223	0.33721	0.0	3.61E-4	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000556215	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.12	4.12	0.48240	.	0.664107	0.13586	N	0.376976	T	0.31358	0.0794	L	0.47716	1.5	0.28664	N	0.90595	D;D;D	0.64830	0.994;0.993;0.985	P;P;P	0.56216	0.681;0.794;0.695	T	0.05733	-1.0867	10	0.33940	T	0.23	-18.7774	11.8569	0.52441	0.0:0.0:1.0:0.0	.	381;381;311	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	R	311;381;382;311;101	ENSP00000451249:G311R;ENSP00000404151:G381R;ENSP00000407238:G382R;ENSP00000415006:G311R	ENSP00000404151:G381R	G	+	1	0	KIAA0284	104421302	0.862000	0.29867	0.910000	0.35882	0.247000	0.25773	3.048000	0.49862	1.840000	0.53500	0.491000	0.48974	GGG	KIAA0284	-	NULL		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0284	HGNC	protein_coding	OTTHUMT00000410289.2	G	NM_001112726		105350257	1	no_errors	ENST00000453495	ensembl	human	known	70_37	missense	SNP	0.862	A	A	105350257	G	A	105350257	3	1	114	1	0	0	0	0	1	0	0	0	8186	1116	39	2	1171	2	KIAA0284	14	105350257	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	46745448	105350257	1999283	121	17039										
MAGEL2	54551	genome.wustl.edu	37	chr15	23890640	23890640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagaaggtggcagcaaagatCatgcggtcttttgaaggggc	15	7	2	3			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr15:23890640C>T	ENST00000532292.1	-	1	535	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	30					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGCAAAGATCATGCGGTCTT	0.597																																																	0													35	39	38					15																	23890640		1983	4152	6135	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.441G>A	15.37:g.23890640C>T	ENSP00000433433:p.Met147Ile			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.M147I	ENST00000532292.1	37	c.441		15																																																																																			MAGEL2	-	NULL		0.597	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23890640	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.998	T	T	23890640	C	T	23890640	3	4	114	1	0	0	0	0	1	0	0	0	9212	826	29	1	1503	1	MAGEL2	15	23890640	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		23890640	78640752	122	17040										
TSC2	7249	genome.wustl.edu	37	chr16	2131603	2131603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gccgcctccgcagggaacacCagctggctgatgagcctgga	14	14	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:2131603C>T	ENST00000219476.3	+	31	4248	c.3618C>T	c.(3616-3618)acC>acT	p.T1206T	TSC2_ENST00000439673.2_Silent_p.T1126T|TSC2_ENST00000568454.1_Silent_p.T1173T|TSC2_ENST00000401874.2_Silent_p.T1162T|TSC2_ENST00000353929.4_Silent_p.T1163T|TSC2_ENST00000382538.6_Silent_p.T1114T|TSC2_ENST00000350773.4_Silent_p.T1206T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1206					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGAACACCAGCTGGCTGA	0.647			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													79	68	72					16																	2131603		2198	4294	6492	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3618C>T	16.37:g.2131603C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.T1206	ENST00000219476.3	37	c.3618	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2131603	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.989	T	T	2131603	C	T	2131603	2	4	114	1	0	0	0	0	0	0	0	1	16637	581	21	4		4	TSC2	16	2131603	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		2131603	88223150	123	17041										
FAM96B	51647	genome.wustl.edu	37	chr16	66966114	66966114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caaaggccaggctcaggagcGggctgacaggcactgattca	14	11	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:66966114G>A	ENST00000422424.2	-	5	519	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	CES2_ENST00000417689.1_5'Flank|CES2_ENST00000317091.4_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	162					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCTCAGGAGCGGGCTGACAGG	0.557																																																	0													47	53	51					16																	66966114		1985	4165	6150	SO:0001583	missense	51647				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.484C>T	16.37:g.66966114G>A	ENSP00000387471:p.Arg162Cys			Missense_Mutation	SNP	pfam_DUF59	p.R162C	ENST00000422424.2	37	c.484	CCDS45506.1	16	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636644	0.47049	.	.	ENSG00000166595	ENST00000422424	.	.	.	5.52	4.56	0.56223	.	0.107325	0.64402	D	0.000008	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	B	0.27594	0.182	B	0.14023	0.01	T	0.47249	-0.9132	9	0.72032	D	0.01	-9.1218	12.509	0.55997	0.0:0.0:0.697:0.303	.	162	Q9Y3D0	MIP18_HUMAN	C	162	.	ENSP00000387471:R162C	R	-	1	0	FAM96B	65523615	1.000000	0.71417	0.965000	0.40720	0.762000	0.43233	2.865000	0.48412	1.551000	0.49450	0.563000	0.77884	CGC	FAM96B	-	NULL		0.557	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	FAM96B	HGNC	protein_coding	OTTHUMT00000429890.1	G	NM_016062		66966114	-1	no_errors	ENST00000422424	ensembl	human	known	70_37	missense	SNP	0.980	A	A	66966114	G	A	66966114	3	1	114	1	0	0	0	0	1	0	0	0	5673	1116	39	2	11	2	FAM96B	16	66966114	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	64834511	66966114	23388639	124	17042										
FBXL8	55336	genome.wustl.edu	37	chr16	67197223	67197223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtttgtcgcacgccatcctcGaagcactggcggcgccagac	12	15	0	1	rs375713237		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:67197223G>C	ENST00000258200.3	+	3	802	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	HSF4_ENST00000584272.1_5'Flank|HSF4_ENST00000421453.1_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.E209Q|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000264009.8_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	209										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGCCATCCTCGAAGCACTGGC	0.711																																																	0													6	6	6					16																	67197223		2130	4176	6306	SO:0001583	missense	55336			AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"F-boxes / Leucine-rich repeats"	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.625G>C	16.37:g.67197223G>C	ENSP00000258200:p.Glu209Gln		Q9NUM0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E209Q	ENST00000258200.3	37	c.625	CCDS10831.1	16	.	.	.	.	.	.	.	.	.	.	G	0.330	-0.956783	0.02267	.	.	ENSG00000135722	ENST00000258200;ENST00000519917	.	.	.	4.4	2.35	0.29111	.	0.559213	0.15891	N	0.239564	T	0.26882	0.0658	L	0.33485	1.01	0.09310	N	0.999995	B	0.10296	0.003	B	0.08055	0.003	T	0.23940	-1.0174	9	0.12430	T	0.62	-6.6224	8.0835	0.30758	0.0931:0.5193:0.3876:0.0	.	209	Q96CD0	FBXL8_HUMAN	Q	209	.	ENSP00000258200:E209Q	E	+	1	0	FBXL8	65754724	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	0.667000	0.25112	0.445000	0.26639	0.462000	0.41574	GAA	FBXL8	-	NULL		0.711	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL8	HGNC	protein_coding	OTTHUMT00000268834.2	G			67197223	1	no_errors	ENST00000258200	ensembl	human	known	70_37	missense	SNP	0.000	C	C	67197223	G	C	67197223	3	2	114	1	0	0	0	0	1	0	0	0	5743	1059	37	1	631	1	FBXL8	16	67197223	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	231109	67197223	23157530	125	17043										
COG4	197258	genome.wustl.edu	37	chr16	70516653	70516653	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcctcgatgttgtgggagacGgagaaaaagctgttgatcca	13	7	0	3	rs554213038		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:70516653G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.S633S	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGTGGGAGACGGAGAAAAAGC	0.582																																																	0													283	198	227					16																	70516653		2198	4300	6498	SO:0001628	intergenic_variant	25839				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70516653G>A			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.S633	ENST00000288078.6	37	c.1899	CCDS10891.2	16																																																																																			COG4	-	NULL		0.582	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000157291.2	G	NM_145059		70516653	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	silent	SNP	0.343	A	A	70516653	G	A	70516653	1	1	114	0	1	0	0	0	0	0	0	0	3665	1103	39	2		2	COG4	16	70516653	IGR	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	3319430	70516653	19838100	126	17044										
MBTPS1	8720	genome.wustl.edu	37	chr16	84102009	84102009	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctacaaagtagcccatgcttCtcagatgctggtacatatcc	7	12	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr16:84102009C>T	ENST00000343411.3	-	15	2501	c.2006G>A	c.(2005-2007)aGa>aAa	p.R669K	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	669					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCCATGCTTCTCAGATGCTG	0.468																																																	0													122	117	119					16																	84102009		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2006G>A	16.37:g.84102009C>T	ENSP00000344223:p.Arg669Lys		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.R669K	ENST00000343411.3	37	c.2006	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.006682	0.97195	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.36520	1.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.70741	-0.4789	10	0.72032	D	0.01	-17.463	19.4403	0.94817	0.0:1.0:0.0:0.0	.	669	Q14703	MBTP1_HUMAN	K	669;114	ENSP00000344223:R669K	ENSP00000344223:R669K	R	-	2	0	MBTPS1	82659510	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	7.736000	0.84948	2.586000	0.87340	0.561000	0.74099	AGA	MBTPS1	-	NULL		0.468	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84102009	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84102009	C	T	84102009	3	4	114	1	0	0	0	0	1	0	0	0	9384	913	32	1	1188	1	MBTPS1	16	84102009	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	13585356	84102009	6252744	127	17045										
CHD3	1107	genome.wustl.edu	37	chr17	7792996	7792996	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcaaagataaggatgacattCggctgctgccgtcagcattg	11	9	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:7792996C>G	ENST00000330494.7	+	2	265	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	CHD3_ENST00000380358.4_Missense_Mutation_p.R98G|CHD3_ENST00000358181.4_Missense_Mutation_p.R39G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	39					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGATGACATTCGGCTGCTGCC	0.517											OREG0024063	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	64	65					17																	7792996		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.115C>G	17.37:g.7792996C>G	ENSP00000332628:p.Arg39Gly	644	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R39G	ENST00000330494.7	37	c.115	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484871	0.26598	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;D;D	0.89617	2.01;-2.54;-2.54	4.59	2.45	0.29901	.	0.846463	0.09870	N	0.745069	T	0.79423	0.4443	N	0.19112	0.55	0.29660	N	0.843266	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.71487	-0.4578	10	0.49607	T	0.09	-10.0807	6.569	0.22529	0.2025:0.6011:0.1963:0.0	.	39;39;98	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	G	98;39;39	ENSP00000369716:R98G;ENSP00000350907:R39G;ENSP00000332628:R39G	ENSP00000332628:R39G	R	+	1	2	CHD3	7733721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.754000	0.38369	2.250000	0.74265	0.448000	0.29417	CGG	CHD3	-	NULL		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7792996	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7792996	C	G	7792996	3	3	114	1	0	0	0	0	1	0	0	0	3331	875	31	1	402	1	CHD3	17	7792996	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		7792996	73402214	128	17046										
MYO15A	51168	genome.wustl.edu	37	chr17	18064645	18064645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ttgcagggacagctgccagcGaggctggaggctgctgtata	16	9	0	0	rs373695303		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:18064645G>A	ENST00000205890.5	+	57	9739	c.9401G>A	c.(9400-9402)cGa>cAa	p.R3134Q	MYO15A_ENST00000418233.3_Missense_Mutation_p.R398Q|MYO15A_ENST00000451725.2_Missense_Mutation_p.R26Q	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3134	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGCCAGCGAGGCTGGAGG	0.607																																																	0								G	GLN/ARG	0,4270		0,0,2135	40	44	43		9401	5.2	1	17		43	1,8505		0,1,4252	no	missense	MYO15A	NM_016239.3	43	0,1,6387	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	3134/3531	18064645	1,12775	2135	4253	6388	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9401G>A	17.37:g.18064645G>A	ENSP00000205890:p.Arg3134Gln		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R3134Q	ENST00000205890.5	37	c.9401	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.120951	0.94385	0.0	1.18E-4	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92805	-3.11;-3.11;-3.11	5.16	5.16	0.70880	MyTH4 domain (3);	.	.	.	.	D	0.95856	0.8651	M	0.85859	2.78	0.53688	D	0.999978	D;D;D;D;D;D	0.89917	0.989;0.972;1.0;1.0;0.986;0.966	P;P;D;D;P;B	0.76575	0.903;0.552;0.988;0.98;0.606;0.398	D	0.96007	0.8998	9	0.72032	D	0.01	.	11.7287	0.51724	0.1288:0.0:0.8712:0.0	.	26;123;398;3134;56;141	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	Q	3134;123;88;26;26	ENSP00000205890:R3134Q;ENSP00000451782:R88Q;ENSP00000409098:R26Q	ENSP00000205890:R3134Q	R	+	2	0	MYO15A	18005370	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.145000	0.64839	2.399000	0.81585	0.462000	0.41574	CGA	MYO15A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18064645	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18064645	G	A	18064645	3	1	114	1	0	0	0	0	1	0	0	0	10086	1058	37	1	9619	1	MYO15A	17	18064645	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	10271649	18064645	63130565	129	17047										
FLOT2	2319	genome.wustl.edu	37	chr17	27209040	27209040	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ctcataggccaactgggcctCagctgtctgtggcaagaggg	14	11	3	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:27209040C>T	ENST00000394908.4	-	8	810	c.706G>A	c.(706-708)Gag>Aag	p.E236K	FLOT2_ENST00000394906.2_Missense_Mutation_p.E291K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E236K	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	236					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACTGGGCCTCAGCTGTCTGT	0.572																																																	0													39	40	40					17																	27209040		2063	4202	6265	SO:0001583	missense	2319			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.706G>A	17.37:g.27209040C>T	ENSP00000378368:p.Glu236Lys			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E236K	ENST00000394908.4	37	c.706	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307950	0.81247	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.33438	1.41;1.41	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.62016	1.91	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	T	0.28933	-1.0028	10	0.46703	T	0.11	-33.9965	18.4614	0.90739	0.0:1.0:0.0:0.0	.	236	Q14254	FLOT2_HUMAN	K	291;236	ENSP00000378366:E291K;ENSP00000378368:E236K	ENSP00000378366:E291K	E	-	1	0	FLOT2	24233166	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	7.783000	0.85696	2.622000	0.88805	0.591000	0.81541	GAG	FLOT2	-	smart_Band_7		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	C	NM_004475		27209040	-1	no_errors	ENST00000394908	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27209040	C	T	27209040	3	4	114	1	0	0	0	0	1	0	0	0	5955	835	29	1	596	1	FLOT2	17	27209040	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	9144395	27209040	53986170	130	17048										
ABHD15	116236	genome.wustl.edu	37	chr17	27893279	27893279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagcgccgagcccgagccttCgctcaccgcgaacagcggcg	13	18	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:27893279C>G	ENST00000307201.4	-	1	876	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	236						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCCGAGCCTTCGCTCACCGCG	0.716																																																	0													13	16	15					17																	27893279		2188	4279	6467	SO:0001583	missense	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.706G>C	17.37:g.27893279C>G	ENSP00000302657:p.Glu236Gln		Q96EC5	Missense_Mutation	SNP	pirsf_AB-Hydro_YheT	p.E236Q	ENST00000307201.4	37	c.706	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880764	0.91740	.	.	ENSG00000168792	ENST00000307201	T	0.66280	-0.2	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.77384	-0.2608	10	0.52906	T	0.07	-4.8692	16.4884	0.84191	0.0:1.0:0.0:0.0	.	236	Q6UXT9	ABH15_HUMAN	Q	236	ENSP00000302657:E236Q	ENSP00000302657:E236Q	E	-	1	0	ABHD15	24917405	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.378000	0.66190	2.444000	0.82710	0.655000	0.94253	GAA	ABHD15	-	pirsf_AB-Hydro_YheT		0.716	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	C	NM_198147		27893279	-1	no_errors	ENST00000307201	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27893279	C	G	27893279	3	3	114	1	0	0	0	0	1	0	0	0	81	893	31	1	708	1	ABHD15	17	27893279	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	684239	27893279	53301931	131	17049										
ACACA	31	genome.wustl.edu	37	chr17	35656239	35656239	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atatctcatttccttattttCctctggagaaccctccatat	3	12	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:35656239C>T	ENST00000394406.2	-	4	418				ACACA_ENST00000353139.5_Intron|ACACA_ENST00000335166.5_5'UTR|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000360679.3_Missense_Mutation_p.E7K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTATTTTCCTCTGGAGAA	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													85	85	85					17																	35656239		2203	4300	6503	SO:0001627	intron_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.228-14368G>A	17.37:g.35656239C>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E7K	ENST00000394406.2	37	c.19	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047178	0.07407	.	.	ENSG00000132142	ENST00000360679	D	0.95001	-3.58	5.48	0.851	0.18989	.	.	.	.	.	D	0.83138	0.5189	.	.	.	0.28740	N	0.902047	B	0.15473	0.013	B	0.14023	0.01	T	0.71073	-0.4698	8	0.05525	T	0.97	.	6.1524	0.20318	0.0:0.4324:0.4051:0.1625	.	7	Q13085-2	.	K	7	ENSP00000353898:E7K	ENSP00000353898:E7K	E	-	1	0	ACACA	32730352	0.900000	0.30661	0.020000	0.16555	0.931000	0.56810	0.011000	0.13264	0.236000	0.21180	0.467000	0.42956	GAA	ACACA	-	NULL		0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	C	NM_198836		35656239	-1	no_errors	ENST00000360679	ensembl	human	known	70_37	missense	SNP	0.486	T	T	35656239	C	T	35656239	1	4	114	0	1	0	0	0	0	0	0	0	106	864	30	1		1	ACACA	17	35656239	Intron	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	7762960	35656239	45538971	132	17050										
GAST	2520	genome.wustl.edu	37	chr17	39871753	39871753	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggccgccttctctgaagcttCttggaagccccgctcccagc	10	17	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:39871753C>G	ENST00000329402.3	+	2	132	c.65C>G	c.(64-66)tCt>tGt	p.S22C	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	22					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCTGAAGCTTCTTGGAAGCCC	0.597																																																	0													178	176	177					17																	39871753		2203	4300	6503	SO:0001583	missense	2520				CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.65C>G	17.37:g.39871753C>G	ENSP00000331358:p.Ser22Cys		P78463|P78464	Missense_Mutation	SNP	pfam_Gastrin,smart_Gastrin	p.S22C	ENST00000329402.3	37	c.65	CCDS11404.1	17	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519852	0.44866	.	.	ENSG00000184502	ENST00000329402	T	0.25414	1.8	4.56	3.57	0.40892	Gastrin/cholecystokinin peptide hormone (1);	0.133659	0.34879	N	0.003609	T	0.46521	0.1397	M	0.73962	2.25	0.31167	N	0.703631	D	0.76494	0.999	D	0.71870	0.975	T	0.54430	-0.8295	10	0.66056	D	0.02	-7.8317	9.5189	0.39122	0.2269:0.7731:0.0:0.0	.	22	P01350	GAST_HUMAN	C	22	ENSP00000331358:S22C	ENSP00000331358:S22C	S	+	2	0	GAST	37125279	0.997000	0.39634	0.860000	0.33809	0.479000	0.33129	1.932000	0.40143	1.080000	0.41073	0.655000	0.94253	TCT	GAST	-	pfam_Gastrin		0.597	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAST	HGNC	protein_coding	OTTHUMT00000257409.1	C			39871753	1	no_errors	ENST00000329402	ensembl	human	known	70_37	missense	SNP	0.875	G	G	39871753	C	G	39871753	3	3	114	1	0	0	0	0	1	0	0	0	6271	913	32	1	67	1	GAST	17	39871753	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	4215514	39871753	41323457	133	17051										
SLC4A1	6521	genome.wustl.edu	37	chr17	42337837	42337837	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggccggatctggtcttcaaaGataaacctgtctagcagttg	11	9	4	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:42337837G>A	ENST00000262418.6	-	6	575	c.420C>T	c.(418-420)atC>atT	p.I140I	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	140	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGTCTTCAAAGATAAACCTGT	0.597																																																	0													61	56	58					17																	42337837		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.420C>T	17.37:g.42337837G>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.I140	ENST00000262418.6	37	c.420	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	G	NM_000342		42337837	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	silent	SNP	0.991	A	A	42337837	G	A	42337837	2	1	114	1	0	0	0	0	0	0	0	1	14680	932	33	1		1	SLC4A1	17	42337837	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2466084	42337837	38857373	134	17052										
FZD2	2535	genome.wustl.edu	37	chr17	42635857	42635857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ttcactgtcaccacgtacttGgtagacatgcagcgcttccg	9	13	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:42635857G>C	ENST00000315323.3	+	1	933	c.801G>C	c.(799-801)ttG>ttC	p.L267F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	267					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACGTACTTGGTAGACATGC	0.592																																																	0													82	77	79					17																	42635857		2203	4300	6503	SO:0001583	missense	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.801G>C	17.37:g.42635857G>C	ENSP00000323901:p.Leu267Phe		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L267F	ENST00000315323.3	37	c.801	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	14.69	2.610862	0.46527	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.86097	-2.07	4.61	3.63	0.41609	GPCR, family 2-like (1);	0.086715	0.47852	D	0.000214	D	0.87900	0.6294	M	0.83223	2.63	0.49130	D	0.999753	P	0.43477	0.808	P	0.48089	0.566	D	0.87385	0.2359	10	0.66056	D	0.02	.	9.4017	0.38437	0.1839:0.0:0.8161:0.0	.	267	Q14332	FZD2_HUMAN	F	343;267	ENSP00000323901:L267F	ENSP00000323901:L267F	L	+	3	2	FZD2	39991383	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	1.772000	0.38552	0.876000	0.35872	0.561000	0.74099	TTG	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.592	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	G	NM_001466		42635857	1	no_errors	ENST00000315323	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42635857	G	C	42635857	3	2	114	1	0	0	0	0	1	0	0	0	6148	1339	47	4	803	4	FZD2	17	42635857	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	298020	42635857	38559353	135	17053										
SDK2	54549	genome.wustl.edu	37	chr17	71427680	71427680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgaggcctcatcgaccccccGagagttggtggccaggcagg	15	13	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:71427680G>A	ENST00000392650.3	-	11	1441	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	SDK2_ENST00000388726.3_Missense_Mutation_p.R481W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	481	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGACCCCCCGAGAGTTGGTG	0.607																																																	0													153	152	152					17																	71427680		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1441C>T	17.37:g.71427680G>A	ENSP00000376421:p.Arg481Trp		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R481W	ENST00000392650.3	37	c.1441	CCDS45769.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779141|3.779141	0.70107|0.70107	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.67171|.	-0.25;-0.25|.	4.93|4.93	1.57|1.57	0.23409|0.23409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.065910|.	0.64402|.	D|.	0.000018|.	T|T	0.48909|0.48909	0.1526|0.1526	N|N	0.25890|0.25890	0.77|0.77	0.53005|0.53005	D|D	0.999967|0.999967	D;D|.	0.76494|.	0.997;0.999|.	P;P|.	0.61658|.	0.663;0.892|.	T|T	0.24190|0.24190	-1.0167|-1.0167	10|6	0.56958|0.24483	D|T	0.05|0.36	.|.	13.0188|13.0188	0.58773|0.58773	0.0:0.0:0.577:0.423|0.0:0.0:0.577:0.423	.|.	481;481|.	Q58EX2-2;Q58EX2|.	.;SDK2_HUMAN|.	W|L	105;481;481;481|385	ENSP00000376421:R481W;ENSP00000373378:R481W|.	ENSP00000324967:R481W|ENSP00000400371:S385L	R|S	-|-	1|2	2|0	SDK2|SDK2	68939275|68939275	0.995000|0.995000	0.38212|0.38212	0.580000|0.580000	0.28601|0.28601	0.889000|0.889000	0.51656|0.51656	2.366000|2.366000	0.44204|0.44204	0.064000|0.064000	0.16427|0.16427	0.467000|0.467000	0.42956|0.42956	CGG|TCG	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	G	NM_019064		71427680	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	0.826	A	A	71427680	G	A	71427680	3	1	114	1	0	0	0	0	1	0	0	0	13999	1057	37	1	5217	1	SDK2	17	71427680	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	28791823	71427680	9767530	136	17054										
UNC13D	201294	genome.wustl.edu	37	chr17	73831078	73831078	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccgggcagtgtggctgatctGggcaaagcaggtggatagat	17	7	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr17:73831078G>A	ENST00000207549.4	-	21	2294	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Q639*	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	639	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCTGATCTGGGCAAAGCAG	0.587									Familial Hemophagocytic Lymphohistiocytosis																																								0													84	79	81					17																	73831078		2203	4300	6503	SO:0001587	stop_gained	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1915C>T	17.37:g.73831078G>A	ENSP00000207549:p.Gln639*		B4DWG9|Q9H7K5	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q639*	ENST00000207549.4	37	c.1915	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.331381	0.99138	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	.	.	.	4.43	3.44	0.39384	.	0.180238	0.39475	N	0.001342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.4331	13.6927	0.62556	0.0:0.0:0.8443:0.1557	.	.	.	.	X	639	.	ENSP00000207549:Q639X	Q	-	1	0	UNC13D	71342673	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	8.621000	0.90949	1.042000	0.40150	0.563000	0.77884	CAG	UNC13D	-	NULL		0.587	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	G	XM_113950		73831078	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	73831078	G	A	73831078	4	1	114	1	0	0	0	0	0	1	0	0	17018	1357	47	4	1405	4	UNC13D	17	73831078	Nonsense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2403398	73831078	7364132	137	17055										
SMCHD1	23347	genome.wustl.edu	37	chr18	2738531	2738531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tcatgtgtctttggaaagtgCgtttacagtaaggtttgtgg	13	4	2	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr18:2738531C>T	ENST00000320876.6	+	26	3751	c.3413C>T	c.(3412-3414)gCg>gTg	p.A1138V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.A1138V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1138					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGGAAAGTGCGTTTACAGTA	0.378																																																	0													148	133	138					18																	2738531		1888	4117	6005	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3413C>T	18.37:g.2738531C>T	ENSP00000326603:p.Ala1138Val		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.A1138V	ENST00000320876.6	37	c.3413	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292723	0.59976	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26957	1.7;1.71	5.22	4.32	0.51571	.	0.061589	0.64402	D	0.000004	T	0.27489	0.0675	L	0.57536	1.79	0.32419	N	0.549559	B	0.28783	0.222	B	0.23275	0.045	T	0.39078	-0.9631	10	0.72032	D	0.01	-6.1896	15.0782	0.72093	0.0:0.731:0.269:0.0	.	1138	A6NHR9	SMHD1_HUMAN	V	1138	ENSP00000326603:A1138V;ENSP00000261598:A1138V	ENSP00000261598:A1138V	A	+	2	0	SMCHD1	2728531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.977000	0.49297	1.274000	0.44362	0.585000	0.79938	GCG	SMCHD1	-	NULL		0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2738531	1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2738531	C	T	2738531	3	4	114	1	0	0	0	0	1	0	0	0	14818	768	27	2	3515	2	SMCHD1	18	2738531	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		2738531	75338717	138	17056										
SMCHD1	23347	genome.wustl.edu	37	chr18	2740790	2740790	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caattgctggggttggacttGatagctcaaatttgaaaaca	10	6	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr18:2740790G>A	ENST00000320876.6	+	28	3942	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.D1202N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1202					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTTGGACTTGATAGCTCAAA	0.318																																																	0													113	115	115					18																	2740790		1818	4062	5880	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3604G>A	18.37:g.2740790G>A	ENSP00000326603:p.Asp1202Asn		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.D1202N	ENST00000320876.6	37	c.3604	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099230	0.56183	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.32272	1.46;1.46	5.33	4.45	0.53987	.	0.104953	0.64402	D	0.000007	T	0.24198	0.0586	L	0.34521	1.04	0.34284	D	0.682466	B	0.10296	0.003	B	0.08055	0.003	T	0.18461	-1.0336	10	0.36615	T	0.2	-18.907	13.7604	0.62961	0.0742:0.0:0.9258:0.0	.	1202	A6NHR9	SMHD1_HUMAN	N	1202	ENSP00000326603:D1202N;ENSP00000261598:D1202N	ENSP00000261598:D1202N	D	+	1	0	SMCHD1	2730790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.028000	0.64115	2.654000	0.90174	0.650000	0.86243	GAT	SMCHD1	-	NULL		0.318	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	G			2740790	1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2740790	G	A	2740790	3	1	114	1	0	0	0	0	1	0	0	0	14818	1290	45	1	3714	1	SMCHD1	18	2740790	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	2259	2740790	75336458	139	17057										
FZR1	51343	genome.wustl.edu	37	chr19	3526310	3526310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agctgctgggtgccggcatcGagaaggtgcaggacccgcag	17	11	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:3526310G>A	ENST00000395095.3	+	4	313	c.313G>A	c.(313-315)Gag>Aag	p.E105K	FZR1_ENST00000313639.8_Missense_Mutation_p.E105K|FZR1_ENST00000441788.2_Missense_Mutation_p.E105K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	105					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGCATCGAGAAGGTGCA	0.682																																																	0													34	33	33					19																	3526310		2190	4293	6483	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.313G>A	19.37:g.3526310G>A	ENSP00000378529:p.Glu105Lys		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E105K	ENST00000395095.3	37	c.313	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203941	0.58234	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08546	3.08;3.08;3.08	4.53	3.44	0.39384	.	0.123604	0.56097	D	0.000024	T	0.14485	0.0350	M	0.75777	2.31	0.30429	N	0.777393	B;P;D	0.55800	0.059;0.899;0.973	B;B;P	0.50352	0.016;0.196;0.638	T	0.04723	-1.0931	10	0.06099	T	0.92	-35.7672	13.2807	0.60212	0.0:0.1594:0.8406:0.0	.	105;105;105	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	K	105	ENSP00000410369:E105K;ENSP00000378529:E105K;ENSP00000321800:E105K	ENSP00000321800:E105K	E	+	1	0	FZR1	3477310	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.562000	0.98145	2.073000	0.62155	0.561000	0.74099	GAG	FZR1	-	NULL		0.682	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	G	NM_016263		3526310	1	no_errors	ENST00000395095	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3526310	G	A	3526310	3	1	114	1	0	0	0	0	1	0	0	0	6156	1059	37	1	327	1	FZR1	19	3526310	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		3526310	55602673	140	17058										
PLIN5	440503	genome.wustl.edu	37	chr19	4525777	4525777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gagccgaggcgcacaaagtaGccctgctgtctcctctgatc	11	14	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:4525777G>A	ENST00000381848.3	-	6	668	c.588C>T	c.(586-588)ggC>ggT	p.G196G		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	196	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCACAAAGTAGCCCTGCTGTC	0.642																																																	0													44	52	49					19																	4525777		2105	4208	6313	SO:0001819	synonymous_variant	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.588C>T	19.37:g.4525777G>A			A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.G196	ENST00000381848.3	37	c.588	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.642	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	G	NM_001013706		4525777	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4525777	G	A	4525777	2	1	114	1	0	0	0	0	0	0	0	1	12117	958	34	4		4	PLIN5	19	4525777	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	999467	4525777	54603206	141	17059										
KLK2	3817	genome.wustl.edu	37	chr19	51380253	51380253	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggctctggacaggtggtaaaGacacttgtggggtgagtcat	16	6	2	2	rs536878458		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:51380253G>A	ENST00000325321.3	+	4	844	c.619G>A	c.(619-621)Gac>Aac	p.D207N	KLK2_ENST00000391810.2_Missense_Mutation_p.D105N|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000358049.4_Missense_Mutation_p.D207N			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		AGGTGGTAAAGACACTTGTGG	0.502			T	ETV4	prostate								G|||	1	0.000199681	0	0	5008	,	,		19568	0.001		0	False		,,,				2504	0							Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													226	196	206					19																	51380253		2203	4300	6503	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.619G>A	19.37:g.51380253G>A	ENSP00000313581:p.Asp207Asn		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D207N	ENST00000325321.3	37	c.619	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207853	0.58343	.	.	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	T;T;T	0.09538	2.97;2.97;2.97	2.84	1.7	0.24286	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40469	N	0.001087	T	0.22627	0.0546	M	0.72479	2.2	0.24006	N	0.996199	D;D;P	0.69078	0.97;0.997;0.86	P;P;P	0.59171	0.849;0.853;0.541	T	0.03403	-1.1040	10	0.66056	D	0.02	.	8.1428	0.31093	0.135:0.0:0.865:0.0	.	190;207;207	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	N	207;207;105	ENSP00000313581:D207N;ENSP00000350748:D207N;ENSP00000375686:D105N	ENSP00000313581:D207N	D	+	1	0	KLK2	56072065	0.994000	0.37717	0.004000	0.12327	0.181000	0.23173	2.556000	0.45862	0.269000	0.21961	0.305000	0.20034	GAC	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.502	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	G	NM_005551.3		51380253	1	no_errors	ENST00000325321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51380253	G	A	51380253	3	1	114	1	0	0	0	0	1	0	0	0	8424	942	33	1	633	1	KLK2	19	51380253	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	46854476	51380253	7748730	142	17060										
ZNF813	126017	genome.wustl.edu	37	chr19	53993928	53993928	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gatcaagctttcattcgcatCtgcctgaactccacatgttt	6	12	3	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:53993928C>T	ENST00000396403.4	+	4	570	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	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)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATTCGCATCTGCCTGAACT	0.408																																																	0													158	162	161					19																	53993928		2203	4297	6500	SO:0001819	synonymous_variant	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.442C>T	19.37:g.53993928C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L148	ENST00000396403.4	37	c.442	CCDS46172.1	19																																																																																			ZNF813	-	NULL		0.408	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	C	NM_001004301		53993928	1	no_errors	ENST00000396403	ensembl	human	known	70_37	silent	SNP	0.327	T	T	53993928	C	T	53993928	2	4	114	1	0	0	0	0	0	0	0	1	18205	912	32	1		1	ZNF813	19	53993928	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	2613675	53993928	5135055	143	17061										
TTYH1	57348	genome.wustl.edu	37	chr19	54930395	54930395	+	Frame_Shift_Del	DEL	C	C	-													0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tccgcttctgctgctgccggCcccccgagccccccgggtcc					rs572583583	byFrequency	TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:54930395delC	ENST00000376530.3	+	2	323	c.220delC	c.(220-222)cccfs	p.P75fs	TTYH1_ENST00000301194.4_Frame_Shift_Del_p.P75fs|TTYH1_ENST00000376531.3_Frame_Shift_Del_p.P75fs|TTYH1_ENST00000391739.3_Frame_Shift_Del_p.P124fs	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	75					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGCTGCCGGCCCCCCGAGCC	0.692																																																	0													35	40	38					19																	54930395		2203	4298	6501	SO:0001589	frameshift_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.220delC	19.37:g.54930395delC	ENSP00000365713:p.Pro75fs		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Frame_Shift_Del	DEL	pfam_Tweety	p.E76fs	ENST00000376530.3	37	c.220	CCDS12893.1	19																																																																																			TTYH1	-	pfam_Tweety		0.692	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54930395	1	no_errors	ENST00000376531	ensembl	human	known	70_37	frame_shift_del	DEL	0.793	-	-	54930395	C	-	54930395	7	5	114	1	0	1	0	1	0	0	0	0	16770	739	26	0	226	0	TTYH1	19	54930395	Frame_Shift_Del	DEL	C	TCGA-EK-A2RN-01A-12D-A20U-09	936467	54930395	4198588	144	17062	93	2								
TTYH1	57348	genome.wustl.edu	37	chr19	54930396	54930396	+	Missense_Mutation	SNP	C	C	A													0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccgcttctgctgctgccggcCccccgagccccccgggtcca							TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:54930396C>A	ENST00000376530.3	+	2	324	c.221C>A	c.(220-222)cCc>cAc	p.P74H	TTYH1_ENST00000301194.4_Missense_Mutation_p.P74H|TTYH1_ENST00000376531.3_Missense_Mutation_p.P74H|TTYH1_ENST00000391739.3_Missense_Mutation_p.P123H	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	74					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGCTGCCGGCCCCCCGAGCCC	0.697																																																	0													34	39	38					19																	54930396		2203	4298	6501	SO:0001583	missense	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.221C>A	19.37:g.54930396C>A	ENSP00000365713:p.Pro74His		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.P74H	ENST00000376530.3	37	c.221	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036095	0.54896	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	3.51	2.45	0.29901	.	0.192261	0.29369	N	0.012354	T	0.19287	0.0463	L	0.36672	1.1	0.27362	N	0.955922	D;P;P;P	0.71674	0.998;0.676;0.883;0.915	D;P;P;P	0.68192	0.956;0.506;0.506;0.714	T	0.01666	-1.1300	10	0.59425	D	0.04	-16.3909	10.0698	0.42325	0.2027:0.7973:0.0:0.0	.	123;74;74;74	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	H	46;70;74;74;123;123;74	ENSP00000391282:P70H;ENSP00000301194:P74H;ENSP00000365713:P74H;ENSP00000393592:P123H;ENSP00000375619:P123H;ENSP00000365714:P74H	ENSP00000301194:P74H	P	+	2	0	TTYH1	59622208	0.075000	0.21258	0.977000	0.42913	0.838000	0.47535	0.501000	0.22578	0.814000	0.34374	0.561000	0.74099	CCC	TTYH1	-	pfam_Tweety		0.697	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54930396	1	no_errors	ENST00000376531	ensembl	human	known	70_37	missense	SNP	0.808	A	A	54930396	C	A	54930396	3	1	114	1	0	0	0	0	1	0	0	0	16770	623	22	4	227	4	TTYH1	19	54930396	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	1	54930396	4198587	145	17063	93	2								
ZNF787	126208	genome.wustl.edu	37	chr19	56599962	56599962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgcagccgcaggtgacgcgcGaggctcttgggctggctgaa	17	11	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr19:56599962G>A	ENST00000270459.3	-	3	697	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGTGACGCGCGAGGCTCTTGG	0.746																																																	0													2	3	3					19																	56599962		1517	3334	4851	SO:0001819	synonymous_variant	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.579C>T	19.37:g.56599962G>A			O00455	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L193	ENST00000270459.3	37	c.579	CCDS42634.1	19																																																																																			ZNF787	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.746	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF787	HGNC	protein_coding	OTTHUMT00000457498.1	G	NM_001002836		56599962	-1	no_errors	ENST00000270459	ensembl	human	known	70_37	silent	SNP	0.996	A	A	56599962	G	A	56599962	2	1	114	1	0	0	0	0	0	0	0	1	18189	1045	37	1		1	ZNF787	19	56599962	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	1669566	56599962	2529021	146	17064										
DSN1	79980	genome.wustl.edu	37	chr20	35384117	35384117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	acagtcaaagactttgctctGgttctgtaatattttctggt	8	7	4	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr20:35384117G>T	ENST00000426836.1	-	9	1213	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	DSN1_ENST00000448110.2_Missense_Mutation_p.Q265K|DSN1_ENST00000373750.4_Missense_Mutation_p.Q281K|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Missense_Mutation_p.Q209K|DSN1_ENST00000373745.3_Missense_Mutation_p.Q281K|DSN1_ENST00000373734.4_Missense_Mutation_p.Q174K	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	281					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACTTTGCTCTGGTTCTGTAAT	0.373																																																	0													115	100	105					20																	35384117		2203	4300	6503	SO:0001583	missense	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.841C>A	20.37:g.35384117G>T	ENSP00000389810:p.Gln281Lys		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.Q281K	ENST00000426836.1	37	c.841	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222107	0.79464	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.36672	1.1	0.33640	D	0.607123	P;D	0.53619	0.835;0.961	P;P	0.51516	0.524;0.672	T	0.59736	-0.7398	9	0.44086	T	0.13	-21.2886	14.1085	0.65107	0.0:0.0:1.0:0.0	.	174;281	Q5JW55;Q9H410	.;DSN1_HUMAN	K	281;281;265;214;281;209;174;265	.	ENSP00000362838:Q214K	Q	-	1	0	DSN1	34817531	0.993000	0.37304	0.452000	0.26994	0.938000	0.57974	3.356000	0.52269	2.704000	0.92352	0.650000	0.86243	CAG	DSN1	-	pfam_Mtw1_DSN1		0.373	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	G	NM_024918		35384117	-1	no_errors	ENST00000373745	ensembl	human	known	70_37	missense	SNP	0.744	T	T	35384117	G	T	35384117	3	4	114	1	0	0	0	0	1	0	0	0	4790	1357	47	4	241	4	DSN1	20	35384117	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		35384117	27641403	147	17065										
GNAS	2778	genome.wustl.edu	37	chr20	57485827	57485827	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gagaacatccgccgtgtgttCaacgactgccgtgacatcat	10	12	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr20:57485827C>G	ENST00000371085.3	+	13	1552	c.1128C>G	c.(1126-1128)ttC>ttG	p.F376L	GNAS_ENST00000354359.7_Missense_Mutation_p.F377L|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.F1005L|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.F1019L|GNAS_ENST00000371095.3_Missense_Mutation_p.F362L|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.F362L|GNAS_ENST00000265620.7_Missense_Mutation_p.F361L	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	376					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCGTGTGTTCAACGACTGCC	0.517			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													165	112	130					20																	57485827		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.1128C>G	20.37:g.57485827C>G	ENSP00000360126:p.Phe376Leu		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.F377L	ENST00000371085.3	37	c.1131	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643892	0.87859	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.94030	0.7300	10	0.87932	D	0	.	12.3991	0.55402	0.0:0.9219:0.0:0.0781	.	376;377;361;1019	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	L	1019;1005;362;376;377;361;362;142	ENSP00000360141:F1019L;ENSP00000360143:F1005L;ENSP00000360136:F362L;ENSP00000360126:F376L;ENSP00000346328:F377L;ENSP00000265620:F361L;ENSP00000304472:F362L	ENSP00000265620:F361L	F	+	3	2	GNAS	56919222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.717000	0.54911	2.567000	0.86603	0.467000	0.42956	TTC	GNAS	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.517	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	C	NM_000516		57485827	1	no_errors	ENST00000354359	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57485827	C	G	57485827	3	3	114	1	0	0	0	0	1	0	0	0	6529	825	29	1	3995	1	GNAS	20	57485827	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	22101710	57485827	5539693	148	17066										
KCNQ2	3785	genome.wustl.edu	37	chr20	62076670	62076670	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cagcagcagcctgcggcccaGatccgcacgaagtactccac	10	17	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr20:62076670G>A	ENST00000359125.2	-	3	609	c.435C>T	c.(433-435)atC>atT	p.I145I	KCNQ2_ENST00000370224.1_Silent_p.I145I|KCNQ2_ENST00000359689.1_Silent_p.I145I|KCNQ2_ENST00000354587.3_Silent_p.I145I|KCNQ2_ENST00000344462.4_Silent_p.I145I|KCNQ2_ENST00000360480.3_Silent_p.I145I|KCNQ2_ENST00000357249.2_Silent_p.I145I|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000344425.5_Silent_p.I145I	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	145					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTGCGGCCCAGATCCGCACGA	0.647																																																	0													81	76	78					20																	62076670		2203	4300	6503	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.435C>T	20.37:g.62076670G>A			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I145	ENST00000359125.2	37	c.435	CCDS13520.1	20																																																																																			KCNQ2	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	G	NM_172109		62076670	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62076670	G	A	62076670	2	1	114	1	0	0	0	0	0	0	0	1	8103	932	33	1		1	KCNQ2	20	62076670	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	4590843	62076670	948850	149	17067										
TIAM1	7074	genome.wustl.edu	37	chr21	32537340	32537340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gcccctcggtctcctctggaGcggtctcagcactgctgccc	11	18	3	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr21:32537340G>A	ENST00000286827.3	-	17	3401	c.2930C>T	c.(2929-2931)gCt>gTt	p.A977V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A917V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	977					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCTCTGGAGCGGTCTCAGC	0.502																																																	0													80	76	77					21																	32537340		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2930C>T	21.37:g.32537340G>A	ENSP00000286827:p.Ala977Val		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.A977V	ENST00000286827.3	37	c.2930	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	G	8.520	0.868425	0.17250	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.05	4.65	3.77	0.43336	.	0.473779	0.22050	N	0.065336	T	0.31136	0.0787	L	0.40543	1.245	0.09310	N	0.999995	B;B;B	0.17038	0.001;0.001;0.02	B;B;B	0.14578	0.003;0.001;0.011	T	0.16247	-1.0409	10	0.16896	T	0.51	.	10.8046	0.46509	0.0885:0.0:0.9115:0.0	.	917;917;977	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	977;818;917	ENSP00000286827:A977V;ENSP00000441570:A917V	ENSP00000286827:A977V	A	-	2	0	TIAM1	31459211	0.633000	0.27181	0.027000	0.17364	0.492000	0.33523	3.807000	0.55591	1.178000	0.42870	0.655000	0.94253	GCT	TIAM1	-	NULL		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32537340	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	missense	SNP	0.064	A	A	32537340	G	A	32537340	3	1	114	1	0	0	0	0	1	0	0	0	15920	971	34	4	1897	4	TIAM1	21	32537340	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		32537340	15592555	150	17068										
PCNT	5116	genome.wustl.edu	37	chr21	47831138	47831138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agttctgagattgaagagctGaaagccactattgaaaatct	9	6	2	5			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr21:47831138G>A	ENST00000359568.5	+	28	5258	c.5151G>A	c.(5149-5151)ctG>ctA	p.L1717L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1717					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTGAAGAGCTGAAAGCCACTA	0.403																																																	0													67	74	72					21																	47831138		2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5151G>A	21.37:g.47831138G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.L1717	ENST00000359568.5	37	c.5151	CCDS33592.1	21																																																																																			PCNT	-	NULL		0.403	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47831138	1	no_errors	ENST00000359568	ensembl	human	known	70_37	silent	SNP	0.629	A	A	47831138	G	A	47831138	2	1	114	1	0	0	0	0	0	0	0	1	11614	1277	45	1		1	PCNT	21	47831138	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	15293798	47831138	298757	151	17069										
TRMT2A	27037	genome.wustl.edu	37	chr22	20103702	20103702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caccctcctgtcgcctcctcCtggccatggggtcggccttg	11	18	0	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:20103702C>T	ENST00000252136.7	-	2	846	c.458G>A	c.(457-459)aGg>aAg	p.R153K	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R153K|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R153K|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R153K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	153	Poly-Arg.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TCGCCTCCTCCTGGCCATGGG	0.657																																																	0													55	53	54					22																	20103702		2202	4300	6502	SO:0001583	missense	27037			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.458G>A	22.37:g.20103702C>T	ENSP00000252136:p.Arg153Lys		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.R153K	ENST00000252136.7	37	c.458	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132098	0.21041	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.34	-1.23	0.09465	Nucleotide-binding, alpha-beta plait (1);	0.326257	0.34879	N	0.003615	T	0.11965	0.0291	N	0.03238	-0.38	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.41251	-0.9519	10	0.02654	T	1	-21.1929	11.0282	0.47757	0.0:0.3162:0.0:0.6838	.	153;153;153	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	K	153	ENSP00000252136:R153K;ENSP00000385807:R153K;ENSP00000384968:R153K;ENSP00000395738:R153K	ENSP00000252136:R153K	R	-	2	0	TRMT2A	18483702	0.994000	0.37717	0.929000	0.37066	0.914000	0.54420	0.330000	0.19715	-0.226000	0.09899	-0.339000	0.08088	AGG	TRMT2A	-	NULL		0.657	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	C	NM_022727		20103702	-1	no_errors	ENST00000252136	ensembl	human	known	70_37	missense	SNP	0.978	T	T	20103702	C	T	20103702	3	4	114	1	0	0	0	0	1	0	0	0	16596	681	24	4	1463	4	TRMT2A	22	20103702	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09		20103702	31200864	152	17070										
EIF4ENIF1	56478	genome.wustl.edu	37	chr22	31837859	31837859	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gtgagcaggcctaaccatagGgacatgggggacaaggggaa	17	7	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:31837859G>C	ENST00000397525.1	-	17	2675	c.2452C>G	c.(2452-2454)Cct>Gct	p.P818A	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P818A|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P644A|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P473A|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P794A	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	818						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)			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						CTAACCATAGGGACATGGGGG	0.547																																																	0													197	169	178					22																	31837859		2203	4300	6503	SO:0001583	missense	56478			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.2452C>G	22.37:g.31837859G>C	ENSP00000380659:p.Pro818Ala		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.P818A	ENST00000397525.1	37	c.2452	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856316	0.91355	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.994;0.994;0.999;0.994	T	0.78570	-0.2153	9	0.72032	D	0.01	-15.0593	19.5548	0.95338	0.0:0.0:1.0:0.0	.	644;818;643;794	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	A	644;818;818;794;473	.	ENSP00000328103:P818A	P	-	1	0	EIF4ENIF1	30167859	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.335000	0.90031	2.854000	0.98071	0.655000	0.94253	CCT	EIF4ENIF1	-	NULL		0.547	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	G	NM_019843		31837859	-1	no_errors	ENST00000330125	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31837859	G	C	31837859	3	2	114	1	0	0	0	0	1	0	0	0	5047	1232	43	4	517	4	EIF4ENIF1	22	31837859	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	11734157	31837859	19466707	153	17071										
MCHR1	2847	genome.wustl.edu	37	chr22	41077812	41077812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ccctttgtgtacatcgtgctCtgtgagacgttccgcaaacg	10	12	1	1	rs199767344		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:41077812C>T	ENST00000249016.4	+	2	1845	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.L257L	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	383					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ACATCGTGCTCTGTGAGACGT	0.592																																																	0													126	99	108					22																	41077812		2203	4300	6503	SO:0001819	synonymous_variant	2847				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1149C>T	22.37:g.41077812C>T			B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.L383	ENST00000249016.4	37	c.1149	CCDS14004.1	22																																																																																			MCHR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.592	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	C	NM_005297		41077812	1	no_errors	ENST00000249016	ensembl	human	known	70_37	silent	SNP	1.000	T	T	41077812	C	T	41077812	2	4	114	1	0	0	0	0	0	0	0	1	9405	900	32	1		1	MCHR1	22	41077812	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	9239953	41077812	10226754	154	17072										
FBLN1	2192	genome.wustl.edu	37	chr22	45996325	45996325	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cgtctctgagtactggttctGagggctggtctgccgcacag	14	11	3	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chr22:45996325G>C	ENST00000327858.6	+	17	2206	c.2111G>C	c.(2110-2112)tGa>tCa	p.*704S	FBLN1_ENST00000348697.2_Nonstop_Mutation_p.*704S	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	0					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACTGGTTCTGAGGGCTGGTC	0.532																																																	0													167	147	154					22																	45996325		2203	4300	6503	SO:0001578	stop_lost	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.2111G>C	22.37:g.45996325G>C	ENSP00000331544:p.*704Serext*38		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Nonstop_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.*704S	ENST00000327858.6	37	c.2111	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702036	0.48307	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	.	.	.	5.49	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7996	0.40755	0.197:0.0:0.803:0.0	.	.	.	.	S	704	.	.	X	+	2	2	FBLN1	44374989	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.208000	0.42797	2.576000	0.86940	0.591000	0.81541	TGA	FBLN1	-	NULL		0.532	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	G	NM_006486		45996325	1	no_errors	ENST00000327858	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	45996325	G	C	45996325	4	2	114	1	0	0	0	0	0	0	0	0	5716	1285	45	1	2657	1	FBLN1	22	45996325	Nonstop_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	4918513	45996325	5308241	155	17073										
PRPS2	5634	genome.wustl.edu	37	chrX	12838851	12838851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tttccagaataaataatgccGcctttgaggctgttgtcgtc	9	9	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:12838851G>T	ENST00000380668.5	+	6	921	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	PRPS2_ENST00000398491.2_Missense_Mutation_p.A268S	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	265					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AAATAATGCCGCCTTTGAGGC	0.473																																																	0													108	90	96					X																	12838851		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.793G>T	X.37:g.12838851G>T	ENSP00000370043:p.Ala265Ser		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.A268S	ENST00000380668.5	37	c.802	CCDS14150.1	X	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753967	0.31046	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000461630;ENST00000460220	D;D;T	0.91631	-2.88;-2.88;-0.6	4.88	1.89	0.25635	.	0.181258	0.48767	N	0.000166	D	0.83557	0.5280	N	0.26042	0.785	0.34230	D	0.676448	B;B	0.06786	0.001;0.001	B;B	0.11329	0.002;0.006	T	0.73802	-0.3868	10	0.13108	T	0.6	-12.106	10.0936	0.42462	0.0:0.1223:0.4928:0.3849	.	265;268	P11908;P11908-2	PRPS2_HUMAN;.	S	265;268;120;97	ENSP00000370043:A265S;ENSP00000381504:A268S;ENSP00000418911:A120S	ENSP00000370043:A265S	A	+	1	0	PRPS2	12748772	0.001000	0.12720	0.244000	0.24202	0.971000	0.66376	0.563000	0.23547	0.042000	0.15717	0.468000	0.43344	GCC	PRPS2	-	tigrfam_Rib-P_diPkinase		0.473	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	G	NM_002765		12838851	1	no_errors	ENST00000398491	ensembl	human	known	70_37	missense	SNP	0.185	T	T	12838851	G	T	12838851	3	4	114	1	0	0	0	0	1	0	0	0	12607	1087	38	2	824	2	PRPS2	23	12838851	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09		12838851	142431709	156	17074										
CXorf23	256643	genome.wustl.edu	37	chrX	19973608	19973608	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aagatgttcaaacactggatGaaagttctcacttttcctgc	7	9	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:19973608G>A	ENST00000379682.4	-	4	1384	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	CXorf23_ENST00000379687.3_Missense_Mutation_p.H451Y|CXorf23_ENST00000356980.3_Missense_Mutation_p.H451Y			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	451						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AACACTGGATGAAAGTTCTCA	0.368																																																	0													144	123	130					X																	19973608		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1351C>T	X.37:g.19973608G>A	ENSP00000369004:p.His451Tyr		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.H451Y	ENST00000379682.4	37	c.1351		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.720791|3.720791	0.68959|0.68959	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.17213|.	2.29;2.29;2.29|.	5.66|5.66	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	T|T	0.61048|0.61048	0.2316|0.2316	M|M	0.61703|0.61703	1.905|1.905	0.33219|0.33219	D|D	0.55441|0.55441	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.998|.	T|T	0.70107|0.70107	-0.4963|-0.4963	8|5	.|.	.|.	.|.	.|.	13.7264|13.7264	0.62761|0.62761	0.0:0.1498:0.8502:0.0|0.0:0.1498:0.8502:0.0	.|.	162;451;451|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	Y|L	451;451;451;339|59	ENSP00000369009:H451Y;ENSP00000369004:H451Y;ENSP00000349470:H451Y|.	.|.	H|S	-|-	1|2	0|0	CXorf23|CXorf23	19883529|19883529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.121000|3.121000	0.50438|0.50438	1.086000|1.086000	0.41228|0.41228	0.600000|0.600000	0.82982|0.82982	CAT|TCA	CXorf23	-	NULL		0.368	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	G	NM_198279		19973608	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19973608	G	A	19973608	3	1	114	1	0	0	0	0	1	0	0	0	4108	1290	45	1	729	1	CXorf23	23	19973608	Missense_Mutation	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	7134757	19973608	135296952	157	17075										
POLA1	5422	genome.wustl.edu	37	chrX	24759593	24759593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	tgttcttccattagcattgcAgatcactaacatcgctggga	8	10	2	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:24759593A>G	ENST00000379059.3	+	21	2315	c.2300A>G	c.(2299-2301)cAg>cGg	p.Q767R	POLA1_ENST00000379068.3_Missense_Mutation_p.Q773R|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	767					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TTAGCATTGCAGATCACTAAC	0.388																																																	0													128	105	113					X																	24759593		2203	4300	6503	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2300A>G	X.37:g.24759593A>G	ENSP00000368349:p.Gln767Arg		Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.Q773R	ENST00000379059.3	37	c.2318	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941274	0.73557	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.44482	0.92;0.92	5.24	5.24	0.73138	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74925	-0.3498	10	0.52906	T	0.07	-9.0274	14.2655	0.66116	1.0:0.0:0.0:0.0	.	767	P09884	DPOLA_HUMAN	R	773;767	ENSP00000368358:Q773R;ENSP00000368349:Q767R	ENSP00000368349:Q767R	Q	+	2	0	POLA1	24669514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.690000	0.91272	1.944000	0.56390	0.486000	0.48141	CAG	POLA1	-	superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2		0.388	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	A	NM_016937		24759593	1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24759593	A	G	24759593	3	3	114	1	0	0	0	0	1	0	0	0	12211	188	7	5	2382	5	POLA1	23	24759593	Missense_Mutation	SNP	A	TCGA-EK-A2RN-01A-12D-A20U-09	4785985	24759593	130510967	158	17076										
TAB3	257397	genome.wustl.edu	37	chrX	30877610	30877610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggtaggtaacttacctgtaaCatgcactgagacaccacgcc	9	12	0	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:30877610C>T	ENST00000378933.1	-	2	273	c.96G>A	c.(94-96)atG>atA	p.M32I	TAB3_ENST00000378932.2_Missense_Mutation_p.M32I|TAB3_ENST00000378930.3_Missense_Mutation_p.M32I|TAB3_ENST00000288422.2_Missense_Mutation_p.M32I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	32	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTACCTGTAACATGCACTGAG	0.438																																					Pancreas(164;1598 1985 29022 43301 49529)												0													94	72	80					X																	30877610		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.96G>A	X.37:g.30877610C>T	ENSP00000368215:p.Met32Ile		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.M32I	ENST00000378933.1	37	c.96	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960137	0.53400	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.63	5.23	5.23	0.72850	Ubiquitin system component Cue (3);	0.092391	0.85682	D	0.000000	T	0.64450	0.2599	N	0.25647	0.755	0.48632	D	0.999684	P;P	0.38978	0.6;0.652	B;B	0.40940	0.233;0.344	T	0.69401	-0.5155	10	0.66056	D	0.02	0.2813	17.9491	0.89047	0.0:1.0:0.0:0.0	.	32;32	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	32	ENSP00000368215:M32I;ENSP00000368212:M32I;ENSP00000288422:M32I;ENSP00000368214:M32I	ENSP00000288422:M32I	M	-	3	0	TAB3	30787531	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.864000	0.69575	2.172000	0.68678	0.415000	0.27848	ATG	TAB3	-	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE		0.438	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	C	NM_152787		30877610	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30877610	C	T	30877610	3	4	114	1	0	0	0	0	1	0	0	0	15527	478	17	4	2070	4	TAB3	23	30877610	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	6118017	30877610	124392950	159	17077										
NDP	4693	genome.wustl.edu	37	chrX	43809085	43809085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agtgacaggagaggatgtacCggtaggtggcagtgagtcgc	18	6	0	3	rs137852220		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:43809085C>A	ENST00000378062.5	-	3	769	c.362G>T	c.(361-363)cGg>cTg	p.R121L	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	121	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		Missing (in ND). {ECO:0000269|PubMed:7627181}.|R -> G (in EVR2).|R -> L (in EVR2). {ECO:0000269|PubMed:8946107}.|R -> Q (in EVR2 and ND; reduced amount of protein in the extracellular matrix). {ECO:0000269|PubMed:16163268, ECO:0000269|PubMed:7795608, ECO:0000269|PubMed:8281159}.|R -> W (in ND and EVR2). {ECO:0000269|PubMed:17296899, ECO:0000269|PubMed:7795608}.		canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						GAGGATGTACCGGTAGGTGGC	0.612											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CM930511	NDP	M	rs137852220						48	34	39					X																	43809085		2195	4292	6487	SO:0001583	missense	4693			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"Endogenous ligands"	7678	protein-coding gene	gene with protein product		300658	"exudative vitreoretinopathy 2 (X-linked)"	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.362G>T	X.37:g.43809085C>A	ENSP00000367301:p.Arg121Leu	919	B2R8K6|Q5JYH5	Missense_Mutation	SNP	pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis	p.R121L	ENST00000378062.5	37	c.362	CCDS14262.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.406160	0.96051	.	.	ENSG00000124479	ENST00000378062	D	0.90385	-2.66	5.96	5.96	0.96718	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92603	0.7650	L	0.27053	0.805	0.80722	A	1	D	0.69078	0.997	D	0.79784	0.993	D	0.93608	0.6936	9	0.87932	D	0	-8.5065	19.3572	0.94420	0.0:1.0:0.0:0.0	.	121	Q00604	NDP_HUMAN	L	121	ENSP00000367301:R121L	ENSP00000367301:R121L	R	-	2	0	NDP	43694029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.524000	0.85096	0.600000	0.82982	CGG	NDP	-	pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis		0.612	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDP	HGNC	protein_coding	OTTHUMT00000056309.1	C	NM_000266		43809085	-1	no_errors	ENST00000378062	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43809085	C	A	43809085	3	1	114	1	0	0	0	0	1	0	0	0	10274	652	23	2	43	2	NDP	23	43809085	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	12931475	43809085	111461475	160	17078										
ITIH5L	347365	genome.wustl.edu	37	chrX	54784515	54784515	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gataagtagaactttggtttCacaggccttgatttggggga	13	5	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:54784515C>T	ENST00000218436.6	-	8	2021	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	664					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACTTTGGTTTCACAGGCCTTG	0.527																																																	0													90	72	78					X																	54784515		2203	4300	6503	SO:0001819	synonymous_variant	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1992G>A	X.37:g.54784515C>T			A6NN03	Silent	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.V664	ENST00000218436.6	37	c.1992	CCDS14361.1	X																																																																																			ITIH6	-	NULL		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	C	NM_198510		54784515	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	silent	SNP	0.000	T	T	54784515	C	T	54784515	2	4	114	1	0	0	0	0	0	0	0	1	7928	813	29	1		1	ITIH5L	23	54784515	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	10975430	54784515	100486045	161	17079										
VSIG1	340547	genome.wustl.edu	37	chrX	107315938	107315938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aagcccctttgtagcgttcaAggaagaccagaaactggcca	10	11	1	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:107315938A>C	ENST00000217957.5	+	4	561	c.444A>C	c.(442-444)caA>caC	p.Q148H	VSIG1_ENST00000415430.3_Missense_Mutation_p.Q184H|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	148	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTAGCGTTCAAGGAAGACCAG	0.438																																																	0													224	174	191					X																	107315938		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.444A>C	X.37:g.107315938A>C	ENSP00000217957:p.Gln148His		C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q184H	ENST00000217957.5	37	c.552	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064767	0.55432	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.15139	2.45;2.45	5.01	3.85	0.44370	Immunoglobulin-like (1);	0.164332	0.40469	N	0.001099	T	0.14485	0.0350	L	0.33093	0.98	0.32035	N	0.599019	P;P	0.45240	0.854;0.728	P;B	0.46144	0.505;0.28	T	0.14035	-1.0487	10	0.56958	D	0.05	.	3.7914	0.08722	0.7087:0.0:0.1014:0.1898	.	184;148	C9J4P2;Q86XK7	.;VSIG1_HUMAN	H	184;148	ENSP00000402219:Q184H;ENSP00000217957:Q148H	ENSP00000217957:Q148H	Q	+	3	2	VSIG1	107202594	0.997000	0.39634	1.000000	0.80357	0.940000	0.58332	0.360000	0.20250	0.825000	0.34637	0.486000	0.48141	CAA	VSIG1	-	smart_Ig_sub,pfscan_Ig-like		0.438	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	A	NM_182607		107315938	1	no_errors	ENST00000415430	ensembl	human	known	70_37	missense	SNP	0.997	C	C	107315938	A	C	107315938	3	2	114	1	0	0	0	0	1	0	0	0	17253	69	3	5	570	5	VSIG1	23	107315938	Missense_Mutation	SNP	A	TCGA-EK-A2RN-01A-12D-A20U-09	52531423	107315938	47954622	162	17080										
COL4A5	1287	genome.wustl.edu	37	chrX	107936120	107936120	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	atgccaatgagcatgcaaccCctaaagggccagagcatcca	9	13	0	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:107936120C>A	ENST00000361603.2	+	48	4897	c.4653C>A	c.(4651-4653)ccC>ccA	p.P1551P	COL4A5_ENST00000328300.6_Silent_p.P1557P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1551	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCATGCAACCCCTAAAGGGCC	0.438									Alport syndrome with Diffuse Leiomyomatosis																																								0													94	84	87					X																	107936120		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4653C>A	X.37:g.107936120C>A			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1557	ENST00000361603.2	37	c.4671	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	C			107936120	1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	0.996	A	A	107936120	C	A	107936120	2	1	114	1	0	0	0	0	0	0	0	1	3699	610	22	4		4	COL4A5	23	107936120	Silent	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	620182	107936120	47334440	163	17081										
CAPN6	827	genome.wustl.edu	37	chrX	110494281	110494281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	aaatagggttgttcacattgCggcagacattcagtttgtga	11	6	2	2			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:110494281C>T	ENST00000324068.1	-	8	1189	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R86H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	341	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTTCACATTGCGGCAGACATT	0.463																																																	0													321	288	299					X																	110494281		2203	4300	6503	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1022G>A	X.37:g.110494281C>T	ENSP00000317214:p.Arg341His		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R341H	ENST00000324068.1	37	c.1022	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232072	0.58777	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.40756	1.02;2.37	5.95	4.18	0.49190	Peptidase C2, calpain, catalytic domain (3);	0.250879	0.37809	N	0.001921	T	0.37293	0.0998	L	0.33710	1.025	0.58432	D	0.999997	D	0.54964	0.969	P	0.49528	0.614	T	0.06023	-1.0850	10	0.19590	T	0.45	.	11.4967	0.50413	0.0:0.8527:0.0:0.1473	.	341	Q9Y6Q1	CAN6_HUMAN	H	341;86	ENSP00000317214:R341H;ENSP00000441736:R86H	ENSP00000317214:R341H	R	-	2	0	CAPN6	110380937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.651000	0.61447	1.258000	0.44101	0.600000	0.82982	CGC	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	C			110494281	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110494281	C	T	110494281	3	4	114	1	0	0	0	0	1	0	0	0	2635	768	27	2	927	2	CAPN6	23	110494281	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	2558161	110494281	44776279	164	17082										
NKRF	55922	genome.wustl.edu	37	chrX	118723425	118723425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	acctaccactaggtacctatCatggcccaccccatgagact	6	16	1	1			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:118723425C>T	ENST00000371527.1	-	2	2615	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	NKRF_ENST00000304449.5_Missense_Mutation_p.D655N|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.D670N	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	655	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGGTACCTATCATGGCCCACC	0.453																																																	0													136	111	120					X																	118723425		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1963G>A	X.37:g.118723425C>T	ENSP00000360582:p.Asp655Asn		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.D670N	ENST00000371527.1	37	c.2008	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659913	0.29515	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.44083	0.94;0.94;0.93	5.95	5.95	0.96441	Single-stranded nucleic acid binding R3H (3);	0.211023	0.50627	D	0.000115	T	0.31888	0.0811	N	0.26130	0.795	0.41039	D	0.985214	B	0.06786	0.001	B	0.13407	0.009	T	0.07539	-1.0767	10	0.35671	T	0.21	-25.3716	13.5361	0.61648	0.0:0.9216:0.0:0.0784	.	655	O15226	NKRF_HUMAN	N	655;655;670	ENSP00000360582:D655N;ENSP00000304803:D655N;ENSP00000442308:D670N	ENSP00000304803:D655N	D	-	1	0	NKRF	118607453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.995000	0.57001	2.506000	0.84524	0.600000	0.82982	GAT	NKRF	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.453	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	C	NM_017544		118723425	-1	no_errors	ENST00000542113	ensembl	human	known	70_37	missense	SNP	0.993	T	T	118723425	C	T	118723425	3	4	114	1	0	0	0	0	1	0	0	0	10471	826	29	1	113	1	NKRF	23	118723425	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	8229144	118723425	36547135	165	17083										
TFDP3	51270	genome.wustl.edu	37	chrX	132351492	132351492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	ggagatgctgcagttgatgaCggtcttcttgctactgctga	13	8	2	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:132351492C>T	ENST00000310125.4	-	1	884	c.796G>A	c.(796-798)Gtc>Atc	p.V266I		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	266	DCB2. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CAGTTGATGACGGTCTTCTTG	0.502																																																	0													133	134	133					X																	132351492		2199	4300	6499	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.796G>A	X.37:g.132351492C>T	ENSP00000385461:p.Val266Ile		Q6DK49|Q9NZ54	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.V266I	ENST00000310125.4	37	c.796	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	c	10.32	1.316881	0.23908	.	.	ENSG00000183434	ENST00000310125	T	0.26223	1.75	0.208	0.208	0.15221	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.17662	0.0424	L	0.45137	1.4	0.51482	D	0.999928	B	0.27997	0.197	B	0.20577	0.03	T	0.06661	-1.0814	9	0.52906	T	0.07	.	6.1509	0.20310	0.0:0.9996:0.0:4.0E-4	.	266	Q5H9I0	TFDP3_HUMAN	I	266	ENSP00000385461:V266I	ENSP00000385461:V266I	V	-	1	0	TFDP3	132179158	0.995000	0.38212	0.007000	0.13788	0.007000	0.05969	3.364000	0.52328	0.268000	0.21939	0.271000	0.19318	GTC	TFDP3	-	pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr		0.502	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	HGNC	protein_coding	OTTHUMT00000058337.1	C	NM_016521		132351492	-1	no_errors	ENST00000310125	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132351492	C	T	132351492	3	4	114	1	0	0	0	0	1	0	0	0	15829	536	19	2	425	2	TFDP3	23	132351492	Missense_Mutation	SNP	C	TCGA-EK-A2RN-01A-12D-A20U-09	13628067	132351492	22919068	166	17084										
VGLL1	51442	genome.wustl.edu	37	chrX	135630903	135630903	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	cgtccctggctaggagggccTctgttcggcctggggagctg	17	12	1	0			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:135630903T>A	ENST00000370634.3	+	3	540	c.370T>A	c.(370-372)Tct>Act	p.S124T	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TAGGAGGGCCTCTGTTCGGCC	0.612																																																	0													220	174	190					X																	135630903		2203	4300	6503	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.370T>A	X.37:g.135630903T>A	ENSP00000359668:p.Ser124Thr		Q5H915	Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.S124T	ENST00000370634.3	37	c.370	CCDS14658.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.141|6.141	0.394224|0.394224	0.11638|0.11638	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000440515|ENST00000370634	.|T	.|0.44482	.|0.92	5.68|5.68	-1.1|-1.1	0.09872|0.09872	.|.	.|0.389481	.|0.30547	.|N	.|0.009387	T|T	0.21145|0.21145	0.0509|0.0509	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.21905	.|0.062	.|B	.|0.19148	.|0.024	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.19147	.|T	.|0.46	-1.044|-1.044	4.83|4.83	0.13435|0.13435	0.1878:0.4943:0.0:0.3179|0.1878:0.4943:0.0:0.3179	.|.	.|124	.|Q99990	.|VGLL1_HUMAN	H|T	88|124	.|ENSP00000359668:S124T	.|ENSP00000359668:S124T	L|S	+|+	2|1	0|0	VGLL1|VGLL1	135458569|135458569	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.156000|-0.156000	0.10100|0.10100	-0.267000|-0.267000	0.09325|0.09325	0.430000|0.430000	0.28490|0.28490	CTC|TCT	VGLL1	-	NULL		0.612	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL1	HGNC	protein_coding	OTTHUMT00000058493.1	T	NM_016267		135630903	1	no_errors	ENST00000370634	ensembl	human	known	70_37	missense	SNP	0.000	A	A	135630903	T	A	135630903	3	1	114	1	0	0	0	0	1	0	0	0	17189	1551	54	5	376	5	VGLL1	23	135630903	Missense_Mutation	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	3279411	135630903	19639657	167	17085										
ARHGEF6	9459	genome.wustl.edu	37	chrX	135762923	135762923	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	catgatgacgatgaggttttGgataatgaactgcaagaggc	13	5	0	5			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:135762923G>T	ENST00000250617.6	-	15	2876	c.1671C>A	c.(1669-1671)tcC>tcA	p.S557S	ARHGEF6_ENST00000370620.1_Silent_p.S403S|ARHGEF6_ENST00000535227.1_Silent_p.S430S|ARHGEF6_ENST00000370622.1_Silent_p.S403S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	557					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATGAGGTTTTGGATAATGAAC	0.458																																																	0													245	184	205					X																	135762923		2203	4300	6503	SO:0001819	synonymous_variant	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1671C>A	X.37:g.135762923G>T			A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.S557	ENST00000250617.6	37	c.1671	CCDS14660.1	X																																																																																			ARHGEF6	-	NULL		0.458	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	G	NM_004840		135762923	-1	no_errors	ENST00000250617	ensembl	human	known	70_37	silent	SNP	0.945	T	T	135762923	G	T	135762923	2	4	114	1	0	0	0	0	0	0	0	1	910	1335	47	4		4	ARHGEF6	23	135762923	Silent	SNP	G	TCGA-EK-A2RN-01A-12D-A20U-09	132020	135762923	19507637	168	17086										
SPANXN2	494119	genome.wustl.edu	37	chrX	142795166	142795166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	caccctcctgtgaagatcctTcagatgagtctaggtcttcg	9	12	3	4			TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:142795166T>G	ENST00000370498.1	-	2	1265	c.512A>C	c.(511-513)gAa>gCa	p.E171A		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	171										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCCTTCAGATGAGTC	0.473																																																	0													262	234	243					X																	142795166		2203	4300	6503	SO:0001583	missense	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.512A>C	X.37:g.142795166T>G	ENSP00000359529:p.Glu171Ala		Q0ZNM2	Missense_Mutation	SNP	pfam_SPANX_prot	p.E171A	ENST00000370498.1	37	c.512	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	t	6.548	0.469455	0.12461	.	.	ENSG00000203924	ENST00000370498	T	0.08370	3.1	0.63	-1.25	0.09405	.	.	.	.	.	T	0.06872	0.0175	M	0.63843	1.955	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.20075	-1.0286	8	0.59425	D	0.04	.	.	.	.	.	171	Q5MJ10	SPXN2_HUMAN	A	171	ENSP00000359529:E171A	ENSP00000359529:E171A	E	-	2	0	SPANXN2	142622832	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.177000	0.09796	-0.482000	0.06782	0.235000	0.17854	GAA	SPANXN2	-	NULL		0.473	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	T	NM_001009615		142795166	-1	no_errors	ENST00000370498	ensembl	human	known	70_37	missense	SNP	0.001	G	G	142795166	T	G	142795166	3	3	114	1	0	0	0	0	1	0	0	0	15021	1783	62	5	34	5	SPANXN2	23	142795166	Missense_Mutation	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	7032243	142795166	12475394	169	17087			1	75		2	2	12	T		6.004984e-05
SPANXN2	494119	genome.wustl.edu	37	chrX	142795177	142795177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	gaagatccttcagatgagtcTaggtcttcgtcctcctgtga	10	10	3	4	rs145743231		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:142795177T>C	ENST00000370498.1	-	2	1254	c.501A>G	c.(499-501)ctA>ctG	p.L167L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	167										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGAGTCTAGGTCTTCGT	0.493																																																	0													287	257	267					X																	142795177		2203	4300	6503	SO:0001819	synonymous_variant	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.501A>G	X.37:g.142795177T>C			Q0ZNM2	Silent	SNP	pfam_SPANX_prot	p.L167	ENST00000370498.1	37	c.501	CCDS35419.1	X																																																																																			SPANXN2	-	NULL		0.493	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	T	NM_001009615		142795177	-1	no_errors	ENST00000370498	ensembl	human	known	70_37	silent	SNP	0.004	C	C	142795177	T	C	142795177	2	2	114	1	0	0	0	0	0	0	0	1	15021	1509	53	5		5	SPANXN2	23	142795177	Silent	SNP	T	TCGA-EK-A2RN-01A-12D-A20U-09	11	142795177	12475383	170	17088			1	75		2	2	12	T		6.004984e-05
FMR1	2332	genome.wustl.edu	37	chrX	147010263	147010263	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.42603550295858	72	1.72705636108602e-21	3.33221234686524	4.40464850447704	3.04688529575751	1.87721968057246e-07	3.64180618031057e-06	50	agatctgttaatcccaacaaAcctgccacaaaagatacttt	4	11	1	2	rs201580891|rs368150235		TCGA-EK-A2RN-01A-12D-A20U-09	TCGA-EK-A2RN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ff6778d0-314d-4e6b-abf8-e60c3308c539	eb51413f-8868-4aac-819e-1f6b8931c4c0	g.chrX:147010263A>G	ENST00000370475.4	+	5	485	c.357A>G	c.(355-357)aaA>aaG	p.K119K	FMR1_ENST00000218200.8_Silent_p.K119K|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Silent_p.K119K|FMR1_ENST00000370471.3_Silent_p.K119K|FMR1_ENST00000370470.1_Silent_p.K119K|FMR1_ENST00000370477.1_Silent_p.K119K|FMR1_ENST00000334557.6_Silent_p.K119K	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	119					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCCAACAAACCTGCCACAA	0.358									Fragile X syndrome																																								0													86	82	83					X																	147010263		2203	4298	6501	SO:0001819	synonymous_variant	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.357A>G	X.37:g.147010263A>G			A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.K119	ENST00000370475.4	37	c.357	CCDS14682.1	X																																																																																			FMR1	-	NULL		0.358	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	A	NM_002024		147010263	1	no_errors	ENST00000370475	ensembl	human	known	70_37	silent	SNP	1.000	G	G	147010263	A	G	147010263	2	3	114	1	0	0	0	0	0	0	0	1	5978	40	2	5		5	FMR1	23	147010263	Silent	SNP	A	TCGA-EK-A2RN-01A-12D-A20U-09	4215086	147010263	8260297	171	17089										
DNAJC16	23341	genome.wustl.edu	37	chr1	15863003	15863003	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aagaaaagagatcaaattatGatcaatatggagacgctgga	10	4	2	4			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:15863003G>A	ENST00000375847.3	+	4	432	c.268G>A	c.(268-270)Gat>Aat	p.D90N	DNAJC16_ENST00000375838.1_Missense_Mutation_p.D90N|DNAJC16_ENST00000375849.1_Missense_Mutation_p.D90N	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	90	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATCAAATTATGATCAATATGG	0.363																																																	0													44	46	45					1																	15863003		2202	4300	6502	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.268G>A	1.37:g.15863003G>A	ENSP00000365007:p.Asp90Asn		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D90N	ENST00000375847.3	37	c.268	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466537	0.84425	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	D;D;D	0.82433	-1.61;-1.61;-1.61	5.92	5.92	0.95590	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.71036	2.16	0.36912	D	0.890975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92643	0.6126	10	0.87932	D	0	-25.5639	18.8844	0.92370	0.0:0.0:1.0:0.0	.	90;90	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	N	90	ENSP00000365007:D90N;ENSP00000364998:D90N;ENSP00000365009:D90N	ENSP00000364998:D90N	D	+	1	0	DNAJC16	15735590	1.000000	0.71417	0.131000	0.22000	0.415000	0.31203	8.596000	0.90844	2.809000	0.96659	0.655000	0.94253	GAT	DNAJC16	-	pfam_DnaJ_N,superfamily_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.363	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	G	NM_015291		15863003	1	no_errors	ENST00000375847	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15863003	G	A	15863003	3	1	115	1	0	0	0	0	1	0	0	0	4645	1290	45	1	278	1	DNAJC16	1	15863003	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		15863003	233387618	1	17090										
BAI2	576	genome.wustl.edu	37	chr1	32196648	32196648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctcgccggggggtcccctccGgccgggccctgggggcatcc	17	18	0	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:32196648G>A	ENST00000373658.3	-	29	4474	c.4133C>T	c.(4132-4134)cCg>cTg	p.P1378L	BAI2_ENST00000440175.2_Missense_Mutation_p.P987L|BAI2_ENST00000373655.2_Missense_Mutation_p.P1378L|BAI2_ENST00000398542.1_Missense_Mutation_p.P1278L|BAI2_ENST00000398556.3_Missense_Mutation_p.P1293L|BAI2_ENST00000257070.4_Missense_Mutation_p.P1345L|BAI2_ENST00000398538.1_Missense_Mutation_p.P1366L|BAI2_ENST00000527361.1_Missense_Mutation_p.P1345L|BAI2_ENST00000398547.1_Missense_Mutation_p.P1311L|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1378					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTCCCCTCCGGCCGGGCCCT	0.716																																																	0													7	10	9					1																	32196648		2168	4237	6405	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4133C>T	1.37:g.32196648G>A	ENSP00000362762:p.Pro1378Leu		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P1378L	ENST00000373658.3	37	c.4133	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670385	0.29693	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.42513	1.64;1.86;1.03;1.03;2.02;0.97;0.97;1.67;1.06	5.47	5.47	0.80525	.	0.173245	0.28252	N	0.016037	T	0.30293	0.0760	L	0.36672	1.1	0.53005	D	0.999962	B;P;B;D;P;P;B	0.56746	0.1;0.786;0.269;0.977;0.906;0.68;0.087	B;B;B;B;P;B;B	0.44422	0.008;0.306;0.056;0.32;0.449;0.161;0.031	T	0.06570	-1.0819	10	0.08381	T	0.77	.	8.7877	0.34832	0.1609:0.0:0.8391:0.0	.	1345;1366;987;1293;1378;1378;1366	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	L	1293;1311;1378;1378;1278;1345;1345;987;1366	ENSP00000381564:P1293L;ENSP00000381555:P1311L;ENSP00000362762:P1378L;ENSP00000362759:P1378L;ENSP00000381550:P1278L;ENSP00000257070:P1345L;ENSP00000435397:P1345L;ENSP00000391071:P987L;ENSP00000381548:P1366L	ENSP00000257070:P1345L	P	-	2	0	BAI2	31969235	0.143000	0.22626	0.997000	0.53966	0.637000	0.38172	2.742000	0.47434	2.735000	0.93741	0.655000	0.94253	CCG	BAI2	-	NULL		0.716	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32196648	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	0.988	A	A	32196648	G	A	32196648	3	1	115	1	0	0	0	0	1	0	0	0	1300	1116	39	2	644	2	BAI2	1	32196648	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	16333645	32196648	217053973	2	17091										
ZC3H12A	80149	genome.wustl.edu	37	chr1	37946015	37946015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggaaggagcagcctcggcccGacgtgcccatcacaggtgag	15	13	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:37946015G>A	ENST00000373087.6	+	3	684	c.568G>A	c.(568-570)Gac>Aac	p.D190N		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCGGCCCGACGTGCCCAT	0.622																																																	0													64	54	57					1																	37946015		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.568G>A	1.37:g.37946015G>A	ENSP00000362179:p.Asp190Asn			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D190N	ENST00000373087.6	37	c.568	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.201995	0.94997	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.46451	0.87	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.051083	0.85682	D	0.000000	T	0.59649	0.2209	L	0.50847	1.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58624	-0.7604	10	0.42905	T	0.14	-19.5756	18.2296	0.89929	0.0:0.0:1.0:0.0	.	190	Q5D1E8	ZC12A_HUMAN	N	190	ENSP00000362179:D190N	ENSP00000362174:D190N	D	+	1	0	ZC3H12A	37718602	1.000000	0.71417	0.657000	0.29651	0.967000	0.64934	9.414000	0.97362	2.387000	0.81309	0.563000	0.77884	GAC	ZC3H12A	-	pfam_RNase_Zc3h12		0.622	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	G	NM_025079		37946015	1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	0.999	A	A	37946015	G	A	37946015	3	1	115	1	0	0	0	0	1	0	0	0	17591	1058	37	1	574	1	ZC3H12A	1	37946015	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	5749367	37946015	211304606	3	17092										
MACF1	23499	genome.wustl.edu	37	chr1	39802262	39802262	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggcagtgaacaaactcccttCatgactgcacctgaaggaaa	9	11	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:39802262C>T	ENST00000372915.3	+	36	10104	c.10017C>T	c.(10015-10017)ttC>ttT	p.F3339F	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.F3371F|MACF1_ENST00000289893.4_Silent_p.F1774F|MACF1_ENST00000564288.1_Silent_p.F3334F|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3339					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACTCCCTTCATGACTGCAC	0.458																																																	0													62	59	60					1																	39802262		2201	4300	6501	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10017C>T	1.37:g.39802262C>T			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.F3371	ENST00000372915.3	37	c.10113		1																																																																																			MACF1	-	superfamily_RNaseH-like_dom		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39802262	1	no_errors	ENST00000567887	ensembl	human	putative	70_37	silent	SNP	0.000	T	T	39802262	C	T	39802262	2	4	115	1	0	0	0	0	0	0	0	1	9167	825	29	1		1	MACF1	1	39802262	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	1856247	39802262	209448359	4	17093										
LEPR	3953	genome.wustl.edu	37	chr1	66036280	66036280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ttgcctgctggactctcaaaGaatacttcaaattcgaatgg	8	9	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:66036280G>C	ENST00000349533.6	+	4	350	c.165G>C	c.(163-165)aaG>aaC	p.K55N	snoU13_ENST00000459362.1_RNA|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.K55N|LEPR_ENST00000344610.8_Missense_Mutation_p.K55N|LEPR_ENST00000371058.1_Missense_Mutation_p.K55N|LEPR_ENST00000371060.3_Missense_Mutation_p.K55N|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GACTCTCAAAGAATACTTCAA	0.363																																																	0													123	121	121					1																	66036280		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.165G>C	1.37:g.66036280G>C	ENSP00000330393:p.Lys55Asn		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K55N	ENST00000349533.6	37	c.165	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237408	0.22711	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57752	0.41;0.43;0.42;0.38;0.41	5.56	1.34	0.21922	.	0.843371	0.11339	N	0.574252	T	0.15609	0.0376	L	0.38838	1.175	0.19575	N	0.999969	B;B;B;B	0.15141	0.003;0.003;0.001;0.012	B;B;B;B	0.13407	0.004;0.004;0.009;0.009	T	0.27839	-1.0062	10	0.20519	T	0.43	-0.5508	4.2036	0.10478	0.0856:0.2764:0.493:0.145	.	55;55;55;55	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	N	55	ENSP00000340884:K55N;ENSP00000330393:K55N;ENSP00000360099:K55N;ENSP00000360098:K55N;ENSP00000360097:K55N	ENSP00000340884:K55N	K	+	3	2	LEPR	65808868	0.160000	0.22878	0.770000	0.31555	0.892000	0.51952	0.838000	0.27572	-0.004000	0.14419	0.460000	0.39030	AAG	LEPR	-	NULL		0.363	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	G	NM_002303		66036280	1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.076	C	C	66036280	G	C	66036280	3	2	115	1	0	0	0	0	1	0	0	0	8748	933	33	1	171	1	LEPR	1	66036280	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	26234018	66036280	183214341	5	17094										
IL12RB2	3595	genome.wustl.edu	37	chr1	67861644	67861644	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctctcgctgactctctggaaGaactggagcctcagcacatc	9	14	3	2	rs371557250		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:67861644G>A	ENST00000262345.1	+	16	3101	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.E735K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	821					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCTCTGGAAGAACTGGAGCC	0.527																																																	0								G	LYS/GLU	0,4406		0,0,2203	271	258	262		2461	4.4	0.7	1		262	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL12RB2	NM_001559.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	821/863	67861644	1,13005	2203	4300	6503	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2461G>A	1.37:g.67861644G>A	ENSP00000262345:p.Glu821Lys		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E821K	ENST00000262345.1	37	c.2461	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791360	0.50102	0.0	1.16E-4	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.49720	0.77;1.73	5.29	4.36	0.52297	.	0.423880	0.26971	N	0.021574	T	0.32912	0.0845	N	0.19112	0.55	0.80722	D	1	D;P	0.62365	0.991;0.651	P;B	0.56563	0.801;0.165	T	0.13791	-1.0496	10	0.49607	T	0.09	-8.9469	9.1779	0.37123	0.0981:0.0:0.9019:0.0	.	735;821	F5H7L6;Q99665	.;I12R2_HUMAN	K	821;735	ENSP00000262345:E821K;ENSP00000442443:E735K	ENSP00000262345:E821K	E	+	1	0	IL12RB2	67634232	0.995000	0.38212	0.684000	0.30055	0.070000	0.16714	2.500000	0.45381	2.643000	0.89663	0.591000	0.81541	GAA	IL12RB2	-	NULL		0.527	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	G	NM_001559		67861644	1	no_errors	ENST00000262345	ensembl	human	known	70_37	missense	SNP	0.820	A	A	67861644	G	A	67861644	3	1	115	1	0	0	0	0	1	0	0	0	7647	943	33	1	2519	1	IL12RB2	1	67861644	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	1825364	67861644	181388977	6	17095										
ATXN7L2	127002	genome.wustl.edu	37	chr1	110032595	110032595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aattggatgatgaaggccccTgtggtggtgatggggaccca	16	7	0	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:110032595T>C	ENST00000369870.3	+	8	1096	c.1081T>C	c.(1081-1083)Tgt>Cgt	p.C361R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	361										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGAAGGCCCCTGTGGTGGTGA	0.632																																																	0													86	95	92					1																	110032595		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1081T>C	1.37:g.110032595T>C	ENSP00000358886:p.Cys361Arg			Missense_Mutation	SNP	pfam_SCA7_dom	p.C361R	ENST00000369870.3	37	c.1081	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	T	5.821	0.335665	0.11013	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.28454	1.61	5.68	4.54	0.55810	.	0.253689	0.35838	N	0.002956	T	0.10035	0.0246	L	0.40543	1.245	0.49483	D	0.999798	B	0.21381	0.055	B	0.19148	0.024	T	0.08027	-1.0742	10	0.16420	T	0.52	1.5105	10.1481	0.42776	0.0:0.0:0.3234:0.6766	.	361	Q5T6C5	AT7L2_HUMAN	R	361	ENSP00000358886:C361R	ENSP00000358886:C361R	C	+	1	0	ATXN7L2	109834118	0.035000	0.19736	0.984000	0.44739	0.993000	0.82548	0.187000	0.16998	0.966000	0.38159	0.459000	0.35465	TGT	ATXN7L2	-	NULL		0.632	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	T	NM_153340		110032595	1	no_errors	ENST00000369870	ensembl	human	known	70_37	missense	SNP	0.701	C	C	110032595	T	C	110032595	3	2	115	1	0	0	0	0	1	0	0	0	1218	1580	55	5	1111	5	ATXN7L2	1	110032595	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09	42170951	110032595	139218026	7	17096										
SV2A	9900	genome.wustl.edu	37	chr1	149876728	149876728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gccagcttacacagggcattCaggaagccaaaagctgtggt	12	10	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:149876728C>T	ENST00000369146.3	-	13	2557	c.2067G>A	c.(2065-2067)ctG>ctA	p.L689L		NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	689					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACAGGGCATTCAGGAAGCCAA	0.587																																																	0													45	36	39					1																	149876728		2203	4300	6503	SO:0001819	synonymous_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2067G>A	1.37:g.149876728C>T			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.L689	ENST00000369146.3	37	c.2067	CCDS940.1	1																																																																																			SV2A	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.587	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1	C			149876728	-1	no_errors	ENST00000369146	ensembl	human	known	70_37	silent	SNP	1.000	T	T	149876728	C	T	149876728	2	4	115	1	0	0	0	0	0	0	0	1	15447	813	29	1		1	SV2A	1	149876728	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	39844133	149876728	99373893	8	17097										
USP21	27005	genome.wustl.edu	37	chr1	161134399	161134399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gattccctcgaatcctcgtgCtccatatcctaatcttcaga	5	14	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:161134399C>T	ENST00000289865.8	+	10	1602	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F	PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000493054.1_3'UTR|USP21_ENST00000368001.1_Missense_Mutation_p.L461F|USP21_ENST00000368002.3_Missense_Mutation_p.L461F|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000367999.4_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	461	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AATCCTCGTGCTCCATATCCT	0.403																																																	0													94	85	88					1																	161134399		2203	4300	6503	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1381C>T	1.37:g.161134399C>T	ENSP00000289865:p.Leu461Phe		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L461F	ENST00000289865.8	37	c.1381	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676558	0.67928	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.03717	3.83;3.83;3.83	5.09	5.09	0.68999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.197869	0.40640	N	0.001051	T	0.07458	0.0188	L	0.35644	1.08	0.46078	D	0.99885	D	0.76494	0.999	D	0.69824	0.966	T	0.25257	-1.0137	10	0.87932	D	0	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	461	Q9UK80	UBP21_HUMAN	F	461	ENSP00000356981:L461F;ENSP00000289865:L461F;ENSP00000356980:L461F	ENSP00000289865:L461F	L	+	1	0	USP21	159401023	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.001000	0.40825	2.632000	0.89209	0.555000	0.69702	CTC	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.403	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	C			161134399	1	no_errors	ENST00000289865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	161134399	C	T	161134399	3	4	115	1	0	0	0	0	1	0	0	0	17084	797	28	4	1415	4	USP21	1	161134399	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	11257671	161134399	88116222	9	17098										
DDR2	4921	genome.wustl.edu	37	chr1	162748502	162748502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	agaatactggagagttcttcCgagaccaagggaggcaggta	14	7	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:162748502C>T	ENST00000367922.3	+	18	2854	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.R806*|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	AGAGTTCTTCCGAGACCAAGG	0.488																																					NSCLC(161;314 2006 8283 19651 23192)												0													109	105	107					1																	162748502		2203	4300	6503	SO:0001587	stop_gained	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2416C>T	1.37:g.162748502C>T	ENSP00000356899:p.Arg806*		Q7Z730	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R806*	ENST00000367922.3	37	c.2416	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.297386	0.99378	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	.	.	.	5.49	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.029	0.64604	0.1611:0.8389:0.0:0.0	.	.	.	.	X	806	.	ENSP00000356898:R806X	R	+	1	2	DDR2	161015126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.902000	0.28459	1.268000	0.44264	0.655000	0.94253	CGA	DDR2	-	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,pfscan_Prot_kinase_cat_dom		0.488	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162748502	1	no_errors	ENST00000367921	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	162748502	C	T	162748502	4	4	115	1	0	0	0	0	0	1	0	0	4342	644	23	2	2474	2	DDR2	1	162748502	Nonsense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	1614103	162748502	86502119	10	17099										
DUSP27	92235	genome.wustl.edu	37	chr1	167097688	167097688	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaaagagaggacagaaaacaGagaagaagggaggtttgcat	15	3	0	4			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:167097688G>A	ENST00000361200.2	+	6	3486	c.3320G>A	c.(3319-3321)aGa>aAa	p.R1107K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1107K|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1107K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1107					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACAGAAAACAGAGAAGAAGGG	0.493																																																	0													44	40	41					1																	167097688		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3320G>A	1.37:g.167097688G>A	ENSP00000354483:p.Arg1107Lys		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R1107K	ENST00000361200.2	37	c.3320	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	7.750	0.703075	0.15172	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03035	4.07;4.07;4.07	5.4	3.4	0.38934	.	0.280558	0.26268	N	0.025357	T	0.01124	0.0037	L	0.57536	1.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47947	-0.9077	10	0.19590	T	0.45	-16.0603	2.332	0.04238	0.2082:0.1581:0.4917:0.1419	.	1107	Q5VZP5	DUS27_HUMAN	K	1107	ENSP00000354483:R1107K;ENSP00000271385:R1107K;ENSP00000404874:R1107K	ENSP00000271385:R1107K	R	+	2	0	DUSP27	165364312	0.091000	0.21658	0.996000	0.52242	0.944000	0.59088	0.890000	0.28295	1.286000	0.44565	0.549000	0.68633	AGA	DUSP27	-	NULL		0.493	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167097688	1	no_errors	ENST00000271385	ensembl	human	known	70_37	missense	SNP	0.015	A	A	167097688	G	A	167097688	3	1	115	1	0	0	0	0	1	0	0	0	4834	942	33	1	3338	1	DUSP27	1	167097688	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	4349186	167097688	82152933	11	17100										
PTPRC	5788	genome.wustl.edu	37	chr1	198704312	198704314	+	In_Frame_Del	DEL	TGT	TGT	-													0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggcactcgggcttttggagaTgttgttgtaaagatcaacca					rs146726593	byFrequency	TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:198704312_198704314delTGT	ENST00000367376.2	+	23	2499_2501	c.2328_2330delTGT	c.(2326-2331)gatgtt>gat	p.V779del	PTPRC_ENST00000352140.3_In_Frame_Del_p.V731del|PTPRC_ENST00000442510.2_In_Frame_Del_p.V781del|PTPRC_ENST00000348564.6_In_Frame_Del_p.V620del|PTPRC_ENST00000594404.1_In_Frame_Del_p.V618del	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	779	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTTTGGAGATGTTGTTGTAAAG	0.31																																																	0																																										SO:0001651	inframe_deletion	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2328_2330delTGT	1.37:g.198704318_198704320delTGT	ENSP00000356346:p.Val779del		A8K7W6|Q16614|Q9H0Y6	In_Frame_Del	DEL	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V781in_frame_del	ENST00000367376.2	37	c.2334_2336		1																																																																																			PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.31	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		TGT			198704314	1	no_errors	ENST00000442510	ensembl	human	known	70_37	in_frame_del	DEL	0.992:0.992:0.990	-	-	198704314	TGT	-	198704312	7	5	115	1	0	1	0	1	0	0	0	0	12827	1461	51	0	2425	0	PTPRC	1	198704312	In_Frame_Del	DEL	TGT	TCGA-EK-A2RO-01A-11D-A18J-09	31606624	198704312	50546309	12	17101										
MYBPH	4608	genome.wustl.edu	37	chr1	203143635	203143635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cagaactcactgcagacacgCgcaggaggaacttgtctccc	10	14	2	2	rs146696842		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:203143635C>T	ENST00000255416.4	-	3	488	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	144	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R144H(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGCAGACACGCGCAGGAGGAA	0.632													C|||	1	0.000199681	0	0	5008	,	,		16196	0		0	False		,,,				2504	0.001				NSCLC(32;174 1025 14462 23899 42933)												1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	50	50		431	5.7	1	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	MYBPH	NM_004997.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/478	203143635	1,13005	2203	4300	6503	SO:0001583	missense	4608			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.431G>A	1.37:g.203143635C>T	ENSP00000255416:p.Arg144His		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R144H	ENST00000255416.4	37	c.431	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895692	0.72639	2.27E-4	0.0	ENSG00000133055	ENST00000255416	T	0.60920	0.15	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000087	T	0.82075	0.4958	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86063	0.1533	10	0.87932	D	0	.	17.2606	0.87068	0.0:1.0:0.0:0.0	.	144	Q13203	MYBPH_HUMAN	H	144	ENSP00000255416:R144H	ENSP00000255416:R144H	R	-	2	0	MYBPH	201410258	1.000000	0.71417	0.952000	0.39060	0.030000	0.12068	6.598000	0.74122	2.681000	0.91329	0.655000	0.94253	CGC	MYBPH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	C	NM_004997		203143635	-1	no_errors	ENST00000255416	ensembl	human	known	70_37	missense	SNP	0.998	T	T	203143635	C	T	203143635	3	4	115	1	0	0	0	0	1	0	0	0	10037	768	27	2	1034	2	MYBPH	1	203143635	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	4439323	203143635	46106986	13	17102										
IL20	50604	genome.wustl.edu	37	chr1	207039699	207039699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aaggaggactgagtctttgcAagacacaaaggtatgtgctt	12	6	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:207039699A>G	ENST00000367098.1	+	3	578	c.215A>G	c.(214-216)cAa>cGa	p.Q72R	IL20_ENST00000391930.2_Missense_Mutation_p.Q72R|IL20_ENST00000367096.3_Missense_Mutation_p.Q72R			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GAGTCTTTGCAAGACACAAAG	0.493																																																	0													134	136	135					1																	207039699		2203	4300	6503	SO:0001583	missense	50604			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.215A>G	1.37:g.207039699A>G	ENSP00000356065:p.Gln72Arg		Q14CE5	Missense_Mutation	SNP	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24	p.Q72R	ENST00000367098.1	37	c.215	CCDS1470.1	1	.	.	.	.	.	.	.	.	.	.	A	8.750	0.921155	0.17982	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.18338	2.22;2.22;2.22	4.74	3.59	0.41128	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.551134	0.19113	N	0.122381	T	0.13927	0.0337	L	0.47190	1.495	0.28460	N	0.915924	B;B	0.16396	0.017;0.005	B;B	0.17722	0.011;0.019	T	0.24154	-1.0168	10	0.18710	T	0.47	-1.5823	8.0319	0.30470	0.8197:0.0:0.0:0.1803	.	72;72	Q2THG6;Q9NYY1	.;IL20_HUMAN	R	72	ENSP00000356065:Q72R;ENSP00000356063:Q72R;ENSP00000375796:Q72R	ENSP00000356063:Q72R	Q	+	2	0	IL20	205106322	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	2.051000	0.41307	0.742000	0.32697	0.528000	0.53228	CAA	IL20	-	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24		0.493	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20	HGNC	protein_coding	OTTHUMT00000088676.1	A	NM_018724		207039699	1	no_errors	ENST00000367096	ensembl	human	known	70_37	missense	SNP	1.000	G	G	207039699	A	G	207039699	3	3	115	1	0	0	0	0	1	0	0	0	7687	130	5	5	221	5	IL20	1	207039699	Missense_Mutation	SNP	A	TCGA-EK-A2RO-01A-11D-A18J-09	3896064	207039699	42210922	14	17103										
FAM71A	149647	genome.wustl.edu	37	chr1	212799050	212799050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gcaacaggggggattaaagaGgcagcagcagcaggggcagc	18	8	0	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:212799050G>T	ENST00000294829.3	+	1	1262	c.831G>T	c.(829-831)gaG>gaT	p.E277D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	277						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGATTAAAGAGgcagcagcag	0.552																																																	0													41	47	45					1																	212799050		2202	4300	6502	SO:0001583	missense	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.831G>T	1.37:g.212799050G>T	ENSP00000294829:p.Glu277Asp		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.E277D	ENST00000294829.3	37	c.831	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221562	0.09863	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03951	3.75	2.77	1.83	0.25207	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27887	0.084	T	0.48514	-0.9029	9	0.13470	T	0.59	.	5.6119	0.17410	0.1616:0.0:0.8384:0.0	.	277	Q8IYT1	FA71A_HUMAN	D	277;52	ENSP00000294829:E277D	ENSP00000294829:E277D	E	+	3	2	FAM71A	210865673	0.004000	0.15560	0.000000	0.03702	0.011000	0.07611	0.537000	0.23144	0.498000	0.27948	0.655000	0.94253	GAG	FAM71A	-	NULL		0.552	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	G	NM_153606		212799050	1	no_errors	ENST00000294829	ensembl	human	known	70_37	missense	SNP	0.001	T	T	212799050	G	T	212799050	3	4	115	1	0	0	0	0	1	0	0	0	5625	991	35	4	833	4	FAM71A	1	212799050	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	5759351	212799050	36451571	15	17104										
ITPKB	3707	genome.wustl.edu	37	chr1	226822561	226822561	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gcctgttccttcttgtcgtgGatgaagaggagggagctgcc	15	9	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:226822561G>C	ENST00000272117.3	-	7	2651	c.2652C>G	c.(2650-2652)atC>atG	p.I884M	ITPKB_ENST00000429204.1_Missense_Mutation_p.I884M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	884					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCTTGTCGTGGATGAAGAGGA	0.642																																					Colon(84;110 1851 5306 33547)												0													77	62	67					1																	226822561		2203	4300	6503	SO:0001583	missense	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2652C>G	1.37:g.226822561G>C	ENSP00000272117:p.Ile884Met		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.I884M	ENST00000272117.3	37	c.2652	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088161	0.55968	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.17054	2.3;2.3	5.06	4.15	0.48705	.	0.051027	0.85682	D	0.000000	T	0.31544	0.0800	L	0.52126	1.63	0.40857	D	0.983801	D	0.76494	0.999	D	0.79784	0.993	T	0.03453	-1.1035	10	0.51188	T	0.08	-23.1575	8.5311	0.33335	0.2261:0.0:0.7739:0.0	.	884	P27987	IP3KB_HUMAN	M	884	ENSP00000272117:I884M;ENSP00000411152:I884M	ENSP00000272117:I884M	I	-	3	3	ITPKB	224889184	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.464000	0.35288	1.138000	0.42230	0.561000	0.74099	ATC	ITPKB	-	pfam_IPK		0.642	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	G	NM_002221		226822561	-1	no_errors	ENST00000272117	ensembl	human	known	70_37	missense	SNP	1.000	C	C	226822561	G	C	226822561	3	2	115	1	0	0	0	0	1	0	0	0	7938	1164	41	1	192	1	ITPKB	1	226822561	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	14023511	226822561	22428060	16	17105										
OR2T8	343172	genome.wustl.edu	37	chr1	248084323	248084323	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cactcttatttgaaatcatgGaaaatgggagctatacctct	7	8	3	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:248084323G>C	ENST00000319968.4	+	1	4	c.4G>C	c.(4-6)Gaa>Caa	p.E2Q		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAAATCATGGAAAATGGGAG	0.378																																																	0													92	89	90					1																	248084323		2203	4300	6503	SO:0001583	missense	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.4G>C	1.37:g.248084323G>C	ENSP00000326225:p.Glu2Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E2Q	ENST00000319968.4	37	c.4	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747116	0.15710	.	.	ENSG00000177462	ENST00000319968	T	0.38401	1.14	3.65	1.76	0.24704	.	0.714071	0.11421	N	0.565806	T	0.24967	0.0606	L	0.41415	1.275	0.09310	N	1	B	0.23316	0.083	B	0.21917	0.037	T	0.34153	-0.9840	10	0.62326	D	0.03	.	1.1078	0.01698	0.2125:0.1734:0.4365:0.1775	.	2	A6NH00	OR2T8_HUMAN	Q	2	ENSP00000326225:E2Q	ENSP00000326225:E2Q	E	+	1	0	OR2T8	246150946	0.000000	0.05858	0.090000	0.20809	0.030000	0.12068	0.494000	0.22467	0.247000	0.21414	-0.216000	0.12614	GAA	OR2T8	-	NULL		0.378	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	G	NM_001005522		248084323	1	no_errors	ENST00000319968	ensembl	human	known	70_37	missense	SNP	0.046	C	C	248084323	G	C	248084323	3	2	115	1	0	0	0	0	1	0	0	0	11054	1175	41	1	6	1	OR2T8	1	248084323	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	21261762	248084323	1166298	17	17106										
OR2T6	254879	genome.wustl.edu	37	chr1	248551096	248551096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	acacccccatgtacttcctcCtcagccacctctccgtcatt	3	20	3	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr1:248551096C>T	ENST00000355728.2	+	1	187	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTACTTCCTCCTCAGCCACCT	0.488																																																	0													224	173	191					1																	248551096		2203	4300	6503	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.187C>T	1.37:g.248551096C>T	ENSP00000347965:p.Leu63Phe		A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L63F	ENST00000355728.2	37	c.187	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596585	0.66332	.	.	ENSG00000198104	ENST00000355728	T	0.14391	2.51	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	N	0.001021	T	0.57725	0.2073	H	0.99555	4.625	0.40778	D	0.983148	D	0.69078	0.997	D	0.69479	0.964	T	0.79848	-0.1630	10	0.87932	D	0	.	17.0694	0.86569	0.0:1.0:0.0:0.0	.	63	Q8NHC8	OR2T6_HUMAN	F	63	ENSP00000347965:L63F	ENSP00000347965:L63F	L	+	1	0	OR2T6	246617719	0.676000	0.27567	0.997000	0.53966	0.885000	0.51271	0.867000	0.27968	2.423000	0.82170	0.643000	0.83706	CTC	OR2T6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	C	NM_001005471		248551096	1	no_errors	ENST00000355728	ensembl	human	known	70_37	missense	SNP	1.000	T	T	248551096	C	T	248551096	3	4	115	1	0	0	0	0	1	0	0	0	11053	681	24	4	189	4	OR2T6	1	248551096	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	466773	248551096	699525	18	17107										
HK2	3099	genome.wustl.edu	37	chr2	75107455	75107455	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggctgcgatgtccgcttcctCcgctccgaggatggcagtgg	15	13	0	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:75107455C>T	ENST00000290573.2	+	10	1929	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	HK2_ENST00000409174.1_Silent_p.L415L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	443	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.L443L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TCCGCTTCCTCCGCTCCGAGG	0.617																																																	1	Substitution - coding silent(1)	breast(1)											117	131	126					2																	75107455		2203	4300	6503	SO:0001819	synonymous_variant	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1329C>T	2.37:g.75107455C>T			D6W5J2|Q8WU87|Q9UN82	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L443	ENST00000290573.2	37	c.1329	CCDS1956.1	2																																																																																			HK2	-	pfam_Hexokinase_C		0.617	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75107455	1	no_errors	ENST00000290573	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75107455	C	T	75107455	2	4	115	1	0	0	0	0	0	0	0	1	7211	842	30	1		1	HK2	2	75107455	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		75107455	168091918	19	17108										
LRRTM4	80059	genome.wustl.edu	37	chr2	77745633	77745633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gagtgttgctggagttgtttCatgctggctgggtagcgttt	16	5	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:77745633C>T	ENST00000409093.1	-	3	1698	c.1362G>A	c.(1360-1362)atG>atA	p.M454I	LRRTM4_ENST00000409884.1_Missense_Mutation_p.M454I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M455I|LRRTM4_ENST00000409088.3_Missense_Mutation_p.M454I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M455I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	454					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGAGTTGTTTCATGCTGGCTG	0.463																																																	0													63	63	63					2																	77745633		1950	4172	6122	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1362G>A	2.37:g.77745633C>T	ENSP00000386357:p.Met454Ile		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.M455I	ENST00000409093.1	37	c.1365	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558579	0.27827	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.68	5.68	0.88126	.	0.127376	0.64402	D	0.000001	T	0.68650	0.3024	L	0.40543	1.245	0.54753	D	0.999983	B;B;B	0.20459	0.011;0.045;0.026	B;B;B	0.19666	0.012;0.026;0.012	T	0.62144	-0.6916	10	0.30854	T	0.27	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	455;454;454	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	I	455;454;454;454;455	ENSP00000387228:M455I;ENSP00000387297:M454I;ENSP00000386357:M454I;ENSP00000386236:M454I;ENSP00000386286:M455I	ENSP00000386236:M454I	M	-	3	0	LRRTM4	77599141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.029000	0.64121	2.670000	0.90874	0.655000	0.94253	ATG	LRRTM4	-	NULL		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	C	NM_024993		77745633	-1	no_errors	ENST00000409911	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77745633	C	T	77745633	3	4	115	1	0	0	0	0	1	0	0	0	9065	826	29	1	424	1	LRRTM4	2	77745633	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	2638178	77745633	165453740	20	17109										
BCL2L11	10018	genome.wustl.edu	37	chr2	111907693	111907693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccaagagttgcggcgtattgGagacgagtttaacgcttact	12	8	0	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:111907693G>A	ENST00000393256.3	+	3	740	c.467G>A	c.(466-468)gGa>gAa	p.G156E	BCL2L11_ENST00000393253.2_Missense_Mutation_p.G66E|BCL2L11_ENST00000308659.8_Missense_Mutation_p.G96E|BCL2L11_ENST00000357757.2_Missense_Mutation_p.G156E	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	156					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CGGCGTATTGGAGACGAGTTT	0.443																																																	0													159	119	133					2																	111907693		2203	4300	6503	SO:0001583	missense	10018			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.467G>A	2.37:g.111907693G>A	ENSP00000376943:p.Gly156Glu		A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.G156E	ENST00000393256.3	37	c.467	CCDS2089.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822663	0.90873	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.89	5.89	0.94794	Bcl-x interacting (1);	0.000000	0.56097	D	0.000022	T	0.67515	0.2901	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69243	-0.5196	9	0.87932	D	0	-14.1923	15.7362	0.77846	0.0:0.0:1.0:0.0	.	66;156;96	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	E	96;156;66;156;23	.	ENSP00000309226:G96E	G	+	2	0	BCL2L11	111624164	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.870000	0.69620	2.791000	0.96007	0.591000	0.81541	GGA	BCL2L11	-	pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11		0.443	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	G			111907693	1	no_errors	ENST00000393256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111907693	G	A	111907693	3	1	115	1	0	0	0	0	1	0	0	0	1370	1174	41	1	602	1	BCL2L11	2	111907693	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	34162060	111907693	131291680	21	17110										
CXCR4	7852	genome.wustl.edu	37	chr2	136872498	136872498	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aacagatgaatgtccacctcGctttcctttggagaggatct	9	10	1	3	rs104893624		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:136872498G>A	ENST00000241393.3	-	2	1104	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	CXCR4_ENST00000409817.1_Nonsense_Mutation_p.R338*|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	334					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.R338*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGTCCACCTCGCTTTCCTTTG	0.438																																																	1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM030831	CXCR4	M	rs104893624						223	212	216					2																	136872498		2203	4300	6503	SO:0001587	stop_gained	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1000C>T	2.37:g.136872498G>A	ENSP00000241393:p.Arg334*		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.R338*	ENST00000241393.3	37	c.1012	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.093279	0.94149	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	.	.	.	5.95	5.0	0.66597	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9075	0.88923	0.0:0.0:0.8704:0.1296	.	.	.	.	X	338;334;204	.	ENSP00000241393:R334X	R	-	1	2	CXCR4	136588968	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.846000	0.48262	2.827000	0.97445	0.650000	0.86243	CGA	CXCR4	-	prints_Chemokine_CXCR4		0.438	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	G			136872498	-1	no_errors	ENST00000409817	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	136872498	G	A	136872498	4	1	115	1	0	0	0	0	0	1	0	0	4098	1095	38	2	62	2	CXCR4	2	136872498	Nonsense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	24964805	136872498	106326875	22	17111										
FSIP2	401024	genome.wustl.edu	37	chr2	186671174	186671174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aagccccccaggtgataatgTattaaatgtaattcaagaga	8	7	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:186671174T>C	ENST00000424728.1	+	17	17141	c.17141T>C	c.(17140-17142)gTa>gCa	p.V5714A	FSIP2_ENST00000343098.5_Missense_Mutation_p.V5803A			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5714										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGTGATAATGTATTAAATGTA	0.338																																																	0													86	81	82					2																	186671174		1810	4069	5879	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17141T>C	2.37:g.186671174T>C	ENSP00000401306:p.Val5714Ala		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.V5803A	ENST00000424728.1	37	c.17408		2	.	.	.	.	.	.	.	.	.	.	T	1.785	-0.480985	0.04383	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.39997	1.05;1.05	4.14	-2.76	0.05896	.	.	.	.	.	T	0.10252	0.0251	N	0.01352	-0.895	0.09310	N	1	.	.	.	.	.	.	T	0.28396	-1.0045	7	0.02654	T	1	.	3.1283	0.06414	0.3053:0.3143:0.0:0.3804	.	.	.	.	A	5803;5714	ENSP00000344403:V5803A;ENSP00000401306:V5714A	ENSP00000344403:V5803A	V	+	2	0	FSIP2	186379419	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.883000	0.04170	-0.530000	0.06349	-0.285000	0.09966	GTA	FSIP2	-	NULL		0.338	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	T	NM_173651		186671174	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.000	C	C	186671174	T	C	186671174	3	2	115	1	0	0	0	0	1	0	0	0	6093	1638	57	5	17474	5	FSIP2	2	186671174	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09	49798676	186671174	56528199	23	17112										
NIF3L1	60491	genome.wustl.edu	37	chr2	201756712	201756712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tccccacgacagtccggtttGtagattccctgatctgcaat	8	13	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:201756712G>A	ENST00000409020.1	+	2	340	c.46G>A	c.(46-48)Gta>Ata	p.V16I	PPIL3_ENST00000465823.1_5'Flank|PPIL3_ENST00000409449.1_5'Flank|NIF3L1_ENST00000416651.1_Missense_Mutation_p.V16I|PPIL3_ENST00000409361.1_5'Flank|PPIL3_ENST00000392283.4_5'Flank|NIF3L1_ENST00000409588.1_Missense_Mutation_p.V16I|NIF3L1_ENST00000409357.1_Missense_Mutation_p.V16I|NIF3L1_ENST00000359683.4_5'UTR|PPIL3_ENST00000286175.8_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	16					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AGTCCGGTTTGTAGATTCCCT	0.443																																																	0													81	75	77					2																	201756712		1950	4143	6093	SO:0001583	missense	60491			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.46G>A	2.37:g.201756712G>A	ENSP00000386394:p.Val16Ile		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	p.V16I	ENST00000409020.1	37	c.46	CCDS46485.1	2	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605695	0.28623	.	.	ENSG00000196290	ENST00000416651;ENST00000454952;ENST00000409020;ENST00000409357;ENST00000374679;ENST00000409588	T;T;T	0.43688	0.94;0.94;0.94	4.89	-1.14	0.09741	.	.	.	.	.	T	0.23210	0.0561	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.19647	-1.0299	9	0.26408	T	0.33	-0.2249	3.3797	0.07249	0.245:0.1212:0.522:0.1117	.	16;16	Q6X735;Q9GZT8	.;NIF3L_HUMAN	I	16	ENSP00000400787:V16I;ENSP00000386394:V16I;ENSP00000387315:V16I	ENSP00000363811:V16I	V	+	1	0	NIF3L1	201464957	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	0.218000	0.17622	-0.071000	0.12886	-0.463000	0.05309	GTA	NIF3L1	-	pirsf_UCP037490_NIF3_euk		0.443	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NIF3L1	HGNC	protein_coding	OTTHUMT00000336201.1	G	NM_021824		201756712	1	no_errors	ENST00000409020	ensembl	human	known	70_37	missense	SNP	0.000	A	A	201756712	G	A	201756712	3	1	115	1	0	0	0	0	1	0	0	0	10440	1377	48	4	48	4	NIF3L1	2	201756712	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	15085538	201756712	41442661	24	17113										
STK11IP	114790	genome.wustl.edu	37	chr2	220473076	220473076	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gggaaggaggagaaggaggaGggggagatggtggaacaggg	25	1	0	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr2:220473076G>T	ENST00000456909.1	+	14	1617	c.1527G>T	c.(1525-1527)gaG>gaT	p.E509D	STK11IP_ENST00000295641.10_Missense_Mutation_p.E520D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	520	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agaaggaggagggggagatgg	0.612																																																	0													8	10	9					2																	220473076		2100	4206	6306	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1527G>T	2.37:g.220473076G>T	ENSP00000389383:p.Glu509Asp		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E509D	ENST00000456909.1	37	c.1527		2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334734	0.24253	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05717	3.4;3.4	4.82	1.62	0.23740	.	1.225880	0.06226	N	0.687849	T	0.06554	0.0168	L	0.56769	1.78	0.19575	N	0.999968	P;P;B	0.37276	0.589;0.589;0.435	B;B;B	0.32864	0.107;0.107;0.154	T	0.41305	-0.9516	10	0.18710	T	0.47	1.627	3.5592	0.07875	0.516:0.0:0.3113:0.1727	.	488;520;520	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	D	509;488;520	ENSP00000389383:E509D;ENSP00000295641:E520D	ENSP00000295641:E520D	E	+	3	2	STK11IP	220181320	0.002000	0.14202	0.003000	0.11579	0.016000	0.09150	-0.069000	0.11542	0.105000	0.17753	-0.367000	0.07326	GAG	STK11IP	-	NULL		0.612	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220473076	1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.041	T	T	220473076	G	T	220473076	3	4	115	1	0	0	0	0	1	0	0	0	15318	991	35	4	1614	4	STK11IP	2	220473076	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	18716364	220473076	22726297	25	17114										
COL8A1	1295	genome.wustl.edu	37	chr3	99509748	99509748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cttgccatgggcaaggagatGccccacttgcagtatggcaa	12	11	0	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr3:99509748G>A	ENST00000261037.3	+	4	602	c.222G>A	c.(220-222)atG>atA	p.M74I	COL8A1_ENST00000273342.4_Missense_Mutation_p.M74I	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	74	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCAAGGAGATGCCCCACTTGC	0.522																																																	0													80	77	78					3																	99509748		2203	4300	6503	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.222G>A	3.37:g.99509748G>A	ENSP00000261037:p.Met74Ile		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.M74I	ENST00000261037.3	37	c.222	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581091	0.28180	.	.	ENSG00000144810	ENST00000261037;ENST00000452013;ENST00000273342	D;D	0.90504	-2.68;-2.68	5.54	4.65	0.58169	.	0.382752	0.29286	N	0.012582	T	0.77955	0.4208	N	0.08118	0	0.36032	D	0.839498	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.73017	-0.4115	10	0.22109	T	0.4	.	7.8213	0.29290	0.0859:0.1651:0.7491:0.0	.	74;74	E7EPK9;P27658	.;CO8A1_HUMAN	I	74	ENSP00000261037:M74I;ENSP00000273342:M74I	ENSP00000261037:M74I	M	+	3	0	COL8A1	100992438	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.381000	0.34362	1.314000	0.45095	0.563000	0.77884	ATG	COL8A1	-	NULL		0.522	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99509748	1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99509748	G	A	99509748	3	1	115	1	0	0	0	0	1	0	0	0	3710	1319	46	4	224	4	COL8A1	3	99509748	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		99509748	98512682	26	17115										
MRPS22	56945	genome.wustl.edu	37	chr3	139063000	139063000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	caaccgctaccttgctctttCgagatggggctgccacgccg	11	15	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr3:139063000C>G	ENST00000495075.1	+	3	564	c.132C>G	c.(130-132)ttC>ttG	p.F44L	MRPS22_ENST00000478464.1_5'Flank|MRPS22_ENST00000465056.1_Missense_Mutation_p.F44L|MRPS22_ENST00000310776.4_Missense_Mutation_p.F44L			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	44						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CTTGCTCTTTCGAGATGGGGC	0.627																																																	0													19	21	20					3																	139063000		2203	4300	6503	SO:0001583	missense	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.132C>G	3.37:g.139063000C>G	ENSP00000418008:p.Phe44Leu		Q9H3I1	Missense_Mutation	SNP	pfam_Ribosomal_S22_mit	p.F44L	ENST00000495075.1	37	c.132	CCDS3107.1	3	.	.	.	.	.	.	.	.	.	.	C	2.849	-0.238836	0.05944	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373	D;D;D;T	0.81821	-1.54;-1.54;-1.54;-0.98	4.01	2.2	0.27929	.	0.690284	0.13403	N	0.390478	T	0.59742	0.2216	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44817	-0.9303	10	0.02654	T	1	-0.0076	6.0203	0.19625	0.0:0.7611:0.0:0.2389	.	44;44	G5E9V5;P82650	.;RT22_HUMAN	L	44;44;44;40	ENSP00000418008:F44L;ENSP00000310785:F44L;ENSP00000418233:F44L;ENSP00000419920:F40L	ENSP00000310785:F44L	F	+	3	2	MRPS22	140545690	0.001000	0.12720	0.007000	0.13788	0.009000	0.06853	-0.236000	0.09003	0.471000	0.27319	0.591000	0.81541	TTC	MRPS22	-	NULL		0.627	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS22	HGNC	protein_coding	OTTHUMT00000358120.1	C	NM_020191		139063000	1	no_errors	ENST00000310776	ensembl	human	known	70_37	missense	SNP	0.009	G	G	139063000	C	G	139063000	3	3	115	1	0	0	0	0	1	0	0	0	9856	883	31	1	134	1	MRPS22	3	139063000	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	39553252	139063000	58959430	27	17116										
GPR149	344758	genome.wustl.edu	37	chr3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tactttttttcccatcggacGccactgcatatgcgttctgc	7	13	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr3:154145322G>A	ENST00000389740.2	-	2	1256	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	386					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488																																																	0													68	70	69					3																	154145322		1998	4178	6176	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1157C>T	3.37:g.154145322G>A	ENSP00000374390:p.Ala386Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A386V	ENST00000389740.2	37	c.1157	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260903	0.59431	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.91	5.91	0.95273	.	0.641076	0.17169	N	0.184345	T	0.38026	0.1025	L	0.50333	1.59	0.09310	N	0.999993	P	0.42161	0.772	B	0.27262	0.078	T	0.47548	-0.9109	9	0.72032	D	0.01	-2.6203	20.2985	0.98592	0.0:0.0:1.0:0.0	.	386	Q86SP6	GP149_HUMAN	V	386	.	ENSP00000374390:A386V	A	-	2	0	GPR149	155628016	0.852000	0.29690	0.010000	0.14722	0.040000	0.13550	4.991000	0.63883	2.793000	0.96121	0.655000	0.94253	GCG	GPR149	-	NULL		0.488	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	G	XM_293580		154145322	-1	no_errors	ENST00000389740	ensembl	human	known	70_37	missense	SNP	0.153	A	A	154145322	G	A	154145322	3	1	115	1	0	0	0	0	1	0	0	0	6673	1087	38	2	1050	2	GPR149	3	154145322	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	15082322	154145322	43877108	28	17117										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	115	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	24790769	178936091	19086339	29	17118										
GRID2	2895	genome.wustl.edu	37	chr4	94006335	94006335	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaatgatgactacactctctCagttcgcccacctgtctact	6	14	3	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr4:94006335C>G	ENST00000282020.4	+	3	692	c.434C>G	c.(433-435)tCa>tGa	p.S145*	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	145					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TACACTCTCTCAGTTCGCCCA	0.483																																																	0													100	94	96					4																	94006335		2203	4300	6503	SO:0001587	stop_gained	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.434C>G	4.37:g.94006335C>G	ENSP00000282020:p.Ser145*		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Nonsense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S145*	ENST00000282020.4	37	c.434	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.706627	0.97776	.	.	ENSG00000152208	ENST00000282020	.	.	.	5.23	5.23	0.72850	.	0.259259	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.4886	0.61382	0.0:0.9246:0.0:0.0754	.	.	.	.	X	145	.	ENSP00000282020:S145X	S	+	2	0	GRID2	94225358	0.823000	0.29233	0.582000	0.28627	0.961000	0.63080	2.426000	0.44731	2.613000	0.88420	0.655000	0.94253	TCA	GRID2	-	pfam_ANF_lig-bd_rcpt		0.483	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	C			94006335	1	no_errors	ENST00000282020	ensembl	human	known	70_37	nonsense	SNP	0.907	G	G	94006335	C	G	94006335	4	3	115	1	0	0	0	0	0	1	0	0	6792	838	29	1	444	1	GRID2	4	94006335	Nonsense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		94006335	97147941	30	17119										
ANK2	287	genome.wustl.edu	37	chr4	114281990	114281990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cttctccagatccacaggatGagcaggaacggatcgaggaa	12	10	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr4:114281990G>A	ENST00000357077.4	+	39	10746	c.10693G>A	c.(10693-10695)Gag>Aag	p.E3565K	ANK2_ENST00000506722.1_Missense_Mutation_p.E1471K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1480K|ANK2_ENST00000264366.6_Missense_Mutation_p.E3532K|ANK2_ENST00000509550.1_Missense_Mutation_p.E656K|ANK2_ENST00000510275.2_Missense_Mutation_p.E132K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3565					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCACAGGATGAGCAGGAACG	0.453																																																	0													130	114	119					4																	114281990		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10693G>A	4.37:g.114281990G>A	ENSP00000349588:p.Glu3565Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3565K	ENST00000357077.4	37	c.10693	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803117	0.70682	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	T;T;T;T;T;D;D	0.96200	-0.3;-0.29;-0.31;-0.32;-1.07;-2.07;-3.94	5.28	5.28	0.74379	.	0.376588	0.22155	N	0.063872	D	0.93782	0.8012	L	0.38531	1.155	0.42968	D	0.994421	P;P;P;B;P;B	0.52061	0.881;0.611;0.577;0.012;0.95;0.452	B;B;B;B;P;B	0.48334	0.184;0.343;0.184;0.006;0.574;0.228	D	0.92059	0.5655	10	0.16896	T	0.51	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	656;515;481;1480;3565;1471	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.	K	1471;515;1480;3565;3532;1471;656;132;575	ENSP00000421067:E1471K;ENSP00000378044:E1480K;ENSP00000349588:E3565K;ENSP00000264366:E3532K;ENSP00000426944:E656K;ENSP00000421023:E132K;ENSP00000422498:E575K	ENSP00000264366:E3532K	E	+	1	0	ANK2	114501439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.263000	0.78421	2.487000	0.83934	0.557000	0.71058	GAG	ANK2	-	superfamily_DEATH-like,smart_Death		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114281990	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114281990	G	A	114281990	3	1	115	1	0	0	0	0	1	0	0	0	621	1291	45	1	10912	1	ANK2	4	114281990	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	20275655	114281990	76872286	31	17120										
PRSS12	8492	genome.wustl.edu	37	chr4	119259365	119259365	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gtgacaaatgactgatgcatCagaatcatcccagtggctgc	10	10	2	4			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr4:119259365C>G	ENST00000296498.3	-	2	889	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	203	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACTGATGCATCAGAATCATCC	0.498																																																	0													112	100	104					4																	119259365		2203	4300	6503	SO:0001583	missense	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.607G>C	4.37:g.119259365C>G	ENSP00000296498:p.Asp203His		Q9UP16	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.D203H	ENST00000296498.3	37	c.607	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.108650	0.94292	.	.	ENSG00000164099	ENST00000296498	T	0.37915	1.17	5.4	5.4	0.78164	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.186629	0.56097	D	0.000029	T	0.64483	0.2602	M	0.84433	2.695	0.21386	N	0.999705	D	0.76494	0.999	D	0.69479	0.964	T	0.61922	-0.6963	10	0.66056	D	0.02	.	17.3434	0.87303	0.0:1.0:0.0:0.0	.	203	P56730	NETR_HUMAN	H	203	ENSP00000296498:D203H	ENSP00000296498:D203H	D	-	1	0	PRSS12	119478813	0.988000	0.35896	0.009000	0.14445	0.919000	0.55068	3.616000	0.54174	2.531000	0.85337	0.467000	0.42956	GAT	PRSS12	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.498	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	C			119259365	-1	no_errors	ENST00000296498	ensembl	human	known	70_37	missense	SNP	0.177	G	G	119259365	C	G	119259365	3	3	115	1	0	0	0	0	1	0	0	0	12642	826	29	1	2068	1	PRSS12	4	119259365	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	4977375	119259365	71894911	32	17121										
SEC24D	9871	genome.wustl.edu	37	chr4	119738426	119738426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ataaaactattaccatagctGttgatttgcatagcactgag	7	7	0	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr4:119738426G>T	ENST00000280551.6	-	4	628	c.390C>A	c.(388-390)aaC>aaA	p.N130K	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.N130K			O94855	SC24D_HUMAN	SEC24 family member D	130	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TACCATAGCTGTTGATTTGCA	0.393																																																	0													122	120	121					4																	119738426		2203	4300	6503	SO:0001583	missense	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.390C>A	4.37:g.119738426G>T	ENSP00000280551:p.Asn130Lys		Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.N130K	ENST00000280551.6	37	c.390	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046061	0.19748	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.75367	-0.93;-0.93;0.73	5.2	3.43	0.39272	.	0.140084	0.56097	D	0.000033	T	0.54224	0.1845	L	0.27053	0.805	0.80722	D	1	P;B	0.38504	0.634;0.281	B;B	0.33620	0.167;0.056	T	0.49244	-0.8960	10	0.25106	T	0.35	-27.4279	6.8219	0.23862	0.2662:0.0:0.7338:0.0	.	130;130	O94855-2;O94855	.;SC24D_HUMAN	K	130	ENSP00000280551:N130K;ENSP00000369059:N130K;ENSP00000426309:N130K	ENSP00000280551:N130K	N	-	3	2	SEC24D	119957874	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	1.869000	0.39519	1.288000	0.44600	0.563000	0.77884	AAC	SEC24D	-	NULL		0.393	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	G			119738426	-1	no_errors	ENST00000379735	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119738426	G	T	119738426	3	4	115	1	0	0	0	0	1	0	0	0	14027	1368	48	4	2788	4	SEC24D	4	119738426	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	479061	119738426	71415850	33	17122										
C4orf46	201725	genome.wustl.edu	37	chr4	159592830	159592830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tgggccgctgctcctgctcgGaactggccagcccaaactca	11	16	1	0	rs140932563		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr4:159592830G>A	ENST00000379205.4	-	1	368	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000511912.1_5'Flank|C4orf46_ENST00000508457.1_Missense_Mutation_p.P42S|ETFDH_ENST00000307738.5_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	42								p.P42S(1)		kidney(1)|lung(3)|skin(1)	5						CTCCTGCTCGGAACTGGCCAG	0.687																																																	1	Substitution - Missense(1)	skin(1)											30	26	27					4																	159592830		2203	4300	6503	SO:0001583	missense	201725				CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"renal cancer differentiation gene 1"						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.124C>T	4.37:g.159592830G>A	ENSP00000368503:p.Pro42Ser		B3KNH7	Missense_Mutation	SNP	NULL	p.P42S	ENST00000379205.4	37	c.124	CCDS34088.1	4	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318053	0.40996	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.07	2.34	0.29019	.	0.834799	0.10096	N	0.716630	T	0.28566	0.0707	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23940	-1.0174	9	0.54805	T	0.06	.	9.0356	0.36284	0.185:0.0:0.815:0.0	.	42	Q504U0	CD046_HUMAN	S	42	.	ENSP00000368503:P42S	P	-	1	0	C4orf46	159812280	0.089000	0.21612	0.050000	0.19076	0.090000	0.18270	0.794000	0.26958	0.486000	0.27676	-0.251000	0.11542	CCG	C4orf46	-	NULL		0.687	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf46	HGNC	protein_coding	OTTHUMT00000366378.1	G	NM_001008393		159592830	-1	no_errors	ENST00000379205	ensembl	human	known	70_37	missense	SNP	0.088	A	A	159592830	G	A	159592830	3	1	115	1	0	0	0	0	1	0	0	0	2279	1174	41	1	225	1	C4orf46	4	159592830	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	39854404	159592830	31561446	34	17123										
MTRR	4552	genome.wustl.edu	37	chr5	7870902	7870902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gtttcactgttacatgccttGaagtgatgaggaggtttctg	12	6	2	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr5:7870902G>A	ENST00000264668.2	+	2	106	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	MTRR_ENST00000440940.2_5'UTR|FASTKD3_ENST00000513658.1_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'UTR|FASTKD3_ENST00000264669.5_5'Flank	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	26					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TACATGCCTTGAAGTGATGAG	0.393																																																	0													122	111	115					5																	7870902		2203	4300	6503	SO:0001583	missense	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.76G>A	5.37:g.7870902G>A	ENSP00000264668:p.Glu26Lys		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E26K	ENST00000264668.2	37	c.76	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689421	0.48097	.	.	ENSG00000124275	ENST00000264668	T	0.02236	4.38	5.8	4.04	0.47022	.	1.153770	0.06513	N	0.738310	T	0.01730	0.0055	N	0.08118	0	0.23089	N	0.998313	B	0.13145	0.007	B	0.10450	0.005	T	0.49312	-0.8953	10	0.18276	T	0.48	-8.0951	9.0541	0.36394	0.132:0.123:0.745:0.0	.	26	Q9UBK8	MTRR_HUMAN	K	26	ENSP00000264668:E26K	ENSP00000264668:E26K	E	+	1	0	MTRR	7923902	0.058000	0.20735	0.001000	0.08648	0.019000	0.09904	2.086000	0.41643	0.811000	0.34303	-0.121000	0.15023	GAA	MTRR	-	NULL		0.393	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1	G			7870902	1	no_errors	ENST00000264668	ensembl	human	known	70_37	missense	SNP	0.003	A	A	7870902	G	A	7870902	3	1	115	1	0	0	0	0	1	0	0	0	9984	1291	45	1	82	1	MTRR	5	7870902	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		7870902	173044358	35	17124										
THBS4	7060	genome.wustl.edu	37	chr5	79335943	79335943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	agtcagaggctaaacccaggCgctctgctgccagtcctgac	11	14	2	2	rs367779999		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr5:79335943C>T	ENST00000350881.2	+	2	322	c.132C>T	c.(130-132)ggC>ggT	p.G44G	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	44	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G44G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCCAGGCGCTCTGCTGC	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		2,4404	4.2+/-10.8	0,2,2201	77	79	79		132	-10.6	0	5		79	0,8600		0,0,4300	no	coding-synonymous	THBS4	NM_003248.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		44/962	79335943	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.132C>T	5.37:g.79335943C>T			B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G44	ENST00000350881.2	37	c.132	CCDS4049.1	5																																																																																			THBS4	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.488	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	C			79335943	1	no_errors	ENST00000350881	ensembl	human	known	70_37	silent	SNP	0.000	T	T	79335943	C	T	79335943	2	4	115	1	0	0	0	0	0	0	0	1	15886	755	27	2		2	THBS4	5	79335943	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	71465041	79335943	101579317	36	17125										
KCNN2	3781	genome.wustl.edu	37	chr5	113698719	113698719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccaacaacctggcgctctatGgaaccggcggcggaggcagc	14	14	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr5:113698719G>A	ENST00000512097.3	+	2	1265	c.247G>A	c.(247-249)Gga>Aga	p.G83R	KCNN2_ENST00000264773.3_Missense_Mutation_p.G83R			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	83	Poly-Gly.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GGCGCTCTATGGAACcggcgg	0.657																																																	0													22	22	22					5																	113698719		2193	4291	6484	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.247G>A	5.37:g.113698719G>A	ENSP00000427120:p.Gly83Arg		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.G83R	ENST00000512097.3	37	c.247	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935844	0.52972	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.89123	-2.47;-2.47	5.05	5.05	0.67936	.	407.602000	0.00166	N	0.000000	D	0.90631	0.7062	L	0.40543	1.245	0.80722	D	1	D	0.56287	0.975	P	0.51487	0.671	T	0.79907	-0.1605	10	0.54805	T	0.06	.	12.9437	0.58362	0.0797:0.0:0.9203:0.0	.	83	Q9H2S1	KCNN2_HUMAN	R	83	ENSP00000427120:G83R;ENSP00000264773:G83R	ENSP00000264773:G83R	G	+	1	0	KCNN2	113726618	1.000000	0.71417	0.938000	0.37757	0.955000	0.61496	5.004000	0.63966	2.624000	0.88883	0.655000	0.94253	GGA	KCNN2	-	NULL		0.657	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	G	NM_021614		113698719	1	no_errors	ENST00000264773	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113698719	G	A	113698719	3	1	115	1	0	0	0	0	1	0	0	0	8099	1349	47	4	249	4	KCNN2	5	113698719	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	34362776	113698719	67216541	37	17126										
PCDHGA1	56114	genome.wustl.edu	37	chr5	140712541	140712541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tctccctcactgcggactcgCggaagagccacctgattttc	9	15	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr5:140712541C>T	ENST00000517417.1	+	1	2290	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R764W	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R764W(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGACTCGCGGAAGAGCCA	0.582																																																	2	Substitution - Missense(2)	urinary_tract(2)											103	113	110					5																	140712541		2203	4298	6501	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2290C>T	5.37:g.140712541C>T	ENSP00000431083:p.Arg764Trp		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R764W	ENST00000517417.1	37	c.2290	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	.	9.334	1.061310	0.19987	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52057	0.75;0.68	3.89	0.856	0.19019	.	0.149098	0.30036	N	0.010580	T	0.55242	0.1908	M	0.90595	3.13	0.09310	N	1	P;B	0.50617	0.937;0.118	P;B	0.46718	0.525;0.066	T	0.54262	-0.8320	10	0.87932	D	0	.	6.5454	0.22402	0.4632:0.4522:0.0:0.0845	.	764;764	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	764	ENSP00000431083:R764W;ENSP00000367345:R764W	ENSP00000367345:R764W	R	+	1	2	PCDHGA1	140692725	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.404000	0.02494	0.040000	0.15660	-0.302000	0.09304	CGG	PCDHGA1	-	NULL		0.582	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	C	NM_018912		140712541	1	no_errors	ENST00000517417	ensembl	human	known	70_37	missense	SNP	0.001	T	T	140712541	C	T	140712541	3	4	115	1	0	0	0	0	1	0	0	0	11574	759	27	2	2292	2	PCDHGA1	5	140712541	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	27013822	140712541	40202719	38	17127										
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750824	140750824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	catcaatattggcaaggaagTgagacaactgttcaagctgg	11	7	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr5:140750824T>C	ENST00000576222.1	+	1	994	c.863T>C	c.(862-864)gTg>gCg	p.V288A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGGAAGTGAGACAACTG	0.473																																																	0													138	142	141					5																	140750824		2043	4205	6248	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.863T>C	5.37:g.140750824T>C	ENSP00000461862:p.Val288Ala		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V288A	ENST00000576222.1	37	c.863	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.473	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	T	NM_018924		140750824	1	no_errors	ENST00000576222	ensembl	human	known	70_37	missense	SNP	0.000	C	C	140750824	T	C	140750824	3	2	115	1	0	0	0	0	1	0	0	0	11588	1696	59	5	865	5	PCDHGB3	5	140750824	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09	38283	140750824	40164436	39	17128										
GABRG2	2566	genome.wustl.edu	37	chr5	161495040	161495040	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tatatggagcacaggaagctCagtctactcgactcctgtat	9	10	2	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr5:161495040C>T	ENST00000361925.4	+	1	255	c.35C>T	c.(34-36)tCa>tTa	p.S12L	GABRG2_ENST00000393933.4_5'Flank|GABRG2_ENST00000356592.3_Missense_Mutation_p.S12L|GABRG2_ENST00000414552.2_Missense_Mutation_p.S12L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	12					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAGGAAGCTCAGTCTACTCG	0.473																																																	0													87	83	84					5																	161495040		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.35C>T	5.37:g.161495040C>T	ENSP00000354651:p.Ser12Leu		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S12L	ENST00000361925.4	37	c.35	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193342	0.38707	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.80653	-1.4;-0.86;-1.4	5.08	3.17	0.36434	.	1.997860	0.02000	N	0.046185	T	0.62073	0.2398	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.58008	-0.7712	10	0.33940	T	0.23	.	4.7169	0.12899	0.1419:0.6098:0.1554:0.0929	.	12;12;12	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	L	12	ENSP00000349000:S12L;ENSP00000410732:S12L;ENSP00000354651:S12L	ENSP00000349000:S12L	S	+	2	0	GABRG2	161427618	0.328000	0.24687	0.999000	0.59377	0.996000	0.88848	0.296000	0.19083	1.148000	0.42385	0.491000	0.48974	TCA	GABRG2	-	prints_GABBAg2_rcpt		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	C			161495040	1	no_errors	ENST00000356592	ensembl	human	known	70_37	missense	SNP	0.886	T	T	161495040	C	T	161495040	3	4	115	1	0	0	0	0	1	0	0	0	6190	838	29	1	37	1	GABRG2	5	161495040	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	20744216	161495040	19420220	40	17129										
RFX6	222546	genome.wustl.edu	37	chr6	117240424	117240424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tgcgaagatttgtatcttctCtgaaacgacaaacatctttc	6	9	3	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr6:117240424C>G	ENST00000332958.2	+	11	1163	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	383					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTATCTTCTCTGAAACGACA	0.383																																																	0													110	107	108					6																	117240424		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1147C>G	6.37:g.117240424C>G	ENSP00000332208:p.Leu383Val		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.L383V	ENST00000332958.2	37	c.1147	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872545	0.72180	.	.	ENSG00000185002	ENST00000332958	T	0.79940	-1.32	6.08	3.34	0.38264	.	0.000000	0.64402	D	0.000001	D	0.82365	0.5021	M	0.81614	2.55	0.46078	D	0.998854	D	0.54397	0.966	P	0.55161	0.77	D	0.84524	0.0629	10	0.59425	D	0.04	-12.5759	11.5295	0.50599	0.0:0.8135:0.0:0.1865	.	383	Q8HWS3	RFX6_HUMAN	V	383	ENSP00000332208:L383V	ENSP00000332208:L383V	L	+	1	2	RFX6	117347117	0.406000	0.25344	1.000000	0.80357	0.994000	0.84299	0.570000	0.23653	1.589000	0.49982	0.591000	0.81541	CTG	RFX6	-	NULL		0.383	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117240424	1	no_errors	ENST00000332958	ensembl	human	known	70_37	missense	SNP	0.988	G	G	117240424	C	G	117240424	3	3	115	1	0	0	0	0	1	0	0	0	13297	912	32	1	1189	1	RFX6	6	117240424	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		117240424	53874643	41	17130										
FAM120B	84498	genome.wustl.edu	37	chr6	170627030	170627030	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaagacactgattacctaatCtatgacacttgtccctactt	5	11	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr6:170627030C>T	ENST00000476287.1	+	2	660	c.552C>T	c.(550-552)atC>atT	p.I184I	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Silent_p.I196I|FAM120B_ENST00000537664.1_Silent_p.I207I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	184					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATTACCTAATCTATGACACTT	0.483																																																	0													89	94	92					6																	170627030		2203	4300	6503	SO:0001819	synonymous_variant	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.552C>T	6.37:g.170627030C>T			B4DL34|Q86V68|Q96JI9	Silent	SNP	NULL	p.I207	ENST00000476287.1	37	c.621	CCDS5314.1	6																																																																																			FAM120B	-	NULL		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	C	NM_032448		170627030	1	no_errors	ENST00000537664	ensembl	human	known	70_37	silent	SNP	0.978	T	T	170627030	C	T	170627030	2	4	115	1	0	0	0	0	0	0	0	1	5432	903	32	1		1	FAM120B	6	170627030	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	53386606	170627030	488037	42	17131										
ABCA13	154664	genome.wustl.edu	37	chr7	48349706	48349706	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctctgattgtgttgctgagtCgaaacttggatgtgcgagct	13	7	1	2	rs376273529		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr7:48349706C>T	ENST00000435803.1	+	24	9508	c.9484C>T	c.(9484-9486)Cga>Tga	p.R3162*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3162					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGCTGAGTCGAAACTTGGA	0.512													C|||	1	0.000199681	0	0	5008	,	,		19296	0		0	False		,,,				2504	0.001																0								C	stop/ARG	1,4007		0,1,2003	259	255	256		9484	5	0	7		256	0,8378		0,0,4189	no	stop-gained	ABCA13	NM_152701.3		0,1,6192	TT,TC,CC		0.0,0.025,0.0081		3162/5059	48349706	1,12385	2004	4189	6193	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9484C>T	7.37:g.48349706C>T	ENSP00000411096:p.Arg3162*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R3162*	ENST00000435803.1	37	c.9484	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	50	17.068804	0.99878	2.5E-4	0.0	ENSG00000179869	ENST00000435803	.	.	.	5.84	4.96	0.65561	.	0.984861	0.08254	N	0.974213	.	.	.	.	.	.	0.37259	D	0.906896	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9301	0.63989	0.1516:0.8484:0.0:0.0	.	.	.	.	X	3162	.	ENSP00000411096:R3162X	R	+	1	2	ABCA13	48320252	0.003000	0.15002	0.003000	0.11579	0.023000	0.10783	1.467000	0.35321	1.472000	0.48140	0.655000	0.94253	CGA	ABCA13	-	NULL		0.512	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48349706	1	no_errors	ENST00000435803	ensembl	human	known	70_37	nonsense	SNP	0.009	T	T	48349706	C	T	48349706	4	4	115	1	0	0	0	0	0	1	0	0	31	876	31	1	9407	1	ABCA13	7	48349706	Nonsense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		48349706	110788957	43	17132										
DNAJC30	84277	genome.wustl.edu	37	chr7	73097088	73097088	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tccgattaaatataaaagccGatgatgatgaagattgaaaa	8	4	0	5	rs374274920		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr7:73097088G>A	ENST00000395176.2	-	1	695	c.666C>T	c.(664-666)atC>atT	p.I222I	WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000265758.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	222						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TATAAAAGCCGATGATGATGA	0.517																																																	0								G		0,4406		0,0,2203	44	52	49		666	-3.6	0	7		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJC30	NM_032317.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		222/227	73097088	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84277			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"Heat shock proteins / DNAJ (HSP40)"	16410	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 18"	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.666C>T	7.37:g.73097088G>A			Q9BSG8	Silent	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.I222	ENST00000395176.2	37	c.666	CCDS5556.1	7																																																																																			DNAJC30	-	NULL		0.517	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC30	HGNC	protein_coding	OTTHUMT00000252304.2	G			73097088	-1	no_errors	ENST00000395176	ensembl	human	known	70_37	silent	SNP	0.004	A	A	73097088	G	A	73097088	2	1	115	1	0	0	0	0	0	0	0	1	4658	1048	37	1		1	DNAJC30	7	73097088	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	24747382	73097088	86041575	44	17133										
C7orf51	222950	genome.wustl.edu	37	chr7	100086224	100086224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccccgccacaacagcctcacGcccttccgccccatgcccac	5	25	1	0	rs368554898		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr7:100086224G>A	ENST00000300179.2	+	4	1039	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	NYAP1_ENST00000454988.1_Missense_Mutation_p.A237T|NYAP1_ENST00000423930.1_Missense_Mutation_p.A294T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	294	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACAGCCTCACGCCCTTCCGCC	0.667																																																	0													44	47	46					7																	100086224		2202	4294	6496	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.880G>A	7.37:g.100086224G>A	ENSP00000300179:p.Ala294Thr		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	NULL	p.A294T	ENST00000300179.2	37	c.880	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050337	0.01981	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.30981	1.51;1.51;1.51	4.73	1.47	0.22746	.	1.069840	0.07323	N	0.877888	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B	0.25563	0.004;0.129	B;B	0.18561	0.002;0.022	T	0.28996	-1.0026	10	0.15952	T	0.53	-1.1305	5.5541	0.17107	0.197:0.0:0.633:0.1699	.	237;294	C9JS30;Q6ZVC0	.;CG051_HUMAN	T	294;294;237	ENSP00000300179:A294T;ENSP00000411861:A294T;ENSP00000394424:A237T	ENSP00000300179:A294T	A	+	1	0	C7orf51	99924160	0.001000	0.12720	0.022000	0.16811	0.051000	0.14879	0.410000	0.21098	0.950000	0.37743	0.407000	0.27541	GCC	NYAP1	-	NULL		0.667	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	G	NM_173564		100086224	1	no_errors	ENST00000423930	ensembl	human	known	70_37	missense	SNP	0.018	A	A	100086224	G	A	100086224	3	1	115	1	0	0	0	0	1	0	0	0	2405	1087	38	2	890	2	C7orf51	7	100086224	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	26989136	100086224	59052439	45	17134										
GIGYF1	64599	genome.wustl.edu	37	chr7	100284015	100284015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aaattcaaacttgcgccgccGttccccatgttcccgccagc	7	17	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr7:100284015G>A	ENST00000275732.5	-	8	1945	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	246					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCGCCGCCGTTCCCCATGT	0.647																																																	0													39	37	37					7																	100284015		2172	4230	6402	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.736C>T	7.37:g.100284015G>A	ENSP00000275732:p.Arg246Trp		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R246W	ENST00000275732.5	37	c.736	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	21.5	4.163991	0.78339	.	.	ENSG00000146830	ENST00000275732	D	0.85258	-1.96	4.94	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.88370	0.6418	L	0.45137	1.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88509	0.3088	10	0.66056	D	0.02	-28.431	12.2796	0.54757	0.0:0.0:0.8204:0.1796	.	246	O75420	PERQ1_HUMAN	W	246	ENSP00000275732:R246W	ENSP00000275732:R246W	R	-	1	2	GIGYF1	100121951	1.000000	0.71417	0.938000	0.37757	0.752000	0.42762	7.637000	0.83313	2.567000	0.86603	0.563000	0.77884	CGG	GIGYF1	-	NULL		0.647	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	G	NM_022574		100284015	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	missense	SNP	0.997	A	A	100284015	G	A	100284015	3	1	115	1	0	0	0	0	1	0	0	0	6396	1144	40	2	2439	2	GIGYF1	7	100284015	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	197791	100284015	58854648	46	17135										
PLXNA4	91584	genome.wustl.edu	37	chr7	131848964	131848964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctcaaggagtagcgggcctcGcccgtgatggcgtcaatggg	16	11	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr7:131848964G>A	ENST00000359827.3	-	24	5399	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G	PLXNA4_ENST00000321063.4_Silent_p.G1479G			Q9HCM2	PLXA4_HUMAN	plexin A4	1479					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCGGGCCTCGCCCGTGATGG	0.592																																																	0													75	78	77					7																	131848964		2203	4300	6503	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4437C>T	7.37:g.131848964G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1479	ENST00000359827.3	37	c.4437	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	G	NM_181775		131848964	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	silent	SNP	0.001	A	A	131848964	G	A	131848964	2	1	115	1	0	0	0	0	0	0	0	1	12146	1074	38	2		2	PLXNA4	7	131848964	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	31564949	131848964	27289699	47	17136										
TNFRSF10C	8794	genome.wustl.edu	37	chr8	22974403	22974403	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccagctgctgaagagacaatGaccaccagcccggggactcc	11	15	0	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr8:22974403G>A	ENST00000356864.3	+	5	1171	c.639G>A	c.(637-639)atG>atA	p.M213I	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.M111I	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	213					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AAGAGACAATGACCACCAGCC	0.602																																																	0													62	70	67					8																	22974403		2203	4298	6501	SO:0001583	missense	8794			AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.639G>A	8.37:g.22974403G>A	ENSP00000349324:p.Met213Ile		O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.M213I	ENST00000356864.3	37	c.639	CCDS6037.1	8	.	.	.	.	.	.	.	.	.	.	G	4.380	0.070127	0.08436	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.63580	-0.05;1.01	0.493	0.493	0.16878	.	37.699200	0.00766	N	0.001165	T	0.43986	0.1272	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.23476	-1.0187	10	0.18710	T	0.47	.	6.8883	0.24214	1.0E-4:0.0:0.9999:0.0	.	213	O14798	TR10C_HUMAN	I	213;111;213	ENSP00000349324:M213I;ENSP00000437612:M111I	ENSP00000349324:M213I	M	+	3	0	TNFRSF10C	23030348	0.004000	0.15560	0.003000	0.11579	0.151000	0.21798	-0.079000	0.11357	0.547000	0.28938	0.064000	0.15345	ATG	TNFRSF10C	-	NULL		0.602	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10C	HGNC	protein_coding	OTTHUMT00000215134.3	G			22974403	1	no_errors	ENST00000356864	ensembl	human	known	70_37	missense	SNP	0.022	A	A	22974403	G	A	22974403	3	1	115	1	0	0	0	0	1	0	0	0	16312	1290	45	1	657	1	TNFRSF10C	8	22974403	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		22974403	123389619	48	17137										
TGS1	96764	genome.wustl.edu	37	chr8	56698850	56698850	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aaaaagaaaaaacatcaaaaGaaatacttagatgaaattgt	5	3	1	4			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr8:56698850G>T	ENST00000260129.5	+	4	870	c.393G>T	c.(391-393)aaG>aaT	p.K131N		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	131					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AACATCAAAAGAAATACTTAG	0.264																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0													25	26	25					8																	56698850		2197	4294	6491	SO:0001583	missense	96764			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.393G>T	8.37:g.56698850G>T	ENSP00000260129:p.Lys131Asn		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.K131N	ENST00000260129.5	37	c.393	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833036	0.50951	.	.	ENSG00000137574	ENST00000260129	T	0.17528	2.27	5.69	4.81	0.61882	.	0.197172	0.40818	N	0.001013	T	0.30978	0.0782	M	0.76574	2.34	0.30298	N	0.789713	D;D	0.59767	0.986;0.986	P;P	0.53954	0.738;0.738	T	0.33650	-0.9860	10	0.51188	T	0.08	-11.8005	9.3884	0.38359	0.203:0.0:0.797:0.0	.	131;131	B2RBJ7;Q96RS0	.;TGS1_HUMAN	N	131	ENSP00000260129:K131N	ENSP00000260129:K131N	K	+	3	2	TGS1	56861404	1.000000	0.71417	0.996000	0.52242	0.650000	0.38633	1.588000	0.36633	1.405000	0.46838	-0.140000	0.14226	AAG	TGS1	-	NULL		0.264	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	G	NM_024831		56698850	1	no_errors	ENST00000260129	ensembl	human	known	70_37	missense	SNP	0.998	T	T	56698850	G	T	56698850	3	4	115	1	0	0	0	0	1	0	0	0	15867	933	33	3	407	3	TGS1	8	56698850	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	33724447	56698850	89665172	49	17138										
PCSK5	5125	genome.wustl.edu	37	chr9	78799601	78799601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tttaacagagaaaaatctttGccggaaatgcagtgaaaact	8	6	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr9:78799601G>T	ENST00000545128.1	+	17	2748	c.2210G>T	c.(2209-2211)tGc>tTc	p.C737F	PCSK5_ENST00000376752.4_Missense_Mutation_p.C737F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	737	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAAATCTTTGCCGGAAATGC	0.348																																																	0													56	55	55					9																	78799601		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2210G>T	9.37:g.78799601G>T	ENSP00000446280:p.Cys737Phe		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.C737F	ENST00000545128.1	37	c.2210	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999098	0.74818	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;T;T	0.66460	-0.21;-0.21;-0.21	5.58	5.58	0.84498	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	H	0.97611	4.04	0.80722	D	1	P;P	0.52316	0.952;0.72	P;B	0.57679	0.825;0.315	D	0.91474	0.5199	10	0.87932	D	0	-19.9888	19.5751	0.95439	0.0:0.0:1.0:0.0	.	737;737	Q92824;Q92824-2	PCSK5_HUMAN;.	F	737;440;737;410	ENSP00000446280:C737F;ENSP00000365943:C737F;ENSP00000411654:C410F	ENSP00000365943:C737F	C	+	2	0	PCSK5	77989421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.961000	0.76042	2.642000	0.89623	0.561000	0.74099	TGC	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.348	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78799601	1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78799601	G	T	78799601	3	4	115	1	0	0	0	0	1	0	0	0	11627	1319	46	4	2276	4	PCSK5	9	78799601	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		78799601	62413830	50	17139										
HABP4	22927	genome.wustl.edu	37	chr9	99227724	99227724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cctgggaacagagtttttgaCgcttttgaccagagaggaaa	12	7	0	4	rs142219564		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr9:99227724C>T	ENST00000375249.4	+	3	693	c.618C>T	c.(616-618)gaC>gaT	p.D206D	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAGTTTTTGACGCTTTTGACC	0.473													C|||	1	0.000199681	0	0	5008	,	,		17023	0		0.001	False		,,,				2504	0																0								C		0,4406		0,0,2203	117	127	123		618	-7	0	9	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HABP4	NM_014282.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		206/414	99227724	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.618C>T	9.37:g.99227724C>T				Silent	SNP	pfam_HABP4_PAIRBP1-bd	p.D206	ENST00000375249.4	37	c.618	CCDS6719.1	9																																																																																			HABP4	-	NULL		0.473	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	C	NM_014282		99227724	1	no_errors	ENST00000375249	ensembl	human	known	70_37	silent	SNP	0.028	T	T	99227724	C	T	99227724	2	4	115	1	0	0	0	0	0	0	0	1	6959	535	19	2		2	HABP4	9	99227724	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	20428123	99227724	41985707	51	17140										
SLC44A1	23446	genome.wustl.edu	37	chr9	108128639	108128639	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccatccaggaaaatgcttgtGcacgatgtgtgctgaaatct	10	9	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr9:108128639G>C	ENST00000374720.3	+	12	1670	c.1423G>C	c.(1423-1425)Gca>Cca	p.A475P	SLC44A1_ENST00000374724.1_Missense_Mutation_p.A475P|SLC44A1_ENST00000343170.7_Missense_Mutation_p.A267P|SLC44A1_ENST00000374723.1_Missense_Mutation_p.A475P	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	475	Cys-rich.				choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AAATGCTTGTGCACGATGTGT	0.289																																																	0													70	70	70					9																	108128639		2203	4300	6503	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1423G>C	9.37:g.108128639G>C	ENSP00000363852:p.Ala475Pro		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.A475P	ENST00000374720.3	37	c.1423	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622278	0.87460	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.86502	2.82	0.80722	D	1	P;B;D	0.89917	0.501;0.36;1.0	P;B;D	0.91635	0.482;0.384;0.999	T	0.64253	-0.6451	10	0.62326	D	0.03	-16.3809	19.8856	0.96911	0.0:0.0:1.0:0.0	.	475;475;475	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	P	475;475;475;267	ENSP00000363855:A475P;ENSP00000363852:A475P;ENSP00000363856:A475P;ENSP00000341856:A267P	ENSP00000341856:A267P	A	+	1	0	SLC44A1	107168460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.269000	0.95684	2.771000	0.95319	0.650000	0.86243	GCA	SLC44A1	-	pfam_Choline_transptr-like		0.289	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	G	NM_080546		108128639	1	no_errors	ENST00000374720	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108128639	G	C	108128639	3	2	115	1	0	0	0	0	1	0	0	0	14665	1319	46	4	1469	4	SLC44A1	9	108128639	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	8900915	108128639	33084792	52	17141										
ZNF462	58499	genome.wustl.edu	37	chr9	109689443	109689443	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccctttctcaattatcatttGaggtgggtgctccaatgtct	8	10	3	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr9:109689443G>A	ENST00000277225.5	+	3	3539	c.3250G>A	c.(3250-3252)Gag>Aag	p.E1084K	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1084K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1084					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTATCATTTGAGGTGGGTGC	0.512																																																	0													86	86	86					9																	109689443		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3250G>A	9.37:g.109689443G>A	ENSP00000277225:p.Glu1084Lys		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1084K	ENST00000277225.5	37	c.3250	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643016	0.67244	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05855	3.38;3.83	5.6	5.6	0.85130	.	0.251853	0.43579	D	0.000545	T	0.08891	0.0220	L	0.43152	1.355	0.80722	D	1	B;B	0.29136	0.234;0.053	B;B	0.25506	0.061;0.019	T	0.14504	-1.0470	10	0.44086	T	0.13	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1084;1084	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1084	ENSP00000277225:E1084K;ENSP00000414570:E1084K	ENSP00000277225:E1084K	E	+	1	0	ZNF462	108729264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.003000	0.76310	2.630000	0.89119	0.655000	0.94253	GAG	ZNF462	-	NULL		0.512	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	G	NM_021224		109689443	1	no_errors	ENST00000457913	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109689443	G	A	109689443	3	1	115	1	0	0	0	0	1	0	0	0	17956	1291	45	1	3256	1	ZNF462	9	109689443	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	1560804	109689443	31523988	53	17142										
ACTL7A	10881	genome.wustl.edu	37	chr9	111625118	111625118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gcggtcttggtttcagacccGccactgagcccacacaccaa	9	16	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr9:111625118G>A	ENST00000333999.3	+	1	516	c.516G>A	c.(514-516)ccG>ccA	p.P172P		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	172						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCAGACCCGCCACTGAGCC	0.532																																					Esophageal Squamous(177;1480 3591 17554)												0													100	98	98					9																	111625118		2203	4300	6503	SO:0001819	synonymous_variant	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.516G>A	9.37:g.111625118G>A			B2RC83|Q5JSV0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.P172	ENST00000333999.3	37	c.516	CCDS6772.1	9																																																																																			ACTL7A	-	pfam_Actin-like,smart_Actin-like		0.532	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	G	NM_006687		111625118	1	no_errors	ENST00000333999	ensembl	human	known	70_37	silent	SNP	0.402	A	A	111625118	G	A	111625118	2	1	115	1	0	0	0	0	0	0	0	1	200	1074	38	2		2	ACTL7A	9	111625118	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	1935675	111625118	29588313	54	17143										
NOTCH1	4851	genome.wustl.edu	37	chr9	139412684	139412684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cattgacagggttggtgtcgCagttggagccctcgttacag	14	9	0	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr9:139412684C>T	ENST00000277541.6	-	7	1235	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	387	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGGTGTCGCAGTTGGAGCC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													77	84	82					9																	139412684		2169	4276	6445	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1160G>A	9.37:g.139412684C>T	ENSP00000277541:p.Cys387Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C387Y	ENST00000277541.6	37	c.1160	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651015	0.88056	.	.	ENSG00000148400	ENST00000277541	D	0.88509	-2.39	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.99404	4.55	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99297	1.0900	10	0.87932	D	0	.	16.4581	0.84029	0.0:1.0:0.0:0.0	.	387	P46531	NOTC1_HUMAN	Y	387	ENSP00000277541:C387Y	ENSP00000277541:C387Y	C	-	2	0	NOTCH1	138532505	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.304000	0.78882	2.223000	0.72356	0.514000	0.50259	TGC	NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139412684	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139412684	C	T	139412684	3	4	115	1	0	0	0	0	1	0	0	0	10571	710	25	4	6619	4	NOTCH1	9	139412684	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	27787566	139412684	1800747	55	17144										
C10orf18	54906	genome.wustl.edu	37	chr10	5788751	5788751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	caggacagaagggcactaagTacctttgtgcctcgtcagta	11	10	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:5788751T>G	ENST00000328090.5	+	15	3992	c.3367T>G	c.(3367-3369)Tac>Gac	p.Y1123D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1123																	GGGCACTAAGTACCTTTGTGC	0.488																																																	0													122	118	119					10																	5788751		1990	4176	6166	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3367T>G	10.37:g.5788751T>G	ENSP00000328426:p.Tyr1123Asp		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.Y1123D	ENST00000328090.5	37	c.3367	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508391	0.27036	.	.	ENSG00000108021	ENST00000328090	T	0.05649	3.41	5.68	0.783	0.18572	.	0.778678	0.11626	N	0.545305	T	0.11410	0.0278	L	0.50333	1.59	0.09310	N	1	D	0.54964	0.969	P	0.53490	0.727	T	0.20672	-1.0268	10	0.48119	T	0.1	.	7.5245	0.27647	0.0:0.3478:0.0:0.6522	.	1123	Q5VWN6	F208B_HUMAN	D	1123	ENSP00000328426:Y1123D	ENSP00000328426:Y1123D	Y	+	1	0	C10orf18	5828757	0.011000	0.17503	0.004000	0.12327	0.004000	0.04260	0.238000	0.18004	0.094000	0.17404	0.482000	0.46254	TAC	FAM208B	-	NULL		0.488	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	T	NM_017782		5788751	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.009	G	G	5788751	T	G	5788751	3	3	115	1	0	0	0	0	1	0	0	0	1600	1638	57	5	3413	5	C10orf18	10	5788751	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09		5788751	129745996	56	17145										
FBXO18	84893	genome.wustl.edu	37	chr10	5945069	5945069	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctgtgacccagcccttcggtCaaagatggacaaacagagat	10	11	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:5945069C>T	ENST00000362091.4	+	2	203	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000379999.5_Nonsense_Mutation_p.Q81*	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	30					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCCTTCGGTCAAAGATGGAC	0.478																																																	0													96	88	91					10																	5945069		2203	4300	6503	SO:0001587	stop_gained	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.88C>T	10.37:g.5945069C>T	ENSP00000355415:p.Gln30*		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.Q81*	ENST00000362091.4	37	c.241	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538982	0.85917	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	.	0.482216	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.721	18.0024	0.89201	0.0:1.0:0.0:0.0	.	.	.	.	X	30;81	.	ENSP00000355415:Q30X	Q	+	1	0	FBXO18	5985075	1.000000	0.71417	0.890000	0.34922	0.046000	0.14306	3.300000	0.51834	2.536000	0.85505	0.655000	0.94253	CAA	FBXO18	-	NULL		0.478	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	C	NM_032807		5945069	1	no_errors	ENST00000379999	ensembl	human	known	70_37	nonsense	SNP	0.989	T	T	5945069	C	T	5945069	4	4	115	1	0	0	0	0	0	1	0	0	5749	827	29	1	256	1	FBXO18	10	5945069	Nonsense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	156318	5945069	129589678	57	17146										
KIAA1217	56243	genome.wustl.edu	37	chr10	24820871	24820871	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggatcgggactcaccaccacGaggtcaggcgatgtggtcta	14	11	3	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:24820871G>A	ENST00000376454.3	+	15	3225	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	KIAA1217_ENST00000376462.1_Silent_p.T985T|KIAA1217_ENST00000376451.2_Silent_p.T748T|KIAA1217_ENST00000396445.1_Silent_p.T748T|KIAA1217_ENST00000458595.1_Silent_p.T1030T|KIAA1217_ENST00000396446.1_Silent_p.T748T|KIAA1217_ENST00000376452.3_Silent_p.T1029T|KIAA1217_ENST00000307544.6_Silent_p.T748T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1065					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCACCACCACGAGGTCAGGCG	0.577																																																	0													66	53	57					10																	24820871		2203	4300	6503	SO:0001819	synonymous_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3195G>A	10.37:g.24820871G>A			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.T1065	ENST00000376454.3	37	c.3195	CCDS31165.1	10																																																																																			KIAA1217	-	NULL		0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	G	NM_019590		24820871	1	no_errors	ENST00000376454	ensembl	human	known	70_37	silent	SNP	0.434	A	A	24820871	G	A	24820871	2	1	115	1	0	0	0	0	0	0	0	1	8236	1045	37	1		1	KIAA1217	10	24820871	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	18875802	24820871	110713876	58	17147										
CTNNA3	29119	genome.wustl.edu	37	chr10	67680320	67680320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aagacattttcactgtttgcActacagcattcattaaattt	4	8	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:67680320A>G	ENST00000433211.2	-	18	2630	c.2456T>C	c.(2455-2457)gTg>gCg	p.V819A	CTNNA3_ENST00000373744.4_Missense_Mutation_p.V819A|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CACTGTTTGCACTACAGCATT	0.448																																																	0													89	81	84					10																	67680320		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2456T>C	10.37:g.67680320A>G	ENSP00000389714:p.Val819Ala			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.V819A	ENST00000433211.2	37	c.2456	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	A	29.0	4.968787	0.92855	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.39592	1.07;1.07;1.07	5.88	5.88	0.94601	.	0.000000	0.53938	D	0.000053	T	0.65491	0.2696	M	0.80616	2.505	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.65998	-0.6032	10	0.37606	T	0.19	-19.5201	14.299	0.66334	1.0:0.0:0.0:0.0	.	819	Q9UI47	CTNA3_HUMAN	A	819;819;158	ENSP00000389714:V819A;ENSP00000362849:V819A;ENSP00000362840:V158A	ENSP00000362840:V158A	V	-	2	0	CTNNA3	67350326	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.336000	0.96533	2.263000	0.75096	0.529000	0.55759	GTG	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin		0.448	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	A	NM_013266		67680320	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67680320	A	G	67680320	3	3	115	1	0	0	0	0	1	0	0	0	4019	159	6	5	235	5	CTNNA3	10	67680320	Missense_Mutation	SNP	A	TCGA-EK-A2RO-01A-11D-A18J-09	42859449	67680320	67854427	59	17148										
KIAA1279	26128	genome.wustl.edu	37	chr10	70775881	70775881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctcttcttagactccctgagAgacccaaataaagtattccc	5	13	2	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:70775881A>G	ENST00000361983.4	+	7	1677	c.1575A>G	c.(1573-1575)agA>agG	p.R525R		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	525					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ACTCCCTGAGAGACCCAAATA	0.408																																																	0													82	80	81					10																	70775881		2203	4300	6503	SO:0001819	synonymous_variant	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1575A>G	10.37:g.70775881A>G			A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	pfam_KBP	p.R525	ENST00000361983.4	37	c.1575	CCDS7284.1	10																																																																																			KIAA1279	-	pfam_KBP		0.408	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	A	NM_015634		70775881	1	no_errors	ENST00000361983	ensembl	human	known	70_37	silent	SNP	1.000	G	G	70775881	A	G	70775881	2	3	115	1	0	0	0	0	0	0	0	1	8241	301	11	5		5	KIAA1279	10	70775881	Silent	SNP	A	TCGA-EK-A2RO-01A-11D-A18J-09	3095561	70775881	64758866	60	17149										
LIPK	643414	genome.wustl.edu	37	chr10	90490853	90490853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tggcagatagtggttatgacGtgtggttggggaacagccga	17	5	0	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:90490853G>A	ENST00000404190.1	+	3	337	c.337G>A	c.(337-339)Gtg>Atg	p.V113M		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	113					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGGTTATGACGTGTGGTTGGG	0.463																																																	0													77	79	78					10																	90490853		2034	4242	6276	SO:0001583	missense	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.337G>A	10.37:g.90490853G>A	ENSP00000383900:p.Val113Met		A7KIH8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.V113M	ENST00000404190.1	37	c.337	CCDS44455.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387486	0.82902	.	.	ENSG00000204021	ENST00000404190	T	0.81163	-1.46	5.45	5.45	0.79879	Alpha/beta hydrolase fold-1 (1);	0.000000	0.49305	D	0.000154	D	0.94561	0.8248	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96477	0.9353	10	0.87932	D	0	-18.0756	18.2139	0.89879	0.0:0.0:1.0:0.0	.	113	Q5VXJ0	LIPK_HUMAN	M	113	ENSP00000383900:V113M	ENSP00000383900:V113M	V	+	1	0	LIPK	90480833	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.660000	0.83776	2.836000	0.97738	0.655000	0.94253	GTG	LIPK	-	pfam_AB_hydrolase_1		0.463	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPK	HGNC	protein_coding	OTTHUMT00000049253.2	G	XM_061222		90490853	1	no_errors	ENST00000404190	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90490853	G	A	90490853	3	1	115	1	0	0	0	0	1	0	0	0	8848	1145	40	2	347	2	LIPK	10	90490853	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	19714972	90490853	45043894	61	17150										
IFIT2	3433	genome.wustl.edu	37	chr10	91066443	91066443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aagaagccttggagaaagccCcaggtgtaacagatgttctt	11	8	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:91066443C>T	ENST00000371826.3	+	2	899	c.730C>T	c.(730-732)Cca>Tca	p.P244S	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	244					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGAGAAAGCCCCAGGTGTAAC	0.438																																																	0													78	78	78					10																	91066443		1982	4180	6162	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.730C>T	10.37:g.91066443C>T	ENSP00000360891:p.Pro244Ser		Q5T767	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P244S	ENST00000371826.3	37	c.730	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410572	0.01145	.	.	ENSG00000119922	ENST00000371826	T	0.55234	0.53	4.58	3.68	0.42216	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.217055	0.38959	N	0.001505	T	0.43986	0.1272	L	0.37897	1.145	0.48087	D	0.999581	P	0.51351	0.944	P	0.46362	0.514	T	0.25502	-1.0130	10	0.11794	T	0.64	-2.3938	12.9167	0.58211	0.0:0.9202:0.0:0.0798	.	244	P09913	IFIT2_HUMAN	S	244	ENSP00000360891:P244S	ENSP00000360891:P244S	P	+	1	0	IFIT2	91056423	0.096000	0.21769	0.124000	0.21820	0.066000	0.16364	0.952000	0.29149	1.533000	0.49186	0.655000	0.94253	CCA	IFIT2	-	pfscan_TPR-contain_dom		0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1	C	NM_001547		91066443	1	no_errors	ENST00000371826	ensembl	human	known	70_37	missense	SNP	0.921	T	T	91066443	C	T	91066443	3	4	115	1	0	0	0	0	1	0	0	0	7543	623	22	4	736	4	IFIT2	10	91066443	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	575590	91066443	44468304	62	17151										
LOXL4	84171	genome.wustl.edu	37	chr10	100013465	100013465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ttggagaggcagttctcctcGtgggcacaatacagctggct	13	10	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:100013465G>A	ENST00000260702.3	-	11	1830	c.1680C>T	c.(1678-1680)caC>caT	p.H560H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	560	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGTTCTCCTCGTGGGCACAAT	0.622																																																	0													95	88	90					10																	100013465		2203	4300	6503	SO:0001819	synonymous_variant	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1680C>T	10.37:g.100013465G>A			Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.H560	ENST00000260702.3	37	c.1680	CCDS7473.1	10																																																																																			LOXL4	-	pfam_Lysyl_oxidase,prints_Lysyl_oxidase		0.622	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	G	NM_032211		100013465	-1	no_errors	ENST00000260702	ensembl	human	known	70_37	silent	SNP	0.474	A	A	100013465	G	A	100013465	2	1	115	1	0	0	0	0	0	0	0	1	8925	1136	40	2		2	LOXL4	10	100013465	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	8947022	100013465	35521282	63	17152										
CYP17A1	1586	genome.wustl.edu	37	chr10	104592361	104592361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tggcctccagcaggaggagaCggttacggtcactgatagtt	14	9	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:104592361C>T	ENST00000369887.3	-	6	1217	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	349					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CAGGAGGAGACGGTTACGGTC	0.582																																																	0													149	123	132					10																	104592361		2203	4300	6503	SO:0001583	missense	1586			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1046G>A	10.37:g.104592361C>T	ENSP00000358903:p.Arg349His		Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R349H	ENST00000369887.3	37	c.1046	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	C	2.340	-0.351318	0.05173	.	.	ENSG00000148795	ENST00000369887	T	0.79749	-1.3	5.37	-4.54	0.03452	.	1.501560	0.03139	N	0.166304	T	0.62490	0.2432	N	0.13043	0.29	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.51553	-0.8691	10	0.14656	T	0.56	.	8.2479	0.31700	0.1902:0.496:0.0:0.3138	.	349	P05093	CP17A_HUMAN	H	349	ENSP00000358903:R349H	ENSP00000358903:R349H	R	-	2	0	CYP17A1	104582351	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	-0.134000	0.10436	-1.100000	0.03030	-0.367000	0.07326	CGT	CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.582	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	C	NM_000102		104592361	-1	no_errors	ENST00000369887	ensembl	human	known	70_37	missense	SNP	0.000	T	T	104592361	C	T	104592361	3	4	115	1	0	0	0	0	1	0	0	0	4152	536	19	2	492	2	CYP17A1	10	104592361	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	4578896	104592361	30942386	64	17153										
OBFC1	79991	genome.wustl.edu	37	chr10	105659861	105659861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctcgctcttctctgtatgtgCggatactgcctctgactcgg	10	13	3	1	rs183917764		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:105659861C>T	ENST00000224950.3	-	5	583	c.416G>A	c.(415-417)cGc>cAc	p.R139H	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.R139H	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	139					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCTGTATGTGCGGATACTGCC	0.453																																																	0								C	HIS/ARG	0,4406		0,0,2203	256	203	221		416	0.7	0	10		221	1,8599	1.2+/-3.3	0,1,4299	no	missense	OBFC1	NM_024928.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	139/369	105659861	1,13005	2203	4300	6503	SO:0001583	missense	79991			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.416G>A	10.37:g.105659861C>T	ENSP00000224950:p.Arg139His		D3DR99|Q5TCZ0	Missense_Mutation	SNP	pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1	p.R139H	ENST00000224950.3	37	c.416	CCDS7552.1	10	.	.	.	.	.	.	.	.	.	.	C	9.318	1.057231	0.19907	0.0	1.16E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.23552	1.9;1.9	5.82	0.706	0.18133	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.167601	0.56097	N	0.000038	T	0.17789	0.0427	L	0.46157	1.445	0.27785	N	0.943031	P	0.39624	0.681	B	0.33690	0.168	T	0.08743	-1.0707	10	0.45353	T	0.12	-4.4363	8.4049	0.32608	0.0:0.6176:0.0:0.3824	.	139	Q9H668	STN1_HUMAN	H	139	ENSP00000224950:R139H;ENSP00000358779:R139H	ENSP00000224950:R139H	R	-	2	0	OBFC1	105649851	0.307000	0.24500	0.017000	0.16124	0.273000	0.26683	0.488000	0.22371	-0.120000	0.11809	0.561000	0.74099	CGC	OBFC1	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1		0.453	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	HGNC	protein_coding	OTTHUMT00000050174.1	C	NM_024928		105659861	-1	no_errors	ENST00000224950	ensembl	human	known	70_37	missense	SNP	0.101	T	T	105659861	C	T	105659861	3	4	115	1	0	0	0	0	1	0	0	0	10831	768	27	2	714	2	OBFC1	10	105659861	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	1067500	105659861	29874886	65	17154										
NRAP	4892	genome.wustl.edu	37	chr10	115374013	115374013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ttccaagctccgggaaccaaGcatctgtcctttcattttct	6	13	3	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:115374013G>A	ENST00000359988.3	-	29	3473	c.3229C>T	c.(3229-3231)Ctt>Ttt	p.L1077F	NRAP_ENST00000369360.3_Missense_Mutation_p.L1050F|NRAP_ENST00000369358.4_Missense_Mutation_p.L1085F|NRAP_ENST00000360478.3_Missense_Mutation_p.L1042F	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGGAACCAAGCATCTGTCCT	0.493																																																	0													237	204	215					10																	115374013		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3229C>T	10.37:g.115374013G>A	ENSP00000353078:p.Leu1077Phe			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.L1085F	ENST00000359988.3	37	c.3253	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728574	0.69074	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.18502	2.45;2.45;2.3;2.21	5.65	5.65	0.86999	.	0.055118	0.64402	D	0.000001	T	0.26448	0.0646	L	0.46157	1.445	0.34791	D	0.735764	D;D;P	0.56287	0.957;0.975;0.913	P;P;P	0.56700	0.641;0.804;0.564	T	0.22173	-1.0224	10	0.45353	T	0.12	.	9.5374	0.39231	0.0:0.1206:0.5816:0.2978	.	1077;1042;1077	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	F	1085;1050;1077;1042	ENSP00000358365:L1085F;ENSP00000358367:L1050F;ENSP00000353078:L1077F;ENSP00000353666:L1042F	ENSP00000353078:L1077F	L	-	1	0	NRAP	115364003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.093000	0.30939	2.665000	0.90641	0.650000	0.86243	CTT	NRAP	-	NULL		0.493	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115374013	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115374013	G	A	115374013	3	1	115	1	0	0	0	0	1	0	0	0	10662	971	34	4	2019	4	NRAP	10	115374013	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	9714152	115374013	20160734	66	17155										
ATRNL1	26033	genome.wustl.edu	37	chr10	116919962	116919962	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cttttaactacagttcttttCaaatggtcctaaagtaagta	5	7	2	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:116919962C>T	ENST00000355044.3	+	6	1117	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.Q331*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	331					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTTCTTTTCAAATGGTCCT	0.338																																																	0													166	174	171					10																	116919962		2203	4300	6503	SO:0001587	stop_gained	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.991C>T	10.37:g.116919962C>T	ENSP00000347152:p.Gln331*		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.Q331*	ENST00000355044.3	37	c.991	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.808323	0.96967	.	.	ENSG00000107518	ENST00000355044	.	.	.	5.65	5.65	0.86999	.	0.168264	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8912	17.8978	0.88895	0.0:1.0:0.0:0.0	.	.	.	.	X	331	.	ENSP00000347152:Q331X	Q	+	1	0	ATRNL1	116909952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.661000	0.90470	0.555000	0.69702	CAA	ATRNL1	-	NULL		0.338	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		116919962	1	no_errors	ENST00000355044	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	116919962	C	T	116919962	4	4	115	1	0	0	0	0	0	1	0	0	1208	827	29	1	1013	1	ATRNL1	10	116919962	Nonsense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	1545949	116919962	18614785	67	17156										
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118225615	118225615	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaagttatcaattttatgctGaaagcattcttaatcctgat	6	6	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr10:118225615G>T	ENST00000369230.3	+	8	1008	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	288					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ATTTTATGCTGAAAGCATTCT	0.318																																																	0													149	142	145					10																	118225615		2201	4299	6500	SO:0001587	stop_gained	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.862G>T	10.37:g.118225615G>T	ENSP00000358232:p.Glu288*			Nonsense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.E288*	ENST00000369230.3	37	c.862	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410017	0.42715	.	.	ENSG00000203837	ENST00000369230	.	.	.	4.93	1.0	0.19881	.	0.248262	0.27253	N	0.020212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	4.8629	0.13592	0.3667:0.0:0.4995:0.1338	.	.	.	.	X	288	.	ENSP00000358232:E288X	E	+	1	0	PNLIPRP3	118215605	0.702000	0.27816	0.114000	0.21550	0.088000	0.18126	1.098000	0.31000	0.031000	0.15407	-0.793000	0.03317	GAA	PNLIPRP3	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.318	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118225615	1	no_errors	ENST00000369230	ensembl	human	known	70_37	nonsense	SNP	0.066	T	T	118225615	G	T	118225615	4	4	115	1	0	0	0	0	0	1	0	0	12176	1291	45	3	892	3	PNLIPRP3	10	118225615	Nonsense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	1305653	118225615	17309132	68	17157										
OR52J3	119679	genome.wustl.edu	37	chr11	5068144	5068144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccgttatgtggccgtctgtgCtccactacattacgcaacca	8	14	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr11:5068144C>A	ENST00000380370.1	+	1	389	c.389C>A	c.(388-390)gCt>gAt	p.A130D		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCGTCTGTGCTCCACTACAT	0.493																																																	0													180	118	139					11																	5068144		2201	4298	6499	SO:0001583	missense	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.389C>A	11.37:g.5068144C>A	ENSP00000369728:p.Ala130Asp		Q6IFE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A130D	ENST00000380370.1	37	c.389	CCDS31370.1	11	.	.	.	.	.	.	.	.	.	.	C	1.820	-0.472403	0.04445	.	.	ENSG00000205495	ENST00000380370	T	0.00596	6.32	3.89	-0.35	0.12606	GPCR, rhodopsin-like superfamily (1);	1.140740	0.06705	N	0.772092	T	0.00356	0.0011	N	0.02916	-0.46	0.09310	N	1	B	0.18166	0.026	B	0.30716	0.119	T	0.41770	-0.9490	10	0.28530	T	0.3	.	3.5721	0.07921	0.4253:0.3169:0.0:0.2578	.	130	Q8NH60	O52J3_HUMAN	D	130	ENSP00000369728:A130D	ENSP00000369728:A130D	A	+	2	0	OR52J3	5024720	0.000000	0.05858	0.537000	0.28052	0.021000	0.10359	-1.462000	0.02364	-0.167000	0.10871	-0.127000	0.14921	GCT	OR52J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.493	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	HGNC	protein_coding	OTTHUMT00000142807.1	C	NM_001001916		5068144	1	no_errors	ENST00000380370	ensembl	human	known	70_37	missense	SNP	0.050	A	A	5068144	C	A	5068144	3	1	115	1	0	0	0	0	1	0	0	0	11146	797	28	4	391	4	OR52J3	11	5068144	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		5068144	129938372	69	17158										
RBMXL2	27288	genome.wustl.edu	37	chr11	7111523	7111523	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gagaggaggaggccggagcaGatactaagcaggaacagact	16	7	0	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr11:7111523G>C	ENST00000306904.5	+	1	1359	c.1172G>C	c.(1171-1173)aGa>aCa	p.R391T		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	391	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCGGAGCAGATACTAAGCA	0.542																																																	0													10	11	11					11																	7111523		2191	4292	6483	SO:0001583	missense	27288			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1172G>C	11.37:g.7111523G>C	ENSP00000304139:p.Arg391Thr		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R391T	ENST00000306904.5	37	c.1172	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159167	0.57368	.	.	ENSG00000170748	ENST00000306904	D	0.83673	-1.75	4.15	4.15	0.48705	.	0.000000	0.85682	U	0.000000	D	0.89396	0.6703	M	0.65498	2.005	0.45899	D	0.998743	D	0.71674	0.998	D	0.76071	0.987	D	0.90338	0.4357	10	0.87932	D	0	.	14.7432	0.69472	0.0:0.0:1.0:0.0	.	391	O75526	HNRGT_HUMAN	T	391	ENSP00000304139:R391T	ENSP00000304139:R391T	R	+	2	0	RBMXL2	7068099	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.013000	0.93629	2.594000	0.87642	0.655000	0.94253	AGA	RBMXL2	-	NULL		0.542	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	G	NM_014469		7111523	1	no_errors	ENST00000306904	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7111523	G	C	7111523	3	2	115	1	0	0	0	0	1	0	0	0	13184	942	33	1	1174	1	RBMXL2	11	7111523	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	2043379	7111523	127894993	70	17159										
ABTB2	25841	genome.wustl.edu	37	chr11	34189500	34189500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	caacatctggaccatcgcttCgtccccagcagcgcaggcgt	10	16	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr11:34189500C>T	ENST00000435224.2	-	6	2027	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ABTB2_ENST00000298992.2_Missense_Mutation_p.E349K	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	535					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACCATCGCTTCGTCCCCAGCA	0.552																																																	0													184	112	136					11																	34189500		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1603G>A	11.37:g.34189500C>T	ENSP00000410157:p.Glu535Lys		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.E535K	ENST00000435224.2	37	c.1603	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	C	34	5.320358	0.95682	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.63255	-0.03;-0.03	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	N	0.25332	0.735	0.80722	D	1	P	0.36535	0.557	B	0.34779	0.189	T	0.58934	-0.7548	10	0.62326	D	0.03	-24.5875	18.3507	0.90337	0.0:1.0:0.0:0.0	.	349	Q8N961	ABTB2_HUMAN	K	535;349	ENSP00000410157:E535K;ENSP00000298992:E349K	ENSP00000298992:E349K	E	-	1	0	ABTB2	34146076	1.000000	0.71417	0.994000	0.49952	0.614000	0.37383	7.818000	0.86416	2.329000	0.79093	0.491000	0.48974	GAA	ABTB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.552	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	C	NM_145804		34189500	-1	no_errors	ENST00000435224	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34189500	C	T	34189500	3	4	115	1	0	0	0	0	1	0	0	0	103	893	31	1	1522	1	ABTB2	11	34189500	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	27077977	34189500	100817016	71	17160										
PRDM11	56981	genome.wustl.edu	37	chr11	45204615	45204615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tccccaagggccacatcttcGgcccctatgaggggcagatc	11	15	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr11:45204615G>A	ENST00000530656.1	+	4	529	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	PRDM11_ENST00000263765.4_Missense_Mutation_p.G177S|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.G143S			Q9NQV5	PRD11_HUMAN	PR domain containing 11	177	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCACATCTTCGGCCCCTATGA	0.582											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(118;1511 1736 6472 36603 43224)												0													65	65	65					11																	45204615		2203	4299	6502	SO:0001583	missense	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.529G>A	11.37:g.45204615G>A	ENSP00000435976:p.Gly177Ser	929	Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.G177S	ENST00000530656.1	37	c.529		11	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295626	0.81025	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.13	4.19	0.49359	SET domain (2);	0.093172	0.47093	D	0.000255	T	0.78910	0.4358	M	0.88512	2.96	0.46981	D	0.999279	D	0.89917	1.0	D	0.97110	1.0	T	0.83095	-0.0131	10	0.87932	D	0	-25.5187	13.7505	0.62904	0.0:0.154:0.846:0.0	.	177	Q9NQV5	PRD11_HUMAN	S	177;177;143;143	ENSP00000263765:G177S;ENSP00000435976:G177S;ENSP00000431898:G143S;ENSP00000394314:G143S	ENSP00000263765:G177S	G	+	1	0	PRDM11	45161191	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	8.701000	0.91331	1.115000	0.41800	0.484000	0.47621	GGC	PRDM11	-	pfscan_SET_dom		0.582	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	G	NM_020229		45204615	1	no_errors	ENST00000263765	ensembl	human	known	70_37	missense	SNP	0.999	A	A	45204615	G	A	45204615	3	1	115	1	0	0	0	0	1	0	0	0	12479	1116	39	2	543	2	PRDM11	11	45204615	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	11015115	45204615	89801901	72	17161										
MMP12	4321	genome.wustl.edu	37	chr11	102738746	102738746	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cctttggatcactagaatggCcaagacctaaggaatggcca	10	10	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr11:102738746C>T	ENST00000532855.1	-	0	775							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ACTAGAATGGCCAAGACCTAA	0.453																																																	0													76	73	74					11																	102738746		1920	4129	6049			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738746C>T			B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-		0.453	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102738746	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	rna	SNP	0.000	T	T	102738746	C	T	102738746	1	4	115	0	1	0	0	0	0	0	0	0	9674	739	26	4		4	MMP12	11	102738746	RNA	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	57534131	102738746	32267770	73	17162										
PANX3	116337	genome.wustl.edu	37	chr11	124481634	124481634	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cgcccaggagttctcctctgGtaagttgcttccaagaccca	9	14	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr11:124481634G>T	ENST00000284288.2	+	1	248		c.e1+1			NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3						cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTCTCCTCTGGTAAGTTGCTT	0.577																																																	0													72	75	74					11																	124481634		2201	4299	6500	SO:0001630	splice_region_variant	116337			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.181+1G>T	11.37:g.124481634G>T				Splice_Site	SNP	-	e1+1	ENST00000284288.2	37	c.181+1	CCDS8447.1	11	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979638	0.34942	.	.	ENSG00000154143	ENST00000284288	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0228	0.89260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PANX3	123986844	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	9.461000	0.97646	2.476000	0.83614	0.655000	0.94253	.	PANX3	-	-		0.577	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	G		Intron	124481634	1	no_errors	ENST00000284288	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	124481634	G	T	124481634	5	4	115	1	0	0	0	0	0	0	1	0	11446	1275	44	4	184	4	PANX3	11	124481634	Splice_Site	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	21742888	124481634	10524882	74	17163										
EFCAB4B	84766	genome.wustl.edu	37	chr12	3782683	3782683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tgggagatgattctggtcagGaagtcttcaaagttggacag	14	5	4	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:3782683G>T	ENST00000252322.1	-	7	1068	c.600C>A	c.(598-600)ttC>ttA	p.F200L	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.F200L|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.F200L	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		200					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTCTGGTCAGGAAGTCTTCAA	0.502																																																	0													158	145	149					12																	3782683		2203	4300	6503	SO:0001583	missense	84766																														ENST00000252322.1:c.600C>A	12.37:g.3782683G>T	ENSP00000252322:p.Phe200Leu		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.F200L	ENST00000252322.1	37	c.600	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145685	0.21288	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.64085	-0.08;2.37;2.33	4.55	2.31	0.28768	.	0.053459	0.85682	N	0.000000	T	0.48484	0.1502	L	0.46157	1.445	0.33865	D	0.634255	B;B;B	0.30542	0.284;0.02;0.058	B;B;B	0.27380	0.079;0.016;0.028	T	0.53947	-0.8366	10	0.20046	T	0.44	-13.1801	9.2615	0.37614	0.2199:0.0:0.7801:0.0	.	200;200;200	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	L	200	ENSP00000409382:F200L;ENSP00000412496:F200L;ENSP00000252322:F200L	ENSP00000252322:F200L	F	-	3	2	EFCAB4B	3652944	1.000000	0.71417	0.831000	0.32960	0.359000	0.29487	0.540000	0.23191	0.899000	0.36444	0.650000	0.86243	TTC	EFCAB4B	-	NULL		0.502	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	G			3782683	-1	no_errors	ENST00000440314	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3782683	G	T	3782683	3	4	115	1	0	0	0	0	1	0	0	0	4947	1165	41	3	1843	3	EFCAB4B	12	3782683	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		3782683	130069212	75	17164										
LIMA1	51474	genome.wustl.edu	37	chr12	50571413	50571413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tagcttcttcagatctagatCgacatcctcaggaacttcgg	8	11	4	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:50571413C>T	ENST00000341247.4	-	11	1863	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	LIMA1_ENST00000394943.3_Missense_Mutation_p.D573N|LIMA1_ENST00000552909.1_Missense_Mutation_p.D411N|LIMA1_ENST00000552823.1_Missense_Mutation_p.D412N|LIMA1_ENST00000547825.1_Missense_Mutation_p.D270N|LIMA1_ENST00000552783.1_Missense_Mutation_p.D413N|LIMA1_ENST00000552491.1_Missense_Mutation_p.D269N	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	572					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGATCTAGATCGACATCCTCA	0.483																																																	0													121	121	121					12																	50571413		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1714G>A	12.37:g.50571413C>T	ENSP00000340184:p.Asp572Asn		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D573N	ENST00000341247.4	37	c.1717	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096422	0.76870	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.85861	-1.26;-1.26;-1.62;-2.04;-1.3;-1.63;-1.63	5.38	4.48	0.54585	.	0.205376	0.49916	N	0.000127	D	0.90304	0.6967	M	0.62723	1.935	0.45415	D	0.998393	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.974;0.978	D	0.90238	0.4284	10	0.48119	T	0.1	.	14.1156	0.65151	0.0:0.9275:0.0:0.0725	.	582;572;411	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	N	269;270;412;573;572;413;411;491	ENSP00000448463:D269N;ENSP00000448706:D270N;ENSP00000450266:D412N;ENSP00000378400:D573N;ENSP00000340184:D572N;ENSP00000448779:D413N;ENSP00000450087:D411N	ENSP00000340184:D572N	D	-	1	0	LIMA1	48857680	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	3.827000	0.55745	1.396000	0.46663	0.655000	0.94253	GAT	LIMA1	-	NULL		0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	C	NM_016357		50571413	-1	no_errors	ENST00000394943	ensembl	human	known	70_37	missense	SNP	0.997	T	T	50571413	C	T	50571413	3	4	115	1	0	0	0	0	1	0	0	0	8816	884	31	1	569	1	LIMA1	12	50571413	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	46788730	50571413	83280482	76	17165										
KRT85	3891	genome.wustl.edu	37	chr12	52760950	52760950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	acgcccccggagcggtagccGaagctgcgtccgcaggagcc	15	16	0	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:52760950G>A	ENST00000257901.3	-	1	315	c.240C>T	c.(238-240)ttC>ttT	p.F80F	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	80	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.F80F(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGTAGCCGAAGCTGCGTC	0.697																																																	1	Substitution - coding silent(1)	endometrium(1)											30	39	36					12																	52760950		2199	4286	6485	SO:0001819	synonymous_variant	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.240C>T	12.37:g.52760950G>A			Q9NSB1	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.F80	ENST00000257901.3	37	c.240	CCDS8824.1	12																																																																																			KRT85	-	NULL		0.697	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	G	NM_002283		52760950	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	silent	SNP	0.855	A	A	52760950	G	A	52760950	2	1	115	1	0	0	0	0	0	0	0	1	8519	1049	37	1		1	KRT85	12	52760950	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	2189537	52760950	81090945	77	17166										
IRAK3	11213	genome.wustl.edu	37	chr12	66605255	66605255	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ttaaatcttccatcagctttCaaaatatcatagaaggaact	4	8	4	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:66605255C>G	ENST00000261233.4	+	5	887	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q95E	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CATCAGCTTTCAAAATATCAT	0.343																																																	0													58	57	57					12																	66605255		2202	4299	6501	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.466C>G	12.37:g.66605255C>G	ENSP00000261233:p.Gln156Glu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.Q156E	ENST00000261233.4	37	c.466	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862334	0.17178	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.32988	1.43;1.43	6.03	5.08	0.68730	Protein kinase-like domain (1);	0.417296	0.25183	N	0.032502	T	0.17789	0.0427	N	0.24115	0.695	0.28819	N	0.8978	P;B	0.36837	0.571;0.435	B;B	0.30855	0.121;0.057	T	0.09164	-1.0687	9	.	.	.	-4.1524	10.8203	0.46601	0.2307:0.7693:0.0:0.0	.	95;156	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	E	156;95	ENSP00000261233:Q156E;ENSP00000409852:Q95E	.	Q	+	1	0	IRAK3	64891522	0.996000	0.38824	0.993000	0.49108	0.637000	0.38172	1.410000	0.34691	2.868000	0.98415	0.557000	0.71058	CAA	IRAK3	-	superfamily_Kinase-like_dom		0.343	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	C			66605255	1	no_errors	ENST00000261233	ensembl	human	known	70_37	missense	SNP	0.995	G	G	66605255	C	G	66605255	3	3	115	1	0	0	0	0	1	0	0	0	7844	827	29	1	484	1	IRAK3	12	66605255	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	13844305	66605255	67246640	78	17167										
IL26	55801	genome.wustl.edu	37	chr12	68619010	68619010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccttgcaattgcagttgaccAaaaacgtcttccatgaagaa	7	10	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:68619010A>G	ENST00000229134.4	-	3	346	c.282T>C	c.(280-282)ttT>ttC	p.F94F	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	94					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GCAGTTGACCAAAAACGTCTT	0.358																																																	0													83	77	79					12																	68619010		2203	4300	6503	SO:0001819	synonymous_variant	55801			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.282T>C	12.37:g.68619010A>G				Silent	SNP	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core	p.F94	ENST00000229134.4	37	c.282	CCDS8981.1	12																																																																																			IL26	-	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core		0.358	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL26	HGNC	protein_coding	OTTHUMT00000402302.1	A	NM_018402		68619010	-1	no_errors	ENST00000229134	ensembl	human	known	70_37	silent	SNP	1.000	G	G	68619010	A	G	68619010	2	3	115	1	0	0	0	0	0	0	0	1	7699	127	5	5		5	IL26	12	68619010	Silent	SNP	A	TCGA-EK-A2RO-01A-11D-A18J-09	2013755	68619010	65232885	79	17168										
BEST3	144453	genome.wustl.edu	37	chr12	70048836	70048836	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctctgaggatgtttctgtgtCaattaaaagagctggctgag	12	6	3	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:70048836C>G	ENST00000330891.5	-	10	2084	c.1858G>C	c.(1858-1860)Gac>Cac	p.D620H	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.D514H|BEST3_ENST00000488961.1_Missense_Mutation_p.D407H	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	620					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTTCTGTGTCAATTAAAAGA	0.488																																																	0													86	83	84					12																	70048836		1891	4121	6012	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1858G>C	12.37:g.70048836C>G	ENSP00000332413:p.Asp620His		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D620H	ENST00000330891.5	37	c.1858	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833846	0.71258	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98135	-4.4;-4.74;-4.71	5.53	4.62	0.57501	.	0.539093	0.19203	N	0.120140	D	0.96262	0.8781	L	0.34521	1.04	0.49798	D	0.999829	D;D	0.57571	0.97;0.98	P;P	0.50231	0.62;0.635	D	0.95323	0.8422	10	0.45353	T	0.12	-4.4881	14.2229	0.65839	0.0:0.8505:0.1495:0.0	.	620;407	Q8N1M1;B5MDI8	BEST3_HUMAN;.	H	407;620;514	ENSP00000433213:D407H;ENSP00000332413:D620H;ENSP00000449548:D514H	ENSP00000332413:D620H	D	-	1	0	BEST3	68335103	0.029000	0.19370	0.019000	0.16419	0.403000	0.30841	1.142000	0.31540	1.289000	0.44618	0.563000	0.77884	GAC	BEST3	-	NULL		0.488	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70048836	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	0.302	G	G	70048836	C	G	70048836	3	3	115	1	0	0	0	0	1	0	0	0	1407	826	29	1	152	1	BEST3	12	70048836	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	1429826	70048836	63803059	80	17169										
PTPRB	5787	genome.wustl.edu	37	chr12	70946731	70946731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tagtctgatacacccgaatgGaggcattgtgcctgtactcc	10	11	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:70946731G>T	ENST00000261266.5	-	19	4588	c.4559C>A	c.(4558-4560)tCc>tAc	p.S1520Y	PTPRB_ENST00000550857.1_Missense_Mutation_p.S1430Y|PTPRB_ENST00000334414.6_Missense_Mutation_p.S1738Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1430Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1430Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1650Y	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1520	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACCCGAATGGAGGCATTGTG	0.483																																																	0													147	144	145					12																	70946731		1961	4162	6123	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4559C>A	12.37:g.70946731G>T	ENSP00000261266:p.Ser1520Tyr		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S1738Y	ENST00000261266.5	37	c.5213	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292968	0.60086	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.03272	4.02;4.03;3.99;4.08;4.03;4.07	5.76	5.76	0.90799	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999	T	0.01520	-1.1334	10	0.59425	D	0.04	.	19.9635	0.97259	0.0:0.0:1.0:0.0	.	1430;1430;1738;1520;1650	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Y	1738;1430;1650;1430;1430;1520	ENSP00000334928:S1738Y;ENSP00000393028:S1430Y;ENSP00000448058:S1650Y;ENSP00000438927:S1430Y;ENSP00000447302:S1430Y;ENSP00000261266:S1520Y	ENSP00000261266:S1520Y	S	-	2	0	PTPRB	69232998	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	9.352000	0.97076	2.714000	0.92807	0.591000	0.81541	TCC	PTPRB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.483	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	G			70946731	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70946731	G	T	70946731	3	4	115	1	0	0	0	0	1	0	0	0	12826	1174	41	3	1490	3	PTPRB	12	70946731	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	897895	70946731	62905164	81	17170										
GLIPR1	11010	genome.wustl.edu	37	chr12	75892666	75892666	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gtaacagatacacttctctcTttctcattgttaattcagta	4	9	4	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:75892666T>C	ENST00000266659.3	+	6	910	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	KRR1_ENST00000229214.4_3'UTR	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	237					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CACTTCTCTCTTTCTCATTGT	0.338																																																	0													162	149	153					12																	75892666		2203	4300	6503	SO:0001583	missense	11010			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.709T>C	12.37:g.75892666T>C	ENSP00000266659:p.Phe237Leu		A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.F237L	ENST00000266659.3	37	c.709	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725958	0.30593	.	.	ENSG00000139278	ENST00000266659	T	0.06142	3.34	5.16	1.36	0.22044	.	0.446865	0.23600	N	0.046442	T	0.06188	0.0160	M	0.67953	2.075	0.58432	D	0.999994	B	0.29378	0.243	B	0.27380	0.079	T	0.20438	-1.0275	10	0.11794	T	0.64	.	5.5515	0.17093	0.1672:0.0:0.3469:0.4859	.	237	P48060	GLIP1_HUMAN	L	237	ENSP00000266659:F237L	ENSP00000266659:F237L	F	+	1	0	GLIPR1	74178933	0.976000	0.34144	0.996000	0.52242	0.410000	0.31052	0.479000	0.22228	0.944000	0.37579	0.459000	0.35465	TTT	GLIPR1	-	NULL		0.338	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	T	NM_006851		75892666	1	no_errors	ENST00000266659	ensembl	human	known	70_37	missense	SNP	0.909	C	C	75892666	T	C	75892666	3	2	115	1	0	0	0	0	1	0	0	0	6460	1609	56	5	731	5	GLIPR1	12	75892666	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09	4945935	75892666	57959229	82	17171										
C12orf63	144535	genome.wustl.edu	37	chr12	97073515	97073515	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaaagttgctttcattatttCttgcacagacacaaggtaaa	7	7	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:97073515C>T	ENST00000524981.4	+	40	5724	c.5701C>T	c.(5701-5703)Ctt>Ttt	p.L1901F				Q96N23	CL055_HUMAN		0																	TTCATTATTTCTTGCACAGAC	0.428																																																	0													168	160	162					12																	97073515		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.5701C>T	12.37:g.97073515C>T	ENSP00000431759:p.Leu1901Phe			Missense_Mutation	SNP	NULL	p.L326F	ENST00000524981.4	37	c.976		12	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561953	0.65538	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.27	5.27	0.74061	.	0.663319	0.14940	N	0.289594	T	0.79981	0.4540	M	0.70275	2.135	0.42019	D	0.990975	D	0.89917	1.0	D	0.87578	0.998	T	0.81044	-0.1111	9	0.72032	D	0.01	-15.4589	18.4799	0.90808	0.0:1.0:0.0:0.0	.	326	Q6ZTY8	CL063_HUMAN	F	1901;326	.	ENSP00000345466:L326F	L	+	1	0	C12orf63	95597646	1.000000	0.71417	0.969000	0.41365	0.761000	0.43186	5.448000	0.66612	2.437000	0.82529	0.655000	0.94253	CTT	C12orf55	-	NULL		0.428	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97073515	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.998	T	T	97073515	C	T	97073515	3	4	115	1	0	0	0	0	1	0	0	0	1710	913	32	1	998	1	C12orf63	12	97073515	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	21180849	97073515	36778380	83	17172										
ACACB	32	genome.wustl.edu	37	chr12	109625846	109625846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctgtccaggaactgaatttcCggagcagcaagaacgtgtgg	13	9	0	2	rs202216589		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr12:109625846C>T	ENST00000338432.7	+	13	2142	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	ACACB_ENST00000377854.5_Missense_Mutation_p.R675W|ACACB_ENST00000377848.3_Missense_Mutation_p.R675W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	675	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACTGAATTTCCGGAGCAGCAA	0.512																																																	0								C	TRP/ARG	0,4406		0,0,2203	99	98	99		2023	5.3	1	12		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	675/2459	109625846	1,13005	2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2023C>T	12.37:g.109625846C>T	ENSP00000341044:p.Arg675Trp		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R675W	ENST00000338432.7	37	c.2023	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	c	32	5.147721	0.94603	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.44083	0.93;0.93;0.93	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85632	0.1271	10	0.87932	D	0	.	18.6174	0.91308	0.0:1.0:0.0:0.0	.	675	O00763	ACACB_HUMAN	W	675	ENSP00000341044:R675W;ENSP00000367079:R675W;ENSP00000367085:R675W	ENSP00000341044:R675W	R	+	1	2	ACACB	108110229	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.749000	0.85096	2.509000	0.84616	0.531000	0.56144	CGG	ACACB	-	pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom		0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	C	NM_001093		109625846	1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109625846	C	T	109625846	3	4	115	1	0	0	0	0	1	0	0	0	107	643	23	2	2069	2	ACACB	12	109625846	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	12552331	109625846	24226049	84	17173										
RXFP2	122042	genome.wustl.edu	37	chr13	32367059	32367059	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggaaaacggcagacctcagtCatcctcatttgcatctggat	9	11	4	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr13:32367059C>T	ENST00000298386.2	+	16	1691	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V	RXFP2_ENST00000380314.1_Silent_p.V516V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	540					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGACCTCAGTCATCCTCATTT	0.403																																																	0													89	84	86					13																	32367059		2203	4300	6503	SO:0001819	synonymous_variant	122042			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1620C>T	13.37:g.32367059C>T			B1ALE9|Q3KU23	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.V540	ENST00000298386.2	37	c.1620	CCDS9342.1	13																																																																																			RXFP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.403	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	C	NM_130806		32367059	1	no_errors	ENST00000298386	ensembl	human	known	70_37	silent	SNP	0.203	T	T	32367059	C	T	32367059	2	4	115	1	0	0	0	0	0	0	0	1	13790	813	29	1		1	RXFP2	13	32367059	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		32367059	82802819	85	17174										
STOML3	161003	genome.wustl.edu	37	chr13	39544498	39544498	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	atagacaactccatctacctGagtagttacggagtctctgg	9	10	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr13:39544498G>A	ENST00000379631.4	-	5	684	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	STOML3_ENST00000423210.1_Nonsense_Mutation_p.Q105*	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	114					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCATCTACCTGAGTAGTTACG	0.448																																																	0													135	131	132					13																	39544498		2203	4300	6503	SO:0001587	stop_gained	161003			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.340C>T	13.37:g.39544498G>A	ENSP00000368952:p.Gln114*		B4E285|Q5JS35	Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.Q114*	ENST00000379631.4	37	c.340	CCDS9367.1	13	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570928	0.86542	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	.	.	.	5.75	4.9	0.64082	.	0.290655	0.38492	N	0.001678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-13.2537	12.8002	0.57582	0.0:0.0:0.7029:0.2971	.	.	.	.	X	114;105	.	ENSP00000368952:Q114X	Q	-	1	0	STOML3	38442498	0.004000	0.15560	0.628000	0.29241	0.273000	0.26683	0.759000	0.26461	1.416000	0.47057	0.563000	0.77884	CAG	STOML3	-	pfam_Band_7,smart_Band_7,prints_Stomatin		0.448	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STOML3	HGNC	protein_coding	OTTHUMT00000044604.2	G			39544498	-1	no_errors	ENST00000379631	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	39544498	G	A	39544498	4	1	115	1	0	0	0	0	0	1	0	0	15345	1299	45	1	547	1	STOML3	13	39544498	Nonsense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	7177439	39544498	75625380	86	17175										
LHFP	10186	genome.wustl.edu	37	chr13	40175136	40175136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cgctggggatgccctggaagGaggcatagcgcccacattcc	14	13	0	0	rs200931835		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr13:40175136G>A	ENST00000379589.3	-	2	680	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	73						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GCCCTGGAAGGAGGCATAGCG	0.597			T	HMGA2	lipoma								G|||	1	0.000199681	0	0	5008	,	,		19630	0		0	False		,,,				2504	0.001							Dom	yes		13	13q12	10186	lipoma HMGIC fusion partner		M	0													199	172	181					13																	40175136		2203	4300	6503	SO:0001583	missense	10186			AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.218C>T	13.37:g.40175136G>A	ENSP00000368908:p.Ser73Phe		B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.S73F	ENST00000379589.3	37	c.218	CCDS9369.1	13	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361392	0.82353	.	.	ENSG00000183722	ENST00000379589	T	0.73575	-0.76	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	D	0.87297	0.6142	M	0.83012	2.62	0.51482	D	0.999927	D	0.89917	1.0	D	0.79108	0.992	D	0.87902	0.2691	9	.	.	.	.	18.101	0.89505	0.0:0.0:1.0:0.0	.	73	Q9Y693	LHFP_HUMAN	F	73	ENSP00000368908:S73F	.	S	-	2	0	LHFP	39073136	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.414000	0.80117	2.522000	0.85027	0.655000	0.94253	TCC	LHFP	-	pfam_Lipome_HGMIC_fus_partner-like		0.597	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFP	HGNC	protein_coding	OTTHUMT00000044619.1	G	NM_005780		40175136	-1	no_errors	ENST00000379589	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40175136	G	A	40175136	3	1	115	1	0	0	0	0	1	0	0	0	8783	1174	41	1	396	1	LHFP	13	40175136	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	630638	40175136	74994742	87	17176										
INTS6	26512	genome.wustl.edu	37	chr13	52025274	52025274	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	agcctgaaggtttttcaattCattcataaacgttgcatggt	8	7	3	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr13:52025274C>T	ENST00000311234.4	-	3	698	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	INTS6_ENST00000463928.1_Missense_Mutation_p.E76K|INTS6_ENST00000425000.1_5'UTR|INTS6-AS1_ENST00000595424.1_RNA|INTS6_ENST00000491723.1_5'UTR|INTS6-AS1_ENST00000594959.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6_ENST00000442263.3_Missense_Mutation_p.E76K|INTS6_ENST00000398119.2_Missense_Mutation_p.E63K|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000598905.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6_ENST00000420668.2_Missense_Mutation_p.E76K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	76	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTTTTCAATTCATTCATAAAC	0.333																																																	0													84	88	86					13																	52025274		2203	4299	6502	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.226G>A	13.37:g.52025274C>T	ENSP00000310260:p.Glu76Lys		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.E76K	ENST00000311234.4	37	c.226	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.470705	0.96274	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000420668;ENST00000491189;ENST00000488009;ENST00000485178;ENST00000483288;ENST00000442263	T;T;T;T;T;T	0.65732	2.63;-0.17;2.63;-0.17;-0.17;2.63	5.65	5.65	0.86999	von Willebrand factor, type A (3);	0.099758	0.64402	D	0.000002	D	0.83013	0.5162	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.83275	0.969;0.996	D	0.84714	0.0736	10	0.52906	T	0.07	-9.0788	18.7157	0.91675	0.0:1.0:0.0:0.0	.	76;76	Q9UL03-2;Q9UL03	.;INT6_HUMAN	K	76;63;76;3;3;63;63;76	ENSP00000310260:E76K;ENSP00000381187:E63K;ENSP00000388585:E76K;ENSP00000419569:E63K;ENSP00000417707:E63K;ENSP00000411245:E76K	ENSP00000310260:E76K	E	-	1	0	INTS6	50923275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.798000	0.85924	2.663000	0.90544	0.561000	0.74099	GAA	INTS6	-	pfam_VWF_A,pfscan_VWF_A		0.333	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	C	NM_012141		52025274	-1	no_errors	ENST00000311234	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52025274	C	T	52025274	3	4	115	1	0	0	0	0	1	0	0	0	7802	835	29	1	2510	1	INTS6	13	52025274	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	11850138	52025274	63144604	88	17177										
JUB	84962	genome.wustl.edu	37	chr14	23445919	23445919	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	agccttgcaacgcaaagttcGccctagaaacaatagagaag	9	10	0	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr14:23445919G>A	ENST00000262713.2	-	3	1486	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	AJUBA_ENST00000397388.3_5'UTR|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R371*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	371	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CGCAAAGTTCGCCCTAGAAAC	0.493																																																	0													118	109	112					14																	23445919		2203	4300	6503	SO:0001587	stop_gained	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1111C>T	14.37:g.23445919G>A	ENSP00000262713:p.Arg371*		A8MX18|D3DS37	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R371*	ENST00000262713.2	37	c.1111	CCDS9581.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.909110	0.97093	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.74	-0.407	0.12385	.	0.185059	0.34802	N	0.003678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6627	0.45712	0.0:0.1026:0.3529:0.5444	.	.	.	.	X	371	.	ENSP00000262713:R371X	R	-	1	2	JUB	22515759	0.996000	0.38824	0.900000	0.35374	0.855000	0.48748	2.085000	0.41634	0.029000	0.15352	0.655000	0.94253	CGA	AJUBA	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.493	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	G			23445919	-1	no_errors	ENST00000262713	ensembl	human	known	70_37	nonsense	SNP	0.379	A	A	23445919	G	A	23445919	4	1	115	1	0	0	0	0	0	1	0	0	7988	1095	38	2	529	2	JUB	14	23445919	Nonsense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		23445919	83903621	89	17178										
IPO4	79711	genome.wustl.edu	37	chr14	24653559	24653559	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gcagaggcccagacccagctGgcagcattcctcagccagcg	12	16	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr14:24653559G>A	ENST00000354464.6	-	17	1878	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	568					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGACCCAGCTGGCAGCATTCC	0.672																																																	0													16	22	20					14																	24653559		2165	4261	6426	SO:0001587	stop_gained	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1702C>T	14.37:g.24653559G>A	ENSP00000346453:p.Gln568*		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.Q568*	ENST00000354464.6	37	c.1702	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.207482	0.98706	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.4	5.4	0.78164	.	0.226336	0.39544	N	0.001326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-10.7081	18.116	0.89555	0.0:0.0:1.0:0.0	.	.	.	.	X	568;244	.	ENSP00000346453:Q568X	Q	-	1	0	IPO4	23723399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.025000	0.70864	2.814000	0.96858	0.655000	0.94253	CAG	IPO4	-	superfamily_ARM-type_fold		0.672	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	G	NM_024658		24653559	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	24653559	G	A	24653559	4	1	115	1	0	0	0	0	0	1	0	0	7815	1357	47	4	1599	4	IPO4	14	24653559	Nonsense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	1207640	24653559	82695981	90	17179										
AKAP6	9472	genome.wustl.edu	37	chr14	33292524	33292524	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aaagatataagtagcagtgaGatgaccaatccctctgatac	8	8	1	4			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr14:33292524G>C	ENST00000280979.4	+	13	5675	c.5505G>C	c.(5503-5505)gaG>gaC	p.E1835D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1835					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTAGCAGTGAGATGACCAATC	0.378																																					Melanoma(49;821 1200 7288 13647 42351)												0													96	97	96					14																	33292524		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5505G>C	14.37:g.33292524G>C	ENSP00000280979:p.Glu1835Asp		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.E1835D	ENST00000280979.4	37	c.5505	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	4.723	0.134439	0.09032	.	.	ENSG00000151320	ENST00000280979	T	0.05513	3.43	5.48	-5.08	0.02929	.	0.352189	0.30093	N	0.010423	T	0.05181	0.0138	L	0.55103	1.725	0.18873	N	0.999988	B	0.21753	0.06	B	0.17433	0.018	T	0.22417	-1.0217	10	0.35671	T	0.21	-7.3128	7.2086	0.25921	0.4132:0.2811:0.3056:0.0	.	1835	Q13023	AKAP6_HUMAN	D	1835	ENSP00000280979:E1835D	ENSP00000280979:E1835D	E	+	3	2	AKAP6	32362275	0.217000	0.23597	0.000000	0.03702	0.711000	0.40976	0.006000	0.13152	-1.255000	0.02481	0.650000	0.86243	GAG	AKAP6	-	NULL		0.378	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	G	NM_004274		33292524	1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33292524	G	C	33292524	3	2	115	1	0	0	0	0	1	0	0	0	455	933	33	1	5551	1	AKAP6	14	33292524	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	8638965	33292524	74057016	91	17180										
MAPKBP1	23005	genome.wustl.edu	37	chr15	42116052	42116052	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaaaagctcacagtacaactGagagatgggcctgtttgggg	14	7	1	2	rs140684640		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr15:42116052G>T	ENST00000456763.2	+	30	4220	c.4024G>T	c.(4024-4026)Gag>Tag	p.E1342*	MAPKBP1_ENST00000457542.2_Nonsense_Mutation_p.E1336*|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.E1175*|MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.E1219*	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1342										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGTACAACTGAGAGATGGGC	0.627																																																	0													67	76	73					15																	42116052		2203	4300	6503	SO:0001587	stop_gained	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4024G>T	15.37:g.42116052G>T	ENSP00000393099:p.Glu1342*		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1342*	ENST00000456763.2	37	c.4024	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	40	8.118062	0.98662	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	.	.	.	5.69	4.77	0.60923	.	0.592478	0.17780	N	0.162296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-12.8264	11.1788	0.48616	0.0:0.1165:0.7055:0.1779	.	.	.	.	X	1336;1219;1175;1342	.	ENSP00000221214:E1219X	E	+	1	0	MAPKBP1	39903344	1.000000	0.71417	0.815000	0.32552	0.152000	0.21847	6.720000	0.74723	1.381000	0.46364	0.655000	0.94253	GAG	MAPKBP1	-	NULL		0.627	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	G	NM_014994		42116052	1	no_errors	ENST00000456763	ensembl	human	known	70_37	nonsense	SNP	0.984	T	T	42116052	G	T	42116052	4	4	115	1	0	0	0	0	0	1	0	0	9315	1291	45	3	4138	3	MAPKBP1	15	42116052	Nonsense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		42116052	60415340	92	17181										
LBXCOR1	390598	genome.wustl.edu	37	chr15	68120237	68120237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gcgcagggggcggcccagacGgtgaacagcccactggaccc	16	15	0	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr15:68120237G>A	ENST00000380035.2	+	2	2129	c.2071G>A	c.(2071-2073)Ggt>Agt	p.G691S	SKOR1_ENST00000554054.1_Missense_Mutation_p.G663S|SKOR1_ENST00000389002.1_Missense_Mutation_p.G647S|SKOR1_ENST00000341418.5_Splice_Site_p.A631T|SKOR1_ENST00000554240.1_Missense_Mutation_p.G652S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	691					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGGCCCAGACGGTGAACAGCC	0.746																																																	0													14	16	16					15																	68120237		2175	4275	6450	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2071G>A	15.37:g.68120237G>A	ENSP00000369374:p.Gly691Ser		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.G691S	ENST00000380035.2	37	c.2071		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.917|3.917	-0.018900|-0.018900	0.07681|0.07681	.|.	.|.	ENSG00000188779|ENSG00000188779	ENST00000341418|ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T|T;T;T;T	0.13657|0.15718	2.57|2.4;2.4;2.4;2.4	4.56|4.56	-0.736|-0.736	0.11133|0.11133	.|.	.|0.700955	.|0.12395	.|N	.|0.472645	T|T	0.06462|0.06462	0.0166|0.0166	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.28971	.|0.229	.|B	.|0.24006	.|0.05	T|T	0.32134|0.32134	-0.9918|-0.9918	7|10	0.56958|0.35671	D|T	0.05|0.21	-0.0412|-0.0412	3.7432|3.7432	0.08539|0.08539	0.3755:0.0:0.4611:0.1634|0.3755:0.0:0.4611:0.1634	.|.	.|647	.|P84550-3	.|.	T|S	631|652;663;691;647	ENSP00000343200:A631T|ENSP00000451193:G652S;ENSP00000452361:G663S;ENSP00000369374:G691S;ENSP00000373654:G647S	ENSP00000343200:A631T|ENSP00000369374:G691S	A|G	+|+	1|1	0|0	SKOR1|SKOR1	65907291|65907291	0.814000|0.814000	0.29104|0.29104	0.000000|0.000000	0.03702|0.03702	0.225000|0.225000	0.24961|0.24961	0.830000|0.830000	0.27462|0.27462	-0.311000|-0.311000	0.08754|0.08754	-0.136000|-0.136000	0.14681|0.14681	GCT|GGT	SKOR1	-	NULL		0.746	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	G	NM_001031807		68120237	1	no_errors	ENST00000380035	ensembl	human	known	70_37	missense	SNP	0.001	A	A	68120237	G	A	68120237	3	1	115	1	0	0	0	0	1	0	0	0	8675	1116	39	2	1949	2	LBXCOR1	15	68120237	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	26004185	68120237	34411155	93	17182										
AGBL1	123624	genome.wustl.edu	37	chr15	86697674	86697674	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ttcttagataaaaagattggAcggaaggccctagaattgga	11	5	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr15:86697674A>G	ENST00000441037.2	+	3	233	c.138A>G	c.(136-138)ggA>ggG	p.G46G	AGBL1_ENST00000421325.2_Silent_p.G46G	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	46					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AAAAGATTGGACGGAAGGCCC	0.448																																																	0													79	80	80					15																	86697674		1906	4125	6031	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.138A>G	15.37:g.86697674A>G			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.G46	ENST00000441037.2	37	c.138	CCDS58398.1	15																																																																																			AGBL1	-	superfamily_ARM-type_fold		0.448	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	A	NM_152336		86697674	1	no_errors	ENST00000441037	ensembl	human	known	70_37	silent	SNP	1.000	G	G	86697674	A	G	86697674	2	3	115	1	0	0	0	0	0	0	0	1	375	262	10	5		5	AGBL1	15	86697674	Silent	SNP	A	TCGA-EK-A2RO-01A-11D-A18J-09	18577437	86697674	15833718	94	17183										
LRRK1	79705	genome.wustl.edu	37	chr15	101565148	101565148	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gaggaggccgtggccaacctCcagttctggctgctcaacat	12	13	2	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr15:101565148C>G	ENST00000388948.3	+	16	2567	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L	LRRK1_ENST00000284395.5_Silent_p.L733L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGCCAACCTCCAGTTCTGGC	0.627																																																	0													99	111	107					15																	101565148		2054	4180	6234	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2208C>G	15.37:g.101565148C>G				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.L736	ENST00000388948.3	37	c.2208	CCDS42086.1	15																																																																																			LRRK1	-	pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase		0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101565148	1	no_errors	ENST00000388948	ensembl	human	known	70_37	silent	SNP	0.966	G	G	101565148	C	G	101565148	2	3	115	1	0	0	0	0	0	0	0	1	9055	842	30	1		1	LRRK1	15	101565148	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	14867474	101565148	966244	95	17184										
OR4F6	390648	genome.wustl.edu	37	chr15	102346600	102346600	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tttattttggtgactgttcaGaaaaaatcttcaggtggtat	9	4	3	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr15:102346600G>C	ENST00000328882.4	+	1	699	c.678G>C	c.(676-678)caG>caC	p.Q226H		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGACTGTTCAGAAAAAATCTT	0.348																																																	0													135	136	136					15																	102346600		2202	4300	6502	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.678G>C	15.37:g.102346600G>C	ENSP00000327525:p.Gln226His		B9EH28|Q6IF95	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q226H	ENST00000328882.4	37	c.678	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	1.010	-0.688042	0.03328	.	.	ENSG00000184140	ENST00000328882	T	0.00091	8.74	4.78	-0.452	0.12205	GPCR, rhodopsin-like superfamily (1);	0.553754	0.16499	N	0.211730	T	0.00073	0.0002	N	0.10972	0.075	0.09310	N	1	B	0.15719	0.014	B	0.23852	0.049	T	0.10268	-1.0637	10	0.44086	T	0.13	.	5.4946	0.16795	0.3419:0.1427:0.5154:0.0	.	226	Q8NGB9	OR4F6_HUMAN	H	226	ENSP00000327525:Q226H	ENSP00000327525:Q226H	Q	+	3	2	OR4F6	100164123	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	-0.071000	0.11505	0.042000	0.15717	0.591000	0.81541	CAG	OR4F6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.348	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	HGNC	protein_coding	OTTHUMT00000417593.1	G			102346600	1	no_errors	ENST00000328882	ensembl	human	known	70_37	missense	SNP	0.001	C	C	102346600	G	C	102346600	3	2	115	1	0	0	0	0	1	0	0	0	11090	933	33	1	680	1	OR4F6	15	102346600	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	781452	102346600	184792	96	17185										
ZNF597	146434	genome.wustl.edu	37	chr16	3490819	3490819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tgccttacccatcaaagccgCatcctccaaagactcttttg	5	15	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr16:3490819C>A	ENST00000301744.4	-	3	383	c.148G>T	c.(148-150)Gcg>Tcg	p.A50S	NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000424546.2_5'Flank|NAA60_ENST00000608722.1_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	50	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATCAAAGCCGCATCCTCCAAA	0.468																																																	0													112	94	100					16																	3490819		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.148G>T	16.37:g.3490819C>A	ENSP00000301744:p.Ala50Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A50S	ENST00000301744.4	37	c.148	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	C	3.730	-0.055686	0.07362	.	.	ENSG00000167981	ENST00000301744	T	0.01705	4.68	4.07	0.672	0.17935	Krueppel-associated box (3);	0.855079	0.09759	N	0.759494	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.19666	0.026	T	0.48456	-0.9034	10	0.87932	D	0	2.6413	5.6344	0.17528	0.0:0.557:0.0:0.443	.	50	Q96LX8	ZN597_HUMAN	S	50	ENSP00000301744:A50S	ENSP00000301744:A50S	A	-	1	0	ZNF597	3430820	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.323000	0.19593	0.064000	0.16427	-0.251000	0.11542	GCG	ZNF597	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box		0.468	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	C	NM_152457		3490819	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.000	A	A	3490819	C	A	3490819	3	1	115	1	0	0	0	0	1	0	0	0	18057	710	25	4	1134	4	ZNF597	16	3490819	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		3490819	86863934	97	17186										
ERCC4	2072	genome.wustl.edu	37	chr16	14026059	14026059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctcgatgtttataaatgctcGagcaagggtttatcatcttc	8	8	2	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr16:14026059G>A	ENST00000311895.7	+	6	1028	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Missense_Mutation_p.R340Q	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	340	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATAAATGCTCGAGCAAGGGTT	0.333			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													115	113	114					16																	14026059		2196	4300	6496	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1019G>A	16.37:g.14026059G>A	ENSP00000310520:p.Arg340Gln		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.R340Q	ENST00000311895.7	37	c.1019	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.321687	0.95682	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.67523	-0.27	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61940	0.896;0.895	D	0.83975	0.0329	10	0.72032	D	0.01	-10.2736	18.5322	0.90996	0.0:0.0:1.0:0.0	.	340;340	A5PKV6;Q92889	.;XPF_HUMAN	Q	340;329;329	ENSP00000310520:R340Q	ENSP00000310520:R340Q	R	+	2	0	ERCC4	13933560	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.683000	0.91414	0.655000	0.94253	CGA	ERCC4	-	tigrfam_Rad1		0.333	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236		14026059	1	no_errors	ENST00000311895	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14026059	G	A	14026059	3	1	115	1	0	0	0	0	1	0	0	0	5227	1058	37	1	1041	1	ERCC4	16	14026059	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	10535240	14026059	76328694	98	17187										
ACSM1	116285	genome.wustl.edu	37	chr16	20682921	20682921	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	atcttggggaagcctgtggtCccactggtgaagaagatgac	14	8	1	4			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr16:20682921C>G	ENST00000307493.4	-	4	751	c.684G>C	c.(682-684)ggG>ggC	p.G228G	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.G228G	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	228					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCCTGTGGTCCCACTGGTGA	0.517																																																	0													126	104	112					16																	20682921		2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.684G>C	16.37:g.20682921C>G			Q08AH2|Q96A20	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G228	ENST00000307493.4	37	c.684	CCDS10587.1	16																																																																																			ACSM1	-	pfam_AMP-dep_Synth/Lig		0.517	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	C	NM_052956		20682921	-1	no_errors	ENST00000307493	ensembl	human	known	70_37	silent	SNP	0.997	G	G	20682921	C	G	20682921	2	3	115	1	0	0	0	0	0	0	0	1	182	842	30	1		1	ACSM1	16	20682921	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	6656862	20682921	69671832	99	17188										
TNRC6A	27327	genome.wustl.edu	37	chr16	24826503	24826503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gtttcaggctggaagagtctCcatttgttccctatgacttt	9	9	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr16:24826503C>T	ENST00000395799.3	+	19	4837	c.4708C>T	c.(4708-4710)Cca>Tca	p.P1570S	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.P1521S|TNRC6A_ENST00000432286.2_Missense_Mutation_p.P48S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1570					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGAAGAGTCTCCATTTGTTCC	0.433																																																	0													145	135	138					16																	24826503		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4708C>T	16.37:g.24826503C>T	ENSP00000379144:p.Pro1570Ser		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P1570S	ENST00000395799.3	37	c.4708	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.265644|2.265644	0.40095|0.40095	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.11604|.	2.77;2.76|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57504|0.57504	0.2058|0.2058	L|L	0.28344|0.28344	0.845|0.845	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.42203|.	0.291;0.008;0.773;0.615|.	B;B;B;B|.	0.38428|.	0.104;0.013;0.273;0.158|.	T|T	0.60388|0.60388	-0.7273|-0.7273	10|6	0.10902|0.87932	T|D	0.67|0	-8.2019|-8.2019	14.4704|14.4704	0.67512|0.67512	0.0:0.9301:0.0:0.0699|0.0:0.9301:0.0:0.0699	.|.	237;709;1521;1570|.	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7|.	.;.;.;TNR6A_HUMAN|.	S|F	1521;1570;48|460	ENSP00000326900:P1521S;ENSP00000379144:P1570S|.	ENSP00000326900:P1521S|ENSP00000404278:S460F	P|S	+|+	1|2	0|0	TNRC6A|TNRC6A	24734004|24734004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.020000|5.020000	0.64066|0.64066	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CCA|TCC	TNRC6A	-	NULL		0.433	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24826503	1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24826503	C	T	24826503	3	4	115	1	0	0	0	0	1	0	0	0	16370	855	30	1	4782	1	TNRC6A	16	24826503	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	4143582	24826503	65528250	100	17189										
EIF4A1	1973	genome.wustl.edu	37	chr17	7479841	7479841	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cacctgcctctctctgctcaGatacagaaggtggtcatggc	10	13	4	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:7479841G>T	ENST00000293831.8	+	5	361		c.e5-1		EIF4A1_ENST00000577269.1_Splice_Site|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Splice_Site|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000380498.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.?(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCTCTGCTCAGATACAGAAGG	0.517																																					Melanoma(120;278 1668 15796 27423 46368)												1	Unknown(1)	upper_aerodigestive_tract(1)											68	58	61					17																	7479841		2203	4300	6503	SO:0001630	splice_region_variant	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.346-1G>T	17.37:g.7479841G>T			B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Splice_Site	SNP	-	e5-1	ENST00000293831.8	37	c.346-1	CCDS11113.1	17	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167509	0.57476	.	.	ENSG00000161960	ENST00000293831	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0637	0.80856	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF4A1	7420565	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.324000	0.79115	2.670000	0.90874	0.655000	0.94253	.	EIF4A1	-	-		0.517	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	G	NM_001416	Intron	7479841	1	no_errors	ENST00000293831	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	7479841	G	T	7479841	5	4	115	1	0	0	0	0	0	0	1	0	5036	956	33	3	363	3	EIF4A1	17	7479841	Splice_Site	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		7479841	73715369	101	17190										
HNF1B	6928	genome.wustl.edu	37	chr17	36093702	36093702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggctcagagcaggcatcatcGgactgcccaggcccatggct	13	14	2	1	rs148713761		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:36093702G>A	ENST00000225893.4	-	3	1018	c.657C>T	c.(655-657)tcC>tcT	p.S219S	HNF1B_ENST00000561193.1_Silent_p.S193S|HNF1B_ENST00000427275.2_Silent_p.S193S|HNF1B_ENST00000560016.1_Silent_p.S219S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	219					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AGGCATCATCGGACTGCCCAG	0.552																																					Colon(71;102 1179 9001 27917 43397)												0								G	,	0,4406		0,0,2203	81	73	76		657,579	2.9	1	17	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HNF1B	NM_000458.2,NM_001165923.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	219/558,193/532	36093702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.657C>T	17.37:g.36093702G>A			B4DKM3|E0YMJ9	Silent	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.S219	ENST00000225893.4	37	c.657	CCDS11324.1	17																																																																																			HNF1B	-	NULL		0.552	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	G	NM_000458		36093702	-1	no_errors	ENST00000225893	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36093702	G	A	36093702	2	1	115	1	0	0	0	0	0	0	0	1	7272	1103	39	2		2	HNF1B	17	36093702	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	28613861	36093702	45101508	102	17191										
KRTAP4-8	728224	genome.wustl.edu	37	chr17	39253891	39253891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cacagactggacgcaggcagCagcaggggcggcagcagctg	17	12	0	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:39253891C>T	ENST00000333822.4	-	1	502	c.446G>A	c.(445-447)tGc>tAc	p.C149Y		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	149	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ACGCAGgcagcagcaggggcg	0.677																																																	0													17	20	19					17																	39253891		692	1587	2279	SO:0001583	missense	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.446G>A	17.37:g.39253891C>T	ENSP00000328444:p.Cys149Tyr		A8MSH3	Missense_Mutation	SNP	pfam_Keratin-assoc	p.C149Y	ENST00000333822.4	37	c.446	CCDS45674.1	17	.	.	.	.	.	.	.	.	.	.	.	13.51	2.257342	0.39896	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02197	4.4	3.3	3.3	0.37823	.	0.000000	0.52532	U	0.000062	T	0.09774	0.0240	M	0.89030	3	0.34780	D	0.734668	P	0.46395	0.877	P	0.51516	0.672	T	0.14783	-1.0460	10	0.87932	D	0	.	12.4883	0.55885	0.0:1.0:0.0:0.0	.	149	Q9BYQ9	KRA48_HUMAN	Y	149;119	ENSP00000328444:C149Y	ENSP00000414561:C119Y	C	-	2	0	KRTAP4-8	36507417	1.000000	0.71417	0.135000	0.22099	0.922000	0.55478	2.256000	0.43231	1.558000	0.49541	0.449000	0.29647	TGC	KRTAP4-8	-	NULL		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	HGNC	protein_coding	OTTHUMT00000257684.1	C	NM_031960		39253891	-1	no_errors	ENST00000333822	ensembl	human	known	70_37	missense	SNP	0.977	T	T	39253891	C	T	39253891	3	4	115	1	0	0	0	0	1	0	0	0	8576	710	25	4	115	4	KRTAP4-8	17	39253891	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	3160189	39253891	41941319	103	17192										
TUBG1	7283	genome.wustl.edu	37	chr17	40765904	40765904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	agccagcaccaccaccctgcGctaccctggctacatgaaca	7	18	0	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:40765904G>A	ENST00000251413.3	+	8	793	c.731G>A	c.(730-732)cGc>cAc	p.R244H		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	244					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACCACCCTGCGCTACCCTGGC	0.607																																					Colon(20;114 698 11420 22864)												0													244	184	204					17																	40765904		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.731G>A	17.37:g.40765904G>A	ENSP00000251413:p.Arg244His		Q53X79|Q9BW59	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.R244H	ENST00000251413.3	37	c.731	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724829	0.89298	.	.	ENSG00000131462	ENST00000251413	T	0.74526	-0.85	4.41	4.41	0.53225	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.93443	0.6795	10	0.87932	D	0	-9.1978	16.2703	0.82612	0.0:0.0:1.0:0.0	.	244	P23258	TBG1_HUMAN	H	244	ENSP00000251413:R244H	ENSP00000251413:R244H	R	+	2	0	TUBG1	38019430	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.372000	0.97165	2.321000	0.78463	0.650000	0.86243	CGC	TUBG1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase		0.607	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	G	NM_001070		40765904	1	no_errors	ENST00000251413	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40765904	G	A	40765904	3	1	115	1	0	0	0	0	1	0	0	0	16795	1087	38	2	761	2	TUBG1	17	40765904	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	1512013	40765904	40429306	104	17193										
C17orf57	124989	genome.wustl.edu	37	chr17	45405719	45405719	+	5'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aatttacctctaaacagaaaGatggaaactaaagtacattt	5	6	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:45405719G>C	ENST00000331493.2	+	0	411				ITGB3_ENST00000560629.1_Missense_Mutation_p.R784T|EFCAB13_ENST00000520802.1_3'UTR|ITGB3_ENST00000435993.2_Missense_Mutation_p.D749H|EFCAB13_ENST00000517484.1_5'UTR	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TAAACAGAAAGATGGAAACTA	0.303																																																	0													96	100	99					17																	45405719		2203	4298	6501	SO:0001623	5_prime_UTR_variant	3690			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.-1G>C	17.37:g.45405719G>C			G3V128|Q49AG9	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_EGF_extracell,pfam_Integrin_bsu_cyt,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.D749H	ENST00000331493.2	37	c.2245	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	8.333	0.827028	0.16749	.	.	ENSG00000178852	ENST00000435993	D	0.90504	-2.68	3.84	-0.565	0.11771	.	.	.	.	.	D	0.90317	0.6971	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86236	0.1640	6	0.62326	D	0.03	.	6.383	0.21546	0.5046:0.0:0.4954:0.0	.	.	.	.	H	749	ENSP00000407801:D749H	ENSP00000407801:D749H	D	+	1	0	C17orf57	42760718	0.994000	0.37717	0.990000	0.47175	0.959000	0.62525	-0.073000	0.11468	-0.061000	0.13110	-0.137000	0.14449	GAT	ITGB3	-	NULL		0.303	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000380147.4	G	NM_152347		45405719	1	no_errors	ENST00000435993	ensembl	human	known	70_37	missense	SNP	0.992	C	C	45405719	G	C	45405719	1	2	115	0	1	0	0	0	0	0	0	0	1869	957	33	1		1	C17orf57	17	45405719	5'UTR	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	4639815	45405719	35789491	105	17194										
ITGB4	3691	genome.wustl.edu	37	chr17	73726984	73726984	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cacctatttccctgtctcctCactgggggtgctgcaggagg	12	13	2	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:73726984C>G	ENST00000200181.3	+	9	1218	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	ITGB4_ENST00000339591.3_Nonsense_Mutation_p.S344*|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.S344*|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.S344*|ITGB4_ENST00000449880.2_Nonsense_Mutation_p.S344*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	344					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGTCTCCTCACTGGGGGTG	0.567																																																	0													128	131	130					17																	73726984		2203	4300	6503	SO:0001587	stop_gained	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1031C>G	17.37:g.73726984C>G	ENSP00000200181:p.Ser344*		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Nonsense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.S344*	ENST00000200181.3	37	c.1031	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.148482	0.98678	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	5.42	5.42	0.78866	.	0.147328	0.43579	D	0.000545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3672	0.55234	0.2845:0.7155:0.0:0.0	.	.	.	.	X	260;344;344;344	.	ENSP00000200181:S344X	S	+	2	0	ITGB4	71238579	1.000000	0.71417	0.952000	0.39060	0.859000	0.49053	6.064000	0.71169	2.545000	0.85829	0.557000	0.71058	TCA	ITGB4	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu		0.567	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	C			73726984	1	no_errors	ENST00000200181	ensembl	human	known	70_37	nonsense	SNP	0.994	G	G	73726984	C	G	73726984	4	3	115	1	0	0	0	0	0	1	0	0	7917	838	29	1	1061	1	ITGB4	17	73726984	Nonsense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	28321265	73726984	7468226	106	17195										
DNAH17	8632	genome.wustl.edu	37	chr17	76488833	76488833	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aggttctgataggtcttgttGagggatttgaggacctggcg	16	5	2	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr17:76488833G>A	ENST00000585328.1	-	42	6532	c.6408C>T	c.(6406-6408)ctC>ctT	p.L2136L	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.L2127L|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2127	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			AGGTCTTGTTGAGGGATTTGA	0.602																																																	0													48	51	50					17																	76488833		1953	4145	6098	SO:0001819	synonymous_variant	8632			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.6408C>T	17.37:g.76488833G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L2127	ENST00000585328.1	37	c.6381		17																																																																																			DNAH17	-	pfam_ATPase_dyneun-rel_AAA		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76488833	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.997	A	A	76488833	G	A	76488833	2	1	115	1	0	0	0	0	0	0	0	1	4611	1277	45	1		1	DNAH17	17	76488833	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	2761849	76488833	4706377	107	17196										
LMAN1	3998	genome.wustl.edu	37	chr18	57020489	57020489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggacaggatagggtttgttgCggaagtccctctggcaactt	14	8	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr18:57020489C>G	ENST00000251047.5	-	5	1301	c.584G>C	c.(583-585)cGc>cCc	p.R195P	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	195	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGGTTTGTTGCGGAAGTCCCT	0.408																																																	0													170	157	162					18																	57020489		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.584G>C	18.37:g.57020489C>G	ENSP00000251047:p.Arg195Pro		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily	p.R195P	ENST00000251047.5	37	c.584	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392250	0.83011	.	.	ENSG00000074695	ENST00000251047	T	0.69806	-0.43	6.01	5.12	0.69794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.049999	0.85682	D	0.000000	D	0.86802	0.6020	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90731	0.4642	10	0.87932	D	0	-11.848	16.0534	0.80777	0.1353:0.8647:0.0:0.0	.	195;195	B4DVV0;P49257	.;LMAN1_HUMAN	P	195	ENSP00000251047:R195P	ENSP00000251047:R195P	R	-	2	0	LMAN1	55171469	1.000000	0.71417	0.859000	0.33776	0.809000	0.45718	7.313000	0.78978	1.483000	0.48342	0.655000	0.94253	CGC	LMAN1	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.408	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	C	NM_005570		57020489	-1	no_errors	ENST00000251047	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57020489	C	G	57020489	3	3	115	1	0	0	0	0	1	0	0	0	8857	768	27	2	984	2	LMAN1	18	57020489	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		57020489	21056759	108	17197										
DSEL	92126	genome.wustl.edu	37	chr18	65180658	65180658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tcagcaggtggctgtggtgtGagctggggatcataccagat	16	7	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr18:65180658G>A	ENST00000310045.7	-	2	2691	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	396					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCTGTGGTGTGAGCTGGGGAT	0.478																																																	0													107	86	93					18																	65180658		2203	4300	6503	SO:0001819	synonymous_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1218C>T	18.37:g.65180658G>A			Q17RH1|Q6P5Z3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.L406	ENST00000310045.7	37	c.1218	CCDS11995.1	18																																																																																			DSEL	-	NULL		0.478	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	G	NM_032160		65180658	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	silent	SNP	0.610	A	A	65180658	G	A	65180658	2	1	115	1	0	0	0	0	0	0	0	1	4785	1277	45	1		1	DSEL	18	65180658	Silent	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	8160169	65180658	12896590	109	17198										
REXO1	57455	genome.wustl.edu	37	chr19	1826912	1826912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gcctctgtcctccgtcttgaCgctggtggactcgttgaaga	12	12	2	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr19:1826912C>T	ENST00000170168.4	-	2	1970	c.1876G>A	c.(1876-1878)Gtc>Atc	p.V626I	CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	626						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGTCTTGACGCTGGTGGAC	0.692																																																	0													16	12	13					19																	1826912		2195	4292	6487	SO:0001583	missense	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1876G>A	19.37:g.1826912C>T	ENSP00000170168:p.Val626Ile		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.V626I	ENST00000170168.4	37	c.1876	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029403	0.93518	.	.	ENSG00000079313	ENST00000170168	T	0.26810	1.71	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000001	T	0.50120	0.1597	M	0.73598	2.24	0.58432	D	0.99999	D	0.76494	0.999	D	0.72982	0.979	T	0.52946	-0.8507	10	0.44086	T	0.13	-30.4343	15.662	0.77193	0.0:1.0:0.0:0.0	.	626	Q8N1G1	REXO1_HUMAN	I	626	ENSP00000170168:V626I	ENSP00000170168:V626I	V	-	1	0	REXO1	1777912	1.000000	0.71417	0.944000	0.38274	0.844000	0.47949	7.078000	0.76821	1.926000	0.55796	0.455000	0.32223	GTC	REXO1	-	NULL		0.692	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	C	NM_020695		1826912	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	missense	SNP	0.998	T	T	1826912	C	T	1826912	3	4	115	1	0	0	0	0	1	0	0	0	13271	536	19	2	1849	2	REXO1	19	1826912	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09		1826912	57302071	110	17199										
TRMT1	55621	genome.wustl.edu	37	chr19	13227106	13227106	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggcccggtgccgttctccatCgctgctgtattcggcagccc	12	16	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr19:13227106C>T	ENST00000592062.1	-	3	678	c.108G>A	c.(106-108)gcG>gcA	p.A36A	TRMT1_ENST00000221504.8_Silent_p.A36A|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000437766.1_Silent_p.A36A|TRMT1_ENST00000357720.4_Silent_p.A36A|NACC1_ENST00000292431.4_5'Flank			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	36							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGTTCTCCATCGCTGCTGTAT	0.612																																																	0													70	71	71					19																	13227106		2203	4300	6503	SO:0001819	synonymous_variant	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.108G>A	19.37:g.13227106C>T			O76103|Q548Y5|Q8WVA6	Silent	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.A36	ENST00000592062.1	37	c.108	CCDS12293.1	19																																																																																			TRMT1	-	NULL		0.612	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	C	NM_017722		13227106	-1	no_errors	ENST00000357720	ensembl	human	known	70_37	silent	SNP	0.000	T	T	13227106	C	T	13227106	2	4	115	1	0	0	0	0	0	0	0	1	16592	871	31	1		1	TRMT1	19	13227106	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	11400194	13227106	45901877	111	17200										
FCGBP	8857	genome.wustl.edu	37	chr19	40366170	40366170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	aagcagccctggaagtactgCgcgggcggcacaaggccgtg	16	12	0	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr19:40366170C>T	ENST00000221347.6	-	30	14071	c.14064G>A	c.(14062-14064)gcG>gcA	p.A4688A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4688						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAAGTACTGCGCGGGCGGCA	0.706																																																	0													16	24	21					19																	40366170		2194	4295	6489	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14064G>A	19.37:g.40366170C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A4688	ENST00000221347.6	37	c.14064	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40366170	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.000	T	T	40366170	C	T	40366170	2	4	115	1	0	0	0	0	0	0	0	1	5796	755	27	2		2	FCGBP	19	40366170	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	27139064	40366170	18762813	112	17201										
ZNF677	342926	genome.wustl.edu	37	chr19	53741496	53741496	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	attccttataaatggcttgtCatggatgaaatactggtgtg	10	5	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr19:53741496C>G	ENST00000598513.1	-	5	634	c.484G>C	c.(484-486)Gac>Cac	p.D162H	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.D162H	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AATGGCTTGTCATGGATGAAA	0.308																																																	0													100	98	99					19																	53741496		2203	4297	6500	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.484G>C	19.37:g.53741496C>G	ENSP00000469391:p.Asp162His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D162H	ENST00000598513.1	37	c.484	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	C	8.925	0.962124	0.18583	.	.	ENSG00000197928	ENST00000333952	T	0.07216	3.21	2.6	1.52	0.23074	.	1.627630	0.04015	N	0.298893	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.36432	-0.9748	10	0.72032	D	0.01	.	5.7447	0.18114	0.0:0.844:0.0:0.156	.	162	Q86XU0	ZN677_HUMAN	H	162	ENSP00000334394:D162H	ENSP00000334394:D162H	D	-	1	0	ZNF677	58433308	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.226000	0.17776	0.627000	0.30340	0.655000	0.94253	GAC	ZNF677	-	NULL		0.308	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	C	NM_182609		53741496	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.002	G	G	53741496	C	G	53741496	3	3	115	1	0	0	0	0	1	0	0	0	18114	826	29	1	1274	1	ZNF677	19	53741496	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	13375326	53741496	5387487	113	17202										
FAM113A	64773	genome.wustl.edu	37	chr20	2816721	2816721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cgagaagtcctccactggatTatagttgaagaattcatggg	11	7	1	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr20:2816721T>C	ENST00000360652.2	-	7	1583	c.1081A>G	c.(1081-1083)Aat>Gat	p.N361D	PCED1A_ENST00000356872.3_Missense_Mutation_p.N310D	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	361																	TCCACTGGATTATAGTTGAAG	0.592																																																	0													21	22	22					20																	2816721		2182	4267	6449	SO:0001583	missense	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1081A>G	20.37:g.2816721T>C	ENSP00000353868:p.Asn361Asp		Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.N361D	ENST00000360652.2	37	c.1081	CCDS13035.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.947|7.947	0.744072|0.744072	0.15710|0.15710	.|.	.|.	ENSG00000132635|ENSG00000132635	ENST00000380531|ENST00000356872;ENST00000360652	.|T;T	.|0.44482	.|0.92;0.93	3.77|3.77	2.66|2.66	0.31614|0.31614	.|.	.|0.586961	.|0.17129	.|N	.|0.185905	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.30741	.|0.135;0.189;0.293;0.189	.|B;B;B;B	.|0.25291	.|0.059;0.024;0.039;0.024	T|T	0.12682|0.12682	-1.0538|-1.0538	6|10	0.72032|0.39692	D|T	0.01|0.17	-0.2378|-0.2378	5.7939|5.7939	0.18375|0.18375	0.0:0.1217:0.0:0.8783|0.0:0.1217:0.0:0.8783	.|.	.|310;357;208;361	.|Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.|.;.;.;F113A_HUMAN	M|D	143|310;361	.|ENSP00000349334:N310D;ENSP00000353868:N361D	ENSP00000369903:I143M|ENSP00000349334:N310D	I|N	-|-	3|1	3|0	FAM113A|FAM113A	2764721|2764721	0.116000|0.116000	0.22171|0.22171	0.017000|0.017000	0.16124|0.16124	0.317000|0.317000	0.28152|0.28152	1.075000|1.075000	0.30716|0.30716	0.803000|0.803000	0.34113|0.34113	0.454000|0.454000	0.30748|0.30748	ATA|AAT	PCED1A	-	NULL		0.592	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	T	NM_022760		2816721	-1	no_errors	ENST00000360652	ensembl	human	known	70_37	missense	SNP	0.027	C	C	2816721	T	C	2816721	3	2	115	1	0	0	0	0	1	0	0	0	5416	1754	61	5	291	5	FAM113A	20	2816721	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09		2816721	60208799	114	17203										
COL18A1	80781	genome.wustl.edu	37	chr21	46925806	46925806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gccaggtgcacgaggttcccGagggctggctcatcttcgtg	15	12	2	0	rs201265799		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr21:46925806G>A	ENST00000359759.4	+	36	4408	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	COL18A1_ENST00000400337.2_Missense_Mutation_p.E1048K|COL18A1_ENST00000355480.5_Missense_Mutation_p.E1228K|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1463	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGAGGTTCCCGAGGGCTGGCT	0.667																																																	0								G	LYS/GLU,LYS/GLU	3,4139		0,3,2068	72	84	80		3682,3142	3.9	0.9	21		80	0,8366		0,0,4183	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	56,56	0,3,6251	AA,AG,GG		0.0,0.0724,0.024	probably-damaging,probably-damaging	1228/1520,1048/1340	46925806	3,12505	2071	4183	6254	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4387G>A	21.37:g.46925806G>A	ENSP00000352798:p.Glu1463Lys		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.E1463K	ENST00000359759.4	37	c.4387		21	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459842	0.84317	7.24E-4	0.0	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	3.93	3.93	0.45458	Collagenase NC10/endostatin (1);	0.000000	0.85682	U	0.000000	T	0.66761	0.2822	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.977;0.974;0.974	T	0.68838	-0.5303	10	0.42905	T	0.14	.	13.0632	0.59018	0.0:0.0:1.0:0.0	.	1463;1045;1228;1048	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	K	1048;1048;1228;1463;1463;396	ENSP00000383191:E1048K;ENSP00000347665:E1228K;ENSP00000352798:E1463K;ENSP00000339118:E396K	ENSP00000339118:E396K	E	+	1	0	COL18A1	45750234	1.000000	0.71417	0.909000	0.35828	0.937000	0.57800	5.448000	0.66612	1.911000	0.55334	0.491000	0.48974	GAG	COL18A1	-	pfam_Collagenase_NC10/endostatin		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46925806	1	no_errors	ENST00000359759	ensembl	human	known	70_37	missense	SNP	0.982	A	A	46925806	G	A	46925806	3	1	115	1	0	0	0	0	1	0	0	0	3680	1059	37	1	4638	1	COL18A1	21	46925806	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		46925806	1204089	115	17204										
FTCD	10841	genome.wustl.edu	37	chr21	47558551	47558551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctcagaccctcctgtagggcCgccgtgcgcctgaaaggagc	13	15	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr21:47558551C>T	ENST00000291670.5	-	12	1357	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	FTCD_ENST00000397746.3_Silent_p.A438A|FTCD_ENST00000397743.1_Missense_Mutation_p.G424S|FTCD_ENST00000359679.2_Silent_p.A438A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Silent_p.A438A|FTCD_ENST00000355384.2_Missense_Mutation_p.G424S	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	438	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.		A -> E. {ECO:0000269|PubMed:12815595}.		cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CCTGTAGGGCCGCCGTGCGCC	0.687																																																	0													8	11	10					21																	47558551		2166	4241	6407	SO:0001819	synonymous_variant	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1314G>A	21.37:g.47558551C>T			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.G424S	ENST00000291670.5	37	c.1270	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	C	4.336	0.061856	0.08339	.	.	ENSG00000160282	ENST00000355384;ENST00000397743	D;D	0.82255	-1.59;-1.59	4.39	-8.77	0.00827	.	.	.	.	.	T	0.68072	0.2961	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51919	-0.8644	8	0.51188	T	0.08	0.9566	4.2873	0.10862	0.2132:0.2167:0.4239:0.1462	.	424	B7WPK3	.	S	424	ENSP00000347545:G424S;ENSP00000380851:G424S	ENSP00000347545:G424S	G	-	1	0	FTCD	46382979	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.257000	0.00537	-4.455000	0.00048	-2.418000	0.00219	GGC	FTCD	-	NULL		0.687	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	C	NM_006657		47558551	-1	no_errors	ENST00000355384	ensembl	human	known	70_37	missense	SNP	0.001	T	T	47558551	C	T	47558551	2	4	115	1	0	0	0	0	0	0	0	1	6099	639	23	2		2	FTCD	21	47558551	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	632745	47558551	571344	116	17205										
CACNA1I	8911	genome.wustl.edu	37	chr22	40061971	40061971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ctgcatggccgccaactaccGctgggtccatcacaaataca	8	15	1	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chr22:40061971G>A	ENST00000402142.3	+	23	4064	c.4064G>A	c.(4063-4065)cGc>cAc	p.R1355H	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1320H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1320H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1361H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1320H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1355H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1355					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCAACTACCGCTGGGTCCAT	0.597																																																	0													95	103	100					22																	40061971		2153	4234	6387	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4064G>A	22.37:g.40061971G>A	ENSP00000385019:p.Arg1355His		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1361H	ENST00000402142.3	37	c.4082	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977340	0.74360	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	4.3	4.3	0.51218	Ion transport (1);	0.214888	0.41396	D	0.000900	D	0.98273	0.9428	M	0.76433	2.335	0.28752	N	0.901387	D;D;D;D	0.89917	0.983;0.996;0.997;1.0	P;P;P;D	0.71656	0.729;0.799;0.759;0.974	D	0.94969	0.8115	10	0.87932	D	0	.	5.6831	0.17786	0.2689:0.0:0.731:0.0	.	1320;1355;1320;1355	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	1355;1320;1355;1320;1361;1320	ENSP00000385019:R1355H;ENSP00000384093:R1320H;ENSP00000383887:R1355H;ENSP00000385680:R1320H;ENSP00000337829:R1361H;ENSP00000383028:R1320H	ENSP00000337829:R1361H	R	+	2	0	CACNA1I	38391917	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.386000	0.59620	1.915000	0.55452	0.462000	0.41574	CGC	CACNA1I	-	pfam_Ion_trans_dom		0.597	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	G	NM_001003406		40061971	1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40061971	G	A	40061971	3	1	115	1	0	0	0	0	1	0	0	0	2551	1087	38	2	4154	2	CACNA1I	22	40061971	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09		40061971	11242595	117	17206										
CLCN4	1183	genome.wustl.edu	37	chrX	10174519	10174520	+	Missense_Mutation	DNP	CG	CG	AC													0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gagccttgggaaggaagggcCgctagtgcacgtggcttgtt							TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:10174519_10174520CG>AC	ENST00000380833.4	+	7	1068_1069	c.677_678CG>AC	c.(676-678)cCG>cAC	p.P226H	CLCN4_ENST00000380829.1_Missense_Mutation_p.P226H|CLCN4_ENST00000421085.2_Missense_Mutation_p.P132H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	226					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGGAAGGGCCGCTAGTGCACG	0.559																																					Melanoma(74;1050 1296 1576 30544 38374)												0																																										SO:0001583	missense	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	Exception_encountered	X.37:g.10174519_10174520delinsAC	ENSP00000370213:p.Pro226His		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation|Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.P226Q|p.P226	ENST00000380833.4	37	c.677|c.678	CCDS14137.1	X																																																																																			CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.559	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	C|G			10174519|10174520	1	no_errors	ENST00000380833	ensembl	human	known	70_37	missense|silent	SNP	1.000|0.061	A|C	AC	10174520	CG	AC	10174519	3	1	115	1	0	0	0	0	1	0	0	0	3470	652	23	2	695	2	CLCN4	23	10174519	Missense_Mutation	DNP	CG	TCGA-EK-A2RO-01A-11D-A18J-09		10174519	145096041	118	17207										
ARHGAP6	395	genome.wustl.edu	37	chrX	11157357	11157357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ggccacatccagctcactctCgctgaggtcgtgggcgccgc	13	16	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:11157357C>T	ENST00000337414.4	-	13	3423	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E648K|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E648K|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	851					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCTCACTCTCGCTGAGGTCG	0.692																																																	0													11	10	11					X																	11157357		2174	4265	6439	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2551G>A	X.37:g.11157357C>T	ENSP00000338967:p.Glu851Lys		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E851K	ENST00000337414.4	37	c.2551	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669875	0.47677	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.26223	1.75;1.75;1.76	5.12	3.26	0.37387	.	0.229900	0.30036	N	0.010576	T	0.19604	0.0471	M	0.65975	2.015	0.09310	N	0.999999	P;B	0.46020	0.871;0.396	B;B	0.30316	0.114;0.062	T	0.17623	-1.0363	10	0.37606	T	0.19	.	8.3499	0.32297	0.0:0.6287:0.2909:0.0804	.	851;851	O43182;A8KAL3	RHG06_HUMAN;.	K	648;648;851	ENSP00000370112:E648K;ENSP00000302312:E648K;ENSP00000338967:E851K	ENSP00000302312:E648K	E	-	1	0	ARHGAP6	11067278	0.664000	0.27457	0.043000	0.18650	0.105000	0.19272	1.224000	0.32539	0.346000	0.23899	0.594000	0.82650	GAG	ARHGAP6	-	NULL		0.692	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11157357	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	0.088	T	T	11157357	C	T	11157357	3	4	115	1	0	0	0	0	1	0	0	0	887	893	31	1	377	1	ARHGAP6	23	11157357	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	982838	11157357	144113203	119	17208										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766066	27766066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	ccattgacctcagacaagacCggccagcttcaaaagttgtg	9	12	2	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:27766066C>T	ENST00000451261.2	+	5	1453	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	352										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CAGACAAGACCGGCCAGCTTC	0.468																																																	0													91	64	72					X																	27766066		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1054C>T	X.37:g.27766066C>T	ENSP00000462745:p.Arg352Trp		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R352W	ENST00000451261.2	37	c.1054	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.468	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27766066	1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	0.002	T	T	27766066	C	T	27766066	3	4	115	1	0	0	0	0	1	0	0	0	4283	643	23	2	1056	2	DCAF8L2	23	27766066	Missense_Mutation	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	16608709	27766066	127504494	120	17209										
CASK	8573	genome.wustl.edu	37	chrX	41416352	41416352	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tggaagtggaaggggaatctCtctgaaataagacacaaggt	13	5	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:41416352C>T	ENST00000378163.1	-	19	2213	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	CASK_ENST00000378158.1_Splice_Site_p.R580K|CASK_ENST00000378166.4_Splice_Site_p.R580K|CASK_ENST00000472704.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Splice_Site_p.R580K|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Splice_Site_p.R580K			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	580					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AGGGGAATCTCTCTGAAATAA	0.423																																					NSCLC(42;104 1086 3090 27189 35040)												0													146	107	120					X																	41416352		2203	4300	6503	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1738-1G>A	X.37:g.41416352C>T			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.R580K	ENST00000378163.1	37	c.1739		X	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364835	0.11296	.	.	ENSG00000147044	ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378168;ENST00000378158;ENST00000378166	T;T;T;T;T;T	0.66638	-0.2;-0.21;-0.2;0.95;-0.22;-0.2	5.24	5.24	0.73138	Src homology-3 domain (1);PDZ/DHR/GLGF (1);	0.000000	0.49916	D	0.000133	T	0.49236	0.1545	N	0.08118	0	0.50039	D	0.999841	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40813	-0.9543	10	0.33940	T	0.23	.	18.1202	0.89568	0.0:1.0:0.0:0.0	.	580;580	O14936-2;O14936	.;CSKP_HUMAN	K	580;580;580;47;580;580	ENSP00000322727:R580K;ENSP00000354641:R580K;ENSP00000367405:R580K;ENSP00000367410:R47K;ENSP00000367400:R580K;ENSP00000367408:R580K	ENSP00000322727:R580K	R	-	2	0	CASK	41301296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.551000	0.67274	2.302000	0.77476	0.600000	0.82982	AGA	CASK	-	superfamily_SH3_domain,superfamily_PDZ		0.423	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688	Missense_Mutation	41416352	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41416352	C	T	41416352	5	4	115	1	0	0	0	0	0	0	1	0	2670	927	32	1	1077	1	CASK	23	41416352	Splice_Site	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	13650286	41416352	113854208	121	17210										
KDM5C	8242	genome.wustl.edu	37	chrX	53253976	53253976	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tctgcgatgggcctgattttCgcgatgtagccaagagggtc	14	9	1	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:53253976C>G	ENST00000375401.3	-	1	628	c.96G>C	c.(94-96)gcG>gcC	p.A32A	KDM5C_ENST00000404049.3_Silent_p.A32A|KDM5C_ENST00000452825.3_Silent_p.A32A|KDM5C_ENST00000375383.3_Silent_p.A32A|KDM5C_ENST00000375379.3_Silent_p.A32A	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	32	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCTGATTTTCGCGATGTAGC	0.647			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													48	41	43					X																	53253976		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.96G>C	X.37:g.53253976C>G			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.A32	ENST00000375401.3	37	c.96	CCDS14351.1	X																																																																																			KDM5C	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.647	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	C	NM_004187		53253976	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	silent	SNP	0.997	G	G	53253976	C	G	53253976	2	3	115	1	0	0	0	0	0	0	0	1	8155	871	31	1		1	KDM5C	23	53253976	Silent	SNP	C	TCGA-EK-A2RO-01A-11D-A18J-09	11837624	53253976	102016584	122	17211										
ATP7A	538	genome.wustl.edu	37	chrX	77289250	77289250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	atattaaaaatgcatccctgGttcaaattgatgccagtaat	6	7	1	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:77289250G>T	ENST00000341514.6	+	17	3597	c.3442G>T	c.(3442-3444)Gtt>Ttt	p.V1148F	ATP7A_ENST00000350425.4_Missense_Mutation_p.V151F|ATP7A_ENST00000343533.5_Missense_Mutation_p.V1070F	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1148					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCATCCCTGGTTCAAATTGA	0.358																																																	0													128	118	121					X																	77289250		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3442G>T	X.37:g.77289250G>T	ENSP00000345728:p.Val1148Phe		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.V1148F	ENST00000341514.6	37	c.3442	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074612	0.36566	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97665	-4.09;-4.48;-4.09	5.16	2.36	0.29203	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.292367	0.32736	N	0.005704	D	0.92619	0.7655	N	0.22421	0.69	0.46798	D	0.999208	B	0.26195	0.144	B	0.31191	0.125	D	0.87603	0.2498	10	0.52906	T	0.07	0.0214	8.3868	0.32505	0.1539:0.1351:0.711:0.0	.	1148	Q04656	ATP7A_HUMAN	F	1070;151;1148	ENSP00000343026:V1070F;ENSP00000343678:V151F;ENSP00000345728:V1148F	ENSP00000345728:V1148F	V	+	1	0	ATP7A	77175906	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.041000	0.30291	0.477000	0.27464	-0.253000	0.11424	GTT	ATP7A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal		0.358	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	G	NM_000052		77289250	1	no_errors	ENST00000341514	ensembl	human	known	70_37	missense	SNP	0.992	T	T	77289250	G	T	77289250	3	4	115	1	0	0	0	0	1	0	0	0	1191	1261	44	4	3504	4	ATP7A	23	77289250	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	24035274	77289250	77981310	123	17212										
APOOL	139322	genome.wustl.edu	37	chrX	84329357	84329357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tcagtgcccttgccaacagaActcagctctgaagcaaagac	8	13	3	3			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:84329357A>G	ENST00000373173.2	+	8	765	c.678A>G	c.(676-678)gaA>gaG	p.E226E		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	226						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCCAACAGAACTCAGCTCTG	0.373																																																	0													101	91	95					X																	84329357		1854	4085	5939	SO:0001819	synonymous_variant	139322			AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"chromosome X open reading frame 33", "family with sequence similarity 121A"	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.678A>G	X.37:g.84329357A>G			Q3KNU7|Q5H9D1	Silent	SNP	pfam_Apolipoprotein_O	p.E226	ENST00000373173.2	37	c.678	CCDS48138.1	X																																																																																			APOOL	-	NULL		0.373	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOOL	HGNC	protein_coding	OTTHUMT00000057385.2	A	NM_198450		84329357	1	no_errors	ENST00000373173	ensembl	human	known	70_37	silent	SNP	0.114	G	G	84329357	A	G	84329357	2	3	115	1	0	0	0	0	0	0	0	1	814	40	2	5		5	APOOL	23	84329357	Silent	SNP	A	TCGA-EK-A2RO-01A-11D-A18J-09	7040107	84329357	70941203	124	17213										
ARMCX2	9823	genome.wustl.edu	37	chrX	100910679	100910679	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	tgacggtacataaccaatcaGaatttgttcactagttttat	6	7	2	2			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:100910679G>C	ENST00000328766.5	-	5	2349	c.1896C>G	c.(1894-1896)ttC>ttG	p.F632L	ARMCX2_ENST00000330154.2_Missense_Mutation_p.F632L|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.F632L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	632						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TAACCAATCAGAATTTGTTCA	0.348																																																	0													68	63	65					X																	100910679		2203	4300	6503	SO:0001583	missense	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1896C>G	X.37:g.100910679G>C	ENSP00000331662:p.Phe632Leu		O60267|Q5H9D9	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.F632L	ENST00000328766.5	37	c.1896	CCDS14490.1	X	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186389	0.21870	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.40476	1.03;1.03;1.03	3.99	3.99	0.46301	.	0.517042	0.19585	N	0.110754	T	0.31167	0.0788	N	0.04203	-0.255	0.31845	N	0.623025	P	0.52842	0.956	P	0.62184	0.899	T	0.09618	-1.0666	10	0.02654	T	1	.	10.4788	0.44680	0.0:0.0:1.0:0.0	.	632	Q7L311	ARMX2_HUMAN	L	632	ENSP00000331662:F632L;ENSP00000328631:F632L;ENSP00000349281:F632L	ENSP00000331662:F632L	F	-	3	2	ARMCX2	100797335	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.883000	0.39658	2.233000	0.73108	0.422000	0.28245	TTC	ARMCX2	-	NULL		0.348	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100910679	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100910679	G	C	100910679	3	2	115	1	0	0	0	0	1	0	0	0	961	933	33	1	6	1	ARMCX2	23	100910679	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	16581322	100910679	54359881	125	17214										
XPNPEP2	7512	genome.wustl.edu	37	chrX	128902410	128902410	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gccccagacaccgcctcctgGgcctctgtgttagtggtctc	11	16	2	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:128902410G>C	ENST00000371106.3	+	21	2166	c.1974G>C	c.(1972-1974)tgG>tgC	p.W658C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	658						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCGCCTCCTGGGCCTCTGTGT	0.617																																																	0													32	34	33					X																	128902410		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1974G>C	X.37:g.128902410G>C	ENSP00000360147:p.Trp658Cys		A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.W658C	ENST00000371106.3	37	c.1974	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	G	9.188	1.025306	0.19433	.	.	ENSG00000122121	ENST00000371106	T	0.42513	0.97	4.74	1.77	0.24775	.	0.891913	0.09610	N	0.778966	T	0.21881	0.0527	N	0.08118	0	0.09310	N	0.999998	P	0.36495	0.556	B	0.34038	0.174	T	0.12656	-1.0539	10	0.51188	T	0.08	-13.7933	7.7438	0.28856	0.0929:0.2993:0.6077:0.0	.	658	O43895	XPP2_HUMAN	C	658	ENSP00000360147:W658C	ENSP00000360147:W658C	W	+	3	0	XPNPEP2	128730091	0.064000	0.20934	0.001000	0.08648	0.011000	0.07611	0.893000	0.28336	0.410000	0.25675	-0.226000	0.12346	TGG	XPNPEP2	-	NULL		0.617	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	G	NM_003399		128902410	1	no_errors	ENST00000371106	ensembl	human	known	70_37	missense	SNP	0.002	C	C	128902410	G	C	128902410	3	2	115	1	0	0	0	0	1	0	0	0	17474	1241	43	4	2056	4	XPNPEP2	23	128902410	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	27991731	128902410	26368150	126	17215										
HS6ST2	90161	genome.wustl.edu	37	chrX	131762918	131762918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cctggcggttgttggctagaTtgtagggacagtccataaac	13	8	0	1			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:131762918T>C	ENST00000370836.2	-	4	1566	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	HS6ST2_ENST00000406696.3_Missense_Mutation_p.N110S|HS6ST2_ENST00000521489.1_Missense_Mutation_p.N424S|HS6ST2_ENST00000370833.2_Missense_Mutation_p.N278S	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	384					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTTGGCTAGATTGTAGGGACA	0.557																																																	0													72	69	70					X																	131762918		2067	4198	6265	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1151A>G	X.37:g.131762918T>C	ENSP00000359873:p.Asn384Ser		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.N424S	ENST00000370836.2	37	c.1271	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635152	0.67130	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833;ENST00000319809	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.90737	0.4647	10	0.87932	D	0	-9.1769	14.5446	0.68020	0.0:0.0:0.0:1.0	.	384;424;110	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	S	238;384;424;110;278;265	ENSP00000359874:N238S;ENSP00000359873:N384S;ENSP00000429473:N424S;ENSP00000384013:N110S;ENSP00000359870:N278S	ENSP00000324617:N265S	N	-	2	0	HS6ST2	131590599	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	8.040000	0.89188	2.034000	0.60081	0.486000	0.48141	AAT	HS6ST2	-	pfam_Sulfotransferase		0.557	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	T	NM_147174		131762918	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131762918	T	C	131762918	3	2	115	1	0	0	0	0	1	0	0	0	7391	1493	52	5	670	5	HS6ST2	23	131762918	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09	2860508	131762918	23507642	127	17216										
HS6ST2	90161	genome.wustl.edu	37	chrX	132090974	132090974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gccaggtttcccgcttacccGgccggtggcaagtgcatttc	12	14	0	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:132090974G>A	ENST00000370836.2	-	3	1224	c.809C>T	c.(808-810)cCg>cTg	p.P270L	HS6ST2_ENST00000521489.1_Missense_Mutation_p.P270L|HS6ST2_ENST00000370833.2_Missense_Mutation_p.P124L	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	270					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCGCTTACCCGGCCGGTGGCA	0.657																																																	0													24	28	26					X																	132090974		2175	4250	6425	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.809C>T	X.37:g.132090974G>A	ENSP00000359873:p.Pro270Leu		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.P270L	ENST00000370836.2	37	c.809	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	g	21.6	4.179224	0.78564	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833;ENST00000319809	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.79797	-0.1652	10	0.87932	D	0	-14.1497	15.0269	0.71677	0.0:0.0:1.0:0.0	.	270;270	Q96MM7;E9PDY5	H6ST2_HUMAN;.	L	124;270;270;124;111	ENSP00000359874:P124L;ENSP00000359873:P270L;ENSP00000429473:P270L;ENSP00000359870:P124L	ENSP00000324617:P111L	P	-	2	0	HS6ST2	131918656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.153000	0.94687	2.096000	0.63516	0.525000	0.51046	CCG	HS6ST2	-	pfam_Sulfotransferase		0.657	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	G	NM_147174		132090974	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132090974	G	A	132090974	3	1	115	1	0	0	0	0	1	0	0	0	7391	1116	39	2	1144	2	HS6ST2	23	132090974	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	328056	132090974	23179586	128	17217										
SLC9A6	10479	genome.wustl.edu	37	chrX	135106633	135106633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	cactgcaatgctgtcatgctTgcatatcaggtaagtactaa	8	9	2	0			TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:135106633T>C	ENST00000370698.3	+	12	1546	c.1511T>C	c.(1510-1512)tTg>tCg	p.L504S	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L536S|SLC9A6_ENST00000370701.1_Missense_Mutation_p.L484S	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	504					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTGTCATGCTTGCATATCAGG	0.378																																																	0													246	184	205					X																	135106633		2203	4300	6503	SO:0001583	missense	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1511T>C	X.37:g.135106633T>C	ENSP00000359732:p.Leu504Ser		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L536S	ENST00000370698.3	37	c.1607	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151914	0.57151	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.28454	1.61;1.61;1.61	5.36	5.36	0.76844	.	0.129498	0.53938	D	0.000059	T	0.52008	0.1708	M	0.71036	2.16	0.50467	D	0.999876	D;D	0.61697	0.99;0.966	D;P	0.64321	0.924;0.842	T	0.56559	-0.7959	10	0.87932	D	0	.	13.1562	0.59518	0.0:0.0:0.0:1.0	.	536;504	Q92581-2;Q92581	.;SL9A6_HUMAN	S	484;504;536	ENSP00000359735:L484S;ENSP00000359732:L504S;ENSP00000359729:L536S	ENSP00000359729:L536S	L	+	2	0	SLC9A6	134934299	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.127000	0.50484	1.784000	0.52394	0.412000	0.27726	TTG	SLC9A6	-	prints_Na/H_exchanger_6,tigrfam_NaH_exchanger		0.378	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	T	NM_006359		135106633	1	no_errors	ENST00000370695	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135106633	T	C	135106633	3	2	115	1	0	0	0	0	1	0	0	0	14748	1821	63	5	1653	5	SLC9A6	23	135106633	Missense_Mutation	SNP	T	TCGA-EK-A2RO-01A-11D-A18J-09	3015659	135106633	20163927	129	17218										
FHL1	2273	genome.wustl.edu	37	chrX	135291510	135291510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.269230769230769	35	8.33034422114621e-07	2.42925257731959	4.10133552014995	1.9576394395982	0.0678745301056232	0.193642041771925	21	gtttcccagcgccaacctccGgggcaggcatccgggtggag	15	14	0	0	rs199818971		TCGA-EK-A2RO-01A-11D-A18J-09	TCGA-EK-A2RO-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	24177940-975d-4c45-9c43-7862c8e036bb	c386a7c5-17a6-449d-9a30-7066e3c23e6b	g.chrX:135291510G>A	ENST00000345434.3	+	6	878	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000535737.1_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000394155.2_Missense_Mutation_p.R266Q			Q13642	FHL1_HUMAN	four and a half LIM domains 1	266					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCAACCTCCGGGGCAGGCAT	0.577											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	52	53					X																	135291510		1568	3582	5150	SO:0001583	missense	2273			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.797G>A	X.37:g.135291510G>A	ENSP00000071281:p.Arg266Gln	1617	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R266Q	ENST00000345434.3	37	c.797	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	g	14.14	2.447406	0.43429	.	.	ENSG00000022267	ENST00000394155;ENST00000345434	T;T	0.65178	-0.14;-0.14	4.41	3.46	0.39613	.	0.124211	0.56097	D	0.000034	T	0.40886	0.1135	N	0.08118	0	0.23886	N	0.99656	D	0.55385	0.971	P	0.45681	0.49	T	0.22347	-1.0219	10	0.34782	T	0.22	.	7.9992	0.30286	0.0:0.0:0.7575:0.2425	.	266	Q13642	FHL1_HUMAN	Q	266	ENSP00000377710:R266Q;ENSP00000071281:R266Q	ENSP00000071281:R266Q	R	+	2	0	FHL1	135119176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.521000	0.45563	2.187000	0.69744	0.421000	0.28195	CGG	FHL1	-	NULL		0.577	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	G	NM_001449		135291510	1	no_errors	ENST00000345434	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135291510	G	A	135291510	3	1	115	1	0	0	0	0	1	0	0	0	5896	1116	39	2	932	2	FHL1	23	135291510	Missense_Mutation	SNP	G	TCGA-EK-A2RO-01A-11D-A18J-09	184877	135291510	19979050	130	17219										
RNF207	388591	genome.wustl.edu	37	chr1	6270935	6270935	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcctcactgccacaggagctGatggagaggctgcagggcat	14	11	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:6270935G>C	ENST00000377939.4	+	11	1075	c.948G>C	c.(946-948)ctG>ctC	p.L316L	RNF207_ENST00000377948.2_Intron	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	316						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CACAGGAGCTGATGGAGAGGC	0.677																																																	0													15	20	18					1																	6270935		2107	4214	6321	SO:0001819	synonymous_variant	388591			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.948G>C	1.37:g.6270935G>C			A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.L316	ENST00000377939.4	37	c.948	CCDS59.2	1																																																																																			RNF207	-	NULL		0.677	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	G	NM_207396		6270935	1	no_errors	ENST00000377939	ensembl	human	novel	70_37	silent	SNP	1.000	C	C	6270935	G	C	6270935	2	2	116	1	0	0	0	0	0	0	0	1	13504	1277	45	1		1	RNF207	1	6270935	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		6270935	242979686	1	17220										
PTCHD2	57540	genome.wustl.edu	37	chr1	11579839	11579839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgagggtctgcagccagcctCcaacacgggcagccgcggcc	14	17	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:11579839C>T	ENST00000294484.6	+	9	2240	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S701F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	701					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGCCAGCCTCCAACACGGGC	0.652																																																	0													63	75	71					1																	11579839		2118	4235	6353	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2102C>T	1.37:g.11579839C>T	ENSP00000294484:p.Ser701Phe		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.S701F	ENST00000294484.6	37	c.2102	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	C	6.462	0.453444	0.12283	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89875	-2.58;-2.58	5.39	4.28	0.50868	.	0.439260	0.26275	N	0.025305	T	0.81508	0.4837	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.21546	0.035	T	0.73864	-0.3848	10	0.59425	D	0.04	-15.5395	12.9152	0.58203	0.0:0.8649:0.0:0.1351	.	701	Q9P2K9	PTHD2_HUMAN	F	701	ENSP00000294484:S701F;ENSP00000374226:S701F	ENSP00000294484:S701F	S	+	2	0	PTCHD2	11502426	0.001000	0.12720	0.010000	0.14722	0.017000	0.09413	1.364000	0.34171	2.498000	0.84270	0.561000	0.74099	TCC	PTCHD2	-	pfam_Patched		0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	C	XM_052561		11579839	1	no_errors	ENST00000294484	ensembl	human	known	70_37	missense	SNP	0.001	T	T	11579839	C	T	11579839	3	4	116	1	0	0	0	0	1	0	0	0	12760	855	30	1	2132	1	PTCHD2	1	11579839	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	5308904	11579839	237670782	2	17221										
SPEN	23013	genome.wustl.edu	37	chr1	16255901	16255902	+	Frame_Shift_Del	DEL	AG	AG	-													0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctaaaaaaatcaaactggacAgacttaatactgttgccagc							TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:16255901_16255902delAG	ENST00000375759.3	+	11	3370_3371	c.3166_3167delAG	c.(3166-3168)agafs	p.R1056fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1056					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAAACTGGACAGACTTAATACT	0.465																																																	0																																										SO:0001589	frameshift_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3166_3167delAG	1.37:g.16255901_16255902delAG	ENSP00000364912:p.Arg1056fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R1056fs	ENST00000375759.3	37	c.3166_3167	CCDS164.1	1																																																																																			SPEN	-	NULL		0.465	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	AG	NM_015001		16255902	1	no_errors	ENST00000375759	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	16255902	AG	-	16255901	7	5	116	1	0	1	0	1	0	0	0	0	15068	180	7	0	3208	0	SPEN	1	16255901	Frame_Shift_Del	DEL	AG	TCGA-EK-A3GJ-01A-21D-A20U-09	4676062	16255901	232994720	3	17222										
FAM131C	348487	genome.wustl.edu	37	chr1	16384941	16384941	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cagcccccacctcagttataGaacacctcgtcctcctccca	4	20	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:16384941G>C	ENST00000375662.4	-	7	1017	c.834C>G	c.(832-834)ttC>ttG	p.F278L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	278										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGTTATAGAACACCTCGT	0.701																																																	0													2	2	2					1																	16384941		881	1859	2740	SO:0001583	missense	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.834C>G	1.37:g.16384941G>C	ENSP00000364814:p.Phe278Leu		Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	superfamily_Chromodomain-like	p.F278L	ENST00000375662.4	37	c.834	CCDS41270.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511844	0.64522	.	.	ENSG00000185519	ENST00000375662	T	0.19669	2.13	4.4	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	M	0.64997	1.995	0.38083	D	0.936723	D	0.67145	0.996	D	0.77557	0.99	T	0.16958	-1.0385	10	0.87932	D	0	-3.1166	5.7664	0.18229	0.3242:0.0:0.6758:0.0	.	278	Q96AQ9	F131C_HUMAN	L	278	ENSP00000364814:F278L	ENSP00000364814:F278L	F	-	3	2	FAM131C	16257528	0.998000	0.40836	0.998000	0.56505	0.652000	0.38707	0.192000	0.17096	0.112000	0.17975	0.298000	0.19748	TTC	FAM131C	-	NULL		0.701	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1	G	NM_182623		16384941	-1	no_errors	ENST00000375662	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16384941	G	C	16384941	3	2	116	1	0	0	0	0	1	0	0	0	5456	933	33	1	12	1	FAM131C	1	16384941	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	129040	16384941	232865680	4	17223										
ZBTB40	9923	genome.wustl.edu	37	chr1	22850819	22850819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gcagtcagagaccaccttccCctgtgagctctgtggggaac	12	13	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:22850819C>T	ENST00000375647.4	+	17	3614	c.3407C>T	c.(3406-3408)cCc>cTc	p.P1136L	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P1024L|ZBTB40_ENST00000404138.1_Missense_Mutation_p.P1136L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1136					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACCACCTTCCCCTGTGAGCTC	0.567																																																	0													82	79	80					1																	22850819		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3407C>T	1.37:g.22850819C>T	ENSP00000364798:p.Pro1136Leu		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P1136L	ENST00000375647.4	37	c.3407	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869010	0.51588	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.77620	-1.11;-1.11;-1.11	5.71	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.267347	0.26983	N	0.021502	T	0.69214	0.3086	N	0.24115	0.695	0.38366	D	0.944745	P;P	0.43231	0.763;0.801	B;B	0.43889	0.308;0.435	T	0.75693	-0.3229	10	0.62326	D	0.03	-20.032	13.6742	0.62443	0.0:0.7243:0.2757:0.0	.	1024;1136	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	L	1136;1136;1024	ENSP00000384527:P1136L;ENSP00000364798:P1136L;ENSP00000363782:P1024L	ENSP00000363782:P1024L	P	+	2	0	ZBTB40	22723406	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.858000	0.39408	2.689000	0.91719	0.561000	0.74099	CCC	ZBTB40	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.567	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	C	NM_014870		22850819	1	no_errors	ENST00000375647	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22850819	C	T	22850819	3	4	116	1	0	0	0	0	1	0	0	0	17572	623	22	4	3469	4	ZBTB40	1	22850819	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	6465878	22850819	226399802	5	17224										
TMEM57	55219	genome.wustl.edu	37	chr1	25812143	25812143	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atgaagcaaaaagacaagcaGaatatcagccagttggagaa	10	6	1	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:25812143G>C	ENST00000374343.4	+	8	1532	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H	TMEM57_ENST00000399766.3_Missense_Mutation_p.Q224H|TMEM57_ENST00000399763.3_Missense_Mutation_p.Q93H	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	451					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACAAGCAGAATATCAGCC	0.358																																																	0													95	101	99					1																	25812143		2203	4300	6503	SO:0001583	missense	55219			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1353G>C	1.37:g.25812143G>C	ENSP00000363463:p.Gln451His		B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.Q451H	ENST00000374343.4	37	c.1353	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400469	0.62177	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;D;T	0.84370	2.58;-1.84;2.52	5.97	3.13	0.36017	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.70842	2.15	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.74348	0.904;0.969;0.983	D	0.88637	0.3173	10	0.72032	D	0.01	-13.528	9.4067	0.38466	0.3001:0.0:0.6999:0.0	.	93;224;451	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	H	224;93;451	ENSP00000382668:Q224H;ENSP00000382666:Q93H;ENSP00000363463:Q451H	ENSP00000363463:Q451H	Q	+	3	2	TMEM57	25684730	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.033000	0.49743	0.436000	0.26393	-0.150000	0.13652	CAG	TMEM57	-	pfam_Macoilin,superfamily_Prefoldin		0.358	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	G	NM_018202		25812143	1	no_errors	ENST00000374343	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25812143	G	C	25812143	3	2	116	1	0	0	0	0	1	0	0	0	16214	933	33	1	1383	1	TMEM57	1	25812143	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	2961324	25812143	223438478	6	17225										
UBXN11	91544	genome.wustl.edu	37	chr1	26620814	26620814	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cactgcaggccatagtcactGaggaaccgctgtgggaaaga	13	10	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:26620814G>A	ENST00000374222.1	-	9	905	c.441C>T	c.(439-441)ctC>ctT	p.L147L	UBXN11_ENST00000357089.4_Silent_p.L114L|UBXN11_ENST00000436301.2_Silent_p.L72L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374217.2_Silent_p.L114L|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374221.3_Silent_p.L147L|UBXN11_ENST00000374223.1_Intron			Q5T124	UBX11_HUMAN	UBX domain protein 11	147						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CATAGTCACTGAGGAACCGCT	0.622																																																	0													65	66	65					1																	26620814		2062	4205	6267	SO:0001819	synonymous_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.441C>T	1.37:g.26620814G>A			D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.L147	ENST00000374222.1	37	c.441	CCDS41288.1	1																																																																																			UBXN11	-	NULL		0.622	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	G	NM_145345		26620814	-1	no_errors	ENST00000374221	ensembl	human	known	70_37	silent	SNP	0.299	A	A	26620814	G	A	26620814	2	1	116	1	0	0	0	0	0	0	0	1	16944	1277	45	1		1	UBXN11	1	26620814	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	808671	26620814	222629807	7	17226										
C1orf172	126695	genome.wustl.edu	37	chr1	27278001	27278001	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caggcggccctcagcatcctGctcatccaggtggtagtcct	11	15	2	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:27278001G>A	ENST00000320567.5	-	2	959	c.871C>T	c.(871-873)Cag>Tag	p.Q291*		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		291					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCATCCTGCTCATCCAGG	0.582																																																	0													69	59	62					1																	27278001		2203	4300	6503	SO:0001587	stop_gained	126695																														ENST00000320567.5:c.871C>T	1.37:g.27278001G>A	ENSP00000319179:p.Gln291*		Q5QP32|Q8N0S7	Nonsense_Mutation	SNP	NULL	p.Q291*	ENST00000320567.5	37	c.871	CCDS293.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.429063	0.96131	.	.	ENSG00000175707	ENST00000320567	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.397	0.94611	0.0:0.0:1.0:0.0	.	.	.	.	X	291	.	ENSP00000319179:Q291X	Q	-	1	0	C1orf172	27150588	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.405000	0.97313	2.594000	0.87642	0.555000	0.69702	CAG	C1orf172	-	NULL		0.582	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	HGNC	protein_coding	OTTHUMT00000012340.1	G			27278001	-1	no_errors	ENST00000320567	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27278001	G	A	27278001	4	1	116	1	0	0	0	0	0	1	0	0	2018	1328	46	4	337	4	C1orf172	1	27278001	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	657187	27278001	221972620	8	17227										
C1orf172	126695	genome.wustl.edu	37	chr1	27278443	27278443	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgctggccatcccgccggctGgggggtgcacgatcagggct	17	14	1	0	rs535449942		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:27278443G>C	ENST00000320567.5	-	2	517	c.429C>G	c.(427-429)ccC>ccG	p.P143P		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		143					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGCCGGCTGGGGGGTGCAC	0.632													G|||	1	0.000199681	0	0	5008	,	,		16347	0		0.001	False		,,,				2504	0																0													24	27	26					1																	27278443		2203	4300	6503	SO:0001819	synonymous_variant	126695																														ENST00000320567.5:c.429C>G	1.37:g.27278443G>C			Q5QP32|Q8N0S7	Silent	SNP	NULL	p.P143	ENST00000320567.5	37	c.429	CCDS293.1	1	.	.	.	.	.	.	.	.	.	.	G	7.080	0.570052	0.13560	.	.	ENSG00000175707	ENST00000374109	.	.	.	4.84	-1.75	0.08031	.	0.116963	0.64402	D	0.000014	T	0.18002	0.0432	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	T	0.22243	-1.0222	6	0.06236	T	0.91	.	2.4145	0.04432	0.4097:0.1141:0.3592:0.1169	.	.	.	.	R	104	.	ENSP00000363223:P104R	P	-	2	0	C1orf172	27151030	0.992000	0.36948	0.578000	0.28575	0.977000	0.68977	0.403000	0.20982	-0.559000	0.06110	0.650000	0.86243	CCA	C1orf172	-	NULL		0.632	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	HGNC	protein_coding	OTTHUMT00000012340.1	G			27278443	-1	no_errors	ENST00000320567	ensembl	human	known	70_37	silent	SNP	0.427	C	C	27278443	G	C	27278443	2	2	116	1	0	0	0	0	0	0	0	1	2018	1335	47	4		4	C1orf172	1	27278443	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	442	27278443	221972178	9	17228										
EIF2B3	8891	genome.wustl.edu	37	chr1	45347294	45347294	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aagaactgacctaaggacttCagctcctttttctttagatc	6	10	2	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:45347294C>T	ENST00000360403.2	-	7	900	c.774G>A	c.(772-774)ctG>ctA	p.L258L	EIF2B3_ENST00000372183.3_Silent_p.L258L	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	258					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTAAGGACTTCAGCTCCTTTT	0.473																																					Colon(26;357 658 2581 11857 12657)												0													253	236	242					1																	45347294		2203	4300	6503	SO:0001819	synonymous_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.774G>A	1.37:g.45347294C>T			B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	pfam_NTP_transferase	p.L258	ENST00000360403.2	37	c.774	CCDS517.1	1																																																																																			EIF2B3	-	NULL		0.473	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	C	NM_020365		45347294	-1	no_errors	ENST00000360403	ensembl	human	known	70_37	silent	SNP	0.180	T	T	45347294	C	T	45347294	2	4	116	1	0	0	0	0	0	0	0	1	5012	813	29	1		1	EIF2B3	1	45347294	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	18068851	45347294	203903327	10	17229										
ECHDC2	55268	genome.wustl.edu	37	chr1	53387259	53387259	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gccagggcgcgcacttggatCtctgagcccccggccgcccc	13	19	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:53387259C>T	ENST00000371522.4	-	1	180	c.87G>A	c.(85-87)gaG>gaA	p.E29E	ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000358358.5_Silent_p.E29E	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	29					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GCACTTGGATCTCTGAGCCCC	0.741																																																	0													8	10	10					1																	53387259		2177	4274	6451	SO:0001819	synonymous_variant	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.87G>A	1.37:g.53387259C>T			D3DQ36|Q9NV38	Silent	SNP	pfam_Crotonase_core	p.E29	ENST00000371522.4	37	c.87	CCDS55600.1	1																																																																																			ECHDC2	-	NULL		0.741	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	C	NM_018281		53387259	-1	no_errors	ENST00000371522	ensembl	human	known	70_37	silent	SNP	0.997	T	T	53387259	C	T	53387259	2	4	116	1	0	0	0	0	0	0	0	1	4904	912	32	1		1	ECHDC2	1	53387259	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	8039965	53387259	195863362	11	17230										
WDR78	79819	genome.wustl.edu	37	chr1	67340544	67340544	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctcagtgtttctgtctctgtGagtattatctctatattctt	6	8	5	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:67340544G>C	ENST00000371026.3	-	5	775	c.720C>G	c.(718-720)ctC>ctG	p.L240L	WDR78_ENST00000371023.3_Silent_p.L240L|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Silent_p.L240L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	240					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGTCTCTGTGAGTATTATCT	0.353																																																	0													150	142	145					1																	67340544		2203	4300	6503	SO:0001819	synonymous_variant	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.720C>G	1.37:g.67340544G>C			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L240	ENST00000371026.3	37	c.720	CCDS635.1	1																																																																																			WDR78	-	NULL		0.353	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	G	NM_024763		67340544	-1	no_errors	ENST00000371026	ensembl	human	known	70_37	silent	SNP	0.965	C	C	67340544	G	C	67340544	2	2	116	1	0	0	0	0	0	0	0	1	17359	1277	45	1		1	WDR78	1	67340544	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	13953285	67340544	181910077	12	17231										
CRYZ	1429	genome.wustl.edu	37	chr1	75175917	75175917	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	taagctctagcaatttggcaTgctgctaatccaacctgaaa	7	10	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:75175917T>A	ENST00000340866.5	-	6	582	c.495A>T	c.(493-495)gcA>gcT	p.A165A	CRYZ_ENST00000370871.3_Silent_p.A165A|CRYZ_ENST00000370872.3_Silent_p.A28A|CRYZ_ENST00000492102.1_5'Flank|CRYZ_ENST00000417775.1_Silent_p.A165A	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	165					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	CAATTTGGCATGCTGCTAATC	0.363																																																	0													68	68	68					1																	75175917		2203	4300	6503	SO:0001819	synonymous_variant	1429				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.495A>T	1.37:g.75175917T>A			A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.A165	ENST00000340866.5	37	c.495	CCDS665.1	1																																																																																			CRYZ	-	pfam_ADH_C,smart_PKS_ER		0.363	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1	T			75175917	-1	no_errors	ENST00000340866	ensembl	human	known	70_37	silent	SNP	0.942	A	A	75175917	T	A	75175917	2	1	116	1	0	0	0	0	0	0	0	1	3927	1451	51	5		5	CRYZ	1	75175917	Silent	SNP	T	TCGA-EK-A3GJ-01A-21D-A20U-09	7835373	75175917	174074704	13	17232										
GIPC2	54810	genome.wustl.edu	37	chr1	78560749	78560749	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgtcactatgatgttgctaaGaagttaaaggaattaaaaaa	8	4	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:78560749G>A	ENST00000370759.3	+	3	733	c.540G>A	c.(538-540)aaG>aaA	p.K180K	RNA5SP22_ENST00000365393.1_RNA	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	180	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						ATGTTGCTAAGAAGTTAAAGG	0.383																																																	0													137	145	142					1																	78560749		2203	4300	6503	SO:0001819	synonymous_variant	54810			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.540G>A	1.37:g.78560749G>A			Q8IYD3|Q9NXS7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.K180	ENST00000370759.3	37	c.540	CCDS685.1	1																																																																																			GIPC2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ		0.383	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC2	HGNC	protein_coding	OTTHUMT00000098629.1	G	NM_017655		78560749	1	no_errors	ENST00000370759	ensembl	human	known	70_37	silent	SNP	0.999	A	A	78560749	G	A	78560749	2	1	116	1	0	0	0	0	0	0	0	1	6412	933	33	1		1	GIPC2	1	78560749	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3384832	78560749	170689872	14	17233										
LRIG2	9860	genome.wustl.edu	37	chr1	113657443	113657443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggcacttctttgatctgggtCattgttatttaccacatgag	9	8	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:113657443C>T	ENST00000361127.5	+	15	2673	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	825					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGATCTGGGTCATTGTTATTT	0.433																																																	0													196	139	158					1																	113657443		2203	4300	6503	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2475C>T	1.37:g.113657443C>T			Q9NSN2	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V825	ENST00000361127.5	37	c.2475	CCDS30808.1	1																																																																																			LRIG2	-	NULL		0.433	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	C	NM_014813		113657443	1	no_errors	ENST00000361127	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113657443	C	T	113657443	2	4	116	1	0	0	0	0	0	0	0	1	8968	813	29	1		1	LRIG2	1	113657443	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	35096694	113657443	135593178	15	17234										
PHTF1	10745	genome.wustl.edu	37	chr1	114254566	114254566	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctaaaatagaaattacctgaGagtttaggtgccttgaaagt	9	5	0	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:114254566G>C	ENST00000369604.1	-	9	1436	c.953C>G	c.(952-954)tCt>tGt	p.S318C	PHTF1_ENST00000369598.1_Missense_Mutation_p.S273C|PHTF1_ENST00000369600.1_Missense_Mutation_p.S265C|PHTF1_ENST00000357783.2_Missense_Mutation_p.S318C|PHTF1_ENST00000393357.2_Missense_Mutation_p.S318C|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.S265C			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	318					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTACCTGAGAGTTTAGGTG	0.333																																																	0													92	88	90					1																	114254566		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.953C>G	1.37:g.114254566G>C	ENSP00000358617:p.Ser318Cys		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.S318C	ENST00000369604.1	37	c.953	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.12|17.12	3.308318|3.308318	0.60305|0.60305	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000412670|ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.787886	.|0.12562	.|N	.|0.458055	T|T	0.37320|0.37320	0.0999|0.0999	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49862	.|0.621;0.911;0.929	.|B;P;P	.|0.45829	.|0.219;0.494;0.471	T|T	0.41645|0.41645	-0.9497|-0.9497	5|9	.|0.72032	.|D	.|0.01	-4.9482|-4.9482	17.0498|17.0498	0.86515|0.86515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|318;73;318	.|Q9UMS5;Q5TCR1;Q9UMS5-2	.|PHTF1_HUMAN;.;.	V|C	74|273;318;265;273;265;318;318	.|.	.|ENSP00000350428:S318C	L|S	-|-	1|2	0|0	PHTF1|PHTF1	114056089|114056089	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.521000|0.521000	0.34408|0.34408	4.190000|4.190000	0.58365|0.58365	2.703000|2.703000	0.92315|0.92315	0.460000|0.460000	0.39030|0.39030	CTC|TCT	PHTF1	-	NULL		0.333	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	G	NM_006608		114254566	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	missense	SNP	0.986	C	C	114254566	G	C	114254566	3	2	116	1	0	0	0	0	1	0	0	0	11886	942	33	1	1379	1	PHTF1	1	114254566	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	597123	114254566	134996055	16	17235										
NBPF10	100132406	genome.wustl.edu	37	chr1	145299857	145299857	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgcccccagctggcagagaaGaaacagcagttcagaaacct	10	13	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:145299857G>A	ENST00000369338.1	+	2	283	c.93G>A	c.(91-93)aaG>aaA	p.K31K	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.K302K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	302						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCAGAGAAGAAACAGCAGT	0.468																																																	0													12	12	12					1																	145299857		690	1578	2268	SO:0001819	synonymous_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.93G>A	1.37:g.145299857G>A			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.K302	ENST00000369338.1	37	c.906		1																																																																																			NBPF10	-	NULL		0.468	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038552.1	G	NM_001039703		145299857	1	no_errors	ENST00000342960	ensembl	human	known	70_37	silent	SNP	0.000	A	A	145299857	G	A	145299857	2	1	116	1	0	0	0	0	0	0	0	1	10216	933	33	1		1	NBPF10	1	145299857	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	31045291	145299857	103950764	17	17236										
HIST2H2BF	440689	genome.wustl.edu	37	chr1	149783771	149783771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tacacgtaaacggagtagctCtccttgcggctgcgcttgcg	12	12	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:149783771C>G	ENST00000369167.1	-	1	143	c.108G>C	c.(106-108)gaG>gaC	p.E36D	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.E36D|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.E36D	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	36					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CGGAGTAGCTCTCCTTGCGGC	0.562																																																	0													198	178	185					1																	149783771		2203	4298	6501	SO:0001583	missense	440689			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.108G>C	1.37:g.149783771C>G	ENSP00000358164:p.Glu36Asp		A8K0U9|B4DLA9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E36D	ENST00000369167.1	37	c.108	CCDS30846.1	1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013476	0.54468	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.22539	1.95;1.95;1.95	3.52	0.386	0.16254	Histone-fold (2);Histone core (1);	0.000000	0.48767	D	0.000168	T	0.14313	0.0346	M	0.85299	2.745	0.29779	N	0.834149	B;B;B	0.29115	0.233;0.034;0.034	B;B;B	0.35550	0.205;0.068;0.031	T	0.09930	-1.0652	10	0.72032	D	0.01	.	8.1062	0.30887	0.0:0.6919:0.0:0.3081	.	36;36;36	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	36	ENSP00000445831:E36D;ENSP00000407461:E36D;ENSP00000358164:E36D	ENSP00000358164:E36D	E	-	3	2	HIST2H2BF	148050395	0.994000	0.37717	0.999000	0.59377	0.924000	0.55760	0.385000	0.20685	0.096000	0.17463	0.184000	0.17185	GAG	HIST2H2BF	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B		0.562	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2	C	NM_001024599		149783771	-1	no_errors	ENST00000427880	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149783771	C	G	149783771	3	3	116	1	0	0	0	0	1	0	0	0	7200	912	32	1	693	1	HIST2H2BF	1	149783771	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	4483914	149783771	99466850	18	17237										
HIST2H2BF	440689	genome.wustl.edu	37	chr1	149783795	149783795	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttgcggctgcgcttgcgcttCttgccgtccttcttctgcac	10	15	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:149783795C>G	ENST00000369167.1	-	1	119	c.84G>C	c.(82-84)aaG>aaC	p.K28N	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.K28N|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.K28N	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	28					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GCTTGCGCTTCTTGCCGTCCT	0.562																																																	0													167	156	160					1																	149783795		2203	4300	6503	SO:0001583	missense	440689			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.84G>C	1.37:g.149783795C>G	ENSP00000358164:p.Lys28Asn		A8K0U9|B4DLA9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.K28N	ENST00000369167.1	37	c.84	CCDS30846.1	1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766741	0.69878	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.25085	1.82;1.82;1.82	3.52	3.52	0.40303	Histone-fold (2);	0.000000	0.50627	D	0.000108	T	0.43656	0.1257	M	0.81942	2.565	0.49798	D	0.999821	D;P;P	0.67145	0.996;0.9;0.9	D;P;P	0.68943	0.961;0.859;0.544	T	0.51896	-0.8647	10	0.87932	D	0	.	14.9173	0.70807	0.0:1.0:0.0:0.0	.	28;28;28	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	N	28	ENSP00000445831:K28N;ENSP00000407461:K28N;ENSP00000358164:K28N	ENSP00000358164:K28N	K	-	3	2	HIST2H2BF	148050419	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.662000	0.37418	2.283000	0.76528	0.184000	0.17185	AAG	HIST2H2BF	-	superfamily_Histone-fold,smart_Histone_H2B		0.562	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2	C	NM_001024599		149783795	-1	no_errors	ENST00000427880	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149783795	C	G	149783795	3	3	116	1	0	0	0	0	1	0	0	0	7200	912	32	1	717	1	HIST2H2BF	1	149783795	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	24	149783795	99466826	19	17238										
S100A9	6280	genome.wustl.edu	37	chr1	153330788	153330788	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caaaatgtcgcagctggaacGcaacatagagaccatcatca	8	11	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:153330788G>C	ENST00000368738.3	+	2	72	c.29G>C	c.(28-30)cGc>cCc	p.R10P		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCTGGAACGCAACATAGAG	0.478																																																	0													112	100	104					1																	153330788		2203	4300	6503	SO:0001583	missense	6280			BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"S100 calcium binding proteins", "EF-hand domain containing"	10499	protein-coding gene	gene with protein product		123886	"S100 calcium-binding protein A9 (calgranulin B)", "S100 calcium binding protein A9 (calgranulin B)"	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.29G>C	1.37:g.153330788G>C	ENSP00000357727:p.Arg10Pro		D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R10P	ENST00000368738.3	37	c.29	CCDS1036.1	1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069951	0.36566	.	.	ENSG00000163220	ENST00000368738	T	0.11277	2.79	4.45	-3.42	0.04825	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	2.040550	0.01851	N	0.035918	T	0.06690	0.0171	M	0.64404	1.975	0.09310	N	1	D	0.53885	0.963	P	0.49502	0.613	T	0.18903	-1.0322	10	0.37606	T	0.19	.	6.12	0.20148	0.58:0.1528:0.2672:0.0	.	10	P06702	S10A9_HUMAN	P	10	ENSP00000357727:R10P	ENSP00000357727:R10P	R	+	2	0	S100A9	151597412	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.075000	0.11431	-0.570000	0.06022	0.462000	0.41574	CGC	S100A9	-	pfam_S100_Ca-bd_sub		0.478	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A9	HGNC	protein_coding	OTTHUMT00000036793.1	G	NM_002965		153330788	1	no_errors	ENST00000368738	ensembl	human	known	70_37	missense	SNP	0.000	C	C	153330788	G	C	153330788	3	2	116	1	0	0	0	0	1	0	0	0	13817	1087	38	2	31	2	S100A9	1	153330788	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3546993	153330788	95919833	20	17239										
SMG5	23381	genome.wustl.edu	37	chr1	156228856	156228856	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgctcagactgggcaatgctGacgaagatgccaacctctgg	12	11	2	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:156228856G>C	ENST00000361813.5	-	16	2526	c.2382C>G	c.(2380-2382)gtC>gtG	p.V794V	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	794					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGGCAATGCTGACGAAGATGC	0.602																																																	0													80	66	71					1																	156228856		2203	4300	6503	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2382C>G	1.37:g.156228856G>C			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.V794	ENST00000361813.5	37	c.2382	CCDS1137.1	1																																																																																			SMG5	-	NULL		0.602	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	G	NM_015327		156228856	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	silent	SNP	1.000	C	C	156228856	G	C	156228856	2	2	116	1	0	0	0	0	0	0	0	1	14826	1277	45	1		1	SMG5	1	156228856	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	2898068	156228856	93021765	21	17240										
OR6K3	391114	genome.wustl.edu	37	chr1	158686965	158686965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctgtggctctgtattaacctCcaggcttgttcaacactttt	7	11	2	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:158686965C>T	ENST00000368146.1	-	1	988	c.989G>A	c.(988-990)gGa>gAa	p.G330E	OR6K3_ENST00000368145.1_Missense_Mutation_p.G314E			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GTATTAACCTCCAGGCTTGTT	0.418																																																	0													111	115	113					1																	158686965		2203	4300	6503	SO:0001583	missense	391114			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.989G>A	1.37:g.158686965C>T	ENSP00000357128:p.Gly330Glu		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G330E	ENST00000368146.1	37	c.989		1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773267	0.16051	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00007	9.69;9.67	3.1	-2.84	0.05751	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.21708	0.036	T	0.24368	-1.0162	9	0.87932	D	0	.	3.9966	0.09561	0.0:0.2744:0.3576:0.3681	.	330	Q8NGY3	OR6K3_HUMAN	E	314;330	ENSP00000357127:G314E;ENSP00000357128:G330E	ENSP00000357127:G314E	G	-	2	0	OR6K3	156953589	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-3.699000	0.00390	-0.667000	0.05303	0.467000	0.42956	GGA	OR6K3	-	NULL		0.418	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		C			158686965	-1	no_errors	ENST00000368146	ensembl	human	known	70_37	missense	SNP	0.000	T	T	158686965	C	T	158686965	3	4	116	1	0	0	0	0	1	0	0	0	11227	855	30	1	8	1	OR6K3	1	158686965	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2458109	158686965	90563656	22	17241										
ATP1A4	480	genome.wustl.edu	37	chr1	160156477	160156477	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acaggctgggtggaaagggaGacgtactactaaactcagca	13	8	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:160156477G>A	ENST00000368081.4	+	22	3549	c.3078G>A	c.(3076-3078)gaG>gaA	p.E1026E	ATP1A4_ENST00000470705.1_Silent_p.E162E	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1026					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAAAGGGAGACGTACTACT	0.517																																																	0													87	72	77					1																	160156477		2203	4300	6503	SO:0001819	synonymous_variant	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3078G>A	1.37:g.160156477G>A			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E1026	ENST00000368081.4	37	c.3078	CCDS1197.1	1																																																																																			ATP1A4	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	G	NM_144699		160156477	1	no_errors	ENST00000368081	ensembl	human	known	70_37	silent	SNP	1.000	A	A	160156477	G	A	160156477	2	1	116	1	0	0	0	0	0	0	0	1	1132	933	33	1		1	ATP1A4	1	160156477	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1469512	160156477	89094144	23	17242										
VANGL2	57216	genome.wustl.edu	37	chr1	160395021	160395021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccggtgaccaacggcctcaaGgatggcatcgttttcctctt	10	13	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:160395021G>A	ENST00000368061.2	+	8	1893	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	473					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACGGCCTCAAGGATGGCATCG	0.547																																																	0													91	78	82					1																	160395021		2203	4300	6503	SO:0001819	synonymous_variant	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1419G>A	1.37:g.160395021G>A			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.K473	ENST00000368061.2	37	c.1419	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus		0.547	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	G	NM_020335		160395021	1	no_errors	ENST00000368061	ensembl	human	known	70_37	silent	SNP	0.978	A	A	160395021	G	A	160395021	2	1	116	1	0	0	0	0	0	0	0	1	17151	991	35	4		4	VANGL2	1	160395021	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	238544	160395021	88855600	24	17243										
PPOX	5498	genome.wustl.edu	37	chr1	161140467	161140467	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctagtggctgtgtcttatctCaggagctgtttcaacagcgg	12	9	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:161140467C>T	ENST00000367999.4	+	11	1422	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	PPOX_ENST00000544598.1_Nonsense_Mutation_p.Q94*|PPOX_ENST00000432542.2_Nonsense_Mutation_p.Q131*|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Nonsense_Mutation_p.Q49*|PPOX_ENST00000352210.5_Nonsense_Mutation_p.Q386*|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	386					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGTCTTATCTCAGGAGCTGTT	0.522																																																	0													93	95	94					1																	161140467		2203	4300	6503	SO:0001587	stop_gained	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1156C>T	1.37:g.161140467C>T	ENSP00000356978:p.Gln386*		D3DVG0|Q5VTW8	Nonsense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.Q386*	ENST00000367999.4	37	c.1156	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.761729	0.96906	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935;ENST00000535223;ENST00000432542	.	.	.	5.96	2.98	0.34508	.	1.129100	0.06367	N	0.712745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.6781	2.6517	0.05001	0.1543:0.5392:0.1489:0.1576	.	.	.	.	X	386;386;94;353;49;131	.	ENSP00000343943:Q386X	Q	+	1	0	PPOX	159407091	0.000000	0.05858	0.787000	0.31911	0.976000	0.68499	0.225000	0.17757	0.372000	0.24591	0.650000	0.86243	CAG	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase		0.522	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	C	NM_000309		161140467	1	no_errors	ENST00000352210	ensembl	human	known	70_37	nonsense	SNP	0.230	T	T	161140467	C	T	161140467	4	4	116	1	0	0	0	0	0	1	0	0	12375	827	29	1	1194	1	PPOX	1	161140467	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	745446	161140467	88110154	25	17244										
UHMK1	127933	genome.wustl.edu	37	chr1	162467847	162467847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccgcgttttctggaggccttCgggcggctgtggcaggtaca	16	11	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:162467847C>T	ENST00000489294.1	+	1	215	c.57C>T	c.(55-57)ttC>ttT	p.F19F	UHMK1_ENST00000538489.1_Silent_p.F19F|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	19					cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGAGGCCTTCGGGCGGCTGT	0.726																																																	0													16	20	18					1																	162467847		2112	4203	6315	SO:0001819	synonymous_variant	127933			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.57C>T	1.37:g.162467847C>T			A8K8K4|G3V1M1|Q96C22	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom	p.F19	ENST00000489294.1	37	c.57	CCDS1239.1	1																																																																																			UHMK1	-	superfamily_Kinase-like_dom		0.726	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	C	NM_175866		162467847	1	no_errors	ENST00000489294	ensembl	human	known	70_37	silent	SNP	0.999	T	T	162467847	C	T	162467847	2	4	116	1	0	0	0	0	0	0	0	1	16997	883	31	1		1	UHMK1	1	162467847	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1327380	162467847	86782774	26	17245										
TEDDM1	127670	genome.wustl.edu	37	chr1	182369456	182369456	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cttgatggcacttgcttcctCatgagcaccatcccgccatc	7	16	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:182369456C>T	ENST00000367565.1	-	1	295	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	55						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CTTGCTTCCTCATGAGCACCA	0.478																																																	0													167	138	148					1																	182369456		2203	4300	6503	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.165G>A	1.37:g.182369456C>T	ENSP00000356536:p.Met55Ile		Q8IVJ0	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.M55I	ENST00000367565.1	37	c.165	CCDS30953.1	1	.	.	.	.	.	.	.	.	.	.	C	0.320	-0.962226	0.02249	.	.	ENSG00000203730	ENST00000367565	T	0.38240	1.15	5.05	0.863	0.19062	.	0.334872	0.30028	N	0.010598	T	0.13543	0.0328	N	0.13168	0.305	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.28299	-1.0048	10	0.02654	T	1	-43.4949	4.0847	0.09942	0.2822:0.4974:0.1375:0.0828	.	55	Q5T9Z0	TEDM1_HUMAN	I	55	ENSP00000356536:M55I	ENSP00000356536:M55I	M	-	3	0	TEDDM1	180636079	0.001000	0.12720	0.094000	0.20943	0.005000	0.04900	0.510000	0.22723	0.687000	0.31509	0.655000	0.94253	ATG	TEDDM1	-	NULL		0.478	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEDDM1	HGNC	protein_coding	OTTHUMT00000091029.1	C	NM_172000		182369456	-1	no_errors	ENST00000367565	ensembl	human	known	70_37	missense	SNP	0.001	T	T	182369456	C	T	182369456	3	4	116	1	0	0	0	0	1	0	0	0	15779	826	29	1	660	1	TEDDM1	1	182369456	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	19901609	182369456	66881165	27	17246										
RNPEP	6051	genome.wustl.edu	37	chr1	201970518	201970518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgccaggcgttgacccggacGacacctataatgagaccccc	10	15	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:201970518G>A	ENST00000295640.4	+	7	1262	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.D368N	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	407					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGACCCGGACGACACCTATAA	0.488																																					GBM(19;39 479 7473 13131 19462)												0													98	84	89					1																	201970518		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1219G>A	1.37:g.201970518G>A	ENSP00000295640:p.Asp407Asn		Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.D407N	ENST00000295640.4	37	c.1219	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727504	0.69074	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.04809	4.18;4.18;4.18;3.55	5.71	5.71	0.89125	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.058683	0.64402	D	0.000005	T	0.14227	0.0344	M	0.77406	2.37	0.58432	D	0.999997	P;P	0.52842	0.956;0.956	P;P	0.47376	0.545;0.545	T	0.00326	-1.1815	10	0.54805	T	0.06	-39.9967	18.6362	0.91379	0.0:0.0:1.0:0.0	.	415;407	Q7RU04;Q9H4A4	.;AMPB_HUMAN	N	407;368;276;115	ENSP00000295640:D407N;ENSP00000356255:D368N;ENSP00000389602:D276N;ENSP00000407614:D115N	ENSP00000295640:D407N	D	+	1	0	RNPEP	200237141	0.999000	0.42202	0.432000	0.26747	0.167000	0.22549	3.782000	0.55401	2.684000	0.91462	0.561000	0.74099	GAC	RNPEP	-	pfam_Peptidase_M1_N		0.488	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	G	NM_020216		201970518	1	no_errors	ENST00000295640	ensembl	human	known	70_37	missense	SNP	0.931	A	A	201970518	G	A	201970518	3	1	116	1	0	0	0	0	1	0	0	0	13539	1058	37	1	1245	1	RNPEP	1	201970518	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	19601062	201970518	47280103	28	17247										
ENAH	55740	genome.wustl.edu	37	chr1	225699552	225699552	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggccttagaagttacaggctCtgaatcttcctaaatataca	7	9	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:225699552C>T	ENST00000366844.3	-	10	1883	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	ENAH_ENST00000366843.2_Missense_Mutation_p.E478K|ENAH_ENST00000284563.6_Missense_Mutation_p.E725K	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313																																																	2	Substitution - Nonsense(2)	lung(2)											36	38	37					1																	225699552		2202	4297	6499	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1432G>A	1.37:g.225699552C>T	ENSP00000355809:p.Glu478Lys		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.E478K	ENST00000366844.3	37	c.1432	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987568	0.93106	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.47869	0.96;1.66;0.83	5.98	5.98	0.97165	.	0.361134	0.29293	N	0.012577	T	0.69975	0.3171	M	0.75447	2.3	0.50313	D	0.999861	D;D	0.76494	0.999;0.992	D;D	0.79784	0.993;0.941	T	0.68055	-0.5510	10	0.46703	T	0.11	-16.7021	18.6239	0.91331	0.0:1.0:0.0:0.0	.	478;478	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	478;478;725;440	ENSP00000355809:E478K;ENSP00000355808:E478K;ENSP00000284563:E725K	ENSP00000284563:E725K	E	-	1	0	ENAH	223766175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.838000	0.97847	0.655000	0.94253	GAG	ENAH	-	NULL		0.313	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225699552	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	225699552	C	T	225699552	3	4	116	1	0	0	0	0	1	0	0	0	5123	922	32	1	367	1	ENAH	1	225699552	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	23729034	225699552	23551069	29	17248										
SRP9	6726	genome.wustl.edu	37	chr1	225977058	225977058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aatgttaccatggaaactgaGtgaatggtttgaaatgaaga	11	3	0	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:225977058G>A	ENST00000304786.7	+	3	370	c.258G>A	c.(256-258)gaG>gaA	p.E86E	SRP9_ENST00000366839.4_3'UTR|SRP9_ENST00000366838.1_3'UTR	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	86					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)			endometrium(1)|kidney(1)|skin(1)	3						TGGAAACTGAGTGAATGGTTT	0.378																																																	0													30	29	29					1																	225977058		2201	4278	6479	SO:0001819	synonymous_variant	6726			BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"signal recognition particle 9kD"			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.258G>A	1.37:g.225977058G>A			A8K0N0|Q6NVX0|Q8WTW0	Silent	SNP	pfam_Signal_recog_particle_SRP9,superfamily_Signal_recog_particle_SRP9/14,pirsf_Signal_recog_particle_SRP9	p.E86	ENST00000304786.7	37	c.258	CCDS1546.1	1																																																																																			SRP9	-	NULL		0.378	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP9	HGNC	protein_coding	OTTHUMT00000092054.1	G	NM_003133		225977058	1	no_errors	ENST00000304786	ensembl	human	known	70_37	silent	SNP	1.000	A	A	225977058	G	A	225977058	2	1	116	1	0	0	0	0	0	0	0	1	15188	1020	36	4		4	SRP9	1	225977058	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	277506	225977058	23273563	30	17249										
KIF26B	55083	genome.wustl.edu	37	chr1	245851198	245851198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgccttcccggcgggcctccCagacgagcctagcggcaaga	13	17	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr1:245851198C>A	ENST00000407071.2	+	12	5353	c.4913C>A	c.(4912-4914)cCa>cAa	p.P1638Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1257Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1638					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCGGGCCTCCCAGACGAGCCT	0.677																																																	0													7	11	10					1																	245851198		1922	4117	6039	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4913C>A	1.37:g.245851198C>A	ENSP00000385545:p.Pro1638Gln		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1638Q	ENST00000407071.2	37	c.4913	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	5.548	0.285967	0.10513	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76186	-1.0;-1.0	5.52	3.63	0.41609	.	.	.	.	.	T	0.68504	0.3008	M	0.63428	1.95	0.33503	D	0.590133	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.002	T	0.67019	-0.5776	9	0.23891	T	0.37	.	10.3788	0.44099	0.1352:0.7948:0.0:0.0699	.	1257;1638	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1638;1257;1254	ENSP00000385545:P1638Q;ENSP00000355475:P1257Q	ENSP00000355475:P1257Q	P	+	2	0	KIF26B	243917821	0.440000	0.25618	0.589000	0.28718	0.084000	0.17831	3.214000	0.51161	0.676000	0.31285	0.561000	0.74099	CCA	KIF26B	-	NULL		0.677	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	C	XM_371354		245851198	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	0.828	A	A	245851198	C	A	245851198	3	1	116	1	0	0	0	0	1	0	0	0	8315	594	21	4	4959	4	KIF26B	1	245851198	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	19874140	245851198	3399423	31	17250										
SOS1	6654	genome.wustl.edu	37	chr2	39240630	39240630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttccaataaattcttccattCgttgcaaaagatatgcatct	4	9	2	1	rs483352826		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:39240630C>T	ENST00000426016.1	-	14	2224	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q	SOS1_ENST00000402219.2_Missense_Mutation_p.R713Q|SOS1_ENST00000395038.2_Missense_Mutation_p.R713Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	713	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTCTTCCATTCGTTGCAAAAG	0.333									Noonan syndrome																																								0													108	111	110					2																	39240630		2203	4298	6501	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2138G>A	2.37:g.39240630C>T	ENSP00000387784:p.Arg713Gln		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R713Q	ENST00000426016.1	37	c.2138	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891736	0.52014	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.48201	0.82;0.82;0.82	5.92	5.92	0.95590	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.071371	0.53938	D	0.000056	T	0.41926	0.1180	L	0.47716	1.5	0.80722	D	1	P	0.35542	0.508	B	0.18263	0.021	T	0.39099	-0.9630	10	0.54805	T	0.06	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	713	Q07889	SOS1_HUMAN	Q	713;713;445;713;713	ENSP00000387784:R713Q;ENSP00000384675:R713Q;ENSP00000378479:R713Q	ENSP00000263879:R713Q	R	-	2	0	SOS1	39094134	0.044000	0.20184	1.000000	0.80357	0.994000	0.84299	1.629000	0.37071	2.794000	0.96219	0.650000	0.86243	CGA	SOS1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.333	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39240630	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	0.901	T	T	39240630	C	T	39240630	3	4	116	1	0	0	0	0	1	0	0	0	14966	884	31	1	1907	1	SOS1	2	39240630	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		39240630	203958743	32	17251										
GMCL1	64395	genome.wustl.edu	37	chr2	70088422	70088422	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	catttcagaatggctctcttCtgtgtataaacagcagtggt	9	8	3	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:70088422C>T	ENST00000282570.3	+	10	1336	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	362					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTCTCTTCTGTGTATAAA	0.318																																																	0													46	51	49					2																	70088422		2203	4300	6503	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1085C>T	2.37:g.70088422C>T	ENSP00000282570:p.Ser362Phe		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.S362F	ENST00000282570.3	37	c.1085	CCDS1895.1	2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120495	0.56613	.	.	ENSG00000087338	ENST00000282570	T	0.55413	0.52	5.29	3.43	0.39272	.	0.245803	0.42420	D	0.000704	T	0.52075	0.1712	L	0.53249	1.67	0.45354	D	0.998341	B	0.32543	0.375	B	0.38755	0.281	T	0.53500	-0.8430	10	0.52906	T	0.07	-6.3574	13.3308	0.60485	0.0:0.6681:0.3319:0.0	.	362	Q96IK5	GMCL1_HUMAN	F	362	ENSP00000282570:S362F	ENSP00000282570:S362F	S	+	2	0	GMCL1	69941926	0.658000	0.27402	0.997000	0.53966	0.988000	0.76386	2.213000	0.42844	0.747000	0.32809	0.555000	0.69702	TCT	GMCL1	-	NULL		0.318	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMCL1	HGNC	protein_coding	OTTHUMT00000251841.2	C	NM_178439		70088422	1	no_errors	ENST00000282570	ensembl	human	known	70_37	missense	SNP	0.999	T	T	70088422	C	T	70088422	3	4	116	1	0	0	0	0	1	0	0	0	6504	913	32	1	1123	1	GMCL1	2	70088422	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	30847792	70088422	173110951	33	17252										
CLEC4F	165530	genome.wustl.edu	37	chr2	71046974	71046974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aatgccggggtagcctgaacGagcctcggtatcttgggggc	16	10	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:71046974G>A	ENST00000272367.2	-	2	187	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CLEC4F_ENST00000426626.1_Silent_p.L37L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	37					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAGCCTGAACGAGCCTCGGTA	0.557																																					Colon(107;10 2157 6841 26035)												0													57	56	56					2																	71046974		2203	4300	6503	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.111C>T	2.37:g.71046974G>A			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L37	ENST00000272367.2	37	c.111	CCDS1910.1	2																																																																																			CLEC4F	-	NULL		0.557	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	G	NM_173535		71046974	-1	no_errors	ENST00000272367	ensembl	human	known	70_37	silent	SNP	0.000	A	A	71046974	G	A	71046974	2	1	116	1	0	0	0	0	0	0	0	1	3521	1045	37	1		1	CLEC4F	2	71046974	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	958552	71046974	172152399	34	17253										
ZAP70	7535	genome.wustl.edu	37	chr2	98340609	98340609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggacgggctcttcctgctgcGccagtgcctgcgctcgctgg	15	15	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:98340609G>T	ENST00000264972.5	+	3	325	c.110G>T	c.(109-111)cGc>cTc	p.R37L	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	37	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTCCTGCTGCGCCAGTGCCTG	0.687																																																	0													14	12	13					2																	98340609		2190	4277	6467	SO:0001583	missense	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.110G>T	2.37:g.98340609G>T	ENSP00000264972:p.Arg37Leu		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R37L	ENST00000264972.5	37	c.110	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.067993	0.93950	.	.	ENSG00000115085	ENST00000264972	D	0.99287	-5.69	4.6	4.6	0.57074	SH2 motif (4);	0.000000	0.50627	D	0.000112	D	0.99701	0.9886	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97019	0.9742	10	0.87932	D	0	.	15.3022	0.73962	0.0:0.0:1.0:0.0	.	37;37	B4E0E2;P43403	.;ZAP70_HUMAN	L	37	ENSP00000264972:R37L	ENSP00000264972:R37L	R	+	2	0	ZAP70	97707041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.373000	0.97168	2.306000	0.77630	0.460000	0.39030	CGC	ZAP70	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	G			98340609	1	no_errors	ENST00000264972	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98340609	G	T	98340609	3	4	116	1	0	0	0	0	1	0	0	0	17545	1087	38	2	112	2	ZAP70	2	98340609	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	27293635	98340609	144858764	35	17254										
CBWD2	150472	genome.wustl.edu	37	chr2	114210748	114210748	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctatgttttgggttgatgctGaattagggagtgatatttac	12	3	0	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:114210748G>C	ENST00000259199.4	+	5	641	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	CBWD2_ENST00000416503.2_Missense_Mutation_p.E155Q|CBWD2_ENST00000433343.2_Missense_Mutation_p.E119Q	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	155							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						GGTTGATGCTGAATTAGGGAG	0.284																																																	0													18	31	27					2																	114210748		1466	2650	4116	SO:0001583	missense	150472			AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.463G>C	2.37:g.114210748G>C	ENSP00000259199:p.Glu155Gln		Q0VAN3	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.E155Q	ENST00000259199.4	37	c.463	CCDS2116.1	2	.	.	.	.	.	.	.	.	.	.	.	12.99	2.102390	0.37145	.	.	ENSG00000136682	ENST00000259199;ENST00000376448;ENST00000416503;ENST00000433343	T;T;T	0.46063	0.88;0.88;0.88	2.85	2.85	0.33270	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	M	0.62088	1.915	0.53005	D	0.999963	B;B;P	0.37663	0.061;0.063;0.604	B;B;P	0.46685	0.1;0.09;0.524	T	0.44467	-0.9326	10	0.33940	T	0.23	-15.652	11.5306	0.50607	0.0:0.0:1.0:0.0	.	119;119;155	B7Z8M0;F8WEG4;Q8IUF1	.;.;CBWD2_HUMAN	Q	155;155;155;119	ENSP00000259199:E155Q;ENSP00000411906:E155Q;ENSP00000401945:E119Q	ENSP00000259199:E155Q	E	+	1	0	CBWD2	113927218	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.617000	0.90927	1.617000	0.50277	0.398000	0.26397	GAA	CBWD2	-	pfam_CobW/HypB/UreG_dom		0.284	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD2	HGNC	protein_coding	OTTHUMT00000254149.3	G	NM_172003		114210748	1	no_errors	ENST00000259199	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114210748	G	C	114210748	3	2	116	1	0	0	0	0	1	0	0	0	2718	1291	45	1	481	1	CBWD2	2	114210748	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	15870139	114210748	128988625	36	17255										
CLASP1	23332	genome.wustl.edu	37	chr2	122139867	122139867	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaaaagggaggtgggtgcttCgctaacccgtcggcactcca	14	11	0	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:122139867C>T	ENST00000263710.4	-	33	3797	c.3408G>A	c.(3406-3408)gcG>gcA	p.A1136A	CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000545861.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1136					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)			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)					GTGGGTGCTTCGCTAACCCGT	0.542																																																	0													68	78	75					2																	122139867		1985	4140	6125	SO:0001819	synonymous_variant	23332			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.3408G>A	2.37:g.122139867C>T			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A1136	ENST00000263710.4	37	c.3408		2																																																																																			CLASP1	-	superfamily_ARM-type_fold		0.542	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122139867	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	silent	SNP	1.000	T	T	122139867	C	T	122139867	2	4	116	1	0	0	0	0	0	0	0	1	3459	871	31	1		1	CLASP1	2	122139867	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	7929119	122139867	121059506	37	17256										
ARHGEF4	50649	genome.wustl.edu	37	chr2	131798817	131798817	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccttagcaagccgacttccaGatctactcggagtactgcaa	8	13	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:131798817G>A	ENST00000326016.5	+	9	1638	c.1119G>A	c.(1117-1119)caG>caA	p.Q373Q	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.Q302Q|ARHGEF4_ENST00000409303.1_Silent_p.Q313Q|ARHGEF4_ENST00000525839.1_Silent_p.Q373Q|ARHGEF4_ENST00000392953.3_Silent_p.Q373Q	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	373	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCGACTTCCAGATCTACTCGG	0.592																																																	0													97	93	94					2																	131798817		2203	4300	6503	SO:0001819	synonymous_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1119G>A	2.37:g.131798817G>A			Q9HDC6|Q9UPP0	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.Q373	ENST00000326016.5	37	c.1119	CCDS2165.1	2																																																																																			ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.592	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	G			131798817	1	no_errors	ENST00000326016	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131798817	G	A	131798817	2	1	116	1	0	0	0	0	0	0	0	1	908	933	33	1		1	ARHGEF4	2	131798817	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	9658950	131798817	111400556	38	17257										
TTN	7273	genome.wustl.edu	37	chr2	179433825	179433825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aggccaataccatactcattCtcagctgtgactctaaagta	6	11	3	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:179433825C>G	ENST00000591111.1	-	276	72335	c.72111G>C	c.(72109-72111)gaG>gaC	p.E24037D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16805D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E25678D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16738D|TTN_ENST00000460472.2_Missense_Mutation_p.E16613D|TTN_ENST00000342992.6_Missense_Mutation_p.E23110D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24037	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATACTCATTCTCAGCTGTGA	0.423																																																	0													167	162	164					2																	179433825		1970	4152	6122	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72111G>C	2.37:g.179433825C>G	ENSP00000465570:p.Glu24037Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E23110D	ENST00000591111.1	37	c.69330		2	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036527	0.19669	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.93	3.79	0.43588	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79981	0.4540	H	0.97491	4.015	0.47476	D	0.999438	D;D;D;D	0.64830	0.994;0.994;0.994;0.974	D;D;D;D	0.76071	0.987;0.987;0.987;0.971	D	0.84736	0.0748	9	0.87932	D	0	.	10.2963	0.43627	0.0:0.7273:0.0:0.2727	.	16613;16738;16805;24037	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	23110;16613;16805;16738;16611	ENSP00000343764:E23110D;ENSP00000434586:E16613D;ENSP00000340554:E16805D;ENSP00000352154:E16738D	ENSP00000340554:E16805D	E	-	3	2	TTN	179142071	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.537000	0.23144	1.480000	0.48289	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179433825	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179433825	C	G	179433825	3	3	116	1	0	0	0	0	1	0	0	0	16766	912	32	1	31093	1	TTN	2	179433825	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	47635008	179433825	63765548	39	17258										
NBEAL1	65065	genome.wustl.edu	37	chr2	204000415	204000415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tacaggttttgcaaattttgCagttccagccagatgcagca	9	9	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:204000415C>T	ENST00000449802.1	+	27	4075	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1248										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCAAATTTTGCAGTTCCAGCC	0.294																																																	0													36	30	32					2																	204000415		692	1591	2283	SO:0001587	stop_gained	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.3742C>T	2.37:g.204000415C>T	ENSP00000399903:p.Gln1248*		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1248*	ENST00000449802.1	37	c.3742	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.227900	0.99106	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.33	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.7415	0.62852	0.2807:0.7193:0.0:0.0	.	.	.	.	X	1248	.	ENSP00000344985:Q1248X	Q	+	1	0	NBEAL1	203708660	0.999000	0.42202	0.993000	0.49108	0.278000	0.26855	3.272000	0.51616	0.572000	0.29383	0.563000	0.77884	CAG	NBEAL1	-	NULL		0.294	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204000415	1	no_errors	ENST00000449802	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	204000415	C	T	204000415	4	4	116	1	0	0	0	0	0	1	0	0	10211	711	25	4	3844	4	NBEAL1	2	204000415	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	24566590	204000415	39198958	40	17259										
VIL1	7429	genome.wustl.edu	37	chr2	219292983	219292983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggaagagtttcaaccgagggGatgttttcctcctggacctt	12	9	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr2:219292983G>T	ENST00000248444.5	+	6	578	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	VIL1_ENST00000440053.1_Missense_Mutation_p.D164Y|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	164	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACCGAGGGGATGTTTTCCT	0.547																																																	0													148	134	139					2																	219292983		2203	4300	6503	SO:0001583	missense	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.490G>T	2.37:g.219292983G>T	ENSP00000248444:p.Asp164Tyr		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.D164Y	ENST00000248444.5	37	c.490	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914308	0.92178	.	.	ENSG00000127831	ENST00000248444;ENST00000440053	T;T	0.38887	1.11;1.11	4.86	4.86	0.63082	Gelsolin domain (1);	0.150776	0.43747	D	0.000536	T	0.76821	0.4041	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84414	0.0567	10	0.52906	T	0.07	-24.089	18.1862	0.89793	0.0:0.0:1.0:0.0	.	164;164	Q96AC8;P09327	.;VILI_HUMAN	Y	164	ENSP00000248444:D164Y;ENSP00000409270:D164Y	ENSP00000248444:D164Y	D	+	1	0	VIL1	219001227	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.720000	0.84759	2.540000	0.85666	0.462000	0.41574	GAT	VIL1	-	pfam_Gelsolin_dom,smart_Gelsolin		0.547	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	G	NM_007127		219292983	1	no_errors	ENST00000248444	ensembl	human	known	70_37	missense	SNP	1.000	T	T	219292983	G	T	219292983	3	4	116	1	0	0	0	0	1	0	0	0	17195	1174	41	3	508	3	VIL1	2	219292983	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	15292568	219292983	23906390	41	17260										
ZNF385D	79750	genome.wustl.edu	37	chr3	21465528	21465528	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcgggggcttcccagcagctCtgtctttgtgccttctactg	11	13	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:21465528C>T	ENST00000281523.2	-	7	1399	c.881G>A	c.(880-882)aGa>aAa	p.R294K		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	294						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CCCAGCAGCTCTGTCTTTGTG	0.398																																																	0													160	156	157					3																	21465528		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.881G>A	3.37:g.21465528C>T	ENSP00000281523:p.Arg294Lys			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R294K	ENST00000281523.2	37	c.881	CCDS2636.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.201026	0.94997	.	.	ENSG00000151789	ENST00000281523	T	0.39997	1.05	5.6	5.6	0.85130	Zinc finger, U1-type (1);	0.048859	0.85682	D	0.000000	T	0.59293	0.2183	L	0.52905	1.665	0.51012	D	0.999901	D	0.58970	0.984	D	0.65443	0.935	T	0.49409	-0.8943	10	0.23302	T	0.38	-17.1993	19.589	0.95499	0.0:1.0:0.0:0.0	.	294	Q9H6B1	Z385D_HUMAN	K	294	ENSP00000281523:R294K	ENSP00000281523:R294K	R	-	2	0	ZNF385D	21440532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.625000	0.88918	0.561000	0.74099	AGA	ZNF385D	-	smart_Znf_U1		0.398	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	C	NM_024697		21465528	-1	no_errors	ENST00000281523	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21465528	C	T	21465528	3	4	116	1	0	0	0	0	1	0	0	0	17908	913	32	1	314	1	ZNF385D	3	21465528	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		21465528	176556902	42	17261										
EPM2AIP1	9852	genome.wustl.edu	37	chr3	37034248	37034248	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccgcgacccttcaaggccaaGaggcggcagagcccgaggcc	14	16	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:37034248G>T	ENST00000322716.5	-	1	547	c.321C>A	c.(319-321)ctC>ctA	p.L107L	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	107					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCAAGGCCAAGAGGCGGCAGA	0.647																																																	0													82	88	86					3																	37034248		1948	4157	6105	SO:0001819	synonymous_variant	9852			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.321C>A	3.37:g.37034248G>T			O94866|Q9H3L3	Silent	SNP	NULL	p.L107	ENST00000322716.5	37	c.321	CCDS46790.1	3																																																																																			EPM2AIP1	-	NULL		0.647	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	G	NM_014805		37034248	-1	no_errors	ENST00000322716	ensembl	human	known	70_37	silent	SNP	0.389	T	T	37034248	G	T	37034248	2	4	116	1	0	0	0	0	0	0	0	1	5196	929	33	3		3	EPM2AIP1	3	37034248	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	15568720	37034248	160988182	43	17262										
KLHDC8B	200942	genome.wustl.edu	37	chr3	49212502	49212502	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccctctcctgcagggtcctgGaccaaattgccccgcagcct	9	18	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:49212502G>A	ENST00000332780.2	+	5	983	c.774G>A	c.(772-774)tgG>tgA	p.W258*	C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	258						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGTCCTGGACCAAATTGC	0.597																																																	0													68	64	66					3																	49212502		2203	4300	6503	SO:0001587	stop_gained	200942				CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.774G>A	3.37:g.49212502G>A	ENSP00000327468:p.Trp258*			Nonsense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.W258*	ENST00000332780.2	37	c.774	CCDS2791.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.167200	0.97343	.	.	ENSG00000185909	ENST00000332780;ENST00000538729	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.5185	17.5839	0.87976	0.0:0.0:1.0:0.0	.	.	.	.	X	258;9	.	ENSP00000327468:W258X	W	+	3	0	KLHDC8B	49187506	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.455000	0.90355	2.837000	0.97791	0.655000	0.94253	TGG	KLHDC8B	-	pfam_Kelch_1,smart_Kelch_1		0.597	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC8B	HGNC	protein_coding	OTTHUMT00000345974.1	G	NM_173546		49212502	1	no_errors	ENST00000332780	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49212502	G	A	49212502	4	1	116	1	0	0	0	0	0	1	0	0	8383	1183	41	1	788	1	KLHDC8B	3	49212502	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	12178254	49212502	148809928	44	17263										
DNAH1	25981	genome.wustl.edu	37	chr3	52404646	52404646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	taaggctcaagatggagaacGaacaggtgagagccggcggc	16	8	1	3	rs375829118	byFrequency	TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:52404646G>A	ENST00000420323.2	+	40	6673	c.6412G>A	c.(6412-6414)Gaa>Aaa	p.E2138K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2138					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGGAGAACGAACAGGTGAG	0.627													G|||	2	0.000399361	0.0015	0	5008	,	,		17983	0		0	False		,,,				2504	0																0								G	LYS/GLU	4,3952		0,4,1974	29	31	31		6412	2.6	0	3		31	0,8296		0,0,4148	no	missense	DNAH1	NM_015512.4	56	0,4,6122	AA,AG,GG		0.0,0.1011,0.0326	benign	2138/4266	52404646	4,12248	1978	4148	6126	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6412G>A	3.37:g.52404646G>A	ENSP00000401514:p.Glu2138Lys		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.E2138K	ENST00000420323.2	37	c.6412	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255431	0.22965	0.001011	0.0	ENSG00000114841	ENST00000420323	T	0.23754	1.89	4.47	2.63	0.31362	.	0.348517	0.24160	N	0.040997	T	0.14743	0.0356	L	0.33624	1.015	0.28887	N	0.8941	B	0.27316	0.175	B	0.15052	0.012	T	0.27640	-1.0068	10	0.09338	T	0.73	.	9.4935	0.38974	0.0:0.1542:0.6856:0.1601	.	2138	C9JXH6	.	K	2138	ENSP00000401514:E2138K	ENSP00000401514:E2138K	E	+	1	0	DNAH1	52379686	1.000000	0.71417	0.003000	0.11579	0.087000	0.18053	3.747000	0.55134	0.292000	0.22492	0.491000	0.48974	GAA	DNAH1	-	NULL		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52404646	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.241	A	A	52404646	G	A	52404646	3	1	116	1	0	0	0	0	1	0	0	0	4607	1059	37	1	6566	1	DNAH1	3	52404646	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3192144	52404646	145617784	45	17264										
NT5DC2	64943	genome.wustl.edu	37	chr3	52563276	52563276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaagccgtagacctcaacgtCacgcaggctgatctcgttgt	10	12	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:52563276C>T	ENST00000307076.4	-	2	596	c.196G>A	c.(196-198)Gac>Aac	p.D66N	NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D103N|NT5DC2_ENST00000307092.4_Missense_Mutation_p.D32N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D103N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	66							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ACCTCAACGTCACGCAGGCTG	0.592																																																	0													241	192	208					3																	52563276		2203	4300	6503	SO:0001583	missense	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.196G>A	3.37:g.52563276C>T	ENSP00000302468:p.Asp66Asn		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.D103N	ENST00000307076.4	37	c.307	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591555	0.46214	.	.	ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.38	5.38	0.77491	HAD-like domain (1);	0.211748	0.48286	D	0.000186	T	0.25121	0.0610	L	0.38175	1.15	0.32745	N	0.507168	B;B;B	0.28258	0.205;0.025;0.045	B;B;B	0.29077	0.098;0.02;0.098	T	0.15607	-1.0431	10	0.31617	T	0.26	-22.0509	19.1256	0.93382	0.0:1.0:0.0:0.0	.	103;66;103	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	N	32;66;103;103	ENSP00000306017:D32N;ENSP00000302468:D66N;ENSP00000406933:D103N;ENSP00000419547:D103N	ENSP00000302468:D66N	D	-	1	0	NT5DC2	52538316	1.000000	0.71417	0.123000	0.21794	0.532000	0.34746	5.770000	0.68873	2.512000	0.84698	0.555000	0.69702	GAC	NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	C	NM_022908		52563276	-1	no_errors	ENST00000422318	ensembl	human	known	70_37	missense	SNP	0.593	T	T	52563276	C	T	52563276	3	4	116	1	0	0	0	0	1	0	0	0	10715	826	29	1	1418	1	NT5DC2	3	52563276	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	158630	52563276	145459154	46	17265										
EPHA3	2042	genome.wustl.edu	37	chr3	89391038	89391038	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atatgtaaaaaatgtgggtgGaatataaaacagtgtgagcc	11	3	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:89391038G>A	ENST00000336596.2	+	5	1329	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	EPHA3_ENST00000494014.1_Nonsense_Mutation_p.W368*|EPHA3_ENST00000452448.2_Nonsense_Mutation_p.W368*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	368	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AATGTGGGTGGAATATAAAAC	0.493										TSP Lung(6;0.00050)																																							0													115	109	111					3																	89391038		2203	4300	6503	SO:0001587	stop_gained	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1104G>A	3.37:g.89391038G>A	ENSP00000337451:p.Trp368*		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.W368*	ENST00000336596.2	37	c.1104	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.136771	0.94517	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.87	4.99	0.66335	.	0.220039	0.47455	D	0.000230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3205	0.11015	0.21:0.1995:0.5905:0.0	.	.	.	.	X	368	.	.	W	+	3	0	EPHA3	89473728	0.991000	0.36638	1.000000	0.80357	0.989000	0.77384	1.111000	0.31159	2.941000	0.99782	0.655000	0.94253	TGG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89391038	1	no_errors	ENST00000336596	ensembl	human	known	70_37	nonsense	SNP	0.978	A	A	89391038	G	A	89391038	4	1	116	1	0	0	0	0	0	1	0	0	5180	1183	41	1	1122	1	EPHA3	3	89391038	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	36827762	89391038	108631392	47	17266										
OR5H2	79310	genome.wustl.edu	37	chr3	98002360	98002360	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggtttttattttgtctggctCaattcaggtattcaccattg	8	7	4	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:98002360C>G	ENST00000355273.2	+	1	629	c.629C>G	c.(628-630)tCa>tGa	p.S210*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTGTCTGGCTCAATTCAGGTA	0.318																																																	0													84	86	86					3																	98002360		2203	4299	6502	SO:0001587	stop_gained	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.629C>G	3.37:g.98002360C>G	ENSP00000347418:p.Ser210*		Q6IF87	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S210*	ENST00000355273.2	37	c.629	CCDS33801.1	3	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498536	0.26861	.	.	ENSG00000197938	ENST00000355273	.	.	.	3.03	0.372	0.16173	.	0.000000	0.32736	U	0.005718	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	5.2214	0.15371	0.0:0.4483:0.0:0.5517	.	.	.	.	X	210	.	ENSP00000347418:S210X	S	+	2	0	OR5H2	99485050	0.003000	0.15002	0.003000	0.11579	0.015000	0.08874	1.586000	0.36611	0.146000	0.19002	0.411000	0.27672	TCA	OR5H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.318	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H2	HGNC	protein_coding	OTTHUMT00000359113.2	C			98002360	1	no_errors	ENST00000355273	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	98002360	C	G	98002360	4	3	116	1	0	0	0	0	0	1	0	0	11186	838	29	1	631	1	OR5H2	3	98002360	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	8611322	98002360	100020070	48	17267										
IMPG2	50939	genome.wustl.edu	37	chr3	100976541	100976541	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gttttccaccttgttggagtGaaggctaatgaggtcccagg	13	8	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:100976541G>A	ENST00000193391.7	-	10	1172	c.985C>T	c.(985-987)Cac>Tac	p.H329Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	329	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTGTTGGAGTGAAGGCTAATG	0.433																																																	0													139	131	134					3																	100976541		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.985C>T	3.37:g.100976541G>A	ENSP00000193391:p.His329Tyr		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.H329Y	ENST00000193391.7	37	c.985	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259453	0.80246	.	.	ENSG00000081148	ENST00000193391	T	0.32023	1.47	5.38	5.38	0.77491	SEA (2);	0.085634	0.50627	D	0.000118	T	0.52885	0.1762	L	0.59436	1.845	0.41702	D	0.989404	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.54159	-0.8335	10	0.66056	D	0.02	-8.5083	17.3142	0.87218	0.0:0.0:1.0:0.0	.	329;329	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Y	329	ENSP00000193391:H329Y	ENSP00000193391:H329Y	H	-	1	0	IMPG2	102459231	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.728000	0.62000	2.522000	0.85027	0.313000	0.20887	CAC	IMPG2	-	pfam_SEA,smart_SEA		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	G			100976541	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100976541	G	A	100976541	3	1	116	1	0	0	0	0	1	0	0	0	7749	1290	45	1	2780	1	IMPG2	3	100976541	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	2974181	100976541	97045889	49	17268										
SENP7	57337	genome.wustl.edu	37	chr3	101056409	101056409	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tttcttgtcaagcatttataGaaaaagctactaaaaatgtg	6	5	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:101056409G>C	ENST00000394095.2	-	17	2477	c.2424C>G	c.(2422-2424)ttC>ttG	p.F808L	SENP7_ENST00000348610.3_Missense_Mutation_p.F775L|SENP7_ENST00000394094.2_Missense_Mutation_p.F743L|SENP7_ENST00000314261.7_Missense_Mutation_p.F742L|SENP7_ENST00000394091.1_Missense_Mutation_p.F644L|SENP7_ENST00000358203.3_Missense_Mutation_p.F644L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	808	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCATTTATAGAAAAAGCTAC	0.289																																																	0													61	65	64					3																	101056409		2203	4299	6502	SO:0001583	missense	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2424C>G	3.37:g.101056409G>C	ENSP00000377655:p.Phe808Leu		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.F808L	ENST00000394095.2	37	c.2424	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233458	0.79688	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.68	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.89163	3.01	0.49687	D	0.999814	D;D;D;D	0.89917	1.0;0.999;1.0;0.986	D;D;D;D	0.91635	0.997;0.993;0.999;0.98	T	0.73458	-0.3976	10	0.87932	D	0	-9.3831	11.3123	0.49370	0.17:0.0:0.83:0.0	.	644;742;775;808	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	L	808;743;742;644;644;775	ENSP00000377655:F808L;ENSP00000377654:F743L;ENSP00000313624:F742L;ENSP00000377651:F644L;ENSP00000350936:F644L;ENSP00000342159:F775L	ENSP00000313624:F742L	F	-	3	2	SENP7	102539099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.593000	0.54001	1.391000	0.46566	0.655000	0.94253	TTC	SENP7	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.289	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	G	NM_020654		101056409	-1	no_errors	ENST00000394095	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101056409	G	C	101056409	3	2	116	1	0	0	0	0	1	0	0	0	14081	933	33	1	760	1	SENP7	3	101056409	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	79868	101056409	96966021	50	17269										
HHLA2	11148	genome.wustl.edu	37	chr3	108074109	108074109	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caacatggaagaaacagggtCtttggattctttttctatta	8	6	3	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:108074109C>G	ENST00000357759.5	+	5	980	c.566C>G	c.(565-567)tCt>tGt	p.S189C	HHLA2_ENST00000491820.1_Missense_Mutation_p.S189C|HHLA2_ENST00000489514.2_Missense_Mutation_p.S189C|HHLA2_ENST00000467761.1_Missense_Mutation_p.S189C|HHLA2_ENST00000467562.1_Missense_Mutation_p.S125C	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	189	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GAAACAGGGTCTTTGGATTCT	0.358																																																	0													96	91	93					3																	108074109		1853	4091	5944	SO:0001583	missense	11148			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.566C>G	3.37:g.108074109C>G	ENSP00000350402:p.Ser189Cys		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S189C	ENST00000357759.5	37	c.566	CCDS46883.1	3	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362676	0.41902	.	.	ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	T;T;T;T;T	0.03004	4.08;4.08;4.08;4.08;4.08	4.96	-0.608	0.11611	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.722768	0.11966	N	0.512235	T	0.07638	0.0192	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66847	0.947;0.947;0.947	T	0.34925	-0.9809	9	.	.	.	-21.2287	7.6215	0.28187	0.508:0.4091:0.0:0.0829	.	125;189;189	B4DKN2;C9J7D0;Q9UM44	.;.;HHLA2_HUMAN	C	189;125;189;189;189	ENSP00000418284:S189C;ENSP00000418345:S125C;ENSP00000350402:S189C;ENSP00000419207:S189C;ENSP00000417856:S189C	.	S	+	2	0	HHLA2	109556799	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.315000	0.08081	-0.347000	0.08299	0.655000	0.94253	TCT	HHLA2	-	pfam_Ig_C1-set,pfscan_Ig-like		0.358	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHLA2	HGNC	protein_coding	OTTHUMT00000353924.1	C	NM_007072		108074109	1	no_errors	ENST00000357759	ensembl	human	known	70_37	missense	SNP	0.000	G	G	108074109	C	G	108074109	3	3	116	1	0	0	0	0	1	0	0	0	7115	913	32	1	576	1	HHLA2	3	108074109	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	7017700	108074109	89948321	51	17270										
GOLGB1	2804	genome.wustl.edu	37	chr3	121409846	121409846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaaggcggtttcagaaagaaGagcatctctctctctgttta	9	8	4	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:121409846G>C	ENST00000340645.5	-	14	8475	c.8350C>G	c.(8350-8352)Ctt>Gtt	p.L2784V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2789V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2784					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCAGAAAGAAGAGCATCTCTC	0.413																																																	0													129	119	122					3																	121409846		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8350C>G	3.37:g.121409846G>C	ENSP00000341848:p.Leu2784Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L2784V	ENST00000340645.5	37	c.8350	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.172967	0.01646	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19105	2.17;2.17	4.08	2.28	0.28536	.	0.424599	0.19381	N	0.115657	T	0.25158	0.0611	N	0.22421	0.69	0.28455	N	0.916176	D;D;P	0.71674	0.998;0.996;0.946	D;D;P	0.83275	0.996;0.986;0.54	T	0.07214	-1.0784	10	0.29301	T	0.29	.	5.9635	0.19313	0.2374:0.0:0.7626:0.0	.	2789;2789;2784	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	2784;2789	ENSP00000341848:L2784V;ENSP00000377275:L2789V	ENSP00000341848:L2784V	L	-	1	0	GOLGB1	122892536	0.011000	0.17503	0.374000	0.26016	0.023000	0.10783	0.889000	0.28282	0.393000	0.25203	-0.218000	0.12543	CTT	GOLGB1	-	NULL		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	G	NM_004487		121409846	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.663	C	C	121409846	G	C	121409846	3	2	116	1	0	0	0	0	1	0	0	0	6584	942	33	1	1465	1	GOLGB1	3	121409846	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	13335737	121409846	76612584	52	17271										
GOLGB1	2804	genome.wustl.edu	37	chr3	121409951	121409951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atcaagttcctcattggcatGatctctactattttgcaagg	7	9	3	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:121409951G>C	ENST00000340645.5	-	14	8370	c.8245C>G	c.(8245-8247)Cat>Gat	p.H2749D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.H2754D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2749					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCATTGGCATGATCTCTACTA	0.393																																																	0													180	171	174					3																	121409951		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8245C>G	3.37:g.121409951G>C	ENSP00000341848:p.His2749Asp		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.H2749D	ENST00000340645.5	37	c.8245	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	7.633	0.679175	0.14907	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14266	2.52;2.52	5.72	4.8	0.61643	.	0.501288	0.20093	N	0.099395	T	0.11922	0.0290	L	0.57536	1.79	0.32684	N	0.51514	B;B;B	0.31625	0.082;0.082;0.332	B;B;B	0.27076	0.058;0.058;0.076	T	0.13150	-1.0520	10	0.15952	T	0.53	.	6.7483	0.23474	0.0864:0.0:0.6928:0.2209	.	2754;2754;2749	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	D	2749;2754	ENSP00000341848:H2749D;ENSP00000377275:H2754D	ENSP00000341848:H2749D	H	-	1	0	GOLGB1	122892641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.265000	0.58865	1.242000	0.43836	0.655000	0.94253	CAT	GOLGB1	-	NULL		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	G	NM_004487		121409951	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121409951	G	C	121409951	3	2	116	1	0	0	0	0	1	0	0	0	6584	1290	45	1	1570	1	GOLGB1	3	121409951	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	105	121409951	76612479	53	17272										
ITGB5	3693	genome.wustl.edu	37	chr3	124567329	124567329	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcatccttcatggacagggaGaggtccatcaggtagtacag	12	9	3	1	rs145464711		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:124567329G>C	ENST00000296181.4	-	4	734	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	146	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGGACAGGGAGAGGTCCATCA	0.562																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	117	101	106		438	4.6	1	3	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	ITGB5	NM_002213.3		0,1,6502	CC,CG,GG		0.0,0.0227,0.0077		146/800	124567329	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.438C>G	3.37:g.124567329G>C			B0LPF8|B2RD70	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L146	ENST00000296181.4	37	c.438	CCDS3030.1	3																																																																																			ITGB5	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu		0.562	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	G	NM_002213		124567329	-1	no_errors	ENST00000296181	ensembl	human	known	70_37	silent	SNP	1.000	C	C	124567329	G	C	124567329	2	2	116	1	0	0	0	0	0	0	0	1	7918	929	33	1		1	ITGB5	3	124567329	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3157378	124567329	73455101	54	17273										
HEG1	57493	genome.wustl.edu	37	chr3	124731854	124731854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgtgcttgacagggtgccagGagtggtcataagaggctgag	17	6	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:124731854G>A	ENST00000311127.4	-	6	2636	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	857					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGGGTGCCAGGAGTGGTCATA	0.502																																																	0													194	193	193					3																	124731854		2050	4210	6260	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2569C>T	3.37:g.124731854G>A	ENSP00000311502:p.Pro857Ser		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.P857S	ENST00000311127.4	37	c.2569	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334381	0.11013	.	.	ENSG00000173706	ENST00000311127	D	0.87491	-2.26	3.92	-0.659	0.11424	.	0.647951	0.12617	U	0.453381	T	0.79511	0.4458	M	0.66939	2.045	0.09310	N	1	B;B	0.20671	0.047;0.028	B;B	0.15484	0.013;0.006	T	0.60464	-0.7258	10	0.18710	T	0.47	.	1.3373	0.02148	0.236:0.1584:0.4436:0.162	.	857;857	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	S	857	ENSP00000311502:P857S	ENSP00000311502:P857S	P	-	1	0	HEG1	126214544	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.038000	0.13862	-0.133000	0.11537	0.561000	0.74099	CCT	HEG1	-	NULL		0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	G	XM_087386		124731854	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	missense	SNP	0.000	A	A	124731854	G	A	124731854	3	1	116	1	0	0	0	0	1	0	0	0	7064	1174	41	1	1624	1	HEG1	3	124731854	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	164525	124731854	73290576	55	17274										
SLC41A3	54946	genome.wustl.edu	37	chr3	125745256	125745256	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cttggcgacatccacttcctCtcgagacaccacgcccaaca	6	18	1	1	rs373931665		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:125745256C>G	ENST00000315891.6	-	5	758	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	SLC41A3_ENST00000346785.5_Missense_Mutation_p.E138Q|SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000383598.2_Missense_Mutation_p.E148Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.E174Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.E57Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCCACTTCCTCTCGAGACACC	0.612																																																	0													92	67	76					3																	125745256		2194	4291	6485	SO:0001583	missense	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.520G>C	3.37:g.125745256C>G	ENSP00000326070:p.Glu174Gln		A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase	p.E174Q	ENST00000315891.6	37	c.520	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	6.145	0.394987	0.11638	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835;ENST00000514677;ENST00000513723;ENST00000512470;ENST00000510651	T;T;T;T;T;T;T;T	0.32515	1.45;1.48;1.46;1.45;1.5;1.5;1.46;1.52	4.58	0.423	0.16463	MgtE magnesium transporter, integral membrane (1);	0.342406	0.32548	N	0.005953	T	0.10508	0.0257	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B;B	0.27853	0.011;0.028;0.034;0.191;0.116;0.005	B;B;B;B;B;B	0.30316	0.016;0.067;0.068;0.069;0.114;0.017	T	0.31943	-0.9925	10	0.18710	T	0.47	-9.1856	6.334	0.21287	0.0:0.5092:0.3044:0.1865	.	57;174;174;138;174;148	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	174;138;148;165;174;57;189;226;174;165	ENSP00000353533:E174Q;ENSP00000264471:E138Q;ENSP00000373092:E148Q;ENSP00000326070:E174Q;ENSP00000422828:E189Q;ENSP00000425373:E226Q;ENSP00000421008:E174Q;ENSP00000423524:E165Q	ENSP00000326070:E174Q	E	-	1	0	SLC41A3	127227946	0.698000	0.27777	0.105000	0.21289	0.003000	0.03518	2.488000	0.45276	0.174000	0.19809	0.491000	0.48974	GAG	SLC41A3	-	pfam_MgtE_Mg_transptr_membr		0.612	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	C	NM_017836		125745256	-1	no_errors	ENST00000315891	ensembl	human	known	70_37	missense	SNP	0.008	G	G	125745256	C	G	125745256	3	3	116	1	0	0	0	0	1	0	0	0	14661	922	32	1	1133	1	SLC41A3	3	125745256	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1013402	125745256	72277174	56	17275										
ISY1	57461	genome.wustl.edu	37	chr3	128852970	128852970	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttcctcctcttcctcctcctCttccttttctcctcttgcca	1	20	4	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:128852970C>T	ENST00000393295.3	-	9	927	c.610G>A	c.(610-612)Gag>Aag	p.E204K	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E204K|ISY1_ENST00000273541.8_Missense_Mutation_p.E226K|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393292.3_Missense_Mutation_p.R205K	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	204	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						tcctcctcctcttcctTTTCT	0.522																																																	0													116	119	118					3																	128852970		2020	4186	6206	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.610G>A	3.37:g.128852970C>T	ENSP00000376973:p.Glu204Lys		Q96IL2|Q9BT05	Missense_Mutation	SNP	pfam_Isy1	p.E226K	ENST00000393295.3	37	c.676	CCDS43149.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.33|18.33	3.600560|3.600560	0.66332|0.66332	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541|ENST00000393292	T|.	0.29917|.	1.55|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.171608|.	0.36519|.	N|.	0.002543|.	T|T	0.21145|0.21145	0.0509|0.0509	N|N	0.03608|0.03608	-0.345|-0.345	0.20489|0.20489	N|N	0.999891|0.999891	B;B;B|.	0.28933|.	0.228;0.009;0.005|.	B;B;B|.	0.27796|.	0.083;0.022;0.004|.	T|T	0.18241|0.18241	-1.0343|-1.0343	10|5	0.07030|.	T|.	0.85|.	.|.	15.1929|15.1929	0.73060|0.73060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	226;204;204|.	Q9ULR0-2;Q9ULR0;Q9ULR0-1|.	.;ISY1_HUMAN;.|.	K|K	204;204;226|205	ENSP00000273541:E226K|.	ENSP00000273541:E226K|.	E|R	-|-	1|2	0|0	ISY1|ISY1	130335660|130335660	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.417000|2.417000	0.44653|0.44653	2.650000|2.650000	0.89964|0.89964	0.585000|0.585000	0.79938|0.79938	GAG|AGA	ISY1	-	pfam_Isy1		0.522	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1	HGNC	protein_coding	OTTHUMT00000267856.1	C	NM_020701		128852970	-1	no_errors	ENST00000273541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128852970	C	T	128852970	3	4	116	1	0	0	0	0	1	0	0	0	7886	922	32	1	259	1	ISY1	3	128852970	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	3107714	128852970	69169460	57	17276										
ISY1	57461	genome.wustl.edu	37	chr3	128853782	128853782	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgagctcagcacgtgtctttCtgggaggaggaagagctata	14	7	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:128853782C>G	ENST00000393295.3	-	8	751	c.434G>C	c.(433-435)aGa>aCa	p.R145T	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.R145T|ISY1_ENST00000273541.8_Missense_Mutation_p.R167T|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393292.3_Missense_Mutation_p.R145T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	145					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						ACGTGTCTTTCTGGGAGGAGG	0.433																																																	0													99	97	98					3																	128853782		1971	4171	6142	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.434G>C	3.37:g.128853782C>G	ENSP00000376973:p.Arg145Thr		Q96IL2|Q9BT05	Missense_Mutation	SNP	pfam_Isy1	p.R167T	ENST00000393295.3	37	c.500	CCDS43149.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660695	0.88154	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.39787	1.06	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.986;0.988;0.991	T	0.77566	-0.2540	10	0.72032	D	0.01	.	14.1518	0.65389	0.0:1.0:0.0:0.0	.	167;145;145	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	T	145;145;167;83;145	ENSP00000273541:R167T	ENSP00000273541:R167T	R	-	2	0	ISY1	130336472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.816000	0.75247	2.466000	0.83321	0.467000	0.42956	AGA	ISY1	-	pfam_Isy1		0.433	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1	HGNC	protein_coding	OTTHUMT00000267856.1	C	NM_020701		128853782	-1	no_errors	ENST00000273541	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128853782	C	G	128853782	3	3	116	1	0	0	0	0	1	0	0	0	7886	913	32	1	439	1	ISY1	3	128853782	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	812	128853782	69168648	58	17277										
PLS1	5357	genome.wustl.edu	37	chr3	142423314	142423314	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttctgttgcaggtacacattGaatgtgttatcggatcttgg	11	6	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:142423314G>C	ENST00000337777.3	+	14	1728	c.1515G>C	c.(1513-1515)ttG>ttC	p.L505F	PLS1_ENST00000497002.1_Missense_Mutation_p.L505F|PLS1_ENST00000457734.2_Missense_Mutation_p.L505F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	505	Actin-binding 2.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GGTACACATTGAATGTGTTAT	0.294																																																	0													48	52	51					3																	142423314		2203	4295	6498	SO:0001583	missense	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1515G>C	3.37:g.142423314G>C	ENSP00000336831:p.Leu505Phe		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.L505F	ENST00000337777.3	37	c.1515	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010725	0.75046	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.96011	-3.88;-3.88;-3.88	5.31	5.31	0.75309	Calponin homology domain (1);	0.066042	0.64402	D	0.000009	D	0.95262	0.8463	M	0.74881	2.28	0.80722	D	1	P	0.52316	0.952	P	0.46585	0.521	D	0.95335	0.8433	10	0.87932	D	0	-10.6793	12.6628	0.56824	0.0762:0.0:0.9238:0.0	.	505	Q14651	PLSI_HUMAN	F	505	ENSP00000387890:L505F;ENSP00000336831:L505F;ENSP00000418700:L505F	ENSP00000336831:L505F	L	+	3	2	PLS1	143906004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.006000	0.57083	2.644000	0.89710	0.655000	0.94253	TTG	PLS1	-	superfamily_CH-domain		0.294	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	G	NM_002670		142423314	1	no_errors	ENST00000337777	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142423314	G	C	142423314	3	2	116	1	0	0	0	0	1	0	0	0	12131	1281	45	1	1565	1	PLS1	3	142423314	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	13569532	142423314	55599116	59	17278										
ZIC4	84107	genome.wustl.edu	37	chr3	147113918	147113918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaggctcggggtcgcggtgcCgtcggccgccagccacttgc	17	15	0	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:147113918C>T	ENST00000383075.3	-	3	921	c.409G>A	c.(409-411)Ggc>Agc	p.G137S	ZIC4_ENST00000425731.3_Missense_Mutation_p.G175S|ZIC4_ENST00000484399.1_Missense_Mutation_p.G137S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.G137S|ZIC4_ENST00000525172.2_Missense_Mutation_p.G187S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	137						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTCGCGGTGCCGTCGGCCGCC	0.657																																																	0													30	39	36					3																	147113918		2201	4299	6500	SO:0001583	missense	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.409G>A	3.37:g.147113918C>T	ENSP00000372553:p.Gly137Ser		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G187S	ENST00000383075.3	37	c.559	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	C	8.524	0.869509	0.17322	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.12255	2.88;2.82;2.82;2.88;2.88;2.7	3.81	-1.5	0.08691	.	0.431072	0.19334	N	0.116824	T	0.04770	0.0129	N	0.08118	0	0.20403	N	0.999903	B;B	0.14438	0.01;0.0	B;B	0.11329	0.006;0.001	T	0.26430	-1.0103	10	0.48119	T	0.1	.	1.1148	0.01712	0.159:0.2501:0.1565:0.4344	.	187;137	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	S	137;175;187;137;137;137	ENSP00000372553:G137S;ENSP00000397695:G175S;ENSP00000435509:G187S;ENSP00000417855:G137S;ENSP00000420775:G137S;ENSP00000420627:G137S	ENSP00000372553:G137S	G	-	1	0	ZIC4	148596608	0.001000	0.12720	0.008000	0.14137	0.621000	0.37620	-1.293000	0.02770	-0.325000	0.08577	0.511000	0.50034	GGC	ZIC4	-	NULL		0.657	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	C			147113918	-1	no_errors	ENST00000525172	ensembl	human	known	70_37	missense	SNP	0.053	T	T	147113918	C	T	147113918	3	4	116	1	0	0	0	0	1	0	0	0	17711	652	23	2	607	2	ZIC4	3	147113918	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	4690604	147113918	50908512	60	17279										
LEKR1	389170	genome.wustl.edu	37	chr3	156570671	156570671	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaaaagagatgaaattttatCaaggaagtgtagatcgtgaa	10	2	1	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:156570671C>T	ENST00000470811.1	+	0	277				LEKR1_ENST00000477399.1_Nonsense_Mutation_p.Q55*|LEKR1_ENST00000483177.1_Nonsense_Mutation_p.Q55*|LEKR1_ENST00000356539.4_Nonsense_Mutation_p.Q55*|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000498839.1_Nonsense_Mutation_p.Q55*|LEKR1_ENST00000491763.1_Nonsense_Mutation_p.Q55*			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAATTTTATCAAGGAAGTGT	0.333																																																	0													162	131	140					3																	156570671		692	1591	2283	SO:0001623	5_prime_UTR_variant	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-1059C>T	3.37:g.156570671C>T				Nonsense_Mutation	SNP	superfamily_Ribosomal_L29	p.Q55*	ENST00000470811.1	37	c.163		3	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874558	0.72180	.	.	ENSG00000197980;ENSG00000197980;ENSG00000197980;ENSG00000178110	ENST00000498839;ENST00000483177;ENST00000477399;ENST00000356539	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.8205	11.3823	0.49766	0.1254:0.6829:0.1917:0.0	.	.	.	.	X	55	.	.	Q	+	1	0	RP11-6F2.7;LEKR1	158053365	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.202000	0.51067	2.592000	0.87571	0.585000	0.79938	CAA	LEKR1	-	NULL		0.333	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	C	NM_001004316		156570671	1	no_errors	ENST00000356539	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	156570671	C	T	156570671	1	4	116	0	1	0	0	0	0	0	0	0	8737	827	29	1		1	LEKR1	3	156570671	5'UTR	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	9456753	156570671	41451759	61	17280										
NLGN1	22871	genome.wustl.edu	37	chr3	173322819	173322819	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	taacttggatgtggtttcatCatatgtgcaagaccagagcg	11	7	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:173322819C>T	ENST00000457714.1	+	3	860	c.431C>T	c.(430-432)tCa>tTa	p.S144L	NLGN1_ENST00000361589.4_Missense_Mutation_p.S144L|NLGN1_ENST00000401917.3_Missense_Mutation_p.S144L|NLGN1_ENST00000545397.1_Missense_Mutation_p.S144L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	144					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGGTTTCATCATATGTGCAA	0.398																																																	0													132	130	131					3																	173322819		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.431C>T	3.37:g.173322819C>T	ENSP00000392500:p.Ser144Leu		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.S144L	ENST00000457714.1	37	c.431	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075175	0.55646	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71461	0.41;0.41;-0.57;0.41;0.41	5.62	5.62	0.85841	.	0.086006	0.44688	D	0.000432	T	0.60715	0.2290	N	0.25094	0.71	0.52501	D	0.999952	B;B	0.16802	0.011;0.019	B;B	0.21360	0.034;0.013	T	0.53019	-0.8497	10	0.23302	T	0.38	.	20.0185	0.97487	0.0:1.0:0.0:0.0	.	144;144	D2X2H5;Q8N2Q7-2	.;.	L	144	ENSP00000392500:S144L;ENSP00000354541:S144L;ENSP00000410374:S144L;ENSP00000441108:S144L;ENSP00000385750:S144L	ENSP00000354541:S144L	S	+	2	0	NLGN1	174805513	1.000000	0.71417	0.775000	0.31657	0.965000	0.64279	7.445000	0.80570	2.809000	0.96659	0.467000	0.42956	TCA	NLGN1	-	pfam_CarbesteraseB		0.398	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	C	NM_014932		173322819	1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	0.968	T	T	173322819	C	T	173322819	3	4	116	1	0	0	0	0	1	0	0	0	10485	838	29	1	433	1	NLGN1	3	173322819	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	16752148	173322819	24699611	62	17281										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	116	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	5613272	178936091	19086339	63	17282										
IQCG	84223	genome.wustl.edu	37	chr3	197639564	197639564	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acctgctgctcctttctaagGaacatttcaatctctgtatg	6	11	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr3:197639564G>A	ENST00000265239.6	-	9	1369	c.945C>T	c.(943-945)ttC>ttT	p.F315F	IQCG_ENST00000455191.1_Silent_p.F315F	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	315						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CCTTTCTAAGGAACATTTCAA	0.428																																																	0													176	190	186					3																	197639564		2203	4300	6503	SO:0001819	synonymous_variant	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.945C>T	3.37:g.197639564G>A			Q9BST2|Q9HAG8	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.F315	ENST00000265239.6	37	c.945	CCDS3331.1	3																																																																																			IQCG	-	NULL		0.428	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	G	NM_032263		197639564	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	silent	SNP	1.000	A	A	197639564	G	A	197639564	2	1	116	1	0	0	0	0	0	0	0	1	7830	1165	41	1		1	IQCG	3	197639564	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	18703473	197639564	382866	64	17283										
ZNF595	152687	genome.wustl.edu	37	chr4	87250	87250	+	3'UTR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aattcatactggagagaaatCctacaaatgtgaagaatgtg	9	5	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:87250C>G	ENST00000339368.6	+	0	2059							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGAGAGAAATCCTACAAATGT	0.403																																																	0													38	42	41					4																	87250		2154	4268	6422	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*2056C>G	4.37:g.87250C>G				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.403	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	C	NM_182524		87250	1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	SNP	0.240	G	G	87250	C	G	87250	1	3	116	0	1	0	0	0	0	0	0	0	18055	855	30	1		1	ZNF595	4	87250	3'UTR	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		87250	191067026	65	17284										
PDE6B	5158	genome.wustl.edu	37	chr4	657657	657657	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acggacctggccctgtacttCaagtgcgcgccttccgggag	13	14	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:657657C>T	ENST00000496514.1	+	16	2040	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	PDE6B_ENST00000429163.2_Silent_p.F394F|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.F673F			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	673					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCCTGTACTTCAAGTGCGCGC	0.706																																					GBM(71;463 1194 9848 25922 46834)												0													36	36	36					4																	657657		2202	4300	6502	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2019C>T	4.37:g.657657C>T			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.F673	ENST00000496514.1	37	c.2019	CCDS33932.1	4																																																																																			PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.706	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	C	NM_000283		657657	1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	1.000	T	T	657657	C	T	657657	2	4	116	1	0	0	0	0	0	0	0	1	11670	825	29	1		1	PDE6B	4	657657	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	570407	657657	190496619	66	17285										
MFSD10	10227	genome.wustl.edu	37	chr4	2934873	2934873	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggcgcctccccaagcagtcaGaggtggccccagtgagtggc	15	14	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:2934873G>A	ENST00000329687.4	-	3	866	c.332C>T	c.(331-333)tCt>tTt	p.S111F	MFSD10_ENST00000508221.1_Missense_Mutation_p.S111F|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.S111F|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.S111F|MFSD10_ENST00000514800.1_Missense_Mutation_p.S111F|NOP14-AS1_ENST00000515194.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	111					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGCAGTCAGAGGTGGCCCC	0.632																																																	0													46	47	47					4																	2934873		2200	4300	6500	SO:0001583	missense	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.332C>T	4.37:g.2934873G>A	ENSP00000332646:p.Ser111Phe		Q07706	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S111F	ENST00000329687.4	37	c.332	CCDS3365.1	4	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118768	0.56505	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	4.19	4.19	0.49359	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88410	0.3021	10	0.87932	D	0	-13.4298	15.4478	0.75243	0.0:0.0:1.0:0.0	.	111;111;111;111	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	F	111	ENSP00000426907:S111F;ENSP00000347619:S111F;ENSP00000332646:S111F;ENSP00000425757:S111F;ENSP00000423402:S111F	ENSP00000332646:S111F	S	-	2	0	MFSD10	2904671	1.000000	0.71417	0.290000	0.24890	0.168000	0.22595	8.622000	0.90953	2.175000	0.68902	0.561000	0.74099	TCT	MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	G	NM_001120		2934873	-1	no_errors	ENST00000329687	ensembl	human	known	70_37	missense	SNP	0.927	A	A	2934873	G	A	2934873	3	1	116	1	0	0	0	0	1	0	0	0	9551	942	33	1	1075	1	MFSD10	4	2934873	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	2277216	2934873	188219403	67	17286										
HTT	3064	genome.wustl.edu	37	chr4	3213737	3213737	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gccagaagagtgccctttttGaagcagcccgtgaggtgact	13	10	0	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:3213737G>A	ENST00000355072.5	+	48	6641	c.6496G>A	c.(6496-6498)Gaa>Aaa	p.E2166K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2166					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCCCTTTTTGAAGCAGCCCG	0.562																																																	0													76	80	79					4																	3213737		1968	4170	6138	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6496G>A	4.37:g.3213737G>A	ENSP00000347184:p.Glu2166Lys		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E2166K	ENST00000355072.5	37	c.6496	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325296	0.41197	.	.	ENSG00000197386	ENST00000355072	T	0.05081	3.5	5.73	4.89	0.63831	.	0.108238	0.64402	N	0.000007	T	0.04363	0.0120	N	0.24115	0.695	0.45150	D	0.998162	B	0.16166	0.016	B	0.13407	0.009	T	0.29212	-1.0019	10	0.07990	T	0.79	.	10.8113	0.46549	0.1439:0.0:0.8561:0.0	.	2166	P42858	HD_HUMAN	K	2166	ENSP00000347184:E2166K	ENSP00000347184:E2166K	E	+	1	0	HTT	3183535	1.000000	0.71417	0.553000	0.28255	0.729000	0.41735	6.244000	0.72391	1.421000	0.47157	0.655000	0.94253	GAA	HTT	-	NULL		0.562	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3213737	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3213737	G	A	3213737	3	1	116	1	0	0	0	0	1	0	0	0	7477	1291	45	1	6686	1	HTT	4	3213737	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	278864	3213737	187940539	68	17287										
PKD2	5311	genome.wustl.edu	37	chr4	88959628	88959628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcagtagtgaagatagggctCcctttgggccccgaaatgga	13	9	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:88959628C>T	ENST00000237596.2	+	4	1135	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGATAGGGCTCCCTTTGGGCC	0.458																																																	0													89	92	91					4																	88959628		2203	4300	6503	SO:0001583	missense	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1069C>T	4.37:g.88959628C>T	ENSP00000237596:p.Pro357Ser		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1	p.P357S	ENST00000237596.2	37	c.1069	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667199	0.47677	.	.	ENSG00000118762	ENST00000237596	T	0.69685	-0.42	5.75	5.75	0.90469	Polycystin cation channel, PKD1/PKD2 (1);	0.108387	0.64402	D	0.000004	T	0.57562	0.2062	L	0.28504	0.86	0.80722	D	1	B	0.32968	0.392	B	0.30401	0.115	T	0.54036	-0.8353	10	0.31617	T	0.26	-15.1818	19.9598	0.97242	0.0:1.0:0.0:0.0	.	357	Q13563	PKD2_HUMAN	S	357	ENSP00000237596:P357S	ENSP00000237596:P357S	P	+	1	0	PKD2	89178652	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	3.831000	0.55776	2.716000	0.92895	0.655000	0.94253	CCC	PKD2	-	pfam_PKD1_2_channel		0.458	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4	C	NM_000297		88959628	1	no_errors	ENST00000237596	ensembl	human	known	70_37	missense	SNP	0.999	T	T	88959628	C	T	88959628	3	4	116	1	0	0	0	0	1	0	0	0	11990	855	30	1	1083	1	PKD2	4	88959628	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	85745891	88959628	102194648	69	17288										
PKD2	5311	genome.wustl.edu	37	chr4	88986631	88986631	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agttaaactttgacgaacttCgacaagatctcaaagggtga	9	7	1	3	rs121918040		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:88986631C>T	ENST00000508588.1	+	6	873	c.478C>T	c.(478-480)Cga>Tga	p.R160*	PKD2_ENST00000502363.1_Nonsense_Mutation_p.R160*|PKD2_ENST00000237596.2_Nonsense_Mutation_p.R742*|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R742*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGACGAACTTCGACAAGATCT	0.403																																																	1	Substitution - Nonsense(1)	endometrium(1)	GRCh37	CM961124	PKD2	M	rs121918040						86	82	83					4																	88986631		2203	4300	6503	SO:0001587	stop_gained	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.478C>T	4.37:g.88986631C>T	ENSP00000427131:p.Arg160*		Q8TB08|Q9P0T6|Q9Y3X8	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1	p.R742*	ENST00000508588.1	37	c.2224		4	.	.	.	.	.	.	.	.	.	.	C	41	8.974909	0.99023	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	.	.	.	5.89	5.05	0.67936	.	0.062020	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2108	14.8891	0.70594	0.0:0.9315:0.0:0.0685	.	.	.	.	X	742;160;160	.	ENSP00000237596:R742X	R	+	1	2	PKD2	89205655	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.802000	0.69122	1.497000	0.48584	0.655000	0.94253	CGA	PKD2	-	NULL		0.403	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000363253.2	C	NM_000297		88986631	1	no_errors	ENST00000237596	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	88986631	C	T	88986631	4	4	116	1	0	0	0	0	0	1	0	0	11990	876	31	1	2266	1	PKD2	4	88986631	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	27003	88986631	102167645	70	17289										
ATOH1	474	genome.wustl.edu	37	chr4	94750328	94750328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgcccagtatttgctacattCcccggagctgggtgcctcag	11	14	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:94750328C>T	ENST00000306011.3	+	1	287	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	84					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TTGCTACATTCCCCGGAGCTG	0.701																																																	0													16	19	18					4																	94750328		2197	4292	6489	SO:0001583	missense	474			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.251C>T	4.37:g.94750328C>T	ENSP00000302216:p.Ser84Phe		Q14CT9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S84F	ENST00000306011.3	37	c.251	CCDS3638.1	4	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395131	0.62066	.	.	ENSG00000172238	ENST00000306011	D	0.98249	-4.82	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	N	0.24115	0.695	0.39400	D	0.966571	P	0.36733	0.567	B	0.42343	0.384	D	0.96975	0.9711	10	0.66056	D	0.02	-13.5908	14.0965	0.65027	0.0:1.0:0.0:0.0	.	84	Q92858	ATOH1_HUMAN	F	84	ENSP00000302216:S84F	ENSP00000302216:S84F	S	+	2	0	ATOH1	94969351	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.492000	0.60334	2.164000	0.68074	0.478000	0.44815	TCC	ATOH1	-	NULL		0.701	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	HGNC	protein_coding	OTTHUMT00000253585.1	C	NM_005172		94750328	1	no_errors	ENST00000306011	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94750328	C	T	94750328	3	4	116	1	0	0	0	0	1	0	0	0	1113	855	30	1	253	1	ATOH1	4	94750328	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	5763697	94750328	96403948	71	17290										
TET2	54790	genome.wustl.edu	37	chr4	106157383	106157383	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaatactccagacttttcctCacccccaaagcaacaatgat	3	14	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:106157383C>T	ENST00000540549.1	+	3	3144	c.2284C>T	c.(2284-2286)Cac>Tac	p.H762Y	TET2_ENST00000380013.4_Missense_Mutation_p.H762Y|TET2_ENST00000413648.2_Missense_Mutation_p.H762Y|TET2_ENST00000305737.2_Missense_Mutation_p.H762Y|TET2_ENST00000545826.1_Missense_Mutation_p.H762Y|TET2_ENST00000394764.1_Missense_Mutation_p.H762Y|TET2_ENST00000513237.1_Missense_Mutation_p.H783Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	762	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACTTTTCCTCACCCCCAAAG	0.383			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													62	66	64					4																	106157383		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2284C>T	4.37:g.106157383C>T	ENSP00000442788:p.His762Tyr		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.H762Y	ENST00000540549.1	37	c.2284	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087306	0.36855	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.04654	3.58;4.3;3.58;4.29;4.3;3.58;3.59	5.63	3.9	0.45041	.	.	.	.	.	T	0.07548	0.0190	N	0.24115	0.695	0.25488	N	0.987673	P;P;D	0.53885	0.895;0.895;0.963	B;B;P	0.52424	0.328;0.328;0.698	T	0.24584	-1.0156	9	0.87932	D	0	.	10.8237	0.46620	0.1311:0.8015:0.0:0.0674	.	783;762;762	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	Y	762;762;762;783;762;762;762	ENSP00000306705:H762Y;ENSP00000442788:H762Y;ENSP00000442867:H762Y;ENSP00000425443:H783Y;ENSP00000369351:H762Y;ENSP00000378245:H762Y;ENSP00000391448:H762Y	ENSP00000265149:H762Y	H	+	1	0	TET2	106376832	0.898000	0.30612	0.071000	0.20095	0.791000	0.44710	1.698000	0.37794	0.729000	0.32403	-0.181000	0.13052	CAC	TET2	-	NULL		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106157383	1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	0.961	T	T	106157383	C	T	106157383	3	4	116	1	0	0	0	0	1	0	0	0	15800	826	29	1	2286	1	TET2	4	106157383	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	11407055	106157383	84996893	72	17291										
C4orf21	55345	genome.wustl.edu	37	chr4	113538800	113538800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttctctggcagtttcaacctCaacatggtcagggggtggac	12	10	4	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:113538800C>G	ENST00000505019.1	-	6	2523	c.2398G>C	c.(2398-2400)Gag>Cag	p.E800Q	C4orf21_ENST00000309071.5_Missense_Mutation_p.E800Q|C4orf21_ENST00000445203.2_Missense_Mutation_p.E769Q	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		800						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		GTTTCAACCTCAACATGGTCA	0.388																																																	0													78	71	74					4																	113538800		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.2398G>C	4.37:g.113538800C>G	ENSP00000424737:p.Glu800Gln		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.E800Q	ENST00000505019.1	37	c.2398		4	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761735	0.31228	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83250	-1.7;1.81;1.39	5.98	4.0	0.46444	.	0.471978	0.20005	N	0.101248	D	0.82300	0.5007	L	0.47716	1.5	0.09310	N	1	D;D	0.53619	0.961;0.96	P;P	0.52758	0.708;0.55	T	0.73946	-0.3822	10	0.66056	D	0.02	-7.5699	7.9738	0.30143	0.0:0.7296:0.0:0.2704	.	800;800	Q86YA3;G5EA02	CD021_HUMAN;.	Q	800;800;769	ENSP00000424737:E800Q;ENSP00000309095:E800Q;ENSP00000390505:E769Q	ENSP00000309095:E800Q	E	-	1	0	C4orf21	113758249	0.001000	0.12720	0.014000	0.15608	0.025000	0.11179	0.069000	0.14552	1.510000	0.48803	0.655000	0.94253	GAG	C4orf21	-	NULL		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113538800	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.004	G	G	113538800	C	G	113538800	3	3	116	1	0	0	0	0	1	0	0	0	2259	835	29	1	4008	1	C4orf21	4	113538800	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	7381417	113538800	77615476	73	17292										
NAA15	80155	genome.wustl.edu	37	chr4	140309101	140309101	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gagactgtaaagaagctgctGaaatttatagagcaaattgt	10	4	0	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:140309101G>A	ENST00000296543.5	+	20	2787	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NAA15_ENST00000515576.1_Intron|NAA15_ENST00000398947.1_Missense_Mutation_p.E821K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	822	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAAGCTGCTGAAATTTATAG	0.383																																																	0													152	133	139					4																	140309101		1827	4088	5915	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2464G>A	4.37:g.140309101G>A	ENSP00000296543:p.Glu822Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E822K	ENST00000296543.5	37	c.2464	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109868	0.37242	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.46063	0.88;0.88	6.16	5.33	0.75918	.	0.231594	0.41823	D	0.000801	T	0.44644	0.1303	M	0.69358	2.11	0.80722	D	1	B	0.29085	0.232	B	0.30029	0.11	T	0.35500	-0.9786	10	0.36615	T	0.2	-0.0748	15.5553	0.76187	0.0656:0.0:0.9344:0.0	.	822	Q9BXJ9	NAA15_HUMAN	K	822;696;821	ENSP00000296543:E822K;ENSP00000381920:E821K	ENSP00000296543:E822K	E	+	1	0	NAA15	140528551	1.000000	0.71417	0.983000	0.44433	0.776000	0.43924	9.476000	0.97823	1.628000	0.50416	0.650000	0.86243	GAA	NAA15	-	NULL		0.383	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140309101	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140309101	G	A	140309101	3	1	116	1	0	0	0	0	1	0	0	0	10141	1291	45	1	2542	1	NAA15	4	140309101	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	26770301	140309101	50845175	74	17293										
MAML3	55534	genome.wustl.edu	37	chr4	140811335	140811335	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtgggcttggtttggagtttGaggggactggacagcacagt	18	5	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:140811335G>C	ENST00000509479.2	-	2	2111	c.1255C>G	c.(1255-1257)Caa>Gaa	p.Q419E	MAML3_ENST00000327122.5_Missense_Mutation_p.Q263E|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TTTGGAGTTTGAGGGGACTGG	0.572																																																	0													124	121	122					4																	140811335		2110	4235	6345	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1255C>G	4.37:g.140811335G>C	ENSP00000421180:p.Gln419Glu			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q419E	ENST00000509479.2	37	c.1255	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834091	0.32421	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.65	5.65	0.86999	.	0.127518	0.53938	D	0.000059	T	0.20292	0.0488	L	0.36672	1.1	0.80722	D	1	P	0.38195	0.622	B	0.35182	0.197	T	0.03566	-1.1024	10	0.05436	T	0.98	.	19.7207	0.96142	0.0:0.0:1.0:0.0	.	419	Q96JK9	MAML3_HUMAN	E	419;263	ENSP00000421180:Q419E	ENSP00000313316:Q263E	Q	-	1	0	MAML3	141030785	1.000000	0.71417	0.451000	0.26982	0.829000	0.46940	7.225000	0.78051	2.647000	0.89833	0.650000	0.86243	CAA	MAML3	-	NULL		0.572	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	G			140811335	-1	no_errors	ENST00000509479	ensembl	human	known	70_37	missense	SNP	0.998	C	C	140811335	G	C	140811335	3	2	116	1	0	0	0	0	1	0	0	0	9230	1299	45	1	2169	1	MAML3	4	140811335	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	502234	140811335	50342941	75	17294										
RPS3A	6189	genome.wustl.edu	37	chr4	152022192	152022192	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttgctgatttgcagaatgatGaagttgcatttagaaaattc	9	4	0	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:152022192G>A	ENST00000274065.4	+	3	312	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	RPS3A_ENST00000506126.1_Missense_Mutation_p.E41K|SNORD73_ENST00000364394.1_RNA|SNORD73A_ENST00000386062.1_RNA|RPS3A_ENST00000514682.1_Missense_Mutation_p.E41K|RPS3A_ENST00000512690.1_Missense_Mutation_p.E78K|RPS3A_ENST00000322686.6_Missense_Mutation_p.E65K|RPS3A_ENST00000509736.1_Intron	NM_001006.4	NP_000997.1			ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCAGAATGATGAAGTTGCATT	0.373																																																	0													43	45	45					4																	152022192		2160	4271	6431	SO:0001583	missense	6189			X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"S ribosomal proteins"	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000274065.4:c.232G>A	4.37:g.152022192G>A	ENSP00000346050:p.Glu78Lys			Missense_Mutation	SNP	pfam_Ribosomal_S3Ae	p.E78K	ENST00000274065.4	37	c.232	CCDS3775.1	4	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637649	0.87760	.	.	ENSG00000145425	ENST00000274065;ENST00000505243;ENST00000514682;ENST00000322686;ENST00000503002;ENST00000508783;ENST00000507327;ENST00000506126;ENST00000510993	.	.	.	5.54	4.69	0.59074	.	0.000000	0.34555	N	0.003871	T	0.72463	0.3463	M	0.86953	2.85	0.80722	D	1	P	0.40144	0.704	B	0.43701	0.428	T	0.77803	-0.2451	9	0.62326	D	0.03	.	15.8379	0.78814	0.0:0.0:0.8632:0.1368	.	78	P61247	RS3A_HUMAN	K	78;41;41;65;41;41;41;41;58	.	ENSP00000346050:E78K	E	+	1	0	RPS3A	152241642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.857000	0.99534	1.331000	0.45412	0.555000	0.69702	GAA	RPS3A	-	pfam_Ribosomal_S3Ae		0.373	RPS3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS3A	HGNC	protein_coding	OTTHUMT00000364957.1	G			152022192	1	no_errors	ENST00000274065	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152022192	G	A	152022192	3	1	116	1	0	0	0	0	1	0	0	0	13674	1291	45	1	242	1	RPS3A	4	152022192	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	11210857	152022192	39132084	76	17295										
SH3RF1	57630	genome.wustl.edu	37	chr4	170038882	170038882	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atggtcactccccgacttgtCtggccagctgtagacatagg	11	12	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr4:170038882C>G	ENST00000284637.9	-	9	1910	c.1569G>C	c.(1567-1569)caG>caC	p.Q523H	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	523	Interaction with AKT2. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCCGACTTGTCTGGCCAGCTG	0.567																																																	0													49	48	48					4																	170038882		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1569G>C	4.37:g.170038882C>G	ENSP00000284637:p.Gln523His		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.Q523H	ENST00000284637.9	37	c.1569	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899226	0.33535	.	.	ENSG00000154447	ENST00000284637	T	0.14022	2.54	5.72	3.98	0.46160	Src homology-3 domain (1);	0.107657	0.64402	D	0.000004	T	0.14527	0.0351	L	0.52573	1.65	0.40271	D	0.978283	D	0.56521	0.976	P	0.47744	0.556	T	0.16630	-1.0396	10	0.14656	T	0.56	-10.9323	7.6051	0.28097	0.0:0.6974:0.0:0.3026	.	523	Q7Z6J0	SH3R1_HUMAN	H	523	ENSP00000284637:Q523H	ENSP00000284637:Q523H	Q	-	3	2	SH3RF1	170275457	0.992000	0.36948	0.163000	0.22734	0.130000	0.20726	0.855000	0.27805	0.751000	0.32900	0.561000	0.74099	CAG	SH3RF1	-	superfamily_SH3_domain		0.567	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	C	NM_020870		170038882	-1	no_errors	ENST00000284637	ensembl	human	known	70_37	missense	SNP	0.799	G	G	170038882	C	G	170038882	3	3	116	1	0	0	0	0	1	0	0	0	14288	912	32	1	1113	1	SH3RF1	4	170038882	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	18016690	170038882	21115394	77	17296										
PRDM9	56979	genome.wustl.edu	37	chr5	23509646	23509646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atgggcagagatgggagactGggagaaaactcgctatagga	16	5	0	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:23509646G>A	ENST00000296682.3	+	3	319	c.137G>A	c.(136-138)tGg>tAg	p.W46*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	46	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGGGAGACTGGGAGAAAACT	0.423										HNSCC(3;0.000094)																																							0													209	193	198					5																	23509646		1877	4119	5996	SO:0001587	stop_gained	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.137G>A	5.37:g.23509646G>A	ENSP00000296682:p.Trp46*		B4DX22|Q27Q50	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.W46*	ENST00000296682.3	37	c.137	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529438	0.85706	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	.	.	.	2.93	2.05	0.26809	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8737	5.9904	0.19458	0.1503:0.0:0.8497:0.0	.	.	.	.	X	46	.	ENSP00000296682:W46X	W	+	2	0	PRDM9	23545403	1.000000	0.71417	0.992000	0.48379	0.819000	0.46315	2.587000	0.46128	0.802000	0.34089	-0.192000	0.12808	TGG	PRDM9	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23509646	1	no_errors	ENST00000296682	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	23509646	G	A	23509646	4	1	116	1	0	0	0	0	0	1	0	0	12490	1357	47	4	143	4	PRDM9	5	23509646	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		23509646	157405614	78	17297										
ERBB2IP	55914	genome.wustl.edu	37	chr5	65338985	65338985	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agcgggctcaagttgcatttGaatgtgatgaagacaaagat	12	5	1	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:65338985G>C	ENST00000284037.5	+	16	1776	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E463Q|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	463					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGTTGCATTTGAATGTGATGA	0.363																																																	0													91	87	88					5																	65338985		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1387G>C	5.37:g.65338985G>C	ENSP00000284037:p.Glu463Gln		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E463Q	ENST00000284037.5	37	c.1387	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760676	0.89932	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.48	5.48	0.80851	.	0.044361	0.85682	D	0.000000	T	0.52533	0.1740	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P;P;B	0.42409	0.688;0.008;0.779;0.266;0.693;0.558;0.223	P;B;P;B;B;P;B	0.51170	0.661;0.047;0.579;0.216;0.389;0.579;0.309	T	0.53129	-0.8482	10	0.62326	D	0.03	.	19.7083	0.96083	0.0:0.0:1.0:0.0	.	463;463;463;463;463;463;463	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	Q	463	ENSP00000284037:E463Q;ENSP00000370330:E463Q;ENSP00000370326:E463Q;ENSP00000370323:E463Q;ENSP00000370322:E463Q;ENSP00000370325:E463Q;ENSP00000422766:E463Q;ENSP00000426632:E463Q;ENSP00000422015:E463Q	ENSP00000284037:E463Q	E	+	1	0	ERBB2IP	65374741	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.388000	0.97237	2.745000	0.94114	0.555000	0.69702	GAA	ERBB2IP	-	NULL		0.363	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65338985	1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65338985	G	C	65338985	3	2	116	1	0	0	0	0	1	0	0	0	5219	1291	45	1	1441	1	ERBB2IP	5	65338985	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	41829339	65338985	115576275	79	17298										
CDK7	1022	genome.wustl.edu	37	chr5	68530841	68530841	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tctcgggcaaagcgttatgaGaagctggacttccttgggga	14	8	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:68530841G>A	ENST00000256443.3	+	1	142	c.39G>A	c.(37-39)gaG>gaA	p.E13E	CDK7_ENST00000514676.1_Silent_p.E13E|CDK7_ENST00000502604.1_5'Flank	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	13	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGCGTTATGAGAAGCTGGACT	0.622								Nucleotide excision repair (NER)																																									0													29	26	27					5																	68530841		2202	4299	6501	SO:0001819	synonymous_variant	1022				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.39G>A	5.37:g.68530841G>A			Q9BS60|Q9UE19	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E13	ENST00000256443.3	37	c.39	CCDS3999.1	5																																																																																			CDK7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.622	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK7	HGNC	protein_coding	OTTHUMT00000216802.3	G	NM_001799		68530841	1	no_errors	ENST00000256443	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68530841	G	A	68530841	2	1	116	1	0	0	0	0	0	0	0	1	3154	933	33	1		1	CDK7	5	68530841	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3191856	68530841	112384419	80	17299										
CAST	831	genome.wustl.edu	37	chr5	96066545	96066545	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgctggtatcactgcaatatCtggcaagccgggtgacaagg	13	9	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:96066545C>T	ENST00000341926.3	+	7	524	c.362C>T	c.(361-363)tCt>tTt	p.S121F	CAST_ENST00000511049.1_Missense_Mutation_p.S107F|CAST_ENST00000511782.1_Missense_Mutation_p.S107F|CAST_ENST00000508608.1_Missense_Mutation_p.S167F|CAST_ENST00000504465.1_Intron|CAST_ENST00000508830.1_Missense_Mutation_p.S204F|CAST_ENST00000325674.7_Missense_Mutation_p.S182F|CAST_ENST00000309190.5_Missense_Mutation_p.S99F|CAST_ENST00000509903.1_Missense_Mutation_p.S99F|CAST_ENST00000395813.1_Missense_Mutation_p.S204F|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000510756.1_Missense_Mutation_p.S182F|CAST_ENST00000359176.4_Missense_Mutation_p.S185F|CAST_ENST00000338252.3_Missense_Mutation_p.S121F|CAST_ENST00000395812.2_Missense_Mutation_p.S163F			P20810	ICAL_HUMAN	calpastatin	121					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ACTGCAATATCTGGCAAGCCG	0.453																																																	0													151	134	140					5																	96066545		2203	4300	6503	SO:0001583	missense	831			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.362C>T	5.37:g.96066545C>T	ENSP00000339914:p.Ser121Phe		B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	pfam_Prot_inh_calpain	p.S204F	ENST00000341926.3	37	c.611		5	.	.	.	.	.	.	.	.	.	.	c	14.80	2.642640	0.47153	.	.	ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000514845;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000509903;ENST00000511782	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;2.07;2.09;2.01;2.09;2.07;2.07;2.09;0.79;2.1;2.09;2.09;2.09;2.1;2.09;2.07;2.09	5.02	3.22	0.36961	.	1.001760	0.08050	N	0.996445	T	0.64294	0.2585	M	0.61703	1.905	0.09310	N	1	P;D;D;D;D;D;P;D;D;P;D	0.71674	0.846;0.979;0.967;0.993;0.957;0.993;0.946;0.998;0.994;0.946;0.985	B;P;P;P;P;P;P;D;D;P;P	0.77004	0.365;0.89;0.851;0.858;0.854;0.858;0.704;0.929;0.989;0.771;0.898	T	0.44877	-0.9299	10	0.59425	D	0.04	0.1433	8.0548	0.30598	0.0:0.8132:0.0:0.1868	.	167;99;99;80;121;182;163;185;182;204;121	B7Z468;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	F	199;121;204;182;204;185;182;163;185;182;148;167;121;107;99;121;99;107	ENSP00000422957:S199F;ENSP00000343421:S121F;ENSP00000425721:S204F;ENSP00000422951:S182F;ENSP00000379158:S204F;ENSP00000352098:S185F;ENSP00000320319:S182F;ENSP00000379157:S163F;ENSP00000396558:S185F;ENSP00000422176:S182F;ENSP00000422677:S167F;ENSP00000339914:S121F;ENSP00000421130:S107F;ENSP00000312523:S99F;ENSP00000422325:S121F;ENSP00000426946:S99F;ENSP00000423638:S107F	ENSP00000312523:S99F	S	+	2	0	CAST	96092301	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.326000	0.33735	0.797000	0.33971	0.651000	0.88453	TCT	CAST	-	NULL		0.453	CAST-004	KNOWN	basic	protein_coding	CAST	HGNC	protein_coding	OTTHUMT00000250199.2	C	NM_173062		96066545	1	no_errors	ENST00000395813	ensembl	human	known	70_37	missense	SNP	0.001	T	T	96066545	C	T	96066545	3	4	116	1	0	0	0	0	1	0	0	0	2689	913	32	1	645	1	CAST	5	96066545	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	27535704	96066545	84848715	81	17300										
CD74	972	genome.wustl.edu	37	chr5	149784289	149784289	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgctccaaggagtgcctgctCatttcaaacaggagccaatg	10	11	2	0	rs375690781		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:149784289C>G	ENST00000009530.7	-	6	580	c.579G>C	c.(577-579)atG>atC	p.M193I	CD74_ENST00000377795.3_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.M193I			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	193					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCCTGCTCATTTCAAACA	0.577			T	ROS1	NSCLC																																			Dom	yes		5	5q32	972	"CD74 molecule, major histocompatibility complex, class II invariant chain"		E	0													49	51	51					5																	149784289		1970	4150	6120	SO:0001583	missense	972				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.579G>C	5.37:g.149784289C>G	ENSP00000009530:p.Met193Ile		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain	p.M193I	ENST00000009530.7	37	c.579	CCDS47309.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.578491|4.578491	0.86645|0.86645	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000518797|ENST00000353334;ENST00000009530	.|T	.|0.62639	.|0.01	5.56|5.56	5.56|5.56	0.83823|0.83823	.|MHC class II-associated invariant chain, trimerisation (3);Thyroglobulin type-1 (1);	.|0.245131	.|0.52532	.|D	.|0.000061	T|T	0.78947|0.78947	0.4364|0.4364	M|M	0.74881|0.74881	2.28|2.28	0.50632|0.50632	D|D	0.999889|0.999889	.|D;P;D;D	.|0.63046	.|0.969;0.794;0.992;0.985	.|D;B;D;D	.|0.72338	.|0.968;0.406;0.91;0.977	T|T	0.80777|0.80777	-0.1231|-0.1231	5|10	.|0.72032	.|D	.|0.01	-18.8627|-18.8627	16.4355|16.4355	0.83873|0.83873	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|193;193;193;105	.|A9YLN4;P04233-2;P04233;B4DUJ2	.|.;.;HG2A_HUMAN;.	Q|I	188|193	.|ENSP00000009530:M193I	.|ENSP00000009530:M193I	E|M	-|-	1|3	0|0	CD74|CD74	149764482|149764482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	5.014000|5.014000	0.64029|0.64029	2.619000|2.619000	0.88677|0.88677	0.491000|0.491000	0.48974|0.48974	GAG|ATG	CD74	-	pfam_MHC_II-assoc_invariant_trimer,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain		0.577	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD74	HGNC	protein_coding	OTTHUMT00000374178.1	C	NM_004355		149784289	-1	no_errors	ENST00000009530	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149784289	C	G	149784289	3	3	116	1	0	0	0	0	1	0	0	0	3040	826	29	1	327	1	CD74	5	149784289	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	53717744	149784289	31130971	82	17301										
SLIT3	6586	genome.wustl.edu	37	chr5	168123399	168123399	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acagtcatctgggttgatctCacaccgctgcccctcaaagc	8	15	4	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:168123399C>T	ENST00000519560.1	-	28	3399	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E994K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1001K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	994	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		E -> G (in dbSNP:rs2305993).		apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGTTGATCTCACACCGCTGC	0.577																																					Ovarian(29;311 847 10864 17279 24903)												0													190	153	166					5																	168123399		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2980G>A	5.37:g.168123399C>T	ENSP00000430333:p.Glu994Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E994K	ENST00000519560.1	37	c.2980	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.134987	0.94517	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91631	-2.88;-2.88;-2.88	5.31	5.31	0.75309	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.86097	2.795	0.80722	D	1	B	0.33549	0.417	B	0.35813	0.211	D	0.93693	0.7009	10	0.72032	D	0.01	.	19.0167	0.92897	0.0:1.0:0.0:0.0	.	994	O75094	SLIT3_HUMAN	K	994;1001;994	ENSP00000430333:E994K;ENSP00000332164:E1001K;ENSP00000384890:E994K	ENSP00000332164:E1001K	E	-	1	0	SLIT3	168055977	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.668000	0.83897	2.484000	0.83849	0.655000	0.94253	GAG	SLIT3	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168123399	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168123399	C	T	168123399	3	4	116	1	0	0	0	0	1	0	0	0	14771	835	29	1	1627	1	SLIT3	5	168123399	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	18339110	168123399	12791861	83	17302										
FLT4	2324	genome.wustl.edu	37	chr5	180047610	180047610	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agcggggagggacactcaccCtcctcatgttacagaagatg	12	11	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr5:180047610C>T	ENST00000261937.6	-	16	2483	c.2405G>A	c.(2404-2406)aGg>aAg	p.R802K	FLT4_ENST00000502649.1_Splice_Site_p.R802K|FLT4_ENST00000393347.3_Splice_Site_p.R802K|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	802					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACACTCACCCTCCTCATGTT	0.577																																					Colon(97;1075 1466 27033 27547 35871)												0													87	88	88					5																	180047610		2200	4298	6498	SO:0001630	splice_region_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2406+1G>A	5.37:g.180047610C>T			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R802K	ENST00000261937.6	37	c.2405	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287174	0.80803	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.76448	-1.02;-1.02;-1.02	4.28	3.41	0.39046	.	.	.	.	.	T	0.68476	0.3005	L	0.39085	1.19	0.58432	D	0.999993	B;B;P	0.36378	0.34;0.224;0.55	B;B;B	0.37091	0.193;0.175;0.241	T	0.66184	-0.5987	9	0.34782	T	0.22	.	12.5687	0.56323	0.0:0.9182:0.0:0.0818	.	612;802;802	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	K	802;802;802;612	ENSP00000261937:R802K;ENSP00000377016:R802K;ENSP00000426057:R802K	ENSP00000261937:R802K	R	-	2	0	FLT4	179980216	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.832000	0.62759	1.163000	0.42636	0.462000	0.41574	AGG	FLT4	-	NULL		0.577	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C		Missense_Mutation	180047610	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	1.000	T	T	180047610	C	T	180047610	5	4	116	1	0	0	0	0	0	0	1	0	5962	695	24	4	1754	4	FLT4	5	180047610	Splice_Site	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	11924211	180047610	867650	84	17303										
HIST1H2AB	8335	genome.wustl.edu	37	chr6	26033405	26033405	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgcatgaagcgttaactcttCactttcccttggccttatga	7	11	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:26033405C>T	ENST00000259791.2	-	1	391	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	0						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTAACTCTTCACTTTCCCTT	0.488																																																	0													51	52	52					6																	26033405		2203	4300	6503	SO:0001819	synonymous_variant	8335			X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.392G>A	6.37:g.26033405C>T			P28001|Q76P63	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.*131	ENST00000259791.2	37	c.392	CCDS4574.1	6																																																																																			HIST1H2AB	-	NULL		0.488	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AB	HGNC	protein_coding	OTTHUMT00000040082.1	C	NM_003513		26033405	-1	no_errors	ENST00000259791	ensembl	human	known	70_37	silent	SNP	0.936	T	T	26033405	C	T	26033405	2	4	116	1	0	0	0	0	0	0	0	1	7149	837	29	1		1	HIST1H2AB	6	26033405	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		26033405	145081662	85	17304										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27835303	27835303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tctcggcaggagcggtttccGacatggtggcaagaaactgc	14	10	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:27835303G>A	ENST00000331442.3	-	1	56	c.5C>T	c.(4-6)tCg>tTg	p.S2L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	2					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGCGGTTTCCGACATGGTGGC	0.577																																																	0													16	19	18					6																	27835303		2034	3971	6005	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.5C>T	6.37:g.27835303G>A	ENSP00000330074:p.Ser2Leu		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.S2L	ENST00000331442.3	37	c.5	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078044	0.76528	.	.	ENSG00000184357	ENST00000331442	T	0.05717	3.4	5.58	5.58	0.84498	.	0.337737	0.30840	N	0.008775	T	0.01905	0.0060	N	0.08118	0	0.58432	D	0.999999	D	0.53619	0.961	B	0.35114	0.196	T	0.55412	-0.8145	10	0.87932	D	0	-20.7658	18.954	0.92650	0.0:0.0:1.0:0.0	.	2	P16401	H15_HUMAN	L	2	ENSP00000330074:S2L	ENSP00000330074:S2L	S	-	2	0	HIST1H1B	27943282	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	6.033000	0.70925	2.793000	0.96121	0.655000	0.94253	TCG	HIST1H1B	-	NULL		0.577	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	G	NM_005322		27835303	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27835303	G	A	27835303	3	1	116	1	0	0	0	0	1	0	0	0	7143	1059	37	1	679	1	HIST1H1B	6	27835303	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1801898	27835303	143279764	86	17305										
ZSCAN23	222696	genome.wustl.edu	37	chr6	28403285	28403285	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caaattatacccaagttgctCttccaaggtttggaattggt	8	8	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:28403285C>T	ENST00000289788.4	-	3	653	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ZSCAN23_ENST00000486481.1_5'UTR	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	170					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						CCAAGTTGCTCTTCCAAGGTT	0.468																																																	0													84	73	76					6																	28403285		692	1591	2283	SO:0001583	missense	222696			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.508G>A	6.37:g.28403285C>T	ENSP00000289788:p.Glu170Lys		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E170K	ENST00000289788.4	37	c.508	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622689	0.28889	.	.	ENSG00000187987	ENST00000289788	T	0.05139	3.49	3.75	0.961	0.19638	.	0.618460	0.14085	N	0.342429	T	0.01222	0.0040	L	0.44542	1.39	0.21822	N	0.999522	B	0.06786	0.001	B	0.04013	0.001	T	0.48614	-0.9020	10	0.06891	T	0.86	.	5.6641	0.17684	0.0:0.6452:0.0:0.3548	.	170	Q3MJ62	ZSC23_HUMAN	K	170	ENSP00000289788:E170K	ENSP00000289788:E170K	E	-	1	0	ZSCAN23	28511264	0.000000	0.05858	0.039000	0.18376	0.496000	0.33645	-0.248000	0.08854	0.175000	0.19841	0.557000	0.71058	GAG	ZSCAN23	-	NULL		0.468	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	C	XM_167147		28403285	-1	no_errors	ENST00000289788	ensembl	human	known	70_37	missense	SNP	0.766	T	T	28403285	C	T	28403285	3	4	116	1	0	0	0	0	1	0	0	0	18265	922	32	1	669	1	ZSCAN23	6	28403285	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	567982	28403285	142711782	87	17306										
NOTCH4	4855	genome.wustl.edu	37	chr6	32170026	32170026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cctccatcccagtttcctccCgggccactgcagccagcatc	7	20	0	0	rs146699614	byFrequency	TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:32170026C>T	ENST00000375023.3	-	21	3720	c.3582G>A	c.(3580-3582)ccG>ccA	p.P1194P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1194					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGTTTCCTCCCGGGCCACTGC	0.677													T|||	2	0.000399361	0.0015	0	5008	,	,		18041	0		0	False		,,,				2504	0																0								T		3,3015		0,3,1506	37	41	39		3582	-6.6	0.4	6	dbSNP_134	39	0,5416		0,0,2708	no	coding-synonymous	NOTCH4	NM_004557.3		0,3,4214	TT,TC,CC		0.0,0.0994,0.0356		1194/2004	32170026	3,8431	1509	2708	4217	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3582G>A	6.37:g.32170026C>T			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.P1194	ENST00000375023.3	37	c.3582	CCDS34420.1	6																																																																																			NOTCH4	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom		0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32170026	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	silent	SNP	0.296	T	T	32170026	C	T	32170026	2	4	116	1	0	0	0	0	0	0	0	1	10575	639	23	2		2	NOTCH4	6	32170026	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	3766741	32170026	138945041	88	17307										
NOTCH4	4855	genome.wustl.edu	37	chr6	32183067	32183067	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggcacagccagggcttccatCaggacagaggcagttggcct	14	12	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:32183067C>T	ENST00000375023.3	-	12	2095	c.1957G>A	c.(1957-1959)Gat>Aat	p.D653N	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	653	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGCTTCCATCAGGACAGAGG	0.612																																																	0													105	63	78					6																	32183067		1511	2709	4220	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1957G>A	6.37:g.32183067C>T	ENSP00000364163:p.Asp653Asn		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.D653N	ENST00000375023.3	37	c.1957	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086114	0.36855	.	.	ENSG00000204301	ENST00000375023	T	0.66995	-0.24	4.53	3.66	0.41972	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45361	D	0.000370	T	0.56232	0.1971	L	0.41632	1.29	0.19945	N	0.99994	D	0.69078	0.997	D	0.77004	0.989	T	0.47005	-0.9150	10	0.21540	T	0.41	.	8.2902	0.31952	0.0:0.8917:0.0:0.1083	.	653	Q99466	NOTC4_HUMAN	N	653	ENSP00000364163:D653N	ENSP00000364163:D653N	D	-	1	0	NOTCH4	32291045	0.000000	0.05858	0.293000	0.24932	0.711000	0.40976	0.072000	0.14617	1.133000	0.42147	0.561000	0.74099	GAT	NOTCH4	-	smart_EG-like_dom,pirsf_Notch		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32183067	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.186	T	T	32183067	C	T	32183067	3	4	116	1	0	0	0	0	1	0	0	0	10575	826	29	1	4130	1	NOTCH4	6	32183067	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	13041	32183067	138932000	89	17308										
SLC39A7	7922	genome.wustl.edu	37	chr6	33169070	33169070	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgggtggccgtgggactgctGacctgggcgaccttggggct	19	10	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:33169070G>A	ENST00000374677.3	+	1	421	c.48G>A	c.(46-48)ctG>ctA	p.L16L	RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.L16L	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	16					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGGGACTGCTGACCTGGGCGA	0.637																																																	0													56	67	64					6																	33169070		1991	4159	6150	SO:0001819	synonymous_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.48G>A	6.37:g.33169070G>A			B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	pfam_ZIP,prints_Kininogen	p.L16	ENST00000374677.3	37	c.48	CCDS43453.1	6																																																																																			SLC39A7	-	NULL		0.637	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	G	NM_006979		33169070	1	no_errors	ENST00000374675	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33169070	G	A	33169070	2	1	116	1	0	0	0	0	0	0	0	1	14653	1277	45	1		1	SLC39A7	6	33169070	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	986003	33169070	137945997	90	17309										
SYNGAP1	8831	genome.wustl.edu	37	chr6	33403358	33403358	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccgaaagagacaaatggattGagaatctgcagcgggcagta	13	7	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:33403358G>C	ENST00000418600.2	+	7	831	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E185Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E244Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	244	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAAATGGATTGAGAATCTGCA	0.517																																																	0													143	134	137					6																	33403358		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.730G>C	6.37:g.33403358G>C	ENSP00000403636:p.Glu244Gln		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E244Q	ENST00000418600.2	37	c.730	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169385	0.78339	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93426	-3.22;-3.22;-3.22	4.62	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.93210	0.7837	L	0.58669	1.825	0.58432	D	0.999999	D;D;P	0.64830	0.99;0.994;0.63	P;D;B	0.63033	0.815;0.91;0.358	D	0.93369	0.6733	10	0.66056	D	0.02	.	10.6726	0.45768	0.094:0.0:0.906:0.0	.	244;244;244	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	Q	244;244;244;185	ENSP00000293748:E244Q;ENSP00000403636:E244Q;ENSP00000412475:E185Q	ENSP00000293748:E244Q	E	+	1	0	SYNGAP1	33511336	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.657000	0.98554	1.160000	0.42584	0.591000	0.81541	GAG	SYNGAP1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33403358	1	no_errors	ENST00000418600	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33403358	G	C	33403358	3	2	116	1	0	0	0	0	1	0	0	0	15477	1291	45	1	756	1	SYNGAP1	6	33403358	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	234288	33403358	137711709	91	17310										
ITPR3	3710	genome.wustl.edu	37	chr6	33632874	33632874	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gacaaggaggcctttgccatCgtgtcagtgcccgtgtctga	13	11	2	1	rs373612197		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:33632874C>T	ENST00000374316.5	+	14	2353	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	ITPR3_ENST00000605930.1_Silent_p.I431I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	431	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTTTGCCATCGTGTCAGTGC	0.627													C|||	1	0.000199681	0	0	5008	,	,		17039	0		0	False		,,,				2504	0.001																0								C		1,4405	2.1+/-5.4	0,1,2202	86	82	84		1293	-5.8	0.9	6		84	0,8600		0,0,4300	no	coding-synonymous	ITPR3	NM_002224.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		431/2672	33632874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1293C>T	6.37:g.33632874C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I431	ENST00000374316.5	37	c.1293	CCDS4783.1	6																																																																																			ITPR3	-	pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	C	NM_002224		33632874	1	no_errors	ENST00000374316	ensembl	human	known	70_37	silent	SNP	0.840	T	T	33632874	C	T	33632874	2	4	116	1	0	0	0	0	0	0	0	1	7942	874	31	1		1	ITPR3	6	33632874	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	229516	33632874	137482193	92	17311										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34802138	34802138	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtcaaccccaactggcagcaGagtgaccttcgccttacccg	9	16	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:34802138G>C	ENST00000192788.5	+	5	654	c.483G>C	c.(481-483)caG>caC	p.Q161H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q161H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	161							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACTGGCAGCAGAGTGACCTTC	0.512																																																	0													65	63	64					6																	34802138		1994	4160	6154	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.483G>C	6.37:g.34802138G>C	ENSP00000192788:p.Gln161His		Q9NXE0	Missense_Mutation	SNP	NULL	p.Q161H	ENST00000192788.5	37	c.483	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.273961	0.05679	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08634	3.07;3.07	4.71	3.84	0.44239	.	0.171942	0.46442	D	0.000284	T	0.00845	0.0028	N	0.03324	-0.35	0.35229	D	0.776716	P	0.36438	0.553	B	0.29176	0.099	T	0.40403	-0.9565	10	0.07644	T	0.81	-5.1336	8.2115	0.31486	0.0798:0.0:0.7655:0.1547	.	161	Q6BDS2	URFB1_HUMAN	H	161	ENSP00000192788:Q161H;ENSP00000400628:Q161H	ENSP00000192788:Q161H	Q	+	3	2	UHRF1BP1	34910116	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.512000	0.35812	1.211000	0.43351	-0.150000	0.13652	CAG	UHRF1BP1	-	NULL		0.512	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34802138	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34802138	G	C	34802138	3	2	116	1	0	0	0	0	1	0	0	0	16999	933	33	1	501	1	UHRF1BP1	6	34802138	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1169264	34802138	136312929	93	17312										
GPR115	221393	genome.wustl.edu	37	chr6	47681717	47681717	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcattcagacaaaagggtttCacatcaaccataatacctca	4	11	5	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:47681717C>T	ENST00000283303.2	+	6	994	c.736C>T	c.(736-738)Cac>Tac	p.H246Y	GPR115_ENST00000327753.3_Missense_Mutation_p.H246Y|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.H303Y	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	246					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAAAGGGTTTCACATCAACCA	0.393																																					GBM(22;431 510 9010 26644 32828)												0													85	82	83					6																	47681717		2203	4300	6503	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.736C>T	6.37:g.47681717C>T	ENSP00000283303:p.His246Tyr		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.H303Y	ENST00000283303.2	37	c.907	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.952385	0.00470	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.33654	1.62;1.4;1.4	5.19	4.2	0.49525	.	0.991144	0.08218	N	0.979579	T	0.11793	0.0287	L	0.40543	1.245	0.09310	N	1	B	0.24092	0.097	B	0.21546	0.035	T	0.22521	-1.0214	10	0.05525	T	0.97	-0.2592	12.6774	0.56901	0.2249:0.7751:0.0:0.0	.	246	Q8IZF3	GP115_HUMAN	Y	303;246;246	ENSP00000360264:H303Y;ENSP00000328319:H246Y;ENSP00000283303:H246Y	ENSP00000283303:H246Y	H	+	1	0	GPR115	47789676	0.002000	0.14202	0.823000	0.32752	0.492000	0.33523	1.702000	0.37836	2.578000	0.87016	0.655000	0.94253	CAC	GPR115	-	NULL		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	C	NM_153838		47681717	1	no_errors	ENST00000371220	ensembl	human	known	70_37	missense	SNP	0.132	T	T	47681717	C	T	47681717	3	4	116	1	0	0	0	0	1	0	0	0	6651	826	29	1	754	1	GPR115	6	47681717	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	12879579	47681717	123433350	94	17313										
MDN1	23195	genome.wustl.edu	37	chr6	90453374	90453374	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgtgtaagtggcagctgacaGagtataatttctgatttgcc	11	6	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:90453374G>C	ENST00000369393.3	-	30	4353	c.4238C>G	c.(4237-4239)tCt>tGt	p.S1413C	MDN1_ENST00000428876.1_Missense_Mutation_p.S1413C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1413					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAGCTGACAGAGTATAATTT	0.463																																																	0													121	113	116					6																	90453374		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4238C>G	6.37:g.90453374G>C	ENSP00000358400:p.Ser1413Cys		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.S1413C	ENST00000369393.3	37	c.4238	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440884	0.43326	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.54675	0.56;0.56	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.137739	0.49916	D	0.000122	T	0.44265	0.1285	M	0.64630	1.985	0.50171	D	0.999859	B	0.26120	0.142	B	0.36030	0.216	T	0.45716	-0.9242	10	0.41790	T	0.15	.	14.6943	0.69110	0.0:0.1448:0.8552:0.0	.	1413	Q9NU22	MDN1_HUMAN	C	1413	ENSP00000358400:S1413C;ENSP00000413970:S1413C	ENSP00000358400:S1413C	S	-	2	0	MDN1	90510095	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.384000	0.73177	2.508000	0.84585	0.563000	0.77884	TCT	MDN1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90453374	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.972	C	C	90453374	G	C	90453374	3	2	116	1	0	0	0	0	1	0	0	0	9438	942	33	1	12844	1	MDN1	6	90453374	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	42771657	90453374	80661693	95	17314										
FUT9	10690	genome.wustl.edu	37	chr6	96651676	96651676	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctaagcaaaagcattgaaatCcatacctacgggcaagcatt	7	10	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:96651676C>G	ENST00000302103.5	+	3	971	c.645C>G	c.(643-645)atC>atG	p.I215M		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	215					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCATTGAAATCCATACCTACG	0.373																																					Melanoma(98;1369 1476 6592 22940 26587)												0													59	57	58					6																	96651676		2203	4300	6503	SO:0001583	missense	10690			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.645C>G	6.37:g.96651676C>G	ENSP00000302599:p.Ile215Met		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.I215M	ENST00000302103.5	37	c.645	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320997	0.41096	.	.	ENSG00000172461	ENST00000302103	T	0.29655	1.56	5.75	2.6	0.31112	.	0.050600	0.85682	D	0.000000	T	0.45357	0.1338	M	0.82517	2.595	0.41448	D	0.987969	D	0.67145	0.996	D	0.77004	0.989	T	0.53795	-0.8388	10	0.87932	D	0	-15.1268	11.1477	0.48440	0.0:0.7648:0.0:0.2352	.	215	Q9Y231	FUT9_HUMAN	M	215	ENSP00000302599:I215M	ENSP00000302599:I215M	I	+	3	3	FUT9	96758397	0.968000	0.33430	1.000000	0.80357	0.988000	0.76386	0.132000	0.15891	0.792000	0.33850	0.655000	0.94253	ATC	FUT9	-	pfam_Glyco_trans_10		0.373	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	C	NM_006581		96651676	1	no_errors	ENST00000302103	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96651676	C	G	96651676	3	3	116	1	0	0	0	0	1	0	0	0	6129	845	30	1	647	1	FUT9	6	96651676	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	6198302	96651676	74463391	96	17315										
TBPL1	9519	genome.wustl.edu	37	chr6	134305526	134305526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcctaaaggtaatatttacaGattttaaggttgttaacgtt	7	4	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:134305526G>C	ENST00000237264.4	+	5	570	c.295G>C	c.(295-297)Gat>Cat	p.D99H	TBPL1_ENST00000477527.1_Intron|TBPL1_ENST00000367871.1_Missense_Mutation_p.D99H	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	99					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATATTTACAGATTTTAAGGT	0.323																																																	0													45	44	44					6																	134305526		2203	4300	6503	SO:0001583	missense	9519			AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.295G>C	6.37:g.134305526G>C	ENSP00000237264:p.Asp99His		A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.D99H	ENST00000237264.4	37	c.295	CCDS5168.1	6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354174	0.61293	.	.	ENSG00000028839	ENST00000416965;ENST00000367871;ENST00000237264	.	.	.	5.81	5.81	0.92471	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (2);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.088152	0.85682	D	0.000000	T	0.57725	0.2073	M	0.65320	2	0.58432	D	0.999998	B	0.12013	0.005	B	0.13407	0.009	T	0.57642	-0.7776	9	0.72032	D	0.01	-21.468	19.0715	0.93140	0.0:0.0:1.0:0.0	.	99	P62380	TBPL1_HUMAN	H	99	.	ENSP00000237264:D99H	D	+	1	0	TBPL1	134347219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.273000	0.95719	2.756000	0.94617	0.655000	0.94253	GAT	TBPL1	-	pfam_TBP		0.323	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL1	HGNC	protein_coding	OTTHUMT00000042294.2	G			134305526	1	no_errors	ENST00000237264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134305526	G	C	134305526	3	2	116	1	0	0	0	0	1	0	0	0	15675	942	33	1	309	1	TBPL1	6	134305526	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	37653850	134305526	36809541	97	17316										
TAB2	23118	genome.wustl.edu	37	chr6	149699569	149699569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cctttctcaacaaactcccaGatttaatcccattatggtaa	3	12	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:149699569G>C	ENST00000367456.1	+	4	1095	c.518G>C	c.(517-519)aGa>aCa	p.R173T	TAB2_ENST00000286332.5_Missense_Mutation_p.R173T|TAB2_ENST00000392282.1_Missense_Mutation_p.R173T|TAB2_ENST00000536230.1_Missense_Mutation_p.R141T|TAB2_ENST00000538427.1_Missense_Mutation_p.R173T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	173					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAAACTCCCAGATTTAATCCC	0.423																																																	0													79	77	78					6																	149699569		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.518G>C	6.37:g.149699569G>C	ENSP00000356426:p.Arg173Thr		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.R173T	ENST00000367456.1	37	c.518	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593805	0.46214	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.80994	-1.44;-1.38;-1.4;-1.4;-1.4	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.87208	0.6120	M	0.63843	1.955	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.966	D	0.85997	0.1492	10	0.52906	T	0.07	-10.6231	20.2119	0.98289	0.0:0.0:1.0:0.0	.	141;173	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	T	141;173;173;173;173	ENSP00000443206:R141T;ENSP00000376106:R173T;ENSP00000445752:R173T;ENSP00000356426:R173T;ENSP00000286332:R173T	ENSP00000286332:R173T	R	+	2	0	TAB2	149741262	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.230000	0.95299	2.784000	0.95788	0.585000	0.79938	AGA	TAB2	-	NULL		0.423	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	G			149699569	1	no_errors	ENST00000286332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149699569	G	C	149699569	3	2	116	1	0	0	0	0	1	0	0	0	15526	942	33	1	524	1	TAB2	6	149699569	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	15394043	149699569	21415498	98	17317										
SYNE1	23345	genome.wustl.edu	37	chr6	152671384	152671384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gccaccagtctgccagacatCtgcagcagccacttttcgac	8	16	2	1	rs140054849		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:152671384C>T	ENST00000367255.5	-	72	12421	c.11820G>A	c.(11818-11820)caG>caA	p.Q3940Q	SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000265368.4_Silent_p.Q3940Q|SYNE1_ENST00000341594.5_Silent_p.Q3864Q|SYNE1_ENST00000423061.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3940					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCCAGACATCTGCAGCAGCC	0.532										HNSCC(10;0.0054)																																							0													105	95	99					6																	152671384		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11820G>A	6.37:g.152671384C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q3940	ENST00000367255.5	37	c.11820	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152671384	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152671384	C	T	152671384	2	4	116	1	0	0	0	0	0	0	0	1	15475	912	32	1		1	SYNE1	6	152671384	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2971815	152671384	18443683	99	17318										
TULP4	56995	genome.wustl.edu	37	chr6	158834175	158834175	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaggcatattcgtgtggattCagtacgagggcaggtggtct	16	6	2	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:158834175C>T	ENST00000367097.3	+	2	1688	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	TULP4_ENST00000367094.2_Nonsense_Mutation_p.Q111*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	111					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGTGTGGATTCAGTACGAGGG	0.602																																																	0													149	123	132					6																	158834175		2203	4300	6503	SO:0001587	stop_gained	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.331C>T	6.37:g.158834175C>T	ENSP00000356064:p.Gln111*		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Nonsense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q111*	ENST00000367097.3	37	c.331	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	C	50	16.450468	0.99863	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.4749	20.1358	0.98028	0.0:1.0:0.0:0.0	.	.	.	.	X	111	.	ENSP00000356061:Q111X	Q	+	1	0	TULP4	158754163	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.484000	0.81180	2.865000	0.98341	0.655000	0.94253	CAG	TULP4	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.602	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158834175	1	no_errors	ENST00000367097	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	158834175	C	T	158834175	4	4	116	1	0	0	0	0	0	1	0	0	16807	827	29	1	337	1	TULP4	6	158834175	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	6162791	158834175	12280892	100	17319										
FAM120B	84498	genome.wustl.edu	37	chr6	170627053	170627053	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgacacttgtccctacttttCaattagcgagctctgcctag	7	12	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr6:170627053C>A	ENST00000476287.1	+	2	683	c.575C>A	c.(574-576)tCa>tAa	p.S192*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.S204*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.S215*|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	192					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCCTACTTTTCAATTAGCGAG	0.512																																																	0													82	87	85					6																	170627053		2203	4300	6503	SO:0001587	stop_gained	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.575C>A	6.37:g.170627053C>A	ENSP00000417970:p.Ser192*		B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	NULL	p.S215*	ENST00000476287.1	37	c.644	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.397238	0.98258	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9544	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	204;215;192	.	ENSP00000436640:S192X	S	+	2	0	FAM120B	170468978	1.000000	0.71417	0.903000	0.35520	0.945000	0.59286	7.281000	0.78621	2.732000	0.93576	0.650000	0.86243	TCA	FAM120B	-	NULL		0.512	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	C	NM_032448		170627053	1	no_errors	ENST00000537664	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	170627053	C	A	170627053	4	1	116	1	0	0	0	0	0	1	0	0	5432	838	29	3	577	3	FAM120B	6	170627053	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	11792878	170627053	488014	101	17320										
C7orf26	79034	genome.wustl.edu	37	chr7	6639837	6639837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gcctggggctgatcctcttcGaccacatggtcccgctggta	12	14	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:6639837G>A	ENST00000344417.5	+	4	1225	c.958G>A	c.(958-960)Gac>Aac	p.D320N	C7orf26_ENST00000359073.5_Missense_Mutation_p.D223N|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	320										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATCCTCTTCGACCACATGGT	0.592																																																	0													58	51	54					7																	6639837		2203	4300	6503	SO:0001583	missense	79034			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.958G>A	7.37:g.6639837G>A	ENSP00000340220:p.Asp320Asn		Q9BQ43	Missense_Mutation	SNP	NULL	p.D320N	ENST00000344417.5	37	c.958	CCDS5353.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.992955|4.992955	0.93167|0.93167	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000344417;ENST00000359073|ENST00000445375	T;T|.	0.42900|.	0.96;0.96|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.082256|.	0.85682|.	D|.	0.000000|.	T|T	0.61337|0.61337	0.2339|0.2339	L|L	0.41236|0.41236	1.265|1.265	0.50171|0.50171	D|D	0.999851|0.999851	D;D|.	0.69078|.	0.994;0.997|.	P;P|.	0.60789|.	0.652;0.879|.	T|T	0.55309|0.55309	-0.8161|-0.8161	10|5	0.52906|.	T|.	0.07|.	-32.5857|-32.5857	17.036|17.036	0.86476|0.86476	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	223;320|.	Q96N11-2;Q96N11|.	.;CG026_HUMAN|.	N|Q	320;223|57	ENSP00000340220:D320N;ENSP00000351974:D223N|.	ENSP00000340220:D320N|.	D|R	+|+	1|2	0|0	C7orf26|C7orf26	6606362|6606362	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.814000|0.814000	0.46013|0.46013	9.062000|9.062000	0.93920|0.93920	2.811000|2.811000	0.96726|0.96726	0.555000|0.555000	0.69702|0.69702	GAC|CGA	C7orf26	-	NULL		0.592	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	G	NM_024067		6639837	1	no_errors	ENST00000344417	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6639837	G	A	6639837	3	1	116	1	0	0	0	0	1	0	0	0	2386	1058	37	1	972	1	C7orf26	7	6639837	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		6639837	152498826	102	17321										
MIOS	54468	genome.wustl.edu	37	chr7	7622951	7622951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gctgtggcattgttcaacttGgatattcgccgagcaatcca	10	10	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:7622951G>C	ENST00000340080.4	+	6	2017	c.1596G>C	c.(1594-1596)ttG>ttC	p.L532F	MIOS_ENST00000405785.1_Missense_Mutation_p.L532F|MIOS_ENST00000461907.2_3'UTR	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	532						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTTCAACTTGGATATTCGCC	0.408																																																	0													132	132	132					7																	7622951		1889	4115	6004	SO:0001583	missense	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1596G>C	7.37:g.7622951G>C	ENSP00000339881:p.Leu532Phe		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	smart_WD40_repeat	p.L532F	ENST00000340080.4	37	c.1596	CCDS43554.1	7	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406303	0.42715	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.47869	0.83;0.83	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.38852	0.1056	L	0.51914	1.62	0.80722	D	1	B	0.18166	0.026	B	0.25291	0.059	T	0.14643	-1.0465	10	0.09590	T	0.72	-9.6968	10.3886	0.44156	0.1498:0.0:0.8502:0.0	.	532	Q9NXC5	MIO_HUMAN	F	532	ENSP00000339881:L532F;ENSP00000384088:L532F	ENSP00000339881:L532F	L	+	3	2	MIOS	7589476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.230000	0.58632	1.405000	0.46838	0.650000	0.86243	TTG	MIOS	-	NULL		0.408	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	G	NM_019005		7622951	1	no_errors	ENST00000340080	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7622951	G	C	7622951	3	2	116	1	0	0	0	0	1	0	0	0	9612	1339	47	4	1606	4	MIOS	7	7622951	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	983114	7622951	151515712	103	17322										
ELMO1	9844	genome.wustl.edu	37	chr7	36917698	36917698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gcaggactttgtgatttggcGaaagccgacaataccaaaac	10	9	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:36917698G>A	ENST00000310758.4	-	19	2386	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	ELMO1_ENST00000341056.3_Missense_Mutation_p.S282L|ELMO1_ENST00000448602.1_Missense_Mutation_p.S580L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S580L|ELMO1_ENST00000396045.3_Missense_Mutation_p.S100L|ELMO1_ENST00000396040.2_Missense_Mutation_p.S100L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	580	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGATTTGGCGAAAGCCGACA	0.418																																																	0													71	66	68					7																	36917698		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1739C>T	7.37:g.36917698G>A	ENSP00000312185:p.Ser580Leu		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S580L	ENST00000310758.4	37	c.1739	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.261631	0.95368	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.80854	-0.1196	10	0.87932	D	0	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	580	Q92556	ELMO1_HUMAN	L	282;100;580;484;100;580;580	ENSP00000342142:S282L;ENSP00000379360:S100L;ENSP00000312185:S580L;ENSP00000379355:S100L;ENSP00000406952:S580L;ENSP00000394458:S580L	ENSP00000312185:S580L	S	-	2	0	ELMO1	36884223	1.000000	0.71417	0.990000	0.47175	0.860000	0.49131	9.359000	0.97115	2.756000	0.94617	0.655000	0.94253	TCG	ELMO1	-	NULL		0.418	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	G	NM_130442		36917698	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36917698	G	A	36917698	3	1	116	1	0	0	0	0	1	0	0	0	5077	1059	37	1	460	1	ELMO1	7	36917698	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	29294747	36917698	122220965	104	17323										
GLI3	2737	genome.wustl.edu	37	chr7	42088256	42088256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggggagatcctaatgaagggCaggtccggatacgtagggct	17	7	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:42088256C>T	ENST00000395925.3	-	5	597	c.513G>A	c.(511-513)ctG>ctA	p.L171L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	171					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAATGAAGGGCAGGTCCGGAT	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													99	101	100					7																	42088256		2203	4300	6503	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.513G>A	7.37:g.42088256C>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L171	ENST00000395925.3	37	c.513	CCDS5465.1	7																																																																																			GLI3	-	NULL		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42088256	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42088256	C	T	42088256	2	4	116	1	0	0	0	0	0	0	0	1	6458	697	25	4		4	GLI3	7	42088256	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	5170558	42088256	117050407	105	17324										
FKBP6	8468	genome.wustl.edu	37	chr7	72754676	72754676	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gccggcgatcagcaccccctGaagagcagcacctggtggag	14	14	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:72754676G>A	ENST00000252037.4	+	6	694	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.E179K|FKBP6_ENST00000431982.2_Missense_Mutation_p.E204K	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	209					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGCACCCCCTGAAGAGCAGCA	0.547																																																	0													60	65	63					7																	72754676		1965	4153	6118	SO:0001583	missense	8468			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.625G>A	7.37:g.72754676G>A	ENSP00000252037:p.Glu209Lys		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E209K	ENST00000252037.4	37	c.625	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787165	0.49997	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.74002	-0.8;0.26;-0.8;-0.8	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);	0.347447	0.31404	N	0.007717	T	0.69602	0.3129	L	0.50333	1.59	0.20821	N	0.999843	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.006;0.001;0.002	T	0.61148	-0.7121	10	0.42905	T	0.14	-14.9873	15.2625	0.73634	0.0:0.0:1.0:0.0	.	204;209;179	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	K	204;164;179;209	ENSP00000416277:E204K;ENSP00000402360:E164K;ENSP00000394952:E179K;ENSP00000252037:E209K	ENSP00000252037:E209K	E	+	1	0	FKBP6	72392612	0.268000	0.24133	0.037000	0.18230	0.003000	0.03518	3.574000	0.53863	2.284000	0.76573	0.563000	0.77884	GAA	FKBP6	-	NULL		0.547	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	HGNC	protein_coding	OTTHUMT00000318723.1	G	NM_003602		72754676	1	no_errors	ENST00000252037	ensembl	human	known	70_37	missense	SNP	0.038	A	A	72754676	G	A	72754676	3	1	116	1	0	0	0	0	1	0	0	0	5930	1291	45	1	693	1	FKBP6	7	72754676	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	30666420	72754676	86383987	106	17325										
GTF2IRD2	84163	genome.wustl.edu	37	chr7	74211579	74211579	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gttcagatgcatcgtcatgtCaaccaagaaggccaggtctc	10	11	4	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:74211579C>T	ENST00000405086.2	-	16	2461	c.2272G>A	c.(2272-2274)Gac>Aac	p.D758N	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.D305N	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						atcgtcatgtcaaccaagaag	0.502																																					NSCLC(40;560 1096 7501 40315 49546)												0													5	5	5					7																	74211579		1708	3583	5291	SO:0001583	missense	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2272G>A	7.37:g.74211579C>T	ENSP00000385491:p.Asp758Asn		A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.D758N	ENST00000405086.2	37	c.2272	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	c	15.28	2.786773	0.49997	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	D;D	0.86865	-2.18;-2.18	1.74	1.74	0.24563	Ribonuclease H-like (1);	.	.	.	.	D	0.91560	0.7334	M	0.80422	2.495	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.90512	0.4482	9	0.87932	D	0	-24.639	7.1297	0.25493	0.0:1.0:0.0:0.0	.	758	Q86UP8	GTD2A_HUMAN	N	758;305	ENSP00000385491:D758N;ENSP00000406723:D305N	ENSP00000385491:D758N	D	-	1	0	GTF2IRD2	73849515	0.983000	0.35010	0.850000	0.33497	0.822000	0.46500	1.812000	0.38952	1.317000	0.45149	0.442000	0.29010	GAC	GTF2IRD2	-	superfamily_RNaseH-like_dom		0.502	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	C	NM_173537		74211579	-1	no_errors	ENST00000405086	ensembl	human	known	70_37	missense	SNP	0.913	T	T	74211579	C	T	74211579	3	4	116	1	0	0	0	0	1	0	0	0	6889	826	29	1	581	1	GTF2IRD2	7	74211579	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1456903	74211579	84927084	107	17326										
MAGI2	9863	genome.wustl.edu	37	chr7	77814979	77814979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcgaaaactggtcctgggtgGcacttgttctggatgggaaa	14	7	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:77814979G>T	ENST00000354212.4	-	13	2531	c.2278C>A	c.(2278-2280)Cca>Aca	p.P760T	MAGI2_ENST00000419488.1_Intron|MAGI2_ENST00000522391.1_Missense_Mutation_p.P760T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	760					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTCCTGGGTGGCACTTGTTCT	0.368																																																	0													115	114	114					7																	77814979		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2278C>A	7.37:g.77814979G>T	ENSP00000346151:p.Pro760Thr		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.P760T	ENST00000354212.4	37	c.2278	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430529	0.62844	.	.	ENSG00000187391	ENST00000354212;ENST00000536298;ENST00000522391	T;T	0.38887	1.11;1.11	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.224065	0.22340	U	0.061348	T	0.38321	0.1036	L	0.43152	1.355	0.80722	D	1	B;P	0.36282	0.008;0.546	B;B	0.31614	0.003;0.133	T	0.10268	-1.0637	10	0.30078	T	0.28	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	760;760	B7Z4H4;Q86UL8	.;MAGI2_HUMAN	T	760	ENSP00000346151:P760T;ENSP00000428389:P760T	ENSP00000346151:P760T	P	-	1	0	MAGI2	77652915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.850000	0.98022	0.650000	0.86243	CCA	MAGI2	-	superfamily_PDZ		0.368	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	G	NM_012301		77814979	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77814979	G	T	77814979	3	4	116	1	0	0	0	0	1	0	0	0	9214	1203	42	4	2129	4	MAGI2	7	77814979	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3603400	77814979	81323684	108	17327										
MUC17	140453	genome.wustl.edu	37	chr7	100682598	100682598	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcctagtgaagtaagtacttCattaacaagtatacttgtca	6	7	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:100682598C>T	ENST00000306151.4	+	3	7965	c.7901C>T	c.(7900-7902)tCa>tTa	p.S2634L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2634	59 X approximate tandem repeats.|Ser-rich.				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)			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)					GTAAGTACTTCATTAACAAGT	0.463																																																	0													241	244	243					7																	100682598		2203	4300	6503	SO:0001583	missense	140453			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.7901C>T	7.37:g.100682598C>T	ENSP00000302716:p.Ser2634Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S2634L	ENST00000306151.4	37	c.7901	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	3.566	-0.088652	0.07097	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	0.522	0.522	0.17053	.	.	.	.	.	T	0.00967	0.0032	N	0.03608	-0.345	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.51301	-0.8723	9	0.25751	T	0.34	.	6.9491	0.24536	0.0:0.9999:0.0:1.0E-4	.	2634	Q685J3	MUC17_HUMAN	L	2634	ENSP00000302716:S2634L	ENSP00000302716:S2634L	S	+	2	0	MUC17	100469318	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.166000	0.16583	0.562000	0.29204	0.134000	0.15878	TCA	MUC17	-	NULL		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100682598	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.035	T	T	100682598	C	T	100682598	3	4	116	1	0	0	0	0	1	0	0	0	9997	838	29	1	7911	1	MUC17	7	100682598	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	22867619	100682598	58456065	109	17328										
PODXL	5420	genome.wustl.edu	37	chr7	131195681	131195681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttcataagatggtcatgtccCgagcttgttggggtggccac	13	9	2	1	rs553481012		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:131195681C>T	ENST00000378555.3	-	2	859	c.612G>A	c.(610-612)tcG>tcA	p.S204S	PODXL_ENST00000541194.1_Silent_p.S206S|PODXL_ENST00000322985.9_Silent_p.S204S|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Silent_p.S204S			O00592	PODXL_HUMAN	podocalyxin-like	204	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.S204S(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGTCATGTCCCGAGCTTGTTG	0.542													C|||	1	0.000199681	0	0.0014	5008	,	,		19425	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)											157	137	144					7																	131195681		2203	4300	6503	SO:0001819	synonymous_variant	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.612G>A	7.37:g.131195681C>T			A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.S206	ENST00000378555.3	37	c.618	CCDS34755.1	7																																																																																			PODXL	-	pirsf_Podocalyxin-like_p1		0.542	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	C	NM_001018111		131195681	-1	no_errors	ENST00000541194	ensembl	human	known	70_37	silent	SNP	0.000	T	T	131195681	C	T	131195681	2	4	116	1	0	0	0	0	0	0	0	1	12204	639	23	2		2	PODXL	7	131195681	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	30513083	131195681	27942982	110	17329										
MLL3	58508	genome.wustl.edu	37	chr7	151878287	151878287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccttggtgttgctggtggctGagagtaagggacagaaattc	15	6	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr7:151878287G>A	ENST00000262189.6	-	36	6876	c.6658C>T	c.(6658-6660)Cag>Tag	p.Q2220*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2220*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2220	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGGTGGCTGAGAGTAAGGG	0.468																																																	0													84	80	81					7																	151878287		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6658C>T	7.37:g.151878287G>A	ENSP00000262189:p.Gln2220*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2220*	ENST00000262189.6	37	c.6658	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.064666	0.99821	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	5.37	0.77165	.	0.154508	0.29980	N	0.010707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.4763	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	X	2220	.	ENSP00000262189:Q2220X	Q	-	1	0	MLL3	151509220	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	7.531000	0.81973	2.677000	0.91161	0.655000	0.94253	CAG	MLL3	-	NULL		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878287	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151878287	G	A	151878287	4	1	116	1	0	0	0	0	0	1	0	0	9645	1299	45	1	8173	1	MLL3	7	151878287	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	20682606	151878287	7260376	111	17330										
DLGAP2	9228	genome.wustl.edu	37	chr8	1617924	1617924	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tttaggattctgaattcccaGagcatcagccatacccaagg	8	11	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:1617924G>C	ENST00000421627.2	+	7	2070	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	725					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		tgaattcccagagcatcagcc	0.537																																																	0													129	145	140					8																	1617924		2019	4175	6194	SO:0001583	missense	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1936G>C	8.37:g.1617924G>C	ENSP00000400258:p.Glu646Gln		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.E646Q	ENST00000421627.2	37	c.1936	CCDS47760.1	8	.	.	.	.	.	.	.	.	.	.	G	9.962	1.223033	0.22457	.	.	ENSG00000198010	ENST00000421627	T	0.11821	2.74	3.62	3.62	0.41486	.	1.359160	0.04423	N	0.367963	T	0.09069	0.0224	N	0.04959	-0.14	0.23227	N	0.998087	B	0.06786	0.001	B	0.06405	0.002	T	0.07888	-1.0749	10	0.37606	T	0.19	-8.9481	11.1468	0.48434	0.0:0.0:1.0:0.0	.	725	Q9P1A6	DLGP2_HUMAN	Q	646	ENSP00000400258:E646Q	ENSP00000400258:E646Q	E	+	1	0	DLGAP2	1605331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.251000	0.51453	2.322000	0.78497	0.556000	0.70494	GAG	DLGAP2	-	pfam_GKAP		0.537	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	G	NM_004745		1617924	1	no_errors	ENST00000421627	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1617924	G	C	1617924	3	2	116	1	0	0	0	0	1	0	0	0	4570	943	33	1	1958	1	DLGAP2	8	1617924	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		1617924	144746098	112	17331										
VCPIP1	80124	genome.wustl.edu	37	chr8	67547485	67547485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tttaactaaatcttcaacatCaggaccaatggggaaatgtc	7	8	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:67547485C>G	ENST00000310421.4	-	3	3178	c.2920G>C	c.(2920-2922)Gat>Cat	p.D974H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	974					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTTCAACATCAGGACCAATG	0.433																																					NSCLC(179;265 2915 6144 43644)												0													125	120	122					8																	67547485		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2920G>C	8.37:g.67547485C>G	ENSP00000309031:p.Asp974His		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D974H	ENST00000310421.4	37	c.2920	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074477	0.36566	.	.	ENSG00000175073	ENST00000310421	T	0.37915	1.17	6.08	5.03	0.67393	.	0.091651	0.85682	D	0.000000	T	0.31638	0.0803	N	0.24115	0.695	0.54753	D	0.999987	B	0.34103	0.437	B	0.38655	0.278	T	0.19778	-1.0295	10	0.87932	D	0	-17.0045	16.2916	0.82756	0.0:0.9271:0.0:0.0729	.	974	Q96JH7	VCIP1_HUMAN	H	974	ENSP00000309031:D974H	ENSP00000309031:D974H	D	-	1	0	VCPIP1	67710039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.759000	0.68785	2.894000	0.99253	0.591000	0.81541	GAT	VCPIP1	-	NULL		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67547485	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67547485	C	G	67547485	3	3	116	1	0	0	0	0	1	0	0	0	17172	826	29	1	752	1	VCPIP1	8	67547485	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	65929561	67547485	78816537	113	17332										
C8orf45	157777	genome.wustl.edu	37	chr8	67817467	67817467	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	attttcttttttagcgttttCctatctgaagcccatgcacg	6	10	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:67817467C>T	ENST00000422365.2	+	14	1947	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	MCMDC2_ENST00000541540.1_Silent_p.F529F|MCMDC2_ENST00000313616.5_Silent_p.F592F	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	592	MCM.				DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTAGCGTTTTCCTATCTGAAG	0.318																																																	0													115	91	98					8																	67817467		692	1591	2283	SO:0001819	synonymous_variant	157777			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1776C>T	8.37:g.67817467C>T			B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.F592	ENST00000422365.2	37	c.1776	CCDS6197.2	8																																																																																			MCMDC2	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.318	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	C	NM_173518		67817467	1	no_errors	ENST00000422365	ensembl	human	known	70_37	silent	SNP	0.957	T	T	67817467	C	T	67817467	2	4	116	1	0	0	0	0	0	0	0	1	2435	854	30	1		1	C8orf45	8	67817467	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	269982	67817467	78546555	114	17333										
CA13	377677	genome.wustl.edu	37	chr8	86158063	86158063	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccaccccgagggaccatgtcGaggctcagctggggataccg	14	14	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:86158063G>A	ENST00000321764.3	+	1	308	c.6G>A	c.(4-6)tcG>tcA	p.S2S	RP11-219B4.5_ENST00000549291.1_5'Flank|CA13_ENST00000517298.1_Intron	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	2					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GGACCATGTCGAGGCTCAGCT	0.662																																																	0													137	150	145					8																	86158063		2203	4300	6503	SO:0001819	synonymous_variant	377677			BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.6G>A	8.37:g.86158063G>A				Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S2	ENST00000321764.3	37	c.6	CCDS6236.1	8																																																																																			CA13	-	NULL		0.662	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA13	HGNC	protein_coding	OTTHUMT00000381066.1	G	NM_198584		86158063	1	no_errors	ENST00000321764	ensembl	human	known	70_37	silent	SNP	0.476	A	A	86158063	G	A	86158063	2	1	116	1	0	0	0	0	0	0	0	1	2519	1045	37	1		1	CA13	8	86158063	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	18340596	86158063	60205959	115	17334										
KIAA1429	25962	genome.wustl.edu	37	chr8	95522724	95522724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgaggcaaggtcacacaattGaacacaaatacgccgtaaca	8	10	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:95522724G>T	ENST00000297591.5	-	14	3622	c.3547C>A	c.(3547-3549)Caa>Aaa	p.Q1183K	KIAA1429_ENST00000523405.1_Intron|KIAA1429_ENST00000437199.1_Missense_Mutation_p.Q1183K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1183				Q -> E (in Ref. 1; CAB55922). {ECO:0000305}.	mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCACACAATTGAACACAAATA	0.408																																																	0													121	107	112					8																	95522724		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3547C>A	8.37:g.95522724G>T	ENSP00000297591:p.Gln1183Lys		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1183K	ENST00000297591.5	37	c.3547	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377154	0.82682	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.65364	-0.15;-0.15	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.72118	2.19	0.80722	D	1	P	0.52577	0.954	D	0.67900	0.954	T	0.79436	-0.1804	10	0.62326	D	0.03	-13.9752	19.9405	0.97159	0.0:0.0:1.0:0.0	.	1183	Q69YN4	VIR_HUMAN	K	1183	ENSP00000297591:Q1183K;ENSP00000395600:Q1183K	ENSP00000297591:Q1183K	Q	-	1	0	KIAA1429	95591900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.716000	0.92895	0.650000	0.86243	CAA	KIAA1429	-	NULL		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	G	NM_015496		95522724	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95522724	G	T	95522724	3	4	116	1	0	0	0	0	1	0	0	0	8251	1299	45	3	1935	3	KIAA1429	8	95522724	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	9364661	95522724	50841298	116	17335										
DCAF13	25879	genome.wustl.edu	37	chr8	104452417	104452417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tatctgtgtaaaatggacttCtgacagcaagtatattatgt	8	5	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:104452417C>G	ENST00000297579.5	+	9	1737	c.1460C>G	c.(1459-1461)tCt>tGt	p.S487C	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	335					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAATGGACTTCTGACAGCAAG	0.348																																																	0													170	173	172					8																	104452417		2203	4300	6503	SO:0001583	missense	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1460C>G	8.37:g.104452417C>G	ENSP00000297579:p.Ser487Cys		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S487C	ENST00000297579.5	37	c.1460	CCDS34934.1	8	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775317	0.70107	.	.	ENSG00000164934	ENST00000297579	T	0.60920	0.15	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.333784	0.30800	N	0.008844	T	0.62085	0.2399	L	0.38175	1.15	0.80722	D	1	B	0.30482	0.281	P	0.45660	0.489	T	0.60177	-0.7314	10	0.38643	T	0.18	-13.8009	18.5005	0.90879	0.0:1.0:0.0:0.0	.	335	Q9NV06	DCA13_HUMAN	C	487	ENSP00000297579:S487C	ENSP00000297579:S487C	S	+	2	0	DCAF13	104521593	0.988000	0.35896	0.998000	0.56505	0.984000	0.73092	4.477000	0.60223	2.587000	0.87381	0.655000	0.94253	TCT	DCAF13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.348	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380797.2	C	NM_015420		104452417	1	no_errors	ENST00000297579	ensembl	human	known	70_37	missense	SNP	0.952	G	G	104452417	C	G	104452417	3	3	116	1	0	0	0	0	1	0	0	0	4271	913	32	1	1494	1	DCAF13	8	104452417	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	8929693	104452417	41911605	117	17336										
RIMS2	9699	genome.wustl.edu	37	chr8	105010465	105010465	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtcagaccattgaccatcatCacagggatggcaggtatatt	10	9	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:105010465C>T	ENST00000436393.2	+	16	2672	c.2431C>T	c.(2431-2433)Cac>Tac	p.H811Y	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Missense_Mutation_p.H825Y|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1095	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGACCATCATCACAGGGATGG	0.363										HNSCC(12;0.0054)																																							0													126	110	115					8																	105010465		1883	4105	5988	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2431C>T	8.37:g.105010465C>T	ENSP00000390665:p.His811Tyr		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.H811Y	ENST00000436393.2	37	c.2431		8	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780898	0.49891	.	.	ENSG00000176406	ENST00000329869;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T	0.18657	2.31;2.2;2.66	4.81	4.81	0.61882	.	.	.	.	.	T	0.06781	0.0173	N	0.00186	-1.895	0.80722	D	1	B;B	0.18310	0.0;0.027	B;B	0.19946	0.001;0.027	T	0.38693	-0.9649	9	0.51188	T	0.08	.	16.8103	0.85717	0.0:1.0:0.0:0.0	.	811;825	D6RA03;Q9UQ26-3	.;.	Y	1048;825;825;811	ENSP00000423559:H825Y;ENSP00000386228:H825Y;ENSP00000390665:H811Y	ENSP00000332184:H1048Y	H	+	1	0	RIMS2	105079641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.127000	0.57944	2.496000	0.84212	0.650000	0.86243	CAC	RIMS2	-	NULL		0.363	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	C	NM_001100117		105010465	1	no_errors	ENST00000436393	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	105010465	C	T	105010465	3	4	116	1	0	0	0	0	1	0	0	0	13398	826	29	1	3293	1	RIMS2	8	105010465	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	558048	105010465	41353557	118	17337										
TRPS1	7227	genome.wustl.edu	37	chr8	116616498	116616498	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtacacttgtgaatgttatgGagctgttgataatgacggag	13	4	0	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:116616498G>A	ENST00000220888.5	-	3	1818	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Silent_p.L557L|TRPS1_ENST00000519674.1_Silent_p.L553L|TRPS1_ENST00000395715.3_Silent_p.L566L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	553					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAATGTTATGGAGCTGTTGAT	0.433									Langer-Giedion syndrome																																								0													85	85	85					8																	116616498		1930	4136	6066	SO:0001819	synonymous_variant	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1659C>T	8.37:g.116616498G>A			B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.L566	ENST00000220888.5	37	c.1698		8																																																																																			TRPS1	-	smart_Znf_C2H2-like		0.433	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116616498	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	silent	SNP	1.000	A	A	116616498	G	A	116616498	2	1	116	1	0	0	0	0	0	0	0	1	16624	1161	41	1		1	TRPS1	8	116616498	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	11606033	116616498	29747524	119	17338										
FER1L6	654463	genome.wustl.edu	37	chr8	125131950	125131950	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atcatcattgctttcattctCatcatcctcatcatcttcct	1	14	8	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:125131950C>G	ENST00000522917.1	+	41	5699	c.5493C>G	c.(5491-5493)ctC>ctG	p.L1831L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1831L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1831						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ctttcattctcatcatcctca	0.478																																																	0													232	244	240					8																	125131950		2082	4207	6289	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5493C>G	8.37:g.125131950C>G				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L1831	ENST00000522917.1	37	c.5493	CCDS43767.1	8																																																																																			FER1L6	-	superfamily_ABC_transptrTM_dom_typ1		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	C	NM_001039112		125131950	1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.851	G	G	125131950	C	G	125131950	2	3	116	1	0	0	0	0	0	0	0	1	5833	813	29	1		1	FER1L6	8	125131950	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	8515452	125131950	21232072	120	17339										
FER1L6	654463	genome.wustl.edu	37	chr8	125131974	125131974	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atcctcatcatcttcctcgtCcttttcatctacaccttgcc	2	17	5	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr8:125131974C>T	ENST00000522917.1	+	41	5723	c.5517C>T	c.(5515-5517)gtC>gtT	p.V1839V	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V1839V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1839						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcttcctcgtccttttcatcT	0.458																																																	0													208	220	216					8																	125131974		2078	4207	6285	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5517C>T	8.37:g.125131974C>T				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V1839	ENST00000522917.1	37	c.5517	CCDS43767.1	8																																																																																			FER1L6	-	superfamily_ABC_transptrTM_dom_typ1		0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	C	NM_001039112		125131974	1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.999	T	T	125131974	C	T	125131974	2	4	116	1	0	0	0	0	0	0	0	1	5833	842	30	1		1	FER1L6	8	125131974	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	24	125131974	21232048	121	17340										
ERMP1	79956	genome.wustl.edu	37	chr9	5787458	5787458	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctatccagaactgccatgcaGaggcctggagtccatgggag	13	11	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:5787458G>C	ENST00000339450.5	-	14	2611	c.2522C>G	c.(2521-2523)tCt>tGt	p.S841C	ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	841						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CTGCCATGCAGAGGCCTGGAG	0.473																																																	0													132	127	129					9																	5787458		2203	4300	6503	SO:0001583	missense	79956			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2522C>G	9.37:g.5787458G>C	ENSP00000340427:p.Ser841Cys		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.S841C	ENST00000339450.5	37	c.2522	CCDS34983.1	9	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377698	0.24944	.	.	ENSG00000099219	ENST00000339450	T	0.48522	0.81	5.9	5.0	0.66597	.	0.263099	0.44688	D	0.000440	T	0.34629	0.0904	L	0.34521	1.04	0.23572	N	0.997384	B	0.29835	0.258	B	0.20955	0.032	T	0.27938	-1.0059	10	0.49607	T	0.09	-10.794	11.0482	0.47872	0.07:0.131:0.799:0.0	.	841	Q7Z2K6	ERMP1_HUMAN	C	841	ENSP00000340427:S841C	ENSP00000340427:S841C	S	-	2	0	ERMP1	5777458	0.997000	0.39634	0.738000	0.30950	0.002000	0.02628	3.868000	0.56055	1.484000	0.48361	-0.182000	0.12963	TCT	ERMP1	-	NULL		0.473	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1	G	NM_024896		5787458	-1	no_errors	ENST00000339450	ensembl	human	known	70_37	missense	SNP	0.190	C	C	5787458	G	C	5787458	3	2	116	1	0	0	0	0	1	0	0	0	5248	942	33	1	200	1	ERMP1	9	5787458	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		5787458	135425973	122	17341										
DENND4C	55667	genome.wustl.edu	37	chr9	19346894	19346894	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agaacgttcaacttctttgtCagcactggtgcgttcttcgc	9	11	4	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:19346894C>T	ENST00000380432.2	+	18	3305	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L	DENND4C_ENST00000602925.1_Missense_Mutation_p.S1327L|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1376L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1091					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTTCTTTGTCAGCACTGGTG	0.463																																																	0													61	61	61					9																	19346894		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3272C>T	9.37:g.19346894C>T	ENSP00000369797:p.Ser1091Leu		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S1091L	ENST00000380432.2	37	c.3272		9	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115206	0.56505	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.52295	0.67;0.67	5.46	5.46	0.80206	.	4.612340	0.00857	N	0.001886	T	0.47563	0.1452	N	0.22421	0.69	0.50467	D	0.999874	B;B;B;B	0.28055	0.045;0.161;0.199;0.124	B;B;B;B	0.30572	0.029;0.079;0.117;0.05	T	0.08911	-1.0699	10	0.37606	T	0.19	-10.9675	19.2992	0.94136	0.0:1.0:0.0:0.0	.	421;1091;273;1091	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	L	1091;564;273;421;564;273;88	ENSP00000305795:S564L;ENSP00000443804:S421L	ENSP00000305795:S564L	S	+	2	0	DENND4C	19336894	1.000000	0.71417	0.970000	0.41538	0.540000	0.34992	5.778000	0.68940	2.564000	0.86499	0.585000	0.79938	TCA	DENND4C	-	NULL		0.463	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19346894	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19346894	C	T	19346894	3	4	116	1	0	0	0	0	1	0	0	0	4445	838	29	1	3342	1	DENND4C	9	19346894	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	13559436	19346894	121866537	123	17342										
ZNF658	26149	genome.wustl.edu	37	chr9	40774575	40774575	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttctcctgttagaaaactctGaggtgtaatacaaattgtct	7	7	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:40774575G>A	ENST00000602553.1	-	5	994	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	ZNF658_ENST00000441795.1_Nonsense_Mutation_p.Q232*|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.Q234*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAAAACTCTGAGGTGTAATA	0.328																																																	0													24	28	27					9																	40774575		2166	4238	6404	SO:0001587	stop_gained	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.700C>T	9.37:g.40774575G>A	ENSP00000473484:p.Gln234*		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q234*	ENST00000602553.1	37	c.700	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	g	14.72	2.620219	0.46736	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	.	.	.	1.66	-3.32	0.04973	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	1.0361	0.01548	0.1928:0.2177:0.3869:0.2026	.	.	.	.	X	232;234	.	ENSP00000366853:Q234X	Q	-	1	0	ZNF658	40764575	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.370000	0.00245	-0.934000	0.03733	-0.782000	0.03352	CAG	ZNF658	-	NULL		0.328	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	G	NM_033160		40774575	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	40774575	G	A	40774575	4	1	116	1	0	0	0	0	0	1	0	0	18099	1299	45	1	2483	1	ZNF658	9	40774575	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	21427681	40774575	100438856	124	17343										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100080841	100080841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aacgtcctgcagcaaaggcgGctgaagcatctctgcaccat	10	13	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:100080841G>A	ENST00000357054.1	+	24	2540	c.1605G>A	c.(1603-1605)cgG>cgA	p.R535R	CCDC180_ENST00000411667.2_Silent_p.R393R|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.R396R|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.R396R|CCDC180_ENST00000395220.1_Intron			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	535						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGCAAAGGCGGCTGAAGCATC	0.602																																																	0													78	63	68					9																	100080841		2203	4300	6503	SO:0001819	synonymous_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1605G>A	9.37:g.100080841G>A			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.R396	ENST00000357054.1	37	c.1188		9																																																																																			C9orf174	-	NULL		0.602	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100080841	1	no_errors	ENST00000375202	ensembl	human	known	70_37	silent	SNP	0.163	A	A	100080841	G	A	100080841	2	1	116	1	0	0	0	0	0	0	0	1	8260	1190	42	4		4	KIAA1529	9	100080841	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	59306266	100080841	41132590	125	17344										
ABCA1	19	genome.wustl.edu	37	chr9	107549160	107549160	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	actttactacggacctatgaGatgtaagcactactgatctc	7	10	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:107549160G>A	ENST00000374736.3	-	47	6696	c.6302C>T	c.(6301-6303)tCt>tTt	p.S2101F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2101	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGACCTATGAGATGTAAGCAC	0.438																																																	0													109	100	103					9																	107549160		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6302C>T	9.37:g.107549160G>A	ENSP00000363868:p.Ser2101Phe		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2101F	ENST00000374736.3	37	c.6302	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.310731	0.95629	.	.	ENSG00000165029	ENST00000374736	D	0.97976	-4.64	5.99	5.99	0.97316	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98408	1.0571	10	0.87932	D	0	.	20.5371	0.99232	0.0:0.0:1.0:0.0	.	2101	O95477	ABCA1_HUMAN	F	2101	ENSP00000363868:S2101F	ENSP00000363868:S2101F	S	-	2	0	ABCA1	106588981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.824000	0.99380	2.857000	0.98124	0.650000	0.86243	TCT	ABCA1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107549160	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107549160	G	A	107549160	3	1	116	1	0	0	0	0	1	0	0	0	28	942	33	1	499	1	ABCA1	9	107549160	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	7468319	107549160	33664271	126	17345										
AMBP	259	genome.wustl.edu	37	chr9	116823271	116823271	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaacttgttcccgttgccctGgcagcccccgtaggggaaga	13	13	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:116823271G>A	ENST00000265132.3	-	9	1223	c.961C>T	c.(961-963)Cag>Tag	p.Q321*		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	321	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCGTTGCCCTGGCAGCCCCCG	0.622																																																	0													80	81	81					9																	116823271		2203	4300	6503	SO:0001587	stop_gained	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.961C>T	9.37:g.116823271G>A	ENSP00000265132:p.Gln321*		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Nonsense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin	p.Q321*	ENST00000265132.3	37	c.961	CCDS6800.1	9	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815358	0.90790	.	.	ENSG00000106927	ENST00000265132	.	.	.	5.98	2.99	0.34606	.	0.459579	0.26899	N	0.021922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.2286	0.59929	0.0:0.0:0.5464:0.4536	.	.	.	.	X	321	.	ENSP00000265132:Q321X	Q	-	1	0	AMBP	115863092	0.998000	0.40836	0.970000	0.41538	0.702000	0.40608	0.627000	0.24506	0.335000	0.23614	0.655000	0.94253	CAG	AMBP	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m		0.622	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	HGNC	protein_coding	OTTHUMT00000053758.2	G	NM_001633		116823271	-1	no_errors	ENST00000265132	ensembl	human	known	70_37	nonsense	SNP	0.989	A	A	116823271	G	A	116823271	4	1	116	1	0	0	0	0	0	1	0	0	564	1357	47	4	105	4	AMBP	9	116823271	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	9274111	116823271	24390160	127	17346										
COL27A1	85301	genome.wustl.edu	37	chr9	116930429	116930429	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaccctgggggctccttcctCtttgggaagatgaacccgca	12	13	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:116930429C>G	ENST00000356083.3	+	3	985	c.594C>G	c.(592-594)ctC>ctG	p.L198L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	198	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTCCTTCCTCTTTGGGAAGA	0.607																																																	0													41	41	41					9																	116930429		2202	4300	6502	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.594C>G	9.37:g.116930429C>G			Q66K43|Q96JF7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.L198	ENST00000356083.3	37	c.594	CCDS6802.1	9																																																																																			COL27A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		116930429	1	no_errors	ENST00000356083	ensembl	human	known	70_37	silent	SNP	0.997	G	G	116930429	C	G	116930429	2	3	116	1	0	0	0	0	0	0	0	1	3690	900	32	1		1	COL27A1	9	116930429	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	107158	116930429	24283002	128	17347										
FBXW5	54461	genome.wustl.edu	37	chr9	139835782	139835782	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtaggcgcggtgcgcacgcaGagcccgcctcacctcccgca	13	18	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:139835782G>C	ENST00000325285.3	-	8	1457	c.1378C>G	c.(1378-1380)Ctg>Gtg	p.L460V	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	460					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGCGCACGCAGAGCCCGCCTC	0.672																																																	0													44	38	40					9																	139835782		2202	4298	6500	SO:0001583	missense	54461			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1378C>G	9.37:g.139835782G>C	ENSP00000313034:p.Leu460Val		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L460V	ENST00000325285.3	37	c.1378	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022761	0.75275	.	.	ENSG00000159069	ENST00000325285	T	0.69926	-0.44	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.79913	0.4528	L	0.61387	1.9	0.80722	D	1	D;P	0.69078	0.997;0.671	D;B	0.78314	0.991;0.306	T	0.80908	-0.1172	10	0.49607	T	0.09	-0.2241	17.795	0.88567	0.0:0.0:1.0:0.0	.	325;460	Q59ET5;Q969U6	.;FBXW5_HUMAN	V	460	ENSP00000313034:L460V	ENSP00000313034:L460V	L	-	1	2	FBXW5	138955603	1.000000	0.71417	0.955000	0.39395	0.884000	0.51177	4.299000	0.59073	2.204000	0.70986	0.561000	0.74099	CTG	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat		0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	G	NM_018998		139835782	-1	no_errors	ENST00000325285	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139835782	G	C	139835782	3	2	116	1	0	0	0	0	1	0	0	0	5786	933	33	1	330	1	FBXW5	9	139835782	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	22905353	139835782	1377649	129	17348										
FBXW5	54461	genome.wustl.edu	37	chr9	139836132	139836132	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tggtgtggcaggatctgcttGatgcctgcagggagggctac	17	8	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:139836132G>C	ENST00000325285.3	-	7	1180	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	367					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGATCTGCTTGATGCCTGCAG	0.637																																																	0													51	41	44					9																	139836132		2166	4268	6434	SO:0001583	missense	54461			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1101C>G	9.37:g.139836132G>C	ENSP00000313034:p.Ile367Met		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I367M	ENST00000325285.3	37	c.1101	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622127	0.46840	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.77877	-1.13;1.33	4.91	2.01	0.26516	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.105315	0.64402	D	0.000006	T	0.78947	0.4364	M	0.62723	1.935	0.50467	D	0.999878	D;D	0.61080	0.986;0.989	P;P	0.57057	0.757;0.812	T	0.74592	-0.3614	10	0.38643	T	0.18	-6.5612	5.6545	0.17635	0.3474:0.0:0.523:0.1296	.	232;367	Q59ET5;Q969U6	.;FBXW5_HUMAN	M	367;202	ENSP00000313034:I367M;ENSP00000409102:I202M	ENSP00000313034:I367M	I	-	3	3	FBXW5	138955953	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.191000	0.32138	0.597000	0.29811	-0.254000	0.11334	ATC	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH		0.637	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	G	NM_018998		139836132	-1	no_errors	ENST00000325285	ensembl	human	known	70_37	missense	SNP	0.994	C	C	139836132	G	C	139836132	3	2	116	1	0	0	0	0	1	0	0	0	5786	1280	45	1	611	1	FBXW5	9	139836132	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	350	139836132	1377299	130	17349										
SSNA1	8636	genome.wustl.edu	37	chr9	140084301	140084301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgctcagcgttctcaagaggGaagctgggaacctgaccaag	13	10	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr9:140084301G>A	ENST00000322310.5	+	3	375	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	TPRN_ENST00000541945.1_5'Flank|ANAPC2_ENST00000323927.2_5'Flank|SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	99					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		TCTCAAGAGGGAAGCTGGGAA	0.592																																																	0													60	62	61					9																	140084301		2202	4300	6502	SO:0001583	missense	8636			Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"Sjogren's syndrome nuclear autoantigen 1"			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.295G>A	9.37:g.140084301G>A	ENSP00000313752:p.Glu99Lys		Q5VSG0|Q6FG70|Q9BVW8	Missense_Mutation	SNP	NULL	p.E99K	ENST00000322310.5	37	c.295	CCDS7034.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090235	0.76756	.	.	ENSG00000176101	ENST00000322310	.	.	.	3.54	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.85945	2.785	0.50313	D	0.999865	D	0.55605	0.972	P	0.51453	0.67	T	0.74386	-0.3682	9	0.72032	D	0.01	-12.7462	10.4707	0.44635	0.0:0.0:1.0:0.0	.	99	O43805	SSNA1_HUMAN	K	99	.	ENSP00000313752:E99K	E	+	1	0	SSNA1	139204122	1.000000	0.71417	0.997000	0.53966	0.438000	0.31896	4.892000	0.63193	1.813000	0.52934	0.462000	0.41574	GAA	SSNA1	-	NULL		0.592	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSNA1	HGNC	protein_coding	OTTHUMT00000055311.1	G	NM_003731		140084301	1	no_errors	ENST00000322310	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140084301	G	A	140084301	3	1	116	1	0	0	0	0	1	0	0	0	15217	1175	41	1	305	1	SSNA1	9	140084301	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	248169	140084301	1129130	131	17350										
MCM10	55388	genome.wustl.edu	37	chr10	13234536	13234536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aagcagcggatgttggagatGaggagaaggaaatcagaaga	16	3	1	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:13234536G>C	ENST00000484800.2	+	13	1819	c.1716G>C	c.(1714-1716)atG>atC	p.M572I	MCM10_ENST00000378694.1_Missense_Mutation_p.M571I|MCM10_ENST00000378714.3_Missense_Mutation_p.M571I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	572					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGTTGGAGATGAGGAGAAGGA	0.498																																																	0													101	106	105					10																	13234536		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1716G>C	10.37:g.13234536G>C	ENSP00000418268:p.Met572Ile		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.M572I	ENST00000484800.2	37	c.1716	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	G	6.645	0.487453	0.12641	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.28666	1.6;1.6;1.6	5.36	1.38	0.22167	Replication factor Mcm10 (1);	0.563238	0.21415	N	0.074908	T	0.26048	0.0635	M	0.67953	2.075	0.24060	N	0.996015	B;B;B	0.12013	0.002;0.004;0.005	B;B;B	0.14023	0.007;0.006;0.01	T	0.22730	-1.0208	10	0.21540	T	0.41	-4.3112	6.2701	0.20949	0.4275:0.1316:0.441:0.0	.	571;571;572	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	571;572;572;571	ENSP00000367986:M571I;ENSP00000418268:M572I;ENSP00000367966:M571I	ENSP00000354945:M572I	M	+	3	0	MCM10	13274542	0.984000	0.35163	0.997000	0.53966	0.570000	0.35934	0.166000	0.16583	0.259000	0.21709	-0.158000	0.13435	ATG	MCM10	-	pfam_Rep_factor_Mcm10		0.498	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	G	NM_182751		13234536	1	no_errors	ENST00000361282	ensembl	human	known	70_37	missense	SNP	0.576	C	C	13234536	G	C	13234536	3	2	116	1	0	0	0	0	1	0	0	0	9408	1290	45	1	1762	1	MCM10	10	13234536	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		13234536	122300211	132	17351										
APBB1IP	54518	genome.wustl.edu	37	chr10	26802469	26802469	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccttttcttatttcatcagaGaggttttttgaagaccatga	7	7	3	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:26802469G>A	ENST00000376236.4	+	8	1148	c.693G>A	c.(691-693)gaG>gaA	p.E231E		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	231	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTCATCAGAGAGGTTTTTTG	0.338																																																	0													66	70	68					10																	26802469		2203	4300	6503	SO:0001630	splice_region_variant	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.692-1G>A	10.37:g.26802469G>A			Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.E231	ENST00000376236.4	37	c.693	CCDS31167.1	10																																																																																			APBB1IP	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.338	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	G	NM_019043	Silent	26802469	1	no_errors	ENST00000376236	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26802469	G	A	26802469	5	1	116	1	0	0	0	0	0	0	1	0	760	956	33	1	715	1	APBB1IP	10	26802469	Splice_Site	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	13567933	26802469	108732278	133	17352										
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43654206	43654206	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aagggcacacagtatgaactCttttttaagaaagcagacct	8	8	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:43654206C>G	ENST00000374466.3	+	3	1040	c.705C>G	c.(703-705)ctC>ctG	p.L235L	CSGALNACT2_ENST00000374464.1_Silent_p.L235L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	235					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGTATGAACTCTTTTTTAAGA	0.398																																																	0													108	103	105					10																	43654206		2203	4300	6503	SO:0001819	synonymous_variant	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.705C>G	10.37:g.43654206C>G			B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	pfam_Chond_GalNAc	p.L235	ENST00000374466.3	37	c.705	CCDS7201.1	10																																																																																			CSGALNACT2	-	pfam_Chond_GalNAc		0.398	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	C	NM_018590		43654206	1	no_errors	ENST00000374466	ensembl	human	known	70_37	silent	SNP	0.824	G	G	43654206	C	G	43654206	2	3	116	1	0	0	0	0	0	0	0	1	3944	900	32	1		1	CSGALNACT2	10	43654206	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	16851737	43654206	91880541	134	17353										
ANUBL1	93550	genome.wustl.edu	37	chr10	46147460	46147460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgcatagccaaaactagcttCaaggtacacccttctgaaat	6	12	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:46147460C>T	ENST00000344646.5	-	4	497	c.282G>A	c.(280-282)ttG>ttA	p.L94L	ZFAND4_ENST00000374366.3_Silent_p.L20L|ZFAND4_ENST00000374371.2_Silent_p.L94L|ZFAND4_ENST00000374370.1_5'Flank|ZFAND4_ENST00000335258.7_Silent_p.L94L	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	94	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						zinc ion binding (GO:0008270)										AAACTAGCTTCAAGGTACACC	0.333																																																	0													76	73	74					10																	46147460		2203	4300	6503	SO:0001819	synonymous_variant	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.282G>A	10.37:g.46147460C>T			A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.L94	ENST00000344646.5	37	c.282	CCDS7214.1	10																																																																																			ZFAND4	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.333	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	C	NM_174890		46147460	-1	no_errors	ENST00000344646	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46147460	C	T	46147460	2	4	116	1	0	0	0	0	0	0	0	1	713	825	29	1		1	ANUBL1	10	46147460	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2493254	46147460	89387287	135	17354										
A1CF	29974	genome.wustl.edu	37	chr10	52587925	52587925	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttgaattccttttcaatcatCtcttcagaggtagacagcat	6	9	4	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:52587925C>G	ENST00000373993.1	-	5	779	c.735G>C	c.(733-735)gaG>gaC	p.E245D	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.E245D|A1CF_ENST00000374001.2_Missense_Mutation_p.E245D|A1CF_ENST00000373995.3_Missense_Mutation_p.E253D|A1CF_ENST00000395489.2_Missense_Mutation_p.E238D|A1CF_ENST00000373997.3_Missense_Mutation_p.E245D|A1CF_ENST00000395495.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	245	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCAATCATCTCTTCAGAGG	0.368																																																	0													135	131	132					10																	52587925		2202	4300	6502	SO:0001583	missense	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.735G>C	10.37:g.52587925C>G	ENSP00000363105:p.Glu245Asp		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E245D	ENST00000373993.1	37	c.735	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721445	0.48728	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	5.48	2.6	0.31112	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.39566	1.225	0.58432	D	0.999996	B;B;P;B	0.40619	0.285;0.173;0.724;0.16	B;B;B;B	0.37091	0.091;0.241;0.183;0.091	T	0.27054	-1.0085	10	0.33141	T	0.24	.	9.6328	0.39789	0.0:0.7746:0.0:0.2254	.	238;245;245;253	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	D	245;245;245;253;245;228;238	ENSP00000363113:E245D;ENSP00000363105:E245D;ENSP00000363109:E245D;ENSP00000363107:E253D;ENSP00000282641:E245D;ENSP00000378868:E238D	ENSP00000282641:E245D	E	-	3	2	A1CF	52257931	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.837000	0.39201	0.271000	0.22005	-0.251000	0.11542	GAG	A1CF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.368	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	C	NM_014576		52587925	-1	no_errors	ENST00000282641	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52587925	C	G	52587925	3	3	116	1	0	0	0	0	1	0	0	0	2	912	32	1	1077	1	A1CF	10	52587925	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	6440465	52587925	82946822	136	17355										
MYST4	23522	genome.wustl.edu	37	chr10	76781645	76781645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccctccccacttaggctgagCggctaatggaacaagctagc	10	14	0	1	rs142309185		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:76781645C>T	ENST00000287239.4	+	16	3517	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W	KAT6B_ENST00000372711.1_Missense_Mutation_p.R827W|KAT6B_ENST00000372714.1_Missense_Mutation_p.R718W|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.R718W|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.R718W|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1010					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTAGGCTGAGCGGCTAATGGA	0.488											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	8e-04	0	5008	,	,		20455	0		0	False		,,,				2504	0																0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	56	56	56		3028	5.1	1	10	dbSNP_134	56	0,8600		0,0,4300	no	missense	KAT6B	NM_012330.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1010/2074	76781645	2,13004	2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3028C>T	10.37:g.76781645C>T	ENSP00000287239:p.Arg1010Trp	1170	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R1010W	ENST00000287239.4	37	c.3028	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380741	0.42207	4.54E-4	0.0	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78816	2.09;2.09;1.95;2.09;-1.21	5.98	5.06	0.68205	.	0.146450	0.31566	N	0.007425	D	0.83243	0.5212	L	0.42245	1.32	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.69479	0.964;0.855;0.952	D	0.84821	0.0796	10	0.66056	D	0.02	-10.3217	14.7477	0.69501	0.1448:0.8552:0.0:0.0	.	827;718;1010	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	W	718;718;1010;718;827	ENSP00000361810:R718W;ENSP00000361809:R718W;ENSP00000287239:R1010W;ENSP00000361799:R718W;ENSP00000361796:R827W	ENSP00000287239:R1010W	R	+	1	2	KAT6B	76451651	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.078000	0.64425	1.490000	0.48466	0.655000	0.94253	CGG	KAT6B	-	NULL		0.488	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	C	NM_012330		76781645	1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76781645	C	T	76781645	3	4	116	1	0	0	0	0	1	0	0	0	10128	759	27	2	3082	2	MYST4	10	76781645	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	24193720	76781645	58753102	137	17356										
EIF5AL1	143244	genome.wustl.edu	37	chr10	81272687	81272687	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gacttccagctgattggcatCcaggatgggtacctatcact	10	11	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:81272687C>G	ENST00000520547.2	+	1	331	c.282C>G	c.(280-282)atC>atG	p.I94M	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	94					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGATTGGCATCCAGGATGGGT	0.493																																																	0													63	63	63					10																	81272687		2202	4296	6498	SO:0001583	missense	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.282C>G	10.37:g.81272687C>G	ENSP00000430706:p.Ile94Met			Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.I94M	ENST00000520547.2	37	c.282	CCDS53546.1	10	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349255	0.24426	.	.	ENSG00000253626	ENST00000520547	T	0.56275	0.47	1.02	-0.0575	0.13801	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.65554	0.2702	M	0.85462	2.755	0.30478	N	0.772667	P	0.52170	0.951	P	0.60789	0.879	T	0.62353	-0.6872	9	0.72032	D	0.01	.	3.3295	0.07079	0.0:0.4497:0.0:0.5503	.	94	Q6IS14	IF5AL_HUMAN	M	94	ENSP00000430706:I94M	ENSP00000430706:I94M	I	+	3	3	EIF5AL1	80942693	0.969000	0.33509	0.726000	0.30738	0.702000	0.40608	-0.271000	0.08572	0.542000	0.28846	0.372000	0.22366	ATC	EIF5AL1	-	pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A		0.493	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5AL1	HGNC	protein_coding	OTTHUMT00000048954.4	C	NM_001099692		81272687	1	no_errors	ENST00000520547	ensembl	human	known	70_37	missense	SNP	0.996	G	G	81272687	C	G	81272687	3	3	116	1	0	0	0	0	1	0	0	0	5055	845	30	1	284	1	EIF5AL1	10	81272687	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	4491042	81272687	54262060	138	17357										
ITPRIP	85450	genome.wustl.edu	37	chr10	106075739	106075739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggactgtggcgttctcccgcGggaacagcagcgggtggttg	18	10	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:106075739G>A	ENST00000337478.1	-	2	242	c.71C>T	c.(70-72)cCg>cTg	p.P24L	ITPRIP_ENST00000278071.2_Missense_Mutation_p.P24L|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.P24L	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	24						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GTTCTCCCGCGGGAACAGCAG	0.622																																																	0													59	54	56					10																	106075739		2203	4300	6503	SO:0001583	missense	85450			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.71C>T	10.37:g.106075739G>A	ENSP00000337178:p.Pro24Leu		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	NULL	p.P24L	ENST00000337478.1	37	c.71	CCDS7557.1	10	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206818	0.79127	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.65	5.65	0.86999	.	0.059746	0.64402	D	0.000002	T	0.17874	0.0429	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	P	0.50136	0.632	T	0.00199	-1.1928	10	0.87932	D	0	-12.3858	19.724	0.96154	0.0:0.0:1.0:0.0	.	24	Q8IWB1	IPRI_HUMAN	L	24	ENSP00000337178:P24L;ENSP00000278071:P24L;ENSP00000350915:P24L;ENSP00000414141:P24L	ENSP00000278071:P24L	P	-	2	0	ITPRIP	106065729	1.000000	0.71417	0.958000	0.39756	0.769000	0.43574	7.519000	0.81809	2.648000	0.89879	0.563000	0.77884	CCG	ITPRIP	-	NULL		0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	G	NM_033397		106075739	-1	no_errors	ENST00000278071	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106075739	G	A	106075739	3	1	116	1	0	0	0	0	1	0	0	0	7943	1116	39	2	1576	2	ITPRIP	10	106075739	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	24803052	106075739	29459008	139	17358										
SFXN4	119559	genome.wustl.edu	37	chr10	120920455	120920455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgaaaaagcttggggatcagGttgctgctgtcgggatgcac	15	8	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr10:120920455G>T	ENST00000355697.2	-	5	325	c.306C>A	c.(304-306)aaC>aaA	p.N102K	SFXN4_ENST00000330036.6_Missense_Mutation_p.N93K|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	102					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGGGGATCAGGTTGCTGCTGT	0.448																																																	0													174	169	171					10																	120920455		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.306C>A	10.37:g.120920455G>T	ENSP00000347924:p.Asn102Lys		Q6WSU4|Q86TD9	Missense_Mutation	SNP	pfam_Mtc	p.N102K	ENST00000355697.2	37	c.306	CCDS7610.1	10	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.053121	0.00394	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.27402	1.67;1.67	5.09	-9.82	0.00484	.	1.021060	0.07798	N	0.955948	T	0.13500	0.0327	N	0.12746	0.255	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.35276	-0.9795	10	0.40728	T	0.16	-6.9813	9.9765	0.41786	0.0886:0.7169:0.0875:0.1069	.	102	Q6P4A7	SFXN4_HUMAN	K	102;93	ENSP00000347924:N102K;ENSP00000333200:N93K	ENSP00000333200:N93K	N	-	3	2	SFXN4	120910445	0.081000	0.21417	0.267000	0.24556	0.210000	0.24377	-0.770000	0.04705	-1.355000	0.02186	-1.085000	0.02201	AAC	SFXN4	-	pfam_Mtc		0.448	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	HGNC	protein_coding	OTTHUMT00000050642.3	G	XM_058406		120920455	-1	no_errors	ENST00000355697	ensembl	human	known	70_37	missense	SNP	0.015	T	T	120920455	G	T	120920455	3	4	116	1	0	0	0	0	1	0	0	0	14227	1252	44	4	747	4	SFXN4	10	120920455	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	14844716	120920455	14614292	140	17359										
DNHD1	144132	genome.wustl.edu	37	chr11	6530458	6530458	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttcctagagaatcatctgctCttggctgtgccccactttgg	9	12	3	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:6530458C>T	ENST00000527990.2	+	4	1191	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	DNHD1_ENST00000354685.3_Silent_p.L397L|DNHD1_ENST00000254579.6_Silent_p.L397L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	397					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCATCTGCTCTTGGCTGTGC	0.393																																																	0													105	110	108					11																	6530458		2201	4296	6497	SO:0001819	synonymous_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1191C>T	11.37:g.6530458C>T			Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.L397	ENST00000527990.2	37	c.1191	CCDS44532.1	11																																																																																			DNHD1	-	NULL		0.393	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6530458	1	no_errors	ENST00000254579	ensembl	human	known	70_37	silent	SNP	0.395	T	T	6530458	C	T	6530458	2	4	116	1	0	0	0	0	0	0	0	1	4678	900	32	1		1	DNHD1	11	6530458	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		6530458	128476058	141	17360										
LRRC4C	57689	genome.wustl.edu	37	chr11	40137708	40137708	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gagcacacagaagggcaggtCtgagcccgcaccagaccagc	13	14	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:40137708C>T	ENST00000278198.2	-	2	2098	c.135G>A	c.(133-135)caG>caA	p.Q45Q	LRRC4C_ENST00000530763.1_Silent_p.Q45Q|LRRC4C_ENST00000527150.1_Silent_p.Q45Q|LRRC4C_ENST00000528697.1_Silent_p.Q45Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	45	LRRNT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGGCAGGTCTGAGCCCGCA	0.542																																																	0													67	59	62					11																	40137708		2203	4300	6503	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.135G>A	11.37:g.40137708C>T			A8K0T1|Q7L0N3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q45	ENST00000278198.2	37	c.135	CCDS31464.1	11																																																																																			LRRC4C	-	NULL		0.542	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	C	NM_020929		40137708	-1	no_errors	ENST00000527150	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40137708	C	T	40137708	2	4	116	1	0	0	0	0	0	0	0	1	9031	912	32	1		1	LRRC4C	11	40137708	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	33607250	40137708	94868808	142	17361										
RCOR2	283248	genome.wustl.edu	37	chr11	63682379	63682379	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggggccaaggctcacctgctCaatgttgtagccatgcttct	11	12	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:63682379C>G	ENST00000301459.4	-	4	700	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	105	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTCACCTGCTCAATGTTGTAG	0.632																																																	0													120	105	110					11																	63682379		2201	4297	6498	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.313G>C	11.37:g.63682379C>G	ENSP00000301459:p.Glu105Gln		Q96FP3	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E105Q	ENST00000301459.4	37	c.313	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	c	28.7	4.943877	0.92593	.	.	ENSG00000167771	ENST00000301459	T	0.42900	0.96	4.65	4.65	0.58169	ELM2 domain (1);	0.126233	0.51477	D	0.000087	T	0.64136	0.2571	M	0.72894	2.215	0.58432	D	0.999998	D	0.71674	0.998	D	0.75484	0.986	T	0.68834	-0.5304	10	0.72032	D	0.01	.	16.6727	0.85271	0.0:1.0:0.0:0.0	.	105	Q8IZ40	RCOR2_HUMAN	Q	105	ENSP00000301459:E105Q	ENSP00000301459:E105Q	E	-	1	0	RCOR2	63438955	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	7.715000	0.84713	2.289000	0.77006	0.556000	0.70494	GAG	RCOR2	-	pfscan_ELM2_dom		0.632	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCOR2	HGNC	protein_coding	OTTHUMT00000318233.1	C	NM_173587		63682379	-1	no_errors	ENST00000301459	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63682379	C	G	63682379	3	3	116	1	0	0	0	0	1	0	0	0	13213	835	29	1	1294	1	RCOR2	11	63682379	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	23544671	63682379	71324137	143	17362										
FKBP2	2286	genome.wustl.edu	37	chr11	64010730	64010730	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccccagaaccagccctttgtCttctcccttggcacaggcca	7	18	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:64010730C>A	ENST00000394540.3	+	3	701	c.231C>A	c.(229-231)gtC>gtA	p.V77V	FKBP2_ENST00000309366.4_Silent_p.V77V|RP11-783K16.5_ENST00000544553.1_RNA|FKBP2_ENST00000449942.2_Silent_p.V77V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	77	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						AGCCCTTTGTCTTCTCCCTTG	0.622																																																	0													53	54	54					11																	64010730		2201	4297	6498	SO:0001819	synonymous_variant	2286			M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"FK506 binding protein 2 (13kD)", "peptidyl-prolyl cis-trans isomerase", "rapamycin-binding protein", "proline isomerase"	186946	"FK506-binding protein 2 (13kD)"			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.231C>A	11.37:g.64010730C>A			Q5BJH9|Q9BTS7	Silent	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.V77	ENST00000394540.3	37	c.231	CCDS8063.1	11																																																																																			FKBP2	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.622	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP2	HGNC	protein_coding	OTTHUMT00000396401.2	C	NM_004470		64010730	1	no_errors	ENST00000309366	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64010730	C	A	64010730	2	1	116	1	0	0	0	0	0	0	0	1	5926	900	32	3		3	FKBP2	11	64010730	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	328351	64010730	70995786	144	17363										
FZD4	8322	genome.wustl.edu	37	chr11	86663136	86663136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tggcccacacagccatccagAtatcagtgaactccttggct	8	14	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:86663136A>G	ENST00000531380.1	-	2	967	c.662T>C	c.(661-663)aTc>aCc	p.I221T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	221					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCATCCAGATATCAGTGAA	0.517																																																	0													90	78	82					11																	86663136		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.662T>C	11.37:g.86663136A>G	ENSP00000434034:p.Ile221Thr		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.I221T	ENST00000531380.1	37	c.662	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245339	0.39697	.	.	ENSG00000174804	ENST00000531380	D	0.81739	-1.53	5.74	4.62	0.57501	GPCR, family 2-like (1);	0.437153	0.26723	N	0.022840	D	0.83243	0.5212	L	0.59912	1.85	0.29524	N	0.853275	P	0.35575	0.51	P	0.48982	0.597	T	0.78602	-0.2140	9	.	.	.	.	11.6134	0.51074	0.9306:0.0:0.0694:0.0	.	221	Q9ULV1	FZD4_HUMAN	T	221	ENSP00000434034:I221T	.	I	-	2	0	FZD4	86340784	0.999000	0.42202	0.134000	0.22075	0.926000	0.56050	4.333000	0.59285	1.016000	0.39470	0.533000	0.62120	ATC	FZD4	-	pfam_Frizzled,pfscan_GPCR_2-like		0.517	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	A	NM_012193		86663136	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	missense	SNP	0.381	G	G	86663136	A	G	86663136	3	3	116	1	0	0	0	0	1	0	0	0	6150	333	12	5	955	5	FZD4	11	86663136	Missense_Mutation	SNP	A	TCGA-EK-A3GJ-01A-21D-A20U-09	22652406	86663136	48343380	145	17364										
CEP57	9702	genome.wustl.edu	37	chr11	95546186	95546186	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agaaagtgtgaaaaccttgtCtagagaaacaattgaatata	8	4	1	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:95546186C>G	ENST00000325542.5	+	3	531	c.293C>G	c.(292-294)tCt>tGt	p.S98C	CEP57_ENST00000541150.1_Missense_Mutation_p.S89C|CEP57_ENST00000538658.1_Missense_Mutation_p.S98C|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.S98C|CEP57_ENST00000537677.1_Missense_Mutation_p.S71C	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	98	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAACCTTGTCTAGAGAAACA	0.363									Mosaic Variegated Aneuploidy Syndrome																																								0													71	72	72					11																	95546186		2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.293C>G	11.37:g.95546186C>G	ENSP00000317902:p.Ser98Cys		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.S98C	ENST00000325542.5	37	c.293	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955221	0.73902	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;T;T;T	0.78246	0.59;0.59;0.59;-1.16;0.59;0.59;0.59	5.98	5.98	0.97165	.	0.152498	0.46442	D	0.000300	D	0.87505	0.6194	M	0.71036	2.16	0.42105	D	0.991357	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.964;0.983;0.989;0.98	D	0.88162	0.2858	10	0.87932	D	0	-0.339	16.8826	0.86067	0.0:0.8637:0.1362:0.0	.	89;98;98;98	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	C	71;98;98;89;71;98;89	ENSP00000441392:S71C;ENSP00000317902:S98C;ENSP00000317487:S98C;ENSP00000438065:S89C;ENSP00000445821:S71C;ENSP00000445706:S98C;ENSP00000443436:S89C	ENSP00000317487:S98C	S	+	2	0	CEP57	95185834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.088000	0.57678	2.838000	0.97847	0.591000	0.81541	TCT	CEP57	-	NULL		0.363	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	C	NM_014679		95546186	1	no_errors	ENST00000325542	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95546186	C	G	95546186	3	3	116	1	0	0	0	0	1	0	0	0	3261	913	32	1	303	1	CEP57	11	95546186	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	8883050	95546186	39460330	146	17365										
YAP1	10413	genome.wustl.edu	37	chr11	101981896	101981896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggagcccaaatcccactcccGacaggtaacctcgttgcccc	8	18	0	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:101981896G>A	ENST00000282441.5	+	1	705	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	YAP1_ENST00000537274.1_Missense_Mutation_p.R106Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R106Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R106Q|YAP1_ENST00000524575.1_5'Flank|YAP1_ENST00000531439.1_Missense_Mutation_p.R106Q|RP11-732A21.2_ENST00000566440.1_RNA	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	106					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCCCACTCCCGACAGGTAACC	0.701																																					Colon(50;247 1103 7861 28956)												0													23	28	26					11																	101981896		2180	4268	6448	SO:0001583	missense	10413				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.317G>A	11.37:g.101981896G>A	ENSP00000282441:p.Arg106Gln		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R106Q	ENST00000282441.5	37	c.317	CCDS44716.1	11	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942846	0.53079	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439	T;T	0.50813	0.73;0.74	2.53	2.53	0.30540	.	0.159451	0.41294	U	0.000908	T	0.47838	0.1467	M	0.74467	2.265	0.80722	D	1	B;P;B;B	0.40083	0.188;0.702;0.033;0.196	B;B;B;B	0.40864	0.014;0.342;0.003;0.011	T	0.49881	-0.8892	10	0.23302	T	0.38	.	13.0242	0.58806	0.0:0.0:1.0:0.0	.	106;106;106;106	E9PRV2;P46937-2;P46937;P46937-3	.;.;YAP1_HUMAN;.	Q	106;106;106;106;21;106	ENSP00000434134:R106Q;ENSP00000331023:R106Q	ENSP00000282441:R106Q	R	+	2	0	YAP1	101487106	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.793000	0.85851	1.410000	0.46936	0.289000	0.19496	CGA	YAP1	-	NULL		0.701	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	G	NM_006106		101981896	1	no_errors	ENST00000282441	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101981896	G	A	101981896	3	1	116	1	0	0	0	0	1	0	0	0	17497	1058	37	1	319	1	YAP1	11	101981896	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	6435710	101981896	33024620	147	17366										
GRAMD1B	57476	genome.wustl.edu	37	chr11	123476185	123476185	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gagcagtgaggcccccgtctCggtatgggcagtcagccttt	14	12	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr11:123476185C>T	ENST00000529750.1	+	9	1220	c.893C>T	c.(892-894)tCg>tTg	p.S298L	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000322282.7_Splice_Site_p.S298L|GRAMD1B_ENST00000456860.2_Splice_Site_p.S305L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	298						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S298*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCGTCTCGGTATGGGCA	0.562																																																	2	Substitution - Nonsense(2)	lung(2)											132	138	136					11																	123476185		2071	4191	6262	SO:0001630	splice_region_variant	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.894+1C>T	11.37:g.123476185C>T			Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.S298L	ENST00000529750.1	37	c.893	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635860	0.47049	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.33865	1.81;1.79;1.79;1.81;1.39	5.03	3.15	0.36227	.	0.311936	0.31577	N	0.007420	T	0.22399	0.0540	L	0.36672	1.1	0.58432	D	0.999992	B;B;B;B	0.33494	0.414;0.005;0.216;0.216	B;B;B;B	0.20184	0.028;0.001;0.012;0.012	T	0.04216	-1.0968	10	0.26408	T	0.33	.	9.3339	0.38038	0.0:0.8338:0.0:0.1662	.	258;305;298;305	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	L	305;305;298;298;258;294	ENSP00000402457:S305L;ENSP00000325628:S298L;ENSP00000436500:S298L;ENSP00000432987:S258L;ENSP00000434214:S294L	ENSP00000325628:S298L	S	+	2	0	GRAMD1B	122981395	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	4.944000	0.63561	0.528000	0.28580	0.305000	0.20034	TCG	GRAMD1B	-	NULL		0.562	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	C	XM_370660	Missense_Mutation	123476185	1	no_errors	ENST00000322282	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123476185	C	T	123476185	5	4	116	1	0	0	0	0	0	0	1	0	6768	898	31	1	927	1	GRAMD1B	11	123476185	Splice_Site	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	21494289	123476185	11530331	148	17367										
PZP	5858	genome.wustl.edu	37	chr12	9316798	9316798	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acagatacaataggattcttCtccctttgtattttgggaag	8	7	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:9316798C>T	ENST00000261336.2	-	20	2573	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	849					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TAGGATTCTTCTCCCTTTGTA	0.458																																					Melanoma(125;1402 1695 4685 34487 38571)												0													166	156	159					12																	9316798		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2545G>A	12.37:g.9316798C>T	ENSP00000261336:p.Glu849Lys		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E849K	ENST00000261336.2	37	c.2545	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019528	0.35606	.	.	ENSG00000126838	ENST00000261336	T	0.16457	2.34	3.61	-4.51	0.03483	.	1.041780	0.07672	N	0.935614	T	0.16599	0.0399	L	0.60455	1.87	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.36866	-0.9730	10	0.49607	T	0.09	.	9.9563	0.41668	0.0:0.7568:0.1244:0.1187	.	849	P20742	PZP_HUMAN	K	849	ENSP00000261336:E849K	ENSP00000261336:E849K	E	-	1	0	PZP	9208065	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-1.537000	0.02206	-0.886000	0.03966	0.467000	0.42956	GAA	PZP	-	pfam_SV_autoAg		0.458	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	C	NM_002864		9316798	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9316798	C	T	9316798	3	4	116	1	0	0	0	0	1	0	0	0	12899	922	32	1	1971	1	PZP	12	9316798	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		9316798	124535097	149	17368										
LRRK2	120892	genome.wustl.edu	37	chr12	40668470	40668470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgatgcattagagatgttatCcctggaaggtgctatggatt	12	5	0	2	rs202191866		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:40668470C>T	ENST00000298910.7	+	15	1800	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	LRRK2_ENST00000343742.2_Missense_Mutation_p.S581F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	581					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAGATGTTATCCCTGGAAGGT	0.348																																																	0													153	151	152					12																	40668470		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1742C>T	12.37:g.40668470C>T	ENSP00000298910:p.Ser581Phe		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.S581F	ENST00000298910.7	37	c.1742	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082051	0.55861	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.62639	0.01;0.01;0.01	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.237062	0.44483	D	0.000460	T	0.67277	0.2876	L	0.44542	1.39	0.20307	N	0.999911	P;D	0.56035	0.895;0.974	P;P	0.50617	0.548;0.646	T	0.62534	-0.6834	10	0.54805	T	0.06	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	581;581	E9PC85;Q5S007	.;LRRK2_HUMAN	F	329;581;581	ENSP00000398726:S329F;ENSP00000341930:S581F;ENSP00000298910:S581F	ENSP00000298910:S581F	S	+	2	0	LRRK2	38954737	0.992000	0.36948	0.808000	0.32385	0.541000	0.35023	3.547000	0.53663	2.833000	0.97629	0.585000	0.79938	TCC	LRRK2	-	superfamily_ARM-type_fold		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	C	XM_058513		40668470	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	0.334	T	T	40668470	C	T	40668470	3	4	116	1	0	0	0	0	1	0	0	0	9056	855	30	1	1800	1	LRRK2	12	40668470	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	31351672	40668470	93183425	150	17369										
SENP1	29843	genome.wustl.edu	37	chr12	48477376	48477376	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtcacacgttttccttacctCttctgctgtactaacatgtc	5	13	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:48477376C>T	ENST00000004980.5	-	6	1028	c.550G>A	c.(550-552)Gag>Aag	p.E184K	SENP1_ENST00000549518.1_Missense_Mutation_p.E184K|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.E184K|RNU6-1203P_ENST00000410703.1_RNA|SENP1_ENST00000551330.1_Missense_Mutation_p.E184K|SENP1_ENST00000549595.1_Missense_Mutation_p.E184K|SENP1_ENST00000547886.1_5'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTCCTTACCTCTTCTGCTGTA	0.403																																																	0													106	101	102					12																	48477376		1866	4093	5959	SO:0001583	missense	29843			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.550G>A	12.37:g.48477376C>T	ENSP00000004980:p.Glu184Lys		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E184K	ENST00000004980.5	37	c.550	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829037	0.90955	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.30981	1.52;1.51;1.52;1.51;1.52	3.96	3.96	0.45880	.	0.062472	0.64402	N	0.000011	T	0.42017	0.1184	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.76071	0.971;0.987	T	0.13818	-1.0495	10	0.25106	T	0.35	-12.0609	16.9143	0.86147	0.0:1.0:0.0:0.0	.	184;184	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	184	ENSP00000004980:E184K;ENSP00000394791:E184K;ENSP00000446681:E184K;ENSP00000450076:E184K;ENSP00000447328:E184K	ENSP00000004980:E184K	E	-	1	0	SENP1	46763643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.577000	0.60922	2.508000	0.84585	0.655000	0.94253	GAG	SENP1	-	NULL		0.403	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	C	NM_014554		48477376	-1	no_errors	ENST00000004980	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48477376	C	T	48477376	3	4	116	1	0	0	0	0	1	0	0	0	14076	922	32	1	1433	1	SENP1	12	48477376	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	7808906	48477376	85374519	151	17370										
ANP32D	23519	genome.wustl.edu	37	chr12	48866842	48866842	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaccaacctgaacaactactGagaaaagatgttcaagctcc	6	11	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:48866842G>A	ENST00000266594.1	+	1	395	c.395G>A	c.(394-396)tGa>tAa	p.*132*		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	0						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AACAACTACTGAGAAAAGATG	0.473																																																	0													78	77	77					12																	48866842		2203	4300	6503	SO:0001630	splice_region_variant	23519			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.393+1G>A	12.37:g.48866842G>A			Q6NTC4	Silent	SNP	NULL	p.*132	ENST00000266594.1	37	c.395	CCDS31788.1	12																																																																																			ANP32D	-	NULL		0.473	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32D	HGNC	protein_coding	OTTHUMT00000370058.1	G	NM_012404	Silent	48866842	1	no_errors	ENST00000266594	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48866842	G	A	48866842	5	1	116	1	0	0	0	0	0	0	1	0	708	1304	45	1	397	1	ANP32D	12	48866842	Splice_Site	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	389466	48866842	84985053	152	17371										
ACCN2	41	genome.wustl.edu	37	chr12	50474444	50474444	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctccctatcatccaaaagcaGggtgctcacttctgtcccat	6	15	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:50474444G>C	ENST00000447966.2	+	9	1526				ASIC1_ENST00000228468.4_Missense_Mutation_p.G457R|ASIC1_ENST00000552438.1_Intron	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TCCAAAAGCAGGGTGCTCACT	0.577																																																	0													72	59	64					12																	50474444		2203	4300	6503	SO:0001627	intron_variant	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1297+72G>C	12.37:g.50474444G>C			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.G457R	ENST00000447966.2	37	c.1369	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279821	0.80692	.	.	ENSG00000110881	ENST00000228468	T	0.59083	0.29	5.18	3.33	0.38152	.	6.244980	0.00447	N	0.000085	T	0.45577	0.1349	.	.	.	0.09310	N	1	B	0.22276	0.067	B	0.20577	0.03	T	0.27971	-1.0058	9	0.34782	T	0.22	-3.2441	5.5989	0.17343	0.1693:0.0:0.6748:0.1559	.	457	P78348-1	.	R	457	ENSP00000228468:G457R	ENSP00000228468:G457R	G	+	1	0	ACCN2	48760711	0.000000	0.05858	0.001000	0.08648	0.922000	0.55478	0.455000	0.21843	0.673000	0.31224	-0.300000	0.09419	GGG	ASIC1	-	pfam_Na+channel_ASC		0.577	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	G	NM_020039		50474444	1	no_errors	ENST00000228468	ensembl	human	known	70_37	missense	SNP	0.001	C	C	50474444	G	C	50474444	1	2	116	0	1	0	0	0	0	0	0	0	129	1000	35	4		4	ACCN2	12	50474444	Intron	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1607602	50474444	83377451	153	17372										
METTL7A	25840	genome.wustl.edu	37	chr12	51319179	51319179	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agaaccgacacctgcagtttGagcgctttgtggtagctgcc	12	11	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:51319179G>C	ENST00000548553.1	+	2	1339	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	METTL7A_ENST00000332160.4_Missense_Mutation_p.E120Q			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	120						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CCTGCAGTTTGAGCGCTTTGT	0.547																																																	0													91	82	85					12																	51319179		2203	4300	6503	SO:0001583	missense	25840				CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.358G>C	12.37:g.51319179G>C	ENSP00000448785:p.Glu120Gln		Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related	p.E120Q	ENST00000548553.1	37	c.358	CCDS8804.1	12	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156452	0.57259	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160	T;T;T	0.20463	2.07;3.81;2.07	5.02	5.02	0.67125	Methyltransferase type 11 (1);	0.152035	0.64402	D	0.000018	T	0.24851	0.0603	L	0.46885	1.475	0.41479	D	0.988152	P	0.34815	0.47	B	0.42692	0.395	T	0.01889	-1.1253	10	0.20519	T	0.43	0.0937	13.6065	0.62050	0.0:0.1553:0.8447:0.0	.	120	Q9H8H3	MET7A_HUMAN	Q	120	ENSP00000448785:E120Q;ENSP00000450239:E120Q;ENSP00000331787:E120Q	ENSP00000331787:E120Q	E	+	1	0	METTL7A	49605446	1.000000	0.71417	0.984000	0.44739	0.522000	0.34438	3.927000	0.56499	2.785000	0.95823	0.591000	0.81541	GAG	METTL7A	-	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_SAM-MeTfrase_NodS-related		0.547	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7A	HGNC	protein_coding	OTTHUMT00000404294.2	G	NM_014033		51319179	1	no_errors	ENST00000332160	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51319179	G	C	51319179	3	2	116	1	0	0	0	0	1	0	0	0	9528	1291	45	1	360	1	METTL7A	12	51319179	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	844735	51319179	82532716	154	17373										
DGKA	1606	genome.wustl.edu	37	chr12	56333286	56333286	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgtgcgagtcaagcattggtCttggcaaacagggactgagc	14	8	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:56333286C>G	ENST00000331886.5	+	9	1136	c.682C>G	c.(682-684)Ctt>Gtt	p.L228V	DGKA_ENST00000551156.1_Missense_Mutation_p.L228V|DGKA_ENST00000394147.1_Missense_Mutation_p.L228V|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	228					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AAGCATTGGTCTTGGCAAACA	0.547																																																	0													154	138	144					12																	56333286		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.682C>G	12.37:g.56333286C>G	ENSP00000328405:p.Leu228Val		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L228V	ENST00000331886.5	37	c.682	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.664863	0.00765	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.13	2.12	0.27331	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.073656	0.56097	D	0.000037	T	0.69441	0.3111	N	0.20845	0.615	0.38550	D	0.949426	B;B;B;B	0.33841	0.251;0.004;0.428;0.036	B;B;B;B	0.37387	0.083;0.009;0.248;0.1	T	0.62666	-0.6806	10	0.06625	T	0.88	.	6.5665	0.22515	0.1337:0.6597:0.1301:0.0765	.	228;147;228;228	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	V	228;147;228;228	ENSP00000328405:L228V;ENSP00000451743:L147V;ENSP00000377703:L228V;ENSP00000450359:L228V	ENSP00000328405:L228V	L	+	1	0	DGKA	54619553	0.980000	0.34600	0.996000	0.52242	0.120000	0.20174	1.303000	0.33470	0.857000	0.35407	-0.274000	0.10170	CTT	DGKA	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.547	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	C			56333286	1	no_errors	ENST00000331886	ensembl	human	known	70_37	missense	SNP	0.993	G	G	56333286	C	G	56333286	3	3	116	1	0	0	0	0	1	0	0	0	4475	913	32	1	712	1	DGKA	12	56333286	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	5014107	56333286	77518609	155	17374										
SRGAP1	57522	genome.wustl.edu	37	chr12	64383826	64383826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgcggttcatgcagataagtGaggattctaccaggatgttt	12	6	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:64383826G>A	ENST00000355086.3	+	3	924	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E134K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E94K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	134	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCAGATAAGTGAGGATTCTAC	0.413																																																	0													213	179	190					12																	64383826		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.400G>A	12.37:g.64383826G>A	ENSP00000347198:p.Glu134Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E134K	ENST00000355086.3	37	c.400	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.468318	0.96274	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.40476	1.03;1.03;2.6	5.42	5.42	0.78866	.	0.000000	0.35067	U	0.003461	T	0.69878	0.3160	M	0.87180	2.865	0.80722	D	1	P;P;D	0.64830	0.952;0.939;0.994	P;P;D	0.66847	0.764;0.814;0.947	T	0.73471	-0.3972	9	.	.	.	.	19.5862	0.95490	0.0:0.0:1.0:0.0	.	134;94;134	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	134;134;94	ENSP00000347198:E134K;ENSP00000350480:E134K;ENSP00000437948:E94K	.	E	+	1	0	SRGAP1	62670093	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	9.694000	0.98686	2.711000	0.92665	0.561000	0.74099	GAG	SRGAP1	-	NULL		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64383826	1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64383826	G	A	64383826	3	1	116	1	0	0	0	0	1	0	0	0	15175	1291	45	1	410	1	SRGAP1	12	64383826	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	8050540	64383826	69468069	156	17375										
RFX4	5992	genome.wustl.edu	37	chr12	107126766	107126766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	accccttcaccagtgccatcGttttctccagcaaaatctgc	5	16	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:107126766G>A	ENST00000392842.1	+	15	1950	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.S418S|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Silent_p.S521S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	512					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAGTGCCATCGTTTTCTCCAG	0.502																																																	0													156	142	147					12																	107126766		2203	4300	6503	SO:0001819	synonymous_variant	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1536G>A	12.37:g.107126766G>A			A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	pfam_DNA-bd_RFX	p.S521	ENST00000392842.1	37	c.1563	CCDS9106.1	12																																																																																			RFX4	-	NULL		0.502	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	G	NM_032491		107126766	1	no_errors	ENST00000357881	ensembl	human	known	70_37	silent	SNP	0.036	A	A	107126766	G	A	107126766	2	1	116	1	0	0	0	0	0	0	0	1	13295	1132	40	2		2	RFX4	12	107126766	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	42742940	107126766	26725129	157	17376										
SSH1	54434	genome.wustl.edu	37	chr12	109185927	109185927	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agatgggagctgggggcccaGaggagacaatagaaaaaaat	15	5	0	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:109185927G>A	ENST00000326495.5	-	14	1987				SSH1_ENST00000326470.5_Silent_p.L687L|SSH1_ENST00000360239.3_Intron|SSH1_ENST00000551165.1_Silent_p.L676L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1						actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGGCCCAGAGGAGACAAT	0.522																																																	0													16	18	17					12																	109185927		692	1591	2283	SO:0001627	intron_variant	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1893+134C>T	12.37:g.109185927G>A			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L687	ENST00000326495.5	37	c.2061	CCDS9121.1	12																																																																																			SSH1	-	NULL		0.522	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	G	NM_018984		109185927	-1	no_errors	ENST00000326470	ensembl	human	known	70_37	silent	SNP	0.000	A	A	109185927	G	A	109185927	1	1	116	0	1	0	0	0	0	0	0	0	15214	929	33	1		1	SSH1	12	109185927	Intron	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	2059161	109185927	24665968	158	17377										
KDM2B	84678	genome.wustl.edu	37	chr12	121868153	121868153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctggacactcacagacatctCggctatgaactgctcacagc	8	14	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:121868153C>T	ENST00000377071.4	-	23	4021	c.3949G>A	c.(3949-3951)Gag>Aag	p.E1317K	KDM2B_ENST00000536437.1_3'UTR|RNF34_ENST00000392464.2_Silent_p.L460L|KDM2B_ENST00000542973.1_Missense_Mutation_p.E685K|KDM2B_ENST00000377069.4_Missense_Mutation_p.E1248K	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1317					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAGACATCTCGGCTATGAAC	0.478																																																	0													144	138	140					12																	121868153		1950	4151	6101	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3949G>A	12.37:g.121868153C>T	ENSP00000366271:p.Glu1317Lys		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E1317K	ENST00000377071.4	37	c.3949	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149306	0.78001	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043	T;T;T	0.23348	2.21;2.56;1.91	5.61	2.8	0.32819	.	0.000000	0.53938	D	0.000057	T	0.41558	0.1164	M	0.62723	1.935	0.80722	D	1	B;B;D;B	0.89917	0.112;0.036;1.0;0.112	B;B;D;B	0.75484	0.038;0.008;0.986;0.038	T	0.10847	-1.0612	10	0.24483	T	0.36	-11.3955	9.0499	0.36369	0.0:0.7441:0.1221:0.1337	.	757;1317;1248;760	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	K	1307;685;1248;1317;760	ENSP00000437821:E685K;ENSP00000366269:E1248K;ENSP00000366271:E1317K	ENSP00000366269:E1248K	E	-	1	0	KDM2B	120352536	1.000000	0.71417	0.925000	0.36789	0.943000	0.58893	7.770000	0.85390	0.320000	0.23234	-0.878000	0.02970	GAG	KDM2B	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.478	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	C	NM_032590		121868153	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	missense	SNP	0.993	T	T	121868153	C	T	121868153	3	4	116	1	0	0	0	0	1	0	0	0	8145	893	31	1	117	1	KDM2B	12	121868153	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	12682226	121868153	11983742	159	17378										
GPR109A	338442	genome.wustl.edu	37	chr12	123187570	123187570	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttccagtcccaacgcctcacAtagttgtccatcaggaaggg	9	13	2	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:123187570A>T	ENST00000328880.5	-	1	320	c.261T>A	c.(259-261)taT>taA	p.Y87*	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	87					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AACGCCTCACATAGTTGTCCA	0.542																																																	0													87	76	80					12																	123187570		2203	4300	6503	SO:0001587	stop_gained	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.261T>A	12.37:g.123187570A>T	ENSP00000375066:p.Tyr87*		A0PJL5|A7LGG3	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.Y87*	ENST00000328880.5	37	c.261	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	A	8.189	0.795579	0.16327	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	.	.	.	5.65	-11.3	0.00108	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.813	15.8142	0.78586	0.6525:0.0:0.2811:0.0665	.	.	.	.	X	87	.	ENSP00000375066:Y87X	Y	-	3	2	HCAR2	121753523	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.837000	0.04377	-3.191000	0.00219	-1.811000	0.00612	TAT	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	A	NM_177551		123187570	-1	no_errors	ENST00000328880	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	123187570	A	T	123187570	4	4	116	1	0	0	0	0	0	1	0	0	6644	224	8	5	834	5	GPR109A	12	123187570	Nonsense_Mutation	SNP	A	TCGA-EK-A3GJ-01A-21D-A20U-09	1319417	123187570	10664325	160	17379										
DNAH10	196385	genome.wustl.edu	37	chr12	124265759	124265759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctggggaggcagtagaatatCacagtattcaattaatacgg	11	6	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:124265759C>G	ENST00000409039.3	+	6	596	c.571C>G	c.(571-573)Cac>Gac	p.H191D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	191	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTAGAATATCACAGTATTCA	0.428																																																	0													165	178	174					12																	124265759		2203	4300	6503	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.571C>G	12.37:g.124265759C>G	ENSP00000386770:p.His191Asp		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.H191D	ENST00000409039.3	37	c.571	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	c	0.313	-0.966390	0.02232	.	.	ENSG00000197653	ENST00000409039	T	0.20738	2.05	5.3	4.39	0.52855	.	0.350085	0.24018	N	0.042319	T	0.10809	0.0264	N	0.14661	0.345	0.25806	N	0.984459	B	0.02656	0.0	B	0.01281	0.0	T	0.30937	-0.9961	10	0.11794	T	0.64	.	9.3135	0.37919	0.2898:0.5697:0.1405:0.0	.	191	Q8IVF4	DYH10_HUMAN	D	191	ENSP00000386770:H191D	ENSP00000386770:H191D	H	+	1	0	DNAH10	122831712	0.959000	0.32827	0.998000	0.56505	0.117000	0.20001	1.326000	0.33735	1.199000	0.43173	0.436000	0.28706	CAC	DNAH10	-	NULL		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124265759	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	0.996	G	G	124265759	C	G	124265759	3	3	116	1	0	0	0	0	1	0	0	0	4608	826	29	1	593	1	DNAH10	12	124265759	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1078189	124265759	9586136	161	17380										
UBC	7316	genome.wustl.edu	37	chr12	125396957	125396957	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cgaagatctgcatcccacctCtaagacggagcaccaggtgc	10	14	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr12:125396957C>G	ENST00000536769.1	-	1	2937	c.1361G>C	c.(1360-1362)aGa>aCa	p.R454T	UBC_ENST00000339647.5_Missense_Mutation_p.R454T|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.R378T			P0CG48	UBC_HUMAN	ubiquitin C	454	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CATCCCACCTCTAAGACGGAG	0.517																																																	0													6	7	7					12																	125396957		1914	3727	5641	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1361G>C	12.37:g.125396957C>G	ENSP00000441543:p.Arg454Thr		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.R454T	ENST00000536769.1	37	c.1361	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767786	0.31320	.	.	ENSG00000150991	ENST00000536769;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	3.59	3.59	0.41128	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.52532	U	0.000065	D	0.84419	0.5468	M	0.91612	3.225	0.30529	N	0.767651	D	0.61080	0.989	P	0.59487	0.858	T	0.82973	-0.0191	10	0.87932	D	0	.	6.7917	0.23703	0.0:0.8724:0.0:0.1276	.	454	P0CG48	UBC_HUMAN	T	454;378;454;378	ENSP00000441543:R454T;ENSP00000344818:R454T;ENSP00000438394:R378T	ENSP00000344818:R454T	R	-	2	0	UBC	123962910	0.004000	0.15560	0.767000	0.31495	0.908000	0.53690	1.735000	0.38176	1.844000	0.53588	0.511000	0.50034	AGA	UBC	-	pfam_Ubiquitin,pfscan_Ubiquitin_supergroup		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	C	NM_021009		125396957	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	missense	SNP	0.238	G	G	125396957	C	G	125396957	3	3	116	1	0	0	0	0	1	0	0	0	16873	913	32	1	700	1	UBC	12	125396957	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1131198	125396957	8454938	162	17381										
LMO7	4008	genome.wustl.edu	37	chr13	76379796	76379796	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caaacccagggaatgcttttGatcagtttcttcccaaatgt	7	10	2	1	rs149414620		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr13:76379796G>C	ENST00000321797.8	+	7	1118	c.397G>C	c.(397-399)Gat>Cat	p.D133H	LMO7_ENST00000357063.3_Missense_Mutation_p.D418H|LMO7_ENST00000377534.3_Missense_Mutation_p.D418H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.D133H|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	418	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAATGCTTTTGATCAGTTTCT	0.403																																																	0													312	286	294					13																	76379796		1568	3582	5150	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.397G>C	13.37:g.76379796G>C	ENSP00000317802:p.Asp133His		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.D418H	ENST00000321797.8	37	c.1252		13	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226744	0.39399	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.93	5.08	0.68730	.	0.113535	0.64402	D	0.000017	T	0.32224	0.0822	M	0.64997	1.995	0.45747	D	0.998649	P	0.38745	0.645	B	0.29440	0.102	T	0.25257	-1.0137	10	0.87932	D	0	-18.3322	11.2819	0.49199	0.0684:0.1277:0.8039:0.0	.	133	E9PLH4	.	H	418;418;133;133;133	ENSP00000349571:D418H;ENSP00000366757:D418H;ENSP00000317802:D133H;ENSP00000433352:D133H;ENSP00000432269:D133H	ENSP00000317802:D133H	D	+	1	0	LMO7	75277797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.995000	0.57001	1.506000	0.48736	0.563000	0.77884	GAT	LMO7	-	NULL		0.403	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	G	NM_005358		76379796	1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76379796	G	C	76379796	3	2	116	1	0	0	0	0	1	0	0	0	8876	1290	45	1	1290	1	LMO7	13	76379796	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		76379796	38790082	163	17382										
SUPT16H	11198	genome.wustl.edu	37	chr14	21852049	21852049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgctgtacagtctcttcactCgccgataataagcgtctttg	8	11	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:21852049C>T	ENST00000216297.2	-	1	376	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	RP11-524O1.4_ENST00000565098.1_RNA|SUPT16H_ENST00000555943.1_Missense_Mutation_p.R13Q	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	13					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTCTTCACTCGCCGATAATA	0.572																																																	0													74	78	76					14																	21852049		2203	4300	6503	SO:0001583	missense	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.38G>A	14.37:g.21852049C>T	ENSP00000216297:p.Arg13Gln		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.R13Q	ENST00000216297.2	37	c.38	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165679	0.57476	.	.	ENSG00000092201	ENST00000216297;ENST00000538230;ENST00000555943	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	M	0.91818	3.245	0.23661	N	0.997176	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.986;0.976	T	0.72795	-0.4185	9	0.87932	D	0	-1.4557	15.1039	0.72306	0.0:1.0:0.0:0.0	.	13;13;13	G3V2X0;G3V401;Q9Y5B9	.;.;SP16H_HUMAN	Q	13	.	ENSP00000216297:R13Q	R	-	2	0	SUPT16H	20921889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.464000	0.60134	2.562000	0.86427	0.563000	0.77884	CGA	SUPT16H	-	NULL		0.572	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	C			21852049	-1	no_errors	ENST00000216297	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21852049	C	T	21852049	3	4	116	1	0	0	0	0	1	0	0	0	15426	884	31	1	3209	1	SUPT16H	14	21852049	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		21852049	85497491	164	17383										
NYNRIN	57523	genome.wustl.edu	37	chr14	24877477	24877477	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gggatgctgcgggcaaggaaGacatcatcgagtggctcagc	16	9	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:24877477G>C	ENST00000382554.3	+	3	919	c.601G>C	c.(601-603)Gac>Cac	p.D201H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	201					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCAAGGAAGACATCATCGA	0.637																																																	0													28	35	33					14																	24877477		2094	4222	6316	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.601G>C	14.37:g.24877477G>C	ENSP00000371994:p.Asp201His		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.D201H	ENST00000382554.3	37	c.601	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451190	0.63290	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	5.06	5.06	0.68205	.	0.770143	0.11771	N	0.531156	T	0.21550	0.0519	L	0.27053	0.805	0.29501	N	0.854946	D	0.89917	1.0	D	0.68765	0.96	T	0.05801	-1.0863	10	0.72032	D	0.01	.	13.798	0.63182	0.0:0.0:1.0:0.0	.	201	Q9P2P1	NYNRI_HUMAN	H	201	ENSP00000371994:D201H	ENSP00000371994:D201H	D	+	1	0	NYNRIN	23947317	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.848000	0.48278	2.619000	0.88677	0.655000	0.94253	GAC	NYNRIN	-	NULL		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	G			24877477	1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.990	C	C	24877477	G	C	24877477	3	2	116	1	0	0	0	0	1	0	0	0	10820	942	33	1	607	1	NYNRIN	14	24877477	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3025428	24877477	82472063	165	17384										
NPAS3	64067	genome.wustl.edu	37	chr14	34270072	34270072	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aacgcgcacgctgttaacttCgtggacgttaacagccccgg	11	13	0	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:34270072C>T	ENST00000356141.4	+	12	2559	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	NPAS3_ENST00000357798.5_Silent_p.F840F|NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000346562.2_Silent_p.F821F|NPAS3_ENST00000548645.1_Silent_p.F823F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	853					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGTTAACTTCGTGGACGTTA	0.647																																																	0													42	30	34					14																	34270072		2203	4298	6501	SO:0001819	synonymous_variant	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2559C>T	14.37:g.34270072C>T			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.F853	ENST00000356141.4	37	c.2559	CCDS53891.1	14																																																																																			NPAS3	-	NULL		0.647	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	C			34270072	1	no_errors	ENST00000356141	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34270072	C	T	34270072	2	4	116	1	0	0	0	0	0	0	0	1	10588	883	31	1		1	NPAS3	14	34270072	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	9392595	34270072	73079468	166	17385										
FUT8	2530	genome.wustl.edu	37	chr14	66096237	66096237	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atgacggatctatactacctCagtcagacagatggagcagg	11	9	3	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:66096237C>G	ENST00000360689.5	+	6	2237	c.510C>G	c.(508-510)ctC>ctG	p.L170L	FUT8_ENST00000394585.1_Silent_p.L170L|FUT8_ENST00000557164.1_Silent_p.L7L|FUT8_ENST00000394586.2_Silent_p.L170L|FUT8_ENST00000358307.2_Silent_p.L41L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	170					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TATACTACCTCAGTCAGACAG	0.423																																																	0													136	130	132					14																	66096237		2203	4300	6503	SO:0001819	synonymous_variant	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.510C>G	14.37:g.66096237C>G			B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.L170	ENST00000360689.5	37	c.510	CCDS9775.1	14																																																																																			FUT8	-	pirsf_Alpha1_6FUT_euk		0.423	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	C	NM_004480		66096237	1	no_errors	ENST00000360689	ensembl	human	known	70_37	silent	SNP	1.000	G	G	66096237	C	G	66096237	2	3	116	1	0	0	0	0	0	0	0	1	6128	813	29	1		1	FUT8	14	66096237	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	31826165	66096237	41253303	167	17386										
C14orf145	145508	genome.wustl.edu	37	chr14	80971268	80971268	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tacttacagttcacgtatgaAaatcttggactagacaggaa	8	7	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:80971268A>C	ENST00000555265.1	-	24	3543	c.3168T>G	c.(3166-3168)ttT>ttG	p.F1056L	CEP128_ENST00000281129.3_Missense_Mutation_p.F1056L|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1056						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCACGTATGAAAATCTTGGAC	0.398																																																	0													59	58	58					14																	80971268		2203	4300	6503	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.3168T>G	14.37:g.80971268A>C	ENSP00000451162:p.Phe1056Leu		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.F1056L	ENST00000555265.1	37	c.3168	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.62|16.62	3.174793|3.174793	0.57692|0.57692	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265|ENST00000556061	T;T|.	0.22539|.	1.95;1.95|.	5.32|5.32	4.15|4.15	0.48705|0.48705	.|.	0.641169|0.641169	0.14346|0.14346	N|N	0.325421|0.325421	T|T	0.37517|0.37517	0.1006|0.1006	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.20052|.	0.041|.	B|.	0.20184|.	0.028|.	T|T	0.12016|0.12016	-1.0564|-1.0564	10|6	0.02654|.	T|.	1|.	.|.	7.9529|7.9529	0.30025|0.30025	0.9072:0.0:0.0928:0.0|0.9072:0.0:0.0928:0.0	.|.	1056|.	Q6ZU80|.	CE128_HUMAN|.	L|V	1056|122	ENSP00000281129:F1056L;ENSP00000451162:F1056L|.	ENSP00000281129:F1056L|.	F|F	-|-	3|1	2|0	CEP128|CEP128	80041021|80041021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.608000|0.608000	0.24223|0.24223	2.225000|2.225000	0.72522|0.72522	0.528000|0.528000	0.53228|0.53228	TTT|TTC	CEP128	-	NULL		0.398	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	A	NM_152446		80971268	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80971268	A	C	80971268	3	2	116	1	0	0	0	0	1	0	0	0	1753	11	1	5	124	5	C14orf145	14	80971268	Missense_Mutation	SNP	A	TCGA-EK-A3GJ-01A-21D-A20U-09	14875031	80971268	26378272	168	17387										
BEGAIN	57596	genome.wustl.edu	37	chr14	101005410	101005410	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agggctgtgtcactgcagtaGatgtctcccttgtagggggg	16	8	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:101005410G>A	ENST00000355173.2	-	7	749	c.678C>T	c.(676-678)atC>atT	p.I226I	BEGAIN_ENST00000443071.2_Silent_p.I226I|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Silent_p.I162I	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	226						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CACTGCAGTAGATGTCTCCCT	0.721																																					NSCLC(159;1889 2010 9965 27479 40101)												0													16	20	19					14																	101005410		2202	4299	6501	SO:0001819	synonymous_variant	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.678C>T	14.37:g.101005410G>A			Q9NPU3|Q9P282	Silent	SNP	superfamily_Prefoldin	p.I226	ENST00000355173.2	37	c.678	CCDS9962.1	14																																																																																			BEGAIN	-	NULL		0.721	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	G	NM_020836		101005410	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101005410	G	A	101005410	2	1	116	1	0	0	0	0	0	0	0	1	1398	932	33	1		1	BEGAIN	14	101005410	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	20034142	101005410	6344130	169	17388										
AHNAK2	113146	genome.wustl.edu	37	chr14	105421849	105421849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agttaaaaagcttggcggctGaggagtccttcagcacttgc	12	9	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr14:105421849G>A	ENST00000333244.5	-	5	556	c.437C>T	c.(436-438)tCa>tTa	p.S146L	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	146	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGGCGGCTGAGGAGTCCTT	0.587																																																	0													87	95	93					14																	105421849		2048	4208	6256	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.437C>T	14.37:g.105421849G>A	ENSP00000353114:p.Ser146Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S146L	ENST00000333244.5	37	c.437	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598773	0.66332	.	.	ENSG00000185567	ENST00000333244	T	0.37235	1.21	4.72	4.72	0.59763	PDZ/DHR/GLGF (3);	0.178326	0.37393	U	0.002119	T	0.52533	0.1740	L	0.46157	1.445	0.34254	D	0.679155	D	0.76494	0.999	D	0.68943	0.961	T	0.65220	-0.6221	10	0.72032	D	0.01	.	16.0752	0.80965	0.0:0.0:1.0:0.0	.	146	Q8IVF2	AHNK2_HUMAN	L	146	ENSP00000353114:S146L	ENSP00000353114:S146L	S	-	2	0	AHNAK2	104492894	1.000000	0.71417	0.777000	0.31699	0.521000	0.34408	7.468000	0.80943	2.460000	0.83146	0.650000	0.86243	TCA	AHNAK2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105421849	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.991	A	A	105421849	G	A	105421849	3	1	116	1	0	0	0	0	1	0	0	0	415	1294	45	1	16962	1	AHNAK2	14	105421849	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	4416439	105421849	1927691	170	17389										
INO80	54617	genome.wustl.edu	37	chr15	41371977	41371977	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cggtgctccttctctactttCtcatatttcttccagtacag	5	13	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:41371977C>G	ENST00000361937.3	-	9	1477	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	INO80_ENST00000401393.3_Missense_Mutation_p.E351D			Q9ULG1	INO80_HUMAN	INO80 complex subunit	351	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTCTACTTTCTCATATTTCT	0.522																																																	0													198	206	203					15																	41371977		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1053G>C	15.37:g.41371977C>G	ENSP00000355205:p.Glu351Asp		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E351D	ENST00000361937.3	37	c.1053	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	7.305	0.613913	0.14066	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92446	-3.04;-3.04	4.91	1.39	0.22231	DNA binding domain, INO80 (1);	0.056629	0.64402	D	0.000001	D	0.84306	0.5443	L	0.35414	1.06	0.43403	D	0.99553	B	0.11235	0.004	B	0.14023	0.01	T	0.73902	-0.3836	10	0.29301	T	0.29	.	7.2298	0.26036	0.0:0.5561:0.0:0.4439	.	351	Q9ULG1	INO80_HUMAN	D	351	ENSP00000355205:E351D;ENSP00000384686:E351D	ENSP00000355205:E351D	E	-	3	2	INO80	39159269	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	1.121000	0.31283	0.499000	0.27970	-0.444000	0.05651	GAG	INO80	-	NULL		0.522	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41371977	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41371977	C	G	41371977	3	3	116	1	0	0	0	0	1	0	0	0	7766	912	32	1	3729	1	INO80	15	41371977	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		41371977	61159415	171	17390										
CDAN1	146059	genome.wustl.edu	37	chr15	43028186	43028186	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgggaactggggacacagctGattgggggtgaggtgaagca	19	5	0	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:43028186G>A	ENST00000356231.3	-	3	683	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	220					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGACACAGCTGATTGGGGGTG	0.612																																																	0													105	120	115					15																	43028186		2203	4299	6502	SO:0001819	synonymous_variant	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.660C>T	15.37:g.43028186G>A			Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	NULL	p.I220	ENST00000356231.3	37	c.660	CCDS32209.1	15																																																																																			CDAN1	-	NULL		0.612	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	G	XM_085300		43028186	-1	no_errors	ENST00000356231	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43028186	G	A	43028186	2	1	116	1	0	0	0	0	0	0	0	1	3059	1280	45	1		1	CDAN1	15	43028186	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1656209	43028186	59503206	172	17391										
SPG11	80208	genome.wustl.edu	37	chr15	44888480	44888480	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccattttggaggtgggcactGagggcaagttctcaaaagcc	13	9	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:44888480G>A	ENST00000261866.7	-	25	4251	c.4235C>T	c.(4234-4236)tCa>tTa	p.S1412L	SPG11_ENST00000427534.2_Missense_Mutation_p.S1412L|SPG11_ENST00000558319.1_Missense_Mutation_p.S1412L|SPG11_ENST00000535302.2_Missense_Mutation_p.S1412L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1412					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGTGGGCACTGAGGGCAAGTT	0.443																																																	0													104	103	103					15																	44888480		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4235C>T	15.37:g.44888480G>A	ENSP00000261866:p.Ser1412Leu		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.S1412L	ENST00000261866.7	37	c.4235	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351328	0.01256	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79554	-1.28;-1.28;-1.28	5.45	3.57	0.40892	.	0.779565	0.12191	N	0.491234	T	0.80053	0.4553	M	0.69823	2.125	0.09310	N	0.999996	B;B;B	0.15473	0.002;0.013;0.007	B;B;B	0.16289	0.004;0.009;0.015	T	0.68503	-0.5391	10	0.59425	D	0.04	.	12.5476	0.56208	0.1514:0.0:0.8486:0.0	.	1412;1412;1412	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	L	1412	ENSP00000261866:S1412L;ENSP00000445278:S1412L;ENSP00000396110:S1412L	ENSP00000261866:S1412L	S	-	2	0	SPG11	42675772	0.001000	0.12720	0.001000	0.08648	0.151000	0.21798	0.878000	0.28126	0.282000	0.22254	-0.797000	0.03246	TCA	SPG11	-	NULL		0.443	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44888480	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	0.002	A	A	44888480	G	A	44888480	3	1	116	1	0	0	0	0	1	0	0	0	15071	1294	45	1	3160	1	SPG11	15	44888480	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1860294	44888480	57642912	173	17392										
GATM	2628	genome.wustl.edu	37	chr15	45656204	45656204	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agccatttggatgacatccaGagtggatgatctaaaaacag	10	7	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:45656204G>T	ENST00000396659.3	-	8	1392	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	GATM_ENST00000558336.1_Silent_p.L351L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	351					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	ATGACATCCAGAGTGGATGAT	0.353																																																	0													143	126	132					15																	45656204		2198	4298	6496	SO:0001819	synonymous_variant	2628			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1053C>A	15.37:g.45656204G>T			B4DH99|B4DPI3|Q53EQ4	Silent	SNP	NULL	p.L351	ENST00000396659.3	37	c.1053	CCDS10122.1	15																																																																																			GATM	-	NULL		0.353	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	HGNC	protein_coding	OTTHUMT00000254220.2	G	NM_001482		45656204	-1	no_errors	ENST00000396659	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45656204	G	T	45656204	2	4	116	1	0	0	0	0	0	0	0	1	6282	929	33	3		3	GATM	15	45656204	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	767724	45656204	56875188	174	17393										
USP8	9101	genome.wustl.edu	37	chr15	50786321	50786321	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaagaatttggtataatcatGaaagccctgtggacaggaca	11	6	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:50786321G>T	ENST00000396444.3	+	16	2840	c.2502G>T	c.(2500-2502)atG>atT	p.M834I	USP8_ENST00000425032.3_Missense_Mutation_p.M728I|USP8_ENST00000307179.4_Missense_Mutation_p.M834I|USP8_ENST00000433963.1_Missense_Mutation_p.M834I|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	834	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTATAATCATGAAAGCCCTGT	0.368																																																	0													110	106	108					15																	50786321		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2502G>T	15.37:g.50786321G>T	ENSP00000379721:p.Met834Ile		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.M834I	ENST00000396444.3	37	c.2502	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659880	0.47572	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	N	0.04260	-0.245	0.80722	D	1	B;B	0.24618	0.107;0.107	B;B	0.29942	0.109;0.109	T	0.07751	-1.0756	10	0.02654	T	1	-18.8338	19.0607	0.93091	0.0:0.0:1.0:0.0	.	728;834	B4DKA8;P40818	.;UBP8_HUMAN	I	834;834;834;728;59;54	ENSP00000379721:M834I;ENSP00000405537:M834I;ENSP00000302239:M834I;ENSP00000412682:M728I	ENSP00000302239:M834I	M	+	3	0	USP8	48573613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.577000	0.86979	0.650000	0.86243	ATG	USP8	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.368	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	G	NM_005154		50786321	1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50786321	G	T	50786321	3	4	116	1	0	0	0	0	1	0	0	0	17120	1290	45	3	2560	3	USP8	15	50786321	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	5130117	50786321	51745071	175	17394										
SLC24A1	9187	genome.wustl.edu	37	chr15	65942798	65942798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctggtgaaggtgaaactgaaGagaaaagtggaggtgaaact	15	3	0	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:65942798G>A	ENST00000261892.6	+	7	2598	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.E753K|SLC24A1_ENST00000544319.2_Missense_Mutation_p.E657K|SLC24A1_ENST00000537259.1_Missense_Mutation_p.E753K|SLC24A1_ENST00000399033.4_Missense_Mutation_p.E771K|SLC24A1_ENST00000546330.1_Missense_Mutation_p.E753K	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	771					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						tgaaactgaagagaaaagtgg	0.463																																																	0													74	80	78					15																	65942798		1490	2942	4432	SO:0001583	missense	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2311G>A	15.37:g.65942798G>A	ENSP00000261892:p.Glu771Lys		O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.E771K	ENST00000261892.6	37	c.2311	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	g	13.25	2.182429	0.38511	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.65732	0.04;-0.13;-0.17;2.0;-0.11;-0.17	3.32	2.38	0.29361	.	1.905410	0.02186	N	0.060889	T	0.55369	0.1916	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B	0.32829	0.267;0.386;0.267;0.267;0.386;0.267	B;B;B;B;B;B	0.25291	0.026;0.058;0.026;0.026;0.058;0.059	T	0.35525	-0.9785	10	0.18276	T	0.48	.	9.9936	0.41885	0.0:0.2092:0.7908:0.0	.	98;753;771;771;753;753	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	K	753;771;753;657;771;753	ENSP00000439693:E753K;ENSP00000261892:E771K;ENSP00000341837:E753K;ENSP00000445163:E657K;ENSP00000381991:E771K;ENSP00000439190:E753K	ENSP00000261892:E771K	E	+	1	0	SLC24A1	63729852	0.499000	0.26083	0.012000	0.15200	0.255000	0.26057	0.982000	0.29539	0.577000	0.29470	0.289000	0.19496	GAG	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger		0.463	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	G	NM_004727		65942798	1	no_errors	ENST00000261892	ensembl	human	known	70_37	missense	SNP	0.044	A	A	65942798	G	A	65942798	3	1	116	1	0	0	0	0	1	0	0	0	14495	943	33	1	439	1	SLC24A1	15	65942798	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	15156477	65942798	36588594	176	17395										
AAGAB	79719	genome.wustl.edu	37	chr15	67524189	67524189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttggaccacacattggcattCagggcttggacaattcgctt	10	10	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:67524189C>T	ENST00000261880.5	-	5	602	c.498G>A	c.(496-498)ctG>ctA	p.L166L	AAGAB_ENST00000561452.1_Silent_p.L57L|AAGAB_ENST00000542650.1_Silent_p.L57L	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	166					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CATTGGCATTCAGGGCTTGGA	0.368																																																	0													256	248	250					15																	67524189		1928	4145	6073	SO:0001819	synonymous_variant	79719			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.498G>A	15.37:g.67524189C>T			B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Silent	SNP	pfam_Alpha/Gamma-adaptin-bd_p34	p.L166	ENST00000261880.5	37	c.498	CCDS42050.1	15																																																																																			AAGAB	-	pfam_Alpha/Gamma-adaptin-bd_p34		0.368	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAGAB	HGNC	protein_coding	OTTHUMT00000417472.1	C	NM_024666		67524189	-1	no_errors	ENST00000261880	ensembl	human	known	70_37	silent	SNP	0.995	T	T	67524189	C	T	67524189	2	4	116	1	0	0	0	0	0	0	0	1	15	813	29	1		1	AAGAB	15	67524189	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1581391	67524189	35007203	177	17396										
KIAA1199	57214	genome.wustl.edu	37	chr15	81234256	81234256	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gctttctgctccatgaaaggCtgtgagaggataaagattaa	11	6	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:81234256C>G	ENST00000394685.3	+	26	3893	c.3474C>G	c.(3472-3474)ggC>ggG	p.G1158G	KIAA1199_ENST00000356249.5_Silent_p.G1158G|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.G1158G			Q8WUJ3	CEMIP_HUMAN		1158					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATGAAAGGCTGTGAGAGGA	0.502																																																	0													75	76	76					15																	81234256		2203	4300	6503	SO:0001819	synonymous_variant	57214																														ENST00000394685.3:c.3474C>G	15.37:g.81234256C>G			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.G1158	ENST00000394685.3	37	c.3474	CCDS10315.1	15																																																																																			KIAA1199	-	NULL		0.502	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	C			81234256	1	no_errors	ENST00000220244	ensembl	human	known	70_37	silent	SNP	1.000	G	G	81234256	C	G	81234256	2	3	116	1	0	0	0	0	0	0	0	1	8233	784	28	4		4	KIAA1199	15	81234256	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	13710067	81234256	21297136	178	17397										
C15orf42	90381	genome.wustl.edu	37	chr15	90129000	90129000	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tggagttatttccccactctCtgccagtgctatgatcctca	7	13	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:90129000C>G	ENST00000268138.7	+	4	1343	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	TICRR_ENST00000560985.1_Missense_Mutation_p.S412C|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	413					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCCCACTCTCTGCCAGTGCT	0.532																																																	0													73	76	75					15																	90129000		1967	4156	6123	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1238C>G	15.37:g.90129000C>G	ENSP00000268138:p.Ser413Cys		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.S413C	ENST00000268138.7	37	c.1238	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016001	0.54468	.	.	ENSG00000140534	ENST00000268138	T	0.18960	2.18	5.39	5.39	0.77823	.	0.060152	0.64402	D	0.000001	T	0.46580	0.1400	M	0.70275	2.135	0.38590	D	0.950399	D	0.76494	0.999	D	0.68483	0.958	T	0.49925	-0.8887	10	0.87932	D	0	-13.1089	17.3119	0.87212	0.0:1.0:0.0:0.0	.	413	Q7Z2Z1	TICRR_HUMAN	C	413	ENSP00000268138:S413C	ENSP00000268138:S413C	S	+	2	0	C15orf42	87930004	0.850000	0.29656	0.080000	0.20451	0.366000	0.29705	4.690000	0.61731	2.703000	0.92315	0.637000	0.83480	TCT	TICRR	-	NULL		0.532	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90129000	1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.506	G	G	90129000	C	G	90129000	3	3	116	1	0	0	0	0	1	0	0	0	1800	913	32	1	1252	1	C15orf42	15	90129000	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	8894744	90129000	12402392	179	17398										
SEMA4B	10519	genome.wustl.edu	37	chr15	90771715	90771715	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tagcaccccgctcgatcaccGagggtaccagtccctgtcag	10	16	2	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:90771715G>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Missense_Mutation_p.R785Q|SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Missense_Mutation_p.R785Q	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTCGATCACCGAGGGTACCAG	0.647																																																	0													20	23	22					15																	90771715		1935	4117	6052	SO:0001628	intergenic_variant	10509			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771715G>A			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.R785Q	ENST00000328649.6	37	c.2354	CCDS10360.1	15	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892552	0.33442	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.77620	-1.11;-1.11	4.75	1.85	0.25348	.	0.142348	0.44688	N	0.000422	T	0.48466	0.1501	N	0.03608	-0.345	0.80722	D	1	B;B	0.30741	0.293;0.293	B;B	0.17098	0.017;0.017	T	0.47341	-0.9125	10	0.72032	D	0.01	.	5.6077	0.17389	0.4676:0.0:0.5324:0.0	.	785;780	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	Q	785	ENSP00000332204:R785Q;ENSP00000394720:R785Q	ENSP00000332204:R785Q	R	+	2	0	SEMA4B	88572719	1.000000	0.71417	0.998000	0.56505	0.204000	0.24138	4.595000	0.61048	0.719000	0.32188	0.561000	0.74099	CGA	SEMA4B	-	NULL		0.647	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1	G			90771715	1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90771715	G	A	90771715	1	1	116	0	1	0	0	0	0	0	0	0	14062	1058	37	1		1	SEMA4B	15	90771715	IGR	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	642715	90771715	11759677	180	17399										
IQGAP1	8826	genome.wustl.edu	37	chr15	91009278	91009278	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tatggttggatgaaattcaaGgtggaatctggcagtccaac	12	6	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr15:91009278G>C	ENST00000268182.5	+	16	1946	c.1822G>C	c.(1822-1824)Ggt>Cgt	p.G608R	IQGAP1_ENST00000560738.1_Splice_Site	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	608					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGAAATTCAAGGTGGAATCTG	0.403																																																	0													157	154	155					15																	91009278		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1822G>C	15.37:g.91009278G>C	ENSP00000268182:p.Gly608Arg		A7MBM3	Splice_Site	SNP	-	e3-1	ENST00000268182.5	37	c.107-1	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241484	0.79912	.	.	ENSG00000140575	ENST00000268182	T	0.07444	3.19	5.38	4.45	0.53987	.	0.117947	0.56097	D	0.000037	T	0.07638	0.0192	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.17098	0.017	T	0.27400	-1.0075	10	0.22109	T	0.4	-14.0425	13.6583	0.62352	0.0754:0.0:0.9246:0.0	.	608	P46940	IQGA1_HUMAN	R	608	ENSP00000268182:G608R	ENSP00000268182:G608R	G	+	1	0	IQGAP1	88810282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.685000	0.84117	2.808000	0.96608	0.655000	0.94253	GGT	IQGAP1	-	-		0.403	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		91009278	1	no_errors	ENST00000560738	ensembl	human	novel	70_37	splice_site	SNP	1.000	C	C	91009278	G	C	91009278	3	2	116	1	0	0	0	0	1	0	0	0	7834	1000	35	4	1884	4	IQGAP1	15	91009278	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	237563	91009278	11522114	181	17400										
ZNF500	26048	genome.wustl.edu	37	chr16	4812281	4812281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	atcccactcacctgggaccaGgccgaaaggaagggcgaggc	14	13	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:4812281G>A	ENST00000219478.6	-	4	953	c.654C>T	c.(652-654)gcC>gcT	p.A218A	ZNF500_ENST00000545009.1_Silent_p.A218A			O60304	ZN500_HUMAN	zinc finger protein 500	218					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGGGACCAGGCCGAAAGGA	0.627																																																	0													49	42	44					16																	4812281		2193	4298	6491	SO:0001819	synonymous_variant	26048			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.654C>T	16.37:g.4812281G>A			A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A218	ENST00000219478.6	37	c.654	CCDS32383.1	16																																																																																			ZNF500	-	superfamily_Krueppel-associated_box		0.627	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	G	XM_085507		4812281	-1	no_errors	ENST00000219478	ensembl	human	known	70_37	silent	SNP	0.987	A	A	4812281	G	A	4812281	2	1	116	1	0	0	0	0	0	0	0	1	17978	987	35	4		4	ZNF500	16	4812281	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		4812281	85542472	182	17401										
UBN1	29855	genome.wustl.edu	37	chr16	4925053	4925053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gaccccagcctcgtcctcttCtgccctgagccatccagcaa	7	19	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:4925053C>T	ENST00000396658.4	+	14	3345	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	UBN1_ENST00000590769.1_Missense_Mutation_p.S881F|UBN1_ENST00000545171.1_Missense_Mutation_p.S881F|UBN1_ENST00000262376.6_Missense_Mutation_p.S881F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	881	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCGTCCTCTTCTGCCCTGAGC	0.572																																																	0													63	63	63					16																	4925053		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2642C>T	16.37:g.4925053C>T	ENSP00000379894:p.Ser881Phe		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.S881F	ENST00000396658.4	37	c.2642	CCDS10525.1	16	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489126	0.26686	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46063	1.38;0.88;1.38	5.2	5.2	0.72013	.	0.885835	0.09969	N	0.732493	T	0.33556	0.0867	N	0.14661	0.345	0.09310	N	1	B;B	0.27791	0.189;0.002	B;B	0.35607	0.206;0.001	T	0.28964	-1.0027	10	0.59425	D	0.04	-0.0337	11.5096	0.50486	0.0:0.9182:0.0:0.0818	.	881;881	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	F	881	ENSP00000262376:S881F;ENSP00000442379:S881F;ENSP00000379894:S881F	ENSP00000262376:S881F	S	+	2	0	UBN1	4865054	0.049000	0.20398	0.012000	0.15200	0.761000	0.43186	3.637000	0.54324	2.709000	0.92574	0.563000	0.77884	TCT	UBN1	-	NULL		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	C	NM_016936		4925053	1	no_errors	ENST00000262376	ensembl	human	known	70_37	missense	SNP	0.013	T	T	4925053	C	T	4925053	3	4	116	1	0	0	0	0	1	0	0	0	16923	913	32	1	2696	1	UBN1	16	4925053	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	112772	4925053	85429700	183	17402										
MYH11	4629	genome.wustl.edu	37	chr16	15835413	15835413	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gcctccatctcatgcagtatCtcctccagctcctgcttctt	5	17	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:15835413C>T	ENST00000300036.5	-	22	2875	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Silent_p.E929E|MYH11_ENST00000576790.2_Silent_p.E922E|MYH11_ENST00000452625.2_Silent_p.E929E	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	922					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CATGCAGTATCTCCTCCAGCT	0.597			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													104	107	106					16																	15835413		2197	4300	6497	SO:0001819	synonymous_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2766G>A	16.37:g.15835413C>T			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E929	ENST00000300036.5	37	c.2787	CCDS10565.1	16																																																																																			MYH11	-	NULL		0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	C	NM_001040113		15835413	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15835413	C	T	15835413	2	4	116	1	0	0	0	0	0	0	0	1	10054	912	32	1		1	MYH11	16	15835413	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	10910360	15835413	74519340	184	17403										
ABCC11	85320	genome.wustl.edu	37	chr16	48244925	48244925	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttcccttcttcctctggcccGagggcatctctaggcctggt	10	15	3	0	rs374088211		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:48244925G>A	ENST00000394747.1	-	10	1891	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	ABCC11_ENST00000537808.1_Silent_p.L514L|ABCC11_ENST00000353782.5_Silent_p.L514L|ABCC11_ENST00000356608.2_Silent_p.L514L|ABCC11_ENST00000394748.1_Silent_p.L514L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	514	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCTCTGGCCCGAGGGCATCTC	0.607																																																	0													101	85	90					16																	48244925		2201	4300	6501	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1542C>T	16.37:g.48244925G>A			Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L514	ENST00000394747.1	37	c.1542	CCDS10732.1	16																																																																																			ABCC11	-	superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter-like		0.607	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48244925	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48244925	G	A	48244925	2	1	116	1	0	0	0	0	0	0	0	1	51	1045	37	1		1	ABCC11	16	48244925	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	32409512	48244925	42109828	185	17404										
CES3	23491	genome.wustl.edu	37	chr16	67006823	67006823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gcggaacaatatctggagatCaacccagtgccacgggccgg	13	12	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:67006823C>G	ENST00000303334.4	+	13	1658	c.1587C>G	c.(1585-1587)atC>atG	p.I529M	CES3_ENST00000543856.1_Missense_Mutation_p.I168M|CES3_ENST00000394037.1_Missense_Mutation_p.I526M	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		ATCTGGAGATCAACCCAGTGC	0.572																																																	0													94	96	95					16																	67006823		2200	4300	6500	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1587C>G	16.37:g.67006823C>G	ENSP00000304782:p.Ile529Met		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.I529M	ENST00000303334.4	37	c.1587	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143992	0.57044	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.11169	2.8;2.8;2.8	4.82	-2.41	0.06562	Carboxylesterase, type B (1);	0.486350	0.15330	N	0.268092	T	0.14830	0.0358	M	0.71296	2.17	0.09310	N	1	D;P	0.58268	0.982;0.607	P;P	0.51974	0.686;0.507	T	0.10567	-1.0624	10	0.87932	D	0	.	1.7429	0.02956	0.1357:0.2979:0.1334:0.4329	.	168;529	F5H242;Q6UWW8	.;EST3_HUMAN	M	529;526;168	ENSP00000304782:I529M;ENSP00000377602:I526M;ENSP00000445559:I168M	ENSP00000304782:I529M	I	+	3	3	CES3	65564324	0.003000	0.15002	0.081000	0.20488	0.237000	0.25408	-0.106000	0.10890	-0.119000	0.11830	0.579000	0.79373	ATC	CES3	-	pfam_CarbesteraseB		0.572	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	C	NM_024922		67006823	1	no_errors	ENST00000303334	ensembl	human	known	70_37	missense	SNP	0.001	G	G	67006823	C	G	67006823	3	3	116	1	0	0	0	0	1	0	0	0	3276	816	29	1	1637	1	CES3	16	67006823	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	18761898	67006823	23347930	186	17405										
HSF4	3299	genome.wustl.edu	37	chr16	67200499	67200499	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gggccacttcaggcggggccGagcaatgcaggaggcaagag	18	10	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:67200499G>T	ENST00000521374.1	+	6	600	c.600G>T	c.(598-600)ccG>ccT	p.P200P	HSF4_ENST00000264009.8_Silent_p.P200P|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Silent_p.P200P|HSF4_ENST00000421453.1_Silent_p.P200P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	200	Hydrophobic repeat HR-A/B.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGGCGGGGCCGAGCAATGCAG	0.562																																																	0													55	62	60					16																	67200499		1937	4148	6085	SO:0001819	synonymous_variant	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.600G>T	16.37:g.67200499G>T			Q99472|Q9ULV6	Nonsense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.E181*	ENST00000521374.1	37	c.541	CCDS42175.1	16	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267815	0.59540	.	.	ENSG00000102878	ENST00000517750	.	.	.	4.43	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4216	6.073	0.19899	0.0:0.65:0.1672:0.1827	.	.	.	.	X	47	.	.	E	+	1	0	HSF4	65758000	0.991000	0.36638	0.325000	0.25375	0.719000	0.41307	0.321000	0.19558	0.476000	0.27440	-0.344000	0.07964	GAG	HSF4	-	NULL		0.562	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	G	NM_001538		67200499	1	no_errors	ENST00000522295	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67200499	G	T	67200499	2	4	116	1	0	0	0	0	0	0	0	1	7418	1045	37	3		3	HSF4	16	67200499	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	193676	67200499	23154254	187	17406										
HSBP1	3281	genome.wustl.edu	37	chr16	83842329	83842329	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caagataaatttcagaccatGtctgaccagatcattgggag	9	8	3	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:83842329G>C	ENST00000433866.2	+	2	324	c.90G>C	c.(88-90)atG>atC	p.M30I	HSBP1_ENST00000570259.1_Missense_Mutation_p.M30I|RP11-483P21.2_ENST00000565064.1_RNA|RP11-483P21.2_ENST00000561599.1_RNA	NM_001537.3	NP_001528.1	O75506	HSBP1_HUMAN	heat shock factor binding protein 1	30					muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)						all_cancers(2;0.00573)|all_epithelial(2;0.0309)		BRCA - Breast invasive adenocarcinoma(80;0.0404)		TTCAGACCATGTCTGACCAGA	0.473																																																	0													119	110	113					16																	83842329		1908	4140	6048	SO:0001583	missense	3281			AF068754	CCDS45534.1	16q23.3	2008-02-05				ENSG00000230989			5203	protein-coding gene	gene with protein product		604553				9649501, 9493008	Standard	NM_001537		Approved		uc002fgy.2	O75506		ENST00000433866.2:c.90G>C	16.37:g.83842329G>C	ENSP00000392896:p.Met30Ile		Q53XA8|Q7Z5Z3	Missense_Mutation	SNP	pfam_HS1-bd	p.M30I	ENST00000433866.2	37	c.90	CCDS45534.1	16	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259432	0.80246	.	.	ENSG00000230989	ENST00000433866	.	.	.	5.35	5.35	0.76521	Four-helical cytokine, core (1);	0.037784	0.85682	N	0.000000	T	0.64994	0.2649	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.26416	0.069	T	0.62548	-0.6831	8	0.62326	D	0.03	-12.9709	18.0389	0.89313	0.0:0.0:1.0:0.0	.	30	O75506	HSBP1_HUMAN	I	30	.	ENSP00000392896:M30I	M	+	3	0	HSBP1	82399830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.625000	0.90965	2.668000	0.90789	0.563000	0.77884	ATG	HSBP1	-	pfam_HS1-bd		0.473	HSBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSBP1	HGNC	protein_coding	OTTHUMT00000433004.1	G	NM_001537		83842329	1	no_errors	ENST00000433866	ensembl	human	known	70_37	missense	SNP	1.000	C	C	83842329	G	C	83842329	3	2	116	1	0	0	0	0	1	0	0	0	7393	1377	48	4	96	4	HSBP1	16	83842329	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	16641830	83842329	6512424	188	17407										
BANP	54971	genome.wustl.edu	37	chr16	88037938	88037938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cagtaatactcaacaatgatCggcagaacgccattgtagcc	8	11	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr16:88037938C>T	ENST00000393207.1	+	5	597	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	BANP_ENST00000286122.7_Missense_Mutation_p.R126W|BANP_ENST00000538234.1_Missense_Mutation_p.R134W|BANP_ENST00000355022.4_Intron|BANP_ENST00000393208.2_Intron|BANP_ENST00000355163.5_Intron|BANP_ENST00000479780.2_Intron	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	126					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CAACAATGATCGGCAGAACGC	0.468																																																	0																																										SO:0001583	missense	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.376C>T	16.37:g.88037938C>T	ENSP00000376902:p.Arg126Trp		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	pfam_BEN_domain	p.R126W	ENST00000393207.1	37	c.376	CCDS54054.1	16	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578265	0.86645	.	.	ENSG00000172530	ENST00000286122;ENST00000538234;ENST00000393207	T;T;T	0.52754	0.65;0.65;0.65	5.93	5.93	0.95920	.	0.128183	0.49916	D	0.000134	T	0.55049	0.1896	N	0.24115	0.695	0.47862	D	0.999536	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	T	0.57631	-0.7778	10	0.72032	D	0.01	.	14.1896	0.65630	0.1493:0.8507:0.0:0.0	.	134;126	B4DE54;Q8N9N5	.;BANP_HUMAN	W	126;134;126	ENSP00000286122:R126W;ENSP00000444352:R134W;ENSP00000376902:R126W	ENSP00000286122:R126W	R	+	1	2	BANP	86595439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	2.797000	0.96272	0.655000	0.94253	CGG	BANP	-	NULL		0.468	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	C	NM_017869		88037938	1	no_errors	ENST00000286122	ensembl	human	known	70_37	missense	SNP	0.999	T	T	88037938	C	T	88037938	3	4	116	1	0	0	0	0	1	0	0	0	1311	875	31	1	432	1	BANP	16	88037938	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	4195609	88037938	2316815	189	17408										
PSMB6	5694	genome.wustl.edu	37	chr17	4700801	4700801	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccgcattttctgctgtcgctCaggctcagctgctgataccc	9	15	3	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:4700801C>G	ENST00000270586.3	+	3	290	c.239C>G	c.(238-240)tCa>tGa	p.S80*		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	80					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TGCTGTCGCTCAGGCTCAGCT	0.557																																																	0													110	95	100					17																	4700801		2203	4300	6503	SO:0001587	stop_gained	5694			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.239C>G	17.37:g.4700801C>G	ENSP00000270586:p.Ser80*		Q96J55	Nonsense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.S80*	ENST00000270586.3	37	c.239	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834582	0.50951	.	.	ENSG00000142507	ENST00000270586	.	.	.	5.65	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.9953	12.3576	0.55184	0.0:0.9198:0.0:0.0802	.	.	.	.	X	80	.	ENSP00000270586:S80X	S	+	2	0	PSMB6	4647759	1.000000	0.71417	0.993000	0.49108	0.231000	0.25187	6.371000	0.73119	1.636000	0.50526	-0.136000	0.14681	TCA	PSMB6	-	pfam_Proteasome_sua/b		0.557	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2	C	NM_002798		4700801	1	no_errors	ENST00000270586	ensembl	human	known	70_37	nonsense	SNP	0.998	G	G	4700801	C	G	4700801	4	3	116	1	0	0	0	0	0	1	0	0	12708	838	29	1	249	1	PSMB6	17	4700801	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		4700801	76494409	190	17409										
SPEM1	374768	genome.wustl.edu	37	chr17	7324764	7324764	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	attttcccggcaccgctcctCaggccgaatagtgtatgatg	10	12	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:7324764C>G	ENST00000323675.3	+	3	795	c.770C>G	c.(769-771)tCa>tGa	p.S257*	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	257					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CACCGCTCCTCAGGCCGAATA	0.667																																																	0													29	32	31					17																	7324764		1969	4128	6097	SO:0001587	stop_gained	374768			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.770C>G	17.37:g.7324764C>G	ENSP00000315554:p.Ser257*			Nonsense_Mutation	SNP	NULL	p.S257*	ENST00000323675.3	37	c.770	CCDS42254.1	17	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562071	0.86335	.	.	ENSG00000181323	ENST00000323675	.	.	.	5.48	4.51	0.55191	.	0.524046	0.15288	N	0.270314	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.8002	9.2114	0.37320	0.0:0.9036:0.0:0.0964	.	.	.	.	X	257	.	ENSP00000315554:S257X	S	+	2	0	SPEM1	7265488	0.789000	0.28775	0.644000	0.29465	0.962000	0.63368	1.497000	0.35649	2.566000	0.86566	0.655000	0.94253	TCA	SPEM1	-	NULL		0.667	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEM1	HGNC	protein_coding	OTTHUMT00000440932.1	C	NM_199339		7324764	1	no_errors	ENST00000323675	ensembl	human	known	70_37	nonsense	SNP	0.681	G	G	7324764	C	G	7324764	4	3	116	1	0	0	0	0	0	1	0	0	15067	838	29	1	780	1	SPEM1	17	7324764	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2623963	7324764	73870446	191	17410										
SLC25A35	399512	genome.wustl.edu	37	chr17	8197763	8197763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cttcttaccatgtagatgggGctccccaagtaggctcccat	9	13	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:8197763G>A	ENST00000577745.1	-	1	873	c.363C>T	c.(361-363)agC>agT	p.S121S	SLC25A35_ENST00000380067.2_Silent_p.S121S|SLC25A35_ENST00000579192.1_Silent_p.S121S|SLC25A35_ENST00000396278.1_Silent_p.S121S|SLC25A35_ENST00000580340.1_Silent_p.S121S			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	121					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						TGTAGATGGGGCTCCCCAAGT	0.617																																																	0													24	23	23					17																	8197763		2181	4252	6433	SO:0001819	synonymous_variant	399512			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"Solute carriers"	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.363C>T	17.37:g.8197763G>A			Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S121	ENST00000577745.1	37	c.363		17																																																																																			SLC25A35	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.617	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	HGNC	protein_coding	OTTHUMT00000442146.1	G	NM_201520		8197763	-1	no_errors	ENST00000577745	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8197763	G	A	8197763	2	1	116	1	0	0	0	0	0	0	0	1	14529	1194	42	4		4	SLC25A35	17	8197763	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	872999	8197763	72997447	192	17411										
NUFIP2	57532	genome.wustl.edu	37	chr17	27614309	27614309	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctgcactatattaaggttttCacaacccttggcactattgc	6	11	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:27614309C>G	ENST00000225388.4	-	2	761	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	235						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTAAGGTTTTCACAACCCTTG	0.403																																																	0													143	142	142					17																	27614309		2203	4300	6503	SO:0001583	missense	57532			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.703G>C	17.37:g.27614309C>G	ENSP00000225388:p.Glu235Gln		A1L3A6|Q9P2M5	Missense_Mutation	SNP	NULL	p.E235Q	ENST00000225388.4	37	c.703	CCDS32600.1	17	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303234	0.60195	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	5.21	0.72293	.	0.065058	0.64402	D	0.000006	T	0.51652	0.1687	L	0.32530	0.975	0.80722	D	1	P	0.36535	0.557	B	0.39419	0.299	T	0.56353	-0.7993	9	0.66056	D	0.02	-12.7081	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	235	Q7Z417	NUFP2_HUMAN	Q	235	.	ENSP00000225388:E235Q	E	-	1	0	NUFIP2	24638435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.001000	0.76297	1.620000	0.50308	0.655000	0.94253	GAA	NUFIP2	-	NULL		0.403	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP2	HGNC	protein_coding	OTTHUMT00000447015.2	C	NM_020772		27614309	-1	no_errors	ENST00000225388	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27614309	C	G	27614309	3	3	116	1	0	0	0	0	1	0	0	0	10773	835	29	1	1396	1	NUFIP2	17	27614309	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	19416546	27614309	53580901	193	17412										
BLMH	642	genome.wustl.edu	37	chr17	28614948	28614948	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tccacaaaagcactcaagaaGaaataacagcgttcaaccta	5	11	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:28614948G>A	ENST00000261714.6	-	4	513	c.339C>T	c.(337-339)ttC>ttT	p.F113F	BLMH_ENST00000394819.3_Silent_p.F26F|RNU6-1267P_ENST00000410747.1_RNA|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	113					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CACTCAAGAAGAAATAACAGC	0.388																																					Pancreas(127;628 1772 12912 33293 36203)												0													81	79	79					17																	28614948		2203	4300	6503	SO:0001819	synonymous_variant	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.339C>T	17.37:g.28614948G>A			B2R796|Q53F86|Q9UER9	Silent	SNP	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.F113	ENST00000261714.6	37	c.339	CCDS32604.1	17																																																																																			BLMH	-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B		0.388	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	HGNC	protein_coding	OTTHUMT00000447940.1	G	NM_000386		28614948	-1	no_errors	ENST00000261714	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28614948	G	A	28614948	2	1	116	1	0	0	0	0	0	0	0	1	1447	933	33	1		1	BLMH	17	28614948	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1000639	28614948	52580262	194	17413										
LIG3	3980	genome.wustl.edu	37	chr17	33318723	33318723	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agacaatcagagtcttctttGagcagagcaagtctttcccc	8	11	4	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:33318723G>A	ENST00000378526.4	+	6	1208	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	LIG3_ENST00000262327.5_Missense_Mutation_p.E359K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	359					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGTCTTCTTTGAGCAGAGCAA	0.537								Other BER factors																																									0													101	90	94					17																	33318723		2203	4300	6503	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1075G>A	17.37:g.33318723G>A	ENSP00000367787:p.Glu359Lys		Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.E359K	ENST00000378526.4	37	c.1075	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770802	0.69992	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.16196	2.36;2.36	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.097921	0.64402	D	0.000001	T	0.16642	0.0400	L	0.42632	1.34	0.80722	D	1	B;B;B	0.33583	0.418;0.418;0.242	B;B;B	0.32393	0.145;0.145;0.145	T	0.04946	-1.0916	10	0.13853	T	0.58	-31.9864	18.5685	0.91126	0.0:0.0:1.0:0.0	.	359;359;359	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	K	359	ENSP00000367787:E359K;ENSP00000262327:E359K	ENSP00000262327:E359K	E	+	1	0	LIG3	30342836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.419000	0.97397	2.861000	0.98227	0.655000	0.94253	GAG	LIG3	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep		0.537	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	G	NM_013975		33318723	1	no_errors	ENST00000378526	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33318723	G	A	33318723	3	1	116	1	0	0	0	0	1	0	0	0	8802	1291	45	1	1093	1	LIG3	17	33318723	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	4703775	33318723	47876487	195	17414										
RFFL	117584	genome.wustl.edu	37	chr17	33353531	33353531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggtggtgggacctcctcaggCtgtccatccaggcagaacca	13	13	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:33353531C>G	ENST00000315249.7	-	2	264	c.42G>C	c.(40-42)caG>caC	p.Q14H	RFFL_ENST00000413582.2_Missense_Mutation_p.Q14H|RFFL_ENST00000268850.7_Missense_Mutation_p.Q14H|RFFL_ENST00000415395.2_Missense_Mutation_p.Q14H|RFFL_ENST00000394597.2_Missense_Mutation_p.Q14H|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.Q14H|RFFL_ENST00000447669.2_Missense_Mutation_p.Q14H|RFFL_ENST00000378516.2_Missense_Mutation_p.Q14H					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCTCCTCAGGCTGTCCATCCA	0.562																																																	0													56	47	50					17																	33353531		2203	4300	6503	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.42G>C	17.37:g.33353531C>G	ENSP00000326170:p.Gln14His			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.Q14H	ENST00000315249.7	37	c.42	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616797	0.28801	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419;ENST00000447669	T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.32	2.07	0.26955	Zinc finger, FYVE/PHD-type (1);	0.453537	0.24048	N	0.042030	T	0.57227	0.2039	N	0.22421	0.69	0.27636	N	0.947869	B;B;B;B	0.11235	0.004;0.002;0.004;0.002	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.49041	-0.8980	10	0.56958	D	0.05	-16.4146	0.9865	0.01447	0.1588:0.3755:0.1375:0.3282	.	14;14;14;14	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	H	14	ENSP00000326170:Q14H;ENSP00000378096:Q14H;ENSP00000367777:Q14H;ENSP00000268850:Q14H;ENSP00000408513:Q14H;ENSP00000412322:Q14H;ENSP00000395090:Q14H;ENSP00000389832:Q14H	ENSP00000268850:Q14H	Q	-	3	2	RFFL	30377644	0.999000	0.42202	1.000000	0.80357	0.891000	0.51852	0.534000	0.23098	0.821000	0.34540	-0.142000	0.14014	CAG	RFFL	-	superfamily_Znf_FYVE_PHD		0.562	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	C	NM_057178		33353531	-1	no_errors	ENST00000315249	ensembl	human	known	70_37	missense	SNP	0.999	G	G	33353531	C	G	33353531	3	3	116	1	0	0	0	0	1	0	0	0	13280	796	28	4	1073	4	RFFL	17	33353531	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	34808	33353531	47841679	196	17415										
RAPGEFL1	51195	genome.wustl.edu	37	chr17	38340914	38340914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgaggctgcaccagctggtgGagacggtggaactaaagtga	16	7	0	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:38340914G>A	ENST00000456989.2	+	4	410	c.364G>A	c.(364-366)Gag>Aag	p.E122K	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.E67K|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.E116K|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.E67K			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	273					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCTGGTGGAGACGGTGGA	0.582																																					Esophageal Squamous(28;274 750 6870 14218 42203)												0													21	19	20					17																	38340914		2203	4300	6503	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.364G>A	17.37:g.38340914G>A	ENSP00000394530:p.Glu122Lys			Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.E67K	ENST00000456989.2	37	c.199		17	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789496	0.70337	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615;ENST00000538981	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.26	5.26	0.73747	Ras guanine nucleotide exchange factor, domain (1);	0.190715	0.32372	N	0.006181	T	0.40398	0.1115	N	0.24115	0.695	0.45946	D	0.998774	D	0.61697	0.99	P	0.57620	0.824	T	0.12604	-1.0541	10	0.05351	T	0.99	.	15.7937	0.78388	0.0:0.0:1.0:0.0	.	273	Q9UHV5	RPGFL_HUMAN	K	122;67;116;67;272;67;67	ENSP00000394530:E122K;ENSP00000440226:E67K;ENSP00000438631:E116K;ENSP00000408322:E67K;ENSP00000441059:E67K	ENSP00000264644:E272K	E	+	1	0	RAPGEFL1	35594440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.585000	0.67497	2.460000	0.83146	0.655000	0.94253	GAG	RAPGEFL1	-	superfamily_Ras_GEF_dom		0.582	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	RAPGEFL1	HGNC	protein_coding	OTTHUMT00000397518.1	G	NM_016339		38340914	1	no_errors	ENST00000264644	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38340914	G	A	38340914	3	1	116	1	0	0	0	0	1	0	0	0	13079	1175	41	1	205	1	RAPGEFL1	17	38340914	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	4987383	38340914	42854296	197	17416										
ACLY	47	genome.wustl.edu	37	chr17	40025361	40025361	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccgatgagaccatctacattCaggataagatttggcttctg	9	9	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:40025361C>T	ENST00000352035.2	-	27	3199	c.3069G>A	c.(3067-3069)ctG>ctA	p.L1023L	ACLY_ENST00000537919.1_Silent_p.L752L|ACLY_ENST00000353196.1_Silent_p.L1013L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Silent_p.L1013L|ACLY_ENST00000590151.1_Silent_p.L1023L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1023					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATCTACATTCAGGATAAGAT	0.363																																					Colon(64;807 1396 15971 30971)												0													157	157	157					17																	40025361		2203	4300	6503	SO:0001819	synonymous_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3069G>A	17.37:g.40025361C>T			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.L1023	ENST00000352035.2	37	c.3069	CCDS11412.1	17																																																																																			ACLY	-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase		0.363	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	C	NM_001096		40025361	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40025361	C	T	40025361	2	4	116	1	0	0	0	0	0	0	0	1	143	813	29	1		1	ACLY	17	40025361	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1684447	40025361	41169849	198	17417										
MEOX1	4222	genome.wustl.edu	37	chr17	41720864	41720864	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccgggggcgcacctggcgctCagagaggtccaggtttaccg	16	13	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:41720864C>A	ENST00000318579.4	-	2	1053	c.634G>T	c.(634-636)Gag>Tag	p.E212*	MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Nonsense_Mutation_p.E97*	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	212					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		ACCTGGCGCTCAGAGAGGTCC	0.597																																																	0													47	43	45					17																	41720864		2203	4298	6501	SO:0001587	stop_gained	4222				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.634G>T	17.37:g.41720864C>A	ENSP00000321684:p.Glu212*		A8K524|A8MWF9|Q15069	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E212*	ENST00000318579.4	37	c.634	CCDS11466.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.296710	0.98192	.	.	ENSG00000005102	ENST00000318579;ENST00000393661	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.8327	16.0393	0.80651	0.0:1.0:0.0:0.0	.	.	.	.	X	212;97	.	ENSP00000321684:E212X	E	-	1	0	MEOX1	39076390	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.184000	0.77705	2.015000	0.59207	0.491000	0.48974	GAG	MEOX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.597	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	C			41720864	-1	no_errors	ENST00000318579	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	41720864	C	A	41720864	4	1	116	1	0	0	0	0	0	1	0	0	9496	835	29	3	138	3	MEOX1	17	41720864	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1695503	41720864	39474346	199	17418										
UBTF	7343	genome.wustl.edu	37	chr17	42289777	42289777	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cctctttttgtccgagagctGagaccactgcttccccaggg	10	14	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:42289777G>A	ENST00000302904.4	-	8	1198	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Intron|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q236*|UBTF_ENST00000537550.1_5'Flank|UBTF_ENST00000393606.3_Intron|UBTF_ENST00000527034.1_Intron|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q236*|UBTF_ENST00000343638.5_Intron|UBTF_ENST00000533177.1_Intron			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	236					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCGAGAGCTGAGACCACTGC	0.617																																																	0													112	104	107					17																	42289777		2203	4300	6503	SO:0001587	stop_gained	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.706C>T	17.37:g.42289777G>A	ENSP00000302640:p.Gln236*		A8K6R8	Nonsense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q236*	ENST00000302904.4	37	c.706	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	g	39	7.799703	0.98495	.	.	ENSG00000108312	ENST00000302904;ENST00000436088;ENST00000529383	.	.	.	4.94	2.85	0.33270	.	0.124620	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-15.0667	9.6679	0.39996	0.0794:0.1435:0.7771:0.0	.	.	.	.	X	236	.	ENSP00000302640:Q236X	Q	-	1	0	UBTF	39645303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.881000	0.87252	1.153000	0.42468	0.456000	0.33151	CAG	UBTF	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily		0.617	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	G	NM_014233		42289777	-1	no_errors	ENST00000302904	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	42289777	G	A	42289777	4	1	116	1	0	0	0	0	0	1	0	0	16940	1299	45	1	1644	1	UBTF	17	42289777	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	568913	42289777	38905433	200	17419										
SP2	6668	genome.wustl.edu	37	chr17	45994224	45994224	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agccccctgtggctgtggctGagcaggtggagacggtgctg	18	10	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:45994224G>A	ENST00000376741.4	+	3	924	c.787G>A	c.(787-789)Gag>Aag	p.E263K	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	263					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGCTGTGGCTGAGCAGGTGGA	0.592																																																	0													102	108	106					17																	45994224		2203	4300	6503	SO:0001583	missense	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.787G>A	17.37:g.45994224G>A	ENSP00000365931:p.Glu263Lys		A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E263K	ENST00000376741.4	37	c.787	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164840	0.57476	.	.	ENSG00000167182	ENST00000376741	T	0.09911	2.93	5.39	5.39	0.77823	.	0.173555	0.49916	D	0.000127	T	0.14399	0.0348	L	0.50333	1.59	0.51012	D	0.999905	P	0.52463	0.953	P	0.47603	0.551	T	0.01152	-1.1435	10	0.28530	T	0.3	.	11.4901	0.50377	0.0824:0.0:0.9176:0.0	.	263	Q02086	SP2_HUMAN	K	263	ENSP00000365931:E263K	ENSP00000365931:E263K	E	+	1	0	SP2	43349223	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	6.128000	0.71650	2.809000	0.96659	0.467000	0.42956	GAG	SP2	-	NULL		0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	G	NM_003110		45994224	1	no_errors	ENST00000376741	ensembl	human	known	70_37	missense	SNP	0.998	A	A	45994224	G	A	45994224	3	1	116	1	0	0	0	0	1	0	0	0	14994	1291	45	1	797	1	SP2	17	45994224	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	3704447	45994224	35200986	201	17420										
PPM1D	8493	genome.wustl.edu	37	chr17	58740432	58740432	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggttcgtagcaatgccttctCagagaattttttagaggttt	10	6	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:58740432C>G	ENST00000305921.3	+	6	1569	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	446					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AATGCCTTCTCAGAGAATTTT	0.433											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													102	101	102					17																	58740432		2203	4300	6503	SO:0001587	stop_gained	8493			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1337C>G	17.37:g.58740432C>G	ENSP00000306682:p.Ser446*	1033	Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S446*	ENST00000305921.3	37	c.1337	CCDS11625.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.477159	0.98309	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-12.6116	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	.	.	.	X	446	.	ENSP00000306682:S446X	S	+	2	0	PPM1D	56095214	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.356000	0.44116	2.894000	0.99253	0.591000	0.81541	TCA	PPM1D	-	NULL		0.433	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	C	NM_003620		58740432	1	no_errors	ENST00000305921	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	58740432	C	G	58740432	4	3	116	1	0	0	0	0	0	1	0	0	12364	838	29	1	1359	1	PPM1D	17	58740432	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	12746208	58740432	22454778	202	17421										
C17orf80	55028	genome.wustl.edu	37	chr17	71243444	71243444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgcattggtgtggcgaagacGactggggattgccgctctaa	15	8	1	1	rs368091108		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:71243444G>A	ENST00000535032.2	+	5	1907	c.1794G>A	c.(1792-1794)acG>acA	p.T598T	C17orf80_ENST00000577615.1_Silent_p.T562T|C17orf80_ENST00000359042.2_Silent_p.T598T|C17orf80_ENST00000582793.1_Silent_p.T67T|RP11-661C3.2_ENST00000579037.1_RNA|C17orf80_ENST00000268942.8_Silent_p.T562T			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	598						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCGAAGACGACTGGGGATT	0.483																																																	0								G	,	0,4406		0,0,2203	178	152	161		1686,1794	-4.4	0	17		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C17orf80	NM_001100621.1,NM_017941.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	562/574,598/610	71243444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55028			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1794G>A	17.37:g.71243444G>A			A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	NULL	p.T598	ENST00000535032.2	37	c.1794	CCDS11694.1	17																																																																																			C17orf80	-	NULL		0.483	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf80	HGNC	protein_coding	OTTHUMT00000441893.1	G	NM_017941		71243444	1	no_errors	ENST00000359042	ensembl	human	known	70_37	silent	SNP	0.000	A	A	71243444	G	A	71243444	2	1	116	1	0	0	0	0	0	0	0	1	1889	1045	37	1		1	C17orf80	17	71243444	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	12503012	71243444	9951766	203	17422										
DNAH17	8632	genome.wustl.edu	37	chr17	76490199	76490199	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tcctccagctgcaccaccttCagcacgaagctgtcctccgc	7	19	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr17:76490199C>G	ENST00000585328.1	-	41	6436	c.6312G>C	c.(6310-6312)ctG>ctC	p.L2104L	DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.L2095L|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2095	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			GCACCACCTTCAGCACGAAGC	0.607																																																	0													39	44	42					17																	76490199		2183	4282	6465	SO:0001819	synonymous_variant	8632			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.6312G>C	17.37:g.76490199C>G			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L2095	ENST00000585328.1	37	c.6285		17																																																																																			DNAH17	-	NULL		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76490199	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	1.000	G	G	76490199	C	G	76490199	2	3	116	1	0	0	0	0	0	0	0	1	4611	813	29	1		1	DNAH17	17	76490199	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	5246755	76490199	4705011	204	17423										
DSG4	147409	genome.wustl.edu	37	chr18	28956917	28956917	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acatttgccttttgatcattCtaatggtaagtagaatttaa	6	5	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr18:28956917C>G	ENST00000308128.4	+	1	178	c.43C>G	c.(43-45)Cta>Gta	p.L15V	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L15V|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	15					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTGATCATTCTAATGGTAAG	0.413																																																	0													102	89	94					18																	28956917		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.43C>G	18.37:g.28956917C>G	ENSP00000311859:p.Leu15Val		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.L15V	ENST00000308128.4	37	c.43	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	C	3.878	-0.026627	0.07589	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.60424	0.27;0.19	5.99	1.37	0.22104	.	0.870070	0.09131	N	0.844367	T	0.49423	0.1556	L	0.59436	1.845	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.004;0.009	T	0.42361	-0.9456	10	0.42905	T	0.14	.	4.0294	0.09701	0.0:0.2609:0.1858:0.5533	.	15;15	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	15	ENSP00000311859:L15V;ENSP00000352785:L15V	ENSP00000311859:L15V	L	+	1	2	DSG4	27210915	1.000000	0.71417	0.005000	0.12908	0.035000	0.12851	0.627000	0.24506	0.012000	0.14892	-0.176000	0.13171	CTA	DSG4	-	NULL		0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	C	NM_177986		28956917	1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	0.108	G	G	28956917	C	G	28956917	3	3	116	1	0	0	0	0	1	0	0	0	4789	912	32	1	45	1	DSG4	18	28956917	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		28956917	49120331	205	17424										
RTTN	25914	genome.wustl.edu	37	chr18	67718769	67718769	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tccatgtgtgataaaaagctGatattaactctttatctata	5	6	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr18:67718769G>C	ENST00000255674.6	-	39	5487	c.5201C>G	c.(5200-5202)tCa>tGa	p.S1734*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1734					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATAAAAAGCTGATATTAACTC	0.378																																																	0													54	49	51					18																	67718769		1836	4096	5932	SO:0001587	stop_gained	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5201C>G	18.37:g.67718769G>C	ENSP00000255674:p.Ser1734*		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1734*	ENST00000255674.6	37	c.5201	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	46	12.550868	0.99677	.	.	ENSG00000176225	ENST00000255674	.	.	.	5.66	1.37	0.22104	.	1.164570	0.06030	N	0.652882	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	6.2902	0.21054	0.2499:0.0:0.6099:0.1402	.	.	.	.	X	1734	.	ENSP00000255674:S1734X	S	-	2	0	RTTN	65869749	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	0.280000	0.18790	0.325000	0.23359	0.650000	0.86243	TCA	RTTN	-	NULL		0.378	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67718769	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	67718769	G	C	67718769	4	2	116	1	0	0	0	0	0	1	0	0	13767	1294	45	1	1523	1	RTTN	18	67718769	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	38761852	67718769	10358479	206	17425										
MADCAM1	8174	genome.wustl.edu	37	chr19	501802	501802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tccccggagcctcccgacaaGacctccccggagcccgcccc	9	23	0	1	rs75905809		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:501802G>C	ENST00000215637.3	+	4	847	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.K48N|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	267	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGACAAGACCTCCCCGG	0.721																																																	0													12	14	13					19																	501802		2117	4139	6256	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.801G>C	19.37:g.501802G>C	ENSP00000215637:p.Lys267Asn		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like	p.K267N	ENST00000215637.3	37	c.801	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	g	1.225	-0.625782	0.03610	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.10573	2.86	3.12	-6.25	0.02039	.	2.146880	0.03414	N	0.205240	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	10	0.16896	T	0.51	.	3.4407	0.07462	0.2616:0.3054:0.3464:0.0866	.	267	Q13477	MADCA_HUMAN	N	291;283;275;267	ENSP00000215637:K267N	ENSP00000215637:K267N	K	+	3	2	MADCAM1	452802	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.864000	0.00347	-2.471000	0.00529	-1.635000	0.00777	AAG	MADCAM1	-	NULL		0.721	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	G	NM_130760		501802	1	no_errors	ENST00000215637	ensembl	human	known	70_37	missense	SNP	0.000	C	C	501802	G	C	501802	3	2	116	1	0	0	0	0	1	0	0	0	9174	933	33	1	815	1	MADCAM1	19	501802	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		501802	58627181	207	17426										
MUM1	84939	genome.wustl.edu	37	chr19	1366351	1366351	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaagcaagtgtgctatacatCgaaggacacatgaacccgaa	9	9	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:1366351C>G	ENST00000415183.3	+	7	1361	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	MUM1_ENST00000311401.5_Missense_Mutation_p.I376M|MUM1_ENST00000591806.1_Missense_Mutation_p.I445M|MUM1_ENST00000344663.3_Missense_Mutation_p.I445M			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	444	PWWP.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTATACATCGAAGGACACA	0.478																																																	0													135	109	118					19																	1366351		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1335C>G	19.37:g.1366351C>G	ENSP00000394925:p.Ile445Met		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.I445M	ENST00000415183.3	37	c.1335		19	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347701	0.24426	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.70282	-0.47;-0.47;-0.47	5.04	-9.6	0.00553	.	0.222950	0.45361	D	0.000371	T	0.75064	0.3799	L	0.54323	1.7	0.21861	N	0.999509	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.78239	-0.2281	10	0.87932	D	0	.	16.6053	0.84827	0.0:0.184:0.0:0.816	.	445;445;376;444	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	M	445;376;445	ENSP00000345789:I445M;ENSP00000309135:I376M;ENSP00000394925:I445M	ENSP00000309135:I376M	I	+	3	3	MUM1	1317351	0.031000	0.19500	0.018000	0.16275	0.011000	0.07611	-1.588000	0.02106	-1.754000	0.01321	-0.367000	0.07326	ATC	MUM1	-	NULL		0.478	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1366351	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.103	G	G	1366351	C	G	1366351	3	3	116	1	0	0	0	0	1	0	0	0	10008	874	31	1	1361	1	MUM1	19	1366351	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	864549	1366351	57762632	208	17427										
MYO1F	4542	genome.wustl.edu	37	chr19	8595361	8595361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	accttcctcccgcatctcctCgtacttccggacagccacgt	6	19	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:8595361C>T	ENST00000338257.8	-	20	2407	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	714	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCATCTCCTCGTACTTCCGG	0.637																																																	0													124	134	131					19																	8595361		2059	4183	6242	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2140G>A	19.37:g.8595361C>T	ENSP00000344871:p.Glu714Lys		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.E714K	ENST00000338257.8	37	c.2140	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	10.02	1.234862	0.22626	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.94687	-3.49	5.26	4.21	0.49690	.	0.059913	0.64402	D	0.000004	D	0.90403	0.6996	L	0.53249	1.67	0.58432	D	0.999996	B	0.33238	0.403	B	0.17433	0.018	D	0.87747	0.2589	10	0.15499	T	0.54	.	14.9554	0.71110	0.0:0.8565:0.1435:0.0	.	714	O00160	MYO1F_HUMAN	K	759;714	ENSP00000344871:E714K	ENSP00000304899:E759K	E	-	1	0	MYO1F	8501361	0.579000	0.26725	0.870000	0.34147	0.869000	0.49853	3.289000	0.51747	1.207000	0.43291	0.555000	0.69702	GAG	MYO1F	-	pfscan_IQ_motif_EF-hand-BS		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	C			8595361	-1	no_errors	ENST00000338257	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8595361	C	T	8595361	3	4	116	1	0	0	0	0	1	0	0	0	10096	893	31	1	1192	1	MYO1F	19	8595361	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	7229010	8595361	50533622	209	17428										
PPAN	56342	genome.wustl.edu	37	chr19	10220911	10220911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gggcccagcagagtgcagtgCggctcaccgaggtgaggccc	17	13	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:10220911C>T	ENST00000253107.7	+	8	917	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	P2RY11_ENST00000321826.4_5'Flank|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.R271W|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R271W|SNORD105_ENST00000386910.1_RNA|SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.R218W|PPAN_ENST00000556468.1_Missense_Mutation_p.R271W	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	271	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGTGCAGTGCGGCTCACCGA	0.697																																																	0													21	26	25					19																	10220911		2203	4293	6496	SO:0001583	missense	692312			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.811C>T	19.37:g.10220911C>T	ENSP00000253107:p.Arg271Trp		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.R271W	ENST00000253107.7	37	c.811	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521881	0.44866	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	4.82	2.63	0.31362	Brix domain (3);	.	.	.	.	T	0.53045	0.1772	M	0.86864	2.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.995;0.995	T	0.58177	-0.7682	9	0.87932	D	0	-29.8598	11.6869	0.51492	0.5112:0.4887:0.0:0.0	.	271;271;271	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	W	271;271;271;271;271;218;209	ENSP00000411918:R271W;ENSP00000377385:R271W;ENSP00000253107:R271W;ENSP00000450710:R271W;ENSP00000377382:R218W	ENSP00000253107:R271W	R	+	1	2	PPAN;PPAN-P2RY11	10081911	0.427000	0.25514	0.291000	0.24904	0.082000	0.17680	-0.034000	0.12225	0.384000	0.24942	0.561000	0.74099	CGG	PPAN-P2RY11	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix		0.697	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316658.1	C	NM_020230		10220911	1	no_errors	ENST00000393796	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10220911	C	T	10220911	3	4	116	1	0	0	0	0	1	0	0	0	12312	759	27	2	841	2	PPAN	19	10220911	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1625550	10220911	48908072	210	17429										
AP1M2	10053	genome.wustl.edu	37	chr19	10692201	10692201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tatgacatcaatgaagacctCgttcttcttatacttgatac	5	9	3	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:10692201C>T	ENST00000250244.6	-	5	590	c.508G>A	c.(508-510)Gag>Aag	p.E170K	AP1M2_ENST00000590923.1_Missense_Mutation_p.E170K	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	170	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ATGAAGACCTCGTTCTTCTTA	0.577											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55	60	59					19																	10692201		2189	4291	6480	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.508G>A	19.37:g.10692201C>T	ENSP00000250244:p.Glu170Lys	666	B2RDV5|Q9BSI8	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.E170K	ENST00000250244.6	37	c.508	CCDS45964.1	19	.	.	.	.	.	.	.	.	.	.	c	29.0	4.971377	0.92919	.	.	ENSG00000129354	ENST00000250244	T	0.32515	1.45	4.86	3.83	0.44106	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.77672	-0.2500	10	0.87932	D	0	-39.681	12.1339	0.53959	0.0:0.915:0.0:0.085	.	170;170	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	K	170	ENSP00000250244:E170K	ENSP00000250244:E170K	E	-	1	0	AP1M2	10553201	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	7.606000	0.82863	1.279000	0.44446	0.478000	0.44815	GAG	AP1M2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu		0.577	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP1M2	HGNC	protein_coding	OTTHUMT00000452034.1	C			10692201	-1	no_errors	ENST00000590923	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10692201	C	T	10692201	3	4	116	1	0	0	0	0	1	0	0	0	735	893	31	1	795	1	AP1M2	19	10692201	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	471290	10692201	48436782	211	17430										
DNM2	1785	genome.wustl.edu	37	chr19	10886383	10886383	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ctggtttccctcccagtgttGaacttgaccctcatcgacct	7	15	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:10886383G>A	ENST00000355667.6	+	4	470	c.390G>A	c.(388-390)ttG>ttA	p.L130L	DNM2_ENST00000585892.1_Silent_p.L130L|DNM2_ENST00000408974.4_Silent_p.L130L|DNM2_ENST00000314646.5_Silent_p.L130L|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000389253.4_Silent_p.L130L|DNM2_ENST00000359692.6_Silent_p.L130L	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	130	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCCAGTGTTGAACTTGACCC	0.577			"F, N, Splice, Mis, O"		ETP ALL																																			Rec	yes		19	19p13.2	1785	dynamin 2		L	0													204	209	207					19																	10886383		2203	4300	6503	SO:0001819	synonymous_variant	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.390G>A	19.37:g.10886383G>A			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.L130	ENST00000355667.6	37	c.390	CCDS45968.1	19																																																																																			DNM2	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	G	NM_004945		10886383	1	no_errors	ENST00000314646	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10886383	G	A	10886383	2	1	116	1	0	0	0	0	0	0	0	1	4682	1281	45	1		1	DNM2	19	10886383	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	194182	10886383	48242600	212	17431										
ZNF20	7568	genome.wustl.edu	37	chr19	12246343	12246343	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tctcctgggatttttgtactCatcttcaatgttctgaactt	6	9	5	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:12246343C>T	ENST00000334213.5	-	3	396	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ZNF20_ENST00000485451.1_5'UTR|ZNF20_ENST00000600335.1_Missense_Mutation_p.E55K|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TTTTTGTACTCATCTTCAATG	0.348																																																	0													135	124	128					19																	12246343		1856	4132	5988	SO:0001583	missense	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.172G>A	19.37:g.12246343C>T	ENSP00000335437:p.Glu58Lys		Q8N457|Q9UG41	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E58K	ENST00000334213.5	37	c.172	CCDS45986.1	19	.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062435	0.07273	.	.	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.00745	5.75;5.75	1.18	-2.36	0.06663	Krueppel-associated box (3);	.	.	.	.	T	0.00552	0.0018	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43621	-0.9380	9	0.23891	T	0.37	.	4.2593	0.10733	0.0:0.4406:0.3277:0.2317	.	58	P17024	ZNF20_HUMAN	K	58;58;55	ENSP00000335437:E58K;ENSP00000390115:E55K	ENSP00000292241:E58K	E	-	1	0	ZNF20	12107343	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.911000	0.04050	-1.851000	0.01168	-0.752000	0.03492	GAG	ZNF20	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.348	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF20	HGNC	protein_coding	OTTHUMT00000344101.1	C	NM_021143		12246343	-1	no_errors	ENST00000334213	ensembl	human	known	70_37	missense	SNP	0.000	T	T	12246343	C	T	12246343	3	4	116	1	0	0	0	0	1	0	0	0	17791	835	29	1	1434	1	ZNF20	19	12246343	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1359960	12246343	46882640	213	17432										
IER2	9592	genome.wustl.edu	37	chr19	13264244	13264244	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gagaagccgagtccacggccGagacagcgacccccgacggt	14	15	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:13264244G>C	ENST00000588173.1	+	1	1456	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	IER2_ENST00000292433.3_Missense_Mutation_p.E82Q|CTC-250I14.6_ENST00000592882.1_RNA|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000587885.1_Missense_Mutation_p.E82Q			Q9BTL4	IER2_HUMAN	immediate early response 2	82						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GTCCACGGCCGAGACAGCGAC	0.736											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6	6	6					19																	13264244		2080	4105	6185	SO:0001583	missense	9592			M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.244G>C	19.37:g.13264244G>C	ENSP00000465617:p.Glu82Gln	686	Q03827|Q2TAZ2	Missense_Mutation	SNP	pfam_IER	p.E82Q	ENST00000588173.1	37	c.244	CCDS12295.1	19	.	.	.	.	.	.	.	.	.	.	G	6.097	0.386216	0.11524	.	.	ENSG00000160888	ENST00000292433	T	0.09723	2.95	4.38	2.19	0.27852	.	2.461570	0.02260	N	0.067478	T	0.13970	0.0338	L	0.54323	1.7	0.09310	N	1	B	0.19445	0.036	B	0.24974	0.057	T	0.37820	-0.9689	10	0.21014	T	0.42	-0.1883	7.3688	0.26790	0.102:0.1934:0.7046:0.0	.	82	Q9BTL4	IER2_HUMAN	Q	82	ENSP00000292433:E82Q	ENSP00000292433:E82Q	E	+	1	0	IER2	13125244	0.007000	0.16637	0.004000	0.12327	0.054000	0.15201	0.578000	0.23773	0.309000	0.22966	0.462000	0.41574	GAG	IER2	-	pfam_IER		0.736	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IER2	HGNC	protein_coding	OTTHUMT00000453033.1	G	NM_004907		13264244	1	no_errors	ENST00000292433	ensembl	human	known	70_37	missense	SNP	0.052	C	C	13264244	G	C	13264244	3	2	116	1	0	0	0	0	1	0	0	0	7525	1059	37	1	246	1	IER2	19	13264244	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1017901	13264244	45864739	214	17433										
MAST3	23031	genome.wustl.edu	37	chr19	18257690	18257690	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccctcaccatccctcccgcaGagcggcaacaagatatccct	6	19	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:18257690G>C	ENST00000262811.6	+	25	3075		c.e25-1		AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCTCCCGCAGAGCGGCAACA	0.652																																																	0													27	29	28					19																	18257690		2031	4116	6147	SO:0001630	splice_region_variant	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3076-1G>C	19.37:g.18257690G>C			Q7LDZ8|Q9UPI0	Splice_Site	SNP	-	e25-1	ENST00000262811.6	37	c.3076-1	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	g	13.51	2.259757	0.39995	.	.	ENSG00000099308	ENST00000262811	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2117	0.73230	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST3	18118690	1.000000	0.71417	0.969000	0.41365	0.262000	0.26303	9.726000	0.98782	1.811000	0.52892	0.306000	0.20318	.	MAST3	-	-		0.652	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	G	XM_038150	Intron	18257690	1	no_errors	ENST00000262811	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	18257690	G	C	18257690	5	2	116	1	0	0	0	0	0	0	1	0	9349	956	33	1	3173	1	MAST3	19	18257690	Splice_Site	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	4993446	18257690	40871293	215	17434										
CYP2A7	1549	genome.wustl.edu	37	chr19	41381746	41381746	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agaagagaaagagctccattCtggccaggccttctccgaaa	10	11	2	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:41381746C>T	ENST00000301146.4	-	9	1878	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	446						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCTCCATTCTGGCCAGGCC	0.587																																																	0													17	22	20					19																	41381746		2180	4257	6437	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1337G>A	19.37:g.41381746C>T	ENSP00000301146:p.Arg446Lys		Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.R446K	ENST00000301146.4	37	c.1337	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811920	0.50527	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69040	-0.37;-0.37	2.18	1.01	0.19927	.	0.000000	0.85682	U	0.000000	T	0.57110	0.2031	N	0.21448	0.665	0.19945	N	0.999941	B;B;B	0.30511	0.139;0.282;0.013	P;B;B	0.45829	0.494;0.329;0.194	T	0.54111	-0.8342	10	0.62326	D	0.03	.	4.6532	0.12605	0.2105:0.6503:0.0:0.1393	.	446;395;446	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	K	446;395	ENSP00000301146:R446K;ENSP00000291764:R395K	ENSP00000291764:R395K	R	-	2	0	CYP2A7	46073586	0.003000	0.15002	0.022000	0.16811	0.423000	0.31445	1.921000	0.40035	0.212000	0.20703	0.184000	0.17185	AGA	CYP2A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.587	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	C	NM_030589		41381746	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	0.554	T	T	41381746	C	T	41381746	3	4	116	1	0	0	0	0	1	0	0	0	4168	913	32	1	151	1	CYP2A7	19	41381746	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	23124056	41381746	17747237	216	17435										
SIGLEC6	946	genome.wustl.edu	37	chr19	52033111	52033111	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttggagatgggggtggcgttCagggcggggaagccctggaa	21	6	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:52033111C>G	ENST00000425629.3	-	5	1033	c.879G>C	c.(877-879)ctG>ctC	p.L293L	SIGLEC6_ENST00000359982.4_Silent_p.L304L|SIGLEC6_ENST00000436458.1_Silent_p.L241L|SIGLEC6_ENST00000343300.4_Silent_p.L293L|SIGLEC6_ENST00000391797.3_Silent_p.L282L|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000346477.3_Silent_p.L277L	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	293	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGTGGCGTTCAGGGCGGGGA	0.642																																																	0													59	68	65					19																	52033111		2197	4295	6492	SO:0001819	synonymous_variant	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.879G>C	19.37:g.52033111C>G			A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L293	ENST00000425629.3	37	c.879	CCDS12834.3	19																																																																																			SIGLEC6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.642	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	C	NM_001245		52033111	-1	no_errors	ENST00000425629	ensembl	human	known	70_37	silent	SNP	0.000	G	G	52033111	C	G	52033111	2	3	116	1	0	0	0	0	0	0	0	1	14342	813	29	1		1	SIGLEC6	19	52033111	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	10651365	52033111	7095872	217	17436										
ZNF613	79898	genome.wustl.edu	37	chr19	52443955	52443955	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aatgaaatccacagccaaatCtgtccaggtgagttcagggt	10	9	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:52443955C>T	ENST00000293471.6	+	5	907	c.228C>T	c.(226-228)atC>atT	p.I76I	ZNF613_ENST00000391794.4_Silent_p.I40I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACAGCCAAATCTGTCCAGGTG	0.493																																																	0													92	77	82					19																	52443955		2203	4300	6503	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.228C>T	19.37:g.52443955C>T			Q96SS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I76	ENST00000293471.6	37	c.228	CCDS33089.1	19																																																																																			ZNF613	-	pfscan_Krueppel-associated_box		0.493	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	C	NM_024840		52443955	1	no_errors	ENST00000293471	ensembl	human	known	70_37	silent	SNP	0.000	T	T	52443955	C	T	52443955	2	4	116	1	0	0	0	0	0	0	0	1	18068	903	32	1		1	ZNF613	19	52443955	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	410844	52443955	6685028	218	17437										
ZNF83	55769	genome.wustl.edu	37	chr19	53116855	53116856	+	Missense_Mutation	DNP	CT	CT	TA													0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgactgaagaccttgccacaCtcattacatttgtaaggttt					rs199873537|rs7247359		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:53116855_53116856CT>TA	ENST00000597597.1	-	2	3215_3216	c.962_963AG>TA	c.(961-963)gAG>gTA	p.E321V	ZNF83_ENST00000544146.1_Missense_Mutation_p.E321V|ZNF83_ENST00000541777.2_Missense_Mutation_p.E321V|ZNF83_ENST00000536937.1_Missense_Mutation_p.E321V|ZNF83_ENST00000301096.3_Missense_Mutation_p.E321V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.E321V|ZNF83_ENST00000391789.4_Missense_Mutation_p.E293V|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CCTTGCCACACTCATTACATTT	0.411																																																	0																																										SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.962_963delinsTA	19.37:g.53116855_53116856delinsTA	ENSP00000472619:p.Glu321Val		A8MT75|Q3ZCX0|Q6PI08	Silent|Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E321|p.E321V	ENST00000597597.1	37	c.963|c.962	CCDS12854.1	19																																																																																			ZNF83	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.411	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	C|T	NM_018300		53116855|53116856	-1	no_errors	ENST00000301096	ensembl	human	known	70_37	silent|missense	SNP	0.415|0.418	T|A	TA	53116856	CT	TA	53116855	3	4	116	1	0	0	0	0	1	0	0	0	18213	564	20	4	591	4	ZNF83	19	53116855	Missense_Mutation	DNP	CT	TCGA-EK-A3GJ-01A-21D-A20U-09	672900	53116855	6012128	219	17438	94	2								
ZNF83	55769	genome.wustl.edu	37	chr19	53116865	53116865	+	Missense_Mutation	SNP	T	T	C													0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccttgccacactcattacatTtgtaaggtttctctccagta					rs141749555		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:53116865T>C	ENST00000597597.1	-	2	3206	c.953A>G	c.(952-954)aAa>aGa	p.K318R	ZNF83_ENST00000544146.1_Missense_Mutation_p.K318R|ZNF83_ENST00000541777.2_Missense_Mutation_p.K318R|ZNF83_ENST00000536937.1_Missense_Mutation_p.K318R|ZNF83_ENST00000301096.3_Missense_Mutation_p.K318R|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.K318R|ZNF83_ENST00000391789.4_Missense_Mutation_p.K290R|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCATTACATTTGTAAGGTTT	0.413																																																	0													98	104	102					19																	53116865		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.953A>G	19.37:g.53116865T>C	ENSP00000472619:p.Lys318Arg		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K318R	ENST00000597597.1	37	c.953	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	N	8.722	0.914503	0.17907	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	2.16	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	N	0.16201	0.385	0.09310	N	1	B;D	0.69078	0.017;0.997	B;D	0.81914	0.01;0.995	T	0.10706	-1.0618	9	0.54805	T	0.06	.	3.4318	0.07432	0.0:0.144:0.2323:0.6237	.	290;318	P51522-2;P51522	.;ZNF83_HUMAN	R	318;318;318;290;318;318;290	ENSP00000445993:K318R;ENSP00000301096:K318R;ENSP00000445470:K318R;ENSP00000440713:K318R;ENSP00000439681:K318R;ENSP00000375666:K290R	ENSP00000301096:K318R	K	-	2	0	ZNF83	57808677	0.000000	0.05858	0.706000	0.30403	0.082000	0.17680	-0.250000	0.08830	0.101000	0.17610	-0.540000	0.04249	AAA	ZNF83	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	T	NM_018300		53116865	-1	no_errors	ENST00000301096	ensembl	human	known	70_37	missense	SNP	0.056	C	C	53116865	T	C	53116865	3	2	116	1	0	0	0	0	1	0	0	0	18213	1841	64	5	601	5	ZNF83	19	53116865	Missense_Mutation	SNP	T	TCGA-EK-A3GJ-01A-21D-A20U-09	10	53116865	6012118	220	17439	94	2								
ZNF160	90338	genome.wustl.edu	37	chr19	53571571	53571571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cattttgagtaaagaccttgCcacattcattacatttgtaa	5	8	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:53571571C>T	ENST00000429604.1	-	7	2631	c.2216G>A	c.(2215-2217)gGc>gAc	p.G739D	ZNF160_ENST00000418871.1_Missense_Mutation_p.G739D|ZNF160_ENST00000599056.1_Missense_Mutation_p.G739D|ZNF160_ENST00000601421.1_Missense_Mutation_p.G703D	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	739					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAAGACCTTGCCACATTCATT	0.448																																																	0													135	131	132					19																	53571571		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2216G>A	19.37:g.53571571C>T	ENSP00000406201:p.Gly739Asp		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G739D	ENST00000429604.1	37	c.2216	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620945	0.46736	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.01430	4.9;4.9	2.47	-3.78	0.04333	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.20304	0.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47302	-0.9128	9	0.59425	D	0.04	.	9.2512	0.37555	0.0:0.7868:0.0:0.2132	.	739	Q9HCG1	ZN160_HUMAN	D	739	ENSP00000406201:G739D;ENSP00000409597:G739D	ENSP00000409597:G739D	G	-	2	0	ZNF160	58263383	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.225000	0.17757	-0.896000	0.03915	0.561000	0.74099	GGC	ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	C	NM_033288		53571571	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.928	T	T	53571571	C	T	53571571	3	4	116	1	0	0	0	0	1	0	0	0	17769	739	26	4	244	4	ZNF160	19	53571571	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	454706	53571571	5557412	221	17440										
KIR2DL1	3811	genome.wustl.edu	37	chr19	55284986	55284986	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cttctccatcagtcgcatgaCgcaagacctggcagggacct	10	14	2	2	rs687485	byFrequency	TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:55284986C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.T91M|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.T91M|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGTCGCATGACGCAAGACCTG	0.532																																																	0													280	243	256					19																	55284986		2172	4212	6384	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44003C>T	19.37:g.55284986C>T			O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.T91M	ENST00000538269.1	37	c.272		19	.	.	.	.	.	.	.	.	.	.	C	0.414	-0.911548	0.02434	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.28666	1.6;1.6	1.24	0.116	0.14647	.	.	.	.	.	T	0.11153	0.0272	N	0.02973	-0.45	0.09310	N	1	P;P	0.42993	0.765;0.797	B;B	0.44163	0.322;0.443	T	0.10064	-1.0646	9	0.07813	T	0.8	.	3.815	0.08812	0.0:0.7435:0.0:0.2565	rs687485;rs17173097	91;91	Q6IST4;Q6H2H3	.;.	M	91	ENSP00000336769:T91M;ENSP00000291633:T91M	ENSP00000291633:T91M	T	+	2	0	KIR2DL1	59976798	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.126000	0.03254	0.106000	0.17784	-0.552000	0.04208	ACG	KIR2DL1	-	pfam_Immunoglobulin,smart_Ig_sub		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		C	NM_013289		55284986	1	no_errors	ENST00000336077	ensembl	human	known	70_37	missense	SNP	0.005	T	T	55284986	C	T	55284986	1	4	116	0	1	0	0	0	0	0	0	0	8336	536	19	2		2	KIR2DL1	19	55284986	Intron	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1713415	55284986	3843997	222	17441										
ZNF324B	388569	genome.wustl.edu	37	chr19	58966858	58966858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aaaagaccttcacagagtacCgggtgcctgggaggcagccc	13	12	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr19:58966858C>T	ENST00000336614.4	+	4	654	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R183W|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R173W	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACAGAGTACCGGGTGCCTGG	0.672																																																	0													36	44	41					19																	58966858		2203	4300	6503	SO:0001583	missense	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.547C>T	19.37:g.58966858C>T	ENSP00000337473:p.Arg183Trp		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R183W	ENST00000336614.4	37	c.547	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	C	8.999	0.979617	0.18812	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07567	3.32;3.32;3.18	2.48	-3.12	0.05282	.	1.356660	0.05156	N	0.496848	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	P;P	0.49559	0.925;0.84	B;B	0.36766	0.232;0.058	T	0.29971	-0.9994	10	0.72032	D	0.01	.	3.4508	0.07498	0.1671:0.2246:0.4946:0.1137	.	183;173	Q6AW86;C9JTQ8	Z324B_HUMAN;.	W	183;183;173	ENSP00000337473:R183W;ENSP00000438930:R183W;ENSP00000375578:R173W	ENSP00000337473:R183W	R	+	1	2	ZNF324B	63658670	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-0.557000	0.06126	-1.477000	0.00996	CGG	ZNF324B	-	NULL		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	C	NM_207395		58966858	1	no_errors	ENST00000336614	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58966858	C	T	58966858	3	4	116	1	0	0	0	0	1	0	0	0	17875	643	23	2	557	2	ZNF324B	19	58966858	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	3681872	58966858	162125	223	17442										
ZNF343	79175	genome.wustl.edu	37	chr20	2465219	2465219	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	acataagcccaggaagatctGaagtacatgttgactgagga	11	7	1	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr20:2465219G>A	ENST00000278772.4	-	6	875	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	130	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AGGAAGATCTGAAGTACATGT	0.478																																																	0													88	88	88					20																	2465219		2203	4300	6503	SO:0001587	stop_gained	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.388C>T	20.37:g.2465219G>A	ENSP00000278772:p.Gln130*		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q130*	ENST00000278772.4	37	c.388	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.162393	0.97338	.	.	ENSG00000088876	ENST00000278772;ENST00000445484	.	.	.	3.35	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.41015	D	0.985031	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.7391	0.23424	0.1338:0.0:0.8662:0.0	.	.	.	.	X	130	.	ENSP00000278772:Q130X	Q	-	1	0	ZNF343	2413219	0.297000	0.24408	0.075000	0.20258	0.401000	0.30781	1.584000	0.36589	0.760000	0.33108	0.467000	0.42956	CAG	ZNF343	-	pfscan_Krueppel-associated_box		0.478	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	G	NM_024325		2465219	-1	no_errors	ENST00000278772	ensembl	human	known	70_37	nonsense	SNP	0.454	A	A	2465219	G	A	2465219	4	1	116	1	0	0	0	0	0	1	0	0	17888	1299	45	1	1415	1	ZNF343	20	2465219	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09		2465219	60560301	224	17443										
ZNF133	7692	genome.wustl.edu	37	chr20	18296266	18296266	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttcagcctaaagaagagcctCgccagacaccagaaggcaca	9	13	1	4	rs111530866		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr20:18296266C>T	ENST00000316358.4	+	4	868	c.771C>T	c.(769-771)ctC>ctT	p.L257L	ZNF133_ENST00000377671.3_Silent_p.L256L|ZNF133_ENST00000402618.2_Silent_p.L194L|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Silent_p.L257L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Silent_p.L162L|ZNF133_ENST00000396026.3_Silent_p.L260L|ZNF133_ENST00000538547.1_Silent_p.L162L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	257					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGAAGAGCCTCGCCAGACACC	0.547																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	54	51	52		768,768	-8.3	0.5	20	dbSNP_132	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF133	NM_001083330.1,NM_003434.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	256/654,256/654	18296266	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.771C>T	20.37:g.18296266C>T			A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L260	ENST00000316358.4	37	c.780		20																																																																																			ZNF133	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	C	NM_003434		18296266	1	no_errors	ENST00000396026	ensembl	human	known	70_37	silent	SNP	0.001	T	T	18296266	C	T	18296266	2	4	116	1	0	0	0	0	0	0	0	1	17753	871	31	1		1	ZNF133	20	18296266	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	15831047	18296266	44729254	225	17444										
ACSS1	84532	genome.wustl.edu	37	chr20	25038481	25038481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cagtcccagacggtgtggtaGggggtgtcccacacgagagt	16	10	0	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr20:25038481G>A	ENST00000323482.4	-	1	337	c.258C>T	c.(256-258)ccC>ccT	p.P86P	ACSS1_ENST00000376726.3_Silent_p.P86P|ACSS1_ENST00000432802.2_Silent_p.P86P	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	86					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTGTGGTAGGGGGTGTCCC	0.662																																																	0													43	48	46					20																	25038481		2203	4300	6503	SO:0001819	synonymous_variant	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.258C>T	20.37:g.25038481G>A			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.P86	ENST00000323482.4	37	c.258	CCDS13167.1	20																																																																																			ACSS1	-	pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig		0.662	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	G	NM_032501		25038481	-1	no_errors	ENST00000323482	ensembl	human	known	70_37	silent	SNP	0.807	A	A	25038481	G	A	25038481	2	1	116	1	0	0	0	0	0	0	0	1	188	987	35	4		4	ACSS1	20	25038481	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	6742215	25038481	37987039	226	17445										
PHF20	51230	genome.wustl.edu	37	chr20	34435287	34435287	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tttaggaatttcaaataaatGagcaggtccttgcttgctgg	10	6	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr20:34435287G>C	ENST00000374012.3	+	4	400	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	PHF20_ENST00000439301.1_Missense_Mutation_p.E91Q|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	91	Tudor 2.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCAAATAAATGAGCAGGTCCT	0.358																																																	0													98	91	93					20																	34435287		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.271G>C	20.37:g.34435287G>C	ENSP00000363124:p.Glu91Gln		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.E91Q	ENST00000374012.3	37	c.271	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199439	0.58126	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.45	4.48	0.54585	Tudor domain (1);	0.335476	0.32884	N	0.005525	T	0.38295	0.1035	L	0.46157	1.445	0.48975	D	0.999737	B	0.18013	0.025	B	0.17722	0.019	T	0.13150	-1.0520	10	0.30854	T	0.27	.	15.8416	0.78848	0.0:0.1409:0.8591:0.0	.	91	Q9BVI0	PHF20_HUMAN	Q	91	ENSP00000363124:E91Q;ENSP00000410373:E91Q;ENSP00000341900:E91Q;ENSP00000363112:E91Q	ENSP00000341900:E91Q	E	+	1	0	PHF20	33898701	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	6.195000	0.72088	1.251000	0.43983	0.467000	0.42956	GAG	PHF20	-	smart_Tudor		0.358	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	G	NM_016436		34435287	1	no_errors	ENST00000374012	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34435287	G	C	34435287	3	2	116	1	0	0	0	0	1	0	0	0	11855	1291	45	1	281	1	PHF20	20	34435287	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	9396806	34435287	28590233	227	17446										
STMN3	50861	genome.wustl.edu	37	chr20	62272750	62272750	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cacctcggccgcgtgcagctCctgcaggacagggggcggga	17	14	0	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr20:62272750C>G	ENST00000370053.1	-	5	565	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	STMN3_ENST00000540534.1_Splice_Site_p.E151Q	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	162	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GCGTGCAGCTCCTGCAGGACA	0.746																																																	0													9	9	9					20																	62272750		2143	4197	6340	SO:0001630	splice_region_variant	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.484-1G>C	20.37:g.62272750C>G			B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.E162Q	ENST00000370053.1	37	c.484	CCDS13529.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019056	0.75275	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	4.8	4.8	0.61643	.	0.000000	0.53938	U	0.000059	D	0.83450	0.5257	M	0.83012	2.62	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.86130	0.1574	9	0.66056	D	0.02	-19.6497	18.2166	0.89887	0.0:1.0:0.0:0.0	.	162	Q9NZ72	STMN3_HUMAN	Q	162;151	.	ENSP00000359070:E162Q	E	-	1	0	STMN3	61743194	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	7.560000	0.82277	2.388000	0.81334	0.563000	0.77884	GAG	STMN3	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam		0.746	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN3	HGNC	protein_coding	OTTHUMT00000080163.1	C	NM_015894	Missense_Mutation	62272750	-1	no_errors	ENST00000370053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62272750	C	G	62272750	5	3	116	1	0	0	0	0	0	0	1	0	15340	869	30	1	62	1	STMN3	20	62272750	Splice_Site	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	27837463	62272750	752770	228	17447										
STMN3	50861	genome.wustl.edu	37	chr20	62275132	62275132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cctccgctcctcggctgcctCcagccgcttttgcagctcct	8	20	0	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr20:62275132C>G	ENST00000370053.1	-	3	349	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	STMN3_ENST00000540534.1_Missense_Mutation_p.E79Q	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	90	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCGGCTGCCTCCAGCCGCTTT	0.642																																																	0													39	43	42					20																	62275132		2203	4300	6503	SO:0001583	missense	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.268G>C	20.37:g.62275132C>G	ENSP00000359070:p.Glu90Gln		B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.E90Q	ENST00000370053.1	37	c.268	CCDS13529.1	20	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544764	0.65198	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	U	0.000009	D	0.82829	0.5122	M	0.82056	2.57	0.58432	D	0.999992	D	0.76494	0.999	D	0.81914	0.995	D	0.84263	0.0484	9	0.51188	T	0.08	-21.1161	18.4619	0.90741	0.0:1.0:0.0:0.0	.	90	Q9NZ72	STMN3_HUMAN	Q	90;79	.	ENSP00000359070:E90Q	E	-	1	0	STMN3	61745576	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.629000	0.83207	2.379000	0.81126	0.491000	0.48974	GAG	STMN3	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam		0.642	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN3	HGNC	protein_coding	OTTHUMT00000080163.1	C	NM_015894		62275132	-1	no_errors	ENST00000370053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62275132	C	G	62275132	3	3	116	1	0	0	0	0	1	0	0	0	15340	864	30	1	286	1	STMN3	20	62275132	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2382	62275132	750388	229	17448										
ZNF295	49854	genome.wustl.edu	37	chr21	43412671	43412671	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agtagggcttgagccttcctCaaaattatcttctgacacag	8	10	3	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr21:43412671C>G	ENST00000310826.5	-	3	1717	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E512Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E512Q|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E512Q	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	512					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GAGCCTTCCTCAAAATTATCT	0.448																																																	0													87	87	87					21																	43412671		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1534G>C	21.37:g.43412671C>G	ENSP00000308759:p.Glu512Gln		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E512Q	ENST00000310826.5	37	c.1534	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	6.317	0.426526	0.11987	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08008	3.25;3.14;3.14;3.14	5.77	3.94	0.45596	.	0.591286	0.16410	N	0.215633	T	0.08044	0.0201	L	0.31926	0.97	0.27639	N	0.947782	B;B	0.32693	0.077;0.38	B;B	0.22386	0.039;0.037	T	0.07693	-1.0759	10	0.52906	T	0.07	-13.5421	16.5538	0.84479	0.0:0.7539:0.2461:0.0	.	512;512	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	Q	512	ENSP00000381517:E512Q;ENSP00000308759:E512Q;ENSP00000381512:E512Q;ENSP00000381523:E512Q	ENSP00000308759:E512Q	E	-	1	0	ZNF295	42285740	0.995000	0.38212	0.032000	0.17829	0.082000	0.17680	2.158000	0.42329	0.756000	0.33013	0.655000	0.94253	GAG	ZNF295	-	NULL		0.448	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43412671	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	0.639	G	G	43412671	C	G	43412671	3	3	116	1	0	0	0	0	1	0	0	0	17857	835	29	1	1670	1	ZNF295	21	43412671	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		43412671	4717224	230	17449										
SIK1	150094	genome.wustl.edu	37	chr21	44839823	44839823	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tgggcattccgatactccttGagccgctcaaggaggaggta	13	10	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr21:44839823G>C	ENST00000270162.6	-	9	1167	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	345					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GATACTCCTTGAGCCGCTCAA	0.607																																																	0													45	43	44					21																	44839823		2200	4296	6496	SO:0001819	synonymous_variant	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1035C>G	21.37:g.44839823G>C			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L345	ENST00000270162.6	37	c.1035	CCDS33575.1	21																																																																																			SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2		0.607	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	G	NM_173354		44839823	-1	no_errors	ENST00000270162	ensembl	human	known	70_37	silent	SNP	1.000	C	C	44839823	G	C	44839823	2	2	116	1	0	0	0	0	0	0	0	1	14347	1277	45	1		1	SIK1	21	44839823	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1427152	44839823	3290072	231	17450										
POTEH	23784	genome.wustl.edu	37	chr22	16287382	16287382	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tctcgacggacgtggtacctCggctccatgaaagcgctgtc	12	13	1	1	rs376753969		TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:16287382C>T	ENST00000343518.6	-	1	555	c.504G>A	c.(502-504)ccG>ccA	p.P168P		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	168										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTGGTACCTCGGCTCCATGA	0.592																																																	0								G		0,3986		0,0,1993	58	67	64		504	-2.8	0	22		64	2,7556		1,0,3778	no	coding-synonymous	POTEH	NM_001136213.1		1,0,5771	TT,TC,CC		0.0265,0.0,0.0173		168/546	16287382	2,11542	1993	3779	5772	SO:0001819	synonymous_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.504G>A	22.37:g.16287382C>T			A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P168	ENST00000343518.6	37	c.504	CCDS46658.1	22																																																																																			POTEH	-	NULL		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	C	NM_001136213		16287382	-1	no_errors	ENST00000343518	ensembl	human	known	70_37	silent	SNP	0.000	T	T	16287382	C	T	16287382	2	4	116	1	0	0	0	0	0	0	0	1	12291	871	31	1		1	POTEH	22	16287382	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		16287382	35017184	232	17451										
ZNF280A	129025	genome.wustl.edu	37	chr22	22868860	22868860	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gacaattcacagattttacaGacagcagagggccccatggc	10	11	1	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:22868860G>A	ENST00000302097.3	-	2	1347	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGATTTTACAGACAGCAGAGG	0.507																																																	0													110	100	104					22																	22868860		2203	4300	6503	SO:0001819	synonymous_variant	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1095C>T	22.37:g.22868860G>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V365	ENST00000302097.3	37	c.1095	CCDS13800.1	22																																																																																			ZNF280A	-	smart_Znf_C2H2-like		0.507	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	HGNC	protein_coding	OTTHUMT00000075433.3	G	NM_080740		22868860	-1	no_errors	ENST00000302097	ensembl	human	known	70_37	silent	SNP	0.499	A	A	22868860	G	A	22868860	2	1	116	1	0	0	0	0	0	0	0	1	17844	929	33	1		1	ZNF280A	22	22868860	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	6581478	22868860	28435706	233	17452										
TRIOBP	11078	genome.wustl.edu	37	chr22	38130481	38130481	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cccctcatccttggagtcctGagaagagacctgagggagat	12	11	1	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:38130481G>T	ENST00000406386.3	+	9	4393	c.4138G>T	c.(4138-4140)Gag>Tag	p.E1380*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1380					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTGGAGTCCTGAGAAGAGACC	0.647																																																	0													28	31	30					22																	38130481		1919	4115	6034	SO:0001587	stop_gained	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4138G>T	22.37:g.38130481G>T	ENSP00000384312:p.Glu1380*		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1380*	ENST00000406386.3	37	c.4138	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	41	8.770424	0.98948	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	5.57	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	5.8175	0.18500	0.1699:0.1608:0.6693:0.0	.	.	.	.	X	1380;1341	.	ENSP00000384312:E1380X	E	+	1	0	TRIOBP	36460427	0.010000	0.17322	0.324000	0.25361	0.009000	0.06853	0.034000	0.13776	0.664000	0.31047	0.563000	0.77884	GAG	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130481	1	no_errors	ENST00000406386	ensembl	human	known	70_37	nonsense	SNP	0.048	T	T	38130481	G	T	38130481	4	4	116	1	0	0	0	0	0	1	0	0	16584	1291	45	3	4164	3	TRIOBP	22	38130481	Nonsense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	15261621	38130481	13174085	234	17453			1	76		2	2	13	G		9.612981e-05
TRIOBP	11078	genome.wustl.edu	37	chr22	38130493	38130493	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ggagtcctgagaagagacctGagggagatcggcagctccag	16	9	0	4			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:38130493G>A	ENST00000406386.3	+	9	4405	c.4150G>A	c.(4150-4152)Gag>Aag	p.E1384K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1384					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGAGACCTGAGGGAGATCG	0.647																																																	0													25	28	27					22																	38130493		1906	4104	6010	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4150G>A	22.37:g.38130493G>A	ENSP00000384312:p.Glu1384Lys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1384K	ENST00000406386.3	37	c.4150	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049544	0.55218	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29917	1.55	5.45	4.43	0.53597	.	.	.	.	.	T	0.18718	0.0449	L	0.27053	0.805	0.80722	D	1	P	0.38788	0.647	B	0.28385	0.089	T	0.04065	-1.0980	9	0.52906	T	0.07	.	11.5483	0.50706	0.0843:0.0:0.9157:0.0	.	1384	Q9H2D6	TARA_HUMAN	K	1384;1345	ENSP00000384312:E1384K	ENSP00000384312:E1384K	E	+	1	0	TRIOBP	36460439	0.996000	0.38824	0.595000	0.28798	0.018000	0.09664	3.574000	0.53863	1.290000	0.44636	0.563000	0.77884	GAG	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130493	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.962	A	A	38130493	G	A	38130493	3	1	116	1	0	0	0	0	1	0	0	0	16584	1291	45	1	4176	1	TRIOBP	22	38130493	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	12	38130493	13174073	235	17454			1	76		2	2	13	G		9.612981e-05
SEPT3	55964	genome.wustl.edu	37	chr22	42383277	42383277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ccaggctttggagaccaaatCaacaatgaaaactggtatct	8	9	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:42383277C>G	ENST00000396426.3	+	4	654	c.399C>G	c.(397-399)atC>atG	p.I133M	SEPT3_ENST00000396425.3_Missense_Mutation_p.I133M|SEPT3_ENST00000406029.1_Missense_Mutation_p.I69M|SEPT3_ENST00000291236.11_Missense_Mutation_p.I69M|SEPT3_ENST00000328414.8_Intron	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	133	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GAGACCAAATCAACAATGAAA	0.468																																																	0													86	82	83					22																	42383277		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.399C>G	22.37:g.42383277C>G	ENSP00000379704:p.Ile133Met		B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.I133M	ENST00000396426.3	37	c.399	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646445	0.67358	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.75150	2.29	0.80722	D	1	D;D;D;D	0.69078	0.997;0.996;0.997;0.997	D;D;D;D	0.83275	0.995;0.979;0.991;0.996	T	0.73827	-0.3860	10	0.87932	D	0	.	12.7071	0.57067	0.0:0.9245:0.0:0.0755	.	69;69;133;133	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	M	120;133;69;133;69	ENSP00000391416:I120M;ENSP00000379704:I133M;ENSP00000383956:I69M;ENSP00000379703:I133M;ENSP00000291236:I69M	ENSP00000291236:I69M	I	+	3	3	SEPT3	40713223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.531000	0.36018	2.656000	0.90262	0.650000	0.86243	ATC	SEPT3	-	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin		0.468	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	C	NM_145734		42383277	1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42383277	C	G	42383277	3	3	116	1	0	0	0	0	1	0	0	0	14095	816	29	1	413	1	SEPT3	22	42383277	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	4252784	42383277	8921289	236	17455										
TCF20	6942	genome.wustl.edu	37	chr22	42610495	42610495	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agaacccacattgtgtccttCatactgagatccagcattca	6	12	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:42610495C>T	ENST00000359486.3	-	1	953	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	TCF20_ENST00000335626.4_Missense_Mutation_p.E273K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGTGTCCTTCATACTGAGAT	0.453																																																	0													204	183	190					22																	42610495		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.817G>A	22.37:g.42610495C>T	ENSP00000352463:p.Glu273Lys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E273K	ENST00000359486.3	37	c.817	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296655	0.81025	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.34072	1.38;1.38	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.48750	0.1517	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.50767	-0.8789	10	0.62326	D	0.03	-19.6282	19.2001	0.93708	0.0:1.0:0.0:0.0	.	273;273	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	273	ENSP00000352463:E273K;ENSP00000335561:E273K	ENSP00000335561:E273K	E	-	1	0	TCF20	40940439	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	2.654000	0.46699	2.768000	0.95171	0.655000	0.94253	GAA	TCF20	-	NULL		0.453	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42610495	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42610495	C	T	42610495	3	4	116	1	0	0	0	0	1	0	0	0	15720	835	29	1	5103	1	TCF20	22	42610495	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	227218	42610495	8694071	237	17456										
MPPED1	758	genome.wustl.edu	37	chr22	43821097	43821097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	agtcccacgtgatggccgctCggcggcaccagcacagccgg	14	16	0	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chr22:43821097C>T	ENST00000417669.2	+	2	550	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	MPPED1_ENST00000443721.1_Missense_Mutation_p.R36W|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.R69W|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.R36W			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	36							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GATGGCCGCTCGGCGGCACCA	0.662																																																	0													34	39	37					22																	43821097		2140	4273	6413	SO:0001583	missense	758			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.106C>T	22.37:g.43821097C>T	ENSP00000388137:p.Arg36Trp		A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.R69W	ENST00000417669.2	37	c.205	CCDS46723.1	22	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605041	0.87157	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.58652	0.55;0.32;0.55;0.55;0.74	5.2	5.2	0.72013	.	0.532841	0.19415	N	0.114843	T	0.57562	0.2062	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.59424	0.857;0.857	T	0.61252	-0.7100	10	0.72032	D	0.01	-41.5059	11.6959	0.51542	0.2251:0.7749:0.0:0.0	.	69;36	B7Z2S9;O15442	.;MPPD1_HUMAN	W	36;36;36;14;36;36;69	ENSP00000388137:R36W;ENSP00000335568:R36W;ENSP00000400686:R36W;ENSP00000444532:R36W;ENSP00000438335:R69W	ENSP00000335568:R36W	R	+	1	2	MPPED1	42151041	0.997000	0.39634	0.941000	0.38009	0.956000	0.61745	3.745000	0.55119	2.430000	0.82344	0.655000	0.94253	CGG	MPPED1	-	NULL		0.662	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	HGNC	protein_coding	OTTHUMT00000318938.2	C	NM_001044370		43821097	1	no_errors	ENST00000538182	ensembl	human	known	70_37	missense	SNP	0.989	T	T	43821097	C	T	43821097	3	4	116	1	0	0	0	0	1	0	0	0	9764	875	31	1	108	1	MPPED1	22	43821097	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	1210602	43821097	7483469	238	17457										
MAP3K15	389840	genome.wustl.edu	37	chrX	19418717	19418717	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	caaggtgtctccatcggtctCtccctccagctccaccgtac	7	18	2	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:19418717C>G	ENST00000338883.4	-	14	1908	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	MAP3K15_ENST00000359173.3_Missense_Mutation_p.E72Q|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E469Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	637							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCATCGGTCTCTCCCTCCAGC	0.438																																																	0													391	331	351					X																	19418717		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1909G>C	X.37:g.19418717C>G	ENSP00000345629:p.Glu637Gln		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E637Q	ENST00000338883.4	37	c.1909		X	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334243	0.60853	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73363	-0.71;-0.74;-0.69	5.28	4.42	0.53409	.	0.287438	0.39020	N	0.001497	T	0.80586	0.4651	M	0.71581	2.175	0.40013	D	0.975313	P;D	0.53462	0.952;0.96	P;P	0.53722	0.733;0.611	T	0.82436	-0.0458	10	0.59425	D	0.04	.	13.2733	0.60175	0.0:0.9214:0.0:0.0786	.	112;637	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	637;72;469	ENSP00000345629:E637Q;ENSP00000352093:E72Q;ENSP00000428356:E469Q	ENSP00000345629:E637Q	E	-	1	0	MAP3K15	19328638	1.000000	0.71417	0.014000	0.15608	0.648000	0.38561	5.384000	0.66225	1.013000	0.39391	0.597000	0.82753	GAG	MAP3K15	-	NULL		0.438	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		C	NM_001001671		19418717	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.980	G	G	19418717	C	G	19418717	3	3	116	1	0	0	0	0	1	0	0	0	9272	922	32	1	2096	1	MAP3K15	23	19418717	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09		19418717	135851843	239	17458										
MAGEB16	139604	genome.wustl.edu	37	chrX	35820490	35820490	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gctcctgctgctaaggcagaGagtcctcttgaggttcctca	11	12	2	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:35820490G>C	ENST00000399989.1	+	2	456	c.177G>C	c.(175-177)gaG>gaC	p.E59D	MAGEB16_ENST00000399985.1_Missense_Mutation_p.E59D|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E91D|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E59D|MAGEB16_ENST00000399988.1_Missense_Mutation_p.E59D	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	59										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTAAGGCAGAGAGTCCTCTTG	0.532																																																	0													46	44	45					X																	35820490		1954	4118	6072	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.177G>C	X.37:g.35820490G>C	ENSP00000382871:p.Glu59Asp		A8MU30	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E91D	ENST00000399989.1	37	c.273	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	G	6.921	0.539509	0.13250	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63	3.13	0.233	0.15386	Melanoma associated antigen, MAGE, N-terminal (1);	1.752200	0.03948	U	0.288037	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.21360	0.034	T	0.42361	-0.9456	10	0.49607	T	0.09	.	5.2702	0.15620	0.0:0.3863:0.4731:0.1406	.	59	A2A368	MAGBG_HUMAN	D	59;91;59;59;59	ENSP00000382870:E59D;ENSP00000382874:E91D;ENSP00000382869:E59D;ENSP00000382871:E59D;ENSP00000382867:E59D	ENSP00000382867:E59D	E	+	3	2	MAGEB16	35730411	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.036000	0.13819	-0.054000	0.13266	0.521000	0.50471	GAG	MAGEB16	-	pfam_Melanoma_ass_antigen_N		0.532	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	G			35820490	1	no_errors	ENST00000399992	ensembl	human	known	70_37	missense	SNP	0.000	C	C	35820490	G	C	35820490	3	2	116	1	0	0	0	0	1	0	0	0	9197	933	33	1	179	1	MAGEB16	23	35820490	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	16401773	35820490	119450070	240	17459										
LANCL3	347404	genome.wustl.edu	37	chrX	37431657	37431657	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtgggccgcgcgggttacctGtgtgccgcgctggtgctcaa	17	12	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:37431657G>C	ENST00000378619.3	+	1	753	c.534G>C	c.(532-534)ctG>ctC	p.L178L	LANCL3_ENST00000378621.3_Silent_p.L178L|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	178							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						CGGGTTACCTGTGTGCCGCGC	0.711																																																	0													4	5	5					X																	37431657		2097	4071	6168	SO:0001819	synonymous_variant	347404			AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.534G>C	X.37:g.37431657G>C			A6NHE3	Silent	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk	p.L178	ENST00000378619.3	37	c.534	CCDS55398.1	X																																																																																			LANCL3	-	pfam_LANC-like,prints_LANC-like		0.711	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL3	HGNC	protein_coding	OTTHUMT00000080885.1	G	NM_198511		37431657	1	no_errors	ENST00000378619	ensembl	human	known	70_37	silent	SNP	1.000	C	C	37431657	G	C	37431657	2	2	116	1	0	0	0	0	0	0	0	1	8642	1364	48	4		4	LANCL3	23	37431657	Silent	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	1611167	37431657	117838903	241	17460										
CXorf27	25763	genome.wustl.edu	37	chrX	37850284	37850284	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gattgccttgctgactacatCatggagcgggtaggcttgga	14	8	1	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:37850284C>T	ENST00000341016.3	+	1	215	c.192C>T	c.(190-192)atC>atT	p.I64I	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		64										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTGACTACATCATGGAGCGGG	0.532																																																	0													98	97	97					X																	37850284		2103	4203	6306	SO:0001819	synonymous_variant	25763																														ENST00000341016.3:c.192C>T	X.37:g.37850284C>T			A1A4D3	Silent	SNP	superfamily_Histone-fold	p.I64	ENST00000341016.3	37	c.192	CCDS43929.1	X																																																																																			CXorf27	-	superfamily_Histone-fold		0.532	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf27	HGNC	protein_coding	OTTHUMT00000080888.1	C			37850284	1	no_errors	ENST00000341016	ensembl	human	known	70_37	silent	SNP	0.987	T	T	37850284	C	T	37850284	2	4	116	1	0	0	0	0	0	0	0	1	4110	816	29	1		1	CXorf27	23	37850284	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	418627	37850284	117420276	242	17461										
GSPT2	23708	genome.wustl.edu	37	chrX	51488203	51488203	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	aggtgaaaacctcaaaatcaGactgaagggaattgaagaag	11	5	2	5			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:51488203G>C	ENST00000340438.4	+	1	1723	c.1481G>C	c.(1480-1482)aGa>aCa	p.R494T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	494					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCAAAATCAGACTGAAGGGA	0.408																																																	0													76	66	69					X																	51488203		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1481G>C	X.37:g.51488203G>C	ENSP00000341247:p.Arg494Thr		Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.R494T	ENST00000340438.4	37	c.1481	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058576	0.55325	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.62364	0.03	4.54	4.54	0.55810	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.66560	2.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	T	0.78497	-0.2181	10	0.72032	D	0.01	-0.3575	14.1724	0.65517	0.0:0.0:1.0:0.0	.	494	Q8IYD1	ERF3B_HUMAN	T	494;411	ENSP00000341247:R494T	ENSP00000341247:R494T	R	+	2	0	GSPT2	51504943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.327000	0.79147	2.520000	0.84964	0.590000	0.80494	AGA	GSPT2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.408	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	G			51488203	1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51488203	G	C	51488203	3	2	116	1	0	0	0	0	1	0	0	0	6847	942	33	1	1483	1	GSPT2	23	51488203	Missense_Mutation	SNP	G	TCGA-EK-A3GJ-01A-21D-A20U-09	13637919	51488203	103782357	243	17462										
HUWE1	10075	genome.wustl.edu	37	chrX	53589158	53589158	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	actgccactgctgtcctcttCctgagtgtgctcctcctcat	7	16	2	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:53589158C>A	ENST00000342160.3	-	53	7709	c.7252G>T	c.(7252-7254)Gaa>Taa	p.E2418*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.E2418*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2418	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGTCCTCTTCCTGAGTGTGC	0.502																																																	0													163	100	121					X																	53589158		2203	4300	6503	SO:0001587	stop_gained	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7252G>T	X.37:g.53589158C>A	ENSP00000340648:p.Glu2418*		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2418*	ENST00000342160.3	37	c.7252	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	51|51	17.458541|17.458541	0.99887|0.99887	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71451	.|0.3341	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74734	.|-0.3565	.|3	0.66056|.	D|.	0.02|.	.|.	16.1977|16.1977	0.82042|0.82042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	2418|1451	.|.	ENSP00000262854:E2418X|.	E|G	-|-	1|2	0|0	HUWE1|HUWE1	53605883|53605883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.680000|6.680000	0.74518|0.74518	2.164000|2.164000	0.68074|0.68074	0.513000|0.513000	0.50165|0.50165	GAA|GGA	HUWE1	-	NULL		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53589158	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	53589158	C	A	53589158	4	1	116	1	0	0	0	0	0	1	0	0	7481	864	30	3	5996	3	HUWE1	23	53589158	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2100955	53589158	101681402	244	17463										
FAAH2	158584	genome.wustl.edu	37	chrX	57405214	57405214	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gtcatggcaggacctgggatCaaaaggtatgttcatttatt	11	6	3	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:57405214C>G	ENST00000374900.4	+	6	993	c.873C>G	c.(871-873)atC>atG	p.I291M		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	291						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GACCTGGGATCAAAAGGTATG	0.448										HNSCC(52;0.14)																																							0													106	83	91					X																	57405214		2203	4300	6503	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.873C>G	X.37:g.57405214C>G	ENSP00000364035:p.Ile291Met		Q86VT2|Q96N98	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom	p.I291M	ENST00000374900.4	37	c.873	CCDS14375.1	X	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469817	0.26423	.	.	ENSG00000165591	ENST00000374900	T	0.53423	0.62	2.43	2.43	0.29744	Amidase signature domain (2);	0.277629	0.30101	U	0.010419	T	0.49525	0.1562	L	0.36672	1.1	0.21897	N	0.99948	P	0.46784	0.884	P	0.58077	0.832	T	0.28681	-1.0036	10	0.52906	T	0.07	.	8.1956	0.31394	0.0:1.0:0.0:0.0	.	291	Q6GMR7	FAAH2_HUMAN	M	291	ENSP00000364035:I291M	ENSP00000364035:I291M	I	+	3	3	FAAH2	57421939	0.126000	0.22350	0.982000	0.44146	0.512000	0.34134	0.147000	0.16202	0.941000	0.37499	0.544000	0.68410	ATC	FAAH2	-	pfam_Amidase,superfamily_Amidase_dom		0.448	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	C	NM_174912		57405214	1	no_errors	ENST00000374900	ensembl	human	known	70_37	missense	SNP	0.992	G	G	57405214	C	G	57405214	3	3	116	1	0	0	0	0	1	0	0	0	5369	816	29	1	895	1	FAAH2	23	57405214	Missense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	3816056	57405214	97865346	245	17464										
CYSLTR1	10800	genome.wustl.edu	37	chrX	77528275	77528275	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	ttttctggcaaagaggccttCtttctgggtacataagtcac	9	9	4	1			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:77528275C>T	ENST00000373304.3	-	3	1261	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	323					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGAGGCCTTCTTTCTGGGTA	0.368																																																	0													60	58	58					X																	77528275		2200	4298	6498	SO:0001819	synonymous_variant	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.969G>A	X.37:g.77528275C>T			B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.K323	ENST00000373304.3	37	c.969	CCDS14439.1	X																																																																																			CYSLTR1	-	prints_CLT1_recept		0.368	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	C			77528275	-1	no_errors	ENST00000373304	ensembl	human	known	70_37	silent	SNP	0.973	T	T	77528275	C	T	77528275	2	4	116	1	0	0	0	0	0	0	0	1	4206	912	32	1		1	CYSLTR1	23	77528275	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	20123061	77528275	77742285	246	17465										
USP26	83844	genome.wustl.edu	37	chrX	132161543	132161543	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	gttcatgatgcatgaagattCacattccaatttcttattct	5	8	4	3			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:132161543C>A	ENST00000511190.1	-	6	1175	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	USP26_ENST00000406273.1_Nonsense_Mutation_p.E236*|USP26_ENST00000370832.1_Nonsense_Mutation_p.E236*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	236					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CATGAAGATTCACATTCCAAT	0.368																																					NSCLC(104;342 1621 36940 47097 52632)												0													96	77	83					X																	132161543		2203	4300	6503	SO:0001587	stop_gained	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.706G>T	X.37:g.132161543C>A	ENSP00000423390:p.Glu236*		B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E236*	ENST00000511190.1	37	c.706	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136952	0.77775	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	3.76	0.881	0.19166	.	2.577270	0.01795	N	0.032562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	2.6609	2.8834	0.05654	0.2176:0.5307:0.0:0.2516	.	.	.	.	X	236	.	ENSP00000359869:E236X	E	-	1	0	USP26	131989209	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.329000	0.02677	0.050000	0.15949	0.513000	0.50165	GAA	USP26	-	NULL		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	C	NM_031907		132161543	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	132161543	C	A	132161543	4	1	116	1	0	0	0	0	0	1	0	0	17088	835	29	3	2038	3	USP26	23	132161543	Nonsense_Mutation	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	54633268	132161543	23109017	247	17466										
SLC9A6	10479	genome.wustl.edu	37	chrX	135080293	135080293	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	tttgatccagaagtatttttCaacatattacttcctcctat	3	9	1	2			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:135080293C>T	ENST00000370698.3	+	3	491	c.456C>T	c.(454-456)ttC>ttT	p.F152F	SLC9A6_ENST00000370701.1_Silent_p.F132F|SLC9A6_ENST00000370695.4_Silent_p.F184F	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	152					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AAGTATTTTTCAACATATTAC	0.299																																																	0													59	62	61					X																	135080293		2201	4293	6494	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.456C>T	X.37:g.135080293C>T			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F184	ENST00000370698.3	37	c.552	CCDS14654.1	X																																																																																			SLC9A6	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.299	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	C	NM_006359		135080293	1	no_errors	ENST00000370695	ensembl	human	known	70_37	silent	SNP	1.000	T	T	135080293	C	T	135080293	2	4	116	1	0	0	0	0	0	0	0	1	14748	825	29	1		1	SLC9A6	23	135080293	Silent	SNP	C	TCGA-EK-A3GJ-01A-21D-A20U-09	2918750	135080293	20190267	248	17467										
ARHGEF6	9459	genome.wustl.edu	37	chrX	135763011	135763011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.588709677419355	146	1.23539968615556e-60	4.40817543859649	5.52952876376989	3.71438848920863	0.569482958726762	0.772585272678265	113	cctggttgttgttacaatggAccacaattctctccactgtg	8	11	1	0			TCGA-EK-A3GJ-01A-21D-A20U-09	TCGA-EK-A3GJ-11A-11D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eeec3f16-0e6d-409f-91cb-732488e46db1	f27085a9-4270-498d-bbac-d8314d57bb38	g.chrX:135763011A>G	ENST00000250617.6	-	15	2788	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V374A|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V401A|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V374A	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	528	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTTACAATGGACCACAATTCT	0.433																																																	0													210	157	175					X																	135763011		2203	4300	6503	SO:0001583	missense	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1583T>C	X.37:g.135763011A>G	ENSP00000250617:p.Val528Ala		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.V528A	ENST00000250617.6	37	c.1583	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238367	0.58886	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.9	4.9	0.64082	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056111	0.64402	D	0.000001	T	0.63977	0.2557	M	0.61703	1.905	0.58432	D	0.999999	B;B	0.34200	0.101;0.441	B;P	0.56127	0.396;0.792	T	0.61441	-0.7062	10	0.31617	T	0.26	.	13.5522	0.61738	1.0:0.0:0.0:0.0	.	401;528	B7Z3C7;Q15052	.;ARHG6_HUMAN	A	528;374;374;374;401	ENSP00000250617:V528A;ENSP00000359654:V374A;ENSP00000359656:V374A;ENSP00000439483:V401A	ENSP00000250617:V528A	V	-	2	0	ARHGEF6	135590677	1.000000	0.71417	0.995000	0.50966	0.622000	0.37654	8.058000	0.89460	1.723000	0.51488	0.339000	0.21740	GTC	ARHGEF6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	A	NM_004840		135763011	-1	no_errors	ENST00000250617	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135763011	A	G	135763011	3	3	116	1	0	0	0	0	1	0	0	0	910	275	10	5	779	5	ARHGEF6	23	135763011	Missense_Mutation	SNP	A	TCGA-EK-A3GJ-01A-21D-A20U-09	682718	135763011	19507549	249	17468										
PLCH2	9651	genome.wustl.edu	37	chr1	2435841	2435841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agacagcgtttcctcctcctCcagcatgtcatccagcgaca	7	16	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:2435841C>A	ENST00000419816.2	+	22	3714	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y	PLCH2_ENST00000378486.3_Missense_Mutation_p.S1147Y|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.S1111Y			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1147					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCCTCCTCCTCCAGCATGTCA	0.662																																																	0													39	42	41					1																	2435841		2186	4275	6461	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3440C>A	1.37:g.2435841C>A	ENSP00000389803:p.Ser1147Tyr		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S1147Y	ENST00000419816.2	37	c.3440		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.67|14.67	2.604059|2.604059	0.46423|0.46423	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000378486;ENST00000378488;ENST00000278878	.|T;T	.|0.40225	.|1.26;1.04	4.62|4.62	3.69|3.69	0.42338|0.42338	.|.	.|683.188000	.|0.00508	.|U	.|0.000170	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.994	.|D;P	.|0.83275	.|0.996;0.87	T|T	0.27020|0.27020	-1.0086|-1.0086	5|10	.|0.87932	.|D	.|0	.|.	13.6479|13.6479	0.62292|0.62292	0.0:0.8433:0.1567:0.0|0.0:0.8433:0.1567:0.0	.|.	.|899;1147	.|B9DI82;O75038	.|.;PLCH2_HUMAN	T|Y	442|1147;1111;899	.|ENSP00000367747:S1147Y;ENSP00000367749:S1111Y	.|ENSP00000278878:S899Y	P|S	+|+	1|2	0|0	PLCH2|PLCH2	2425701|2425701	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.147000|0.147000	0.21601|0.21601	4.340000|4.340000	0.59328|0.59328	0.907000|0.907000	0.36646|0.36646	0.462000|0.462000	0.41574|0.41574	CCA|TCC	PLCH2	-	NULL		0.662	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	C	NM_014638		2435841	1	no_errors	ENST00000378486	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2435841	C	A	2435841	3	1	117	1	0	0	0	0	1	0	0	0	12062	855	30	3	3526	3	PLCH2	1	2435841	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		2435841	246814780	1	17469										
TP73	7161	genome.wustl.edu	37	chr1	3598993	3598993	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgagcacctctggagctctCtgtgagtgcgcttggctggc	14	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:3598993C>T	ENST00000378295.4	+	2	219	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	TP73_ENST00000354437.4_Splice_Site_p.L22L|TP73_ENST00000346387.4_Splice_Site_p.L22L|TP73_ENST00000357733.3_Splice_Site_p.L22L|TP73_ENST00000604479.1_Splice_Site_p.L22L|TP73_ENST00000603362.1_Splice_Site_p.L22L|TP73_ENST00000604074.1_Splice_Site_p.L22L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	22	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CTGGAGCTCTCTGTGAGTGCG	0.692																																																	0													21	20	20					1																	3598993		2173	4280	6453	SO:0001630	splice_region_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.65+1C>T	1.37:g.3598993C>T			B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.L22	ENST00000378295.4	37	c.64	CCDS49.1	1																																																																																			TP73	-	NULL		0.692	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427	Silent	3598993	1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	0.986	T	T	3598993	C	T	3598993	5	4	117	1	0	0	0	0	0	0	1	0	16424	927	32	1	66	1	TP73	1	3598993	Splice_Site	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1163152	3598993	245651628	2	17470										
RERE	473	genome.wustl.edu	37	chr1	8716253	8716253	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tacagctccggcgtggccttGaattctcactctctcttgct	8	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:8716253G>C	ENST00000337907.3	-	3	738	c.104C>G	c.(103-105)tCa>tGa	p.S35*	RERE_ENST00000400908.2_Nonsense_Mutation_p.S35*|RERE_ENST00000400907.2_Nonsense_Mutation_p.S35*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	35					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGTGGCCTTGAATTCTCACT	0.502																																																	0													174	176	175					1																	8716253		2203	4298	6501	SO:0001587	stop_gained	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.104C>G	1.37:g.8716253G>C	ENSP00000338629:p.Ser35*		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.S35*	ENST00000337907.3	37	c.104	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.636714	0.98895	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5477	18.2804	0.90096	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000338629:S35X	S	-	2	0	RERE	8638840	1.000000	0.71417	0.857000	0.33713	0.966000	0.64601	7.536000	0.82023	2.553000	0.86117	0.557000	0.71058	TCA	RERE	-	NULL		0.502	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	G			8716253	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	8716253	G	C	8716253	4	2	117	1	0	0	0	0	0	1	0	0	13261	1294	45	1	4684	1	RERE	1	8716253	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5117260	8716253	240534368	3	17471										
CLSTN1	22883	genome.wustl.edu	37	chr1	9791276	9791276	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actcctacctccatggggttGacggtgatggtcagggcaga	14	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:9791276G>A	ENST00000377298.4	-	18	3528	c.2736C>T	c.(2734-2736)gtC>gtT	p.V912V	CLSTN1_ENST00000361311.4_Silent_p.V902V|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Silent_p.V893V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	912					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCATGGGGTTGACGGTGATGG	0.652																																																	0													122	105	111					1																	9791276		2203	4300	6503	SO:0001819	synonymous_variant	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2736C>T	1.37:g.9791276G>A			A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V912	ENST00000377298.4	37	c.2736	CCDS30580.1	1																																																																																			CLSTN1	-	NULL		0.652	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	G			9791276	-1	no_errors	ENST00000377298	ensembl	human	known	70_37	silent	SNP	0.989	A	A	9791276	G	A	9791276	2	1	117	1	0	0	0	0	0	0	0	1	3566	1277	45	1		1	CLSTN1	1	9791276	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1075023	9791276	239459345	4	17472										
UBE4B	10277	genome.wustl.edu	37	chr1	10195164	10195164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacgtatatttttcacccaaGatgtcggattactcttccca	5	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:10195164G>C	ENST00000253251.8	+	15	2596	c.1757G>C	c.(1756-1758)aGa>aCa	p.R586T	UBE4B_ENST00000343090.6_Missense_Mutation_p.R715T|UBE4B_ENST00000377157.3_Missense_Mutation_p.R470T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTTCACCCAAGATGTCGGATT	0.423																																																	0													131	116	121					1																	10195164		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1757G>C	1.37:g.10195164G>C	ENSP00000253251:p.Arg586Thr			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R715T	ENST00000253251.8	37	c.2144	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763462	0.31228	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.39229	1.09;1.09;1.09	6.04	4.14	0.48551	Ubiquitin conjugation factor E4, core (1);	0.168749	0.64402	D	0.000007	T	0.22166	0.0534	N	0.11427	0.14	0.36005	D	0.837641	B;B;B	0.20671	0.018;0.047;0.015	B;B;B	0.22601	0.016;0.04;0.009	T	0.15350	-1.0440	10	0.17832	T	0.49	-12.1883	9.5567	0.39343	0.2186:0.0:0.7814:0.0	.	586;715;586	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	586;470;715	ENSP00000253251:R586T;ENSP00000366362:R470T;ENSP00000343001:R715T	ENSP00000253251:R586T	R	+	2	0	UBE4B	10117751	0.999000	0.42202	0.759000	0.31340	0.362000	0.29581	2.725000	0.47294	0.847000	0.35167	0.637000	0.83480	AGA	UBE4B	-	pfam_Ub_conjug_fac_E4_core		0.423	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	G	NM_006048		10195164	1	no_errors	ENST00000343090	ensembl	human	known	70_37	missense	SNP	0.952	C	C	10195164	G	C	10195164	3	2	117	1	0	0	0	0	1	0	0	0	16914	942	33	1	2206	1	UBE4B	1	10195164	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	403888	10195164	239055457	5	17473										
MTOR	2475	genome.wustl.edu	37	chr1	11174420	11174420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggtcatagacaaaggcttCcagcacggccatgacactgt	12	11	1	2	rs587777900		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:11174420C>T	ENST00000361445.4	-	53	7331	c.7255G>A	c.(7255-7257)Gaa>Aaa	p.E2419K	MTOR_ENST00000376838.1_Missense_Mutation_p.E624K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2419	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACAAAGGCTTCCAGCACGGCC	0.532																																																	0													156	129	138					1																	11174420		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7255G>A	1.37:g.11174420C>T	ENSP00000354558:p.Glu2419Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2419K	ENST00000361445.4	37	c.7255	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.796473	0.96952	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	D;D;D	0.83163	-1.69;-1.69;-1.69	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95244	0.8354	10	0.87932	D	0	-22.4298	19.2499	0.93919	0.0:1.0:0.0:0.0	.	2419	P42345	MTOR_HUMAN	K	2419;624;75	ENSP00000354558:E2419K;ENSP00000366034:E624K;ENSP00000398745:E75K	ENSP00000354558:E2419K	E	-	1	0	MTOR	11097007	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	GAA	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11174420	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11174420	C	T	11174420	3	4	117	1	0	0	0	0	1	0	0	0	9977	864	30	1	418	1	MTOR	1	11174420	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	979256	11174420	238076201	6	17474										
KIAA2013	90231	genome.wustl.edu	37	chr1	11983500	11983500	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagagcgtcaggttcacggtGaggccagacggcgtgtgggt	18	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:11983500G>A	ENST00000376572.3	-	2	1265	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	KIAA2013_ENST00000376576.3_Silent_p.L360L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	360						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCACGGTGAGGCCAGACG	0.597																																																	0													129	116	120					1																	11983500		2203	4300	6503	SO:0001819	synonymous_variant	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1080C>T	1.37:g.11983500G>A			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	pfam_DUF2152	p.L360	ENST00000376572.3	37	c.1080	CCDS141.1	1																																																																																			KIAA2013	-	pfam_DUF2152		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	G	NM_138346		11983500	-1	no_errors	ENST00000376576	ensembl	human	known	70_37	silent	SNP	0.999	A	A	11983500	G	A	11983500	2	1	117	1	0	0	0	0	0	0	0	1	8287	1277	45	1		1	KIAA2013	1	11983500	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	809080	11983500	237267121	7	17475										
MIIP	60672	genome.wustl.edu	37	chr1	12091427	12091427	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccgctgaggcccagcaccaGaagctgtccggcaccagcag	12	16	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12091427G>C	ENST00000235332.4	+	9	1216	c.1047G>C	c.(1045-1047)caG>caC	p.Q349H	MIIP_ENST00000436478.2_Missense_Mutation_p.R317T|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	349										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCCAGCACCAGAAGCTGTCCG	0.632																																																	0													54	57	56					1																	12091427		2203	4300	6503	SO:0001583	missense	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"invasion inhibitory protein 45"	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.1047G>C	1.37:g.12091427G>C	ENSP00000235332:p.Gln349His		C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	NULL	p.Q349H	ENST00000235332.4	37	c.1047	CCDS143.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.80|14.80	2.643848|2.643848	0.47258|0.47258	.|.	.|.	ENSG00000116691|ENSG00000116691	ENST00000235332|ENST00000436478	T|T	0.12465|0.21543	2.68|2.0	4.07|4.07	3.14|3.14	0.36123|0.36123	.|.	1.761840|.	0.03004|.	N|.	0.148550|.	T|T	0.21881|0.21881	0.0527|0.0527	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	D|.	0.61080|.	0.989|.	P|.	0.58172|.	0.834|.	T|T	0.14254|0.14254	-1.0479|-1.0479	10|7	0.38643|0.25106	T|T	0.18|0.35	-4.4749|-4.4749	9.8001|9.8001	0.40759|0.40759	0.0:0.2095:0.7905:0.0|0.0:0.2095:0.7905:0.0	.|.	349|.	Q5JXC2|.	MIIP_HUMAN|.	H|T	349|317	ENSP00000235332:Q349H|ENSP00000392417:R317T	ENSP00000235332:Q349H|ENSP00000392417:R317T	Q|R	+|+	3|2	2|0	MIIP|MIIP	12014014|12014014	0.002000|0.002000	0.14202|0.14202	0.007000|0.007000	0.13788|0.13788	0.029000|0.029000	0.11900|0.11900	0.918000|0.918000	0.28678|0.28678	1.272000|1.272000	0.44329|0.44329	0.591000|0.591000	0.81541|0.81541	CAG|AGA	MIIP	-	NULL		0.632	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIIP	HGNC	protein_coding	OTTHUMT00000006941.1	G	NM_021933		12091427	1	no_errors	ENST00000235332	ensembl	human	known	70_37	missense	SNP	0.020	C	C	12091427	G	C	12091427	3	2	117	1	0	0	0	0	1	0	0	0	9608	933	33	1	1077	1	MIIP	1	12091427	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	107927	12091427	237159194	8	17476										
TNFRSF1B	7133	genome.wustl.edu	37	chr1	12254073	12254073	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggagtggtgaactgtgtcatCatgacccaggtgaaaagtaa	13	6	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12254073C>T	ENST00000376259.3	+	7	938	c.849C>T	c.(847-849)atC>atT	p.I283I	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	283					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ACTGTGTCATCATGACCCAGG	0.478																																																	0													206	193	198					1																	12254073		2203	4300	6503	SO:0001819	synonymous_variant	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.849C>T	1.37:g.12254073C>T			B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.I283	ENST00000376259.3	37	c.849	CCDS145.1	1																																																																																			TNFRSF1B	-	NULL		0.478	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	C	NM_001066		12254073	1	no_errors	ENST00000376259	ensembl	human	known	70_37	silent	SNP	0.069	T	T	12254073	C	T	12254073	2	4	117	1	0	0	0	0	0	0	0	1	16324	816	29	1		1	TNFRSF1B	1	12254073	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	162646	12254073	236996548	9	17477										
VPS13D	55187	genome.wustl.edu	37	chr1	12304470	12304470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacgtaagaaagcactacttCaagccctggaggagaaatgg	11	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12304470C>A	ENST00000358136.3	+	4	473	c.343C>A	c.(343-345)Caa>Aaa	p.Q115K	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q115K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCACTACTTCAAGCCCTGGA	0.458																																																	0													121	112	115					1																	12304470		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.343C>A	1.37:g.12304470C>A	ENSP00000350854:p.Gln115Lys			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q115K	ENST00000358136.3	37	c.343	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142420	0.37825	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	D;D	0.81659	-1.52;-1.52	5.87	4.96	0.65561	.	0.294724	0.35805	N	0.002965	T	0.51312	0.1667	N	0.01352	-0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.52609	-0.8553	10	0.07644	T	0.81	.	11.2393	0.48960	0.1282:0.6019:0.2699:0.0	.	115;115	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	115	ENSP00000348666:Q115K;ENSP00000350854:Q115K	ENSP00000348666:Q115K	Q	+	1	0	VPS13D	12227057	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	2.087000	0.41653	1.612000	0.50221	0.655000	0.94253	CAA	VPS13D	-	NULL		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12304470	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.936	A	A	12304470	C	A	12304470	3	1	117	1	0	0	0	0	1	0	0	0	17223	827	29	3	353	3	VPS13D	1	12304470	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	50397	12304470	236946151	10	17478										
VPS13D	55187	genome.wustl.edu	37	chr1	12337696	12337696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaactccaaggaagactcggGaaccctttatcttagaggaa	9	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12337696G>A	ENST00000358136.3	+	19	4181	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1351K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGACTCGGGAACCCTTTAT	0.433																																																	0													73	75	74					1																	12337696		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4051G>A	1.37:g.12337696G>A	ENSP00000350854:p.Glu1351Lys			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E1351K	ENST00000358136.3	37	c.4051	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181345	0.21787	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	.	0.360607	0.29737	N	0.011329	T	0.29524	0.0736	N	0.08118	0	0.80722	D	1	B;B	0.15141	0.001;0.012	B;B	0.15870	0.001;0.014	T	0.22138	-1.0225	10	0.06757	T	0.87	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1351;1351	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	1351	ENSP00000348666:E1351K;ENSP00000350854:E1351K	ENSP00000348666:E1351K	E	+	1	0	VPS13D	12260283	1.000000	0.71417	0.933000	0.37362	0.931000	0.56810	4.584000	0.60971	2.793000	0.96121	0.655000	0.94253	GAA	VPS13D	-	NULL		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12337696	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12337696	G	A	12337696	3	1	117	1	0	0	0	0	1	0	0	0	17223	1175	41	1	4121	1	VPS13D	1	12337696	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	33226	12337696	236912925	11	17479										
VPS13D	55187	genome.wustl.edu	37	chr1	12414078	12414078	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttatccagattatatgccctCaaacatattttctgacagtg	5	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12414078C>A	ENST00000358136.3	+	47	9609	c.9479C>A	c.(9478-9480)tCa>tAa	p.S3160*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.S3135*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATATGCCCTCAAACATATTT	0.358																																																	0													88	82	84					1																	12414078		2203	4300	6503	SO:0001587	stop_gained	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9479C>A	1.37:g.12414078C>A	ENSP00000350854:p.Ser3160*			Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S3160*	ENST00000358136.3	37	c.9479	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	18.758060|18.758060	0.99910|0.99910	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.058828	.|0.64402	.|D	.|0.000002	T|.	0.77075|.	0.4077|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73575|.	-0.3939|.	4|.	.|.	.|.	.|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	1982|3135;3160	.|.	.|.	Q|S	+|+	1|2	0|0	VPS13D|VPS13D	12336665|12336665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAA|TCA	VPS13D	-	NULL		0.358	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12414078	1	no_errors	ENST00000358136	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	12414078	C	A	12414078	4	1	117	1	0	0	0	0	0	1	0	0	17223	838	29	3	9661	3	VPS13D	1	12414078	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	76382	12414078	236836543	12	17480										
PRAMEF11	440560	genome.wustl.edu	37	chr1	12885298	12885298	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggcactgggagagatgcttCaagtctgattccaaaagcac	12	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12885298C>T	ENST00000535591.1	-	4	1008	c.813G>A	c.(811-813)ttG>ttA	p.L271L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	271					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGAGATGCTTCAAGTCTGATT	0.473																																																	0													57	35	42					1																	12885298		575	1134	1709	SO:0001819	synonymous_variant	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.813G>A	1.37:g.12885298C>T				Silent	SNP	NULL	p.L271	ENST00000535591.1	37	c.813	CCDS53268.1	1																																																																																			PRAMEF11	-	NULL		0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		C	XM_496341		12885298	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	silent	SNP	0.001	T	T	12885298	C	T	12885298	2	4	117	1	0	0	0	0	0	0	0	1	12454	825	29	1		1	PRAMEF11	1	12885298	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	471220	12885298	236365323	13	17481										
SPEN	23013	genome.wustl.edu	37	chr1	16257569	16257569	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaggttgagaaacaggaaGatacagagaatcatcccaag	11	6	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16257569G>T	ENST00000375759.3	+	11	5038	c.4834G>T	c.(4834-4836)Gat>Tat	p.D1612Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1612					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAACAGGAAGATACAGAGAA	0.443																																																	0													85	94	91					1																	16257569		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4834G>T	1.37:g.16257569G>T	ENSP00000364912:p.Asp1612Tyr		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1612Y	ENST00000375759.3	37	c.4834	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445309	0.25987	.	.	ENSG00000065526	ENST00000375759	T	0.10192	2.9	4.76	3.84	0.44239	.	.	.	.	.	T	0.09686	0.0238	L	0.27053	0.805	0.09310	N	0.999999	P	0.43169	0.8	B	0.41723	0.365	T	0.15925	-1.0420	9	0.66056	D	0.02	-3.2469	10.2158	0.43168	0.1606:0.0:0.8394:0.0	.	1612	Q96T58	MINT_HUMAN	Y	1612	ENSP00000364912:D1612Y	ENSP00000364912:D1612Y	D	+	1	0	SPEN	16130156	0.935000	0.31712	0.135000	0.22099	0.562000	0.35680	3.009000	0.49552	1.204000	0.43247	0.467000	0.42956	GAT	SPEN	-	NULL		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257569	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.190	T	T	16257569	G	T	16257569	3	4	117	1	0	0	0	0	1	0	0	0	15068	942	33	3	4876	3	SPEN	1	16257569	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3372271	16257569	232993052	14	17482										
SPEN	23013	genome.wustl.edu	37	chr1	16257893	16257893	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccatgatgcctgcgggtgttGaggaaggttcatcaggtgac	15	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16257893G>C	ENST00000375759.3	+	11	5362	c.5158G>C	c.(5158-5160)Gag>Cag	p.E1720Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1720					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCGGGTGTTGAGGAAGGTTC	0.587																																																	0													136	146	142					1																	16257893		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5158G>C	1.37:g.16257893G>C	ENSP00000364912:p.Glu1720Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1720Q	ENST00000375759.3	37	c.5158	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795924	0.16327	.	.	ENSG00000065526	ENST00000375759	T	0.09630	2.96	5.16	3.0	0.34707	.	.	.	.	.	T	0.07503	0.0189	N	0.12746	0.255	0.09310	N	0.999997	B	0.12630	0.006	B	0.06405	0.002	T	0.30966	-0.9960	9	0.21540	T	0.41	-5.0853	16.8115	0.85722	0.0:0.3227:0.6773:0.0	.	1720	Q96T58	MINT_HUMAN	Q	1720	ENSP00000364912:E1720Q	ENSP00000364912:E1720Q	E	+	1	0	SPEN	16130480	0.998000	0.40836	0.027000	0.17364	0.030000	0.12068	2.323000	0.43823	1.010000	0.39314	0.467000	0.42956	GAG	SPEN	-	NULL		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257893	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.070	C	C	16257893	G	C	16257893	3	2	117	1	0	0	0	0	1	0	0	0	15068	1291	45	1	5200	1	SPEN	1	16257893	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	324	16257893	232992728	15	17483										
CLCNKA	1187	genome.wustl.edu	37	chr1	16350317	16350317	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcctggagtggctaaagcaGaaggtgttccgcctgggaga	17	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16350317G>A	ENST00000331433.4	+	3	142	c.123G>A	c.(121-123)caG>caA	p.Q41Q	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.Q41Q|CLCNKA_ENST00000375692.1_Silent_p.Q41Q|CLCNKA_ENST00000439316.2_Silent_p.Q41Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	41					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCTAAAGCAGAAGGTGTTCC	0.607																																																	0													184	128	147					1																	16350317		2203	4300	6503	SO:0001819	synonymous_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.123G>A	1.37:g.16350317G>A			B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.Q41	ENST00000331433.4	37	c.123	CCDS167.1	1																																																																																			CLCNKA	-	superfamily_Cl-channel_core		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16350317	1	no_errors	ENST00000331433	ensembl	human	known	70_37	silent	SNP	0.948	A	A	16350317	G	A	16350317	2	1	117	1	0	0	0	0	0	0	0	1	3474	933	33	1		1	CLCNKA	1	16350317	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	92424	16350317	232900304	16	17484										
FBXO42	54455	genome.wustl.edu	37	chr1	16577630	16577630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctttggaggacatcgctttGatggcttccagactccgacg	11	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16577630G>C	ENST00000375592.3	-	10	1905	c.1689C>G	c.(1687-1689)atC>atG	p.I563M		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	563								p.I563M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACATCGCTTTGATGGCTTCCA	0.612																																																	1	Substitution - Missense(1)	lung(1)											47	43	44					1																	16577630		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1689C>G	1.37:g.16577630G>C	ENSP00000364742:p.Ile563Met		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I563M	ENST00000375592.3	37	c.1689	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172492	0.38315	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.52983	3.76;0.64;0.64	5.52	4.6	0.57074	.	0.237591	0.42548	D	0.000698	T	0.28366	0.0701	N	0.08118	0	0.44469	D	0.997401	B	0.22909	0.077	B	0.23018	0.043	T	0.06789	-1.0807	10	0.27785	T	0.31	-10.7194	13.6178	0.62120	0.0746:0.0:0.9254:0.0	.	563	Q6P3S6	FBX42_HUMAN	M	563;281;281	ENSP00000364742:I563M;ENSP00000415663:I281M;ENSP00000412416:I281M	ENSP00000364742:I563M	I	-	3	3	FBXO42	16450217	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.836000	0.55813	1.467000	0.48044	0.655000	0.94253	ATC	FBXO42	-	NULL		0.612	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	G			16577630	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16577630	G	C	16577630	3	2	117	1	0	0	0	0	1	0	0	0	5769	1280	45	1	468	1	FBXO42	1	16577630	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	227313	16577630	232672991	17	17485										
MUL1	79594	genome.wustl.edu	37	chr1	20827823	20827823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtccaggggcttcagcactCgcacagccacatccacgcca	9	17	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:20827823C>T	ENST00000264198.3	-	4	555	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	140					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTTCAGCACTCGCACAGCCAC	0.527																																																	0													76	82	80					1																	20827823		2203	4300	6503	SO:0001583	missense	79594			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.419G>A	1.37:g.20827823C>T	ENSP00000264198:p.Arg140Gln		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_GIDE,pfscan_Znf_RING	p.R140Q	ENST00000264198.3	37	c.419	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.321231	0.95682	.	.	ENSG00000090432	ENST00000264198	T	0.23147	1.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16276	-1.0408	10	0.30078	T	0.28	-14.1837	18.3732	0.90420	0.0:1.0:0.0:0.0	.	140	Q969V5	MUL1_HUMAN	Q	140	ENSP00000264198:R140Q	ENSP00000264198:R140Q	R	-	2	0	MUL1	20700410	1.000000	0.71417	0.980000	0.43619	0.865000	0.49528	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA	MUL1	-	pfam_GIDE		0.527	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	C	NM_024544		20827823	-1	no_errors	ENST00000264198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20827823	C	T	20827823	3	4	117	1	0	0	0	0	1	0	0	0	10007	884	31	1	643	1	MUL1	1	20827823	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4250193	20827823	228422798	18	17486										
EIF4G3	8672	genome.wustl.edu	37	chr1	21175959	21175959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgatagatttcgacttcctCtccagttcctcttctgataa	5	11	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:21175959C>G	ENST00000264211.8	-	23	3863	c.3669G>C	c.(3667-3669)gaG>gaC	p.E1223D	EIF4G3_ENST00000374935.3_Missense_Mutation_p.E943D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1223D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E827D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E713D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E1229D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1229D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1223	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGACTTCCTCTCCAGTTCCT	0.338																																																	0													92	86	88					1																	21175959		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3669G>C	1.37:g.21175959C>G	ENSP00000264211:p.Glu1223Asp		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E1229D	ENST00000264211.8	37	c.3687	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485427	0.84854	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.87	3.85	0.44370	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.120083	0.64402	D	0.000009	T	0.46698	0.1406	L	0.43554	1.36	0.80722	D	1	D;P;P;P;D	0.67145	0.996;0.895;0.924;0.651;0.981	D;P;P;B;P	0.76071	0.987;0.721;0.612;0.344;0.747	T	0.38373	-0.9664	10	0.52906	T	0.07	-7.769	14.3302	0.66550	0.0:0.9116:0.0:0.0884	.	1418;943;827;1229;1223	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	1223;1419;1223;943;713;1229;827	ENSP00000264211:E1223D;ENSP00000383274:E1223D;ENSP00000364071:E943D;ENSP00000442010:E713D;ENSP00000364073:E1229D;ENSP00000444693:E827D	ENSP00000264211:E1223D	E	-	3	2	EIF4G3	21048546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.820000	0.39032	0.750000	0.32877	0.655000	0.94253	GAG	EIF4G3	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.338	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760		21175959	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21175959	C	G	21175959	3	3	117	1	0	0	0	0	1	0	0	0	5050	912	32	1	1124	1	EIF4G3	1	21175959	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	348136	21175959	228074662	19	17487										
RHCE	6006	genome.wustl.edu	37	chr1	25715555	25715555	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagaagggatcaggtgacacGaggtacccacagccacgcct	13	12	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:25715555G>T	ENST00000294413.7	-	6	909	c.851C>A	c.(850-852)tCg>tAg	p.S284*	RHCE_ENST00000374352.2_Nonsense_Mutation_p.S268*|RHCE_ENST00000243186.6_Nonsense_Mutation_p.S284*|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Nonsense_Mutation_p.S179*|RHCE_ENST00000349438.4_Nonsense_Mutation_p.S284*|RHCE_ENST00000455194.1_Nonsense_Mutation_p.S179*|RHCE_ENST00000413854.1_Nonsense_Mutation_p.S284*|RHCE_ENST00000349320.3_Nonsense_Mutation_p.S268*	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	284						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGACACGAGGTACCCAC	0.567																																																	0													83	64	70					1																	25715555		2203	4297	6500	SO:0001587	stop_gained	6006			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"CD molecules", "Blood group antigens"	10008	protein-coding gene	gene with protein product		111700	"Rhesus blood group, CcEe antigens"	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.851C>A	1.37:g.25715555G>T	ENSP00000294413:p.Ser284*		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Nonsense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.S284*	ENST00000294413.7	37	c.851	CCDS30635.1	1	.	.	.	.	.	.	.	.	.	.	g	12.30	1.896694	0.33535	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000374352;ENST00000243186;ENST00000340849;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	.	.	.	4.91	3.94	0.45596	.	0.638871	0.16474	N	0.212821	.	.	.	.	.	.	0.20403	N	0.999902	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3469	11.7485	0.51835	0.0:0.1785:0.8215:0.0	.	.	.	.	X	284;226;179;268;284;179;268;284;284;284	.	ENSP00000243186:S284X	S	-	2	0	RHCE	25588142	0.471000	0.25862	0.004000	0.12327	0.006000	0.05464	4.502000	0.60400	2.432000	0.82394	0.591000	0.81541	TCG	RHCE	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.567	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020312.2	G	NM_020485		25715555	-1	no_errors	ENST00000294413	ensembl	human	known	70_37	nonsense	SNP	0.002	T	T	25715555	G	T	25715555	4	4	117	1	0	0	0	0	0	1	0	0	13355	1059	37	3	422	3	RHCE	1	25715555	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4539596	25715555	223535066	20	17488										
C1orf172	126695	genome.wustl.edu	37	chr1	27276594	27276594	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggagcaagggtgcccccgacGagtctgtgtcggtgccctgg	17	12	1	0	rs374830839		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:27276594G>C	ENST00000320567.5	-	4	1251	c.1163C>G	c.(1162-1164)tCg>tGg	p.S388W		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		388					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCCCGACGAGTCTGTGTC	0.602																																																	0													96	77	83					1																	27276594		2203	4300	6503	SO:0001583	missense	126695																														ENST00000320567.5:c.1163C>G	1.37:g.27276594G>C	ENSP00000319179:p.Ser388Trp		Q5QP32|Q8N0S7	Missense_Mutation	SNP	NULL	p.S388W	ENST00000320567.5	37	c.1163	CCDS293.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091045	0.76756	.	.	ENSG00000175707	ENST00000320567	T	0.34667	1.35	4.59	4.59	0.56863	.	0.172684	0.37761	N	0.001957	T	0.47395	0.1443	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.52019	-0.8631	10	0.87932	D	0	.	15.7543	0.78013	0.0:0.0:1.0:0.0	.	388	Q8NAX2	CA172_HUMAN	W	388	ENSP00000319179:S388W	ENSP00000319179:S388W	S	-	2	0	C1orf172	27149181	1.000000	0.71417	0.922000	0.36590	0.947000	0.59692	6.454000	0.73493	2.374000	0.81015	0.655000	0.94253	TCG	C1orf172	-	NULL		0.602	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	HGNC	protein_coding	OTTHUMT00000012340.1	G			27276594	-1	no_errors	ENST00000320567	ensembl	human	known	70_37	missense	SNP	0.993	C	C	27276594	G	C	27276594	3	2	117	1	0	0	0	0	1	0	0	0	2018	1059	37	1	37	1	C1orf172	1	27276594	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1561039	27276594	221974027	21	17489										
STX12	23673	genome.wustl.edu	37	chr1	28148834	28148834	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atctggctagtttataaaacGaagtgattgcctccgatcgt	9	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:28148834G>A	ENST00000373943.4	+	9	950	c.825G>A	c.(823-825)acG>acA	p.T275T	RNU6-1245P_ENST00000411130.1_RNA|RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATAAAACGAAGTGATTGC	0.418																																					Ovarian(5;5 342 2097 9488 34083)												0													143	136	138					1																	28148834		2203	4300	6503	SO:0001819	synonymous_variant	23673			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.825G>A	1.37:g.28148834G>A			B1AJQ7|O95564	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.T275	ENST00000373943.4	37	c.825	CCDS310.1	1																																																																																			STX12	-	NULL		0.418	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX12	HGNC	protein_coding	OTTHUMT00000010519.1	G	NM_177424		28148834	1	no_errors	ENST00000373943	ensembl	human	known	70_37	silent	SNP	0.998	A	A	28148834	G	A	28148834	2	1	117	1	0	0	0	0	0	0	0	1	15368	1045	37	1		1	STX12	1	28148834	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	872240	28148834	221101787	22	17490										
SESN2	83667	genome.wustl.edu	37	chr1	28600017	28600017	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagcctgctggtgaccccctCaggtacagggtcacaggcat	13	13	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:28600017C>G	ENST00000253063.3	+	6	1220	c.899C>G	c.(898-900)tCa>tGa	p.S300*		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	300					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACCCCCTCAGGTACAGGG	0.622																																																	0													22	25	24					1																	28600017		2200	4300	6500	SO:0001587	stop_gained	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.899C>G	1.37:g.28600017C>G	ENSP00000253063:p.Ser300*		Q5T7D0|Q96SI5	Nonsense_Mutation	SNP	pfam_PA26	p.S300*	ENST00000253063.3	37	c.899	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.029606	0.98619	.	.	ENSG00000130766	ENST00000253063	.	.	.	5.09	5.09	0.68999	.	0.808278	0.11113	N	0.598371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.436	16.2648	0.82571	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000253063:S300X	S	+	2	0	SESN2	28472604	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.816000	0.75247	2.362000	0.80069	0.491000	0.48974	TCA	SESN2	-	pfam_PA26		0.622	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	C			28600017	1	no_errors	ENST00000253063	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	28600017	C	G	28600017	4	3	117	1	0	0	0	0	0	1	0	0	14155	838	29	1	921	1	SESN2	1	28600017	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	451183	28600017	220650604	23	17491										
PTPRU	10076	genome.wustl.edu	37	chr1	29647330	29647330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagctgaaccagtccaactCcgcctgggtgaggcctccac	10	17	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:29647330C>T	ENST00000345512.3	+	27	3980	c.3851C>T	c.(3850-3852)tCc>tTc	p.S1284F	PTPRU_ENST00000428026.2_Missense_Mutation_p.S1271F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S1280F|PTPRU_ENST00000460170.2_Missense_Mutation_p.S1280F|PTPRU_ENST00000373779.3_Missense_Mutation_p.S1274F|PTPRU_ENST00000323874.8_Missense_Mutation_p.S1280F	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1284	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGTCCAACTCCGCCTGGGTG	0.632																																																	0													65	58	60					1																	29647330		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3851C>T	1.37:g.29647330C>T	ENSP00000334941:p.Ser1284Phe		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S1284F	ENST00000345512.3	37	c.3851	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160553	0.78226	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	4.39	4.39	0.52855	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.069372	0.64402	D	0.000013	T	0.37865	0.1019	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.14559	-1.0468	9	.	.	.	.	16.4924	0.84205	0.0:1.0:0.0:0.0	.	1271;1280;1274;1280;1284	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	F	1284;1274;1280;1280;1271;1280	ENSP00000334941:S1284F;ENSP00000362884:S1274F;ENSP00000349333:S1280F;ENSP00000314987:S1280F;ENSP00000392332:S1271F;ENSP00000432906:S1280F	.	S	+	2	0	PTPRU	29519917	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	4.493000	0.60341	2.435000	0.82474	0.462000	0.41574	TCC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.632	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	C			29647330	1	no_errors	ENST00000345512	ensembl	human	known	70_37	missense	SNP	0.999	T	T	29647330	C	T	29647330	3	4	117	1	0	0	0	0	1	0	0	0	12843	855	30	1	3979	1	PTPRU	1	29647330	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1047313	29647330	219603291	24	17492										
TXLNA	200081	genome.wustl.edu	37	chr1	32646028	32646028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacaaccggaagcaggacccGagggagcccaggagcggccc	16	14	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:32646028G>A	ENST00000373609.1	+	1	363	c.82G>A	c.(82-84)Gag>Aag	p.E28K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E28K			P40222	TXLNA_HUMAN	taxilin alpha	28					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGGACCCGAGGGAGCCCA	0.612																																																	0													25	28	27					1																	32646028		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.82G>A	1.37:g.32646028G>A	ENSP00000362711:p.Glu28Lys		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E28K	ENST00000373609.1	37	c.82	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698073	0.68386	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.34072	1.38;1.38	4.97	4.97	0.65823	.	0.412920	0.23055	N	0.052457	T	0.30103	0.0754	L	0.44542	1.39	0.33693	D	0.613609	B	0.27700	0.186	B	0.16289	0.015	T	0.36648	-0.9739	10	0.38643	T	0.18	-13.1984	13.9836	0.64319	0.0:0.0:1.0:0.0	.	28	P40222	TXLNA_HUMAN	K	28	ENSP00000362712:E28K;ENSP00000362711:E28K	ENSP00000362711:E28K	E	+	1	0	TXLNA	32418615	0.998000	0.40836	0.909000	0.35828	0.838000	0.47535	4.729000	0.62008	2.766000	0.95052	0.644000	0.83932	GAG	TXLNA	-	NULL		0.612	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32646028	1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	0.956	A	A	32646028	G	A	32646028	3	1	117	1	0	0	0	0	1	0	0	0	16818	1059	37	1	84	1	TXLNA	1	32646028	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2998698	32646028	216604593	25	17493										
CSMD2	114784	genome.wustl.edu	37	chr1	34082535	34082535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggaggagggtagttccatCgccgcactgttccgggcatg	16	10	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:34082535C>T	ENST00000373380.1	-	18	2826	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	CSMD2_ENST00000373377.1_Missense_Mutation_p.R95Q|CSMD2_ENST00000373388.2_Missense_Mutation_p.R95Q|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1996Q			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1956	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTCCATCGCCGCACTGT	0.517																																																	0													103	96	99					1																	34082535		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2606G>A	1.37:g.34082535C>T	ENSP00000362478:p.Arg869Gln		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1996Q	ENST00000373380.1	37	c.5987		1	.	.	.	.	.	.	.	.	.	.	C	37	6.089858	0.97271	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.16	6.16	0.99307	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	N	0.21240	0.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.67534	-0.5646	10	0.38643	T	0.18	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	869;1956;1996	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1996;869;95;95	ENSP00000362479:R1996Q;ENSP00000362478:R869Q;ENSP00000362475:R95Q;ENSP00000362486:R95Q	ENSP00000241312:R1956Q	R	-	2	0	CSMD2	33855122	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.796000	0.85898	2.937000	0.99478	0.650000	0.86243	CGA	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34082535	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34082535	C	T	34082535	3	4	117	1	0	0	0	0	1	0	0	0	3950	884	31	1	4720	1	CSMD2	1	34082535	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1436507	34082535	215168086	26	17494										
C1orf94	84970	genome.wustl.edu	37	chr1	34662969	34662969	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagctctcccgaggggaccaGagagctggctccctgcattc	12	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:34662969G>C	ENST00000488417.1	+	2	584	c.464G>C	c.(463-465)aGa>aCa	p.R155T	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	155										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAGGGGACCAGAGAGCTGGCT	0.587																																																	0													29	32	31					1																	34662969		692	1591	2283	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.464G>C	1.37:g.34662969G>C	ENSP00000435634:p.Arg155Thr		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.R155T	ENST00000488417.1	37	c.464	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	5.170	0.216947	0.09810	.	.	ENSG00000142698	ENST00000488417	T	0.36340	1.26	5.35	2.33	0.28932	.	.	.	.	.	T	0.29190	0.0726	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	B	0.38954	0.286	T	0.11131	-1.0600	9	0.59425	D	0.04	-28.9332	6.9614	0.24599	0.3086:0.0:0.6914:0.0	.	155	Q6P1W5	CA094_HUMAN	T	155	ENSP00000435634:R155T	ENSP00000435634:R155T	R	+	2	0	C1orf94	34435556	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.056000	0.14256	0.193000	0.20303	-0.345000	0.07892	AGA	C1orf94	-	NULL		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	G	NM_032884		34662969	1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.000	C	C	34662969	G	C	34662969	3	2	117	1	0	0	0	0	1	0	0	0	2076	942	33	1	470	1	C1orf94	1	34662969	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	580434	34662969	214587652	27	17495										
HPCAL4	51440	genome.wustl.edu	37	chr1	40149662	40149662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgcccgtcgccgtccaggtCgtacatctcaaaggcccagt	11	16	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40149662C>T	ENST00000372844.3	-	3	716	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	109	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGTCCAGGTCGTACATCTCA	0.682																																																	0													50	51	50					1																	40149662		2203	4300	6503	SO:0001583	missense	51440			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.325G>A	1.37:g.40149662C>T	ENSP00000361935:p.Asp109Asn		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.D109N	ENST00000372844.3	37	c.325	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.373860	0.95923	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	D	0.95821	-3.82	3.45	3.45	0.39498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99387	1.0924	10	0.87932	D	0	.	16.2222	0.82265	0.0:1.0:0.0:0.0	.	109	Q9UM19	HPCL4_HUMAN	N	109;101	ENSP00000361935:D109N	ENSP00000361935:D109N	D	-	1	0	HPCAL4	39922249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.603000	0.82811	2.231000	0.72958	0.313000	0.20887	GAC	HPCAL4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.682	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	C	NM_016257		40149662	-1	no_errors	ENST00000372844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40149662	C	T	40149662	3	4	117	1	0	0	0	0	1	0	0	0	7351	884	31	1	258	1	HPCAL4	1	40149662	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5486693	40149662	209100959	28	17496										
CAP1	5538	genome.wustl.edu	37	chr1	40536182	40536182	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagtaaggatgtcaaagttCaggtaactcgatattttggc	10	6	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40536182C>G	ENST00000433473.3	-	0	2740				CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372792.2_Missense_Mutation_p.Q400E|CAP1_ENST00000372798.1_Missense_Mutation_p.Q399E|CAP1_ENST00000372805.3_Missense_Mutation_p.Q400E|CAP1_ENST00000340450.3_Missense_Mutation_p.Q399E|CAP1_ENST00000372802.1_Missense_Mutation_p.Q399E|CAP1_ENST00000372797.3_Missense_Mutation_p.Q400E	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCAAAGTTCAGGTAACTCG	0.423																																																	0													235	222	226					1																	40536182		1927	4144	6071	SO:0001628	intergenic_variant	10487			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40536182C>G			B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.Q400E	ENST00000433473.3	37	c.1198	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740297	0.89573	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.98	5.98	0.97165	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.69577	-0.5108	10	0.87932	D	0	-14.7834	19.5059	0.95116	0.0:1.0:0.0:0.0	.	347;400	E7ENY9;Q01518	.;CAP1_HUMAN	E	400;399;400;377;399;399;400	ENSP00000361883:Q400E;ENSP00000361888:Q399E;ENSP00000361878:Q400E;ENSP00000361884:Q399E;ENSP00000344832:Q399E;ENSP00000361891:Q400E	ENSP00000344832:Q399E	Q	+	1	0	CAP1	40308769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.675000	0.84002	2.853000	0.98044	0.644000	0.83932	CAG	CAP1	-	pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif		0.423	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP1	HGNC	protein_coding	OTTHUMT00000013126.2	C	NM_000310		40536182	1	no_errors	ENST00000372792	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40536182	C	G	40536182	1	3	117	0	1	0	0	0	0	0	0	0	2624	827	29	1		1	CAP1	1	40536182	IGR	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	386520	40536182	208714439	29	17497										
PPT1	5538	genome.wustl.edu	37	chr1	40557775	40557775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccttgctgcaatttaggatCcttagcaagtgcctgacaca	9	11	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40557775C>A	ENST00000433473.3	-	3	768	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	102					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTTAGGATCCTTAGCAAGT	0.423																																																	0													151	147	149					1																	40557775		2203	4300	6503	SO:0001583	missense	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.304G>T	1.37:g.40557775C>A	ENSP00000394863:p.Asp102Tyr		B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.D102Y	ENST00000433473.3	37	c.304	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386490	0.61956	.	.	ENSG00000131238	ENST00000433473;ENST00000372779;ENST00000526547	D;D;D	0.97731	-4.51;-4.51;-4.51	5.53	4.62	0.57501	.	0.045661	0.85682	D	0.000000	D	0.98639	0.9544	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.971;0.992	D	0.99461	1.0943	10	0.21014	T	0.42	-5.0039	9.8255	0.40910	0.0:0.8419:0.0:0.1581	.	52;102	B4DWU3;P50897	.;PPT1_HUMAN	Y	102;131;52	ENSP00000394863:D102Y;ENSP00000361865:D131Y;ENSP00000436481:D52Y	ENSP00000361865:D131Y	D	-	1	0	PPT1	40330362	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	4.562000	0.60816	1.494000	0.48533	-0.145000	0.13849	GAT	PPT1	-	pfam_Palm_thioest		0.423	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	HGNC	protein_coding	OTTHUMT00000013126.2	C	NM_000310		40557775	-1	no_errors	ENST00000433473	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40557775	C	A	40557775	3	1	117	1	0	0	0	0	1	0	0	0	12438	855	30	3	644	3	PPT1	1	40557775	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	21593	40557775	208692846	30	17498										
SMAP2	64744	genome.wustl.edu	37	chr1	40887752	40887752	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggcagcaaatcagactctCagtcctcagatgtggaaata	9	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40887752C>T	ENST00000539317.1	+	10	1222	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	423	Interaction with PICALM. {ECO:0000250}.|Met-rich.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ATCAGACTCTCAGTCCTCAGA	0.517																																																	0													100	85	90					1																	40887752		2203	4300	6503	SO:0001819	synonymous_variant	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.1029C>T	1.37:g.40887752C>T			B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L423	ENST00000539317.1	37	c.1269	CCDS55593.1	1																																																																																			SMAP2	-	NULL		0.517	SMAP2-201	KNOWN	basic|CCDS	protein_coding	SMAP2	HGNC	protein_coding		C	NM_022733		40887752	1	no_errors	ENST00000372718	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40887752	C	T	40887752	2	4	117	1	0	0	0	0	0	0	0	1	14797	813	29	1		1	SMAP2	1	40887752	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	329977	40887752	208362869	31	17499										
EDN2	1907	genome.wustl.edu	37	chr1	41949753	41949753	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagatgatgtccaagtggcaGaagtagacgcactccttgtc	11	10	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:41949753G>A	ENST00000372587.4	-	2	255	c.186C>T	c.(184-186)ttC>ttT	p.F62F	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	62					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAAGTGGCAGAAGTAGACGC	0.617																																																	0													54	41	45					1																	41949753		2203	4300	6503	SO:0001819	synonymous_variant	1907			M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"Endogenous ligands"	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.186C>T	1.37:g.41949753G>A			Q5T1R3	Silent	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.F62	ENST00000372587.4	37	c.186	CCDS462.1	1																																																																																			EDN2	-	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D		0.617	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN2	HGNC	protein_coding	OTTHUMT00000016983.1	G	NM_001956		41949753	-1	no_errors	ENST00000372587	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41949753	G	A	41949753	2	1	117	1	0	0	0	0	0	0	0	1	4927	933	33	1		1	EDN2	1	41949753	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1062001	41949753	207300868	32	17500										
PTCH2	8643	genome.wustl.edu	37	chr1	45292359	45292359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgcccgggccccctcgatgGcctccacaaagtctgcagtc	10	18	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45292359G>A	ENST00000372192.3	-	18	2907	c.2777C>T	c.(2776-2778)gCc>gTc	p.A926V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A926V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	926					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCCTCGATGGCCTCCACAAA	0.672									Basal Cell Nevus syndrome																																								0													15	18	17					1																	45292359		2196	4283	6479	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2777C>T	1.37:g.45292359G>A	ENSP00000361266:p.Ala926Val		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.A926V	ENST00000372192.3	37	c.2777	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355866	0.24598	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.85861	-2.04;-2.04	3.89	3.89	0.44902	.	0.138835	0.33477	N	0.004870	D	0.86066	0.5844	L	0.48642	1.525	0.50813	D	0.999895	B;P	0.45827	0.165;0.867	B;P	0.53760	0.083;0.734	T	0.82305	-0.0523	10	0.15952	T	0.53	-36.6122	17.1751	0.86839	0.0:0.0:1.0:0.0	.	926;926	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	926	ENSP00000389703:A926V;ENSP00000361266:A926V	ENSP00000361266:A926V	A	-	2	0	PTCH2	45064946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.227000	0.78070	2.462000	0.83206	0.563000	0.77884	GCC	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.672	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45292359	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45292359	G	A	45292359	3	1	117	1	0	0	0	0	1	0	0	0	12758	1203	42	4	874	4	PTCH2	1	45292359	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3342606	45292359	203958262	33	17501										
HECTD3	79654	genome.wustl.edu	37	chr1	45469601	45469601	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acaaagcgcaggaagcggctCcggtcctctggagggagaag	16	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45469601C>T	ENST00000372172.4	-	19	2426	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.R395R	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	785	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGAAGCGGCTCCGGTCCTCTG	0.602																																																	0													45	54	51					1																	45469601		2068	4181	6249	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2355G>A	1.37:g.45469601C>T			B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.R785	ENST00000372172.4	37	c.2355	CCDS41318.1	1																																																																																			HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.602	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45469601	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	silent	SNP	0.999	T	T	45469601	C	T	45469601	2	4	117	1	0	0	0	0	0	0	0	1	7061	842	30	1		1	HECTD3	1	45469601	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	177242	45469601	203781020	34	17502			1	77		5	5	857	C		8.908691e-08
HECTD3	79654	genome.wustl.edu	37	chr1	45469798	45469798	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcagatggctcgaagtcctCaaaccgggctggtggagaca	14	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45469798C>G	ENST00000372172.4	-	18	2352	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.E371Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	761	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCGAAGTCCTCAAACCGGGCT	0.587																																																	0													97	107	103					1																	45469798		2105	4230	6335	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2281G>C	1.37:g.45469798C>G	ENSP00000361245:p.Glu761Gln		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.E761Q	ENST00000372172.4	37	c.2281	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.884699	0.91814	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.43294	0.95;0.95	5.65	4.69	0.59074	HECT (4);	0.205884	0.50627	D	0.000103	T	0.50463	0.1617	L	0.49640	1.575	0.52501	D	0.999954	P;B	0.52577	0.954;0.225	P;B	0.54060	0.741;0.095	T	0.43245	-0.9403	10	0.39692	T	0.17	.	15.3978	0.74812	0.1398:0.8602:0.0:0.0	.	761;371	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	761;371	ENSP00000361245:E761Q;ENSP00000361241:E371Q	ENSP00000361241:E371Q	E	-	1	0	HECTD3	45242385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.218000	0.58554	2.658000	0.90341	0.551000	0.68910	GAG	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.587	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45469798	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45469798	C	G	45469798	3	3	117	1	0	0	0	0	1	0	0	0	7061	835	29	1	320	1	HECTD3	1	45469798	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	197	45469798	203780823	35	17503			1	77		5	5	857	C		8.908691e-08
HECTD3	79654	genome.wustl.edu	37	chr1	45469950	45469950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagagcatccacagtgacctCtggatccccacacactttct	6	16	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45469950C>G	ENST00000372172.4	-	17	2313	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.E358Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	748	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ACAGTGACCTCTGGATCCCCA	0.607																																																	0													98	101	100					1																	45469950		2121	4265	6386	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2242G>C	1.37:g.45469950C>G	ENSP00000361245:p.Glu748Gln		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.E748Q	ENST00000372172.4	37	c.2242	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	34	5.361022	0.95877	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.59502	0.26;0.26	5.78	5.78	0.91487	HECT (4);	0.045065	0.85682	D	0.000000	T	0.74535	0.3729	M	0.78223	2.4	0.80722	D	1	P;D	0.63880	0.924;0.993	P;P	0.56865	0.784;0.808	T	0.76958	-0.2766	10	0.72032	D	0.01	.	20.0223	0.97509	0.0:1.0:0.0:0.0	.	748;358	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	748;358	ENSP00000361245:E748Q;ENSP00000361241:E358Q	ENSP00000361241:E358Q	E	-	1	0	HECTD3	45242537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.788000	0.62439	2.726000	0.93360	0.643000	0.83706	GAG	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45469950	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45469950	C	G	45469950	3	3	117	1	0	0	0	0	1	0	0	0	7061	922	32	1	363	1	HECTD3	1	45469950	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	152	45469950	203780671	36	17504			1	77		5	5	857	C		8.908691e-08
HECTD3	79654	genome.wustl.edu	37	chr1	45470392	45470392	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccaccacctgttggtcactCagtacagtggtgaatgttag	10	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45470392C>T	ENST00000372172.4	-	16	2093	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.L284L	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	674	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GTTGGTCACTCAGTACAGTGG	0.537																																																	0													173	173	173					1																	45470392		2053	4180	6233	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2022G>A	1.37:g.45470392C>T			B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.L674	ENST00000372172.4	37	c.2022	CCDS41318.1	1																																																																																			HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.537	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45470392	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	silent	SNP	0.999	T	T	45470392	C	T	45470392	2	4	117	1	0	0	0	0	0	0	0	1	7061	813	29	1		1	HECTD3	1	45470392	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	442	45470392	203780229	37	17505			1	77		5	5	857	C		8.908691e-08
HECTD3	79654	genome.wustl.edu	37	chr1	45470457	45470457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgtctccttgtccattccttCcatcacttccaggagcttca	5	16	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45470457C>G	ENST00000372172.4	-	16	2028	c.1957G>C	c.(1957-1959)Gaa>Caa	p.E653Q	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.E263Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	653	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCATTCCTTCCATCACTTCC	0.517																																																	0													136	135	135					1																	45470457		2009	4170	6179	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1957G>C	1.37:g.45470457C>G	ENSP00000361245:p.Glu653Gln		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.E653Q	ENST00000372172.4	37	c.1957	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.833627	0.91036	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.55930	0.49;0.49	4.88	4.88	0.63580	HECT (4);	0.167742	0.52532	D	0.000068	T	0.67392	0.2888	M	0.78801	2.425	0.80722	D	1	P;D	0.56746	0.924;0.977	P;P	0.55923	0.784;0.787	T	0.65138	-0.6241	10	0.22109	T	0.4	.	18.2056	0.89853	0.0:1.0:0.0:0.0	.	653;263	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	653;263	ENSP00000361245:E653Q;ENSP00000361241:E263Q	ENSP00000361241:E263Q	E	-	1	0	HECTD3	45243044	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.272000	0.78516	2.539000	0.85634	0.561000	0.74099	GAA	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.517	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45470457	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45470457	C	G	45470457	3	3	117	1	0	0	0	0	1	0	0	0	7061	864	30	1	652	1	HECTD3	1	45470457	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	65	45470457	203780164	38	17506			1	77		5	5	857	C		8.908691e-08
CYP4A22	284541	genome.wustl.edu	37	chr1	47609027	47609027	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accctggacaccatcatgaaGagtgccttcagccatcaggg	10	13	3	2	rs143840411		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:47609027G>C	ENST00000371891.3	+	5	628	c.597G>C	c.(595-597)aaG>aaC	p.K199N	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.K199N|CYP4A22_ENST00000294337.3_Missense_Mutation_p.K199N|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	199						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K199K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATCATGAAGAGTGCCTTCA	0.562																																					Pancreas(88;1240 1470 2099 14214 37557)												1	Substitution - coding silent(1)	skin(1)											131	115	120					1																	47609027		2203	4300	6503	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.597G>C	1.37:g.47609027G>C	ENSP00000360958:p.Lys199Asn		Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.K199N	ENST00000371891.3	37	c.597	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	10.18	1.278439	0.23307	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.69175	-0.38;-0.38;-0.38	1.44	1.44	0.22558	.	0.100458	0.64402	D	0.000003	T	0.80243	0.4587	M	0.91818	3.245	0.43141	D	0.994894	D;D	0.89917	1.0;0.988	D;D	0.91635	0.999;0.93	T	0.78471	-0.2191	10	0.87932	D	0	.	3.1653	0.06534	0.5405:0.0:0.4595:0.0	.	199;199	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	N	199	ENSP00000360957:K199N;ENSP00000360958:K199N;ENSP00000294337:K199N	ENSP00000294337:K199N	K	+	3	2	CYP4A22	47381614	0.998000	0.40836	0.981000	0.43875	0.245000	0.25701	0.315000	0.19451	1.127000	0.42034	0.194000	0.17425	AAG	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.562	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47609027	1	no_errors	ENST00000371891	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47609027	G	C	47609027	3	2	117	1	0	0	0	0	1	0	0	0	4189	933	33	1	615	1	CYP4A22	1	47609027	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2138570	47609027	201641594	39	17507										
CYP4A22	284541	genome.wustl.edu	37	chr1	47610227	47610227	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccacggtcttcccagatggaGaatgggagcatcttgtcaga	12	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:47610227G>A	ENST00000371891.3	+	8	934	c.903G>A	c.(901-903)gaG>gaA	p.E301E	CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Silent_p.E301E|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	301						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCAGATGGAGAATGGGAGCA	0.537																																					Pancreas(88;1240 1470 2099 14214 37557)												0													179	169	172					1																	47610227		2203	4300	6503	SO:0001819	synonymous_variant	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.903G>A	1.37:g.47610227G>A			Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.E301	ENST00000371891.3	37	c.903	CCDS30707.1	1																																																																																			CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.537	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47610227	1	no_errors	ENST00000371891	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47610227	G	A	47610227	2	1	117	1	0	0	0	0	0	0	0	1	4189	933	33	1		1	CYP4A22	1	47610227	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1200	47610227	201640394	40	17508										
TTC39A	22996	genome.wustl.edu	37	chr1	51774962	51774962	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtagctgtttcgaactttGatgccgcctttgatgaagct	11	8	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:51774962G>C	ENST00000447632.2	-	6	615	c.567C>G	c.(565-567)atC>atG	p.I189M	TTC39A_ENST00000262676.5_Missense_Mutation_p.I185M|TTC39A_ENST00000371750.5_Missense_Mutation_p.I154M|TTC39A_ENST00000413473.2_Missense_Mutation_p.I157M|TTC39A_ENST00000451380.1_Missense_Mutation_p.I153M|TTC39A_ENST00000371747.3_Missense_Mutation_p.I188M|TTC39A_ENST00000262675.7_Missense_Mutation_p.I126M			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	189								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCGAACTTTGATGCCGCCTT	0.597																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											146	149	148					1																	51774962		2039	4195	6234	SO:0001583	missense	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.567C>G	1.37:g.51774962G>C	ENSP00000393952:p.Ile189Met		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.I189M	ENST00000447632.2	37	c.567		1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938521	0.52972	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925;ENST00000380849	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.06	5.06	0.68205	.	0.049900	0.85682	D	0.000000	T	0.33147	0.0853	N	0.25245	0.725	0.58432	D	0.999991	B;B;B;P;B;B;B	0.36683	0.026;0.078;0.128;0.565;0.149;0.078;0.105	B;B;B;B;B;B;B	0.37267	0.056;0.144;0.124;0.245;0.144;0.201;0.076	T	0.10941	-1.0608	10	0.35671	T	0.21	-20.8803	17.5511	0.87875	0.0:0.0:1.0:0.0	.	157;153;126;185;153;189;154	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	M	189;157;126;153;154;188;185;126;153;126;161	ENSP00000393952:I189M;ENSP00000406144:I157M;ENSP00000262675:I126M;ENSP00000397207:I153M;ENSP00000360815:I154M;ENSP00000360812:I188M;ENSP00000262676:I185M;ENSP00000408532:I126M;ENSP00000405803:I153M;ENSP00000388995:I126M;ENSP00000370230:I161M	ENSP00000262675:I126M	I	-	3	3	TTC39A	51547550	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.929000	0.70096	2.523000	0.85059	0.436000	0.28706	ATC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39		0.597	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	G			51774962	-1	no_errors	ENST00000447632	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51774962	G	C	51774962	3	2	117	1	0	0	0	0	1	0	0	0	16738	1280	45	1	1326	1	TTC39A	1	51774962	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4164735	51774962	197475659	41	17509										
LRP8	7804	genome.wustl.edu	37	chr1	53728200	53728200	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgagcccagatttctcaatCttggcctggtccccccagtc	8	15	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:53728200C>G	ENST00000306052.6	-	11	1793	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N	LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000371454.2_Missense_Mutation_p.K564N|LRP8_ENST00000347547.2_Missense_Mutation_p.K394N|LRP8_ENST00000354412.3_Missense_Mutation_p.K435N|LRP8_ENST00000465675.1_Missense_Mutation_p.K117N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	564					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATTTCTCAATCTTGGCCTGGT	0.522																																																	0													218	218	218					1																	53728200		2203	4300	6503	SO:0001583	missense	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1692G>C	1.37:g.53728200C>G	ENSP00000303634:p.Lys564Asn		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.K564N	ENST00000306052.6	37	c.1692	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095405	0.76870	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.64	4.73	0.59995	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.97974	0.9333	H	0.97758	4.07	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.997	D;D;D;D;D;D	0.91635	0.994;0.998;0.999;0.994;0.991;0.989	D	0.98006	1.0363	9	0.87932	D	0	.	8.9179	0.35592	0.0:0.7819:0.0:0.2181	.	117;435;394;564;564;117	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	N	564;564;117;435;394	ENSP00000303634:K564N;ENSP00000360509:K564N;ENSP00000437009:K117N;ENSP00000346391:K435N;ENSP00000334522:K394N	ENSP00000303634:K564N	K	-	3	2	LRP8	53500788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.309000	0.33539	1.623000	0.50342	0.650000	0.86243	AAG	LRP8	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.522	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	C	NM_004631		53728200	-1	no_errors	ENST00000306052	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53728200	C	G	53728200	3	3	117	1	0	0	0	0	1	0	0	0	8986	912	32	1	1235	1	LRP8	1	53728200	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1953238	53728200	195522421	42	17510										
INADL	10207	genome.wustl.edu	37	chr1	62329999	62329999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttccattcccaacaaaaagaGatagagcaaagcaaggaggc	9	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:62329999G>C	ENST00000371158.2	+	20	2643	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	INADL_ENST00000316485.6_Missense_Mutation_p.E843D	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	843					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACAAAAAGAGATAGAGCAAA	0.363																																																	0													73	73	73					1																	62329999		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2529G>C	1.37:g.62329999G>C	ENSP00000360200:p.Glu843Asp		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E843D	ENST00000371158.2	37	c.2529	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	6.906	0.536752	0.13188	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13089	2.75;2.62	5.17	-2.41	0.06562	.	0.540921	0.17776	N	0.162431	T	0.06645	0.0170	L	0.32530	0.975	0.21290	N	0.99974	B;B;B	0.14805	0.011;0.003;0.003	B;B;B	0.13407	0.005;0.004;0.009	T	0.44314	-0.9336	10	0.02654	T	1	.	6.797	0.23731	0.4322:0.219:0.3489:0.0	.	843;843;843	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	D	843	ENSP00000360200:E843D;ENSP00000326199:E843D	ENSP00000255202:E843D	E	+	3	2	INADL	62102587	0.079000	0.21365	0.034000	0.17996	0.927000	0.56198	-0.077000	0.11394	-0.320000	0.08640	0.555000	0.69702	GAG	INADL	-	NULL		0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	G	NM_170605		62329999	1	no_errors	ENST00000371158	ensembl	human	known	70_37	missense	SNP	0.005	C	C	62329999	G	C	62329999	3	2	117	1	0	0	0	0	1	0	0	0	7751	933	33	1	2603	1	INADL	1	62329999	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8601799	62329999	186920622	43	17511										
KANK4	163782	genome.wustl.edu	37	chr1	62739081	62739081	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcaggagctcctggatcttCttcacatactgcccaatagt	8	12	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:62739081C>T	ENST00000371153.4	-	3	2073	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	565						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTGGATCTTCTTCACATACT	0.617																																																	0													56	52	54					1																	62739081		2203	4300	6503	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1695G>A	1.37:g.62739081C>T			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K565	ENST00000371153.4	37	c.1695	CCDS620.1	1																																																																																			KANK4	-	NULL		0.617	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	C	NM_181712		62739081	-1	no_errors	ENST00000371153	ensembl	human	known	70_37	silent	SNP	0.991	T	T	62739081	C	T	62739081	2	4	117	1	0	0	0	0	0	0	0	1	7999	912	32	1		1	KANK4	1	62739081	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	409082	62739081	186511540	44	17512										
DIRAS3	9077	genome.wustl.edu	37	chr1	68512439	68512439	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattcacatcggtcttggctGaaatctccatgaaggcgcaa	9	11	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:68512439G>A	ENST00000370981.1	-	4	1178	c.542C>T	c.(541-543)tCa>tTa	p.S181L	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.S181L|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	181					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGTCTTGGCTGAAATCTCCAT	0.547																																																	0													124	122	122					1																	68512439		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.542C>T	1.37:g.68512439G>A	ENSP00000360020:p.Ser181Leu		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S181L	ENST00000370981.1	37	c.542	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605498	0.66445	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.86627	-2.15;-2.15	4.66	3.75	0.43078	Small GTP-binding protein domain (1);	.	.	.	.	D	0.95592	0.8567	H	0.99211	4.47	0.48632	D	0.999687	D	0.89917	1.0	D	0.91635	0.999	D	0.96490	0.9363	9	0.72032	D	0.01	.	12.7581	0.57347	0.0811:0.0:0.9189:0.0	.	181	O95661	DIRA3_HUMAN	L	181	ENSP00000360020:S181L;ENSP00000378627:S181L	ENSP00000360020:S181L	S	-	2	0	DIRAS3	68285027	1.000000	0.71417	0.219000	0.23793	0.183000	0.23260	8.927000	0.92846	1.104000	0.41587	0.650000	0.86243	TCA	DIRAS3	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	G	NM_004675		68512439	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.998	A	A	68512439	G	A	68512439	3	1	117	1	0	0	0	0	1	0	0	0	4542	1294	45	1	151	1	DIRAS3	1	68512439	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5773358	68512439	180738182	45	17513										
FPGT	8790	genome.wustl.edu	37	chr1	74670707	74670707	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacatcaaatgtcattaaaGaagagtcagagttggtagaa	9	5	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:74670707G>C	ENST00000609362.1	+	4	1013	c.976G>C	c.(976-978)Gaa>Caa	p.E326Q	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.E339Q|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000534056.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	326					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTCATTAAAGAAGAGTCAGA	0.383																																																	0													69	70	70					1																	74670707		2203	4300	6503	SO:0001583	missense	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.976G>C	1.37:g.74670707G>C	ENSP00000476680:p.Glu326Gln		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.E326Q	ENST00000609362.1	37	c.976	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205178	0.22205	.	.	ENSG00000254685	ENST00000370898	T	0.33865	1.39	5.66	5.66	0.87406	L-fucokinase (1);	.	.	.	.	T	0.25717	0.0626	L	0.53249	1.67	0.80722	D	1	P	0.42078	0.77	B	0.42692	0.395	T	0.02385	-1.1167	8	.	.	.	.	13.0178	0.58768	0.0734:0.0:0.9266:0.0	.	326	O14772	FPGT_HUMAN	Q	326	ENSP00000359935:E326Q	.	E	+	1	0	TNNI3K	74443295	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	5.079000	0.64431	2.666000	0.90696	0.655000	0.94253	GAA	FPGT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase		0.383	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		G			74670707	1	no_errors	ENST00000370898	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74670707	G	C	74670707	3	2	117	1	0	0	0	0	1	0	0	0	6055	943	33	1	990	1	FPGT	1	74670707	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6158268	74670707	174579914	46	17514										
LHX8	431707	genome.wustl.edu	37	chr1	75608863	75608863	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattctactgactgggtccgGagagccaaggggaatgtcta	13	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:75608863G>C	ENST00000294638.5	+	6	1114	c.450G>C	c.(448-450)cgG>cgC	p.R150R	LHX8_ENST00000356261.3_Silent_p.R140R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	150	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACTGGGTCCGGAGAGCCAAGG	0.463																																																	0													121	114	117					1																	75608863		2203	4299	6502	SO:0001819	synonymous_variant	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.450G>C	1.37:g.75608863G>C			E9PGE3	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.R150	ENST00000294638.5	37	c.450	CCDS30756.1	1																																																																																			LHX8	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.463	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	HGNC	protein_coding	OTTHUMT00000026700.1	G	NM_001001933		75608863	1	no_errors	ENST00000294638	ensembl	human	known	70_37	silent	SNP	1.000	C	C	75608863	G	C	75608863	2	2	117	1	0	0	0	0	0	0	0	1	8796	1161	41	1		1	LHX8	1	75608863	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	938156	75608863	173641758	47	17515										
COL24A1	255631	genome.wustl.edu	37	chr1	86591470	86591470	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtctctgtgctaaaatatttCtttccacactcaacaaacat	3	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:86591470C>G	ENST00000370571.2	-	3	915	c.549G>C	c.(547-549)aaG>aaC	p.K183N	COL24A1_ENST00000436319.1_Missense_Mutation_p.K183N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	183	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAAAATATTTCTTTCCACACT	0.343																																																	0													57	52	54					1																	86591470		1827	4084	5911	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.549G>C	1.37:g.86591470C>G	ENSP00000359603:p.Lys183Asn		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K183N	ENST00000370571.2	37	c.549	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005105	0.07773	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02258	4.37;4.37	5.61	2.65	0.31530	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.175079	0.27482	N	0.019162	T	0.00936	0.0031	L	0.55834	1.745	0.30944	N	0.725518	B;B	0.20671	0.047;0.012	B;B	0.16289	0.015;0.011	T	0.45731	-0.9241	10	0.49607	T	0.09	.	6.1889	0.20513	0.1281:0.5545:0.2478:0.0695	.	183;183	F8WDM8;Q17RW2	.;COOA1_HUMAN	N	183	ENSP00000359603:K183N;ENSP00000392531:K183N	ENSP00000359603:K183N	K	-	3	2	COL24A1	86364058	1.000000	0.71417	0.963000	0.40424	0.637000	0.38172	0.888000	0.28268	0.278000	0.22164	0.655000	0.94253	AAG	COL24A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86591470	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	0.976	G	G	86591470	C	G	86591470	3	3	117	1	0	0	0	0	1	0	0	0	3688	912	32	1	4827	1	COL24A1	1	86591470	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10982607	86591470	162659151	48	17516										
SH3GLB1	51100	genome.wustl.edu	37	chr1	87185229	87185229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtttatgagaaactggataGaaaagctccaagtcgtataa	9	5	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:87185229G>C	ENST00000370558.4	+	3	578	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R85T|SH3GLB1_ENST00000535010.1_5'UTR	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	85	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AAACTGGATAGAAAAGCTCCA	0.353																																																	0													67	70	69					1																	87185229		2203	4300	6503	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.254G>C	1.37:g.87185229G>C	ENSP00000473267:p.Arg85Thr		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.R85T	ENST00000370558.4	37	c.254	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374965	0.82573	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.30448	1.53	5.95	5.95	0.96441	BAR (3);	0.042039	0.85682	D	0.000000	T	0.52273	0.1724	M	0.81682	2.555	0.80722	D	1	P;P	0.48764	0.897;0.915	P;P	0.60473	0.543;0.875	T	0.53380	-0.8447	10	0.72032	D	0.01	0.0	20.3747	0.98911	0.0:0.0:1.0:0.0	.	85;85	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	85	ENSP00000418744:R85T	ENSP00000212369:R85T	R	+	2	0	SH3GLB1	86957817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.612000	0.82975	2.817000	0.96982	0.563000	0.77884	AGA	SH3GLB1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.353	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	G	NM_016009		87185229	1	no_errors	ENST00000482504	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87185229	G	C	87185229	3	2	117	1	0	0	0	0	1	0	0	0	14283	942	33	1	264	1	SH3GLB1	1	87185229	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	593759	87185229	162065392	49	17517										
LRRC8B	23507	genome.wustl.edu	37	chr1	90058471	90058471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctcattggtaattacctgGaaacacttcctcctgaacta	6	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:90058471G>A	ENST00000330947.2	+	6	2641	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	LRRC8B_ENST00000358200.4_Missense_Mutation_p.E761K|LRRC8B_ENST00000439853.1_Missense_Mutation_p.E761K|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	761					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTACCTGGAAACACTTCC	0.438																																																	0													144	132	136					1																	90058471		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2281G>A	1.37:g.90058471G>A	ENSP00000332674:p.Glu761Lys		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E761K	ENST00000330947.2	37	c.2281	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.891692	0.97074	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.00940	5.52;5.52;5.52	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000003	T	0.01730	0.0055	L	0.28776	0.89	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.79642	-0.1718	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	761	Q6P9F7	LRC8B_HUMAN	K	761	ENSP00000332674:E761K;ENSP00000350933:E761K;ENSP00000400704:E761K	.	E	+	1	0	LRRC8B	89831059	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.318000	0.96334	2.880000	0.98712	0.650000	0.86243	GAA	LRRC8B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.438	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	G	NM_015350		90058471	1	no_errors	ENST00000330947	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90058471	G	A	90058471	3	1	117	1	0	0	0	0	1	0	0	0	9045	1175	41	1	2287	1	LRRC8B	1	90058471	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2873242	90058471	159192150	50	17518										
HFM1	164045	genome.wustl.edu	37	chr1	91851329	91851329	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttcactgagccaatgtgaGagtccaattcattgtcatta	7	8	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:91851329G>A	ENST00000370425.3	-	5	655	c.557C>T	c.(556-558)tCt>tTt	p.S186F	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	186					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCCAATGTGAGAGTCCAATTC	0.323																																																	0													88	86	87					1																	91851329		2203	4299	6502	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.557C>T	1.37:g.91851329G>A	ENSP00000359454:p.Ser186Phe		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S186F	ENST00000370425.3	37	c.557	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913663	0.17907	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.61742	0.08;1.2	5.82	2.52	0.30459	.	2.922300	0.04287	U	0.344821	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	0.999997	B;B	0.16166	0.016;0.006	B;B	0.12156	0.007;0.004	T	0.14227	-1.0480	10	0.09843	T	0.71	.	6.2557	0.20872	0.1977:0.0:0.6518:0.1505	.	186;186	B7ZM16;A2PYH4	.;HFM1_HUMAN	F	186;219;45;144	ENSP00000359454:S186F;ENSP00000388900:S144F	ENSP00000359454:S186F	S	-	2	0	HFM1	91623917	0.014000	0.17966	0.013000	0.15412	0.969000	0.65631	0.570000	0.23653	0.776000	0.33473	0.655000	0.94253	TCT	HFM1	-	NULL		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91851329	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.004	A	A	91851329	G	A	91851329	3	1	117	1	0	0	0	0	1	0	0	0	7103	942	33	1	3890	1	HFM1	1	91851329	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1792858	91851329	157399292	51	17519										
BRDT	676	genome.wustl.edu	37	chr1	92441964	92441964	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaacgtggtacagggagcttCagtcaactccagttcacaaa	10	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:92441964C>T	ENST00000362005.3	+	6	1005	c.587C>T	c.(586-588)tCa>tTa	p.S196L	BRDT_ENST00000394530.3_Missense_Mutation_p.S150L|BRDT_ENST00000399546.2_Missense_Mutation_p.S196L|BRDT_ENST00000402388.1_Missense_Mutation_p.S196L|BRDT_ENST00000370389.2_Missense_Mutation_p.S123L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	196					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAGGGAGCTTCAGTCAACTCC	0.368																																																	0													72	68	70					1																	92441964		2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.587C>T	1.37:g.92441964C>T	ENSP00000354568:p.Ser196Leu		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S196L	ENST00000362005.3	37	c.587	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526671	0.27299	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	T;T;T;T;T;T;T	0.19532	3.26;3.28;3.26;3.33;2.14;2.94;3.26	4.81	-0.35	0.12606	.	0.709364	0.13483	N	0.384514	T	0.05318	0.0141	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.37606	T	0.19	0.0023	7.7546	0.28917	0.0:0.5408:0.0:0.4592	.	150;150;200;196	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	196;123;196;196;150;196;196;196	ENSP00000354568:S196L;ENSP00000359416:S123L;ENSP00000387822:S196L;ENSP00000378038:S150L;ENSP00000416714:S196L;ENSP00000404969:S196L;ENSP00000384051:S196L	ENSP00000354568:S196L	S	+	2	0	BRDT	92214552	0.006000	0.16342	0.000000	0.03702	0.043000	0.13939	0.130000	0.15850	-0.262000	0.09392	-0.300000	0.09419	TCA	BRDT	-	NULL		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	C	NM_207189		92441964	1	no_errors	ENST00000362005	ensembl	human	known	70_37	missense	SNP	0.042	T	T	92441964	C	T	92441964	3	4	117	1	0	0	0	0	1	0	0	0	1511	838	29	1	601	1	BRDT	1	92441964	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	590635	92441964	156808657	52	17520										
DPYD	1806	genome.wustl.edu	37	chr1	97547945	97547945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagttgatacacatttcttCatcaatcatagccacaactt	3	11	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:97547945C>T	ENST00000370192.3	-	22	2948	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	950	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CACATTTCTTCATCAATCATA	0.388																																																	0													243	221	229					1																	97547945		2203	4300	6503	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2848G>A	1.37:g.97547945C>T	ENSP00000359211:p.Glu950Lys		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.E950K	ENST00000370192.3	37	c.2848	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675483	0.88445	.	.	ENSG00000188641	ENST00000370192	D	0.88664	-2.41	5.82	5.82	0.92795	4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	L	0.38692	1.165	0.80722	D	1	P	0.48230	0.907	P	0.50934	0.654	D	0.88391	0.3008	10	0.66056	D	0.02	-25.6191	20.0954	0.97838	0.0:1.0:0.0:0.0	.	950	Q12882	DPYD_HUMAN	K	950	ENSP00000359211:E950K	ENSP00000359211:E950K	E	-	1	0	DPYD	97320533	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.074000	0.50065	2.746000	0.94184	0.655000	0.94253	GAA	DPYD	-	NULL		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	C	NM_000110		97547945	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	missense	SNP	1.000	T	T	97547945	C	T	97547945	3	4	117	1	0	0	0	0	1	0	0	0	4755	835	29	1	237	1	DPYD	1	97547945	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5105981	97547945	151702676	53	17521										
AGL	178	genome.wustl.edu	37	chr1	100347192	100347192	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgtatctagaactgctttCaggaatcccaagacttcatt	7	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:100347192C>T	ENST00000294724.4	+	17	2731	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	AGL_ENST00000370163.3_Silent_p.F751F|AGL_ENST00000361302.3_Silent_p.F735F|AGL_ENST00000370161.2_Silent_p.F735F|AGL_ENST00000361915.3_Silent_p.F751F|AGL_ENST00000370165.3_Silent_p.F751F|AGL_ENST00000361522.4_Silent_p.F734F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	751					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAACTGCTTTCAGGAATCCCA	0.388																																																	0													147	140	142					1																	100347192		2203	4300	6503	SO:0001819	synonymous_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2253C>T	1.37:g.100347192C>T			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.F751	ENST00000294724.4	37	c.2253	CCDS759.1	1																																																																																			AGL	-	tigrfam_Glycogen_debranch_met		0.388	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	C	NM_000028		100347192	1	no_errors	ENST00000294724	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100347192	C	T	100347192	2	4	117	1	0	0	0	0	0	0	0	1	384	825	29	1		1	AGL	1	100347192	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2799247	100347192	148903429	54	17522										
GSTM2	2946	genome.wustl.edu	37	chr1	110213924	110213924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcaggagaaactgaaaccaGaatacctgcaggcactccct	8	13	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:110213924G>A	ENST00000241337.4	+	6	426	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	GSTM2_ENST00000442650.1_Missense_Mutation_p.E126K|GSTM2_ENST00000369831.2_Missense_Mutation_p.E126K|GSTM2_ENST00000369829.2_Missense_Mutation_p.E126K|GSTM2_ENST00000369827.3_Missense_Mutation_p.E124K|GSTM2_ENST00000414179.2_Missense_Mutation_p.E22K|GSTM2_ENST00000460717.3_Missense_Mutation_p.E126K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	126	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACTGAAACCAGAATACCTGCA	0.542																																																	0													85	83	84					1																	110213924		2203	4300	6503	SO:0001583	missense	2946			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.376G>A	1.37:g.110213924G>A	ENSP00000241337:p.Glu126Lys		B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.E126K	ENST00000241337.4	37	c.376	CCDS808.1	1	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491266	0.12702	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.03663	4.38;3.85;4.38;4.38;4.38;4.38;4.38	3.06	2.12	0.27331	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.588316	0.15445	N	0.261989	T	0.01092	0.0036	L	0.40543	1.245	0.09310	N	1	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.15870	0.014;0.007;0.003	T	0.46871	-0.9160	10	0.24483	T	0.36	.	7.5498	0.27790	0.1317:0.0:0.8683:0.0	.	126;126;126	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	126;124;126;126;22;126;126	ENSP00000416883:E126K;ENSP00000358842:E124K;ENSP00000358846:E126K;ENSP00000435910:E126K;ENSP00000404662:E22K;ENSP00000358844:E126K;ENSP00000241337:E126K	ENSP00000241337:E126K	E	+	1	0	GSTM2	110015447	0.001000	0.12720	0.002000	0.10522	0.058000	0.15608	1.030000	0.30153	0.605000	0.29947	0.484000	0.47621	GAA	GSTM2	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.542	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM2	HGNC	protein_coding	OTTHUMT00000032167.2	G	NM_000848		110213924	1	no_errors	ENST00000241337	ensembl	human	known	70_37	missense	SNP	0.205	A	A	110213924	G	A	110213924	3	1	117	1	0	0	0	0	1	0	0	0	6858	943	33	1	398	1	GSTM2	1	110213924	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9866732	110213924	139036697	55	17523										
KCNC4	3749	genome.wustl.edu	37	chr1	110774856	110774856	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagacaggcacattcgtcctCcgtgaccttccccttcagca	8	16	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:110774856C>T	ENST00000369787.3	+	4	1860	c.1833C>T	c.(1831-1833)ctC>ctT	p.L611L	KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	611					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CATTCGTCCTCCGTGACCTTC	0.567																																																	0													98	74	82					1																	110774856		2203	4300	6503	SO:0001819	synonymous_variant	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1833C>T	1.37:g.110774856C>T			Q3MIM4|Q5TBI6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.L611	ENST00000369787.3	37	c.1833	CCDS821.1	1																																																																																			KCNC4	-	NULL		0.567	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	HGNC	protein_coding	OTTHUMT00000052146.2	C	NM_001039574		110774856	1	no_errors	ENST00000369787	ensembl	human	known	70_37	silent	SNP	0.001	T	T	110774856	C	T	110774856	2	4	117	1	0	0	0	0	0	0	0	1	8037	842	30	1		1	KCNC4	1	110774856	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	560932	110774856	138475765	56	17524										
CHIA	27159	genome.wustl.edu	37	chr1	111854982	111854982	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgaatggaatgatgtgactCtctaccaagctttcaatggc	9	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:111854982C>G	ENST00000369740.1	+	4	329	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	CHIA_ENST00000343320.6_Missense_Mutation_p.L76V|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	76					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.L76V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.453																																																	1	Substitution - Missense(1)	urinary_tract(1)											115	110	111					1																	111854982		1957	4147	6104	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.226C>G	1.37:g.111854982C>G	ENSP00000358755:p.Leu76Val		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.L76V	ENST00000369740.1	37	c.226	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280813	0.59758	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04809	3.55;3.55	4.7	2.7	0.31948	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.52532	U	0.000066	T	0.05090	0.0136	M	0.67953	2.075	0.80722	D	1	B	0.32507	0.373	P	0.46585	0.521	T	0.13764	-1.0497	10	0.51188	T	0.08	-8.7349	7.3959	0.26936	0.0:0.7226:0.1746:0.1028	.	76	Q9BZP6	CHIA_HUMAN	V	76	ENSP00000358755:L76V;ENSP00000341828:L76V	ENSP00000341828:L76V	L	+	1	0	CHIA	111656505	0.269000	0.24143	0.909000	0.35828	0.939000	0.58152	0.916000	0.28651	0.432000	0.26286	0.655000	0.94253	CTC	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.453	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1	C			111854982	1	no_errors	ENST00000343320	ensembl	human	known	70_37	missense	SNP	0.996	G	G	111854982	C	G	111854982	3	3	117	1	0	0	0	0	1	0	0	0	3347	913	32	1	236	1	CHIA	1	111854982	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1080126	111854982	137395639	57	17525										
MAGI3	260425	genome.wustl.edu	37	chr1	114165510	114165510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcactgaaaaaaagcacaatGggatttggttttactattat	7	5	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114165510G>C	ENST00000307546.9	+	9	1329	c.1254G>C	c.(1252-1254)atG>atC	p.M418I	MAGI3_ENST00000369617.4_Missense_Mutation_p.M443I|MAGI3_ENST00000369611.4_Missense_Mutation_p.M418I|MAGI3_ENST00000369615.1_Missense_Mutation_p.M418I	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	443					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGCACAATGGGATTTGGTT	0.413																																																	0													105	98	100					1																	114165510		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1254G>C	1.37:g.114165510G>C	ENSP00000304604:p.Met418Ile		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.M418I	ENST00000307546.9	37	c.1254	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365067	0.82463	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.77	5.77	0.91146	.	0.075866	0.85682	D	0.000000	T	0.26304	0.0642	L	0.28344	0.845	0.80722	D	1	P;B;P	0.44946	0.846;0.27;0.673	P;B;P	0.54460	0.753;0.23;0.691	T	0.02115	-1.1211	10	0.59425	D	0.04	-20.6275	19.9981	0.97395	0.0:0.0:1.0:0.0	.	418;418;443	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	I	443;418;418;418	ENSP00000358630:M443I;ENSP00000304604:M418I;ENSP00000358628:M418I;ENSP00000358624:M418I	ENSP00000304604:M418I	M	+	3	0	MAGI3	113967033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.729000	0.93468	0.655000	0.94253	ATG	MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114165510	1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114165510	G	C	114165510	3	2	117	1	0	0	0	0	1	0	0	0	9215	1348	47	4	1288	4	MAGI3	1	114165510	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2310528	114165510	135085111	58	17526										
PHTF1	10745	genome.wustl.edu	37	chr1	114255982	114255982	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctggtcgacattgtctcctCttaatgataggatggacaca	9	9	3	1	rs550481729		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114255982C>G	ENST00000369604.1	-	8	1185	c.702G>C	c.(700-702)aaG>aaC	p.K234N	PHTF1_ENST00000357783.2_Missense_Mutation_p.K234N|PHTF1_ENST00000369600.1_Missense_Mutation_p.K181N|PHTF1_ENST00000369598.1_Missense_Mutation_p.K189N|PHTF1_ENST00000369596.2_Missense_Mutation_p.K181N|PHTF1_ENST00000393357.2_Missense_Mutation_p.K234N|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	234					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGTCTCCTCTTAATGATAG	0.343																																																	0													144	140	141					1																	114255982		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.702G>C	1.37:g.114255982C>G	ENSP00000358617:p.Lys234Asn		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.K234N	ENST00000369604.1	37	c.702	CCDS861.1	1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858628	0.51376	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.55	4.64	0.57946	.	0.312609	0.35436	N	0.003201	T	0.44350	0.1289	L	0.27053	0.805	0.80722	D	1	P;D;D	0.62365	0.935;0.967;0.991	P;P;D	0.63283	0.704;0.704;0.913	T	0.37056	-0.9722	9	0.39692	T	0.17	-22.718	10.5341	0.44994	0.0:0.8531:0.0:0.1469	.	189;234;234	F5H7M5;Q9UMS5;Q9UMS5-2	.;PHTF1_HUMAN;.	N	189;234;181;189;181;234;234	.	ENSP00000350428:K234N	K	-	3	2	PHTF1	114057505	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	1.763000	0.38461	2.624000	0.88883	0.467000	0.42956	AAG	PHTF1	-	NULL		0.343	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	C	NM_006608		114255982	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	missense	SNP	0.998	G	G	114255982	C	G	114255982	3	3	117	1	0	0	0	0	1	0	0	0	11886	912	32	1	1634	1	PHTF1	1	114255982	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	90472	114255982	134994639	59	17527										
BCL2L15	440603	genome.wustl.edu	37	chr1	114429234	114429234	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgaactggtcacccaacatCcgaaggcgaccagcaatgat	9	12	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114429234C>T	ENST00000393316.3	-	2	345	c.174G>A	c.(172-174)cgG>cgA	p.R58R	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Silent_p.R58R|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	58					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCCAACATCCGAAGGCGAC	0.453																																																	0													117	102	107					1																	114429234		2203	4300	6503	SO:0001819	synonymous_variant	440603				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 178"	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.174G>A	1.37:g.114429234C>T			A0PJY6|A8K074|I6LA82	Silent	SNP	NULL	p.R58	ENST00000393316.3	37	c.174	CCDS30809.1	1																																																																																			BCL2L15	-	NULL		0.453	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L15	HGNC	protein_coding	OTTHUMT00000033026.2	C	NM_001010922		114429234	-1	no_errors	ENST00000393316	ensembl	human	known	70_37	silent	SNP	0.262	T	T	114429234	C	T	114429234	2	4	117	1	0	0	0	0	0	0	0	1	1374	842	30	1		1	BCL2L15	1	114429234	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	173252	114429234	134821387	60	17528										
SLC22A15	55356	genome.wustl.edu	37	chr1	116574197	116574197	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacactttgatcctgatgttCatctggtaattatactaagg	7	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:116574197C>A	ENST00000369503.4	+	6	1069	c.939C>A	c.(937-939)ttC>ttA	p.F313L	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	313					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCTGATGTTCATCTGGTAAT	0.463																																																	0													106	106	106					1																	116574197		1920	4130	6050	SO:0001583	missense	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.939C>A	1.37:g.116574197C>A	ENSP00000358515:p.Phe313Leu		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F313L	ENST00000369503.4	37	c.939	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936520	0.73442	.	.	ENSG00000163393	ENST00000369503	T	0.72725	-0.68	4.91	4.0	0.46444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.172531	0.53938	D	0.000058	T	0.32255	0.0823	N	0.12831	0.26	0.80722	D	1	B	0.26318	0.146	B	0.33254	0.16	T	0.17077	-1.0381	10	0.13470	T	0.59	.	8.9731	0.35919	0.0:0.7728:0.1487:0.0785	.	313	Q8IZD6	S22AF_HUMAN	L	313	ENSP00000358515:F313L	ENSP00000358515:F313L	F	+	3	2	SLC22A15	116375720	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.960000	0.29253	1.288000	0.44600	0.655000	0.94253	TTC	SLC22A15	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.463	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	C	NM_018420		116574197	1	no_errors	ENST00000369503	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116574197	C	A	116574197	3	1	117	1	0	0	0	0	1	0	0	0	14476	825	29	3	961	3	SLC22A15	1	116574197	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2144963	116574197	132676424	61	17529										
PTGFRN	5738	genome.wustl.edu	37	chr1	117509651	117509651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgccacgctactctgttctCatcatggctgagaagcctgt	9	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:117509651C>T	ENST00000393203.2	+	6	1905	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	586	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTCTGTTCTCATCATGGCTG	0.483																																																	0													70	74	73					1																	117509651		2203	4300	6503	SO:0001819	synonymous_variant	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1758C>T	1.37:g.117509651C>T			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L586	ENST00000393203.2	37	c.1758	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub		0.483	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509651	1	no_errors	ENST00000393203	ensembl	human	known	70_37	silent	SNP	1.000	T	T	117509651	C	T	117509651	2	4	117	1	0	0	0	0	0	0	0	1	12778	813	29	1		1	PTGFRN	1	117509651	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	935454	117509651	131740970	62	17530										
TTF2	8458	genome.wustl.edu	37	chr1	117634490	117634490	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acactcggaggcagcagactCaccgagatccagcaccgtcc	10	16	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:117634490C>G	ENST00000369466.4	+	17	2767	c.2723C>G	c.(2722-2724)tCa>tGa	p.S908*	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	908					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCAGCAGACTCACCGAGATCC	0.522																																																	0													96	89	92					1																	117634490		2203	4300	6503	SO:0001587	stop_gained	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2723C>G	1.37:g.117634490C>G	ENSP00000358478:p.Ser908*		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S908*	ENST00000369466.4	37	c.2723	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.872275	0.97901	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.66	1.75	0.24633	.	1.246970	0.06138	N	0.671936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	1.8003	5.6199	0.17451	0.1387:0.6347:0.0:0.2267	.	.	.	.	X	908	.	ENSP00000358478:S908X	S	+	2	0	TTF2	117436013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.103000	0.15292	0.083000	0.17047	-0.140000	0.14226	TCA	TTF2	-	pfam_SNF2_N		0.522	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	C			117634490	1	no_errors	ENST00000369466	ensembl	human	known	70_37	nonsense	SNP	0.009	G	G	117634490	C	G	117634490	4	3	117	1	0	0	0	0	0	1	0	0	16750	838	29	1	2789	1	TTF2	1	117634490	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	124839	117634490	131616131	63	17531										
SPAG17	200162	genome.wustl.edu	37	chr1	118548123	118548123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgccagctcgcagctgctCacgcttttgaaaaggatagt	10	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:118548123C>G	ENST00000336338.5	-	32	4755	c.4690G>C	c.(4690-4692)Gag>Cag	p.E1564Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1564						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGCAGCTGCTCACGCTTTTGA	0.443																																																	0													129	125	126					1																	118548123		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4690G>C	1.37:g.118548123C>G	ENSP00000337804:p.Glu1564Gln		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E1564Q	ENST00000336338.5	37	c.4690	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666215	0.29604	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.22336	1.96	5.72	3.85	0.44370	.	0.665983	0.15973	N	0.235679	T	0.11793	0.0287	M	0.61703	1.905	0.09310	N	1	P	0.46512	0.879	P	0.44394	0.448	T	0.09596	-1.0667	10	0.56958	D	0.05	.	7.385	0.26878	0.0:0.6767:0.0:0.3233	.	1564	Q6Q759	SPG17_HUMAN	Q	1564;44	ENSP00000337804:E1564Q	ENSP00000337804:E1564Q	E	-	1	0	SPAG17	118349646	0.293000	0.24371	0.235000	0.24058	0.102000	0.19082	0.912000	0.28597	0.768000	0.33290	0.655000	0.94253	GAG	SPAG17	-	NULL		0.443	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118548123	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.029	G	G	118548123	C	G	118548123	3	3	117	1	0	0	0	0	1	0	0	0	15009	835	29	1	2049	1	SPAG17	1	118548123	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	913633	118548123	130702498	64	17532										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144911926	144911926	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcctctttggcagtcaatGaagtgctatcatctctggaa	8	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:144911926G>T	ENST00000369354.3	-	16	2372	c.2183C>A	c.(2182-2184)tCa>tAa	p.S728*	PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.S891*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.S728*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S794*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.S728*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.S515*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.S865*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S728*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.S891*|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.S865*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	728					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCAGTCAATGAAGTGCTATC	0.378			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													244	226	232					1																	144911926		2203	4300	6503	SO:0001587	stop_gained	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2183C>A	1.37:g.144911926G>T	ENSP00000358360:p.Ser728*		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S728*	ENST00000369354.3	37	c.2183	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.134233	0.97315	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.0248	0.71659	0.0:0.0:1.0:0.0	.	.	.	.	X	794;728;728;891;865;865;728;728;891;891;515	.	ENSP00000327209:S794X	S	-	2	0	PDE4DIP	143623283	0.015000	0.18098	0.027000	0.17364	0.289000	0.27227	1.425000	0.34859	2.624000	0.88883	0.650000	0.86243	TCA	PDE4DIP	-	NULL		0.378	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144911926	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	nonsense	SNP	0.040	T	T	144911926	G	T	144911926	4	4	117	1	0	0	0	0	0	1	0	0	11667	1294	45	3	4983	3	PDE4DIP	1	144911926	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	26363803	144911926	104338695	65	17533										
NBPF10	100132406	genome.wustl.edu	37	chr1	145304593	145304593	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgaggaagacaaagtcgactCaactctcattggctcatcct	8	11	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:145304593C>G	ENST00000369339.3	+	7	966	c.713C>G	c.(712-714)tCa>tGa	p.S238*	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Nonsense_Mutation_p.S238*|NBPF10_ENST00000342960.5_Nonsense_Mutation_p.S509*			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	509	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAGTCGACTCAACTCTCATT	0.443																																																	0																																										SO:0001587	stop_gained	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.713C>G	1.37:g.145304593C>G	ENSP00000358345:p.Ser238*		Q5RHC0|Q9NWN6	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.S509*	ENST00000369339.3	37	c.1526		1	.	.	.	.	.	.	.	.	.	.	.	37	6.423342	0.97555	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	.	.	.	0.745	-0.372	0.12520	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	3.3127	0.07022	0.0:0.6682:0.0:0.3318	.	.	.	.	X	434;238;238;509	.	ENSP00000345684:S509X	S	+	2	0	NBPF10	144015950	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.511000	0.06321	-0.142000	0.11354	0.162000	0.16502	TCA	NBPF10	-	pfam_NBPF_dom		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	C	NM_001039703		145304593	1	no_errors	ENST00000342960	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	145304593	C	G	145304593	4	3	117	1	0	0	0	0	0	1	0	0	10216	838	29	1	1564	1	NBPF10	1	145304593	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	392667	145304593	103946028	66	17534										
FMO5	2330	genome.wustl.edu	37	chr1	146658596	146658596	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttgtcatcagaggcttcctGatgcgatcatctgtggtgag	12	9	4	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:146658596G>C	ENST00000254090.4	-	9	1873	c.1485C>G	c.(1483-1485)atC>atG	p.I495M	RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	495						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAGGCTTCCTGATGCGATCAT	0.458																																																	0													104	93	97					1																	146658596		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1485C>G	1.37:g.146658596G>C	ENSP00000254090:p.Ile495Met		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.I495M	ENST00000254090.4	37	c.1485	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738507	0.49045	.	.	ENSG00000131781	ENST00000254090	T	0.55413	0.52	5.8	2.17	0.27698	.	0.115300	0.64402	D	0.000013	T	0.30665	0.0772	L	0.31526	0.94	0.80722	D	1	B	0.31227	0.314	P	0.47430	0.547	T	0.28870	-1.0030	10	0.39692	T	0.17	-13.152	3.8424	0.08920	0.2376:0.0:0.5035:0.2589	.	495	P49326	FMO5_HUMAN	M	495	ENSP00000254090:I495M	ENSP00000254090:I495M	I	-	3	3	FMO5	145125220	0.315000	0.24571	0.946000	0.38457	0.933000	0.57130	0.677000	0.25262	0.135000	0.18707	0.655000	0.94253	ATC	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase		0.458	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	G	NM_001461		146658596	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	missense	SNP	0.950	C	C	146658596	G	C	146658596	3	2	117	1	0	0	0	0	1	0	0	0	5976	1280	45	1	263	1	FMO5	1	146658596	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1354003	146658596	102592025	67	17535										
BCL9	607	genome.wustl.edu	37	chr1	147096044	147096044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctgccccaaagttcagcaGatgcagcactttgcaagcct	8	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:147096044G>C	ENST00000234739.3	+	10	4305	c.3565G>C	c.(3565-3567)Gat>Cat	p.D1189H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1189	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAGTTCAGCAGATGCAGCACT	0.632			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													35	38	37					1																	147096044		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3565G>C	1.37:g.147096044G>C	ENSP00000234739:p.Asp1189His		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.D1189H	ENST00000234739.3	37	c.3565	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253323	0.39797	.	.	ENSG00000116128	ENST00000234739	T	0.56275	0.47	5.2	5.2	0.72013	.	0.055508	0.64402	D	0.000001	T	0.38374	0.1038	N	0.22421	0.69	0.54753	D	0.999984	P;D	0.58620	0.951;0.983	P;B	0.47206	0.541;0.443	T	0.41270	-0.9518	10	0.62326	D	0.03	-9.2468	19.1136	0.93328	0.0:0.0:1.0:0.0	.	1189;1189	Q1JQ81;O00512	.;BCL9_HUMAN	H	1189	ENSP00000234739:D1189H	ENSP00000234739:D1189H	D	+	1	0	BCL9	145562668	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.174000	0.94824	2.599000	0.87857	0.655000	0.94253	GAT	BCL9	-	NULL		0.632	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147096044	1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147096044	G	C	147096044	3	2	117	1	0	0	0	0	1	0	0	0	1382	942	33	1	3591	1	BCL9	1	147096044	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	437448	147096044	102154577	68	17536										
OTUD7B	56957	genome.wustl.edu	37	chr1	149919220	149919220	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagcagatgcaatttgacctCtagggacagaattacactat	8	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:149919220C>G	ENST00000369135.4	-	11	1549	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	419	Catalytic.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AATTTGACCTCTAGGGACAGA	0.428																																																	0													99	93	95					1																	149919220		1896	4118	6014	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1255G>C	1.37:g.149919220C>G	ENSP00000358131:p.Glu419Gln		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E419Q	ENST00000369135.4	37	c.1255	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720112	0.89205	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.35236	1.32;1.35	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.51537	-0.8693	9	.	.	.	-27.2435	17.951	0.89053	0.0:1.0:0.0:0.0	.	419	Q6GQQ9	OTU7B_HUMAN	Q	419	ENSP00000358131:E419Q;ENSP00000408231:E419Q	.	E	-	1	0	OTUD7B	148185844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.285000	0.78660	2.722000	0.93159	0.557000	0.71058	GAG	OTUD7B	-	NULL		0.428	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	C	NM_020205		149919220	-1	no_errors	ENST00000369135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149919220	C	G	149919220	3	3	117	1	0	0	0	0	1	0	0	0	11343	922	32	1	1284	1	OTUD7B	1	149919220	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2823176	149919220	99331401	69	17537										
CTSS	1520	genome.wustl.edu	37	chr1	150705599	150705599	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgccatccgaatatatccttCttcaccaaagttgtggcccc	6	14	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:150705599C>G	ENST00000368985.3	-	8	1179	c.919G>C	c.(919-921)Gaa>Caa	p.E307Q	CTSS_ENST00000448301.2_Missense_Mutation_p.E257Q	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	307					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATATATCCTTCTTCACCAAAG	0.338																																																	0													90	93	92					1																	150705599		2203	4299	6502	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.919G>C	1.37:g.150705599C>G	ENSP00000357981:p.Glu307Gln		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E307Q	ENST00000368985.3	37	c.919	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	C	5.102	0.204480	0.09704	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97553	-4.43;1.97	5.77	-2.09	0.07232	Peptidase C1A, papain C-terminal (2);	0.890365	0.10115	N	0.714219	T	0.80555	0.4645	N	0.03177	-0.4	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.72683	-0.4219	10	0.15499	T	0.54	.	12.0881	0.53708	0.0:0.0958:0.3919:0.5123	.	257;307	B4DWC9;P25774	.;CATS_HUMAN	Q	257;307	ENSP00000408414:E257Q;ENSP00000357981:E307Q	ENSP00000357981:E307Q	E	-	1	0	CTSS	148972223	0.001000	0.12720	0.029000	0.17559	0.718000	0.41266	-0.516000	0.06282	-0.162000	0.10964	-1.596000	0.00833	GAA	CTSS	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.338	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	C	NM_004079		150705599	-1	no_errors	ENST00000368985	ensembl	human	known	70_37	missense	SNP	0.010	G	G	150705599	C	G	150705599	3	3	117	1	0	0	0	0	1	0	0	0	4046	922	32	1	80	1	CTSS	1	150705599	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	786379	150705599	98545022	70	17538										
SEMA6C	10500	genome.wustl.edu	37	chr1	151106454	151106454	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accccgagtgtgaactccaaGagtggaagactggggccggg	16	10	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151106454G>C	ENST00000341697.3	-	18	3451				RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C						axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAACTCCAAGAGTGGAAGAC	0.617																																																	0																																										SO:0001627	intron_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1759+422C>G	1.37:g.151106454G>C			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.L613V	ENST00000341697.3	37	c.1837	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295421	0.40594	.	.	ENSG00000143434	ENST00000368912;ENST00000368913	T;T	0.43294	0.95;0.95	4.64	3.72	0.42706	.	0.896444	0.09379	N	0.810298	T	0.42630	0.1211	.	.	.	0.80722	D	1	D;P	0.56035	0.974;0.838	D;B	0.70487	0.969;0.331	T	0.37197	-0.9716	9	0.17369	T	0.5	.	10.289	0.43584	0.0:0.0:0.8032:0.1968	.	573;613	Q9H3T2-2;Q9H3T2-3	.;.	V	573;613	ENSP00000357908:L573V;ENSP00000357909:L613V	ENSP00000357908:L573V	L	-	1	0	SEMA6C	149373078	0.990000	0.36364	1.000000	0.80357	0.986000	0.74619	0.683000	0.25349	1.293000	0.44690	0.561000	0.74099	CTT	SEMA6C	-	NULL		0.617	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	G	NM_030913		151106454	-1	no_errors	ENST00000368913	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151106454	G	C	151106454	1	2	117	0	1	0	0	0	0	0	0	0	14071	942	33	1		1	SEMA6C	1	151106454	Intron	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	400855	151106454	98144167	71	17539										
PSMD4	5710	genome.wustl.edu	37	chr1	151234722	151234722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgctgtcaacatagtttgtCattcaaagacccgcagcaac	7	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151234722C>T	ENST00000368884.3	+	2	192	c.112C>T	c.(112-114)Cat>Tat	p.H38Y	PSMD4_ENST00000368881.4_Missense_Mutation_p.H38Y	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	38	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATAGTTTGTCATTCAAAGAC	0.527																																																	0													129	118	122					1																	151234722		2203	4300	6503	SO:0001583	missense	5710			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.112C>T	1.37:g.151234722C>T	ENSP00000357879:p.His38Tyr		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A	p.H38Y	ENST00000368884.3	37	c.112	CCDS991.1	1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711600	0.68730	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.13778	2.56;2.56;2.56	4.35	4.35	0.52113	Ssl1-like (1);von Willebrand factor, type A (2);	0.207947	0.38605	N	0.001636	T	0.14830	0.0358	M	0.62723	1.935	0.49687	D	0.999818	P;P	0.38300	0.626;0.626	P;P	0.46419	0.516;0.516	T	0.00804	-1.1559	10	0.62326	D	0.03	-9.2896	13.9142	0.63887	0.0:1.0:0.0:0.0	.	38;38	Q5VWC4;P55036	.;PSMD4_HUMAN	Y	38;38;23	ENSP00000357879:H38Y;ENSP00000357876:H38Y;ENSP00000414499:H23Y	ENSP00000357876:H38Y	H	+	1	0	PSMD4	149501346	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.112000	0.77086	2.256000	0.74724	0.484000	0.47621	CAT	PSMD4	-	pfam_Ssl1-like,smart_VWF_A,pfscan_VWF_A		0.527	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD4	HGNC	protein_coding	OTTHUMT00000034409.3	C	NM_002810		151234722	1	no_errors	ENST00000368884	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151234722	C	T	151234722	3	4	117	1	0	0	0	0	1	0	0	0	12727	826	29	1	118	1	PSMD4	1	151234722	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	128268	151234722	98015899	72	17540										
TUFT1	7286	genome.wustl.edu	37	chr1	151536388	151536388	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcttatttcaggtgtacttGaaggggaggtctggagacaa	13	5	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151536388G>C	ENST00000368849.3	+	4	308	c.246G>C	c.(244-246)ttG>ttC	p.L82F	TUFT1_ENST00000538902.1_Missense_Mutation_p.L101F|TUFT1_ENST00000353024.3_Missense_Mutation_p.L23F|TUFT1_ENST00000392712.3_Missense_Mutation_p.L57F|TUFT1_ENST00000368848.2_Missense_Mutation_p.L57F|RP11-74C1.4_ENST00000434112.1_RNA	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	82					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGTACTTGAAGGGGAGGT	0.423																																																	0													134	123	126					1																	151536388		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.246G>C	1.37:g.151536388G>C	ENSP00000357842:p.Leu82Phe		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.L101F	ENST00000368849.3	37	c.303	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618947	0.66787	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T;T	0.43688	1.36;0.94;1.38;1.48;1.3	5.25	4.28	0.50868	.	0.000000	0.64402	D	0.000004	T	0.54143	0.1840	M	0.73598	2.24	0.47214	D	0.999355	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.57871	-0.7736	10	0.66056	D	0.02	-7.5676	10.9988	0.47593	0.0:0.1884:0.8116:0.0	.	101;57;82	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	F	82;57;23;57;57;101;57	ENSP00000357842:L82F;ENSP00000376476:L57F;ENSP00000343781:L23F;ENSP00000357841:L57F;ENSP00000437997:L101F	ENSP00000343781:L23F	L	+	3	2	TUFT1	149803012	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.854000	0.27791	2.457000	0.83068	0.563000	0.77884	TTG	TUFT1	-	NULL		0.423	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151536388	1	no_errors	ENST00000538902	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151536388	G	C	151536388	3	2	117	1	0	0	0	0	1	0	0	0	16803	1281	45	1	260	1	TUFT1	1	151536388	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	301666	151536388	97714233	73	17541										
TCHH	7062	genome.wustl.edu	37	chr1	152082912	152082912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttcctcgcggtattgtctCtcctgttcttggcgccttct	8	14	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:152082912C>G	ENST00000368804.1	-	2	2780	c.2781G>C	c.(2779-2781)gaG>gaC	p.E927D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	927	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTATTGTCTCTCCTGTTCTT	0.577																																																	0													141	149	146					1																	152082912		2079	4217	6296	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2781G>C	1.37:g.152082912C>G	ENSP00000357794:p.Glu927Asp		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E927D	ENST00000368804.1	37	c.2781	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	8.235	0.805554	0.16467	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	3.23	-4.42	0.03579	.	.	.	.	.	T	0.01189	0.0039	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.48703	-0.9012	9	0.27082	T	0.32	-0.5353	8.4825	0.33052	0.0:0.3505:0.5376:0.1118	.	927	Q07283	TRHY_HUMAN	D	927	ENSP00000357794:E927D	ENSP00000357794:E927D	E	-	3	2	TCHH	150349536	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.078000	0.00615	-0.107000	0.12088	-0.519000	0.04390	GAG	TCHH	-	NULL		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152082912	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.000	G	G	152082912	C	G	152082912	3	3	117	1	0	0	0	0	1	0	0	0	15730	912	32	1	3054	1	TCHH	1	152082912	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	546524	152082912	97167709	74	17542										
HRNR	388697	genome.wustl.edu	37	chr1	152188560	152188560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaccaaccggagccagaccCatgttggccgtagctggaag	13	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:152188560C>T	ENST00000368801.2	-	3	5620	c.5545G>A	c.(5545-5547)Ggg>Agg	p.G1849R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1849					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCATGTTGGCCG	0.597																																																	0													28	48	42					1																	152188560		2096	4255	6351	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5545G>A	1.37:g.152188560C>T	ENSP00000357791:p.Gly1849Arg		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G1849R	ENST00000368801.2	37	c.5545	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085960	0.08583	.	.	ENSG00000197915	ENST00000368801	T	0.21191	2.02	2.26	0.226	0.15353	.	.	.	.	.	T	0.06554	0.0168	M	0.67397	2.05	0.09310	N	1	B	0.30406	0.278	B	0.29267	0.1	T	0.37056	-0.9722	9	0.23302	T	0.38	.	3.5515	0.07848	0.0:0.5718:0.265:0.1633	.	1849	Q86YZ3	HORN_HUMAN	R	1849	ENSP00000357791:G1849R	ENSP00000357791:G1849R	G	-	1	0	HRNR	150455184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	0.068000	0.16574	-0.190000	0.12839	GGG	HRNR	-	NULL		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188560	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152188560	C	T	152188560	3	4	117	1	0	0	0	0	1	0	0	0	7379	594	21	4	3011	4	HRNR	1	152188560	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	105648	152188560	97062061	75	17543										
ILF2	3608	genome.wustl.edu	37	chr1	153637792	153637792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actgatttcaaagccagtttCgttggtcagcatggttaaaa	9	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:153637792C>T	ENST00000361891.4	-	8	606	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	ILF2_ENST00000480213.1_5'Flank	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	161	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCCAGTTTCGTTGGTCAGC	0.383																																																	0													89	87	88					1																	153637792		2203	4300	6503	SO:0001583	missense	3608			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.481G>A	1.37:g.153637792C>T	ENSP00000355011:p.Glu161Lys		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.E161K	ENST00000361891.4	37	c.481	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.137904	0.94517	.	.	ENSG00000143621	ENST00000361891	T	0.52295	0.67	5.79	5.79	0.91817	DZF (2);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.82517	2.595	0.80722	D	1	P;P	0.47350	0.87;0.894	B;B	0.42593	0.272;0.392	T	0.59621	-0.7420	10	0.66056	D	0.02	-10.3132	17.535	0.87827	0.0:1.0:0.0:0.0	.	161;161	F4ZW62;Q12905	.;ILF2_HUMAN	K	161	ENSP00000355011:E161K	ENSP00000355011:E161K	E	-	1	0	ILF2	151904416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.656000	0.74396	2.739000	0.93911	0.655000	0.94253	GAA	ILF2	-	pfam_DZF,smart_DZF		0.383	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	C	NM_004515		153637792	-1	no_errors	ENST00000361891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153637792	C	T	153637792	3	4	117	1	0	0	0	0	1	0	0	0	7731	893	31	1	719	1	ILF2	1	153637792	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1449232	153637792	95612829	76	17544										
NPR1	4881	genome.wustl.edu	37	chr1	153665889	153665889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggagtagcacccgaggctGacctgcctcctctcctatcc	11	16	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:153665889G>A	ENST00000368680.3	+	22	3657	c.3185G>A	c.(3184-3186)tGa>tAa	p.*1062*		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	0					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACCCGAGGCTGACCTGCCTCC	0.622																																					Pancreas(141;1349 1870 15144 15830 40702)												0													59	59	59					1																	153665889		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3185G>A	1.37:g.153665889G>A			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.*1062	ENST00000368680.3	37	c.3185	CCDS1051.1	1																																																																																			NPR1	-	NULL		0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153665889	1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153665889	G	A	153665889	2	1	117	1	0	0	0	0	0	0	0	1	10618	1285	45	1		1	NPR1	1	153665889	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	28097	153665889	95584732	77	17545										
NUP210L	91181	genome.wustl.edu	37	chr1	154031136	154031136	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaacaaagatcatagacctCcaaggtaaaaaatccaggat	6	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:154031136C>A	ENST00000368559.3	-	21	2955	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.E962*|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	962					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCATAGACCTCCAAGGTAAAA	0.428																																																	0													90	81	84					1																	154031136		1837	4092	5929	SO:0001587	stop_gained	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2884G>T	1.37:g.154031136C>A	ENSP00000357547:p.Glu962*		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.E962*	ENST00000368559.3	37	c.2884	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.849918	0.97885	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.44	3.51	0.40186	.	0.135069	0.33959	N	0.004391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-24.0406	10.0465	0.42190	0.0:0.9022:0.0:0.0978	.	.	.	.	X	962	.	ENSP00000271854:E962X	E	-	1	0	NUP210L	152297760	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.630000	0.46494	1.056000	0.40484	0.591000	0.81541	GAG	NUP210L	-	NULL		0.428	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154031136	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	154031136	C	A	154031136	4	1	117	1	0	0	0	0	0	1	0	0	10785	864	30	3	2862	3	NUP210L	1	154031136	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	365247	154031136	95219485	78	17546										
UBE2Q1	55585	genome.wustl.edu	37	chr1	154523423	154523423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccagcctcaccgtttttttCgtggatctgcaccaaggact	8	13	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:154523423C>T	ENST00000292211.4	-	12	1307	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	410					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTTTTTTCGTGGATCTGC	0.537																																																	0													214	203	207					1																	154523423		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1228G>A	1.37:g.154523423C>T	ENSP00000292211:p.Glu410Lys		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E410K	ENST00000292211.4	37	c.1228	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533028	0.85812	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.51	4.61	0.57282	Ubiquitin-conjugating enzyme/RWD-like (1);	0.168050	0.51477	N	0.000096	T	0.43389	0.1245	M	0.78223	2.4	0.46044	D	0.998839	P	0.47106	0.89	B	0.36845	0.234	T	0.57745	-0.7758	9	0.87932	D	0	-9.2513	12.0885	0.53710	0.0:0.918:0.0:0.082	.	410	Q7Z7E8	UB2Q1_HUMAN	K	410	.	ENSP00000292211:E410K	E	-	1	0	UBE2Q1	152790047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	1.576000	0.49790	0.561000	0.74099	GAA	UBE2Q1	-	NULL		0.537	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	C	NM_017582		154523423	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154523423	C	T	154523423	3	4	117	1	0	0	0	0	1	0	0	0	16900	893	31	1	48	1	UBE2Q1	1	154523423	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	492287	154523423	94727198	79	17547										
UBE2Q1	55585	genome.wustl.edu	37	chr1	154525569	154525569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatggccaagttttcttttCcaatgccatcatcttcagat	7	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:154525569C>T	ENST00000292211.4	-	5	747	c.668G>A	c.(667-669)gGa>gAa	p.G223E	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	223					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTTTCTTTTCCAATGCCATC	0.453																																																	0													158	153	155					1																	154525569		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.668G>A	1.37:g.154525569C>T	ENSP00000292211:p.Gly223Glu		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G223E	ENST00000292211.4	37	c.668	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434690	0.12045	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.51	5.51	0.81932	.	0.058194	0.64402	D	0.000002	T	0.04543	0.0124	N	0.00246	-1.78	0.46874	D	0.999236	B	0.02656	0.0	B	0.04013	0.001	T	0.46148	-0.9212	9	0.02654	T	1	-10.364	11.5555	0.50745	0.0:0.919:0.0:0.081	.	223	Q7Z7E8	UB2Q1_HUMAN	E	223	.	ENSP00000292211:G223E	G	-	2	0	UBE2Q1	152792193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.932000	0.56537	2.873000	0.98535	0.561000	0.74099	GGA	UBE2Q1	-	NULL		0.453	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	C	NM_017582		154525569	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154525569	C	T	154525569	3	4	117	1	0	0	0	0	1	0	0	0	16900	855	30	1	636	1	UBE2Q1	1	154525569	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2146	154525569	94725052	80	17548										
DCST2	127579	genome.wustl.edu	37	chr1	155005216	155005216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccacctctttggtcttccgGgcaatagctttaatcttgtt	8	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155005216G>A	ENST00000368424.3	-	3	526	c.468C>T	c.(466-468)gcC>gcT	p.A156A	DCST1_ENST00000423025.2_5'Flank|DCST2_ENST00000295536.5_Silent_p.A156A|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000368419.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	156						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTCTTCCGGGCAATAGCTT	0.517																																																	0													88	83	84					1																	155005216		2203	4300	6503	SO:0001819	synonymous_variant	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.468C>T	1.37:g.155005216G>A			Q2M2R2|Q8N810|Q96M03	Silent	SNP	pfam_DC_STAMP-like	p.A156	ENST00000368424.3	37	c.468	CCDS1082.2	1																																																																																			DCST2	-	NULL		0.517	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	G	NM_144622		155005216	-1	no_errors	ENST00000368424	ensembl	human	known	70_37	silent	SNP	0.474	A	A	155005216	G	A	155005216	2	1	117	1	0	0	0	0	0	0	0	1	4308	1219	43	4		4	DCST2	1	155005216	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	479647	155005216	94245405	81	17549										
YY1AP1	55249	genome.wustl.edu	37	chr1	155644834	155644834	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgctactggcctccggattGagattggggttgcaggtggc	17	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155644834G>C	ENST00000295566.4	-	6	599	c.576C>G	c.(574-576)ctC>ctG	p.L192L	YY1AP1_ENST00000368340.5_Silent_p.L264L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Silent_p.L126L|YY1AP1_ENST00000368330.2_Silent_p.L126L|YY1AP1_ENST00000361831.5_Silent_p.L115L|YY1AP1_ENST00000405763.3_Silent_p.L264L|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000404643.1_Silent_p.L126L|YY1AP1_ENST00000311573.5_Silent_p.L115L|YY1AP1_ENST00000407221.1_Silent_p.L115L|YY1AP1_ENST00000355499.4_Silent_p.L126L|YY1AP1_ENST00000347088.5_Silent_p.L126L|YY1AP1_ENST00000476093.1_5'UTR|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Silent_p.L115L|YY1AP1_ENST00000368339.5_Silent_p.L264L	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	192					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTCCGGATTGAGATTGGGGT	0.418																																																	0													111	111	111					1																	155644834		2203	4300	6503	SO:0001819	synonymous_variant	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.576C>G	1.37:g.155644834G>C			B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	NULL	p.L264	ENST00000295566.4	37	c.792	CCDS1115.1	1																																																																																			YY1AP1	-	NULL		0.418	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	G	NM_139118		155644834	-1	no_errors	ENST00000368339	ensembl	human	known	70_37	silent	SNP	0.868	C	C	155644834	G	C	155644834	2	2	117	1	0	0	0	0	0	0	0	1	17539	1277	45	1		1	YY1AP1	1	155644834	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	639618	155644834	93605787	82	17550										
RIT1	6016	genome.wustl.edu	37	chr1	155880451	155880451	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaaaatgttacctaccactCttccctacaccaccagcacc	4	17	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155880451C>G	ENST00000368323.3	-	2	306	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RIT1_ENST00000368322.3_Missense_Mutation_p.K51N|RIT1_ENST00000539040.1_Intron	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	34					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ACCTACCACTCTTCCCTACAC	0.463																																																	0													147	150	149					1																	155880451		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.102G>C	1.37:g.155880451C>G	ENSP00000357306:p.Lys34Asn		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K34N	ENST00000368323.3	37	c.102	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802052	0.90538	.	.	ENSG00000143622	ENST00000368323;ENST00000368322	D;D	0.96913	-4.17;-4.17	4.7	-3.71	0.04424	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000004	D	0.98346	0.9451	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98808	1.0742	10	0.87932	D	0	.	14.037	0.64651	0.0:0.7541:0.0:0.2459	.	34	Q92963	RIT1_HUMAN	N	34;51	ENSP00000357306:K34N;ENSP00000357305:K51N	ENSP00000357305:K51N	K	-	3	2	RIT1	154147075	0.764000	0.28473	0.623000	0.29173	0.590000	0.36582	-0.599000	0.05700	-0.550000	0.06183	0.555000	0.69702	AAG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.463	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155880451	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	0.910	G	G	155880451	C	G	155880451	3	3	117	1	0	0	0	0	1	0	0	0	13416	912	32	1	577	1	RIT1	1	155880451	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	235617	155880451	93370170	83	17551										
SSR2	6746	genome.wustl.edu	37	chr1	155988069	155988069	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaagaggatacggggcaatCcggtcccatttgacattgag	12	10	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155988069C>T	ENST00000295702.4	-	3	317	c.246G>A	c.(244-246)cgG>cgA	p.R82R	SSR2_ENST00000480567.1_Silent_p.R82R|SSR2_ENST00000529008.1_Silent_p.R82R|SSR2_ENST00000496742.1_Intron	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	82					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACGGGGCAATCCGGTCCCATT	0.507																																																	0													95	85	88					1																	155988069		2203	4300	6503	SO:0001819	synonymous_variant	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.246G>A	1.37:g.155988069C>T			B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.R82	ENST00000295702.4	37	c.246	CCDS1126.1	1																																																																																			SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta		0.507	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155988069	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	silent	SNP	0.960	T	T	155988069	C	T	155988069	2	4	117	1	0	0	0	0	0	0	0	1	15221	842	30	1		1	SSR2	1	155988069	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	107618	155988069	93262552	84	17552										
OR10R2	343406	genome.wustl.edu	37	chr1	158449973	158449973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcattctacccaagatgctCatcaatctactttctgtggc	6	12	6	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:158449973C>T	ENST00000368152.1	+	1	306	c.306C>T	c.(304-306)ctC>ctT	p.L102L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCAAGATGCTCATCAATCTAC	0.443																																																	0													335	286	303					1																	158449973		2203	4300	6503	SO:0001819	synonymous_variant	343406			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.306C>T	1.37:g.158449973C>T			Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L102	ENST00000368152.1	37	c.306	CCDS30898.1	1																																																																																			OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	C	NM_001004472		158449973	1	no_errors	ENST00000368152	ensembl	human	known	70_37	silent	SNP	0.003	T	T	158449973	C	T	158449973	2	4	117	1	0	0	0	0	0	0	0	1	10941	813	29	1		1	OR10R2	1	158449973	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2461904	158449973	90800648	85	17553										
SPTA1	6708	genome.wustl.edu	37	chr1	158596788	158596788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctttgttctgactttcctCctgcaacacctgtgagaagg	8	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:158596788C>T	ENST00000368147.4	-	41	5854	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1892					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACTTTCCTCCTGCAACACC	0.428																																																	0													107	106	107					1																	158596788		1842	4089	5931	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5674G>A	1.37:g.158596788C>T	ENSP00000357129:p.Glu1892Lys		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E1892K	ENST00000368147.4	37	c.5674	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796164	0.31777	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	1.41;0.8	4.87	4.87	0.63330	.	.	.	.	.	T	0.10337	0.0253	N	0.04636	-0.2	0.36518	D	0.870015	B	0.12013	0.005	B	0.15484	0.013	T	0.16837	-1.0389	9	0.15066	T	0.55	.	9.0136	0.36157	0.0:0.9029:0.0:0.0971	.	1892	P02549	SPTA1_HUMAN	K	1892;1889	ENSP00000357130:E1892K;ENSP00000357129:E1889K	ENSP00000357129:E1889K	E	-	1	0	SPTA1	156863412	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	1.991000	0.40727	2.526000	0.85167	0.563000	0.77884	GAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	C	NM_003126		158596788	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158596788	C	T	158596788	3	4	117	1	0	0	0	0	1	0	0	0	15146	864	30	1	1633	1	SPTA1	1	158596788	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	146815	158596788	90653833	86	17554										
OR10J5	127385	genome.wustl.edu	37	chr1	159505756	159505756	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaaagctagaaaatcccaaGaaaatgaattctgacacttc	5	10	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:159505756G>A	ENST00000334857.2	-	1	86	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAAATCCCAAGAAAATGAATT	0.363																																																	0													69	69	69					1																	159505756		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.42C>T	1.37:g.159505756G>A			B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F14	ENST00000334857.2	37	c.42	CCDS30910.1	1																																																																																			OR10J5	-	NULL		0.363	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	G	NM_001004469		159505756	-1	no_errors	ENST00000334857	ensembl	human	known	70_37	silent	SNP	0.619	A	A	159505756	G	A	159505756	2	1	117	1	0	0	0	0	0	0	0	1	10936	933	33	1		1	OR10J5	1	159505756	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	908968	159505756	89744865	87	17555										
ATP1A2	477	genome.wustl.edu	37	chr1	160093844	160093844	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttcaagaacatggtacctCaggtaagatggcagggctgg	13	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:160093844C>A	ENST00000361216.3	+	5	582	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q165K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	165					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATGGTACCTCAGGTAAGATG	0.527																																																	0													79	72	74					1																	160093844		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.493C>A	1.37:g.160093844C>A	ENSP00000354490:p.Gln165Lys		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.Q165K	ENST00000361216.3	37	c.493	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.89939	-2.59;-2.59	4.56	4.56	0.56223	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.057994	0.64402	D	0.000001	D	0.82921	0.5142	L	0.58302	1.8	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15484	0.005;0.013	T	0.82250	-0.0550	10	0.59425	D	0.04	.	16.2498	0.82475	0.0:1.0:0.0:0.0	.	10;165	B4DHD7;P50993	.;AT1A2_HUMAN	K	10;165;165	ENSP00000354490:Q165K;ENSP00000376066:Q165K	ENSP00000354490:Q165K	Q	+	1	0	ATP1A2	158360468	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.461000	0.80834	2.377000	0.81083	0.561000	0.74099	CAG	ATP1A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	C	NM_000702		160093844	1	no_errors	ENST00000361216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160093844	C	A	160093844	3	1	117	1	0	0	0	0	1	0	0	0	1130	827	29	3	511	3	ATP1A2	1	160093844	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	588088	160093844	89156777	88	17556										
ATP1A2	477	genome.wustl.edu	37	chr1	160106421	160106421	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcctggcagagaacggtttCctgccatcacggctactggg	12	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:160106421C>G	ENST00000361216.3	+	19	2714	c.2625C>G	c.(2623-2625)ttC>ttG	p.F875L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.F875L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	875					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACGGTTTCCTGCCATCAC	0.582																																																	0													112	98	103					1																	160106421		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2625C>G	1.37:g.160106421C>G	ENSP00000354490:p.Phe875Leu		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.F875L	ENST00000361216.3	37	c.2625	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293509|4.293509	0.80914|0.80914	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.88741|.	-2.42;-2.42|.	4.71|4.71	0.642|0.642	0.17765|0.17765	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72851|0.72851	0.3512|0.3512	H|H	0.94222|0.94222	3.51|3.51	0.53688|0.53688	D|D	0.999975|0.999975	B;D|.	0.89917|.	0.166;1.0|.	B;D|.	0.91635|.	0.148;0.999|.	T|T	0.75354|0.75354	-0.3347|-0.3347	10|5	0.87932|.	D|.	0|.	.|.	8.4901|8.4901	0.33095|0.33095	0.0:0.6602:0.0:0.3398|0.0:0.6602:0.0:0.3398	.|.	775;875|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	L|C	875;875;578|569	ENSP00000354490:F875L;ENSP00000376066:F875L|.	ENSP00000354490:F875L|.	F|S	+|+	3|2	2|0	ATP1A2|ATP1A2	158373045|158373045	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.989000|0.989000	0.77384|0.77384	2.008000|2.008000	0.40893|0.40893	0.029000|0.029000	0.15352|0.15352	0.561000|0.561000	0.74099|0.74099	TTC|TCC	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	C	NM_000702		160106421	1	no_errors	ENST00000361216	ensembl	human	known	70_37	missense	SNP	1.000	G	G	160106421	C	G	160106421	3	3	117	1	0	0	0	0	1	0	0	0	1130	854	30	1	2699	1	ATP1A2	1	160106421	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	12577	160106421	89144200	89	17557										
KLHDC9	126823	genome.wustl.edu	37	chr1	161069237	161069237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcatcagctattgctctttgGaggttgcaacttagctgaac	9	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161069237G>A	ENST00000368011.4	+	2	771	c.629G>A	c.(628-630)gGa>gAa	p.G210E	PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_Missense_Mutation_p.G210E	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	210										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTGCTCTTTGGAGGTTGCAAC	0.512																																																	0													98	97	98					1																	161069237		2203	4300	6503	SO:0001583	missense	126823			BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.629G>A	1.37:g.161069237G>A	ENSP00000356990:p.Gly210Glu		Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	superfamily_Gal_Oxase/kelch_b-propeller	p.G210E	ENST00000368011.4	37	c.629	CCDS30919.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131062	0.56828	.	.	ENSG00000162755	ENST00000368011;ENST00000392192	D;D	0.90197	-2.63;-1.85	4.47	4.47	0.54385	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000019	D	0.93949	0.8063	M	0.73598	2.24	0.41518	D	0.988382	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94668	0.7854	10	0.87932	D	0	-26.2099	14.7006	0.69154	0.0:0.0:1.0:0.0	.	210;210	Q8NEP7-2;Q8NEP7	.;KLDC9_HUMAN	E	210	ENSP00000356990:G210E;ENSP00000376030:G210E	ENSP00000356990:G210E	G	+	2	0	KLHDC9	159335861	1.000000	0.71417	0.999000	0.59377	0.495000	0.33615	5.151000	0.64875	2.317000	0.78254	0.655000	0.94253	GGA	KLHDC9	-	superfamily_Gal_Oxase/kelch_b-propeller		0.512	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC9	HGNC	protein_coding	OTTHUMT00000077092.1	G	NM_152366		161069237	1	no_errors	ENST00000368011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161069237	G	A	161069237	3	1	117	1	0	0	0	0	1	0	0	0	8384	1174	41	1	635	1	KLHDC9	1	161069237	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	962816	161069237	88181384	90	17558										
SDHC	6391	genome.wustl.edu	37	chr1	161326588	161326588	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagctaagtttgcacttgtCttccctctcatgtatcatac	5	12	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161326588C>T	ENST00000367975.2	+	5	512	c.363C>T	c.(361-363)gtC>gtT	p.V121V	SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000392169.2_Silent_p.V68V|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Silent_p.V87V	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	121					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTGCACTTGTCTTCCCTCTCA	0.498			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1q21	6391	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"		O	0													172	161	165					1																	161326588		2203	4300	6503	SO:0001819	synonymous_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.363C>T	1.37:g.161326588C>T			O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Silent	SNP	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556	p.V121	ENST00000367975.2	37	c.363	CCDS1230.1	1																																																																																			SDHC	-	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556		0.498	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHC	HGNC	protein_coding	OTTHUMT00000083316.2	C	NM_003001		161326588	1	no_errors	ENST00000367975	ensembl	human	known	70_37	silent	SNP	0.921	T	T	161326588	C	T	161326588	2	4	117	1	0	0	0	0	0	0	0	1	13996	900	32	1		1	SDHC	1	161326588	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	257351	161326588	87924033	91	17559										
HSPA6	3310	genome.wustl.edu	37	chr1	161495957	161495957	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acaggtaaggctaacaagatCaccatcaccaatgacaaggg	9	10	2	2	rs41299258	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161495957C>T	ENST00000309758.4	+	1	1922	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	503					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTAACAAGATCACCATCACCA	0.547																																																	0													81	64	70					1																	161495957		2203	4300	6503	SO:0001819	synonymous_variant	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1509C>T	1.37:g.161495957C>T			Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I503	ENST00000309758.4	37	c.1509	CCDS1231.1	1																																																																																			HSPA6	-	pfam_Hsp_70_fam		0.547	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	C	NM_002155		161495957	1	no_errors	ENST00000309758	ensembl	human	known	70_37	silent	SNP	1.000	T	T	161495957	C	T	161495957	2	4	117	1	0	0	0	0	0	0	0	1	7435	816	29	1		1	HSPA6	1	161495957	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	169369	161495957	87754664	92	17560										
RGS4	5999	genome.wustl.edu	37	chr1	163044339	163044339	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actgtgcttccctggtccctCagtgtgcctaattctcacct	7	15	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:163044339C>T	ENST00000367909.6	+	5	947	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367906.3_Nonsense_Mutation_p.Q185*|RGS4_ENST00000527809.1_Nonsense_Mutation_p.Q185*|RGS4_ENST00000421743.2_Nonsense_Mutation_p.Q300*|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Intron	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	203					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTGGTCCCTCAGTGTGCCTA	0.488																																					Ovarian(76;1257 1738 3039 6086)												0													105	112	110					1																	163044339		2203	4300	6503	SO:0001587	stop_gained	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.607C>T	1.37:g.163044339C>T	ENSP00000356885:p.Gln203*		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q300*	ENST00000367909.6	37	c.898	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.640552	0.97726	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	.	.	.	5.11	4.19	0.49359	.	2.691420	0.00763	N	0.001144	.	.	.	.	.	.	0.33170	D	0.548129	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.3712	0.60713	0.0:0.8408:0.1592:0.0	.	.	.	.	X	300;203;185;185	.	ENSP00000356882:Q185X	Q	+	1	0	RGS4	161310963	0.973000	0.33851	0.997000	0.53966	0.929000	0.56500	3.212000	0.51145	1.350000	0.45770	0.655000	0.94253	CAG	RGS4	-	NULL		0.488	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	C	NM_005613		163044339	1	no_errors	ENST00000421743	ensembl	human	known	70_37	nonsense	SNP	0.926	T	T	163044339	C	T	163044339	4	4	117	1	0	0	0	0	0	1	0	0	13337	827	29	1	920	1	RGS4	1	163044339	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1548382	163044339	86206282	93	17561										
TMCO1	54499	genome.wustl.edu	37	chr1	165697359	165697359	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgagaatcttctgaatgttCtgtgaagaaagcacagtaag	10	7	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:165697359C>T	ENST00000392129.6	-	7	619		c.e7-1		TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCTGAATGTTCTGTGAAGAAA	0.448																																																	0													100	110	107					1																	165697359		2203	4300	6503	SO:0001630	splice_region_variant	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.469-1G>A	1.37:g.165697359C>T			B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	SNP	-	e7-1	ENST00000392129.6	37	c.622-1		1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234310	0.58886	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.31	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9181	0.52778	0.0:0.6621:0.3379:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMCO1	163963983	1.000000	0.71417	0.967000	0.41034	0.861000	0.49209	5.673000	0.68109	0.765000	0.33221	0.563000	0.77884	.	TMCO1	-	-		0.448	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	C	NM_019026	Intron	165697359	-1	no_errors	ENST00000367881	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	165697359	C	T	165697359	5	4	117	1	0	0	0	0	0	0	1	0	16025	927	32	1	102	1	TMCO1	1	165697359	Splice_Site	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2653020	165697359	83553262	94	17562										
TMCO1	54499	genome.wustl.edu	37	chr1	165728791	165728791	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttctgttgtcgaccagctGactctgttattgtttccttc	7	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:165728791G>A	ENST00000392129.6	-	3	329	c.179C>T	c.(178-180)tCa>tTa	p.S60L	TMCO1_ENST00000367881.5_Missense_Mutation_p.S111L|TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	60						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCGACCAGCTGACTCTGTTAT	0.279																																																	0													102	101	101					1																	165728791		2203	4299	6502	SO:0001583	missense	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.179C>T	1.37:g.165728791G>A	ENSP00000375975:p.Ser60Leu		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	pfam_DUF106_TM	p.S111L	ENST00000392129.6	37	c.332		1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459235	0.63401	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.64567	1.98	0.54753	D	0.999982	B;B	0.29270	0.24;0.005	B;B	0.35727	0.209;0.01	T	0.63341	-0.6659	8	0.66056	D	0.02	.	15.8484	0.78907	0.0:0.0:1.0:0.0	.	48;60	B7Z591;Q9UM00	.;TMCO1_HUMAN	L	60	.	ENSP00000356856:S60L	S	-	2	0	TMCO1	163995415	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.798000	0.75155	2.315000	0.78130	0.462000	0.41574	TCA	TMCO1	-	pfam_DUF106_TM		0.279	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	G	NM_019026		165728791	-1	no_errors	ENST00000367881	ensembl	human	known	70_37	missense	SNP	1.000	A	A	165728791	G	A	165728791	3	1	117	1	0	0	0	0	1	0	0	0	16025	1294	45	1	407	1	TMCO1	1	165728791	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	31432	165728791	83521830	95	17563										
GPR161	23432	genome.wustl.edu	37	chr1	168066279	168066279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accagatctgccagaaggccGtgtagccaggctcccggtgc	13	14	1	2	rs371919925		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:168066279G>A	ENST00000367838.1	-	5	879	c.566C>T	c.(565-567)aCg>aTg	p.T189M	GPR161_ENST00000546300.1_Missense_Mutation_p.T75M|GPR161_ENST00000539777.1_Missense_Mutation_p.T111M|GPR161_ENST00000271357.5_Missense_Mutation_p.T189M|GPR161_ENST00000361697.2_Missense_Mutation_p.T189M|GPR161_ENST00000367835.1_Missense_Mutation_p.T189M|GPR161_ENST00000367836.1_Missense_Mutation_p.T57M|GPR161_ENST00000537209.1_Missense_Mutation_p.T209M	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	189					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCAGAAGGCCGTGTAGCCAGG	0.592																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	72	60	64		566	4.2	0.7	1		64	0,8600		0,0,4300	no	missense	GPR161	NM_153832.1	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	189/530	168066279	1,13005	2203	4300	6503	SO:0001583	missense	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.566C>T	1.37:g.168066279G>A	ENSP00000356812:p.Thr189Met		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T209M	ENST00000367838.1	37	c.626	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940551	0.73557	2.27E-4	0.0	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.07	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.66378	2.025	0.45718	D	0.998625	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.995;0.995;0.998;0.997;0.968;0.998	T	0.56914	-0.7900	9	0.87932	D	0	-23.8928	13.1838	0.59670	0.0786:0.0:0.9214:0.0	.	209;75;111;209;189;189	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	M	189;189;57;189;75;111;209;189	ENSP00000356812:T189M;ENSP00000271357:T189M;ENSP00000356810:T57M;ENSP00000356809:T189M;ENSP00000444348:T75M;ENSP00000437576:T111M;ENSP00000441039:T209M;ENSP00000355194:T189M	ENSP00000271357:T189M	T	-	2	0	GPR161	166332903	1.000000	0.71417	0.733000	0.30861	0.962000	0.63368	9.634000	0.98435	1.264000	0.44198	0.561000	0.74099	ACG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	G	NM_007369		168066279	-1	no_errors	ENST00000537209	ensembl	human	known	70_37	missense	SNP	0.999	A	A	168066279	G	A	168066279	3	1	117	1	0	0	0	0	1	0	0	0	6684	1145	40	2	1039	2	GPR161	1	168066279	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2337488	168066279	81184342	96	17564										
F5	2153	genome.wustl.edu	37	chr1	169521893	169521893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttggtgaaggactcatcttCgtactgtgtgtacataactt	9	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:169521893C>T	ENST00000367797.3	-	8	1399	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	F5_ENST00000546081.1_Missense_Mutation_p.E263K|F5_ENST00000367796.3_Missense_Mutation_p.E400K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	400	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GACTCATCTTCGTACTGTGTG	0.353																																																	0													170	174	173					1																	169521893		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1198G>A	1.37:g.169521893C>T	ENSP00000356771:p.Glu400Lys		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E400K	ENST00000367797.3	37	c.1198	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807122	0.16467	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98937	-5.25;-5.25;-5.25	5.95	-0.775	0.10988	Cupredoxin (2);	0.608841	0.17795	N	0.161772	D	0.87402	0.6168	N	0.04880	-0.145	0.27301	N	0.957573	B	0.18166	0.026	B	0.04013	0.001	T	0.76473	-0.2946	9	0.30854	T	0.27	-2.0128	6.427	0.21776	0.0639:0.433:0.2713:0.2318	.	400	P12259	FA5_HUMAN	K	400;400;263	ENSP00000356771:E400K;ENSP00000356770:E400K;ENSP00000439664:E263K	ENSP00000356770:E400K	E	-	1	0	F5	167788517	0.615000	0.27026	0.182000	0.23118	0.734000	0.41952	0.231000	0.17872	-0.397000	0.07691	-0.176000	0.13171	GAA	F5	-	superfamily_Cupredoxin		0.353	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169521893	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.743	T	T	169521893	C	T	169521893	3	4	117	1	0	0	0	0	1	0	0	0	5360	893	31	1	5548	1	F5	1	169521893	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1455614	169521893	79728728	97	17565										
FMO1	2326	genome.wustl.edu	37	chr1	171244493	171244493	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcttttttcagaccaaagtCtgcagtgtaacaaaatgctc	6	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:171244493C>G	ENST00000354841.4	+	3	461	c.330C>G	c.(328-330)gtC>gtG	p.V110V	FMO1_ENST00000402921.2_Silent_p.V47V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.V110V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	110					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGACCAAAGTCTGCAGTGTAA	0.403																																																	0													107	99	102					1																	171244493		2203	4300	6503	SO:0001819	synonymous_variant	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.330C>G	1.37:g.171244493C>G			A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.V110	ENST00000354841.4	37	c.330	CCDS1294.1	1																																																																																			FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2		0.403	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	C	NM_002021		171244493	1	no_errors	ENST00000354841	ensembl	human	known	70_37	silent	SNP	0.998	G	G	171244493	C	G	171244493	2	3	117	1	0	0	0	0	0	0	0	1	5972	900	32	1		1	FMO1	1	171244493	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1722600	171244493	78006128	98	17566										
SERPINC1	462	genome.wustl.edu	37	chr1	173878880	173878880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctaccttggccaggctcttCtcaggcttgggcaagatgag	12	11	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:173878880C>T	ENST00000367698.3	-	5	1081	c.963G>A	c.(961-963)gaG>gaA	p.E321E	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	321					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CCAGGCTCTTCTCAGGCTTGG	0.567																																																	0													141	132	135					1																	173878880		2203	4300	6503	SO:0001819	synonymous_variant	462			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.963G>A	1.37:g.173878880C>T			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E321	ENST00000367698.3	37	c.963	CCDS1313.1	1																																																																																			SERPINC1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.567	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	C	NM_000488		173878880	-1	no_errors	ENST00000367698	ensembl	human	known	70_37	silent	SNP	0.018	T	T	173878880	C	T	173878880	2	4	117	1	0	0	0	0	0	0	0	1	14139	912	32	1		1	SERPINC1	1	173878880	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2634387	173878880	75371741	99	17567										
MRPS14	63931	genome.wustl.edu	37	chr1	174987559	174987559	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttaattagctaacctgaaGaatttttggcaaaatggtat	7	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:174987559G>A	ENST00000476371.1	-	2	215	c.199C>T	c.(199-201)Ctt>Ttt	p.L67F		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CTAACCTGAAGAATTTTTGGC	0.373																																																	0													175	163	167					1																	174987559		2203	4300	6503	SO:0001583	missense	63931			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"Mitochondrial ribosomal proteins / small subunits"	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.199C>T	1.37:g.174987559G>A	ENSP00000420714:p.Leu67Phe			Missense_Mutation	SNP	pfam_Ribosomal_S14	p.L67F	ENST00000476371.1	37	c.199	CCDS1316.1	1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615721	0.28801	.	.	ENSG00000120333	ENST00000476371	.	.	.	3.97	3.04	0.35103	.	0.061993	0.64402	D	0.000003	T	0.68016	0.2955	M	0.85542	2.76	0.80722	D	1	P	0.37122	0.583	B	0.40165	0.321	T	0.74494	-0.3647	9	0.56958	D	0.05	-9.6911	13.8609	0.63559	0.0:0.0:0.8456:0.1544	.	67	O60783	RT14_HUMAN	F	67	.	ENSP00000420714:L67F	L	-	1	0	MRPS14	173254182	1.000000	0.71417	0.791000	0.31998	0.099000	0.18886	4.622000	0.61240	1.227000	0.43598	-0.182000	0.12963	CTT	MRPS14	-	NULL		0.373	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS14	HGNC	protein_coding	OTTHUMT00000084416.2	G	NM_022100		174987559	-1	no_errors	ENST00000476371	ensembl	human	known	70_37	missense	SNP	1.000	A	A	174987559	G	A	174987559	3	1	117	1	0	0	0	0	1	0	0	0	9847	942	33	1	195	1	MRPS14	1	174987559	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1108679	174987559	74263062	100	17568										
RFWD2	64326	genome.wustl.edu	37	chr1	176133017	176133017	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctttgcttctgtttaagaatGagttcattcactgaaaacag	7	7	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:176133017G>C	ENST00000367669.3	-	4	1090	c.576C>G	c.(574-576)ctC>ctG	p.L192L	RFWD2_ENST00000308769.8_Silent_p.L192L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	192					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.L192L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTAAGAATGAGTTCATTCA	0.284																																					Ovarian(134;1413 1765 5706 35534 51541)												1	Substitution - coding silent(1)	lung(1)											43	42	42					1																	176133017		2203	4296	6499	SO:0001819	synonymous_variant	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.576C>G	1.37:g.176133017G>C			E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L192	ENST00000367669.3	37	c.576	CCDS30944.1	1																																																																																			RFWD2	-	NULL		0.284	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	G	NM_022457		176133017	-1	no_errors	ENST00000367669	ensembl	human	known	70_37	silent	SNP	0.993	C	C	176133017	G	C	176133017	2	2	117	1	0	0	0	0	0	0	0	1	13290	1277	45	1		1	RFWD2	1	176133017	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1145458	176133017	73117604	101	17569										
PAPPA2	60676	genome.wustl.edu	37	chr1	176564181	176564181	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtacccacgacttgaggttCtccagggctttgagccagag	12	11	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:176564181C>T	ENST00000367662.3	+	3	2605	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L481F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	481	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTGAGGTTCTCCAGGGCTT	0.532																																																	0													77	79	78					1																	176564181		1980	4163	6143	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1441C>T	1.37:g.176564181C>T	ENSP00000356634:p.Leu481Phe		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L481F	ENST00000367662.3	37	c.1441	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	2.719	-0.266950	0.05754	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.33865	4.61;1.39	5.18	4.25	0.50352	.	0.425407	0.17270	N	0.180412	T	0.25531	0.0621	L	0.34521	1.04	0.23391	N	0.997774	B;B	0.16396	0.004;0.017	B;B	0.13407	0.005;0.009	T	0.14783	-1.0460	10	0.32370	T	0.25	-13.3805	7.6349	0.28261	0.2738:0.648:0.0:0.0782	.	481;481	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	481	ENSP00000356634:L481F;ENSP00000356633:L481F	ENSP00000356633:L481F	L	+	1	0	PAPPA2	174830804	0.006000	0.16342	0.996000	0.52242	0.093000	0.18481	1.470000	0.35354	1.144000	0.42321	0.650000	0.86243	CTC	PAPPA2	-	NULL		0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	C			176564181	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.409	T	T	176564181	C	T	176564181	3	4	117	1	0	0	0	0	1	0	0	0	11457	913	32	1	1447	1	PAPPA2	1	176564181	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	431164	176564181	72686440	102	17570										
TDRD5	163589	genome.wustl.edu	37	chr1	179659947	179659947	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtctttgattttgtcttatGagtgccagatttctcagaag	9	6	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:179659947G>C	ENST00000367614.1	+	17	3174	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	TDRD5_ENST00000444136.1_Missense_Mutation_p.E993Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.E939Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	939					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGTCTTATGAGTGCCAGAT	0.458																																																	0													75	73	74					1																	179659947		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2815G>C	1.37:g.179659947G>C	ENSP00000356586:p.Glu939Gln		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E993Q	ENST00000367614.1	37	c.2977	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	5.702	0.314021	0.10789	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.39056	2.31;2.31;2.41;1.1	5.17	1.01	0.19927	.	0.497879	0.20032	N	0.100695	T	0.24624	0.0597	N	0.20401	0.57	0.09310	N	1	B;B	0.18310	0.027;0.016	B;B	0.17722	0.019;0.007	T	0.15407	-1.0438	10	0.33940	T	0.23	-22.3224	8.5795	0.33619	0.0865:0.47:0.4435:0.0	.	993;939	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Q	939;939;993;449	ENSP00000356586:E939Q;ENSP00000294848:E939Q;ENSP00000406052:E993Q;ENSP00000410744:E449Q	ENSP00000294848:E939Q	E	+	1	0	TDRD5	177926570	0.996000	0.38824	0.018000	0.16275	0.231000	0.25187	1.586000	0.36611	0.004000	0.14682	-0.175000	0.13238	GAG	TDRD5	-	NULL		0.458	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	G	NM_173533		179659947	1	no_errors	ENST00000444136	ensembl	human	known	70_37	missense	SNP	0.234	C	C	179659947	G	C	179659947	3	2	117	1	0	0	0	0	1	0	0	0	15763	1291	45	1	2877	1	TDRD5	1	179659947	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3095766	179659947	69590674	103	17571										
C1orf14	81626	genome.wustl.edu	37	chr1	182873370	182873370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagcagcccctgtaagaacaCacactcctgttccttcacat	5	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:182873370C>T	ENST00000367547.3	-	8	1768	c.1532G>A	c.(1531-1533)tGt>tAt	p.C511Y	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.C392Y	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	583										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGTAAGAACACACACTCCTGT	0.408																																																	0													141	137	138					1																	182873370		2203	4300	6503	SO:0001583	missense	81626			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1532G>A	1.37:g.182873370C>T	ENSP00000356518:p.Cys511Tyr		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.C511Y	ENST00000367547.3	37	c.1532	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759207	0.69763	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.39406	1.08;1.08	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.64402	D	0.000006	T	0.46249	0.1383	N	0.22421	0.69	0.46499	D	0.999072	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.87578	0.998;0.903;0.998	T	0.21348	-1.0248	10	0.02654	T	1	-13.1182	16.4312	0.83844	0.0:1.0:0.0:0.0	.	583;392;511	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	Y	511;580;392	ENSP00000356518:C511Y;ENSP00000397308:C392Y	ENSP00000287709:C580Y	C	-	2	0	SHCBP1L	181139993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.085000	0.64468	2.618000	0.88619	0.655000	0.94253	TGT	SHCBP1L	-	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1		0.408	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	C	NM_030933		182873370	-1	no_errors	ENST00000367547	ensembl	human	known	70_37	missense	SNP	1.000	T	T	182873370	C	T	182873370	3	4	117	1	0	0	0	0	1	0	0	0	2005	478	17	4	441	4	C1orf14	1	182873370	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3213423	182873370	66377251	104	17572										
GLT25D2	23127	genome.wustl.edu	37	chr1	183938564	183938564	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaagcagcctgtcctcttcCattctcgaatctgaacgtag	9	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:183938564C>T	ENST00000361927.4	-	5	1042	c.671G>A	c.(670-672)tGg>tAg	p.W224*	COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.W224*	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	224					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TGTCCTCTTCCATTCTCGAAT	0.507																																																	0													109	108	109					1																	183938564		2203	4300	6503	SO:0001587	stop_gained	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.671G>A	1.37:g.183938564C>T	ENSP00000354960:p.Trp224*		O60327|Q9BZR0	Nonsense_Mutation	SNP	pfam_Glyco_trans_25	p.W224*	ENST00000361927.4	37	c.671	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.660216	0.97743	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-22.7284	19.2702	0.94006	0.0:1.0:0.0:0.0	.	.	.	.	X	224	.	ENSP00000354960:W224X	W	-	2	0	GLT25D2	182205187	1.000000	0.71417	0.998000	0.56505	0.260000	0.26232	4.483000	0.60264	2.557000	0.86248	0.591000	0.81541	TGG	GLT25D2	-	NULL		0.507	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D2	HGNC	protein_coding	OTTHUMT00000086128.1	C	NM_015101		183938564	-1	no_errors	ENST00000361927	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	183938564	C	T	183938564	4	4	117	1	0	0	0	0	0	1	0	0	6486	595	21	4	1241	4	GLT25D2	1	183938564	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1065194	183938564	65312057	105	17573										
EDEM3	80267	genome.wustl.edu	37	chr1	184677335	184677335	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aactgagctggtccagcagtCaatactaccctgccaaaaaa	7	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:184677335C>G	ENST00000318130.8	-	17	2255	c.1989G>C	c.(1987-1989)ttG>ttC	p.L663F	EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.L620F	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	663					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCCAGCAGTCAATACTACCC	0.378																																																	0													63	56	58					1																	184677335		2203	4300	6503	SO:0001583	missense	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1989G>C	1.37:g.184677335C>G	ENSP00000318147:p.Leu663Phe		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L663F	ENST00000318130.8	37	c.1989	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183664	0.57800	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.74632	-0.86;-0.84	5.66	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	L	0.52364	1.645	0.80722	D	1	P	0.46142	0.873	P	0.49387	0.609	T	0.68315	-0.5441	10	0.46703	T	0.11	.	8.7978	0.34890	0.0:0.6121:0.0:0.3879	.	663	Q9BZQ6	EDEM3_HUMAN	F	663;620	ENSP00000318147:L663F;ENSP00000356482:L620F	ENSP00000318147:L663F	L	-	3	2	EDEM3	182943958	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	1.691000	0.37721	0.287000	0.22375	0.655000	0.94253	TTG	EDEM3	-	NULL		0.378	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	C	NM_025191		184677335	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	missense	SNP	1.000	G	G	184677335	C	G	184677335	3	3	117	1	0	0	0	0	1	0	0	0	4923	825	29	1	825	1	EDEM3	1	184677335	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	738771	184677335	64573286	106	17574										
PLA2G4A	5321	genome.wustl.edu	37	chr1	186901988	186901988	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattatacgaatcaggaattCtggattgtgctacctacgtt	8	8	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:186901988C>T	ENST00000367466.3	+	8	804	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	PLA2G4A_ENST00000442353.2_Silent_p.L158L|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	218	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATCAGGAATTCTGGATTGTGC	0.408																																																	0													228	221	224					1																	186901988		2203	4300	6503	SO:0001819	synonymous_variant	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.652C>T	1.37:g.186901988C>T			B1AKG4|Q29R80	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L218	ENST00000367466.3	37	c.652	CCDS1372.1	1																																																																																			PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.408	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	C	NM_024420		186901988	1	no_errors	ENST00000367466	ensembl	human	known	70_37	silent	SNP	1.000	T	T	186901988	C	T	186901988	2	4	117	1	0	0	0	0	0	0	0	1	12025	912	32	1		1	PLA2G4A	1	186901988	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2224653	186901988	62348633	107	17575										
CFH	3075	genome.wustl.edu	37	chr1	196716339	196716339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgagaacaggtgaatcagttGaatttgtgtgtaaacgggga	14	4	1	3	rs121913063		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:196716339G>A	ENST00000367429.4	+	22	3832	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1198	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.		E -> A (in AHUS1). {ECO:0000269|PubMed:14583443}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.E1198*(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATCAGTTGAATTTGTGTG	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM060895|CM070672	CFH	M	rs121913063						249	223	232					1																	196716339		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3592G>A	1.37:g.196716339G>A	ENSP00000356399:p.Glu1198Lys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E1198K	ENST00000367429.4	37	c.3592	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.564030	0.27915	.	.	ENSG00000000971	ENST00000367429	T	0.63913	-0.07	4.35	3.44	0.39384	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71846	0.3388	M	0.85542	2.76	0.80722	D	1	D	0.53312	0.959	P	0.57057	0.812	T	0.73726	-0.3892	9	0.07175	T	0.84	.	11.7776	0.51995	0.0:0.1778:0.8222:0.0	.	1198	P08603	CFAH_HUMAN	K	1198	ENSP00000356399:E1198K	ENSP00000356399:E1198K	E	+	1	0	CFH	194982962	0.999000	0.42202	0.974000	0.42286	0.007000	0.05969	3.600000	0.54052	1.196000	0.43129	-0.485000	0.04761	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196716339	1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.996	A	A	196716339	G	A	196716339	3	1	117	1	0	0	0	0	1	0	0	0	3288	1291	45	1	3696	1	CFH	1	196716339	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9814351	196716339	52534282	108	17576										
ASPM	259266	genome.wustl.edu	37	chr1	197098341	197098341	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattcggcatctttacagaaGagacaaggatcatgatcaat	8	7	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:197098341G>A	ENST00000367409.4	-	9	2992	c.2736C>T	c.(2734-2736)ctC>ctT	p.L912L	ASPM_ENST00000294732.7_Silent_p.L912L|ASPM_ENST00000367408.1_Silent_p.L162L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	912					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTACAGAAGAGACAAGGAT	0.318																																																	0													104	103	104					1																	197098341		2203	4297	6500	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2736C>T	1.37:g.197098341G>A			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L912	ENST00000367409.4	37	c.2736	CCDS1389.1	1																																																																																			ASPM	-	superfamily_CH-domain		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197098341	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	1.000	A	A	197098341	G	A	197098341	2	1	117	1	0	0	0	0	0	0	0	1	1057	929	33	1		1	ASPM	1	197098341	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	382002	197098341	52152280	109	17577										
IGFN1	91156	genome.wustl.edu	37	chr1	201175672	201175672	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcagagacagcaacagtgatGaatgctggaggaaagcagga	15	6	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201175672G>A	ENST00000335211.4	+	12	1781	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAACAGTGATGAATGCTGGAG	0.587																																																	0													85	90	89					1																	201175672		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1651G>A	1.37:g.201175672G>A	ENSP00000334714:p.Glu551Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E551K	ENST00000335211.4	37	c.1651	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073571	0.36566	.	.	ENSG00000163395	ENST00000335211	T	0.52983	0.64	4.82	-2.2	0.06994	.	.	.	.	.	T	0.24547	0.0595	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27191	-1.0081	6	.	.	.	.	10.0949	0.42469	0.4957:0.0:0.5043:0.0	.	.	.	.	K	551	ENSP00000334714:E551K	.	E	+	1	0	IGFN1	199442295	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.043000	0.12043	-0.447000	0.07138	-0.345000	0.07892	GAA	IGFN1	-	NULL		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201175672	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A	A	201175672	G	A	201175672	3	1	117	1	0	0	0	0	1	0	0	0	7610	1291	45	1	1693	1	IGFN1	1	201175672	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4077331	201175672	48074949	110	17578										
ELF3	1999	genome.wustl.edu	37	chr1	201981124	201981124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaacagccccagttctggtCgaagacgcaggttctggact	13	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201981124C>T	ENST00000359651.3	+	2	3395	c.203C>T	c.(202-204)tCg>tTg	p.S68L	ELF3_ENST00000367283.3_Missense_Mutation_p.S68L|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Missense_Mutation_p.S68L|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGTTCTGGTCGAAGACGCAG	0.592																																																	0													110	111	111					1																	201981124		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.203C>T	1.37:g.201981124C>T	ENSP00000352673:p.Ser68Leu			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.S68L	ENST00000359651.3	37	c.203	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848331	0.71603	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.56	5.56	0.83823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.065879	0.56097	D	0.000023	T	0.46852	0.1414	L	0.59436	1.845	0.40388	D	0.979513	D	0.57571	0.98	P	0.46110	0.504	T	0.53041	-0.8494	10	0.66056	D	0.02	.	15.8502	0.78924	0.0:0.8643:0.1357:0.0	.	68	P78545	ELF3_HUMAN	L	68;68;68;68;66	ENSP00000352673:S68L;ENSP00000356253:S68L;ENSP00000356252:S68L;ENSP00000405162:S66L	ENSP00000311348:S68L	S	+	2	0	ELF3	200247747	0.877000	0.30153	0.978000	0.43139	0.493000	0.33554	1.655000	0.37345	2.608000	0.88229	0.591000	0.81541	TCG	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.592	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201981124	1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	0.991	T	T	201981124	C	T	201981124	3	4	117	1	0	0	0	0	1	0	0	0	5067	893	31	1	209	1	ELF3	1	201981124	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	805452	201981124	47269497	111	17579										
ELF3	1999	genome.wustl.edu	37	chr1	201981255	201981255	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgcccttgaggagctgcgtCtggtctttgggcctctgggg	17	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201981255C>T	ENST00000359651.3	+	2	3526	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	ELF3_ENST00000367283.3_Silent_p.L112L|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Silent_p.L112L|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGAGCTGCGTCTGGTCTTTGG	0.597																																																	0													65	58	61					1																	201981255		2203	4300	6503	SO:0001819	synonymous_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.334C>T	1.37:g.201981255C>T				Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.L112	ENST00000359651.3	37	c.334	CCDS1419.1	1																																																																																			ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.597	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201981255	1	no_errors	ENST00000359651	ensembl	human	known	70_37	silent	SNP	0.009	T	T	201981255	C	T	201981255	2	4	117	1	0	0	0	0	0	0	0	1	5067	912	32	1		1	ELF3	1	201981255	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	131	201981255	47269366	112	17580										
MYOG	4656	genome.wustl.edu	37	chr1	203054799	203054799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agggcctcgaaggcctcattCaccttcttgagcctgcgctt	10	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203054799C>T	ENST00000241651.4	-	1	365	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	97	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						AGGCCTCATTCACCTTCTTGA	0.632																																																	0													81	82	81					1																	203054799		2203	4300	6503	SO:0001819	synonymous_variant	4656			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"Basic helix-loop-helix proteins"	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.291G>A	1.37:g.203054799C>T			Q53XW6	Silent	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.V97	ENST00000241651.4	37	c.291	CCDS1433.1	1																																																																																			MYOG	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.632	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOG	HGNC	protein_coding	OTTHUMT00000100279.1	C	NM_002479		203054799	-1	no_errors	ENST00000241651	ensembl	human	known	70_37	silent	SNP	1.000	T	T	203054799	C	T	203054799	2	4	117	1	0	0	0	0	0	0	0	1	10113	813	29	1		1	MYOG	1	203054799	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1073544	203054799	46195822	113	17581										
MYOG	4656	genome.wustl.edu	37	chr1	203055086	203055086	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggggatgtctcatacagctCcatggggtcggaaaaggctt	15	8	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203055086C>G	ENST00000241651.4	-	1	78	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	2					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TCATACAGCTCCATGGGGTCG	0.592											OREG0002107	type=REGULATORY REGION|Gene=MYOG|EvidenceSubtype=Chloramphenicol acetyltransferase (CAT) Assay																																					0													35	29	31					1																	203055086		2203	4300	6503	SO:0001583	missense	4656			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"Basic helix-loop-helix proteins"	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.4G>C	1.37:g.203055086C>G	ENSP00000241651:p.Glu2Gln	2134	Q53XW6	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.E2Q	ENST00000241651.4	37	c.4	CCDS1433.1	1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.505571	0.85282	.	.	ENSG00000122180	ENST00000241651	D	0.81739	-1.53	5.54	5.54	0.83059	Myogenic basic muscle-specific protein (2);	0.045818	0.85682	N	0.000000	D	0.89153	0.6634	M	0.68593	2.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.89738	0.3931	10	0.87932	D	0	.	19.4994	0.95086	0.0:1.0:0.0:0.0	.	2	P15173	MYOG_HUMAN	Q	2	ENSP00000241651:E2Q	ENSP00000241651:E2Q	E	-	1	0	MYOG	201321709	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.450000	0.80656	2.610000	0.88304	0.457000	0.33378	GAG	MYOG	-	pfam_Basic,smart_Basic		0.592	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOG	HGNC	protein_coding	OTTHUMT00000100279.1	C	NM_002479		203055086	-1	no_errors	ENST00000241651	ensembl	human	known	70_37	missense	SNP	1.000	G	G	203055086	C	G	203055086	3	3	117	1	0	0	0	0	1	0	0	0	10113	864	30	1	682	1	MYOG	1	203055086	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	287	203055086	46195535	114	17582										
CHIT1	1118	genome.wustl.edu	37	chr1	203186868	203186868	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgggccccttacttactCagttcctgccgtagcgtctg	9	16	2	0	rs372941874|rs143439055|rs200625369	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203186868C>G	ENST00000367229.1	-	10	1189	c.1155G>C	c.(1153-1155)ctG>ctC	p.L385L	CHIT1_ENST00000535569.1_Splice_Site_p.L376L|CHIT1_ENST00000255427.3_Splice_Site_p.L366L|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	385					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTTACTTACTCAGTTCCTGCC	0.587																																																	0													51	53	52					1																	203186868		2198	4300	6498	SO:0001630	splice_region_variant	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1156+1G>C	1.37:g.203186868C>G			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.L385	ENST00000367229.1	37	c.1155	CCDS1436.1	1																																																																																			CHIT1	-	superfamily_Glycoside_hydrolase_SF		0.587	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	HGNC	protein_coding	OTTHUMT00000100275.2	C	NM_003465	Silent	203186868	-1	no_errors	ENST00000367229	ensembl	human	known	70_37	silent	SNP	0.483	G	G	203186868	C	G	203186868	5	3	117	1	0	0	0	0	0	0	1	0	3351	840	29	1	253	1	CHIT1	1	203186868	Splice_Site	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	131782	203186868	46063753	115	17583										
ATP2B4	493	genome.wustl.edu	37	chr1	203696622	203696622	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggatgccgagggactggatGagattgaccatgctgagatg	16	6	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203696622G>C	ENST00000357681.5	+	20	4355	c.3232G>C	c.(3232-3234)Gag>Cag	p.E1078Q	ATP2B4_ENST00000391954.2_Missense_Mutation_p.E1042Q|SNORA77_ENST00000408716.1_RNA|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1066Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1078Q|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1078Q|ATP2B4_ENST00000466407.1_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1078					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGACTGGATGAGATTGACCA	0.567																																																	0													164	151	155					1																	203696622		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3232G>C	1.37:g.203696622G>C	ENSP00000350310:p.Glu1078Gln		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.E1078Q	ENST00000357681.5	37	c.3232	CCDS1440.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.830125|4.830125	0.91036|0.91036	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360|ENST00000458092;ENST00000356729	D;D;D;D;D|.	0.94330|.	-3.2;-3.2;-3.21;-3.4;-3.2|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.49916|.	D|.	0.000126|.	D|D	0.83202|0.83202	0.5203|0.5203	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.997;0.5;0.993|.	D;B;P|.	0.65010|.	0.931;0.2;0.787|.	D|D	0.83950|0.83950	0.0316|0.0316	10|5	0.49607|.	T|.	0.09|.	-34.6282|-34.6282	19.5738|19.5738	0.95432|0.95432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1078;1078;1078|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	Q|I	1078;1078;1066;1042;1078|64;42	ENSP00000350310:E1078Q;ENSP00000356187:E1078Q;ENSP00000356188:E1066Q;ENSP00000375816:E1042Q;ENSP00000340930:E1078Q|.	ENSP00000340930:E1078Q|.	E|M	+|+	1|3	0|0	ATP2B4|ATP2B4	201963245|201963245	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.569000|0.569000	0.35902|0.35902	9.863000|9.863000	0.99569|0.99569	2.719000|2.719000	0.93026|0.93026	0.555000|0.555000	0.69702|0.69702	GAG|ATG	ATP2B4	-	NULL		0.567	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	G	NM_001001396		203696622	1	no_errors	ENST00000357681	ensembl	human	known	70_37	missense	SNP	1.000	C	C	203696622	G	C	203696622	3	2	117	1	0	0	0	0	1	0	0	0	1143	1291	45	1	3306	1	ATP2B4	1	203696622	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	509754	203696622	45553999	116	17584										
C1orf116	79098	genome.wustl.edu	37	chr1	207195735	207195735	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcagccctgactctggcttCggtggagtcagggcactgtt	14	11	3	1	rs6693011	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:207195735C>A	ENST00000359470.5	-	4	1623	c.1374G>T	c.(1372-1374)ccG>ccT	p.P458P	C1orf116_ENST00000461135.2_Silent_p.P212P	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	458						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ACTCTGGCTTCGGTGGAGTCA	0.552																																																	0													39	41	40					1																	207195735		2203	4300	6503	SO:0001819	synonymous_variant	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1374G>T	1.37:g.207195735C>A			C9JV41|Q658X3	Silent	SNP	NULL	p.P458	ENST00000359470.5	37	c.1374	CCDS1475.1	1																																																																																			C1orf116	-	NULL		0.552	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207195735	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	silent	SNP	0.002	A	A	207195735	C	A	207195735	2	1	117	1	0	0	0	0	0	0	0	1	1994	871	31	3		3	C1orf116	1	207195735	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3499113	207195735	42054886	117	17585										
PFKFB2	5208	genome.wustl.edu	37	chr1	207237151	207237151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatccgtctgtgatgatcctGatgtcattgctgccaatatt	8	9	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:207237151G>A	ENST00000367080.3	+	7	608	c.484G>A	c.(484-486)Gat>Aat	p.D162N	PFKFB2_ENST00000367079.2_Missense_Mutation_p.D162N|PFKFB2_ENST00000541914.1_5'Flank|PFKFB2_ENST00000411990.2_Missense_Mutation_p.D64N|PFKFB2_ENST00000545806.1_Missense_Mutation_p.D129N	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	162	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TGATGATCCTGATGTCATTGC	0.463																																																	0													336	308	317					1																	207237151		2203	4300	6503	SO:0001583	missense	5208				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.484G>A	1.37:g.207237151G>A	ENSP00000356047:p.Asp162Asn		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.D162N	ENST00000367080.3	37	c.484	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930979	0.92389	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.49	5.49	0.81192	6-phosphofructo-2-kinase (1);	0.091023	0.85682	D	0.000000	T	0.51244	0.1663	N	0.21545	0.675	0.80722	D	1	B;B;B	0.13145	0.007;0.001;0.006	B;B;B	0.18561	0.008;0.008;0.022	T	0.41070	-0.9529	9	0.31617	T	0.26	.	18.3618	0.90377	0.0:0.0:1.0:0.0	.	64;162;162	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	N	64;162;162;129	.	ENSP00000356046:D162N	D	+	1	0	PFKFB2	205303774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.592000	0.87571	0.655000	0.94253	GAT	PFKFB2	-	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin		0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	G			207237151	1	no_errors	ENST00000367080	ensembl	human	known	70_37	missense	SNP	1.000	A	A	207237151	G	A	207237151	3	1	117	1	0	0	0	0	1	0	0	0	11785	1290	45	1	506	1	PFKFB2	1	207237151	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	41416	207237151	42013470	118	17586										
C4BPA	722	genome.wustl.edu	37	chr1	207297628	207297628	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagctgtgacccccgcttctCactcttgggccatgcctcca	8	18	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:207297628C>A	ENST00000367070.3	+	6	817	c.623C>A	c.(622-624)tCa>tAa	p.S208*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	208	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCCCGCTTCTCACTCTTGGGC	0.483																																																	0													85	88	87					1																	207297628		2203	4300	6503	SO:0001587	stop_gained	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.623C>A	1.37:g.207297628C>A	ENSP00000356037:p.Ser208*		Q5VVQ8	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S208*	ENST00000367070.3	37	c.623	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091065	0.55968	.	.	ENSG00000123838	ENST00000367070	.	.	.	5.71	3.84	0.44239	.	0.714836	0.12661	N	0.449642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.7582	0.34658	0.0:0.7697:0.1494:0.0808	.	.	.	.	X	208	.	ENSP00000356037:S208X	S	+	2	0	C4BPA	205364251	0.250000	0.23951	0.015000	0.15790	0.012000	0.07955	1.159000	0.31749	0.873000	0.35799	-0.133000	0.14855	TCA	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	C			207297628	1	no_errors	ENST00000367070	ensembl	human	known	70_37	nonsense	SNP	0.329	A	A	207297628	C	A	207297628	4	1	117	1	0	0	0	0	0	1	0	0	2254	838	29	3	641	3	C4BPA	1	207297628	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	60477	207297628	41952993	119	17587										
SERTAD4	56256	genome.wustl.edu	37	chr1	210415303	210415303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcctcctcatcttcctcttCctctccccctttgcctttac	1	20	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:210415303C>T	ENST00000367012.3	+	4	922	c.692C>T	c.(691-693)tCc>tTc	p.S231F	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		tcttcctcttcctctccccct	0.493																																																	0													76	71	73					1																	210415303		2203	4300	6503	SO:0001583	missense	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.692C>T	1.37:g.210415303C>T	ENSP00000355979:p.Ser231Phe		B2RD32	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.S231F	ENST00000367012.3	37	c.692	CCDS1494.1	1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317637	0.23994	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.33	4.41	0.53225	.	0.321368	0.27336	N	0.019829	T	0.24160	0.0585	N	0.24115	0.695	0.28910	N	0.892777	P	0.48162	0.906	B	0.41571	0.36	T	0.11891	-1.0569	9	0.62326	D	0.03	-7.2096	8.2415	0.31662	0.0:0.7588:0.1565:0.0847	.	231	Q9NUC0	SRTD4_HUMAN	F	231	.	ENSP00000355979:S231F	S	+	2	0	SERTAD4	208481926	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.372000	0.44257	1.353000	0.45828	0.655000	0.94253	TCC	SERTAD4	-	NULL		0.493	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD4	HGNC	protein_coding	OTTHUMT00000088577.1	C	NM_019605		210415303	1	no_errors	ENST00000367012	ensembl	human	known	70_37	missense	SNP	1.000	T	T	210415303	C	T	210415303	3	4	117	1	0	0	0	0	1	0	0	0	14153	855	30	1	702	1	SERTAD4	1	210415303	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3117675	210415303	38835318	120	17588										
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220340971	220340971	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agttttaatacttcagggctGaagtcctgtttaaatatcca	7	7	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:220340971G>A	ENST00000358951.2	-	25	2969	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	951					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTCAGGGCTGAAGTCCTGTT	0.393																																																	0													173	180	178					1																	220340971		2203	4300	6503	SO:0001819	synonymous_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2853C>T	1.37:g.220340971G>A			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	superfamily_WD40_repeat_dom	p.F951	ENST00000358951.2	37	c.2853	CCDS31028.1	1																																																																																			RAB3GAP2	-	NULL		0.393	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220340971	-1	no_errors	ENST00000358951	ensembl	human	known	70_37	silent	SNP	0.868	A	A	220340971	G	A	220340971	2	1	117	1	0	0	0	0	0	0	0	1	12966	1281	45	1		1	RAB3GAP2	1	220340971	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9925668	220340971	28909650	121	17589										
MIA3	375056	genome.wustl.edu	37	chr1	222803319	222803319	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagccagggcatagtgacaaGagggaggacttacttatcat	13	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:222803319G>C	ENST00000344922.5	+	4	2782	c.2757G>C	c.(2755-2757)aaG>aaC	p.K919N	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K919N|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	919					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATAGTGACAAGAGGGAGGACT	0.483																																																	0													75	70	72					1																	222803319		1954	4132	6086	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2757G>C	1.37:g.222803319G>C	ENSP00000340900:p.Lys919Asn		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.K919N	ENST00000344922.5	37	c.2757	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.035|3.035	-0.198877|-0.198877	0.06219|0.06219	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.04603	.|3.59;3.59	4.53|4.53	-9.05|-9.05	0.00730|0.00730	.|.	.|.	.|.	.|.	.|.	T|T	0.03390|0.03390	0.0098|0.0098	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27068	.|0.013;0.167	.|B;B	.|0.19148	.|0.005;0.024	T|T	0.19778|0.19778	-1.0295|-1.0295	5|9	.|0.20519	.|T	.|0.43	.|.	8.2881|8.2881	0.31941|0.31941	0.0667:0.1573:0.5267:0.2492|0.0667:0.1573:0.5267:0.2492	.|.	.|919;919	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	Q|N	502|919	.|ENSP00000340900:K919N;ENSP00000340587:K919N	.|ENSP00000325973:K919N	E|K	+|+	1|3	0|2	MIA3|MIA3	220869942|220869942	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-2.793000|-2.793000	0.00766|0.00766	-2.968000|-2.968000	0.00287|0.00287	-0.502000|-0.502000	0.04539|0.04539	GAG|AAG	MIA3	-	NULL		0.483	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222803319	1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.000	C	C	222803319	G	C	222803319	3	2	117	1	0	0	0	0	1	0	0	0	9588	933	33	1	2771	1	MIA3	1	222803319	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2462348	222803319	26447302	122	17590										
CAPN2	824	genome.wustl.edu	37	chr1	223947151	223947151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaggatggggatttctgcatCcgggtcttttctgaaaagaa	12	6	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:223947151C>T	ENST00000295006.5	+	12	1806	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.I421I	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	499	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ATTTCTGCATCCGGGTCTTTT	0.577																																																	0													56	57	57					1																	223947151		2203	4300	6503	SO:0001819	synonymous_variant	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1497C>T	1.37:g.223947151C>T			A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.I499	ENST00000295006.5	37	c.1497	CCDS31035.1	1																																																																																			CAPN2	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease		0.577	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	C	NM_001748		223947151	1	no_errors	ENST00000295006	ensembl	human	known	70_37	silent	SNP	1.000	T	T	223947151	C	T	223947151	2	4	117	1	0	0	0	0	0	0	0	1	2632	845	30	1		1	CAPN2	1	223947151	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1143832	223947151	25303470	123	17591										
CDC42BPA	8476	genome.wustl.edu	37	chr1	227262018	227262018	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaattcttcagtcattttaGaagctaaggcctgaagatac	7	9	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:227262018G>A	ENST00000366769.3	-	18	3819	c.2528C>T	c.(2527-2529)tCt>tTt	p.S843F	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S843F|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S762F|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S843F|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S843F|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S843F|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S843F|CDC42BPA_ENST00000488131.1_5'UTR	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTCATTTTAGAAGCTAAGGC	0.378																																																	0													103	100	101					1																	227262018		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2528C>T	1.37:g.227262018G>A	ENSP00000355731:p.Ser843Phe			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S843F	ENST00000366769.3	37	c.2528	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.105762	0.94292	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.56	5.56	0.83823	.	0.049845	0.85682	D	0.000000	T	0.57902	0.2085	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D;D	0.60160	0.985;0.973;0.977;0.987;0.973	P;P;D;D;P	0.64042	0.864;0.807;0.921;0.921;0.847	T	0.57866	-0.7737	10	0.72032	D	0.01	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	843;843;762;843;843	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2	.;.;.;.;.	F	843;762;843;843;843;107;843;843	ENSP00000355731:S843F;ENSP00000355729:S762F;ENSP00000335341:S843F;ENSP00000355728:S843F;ENSP00000355726:S843F;ENSP00000443275:S843F;ENSP00000355727:S843F	ENSP00000335341:S843F	S	-	2	0	CDC42BPA	225328641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.398000	0.73244	2.776000	0.95493	0.655000	0.94253	TCT	CDC42BPA	-	NULL		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	G	NM_014826		227262018	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	A	A	227262018	G	A	227262018	3	1	117	1	0	0	0	0	1	0	0	0	3077	942	33	1	2707	1	CDC42BPA	1	227262018	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3314867	227262018	21988603	124	17592										
TRIM67	440730	genome.wustl.edu	37	chr1	231333131	231333131	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttcaggcacaactatctcaGgccttaaatggagtttcaga	8	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:231333131G>C	ENST00000366653.5	+	2	1059	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	TRIM67_ENST00000449018.3_Missense_Mutation_p.Q291H|TRIM67_ENST00000444294.3_Missense_Mutation_p.Q353H|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q353H			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	353					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				AACTATCTCAGGCCTTAAATG	0.383																																																	0													128	117	120					1																	231333131		1879	4112	5991	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1059G>C	1.37:g.231333131G>C	ENSP00000355613:p.Gln353His		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.Q353H	ENST00000366653.5	37	c.1059	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592919	0.66219	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.64	4.54	0.55810	B-box, C-terminal (1);	0.130459	0.51477	D	0.000082	T	0.41558	0.1164	L	0.28458	0.855	0.48511	D	0.999663	B	0.20780	0.048	B	0.16289	0.015	T	0.25293	-1.0136	10	0.37606	T	0.19	.	15.4518	0.75279	0.0774:0.0:0.9226:0.0	.	353	Q6ZTA4	TRI67_HUMAN	H	353;353;291;353	ENSP00000412124:Q353H;ENSP00000355612:Q353H;ENSP00000400163:Q291H;ENSP00000355613:Q353H	ENSP00000355612:Q353H	Q	+	3	2	TRIM67	229399754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.428000	0.59894	2.643000	0.89663	0.655000	0.94253	CAG	TRIM67	-	smart_Bbox_C		0.383	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231333131	1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	1.000	C	C	231333131	G	C	231333131	3	2	117	1	0	0	0	0	1	0	0	0	16571	991	35	4	1065	4	TRIM67	1	231333131	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4071113	231333131	17917490	125	17593										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232600674	232600674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcctctttcgtaaaacactTtgatactcactaatccagat	3	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:232600674T>C	ENST00000366630.1	-	8	3090	c.2732A>G	c.(2731-2733)aAa>aGa	p.K911R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K911R|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	911					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTAAAACACTTTGATACTCAC	0.408																																																	0													88	87	87					1																	232600674		1972	4157	6129	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2732A>G	1.37:g.232600674T>C	ENSP00000355589:p.Lys911Arg		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.K911R	ENST00000366630.1	37	c.2732	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844710	0.71603	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.81163	-1.46;-1.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	L	0.48642	1.525	0.58432	D	0.999999	P	0.46952	0.887	P	0.50352	0.638	T	0.79780	-0.1659	10	0.30854	T	0.27	-29.8159	16.3829	0.83481	0.0:0.0:0.0:1.0	.	911	Q9P2F8	SI1L2_HUMAN	R	911	ENSP00000355589:K911R;ENSP00000262861:K911R	ENSP00000262861:K911R	K	-	2	0	SIPA1L2	230667297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.300000	0.72776	2.271000	0.75665	0.459000	0.35465	AAA	SIPA1L2	-	NULL		0.408	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	T	XM_045839		232600674	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	C	C	232600674	T	C	232600674	3	2	117	1	0	0	0	0	1	0	0	0	14360	1841	64	5	2496	5	SIPA1L2	1	232600674	Missense_Mutation	SNP	T	TCGA-EK-A3GK-01A-11D-A20U-09	1267543	232600674	16649947	126	17594										
ARID4B	51742	genome.wustl.edu	37	chr1	235338556	235338556	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attactgggttccttgagatCaggatccttatcaccattct	7	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:235338556C>G	ENST00000264183.3	-	22	4104	c.3607G>C	c.(3607-3609)Gat>Cat	p.D1203H	ARID4B_ENST00000349213.3_Missense_Mutation_p.D1117H|ARID4B_ENST00000366603.2_Missense_Mutation_p.D1203H|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1203					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCTTGAGATCAGGATCCTTA	0.398																																																	0													174	172	173					1																	235338556		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3607G>C	1.37:g.235338556C>G	ENSP00000264183:p.Asp1203His		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D1203H	ENST00000264183.3	37	c.3607	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510232	0.44660	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.24350	1.86;1.86;1.86	5.32	5.32	0.75619	.	0.625007	0.17842	N	0.160153	T	0.31575	0.0801	N	0.15975	0.35	0.44261	D	0.997118	D;P	0.76494	0.999;0.61	D;B	0.73380	0.98;0.326	T	0.03807	-1.1002	10	0.20519	T	0.43	-15.1741	14.2319	0.65898	0.1492:0.8508:0.0:0.0	.	1117;1203	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	H	1117;1203;1203	ENSP00000264184:D1117H;ENSP00000355562:D1203H;ENSP00000264183:D1203H	ENSP00000264183:D1203H	D	-	1	0	ARID4B	233405179	0.109000	0.22037	0.983000	0.44433	0.963000	0.63663	1.014000	0.29950	2.651000	0.90000	0.650000	0.86243	GAT	ARID4B	-	NULL		0.398	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235338556	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	0.985	G	G	235338556	C	G	235338556	3	3	117	1	0	0	0	0	1	0	0	0	920	826	29	1	343	1	ARID4B	1	235338556	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2737882	235338556	13912065	127	17595										
HEATR1	55127	genome.wustl.edu	37	chr1	236746396	236746396	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaccgagtcctccacggccAccctctgagtgctgttgagc	10	15	1	2	rs528453790		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:236746396A>T	ENST00000366582.3	-	18	2456	c.2342T>A	c.(2341-2343)gTg>gAg	p.V781E	HEATR1_ENST00000366581.2_Missense_Mutation_p.V781E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	781					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCCACGGCCACCCTCTGAGT	0.433																																																	0													154	149	151					1																	236746396		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2342T>A	1.37:g.236746396A>T	ENSP00000355541:p.Val781Glu		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.V781E	ENST00000366582.3	37	c.2342	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	8.202	0.798298	0.16397	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05855	3.41;3.38	5.56	5.56	0.83823	Armadillo-type fold (1);	0.971832	0.08500	N	0.936649	T	0.07188	0.0182	L	0.43152	1.355	0.09310	N	0.999996	B;B	0.32693	0.38;0.059	B;B	0.25759	0.063;0.022	T	0.29518	-1.0009	10	0.72032	D	0.01	.	7.9118	0.29796	0.8022:0.0:0.1978:0.0	.	781;781	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	E	781	ENSP00000355541:V781E;ENSP00000355540:V781E	ENSP00000355540:V781E	V	-	2	0	HEATR1	234813019	0.007000	0.16637	0.044000	0.18714	0.010000	0.07245	2.201000	0.42734	2.107000	0.64212	0.533000	0.62120	GTG	HEATR1	-	superfamily_ARM-type_fold		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	A	XM_375853		236746396	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.005	T	T	236746396	A	T	236746396	3	4	117	1	0	0	0	0	1	0	0	0	7047	159	6	5	4204	5	HEATR1	1	236746396	Missense_Mutation	SNP	A	TCGA-EK-A3GK-01A-11D-A20U-09	1407840	236746396	12504225	128	17596										
HEATR1	55127	genome.wustl.edu	37	chr1	236755358	236755358	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagctcttgttttttcagatCtgcaatttcctttaagtgtt	6	7	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:236755358C>A	ENST00000366582.3	-	11	1471	c.1357G>T	c.(1357-1359)Gat>Tat	p.D453Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.D453Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	453					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.D453N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTTTCAGATCTGCAATTTCC	0.318																																																	1	Substitution - Missense(1)	skin(1)											114	116	115					1																	236755358		2203	4299	6502	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1357G>T	1.37:g.236755358C>A	ENSP00000355541:p.Asp453Tyr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.D453Y	ENST00000366582.3	37	c.1357	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320365	0.41096	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.69040	-0.37;3.37	5.27	3.32	0.38043	Armadillo-type fold (1);	0.460702	0.23979	N	0.042684	T	0.64000	0.2559	L	0.59436	1.845	0.19775	N	0.999958	P	0.40875	0.731	B	0.44085	0.44	T	0.58370	-0.7648	10	0.72032	D	0.01	.	7.7246	0.28753	0.1335:0.7242:0.0:0.1423	.	453	Q9H583	HEAT1_HUMAN	Y	453	ENSP00000355541:D453Y;ENSP00000355540:D453Y	ENSP00000355540:D453Y	D	-	1	0	HEATR1	234821981	0.640000	0.27243	0.803000	0.32268	0.646000	0.38490	0.362000	0.20284	0.657000	0.30906	0.650000	0.86243	GAT	HEATR1	-	superfamily_ARM-type_fold		0.318	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236755358	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.108	A	A	236755358	C	A	236755358	3	1	117	1	0	0	0	0	1	0	0	0	7047	913	32	3	5217	3	HEATR1	1	236755358	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8962	236755358	12495263	129	17597										
RYR2	6262	genome.wustl.edu	37	chr1	237780711	237780711	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgtttccgatacaacgaagtCatgcaagccttaaacatgtc	7	11	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:237780711C>T	ENST00000366574.2	+	38	6158	c.5841C>T	c.(5839-5841)gtC>gtT	p.V1947V	RYR2_ENST00000542537.1_Silent_p.V1931V|RYR2_ENST00000360064.6_Silent_p.V1945V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACGAAGTCATGCAAGCCT	0.443																																																	0													103	96	99					1																	237780711		2007	4202	6209	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5841C>T	1.37:g.237780711C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1945	ENST00000366574.2	37	c.5835	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237780711	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	0.050	T	T	237780711	C	T	237780711	2	4	117	1	0	0	0	0	0	0	0	1	13799	813	29	1		1	RYR2	1	237780711	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1025353	237780711	11469910	130	17598										
FMN2	56776	genome.wustl.edu	37	chr1	240256491	240256491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgaggatgcgccccggggctCtccgggggaggagtgggccc	20	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:240256491C>T	ENST00000319653.9	+	1	1312	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	361					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCGGGGCTCTCCGGGGGAG	0.756																																																	0													5	9	8					1																	240256491		1905	3852	5757	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1082C>T	1.37:g.240256491C>T	ENSP00000318884:p.Ser361Phe		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.S361F	ENST00000319653.9	37	c.1082	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	9.407	1.079516	0.20309	.	.	ENSG00000155816	ENST00000319653	T	0.31769	1.48	3.9	3.9	0.45041	.	0.128366	0.35903	N	0.002910	T	0.23649	0.0572	L	0.47716	1.5	0.80722	D	1	B	0.24963	0.115	B	0.22152	0.038	T	0.18053	-1.0349	10	0.87932	D	0	.	5.0233	0.14372	0.2092:0.6822:0.0:0.1086	.	361	Q9NZ56	FMN2_HUMAN	F	361	ENSP00000318884:S361F	ENSP00000318884:S361F	S	+	2	0	FMN2	238323114	0.847000	0.29606	0.986000	0.45419	0.792000	0.44763	0.533000	0.23082	2.155000	0.67459	0.407000	0.27541	TCT	FMN2	-	NULL		0.756	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240256491	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.930	T	T	240256491	C	T	240256491	3	4	117	1	0	0	0	0	1	0	0	0	5968	913	32	1	1084	1	FMN2	1	240256491	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2475780	240256491	8994130	131	17599										
C1orf101	257044	genome.wustl.edu	37	chr1	244756713	244756713	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acaggtcatatctgaggcatCagccatcgaaaaacttggta	9	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:244756713C>T	ENST00000366534.4	+	16	2260	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*	C1orf101_ENST00000366533.4_Nonsense_Mutation_p.Q736*|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Nonsense_Mutation_p.Q585*	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	736						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTGAGGCATCAGCCATCGAA	0.323																																																	0													95	99	98					1																	244756713		2203	4300	6503	SO:0001587	stop_gained	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2206C>T	1.37:g.244756713C>T	ENSP00000355492:p.Gln736*		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Nonsense_Mutation	SNP	NULL	p.Q736*	ENST00000366534.4	37	c.2206	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712059	0.48517	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	.	.	.	4.03	-0.818	0.10833	.	2.624880	0.01660	N	0.025040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.4511	0.44522	0.6823:0.3177:0.0:0.0	.	.	.	.	X	736;736;736;656;585	.	ENSP00000355489:Q585X	Q	+	1	0	C1orf101	242823336	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.445000	0.06845	0.064000	0.16427	0.462000	0.41574	CAG	C1orf101	-	NULL		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	C	NM_173807		244756713	1	no_errors	ENST00000366534	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	244756713	C	T	244756713	4	4	117	1	0	0	0	0	0	1	0	0	1981	827	29	1	2268	1	C1orf101	1	244756713	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4500222	244756713	4493908	132	17600										
KIF26B	55083	genome.wustl.edu	37	chr1	245765894	245765894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacaggtgaaagtcatgcttCgcatctgttccaccttggct	9	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:245765894C>T	ENST00000407071.2	+	6	1806	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R75C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R456C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGTCATGCTTCGCATCTGTTC	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											50	51	51					1																	245765894		1990	4160	6150	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1366C>T	1.37:g.245765894C>T	ENSP00000385545:p.Arg456Cys		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R456C	ENST00000407071.2	37	c.1366	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023538	0.75390	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	Kinesin, motor domain (3);	.	.	.	.	T	0.80507	0.4636	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87219	0.2252	9	0.87932	D	0	.	19.1618	0.93535	0.0:1.0:0.0:0.0	.	75;456	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	456;75;72	ENSP00000385545:R456C;ENSP00000355475:R75C	ENSP00000355475:R75C	R	+	1	0	KIF26B	243832517	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.938000	0.56583	2.602000	0.87976	0.655000	0.94253	CGC	KIF26B	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.478	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	C	XM_371354		245765894	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	T	T	245765894	C	T	245765894	3	4	117	1	0	0	0	0	1	0	0	0	8315	884	31	1	1388	1	KIF26B	1	245765894	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1009181	245765894	3484727	133	17601										
SCCPDH	51097	genome.wustl.edu	37	chr1	246890254	246890254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgatattgctaatccagcctCgcttgatgaaatggctaaac	8	9	0	3	rs202160032		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:246890254C>T	ENST00000366510.3	+	2	627	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	84						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S84L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AATCCAGCCTCGCTTGATGAA	0.383																																																	1	Substitution - Missense(1)	lung(1)											138	119	125					1																	246890254		2203	4300	6503	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.251C>T	1.37:g.246890254C>T	ENSP00000355467:p.Ser84Leu		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.S84L	ENST00000366510.3	37	c.251	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.150028	0.94645	.	.	ENSG00000143653	ENST00000366510	T	0.48201	0.82	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82723	-0.0316	10	0.87932	D	0	.	15.6661	0.77230	0.0:0.933:0.0:0.0669	.	84	Q8NBX0	SCPDL_HUMAN	L	84	ENSP00000355467:S84L	ENSP00000355467:S84L	S	+	2	0	SCCPDH	244956877	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.207000	0.65197	2.941000	0.99782	0.655000	0.94253	TCG	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn		0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	C	NM_016002		246890254	1	no_errors	ENST00000366510	ensembl	human	known	70_37	missense	SNP	1.000	T	T	246890254	C	T	246890254	3	4	117	1	0	0	0	0	1	0	0	0	13915	893	31	1	257	1	SCCPDH	1	246890254	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1124360	246890254	2360367	134	17602										
AHCTF1	25909	genome.wustl.edu	37	chr1	247065857	247065857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccttcctccctgtcaccatGagatcgaaatttctctatac	5	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:247065857G>A	ENST00000391829.2	-	8	1210	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	AHCTF1_ENST00000326225.3_Missense_Mutation_p.H372Y|AHCTF1_ENST00000366508.1_Missense_Mutation_p.H398Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	363	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGTCACCATGAGATCGAAAT	0.413																																					Colon(145;197 1800 4745 15099 26333)												0													150	147	148					1																	247065857		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1087C>T	1.37:g.247065857G>A	ENSP00000375705:p.His363Tyr		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.H372Y	ENST00000391829.2	37	c.1114		1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704311	0.88924	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.22336	1.96;1.96;1.96	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.03945	-1.0990	10	0.30078	T	0.28	-18.8996	18.5704	0.91133	0.0:0.0:1.0:0.0	.	398;363	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Y	398;372;363	ENSP00000355464:H398Y;ENSP00000355465:H372Y;ENSP00000375705:H363Y	ENSP00000355465:H372Y	H	-	1	0	AHCTF1	245132480	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.173000	0.94815	2.471000	0.83476	0.563000	0.77884	CAT	AHCTF1	-	NULL		0.413	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		G	NM_015446		247065857	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	A	A	247065857	G	A	247065857	3	1	117	1	0	0	0	0	1	0	0	0	408	1290	45	1	5829	1	AHCTF1	1	247065857	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	175603	247065857	2184764	135	17603										
ZNF695	57116	genome.wustl.edu	37	chr1	247163260	247163260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctatcctcaccaagggagatCaggtttctgtagttctctaa	8	10	4	1	rs376791555		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:247163260C>T	ENST00000339986.7	-	2	267	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ZNF695_ENST00000487338.2_Silent_p.L40L|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L40L(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGGGAGATCAGGTTTCTGT	0.433																																																	1	Substitution - coding silent(1)	lung(1)											72	78	76					1																	247163260		2194	4295	6489	SO:0001819	synonymous_variant	57116				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.120G>A	1.37:g.247163260C>T			Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L40	ENST00000339986.7	37	c.120	CCDS44344.1	1																																																																																			ZNF695	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	C	NM_020394		247163260	-1	no_errors	ENST00000339986	ensembl	human	known	70_37	silent	SNP	0.677	T	T	247163260	C	T	247163260	2	4	117	1	0	0	0	0	0	0	0	1	18128	813	29	1		1	ZNF695	1	247163260	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	97403	247163260	2087361	136	17604										
OR2T10	127069	genome.wustl.edu	37	chr1	248756599	248756599	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atggcgatgggagtgagcatGaagccatccactgagcccac	13	11	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:248756599G>A	ENST00000330500.2	-	1	501	c.471C>T	c.(469-471)ttC>ttT	p.F157F	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGTGAGCATGAAGCCATCCA	0.537																																																	0													111	118	115					1																	248756599		2049	4235	6284	SO:0001819	synonymous_variant	127069				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.471C>T	1.37:g.248756599G>A			B2RNK7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F157	ENST00000330500.2	37	c.471	CCDS31121.1	1																																																																																			OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	G	NM_001004693		248756599	-1	no_errors	ENST00000330500	ensembl	human	known	70_37	silent	SNP	0.002	A	A	248756599	G	A	248756599	2	1	117	1	0	0	0	0	0	0	0	1	11041	1281	45	1		1	OR2T10	1	248756599	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1593339	248756599	494022	137	17605										
TPO	7173	genome.wustl.edu	37	chr2	1457477	1457477	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctccacagagaccaccccaGatggggcgcctccaacacgg	10	17	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:1457477G>T	ENST00000345913.4	+	6	585	c.494G>T	c.(493-495)aGa>aTa	p.R165I	TPO_ENST00000346956.3_Missense_Mutation_p.R165I|TPO_ENST00000337415.3_Missense_Mutation_p.R165I|TPO_ENST00000382198.1_Missense_Mutation_p.R165I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.R165I|TPO_ENST00000349624.3_Missense_Mutation_p.R165I|TPO_ENST00000329066.4_Missense_Mutation_p.R165I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	165					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCACCCCAGATGGGGCGCC	0.562																																																	0													71	80	77					2																	1457477		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.494G>T	2.37:g.1457477G>T	ENSP00000318820:p.Arg165Ile		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R165I	ENST00000345913.4	37	c.494	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061093	0.19987	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T	0.73363	0.38;0.38;0.38;0.38;0.38;0.38;-0.74;0.38;0.38	5.27	3.39	0.38822	.	0.362433	0.29459	N	0.012087	T	0.76126	0.3944	L	0.57536	1.79	0.09310	N	0.999997	P;D;P;P	0.55172	0.878;0.97;0.935;0.9	P;P;P;P	0.51016	0.524;0.545;0.524;0.656	T	0.67444	-0.5669	10	0.23302	T	0.38	-5.7389	14.9613	0.71158	0.0:0.412:0.588:0.0	.	165;165;165;165	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	I	165;165;165;165;165;165;165;165;94	ENSP00000337263:R165I;ENSP00000318820:R165I;ENSP00000263886:R165I;ENSP00000332044:R165I;ENSP00000329869:R165I;ENSP00000371636:R165I;ENSP00000390994:R165I;ENSP00000371633:R165I;ENSP00000405788:R94I	ENSP00000329869:R165I	R	+	2	0	TPO	1436484	0.015000	0.18098	0.112000	0.21494	0.032000	0.12392	1.735000	0.38176	0.537000	0.28751	0.557000	0.71058	AGA	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1457477	1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.006	T	T	1457477	G	T	1457477	3	4	117	1	0	0	0	0	1	0	0	0	16441	942	33	3	512	3	TPO	2	1457477	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		1457477	241741896	138	17606										
MYT1L	23040	genome.wustl.edu	37	chr2	1920995	1920995	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actttctggagggaccctatCtttgtgcgggcatccggaca	12	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:1920995C>A	ENST00000399161.2	-	11	2347	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D532Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	534					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGACCCTATCTTTGTGCGGG	0.562																																																	0													195	204	201					2																	1920995		2056	4187	6243	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1600G>T	2.37:g.1920995C>A	ENSP00000382114:p.Asp534Tyr		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D534Y	ENST00000399161.2	37	c.1600		2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783599	0.90282	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.52754	0.67;0.65	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78409	-0.2215	10	0.72032	D	0.01	-44.5056	19.8984	0.96975	0.0:1.0:0.0:0.0	.	534;532	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	534;480;532	ENSP00000382114:D534Y;ENSP00000396103:D532Y	ENSP00000295067:D480Y	D	-	1	0	MYT1L	1900002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.713000	0.92767	0.655000	0.94253	GAT	MYT1L	-	NULL		0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1920995	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1920995	C	A	1920995	3	1	117	1	0	0	0	0	1	0	0	0	10130	913	32	3	2020	3	MYT1L	2	1920995	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	463518	1920995	241278378	139	17607										
TTC15	51112	genome.wustl.edu	37	chr2	3481508	3481508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaagtattttcaagacgttGagaaagtaacacagaaatta	7	4	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:3481508G>A	ENST00000324266.5	+	10	2014	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E607K	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	607					vesicle-mediated transport (GO:0016192)												TCAAGACGTTGAGAAAGTAAC	0.289																																																	0													66	72	70					2																	3481508		2203	4299	6502	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1819G>A	2.37:g.3481508G>A	ENSP00000324318:p.Glu607Lys		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E607K	ENST00000324266.5	37	c.1819	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542981	0.86022	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	T;T;T	0.75367	-0.93;-0.93;-0.93	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.992;0.997	P;P	0.61003	0.83;0.882	D	0.84023	0.0355	10	0.46703	T	0.11	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	596;607	E7ENL7;Q8WVT3	.;TPC12_HUMAN	K	607;596;607;106	ENSP00000371544:E607K;ENSP00000324318:E607K;ENSP00000396592:E106K	ENSP00000303612:E596K	E	+	1	0	TTC15	3460515	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.748000	0.91615	2.879000	0.98667	0.650000	0.86243	GAG	TRAPPC12	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.289	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	G	NM_016030		3481508	1	no_errors	ENST00000324266	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3481508	G	A	3481508	3	1	117	1	0	0	0	0	1	0	0	0	16713	1291	45	1	1853	1	TTC15	2	3481508	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1560513	3481508	239717865	140	17608										
RSAD2	91543	genome.wustl.edu	37	chr2	7033825	7033825	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaagactcctaccttattctGgatgaatatgtgagtatttc	7	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:7033825G>C	ENST00000382040.3	+	5	1048	c.912G>C	c.(910-912)ctG>ctC	p.L304L	RSAD2_ENST00000541728.1_Silent_p.L197L	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACCTTATTCTGGATGAATATG	0.333																																																	0													113	114	114					2																	7033825		2203	4300	6503	SO:0001819	synonymous_variant	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.912G>C	2.37:g.7033825G>C				Silent	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB	p.L304	ENST00000382040.3	37	c.912	CCDS1656.1	2																																																																																			RSAD2	-	NULL		0.333	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD2	HGNC	protein_coding	OTTHUMT00000206724.2	G	NM_080657		7033825	1	no_errors	ENST00000382040	ensembl	human	known	70_37	silent	SNP	1.000	C	C	7033825	G	C	7033825	2	2	117	1	0	0	0	0	0	0	0	1	13725	1335	47	4		4	RSAD2	2	7033825	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3552317	7033825	236165548	141	17609										
KIDINS220	57498	genome.wustl.edu	37	chr2	8931331	8931331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atatccaagcatgtcaccgtCtgtttcagtaggagacaagt	9	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:8931331C>G	ENST00000256707.3	-	13	1481	c.1300G>C	c.(1300-1302)Gac>Cac	p.D434H	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D434H|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D434H|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D435H|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D392H	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	434					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGTCACCGTCTGTTTCAGTA	0.393																																																	0													85	82	83					2																	8931331		1904	4122	6026	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1300G>C	2.37:g.8931331C>G	ENSP00000256707:p.Asp434His		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D434H	ENST00000256707.3	37	c.1300	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843873	0.71488	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.68025	0.83;-0.3;-0.26;-0.18;-0.26;-0.22;-0.21	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.89917	0.99;0.997;1.0;1.0	P;D;D;D	0.91635	0.647;0.96;0.999;0.998	T	0.75345	-0.3350	10	0.52906	T	0.07	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	435;435;392;434	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	H	181;118;434;434;392;434;435;435	ENSP00000420364:D181H;ENSP00000256707:D434H;ENSP00000411849:D434H;ENSP00000414923:D392H;ENSP00000418974:D434H;ENSP00000419964:D435H;ENSP00000319947:D435H	ENSP00000256707:D434H	D	-	1	0	KIDINS220	8848782	1.000000	0.71417	0.107000	0.21349	0.436000	0.31835	7.372000	0.79612	2.716000	0.92895	0.655000	0.94253	GAC	KIDINS220	-	NULL		0.393	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8931331	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	0.995	G	G	8931331	C	G	8931331	3	3	117	1	0	0	0	0	1	0	0	0	8291	913	32	1	4087	1	KIDINS220	2	8931331	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1897506	8931331	234268042	142	17610										
TP53I3	9540	genome.wustl.edu	37	chr2	24300579	24300579	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacgttgggggccctccgtgGagaagtgaggcagaatttgc	17	8	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:24300579G>C	ENST00000238721.4	-	5	1723	c.869C>G	c.(868-870)tCc>tGc	p.S290C	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Silent_p.L224L|SF3B14_ENST00000233468.4_5'Flank|TP53I3_ENST00000407482.1_Silent_p.L224L|TP53I3_ENST00000335934.4_Missense_Mutation_p.S290C|TP53I3_ENST00000417886.1_5'Flank	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	290					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTCCGTGGAGAAGTGAGG	0.532																																																	0													84	75	78					2																	24300579		2203	4300	6503	SO:0001583	missense	9540			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.869C>G	2.37:g.24300579G>C	ENSP00000238721:p.Ser290Cys		D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	p.S290C	ENST00000238721.4	37	c.869	CCDS1708.1	2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095280	0.56075	.	.	ENSG00000115129	ENST00000335934;ENST00000238721	T;T	0.30448	1.53;1.53	5.07	5.07	0.68467	.	0.297152	0.24010	N	0.042392	T	0.27384	0.0672	.	.	.	0.80722	D	1	B;B	0.17268	0.021;0.006	B;B	0.09377	0.004;0.002	T	0.04579	-1.0941	9	0.59425	D	0.04	-27.4472	13.7876	0.63119	0.0:0.2742:0.7258:0.0	.	201;290	B4DMQ7;Q53FA7	.;QORX_HUMAN	C	290	ENSP00000337834:S290C;ENSP00000238721:S290C	ENSP00000238721:S290C	S	-	2	0	TP53I3	24154083	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	3.771000	0.55318	2.521000	0.84997	0.655000	0.94253	TCC	TP53I3	-	smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3		0.532	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I3	HGNC	protein_coding	OTTHUMT00000207618.2	G	NM_004881		24300579	-1	no_errors	ENST00000238721	ensembl	human	known	70_37	missense	SNP	0.988	C	C	24300579	G	C	24300579	3	2	117	1	0	0	0	0	1	0	0	0	16418	1174	41	1	133	1	TP53I3	2	24300579	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	15369248	24300579	218898794	143	17611										
ITSN2	50618	genome.wustl.edu	37	chr2	24469689	24469689	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatgaaaggcaggtgtggctCtttcactacttggacccaaa	11	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:24469689C>G	ENST00000355123.4	-	28	3805	c.3362G>C	c.(3361-3363)aGa>aCa	p.R1121T	ITSN2_ENST00000361999.3_Missense_Mutation_p.R1094T|ITSN2_ENST00000406921.3_Missense_Mutation_p.R1121T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1121					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGTGGCTCTTTCACTACT	0.378																																																	0													104	104	104					2																	24469689		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3362G>C	2.37:g.24469689C>G	ENSP00000347244:p.Arg1121Thr		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.R1121T	ENST00000355123.4	37	c.3362	CCDS1710.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.77|14.77	2.635580|2.635580	0.47049|0.47049	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000416160|ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.|T;T;T;T	.|0.16743	.|2.32;2.32;2.32;2.32	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Src homology-3 domain (2);	.|0.000000	.|0.35739	.|U	.|0.003009	T|T	0.13927|0.13927	0.0337|0.0337	N|N	0.21324|0.21324	0.655|0.655	0.50467|0.50467	D|D	0.999878|0.999878	.|P;P;P	.|0.41848	.|0.763;0.763;0.651	.|B;B;B	.|0.42282	.|0.382;0.116;0.054	T|T	0.01081|0.01081	-1.1458|-1.1458	5|10	.|0.72032	.|D	.|0.01	.|.	10.4267|10.4267	0.44383|0.44383	0.0:0.8551:0.0:0.1449|0.0:0.8551:0.0:0.1449	.|.	.|1121;1094;1121	.|Q9NZM3-3;Q9NZM3-2;Q9NZM3	.|.;.;ITSN2_HUMAN	Q|T	49|1094;1121;1094;1121	.|ENSP00000354561:R1094T;ENSP00000347244:R1121T;ENSP00000370250:R1094T;ENSP00000384499:R1121T	.|ENSP00000347244:R1121T	E|R	-|-	1|2	0|0	ITSN2|ITSN2	24323193|24323193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.280000|2.280000	0.43443|0.43443	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	GAG|AGA	ITSN2	-	superfamily_SH3_domain		0.378	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24469689	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24469689	C	G	24469689	3	3	117	1	0	0	0	0	1	0	0	0	7947	913	32	1	1834	1	ITSN2	2	24469689	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	169110	24469689	218729684	144	17612										
ASXL2	55252	genome.wustl.edu	37	chr2	25972626	25972627	+	Frame_Shift_Del	DEL	GA	GA	-													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tattgagaaagggctgtggtGagacctgaaatggctgctgg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:25972626_25972627delGA	ENST00000435504.4	-	12	2091_2092	c.1798_1799delTC	c.(1798-1800)tcafs	p.S600fs	ASXL2_ENST00000404843.1_Frame_Shift_Del_p.S340fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.S572fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.S340fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	600					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGTGGTGAGACCTGAAAT	0.52																																																	0																																										SO:0001589	frameshift_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1798_1799delTC	2.37:g.25972628_25972629delGA	ENSP00000391447:p.Ser600fs		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	superfamily_Znf_FYVE_PHD	p.S600fs	ENST00000435504.4	37	c.1799_1798		2																																																																																			ASXL2	-	NULL		0.52	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	GA	NM_018263		25972627	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	frame_shift_del	DEL	0.215:0.247	-	-	25972627	GA	-	25972626	7	5	117	1	0	1	0	1	0	0	0	0	1068	1294	45	0	2516	0	ASXL2	2	25972626	Frame_Shift_Del	DEL	GA	TCGA-EK-A3GK-01A-11D-A20U-09	1502937	25972626	217226747	145	17613										
KIF3C	3797	genome.wustl.edu	37	chr2	26152236	26152236	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaaagctgtccaatcgcatGagcctctccatgtgtagcgc	10	12	1	2	rs374585543		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:26152236G>A	ENST00000264712.3	-	7	2805	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	KIF3C_ENST00000496378.1_5'Flank|KIF3C_ENST00000405914.1_Silent_p.L742L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	742	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATCGCATGAGCCTCTCCA	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		19820	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	122	109	113		2226	3.6	1	2		113	0,8600		0,0,4300	no	coding-synonymous	KIF3C	NM_002254.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		742/794	26152236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2226C>T	2.37:g.26152236G>A			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L742	ENST00000264712.3	37	c.2226	CCDS1719.1	2																																																																																			KIF3C	-	NULL		0.522	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	G			26152236	-1	no_errors	ENST00000264712	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26152236	G	A	26152236	2	1	117	1	0	0	0	0	0	0	0	1	8322	1277	45	1		1	KIF3C	2	26152236	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	179610	26152236	217047137	146	17614										
AGBL5	60509	genome.wustl.edu	37	chr2	27293078	27293078	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggtcccttgggccaacctGaggtttgttttgtccctaaa	12	10	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27293078G>C	ENST00000360131.4	+	15	2767	c.2608G>C	c.(2608-2610)Gag>Cag	p.E870Q		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	870					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCAACCTGAGGTTTGTTT	0.532																																																	0													138	129	132					2																	27293078		1855	4097	5952	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2608G>C	2.37:g.27293078G>C	ENSP00000353249:p.Glu870Gln		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.E870Q	ENST00000360131.4	37	c.2608	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534780	0.45073	.	.	ENSG00000084693	ENST00000360131	T	0.16897	2.31	5.21	5.21	0.72293	.	0.368768	0.28453	N	0.015285	T	0.13415	0.0325	N	0.19112	0.55	0.30792	N	0.740772	B	0.30193	0.272	B	0.31290	0.127	T	0.07065	-1.0792	10	0.66056	D	0.02	0.0432	14.1194	0.65177	0.0:0.0:1.0:0.0	.	870	Q8NDL9	CBPC5_HUMAN	Q	870	ENSP00000353249:E870Q	ENSP00000353249:E870Q	E	+	1	0	AGBL5	27146582	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	4.206000	0.58473	2.716000	0.92895	0.561000	0.74099	GAG	AGBL5	-	NULL		0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27293078	1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	0.994	C	C	27293078	G	C	27293078	3	2	117	1	0	0	0	0	1	0	0	0	378	1291	45	1	2727	1	AGBL5	2	27293078	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1140842	27293078	215906295	147	17615										
EMILIN1	11117	genome.wustl.edu	37	chr2	27306543	27306543	+	Nonsense_Mutation	SNP	G	G	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggccacagagcatgctacaGagagtgaagagcgcttccga					rs370534632		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27306543G>T	ENST00000380320.4	+	4	2603	c.2104G>T	c.(2104-2106)Gag>Tag	p.E702*		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	702					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGCTACAGAGAGTGAAGA	0.612																																																	0													93	94	93					2																	27306543		2203	4300	6503	SO:0001587	stop_gained	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2104G>T	2.37:g.27306543G>T	ENSP00000369677:p.Glu702*		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Nonsense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.E702*	ENST00000380320.4	37	c.2104	CCDS1733.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.757456|9.757456	0.99256|0.99256	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000380320;ENST00000544143|ENST00000433140	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.063417|.	0.64402|.	D|.	0.000009|.	.|T	.|0.66470	.|0.2792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70048	.|-0.4979	.|3	0.07644|.	T|.	0.81|.	-26.159|-26.159	15.5879|15.5879	0.76499|0.76499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	702;28|27	.|.	ENSP00000369677:E702X|.	E|Q	+|+	1|3	0|2	EMILIN1|EMILIN1	27160047|27160047	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.783000|0.783000	0.44284|0.44284	4.158000|4.158000	0.58150|0.58150	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	GAG|CAG	EMILIN1	-	NULL		0.612	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	G	NM_007046		27306543	1	no_errors	ENST00000380320	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	27306543	G	T	27306543	4	4	117	1	0	0	0	0	0	1	0	0	5105	943	33	3	2118	3	EMILIN1	2	27306543	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	13465	27306543	215892830	148	17616	95	2								
EMILIN1	11117	genome.wustl.edu	37	chr2	27306552	27306552	+	Nonsense_Mutation	SNP	G	G	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcatgctacagagagtgaaGagcgcttccgaggcctagag							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27306552G>T	ENST00000380320.4	+	4	2612	c.2113G>T	c.(2113-2115)Gag>Tag	p.E705*		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	705					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAGTGAAGAGCGCTTCCG	0.602																																																	0													94	96	95					2																	27306552		2203	4300	6503	SO:0001587	stop_gained	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2113G>T	2.37:g.27306552G>T	ENSP00000369677:p.Glu705*		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Nonsense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.E705*	ENST00000380320.4	37	c.2113	CCDS1733.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.789634|9.789634	0.99264|0.99264	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000380320;ENST00000544143|ENST00000433140	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.338975|.	0.28828|.	N|.	0.014006|.	.|T	.|0.66470	.|0.2792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70048	.|-0.4979	.|3	0.20519|.	T|.	0.43|.	-26.6798|-26.6798	15.5879|15.5879	0.76499|0.76499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	705;31|30	.|.	ENSP00000369677:E705X|.	E|K	+|+	1|3	0|2	EMILIN1|EMILIN1	27160056|27160056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	6.040000|6.040000	0.70980|0.70980	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	GAG|AAG	EMILIN1	-	NULL		0.602	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	G	NM_007046		27306552	1	no_errors	ENST00000380320	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27306552	G	T	27306552	4	4	117	1	0	0	0	0	0	1	0	0	5105	943	33	3	2127	3	EMILIN1	2	27306552	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9	27306552	215892821	149	17617	95	2								
TRIM54	57159	genome.wustl.edu	37	chr2	27505756	27505756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtgccgcaaatgtgccaacGacgtcttccaggtgggtgcc	13	12	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27505756G>A	ENST00000380075.2	+	1	497	c.157G>A	c.(157-159)Gac>Aac	p.D53N	TRIM54_ENST00000296098.4_Missense_Mutation_p.D53N	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	53					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTGCCAACGACGTCTTCCA	0.592																																																	0													189	166	174					2																	27505756		2203	4300	6503	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.157G>A	2.37:g.27505756G>A	ENSP00000369415:p.Asp53Asn		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.D53N	ENST00000380075.2	37	c.157	CCDS1746.2	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446763	0.84101	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	D;D	0.84442	-1.85;-1.85	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	N	0.10707	0.03	0.80722	D	1	B;P	0.34757	0.104;0.467	B;B	0.36808	0.103;0.233	T	0.72734	-0.4204	10	0.22706	T	0.39	-33.5923	16.858	0.86010	0.0:0.0:1.0:0.0	.	53;53	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	N	53	ENSP00000369415:D53N;ENSP00000296098:D53N	ENSP00000296098:D53N	D	+	1	0	TRIM54	27359260	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	9.694000	0.98686	2.568000	0.86640	0.462000	0.41574	GAC	TRIM54	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	G	NM_187841		27505756	1	no_errors	ENST00000296098	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27505756	G	A	27505756	3	1	117	1	0	0	0	0	1	0	0	0	16559	1058	37	1	159	1	TRIM54	2	27505756	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	199204	27505756	215693617	150	17618										
GTF3C2	2976	genome.wustl.edu	37	chr2	27551770	27551770	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaaccaaggtaaccagcgtCaatataatgaatcccacaga	7	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27551770C>G	ENST00000359541.2	-	15	2497	c.2068G>C	c.(2068-2070)Gac>Cac	p.D690H	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D690H			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	690					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACCAGCGTCAATATAATGA	0.393																																																	0													68	70	69					2																	27551770		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2068G>C	2.37:g.27551770C>G	ENSP00000352536:p.Asp690His		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D690H	ENST00000359541.2	37	c.2068	CCDS1749.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.759399|3.759399	0.69763|0.69763	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000454704;ENST00000415683	T;T|.	0.74526|.	-0.85;-0.85|.	5.5|5.5	5.5|5.5	0.81552|0.81552	WD40 repeat-like-containing domain (1);|.	0.047686|.	0.85682|.	D|.	0.000000|.	T|T	0.55800|0.55800	0.1943|0.1943	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.49214|0.49214	-0.8963|-0.8963	10|5	0.35671|.	T|.	0.21|.	-16.3645|-16.3645	17.2462|17.2462	0.87029|0.87029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	690|.	Q8WUA4|.	TF3C2_HUMAN|.	H|F	690|198;91	ENSP00000352536:D690H;ENSP00000264720:D690H|.	ENSP00000264720:D690H|.	D|L	-|-	1|3	0|2	GTF3C2|GTF3C2	27405274|27405274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	6.682000|6.682000	0.74528|0.74528	2.758000|2.758000	0.94735|0.94735	0.561000|0.561000	0.74099|0.74099	GAC|TTG	GTF3C2	-	superfamily_WD40_repeat_dom		0.393	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	C			27551770	-1	no_errors	ENST00000264720	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27551770	C	G	27551770	3	3	117	1	0	0	0	0	1	0	0	0	6893	826	29	1	687	1	GTF3C2	2	27551770	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	46014	27551770	215647603	151	17619										
IFT172	26160	genome.wustl.edu	37	chr2	27679448	27679448	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagcagtctaactgcagcctCtcctcccaggctctttgccc	7	17	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27679448C>T	ENST00000260570.3	-	30	3404	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1101					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACTGCAGCCTCTCCTCCCAGG	0.542																																																	0													131	123	125					2																	27679448		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3301G>A	2.37:g.27679448C>T	ENSP00000260570:p.Glu1101Lys		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.E1101K	ENST00000260570.3	37	c.3301	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.259353	0.95368	.	.	ENSG00000138002	ENST00000260570	T	0.54675	0.56	5.99	4.13	0.48395	.	0.044813	0.85682	N	0.000000	T	0.69584	0.3127	M	0.84326	2.69	0.80722	D	1	D	0.65815	0.995	P	0.62560	0.904	T	0.71626	-0.4536	10	0.59425	D	0.04	-12.0212	10.5161	0.44889	0.0:0.8382:0.0:0.1618	.	1101	Q9UG01	IF172_HUMAN	K	1101	ENSP00000260570:E1101K	ENSP00000260570:E1101K	E	-	1	0	IFT172	27532952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.659000	0.68010	0.802000	0.34089	0.655000	0.94253	GAG	IFT172	-	NULL		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27679448	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27679448	C	T	27679448	3	4	117	1	0	0	0	0	1	0	0	0	7577	922	32	1	2024	1	IFT172	2	27679448	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	127678	27679448	215519925	152	17620										
C2orf16	84226	genome.wustl.edu	37	chr2	27802541	27802541	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtaaagtcagagtcttccctCagcatattttacgatagaga	8	8	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27802541C>G	ENST00000408964.2	+	1	3153	c.3102C>G	c.(3100-3102)ctC>ctG	p.L1034L	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1034						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGTCTTCCCTCAGCATATTTT	0.458																																																	0													99	103	102					2																	27802541		2104	4248	6352	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3102C>G	2.37:g.27802541C>G			B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	NULL	p.L1034	ENST00000408964.2	37	c.3102	CCDS42666.1	2																																																																																			C2orf16	-	NULL		0.458	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	C	NM_032266		27802541	1	no_errors	ENST00000408964	ensembl	human	known	70_37	silent	SNP	0.061	G	G	27802541	C	G	27802541	2	3	117	1	0	0	0	0	0	0	0	1	2162	813	29	1		1	C2orf16	2	27802541	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	123093	27802541	215396832	153	17621										
WDR43	23160	genome.wustl.edu	37	chr2	29152532	29152532	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agacgaatagctttccagttCttcttacccagggcttagaa	8	10	2	2	rs371667538		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:29152532C>T	ENST00000407426.3	+	11	1449	c.1393C>T	c.(1393-1395)Ctt>Ttt	p.L465F	SNORD53_ENST00000579969.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA|Y_RNA_ENST00000410292.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	465						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTTTCCAGTTCTTCTTACCCA	0.343																																																	0								C	PHE/LEU	1,3659		0,1,1829	103	102	102		1393	4.9	1	2		102	0,8190		0,0,4095	no	missense	WDR43	NM_015131.1	22	0,1,5924	TT,TC,CC		0.0,0.0273,0.0084	probably-damaging	465/678	29152532	1,11849	1830	4095	5925	SO:0001583	missense	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1393C>T	2.37:g.29152532C>T	ENSP00000384302:p.Leu465Phe		Q15395|Q92577	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L465F	ENST00000407426.3	37	c.1393	CCDS46251.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953208	0.73902	2.73E-4	0.0	ENSG00000163811	ENST00000407426	T	0.78816	-1.21	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	D	0.86941	0.2079	10	0.72032	D	0.01	-13.2233	10.8165	0.46580	0.0:0.8564:0.0:0.1435	.	465	Q15061	WDR43_HUMAN	F	465	ENSP00000384302:L465F	ENSP00000384302:L465F	L	+	1	0	WDR43	29006036	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.083000	0.50136	1.462000	0.47948	0.655000	0.94253	CTT	WDR43	-	NULL		0.343	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	C	XM_087089		29152532	1	no_errors	ENST00000407426	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29152532	C	T	29152532	3	4	117	1	0	0	0	0	1	0	0	0	17326	913	32	1	1435	1	WDR43	2	29152532	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1349991	29152532	214046841	154	17622										
WDR43	23160	genome.wustl.edu	37	chr2	29165188	29165188	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttcttccaggtaacagcatCagagaagacaaagggagcaa	10	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:29165188C>A	ENST00000407426.3	+	16	1801	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	582						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GTAACAGCATCAGAGAAGACA	0.448																																																	0													107	103	105					2																	29165188		1915	4122	6037	SO:0001587	stop_gained	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1745C>A	2.37:g.29165188C>A	ENSP00000384302:p.Ser582*		Q15395|Q92577	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S582*	ENST00000407426.3	37	c.1745	CCDS46251.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845150|2.845150	0.51164|0.51164	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000446643|ENST00000407426	.|.	.|.	.|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.127979	.|0.53938	.|D	.|0.000049	T|.	0.27384|.	0.0672|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23726|.	-1.0180|.	3|.	.|0.02654	.|T	.|1	-12.9578|-12.9578	12.236|12.236	0.54516|0.54516	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	.|.	.|.	.|.	K|X	134|582	.|.	.|ENSP00000384302:S582X	Q|S	+|+	1|2	0|0	WDR43|WDR43	29018692|29018692	0.086000|0.086000	0.21541|0.21541	1.000000|1.000000	0.80357|0.80357	0.484000|0.484000	0.33280|0.33280	1.912000|1.912000	0.39946|0.39946	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	CAG|TCA	WDR43	-	superfamily_ARM-type_fold		0.448	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	C	XM_087089		29165188	1	no_errors	ENST00000407426	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	29165188	C	A	29165188	4	1	117	1	0	0	0	0	0	1	0	0	17326	838	29	3	1807	3	WDR43	2	29165188	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	12656	29165188	214034185	155	17623										
NLRC4	58484	genome.wustl.edu	37	chr2	32463279	32463279	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcacagggttcacttgacaGagacttgactatgtaatcca	9	9	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:32463279G>A	ENST00000404025.2	-	7	2931	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L	NLRC4_ENST00000342905.6_Silent_p.L150L|NLRC4_ENST00000360906.5_Silent_p.L815L|NLRC4_ENST00000402280.1_Silent_p.L815L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	815					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCACTTGACAGAGACTTGACT	0.403																																																	0													173	166	168					2																	32463279		2203	4300	6503	SO:0001819	synonymous_variant	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2443C>T	2.37:g.32463279G>A			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.L815	ENST00000404025.2	37	c.2443	CCDS33174.1	2																																																																																			NLRC4	-	NULL		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	G	NM_021209		32463279	-1	no_errors	ENST00000360906	ensembl	human	known	70_37	silent	SNP	0.414	A	A	32463279	G	A	32463279	2	1	117	1	0	0	0	0	0	0	0	1	10493	933	33	1		1	NLRC4	2	32463279	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3298091	32463279	210736094	156	17624										
BIRC6	57448	genome.wustl.edu	37	chr2	32678919	32678919	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagctgctgagggtagtttCacatctctcactggactttt	9	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:32678919C>T	ENST00000421745.2	+	23	4796	c.4662C>T	c.(4660-4662)ttC>ttT	p.F1554F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1554					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGGGTAGTTTCACATCTCTCA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)												0													207	190	195					2																	32678919		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4662C>T	2.37:g.32678919C>T			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.F1554	ENST00000421745.2	37	c.4662	CCDS33175.2	2																																																																																			BIRC6	-	NULL		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32678919	1	no_errors	ENST00000421745	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32678919	C	T	32678919	2	4	117	1	0	0	0	0	0	0	0	1	1439	825	29	1		1	BIRC6	2	32678919	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	215640	32678919	210520454	157	17625										
RASGRP3	25780	genome.wustl.edu	37	chr2	33783806	33783806	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatttagacagcagagccatCacactggttacaggctcttc	9	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:33783806C>T	ENST00000403687.3	+	17	2513	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.I591I|RASGRP3_ENST00000407811.1_Silent_p.I590I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	591					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCAGAGCCATCACACTGGTTA	0.542																																																	0													77	72	74					2																	33783806		1987	4184	6171	SO:0001819	synonymous_variant	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1773C>T	2.37:g.33783806C>T			D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.I591	ENST00000403687.3	37	c.1773	CCDS46256.1	2																																																																																			RASGRP3	-	NULL		0.542	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	C	NM_015376		33783806	1	no_errors	ENST00000402538	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33783806	C	T	33783806	2	4	117	1	0	0	0	0	0	0	0	1	13106	816	29	1		1	RASGRP3	2	33783806	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1104887	33783806	209415567	158	17626										
FEZ2	9637	genome.wustl.edu	37	chr2	36805804	36805806	+	In_Frame_Del	DEL	TTC	TTC	-													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgccattttttagtttctttTtcttttttgctgtttctttg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:36805804_36805806delTTC	ENST00000405912.3	-	5	836_838	c.837_839delGAA	c.(835-840)aagaaa>aaa	p.279_280KK>K	FEZ2_ENST00000379245.4_In_Frame_Del_p.279_280KK>K|FEZ2_ENST00000305852.7_In_Frame_Del_p.108_109KK>K	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	279	Poly-Lys.				axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TAGTTTCTTTTTCTTTTTTGCTG	0.389																																																	0																																										SO:0001651	inframe_deletion	9637			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.837_839delGAA	2.37:g.36805804_36805806delTTC	ENSP00000385112:p.Lys282del		Q5EBN3|Q76LN0|Q99690	In_Frame_Del	DEL	pfam_FEZ	p.K282in_frame_del	ENST00000405912.3	37	c.839_837	CCDS46257.1	2																																																																																			FEZ2	-	pfam_FEZ		0.389	FEZ2-002	KNOWN	basic|CCDS	protein_coding	FEZ2	HGNC	protein_coding	OTTHUMT00000325432.1	TTC			36805806	-1	no_errors	ENST00000405912	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	36805806	TTC	-	36805804	7	5	117	1	0	1	0	1	0	0	0	0	5842	1841	64	0	323	0	FEZ2	2	36805804	In_Frame_Del	DEL	TTC	TCGA-EK-A3GK-01A-11D-A20U-09	3021998	36805804	206393569	159	17627										
EIF2AK2	5610	genome.wustl.edu	37	chr2	37365460	37365460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcactgttagaatttatctCtgatgtatctgctgagaagt	9	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:37365460C>G	ENST00000233057.4	-	8	962	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E214Q|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E214Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	214					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAATTTATCTCTGATGTATCT	0.338																																																	0													116	120	118					2																	37365460		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.640G>C	2.37:g.37365460C>G	ENSP00000233057:p.Glu214Gln		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E214Q	ENST00000233057.4	37	c.640	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	C	7.075	0.569079	0.13560	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.76060	-0.93;-0.93;-0.99	2.93	-1.28	0.09318	.	1.443390	0.04561	N	0.391600	T	0.65471	0.2694	L	0.54908	1.71	0.09310	N	1	B;B;B;B	0.16396	0.009;0.009;0.017;0.004	B;B;B;B	0.19148	0.022;0.016;0.024;0.007	T	0.49643	-0.8918	10	0.62326	D	0.03	0.362	0.5756	0.00703	0.1975:0.3709:0.1937:0.238	.	214;214;214;214	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	Q	214	ENSP00000233057:E214Q;ENSP00000378559:E214Q;ENSP00000385014:E214Q	ENSP00000233057:E214Q	E	-	1	0	EIF2AK2	37218964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.109000	0.15417	-0.322000	0.08615	-0.484000	0.04775	GAG	EIF2AK2	-	NULL		0.338	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	C	NM_002759		37365460	-1	no_errors	ENST00000233057	ensembl	human	known	70_37	missense	SNP	0.000	G	G	37365460	C	G	37365460	3	3	117	1	0	0	0	0	1	0	0	0	5007	922	32	1	1055	1	EIF2AK2	2	37365460	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	559656	37365460	205833913	160	17628										
KCNG3	170850	genome.wustl.edu	37	chr2	42720542	42720542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgtgcagccggctcacgcGgcgcagcgggaagtccttca	15	15	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:42720542G>A	ENST00000306078.1	-	1	695	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Missense_Mutation_p.R34C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	34					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CGGCTCACGCGGCGCAGCGGG	0.706																																																	0													13	12	12					2																	42720542		2144	4211	6355	SO:0001583	missense	170850			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.100C>T	2.37:g.42720542G>A	ENSP00000304127:p.Arg34Cys		Q53SC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R34C	ENST00000306078.1	37	c.100	CCDS1809.1	2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733200	0.69189	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.139825	0.44097	D	0.000496	T	0.70833	0.3269	M	0.90595	3.13	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76291	-0.3013	10	0.87932	D	0	.	10.2455	0.43339	0.0:0.0:0.8019:0.1981	.	34;34	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	C	34	ENSP00000304127:R34C;ENSP00000378424:R34C	ENSP00000304127:R34C	R	-	1	0	KCNG3	42574046	0.969000	0.33509	0.996000	0.52242	0.997000	0.91878	1.126000	0.31344	1.666000	0.50821	0.462000	0.41574	CGC	KCNG3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.706	KCNG3-001	KNOWN	basic|CCDS	protein_coding	KCNG3	HGNC	protein_coding	OTTHUMT00000250464.2	G	NM_172344		42720542	-1	no_errors	ENST00000306078	ensembl	human	known	70_37	missense	SNP	0.999	A	A	42720542	G	A	42720542	3	1	117	1	0	0	0	0	1	0	0	0	8049	1116	39	2	1218	2	KCNG3	2	42720542	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5355082	42720542	200478831	161	17629										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452529	43452529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgccccccttctgctgctgCtgcaggtgcaggaggtgctg	14	15	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:43452529C>T	ENST00000282388.3	-	2	707	c.414G>A	c.(412-414)caG>caA	p.Q138Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	138	Poly-Gln.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TCTGCTGCTGCTGCAGGTGCA	0.667																																																	0													24	27	26					2																	43452529		2203	4300	6503	SO:0001819	synonymous_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.414G>A	2.37:g.43452529C>T			Q53TB4|Q9BSJ3	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.Q138	ENST00000282388.3	37	c.414	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Tis11B_N		0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452529	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43452529	C	T	43452529	2	4	117	1	0	0	0	0	0	0	0	1	17677	796	28	4		4	ZFP36L2	2	43452529	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	731987	43452529	199746844	162	17630										
NRXN1	9378	genome.wustl.edu	37	chr2	51255238	51255238	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgcgggcgctgcgagtcttGagctggaagctcatctcgct	14	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:51255238G>C	ENST00000406316.2	-	2	1650	c.174C>G	c.(172-174)ctC>ctG	p.L58L	NRXN1_ENST00000405581.1_Silent_p.L58L|NRXN1_ENST00000401669.2_Silent_p.L58L|NRXN1_ENST00000402717.3_Silent_p.L58L|NRXN1_ENST00000405472.3_Silent_p.L58L|NRXN1_ENST00000404971.1_Silent_p.L58L|NRXN1_ENST00000406859.3_Silent_p.L58L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	58	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGAGTCTTGAGCTGGAAGC	0.677																																																	0													9	13	12					2																	51255238		1985	4136	6121	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.174C>G	2.37:g.51255238G>C			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L58	ENST00000406316.2	37	c.174	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	G			51255238	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	C	C	51255238	G	C	51255238	2	2	117	1	0	0	0	0	0	0	0	1	10689	1277	45	1		1	NRXN1	2	51255238	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7802709	51255238	191944135	163	17631										
SPTBN1	6711	genome.wustl.edu	37	chr2	54874325	54874325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agatcttagaacaagctgtgGaggactatgcagagaccgtg	13	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:54874325G>A	ENST00000356805.4	+	24	5205	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAAGCTGTGGAGGACTATGC	0.552																																																	0													113	103	107					2																	54874325		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4924G>A	2.37:g.54874325G>A	ENSP00000349259:p.Glu1642Lys		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1642K	ENST00000356805.4	37	c.4924	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900171	0.92035	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50813	0.73;0.73	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.68593	2.085	0.58432	D	0.999999	B;P	0.49635	0.25;0.926	B;P	0.49252	0.181;0.604	T	0.62220	-0.6900	10	0.72032	D	0.01	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1642;1629	ENSP00000349259:E1642K;ENSP00000334156:E1629K	ENSP00000334156:E1629K	E	+	1	0	SPTBN1	54727829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.818000	0.97014	0.591000	0.81541	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54874325	1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54874325	G	A	54874325	3	1	117	1	0	0	0	0	1	0	0	0	15149	1175	41	1	5127	1	SPTBN1	2	54874325	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3619087	54874325	188325048	164	17632										
FANCL	55120	genome.wustl.edu	37	chr2	58390039	58390039	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acgagctggaaaatcaatttCtaaaacatctttcaaatttt	4	7	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:58390039C>G	ENST00000233741.4	-	11	901	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	FANCL_ENST00000403676.1_Missense_Mutation_p.E172Q|FANCL_ENST00000403295.3_Missense_Mutation_p.E261Q|FANCL_ENST00000402135.3_Missense_Mutation_p.E294Q	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	289	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AAATCAATTTCTAAAACATCT	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													53	57	56					2																	58390039		2202	4298	6500	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.865G>C	2.37:g.58390039C>G	ENSP00000233741:p.Glu289Gln		Q6GU60	Missense_Mutation	SNP	pfam_FancL_WD-rpt_cont_dom	p.E289Q	ENST00000233741.4	37	c.865	CCDS1860.1	2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528733	0.64860	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000446381	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.57	5.57	0.84162	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);	0.138996	0.64402	D	0.000004	T	0.55641	0.1933	M	0.79475	2.455	0.80722	D	1	B;B;B;B	0.24368	0.034;0.102;0.002;0.001	B;B;B;B	0.31191	0.016;0.125;0.006;0.008	T	0.55811	-0.8082	10	0.51188	T	0.08	-13.7007	17.7355	0.88391	0.0:1.0:0.0:0.0	.	230;261;294;289	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	Q	261;289;294;172;230;141	ENSP00000386097:E261Q;ENSP00000233741:E289Q;ENSP00000385021:E294Q;ENSP00000384046:E172Q;ENSP00000401280:E230Q;ENSP00000390991:E141Q	ENSP00000233741:E289Q	E	-	1	0	FANCL	58243543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.877000	0.75562	2.640000	0.89533	0.655000	0.94253	GAA	FANCL	-	pfam_FancL_WD-rpt_cont_dom		0.313	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FANCL	HGNC	protein_coding	OTTHUMT00000251497.1	C	NM_018062		58390039	-1	no_errors	ENST00000233741	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58390039	C	G	58390039	3	3	117	1	0	0	0	0	1	0	0	0	5688	922	32	1	278	1	FANCL	2	58390039	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3515714	58390039	184809334	165	17633										
PAPOLG	64895	genome.wustl.edu	37	chr2	61018984	61018984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaaaacaacttcaccactaCcttcctgcagaaattcttca	2	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:61018984C>T	ENST00000238714.3	+	16	1734	c.1485C>T	c.(1483-1485)taC>taT	p.Y495Y		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	495					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTCACCACTACCTTCCTGCAG	0.343																																					GBM(183;1497 2932 21839 46797)												0													86	85	85					2																	61018984		2203	4300	6503	SO:0001819	synonymous_variant	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1485C>T	2.37:g.61018984C>T			B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Silent	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.Y495	ENST00000238714.3	37	c.1485	CCDS1863.1	2																																																																																			PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase		0.343	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3	C	NM_022894		61018984	1	no_errors	ENST00000238714	ensembl	human	known	70_37	silent	SNP	1.000	T	T	61018984	C	T	61018984	2	4	117	1	0	0	0	0	0	0	0	1	11455	518	18	4		4	PAPOLG	2	61018984	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2628945	61018984	182180389	166	17634										
ALMS1	7840	genome.wustl.edu	37	chr2	73716937	73716937	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaatgaccagaggacggcaGaacccatcatcatgcagagc	11	11	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:73716937G>A	ENST00000264448.6	+	10	7959	c.7848G>A	c.(7846-7848)caG>caA	p.Q2616Q	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.Q2574Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2616					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGGACGGCAGAACCCATCAT	0.458																																																	0													74	73	74					2																	73716937		1957	4146	6103	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7848G>A	2.37:g.73716937G>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.Q2616	ENST00000264448.6	37	c.7848	CCDS42697.1	2																																																																																			ALMS1	-	NULL		0.458	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73716937	1	no_errors	ENST00000264448	ensembl	human	known	70_37	silent	SNP	0.756	A	A	73716937	G	A	73716937	2	1	117	1	0	0	0	0	0	0	0	1	535	933	33	1		1	ALMS1	2	73716937	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	12697953	73716937	169482436	167	17635										
ALMS1	7840	genome.wustl.edu	37	chr2	73828516	73828516	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctggcaggcccaggcagaGaggctggcagagacctactg	15	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:73828516G>C	ENST00000264448.6	+	19	12175	c.12064G>C	c.(12064-12066)Gag>Cag	p.E4022Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3980Q|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4022					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAGGCAGAGAGGCTGGCAG	0.577																																																	0													34	40	38					2																	73828516		2199	4300	6499	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12064G>C	2.37:g.73828516G>C	ENSP00000264448:p.Glu4022Gln		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E4022Q	ENST00000264448.6	37	c.12064	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045474	0.19748	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06687	3.27;3.27	3.59	1.7	0.24286	.	1.502820	0.03907	N	0.281215	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B;B	0.32620	0.274;0.378	B;B	0.29353	0.093;0.101	T	0.34601	-0.9822	10	0.45353	T	0.12	.	6.095	0.20015	0.2527:0.0:0.7473:0.0	.	3980;4022	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Q	3980;4022	ENSP00000386627:E3980Q;ENSP00000264448:E4022Q	ENSP00000264448:E4022Q	E	+	1	0	ALMS1	73682024	0.017000	0.18338	0.002000	0.10522	0.009000	0.06853	1.503000	0.35715	0.699000	0.31761	0.491000	0.48974	GAG	ALMS1	-	NULL		0.577	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73828516	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.001	C	C	73828516	G	C	73828516	3	2	117	1	0	0	0	0	1	0	0	0	535	943	33	1	12138	1	ALMS1	2	73828516	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	111579	73828516	169370857	168	17636										
NAT8	9027	genome.wustl.edu	37	chr2	73868743	73868743	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcctggtatttgcggatgtGacaaggagccatggacagac	13	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:73868743G>C	ENST00000272425.3	-	2	162	c.13C>G	c.(13-15)Cac>Gac	p.H5D		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TTGCGGATGTGACAAGGAGCC	0.582																																																	0													49	56	54					2																	73868743		2184	4289	6473	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.13C>G	2.37:g.73868743G>C	ENSP00000272425:p.His5Asp			Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.H5D	ENST00000272425.3	37	c.13	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570876	0.28003	.	.	ENSG00000144035	ENST00000272425	T	0.30182	1.54	3.86	1.96	0.26148	Acyl-CoA N-acyltransferase (1);	0.413197	0.26359	N	0.024828	T	0.38054	0.1026	M	0.67397	2.05	0.21878	N	0.999492	D	0.58268	0.982	P	0.54664	0.758	T	0.15607	-1.0431	10	0.45353	T	0.12	-12.2934	4.459	0.11657	0.216:0.1889:0.5951:0.0	.	5	Q9UHE5	NAT8_HUMAN	D	5	ENSP00000272425:H5D	ENSP00000272425:H5D	H	-	1	0	NAT8	73722251	0.975000	0.34042	0.821000	0.32701	0.031000	0.12232	2.498000	0.45363	0.355000	0.24131	-0.151000	0.13558	CAC	NAT8	-	NULL		0.582	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	G	NM_003960		73868743	-1	no_errors	ENST00000272425	ensembl	human	known	70_37	missense	SNP	0.538	C	C	73868743	G	C	73868743	3	2	117	1	0	0	0	0	1	0	0	0	10202	1290	45	1	674	1	NAT8	2	73868743	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	40227	73868743	169330630	169	17637										
MTHFD2	10797	genome.wustl.edu	37	chr2	74437150	74437150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattgcaatgttactgcacaCagatggggcgcatgaacgtc	11	10	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:74437150C>T	ENST00000394053.2	+	5	724	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MTHFD2_ENST00000264090.4_Missense_Mutation_p.T113I|MTHFD2_ENST00000409601.1_Missense_Mutation_p.T174I|MTHFD2_ENST00000394050.3_Missense_Mutation_p.T51I|MTHFD2_ENST00000409804.1_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	215					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TTACTGCACACAGATGGGGCG	0.448																																																	0													74	77	76					2																	74437150		1902	4125	6027	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.644C>T	2.37:g.74437150C>T	ENSP00000377617:p.Thr215Ile		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.T215I	ENST00000394053.2	37	c.644	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	C	33	5.279551	0.95489	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T	0.58060	0.38;0.38;0.38;0.36	5.49	5.49	0.81192	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.093742	0.64402	D	0.000001	T	0.64472	0.2601	L	0.59436	1.845	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.55749	0.783;0.783	T	0.61686	-0.7012	10	0.44086	T	0.13	.	16.9648	0.86282	0.0:1.0:0.0:0.0	.	174;215	B8ZZU9;P13995	.;MTDC_HUMAN	I	215;113;51;174	ENSP00000377617:T215I;ENSP00000264090:T113I;ENSP00000377614:T51I;ENSP00000386542:T174I	ENSP00000264090:T113I	T	+	2	0	MTHFD2	74290658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.207000	0.77899	2.873000	0.98535	0.644000	0.83932	ACA	MTHFD2	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom		0.448	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	C			74437150	1	no_errors	ENST00000394053	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74437150	C	T	74437150	3	4	117	1	0	0	0	0	1	0	0	0	9952	478	17	4	662	4	MTHFD2	2	74437150	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	568407	74437150	168762223	170	17638										
DNAH6	1768	genome.wustl.edu	37	chr2	84954818	84954818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caataccaccattgaaacttCtgtaaagacagaaaatctac	4	10	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:84954818C>G	ENST00000237449.6	+	60	10006	c.9998C>G	c.(9997-9999)tCt>tGt	p.S3333C	DNAH6_ENST00000389394.3_Missense_Mutation_p.S3333C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3333					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTGAAACTTCTGTAAAGACA	0.378																																																	0													115	96	102					2																	84954818		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9998C>G	2.37:g.84954818C>G	ENSP00000237449:p.Ser3333Cys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3333C	ENST00000237449.6	37	c.9998	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072720	0.55646	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.60672	0.17;0.17	5.86	5.86	0.93980	.	0.214562	0.40818	N	0.001009	T	0.79317	0.4425	M	0.90542	3.125	0.80722	D	1	D;D	0.65815	0.991;0.995	P;D	0.63703	0.827;0.917	T	0.82508	-0.0422	10	0.72032	D	0.01	.	16.0536	0.80779	0.0:1.0:0.0:0.0	.	3333;92	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	C	3333	ENSP00000374045:S3333C;ENSP00000237449:S3333C	ENSP00000237449:S3333C	S	+	2	0	DNAH6	84808329	0.978000	0.34361	0.168000	0.22838	0.135000	0.20990	4.820000	0.62671	2.937000	0.99478	0.650000	0.86243	TCT	DNAH6	-	NULL		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	C	NM_001370		84954818	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.847	G	G	84954818	C	G	84954818	3	3	117	1	0	0	0	0	1	0	0	0	4615	913	32	1	10236	1	DNAH6	2	84954818	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10517668	84954818	158244555	171	17639										
ZNF514	84874	genome.wustl.edu	37	chr2	95815401	95815401	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtgtgaaatctatagtgcaGaacaagagacgaactctggc	11	7	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:95815401G>A	ENST00000295208.2	-	5	1291	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Silent_p.L277L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						CTATAGTGCAGAACAAGAGAC	0.418																																																	0													75	82	80					2																	95815401		2203	4300	6503	SO:0001819	synonymous_variant	84874			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"Zinc fingers, C2H2-type", "-"	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.829C>T	2.37:g.95815401G>A			Q5JPJ3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L277	ENST00000295208.2	37	c.829	CCDS2011.1	2																																																																																			ZNF514	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	HGNC	protein_coding	OTTHUMT00000252769.1	G	NM_032788		95815401	-1	no_errors	ENST00000295208	ensembl	human	known	70_37	silent	SNP	0.001	A	A	95815401	G	A	95815401	2	1	117	1	0	0	0	0	0	0	0	1	17989	933	33	1		1	ZNF514	2	95815401	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	10860583	95815401	147383972	172	17640										
PROM2	150696	genome.wustl.edu	37	chr2	95943221	95943221	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgggaacaccgggaccgcctCcttgagctgctgcaggaggc	15	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:95943221C>T	ENST00000317620.9	+	7	1015	c.882C>T	c.(880-882)ctC>ctT	p.L294L	PROM2_ENST00000317668.4_Silent_p.L294L|PROM2_ENST00000403131.2_Silent_p.L294L|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Silent_p.L294L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	294					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGACCGCCTCCTTGAGCTGC	0.657																																																	0													28	34	32					2																	95943221		2203	4300	6503	SO:0001819	synonymous_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.882C>T	2.37:g.95943221C>T			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	pfam_Prominin	p.L294	ENST00000317620.9	37	c.882	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95943221	1	no_errors	ENST00000317620	ensembl	human	known	70_37	silent	SNP	0.013	T	T	95943221	C	T	95943221	2	4	117	1	0	0	0	0	0	0	0	1	12583	842	30	1		1	PROM2	2	95943221	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	127820	95943221	147256152	173	17641										
ANKRD36	375248	genome.wustl.edu	37	chr2	97875577	97875577	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctgttttgtatatagccaGagaaaaaaaggatggagaaa	10	3	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:97875577G>C	ENST00000461153.2	+	56	3579	c.3335G>C	c.(3334-3336)aGa>aCa	p.R1112T	ANKRD36_ENST00000420699.2_Missense_Mutation_p.R1112T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1112										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATATAGCCAGAGAAAAAAAG	0.323																																																	0													73	87	83					2																	97875577		692	1590	2282	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3335G>C	2.37:g.97875577G>C	ENSP00000419530:p.Arg1112Thr		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1112T	ENST00000461153.2	37	c.3335	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.390337	0.01185	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.74737	-0.87;-0.87	0.167	0.167	0.15006	.	.	.	.	.	T	0.45597	0.1350	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31586	-0.9938	8	0.02654	T	1	.	.	.	.	.	1112	A6QL64	AN36A_HUMAN	T	1112	ENSP00000419530:R1112T;ENSP00000391950:R1112T	ENSP00000391950:R1112T	R	+	2	0	ANKRD36	97239304	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.731000	0.01853	-0.783000	0.04534	-0.775000	0.03384	AGA	ANKRD36	-	NULL		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	G			97875577	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.002	C	C	97875577	G	C	97875577	3	2	117	1	0	0	0	0	1	0	0	0	665	942	33	1	3557	1	ANKRD36	2	97875577	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1932356	97875577	145323796	174	17642										
INPP4A	3631	genome.wustl.edu	37	chr2	99182575	99182575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagagtggcatgctgctgcGagtgcagcccgtcctcttca	12	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:99182575G>A	ENST00000523221.1	+	20	2378	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	INPP4A_ENST00000409016.4_Missense_Mutation_p.R754Q|INPP4A_ENST00000074304.5_Missense_Mutation_p.R793Q|INPP4A_ENST00000545415.1_Missense_Mutation_p.R754Q|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409463.1_Missense_Mutation_p.R122Q|INPP4A_ENST00000409851.3_Missense_Mutation_p.R788Q|INPP4A_ENST00000409540.3_Missense_Mutation_p.R754Q			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	793					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ATGCTGCTGCGAGTGCAGCCC	0.667																																																	0													16	18	17					2																	99182575		2017	4170	6187	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2378G>A	2.37:g.99182575G>A	ENSP00000427722:p.Arg793Gln		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R793Q	ENST00000523221.1	37	c.2378	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.717105	0.96839	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.43294	1.89;2.21;0.95;2.21;1.89;1.87;2.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	L	0.52206	1.635	0.80722	D	1	D;D;P;D;D	0.89917	0.999;0.999;0.881;1.0;1.0	D;D;P;D;D	0.85130	0.962;0.993;0.576;0.997;0.994	T	0.58651	-0.7599	10	0.51188	T	0.08	-25.2744	17.9496	0.89048	0.0:0.0:1.0:0.0	.	754;754;122;793;788	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	Q	754;788;122;793;754;754;793	ENSP00000386704:R754Q;ENSP00000386777:R788Q;ENSP00000386329:R122Q;ENSP00000074304:R793Q;ENSP00000442149:R754Q;ENSP00000387294:R754Q;ENSP00000427722:R793Q	ENSP00000074304:R793Q	R	+	2	0	INPP4A	98549007	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.657000	0.98554	2.732000	0.93576	0.650000	0.86243	CGA	INPP4A	-	NULL		0.667	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	G	NM_001566		99182575	1	no_errors	ENST00000074304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99182575	G	A	99182575	3	1	117	1	0	0	0	0	1	0	0	0	7772	1058	37	1	2456	1	INPP4A	2	99182575	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1306998	99182575	144016798	175	17643										
RGPD4	285190	genome.wustl.edu	37	chr2	108489090	108489090	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaagtttgtatttggttcaGagtctgttaaaagaattttt	8	3	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:108489090G>A	ENST00000408999.3	+	20	4707	c.4630G>A	c.(4630-4632)Gag>Aag	p.E1544K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1544K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1544					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTTGGTTCAGAGTCTGTTAA	0.368																																																	0													32	27	29					2																	108489090		691	1578	2269	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4630G>A	2.37:g.108489090G>A	ENSP00000386810:p.Glu1544Lys		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1544K	ENST00000408999.3	37	c.4630	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	11.62	1.693197	0.30052	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.42900	0.96;0.97	2.33	2.33	0.28932	.	.	.	.	.	T	0.44993	0.1320	M	0.64997	1.995	0.28124	N	0.930487	D	0.53745	0.962	P	0.46885	0.53	T	0.37454	-0.9705	9	0.40728	T	0.16	-28.6723	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1544	Q7Z3J3	RGPD4_HUMAN	K	1544	ENSP00000347081:E1544K;ENSP00000386810:E1544K	ENSP00000347081:E1544K	E	+	1	0	RGPD4	107855522	1.000000	0.71417	0.990000	0.47175	0.197000	0.23852	7.269000	0.78482	1.303000	0.44873	0.162000	0.16502	GAG	RGPD4	-	NULL		0.368	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108489090	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.994	A	A	108489090	G	A	108489090	3	1	117	1	0	0	0	0	1	0	0	0	13318	943	33	1	4708	1	RGPD4	2	108489090	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9306515	108489090	134710283	176	17644										
RANBP2	5903	genome.wustl.edu	37	chr2	109381095	109381095	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgctcattaaagaatgcttCaactgctaagaaatgtgtat	7	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:109381095C>T	ENST00000283195.6	+	20	4226	c.4100C>T	c.(4099-4101)tCa>tTa	p.S1367L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1367					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1367L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTTCAACTGCTAAG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											89	89	89					2																	109381095		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4100C>T	2.37:g.109381095C>T	ENSP00000283195:p.Ser1367Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S1367L	ENST00000283195.6	37	c.4100	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606460	0.46527	.	.	ENSG00000153201	ENST00000283195	T	0.56444	0.46	5.48	5.48	0.80851	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.38480	0.1042	N	0.14661	0.345	0.23331	N	0.997897	B	0.15141	0.012	B	0.18561	0.022	T	0.24368	-1.0162	9	0.44086	T	0.13	-17.6754	13.6215	0.62140	0.0:0.926:0.0:0.074	.	1367	P49792	RBP2_HUMAN	L	1367	ENSP00000283195:S1367L	ENSP00000283195:S1367L	S	+	2	0	RANBP2	108747527	0.036000	0.19791	0.999000	0.59377	0.969000	0.65631	1.913000	0.39956	2.554000	0.86153	0.655000	0.94253	TCA	RANBP2	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	C	NM_006267		109381095	1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	0.994	T	T	109381095	C	T	109381095	3	4	117	1	0	0	0	0	1	0	0	0	13058	838	29	1	4178	1	RANBP2	2	109381095	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	892005	109381095	133818278	177	17645										
ANAPC1	64682	genome.wustl.edu	37	chr2	112638298	112638298	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctggcgaagttgaaggttCaaagcattagggtggtgctt	15	5	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:112638298C>T	ENST00000341068.3	-	2	877	c.105G>A	c.(103-105)ttG>ttA	p.L35L	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGAAGGTTCAAAGCATTAG	0.488																																																	0													64	62	63					2																	112638298		2203	4299	6502	SO:0001819	synonymous_variant	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.105G>A	2.37:g.112638298C>T			Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	NULL	p.L35	ENST00000341068.3	37	c.105	CCDS2093.1	2																																																																																			ANAPC1	-	NULL		0.488	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	C	NM_022662		112638298	-1	no_errors	ENST00000341068	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112638298	C	T	112638298	2	4	117	1	0	0	0	0	0	0	0	1	598	825	29	1		1	ANAPC1	2	112638298	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3257203	112638298	130561075	178	17646										
RGPD5	727851	genome.wustl.edu	37	chr2	113146919	113146919	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaaatgttttgaaatctttCagtccactcttcatttcttc	3	9	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:113146919C>G	ENST00000302558.3	-	20	3794	c.3603G>C	c.(3601-3603)ctG>ctC	p.L1201L	RGPD8_ENST00000409750.1_Silent_p.L1061L	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1201					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGAAATCTTTCAGTCCACTCT	0.413																																																	0													1	1	1					2																	113146919		1	3	4	SO:0001819	synonymous_variant	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3603G>C	2.37:g.113146919C>G			Q5CZA8	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1201	ENST00000302558.3	37	c.3603	CCDS46394.1	2																																																																																			RGPD8	-	NULL		0.413	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113146919	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	silent	SNP	0.997	G	G	113146919	C	G	113146919	2	3	117	1	0	0	0	0	0	0	0	1	13319	813	29	1		1	RGPD5	2	113146919	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	508621	113146919	130052454	179	17647										
RGPD5	727851	genome.wustl.edu	37	chr2	113147110	113147110	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctagtttggcatcaccatCagagaaatcactggctgacc	8	12	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:113147110C>T	ENST00000302558.3	-	20	3603	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	RGPD8_ENST00000409750.1_Missense_Mutation_p.D998N	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1138	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCATCACCATCAGAGAAATCA	0.448																																																	0													18	15	16					2																	113147110		691	1578	2269	SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3412G>A	2.37:g.113147110C>T	ENSP00000306637:p.Asp1138Asn		Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.D1138N	ENST00000302558.3	37	c.3412	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	-	12.84	2.057142	0.36277	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.54279	0.58;0.58	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.67664	0.2917	M	0.74389	2.26	0.80722	D	1	P	0.52170	0.951	D	0.67548	0.952	T	0.69793	-0.5049	9	0.59425	D	0.04	-27.2675	10.3508	0.43934	0.0:1.0:0.0:0.0	.	1138	O14715	RGPD8_HUMAN	N	1138;998	ENSP00000306637:D1138N;ENSP00000386511:D998N	ENSP00000306637:D1138N	D	-	1	0	RGPD8	112863581	1.000000	0.71417	0.999000	0.59377	0.408000	0.30992	7.554000	0.82212	1.299000	0.44798	0.152000	0.16155	GAT	RGPD8	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.448	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113147110	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113147110	C	T	113147110	3	4	117	1	0	0	0	0	1	0	0	0	13319	826	29	1	12915	1	RGPD5	2	113147110	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	191	113147110	130052263	180	17648										
PCDP1	200373	genome.wustl.edu	37	chr2	120362840	120362840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagtcagacaggacattcacGaagagatggaaaatcatctt	9	7	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:120362840G>T	ENST00000413369.3	+	11	1195	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Nonsense_Mutation_p.E84*	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GGACATTCACGAAGAGATGGA	0.378																																																	0													58	60	60					2																	120362840		2203	4300	6503	SO:0001587	stop_gained	200373																														ENST00000413369.3:c.1108G>T	2.37:g.120362840G>T	ENSP00000393222:p.Glu370*			Nonsense_Mutation	SNP	NULL	p.E84*	ENST00000413369.3	37	c.250	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018817	0.54576	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	.	.	.	5.22	3.43	0.39272	.	0.405345	0.23127	N	0.051621	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-7.7384	10.3569	0.43969	0.1596:0.0:0.8404:0.0	.	.	.	.	X	84;370	.	ENSP00000295220:E84X	E	+	1	0	AC069154.2	120079310	0.997000	0.39634	0.014000	0.15608	0.088000	0.18126	2.612000	0.46343	0.782000	0.33613	0.655000	0.94253	GAA	PCDP1	-	NULL		0.378	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_genename	protein_coding	OTTHUMT00000464236.1	G			120362840	1	no_errors	ENST00000602047	ensembl	human	known	70_37	nonsense	SNP	0.683	T	T	120362840	G	T	120362840	4	4	117	1	0	0	0	0	0	1	0	0	11596	1059	37	3	260	3	PCDP1	2	120362840	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7215730	120362840	122836533	181	17649										
FAM168B	130074	genome.wustl.edu	37	chr2	131813260	131813260	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactttgtaaggtgtgccagGagtgtaacctggaacaaaga	12	7	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:131813260G>C	ENST00000409185.1	-	4	270	c.163C>G	c.(163-165)Cct>Gct	p.P55A	FAM168B_ENST00000389915.3_Missense_Mutation_p.P55A	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	55						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						GGTGTGCCAGGAGTGTAACCT	0.617																																																	0													37	42	41					2																	131813260		2069	4203	6272	SO:0001583	missense	130074				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.163C>G	2.37:g.131813260G>C	ENSP00000387051:p.Pro55Ala		Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	NULL	p.P55A	ENST00000409185.1	37	c.163	CCDS42755.1	2	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268560	0.10349	.	.	ENSG00000152102	ENST00000409185;ENST00000354183;ENST00000389915	.	.	.	5.21	4.33	0.51752	.	0.045729	0.85682	D	0.000000	T	0.30510	0.0767	N	0.05124	-0.11	0.80722	D	1	B	0.26147	0.143	B	0.24006	0.05	T	0.10042	-1.0647	9	0.33141	T	0.24	-2.8997	11.9416	0.52905	0.0854:0.0:0.9146:0.0	.	55	A1KXE4	F168B_HUMAN	A	55	.	ENSP00000346115:P55A	P	-	1	0	FAM168B	131529730	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.901000	0.69861	1.324000	0.45282	0.555000	0.69702	CCT	FAM168B	-	NULL		0.617	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM168B	HGNC	protein_coding	OTTHUMT00000331299.2	G	NM_001009993		131813260	-1	no_errors	ENST00000389915	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131813260	G	C	131813260	3	2	117	1	0	0	0	0	1	0	0	0	5501	1174	41	1	436	1	FAM168B	2	131813260	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11450420	131813260	111386113	182	17650										
LRP1B	53353	genome.wustl.edu	37	chr2	141083363	141083363	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgacagagactactgaattaGagccatcatacagaacactg	8	9	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:141083363G>C	ENST00000389484.3	-	80	13279	c.12308C>G	c.(12307-12309)tCt>tGt	p.S4103C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4103					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTGAATTAGAGCCATCATA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													113	102	106					2																	141083363		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12308C>G	2.37:g.141083363G>C	ENSP00000374135:p.Ser4103Cys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4103C	ENST00000389484.3	37	c.12308	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.28|17.28	3.348510|3.348510	0.61183|0.61183	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.91686	.|-2.89	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.085006	.|0.49916	.|U	.|0.000127	D|D	0.95551|0.95551	0.8554|0.8554	M|M	0.86740|0.86740	2.835|2.835	0.47621|0.47621	D|D	0.999473|0.999473	.|D	.|0.63046	.|0.992	.|P	.|0.54401	.|0.751	D|D	0.96240|0.96240	0.9175|0.9175	5|10	.|0.72032	.|D	.|0.01	.|.	18.583|18.583	0.91178|0.91178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4103	.|Q9NZR2	.|LRP1B_HUMAN	V|C	335|4103;4041	.|ENSP00000374135:S4103C	.|ENSP00000374135:S4103C	L|S	-|-	1|2	2|0	LRP1B|LRP1B	140799833|140799833	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.153000|0.153000	0.21895|0.21895	9.423000|9.423000	0.97461|0.97461	2.382000|2.382000	0.81193|0.81193	0.591000|0.591000	0.81541|0.81541	CTA|TCT	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141083363	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141083363	G	C	141083363	3	2	117	1	0	0	0	0	1	0	0	0	8978	942	33	1	1539	1	LRP1B	2	141083363	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9270103	141083363	102116010	183	17651										
LRP1B	53353	genome.wustl.edu	37	chr2	141253266	141253266	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgaagagcattcatcaatgtCtacacatgttttgccgtcat	7	9	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:141253266C>G	ENST00000389484.3	-	56	9873	c.8902G>C	c.(8902-8904)Gac>Cac	p.D2968H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2968	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAATGTCTACACATGTT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													142	127	132					2																	141253266		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8902G>C	2.37:g.141253266C>G	ENSP00000374135:p.Asp2968His		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2968H	ENST00000389484.3	37	c.8902	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.080257	0.94050	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99868	-7.32	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96708	0.9523	10	0.66056	D	0.02	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	2968	Q9NZR2	LRP1B_HUMAN	H	2968;2906	ENSP00000374135:D2968H	ENSP00000374135:D2968H	D	-	1	0	LRP1B	140969736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.706000	0.84615	2.718000	0.92993	0.585000	0.79938	GAC	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141253266	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	G	G	141253266	C	G	141253266	3	3	117	1	0	0	0	0	1	0	0	0	8978	913	32	1	5041	1	LRP1B	2	141253266	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	169903	141253266	101946107	184	17652										
CACNB4	785	genome.wustl.edu	37	chr2	152698450	152698450	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attgctgtgggatatggtgaGagtgccgtggagcccaaatt	15	6	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:152698450G>T	ENST00000539935.1	-	13	1336	c.1269C>A	c.(1267-1269)ctC>ctA	p.L423L	CACNB4_ENST00000360283.6_Silent_p.L390L|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000397327.2_Silent_p.L376L|CACNB4_ENST00000534999.1_Silent_p.L389L|CACNB4_ENST00000427385.1_Silent_p.L405L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	423					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GATATGGTGAGAGTGCCGTGG	0.488																																																	0													129	133	132					2																	152698450		2030	4179	6209	SO:0001819	synonymous_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1269C>A	2.37:g.152698450G>T			A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.L424	ENST00000539935.1	37	c.1272	CCDS46426.1	2																																																																																			CACNB4	-	NULL		0.488	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152698450	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	silent	SNP	0.996	T	T	152698450	G	T	152698450	2	4	117	1	0	0	0	0	0	0	0	1	2560	929	33	3		3	CACNB4	2	152698450	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11445184	152698450	90500923	185	17653										
ERMN	57471	genome.wustl.edu	37	chr2	158178248	158178248	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgctcagtaatcctctccttCtgtcttcttatttcctggtt	5	12	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:158178248C>T	ENST00000410096.1	-	3	681	c.390G>A	c.(388-390)caG>caA	p.Q130Q	ERMN_ENST00000420719.2_Silent_p.Q110Q|ERMN_ENST00000397283.2_Silent_p.Q143Q|ERMN_ENST00000535935.1_Silent_p.Q24Q|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	130					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.Q143H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCCTCTCCTTCTGTCTTCTTA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											85	81	82					2																	158178248		1900	4124	6024	SO:0001819	synonymous_variant	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.390G>A	2.37:g.158178248C>T			B4DKA6|Q9ULN1	Silent	SNP	superfamily_Moesin	p.Q143	ENST00000410096.1	37	c.429	CCDS46431.1	2																																																																																			ERMN	-	NULL		0.448	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	HGNC	protein_coding	OTTHUMT00000332659.1	C	NM_001009959		158178248	-1	no_errors	ENST00000397283	ensembl	human	known	70_37	silent	SNP	0.000	T	T	158178248	C	T	158178248	2	4	117	1	0	0	0	0	0	0	0	1	5247	912	32	1		1	ERMN	2	158178248	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5479798	158178248	85021125	186	17654										
XIRP2	129446	genome.wustl.edu	37	chr2	168101840	168101840	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggtgatgtaaaaagctacaGaatgctctttgaaacccagc	10	8	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:168101840G>C	ENST00000409195.1	+	9	4027	c.3938G>C	c.(3937-3939)aGa>aCa	p.R1313T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1313T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1091T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1138					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGCTACAGAATGCTCTTT	0.368																																																	0													70	66	67					2																	168101840		1860	4100	5960	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3938G>C	2.37:g.168101840G>C	ENSP00000386840:p.Arg1313Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.R1313T	ENST00000409195.1	37	c.3938	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	3.779	-0.045940	0.07452	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.34275	1.37;1.37;1.37	5.78	2.92	0.33932	.	0.287844	0.36338	N	0.002651	T	0.16428	0.0395	N	0.05383	-0.06	0.26858	N	0.96802	B;B;B	0.24426	0.103;0.006;0.018	B;B;B	0.25614	0.062;0.007;0.007	T	0.17077	-1.0381	10	0.23891	T	0.37	-10.9327	6.6228	0.22812	0.1525:0.2794:0.5681:0.0	.	1138;1138;1091	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1313;1313;1091	ENSP00000386840:R1313T;ENSP00000295237:R1313T;ENSP00000387255:R1091T	ENSP00000295237:R1313T	R	+	2	0	XIRP2	167810086	0.998000	0.40836	0.999000	0.59377	0.983000	0.72400	1.989000	0.40707	0.745000	0.32763	0.563000	0.77884	AGA	XIRP2	-	pfam_Actin-binding_Xin_repeat		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168101840	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	1.000	C	C	168101840	G	C	168101840	3	2	117	1	0	0	0	0	1	0	0	0	17461	942	33	1	3968	1	XIRP2	2	168101840	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9923592	168101840	75097533	187	17655										
KBTBD10	10324	genome.wustl.edu	37	chr2	170371123	170371123	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatgggttggacttccacctCtgccttcagccaggtgtctc	10	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:170371123C>T	ENST00000284669.1	+	2	1227	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	RP11-724O16.1_ENST00000513963.1_Silent_p.L322L|BBS5_ENST00000554017.1_Silent_p.L322L|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	384					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											ACTTCCACCTCTGCCTTCAGC	0.438																																																	0													99	97	97					2																	170371123		2203	4300	6503	SO:0001819	synonymous_variant	10324			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1150C>T	2.37:g.170371123C>T			Q53R42	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L384	ENST00000284669.1	37	c.1150	CCDS2234.1	2																																																																																			KBTBD10	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.438	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	C	NM_006063		170371123	1	no_errors	ENST00000284669	ensembl	human	known	70_37	silent	SNP	1.000	T	T	170371123	C	T	170371123	2	4	117	1	0	0	0	0	0	0	0	1	8010	912	32	1		1	KBTBD10	2	170371123	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2269283	170371123	72828250	188	17656										
KLHL23	151230	genome.wustl.edu	37	chr2	170592188	170592188	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaattgaatgcctctataatCtactgagctatatcaacatt	5	8	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:170592188C>T	ENST00000392647.2	+	2	908	c.664C>T	c.(664-666)Cta>Tta	p.L222L	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Silent_p.L222L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	222	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCTCTATAATCTACTGAGCTA	0.393																																																	0													48	51	50					2																	170592188		2203	4300	6503	SO:0001819	synonymous_variant	151230			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.664C>T	2.37:g.170592188C>T			Q8N9B9|Q96FT8	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L222	ENST00000392647.2	37	c.664	CCDS2236.1	2																																																																																			KLHL23	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.393	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	C	NM_144711		170592188	1	no_errors	ENST00000272797	ensembl	human	known	70_37	silent	SNP	1.000	T	T	170592188	C	T	170592188	2	4	117	1	0	0	0	0	0	0	0	1	8398	912	32	1		1	KLHL23	2	170592188	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	221065	170592188	72607185	189	17657										
UBR3	130507	genome.wustl.edu	37	chr2	170783844	170783844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttaggaatgtctgatgatGagattctcagggccgagatg	13	5	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:170783844G>C	ENST00000272793.5	+	17	2403	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	UBR3_ENST00000418381.1_Missense_Mutation_p.E785Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	785					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTCTGATGATGAGATTCTCAG	0.333																																																	0													105	97	100					2																	170783844		692	1591	2283	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.2353G>C	2.37:g.170783844G>C	ENSP00000272793:p.Glu785Gln		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E785Q	ENST00000272793.5	37	c.2353		2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987546	0.74589	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.50813	0.73;0.73	5.7	5.7	0.88788	.	.	.	.	.	T	0.44767	0.1309	L	0.35854	1.095	0.80722	D	1	P	0.48089	0.905	P	0.45232	0.474	T	0.33317	-0.9873	9	0.42905	T	0.14	.	16.1244	0.81382	0.0:0.0:0.8659:0.1341	.	785	Q6ZT12	UBR3_HUMAN	Q	785	ENSP00000272793:E785Q;ENSP00000396068:E785Q	ENSP00000272793:E785Q	E	+	1	0	UBR3	170492090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.703000	0.92315	0.650000	0.86243	GAG	UBR3	-	NULL		0.333	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	G	NM_172070		170783844	1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170783844	G	C	170783844	3	2	117	1	0	0	0	0	1	0	0	0	16934	1291	45	1	2419	1	UBR3	2	170783844	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	191656	170783844	72415529	190	17658										
EVX2	344191	genome.wustl.edu	37	chr2	176947126	176947126	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catgcaggcttccgaggcctGagcccgacgccgacgtcgtg	14	15	0	1	rs540666894	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:176947126G>C	ENST00000308618.4	-	2	615	c.479C>G	c.(478-480)tCa>tGa	p.S160*		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	160					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCCGAGGCCTGAGCCCGACGC	0.697																																																	0													17	19	19					2																	176947126		2072	4109	6181	SO:0001587	stop_gained	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.479C>G	2.37:g.176947126G>C	ENSP00000312385:p.Ser160*			Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.S160*	ENST00000308618.4	37	c.479	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085532	0.76642	.	.	ENSG00000174279	ENST00000308618	.	.	.	4.72	4.72	0.59763	.	0.428743	0.24776	N	0.035699	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.8909	17.8636	0.88789	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000312385:S160X	S	-	2	0	EVX2	176655372	1.000000	0.71417	0.626000	0.29213	0.048000	0.14542	6.191000	0.72063	2.465000	0.83290	0.655000	0.94253	TCA	EVX2	-	NULL		0.697	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	G			176947126	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	nonsense	SNP	0.243	C	C	176947126	G	C	176947126	4	2	117	1	0	0	0	0	0	1	0	0	5307	1294	45	1	957	1	EVX2	2	176947126	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6163282	176947126	66252247	191	17659										
RBM45	129831	genome.wustl.edu	37	chr2	178985070	178985070	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catctgaatcctctgaacaaGattattatagtaatatgagg	7	6	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:178985070G>C	ENST00000286070.5	+	4	699	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	203					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CTCTGAACAAGATTATTATAG	0.323																																																	0													68	71	70					2																	178985070		2202	4300	6502	SO:0001583	missense	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.607G>C	2.37:g.178985070G>C	ENSP00000286070:p.Asp203His		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D203H	ENST00000286070.5	37	c.607	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375291	0.82682	.	.	ENSG00000155636	ENST00000286070	T	0.05717	3.4	6.16	6.16	0.99307	.	0.089817	0.85682	D	0.000000	T	0.19127	0.0459	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.00004	-1.2548	10	0.62326	D	0.03	-17.9187	19.848	0.96722	0.0:0.0:1.0:0.0	.	203	Q8IUH3-3	.	H	203	ENSP00000286070:D203H	ENSP00000286070:D203H	D	+	1	0	RBM45	178693316	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.108000	0.64609	2.937000	0.99478	0.650000	0.86243	GAT	RBM45	-	NULL		0.323	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	G	NM_152945		178985070	1	no_errors	ENST00000286070	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178985070	G	C	178985070	3	2	117	1	0	0	0	0	1	0	0	0	13169	942	33	1	621	1	RBM45	2	178985070	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2037944	178985070	64214303	192	17660										
TTN	7273	genome.wustl.edu	37	chr2	179416576	179416576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtaacttctgaaccaccatCataaactggagcatcccaag	6	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179416576C>G	ENST00000591111.1	-	285	86352	c.86128G>C	c.(86128-86130)Gat>Cat	p.D28710H	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21478H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27783H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21411H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21286H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D30351H			Q8WZ42	TITIN_HUMAN	titin	28710	Fibronectin type-III 109. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACCACCATCATAAACTGGA	0.413																																																	0													160	162	161					2																	179416576		1924	4127	6051	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86128G>C	2.37:g.179416576C>G	ENSP00000465570:p.Asp28710His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D27783H	ENST00000591111.1	37	c.83347		2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795402	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.76	4.89	0.63831	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77738	0.4175	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.59357	0.985;0.985;0.985;0.985	P;P;P;P	0.61940	0.836;0.836;0.836;0.896	T	0.82876	-0.0240	9	0.87932	D	0	.	14.7361	0.69416	0.0:0.9307:0.0:0.0693	.	21286;21411;21478;28710	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27783;21286;21478;21411;21283	ENSP00000343764:D27783H;ENSP00000434586:D21286H;ENSP00000340554:D21478H;ENSP00000352154:D21411H	ENSP00000340554:D21478H	D	-	1	0	TTN	179124822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.043000	0.71004	1.443000	0.47586	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179416576	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179416576	C	G	179416576	3	3	117	1	0	0	0	0	1	0	0	0	16766	826	29	1	17040	1	TTN	2	179416576	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	431506	179416576	63782797	193	17661										
TTN	7273	genome.wustl.edu	37	chr2	179424573	179424573	+	Silent	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagccttgacaatcaaggtCttcctcatttcactgtcaat							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179424573C>T	ENST00000591111.1	-	276	81587	c.81363G>A	c.(81361-81363)aaG>aaA	p.K27121K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.K19889K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.K26194K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.K19822K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.K19697K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.K28762K			Q8WZ42	TITIN_HUMAN	titin	27121	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATCAAGGTCTTCCTCATTT	0.463																																																	0													154	150	151					2																	179424573		1997	4174	6171	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81363G>A	2.37:g.179424573C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K26194	ENST00000591111.1	37	c.78582		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179424573	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179424573	C	T	179424573	2	4	117	1	0	0	0	0	0	0	0	1	16766	912	32	1		1	TTN	2	179424573	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7997	179424573	63774800	194	17662	96	2								
TTN	7273	genome.wustl.edu	37	chr2	179424576	179424576	+	Silent	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccttgacaatcaaggtcttCctcatttcactgtcaatatc							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179424576C>T	ENST00000591111.1	-	276	81584	c.81360G>A	c.(81358-81360)agG>agA	p.R27120R	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.R19888R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.R26193R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.R19821R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.R19696R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.R28761R			Q8WZ42	TITIN_HUMAN	titin	27120	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGGTCTTCCTCATTTCAC	0.458																																																	0													149	146	147					2																	179424576		1991	4172	6163	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81360G>A	2.37:g.179424576C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R26193	ENST00000591111.1	37	c.78579		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179424576	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179424576	C	T	179424576	2	4	117	1	0	0	0	0	0	0	0	1	16766	854	30	1		1	TTN	2	179424576	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3	179424576	63774797	195	17663	96	2								
TTN	7273	genome.wustl.edu	37	chr2	179425118	179425118	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattatatatccagatatttCactacctccatcactctcgg	3	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179425118C>G	ENST00000591111.1	-	276	81042	c.80818G>C	c.(80818-80820)Gaa>Caa	p.E26940Q	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19708Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26013Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19641Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19516Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28581Q			Q8WZ42	TITIN_HUMAN	titin	26940	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGATATTTCACTACCTCCA	0.393																																																	0													85	77	80					2																	179425118		1847	4099	5946	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80818G>C	2.37:g.179425118C>G	ENSP00000465570:p.Glu26940Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E26013Q	ENST00000591111.1	37	c.78037		2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988095	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.88	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63733	0.2536	M	0.65677	2.01	0.34116	D	0.663528	B;B;B;B	0.25048	0.055;0.055;0.055;0.117	B;B;B;B	0.34991	0.147;0.147;0.147;0.193	T	0.72984	-0.4125	9	0.87932	D	0	.	17.2642	0.87081	0.0:0.8746:0.1254:0.0	.	19516;19641;19708;26940	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	26013;19516;19708;19641;19513	ENSP00000343764:E26013Q;ENSP00000434586:E19516Q;ENSP00000340554:E19708Q;ENSP00000352154:E19641Q	ENSP00000340554:E19708Q	E	-	1	0	TTN	179133364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	1.463000	0.47967	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179425118	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179425118	C	G	179425118	3	3	117	1	0	0	0	0	1	0	0	0	16766	835	29	1	22386	1	TTN	2	179425118	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	542	179425118	63774255	196	17664										
TTN	7273	genome.wustl.edu	37	chr2	179581862	179581862	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaacaagagtcttttccagcGatgttgcttgcatagcaggt	11	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179581862G>T	ENST00000591111.1	-	86	24872	c.24648C>A	c.(24646-24648)atC>atA	p.I8216I	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.I7289I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.I8533I			Q8WZ42	TITIN_HUMAN	titin	12400	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCCAGCGATGTTGCTTG	0.433																																																	0													62	61	61					2																	179581862		1930	4133	6063	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24648C>A	2.37:g.179581862G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I7289	ENST00000591111.1	37	c.21867		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179581862	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.020	T	T	179581862	G	T	179581862	2	4	117	1	0	0	0	0	0	0	0	1	16766	1048	37	3		3	TTN	2	179581862	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	156744	179581862	63617511	197	17665										
TTN	7273	genome.wustl.edu	37	chr2	179597987	179597987	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taatacagtgaatgtagtctCacaggagctgctgcccactt	9	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179597987C>T	ENST00000591111.1	-	52	15306	c.15082G>A	c.(15082-15084)Gag>Aag	p.E5028K	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4101K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E5345K			Q8WZ42	TITIN_HUMAN	titin	12401	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTAGTCTCACAGGAGCTG	0.393																																																	0													100	97	98					2																	179597987		1890	4122	6012	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15082G>A	2.37:g.179597987C>T	ENSP00000465570:p.Glu5028Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E4101K	ENST00000591111.1	37	c.12301		2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084606	0.36758	.	.	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36853	0.0982	N	0.02697	-0.525	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.32188	-0.9916	9	0.87932	D	0	.	7.977	0.30161	0.0:0.8159:0.0:0.1841	.	5028	Q8WZ42	TITIN_HUMAN	K	4101	ENSP00000343764:E4101K	ENSP00000343764:E4101K	E	-	1	0	TTN	179306232	0.998000	0.40836	0.998000	0.56505	0.910000	0.53928	2.884000	0.48562	2.871000	0.98454	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179597987	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.991	T	T	179597987	C	T	179597987	3	4	117	1	0	0	0	0	1	0	0	0	16766	835	29	1	88732	1	TTN	2	179597987	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	16125	179597987	63601386	198	17666										
TTN	7273	genome.wustl.edu	37	chr2	179598510	179598510	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgatgacctcttgacctttCatccatgtgacagaaatggg	9	10	2	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179598510C>T	ENST00000591111.1	-	51	14879	c.14655G>A	c.(14653-14655)atG>atA	p.M4885I	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M3958I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M5202I			Q8WZ42	TITIN_HUMAN	titin	12266	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGACCTTTCATCCATGTGA	0.428																																																	0													176	168	170					2																	179598510		1927	4153	6080	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14655G>A	2.37:g.179598510C>T	ENSP00000465570:p.Met4885Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.M3958I	ENST00000591111.1	37	c.11874		2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879917	0.33162	.	.	ENSG00000155657	ENST00000342992	T	0.39997	1.05	5.79	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35770	0.0943	L	0.31476	0.935	0.80722	D	1	B	0.20164	0.042	B	0.24701	0.055	T	0.18429	-1.0337	9	0.87932	D	0	.	15.0207	0.71630	0.0:0.9318:0.0:0.0682	.	4885	Q8WZ42	TITIN_HUMAN	I	3958	ENSP00000343764:M3958I	ENSP00000343764:M3958I	M	-	3	0	TTN	179306755	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.466000	0.45084	1.451000	0.47736	-0.150000	0.13652	ATG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179598510	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179598510	C	T	179598510	3	4	117	1	0	0	0	0	1	0	0	0	16766	826	29	1	89163	1	TTN	2	179598510	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	523	179598510	63600863	199	17667										
TTN	7273	genome.wustl.edu	37	chr2	179606109	179606109	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaagatggcaggaagcccttGagcacagcgaattggtttta	12	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179606109G>A	ENST00000591111.1	-	46	11124	c.10900C>T	c.(10900-10902)Caa>Taa	p.Q3634*	TTN_ENST00000342175.6_Nonsense_Mutation_p.Q3780*|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q3713*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q3588*|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q3951*			Q8WZ42	TITIN_HUMAN	titin	13940	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAGCCCTTGAGCACAGCGA	0.463																																																	0													145	140	142					2																	179606109		1922	4142	6064	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10900C>T	2.37:g.179606109G>A	ENSP00000465570:p.Gln3634*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q3780*	ENST00000591111.1	37	c.11338		2	.	.	.	.	.	.	.	.	.	.	G	51	18.543798	0.99907	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2467	0.82448	0.0:0.2503:0.7497:0.0	.	.	.	.	X	3588;3780;3713;3588	.	ENSP00000340554:Q3780X	Q	-	1	0	TTN	179314354	0.595000	0.26857	0.007000	0.13788	0.296000	0.27459	3.587000	0.53957	1.587000	0.49959	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179606109	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	nonsense	SNP	0.123	A	A	179606109	G	A	179606109	4	1	117	1	0	0	0	0	0	1	0	0	16766	1299	45	1	92938	1	TTN	2	179606109	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7599	179606109	63593264	200	17668										
SSFA2	6744	genome.wustl.edu	37	chr2	182780221	182780221	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtagtccaggggatcatatCattgaaattactgaagtgga	11	5	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:182780221C>G	ENST00000431877.2	+	11	2033	c.1854C>G	c.(1852-1854)atC>atG	p.I618M	SSFA2_ENST00000409001.1_Missense_Mutation_p.I618M|SSFA2_ENST00000320370.7_Missense_Mutation_p.I618M|SSFA2_ENST00000409136.1_Missense_Mutation_p.I127M|SSFA2_ENST00000428267.2_Missense_Mutation_p.I465M	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	618						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGATCATATCATTGAAATTA	0.433																																																	0													80	71	74					2																	182780221		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1854C>G	2.37:g.182780221C>G	ENSP00000388731:p.Ile618Met		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.I618M	ENST00000431877.2	37	c.1854	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	0.890	-0.725924	0.03158	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.14640	2.72;2.49;2.72;2.72;2.49	5.71	-1.18	0.09617	.	2.006720	0.02014	N	0.047261	T	0.13543	0.0328	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.002;0.002;0.002	T	0.34229	-0.9837	10	0.42905	T	0.14	2.2928	8.4784	0.33027	0.0:0.21:0.5037:0.2863	.	465;127;618;618;618	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	M	618;618;618;465;127	ENSP00000388731:I618M;ENSP00000314669:I618M;ENSP00000387319:I618M;ENSP00000409867:I465M;ENSP00000386916:I127M	ENSP00000314669:I618M	I	+	3	3	SSFA2	182488466	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.442000	0.06871	-0.450000	0.07107	-0.417000	0.06048	ATC	SSFA2	-	NULL		0.433	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	C	NM_006751		182780221	1	no_errors	ENST00000431877	ensembl	human	known	70_37	missense	SNP	0.000	G	G	182780221	C	G	182780221	3	3	117	1	0	0	0	0	1	0	0	0	15213	816	29	1	1896	1	SSFA2	2	182780221	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3174112	182780221	60419152	201	17669										
PDE1A	5136	genome.wustl.edu	37	chr2	183066180	183066180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggcacctgcaggaaaaactCctccattagggccatggtcc	10	13	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:183066180C>T	ENST00000410103.1	-	11	1242	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PDE1A_ENST00000351439.5_Missense_Mutation_p.E371K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E371K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E387K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E387K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E353K|PDE1A_ENST00000435564.1_Missense_Mutation_p.E387K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E387K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E283K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	387	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGAAAAACTCCTCCATTAGG	0.493																																																	0													152	153	153					2																	183066180		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1159G>A	2.37:g.183066180C>T	ENSP00000387037:p.Glu387Lys		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E387K	ENST00000410103.1	37	c.1159	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.148170	0.94603	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.12	5.12	0.69794	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.052819	0.85682	D	0.000000	D	0.96935	0.8999	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0	D	0.98760	1.0724	10	0.87932	D	0	.	17.5219	0.87790	0.0:1.0:0.0:0.0	.	283;353;387;371;387	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	387;353;283;371;387;371;387;387;387	ENSP00000410309:E387K;ENSP00000329112:E353K;ENSP00000439938:E283K;ENSP00000386767:E371K;ENSP00000331574:E387K;ENSP00000309269:E371K;ENSP00000387037:E387K;ENSP00000350858:E387K;ENSP00000408874:E387K	ENSP00000331574:E387K	E	-	1	0	PDE1A	182774425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.704000	0.84595	2.348000	0.79779	0.655000	0.94253	GAG	PDE1A	-	pfam_PDEase_catalytic_dom,prints_PDEase		0.493	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	C			183066180	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183066180	C	T	183066180	3	4	117	1	0	0	0	0	1	0	0	0	11657	864	30	1	546	1	PDE1A	2	183066180	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	285959	183066180	60133193	202	17670										
FRZB	2487	genome.wustl.edu	37	chr2	183731215	183731215	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgggcacccggagcaggcaGagagcagccagggcaagcag	17	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:183731215G>C	ENST00000295113.4	-	1	675	c.66C>G	c.(64-66)ctC>ctG	p.L22L		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	22					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGAGCAGGCAGAGAGCAGCCA	0.706																																																	0													12	12	12					2																	183731215		2200	4290	6490	SO:0001819	synonymous_variant	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.66C>G	2.37:g.183731215G>C			O00181|Q99686	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.L22	ENST00000295113.4	37	c.66	CCDS2286.1	2																																																																																			FRZB	-	NULL		0.706	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	G	NM_001463		183731215	-1	no_errors	ENST00000295113	ensembl	human	known	70_37	silent	SNP	0.978	C	C	183731215	G	C	183731215	2	2	117	1	0	0	0	0	0	0	0	1	6083	929	33	1		1	FRZB	2	183731215	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	665035	183731215	59468158	203	17671										
HIBCH	26275	genome.wustl.edu	37	chr2	191114420	191114420	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttcttttgaaggagatttCaaggctaacaaatcttcctc	6	8	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:191114420C>G	ENST00000359678.5	-	9	990	c.696G>C	c.(694-696)ttG>ttC	p.L232F	HIBCH_ENST00000392332.3_Missense_Mutation_p.L232F|HIBCH_ENST00000410045.1_Missense_Mutation_p.L9F	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	232					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAGGAGATTTCAAGGCTAACA	0.333																																																	0													51	53	52					2																	191114420		2202	4297	6499	SO:0001583	missense	26275			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.696G>C	2.37:g.191114420C>G	ENSP00000352706:p.Leu232Phe		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core	p.L232F	ENST00000359678.5	37	c.696	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281565	0.40394	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000409820	T;T	0.67523	-0.27;0.11	5.43	2.63	0.31362	.	0.070383	0.64402	D	0.000017	T	0.69691	0.3139	M	0.88377	2.95	0.51482	D	0.999929	B;B	0.27068	0.167;0.058	B;B	0.31442	0.13;0.061	T	0.67090	-0.5758	10	0.62326	D	0.03	-1.0477	8.2333	0.31612	0.0:0.743:0.0:0.257	.	232;232	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	F	232;232;9;12	ENSP00000376144:L232F;ENSP00000352706:L232F	ENSP00000352706:L232F	L	-	3	2	HIBCH	190822665	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	0.714000	0.25808	0.341000	0.23771	0.655000	0.94253	TTG	HIBCH	-	NULL		0.333	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	C			191114420	-1	no_errors	ENST00000359678	ensembl	human	known	70_37	missense	SNP	1.000	G	G	191114420	C	G	191114420	3	3	117	1	0	0	0	0	1	0	0	0	7120	825	29	1	488	1	HIBCH	2	191114420	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7383205	191114420	52084953	204	17672										
CCDC150	284992	genome.wustl.edu	37	chr2	197596856	197596856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggttgcagaggccttctgggGaagacaggtggcaggaaaag	18	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:197596856G>A	ENST00000389175.4	+	27	3304	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K	CCDC150_ENST00000409270.1_Missense_Mutation_p.E544K|CCDC150_ENST00000272831.7_Missense_Mutation_p.E704K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1057										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTTCTGGGGAAGACAGGTG	0.423																																																	0													90	91	91					2																	197596856		1855	4099	5954	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3169G>A	2.37:g.197596856G>A	ENSP00000373827:p.Glu1057Lys		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E1057K	ENST00000389175.4	37	c.3169	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042037	0.75732	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.54675	0.56	5.29	4.38	0.52667	.	0.117721	0.38217	N	0.001764	T	0.66636	0.2809	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.85130	0.747;0.997	T	0.63812	-0.6552	10	0.39692	T	0.17	-8.3249	13.4532	0.61182	0.0:0.1561:0.8439:0.0	.	704;1057	B4DZ03;Q8NCX0	.;CC150_HUMAN	K	704;1057;544	ENSP00000373827:E1057K	ENSP00000272831:E704K	E	+	1	0	CCDC150	197305101	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	3.521000	0.53472	2.759000	0.94783	0.555000	0.69702	GAA	CCDC150	-	NULL		0.423	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	G	NM_001080539		197596856	1	no_errors	ENST00000389175	ensembl	human	known	70_37	missense	SNP	0.968	A	A	197596856	G	A	197596856	3	1	117	1	0	0	0	0	1	0	0	0	2790	1175	41	1	3275	1	CCDC150	2	197596856	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6482436	197596856	45602517	205	17673										
PGAP1	80055	genome.wustl.edu	37	chr2	197791251	197791251	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacttattctcctcgaagccGaagaagacatcccacagccc	6	16	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:197791251G>A	ENST00000354764.4	-	1	204	c.90C>T	c.(88-90)ttC>ttT	p.F30F	PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Silent_p.F30F|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	30					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CCTCGAAGCCGAAGAAGACAT	0.522																																																	0													198	220	213					2																	197791251		2203	4300	6503	SO:0001819	synonymous_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.90C>T	2.37:g.197791251G>A			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	pfam_PGAP1-like	p.F30	ENST00000354764.4	37	c.90	CCDS2318.1	2																																																																																			PGAP1	-	NULL		0.522	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197791251	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	silent	SNP	0.995	A	A	197791251	G	A	197791251	2	1	117	1	0	0	0	0	0	0	0	1	11801	1049	37	1		1	PGAP1	2	197791251	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	194395	197791251	45408122	206	17674										
ANKRD44	91526	genome.wustl.edu	37	chr2	197873681	197873681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacttactgtcctttggcatCtttcacatcgaccgcctccg	6	16	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:197873681C>T	ENST00000328737.2	-	19	2000	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	ANKRD44_ENST00000282272.8_Missense_Mutation_p.D659N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.D642N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D642N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	667										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTTTGGCATCTTTCACATCG	0.458																																																	0													129	125	126					2																	197873681		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1924G>A	2.37:g.197873681C>T	ENSP00000331516:p.Asp642Asn		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D642N	ENST00000328737.2	37	c.1924		2	.	.	.	.	.	.	.	.	.	.	C	31	5.079706	0.94050	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.17528	2.28;2.28;2.27;2.27;2.27	4.47	4.47	0.54385	.	0.120014	0.53938	D	0.000049	T	0.33585	0.0868	L	0.41236	1.265	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.03296	-1.1051	10	0.40728	T	0.16	.	17.3172	0.87227	0.0:1.0:0.0:0.0	.	685	Q8N8A2-2	.	N	482;659;642;642;642	ENSP00000403415:D482N;ENSP00000282272:D659N;ENSP00000331516:D642N;ENSP00000402420:D642N;ENSP00000338794:D642N	ENSP00000282272:D659N	D	-	1	0	ANKRD44	197581926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.462000	0.80851	2.323000	0.78572	0.462000	0.41574	GAT	ANKRD44	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.458	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197873681	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197873681	C	T	197873681	3	4	117	1	0	0	0	0	1	0	0	0	672	913	32	1	867	1	ANKRD44	2	197873681	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	82430	197873681	45325692	207	17675										
ORC2L	4999	genome.wustl.edu	37	chr2	201791584	201791584	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacctttctagtaaatctctCttagaacccaaaccataaag	3	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:201791584C>T	ENST00000234296.2	-	12	1206	c.957G>A	c.(955-957)aaG>aaA	p.K319K	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	319					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTAAATCTCTCTTAGAACCCA	0.363																																																	0													110	102	105					2																	201791584		2203	4300	6503	SO:0001819	synonymous_variant	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.957G>A	2.37:g.201791584C>T			Q13204|Q53TX5	Silent	SNP	pfam_ORC2	p.K319	ENST00000234296.2	37	c.957	CCDS2334.1	2																																																																																			ORC2	-	pfam_ORC2		0.363	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	C	NM_006190		201791584	-1	no_errors	ENST00000234296	ensembl	human	known	70_37	silent	SNP	1.000	T	T	201791584	C	T	201791584	2	4	117	1	0	0	0	0	0	0	0	1	11286	912	32	1		1	ORC2L	2	201791584	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3917903	201791584	41407789	208	17676										
BMPR2	659	genome.wustl.edu	37	chr2	203242268	203242268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcctgctggtcagcactgCggctggtgagtagctccggc	14	13	1	1	rs370120266		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:203242268C>A	ENST00000374580.4	+	1	610	c.71C>A	c.(70-72)gCg>gAg	p.A24E	BMPR2_ENST00000374574.2_Missense_Mutation_p.A24E|RP11-686O6.2_ENST00000607928.1_lincRNA	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	24					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GTCAGCACTGCGGCTGGTGAG	0.701																																																	0													44	47	46					2																	203242268		2203	4299	6502	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.71C>A	2.37:g.203242268C>A	ENSP00000363708:p.Ala24Glu		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A24E	ENST00000374580.4	37	c.71	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124651	0.06795	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.88586	-2.4;-2.29	5.4	3.6	0.41247	.	0.552403	0.17356	N	0.177204	T	0.79009	0.4374	N	0.08118	0	0.24774	N	0.99285	B;B;B	0.27498	0.02;0.047;0.18	B;B;B	0.33521	0.008;0.02;0.165	T	0.70769	-0.4782	10	0.62326	D	0.03	.	9.0794	0.36542	0.0:0.8284:0.0:0.1716	.	24;24;24	Q13161;Q13873;A8K8R5	.;BMPR2_HUMAN;.	E	24	ENSP00000363708:A24E;ENSP00000363702:A24E	ENSP00000363702:A24E	A	+	2	0	BMPR2	202950513	1.000000	0.71417	0.991000	0.47740	0.072000	0.16883	4.370000	0.59517	0.664000	0.31047	-0.251000	0.11542	GCG	BMPR2	-	NULL		0.701	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	C	NM_001204		203242268	1	no_errors	ENST00000374580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	203242268	C	A	203242268	3	1	117	1	0	0	0	0	1	0	0	0	1472	768	27	2	73	2	BMPR2	2	203242268	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1450684	203242268	39957105	209	17677										
MDH1B	130752	genome.wustl.edu	37	chr2	207619773	207619773	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttctggccagtatggctttCgcttcaccttccacccccag	7	16	2	0	rs61998221	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:207619773C>T	ENST00000374412.3	-	5	1145	c.870G>A	c.(868-870)gcG>gcA	p.A290A	MDH1B_ENST00000449792.1_Silent_p.A192A|MDH1B_ENST00000454776.2_Silent_p.A290A|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	290					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTATGGCTTTCGCTTCACCTT	0.423																																					Pancreas(76;29 1355 28675 37177 51207)												0													87	81	83					2																	207619773		2203	4300	6503	SO:0001819	synonymous_variant	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.870G>A	2.37:g.207619773C>T			A8K8M1|Q53TK9|Q8IV51	Silent	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.A290	ENST00000374412.3	37	c.870	CCDS33365.1	2																																																																																			MDH1B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C		0.423	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207619773	-1	no_errors	ENST00000374412	ensembl	human	known	70_37	silent	SNP	0.942	T	T	207619773	C	T	207619773	2	4	117	1	0	0	0	0	0	0	0	1	9432	871	31	1		1	MDH1B	2	207619773	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4377505	207619773	35579600	210	17678										
MAP2	4133	genome.wustl.edu	37	chr2	210543385	210543385	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaaagaagctcaacataaaGaccagactgcagctctgcct	8	11	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:210543385G>C	ENST00000360351.4	+	5	858	c.352G>C	c.(352-354)Gac>Cac	p.D118H	MAP2_ENST00000447185.1_Missense_Mutation_p.D118H|MAP2_ENST00000199940.6_Missense_Mutation_p.D118H|MAP2_ENST00000392194.1_Missense_Mutation_p.D118H|MAP2_ENST00000361559.4_Missense_Mutation_p.D118H	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	118					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCAACATAAAGACCAGACTGC	0.438																																					Pancreas(27;423 979 28787 29963)												0													111	104	106					2																	210543385		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.352G>C	2.37:g.210543385G>C	ENSP00000353508:p.Asp118His		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.D118H	ENST00000360351.4	37	c.352	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405398	0.83230	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.06	5.06	0.68205	.	0.220166	0.31156	N	0.008148	T	0.31575	0.0801	N	0.14661	0.345	0.43662	D	0.996088	D;P;D;B;D;D	0.89917	1.0;0.729;0.998;0.38;1.0;0.999	D;P;P;B;D;D	0.97110	1.0;0.526;0.861;0.122;0.999;0.936	T	0.25779	-1.0122	10	0.46703	T	0.11	-8.0202	18.4525	0.90709	0.0:0.0:1.0:0.0	.	118;118;119;118;118;118	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	H	118;118;118;118;118;118;44	ENSP00000199940:D118H;ENSP00000353508:D118H;ENSP00000355290:D118H;ENSP00000409969:D118H;ENSP00000376032:D118H;ENSP00000392164:D118H;ENSP00000388824:D44H	ENSP00000199940:D118H	D	+	1	0	MAP2	210251630	1.000000	0.71417	0.908000	0.35775	0.881000	0.50899	5.363000	0.66104	2.324000	0.78689	0.655000	0.94253	GAC	MAP2	-	NULL		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210543385	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	C	C	210543385	G	C	210543385	3	2	117	1	0	0	0	0	1	0	0	0	9258	942	33	1	358	1	MAP2	2	210543385	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2923612	210543385	32655988	211	17679										
FN1	2335	genome.wustl.edu	37	chr2	216242904	216242904	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attttgttacttactctccaGagtggtgacaactccctgag	8	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:216242904G>C	ENST00000359671.1	-	34	5696	c.5431C>G	c.(5431-5433)Ctg>Gtg	p.L1811V	FN1_ENST00000345488.5_Missense_Mutation_p.L1811V|FN1_ENST00000356005.4_Missense_Mutation_p.L1721V|FN1_ENST00000354785.4_Missense_Mutation_p.L1902V|FN1_ENST00000357867.4_Missense_Mutation_p.L1721V|FN1_ENST00000346544.3_Missense_Mutation_p.L1811V|FN1_ENST00000443816.1_Missense_Mutation_p.L1721V|FN1_ENST00000357009.2_Missense_Mutation_p.L1811V|FN1_ENST00000336916.4_Missense_Mutation_p.L1811V|FN1_ENST00000421182.1_Missense_Mutation_p.L1721V|FN1_ENST00000446046.1_Missense_Mutation_p.L1811V|FN1_ENST00000323926.6_Missense_Mutation_p.L1902V|FN1_ENST00000432072.2_Missense_Mutation_p.L1812V|FN1_ENST00000490833.1_5'Flank			P02751	FINC_HUMAN	fibronectin 1	1811	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTACTCTCCAGAGTGGTGACA	0.413																																																	0													140	121	127					2																	216242904		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5431C>G	2.37:g.216242904G>C	ENSP00000352696:p.Leu1811Val		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.L1902V	ENST00000359671.1	37	c.5704		2	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377106	0.24857	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.68;2.05;2.24;0.8;2.29;1.91;2.29;1.95;2.24;1.96;1.46;0.79;1.33;0.66	5.47	2.31	0.28768	Fibronectin, type III (1);	0.000000	0.50627	D	0.000103	T	0.57681	0.2070	M	0.65498	2.005	0.09310	N	0.999997	P;D;P;P;D;P;P;D;D;D;D;P	0.58620	0.933;0.965;0.913;0.83;0.965;0.94;0.84;0.97;0.963;0.963;0.983;0.948	D;P;P;P;P;P;B;P;D;D;P;P	0.68943	0.961;0.752;0.582;0.693;0.671;0.569;0.34;0.625;0.961;0.961;0.792;0.575	T	0.51857	-0.8652	10	0.09084	T	0.74	.	10.5521	0.45095	0.2725:0.0:0.7275:0.0	.	1811;1812;1902;1721;1721;1811;1811;1812;1721;1721;1902;1811	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	V	1721;1902;1811;1721;1902;1812;1811;1811;1811;1811;1811;1721;1812;1721;528	ENSP00000394423:L1721V;ENSP00000323534:L1902V;ENSP00000338200:L1811V;ENSP00000350534:L1721V;ENSP00000346839:L1902V;ENSP00000352696:L1811V;ENSP00000265312:L1811V;ENSP00000273049:L1811V;ENSP00000349509:L1811V;ENSP00000410422:L1811V;ENSP00000415018:L1721V;ENSP00000399538:L1812V;ENSP00000348285:L1721V;ENSP00000416139:L528V	ENSP00000265313:L1812V	L	-	1	2	FN1	215951149	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.330000	0.52068	0.688000	0.31529	0.650000	0.86243	CTG	FN1	-	superfamily_Fibronectin_type3		0.413	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216242904	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	0.924	C	C	216242904	G	C	216242904	3	2	117	1	0	0	0	0	1	0	0	0	5980	933	33	1	1777	1	FN1	2	216242904	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5699519	216242904	26956469	212	17680										
CDK5R2	8941	genome.wustl.edu	37	chr2	219825346	219825346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcctcacctgcctctacctCgcctactcctacatgggcaa	5	18	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:219825346C>T	ENST00000302625.4	+	1	970	c.804C>T	c.(802-804)ctC>ctT	p.L268L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	268					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCTACCTCGCCTACTCCT	0.662																																																	0													114	113	113					2																	219825346		2203	4300	6503	SO:0001819	synonymous_variant	8941			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"neuronal CDK5 activator isoform"	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.804C>T	2.37:g.219825346C>T			Q4ZFW6	Silent	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.L268	ENST00000302625.4	37	c.804	CCDS2427.1	2																																																																																			CDK5R2	-	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator		0.662	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R2	HGNC	protein_coding	OTTHUMT00000256728.1	C	NM_003936		219825346	1	no_errors	ENST00000302625	ensembl	human	known	70_37	silent	SNP	1.000	T	T	219825346	C	T	219825346	2	4	117	1	0	0	0	0	0	0	0	1	3149	871	31	1		1	CDK5R2	2	219825346	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3582442	219825346	23374027	213	17681										
CCDC108	255101	genome.wustl.edu	37	chr2	219868819	219868819	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctcactttctcttccttctCatccctctcctcctccttct	1	20	5	0	rs111416503	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:219868819C>T	ENST00000341552.5	-	33	5493	c.5410G>A	c.(5410-5412)Gag>Aag	p.E1804K	MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1804K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1804K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1804	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcttccttctcatccctctcc	0.557																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	175	161	166		5410	3.1	0	2	dbSNP_132	166	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CCDC108	NM_194302.2	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	1804/1926	219868819	4,13002	2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5410G>A	2.37:g.219868819C>T	ENSP00000340776:p.Glu1804Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1804K	ENST00000341552.5	37	c.5410	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835731	0.32421	2.27E-4	3.49E-4	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07216	3.21;3.21;3.21	3.07	3.07	0.35406	.	1.560380	0.04408	N	0.365473	T	0.07369	0.0186	N	0.22421	0.69	0.18873	N	0.999989	B	0.31548	0.328	B	0.33254	0.16	T	0.32640	-0.9899	10	0.19590	T	0.45	-0.0358	8.072	0.30695	0.2422:0.7578:0.0:0.0	.	1804	Q6ZU64	CC108_HUMAN	K	1804	ENSP00000340776:E1804K;ENSP00000413377:E1804K;ENSP00000409117:E1804K	ENSP00000340776:E1804K	E	-	1	0	CCDC108	219577063	0.004000	0.15560	0.008000	0.14137	0.068000	0.16541	0.880000	0.28159	1.655000	0.50712	0.561000	0.74099	GAG	CCDC108	-	NULL		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868819	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.044	T	T	219868819	C	T	219868819	3	4	117	1	0	0	0	0	1	0	0	0	2748	835	29	1	379	1	CCDC108	2	219868819	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	43473	219868819	23330554	214	17682										
OBSL1	23363	genome.wustl.edu	37	chr2	220418361	220418361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaacgtagctgtgtcgccctCggtcacctctaggtcgtgtg	13	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:220418361C>T	ENST00000404537.1	-	16	4980	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.E1550K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1642	Ig-like 13.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGTCGCCCTCGGTCACCTCT	0.622											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													52	55	54					2																	220418361		2093	4207	6300	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4924G>A	2.37:g.220418361C>T	ENSP00000385636:p.Glu1642Lys	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1642K	ENST00000404537.1	37	c.4924	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990892	0.93106	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.06768	3.26;3.26	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19725	0.0474	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.06303	-1.0834	9	0.13108	T	0.6	.	15.348	0.74355	0.0:1.0:0.0:0.0	.	1642	O75147	OBSL1_HUMAN	K	1642;1550	ENSP00000385636:E1642K;ENSP00000362983:E1550K	ENSP00000362983:E1550K	E	-	1	0	OBSL1	220126605	0.999000	0.42202	0.992000	0.48379	0.980000	0.70556	4.767000	0.62286	2.198000	0.70561	0.561000	0.74099	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.622	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220418361	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.998	T	T	220418361	C	T	220418361	3	4	117	1	0	0	0	0	1	0	0	0	10837	893	31	1	790	1	OBSL1	2	220418361	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	549542	220418361	22781012	215	17683										
OBSL1	23363	genome.wustl.edu	37	chr2	220420784	220420784	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtgcgatcgtggtggctctCgcagccgtaggtgccctggt	17	11	1	0	rs368547852		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:220420784C>G	ENST00000404537.1	-	14	4623	c.4567G>C	c.(4567-4569)Gag>Cag	p.E1523Q	OBSL1_ENST00000603926.1_Missense_Mutation_p.E1523Q|OBSL1_ENST00000265318.4_Silent_p.A1389A|OBSL1_ENST00000373876.1_Missense_Mutation_p.E1431Q|OBSL1_ENST00000265317.5_Missense_Mutation_p.E422Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1523	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGTGGCTCTCGCAGCCGTAG	0.632																																																	0													39	43	42					2																	220420784		2113	4228	6341	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4567G>C	2.37:g.220420784C>G	ENSP00000385636:p.Glu1523Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1523Q	ENST00000404537.1	37	c.4567	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274506	0.40194	.	.	ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317	T;T;T	0.65732	-0.17;-0.17;-0.17	4.39	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61324	0.2338	N	0.20986	0.625	0.80722	D	1	D;P;D;D	0.63880	0.993;0.787;0.982;0.982	D;P;D;P	0.65140	0.928;0.719;0.932;0.905	T	0.53344	-0.8452	9	0.15952	T	0.53	.	12.8486	0.57844	0.0:0.9068:0.0:0.0932	.	330;1524;1523;422	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	Q	1523;1431;422	ENSP00000385636:E1523Q;ENSP00000362983:E1431Q;ENSP00000265317:E422Q	ENSP00000265317:E422Q	E	-	1	0	OBSL1	220129028	1.000000	0.71417	0.977000	0.42913	0.266000	0.26442	5.754000	0.68743	2.270000	0.75569	0.491000	0.48974	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220420784	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.999	G	G	220420784	C	G	220420784	3	3	117	1	0	0	0	0	1	0	0	0	10837	893	31	1	1178	1	OBSL1	2	220420784	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2423	220420784	22778589	216	17684										
SP100	6672	genome.wustl.edu	37	chr2	231313845	231313845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagcctgacttggccaccttCgggttccccatctcatgctg	9	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:231313845C>T	ENST00000264052.5	+	6	921	c.566C>T	c.(565-567)tCg>tTg	p.S189L	SP100_ENST00000409824.1_Missense_Mutation_p.S164L|SP100_ENST00000409341.1_Missense_Mutation_p.S189L|SP100_ENST00000340126.4_Missense_Mutation_p.S189L|SP100_ENST00000409897.1_Missense_Mutation_p.S154L|SP100_ENST00000341950.4_Missense_Mutation_p.S189L|SP100_ENST00000409112.1_Missense_Mutation_p.S189L|SP100_ENST00000427101.2_Missense_Mutation_p.S164L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	189					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGCCACCTTCGGGTTCCCCA	0.458																																																	0													143	131	135					2																	231313845		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.566C>T	2.37:g.231313845C>T	ENSP00000264052:p.Ser189Leu		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.S189L	ENST00000264052.5	37	c.566	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329224	0.05314	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;T;T;T;T;T	0.80393	2.28;2.18;0.88;2.18;2.17;-1.37;0.2;2.16;2.17	3.56	-4.41	0.03590	.	.	.	.	.	T	0.54303	0.1850	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.25048	0.066;0.0;0.043;0.0;0.043;0.0;0.001;0.117	B;B;B;B;B;B;B;B	0.15870	0.006;0.0;0.004;0.0;0.004;0.0;0.0;0.014	T	0.39251	-0.9623	9	0.18710	T	0.47	.	1.7755	0.03021	0.1109:0.3104:0.2375:0.3412	.	164;189;154;189;189;189;164;189	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	L	189;164;164;164;189;189;189;189;154	ENSP00000264052:S189L;ENSP00000399389:S164L;ENSP00000391616:S164L;ENSP00000387311:S164L;ENSP00000386404:S189L;ENSP00000386427:S189L;ENSP00000343023:S189L;ENSP00000342729:S189L;ENSP00000386998:S154L	ENSP00000264052:S189L	S	+	2	0	SP100	231022089	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.349000	0.07731	-1.662000	0.01482	-2.057000	0.00402	TCG	SP100	-	NULL		0.458	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	C	NM_003113		231313845	1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	T	T	231313845	C	T	231313845	3	4	117	1	0	0	0	0	1	0	0	0	14990	893	31	1	588	1	SP100	2	231313845	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10893061	231313845	11885528	217	17685										
COL6A3	1293	genome.wustl.edu	37	chr2	238249571	238249571	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgtgctgcacaactgccactCtggcgaagtgctgggaggcc	14	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:238249571C>G	ENST00000295550.4	-	38	8440	c.7988G>C	c.(7987-7989)aGa>aCa	p.R2663T	COL6A3_ENST00000472056.1_Missense_Mutation_p.R2056T|COL6A3_ENST00000353578.4_Missense_Mutation_p.R2457T|COL6A3_ENST00000409809.1_Missense_Mutation_p.R2457T|COL6A3_ENST00000347401.3_Missense_Mutation_p.R2462T|COL6A3_ENST00000346358.4_Missense_Mutation_p.R2463T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2663	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACTGCCACTCTGGCGAAGTG	0.557																																																	0													104	98	100					2																	238249571		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7988G>C	2.37:g.238249571C>G	ENSP00000295550:p.Arg2663Thr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2663T	ENST00000295550.4	37	c.7988	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050694	0.36181	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	D	0.94268	0.8159	M	0.85777	2.775	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.988;0.998	D	0.95018	0.8158	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	2056;2457;2663	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2663;2462;2457;2056;2457;2463	ENSP00000295550:R2663T;ENSP00000315609:R2462T;ENSP00000315873:R2457T;ENSP00000418285:R2056T;ENSP00000386844:R2457T;ENSP00000295546:R2463T	ENSP00000295550:R2663T	R	-	2	0	COL6A3	237914310	0.998000	0.40836	0.857000	0.33713	0.782000	0.44232	7.684000	0.84104	2.478000	0.83669	0.655000	0.94253	AGA	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238249571	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	G	G	238249571	C	G	238249571	3	3	117	1	0	0	0	0	1	0	0	0	3706	913	32	1	1573	1	COL6A3	2	238249571	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6935726	238249571	4949802	218	17686										
RNPEPL1	57140	genome.wustl.edu	37	chr2	241516041	241516041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagcctgacccggcccgtgGaggcccttttccagctgtgg	13	16	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:241516041G>C	ENST00000270357.4	+	9	1500	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	303					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E303Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCGGCCCGTGGAGGCCCTTTT	0.652																																																	1	Substitution - Missense(1)	lung(1)											35	39	37					2																	241516041		2203	4293	6496	SO:0001583	missense	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.907G>C	2.37:g.241516041G>C	ENSP00000270357:p.Glu303Gln		Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.E303Q	ENST00000270357.4	37	c.907		2	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632769	0.14322	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.44083	0.93;0.93	4.36	4.36	0.52297	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.123337	0.53938	D	0.000044	T	0.35799	0.0944	L	0.41236	1.265	0.37458	D	0.915113	P;B	0.36909	0.573;0.064	B;B	0.37833	0.23;0.259	T	0.35301	-0.9794	10	0.28530	T	0.3	-25.1541	14.3682	0.66820	0.0:0.0:1.0:0.0	.	209;303	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	Q	81;303;56	ENSP00000270357:E303Q;ENSP00000403319:E56Q	ENSP00000270357:E303Q	E	+	1	0	RNPEPL1	241164714	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.367000	0.59498	1.979000	0.57680	0.491000	0.48974	GAG	RNPEPL1	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold		0.652	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241516041	1	no_errors	ENST00000270357	ensembl	human	known	70_37	missense	SNP	1.000	C	C	241516041	G	C	241516041	3	2	117	1	0	0	0	0	1	0	0	0	13540	1175	41	1	933	1	RNPEPL1	2	241516041	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3266470	241516041	1683332	219	17687										
ANO7	50636	genome.wustl.edu	37	chr2	242149031	242149031	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgccgcatgctggccggctCtgtggtgatcgtggtgatgg	18	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:242149031C>T	ENST00000274979.8	+	13	1605	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	ANO7_ENST00000402430.3_Missense_Mutation_p.S500F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	501					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGGCCGGCTCTGTGGTGATC	0.662																																																	0													53	56	55					2																	242149031		2203	4300	6503	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1502C>T	2.37:g.242149031C>T	ENSP00000274979:p.Ser501Phe		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.S501F	ENST00000274979.8	37	c.1502	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.469208	0.01053	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62232	0.04;0.04	3.09	3.09	0.35607	.	0.859005	0.10297	N	0.691633	T	0.47746	0.1462	N	0.25825	0.765	0.32171	N	0.581579	B	0.13594	0.008	B	0.17433	0.018	T	0.43845	-0.9366	10	0.09843	T	0.71	.	13.3125	0.60388	0.0:1.0:0.0:0.0	.	501	Q6IWH7	ANO7_HUMAN	F	501;500	ENSP00000274979:S501F;ENSP00000385418:S500F	ENSP00000274979:S501F	S	+	2	0	ANO7	241797704	0.242000	0.23868	0.203000	0.23512	0.027000	0.11550	0.611000	0.24268	1.455000	0.47813	0.306000	0.20318	TCT	ANO7	-	pfam_Anoctamin		0.662	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	C	NM_001001891		242149031	1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	1.000	T	T	242149031	C	T	242149031	3	4	117	1	0	0	0	0	1	0	0	0	702	913	32	1	1624	1	ANO7	2	242149031	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	632990	242149031	1050342	220	17688										
FARP2	9855	genome.wustl.edu	37	chr2	242430536	242430536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccgcgatccaagcagccaaGagtggcggtgacacggcccc	13	15	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:242430536G>C	ENST00000264042.3	+	23	2735	c.2565G>C	c.(2563-2565)aaG>aaC	p.K855N		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	855					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AAGCAGCCAAGAGTGGCGGTG	0.637																																																	0													79	80	80					2																	242430536		2203	4300	6503	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2565G>C	2.37:g.242430536G>C	ENSP00000264042:p.Lys855Asn		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.K855N	ENST00000264042.3	37	c.2565	CCDS33424.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.312083|3.312083	0.60414|0.60414	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000444371|ENST00000264042	.|T	.|0.44482	.|0.92	4.15|4.15	3.24|3.24	0.37175|0.37175	.|Pleckstrin homology-type (1);	.|0.165408	.|0.52532	.|N	.|0.000073	T|T	0.42899|0.42899	0.1223|0.1223	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|B	.|0.31383	.|0.321	.|B	.|0.28139	.|0.086	T|T	0.50197|0.50197	-0.8856|-0.8856	5|10	.|0.62326	.|D	.|0.03	.|.	14.3959|14.3959	0.67010|0.67010	0.0:0.1493:0.8507:0.0|0.0:0.1493:0.8507:0.0	.|.	.|855	.|O94887	.|FARP2_HUMAN	Q|N	49|855	.|ENSP00000264042:K855N	.|ENSP00000264042:K855N	E|K	+|+	1|3	0|2	FARP2|FARP2	242079209|242079209	0.998000|0.998000	0.40836|0.40836	0.462000|0.462000	0.27118|0.27118	0.429000|0.429000	0.31625|0.31625	2.039000|2.039000	0.41193|0.41193	1.018000|1.018000	0.39521|0.39521	0.655000|0.655000	0.94253|0.94253	GAG|AAG	FARP2	-	NULL		0.637	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242430536	1	no_errors	ENST00000264042	ensembl	human	known	70_37	missense	SNP	1.000	C	C	242430536	G	C	242430536	3	2	117	1	0	0	0	0	1	0	0	0	5695	933	33	1	2651	1	FARP2	2	242430536	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	281505	242430536	768837	221	17689										
LRRN1	57633	genome.wustl.edu	37	chr3	3886887	3886887	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttattgatagtcgctggtttGattctacacccaacctggaa	8	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:3886887G>C	ENST00000319331.3	+	2	1323	c.562G>C	c.(562-564)Gat>Cat	p.D188H	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	188						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGCTGGTTTGATTCTACACC	0.388																																																	0													106	114	111					3																	3886887		2203	4300	6503	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.562G>C	3.37:g.3886887G>C	ENSP00000314901:p.Asp188His		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D188H	ENST00000319331.3	37	c.562	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298546	0.81025	.	.	ENSG00000175928	ENST00000319331	T	0.24538	1.85	5.67	5.67	0.87782	.	0.103021	0.64402	D	0.000003	T	0.29716	0.0742	N	0.20881	0.62	0.58432	D	0.999999	P	0.46142	0.873	P	0.49140	0.601	T	0.01617	-1.1311	10	0.48119	T	0.1	.	19.7686	0.96352	0.0:0.0:1.0:0.0	.	188	Q6UXK5	LRRN1_HUMAN	H	188	ENSP00000314901:D188H	ENSP00000314901:D188H	D	+	1	0	LRRN1	3861887	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.787000	0.99055	2.665000	0.90641	0.591000	0.81541	GAT	LRRN1	-	smart_Leu-rich_rpt_typical-subtyp		0.388	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	G	NM_020873		3886887	1	no_errors	ENST00000319331	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3886887	G	C	3886887	3	2	117	1	0	0	0	0	1	0	0	0	9057	1290	45	1	564	1	LRRN1	3	3886887	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		3886887	194135543	222	17690										
ITPR1	3708	genome.wustl.edu	37	chr3	4836777	4836777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgttgtactggtgtgcccgCaacatgtctttctggagcag	13	9	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:4836777C>T	ENST00000443694.2	+	50	6792	c.6792C>T	c.(6790-6792)cgC>cgT	p.R2264R	ITPR1_ENST00000456211.2_Silent_p.R2216R|ITPR1_ENST00000423119.2_Silent_p.R2231R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.R2264R|ITPR1_ENST00000302640.8_Silent_p.R2264R|ITPR1_ENST00000357086.4_Silent_p.R2231R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2279					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGTGTGCCCGCAACATGTCTT	0.582																																																	0													113	112	112					3																	4836777		2058	4208	6266	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6792C>T	3.37:g.4836777C>T			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2264	ENST00000443694.2	37	c.6792	CCDS54551.1	3																																																																																			ITPR1	-	NULL		0.582	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	C	NM_002222		4836777	1	no_errors	ENST00000302640	ensembl	human	known	70_37	silent	SNP	0.958	T	T	4836777	C	T	4836777	2	4	117	1	0	0	0	0	0	0	0	1	7940	697	25	4		4	ITPR1	3	4836777	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	949890	4836777	193185653	223	17691										
SETD5	55209	genome.wustl.edu	37	chr3	9476152	9476152	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctcaggatggcttccttctCaactgtgacaagtgcaggta	10	10	2	1	rs376494447		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:9476152C>T	ENST00000406341.1	+	4	502	c.312C>T	c.(310-312)ctC>ctT	p.L104L	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Silent_p.L123L|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000402198.1_Silent_p.L104L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	104										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GCTTCCTTCTCAACTGTGACA	0.473																																																	0								C		0,3904		0,0,1952	95	98	97		312	4.9	1	3		97	2,8302		0,2,4150	no	coding-synonymous	SETD5	NM_001080517.1		0,2,6102	TT,TC,CC		0.0241,0.0,0.0164		104/1443	9476152	2,12206	1952	4152	6104	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.312C>T	3.37:g.9476152C>T			Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L104	ENST00000406341.1	37	c.312	CCDS46741.1	3																																																																																			SETD5	-	NULL		0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	C	XM_371614		9476152	1	no_errors	ENST00000402198	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9476152	C	T	9476152	2	4	117	1	0	0	0	0	0	0	0	1	14164	813	29	1		1	SETD5	3	9476152	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4639375	9476152	188546278	224	17692										
IQSEC1	9922	genome.wustl.edu	37	chr3	12977762	12977762	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atccagggccggtgcctcctCagtgtgcaggctgcggcagt	15	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:12977762C>T	ENST00000273221.4	-	3	1012	c.796G>A	c.(796-798)Gag>Aag	p.E266K	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	266					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGCCTCCTCAGTGTGCAGG	0.662																																																	0													66	65	65					3																	12977762		2203	4300	6503	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.796G>A	3.37:g.12977762C>T	ENSP00000273221:p.Glu266Lys		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.E266K	ENST00000273221.4	37	c.796	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474527	0.43942	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.60548	0.18;0.18	4.86	4.86	0.63082	.	1.214490	0.05846	N	0.620373	T	0.39835	0.1093	.	.	.	0.46222	D	0.99893	P;P;B	0.44627	0.736;0.839;0.203	B;B;B	0.32928	0.08;0.155;0.05	T	0.47328	-0.9126	9	0.07990	T	0.79	.	18.1623	0.89712	0.0:1.0:0.0:0.0	.	252;252;266	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	K	266;252;252	ENSP00000273221:E266K;ENSP00000402299:E252K	ENSP00000273221:E266K	E	-	1	0	IQSEC1	12952762	1.000000	0.71417	0.945000	0.38365	0.064000	0.16182	7.321000	0.79088	2.515000	0.84797	0.655000	0.94253	GAG	IQSEC1	-	NULL		0.662	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	C	NM_014869		12977762	-1	no_errors	ENST00000273221	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12977762	C	T	12977762	3	4	117	1	0	0	0	0	1	0	0	0	7837	835	29	1	2688	1	IQSEC1	3	12977762	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3501610	12977762	185044668	225	17693										
DAZL	1618	genome.wustl.edu	37	chr3	16635205	16635205	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggagtagcttcatgaactGaacattcatttggcacaact	9	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:16635205G>C	ENST00000399444.2	-	9	985	c.692C>G	c.(691-693)tCa>tGa	p.S231*	DAZL_ENST00000250863.8_Nonsense_Mutation_p.S251*	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	231					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTCATGAACTGAACATTCATT	0.308																																																	0													65	62	63					3																	16635205		1850	4088	5938	SO:0001587	stop_gained	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.692C>G	3.37:g.16635205G>C	ENSP00000382373:p.Ser231*		O15396|Q5HYB4|Q92909	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S231*	ENST00000399444.2	37	c.692	CCDS43059.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.134027	0.98085	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	.	.	.	5.82	4.95	0.65309	.	0.726392	0.13227	N	0.403969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.958	7.6358	0.28266	0.1469:0.1363:0.7168:0.0	.	.	.	.	X	251;231	.	ENSP00000250863:S251X	S	-	2	0	DAZL	16610209	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.919000	0.40015	1.482000	0.48325	0.650000	0.86243	TCA	DAZL	-	NULL		0.308	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZL	HGNC	protein_coding	OTTHUMT00000347261.2	G	NM_001351		16635205	-1	no_errors	ENST00000399444	ensembl	human	known	70_37	nonsense	SNP	0.967	C	C	16635205	G	C	16635205	4	2	117	1	0	0	0	0	0	1	0	0	4251	1294	45	1	207	1	DAZL	3	16635205	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3657443	16635205	181387225	226	17694										
TBC1D5	9779	genome.wustl.edu	37	chr3	17413625	17413625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgcatgtaaagctcaatatCatgcttcttcagtagatgat	8	7	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:17413625C>T	ENST00000253692.7	-	13	2601	c.937G>A	c.(937-939)Gat>Aat	p.D313N	TBC1D5_ENST00000429383.4_Missense_Mutation_p.D313N|TBC1D5_ENST00000446818.2_Missense_Mutation_p.D313N|TBC1D5_ENST00000429924.2_Missense_Mutation_p.D265N|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	313	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCTCAATATCATGCTTCTTC	0.368																																																	0													169	163	165					3																	17413625		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.937G>A	3.37:g.17413625C>T	ENSP00000253692:p.Asp313Asn		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D313N	ENST00000253692.7	37	c.937	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905401	0.92107	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.79	4.91	0.64330	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;0.997;1.0	T	0.68356	-0.5430	10	0.87932	D	0	-9.4153	16.8366	0.85958	0.0:0.8713:0.1287:0.0	.	265;313;313	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	N	313;313;313;265	ENSP00000253692:D313N;ENSP00000398127:D313N;ENSP00000402935:D313N;ENSP00000411925:D265N	ENSP00000253692:D313N	D	-	1	0	TBC1D5	17388629	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.786000	0.85741	1.439000	0.47511	0.491000	0.48974	GAT	TBC1D5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.368	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	C	NM_014744		17413625	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17413625	C	T	17413625	3	4	117	1	0	0	0	0	1	0	0	0	15653	826	29	1	1560	1	TBC1D5	3	17413625	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	778420	17413625	180608805	227	17695										
DYNC1LI1	51143	genome.wustl.edu	37	chr3	32612168	32612168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgcggcgccaccgttgcccGacgctatctcgttgcccaag	11	18	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:32612168G>A	ENST00000273130.4	-	1	198	c.95C>T	c.(94-96)tCg>tTg	p.S32L	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.S32L	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	32					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCGTTGCCCGACGCTATCTC	0.677																																																	0													25	27	26					3																	32612168		2201	4297	6498	SO:0001583	missense	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.95C>T	3.37:g.32612168G>A	ENSP00000273130:p.Ser32Leu		A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.S32L	ENST00000273130.4	37	c.95	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428690	0.83667	.	.	ENSG00000144635	ENST00000273130;ENST00000432458;ENST00000424991	T;T;T	0.46063	2.23;0.88;1.89	5.13	4.2	0.49525	.	0.819414	0.11279	N	0.580503	T	0.26846	0.0657	N	0.08118	0	0.21020	N	0.999803	B;B	0.23591	0.026;0.088	B;B	0.23275	0.027;0.045	T	0.16424	-1.0403	10	0.56958	D	0.05	-1.0908	13.5542	0.61749	0.0:0.1562:0.8437:0.0	.	32;32	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	L	32	ENSP00000273130:S32L;ENSP00000407279:S32L;ENSP00000409019:S32L	ENSP00000273130:S32L	S	-	2	0	DYNC1LI1	32587172	0.986000	0.35501	0.977000	0.42913	0.788000	0.44548	3.183000	0.50918	2.553000	0.86117	0.561000	0.74099	TCG	DYNC1LI1	-	NULL		0.677	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	G	NM_016141		32612168	-1	no_errors	ENST00000273130	ensembl	human	known	70_37	missense	SNP	0.921	A	A	32612168	G	A	32612168	3	1	117	1	0	0	0	0	1	0	0	0	4854	1059	37	1	1528	1	DYNC1LI1	3	32612168	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	15198543	32612168	165410262	228	17696										
ARPP21	10777	genome.wustl.edu	37	chr3	35750512	35750512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacgaagtaaatcaattgaaGagagagaagaggaatatcag	12	3	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:35750512G>C	ENST00000187397.4	+	11	1303	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	283	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCAATTGAAGAGAGAGAAGA	0.398																																																	0													161	159	160					3																	35750512		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.847G>C	3.37:g.35750512G>C	ENSP00000187397:p.Glu283Gln		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E283Q	ENST00000187397.4	37	c.847	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951560	0.92660	.	.	ENSG00000172995	ENST00000187397	T	0.68624	-0.34	6.03	6.03	0.97812	SUZ domain (1);	0.156129	0.40554	N	0.001071	D	0.83487	0.5265	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82926	-0.0215	10	0.56958	D	0.05	.	20.62	0.99473	0.0:0.0:1.0:0.0	.	283	Q9UBL0	ARP21_HUMAN	Q	283	ENSP00000187397:E283Q	ENSP00000187397:E283Q	E	+	1	0	ARPP21	35725516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.755000	0.91646	2.876000	0.98609	0.644000	0.83932	GAG	ARPP21	-	NULL		0.398	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35750512	1	no_errors	ENST00000187397	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35750512	G	C	35750512	3	2	117	1	0	0	0	0	1	0	0	0	979	943	33	1	894	1	ARPP21	3	35750512	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3138344	35750512	162271918	229	17697										
TRANK1	9881	genome.wustl.edu	37	chr3	36893237	36893237	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcagtaaaaaagttgtaaagGaggacatcatcaaattctaa	7	5	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:36893237G>C	ENST00000429976.2	-	14	4975	c.4728C>G	c.(4726-4728)ctC>ctG	p.L1576L	TRANK1_ENST00000463984.1_5'Flank|TRANK1_ENST00000301807.6_Silent_p.L1026L|TRANK1_ENST00000428977.2_Silent_p.L1026L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1576							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTGTAAAGGAGGACATCAT	0.383																																																	0													73	72	72					3																	36893237		1845	4084	5929	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4728C>G	3.37:g.36893237G>C			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L1576	ENST00000429976.2	37	c.4728	CCDS46789.2	3																																																																																			TRANK1	-	NULL		0.383	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36893237	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	silent	SNP	1.000	C	C	36893237	G	C	36893237	2	2	117	1	0	0	0	0	0	0	0	1	16485	1161	41	1		1	TRANK1	3	36893237	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1142725	36893237	161129193	230	17698										
VILL	50853	genome.wustl.edu	37	chr3	38047732	38047732	+	Missense_Mutation	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagcagcatcaaccatctctGagataacagcagtgagtcct							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38047732G>A	ENST00000283713.6	+	18	2460	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	VILL_ENST00000383759.2_Missense_Mutation_p.E732K|VILL_ENST00000465644.1_Missense_Mutation_p.E450K			O15195	VILL_HUMAN	villin-like	732					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACCATCTCTGAGATAACAGC	0.627																																																	0													74	82	79					3																	38047732		2203	4300	6503	SO:0001583	missense	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2194G>A	3.37:g.38047732G>A	ENSP00000283713:p.Glu732Lys		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E732K	ENST00000283713.6	37	c.2194	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559721	0.45590	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.13901	2.64;2.64;2.55	3.56	2.62	0.31277	.	0.784016	0.12040	N	0.505138	T	0.13200	0.0320	L	0.55103	1.725	0.35425	D	0.793551	B	0.09022	0.002	B	0.10450	0.005	T	0.08764	-1.0706	10	0.25751	T	0.34	-16.5941	7.5437	0.27753	0.1349:0.0:0.8651:0.0	.	732	O15195	VILL_HUMAN	K	732;732;718;450	ENSP00000283713:E732K;ENSP00000373266:E732K;ENSP00000422096:E450K	ENSP00000283713:E732K	E	+	1	0	VILL	38022736	0.001000	0.12720	0.029000	0.17559	0.280000	0.26924	0.641000	0.24720	0.811000	0.34303	0.462000	0.41574	GAG	VILL	-	NULL		0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	G	NM_015873		38047732	1	no_errors	ENST00000283713	ensembl	human	known	70_37	missense	SNP	0.953	A	A	38047732	G	A	38047732	3	1	117	1	0	0	0	0	1	0	0	0	17196	1291	45	1	2260	1	VILL	3	38047732	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1154495	38047732	159974698	231	17699	97	2								
VILL	50853	genome.wustl.edu	37	chr3	38047734	38047734	+	Silent	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcagcatcaaccatctctgaGataacagcagtgagtcctgg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38047734G>A	ENST00000283713.6	+	18	2462	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	VILL_ENST00000383759.2_Silent_p.E732E|VILL_ENST00000465644.1_Silent_p.E450E			O15195	VILL_HUMAN	villin-like	732					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCATCTCTGAGATAACAGCAG	0.622																																																	0													73	81	78					3																	38047734		2203	4300	6503	SO:0001819	synonymous_variant	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2196G>A	3.37:g.38047734G>A			A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E732	ENST00000283713.6	37	c.2196	CCDS2670.2	3																																																																																			VILL	-	NULL		0.622	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	G	NM_015873		38047734	1	no_errors	ENST00000283713	ensembl	human	known	70_37	silent	SNP	0.934	A	A	38047734	G	A	38047734	2	1	117	1	0	0	0	0	0	0	0	1	17196	933	33	1		1	VILL	3	38047734	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2	38047734	159974696	232	17700	97	2								
PLCD1	5333	genome.wustl.edu	37	chr3	38049823	38049823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccacaattgaattcttattCttgttgacttttggcagctg	7	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38049823C>T	ENST00000334661.4	-	13	2160	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.K667K	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	646	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATTCTTATTCTTGTTGACTT	0.552																																																	0													74	78	77					3																	38049823		2203	4300	6503	SO:0001819	synonymous_variant	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1938G>A	3.37:g.38049823C>T			B3KR14|Q86VN8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K667	ENST00000334661.4	37	c.2001	CCDS2671.1	3																																																																																			PLCD1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.552	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	C			38049823	-1	no_errors	ENST00000463876	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38049823	C	T	38049823	2	4	117	1	0	0	0	0	0	0	0	1	12055	912	32	1		1	PLCD1	3	38049823	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2089	38049823	159972607	233	17701										
DLEC1	9940	genome.wustl.edu	37	chr3	38159078	38159078	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtgccaggccagtgacctCattcccgagcagccctgctc	10	17	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38159078C>T	ENST00000308059.6	+	32	4482	c.4461C>T	c.(4459-4461)ctC>ctT	p.L1487L	DLEC1_ENST00000346219.3_Silent_p.L1487L|DLEC1_ENST00000452631.2_Silent_p.L1490L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGTGACCTCATTCCCGAGC	0.617											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	73	70					3																	38159078		2052	4190	6242	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4461C>T	3.37:g.38159078C>T		876		Silent	SNP	superfamily_PapD-like	p.L1487	ENST00000308059.6	37	c.4461	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38159078	1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	0.998	T	T	38159078	C	T	38159078	2	4	117	1	0	0	0	0	0	0	0	1	4562	813	29	1		1	DLEC1	3	38159078	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	109255	38159078	159863352	234	17702										
EXOG	9941	genome.wustl.edu	37	chr3	38565708	38565708	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaagattgaaggagcccgatCagtgctcagactggaaaaga	12	7	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38565708C>G	ENST00000287675.5	+	6	1058	c.962C>G	c.(961-963)tCa>tGa	p.S321*	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Nonsense_Mutation_p.S271*	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	321					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGAGCCCGATCAGTGCTCAGA	0.428																																																	0													90	95	93					3																	38565708		2203	4300	6503	SO:0001587	stop_gained	9941			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.962C>G	3.37:g.38565708C>G	ENSP00000287675:p.Ser321*		A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Nonsense_Mutation	SNP	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	p.S321*	ENST00000287675.5	37	c.962	CCDS2680.1	3	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374901	0.61735	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	.	.	.	5.54	5.54	0.83059	.	0.335683	0.26723	N	0.022826	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4963	14.5085	0.67769	0.1465:0.8535:0.0:0.0	.	.	.	.	X	321;271	.	ENSP00000287675:S321X	S	+	2	0	EXOG	38540712	0.933000	0.31639	0.178000	0.23040	0.988000	0.76386	4.062000	0.57492	2.884000	0.98904	0.655000	0.94253	TCA	EXOG	-	NULL		0.428	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOG	HGNC	protein_coding	OTTHUMT00000254063.2	C	NM_005107		38565708	1	no_errors	ENST00000287675	ensembl	human	known	70_37	nonsense	SNP	0.368	G	G	38565708	C	G	38565708	4	3	117	1	0	0	0	0	0	1	0	0	5324	838	29	1	984	1	EXOG	3	38565708	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	406630	38565708	159456722	235	17703										
XIRP1	165904	genome.wustl.edu	37	chr3	39229161	39229161	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgaacaaccaccggatggtCtgcacatcgccctttggggg	12	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:39229161C>T	ENST00000340369.3	-	2	2004	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	XIRP1_ENST00000396251.1_Silent_p.Q592Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	592	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACCGGATGGTCTGCACATCGC	0.582																																																	0													74	63	67					3																	39229161		2203	4300	6503	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1776G>A	3.37:g.39229161C>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.Q592	ENST00000340369.3	37	c.1776	CCDS2683.1	3																																																																																			XIRP1	-	pfam_Actin-binding_Xin_repeat		0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39229161	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	silent	SNP	0.998	T	T	39229161	C	T	39229161	2	4	117	1	0	0	0	0	0	0	0	1	17460	912	32	1		1	XIRP1	3	39229161	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	663453	39229161	158793269	236	17704										
ZNF620	253639	genome.wustl.edu	37	chr3	40557890	40557890	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttcagacacagccttgattCagcatcagagaatccacact	7	12	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:40557890C>T	ENST00000314529.6	+	5	954	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	ZNF620_ENST00000418905.1_Nonsense_Mutation_p.Q155*	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGCCTTGATTCAGCATCAGAG	0.428																																																	0													62	65	64					3																	40557890		2203	4300	6503	SO:0001587	stop_gained	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"Zinc fingers, C2H2-type", "-"	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.805C>T	3.37:g.40557890C>T	ENSP00000322265:p.Gln269*		Q8N223	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q269*	ENST00000314529.6	37	c.805	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437959	0.25900	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	.	.	.	2.83	-0.627	0.11541	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4006	0.16293	0.3606:0.2837:0.3556:0.0	.	.	.	.	X	269;155	.	.	Q	+	1	0	ZNF620	40532894	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-7.644000	0.00032	0.063000	0.16370	-0.293000	0.09583	CAG	ZNF620	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	C	XM_171060		40557890	1	no_errors	ENST00000314529	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	40557890	C	T	40557890	4	4	117	1	0	0	0	0	0	1	0	0	18074	827	29	1	819	1	ZNF620	3	40557890	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1328729	40557890	157464540	237	17705										
ANO10	55129	genome.wustl.edu	37	chr3	43640123	43640123	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcatgtttgataatgaattGacattctgccattgtcagga	8	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:43640123G>C	ENST00000292246.3	-	4	543	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	ANO10_ENST00000414522.2_Missense_Mutation_p.Q125E|ANO10_ENST00000396091.3_Missense_Mutation_p.Q59E|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.Q125E	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAATGAATTGACATTCTGCC	0.299																																																	0													113	107	109					3																	43640123		2202	4296	6498	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.373C>G	3.37:g.43640123G>C	ENSP00000292246:p.Gln125Glu		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.Q125E	ENST00000292246.3	37	c.373	CCDS2710.2	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583129	0.86748	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;D;D;D	0.85629	0.18;-0.87;0.25;0.2;2.01;-2.01;-2.01;-2.01	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.76494	0.995;0.99;0.999;0.995	D;D;D;D	0.78314	0.953;0.979;0.991;0.953	D	0.87977	0.2740	10	0.10377	T	0.69	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	125;125;59;125	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	E	125;125;59;125;125;125;125;125;125	ENSP00000292246:Q125E;ENSP00000327767:Q125E;ENSP00000379398:Q59E;ENSP00000396990:Q125E;ENSP00000406432:Q125E;ENSP00000402845:Q125E;ENSP00000399103:Q125E;ENSP00000397360:Q125E	ENSP00000292246:Q125E	Q	-	1	0	ANO10	43615127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.655000	0.91098	2.780000	0.95670	0.655000	0.94253	CAA	ANO10	-	NULL		0.299	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	G	NM_018075		43640123	-1	no_errors	ENST00000292246	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43640123	G	C	43640123	3	2	117	1	0	0	0	0	1	0	0	0	696	1299	45	1	1649	1	ANO10	3	43640123	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3082233	43640123	154382307	238	17706										
ZNF197	10168	genome.wustl.edu	37	chr3	44683467	44683467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagagcagactctcataaagGaacatcaaaaagacttcaag	7	8	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:44683467G>C	ENST00000396058.1	+	5	1012	c.845G>C	c.(844-846)gGa>gCa	p.G282A	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.G282A			O14709	ZN197_HUMAN	zinc finger protein 197	282	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCTCATAAAGGAACATCAAAA	0.413																																																	0													54	50	51					3																	44683467		2203	4300	6503	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.845G>C	3.37:g.44683467G>C	ENSP00000379370:p.Gly282Ala		B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G282A	ENST00000396058.1	37	c.845	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425764	0.25639	.	.	ENSG00000186448	ENST00000536299;ENST00000344387;ENST00000396058	T;T	0.05855	3.38;3.38	4.4	3.45	0.39498	Krueppel-associated box (1);	0.000000	0.33834	N	0.004511	T	0.02610	0.0079	N	0.14661	0.345	0.25694	N	0.98565	P	0.41393	0.748	B	0.31812	0.136	T	0.41342	-0.9514	10	0.07175	T	0.84	.	9.7435	0.40433	0.0:0.2106:0.7893:0.0	.	282	O14709	ZN197_HUMAN	A	282	ENSP00000345809:G282A;ENSP00000379370:G282A	ENSP00000345809:G282A	G	+	2	0	ZNF197	44658471	0.000000	0.05858	0.977000	0.42913	0.975000	0.68041	-0.439000	0.06897	2.438000	0.82558	0.557000	0.71058	GGA	ZNF197	-	pfscan_Krueppel-associated_box		0.413	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	G	NM_006991		44683467	1	no_errors	ENST00000344387	ensembl	human	known	70_37	missense	SNP	0.974	C	C	44683467	G	C	44683467	3	2	117	1	0	0	0	0	1	0	0	0	17789	1174	41	1	863	1	ZNF197	3	44683467	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1043344	44683467	153338963	239	17707										
ZNF197	10168	genome.wustl.edu	37	chr3	44683559	44683559	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggcaagtcagtggggaaatGaaacagatgaaagggcagat	15	4	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:44683559G>A	ENST00000396058.1	+	5	1104	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.E313K			O14709	ZN197_HUMAN	zinc finger protein 197	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTGGGGAAATGAAACAGATGA	0.423																																																	0													69	68	68					3																	44683559		2203	4300	6503	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.937G>A	3.37:g.44683559G>A	ENSP00000379370:p.Glu313Lys		B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E313K	ENST00000396058.1	37	c.937	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123348	0.06795	.	.	ENSG00000186448	ENST00000536299;ENST00000344387;ENST00000396058	T;T	0.06218	3.33;3.33	3.71	2.83	0.33086	.	0.561893	0.13676	N	0.370526	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46748	-0.9169	10	0.05959	T	0.93	.	2.7462	0.05268	0.1037:0.1785:0.5342:0.1836	.	313	O14709	ZN197_HUMAN	K	313	ENSP00000345809:E313K;ENSP00000379370:E313K	ENSP00000345809:E313K	E	+	1	0	ZNF197	44658563	0.027000	0.19231	0.156000	0.22583	0.580000	0.36256	1.317000	0.33631	1.143000	0.42306	0.455000	0.32223	GAA	ZNF197	-	NULL		0.423	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	G	NM_006991		44683559	1	no_errors	ENST00000344387	ensembl	human	known	70_37	missense	SNP	0.007	A	A	44683559	G	A	44683559	3	1	117	1	0	0	0	0	1	0	0	0	17789	1291	45	1	955	1	ZNF197	3	44683559	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	92	44683559	153338871	240	17708										
TGM4	7047	genome.wustl.edu	37	chr3	44935068	44935068	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatgtgtggtcttgcttcaGaggacatggttttcatgcct	13	7	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:44935068G>C	ENST00000296125.4	+	5	498		c.e5-1			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTTGCTTCAGAGGACATGGT	0.522																																																	0													104	94	97					3																	44935068		2203	4300	6503	SO:0001630	splice_region_variant	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.431-1G>C	3.37:g.44935068G>C			Q16707|Q96QN4	Splice_Site	SNP	-	e5-1	ENST00000296125.4	37	c.431-1	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932880	0.73442	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.435	0.55595	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44910072	1.000000	0.71417	0.827000	0.32855	0.780000	0.44128	7.000000	0.76290	1.094000	0.41399	0.467000	0.42956	.	TGM4	-	-		0.522	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	G	NM_003241	Intron	44935068	1	no_errors	ENST00000296125	ensembl	human	known	70_37	splice_site	SNP	0.999	C	C	44935068	G	C	44935068	5	2	117	1	0	0	0	0	0	0	1	0	15862	956	33	1	448	1	TGM4	3	44935068	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	251509	44935068	153087362	241	17709										
FYCO1	79443	genome.wustl.edu	37	chr3	46008989	46008989	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgttggcctgccggagctCttcctcctggctgccctctt	10	17	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:46008989C>T	ENST00000296137.2	-	8	2042	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E613K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	613					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCCGGAGCTCTTCCTCCTGG	0.622																																																	0													75	83	81					3																	46008989		2202	4300	6502	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1837G>A	3.37:g.46008989C>T	ENSP00000296137:p.Glu613Lys		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E613K	ENST00000296137.2	37	c.1837	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.643764	0.00792	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.17528	2.27;2.28	5.62	-5.39	0.02664	.	0.820159	0.11679	N	0.540039	T	0.03959	0.0111	N	0.02391	-0.57	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38520	-0.9657	10	0.02654	T	1	-0.8909	6.9154	0.24357	0.0:0.1547:0.3461:0.4992	.	613;613	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	613	ENSP00000296137:E613K;ENSP00000441178:E613K	ENSP00000296137:E613K	E	-	1	0	FYCO1	45983993	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.318000	0.08050	-0.991000	0.03476	0.655000	0.94253	GAG	FYCO1	-	NULL		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46008989	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.003	T	T	46008989	C	T	46008989	3	4	117	1	0	0	0	0	1	0	0	0	6143	922	32	1	2643	1	FYCO1	3	46008989	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1073921	46008989	152013441	242	17710										
SETD2	29072	genome.wustl.edu	37	chr3	47162374	47162374	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtttctgagctcttctgatGagtgcaagccatccacatgt	9	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:47162374G>A	ENST00000409792.3	-	3	3794	c.3752C>T	c.(3751-3753)tCa>tTa	p.S1251L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1251					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCTTCTGATGAGTGCAAGCC	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													107	107	107					3																	47162374		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3752C>T	3.37:g.47162374G>A	ENSP00000386759:p.Ser1251Leu		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1251L	ENST00000409792.3	37	c.3752	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511656	0.64522	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.28	5.28	5.28	0.74379	.	0.138671	0.33438	N	0.004912	D	0.90487	0.7020	L	0.27053	0.805	0.48452	D	0.999656	D;D	0.71674	0.998;0.998	D;D	0.63381	0.914;0.914	D	0.91687	0.5363	10	0.87932	D	0	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	1251;1251	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1251;1251;1251;1207	ENSP00000386759:S1251L;ENSP00000416401:S1207L	ENSP00000386759:S1251L	S	-	2	0	SETD2	47137378	0.950000	0.32346	0.999000	0.59377	0.936000	0.57629	3.374000	0.52402	2.756000	0.94617	0.655000	0.94253	TCA	SETD2	-	NULL		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47162374	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.995	A	A	47162374	G	A	47162374	3	1	117	1	0	0	0	0	1	0	0	0	14161	1294	45	1	4018	1	SETD2	3	47162374	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1153385	47162374	150860056	243	17711										
CSPG5	10675	genome.wustl.edu	37	chr3	47618348	47618349	+	Missense_Mutation	DNP	CC	CC	AT													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaggcccctatgttctccaCcaggtagcactggccgccat							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:47618348_47618349CC>AT	ENST00000383738.2	-	2	3265_3266	c.1167_1168GG>AT	c.(1165-1170)ctGGtg>ctATtg	p.V390L	CSPG5_ENST00000456150.1_Missense_Mutation_p.V252L|CSPG5_ENST00000264723.4_Missense_Mutation_p.V390L|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	390	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGTTCTCCACCAGGTAGCACT	0.589																																																	0																																										SO:0001583	missense	10675			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1167_1168delinsAT	3.37:g.47618348_47618349delinsAT	ENSP00000373244:p.Val390Leu		Q71M39|Q71M40	Missense_Mutation|Silent	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.V390L|p.L389	ENST00000383738.2	37	c.1168|c.1167	CCDS56253.1	3																																																																																			CSPG5	-	NULL		0.589	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	C	NM_006574		47618348|47618349	-1	no_errors	ENST00000383738	ensembl	human	known	70_37	missense|silent	SNP	1.000	A|T	AT	47618349	CC	AT	47618348	3	1	117	1	0	0	0	0	1	0	0	0	3966	507	18	4	467	4	CSPG5	3	47618348	Missense_Mutation	DNP	CC	TCGA-EK-A3GK-01A-11D-A20U-09	455974	47618348	150404082	244	17712										
COL7A1	1294	genome.wustl.edu	37	chr3	48619011	48619011	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccacattgattcacccggtCtccagggtctcccttggggc	10	16	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:48619011C>G	ENST00000328333.8	-	49	4884	c.4777G>C	c.(4777-4779)Gac>Cac	p.D1593H	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.D1593H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1593	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCCGGTCTCCAGGGTCT	0.592																																																	0													100	105	104					3																	48619011		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4777G>C	3.37:g.48619011C>G	ENSP00000332371:p.Asp1593His		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1593H	ENST00000328333.8	37	c.4777	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229977	0.39399	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96300	-3.97;-3.97	5.25	5.25	0.73442	.	0.128435	0.34245	N	0.004123	D	0.97548	0.9197	M	0.70275	2.135	0.39788	D	0.97239	D	0.76494	0.999	D	0.76071	0.987	D	0.97249	0.9896	10	0.27785	T	0.31	.	16.0038	0.80344	0.0:1.0:0.0:0.0	.	1593	Q02388	CO7A1_HUMAN	H	1593	ENSP00000332371:D1593H;ENSP00000412569:D1593H	ENSP00000332371:D1593H	D	-	1	0	COL7A1	48594015	0.965000	0.33210	0.940000	0.37924	0.385000	0.30292	2.041000	0.41213	2.444000	0.82710	0.643000	0.83706	GAC	COL7A1	-	NULL		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	C	NM_000094		48619011	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.986	G	G	48619011	C	G	48619011	3	3	117	1	0	0	0	0	1	0	0	0	3709	913	32	1	4337	1	COL7A1	3	48619011	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1000663	48619011	149403419	245	17713										
UQCRC1	7384	genome.wustl.edu	37	chr3	48643248	48643248	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagcctgccccattattcttCtcagtctcaaaacggctgcc	6	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:48643248C>T	ENST00000203407.5	-	3	668	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	84					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATTATTCTTCTCAGTCTCAA	0.517																																					NSCLC(81;1112 1427 27031 32409 45529)												0													141	135	137					3																	48643248		2203	4300	6503	SO:0001819	synonymous_variant	7384			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.252G>A	3.37:g.48643248C>T			B2R7R8|Q96DD2	Missense_Mutation	SNP	NULL	p.R39K	ENST00000203407.5	37	c.116	CCDS2774.1	3																																																																																			UQCRC1	-	NULL		0.517	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC1	HGNC	protein_coding	OTTHUMT00000257517.1	C	NM_003365		48643248	-1	no_errors	ENST00000415995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48643248	C	T	48643248	2	4	117	1	0	0	0	0	0	0	0	1	17050	912	32	1		1	UQCRC1	3	48643248	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	24237	48643248	149379182	246	17714										
WDR6	11180	genome.wustl.edu	37	chr3	49049208	49049208	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctaatggagaccttgacttgGaggccatggtggctgtgttt	14	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49049208G>C	ENST00000608424.1	+	2	280	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.E30Q|WDR6_ENST00000395474.3_Missense_Mutation_p.E111Q			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	81					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTTGACTTGGAGGCCATGGT	0.557																																																	0													169	169	169					3																	49049208		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.241G>C	3.37:g.49049208G>C	ENSP00000477389:p.Glu81Gln		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E111Q	ENST00000608424.1	37	c.331		3	.	.	.	.	.	.	.	.	.	.	G	7.512	0.654883	0.14580	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293;ENST00000419837	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.43	4.56	0.56223	.	0.516674	0.20436	N	0.092368	T	0.55465	0.1922	N	0.22421	0.69	0.25006	N	0.991436	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-23.4127	11.755	0.51870	0.0:0.2042:0.7958:0.0	.	81;30	Q9NNW5;E9PDU5	WDR6_HUMAN;.	Q	111;113;81;30;55	ENSP00000378857:E111Q;ENSP00000387692:E113Q;ENSP00000413432:E30Q;ENSP00000390740:E55Q	ENSP00000346247:E81Q	E	+	1	0	WDR6	49024212	0.952000	0.32445	0.844000	0.33320	0.379000	0.30106	1.711000	0.37930	1.278000	0.44430	0.561000	0.74099	GAG	WDR6	-	NULL		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049208	1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.759	C	C	49049208	G	C	49049208	3	2	117	1	0	0	0	0	1	0	0	0	17341	1175	41	1	337	1	WDR6	3	49049208	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	405960	49049208	148973222	247	17715										
USP19	10869	genome.wustl.edu	37	chr3	49147892	49147892	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcacccacgtcactgcgctGactgctacgatcattgggca	9	15	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49147892G>C	ENST00000398888.2	-	24	3853	c.3535C>G	c.(3535-3537)Cag>Gag	p.Q1179E	USP19_ENST00000434032.2_Missense_Mutation_p.Q1280E|USP19_ENST00000398898.2_Missense_Mutation_p.Q1219E|USP19_ENST00000398896.1_Missense_Mutation_p.Q987E|USP19_ENST00000453664.1_Missense_Mutation_p.Q1270E|USP19_ENST00000417901.1_Missense_Mutation_p.Q1282E|USP19_ENST00000398892.3_Missense_Mutation_p.Q1219E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1179	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACTGCGCTGACTGCTACGA	0.572																																																	0													82	82	82					3																	49147892		2190	4283	6473	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3535C>G	3.37:g.49147892G>C	ENSP00000381863:p.Gln1179Glu		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.Q1179E	ENST00000398888.2	37	c.3535	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120887	0.77436	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.37	5.37	0.77165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.994;0.985;0.961	D;D;D;D;P	0.80764	0.994;0.991;0.971;0.981;0.76	T	0.47235	-0.9133	10	0.66056	D	0.02	-21.7155	19.4662	0.94943	0.0:0.0:1.0:0.0	.	1280;1270;1179;1219;987	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	E	987;1219;1282;1270;1219;1179;1280	ENSP00000381870:Q987E;ENSP00000381872:Q1219E;ENSP00000395260:Q1282E;ENSP00000400090:Q1270E;ENSP00000381867:Q1219E;ENSP00000381863:Q1179E;ENSP00000401197:Q1280E	ENSP00000381863:Q1179E	Q	-	1	0	USP19	49122896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.629000	0.98417	2.666000	0.90696	0.561000	0.74099	CAG	USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.572	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	G	NM_006677		49147892	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49147892	G	C	49147892	3	2	117	1	0	0	0	0	1	0	0	0	17081	1299	45	1	433	1	USP19	3	49147892	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	98684	49147892	148874538	248	17716										
USP19	10869	genome.wustl.edu	37	chr3	49151464	49151464	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaggcttcacatgaacactCtgagagagggagtccaatac	10	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49151464C>G	ENST00000398888.2	-	16	2475	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	USP19_ENST00000434032.2_Missense_Mutation_p.Q820H|USP19_ENST00000398898.2_Missense_Mutation_p.Q759H|USP19_ENST00000398896.1_Missense_Mutation_p.Q527H|USP19_ENST00000453664.1_Missense_Mutation_p.Q810H|USP19_ENST00000417901.1_Missense_Mutation_p.Q822H|USP19_ENST00000398892.3_Missense_Mutation_p.Q759H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	719	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATGAACACTCTGAGAGAGGG	0.537																																																	0													104	107	106					3																	49151464		2019	4164	6183	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2157G>C	3.37:g.49151464C>G	ENSP00000381863:p.Gln719His		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.Q719H	ENST00000398888.2	37	c.2157	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	5.399	0.258769	0.10239	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.19669	2.13;2.14;2.24;2.24;2.14;2.23;2.24	6.17	3.23	0.37069	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.751020	0.02608	N	0.101785	T	0.19604	0.0471	L	0.34521	1.04	0.36596	D	0.874385	B;B;B;B;B	0.12013	0.005;0.002;0.003;0.001;0.0	B;B;B;B;B	0.11329	0.006;0.003;0.002;0.003;0.001	T	0.16394	-1.0404	10	0.44086	T	0.13	-13.1273	6.9436	0.24506	0.0948:0.6325:0.1445:0.1282	.	820;810;719;759;527	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	527;759;822;810;759;719;820	ENSP00000381870:Q527H;ENSP00000381872:Q759H;ENSP00000395260:Q822H;ENSP00000400090:Q810H;ENSP00000381867:Q759H;ENSP00000381863:Q719H;ENSP00000401197:Q820H	ENSP00000381863:Q719H	Q	-	3	2	USP19	49126468	0.999000	0.42202	0.999000	0.59377	0.175000	0.22909	0.674000	0.25218	0.953000	0.37825	-0.797000	0.03246	CAG	USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.537	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49151464	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49151464	C	G	49151464	3	3	117	1	0	0	0	0	1	0	0	0	17081	912	32	1	1843	1	USP19	3	49151464	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3572	49151464	148870966	249	17717										
BSN	8927	genome.wustl.edu	37	chr3	49695041	49695041	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgaccagctgcccagggtCtctccagccatccacatcac	7	19	2	1	rs557287227		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49695041C>G	ENST00000296452.4	+	5	8166	c.8052C>G	c.(8050-8052)gtC>gtG	p.V2684V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2684					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCCCAGGGTCTCTCCAGCCA	0.627																																																	0													41	43	42					3																	49695041		2203	4297	6500	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8052C>G	3.37:g.49695041C>G			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.V2684	ENST00000296452.4	37	c.8052	CCDS2800.1	3																																																																																			BSN	-	NULL		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49695041	1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49695041	C	G	49695041	2	3	117	1	0	0	0	0	0	0	0	1	1533	900	32	1		1	BSN	3	49695041	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	543577	49695041	148327389	250	17718										
BSN	8927	genome.wustl.edu	37	chr3	49701229	49701229	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtgttgcagccacgggcaGaacagacaaatggctctaaa	11	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49701229G>A	ENST00000296452.4	+	8	11632	c.11518G>A	c.(11518-11520)Gaa>Aaa	p.E3840K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3840					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCACGGGCAGAACAGACAAA	0.567																																																	0													118	106	110					3																	49701229		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11518G>A	3.37:g.49701229G>A	ENSP00000296452:p.Glu3840Lys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E3840K	ENST00000296452.4	37	c.11518	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076752	0.36662	.	.	ENSG00000164061	ENST00000296452	T	0.17854	2.25	4.81	4.81	0.61882	.	0.217794	0.36893	N	0.002353	T	0.14960	0.0361	L	0.47716	1.5	0.33955	D	0.644868	B	0.27498	0.18	B	0.24701	0.055	T	0.12578	-1.0542	10	0.36615	T	0.2	-7.5013	9.2054	0.37287	0.1:0.0:0.9:0.0	.	3840	Q9UPA5	BSN_HUMAN	K	3840	ENSP00000296452:E3840K	ENSP00000296452:E3840K	E	+	1	0	BSN	49676233	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	3.556000	0.53734	2.222000	0.72286	0.462000	0.41574	GAA	BSN	-	NULL		0.567	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49701229	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.954	A	A	49701229	G	A	49701229	3	1	117	1	0	0	0	0	1	0	0	0	1533	943	33	1	11548	1	BSN	3	49701229	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6188	49701229	148321201	251	17719										
MST1	327	genome.wustl.edu	37	chr3	49723520	49723520	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggccgcacgtcgtctgtacaAcgccggatctggtagcaaaa	12	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49723520A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Silent_p.R374R|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTCTGTACAACGCCGGATCT	0.692																																																	0													12	14	13					3																	49723520		2192	4284	6476	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723520A>G			Q9BQ33|Q9P0Y2	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R374	ENST00000296456.5	37	c.1122	CCDS2801.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.692	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	A			49723520	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49723520	A	G	49723520	1	3	117	0	1	0	0	0	0	0	0	0	9913	30	2	5		5	MST1	3	49723520	IGR	SNP	A	TCGA-EK-A3GK-01A-11D-A20U-09	22291	49723520	148298910	252	17720										
HYAL2	8692	genome.wustl.edu	37	chr3	50357191	50357191	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgggaagagggccgtgctctCagcccacagccaggccagct	14	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:50357191C>T	ENST00000447092.1	-	1	3022	c.730G>A	c.(730-732)Gag>Aag	p.E244K	HYAL2_ENST00000395139.3_Missense_Mutation_p.E244K|HYAL2_ENST00000357750.4_Missense_Mutation_p.E244K|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Missense_Mutation_p.E244K			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	244					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCGTGCTCTCAGCCCACAGC	0.597																																																	0													57	58	58					3																	50357191		2203	4300	6503	SO:0001583	missense	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.730G>A	3.37:g.50357191C>T	ENSP00000401853:p.Glu244Lys		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.E244K	ENST00000447092.1	37	c.730	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687716	0.29962	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.93	4.1	0.47936	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	L	0.39397	1.21	0.58432	D	0.999996	B;B	0.17852	0.024;0.008	B;B	0.33846	0.152;0.171	T	0.05716	-1.0868	10	0.26408	T	0.33	-30.4833	11.0953	0.48141	0.0:0.8015:0.128:0.0705	.	244;244	B3KRZ2;Q12891	.;HYAL2_HUMAN	K	244	ENSP00000401853:E244K;ENSP00000350387:E244K;ENSP00000378571:E244K;ENSP00000406657:E244K	ENSP00000350387:E244K	E	-	1	0	HYAL2	50332195	1.000000	0.71417	0.913000	0.36048	0.001000	0.01503	4.909000	0.63314	1.521000	0.48983	-0.252000	0.11476	GAG	HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	C	NM_003773		50357191	-1	no_errors	ENST00000357750	ensembl	human	known	70_37	missense	SNP	0.996	T	T	50357191	C	T	50357191	3	4	117	1	0	0	0	0	1	0	0	0	7484	835	29	1	703	1	HYAL2	3	50357191	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	633671	50357191	147665239	253	17721										
HEMK1	51409	genome.wustl.edu	37	chr3	50614558	50614558	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccccaggcagccccctcattCtggaggtgggctgcggatca	13	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:50614558C>G	ENST00000232854.4	+	5	1042	c.490C>G	c.(490-492)Ctg>Gtg	p.L164V	HEMK1_ENST00000434410.1_Missense_Mutation_p.L164V|HEMK1_ENST00000455834.1_Missense_Mutation_p.L164V	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	164					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CCCCCTCATTCTGGAGGTGGG	0.622																																																	0													63	67	66					3																	50614558		2203	4300	6503	SO:0001583	missense	51409			AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.490C>G	3.37:g.50614558C>G	ENSP00000232854:p.Leu164Val			Missense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	p.L164V	ENST00000232854.4	37	c.490	CCDS2830.1	3	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276507	0.59649	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834;ENST00000443894	T;T;T;T	0.72835	1.49;1.49;1.49;-0.69	5.06	2.32	0.28847	Methyltransferase small (1);	0.000000	0.64402	D	0.000001	T	0.77538	0.4145	M	0.64080	1.96	0.45946	D	0.99877	D	0.71674	0.998	D	0.79108	0.992	T	0.73319	-0.4020	10	0.45353	T	0.12	-10.0233	6.8521	0.24020	0.0:0.7146:0.0:0.2854	.	164	Q9Y5R4	HEMK1_HUMAN	V	164;164;164;2	ENSP00000404843:L164V;ENSP00000232854:L164V;ENSP00000404334:L164V;ENSP00000404168:L2V	ENSP00000232854:L164V	L	+	1	2	HEMK1	50589562	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.337000	0.33862	0.321000	0.23259	0.655000	0.94253	CTG	HEMK1	-	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK		0.622	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEMK1	HGNC	protein_coding	OTTHUMT00000346231.1	C	NM_016173		50614558	1	no_errors	ENST00000232854	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50614558	C	G	50614558	3	3	117	1	0	0	0	0	1	0	0	0	7071	912	32	1	504	1	HEMK1	3	50614558	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	257367	50614558	147407872	254	17722										
GRM2	2912	genome.wustl.edu	37	chr3	51751678	51751678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaccaccaccatgtgcgtgtCagtcagcctcagcggctccg	11	16	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:51751678C>T	ENST00000395052.3	+	5	2624	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.S519L	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	797					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCGTGTCAGTCAGCCTC	0.622																																																	0													59	52	55					3																	51751678		2203	4300	6503	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2390C>T	3.37:g.51751678C>T	ENSP00000378492:p.Ser797Leu		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.S797L	ENST00000395052.3	37	c.2390	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482516	0.84747	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.88509	-2.39;-2.39	5.01	5.01	0.66863	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	L	0.46947	1.48	0.46241	D	0.998947	P	0.50710	0.938	D	0.64237	0.923	D	0.88843	0.3314	10	0.23302	T	0.38	.	18.8163	0.92077	0.0:1.0:0.0:0.0	.	797	Q14416	GRM2_HUMAN	L	797;519	ENSP00000378492:S797L;ENSP00000408906:S519L	ENSP00000378492:S797L	S	+	2	0	GRM2	51726718	1.000000	0.71417	0.943000	0.38184	0.891000	0.51852	7.749000	0.85096	2.721000	0.93114	0.609000	0.83330	TCA	GRM2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	C			51751678	1	no_errors	ENST00000395052	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51751678	C	T	51751678	3	4	117	1	0	0	0	0	1	0	0	0	6817	838	29	1	2404	1	GRM2	3	51751678	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1137120	51751678	146270752	255	17723										
RRP9	9136	genome.wustl.edu	37	chr3	51967558	51967558	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggggtacagggaccctgcgGagtgggatgatgcagacaga	19	7	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:51967558G>T	ENST00000232888.6	-	15	1465	c.1392C>A	c.(1390-1392)ctC>ctA	p.L464L		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	464					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGACCCTGCGGAGTGGGATGA	0.557																																																	0													74	79	78					3																	51967558		2203	4300	6503	SO:0001819	synonymous_variant	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1392C>A	3.37:g.51967558G>T			B2R996|Q8IZ30	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L464	ENST00000232888.6	37	c.1392	CCDS2837.1	3																																																																																			RRP9	-	NULL		0.557	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	G	NM_004704		51967558	-1	no_errors	ENST00000232888	ensembl	human	known	70_37	silent	SNP	0.990	T	T	51967558	G	T	51967558	2	4	117	1	0	0	0	0	0	0	0	1	13721	1161	41	3		3	RRP9	3	51967558	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	215880	51967558	146054872	256	17724										
DNAH1	25981	genome.wustl.edu	37	chr3	52413996	52413996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accgactggtgaatgaggagGaccgcagctggttcgaccag	15	10	0	2	rs11543236		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:52413996G>A	ENST00000420323.2	+	48	7714	c.7453G>A	c.(7453-7455)Gac>Aac	p.D2485N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2485					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATGAGGAGGACCGCAGCTG	0.607																																																	0													50	58	55					3																	52413996		2122	4218	6340	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7453G>A	3.37:g.52413996G>A	ENSP00000401514:p.Asp2485Asn		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.D2485N	ENST00000420323.2	37	c.7453	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.837904	0.97009	.	.	ENSG00000114841	ENST00000420323	T	0.45276	0.9	5.4	5.4	0.78164	.	0.000000	0.51477	D	0.000100	T	0.75708	0.3886	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82398	-0.0477	10	0.87932	D	0	.	19.3589	0.94425	0.0:0.0:1.0:0.0	.	2485	C9JXH6	.	N	2485	ENSP00000401514:D2485N	ENSP00000401514:D2485N	D	+	1	0	DNAH1	52389036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.515000	0.98015	2.812000	0.96745	0.563000	0.77884	GAC	DNAH1	-	NULL		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52413996	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52413996	G	A	52413996	3	1	117	1	0	0	0	0	1	0	0	0	4607	1174	41	1	7639	1	DNAH1	3	52413996	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	446438	52413996	145608434	257	17725										
TKT	7086	genome.wustl.edu	37	chr3	53262157	53262157	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctggtcatccttgctcttCaggaccacctgggggtgaca	11	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:53262157C>G	ENST00000462138.1	-	12	1576	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.L504L|TKT_ENST00000423525.2_Silent_p.L496L|TKT_ENST00000296289.6_Silent_p.L449L			P29401	TKT_HUMAN	transketolase	496					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCTTGCTCTTCAGGACCACCT	0.647																																					Colon(133;1506 2347 35238 42177)												0													70	66	67					3																	53262157		2203	4300	6503	SO:0001819	synonymous_variant	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1488G>C	3.37:g.53262157C>G			A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.L496	ENST00000462138.1	37	c.1488	CCDS2871.1	3																																																																																			TKT	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.647	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	C			53262157	-1	no_errors	ENST00000423525	ensembl	human	known	70_37	silent	SNP	1.000	G	G	53262157	C	G	53262157	2	3	117	1	0	0	0	0	0	0	0	1	15964	813	29	1		1	TKT	3	53262157	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	848161	53262157	144760273	258	17726										
C3orf63	23272	genome.wustl.edu	37	chr3	56667358	56667358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttctacttcagttaaagccGaagtggaatgctgctcatca	8	9	4	0	rs554752879		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:56667358G>A	ENST00000493960.2	-	18	3471	c.3461C>T	c.(3460-3462)tCg>tTg	p.S1154L	FAM208A_ENST00000355628.5_Missense_Mutation_p.S1093L|FAM208A_ENST00000431842.2_Missense_Mutation_p.S717L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1154							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTTAAAGCCGAAGTGGAATG	0.433																																																	0													163	154	157					3																	56667358		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3461C>T	3.37:g.56667358G>A	ENSP00000417509:p.Ser1154Leu		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.S1093L	ENST00000493960.2	37	c.3278	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697474	0.68386	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12672	2.66;2.86;2.85	5.71	4.84	0.62591	.	0.245968	0.28332	N	0.015725	T	0.21550	0.0519	L	0.58101	1.795	0.24354	N	0.994905	D;D;D;D	0.64830	0.985;0.991;0.994;0.969	P;P;P;P	0.50405	0.593;0.585;0.64;0.465	T	0.08289	-1.0729	10	0.66056	D	0.02	-5.1741	10.568	0.45184	0.0689:0.0:0.798:0.1331	.	1154;1093;717;1154	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	L	717;1154;1093	ENSP00000399410:S717L;ENSP00000417509:S1154L;ENSP00000347845:S1093L	ENSP00000347845:S1093L	S	-	2	0	C3orf63	56642398	0.980000	0.34600	0.918000	0.36340	0.903000	0.53119	3.559000	0.53756	1.552000	0.49463	0.650000	0.86243	TCG	FAM208A	-	NULL		0.433	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	G	NM_015224		56667358	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	missense	SNP	0.868	A	A	56667358	G	A	56667358	3	1	117	1	0	0	0	0	1	0	0	0	2244	1059	37	1	1639	1	C3orf63	3	56667358	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3405201	56667358	141355072	259	17727										
DNAH12	201625	genome.wustl.edu	37	chr3	57443851	57443851	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagaaaagacgtttcttttCaagatatgcgttaagacctt	8	6	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:57443851C>A	ENST00000351747.2	-	21	3139	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	987	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGTTTCTTTTCAAGATATGCG	0.303																																																	0													124	107	112					3																	57443851		692	1591	2283	SO:0001587	stop_gained	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2959G>T	3.37:g.57443851C>A	ENSP00000295937:p.Glu987*		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E987*	ENST00000351747.2	37	c.2959		3	.	.	.	.	.	.	.	.	.	.	C	43	10.243678	0.99367	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	987;1010	.	ENSP00000295937:E987X	E	-	1	0	DNAH12	57418891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.759000	0.85235	2.785000	0.95823	0.655000	0.94253	GAA	DNAH12	-	pfam_Dynein_heavy_dom-2		0.303	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		C	NM_178504		57443851	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	57443851	C	A	57443851	4	1	117	1	0	0	0	0	0	1	0	0	4610	835	29	3	6475	3	DNAH12	3	57443851	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	776493	57443851	140578579	260	17728										
FAM116A	201627	genome.wustl.edu	37	chr3	57616535	57616535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attcttctggaagaaactgtCttaattgaggtggactctag	10	6	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:57616535C>G	ENST00000311128.5	-	17	1494	c.1424G>C	c.(1423-1425)aGa>aCa	p.R475T	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	475					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AAGAAACTGTCTTAATTGAGG	0.358																																																	0													77	76	76					3																	57616535		2203	4300	6503	SO:0001583	missense	201627			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1424G>C	3.37:g.57616535C>G	ENSP00000311401:p.Arg475Thr		Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	p.R475T	ENST00000311128.5	37	c.1424	CCDS33773.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.376106|2.376106	0.42105|0.42105	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.088385	.|0.85682	.|D	.|0.000000	T|T	0.52435|0.52435	0.1734|0.1734	M|M	0.62016|0.62016	1.91|1.91	0.43091|0.43091	D|D	0.994763|0.994763	.|P	.|0.41313	.|0.745	.|B	.|0.38985	.|0.287	T|T	0.50432|0.50432	-0.8829|-0.8829	5|9	.|0.24483	.|T	.|0.36	-20.1004|-20.1004	10.6777|10.6777	0.45796|0.45796	0.0:0.8587:0.0:0.1413|0.0:0.8587:0.0:0.1413	.|.	.|475	.|Q8IWF6	.|F116A_HUMAN	N|T	46|475	.|.	.|ENSP00000311401:R475T	K|R	-|-	3|2	2|0	FAM116A|FAM116A	57591575|57591575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.033000|3.033000	0.49743|0.49743	2.822000|2.822000	0.97130|0.97130	0.557000|0.557000	0.71058|0.71058	AAG|AGA	DENND6A	-	pfam_Afi1_N		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1	C	NM_152678		57616535	-1	no_errors	ENST00000311128	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57616535	C	G	57616535	3	3	117	1	0	0	0	0	1	0	0	0	5422	913	32	1	418	1	FAM116A	3	57616535	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	172684	57616535	140405895	261	17729										
FLNB	2317	genome.wustl.edu	37	chr3	58098016	58098016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgataattatgactactctCacacggttaaatatacaccc	4	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:58098016C>T	ENST00000295956.4	+	18	2881	c.2716C>T	c.(2716-2718)Cac>Tac	p.H906Y	FLNB_ENST00000348383.5_Missense_Mutation_p.H906Y|FLNB_ENST00000490882.1_Missense_Mutation_p.H906Y|FLNB_ENST00000429972.2_Missense_Mutation_p.H906Y|FLNB_ENST00000493452.1_Missense_Mutation_p.H737Y|FLNB_ENST00000419752.2_Missense_Mutation_p.H737Y|FLNB_ENST00000358537.3_Missense_Mutation_p.H906Y|FLNB_ENST00000357272.4_Missense_Mutation_p.H906Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	906					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGACTACTCTCACACGGTTAA	0.557																																																	0													99	97	97					3																	58098016		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2716C>T	3.37:g.58098016C>T	ENSP00000295956:p.His906Tyr		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.H906Y	ENST00000295956.4	37	c.2716	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755156	0.15846	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.089728	0.85682	D	0.000000	T	0.64571	0.2610	N	0.00966	-1.09	0.58432	D	0.999998	B;B;D;B;B;B	0.56287	0.013;0.001;0.975;0.001;0.016;0.08	B;B;P;B;B;B	0.59643	0.02;0.009;0.861;0.011;0.034;0.05	T	0.66221	-0.5978	10	0.02654	T	1	.	19.4806	0.95008	0.0:1.0:0.0:0.0	.	906;906;737;737;906;906	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	906;906;906;906;906;906;737;737	ENSP00000295956:H906Y;ENSP00000420213:H906Y;ENSP00000351339:H906Y;ENSP00000415599:H906Y;ENSP00000232447:H906Y;ENSP00000349819:H906Y;ENSP00000418510:H737Y;ENSP00000414532:H737Y	ENSP00000295956:H906Y	H	+	1	0	FLNB	58073056	0.995000	0.38212	0.997000	0.53966	0.957000	0.61999	3.276000	0.51646	2.622000	0.88805	0.650000	0.86243	CAC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58098016	1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58098016	C	T	58098016	3	4	117	1	0	0	0	0	1	0	0	0	5952	826	29	1	2786	1	FLNB	3	58098016	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	481481	58098016	139924414	262	17730										
ACOX2	8309	genome.wustl.edu	37	chr3	58508292	58508292	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtcagctccggattgcgtCagggtctgtaaatgctgcac	13	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:58508292C>G	ENST00000302819.5	-	12	1854	c.1563G>C	c.(1561-1563)ctG>ctC	p.L521L	ACOX2_ENST00000459701.2_Silent_p.L507L|ACOX2_ENST00000481527.1_5'UTR	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	521					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGGATTGCGTCAGGGTCTGTA	0.527																																																	0													135	117	123					3																	58508292		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1563G>C	3.37:g.58508292C>G			A6NF16|B2R8U5	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.L521	ENST00000302819.5	37	c.1563	CCDS33775.1	3																																																																																			ACOX2	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58508292	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	silent	SNP	0.952	G	G	58508292	C	G	58508292	2	3	117	1	0	0	0	0	0	0	0	1	159	813	29	1		1	ACOX2	3	58508292	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	410276	58508292	139514138	263	17731										
PTPRG	5793	genome.wustl.edu	37	chr3	62267354	62267354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctaatgaagaacaaattatCatccatgactttatccttga	4	8	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:62267354C>T	ENST00000474889.1	+	27	4259	c.3882C>T	c.(3880-3882)atC>atT	p.I1294I	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Silent_p.I1265I|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1294	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AACAAATTATCATCCATGACT	0.428																																																	0													154	139	144					3																	62267354		2203	4300	6503	SO:0001819	synonymous_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3882C>T	3.37:g.62267354C>T			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.I1294	ENST00000474889.1	37	c.3882	CCDS2895.1	3																																																																																			PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	C	NM_002841		62267354	1	no_errors	ENST00000474889	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62267354	C	T	62267354	2	4	117	1	0	0	0	0	0	0	0	1	12832	816	29	1		1	PTPRG	3	62267354	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3759062	62267354	135755076	264	17732										
CADPS	8618	genome.wustl.edu	37	chr3	62739410	62739410	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggcggaacagcctccactCtgaaccatgcgggccacacg	11	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:62739410C>G	ENST00000383710.4	-	3	943	c.594G>C	c.(592-594)caG>caC	p.Q198H	CADPS_ENST00000357948.3_Missense_Mutation_p.Q198H|CADPS_ENST00000490353.2_Missense_Mutation_p.Q198H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q198H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	198					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGCCTCCACTCTGAACCATGC	0.562																																																	0													40	35	37					3																	62739410		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.594G>C	3.37:g.62739410C>G	ENSP00000373215:p.Gln198His		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q198H	ENST00000383710.4	37	c.594	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563876	0.27915	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	L	0.35723	1.085	0.47905	D	0.999543	B;D;D	0.67145	0.016;0.988;0.996	B;D;D	0.75484	0.029;0.984;0.986	D	0.83676	0.0169	10	0.39692	T	0.17	.	10.3016	0.43656	0.0:0.8541:0.0:0.1459	.	198;198;198	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	H	198	ENSP00000373215:Q198H;ENSP00000350632:Q198H;ENSP00000283269:Q198H;ENSP00000418736:Q198H	ENSP00000283269:Q198H	Q	-	3	2	CADPS	62714450	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	1.709000	0.37909	2.707000	0.92482	0.655000	0.94253	CAG	CADPS	-	NULL		0.562	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62739410	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62739410	C	G	62739410	3	3	117	1	0	0	0	0	1	0	0	0	2575	912	32	1	3652	1	CADPS	3	62739410	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	472056	62739410	135283020	265	17733										
LRIG1	26018	genome.wustl.edu	37	chr3	66433434	66433434	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgacactgtactcttcactCttcttcctggtctggtagat	8	11	5	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:66433434C>G	ENST00000273261.3	-	15	2987	c.2463G>C	c.(2461-2463)aaG>aaC	p.K821N	LRIG1_ENST00000383703.3_Missense_Mutation_p.K798N|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	821					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTCTTCACTCTTCTTCCTGG	0.572																																																	0													107	80	89					3																	66433434		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2463G>C	3.37:g.66433434C>G	ENSP00000273261:p.Lys821Asn		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K821N	ENST00000273261.3	37	c.2463	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875478	0.51695	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.69040	-0.37;-0.37	5.88	4.1	0.47936	.	0.047591	0.85682	D	0.000000	T	0.66626	0.2808	M	0.74647	2.275	0.44745	D	0.997741	P;B;B	0.36378	0.55;0.065;0.284	B;B;B	0.37387	0.248;0.06;0.126	T	0.65631	-0.6121	10	0.42905	T	0.14	.	12.5404	0.56167	0.0:0.8655:0.0:0.1345	.	798;821;821	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	N	821;798;724	ENSP00000273261:K821N;ENSP00000373208:K798N	ENSP00000273261:K821N	K	-	3	2	LRIG1	66516124	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.693000	0.47027	0.825000	0.34637	0.655000	0.94253	AAG	LRIG1	-	NULL		0.572	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	C	NM_015541		66433434	-1	no_errors	ENST00000273261	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66433434	C	G	66433434	3	3	117	1	0	0	0	0	1	0	0	0	8967	912	32	1	838	1	LRIG1	3	66433434	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3694024	66433434	131588996	266	17734										
TMF1	7110	genome.wustl.edu	37	chr3	69075149	69075149	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaaaaataaaacatcacctGagacagaaaagatgtctgta	6	6	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:69075149G>C	ENST00000398559.2	-	14	3073	c.2857C>G	c.(2857-2859)Cag>Gag	p.Q953E	CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q956E|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	953					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AACATCACCTGAGACAGAAAA	0.373																																																	0													89	83	85					3																	69075149		1865	4101	5966	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2857C>G	3.37:g.69075149G>C	ENSP00000381567:p.Gln953Glu		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.Q956E	ENST00000398559.2	37	c.2866	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004806	0.35320	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.19394	2.15;2.16	5.04	5.04	0.67666	.	0.057025	0.64402	D	0.000001	T	0.31199	0.0789	L	0.36672	1.1	0.53688	D	0.999976	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.985	T	0.02269	-1.1185	10	0.02654	T	1	-8.7032	15.8174	0.78615	0.0:0.1359:0.8641:0.0	.	956;953	P82094-2;P82094	.;TMF1_HUMAN	E	953;956;869	ENSP00000381567:Q953E;ENSP00000438706:Q956E	ENSP00000348582:Q869E	Q	-	1	0	TMF1	69157839	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.905000	0.75714	2.495000	0.84180	0.585000	0.79938	CAG	TMF1	-	NULL		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	G	NM_007114		69075149	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69075149	G	C	69075149	3	2	117	1	0	0	0	0	1	0	0	0	16258	1299	45	1	440	1	TMF1	3	69075149	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2641715	69075149	128947281	267	17735										
EIF4E3	317649	genome.wustl.edu	37	chr3	71748779	71748779	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acttaccaaagtggtcgcctCtctcctctcattaaatgata	5	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:71748779C>G	ENST00000425534.3	-	3	337	c.330G>C	c.(328-330)gaG>gaC	p.E110D	EIF4E3_ENST00000421769.2_Missense_Mutation_p.E4D|EIF4E3_ENST00000448225.1_Missense_Mutation_p.E4D|EIF4E3_ENST00000295612.3_Missense_Mutation_p.E4D|EIF4E3_ENST00000389826.3_Missense_Mutation_p.E4D|EIF4E3_ENST00000468147.1_Intron	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	110					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		GTGGTCGCCTCTCTCCTCTCA	0.373																																																	0													174	173	173					3																	71748779		2203	4300	6503	SO:0001583	missense	317649			AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"eukaryotic translation initiation factor 4E member 3"			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.330G>C	3.37:g.71748779C>G	ENSP00000393324:p.Glu110Asp		B2R963|Q6NUT1	Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.E110D	ENST00000425534.3	37	c.330	CCDS46867.1	3	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179402	0.38511	.	.	ENSG00000163412	ENST00000425534;ENST00000448225;ENST00000389826;ENST00000295612;ENST00000421769;ENST00000497838;ENST00000496214;ENST00000469524	T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.52	5.52	0.82312	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	N	0.14661	0.345	0.53688	D	0.999976	P	0.34724	0.465	B	0.33568	0.166	T	0.08638	-1.0712	10	0.42905	T	0.14	-10.2898	10.5485	0.45074	0.0:0.8827:0.0:0.1173	.	110	Q8N5X7	IF4E3_HUMAN	D	110;4;4;4;4;4;4;4	ENSP00000393324:E110D;ENSP00000410350:E4D;ENSP00000374476:E4D;ENSP00000295612:E4D;ENSP00000411762:E4D;ENSP00000418211:E4D;ENSP00000417889:E4D;ENSP00000419421:E4D	ENSP00000295612:E4D	E	-	3	2	EIF4E3	71831469	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.576000	0.46033	2.608000	0.88229	0.491000	0.48974	GAG	EIF4E3	-	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom		0.373	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E3	HGNC	protein_coding	OTTHUMT00000352294.2	C	NM_173359		71748779	-1	no_errors	ENST00000425534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71748779	C	G	71748779	3	3	117	1	0	0	0	0	1	0	0	0	5043	912	32	1	364	1	EIF4E3	3	71748779	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2673630	71748779	126273651	268	17736										
DZIP3	9666	genome.wustl.edu	37	chr3	108351882	108351882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttacctagattgtgaacgatCttgtgaagctgacattttga	9	6	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:108351882C>T	ENST00000361582.3	+	9	1009	c.779C>T	c.(778-780)tCt>tTt	p.S260F	DZIP3_ENST00000463306.1_Missense_Mutation_p.S260F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	260					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGTGAACGATCTTGTGAAGCT	0.264																																																	0													134	149	144					3																	108351882		2203	4288	6491	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.779C>T	3.37:g.108351882C>T	ENSP00000355028:p.Ser260Phe		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S260F	ENST00000361582.3	37	c.779	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021557	0.19433	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.51574	0.7;0.7;0.7	4.39	3.51	0.40186	.	0.141093	0.33199	N	0.005178	T	0.26846	0.0657	N	0.19112	0.55	0.28227	N	0.926266	B	0.11235	0.004	B	0.09377	0.004	T	0.17077	-1.0381	10	0.10377	T	0.69	-5.4196	8.3674	0.32395	0.0:0.8922:0.0:0.1078	.	260	Q86Y13	DZIP3_HUMAN	F	260	ENSP00000355028:S260F;ENSP00000418115:S260F;ENSP00000419981:S260F	ENSP00000355028:S260F	S	+	2	0	DZIP3	109834572	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.298000	0.51818	1.081000	0.41110	-0.189000	0.12847	TCT	DZIP3	-	NULL		0.264	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108351882	1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108351882	C	T	108351882	3	4	117	1	0	0	0	0	1	0	0	0	4875	913	32	1	809	1	DZIP3	3	108351882	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	36603103	108351882	89670548	269	17737										
ZDHHC23	254887	genome.wustl.edu	37	chr3	113672893	113672893	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagggcgtgtgggtcccgttCagctggcggttcttacctgc	15	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:113672893C>T	ENST00000330212.3	+	3	807	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.Q164*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	170					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGGTCCCGTTCAGCTGGCGGT	0.532																																																	0													133	133	133					3																	113672893		2203	4300	6503	SO:0001587	stop_gained	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.508C>T	3.37:g.113672893C>T	ENSP00000330485:p.Gln170*		D3DN76	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q170*	ENST00000330212.3	37	c.508	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941022	0.73557	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	.	.	.	5.66	5.66	0.87406	.	0.296168	0.38959	N	0.001512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.5183	19.7359	0.96202	0.0:1.0:0.0:0.0	.	.	.	.	X	170;164	.	ENSP00000330485:Q170X	Q	+	1	0	ZDHHC23	115155583	1.000000	0.71417	0.170000	0.22879	0.331000	0.28603	5.388000	0.66249	2.672000	0.90937	0.462000	0.41574	CAG	ZDHHC23	-	NULL		0.532	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	C	NM_173570		113672893	1	no_errors	ENST00000478793	ensembl	human	known	70_37	nonsense	SNP	0.980	T	T	113672893	C	T	113672893	4	4	117	1	0	0	0	0	0	1	0	0	17644	827	29	1	514	1	ZDHHC23	3	113672893	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5321011	113672893	84349537	270	17738										
KIAA1407	57577	genome.wustl.edu	37	chr3	113729736	113729736	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcctgcagcagtgcatccatCttcttcctagtttcctcttt	6	14	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:113729736C>T	ENST00000295878.3	-	9	1442	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	KIAA1407_ENST00000545063.1_Silent_p.K263K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	432										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTGCATCCATCTTCTTCCTAG	0.532																																																	0													161	140	147					3																	113729736		2203	4300	6503	SO:0001819	synonymous_variant	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1296G>A	3.37:g.113729736C>T			B4DYL1|Q9P2E0	Silent	SNP	NULL	p.K432	ENST00000295878.3	37	c.1296	CCDS2977.1	3																																																																																			KIAA1407	-	NULL		0.532	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113729736	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113729736	C	T	113729736	2	4	117	1	0	0	0	0	0	0	0	1	8249	912	32	1		1	KIAA1407	3	113729736	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	56843	113729736	84292694	271	17739										
LSAMP	4045	genome.wustl.edu	37	chr3	115560818	115560818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccctccgtgctcttaatctCaaggccattggcactattta	7	13	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:115560818C>G	ENST00000490035.2	-	6	1292	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E262Q	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	265	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCTTAATCTCAAGGCCATTG	0.483																																																	0													95	85	88					3																	115560818		2203	4300	6503	SO:0001583	missense	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.793G>C	3.37:g.115560818C>G	ENSP00000419000:p.Glu265Gln		Q8IV49	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E265Q	ENST00000490035.2	37	c.793	CCDS2982.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146925	0.77888	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.66638	-0.22;-0.22;-0.22	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098261	0.64402	D	0.000001	T	0.66528	0.2798	L	0.31065	0.9	0.45914	D	0.998754	D;B	0.53312	0.959;0.298	P;B	0.50049	0.629;0.166	T	0.64188	-0.6466	10	0.37606	T	0.19	-11.3279	20.206	0.98277	0.0:1.0:0.0:0.0	.	265;265	B2RCU8;Q13449	.;LSAMP_HUMAN	Q	249;265;262	ENSP00000328455:E249Q;ENSP00000419000:E265Q;ENSP00000443429:E262Q	ENSP00000328455:E249Q	E	-	1	0	LSAMP	117043508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.093000	0.41710	2.785000	0.95823	0.655000	0.94253	GAG	LSAMP	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.483	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	HGNC	protein_coding	OTTHUMT00000354495.4	C	NM_002338		115560818	-1	no_errors	ENST00000490035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115560818	C	G	115560818	3	3	117	1	0	0	0	0	1	0	0	0	9071	835	29	1	231	1	LSAMP	3	115560818	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1831082	115560818	82461612	272	17740										
POLQ	10721	genome.wustl.edu	37	chr3	121195434	121195434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaaaaactgtggccagctaGttgataggcctgggtctcaa	12	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:121195434G>C	ENST00000264233.5	-	20	6486	c.6358C>G	c.(6358-6360)Cta>Gta	p.L2120V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2120					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)			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)		TGGCCAGCTAGTTGATAGGCC	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													136	126	129					3																	121195434		2203	4300	6503	SO:0001583	missense	10721			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.6358C>G	3.37:g.121195434G>C	ENSP00000264233:p.Leu2120Val		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.L2120V	ENST00000264233.5	37	c.6358	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521294	0.64747	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58652	0.32	5.01	4.11	0.48088	.	0.170667	0.40302	N	0.001139	T	0.73179	0.3554	M	0.69248	2.105	0.33370	D	0.573403	D;D	0.89917	0.997;1.0	D;D	0.79108	0.991;0.992	T	0.81439	-0.0932	10	0.51188	T	0.08	.	15.1511	0.72700	0.0:0.142:0.858:0.0	.	2120;1292	O75417;O75417-2	DPOLQ_HUMAN;.	V	1743;2120;2256	ENSP00000264233:L2120V	ENSP00000264233:L2120V	L	-	1	2	POLQ	122678124	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	3.456000	0.53000	1.056000	0.40484	0.313000	0.20887	CTA	POLQ	-	NULL		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121195434	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121195434	G	C	121195434	3	2	117	1	0	0	0	0	1	0	0	0	12232	1020	36	4	1458	4	POLQ	3	121195434	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5634616	121195434	76826996	273	17741										
GOLGB1	2804	genome.wustl.edu	37	chr3	121410101	121410101	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactctctcttctgctgtttCagtttcatttctcattatcc	3	13	6	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:121410101C>T	ENST00000340645.5	-	14	8220	c.8095G>A	c.(8095-8097)Gaa>Aaa	p.E2699K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2704K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2699					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTGCTGTTTCAGTTTCATTT	0.393																																																	0													248	254	252					3																	121410101		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8095G>A	3.37:g.121410101C>T	ENSP00000341848:p.Glu2699Lys		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2699K	ENST00000340645.5	37	c.8095	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101027	0.56183	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.26518	1.73;1.73	5.46	5.46	0.80206	.	0.090582	0.47852	D	0.000201	T	0.51686	0.1689	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.45673	-0.9245	10	0.36615	T	0.2	.	16.7937	0.85596	0.0:1.0:0.0:0.0	.	2704;2704;2699	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2699;2704	ENSP00000341848:E2699K;ENSP00000377275:E2704K	ENSP00000341848:E2699K	E	-	1	0	GOLGB1	122892791	1.000000	0.71417	0.953000	0.39169	0.989000	0.77384	7.324000	0.79115	2.549000	0.85964	0.655000	0.94253	GAA	GOLGB1	-	NULL		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121410101	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.999	T	T	121410101	C	T	121410101	3	4	117	1	0	0	0	0	1	0	0	0	6584	835	29	1	1720	1	GOLGB1	3	121410101	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	214667	121410101	76612329	274	17742										
CCDC14	64770	genome.wustl.edu	37	chr3	123675218	123675218	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttacctgactttctgaatcaGaatggatggaatagccagaa	9	7	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:123675218G>C	ENST00000488653.2	-	3	377	c.287C>G	c.(286-288)tCt>tGt	p.S96C	CCDC14_ENST00000489746.1_5'UTR|CCDC14_ENST00000433542.2_Missense_Mutation_p.S96C|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000485727.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	96					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTCTGAATCAGAATGGATGGA	0.279																																																	0													63	61	61					3																	123675218		692	1583	2275	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.287C>G	3.37:g.123675218G>C	ENSP00000420180:p.Ser96Cys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.S96C	ENST00000488653.2	37	c.287		3	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455864	0.63401	.	.	ENSG00000175455	ENST00000488653;ENST00000433542;ENST00000409697	T;T;T	0.68624	0.12;-0.34;0.12	5.43	5.43	0.79202	.	.	.	.	.	T	0.77315	0.4112	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.78365	-0.2232	9	0.87932	D	0	.	10.0432	0.42171	0.0884:0.0:0.9116:0.0	.	96;96	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	96;96;77	ENSP00000420180:S96C;ENSP00000395706:S96C;ENSP00000386866:S77C	ENSP00000386866:S77C	S	-	2	0	CCDC14	125157908	1.000000	0.71417	0.997000	0.53966	0.803000	0.45373	4.977000	0.63792	2.824000	0.97209	0.655000	0.94253	TCT	CCDC14	-	NULL		0.279	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		G	NM_022757		123675218	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.994	C	C	123675218	G	C	123675218	3	2	117	1	0	0	0	0	1	0	0	0	2778	942	33	1	2491	1	CCDC14	3	123675218	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2265117	123675218	74347212	275	17743										
MUC13	56667	genome.wustl.edu	37	chr3	124642461	124642461	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttaacacataacgaattatCtgcacagggatcatcttggc	7	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:124642461C>G	ENST00000311075.3	-	3	585	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	184	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACGAATTATCTGCACAGGGA	0.373																																																	0													136	115	122					3																	124642461		2203	4300	6503	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.547G>C	3.37:g.124642461C>G	ENSP00000312235:p.Asp183His		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.D183H	ENST00000311075.3	37	c.547		3	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174447	0.38413	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;D	0.95518	2.5;-3.73	4.7	2.9	0.33743	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.107710	0.06898	N	0.805546	D	0.93301	0.7865	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.58820	0.846	D	0.85457	0.1164	10	0.15499	T	0.54	-15.5368	6.1117	0.20104	0.184:0.7216:0.0:0.0944	.	183	Q9H3R2	MUC13_HUMAN	H	183;53	ENSP00000312235:D183H;ENSP00000418660:D53H	ENSP00000312235:D183H	D	-	1	0	MUC13	126125151	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.815000	0.04481	0.887000	0.36136	0.591000	0.81541	GAT	MUC13	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom		0.373	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1	C	NM_033049		124642461	-1	no_errors	ENST00000311075	ensembl	human	known	70_37	missense	SNP	0.001	G	G	124642461	C	G	124642461	3	3	117	1	0	0	0	0	1	0	0	0	9994	913	32	1	1024	1	MUC13	3	124642461	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	967243	124642461	73379969	276	17744										
KY	339855	genome.wustl.edu	37	chr3	134369692	134369692	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgcgctgcagcagcgagctCgggttcgcctgctggtctga	15	14	1	1	rs573771058		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:134369692C>G	ENST00000423778.2	-	1	172	c.111G>C	c.(109-111)ccG>ccC	p.P37P	KY_ENST00000508956.1_Silent_p.P37P|KY_ENST00000503669.1_Silent_p.P37P	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	37					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCAGCGAGCTCGGGTTCGCCT	0.687													C|||	1	0.000199681	0	0	5008	,	,		12743	0		0	False		,,,				2504	0.001																0													34	37	36					3																	134369692		2014	4161	6175	SO:0001819	synonymous_variant	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.111G>C	3.37:g.134369692C>G			B7Z1S4|Q6ZT15	Silent	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.P37	ENST00000423778.2	37	c.111	CCDS46920.1	3																																																																																			KY	-	NULL		0.687	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	C	NM_178554		134369692	-1	no_errors	ENST00000423778	ensembl	human	known	70_37	silent	SNP	0.996	G	G	134369692	C	G	134369692	2	3	117	1	0	0	0	0	0	0	0	1	8606	871	31	1		1	KY	3	134369692	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9727231	134369692	63652738	277	17745										
DZIP1L	199221	genome.wustl.edu	37	chr3	137787051	137787051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccatgcagtccggggcgtgGagcgggggcggacacctggg	20	11	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:137787051G>C	ENST00000327532.2	-	13	2136	c.1774C>G	c.(1774-1776)Cca>Gca	p.P592A	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	592					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCGGGGCGTGGAGCGGGGGCG	0.697																																																	0													44	48	47					3																	137787051		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1774C>G	3.37:g.137787051G>C	ENSP00000332148:p.Pro592Ala		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.P592A	ENST00000327532.2	37	c.1774	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816243	0.16607	.	.	ENSG00000158163	ENST00000327532	T	0.45276	0.9	4.91	4.03	0.46877	.	0.087771	0.48286	D	0.000193	T	0.37571	0.1008	L	0.59436	1.845	0.27423	N	0.954245	D	0.54397	0.966	P	0.46144	0.505	T	0.33574	-0.9863	10	0.05351	T	0.99	-4.3678	11.0821	0.48066	0.0:0.187:0.813:0.0	.	592	Q8IYY4	DZI1L_HUMAN	A	592	ENSP00000332148:P592A	ENSP00000332148:P592A	P	-	1	0	DZIP1L	139269741	0.499000	0.26083	0.047000	0.18901	0.013000	0.08279	1.694000	0.37752	1.263000	0.44181	-0.181000	0.13052	CCA	DZIP1L	-	NULL		0.697	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	G	NM_173543		137787051	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	missense	SNP	0.201	C	C	137787051	G	C	137787051	3	2	117	1	0	0	0	0	1	0	0	0	4874	1174	41	1	545	1	DZIP1L	3	137787051	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3417359	137787051	60235379	278	17746										
ESYT3	83850	genome.wustl.edu	37	chr3	138178868	138178868	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgtgactgtgttcttccttCagaagccggtgagtcccaag	11	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:138178868C>T	ENST00000389567.4	+	6	916	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	ESYT3_ENST00000289135.4_Nonsense_Mutation_p.Q244*	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTTCTTCCTTCAGAAGCCGGT	0.602																																																	0													56	53	54					3																	138178868		2203	4300	6503	SO:0001587	stop_gained	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.730C>T	3.37:g.138178868C>T	ENSP00000374218:p.Gln244*		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.Q244*	ENST00000389567.4	37	c.730	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029713	0.93518	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	.	.	.	5.08	4.19	0.49359	.	0.126738	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-18.5719	6.8233	0.23868	0.1729:0.7355:0.0:0.0916	.	.	.	.	X	244	.	ENSP00000289135:Q244X	Q	+	1	0	ESYT3	139661558	0.180000	0.23148	0.875000	0.34327	0.976000	0.68499	1.746000	0.38288	1.109000	0.41680	0.542000	0.68232	CAG	ESYT3	-	NULL		0.602	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	C	NM_031913		138178868	1	no_errors	ENST00000389567	ensembl	human	known	70_37	nonsense	SNP	0.019	T	T	138178868	C	T	138178868	4	4	117	1	0	0	0	0	0	1	0	0	5278	827	29	1	752	1	ESYT3	3	138178868	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	391817	138178868	59843562	279	17747										
PIK3CB	5291	genome.wustl.edu	37	chr3	138433528	138433528	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatggttttacacaggagctCagtaccatgaaaaagaccag	10	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:138433528C>T	ENST00000477593.1	-	8	1157	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	PIK3CB_ENST00000544716.1_5'Flank|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E362K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	362	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CACAGGAGCTCAGTACCATGA	0.368																																																	0													130	132	131					3																	138433528		2203	4299	6502	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1084G>A	3.37:g.138433528C>T	ENSP00000418143:p.Glu362Lys		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E362K	ENST00000477593.1	37	c.1084	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241467	0.79912	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.68624	-0.34;-0.34	5.62	5.62	0.85841	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.37750	1.13	0.80722	D	1	B	0.32653	0.379	B	0.40329	0.326	T	0.55471	-0.8136	10	0.07990	T	0.79	-18.8381	20.0114	0.97452	0.0:1.0:0.0:0.0	.	362	P42338	PK3CB_HUMAN	K	362	ENSP00000418143:E362K;ENSP00000289153:E362K	ENSP00000289153:E362K	E	-	1	0	PIK3CB	139916218	1.000000	0.71417	0.975000	0.42487	0.888000	0.51559	7.393000	0.79851	2.795000	0.96236	0.655000	0.94253	GAG	PIK3CB	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	C			138433528	-1	no_errors	ENST00000289153	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138433528	C	T	138433528	3	4	117	1	0	0	0	0	1	0	0	0	11938	835	29	1	2190	1	PIK3CB	3	138433528	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	254660	138433528	59588902	280	17748										
PIK3CB	5291	genome.wustl.edu	37	chr3	138453525	138453525	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atggaagaggaagattagatGaatttcgatttatggcagcc	12	4	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:138453525G>A	ENST00000477593.1	-	6	996	c.923C>T	c.(922-924)tCa>tTa	p.S308L	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S308L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	308					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AAGATTAGATGAATTTCGATT	0.368																																																	0													160	159	159					3																	138453525		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.923C>T	3.37:g.138453525G>A	ENSP00000418143:p.Ser308Leu		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S308L	ENST00000477593.1	37	c.923	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669801	0.47677	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.63096	-0.02;-0.02	5.97	5.97	0.96955	.	0.062818	0.64402	D	0.000003	T	0.46541	0.1398	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30001	-0.9993	10	0.32370	T	0.25	-5.1364	20.4324	0.99085	0.0:0.0:1.0:0.0	.	308	P42338	PK3CB_HUMAN	L	308	ENSP00000418143:S308L;ENSP00000289153:S308L	ENSP00000289153:S308L	S	-	2	0	PIK3CB	139936215	1.000000	0.71417	0.994000	0.49952	0.180000	0.23129	7.558000	0.82253	2.833000	0.97629	0.585000	0.79938	TCA	PIK3CB	-	NULL		0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	G			138453525	-1	no_errors	ENST00000289153	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138453525	G	A	138453525	3	1	117	1	0	0	0	0	1	0	0	0	11938	1294	45	1	2359	1	PIK3CB	3	138453525	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	19997	138453525	59568905	281	17749										
ZBTB38	253461	genome.wustl.edu	37	chr3	141162301	141162301	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttgacagcagcactctgctCagtgcccacatgcagcttca	8	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:141162301C>G	ENST00000514251.1	+	4	1350	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L	ZBTB38_ENST00000321464.5_Silent_p.L358L|ZBTB38_ENST00000441582.2_Silent_p.L357L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCACTCTGCTCAGTGCCCACA	0.522																																																	0													118	118	118					3																	141162301		1965	4149	6114	SO:0001819	synonymous_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1071C>G	3.37:g.141162301C>G				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L358	ENST00000514251.1	37	c.1074	CCDS43157.1	3																																																																																			ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	C			141162301	1	no_errors	ENST00000321464	ensembl	human	known	70_37	silent	SNP	0.783	G	G	141162301	C	G	141162301	2	3	117	1	0	0	0	0	0	0	0	1	17569	813	29	1		1	ZBTB38	3	141162301	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2708776	141162301	56860129	282	17750										
XRN1	54464	genome.wustl.edu	37	chr3	142078732	142078732	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaccctccaggaaattcttCatcaaataatacttcaaata	2	10	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:142078732C>T	ENST00000264951.4	-	30	3553	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	XRN1_ENST00000392981.2_Missense_Mutation_p.E1146K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1146					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GGAAATTCTTCATCAAATAAT	0.323																																																	0													77	79	78					3																	142078732		2203	4298	6501	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3436G>A	3.37:g.142078732C>T	ENSP00000264951:p.Glu1146Lys		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.E1146K	ENST00000264951.4	37	c.3436	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377106	0.82682	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29655	1.56;1.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	N	0.20986	0.625	0.80722	D	1	B;B	0.22276	0.067;0.04	B;B	0.27887	0.084;0.038	T	0.07121	-1.0789	10	0.10636	T	0.68	-20.6348	19.427	0.94746	0.0:1.0:0.0:0.0	.	1146;1146	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	K	1146	ENSP00000264951:E1146K;ENSP00000376707:E1146K	ENSP00000264951:E1146K	E	-	1	0	XRN1	143561422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.573000	0.86826	0.655000	0.94253	GAA	XRN1	-	pirsf_5_3_exoribonuclease_1		0.323	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	C	NM_019001		142078732	-1	no_errors	ENST00000264951	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142078732	C	T	142078732	3	4	117	1	0	0	0	0	1	0	0	0	17490	835	29	1	1736	1	XRN1	3	142078732	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	916431	142078732	55943698	283	17751										
TRPC1	7220	genome.wustl.edu	37	chr3	142521181	142521181	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagcaaagcaatgataccttCcattcgtgagtatcttttaa	6	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:142521181C>G	ENST00000476941.1	+	10	2238	c.1752C>G	c.(1750-1752)ttC>ttG	p.F584L	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.F550L	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	584					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATGATACCTTCCATTCGTGAG	0.318																																																	0													94	90	92					3																	142521181		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1752C>G	3.37:g.142521181C>G	ENSP00000419313:p.Phe584Leu		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F584L	ENST00000476941.1	37	c.1752	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001858	0.74932	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.99287	-5.69;-5.69	5.47	1.68	0.24146	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	L	0.58669	1.825	0.80722	D	1	P;P;D	0.89917	0.884;0.951;1.0	P;P;D	0.91635	0.608;0.696;0.999	D	0.98400	1.0567	10	0.52906	T	0.07	-24.8872	10.581	0.45255	0.0:0.7523:0.0:0.2477	.	550;584;550	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	L	584;550;103	ENSP00000419313:F584L;ENSP00000273482:F550L	ENSP00000273482:F550L	F	+	3	2	TRPC1	144003871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.301000	0.33447	0.372000	0.24591	0.650000	0.86243	TTC	TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel		0.318	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	C	NM_003304		142521181	1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142521181	C	G	142521181	3	3	117	1	0	0	0	0	1	0	0	0	16609	854	30	1	1684	1	TRPC1	3	142521181	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	442449	142521181	55501249	284	17752										
SLC9A9	285195	genome.wustl.edu	37	chr3	143271214	143271214	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttcttttacctgtttagttCttattttggaatccgaagac	6	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:143271214C>G	ENST00000316549.6	-	9	1287	c.1079G>C	c.(1078-1080)aGa>aCa	p.R360T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	360					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CTGTTTAGTTCTTATTTTGGA	0.348																																																	0													114	106	108					3																	143271214		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1079G>C	3.37:g.143271214C>G	ENSP00000320246:p.Arg360Thr		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R360T	ENST00000316549.6	37	c.1079	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624856	0.87560	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.54071	0.59	5.6	5.6	0.85130	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	N	0.16037	0.36	0.54753	D	0.999989	D	0.62365	0.991	D	0.78314	0.991	T	0.42882	-0.9425	10	0.07030	T	0.85	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	360	Q8IVB4	SL9A9_HUMAN	T	360;243	ENSP00000320246:R360T	ENSP00000320246:R360T	R	-	2	0	SLC9A9	144753904	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	6.861000	0.75478	2.808000	0.96608	0.650000	0.86243	AGA	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.348	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	C	NM_173653		143271214	-1	no_errors	ENST00000316549	ensembl	human	known	70_37	missense	SNP	1.000	G	G	143271214	C	G	143271214	3	3	117	1	0	0	0	0	1	0	0	0	14751	913	32	1	890	1	SLC9A9	3	143271214	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	750033	143271214	54751216	285	17753										
HLTF	6596	genome.wustl.edu	37	chr3	148756954	148756954	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgttttgaaaacactgaattGattcaactcttttcttttgg	6	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:148756954G>C	ENST00000310053.5	-	23	2871	c.2678C>G	c.(2677-2679)tCa>tGa	p.S893*	HLTF_ENST00000392912.2_Nonsense_Mutation_p.S893*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.S892*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.S893*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	893	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)			ACACTGAATTGATTCAACTCT	0.413																																																	0													72	70	71					3																	148756954		2203	4300	6503	SO:0001587	stop_gained	6596			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.2678C>G	3.37:g.148756954G>C	ENSP00000308944:p.Ser893*		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	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.S893*	ENST00000310053.5	37	c.2678	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.451692	0.99175	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.9228	20.0685	0.97708	0.0:0.0:1.0:0.0	.	.	.	.	X	892;893;893;893;361	.	ENSP00000308944:S893X	S	-	2	0	HLTF	150239644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.639000	0.67868	2.835000	0.97688	0.650000	0.86243	TCA	HLTF	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.413	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	G			148756954	-1	no_errors	ENST00000310053	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	148756954	G	C	148756954	4	2	117	1	0	0	0	0	0	1	0	0	7235	1294	45	1	363	1	HLTF	3	148756954	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5485740	148756954	49265476	286	17754										
AADACL2	344752	genome.wustl.edu	37	chr3	151475084	151475084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atatactgaaccaattcttgGaggacttagttattcattgc	7	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:151475084G>A	ENST00000356517.3	+	5	1017	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	303						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCAATTCTTGGAGGACTTAGT	0.378																																																	0													122	124	123					3																	151475084		2203	4298	6501	SO:0001583	missense	344752			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.908G>A	3.37:g.151475084G>A	ENSP00000348911:p.Gly303Glu		Q5HYJ4	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.G303E	ENST00000356517.3	37	c.908	CCDS3161.2	3	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587022	0.66105	.	.	ENSG00000197953	ENST00000356517	T	0.57436	0.4	4.9	4.9	0.64082	.	0.960224	0.08661	N	0.912483	T	0.65322	0.2680	L	0.38733	1.17	0.36696	D	0.87982	D	0.59767	0.986	D	0.65140	0.932	T	0.61525	-0.7045	10	0.34782	T	0.22	-30.864	17.8457	0.88729	0.0:0.0:1.0:0.0	.	303	Q6P093	ADCL2_HUMAN	E	303	ENSP00000348911:G303E	ENSP00000348911:G303E	G	+	2	0	AADACL2	152957774	0.307000	0.24500	0.834000	0.33040	0.504000	0.33889	2.549000	0.45803	2.555000	0.86185	0.591000	0.81541	GGA	AADACL2	-	pirsf_Arylacetamide_deacetylase		0.378	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	HGNC	protein_coding	OTTHUMT00000342288.3	G	NM_207365		151475084	1	no_errors	ENST00000356517	ensembl	human	known	70_37	missense	SNP	0.995	A	A	151475084	G	A	151475084	3	1	117	1	0	0	0	0	1	0	0	0	11	1174	41	1	926	1	AADACL2	3	151475084	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2718130	151475084	46547346	287	17755										
P2RY1	5028	genome.wustl.edu	37	chr3	152554066	152554066	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccctgggccggctcaaaaaGaagaatgcgatctgtatcag	11	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:152554066G>C	ENST00000305097.3	+	1	1331	c.495G>C	c.(493-495)aaG>aaC	p.K165N		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	165					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGCTCAAAAAGAAGAATGCGA	0.542																																																	0													137	110	120					3																	152554066		2203	4300	6503	SO:0001583	missense	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.495G>C	3.37:g.152554066G>C	ENSP00000304767:p.Lys165Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.K165N	ENST00000305097.3	37	c.495	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434290	0.43224	.	.	ENSG00000169860	ENST00000305097	T	0.73575	-0.76	5.76	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	L	0.41356	1.27	0.58432	D	0.999999	D	0.53462	0.96	P	0.52386	0.697	T	0.69525	-0.5122	10	0.16420	T	0.52	.	15.7863	0.78306	0.0:0.1364:0.8636:0.0	.	165	P47900	P2RY1_HUMAN	N	165	ENSP00000304767:K165N	ENSP00000304767:K165N	K	+	3	2	P2RY1	154036756	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.713000	0.61895	1.386000	0.46466	0.655000	0.94253	AAG	P2RY1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	G	NM_002563		152554066	1	no_errors	ENST00000305097	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152554066	G	C	152554066	3	2	117	1	0	0	0	0	1	0	0	0	11370	933	33	1	497	1	P2RY1	3	152554066	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1078982	152554066	45468364	288	17756										
PLCH1	23007	genome.wustl.edu	37	chr3	155198792	155198792	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaataaatttctggtttatCatcactgcttggctcagtct	6	8	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155198792C>T	ENST00000340059.7	-	23	5046	c.5047G>A	c.(5047-5049)Gat>Aat	p.D1683N	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1645N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1645N|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1645N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1683					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGGTTTATCATCACTGCTT	0.403																																																	0													41	48	45					3																	155198792		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5047G>A	3.37:g.155198792C>T	ENSP00000345988:p.Asp1683Asn		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1683N	ENST00000340059.7	37	c.5047	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987225	0.93106	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.38	5.38	0.77491	.	2.508580	0.01518	N	0.018247	T	0.54581	0.1867	M	0.64997	1.995	0.47123	D	0.999328	D;D	0.63046	0.992;0.961	P;P	0.59357	0.856;0.494	T	0.29058	-1.0024	10	0.87932	D	0	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	1645;1683	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1645;1683;1645;1645	ENSP00000417502:D1645N;ENSP00000345988:D1683N;ENSP00000335469:D1645N;ENSP00000412977:D1645N	ENSP00000335469:D1645N	D	-	1	0	PLCH1	156681486	0.944000	0.32072	0.936000	0.37596	0.995000	0.86356	3.406000	0.52637	2.504000	0.84457	0.655000	0.94253	GAT	PLCH1	-	NULL		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155198792	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.997	T	T	155198792	C	T	155198792	3	4	117	1	0	0	0	0	1	0	0	0	12061	826	29	1	38	1	PLCH1	3	155198792	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2644726	155198792	42823638	289	17757			2	78		6	6	2021	N	G_C	4.821942e-08
PLCH1	23007	genome.wustl.edu	37	chr3	155199221	155199221	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagctgctcggtcagggcatCtataggctctaacgactttg	11	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155199221C>T	ENST00000340059.7	-	23	4617	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1502N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1502N|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1502N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1540					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCAGGGCATCTATAGGCTCT	0.478																																																	0													67	69	68					3																	155199221		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4618G>A	3.37:g.155199221C>T	ENSP00000345988:p.Asp1540Asn		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1540N	ENST00000340059.7	37	c.4618	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408604	0.62399	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.49139	0.79;0.8;0.79;0.79	5.26	5.26	0.73747	.	0.329757	0.32655	N	0.005819	T	0.70395	0.3219	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.73662	-0.3912	10	0.66056	D	0.02	.	18.8629	0.92280	0.0:1.0:0.0:0.0	.	1502;1540	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1502;1540;1502;1502	ENSP00000417502:D1502N;ENSP00000345988:D1540N;ENSP00000335469:D1502N;ENSP00000412977:D1502N	ENSP00000335469:D1502N	D	-	1	0	PLCH1	156681915	1.000000	0.71417	0.573000	0.28510	0.063000	0.16089	7.330000	0.79181	2.428000	0.82296	0.650000	0.86243	GAT	PLCH1	-	NULL		0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155199221	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155199221	C	T	155199221	3	4	117	1	0	0	0	0	1	0	0	0	12061	913	32	1	467	1	PLCH1	3	155199221	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	429	155199221	42823209	290	17758			2	78		6	6	2021	N	G_C	4.821942e-08
PLCH1	23007	genome.wustl.edu	37	chr3	155199584	155199584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgaatattgttgaatatttCagggacagaagggcggaggg	15	3	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155199584C>T	ENST00000340059.7	-	23	4254	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1381K|PLCH1_ENST00000460012.1_Missense_Mutation_p.E1381K|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1381K	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1419					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGAATATTTCAGGGACAGAA	0.398																																																	0													92	93	93					3																	155199584		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4255G>A	3.37:g.155199584C>T	ENSP00000345988:p.Glu1419Lys		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E1419K	ENST00000340059.7	37	c.4255	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883151	0.33255	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.72	2.89	0.33648	.	1.191640	0.05736	N	0.600562	T	0.68997	0.3062	L	0.29908	0.895	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.36608	0.229;0.115	T	0.59408	-0.7460	10	0.51188	T	0.08	.	9.1625	0.37032	0.0:0.8236:0.0:0.1764	.	1381;1419	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	K	1381;1419;1381;1381	ENSP00000417502:E1381K;ENSP00000345988:E1419K;ENSP00000335469:E1381K;ENSP00000412977:E1381K	ENSP00000335469:E1381K	E	-	1	0	PLCH1	156682278	0.001000	0.12720	0.001000	0.08648	0.820000	0.46376	0.921000	0.28718	0.970000	0.38263	0.585000	0.79938	GAA	PLCH1	-	NULL		0.398	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155199584	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.002	T	T	155199584	C	T	155199584	3	4	117	1	0	0	0	0	1	0	0	0	12061	835	29	1	830	1	PLCH1	3	155199584	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	363	155199584	42822846	291	17759			2	78		6	6	2021	N	G_C	4.821942e-08
PLCH1	23007	genome.wustl.edu	37	chr3	155199800	155199800	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attgaaacagagagtgggatCagctattacatcctccaggg	11	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155199800C>T	ENST00000340059.7	-	23	4038	c.4039G>A	c.(4039-4041)Gat>Aat	p.D1347N	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1309N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1309N|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1309N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1347					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAGTGGGATCAGCTATTACA	0.473																																																	0													46	50	49					3																	155199800		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4039G>A	3.37:g.155199800C>T	ENSP00000345988:p.Asp1347Asn		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1347N	ENST00000340059.7	37	c.4039	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617827	0.46736	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.31	3.51	0.40186	.	1.332910	0.04685	N	0.413151	T	0.63850	0.2546	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.48681	-0.9014	10	0.16420	T	0.52	.	8.6249	0.33883	0.0:0.7703:0.0:0.2297	.	1309;1347	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1309;1347;1309;1309	ENSP00000417502:D1309N;ENSP00000345988:D1347N;ENSP00000335469:D1309N;ENSP00000412977:D1309N	ENSP00000335469:D1309N	D	-	1	0	PLCH1	156682494	0.002000	0.14202	0.012000	0.15200	0.593000	0.36681	1.583000	0.36579	1.236000	0.43740	-0.384000	0.06662	GAT	PLCH1	-	NULL		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155199800	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.009	T	T	155199800	C	T	155199800	3	4	117	1	0	0	0	0	1	0	0	0	12061	826	29	1	1046	1	PLCH1	3	155199800	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	216	155199800	42822630	292	17760			2	78		6	6	2021	N	G_C	4.821942e-08
PLCH1	23007	genome.wustl.edu	37	chr3	155200384	155200384	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcatggagacgtctgacaaaGaaaaggatgttgcagctcgg	14	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155200384G>A	ENST00000340059.7	-	23	3454	c.3455C>T	c.(3454-3456)tCt>tTt	p.S1152F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1152					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443																																																	0													82	76	78					3																	155200384		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3455C>T	3.37:g.155200384G>A	ENSP00000345988:p.Ser1152Phe		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S1152F	ENST00000340059.7	37	c.3455	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690886	0.68271	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.57	4.68	0.58851	.	0.462157	0.25481	N	0.030364	T	0.58722	0.2142	L	0.36672	1.1	0.52099	D	0.999948	D;D	0.76494	0.999;0.997	D;D	0.69654	0.965;0.923	T	0.62704	-0.6798	10	0.87932	D	0	.	15.3276	0.74179	0.0:0.1403:0.8597:0.0	.	1114;1152	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	F	1114;1152;1114;1114	ENSP00000417502:S1114F;ENSP00000345988:S1152F;ENSP00000335469:S1114F;ENSP00000412977:S1114F	ENSP00000335469:S1114F	S	-	2	0	PLCH1	156683078	1.000000	0.71417	0.700000	0.30305	0.732000	0.41865	5.704000	0.68347	1.310000	0.45006	0.591000	0.81541	TCT	PLCH1	-	NULL		0.443	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155200384	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.992	A	A	155200384	G	A	155200384	3	1	117	1	0	0	0	0	1	0	0	0	12061	942	33	1	1630	1	PLCH1	3	155200384	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	584	155200384	42822046	293	17761			2	78		6	6	2021	N	G_C	4.821942e-08
PLCH1	23007	genome.wustl.edu	37	chr3	155200812	155200812	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatcttttatacttgctttCccttttcttctgccatcttt	4	11	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155200812C>T	ENST00000340059.7	-	23	3026	c.3027G>A	c.(3025-3027)ggG>ggA	p.G1009G	PLCH1_ENST00000494598.1_Intron|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000414191.1_Silent_p.G971G|PLCH1_ENST00000460012.1_Silent_p.G971G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.G971G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1009					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACTTGCTTTCCCTTTTCTTC	0.393																																																	0													141	149	146					3																	155200812		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3027G>A	3.37:g.155200812C>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G1009	ENST00000340059.7	37	c.3027	CCDS46939.1	3																																																																																			PLCH1	-	NULL		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155200812	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	silent	SNP	0.000	T	T	155200812	C	T	155200812	2	4	117	1	0	0	0	0	0	0	0	1	12061	842	30	1		1	PLCH1	3	155200812	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	428	155200812	42821618	294	17762			2	78		6	6	2021	N	G_C	4.821942e-08
SMC4	10051	genome.wustl.edu	37	chr3	160135675	160135675	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attgcagcttctgagactctCaaagaaaggaaagctgcaat	9	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:160135675C>G	ENST00000357388.3	+	11	2053	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.L534L|SMC4_ENST00000469762.1_Silent_p.L509L|SMC4_ENST00000360111.2_Silent_p.L534L|SMC4_ENST00000462787.1_Silent_p.L534L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	534					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGAGACTCTCAAAGAAAGGA	0.393																																																	0													58	57	57					3																	160135675		2203	4300	6503	SO:0001819	synonymous_variant	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1602C>G	3.37:g.160135675C>G			A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.L534	ENST00000357388.3	37	c.1602	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC		0.393	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	C			160135675	1	no_errors	ENST00000344722	ensembl	human	known	70_37	silent	SNP	0.977	G	G	160135675	C	G	160135675	2	3	117	1	0	0	0	0	0	0	0	1	14815	813	29	1		1	SMC4	3	160135675	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4934863	160135675	37886755	295	17763										
TRIM59	286827	genome.wustl.edu	37	chr3	160155867	160155867	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaactttggtaaacagataGagaggcttcagaaaaccata	8	6	1	3	rs557840155		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:160155867G>C	ENST00000309784.4	-	3	1290	c.1105C>G	c.(1105-1107)Cta>Gta	p.L369V	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	369					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAACAGATAGAGAGGCTTCA	0.303																																																	0													57	60	59					3																	160155867		2203	4297	6500	SO:0001583	missense	286827			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.1105C>G	3.37:g.160155867G>C	ENSP00000311219:p.Leu369Val		A8K5G9|D3DNL9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.L369V	ENST00000309784.4	37	c.1105	CCDS3190.1	3	.	.	.	.	.	.	.	.	.	.	g	5.602	0.295825	0.10622	.	.	ENSG00000213186	ENST00000309784	T	0.22743	1.94	5.54	-2.48	0.06423	.	0.621750	0.17960	N	0.156236	T	0.10423	0.0255	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21930	-1.0231	9	.	.	.	-3.7601	0.8065	0.01085	0.2062:0.2335:0.3207:0.2396	.	369	Q8IWR1	TRI59_HUMAN	V	369	ENSP00000311219:L369V	.	L	-	1	2	TRIM59	161638561	0.000000	0.05858	0.009000	0.14445	0.930000	0.56654	-0.135000	0.10420	-0.493000	0.06678	-0.265000	0.10407	CTA	TRIM59	-	NULL		0.303	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM59	HGNC	protein_coding	OTTHUMT00000352963.1	G	NM_173084		160155867	-1	no_errors	ENST00000309784	ensembl	human	known	70_37	missense	SNP	0.003	C	C	160155867	G	C	160155867	3	2	117	1	0	0	0	0	1	0	0	0	16563	933	33	1	110	1	TRIM59	3	160155867	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	20192	160155867	37866563	296	17764										
SLITRK3	22865	genome.wustl.edu	37	chr3	164906555	164906555	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttcctgccgcttgcttctGaagggcagcttctttcgacg	10	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:164906555G>A	ENST00000475390.1	-	2	2507	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	SLITRK3_ENST00000241274.3_Silent_p.F688F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	688					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTTGCTTCTGAAGGGCAGCT	0.547										HNSCC(40;0.11)																																							0													86	69	75					3																	164906555		2203	4300	6503	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2064C>T	3.37:g.164906555G>A			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F688	ENST00000475390.1	37	c.2064	CCDS3197.1	3																																																																																			SLITRK3	-	NULL		0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	G	NM_014926		164906555	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	silent	SNP	0.927	A	A	164906555	G	A	164906555	2	1	117	1	0	0	0	0	0	0	0	1	14774	1281	45	1		1	SLITRK3	3	164906555	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4750688	164906555	33115875	297	17765										
PRKCI	5584	genome.wustl.edu	37	chr3	169981171	169981171	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtttattttctttcagtgttCccttgtgtaccagaacgtcc	7	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:169981171C>G	ENST00000295797.4	+	4	623	c.318C>G	c.(316-318)ttC>ttG	p.F106L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	106	OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TTTCAGTGTTCCCTTGTGTAC	0.338																																																	0													184	166	172					3																	169981171		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.318C>G	3.37:g.169981171C>G	ENSP00000295797:p.Phe106Leu		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F106L	ENST00000295797.4	37	c.318	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867671	0.72065	.	.	ENSG00000163558	ENST00000295797	T	0.24908	1.83	5.45	-3.82	0.04281	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43702	-0.9375	9	.	.	.	.	14.6244	0.68611	0.0:0.3742:0.0:0.6258	.	106	P41743	KPCI_HUMAN	L	106	ENSP00000295797:F106L	.	F	+	3	2	PRKCI	171463865	0.360000	0.24964	0.897000	0.35233	0.971000	0.66376	-0.440000	0.06888	-0.751000	0.04734	-0.225000	0.12378	TTC	PRKCI	-	pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta		0.338	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	C	NM_002740		169981171	1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	0.718	G	G	169981171	C	G	169981171	3	3	117	1	0	0	0	0	1	0	0	0	12541	854	30	1	332	1	PRKCI	3	169981171	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5074616	169981171	28041259	298	17766										
SLC7A14	57709	genome.wustl.edu	37	chr3	170204088	170204088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgtgttgggattcttggcttCctctccagtggtggcgatga	14	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:170204088C>G	ENST00000231706.5	-	5	1144	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	277					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTCTTGGCTTCCTCTCCAGTG	0.512																																																	0													355	260	292					3																	170204088		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.829G>C	3.37:g.170204088C>G	ENSP00000231706:p.Glu277Gln		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.E277Q	ENST00000231706.5	37	c.829	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594191	0.86953	.	.	ENSG00000013293	ENST00000231706	D	0.94330	-3.4	5.95	4.18	0.49190	Amino acid permease domain (1);	0.042576	0.85682	D	0.000000	D	0.98043	0.9355	H	0.98754	4.32	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	.	12.8377	0.57782	0.0:0.869:0.0:0.131	.	277	Q8TBB6	S7A14_HUMAN	Q	277	ENSP00000231706:E277Q	ENSP00000231706:E277Q	E	-	1	0	SLC7A14	171686782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.429000	0.80309	0.863000	0.35553	0.563000	0.77884	GAA	SLC7A14	-	pfam_AA-permease_dom		0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170204088	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170204088	C	G	170204088	3	3	117	1	0	0	0	0	1	0	0	0	14726	864	30	1	1502	1	SLC7A14	3	170204088	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	222917	170204088	27818342	299	17767										
MFN1	55669	genome.wustl.edu	37	chr3	179082959	179082959	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctttccaagcctaatattttCattctcaataatcgttggga	5	9	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:179082959C>T	ENST00000471841.1	+	7	825	c.699C>T	c.(697-699)ttC>ttT	p.F233F	MFN1_ENST00000263969.5_Silent_p.F233F|MFN1_ENST00000280653.7_Silent_p.F233F	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	233	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTAATATTTTCATTCTCAATA	0.333																																																	0													56	61	59					3																	179082959		2203	4300	6503	SO:0001819	synonymous_variant	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.699C>T	3.37:g.179082959C>T			B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.F233	ENST00000471841.1	37	c.699	CCDS3228.1	3																																																																																			MFN1	-	pfam_Dynamin_GTPase		0.333	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	C	NM_017927		179082959	1	no_errors	ENST00000263969	ensembl	human	known	70_37	silent	SNP	0.992	T	T	179082959	C	T	179082959	2	4	117	1	0	0	0	0	0	0	0	1	9546	825	29	1		1	MFN1	3	179082959	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8878871	179082959	18939471	300	17768										
MFN1	55669	genome.wustl.edu	37	chr3	179082985	179082985	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caataatcgttgggatgcctCtgcatcagagccagaatata	9	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:179082985C>G	ENST00000471841.1	+	7	851	c.725C>G	c.(724-726)tCt>tGt	p.S242C	MFN1_ENST00000263969.5_Missense_Mutation_p.S242C|MFN1_ENST00000280653.7_Missense_Mutation_p.S242C	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	242	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGGGATGCCTCTGCATCAGAG	0.328																																																	0													50	54	53					3																	179082985		2203	4300	6503	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.725C>G	3.37:g.179082985C>G	ENSP00000420617:p.Ser242Cys		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.S242C	ENST00000471841.1	37	c.725	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927490	0.73327	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.66;-3.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;P;P	0.87578	0.998;0.907;0.907	D	0.98003	1.0361	10	0.48119	T	0.1	-19.0836	19.7394	0.96219	0.0:1.0:0.0:0.0	.	242;270;242	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	C	242;242;242;242;95;105	ENSP00000420617:S242C;ENSP00000280653:S242C;ENSP00000263969:S242C;ENSP00000420148:S95C;ENSP00000419926:S105C	ENSP00000263969:S242C	S	+	2	0	MFN1	180565679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.739000	0.68622	2.649000	0.89929	0.563000	0.77884	TCT	MFN1	-	NULL		0.328	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	C	NM_017927		179082985	1	no_errors	ENST00000263969	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179082985	C	G	179082985	3	3	117	1	0	0	0	0	1	0	0	0	9546	913	32	1	747	1	MFN1	3	179082985	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	26	179082985	18939445	301	17769										
MCF2L2	23101	genome.wustl.edu	37	chr3	183014773	183014773	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaagcattacctttgcatcGagggtgagcagcaactcaaa	11	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:183014773G>C	ENST00000328913.3	-	12	1785	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000473233.1_Silent_p.L496L|MCF2L2_ENST00000447025.2_Silent_p.L496L|MCF2L2_ENST00000414362.2_Silent_p.L496L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	496							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTTGCATCGAGGGTGAGCA	0.512																																																	0													92	80	84					3																	183014773		2203	4300	6503	SO:0001819	synonymous_variant	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1488C>G	3.37:g.183014773G>C			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L496	ENST00000328913.3	37	c.1488	CCDS3243.1	3																																																																																			MCF2L2	-	NULL		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	G	NM_015078		183014773	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	silent	SNP	0.131	C	C	183014773	G	C	183014773	2	2	117	1	0	0	0	0	0	0	0	1	9403	1045	37	1		1	MCF2L2	3	183014773	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3931788	183014773	15007657	302	17770										
AP2M1	1173	genome.wustl.edu	37	chr3	183899781	183899781	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggacgcaccaaactggaggtCaaggtggtcatcaagtccaa	12	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:183899781C>G	ENST00000292807.5	+	9	1057	c.909C>G	c.(907-909)gtC>gtG	p.V303V	AP2M1_ENST00000439647.1_Silent_p.V301V|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.V301V|AP2M1_ENST00000411763.2_Silent_p.V328V	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	303	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACTGGAGGTCAAGGTGGTCA	0.537																																																	0													57	57	57					3																	183899781		2026	4182	6208	SO:0001819	synonymous_variant	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.909C>G	3.37:g.183899781C>G			A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.V303	ENST00000292807.5	37	c.909	CCDS43177.1	3																																																																																			AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.537	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	C	NM_004068		183899781	1	no_errors	ENST00000292807	ensembl	human	known	70_37	silent	SNP	0.999	G	G	183899781	C	G	183899781	2	3	117	1	0	0	0	0	0	0	0	1	742	813	29	1		1	AP2M1	3	183899781	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	885008	183899781	14122649	303	17771										
C3orf70	285382	genome.wustl.edu	37	chr3	184870595	184870595	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaccccgctccgacgccggcGaggccgccgcactcatttcc	10	20	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:184870595G>T	ENST00000335012.2	-	1	207	c.17C>A	c.(16-18)tCg>tAg	p.S6*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16	17	17					3																	184870595		2196	4292	6488	SO:0001587	stop_gained	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>A	3.37:g.184870595G>T	ENSP00000334974:p.Ser6*		B2RNY2|B9EH83	Nonsense_Mutation	SNP	NULL	p.S6*	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232127	0.79688	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000334974:S6X	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	nonsense	SNP	0.804	T	T	184870595	G	T	184870595	4	4	117	1	0	0	0	0	0	1	0	0	2247	1059	37	3	743	3	C3orf70	3	184870595	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	970814	184870595	13151835	304	17772										
HRG	3273	genome.wustl.edu	37	chr3	186395416	186395416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctgggcacttaagaaggcGaggcccaggtaaaggacccc	13	12	0	1	rs529521530		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:186395416G>A	ENST00000232003.4	+	7	1402	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTAAGAAGGCGAGGCCCAGGT	0.552																																																	0													69	63	65					3																	186395416		2203	4300	6503	SO:0001583	missense	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1322G>A	3.37:g.186395416G>A	ENSP00000232003:p.Arg441Gln		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R441Q	ENST00000232003.4	37	c.1322	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	G	4.416	0.076845	0.08485	.	.	ENSG00000113905	ENST00000232003	T	0.22134	1.97	4.88	-1.37	0.09056	.	0.270380	0.26590	N	0.023525	T	0.13286	0.0322	L	0.46157	1.445	0.09310	N	1	B	0.24533	0.105	B	0.12837	0.008	T	0.36335	-0.9752	10	0.12430	T	0.62	-10.8229	8.7308	0.34498	0.5756:0.0:0.4244:0.0	.	441	P04196	HRG_HUMAN	Q	441	ENSP00000232003:R441Q	ENSP00000232003:R441Q	R	+	2	0	HRG	187878110	0.001000	0.12720	0.033000	0.17914	0.002000	0.02628	-0.252000	0.08806	-0.150000	0.11195	-0.474000	0.04947	CGA	HRG	-	NULL		0.552	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	G	NM_000412		186395416	1	no_errors	ENST00000232003	ensembl	human	known	70_37	missense	SNP	0.017	A	A	186395416	G	A	186395416	3	1	117	1	0	0	0	0	1	0	0	0	7374	1058	37	1	1348	1	HRG	3	186395416	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1524821	186395416	11627014	305	17773										
EIF4A2	1974	genome.wustl.edu	37	chr3	186504951	186504951	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acactttgtgacttgtacgaGacactgaccattacacaggc	8	11	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:186504951G>A	ENST00000323963.5	+	8	871	c.807G>A	c.(805-807)gaG>gaA	p.E269E	EIF4A2_ENST00000356531.5_Silent_p.E174E|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.E270E|SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACTTGTACGAGACACTGACCA	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													118	118	118					3																	186504951		2203	4300	6503	SO:0001819	synonymous_variant	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.807G>A	3.37:g.186504951G>A			D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E270	ENST00000323963.5	37	c.810	CCDS3282.1	3																																																																																			EIF4A2	-	pfscan_Helicase_C		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186504951	1	no_errors	ENST00000440191	ensembl	human	known	70_37	silent	SNP	1.000	A	A	186504951	G	A	186504951	2	1	117	1	0	0	0	0	0	0	0	1	5037	933	33	1		1	EIF4A2	3	186504951	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	109535	186504951	11517479	306	17774										
BCL6	604	genome.wustl.edu	37	chr3	187443392	187443392	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggttgaactgggccccacaGatgttgcaacgatagggttt	13	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:187443392G>T	ENST00000406870.2	-	8	2100	c.1734C>A	c.(1732-1734)atC>atA	p.I578I	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.I522I|BCL6_ENST00000232014.4_Silent_p.I578I	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	578					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGCCCCACAGATGTTGCAAC	0.488			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													112	120	118					3																	187443392		2203	4300	6503	SO:0001819	synonymous_variant	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1734C>A	3.37:g.187443392G>T			A7E241|B8PSA7|D3DNV5	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I578	ENST00000406870.2	37	c.1734	CCDS3289.1	3																																																																																			BCL6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	G	NM_138931		187443392	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	silent	SNP	1.000	T	T	187443392	G	T	187443392	2	4	117	1	0	0	0	0	0	0	0	1	1377	932	33	3		3	BCL6	3	187443392	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	938441	187443392	10579038	307	17775										
MUC4	4585	genome.wustl.edu	37	chr3	195474048	195474048	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctaggccacagctgccccttCaaggcaaggcctcagctgag	11	15	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:195474048C>G	ENST00000346145.4	-	24	3569	c.3530G>C	c.(3529-3531)tGa>tCa	p.*1177S	MUC4_ENST00000349607.4_Nonstop_Mutation_p.*1126S|MUC4_ENST00000463781.3_Nonstop_Mutation_p.*5413S|MUC4_ENST00000475231.1_Nonstop_Mutation_p.*5361S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGCCCCTTCAAGGCAAGGC	0.577																																																	0													71	77	75					3																	195474048		2203	4300	6503	SO:0001578	stop_lost	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3530G>C	3.37:g.195474048C>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonstop_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.*5413S	ENST00000346145.4	37	c.16238	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	c	12.99	2.104311	0.37145	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	4.7	-3.16	0.05217	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3086	0.21153	0.0:0.5316:0.177:0.2914	.	.	.	.	S	1126;1177;5413;5361;1913	.	.	X	-	2	2	MUC4	196959719	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.645000	0.02000	-0.365000	0.08076	-0.390000	0.06520	TGA	MUC4	-	NULL		0.577	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	C	NM_018406		195474048	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonstop	SNP	0.000	G	G	195474048	C	G	195474048	4	3	117	1	0	0	0	0	0	0	0	0	10001	837	29	1	4	1	MUC4	3	195474048	Nonstop_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8030656	195474048	2548382	308	17776										
MUC4	4585	genome.wustl.edu	37	chr3	195474200	195474200	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacgcgtcgagtttcatgctCaggtgctcacagtgctcgcc	11	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:195474200C>A	ENST00000346145.4	-	24	3417	c.3378G>T	c.(3376-3378)ctG>ctT	p.L1126L	MUC4_ENST00000349607.4_Silent_p.L1075L|MUC4_ENST00000463781.3_Silent_p.L5362L|MUC4_ENST00000475231.1_Silent_p.L5310L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2119					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTTCATGCTCAGGTGCTCAC	0.627																																																	0													73	61	65					3																	195474200		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3378G>T	3.37:g.195474200C>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L5362	ENST00000346145.4	37	c.16086	CCDS3310.1	3																																																																																			MUC4	-	NULL		0.627	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	C	NM_018406		195474200	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.965	A	A	195474200	C	A	195474200	2	1	117	1	0	0	0	0	0	0	0	1	10001	813	29	3		3	MUC4	3	195474200	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	152	195474200	2548230	309	17777										
CTBP1	1487	genome.wustl.edu	37	chr4	1222068	1222068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcggagggctttgaacttctCcaggtcctccctggtgagag	14	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:1222068C>G	ENST00000290921.6	-	3	440	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	CTBP1_ENST00000382952.3_Missense_Mutation_p.E76Q	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	87					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TTGAACTTCTCCAGGTCCTCC	0.587																																																	0													172	151	158					4																	1222068		2203	4300	6503	SO:0001583	missense	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.259G>C	4.37:g.1222068C>G	ENSP00000290921:p.Glu87Gln		Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.E87Q	ENST00000290921.6	37	c.259	CCDS3348.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871339|3.871339	0.72065|0.72065	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180;ENST00000514210;ENST00000515399;ENST00000513420|ENST00000504092	T;T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.43;0.43|.	4.85|4.85	4.85|4.85	0.62838|0.62838	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66982|0.66982	0.2845|0.2845	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	B;B|.	0.33694|.	0.421;0.208|.	B;B|.	0.39660|.	0.306;0.215|.	T|T	0.64499|0.64499	-0.6393|-0.6393	10|5	0.62326|.	D|.	0.03|.	-33.503|-33.503	17.9751|17.9751	0.89124|0.89124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87;76|.	Q13363;Q7Z2Q5|.	CTBP1_HUMAN;.|.	Q|A	76;87;81;76;76;76|2	ENSP00000372411:E76Q;ENSP00000290921:E87Q;ENSP00000424684:E81Q;ENSP00000426470:E76Q;ENSP00000425053:E76Q;ENSP00000420983:E76Q|.	ENSP00000290921:E87Q|.	E|G	-|-	1|2	0|0	CTBP1|CTBP1	1212068|1212068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.739000|5.739000	0.68622|0.68622	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CTBP1	-	pfam_D-isomer_2_OHA_DH_cat_dom		0.587	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	HGNC	protein_coding	OTTHUMT00000202938.1	C	NM_001328		1222068	-1	no_errors	ENST00000290921	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1222068	C	G	1222068	3	3	117	1	0	0	0	0	1	0	0	0	4002	864	30	1	1091	1	CTBP1	4	1222068	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		1222068	189932208	310	17778										
FAM193A	8603	genome.wustl.edu	37	chr4	2701497	2701497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcggcgggaggaggaggagGatgaggaagaagaggaggat	24	2	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:2701497G>A	ENST00000324666.5	+	17	3076	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N	FAM193A_ENST00000505311.1_Missense_Mutation_p.D909N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D909N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D931N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D909N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	909	Glu-rich.									NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ggaggaggaggatgaggaaga	0.572																																																	0													28	29	29					4																	2701497		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2725G>A	4.37:g.2701497G>A	ENSP00000324587:p.Asp909Asn		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.D909N	ENST00000324666.5	37	c.2725	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029811	0.08101	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.30182	1.54;1.96;1.54;1.54;1.54	2.71	0.881	0.19166	.	.	.	.	.	T	0.16811	0.0404	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.009;0.009;0.003;0.003	B;B;B;B;B	0.18871	0.023;0.014;0.023;0.014;0.014	T	0.29181	-1.0020	9	0.25751	T	0.34	-1.5774	8.716	0.34411	0.0:0.386:0.614:0.0	.	909;931;909;931;909	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	909;909;909;931;763	ENSP00000372290:D909N;ENSP00000324587:D909N;ENSP00000443617:D909N;ENSP00000427505:D931N;ENSP00000427260:D763N	ENSP00000324587:D909N	D	+	1	0	FAM193A	2671295	0.985000	0.35326	0.002000	0.10522	0.421000	0.31385	1.884000	0.39668	0.198000	0.20407	0.650000	0.86243	GAT	FAM193A	-	NULL		0.572	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2701497	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	0.012	A	A	2701497	G	A	2701497	3	1	117	1	0	0	0	0	1	0	0	0	5539	1174	41	1	2783	1	FAM193A	4	2701497	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1479429	2701497	188452779	311	17779										
ADD1	118	genome.wustl.edu	37	chr4	2877727	2877727	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaggtacttcgaccgagtaGatgagaacaacccagagtac	11	9	0	4	rs374139420		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:2877727G>C	ENST00000398129.1	+	1	105	c.85G>C	c.(85-87)Gat>Cat	p.D29H	ADD1_ENST00000398123.2_Missense_Mutation_p.D29H|ADD1_ENST00000503455.2_Missense_Mutation_p.D29H|ADD1_ENST00000398125.1_Missense_Mutation_p.D29H|ADD1_ENST00000355842.3_Missense_Mutation_p.D29H|ADD1_ENST00000446856.1_Missense_Mutation_p.D29H|ADD1_ENST00000264758.7_Missense_Mutation_p.D29H|ADD1_ENST00000513328.2_Missense_Mutation_p.D29H			P35611	ADDA_HUMAN	adducin 1 (alpha)	29					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGACCGAGTAGATGAGAACAA	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													141	138	139					4																	2877727		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.85G>C	4.37:g.2877727G>C	ENSP00000381197:p.Asp29His		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D29H	ENST00000398129.1	37	c.85	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538629	0.85917	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.983;0.983;1.0;0.994;0.998;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.942;0.914;0.999;0.96;0.987;0.999;0.957	T	0.61950	-0.6957	10	0.72032	D	0.01	-14.2703	18.4459	0.90683	0.0:0.0:1.0:0.0	.	29;29;29;29;29;29;29	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	29	ENSP00000264758:D29H;ENSP00000399828:D29H;ENSP00000381193:D29H;ENSP00000421918:D29H;ENSP00000421907:D29H;ENSP00000426700:D29H;ENSP00000423024:D29H;ENSP00000348100:D29H;ENSP00000381191:D29H;ENSP00000381197:D29H	ENSP00000264758:D29H	D	+	1	0	ADD1	2847525	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.356000	0.97091	2.597000	0.87782	0.591000	0.81541	GAT	ADD1	-	NULL		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	G	NM_014189		2877727	1	no_errors	ENST00000264758	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2877727	G	C	2877727	3	2	117	1	0	0	0	0	1	0	0	0	304	942	33	1	87	1	ADD1	4	2877727	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	176230	2877727	188276549	312	17780										
ADD1	118	genome.wustl.edu	37	chr4	2886385	2886385	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtctcagcttatctacaatCatatcacagtgagtattaaa	6	8	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:2886385C>G	ENST00000398129.1	+	3	522	c.502C>G	c.(502-504)Cat>Gat	p.H168D	ADD1_ENST00000398123.2_Missense_Mutation_p.H168D|ADD1_ENST00000503455.2_Missense_Mutation_p.H168D|ADD1_ENST00000398125.1_Missense_Mutation_p.H168D|ADD1_ENST00000355842.3_Missense_Mutation_p.H168D|ADD1_ENST00000446856.1_Missense_Mutation_p.H168D|ADD1_ENST00000264758.7_Missense_Mutation_p.H168D|ADD1_ENST00000513328.2_Missense_Mutation_p.H168D			P35611	ADDA_HUMAN	adducin 1 (alpha)	168					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TATCTACAATCATATCACAGT	0.398																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													175	175	175					4																	2886385		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.502C>G	4.37:g.2886385C>G	ENSP00000381197:p.His168Asp		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.H168D	ENST00000398129.1	37	c.502	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949625	0.92660	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.33	5.33	0.75918	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.98542	4.26	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.966;0.966;0.996;0.966;0.995;0.996;0.992	P;P;D;P;P;D;D	0.85130	0.845;0.845;0.997;0.845;0.897;0.99;0.937	T	0.82444	-0.0454	10	0.87932	D	0	-28.3184	19.215	0.93772	0.0:1.0:0.0:0.0	.	168;168;168;168;168;168;168	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	D	168	ENSP00000264758:H168D;ENSP00000399828:H168D;ENSP00000381193:H168D;ENSP00000421907:H168D;ENSP00000423024:H168D;ENSP00000348100:H168D;ENSP00000381191:H168D;ENSP00000381197:H168D	ENSP00000264758:H168D	H	+	1	0	ADD1	2856183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.736000	0.68597	2.777000	0.95525	0.655000	0.94253	CAT	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.398	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2886385	1	no_errors	ENST00000264758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2886385	C	G	2886385	3	3	117	1	0	0	0	0	1	0	0	0	304	826	29	1	512	1	ADD1	4	2886385	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8658	2886385	188267891	313	17781										
MSX1	4487	genome.wustl.edu	37	chr4	4864729	4864729	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcggcctctccttccctctCggcggccccgcagctgtagc	10	19	2	0	rs570138459		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:4864729C>T	ENST00000382723.4	+	2	1005	c.771C>T	c.(769-771)ctC>ctT	p.L257L	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	257					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTTCCCTCTCGGCGGCCCCG	0.701																																																	0													16	16	16					4																	4864729		2167	4249	6416	SO:0001819	synonymous_variant	4487			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.771C>T	4.37:g.4864729C>T			A0SZU5|A8K3M1|Q96NY4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L257	ENST00000382723.4	37	c.771	CCDS3378.2	4																																																																																			MSX1	-	NULL		0.701	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	C			4864729	1	no_errors	ENST00000382723	ensembl	human	known	70_37	silent	SNP	0.092	T	T	4864729	C	T	4864729	2	4	117	1	0	0	0	0	0	0	0	1	9918	871	31	1		1	MSX1	4	4864729	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1978344	4864729	186289547	314	17782										
KIAA0232	9778	genome.wustl.edu	37	chr4	6882621	6882621	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccagctccacctcggaagaGacaggctcagaaggcggagg	15	12	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:6882621G>C	ENST00000307659.5	+	10	4571	c.4116G>C	c.(4114-4116)gaG>gaC	p.E1372D	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1372D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1372							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCTCGGAAGAGACAGGCTCAG	0.498																																																	0													56	66	63					4																	6882621		1987	4150	6137	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.4116G>C	4.37:g.6882621G>C	ENSP00000303928:p.Glu1372Asp		A7E2D2	Missense_Mutation	SNP	NULL	p.E1372D	ENST00000307659.5	37	c.4116	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.682236	0.00745	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.37	3.65	0.41850	.	0.203180	0.34002	N	0.004348	T	0.10680	0.0261	N	0.01352	-0.895	0.19300	N	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.34775	-0.9815	9	0.02654	T	1	-20.9221	9.4038	0.38449	0.0:0.7726:0.15:0.0774	.	1372	Q92628	K0232_HUMAN	D	1372	.	ENSP00000303928:E1372D	E	+	3	2	KIAA0232	6933522	0.988000	0.35896	0.026000	0.17262	0.066000	0.16364	1.177000	0.31969	0.658000	0.30925	-1.083000	0.02208	GAG	KIAA0232	-	NULL		0.498	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	G	NM_014743		6882621	1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	0.610	C	C	6882621	G	C	6882621	3	2	117	1	0	0	0	0	1	0	0	0	8183	933	33	1	4146	1	KIAA0232	4	6882621	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2017892	6882621	184271655	315	17783										
C4orf23	152992	genome.wustl.edu	37	chr4	8467278	8467278	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agactgcctcaggattccttCaaccaaaagagtatgtctga	8	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:8467278C>A	ENST00000389737.4	+	8	1484	c.1484C>A	c.(1483-1485)tCa>tAa	p.S495*	TRMT44_ENST00000513449.2_Nonsense_Mutation_p.S254*	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	495					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGGATTCCTTCAACCAAAAGA	0.493																																																	0													79	76	77					4																	8467278		2203	4300	6503	SO:0001587	stop_gained	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1484C>A	4.37:g.8467278C>A	ENSP00000374387:p.Ser495*		Q8NA95	Nonsense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.S495*	ENST00000389737.4	37	c.1484	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	C	39	7.666869	0.98422	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5005	17.6544	0.88174	0.0:1.0:0.0:0.0	.	.	.	.	X	254;495;103	.	ENSP00000285635:S103X	S	+	2	0	METTL19	8518178	1.000000	0.71417	0.440000	0.26846	0.943000	0.58893	6.660000	0.74417	2.370000	0.80446	0.650000	0.86243	TCA	TRMT44	-	NULL		0.493	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	C	NM_152544		8467278	1	no_errors	ENST00000389737	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	8467278	C	A	8467278	4	1	117	1	0	0	0	0	0	1	0	0	2261	838	29	3	1514	3	C4orf23	4	8467278	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1584657	8467278	182686998	316	17784										
PPARGC1A	10891	genome.wustl.edu	37	chr4	23830116	23830116	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttctctgtgggtttggtgtGaggagggtcatcgtttgtgg	18	4	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:23830116G>A	ENST00000264867.2	-	5	783	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	222					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGTTTGGTGTGAGGAGGGTCA	0.473																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													383	346	358					4																	23830116		2203	4300	6503	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.664C>T	4.37:g.23830116G>A	ENSP00000264867:p.His222Tyr		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H222Y	ENST00000264867.2	37	c.664	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243821	0.58995	.	.	ENSG00000109819	ENST00000264867	T	0.24151	1.87	6.17	6.17	0.99709	.	0.103896	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.80722	D	1	P	0.50528	0.936	B	0.42462	0.388	T	0.00867	-1.1534	10	0.54805	T	0.06	-10.9944	20.8794	0.99867	0.0:0.0:1.0:0.0	.	222	Q9UBK2	PRGC1_HUMAN	Y	222	ENSP00000264867:H222Y	ENSP00000264867:H222Y	H	-	1	0	PPARGC1A	23439214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.637000	0.91014	2.941000	0.99782	0.655000	0.94253	CAC	PPARGC1A	-	NULL		0.473	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	G	NM_013261		23830116	-1	no_errors	ENST00000264867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23830116	G	A	23830116	3	1	117	1	0	0	0	0	1	0	0	0	12324	1290	45	1	1768	1	PPARGC1A	4	23830116	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	15362838	23830116	167324160	317	17785										
NIPAL1	152519	genome.wustl.edu	37	chr4	48037979	48037979	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggagatatcattgggaccctGagtggattcttcactattat	10	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398																																																	0													167	152	157					4																	48037979		2203	4300	6503	SO:0001819	synonymous_variant	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1023G>C	4.37:g.48037979G>C			B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.L341	ENST00000295461.5	37	c.1023	CCDS3479.1	4																																																																																			NIPAL1	-	pfam_Mg_trans_NIPA		0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	G	NM_207330		48037979	1	no_errors	ENST00000295461	ensembl	human	known	70_37	silent	SNP	1.000	C	C	48037979	G	C	48037979	2	2	117	1	0	0	0	0	0	0	0	1	10448	1277	45	1		1	NIPAL1	4	48037979	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	24207863	48037979	143116297	318	17786										
CWH43	80157	genome.wustl.edu	37	chr4	48996776	48996776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggtttttggagaagtctctCttgtttccagatgggcagtg	14	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:48996776C>G	ENST00000226432.4	+	5	835	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	CWH43_ENST00000513409.1_Missense_Mutation_p.L191V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	218					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGAAGTCTCTCTTGTTTCCAG	0.542																																																	0													113	107	109					4																	48996776		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.652C>G	4.37:g.48996776C>G	ENSP00000226432:p.Leu218Val		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.L218V	ENST00000226432.4	37	c.652	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822353	0.32237	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.41065	1.56;1.01	4.8	3.92	0.45320	.	0.151461	0.30311	N	0.009917	T	0.33030	0.0849	L	0.48362	1.52	0.28817	N	0.897911	B	0.23185	0.081	B	0.24006	0.05	T	0.18935	-1.0321	9	.	.	.	.	8.2301	0.31593	0.1606:0.7573:0.0:0.0821	.	218	Q9H720	PG2IP_HUMAN	V	218;191	ENSP00000226432:L218V;ENSP00000422802:L191V	.	L	+	1	0	CWH43	48691533	0.727000	0.28069	0.997000	0.53966	0.957000	0.61999	1.070000	0.30653	1.303000	0.44873	0.655000	0.94253	CTT	CWH43	-	NULL		0.542	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	C	NM_025087		48996776	1	no_errors	ENST00000226432	ensembl	human	known	70_37	missense	SNP	0.990	G	G	48996776	C	G	48996776	3	3	117	1	0	0	0	0	1	0	0	0	4078	913	32	1	670	1	CWH43	4	48996776	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	958797	48996776	142157500	319	17787										
SCFD2	152579	genome.wustl.edu	37	chr4	54231379	54231379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagatccgcagcgatgacctGacttaaggaacctacagcaa	9	12	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:54231379G>C	ENST00000401642.3	-	1	863	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	SCFD2_ENST00000388940.4_Missense_Mutation_p.Q244E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	244					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGATGACCTGACTTAAGGAA	0.517																																																	0													144	133	137					4																	54231379		2203	4300	6503	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.730C>G	4.37:g.54231379G>C	ENSP00000384182:p.Gln244Glu		Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.Q244E	ENST00000401642.3	37	c.730	CCDS33984.1	4	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954184	0.34471	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78126	-1.15;-1.15	5.51	5.51	0.81932	.	0.111641	0.64402	D	0.000007	T	0.58352	0.2116	N	0.02916	-0.46	0.27707	N	0.945603	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52953	-0.8506	10	0.42905	T	0.14	.	16.9624	0.86275	0.0:0.0:1.0:0.0	.	244;244	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	244	ENSP00000384182:Q244E;ENSP00000373592:Q244E	ENSP00000373592:Q244E	Q	-	1	0	SCFD2	53926136	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	5.475000	0.66787	2.873000	0.98535	0.561000	0.74099	CAG	SCFD2	-	NULL		0.517	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	G	NM_152540		54231379	-1	no_errors	ENST00000401642	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54231379	G	C	54231379	3	2	117	1	0	0	0	0	1	0	0	0	13920	1299	45	1	1360	1	SCFD2	4	54231379	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5234603	54231379	136922897	320	17788										
PDGFRA	5156	genome.wustl.edu	37	chr4	55143649	55143649	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcatgaaagttgcagtgaaGatgctaaaacgtaagtgctc	11	6	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:55143649G>C	ENST00000257290.5	+	13	2212	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K387N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTGCAGTGAAGATGCTAAAAC	0.478			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0													120	120	120					4																	55143649		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1881G>C	4.37:g.55143649G>C	ENSP00000257290:p.Lys627Asn		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.K627N	ENST00000257290.5	37	c.1881	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246462	0.59103	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.97906	-4.6;-4.6	5.63	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33346	U	0.005008	D	0.98614	0.9536	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98708	1.0703	10	0.87932	D	0	.	3.6671	0.08260	0.3418:0.0:0.6582:0.0	.	627;627	P16234-3;P16234	.;PGFRA_HUMAN	N	387;627	ENSP00000423325:K387N;ENSP00000257290:K627N	ENSP00000423325:K387N	K	+	3	2	FIP1L1;PDGFRA	54838406	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	2.694000	0.47035	2.669000	0.90835	0.655000	0.94253	AAG	PDGFRA	-	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,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	G	NM_006206		55143649	1	no_errors	ENST00000257290	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55143649	G	C	55143649	3	2	117	1	0	0	0	0	1	0	0	0	11685	933	33	1	1927	1	PDGFRA	4	55143649	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	912270	55143649	136010627	321	17789										
KIT	3815	genome.wustl.edu	37	chr4	55595645	55595645	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttctgcattcaaaggagtCttcctggtaagactgattta	8	8	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:55595645C>T	ENST00000288135.5	+	14	2232	c.2135C>T	c.(2134-2136)tCt>tTt	p.S712F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAAGGAGTCTTCCTGGTAA	0.353		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													96	103	101					4																	55595645		2203	4300	6503	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2135C>T	4.37:g.55595645C>T	ENSP00000288135:p.Ser712Phe		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S712F	ENST00000288135.5	37	c.2135	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	C	3.247	-0.154179	0.06585	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.79352	-1.26;-1.26	6.06	4.32	0.51571	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.003690	0.08022	N	0.992141	T	0.79034	0.4378	L	0.58510	1.815	0.09310	N	1	B;B;P	0.41232	0.215;0.419;0.743	B;B;P	0.49387	0.027;0.308;0.609	T	0.64786	-0.6325	10	0.27785	T	0.31	.	5.5016	0.16831	0.1436:0.6463:0.0:0.2101	.	219;708;712	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	F	712;708	ENSP00000288135:S712F;ENSP00000390987:S708F	ENSP00000288135:S712F	S	+	2	0	KIT	55290402	0.000000	0.05858	0.403000	0.26384	0.219000	0.24729	0.901000	0.28445	1.565000	0.49641	0.655000	0.94253	TCT	KIT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.353	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	C			55595645	1	no_errors	ENST00000288135	ensembl	human	known	70_37	missense	SNP	0.002	T	T	55595645	C	T	55595645	3	4	117	1	0	0	0	0	1	0	0	0	8349	913	32	1	2189	1	KIT	4	55595645	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	451996	55595645	135558631	322	17790										
CEP135	9662	genome.wustl.edu	37	chr4	56820461	56820461	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaccaatatgctcataaactCaaactgttggagaaagagag	8	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:56820461C>G	ENST00000257287.4	+	4	508	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CEP135_ENST00000422247.2_Silent_p.L128L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	128					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTCATAAACTCAAACTGTTGG	0.328																																																	0													69	68	68					4																	56820461		2203	4300	6503	SO:0001819	synonymous_variant	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.384C>G	4.37:g.56820461C>G			B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	superfamily_Prefoldin	p.L128	ENST00000257287.4	37	c.384	CCDS33986.1	4																																																																																			CEP135	-	NULL		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56820461	1	no_errors	ENST00000257287	ensembl	human	known	70_37	silent	SNP	0.971	G	G	56820461	C	G	56820461	2	3	117	1	0	0	0	0	0	0	0	1	3252	813	29	1		1	CEP135	4	56820461	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1224816	56820461	134333815	323	17791										
SRP72	6731	genome.wustl.edu	37	chr4	57344554	57344554	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctttctcttaggatgggactGaggaagacccacaggcagaa	12	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:57344554G>A	ENST00000342756.5	+	7	1373	c.652G>A	c.(652-654)Gag>Aag	p.E218K	SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	218					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GGATGGGACTGAGGAAGACCC	0.403																																																	0													53	52	52					4																	57344554		2203	4300	6503	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.652G>A	4.37:g.57344554G>A	ENSP00000342181:p.Glu218Lys		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E218K	ENST00000342756.5	37	c.652	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.203659	0.95033	.	.	ENSG00000174780	ENST00000342756;ENST00000505314	T	0.76578	-1.03	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.977;1.0	D;D	0.87578	0.98;0.998	D	0.89892	0.4038	10	0.46703	T	0.11	.	16.0235	0.80516	0.0:0.0:1.0:0.0	.	218;218	Q86X80;O76094	.;SRP72_HUMAN	K	218;23	ENSP00000342181:E218K	ENSP00000342181:E218K	E	+	1	0	SRP72	57039311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.360000	0.80028	0.650000	0.86243	GAG	SRP72	-	NULL		0.403	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	G			57344554	1	no_errors	ENST00000342756	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57344554	G	A	57344554	3	1	117	1	0	0	0	0	1	0	0	0	15187	1291	45	1	678	1	SRP72	4	57344554	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	524093	57344554	133809722	324	17792										
SRP72	6731	genome.wustl.edu	37	chr4	57354143	57354143	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctaaagcatgtctaatattGagaagcatagaggagttaaa	9	4	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:57354143G>C	ENST00000342756.5	+	12	1909	c.1188G>C	c.(1186-1188)ttG>ttC	p.L396F	SRP72_ENST00000510663.1_Missense_Mutation_p.L335F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	396					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GTCTAATATTGAGAAGCATAG	0.259																																																	0													55	57	57					4																	57354143		2196	4290	6486	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1188G>C	4.37:g.57354143G>C	ENSP00000342181:p.Leu396Phe		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L396F	ENST00000342756.5	37	c.1188	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976798	0.53720	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.37411	1.2;1.2	4.91	3.17	0.36434	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.86740	2.835	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.986;0.976	T	0.57539	-0.7794	10	0.49607	T	0.09	.	7.6065	0.28105	0.1652:0.1382:0.6966:0.0	.	335;396;396	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	F	396;341;335;157	ENSP00000342181:L396F;ENSP00000424576:L335F	ENSP00000342181:L396F	L	+	3	2	SRP72	57048900	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.554000	0.53720	0.366000	0.24427	-0.813000	0.03139	TTG	SRP72	-	NULL		0.259	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	G			57354143	1	no_errors	ENST00000342756	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57354143	G	C	57354143	3	2	117	1	0	0	0	0	1	0	0	0	15187	1281	45	1	1234	1	SRP72	4	57354143	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9589	57354143	133800133	325	17793										
POLR2B	5431	genome.wustl.edu	37	chr4	57891674	57891674	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggggacctattcagatcctCaatagacagcccatggaggg	12	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:57891674C>T	ENST00000381227.1	+	24	3623	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	POLR2B_ENST00000441246.2_Silent_p.L1063L|POLR2B_ENST00000314595.5_Silent_p.L1070L|POLR2B_ENST00000431623.2_Silent_p.L995L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1070					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCAGATCCTCAATAGACAGC	0.378																																																	0													101	95	97					4																	57891674		2203	4300	6503	SO:0001819	synonymous_variant	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3210C>T	4.37:g.57891674C>T			A8K1A8|Q8IZ61	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.L1070	ENST00000381227.1	37	c.3210	CCDS3511.1	4																																																																																			POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6		0.378	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	C	NM_000938		57891674	1	no_errors	ENST00000314595	ensembl	human	known	70_37	silent	SNP	0.957	T	T	57891674	C	T	57891674	2	4	117	1	0	0	0	0	0	0	0	1	12239	813	29	1		1	POLR2B	4	57891674	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	537531	57891674	133262602	326	17794										
LPHN3	23284	genome.wustl.edu	37	chr4	62761478	62761478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttatctatgccttgctcctGatggaatttgggatccccaa	8	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:62761478G>T	ENST00000514591.1	+	10	1938	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	LPHN3_ENST00000509896.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.D537Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D605Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	537					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTGCTCCTGATGGAATTTG	0.368																																																	0													86	82	83					4																	62761478		1835	4090	5925	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1609G>T	4.37:g.62761478G>T	ENSP00000422533:p.Asp537Tyr		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D605Y	ENST00000514591.1	37	c.1813	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.584167|1.584167	0.28268|0.28268	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71103|.	-0.52;-0.52;-0.54;-0.54;-0.52;-0.52;-0.53;-0.53;-0.53;-0.52;-0.52;-0.51;-0.52;-0.52;-0.51|.	5.39|5.39	4.54|4.54	0.55810|0.55810	.|.	0.427515|.	0.23371|.	N|.	0.048913|.	T|.	0.45637|.	0.1352|.	L|L	0.29908|0.29908	0.895|0.895	0.36230|0.36230	D|D	0.852568|0.852568	B;B|.	0.24768|.	0.111;0.091|.	B;B|.	0.24974|.	0.057;0.048|.	T|.	0.49698|.	-0.8912|.	10|.	0.59425|.	D|.	0.04|.	.|.	9.6467|9.6467	0.39872|0.39872	0.1607:0.0:0.8393:0.0|0.1607:0.0:0.8393:0.0	.|.	537;537|.	E9PE04;Q9HAR2-2|.	.;.|.	Y|L	537;537;605;605;537;537;537;537;537;605;605;605;537;537;537;605;605;537|7	ENSP00000423388:D537Y;ENSP00000422533:D537Y;ENSP00000423787:D605Y;ENSP00000425033:D605Y;ENSP00000424120:D537Y;ENSP00000439831:D537Y;ENSP00000421476:D605Y;ENSP00000424030:D605Y;ENSP00000421372:D605Y;ENSP00000425201:D537Y;ENSP00000423434:D537Y;ENSP00000421627:D537Y;ENSP00000420931:D605Y;ENSP00000425884:D605Y;ENSP00000424258:D537Y|.	ENSP00000280009:D537Y|.	D|X	+|+	1|2	0|2	LPHN3|LPHN3	62444073|62444073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.098000|4.098000	0.57748|0.57748	2.526000|2.526000	0.85167|0.85167	0.563000|0.563000	0.77884|0.77884	GAT|TGA	LPHN3	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.368	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62761478	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62761478	G	T	62761478	3	4	117	1	0	0	0	0	1	0	0	0	8940	1290	45	3	1639	3	LPHN3	4	62761478	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4869804	62761478	128392798	327	17795										
LPHN3	23284	genome.wustl.edu	37	chr4	62845482	62845482	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgattgggatcaaccgaactGaccaaccagtaagcaaccta	8	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:62845482G>A	ENST00000514591.1	+	17	3132	c.2803G>A	c.(2803-2805)Gac>Aac	p.D935N	LPHN3_ENST00000509896.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000514157.1_Missense_Mutation_p.D935N|LPHN3_ENST00000545650.1_Missense_Mutation_p.D935N|LPHN3_ENST00000506746.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000506720.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000504896.1_Missense_Mutation_p.D935N|LPHN3_ENST00000507164.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000514996.1_Missense_Mutation_p.D935N|LPHN3_ENST00000508946.1_Missense_Mutation_p.D935N|LPHN3_ENST00000507625.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000511324.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000512091.2_Missense_Mutation_p.D935N|LPHN3_ENST00000506700.1_Missense_Mutation_p.D935N|LPHN3_ENST00000508693.1_Missense_Mutation_p.D1003N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	922					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAACCGAACTGACCAACCAGT	0.443																																																	0													117	112	114					4																	62845482		2002	4201	6203	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2803G>A	4.37:g.62845482G>A	ENSP00000422533:p.Asp935Asn		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D1003N	ENST00000514591.1	37	c.3007	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687601	0.68157	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	N	0.25332	0.735	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.995	T	0.34428	-0.9829	10	0.29301	T	0.29	.	19.0068	0.92854	0.0:0.0:1.0:0.0	.	935;922;935	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	N	935;935;1003;1003;935;935;922;935;1003;1003;1003;935;935;935;1003;1003;935	ENSP00000423388:D935N;ENSP00000422533:D935N;ENSP00000423787:D1003N;ENSP00000425033:D1003N;ENSP00000424120:D935N;ENSP00000439831:D935N;ENSP00000421476:D1003N;ENSP00000424030:D1003N;ENSP00000421372:D1003N;ENSP00000425201:D935N;ENSP00000423434:D935N;ENSP00000421627:D935N;ENSP00000420931:D1003N;ENSP00000425884:D1003N;ENSP00000424258:D935N	ENSP00000280009:D935N	D	+	1	0	LPHN3	62528077	1.000000	0.71417	0.995000	0.50966	0.489000	0.33432	7.777000	0.85628	2.580000	0.87095	0.467000	0.42956	GAC	LPHN3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.443	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62845482	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	0.999	A	A	62845482	G	A	62845482	3	1	117	1	0	0	0	0	1	0	0	0	8940	1290	45	1	2861	1	LPHN3	4	62845482	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	84004	62845482	128308794	328	17796										
TMPRSS11F	389208	genome.wustl.edu	37	chr4	68925067	68925067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acatgcatctatttttccttCcatgaatccagcacataaca	3	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:68925067C>T	ENST00000356291.2	-	9	1194	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	379	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATTTTTCCTTCCATGAATCCA	0.388																																																	0													189	166	174					4																	68925067		2203	4300	6503	SO:0001583	missense	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1135G>A	4.37:g.68925067C>T	ENSP00000348639:p.Glu379Lys		A8MXX2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E379K	ENST00000356291.2	37	c.1135	CCDS3520.1	4	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489870	0.64074	.	.	ENSG00000198092	ENST00000356291	D	0.93019	-3.15	5.43	5.43	0.79202	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000046	D	0.94105	0.8110	L	0.43923	1.385	0.31561	N	0.657558	D	0.67145	0.996	D	0.72338	0.977	D	0.91658	0.5340	10	0.23302	T	0.38	.	12.4515	0.55679	0.0:0.8311:0.1689:0.0	.	379	Q6ZWK6	TM11F_HUMAN	K	379	ENSP00000348639:E379K	ENSP00000348639:E379K	E	-	1	0	TMPRSS11F	68607662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.343000	0.44001	2.545000	0.85829	0.591000	0.81541	GAA	TMPRSS11F	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6		0.388	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11F	HGNC	protein_coding	OTTHUMT00000251439.1	C	NM_207407		68925067	-1	no_errors	ENST00000356291	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68925067	C	T	68925067	3	4	117	1	0	0	0	0	1	0	0	0	16273	864	30	1	189	1	TMPRSS11F	4	68925067	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6079585	68925067	122229209	329	17797										
UGT2B28	54490	genome.wustl.edu	37	chr4	70160416	70160416	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtaccactctttggatgtGattgggtttctgctggcctg	12	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:70160416G>C	ENST00000335568.5	+	6	1481	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	493					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTGGATGTGATTGGGTTTC	0.463																																																	0													94	101	98					4																	70160416		2047	4236	6283	SO:0001819	synonymous_variant	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1479G>C	4.37:g.70160416G>C			B5BUM0|Q9BY62|Q9BY63	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V493	ENST00000335568.5	37	c.1479	CCDS3528.1	4																																																																																			UGT2B28	-	pfam_UDP_glucos_trans		0.463	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	HGNC	protein_coding	OTTHUMT00000251557.2	G	NM_053039		70160416	1	no_errors	ENST00000335568	ensembl	human	known	70_37	silent	SNP	0.998	C	C	70160416	G	C	70160416	2	2	117	1	0	0	0	0	0	0	0	1	16991	1277	45	1		1	UGT2B28	4	70160416	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1235349	70160416	120993860	330	17798										
RUFY3	22902	genome.wustl.edu	37	chr4	71659536	71659536	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcgaagccgccaatctgctGagttggacaaccggctcttc	11	13	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:71659536G>C	ENST00000226328.4	+	0	4233				RUFY3_ENST00000502653.1_Missense_Mutation_p.E405Q|RUFY3_ENST00000381006.3_Missense_Mutation_p.E458Q	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCAATCTGCTGAGTTGGACAA	0.527																																																	0													51	49	50					4																	71659536		2203	4300	6503	SO:0001628	intergenic_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71659536G>C			B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run	p.E458Q	ENST00000226328.4	37	c.1372	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079565	0.55753	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.10477	2.88;2.87	5.88	5.88	0.94601	.	0.504809	0.21611	N	0.071790	T	0.11281	0.0275	.	.	.	0.80722	D	1	B	0.18610	0.029	B	0.19946	0.027	T	0.11690	-1.0577	9	0.33940	T	0.23	-1.2845	16.6749	0.85276	0.0:0.1379:0.8621:0.0	.	458	Q7L099-3	.	Q	458;405	ENSP00000370394:E458Q;ENSP00000425400:E405Q	ENSP00000370394:E458Q	E	+	1	0	RUFY3	71878400	0.995000	0.38212	0.997000	0.53966	0.996000	0.88848	2.302000	0.43637	2.780000	0.95670	0.655000	0.94253	GAG	RUFY3	-	NULL		0.527	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	G	NM_014961		71659536	1	no_errors	ENST00000381006	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	71659536	G	C	71659536	1	2	117	0	1	0	0	0	0	0	0	0	13770	1291	45	1		1	RUFY3	4	71659536	IGR	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1499120	71659536	119494740	331	17799										
GRSF1	2926	genome.wustl.edu	37	chr4	71697314	71697314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttggccatttctggttcttCaaattgcacataggcttccc	8	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:71697314C>T	ENST00000254799.6	-	5	1009	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	GRSF1_ENST00000439371.1_Missense_Mutation_p.E136K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E180K|GRSF1_ENST00000502323.1_Missense_Mutation_p.E136K|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	298	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCTGGTTCTTCAAATTGCACA	0.403																																																	0													140	128	132					4																	71697314		1856	4099	5955	SO:0001583	missense	2926			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.892G>A	4.37:g.71697314C>T	ENSP00000254799:p.Glu298Lys		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E298K	ENST00000254799.6	37	c.892	CCDS47069.1	4	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578427	0.65878	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.519574	0.22094	N	0.064706	T	0.06917	0.0176	N	0.11673	0.155	0.35745	D	0.819012	B;P	0.49185	0.411;0.92	B;B	0.44315	0.237;0.446	T	0.49661	-0.8916	10	0.17832	T	0.49	-6.5903	18.8672	0.92298	0.0:1.0:0.0:0.0	.	211;298	B7Z5F9;Q12849	.;GRSF1_HUMAN	K	298;136;230;271;136;180	ENSP00000254799:E298K;ENSP00000389219:E136K;ENSP00000427354:E271K;ENSP00000425430:E136K;ENSP00000443380:E180K	ENSP00000254799:E298K	E	-	1	0	GRSF1	71916178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.239000	0.43079	2.681000	0.91329	0.579000	0.79373	GAA	GRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.403	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GRSF1	HGNC	protein_coding	OTTHUMT00000362642.1	C	NM_002092		71697314	-1	no_errors	ENST00000254799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71697314	C	T	71697314	3	4	117	1	0	0	0	0	1	0	0	0	6829	835	29	1	570	1	GRSF1	4	71697314	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	37778	71697314	119456962	332	17800										
ALB	213	genome.wustl.edu	37	chr4	74282030	74282030	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atttaatcaaacaaaattgtGagctttttgagcagcttgga	8	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:74282030G>A	ENST00000503124.1	+	8	1006	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ALB_ENST00000415165.2_Missense_Mutation_p.E225K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.E417K|ALB_ENST00000295897.4_Missense_Mutation_p.E417K|ALB_ENST00000401494.3_Missense_Mutation_p.E302K			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAAAATTGTGAGCTTTTTGA	0.289																																																	0													60	61	60					4																	74282030		2203	4300	6503	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.799G>A	4.37:g.74282030G>A	ENSP00000421027:p.Glu267Lys		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin	p.E417K	ENST00000503124.1	37	c.1249		4	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699336	0.48307	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.98	5.13	0.70059	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.665350	0.15613	N	0.253289	T	0.75910	0.3914	L	0.48986	1.54	0.41425	D	0.987827	P;P;P;P;P	0.47910	0.902;0.62;0.777;0.576;0.576	P;P;P;B;B	0.51806	0.527;0.482;0.68;0.366;0.366	T	0.77480	-0.2572	10	0.72032	D	0.01	-12.9919	15.8292	0.78739	0.0:0.1363:0.8637:0.0	.	302;225;267;417;417	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	K	417;225;204;267;417;302;426	ENSP00000295897:E417K;ENSP00000401820:E225K;ENSP00000421027:E267K;ENSP00000422784:E417K;ENSP00000384695:E302K	ENSP00000295897:E417K	E	+	1	0	ALB	74500894	1.000000	0.71417	0.991000	0.47740	0.258000	0.26162	5.538000	0.67193	1.498000	0.48600	0.591000	0.81541	GAG	ALB	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.289	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	ALB	HGNC	protein_coding	OTTHUMT00000365419.1	G	NM_000477		74282030	1	no_errors	ENST00000295897	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74282030	G	A	74282030	3	1	117	1	0	0	0	0	1	0	0	0	486	1291	45	1	1287	1	ALB	4	74282030	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2584716	74282030	116872246	333	17801										
CDKL2	8999	genome.wustl.edu	37	chr4	76529028	76529028	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaatctatcaccacttcagaGagcttaggatagcgtctttc	7	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:76529028G>C	ENST00000429927.2	-	6	1471	c.768C>G	c.(766-768)ctC>ctG	p.L256L	CDKL2_ENST00000307465.4_Silent_p.L256L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCACTTCAGAGAGCTTAGGAT	0.348																																																	0													123	126	125					4																	76529028		2203	4300	6503	SO:0001819	synonymous_variant	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.768C>G	4.37:g.76529028G>C			B2R695	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L256	ENST00000429927.2	37	c.768	CCDS3570.1	4																																																																																			CDKL2	-	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		0.348	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	G	NM_003948		76529028	-1	no_errors	ENST00000429927	ensembl	human	known	70_37	silent	SNP	0.998	C	C	76529028	G	C	76529028	2	2	117	1	0	0	0	0	0	0	0	1	3159	929	33	1		1	CDKL2	4	76529028	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2246998	76529028	114625248	334	17802										
NAAA	27163	genome.wustl.edu	37	chr4	76842147	76842147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaaatgtctgctgggccatCtctgttcctcgtgatgacca	9	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:76842147C>G	ENST00000286733.4	-	6	897	c.796G>C	c.(796-798)Gat>Cat	p.D266H	NAAA_ENST00000505594.1_Missense_Mutation_p.D165H|NAAA_ENST00000507956.1_Missense_Mutation_p.D266H|NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000399497.3_Missense_Mutation_p.D266H	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	266					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GCTGGGCCATCTCTGTTCCTC	0.463																																																	0													76	75	76					4																	76842147		1920	4124	6044	SO:0001583	missense	27163			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.796G>C	4.37:g.76842147C>G	ENSP00000286733:p.Asp266His		Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.D266H	ENST00000286733.4	37	c.796	CCDS43239.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.03|12.03	1.816189|1.816189	0.32145|0.32145	.|.	.|.	ENSG00000138744|ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594|ENST00000513045	T;T;T;T|D	0.78816|0.87571	-1.21;-1.21;-1.21;-1.21|-2.27	5.77|5.77	0.342|0.342	0.15996|0.15996	.|.	1.011640|.	0.07894|.	N|.	0.971645|.	T|T	0.77948|0.77948	0.4207|0.4207	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999997|0.999997	B;P|.	0.44877|.	0.036;0.845|.	B;P|.	0.48704|.	0.08;0.587|.	T|T	0.66122|0.66122	-0.6002|-0.6002	10|7	0.45353|0.46703	T|T	0.12|0.11	1.3532|1.3532	5.3445|5.3445	0.16002|0.16002	0.0:0.4724:0.262:0.2655|0.0:0.4724:0.262:0.2655	.|.	165;266|.	B4DVL2;Q02083|.	.;NAAA_HUMAN|.	H|T	266;266;266;165|70	ENSP00000382420:D266H;ENSP00000286733:D266H;ENSP00000427641:D266H;ENSP00000426977:D165H|ENSP00000423397:R70T	ENSP00000286733:D266H|ENSP00000423397:R70T	D|R	-|-	1|2	0|0	NAAA|NAAA	77061171|77061171	0.000000|0.000000	0.05858|0.05858	0.063000|0.063000	0.19743|0.19743	0.565000|0.565000	0.35776|0.35776	-0.395000|-0.395000	0.07287|0.07287	-0.274000|-0.274000	0.09232|0.09232	0.561000|0.561000	0.74099|0.74099	GAT|AGA	NAAA	-	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like		0.463	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAAA	HGNC	protein_coding	OTTHUMT00000362843.4	C			76842147	-1	no_errors	ENST00000286733	ensembl	human	known	70_37	missense	SNP	0.050	G	G	76842147	C	G	76842147	3	3	117	1	0	0	0	0	1	0	0	0	10150	913	32	1	310	1	NAAA	4	76842147	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	313119	76842147	114312129	335	17803										
SDAD1	55153	genome.wustl.edu	37	chr4	76911940	76911940	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggcgggtctcgcttgattaGattctgtaactgcggcaggt	14	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:76911940G>C	ENST00000356260.5	-	1	173	c.55C>G	c.(55-57)Cta>Gta	p.L19V	SDAD1_ENST00000395711.4_Missense_Mutation_p.L19V|RP11-630D6.5_ENST00000501239.2_RNA	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	19					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGCTTGATTAGATTCTGTAAC	0.557																																																	0													114	115	115					4																	76911940		1977	4161	6138	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.55C>G	4.37:g.76911940G>C	ENSP00000348596:p.Leu19Val		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.L19V	ENST00000356260.5	37	c.55	CCDS3573.2	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974287	0.74246	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.74106	-0.81;-0.81	4.94	4.94	0.65067	Armadillo-type fold (1);	0.000000	0.64402	U	0.000007	T	0.71134	0.3304	M	0.81239	2.535	0.53688	D	0.999976	B;P	0.39748	0.398;0.686	B;B	0.38156	0.197;0.266	T	0.67632	-0.5621	10	0.16896	T	0.51	-3.4228	9.1353	0.36870	0.0965:0.0:0.9035:0.0	.	19;19	E7EW05;Q9NVU7	.;SDA1_HUMAN	V	19	ENSP00000348596:L19V;ENSP00000379061:L19V	ENSP00000348596:L19V	L	-	1	2	SDAD1	77130964	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.441000	0.52893	2.559000	0.86315	0.561000	0.74099	CTA	SDAD1	-	superfamily_ARM-type_fold		0.557	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	HGNC	protein_coding	OTTHUMT00000252418.3	G	NM_018115		76911940	-1	no_errors	ENST00000356260	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76911940	G	C	76911940	3	2	117	1	0	0	0	0	1	0	0	0	13980	933	33	1	2096	1	SDAD1	4	76911940	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	69793	76911940	114242336	336	17804										
SHROOM3	57619	genome.wustl.edu	37	chr4	77476856	77476856	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtgactctgagcagctccaGaaaggaggcagtttccctgg	14	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:77476856G>C	ENST00000296043.6	+	2	1216	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	88	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGCAGCTCCAGAAAGGAGGCA	0.577																																																	0													126	112	117					4																	77476856		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.263G>C	4.37:g.77476856G>C	ENSP00000296043:p.Arg88Thr		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R88T	ENST00000296043.6	37	c.263	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246340	0.39697	.	.	ENSG00000138771	ENST00000296043	T	0.26810	1.71	4.69	3.84	0.44239	PDZ/DHR/GLGF (4);	0.500539	0.16886	N	0.195505	T	0.52500	0.1738	M	0.86178	2.8	0.30839	N	0.735881	D	0.89917	1.0	D	0.79784	0.993	T	0.56751	-0.7927	10	0.66056	D	0.02	-10.9104	11.2919	0.49256	0.0871:0.0:0.9129:0.0	.	88	Q8TF72	SHRM3_HUMAN	T	88	ENSP00000296043:R88T	ENSP00000296043:R88T	R	+	2	0	SHROOM3	77695880	1.000000	0.71417	0.701000	0.30321	0.428000	0.31595	7.610000	0.82949	2.532000	0.85374	0.467000	0.42956	AGA	SHROOM3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	G	NM_020859		77476856	1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	0.882	C	C	77476856	G	C	77476856	3	2	117	1	0	0	0	0	1	0	0	0	14325	942	33	1	269	1	SHROOM3	4	77476856	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	564916	77476856	113677420	337	17805										
BMP2K	55589	genome.wustl.edu	37	chr4	79782564	79782564	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attcttctattccttcagctCttcctgaaccgatgactgct	5	13	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:79782564C>G	ENST00000335016.5	+	9	1175	c.1009C>G	c.(1009-1011)Ctt>Gtt	p.L337V	BMP2K_ENST00000502871.1_Missense_Mutation_p.L337V	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	337					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCCTTCAGCTCTTCCTGAACC	0.323																																																	0													61	59	60					4																	79782564		2202	4300	6502	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1009C>G	4.37:g.79782564C>G	ENSP00000334836:p.Leu337Val		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	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.L337V	ENST00000335016.5	37	c.1009	CCDS47083.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.698801|4.698801	0.88830|0.88830	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016|ENST00000502613	T;T|.	0.75704|.	-0.96;-0.88|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Protein kinase-like domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77598|0.77598	0.4154|0.4154	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.987;0.995|.	D;P|.	0.67725|.	0.953;0.833|.	T|T	0.75639|0.75639	-0.3248|-0.3248	10|5	0.54805|.	T|.	0.06|.	-19.1665|-19.1665	19.7037|19.7037	0.96065|0.96065	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337;337|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	V|C	337|29	ENSP00000421768:L337V;ENSP00000334836:L337V|.	ENSP00000334836:L337V|.	L|S	+|+	1|2	0|0	BMP2K|BMP2K	80001588|80001588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.988000|6.988000	0.76212|0.76212	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	CTT|TCT	BMP2K	-	superfamily_Kinase-like_dom		0.323	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		C	NM_017593		79782564	1	no_errors	ENST00000335016	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79782564	C	G	79782564	3	3	117	1	0	0	0	0	1	0	0	0	1461	913	32	1	1043	1	BMP2K	4	79782564	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2305708	79782564	111371712	338	17806										
THAP9	79725	genome.wustl.edu	37	chr4	83827476	83827476	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattttatatatctgtcataGattcctcaaggtgtacatct	5	7	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:83827476G>A	ENST00000302236.5	+	3	327		c.e3-1			NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9						DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCTGTCATAGATTCCTCAAG	0.323																																																	0													63	65	64					4																	83827476		2203	4299	6502	SO:0001630	splice_region_variant	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.277-1G>A	4.37:g.83827476G>A			B3KRE2|Q59AC9	Splice_Site	SNP	-	e3-1	ENST00000302236.5	37	c.277-1	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775746	0.16051	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3242	0.49440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THAP9	84046500	1.000000	0.71417	0.616000	0.29078	0.344000	0.29017	3.867000	0.56047	2.371000	0.80710	0.591000	0.81541	.	THAP9	-	-		0.323	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672	Intron	83827476	1	no_errors	ENST00000302236	ensembl	human	known	70_37	splice_site	SNP	0.748	A	A	83827476	G	A	83827476	5	1	117	1	0	0	0	0	0	0	1	0	15881	956	33	1	286	1	THAP9	4	83827476	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4044912	83827476	107326800	339	17807			3	79		3	3	272	G		7.379927e-05
THAP9	79725	genome.wustl.edu	37	chr4	83827621	83827621	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taggtgcagagaaactggctGaggtgcaacaaatgttacaa	12	6	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:83827621G>C	ENST00000302236.5	+	3	472	c.421G>C	c.(421-423)Gag>Cag	p.E141Q		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	141					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAACTGGCTGAGGTGCAACA	0.388																																																	0													107	101	103					4																	83827621		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.421G>C	4.37:g.83827621G>C	ENSP00000305533:p.Glu141Gln		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E141Q	ENST00000302236.5	37	c.421	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713588	0.48517	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.39406	1.08	3.73	3.73	0.42828	.	0.960887	0.08558	N	0.927867	T	0.48295	0.1492	N	0.22421	0.69	0.27632	N	0.948005	D	0.71674	0.998	D	0.75484	0.986	T	0.36866	-0.9730	10	0.20519	T	0.43	-18.3357	11.3242	0.49440	0.0:0.0:1.0:0.0	.	141	Q9H5L6	THAP9_HUMAN	Q	141	ENSP00000305533:E141Q	ENSP00000305533:E141Q	E	+	1	0	THAP9	84046645	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	3.755000	0.55197	2.371000	0.80710	0.591000	0.81541	GAG	THAP9	-	NULL		0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827621	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.998	C	C	83827621	G	C	83827621	3	2	117	1	0	0	0	0	1	0	0	0	15881	1291	45	1	431	1	THAP9	4	83827621	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	145	83827621	107326655	340	17808			3	79		3	3	272	G		7.379927e-05
THAP9	79725	genome.wustl.edu	37	chr4	83827747	83827747	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagagaaactactttctgaaGaaacagagtgtctgctacga	9	7	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:83827747G>A	ENST00000302236.5	+	3	598	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	183					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACTTTCTGAAGAAACAGAGTG	0.353																																																	0													58	60	59					4																	83827747		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.547G>A	4.37:g.83827747G>A	ENSP00000305533:p.Glu183Lys		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E183K	ENST00000302236.5	37	c.547	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173064	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.40476	1.03	3.87	3.87	0.44632	.	0.285900	0.25316	N	0.031545	T	0.42988	0.1227	L	0.27053	0.805	0.30366	N	0.783303	D	0.63880	0.993	D	0.70227	0.968	T	0.15178	-1.0446	10	0.06494	T	0.89	-24.9607	11.6369	0.51209	0.0:0.0:1.0:0.0	.	183	Q9H5L6	THAP9_HUMAN	K	183	ENSP00000305533:E183K	ENSP00000305533:E183K	E	+	1	0	THAP9	84046771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.989000	0.56958	2.459000	0.83118	0.591000	0.81541	GAA	THAP9	-	NULL		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827747	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83827747	G	A	83827747	3	1	117	1	0	0	0	0	1	0	0	0	15881	943	33	1	557	1	THAP9	4	83827747	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	126	83827747	107326529	341	17809			3	79		3	3	272	G		7.379927e-05
HELQ	113510	genome.wustl.edu	37	chr4	84350794	84350794	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtcaggtatctaagtgattCaacagttatttcccagagac	8	8	3	2	rs375130293		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:84350794C>T	ENST00000295488.3	-	12	2563	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	HELQ_ENST00000510985.1_Missense_Mutation_p.E734K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	801					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTAAGTGATTCAACAGTTATT	0.318								Other identified genes with known or suspected DNA repair function																																									0													75	72	73					4																	84350794		2201	4298	6499	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2401G>A	4.37:g.84350794C>T	ENSP00000295488:p.Glu801Lys		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E801K	ENST00000295488.3	37	c.2401	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807186	0.16467	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.42513	0.97;0.97	5.22	4.18	0.49190	.	0.457213	0.24398	N	0.038877	T	0.30324	0.0761	N	0.24115	0.695	0.24015	N	0.996167	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.004	T	0.14200	-1.0481	10	0.34782	T	0.22	-4.7878	14.6713	0.68945	0.0:0.9171:0.0:0.0829	.	734;801	E3W980;Q8TDG4	.;HELQ_HUMAN	K	801;734	ENSP00000295488:E801K;ENSP00000424539:E734K	ENSP00000295488:E801K	E	-	1	0	HELQ	84569818	0.997000	0.39634	0.506000	0.27664	0.251000	0.25915	3.987000	0.56944	2.420000	0.82092	0.467000	0.42956	GAA	HELQ	-	NULL		0.318	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84350794	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	missense	SNP	0.319	T	T	84350794	C	T	84350794	3	4	117	1	0	0	0	0	1	0	0	0	7067	835	29	1	932	1	HELQ	4	84350794	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	523047	84350794	106803482	342	17810										
MRPS18C	51023	genome.wustl.edu	37	chr4	84380912	84380912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcttttgtcccagtttgtttCtccatttactggatgcattt	7	9	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:84380912C>G	ENST00000295491.4	+	4	367	c.254C>G	c.(253-255)tCt>tGt	p.S85C	MRPS18C_ENST00000507019.1_Missense_Mutation_p.S57C|MRPS18C_ENST00000507349.1_Intron	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	85					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				CAGTTTGTTTCTCCATTTACT	0.294																																																	0													130	121	124					4																	84380912		2203	4292	6495	SO:0001583	missense	51023				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"Mitochondrial ribosomal proteins / small subunits"	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.254C>G	4.37:g.84380912C>G	ENSP00000295491:p.Ser85Cys			Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18	p.S85C	ENST00000295491.4	37	c.254	CCDS3604.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.091477|4.091477	0.76756|0.76756	.|.	.|.	ENSG00000163319|ENSG00000163319	ENST00000509970|ENST00000295491;ENST00000507019	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Ribosomal protein S18, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85366|0.85366	0.5680|0.5680	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	D|D	0.87759|0.87759	0.2597|0.2597	5|9	.|0.66056	.|D	.|0.02	-25.8069|-25.8069	18.9654|18.9654	0.92694|0.92694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|85	.|Q9Y3D5	.|RT18C_HUMAN	L|C	55|85;57	.|.	.|ENSP00000295491:S85C	F|S	+|+	3|2	2|0	MRPS18C|MRPS18C	84599936|84599936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.740000|5.740000	0.68629|0.68629	2.732000|2.732000	0.93576|0.93576	0.591000|0.591000	0.81541|0.81541	TTC|TCT	MRPS18C	-	pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18		0.294	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18C	HGNC	protein_coding	OTTHUMT00000252820.2	C			84380912	1	no_errors	ENST00000295491	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84380912	C	G	84380912	3	3	117	1	0	0	0	0	1	0	0	0	9853	913	32	1	268	1	MRPS18C	4	84380912	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	30118	84380912	106773364	343	17811										
FAM175A	84142	genome.wustl.edu	37	chr4	84384051	84384051	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggtctttttggatgttcttCtctcctaaacaaaatagaat	7	7	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:84384051C>G	ENST00000321945.7	-	9	909	c.801G>C	c.(799-801)gaG>gaC	p.E267D	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.E218D	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	267					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						GGATGTTCTTCTCTCCTAAAC	0.284																																																	0													29	31	30					4																	84384051		2129	4269	6398	SO:0001583	missense	84142			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"Abraxas protein"	611143	"coiled-coil domain containing 98"	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.801G>C	4.37:g.84384051C>G	ENSP00000369857:p.Glu267Asp		A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su	p.E267D	ENST00000321945.7	37	c.801	CCDS3605.2	4	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841165	0.32513	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.46451	0.87;0.87	6.13	4.18	0.49190	.	0.462418	0.25244	N	0.032069	T	0.40522	0.1120	L	0.60455	1.87	0.80722	D	1	D	0.56521	0.976	P	0.49085	0.6	T	0.27971	-1.0058	10	0.13470	T	0.59	-19.4819	7.1844	0.25791	0.0:0.6987:0.0:0.3013	.	267	Q6UWZ7	F175A_HUMAN	D	267;218	ENSP00000369857:E267D;ENSP00000426763:E218D	ENSP00000369857:E267D	E	-	3	2	FAM175A	84603075	0.750000	0.28316	1.000000	0.80357	0.892000	0.51952	-0.071000	0.11505	1.623000	0.50342	0.644000	0.83932	GAG	FAM175A	-	NULL		0.284	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175A	HGNC	protein_coding	OTTHUMT00000252818.1	C	NM_139076		84384051	-1	no_errors	ENST00000321945	ensembl	human	known	70_37	missense	SNP	0.992	G	G	84384051	C	G	84384051	3	3	117	1	0	0	0	0	1	0	0	0	5512	912	32	1	432	1	FAM175A	4	84384051	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3139	84384051	106770225	344	17812										
WDFY3	23001	genome.wustl.edu	37	chr4	85664936	85664936	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctttttgctgagttcttgtaGacctttcaggggaagcctaa	10	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:85664936G>C	ENST00000295888.4	-	37	6397	c.5990C>G	c.(5989-5991)tCt>tGt	p.S1997C	WDFY3_ENST00000322366.6_Missense_Mutation_p.S1997C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1997					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTTCTTGTAGACCTTTCAGG	0.323																																																	0													78	78	78					4																	85664936		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5990C>G	4.37:g.85664936G>C	ENSP00000295888:p.Ser1997Cys		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1997C	ENST00000295888.4	37	c.5990	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161314	0.57368	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64438	-0.1;-0.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.36672	1.1	0.80722	D	1	B	0.27700	0.186	B	0.21151	0.033	T	0.54563	-0.8275	10	0.54805	T	0.06	.	19.4376	0.94804	0.0:0.0:1.0:0.0	.	1997	Q8IZQ1	WDFY3_HUMAN	C	1997	ENSP00000318466:S1997C;ENSP00000295888:S1997C	ENSP00000295888:S1997C	S	-	2	0	WDFY3	85883960	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.094000	0.94168	2.660000	0.90430	0.467000	0.42956	TCT	WDFY3	-	NULL		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85664936	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85664936	G	C	85664936	3	2	117	1	0	0	0	0	1	0	0	0	17301	942	33	1	4718	1	WDFY3	4	85664936	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1280885	85664936	105489340	345	17813										
DSPP	1834	genome.wustl.edu	37	chr4	88536937	88536937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatagcagtgacagcagcgaTagcagtgacagcagcgatag	14	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:88536937T>C	ENST00000282478.7	+	4	3156	c.3123T>C	c.(3121-3123)gaT>gaC	p.D1041D	DSPP_ENST00000399271.1_Silent_p.D1041D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1041	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgatagcagtgaca	0.522																																																	0													55	64	61					4																	88536937		1555	2768	4323	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3123T>C	4.37:g.88536937T>C			A8MUI0|O95815	Silent	SNP	NULL	p.D1041	ENST00000282478.7	37	c.3123	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.522	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	T	NM_014208		88536937	1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.986	C	C	88536937	T	C	88536937	2	2	117	1	0	0	0	0	0	0	0	1	4792	1403	49	5		5	DSPP	4	88536937	Silent	SNP	T	TCGA-EK-A3GK-01A-11D-A20U-09	2872001	88536937	102617339	346	17814										
DSPP	1834	genome.wustl.edu	37	chr4	88536999	88536999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caatagcagtgacagcagtgAcagcagcgacagcagtgata	12	9	0	3	rs202222170		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:88536999A>G	ENST00000282478.7	+	4	3218	c.3185A>G	c.(3184-3186)gAc>gGc	p.D1062G	DSPP_ENST00000399271.1_Missense_Mutation_p.D1062G|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1062	Asp/Ser-rich.			D -> G (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcagtgacagcagcgac	0.532																																																	0													48	61	56					4																	88536999		1554	2803	4357	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3185A>G	4.37:g.88536999A>G	ENSP00000282478:p.Asp1062Gly		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D1062G	ENST00000282478.7	37	c.3185	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	6.732	0.503863	0.12822	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88975	-2.45;-2.45	1.51	1.51	0.23008	.	.	.	.	.	D	0.87716	0.6247	L	0.29908	0.895	0.21762	N	0.99955	D	0.76494	0.999	D	0.74023	0.982	T	0.76072	-0.3093	9	0.24483	T	0.36	.	5.1866	0.15187	1.0:0.0:0.0:0.0	.	1062	Q9NZW4	DSPP_HUMAN	G	1062	ENSP00000382213:D1062G;ENSP00000282478:D1062G	ENSP00000282478:D1062G	D	+	2	0	DSPP	88756023	0.386000	0.25180	0.936000	0.37596	0.006000	0.05464	2.307000	0.43682	0.963000	0.38082	0.242000	0.17961	GAC	DSPP	-	NULL		0.532	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	A	NM_014208		88536999	1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.993	G	G	88536999	A	G	88536999	3	3	117	1	0	0	0	0	1	0	0	0	4792	275	10	5	3199	5	DSPP	4	88536999	Missense_Mutation	SNP	A	TCGA-EK-A3GK-01A-11D-A20U-09	62	88536999	102617277	347	17815										
ABCG2	9429	genome.wustl.edu	37	chr4	89052332	89052332	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgctgagaactgtaagttttCtctcaccgtcagagtgccca	9	11	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89052332C>G	ENST00000237612.3	-	5	957	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.E138Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	138	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TGTAAGTTTTCTCTCACCGTC	0.393																																																	0													204	184	191					4																	89052332		2203	4300	6503	SO:0001583	missense	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.412G>C	4.37:g.89052332C>G	ENSP00000237612:p.Glu138Gln		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E138Q	ENST00000237612.3	37	c.412	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.268155	0.95429	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.49432	0.78;0.78	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.74348	0.983;0.941;0.982	T	0.73052	-0.4104	10	0.87932	D	0	-1.9453	19.0867	0.93206	0.0:1.0:0.0:0.0	.	138;138;138	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	Q	138	ENSP00000426917:E138Q;ENSP00000237612:E138Q	ENSP00000237612:E138Q	E	-	1	0	ABCG2	89271356	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.699000	0.68310	2.677000	0.91161	0.655000	0.94253	GAA	ABCG2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	C	NM_004827		89052332	-1	no_errors	ENST00000237612	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89052332	C	G	89052332	3	3	117	1	0	0	0	0	1	0	0	0	69	922	32	1	1603	1	ABCG2	4	89052332	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	515333	89052332	102101944	348	17816										
HERC5	51191	genome.wustl.edu	37	chr4	89425707	89425707	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catagtgatgttttggaaggCtttccacaaattgactctgg	10	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89425707C>G	ENST00000264350.3	+	22	2981	c.2828C>G	c.(2827-2829)gCt>gGt	p.A943G	HERC5_ENST00000508159.1_Missense_Mutation_p.A581G	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	943	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTTGGAAGGCTTTCCACAAA	0.318																																					Esophageal Squamous(39;887 1012 34045 50514)												0													73	73	73					4																	89425707		2203	4300	6503	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2828C>G	4.37:g.89425707C>G	ENSP00000264350:p.Ala943Gly		B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A943G	ENST00000264350.3	37	c.2828	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854922	0.32791	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.59224	0.28;0.28	4.62	3.76	0.43208	HECT (4);	0.140066	0.30311	N	0.009908	T	0.76190	0.3953	M	0.85859	2.78	0.25206	N	0.990013	D	0.76494	0.999	D	0.77557	0.99	T	0.69258	-0.5192	10	0.87932	D	0	.	11.7873	0.52049	0.177:0.823:0.0:0.0	.	943	Q9UII4	HERC5_HUMAN	G	943;581	ENSP00000264350:A943G;ENSP00000424129:A581G	ENSP00000264350:A943G	A	+	2	0	HERC5	89644730	1.000000	0.71417	0.962000	0.40283	0.006000	0.05464	3.463000	0.53050	1.152000	0.42452	-0.182000	0.12963	GCT	HERC5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.318	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	C	NM_016323		89425707	1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.989	G	G	89425707	C	G	89425707	3	3	117	1	0	0	0	0	1	0	0	0	7081	797	28	4	2914	4	HERC5	4	89425707	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	373375	89425707	101728569	349	17817										
FAM13A	10144	genome.wustl.edu	37	chr4	89679920	89679920	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctaccttcccagttcttttCatcacacaatgcagtcaggt	5	14	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89679920C>T	ENST00000264344.5	-	14	1918	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	FAM13A_ENST00000511976.1_Missense_Mutation_p.E157K|FAM13A_ENST00000503556.1_Missense_Mutation_p.E231K|FAM13A_ENST00000395002.2_Missense_Mutation_p.E245K|FAM13A_ENST00000513837.1_Missense_Mutation_p.E217K|FAM13A_ENST00000508369.1_Missense_Mutation_p.E245K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	571					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CAGTTCTTTTCATCACACAAT	0.443																																																	0													108	105	106					4																	89679920		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1711G>A	4.37:g.89679920C>T	ENSP00000264344:p.Glu571Lys		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E571K	ENST00000264344.5	37	c.1711	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119097	0.37436	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.44482	0.92;2.19;1.5;1.5;1.5;1.51	5.28	2.56	0.30785	.	0.344266	0.33235	N	0.005122	T	0.30510	0.0767	L	0.36672	1.1	0.80722	D	1	B;P;P;P;P;P;B	0.39282	0.29;0.51;0.465;0.666;0.51;0.51;0.161	B;B;B;B;B;B;B	0.36666	0.185;0.185;0.23;0.194;0.185;0.185;0.154	T	0.03296	-1.1051	10	0.40728	T	0.16	.	10.5107	0.44860	0.0:0.6802:0.2516:0.0682	.	217;250;157;571;245;231;245	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	K	245;571;231;157;245;217	ENSP00000378450:E245K;ENSP00000264344:E571K;ENSP00000427189:E231K;ENSP00000421914:E157K;ENSP00000421562:E245K;ENSP00000423252:E217K	ENSP00000264344:E571K	E	-	1	0	FAM13A	89898943	1.000000	0.71417	0.103000	0.21229	0.558000	0.35554	3.704000	0.54815	0.344000	0.23847	-0.145000	0.13849	GAA	FAM13A	-	NULL		0.443	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	C			89679920	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	missense	SNP	0.960	T	T	89679920	C	T	89679920	3	4	117	1	0	0	0	0	1	0	0	0	5467	835	29	1	1404	1	FAM13A	4	89679920	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	254213	89679920	101474356	350	17818										
FAM13A	10144	genome.wustl.edu	37	chr4	89702330	89702330	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acttaccacaagaccgtcctGattgtcatgaagctcagaaa	7	11	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89702330G>A	ENST00000264344.5	-	11	1651	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q142*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q156*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q128*|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q156*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	482					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGACCGTCCTGATTGTCATGA	0.338																																																	0													122	110	114					4																	89702330		2203	4300	6503	SO:0001587	stop_gained	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1444C>T	4.37:g.89702330G>A	ENSP00000264344:p.Gln482*		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q482*	ENST00000264344.5	37	c.1444	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.921631	0.97105	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	.	.	.	5.22	4.36	0.52297	.	0.435897	0.25666	N	0.029103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.1573	0.72752	0.0:0.0:0.8577:0.1423	.	.	.	.	X	156;482;142;156;128	.	ENSP00000264344:Q482X	Q	-	1	0	FAM13A	89921353	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.868000	0.63021	1.410000	0.46936	0.650000	0.86243	CAG	FAM13A	-	NULL		0.338	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	G			89702330	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	89702330	G	A	89702330	4	1	117	1	0	0	0	0	0	1	0	0	5467	1299	45	1	1683	1	FAM13A	4	89702330	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	22410	89702330	101451946	351	17819										
HPGDS	27306	genome.wustl.edu	37	chr4	95255735	95255735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaatatgtaacgaataatttCtgctctccccctcatattaa	3	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:95255735C>T	ENST00000295256.5	-	2	136	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	16	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CGAATAATTTCTGCTCTCCCC	0.363																																					Colon(86;1802 1843 17863 46794)												0													122	119	120					4																	95255735		2203	4299	6502	SO:0001583	missense	27306			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.46G>A	4.37:g.95255735C>T	ENSP00000295256:p.Glu16Lys		Q6FHT9	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.E16K	ENST00000295256.5	37	c.46	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.066108	0.93898	.	.	ENSG00000163106	ENST00000295256	T	0.08370	3.1	5.57	5.57	0.84162	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.35711	0.0941	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.20907	-1.0261	10	0.87932	D	0	.	17.0442	0.86498	0.0:1.0:0.0:0.0	.	16	O60760	HPGDS_HUMAN	K	16	ENSP00000295256:E16K	ENSP00000295256:E16K	E	-	1	0	HPGDS	95474758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.079000	0.64431	2.626000	0.88956	0.655000	0.94253	GAA	HPGDS	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.363	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	C	NM_014485		95255735	-1	no_errors	ENST00000295256	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95255735	C	T	95255735	3	4	117	1	0	0	0	0	1	0	0	0	7355	922	32	1	573	1	HPGDS	4	95255735	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5553405	95255735	95898541	352	17820										
CENPE	1062	genome.wustl.edu	37	chr4	104082602	104082602	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgcttcatttgttttgggtCttcaatgctttcctagacag	8	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:104082602C>T	ENST00000265148.3	-	19	1944	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	CENPE_ENST00000380026.3_Missense_Mutation_p.D594N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	619					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTGGGTCTTCAATGCTT	0.373																																																	0													92	94	93					4																	104082602		2202	4300	6502	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1855G>A	4.37:g.104082602C>T	ENSP00000265148:p.Asp619Asn		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D619N	ENST00000265148.3	37	c.1855	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303441	0.40795	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.69806	0.54;-0.43;0.54	5.32	4.48	0.54585	.	.	.	.	.	T	0.67192	0.2867	L	0.29908	0.895	0.33285	D	0.562839	P;D	0.60575	0.873;0.988	P;P	0.57204	0.543;0.815	T	0.75662	-0.3240	9	0.59425	D	0.04	.	11.941	0.52901	0.0:0.92:0.0:0.08	.	594;619	Q02224-3;Q02224	.;CENPE_HUMAN	N	619;619;594;619	ENSP00000265148:D619N;ENSP00000369365:D594N;ENSP00000423981:D619N	ENSP00000265148:D619N	D	-	1	0	CENPE	104302051	0.551000	0.26497	0.108000	0.21378	0.080000	0.17528	1.878000	0.39608	1.249000	0.43950	0.585000	0.79938	GAC	CENPE	-	NULL		0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104082602	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.610	T	T	104082602	C	T	104082602	3	4	117	1	0	0	0	0	1	0	0	0	3235	913	32	1	6374	1	CENPE	4	104082602	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8826867	104082602	87071674	353	17821										
CCDC109B	55013	genome.wustl.edu	37	chr4	110585445	110585445	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcatgatgtttttctttcaGatggcaacatgatttcagct	8	7	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:110585445G>C	ENST00000394650.4	+	4	479		c.e4-1			NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B						mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TTTTCTTTCAGATGGCAACAT	0.313																																																	0													118	111	113					4																	110585445		2202	4300	6502	SO:0001630	splice_region_variant	55013			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.347-1G>C	4.37:g.110585445G>C			A8K4Y3|Q6IAC1	Splice_Site	SNP	-	e4-1	ENST00000394650.4	37	c.347-1	CCDS3683.2	4	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060807	0.55432	.	.	ENSG00000005059	ENST00000394650;ENST00000452915	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC109B	110804894	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.368000	0.73104	2.574000	0.86865	0.655000	0.94253	.	CCDC109B	-	-		0.313	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC109B	HGNC	protein_coding	OTTHUMT00000254865.1	G	NM_017918	Intron	110585445	1	no_errors	ENST00000394650	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	110585445	G	C	110585445	5	2	117	1	0	0	0	0	0	0	1	0	2750	956	33	1	360	1	CCDC109B	4	110585445	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6502843	110585445	80568831	354	17822										
ANK2	287	genome.wustl.edu	37	chr4	114278256	114278256	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacagagggagaagagcttGatgtttctagagcagaatct	12	6	2	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:114278256G>C	ENST00000357077.4	+	38	8535	c.8482G>C	c.(8482-8484)Gat>Cat	p.D2828H	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2795H|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2828					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAGAGCTTGATGTTTCTAG	0.423																																																	0													110	109	109					4																	114278256		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8482G>C	4.37:g.114278256G>C	ENSP00000349588:p.Asp2828His		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D2828H	ENST00000357077.4	37	c.8482	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312156	0.40895	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69175	-0.37;-0.38	5.75	2.0	0.26442	.	1.530730	0.03735	N	0.254042	T	0.63260	0.2496	M	0.71581	2.175	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.16722	0.007;0.016	T	0.32241	-0.9914	9	.	.	.	.	1.3952	0.02259	0.3258:0.1347:0.4009:0.1386	.	2795;2828	Q01484;Q01484-4	ANK2_HUMAN;.	H	2828;2795	ENSP00000349588:D2828H;ENSP00000264366:D2795H	.	D	+	1	0	ANK2	114497705	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.671000	0.25172	0.049000	0.15920	0.650000	0.86243	GAT	ANK2	-	NULL		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114278256	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.000	C	C	114278256	G	C	114278256	3	2	117	1	0	0	0	0	1	0	0	0	621	1290	45	1	8697	1	ANK2	4	114278256	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3692811	114278256	76876020	355	17823										
C4orf3	401152	genome.wustl.edu	37	chr4	120221707	120221707	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccatctcgctcctgcagcttCgtaacaaccctagaaaccga	6	16	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:120221707C>T	ENST00000504110.1	-	0	369				C4orf3_ENST00000399075.4_Missense_Mutation_p.R128Q	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)		p.R128Q(1)		breast(1)|large_intestine(1)|lung(4)	6						CCTGCAGCTTCGTAACAACCC	0.622																																																	1	Substitution - Missense(1)	lung(1)											93	100	98					4																	120221707		1992	4147	6139	SO:0001623	5_prime_UTR_variant	401152				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"HCV F-transactivated protein 1"						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-17G>A	4.37:g.120221707C>T			Q6J203	Missense_Mutation	SNP	NULL	p.R128Q	ENST00000504110.1	37	c.383	CCDS43266.1	4	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673322	0.47781	.	.	ENSG00000164096	ENST00000399075	T	0.37752	1.18	4.55	-2.26	0.06867	.	.	.	.	.	T	0.18551	0.0445	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.29336	-1.0015	5	0.22109	T	0.4	-0.1601	2.0341	0.03536	0.3653:0.3606:0.1194:0.1547	.	.	.	.	Q	128	ENSP00000382026:R128Q	ENSP00000382026:R128Q	R	-	2	0	C4orf3	120441155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.041000	0.12084	-0.503000	0.06586	-0.314000	0.08810	CGA	C4orf3	-	NULL		0.622	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	C	NM_001001701		120221707	-1	no_errors	ENST00000399075	ensembl	human	known	70_37	missense	SNP	0.000	T	T	120221707	C	T	120221707	1	4	117	0	1	0	0	0	0	0	0	0	2265	884	31	1		1	C4orf3	4	120221707	5'UTR	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5943451	120221707	70932569	356	17824										
PRDM5	11107	genome.wustl.edu	37	chr4	121742343	121742343	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taccttttctgcccgctgttGattgtcttctagaattttca	6	10	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:121742343G>C	ENST00000264808.3	-	4	698	c.458C>G	c.(457-459)tCa>tGa	p.S153*	PRDM5_ENST00000428209.2_Nonsense_Mutation_p.S153*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.S153*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	153					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCGCTGTTGATTGTCTTCT	0.393																																																	0													230	224	226					4																	121742343		2203	4300	6503	SO:0001587	stop_gained	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.458C>G	4.37:g.121742343G>C	ENSP00000264808:p.Ser153*		Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.S153*	ENST00000264808.3	37	c.458	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.755250	0.96898	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	.	.	.	5.42	1.7	0.24286	.	0.964812	0.08616	N	0.919281	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.7115	5.1029	0.14768	0.2213:0.0:0.4812:0.2976	.	.	.	.	X	153	.	ENSP00000264808:S153X	S	-	2	0	PRDM5	121961793	0.036000	0.19791	0.000000	0.03702	0.000000	0.00434	0.882000	0.28186	0.059000	0.16252	-0.905000	0.02835	TCA	PRDM5	-	pirsf_Znf_PRDM5		0.393	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121742343	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	121742343	G	C	121742343	4	2	117	1	0	0	0	0	0	1	0	0	12487	1294	45	1	1486	1	PRDM5	4	121742343	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1520636	121742343	69411933	357	17825										
C4orf31	79625	genome.wustl.edu	37	chr4	121966894	121966894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaaatgccttgtcccggatCtgcatctgaaaaagttcctc	7	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:121966894C>G	ENST00000379692.4	-	2	625	c.99G>C	c.(97-99)caG>caC	p.Q33H		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	33					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTCCCGGATCTGCATCTGAA	0.483																																																	0													64	65	65					4																	121966894		1895	4117	6012	SO:0001583	missense	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.99G>C	4.37:g.121966894C>G	ENSP00000369014:p.Gln33His		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.Q33H	ENST00000379692.4	37	c.99	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742843	0.69418	.	.	ENSG00000173376	ENST00000379692;ENST00000515757;ENST00000511408	.	.	.	5.72	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.62723	1.935	0.58432	D	0.999996	D	0.61697	0.99	D	0.72982	0.979	T	0.68150	-0.5485	9	0.66056	D	0.02	-22.7795	9.7913	0.40708	0.0:0.7756:0.0:0.2244	.	33	Q8TB73	NDNF_HUMAN	H	33	.	ENSP00000369014:Q33H	Q	-	3	2	NDNF	122186344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.591000	0.36665	0.337000	0.23665	0.655000	0.94253	CAG	NDNF	-	NULL		0.483	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	C	NM_024574		121966894	-1	no_errors	ENST00000379692	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121966894	C	G	121966894	3	3	117	1	0	0	0	0	1	0	0	0	2266	912	32	1	1619	1	C4orf31	4	121966894	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	224551	121966894	69187382	358	17826										
TRPC3	7222	genome.wustl.edu	37	chr4	122853864	122853864	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgcgcacgtagcccttgctGatggcgagcagcagggcgtc	15	12	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:122853864G>A	ENST00000379645.3	-	2	622	c.549C>T	c.(547-549)atC>atT	p.I183I	TRPC3_ENST00000513531.1_Silent_p.I110I|TRPC3_ENST00000264811.5_Silent_p.I110I	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	98					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCCCTTGCTGATGGCGAGCA	0.652																																																	0													72	61	65					4																	122853864		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.549C>T	4.37:g.122853864G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I183	ENST00000379645.3	37	c.549	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.652	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	G	NM_003305		122853864	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122853864	G	A	122853864	2	1	117	1	0	0	0	0	0	0	0	1	16610	1280	45	1		1	TRPC3	4	122853864	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	886970	122853864	68300412	359	17827										
KIAA1109	84162	genome.wustl.edu	37	chr4	123160901	123160901	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgatgagaatgtactagactCaccaaagcagaggagaagtt	11	6	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:123160901C>T	ENST00000264501.4	+	29	4437	c.4064C>T	c.(4063-4065)tCa>tTa	p.S1355L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1355L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1355L			Q2LD37	K1109_HUMAN	KIAA1109	1355					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTACTAGACTCACCAAAGCAG	0.423																																																	0													115	109	111					4																	123160901		1953	4148	6101	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4064C>T	4.37:g.123160901C>T	ENSP00000264501:p.Ser1355Leu		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S1355L	ENST00000264501.4	37	c.4064	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915743	0.92178	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.31510	2.1;2.1;1.49	5.98	5.98	0.97165	.	0.000000	0.42964	U	0.000623	T	0.45617	0.1351	N	0.24115	0.695	0.58432	D	0.999996	D	0.63880	0.993	D	0.72338	0.977	T	0.42682	-0.9437	10	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1355	Q2LD37	K1109_HUMAN	L	1355	ENSP00000264501:S1355L;ENSP00000373390:S1355L;ENSP00000389925:S1355L	ENSP00000264501:S1355L	S	+	2	0	KIAA1109	123380351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.368000	0.79567	2.843000	0.97960	0.650000	0.86243	TCA	KIAA1109	-	NULL		0.423	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123160901	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123160901	C	T	123160901	3	4	117	1	0	0	0	0	1	0	0	0	8228	838	29	1	4170	1	KIAA1109	4	123160901	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	307037	123160901	67993375	360	17828										
KIAA1109	84162	genome.wustl.edu	37	chr4	123254926	123254926	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agacaaagcctagtgacttaGaaacaacagtattttacatt	6	7	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:123254926G>A	ENST00000264501.4	+	68	11981	c.11608G>A	c.(11608-11610)Gaa>Aaa	p.E3870K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3870K			Q2LD37	K1109_HUMAN	KIAA1109	3870					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGACTTAGAAACAACAGT	0.363																																																	0													93	82	85					4																	123254926		1847	4092	5939	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11608G>A	4.37:g.123254926G>A	ENSP00000264501:p.Glu3870Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E3870K	ENST00000264501.4	37	c.11608	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.628065	0.96671	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.33865	2.24;2.24;1.39	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	T	0.56038	-0.8045	10	0.66056	D	0.02	.	19.4758	0.94987	0.0:0.0:1.0:0.0	.	3869;3870	Q2LD37-4;Q2LD37	.;K1109_HUMAN	K	3870;3870;574	ENSP00000264501:E3870K;ENSP00000373390:E3870K;ENSP00000410874:E574K	ENSP00000264501:E3870K	E	+	1	0	KIAA1109	123474376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.673000	0.90976	0.467000	0.42956	GAA	KIAA1109	-	NULL		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123254926	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123254926	G	A	123254926	3	1	117	1	0	0	0	0	1	0	0	0	8228	943	33	1	11870	1	KIAA1109	4	123254926	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	94025	123254926	67899350	361	17829										
NUDT6	11162	genome.wustl.edu	37	chr4	123843699	123843699	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcgggcaagcatcgcgcgcCagcggccccagctcagtggc	14	16	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:123843699C>T	ENST00000304430.5	-	1	62	c.29G>A	c.(28-30)tGg>tAg	p.W10*	SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	10						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CATCGCGCGCCAGCGGCCCCA	0.692																																																	0													13	15	14					4																	123843699		1888	4037	5925	SO:0001587	stop_gained	11162			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.29G>A	4.37:g.123843699C>T	ENSP00000306070:p.Trp10*		A8K756|O95097|Q9UQD9	Nonsense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	p.W10*	ENST00000304430.5	37	c.29	CCDS43268.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997919	0.74818	.	.	ENSG00000170917	ENST00000304430	.	.	.	3.97	2.12	0.27331	.	0.606331	0.15958	N	0.236385	.	.	.	.	.	.	0.20074	N	0.999936	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8737	10.2084	0.43126	0.3972:0.6028:0.0:0.0	.	.	.	.	X	10	.	ENSP00000306070:W10X	W	-	2	0	NUDT6	124063149	0.000000	0.05858	0.028000	0.17463	0.005000	0.04900	0.217000	0.17603	0.368000	0.24481	0.462000	0.41574	TGG	NUDT6	-	NULL		0.692	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT6	HGNC	protein_coding	OTTHUMT00000095331.3	C	NM_007083		123843699	-1	no_errors	ENST00000304430	ensembl	human	known	70_37	nonsense	SNP	0.070	T	T	123843699	C	T	123843699	4	4	117	1	0	0	0	0	0	1	0	0	10767	595	21	4	941	4	NUDT6	4	123843699	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	588773	123843699	67310577	362	17830										
C4orf29	80167	genome.wustl.edu	37	chr4	128930140	128930140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtatgcattcatcttgctgGaacaggagatcatgtaagac	10	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:128930140G>A	ENST00000444616.1	+	5	591	c.344G>A	c.(343-345)gGa>gAa	p.G115E	C4orf29_ENST00000388795.5_Missense_Mutation_p.G33E|C4orf29_ENST00000398965.1_Missense_Mutation_p.G115E			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	115						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CATCTTGCTGGAACAGGAGAT	0.303																																																	0													89	83	84					4																	128930140		1845	4097	5942	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.344G>A	4.37:g.128930140G>A	ENSP00000397229:p.Gly115Glu		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.G115E	ENST00000444616.1	37	c.344		4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249030	0.80024	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.84593	0.5506	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87677	0.2545	9	0.87932	D	0	-25.6114	18.5022	0.90886	0.0:0.0:1.0:0.0	.	115	Q0P651	CD029_HUMAN	E	115;115;115;33;33	.	ENSP00000373447:G33E	G	+	2	0	C4orf29	129149590	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.128000	0.77217	2.413000	0.81919	0.650000	0.86243	GGA	C4orf29	-	pfam_DUF2048		0.303	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	G	NM_001039717		128930140	1	no_errors	ENST00000398965	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128930140	G	A	128930140	3	1	117	1	0	0	0	0	1	0	0	0	2264	1174	41	1	358	1	C4orf29	4	128930140	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5086441	128930140	62224136	363	17831										
INPP4B	8821	genome.wustl.edu	37	chr4	143003309	143003309	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggcacttttacaacaggtGaaacgaataccattcagttt	7	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:143003309G>T	ENST00000513000.1	-	26	2950	c.2517C>A	c.(2515-2517)ttC>ttA	p.F839L	INPP4B_ENST00000508116.1_Missense_Mutation_p.F839L|INPP4B_ENST00000509777.1_Missense_Mutation_p.F839L|INPP4B_ENST00000308502.4_Missense_Mutation_p.F839L|INPP4B_ENST00000262992.4_Missense_Mutation_p.F839L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	839					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACAACAGGTGAAACGAATAC	0.408																																																	0													159	139	146					4																	143003309		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2517C>A	4.37:g.143003309G>T	ENSP00000425487:p.Phe839Leu		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F839L	ENST00000513000.1	37	c.2517	CCDS3757.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260795|3.260795	0.59431|0.59431	.|.	.|.	ENSG00000109452|ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838|ENST00000542702	T;T;T;T;T;T|.	0.22134|.	1.98;1.98;1.98;1.98;1.97;1.97|.	5.82|5.82	3.83|3.83	0.44106|0.44106	.|.	0.052811|.	0.85682|.	D|.	0.000000|.	T|T	0.64260|0.64260	0.2582|0.2582	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.18166|.	0.026|.	B|.	0.14578|.	0.011|.	T|T	0.67604|0.67604	-0.5628|-0.5628	10|6	0.22706|0.87932	T|D	0.39|0	.|.	11.0632|11.0632	0.47959|0.47959	0.2004:0.0:0.7996:0.0|0.2004:0.0:0.7996:0.0	.|.	839|.	O15327|.	INP4B_HUMAN|.	L|N	839;839;839;839;839;654|654	ENSP00000425487:F839L;ENSP00000262992:F839L;ENSP00000308441:F839L;ENSP00000423954:F839L;ENSP00000422793:F839L;ENSP00000426207:F654L|.	ENSP00000262992:F839L|ENSP00000446046:H654N	F|H	-|-	3|1	2|0	INPP4B|INPP4B	143222759|143222759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.441000|2.441000	0.44864|0.44864	1.448000|1.448000	0.47680|0.47680	0.650000|0.650000	0.86243|0.86243	TTC|CAC	INPP4B	-	NULL		0.408	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	G	NM_003866		143003309	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143003309	G	T	143003309	3	4	117	1	0	0	0	0	1	0	0	0	7773	1281	45	3	265	3	INPP4B	4	143003309	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	14073169	143003309	48150967	364	17832										
LSM6	11157	genome.wustl.edu	37	chr4	147110796	147110796	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgtacatcagtacacagaaGagacggatgtgaagacacca	10	8	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:147110796G>C	ENST00000502781.1	+	4	950	c.231G>C	c.(229-231)aaG>aaC	p.K77N	LSM6_ENST00000296581.5_Missense_Mutation_p.K77N			P62312	LSM6_HUMAN	LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)	77					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)					all_hematologic(180;0.151)					GTACACAGAAGAGACGGATGT	0.294																																					Ovarian(181;1591 2748 12147 31551)												0													71	79	76					4																	147110796		2203	4299	6502	SO:0001583	missense	11157			AF182292	CCDS3767.1	4q31.21	2008-02-05				ENSG00000164167			17017	protein-coding gene	gene with protein product		607286				10369684, 10523320	Standard	NM_007080		Approved	YDR378C	uc003ikq.4	P62312		ENST00000502781.1:c.231G>C	4.37:g.147110796G>C	ENSP00000422392:p.Lys77Asn		Q4W5J5|Q9Y4Y8	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.K77N	ENST00000502781.1	37	c.231	CCDS3767.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330741	0.81690	.	.	ENSG00000164167	ENST00000296581;ENST00000515311;ENST00000502781;ENST00000504181	.	.	.	6.02	6.02	0.97574	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	.	.	.	0.80722	D	1	B	0.31054	0.306	B	0.29353	0.101	T	0.53627	-0.8412	8	0.38643	T	0.18	-23.1011	20.5407	0.99260	0.0:0.0:1.0:0.0	.	77	P62312	LSM6_HUMAN	N	77	.	ENSP00000296581:K77N	K	+	3	2	LSM6	147330246	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.460000	0.66691	2.865000	0.98341	0.655000	0.94253	AAG	LSM6	-	superfamily_LSM_dom		0.294	LSM6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LSM6	HGNC	protein_coding	OTTHUMT00000364929.1	G			147110796	1	no_errors	ENST00000296581	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147110796	G	C	147110796	3	2	117	1	0	0	0	0	1	0	0	0	9083	933	33	1	241	1	LSM6	4	147110796	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4107487	147110796	44043480	365	17833										
FBXW7	55294	genome.wustl.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccatcatattgaacacagcGgactgctgcaacatgaccca	8	13	1	2	rs149680468		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505G	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247289	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153247289	G	C	153247289	3	2	117	1	0	0	0	0	1	0	0	0	5787	1116	39	2	622	2	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6136493	153247289	37906987	366	17834										
DCHS2	54798	genome.wustl.edu	37	chr4	155254118	155254118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaaatgttcgaaagtccagGatgggctgtgttcgcgtttc	12	9	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:155254118G>A	ENST00000357232.4	-	9	1744	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.S1081F	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	582	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAGTCCAGGATGGGCTGTG	0.567																																																	0													88	89	89					4																	155254118		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1745C>T	4.37:g.155254118G>A	ENSP00000349768:p.Ser582Phe		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S582F	ENST00000357232.4	37	c.1745	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524163	0.44866	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.58210	0.55;0.35	5.43	3.64	0.41730	Cadherin (2);	1.137740	0.06739	N	0.778130	T	0.61986	0.2391	L	0.49778	1.585	0.21220	N	0.999759	P;D	0.53151	0.883;0.958	P;P	0.50231	0.461;0.635	T	0.57165	-0.7858	10	0.59425	D	0.04	.	16.1119	0.81270	0.0:0.251:0.749:0.0	.	1081;582	E9PC11;Q6V1P9	.;PCD23_HUMAN	F	582;1081;1081	ENSP00000349768:S582F;ENSP00000345062:S1081F	ENSP00000345062:S1081F	S	-	2	0	DCHS2	155473568	0.003000	0.15002	0.002000	0.10522	0.035000	0.12851	1.260000	0.32968	0.715000	0.32103	0.655000	0.94253	TCC	DCHS2	-	smart_Cadherin,pfscan_Cadherin		0.567	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155254118	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.011	A	A	155254118	G	A	155254118	3	1	117	1	0	0	0	0	1	0	0	0	4293	1174	41	1	7169	1	DCHS2	4	155254118	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2006829	155254118	35900158	367	17835										
FGA	2243	genome.wustl.edu	37	chr4	155505690	155505690	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcttcattcccagcccagtcCtctaattcaaccctaagaac	4	16	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:155505690C>G	ENST00000302053.3	-	6	2265	c.2187G>C	c.(2185-2187)gaG>gaC	p.E729D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	729	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGCCCAGTCCTCTAATTCAA	0.527																																					NSCLC(143;340 1922 20892 22370 48145)												0													138	135	136					4																	155505690		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2187G>C	4.37:g.155505690C>G	ENSP00000306361:p.Glu729Asp		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E729D	ENST00000302053.3	37	c.2187	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923352	0.73213	.	.	ENSG00000171560	ENST00000302053	T	0.78924	-1.22	5.61	2.8	0.32819	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.090158	0.85682	D	0.000000	D	0.87422	0.6173	M	0.91459	3.21	0.80722	D	1	P	0.51791	0.948	P	0.60236	0.871	D	0.86594	0.1862	10	0.72032	D	0.01	.	9.4378	0.38650	0.0:0.7554:0.0:0.2446	.	729	P02671	FIBA_HUMAN	D	729	ENSP00000306361:E729D	ENSP00000306361:E729D	E	-	3	2	FGA	155725140	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.726000	0.47302	0.255000	0.21593	0.650000	0.86243	GAG	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.527	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505690	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155505690	C	G	155505690	3	3	117	1	0	0	0	0	1	0	0	0	5848	680	24	4	417	4	FGA	4	155505690	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	251572	155505690	35648586	368	17836										
GLRB	2743	genome.wustl.edu	37	chr4	158073953	158073953	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttcctatgtgaaggctcttGatgtttggcttattgcttgc	10	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:158073953G>A	ENST00000264428.4	+	9	1258	c.988G>A	c.(988-990)Gat>Aat	p.D330N	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.D330N|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	330					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GAAGGCTCTTGATGTTTGGCT	0.488																																																	0													187	175	179					4																	158073953		2203	4300	6503	SO:0001583	missense	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.988G>A	4.37:g.158073953G>A	ENSP00000264428:p.Asp330Asn		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D330N	ENST00000264428.4	37	c.988	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337078	0.81801	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.88124	-2.34;-2.34	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.047671	0.85682	D	0.000000	D	0.94594	0.8258	M	0.87547	2.89	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.94983	0.8127	10	0.87932	D	0	.	19.6332	0.95719	0.0:0.0:1.0:0.0	.	330	P48167	GLRB_HUMAN	N	330	ENSP00000264428:D330N;ENSP00000427186:D330N	ENSP00000264428:D330N	D	+	1	0	GLRB	158293403	1.000000	0.71417	0.482000	0.27366	0.333000	0.28666	9.857000	0.99534	2.642000	0.89623	0.650000	0.86243	GAT	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.488	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	G	NM_000824		158073953	1	no_errors	ENST00000264428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	158073953	G	A	158073953	3	1	117	1	0	0	0	0	1	0	0	0	6477	1290	45	1	1018	1	GLRB	4	158073953	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2568263	158073953	33080323	369	17837										
KLHL2	11275	genome.wustl.edu	37	chr4	166231890	166231890	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatacgctgtgggaggctttGatgggagtacaggtaatttc	14	5	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:166231890G>C	ENST00000226725.6	+	10	1484	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	KLHL2_ENST00000506761.1_Missense_Mutation_p.D243H|KLHL2_ENST00000538127.1_Missense_Mutation_p.D321H|KLHL2_ENST00000421009.2_Missense_Mutation_p.D312H|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.D413H	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	409					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGGAGGCTTTGATGGGAGTAC	0.418																																																	0													197	204	202					4																	166231890		2203	4300	6503	SO:0001583	missense	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1225G>C	4.37:g.166231890G>C	ENSP00000226725:p.Asp409His		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D409H	ENST00000226725.6	37	c.1225	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277669	0.80692	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.81	5.81	0.92471	Galactose oxidase, beta-propeller (1);	0.091794	0.64402	D	0.000001	D	0.92143	0.7509	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	D	0.92832	0.6281	10	0.72032	D	0.01	.	20.0793	0.97766	0.0:0.0:1.0:0.0	.	413;409;409	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	H	409;413;321;312;243	ENSP00000226725:D409H;ENSP00000424198:D413H;ENSP00000437526:D321H;ENSP00000408974:D312H;ENSP00000424108:D243H	ENSP00000226725:D409H	D	+	1	0	KLHL2	166451340	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.764000	0.74960	2.735000	0.93741	0.650000	0.86243	GAT	KLHL2	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.418	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	G			166231890	1	no_errors	ENST00000226725	ensembl	human	known	70_37	missense	SNP	1.000	C	C	166231890	G	C	166231890	3	2	117	1	0	0	0	0	1	0	0	0	8394	1290	45	1	1305	1	KLHL2	4	166231890	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8157937	166231890	24922386	370	17838										
PALLD	23022	genome.wustl.edu	37	chr4	169837137	169837137	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttgcaggctcctggagatCtgactgttcaagaaggaaaa	11	8	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:169837137C>G	ENST00000505667.1	+	17	2982	c.2809C>G	c.(2809-2811)Ctg>Gtg	p.L937V	PALLD_ENST00000512127.1_Missense_Mutation_p.L538V|PALLD_ENST00000507735.1_Missense_Mutation_p.L433V|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.L920V|PALLD_ENST00000335742.7_Missense_Mutation_p.L762V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1144					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCTGGAGATCTGACTGTTCA	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													97	102	100					4																	169837137		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2809C>G	4.37:g.169837137C>G	ENSP00000425556:p.Leu937Val		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L920V	ENST00000505667.1	37	c.2758	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283202	0.59867	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.26503	U	0.024008	T	0.53738	0.1815	N	0.03029	-0.43	0.80722	D	1	D;D;P;D	0.67145	0.996;0.978;0.953;0.996	P;P;P;P	0.61070	0.883;0.622;0.672;0.883	T	0.53995	-0.8359	10	0.07813	T	0.8	.	19.7942	0.96472	0.0:1.0:0.0:0.0	.	937;1144;538;920	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	V	920;762;937;538;433	ENSP00000261509:L920V;ENSP00000336735:L762V;ENSP00000425556:L937V;ENSP00000426947:L538V;ENSP00000424016:L433V	ENSP00000261509:L920V	L	+	1	2	PALLD	170073712	0.998000	0.40836	0.997000	0.53966	0.977000	0.68977	2.594000	0.46189	2.684000	0.91462	0.313000	0.20887	CTG	PALLD	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	C	NM_016081		169837137	1	no_errors	ENST00000261509	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169837137	C	G	169837137	3	3	117	1	0	0	0	0	1	0	0	0	11431	912	32	1	3378	1	PALLD	4	169837137	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3605247	169837137	21317139	371	17839										
MFAP3L	9848	genome.wustl.edu	37	chr4	170913057	170913057	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acgctcctggcaagctcttcGatgtagcgggcgaactccat	11	13	1	0	rs536326972		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:170913057G>A	ENST00000361618.3	-	3	1009	c.702C>T	c.(700-702)atC>atT	p.I234I	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.I131I	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CAAGCTCTTCGATGTAGCGGG	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		19093	0		0	False		,,,				2504	0																0													63	68	66					4																	170913057		2203	4300	6503	SO:0001819	synonymous_variant	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.702C>T	4.37:g.170913057G>A			A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I234	ENST00000361618.3	37	c.702	CCDS34103.1	4																																																																																			MFAP3L	-	NULL		0.552	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	G	NM_021647		170913057	-1	no_errors	ENST00000361618	ensembl	human	known	70_37	silent	SNP	0.982	A	A	170913057	G	A	170913057	2	1	117	1	0	0	0	0	0	0	0	1	9539	1048	37	1		1	MFAP3L	4	170913057	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1075920	170913057	20241219	372	17840										
ENPP6	133121	genome.wustl.edu	37	chr4	185138866	185138866	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctcatcactgatgtagtctGagcgaaaaccatccagcaga	8	12	3	3	rs375902924		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:185138866G>C	ENST00000296741.2	-	1	248	c.107C>G	c.(106-108)tCa>tGa	p.S36*		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	36					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GATGTAGTCTGAGCGAAAACC	0.567																																																	0													61	59	60					4																	185138866		2203	4300	6503	SO:0001587	stop_gained	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.107C>G	4.37:g.185138866G>C	ENSP00000296741:p.Ser36*		Q4W5Q1|Q96M57	Nonsense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S36*	ENST00000296741.2	37	c.107	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417563	0.62622	.	.	ENSG00000164303	ENST00000296741	.	.	.	5.28	2.32	0.28847	.	0.553075	0.20451	N	0.092087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-3.465	1.2595	0.01999	0.15:0.2745:0.2961:0.2794	.	.	.	.	X	36	.	ENSP00000296741:S36X	S	-	2	0	ENPP6	185375860	0.208000	0.23494	0.434000	0.26772	0.018000	0.09664	1.601000	0.36773	0.765000	0.33221	-0.175000	0.13238	TCA	ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.567	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	G	NM_153343		185138866	-1	no_errors	ENST00000296741	ensembl	human	known	70_37	nonsense	SNP	0.024	C	C	185138866	G	C	185138866	4	2	117	1	0	0	0	0	0	1	0	0	5146	1294	45	1	1247	1	ENPP6	4	185138866	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	14225809	185138866	6015410	373	17841										
FAT1	2195	genome.wustl.edu	37	chr4	187527350	187527350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttatcagaagcttgaaccgtGagcgtgtaacctgaaatctt	9	8	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:187527350G>A	ENST00000441802.2	-	17	10433	c.10224C>T	c.(10222-10224)ctC>ctT	p.L3408L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3408	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTGAACCGTGAGCGTGTAAC	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													106	106	106					4																	187527350		1999	4172	6171	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10224C>T	4.37:g.187527350G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3408	ENST00000441802.2	37	c.10224	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187527350	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	silent	SNP	1.000	A	A	187527350	G	A	187527350	2	1	117	1	0	0	0	0	0	0	0	1	5707	1277	45	1		1	FAT1	4	187527350	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2388484	187527350	3626926	374	17842										
SDHA	6389	genome.wustl.edu	37	chr5	224575	224575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atttggcctttctgaggcagGgtttaatacagcatgtgtta	11	6	1	1	rs199615452		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:224575G>A	ENST00000264932.6	+	3	366	c.251G>A	c.(250-252)gGg>gAg	p.G84E	SDHA_ENST00000510361.1_Missense_Mutation_p.G84E|SDHA_ENST00000504309.1_Missense_Mutation_p.G84E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	84					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCTGAGGCAGGGTTTAATACA	0.522									Familial Paragangliomas																																								0													121	119	120					5																	224575		2203	4300	6503	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.251G>A	5.37:g.224575G>A	ENSP00000264932:p.Gly84Glu		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.G84E	ENST00000264932.6	37	c.251	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	g	24.9	4.577752	0.86645	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	D;D;D	0.83250	-1.7;-1.7;-1.7	5.56	5.56	0.83823	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.93278	0.7858	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.975;0.996;0.998;0.998	D	0.94344	0.7573	10	0.87932	D	0	.	17.4364	0.87553	0.0:0.0:1.0:0.0	.	84;84;84;84;90	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	E	84	ENSP00000264932:G84E;ENSP00000426514:G84E;ENSP00000427703:G84E	ENSP00000264932:G84E	G	+	2	0	SDHA	277575	1.000000	0.71417	0.976000	0.42696	0.562000	0.35680	9.385000	0.97223	2.794000	0.96219	0.539000	0.68188	GGG	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.522	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		224575	1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	A	A	224575	G	A	224575	3	1	117	1	0	0	0	0	1	0	0	0	13993	1232	43	4	261	4	SDHA	5	224575	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		224575	180690685	375	17843										
AHRR	57491	genome.wustl.edu	37	chr5	434222	434222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctcacccgccgagcccgtCccccagtgcctactccagcc	7	23	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:434222C>T	ENST00000505113.1	+	11	1423	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	AHRR_ENST00000316418.5_Missense_Mutation_p.S478F|AHRR_ENST00000512529.1_Missense_Mutation_p.S306F|AHRR_ENST00000506456.1_Missense_Mutation_p.S316F	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	460					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGAGCCCGTCCCCCAGTGCC	0.701																																																	0													27	34	32					5																	434222		2164	4259	6423	SO:0001583	missense	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1379C>T	5.37:g.434222C>T	ENSP00000424601:p.Ser460Phe		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.S478F	ENST00000505113.1	37	c.1433	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	C	2.792	-0.251054	0.05867	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.43688	2.29;2.28;1.96;1.96;0.94	4.69	1.7	0.24286	.	1.613130	0.03029	N	0.151850	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	P;P;B	0.41748	0.681;0.761;0.006	B;B;B	0.33121	0.158;0.135;0.005	T	0.16364	-1.0405	10	0.09843	T	0.71	.	3.5103	0.07705	0.1997:0.5868:0.0:0.2134	.	316;460;478	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	F	460;478;306;316;115	ENSP00000424601:S460F;ENSP00000323816:S478F;ENSP00000424880:S306F;ENSP00000426932:S316F;ENSP00000426076:S115F	ENSP00000323816:S478F	S	+	2	0	AHRR	487222	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.180000	0.16860	0.514000	0.28300	0.455000	0.32223	TCC	AHRR	-	NULL		0.701	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	C	NM_020731		434222	1	no_errors	ENST00000316418	ensembl	human	known	70_37	missense	SNP	0.002	T	T	434222	C	T	434222	3	4	117	1	0	0	0	0	1	0	0	0	417	855	30	1	1479	1	AHRR	5	434222	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	209647	434222	180481038	376	17844										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5239271	5239271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgggccctccagagagttgGatgtgacaatgtccttggat	13	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:5239271G>A	ENST00000274181.7	+	15	2300	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	721	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGAGAGTTGGATGTGACAAT	0.493																																																	0													279	268	271					5																	5239271		2034	4184	6218	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2162G>A	5.37:g.5239271G>A	ENSP00000274181:p.Gly721Glu		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G721E	ENST00000274181.7	37	c.2162	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.092146	0.94149	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.69685	-0.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93533	0.6871	10	0.87932	D	0	.	18.925	0.92541	0.0:0.0:1.0:0.0	.	721;721	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	721	ENSP00000274181:G721E	ENSP00000274181:G721E	G	+	2	0	ADAMTS16	5292271	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	8.020000	0.88740	2.764000	0.94973	0.650000	0.86243	GGA	ADAMTS16	-	prints_Peptidase_M12B_ADAM-TS		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5239271	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5239271	G	A	5239271	3	1	117	1	0	0	0	0	1	0	0	0	261	1174	41	1	2220	1	ADAMTS16	5	5239271	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4805049	5239271	175675989	377	17845										
DNAH5	1767	genome.wustl.edu	37	chr5	13868027	13868027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcagcttctcccaagcataGtgcagtgtatcaactttgtc	8	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:13868027G>A	ENST00000265104.4	-	25	4013	c.3909C>T	c.(3907-3909)caC>caT	p.H1303H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1303	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAAGCATAGTGCAGTGTAT	0.418									Kartagener syndrome																																								0													121	104	110					5																	13868027		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3909C>T	5.37:g.13868027G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H1303	ENST00000265104.4	37	c.3909	CCDS3882.1	5																																																																																			DNAH5	-	NULL		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13868027	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	silent	SNP	0.979	A	A	13868027	G	A	13868027	2	1	117	1	0	0	0	0	0	0	0	1	4614	1020	36	4		4	DNAH5	5	13868027	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8628756	13868027	167047233	378	17846										
FAM105A	54491	genome.wustl.edu	37	chr5	14609093	14609093	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcttcatgatgaatcacctGaattctgtaggcgacacatg	9	9	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:14609093G>A	ENST00000274217.3	+	7	984	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	288	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGAATCACCTGAATTCTGTAG	0.433																																																	0													156	160	159					5																	14609093		2203	4300	6503	SO:0001819	synonymous_variant	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.864G>A	5.37:g.14609093G>A			Q53H50|Q9H037	Silent	SNP	prints_FAM105,prints_FAM105A	p.L288	ENST00000274217.3	37	c.864	CCDS3884.1	5																																																																																			FAM105A	-	prints_FAM105,prints_FAM105A		0.433	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	G	NM_019018		14609093	1	no_errors	ENST00000274217	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14609093	G	A	14609093	2	1	117	1	0	0	0	0	0	0	0	1	5402	1277	45	1		1	FAM105A	5	14609093	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	741066	14609093	166306167	379	17847										
NPR3	4883	genome.wustl.edu	37	chr5	32712325	32712325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccagtggcccggcttgcatCgcactgggacctgcccatgc	13	16	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:32712325C>T	ENST00000265074.8	+	1	786	c.443C>T	c.(442-444)tCg>tTg	p.S148L	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.S148L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGCTTGCATCGCACTGGGAC	0.701																																																	0													45	51	49					5																	32712325		1990	4125	6115	SO:0001583	missense	4883				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.443C>T	5.37:g.32712325C>T	ENSP00000265074:p.Ser148Leu		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.S148L	ENST00000265074.8	37	c.443	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538539	0.65085	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83250	-1.7;-1.7	4.66	3.79	0.43588	Extracellular ligand-binding receptor (1);	0.244488	0.43110	D	0.000616	D	0.87557	0.6207	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.55055	0.767;0.704	D	0.88224	0.2899	10	0.56958	D	0.05	-9.6613	12.4316	0.55577	0.0:0.9178:0.0:0.0822	.	148;148	P17342;Q60I31	ANPRC_HUMAN;.	L	148	ENSP00000265074:S148L;ENSP00000398028:S148L	ENSP00000265074:S148L	S	+	2	0	NPR3	32748082	1.000000	0.71417	0.778000	0.31720	0.562000	0.35680	3.624000	0.54231	1.193000	0.43086	0.561000	0.74099	TCG	NPR3	-	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt		0.701	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	C	NM_000908		32712325	1	no_errors	ENST00000265074	ensembl	human	known	70_37	missense	SNP	0.980	T	T	32712325	C	T	32712325	3	4	117	1	0	0	0	0	1	0	0	0	10620	893	31	1	445	1	NPR3	5	32712325	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	18103232	32712325	148202935	380	17848										
RAI14	26064	genome.wustl.edu	37	chr5	34823462	34823462	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtccttagtgtgcagaagcaGatgaaactcggtcttgtctc	11	9	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:34823462G>C	ENST00000265109.3	+	15	1802	c.1515G>C	c.(1513-1515)caG>caC	p.Q505H	RAI14_ENST00000428746.2_Missense_Mutation_p.Q505H|RAI14_ENST00000506376.1_Missense_Mutation_p.Q497H|RAI14_ENST00000397449.1_Missense_Mutation_p.Q498H|RAI14_ENST00000512629.1_Missense_Mutation_p.Q476H|RAI14_ENST00000503673.1_Missense_Mutation_p.Q505H|RAI14_ENST00000515799.1_Missense_Mutation_p.Q508H	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	505						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGCAGAAGCAGATGAAACTCG	0.438																																																	0													61	60	60					5																	34823462		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1515G>C	5.37:g.34823462G>C	ENSP00000265109:p.Gln505His		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q508H	ENST00000265109.3	37	c.1524	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764231	0.49574	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.64	2.87	0.33458	.	.	.	.	.	T	0.26593	0.0650	L	0.29908	0.895	0.34805	D	0.737083	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.85130	0.997;0.993;0.979;0.993	T	0.27706	-1.0066	9	0.56958	D	0.05	-12.9657	9.3677	0.38234	0.3384:0.0:0.6616:0.0	.	497;476;508;505	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	H	505;476;505;505;508;497;498	ENSP00000265109:Q505H;ENSP00000422377:Q476H;ENSP00000388725:Q505H;ENSP00000422942:Q505H;ENSP00000427123:Q508H;ENSP00000423854:Q497H;ENSP00000380591:Q498H	ENSP00000265109:Q505H	Q	+	3	2	RAI14	34859219	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.074000	0.30703	0.749000	0.32854	0.555000	0.69702	CAG	RAI14	-	NULL		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	G	NM_015577		34823462	1	no_errors	ENST00000515799	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34823462	G	C	34823462	3	2	117	1	0	0	0	0	1	0	0	0	13038	933	33	1	1634	1	RAI14	5	34823462	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2111137	34823462	146091798	381	17849										
RAI14	26064	genome.wustl.edu	37	chr5	34823849	34823849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaggacatgaaagaagccatGaataggatgatagatgaact	12	4	0	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:34823849G>A	ENST00000265109.3	+	15	2189	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	RAI14_ENST00000428746.2_Missense_Mutation_p.M634I|RAI14_ENST00000506376.1_Missense_Mutation_p.M626I|RAI14_ENST00000397449.1_Missense_Mutation_p.M627I|RAI14_ENST00000512629.1_Missense_Mutation_p.M605I|RAI14_ENST00000503673.1_Missense_Mutation_p.M634I|RAI14_ENST00000515799.1_Missense_Mutation_p.M637I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	634						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAGAAGCCATGAATAGGATGA	0.433																																																	0													76	80	78					5																	34823849		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1902G>A	5.37:g.34823849G>A	ENSP00000265109:p.Met634Ile		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M637I	ENST00000265109.3	37	c.1911	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689489	0.68271	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.36157	1.28;1.27;1.28;1.28;1.31;1.36;1.34	5.68	5.68	0.88126	.	.	.	.	.	T	0.42832	0.1220	L	0.32530	0.975	0.46028	D	0.998823	P;P;D;P	0.53462	0.885;0.915;0.96;0.915	B;B;P;B	0.51615	0.392;0.395;0.675;0.395	T	0.12192	-1.0557	9	0.41790	T	0.15	-22.8105	19.7964	0.96487	0.0:0.0:1.0:0.0	.	626;605;637;634	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	634;605;634;634;637;626;627	ENSP00000265109:M634I;ENSP00000422377:M605I;ENSP00000388725:M634I;ENSP00000422942:M634I;ENSP00000427123:M637I;ENSP00000423854:M626I;ENSP00000380591:M627I	ENSP00000265109:M634I	M	+	3	0	RAI14	34859606	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.762000	0.62250	2.683000	0.91414	0.555000	0.69702	ATG	RAI14	-	NULL		0.433	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	G	NM_015577		34823849	1	no_errors	ENST00000515799	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34823849	G	A	34823849	3	1	117	1	0	0	0	0	1	0	0	0	13038	1290	45	1	2021	1	RAI14	5	34823849	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	387	34823849	146091411	382	17850										
PRLR	5618	genome.wustl.edu	37	chr5	35065310	35065310	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttctcagcttgattctgttCaagtgatggtggggcctctt	11	8	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:35065310C>G	ENST00000382002.5	-	10	2176	c.1750G>C	c.(1750-1752)Gaa>Caa	p.E584Q	PRLR_ENST00000342362.5_Missense_Mutation_p.E483Q|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.E483Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	584					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGATTCTGTTCAAGTGATGGT	0.507																																																	0													100	90	93					5																	35065310		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1750G>C	5.37:g.35065310C>G	ENSP00000371432:p.Glu584Gln		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E584Q	ENST00000382002.5	37	c.1750	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.446736	0.00178	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87103	-2.21;-1.28;-2.21	5.67	2.9	0.33743	.	0.900431	0.09928	N	0.737570	T	0.68274	0.2983	N	0.04260	-0.245	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.53114	-0.8484	10	0.02654	T	1	-0.0201	7.9466	0.29991	0.146:0.2907:0.5633:0.0	.	584;483	P16471;P16471-2	PRLR_HUMAN;.	Q	483;584;483	ENSP00000339213:E483Q;ENSP00000371432:E584Q;ENSP00000422556:E483Q	ENSP00000339213:E483Q	E	-	1	0	PRLR	35101067	0.009000	0.17119	0.000000	0.03702	0.184000	0.23303	1.782000	0.38654	0.323000	0.23307	0.650000	0.86243	GAA	PRLR	-	NULL		0.507	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	C			35065310	-1	no_errors	ENST00000382002	ensembl	human	known	70_37	missense	SNP	0.001	G	G	35065310	C	G	35065310	3	3	117	1	0	0	0	0	1	0	0	0	12558	835	29	1	122	1	PRLR	5	35065310	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	241461	35065310	145849950	383	17851										
C5orf42	65250	genome.wustl.edu	37	chr5	37125461	37125461	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcatccaggcttgaatctctCttctttccttgtcagttctt	5	12	6	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37125461C>G	ENST00000508244.1	-	45	8774	c.8681G>C	c.(8680-8682)aGa>aCa	p.R2894T	C5orf42_ENST00000425232.2_Missense_Mutation_p.R2894T|C5orf42_ENST00000274258.7_Missense_Mutation_p.R1792T|C5orf42_ENST00000512288.1_Intron			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2894						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAATCTCTCTTCTTTCCTT	0.358																																																	0													175	164	167					5																	37125461		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8681G>C	5.37:g.37125461C>G	ENSP00000421690:p.Arg2894Thr		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.R2894T	ENST00000508244.1	37	c.8681	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254838	0.80135	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	6.07	3.37	0.38596	.	0.329365	0.33309	N	0.005048	T	0.67002	0.2847	M	0.72118	2.19	0.29078	N	0.882861	D;D	0.63046	0.992;0.992	P;P	0.59357	0.856;0.856	T	0.63355	-0.6656	10	0.62326	D	0.03	.	7.693	0.28579	0.0:0.7504:0.0:0.2496	.	2894;1792	E9PH94;Q9H799	.;CE042_HUMAN	T	2894;2894;1792;1960	ENSP00000421690:R2894T;ENSP00000389014:R2894T;ENSP00000274258:R1792T;ENSP00000424223:R1960T	ENSP00000274258:R1792T	R	-	2	0	C5orf42	37161218	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.256000	0.32921	0.913000	0.36797	-0.136000	0.14681	AGA	C5orf42	-	NULL		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37125461	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37125461	C	G	37125461	3	3	117	1	0	0	0	0	1	0	0	0	2306	913	32	1	940	1	C5orf42	5	37125461	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2060151	37125461	143789799	384	17852										
C5orf42	65250	genome.wustl.edu	37	chr5	37224796	37224796	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttcgatttaattgtgcttGataccataaagtttttttgt	6	5	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37224796G>C	ENST00000508244.1	-	12	2431	c.2338C>G	c.(2338-2340)Caa>Gaa	p.Q780E	C5orf42_ENST00000425232.2_Missense_Mutation_p.Q780E|C5orf42_ENST00000274258.7_De_novo_Start_OutOfFrame			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	780						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AATTGTGCTTGATACCATAAA	0.343																																																	0													263	211	227					5																	37224796		692	1591	2283	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2338C>G	5.37:g.37224796G>C	ENSP00000421690:p.Gln780Glu		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.Q780E	ENST00000508244.1	37	c.2338	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755823	0.31046	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.25085	1.82;1.82	5.58	5.58	0.84498	.	0.787332	0.11399	U	0.568053	T	0.48333	0.1494	M	0.67953	2.075	0.80722	D	1	D	0.64830	0.994	P	0.61397	0.888	T	0.11817	-1.0572	10	0.33940	T	0.23	-1.2392	16.3097	0.82864	0.0:0.0:1.0:0.0	.	780	E9PH94	.	E	780	ENSP00000421690:Q780E;ENSP00000389014:Q780E	ENSP00000389014:Q780E	Q	-	1	0	C5orf42	37260553	1.000000	0.71417	0.995000	0.50966	0.582000	0.36321	5.074000	0.64401	2.622000	0.88805	0.650000	0.86243	CAA	C5orf42	-	NULL		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37224796	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37224796	G	C	37224796	3	2	117	1	0	0	0	0	1	0	0	0	2306	1299	45	1	7415	1	C5orf42	5	37224796	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	99335	37224796	143690464	385	17853										
NUP155	9631	genome.wustl.edu	37	chr5	37310788	37310788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattaatgcccctgtgagttCtttgtccctgattacaagat	7	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37310788C>G	ENST00000231498.3	-	23	2697	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q	NUP155_ENST00000502533.1_5'Flank|NUP155_ENST00000513532.1_Intron|NUP155_ENST00000381843.2_Missense_Mutation_p.E773Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	832					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGTGAGTTCTTTGTCCCTG	0.383																																																	0													139	143	142					5																	37310788		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2494G>C	5.37:g.37310788C>G	ENSP00000231498:p.Glu832Gln		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.E832Q	ENST00000231498.3	37	c.2494	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897746	0.91962	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056	T;T	0.77098	-1.07;-1.07	5.92	5.92	0.95590	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.225182	0.47852	D	0.000213	D	0.82614	0.5075	L	0.53249	1.67	0.80722	D	1	P	0.42908	0.793	P	0.54026	0.74	T	0.75428	-0.3321	10	0.12103	T	0.63	-3.7354	20.3167	0.98654	0.0:1.0:0.0:0.0	.	832	O75694	NU155_HUMAN	Q	832;773;794	ENSP00000231498:E832Q;ENSP00000371265:E773Q	ENSP00000231498:E832Q	E	-	1	0	NUP155	37346545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.458000	0.80787	2.809000	0.96659	0.557000	0.71058	GAA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C		0.383	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37310788	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37310788	C	G	37310788	3	3	117	1	0	0	0	0	1	0	0	0	10780	922	32	1	1733	1	NUP155	5	37310788	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	85992	37310788	143604472	386	17854										
NUP155	9631	genome.wustl.edu	37	chr5	37331856	37331856	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttactcacaagtagatgcctCagttgatctacaggtctaag	8	9	4	2	rs566167474		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37331856C>A	ENST00000231498.3	-	14	1763	c.1560G>T	c.(1558-1560)ctG>ctT	p.L520L	NUP155_ENST00000513532.1_Silent_p.L520L|NUP155_ENST00000381843.2_Silent_p.L461L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	520					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGATGCCTCAGTTGATCTA	0.338																																																	0													91	91	91					5																	37331856		2203	4300	6503	SO:0001819	synonymous_variant	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1560G>T	5.37:g.37331856C>A			Q9UBE9|Q9UFL5	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.L520	ENST00000231498.3	37	c.1560	CCDS3921.1	5																																																																																			NUP155	-	NULL		0.338	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37331856	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37331856	C	A	37331856	2	1	117	1	0	0	0	0	0	0	0	1	10780	813	29	3		3	NUP155	5	37331856	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	21068	37331856	143583404	387	17855										
NUP155	9631	genome.wustl.edu	37	chr5	37341221	37341221	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaagagctctatgtacttttGaaggcttttccacggttgaa	9	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37341221G>C	ENST00000231498.3	-	11	1420	c.1217C>G	c.(1216-1218)tCa>tGa	p.S406*	NUP155_ENST00000513532.1_Nonsense_Mutation_p.S406*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.S347*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	406					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGTACTTTTGAAGGCTTTTC	0.373																																																	0													75	71	73					5																	37341221		2203	4300	6503	SO:0001587	stop_gained	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1217C>G	5.37:g.37341221G>C	ENSP00000231498:p.Ser406*		Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.S406*	ENST00000231498.3	37	c.1217	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.737103	0.97801	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.53	3.75	0.43078	.	0.210051	0.42821	D	0.000654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.0747	11.8799	0.52568	0.1411:0.0:0.8589:0.0	.	.	.	.	X	406;347;368;406	.	ENSP00000231498:S406X	S	-	2	0	NUP155	37376978	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.924000	0.70054	0.808000	0.34231	0.591000	0.81541	TCA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N		0.373	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	G	NM_153485, NM_004298		37341221	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	37341221	G	C	37341221	4	2	117	1	0	0	0	0	0	1	0	0	10780	1294	45	1	3058	1	NUP155	5	37341221	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9365	37341221	143574039	388	17856										
EGFLAM	133584	genome.wustl.edu	37	chr5	38412643	38412643	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggttgccatcatcgtaagtGagaccaaaatcaaactaggg	11	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:38412643G>A	ENST00000354891.3	+	11	1733	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EGFLAM_ENST00000336740.6_Missense_Mutation_p.E229K|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000322350.5_Missense_Mutation_p.E463K	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	463	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCGTAAGTGAGACCAAAAT	0.488																																					Colon(62;485 1295 3347 17454)												0													108	105	106					5																	38412643		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1387G>A	5.37:g.38412643G>A	ENSP00000346964:p.Glu463Lys		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.E463K	ENST00000354891.3	37	c.1387	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218152	0.58560	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79454	-1.27;-1.27;-1.27	6.07	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.198155	0.52532	N	0.000061	T	0.69278	0.3093	L	0.31845	0.965	0.80722	D	1	B;P;B	0.35575	0.374;0.51;0.409	B;B;B	0.35182	0.1;0.174;0.197	T	0.68424	-0.5412	10	0.36615	T	0.2	.	15.2986	0.73928	0.0667:0.0:0.9333:0.0	.	229;463;463	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	K	463;463;229;229	ENSP00000346964:E463K;ENSP00000313084:E463K;ENSP00000337607:E229K	ENSP00000313084:E463K	E	+	1	0	EGFLAM	38448400	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.359000	0.59449	1.589000	0.49982	0.650000	0.86243	GAG	EGFLAM	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.488	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38412643	1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38412643	G	A	38412643	3	1	117	1	0	0	0	0	1	0	0	0	4976	1291	45	1	1443	1	EGFLAM	5	38412643	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1071422	38412643	142502617	389	17857										
EGFLAM	133584	genome.wustl.edu	37	chr5	38427292	38427292	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcaaagacttcctgtccatCaacttggcagggggccacgt	11	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:38427292C>G	ENST00000354891.3	+	14	2338	c.1992C>G	c.(1990-1992)atC>atG	p.I664M	EGFLAM_ENST00000336740.6_Missense_Mutation_p.I430M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I30M|EGFLAM_ENST00000322350.5_Missense_Mutation_p.I664M|EGFLAM-AS1_ENST00000508986.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	664	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCCTGTCCATCAACTTGGCAG	0.522																																					Colon(62;485 1295 3347 17454)												0													150	151	150					5																	38427292		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1992C>G	5.37:g.38427292C>G	ENSP00000346964:p.Ile664Met		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.I664M	ENST00000354891.3	37	c.1992	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281842	0.59758	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81078	-0.57;-0.57;-0.57;-1.45	5.76	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.100948	0.64402	D	0.000002	D	0.88463	0.6443	M	0.87180	2.865	0.80722	D	1	P;D;P	0.53745	0.889;0.962;0.921	P;P;P	0.60789	0.718;0.879;0.747	D	0.89220	0.3570	10	0.72032	D	0.01	7.3945	9.3373	0.38058	0.0:0.7349:0.0:0.2651	.	430;664;664	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	M	664;664;430;30;430	ENSP00000346964:I664M;ENSP00000313084:I664M;ENSP00000337607:I430M;ENSP00000380385:I30M	ENSP00000313084:I664M	I	+	3	3	EGFLAM	38463049	0.994000	0.37717	0.993000	0.49108	0.954000	0.61252	0.361000	0.20267	1.414000	0.47017	0.655000	0.94253	ATC	EGFLAM	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	C	NM_152403		38427292	1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38427292	C	G	38427292	3	3	117	1	0	0	0	0	1	0	0	0	4976	816	29	1	2060	1	EGFLAM	5	38427292	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	14649	38427292	142487968	390	17858										
RICTOR	253260	genome.wustl.edu	37	chr5	38975684	38975684	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gattcccattttactggctaGaaatcgtgcttctctgtctt	7	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:38975684G>C	ENST00000357387.3	-	10	874	c.844C>G	c.(844-846)Cta>Gta	p.L282V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L282V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTACTGGCTAGAAATCGTGCT	0.403																																																	0													88	87	87					5																	38975684		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.844C>G	5.37:g.38975684G>C	ENSP00000349959:p.Leu282Val			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L282V	ENST00000357387.3	37	c.844	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907366	0.52333	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.47528	0.84;0.84	5.93	4.97	0.65823	Armadillo-type fold (1);	0.070696	0.64402	D	0.000018	T	0.41858	0.1177	L	0.40543	1.245	0.45946	D	0.998774	P;B;P	0.39847	0.493;0.03;0.691	B;B;B	0.38500	0.116;0.028;0.275	T	0.42682	-0.9437	10	0.87932	D	0	-9.7536	13.7824	0.63089	0.0786:0.0:0.9214:0.0	.	282;282;282	E7ETT0;Q6R327;Q6R327-3	.;RICTR_HUMAN;.	V	282	ENSP00000349959:L282V;ENSP00000296782:L282V	ENSP00000296782:L282V	L	-	1	2	RICTOR	39011441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.616000	0.46376	1.353000	0.45828	0.555000	0.69702	CTA	RICTOR	-	superfamily_ARM-type_fold		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38975684	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38975684	G	C	38975684	3	2	117	1	0	0	0	0	1	0	0	0	13388	933	33	1	4398	1	RICTOR	5	38975684	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	548392	38975684	141939576	391	17859										
C7	730	genome.wustl.edu	37	chr5	40945412	40945412	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagcgctccttttttagatCttcatcatcttcttcacgca	5	12	6	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:40945412C>A	ENST00000313164.9	+	7	1039	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	227	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TTTTTTAGATCTTCATCATCT	0.313																																																	0													146	137	139					5																	40945412		1864	4106	5970	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.680C>A	5.37:g.40945412C>A	ENSP00000322061:p.Ser227Tyr		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S227Y	ENST00000313164.9	37	c.680	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899322	0.52227	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	T	0.64803	-0.12	5.15	1.39	0.22231	Membrane attack complex component/perforin (MACPF) domain (1);	.	.	.	.	T	0.40595	0.1123	N	0.14661	0.345	0.09310	N	1	P	0.45283	0.855	P	0.47299	0.543	T	0.34900	-0.9810	9	0.02654	T	1	-3.612	4.2331	0.10613	0.0:0.5344:0.1856:0.28	.	227	P10643	CO7_HUMAN	Y	227	ENSP00000322061:S227Y	ENSP00000322061:S227Y	S	+	2	0	C7	40981169	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.051000	0.11885	0.414000	0.25790	0.585000	0.79938	TCT	C7	-	NULL		0.313	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	C			40945412	1	no_errors	ENST00000313164	ensembl	human	known	70_37	missense	SNP	0.000	A	A	40945412	C	A	40945412	3	1	117	1	0	0	0	0	1	0	0	0	2380	913	32	3	706	3	C7	5	40945412	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1969728	40945412	139969848	392	17860										
C6	729	genome.wustl.edu	37	chr5	41176670	41176670	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtaatgagtcccaaagtcatCgaatattcggctgtacaaag	9	8	1	1	rs373781885	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:41176670C>G	ENST00000263413.3	-	8	1339	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D359H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	359	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAAAGTCATCGAATATTCGG	0.433																																																	0													130	124	126					5																	41176670		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1075G>C	5.37:g.41176670C>G	ENSP00000263413:p.Asp359His			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.D359H	ENST00000263413.3	37	c.1075	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922431	0.73213	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84873	-1.91;-1.91	5.55	4.69	0.59074	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.298318	0.41938	D	0.000788	D	0.91683	0.7371	M	0.77313	2.365	0.53688	D	0.99997	D	0.76494	0.999	D	0.73380	0.98	D	0.92686	0.6162	10	0.72032	D	0.01	-12.9599	14.292	0.66284	0.0:0.9295:0.0:0.0705	.	359	P13671	CO6_HUMAN	H	359	ENSP00000338861:D359H;ENSP00000263413:D359H	ENSP00000263413:D359H	D	-	1	0	C6	41212427	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.529000	0.60588	1.589000	0.49982	0.591000	0.81541	GAT	C6	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	C			41176670	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41176670	C	G	41176670	3	3	117	1	0	0	0	0	1	0	0	0	2320	884	31	1	1773	1	C6	5	41176670	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	231258	41176670	139738590	393	17861										
PAIP1	10605	genome.wustl.edu	37	chr5	43527498	43527498	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttactgttttcgcttacgctCtgattccaaacaaaactttt	4	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:43527498C>T	ENST00000306846.3	-	11	1652	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PAIP1_ENST00000338972.4_Missense_Mutation_p.E362K|RP11-159F24.5_ENST00000504277.1_RNA|PAIP1_ENST00000436644.2_Missense_Mutation_p.E395K|PAIP1_ENST00000514514.1_3'UTR	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	474	PABPC1-interacting motif-1 (PAM1).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CGCTTACGCTCTGATTCCAAA	0.338																																																	0													65	60	62					5																	43527498		2202	4289	6491	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1420G>A	5.37:g.43527498C>T	ENSP00000302768:p.Glu474Lys		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E474K	ENST00000306846.3	37	c.1420	CCDS3947.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588043	0.86851	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972	T;T;T	0.37411	1.2;1.28;1.32	5.61	5.61	0.85477	.	0.057678	0.64402	D	0.000002	T	0.40322	0.1112	L	0.27053	0.805	0.80722	D	1	D;P	0.55172	0.97;0.932	P;P	0.51833	0.681;0.655	T	0.09037	-1.0693	10	0.37606	T	0.19	-13.7702	19.6383	0.95746	0.0:1.0:0.0:0.0	.	474;395	Q9H074;Q9H074-2	PAIP1_HUMAN;.	K	474;395;362	ENSP00000302768:E474K;ENSP00000387729:E395K;ENSP00000339622:E362K	ENSP00000302768:E474K	E	-	1	0	PAIP1	43563255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.053000	0.76641	2.631000	0.89168	0.655000	0.94253	GAG	PAIP1	-	NULL		0.338	PAIP1-001	KNOWN	basic|CCDS	protein_coding	PAIP1	HGNC	protein_coding	OTTHUMT00000214024.1	C	NM_006451		43527498	-1	no_errors	ENST00000306846	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43527498	C	T	43527498	3	4	117	1	0	0	0	0	1	0	0	0	11420	922	32	1	23	1	PAIP1	5	43527498	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2350828	43527498	137387762	394	17862										
PARP8	79668	genome.wustl.edu	37	chr5	50128632	50128632	+	Frame_Shift_Del	DEL	A	A	-													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagggatgaacaagaaacagAaggtgtcagccaaggacgag							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:50128632delA	ENST00000281631.5	+	23	2409	c.2251delA	c.(2251-2253)aagfs	p.K751fs	PARP8_ENST00000503750.2_Frame_Shift_Del_p.K709fs|PARP8_ENST00000514067.2_Frame_Shift_Del_p.K709fs|PARP8_ENST00000505697.2_Frame_Shift_Del_p.K751fs|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Frame_Shift_Del_p.K462fs|PARP8_ENST00000505554.1_Frame_Shift_Del_p.K730fs	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	751	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGAAACAGAAGGTGTCAGC	0.418																																																	0													151	128	136					5																	50128632		2203	4300	6503	SO:0001589	frameshift_variant	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2251delA	5.37:g.50128632delA	ENSP00000281631:p.Lys751fs		Q3KRB7|Q6DHZ1|Q9H754	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K751fs	ENST00000281631.5	37	c.2251	CCDS3954.1	5																																																																																			PARP8	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.418	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	A	NM_024615		50128632	1	no_errors	ENST00000281631	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	50128632	A	-	50128632	7	5	117	1	0	1	0	1	0	0	0	0	11489	247	9	0	2341	0	PARP8	5	50128632	Frame_Shift_Del	DEL	A	TCGA-EK-A3GK-01A-11D-A20U-09	6601134	50128632	130786628	395	17863										
SLC30A5	64924	genome.wustl.edu	37	chr5	68417706	68417706	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatctgcgggtggaggcatGaatgctaacatgaggggtga	18	5	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:68417706G>A	ENST00000396591.3	+	13	2365	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	585					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTGGAGGCATGAATGCTAACA	0.448																																																	0													90	87	88					5																	68417706		2203	4300	6503	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1755G>A	5.37:g.68417706G>A	ENSP00000379836:p.Met585Ile		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.M585I	ENST00000396591.3	37	c.1755	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684141	0.47991	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.61742	0.08	4.92	4.92	0.64577	.	0.075172	0.85682	D	0.000000	T	0.51329	0.1668	L	0.35542	1.07	0.80722	D	1	B;B;B	0.20671	0.024;0.033;0.047	B;B;B	0.28385	0.089;0.007;0.015	T	0.47484	-0.9114	10	0.40728	T	0.16	.	17.8933	0.88879	0.0:0.0:1.0:0.0	.	414;414;585	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	I	585;180	ENSP00000379836:M585I	ENSP00000379836:M585I	M	+	3	0	SLC30A5	68453462	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.168000	0.77570	2.543000	0.85770	0.563000	0.77884	ATG	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.448	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	G			68417706	1	no_errors	ENST00000396591	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68417706	G	A	68417706	3	1	117	1	0	0	0	0	1	0	0	0	14588	1290	45	1	1893	1	SLC30A5	5	68417706	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	18289074	68417706	112497554	396	17864										
IQGAP2	10788	genome.wustl.edu	37	chr5	75970513	75970513	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atctatgaacaattatttatCagagacgtatcaggaattca	6	6	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:75970513C>G	ENST00000274364.6	+	27	3803	c.3506C>G	c.(3505-3507)tCa>tGa	p.S1169*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.S671*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.S665*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.S665*	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1169					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATTATTTATCAGAGACGTAT	0.443																																																	0													66	65	65					5																	75970513		2203	4300	6503	SO:0001587	stop_gained	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3506C>G	5.37:g.75970513C>G	ENSP00000274364:p.Ser1169*		A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.S1169*	ENST00000274364.6	37	c.3506	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932122	0.92389	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	.	.	.	5.67	5.67	0.87782	.	0.126644	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.2268	19.7552	0.96285	0.0:1.0:0.0:0.0	.	.	.	.	X	1169;671;1119;665;665	.	ENSP00000274364:S1169X	S	+	2	0	IQGAP2	76006269	1.000000	0.71417	0.982000	0.44146	0.529000	0.34654	7.818000	0.86416	2.679000	0.91253	0.591000	0.81541	TCA	IQGAP2	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.443	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	C	NM_006633		75970513	1	no_errors	ENST00000274364	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	75970513	C	G	75970513	4	3	117	1	0	0	0	0	0	1	0	0	7835	838	29	1	3612	1	IQGAP2	5	75970513	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7552807	75970513	104944747	397	17865										
CMYA5	202333	genome.wustl.edu	37	chr5	79030219	79030219	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acaaccaagcctgcggatgtCaaagaaacaaaaatggaaga	9	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:79030219C>T	ENST00000446378.2	+	2	5662	c.5631C>T	c.(5629-5631)gtC>gtT	p.V1877V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1877					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGCGGATGTCAAAGAAACAA	0.363																																																	0													66	65	65					5																	79030219		1824	4086	5910	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5631C>T	5.37:g.79030219C>T			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V1877	ENST00000446378.2	37	c.5631	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.363	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79030219	1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.000	T	T	79030219	C	T	79030219	2	4	117	1	0	0	0	0	0	0	0	1	3595	813	29	1		1	CMYA5	5	79030219	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3059706	79030219	101885041	398	17866										
CMYA5	202333	genome.wustl.edu	37	chr5	79054713	79054713	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggaggagccacaagatgatCaagaagtaaatggtaggatt	13	4	1	3	rs374540188		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:79054713C>T	ENST00000446378.2	+	7	11279	c.11248C>T	c.(11248-11250)Caa>Taa	p.Q3750*	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3750	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAAGATGATCAAGAAGTAAA	0.368																																																	0													143	136	138					5																	79054713		1956	4152	6108	SO:0001587	stop_gained	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11248C>T	5.37:g.79054713C>T	ENSP00000394770:p.Gln3750*		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q3750*	ENST00000446378.2	37	c.11248	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	53	20.618437	0.99932	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.07	4.13	0.48395	.	0.355187	0.21885	N	0.067664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.8698	0.57958	0.2182:0.7817:0.0:0.0	.	.	.	.	X	3750	.	ENSP00000394770:Q3750X	Q	+	1	0	CMYA5	79090469	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.463000	0.35277	2.631000	0.89168	0.561000	0.74099	CAA	CMYA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79054713	1	no_errors	ENST00000446378	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	79054713	C	T	79054713	4	4	117	1	0	0	0	0	0	1	0	0	3595	827	29	1	11274	1	CMYA5	5	79054713	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	24494	79054713	101860547	399	17867										
ACSL6	23305	genome.wustl.edu	37	chr5	131326618	131326618	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atagtagtgggtaagtagctGagggccagacccaatcacag	13	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:131326618G>C	ENST00000379240.1	-	3	391	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	ACSL6_ENST00000543479.1_Missense_Mutation_p.Q80E|ACSL6_ENST00000379249.3_Missense_Mutation_p.Q80E|ACSL6_ENST00000357096.1_Missense_Mutation_p.Q45E|ACSL6_ENST00000379244.1_Missense_Mutation_p.Q80E|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000296869.4_Missense_Mutation_p.Q105E|ACSL6_ENST00000379272.2_Missense_Mutation_p.Q80E|ACSL6_ENST00000379255.1_Missense_Mutation_p.Q45E|ACSL6_ENST00000431707.1_Missense_Mutation_p.Q45E|ACSL6_ENST00000379264.2_Missense_Mutation_p.Q105E|ACSL6_ENST00000379246.1_Missense_Mutation_p.Q91E|ACSL6_ENST00000477640.1_5'Flank			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	80					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGTAGCTGAGGGCCAGAC	0.612																																																	0													111	94	100					5																	131326618		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.238C>G	5.37:g.131326618G>C	ENSP00000368542:p.Gln80Glu		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q105E	ENST00000379240.1	37	c.313		5	.	.	.	.	.	.	.	.	.	.	g	1.130	-0.652732	0.03480	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	2.04;2.78;2.62;3.45;3.45;2.77;2.78;2.78;2.78;2.63;2.78;0.79;2.9;2.9;2.9;2.9	5.7	2.57	0.30868	.	0.373934	0.30528	N	0.009435	T	0.15565	0.0375	N	0.01096	-1.015	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.0;0.001;0.001	T	0.12528	-1.0544	10	0.07482	T	0.82	.	10.4317	0.44411	0.0:0.1989:0.5841:0.2169	.	80;80;70;80;45;105;105	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	E	80;105;80;45;45;105;91;80;80;45;80;45;80;80;80;80;45	ENSP00000368551:Q80E;ENSP00000368566:Q105E;ENSP00000368574:Q80E;ENSP00000349608:Q45E;ENSP00000368557:Q45E;ENSP00000296869:Q105E;ENSP00000368548:Q91E;ENSP00000368546:Q80E;ENSP00000368542:Q80E;ENSP00000413329:Q45E;ENSP00000442124:Q80E;ENSP00000397507:Q45E;ENSP00000398423:Q80E;ENSP00000388424:Q80E;ENSP00000398381:Q80E;ENSP00000394810:Q80E	ENSP00000296869:Q105E	Q	-	1	0	ACSL6	131354517	0.996000	0.38824	0.491000	0.27477	0.608000	0.37181	1.321000	0.33678	0.732000	0.32470	0.486000	0.48141	CAG	ACSL6	-	NULL		0.612	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	G	NM_015256		131326618	-1	no_errors	ENST00000296869	ensembl	human	known	70_37	missense	SNP	0.998	C	C	131326618	G	C	131326618	3	2	117	1	0	0	0	0	1	0	0	0	181	1299	45	1	2013	1	ACSL6	5	131326618	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	52271905	131326618	49588642	400	17868										
BRD8	10902	genome.wustl.edu	37	chr5	137501639	137501639	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttccttcccatctatgctggGagcctttgatccaacaggag	9	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:137501639G>C	ENST00000254900.5	-	11	1527	c.1156C>G	c.(1156-1158)Ccc>Gcc	p.P386A	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000455658.2_Missense_Mutation_p.P345A|BRD8_ENST00000411594.2_Missense_Mutation_p.P389A|BRD8_ENST00000230901.5_Missense_Mutation_p.P459A|BRD8_ENST00000402931.1_Missense_Mutation_p.P386A	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	386					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTATGCTGGGAGCCTTTGAT	0.438																																																	0													148	142	144					5																	137501639		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1156C>G	5.37:g.137501639G>C	ENSP00000254900:p.Pro386Ala		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P386A	ENST00000254900.5	37	c.1156	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564687	0.45694	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T	0.29397	1.97;1.57;1.59;1.71;1.72;1.58;1.71	5.65	5.65	0.86999	.	0.279888	0.36268	N	0.002681	T	0.23572	0.0570	N	0.04508	-0.205	0.38222	D	0.940775	P;B;B;B;B;P;P;D	0.53745	0.787;0.036;0.017;0.435;0.428;0.571;0.571;0.962	B;B;B;B;B;B;B;P	0.50162	0.295;0.03;0.012;0.081;0.154;0.163;0.167;0.633	T	0.17992	-1.0351	10	0.59425	D	0.04	-7.014	14.4815	0.67587	0.0:0.1464:0.8536:0.0	.	345;370;165;459;389;280;459;386	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	A	386;415;384;459;386;389;280;345;5	ENSP00000254900:P386A;ENSP00000398067:P415A;ENSP00000398873:P384A;ENSP00000230901:P459A;ENSP00000384845:P386A;ENSP00000394330:P389A;ENSP00000408396:P345A	ENSP00000230901:P459A	P	-	1	0	BRD8	137529538	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.595000	0.54016	2.941000	0.99782	0.655000	0.94253	CCC	BRD8	-	NULL		0.438	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	G	NM_006696		137501639	-1	no_errors	ENST00000254900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137501639	G	C	137501639	3	2	117	1	0	0	0	0	1	0	0	0	1509	1174	41	1	2683	1	BRD8	5	137501639	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6175021	137501639	43413621	401	17869										
HSPA9	3313	genome.wustl.edu	37	chr5	137903344	137903344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctaattgacctcacctgtctCtgcgagtcattgaaataagc	7	11	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:137903344C>T	ENST00000297185.3	-	6	728	c.603G>A	c.(601-603)caG>caA	p.Q201Q	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	201					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCACCTGTCTCTGCGAGTCAT	0.388																																																	0													79	74	76					5																	137903344		2203	4300	6503	SO:0001819	synonymous_variant	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.603G>A	5.37:g.137903344C>T			B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.Q201	ENST00000297185.3	37	c.603	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK		0.388	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	C	NM_004134		137903344	-1	no_errors	ENST00000297185	ensembl	human	known	70_37	silent	SNP	1.000	T	T	137903344	C	T	137903344	2	4	117	1	0	0	0	0	0	0	0	1	7437	912	32	1		1	HSPA9	5	137903344	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	401705	137903344	43011916	402	17870										
PCDHB10	56126	genome.wustl.edu	37	chr5	140573239	140573239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggctgtttttaagattaatGacagagactctggagaaaat	10	4	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:140573239G>A	ENST00000239446.4	+	1	1298	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGATTAATGACAGAGACTC	0.408																																																	0													60	63	62					5																	140573239		2203	4300	6503	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1114G>A	5.37:g.140573239G>A	ENSP00000239446:p.Asp372Asn		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D372N	ENST00000239446.4	37	c.1114	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771741	0.49680	.	.	ENSG00000120324	ENST00000239446	T	0.61627	0.09	3.23	3.23	0.37069	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86205	0.5877	H	0.99758	4.755	0.44937	D	0.997952	D	0.89917	1.0	D	0.97110	1.0	D	0.92406	0.5933	9	0.87932	D	0	.	14.6377	0.68702	0.0:0.0:1.0:0.0	.	372	Q9UN67	PCDBA_HUMAN	N	372	ENSP00000239446:D372N	ENSP00000239446:D372N	D	+	1	0	PCDHB10	140553423	1.000000	0.71417	0.777000	0.31699	0.154000	0.21943	7.681000	0.84073	1.824000	0.53156	0.556000	0.70494	GAC	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	G	NM_018930		140573239	1	no_errors	ENST00000239446	ensembl	human	known	70_37	missense	SNP	0.929	A	A	140573239	G	A	140573239	3	1	117	1	0	0	0	0	1	0	0	0	11559	1290	45	1	1116	1	PCDHB10	5	140573239	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2669895	140573239	40342021	403	17871										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140724207	140724207	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggagcgggccctggaccgtGagaaaaaagaaattcaccag	13	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:140724207G>C	ENST00000253812.6	+	1	607	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGTGAGAAAAAAGA	0.537																																																	0													49	53	51					5																	140724207		2146	4269	6415	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.607G>C	5.37:g.140724207G>C	ENSP00000253812:p.Glu203Gln		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E203Q	ENST00000253812.6	37	c.607	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	17.67	3.447815	0.63178	.	.	ENSG00000254245	ENST00000253812	T	0.34859	1.34	5.65	5.65	0.86999	Cadherin (3);Cadherin-like (1);	0.000000	0.33515	U	0.004833	T	0.79112	0.4391	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87994	0.2751	10	0.87932	D	0	.	19.7068	0.96076	0.0:0.0:1.0:0.0	.	203;203	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	203	ENSP00000253812:E203Q	ENSP00000253812:E203Q	E	+	1	0	PCDHGA3	140704391	1.000000	0.71417	0.984000	0.44739	0.352000	0.29268	9.695000	0.98691	2.824000	0.97209	0.655000	0.94253	GAG	PCDHGA3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140724207	1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140724207	G	C	140724207	3	2	117	1	0	0	0	0	1	0	0	0	11579	1291	45	1	609	1	PCDHGA3	5	140724207	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	150968	140724207	40191053	404	17872										
PPP2R2B	5521	genome.wustl.edu	37	chr5	145979889	145979889	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggcggttttccatgttgaGatcccagactttgacggtca	13	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:145979889G>C	ENST00000394413.3	-	7	1495	c.925C>G	c.(925-927)Ctc>Gtc	p.L309V	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.L367V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.L298V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.L309V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.L312V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.L315V|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.L309V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.L309V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.L298V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.L375V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	309					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATGTTGAGATCCCAGACT	0.458																																																	0													168	163	165					5																	145979889		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.925C>G	5.37:g.145979889G>C	ENSP00000377935:p.Leu309Val		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L375V	ENST00000394413.3	37	c.1123	CCDS4284.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.251887|2.251887	0.39797|0.39797	.|.	.|.	ENSG00000156475|ENSG00000156475	ENST00000512984|ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	.|T;T;T;T;T;T;T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.8|5.8	5.8|5.8	0.92144|0.92144	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.062852	.|0.64402	.|D	.|0.000006	T|T	0.29556|0.29556	0.0737|0.0737	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.15141	.|0.012;0.007;0.003;0.012;0.003;0.001	.|B;B;B;B;B;B	.|0.15484	.|0.009;0.013;0.008;0.013;0.005;0.005	T|T	0.07214|0.07214	-1.0784|-1.0784	5|10	.|0.13470	.|T	.|0.59	-14.6183|-14.6183	13.6955|13.6955	0.62578|0.62578	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.	.|367;315;298;375;312;309	.|Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.|.;.;.;.;.;2ABB_HUMAN	M|V	17|309;298;375;309;309;309;298;312;315;367	.|ENSP00000377935:L309V;ENSP00000431320:L298V;ENSP00000377936:L375V;ENSP00000377933:L309V;ENSP00000349283:L309V;ENSP00000398779:L309V;ENSP00000377932:L298V;ENSP00000336591:L312V;ENSP00000421396:L315V;ENSP00000377931:L367V	.|ENSP00000336591:L312V	I|L	-|-	3|1	3|0	AC011357.1|AC011357.1	145960082|145960082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.064000|4.064000	0.57506|0.57506	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	ATC|CTC	PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.458	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	G	NM_181678		145979889	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	missense	SNP	1.000	C	C	145979889	G	C	145979889	3	2	117	1	0	0	0	0	1	0	0	0	12412	942	33	1	418	1	PPP2R2B	5	145979889	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5255682	145979889	34935371	405	17873										
FBXO38	81545	genome.wustl.edu	37	chr5	147781924	147781924	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttctagggtgtggaaacttCtcatttggagttggtagaat	12	4	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:147781924C>T	ENST00000340253.5	+	5	608	c.440C>T	c.(439-441)tCt>tTt	p.S147F	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.S147F|FBXO38_ENST00000513826.1_Missense_Mutation_p.S147F|FBXO38_ENST00000394370.3_Missense_Mutation_p.S147F			Q6PIJ6	FBX38_HUMAN	F-box protein 38	147					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAACTTCTCATTTGGAG	0.368																																																	0													164	162	163					5																	147781924		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.440C>T	5.37:g.147781924C>T	ENSP00000342023:p.Ser147Phe		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.S147F	ENST00000340253.5	37	c.440		5	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807269	0.90623	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38722	1.12;5.21;1.12;5.21	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.996;0.994	T	0.57277	-0.7839	10	0.87932	D	0	-16.7373	18.8946	0.92419	0.0:1.0:0.0:0.0	.	147;147;147	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	F	147	ENSP00000342023:S147F;ENSP00000296701:S147F;ENSP00000377895:S147F;ENSP00000426410:S147F	ENSP00000296701:S147F	S	+	2	0	FBXO38	147762117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.777000	0.68931	2.871000	0.98454	0.655000	0.94253	TCT	FBXO38	-	NULL		0.368	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	C	NM_030793		147781924	1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	147781924	C	T	147781924	3	4	117	1	0	0	0	0	1	0	0	0	5764	913	32	1	454	1	FBXO38	5	147781924	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1802035	147781924	33133336	406	17874										
FBXO38	81545	genome.wustl.edu	37	chr5	147782040	147782040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgaaaataaactgaaaattCctataggagccaaaattcaa	5	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:147782040C>T	ENST00000340253.5	+	5	724	c.556C>T	c.(556-558)Cct>Tct	p.P186S	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.P186S|FBXO38_ENST00000513826.1_Missense_Mutation_p.P186S|FBXO38_ENST00000394370.3_Missense_Mutation_p.P186S			Q6PIJ6	FBX38_HUMAN	F-box protein 38	186					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGAAAATTCCTATAGGAGC	0.343																																																	0													84	87	86					5																	147782040		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.556C>T	5.37:g.147782040C>T	ENSP00000342023:p.Pro186Ser		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.P186S	ENST00000340253.5	37	c.556		5	.	.	.	.	.	.	.	.	.	.	C	32	5.122320	0.94429	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.37915	1.18;5.62;1.17;5.62	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.973;0.983;0.998	T	0.46345	-0.9198	10	0.52906	T	0.07	-12.0229	18.8946	0.92419	0.0:1.0:0.0:0.0	.	186;186;186	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	S	186	ENSP00000342023:P186S;ENSP00000296701:P186S;ENSP00000377895:P186S;ENSP00000426410:P186S	ENSP00000296701:P186S	P	+	1	0	FBXO38	147762233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.871000	0.98454	0.655000	0.94253	CCT	FBXO38	-	NULL		0.343	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	C	NM_030793		147782040	1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	147782040	C	T	147782040	3	4	117	1	0	0	0	0	1	0	0	0	5764	855	30	1	570	1	FBXO38	5	147782040	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	116	147782040	33133220	407	17875										
GRIA1	2890	genome.wustl.edu	37	chr5	153181983	153181983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcctgatcggaggacttgGactagccatgctggttgcct	12	11	0	1	rs267600500		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:153181983G>T	ENST00000285900.5	+	15	2796	c.2453G>T	c.(2452-2454)gGa>gTa	p.G818V	GRIA1_ENST00000518142.1_Missense_Mutation_p.G738V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G828V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G818V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G749V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G828V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	818					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G818E(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGAGGACTTGGACTAGCCATG	0.537																																																	1	Substitution - Missense(1)	skin(1)											214	195	201					5																	153181983		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2453G>T	5.37:g.153181983G>T	ENSP00000285900:p.Gly818Val		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G828V	ENST00000285900.5	37	c.2483	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588279	0.46110	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.11063	2.87;2.81;2.89;2.83;2.82;2.86;2.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.60455	1.87	0.80722	D	1	P;P;B;P;P	0.50710	0.938;0.938;0.01;0.928;0.658	P;P;B;P;B	0.52343	0.621;0.621;0.007;0.696;0.209	T	0.01182	-1.1426	10	0.22109	T	0.4	.	18.1053	0.89518	0.0:0.0:1.0:0.0	.	828;828;738;818;818	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	V	818;818;738;818;751;749;828;828	ENSP00000285900:G818V;ENSP00000427920:G738V;ENSP00000339343:G818V;ENSP00000427864:G751V;ENSP00000442108:G749V;ENSP00000428994:G828V;ENSP00000415569:G828V	ENSP00000285900:G818V	G	+	2	0	GRIA1	153162176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.581000	0.98210	2.516000	0.84829	0.655000	0.94253	GGA	GRIA1	-	prints_NMDA_rcpt		0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	G			153181983	1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153181983	G	T	153181983	3	4	117	1	0	0	0	0	1	0	0	0	6787	1174	41	3	2630	3	GRIA1	5	153181983	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5399943	153181983	27733277	408	17876										
C1QTNF2	114898	genome.wustl.edu	37	chr5	159776312	159776312	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacttcgtcaccctgcttgaGagccaggatggtggagcctg	13	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:159776312G>C	ENST00000393975.3	-	3	859	c.856C>G	c.(856-858)Ctc>Gtc	p.L286V		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	241					activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	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)			CCCTGCTTGAGAGCCAGGATG	0.582																																																	0													102	102	102					5																	159776312		2203	4300	6503	SO:0001583	missense	114898			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.856C>G	5.37:g.159776312G>C	ENSP00000377545:p.Leu286Val			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L286V	ENST00000393975.3	37	c.856	CCDS4351.2	5	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526190	0.64860	.	.	ENSG00000145861	ENST00000393975	D	0.92446	-3.04	5.14	4.27	0.50696	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.89658	3.05	0.51012	D	0.999901	D	0.89917	1.0	D	0.91635	0.999	D	0.96347	0.9255	10	0.87932	D	0	.	11.0157	0.47687	0.1534:0.0:0.8465:0.0	.	241	Q9BXJ5	C1QT2_HUMAN	V	286	ENSP00000377545:L286V	ENSP00000377545:L286V	L	-	1	0	C1QTNF2	159708890	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	6.737000	0.74816	1.304000	0.44892	-0.150000	0.13652	CTC	C1QTNF2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.582	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	G			159776312	-1	no_errors	ENST00000393975	ensembl	human	known	70_37	missense	SNP	0.999	C	C	159776312	G	C	159776312	3	2	117	1	0	0	0	0	1	0	0	0	1968	942	33	1	140	1	C1QTNF2	5	159776312	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6594329	159776312	21138948	409	17877										
SLIT3	6586	genome.wustl.edu	37	chr5	168114084	168114084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagtcatcattgtctgtctCacagagcttcccgctgtagc	8	13	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:168114084C>T	ENST00000519560.1	-	30	3633	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1072K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1079K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1072	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGTCTCACAGAGCTTC	0.597																																					Ovarian(29;311 847 10864 17279 24903)												0													67	61	63					5																	168114084		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3214G>A	5.37:g.168114084C>T	ENSP00000430333:p.Glu1072Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1072K	ENST00000519560.1	37	c.3214	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787143	0.70337	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91631	-2.88;-2.88;-2.88	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.84585	2.705	0.80722	D	1	B	0.29301	0.241	B	0.32465	0.146	D	0.93257	0.6640	10	0.62326	D	0.03	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	1072	O75094	SLIT3_HUMAN	K	1072;1079;1072	ENSP00000430333:E1072K;ENSP00000332164:E1079K;ENSP00000384890:E1072K	ENSP00000332164:E1079K	E	-	1	0	SLIT3	168046662	1.000000	0.71417	0.809000	0.32408	0.829000	0.46940	4.874000	0.63064	2.181000	0.69327	0.462000	0.41574	GAG	SLIT3	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168114084	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168114084	C	T	168114084	3	4	117	1	0	0	0	0	1	0	0	0	14771	835	29	1	1385	1	SLIT3	5	168114084	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8337772	168114084	12801176	410	17878										
THOC3	84321	genome.wustl.edu	37	chr5	175395007	175395007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaggaccccgaggctaggcGacgcccgtcgcaactccagg	14	15	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:175395007G>A	ENST00000265097.4	-	1	295	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	THOC3_ENST00000510300.1_5'Flank|THOC3_ENST00000513482.1_Missense_Mutation_p.R69C|THOC3_ENST00000514861.1_Intron	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	69					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)		GAGGCTAGGCGACGCCCGTCG	0.677																																																	0													10	12	11					5																	175395007		1940	3878	5818	SO:0001583	missense	84321			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.205C>T	5.37:g.175395007G>A	ENSP00000265097:p.Arg69Cys		Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R69C	ENST00000265097.4	37	c.205	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571384	0.86542	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.60672	0.17;0.17	4.07	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.064549	0.64402	D	0.000008	T	0.67942	0.2947	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.65140	0.932;0.863	T	0.68100	-0.5498	10	0.39692	T	0.17	-12.0637	15.4334	0.75121	0.0:0.0:1.0:0.0	.	69;69	Q6NZ53;Q96J01	.;THOC3_HUMAN	C	69	ENSP00000265097:R69C;ENSP00000422243:R69C	ENSP00000265097:R69C	R	-	1	0	THOC3	175327613	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.315000	0.51951	2.085000	0.62840	0.511000	0.50034	CGC	THOC3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.677	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	G			175395007	-1	no_errors	ENST00000265097	ensembl	human	known	70_37	missense	SNP	1.000	A	A	175395007	G	A	175395007	3	1	117	1	0	0	0	0	1	0	0	0	15896	1058	37	1	874	1	THOC3	5	175395007	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7280923	175395007	5520253	411	17879										
CLK4	57396	genome.wustl.edu	37	chr5	178030740	178030740	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtttctcatgttcttcatCatgacaaagcataaattcct	4	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:178030740C>T	ENST00000316308.4	-	13	1492	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGTTCTTCATCATGACAAAGC	0.318																																																	0													84	82	82					5																	178030740		2202	4300	6502	SO:0001583	missense	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1324G>A	5.37:g.178030740C>T	ENSP00000316948:p.Asp442Asn			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.D442N	ENST00000316308.4	37	c.1324	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264049	0.39995	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.20598	2.06	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.200086	0.48767	D	0.000168	T	0.14614	0.0353	N	0.26130	0.795	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.15484	0.013;0.013	T	0.07520	-1.0768	10	0.30854	T	0.27	.	10.0225	0.42053	0.0:0.908:0.0:0.092	.	442;442	B9EG64;Q9HAZ1	.;CLK4_HUMAN	N	442;334	ENSP00000316948:D442N	ENSP00000316948:D442N	D	-	1	0	CLK4	177963346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.841000	0.55850	2.473000	0.83533	0.591000	0.81541	GAT	CLK4	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.318	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	C			178030740	-1	no_errors	ENST00000316308	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178030740	C	T	178030740	3	4	117	1	0	0	0	0	1	0	0	0	3544	826	29	1	125	1	CLK4	5	178030740	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2635733	178030740	2884520	412	17880										
ZNF354C	30832	genome.wustl.edu	37	chr5	178506306	178506306	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaacccttatcaaacatctGagagtgcatactggagagaa	8	9	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:178506306G>A	ENST00000315475.6	+	5	1179	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L291L(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAAACATCTGAGAGTGCATA	0.418																																																	1	Substitution - coding silent(1)	urinary_tract(1)											125	123	123					5																	178506306		2203	4300	6503	SO:0001819	synonymous_variant	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.873G>A	5.37:g.178506306G>A			Q6P4P9|Q8NFX1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L291	ENST00000315475.6	37	c.873	CCDS4443.1	5																																																																																			ZNF354C	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506306	1	no_errors	ENST00000315475	ensembl	human	known	70_37	silent	SNP	0.022	A	A	178506306	G	A	178506306	2	1	117	1	0	0	0	0	0	0	0	1	17896	1277	45	1		1	ZNF354C	5	178506306	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	475566	178506306	2408954	413	17881										
WRNIP1	56897	genome.wustl.edu	37	chr6	2785498	2785498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgaggggggtagatttcttCaagcagaggaggtgctgact	16	5	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:2785498C>T	ENST00000380773.4	+	7	2189	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	WRNIP1_ENST00000380764.1_Silent_p.F276F|WRNIP1_ENST00000380771.4_Silent_p.F635F|WRNIP1_ENST00000380769.4_Silent_p.F440F	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TAGATTTCTTCAAGCAGAGGA	0.502																																																	0													79	74	76					6																	2785498		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1980C>T	6.37:g.2785498C>T				Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.F660	ENST00000380773.4	37	c.1980	CCDS4475.1	6																																																																																			WRNIP1	-	pfam_MgsA_C		0.502	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2785498	1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	0.780	T	T	2785498	C	T	2785498	2	4	117	1	0	0	0	0	0	0	0	1	17434	825	29	1		1	WRNIP1	6	2785498	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		2785498	168329569	414	17882										
TUBB2A	7280	genome.wustl.edu	37	chr6	3154970	3154970	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggtctgggtactcttcccgGatcttgctgatgagcagggt	14	10	3	2	rs201238213		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:3154970G>A	ENST00000333628.3	-	4	527	c.465C>T	c.(463-465)atC>atT	p.I155I	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	155					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACTCTTCCCGGATCTTGCTGA	0.622																																																	0													28	20	23					6																	3154970		2202	4273	6475	SO:0001819	synonymous_variant	7280			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.465C>T	6.37:g.3154970G>A			Q6FGZ8|Q8IWR2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.I155	ENST00000333628.3	37	c.465	CCDS4484.1	6																																																																																			TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin		0.622	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	G	NM_001069		3154970	-1	no_errors	ENST00000333628	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3154970	G	A	3154970	2	1	117	1	0	0	0	0	0	0	0	1	16785	1164	41	1		1	TUBB2A	6	3154970	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	369472	3154970	167960097	415	17883										
DSP	1832	genome.wustl.edu	37	chr6	7581463	7581463	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtgtcaaacaagctcacttGaggaatgagcatttccagaa	9	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:7581463G>A	ENST00000379802.3	+	23	5381	c.5040G>A	c.(5038-5040)ttG>ttA	p.L1680L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1680	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCTCACTTGAGGAATGAGC	0.483																																																	0													93	101	98					6																	7581463		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5040G>A	6.37:g.7581463G>A			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L1680	ENST00000379802.3	37	c.5040	CCDS4501.1	6																																																																																			DSP	-	NULL		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	G	NM_004415		7581463	1	no_errors	ENST00000379802	ensembl	human	known	70_37	silent	SNP	0.984	A	A	7581463	G	A	7581463	2	1	117	1	0	0	0	0	0	0	0	1	4791	1281	45	1		1	DSP	6	7581463	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4426493	7581463	163533604	416	17884										
MAK	4117	genome.wustl.edu	37	chr6	10796315	10796315	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttggaggttgctggacgctCaggttctgtggcggctgaat	16	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:10796315C>G	ENST00000313243.2	-	9	1441	c.1059G>C	c.(1057-1059)ctG>ctC	p.L353L	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000538030.1_Silent_p.L353L|MAK_ENST00000354489.2_Silent_p.L353L|MAK_ENST00000474039.1_Silent_p.L353L|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	353	Glu/Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTGGACGCTCAGGTTCTGTG	0.532																																																	0													169	186	181					6																	10796315		2203	4300	6503	SO:0001819	synonymous_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1059G>C	6.37:g.10796315C>G			F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L353	ENST00000313243.2	37	c.1059	CCDS4516.1	6																																																																																			MAK	-	NULL		0.532	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	HGNC	protein_coding	OTTHUMT00000039841.1	C	NM_005906		10796315	-1	no_errors	ENST00000313243	ensembl	human	known	70_37	silent	SNP	0.000	G	G	10796315	C	G	10796315	2	3	117	1	0	0	0	0	0	0	0	1	9220	813	29	1		1	MAK	6	10796315	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3214852	10796315	160318752	417	17885										
GCM2	9247	genome.wustl.edu	37	chr6	10876194	10876194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtctcttgatggcgcttcttCtagcttctgtctctgatttg	9	10	5	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:10876194C>T	ENST00000379491.4	-	4	659	c.512G>A	c.(511-513)aGa>aAa	p.R171K	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	171					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGCGCTTCTTCTAGCTTCTGT	0.458																																																	0													219	178	192					6																	10876194		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.512G>A	6.37:g.10876194C>T	ENSP00000368805:p.Arg171Lys		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R171K	ENST00000379491.4	37	c.512	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.736662	0.96865	.	.	ENSG00000124827	ENST00000379491	T	0.73681	-0.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.85539	0.1214	10	0.72032	D	0.01	-18.7018	19.773	0.96379	0.0:1.0:0.0:0.0	.	171	O75603	GCM2_HUMAN	K	171	ENSP00000368805:R171K	ENSP00000368805:R171K	R	-	2	0	GCM2	10984180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.592000	0.82676	2.677000	0.91161	0.655000	0.94253	AGA	GCM2	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.458	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	C			10876194	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10876194	C	T	10876194	3	4	117	1	0	0	0	0	1	0	0	0	6317	913	32	1	1016	1	GCM2	6	10876194	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	79879	10876194	160238873	418	17886										
HIVEP1	3096	genome.wustl.edu	37	chr6	12089440	12089440	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaattgaagaagcacaaaaaGaacttaatggggcagaagtt	10	4	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:12089440G>C	ENST00000379388.2	+	3	396	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	22					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCACAAAAAGAACTTAATGG	0.264																																																	0													58	53	55					6																	12089440		1785	4046	5831	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.64G>C	6.37:g.12089440G>C	ENSP00000368698:p.Glu22Gln		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E22Q	ENST00000379388.2	37	c.64	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718135	0.48622	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000442081;ENST00000478545	T	0.12255	2.7	5.95	5.95	0.96441	.	0.000000	0.32970	U	0.005437	T	0.22126	0.0533	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00210	-1.1916	10	0.51188	T	0.08	-10.608	15.8968	0.79341	0.0:0.0:1.0:0.0	.	22	P15822	ZEP1_HUMAN	Q	22;22;22;31;22	ENSP00000368698:E22Q	ENSP00000368698:E22Q	E	+	1	0	HIVEP1	12197426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.492000	0.53259	2.829000	0.97493	0.655000	0.94253	GAA	HIVEP1	-	NULL		0.264	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12089440	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12089440	G	C	12089440	3	2	117	1	0	0	0	0	1	0	0	0	7206	943	33	1	70	1	HIVEP1	6	12089440	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1213246	12089440	159025627	419	17887										
ALDH5A1	7915	genome.wustl.edu	37	chr6	24515501	24515501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgtactgatcctctggtgtCcaaaatttcctttactggtt	7	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:24515501C>T	ENST00000357578.3	+	5	978	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S291F|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S190F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S250F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	278					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CCTCTGGTGTCCAAAATTTCC	0.383																																																	0													114	99	104					6																	24515501		2203	4300	6503	SO:0001583	missense	7915			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.833C>T	6.37:g.24515501C>T	ENSP00000350191:p.Ser278Phe		B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.S291F	ENST00000357578.3	37	c.872	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837082	0.71373	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.365986	0.31020	N	0.008403	D	0.93973	0.8070	M	0.81802	2.56	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	P;P	0.62649	0.905;0.847	D	0.94294	0.7531	10	0.87932	D	0	-18.8709	14.7794	0.69754	0.0:0.8561:0.1439:0.0	.	278;291	P51649;G5E949	SSDH_HUMAN;.	F	278;190;250;291	ENSP00000350191:S278F;ENSP00000438193:S190F;ENSP00000417687:S250F;ENSP00000314649:S291F	ENSP00000314649:S291F	S	+	2	0	ALDH5A1	24623480	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	3.786000	0.55431	2.778000	0.95560	0.591000	0.81541	TCC	ALDH5A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH		0.383	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	HGNC	protein_coding	OTTHUMT00000040007.2	C			24515501	1	no_errors	ENST00000348925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24515501	C	T	24515501	3	4	117	1	0	0	0	0	1	0	0	0	502	855	30	1	894	1	ALDH5A1	6	24515501	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	12426061	24515501	146599566	420	17888										
SLC17A2	10246	genome.wustl.edu	37	chr6	25916060	25916060	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcctaaaattgtacagcttgCagcagcaataaaaggcaggg	10	8	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:25916060C>G	ENST00000265425.3	-	8	987	c.967G>C	c.(967-969)Gca>Cca	p.A323P	SLC17A2_ENST00000377850.3_Missense_Mutation_p.A323P|SLC17A2_ENST00000360488.3_Missense_Mutation_p.A323P			O00624	NPT3_HUMAN	solute carrier family 17, member 2	323					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTACAGCTTGCAGCAGCAATA	0.413																																																	0													55	53	53					6																	25916060		2203	4300	6503	SO:0001583	missense	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.967G>C	6.37:g.25916060C>G	ENSP00000265425:p.Ala323Pro		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A323P	ENST00000265425.3	37	c.967		6	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418433	0.42918	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.61040	0.14;0.14;0.14	5.03	1.17	0.20885	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.856190	0.09968	N	0.732588	T	0.41719	0.1171	L	0.53671	1.685	0.09310	N	1	B;P;B	0.37176	0.085;0.586;0.451	B;B;B	0.43916	0.251;0.436;0.213	T	0.42632	-0.9440	10	0.56958	D	0.05	.	10.7972	0.46468	0.483:0.517:0.0:0.0	.	323;323;323	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	P	323	ENSP00000353677:A323P;ENSP00000367081:A323P;ENSP00000265425:A323P	ENSP00000265425:A323P	A	-	1	0	SLC17A2	26024039	0.917000	0.31117	0.429000	0.26710	0.953000	0.61014	1.436000	0.34980	0.118000	0.18165	-0.271000	0.10264	GCA	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.413	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	C			25916060	-1	no_errors	ENST00000377850	ensembl	human	known	70_37	missense	SNP	0.160	G	G	25916060	C	G	25916060	3	3	117	1	0	0	0	0	1	0	0	0	14447	710	25	4	355	4	SLC17A2	6	25916060	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1400559	25916060	145199007	421	17889										
HIST1H2AB	8335	genome.wustl.edu	37	chr6	26033628	26033628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatctcggcggtcaggtactCaagcaccgccgcgagataca	12	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:26033628C>G	ENST00000259791.2	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GTCAGGTACTCAAGCACCGCC	0.657																																																	0													35	39	38					6																	26033628		2203	4300	6503	SO:0001583	missense	8335			X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.169G>C	6.37:g.26033628C>G	ENSP00000259791:p.Glu57Gln		P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E57Q	ENST00000259791.2	37	c.169	CCDS4574.1	6	.	.	.	.	.	.	.	.	.	.	c	25.7	4.667219	0.88251	.	.	ENSG00000137259	ENST00000259791	T	0.61859	0.07	5.49	5.49	0.81192	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.35585	U	0.003111	T	0.74997	0.3790	.	.	.	0.43647	D	0.996054	D	0.89917	1.0	D	0.97110	1.0	T	0.77718	-0.2483	9	0.87932	D	0	.	18.7226	0.91702	0.0:1.0:0.0:0.0	.	57	P04908	H2A1B_HUMAN	Q	57	ENSP00000259791:E57Q	ENSP00000259791:E57Q	E	-	1	0	HIST1H2AB	26141607	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.692000	0.84203	2.716000	0.92895	0.655000	0.94253	GAG	HIST1H2AB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.657	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AB	HGNC	protein_coding	OTTHUMT00000040082.1	C	NM_003513		26033628	-1	no_errors	ENST00000259791	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26033628	C	G	26033628	3	3	117	1	0	0	0	0	1	0	0	0	7149	835	29	1	227	1	HIST1H2AB	6	26033628	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	117568	26033628	145081439	422	17890										
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156742	26156742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgtctgggcccccggtgtccGagctcattactaaagctgtt	11	13	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:26156742G>C	ENST00000304218.3	+	1	184	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	42	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCCGGTGTCCGAGCTCATTAC	0.642																																																	0													21	28	25					6																	26156742		2203	4297	6500	SO:0001583	missense	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.124G>C	6.37:g.26156742G>C	ENSP00000307705:p.Glu42Gln		Q4VB25	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.E42Q	ENST00000304218.3	37	c.124	CCDS4586.1	6	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437615	0.62955	.	.	ENSG00000168298	ENST00000304218	T	0.08984	3.03	5.49	5.49	0.81192	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.296715	0.36200	N	0.002731	T	0.12646	0.0307	L	0.54965	1.715	0.80722	D	1	P	0.38745	0.645	P	0.52957	0.714	T	0.06534	-1.0821	10	0.25106	T	0.35	-24.2274	18.7044	0.91632	0.0:0.0:1.0:0.0	.	42	P10412	H14_HUMAN	Q	42	ENSP00000307705:E42Q	ENSP00000307705:E42Q	E	+	1	0	HIST1H1E	26264721	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	5.668000	0.68074	2.727000	0.93392	0.655000	0.94253	GAG	HIST1H1E	-	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26156742	1	no_errors	ENST00000304218	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26156742	G	C	26156742	3	2	117	1	0	0	0	0	1	0	0	0	7146	1059	37	1	126	1	HIST1H1E	6	26156742	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	123114	26156742	144958325	423	17891										
BTN2A1	11120	genome.wustl.edu	37	chr6	26465472	26465472	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcctatcattgtggttattCtgatgatacccattgccgta	8	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:26465472C>T	ENST00000312541.5	+	5	1020	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	BTN2A1_ENST00000469185.1_Silent_p.L258L|BTN2A1_ENST00000429381.1_Silent_p.L258L|BTN2A1_ENST00000541522.1_Silent_p.L197L	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	258					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428																																																	0													158	156	156					6																	26465472		2203	4300	6503	SO:0001819	synonymous_variant	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.772C>T	6.37:g.26465472C>T			B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.L258	ENST00000312541.5	37	c.772	CCDS4613.1	6																																																																																			BTN2A1	-	NULL		0.428	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	C	NM_007049		26465472	1	no_errors	ENST00000312541	ensembl	human	known	70_37	silent	SNP	0.036	T	T	26465472	C	T	26465472	2	4	117	1	0	0	0	0	0	0	0	1	1563	912	32	1		1	BTN2A1	6	26465472	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	308730	26465472	144649595	424	17892										
PGBD1	84547	genome.wustl.edu	37	chr6	28254871	28254871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgcagggcctgttccccacGgatcagctcatctccaggaa	10	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:28254871G>A	ENST00000405948.2	+	4	988	c.568G>A	c.(568-570)Gga>Aga	p.G190R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G190R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	190						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTTCCCCACGGATCAGCTCA	0.522																																																	0													118	100	106					6																	28254871		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.568G>A	6.37:g.28254871G>A	ENSP00000385213:p.Gly190Arg		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.G190R	ENST00000405948.2	37	c.568	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727251	0.03158	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01347	4.99;4.99	4.35	1.45	0.22620	.	.	.	.	.	T	0.00328	0.0010	N	0.12182	0.205	0.09310	N	1	B	0.28258	0.205	B	0.13407	0.009	T	0.45071	-0.9286	9	0.48119	T	0.1	-16.9802	3.7889	0.08712	0.2256:0.2067:0.5677:0.0	.	190	Q96JS3	PGBD1_HUMAN	R	190	ENSP00000385213:G190R;ENSP00000259883:G190R	ENSP00000259883:G190R	G	+	1	0	PGBD1	28362850	0.000000	0.05858	0.007000	0.13788	0.154000	0.21943	-0.270000	0.08584	0.501000	0.28013	0.563000	0.77884	GGA	PGBD1	-	NULL		0.522	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	G			28254871	1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	0.005	A	A	28254871	G	A	28254871	3	1	117	1	0	0	0	0	1	0	0	0	11804	1117	39	2	578	2	PGBD1	6	28254871	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1789399	28254871	142860196	425	17893										
SCAND3	114821	genome.wustl.edu	37	chr6	28543779	28543779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtattattacttttgttttCcagtaaccttgctaagcttc	5	8	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:28543779C>G	ENST00000452236.2	-	3	1320	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTTTGTTTTCCAGTAACCTT	0.348																																																	0													95	96	95					6																	28543779		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.703G>C	6.37:g.28543779C>G	ENSP00000395259:p.Glu235Gln			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.E235Q	ENST00000452236.2	37	c.703	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671361	0.47781	.	.	ENSG00000232040	ENST00000452236	T	0.01495	4.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.01835	0.0058	L	0.27053	0.805	0.23449	N	0.99766	D	0.57571	0.98	D	0.70227	0.968	T	0.53429	-0.8440	9	0.72032	D	0.01	.	8.7473	0.34594	0.0:1.0:0.0:0.0	.	235	Q6R2W3	SCND3_HUMAN	Q	235	ENSP00000395259:E235Q	ENSP00000395259:E235Q	E	-	1	0	SCAND3	28651758	0.860000	0.29831	0.867000	0.34043	0.936000	0.57629	1.142000	0.31540	1.735000	0.51646	0.585000	0.79938	GAA	SCAND3	-	NULL		0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	C			28543779	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	missense	SNP	0.874	G	G	28543779	C	G	28543779	3	3	117	1	0	0	0	0	1	0	0	0	13906	864	30	1	3282	1	SCAND3	6	28543779	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	288908	28543779	142571288	426	17894										
DPCR1	135656	genome.wustl.edu	37	chr6	30917500	30917500	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacatcatcctcagcagagtCtacagaacatggagaaagga	9	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:30917500C>G	ENST00000462446.1	+	2	1287	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	325						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TCAGCAGAGTCTACAGAACAT	0.502																																																	0													154	158	157					6																	30917500		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1259C>G	6.37:g.30917500C>G	ENSP00000417182:p.Ser420Cys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.S420C	ENST00000462446.1	37	c.1259	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	7.572	0.667009	0.14710	.	.	ENSG00000168631	ENST00000462446	T	0.47528	0.84	2.36	1.44	0.22558	.	.	.	.	.	T	0.27594	0.0678	N	0.22421	0.69	0.22947	N	0.998526	D	0.56968	0.978	P	0.54460	0.753	T	0.06127	-1.0844	9	0.72032	D	0.01	.	8.6384	0.33962	0.2293:0.7707:0.0:0.0	.	420	E9PEI6	.	C	420	ENSP00000417182:S420C	ENSP00000417182:S420C	S	+	2	0	DPCR1	31025479	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.541000	0.23207	0.580000	0.29522	-0.365000	0.07479	TCT	DPCR1	-	NULL		0.502	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917500	1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.005	G	G	30917500	C	G	30917500	3	3	117	1	0	0	0	0	1	0	0	0	4722	913	32	1	1265	1	DPCR1	6	30917500	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2373721	30917500	140197567	427	17895										
HLA-C	3107	genome.wustl.edu	37	chr6	31238874	31238874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgctgcagcgtctccttccCgttctccaggtatctgcgga	11	15	3	0	rs41552417	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31238874C>T	ENST00000376228.5	-	3	609	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	HLA-C_ENST00000383329.3_Missense_Mutation_p.G199R	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	199	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTCTCCTTCCCGTTCTCCAGG	0.662													c|||	13	0.00259585	0	0.0072	5008	,	,		14715	0.0069		0	False		,,,				2504	0.001																0								C	ARG/GLY	2,4404		0,2,2201	53	45	47		595	2.5	0.9	6	dbSNP_127	47	3,8595		0,3,4296	no	missense	HLA-C	NM_002117.5	125	0,5,6497	TT,TC,CC		0.0349,0.0454,0.0384	probably-damaging	199/367	31238874	5,12999	2203	4299	6502	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.595G>A	6.37:g.31238874C>T	ENSP00000365402:p.Gly199Arg		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.G236R	ENST00000376228.5	37	c.706	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.65|15.65	2.896290|2.896290	0.52121|0.52121	4.54E-4|4.54E-4	3.49E-4|3.49E-4	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.01068|.	5.38;5.38|.	2.55|2.55	2.55|2.55	0.30701|0.30701	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.000000|.	0.39083|.	U|.	0.001473|.	T|T	0.66839|0.66839	0.2830|0.2830	H|H	0.94964|0.94964	3.605|3.605	0.25787|0.25787	N|N	0.984669|0.984669	D;D;D;D|.	0.69078|.	0.997;0.972;0.972;0.972|.	P;P;P;P|.	0.60415|.	0.874;0.631;0.741;0.778|.	T|T	0.58847|0.58847	-0.7564|-0.7564	10|5	0.66056|.	D|.	0.02|.	.|.	11.1964|11.1964	0.48715|0.48715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs41552417|rs41552417	199;199;199;199|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	R|Q	199;199;199;236|198	ENSP00000365402:G199R;ENSP00000372819:G199R|.	ENSP00000365402:G199R|.	G|R	-|-	1|2	0|0	HLA-C|HLA-C	31346853|31346853	0.612000|0.612000	0.27000|0.27000	0.880000|0.880000	0.34516|0.34516	0.104000|0.104000	0.19210|0.19210	1.496000|1.496000	0.35638|0.35638	1.745000|1.745000	0.51790|0.51790	0.305000|0.305000	0.20034|0.20034	GGG|CGG	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.662	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31238874	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	missense	SNP	0.962	T	T	31238874	C	T	31238874	3	4	117	1	0	0	0	0	1	0	0	0	7217	652	23	2	529	2	HLA-C	6	31238874	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	321374	31238874	139876193	428	17896										
BAT2	7916	genome.wustl.edu	37	chr6	31597075	31597075	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgggctaccccaaatatcaGaagtcgttgcctcctcgttt	8	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31597075G>T	ENST00000376033.2	+	13	2154	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.Q640H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	640	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAAATATCAGAAGTCGTTGC	0.557																																																	0													101	111	107					6																	31597075		2203	4300	6503	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1920G>T	6.37:g.31597075G>T	ENSP00000365201:p.Gln640His		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.Q640H	ENST00000376033.2	37	c.1920	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041406	0.55003	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.12774	2.65;2.65	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000056	T	0.24586	0.0596	M	0.64170	1.965	0.49687	D	0.99981	D	0.71674	0.998	D	0.79784	0.993	T	0.00226	-1.1900	10	0.87932	D	0	-15.3194	11.789	0.52059	0.0804:0.0:0.9196:0.0	.	640	P48634	PRC2A_HUMAN	H	640;629;640;640	ENSP00000365175:Q640H;ENSP00000365201:Q640H	ENSP00000365175:Q640H	Q	+	3	2	PRRC2A	31705054	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.427000	0.44740	2.894000	0.99253	0.655000	0.94253	CAG	PRRC2A	-	NULL		0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31597075	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31597075	G	T	31597075	3	4	117	1	0	0	0	0	1	0	0	0	1320	933	33	3	1966	3	BAT2	6	31597075	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	358201	31597075	139517992	429	17897										
BAT2	7916	genome.wustl.edu	37	chr6	31598979	31598979	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agttatccaggctttcctgaGaatggagcccctgggccccc	11	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31598979G>C	ENST00000376033.2	+	16	2763	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E843D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	843	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTTTCCTGAGAATGGAGCCC	0.572																																																	0													81	92	88					6																	31598979		1510	2709	4219	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2529G>C	6.37:g.31598979G>C	ENSP00000365201:p.Glu843Asp		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E843D	ENST00000376033.2	37	c.2529	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298815	0.23650	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02015	4.5;4.5	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000026	T	0.02267	0.0070	L	0.29908	0.895	0.39498	D	0.968152	D	0.56521	0.976	P	0.54544	0.755	T	0.56733	-0.7930	10	0.87932	D	0	-20.0943	11.455	0.50176	0.0861:0.0:0.9139:0.0	.	843	P48634	PRC2A_HUMAN	D	843;832;843;843;68	ENSP00000365175:E843D;ENSP00000365201:E843D	ENSP00000365175:E843D	E	+	3	2	PRRC2A	31706958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.201000	0.51059	2.653000	0.90120	0.561000	0.74099	GAG	PRRC2A	-	NULL		0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31598979	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31598979	G	C	31598979	3	2	117	1	0	0	0	0	1	0	0	0	1320	933	33	1	2587	1	BAT2	6	31598979	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1904	31598979	139516088	430	17898										
NOTCH4	4855	genome.wustl.edu	37	chr6	32163434	32163434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagccactccgtatcttcctCgcattatcgcagggttgggc	10	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:32163434C>T	ENST00000375023.3	-	30	5930	c.5792G>A	c.(5791-5793)cGa>cAa	p.R1931Q	GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1931					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTATCTTCCTCGCATTATCGC	0.672																																																	0													72	74	73					6																	32163434		1509	2707	4216	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5792G>A	6.37:g.32163434C>T	ENSP00000364163:p.Arg1931Gln		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.R1931Q	ENST00000375023.3	37	c.5792	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024726	0.35701	.	.	ENSG00000204301	ENST00000375023	D	0.81659	-1.52	4.26	-1.38	0.09027	.	1.173460	0.06844	U	0.796167	T	0.37812	0.1017	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.17852	0.024;0.007	B;B	0.06405	0.002;0.002	T	0.07385	-1.0775	10	0.25106	T	0.35	.	0.6672	0.00853	0.3239:0.3204:0.1586:0.1971	.	1931;1930	Q99466;B0S882	NOTC4_HUMAN;.	Q	1931	ENSP00000364163:R1931Q	ENSP00000364163:R1931Q	R	-	2	0	NOTCH4	32271412	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	-0.400000	0.07241	-0.092000	0.12417	-0.157000	0.13467	CGA	NOTCH4	-	pirsf_Notch		0.672	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32163434	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.001	T	T	32163434	C	T	32163434	3	4	117	1	0	0	0	0	1	0	0	0	10575	884	31	1	223	1	NOTCH4	6	32163434	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	564455	32163434	138951633	431	17899										
HLA-DRB5	3127	genome.wustl.edu	37	chr6	32487169	32487169	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattccactgtgagagggctCgtcacgcttgggtgctccac	12	13	1	1	rs143127183	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:32487169C>T	ENST00000374975.3	-	3	692	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGAGAGGGCTCGTCACGCTTG	0.493													C|||	233	0.0465256	0.059	0.0389	5008	,	,		12789	0.0685		0.0368	False		,,,				2504	0.0225																0													73	83	80					6																	32487169		1886	3734	5620	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.630G>A	6.37:g.32487169C>T				Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.T210	ENST00000374975.3	37	c.630	CCDS4751.1	6																																																																																			HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	C	NM_002125		32487169	-1	no_errors	ENST00000374975	ensembl	human	known	70_37	silent	SNP	0.000	T	T	32487169	C	T	32487169	2	4	117	1	0	0	0	0	0	0	0	1	7229	871	31	1		1	HLA-DRB5	6	32487169	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	323735	32487169	138627898	432	17900										
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713837	32713837	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggcctggacgagcctcttCtgaaacactggggtaaggat	15	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:32713837C>T	ENST00000374940.3	+	3	703	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	201	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CGAGCCTCTTCTGAAACACTG	0.493																																																	0													186	210	201					6																	32713837		1510	2709	4219	SO:0001819	synonymous_variant	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.601C>T	6.37:g.32713837C>T			A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.L201	ENST00000374940.3	37	c.601	CCDS4753.1	6																																																																																			HLA-DQA2	-	NULL		0.493	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	C	NM_020056		32713837	1	no_errors	ENST00000374940	ensembl	human	known	70_37	silent	SNP	0.477	T	T	32713837	C	T	32713837	2	4	117	1	0	0	0	0	0	0	0	1	7225	912	32	1		1	HLA-DQA2	6	32713837	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	226668	32713837	138401230	433	17901										
COL11A2	1302	genome.wustl.edu	37	chr6	33154583	33154583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgggacaatggccagctCctggacatcaccctgcaaag	10	15	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:33154583C>T	ENST00000374708.4	-	5	877	c.619G>A	c.(619-621)Gag>Aag	p.E207K	COL11A2_ENST00000374713.1_Missense_Mutation_p.E207K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E207K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E207K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E207K|COL11A2_ENST00000395194.1_Missense_Mutation_p.E207K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E207K|COL11A2_ENST00000341947.2_Missense_Mutation_p.E207K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E207K	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	207	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATGGCCAGCTCCTGGACATCA	0.547																																					Melanoma(1;90 116 3946 5341 17093)												0													132	126	128					6																	33154583		2203	4300	6503	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.619G>A	6.37:g.33154583C>T	ENSP00000363840:p.Glu207Lys		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E207K	ENST00000374708.4	37	c.619	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777365	0.49786	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.21	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.077622	0.51477	D	0.000089	T	0.68842	0.3045	L	0.32530	0.975	0.38870	D	0.956689	B;B;B;P	0.51147	0.033;0.073;0.073;0.942	B;B;B;P	0.54815	0.03;0.04;0.04;0.761	T	0.72626	-0.4236	10	0.59425	D	0.04	.	10.1016	0.42509	0.0:0.6809:0.3191:0.0	.	207;207;207;207	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	K	207	ENSP00000363840:E207K;ENSP00000339915:E207K;ENSP00000350079:E207K;ENSP00000363846:E207K;ENSP00000363845:E207K;ENSP00000378623:E207K;ENSP00000363844:E207K;ENSP00000355123:E207K;ENSP00000405520:E207K;ENSP00000378620:E207K	ENSP00000339915:E207K	E	-	1	0	COL11A2	33262561	1.000000	0.71417	0.994000	0.49952	0.511000	0.34104	2.922000	0.48860	2.342000	0.79632	0.442000	0.29010	GAG	COL11A2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	C			33154583	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33154583	C	T	33154583	3	4	117	1	0	0	0	0	1	0	0	0	3673	864	30	1	4914	1	COL11A2	6	33154583	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	440746	33154583	137960484	434	17902										
SLC39A7	7922	genome.wustl.edu	37	chr6	33171585	33171585	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtgctgattgcccaccttGagtgaggggtggataaacta	14	7	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:33171585G>C	ENST00000374677.3	+	7	1778	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	SLC39A7_ENST00000374675.3_Missense_Mutation_p.E469Q|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	469				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCCCACCTTGAGTGAGGGGT	0.597																																																	0													52	54	54					6																	33171585		1970	4149	6119	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1405G>C	6.37:g.33171585G>C	ENSP00000363809:p.Glu469Gln		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.E469Q	ENST00000374677.3	37	c.1405	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041280	0.55003	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.78314	0.979;0.991	T	0.79612	-0.1731	10	0.87932	D	0	-4.943	15.3789	0.74637	0.0:0.0:1.0:0.0	.	450;469	B4DVK8;Q92504	.;S39A7_HUMAN	Q	469;450;374;469	ENSP00000363807:E469Q;ENSP00000363809:E469Q	ENSP00000363807:E469Q	E	+	1	0	SLC39A7	33279563	1.000000	0.71417	0.966000	0.40874	0.209000	0.24338	7.164000	0.77533	2.494000	0.84150	0.549000	0.68633	GAG	SLC39A7	-	NULL		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	G	NM_006979		33171585	1	no_errors	ENST00000374675	ensembl	human	known	70_37	missense	SNP	0.999	C	C	33171585	G	C	33171585	3	2	117	1	0	0	0	0	1	0	0	0	14653	1291	45	1	1431	1	SLC39A7	6	33171585	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	17002	33171585	137943482	435	17903										
KIF6	221458	genome.wustl.edu	37	chr6	39512397	39512397	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcttcttcttttaatggttCttgacaatcttggtctttgc	6	8	6	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:39512397C>G	ENST00000287152.7	-	12	1454	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	KIF6_ENST00000373213.4_Missense_Mutation_p.E293Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E454Q|KIF6_ENST00000373215.3_Missense_Mutation_p.E454Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E454Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	454					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTAATGGTTCTTGACAATCT	0.338																																																	0													169	156	161					6																	39512397		2203	4299	6502	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1360G>C	6.37:g.39512397C>G	ENSP00000287152:p.Glu454Gln		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E454Q	ENST00000287152.7	37	c.1360	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.637|8.637	0.894995|0.894995	0.17613|0.17613	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72167|.	-0.55;-0.56;-0.37;-0.55;-0.63|.	5.3|5.3	2.48|2.48	0.30137|0.30137	.|.	.|.	.|.	.|.	.|.	T|T	0.19446|0.19446	0.0467|0.0467	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33477|.	0.244;0.284;0.413;0.242|.	B;B;B;B|.	0.32465|.	0.146;0.097;0.128;0.064|.	T|T	0.15665|0.15665	-1.0429|-1.0429	9|5	0.19590|.	T|.	0.45|.	.|.	4.7844|4.7844	0.13219|0.13219	0.1878:0.656:0.0:0.1562|0.1878:0.656:0.0:0.1562	.|.	454;454;454;454|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	Q|N	454;454;293;454;454|345	ENSP00000287152:E454Q;ENSP00000362312:E454Q;ENSP00000362309:E293Q;ENSP00000362311:E454Q;ENSP00000441435:E454Q|.	ENSP00000287152:E454Q|.	E|K	-|-	1|3	0|2	KIF6|KIF6	39620375|39620375	0.032000|0.032000	0.19561|0.19561	0.735000|0.735000	0.30896|0.30896	0.699000|0.699000	0.40488|0.40488	0.950000|0.950000	0.29122|0.29122	1.215000|1.215000	0.43411|0.43411	0.609000|0.609000	0.83330|0.83330	GAA|AAG	KIF6	-	NULL		0.338	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	C	NM_145027		39512397	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	0.003	G	G	39512397	C	G	39512397	3	3	117	1	0	0	0	0	1	0	0	0	8328	922	32	1	1132	1	KIF6	6	39512397	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6340812	39512397	131602670	436	17904										
KIF6	221458	genome.wustl.edu	37	chr6	39581039	39581039	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctgtggttgcctgatggaGagtcaagtttttcaggtgaa	13	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:39581039G>C	ENST00000287152.7	-	6	659	c.565C>G	c.(565-567)Ctc>Gtc	p.L189V	KIF6_ENST00000373213.4_Missense_Mutation_p.L28V|KIF6_ENST00000538893.1_Missense_Mutation_p.L189V|KIF6_ENST00000373215.3_Missense_Mutation_p.L189V|KIF6_ENST00000373216.3_Missense_Mutation_p.L189V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCCTGATGGAGAGTCAAGTTT	0.418																																																	0													118	112	114					6																	39581039		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.565C>G	6.37:g.39581039G>C	ENSP00000287152:p.Leu189Val		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L189V	ENST00000287152.7	37	c.565	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467453	0.26335	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	Kinesin, motor domain (4);	.	.	.	.	T	0.45397	0.1340	N	0.02665	-0.54	0.80722	D	1	P;B;P	0.48162	0.708;0.34;0.906	B;B;P	0.49561	0.331;0.108;0.615	T	0.55082	-0.8196	9	0.26408	T	0.33	.	13.2789	0.60202	0.0772:0.0:0.9228:0.0	.	189;189;189	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	V	189;189;28;189;189	ENSP00000287152:L189V;ENSP00000362312:L189V;ENSP00000362309:L28V;ENSP00000362311:L189V;ENSP00000441435:L189V	ENSP00000287152:L189V	L	-	1	0	KIF6	39689017	1.000000	0.71417	0.992000	0.48379	0.690000	0.40134	2.279000	0.43435	2.640000	0.89533	0.650000	0.86243	CTC	KIF6	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.418	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	G	NM_145027		39581039	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	0.957	C	C	39581039	G	C	39581039	3	2	117	1	0	0	0	0	1	0	0	0	8328	942	33	1	1951	1	KIF6	6	39581039	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	68642	39581039	131534028	437	17905										
TRERF1	55809	genome.wustl.edu	37	chr6	42224486	42224486	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcacatcacctttggcctCaaacagagagtgcaaagcaa	7	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:42224486C>T	ENST00000372922.4	-	12	3122	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	TRERF1_ENST00000354325.2_Missense_Mutation_p.E771K|TRERF1_ENST00000541110.1_Missense_Mutation_p.E874K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E771K|TRERF1_ENST00000340840.2_Missense_Mutation_p.E771K	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	854	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTTGGCCTCAAACAGAGAG	0.418																																																	0													122	115	118					6																	42224486		2203	4300	6503	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2560G>A	6.37:g.42224486C>T	ENSP00000362013:p.Glu854Lys		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.E874K	ENST00000372922.4	37	c.2620	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679780	0.68042	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.74;2.67;2.67	5.74	5.74	0.90152	ELM2 domain (1);	0.000000	0.64402	D	0.000013	T	0.28200	0.0696	L	0.56199	1.76	0.80722	D	1	D;D;D;D;B	0.76494	0.999;0.999;0.999;0.999;0.296	D;D;D;D;P	0.75484	0.986;0.968;0.968;0.986;0.619	T	0.00438	-1.1739	10	0.56958	D	0.05	-29.3608	20.2982	0.98569	0.0:1.0:0.0:0.0	.	771;874;854;610;610	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	K	874;771;854;771;771	ENSP00000439689:E874K;ENSP00000362008:E771K;ENSP00000362013:E854K;ENSP00000339438:E771K;ENSP00000346285:E771K	ENSP00000339438:E771K	E	-	1	0	TRERF1	42332464	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	3.577000	0.53885	2.873000	0.98535	0.563000	0.77884	GAG	TRERF1	-	pfscan_ELM2_dom		0.418	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	C	NM_033502		42224486	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42224486	C	T	42224486	3	4	117	1	0	0	0	0	1	0	0	0	16506	835	29	1	1070	1	TRERF1	6	42224486	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2643447	42224486	128890581	438	17906										
YIPF3	25844	genome.wustl.edu	37	chr6	43483773	43483773	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgcagctcacccatatcctCgaagctagagcctgaggtat	9	12	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:43483773C>G	ENST00000372422.2	-	2	324	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	YIPF3_ENST00000506469.1_Missense_Mutation_p.E54Q|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	48					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCCATATCCTCGAAGCTAGAG	0.547																																																	0													95	87	90					6																	43483773		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.142G>C	6.37:g.43483773C>G	ENSP00000361499:p.Glu48Gln		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	NULL	p.E48Q	ENST00000372422.2	37	c.142	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822527	0.90873	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.81914	0.995;0.995;0.992	T	0.55860	-0.8074	10	0.59425	D	0.04	-20.0075	17.6073	0.88041	0.0:1.0:0.0:0.0	.	48;54;48	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	Q	48;48;54;48;13	ENSP00000361499:E48Q;ENSP00000425494:E54Q;ENSP00000421461:E48Q;ENSP00000421094:E13Q	ENSP00000259737:E48Q	E	-	1	0	YIPF3	43591751	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.087000	0.76893	2.585000	0.87301	0.460000	0.39030	GAG	YIPF3	-	NULL		0.547	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	C	NM_015388		43483773	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43483773	C	G	43483773	3	3	117	1	0	0	0	0	1	0	0	0	17510	893	31	1	942	1	YIPF3	6	43483773	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1259287	43483773	127631294	439	17907										
POLR1C	9533	genome.wustl.edu	37	chr6	43487119	43487119	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgaaaactcactggagtttGacatggtgggaattgacgca	12	6	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:43487119G>C	ENST00000372389.3	+	3	278	c.190G>C	c.(190-192)Gac>Cac	p.D64H	YIPF3_ENST00000506469.1_5'Flank|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.D64H|YIPF3_ENST00000372422.2_5'Flank|POLR1C_ENST00000372344.2_Missense_Mutation_p.D64H	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	64					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACTGGAGTTTGACATGGTGGG	0.448																																																	0													159	129	139					6																	43487119		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.190G>C	6.37:g.43487119G>C	ENSP00000361465:p.Asp64His		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.D64H	ENST00000372389.3	37	c.190	CCDS4901.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.884093|4.884093	0.91814|0.91814	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000428025;ENST00000372389;ENST00000372344;ENST00000304004|ENST00000423780	D;D;D;D|.	0.82803|.	-1.65;-1.65;-1.65;-1.65|.	5.07|5.07	5.07|5.07	0.68467|0.68467	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82618|.	0.5076|.	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	D|.	0.86183|.	0.1607|.	10|.	0.72032|.	D|.	0.01|.	-24.3137|-24.3137	18.4374|18.4374	0.90652|0.90652	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	64;64|.	O15160-2;O15160|.	.;RPAC1_HUMAN|.	H|S	9;64;64;64|63	ENSP00000395401:D9H;ENSP00000361465:D64H;ENSP00000361419:D64H;ENSP00000307212:D64H|.	ENSP00000307212:D64H|.	D|X	+|+	1|2	0|2	POLR1C|POLR1C	43595097|43595097	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.921000|0.921000	0.55340|0.55340	9.311000|9.311000	0.96282|0.96282	2.335000|2.335000	0.79485|0.79485	0.557000|0.557000	0.71058|0.71058	GAC|TGA	POLR1C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3		0.448	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	G	NM_004875		43487119	1	no_errors	ENST00000372389	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43487119	G	C	43487119	3	2	117	1	0	0	0	0	1	0	0	0	12235	1290	45	1	200	1	POLR1C	6	43487119	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3346	43487119	127627948	440	17908										
HSP90AB1	3326	genome.wustl.edu	37	chr6	44216453	44216453	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caactcatgtccctcatcatCaataccttctattccaacaa	1	15	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:44216453C>G	ENST00000371554.1	+	2	301	c.87C>G	c.(85-87)atC>atG	p.I29M	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I29M|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I29M			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	29					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCATCATCAATACCTTCT	0.428																																																	0													173	171	172					6																	44216453		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.87C>G	6.37:g.44216453C>G	ENSP00000360609:p.Ile29Met		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.I29M	ENST00000371554.1	37	c.87	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343865	0.61073	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.19938	2.11;2.11;2.11	4.26	1.27	0.21489	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000001	T	0.41373	0.1156	H	0.95884	3.735	0.80722	D	1	P;P	0.52463	0.942;0.953	D;P	0.64237	0.923;0.799	T	0.47381	-0.9122	10	0.66056	D	0.02	-14.4732	8.497	0.33134	0.0:0.7278:0.0:0.2722	.	29;29	B4DGL0;P08238	.;HS90B_HUMAN	M	29	ENSP00000360709:I29M;ENSP00000325875:I29M;ENSP00000360609:I29M	ENSP00000325875:I29M	I	+	3	3	HSP90AB1	44324431	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	1.674000	0.37544	0.016000	0.14998	-0.438000	0.05819	ATC	HSP90AB1	-	superfamily_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N		0.428	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	C	NM_007355		44216453	1	no_errors	ENST00000353801	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44216453	C	G	44216453	3	3	117	1	0	0	0	0	1	0	0	0	7422	816	29	1	89	1	HSP90AB1	6	44216453	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	729334	44216453	126898614	441	17909										
TDRD6	221400	genome.wustl.edu	37	chr6	46657139	46657139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtattatgtcagcctgtatgGagaagatgggattaatctga	12	4	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:46657139G>A	ENST00000316081.6	+	1	1274	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.G425E|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	425					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCCTGTATGGAGAAGATGGG	0.473																																																	0													90	91	91					6																	46657139		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1274G>A	6.37:g.46657139G>A	ENSP00000346065:p.Gly425Glu		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.G425E	ENST00000316081.6	37	c.1274	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297377	0.60086	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.43	5.16	5.16	0.70880	.	0.697001	0.14488	N	0.316507	T	0.25082	0.0609	M	0.63843	1.955	0.40462	D	0.980257	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.911	T	0.03608	-1.1020	10	0.07990	T	0.79	-20.7407	18.4423	0.90671	0.0:0.0:1.0:0.0	.	425;425	F5H5M3;O60522	.;TDRD6_HUMAN	E	425	ENSP00000443299:G425E;ENSP00000346065:G425E	ENSP00000346065:G425E	G	+	2	0	TDRD6	46765098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.097000	0.71452	2.661000	0.90470	0.655000	0.94253	GGA	TDRD6	-	NULL		0.473	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46657139	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46657139	G	A	46657139	3	1	117	1	0	0	0	0	1	0	0	0	15764	1174	41	1	1276	1	TDRD6	6	46657139	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2440686	46657139	124457928	442	17910										
GPR111	222611	genome.wustl.edu	37	chr6	47645599	47645599	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgcaagcaaaagcaaggaGaaggtgcctgccaggccaca	13	11	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:47645599G>A	ENST00000296862.1	+	3	297	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GPR111_ENST00000398742.2_Silent_p.E31E|GPR111_ENST00000507065.1_Silent_p.E31E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	99					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAAGCAAGGAGAAGGTGCCTG	0.448																																																	0													110	109	109					6																	47645599		1933	4122	6055	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.297G>A	6.37:g.47645599G>A			Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E99	ENST00000296862.1	37	c.297		6																																																																																			GPR111	-	NULL		0.448	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47645599	1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.913	A	A	47645599	G	A	47645599	2	1	117	1	0	0	0	0	0	0	0	1	6647	933	33	1		1	GPR111	6	47645599	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	988460	47645599	123469468	443	17911										
DEFB110	245913	genome.wustl.edu	37	chr6	49976901	49976901	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcagtatccataatcatactCaacatcatcacaaaacgttt	3	11	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:49976901C>G	ENST00000393660.2	-	2	138	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	50					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TAATCATACTCAACATCATCA	0.353																																																	0													185	173	177					6																	49976901		1891	4119	6010	SO:0001583	missense	245913			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000393660.2:c.139G>C	6.37:g.49976901C>G	ENSP00000377270:p.Glu47Gln		Q30KR0	Missense_Mutation	SNP	NULL	p.E47Q	ENST00000393660.2	37	c.139	CCDS43473.1	6	.	.	.	.	.	.	.	.	.	.	c	14.55	2.570200	0.45798	.	.	ENSG00000203970	ENST00000393660	T	0.73363	-0.74	4.9	4.9	0.64082	.	.	.	.	.	T	0.81950	0.4931	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82323	-0.0514	7	.	.	.	.	13.4692	0.61273	0.0:1.0:0.0:0.0	.	47	Q30KQ9-2	.	Q	47	ENSP00000377270:E47Q	.	E	-	1	0	DEFB110	50084860	0.975000	0.34042	0.984000	0.44739	0.615000	0.37417	3.194000	0.51005	2.559000	0.86315	0.580000	0.79431	GAG	DEFB110	-	NULL		0.353	DEFB110-001	KNOWN	basic|CCDS	protein_coding	DEFB110	HGNC	protein_coding	OTTHUMT00000359663.1	C	NM_001037728		49976901	-1	no_errors	ENST00000393660	ensembl	human	known	70_37	missense	SNP	0.993	G	G	49976901	C	G	49976901	3	3	117	1	0	0	0	0	1	0	0	0	4409	835	29	1	51	1	DEFB110	6	49976901	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2331302	49976901	121138166	444	17912										
TFAP2D	83741	genome.wustl.edu	37	chr6	50740508	50740508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggccaaggacatgccaactcGgagaaagctcccctgcggaa	12	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:50740508G>A	ENST00000008391.3	+	8	1518	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATGCCAACTCGGAGAAAGCTC	0.478																																																	0													59	55	56					6																	50740508		2203	4300	6503	SO:0001819	synonymous_variant	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1290G>A	6.37:g.50740508G>A				Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.S430	ENST00000008391.3	37	c.1290	CCDS4933.1	6																																																																																			TFAP2D	-	NULL		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	G	NM_172238		50740508	1	no_errors	ENST00000008391	ensembl	human	known	70_37	silent	SNP	0.991	A	A	50740508	G	A	50740508	2	1	117	1	0	0	0	0	0	0	0	1	15820	1103	39	2		2	TFAP2D	6	50740508	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	763607	50740508	120374559	445	17913										
LRRC1	55227	genome.wustl.edu	37	chr6	53787584	53787584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattgaccgagtgaccacttCtgtgtagagtttcacctcca	8	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:53787584C>T	ENST00000370888.1	+	14	1845	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	523						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GTGACCACTTCTGTGTAGAGT	0.478																																																	0													197	204	202					6																	53787584		2003	4172	6175	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1568C>T	6.37:g.53787584C>T	ENSP00000359925:p.Ser523Phe		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S523F	ENST00000370888.1	37	c.1568	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259798	0.80246	.	.	ENSG00000137269	ENST00000370888	T	0.40476	1.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.50996	-0.8761	10	0.72032	D	0.01	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	523	Q9BTT6	LRRC1_HUMAN	F	523	ENSP00000359925:S523F	ENSP00000359925:S523F	S	+	2	0	LRRC1	53895543	1.000000	0.71417	0.893000	0.35052	0.812000	0.45895	7.312000	0.78968	2.749000	0.94314	0.655000	0.94253	TCT	LRRC1	-	NULL		0.478	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	C	NM_025168		53787584	1	no_errors	ENST00000370888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53787584	C	T	53787584	3	4	117	1	0	0	0	0	1	0	0	0	8989	913	32	1	1622	1	LRRC1	6	53787584	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3047076	53787584	117327483	446	17914										
HMGCLL1	54511	genome.wustl.edu	37	chr6	55443818	55443818	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggagaagctgctggtagctGaggcagtgcttcaccgcgga	16	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:55443818G>A	ENST00000398661.2	-	1	167	c.36C>T	c.(34-36)ctC>ctT	p.L12L	HMGCLL1_ENST00000358072.5_Silent_p.L12L|HMGCLL1_ENST00000508459.1_Silent_p.L12L|HMGCLL1_ENST00000274901.4_Silent_p.L12L|HMGCLL1_ENST00000428842.1_Silent_p.L12L|HMGCLL1_ENST00000370850.2_Silent_p.L12L|HMGCLL1_ENST00000308161.4_Silent_p.L12L	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	12					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCTGGTAGCTGAGGCAGTGCT	0.701																																					Ovarian(35;840 893 7837 15538 42887)												0													25	28	27					6																	55443818		2001	4177	6178	SO:0001819	synonymous_variant	54511			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.36C>T	6.37:g.55443818G>A			B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	pfam_PYR_CT,pfscan_PYR_CT	p.L12	ENST00000398661.2	37	c.36	CCDS43475.1	6																																																																																			HMGCLL1	-	NULL		0.701	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	HGNC	protein_coding	OTTHUMT00000360290.1	G	XM_166383		55443818	-1	no_errors	ENST00000398661	ensembl	human	known	70_37	silent	SNP	0.999	A	A	55443818	G	A	55443818	2	1	117	1	0	0	0	0	0	0	0	1	7250	1277	45	1		1	HMGCLL1	6	55443818	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1656234	55443818	115671249	447	17915										
PRIM2	5558	genome.wustl.edu	37	chr6	57398204	57398204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggaaaatcaccatctttgtCatggaggccgaatgcagtat	11	8	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:57398204C>T	ENST00000607273.1	+	10	994	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	303					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCATCTTTGTCATGGAGGCCG	0.388																																																	0													272	248	256					6																	57398204		1954	4155	6109	SO:0001583	missense	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.907C>T	6.37:g.57398204C>T	ENSP00000475738:p.His303Tyr		Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000607273.1	37	NULL		6																																																																																			PRIM2	-	-		0.388	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		C	NM_000947		57398204	1	no_errors	ENST00000389488	ensembl	human	known	70_37	rna	SNP	1.000	T	T	57398204	C	T	57398204	3	4	117	1	0	0	0	0	1	0	0	0	12518	826	29	1	941	1	PRIM2	6	57398204	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1954386	57398204	113716863	448	17916										
EYS	346007	genome.wustl.edu	37	chr6	64430725	64430725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttatgtggatcaatatcctCggaaagaattagactgttat	8	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:64430725C>T	ENST00000370621.3	-	44	9791	c.9265G>A	c.(9265-9267)Gag>Aag	p.E3089K	EYS_ENST00000503581.1_Missense_Mutation_p.E3068K|EYS_ENST00000370616.2_Missense_Mutation_p.E3089K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	3089	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCAATATCCTCGGAAAGAATT	0.343																																																	0													50	40	43					6																	64430725		692	1589	2281	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.9265G>A	6.37:g.64430725C>T	ENSP00000359655:p.Glu3089Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E3089K	ENST00000370621.3	37	c.9265		6	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793450	0.50102	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.78595	-1.19;-1.19;-1.19	4.3	-1.48	0.08745	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.243894	0.32120	N	0.006545	T	0.47619	0.1455	M	0.64997	1.995	0.80722	D	1	B;B	0.33841	0.374;0.428	B;B	0.29942	0.066;0.109	T	0.35748	-0.9776	10	0.23302	T	0.38	.	4.5916	0.12310	0.0:0.4244:0.2997:0.2759	.	3068;3089	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	3068;3089;3089	ENSP00000424243:E3068K;ENSP00000359655:E3089K;ENSP00000359650:E3089K	ENSP00000359650:E3089K	E	-	1	0	EYS	64488684	1.000000	0.71417	0.004000	0.12327	0.832000	0.47134	0.887000	0.28254	-0.637000	0.05516	0.655000	0.94253	GAG	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.343	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64430725	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.995	T	T	64430725	C	T	64430725	3	4	117	1	0	0	0	0	1	0	0	0	5344	893	31	1	236	1	EYS	6	64430725	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7032521	64430725	106684342	449	17917										
EYS	346007	genome.wustl.edu	37	chr6	64431558	64431558	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtagccttctgcaccaactCttcctgcttttattatatgc	6	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:64431558C>G	ENST00000370621.3	-	44	8958	c.8432G>C	c.(8431-8433)aGa>aCa	p.R2811T	EYS_ENST00000503581.1_Missense_Mutation_p.R2790T|EYS_ENST00000370616.2_Missense_Mutation_p.R2811T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2811	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGCACCAACTCTTCCTGCTTT	0.388																																																	0													297	230	251					6																	64431558		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8432G>C	6.37:g.64431558C>G	ENSP00000359655:p.Arg2811Thr		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R2811T	ENST00000370621.3	37	c.8432		6	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597408	0.66332	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;T;T	0.82526	-1.62;-0.7;-0.7	4.71	3.84	0.44239	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	U	0.000003	D	0.85818	0.5785	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.84048	0.0368	10	0.22706	T	0.39	.	10.7015	0.45931	0.0:0.9112:0.0:0.0888	.	2790;2811	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	T	2790;2811;2811	ENSP00000424243:R2790T;ENSP00000359655:R2811T;ENSP00000359650:R2811T	ENSP00000359650:R2811T	R	-	2	0	EYS	64489517	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.119000	0.64679	0.968000	0.38212	0.650000	0.86243	AGA	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64431558	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64431558	C	G	64431558	3	3	117	1	0	0	0	0	1	0	0	0	5344	913	32	1	1069	1	EYS	6	64431558	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	833	64431558	106683509	450	17918										
RIMS1	22999	genome.wustl.edu	37	chr6	72922844	72922844	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcatgtgtgcacctgggattCatgtctcttcagaagggtgg	13	8	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:72922844C>T	ENST00000521978.1	+	7	1678				RIMS1_ENST00000401910.3_Missense_Mutation_p.H7Y|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Missense_Mutation_p.H7Y|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000518273.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACCTGGGATTCATGTCTCTTC	0.443																																																	0													239	200	212					6																	72922844		692	1591	2283	SO:0001627	intron_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1679-20632C>T	6.37:g.72922844C>T			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.H7Y	ENST00000521978.1	37	c.19	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787928	0.31593	.	.	ENSG00000079841	ENST00000401910;ENST00000523963	T;T	0.12361	2.7;2.69	6.04	5.07	0.68467	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.31926	N	0.612836	B;B	0.25272	0.122;0.037	B;B	0.14578	0.011;0.004	T	0.32613	-0.9900	9	0.87932	D	0	.	7.1125	0.25399	0.0:0.8638:0.0:0.1362	.	7;7	E9PHF5;E9PF48	.;.	Y	7	ENSP00000385649:H7Y;ENSP00000428328:H7Y	ENSP00000385649:H7Y	H	+	1	0	RIMS1	72979565	0.017000	0.18338	0.049000	0.19019	0.906000	0.53458	1.394000	0.34509	2.873000	0.98535	0.561000	0.74099	CAT	RIMS1	-	NULL		0.443	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			72922844	1	no_errors	ENST00000401910	ensembl	human	putative	70_37	missense	SNP	0.049	T	T	72922844	C	T	72922844	1	4	117	0	1	0	0	0	0	0	0	0	13397	826	29	1		1	RIMS1	6	72922844	Intron	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8491286	72922844	98192223	451	17919										
KHDC1L	100129128	genome.wustl.edu	37	chr6	73933558	73933558	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggacacgctctagcatcttCagacctgcaaaagaattgcc	8	13	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:73933558C>T	ENST00000370388.3	-	3	343	c.300G>A	c.(298-300)ctG>ctA	p.L100L	RP11-257K9.8_ENST00000423730.3_3'UTR|KHDC1L_ENST00000471312.1_5'Flank	NM_001126063.2	NP_001119535.1	Q5JSQ8	KHDCL_HUMAN	KH homology domain containing 1-like	100										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						CTAGCATCTTCAGACCTGCAA	0.567																																																	0													59	62	61					6																	73933558		692	1591	2283	SO:0001819	synonymous_variant	100129128			BC004267	CCDS47450.1	6q13	2014-05-15			ENSG00000256980	ENSG00000256980			37274	protein-coding gene	gene with protein product							Standard	NM_001126063		Approved	RP11-257K9.7	uc003pgm.4	Q5JSQ8	OTTHUMG00000132474	ENST00000370388.3:c.300G>A	6.37:g.73933558C>T			E1P535	Silent	SNP	NULL	p.L100	ENST00000370388.3	37	c.300	CCDS47450.1	6																																																																																			KHDC1L	-	NULL		0.567	KHDC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC1L	HGNC	protein_coding	OTTHUMT00000255640.1	C	NM_001126063		73933558	-1	no_errors	ENST00000370388	ensembl	human	known	70_37	silent	SNP	0.000	T	T	73933558	C	T	73933558	2	4	117	1	0	0	0	0	0	0	0	1	8165	813	29	1		1	KHDC1L	6	73933558	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1010714	73933558	97181509	452	17920										
EEF1A1	1915	genome.wustl.edu	37	chr6	74228906	74228906	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attcttggagataccagcttCaaattcaccaacaccagcag	6	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:74228906C>G	ENST00000316292.9	-	3	1361	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E124Q|EEF1A1_ENST00000309268.6_Missense_Mutation_p.E124Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	124	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ATACCAGCTTCAAATTCACCA	0.453											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													25	28	27					6																	74228906		2124	4264	6388	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.370G>C	6.37:g.74228906C>G	ENSP00000339063:p.Glu124Gln	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.E124Q	ENST00000316292.9	37	c.370	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309937	0.40895	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.43	4.43	0.53597	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.45196	0.1330	M	0.70787	2.145	0.80722	D	1	P;P;P;P	0.35542	0.508;0.508;0.508;0.508	B;B;B;B	0.41374	0.355;0.355;0.355;0.355	T	0.57242	-0.7845	10	0.87932	D	0	.	17.4834	0.87680	0.0:1.0:0.0:0.0	.	124;124;124;124	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	Q	124	ENSP00000339063:E124Q;ENSP00000339053:E124Q;ENSP00000330054:E124Q;ENSP00000348651:E124Q	ENSP00000339053:E124Q	E	-	1	0	EEF1A1	74285627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.495000	0.81514	2.176000	0.68965	0.549000	0.68633	GAA	EEF1A1	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.453	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	C	NM_001402		74228906	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74228906	C	G	74228906	3	3	117	1	0	0	0	0	1	0	0	0	4933	835	29	1	1038	1	EEF1A1	6	74228906	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	295348	74228906	96886161	453	17921										
EEF1A1	1915	genome.wustl.edu	37	chr6	74229171	74229171	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacaaggagatatcaatggtGataccacgttcacgctcagc	9	11	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:74229171G>C	ENST00000316292.9	-	2	1204	c.213C>G	c.(211-213)atC>atG	p.I71M	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I71M|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I71M	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	71	G2. {ECO:0000250}.|tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TATCAATGGTGATACCACGTT	0.423											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													74	84	81					6																	74229171		2201	4287	6488	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.213C>G	6.37:g.74229171G>C	ENSP00000339063:p.Ile71Met	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.I71M	ENST00000316292.9	37	c.213	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	g	10.33	1.321343	0.23994	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	3.97	2.17	0.27698	Protein synthesis factor, GTP-binding (6);	0.000000	0.64402	U	0.000001	T	0.80003	0.4544	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P;P	0.46578	0.152;0.88;0.88;0.88;0.88	B;P;P;P;P	0.59703	0.376;0.862;0.862;0.862;0.862	T	0.81147	-0.1065	10	0.87932	D	0	.	9.7014	0.40189	0.239:0.0:0.761:0.0	.	71;71;71;71;71	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	M	71	ENSP00000339063:I71M;ENSP00000339053:I71M;ENSP00000330054:I71M;ENSP00000348651:I71M;ENSP00000392366:I71M	ENSP00000339053:I71M	I	-	3	3	EEF1A1	74285892	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.028000	0.41088	0.458000	0.26988	-0.226000	0.12346	ATC	EEF1A1	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	G	NM_001402		74229171	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74229171	G	C	74229171	3	2	117	1	0	0	0	0	1	0	0	0	4933	1280	45	1	1199	1	EEF1A1	6	74229171	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	265	74229171	96885896	454	17922										
EEF1A1	1915	genome.wustl.edu	37	chr6	74229671	74229671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccaccgcatttatagatcaGatggccagtagtggtggact	12	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:74229671G>C	ENST00000316292.9	-	1	1070	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000331523.2_Missense_Mutation_p.L27V|EEF1A1_ENST00000309268.6_Missense_Mutation_p.L27V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	27	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTATAGATCAGATGGCCAGTA	0.413																																																	0													76	78	77					6																	74229671		2202	4296	6498	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.79C>G	6.37:g.74229671G>C	ENSP00000339063:p.Leu27Val		P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.L27V	ENST00000316292.9	37	c.79	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751985	0.49362	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.15	2.35	0.29111	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000007	T	0.75810	0.3900	M	0.89414	3.03	0.80722	D	1	P;P;P;P;P	0.52692	0.729;0.955;0.955;0.955;0.955	P;D;D;D;D	0.64595	0.576;0.927;0.927;0.927;0.927	T	0.79067	-0.1955	10	0.87932	D	0	.	10.1842	0.42986	0.1634:0.0:0.8366:0.0	.	27;27;27;27;27	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	V	27	ENSP00000339063:L27V;ENSP00000339053:L27V;ENSP00000330054:L27V;ENSP00000348651:L27V;ENSP00000392366:L27V	ENSP00000339053:L27V	L	-	1	2	EEF1A1	74286392	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.388000	0.73195	0.515000	0.28320	0.555000	0.69702	CTG	EEF1A1	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	G	NM_001402		74229671	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74229671	G	C	74229671	3	2	117	1	0	0	0	0	1	0	0	0	4933	933	33	1	1337	1	EEF1A1	6	74229671	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	500	74229671	96885396	455	17923										
COL12A1	1303	genome.wustl.edu	37	chr6	75825740	75825740	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtataaatgcttacctggtGaggtgtagccatccaaataa	9	7	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:75825740G>A	ENST00000322507.8	-	48	7862	c.7553C>T	c.(7552-7554)tCa>tTa	p.S2518L	COL12A1_ENST00000416123.2_Missense_Mutation_p.S2518L|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1354L|COL12A1_ENST00000483888.2_Missense_Mutation_p.S2518L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2518	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTACCTGGTGAGGTGTAGCC	0.313																																																	0													92	86	88					6																	75825740		1856	4079	5935	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7553C>T	6.37:g.75825740G>A	ENSP00000325146:p.Ser2518Leu		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S2518L	ENST00000322507.8	37	c.7553	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169751	0.78452	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	D;D;D;D;D;T	0.89681	-2.1;-2.55;-2.2;-2.06;-2.07;0.66	4.54	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);	0.079635	0.52532	D	0.000070	T	0.78861	0.4350	N	0.10760	0.04	0.41599	D	0.988847	D;P	0.61697	0.99;0.947	P;P	0.57152	0.814;0.643	T	0.80730	-0.1252	10	0.33940	T	0.23	.	12.7789	0.57466	0.0802:0.0:0.9198:0.0	.	1354;2518	Q99715-2;Q99715	.;COCA1_HUMAN	L	2518;156;2518;1354;2518;2518;72	ENSP00000325146:S2518L;ENSP00000399812:S156L;ENSP00000305147:S1354L;ENSP00000412864:S2518L;ENSP00000421216:S2518L;ENSP00000423423:S72L	ENSP00000325146:S2518L	S	-	2	0	COL12A1	75882460	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.174000	0.94824	1.024000	0.39682	-0.136000	0.14681	TCA	COL12A1	-	superfamily_ConA-like_lec_gl_sf		0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75825740	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75825740	G	A	75825740	3	1	117	1	0	0	0	0	1	0	0	0	3674	1294	45	1	1714	1	COL12A1	6	75825740	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1596069	75825740	95289327	456	17924										
LCA5	167691	genome.wustl.edu	37	chr6	80196912	80196912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agggagaaaatttagagggtCaatgtctcctttactggaag	12	5	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:80196912C>G	ENST00000392959.1	-	9	2514	c.1903G>C	c.(1903-1905)Gac>Cac	p.D635H	LCA5_ENST00000369846.4_Missense_Mutation_p.D635H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	635					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTAGAGGGTCAATGTCTCCT	0.418																																																	0													139	143	142					6																	80196912		2203	4300	6503	SO:0001583	missense	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1903G>C	6.37:g.80196912C>G	ENSP00000376686:p.Asp635His		E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.D635H	ENST00000392959.1	37	c.1903	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354597	0.41700	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.36878	1.23;1.23	5.38	5.38	0.77491	.	0.332670	0.29431	N	0.012174	T	0.44222	0.1283	L	0.56769	1.78	0.28957	N	0.890074	D	0.64830	0.994	P	0.60473	0.875	T	0.34428	-0.9829	10	0.54805	T	0.06	-6.8926	18.1251	0.89583	0.0:1.0:0.0:0.0	.	635	Q86VQ0	LCA5_HUMAN	H	635	ENSP00000358861:D635H;ENSP00000376686:D635H	ENSP00000358861:D635H	D	-	1	0	LCA5	80253631	0.248000	0.23930	0.215000	0.23724	0.196000	0.23810	3.068000	0.50018	2.504000	0.84457	0.573000	0.79308	GAC	LCA5	-	NULL		0.418	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	C	NM_181714		80196912	-1	no_errors	ENST00000369846	ensembl	human	known	70_37	missense	SNP	0.532	G	G	80196912	C	G	80196912	3	3	117	1	0	0	0	0	1	0	0	0	8676	826	29	1	194	1	LCA5	6	80196912	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4371172	80196912	90918155	457	17925										
UBE2CBP	90025	genome.wustl.edu	37	chr6	83767592	83767592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcgcaggtgcagtccatctCcaacaacaaactgtagccca	8	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:83767592C>G	ENST00000369747.3	-	2	349	c.227G>C	c.(226-228)gGa>gCa	p.G76A		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	76					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CAGTCCATCTCCAACAACAAA	0.468											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	76	77					6																	83767592		2203	4300	6503	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.227G>C	6.37:g.83767592C>G	ENSP00000358762:p.Gly76Ala	1224	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.G76A	ENST00000369747.3	37	c.227	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725724	0.48833	.	.	ENSG00000118420	ENST00000369747	T	0.28895	1.59	5.27	4.41	0.53225	.	0.232876	0.44483	D	0.000458	T	0.42268	0.1195	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.41752	-0.9491	10	0.52906	T	0.07	-10.7945	11.2983	0.49290	0.0:0.9148:0.0:0.0852	.	76;76	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	A	76	ENSP00000358762:G76A	ENSP00000358762:G76A	G	-	2	0	UBE2CBP	83824311	0.897000	0.30589	0.851000	0.33527	0.329000	0.28539	2.786000	0.47790	1.467000	0.48044	0.650000	0.86243	GGA	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot		0.468	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	C	NM_198920		83767592	-1	no_errors	ENST00000369747	ensembl	human	known	70_37	missense	SNP	0.975	G	G	83767592	C	G	83767592	3	3	117	1	0	0	0	0	1	0	0	0	16878	855	30	1	978	1	UBE2CBP	6	83767592	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3570680	83767592	87347475	458	17926										
DOPEY1	23033	genome.wustl.edu	37	chr6	83846971	83846971	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaatagagaactttagtctCactgtgaatccattaagtga	8	6	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:83846971C>T	ENST00000349129.2	+	21	3470	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	DOPEY1_ENST00000369739.3_Silent_p.L1061L|DOPEY1_ENST00000237163.5_Silent_p.L1051L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1070					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTTTAGTCTCACTGTGAATC	0.393																																																	0													88	85	86					6																	83846971		2203	4299	6502	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3210C>T	6.37:g.83846971C>T			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.L1070	ENST00000349129.2	37	c.3210	CCDS4996.1	6																																																																																			DOPEY1	-	superfamily_ARM-type_fold		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83846971	1	no_errors	ENST00000349129	ensembl	human	known	70_37	silent	SNP	0.861	T	T	83846971	C	T	83846971	2	4	117	1	0	0	0	0	0	0	0	1	4717	813	29	1		1	DOPEY1	6	83846971	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	79379	83846971	87268096	459	17927										
RARS2	57038	genome.wustl.edu	37	chr6	88265183	88265183	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaaaagttcactttttaatCcatattttgagccatcttca	4	8	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:88265183C>G	ENST00000369536.5	-	5	383	c.338G>C	c.(337-339)gGa>gCa	p.G113A		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	113					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACTTTTTAATCCATATTTTGA	0.343																																																	0													110	107	108					6																	88265183		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.338G>C	6.37:g.88265183C>G	ENSP00000358549:p.Gly113Ala		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.G113A	ENST00000369536.5	37	c.338	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261902|4.261902	0.80358|0.80358	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|D	.|0.95690	.|-3.78	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Arginyl tRNA synthetase, class Ia, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97760|0.97760	0.9265|0.9265	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.97514|0.97514	1.0068|1.0068	5|10	.|0.51188	.|T	.|0.08	.|.	18.5727|18.5727	0.91142|0.91142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|113	.|Q5T160	.|SYRM_HUMAN	H|A	141|113;140	.|ENSP00000358549:G113A	.|ENSP00000358536:G140A	D|G	-|-	1|2	0|0	RARS2|RARS2	88321902|88321902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.319000|5.319000	0.65835|0.65835	2.676000|2.676000	0.91093|0.91093	0.586000|0.586000	0.80456|0.80456	GAT|GGA	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.343	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265183	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88265183	C	G	88265183	3	3	117	1	0	0	0	0	1	0	0	0	13089	855	30	1	1462	1	RARS2	6	88265183	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4418212	88265183	82849884	460	17928										
MDN1	23195	genome.wustl.edu	37	chr6	90382015	90382015	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctgcacgtgcaaagtgctCacatcggcccagaagtcatc	9	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:90382015C>T	ENST00000369393.3	-	82	13813	c.13698G>A	c.(13696-13698)gtG>gtA	p.V4566V	MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.V4566V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4566					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAAAGTGCTCACATCGGCCC	0.468																																																	0													127	116	120					6																	90382015		2203	4300	6503	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13698G>A	6.37:g.90382015C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V4566	ENST00000369393.3	37	c.13698	CCDS5024.1	6																																																																																			MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90382015	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90382015	C	T	90382015	2	4	117	1	0	0	0	0	0	0	0	1	9438	813	29	1		1	MDN1	6	90382015	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2116832	90382015	80733052	461	17929										
CASP8AP2	9994	genome.wustl.edu	37	chr6	90577366	90577366	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taccatcgcctctgaagtcaGatggtcatctcagtttttta	7	10	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:90577366G>A	ENST00000551025.1	+	0	5794									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTGAAGTCAGATGGTCATCT	0.408																																					Colon(187;1656 2025 17045 31481 39901)												0													91	89	89					6																	90577366		1881	4109	5990			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577366G>A				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.408	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90577366	1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	1.000	A	A	90577366	G	A	90577366	1	1	117	0	1	0	0	0	0	0	0	0	2683	942	33	1		1	CASP8AP2	6	90577366	RNA	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	195351	90577366	80537701	462	17930										
GJA10	84694	genome.wustl.edu	37	chr6	90605031	90605031	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattgcctgaaagaatctctCcacttcaagctaacaatcaa	4	12	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:90605031C>G	ENST00000369352.1	+	1	844	c.844C>G	c.(844-846)Cca>Gca	p.P282A	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AAGAATCTCTCCACTTCAAGC	0.443																																																	0													83	76	78					6																	90605031		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.844C>G	6.37:g.90605031C>G	ENSP00000358358:p.Pro282Ala		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.P282A	ENST00000369352.1	37	c.844	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.211062	0.00289	.	.	ENSG00000135355	ENST00000369352	D	0.97256	-4.31	4.93	0.832	0.18867	.	1.387860	0.04509	N	0.382501	T	0.80132	0.4567	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.14023	0.01	T	0.79750	-0.1672	10	0.10111	T	0.7	.	3.5491	0.07839	0.0:0.3707:0.1952:0.4341	.	282	Q969M2	CXA10_HUMAN	A	282	ENSP00000358358:P282A	ENSP00000358358:P282A	P	+	1	0	GJA10	90661752	0.000000	0.05858	0.180000	0.23079	0.514000	0.34195	0.007000	0.13174	0.267000	0.21916	0.563000	0.77884	CCA	GJA10	-	NULL		0.443	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	C	NM_032602		90605031	1	no_errors	ENST00000369352	ensembl	human	known	70_37	missense	SNP	0.035	G	G	90605031	C	G	90605031	3	3	117	1	0	0	0	0	1	0	0	0	6420	855	30	1	846	1	GJA10	6	90605031	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	27665	90605031	80510036	463	17931										
FBXL4	26235	genome.wustl.edu	37	chr6	99365576	99365576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attcaccttcgtaggtctctCtgaccaaagaatctcccatc	5	14	4	2	rs199923936		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:99365576C>G	ENST00000369244.2	-	5	960	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	FBXL4_ENST00000229971.1_Missense_Mutation_p.E178Q	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	178					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GTAGGTCTCTCTGACCAAAGA	0.398																																																	0													82	86	85					6																	99365576		2203	4300	6503	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.532G>C	6.37:g.99365576C>G	ENSP00000358247:p.Glu178Gln		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.E178Q	ENST00000369244.2	37	c.532	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574498	0.65878	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.14766	2.48;2.48	5.78	5.78	0.91487	.	0.051465	0.85682	D	0.000000	T	0.10121	0.0248	L	0.50333	1.59	0.49130	D	0.99975	B	0.31153	0.31	B	0.34138	0.176	T	0.08166	-1.0735	10	0.30078	T	0.28	.	19.6064	0.95583	0.0:1.0:0.0:0.0	.	178	Q9UKA2	FBXL4_HUMAN	Q	178	ENSP00000358247:E178Q;ENSP00000229971:E178Q	ENSP00000229971:E178Q	E	-	1	0	FBXL4	99472297	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.732000	0.93576	0.591000	0.81541	GAG	FBXL4	-	NULL		0.398	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	C			99365576	-1	no_errors	ENST00000229971	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99365576	C	G	99365576	3	3	117	1	0	0	0	0	1	0	0	0	5739	922	32	1	1357	1	FBXL4	6	99365576	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8760545	99365576	71749491	464	17932										
QRSL1	55278	genome.wustl.edu	37	chr6	107110891	107110891	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttgtcaaagcacagaaagtGagacgcctcattgctaatga	9	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:107110891G>A	ENST00000369046.4	+	10	1301	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CACAGAAAGTGAGACGCCTCA	0.348																																					NSCLC(192;2127 2142 11668 26277 49545)												0													101	93	96					6																	107110891		2203	4300	6503	SO:0001819	synonymous_variant	55278			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1197G>A	6.37:g.107110891G>A				Silent	SNP	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	p.V399	ENST00000369046.4	37	c.1197	CCDS5057.1	6																																																																																			QRSL1	-	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA		0.348	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	QRSL1	HGNC	protein_coding	OTTHUMT00000041667.1	G	NM_018292		107110891	1	no_errors	ENST00000369046	ensembl	human	known	70_37	silent	SNP	0.993	A	A	107110891	G	A	107110891	2	1	117	1	0	0	0	0	0	0	0	1	12911	1277	45	1		1	QRSL1	6	107110891	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7745315	107110891	64004176	465	17933										
BEND3	57673	genome.wustl.edu	37	chr6	107392134	107392134	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcgagctgttctcacggttCcgcatgcctgctaggagagc	14	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:107392134C>T	ENST00000369042.1	-	4	451	c.261G>A	c.(259-261)cgG>cgA	p.R87R	BEND3_ENST00000429433.2_Silent_p.R87R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	87										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TCTCACGGTTCCGCATGCCTG	0.572																																																	0													26	26	26					6																	107392134		2203	4300	6503	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.261G>A	6.37:g.107392134C>T			A2RRH2|Q9HCL9	Silent	SNP	pfam_BEN_domain	p.R87	ENST00000369042.1	37	c.261	CCDS34507.1	6																																																																																			BEND3	-	NULL		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107392134	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	silent	SNP	0.996	T	T	107392134	C	T	107392134	2	4	117	1	0	0	0	0	0	0	0	1	1400	842	30	1		1	BEND3	6	107392134	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	281243	107392134	63722933	466	17934										
REV3L	5980	genome.wustl.edu	37	chr6	111634580	111634580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaacagcagggcaggaatctCttctgactgtttctattcct	8	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:111634580C>G	ENST00000358835.3	-	29	9033	c.8579G>C	c.(8578-8580)aGa>aCa	p.R2860T	REV3L_ENST00000368802.3_Missense_Mutation_p.R2860T|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.R2860T|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.R2782T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2860					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCAGGAATCTCTTCTGACTGT	0.373								DNA polymerases (catalytic subunits)																																									0													122	115	117					6																	111634580		2203	4300	6503	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8579G>C	6.37:g.111634580C>G	ENSP00000351697:p.Arg2860Thr		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R2860T	ENST00000358835.3	37	c.8579	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	33	5.197453	0.94960	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.78	5.78	0.91487	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64947	-0.6287	10	0.87932	D	0	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	2860	O60673	DPOLZ_HUMAN	T	2860;2860;2860;2782	ENSP00000357792:R2860T;ENSP00000357795:R2860T;ENSP00000351697:R2860T;ENSP00000402003:R2782T	ENSP00000351697:R2860T	R	-	2	0	REV3L	111741273	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.786000	0.85741	2.722000	0.93159	0.650000	0.86243	AGA	REV3L	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	C	NM_002912		111634580	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111634580	C	G	111634580	3	3	117	1	0	0	0	0	1	0	0	0	13270	913	32	1	833	1	REV3L	6	111634580	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4242446	111634580	59480487	467	17935										
RFPL4B	442247	genome.wustl.edu	37	chr6	112671250	112671250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccttgtcttctccaatgatCtaagaagcgctcagtgtaag	8	10	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:112671250C>G	ENST00000441065.2	+	3	652	c.340C>G	c.(340-342)Cta>Gta	p.L114V	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	114	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTCCAATGATCTAAGAAGCGC	0.552																																																	0													66	67	67					6																	112671250		2203	4300	6503	SO:0001583	missense	442247			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.340C>G	6.37:g.112671250C>G	ENSP00000423391:p.Leu114Val		A2RU91	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L114V	ENST00000441065.2	37	c.340	CCDS34515.1	6	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479616	0.26511	.	.	ENSG00000251258	ENST00000441065	T	0.62639	0.01	4.14	2.32	0.28847	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.400477	0.14851	N	0.294669	T	0.48370	0.1496	M	0.80183	2.485	0.09310	N	1	P	0.47350	0.894	B	0.43950	0.437	T	0.38286	-0.9668	10	0.49607	T	0.09	.	8.0642	0.30651	0.0:0.7906:0.0:0.2094	.	114	Q6ZWI9	RFPLB_HUMAN	V	114	ENSP00000423391:L114V	ENSP00000423391:L114V	L	+	1	2	RFPL4B	112777943	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.120000	0.10660	0.683000	0.31428	0.655000	0.94253	CTA	RFPL4B	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.552	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL4B	HGNC	protein_coding	OTTHUMT00000041885.2	C	NM_001013734		112671250	1	no_errors	ENST00000441065	ensembl	human	known	70_37	missense	SNP	0.010	G	G	112671250	C	G	112671250	3	3	117	1	0	0	0	0	1	0	0	0	13286	912	32	1	342	1	RFPL4B	6	112671250	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1036670	112671250	58443817	468	17936										
FAM26F	441168	genome.wustl.edu	37	chr6	116783191	116783191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acggcgggcggggagcgcatCttctccgccgtggcattcca	15	14	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:116783191C>G	ENST00000368605.1	+	2	194	c.99C>G	c.(97-99)atC>atG	p.I33M	FAM26F_ENST00000368606.3_Intron|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	33					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GGGAGCGCATCTTCTCCGCCG	0.682																																																	0													19	15	17					6																	116783191		2051	4030	6081	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.99C>G	6.37:g.116783191C>G	ENSP00000357594:p.Ile33Met		B9EJB0|Q5R3K4	Missense_Mutation	SNP	NULL	p.I33M	ENST00000368605.1	37	c.99	CCDS34519.1	6	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292594	0.59976	.	.	ENSG00000188820	ENST00000368605	T	0.19250	2.16	4.77	2.98	0.34508	.	0.420887	0.23714	N	0.045295	T	0.10078	0.0247	M	0.72894	2.215	0.40681	D	0.982301	P	0.37663	0.604	B	0.33454	0.164	T	0.05321	-1.0892	10	0.30078	T	0.28	-13.5919	10.2986	0.43639	0.0:0.7909:0.1353:0.0739	.	33	Q5R3K3	FA26F_HUMAN	M	33	ENSP00000357594:I33M	ENSP00000357594:I33M	I	+	3	3	FAM26F	116889884	0.999000	0.42202	0.999000	0.59377	0.702000	0.40608	0.708000	0.25719	0.605000	0.29947	-0.327000	0.08410	ATC	FAM26F	-	NULL		0.682	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26F	HGNC	protein_coding	OTTHUMT00000041946.1	C	NM_001010919		116783191	1	no_errors	ENST00000368605	ensembl	human	known	70_37	missense	SNP	1.000	G	G	116783191	C	G	116783191	3	3	117	1	0	0	0	0	1	0	0	0	5569	903	32	1	101	1	FAM26F	6	116783191	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4111941	116783191	54331876	469	17937										
ROS1	6098	genome.wustl.edu	37	chr6	117658469	117658469	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagcaggaccttggctgcatGaagttttaacatggtaaaac	10	7	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:117658469G>A	ENST00000368508.3	-	31	5312	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	ROS1_ENST00000368507.3_Missense_Mutation_p.S1699L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1705	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGGCTGCATGAAGTTTTAAC	0.308			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													90	88	89					6																	117658469		2202	4299	6501	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5114C>T	6.37:g.117658469G>A	ENSP00000357494:p.Ser1705Leu		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1705L	ENST00000368508.3	37	c.5114	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670987	0.67814	.	.	ENSG00000047936	ENST00000368508;ENST00000368507;ENST00000403284	T;T;T	0.55760	0.5;0.5;0.58	5.03	4.14	0.48551	.	0.287012	0.24547	N	0.037585	T	0.25791	0.0628	N	0.17082	0.46	0.80722	D	1	P	0.38978	0.652	B	0.44224	0.444	T	0.05305	-1.0893	10	0.33940	T	0.23	.	8.6957	0.34293	0.1028:0.0:0.8972:0.0	.	1705	P08922	ROS1_HUMAN	L	1705;1699;12	ENSP00000357494:S1705L;ENSP00000357493:S1699L;ENSP00000384647:S12L	ENSP00000357493:S1699L	S	-	2	0	ROS1	117765162	0.324000	0.24652	0.993000	0.49108	0.962000	0.63368	2.113000	0.41902	2.498000	0.84270	0.655000	0.94253	TCA	ROS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.308	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117658469	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	0.822	A	A	117658469	G	A	117658469	3	1	117	1	0	0	0	0	1	0	0	0	13561	1294	45	1	1981	1	ROS1	6	117658469	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	875278	117658469	53456598	470	17938										
RNF146	81847	genome.wustl.edu	37	chr6	127608657	127608657	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagtgatagtgaggatgtatCtgcagttgttgcacagcact	12	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:127608657C>G	ENST00000368314.1	+	3	1323	c.899C>G	c.(898-900)tCt>tGt	p.S300C	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.S300C|RNF146_ENST00000309649.3_Missense_Mutation_p.S299C|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000608991.1_Missense_Mutation_p.S299C	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	300					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GAGGATGTATCTGCAGTTGTT	0.468																																																	0													165	155	158					6																	127608657		2203	4300	6503	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.899C>G	6.37:g.127608657C>G	ENSP00000357297:p.Ser300Cys		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.S300C	ENST00000368314.1	37	c.899	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	C	5.139	0.211287	0.09757	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25085	1.82;1.82;1.82	5.41	5.41	0.78517	.	0.449748	0.23141	N	0.051463	T	0.11367	0.0277	N	0.22421	0.69	0.26750	N	0.970228	P	0.39131	0.661	B	0.36186	0.219	T	0.11792	-1.0573	10	0.66056	D	0.02	-2.5635	19.4119	0.94677	0.0:1.0:0.0:0.0	.	300	Q9NTX7	RN146_HUMAN	C	300;299;299	ENSP00000357297:S300C;ENSP00000349253:S299C;ENSP00000309365:S299C	ENSP00000309365:S299C	S	+	2	0	RNF146	127650350	1.000000	0.71417	0.780000	0.31762	0.183000	0.23260	3.653000	0.54446	2.824000	0.97209	0.650000	0.86243	TCT	RNF146	-	NULL		0.468	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	C	NM_030963		127608657	1	no_errors	ENST00000368314	ensembl	human	known	70_37	missense	SNP	0.970	G	G	127608657	C	G	127608657	3	3	117	1	0	0	0	0	1	0	0	0	13478	913	32	1	898	1	RNF146	6	127608657	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9950188	127608657	43506410	471	17939										
ENPP1	5167	genome.wustl.edu	37	chr6	132207745	132207745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaaattttgattccaactCacttctttattgtgctaaca	4	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:132207745C>T	ENST00000360971.2	+	24	2508	c.2488C>T	c.(2488-2490)Cac>Tac	p.H830Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	830	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GATTCCAACTCACTTCTTTAT	0.353																																					Colon(104;336 1535 5856 11019 33782)												0													80	74	76					6																	132207745		2203	4300	6503	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2488C>T	6.37:g.132207745C>T	ENSP00000354238:p.His830Tyr		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.H830Y	ENST00000360971.2	37	c.2488	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878689	0.91740	.	.	ENSG00000197594	ENST00000360971	T	0.68624	-0.34	6.07	6.07	0.98685	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.049107	0.85682	D	0.000000	D	0.84710	0.5532	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86241	0.1643	10	0.87932	D	0	-21.7373	20.2544	0.98414	0.0:1.0:0.0:0.0	.	830	P22413	ENPP1_HUMAN	Y	830	ENSP00000354238:H830Y	ENSP00000354238:H830Y	H	+	1	0	ENPP1	132249438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.357000	0.73051	2.885000	0.99019	0.655000	0.94253	CAC	ENPP1	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	C			132207745	1	no_errors	ENST00000360971	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132207745	C	T	132207745	3	4	117	1	0	0	0	0	1	0	0	0	5141	826	29	1	2582	1	ENPP1	6	132207745	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4599088	132207745	38907322	472	17940										
KIAA1244	57221	genome.wustl.edu	37	chr6	138612946	138612946	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agccccctctgaccatcagcCagccccagaaggccactgga	9	18	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:138612946C>T	ENST00000251691.4	+	19	3290	c.3124C>T	c.(3124-3126)Cag>Tag	p.Q1042*		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCATCAGCCAGCCCCAGAA	0.662																																																	0													21	22	22					6																	138612946		2203	4298	6501	SO:0001587	stop_gained	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3124C>T	6.37:g.138612946C>T	ENSP00000251691:p.Gln1042*			Nonsense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.Q1042*	ENST00000251691.4	37	c.3124	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	44	10.598065	0.99434	.	.	ENSG00000112379	ENST00000251691	.	.	.	5.55	5.55	0.83447	.	0.297104	0.35585	N	0.003106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-36.0864	19.1035	0.93283	0.0:1.0:0.0:0.0	.	.	.	.	X	1042	.	ENSP00000251691:Q1042X	Q	+	1	0	KIAA1244	138654639	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.185000	0.58330	2.612000	0.88384	0.655000	0.94253	CAG	KIAA1244	-	superfamily_ARM-type_fold		0.662	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138612946	1	no_errors	ENST00000251691	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	138612946	C	T	138612946	4	4	117	1	0	0	0	0	0	1	0	0	8237	595	21	4	3198	4	KIAA1244	6	138612946	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6405201	138612946	32502121	473	17941										
HIVEP2	3097	genome.wustl.edu	37	chr6	143074992	143074992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctcagggaaaaggctggagCctggatgttcataagcacct	12	10	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:143074992C>T	ENST00000367604.1	-	9	7232	c.6593G>A	c.(6592-6594)gGc>gAc	p.G2198D	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G2198D|HIVEP2_ENST00000367603.2_Missense_Mutation_p.G2198D|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAGGCTGGAGCCTGGATGTTC	0.488																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													92	92	92					6																	143074992		1918	4118	6036	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6593G>A	6.37:g.143074992C>T	ENSP00000356576:p.Gly2198Asp		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G2198D	ENST00000367604.1	37	c.6593	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550945	0.27739	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02395	4.31;4.31;4.31	5.65	5.65	0.86999	.	0.309417	0.40302	N	0.001121	T	0.01387	0.0045	L	0.33485	1.01	0.42518	D	0.992991	P	0.38922	0.651	B	0.28139	0.086	T	0.65660	-0.6114	10	0.33141	T	0.24	-20.7007	19.7301	0.96179	0.0:1.0:0.0:0.0	.	2198	P31629	ZEP2_HUMAN	D	2198	ENSP00000356576:G2198D;ENSP00000356575:G2198D;ENSP00000012134:G2198D	ENSP00000012134:G2198D	G	-	2	0	HIVEP2	143116685	0.344000	0.24827	1.000000	0.80357	0.998000	0.95712	3.248000	0.51430	2.676000	0.91093	0.655000	0.94253	GGC	HIVEP2	-	NULL		0.488	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143074992	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	0.967	T	T	143074992	C	T	143074992	3	4	117	1	0	0	0	0	1	0	0	0	7207	739	26	4	751	4	HIVEP2	6	143074992	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4462046	143074992	28040075	474	17942										
FUCA2	2519	genome.wustl.edu	37	chr6	143816982	143816982	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtccatggcccagtagtttCacctgaaattaaaaacatac	6	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:143816982C>T	ENST00000002165.6	-	7	1321	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	422					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCAGTAGTTTCACCTGAAATT	0.388																																																	0													86	81	83					6																	143816982		2203	4300	6503	SO:0001819	synonymous_variant	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1266G>A	6.37:g.143816982C>T			E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.V422	ENST00000002165.6	37	c.1266	CCDS5200.1	6																																																																																			FUCA2	-	pirsf_Glyco_hydro_29_sub		0.388	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	C	NM_032020		143816982	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	silent	SNP	0.990	T	T	143816982	C	T	143816982	2	4	117	1	0	0	0	0	0	0	0	1	6113	813	29	1		1	FUCA2	6	143816982	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	741990	143816982	27298085	475	17943										
UTRN	7402	genome.wustl.edu	37	chr6	144783982	144783982	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atttgcttgaggaaattgctCtcacactcagagcttttgag	9	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:144783982C>T	ENST00000367545.3	+	22	3046	c.3046C>T	c.(3046-3048)Ctc>Ttc	p.L1016F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1016					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)			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)		GGAAATTGCTCTCACACTCAG	0.343																																																	0													84	95	91					6																	144783982		2203	4300	6503	SO:0001583	missense	7402			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.3046C>T	6.37:g.144783982C>T	ENSP00000356515:p.Leu1016Phe		Q5SYY1|Q5SZ57|Q9UJ40	Missense_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.L1016F	ENST00000367545.3	37	c.3046	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328750	0.24167	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.60040	0.22	5.47	2.2	0.27929	.	0.547984	0.16610	N	0.206942	T	0.21186	0.0510	N	0.08118	0	0.44956	D	0.997972	B	0.33477	0.413	B	0.36504	0.226	T	0.08249	-1.0731	10	0.54805	T	0.06	.	9.8659	0.41142	0.0:0.5678:0.0:0.4322	.	1016	P46939	UTRO_HUMAN	F	1016	ENSP00000356515:L1016F	ENSP00000356499:L1016F	L	+	1	0	UTRN	144825675	0.095000	0.21747	0.188000	0.23233	0.552000	0.35366	0.245000	0.18142	0.109000	0.17891	0.655000	0.94253	CTC	UTRN	-	pirsf_Dystrophin/utrophin		0.343	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			144783982	1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	0.095	T	T	144783982	C	T	144783982	3	4	117	1	0	0	0	0	1	0	0	0	17134	913	32	1	3132	1	UTRN	6	144783982	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	967000	144783982	26331085	476	17944										
STXBP5	134957	genome.wustl.edu	37	chr6	147635411	147635411	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttttataggaatggcccatCaacggaggtaattggggctt	12	6	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:147635411C>T	ENST00000321680.6	+	13	1305	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	STXBP5_ENST00000179882.6_Silent_p.I106I|STXBP5_ENST00000367481.3_Silent_p.I435I|STXBP5_ENST00000367480.3_Silent_p.I435I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	435					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AATGGCCCATCAACGGAGGTA	0.383																																																	0													97	106	103					6																	147635411		2202	4300	6502	SO:0001819	synonymous_variant	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1305C>T	6.37:g.147635411C>T			Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.I435	ENST00000321680.6	37	c.1305	CCDS47499.1	6																																																																																			STXBP5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	C			147635411	1	no_errors	ENST00000321680	ensembl	human	known	70_37	silent	SNP	0.997	T	T	147635411	C	T	147635411	2	4	117	1	0	0	0	0	0	0	0	1	15386	816	29	1		1	STXBP5	6	147635411	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2851429	147635411	23479656	477	17945										
LATS1	9113	genome.wustl.edu	37	chr6	149983239	149983239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattgttttaaaaaatggatGagcttttatttcatcagcac	6	5	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:149983239G>A	ENST00000543571.1	-	8	3566	c.3019C>T	c.(3019-3021)Cat>Tat	p.H1007Y	LATS1_ENST00000253339.5_Missense_Mutation_p.H1007Y	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAAAATGGATGAGCTTTTATT	0.388																																																	0													126	130	128					6																	149983239		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3019C>T	6.37:g.149983239G>A	ENSP00000437550:p.His1007Tyr			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.H1007Y	ENST00000543571.1	37	c.3019	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152842	0.78001	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.11930	2.73;2.73	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000064	T	0.37839	0.1018	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.35895	-0.9770	9	.	.	.	.	19.2848	0.94066	0.0:0.0:1.0:0.0	.	1007	O95835	LATS1_HUMAN	Y	1007	ENSP00000437550:H1007Y;ENSP00000253339:H1007Y	.	H	-	1	0	LATS1	150024932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.562000	0.86427	0.591000	0.81541	CAT	LATS1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		149983239	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149983239	G	A	149983239	3	1	117	1	0	0	0	0	1	0	0	0	8666	1290	45	1	377	1	LATS1	6	149983239	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2347828	149983239	21131828	478	17946										
AKAP12	9590	genome.wustl.edu	37	chr6	151673169	151673169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcacagaagcagaggcagttCctgcacagaaagagaggcct	13	10	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:151673169C>T	ENST00000253332.1	+	3	3832	c.3643C>T	c.(3643-3645)Cct>Tct	p.P1215S	AKAP12_ENST00000359755.5_Missense_Mutation_p.P1110S|AKAP12_ENST00000402676.2_Missense_Mutation_p.P1215S|AKAP12_ENST00000354675.6_Missense_Mutation_p.P1117S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1215					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGGCAGTTCCTGCACAGAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)												0													59	59	59					6																	151673169		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3643C>T	6.37:g.151673169C>T	ENSP00000253332:p.Pro1215Ser		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.P1215S	ENST00000253332.1	37	c.3643	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626166	0.28978	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.16;3.16	4.75	0.492	0.16872	.	0.696787	0.11904	N	0.518290	T	0.01592	0.0051	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25235	0.093;0.093;0.121	B;B;B	0.27170	0.077;0.077;0.035	T	0.47420	-0.9119	10	0.36615	T	0.2	.	1.8781	0.03222	0.3384:0.3795:0.119:0.1632	.	1110;1117;1215	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	S	1215;1215;1117;1110	ENSP00000384537:P1215S;ENSP00000253332:P1215S;ENSP00000346702:P1117S;ENSP00000352794:P1110S	ENSP00000253332:P1215S	P	+	1	0	AKAP12	151714862	0.000000	0.05858	0.114000	0.21550	0.352000	0.29268	0.152000	0.16302	0.150000	0.19136	0.455000	0.32223	CCT	AKAP12	-	NULL		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151673169	1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.004	T	T	151673169	C	T	151673169	3	4	117	1	0	0	0	0	1	0	0	0	448	855	30	1	3682	1	AKAP12	6	151673169	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1689930	151673169	19441898	479	17947										
SYNE1	23345	genome.wustl.edu	37	chr6	152737793	152737793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctttggaaagaatgccatCcagactgacggcagcagatt	12	9	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:152737793C>T	ENST00000367255.5	-	41	6380	c.5779G>A	c.(5779-5781)Gat>Aat	p.D1927N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D1934N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1964N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1927N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1934N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1927					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAATGCCATCCAGACTGACG	0.453										HNSCC(10;0.0054)																																							0													106	102	104					6																	152737793		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5779G>A	6.37:g.152737793C>T	ENSP00000356224:p.Asp1927Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1927N	ENST00000367255.5	37	c.5779	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152580	0.57259	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000003	T	0.54679	0.1873	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.91635	0.999;0.94;0.94;0.935	T	0.35549	-0.9784	10	0.24483	T	0.36	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1910;1927;1927;1934	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	1927;1934;1927;1934;1964	ENSP00000356224:D1927N;ENSP00000396024:D1934N;ENSP00000265368:D1927N;ENSP00000390975:D1934N;ENSP00000341887:D1964N	ENSP00000265368:D1927N	D	-	1	0	SYNE1	152779486	1.000000	0.71417	0.117000	0.21633	0.177000	0.22998	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152737793	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152737793	C	T	152737793	3	4	117	1	0	0	0	0	1	0	0	0	15475	855	30	1	21111	1	SYNE1	6	152737793	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1064624	152737793	18377274	480	17948										
SYNE1	23345	genome.wustl.edu	37	chr6	152738138	152738138	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccctttttgctctctacttCtgctgcgtggtcctggaagg	11	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:152738138C>T	ENST00000367255.5	-	41	6035	c.5434G>A	c.(5434-5436)Gaa>Aaa	p.E1812K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1819K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1849K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1812K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1819K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1812					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCTACTTCTGCTGCGTGG	0.488										HNSCC(10;0.0054)																																							0													91	91	91					6																	152738138		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5434G>A	6.37:g.152738138C>T	ENSP00000356224:p.Glu1812Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1812K	ENST00000367255.5	37	c.5434	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945289	0.34283	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	6.16	5.29	0.74685	.	0.087235	0.49305	D	0.000151	T	0.32496	0.0831	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.30605	0.191;0.287;0.287;0.241	B;B;B;B	0.31442	0.09;0.048;0.048;0.13	T	0.16571	-1.0398	10	0.27082	T	0.32	.	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	1795;1812;1812;1819	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	1812;1819;1812;1819;1849	ENSP00000356224:E1812K;ENSP00000396024:E1819K;ENSP00000265368:E1812K;ENSP00000390975:E1819K;ENSP00000341887:E1849K	ENSP00000265368:E1812K	E	-	1	0	SYNE1	152779831	0.997000	0.39634	0.245000	0.24217	0.455000	0.32408	3.336000	0.52113	1.600000	0.50102	0.650000	0.86243	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152738138	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.997	T	T	152738138	C	T	152738138	3	4	117	1	0	0	0	0	1	0	0	0	15475	922	32	1	21456	1	SYNE1	6	152738138	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	345	152738138	18376929	481	17949										
OPRM1	4988	genome.wustl.edu	37	chr6	154412492	154412492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaacttcaaacgatgcttcaGagagttctgtatcccaacct	6	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:154412492G>T	ENST00000330432.7	+	3	1286	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	OPRM1_ENST00000360422.4_Missense_Mutation_p.R350I|OPRM1_ENST00000522236.1_Missense_Mutation_p.R250I|OPRM1_ENST00000434900.2_Missense_Mutation_p.R443I|OPRM1_ENST00000414028.2_Missense_Mutation_p.R350I|OPRM1_ENST00000337049.4_Missense_Mutation_p.R350I|OPRM1_ENST00000520708.1_Missense_Mutation_p.R250I|OPRM1_ENST00000522555.1_Missense_Mutation_p.R250I|OPRM1_ENST00000229768.5_Missense_Mutation_p.R350I|OPRM1_ENST00000428397.2_Missense_Mutation_p.R350I|OPRM1_ENST00000419506.2_Missense_Mutation_p.R350I|OPRM1_ENST00000435918.2_Missense_Mutation_p.R350I|OPRM1_ENST00000518759.1_Missense_Mutation_p.R269I|OPRM1_ENST00000524163.1_Missense_Mutation_p.R350I|OPRM1_ENST00000452687.2_Missense_Mutation_p.R350I	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	350					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGATGCTTCAGAGAGTTCTGT	0.458																																																	0													93	91	92					6																	154412492		1947	4138	6085	SO:0001583	missense	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1049G>T	6.37:g.154412492G>T	ENSP00000328264:p.Arg350Ile		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.R443I	ENST00000330432.7	37	c.1328	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935802	0.92458	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.70595	2.14	0.80722	D	1	P;P;P;D;D;P;P;P;D;D;D;P	0.59357	0.953;0.909;0.796;0.976;0.985;0.868;0.559;0.953;0.984;0.977;0.985;0.796	P;P;P;P;D;P;P;D;P;P;D;P	0.70016	0.831;0.897;0.897;0.89;0.967;0.757;0.474;0.935;0.86;0.867;0.935;0.897	T	0.61118	-0.7127	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	350;350;350;350;443;269;250;350;350;350;350;350	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	I	443;250;269;350;350;350;350;350;350;350;350;350;350;250;250	ENSP00000394624:R443I;ENSP00000430876:R250I;ENSP00000430260:R269I;ENSP00000328264:R350I;ENSP00000353598:R350I;ENSP00000411903:R350I;ENSP00000410497:R350I;ENSP00000229768:R350I;ENSP00000403549:R350I;ENSP00000430097:R350I;ENSP00000399359:R350I;ENSP00000413752:R350I;ENSP00000338381:R350I;ENSP00000429719:R250I;ENSP00000429373:R250I	ENSP00000229768:R350I	R	+	2	0	OPRM1	154454185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.937000	0.99478	0.650000	0.86243	AGA	OPRM1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt		0.458	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154412492	1	no_errors	ENST00000434900	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154412492	G	T	154412492	3	4	117	1	0	0	0	0	1	0	0	0	10911	942	33	3	1393	3	OPRM1	6	154412492	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1674354	154412492	16702575	482	17950										
EZR	7430	genome.wustl.edu	37	chr6	159191802	159191802	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagggcgcctgacctctctCtgccttctttgtcttctcct	7	17	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:159191802C>T	ENST00000367075.3	-	10	1252	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	EZR_ENST00000392177.4_Missense_Mutation_p.E330K|EZR_ENST00000337147.7_Missense_Mutation_p.E362K	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	362	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGACCTCTCTCTGCCTTCTTT	0.567			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													184	173	177					6																	159191802		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1084G>A	6.37:g.159191802C>T	ENSP00000356042:p.Glu362Lys		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.E362K	ENST00000367075.3	37	c.1084	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953656	0.73902	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.81908	-1.55;-1.55;-1.55	5.43	5.43	0.79202	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.68317	2.08	0.48288	D	0.999621	B;B	0.28258	0.008;0.205	B;B	0.36092	0.013;0.217	T	0.79492	-0.1781	10	0.46703	T	0.11	.	19.2581	0.93955	0.0:1.0:0.0:0.0	.	330;362	E7EQR4;P15311	.;EZRI_HUMAN	K	362;362;330	ENSP00000338934:E362K;ENSP00000356042:E362K;ENSP00000376016:E330K	ENSP00000338934:E362K	E	-	1	0	EZR	159111790	0.963000	0.33076	0.004000	0.12327	0.293000	0.27360	2.231000	0.43009	2.547000	0.85894	0.655000	0.94253	GAG	EZR	-	pirsf_ERM,pfam_ERM_C		0.567	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159191802	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	0.001	T	T	159191802	C	T	159191802	3	4	117	1	0	0	0	0	1	0	0	0	5347	922	32	1	696	1	EZR	6	159191802	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4779310	159191802	11923265	483	17951										
IGF2R	3482	genome.wustl.edu	37	chr6	160466886	160466886	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtctaagacagaaggggaGaactgcacggtctttgactc	12	9	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:160466886G>C	ENST00000356956.1	+	14	2023	c.1875G>C	c.(1873-1875)gaG>gaC	p.E625D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	625					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CAGAAGGGGAGAACTGCACGG	0.493																																																	0													128	136	134					6																	160466886		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1875G>C	6.37:g.160466886G>C	ENSP00000349437:p.Glu625Asp		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.E625D	ENST00000356956.1	37	c.1875	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894280	0.02491	.	.	ENSG00000197081	ENST00000356956	T	0.02216	4.39	5.67	-11.3	0.00108	Mannose-6-phosphate receptor, binding (1);	0.249108	0.45361	N	0.000366	T	0.00178	0.0005	N	0.02674	-0.535	0.35954	D	0.834101	B	0.06786	0.001	B	0.12156	0.007	T	0.49000	-0.8984	10	0.02654	T	1	-6.9786	4.1259	0.10126	0.3346:0.3389:0.2395:0.087	.	625	P11717	MPRI_HUMAN	D	625	ENSP00000349437:E625D	ENSP00000349437:E625D	E	+	3	2	IGF2R	160386876	0.140000	0.22579	0.918000	0.36340	0.720000	0.41350	-0.418000	0.07080	-2.048000	0.00907	-1.092000	0.02172	GAG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	G	NM_000876		160466886	1	no_errors	ENST00000356956	ensembl	human	known	70_37	missense	SNP	0.667	C	C	160466886	G	C	160466886	3	2	117	1	0	0	0	0	1	0	0	0	7596	933	33	1	1929	1	IGF2R	6	160466886	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1275084	160466886	10648181	484	17952										
PDE10A	10846	genome.wustl.edu	37	chr6	165746607	165746607	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcaccttctcccactgactGagattatccctagggataaa	6	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:165746607G>A	ENST00000366882.1	-	23	2401	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	PDE10A_ENST00000539869.2_Silent_p.L759L|PDE10A_ENST00000354448.4_Silent_p.L749L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	749					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCCACTGACTGAGATTATCCC	0.483																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													111	101	104					6																	165746607		2203	4300	6503	SO:0001819	synonymous_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2247C>T	6.37:g.165746607G>A			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L759	ENST00000366882.1	37	c.2277		6																																																																																			PDE10A	-	NULL		0.483	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	G			165746607	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	silent	SNP	0.996	A	A	165746607	G	A	165746607	2	1	117	1	0	0	0	0	0	0	0	1	11654	1277	45	1		1	PDE10A	6	165746607	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5279721	165746607	5368460	485	17953										
GPR31	2853	genome.wustl.edu	37	chr6	167570453	167570453	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accctccgataggagctcctGaaggtggggctggagaagca	15	10	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:167570453G>A	ENST00000366834.1	-	1	1364	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	289					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGAGCTCCTGAAGGTGGGGC	0.592																																																	0													64	65	65					6																	167570453		2203	4300	6503	SO:0001819	synonymous_variant	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.867C>T	6.37:g.167570453G>A			B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F289	ENST00000366834.1	37	c.867	CCDS5299.1	6																																																																																			GPR31	-	prints_GPCR_Rhodpsn		0.592	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	HGNC	protein_coding	OTTHUMT00000043111.1	G	NM_005299		167570453	-1	no_errors	ENST00000366834	ensembl	human	known	70_37	silent	SNP	0.211	A	A	167570453	G	A	167570453	2	1	117	1	0	0	0	0	0	0	0	1	6706	1281	45	1		1	GPR31	6	167570453	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1823846	167570453	3544614	486	17954										
WDR27	253769	genome.wustl.edu	37	chr6	170033055	170033055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttactcactttattttggcaGatttgatggacaggccgtga	10	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:170033055G>C	ENST00000448612.1	-	21	2320	c.2211C>G	c.(2209-2211)atC>atG	p.I737M	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.I737M|WDR27_ENST00000423258.1_Missense_Mutation_p.I610M	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	707						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TATTTTGGCAGATTTGATGGA	0.448																																																	0													80	81	81					6																	170033055		1919	4123	6042	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2211C>G	6.37:g.170033055G>C	ENSP00000416289:p.Ile737Met		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I737M	ENST00000448612.1	37	c.2211	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113148	0.37339	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.42900	4.81;0.96;4.81	5.04	-5.3	0.02738	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.85373	2.75	0.80722	D	1	B;B;P	0.41848	0.361;0.383;0.763	B;B;B	0.40444	0.072;0.151;0.329	T	0.52495	-0.8568	10	0.87932	D	0	-25.1801	14.2354	0.65922	0.5806:0.0:0.4194:0.0	.	737;610;737	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	M	737;737;610	ENSP00000416289:I737M;ENSP00000330265:I737M;ENSP00000397869:I610M	ENSP00000330265:I737M	I	-	3	3	WDR27	169774980	0.880000	0.30214	0.631000	0.29282	0.990000	0.78478	-0.476000	0.06591	-1.296000	0.02353	-0.142000	0.14014	ATC	WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.448	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	G	NM_182552		170033055	-1	no_errors	ENST00000448612	ensembl	human	known	70_37	missense	SNP	0.832	C	C	170033055	G	C	170033055	3	2	117	1	0	0	0	0	1	0	0	0	17315	932	33	1	382	1	WDR27	6	170033055	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2462602	170033055	1082012	487	17955										
C6orf70	55780	genome.wustl.edu	37	chr6	170179281	170179281	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttttatctgtttttagtatCagactactgtcccctgtgct	6	10	2	1	rs374321406		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:170179281C>G	ENST00000366773.3	+	17	1776	c.1743C>G	c.(1741-1743)atC>atG	p.I581M	ERMARD_ENST00000588451.1_Missense_Mutation_p.I445M|ERMARD_ENST00000366772.2_Missense_Mutation_p.I534M|ERMARD_ENST00000392095.4_Missense_Mutation_p.I455M|ERMARD_ENST00000418781.3_Missense_Mutation_p.I508M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	581					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTTTTAGTATCAGACTACTGT	0.393																																																	0													169	152	158					6																	170179281		2203	4300	6503	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1743C>G	6.37:g.170179281C>G	ENSP00000355735:p.Ile581Met		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.I581M	ENST00000366773.3	37	c.1743	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	C	4.687	0.127729	0.08981	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.52983	0.64;0.64	5.52	-10.9	0.00192	.	0.782790	0.11483	N	0.559545	T	0.11495	0.0280	L	0.43152	1.355	0.09310	N	1	B;B;P	0.37441	0.225;0.225;0.595	B;B;B	0.31016	0.07;0.07;0.123	T	0.00964	-1.1498	10	0.52906	T	0.07	.	8.145	0.31106	0.0:0.3095:0.3736:0.3169	.	534;508;581	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	M	581;534;508;455;229	ENSP00000355735:I581M;ENSP00000375945:I455M	ENSP00000355733:I229M	I	+	3	3	C6orf70	169921206	0.097000	0.21791	0.000000	0.03702	0.002000	0.02628	-0.924000	0.03996	-2.448000	0.00545	-0.812000	0.03155	ATC	C6orf70	-	NULL		0.393	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	C	NM_018341		170179281	1	no_errors	ENST00000366773	ensembl	human	known	70_37	missense	SNP	0.000	G	G	170179281	C	G	170179281	3	3	117	1	0	0	0	0	1	0	0	0	2375	816	29	1	1809	1	C6orf70	6	170179281	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	146226	170179281	935786	488	17956										
PSMG3	84262	genome.wustl.edu	37	chr7	1607367	1607367	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacacccggatcacctccctCagcgccttcagcccctccat	5	22	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:1607367C>G	ENST00000288607.2	-	2	989	c.336G>C	c.(334-336)ctG>ctC	p.L112L	PSMG3_ENST00000252329.3_Silent_p.L112L|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000404674.3_Silent_p.L112L	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	112										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TCACCTCCCTCAGCGCCTTCA	0.617																																																	0													90	72	78					7																	1607367		2203	4300	6503	SO:0001819	synonymous_variant	84262			BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 48"	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.336G>C	7.37:g.1607367C>G			A4D216|A8MPW2	Silent	SNP	pfam_Proteasome_assmbl_chp_3	p.L112	ENST00000288607.2	37	c.336	CCDS5327.1	7																																																																																			PSMG3	-	pfam_Proteasome_assmbl_chp_3		0.617	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PSMG3	HGNC	protein_coding	OTTHUMT00000239254.2	C	NM_032302		1607367	-1	no_errors	ENST00000252329	ensembl	human	known	70_37	silent	SNP	0.947	G	G	1607367	C	G	1607367	2	3	117	1	0	0	0	0	0	0	0	1	12740	813	29	1		1	PSMG3	7	1607367	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		1607367	157531296	489	17957										
EIF2AK1	27102	genome.wustl.edu	37	chr7	6068648	6068648	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgctgatcagggccatgaaGaaaaatatttcttggctatc	9	7	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6068648G>A	ENST00000199389.6	-	12	1494	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.L326F|ANKRD61_ENST00000409061.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGGCCATGAAGAAAAATATTT	0.378																																																	0													71	69	70					7																	6068648		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1348C>T	7.37:g.6068648G>A	ENSP00000199389:p.Leu450Phe		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	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.L450F	ENST00000199389.6	37	c.1348	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123392	0.56613	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.70399	-0.48;-0.48	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.77089	0.4079	L	0.59967	1.855	0.54753	D	0.999987	D;D;P	0.76494	0.998;0.999;0.929	D;D;P	0.70935	0.971;0.956;0.719	T	0.72944	-0.4138	10	0.19147	T	0.46	-15.8865	9.7769	0.40626	0.16:0.0:0.84:0.0	.	326;449;450	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	F	450;326;77	ENSP00000199389:L450F;ENSP00000445784:L326F	ENSP00000199389:L450F	L	-	1	0	EIF2AK1	6035174	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.242000	0.65389	2.213000	0.71641	0.555000	0.69702	CTT	EIF2AK1	-	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		0.378	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	G	NM_014413		6068648	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6068648	G	A	6068648	3	1	117	1	0	0	0	0	1	0	0	0	5006	942	33	1	560	1	EIF2AK1	7	6068648	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4461281	6068648	153070015	490	17958										
CYTH3	9265	genome.wustl.edu	37	chr7	6204918	6204918	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actcacttgatggatttcatCcactcctccttctcctccgg	5	16	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6204918C>T	ENST00000350796.3	-	12	1249	c.1113G>A	c.(1111-1113)tgG>tgA	p.W371*	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Nonsense_Mutation_p.W286*	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	372	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGGATTTCATCCACTCCTCCT	0.642																																																	0													37	39	38					7																	6204918		2203	4300	6503	SO:0001587	stop_gained	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1113G>A	7.37:g.6204918C>T	ENSP00000297044:p.Trp371*		A4D2N8	Nonsense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.W371*	ENST00000350796.3	37	c.1113	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.622305	0.97714	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2844	0.90110	0.0:1.0:0.0:0.0	.	.	.	.	X	371;286	.	ENSP00000297044:W371X	W	-	3	0	CYTH3	6171443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.672000	0.83956	2.407000	0.81776	0.561000	0.74099	TGG	CYTH3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	C	NM_004227		6204918	-1	no_errors	ENST00000350796	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	6204918	C	T	6204918	4	4	117	1	0	0	0	0	0	1	0	0	4210	856	30	1	94	1	CYTH3	7	6204918	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	136270	6204918	152933745	491	17959										
CYTH3	9265	genome.wustl.edu	37	chr7	6204977	6204977	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtacaccacatggttcccctCtaccacgcggccgtcggcct	9	18	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6204977C>T	ENST00000350796.3	-	12	1190	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Missense_Mutation_p.E267K	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	353	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGGTTCCCCTCTACCACGCGG	0.597																																																	0													49	48	48					7																	6204977		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1054G>A	7.37:g.6204977C>T	ENSP00000297044:p.Glu352Lys		A4D2N8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E352K	ENST00000350796.3	37	c.1054	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018198	0.93404	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.16743	2.32;2.32	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.75264	2.295	0.80722	D	1	B;P	0.39964	0.405;0.697	B;B	0.41666	0.346;0.363	T	0.08472	-1.0720	10	0.72032	D	0.01	.	18.7418	0.91775	0.0:1.0:0.0:0.0	.	267;352	B7Z2V9;O43739-2	.;.	K	352;267	ENSP00000297044:E352K;ENSP00000379967:E267K	ENSP00000297044:E352K	E	-	1	0	CYTH3	6171502	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.686000	0.84128	2.518000	0.84900	0.561000	0.74099	GAG	CYTH3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	C	NM_004227		6204977	-1	no_errors	ENST00000350796	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6204977	C	T	6204977	3	4	117	1	0	0	0	0	1	0	0	0	4210	922	32	1	153	1	CYTH3	7	6204977	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	59	6204977	152933686	492	17960										
DAGLB	221955	genome.wustl.edu	37	chr7	6487442	6487442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtcgtcgctggcgatggccCagcgccggccgaagagtacc	15	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6487442C>T	ENST00000297056.6	-	1	201	c.32G>A	c.(31-33)tGg>tAg	p.W11*	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000421761.2_5'UTR|DAGLB_ENST00000428902.2_5'UTR|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000425398.2_Nonsense_Mutation_p.W11*	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	11					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCGATGGCCCAGCGCCGGCC	0.677																																																	0													31	33	32					7																	6487442		2202	4300	6502	SO:0001587	stop_gained	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.32G>A	7.37:g.6487442C>T	ENSP00000297056:p.Trp11*		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Nonsense_Mutation	SNP	pfam_Lipase_3	p.W11*	ENST00000297056.6	37	c.32	CCDS5350.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.645431	0.98409	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000471132;ENST00000432248	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5108	0.90916	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000297056:W11X	W	-	2	0	DAGLB	6453967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.424000	0.73366	2.483000	0.83821	0.555000	0.69702	TGG	DAGLB	-	NULL		0.677	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2	C	NM_139179		6487442	-1	no_errors	ENST00000297056	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	6487442	C	T	6487442	4	4	117	1	0	0	0	0	0	1	0	0	4232	595	21	4	2046	4	DAGLB	7	6487442	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	282465	6487442	152651221	493	17961										
C7orf28B	221960	genome.wustl.edu	37	chr7	6859533	6859533	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgattccaccaaaaatgtCaagtaggtcacatgactgca	8	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6859533C>A	ENST00000316731.8	-	7	1134	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	CCZ1B_ENST00000538180.1_Missense_Mutation_p.D45Y	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	188						lysosome (GO:0005764)|membrane (GO:0016020)											CCAAAAATGTCAAGTAGGTCA	0.333																																																	0													52	51	52					7																	6859533		2179	4288	6467	SO:0001583	missense	221960			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"similar to CGI-43 protein"		"chromosome 7 open reading frame 28B"	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.562G>T	7.37:g.6859533C>A	ENSP00000314544:p.Asp188Tyr		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.D188Y	ENST00000316731.8	37	c.562	CCDS5354.1	7	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021744	0.54576	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.72	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69150	-0.5221	6	0.59425	D	0.04	-24.884	11.2352	0.48936	0.0:1.0:0.0:0.0	.	.	.	.	Y	188;45	.	ENSP00000314544:D188Y	D	-	1	0	C7orf28B	6826058	1.000000	0.71417	0.976000	0.42696	0.705000	0.40729	7.251000	0.78297	1.521000	0.48983	0.194000	0.17425	GAC	CCZ1B	-	pfam_DUF1712_fun		0.333	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	C	NM_198097		6859533	-1	no_errors	ENST00000316731	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6859533	C	A	6859533	3	1	117	1	0	0	0	0	1	0	0	0	2389	826	29	3	922	3	C7orf28B	7	6859533	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	372091	6859533	152279130	494	17962										
THSD7A	221981	genome.wustl.edu	37	chr7	11521436	11521436	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcttcacccgcataggccaGaatggatcgtgctcgtatct	9	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:11521436G>C	ENST00000423059.4	-	7	2247	c.1996C>G	c.(1996-1998)Ctg>Gtg	p.L666V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	666	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCATAGGCCAGAATGGATCGT	0.498										HNSCC(18;0.044)																																							0													126	123	124					7																	11521436		2145	4251	6396	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1996C>G	7.37:g.11521436G>C	ENSP00000406482:p.Leu666Val			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L666V	ENST00000423059.4	37	c.1996	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767975	0.69878	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.50813	0.73	6.17	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	L	0.54863	1.705	0.53688	D	0.999973	D	0.65815	0.995	D	0.67382	0.951	T	0.49908	-0.8889	10	0.16420	T	0.52	.	10.9439	0.47289	0.2679:0.0:0.7321:0.0	.	666	Q9UPZ6	THS7A_HUMAN	V	666	ENSP00000406482:L666V	ENSP00000262042:L666V	L	-	1	2	THSD7A	11487961	0.998000	0.40836	0.991000	0.47740	0.931000	0.56810	1.949000	0.40313	0.375000	0.24679	-0.137000	0.14449	CTG	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.498	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11521436	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11521436	G	C	11521436	3	2	117	1	0	0	0	0	1	0	0	0	15909	933	33	1	3061	1	THSD7A	7	11521436	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4661903	11521436	147617227	495	17963										
BZW2	28969	genome.wustl.edu	37	chr7	16736606	16736606	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaacagcagtgattggtcttCtgtggacatgtataatgaac	10	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:16736606C>T	ENST00000433922.2	+	9	1067	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000407633.1_Silent_p.L103L|BZW2_ENST00000258761.3_Silent_p.L297L|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Silent_p.L221L	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	297	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GATTGGTCTTCTGTGGACATG	0.433																																																	0													149	138	142					7																	16736606		2203	4300	6503	SO:0001819	synonymous_variant	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.889C>T	7.37:g.16736606C>T			A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.L297	ENST00000433922.2	37	c.889	CCDS5362.1	7																																																																																			BZW2	-	superfamily_ARM-type_fold		0.433	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	C	NM_014038		16736606	1	no_errors	ENST00000258761	ensembl	human	known	70_37	silent	SNP	1.000	T	T	16736606	C	T	16736606	2	4	117	1	0	0	0	0	0	0	0	1	1582	912	32	1		1	BZW2	7	16736606	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5215170	16736606	142402057	496	17964										
BZW2	28969	genome.wustl.edu	37	chr7	16737784	16737784	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccatttcatgaaagcctttCagaagattgtggttctcttt	7	8	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:16737784C>T	ENST00000433922.2	+	10	1259	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000407633.1_Nonsense_Mutation_p.Q167*|BZW2_ENST00000258761.3_Nonsense_Mutation_p.Q361*|BZW2_ENST00000405202.1_Nonsense_Mutation_p.Q285*	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	361	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GAAAGCCTTTCAGAAGATTGT	0.493																																																	0													160	155	157					7																	16737784		2203	4300	6503	SO:0001587	stop_gained	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1081C>T	7.37:g.16737784C>T	ENSP00000397249:p.Gln361*		A4D123|Q3B779|Q96JW5|Q9H3F7	Nonsense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.Q361*	ENST00000433922.2	37	c.1081	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.871691	0.97901	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	.	.	.	6.17	6.17	0.99709	.	0.259482	0.33610	N	0.004726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-16.5888	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	361;361;361;285;167	.	ENSP00000258761:Q361X	Q	+	1	0	BZW2	16704309	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.851000	0.69481	2.941000	0.99782	0.655000	0.94253	CAG	BZW2	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain		0.493	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	C	NM_014038		16737784	1	no_errors	ENST00000258761	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	16737784	C	T	16737784	4	4	117	1	0	0	0	0	0	1	0	0	1582	827	29	1	1115	1	BZW2	7	16737784	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1178	16737784	142400879	497	17965										
DNAH11	8701	genome.wustl.edu	37	chr7	21604003	21604003	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgcaagagttttgtaatctCttcattaaccaggtatgaag	8	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:21604003C>G	ENST00000409508.3	+	6	1213	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	DNAH11_ENST00000328843.6_Silent_p.L394L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	394	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGTAATCTCTTCATTAACC	0.363									Kartagener syndrome																																								0													61	55	57					7																	21604003		1813	4074	5887	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1182C>G	7.37:g.21604003C>G			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L394	ENST00000409508.3	37	c.1182		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-1		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	C	NM_003777		21604003	1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	G	G	21604003	C	G	21604003	2	3	117	1	0	0	0	0	0	0	0	1	4609	900	32	1		1	DNAH11	7	21604003	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4866219	21604003	137534660	498	17966										
CRHR2	1395	genome.wustl.edu	37	chr7	30721797	30721797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctcgcctcccgcctaccctCggggtccaggggtggccccc	13	20	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:30721797C>T	ENST00000471646.1	-	1	517	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34K	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	34					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCCTACCCTCGGGGTCCAGG	0.741																																																	0													7	9	9					7																	30721797		2165	4247	6412	SO:0001583	missense	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.100G>A	7.37:g.30721797C>T	ENSP00000418722:p.Glu34Lys		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.E34K	ENST00000471646.1	37	c.100	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701411	0.48307	.	.	ENSG00000106113	ENST00000471646;ENST00000506074	T;T	0.55234	0.53;0.53	4.45	1.3	0.21679	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.27933	0.0688	N	0.08118	0	0.21386	N	0.9997	B;B;B	0.24920	0.114;0.114;0.114	B;B;B	0.11329	0.004;0.006;0.004	T	0.12477	-1.0546	9	0.10902	T	0.67	.	11.7851	0.52037	0.0:0.4623:0.5377:0.0	.	34;34;34	B3SXT0;B3SXS6;Q13324	.;.;CRFR2_HUMAN	K	34	ENSP00000418722:E34K;ENSP00000426498:E34K	ENSP00000418722:E34K	E	-	1	0	CRHR2	30688322	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	0.872000	0.28037	0.571000	0.29365	0.563000	0.77884	GAG	CRHR2	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF2_rcpt		0.741	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	HGNC	protein_coding	OTTHUMT00000250448.3	C			30721797	-1	no_errors	ENST00000471646	ensembl	human	known	70_37	missense	SNP	0.984	T	T	30721797	C	T	30721797	3	4	117	1	0	0	0	0	1	0	0	0	3877	893	31	1	1183	1	CRHR2	7	30721797	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9117794	30721797	128416866	499	17967										
BBS9	27241	genome.wustl.edu	37	chr7	33312684	33312684	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatgtattgtctctttcaatCagtcggcatcctctgttttt	6	9	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:33312684C>T	ENST00000242067.6	+	8	1284	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	BBS9_ENST00000350941.3_Nonsense_Mutation_p.Q255*|BBS9_ENST00000425508.2_Nonsense_Mutation_p.Q210*|BBS9_ENST00000355070.2_Nonsense_Mutation_p.Q255*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.Q255*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.Q255*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	255					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CTCTTTCAATCAGTCGGCATC	0.383									Bardet-Biedl syndrome																																								0													218	211	214					7																	33312684		2203	4300	6503	SO:0001587	stop_gained	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.763C>T	7.37:g.33312684C>T	ENSP00000242067:p.Gln255*		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	NULL	p.Q255*	ENST00000242067.6	37	c.763	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.516960	0.98845	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	.	.	.	5.81	5.81	0.92471	.	0.056507	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-5.473	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	255;255;255;255;255;255;255;210;133;133	.	ENSP00000242067:Q255X	Q	+	1	0	BBS9	33279209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.746000	0.94184	0.655000	0.94253	CAG	BBS9	-	NULL		0.383	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	C			33312684	1	no_errors	ENST00000242067	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	33312684	C	T	33312684	4	4	117	1	0	0	0	0	0	1	0	0	1343	827	29	1	789	1	BBS9	7	33312684	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2590887	33312684	125825979	500	17968										
HERPUD2	64224	genome.wustl.edu	37	chr7	35674821	35674821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagtatacaatgctaaggaGaatcgcagctcgtgagaacg	12	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:35674821G>A	ENST00000396081.1	-	6	1669	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.L289F	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	289					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ATGCTAAGGAGAATCGCAGCT	0.398																																																	0													175	155	162					7																	35674821		2203	4300	6503	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.865C>T	7.37:g.35674821G>A	ENSP00000379390:p.Leu289Phe		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L289F	ENST00000396081.1	37	c.865	CCDS5446.1	7	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569623	0.45798	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.20463	2.07;2.07	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	N	0.17723	0.515	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.02444	-1.1158	10	0.08599	T	0.76	-18.5318	20.422	0.99049	0.0:0.0:1.0:0.0	.	289	Q9BSE4	HERP2_HUMAN	F	289	ENSP00000379390:L289F;ENSP00000310729:L289F	ENSP00000310729:L289F	L	-	1	0	HERPUD2	35641346	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.706000	0.68362	2.832000	0.97577	0.655000	0.94253	CTC	HERPUD2	-	NULL		0.398	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	G	NM_022373		35674821	-1	no_errors	ENST00000311350	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35674821	G	A	35674821	3	1	117	1	0	0	0	0	1	0	0	0	7084	942	33	1	367	1	HERPUD2	7	35674821	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2362137	35674821	123463842	501	17969										
ELMO1	9844	genome.wustl.edu	37	chr7	37262231	37262231	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcaacttacctgcctcctctCatcaggagccttcaggaaaa	7	14	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:37262231C>G	ENST00000310758.4	-	10	1416	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.E257Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.E257Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	257					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGCCTCCTCTCATCAGGAGCC	0.423																																																	0													138	128	132					7																	37262231		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.769G>C	7.37:g.37262231C>G	ENSP00000312185:p.Glu257Gln		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E257Q	ENST00000310758.4	37	c.769	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.16|10.16	1.272854|1.272854	0.23221|0.23221	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	T;T;T|.	0.50548|.	0.74;0.74;0.74|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.174405|.	0.49916|.	D|.	0.000133|.	T|T	0.52645|0.52645	0.1747|0.1747	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.14023|.	0.01|.	T|T	0.44682|0.44682	-0.9312|-0.9312	10|5	0.23302|.	T|.	0.38|.	.|.	20.1454|20.1454	0.98074|0.98074	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	257|.	Q92556|.	ELMO1_HUMAN|.	Q|I	257;161;257;257|21	ENSP00000312185:E257Q;ENSP00000406952:E257Q;ENSP00000394458:E257Q|.	ENSP00000312185:E257Q|.	E|M	-|-	1|3	0|0	ELMO1|ELMO1	37228756|37228756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.287000|0.287000	0.27160|0.27160	7.605000|7.605000	0.82844|0.82844	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|ATG	ELMO1	-	pfam_DUF3361,superfamily_ARM-type_fold		0.423	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		37262231	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37262231	C	G	37262231	3	3	117	1	0	0	0	0	1	0	0	0	5077	835	29	1	1466	1	ELMO1	7	37262231	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1587410	37262231	121876432	502	17970										
AMPH	273	genome.wustl.edu	37	chr7	38431444	38431444	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtgcagaaggcgtgggctGagggtcctggataggcttct	18	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:38431444G>A	ENST00000356264.2	-	19	1998	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Nonsense_Mutation_p.Q553*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.Q553*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	595					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCGTGGGCTGAGGGTCCTGG	0.632																																																	0													54	50	51					7																	38431444		2203	4300	6503	SO:0001587	stop_gained	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1783C>T	7.37:g.38431444G>A	ENSP00000348602:p.Gln595*		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.Q595*	ENST00000356264.2	37	c.1783	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.655965|6.655965	0.97739|0.97739	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	.|.	.|.	.|.	5.32|5.32	4.42|4.42	0.53409|0.53409	.|.	0.961864|.	0.08664|.	N|.	0.911934|.	.|T	.|0.70753	.|0.3260	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74680	.|-0.3584	.|3	0.10377|.	T|.	0.69|.	-3.1787|-3.1787	15.8462|15.8462	0.78895|0.78895	0.0:0.1362:0.8638:0.0|0.0:0.1362:0.8638:0.0	.|.	.|.	.|.	.|.	X|L	553;595;553;497|477	.|.	ENSP00000317441:Q553X|.	Q|S	-|-	1|2	0|0	AMPH|AMPH	38397969|38397969	0.999000|0.999000	0.42202|0.42202	0.055000|0.055000	0.19348|0.19348	0.080000|0.080000	0.17528|0.17528	3.026000|3.026000	0.49689|0.49689	1.208000|1.208000	0.43306|0.43306	0.591000|0.591000	0.81541|0.81541	CAG|TCA	AMPH	-	NULL		0.632	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	G	NM_001635		38431444	-1	no_errors	ENST00000356264	ensembl	human	known	70_37	nonsense	SNP	0.756	A	A	38431444	G	A	38431444	4	1	117	1	0	0	0	0	0	1	0	0	588	1299	45	1	316	1	AMPH	7	38431444	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1169213	38431444	120707219	503	17971										
AMPH	273	genome.wustl.edu	37	chr7	38500909	38500909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggtgttgtcacactgatttCtggaacaaagttgtcctcaa	9	8	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:38500909C>G	ENST00000356264.2	-	11	1206	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	AMPH_ENST00000428293.2_Missense_Mutation_p.E331Q|AMPH_ENST00000325590.5_Missense_Mutation_p.E331Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	331					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACACTGATTTCTGGAACAAAG	0.507																																																	0													178	174	176					7																	38500909		2203	4300	6503	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.991G>C	7.37:g.38500909C>G	ENSP00000348602:p.Glu331Gln		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.E331Q	ENST00000356264.2	37	c.991	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.718668|4.718668	0.89205|0.89205	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.66280|.	-0.1;-0.2;-0.03|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.176030|.	0.48767|.	D|.	0.000174|.	T|T	0.76695|0.76695	0.4023|0.4023	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.975;0.973;0.996|.	T|T	0.74269|0.74269	-0.3720|-0.3720	10|5	0.51188|.	T|.	0.08|.	-25.4616|-25.4616	19.9922|19.9922	0.97370|0.97370	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;331;87|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	Q|T	331;331;331;101;334|81	ENSP00000317441:E331Q;ENSP00000348602:E331Q;ENSP00000390734:E331Q|.	ENSP00000317441:E331Q|.	E|R	-|-	1|2	0|0	AMPH|AMPH	38467434|38467434	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.613000|4.613000	0.61176|0.61176	2.740000|2.740000	0.93945|0.93945	0.557000|0.557000	0.71058|0.71058	GAA|AGA	AMPH	-	NULL		0.507	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	C	NM_001635		38500909	-1	no_errors	ENST00000356264	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38500909	C	G	38500909	3	3	117	1	0	0	0	0	1	0	0	0	588	922	32	1	1140	1	AMPH	7	38500909	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	69465	38500909	120637754	504	17972										
RALA	5898	genome.wustl.edu	37	chr7	39736381	39736381	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaagacaggtttctgtagaaGaggcaaaaaacagagctgag	12	5	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:39736381G>A	ENST00000005257.2	+	4	801	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	141					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TTCTGTAGAAGAGGCAAAAAA	0.378																																																	0													97	91	93					7																	39736381		2203	4300	6503	SO:0001583	missense	5898				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"RAS-like protein A", "Ras-related protein Ral-A", "Ras family small GTP binding protein RALA", "ras related GTP binding protein A"	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.421G>A	7.37:g.39736381G>A	ENSP00000005257:p.Glu141Lys		A4D1W3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E141K	ENST00000005257.2	37	c.421	CCDS5460.1	7	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812129	0.90707	.	.	ENSG00000006451	ENST00000005257	T	0.78595	-1.19	4.84	3.96	0.45880	Small GTP-binding protein domain (1);	0.044324	0.85682	D	0.000000	D	0.83552	0.5279	M	0.82323	2.585	0.80722	D	1	P	0.45011	0.848	P	0.49887	0.625	D	0.85314	0.1080	10	0.56958	D	0.05	.	13.3498	0.60595	0.0766:0.0:0.9234:0.0	.	141	P11233	RALA_HUMAN	K	141	ENSP00000005257:E141K	ENSP00000005257:E141K	E	+	1	0	RALA	39702906	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.864000	0.99589	1.173000	0.42796	0.563000	0.77884	GAG	RALA	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	HGNC	protein_coding	OTTHUMT00000250696.2	G	NM_005402		39736381	1	no_errors	ENST00000005257	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39736381	G	A	39736381	3	1	117	1	0	0	0	0	1	0	0	0	13040	943	33	1	431	1	RALA	7	39736381	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1235472	39736381	119402282	505	17973										
EGFR	1956	genome.wustl.edu	37	chr7	55238200	55238200	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccacctccatgcctggccttCtgcatctgtgatcatcacgg	8	16	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:55238200C>G	ENST00000275493.2	+	16	2057				EGFR_ENST00000455089.1_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000344576.2_Missense_Mutation_p.S694C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCCTGGCCTTCTGCATCTGTG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													135	113	120					7																	55238200		2203	4300	6503	SO:0001627	intron_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1881-668C>G	7.37:g.55238200C>G			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat	p.S694C	ENST00000275493.2	37	c.2081	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	8.630	0.893478	0.17613	.	.	ENSG00000146648	ENST00000344576	T	0.81247	-1.47	2.98	1.16	0.20824	.	.	.	.	.	T	0.63988	0.2558	N	0.08118	0	0.09310	N	1	P	0.42620	0.785	B	0.43950	0.437	T	0.56763	-0.7925	9	0.87932	D	0	.	5.0916	0.14711	0.0:0.7156:0.0:0.2844	.	694	P00533-3	.	C	694	ENSP00000345973:S694C	ENSP00000345973:S694C	S	+	2	0	EGFR	55205694	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.121000	0.15667	0.312000	0.23038	-0.253000	0.11424	TCT	EGFR	-	NULL		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55238200	1	no_errors	ENST00000344576	ensembl	human	known	70_37	missense	SNP	0.000	G	G	55238200	C	G	55238200	1	3	117	0	1	0	0	0	0	0	0	0	4977	913	32	1		1	EGFR	7	55238200	Intron	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	15501819	55238200	103900463	506	17974										
CHCHD2	51142	genome.wustl.edu	37	chr7	56174064	56174064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgatggtctcacctggccgGaggggccatgcgggaggtgc	19	11	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:56174064G>C	ENST00000395422.3	-	1	205	c.43C>G	c.(43-45)Ccg>Gcg	p.P15A		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	15						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCTGGCCGGAGGGGCCATG	0.667																																																	0													41	47	45					7																	56174064		2203	4299	6502	SO:0001583	missense	51142			AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.43C>G	7.37:g.56174064G>C	ENSP00000378812:p.Pro15Ala		Q498C3|Q6NZ50	Missense_Mutation	SNP	pfam_CHCH	p.P15A	ENST00000395422.3	37	c.43	CCDS5526.1	7	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937457	0.73557	.	.	ENSG00000106153	ENST00000395422	T	0.45668	0.89	4.83	4.83	0.62350	.	0.377361	0.29948	N	0.010795	T	0.56217	0.1970	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43653	-0.9378	10	0.19147	T	0.46	.	17.4308	0.87539	0.0:0.0:1.0:0.0	.	15	Q9Y6H1	CHCH2_HUMAN	A	15	ENSP00000378812:P15A	ENSP00000378812:P15A	P	-	1	0	CHCHD2	56141558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.582000	0.82546	2.669000	0.90835	0.561000	0.74099	CCG	CHCHD2	-	NULL		0.667	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD2	HGNC	protein_coding	OTTHUMT00000251589.1	G	NM_016139		56174064	-1	no_errors	ENST00000395422	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56174064	G	C	56174064	3	2	117	1	0	0	0	0	1	0	0	0	3321	1174	41	1	428	1	CHCHD2	7	56174064	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	935864	56174064	102964599	507	17975										
STAG3L4	64940	genome.wustl.edu	37	chr7	66774620	66774620	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcacgaagatatcaatcagcGtcagtatgaggctgaaagaa	11	7	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:66774620G>A	ENST00000416602.2	+	0	637					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ATCAATCAGCGTCAGTATGAG	0.498																																																	0													122	133	129					7																	66774620		2203	4300	6503			64940					7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774620G>A			Q9H8W0	RNA	SNP	-	NULL	ENST00000416602.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	g	3.754	-0.050945	0.07407	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.524	-1.05	0.10036	STAG (1);	0.222747	0.32287	N	0.006314	T	0.27027	0.0662	.	.	.	.	.	.	B	0.33238	0.403	B	0.31245	0.126	T	0.10314	-1.0635	7	0.59425	D	0.04	.	5.3142	0.15847	0.2662:0.0:0.7338:0.0	.	121	Q8TBR4	STG34_HUMAN	H	121	.	ENSP00000408597:R121H	R	+	2	0	STAG3L4	66412055	1.000000	0.71417	0.582000	0.28627	0.035000	0.12851	4.574000	0.60900	-0.981000	0.03520	-1.368000	0.01194	CGT	STAG3L4	-	-		0.498	STAG3L4-001	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346611.1	G	NM_022906		66774620	1	no_errors	ENST00000416602	ensembl	human	known	70_37	rna	SNP	1.000	A	A	66774620	G	A	66774620	1	1	117	0	1	0	0	0	0	0	0	0	15277	1145	40	2		2	STAG3L4	7	66774620	RNA	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	10600556	66774620	92364043	508	17976										
AUTS2	26053	genome.wustl.edu	37	chr7	70231180	70231180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcggggcttccctgggccctCcgccctacctgcggaccgag	14	18	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:70231180C>T	ENST00000342771.4	+	9	1870	c.1549C>T	c.(1549-1551)Ccg>Tcg	p.P517S	AUTS2_ENST00000406775.2_Missense_Mutation_p.P517S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	517										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCTGGGCCCTCCGCCCTACCT	0.612																																																	0													187	184	185					7																	70231180		2203	4300	6503	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1549C>T	7.37:g.70231180C>T	ENSP00000344087:p.Pro517Ser		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.P517S	ENST00000342771.4	37	c.1549	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719118	0.68844	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.11712	2.75;2.75	5.77	5.77	0.91146	.	0.050344	0.85682	D	0.000000	T	0.25644	0.0624	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.93	T	0.00337	-1.1807	9	.	.	.	-18.5372	19.9983	0.97395	0.0:1.0:0.0:0.0	.	517;517	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	S	517	ENSP00000385263:P517S;ENSP00000344087:P517S	.	P	+	1	0	AUTS2	69869116	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.714000	0.68422	2.724000	0.93272	0.561000	0.74099	CCG	AUTS2	-	NULL		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70231180	1	no_errors	ENST00000342771	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70231180	C	T	70231180	3	4	117	1	0	0	0	0	1	0	0	0	1226	855	30	1	1728	1	AUTS2	7	70231180	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3456560	70231180	88907483	509	17977										
WBSCR17	64409	genome.wustl.edu	37	chr7	71130461	71130461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggcccacattgagcggaaGaagaagccatataatagcaa	11	8	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:71130461G>C	ENST00000333538.5	+	7	1780	c.1146G>C	c.(1144-1146)aaG>aaC	p.K382N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	382					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGAGCGGAAGAAGAAGCCAT	0.493																																																	0													112	103	106					7																	71130461		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1146G>C	7.37:g.71130461G>C	ENSP00000329654:p.Lys382Asn		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K382N	ENST00000333538.5	37	c.1146	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666255	0.29604	.	.	ENSG00000185274	ENST00000333538	T	0.59502	0.26	5.85	5.85	0.93711	.	0.162322	0.53938	D	0.000053	T	0.47710	0.1460	N	0.21508	0.67	0.41370	D	0.987481	B	0.25609	0.13	B	0.30716	0.119	T	0.46400	-0.9194	10	0.54805	T	0.06	.	14.7207	0.69302	0.0:0.1444:0.8556:0.0	.	382	Q6IS24	GLTL3_HUMAN	N	382	ENSP00000329654:K382N	ENSP00000329654:K382N	K	+	3	2	WBSCR17	70768397	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.582000	0.46085	2.770000	0.95276	0.563000	0.77884	AAG	WBSCR17	-	NULL		0.493	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		71130461	1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71130461	G	C	71130461	3	2	117	1	0	0	0	0	1	0	0	0	17295	933	33	1	1172	1	WBSCR17	7	71130461	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	899281	71130461	88008202	510	17978										
POMZP3	22932	genome.wustl.edu	37	chr7	76254879	76254879	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcaaggaatatttggtcttCttcctccactgtccttttct	5	11	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:76254879C>T	ENST00000310842.4	-	3	871	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.E63K|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	63										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				ATTTGGTCTTCTTCCTCCACT	0.468																																																	0													144	134	137					7																	76254879		2202	4280	6482	SO:0001583	missense	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.187G>A	7.37:g.76254879C>T	ENSP00000309233:p.Glu63Lys		F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	pfam_ZP_dom	p.E63K	ENST00000310842.4	37	c.187	CCDS43606.1	7	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846690	0.51164	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.48836	1.3;0.8	0.694	0.694	0.18062	.	1.338720	0.05374	N	0.535935	T	0.57154	0.2034	M	0.77103	2.36	0.20307	N	0.999916	P	0.46578	0.88	P	0.50270	0.636	T	0.46748	-0.9169	10	0.59425	D	0.04	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	63	Q6PJE2	POZP3_HUMAN	K	63	ENSP00000309233:E63K;ENSP00000405319:E63K	ENSP00000275569:E63K	E	-	1	0	POMZP3	76092815	1.000000	0.71417	0.821000	0.32701	0.819000	0.46315	1.854000	0.39368	0.690000	0.31570	0.472000	0.43445	GAA	POMZP3	-	NULL		0.468	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	C	NM_012230		76254879	-1	no_errors	ENST00000310842	ensembl	human	known	70_37	missense	SNP	0.877	T	T	76254879	C	T	76254879	3	4	117	1	0	0	0	0	1	0	0	0	12271	922	32	1	399	1	POMZP3	7	76254879	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5124418	76254879	82883784	511	17979										
PION	54103	genome.wustl.edu	37	chr7	76982319	76982319	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtccatgttacttgtctctGaatatacactccagtatgaa	6	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:76982319G>C	ENST00000257626.7	-	18	1511	c.1433C>G	c.(1432-1434)tCa>tGa	p.S478*		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	478					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ACTTGTCTCTGAATATACACT	0.353																																																	0													205	179	188					7																	76982319		2203	4300	6503	SO:0001587	stop_gained	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1433C>G	7.37:g.76982319G>C	ENSP00000257626:p.Ser478*		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Nonsense_Mutation	SNP	NULL	p.S478*	ENST00000257626.7	37	c.1433	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	37	6.053063	0.97241	.	.	ENSG00000186088	ENST00000257626	.	.	.	5.96	3.85	0.44370	.	0.584215	0.15226	U	0.273662	.	.	.	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	8.1695	0.31247	0.2455:0.0:0.7545:0.0	.	.	.	.	X	478	.	ENSP00000257626:S478X	S	-	2	0	PION	76820255	1.000000	0.71417	0.157000	0.22605	0.978000	0.69477	2.867000	0.48428	1.530000	0.49136	0.655000	0.94253	TCA	PION	-	NULL		0.353	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PION	HGNC	protein_coding	OTTHUMT00000318672.2	G	NM_017439		76982319	-1	no_errors	ENST00000257626	ensembl	human	known	70_37	nonsense	SNP	0.026	C	C	76982319	G	C	76982319	4	2	117	1	0	0	0	0	0	1	0	0	11958	1294	45	1	1187	1	PION	7	76982319	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	727440	76982319	82156344	512	17980										
HGF	3082	genome.wustl.edu	37	chr7	81392151	81392151	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtagtctttgctgattttttGaattcatgaattgtatttct	7	4	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:81392151G>T	ENST00000222390.5	-	2	352	c.126C>A	c.(124-126)ttC>ttA	p.F42L	HGF_ENST00000453411.1_Missense_Mutation_p.F42L|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.F42L|HGF_ENST00000457544.2_Missense_Mutation_p.F42L|HGF_ENST00000354224.6_Missense_Mutation_p.F42L|HGF_ENST00000423064.2_Missense_Mutation_p.F42L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	42	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTGATTTTTTGAATTCATGAA	0.284																																																	0													171	150	157					7																	81392151		2203	4299	6502	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.126C>A	7.37:g.81392151G>T	ENSP00000222390:p.Phe42Leu		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F42L	ENST00000222390.5	37	c.126	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471117	0.43942	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.87	1.93	0.25924	PAN-1 domain (1);Apple-like (2);	0.055520	0.64402	D	0.000001	T	0.75391	0.3843	L	0.51422	1.61	0.40078	D	0.976095	D;P;P;P;P	0.58268	0.982;0.773;0.773;0.735;0.776	P;B;B;B;B	0.55303	0.773;0.323;0.323;0.235;0.347	T	0.73167	-0.4068	10	0.51188	T	0.08	.	10.0027	0.41938	0.4147:0.0:0.5853:0.0	.	77;42;42;42;42	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	L	42	ENSP00000222390:F42L;ENSP00000391238:F42L;ENSP00000389854:F42L;ENSP00000408270:F42L;ENSP00000413829:F42L;ENSP00000346164:F42L;ENSP00000396307:F42L;ENSP00000388592:F42L	ENSP00000222390:F42L	F	-	3	2	HGF	81230087	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.006000	0.29847	0.066000	0.16515	-0.137000	0.14449	TTC	HGF	-	smart_Pan_app,pfscan_Pan_app		0.284	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	G	NM_000601		81392151	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	0.998	T	T	81392151	G	T	81392151	3	4	117	1	0	0	0	0	1	0	0	0	7105	1281	45	3	2148	3	HGF	7	81392151	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4409832	81392151	77746512	513	17981										
C7orf63	79846	genome.wustl.edu	37	chr7	89937143	89937143	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgggaagatttcttggctaGaacatcaaacgctaaaacgt	9	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:89937143G>C	ENST00000389297.4	+	21	2776	c.2525G>C	c.(2524-2526)aGa>aCa	p.R842T	C7orf63_ENST00000316089.8_Missense_Mutation_p.R796T|C7orf63_ENST00000497910.1_Missense_Mutation_p.R824T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		842										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTCTTGGCTAGAACATCAAAC	0.338																																																	0													66	66	66					7																	89937143		1844	4096	5940	SO:0001583	missense	79846																														ENST00000389297.4:c.2525G>C	7.37:g.89937143G>C	ENSP00000373948:p.Arg842Thr		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R842T	ENST00000389297.4	37	c.2525	CCDS43613.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.422342|4.422342	0.83559|0.83559	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839;ENST00000445156	T;T;T;T|.	0.38722|.	1.7;1.6;1.75;1.12|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.066336|.	0.56097|.	D|.	0.000025|.	T|.	0.77239|.	0.4101|.	M|M	0.78801|0.78801	2.425|2.425	0.46437|0.46437	D|D	0.999041|0.999041	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.995;0.996|.	T|.	0.78102|.	-0.2335|.	10|.	0.87932|.	D|.	0|.	-21.8494|-21.8494	17.6621|17.6621	0.88195|0.88195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	824;842|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	T|Y	842;796;824;379|70;28	ENSP00000373948:R842T;ENSP00000321753:R796T;ENSP00000419549:R824T;ENSP00000391571:R379T|.	ENSP00000321753:R796T|.	R|X	+|+	2|3	0|2	C7orf63|C7orf63	89775079|89775079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	5.114000|5.114000	0.64648|0.64648	2.407000|2.407000	0.81776|0.81776	0.650000|0.650000	0.86243|0.86243	AGA|TAG	C7orf63	-	NULL		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89937143	1	no_errors	ENST00000389297	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89937143	G	C	89937143	3	2	117	1	0	0	0	0	1	0	0	0	2414	942	33	1	2607	1	C7orf63	7	89937143	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8544992	89937143	69201520	514	17982										
STAG3	10734	genome.wustl.edu	37	chr7	99780363	99780363	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taggtggcaaaacatccaaaGaaagggtcccgagtggtaca	12	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:99780363G>C	ENST00000426455.1	+	4	644	c.237G>C	c.(235-237)aaG>aaC	p.K79N	STAG3_ENST00000317296.5_Missense_Mutation_p.K79N|STAG3_ENST00000394018.2_Missense_Mutation_p.K79N	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	79					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACATCCAAAGAAAGGGTCCC	0.398																																																	0													151	158	156					7																	99780363		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.237G>C	7.37:g.99780363G>C	ENSP00000400359:p.Lys79Asn		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.K79N	ENST00000426455.1	37	c.237	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016771	0.35606	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.31510	1.8;1.49;1.8	5.32	4.45	0.53987	.	0.294479	0.24379	N	0.039025	T	0.30262	0.0759	M	0.66939	2.045	0.33916	D	0.640223	P;B	0.44877	0.845;0.025	B;B	0.39660	0.306;0.011	T	0.48758	-0.9007	10	0.33141	T	0.24	-22.079	9.7632	0.40545	0.0923:0.0:0.9077:0.0	.	79;79	B4DZ10;Q9UJ98	.;STAG3_HUMAN	N	79	ENSP00000400359:K79N;ENSP00000377586:K79N;ENSP00000319318:K79N	ENSP00000319318:K79N	K	+	3	2	STAG3	99618299	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.686000	0.46968	1.491000	0.48482	-0.237000	0.12165	AAG	STAG3	-	NULL		0.398	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	G	NM_012447		99780363	1	no_errors	ENST00000317296	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99780363	G	C	99780363	3	2	117	1	0	0	0	0	1	0	0	0	15274	933	33	1	247	1	STAG3	7	99780363	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9843220	99780363	59358300	515	17983										
MEPCE	56257	genome.wustl.edu	37	chr7	100028248	100028248	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctgaatagcctcctggatGaggaagtgagccgcactctc	11	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100028248G>A	ENST00000310512.2	+	1	995	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	203					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCTGGATGAGGAAGTGAG	0.567																																																	0													81	80	80					7																	100028248		2203	4300	6503	SO:0001583	missense	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.607G>A	7.37:g.100028248G>A	ENSP00000308546:p.Glu203Lys		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	pfam_Bin3	p.E203K	ENST00000310512.2	37	c.607	CCDS5693.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.301261	0.95601	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	L	0.52905	1.665	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.74044	-0.3791	9	0.45353	T	0.12	-9.6159	15.5198	0.75857	0.0:0.0:1.0:0.0	.	203	Q7L2J0	MEPCE_HUMAN	K	203	.	ENSP00000308546:E203K	E	+	1	0	MEPCE	99866184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.556000	0.90697	2.530000	0.85305	0.561000	0.74099	GAG	MEPCE	-	NULL		0.567	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1	G			100028248	1	no_errors	ENST00000310512	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100028248	G	A	100028248	3	1	117	1	0	0	0	0	1	0	0	0	9500	1291	45	1	609	1	MEPCE	7	100028248	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	247885	100028248	59110415	516	17984										
SRRT	51593	genome.wustl.edu	37	chr7	100485023	100485023	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctcagaggaagaggcccaGaagatggggcgcaaagaccc	14	11	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100485023G>A	ENST00000347433.4	+	16	2216	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	SRRT_ENST00000388793.4_Silent_p.Q685Q|SRRT_ENST00000432932.1_Silent_p.Q685Q|SRRT_ENST00000457580.2_Silent_p.Q686Q			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	686					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGAGGCCCAGAAGATGGGGC	0.562																																																	0													106	104	105					7																	100485023		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2058G>A	7.37:g.100485023G>A			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.Q685	ENST00000347433.4	37	c.2055	CCDS34709.1	7																																																																																			SRRT	-	pfam_Arsenite-R_2		0.562	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100485023	1	no_errors	ENST00000388793	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100485023	G	A	100485023	2	1	117	1	0	0	0	0	0	0	0	1	15202	933	33	1		1	SRRT	7	100485023	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	456775	100485023	58653640	517	17985										
MUC17	140453	genome.wustl.edu	37	chr7	100686385	100686385	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctggggccagcatagcttcGacacctcctcttgacacaag	9	15	1	1	rs140034397		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100686385G>C	ENST00000306151.4	+	3	11752	c.11688G>C	c.(11686-11688)tcG>tcC	p.S3896S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3896					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)			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)					GCATAGCTTCGACACCTCCTC	0.468																																																	0													153	146	148					7																	100686385		2203	4300	6503	SO:0001819	synonymous_variant	140453			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.11688G>C	7.37:g.100686385G>C			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S3896	ENST00000306151.4	37	c.11688	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100686385	1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.124	C	C	100686385	G	C	100686385	2	2	117	1	0	0	0	0	0	0	0	1	9997	1045	37	1		1	MUC17	7	100686385	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	201362	100686385	58452278	518	17986										
CUX1	1523	genome.wustl.edu	37	chr7	101813743	101813743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagagggcagaggtggctcaGagagaggcggagaccttaag	18	7	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:101813743G>A	ENST00000292535.7	+	10	779	c.741G>A	c.(739-741)caG>caA	p.Q247Q	CUX1_ENST00000393824.3_Silent_p.Q221Q|CUX1_ENST00000550008.2_Silent_p.Q247Q|CUX1_ENST00000360264.3_Silent_p.Q258Q|CUX1_ENST00000437600.4_Silent_p.Q258Q|CUX1_ENST00000546411.2_Silent_p.Q247Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.Q242Q|CUX1_ENST00000292538.4_Silent_p.Q258Q|CUX1_ENST00000425244.2_Silent_p.Q212Q|CUX1_ENST00000549414.2_Silent_p.Q247Q|CUX1_ENST00000556210.1_Silent_p.Q247Q	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	247					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGTGGCTCAGAGAGAGGCGG	0.493																																																	0													36	30	32					7																	101813743		2203	4299	6502	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.741G>A	7.37:g.101813743G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q258	ENST00000292535.7	37	c.774	CCDS5721.1	7																																																																																			CUX1	-	NULL		0.493	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913		101813743	1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101813743	G	A	101813743	2	1	117	1	0	0	0	0	0	0	0	1	4069	933	33	1		1	CUX1	7	101813743	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1127358	101813743	57324920	519	17987										
MLL5	55904	genome.wustl.edu	37	chr7	104752965	104752965	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtttacatcaggaccaaatCaagcacttcctggcaccaca	6	13	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:104752965C>G	ENST00000311117.3	+	27	5307	c.4762C>G	c.(4762-4764)Caa>Gaa	p.Q1588E	KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1588E|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1546E|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1588	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AGGACCAAATCAAGCACTTCC	0.453																																																	0													135	127	130					7																	104752965		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4762C>G	7.37:g.104752965C>G	ENSP00000312379:p.Gln1588Glu		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1588E	ENST00000311117.3	37	c.4762	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93247	-3.19;-3.17;-3.19	3.34	3.34	0.38264	.	0.168583	0.28082	N	0.016670	D	0.91845	0.7419	N	0.24115	0.695	0.80722	D	1	D;P	0.56287	0.975;0.924	P;P	0.59424	0.627;0.857	D	0.89093	0.3484	10	0.17369	T	0.5	.	15.0453	0.71822	0.0:1.0:0.0:0.0	.	1508;1588	F8W6H1;Q8IZD2	.;MLL5_HUMAN	E	1588;1546;1508;1588	ENSP00000312379:Q1588E;ENSP00000335599:Q1546E;ENSP00000257745:Q1588E	ENSP00000257745:Q1588E	Q	+	1	0	MLL5	104540201	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.360000	0.66086	1.578000	0.49821	0.305000	0.20034	CAA	MLL5	-	NULL		0.453	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104752965	1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104752965	C	G	104752965	3	3	117	1	0	0	0	0	1	0	0	0	9647	827	29	1	4860	1	MLL5	7	104752965	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2939222	104752965	54385698	520	17988										
SLC13A1	6561	genome.wustl.edu	37	chr7	122821030	122821030	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggcaagaggacttaccttCttagaaggcatgatcccaaa	9	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:122821030C>G	ENST00000194130.2	-	2	264	c.225G>C	c.(223-225)aaG>aaC	p.K75N	SLC13A1_ENST00000539873.1_Missense_Mutation_p.K11N	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	75					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GACTTACCTTCTTAGAAGGCA	0.403																																																	0													108	96	100					7																	122821030		2203	4300	6503	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.225G>C	7.37:g.122821030C>G	ENSP00000194130:p.Lys75Asn		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.K75N	ENST00000194130.2	37	c.225	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335974	0.41398	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.02944	4.1;4.1	6.16	-1.18	0.09617	.	0.272209	0.41938	D	0.000794	T	0.01905	0.0060	L	0.35854	1.095	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.44711	-0.9310	10	0.25751	T	0.34	.	1.2491	0.01978	0.1301:0.2301:0.256:0.3838	.	75	Q9BZW2	S13A1_HUMAN	N	75;11	ENSP00000194130:K75N;ENSP00000441309:K11N	ENSP00000194130:K75N	K	-	3	2	SLC13A1	122608266	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-0.913000	0.04042	-0.565000	0.06061	-0.156000	0.13503	AAG	SLC13A1	-	pfam_Na/sul_symport		0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	C	NM_022444		122821030	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	missense	SNP	0.000	G	G	122821030	C	G	122821030	3	3	117	1	0	0	0	0	1	0	0	0	14421	912	32	1	1618	1	SLC13A1	7	122821030	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	18068065	122821030	36317633	521	17989										
PAX4	5078	genome.wustl.edu	37	chr7	127253524	127253524	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctcaccgtgtcctcaggcaGagaggtggcagtagccagct	13	13	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:127253524G>C	ENST00000341640.2	-	5	806	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	PAX4_ENST00000463946.1_Missense_Mutation_p.L199V|PAX4_ENST00000378740.2_Missense_Mutation_p.L201V|PAX4_ENST00000338516.3_Missense_Mutation_p.L209V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	209					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCTCAGGCAGAGAGGTGGCA	0.582																																					Ovarian(113;737 1605 7858 27720 34092)												0													65	67	67					7																	127253524		2203	4300	6503	SO:0001583	missense	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.601C>G	7.37:g.127253524G>C	ENSP00000339906:p.Leu201Val		O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.L201V	ENST00000341640.2	37	c.601	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776475	0.70107	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.98207	-4.79;-4.79;-4.79	4.9	3.09	0.35607	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.103003	0.39210	N	0.001426	D	0.98409	0.9471	M	0.71920	2.185	0.44595	D	0.997567	D;D;D;D	0.89917	0.999;0.999;1.0;0.994	D;D;D;D	0.97110	0.991;0.994;1.0;0.943	D	0.98360	1.0548	10	0.87932	D	0	.	9.6417	0.39844	0.1755:0.0:0.8245:0.0	.	201;199;209;199	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	201;209;209;199	ENSP00000339906:L201V;ENSP00000344297:L209V;ENSP00000451923:L199V	ENSP00000344297:L209V	L	-	1	2	PAX4	127040760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	0.751000	0.32900	0.650000	0.86243	CTG	PAX4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	G			127253524	-1	no_errors	ENST00000341640	ensembl	human	known	70_37	missense	SNP	0.998	C	C	127253524	G	C	127253524	3	2	117	1	0	0	0	0	1	0	0	0	11505	933	33	1	450	1	PAX4	7	127253524	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4432494	127253524	31885139	522	17990										
FLNC	2318	genome.wustl.edu	37	chr7	128490064	128490064	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgcacgaggaggagccctCtgaagtgccacagctgcgcc	14	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:128490064C>G	ENST00000325888.8	+	31	5495	c.5234C>G	c.(5233-5235)tCt>tGt	p.S1745C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Intron	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1745	Hinge 1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGAGCCCTCTGAAGTGCCA	0.711																																																	0													13	19	17					7																	128490064		2078	4189	6267	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5234C>G	7.37:g.128490064C>G	ENSP00000327145:p.Ser1745Cys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S1745C	ENST00000325888.8	37	c.5234	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785882	0.31593	.	.	ENSG00000128591	ENST00000325888	D	0.85484	-1.99	5.09	3.16	0.36331	.	0.707074	0.13347	N	0.394704	T	0.71384	0.3333	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.61922	-0.6963	10	0.46703	T	0.11	.	11.7552	0.51872	0.0:0.4785:0.5215:0.0	.	1745	Q14315	FLNC_HUMAN	C	1745	ENSP00000327145:S1745C	ENSP00000327145:S1745C	S	+	2	0	FLNC	128277300	0.246000	0.23909	0.014000	0.15608	0.985000	0.73830	1.521000	0.35910	1.075000	0.40932	0.655000	0.94253	TCT	FLNC	-	NULL		0.711	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128490064	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	0.025	G	G	128490064	C	G	128490064	3	3	117	1	0	0	0	0	1	0	0	0	5953	913	32	1	5356	1	FLNC	7	128490064	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1236540	128490064	30648599	523	17991										
CHCHD3	54927	genome.wustl.edu	37	chr7	132481277	132481277	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagggtctggtgggtgttctCacggtaacactgaagaattt	14	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:132481277C>A	ENST00000262570.5	-	7	730	c.586G>T	c.(586-588)Gag>Tag	p.E196*	CHCHD3_ENST00000448878.1_Nonsense_Mutation_p.E201*|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	196	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TGGGTGTTCTCACGGTAACAC	0.527																																																	0													147	121	130					7																	132481277		2203	4300	6503	SO:0001587	stop_gained	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.586G>T	7.37:g.132481277C>A	ENSP00000262570:p.Glu196*			Nonsense_Mutation	SNP	pfam_DUF737	p.E196*	ENST00000262570.5	37	c.586	CCDS5828.1	7	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504526	0.44558	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	.	.	.	5.81	1.72	0.24424	.	0.309648	0.39834	N	0.001245	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-7.5765	12.9418	0.58350	0.0651:0.4393:0.4956:0.0	.	.	.	.	X	196;201	.	ENSP00000262570:E196X	E	-	1	0	CHCHD3	132131817	0.996000	0.38824	0.996000	0.52242	0.044000	0.14063	2.394000	0.44450	0.768000	0.33290	-0.171000	0.13296	GAG	CHCHD3	-	NULL		0.527	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHCHD3	HGNC	protein_coding	OTTHUMT00000338899.1	C	NM_017812		132481277	-1	no_errors	ENST00000262570	ensembl	human	known	70_37	nonsense	SNP	0.937	A	A	132481277	C	A	132481277	4	1	117	1	0	0	0	0	0	1	0	0	3322	835	29	3	105	3	CHCHD3	7	132481277	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3991213	132481277	26657386	524	17992										
SLC37A3	84255	genome.wustl.edu	37	chr7	140051183	140051183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcatattcgtcttcattttCaccaccattaattaatggcc	3	12	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:140051183C>T	ENST00000326232.9	-	9	975	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Missense_Mutation_p.E258K|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E258K	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	258					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCTTCATTTTCACCACCATTA	0.428																																					Esophageal Squamous(133;211 1716 4665 11387 37873)												0													164	153	157					7																	140051183		2203	4300	6503	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.772G>A	7.37:g.140051183C>T	ENSP00000321498:p.Glu258Lys		Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E258K	ENST00000326232.9	37	c.772	CCDS5859.1	7	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063584	0.55432	.	.	ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232	T;T;T	0.19394	2.15;2.44;2.44	4.71	3.83	0.44106	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.302986	0.32459	N	0.006067	T	0.20047	0.0482	L	0.52364	1.645	0.80722	D	1	B;B;B	0.29862	0.079;0.259;0.095	B;B;B	0.29176	0.03;0.099;0.047	T	0.03555	-1.1025	10	0.28530	T	0.3	-23.6976	13.0244	0.58806	0.0:0.9192:0.0:0.0808	.	258;258;258	Q8NCC5-2;Q8NCC5-3;Q8NCC5	.;.;SPX3_HUMAN	K	258	ENSP00000343358:E258K;ENSP00000397481:E258K;ENSP00000321498:E258K	ENSP00000321498:E258K	E	-	1	0	SLC37A3	139697652	0.995000	0.38212	0.681000	0.30009	0.776000	0.43924	2.536000	0.45693	1.288000	0.44600	0.514000	0.50259	GAA	SLC37A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.428	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A3	HGNC	protein_coding	OTTHUMT00000348492.1	C	NM_032295		140051183	-1	no_errors	ENST00000326232	ensembl	human	known	70_37	missense	SNP	0.822	T	T	140051183	C	T	140051183	3	4	117	1	0	0	0	0	1	0	0	0	14629	835	29	1	889	1	SLC37A3	7	140051183	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7569906	140051183	19087480	525	17993										
PRSS1	5644	genome.wustl.edu	37	chr7	142459659	142459659	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gactgggagagcacaacatcGaagtcctggaggggaatgag	16	7	0	2	rs111033564	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:142459659G>T	ENST00000311737.7	+	3	241	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	PRSS1_ENST00000486171.1_Nonsense_Mutation_p.E93*	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		E -> K (in PCTT; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect; dbSNP:rs28934902). {ECO:0000269|PubMed:14695529}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCACAACATCGAAGTCCTGGA	0.547																																																	0			GRCh37	CM011001	PRSS1	M	rs111033564						199	188	192					7																	142459659		2203	4300	6503	SO:0001587	stop_gained	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.235G>T	7.37:g.142459659G>T	ENSP00000308720:p.Glu79*		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E79*	ENST00000311737.7	37	c.235	CCDS5872.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.177|9.177	1.022555|1.022555	0.19433|0.19433	.|.	.|.	ENSG00000204983|ENSG00000204983	ENST00000529243|ENST00000486171;ENST00000311737;ENST00000492062	.|.	.|.	.|.	3.28|3.28	-0.961|-0.961	0.10337|0.10337	.|.	.|0.756857	.|0.13562	.|N	.|0.378759	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.06365	.|T	.|0.9	.|.	5.0305|5.0305	0.14407|0.14407	0.2676:0.162:0.5704:0.0|0.2676:0.162:0.5704:0.0	.|.	.|.	.|.	.|.	.|X	-1|93;79;29	.|.	.|ENSP00000308720:E79X	.|E	+|+	.|1	.|0	PRSS1|PRSS1	142139233|142139233	0.000000|0.000000	0.05858|0.05858	0.219000|0.219000	0.23793|0.23793	0.074000|0.074000	0.17049|0.17049	0.587000|0.587000	0.23909|0.23909	0.009000|0.009000	0.14813|0.14813	-1.156000|-1.156000	0.01807|0.01807	.|GAA	PRSS1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	HGNC	protein_coding	OTTHUMT00000352538.2	G			142459659	1	no_errors	ENST00000311737	ensembl	human	known	70_37	nonsense	SNP	0.373	T	T	142459659	G	T	142459659	4	4	117	1	0	0	0	0	0	1	0	0	12641	1059	37	3	245	3	PRSS1	7	142459659	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2408476	142459659	16679004	526	17994										
MLL3	58508	genome.wustl.edu	37	chr7	151877103	151877103	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctggttgccagtgttgaaGaggccctggatgaggcactg	15	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:151877103G>C	ENST00000262189.6	-	37	7476	c.7258C>G	c.(7258-7260)Ctt>Gtt	p.L2420V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L2420V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2420	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGTGTTGAAGAGGCCCTGGA	0.542																																																	0													238	202	214					7																	151877103		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7258C>G	7.37:g.151877103G>C	ENSP00000262189:p.Leu2420Val		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2420V	ENST00000262189.6	37	c.7258	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828159	0.32329	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.5	5.5	0.81552	.	0.000000	0.39615	N	0.001306	T	0.77425	0.4128	L	0.57536	1.79	0.80722	D	1	B;P	0.39022	0.172;0.655	B;B	0.35039	0.035;0.194	T	0.74819	-0.3535	10	0.10636	T	0.68	.	15.0445	0.71816	0.0:0.0:0.8573:0.1427	.	2420;1481	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	2420	ENSP00000262189:L2420V;ENSP00000347325:L2420V	ENSP00000262189:L2420V	L	-	1	0	MLL3	151508036	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	4.521000	0.60532	2.578000	0.87016	0.650000	0.86243	CTT	MLL3	-	NULL		0.542	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877103	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.802	C	C	151877103	G	C	151877103	3	2	117	1	0	0	0	0	1	0	0	0	9645	942	33	1	7569	1	MLL3	7	151877103	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9417444	151877103	7261560	527	17995										
RBM33	155435	genome.wustl.edu	37	chr7	155534643	155534643	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatgagcagcagccgctgctCtgccacgccctcagcacaag	10	16	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:155534643C>G	ENST00000401878.3	+	13	2378	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	727							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCCGCTGCTCTGCCACGCCC	0.582																																																	0													90	89	89					7																	155534643		2203	4300	6503	SO:0001583	missense	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2180C>G	7.37:g.155534643C>G	ENSP00000384160:p.Ser727Cys		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.S727C	ENST00000401878.3	37	c.2180	CCDS5941.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788471|2.788471	0.49997|0.49997	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878	.|T	.|0.47869	.|0.83	5.78|5.78	4.85|4.85	0.62838|0.62838	.|.	.|0.401206	.|0.24191	.|N	.|0.040716	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999983|0.999983	.|D;D	.|0.76494	.|0.99;0.999	.|P;D	.|0.64595	.|0.639;0.927	T|T	0.60831|0.60831	-0.7185|-0.7185	5|10	.|0.72032	.|D	.|0.01	.|.	11.2284|11.2284	0.48897|0.48897	0.1407:0.7233:0.1359:0.0|0.1407:0.7233:0.1359:0.0	.|.	.|444;727	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	V|C	499|727	.|ENSP00000384160:S727C	.|ENSP00000384160:S727C	L|S	+|+	1|2	2|0	RBM33|RBM33	155227404|155227404	0.795000|0.795000	0.28851|0.28851	0.992000|0.992000	0.48379|0.48379	0.225000|0.225000	0.24961|0.24961	1.528000|1.528000	0.35985|0.35985	2.734000|2.734000	0.93682|0.93682	0.591000|0.591000	0.81541|0.81541	CTG|TCT	RBM33	-	NULL		0.582	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	C	NM_001008408		155534643	1	no_errors	ENST00000401878	ensembl	human	known	70_37	missense	SNP	0.672	G	G	155534643	C	G	155534643	3	3	117	1	0	0	0	0	1	0	0	0	13160	913	32	1	2230	1	RBM33	7	155534643	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3657540	155534643	3604020	528	17996										
UBE3C	9690	genome.wustl.edu	37	chr7	157041173	157041173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctcgcctccctagaccctGaggtgtataagaatttgctc	8	13	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:157041173G>A	ENST00000348165.5	+	19	2953	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	865	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTAGACCCTGAGGTGTATAA	0.527																																																	0													157	159	158					7																	157041173		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2593G>A	7.37:g.157041173G>A	ENSP00000309198:p.Glu865Lys		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E865K	ENST00000348165.5	37	c.2593	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674777	0.67928	.	.	ENSG00000009335	ENST00000348165	T	0.59224	0.28	5.61	5.61	0.85477	HECT (4);	0.048860	0.85682	D	0.000000	T	0.75332	0.3835	M	0.89715	3.055	0.80722	D	1	P;B	0.35575	0.51;0.316	P;B	0.45913	0.497;0.395	T	0.76364	-0.2986	10	0.44086	T	0.13	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	865;718	Q15386;B4DHJ9	UBE3C_HUMAN;.	K	865	ENSP00000309198:E865K	ENSP00000309198:E865K	E	+	1	0	UBE3C	156733934	1.000000	0.71417	0.264000	0.24511	0.005000	0.04900	9.365000	0.97139	2.657000	0.90304	0.655000	0.94253	GAG	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.527	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157041173	1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	A	A	157041173	G	A	157041173	3	1	117	1	0	0	0	0	1	0	0	0	16912	1291	45	1	2667	1	UBE3C	7	157041173	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1506530	157041173	2097490	529	17997										
UBE3C	9690	genome.wustl.edu	37	chr7	157041184	157041184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctagaccctgaggtgtataaGaatttgctctttctgaagag	10	7	2	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:157041184G>C	ENST00000348165.5	+	19	2964	c.2604G>C	c.(2602-2604)aaG>aaC	p.K868N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	868	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGGTGTATAAGAATTTGCTCT	0.537																																																	0													162	164	163					7																	157041184		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2604G>C	7.37:g.157041184G>C	ENSP00000309198:p.Lys868Asn		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.K868N	ENST00000348165.5	37	c.2604	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	6.063	0.380009	0.11466	.	.	ENSG00000009335	ENST00000348165	T	0.57107	0.42	5.61	1.07	0.20283	HECT (4);	0.448050	0.22721	N	0.056448	T	0.35038	0.0918	L	0.27975	0.815	0.80722	D	1	B;B	0.12630	0.006;0.002	B;B	0.22152	0.038;0.026	T	0.07424	-1.0773	10	0.36615	T	0.2	.	7.32	0.26521	0.2437:0.2272:0.5291:0.0	.	868;721	Q15386;B4DHJ9	UBE3C_HUMAN;.	N	868	ENSP00000309198:K868N	ENSP00000309198:K868N	K	+	3	2	UBE3C	156733945	0.998000	0.40836	0.026000	0.17262	0.012000	0.07955	0.597000	0.24059	0.285000	0.22329	0.655000	0.94253	AAG	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.537	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157041184	1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	0.033	C	C	157041184	G	C	157041184	3	2	117	1	0	0	0	0	1	0	0	0	16912	933	33	1	2678	1	UBE3C	7	157041184	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11	157041184	2097479	530	17998										
ESYT2	57488	genome.wustl.edu	37	chr7	158580781	158580781	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatcacccgcatggtaccatGaatctaaactcaaacaggaa	7	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:158580781G>A	ENST00000251527.5	-	6	870	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	297	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ATGGTACCATGAATCTAAACT	0.408																																																	0													94	88	90					7																	158580781		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.805C>T	7.37:g.158580781G>A	ENSP00000251527:p.His269Tyr		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.H269Y	ENST00000251527.5	37	c.805	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712264	0.68730	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.23950	1.88;1.88	5.41	5.41	0.78517	.	0.045404	0.85682	D	0.000000	T	0.51635	0.1686	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.46247	-0.9205	10	0.46703	T	0.11	-19.3528	18.568	0.91124	0.0:0.0:1.0:0.0	.	297;269	A0FGR8-6;A0FGR8-2	.;.	Y	269;297;239;93	ENSP00000251527:H269Y;ENSP00000275418:H239Y	ENSP00000251527:H269Y	H	-	1	0	ESYT2	158273542	1.000000	0.71417	0.995000	0.50966	0.357000	0.29423	8.982000	0.93471	2.712000	0.92718	0.650000	0.86243	CAT	ESYT2	-	NULL		0.408	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	G	NM_020728		158580781	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	1.000	A	A	158580781	G	A	158580781	3	1	117	1	0	0	0	0	1	0	0	0	5277	1290	45	1	1944	1	ESYT2	7	158580781	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1539597	158580781	557882	531	17999										
CSMD1	64478	genome.wustl.edu	37	chr8	3165225	3165225	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaaacaagtacctaatggtCtttcctgggtctgcctctat	7	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:3165225C>A	ENST00000520002.1	-	26	4500	c.3945G>T	c.(3943-3945)aaG>aaT	p.K1315N	CSMD1_ENST00000539096.1_Missense_Mutation_p.K1314N|CSMD1_ENST00000602723.1_Missense_Mutation_p.K1315N|CSMD1_ENST00000400186.3_Missense_Mutation_p.K1315N|CSMD1_ENST00000602557.1_Missense_Mutation_p.K1315N|CSMD1_ENST00000537824.1_Missense_Mutation_p.K1314N|CSMD1_ENST00000542608.1_Missense_Mutation_p.K1314N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1315	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTAATGGTCTTTCCTGGGT	0.438																																																	0													201	197	198					8																	3165225		1951	4141	6092	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3945G>T	8.37:g.3165225C>A	ENSP00000430733:p.Lys1315Asn		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.K1315N	ENST00000520002.1	37	c.3945		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.611|5.611	0.297415|0.297415	0.10622|0.10622	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.59906	.|0.23;0.23;0.23;0.23;0.23	4.51|4.51	0.616|0.616	0.17613|0.17613	.|CUB (5);	.|0.149257	.|0.43110	.|D	.|0.000618	T|T	0.34658|0.34658	0.0905|0.0905	N|N	0.16201|0.16201	0.385|0.385	0.49582|0.49582	D|D	0.9998|0.9998	.|B;B;B	.|0.24317	.|0.101;0.002;0.0	.|B;B;B	.|0.27715	.|0.082;0.013;0.006	T|T	0.04593|0.04593	-1.0940|-1.0940	5|10	.|0.22706	.|T	.|0.39	.|.	8.5383|8.5383	0.33377|0.33377	0.0:0.5239:0.0:0.4761|0.0:0.5239:0.0:0.4761	.|.	.|1315;1315;1315	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	Y|N	795|1315;1315;1177;1314;1314;1314	.|ENSP00000383047:K1315N;ENSP00000430733:K1315N;ENSP00000441462:K1314N;ENSP00000446243:K1314N;ENSP00000441675:K1314N	.|ENSP00000320445:K1177N	D|K	-|-	1|3	0|2	CSMD1|CSMD1	3152632|3152632	0.997000|0.997000	0.39634|0.39634	0.673000|0.673000	0.29887|0.29887	0.403000|0.403000	0.30841|0.30841	0.399000|0.399000	0.20916|0.20916	0.367000|0.367000	0.24454|0.24454	-0.145000|-0.145000	0.13849|0.13849	GAC|AAG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3165225	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.848	A	A	3165225	C	A	3165225	3	1	117	1	0	0	0	0	1	0	0	0	3949	912	32	3	6936	3	CSMD1	8	3165225	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		3165225	143198797	532	18000										
TNKS	8658	genome.wustl.edu	37	chr8	9605588	9605588	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacgtgtgtaaatgcaacaGataagtgggcgtttactccc	10	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:9605588G>T	ENST00000310430.6	+	18	2724	c.2698G>T	c.(2698-2700)Gat>Tat	p.D900Y	TNKS_ENST00000518281.1_Missense_Mutation_p.D663Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	900					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAATGCAACAGATAAGTGGGC	0.453																																																	0													89	89	89					8																	9605588		2203	4300	6503	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2698G>T	8.37:g.9605588G>T	ENSP00000311579:p.Asp900Tyr		O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.D900Y	ENST00000310430.6	37	c.2698	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.105606	0.94292	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.77489	-1.1;2.18	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93014	0.6434	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	900	O95271	TNKS1_HUMAN	Y	900;663	ENSP00000311579:D900Y;ENSP00000429890:D663Y	ENSP00000311579:D900Y	D	+	1	0	TNKS	9642998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.623000	0.98386	2.779000	0.95612	0.650000	0.86243	GAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	G	NM_003747		9605588	1	no_errors	ENST00000310430	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9605588	G	T	9605588	3	4	117	1	0	0	0	0	1	0	0	0	16349	942	33	3	2768	3	TNKS	8	9605588	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6440363	9605588	136758434	533	18001										
MSRA	4482	genome.wustl.edu	37	chr8	10102637	10102637	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggatgtttctggggagctGaaaggaaattctgggtcttg	16	4	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:10102637G>A	ENST00000317173.4	+	3	484	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	MSRA_ENST00000382490.5_Missense_Mutation_p.E36K|MSRA_ENST00000521209.2_Missense_Mutation_p.E13K|MSRA_ENST00000518255.1_Missense_Mutation_p.E79K|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.E13K	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	79					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CTGGGGAGCTGAAAGGAAATT	0.373																																					NSCLC(88;1378 1469 30580 49103 52286)												0													95	99	98					8																	10102637		2203	4300	6503	SO:0001583	missense	4482			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.235G>A	8.37:g.10102637G>A	ENSP00000313921:p.Glu79Lys		E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA	p.E79K	ENST00000317173.4	37	c.235	CCDS5975.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.463720	0.96257	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.99299	4.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94764	0.7939	8	.	.	.	-21.2925	18.3384	0.90297	0.0:0.0:1.0:0.0	.	36;36;79	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	K	79;79;13;13;13;36	.	.	E	+	1	0	MSRA	10140047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.331000	0.96430	2.675000	0.91044	0.655000	0.94253	GAA	MSRA	-	pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA		0.373	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRA	HGNC	protein_coding	OTTHUMT00000207005.1	G	NM_012331		10102637	1	no_errors	ENST00000317173	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10102637	G	A	10102637	3	1	117	1	0	0	0	0	1	0	0	0	9910	1291	45	1	262	1	MSRA	8	10102637	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	497049	10102637	136261385	534	18002										
RP1L1	94137	genome.wustl.edu	37	chr8	10466144	10466144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtcctggatcttggtcacCtcctgccgcagcttcaccct	8	17	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:10466144C>T	ENST00000382483.3	-	4	5687	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1902					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGTCACCTCCTGCCGCA	0.612																																																	0													159	180	173					8																	10466144		2094	4214	6308	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5464G>A	8.37:g.10466144C>T	ENSP00000371923:p.Gly1822Ser		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G1822S	ENST00000382483.3	37	c.5464	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997211	0.35226	.	.	ENSG00000183638	ENST00000382483	T	0.11277	2.79	4.1	3.21	0.36854	.	1.239200	0.06258	N	0.693380	T	0.08802	0.0218	L	0.27053	0.805	0.09310	N	1	P	0.34724	0.465	B	0.32465	0.146	T	0.39165	-0.9627	10	0.30078	T	0.28	-0.7225	8.1981	0.31409	0.0:0.7965:0.0:0.2035	.	1822	A6NKC6	.	S	1822	ENSP00000371923:G1822S	ENSP00000371923:G1822S	G	-	1	0	RP1L1	10503554	0.000000	0.05858	0.006000	0.13384	0.293000	0.27360	0.562000	0.23531	0.709000	0.31976	0.455000	0.32223	GGT	RP1L1	-	NULL		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	C			10466144	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.000	T	T	10466144	C	T	10466144	3	4	117	1	0	0	0	0	1	0	0	0	13563	681	24	4	1742	4	RP1L1	8	10466144	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	363507	10466144	135897878	535	18003										
FDFT1	2222	genome.wustl.edu	37	chr8	11695907	11695907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctttaacagatttatcataGaatccccgactcagacccat	4	12	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:11695907G>C	ENST00000220584.4	+	8	1265	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T	FDFT1_ENST00000528643.1_Missense_Mutation_p.R263T|FDFT1_ENST00000528812.1_Missense_Mutation_p.R284T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000530664.1_Missense_Mutation_p.R284T|FDFT1_ENST00000443614.2_Missense_Mutation_p.R305T|FDFT1_ENST00000525777.1_Missense_Mutation_p.R263T|FDFT1_ENST00000538689.1_Missense_Mutation_p.R237T|FDFT1_ENST00000525900.1_Missense_Mutation_p.R341T	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	348					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATTTATCATAGAATCCCCGAC	0.438																																																	0													91	84	86					8																	11695907		2203	4300	6503	SO:0001583	missense	2222			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.1043G>C	8.37:g.11695907G>C	ENSP00000220584:p.Arg348Thr		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.R348T	ENST00000220584.4	37	c.1043	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	G	6.895	0.534577	0.13188	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.16	3.36	0.38483	Terpenoid synthase (2);	0.159458	0.56097	D	0.000030	T	0.49029	0.1533	N	0.19112	0.55	0.09310	N	0.999993	B;B;B;B;B	0.30361	0.121;0.014;0.277;0.044;0.044	B;B;B;B;B	0.17433	0.013;0.009;0.018;0.011;0.011	T	0.45498	-0.9257	10	0.66056	D	0.02	-15.0429	6.3196	0.21211	0.3673:0.0:0.6327:0.0	.	181;305;405;341;348	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	T	237;348;305;341;284;284;263;263	ENSP00000444248:R237T;ENSP00000220584:R348T;ENSP00000390367:R305T;ENSP00000434714:R341T;ENSP00000431749:R284T;ENSP00000432331:R284T;ENSP00000431649:R263T;ENSP00000436069:R263T	ENSP00000220584:R348T	R	+	2	0	FDFT1	11733316	1.000000	0.71417	0.009000	0.14445	0.019000	0.09904	5.033000	0.64146	0.873000	0.35799	0.591000	0.81541	AGA	FDFT1	-	superfamily_Terpenoid_synth,tigrfam_Squal_synth		0.438	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	G			11695907	1	no_errors	ENST00000220584	ensembl	human	known	70_37	missense	SNP	0.168	C	C	11695907	G	C	11695907	3	2	117	1	0	0	0	0	1	0	0	0	5820	942	33	1	1073	1	FDFT1	8	11695907	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1229763	11695907	134668115	536	18004										
PCM1	5108	genome.wustl.edu	37	chr8	17813125	17813125	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagtatctcagaatgagagtGaaaacgaaggccacctcaat	9	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:17813125G>A	ENST00000519253.1	+	10	1686	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	PCM1_ENST00000325083.8_Missense_Mutation_p.E479K|PCM1_ENST00000518537.1_Missense_Mutation_p.E518K|PCM1_ENST00000524226.1_Missense_Mutation_p.E479K			Q15154	PCM1_HUMAN	pericentriolar material 1	479					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAATGAGAGTGAAAACGAAGG	0.368			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													93	86	88					8																	17813125		1877	4108	5985	SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1435G>A	8.37:g.17813125G>A	ENSP00000431099:p.Glu479Lys		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.E479K	ENST00000519253.1	37	c.1435		8	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703563	0.88924	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.29917	3.25;2.33;1.55;3.25;3.01	4.88	4.88	0.63580	.	0.047036	0.85682	D	0.000000	T	0.51483	0.1677	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.67145	0.99;0.992;0.996;0.99	D;D;D;D	0.77557	0.979;0.984;0.99;0.979	T	0.33675	-0.9859	10	0.22109	T	0.4	-19.5863	18.9274	0.92550	0.0:0.0:1.0:0.0	.	479;518;479;479	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	K	479;518;518;518;479;479	ENSP00000327077:E479K;ENSP00000428131:E518K;ENSP00000428123:E518K;ENSP00000431099:E479K;ENSP00000430521:E479K	ENSP00000327077:E479K	E	+	1	0	PCM1	17857405	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.037000	0.76531	2.645000	0.89757	0.655000	0.94253	GAA	PCM1	-	NULL		0.368	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	G	NM_006197		17813125	1	no_errors	ENST00000325083	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17813125	G	A	17813125	3	1	117	1	0	0	0	0	1	0	0	0	11608	1291	45	1	1465	1	PCM1	8	17813125	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6117218	17813125	128550897	537	18005										
PCM1	5108	genome.wustl.edu	37	chr8	17817611	17817611	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaagacaccaagcaaaattCaaataacactagaggaaatg	7	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:17817611C>G	ENST00000519253.1	+	14	2380	c.2129C>G	c.(2128-2130)tCa>tGa	p.S710*	PCM1_ENST00000325083.8_Nonsense_Mutation_p.S710*|PCM1_ENST00000524226.1_Nonsense_Mutation_p.S711*			Q15154	PCM1_HUMAN	pericentriolar material 1	710					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGCAAAATTCAAATAACACT	0.363			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													67	63	64					8																	17817611		1852	4089	5941	SO:0001587	stop_gained	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2129C>G	8.37:g.17817611C>G	ENSP00000431099:p.Ser710*		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	NULL	p.S710*	ENST00000519253.1	37	c.2129		8	.	.	.	.	.	.	.	.	.	.	C	43	10.219558	0.99362	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	.	.	.	5.19	5.19	0.71726	.	0.196591	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.2483	19.6123	0.95613	0.0:1.0:0.0:0.0	.	.	.	.	X	710;749;710;711	.	ENSP00000327077:S710X	S	+	2	0	PCM1	17861891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.971000	0.70440	2.801000	0.96364	0.650000	0.86243	TCA	PCM1	-	NULL		0.363	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	C	NM_006197		17817611	1	no_errors	ENST00000325083	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	17817611	C	G	17817611	4	3	117	1	0	0	0	0	0	1	0	0	11608	838	29	1	2175	1	PCM1	8	17817611	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4486	17817611	128546411	538	18006										
ASAH1	427	genome.wustl.edu	37	chr8	17933080	17933080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaggaggataggttgattttCtgcagtcctctgtccactga	11	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:17933080C>T	ENST00000262097.6	-	2	406	c.95G>A	c.(94-96)aGa>aAa	p.R32K	ASAH1_ENST00000314146.10_Missense_Mutation_p.R48K|ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000520781.1_Missense_Mutation_p.R32K|ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000381733.4_Missense_Mutation_p.R48K	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	32					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GGTTGATTTTCTGCAGTCCTC	0.353																																																	0													168	165	166					8																	17933080		2203	4300	6503	SO:0001583	missense	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.95G>A	8.37:g.17933080C>T	ENSP00000262097:p.Arg32Lys		E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.R48K	ENST00000262097.6	37	c.143	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	.	13.17	2.157057	0.38119	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000314146	T;T;T;T	0.78707	-0.56;-0.41;-0.64;-1.2	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.30482	0.206;0.281;0.101;0.045	B;B;B;B	0.26517	0.043;0.07;0.017;0.017	T	0.62613	-0.6817	10	0.18710	T	0.47	-1.831	9.4689	0.38831	0.0:0.9043:0.0:0.0957	.	48;48;32;32	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	K	32;48;32;48	ENSP00000262097:R32K;ENSP00000371152:R48K;ENSP00000427751:R32K;ENSP00000326970:R48K	ENSP00000262097:R32K	R	-	2	0	ASAH1	17977360	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.822000	0.55708	1.507000	0.48752	0.655000	0.94253	AGA	ASAH1	-	pirsf_Acid_ceramidase-like		0.353	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	HGNC	protein_coding	OTTHUMT00000214077.2	C	NM_004315		17933080	-1	no_errors	ENST00000381733	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17933080	C	T	17933080	3	4	117	1	0	0	0	0	1	0	0	0	1007	913	32	1	1169	1	ASAH1	8	17933080	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	115469	17933080	128430942	539	18007										
C8orf58	541565	genome.wustl.edu	37	chr8	22460773	22460773	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccggaagacctttatgccatCattagtggttaagaagcaac	9	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:22460773C>T	ENST00000289989.5	+	7	1126	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CCAR2_ENST00000308511.4_5'Flank|C8orf58_ENST00000409586.3_Missense_Mutation_p.S343L|CCAR2_ENST00000389279.3_5'Flank|CCAR2_ENST00000521301.1_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	351										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTTATGCCATCATTAGTGGTT	0.532																																																	0													91	91	91					8																	22460773		2203	4300	6503	SO:0001583	missense	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.1052C>T	8.37:g.22460773C>T	ENSP00000289989:p.Ser351Leu		B4DI44	Missense_Mutation	SNP	NULL	p.S351L	ENST00000289989.5	37	c.1052	CCDS34862.1	8	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153116	0.38021	.	.	ENSG00000241852	ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	5.35	3.43	0.39272	.	1.525260	0.04283	N	0.344172	T	0.45975	0.1369	M	0.65975	2.015	0.09310	N	1	P;P	0.42296	0.775;0.775	B;B	0.39660	0.306;0.306	T	0.40534	-0.9558	9	0.59425	D	0.04	-0.9154	8.5728	0.33581	0.0:0.7408:0.1663:0.093	.	343;351	Q8NAV2-2;Q8NAV2	.;CH058_HUMAN	L	343;351;279	.	ENSP00000289989:S351L	S	+	2	0	C8orf58	22516718	0.175000	0.23083	0.402000	0.26371	0.505000	0.33919	1.008000	0.29872	1.238000	0.43771	0.549000	0.68633	TCA	C8orf58	-	NULL		0.532	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	C	NM_001013842		22460773	1	no_errors	ENST00000289989	ensembl	human	known	70_37	missense	SNP	0.036	T	T	22460773	C	T	22460773	3	4	117	1	0	0	0	0	1	0	0	0	2438	838	29	1	1078	1	C8orf58	8	22460773	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4527693	22460773	123903249	540	18008										
SLC25A37	51312	genome.wustl.edu	37	chr8	23429092	23429092	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcgggctggccggggccctCgccgcggccgccacgacccc	17	20	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:23429092C>T	ENST00000519973.1	+	4	939	c.741C>T	c.(739-741)ctC>ctT	p.L247L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	247					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCGGGGCCCTCGCCGCGGCCG	0.657																																																	0													22	27	25					8																	23429092		1906	4104	6010	SO:0001819	synonymous_variant	51312			AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.741C>T	8.37:g.23429092C>T			A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L247	ENST00000519973.1	37	c.741	CCDS47828.1	8																																																																																			SLC25A37	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.657	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A37	HGNC	protein_coding	OTTHUMT00000376039.1	C	NM_016612		23429092	1	no_errors	ENST00000519973	ensembl	human	known	70_37	silent	SNP	0.047	T	T	23429092	C	T	23429092	2	4	117	1	0	0	0	0	0	0	0	1	14531	871	31	1		1	SLC25A37	8	23429092	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	968319	23429092	122934930	541	18009										
PNMA2	10687	genome.wustl.edu	37	chr8	26366151	26366151	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcccagagactttaaagtctCctgaaggacctcctgaatct	8	12	2	3	rs200050472		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:26366151C>A	ENST00000522362.2	-	3	1015	c.121G>T	c.(121-123)Gag>Tag	p.E41*	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	41					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tttaaagtctcctgaaggacc	0.498																																																	0													97	95	96					8																	26366151		2203	4300	6503	SO:0001587	stop_gained	10687				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.121G>T	8.37:g.26366151C>A	ENSP00000429344:p.Glu41*		B3KNY9|O94959|O95145|Q49A18|Q9UL43	Nonsense_Mutation	SNP	pfam_Retrotrans_gag	p.E41*	ENST00000522362.2	37	c.121	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	C	43	10.002772	0.99314	.	.	ENSG00000240694	ENST00000522362	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.7162	11.3945	0.49834	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000429344:E41X	E	-	1	0	PNMA2	26422068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.598000	0.36740	2.389000	0.81357	0.563000	0.77884	GAG	PNMA2	-	NULL		0.498	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	C	NM_007257		26366151	-1	no_errors	ENST00000522362	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	26366151	C	A	26366151	4	1	117	1	0	0	0	0	0	1	0	0	12178	864	30	3	977	3	PNMA2	8	26366151	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2937059	26366151	119997871	542	18010										
TRIM35	23087	genome.wustl.edu	37	chr8	27151768	27151768	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcctgctcctccactctcaaGaactcgcgaagcttatcaaa	6	15	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:27151768G>A	ENST00000305364.4	-	3	674	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TRIM35_ENST00000521253.1_Silent_p.F165F	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	197					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F197F(1)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCACTCTCAAGAACTCGCGAA	0.577																																																	1	Substitution - coding silent(1)	lung(1)											67	59	62					8																	27151768		2203	4300	6503	SO:0001819	synonymous_variant	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.591C>T	8.37:g.27151768G>A			Q86XQ0|Q8WVA4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F197	ENST00000305364.4	37	c.591	CCDS6056.2	8																																																																																			TRIM35	-	NULL		0.577	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	G	NM_171982		27151768	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	silent	SNP	0.997	A	A	27151768	G	A	27151768	2	1	117	1	0	0	0	0	0	0	0	1	16540	933	33	1		1	TRIM35	8	27151768	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	785617	27151768	119212254	543	18011										
TRIM35	23087	genome.wustl.edu	37	chr8	27168491	27168491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctggtccagcgcgcgccctCggcctcctcgcgcagcagct	13	19	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:27168491C>T	ENST00000305364.4	-	1	345	c.262G>A	c.(262-264)Gag>Aag	p.E88K	PTK2B_ENST00000397501.1_5'Flank|PTK2B_ENST00000338238.4_5'Flank|PTK2B_ENST00000544172.1_5'Flank|TRIM35_ENST00000521253.1_Missense_Mutation_p.E88K	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	88					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CGCGCGCCCTCGGCCTCCTCG	0.682																																																	0													23	21	22					8																	27168491		2199	4299	6498	SO:0001583	missense	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.262G>A	8.37:g.27168491C>T	ENSP00000301924:p.Glu88Lys		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E88K	ENST00000305364.4	37	c.262	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868409	0.51588	.	.	ENSG00000104228	ENST00000305364;ENST00000380544;ENST00000521253	T;T	0.68025	-0.09;-0.3	5.33	3.4	0.38934	.	0.258128	0.28327	N	0.015759	T	0.34077	0.0885	N	0.08118	0	0.28338	N	0.921476	P;P	0.39737	0.557;0.685	B;B	0.25614	0.062;0.041	T	0.23726	-1.0180	10	0.14656	T	0.56	.	8.659	0.34081	0.1706:0.6645:0.1648:0.0	.	88;88	E5RGB3;Q9UPQ4	.;TRI35_HUMAN	K	88	ENSP00000301924:E88K;ENSP00000428770:E88K	ENSP00000301924:E88K	E	-	1	0	TRIM35	27224408	0.001000	0.12720	0.962000	0.40283	0.703000	0.40648	0.724000	0.25954	1.196000	0.43129	0.462000	0.41574	GAG	TRIM35	-	NULL		0.682	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	C	NM_171982		27168491	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	missense	SNP	0.570	T	T	27168491	C	T	27168491	3	4	117	1	0	0	0	0	1	0	0	0	16540	893	31	1	1243	1	TRIM35	8	27168491	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	16723	27168491	119195531	544	18012										
KIF13B	23303	genome.wustl.edu	37	chr8	28988056	28988056	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacaatcttgttacctgccgGagctggaagattcctcctgt	9	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:28988056G>A	ENST00000524189.1	-	24	3107	c.3069C>T	c.(3067-3069)ctC>ctT	p.L1023L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1023					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.L1023L(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTACCTGCCGGAGCTGGAAGA	0.393																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											127	120	122					8																	28988056		1878	4112	5990	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3069C>T	8.37:g.28988056G>A			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1023	ENST00000524189.1	37	c.3069	CCDS55217.1	8																																																																																			KIF13B	-	pfam_Kinesin-like		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	G			28988056	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28988056	G	A	28988056	2	1	117	1	0	0	0	0	0	0	0	1	8295	1161	41	1		1	KIF13B	8	28988056	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1819565	28988056	117375966	545	18013										
PURG	29942	genome.wustl.edu	37	chr8	30890108	30890108	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctttttctggatgtccactCgtttggaggccagctcctgg	11	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:30890108C>G	ENST00000475541.1	-	1	1123	c.191G>C	c.(190-192)cGa>cCa	p.R64P	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R64P	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	64						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GATGTCCACTCGTTTGGAGGC	0.607																																																	0													42	44	43					8																	30890108		2203	4300	6503	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.191G>C	8.37:g.30890108C>G	ENSP00000418721:p.Arg64Pro		Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R64P	ENST00000475541.1	37	c.191	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745429	0.69418	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.33438	1.41;1.41	4.75	3.8	0.43715	.	0.000000	0.64402	D	0.000003	T	0.44891	0.1315	M	0.72479	2.2	0.51482	D	0.999927	P;D	0.57571	0.948;0.98	P;P	0.53490	0.727;0.695	T	0.46233	-0.9206	10	0.44086	T	0.13	-0.1185	13.9644	0.64200	0.0:0.847:0.153:0.0	.	64;64	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	P	64	ENSP00000345168:R64P;ENSP00000418721:R64P	ENSP00000345168:R64P	R	-	2	0	PURG	31009650	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.462000	0.80851	2.173000	0.68751	0.313000	0.20887	CGA	PURG	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd		0.607	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	C	NM_013357		30890108	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	missense	SNP	0.990	G	G	30890108	C	G	30890108	3	3	117	1	0	0	0	0	1	0	0	0	12859	884	31	1	965	1	PURG	8	30890108	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1902052	30890108	115473914	546	18014										
MAK16	84549	genome.wustl.edu	37	chr8	33354807	33354807	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagatgagagtgacataagtGattttgaggtgagctttatg	13	2	0	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:33354807G>A	ENST00000360128.6	+	9	1154	c.697G>A	c.(697-699)Gat>Aat	p.D233N	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	233	Asp-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TGACATAAGTGATTTTGAGGT	0.383																																																	0													201	206	204					8																	33354807		2203	4300	6503	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.697G>A	8.37:g.33354807G>A	ENSP00000353246:p.Asp233Asn		B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	pfam_Mak16,pirsf_Mak16	p.D233N	ENST00000360128.6	37	c.697	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.549947	0.96501	.	.	ENSG00000198042	ENST00000360128	T	0.58506	0.33	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.83227	-0.0065	10	0.72032	D	0.01	-22.0825	19.7072	0.96079	0.0:0.0:1.0:0.0	.	233	Q9BXY0	MAK16_HUMAN	N	233	ENSP00000353246:D233N	ENSP00000353246:D233N	D	+	1	0	MAK16	33474349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.650000	0.91073	2.760000	0.94817	0.563000	0.77884	GAT	MAK16	-	pfam_Mak16,pirsf_Mak16		0.383	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	HGNC	protein_coding	OTTHUMT00000376559.3	G	NM_032509		33354807	1	no_errors	ENST00000360128	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33354807	G	A	33354807	3	1	117	1	0	0	0	0	1	0	0	0	9221	1290	45	1	731	1	MAK16	8	33354807	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2464699	33354807	113009215	547	18015										
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37730614	37730614	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagatgcctggccagagctaGaaggaagaggaggaagagag	17	6	0	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:37730614G>A	ENST00000330843.4	-	4	1718	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	569	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCAGAGCTAGAAGGAAGAGG	0.537																																																	0													66	59	61					8																	37730614		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1706C>T	8.37:g.37730614G>A	ENSP00000331342:p.Ser569Phe		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S569F	ENST00000330843.4	37	c.1706	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442384	0.43326	.	.	ENSG00000156675	ENST00000330843	T	0.15017	2.46	5.95	5.05	0.67936	.	0.389621	0.22135	N	0.064129	T	0.20495	0.0493	L	0.32530	0.975	0.29308	N	0.868226	D	0.60575	0.988	P	0.54401	0.751	T	0.08086	-1.0739	10	0.66056	D	0.02	-2.279	6.5835	0.22609	0.1136:0.1804:0.7061:0.0	.	569	Q6WKZ4	RFIP1_HUMAN	F	569	ENSP00000331342:S569F	ENSP00000331342:S569F	S	-	2	0	RAB11FIP1	37849772	0.040000	0.19996	0.002000	0.10522	0.013000	0.08279	1.791000	0.38744	1.464000	0.47987	0.655000	0.94253	TCT	RAB11FIP1	-	NULL		0.537	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	G	NM_025151		37730614	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	0.007	A	A	37730614	G	A	37730614	3	1	117	1	0	0	0	0	1	0	0	0	12923	942	33	1	2157	1	RAB11FIP1	8	37730614	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4375807	37730614	108633408	548	18016										
WHSC1L1	54904	genome.wustl.edu	37	chr8	38205256	38205256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggtgagccagtcttctttGgaatcacagtttgtggtacc	11	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:38205256G>A	ENST00000317025.8	-	2	951	c.434C>T	c.(433-435)cCa>cTa	p.P145L	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P145L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P145L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P145L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	145					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTCTTCTTTGGAATCACAGT	0.408			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													100	103	102					8																	38205256		2203	4300	6503	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.434C>T	8.37:g.38205256G>A	ENSP00000313983:p.Pro145Leu		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P145L	ENST00000317025.8	37	c.434	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369696	0.61624	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95588	-3.7;-3.75;-3.75;-0.24;0.64	5.56	5.56	0.83823	.	0.000000	0.48286	U	0.000197	D	0.94440	0.8211	M	0.66939	2.045	0.58432	D	0.999999	B;B;B;B	0.25105	0.002;0.004;0.118;0.002	B;B;B;B	0.29353	0.004;0.009;0.101;0.004	D	0.92404	0.5932	10	0.52906	T	0.07	.	14.3732	0.66854	0.0:0.0:0.8521:0.1479	.	145;145;145;145	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	145;145;82;145;145;145	ENSP00000393284:P145L;ENSP00000313983:P145L;ENSP00000434730:P145L;ENSP00000313410:P145L;ENSP00000435422:P145L	ENSP00000313410:P145L	P	-	2	0	WHSC1L1	38324413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.879000	0.69690	2.589000	0.87451	0.563000	0.77884	CCA	WHSC1L1	-	NULL		0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	G	NM_023034		38205256	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38205256	G	A	38205256	3	1	117	1	0	0	0	0	1	0	0	0	17394	1348	47	4	4058	4	WHSC1L1	8	38205256	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	474642	38205256	108158766	549	18017										
PLAT	5327	genome.wustl.edu	37	chr8	42045454	42045454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcacttcccagcaaatccttCggggcactggcacacgaaat	9	14	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:42045454C>T	ENST00000220809.4	-	5	590	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PLAT_ENST00000270189.6_Missense_Mutation_p.E112K|PLAT_ENST00000524009.1_Missense_Mutation_p.E112K|PLAT_ENST00000429089.2_Missense_Mutation_p.E112K|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.E66K|PLAT_ENST00000519510.1_Missense_Mutation_p.E112K	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	112	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCAAATCCTTCGGGGCACTGG	0.552																																																	0													113	103	106					8																	42045454		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.334G>A	8.37:g.42045454C>T	ENSP00000220809:p.Glu112Lys		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E112K	ENST00000220809.4	37	c.334	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	C	1.501	-0.551934	0.03996	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000524009;ENST00000520523;ENST00000521694	D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.73	2.55	0.30701	Kringle-like fold (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.810482	0.11749	N	0.533272	D	0.83418	0.5250	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.22003	0.006;0.063;0.021;0.007	B;B;B;B	0.16289	0.015;0.015;0.005;0.009	T	0.68599	-0.5366	10	0.07813	T	0.8	.	5.0886	0.14696	0.0:0.295:0.4351:0.2699	.	112;112;66;112	B4DN26;B4DV92;P00750-3;P00750	.;.;.;TPA_HUMAN	K	112;112;112;66;112;112;112;112	ENSP00000270189:E112K;ENSP00000392045:E112K;ENSP00000220809:E112K;ENSP00000270188:E66K;ENSP00000428886:E112K;ENSP00000429401:E112K;ENSP00000428797:E112K;ENSP00000429801:E112K	ENSP00000220809:E112K	E	-	1	0	PLAT	42164611	0.002000	0.14202	0.404000	0.26397	0.001000	0.01503	1.355000	0.34068	0.767000	0.33267	-0.175000	0.13238	GAA	PLAT	-	pfam_EG-like_dom,superfamily_Kringle-like,pfscan_EG-like_dom		0.552	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	C	NM_000930		42045454	-1	no_errors	ENST00000220809	ensembl	human	known	70_37	missense	SNP	0.000	T	T	42045454	C	T	42045454	3	4	117	1	0	0	0	0	1	0	0	0	12045	893	31	1	1394	1	PLAT	8	42045454	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3840198	42045454	104318568	550	18018										
HOOK3	84376	genome.wustl.edu	37	chr8	42780704	42780704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttcttattttgcagagatCctgcatattttgatgaaaat	6	5	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:42780704C>A	ENST00000307602.4	+	3	348	c.148C>A	c.(148-150)Cct>Act	p.P50T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	50	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTGCAGAGATCCTGCATATTT	0.294			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													73	74	74					8																	42780704		2202	4300	6502	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.148C>A	8.37:g.42780704C>A	ENSP00000305699:p.Pro50Thr		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_HOOK,superfamily_t-SNARE	p.P50T	ENST00000307602.4	37	c.148	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474122	0.84640	.	.	ENSG00000168172	ENST00000307602	T	0.55930	0.49	5.93	5.93	0.95920	.	0.244492	0.42294	D	0.000737	T	0.73094	0.3543	M	0.80183	2.485	0.58432	D	0.999997	D;B	0.56521	0.976;0.292	P;B	0.60286	0.872;0.186	T	0.75602	-0.3261	10	0.87932	D	0	-7.653	19.1758	0.93602	0.0:1.0:0.0:0.0	.	50;50	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	T	50	ENSP00000305699:P50T	ENSP00000305699:P50T	P	+	1	0	HOOK3	42899861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.617000	0.54181	2.824000	0.97209	0.650000	0.86243	CCT	HOOK3	-	pfam_HOOK		0.294	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	C	NM_032410		42780704	1	no_errors	ENST00000307602	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42780704	C	A	42780704	3	1	117	1	0	0	0	0	1	0	0	0	7304	855	30	3	158	3	HOOK3	8	42780704	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	735250	42780704	103583318	551	18019										
PRKDC	5591	genome.wustl.edu	37	chr8	48740909	48740909	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttgcaattattgggtccctCtgtaaaaaattcaaaacaaa	5	7	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:48740909C>G	ENST00000523565.1	-	62	8453		c.e62-1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTGGGTCCCTCTGTAAAAAAT	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													39	39	39					8																	48740909		1808	4063	5871	SO:0001630	splice_region_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.5056-1G>C	8.37:g.48740909C>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	-	e63-1	ENST00000523565.1	37	c.8395-1		8	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368540	0.82463	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9997	0.97405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48903462	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	7.197000	0.77814	2.813000	0.96785	0.655000	0.94253	.	PRKDC	-	-		0.323	PRKDC-002	KNOWN	basic	processed_transcript	PRKDC	HGNC	protein_coding	OTTHUMT00000377896.1	C	NM_001081640	Intron	48740909	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	48740909	C	G	48740909	5	3	117	1	0	0	0	0	0	0	1	0	12548	927	32	1	4089	1	PRKDC	8	48740909	Splice_Site	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5960205	48740909	97623113	552	18020										
RGS20	8601	genome.wustl.edu	37	chr8	54870854	54870854	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcttagactcccgggtgagaGaagtgatcaacagaaacatg	12	8	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:54870854G>C	ENST00000297313.3	+	6	1095	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	RGS20_ENST00000344277.6_Missense_Mutation_p.E220Q|RGS20_ENST00000276500.4_Missense_Mutation_p.E188Q|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.E69Q	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	335	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CCGGGTGAGAGAAGTGATCAA	0.463																																																	0													143	120	128					8																	54870854		2203	4300	6503	SO:0001583	missense	8601			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.1003G>C	8.37:g.54870854G>C	ENSP00000297313:p.Glu335Gln		Q96BG9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E335Q	ENST00000297313.3	37	c.1003	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763538	0.89932	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.07	5.07	0.68467	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.046403	0.85682	D	0.000000	T	0.11452	0.0279	M	0.75884	2.315	0.80722	D	1	P;P;P;P;D	0.54772	0.846;0.846;0.918;0.918;0.968	P;P;P;P;P	0.60012	0.684;0.777;0.867;0.81;0.866	T	0.00538	-1.1682	10	0.62326	D	0.03	.	18.4535	0.90712	0.0:0.0:1.0:0.0	.	99;127;188;220;335	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	Q	335;220;69;188	ENSP00000297313:E335Q;ENSP00000344630:E220Q;ENSP00000430627:E69Q;ENSP00000276500:E188Q	ENSP00000276500:E188Q	E	+	1	0	RGS20	55033407	1.000000	0.71417	0.970000	0.41538	0.618000	0.37518	9.747000	0.98863	2.325000	0.78763	0.557000	0.71058	GAA	RGS20	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.463	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1	G			54870854	1	no_errors	ENST00000297313	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54870854	G	C	54870854	3	2	117	1	0	0	0	0	1	0	0	0	13333	943	33	1	1098	1	RGS20	8	54870854	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6129945	54870854	91493168	553	18021										
CYP7A1	1581	genome.wustl.edu	37	chr8	59405044	59405044	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccttagctgtccggatgttGagggaggcactggaaagcct	14	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:59405044G>A	ENST00000301645.3	-	5	1220	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	361					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L361L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCCGGATGTTGAGGGAGGCAC	0.408									Neonatal Giant Cell Hepatitis																																								1	Substitution - coding silent(1)	breast(1)											119	108	111					8																	59405044		2203	4300	6503	SO:0001819	synonymous_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1083C>T	8.37:g.59405044G>A			P78454|Q3MIL8|Q7KZ19	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L361	ENST00000301645.3	37	c.1083	CCDS6171.1	8																																																																																			CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.408	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	G	NM_000780		59405044	-1	no_errors	ENST00000301645	ensembl	human	known	70_37	silent	SNP	0.999	A	A	59405044	G	A	59405044	2	1	117	1	0	0	0	0	0	0	0	1	4201	1277	45	1		1	CYP7A1	8	59405044	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4534190	59405044	86958978	554	18022										
MTFR1	9650	genome.wustl.edu	37	chr8	66617086	66617086	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactgcagaagatttgcgctCtcgaaaatgaacttgctgct	9	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:66617086C>T	ENST00000262146.4	+	5	565	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	MTFR1_ENST00000458689.2_Missense_Mutation_p.L114F|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	147					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTTGCGCTCTCGAAAATGA	0.488																																																	0													39	40	40					8																	66617086		2203	4300	6503	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.439C>T	8.37:g.66617086C>T	ENSP00000262146:p.Leu147Phe		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.L147F	ENST00000262146.4	37	c.439	CCDS6182.1	8	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539933	0.85917	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689	T;T	0.66815	-0.23;-0.23	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.87724	0.2575	10	0.87932	D	0	6.1019	13.4628	0.61237	0.0:0.9249:0.0:0.0751	.	147;131;114;147	B4E3G8;E5RJS5;E7EP84;Q15390	.;.;.;MTFR1_HUMAN	F	131;147;114	ENSP00000262146:L147F;ENSP00000391502:L114F	ENSP00000262146:L147F	L	+	1	0	MTFR1	66779640	0.999000	0.42202	0.989000	0.46669	0.914000	0.54420	4.235000	0.58666	2.517000	0.84864	0.563000	0.77884	CTC	MTFR1	-	pfam_Mtfr1		0.488	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	C	NM_014637		66617086	1	no_errors	ENST00000262146	ensembl	human	known	70_37	missense	SNP	0.995	T	T	66617086	C	T	66617086	3	4	117	1	0	0	0	0	1	0	0	0	9948	913	32	1	453	1	MTFR1	8	66617086	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7212042	66617086	79746936	555	18023										
TCEB1	6921	genome.wustl.edu	37	chr8	74868231	74868231	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcatggccatcagatgatatCaatttgacatacatggcatc	7	9	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:74868231C>T	ENST00000522337.1	-	4	382	c.63G>A	c.(61-63)ttG>ttA	p.L21L	TCEB1_ENST00000520242.1_Silent_p.L21L|TCEB1_ENST00000518127.1_Silent_p.L21L|TCEB1_ENST00000519487.1_Silent_p.L21L|TCEB1_ENST00000602840.1_Silent_p.L21L|TCEB1_ENST00000520210.1_Silent_p.L5L|TCEB1_ENST00000523815.1_Silent_p.L21L|TCEB1_ENST00000284811.8_Silent_p.L21L			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	21					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			CAGATGATATCAATTTGACAT	0.398																																																	0													81	74	76					8																	74868231		2203	4300	6503	SO:0001819	synonymous_variant	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.63G>A	8.37:g.74868231C>T			E5RGD9|Q567Q6	Silent	SNP	pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp	p.L21	ENST00000522337.1	37	c.63	CCDS34910.1	8																																																																																			TCEB1	-	pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp		0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TCEB1	HGNC	protein_coding	OTTHUMT00000379020.1	C	NM_005648		74868231	-1	no_errors	ENST00000520242	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74868231	C	T	74868231	2	4	117	1	0	0	0	0	0	0	0	1	15709	825	29	1		1	TCEB1	8	74868231	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8251145	74868231	71495791	556	18024										
ZFHX4	79776	genome.wustl.edu	37	chr8	77754902	77754902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttaacagaagaacaaagtGaggaggcagaaggagctatt	12	5	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:77754902G>A	ENST00000521891.2	+	6	3854	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	ZFHX4_ENST00000050961.6_Splice_Site_p.E1101K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1110K|ZFHX4_ENST00000455469.2_Splice_Site_p.E1101K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAACAAAGTGAGGAGGCAGA	0.418										HNSCC(33;0.089)																																							0													62	63	63					8																	77754902		1854	4046	5900	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3406G>A	8.37:g.77754902G>A	ENSP00000430497:p.Glu1136Lys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E1136K	ENST00000521891.2	37	c.3406	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185675	0.57909	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50548	0.74;0.77;0.75;0.75	4.8	4.8	0.61643	.	0.000000	0.42821	U	0.000657	T	0.57257	0.2041	M	0.63428	1.95	0.54753	D	0.999985	D;D;D	0.58268	0.97;0.982;0.982	P;P;P	0.55615	0.607;0.78;0.78	T	0.52719	-0.8538	10	0.09338	T	0.73	.	18.0481	0.89338	0.0:0.0:1.0:0.0	.	1101;1101;1136	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	1136;1136;1101;1101;1110	ENSP00000430497:E1136K;ENSP00000399605:E1101K;ENSP00000050961:E1101K;ENSP00000430848:E1110K	ENSP00000050961:E1101K	E	+	1	0	ZFHX4	77917457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.208000	0.89748	2.498000	0.84270	0.650000	0.86243	GAG	ZFHX4	-	NULL		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77754902	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77754902	G	A	77754902	3	1	117	1	0	0	0	0	1	0	0	0	17665	1291	45	1	3424	1	ZFHX4	8	77754902	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2886671	77754902	68609120	557	18025										
MMP16	4325	genome.wustl.edu	37	chr8	89180138	89180138	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agttacattctgccacacatCaaaggcacggcgaatagctt	8	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:89180138C>G	ENST00000286614.6	-	4	750	c.469G>C	c.(469-471)Gat>Cat	p.D157H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	157					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCCACACATCAAAGGCACGG	0.368																																																	0													111	100	104					8																	89180138		2203	4300	6503	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.469G>C	8.37:g.89180138C>G	ENSP00000286614:p.Asp157His		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D157H	ENST00000286614.6	37	c.469	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259120	0.80246	.	.	ENSG00000156103	ENST00000286614	T	0.53206	0.63	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.65498	2.005	0.80722	D	1	D;B	0.89917	1.0;0.192	D;B	0.72338	0.977;0.235	T	0.67150	-0.5743	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	157;157	P51512-2;P51512	.;MMP16_HUMAN	H	157	ENSP00000286614:D157H	ENSP00000286614:D157H	D	-	1	0	MMP16	89249254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.754000	0.85163	2.937000	0.99478	0.650000	0.86243	GAT	MMP16	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	C	NM_005941		89180138	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89180138	C	G	89180138	3	3	117	1	0	0	0	0	1	0	0	0	9678	826	29	1	1538	1	MMP16	8	89180138	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	11425236	89180138	57183884	558	18026										
CDH17	1015	genome.wustl.edu	37	chr8	95164299	95164299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctcaggattttctgctttGaacacaatgttggaaacagc	10	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:95164299G>C	ENST00000027335.3	-	13	1717	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L	CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.F531F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTCTGCTTTGAACACAATGT	0.398																																																	1	Substitution - coding silent(1)	skin(1)											94	91	92					8																	95164299		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1593C>G	8.37:g.95164299G>C	ENSP00000027335:p.Phe531Leu		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F531L	ENST00000027335.3	37	c.1593	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747738	0.49257	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.34667	1.35;1.35;1.35	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.508000	0.18395	N	0.142540	T	0.20251	0.0487	N	0.11673	0.155	0.37081	D	0.898993	B;B	0.23990	0.067;0.095	B;B	0.25405	0.06;0.032	T	0.19484	-1.0304	10	0.19590	T	0.45	-0.9804	11.0654	0.47972	0.0846:0.0:0.9154:0.0	.	317;531	E7EN24;Q12864	.;CAD17_HUMAN	L	531;317;531	ENSP00000027335:F531L;ENSP00000392811:F317L;ENSP00000401468:F531L	ENSP00000027335:F531L	F	-	3	2	CDH17	95233475	0.990000	0.36364	0.947000	0.38551	0.984000	0.73092	1.754000	0.38369	2.836000	0.97738	0.655000	0.94253	TTC	CDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	G	NM_004063		95164299	-1	no_errors	ENST00000027335	ensembl	human	known	70_37	missense	SNP	0.986	C	C	95164299	G	C	95164299	3	2	117	1	0	0	0	0	1	0	0	0	3107	1281	45	1	929	1	CDH17	8	95164299	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5984161	95164299	51199723	559	18027										
KIAA1429	25962	genome.wustl.edu	37	chr8	95539477	95539477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catatgtcataggaggaactGaagctaagtcttcagcagtg	11	7	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:95539477G>A	ENST00000297591.5	-	8	1070	c.995C>T	c.(994-996)tCa>tTa	p.S332L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S332L|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S332L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	332					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGAGGAACTGAAGCTAAGTC	0.368																																																	0													90	90	90					8																	95539477		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.995C>T	8.37:g.95539477G>A	ENSP00000297591:p.Ser332Leu		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S332L	ENST00000297591.5	37	c.995	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	14.29	2.489889	0.44249	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46819	0.87;0.87;0.86	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.60455	1.87	0.58432	D	0.999999	P;B	0.37330	0.59;0.447	B;B	0.33690	0.168;0.168	T	0.37478	-0.9704	10	0.33141	T	0.24	-14.0154	16.1152	0.81302	0.0:0.1336:0.8664:0.0	.	332;332	Q69YN4-4;Q69YN4	.;VIR_HUMAN	L	332	ENSP00000297591:S332L;ENSP00000395600:S332L;ENSP00000398390:S332L	ENSP00000297591:S332L	S	-	2	0	KIAA1429	95608653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.689000	0.91719	0.491000	0.48974	TCA	KIAA1429	-	NULL		0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	G	NM_015496		95539477	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95539477	G	A	95539477	3	1	117	1	0	0	0	0	1	0	0	0	8251	1294	45	1	4565	1	KIAA1429	8	95539477	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	375178	95539477	50824545	560	18028										
VPS13B	157680	genome.wustl.edu	37	chr8	100108604	100108604	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgctgagagcacaaaatcatCaatcaaaccgcggagaatgc	9	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:100108604C>G	ENST00000358544.2	+	4	467	c.356C>G	c.(355-357)tCa>tGa	p.S119*	CTD-2340D6.2_ENST00000520844.1_RNA|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.S119*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.S119*|VPS13B_ENST00000395996.1_Nonsense_Mutation_p.S119*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.S119*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	119					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAAATCATCAATCAAACCG	0.388																																					Colon(161;2205 2542 7338 31318)												0													88	85	86					8																	100108604		2203	4300	6503	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.356C>G	8.37:g.100108604C>G	ENSP00000351346:p.Ser119*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S119*	ENST00000358544.2	37	c.356	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849056	0.91277	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	.	.	.	5.87	5.87	0.94306	.	0.327551	0.26991	N	0.021477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	.	.	.	X	119	.	ENSP00000347281:S119X	S	+	2	0	VPS13B	100177780	1.000000	0.71417	0.974000	0.42286	0.882000	0.50991	2.848000	0.48278	2.775000	0.95449	0.650000	0.86243	TCA	VPS13B	-	NULL		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100108604	1	no_errors	ENST00000358544	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	100108604	C	G	100108604	4	3	117	1	0	0	0	0	0	1	0	0	17221	838	29	1	366	1	VPS13B	8	100108604	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4569127	100108604	46255418	561	18029										
VPS13B	157680	genome.wustl.edu	37	chr8	100711817	100711817	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtttcaccaaactggatcaGataaacctttttttaaagaa	5	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:100711817G>C	ENST00000358544.2	+	36	6297	c.6186G>C	c.(6184-6186)caG>caC	p.Q2062H	VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2037H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2062					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACTGGATCAGATAAACCTTT	0.353																																					Colon(161;2205 2542 7338 31318)												0													54	58	57					8																	100711817		2203	4299	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6186G>C	8.37:g.100711817G>C	ENSP00000351346:p.Gln2062His		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q2062H	ENST00000358544.2	37	c.6186	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010195	0.54361	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.74632	-0.86;-0.86	5.58	1.1	0.20463	.	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.75969	-0.3130	10	0.72032	D	0.01	.	8.1578	0.31180	0.5885:0.0:0.4115:0.0	.	2037;2062	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	2037;2062	ENSP00000349685:Q2037H;ENSP00000351346:Q2062H	ENSP00000349685:Q2037H	Q	+	3	2	VPS13B	100780993	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	1.808000	0.38912	0.268000	0.21939	0.655000	0.94253	CAG	VPS13B	-	NULL		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100711817	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	0.996	C	C	100711817	G	C	100711817	3	2	117	1	0	0	0	0	1	0	0	0	17221	933	33	1	6518	1	VPS13B	8	100711817	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	603213	100711817	45652205	562	18030										
RGS22	26166	genome.wustl.edu	37	chr8	101084453	101084453	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttaataccttcttcacgactGagacactatgagaagaaaga	7	8	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:101084453G>C	ENST00000360863.6	-	5	539	c.345C>G	c.(343-345)ctC>ctG	p.L115L	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.L115L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	115					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCACGACTGAGACACTATG	0.353																																																	0													89	80	82					8																	101084453		1810	4081	5891	SO:0001819	synonymous_variant	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.345C>G	8.37:g.101084453G>C			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.L115	ENST00000360863.6	37	c.345	CCDS43758.1	8																																																																																			RGS22	-	NULL		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	G	NM_015668		101084453	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	silent	SNP	0.985	C	C	101084453	G	C	101084453	2	2	117	1	0	0	0	0	0	0	0	1	13335	1277	45	1		1	RGS22	8	101084453	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	372636	101084453	45279569	563	18031										
UBR5	51366	genome.wustl.edu	37	chr8	103358595	103358595	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttctcgaataatgacacttCtggatttgccttgtaaaaca	7	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:103358595C>T	ENST00000520539.1	-	7	1211	c.605G>A	c.(604-606)aGa>aAa	p.R202K	UBR5_ENST00000220959.4_Missense_Mutation_p.R202K|UBR5_ENST00000521922.1_Missense_Mutation_p.R202K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	202					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATGACACTTCTGGATTTGCC	0.333																																					Ovarian(131;96 1741 5634 7352 27489)												0													92	88	89					8																	103358595		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.605G>A	8.37:g.103358595C>T	ENSP00000429084:p.Arg202Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R202K	ENST00000520539.1	37	c.605	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.721807	0.96839	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.79940	-1.27;-1.27;-1.32	5.47	5.47	0.80525	E3 ubiquitin ligase EDD, ubiquitin-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	L	0.57536	1.79	0.80722	D	1	P;P	0.49185	0.92;0.92	D;D	0.63957	0.92;0.92	D	0.88444	0.3044	10	0.87932	D	0	.	19.6975	0.96031	0.0:1.0:0.0:0.0	.	202;202	E7EMW7;O95071	.;UBR5_HUMAN	K	202	ENSP00000429084:R202K;ENSP00000220959:R202K;ENSP00000427819:R202K	ENSP00000220959:R202K	R	-	2	0	UBR5	103427771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.718000	0.84743	2.729000	0.93468	0.557000	0.71058	AGA	UBR5	-	pfam_E3_UbLigase_EDD_UBA		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103358595	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103358595	C	T	103358595	3	4	117	1	0	0	0	0	1	0	0	0	16936	913	32	1	8006	1	UBR5	8	103358595	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2274142	103358595	43005427	564	18032										
CSMD3	114788	genome.wustl.edu	37	chr8	113277728	113277728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattccatcgtgtagcctggCtggcacatgtaagaaacatt	9	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:113277728C>A	ENST00000297405.5	-	60	9844	c.9600G>T	c.(9598-9600)caG>caT	p.Q3200H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3160H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3130H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3031H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3200	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTAGCCTGGCTGGCACATGT	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													206	172	184					8																	113277728		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9600G>T	8.37:g.113277728C>A	ENSP00000297405:p.Gln3200His		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q3200H	ENST00000297405.5	37	c.9600	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883690	0.51908	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.44	3.65	0.41850	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.63534	0.2519	L	0.31157	0.91	0.44129	D	0.996912	D;D;D	0.71674	0.997;0.998;0.994	D;D;P	0.87578	0.998;0.998;0.879	T	0.57365	-0.7824	10	0.20519	T	0.43	.	8.4935	0.33115	0.0:0.7048:0.0:0.2952	.	3031;3200;3160	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3160;3200;2470;3031;3130	ENSP00000345799:Q3160H;ENSP00000297405:Q3200H;ENSP00000341558:Q2470H;ENSP00000412263:Q3031H;ENSP00000343124:Q3130H	ENSP00000297405:Q3200H	Q	-	3	2	CSMD3	113346904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.816000	0.27267	0.788000	0.33755	0.585000	0.79938	CAG	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113277728	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113277728	C	A	113277728	3	1	117	1	0	0	0	0	1	0	0	0	3951	796	28	4	1571	4	CSMD3	8	113277728	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9919133	113277728	33086294	565	18033										
CSMD3	114788	genome.wustl.edu	37	chr8	113332155	113332155	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaaattcatcatcttccgtCaaaatttcagcattgggcac	5	11	6	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:113332155C>T	ENST00000297405.5	-	46	7465	c.7221G>A	c.(7219-7221)ttG>ttA	p.L2407L	CSMD3_ENST00000343508.3_Silent_p.L2367L|CSMD3_ENST00000352409.3_Silent_p.L2337L|CSMD3_ENST00000455883.2_Silent_p.L2303L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2407	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2367L(1)|p.L2407L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCTTCCGTCAAAATTTCAG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - coding silent(2)	lung(2)											124	126	125					8																	113332155		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7221G>A	8.37:g.113332155C>T			Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2407	ENST00000297405.5	37	c.7221	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113332155	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113332155	C	T	113332155	2	4	117	1	0	0	0	0	0	0	0	1	3951	825	29	1		1	CSMD3	8	113332155	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	54427	113332155	33031867	566	18034										
CSMD3	114788	genome.wustl.edu	37	chr8	114186060	114186060	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagttacacagctgtagcgGatcttgtccccgacgtcgaa	10	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:114186060G>C	ENST00000297405.5	-	4	844	c.600C>G	c.(598-600)atC>atG	p.I200M	CSMD3_ENST00000343508.3_Missense_Mutation_p.I160M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I200M|CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000455883.2_Missense_Mutation_p.I200M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	200	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTGTAGCGGATCTTGTCCC	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													135	121	126					8																	114186060		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.600C>G	8.37:g.114186060G>C	ENSP00000297405:p.Ile200Met		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.I200M	ENST00000297405.5	37	c.600	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154242	0.57259	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.1	-2.61	0.06171	Complement control module (2);Sushi/SCR/CCP (3);	0.096276	0.39274	N	0.001411	T	0.71558	0.3354	M	0.80028	2.48	0.25108	N	0.990736	P;P;D;D	0.55385	0.899;0.95;0.966;0.971	P;P;P;P	0.58331	0.495;0.735;0.787;0.837	T	0.64368	-0.6424	10	0.72032	D	0.01	.	4.5488	0.12098	0.4504:0.0:0.3066:0.243	.	200;200;200;160	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	M	160;200;200;200	ENSP00000345799:I160M;ENSP00000297405:I200M;ENSP00000412263:I200M;ENSP00000343124:I200M	ENSP00000297405:I200M	I	-	3	3	CSMD3	114255236	0.993000	0.37304	0.978000	0.43139	0.971000	0.66376	0.264000	0.18497	-0.531000	0.06340	-0.150000	0.13652	ATC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		114186060	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	0.956	C	C	114186060	G	C	114186060	3	2	117	1	0	0	0	0	1	0	0	0	3951	1164	41	1	10795	1	CSMD3	8	114186060	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	853905	114186060	32177962	567	18035										
FER1L6	654463	genome.wustl.edu	37	chr8	125035755	125035755	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agagtggcctatgcccgcatCgcctccaaagacctcctcta	8	16	1	2	rs567278064		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:125035755C>T	ENST00000522917.1	+	18	2411	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I735I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	735						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCCGCATCGCCTCCAAAG	0.517																																																	0													97	100	99					8																	125035755		1970	4159	6129	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2205C>T	8.37:g.125035755C>T				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I735	ENST00000522917.1	37	c.2205	CCDS43767.1	8																																																																																			FER1L6	-	pfam_Ferlin_B-domain		0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	C	NM_001039112		125035755	1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.009	T	T	125035755	C	T	125035755	2	4	117	1	0	0	0	0	0	0	0	1	5833	874	31	1		1	FER1L6	8	125035755	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10849695	125035755	21328267	568	18036										
ADCY8	114	genome.wustl.edu	37	chr8	132002735	132002735	+	Silent	SNP	G	G	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcccggtctgacaggtaactGatgaagattccagctgtgtt							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:132002735G>T	ENST00000286355.5	-	2	3106	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	ADCY8_ENST00000377928.3_Silent_p.I338I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	338					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACAGGTAACTGATGAAGATTC	0.512										HNSCC(32;0.087)																																							0													130	137	135					8																	132002735		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1014C>A	8.37:g.132002735G>T				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I338	ENST00000286355.5	37	c.1014	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132002735	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132002735	G	T	132002735	2	4	117	1	0	0	0	0	0	0	0	1	300	1280	45	3		3	ADCY8	8	132002735	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6966980	132002735	14361287	569	18037	98	2								
ADCY8	114	genome.wustl.edu	37	chr8	132002738	132002738	+	Silent	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggtctgacaggtaactgatGaagattccagctgtgttcat					rs574355981		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:132002738G>A	ENST00000286355.5	-	2	3103	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ADCY8_ENST00000377928.3_Silent_p.F337F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	337					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTAACTGATGAAGATTCCAG	0.512										HNSCC(32;0.087)			G|||	1	0.000199681	8e-04	0	5008	,	,		17917	0		0	False		,,,				2504	0																0													130	137	135					8																	132002738		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1011C>T	8.37:g.132002738G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F337	ENST00000286355.5	37	c.1011	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132002738	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132002738	G	A	132002738	2	1	117	1	0	0	0	0	0	0	0	1	300	1281	45	1		1	ADCY8	8	132002738	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3	132002738	14361284	570	18038	98	2								
PHF20L1	51105	genome.wustl.edu	37	chr8	133848895	133848895	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attttgaggaatctcaggatGaggatgatgctcttaatgaa	11	4	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:133848895G>T	ENST00000395386.2	+	16	2319	c.2020G>T	c.(2020-2022)Gag>Tag	p.E674*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E649*|PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.E61*|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	674							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCTCAGGATGAGGATGATGC	0.398																																																	0													192	183	186					8																	133848895		1954	4139	6093	SO:0001587	stop_gained	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2020G>T	8.37:g.133848895G>T	ENSP00000378784:p.Glu674*		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.E61*	ENST00000395386.2	37	c.181	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	39	7.706563	0.98444	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.14	5.14	0.70334	.	1.294060	0.05499	U	0.558000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-33.3097	17.96	0.89082	0.0:0.0:1.0:0.0	.	.	.	.	X	674;61;649	.	ENSP00000220847:E61X	E	+	1	0	PHF20L1	133918077	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.791000	0.69045	2.560000	0.86352	0.544000	0.68410	GAG	PHF20L1	-	superfamily_Znf_FYVE_PHD		0.398	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133848895	1	no_errors	ENST00000220847	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	133848895	G	T	133848895	4	4	117	1	0	0	0	0	0	1	0	0	11856	1291	45	3	2174	3	PHF20L1	8	133848895	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1846157	133848895	12515127	571	18039										
TG	7038	genome.wustl.edu	37	chr8	134146988	134146988	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggctggatctgggctaagaGaagatctcctaagcctccag	12	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:134146988G>A	ENST00000220616.4	+	48	8297	c.8257G>A	c.(8257-8259)Gaa>Aaa	p.E2753K	TG_ENST00000377869.1_Missense_Mutation_p.E2696K|TG_ENST00000519543.1_Missense_Mutation_p.E886K|TG_ENST00000542445.1_Missense_Mutation_p.E1123K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2753					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGGCTAAGAGAAGATCTCCT	0.567																																																	0													107	92	97					8																	134146988		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8257G>A	8.37:g.134146988G>A	ENSP00000220616:p.Glu2753Lys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E2753K	ENST00000220616.4	37	c.8257	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.094055|2.094055	0.36952|0.36952	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|T	0.69175|0.65732	-0.15;-0.15;-0.38;-0.38;0.76|-0.17	4.22|4.22	2.19|2.19	0.27852|0.27852	.|.	2.609560|.	0.01393|.	N|.	0.013328|.	T|T	0.51601|0.51601	0.1684|0.1684	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.34103|.	0.437;0.4;0.437|.	B;B;B|.	0.30855|.	0.079;0.121;0.079|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|6	0.62326|.	D|.	0.03|.	.|.	9.8872|9.8872	0.41268|0.41268	0.0:0.4095:0.5905:0.0|0.0:0.4095:0.5905:0.0	.|.	886;1123;2753|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	K|K	2696;1559;2753;872;1123;886;157|1208	ENSP00000367100:E2696K;ENSP00000220616:E2753K;ENSP00000441693:E1123K;ENSP00000430430:E886K;ENSP00000430161:E157K|ENSP00000430523:R1208K	ENSP00000220616:E2753K|.	E|R	+|+	1|2	0|0	TG|TG	134216170|134216170	0.012000|0.012000	0.17670|0.17670	0.012000|0.012000	0.15200|0.15200	0.066000|0.066000	0.16364|0.16364	1.070000|1.070000	0.30653|0.30653	1.084000|1.084000	0.41184|0.41184	0.313000|0.313000	0.20887|0.20887	GAA|AGA	TG	-	pirsf_Thyroglobulin		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		134146988	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.002	A	A	134146988	G	A	134146988	3	1	117	1	0	0	0	0	1	0	0	0	15843	943	33	1	8447	1	TG	8	134146988	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	298093	134146988	12217034	572	18040										
CHRAC1	54108	genome.wustl.edu	37	chr8	141525317	141525317	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggagaatgacaatgataatGaaagtgaccatgatgaagct	11	4	0	7			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141525317G>C	ENST00000220913.5	+	3	569	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	123					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CAATGATAATGAAAGTGACCA	0.388																																																	0													113	109	111					8																	141525317		2203	4300	6503	SO:0001583	missense	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.367G>C	8.37:g.141525317G>C	ENSP00000220913:p.Glu123Gln			Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.E123Q	ENST00000220913.5	37	c.367	CCDS6379.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.060|8.060	0.767918|0.767918	0.15983|0.15983	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000220913|ENST00000519618	T|.	0.36520|.	1.25|.	4.32|4.32	2.49|2.49	0.30216|0.30216	.|.	0.503248|.	0.17471|.	N|.	0.173092|.	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.08118|0.08118	0|0	0.19775|0.19775	N|N	0.999955|0.999955	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.15499|.	T|.	0.54|.	-7.5277|-7.5277	8.8688|8.8688	0.35303|0.35303	0.0839:0.1511:0.765:0.0|0.0839:0.1511:0.765:0.0	.|.	123|.	Q9NRG0|.	CHRC1_HUMAN|.	Q|I	123|88	ENSP00000220913:E123Q|.	ENSP00000220913:E123Q|.	E|M	+|+	1|3	0|0	CHRAC1|CHRAC1	141594499|141594499	0.427000|0.427000	0.25514|0.25514	0.000000|0.000000	0.03702|0.03702	0.101000|0.101000	0.19017|0.19017	3.236000|3.236000	0.51336|0.51336	0.439000|0.439000	0.26476|0.26476	-0.300000|-0.300000	0.09419|0.09419	GAA|ATG	CHRAC1	-	NULL		0.388	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRAC1	HGNC	protein_coding	OTTHUMT00000377816.1	G	NM_017444		141525317	1	no_errors	ENST00000220913	ensembl	human	known	70_37	missense	SNP	0.003	C	C	141525317	G	C	141525317	3	2	117	1	0	0	0	0	1	0	0	0	3376	1291	45	1	377	1	CHRAC1	8	141525317	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7378329	141525317	4838705	573	18041										
EIF2C2	27161	genome.wustl.edu	37	chr8	141566014	141566014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgcccccgtagaggatgGagggcggctgcagcacccgc	15	16	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141566014G>T	ENST00000220592.5	-	10	1362	c.1250C>A	c.(1249-1251)tCc>tAc	p.S417Y	AGO2_ENST00000519980.1_Missense_Mutation_p.S417Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	417					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GTAGAGGATGGAGGGCGGCTG	0.602																																																	0													59	54	56					8																	141566014		2203	4300	6503	SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1250C>A	8.37:g.141566014G>T	ENSP00000220592:p.Ser417Tyr		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.S417Y	ENST00000220592.5	37	c.1250	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444088	0.63067	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.05199	3.48;3.48	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	L	0.36672	1.1	0.80722	D	1	P;P	0.40282	0.711;0.587	B;B	0.42282	0.382;0.308	T	0.39461	-0.9613	10	0.19590	T	0.45	-16.1301	19.6058	0.95582	0.0:0.0:1.0:0.0	.	417;417	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	Y	417	ENSP00000220592:S417Y;ENSP00000430176:S417Y	ENSP00000220592:S417Y	S	-	2	0	EIF2C2	141635196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.052000	0.57420	2.722000	0.93159	0.655000	0.94253	TCC	EIF2C2	-	NULL		0.602	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	G			141566014	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141566014	G	T	141566014	3	4	117	1	0	0	0	0	1	0	0	0	5016	1174	41	3	1369	3	EIF2C2	8	141566014	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	40697	141566014	4798008	574	18042										
EIF2C2	27161	genome.wustl.edu	37	chr8	141572715	141572715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atccttgccttctcctggcaGcgtgacctccagctccacct	7	18	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141572715G>A	ENST00000220592.5	-	4	467	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	AGO2_ENST00000519980.1_Silent_p.L119L	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	119					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCTCCTGGCAGCGTGACCTCC	0.612																																																	0													168	126	140					8																	141572715		2203	4300	6503	SO:0001819	synonymous_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.355C>T	8.37:g.141572715G>A			Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L119	ENST00000220592.5	37	c.355	CCDS6380.1	8																																																																																			EIF2C2	-	superfamily_PAZ		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	G			141572715	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	silent	SNP	0.303	A	A	141572715	G	A	141572715	2	1	117	1	0	0	0	0	0	0	0	1	5016	962	34	4		4	EIF2C2	8	141572715	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6701	141572715	4791307	575	18043										
SCRIB	23513	genome.wustl.edu	37	chr8	144889724	144889724	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agagcgagcagtacagacctCttcctcctcaatgcgagcag	10	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:144889724C>G	ENST00000320476.3	-	16	2182	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	SCRIB_ENST00000356994.2_Missense_Mutation_p.E726Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.E645Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	726	Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTACAGACCTCTTCCTCCTCA	0.622																																					Pancreas(51;966 1133 10533 14576 29674)												0													178	143	155					8																	144889724		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2176G>C	8.37:g.144889724C>G	ENSP00000322938:p.Glu726Gln		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E726Q	ENST00000320476.3	37	c.2176	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	c	22.1	4.238312	0.79800	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.17691	2.26;2.26;2.26	4.18	4.18	0.49190	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.27629	0.0679	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.03259	-1.1055	9	0.10636	T	0.68	.	15.5191	0.75851	0.0:1.0:0.0:0.0	.	726;726	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	726;726;645;95	ENSP00000349486:E726Q;ENSP00000322938:E726Q;ENSP00000366756:E645Q	ENSP00000322938:E726Q	E	-	1	0	SCRIB	144961712	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.425000	0.80255	1.892000	0.54788	0.550000	0.68814	GAG	SCRIB	-	superfamily_PDZ		0.622	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144889724	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144889724	C	G	144889724	3	3	117	1	0	0	0	0	1	0	0	0	13967	922	32	1	2879	1	SCRIB	8	144889724	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3317009	144889724	1474298	576	18044										
PLEC	5339	genome.wustl.edu	37	chr8	144998486	144998486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgctggaaggcctcgtcctCcgccagccgccgcaggcgct	13	19	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:144998486C>T	ENST00000322810.4	-	31	6191	c.6022G>A	c.(6022-6024)Gag>Aag	p.E2008K	PLEC_ENST00000398774.2_Missense_Mutation_p.E1839K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1898K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1871K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1875K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1894K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1849K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1871K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1857K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2008	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCGTCCTCCGCCAGCCGC	0.711																																																	0													6	8	7					8																	144998486		1466	3319	4785	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6022G>A	8.37:g.144998486C>T	ENSP00000323856:p.Glu2008Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2008K	ENST00000322810.4	37	c.6022	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380073	0.61845	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000011	D	0.93996	0.8077	L	0.44542	1.39	0.53688	D	0.999976	D;D;D;D;D;D;D;D	0.76494	0.994;0.999;0.999;0.998;0.994;0.994;0.999;0.99	D;D;D;D;D;D;D;D	0.85130	0.992;0.995;0.996;0.989;0.992;0.992;0.997;0.98	D	0.94449	0.7665	10	0.56958	D	0.05	.	15.9887	0.80183	0.0:1.0:0.0:0.0	.	1898;1857;1849;2008;1839;1871;1875;1871	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1871;1875;1871;1839;2008;1849;1857;1898;1894	ENSP00000344848:E1871K;ENSP00000350277:E1875K;ENSP00000346602:E1871K;ENSP00000381756:E1839K;ENSP00000323856:E2008K;ENSP00000347044:E1849K;ENSP00000348702:E1857K;ENSP00000388180:E1898K;ENSP00000434583:E1894K	ENSP00000323856:E2008K	E	-	1	0	PLEC	145070474	0.911000	0.30947	0.214000	0.23707	0.928000	0.56348	3.770000	0.55310	2.101000	0.63845	0.549000	0.68633	GAG	PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144998486	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144998486	C	T	144998486	3	4	117	1	0	0	0	0	1	0	0	0	12076	864	30	1	8040	1	PLEC	8	144998486	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	108762	144998486	1365536	577	18045										
PLEC	5339	genome.wustl.edu	37	chr8	145004320	145004320	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccgccacccacctggtgacGgcctcctgggcctcctggtt	11	19	0	1	rs201827413		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145004320G>C	ENST00000322810.4	-	21	3184	c.3015C>G	c.(3013-3015)gcC>gcG	p.A1005A	PLEC_ENST00000398774.2_Silent_p.A836A|PLEC_ENST00000436759.2_Silent_p.A895A|PLEC_ENST00000354589.3_Silent_p.A868A|PLEC_ENST00000357649.2_Silent_p.A872A|PLEC_ENST00000527096.1_Silent_p.A891A|PLEC_ENST00000354958.2_Silent_p.A846A|PLEC_ENST00000345136.3_Silent_p.A868A|PLEC_ENST00000356346.3_Silent_p.A854A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1005	Globular 1.		Missing (in MD-EBS). {ECO:0000269|PubMed:8894687}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTGGTGACGGCCTCCTGGG	0.731																																																	0			GRCh37	CD962126	PLEC	D							6	8	7					8																	145004320		1953	4065	6018	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3015C>G	8.37:g.145004320G>C			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A1005	ENST00000322810.4	37	c.3015	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145004320	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.006	C	C	145004320	G	C	145004320	2	2	117	1	0	0	0	0	0	0	0	1	12076	1103	39	2		2	PLEC	8	145004320	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5834	145004320	1359702	578	18046										
PLEC	5339	genome.wustl.edu	37	chr8	145024566	145024566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgggcatcaccatggcgacGgggcggcgcacgcgctgcag	18	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145024566G>A	ENST00000322810.4	-	1	478	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	103	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCATGGCGACGGGGCGGCGCA	0.711																																																	0													22	32	29					8																	145024566		2051	4143	6194	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.309C>T	8.37:g.145024566G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P103	ENST00000322810.4	37	c.309	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024566	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.817	A	A	145024566	G	A	145024566	2	1	117	1	0	0	0	0	0	0	0	1	12076	1103	39	2		2	PLEC	8	145024566	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	20246	145024566	1339456	579	18047			4	80		3	3	73	G		5.186883e-06
PLEC	5339	genome.wustl.edu	37	chr8	145024586	145024586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggcggcgcacgcgctgcaGagaggcgggcacgatctctg	19	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145024586G>C	ENST00000322810.4	-	1	458	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	97	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGCGCTGCAGAGAGGCGGGC	0.692																																																	0													19	32	27					8																	145024586		2086	4163	6249	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.289C>G	8.37:g.145024586G>C	ENSP00000323856:p.Leu97Val		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L97V	ENST00000322810.4	37	c.289	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	g	14.50	2.552833	0.45487	.	.	ENSG00000178209	ENST00000322810	T	0.79845	-1.31	4.9	4.02	0.46733	Plectin/S10, N-terminal (1);	0.000000	0.34200	U	0.004170	D	0.86058	0.5842	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86417	0.1752	10	0.87932	D	0	.	11.3633	0.49657	0.0913:0.0:0.9087:0.0	.	97	Q15149	PLEC_HUMAN	V	97	ENSP00000323856:L97V	ENSP00000323856:L97V	L	-	1	2	PLEC	145096574	0.818000	0.29161	0.981000	0.43875	0.987000	0.75469	1.105000	0.31086	1.044000	0.40200	0.563000	0.77884	CTG	PLEC	-	pfam_S10_plectin_N		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024586	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.997	C	C	145024586	G	C	145024586	3	2	117	1	0	0	0	0	1	0	0	0	12076	933	33	1	14273	1	PLEC	8	145024586	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	20	145024586	1339436	580	18048			4	80		3	3	73	G		5.186883e-06
PLEC	5339	genome.wustl.edu	37	chr8	145024638	145024638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggtactggcggaggtgggcGatgccttcattggtgaggta	18	6	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145024638G>A	ENST00000322810.4	-	1	406	c.237C>T	c.(235-237)atC>atT	p.I79I	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	79	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGGTGGGCGATGCCTTCAT	0.682																																																	0													32	46	41					8																	145024638		2132	4242	6374	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.237C>T	8.37:g.145024638G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.I79	ENST00000322810.4	37	c.237	CCDS43772.1	8																																																																																			PLEC	-	pfam_S10_plectin_N		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024638	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.325	A	A	145024638	G	A	145024638	2	1	117	1	0	0	0	0	0	0	0	1	12076	1048	37	1		1	PLEC	8	145024638	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	52	145024638	1339384	581	18049			4	80		3	3	73	G		5.186883e-06
OPLAH	26873	genome.wustl.edu	37	chr8	145114648	145114648	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catgcggatgctggcgatatGactggagtccagcggctggt	16	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145114648G>A	ENST00000426825.1	-	3	298	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	73					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCGATATGACTGGAGTCC	0.692																																																	0													24	32	29					8																	145114648		2171	4252	6423	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.217C>T	8.37:g.145114648G>A	ENSP00000475943:p.His73Tyr		A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808991	0.16537	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	4.3	0.51218	Hydantoinaseoxoprolinase, N-terminal (1);	0.311236	0.33127	N	0.005252	T	0.41073	0.1143	.	.	.	0.24462	N	0.994432	B	0.02656	0.0	B	0.01281	0.0	T	0.51880	-0.8649	7	0.49607	T	0.09	.	10.2663	0.43457	0.0:0.0:0.6828:0.3172	.	73	O14841	OPLA_HUMAN	Y	73	.	ENSP00000412071:H73Y	H	-	1	0	OPLAH	145186636	0.997000	0.39634	0.369000	0.25952	0.077000	0.17291	4.435000	0.59941	2.450000	0.82876	0.462000	0.41574	CAT	OPLAH	-	-		0.692	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		G	NM_017570		145114648	-1	no_errors	ENST00000426825	ensembl	human	known	70_37	rna	SNP	0.163	A	A	145114648	G	A	145114648	3	1	117	1	0	0	0	0	1	0	0	0	10900	1290	45	1	3751	1	OPLAH	8	145114648	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	90010	145114648	1249374	582	18050										
DGAT1	8694	genome.wustl.edu	37	chr8	145540701	145540701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgacctcgtggaagaaggccGaggccaggaacacccctgtc	13	13	0	2	rs573410614		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145540701G>A	ENST00000332324.4	-	15	1505	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	DGAT1_ENST00000527438.1_5'UTR|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	411					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAAGAAGGCCGAGGCCAGGAA	0.637																																																	0													58	57	57					8																	145540701		2203	4296	6499	SO:0001583	missense	8694			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1232C>T	8.37:g.145540701G>A	ENSP00000332258:p.Ser411Leu		B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.S411L	ENST00000332324.4	37	c.1232	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045626	0.93685	.	.	ENSG00000185000	ENST00000332324	T	0.79033	-1.23	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93621	0.6948	10	0.87932	D	0	-17.1684	14.8306	0.70146	0.0:0.0:1.0:0.0	.	411	O75907	DGAT1_HUMAN	L	411	ENSP00000332258:S411L	ENSP00000332258:S411L	S	-	2	0	DGAT1	145511509	1.000000	0.71417	0.919000	0.36401	0.976000	0.68499	8.887000	0.92456	2.368000	0.80403	0.561000	0.74099	TCG	DGAT1	-	pfam_MBOAT_fam		0.637	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	G	NM_012079		145540701	-1	no_errors	ENST00000332324	ensembl	human	known	70_37	missense	SNP	0.967	A	A	145540701	G	A	145540701	3	1	117	1	0	0	0	0	1	0	0	0	4467	1059	37	1	246	1	DGAT1	8	145540701	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	426053	145540701	823321	583	18051										
CPSF1	29894	genome.wustl.edu	37	chr8	145622829	145622829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttgctggggctgaagaggGagcccgaatccccatacagc	13	13	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145622829G>A	ENST00000349769.3	-	22	2352	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	753					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTGAAGAGGGAGCCCGAATC	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)												0													56	64	61					8																	145622829		2202	4299	6501	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2258C>T	8.37:g.145622829G>A	ENSP00000339353:p.Ser753Phe		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.S753F	ENST00000349769.3	37	c.2258	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656542	0.67586	.	.	ENSG00000071894	ENST00000349769	T	0.35236	1.32	5.4	5.4	0.78164	.	0.253987	0.41194	D	0.000935	T	0.32466	0.0830	L	0.43152	1.355	0.40760	D	0.982992	P	0.41265	0.744	B	0.40659	0.336	T	0.18272	-1.0342	10	0.66056	D	0.02	-12.4848	10.1519	0.42799	0.0917:0.0:0.9083:0.0	.	753	Q10570	CPSF1_HUMAN	F	753	ENSP00000339353:S753F	ENSP00000339353:S753F	S	-	2	0	CPSF1	145593637	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	4.704000	0.61831	2.538000	0.85594	0.491000	0.48974	TCC	CPSF1	-	NULL		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145622829	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145622829	G	A	145622829	3	1	117	1	0	0	0	0	1	0	0	0	3829	1174	41	1	2141	1	CPSF1	8	145622829	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	82128	145622829	741193	584	18052										
CPSF1	29894	genome.wustl.edu	37	chr8	145625203	145625203	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacgctggcggccgccttgtCaaagtggaacgctcggacac	14	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145625203C>G	ENST00000349769.3	-	11	1181	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	363					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGCCTTGTCAAAGTGGAAC	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)												0													21	19	20					8																	145625203		2170	4248	6418	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1087G>C	8.37:g.145625203C>G	ENSP00000339353:p.Asp363His		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.D363H	ENST00000349769.3	37	c.1087	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799832	0.50208	.	.	ENSG00000071894	ENST00000349769	T	0.45668	0.89	5.4	5.4	0.78164	.	0.091772	0.64402	D	0.000001	T	0.45276	0.1334	L	0.48986	1.54	0.80722	D	1	P;B	0.40553	0.721;0.339	P;B	0.44422	0.449;0.223	T	0.25328	-1.0135	10	0.30854	T	0.27	-0.9759	16.6676	0.85257	0.0:1.0:0.0:0.0	.	285;363	D3DWL9;Q10570	.;CPSF1_HUMAN	H	363	ENSP00000339353:D363H	ENSP00000339353:D363H	D	-	1	0	CPSF1	145596011	1.000000	0.71417	0.998000	0.56505	0.282000	0.26991	7.218000	0.77991	2.527000	0.85204	0.555000	0.69702	GAC	CPSF1	-	NULL		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145625203	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145625203	C	G	145625203	3	3	117	1	0	0	0	0	1	0	0	0	3829	826	29	1	3356	1	CPSF1	8	145625203	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2374	145625203	738819	585	18053										
CPSF1	29894	genome.wustl.edu	37	chr8	145625597	145625597	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttcctgtggtgaggctgttGagagccacgccatacggggg	17	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145625597G>C	ENST00000349769.3	-	9	994	c.900C>G	c.(898-900)ctC>ctG	p.L300L	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	300					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGAGGCTGTTGAGAGCCACGC	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)												0													46	35	39					8																	145625597		2202	4299	6501	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.900C>G	8.37:g.145625597G>C			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L300	ENST00000349769.3	37	c.900	CCDS34966.1	8																																																																																			CPSF1	-	NULL		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145625597	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	1.000	C	C	145625597	G	C	145625597	2	2	117	1	0	0	0	0	0	0	0	1	3829	1277	45	1		1	CPSF1	8	145625597	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	394	145625597	738425	586	18054										
DMRT3	58524	genome.wustl.edu	37	chr9	990438	990438	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctggtgagcgccgtggaagtCcttctgtccagccgatcctc	12	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:990438C>T	ENST00000190165.2	+	2	890	c.852C>T	c.(850-852)gtC>gtT	p.V284V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	284					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCGTGGAAGTCCTTCTGTCCA	0.557																																																	0																																										SO:0001819	synonymous_variant	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.852C>T	9.37:g.990438C>T			Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.V284	ENST00000190165.2	37	c.852	CCDS6443.1	9																																																																																			DMRT3	-	pfam_DMA,superfamily_UBA-like		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	HGNC	protein_coding	OTTHUMT00000051490.1	C	NM_021240		990438	1	no_errors	ENST00000190165	ensembl	human	known	70_37	silent	SNP	0.999	T	T	990438	C	T	990438	2	4	117	1	0	0	0	0	0	0	0	1	4597	842	30	1		1	DMRT3	9	990438	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		990438	140222993	587	18055										
SMARCA2	6595	genome.wustl.edu	37	chr9	2104063	2104063	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatcgtattctgccaaaattGagagcgactaatcaccgagt	9	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:2104063G>C	ENST00000382203.1	+	23	3395	c.3186G>C	c.(3184-3186)ttG>ttC	p.L1062F	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L1062F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L1062F|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L1062F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1062	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGCCAAAATTGAGAGCGACTA	0.443																																																	0													229	210	217					9																	2104063		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3186G>C	9.37:g.2104063G>C	ENSP00000371638:p.Leu1062Phe		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L1062F	ENST00000382203.1	37	c.3186	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635349	0.67130	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.69	3.85	0.44370	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000013	D	0.86602	0.5972	M	0.85373	2.75	0.80722	D	1	B;D;D	0.76494	0.416;0.999;0.998	B;D;D	0.83275	0.325;0.996;0.991	D	0.84896	0.0839	10	0.25106	T	0.35	-16.3893	9.9548	0.41660	0.2214:0.0:0.7786:0.0	.	663;1062;1062	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	F	1062	ENSP00000265773:L1062F;ENSP00000349788:L1062F;ENSP00000371638:L1062F;ENSP00000371629:L1062F	ENSP00000265773:L1062F	L	+	3	2	SMARCA2	2094063	0.980000	0.34600	0.805000	0.32314	0.991000	0.79684	1.140000	0.31516	1.412000	0.46977	0.563000	0.77884	TTG	SMARCA2	-	pfscan_Helicase_C		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2104063	1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	0.999	C	C	2104063	G	C	2104063	3	2	117	1	0	0	0	0	1	0	0	0	14799	1281	45	1	3272	1	SMARCA2	9	2104063	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1113625	2104063	139109368	588	18056										
VLDLR	7436	genome.wustl.edu	37	chr9	2643666	2643666	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgaccaatttgaatgtgagGatggcagctgcatccatggc	12	9	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:2643666G>C	ENST00000382100.3	+	6	1215	c.859G>C	c.(859-861)Gat>Cat	p.D287H	VLDLR_ENST00000382099.2_Missense_Mutation_p.D287H|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	287	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGAATGTGAGGATGGCAGCTG	0.483																																																	0													143	116	125					9																	2643666		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.859G>C	9.37:g.2643666G>C	ENSP00000371532:p.Asp287His		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D287H	ENST00000382100.3	37	c.859	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350586	0.82132	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.91945	-2.94;-2.94	5.83	4.93	0.64822	.	0.000000	0.56097	D	0.000040	D	0.96386	0.8821	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.83275	0.992;0.996;0.991	D	0.96623	0.9461	10	0.87932	D	0	.	14.3418	0.66633	0.0705:0.0:0.9295:0.0	.	287;287;287	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	287;287;166	ENSP00000371532:D287H;ENSP00000371531:D287H	ENSP00000371524:D166H	D	+	1	0	VLDLR	2633666	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	5.811000	0.69187	2.756000	0.94617	0.655000	0.94253	GAT	VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.483	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	G	NM_003383		2643666	1	no_errors	ENST00000382100	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2643666	G	C	2643666	3	2	117	1	0	0	0	0	1	0	0	0	17205	1174	41	1	881	1	VLDLR	9	2643666	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	539603	2643666	138569765	589	18057										
KIAA2026	158358	genome.wustl.edu	37	chr9	6007599	6007599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagcaaccgcctccgatcacCatcgcctccatctcttcctc	4	21	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:6007599C>T	ENST00000399933.3	-	1	188	c.189G>A	c.(187-189)atG>atA	p.M63I	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Missense_Mutation_p.M63I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	63										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCCGATCACCATCGCCTCCA	0.672																																																	0													33	41	39					9																	6007599		2089	4211	6300	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.189G>A	9.37:g.6007599C>T	ENSP00000382815:p.Met63Ile		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.M63I	ENST00000399933.3	37	c.189		9	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086037	0.20390	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.21290	N	0.999735	B	0.20780	0.048	B	0.11329	0.006	T	0.13072	-1.0523	8	0.52906	T	0.07	.	11.1585	0.48501	0.0:1.0:0.0:0.0	.	63	Q5HYC2	K2026_HUMAN	I	63	.	ENSP00000370870:M63I	M	-	3	0	KIAA2026	5997599	0.005000	0.15991	0.998000	0.56505	0.417000	0.31264	1.461000	0.35255	2.081000	0.62600	0.491000	0.48974	ATG	KIAA2026	-	NULL		0.672	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		6007599	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	0.986	T	T	6007599	C	T	6007599	3	4	117	1	0	0	0	0	1	0	0	0	8290	594	21	4	6154	4	KIAA2026	9	6007599	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3363933	6007599	135205832	590	18058										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18639298	18639298	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actaaaggtgaaaacagtctCagctccacaggaactttcct	7	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:18639298C>G	ENST00000380548.4	+	7	1062	c.723C>G	c.(721-723)ctC>ctG	p.L241L	ADAMTSL1_ENST00000276935.6_Silent_p.L241L|ADAMTSL1_ENST00000380566.4_Silent_p.L241L|ADAMTSL1_ENST00000327883.7_Silent_p.L241L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	241						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAAACAGTCTCAGCTCCACAG	0.448																																																	0													76	73	74					9																	18639298		2203	4299	6502	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.723C>G	9.37:g.18639298C>G			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L241	ENST00000380548.4	37	c.723	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_ADAM_spacer1		0.448	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18639298	1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	1.000	G	G	18639298	C	G	18639298	2	3	117	1	0	0	0	0	0	0	0	1	274	813	29	1		1	ADAMTSL1	9	18639298	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	12631699	18639298	122574133	591	18059										
KIAA1797	54914	genome.wustl.edu	37	chr9	20764941	20764941	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgaaccatctcagttacaaGaatatgctaaactccgacta	6	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:20764941G>T	ENST00000380249.1	+	9	932	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	FOCAD_ENST00000338382.6_Nonsense_Mutation_p.E190*	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	190						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCAGTTACAAGAATATGCTAA	0.388																																																	0													189	170	176					9																	20764941		2203	4300	6503	SO:0001587	stop_gained	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.568G>T	9.37:g.20764941G>T	ENSP00000369599:p.Glu190*		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Nonsense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.E190*	ENST00000380249.1	37	c.568	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.856678	0.98528	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.98	5.07	0.68467	.	0.225174	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.3523	16.116	0.81304	0.0:0.0:0.8651:0.1349	.	.	.	.	X	190	.	ENSP00000344307:E190X	E	+	1	0	KIAA1797	20754941	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	4.999000	0.63934	1.486000	0.48398	0.591000	0.81541	GAA	FOCAD	-	pfam_DUF3730,superfamily_ARM-type_fold		0.388	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794		20764941	1	no_errors	ENST00000338382	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	20764941	G	T	20764941	4	4	117	1	0	0	0	0	0	1	0	0	8278	943	33	3	590	3	KIAA1797	9	20764941	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2125643	20764941	120448490	592	18060										
KLHL9	55958	genome.wustl.edu	37	chr9	21334600	21334600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatgcacatcaaatcttgttCtttcattccacctgtgaaca	4	11	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:21334600C>G	ENST00000359039.4	-	1	779	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q	KLHL9_ENST00000537938.1_Missense_Mutation_p.E19Q			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAATCTTGTTCTTTCATTCCA	0.388																																																	0													148	135	139					9																	21334600		2203	4300	6503	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.259G>C	9.37:g.21334600C>G	ENSP00000351933:p.Glu87Gln		Q8TCQ2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E87Q	ENST00000359039.4	37	c.259	CCDS6503.1	9	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920598	0.73213	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.75589	-0.95;-0.95	5.49	5.49	0.81192	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89217	0.6652	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91114	0.4924	10	0.87932	D	0	.	17.2561	0.87057	0.0:1.0:0.0:0.0	.	87	Q9P2J3	KLHL9_HUMAN	Q	87;19	ENSP00000351933:E87Q;ENSP00000437733:E19Q	ENSP00000351933:E87Q	E	-	1	0	KLHL9	21324600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.739000	0.84976	2.752000	0.94435	0.655000	0.94253	GAA	KLHL9	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.388	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	C	NM_018847		21334600	-1	no_errors	ENST00000359039	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21334600	C	G	21334600	3	3	117	1	0	0	0	0	1	0	0	0	8416	922	32	1	1598	1	KLHL9	9	21334600	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	569659	21334600	119878831	593	18061										
TAF1L	138474	genome.wustl.edu	37	chr9	32633691	32633691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgatggaactgccggattttGatgggccccatgtgggtggg	17	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:32633691G>C	ENST00000242310.4	-	1	1976	c.1887C>G	c.(1885-1887)atC>atG	p.I629M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	629					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCGGATTTTGATGGGCCCCA	0.502																																																	0													79	85	83					9																	32633691		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1887C>G	9.37:g.32633691G>C	ENSP00000418379:p.Ile629Met		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.I629M	ENST00000242310.4	37	c.1887	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392814	0.42410	.	.	ENSG00000122728	ENST00000242310	T	0.13538	2.58	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.041532	0.85682	D	0.000000	T	0.02767	0.0083	N	0.01168	-0.975	0.27413	N	0.954513	B	0.12013	0.005	B	0.15052	0.012	T	0.44019	-0.9355	10	0.02654	T	1	.	4.4208	0.11479	0.0:0.429:0.5709:1.0E-4	.	629	Q8IZX4	TAF1L_HUMAN	M	629	ENSP00000418379:I629M	ENSP00000418379:I629M	I	-	3	3	TAF1L	32623691	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	3.396000	0.52565	0.632000	0.30432	0.195000	0.17529	ATC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.502	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32633691	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32633691	G	C	32633691	3	2	117	1	0	0	0	0	1	0	0	0	15553	1280	45	1	3597	1	TAF1L	9	32633691	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11299091	32633691	108579740	594	18062										
NFX1	4799	genome.wustl.edu	37	chr9	33347041	33347041	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttctctttctgcagtatatCattcttgtcatagtgaggag	8	7	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:33347041C>G	ENST00000379540.3	+	15	2412	c.2350C>G	c.(2350-2352)Cat>Gat	p.H784D	NFX1_ENST00000379521.4_Missense_Mutation_p.H784D|NFX1_ENST00000318524.6_Missense_Mutation_p.H784D	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	784					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGCAGTATATCATTCTTGTCA	0.388																																																	0													138	129	132					9																	33347041		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2350C>G	9.37:g.33347041C>G	ENSP00000368856:p.His784Asp		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.H784D	ENST00000379540.3	37	c.2350	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735579	0.89482	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.58210	0.35;0.35;0.35	6.06	6.06	0.98353	Zinc finger, NF-X1-type (1);	0.052516	0.85682	D	0.000000	T	0.81545	0.4845	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.79108	0.992;0.965;0.984;0.992;0.991	D	0.85956	0.1467	10	0.72032	D	0.01	-4.9652	18.1221	0.89574	0.0:1.0:0.0:0.0	.	784;668;784;784;784	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	D	784	ENSP00000368856:H784D;ENSP00000368836:H784D;ENSP00000317695:H784D	ENSP00000317695:H784D	H	+	1	0	NFX1	33337041	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.680000	0.84062	2.871000	0.98454	0.655000	0.94253	CAT	NFX1	-	smart_Znf_NFX1		0.388	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	C			33347041	1	no_errors	ENST00000379540	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33347041	C	G	33347041	3	3	117	1	0	0	0	0	1	0	0	0	10411	826	29	1	2408	1	NFX1	9	33347041	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	713350	33347041	107866390	595	18063										
UBAP2	55833	genome.wustl.edu	37	chr9	33996307	33996307	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggccactatgcattcatcctGatttttccctgtcacttcca	5	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:33996307G>C	ENST00000379238.1	-	4	319	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q68E|UBAP2_ENST00000360802.1_Missense_Mutation_p.Q68E|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q68E					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CATTCATCCTGATTTTTCCCT	0.343																																																	0													190	177	181					9																	33996307		2203	4300	6503	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.202C>G	9.37:g.33996307G>C	ENSP00000368540:p.Gln68Glu			Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.Q68E	ENST00000379238.1	37	c.202	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068154	0.76301	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.86	5.86	0.93980	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.049620	0.85682	D	0.000000	T	0.32102	0.0818	L	0.28014	0.82	0.80722	D	1	B;D;D	0.76494	0.229;0.986;0.999	B;P;D	0.83275	0.12;0.718;0.996	T	0.01675	-1.1298	10	0.05833	T	0.94	-3.2387	20.1951	0.98241	0.0:0.0:1.0:0.0	.	68;30;68	E7EWG4;F5H2C8;Q5T6F2	.;.;UBAP2_HUMAN	E	68;68;68;30;8;68;68;68	ENSP00000368540:Q68E;ENSP00000416932:Q68E;ENSP00000354039:Q68E;ENSP00000404436:Q68E;ENSP00000414800:Q68E	ENSP00000259602:Q68E	Q	-	1	0	UBAP2	33986307	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.314000	0.96306	2.780000	0.95670	0.585000	0.79938	CAG	UBAP2	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk		0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	G	NM_018449		33996307	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33996307	G	C	33996307	3	2	117	1	0	0	0	0	1	0	0	0	16868	1299	45	1	3261	1	UBAP2	9	33996307	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	649266	33996307	107217124	596	18064										
C9orf131	138724	genome.wustl.edu	37	chr9	35042891	35042891	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcaccgtgtggccttccttGatcacctgtgtaagcagaaa	10	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:35042891G>A	ENST00000312292.5	+	2	312	c.265G>A	c.(265-267)Gat>Aat	p.D89N	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.D41N|C9orf131_ENST00000354479.5_Missense_Mutation_p.D16N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	89										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGCCTTCCTTGATCACCTGTG	0.488																																																	0													72	67	69					9																	35042891		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.265G>A	9.37:g.35042891G>A	ENSP00000308279:p.Asp89Asn		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.D89N	ENST00000312292.5	37	c.265	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066397	0.36470	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745;ENST00000435140	T;T;T;T	0.48836	1.93;1.6;1.94;0.8	4.45	2.62	0.31277	.	0.568986	0.15922	N	0.238083	T	0.34658	0.0905	L	0.32530	0.975	0.09310	N	0.999999	P;P;P	0.40731	0.728;0.728;0.728	B;B;B	0.39904	0.313;0.313;0.313	T	0.14868	-1.0457	10	0.54805	T	0.06	-0.2605	6.9444	0.24510	0.204:0.0:0.796:0.0	.	89;16;41	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	N	41;16;89;54;17	ENSP00000393683:D41N;ENSP00000346472:D16N;ENSP00000308279:D89N;ENSP00000368019:D54N	ENSP00000308279:D89N	D	+	1	0	C9orf131	35032891	0.983000	0.35010	0.170000	0.22879	0.113000	0.19764	2.422000	0.44696	0.818000	0.34468	0.655000	0.94253	GAT	C9orf131	-	NULL		0.488	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	G	NM_203299		35042891	1	no_errors	ENST00000312292	ensembl	human	known	70_37	missense	SNP	0.232	A	A	35042891	G	A	35042891	3	1	117	1	0	0	0	0	1	0	0	0	2462	1290	45	1	287	1	C9orf131	9	35042891	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1046584	35042891	106170540	597	18065										
CBWD3	445571	genome.wustl.edu	37	chr9	70871863	70871863	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggcttctatgttttgggttGatgctgaattagggagtgat	14	3	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:70871863G>A	ENST00000360171.6	+	5	1008	c.457G>A	c.(457-459)Gat>Aat	p.D153N	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	153							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTTTTGGGTTGATGCTGAATT	0.259																																																	0													25	31	29					9																	70871863		2188	4257	6445	SO:0001583	missense	445571			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.457G>A	9.37:g.70871863G>A	ENSP00000353295:p.Asp153Asn		B4DNG9|Q6VB91	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.D153N	ENST00000360171.6	37	c.457	CCDS35038.1	9	.	.	.	.	.	.	.	.	.	.	.	18.99	3.740497	0.69304	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455061;ENST00000455820;ENST00000377344	T	0.43294	0.95	3.38	2.44	0.29823	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.051059	0.85682	D	0.000000	T	0.53400	0.1794	M	0.69185	2.1	0.80722	D	1	P;B	0.46457	0.878;0.35	P;P	0.57324	0.818;0.521	T	0.57189	-0.7854	10	0.72032	D	0.01	-29.8837	9.156	0.36994	0.1167:0.0:0.8833:0.0	.	153;153	E7ETY5;Q5JTY5	.;CBWD3_HUMAN	N	153;153;153;153;117	ENSP00000353295:D153N	ENSP00000353295:D153N	D	+	1	0	CBWD3	70061683	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.050000	0.76620	1.602000	0.50124	0.305000	0.20034	GAT	CBWD3	-	pfam_CobW/HypB/UreG_dom		0.259	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD3	HGNC	protein_coding	OTTHUMT00000052526.1	G	NM_201453		70871863	1	no_errors	ENST00000360171	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70871863	G	A	70871863	3	1	117	1	0	0	0	0	1	0	0	0	2719	1290	45	1	1723	1	CBWD3	9	70871863	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	35828972	70871863	70341568	598	18066										
PGM5	5239	genome.wustl.edu	37	chr9	71098826	71098826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagacgacatattatatcatGagggacctggaggccctggt	12	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:71098826G>A	ENST00000396396.1	+	9	1570	c.1341G>A	c.(1339-1341)atG>atA	p.M447I		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	447					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTATATCATGAGGGACCTGG	0.507																																																	0													103	92	96					9																	71098826		2203	4300	6503	SO:0001583	missense	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1341G>A	9.37:g.71098826G>A	ENSP00000379678:p.Met447Ile		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.M447I	ENST00000396396.1	37	c.1341	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127278	0.56721	.	.	ENSG00000154330	ENST00000396396	T	0.42131	0.98	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.51853	1.615	0.80722	D	1	B	0.23249	0.082	B	0.28553	0.091	T	0.18241	-1.0343	10	0.33141	T	0.24	.	18.7313	0.91736	0.0:0.0:1.0:0.0	.	447	Q15124	PGM5_HUMAN	I	447	ENSP00000379678:M447I	ENSP00000379678:M447I	M	+	3	0	PGM5	70288646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.411000	0.73298	2.716000	0.92895	0.655000	0.94253	ATG	PGM5	-	NULL		0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	G	NM_021965		71098826	1	no_errors	ENST00000396396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71098826	G	A	71098826	3	1	117	1	0	0	0	0	1	0	0	0	11825	1290	45	1	1375	1	PGM5	9	71098826	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	226963	71098826	70114605	599	18067										
GDA	9615	genome.wustl.edu	37	chr9	74810440	74810440	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtttttagaagaagcatctCaacaggaaaaactggccaaa	8	7	1	2	rs369384144		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:74810440C>G	ENST00000358399.3	+	2	241	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	GDA_ENST00000376986.1_Missense_Mutation_p.Q8E|GDA_ENST00000238018.4_Missense_Mutation_p.Q50E|GDA_ENST00000376989.3_Missense_Mutation_p.Q25E|GDA_ENST00000545168.1_5'UTR|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	50					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGAAGCATCTCAACAGGAAAA	0.348																																																	0													62	60	61					9																	74810440		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.148C>G	9.37:g.74810440C>G	ENSP00000351170:p.Gln50Glu		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.Q50E	ENST00000358399.3	37	c.148	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983097	0.18889	.	.	ENSG00000119125	ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	.	.	.	5.22	3.29	0.37713	.	0.383899	0.29355	N	0.012400	T	0.26340	0.0643	N	0.04297	-0.235	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21895	-1.0232	9	0.02654	T	1	-8.1572	14.6234	0.68602	0.0:0.5869:0.413:0.0	.	8;50;50	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	E	50;25;8;50	.	ENSP00000238018:Q50E	Q	+	1	0	GDA	74000260	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.168000	0.31859	1.197000	0.43143	0.585000	0.79938	CAA	GDA	-	tigrfam_Guanine_deaminase		0.348	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	C			74810440	1	no_errors	ENST00000238018	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74810440	C	G	74810440	3	3	117	1	0	0	0	0	1	0	0	0	6325	827	29	1	154	1	GDA	9	74810440	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3711614	74810440	66402991	600	18068										
TRPM6	140803	genome.wustl.edu	37	chr9	77376684	77376684	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggttagcattttcgctttGacccatgctccctgccctat	7	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:77376684G>A	ENST00000360774.1	-	27	4950	c.4713C>T	c.(4711-4713)gtC>gtT	p.V1571V	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.V1566V|TRPM6_ENST00000449912.2_Silent_p.V1566V|TRPM6_ENST00000376864.4_Silent_p.V1571V|TRPM6_ENST00000451710.3_Silent_p.V1571V|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1571					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTCGCTTTGACCCATGCTC	0.413																																																	0													184	164	171					9																	77376684		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4713C>T	9.37:g.77376684G>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.V1571	ENST00000360774.1	37	c.4713	CCDS6647.1	9																																																																																			TRPM6	-	NULL		0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	G	NM_017662		77376684	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	silent	SNP	0.961	A	A	77376684	G	A	77376684	2	1	117	1	0	0	0	0	0	0	0	1	16621	1277	45	1		1	TRPM6	9	77376684	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2566244	77376684	63836747	601	18069										
PRUNE2	158471	genome.wustl.edu	37	chr9	79322089	79322089	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcagttggccacctggatctCttcctctattgactcttcac	7	14	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:79322089C>G	ENST00000376718.3	-	8	5224	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1342Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1701					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTGGATCTCTTCCTCTATT	0.473																																																	0													83	72	75					9																	79322089		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5101G>C	9.37:g.79322089C>G	ENSP00000365908:p.Glu1701Gln		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E1342Q	ENST00000376718.3	37	c.4024	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.433|7.433	0.639156|0.639156	0.14386|0.14386	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55588|.	0.51;0.51|.	5.83|5.83	3.97|3.97	0.46021|0.46021	.|.	0.995451|.	0.08143|.	N|.	0.991346|.	T|T	0.47284|0.47284	0.1437|0.1437	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999992|0.999992	P|.	0.50272|.	0.933|.	B|.	0.39706|.	0.307|.	T|T	0.33317|0.33317	-0.9873|-0.9873	10|5	0.87932|.	D|.	0|.	-0.0408|-0.0408	9.529|9.529	0.39182|0.39182	0.0:0.7719:0.0:0.2281|0.0:0.7719:0.0:0.2281	.|.	1701|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|T	1701;1342;1700|1022	ENSP00000365908:E1701Q;ENSP00000397425:E1342Q|.	ENSP00000365908:E1701Q|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78511909|78511909	0.277000|0.277000	0.24220|0.24220	0.007000|0.007000	0.13788|0.13788	0.116000|0.116000	0.19942|0.19942	0.520000|0.520000	0.22878|0.22878	0.785000|0.785000	0.33685|0.33685	0.655000|0.655000	0.94253|0.94253	GAG|AGA	PRUNE2	-	NULL		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79322089	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	0.066	G	G	79322089	C	G	79322089	3	3	117	1	0	0	0	0	1	0	0	0	12668	922	32	1	4213	1	PRUNE2	9	79322089	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1945405	79322089	61891342	602	18070										
VPS13A	23230	genome.wustl.edu	37	chr9	79825580	79825580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggtatttcccttcaaaatCtgagcatgcaggtattttgt	8	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:79825580C>G	ENST00000360280.3	+	7	804	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	VPS13A_ENST00000376634.4_Missense_Mutation_p.L182V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L182V|VPS13A_ENST00000376636.3_Missense_Mutation_p.L182V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	182					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTCAAAATCTGAGCATGCA	0.303																																																	0													71	76	75					9																	79825580		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.544C>G	9.37:g.79825580C>G	ENSP00000353422:p.Leu182Val		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L182V	ENST00000360280.3	37	c.544	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562249	0.45694	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.57907	0.53;0.37;0.44;0.53	5.2	3.33	0.38152	.	0.207175	0.42172	D	0.000743	T	0.53674	0.1811	M	0.90425	3.115	0.80722	D	1	B;B;B;B	0.33612	0.042;0.19;0.419;0.288	B;B;B;B	0.29716	0.065;0.049;0.106;0.106	T	0.52571	-0.8558	10	0.39692	T	0.17	.	6.7222	0.23336	0.133:0.6678:0.1284:0.0708	.	182;182;182;182	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	182	ENSP00000365821:L182V;ENSP00000365823:L182V;ENSP00000353422:L182V;ENSP00000349985:L182V	ENSP00000349985:L182V	L	+	1	2	VPS13A	79015400	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.364000	0.34171	0.660000	0.30964	0.655000	0.94253	CTG	VPS13A	-	NULL		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	C	NM_015186		79825580	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79825580	C	G	79825580	3	3	117	1	0	0	0	0	1	0	0	0	17220	912	32	1	570	1	VPS13A	9	79825580	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	503491	79825580	61387851	603	18071										
ZCCHC6	79670	genome.wustl.edu	37	chr9	88960659	88960659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gattcaattaaaacatcacaGagtctgcaggtgtactttgc	8	8	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:88960659G>A	ENST00000375963.3	-	4	916	c.744C>T	c.(742-744)ctC>ctT	p.L248L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_Silent_p.L81L|ZCCHC6_ENST00000375960.2_Silent_p.L248L|ZCCHC6_ENST00000375961.2_Silent_p.L248L|ZCCHC6_ENST00000375948.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	248					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAACATCACAGAGTCTGCAGG	0.348																																																	0													186	171	176					9																	88960659		2203	4300	6503	SO:0001819	synonymous_variant	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.744C>T	9.37:g.88960659G>A			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L248	ENST00000375963.3	37	c.744	CCDS35057.1	9																																																																																			ZCCHC6	-	smart_Znf_U1		0.348	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	G	NM_024617		88960659	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	silent	SNP	0.987	A	A	88960659	G	A	88960659	2	1	117	1	0	0	0	0	0	0	0	1	17622	929	33	1		1	ZCCHC6	9	88960659	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9135079	88960659	52252772	604	18072										
C9orf79	286234	genome.wustl.edu	37	chr9	90500620	90500620	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcacgaccctaaatcccttCtggaacgtgtcaacccagcc	6	16	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:90500620C>T	ENST00000325643.5	+	4	1284	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	406					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TAAATCCCTTCTGGAACGTGT	0.557																																																	0													87	66	73					9																	90500620		2202	4299	6501	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1218C>T	9.37:g.90500620C>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.F406	ENST00000325643.5	37	c.1218	CCDS6676.1	9																																																																																			SPATA31E1	-	NULL		0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	C	NM_178828		90500620	1	no_errors	ENST00000325643	ensembl	human	known	70_37	silent	SNP	0.009	T	T	90500620	C	T	90500620	2	4	117	1	0	0	0	0	0	0	0	1	2502	912	32	1		1	C9orf79	9	90500620	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1539961	90500620	50712811	605	18073										
ZNF510	22869	genome.wustl.edu	37	chr9	99525475	99525475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctccaacttgaagatcacctCtggtttgaaacagcagtacc	7	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:99525475C>G	ENST00000375231.1	-	5	927	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	ZNF510_ENST00000223428.4_Missense_Mutation_p.E93Q|ZNF510_ENST00000472201.1_5'UTR			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AAGATCACCTCTGGTTTGAAA	0.423																																																	0													137	139	139					9																	99525475		2203	4300	6503	SO:0001583	missense	22869			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.277G>C	9.37:g.99525475C>G	ENSP00000364379:p.Glu93Gln		Q5SZP5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E93Q	ENST00000375231.1	37	c.277	CCDS35074.1	9	.	.	.	.	.	.	.	.	.	.	c	9.992	1.231078	0.22626	.	.	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.51071	0.72;0.72;0.72	3.3	2.4	0.29515	Krueppel-associated box (3);	.	.	.	.	T	0.39886	0.1095	M	0.67625	2.065	0.09310	N	1	P	0.37781	0.608	B	0.29862	0.108	T	0.38520	-0.9657	9	0.72032	D	0.01	.	6.5687	0.22527	0.0:0.8678:0.0:0.1322	.	93	Q9Y2H8	ZN510_HUMAN	Q	93	ENSP00000364379:E93Q;ENSP00000223428:E93Q;ENSP00000363772:E93Q	ENSP00000223428:E93Q	E	-	1	0	ZNF510	98565296	0.003000	0.15002	0.005000	0.12908	0.011000	0.07611	1.099000	0.31013	0.968000	0.38212	-0.140000	0.14226	GAG	ZNF510	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF510	HGNC	protein_coding	OTTHUMT00000053287.1	C	NM_014930		99525475	-1	no_errors	ENST00000223428	ensembl	human	known	70_37	missense	SNP	0.005	G	G	99525475	C	G	99525475	3	3	117	1	0	0	0	0	1	0	0	0	17984	922	32	1	1782	1	ZNF510	9	99525475	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9024855	99525475	41687956	606	18074										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100133042	100133042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctggacagcatgattaggatGaacaaggagaagctggaggt	15	5	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:100133042G>A	ENST00000357054.1	+	45	5372	c.4437G>A	c.(4435-4437)atG>atA	p.M1479I	CCDC180_ENST00000529487.1_Missense_Mutation_p.M1534I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.M1534I			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1479						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGATTAGGATGAACAAGGAGA	0.493																																																	0													117	116	117					9																	100133042		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4437G>A	9.37:g.100133042G>A	ENSP00000349562:p.Met1479Ile		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.M1534I	ENST00000357054.1	37	c.4602		9	.	.	.	.	.	.	.	.	.	.	G	8.837	0.941332	0.18281	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.42900	0.96;0.96;0.96	5.33	-10.0	0.00425	.	3.411240	0.00508	N	0.000161	T	0.29976	0.0750	L	0.36672	1.1	0.09310	N	1	B;P	0.34412	0.066;0.453	B;B	0.39771	0.062;0.309	T	0.34576	-0.9823	10	0.40728	T	0.16	11.3177	3.6152	0.08075	0.4803:0.2898:0.1325:0.0975	.	1673;1479	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	I	1479;1534;1534	ENSP00000349562:M1479I;ENSP00000364348:M1534I;ENSP00000434727:M1534I	ENSP00000349562:M1479I	M	+	3	0	C9orf174	99172863	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.666000	0.01963	-1.805000	0.01239	-0.150000	0.13652	ATG	C9orf174	-	NULL		0.493	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100133042	1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	0.000	A	A	100133042	G	A	100133042	3	1	117	1	0	0	0	0	1	0	0	0	8260	1290	45	1	4571	1	KIAA1529	9	100133042	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	607567	100133042	41080389	607	18075										
GRIN3A	116443	genome.wustl.edu	37	chr9	104499576	104499576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctcacctgactctcccgtGgaaactcgtggcgcacgatg	10	15	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:104499576G>A	ENST00000361820.3	-	1	1286	c.686C>T	c.(685-687)cCa>cTa	p.P229L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	229					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACTCTCCCGTGGAAACTCGTG	0.607																																																	0													52	46	48					9																	104499576		2203	4300	6503	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.686C>T	9.37:g.104499576G>A	ENSP00000355155:p.Pro229Leu		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.P229L	ENST00000361820.3	37	c.686	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113140	0.56398	.	.	ENSG00000198785	ENST00000361820	D	0.85702	-2.02	5.39	5.39	0.77823	.	0.580338	0.17641	N	0.167038	D	0.83585	0.5286	L	0.50333	1.59	0.58432	D	0.999996	P	0.52842	0.956	B	0.41813	0.367	D	0.84835	0.0804	10	0.48119	T	0.1	.	19.1686	0.93567	0.0:0.0:1.0:0.0	.	229	Q8TCU5	NMD3A_HUMAN	L	229	ENSP00000355155:P229L	ENSP00000355155:P229L	P	-	2	0	GRIN3A	103539397	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.163000	0.58183	2.515000	0.84797	0.655000	0.94253	CCA	GRIN3A	-	NULL		0.607	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	G			104499576	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104499576	G	A	104499576	3	1	117	1	0	0	0	0	1	0	0	0	6803	1348	47	4	2697	4	GRIN3A	9	104499576	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4366534	104499576	36713855	608	18076										
OR13F1	138805	genome.wustl.edu	37	chr9	107267221	107267221	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttatcctcgccagtatcctGagaatcagctcagtggaagg	10	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:107267221G>C	ENST00000334726.2	+	1	767	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGTATCCTGAGAATCAGCT	0.483																																																	0													225	204	211					9																	107267221		2203	4300	6503	SO:0001819	synonymous_variant	138805				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.678G>C	9.37:g.107267221G>C			Q6IF50	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L226	ENST00000334726.2	37	c.678	CCDS35087.1	9																																																																																			OR13F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	HGNC	protein_coding	OTTHUMT00000053475.1	G			107267221	1	no_errors	ENST00000334726	ensembl	human	known	70_37	silent	SNP	0.034	C	C	107267221	G	C	107267221	2	2	117	1	0	0	0	0	0	0	0	1	10965	1277	45	1		1	OR13F1	9	107267221	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2767645	107267221	33946210	609	18077										
TMEM38B	55151	genome.wustl.edu	37	chr9	108510422	108510422	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacccagcatctggcaatatCaaagcataatcttatgttcc	5	12	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:108510422C>G	ENST00000374692.3	+	5	728	c.611C>G	c.(610-612)tCa>tGa	p.S204*	TMEM38B_ENST00000374688.1_Nonsense_Mutation_p.S150*	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	204						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGGCAATATCAAAGCATAAT	0.373																																																	0													91	83	86					9																	108510422		2203	4300	6503	SO:0001587	stop_gained	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.611C>G	9.37:g.108510422C>G	ENSP00000363824:p.Ser204*		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Nonsense_Mutation	SNP	pfam_TRIC_channel	p.S204*	ENST00000374692.3	37	c.611	CCDS6768.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.09|18.09|18.09	3.546159|3.546159|3.546159	0.65198|0.65198|0.65198	.|.|.	.|.|.	ENSG00000095209|ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034|ENST00000374692;ENST00000374688	.|.|.	.|.|.	.|.|.	5.47|5.47|5.47	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.526013	.|.|0.21068	.|.|N	.|.|0.080701	T|T|.	0.70692|0.70692|.	0.3253|0.3253|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.70208|0.70208|.	-0.4935|-0.4935|.	5|4|.	0.46703|.|0.46703	T|.|T	0.11|.|0.11	-2.8215|-2.8215|-2.8215	13.7646|13.7646|13.7646	0.62988|0.62988|0.62988	0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|E|X	64|141|204;150	.|.|.	ENSP00000416680:I64M|.|ENSP00000363820:S150X	I|Q|S	+|+|+	3|1|2	3|0|0	TMEM38B|TMEM38B|TMEM38B	107550243|107550243|107550243	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.967000|0.967000|0.967000	0.64934|0.64934|0.64934	1.480000|1.480000|1.480000	0.35464|0.35464|0.35464	2.720000|2.720000|2.720000	0.93068|0.93068|0.93068	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	ATC|CAA|TCA	TMEM38B	-	pfam_TRIC_channel		0.373	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	HGNC	protein_coding	OTTHUMT00000053517.1	C	NM_018112		108510422	1	no_errors	ENST00000374692	ensembl	human	known	70_37	nonsense	SNP	0.998	G	G	108510422	C	G	108510422	4	3	117	1	0	0	0	0	0	1	0	0	16190	838	29	1	629	1	TMEM38B	9	108510422	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1243201	108510422	32703009	610	18078										
RAD23B	5887	genome.wustl.edu	37	chr9	110068756	110068756	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaccaccacaactgtggctCaggctccaacccctgtccct	6	20	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:110068756C>T	ENST00000358015.3	+	4	676	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	RAD23B_ENST00000416373.2_Nonsense_Mutation_p.Q37*	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	109					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AACTGTGGCTCAGGCTCCAAC	0.577								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													148	117	127					9																	110068756		2203	4300	6503	SO:0001587	stop_gained	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.325C>T	9.37:g.110068756C>T	ENSP00000350708:p.Gln109*		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Nonsense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.Q109*	ENST00000358015.3	37	c.325	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	C	37	5.981512	0.97168	.	.	ENSG00000119318	ENST00000419616;ENST00000358015;ENST00000374678;ENST00000416373	.	.	.	5.44	5.44	0.79542	.	0.372260	0.30483	N	0.009530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.2699	19.6294	0.95694	0.0:1.0:0.0:0.0	.	.	.	.	X	109;109;37;37	.	ENSP00000350708:Q109X	Q	+	1	0	RAD23B	109108577	1.000000	0.71417	0.980000	0.43619	0.758000	0.43043	3.050000	0.49877	2.707000	0.92482	0.655000	0.94253	CAG	RAD23B	-	tigrfam_Rad23		0.577	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	C	NM_002874		110068756	1	no_errors	ENST00000358015	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	110068756	C	T	110068756	4	4	117	1	0	0	0	0	0	1	0	0	13013	827	29	1	339	1	RAD23B	9	110068756	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1558334	110068756	31144675	611	18079										
UGCG	7357	genome.wustl.edu	37	chr9	114688771	114688771	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agggctttgctgccaccttaGagcaggtgagtatggtggtt	15	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:114688771G>C	ENST00000374279.3	+	5	1003	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	185					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGCCACCTTAGAGCAGGTGAG	0.453																																																	0													99	92	94					9																	114688771		2203	4300	6503	SO:0001583	missense	7357			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.553G>C	9.37:g.114688771G>C	ENSP00000363397:p.Glu185Gln		Q5T258	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.E185Q	ENST00000374279.3	37	c.553	CCDS6782.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.854481	0.97030	.	.	ENSG00000148154	ENST00000374279	T	0.58652	0.32	5.77	5.77	0.91146	Glycosyl transferase, family 2 (1);	0.089333	0.85682	D	0.000000	T	0.73651	0.3614	M	0.69248	2.105	0.80722	D	1	P	0.51791	0.948	P	0.60286	0.872	T	0.71241	-0.4651	10	0.46703	T	0.11	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	185	Q16739	CEGT_HUMAN	Q	185	ENSP00000363397:E185Q	ENSP00000363397:E185Q	E	+	1	0	UGCG	113728592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.658000	0.98594	2.885000	0.99019	0.655000	0.94253	GAG	UGCG	-	pfam_Glyco_trans_2		0.453	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCG	HGNC	protein_coding	OTTHUMT00000053661.1	G	NM_003358		114688771	1	no_errors	ENST00000374279	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114688771	G	C	114688771	3	2	117	1	0	0	0	0	1	0	0	0	16970	943	33	1	571	1	UGCG	9	114688771	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4620015	114688771	26524660	612	18080										
HSDL2	84263	genome.wustl.edu	37	chr9	115232804	115232804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattggagaagctaatgaatCagatgaatgccagactgtga	11	5	1	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:115232804C>G	ENST00000398805.3	+	11	1464	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	HSDL2_ENST00000262542.7_Missense_Mutation_p.Q293E|HSDL2_ENST00000539114.1_Missense_Mutation_p.Q208E|HSDL2_ENST00000398803.1_Missense_Mutation_p.Q340E	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	413	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GCTAATGAATCAGATGAATGC	0.333																																																	0													73	66	68					9																	115232804		1839	4079	5918	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.1237C>G	9.37:g.115232804C>G	ENSP00000381785:p.Gln413Glu		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.Q413E	ENST00000398805.3	37	c.1237	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469944	0.43839	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.82526	-1.62;1.98;1.99;1.98	5.8	5.8	0.92144	SCP2 sterol-binding domain (1);	0.127194	0.56097	D	0.000034	D	0.83229	0.5209	M	0.78637	2.42	0.49389	D	0.999787	P;P;B	0.48089	0.89;0.905;0.349	B;B;B	0.44224	0.34;0.444;0.108	T	0.81276	-0.1006	10	0.06494	T	0.89	.	17.8208	0.88650	0.0:1.0:0.0:0.0	.	340;340;413	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	E	413;340;293;208	ENSP00000381785:Q413E;ENSP00000381783:Q340E;ENSP00000262542:Q293E;ENSP00000442278:Q208E	ENSP00000262542:Q293E	Q	+	1	0	HSDL2	114272625	0.998000	0.40836	0.991000	0.47740	0.927000	0.56198	4.230000	0.58632	2.730000	0.93505	0.557000	0.71058	CAG	HSDL2	-	superfamily_SCP2_sterol-bd_dom		0.333	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	C	NM_032303		115232804	1	no_errors	ENST00000398805	ensembl	human	known	70_37	missense	SNP	0.999	G	G	115232804	C	G	115232804	3	3	117	1	0	0	0	0	1	0	0	0	7414	827	29	1	1279	1	HSDL2	9	115232804	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	544033	115232804	25980627	613	18081										
DFNB31	25861	genome.wustl.edu	37	chr9	117170230	117170230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccagccagggccttaccacGgacacatctgggagggcgtt	14	13	1	0	rs558215535		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117170230G>A	ENST00000362057.3	-	8	1863	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	DFNB31_ENST00000265134.6_Silent_p.S182S|DFNB31_ENST00000374059.3_Silent_p.S214S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	565					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S565S(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTTACCACGGACACATCTG	0.572																																																	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001819	synonymous_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1695C>T	9.37:g.117170230G>A			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S565	ENST00000362057.3	37	c.1695	CCDS6806.1	9																																																																																			DFNB31	-	NULL		0.572	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	G	NM_015404		117170230	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	silent	SNP	0.989	A	A	117170230	G	A	117170230	2	1	117	1	0	0	0	0	0	0	0	1	4465	1103	39	2		2	DFNB31	9	117170230	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1937426	117170230	24043201	614	18082										
TNC	3371	genome.wustl.edu	37	chr9	117848146	117848146	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcgccctggcactcaccctCtgagcagtcttctccgctgt	9	17	4	1	rs201025112		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117848146C>A	ENST00000350763.4	-	3	2275	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*	TNC_ENST00000537320.1_Nonsense_Mutation_p.E622*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E622*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E622*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E622*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E622*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E622*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E622*|TNC_ENST00000542877.1_Nonsense_Mutation_p.E622*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	622					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTCACCCTCTGAGCAGTCT	0.527																																																	0													36	34	35					9																	117848146		2203	4300	6503	SO:0001587	stop_gained	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1864G>T	9.37:g.117848146C>A	ENSP00000265131:p.Glu622*		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E622*	ENST00000350763.4	37	c.1864	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.987085	0.97983	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.74	1.6	0.23607	.	0.560479	0.20392	N	0.093239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.2386	0.89958	0.0:0.5087:0.4913:0.0	.	.	.	.	X	622	.	ENSP00000344400:E622X	E	-	1	0	TNC	116887967	0.000000	0.05858	0.036000	0.18154	0.126000	0.20510	0.008000	0.13197	0.020000	0.15106	0.563000	0.77884	GAG	TNC	-	pfscan_Fibronectin_type3		0.527	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117848146	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	nonsense	SNP	0.011	A	A	117848146	C	A	117848146	4	1	117	1	0	0	0	0	0	1	0	0	16300	922	32	3	4845	3	TNC	9	117848146	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	677916	117848146	23365285	615	18083										
TNC	3371	genome.wustl.edu	37	chr9	117848473	117848473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcacagacgcactgtccgtCcacacagaggcccctgttgc	9	17	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117848473C>A	ENST00000350763.4	-	3	1948	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	TNC_ENST00000537320.1_Missense_Mutation_p.D513Y|TNC_ENST00000535648.1_Missense_Mutation_p.D513Y|TNC_ENST00000341037.4_Missense_Mutation_p.D513Y|TNC_ENST00000340094.3_Missense_Mutation_p.D513Y|TNC_ENST00000346706.3_Missense_Mutation_p.D513Y|TNC_ENST00000423613.2_Missense_Mutation_p.D513Y|TNC_ENST00000345230.3_Missense_Mutation_p.D513Y|TNC_ENST00000542877.1_Missense_Mutation_p.D513Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	513	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTGTCCGTCCACACAGAGG	0.597																																																	0													91	82	85					9																	117848473		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1537G>T	9.37:g.117848473C>A	ENSP00000265131:p.Asp513Tyr		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D513Y	ENST00000350763.4	37	c.1537	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250993	0.39797	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.82	5.82	0.92795	EGF, extracellular (1);Epidermal growth factor-like (1);	0.302850	0.38058	N	0.001821	T	0.29524	0.0736	M	0.72624	2.21	0.53005	D	0.999963	D;P	0.69078	0.997;0.779	D;P	0.71656	0.974;0.718	T	0.00802	-1.1560	10	0.87932	D	0	.	10.4772	0.44672	0.0:0.8559:0.0:0.1441	.	513;513	E9PC84;P24821	.;TENA_HUMAN	Y	513	ENSP00000344400:D513Y;ENSP00000438152:D513Y;ENSP00000344555:D513Y;ENSP00000345861:D513Y;ENSP00000265131:D513Y;ENSP00000339553:D513Y;ENSP00000411406:D513Y;ENSP00000443478:D513Y;ENSP00000442242:D513Y	ENSP00000344400:D513Y	D	-	1	0	TNC	116888294	0.968000	0.33430	0.792000	0.32020	0.065000	0.16274	2.256000	0.43231	2.753000	0.94483	0.462000	0.41574	GAC	TNC	-	pfam_EGF_extracell,smart_EG-like_dom		0.597	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117848473	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.961	A	A	117848473	C	A	117848473	3	1	117	1	0	0	0	0	1	0	0	0	16300	855	30	3	5172	3	TNC	9	117848473	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	327	117848473	23364958	616	18084										
DBC1	1620	genome.wustl.edu	37	chr9	121929662	121929662	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggaggtcggcgttgaacctCaggctatacccaaacacctg	11	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:121929662C>G	ENST00000265922.3	-	8	2447	c.1986G>C	c.(1984-1986)ctG>ctC	p.L662L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	662					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGTTGAACCTCAGGCTATACC	0.572																																																	0													182	168	173					9																	121929662		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1986G>C	9.37:g.121929662C>G			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.L662	ENST00000265922.3	37	c.1986	CCDS6822.1	9																																																																																			DBC1	-	NULL		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	C	NM_014618		121929662	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	1.000	G	G	121929662	C	G	121929662	2	3	117	1	0	0	0	0	0	0	0	1	4252	813	29	1		1	DBC1	9	121929662	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4081189	121929662	19283769	617	18085										
GSN	2934	genome.wustl.edu	37	chr9	124073024	124073024	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaggtggtggtgcagagactCttccaggtcaaagggcggcg	18	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:124073024C>G	ENST00000373818.4	+	4	636	c.567C>G	c.(565-567)ctC>ctG	p.L189L	GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373808.2_Silent_p.L138L|GSN_ENST00000412819.1_Silent_p.L138L|GSN_ENST00000341272.2_Silent_p.L138L|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000394353.2_Silent_p.L149L|GSN_ENST00000373823.3_Silent_p.L138L|GSN_ENST00000545652.1_Silent_p.L146L|GSN_ENST00000436847.1_Silent_p.L149L|GSN_ENST00000449733.1_Silent_p.L138L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	189	Polyphosphoinositide binding. {ECO:0000250}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCAGAGACTCTTCCAGGTCA	0.587																																																	0													210	149	170					9																	124073024		2203	4300	6503	SO:0001819	synonymous_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.567C>G	9.37:g.124073024C>G			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.L189	ENST00000373818.4	37	c.567	CCDS6828.1	9																																																																																			GSN	-	smart_Gelsolin		0.587	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	C	NM_000177		124073024	1	no_errors	ENST00000373818	ensembl	human	known	70_37	silent	SNP	1.000	G	G	124073024	C	G	124073024	2	3	117	1	0	0	0	0	0	0	0	1	6845	900	32	1		1	GSN	9	124073024	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2143362	124073024	17140407	618	18086										
RABGAP1	23637	genome.wustl.edu	37	chr9	125748668	125748668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcactagatgttaccctttCagtgccgaatgtgtctgaag	9	9	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:125748668C>T	ENST00000373647.4	+	4	694	c.560C>T	c.(559-561)tCa>tTa	p.S187L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	187	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTTACCCTTTCAGTGCCGAAT	0.443																																																	0													186	179	182					9																	125748668		2203	4300	6503	SO:0001583	missense	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.560C>T	9.37:g.125748668C>T	ENSP00000362751:p.Ser187Leu		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.S187L	ENST00000373647.4	37	c.560	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821011	0.50633	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000426918	T	0.64085	-0.08	5.3	5.3	0.74995	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.149229	0.46758	D	0.000270	T	0.73976	0.3656	L	0.60455	1.87	0.80722	D	1	P;D	0.61080	0.619;0.989	B;D	0.72625	0.268;0.978	T	0.67650	-0.5616	10	0.11794	T	0.64	-7.5844	17.9388	0.89021	0.0:1.0:0.0:0.0	.	187;187	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	L	187;187;18	ENSP00000362751:S187L	ENSP00000324973:S187L	S	+	2	0	RABGAP1	124788489	1.000000	0.71417	0.195000	0.23364	0.515000	0.34225	5.637000	0.67854	2.497000	0.84241	0.455000	0.32223	TCA	RABGAP1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.443	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	C	NM_012197		125748668	1	no_errors	ENST00000373647	ensembl	human	known	70_37	missense	SNP	0.991	T	T	125748668	C	T	125748668	3	4	117	1	0	0	0	0	1	0	0	0	12994	838	29	1	570	1	RABGAP1	9	125748668	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1675644	125748668	15464763	619	18087										
CRB2	286204	genome.wustl.edu	37	chr9	126132855	126132855	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caccactgtgcttgtcctgaGactgccggacctggccctaa	10	15	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:126132855G>C	ENST00000373631.3	+	7	1524	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T	CRB2_ENST00000373629.2_Missense_Mutation_p.R176T|CRB2_ENST00000359999.3_Missense_Mutation_p.R508T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	508	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTTGTCCTGAGACTGCCGGAC	0.602																																																	0													81	67	72					9																	126132855		2203	4300	6503	SO:0001583	missense	286204			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1523G>C	9.37:g.126132855G>C	ENSP00000362734:p.Arg508Thr		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R508T	ENST00000373631.3	37	c.1523	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	G	2.058	-0.416080	0.04766	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.78924	-1.22;0.05;-1.22	4.94	1.73	0.24493	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.676008	0.12930	N	0.427443	T	0.60064	0.2240	L	0.35793	1.09	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.12837	0.008;0.004	T	0.37220	-0.9715	10	0.11485	T	0.65	.	2.8384	0.05522	0.0911:0.2812:0.3817:0.246	.	508;508	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	508;508;176	ENSP00000353092:R508T;ENSP00000362734:R508T;ENSP00000362732:R176T	ENSP00000353092:R508T	R	+	2	0	CRB2	125172676	0.000000	0.05858	0.989000	0.46669	0.169000	0.22640	-0.312000	0.08113	1.042000	0.40150	0.448000	0.29417	AGA	CRB2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.602	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	G	NM_173689		126132855	1	no_errors	ENST00000373631	ensembl	human	known	70_37	missense	SNP	0.000	C	C	126132855	G	C	126132855	3	2	117	1	0	0	0	0	1	0	0	0	3854	942	33	1	1549	1	CRB2	9	126132855	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	384187	126132855	15080576	620	18088										
GARNL3	84253	genome.wustl.edu	37	chr9	130117612	130117612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tattaacactcaccacagcaGagagctgaggattgtggttg	11	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130117612G>C	ENST00000373387.4	+	20	2148	c.1796G>C	c.(1795-1797)aGa>aCa	p.R599T	GARNL3_ENST00000314904.5_Missense_Mutation_p.R599T|GARNL3_ENST00000435213.2_Missense_Mutation_p.R577T	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	599	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CACCACAGCAGAGAGCTGAGG	0.498																																																	0													191	188	189					9																	130117612		2203	4300	6503	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1796G>C	9.37:g.130117612G>C	ENSP00000362485:p.Arg599Thr		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.R599T	ENST00000373387.4	37	c.1796	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006264	0.19199	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.05081	3.5;3.5;3.5	5.48	1.6	0.23607	Citron-like (2);	0.517672	0.22384	N	0.060772	T	0.02533	0.0077	N	0.03608	-0.345	0.26131	N	0.980415	B;B	0.16396	0.003;0.017	B;B	0.18561	0.011;0.022	T	0.47315	-0.9127	9	.	.	.	.	8.4853	0.33067	0.3794:0.0:0.6206:0.0	.	599;577	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	577;599;599	ENSP00000396205:R577T;ENSP00000313970:R599T;ENSP00000362485:R599T	.	R	+	2	0	GARNL3	129157433	0.671000	0.27521	1.000000	0.80357	0.991000	0.79684	0.876000	0.28092	0.692000	0.31613	0.563000	0.77884	AGA	GARNL3	-	pfam_Citron,smart_Citron		0.498	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	G	NM_032293		130117612	1	no_errors	ENST00000373387	ensembl	human	known	70_37	missense	SNP	0.951	C	C	130117612	G	C	130117612	3	2	117	1	0	0	0	0	1	0	0	0	6260	942	33	1	1874	1	GARNL3	9	130117612	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3984757	130117612	11095819	621	18089										
NAIF1	203245	genome.wustl.edu	37	chr9	130829080	130829080	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggccccccagctccgtcctCctcagtgggccccggcgcct	11	21	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130829080C>A	ENST00000373078.4	-	1	520	c.301G>T	c.(301-303)Gag>Tag	p.E101*	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	101	Gly-rich.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTCCGTCCTCCTCAGTGGGC	0.677																																																	0													34	36	35					9																	130829080		2200	4298	6498	SO:0001587	stop_gained	203245			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.301G>T	9.37:g.130829080C>A	ENSP00000362170:p.Glu101*		B3KV81|Q8WU12	Nonsense_Mutation	SNP	NULL	p.E101*	ENST00000373078.4	37	c.301	CCDS6889.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.870646	0.97901	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.53	4.62	0.57501	.	0.339143	0.28317	N	0.015791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2557	7.0733	0.25191	0.0:0.8325:0.0:0.1675	.	.	.	.	X	101	.	ENSP00000362170:E101X	E	-	1	0	NAIF1	129868901	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.296000	0.51802	2.607000	0.88179	0.655000	0.94253	GAG	NAIF1	-	NULL		0.677	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	C	NM_197956		130829080	-1	no_errors	ENST00000373078	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	130829080	C	A	130829080	4	1	117	1	0	0	0	0	0	1	0	0	10169	864	30	3	690	3	NAIF1	9	130829080	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	711468	130829080	10384351	622	18090										
C9orf114	51490	genome.wustl.edu	37	chr9	131586155	131586155	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccagaccctggaggcccccGaacaccacaagagcatgcct	9	17	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:131586155G>A	ENST00000361256.5	-	11	973	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	311							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GGAGGCCCCCGAACACCACAA	0.642																																																	0													37	35	36					9																	131586155		2203	4300	6503	SO:0001819	synonymous_variant	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.933C>T	9.37:g.131586155G>A			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Silent	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.F311	ENST00000361256.5	37	c.933	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133167	0.21041	.	.	ENSG00000198917	ENST00000372618	.	.	.	5.67	-4.38	0.03622	.	0.797182	0.12104	N	0.499183	T	0.70202	0.3197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75761	-0.3204	6	0.87932	D	0	0.0736	14.4992	0.67709	0.7192:0.0:0.2808:0.0	.	.	.	.	L	310	.	ENSP00000361701:S310L	S	-	2	0	C9orf114	130625976	0.771000	0.28555	0.932000	0.37286	0.906000	0.53458	0.071000	0.14594	-0.740000	0.04803	-0.379000	0.06801	TCG	C9orf114	-	pfam_Put_MeTrfase		0.642	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	G	NM_016390		131586155	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	silent	SNP	0.961	A	A	131586155	G	A	131586155	2	1	117	1	0	0	0	0	0	0	0	1	2454	1049	37	1		1	C9orf114	9	131586155	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	757075	131586155	9627276	623	18091										
FNBP1	23048	genome.wustl.edu	37	chr9	132665165	132665165	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tacctcaaatttctgggtctCtactcgcagtttctctatat	5	11	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:132665165C>G	ENST00000446176.2	-	13	1597	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	FNBP1_ENST00000420781.1_Missense_Mutation_p.E462Q|FNBP1_ENST00000443566.2_Missense_Mutation_p.E99Q|FNBP1_ENST00000355681.3_Missense_Mutation_p.E442Q|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	471	Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCTGGGTCTCTACTCGCAGT	0.443			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													110	102	104					9																	132665165		1849	4099	5948	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1411G>C	9.37:g.132665165C>G	ENSP00000413625:p.Glu471Gln		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E471Q	ENST00000446176.2	37	c.1411	CCDS48040.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.232334|4.232334	0.79688|0.79688	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681|ENST00000449089	T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.108809|.	0.64402|.	D|.	0.000005|.	T|.	0.78142|.	0.4237|.	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	B;D;D;P;D;D;P;D|.	0.89917|.	0.112;1.0;0.992;0.93;1.0;1.0;0.729;0.999|.	B;D;D;P;D;D;P;D|.	0.78314|.	0.082;0.985;0.917;0.688;0.991;0.979;0.544;0.953|.	T|.	0.77308|.	-0.2636|.	10|.	0.87932|.	D|.	0|.	-41.9702|-41.9702	18.9453|18.9453	0.92620|0.92620	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	466;461;99;405;442;422;466;471|.	B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;.;FNBP1_HUMAN|.	Q|Y	471;471;462;471;99;442|422	ENSP00000413625:E471Q;ENSP00000407548:E462Q;ENSP00000389117:E99Q;ENSP00000347907:E442Q|.	ENSP00000347907:E442Q|.	E|X	-|-	1|3	0|2	FNBP1|FNBP1	131704986|131704986	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.705000|0.705000	0.40729|0.40729	7.487000|7.487000	0.81328|0.81328	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GAG|TAG	FNBP1	-	superfamily_HR1_rho-bd		0.443	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	C			132665165	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	missense	SNP	0.999	G	G	132665165	C	G	132665165	3	3	117	1	0	0	0	0	1	0	0	0	5983	922	32	1	462	1	FNBP1	9	132665165	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1079010	132665165	8548266	624	18092										
LAMC3	10319	genome.wustl.edu	37	chr9	133962880	133962880	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagcttgccaaggccttgctGagggagcggaaacaggcgca	15	10	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:133962880G>A	ENST00000361069.4	+	26	4381	c.4248G>A	c.(4246-4248)ctG>ctA	p.L1416L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1416	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGGCCTTGCTGAGGGAGCGGA	0.597																																																	0													103	108	106					9																	133962880		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4248G>A	9.37:g.133962880G>A			B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1416	ENST00000361069.4	37	c.4248	CCDS6938.1	9																																																																																			LAMC3	-	NULL		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133962880	1	no_errors	ENST00000361069	ensembl	human	known	70_37	silent	SNP	0.990	A	A	133962880	G	A	133962880	2	1	117	1	0	0	0	0	0	0	0	1	8636	1277	45	1		1	LAMC3	9	133962880	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1297715	133962880	7250551	625	18093										
BAT2L1	84726	genome.wustl.edu	37	chr9	134351139	134351139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggcgagccctccctccccGgctgagcaattgcgggtatg	14	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:134351139G>A	ENST00000357304.4	+	15	3678	c.3623G>A	c.(3622-3624)cGg>cAg	p.R1208Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1208							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCCCTCCCCGGCTGAGCAAT	0.607																																																	0													24	26	25					9																	134351139		1977	4148	6125	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3623G>A	9.37:g.134351139G>A	ENSP00000349856:p.Arg1208Gln		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.R1208Q	ENST00000357304.4	37	c.3623	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967634	0.92855	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.27402	1.67	5.54	5.54	0.83059	.	.	.	.	.	T	0.53465	0.1798	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.45425	-0.9262	8	.	.	.	.	18.4662	0.90755	0.0:0.0:1.0:0.0	.	504;1208	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	Q	1208;504	ENSP00000349856:R1208Q	.	R	+	2	0	PRRC2B	133340960	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.409000	0.97331	2.607000	0.88179	0.462000	0.41574	CGG	PRRC2B	-	NULL		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134351139	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134351139	G	A	134351139	3	1	117	1	0	0	0	0	1	0	0	0	1321	1116	39	2	3681	2	BAT2L1	9	134351139	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	388259	134351139	6862292	626	18094										
SETX	23064	genome.wustl.edu	37	chr9	135205299	135205299	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttcctctaaggaataagttGagcttatcccagaatcgctt	7	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:135205299G>C	ENST00000224140.5	-	10	1868	c.1686C>G	c.(1684-1686)ctC>ctG	p.L562L	SETX_ENST00000393220.1_Silent_p.L562L|SETX_ENST00000372169.2_Silent_p.L562L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	562					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGAATAAGTTGAGCTTATCCC	0.393																																																	0													70	75	73					9																	135205299		2203	4298	6501	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1686C>G	9.37:g.135205299G>C			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.L562	ENST00000224140.5	37	c.1686	CCDS6947.1	9																																																																																			SETX	-	NULL		0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135205299	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	silent	SNP	1.000	C	C	135205299	G	C	135205299	2	2	117	1	0	0	0	0	0	0	0	1	14171	1277	45	1		1	SETX	9	135205299	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	854160	135205299	6008132	627	18095										
GTF3C4	9329	genome.wustl.edu	37	chr9	135553529	135553529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctggtctcccatgggttgcGatgctaatggcaggtgcctc	14	11	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:135553529G>A	ENST00000372146.4	+	2	1087	c.523G>A	c.(523-525)Gat>Aat	p.D175N	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	175					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CATGGGTTGCGATGCTAATGG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)												0													115	112	113					9																	135553529		2203	4300	6503	SO:0001583	missense	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.523G>A	9.37:g.135553529G>A	ENSP00000361219:p.Asp175Asn		Q5VZJ7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.D175N	ENST00000372146.4	37	c.523	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313797	0.81358	.	.	ENSG00000125484	ENST00000372146	T	0.43294	0.95	5.72	5.72	0.89469	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35699	-0.9778	10	0.19147	T	0.46	-28.8323	18.4551	0.90717	0.0:0.0:1.0:0.0	.	175	Q9UKN8	TF3C4_HUMAN	N	175	ENSP00000361219:D175N	ENSP00000361219:D175N	D	+	1	0	GTF3C4	134543350	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.238000	0.95380	2.709000	0.92574	0.561000	0.74099	GAT	GTF3C4	-	NULL		0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	G			135553529	1	no_errors	ENST00000372146	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135553529	G	A	135553529	3	1	117	1	0	0	0	0	1	0	0	0	6895	1058	37	1	529	1	GTF3C4	9	135553529	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	348230	135553529	5659902	628	18096										
TSC1	7248	genome.wustl.edu	37	chr9	135781123	135781123	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgacaaaatgatgggctgtCtttggcaatgccacctcaaa	9	9	2	2	rs118203589		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:135781123C>A	ENST00000298552.3	-	15	2063	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N	TSC1_ENST00000440111.2_Missense_Mutation_p.K614N|TSC1_ENST00000545250.1_Missense_Mutation_p.K563N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	614					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATGGGCTGTCTTTGGCAATG	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											130	114	119					9																	135781123		2203	4300	6503	SO:0001583	missense	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1842G>T	9.37:g.135781123C>A	ENSP00000298552:p.Lys614Asn		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.K614N	ENST00000298552.3	37	c.1842	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707022	0.68615	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.90324	-2.65;-2.65;-2.65	5.94	5.05	0.67936	.	0.042171	0.85682	D	0.000000	D	0.93762	0.8006	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.962	D	0.93303	0.6678	10	0.49607	T	0.09	-23.7959	10.4359	0.44435	0.0:0.8527:0.0:0.1473	.	563;614	B7Z897;Q92574	.;TSC1_HUMAN	N	614;614;563	ENSP00000298552:K614N;ENSP00000394524:K614N;ENSP00000444017:K563N	ENSP00000298552:K614N	K	-	3	2	TSC1	134770944	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.814000	0.48010	1.528000	0.49103	-0.145000	0.13849	AAG	TSC1	-	pfam_Hamartin		0.502	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	C			135781123	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135781123	C	A	135781123	3	1	117	1	0	0	0	0	1	0	0	0	16636	912	32	3	1688	3	TSC1	9	135781123	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	227594	135781123	5432308	629	18097										
SARDH	1757	genome.wustl.edu	37	chr9	136577743	136577743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcccaatgggcacttacctGatgtcatagccatgcatgtc	9	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:136577743G>A	ENST00000371872.4	-	10	1583	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	SARDH_ENST00000422262.2_Silent_p.I274I|SARDH_ENST00000439388.1_Silent_p.I442I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	442					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCACTTACCTGATGTCATAGC	0.602																																																	0													68	63	65					9																	136577743		2203	4300	6503	SO:0001819	synonymous_variant	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1326C>T	9.37:g.136577743G>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.I442	ENST00000371872.4	37	c.1326	CCDS6978.1	9																																																																																			SARDH	-	NULL		0.602	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	G			136577743	-1	no_errors	ENST00000371872	ensembl	human	known	70_37	silent	SNP	1.000	A	A	136577743	G	A	136577743	2	1	117	1	0	0	0	0	0	0	0	1	13871	1280	45	1		1	SARDH	9	136577743	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	796620	136577743	4635688	630	18098										
NOTCH1	4851	genome.wustl.edu	37	chr9	139413262	139413262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctggcactcgtccacatcctCggtacagtactgacctgcag	9	15	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139413262C>T	ENST00000277541.6	-	6	955	c.880G>A	c.(880-882)Gag>Aag	p.E294K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	294					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCACATCCTCGGTACAGTAC	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													60	65	64					9																	139413262		2189	4292	6481	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.880G>A	9.37:g.139413262C>T	ENSP00000277541:p.Glu294Lys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E294K	ENST00000277541.6	37	c.880	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522271	0.64747	.	.	ENSG00000148400	ENST00000277541	D	0.91124	-2.79	5.3	4.34	0.51931	.	0.051710	0.85682	N	0.000000	D	0.90195	0.6935	L	0.31120	0.905	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85861	0.1410	10	0.10902	T	0.67	.	11.4987	0.50424	0.0:0.9032:0.0:0.0968	.	294	P46531	NOTC1_HUMAN	K	294	ENSP00000277541:E294K	ENSP00000277541:E294K	E	-	1	0	NOTCH1	138533083	1.000000	0.71417	0.806000	0.32338	0.144000	0.21451	4.784000	0.62411	1.098000	0.41479	0.561000	0.74099	GAG	NOTCH1	-	pirsf_Notch		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139413262	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.998	T	T	139413262	C	T	139413262	3	4	117	1	0	0	0	0	1	0	0	0	10571	893	31	1	6903	1	NOTCH1	9	139413262	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2835519	139413262	1800169	631	18099										
KIAA1984	84960	genome.wustl.edu	37	chr9	139690910	139690910	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggagctgaagaccatcactCagctccagggtgagcctgca	12	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139690910C>G	ENST00000338005.6	+	1	96	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	RP11-216L13.17_ENST00000456614.2_Intron|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		21										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GACCATCACTCAGCTCCAGGG	0.572																																																	0													25	35	32					9																	139690910		2011	4145	6156	SO:0001583	missense	84960																														ENST00000338005.6:c.61C>G	9.37:g.139690910C>G	ENSP00000338013:p.Gln21Glu		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.Q21E	ENST00000338005.6	37	c.61	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	C	4.056	0.008112	0.07912	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11930	2.73	3.95	-1.0	0.10196	.	2.121240	0.03389	U	0.201505	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.35574	-0.9783	10	0.20519	T	0.43	-10.1073	10.2492	0.43360	0.6958:0.3042:0.0:0.0	.	21	Q5T5S1	K1984_HUMAN	E	21	ENSP00000338013:Q21E	ENSP00000338013:Q21E	Q	+	1	0	KIAA1984	138810731	0.000000	0.05858	0.469000	0.27204	0.407000	0.30961	-1.041000	0.03542	0.020000	0.15106	0.491000	0.48974	CAG	KIAA1984	-	NULL		0.572	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	C			139690910	1	no_errors	ENST00000338005	ensembl	human	known	70_37	missense	SNP	0.105	G	G	139690910	C	G	139690910	3	3	117	1	0	0	0	0	1	0	0	0	8286	827	29	1	63	1	KIAA1984	9	139690910	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	277648	139690910	1522521	632	18100										
FBXW5	54461	genome.wustl.edu	37	chr9	139838386	139838386	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccacctggtagtagcggtaGaactgctccctccacaggaa	11	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139838386G>A	ENST00000325285.3	-	2	229	c.150C>T	c.(148-150)ttC>ttT	p.F50F	C8G_ENST00000224181.3_5'Flank|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	50					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGTAGCGGTAGAACTGCTCCC	0.721																																																	0													15	16	16					9																	139838386		2074	4127	6201	SO:0001819	synonymous_variant	54461			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.150C>T	9.37:g.139838386G>A			B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F50	ENST00000325285.3	37	c.150	CCDS7014.1	9																																																																																			FBXW5	-	superfamily_F-box_dom_cyclin-like		0.721	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	G	NM_018998		139838386	-1	no_errors	ENST00000325285	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139838386	G	A	139838386	2	1	117	1	0	0	0	0	0	0	0	1	5786	933	33	1		1	FBXW5	9	139838386	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	147476	139838386	1375045	633	18101										
TPRN	286262	genome.wustl.edu	37	chr9	140086993	140086993	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagtgcaaagggcttctcctCtgagccggatccctcttcct	10	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:140086993C>G	ENST00000409012.4	-	2	1962	c.1876G>C	c.(1876-1878)Gag>Cag	p.E626Q	TPRN_ENST00000321773.2_Missense_Mutation_p.E565Q|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	626	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGCTTCTCCTCTGAGCCGGAT	0.627																																																	0													46	35	39					9																	140086993		2200	4299	6499	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1876G>C	9.37:g.140086993C>G	ENSP00000387100:p.Glu626Gln		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.E626Q	ENST00000409012.4	37	c.1876	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	C	5.208	0.223842	0.09863	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	4.41	2.37	0.29283	.	0.556638	0.16046	N	0.232174	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	0.999996	D	0.59357	0.985	P	0.51974	0.686	T	0.08086	-1.0739	9	0.17369	T	0.5	.	5.0064	0.14289	0.0:0.6619:0.2069:0.1312	.	626	Q4KMQ1	TPRN_HUMAN	Q	424;626;565	.	ENSP00000313704:E565Q	E	-	1	0	TPRN	139206814	0.154000	0.22792	0.217000	0.23759	0.523000	0.34469	2.532000	0.45659	0.384000	0.24942	0.561000	0.74099	GAG	TPRN	-	NULL		0.627	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	C	NM_173691		140086993	-1	no_errors	ENST00000409012	ensembl	human	known	70_37	missense	SNP	0.300	G	G	140086993	C	G	140086993	3	3	117	1	0	0	0	0	1	0	0	0	16452	922	32	1	351	1	TPRN	9	140086993	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	248607	140086993	1126438	634	18102										
EHMT1	79813	genome.wustl.edu	37	chr9	140611105	140611105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatggctgccgatgaaggctCagcagagaaacaggcaggag	15	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:140611105C>T	ENST00000460843.1	+	3	140	c.113C>T	c.(112-114)tCa>tTa	p.S38L	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.S38L|EHMT1_ENST00000334856.6_Missense_Mutation_p.S7L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	38					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GATGAAGGCTCAGCAGAGAAA	0.562																																																	0													73	76	75					9																	140611105		2203	4298	6501	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.113C>T	9.37:g.140611105C>T	ENSP00000417980:p.Ser38Leu		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.S38L	ENST00000460843.1	37	c.113	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	c	12.71	2.019114	0.35606	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70045	1.52;0.88;-0.45	5.41	3.58	0.41010	.	0.330121	0.26304	N	0.025159	T	0.56307	0.1976	L	0.46157	1.445	0.24399	N	0.994714	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.11329	0.0;0.006;0.006	T	0.46789	-0.9166	10	0.34782	T	0.22	.	9.0877	0.36592	0.0:0.7783:0.0:0.2217	.	38;7;38	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	L	7;7;38;38	ENSP00000334476:S7L;ENSP00000417328:S38L;ENSP00000417980:S38L	ENSP00000334476:S7L	S	+	2	0	EHMT1	139730926	0.315000	0.24571	0.529000	0.27951	0.963000	0.63663	0.744000	0.26245	0.681000	0.31386	0.546000	0.68486	TCA	EHMT1	-	NULL		0.562	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140611105	1	no_errors	ENST00000460843	ensembl	human	known	70_37	missense	SNP	0.750	T	T	140611105	C	T	140611105	3	4	117	1	0	0	0	0	1	0	0	0	4993	838	29	1	123	1	EHMT1	9	140611105	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	524112	140611105	602326	635	18103										
WDR37	22884	genome.wustl.edu	37	chr10	1139409	1139409	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtaaattctatcaaatttCatccctcagagcagttggct	6	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:1139409C>T	ENST00000358220.1	+	8	766	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	WDR37_ENST00000381329.1_Missense_Mutation_p.H208Y|WDR37_ENST00000263150.4_Missense_Mutation_p.H208Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	208										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TATCAAATTTCATCCCTCAGA	0.274																																																	0													78	79	79					10																	1139409		2202	4295	6497	SO:0001583	missense	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.622C>T	10.37:g.1139409C>T	ENSP00000350954:p.His208Tyr		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H208Y	ENST00000358220.1	37	c.622	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742209	0.89573	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046889	0.85682	D	0.000000	T	0.73705	0.3621	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	0.991;0.999;1.0	D;D;D	0.91635	0.988;0.996;0.999	T	0.75096	-0.3438	10	0.72032	D	0.01	-13.2851	19.0452	0.93016	0.0:1.0:0.0:0.0	.	208;208;208	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Y	208;208;208;175	ENSP00000350954:H208Y;ENSP00000370730:H208Y;ENSP00000263150:H208Y;ENSP00000404346:H175Y	ENSP00000263150:H208Y	H	+	1	0	WDR37	1129409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.418000	0.80167	2.608000	0.88229	0.650000	0.86243	CAT	WDR37	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.274	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	C	NM_014023		1139409	1	no_errors	ENST00000263150	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1139409	C	T	1139409	3	4	117	1	0	0	0	0	1	0	0	0	17322	826	29	1	648	1	WDR37	10	1139409	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		1139409	134395338	636	18104										
RBM17	84991	genome.wustl.edu	37	chr10	6139113	6139113	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acttcaaacttctgcagtctCagcttcaggtgaagaaggca	9	10	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:6139113C>T	ENST00000446108.1	+	2	729	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.Q29*	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	29					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCTGCAGTCTCAGCTTCAGGT	0.483																																																	0													99	101	100					10																	6139113		2203	4300	6503	SO:0001587	stop_gained	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.85C>T	10.37:g.6139113C>T	ENSP00000388638:p.Gln29*		Q96GY6	Nonsense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom	p.Q29*	ENST00000446108.1	37	c.85	CCDS7077.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.948482	0.98577	.	.	ENSG00000134453	ENST00000379888;ENST00000432931;ENST00000446108;ENST00000418631	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.9282	17.8748	0.88822	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000369218:Q29X	Q	+	1	0	RBM17	6179119	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.384000	0.79751	2.276000	0.75962	0.460000	0.39030	CAG	RBM17	-	pirsf_Splicing_factor_SPF45		0.483	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM17	HGNC	protein_coding	OTTHUMT00000046635.1	C	NM_032905		6139113	1	no_errors	ENST00000379888	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	6139113	C	T	6139113	4	4	117	1	0	0	0	0	0	1	0	0	13149	827	29	1	87	1	RBM17	10	6139113	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4999704	6139113	129395634	637	18105										
ITIH2	3698	genome.wustl.edu	37	chr10	7759602	7759602	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctttaggagcagcgctcttGatatggaaaacttcagaacg	10	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:7759602G>C	ENST00000358415.4	+	6	647	c.481G>C	c.(481-483)Gat>Cat	p.D161H	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.D150H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	161	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGCGCTCTTGATATGGAAAA	0.483																																																	0													161	171	168					10																	7759602		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.481G>C	10.37:g.7759602G>C	ENSP00000351190:p.Asp161His		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D161H	ENST00000358415.4	37	c.481	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637222	0.47049	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.24538	1.85;1.85;1.85	5.34	5.34	0.76211	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.051743	0.85682	D	0.000000	T	0.53674	0.1811	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53837	-0.8382	10	0.49607	T	0.09	-27.5984	19.0542	0.93056	0.0:0.0:1.0:0.0	.	161	P19823	ITIH2_HUMAN	H	161;136;150	ENSP00000351190:D161H;ENSP00000388826:D136H;ENSP00000368906:D150H	ENSP00000351190:D161H	D	+	1	0	ITIH2	7799608	1.000000	0.71417	0.726000	0.30738	0.012000	0.07955	9.417000	0.97391	2.484000	0.83849	0.563000	0.77884	GAT	ITIH2	-	pfam_VIT,smart_VIT		0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	G	NM_002216		7759602	1	no_errors	ENST00000358415	ensembl	human	known	70_37	missense	SNP	0.996	C	C	7759602	G	C	7759602	3	2	117	1	0	0	0	0	1	0	0	0	7924	1290	45	1	503	1	ITIH2	10	7759602	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1620489	7759602	127775145	638	18106										
DHTKD1	55526	genome.wustl.edu	37	chr10	12133641	12133641	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accagctgggttacaccactCcagctgaaagaggaaggtct	11	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:12133641C>G	ENST00000263035.4	+	6	1179	c.1117C>G	c.(1117-1119)Cca>Gca	p.P373A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	373					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTACACCACTCCAGCTGAAAG	0.443																																																	0													101	94	96					10																	12133641		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1117C>G	10.37:g.12133641C>G	ENSP00000263035:p.Pro373Ala		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.P373A	ENST00000263035.4	37	c.1117	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374701	0.42105	.	.	ENSG00000181192	ENST00000263035;ENST00000415935	T;D	0.95447	2.16;-3.71	5.7	5.7	0.88788	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	L	0.46885	1.475	0.80722	D	1	D	0.63880	0.993	D	0.67103	0.949	D	0.94576	0.7775	10	0.21540	T	0.41	-9.3528	19.8385	0.96670	0.0:1.0:0.0:0.0	.	373	Q96HY7	DHTK1_HUMAN	A	373;71	ENSP00000263035:P373A;ENSP00000400625:P71A	ENSP00000263035:P373A	P	+	1	0	DHTKD1	12173647	1.000000	0.71417	0.859000	0.33776	0.739000	0.42172	7.764000	0.85297	2.701000	0.92244	0.655000	0.94253	CCA	DHTKD1	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12133641	1	no_errors	ENST00000263035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12133641	C	G	12133641	3	3	117	1	0	0	0	0	1	0	0	0	4510	855	30	1	1139	1	DHTKD1	10	12133641	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4374039	12133641	123401106	639	18107										
DHTKD1	55526	genome.wustl.edu	37	chr10	12159690	12159690	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggcagccgtgtcaactcttCaagaaatggcaccaggaaca	10	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:12159690C>A	ENST00000263035.4	+	14	2400	c.2338C>A	c.(2338-2340)Caa>Aaa	p.Q780K	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	780					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTCAACTCTTCAAGAAATGGC	0.458																																																	0													190	164	173					10																	12159690		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2338C>A	10.37:g.12159690C>A	ENSP00000263035:p.Gln780Lys		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.Q780K	ENST00000263035.4	37	c.2338	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411709	0.11812	.	.	ENSG00000181192	ENST00000263035	T	0.04360	3.64	5.42	2.38	0.29361	.	0.556803	0.19381	N	0.115652	T	0.03871	0.0109	N	0.08118	0	0.22354	N	0.99918	B	0.02656	0.0	B	0.06405	0.002	T	0.37934	-0.9684	10	0.52906	T	0.07	-0.1831	18.7083	0.91646	0.0:0.3809:0.6191:0.0	.	780	Q96HY7	DHTK1_HUMAN	K	780	ENSP00000263035:Q780K	ENSP00000263035:Q780K	Q	+	1	0	DHTKD1	12199696	0.998000	0.40836	0.990000	0.47175	0.743000	0.42351	0.514000	0.22786	0.192000	0.20272	0.655000	0.94253	CAA	DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.458	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12159690	1	no_errors	ENST00000263035	ensembl	human	known	70_37	missense	SNP	0.996	A	A	12159690	C	A	12159690	3	1	117	1	0	0	0	0	1	0	0	0	4510	827	29	3	2392	3	DHTKD1	10	12159690	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	26049	12159690	123375057	640	18108										
CCDC3	83643	genome.wustl.edu	37	chr10	12940471	12940471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggcattgatgtgcggcagcGcgcccgccgccagcttctca	14	15	1	1	rs368910799		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:12940471G>A	ENST00000378825.3	-	3	884	c.758C>T	c.(757-759)gCg>gTg	p.A253V	CCDC3_ENST00000378839.1_Missense_Mutation_p.A128V	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	253						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GTGCGGCAGCGCGCCCGCCGC	0.682																																																	0								G	VAL/ALA	1,4401		0,1,2200	28	32	30		758	2.8	0	10		30	1,8597		0,1,4298	no	missense	CCDC3	NM_031455.3	64	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	benign	253/271	12940471	2,12998	2201	4299	6500	SO:0001583	missense	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.758C>T	10.37:g.12940471G>A	ENSP00000368102:p.Ala253Val		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.A253V	ENST00000378825.3	37	c.758	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934856	0.52866	2.27E-4	1.16E-4	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.88	2.8	0.32819	.	0.832849	0.10655	N	0.649380	T	0.24005	0.0581	L	0.44542	1.39	0.09310	N	1	P	0.43885	0.82	B	0.35413	0.202	T	0.07927	-1.0747	9	0.21540	T	0.41	-1.5668	6.0544	0.19802	0.0:0.1559:0.5338:0.3103	.	253	Q9BQI4	CCDC3_HUMAN	V	128;253	.	ENSP00000368102:A253V	A	-	2	0	CCDC3	12980477	0.000000	0.05858	0.001000	0.08648	0.485000	0.33311	0.134000	0.15932	1.040000	0.40099	0.561000	0.74099	GCG	CCDC3	-	NULL		0.682	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	G	NM_031455		12940471	-1	no_errors	ENST00000378825	ensembl	human	known	70_37	missense	SNP	0.004	A	A	12940471	G	A	12940471	3	1	117	1	0	0	0	0	1	0	0	0	2809	1087	38	2	58	2	CCDC3	10	12940471	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	780781	12940471	122594276	641	18109										
PRPF18	8559	genome.wustl.edu	37	chr10	13629114	13629114	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctgaaatcagagatccttCggaagcggcagctggtggag	14	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:13629114C>A	ENST00000378572.3	+	1	188	c.28C>A	c.(28-30)Cgg>Agg	p.R10R		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	10					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGAGATCCTTCGGAAGCGGCA	0.602																																																	0													100	108	105					10																	13629114		2203	4300	6503	SO:0001819	synonymous_variant	8559			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.28C>A	10.37:g.13629114C>A			Q5T9P9|Q9BUI9	Silent	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.R10	ENST00000378572.3	37	c.28	CCDS7100.1	10																																																																																			PRPF18	-	NULL		0.602	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	C			13629114	1	no_errors	ENST00000378572	ensembl	human	known	70_37	silent	SNP	0.995	A	A	13629114	C	A	13629114	2	1	117	1	0	0	0	0	0	0	0	1	12590	875	31	3		3	PRPF18	10	13629114	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	688643	13629114	121905633	642	18110										
NEBL	10529	genome.wustl.edu	37	chr10	21097533	21097533	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgtctccgagacctgtaccGaaagtactgctggaatggga	12	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:21097533G>A	ENST00000377122.4	-	26	3063	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	889	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCTGTACCGAAAGTACTGC	0.463																																																	0													139	130	133					10																	21097533		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2667C>T	10.37:g.21097533G>A			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.F889	ENST00000377122.4	37	c.2667	CCDS7134.1	10																																																																																			NEBL	-	NULL		0.463	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	G	NM_006393		21097533	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	silent	SNP	0.979	A	A	21097533	G	A	21097533	2	1	117	1	0	0	0	0	0	0	0	1	10327	1049	37	1		1	NEBL	10	21097533	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7468419	21097533	114437214	643	18111										
NEBL	10529	genome.wustl.edu	37	chr10	21098823	21098823	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatctgtgcgccaaactttGaggtcttttgccaaaaggaa	11	8	2	1	rs138206930		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:21098823G>A	ENST00000377122.4	-	25	2919	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	841	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCAAACTTTGAGGTCTTTTG	0.393																																																	0													81	81	81					10																	21098823		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2523C>T	10.37:g.21098823G>A			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.L841	ENST00000377122.4	37	c.2523	CCDS7134.1	10																																																																																			NEBL	-	NULL		0.393	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	G	NM_006393		21098823	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	silent	SNP	0.993	A	A	21098823	G	A	21098823	2	1	117	1	0	0	0	0	0	0	0	1	10327	1277	45	1		1	NEBL	10	21098823	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1290	21098823	114435924	644	18112										
SPAG6	9576	genome.wustl.edu	37	chr10	22634677	22634677	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagcaataccagaaggccagGacccagttcgtgcagatggt	13	10	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:22634677G>A	ENST00000376624.3	+	2	193	c.51G>A	c.(49-51)agG>agA	p.R17R	SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.R17R|SPAG6_ENST00000376603.2_Silent_p.R17R|SPAG6_ENST00000313311.6_Silent_p.R17R	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	17					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGAAGGCCAGGACCCAGTTCG	0.672																																																	0													44	38	40					10																	22634677		2203	4300	6503	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.51G>A	10.37:g.22634677G>A			A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.R17	ENST00000376624.3	37	c.51	CCDS7139.1	10																																																																																			SPAG6	-	NULL		0.672	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	G			22634677	1	no_errors	ENST00000376603	ensembl	human	known	70_37	silent	SNP	0.993	A	A	22634677	G	A	22634677	2	1	117	1	0	0	0	0	0	0	0	1	15012	1165	41	1		1	SPAG6	10	22634677	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1535854	22634677	112900070	645	18113										
MPP7	143098	genome.wustl.edu	37	chr10	28358735	28358735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccatagtgctgggtgtcactGatcagcagctttcgtttcag	11	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:28358735G>A	ENST00000375732.1	-	13	1429	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	MPP7_ENST00000445954.2_Silent_p.I265I|MPP7_ENST00000540098.1_Silent_p.I390I|MPP7_ENST00000337532.5_Silent_p.I390I|MPP7_ENST00000375719.3_Silent_p.I390I			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	390	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GGGTGTCACTGATCAGCAGCT	0.413																																																	0													127	90	103					10																	28358735		2203	4300	6503	SO:0001819	synonymous_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1170C>T	10.37:g.28358735G>A			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain	p.I390	ENST00000375732.1	37	c.1170	CCDS7158.1	10																																																																																			MPP7	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.413	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	G	NM_173496		28358735	-1	no_errors	ENST00000337532	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28358735	G	A	28358735	2	1	117	1	0	0	0	0	0	0	0	1	9762	1280	45	1		1	MPP7	10	28358735	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5724058	28358735	107176012	646	18114										
RASSF4	83937	genome.wustl.edu	37	chr10	45485136	45485136	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggtggaagatggccccagtGagttcgcactctacatcgtt	12	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:45485136G>C	ENST00000340258.5	+	8	765	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RASSF4_ENST00000334940.6_Missense_Mutation_p.E227Q|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	833					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.E218*(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGGCCCCAGTGAGTTCGCACT	0.547																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											143	112	123					10																	45485136		2203	4300	6503	SO:0001583	missense	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.652G>C	10.37:g.45485136G>C	ENSP00000339692:p.Glu218Gln		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E227Q	ENST00000340258.5	37	c.679	CCDS7208.1	10	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097819	0.76870	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.17370	2.28;2.28	5.83	4.93	0.64822	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.40365	-0.9567	10	0.66056	D	0.02	-35.3606	12.7099	0.57083	0.0793:0.0:0.9207:0.0	.	227;309;218	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	Q	227;218;309	ENSP00000334543:E227Q;ENSP00000339692:E218Q	ENSP00000334543:E227Q	E	+	1	0	RASSF4	44805142	1.000000	0.71417	0.873000	0.34254	0.683000	0.39861	8.036000	0.88901	1.473000	0.48159	0.650000	0.86243	GAG	RASSF4	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.547	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	G	NM_032023		45485136	1	no_errors	ENST00000334940	ensembl	human	known	70_37	missense	SNP	0.995	C	C	45485136	G	C	45485136	3	2	117	1	0	0	0	0	1	0	0	0	13118	1291	45	1	678	1	RASSF4	10	45485136	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	17126401	45485136	90049611	647	18115										
C10orf25	220979	genome.wustl.edu	37	chr10	45496289	45496289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagaaacgaacaacgctttCgggtgggcccgggaccatag	14	10	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:45496289C>T	ENST00000298298.1	-	1	47	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	CEP164P1_ENST00000456938.2_RNA|ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	7						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						ACAACGCTTTCGGGTGGGCCC	0.667																																																	0													13	14	13					10																	45496289		2190	4266	6456	SO:0001583	missense	220979			AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.19G>A	10.37:g.45496289C>T	ENSP00000298298:p.Glu7Lys		A1L424|Q96NM5	Missense_Mutation	SNP	NULL	p.E7K	ENST00000298298.1	37	c.19	CCDS31187.1	10	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362170	0.24684	.	.	ENSG00000165511	ENST00000298298	T	0.37752	1.18	2.66	1.69	0.24217	.	.	.	.	.	T	0.34279	0.0892	N	0.08118	0	0.23720	N	0.997023	D	0.89917	1.0	D	0.70227	0.968	T	0.14117	-1.0484	9	0.87932	D	0	.	7.0617	0.25129	0.0:0.6954:0.3046:0.0	.	7	Q5T742	CJ025_HUMAN	K	7	ENSP00000298298:E7K	ENSP00000298298:E7K	E	-	1	0	C10orf25	44816295	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.136000	0.10405	0.629000	0.30376	0.563000	0.77884	GAA	C10orf25	-	NULL		0.667	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf25	HGNC	protein_coding	OTTHUMT00000047763.1	C	NM_145022		45496289	-1	no_errors	ENST00000298298	ensembl	human	known	70_37	missense	SNP	0.004	T	T	45496289	C	T	45496289	3	4	117	1	0	0	0	0	1	0	0	0	1602	893	31	1	357	1	C10orf25	10	45496289	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	11153	45496289	90038458	648	18116										
FAM21C	253725	genome.wustl.edu	37	chr10	46282505	46282505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaatttagcgatcaacccagCggccttgctgcccacagcgg	10	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:46282505C>T	ENST00000336378.4	+	27	2946	c.2828C>T	c.(2827-2829)gCg>gTg	p.A943V	FAM21C_ENST00000374362.2_Missense_Mutation_p.A945V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A887V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A904V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A870V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	943					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATCAACCCAGCGGCCTTGCTG	0.438																																																	0													5	5	5					10																	46282505		1267	3106	4373	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2828C>T	10.37:g.46282505C>T	ENSP00000337541:p.Ala943Val		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.A945V	ENST00000336378.4	37	c.2834		10	.	.	.	.	.	.	.	.	.	.	.	17.93	3.510187	0.64522	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.36	3.36	0.38483	.	0.154834	0.56097	D	0.000025	T	0.77824	0.4188	M	0.81682	2.555	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;P;D;D;D	0.85130	0.997;0.665;0.994;0.984;0.984	T	0.80221	-0.1472	9	0.52906	T	0.07	-16.7297	12.5591	0.56271	0.0:1.0:0.0:0.0	.	904;156;870;945;943	B9EK53;B3KMC4;F5H871;Q9Y4E1-4;Q9Y4E1	.;.;.;.;FA21C_HUMAN	V	943;904;870;945;966;887;878	.	ENSP00000337541:A943V	A	+	2	0	FAM21C	45602511	1.000000	0.71417	0.998000	0.56505	0.586000	0.36452	3.940000	0.56599	1.887000	0.54652	0.491000	0.48974	GCG	FAM21C	-	NULL		0.438	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		C			46282505	1	no_errors	ENST00000374362	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46282505	C	T	46282505	3	4	117	1	0	0	0	0	1	0	0	0	5557	768	27	2	2940	2	FAM21C	10	46282505	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	786216	46282505	89252242	649	18117										
GPRIN2	9721	genome.wustl.edu	37	chr10	46998893	46998893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggcagccatgagctccagcCgccccgagccgggtccctgg	14	17	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:46998893C>T	ENST00000374317.1	+	3	286	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R5C	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	5			R -> H (in dbSNP:rs3127817). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9628581}.							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGCTCCAGCCGCCCCGAGCC	0.642																																																	0													50	69	62					10																	46998893		2178	4262	6440	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.13C>T	10.37:g.46998893C>T	ENSP00000363436:p.Arg5Cys		Q5SVF0	Missense_Mutation	SNP	NULL	p.R5C	ENST00000374317.1	37	c.13	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591664	0.46214	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03635	3.86;3.86	5.33	3.38	0.38709	.	1.094990	0.07068	N	0.834916	T	0.07413	0.0187	L	0.51422	1.61	0.29188	N	0.876053	D	0.67145	0.996	P	0.47705	0.555	T	0.28996	-1.0026	10	0.62326	D	0.03	-0.4433	8.1416	0.31086	0.0:0.7506:0.1592:0.0902	.	5	O60269	GRIN2_HUMAN	C	5	ENSP00000363436:R5C;ENSP00000363433:R5C	ENSP00000363433:R5C	R	+	1	0	GPRIN2	46418899	0.722000	0.28017	0.924000	0.36721	0.739000	0.42172	1.074000	0.30703	1.391000	0.46566	0.655000	0.94253	CGC	GPRIN2	-	NULL		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	C	NM_014696		46998893	1	no_errors	ENST00000374314	ensembl	human	known	70_37	missense	SNP	0.726	T	T	46998893	C	T	46998893	3	4	117	1	0	0	0	0	1	0	0	0	6750	652	23	2	15	2	GPRIN2	10	46998893	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	716388	46998893	88535854	650	18118										
PPYR1	5540	genome.wustl.edu	37	chr10	47086912	47086912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccgtggacgtgatggtcttCatcgtcacttcctacagcat	9	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:47086912C>A	ENST00000395716.1	+	2	214	c.129C>A	c.(127-129)ttC>ttA	p.F43L	NPY4R_ENST00000374312.1_Missense_Mutation_p.F43L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	43					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGATGGTCTTCATCGTCACTT	0.522																																																	0													235	206	216					10																	47086912		2203	4300	6503	SO:0001583	missense	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.129C>A	10.37:g.47086912C>A	ENSP00000379066:p.Phe43Leu		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.F43L	ENST00000395716.1	37	c.129	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466363	0.04476	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.34072	1.38;1.38	4.78	-0.347	0.12617	.	0.052212	0.85682	N	0.000000	T	0.25827	0.0629	M	0.71581	2.175	0.52501	D	0.999952	B	0.09022	0.002	B	0.09377	0.004	T	0.30504	-0.9976	10	0.02654	T	1	.	5.4739	0.16686	0.0:0.5266:0.1395:0.3339	.	43	P50391	NPY4R_HUMAN	L	43	ENSP00000363431:F43L;ENSP00000379066:F43L	ENSP00000363431:F43L	F	+	3	2	PPYR1	46506918	0.990000	0.36364	0.564000	0.28396	0.443000	0.32047	0.716000	0.25836	0.036000	0.15547	0.655000	0.94253	TTC	PPYR1	-	prints_NPY4_rcpt,prints_GPCR_Rhodpsn		0.522	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	C			47086912	1	no_errors	ENST00000374312	ensembl	human	known	70_37	missense	SNP	0.996	A	A	47086912	C	A	47086912	3	1	117	1	0	0	0	0	1	0	0	0	12443	825	29	3	131	3	PPYR1	10	47086912	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	88019	47086912	88447835	651	18119										
AGAP7	653268	genome.wustl.edu	37	chr10	51483213	51483213	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctggaatattgtgcttgcctCtggattggcagaagggttaa	13	6	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:51483213C>G	ENST00000374095.5	-	2	378	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		85					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GTGCTTGCCTCTGGATTGGCA	0.363																																																	0													9	9	9					10																	51483213		1602	3487	5089	SO:0001583	missense	653268																														ENST00000374095.5:c.253G>C	10.37:g.51483213C>G	ENSP00000363208:p.Glu85Gln		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E85Q	ENST00000374095.5	37	c.253	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	10.46	1.356881	0.24598	.	.	ENSG00000204169	ENST00000374095	D	0.88818	-2.43	0.589	-0.982	0.10266	.	0.189187	0.43747	D	0.000526	T	0.77018	0.4069	L	0.27053	0.805	0.09310	N	0.999994	P	0.42993	0.797	B	0.40825	0.341	T	0.70498	-0.4855	10	0.87932	D	0	.	2.1648	0.03834	0.0:0.2951:0.3277:0.3772	.	85	Q5VUJ5	AGAP7_HUMAN	Q	85	ENSP00000363208:E85Q	ENSP00000363208:E85Q	E	-	1	0	AGAP7	51153219	0.657000	0.27393	0.173000	0.22940	0.046000	0.14306	0.031000	0.13710	-0.352000	0.08237	0.175000	0.17021	GAG	AGAP7	-	NULL		0.363	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	C			51483213	-1	no_errors	ENST00000374095	ensembl	human	known	70_37	missense	SNP	0.991	G	G	51483213	C	G	51483213	3	3	117	1	0	0	0	0	1	0	0	0	373	922	32	1	1762	1	AGAP7	10	51483213	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4396301	51483213	84051534	652	18120										
AGAP6	414189	genome.wustl.edu	37	chr10	51769332	51769332	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acgcccactgtgtggactgtGagacccagaatcctaagtgg	12	11	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:51769332G>T	ENST00000374056.4	+	7	1776	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*	AGAP6_ENST00000412531.3_Nonsense_Mutation_p.E483*			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	460	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGTGGACTGTGAGACCCAGAA	0.562																																																	0																																										SO:0001587	stop_gained	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1378G>T	10.37:g.51769332G>T	ENSP00000363168:p.Glu460*			Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E483*	ENST00000374056.4	37	c.1447		10	.	.	.	.	.	.	.	.	.	.	.	37	6.447212	0.97572	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.472434	0.22644	N	0.057405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	.	.	.	X	483;460	.	ENSP00000363168:E483X	E	+	1	0	AGAP6	51439338	1.000000	0.71417	0.355000	0.25773	0.358000	0.29455	5.870000	0.69620	0.132000	0.18615	0.134000	0.15878	GAG	AGAP6	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.562	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		G	NM_001077665		51769332	1	no_errors	ENST00000374056	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	51769332	G	T	51769332	4	4	117	1	0	0	0	0	0	1	0	0	372	1291	45	3	1477	3	AGAP6	10	51769332	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	286119	51769332	83765415	653	18121										
PCDH15	65217	genome.wustl.edu	37	chr10	55591180	55591180	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtatcctagactttctcctCtctttttaatgctggtcact	5	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:55591180C>G	ENST00000320301.6	-	30	4491	c.4097G>C	c.(4096-4098)aGa>aCa	p.R1366T	PCDH15_ENST00000395432.2_Missense_Mutation_p.R1329T|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1344T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1373T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1373T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1366T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1295T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1366T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1371T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R977T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1366T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1366					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTTCTCCTCTCTTTTTAAT	0.478										HNSCC(58;0.16)																																							0													258	220	233					10																	55591180		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4097G>C	10.37:g.55591180C>G	ENSP00000322604:p.Arg1366Thr		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1366T	ENST00000320301.6	37	c.4097	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866091	0.71949	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.56611	0.52;0.56;0.51;0.51;0.47;0.47;0.45;0.48;0.46;0.45;0.46	5.75	4.75	0.60458	.	.	.	.	.	T	0.34019	0.0883	N	0.08118	0	0.33024	D	0.529264	P;P;P;B;P;P;P;B;B;B;B;B;P	0.41546	0.59;0.526;0.526;0.394;0.754;0.526;0.59;0.022;0.07;0.07;0.07;0.354;0.526	B;B;B;B;P;B;B;B;B;B;B;B;B	0.45913	0.334;0.179;0.179;0.119;0.497;0.179;0.334;0.053;0.076;0.076;0.076;0.179;0.179	T	0.35599	-0.9782	9	0.34782	T	0.22	.	4.0455	0.09771	0.0:0.6826:0.0:0.3174	.	1344;1366;1366;1371;1295;1329;1366;1366;1373;1373;1366;1371;1366	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1373;1371;1366;1366;977;1373;1329;1366;1344;1366;1366;1371;1295	ENSP00000363076:R1373T;ENSP00000410304:R1371T;ENSP00000378826:R1366T;ENSP00000386693:R977T;ENSP00000378832:R1373T;ENSP00000378820:R1329T;ENSP00000354950:R1366T;ENSP00000378821:R1344T;ENSP00000322604:R1366T;ENSP00000378818:R1366T;ENSP00000412628:R1295T	ENSP00000322604:R1366T	R	-	2	0	PCDH15	55261186	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.076000	0.64413	2.709000	0.92574	0.585000	0.79938	AGA	PCDH15	-	NULL		0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55591180	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55591180	C	G	55591180	3	3	117	1	0	0	0	0	1	0	0	0	11535	913	32	1	3405	1	PCDH15	10	55591180	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3821848	55591180	79943567	654	18122										
BICC1	80114	genome.wustl.edu	37	chr10	60573642	60573642	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgtgagcacttgggaggtgGaagcgaatctgataactgga	15	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:60573642G>T	ENST00000373886.3	+	18	2433	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V	BICC1_ENST00000263103.1_Missense_Mutation_p.G436V	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	810					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTGGGAGGTGGAAGCGAATCT	0.448																																																	0													173	159	164					10																	60573642		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2429G>T	10.37:g.60573642G>T	ENSP00000362993:p.Gly810Val			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.G810V	ENST00000373886.3	37	c.2429	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989595	0.93106	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.55588	1.5;0.51	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65911	-0.6053	10	0.42905	T	0.14	-15.1343	18.5214	0.90954	0.0:0.0:1.0:0.0	.	730;810	E7EU62;Q9H694	.;BICC1_HUMAN	V	810;436	ENSP00000362993:G810V;ENSP00000263103:G436V	ENSP00000263103:G436V	G	+	2	0	BICC1	60243648	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.707000	0.98725	2.814000	0.96858	0.655000	0.94253	GGA	BICC1	-	NULL		0.448	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	G	NM_025044		60573642	1	no_errors	ENST00000373886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60573642	G	T	60573642	3	4	117	1	0	0	0	0	1	0	0	0	1428	1174	41	3	2499	3	BICC1	10	60573642	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4982462	60573642	74961105	655	18123										
ANK3	288	genome.wustl.edu	37	chr10	61815703	61815703	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtaagattttgtctttgcttCtggagtgatttctgtatggc	11	5	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:61815703C>T	ENST00000280772.2	-	42	12969	c.12778G>A	c.(12778-12780)Gaa>Aaa	p.E4260K	ANK3_ENST00000373827.2_Missense_Mutation_p.E1744K|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.E884K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1751K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4260					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTCTTTGCTTCTGGAGTGATT	0.403																																																	0													151	148	149					10																	61815703		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12778G>A	10.37:g.61815703C>T	ENSP00000280772:p.Glu4260Lys		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E4260K	ENST00000280772.2	37	c.12778	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.311103	0.95629	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.70045	-0.21;-0.44;0.36;0.44;0.31;-0.45	5.89	5.89	0.94794	.	0.000000	0.43416	D	0.000568	T	0.72795	0.3505	L	0.27053	0.805	0.80722	D	1	B;B;B;P;B;B;P	0.47191	0.083;0.083;0.083;0.891;0.135;0.083;0.817	B;B;B;P;B;B;B	0.60012	0.016;0.016;0.016;0.867;0.059;0.016;0.217	T	0.72462	-0.4286	10	0.51188	T	0.08	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	1751;884;1744;4260;985;884;283	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	K	4260;1744;342;32;884;1751;1730;985	ENSP00000280772:E4260K;ENSP00000362933:E1744K;ENSP00000362926:E342K;ENSP00000423057:E32K;ENSP00000347436:E884K;ENSP00000425236:E1751K	ENSP00000280772:E4260K	E	-	1	0	ANK3	61485709	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.108000	0.50337	2.793000	0.96121	0.561000	0.74099	GAA	ANK3	-	NULL		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61815703	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61815703	C	T	61815703	3	4	117	1	0	0	0	0	1	0	0	0	622	922	32	1	363	1	ANK3	10	61815703	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1242061	61815703	73719044	656	18124										
ANK3	288	genome.wustl.edu	37	chr10	61815726	61815726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagtgatttctgtatggcttCcatttgcttcaaatttgcca	8	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:61815726C>T	ENST00000280772.2	-	42	12946	c.12755G>A	c.(12754-12756)gGa>gAa	p.G4252E	ANK3_ENST00000373827.2_Missense_Mutation_p.G1736E|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.G876E|ANK3_ENST00000503366.1_Missense_Mutation_p.G1743E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4252					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTATGGCTTCCATTTGCTTC	0.398																																																	0													118	116	117					10																	61815726		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12755G>A	10.37:g.61815726C>T	ENSP00000280772:p.Gly4252Glu		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G4252E	ENST00000280772.2	37	c.12755	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306476	0.81247	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.79352	-0.84;-1.26;0.49;0.32;-0.41;-1.24	5.89	5.89	0.94794	.	0.000000	0.41294	D	0.000903	T	0.81216	0.4776	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;B	0.71674	0.967;0.982;0.967;0.998;0.989;0.982;0.355	P;P;P;D;D;P;B	0.73708	0.622;0.834;0.622;0.981;0.92;0.834;0.1	T	0.82358	-0.0497	10	0.62326	D	0.03	.	15.0252	0.71663	0.1422:0.8578:0.0:0.0	.	1743;876;1736;4252;977;876;275	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	E	4252;1736;334;24;876;1743;1722;977	ENSP00000280772:G4252E;ENSP00000362933:G1736E;ENSP00000362926:G334E;ENSP00000423057:G24E;ENSP00000347436:G876E;ENSP00000425236:G1743E	ENSP00000280772:G4252E	G	-	2	0	ANK3	61485732	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.679000	0.61649	2.793000	0.96121	0.561000	0.74099	GGA	ANK3	-	NULL		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61815726	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61815726	C	T	61815726	3	4	117	1	0	0	0	0	1	0	0	0	622	855	30	1	386	1	ANK3	10	61815726	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	23	61815726	73719021	657	18125										
ANK3	288	genome.wustl.edu	37	chr10	61898737	61898737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtacctggcagaacgcgctCcgagactaaagcccatgtaa	10	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:61898737C>T	ENST00000280772.2	-	24	2914	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	ANK3_ENST00000373827.2_Missense_Mutation_p.G902E|ANK3_ENST00000355288.2_Missense_Mutation_p.G42E|ANK3_ENST00000460468.1_Missense_Mutation_p.G72E|ANK3_ENST00000503366.1_Missense_Mutation_p.G909E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	908					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAACGCGCTCCGAGACTAAA	0.428																																																	0													155	132	139					10																	61898737		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2723G>A	10.37:g.61898737C>T	ENSP00000280772:p.Gly908Glu		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G908E	ENST00000280772.2	37	c.2723	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.105050	0.94245	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049;ENST00000506635;ENST00000460468;ENST00000474360	T;T;T;T;T;T;T;T;T	0.63417	-0.04;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.91	5.91	0.95273	.	0.000000	0.42053	D	0.000768	T	0.78201	0.4246	L	0.56396	1.775	0.80722	D	1	B;D;B;B;B;D;P;D	0.89917	0.001;1.0;0.0;0.265;0.007;1.0;0.729;1.0	B;D;B;B;B;D;B;D	0.97110	0.004;1.0;0.0;0.144;0.005;0.999;0.236;0.998	T	0.77051	-0.2731	10	0.56958	D	0.05	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	909;42;548;431;902;908;143;42	E9PE32;A8KA62;E7EMJ1;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;.;ANK3_HUMAN;.;.	E	908;902;42;42;909;888;143;548;543;41;431;33;33;33;72;100	ENSP00000280772:G908E;ENSP00000362933:G902E;ENSP00000347436:G42E;ENSP00000425236:G909E;ENSP00000362921:G33E;ENSP00000426582:G33E;ENSP00000422506:G33E;ENSP00000426690:G72E;ENSP00000422657:G100E	ENSP00000280772:G908E	G	-	2	0	ANK3	61568743	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	GGA	ANK3	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61898737	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61898737	C	T	61898737	3	4	117	1	0	0	0	0	1	0	0	0	622	855	30	1	10803	1	ANK3	10	61898737	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	83011	61898737	73636010	658	18126										
ZNF365	22891	genome.wustl.edu	37	chr10	64239642	64239642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttttatgactaggagtctgCgattgtggaataatgaactt	10	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:64239642C>T	ENST00000395255.3	+	5	1269	c.989C>T	c.(988-990)gCg>gTg	p.A330V	ZNF365_ENST00000410046.3_Intron	NM_199450.2	NP_955522.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGAGTCTGCGATTGTGGAA	0.388																																																	0													151	154	153					10																	64239642		2088	4224	6312	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395255.3:c.989C>T	10.37:g.64239642C>T	ENSP00000378675:p.Ala330Val			Missense_Mutation	SNP	NULL	p.A330V	ENST00000395255.3	37	c.989	CCDS41531.1	10	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889281	0.33348	.	.	ENSG00000138311	ENST00000395255	.	.	.	4.16	2.25	0.28309	.	.	.	.	.	T	0.28699	0.0711	.	.	.	0.09310	N	1	B	0.26400	0.148	B	0.19666	0.026	T	0.25012	-1.0144	7	0.87932	D	0	.	5.1735	0.15122	0.2017:0.6929:0.0:0.1054	.	330	Q70YC5-2	.	V	330	.	ENSP00000378675:A330V	A	+	2	0	ZNF365	63909648	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.781000	0.04648	0.658000	0.30925	-0.126000	0.14955	GCG	ZNF365	-	NULL		0.388	ZNF365-004	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048240.1	C	NM_014951		64239642	1	no_errors	ENST00000395255	ensembl	human	known	70_37	missense	SNP	0.001	T	T	64239642	C	T	64239642	3	4	117	1	0	0	0	0	1	0	0	0	17899	768	27	2	1311	2	ZNF365	10	64239642	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2340905	64239642	71295105	659	18127										
TET1	80312	genome.wustl.edu	37	chr10	70332597	70332597	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagacacccaagtccttcctGatatagagactctaattggt	7	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:70332597G>C	ENST00000373644.4	+	2	711	c.502G>C	c.(502-504)Gat>Cat	p.D168H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	168					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTCCTTCCTGATATAGAGAC	0.398																																																	0													70	69	69					10																	70332597		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.502G>C	10.37:g.70332597G>C	ENSP00000362748:p.Asp168His		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.D168H	ENST00000373644.4	37	c.502	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	7.132	0.579994	0.13686	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.24	3.34	0.38264	.	1.741330	0.03330	N	0.193188	T	0.10294	0.0252	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.33085	-0.9882	10	0.66056	D	0.02	.	7.9372	0.29937	0.0866:0.3311:0.5823:0.0	.	168	Q8NFU7	TET1_HUMAN	H	168	ENSP00000362748:D168H	ENSP00000362748:D168H	D	+	1	0	TET1	70002603	0.377000	0.25106	0.002000	0.10522	0.013000	0.08279	2.323000	0.43823	0.566000	0.29273	-0.253000	0.11424	GAT	TET1	-	NULL		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70332597	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.001	C	C	70332597	G	C	70332597	3	2	117	1	0	0	0	0	1	0	0	0	15799	1290	45	1	504	1	TET1	10	70332597	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6092955	70332597	65202150	660	18128										
TET1	80312	genome.wustl.edu	37	chr10	70441196	70441196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttacagagtttggctacacGattagctccaatttataagc	7	9	0	1	rs536711369		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:70441196G>A	ENST00000373644.4	+	9	5074	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1622					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTACACGATTAGCTCCA	0.333													G|||	1	0.000199681	0	0	5008	,	,		18613	0		0	False		,,,				2504	0.001																0													85	85	85					10																	70441196		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4865G>A	10.37:g.70441196G>A	ENSP00000362748:p.Arg1622Gln		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.R1622Q	ENST00000373644.4	37	c.4865	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368102	0.24771	.	.	ENSG00000138336	ENST00000373644	T	0.11604	2.76	5.45	-0.795	0.10915	TET cysteine-rich domain (1);	4.046880	0.00357	N	0.000027	T	0.06371	0.0164	N	0.14661	0.345	0.09310	N	1	P	0.35600	0.511	B	0.33568	0.166	T	0.17137	-1.0379	10	0.27082	T	0.32	.	3.7216	0.08459	0.3816:0.0:0.3391:0.2793	.	1622	Q8NFU7	TET1_HUMAN	Q	1622	ENSP00000362748:R1622Q	ENSP00000362748:R1622Q	R	+	2	0	TET1	70111202	0.000000	0.05858	0.139000	0.22197	0.972000	0.66771	0.459000	0.21908	-0.442000	0.07190	-0.262000	0.10625	CGA	TET1	-	NULL		0.333	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70441196	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.002	A	A	70441196	G	A	70441196	3	1	117	1	0	0	0	0	1	0	0	0	15799	1058	37	1	4895	1	TET1	10	70441196	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	108599	70441196	65093551	661	18129										
TACR2	6865	genome.wustl.edu	37	chr10	71164665	71164665	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcctggggacgccccgcctCcccactggtagcctcggagg	13	17	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:71164665C>G	ENST00000373306.4	-	5	1657	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	TACR2_ENST00000373307.1_Missense_Mutation_p.E160Q	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	372					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGCCCCGCCTCCCCACTGGTA	0.567																																																	0													65	66	65					10																	71164665		2203	4300	6503	SO:0001583	missense	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.1114G>C	10.37:g.71164665C>G	ENSP00000362403:p.Glu372Gln		A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E372Q	ENST00000373306.4	37	c.1114	CCDS7293.1	10	.	.	.	.	.	.	.	.	.	.	C	0.184	-1.059116	0.01950	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.72167	0.09;-0.63	4.33	2.46	0.29980	.	1.412620	0.04326	N	0.351492	T	0.32704	0.0838	N	0.00237	-1.79	0.09310	N	0.99999	B	0.09022	0.002	B	0.06405	0.002	T	0.43261	-0.9402	10	0.07644	T	0.81	.	6.7086	0.23264	0.0:0.2349:0.589:0.1761	.	372	P21452	NK2R_HUMAN	Q	160;372	ENSP00000362404:E160Q;ENSP00000362403:E372Q	ENSP00000362403:E372Q	E	-	1	0	TACR2	70834671	0.007000	0.16637	0.189000	0.23252	0.005000	0.04900	0.685000	0.25378	0.752000	0.32923	0.655000	0.94253	GAG	TACR2	-	prints_NK2_rcpt		0.567	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1	C			71164665	-1	no_errors	ENST00000373306	ensembl	human	known	70_37	missense	SNP	0.624	G	G	71164665	C	G	71164665	3	3	117	1	0	0	0	0	1	0	0	0	15536	864	30	1	86	1	TACR2	10	71164665	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	723469	71164665	64370082	662	18130										
NODAL	4838	genome.wustl.edu	37	chr10	72195141	72195141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tactgcttggggtagatgatCcaggagccccatccgatcag	12	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:72195141C>A	ENST00000287139.3	-	2	791	c.792G>T	c.(790-792)tgG>tgT	p.W264C	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P30T	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	264					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGTAGATGATCCAGGAGCCCC	0.552																																																	0													102	83	89					10																	72195141		2203	4300	6503	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.792G>T	10.37:g.72195141C>A	ENSP00000287139:p.Trp264Cys		Q2M3A5|Q8N4V3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.W264C	ENST00000287139.3	37	c.792	CCDS7304.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310357|4.310357	0.81358|0.81358	.|.	.|.	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.93076	.|-3.16;-3.16	5.88|5.88	5.88|5.88	0.94601|0.94601	.|Transforming growth factor-beta, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98369|0.98369	0.9458|0.9458	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99357|0.99357	1.0916|1.0916	6|10	0.87932|0.87932	D|D	0|0	.|.	19.0137|19.0137	0.92884|0.92884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264	.|Q96S42	.|NODAL_HUMAN	T|C	30|264;209	.|ENSP00000287139:W264C;ENSP00000394468:W209C	ENSP00000411125:P30T|ENSP00000287139:W264C	P|W	+|-	1|3	0|0	AC022532.1|NODAL	71865147|71865147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.078000|7.078000	0.76821|0.76821	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	CCA|TGG	NODAL	-	pfam_TGF-b_C,smart_TGF-b_C		0.552	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	HGNC	protein_coding	OTTHUMT00000048511.1	C	NM_018055		72195141	-1	no_errors	ENST00000287139	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72195141	C	A	72195141	3	1	117	1	0	0	0	0	1	0	0	0	10542	856	30	3	259	3	NODAL	10	72195141	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1030476	72195141	63339606	663	18131										
CDH23	64072	genome.wustl.edu	37	chr10	73552953	73552953	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caacaggattctcagtccttCaagtcacagccacagatgag	8	12	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:73552953C>G	ENST00000224721.6	+	47	6288	c.6283C>G	c.(6283-6285)Caa>Gaa	p.Q2095E	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2090	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCAGTCCTTCAAGTCACAGC	0.527																																																	0													26	29	28					10																	73552953		1994	4170	6164	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6283C>G	10.37:g.73552953C>G	ENSP00000224721:p.Gln2095Glu		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q2093E	ENST00000224721.6	37	c.6277		10	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740229	0.49045	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.61	5.61	0.85477	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.46157	1.445	0.80722	D	1	B	0.33583	0.418	B	0.32393	0.145	T	0.40175	-0.9577	9	0.07482	T	0.82	.	14.481	0.67582	0.1469:0.8531:0.0:0.0	.	2090	Q9H251	CAD23_HUMAN	E	2095;2090;2093	.	ENSP00000224721:Q2095E	Q	+	1	0	CDH23	73222959	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.448000	0.66612	2.644000	0.89710	0.650000	0.86243	CAA	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.527	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	C	NM_052836		73552953	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73552953	C	G	73552953	3	3	117	1	0	0	0	0	1	0	0	0	3113	827	29	1	6799	1	CDH23	10	73552953	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1357812	73552953	61981794	664	18132										
USP54	159195	genome.wustl.edu	37	chr10	75277284	75277284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaccttgcctgtggaatgcaGagggttcaatgttgtctact	11	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:75277284G>C	ENST00000339859.4	-	19	3000	c.2900C>G	c.(2899-2901)tCt>tGt	p.S967C	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.S967C|USP54_ENST00000394811.2_Missense_Mutation_p.S55C|USP54_ENST00000428547.1_Missense_Mutation_p.S817C|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.S149C|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	967					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTGGAATGCAGAGGGTTCAAT	0.502																																					Colon(195;880 2046 8854 25025 38456)												0													105	92	96					10																	75277284		2203	4300	6503	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2900C>G	10.37:g.75277284G>C	ENSP00000345216:p.Ser967Cys		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S967C	ENST00000339859.4	37	c.2900	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473556	0.63737	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.37915	1.43;1.43;1.38;1.19;1.17	6.03	5.12	0.69794	.	.	.	.	.	T	0.54111	0.1838	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63192	0.912;0.594	T	0.58370	-0.7648	9	0.87932	D	0	-9.0972	15.0435	0.71811	0.0676:0.0:0.9324:0.0	.	149;967	E7EW90;Q70EL1	.;UBP54_HUMAN	C	967;967;817;55;149	ENSP00000345216:S967C;ENSP00000386080:S967C;ENSP00000408714:S817C;ENSP00000378290:S55C;ENSP00000407368:S149C	ENSP00000345216:S967C	S	-	2	0	USP54	74947290	1.000000	0.71417	0.971000	0.41717	0.933000	0.57130	4.053000	0.57427	1.551000	0.49450	0.655000	0.94253	TCT	USP54	-	NULL		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75277284	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	missense	SNP	0.981	C	C	75277284	G	C	75277284	3	2	117	1	0	0	0	0	1	0	0	0	17116	942	33	1	2174	1	USP54	10	75277284	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1724331	75277284	60257463	665	18133										
DLG5	9231	genome.wustl.edu	37	chr10	79572015	79572015	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgaggccagcctggtgagcGatgctccccacggtcacctt	12	15	1	1	rs568757709		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:79572015G>A	ENST00000372391.2	-	21	4151	c.4146C>T	c.(4144-4146)atC>atT	p.I1382I	DLG5_ENST00000372388.2_Silent_p.I1042I|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1382	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGGTGAGCGATGCTCCCCA	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		18523	0		0	False		,,,				2504	0																0													106	92	97					10																	79572015		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4146C>T	10.37:g.79572015G>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.I1382	ENST00000372391.2	37	c.4146	CCDS7353.2	10																																																																																			DLG5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79572015	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	1.000	A	A	79572015	G	A	79572015	2	1	117	1	0	0	0	0	0	0	0	1	4568	1048	37	1		1	DLG5	10	79572015	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4294731	79572015	55962732	666	18134										
DLG5	9231	genome.wustl.edu	37	chr10	79601771	79601771	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acctggtcacgctcactcatGatgagcttgtactcgctgta	9	12	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:79601771G>A	ENST00000372391.2	-	7	1310	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	DLG5_ENST00000372388.2_Silent_p.I435I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	435					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCACTCATGATGAGCTTGT	0.562																																																	0													164	118	134					10																	79601771		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1305C>T	10.37:g.79601771G>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.I435	ENST00000372391.2	37	c.1305	CCDS7353.2	10																																																																																			DLG5	-	NULL		0.562	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79601771	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	1.000	A	A	79601771	G	A	79601771	2	1	117	1	0	0	0	0	0	0	0	1	4568	1280	45	1		1	DLG5	10	79601771	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	29756	79601771	55932976	667	18135										
NRG3	10718	genome.wustl.edu	37	chr10	84733553	84733553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atttcccacagtattcaaagGtggaaaggcatcctgtgact	9	9	1	1	rs142991883		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:84733553G>T	ENST00000404547.1	+	7	1294	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	NRG3_ENST00000545131.1_Missense_Mutation_p.V82L|NRG3_ENST00000372142.2_Missense_Mutation_p.V211L|NRG3_ENST00000556918.1_Missense_Mutation_p.V262L|NRG3_ENST00000372141.2_Missense_Mutation_p.V432L|NRG3_ENST00000404576.2_Missense_Mutation_p.V236L|NRG3_ENST00000537893.1_Missense_Mutation_p.V82L			P56975	NRG3_HUMAN	neuregulin 3	432					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTATTCAAAGGTGGAAAGGCA	0.473																																																	0													127	113	118					10																	84733553		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1294G>T	10.37:g.84733553G>T	ENSP00000384796:p.Val432Leu		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.V432L	ENST00000404547.1	37	c.1294	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605860	0.46527	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54279	1.43;1.49;0.58;0.58;0.58;0.58;0.58	5.95	3.89	0.44902	.	0.596543	0.15802	N	0.243918	T	0.30135	0.0755	N	0.14661	0.345	0.21020	N	0.99981	B;B;B;B	0.19706	0.004;0.038;0.004;0.004	B;B;B;B	0.18871	0.009;0.023;0.013;0.009	T	0.08351	-1.0726	10	0.38643	T	0.18	-33.1932	3.2253	0.06730	0.2324:0.0:0.5603:0.2074	.	431;432;211;432	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	L	432;432;431;211;236;262;82;82	ENSP00000361214:V432L;ENSP00000384796:V432L;ENSP00000361215:V211L;ENSP00000385804:V236L;ENSP00000451376:V262L;ENSP00000441201:V82L;ENSP00000440377:V82L	ENSP00000361214:V432L	V	+	1	0	NRG3	84723533	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	1.052000	0.30429	1.524000	0.49035	0.650000	0.86243	GTG	NRG3	-	NULL		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	G	XM_166086		84733553	1	no_errors	ENST00000404547	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84733553	G	T	84733553	3	4	117	1	0	0	0	0	1	0	0	0	10673	1261	44	4	1488	4	NRG3	10	84733553	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5131782	84733553	50801194	668	18136										
CDHR1	92211	genome.wustl.edu	37	chr10	85974065	85974065	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accatccgcattgagtggctCaagtccaagagcaccaaagc	9	13	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:85974065C>G	ENST00000372117.3	+	17	2371	c.2268C>G	c.(2266-2268)ctC>ctG	p.L756L	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Silent_p.L460L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	756					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTGAGTGGCTCAAGTCCAAGA	0.572																																																	0													65	61	62					10																	85974065		2203	4300	6503	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2268C>G	10.37:g.85974065C>G			Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L756	ENST00000372117.3	37	c.2268	CCDS7372.1	10																																																																																			CDHR1	-	NULL		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	C	NM_033100		85974065	1	no_errors	ENST00000372117	ensembl	human	known	70_37	silent	SNP	0.999	G	G	85974065	C	G	85974065	2	3	117	1	0	0	0	0	0	0	0	1	3123	813	29	1		1	CDHR1	10	85974065	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1240512	85974065	49560682	669	18137										
GRID1	2894	genome.wustl.edu	37	chr10	87898651	87898651	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcgtgtcccggtagcgattCagctcctctgtcttcatcgt	10	13	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:87898651C>G	ENST00000327946.7	-	4	736	c.651G>C	c.(649-651)ctG>ctC	p.L217L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	217					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGTAGCGATTCAGCTCCTCTG	0.592										Multiple Myeloma(13;0.14)																																							0													208	178	188					10																	87898651		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.651G>C	10.37:g.87898651C>G			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L217	ENST00000327946.7	37	c.651	CCDS31236.1	10																																																																																			GRID1	-	pfam_ANF_lig-bd_rcpt		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	C	XM_043613		87898651	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	silent	SNP	1.000	G	G	87898651	C	G	87898651	2	3	117	1	0	0	0	0	0	0	0	1	6791	813	29	1		1	GRID1	10	87898651	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1924586	87898651	47636096	670	18138										
FAM35A	54537	genome.wustl.edu	37	chr10	88911721	88911721	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtgtgtgccaacagaatatCatgaaatacaaaaccagtgt	8	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:88911721C>T	ENST00000298784.1	+	3	724	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	FAM35A_ENST00000298786.4_Missense_Mutation_p.H204Y|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	204										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AACAGAATATCATGAAATACA	0.398																																					Ovarian(175;703 2004 25460 32514 43441)												0													25	27	26					10																	88911721		2140	4185	6325	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.610C>T	10.37:g.88911721C>T	ENSP00000298784:p.His204Tyr		O95885|Q9H991	Missense_Mutation	SNP	NULL	p.H204Y	ENST00000298784.1	37	c.610	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	c	12.83	2.055417	0.36277	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.22336	1.97;1.96;1.96	4.09	3.18	0.36537	.	0.859130	0.09810	N	0.752918	T	0.20333	0.0489	L	0.51422	1.61	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.19811	-1.0294	10	0.62326	D	0.03	-3.2495	7.9658	0.30098	0.0:0.8097:0.0:0.1903	.	204	Q86V20	FA35A_HUMAN	Y	204	ENSP00000298786:H204Y;ENSP00000298784:H204Y;ENSP00000351064:H204Y	ENSP00000298784:H204Y	H	+	1	0	FAM35A	88901701	0.003000	0.15002	0.007000	0.13788	0.579000	0.36224	0.860000	0.27871	0.948000	0.37687	0.537000	0.68136	CAT	FAM35A	-	NULL		0.398	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	C	NM_019054		88911721	1	no_errors	ENST00000298786	ensembl	human	known	70_37	missense	SNP	0.006	T	T	88911721	C	T	88911721	3	4	117	1	0	0	0	0	1	0	0	0	5571	826	29	1	612	1	FAM35A	10	88911721	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1013070	88911721	46623026	671	18139										
HECTD2	143279	genome.wustl.edu	37	chr10	93261075	93261075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actttaaaatctcaaagaatGaaacttctactaactggtaa	4	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:93261075G>A	ENST00000298068.5	+	20	2288	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	HECTD2_ENST00000446394.1_Missense_Mutation_p.E736K|HECTD2_ENST00000536715.1_Missense_Mutation_p.E321K|HECTD2_ENST00000371667.1_Missense_Mutation_p.E382K	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	732	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTCAAAGAATGAAACTTCTAC	0.333																																					NSCLC(12;376 469 1699 39910 41417)												0													87	89	88					10																	93261075		2203	4300	6503	SO:0001583	missense	143279			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2194G>A	10.37:g.93261075G>A	ENSP00000298068:p.Glu732Lys		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.E736K	ENST00000298068.5	37	c.2206	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943659	0.53079	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.73	5.73	0.89815	HECT (4);	0.051290	0.85682	D	0.000000	T	0.45577	0.1349	L	0.37800	1.135	0.53688	D	0.999976	B;B	0.24317	0.009;0.101	B;B	0.28916	0.044;0.096	T	0.32402	-0.9908	10	0.11794	T	0.64	.	18.0766	0.89428	0.0:0.0:1.0:0.0	.	736;732	E7ERR3;Q5U5R9	.;HECD2_HUMAN	K	736;732;321;382	ENSP00000401023:E736K;ENSP00000298068:E732K;ENSP00000439687:E321K;ENSP00000360731:E382K	ENSP00000298068:E732K	E	+	1	0	HECTD2	93251055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.114000	0.94329	2.699000	0.92147	0.655000	0.94253	GAA	HECTD2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.333	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	G			93261075	1	no_errors	ENST00000446394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93261075	G	A	93261075	3	1	117	1	0	0	0	0	1	0	0	0	7060	1291	45	1	2296	1	HECTD2	10	93261075	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4349354	93261075	42273672	672	18140										
FRA10AC1	118924	genome.wustl.edu	37	chr10	95458071	95458071	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accatacctatccagcaattCtgctgcaacttgtttatggg	7	11	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:95458071C>G	ENST00000359204.4	-	3	357	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E54Q|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E54Q|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E54Q	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	54						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCCAGCAATTCTGCTGCAACT	0.338																																																	0													127	123	124					10																	95458071		2203	4300	6503	SO:0001583	missense	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.160G>C	10.37:g.95458071C>G	ENSP00000360488:p.Glu54Gln		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.E54Q	ENST00000359204.4	37	c.160	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817307	0.32145	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.24350	1.9;1.89;1.86;1.88	5.71	5.71	0.89125	.	0.449072	0.28301	N	0.015858	T	0.25717	0.0626	L	0.43152	1.355	0.27338	N	0.956596	P;P;B	0.38420	0.63;0.63;0.242	B;B;B	0.34652	0.187;0.101;0.043	T	0.10590	-1.0623	10	0.34782	T	0.22	-24.6587	19.8712	0.96852	0.0:1.0:0.0:0.0	.	54;54;54	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	Q	54	ENSP00000360488:E54Q;ENSP00000438405:E54Q;ENSP00000360484:E54Q;ENSP00000377660:E54Q	ENSP00000360488:E54Q	E	-	1	0	FRA10AC1	95448061	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.600000	0.54052	2.713000	0.92767	0.655000	0.94253	GAA	FRA10AC1	-	NULL		0.338	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	C	NM_145246		95458071	-1	no_errors	ENST00000359204	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95458071	C	G	95458071	3	3	117	1	0	0	0	0	1	0	0	0	6059	922	32	1	835	1	FRA10AC1	10	95458071	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2196996	95458071	40076676	673	18141										
PLCE1	51196	genome.wustl.edu	37	chr10	96066416	96066416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcagcggtaactgctcagaGaatcattccactgaaagctt	8	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96066416G>C	ENST00000371380.3	+	25	6090	c.5855G>C	c.(5854-5856)aGa>aCa	p.R1952T	PLCE1_ENST00000260766.3_Missense_Mutation_p.R1952T|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1644T|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1644T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1952	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGCTCAGAGAATCATTCCA	0.378																																																	0													73	65	67					10																	96066416		1861	4123	5984	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5855G>C	10.37:g.96066416G>C	ENSP00000360431:p.Arg1952Thr		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1952T	ENST00000371380.3	37	c.5855	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928300	0.92389	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.54302	-0.8314	10	0.87932	D	0	.	19.2269	0.93821	0.0:0.0:1.0:0.0	.	1936;1644;1952	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	1952;1952;1644;1644	ENSP00000260766:R1952T;ENSP00000360431:R1952T;ENSP00000360438:R1644T;ENSP00000360426:R1644T	ENSP00000260766:R1952T	R	+	2	0	PLCE1	96056406	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.701000	0.98710	2.721000	0.93114	0.655000	0.94253	AGA	PLCE1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.378	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96066416	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96066416	G	C	96066416	3	2	117	1	0	0	0	0	1	0	0	0	12058	942	33	1	6239	1	PLCE1	10	96066416	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	608345	96066416	39468331	674	18142										
NOC3L	64318	genome.wustl.edu	37	chr10	96100229	96100229	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaagcagtctggacacagtGaagactttcttgatagctta	9	7	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96100229G>A	ENST00000371361.3	-	15	1769	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	NOC3L_ENST00000371350.1_Missense_Mutation_p.H557Y|NOC3L_ENST00000543788.1_Missense_Mutation_p.H295Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	557					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGGACACAGTGAAGACTTTCT	0.343																																																	0													58	59	58					10																	96100229		2203	4298	6501	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1669C>T	10.37:g.96100229G>A	ENSP00000360412:p.His557Tyr		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.H557Y	ENST00000371361.3	37	c.1669	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286759	0.80803	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.22134	1.97;1.97;1.97	5.71	5.71	0.89125	CCAAT-binding factor (1);	0.113500	0.64402	D	0.000003	T	0.39358	0.1075	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.08351	-1.0726	10	0.05959	T	0.93	-12.5023	19.8677	0.96824	0.0:0.0:1.0:0.0	.	557	Q8WTT2	NOC3L_HUMAN	Y	295;557;557	ENSP00000437838:H295Y;ENSP00000360412:H557Y;ENSP00000360401:H557Y	ENSP00000360401:H557Y	H	-	1	0	NOC3L	96090219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.709000	0.92574	0.655000	0.94253	CAC	NOC3L	-	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3		0.343	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	G	NM_022451		96100229	-1	no_errors	ENST00000371350	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96100229	G	A	96100229	3	1	117	1	0	0	0	0	1	0	0	0	10538	1290	45	1	761	1	NOC3L	10	96100229	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	33813	96100229	39434518	675	18143										
C10orf129	142827	genome.wustl.edu	37	chr10	96974621	96974621	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctccagctacagattcaaGagtctgaagcagtgtgtggc	11	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96974621G>C	ENST00000394005.3	+	7	1017	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	C10orf129_ENST00000341686.3_Missense_Mutation_p.K336N|C10orf129_ENST00000430183.1_Intron			Q6P461	ACSM6_HUMAN		336					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACAGATTCAAGAGTCTGAAGC	0.463																																																	0													73	74	73					10																	96974621		692	1591	2283	SO:0001583	missense	142827																														ENST00000394005.3:c.1008G>C	10.37:g.96974621G>C	ENSP00000377573:p.Lys336Asn		A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K336N	ENST00000394005.3	37	c.1008	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127410	0.37533	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.10573	2.86;2.86	0.885	0.885	0.19188	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.07863	0.0197	L	0.38175	1.15	0.80722	D	1	B	0.30236	0.274	B	0.29663	0.105	T	0.29671	-1.0004	9	0.28530	T	0.3	.	7.771	0.29008	0.0:0.0:1.0:0.0	.	336	Q6P461	ACSM6_HUMAN	N	362;336;336	ENSP00000340296:K336N;ENSP00000377573:K336N	ENSP00000340296:K336N	K	+	3	2	C10orf129	96964611	0.980000	0.34600	0.813000	0.32504	0.963000	0.63663	0.562000	0.23531	0.814000	0.34374	0.447000	0.29281	AAG	C10orf129	-	pfam_AMP-dep_Synth/Lig		0.463	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	G			96974621	1	no_errors	ENST00000341686	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96974621	G	C	96974621	3	2	117	1	0	0	0	0	1	0	0	0	1597	933	33	1	1034	1	C10orf129	10	96974621	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	874392	96974621	38560126	676	18144										
C10orf129	142827	genome.wustl.edu	37	chr10	96974727	96974727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgaaggctatgggcagacgGaaactgtaggttgatgctga	15	5	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96974727G>A	ENST00000394005.3	+	7	1123	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C10orf129_ENST00000341686.3_Missense_Mutation_p.E372K|C10orf129_ENST00000430183.1_Intron			Q6P461	ACSM6_HUMAN		372					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGGCAGACGGAAACTGTAGG	0.493																																																	0													130	127	128					10																	96974727		692	1591	2283	SO:0001583	missense	142827																														ENST00000394005.3:c.1114G>A	10.37:g.96974727G>A	ENSP00000377573:p.Glu372Lys		A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E372K	ENST00000394005.3	37	c.1114	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875757	0.72180	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	D;D	0.81499	-1.5;-1.5	0.885	-1.77	0.07982	AMP-dependent synthetase/ligase (1);	.	.	.	.	D	0.87301	0.6143	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82165	-0.0592	9	0.87932	D	0	.	3.0369	0.06126	0.2016:0.0:0.5428:0.2557	.	372	Q6P461	ACSM6_HUMAN	K	398;372;372	ENSP00000340296:E372K;ENSP00000377573:E372K	ENSP00000340296:E372K	E	+	1	0	C10orf129	96964717	1.000000	0.71417	0.056000	0.19401	0.931000	0.56810	3.301000	0.51842	-0.590000	0.05866	0.447000	0.29281	GAA	C10orf129	-	pfam_AMP-dep_Synth/Lig		0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	G			96974727	1	no_errors	ENST00000341686	ensembl	human	known	70_37	missense	SNP	0.977	A	A	96974727	G	A	96974727	3	1	117	1	0	0	0	0	1	0	0	0	1597	1175	41	1	1140	1	C10orf129	10	96974727	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	106	96974727	38560020	677	18145										
TLL2	7093	genome.wustl.edu	37	chr10	98182458	98182458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atatggcctgtgggcctcctCctcggcgcccaacataggag	12	14	0	0	rs545429177		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:98182458C>T	ENST00000357947.3	-	6	890	c.665G>A	c.(664-666)gGa>gAa	p.G222E	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	222	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGGCCTCCTCCTCGGCGCCC	0.557																																																	0													125	100	109					10																	98182458		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.665G>A	10.37:g.98182458C>T	ENSP00000350630:p.Gly222Glu		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G222E	ENST00000357947.3	37	c.665	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759056	0.89843	.	.	ENSG00000095587	ENST00000357947	T	0.67865	-0.29	5.64	4.74	0.60224	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.44688	D	0.000424	T	0.76969	0.4062	M	0.93898	3.47	0.80722	D	1	B	0.33857	0.429	B	0.37422	0.249	T	0.80939	-0.1158	10	0.87932	D	0	.	13.8157	0.63290	0.0:0.9265:0.0:0.0735	.	222	Q9Y6L7	TLL2_HUMAN	E	222	ENSP00000350630:G222E	ENSP00000350630:G222E	G	-	2	0	TLL2	98172448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.383000	0.46405	0.655000	0.94253	GGA	TLL2	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like		0.557	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98182458	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98182458	C	T	98182458	3	4	117	1	0	0	0	0	1	0	0	0	15976	855	30	1	2446	1	TLL2	10	98182458	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1207731	98182458	37352289	678	18146										
CRTAC1	55118	genome.wustl.edu	37	chr10	99677323	99677323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagaatgccccgggagaggtCactggcctcagggtccattt	13	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:99677323C>T	ENST00000370597.3	-	5	1004	c.649G>A	c.(649-651)Gac>Aac	p.D217N	CRTAC1_ENST00000298819.4_Missense_Mutation_p.D217N|CRTAC1_ENST00000370591.2_Missense_Mutation_p.D217N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	217						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGGGAGAGGTCACTGGCCTCA	0.547																																																	0													59	50	53					10																	99677323		2203	4300	6503	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.649G>A	10.37:g.99677323C>T	ENSP00000359629:p.Asp217Asn		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.D217N	ENST00000370597.3	37	c.649	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509631	0.44660	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.28	5.28	0.74379	.	0.050966	0.85682	D	0.000000	T	0.16599	0.0399	L	0.34521	1.04	0.51012	D	0.9999	B;B;B	0.19583	0.037;0.022;0.034	B;B;B	0.19391	0.024;0.011;0.025	T	0.05733	-1.0867	10	0.25106	T	0.35	-35.7139	12.291	0.54819	0.0:0.9223:0.0:0.0777	.	217;217;113	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	N	113;217;217;209;217	ENSP00000408445:D113N;ENSP00000359629:D217N;ENSP00000298819:D217N;ENSP00000310810:D209N;ENSP00000359623:D217N	ENSP00000298819:D217N	D	-	1	0	CRTAC1	99667313	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.869000	0.56062	2.473000	0.83533	0.467000	0.42956	GAC	CRTAC1	-	NULL		0.547	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	C	NM_018058		99677323	-1	no_errors	ENST00000370597	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99677323	C	T	99677323	3	4	117	1	0	0	0	0	1	0	0	0	3901	826	29	1	1380	1	CRTAC1	10	99677323	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1494865	99677323	35857424	679	18147										
MRPL43	84545	genome.wustl.edu	37	chr10	102746715	102746715	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttgcagtggatgctctcctCgcgcacagccccgttaactg	10	15	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:102746715C>A	ENST00000318325.2	-	3	309	c.256G>T	c.(256-258)Gag>Tag	p.E86*	MRPL43_ENST00000299179.5_Nonsense_Mutation_p.E86*|MRPL43_ENST00000370241.3_Nonsense_Mutation_p.E86*|MRPL43_ENST00000370234.4_Nonsense_Mutation_p.E86*|RP11-108L7.4_ENST00000447344.1_RNA|C10orf2_ENST00000370228.1_5'Flank|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000318364.8_Nonsense_Mutation_p.E86*|C10orf2_ENST00000311916.2_5'Flank|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000370236.1_Nonsense_Mutation_p.E86*|MRPL43_ENST00000342071.1_Nonsense_Mutation_p.E86*|MRPL43_ENST00000370242.4_Nonsense_Mutation_p.E86*	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	86					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ATGCTCTCCTCGCGCACAGCC	0.637																																																	0													41	35	37					10																	102746715		2203	4300	6503	SO:0001587	stop_gained	84545			AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"Mitochondrial ribosomal proteins / large subunits"	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.256G>T	10.37:g.102746715C>A	ENSP00000315364:p.Glu86*		B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Nonsense_Mutation	SNP	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH	p.E86*	ENST00000318325.2	37	c.256	CCDS7502.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.827736|5.827736	0.96996|0.96996	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000318325;ENST00000370241;ENST00000370242;ENST00000299179;ENST00000342071;ENST00000370236;ENST00000318364;ENST00000370234|ENST00000523148	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77363	.|0.4119	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|4	0.09590|0.52906	T|T	0.72|0.07	-15.3256|-15.3256	18.3198|18.3198	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	86|42	.|.	ENSP00000299179:E86X|ENSP00000430369:R42L	E|R	-|-	1|2	0|0	MRPL43|MRPL43	102736705|102736705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	7.756000|7.756000	0.85195|0.85195	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	GAG|CGA	MRPL43	-	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH		0.637	MRPL43-002	KNOWN	basic|CCDS	protein_coding	MRPL43	HGNC	protein_coding	OTTHUMT00000049902.1	C			102746715	-1	no_errors	ENST00000370242	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	102746715	C	A	102746715	4	1	117	1	0	0	0	0	0	1	0	0	9830	893	31	3	634	3	MRPL43	10	102746715	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3069392	102746715	32788032	680	18148										
C10orf2	56652	genome.wustl.edu	37	chr10	102749583	102749583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acaaatatgatcactgggctGaccgctttgaggacctgccc	10	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:102749583G>A	ENST00000311916.2	+	2	1611	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.D476N|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000318325.2_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	476	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCACTGGGCTGACCGCTTTGA	0.522																																																	0													142	140	140					10																	102749583		2203	4300	6503	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1426G>A	10.37:g.102749583G>A	ENSP00000309595:p.Asp476Asn		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.D476N	ENST00000311916.2	37	c.1426	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766574	0.90020	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	T;D	0.94000	-0.3;-3.33	6.04	6.04	0.98038	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	M	0.68317	2.08	0.58432	D	0.999999	D;P	0.89917	1.0;0.941	D;P	0.87578	0.998;0.84	D	0.95167	0.8286	10	0.41790	T	0.15	-21.4512	19.1729	0.93588	0.0:0.0:1.0:0.0	.	476;476	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	N	476	ENSP00000309595:D476N;ENSP00000359248:D476N	ENSP00000309595:D476N	D	+	1	0	C10orf2	102739573	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	7.990000	0.88215	2.873000	0.98535	0.563000	0.77884	GAC	C10orf2	-	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C		0.522	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	G	NM_021830		102749583	1	no_errors	ENST00000311916	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102749583	G	A	102749583	3	1	117	1	0	0	0	0	1	0	0	0	1601	1290	45	1	1432	1	C10orf2	10	102749583	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2868	102749583	32785164	681	18149										
DPCD	25911	genome.wustl.edu	37	chr10	103368688	103368688	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacgccaactgcaccctgatCatctctgtaagattcaccca	5	16	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:103368688C>T	ENST00000370151.4	+	5	550	c.501C>T	c.(499-501)atC>atT	p.I167I	DPCD_ENST00000370147.1_3'UTR|FBXW4_ENST00000470093.1_5'Flank	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	167					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GCACCCTGATCATCTCTGTAA	0.507																																																	0													170	155	160					10																	103368688		2203	4300	6503	SO:0001819	synonymous_variant	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.501C>T	10.37:g.103368688C>T			A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Silent	SNP	NULL	p.I167	ENST00000370151.4	37	c.501	CCDS7514.1	10																																																																																			DPCD	-	NULL		0.507	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	C			103368688	1	no_errors	ENST00000370151	ensembl	human	known	70_37	silent	SNP	0.991	T	T	103368688	C	T	103368688	2	4	117	1	0	0	0	0	0	0	0	1	4721	816	29	1		1	DPCD	10	103368688	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	619105	103368688	32166059	682	18150										
LDB1	8861	genome.wustl.edu	37	chr10	103867963	103867963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggagttgttaaagctgtcctCgtcgtcaatgccgttggctg	13	9	1	0	rs531176307		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:103867963C>T	ENST00000425280.1	-	11	1465	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	LDB1_ENST00000361198.5_Missense_Mutation_p.E339K|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	375					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.E339K(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		AAGCTGTCCTCGTCGTCAATG	0.617													C|||	1	0.000199681	0	0	5008	,	,		16271	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)											195	155	169					10																	103867963		2203	4300	6503	SO:0001583	missense	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1123G>A	10.37:g.103867963C>T	ENSP00000392466:p.Glu375Lys		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.E375K	ENST00000425280.1	37	c.1123	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.126940	0.94429	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.57907	0.37;0.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64997	1.995	0.80722	D	1	D	0.61697	0.99	B	0.38616	0.277	T	0.50701	-0.8797	10	0.16896	T	0.51	5.1559	19.3761	0.94510	0.0:1.0:0.0:0.0	.	375	Q86U70	LDB1_HUMAN	K	339;375	ENSP00000354616:E339K;ENSP00000392466:E375K	ENSP00000354616:E339K	E	-	1	0	LDB1	103857953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.683000	0.91414	0.455000	0.32223	GAG	LDB1	-	NULL		0.617	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		C	NM_001113407		103867963	-1	no_errors	ENST00000425280	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103867963	C	T	103867963	3	4	117	1	0	0	0	0	1	0	0	0	8715	893	31	1	116	1	LDB1	10	103867963	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	499275	103867963	31666784	683	18151										
LDB1	8861	genome.wustl.edu	37	chr10	103868034	103868035	+	Missense_Mutation	DNP	CC	CC	TT													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgagcctctcgtcctcgtccCcgaactccccgcccatcagg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:103868034_103868035CC>TT	ENST00000425280.1	-	11	1393_1394	c.1051_1052GG>AA	c.(1051-1053)GGg>AAg	p.G351K	LDB1_ENST00000361198.5_Missense_Mutation_p.G315K|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCCTCGTCCCCGAACTCCCCG	0.634																																																	0																																										SO:0001583	missense	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1051_1052delinsTT	10.37:g.103868034_103868035delinsTT	ENSP00000392466:p.Gly351Lys		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.G351E|p.G351R	ENST00000425280.1	37	c.1052|c.1051	CCDS44472.1	10																																																																																			LDB1	-	NULL		0.634	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		C	NM_001113407		103868034|103868035	-1	no_errors	ENST00000425280	ensembl	human	known	70_37	missense	SNP	1.000	T	TT	103868035	CC	TT	103868034	3	4	117	1	0	0	0	0	1	0	0	0	8715	623	22	4	187	4	LDB1	10	103868034	Missense_Mutation	DNP	CC	TCGA-EK-A3GK-01A-11D-A20U-09	71	103868034	31666713	684	18152										
PSD	5662	genome.wustl.edu	37	chr10	104176302	104176302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccggctgccaggtagggccGagcctcctctggcggggagt	17	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:104176302G>A	ENST00000020673.5	-	2	1020	c.494C>T	c.(493-495)tCg>tTg	p.S165L	PSD_ENST00000406432.1_Missense_Mutation_p.S165L|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	165	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTAGGGCCGAGCCTCCTCT	0.662																																																	0													20	23	22					10																	104176302		2202	4300	6502	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.494C>T	10.37:g.104176302G>A	ENSP00000020673:p.Ser165Leu		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.S165L	ENST00000020673.5	37	c.494	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781278	0.16120	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.22134	1.97;1.97	4.74	3.81	0.43845	.	0.235797	0.27720	N	0.018122	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23619	-1.0183	10	0.28530	T	0.3	.	6.3152	0.21186	0.0977:0.1894:0.7129:0.0	.	165	A5PKW4	PSD1_HUMAN	L	165;68;165	ENSP00000020673:S165L;ENSP00000384830:S165L	ENSP00000020673:S165L	S	-	2	0	PSD	104166292	0.428000	0.25522	0.045000	0.18777	0.170000	0.22686	2.848000	0.48278	1.195000	0.43115	0.561000	0.74099	TCG	PSD	-	NULL		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104176302	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.033	A	A	104176302	G	A	104176302	3	1	117	1	0	0	0	0	1	0	0	0	12673	1059	37	1	2644	1	PSD	10	104176302	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	308268	104176302	31358445	685	18153										
C10orf79	80217	genome.wustl.edu	37	chr10	105990417	105990417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagaggttttagcttccggtCagaaaaagccacaacttcac	9	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:105990417C>G	ENST00000278064.2	-	2	365	c.40G>C	c.(40-42)Gac>Cac	p.D14H	WDR96_ENST00000369720.1_Missense_Mutation_p.D14H|WDR96_ENST00000357060.3_Missense_Mutation_p.D84H|WDR96_ENST00000428666.1_Missense_Mutation_p.D84H|WDR96_ENST00000369719.1_Missense_Mutation_p.D14H																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCTTCCGGTCAGAAAAAGCC	0.418																																																	0													123	113	116					10																	105990417		2203	4300	6503	SO:0001583	missense	80217																														ENST00000278064.2:c.40G>C	10.37:g.105990417C>G	ENSP00000278064:p.Asp14His			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.D84H	ENST00000278064.2	37	c.250		10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353806	0.82243	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.37761	N	0.001948	T	0.43634	0.1256	M	0.70595	2.14	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.43015	-0.9417	10	0.72032	D	0.01	.	18.1677	0.89733	0.0:1.0:0.0:0.0	.	84;84;84	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	H	84;84;14;14;14	ENSP00000349568:D84H;ENSP00000400289:D84H;ENSP00000278064:D14H;ENSP00000358734:D14H;ENSP00000358733:D14H	ENSP00000278064:D14H	D	-	1	0	WDR96	105980407	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	6.761000	0.74945	2.289000	0.77006	0.484000	0.47621	GAC	WDR96	-	superfamily_Quino_amine_DH_bsu		0.418	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1	C			105990417	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105990417	C	G	105990417	3	3	117	1	0	0	0	0	1	0	0	0	1622	826	29	1	4895	1	C10orf79	10	105990417	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1814115	105990417	29544330	686	18154										
GPAM	57678	genome.wustl.edu	37	chr10	113915685	113915685	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgcaacttttgcagatactCaggttctggaacaggaccac	10	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:113915685C>T	ENST00000348367.4	-	20	2445	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	GPAM_ENST00000423155.1_Missense_Mutation_p.E750K|GPAM_ENST00000369425.1_3'UTR			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	750					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCAGATACTCAGGTTCTGGA	0.393																																					Ovarian(161;1017 2606 18293 52943)												0													98	90	93					10																	113915685		2203	4300	6503	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2248G>A	10.37:g.113915685C>T	ENSP00000265276:p.Glu750Lys		Q5VW51|Q86TA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E750K	ENST00000348367.4	37	c.2248	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683678	0.68157	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	T;T	0.70869	-0.52;-0.52	5.08	5.08	0.68730	.	0.062472	0.64402	D	0.000005	T	0.66218	0.2767	L	0.59436	1.845	0.58432	D	0.999993	P	0.46987	0.888	B	0.40165	0.321	T	0.65183	-0.6230	10	0.18276	T	0.48	-19.7715	17.0217	0.86435	0.0:1.0:0.0:0.0	.	750	Q9HCL2	GPAT1_HUMAN	K	750	ENSP00000265276:E750K;ENSP00000409242:E750K	ENSP00000265276:E750K	E	-	1	0	GPAM	113905675	1.000000	0.71417	0.784000	0.31847	0.841000	0.47740	6.949000	0.75971	2.507000	0.84556	0.655000	0.94253	GAG	GPAM	-	NULL		0.393	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	C	NM_020918		113915685	-1	no_errors	ENST00000348367	ensembl	human	known	70_37	missense	SNP	0.996	T	T	113915685	C	T	113915685	3	4	117	1	0	0	0	0	1	0	0	0	6607	835	29	1	250	1	GPAM	10	113915685	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7925268	113915685	21619062	687	18155										
NHLRC2	374354	genome.wustl.edu	37	chr10	115661612	115661612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgagaaccgtttcactgaaaGatggagcagtgaagcacctc	11	9	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:115661612G>C	ENST00000369301.3	+	7	1539	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	443										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTCACTGAAAGATGGAGCAGT	0.507																																																	0													152	152	152					10																	115661612		2203	4300	6503	SO:0001583	missense	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1327G>C	10.37:g.115661612G>C	ENSP00000358307:p.Asp443His		Q8N1H1|Q8N5A6	Missense_Mutation	SNP	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.D443H	ENST00000369301.3	37	c.1327	CCDS7585.1	10	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888086	0.91814	.	.	ENSG00000196865	ENST00000369301	D	0.90444	-2.67	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.95514	0.8588	10	0.66056	D	0.02	-20.7793	19.6767	0.95936	0.0:0.0:1.0:0.0	.	443	Q8NBF2	NHLC2_HUMAN	H	443	ENSP00000358307:D443H	ENSP00000358307:D443H	D	+	1	0	NHLRC2	115651602	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	9.827000	0.99397	2.634000	0.89283	0.655000	0.94253	GAT	NHLRC2	-	NULL		0.507	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1	G	NM_198514		115661612	1	no_errors	ENST00000369301	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115661612	G	C	115661612	3	2	117	1	0	0	0	0	1	0	0	0	10430	942	33	1	1353	1	NHLRC2	10	115661612	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1745927	115661612	19873135	688	18156										
SLC18A2	6571	genome.wustl.edu	37	chr10	119036742	119036742	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaataatatccagtcatatCcgataggtgaagatgaagaa	9	5	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:119036742C>G	ENST00000298472.5	+	16	1653	c.1510C>G	c.(1510-1512)Ccg>Gcg	p.P504A	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	504					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCAGTCATATCCGATAGGTGA	0.343																																																	0													92	91	92					10																	119036742		2203	4300	6503	SO:0001583	missense	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1510C>G	10.37:g.119036742C>G	ENSP00000298472:p.Pro504Ala		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P504A	ENST00000298472.5	37	c.1510	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222930	0.39300	.	.	ENSG00000165646	ENST00000298472	T	0.03982	3.74	5.96	5.96	0.96718	.	0.268738	0.38663	N	0.001604	T	0.11965	0.0291	L	0.52905	1.665	0.35132	D	0.768079	P	0.51351	0.944	P	0.52424	0.698	T	0.01512	-1.1336	10	0.62326	D	0.03	-20.9187	13.5885	0.61946	0.0:0.9293:0.0:0.0707	.	504	Q05940	VMAT2_HUMAN	A	504	ENSP00000298472:P504A	ENSP00000298472:P504A	P	+	1	0	SLC18A2	119026732	0.907000	0.30839	0.890000	0.34922	0.762000	0.43233	2.760000	0.47581	2.814000	0.96858	0.655000	0.94253	CCG	SLC18A2	-	NULL		0.343	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	C	NM_003054		119036742	1	no_errors	ENST00000298472	ensembl	human	known	70_37	missense	SNP	0.990	G	G	119036742	C	G	119036742	3	3	117	1	0	0	0	0	1	0	0	0	14456	855	30	1	1568	1	SLC18A2	10	119036742	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3375130	119036742	16498005	689	18157										
C10orf84	63877	genome.wustl.edu	37	chr10	120095732	120095732	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattccagaaggacactcttCataggcatttacatttgact	6	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:120095732C>T	ENST00000369183.4	-	3	455	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	FAM204A_ENST00000369172.4_Missense_Mutation_p.E66K|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	66										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						GGACACTCTTCATAGGCATTT	0.398																																																	0													164	151	155					10																	120095732		2203	4300	6503	SO:0001583	missense	63877			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 84"	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.196G>A	10.37:g.120095732C>T	ENSP00000358183:p.Glu66Lys		D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	NULL	p.E66K	ENST00000369183.4	37	c.196	CCDS7605.1	10	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842838	0.32606	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	5.98	4.14	0.48551	.	0.319207	0.32416	N	0.006129	T	0.58481	0.2125	M	0.76574	2.34	0.39669	D	0.970733	B	0.10296	0.003	B	0.11329	0.006	T	0.57820	-0.7745	9	0.51188	T	0.08	-11.4704	6.5508	0.22433	0.0:0.693:0.1483:0.1587	.	66	Q9H8W3	F204A_HUMAN	K	66	.	ENSP00000358168:E66K	E	-	1	0	FAM204A	120085722	0.037000	0.19845	0.998000	0.56505	0.423000	0.31445	-0.012000	0.12699	0.866000	0.35629	0.591000	0.81541	GAA	FAM204A	-	NULL		0.398	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM204A	HGNC	protein_coding	OTTHUMT00000050596.2	C	NM_022063		120095732	-1	no_errors	ENST00000369172	ensembl	human	known	70_37	missense	SNP	0.863	T	T	120095732	C	T	120095732	3	4	117	1	0	0	0	0	1	0	0	0	1625	835	29	1	533	1	C10orf84	10	120095732	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1058990	120095732	15439015	690	18158										
PLEKHA1	59338	genome.wustl.edu	37	chr10	124177418	124177418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtgttcatctctggtagatGaaaaactggaagagaagata	11	4	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124177418G>A	ENST00000368990.3	+	8	746	c.615G>A	c.(613-615)atG>atA	p.M205I	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.M205I|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.M205I|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.M205I|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.M205I	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	205	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGTAGATGAAAAACTGGA	0.343																																																	0													83	79	80					10																	124177418		2203	4300	6503	SO:0001583	missense	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.615G>A	10.37:g.124177418G>A	ENSP00000357986:p.Met205Ile		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M205I	ENST00000368990.3	37	c.615	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808948	0.50421	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.11560	0.145	0.80722	D	1	P;P	0.50443	0.935;0.895	D;P	0.66084	0.941;0.638	T	0.29518	-1.0009	10	0.10377	T	0.69	-25.526	20.0007	0.97408	0.0:0.0:1.0:0.0	.	205;205	B3KQ55;Q9HB21	.;PKHA1_HUMAN	I	205	ENSP00000357986:M205I;ENSP00000357985:M205I;ENSP00000357984:M205I;ENSP00000438608:M205I;ENSP00000394416:M205I	ENSP00000357984:M205I	M	+	3	0	PLEKHA1	124167408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.305000	0.96197	2.726000	0.93360	0.650000	0.86243	ATG	PLEKHA1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124177418	1	no_errors	ENST00000368990	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124177418	G	A	124177418	3	1	117	1	0	0	0	0	1	0	0	0	12079	1290	45	1	641	1	PLEKHA1	10	124177418	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4081686	124177418	11357329	691	18159										
PLEKHA1	59338	genome.wustl.edu	37	chr10	124177430	124177430	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtagatgaaaaactggaaGagaagatattttcaattgga	11	2	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124177430G>A	ENST00000368990.3	+	8	758	c.627G>A	c.(625-627)aaG>aaA	p.K209K	PLEKHA1_ENST00000368988.1_Silent_p.K209K|PLEKHA1_ENST00000433307.1_Silent_p.K209K|PLEKHA1_ENST00000368989.2_Silent_p.K209K|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000538022.1_Silent_p.K209K	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	209	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAAACTGGAAGAGAAGATATT	0.333																																																	0													90	85	87					10																	124177430		2203	4300	6503	SO:0001819	synonymous_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.627G>A	10.37:g.124177430G>A			B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K209	ENST00000368990.3	37	c.627	CCDS7629.1	10																																																																																			PLEKHA1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.333	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124177430	1	no_errors	ENST00000368990	ensembl	human	known	70_37	silent	SNP	1.000	A	A	124177430	G	A	124177430	2	1	117	1	0	0	0	0	0	0	0	1	12079	933	33	1		1	PLEKHA1	10	124177430	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	12	124177430	11357317	692	18160										
FAM24A	118670	genome.wustl.edu	37	chr10	124672381	124672381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaccaccatggagtcttgtCcatctctccagtgctgtgaa	8	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124672381C>T	ENST00000368894.1	+	3	350	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	77						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		GGAGTCTTGTCCATCTCTCCA	0.517																																																	0													171	124	140					10																	124672381		2203	4300	6503	SO:0001583	missense	118670				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.229C>T	10.37:g.124672381C>T	ENSP00000357889:p.Pro77Ser			Missense_Mutation	SNP	NULL	p.P77S	ENST00000368894.1	37	c.229	CCDS31304.1	10	.	.	.	.	.	.	.	.	.	.	C	7.103	0.574491	0.13623	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.57	-0.609	0.11608	.	0.617761	0.12477	N	0.465512	T	0.19886	0.0478	L	0.27053	0.805	0.09310	N	1	B	0.28713	0.22	B	0.23574	0.047	T	0.14144	-1.0483	9	0.39692	T	0.17	.	4.8273	0.13423	0.0:0.3188:0.4483:0.2329	.	77	A6NFZ4	FA24A_HUMAN	S	77	.	ENSP00000357889:P77S	P	+	1	0	FAM24A	124662371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	-0.107000	0.12088	-0.311000	0.09066	CCA	FAM24A	-	NULL		0.517	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM24A	HGNC	protein_coding	OTTHUMT00000050824.1	C	XM_058332		124672381	1	no_errors	ENST00000368894	ensembl	human	known	70_37	missense	SNP	0.000	T	T	124672381	C	T	124672381	3	4	117	1	0	0	0	0	1	0	0	0	5562	855	30	1	235	1	FAM24A	10	124672381	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	494951	124672381	10862366	693	18161										
CTBP2	1488	genome.wustl.edu	37	chr10	126683113	126683113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcaaggagacgcagtcgctCtgatacagcaaatcctgcag	11	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:126683113C>G	ENST00000337195.5	-	7	1104	c.705G>C	c.(703-705)caG>caC	p.Q235H	CTBP2_ENST00000531469.1_Missense_Mutation_p.Q235H|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q235H|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q303H|CTBP2_ENST00000309035.6_Missense_Mutation_p.Q775H|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q235H	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	235					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCAGTCGCTCTGATACAGCA	0.483																																																	0													89	82	84					10																	126683113		2203	4300	6503	SO:0001583	missense	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.705G>C	10.37:g.126683113C>G	ENSP00000338615:p.Gln235His		A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.Q775H	ENST00000337195.5	37	c.2325	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121472	0.37436	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.21	5.21	0.72293	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	L	0.28400	0.85	0.58432	D	0.999999	B;B;B	0.25521	0.006;0.128;0.005	B;B;B	0.20577	0.009;0.03;0.008	T	0.68534	-0.5383	10	0.49607	T	0.09	.	12.1607	0.54103	0.0:0.9215:0.0:0.0785	.	235;775;303	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	H	235;775;303;235;235;235	ENSP00000338615:Q235H;ENSP00000311825:Q775H;ENSP00000357816:Q303H;ENSP00000434630:Q235H;ENSP00000436285:Q235H;ENSP00000410474:Q235H	ENSP00000311825:Q775H	Q	-	3	2	CTBP2	126673103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.133000	0.50531	2.428000	0.82296	0.561000	0.74099	CAG	CTBP2	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.483	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	C	NM_001083914		126683113	-1	no_errors	ENST00000309035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	126683113	C	G	126683113	3	3	117	1	0	0	0	0	1	0	0	0	4003	912	32	1	652	1	CTBP2	10	126683113	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2010732	126683113	8851634	694	18162										
JAKMIP3	282973	genome.wustl.edu	37	chr10	133955450	133955450	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccaaggaggagacggagctGaggttccggcagctgaccat	16	10	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:133955450G>C	ENST00000298622.4	+	10	1638	c.1500G>C	c.(1498-1500)ctG>ctC	p.L500L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	500						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGACGGAGCTGAGGTTCCGGC	0.627																																																	0													94	64	74					10																	133955450		2198	4293	6491	SO:0001819	synonymous_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1500G>C	10.37:g.133955450G>C			A6PW00|Q69YM6|Q6ZT29	Silent	SNP	NULL	p.L500	ENST00000298622.4	37	c.1500	CCDS44494.1	10																																																																																			JAKMIP3	-	NULL		0.627	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133955450	1	no_errors	ENST00000298622	ensembl	human	known	70_37	silent	SNP	1.000	C	C	133955450	G	C	133955450	2	2	117	1	0	0	0	0	0	0	0	1	7962	1277	45	1		1	JAKMIP3	10	133955450	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7272337	133955450	1579297	695	18163										
C10orf93	54777	genome.wustl.edu	37	chr10	134743130	134743130	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgtggcctggtgaactgctCttcctttctttgccttttgt	9	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:134743130C>A	ENST00000368585.3	-	9	1383	c.1045G>T	c.(1045-1047)Gag>Tag	p.E349*	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGAACTGCTCTTCCTTTCTT	0.537																																																	0													139	123	128					10																	134743130		2203	4300	6503	SO:0001587	stop_gained	54777																														ENST00000368585.3:c.1045G>T	10.37:g.134743130C>A	ENSP00000357574:p.Glu349*			Nonsense_Mutation	SNP	NULL	p.E349*	ENST00000368585.3	37	c.1045		10	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716948	0.68844	.	.	ENSG00000171811	ENST00000368585	.	.	.	2.1	-4.2	0.03823	.	7.065580	0.00725	U	0.000913	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	10.5589	0.45133	0.0:0.7829:0.0:0.2171	.	.	.	.	X	349	.	ENSP00000357574:E349X	E	-	1	0	C10orf93	134593120	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.228000	0.02948	-1.244000	0.02516	-1.149000	0.01842	GAG	TTC40	-	NULL		0.537	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051099.1	C			134743130	-1	no_errors	ENST00000368585	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	134743130	C	A	134743130	4	1	117	1	0	0	0	0	0	1	0	0	1629	922	32	3	176	3	C10orf93	10	134743130	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	787680	134743130	791617	696	18164										
RIC8A	60626	genome.wustl.edu	37	chr11	213324	213324	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accctgtgaccgggagggtgGaggagaagccgcctaaccct	15	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:213324G>T	ENST00000526104.1	+	9	2725	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*	RIC8A_ENST00000325207.5_Nonsense_Mutation_p.E467*|RIC8A_ENST00000527696.1_Nonsense_Mutation_p.E455*			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	461					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGGAGGGTGGAGGAGAAGCC	0.557																																																	0													106	78	88					11																	213324		2203	4300	6503	SO:0001587	stop_gained	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1381G>T	11.37:g.213324G>T	ENSP00000432008:p.Glu461*		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Nonsense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.E467*	ENST00000526104.1	37	c.1399		11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	35|35|35	5.463545|5.463545|5.463545	0.96257|0.96257|0.96257	.|.|.	.|.|.	ENSG00000177963|ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696|ENST00000524854|ENST00000529275	.|.|.	.|.|.	.|.|.	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|.	0.051899|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.74268|0.74268	.|0.3694|0.3694	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.72786|0.72786	.|-0.4188|-0.4188	.|3|3	0.52906|.|.	T|.|.	0.07|.|.	-23.4254|-23.4254|-23.4254	18.2202|18.2202|18.2202	0.89899|0.89899|0.89899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	461;467;455|68|46	.|.|.	ENSP00000325941:E467X|.|.	E|G|W	+|+|+	1|2|3	0|0|0	RIC8A|RIC8A|RIC8A	203324|203324|203324	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.817000|7.817000|7.817000	0.86213|0.86213|0.86213	2.727000|2.727000|2.727000	0.93392|0.93392|0.93392	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|GGA|TGG	RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8		0.557	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	G	NM_021932		213324	1	no_errors	ENST00000325207	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	213324	G	T	213324	4	4	117	1	0	0	0	0	0	1	0	0	13385	1175	41	3	1433	3	RIC8A	11	213324	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		213324	134793192	697	18165										
RASSF7	8045	genome.wustl.edu	37	chr11	562206	562206	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcgatgtccagtttgtcctGaggcgcacagggcccagcct	13	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:562206G>A	ENST00000397583.3	+	3	685	c.252G>A	c.(250-252)ctG>ctA	p.L84L	RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Silent_p.L84L|RASSF7_ENST00000454668.2_Silent_p.L84L|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000431809.1_Silent_p.L84L|RASSF7_ENST00000344375.4_Silent_p.L84L	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	84	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTTGTCCTGAGGCGCACAG	0.652																																					Pancreas(184;1170 3913 7268)												0													46	45	45					11																	562206		2203	4300	6503	SO:0001819	synonymous_variant	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.252G>A	11.37:g.562206G>A			G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	NULL	p.E83K	ENST00000397583.3	37	c.247	CCDS7702.1	11																																																																																			RASSF7	-	NULL		0.652	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	G	NM_003475		562206	1	no_errors	ENST00000414138	ensembl	human	known	70_37	missense	SNP	1.000	A	A	562206	G	A	562206	2	1	117	1	0	0	0	0	0	0	0	1	13121	1277	45	1		1	RASSF7	11	562206	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	348882	562206	134444310	698	18166										
CDHR5	53841	genome.wustl.edu	37	chr11	619042	619042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggcctcagagttgtgccaGagggtggatgagggcctgtg	19	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:619042G>A	ENST00000358353.3	-	14	1839	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F	CDHR5_ENST00000397542.2_Missense_Mutation_p.S506F|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	506					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGTTGTGCCAGAGGGTGGATG	0.687																																																	0													35	46	42					11																	619042		2202	4293	6495	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1517C>T	11.37:g.619042G>A	ENSP00000351118:p.Ser506Phe		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.S506F	ENST00000358353.3	37	c.1517	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582857	0.65992	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.47177	0.85;0.85	3.97	-0.362	0.12560	.	3.356490	0.01598	N	0.021907	T	0.32376	0.0827	N	0.14661	0.345	0.09310	N	1	D;D	0.53745	0.962;0.962	P;P	0.49276	0.605;0.605	T	0.24083	-1.0170	10	0.09843	T	0.71	1.7911	1.5169	0.02508	0.1896:0.1632:0.4799:0.1672	.	500;506	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	F	506	ENSP00000380676:S506F;ENSP00000351118:S506F	ENSP00000351118:S506F	S	-	2	0	CDHR5	609042	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-0.200000	0.09478	-0.149000	0.11215	0.561000	0.74099	TCT	CDHR5	-	NULL		0.687	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	G	NM_021924		619042	-1	no_errors	ENST00000358353	ensembl	human	known	70_37	missense	SNP	0.000	A	A	619042	G	A	619042	3	1	117	1	0	0	0	0	1	0	0	0	3127	942	33	1	1032	1	CDHR5	11	619042	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	56836	619042	134387474	699	18167										
MUC5B	727897	genome.wustl.edu	37	chr11	1269671	1269671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggctctgtggccaccccctCttccaccccaggaacagctc	8	20	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1269671C>A	ENST00000529681.1	+	31	11619	c.11561C>A	c.(11560-11562)tCt>tAt	p.S3854Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3857Y|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3854	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCCCCTCTTCCACCCCA	0.647																																																	0													109	125	120					11																	1269671		2060	4166	6226	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11561C>A	11.37:g.1269671C>A	ENSP00000436812:p.Ser3854Tyr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S3857Y	ENST00000529681.1	37	c.11570	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	4.873	0.162337	0.09287	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18174	2.23;2.42	1.98	1.98	0.26296	.	.	.	.	.	T	0.29288	0.0729	M	0.72894	2.215	0.09310	N	1	D;D	0.54964	0.969;0.969	P;P	0.53912	0.737;0.737	T	0.06826	-1.0805	9	0.87932	D	0	.	7.7042	0.28640	0.2496:0.7504:0.0:0.0	.	4382;3857	A7Y9J9;E9PBJ0	.;.	Y	3854;3857;3798;3759	ENSP00000436812:S3854Y;ENSP00000415793:S3857Y	ENSP00000343037:S3798Y	S	+	2	0	MUC5B	1226247	0.000000	0.05858	0.012000	0.15200	0.038000	0.13279	-0.348000	0.07740	1.456000	0.47831	0.194000	0.17425	TCT	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1269671	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.009	A	A	1269671	C	A	1269671	3	1	117	1	0	0	0	0	1	0	0	0	10002	913	32	3	11692	3	MUC5B	11	1269671	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	650629	1269671	133736845	700	18168			5	81		4	4	1588	C		5.779924e-05
MUC5B	727897	genome.wustl.edu	37	chr11	1270922	1270922	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atccacggccaccccgtcctCcaccccgggaacagctcccc	7	23	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1270922C>G	ENST00000529681.1	+	31	12870	c.12812C>G	c.(12811-12813)tCc>tGc	p.S4271C	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4274C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4271	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCGTCCTCCACCCCGGGA	0.642																																																	0													121	139	133					11																	1270922		2087	4188	6275	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12812C>G	11.37:g.1270922C>G	ENSP00000436812:p.Ser4271Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4274C	ENST00000529681.1	37	c.12821	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.096	-0.407183	0.04832	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18810	2.19;2.38	1.92	1.92	0.25849	.	.	.	.	.	T	0.17152	0.0412	L	0.57536	1.79	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.31337	0.128;0.128	T	0.18808	-1.0325	9	0.87932	D	0	.	10.977	0.47472	0.0:1.0:0.0:0.0	.	4744;4274	A7Y9J9;E9PBJ0	.;.	C	4271;4274;4215;4121;50	ENSP00000436812:S4271C;ENSP00000415793:S4274C	ENSP00000343037:S4215C	S	+	2	0	MUC5B	1227498	0.001000	0.12720	0.001000	0.08648	0.224000	0.24922	1.130000	0.31393	1.092000	0.41356	0.064000	0.15345	TCC	MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1270922	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.001	G	G	1270922	C	G	1270922	3	3	117	1	0	0	0	0	1	0	0	0	10002	855	30	1	12943	1	MUC5B	11	1270922	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1251	1270922	133735594	701	18169			5	81		4	4	1588	C		5.779924e-05
MUC5B	727897	genome.wustl.edu	37	chr11	1271112	1271112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcctccacccttgggaccacCgggaccctcccagaacagac	8	19	0	2	rs372427592		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1271112C>T	ENST00000529681.1	+	31	13060	c.13002C>T	c.(13000-13002)acC>acT	p.T4334T	MUC5B_ENST00000447027.1_Silent_p.T4337T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4334	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGGGACCACCGGGACCCTCC	0.617																																																	0								C		0,4318		0,0,2159	201	226	218		13002	-3.5	0	11		218	1,8495		0,1,4247	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6406	TT,TC,CC		0.0118,0.0,0.0078		4334/5763	1271112	1,12813	2159	4248	6407	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13002C>T	11.37:g.1271112C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4337	ENST00000529681.1	37	c.13011	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1271112	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1271112	C	T	1271112	2	4	117	1	0	0	0	0	0	0	0	1	10002	639	23	2		2	MUC5B	11	1271112	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	190	1271112	133735404	702	18170			5	81		4	4	1588	C		5.779924e-05
MUC5B	727897	genome.wustl.edu	37	chr11	1271258	1271258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagttccacgtccaccccctCctccactccggggacgacct	7	21	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1271258C>T	ENST00000529681.1	+	31	13206	c.13148C>T	c.(13147-13149)tCc>tTc	p.S4383F	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4386F|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4383	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACCCCCTCCTCCACTCCG	0.662																																																	0													106	120	115					11																	1271258		2103	4204	6307	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13148C>T	11.37:g.1271258C>T	ENSP00000436812:p.Ser4383Phe		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4386F	ENST00000529681.1	37	c.13157	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	5.780	0.328185	0.10956	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19806	2.12;2.31	1.89	1.89	0.25635	.	.	.	.	.	T	0.16041	0.0386	L	0.43152	1.355	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.38106	0.265;0.265	T	0.14727	-1.0462	9	0.87932	D	0	.	7.8532	0.29468	0.0:1.0:0.0:0.0	.	4856;4386	A7Y9J9;E9PBJ0	.;.	F	4383;4386;4327;4233;162	ENSP00000436812:S4383F;ENSP00000415793:S4386F	ENSP00000343037:S4327F	S	+	2	0	MUC5B	1227834	0.001000	0.12720	0.007000	0.13788	0.063000	0.16089	1.126000	0.31344	1.032000	0.39892	0.064000	0.15345	TCC	MUC5B	-	NULL		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1271258	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.024	T	T	1271258	C	T	1271258	3	4	117	1	0	0	0	0	1	0	0	0	10002	855	30	1	13279	1	MUC5B	11	1271258	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	146	1271258	133735258	703	18171			5	81		4	4	1588	C		5.779924e-05
OSBPL5	114879	genome.wustl.edu	37	chr11	3114171	3114171	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcttccagggcatgaggctCtcctgccgctcacgggcccg	14	16	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:3114171C>G	ENST00000263650.7	-	18	2217	c.2058G>C	c.(2056-2058)gaG>gaC	p.E686D	OSBPL5_ENST00000389989.3_Missense_Mutation_p.E618D|OSBPL5_ENST00000478260.1_Missense_Mutation_p.E140D|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E317D|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E597D|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E618D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	686					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCATGAGGCTCTCCTGCCGCT	0.657																																																	0													43	34	37					11																	3114171		2191	4288	6479	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2058G>C	11.37:g.3114171C>G	ENSP00000263650:p.Glu686Asp		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E686D	ENST00000263650.7	37	c.2058	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	4.297	0.054279	0.08291	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	4.06	3.15	0.36227	.	0.262165	0.31859	N	0.006949	T	0.27349	0.0671	L	0.47190	1.495	0.29594	N	0.848213	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.008;0.008;0.008	T	0.15206	-1.0445	10	0.25106	T	0.35	-7.4775	7.2402	0.26092	0.0:0.7205:0.0:0.2795	.	597;618;686	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	D	140;686;618;239;597;317;618;305	ENSP00000437141:E140D;ENSP00000263650:E686D;ENSP00000374639:E618D;ENSP00000431412:E239D;ENSP00000433342:E597D;ENSP00000441551:E317D;ENSP00000302872:E618D	ENSP00000263650:E686D	E	-	3	2	OSBPL5	3070747	0.993000	0.37304	0.637000	0.29366	0.006000	0.05464	1.126000	0.31344	0.923000	0.37045	-0.291000	0.09656	GAG	OSBPL5	-	pfam_Oxysterol-bd		0.657	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3114171	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	0.742	G	G	3114171	C	G	3114171	3	3	117	1	0	0	0	0	1	0	0	0	11304	912	32	1	601	1	OSBPL5	11	3114171	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1842913	3114171	131892345	704	18172										
OR51D1	390038	genome.wustl.edu	37	chr11	4661593	4661593	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catactgtcacacactccttCtgtctgcaccaagatattat	4	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:4661593C>A	ENST00000357605.2	+	1	649	c.573C>A	c.(571-573)ttC>ttA	p.F191L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACACTCCTTCTGTCTGCACC	0.488																																																	0													289	243	259					11																	4661593		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.573C>A	11.37:g.4661593C>A	ENSP00000350222:p.Phe191Leu		B9EIK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F191L	ENST00000357605.2	37	c.573	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084836	0.36758	.	.	ENSG00000197428	ENST00000357605	T	0.00346	8.01	4.29	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00412	0.0013	L	0.46885	1.475	0.33968	D	0.646478	D	0.56746	0.977	P	0.57548	0.823	T	0.70777	-0.4780	10	0.87932	D	0	.	9.205	0.37285	0.0:0.8193:0.0:0.1807	.	191	Q8NGF3	O51D1_HUMAN	L	191	ENSP00000350222:F191L	ENSP00000350222:F191L	F	+	3	2	OR51D1	4618169	0.682000	0.27624	0.959000	0.39883	0.002000	0.02628	0.365000	0.20348	0.547000	0.28938	-0.251000	0.11542	TTC	OR51D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	C	NM_001004751		4661593	1	no_errors	ENST00000357605	ensembl	human	known	70_37	missense	SNP	0.997	A	A	4661593	C	A	4661593	3	1	117	1	0	0	0	0	1	0	0	0	11117	912	32	3	575	3	OR51D1	11	4661593	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1547422	4661593	130344923	705	18173										
OR52A5	390054	genome.wustl.edu	37	chr11	5153017	5153017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agggttgagaaaaggtgggaCtaacaggtaaagatttgaca	14	3	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:5153017C>T	ENST00000307388.1	-	1	855	c.856G>A	c.(856-858)Gtc>Atc	p.V286I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	286					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGTGGGACTAACAGGTAA	0.378																																																	0													143	138	140					11																	5153017		2201	4298	6499	SO:0001583	missense	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.856G>A	11.37:g.5153017C>T	ENSP00000303469:p.Val286Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V286I	ENST00000307388.1	37	c.856	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302532	0.40795	.	.	ENSG00000171944	ENST00000307388	T	0.00256	8.42	4.85	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000555	T	0.00271	0.0008	L	0.52573	1.65	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.50693	-0.8798	10	0.33141	T	0.24	.	4.7907	0.13247	0.1776:0.6485:0.0:0.1739	.	286	Q9H2C5	O52A5_HUMAN	I	286	ENSP00000303469:V286I	ENSP00000303469:V286I	V	-	1	0	OR52A5	5109593	0.000000	0.05858	0.993000	0.49108	0.854000	0.48673	-0.763000	0.04740	2.499000	0.84300	0.655000	0.94253	GTC	OR52A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.378	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	C	NM_001005160		5153017	-1	no_errors	ENST00000307388	ensembl	human	known	70_37	missense	SNP	0.077	T	T	5153017	C	T	5153017	3	4	117	1	0	0	0	0	1	0	0	0	11134	565	20	4	97	4	OR52A5	11	5153017	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	491424	5153017	129853499	706	18174										
OR51B5	282763	genome.wustl.edu	37	chr11	5364101	5364101	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcaggacagtcttgagtatCaacacataggagatgaagat	10	7	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:5364101C>G	ENST00000300773.2	-	1	708	c.654G>C	c.(652-654)ttG>ttC	p.L218F	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	218					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTGAGTATCAACACATAGG	0.463																																																	0													110	109	109					11																	5364101		2201	4297	6498	SO:0001583	missense	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.654G>C	11.37:g.5364101C>G	ENSP00000300773:p.Leu218Phe		B2RN59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L218F	ENST00000300773.2	37	c.654	CCDS31378.1	11	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377683	0.42105	.	.	ENSG00000242180	ENST00000300773	T	0.00107	8.72	4.92	0.456	0.16655	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33057	N	0.005322	T	0.00210	0.0006	L	0.61036	1.89	0.19575	N	0.999966	P	0.51057	0.941	P	0.55011	0.766	T	0.47661	-0.9100	10	0.39692	T	0.17	.	0.6319	0.00796	0.1706:0.3128:0.1668:0.3498	.	218	Q9H339	O51B5_HUMAN	F	218	ENSP00000300773:L218F	ENSP00000300773:L218F	L	-	3	2	OR51B5	5320677	0.000000	0.05858	0.787000	0.31911	0.965000	0.64279	-0.715000	0.04997	0.228000	0.21019	0.650000	0.86243	TTG	OR51B5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	C	NM_001005567		5364101	-1	no_errors	ENST00000300773	ensembl	human	known	70_37	missense	SNP	0.011	G	G	5364101	C	G	5364101	3	3	117	1	0	0	0	0	1	0	0	0	11115	825	29	1	288	1	OR51B5	11	5364101	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	211084	5364101	129642415	707	18175										
TRIM22	10346	genome.wustl.edu	37	chr11	5730382	5730382	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacctgcacatttaagaattCaaatccatgtgatttttctg	5	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:5730382C>G	ENST00000379965.3	+	8	1278	c.1001C>G	c.(1000-1002)tCa>tGa	p.S334*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTAAGAATTCAAATCCATGT	0.438																																					GBM(104;491 2336 5222)												0													174	157	162					11																	5730382		1879	4115	5994	SO:0001587	stop_gained	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1001C>G	11.37:g.5730382C>G	ENSP00000369299:p.Ser334*		Q05CQ0|Q15521	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S334*	ENST00000379965.3	37	c.1001	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400087	0.42613	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293	.	.	.	3.97	-7.93	0.01156	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	0.9156	0.01304	0.3925:0.1113:0.2817:0.2145	.	.	.	.	X	334;145;302;256	.	ENSP00000369299:S334X	S	+	2	0	TRIM22	5686958	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-3.108000	0.00601	-1.528000	0.01756	0.460000	0.39030	TCA	TRIM22	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2	C	NM_006074		5730382	1	no_errors	ENST00000379965	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	5730382	C	G	5730382	4	3	117	1	0	0	0	0	0	1	0	0	16527	838	29	1	1027	1	TRIM22	11	5730382	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	366281	5730382	129276134	708	18176										
CNGA4	1262	genome.wustl.edu	37	chr11	6265412	6265412	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtcccggctacgaggcctaGaccagcagctggatgatcta	12	12	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6265412G>C	ENST00000379936.2	+	6	1616	c.1501G>C	c.(1501-1503)Gac>Cac	p.D501H		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	501					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGAGGCCTAGACCAGCAGCT	0.562																																																	0													85	82	83					11																	6265412		2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1501G>C	11.37:g.6265412G>C	ENSP00000369268:p.Asp501His			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D501H	ENST00000379936.2	37	c.1501	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820778	0.71028	.	.	ENSG00000132259	ENST00000379936	D	0.97731	-4.51	5.28	5.28	0.74379	.	0.107027	0.64402	D	0.000008	D	0.96876	0.8980	L	0.29908	0.895	0.47584	D	0.999468	P	0.49783	0.928	P	0.53912	0.737	D	0.97291	0.9924	10	0.59425	D	0.04	.	17.7154	0.88335	0.0:0.0:1.0:0.0	.	501	Q8IV77	CNGA4_HUMAN	H	501	ENSP00000369268:D501H	ENSP00000369268:D501H	D	+	1	0	CNGA4	6221988	1.000000	0.71417	0.908000	0.35775	0.632000	0.37999	4.302000	0.59092	2.763000	0.94921	0.632000	0.83419	GAC	CNGA4	-	NULL		0.562	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	G	NM_001037329		6265412	1	no_errors	ENST00000379936	ensembl	human	known	70_37	missense	SNP	0.998	C	C	6265412	G	C	6265412	3	2	117	1	0	0	0	0	1	0	0	0	3604	942	33	1	1523	1	CNGA4	11	6265412	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	535030	6265412	128741104	709	18177										
PRKCDBP	112464	genome.wustl.edu	37	chr11	6341334	6341334	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcactgaccttgaagagcaGaacgtggagcttcccgcgcg	13	12	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6341334G>C	ENST00000303927.3	-	1	543	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.L125V	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	125					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGAAGAGCAGAACGTGGAGC	0.701																																																	0													11	11	11					11																	6341334		2177	4257	6434	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.373C>G	11.37:g.6341334G>C	ENSP00000307292:p.Leu125Val			Missense_Mutation	SNP	NULL	p.L125V	ENST00000303927.3	37	c.373	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517666	0.27123	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.61274	0.12;0.12	5.53	2.6	0.31112	.	0.382247	0.23612	N	0.046337	T	0.44307	0.1287	L	0.53249	1.67	0.37708	D	0.924474	B	0.10296	0.003	B	0.09377	0.004	T	0.28744	-1.0034	10	0.16896	T	0.51	-10.3629	5.0048	0.14282	0.1884:0.2044:0.6071:0.0	.	125	Q969G5	PRDBP_HUMAN	V	125	ENSP00000307292:L125V;ENSP00000432047:L125V	ENSP00000307292:L125V	L	-	1	2	PRKCDBP	6297910	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	0.304000	0.19228	0.669000	0.31146	0.609000	0.83330	CTG	PRKCDBP	-	NULL		0.701	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	G	NM_145040		6341334	-1	no_errors	ENST00000303927	ensembl	human	known	70_37	missense	SNP	0.999	C	C	6341334	G	C	6341334	3	2	117	1	0	0	0	0	1	0	0	0	12537	933	33	1	420	1	PRKCDBP	11	6341334	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	75922	6341334	128665182	710	18178										
ARFIP2	23647	genome.wustl.edu	37	chr11	6500102	6500102	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcatacttgcgcttcgtctCacgcagcaactcaatctgca	6	15	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6500102C>G	ENST00000254584.2	-	5	486	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	ARFIP2_ENST00000525235.1_Missense_Mutation_p.E135Q|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.E135Q|ARFIP2_ENST00000423813.2_Missense_Mutation_p.E97Q|ARFIP2_ENST00000445086.2_Missense_Mutation_p.E50Q|TIMM10B_ENST00000254616.6_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	135	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCTTCGTCTCACGCAGCAAC	0.557																																					Melanoma(119;796 1674 9049 20480 24794)												0													91	65	74					11																	6500102		2201	4296	6497	SO:0001583	missense	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.403G>C	11.37:g.6500102C>G	ENSP00000254584:p.Glu135Gln		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.E135Q	ENST00000254584.2	37	c.403	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952820	0.73787	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.85	4.93	0.64822	Arfaptin-like (3);	0.141849	0.64402	D	0.000006	T	0.77301	0.4110	L	0.43923	1.385	0.80722	D	1	P;P;P	0.51933	0.784;0.933;0.949	B;P;B	0.48873	0.331;0.593;0.344	T	0.77978	-0.2384	10	0.45353	T	0.12	.	16.023	0.80512	0.1358:0.8642:0.0:0.0	.	168;50;135	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	Q	135;135;50;97;135	ENSP00000254584:E135Q;ENSP00000379998:E135Q;ENSP00000391427:E50Q;ENSP00000398375:E97Q;ENSP00000434124:E135Q	ENSP00000254584:E135Q	E	-	1	0	ARFIP2	6456678	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.796000	0.85898	1.473000	0.48159	0.491000	0.48974	GAG	ARFIP2	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.557	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	C	NM_012402		6500102	-1	no_errors	ENST00000254584	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6500102	C	G	6500102	3	3	117	1	0	0	0	0	1	0	0	0	855	835	29	1	638	1	ARFIP2	11	6500102	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	158768	6500102	128506414	711	18179										
DCHS1	8642	genome.wustl.edu	37	chr11	6661191	6661191	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagagggggcaggccaccatCtgtggccaccacaatcagct	12	13	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6661191C>A	ENST00000299441.3	-	2	2065	c.1654G>T	c.(1654-1656)Gat>Tat	p.D552Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D552N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCACCATCTGTGGCCACC	0.547																																																	1	Substitution - Missense(1)	urinary_tract(1)											86	87	86					11																	6661191		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1654G>T	11.37:g.6661191C>A	ENSP00000299441:p.Asp552Tyr		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D552Y	ENST00000299441.3	37	c.1654	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477639	0.63849	.	.	ENSG00000166341	ENST00000299441	T	0.80909	-1.43	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.355526	0.20375	N	0.093580	D	0.94598	0.8259	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96789	0.9581	10	0.87932	D	0	.	18.0581	0.89369	0.0:1.0:0.0:0.0	.	552	Q96JQ0	PCD16_HUMAN	Y	552	ENSP00000299441:D552Y	ENSP00000299441:D552Y	D	-	1	0	DCHS1	6617767	1.000000	0.71417	0.973000	0.42090	0.783000	0.44284	7.759000	0.85235	2.588000	0.87417	0.579000	0.79373	GAT	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6661191	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6661191	C	A	6661191	3	1	117	1	0	0	0	0	1	0	0	0	4292	913	32	3	8322	3	DCHS1	11	6661191	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	161089	6661191	128345325	712	18180										
SYT9	143425	genome.wustl.edu	37	chr11	7439255	7439255	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaggaaaacatccaccaaGaggaacaccttgaatcctgt	8	10	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:7439255G>C	ENST00000318881.6	+	5	1470	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	411	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATCCACCAAGAGGAACACCT	0.468																																																	0													188	154	165					11																	7439255		2201	4296	6497	SO:0001583	missense	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1233G>C	11.37:g.7439255G>C	ENSP00000324419:p.Lys411Asn			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.K411N	ENST00000318881.6	37	c.1233	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551944	0.65311	.	.	ENSG00000170743	ENST00000318881	T	0.73469	-0.75	5.85	3.9	0.45041	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000008	D	0.86875	0.6038	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88177	0.2868	10	0.87932	D	0	.	9.8907	0.41288	0.1783:0.0:0.8217:0.0	.	411	Q86SS6	SYT9_HUMAN	N	411	ENSP00000324419:K411N	ENSP00000324419:K411N	K	+	3	2	SYT9	7395831	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.134000	0.42102	1.382000	0.46385	0.655000	0.94253	AAG	SYT9	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	G	NM_175733		7439255	1	no_errors	ENST00000318881	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7439255	G	C	7439255	3	2	117	1	0	0	0	0	1	0	0	0	15511	933	33	1	1251	1	SYT9	11	7439255	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	778064	7439255	127567261	713	18181										
PPFIBP2	8495	genome.wustl.edu	37	chr11	7672960	7672960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccacaaaagacgctcctcaGgcgccacctgaccaccaagt	7	18	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:7672960G>A	ENST00000299492.4	+	23	2709	c.2321G>A	c.(2320-2322)aGg>aAg	p.R774K	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R631K|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R616K|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R662K	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	774	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACGCTCCTCAGGCGCCACCTG	0.562																																																	0													131	116	121					11																	7672960		2201	4296	6497	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2321G>A	11.37:g.7672960G>A	ENSP00000299492:p.Arg774Lys		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R774K	ENST00000299492.4	37	c.2321	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.530098	0.96446	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.96688	0.8919	M	0.93375	3.41	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0	D;D;D;D;D;D	0.91635	0.999;0.994;0.998;0.996;0.995;0.999	D	0.97160	0.9837	10	0.87932	D	0	-21.7907	17.8364	0.88699	0.0:0.0:1.0:0.0	.	662;662;697;616;631;774	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	K	774;115;616;697;662;631	ENSP00000299492:R774K;ENSP00000436498:R616K;ENSP00000435469:R662K;ENSP00000437321:R631K	ENSP00000299492:R774K	R	+	2	0	PPFIBP2	7629536	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	9.813000	0.99286	2.884000	0.98904	0.655000	0.94253	AGG	PPFIBP2	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	G	NM_003621		7672960	1	no_errors	ENST00000299492	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7672960	G	A	7672960	3	1	117	1	0	0	0	0	1	0	0	0	12338	1000	35	4	2407	4	PPFIBP2	11	7672960	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	233705	7672960	127333556	714	18182										
SBF2	81846	genome.wustl.edu	37	chr11	10024173	10024173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taagtctctggaaacttgcaGaatggaagagaaccttattt	9	6	1	2	rs527564842		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:10024173G>A	ENST00000256190.8	-	7	820	c.683C>T	c.(682-684)tCt>tTt	p.S228F	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	228	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAAACTTGCAGAATGGAAGAG	0.348																																																	0													96	97	97					11																	10024173		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.683C>T	11.37:g.10024173G>A	ENSP00000256190:p.Ser228Phe		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S228F	ENST00000256190.8	37	c.683	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204575	0.79127	.	.	ENSG00000133812	ENST00000256190	T	0.30182	1.54	5.52	3.65	0.41850	DENN (3);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72564	-0.4255	9	.	.	.	.	10.5254	0.44945	0.0692:0.0:0.7969:0.1339	.	228	Q86WG5	MTMRD_HUMAN	F	228	ENSP00000256190:S228F	.	S	-	2	0	SBF2	9980749	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	0.688000	0.31529	0.591000	0.81541	TCT	SBF2	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.348	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		10024173	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10024173	G	A	10024173	3	1	117	1	0	0	0	0	1	0	0	0	13889	942	33	1	5002	1	SBF2	11	10024173	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2351213	10024173	124982343	715	18183										
AMPD3	272	genome.wustl.edu	37	chr11	10483213	10483213	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcccagaggactgccccatCgggcaaaaggaagccaagga	13	12	0	1	rs141926261		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:10483213C>T	ENST00000396554.3	+	2	515	c.174C>T	c.(172-174)atC>atT	p.I58I	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	49					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACTGCCCCATCGGGCAAAAGG	0.557																																																	0								C	,,,,	1,4401	2.1+/-5.4	0,1,2200	53	53	53		174,147,168,147,	-6.5	0.6	11	dbSNP_134	53	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-5	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,	58/777,49/768,56/775,49/768,	10483213	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.174C>T	11.37:g.10483213C>T			A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.I49	ENST00000396554.3	37	c.147	CCDS7802.1	11																																																																																			AMPD3	-	pirsf_AMP_deaminase		0.557	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	C	NM_000480		10483213	1	no_errors	ENST00000396553	ensembl	human	known	70_37	silent	SNP	0.843	T	T	10483213	C	T	10483213	2	4	117	1	0	0	0	0	0	0	0	1	587	874	31	1		1	AMPD3	11	10483213	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	459040	10483213	124523303	716	18184										
PIK3C2A	5286	genome.wustl.edu	37	chr11	17190537	17190537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgtagattgctgacttttGaatctgttatctccaaatca	6	9	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17190537G>A	ENST00000265970.7	-	1	751	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	251		Not phosphorylated.			clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GCTGACTTTTGAATCTGTTAT	0.363																																																	0													69	62	65					11																	17190537		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.752C>T	11.37:g.17190537G>A	ENSP00000265970:p.Ser251Leu		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S251L	ENST00000265970.7	37	c.752	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425219	0.43020	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64618	-0.11	5.49	5.49	0.81192	.	0.733014	0.13273	N	0.400344	T	0.51075	0.1653	L	0.29908	0.895	0.80722	D	1	P;B	0.42296	0.775;0.104	B;B	0.37304	0.246;0.023	T	0.55897	-0.8068	10	0.66056	D	0.02	-3.1363	13.1127	0.59283	0.0833:0.0:0.9167:0.0	.	251;251	F5H5W9;O00443	.;P3C2A_HUMAN	L	251	ENSP00000265970:S251L	ENSP00000265970:S251L	S	-	2	0	PIK3C2A	17147113	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.931000	0.63469	2.570000	0.86706	0.563000	0.77884	TCA	PIK3C2A	-	NULL		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17190537	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	0.968	A	A	17190537	G	A	17190537	3	1	117	1	0	0	0	0	1	0	0	0	11933	1294	45	1	4436	1	PIK3C2A	11	17190537	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6707324	17190537	117815979	717	18185										
PIK3C2A	5286	genome.wustl.edu	37	chr11	17190670	17190670	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggtaagcttccttgtggatGaaagggtgtggcaggtgtca	16	5	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17190670G>T	ENST00000265970.7	-	1	618	c.619C>A	c.(619-621)Cat>Aat	p.H207N	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	207					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CCTTGTGGATGAAAGGGTGTG	0.383																																																	0													64	64	64					11																	17190670		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.619C>A	11.37:g.17190670G>T	ENSP00000265970:p.His207Asn		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.H207N	ENST00000265970.7	37	c.619	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593127	0.46214	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.62639	0.01	5.53	4.62	0.57501	.	0.349501	0.33712	N	0.004628	T	0.44787	0.1310	L	0.27053	0.805	0.80722	D	1	P;B	0.39216	0.664;0.09	B;B	0.32289	0.143;0.028	T	0.34650	-0.9820	10	0.20046	T	0.44	-11.9324	14.3048	0.66377	0.0716:0.0:0.9284:0.0	.	207;207	F5H5W9;O00443	.;P3C2A_HUMAN	N	207	ENSP00000265970:H207N	ENSP00000265970:H207N	H	-	1	0	PIK3C2A	17147246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.780000	0.68956	1.335000	0.45486	0.591000	0.81541	CAT	PIK3C2A	-	NULL		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17190670	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17190670	G	T	17190670	3	4	117	1	0	0	0	0	1	0	0	0	11933	1290	45	3	4569	3	PIK3C2A	11	17190670	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	133	17190670	117815846	718	18186										
ABCC8	6833	genome.wustl.edu	37	chr11	17432122	17432122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taagaccactgtcctcttgtCgtcccggagcagctcaagga	10	13	2	1	rs531684936		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17432122C>T	ENST00000389817.3	-	22	2703	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	ABCC8_ENST00000302539.4_Missense_Mutation_p.D880N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	879	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTCCTCTTGTCGTCCCGGAGC	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		17498	0		0	False		,,,				2504	0																0													149	130	137					11																	17432122		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2635G>A	11.37:g.17432122C>T	ENSP00000374467:p.Asp879Asn		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D880N	ENST00000389817.3	37	c.2638	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	37	5.978651	0.97168	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89050	-2.46;-2.46	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050131	0.85682	D	0.000000	T	0.81889	0.4918	N	0.16862	0.45	0.80722	D	1	P	0.41910	0.764	B	0.36534	0.227	T	0.82484	-0.0434	10	0.42905	T	0.14	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	879	Q09428	ABCC8_HUMAN	N	879;880;883	ENSP00000374467:D879N;ENSP00000303960:D880N	ENSP00000303960:D880N	D	-	1	0	ABCC8	17388698	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	2.941000	0.99782	0.655000	0.94253	GAC	ABCC8	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	C	NM_000352		17432122	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17432122	C	T	17432122	3	4	117	1	0	0	0	0	1	0	0	0	58	884	31	1	2182	1	ABCC8	11	17432122	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	241452	17432122	117574394	719	18187										
MYOD1	4654	genome.wustl.edu	37	chr11	17741623	17741623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgctgcctactgtgggcctgCaaggcgtgcaagcgcaagac	14	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17741623C>T	ENST00000250003.3	+	1	509	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	98					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TGTGGGCCTGCAAGGCGTGCA	0.721																																																	0													11	9	9					11																	17741623		2136	4175	6311	SO:0001819	synonymous_variant	4654			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.294C>T	11.37:g.17741623C>T			O75321	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.C98	ENST00000250003.3	37	c.294	CCDS7826.1	11																																																																																			MYOD1	-	pfam_Basic,smart_Basic		0.721	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOD1	HGNC	protein_coding	OTTHUMT00000389387.1	C	NM_002478		17741623	1	no_errors	ENST00000250003	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17741623	C	T	17741623	2	4	117	1	0	0	0	0	0	0	0	1	10111	718	25	4		4	MYOD1	11	17741623	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	309501	17741623	117264893	720	18188										
SAAL1	113174	genome.wustl.edu	37	chr11	18105253	18105253	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atattttgtaagacccgaatGaggctgtcaattagaggaag	11	5	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:18105253G>T	ENST00000524803.1	-	10	1117	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	SAAL1_ENST00000300013.4_Silent_p.L355L|SAAL1_ENST00000529318.1_Silent_p.L358L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	356										breast(2)|large_intestine(5)|lung(8)	15						AGACCCGAATGAGGCTGTCAA	0.373																																																	0													98	94	95					11																	18105253		2200	4293	6493	SO:0001819	synonymous_variant	113174			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1068C>A	11.37:g.18105253G>T			A6NH05	Silent	SNP	superfamily_ARM-type_fold	p.L356	ENST00000524803.1	37	c.1068	CCDS31439.1	11																																																																																			SAAL1	-	NULL		0.373	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAAL1	HGNC	protein_coding	OTTHUMT00000389728.1	G	NM_138421		18105253	-1	no_errors	ENST00000524803	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18105253	G	T	18105253	2	4	117	1	0	0	0	0	0	0	0	1	13831	1277	45	3		3	SAAL1	11	18105253	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	363630	18105253	116901263	721	18189										
NAV2	89797	genome.wustl.edu	37	chr11	19970352	19970352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gactgggccagtccagccctCggctccaagcaggagacgcc	13	16	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:19970352C>T	ENST00000396087.3	+	11	2539	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	NAV2_ENST00000396085.1_Missense_Mutation_p.R791W|NAV2_ENST00000540292.1_Missense_Mutation_p.R745W|NAV2_ENST00000527559.2_Missense_Mutation_p.R743W|NAV2_ENST00000349880.4_Missense_Mutation_p.R791W|NAV2_ENST00000360655.4_Missense_Mutation_p.R727W	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	814					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R814W(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCCAGCCCTCGGCTCCAAGC	0.592																																																	1	Substitution - Missense(1)	urinary_tract(1)											63	55	57					11																	19970352		2199	4293	6492	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2440C>T	11.37:g.19970352C>T	ENSP00000379396:p.Arg814Trp		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R814W	ENST00000396087.3	37	c.2440	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.134079	0.94517	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000030	T	0.43389	0.1245	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.21314	-1.0249	9	.	.	.	.	18.8846	0.92370	0.0:1.0:0.0:0.0	.	791;727	Q8IVL1-3;Q8IVL1-4	.;.	W	727;791;791;814;743;745	ENSP00000353871:R727W;ENSP00000379394:R791W;ENSP00000309577:R791W;ENSP00000379396:R814W;ENSP00000435395:R743W;ENSP00000443489:R745W	.	R	+	1	2	NAV2	19926928	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.740000	0.84986	2.530000	0.85305	0.563000	0.77884	CGG	NAV2	-	NULL		0.592	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		19970352	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19970352	C	T	19970352	3	4	117	1	0	0	0	0	1	0	0	0	10207	875	31	1	2488	1	NAV2	11	19970352	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1865099	19970352	115036164	722	18190										
ELP4	26610	genome.wustl.edu	37	chr11	31669288	31669288	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttgtttccatgttttgcaGaataaagccattattgcccg	7	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:31669288G>A	ENST00000350638.5	+	8	962		c.e8-1		ELP4_ENST00000395934.2_Splice_Site|ELP4_ENST00000379163.5_Splice_Site|Z83001.1_ENST00000429821.1_RNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.?(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATGTTTTGCAGAATAAAGCCA	0.338																																																	2	Unknown(2)	kidney(2)											187	163	171					11																	31669288		1824	4077	5901	SO:0001630	splice_region_variant	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.928-1G>A	11.37:g.31669288G>A			B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Splice_Site	SNP	-	e8-1	ENST00000350638.5	37	c.928-1	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506546	0.85282	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELP4	31625864	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.942000	0.87708	2.801000	0.96364	0.650000	0.86243	.	ELP4	-	-		0.338	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	G	NM_019040	Intron	31669288	1	no_errors	ENST00000395934	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	31669288	G	A	31669288	5	1	117	1	0	0	0	0	0	0	1	0	5094	956	33	1	957	1	ELP4	11	31669288	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11698936	31669288	103337228	723	18191										
KIAA0652	9776	genome.wustl.edu	37	chr11	46691034	46691034	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttcagaacccacctcagctGagcagcctctccatagatat	6	14	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:46691034G>A	ENST00000434074.1	+	16	2117	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L	ATG13_ENST00000524625.1_Silent_p.L439L|ATG13_ENST00000528494.1_Silent_p.L509L|ATG13_ENST00000359513.4_Silent_p.L476L|ATG13_ENST00000312040.4_Silent_p.L476L|ATG13_ENST00000529655.1_Silent_p.L439L|ATG13_ENST00000451945.1_Silent_p.L439L|ATG13_ENST00000530500.1_Silent_p.L360L|ATG13_ENST00000526508.1_Silent_p.L476L	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	476					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CACCTCAGCTGAGCAGCCTCT	0.463																																																	0													115	108	110					11																	46691034		2201	4299	6500	SO:0001819	synonymous_variant	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1428G>A	11.37:g.46691034G>A			B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	pfam_Autophagy-rel_p13	p.L476	ENST00000434074.1	37	c.1428	CCDS44582.1	11																																																																																			ATG13	-	NULL		0.463	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	G	NM_014741		46691034	1	no_errors	ENST00000312040	ensembl	human	known	70_37	silent	SNP	0.983	A	A	46691034	G	A	46691034	2	1	117	1	0	0	0	0	0	0	0	1	8208	1277	45	1		1	KIAA0652	11	46691034	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	15021746	46691034	88315482	724	18192										
OR5L2	26338	genome.wustl.edu	37	chr11	55594997	55594997	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctagggtgcatggtgcaattCtacttgttttgcacatgtgg	12	7	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:55594997C>T	ENST00000378397.1	+	1	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGGTGCAATTCTACTTGTTTT	0.468										HNSCC(27;0.073)																																							0													187	177	181					11																	55594997		2200	4296	6496	SO:0001819	synonymous_variant	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.303C>T	11.37:g.55594997C>T			Q6IF66|Q96RB2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F101	ENST00000378397.1	37	c.303	CCDS31511.1	11																																																																																			OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55594997	1	no_errors	ENST00000378397	ensembl	human	known	70_37	silent	SNP	0.989	T	T	55594997	C	T	55594997	2	4	117	1	0	0	0	0	0	0	0	1	11195	912	32	1		1	OR5L2	11	55594997	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8903963	55594997	79411519	725	18193										
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57080263	57080263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctcaggggcatcagcaaaGagaacacagggctggtcagg	16	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:57080263G>A	ENST00000532437.1	-	4	2210	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.L633L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	633	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.L633L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CATCAGCAAAGAGAACACAGG	0.662																																																	1	Substitution - coding silent(1)	urinary_tract(1)											35	39	38					11																	57080263		2201	4296	6497	SO:0001819	synonymous_variant	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1899C>T	11.37:g.57080263G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.L633	ENST00000532437.1	37	c.1899	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL		0.662	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	G	NM_033396		57080263	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	silent	SNP	0.849	A	A	57080263	G	A	57080263	2	1	117	1	0	0	0	0	0	0	0	1	16350	929	33	1		1	TNKS1BP1	11	57080263	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1485266	57080263	77926253	726	18194										
OR5B3	441608	genome.wustl.edu	37	chr11	58170013	58170013	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcttcacttccttgttcctCagactatagaccagagggtt	7	12	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:58170013C>G	ENST00000309403.2	-	1	869	c.870G>C	c.(868-870)ctG>ctC	p.L290L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCTTGTTCCTCAGACTATAGA	0.448																																																	0													147	124	132					11																	58170013		2201	4295	6496	SO:0001819	synonymous_variant	441608			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.870G>C	11.37:g.58170013C>G			Q6IEV6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L290	ENST00000309403.2	37	c.870	CCDS31549.1	11																																																																																			OR5B3	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.448	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	HGNC	protein_coding	OTTHUMT00000394886.1	C	NM_001005469		58170013	-1	no_errors	ENST00000309403	ensembl	human	known	70_37	silent	SNP	0.985	G	G	58170013	C	G	58170013	2	3	117	1	0	0	0	0	0	0	0	1	11176	813	29	1		1	OR5B3	11	58170013	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1089750	58170013	76836503	727	18195										
FAM111B	374393	genome.wustl.edu	37	chr11	58892532	58892532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaagatgtagaacacagcaGagagcaaattctcccacctc	7	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:58892532G>A	ENST00000343597.3	+	4	1153	c.962G>A	c.(961-963)aGa>aAa	p.R321K	FAM111B_ENST00000411426.1_Missense_Mutation_p.R291K|FAM111B_ENST00000529618.1_Missense_Mutation_p.R291K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	321							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GAACACAGCAGAGAGCAAATT	0.383																																																	0													76	88	84					11																	58892532		2191	4294	6485	SO:0001583	missense	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.962G>A	11.37:g.58892532G>A	ENSP00000341565:p.Arg321Lys		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Pept_cys/ser_Trypsin-like	p.R321K	ENST00000343597.3	37	c.962	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	6.900	0.535519	0.13188	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.35605	1.3;1.3;1.3	3.57	-0.548	0.11833	.	.	.	.	.	T	0.15219	0.0367	L	0.27053	0.805	0.09310	N	1	B	0.27997	0.197	B	0.21546	0.035	T	0.22836	-1.0205	9	0.06236	T	0.91	.	0.59	0.00726	0.3178:0.1707:0.3365:0.1751	.	321	Q6SJ93	F111B_HUMAN	K	291;291;321	ENSP00000393855:R291K;ENSP00000432875:R291K;ENSP00000341565:R321K	ENSP00000341565:R321K	R	+	2	0	FAM111B	58649108	0.000000	0.05858	0.009000	0.14445	0.016000	0.09150	-0.036000	0.12185	0.016000	0.14998	-0.126000	0.14955	AGA	FAM111B	-	NULL		0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	G	NM_198947		58892532	1	no_errors	ENST00000343597	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58892532	G	A	58892532	3	1	117	1	0	0	0	0	1	0	0	0	5415	942	33	1	968	1	FAM111B	11	58892532	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	722519	58892532	76113984	728	18196										
OR5AN1	390195	genome.wustl.edu	37	chr11	59132687	59132687	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctaacagctgtttccctcttCtatacatcaggaatctttgt	5	11	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:59132687C>A	ENST00000313940.2	+	1	803	c.756C>A	c.(754-756)ttC>ttA	p.F252L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTTCCCTCTTCTATACATCAG	0.428																																																	0													196	187	190					11																	59132687		2201	4295	6496	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.756C>A	11.37:g.59132687C>A	ENSP00000320302:p.Phe252Leu		B9EIS2|Q6IEV4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F252L	ENST00000313940.2	37	c.756	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805840	0.50421	.	.	ENSG00000176495	ENST00000313940	T	0.00285	8.3	4.51	-4.35	0.03656	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.00356	0.0011	L	0.60845	1.875	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.48811	-0.9002	10	0.48119	T	0.1	-48.0265	4.4313	0.11529	0.2445:0.2926:0.0:0.4628	.	252	Q8NGI8	O5AN1_HUMAN	L	252	ENSP00000320302:F252L	ENSP00000320302:F252L	F	+	3	2	OR5AN1	58889263	0.118000	0.22208	0.002000	0.10522	0.913000	0.54294	-0.696000	0.05104	-1.034000	0.03295	0.655000	0.94253	TTC	OR5AN1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	C	NM_001004729		59132687	1	no_errors	ENST00000313940	ensembl	human	known	70_37	missense	SNP	0.002	A	A	59132687	C	A	59132687	3	1	117	1	0	0	0	0	1	0	0	0	11167	912	32	3	758	3	OR5AN1	11	59132687	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	240155	59132687	75873829	729	18197										
MS4A14	84689	genome.wustl.edu	37	chr11	60182921	60182921	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttttataggttctgtttttCttgccttcggatgttactca	7	8	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:60182921C>G	ENST00000300187.6	+	5	757	c.480C>G	c.(478-480)ttC>ttG	p.F160L	MS4A14_ENST00000531783.1_Missense_Mutation_p.F193L|MS4A14_ENST00000395005.2_Missense_Mutation_p.F143L|MS4A14_ENST00000531787.1_Missense_Mutation_p.F48L|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	160						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTCTGTTTTTCTTGCCTTCGG	0.328																																																	0													86	85	85					11																	60182921		2202	4299	6501	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.480C>G	11.37:g.60182921C>G	ENSP00000300187:p.Phe160Leu		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.F160L	ENST00000300187.6	37	c.480	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267092	0.59540	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37411	1.2;2.64;1.25;2.99	3.73	3.73	0.42828	.	4.348810	0.00718	N	0.000860	T	0.63745	0.2537	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.50800	-0.8785	10	0.87932	D	0	-12.0904	11.3443	0.49552	0.0:1.0:0.0:0.0	.	143;160	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	L	48;160;143;193	ENSP00000437222:F48L;ENSP00000300187:F160L;ENSP00000378453:F143L;ENSP00000433761:F193L	ENSP00000300187:F160L	F	+	3	2	MS4A14	59939497	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.507000	0.35758	2.371000	0.80710	0.650000	0.86243	TTC	MS4A14	-	pfam_CD20-like		0.328	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	C			60182921	1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60182921	C	G	60182921	3	3	117	1	0	0	0	0	1	0	0	0	9881	912	32	1	498	1	MS4A14	11	60182921	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1050234	60182921	74823595	730	18198										
SLC15A3	51296	genome.wustl.edu	37	chr11	60714117	60714117	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgaagacgggggtggcaaaGaggaagatgaaaaatgccag	16	4	0	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:60714117G>C	ENST00000227880.3	-	2	968	c.735C>G	c.(733-735)ctC>ctG	p.L245L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	245					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L245L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGGTGGCAAAGAGGAAGATGA	0.572																																																	1	Substitution - coding silent(1)	lung(1)											81	80	80					11																	60714117		2203	4299	6502	SO:0001819	synonymous_variant	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.735C>G	11.37:g.60714117G>C			Q9P2X9	Silent	SNP	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L245	ENST00000227880.3	37	c.735	CCDS7998.1	11	.	.	.	.	.	.	.	.	.	.	G	9.059	0.993958	0.19043	.	.	ENSG00000110446	ENST00000442626	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.65565	0.2703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65236	-0.6217	5	0.46703	T	0.11	-40.8113	11.9829	0.53129	0.0:0.0:0.8264:0.1736	.	.	.	.	C	245	.	ENSP00000403318:S245C	S	-	2	0	SLC15A3	60470693	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.872000	0.28037	2.596000	0.87737	0.591000	0.81541	TCT	SLC15A3	-	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A3	HGNC	protein_coding	OTTHUMT00000396366.1	G	NM_016582		60714117	-1	no_errors	ENST00000227880	ensembl	human	known	70_37	silent	SNP	1.000	C	C	60714117	G	C	60714117	2	2	117	1	0	0	0	0	0	0	0	1	14430	929	33	1		1	SLC15A3	11	60714117	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	531196	60714117	74292399	731	18199										
AHNAK	79026	genome.wustl.edu	37	chr11	62296617	62296617	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caactttccttctggtccctCaatatccaaatcaggagcat	5	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62296617C>G	ENST00000378024.4	-	5	5546	c.5272G>C	c.(5272-5274)Gag>Cag	p.E1758Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1758					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGTCCCTCAATATCCAAA	0.458																																																	0													114	127	123					11																	62296617		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5272G>C	11.37:g.62296617C>G	ENSP00000367263:p.Glu1758Gln		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1758Q	ENST00000378024.4	37	c.5272	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017806	0.19355	.	.	ENSG00000124942	ENST00000378024	T	0.01279	5.06	4.1	4.1	0.47936	.	.	.	.	.	T	0.08179	0.0204	M	0.78285	2.405	0.30852	N	0.734491	D	0.67145	0.996	D	0.75484	0.986	T	0.07966	-1.0745	9	0.26408	T	0.33	.	16.2881	0.82732	0.0:1.0:0.0:0.0	.	1758	Q09666	AHNK_HUMAN	Q	1758	ENSP00000367263:E1758Q	ENSP00000367263:E1758Q	E	-	1	0	AHNAK	62053193	0.927000	0.31430	0.062000	0.19696	0.002000	0.02628	1.898000	0.39809	1.975000	0.57531	0.305000	0.20034	GAG	AHNAK	-	NULL		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62296617	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.981	G	G	62296617	C	G	62296617	3	3	117	1	0	0	0	0	1	0	0	0	414	835	29	1	12520	1	AHNAK	11	62296617	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1582500	62296617	72709899	732	18200										
AHNAK	79026	genome.wustl.edu	37	chr11	62300022	62300022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggcattttcaggttccattCtgggccatgcgcttcgacat	11	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62300022C>G	ENST00000378024.4	-	5	2141	c.1867G>C	c.(1867-1869)Gaa>Caa	p.E623Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	623					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCCATTCTGGGCCATGC	0.517																																																	0													103	92	96					11																	62300022		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1867G>C	11.37:g.62300022C>G	ENSP00000367263:p.Glu623Gln		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E623Q	ENST00000378024.4	37	c.1867	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444952	0.43429	.	.	ENSG00000124942	ENST00000378024	T	0.00986	5.47	5.68	3.77	0.43336	.	0.698495	0.12281	N	0.482894	T	0.03263	0.0095	M	0.82323	2.585	0.09310	N	1	D	0.52996	0.957	P	0.52793	0.709	T	0.39563	-0.9608	10	0.45353	T	0.12	-23.3527	6.5897	0.22639	0.1467:0.7054:0.0:0.148	.	623	Q09666	AHNK_HUMAN	Q	623	ENSP00000367263:E623Q	ENSP00000367263:E623Q	E	-	1	0	AHNAK	62056598	0.755000	0.28372	0.061000	0.19648	0.600000	0.36913	1.809000	0.38922	0.725000	0.32318	0.305000	0.20034	GAA	AHNAK	-	NULL		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62300022	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.110	G	G	62300022	C	G	62300022	3	3	117	1	0	0	0	0	1	0	0	0	414	922	32	1	15925	1	AHNAK	11	62300022	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3405	62300022	72706494	733	18201										
GANAB	23193	genome.wustl.edu	37	chr11	62400673	62400673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caccatacggcttgctgtcaGagtgagttttgaatgtctcc	10	10	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62400673G>A	ENST00000356638.3	-	7	717	c.701C>T	c.(700-702)tCt>tTt	p.S234F	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.S137F|GANAB_ENST00000534779.1_Missense_Mutation_p.S142F|GANAB_ENST00000346178.4_Missense_Mutation_p.S256F	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	234					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CTTGCTGTCAGAGTGAGTTTT	0.537																																					Melanoma(23;1005 1074 15747 18937)												0													122	123	123					11																	62400673		2202	4299	6501	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.701C>T	11.37:g.62400673G>A	ENSP00000349053:p.Ser234Phe		A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.S256F	ENST00000356638.3	37	c.767	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376659	0.24857	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88277	-2.36;-2.31;-1.95;-2.36	5.14	5.14	0.70334	Glycoside hydrolase-type carbohydrate-binding (1);	0.382506	0.27473	N	0.019203	D	0.86285	0.5896	L	0.39898	1.24	0.29827	N	0.830348	B;B;B;B	0.22276	0.042;0.042;0.02;0.067	B;B;B;B	0.35899	0.106;0.106;0.106;0.213	T	0.76255	-0.3026	10	0.15066	T	0.55	-9.32	16.153	0.81636	0.0:0.0:1.0:0.0	.	120;142;234;256	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	F	256;234;142;137	ENSP00000340466:S256F;ENSP00000349053:S234F;ENSP00000435306:S142F;ENSP00000442962:S137F	ENSP00000340466:S256F	S	-	2	0	GANAB	62157249	0.963000	0.33076	0.997000	0.53966	0.849000	0.48306	3.406000	0.52637	2.673000	0.90976	0.557000	0.71058	TCT	GANAB	-	superfamily_Glyco_hydro-type_carb-bd		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	G	NM_198334		62400673	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	missense	SNP	0.665	A	A	62400673	G	A	62400673	3	1	117	1	0	0	0	0	1	0	0	0	6252	942	33	1	2205	1	GANAB	11	62400673	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	100651	62400673	72605843	734	18202										
TAF6L	10629	genome.wustl.edu	37	chr11	62553839	62553839	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggtcaaagcagatggacaCaaagtctatggagccattct	10	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62553839C>G	ENST00000294168.3	+	10	1269	c.1068C>G	c.(1066-1068)caC>caG	p.H356Q	TMEM179B_ENST00000333449.4_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000533861.1_5'Flank|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	356					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CAGATGGACACAAAGTCTATG	0.502											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													162	149	153					11																	62553839		2201	4299	6500	SO:0001583	missense	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1068C>G	11.37:g.62553839C>G	ENSP00000294168:p.His356Gln	1062	B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.H356Q	ENST00000294168.3	37	c.1068	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208275	0.58343	.	.	ENSG00000162227	ENST00000294168	T	0.47528	0.84	5.77	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.52601	-0.8554	10	0.34782	T	0.22	-33.4128	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	356	Q9Y6J9	TAF6L_HUMAN	Q	356	ENSP00000294168:H356Q	ENSP00000294168:H356Q	H	+	3	2	TAF6L	62310415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.598000	0.54038	1.575000	0.49775	0.655000	0.94253	CAC	TAF6L	-	NULL		0.502	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	C	NM_006473		62553839	1	no_errors	ENST00000294168	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62553839	C	G	62553839	3	3	117	1	0	0	0	0	1	0	0	0	15561	477	17	4	1102	4	TAF6L	11	62553839	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	153166	62553839	72452677	735	18203										
NXF1	10482	genome.wustl.edu	37	chr11	62571010	62571010	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atctcgatcatgccaagtatCaccccgacggttaggtcggg	11	12	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571010C>T	ENST00000532297.1	-	4	879	c.250G>A	c.(250-252)Gat>Aat	p.D84N	NXF1_ENST00000294172.2_Missense_Mutation_p.D84N|NXF1_ENST00000439713.2_Missense_Mutation_p.D84N|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.D84N			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	84	Interaction with ALYREF/THOC4.|Major non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCAAGTATCACCCCGACGG	0.527																																																	0													128	119	122					11																	62571010		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.250G>A	11.37:g.62571010C>T	ENSP00000436679:p.Asp84Asn		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D84N	ENST00000532297.1	37	c.250	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037424	0.35989	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713;ENST00000533671;ENST00000531474	T;T;T;T	0.46063	0.95;0.95;0.92;0.88	4.66	3.75	0.43078	.	0.281143	0.34802	N	0.003676	T	0.40171	0.1106	L	0.38175	1.15	0.30836	N	0.736199	B;D;B	0.55172	0.057;0.97;0.067	B;P;B	0.54346	0.029;0.749;0.014	T	0.31420	-0.9944	10	0.18276	T	0.48	-15.522	8.3474	0.32281	0.0:0.8944:0.0:0.1056	.	127;97;84	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	N	84;84;127;84;24;24	ENSP00000294172:D84N;ENSP00000436679:D84N;ENSP00000435742:D127N;ENSP00000408864:D84N	ENSP00000294172:D84N	D	-	1	0	NXF1	62327586	0.719000	0.27986	0.089000	0.20774	0.926000	0.56050	2.886000	0.48578	1.187000	0.43000	0.655000	0.94253	GAT	NXF1	-	NULL		0.527	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571010	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	0.406	T	T	62571010	C	T	62571010	3	4	117	1	0	0	0	0	1	0	0	0	10806	826	29	1	1740	1	NXF1	11	62571010	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	17171	62571010	72435506	736	18204			6	82	61299752	4	4	436	C		1.231296e-06
NXF1	10482	genome.wustl.edu	37	chr11	62571336	62571336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttcctcaaggcgggaagacCgaataccagaaccgcctctt	9	14	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571336C>T	ENST00000532297.1	-	3	772	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	NXF1_ENST00000294172.2_Missense_Mutation_p.R48Q|NXF1_ENST00000439713.2_Missense_Mutation_p.R48Q|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.R48Q			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	48	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGGAAGACCGAATACCAGA	0.517																																																	0													135	130	132					11																	62571336		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.143G>A	11.37:g.62571336C>T	ENSP00000436679:p.Arg48Gln		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.R48Q	ENST00000532297.1	37	c.143	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958507	0.34565	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.46451	0.93;0.93;0.89;0.87	4.82	2.93	0.34026	.	0.417675	0.25991	N	0.027002	T	0.28101	0.0693	L	0.41710	1.295	0.09310	N	1	B;B;B	0.18863	0.01;0.031;0.009	B;B;B	0.12156	0.002;0.005;0.007	T	0.15009	-1.0452	10	0.23891	T	0.37	-10.6249	5.3418	0.15988	0.0:0.6553:0.1651:0.1796	.	91;61;48	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	Q	48;48;91;48	ENSP00000294172:R48Q;ENSP00000436679:R48Q;ENSP00000435742:R91Q;ENSP00000408864:R48Q	ENSP00000294172:R48Q	R	-	2	0	NXF1	62327912	0.992000	0.36948	0.689000	0.30133	0.996000	0.88848	3.576000	0.53878	0.621000	0.30232	0.655000	0.94253	CGG	NXF1	-	NULL		0.517	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571336	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	0.070	T	T	62571336	C	T	62571336	3	4	117	1	0	0	0	0	1	0	0	0	10806	652	23	2	1851	2	NXF1	11	62571336	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	326	62571336	72435180	737	18205			6	82	61299752	4	4	436	C		1.231296e-06
NXF1	10482	genome.wustl.edu	37	chr11	62571352	62571352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaccgaataccagaaccgcCtcttccagacctacggtttc	7	15	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571352C>T	ENST00000532297.1	-	3	756	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	NXF1_ENST00000294172.2_Missense_Mutation_p.G43S|NXF1_ENST00000439713.2_Missense_Mutation_p.G43S|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.G43S			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	43	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGAACCGCCTCTTCCAGAC	0.517																																																	0													137	136	136					11																	62571352		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.127G>A	11.37:g.62571352C>T	ENSP00000436679:p.Gly43Ser		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.G43S	ENST00000532297.1	37	c.127	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493721	0.84962	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.50548	0.9;0.9;0.82;0.74	4.82	4.82	0.62117	.	0.109676	0.64402	D	0.000010	T	0.56978	0.2022	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.968;1.0;0.999	P;D;D	0.87578	0.476;0.998;0.909	T	0.48614	-0.9020	10	0.21014	T	0.42	-22.3564	15.4751	0.75471	0.0:1.0:0.0:0.0	.	86;56;43	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	S	43;43;86;43	ENSP00000294172:G43S;ENSP00000436679:G43S;ENSP00000435742:G86S;ENSP00000408864:G43S	ENSP00000294172:G43S	G	-	1	0	NXF1	62327928	0.984000	0.35163	0.998000	0.56505	0.969000	0.65631	3.362000	0.52314	2.503000	0.84419	0.655000	0.94253	GGC	NXF1	-	NULL		0.517	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571352	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62571352	C	T	62571352	3	4	117	1	0	0	0	0	1	0	0	0	10806	681	24	4	1867	4	NXF1	11	62571352	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	16	62571352	72435164	738	18206			6	82	61299752	4	4	436	C		1.231296e-06
NXF1	10482	genome.wustl.edu	37	chr11	62571445	62571445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaattaacgcgttcatcatCgtgttctagagttagaaaca	8	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571445C>G	ENST00000532297.1	-	3	663	c.34G>C	c.(34-36)Gat>Cat	p.D12H	NXF1_ENST00000294172.2_Missense_Mutation_p.D12H|NXF1_ENST00000439713.2_Missense_Mutation_p.D12H|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.D12H			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	12	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTTCATCATCGTGTTCTAGA	0.453																																																	0													97	102	100					11																	62571445		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.34G>C	11.37:g.62571445C>G	ENSP00000436679:p.Asp12His		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D12H	ENST00000532297.1	37	c.34	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857584	0.71834	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.58358	0.78;0.78;0.34;0.56	4.82	3.91	0.45181	.	1.086910	0.07062	N	0.833881	T	0.70439	0.3224	L	0.57536	1.79	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.985;0.999	T	0.58707	-0.7589	10	0.56958	D	0.05	-22.192	12.2327	0.54497	0.1713:0.8287:0.0:0.0	.	55;25;12	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	H	12;12;55;12	ENSP00000294172:D12H;ENSP00000436679:D12H;ENSP00000435742:D55H;ENSP00000408864:D12H	ENSP00000294172:D12H	D	-	1	0	NXF1	62328021	0.999000	0.42202	0.990000	0.47175	0.917000	0.54804	3.179000	0.50887	1.242000	0.43836	0.655000	0.94253	GAT	NXF1	-	NULL		0.453	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571445	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62571445	C	G	62571445	3	3	117	1	0	0	0	0	1	0	0	0	10806	884	31	1	1960	1	NXF1	11	62571445	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	93	62571445	72435071	739	18207			6	82	61299752	4	4	436	C		1.231296e-06
SLC22A10	387775	genome.wustl.edu	37	chr11	63072163	63072163	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttatttatctgtagggcaaGagcttcaggaatagatttaa	10	4	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:63072163G>C	ENST00000332793.6	+	9	1402	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.E266Q	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	467						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TGTAGGGCAAGAGCTTCAGGA	0.358																																																	0													126	118	121					11																	63072163		1843	4084	5927	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1400G>C	11.37:g.63072163G>C	ENSP00000327569:p.Arg467Thr		Q68CJ0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R467T	ENST00000332793.6	37	c.1400	CCDS41661.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.770|5.770	0.326469|0.326469	0.10900|0.10900	.|.	.|.	ENSG00000184999|ENSG00000184999	ENST00000544661|ENST00000332793	T|T	0.69306|0.55413	-0.39|0.52	2.0|2.0	-4.0|-4.0	0.04057|0.04057	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.632124	.|0.14108	.|U	.|0.340905	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.00960|0.00960	-1.095|-1.095	0.09310|0.09310	N|N	1|1	B|B	0.09022|0.12013	0.002|0.005	B|B	0.04013|0.16289	0.001|0.015	T|T	0.23048|0.23048	-1.0199|-1.0199	9|10	0.59425|0.02654	D|T	0.04|1	.|.	4.3231|4.3231	0.11027|0.11027	0.1222:0.5622:0.1756:0.14|0.1222:0.5622:0.1756:0.14	.|.	261|467	E9PJB1|Q63ZE4	.|S22AA_HUMAN	Q|T	266|467	ENSP00000445667:E266Q|ENSP00000327569:R467T	ENSP00000433817:E261Q|ENSP00000327569:R467T	E|R	+|+	1|2	0|0	SLC22A10|SLC22A10	62828739|62828739	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-2.102000|-2.102000	0.01343|0.01343	-1.311000|-1.311000	0.02309|0.02309	0.448000|0.448000	0.29417|0.29417	GAG|AGA	SLC22A10	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.358	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3	G	NM_001039752		63072163	1	no_errors	ENST00000332793	ensembl	human	known	70_37	missense	SNP	0.000	C	C	63072163	G	C	63072163	3	2	117	1	0	0	0	0	1	0	0	0	14471	942	33	1	1434	1	SLC22A10	11	63072163	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	500718	63072163	71934353	740	18208										
PPP1R14B	26472	genome.wustl.edu	37	chr11	64012723	64012723	+	Missense_Mutation	SNP	C	C	G													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actctccatgtccaggagctCatccacgtcaatctccagtt							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64012723C>G	ENST00000309318.3	-	2	562	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	RP11-783K16.13_ENST00000545800.1_lincRNA|RP11-783K16.5_ENST00000544553.1_RNA|PPP1R14B_ENST00000542235.1_Missense_Mutation_p.E24Q|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000392210.2_5'UTR	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	99					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						TCCAGGAGCTCATCCACGTCA	0.632																																																	0													52	45	48					11																	64012723		2201	4297	6498	SO:0001583	missense	26472			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.295G>C	11.37:g.64012723C>G	ENSP00000310117:p.Glu99Gln		Q504S7|Q7KZD7	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.E99Q	ENST00000309318.3	37	c.295	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	c	14.26	2.483595	0.44147	.	.	ENSG00000173457	ENST00000309318;ENST00000542235	.	.	.	3.52	2.6	0.31112	.	0.000000	0.85682	U	0.000000	T	0.77260	0.4104	M	0.83603	2.65	0.41402	D	0.987685	D	0.69078	0.997	D	0.79108	0.992	T	0.78580	-0.2149	9	0.62326	D	0.03	-25.0546	10.0232	0.42055	0.0:0.8962:0.0:0.1037	.	99	Q96C90	PP14B_HUMAN	Q	99;24	.	ENSP00000310117:E99Q	E	-	1	0	PPP1R14B	63769299	0.999000	0.42202	0.928000	0.36995	0.939000	0.58152	4.641000	0.61375	0.836000	0.34901	0.450000	0.29827	GAG	PPP1R14B	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor		0.632	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	C	NM_138689		64012723	-1	no_errors	ENST00000309318	ensembl	human	known	70_37	missense	SNP	0.998	G	G	64012723	C	G	64012723	3	3	117	1	0	0	0	0	1	0	0	0	12387	835	29	1	160	1	PPP1R14B	11	64012723	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	940560	64012723	70993793	741	18209	99	2								
PPP1R14B	26472	genome.wustl.edu	37	chr11	64012732	64012732	+	Missense_Mutation	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtccaggagctcatccacgtCaatctccagttctgggatct							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64012732C>T	ENST00000309318.3	-	2	553	c.286G>A	c.(286-288)Gac>Aac	p.D96N	RP11-783K16.13_ENST00000545800.1_lincRNA|RP11-783K16.5_ENST00000544553.1_RNA|PPP1R14B_ENST00000542235.1_Missense_Mutation_p.D21N|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000392210.2_5'UTR	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	96					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						TCATCCACGTCAATCTCCAGT	0.642																																																	0													48	42	44					11																	64012732		2201	4297	6498	SO:0001583	missense	26472			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.286G>A	11.37:g.64012732C>T	ENSP00000310117:p.Asp96Asn		Q504S7|Q7KZD7	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.D96N	ENST00000309318.3	37	c.286	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	c	16.46	3.129655	0.56721	.	.	ENSG00000173457	ENST00000309318;ENST00000542235	.	.	.	3.52	3.52	0.40303	.	0.000000	0.85682	U	0.000000	T	0.68787	0.3039	L	0.50993	1.605	0.53005	D	0.99996	D	0.69078	0.997	D	0.80764	0.994	T	0.69818	-0.5042	9	0.44086	T	0.13	-24.6965	14.4028	0.67060	0.0:1.0:0.0:0.0	.	96	Q96C90	PP14B_HUMAN	N	96;21	.	ENSP00000310117:D96N	D	-	1	0	PPP1R14B	63769308	1.000000	0.71417	0.761000	0.31378	0.801000	0.45260	6.385000	0.73182	1.983000	0.57843	0.450000	0.29827	GAC	PPP1R14B	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor		0.642	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	C	NM_138689		64012732	-1	no_errors	ENST00000309318	ensembl	human	known	70_37	missense	SNP	0.997	T	T	64012732	C	T	64012732	3	4	117	1	0	0	0	0	1	0	0	0	12387	826	29	1	169	1	PPP1R14B	11	64012732	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9	64012732	70993784	742	18210	99	2								
CCDC88B	283234	genome.wustl.edu	37	chr11	64112488	64112488	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcagcagcgggccgggagcgGaggcagtgggagcgtgaggg	24	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64112488G>A	ENST00000356786.5	+	14	2519	c.2475G>A	c.(2473-2475)cgG>cgA	p.R825R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	825						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCGGGAGCGGAGGCAGTGGG	0.736																																																	0													6	7	6					11																	64112488		2025	3993	6018	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2475G>A	11.37:g.64112488G>A			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.R825	ENST00000356786.5	37	c.2475	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.736	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64112488	1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	0.968	A	A	64112488	G	A	64112488	2	1	117	1	0	0	0	0	0	0	0	1	2869	1161	41	1		1	CCDC88B	11	64112488	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	99756	64112488	70894028	743	18211										
ATG2A	23130	genome.wustl.edu	37	chr11	64669734	64669734	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagcacccccacttcacctGaaggctgggccagctcccgt	9	18	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64669734G>A	ENST00000377264.3	-	28	4014	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1303L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1301					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACTTCACCTGAAGGCTGGGC	0.672																																																	0													27	29	28					11																	64669734		2201	4297	6498	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3902C>T	11.37:g.64669734G>A	ENSP00000366475:p.Ser1301Leu		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S1303L	ENST00000377264.3	37	c.3908	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398759	0.42512	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07327	3.21;3.2	4.01	4.01	0.46588	.	0.626506	0.13812	N	0.361080	T	0.06600	0.0169	N	0.16903	0.455	0.32857	D	0.507501	B;B	0.29552	0.16;0.248	B;B	0.32090	0.066;0.14	T	0.15896	-1.0421	10	0.35671	T	0.21	.	11.8522	0.52417	0.0:0.0:1.0:0.0	.	1301;1303	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1303;1301	ENSP00000410522:S1303L;ENSP00000366475:S1301L	ENSP00000366475:S1301L	S	-	2	0	ATG2A	64426310	0.991000	0.36638	0.886000	0.34754	0.810000	0.45777	2.440000	0.44855	2.251000	0.74343	0.563000	0.77884	TCA	ATG2A	-	NULL		0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	G	NM_015104		64669734	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	0.960	A	A	64669734	G	A	64669734	3	1	117	1	0	0	0	0	1	0	0	0	1094	1294	45	1	1970	1	ATG2A	11	64669734	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	557246	64669734	70336782	744	18212										
PPP2R5B	5526	genome.wustl.edu	37	chr11	64695769	64695769	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgactctggttcccacagctCctggagctatttgatagtga	10	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64695769C>A	ENST00000164133.2	+	6	1216	c.594C>A	c.(592-594)ctC>ctA	p.L198L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCCCACAGCTCCTGGAGCTAT	0.607																																																	0													51	45	47					11																	64695769		2201	4297	6498	SO:0001819	synonymous_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.594C>A	11.37:g.64695769C>A			Q13853	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.L198	ENST00000164133.2	37	c.594	CCDS8085.1	11																																																																																			PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.607	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	C	NM_006244		64695769	1	no_errors	ENST00000164133	ensembl	human	known	70_37	silent	SNP	0.986	A	A	64695769	C	A	64695769	2	1	117	1	0	0	0	0	0	0	0	1	12420	842	30	3		3	PPP2R5B	11	64695769	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	26035	64695769	70310747	745	18213										
CAPN1	823	genome.wustl.edu	37	chr11	64954750	64954750	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtgaagggccatgcctactCtgtgaccggggccaagcagg	16	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64954750C>G	ENST00000527323.1	+	6	1064	c.824C>G	c.(823-825)tCt>tGt	p.S275C	CAPN1_ENST00000533129.1_Missense_Mutation_p.S275C|CAPN1_ENST00000279247.6_Missense_Mutation_p.S275C|CAPN1_ENST00000533820.1_Missense_Mutation_p.S275C|CAPN1_ENST00000524773.1_Missense_Mutation_p.S275C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	275	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CATGCCTACTCTGTGACCGGG	0.607																																																	0													47	50	49					11																	64954750		2034	4183	6217	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.824C>G	11.37:g.64954750C>G	ENSP00000431984:p.Ser275Cys		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S275C	ENST00000527323.1	37	c.824	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431724	0.83776	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	4.56	4.56	0.56223	Peptidase C2, calpain, catalytic domain (3);	0.113304	0.64402	D	0.000007	D	0.97455	0.9167	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98789	1.0735	10	0.87932	D	0	.	15.2006	0.73132	0.0:1.0:0.0:0.0	.	275	P07384	CAN1_HUMAN	C	275;275;275;275;221;275;170	ENSP00000435272:S275C;ENSP00000431686:S275C;ENSP00000434176:S275C;ENSP00000279247:S275C;ENSP00000431984:S275C;ENSP00000433366:S170C	ENSP00000259755:S221C	S	+	2	0	CAPN1	64711326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.271000	0.75665	0.505000	0.49811	TCT	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.607	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	C			64954750	1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64954750	C	G	64954750	3	3	117	1	0	0	0	0	1	0	0	0	2627	913	32	1	846	1	CAPN1	11	64954750	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	258981	64954750	70051766	746	18214										
CAPN1	823	genome.wustl.edu	37	chr11	64956162	64956162	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgcaaatggaacaccacactCtacgaaggcacctggcggcg	11	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64956162C>G	ENST00000527323.1	+	9	1350	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	CAPN1_ENST00000533129.1_Silent_p.L370L|CAPN1_ENST00000279247.6_Silent_p.L370L|CAPN1_ENST00000533820.1_Silent_p.L370L|CAPN1_ENST00000524773.1_Silent_p.L370L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	370	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ACACCACACTCTACGAAGGCA	0.647																																																	0													31	34	33					11																	64956162		1962	4137	6099	SO:0001819	synonymous_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1110C>G	11.37:g.64956162C>G			Q2TTR0|Q6DHV4	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L370	ENST00000527323.1	37	c.1110	CCDS44644.1	11																																																																																			CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.647	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	C			64956162	1	no_errors	ENST00000279247	ensembl	human	known	70_37	silent	SNP	0.034	G	G	64956162	C	G	64956162	2	3	117	1	0	0	0	0	0	0	0	1	2627	900	32	1		1	CAPN1	11	64956162	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1412	64956162	70050354	747	18215										
CAPN1	823	genome.wustl.edu	37	chr11	64974041	64974041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgagaggtcagcacccgcttCcgcctgccacccggggagta	13	16	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64974041C>A	ENST00000527323.1	+	12	1701	c.1461C>A	c.(1459-1461)ttC>ttA	p.F487L	CAPN1_ENST00000533129.1_Missense_Mutation_p.F487L|CAPN1_ENST00000279247.6_Missense_Mutation_p.F487L|CAPN1_ENST00000533820.1_Missense_Mutation_p.F487L|CAPN1_ENST00000524773.1_Missense_Mutation_p.F487L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	487	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCACCCGCTTCCGCCTGCCAC	0.627																																																	0													46	53	51					11																	64974041		2113	4235	6348	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1461C>A	11.37:g.64974041C>A	ENSP00000431984:p.Phe487Leu		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.F487L	ENST00000527323.1	37	c.1461	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585683	0.46110	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.26	3.3	0.37823	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.529829	0.20321	N	0.094625	T	0.81777	0.4894	N	0.25825	0.765	0.37430	D	0.913997	B	0.02656	0.0	B	0.10450	0.005	T	0.78006	-0.2373	10	0.32370	T	0.25	.	13.4647	0.61247	0.0:0.6451:0.3549:0.0	.	487	P07384	CAN1_HUMAN	L	487;487;487;487;433;487	ENSP00000435272:F487L;ENSP00000431686:F487L;ENSP00000434176:F487L;ENSP00000279247:F487L;ENSP00000431984:F487L	ENSP00000259755:F433L	F	+	3	2	CAPN1	64730617	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.072000	0.30678	1.184000	0.42957	0.462000	0.41574	TTC	CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.627	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	C			64974041	1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64974041	C	A	64974041	3	1	117	1	0	0	0	0	1	0	0	0	2627	854	30	3	1507	3	CAPN1	11	64974041	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	17879	64974041	70032475	748	18216										
LTBP3	4054	genome.wustl.edu	37	chr11	65308423	65308423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggcagaggctgtggaactCggctgcaggggcagggcggc	21	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:65308423C>T	ENST00000301873.5	-	21	3164	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.E396K|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.E592K|LTBP3_ENST00000322147.4_Missense_Mutation_p.E966K	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	966	TB 3.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTGTGGAACTCGGCTGCAGGG	0.677											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	77	81					11																	65308423		2201	4297	6498	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2896G>A	11.37:g.65308423C>T	ENSP00000301873:p.Glu966Lys	1083	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E966K	ENST00000301873.5	37	c.2896	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440434|4.440434	0.83993|0.83993	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.94046|.	-3.34;-3.34;-3.34;-3.34;-3.34|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Matrix fibril-associated (3);TGF-beta binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79811|0.79811	0.4510|0.4510	M|M	0.88241|0.88241	2.94|2.94	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P;P;D;P|.	0.57571|.	0.84;0.98;0.956;0.706;0.98;0.924|.	B;B;B;B;P;B|.	0.44518|.	0.142;0.327;0.261;0.153;0.452;0.343|.	D|D	0.83760|0.83760	0.0214|0.0214	10|5	0.10636|.	T|.	0.68|.	.|.	14.5688|14.5688	0.68197|0.68197	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	877;592;849;966;966;396|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	K|Q	966;966;396;592;877|616	ENSP00000326647:E966K;ENSP00000301873:E966K;ENSP00000435530:E396K;ENSP00000441912:E592K;ENSP00000435276:E877K|.	ENSP00000301873:E966K|.	E|R	-|-	1|2	0|0	LTBP3|LTBP3	65064999|65064999	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.496000|0.496000	0.33645|0.33645	4.904000|4.904000	0.63279|0.63279	2.025000|2.025000	0.59659|0.59659	0.455000|0.455000	0.32223|0.32223	GAG|CGA	LTBP3	-	pfam_TB_dom,superfamily_TB_dom		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	C	NM_021070		65308423	-1	no_errors	ENST00000301873	ensembl	human	known	70_37	missense	SNP	0.998	T	T	65308423	C	T	65308423	3	4	117	1	0	0	0	0	1	0	0	0	9098	893	31	1	1047	1	LTBP3	11	65308423	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	334382	65308423	69698093	749	18217										
RELA	5970	genome.wustl.edu	37	chr11	65429479	65429479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgcccgcggagcgcccctCgcacttgtagcggaagcgca	14	16	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:65429479C>T	ENST00000406246.3	-	3	376	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RELA_ENST00000308639.9_Missense_Mutation_p.E39K|RELA_ENST00000525693.1_Missense_Mutation_p.E39K	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	39	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GAGCGCCCCTCGCACTTGTAG	0.667																																																	0													65	59	61					11																	65429479		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.115G>A	11.37:g.65429479C>T	ENSP00000384273:p.Glu39Lys		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E39K	ENST00000406246.3	37	c.115	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.042657	0.97231	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749;ENST00000532879;ENST00000533187;ENST00000527874;ENST00000534283	T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.52	4.52	0.55395	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87997	0.6319	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.99;0.994;1.0;1.0	D	0.91174	0.4971	10	0.87932	D	0	-25.2153	15.1015	0.72279	0.0:1.0:0.0:0.0	.	39;39;39;39;39	Q04206-3;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;TF65_HUMAN;.;.	K	39;39;39;39;39;39;30;8;39;8;8;8	ENSP00000384273:E39K;ENSP00000432537:E39K;ENSP00000311508:E39K;ENSP00000433526:E39K;ENSP00000434372:E30K;ENSP00000436545:E8K;ENSP00000431153:E39K;ENSP00000434098:E8K;ENSP00000435531:E8K;ENSP00000433616:E8K	ENSP00000311508:E39K	E	-	1	0	RELA	65186055	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.190000	0.77755	2.510000	0.84645	0.655000	0.94253	GAG	RELA	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor		0.667	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65429479	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65429479	C	T	65429479	3	4	117	1	0	0	0	0	1	0	0	0	13246	893	31	1	1576	1	RELA	11	65429479	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	121056	65429479	69577037	750	18218										
KDM2A	22992	genome.wustl.edu	37	chr11	67022514	67022514	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctgacgagaagctgatacaGaagatcagctaagacacacc	9	10	2	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:67022514G>A	ENST00000529006.2	+	21	3923	c.3477G>A	c.(3475-3477)caG>caA	p.Q1159Q	KDM2A_ENST00000530342.1_Silent_p.Q720Q|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Silent_p.Q617Q|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1159					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTGATACAGAAGATCAGCT	0.547																																																	0													39	40	40					11																	67022514		2049	4210	6259	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3477G>A	11.37:g.67022514G>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q1159	ENST00000529006.2	37	c.3477	CCDS44657.1	11																																																																																			KDM2A	-	NULL		0.547	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		67022514	1	no_errors	ENST00000529006	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67022514	G	A	67022514	2	1	117	1	0	0	0	0	0	0	0	1	8144	933	33	1		1	KDM2A	11	67022514	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1593035	67022514	67984002	751	18219										
FGF4	2249	genome.wustl.edu	37	chr11	69588887	69588887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgctccacgggcgagagctCcagcaggcctgggggcgggg	19	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:69588887C>T	ENST00000168712.1	-	2	667	c.349G>A	c.(349-351)Gag>Aag	p.E117K	FGF4_ENST00000538040.1_Intron|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	117					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGCGAGAGCTCCAGCAGGCCT	0.692																																																	0													21	24	23					11																	69588887		2194	4293	6487	SO:0001583	missense	2249			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.349G>A	11.37:g.69588887C>T	ENSP00000168712:p.Glu117Lys		B7U994	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.E117K	ENST00000168712.1	37	c.349	CCDS8194.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.461098	0.96240	.	.	ENSG00000075388	ENST00000168712	D	0.82711	-1.64	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000119	D	0.90978	0.7163	M	0.88377	2.95	0.80722	D	1	P	0.50943	0.94	P	0.56434	0.798	D	0.91998	0.5608	9	.	.	.	.	17.3071	0.87198	0.0:1.0:0.0:0.0	.	117	P08620	FGF4_HUMAN	K	117	ENSP00000168712:E117K	.	E	-	1	0	FGF4	69298068	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.444000	0.60001	2.523000	0.85059	0.655000	0.94253	GAG	FGF4	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.692	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF4	HGNC	protein_coding	OTTHUMT00000396834.2	C	NM_002007		69588887	-1	no_errors	ENST00000168712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69588887	C	T	69588887	3	4	117	1	0	0	0	0	1	0	0	0	5872	864	30	1	279	1	FGF4	11	69588887	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2566373	69588887	65417629	752	18220										
C2CD3	26005	genome.wustl.edu	37	chr11	73825446	73825446	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taccgcttttttgctgtagtCaccttaggtggtggaccagc	11	10	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.V571V(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTGCTGTAGTCACCTTAGGTG	0.408																																																	4	Substitution - coding silent(4)	lung(4)											100	88	92					11																	73825446		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1713G>A	11.37:g.73825446C>T			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.V571	ENST00000334126.7	37	c.1713		11																																																																																			C2CD3	-	smart_C2_Ca-dep		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73825446	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	silent	SNP	0.000	T	T	73825446	C	T	73825446	2	4	117	1	0	0	0	0	0	0	0	1	2159	813	29	1		1	C2CD3	11	73825446	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4236559	73825446	61181070	753	18221										
XRRA1	143570	genome.wustl.edu	37	chr11	74651915	74651915	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccagcttgtagattcctgaGaaggccatctccctgagagc	10	12	1	3	rs75258704	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:74651915G>C	ENST00000340360.6	-	3	340	c.9C>G	c.(7-9)ttC>ttG	p.F3L	XRRA1_ENST00000527087.1_Missense_Mutation_p.F3L|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000533598.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGATTCCTGAGAAGGCCATCT	0.542																																																	0													49	49	49					11																	74651915		2147	4262	6409	SO:0001583	missense	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.9C>G	11.37:g.74651915G>C	ENSP00000339918:p.Phe3Leu			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F3L	ENST00000340360.6	37	c.9	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710501	0.30322	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.46451	0.87;0.87;1.02	5.28	-3.93	0.04143	.	0.352764	0.20970	N	0.082404	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.002;0.004	T	0.25641	-1.0126	10	0.11485	T	0.65	-4.0741	5.3331	0.15944	0.5359:0.0:0.2926:0.1715	.	3;3	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	L	3	ENSP00000339918:F3L;ENSP00000435838:F3L;ENSP00000437334:F3L	ENSP00000339918:F3L	F	-	3	2	XRRA1	74329563	0.206000	0.23470	0.039000	0.18376	0.794000	0.44872	-0.201000	0.09464	-0.409000	0.07553	0.563000	0.77884	TTC	XRRA1	-	NULL		0.542	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	G	NM_182969		74651915	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	missense	SNP	0.002	C	C	74651915	G	C	74651915	3	2	117	1	0	0	0	0	1	0	0	0	17492	933	33	1	2437	1	XRRA1	11	74651915	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	826469	74651915	60354601	754	18222										
USP35	57558	genome.wustl.edu	37	chr11	77911809	77911809	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactgcatggtgttccggttCccgggcttcccggatctgta	12	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F115F|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	384					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622																																																	0													75	80	78					11																	77911809		1937	4122	6059	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1152C>T	11.37:g.77911809C>T				Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.F384	ENST00000529308.1	37	c.1152	CCDS41693.1	11																																																																																			USP35	-	superfamily_ARM-type_fold		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	C	XM_290527		77911809	1	no_errors	ENST00000529308	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77911809	C	T	77911809	2	4	117	1	0	0	0	0	0	0	0	1	17097	854	30	1		1	USP35	11	77911809	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3259894	77911809	57094707	755	18223										
SYTL2	54843	genome.wustl.edu	37	chr11	85436841	85436841	+	Intron	SNP	G	G	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctcattaatgatcttctcaGgtcctttgacttcttcctca							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:85436841G>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.P744H|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P220H|SYTL2_ENST00000525423.1_Missense_Mutation_p.P220H|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATCTTCTCAGGTCCTTTGAC	0.388																																																	0													151	139	143					11																	85436841		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2097C>A	11.37:g.85436841G>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P744H	ENST00000528231.1	37	c.2231	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236862	0.05944	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.58797	0.35;0.31;0.33	5.55	2.64	0.31445	.	0.415904	0.20608	N	0.089022	T	0.31513	0.0799	N	0.11560	0.145	0.09310	N	1	B;B;B	0.31599	0.33;0.102;0.102	B;B;B	0.31614	0.133;0.063;0.063	T	0.13415	-1.0510	9	.	.	.	-0.6551	5.5486	0.17078	0.1571:0.0:0.6822:0.1608	.	220;220;220	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	H	744;220;220	ENSP00000352065:P744H;ENSP00000346576:P220H;ENSP00000432694:P220H	.	P	-	2	0	SYTL2	85114489	0.068000	0.21057	0.001000	0.08648	0.334000	0.28698	0.841000	0.27613	0.424000	0.26061	0.655000	0.94253	CCT	SYTL2	-	NULL		0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85436841	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.002	T	T	85436841	G	T	85436841	1	4	117	0	1	0	0	0	0	0	0	0	15513	1000	35	4		4	SYTL2	11	85436841	Intron	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7525032	85436841	49569675	756	18224	100	2								
SYTL2	54843	genome.wustl.edu	37	chr11	85436849	85436849	+	Intron	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgatcttctcaggtcctttGacttcttcctcagtatcagc							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:85436849G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000359152.5_Silent_p.V741V|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Silent_p.V217V|SYTL2_ENST00000525423.1_Silent_p.V217V|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAGGTCCTTTGACTTCTTCCT	0.393																																																	0													155	140	145					11																	85436849		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2089C>T	11.37:g.85436849G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V741	ENST00000528231.1	37	c.2223	CCDS53688.1	11																																																																																			SYTL2	-	NULL		0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85436849	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	silent	SNP	0.002	A	A	85436849	G	A	85436849	1	1	117	0	1	0	0	0	0	0	0	0	15513	1277	45	1		1	SYTL2	11	85436849	Intron	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8	85436849	49569667	757	18225	100	2								
NOX4	50507	genome.wustl.edu	37	chr11	89155129	89155129	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaggttatgagtataccaGaagatatcatagttagaaac	9	4	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:89155129G>A	ENST00000263317.4	-	8	808	c.570C>T	c.(568-570)ttC>ttT	p.F190F	NOX4_ENST00000527956.1_Silent_p.F166F|NOX4_ENST00000542487.1_Silent_p.F166F|NOX4_ENST00000534731.1_Silent_p.F190F|NOX4_ENST00000525196.1_Silent_p.F190F|NOX4_ENST00000343727.5_Silent_p.F166F|NOX4_ENST00000528341.1_Silent_p.F165F|NOX4_ENST00000535633.1_Silent_p.F166F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.F211F|NOX4_ENST00000532825.1_Silent_p.F166F|NOX4_ENST00000424319.1_Silent_p.F166F|NOX4_ENST00000527626.1_Silent_p.F24F|NOX4_ENST00000375979.3_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	190	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAGTATACCAGAAGATATCAT	0.318																																																	0													102	102	102					11																	89155129		2201	4298	6499	SO:0001819	synonymous_variant	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.570C>T	11.37:g.89155129G>A			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.F211	ENST00000263317.4	37	c.633	CCDS8285.1	11																																																																																			NOX4	-	pfam_Fe3_Rdtase_TM_dom		0.318	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	G	NM_016931		89155129	-1	no_errors	ENST00000413594	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89155129	G	A	89155129	2	1	117	1	0	0	0	0	0	0	0	1	10582	933	33	1		1	NOX4	11	89155129	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3718280	89155129	45851387	758	18226										
MED17	9440	genome.wustl.edu	37	chr11	93517706	93517706	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggtgcgcgcagtgcggatCagcatcgaatcggcctgcga	17	11	1	0	rs376774687		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:93517706C>T	ENST00000251871.3	+	1	314	c.27C>T	c.(25-27)atC>atT	p.I9I	MED17_ENST00000530819.1_Silent_p.I9I	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	9					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGTGCGGATCAGCATCGAAT	0.657																																																	0								C		1,4401	2.1+/-5.4	0,1,2200	43	37	39		27	5.8	1	11		39	0,8594		0,0,4297	no	coding-synonymous	MED17	NM_004268.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		9/652	93517706	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.27C>T	11.37:g.93517706C>T			B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Silent	SNP	pfam_Mediator_Med17	p.I9	ENST00000251871.3	37	c.27	CCDS8295.1	11																																																																																			MED17	-	pfam_Mediator_Med17		0.657	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	C	NM_004268		93517706	1	no_errors	ENST00000251871	ensembl	human	known	70_37	silent	SNP	1.000	T	T	93517706	C	T	93517706	2	4	117	1	0	0	0	0	0	0	0	1	9458	816	29	1		1	MED17	11	93517706	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4362577	93517706	41488810	759	18227										
MRE11A	4361	genome.wustl.edu	37	chr11	94204765	94204765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tacagcttctcctggggaaaGagaagtaaccactgagcttc	10	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:94204765G>C	ENST00000323929.3	-	8	1042	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	MRE11A_ENST00000407439.3_Missense_Mutation_p.L277V|MRE11A_ENST00000323977.3_Missense_Mutation_p.L274V|MRE11A_ENST00000393241.4_Missense_Mutation_p.L274V|RP11-685N10.1_ENST00000541092.1_RNA	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	274					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCTGGGGAAAGAGAAGTAACC	0.363								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								0													90	96	94					11																	94204765		2201	4298	6499	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.820C>G	11.37:g.94204765G>C	ENSP00000325863:p.Leu274Val		O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.L274V	ENST00000323929.3	37	c.820	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446734	0.84101	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.94841	0.8005	10	0.87932	D	0	-23.6925	19.6399	0.95753	0.0:0.0:1.0:0.0	.	277;274;274	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	V	274;277;274;274	ENSP00000325863:L274V;ENSP00000385614:L277V;ENSP00000326094:L274V;ENSP00000376933:L274V	ENSP00000325863:L274V	L	-	1	0	MRE11A	93844413	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.772000	0.85439	2.721000	0.93114	0.585000	0.79938	CTT	MRE11A	-	pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11		0.363	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	G	NM_005591		94204765	-1	no_errors	ENST00000323929	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94204765	G	C	94204765	3	2	117	1	0	0	0	0	1	0	0	0	9782	942	33	1	1358	1	MRE11A	11	94204765	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	687059	94204765	40801751	760	18228										
ENDOD1	23052	genome.wustl.edu	37	chr11	94862392	94862392	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgcctgggctcagccaccatCtcatacttcatggccattgg	9	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:94862392C>G	ENST00000278505.4	+	2	1270	c.1152C>G	c.(1150-1152)atC>atG	p.I384M		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	384						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CAGCCACCATCTCATACTTCA	0.498																																																	0													124	113	117					11																	94862392		1980	4168	6148	SO:0001583	missense	23052			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1152C>G	11.37:g.94862392C>G	ENSP00000278505:p.Ile384Met		A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	p.I384M	ENST00000278505.4	37	c.1152	CCDS41699.1	11	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798258	0.16397	.	.	ENSG00000149218	ENST00000278505	T	0.34472	1.36	6.03	1.92	0.25849	.	0.998210	0.08111	N	0.996128	T	0.33381	0.0861	L	0.57536	1.79	0.09310	N	1	P	0.34780	0.468	B	0.29267	0.1	T	0.26258	-1.0108	10	0.72032	D	0.01	-5.4338	8.8098	0.34961	0.0:0.4922:0.35:0.1578	.	384	O94919	ENDD1_HUMAN	M	384	ENSP00000278505:I384M	ENSP00000278505:I384M	I	+	3	3	ENDOD1	94502040	0.139000	0.22563	0.025000	0.17156	0.678000	0.39670	-0.145000	0.10265	0.428000	0.26173	0.557000	0.71058	ATC	ENDOD1	-	NULL		0.498	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENDOD1	HGNC	protein_coding	OTTHUMT00000396545.1	C	NM_015036		94862392	1	no_errors	ENST00000278505	ensembl	human	known	70_37	missense	SNP	0.099	G	G	94862392	C	G	94862392	3	3	117	1	0	0	0	0	1	0	0	0	5126	903	32	1	1158	1	ENDOD1	11	94862392	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	657627	94862392	40144124	761	18229										
CNTN5	53942	genome.wustl.edu	37	chr11	99715931	99715931	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaaggattctggtcattatCagtgtttagcaaccaacact	7	9	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:99715931C>T	ENST00000524871.1	+	6	804	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	CNTN5_ENST00000279463.3_Nonsense_Mutation_p.Q172*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.Q98*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.Q172*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.Q172*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	172	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGTCATTATCAGTGTTTAGC	0.358																																																	0													132	127	128					11																	99715931		1843	4111	5954	SO:0001587	stop_gained	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.514C>T	11.37:g.99715931C>T	ENSP00000435637:p.Gln172*		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q172*	ENST00000524871.1	37	c.514	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.963303	0.97151	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	.	.	.	X	172;172;172;98;172	.	ENSP00000279463:Q172X	Q	+	1	0	CNTN5	99221141	1.000000	0.71417	0.993000	0.49108	0.900000	0.52787	7.426000	0.80270	2.639000	0.89480	0.650000	0.86243	CAG	CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	C	NM_014361		99715931	1	no_errors	ENST00000279463	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	99715931	C	T	99715931	4	4	117	1	0	0	0	0	0	1	0	0	3649	827	29	1	528	1	CNTN5	11	99715931	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4853539	99715931	35290585	762	18230										
DCUN1D5	84259	genome.wustl.edu	37	chr11	102954050	102954050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctggccctacaacttcatCaggaccttcaaagacaaaaa	5	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:102954050C>T	ENST00000260247.5	-	3	526	c.184G>A	c.(184-186)Gat>Aat	p.D62N	DCUN1D5_ENST00000531543.1_Intron	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	62	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		ACAACTTCATCAGGACCTTCA	0.303																																																	0													50	50	50					11																	102954050		2201	4294	6495	SO:0001583	missense	84259				CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.184G>A	11.37:g.102954050C>T	ENSP00000260247:p.Asp62Asn		Q3ZTT2	Missense_Mutation	SNP	pfam_PONY_dom	p.D62N	ENST00000260247.5	37	c.184	CCDS8325.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063158	0.76187	.	.	ENSG00000137692	ENST00000260247	.	.	.	5.72	5.72	0.89469	Domain of unknown function DUF298 (1);	0.113194	0.64402	D	0.000017	T	0.66056	0.2751	M	0.73430	2.235	0.80722	D	1	P	0.39847	0.691	B	0.37833	0.259	T	0.67964	-0.5534	9	0.42905	T	0.14	-18.4152	19.8908	0.96929	0.0:1.0:0.0:0.0	.	62	Q9BTE7	DCNL5_HUMAN	N	62	.	ENSP00000260247:D62N	D	-	1	0	DCUN1D5	102459260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.483000	0.81158	2.707000	0.92482	0.650000	0.86243	GAT	DCUN1D5	-	NULL		0.303	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D5	HGNC	protein_coding	OTTHUMT00000386382.2	C	NM_032299		102954050	-1	no_errors	ENST00000260247	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102954050	C	T	102954050	3	4	117	1	0	0	0	0	1	0	0	0	4322	826	29	1	553	1	DCUN1D5	11	102954050	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3238119	102954050	32052466	763	18231										
GUCY1A2	2977	genome.wustl.edu	37	chr11	106810318	106810318	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgaagcagtcctcaaacttGagcactttgtgagtgtcaca	9	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:106810318G>A	ENST00000526355.2	-	4	1542	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	GUCY1A2_ENST00000282249.2_Silent_p.L358L|GUCY1A2_ENST00000347596.2_Silent_p.L358L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	358					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCTCAAACTTGAGCACTTTGT	0.488																																																	0													94	86	89					11																	106810318		2201	4298	6499	SO:0001819	synonymous_variant	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1074C>T	11.37:g.106810318G>A			A1L4C4|B7ZLT5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L358	ENST00000526355.2	37	c.1074	CCDS8335.1	11																																																																																			GUCY1A2	-	pfam_Haem_no_assoc-bd		0.488	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	G			106810318	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	silent	SNP	1.000	A	A	106810318	G	A	106810318	2	1	117	1	0	0	0	0	0	0	0	1	6913	1277	45	1		1	GUCY1A2	11	106810318	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3856268	106810318	28196198	764	18232										
CWF19L2	143884	genome.wustl.edu	37	chr11	107207441	107207442	+	Splice_Site	INS	-	-	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caatgattttctgaacatctINSaaaaaaaaaaaagaactagg					rs540909186		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:107207441_107207442insA	ENST00000282251.5	-	15	2230		c.e15-2			NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)								catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257																																																	0																																										SO:0001630	splice_region_variant	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2203-2->T	11.37:g.107207452_107207452dupA			A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Splice_Site	INS	-	e15-2	ENST00000282251.5	37	c.2203-3_2203-2	CCDS8336.2	11																																																																																			CWF19L2	-	-		0.257	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	NM_152434	Intron	107207442	-1	no_errors	ENST00000282251	ensembl	human	known	70_37	splice_site_ins	INS	0.999:0.586	A	A	107207442	-	A	107207441	8	5	117	1	0	1	1	0	0	0	1	0	4077	1536	53	0	499	0	CWF19L2	11	107207441	Splice_Site	INS	-	TCGA-EK-A3GK-01A-11D-A20U-09	397123	107207441	27799075	765	18233										
ALKBH8	91801	genome.wustl.edu	37	chr11	107420538	107420538	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcggaatgtgtatcaatatGagcgggaattcctgagatgg	14	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:107420538G>C	ENST00000428149.2	-	7	863	c.712C>G	c.(712-714)Cat>Gat	p.H238D	ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.H241D|ALKBH8_ENST00000389568.3_Missense_Mutation_p.H238D	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	238	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTATCAATATGAGCGGGAATT	0.368																																																	0													132	115	121					11																	107420538		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.712C>G	11.37:g.107420538G>C	ENSP00000415885:p.His238Asp		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.H241D	ENST00000428149.2	37	c.721	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380778	0.82792	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	D;D;D	0.93953	-3.32;-3.32;-3.32	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (2);	0.112159	0.64402	D	0.000003	D	0.98096	0.9372	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98794	1.0737	10	0.87932	D	0	-11.4972	19.3802	0.94530	0.0:0.0:1.0:0.0	.	238	Q96BT7	ALKB8_HUMAN	D	238;238;241	ENSP00000415885:H238D;ENSP00000374219:H238D;ENSP00000397673:H241D	ENSP00000374219:H238D	H	-	1	0	ALKBH8	106925748	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.016000	0.88706	2.822000	0.97130	0.650000	0.86243	CAT	ALKBH8	-	pfam_Oxoglu/Fe-dep_dioxygenase		0.368	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	G	NM_138775		107420538	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107420538	G	C	107420538	3	2	117	1	0	0	0	0	1	0	0	0	533	1290	45	1	1306	1	ALKBH8	11	107420538	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	213097	107420538	27585978	766	18234										
ZC3H12C	85463	genome.wustl.edu	37	chr11	110036067	110036067	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgagaatagacagcatctctGactctcgactttatgacagt	8	10	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:110036067G>C	ENST00000278590.3	+	6	2308	c.2257G>C	c.(2257-2259)Gac>Cac	p.D753H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D754H|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D722H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	753							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAGCATCTCTGACTCTCGACT	0.562																																																	0													156	163	161					11																	110036067		2088	4216	6304	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2257G>C	11.37:g.110036067G>C	ENSP00000278590:p.Asp753His		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D753H	ENST00000278590.3	37	c.2257	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871375	0.51695	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.41400	1.0;1.0;1.01	5.92	5.92	0.95590	.	0.096845	0.64402	D	0.000001	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.67608	-0.5627	10	0.87932	D	0	-26.6989	20.3206	0.98668	0.0:0.0:1.0:0.0	.	754;753;753	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	753;754;722	ENSP00000278590:D753H;ENSP00000431821:D754H;ENSP00000413094:D722H	ENSP00000278590:D753H	D	+	1	0	ZC3H12C	109541277	1.000000	0.71417	0.875000	0.34327	0.071000	0.16799	7.582000	0.82546	2.809000	0.96659	0.655000	0.94253	GAC	ZC3H12C	-	NULL		0.562	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110036067	1	no_errors	ENST00000278590	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110036067	G	C	110036067	3	2	117	1	0	0	0	0	1	0	0	0	17593	1290	45	1	2279	1	ZC3H12C	11	110036067	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2615529	110036067	24970449	767	18235										
CEP164	22897	genome.wustl.edu	37	chr11	117265190	117265190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caagcgtcttgaggacttgcGgcgccggcacagggagcagg	17	11	1	1	rs550799764	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:117265190G>A	ENST00000278935.3	+	21	2888	c.2741G>A	c.(2740-2742)cGg>cAg	p.R914Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	914	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGGACTTGCGGCGCCGGCAC	0.662																																																	0													39	40	40					11																	117265190		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2741G>A	11.37:g.117265190G>A	ENSP00000278935:p.Arg914Gln		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R914Q	ENST00000278935.3	37	c.2741	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	9.007	0.981452	0.18812	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42513	0.97	4.55	4.55	0.56014	.	0.333926	0.21625	N	0.071573	T	0.36082	0.0954	L	0.58669	1.825	0.19775	N	0.999956	B;B;B;B	0.32893	0.052;0.366;0.017;0.389	B;B;B;B	0.28011	0.009;0.05;0.002;0.085	T	0.25882	-1.0119	10	0.34782	T	0.22	-9.1608	10.5248	0.44941	0.094:0.0:0.906:0.0	.	888;688;914;917	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	Q	914;888;795	ENSP00000278935:R914Q	ENSP00000278935:R914Q	R	+	2	0	CEP164	116770400	0.530000	0.26330	0.938000	0.37757	0.671000	0.39405	0.438000	0.21559	2.245000	0.73994	0.591000	0.81541	CGG	CEP164	-	NULL		0.662	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117265190	1	no_errors	ENST00000278935	ensembl	human	known	70_37	missense	SNP	0.505	A	A	117265190	G	A	117265190	3	1	117	1	0	0	0	0	1	0	0	0	3254	1116	39	2	2815	2	CEP164	11	117265190	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7229123	117265190	17741326	768	18236										
MLL	4297	genome.wustl.edu	37	chr11	118376214	118376214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atccccaacttttggtttcaGaatccagccagaggacagac	8	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:118376214G>C	ENST00000389506.5	+	27	9598	c.9598G>C	c.(9598-9600)Gaa>Caa	p.E3200Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.E3162Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.E3203Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3200					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTGGTTTCAGAATCCAGCCA	0.488																																																	0													79	84	82					11																	118376214		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9598G>C	11.37:g.118376214G>C	ENSP00000374157:p.Glu3200Gln		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.E3200Q	ENST00000389506.5	37	c.9598	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660118	0.47572	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85773	-2.02;-2.03;-1.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.90590	0.4536	10	0.46703	T	0.11	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	3203;3200	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3203;3200;3162;2110	ENSP00000436786:E3203Q;ENSP00000374157:E3200Q;ENSP00000346516:E3162Q	ENSP00000346516:E3162Q	E	+	1	0	MLL	117881424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.894000	0.99253	0.591000	0.81541	GAA	MLL	-	pirsf_MeTrfase_trithorax		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118376214	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118376214	G	C	118376214	3	2	117	1	0	0	0	0	1	0	0	0	9643	943	33	1	9704	1	MLL	11	118376214	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1111024	118376214	16630302	769	18237										
MLL	4297	genome.wustl.edu	37	chr11	118390715	118390715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acttcctggcttctaaacatCgtcagcctcctgaatacaac	5	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:118390715C>T	ENST00000389506.5	+	33	11356	c.11356C>T	c.(11356-11358)Cgt>Tgt	p.R3786C	RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.R3748C|KMT2A_ENST00000534358.1_Missense_Mutation_p.R3789C|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3786					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTCTAAACATCGTCAGCCTCC	0.423																																																	0													95	91	92					11																	118390715		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11356C>T	11.37:g.118390715C>T	ENSP00000374157:p.Arg3786Cys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R3786C	ENST00000389506.5	37	c.11356	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748583	0.69533	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.84660	-1.88;-1.88;-1.84	5.9	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93903	0.7190	10	0.87932	D	0	.	16.4669	0.84081	0.1317:0.8683:0.0:0.0	.	3789;3786	E9PQG7;Q03164	.;MLL1_HUMAN	C	3789;3786;3748;2696	ENSP00000436786:R3789C;ENSP00000374157:R3786C;ENSP00000346516:R3748C	ENSP00000346516:R3748C	R	+	1	0	MLL	117895925	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.787000	0.55439	2.786000	0.95864	0.563000	0.77884	CGT	MLL	-	pirsf_MeTrfase_trithorax		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118390715	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118390715	C	T	118390715	3	4	117	1	0	0	0	0	1	0	0	0	9643	884	31	1	11486	1	MLL	11	118390715	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	14501	118390715	16615801	770	18238										
NLRX1	79671	genome.wustl.edu	37	chr11	119050945	119050945	+	Missense_Mutation	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggcctcctgccagctagatCctgctgggctgcgcacactc					rs45562142		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:119050945C>T	ENST00000409109.1	+	7	2802	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	NLRX1_ENST00000409991.1_Missense_Mutation_p.P739S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P739S|NLRX1_ENST00000525863.1_Missense_Mutation_p.P739S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P739S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	739	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGCTAGATCCTGCTGGGCT	0.612																																																	0													42	40	40					11																	119050945		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2215C>T	11.37:g.119050945C>T	ENSP00000387334:p.Pro739Ser		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P739S	ENST00000409109.1	37	c.2215	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	1.637	-0.517578	0.04171	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.17	3.22	0.36961	.	0.476561	0.22172	N	0.063632	T	0.30634	0.0771	L	0.29908	0.895	0.09310	N	1	B;B	0.19583	0.037;0.025	B;B	0.21151	0.033;0.008	T	0.22068	-1.0227	10	0.08179	T	0.78	.	9.8855	0.41260	0.2349:0.4512:0.3139:0.0	rs45562142	739;739	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	739	ENSP00000386851:P739S;ENSP00000292199:P739S;ENSP00000386858:P739S;ENSP00000387334:P739S;ENSP00000433442:P739S	ENSP00000292199:P739S	P	+	1	0	NLRX1	118556155	0.000000	0.05858	0.451000	0.26982	0.243000	0.25628	0.467000	0.22035	0.525000	0.28522	0.313000	0.20887	CCT	NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119050945	1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	0.030	T	T	119050945	C	T	119050945	3	4	117	1	0	0	0	0	1	0	0	0	10509	855	30	1	2237	1	NLRX1	11	119050945	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	660230	119050945	15955571	771	18239	101	2								
NLRX1	79671	genome.wustl.edu	37	chr11	119050953	119050953	+	Silent	SNP	G	G	C													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgccagctagatcctgctggGctgcgcacactcctgcctgt							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:119050953G>C	ENST00000409109.1	+	7	2810	c.2223G>C	c.(2221-2223)ggG>ggC	p.G741G	NLRX1_ENST00000409991.1_Silent_p.G741G|NLRX1_ENST00000292199.2_Silent_p.G741G|NLRX1_ENST00000525863.1_Silent_p.G741G|NLRX1_ENST00000409265.4_Silent_p.G741G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	741	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCCTGCTGGGCTGCGCACAC	0.607																																																	0													37	36	36					11																	119050953		2199	4292	6491	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2223G>C	11.37:g.119050953G>C			A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G741	ENST00000409109.1	37	c.2223	CCDS8416.1	11																																																																																			NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	G	NM_170722		119050953	1	no_errors	ENST00000292199	ensembl	human	known	70_37	silent	SNP	0.703	C	C	119050953	G	C	119050953	2	2	117	1	0	0	0	0	0	0	0	1	10509	1190	42	4		4	NLRX1	11	119050953	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8	119050953	15955563	772	18240	101	2								
NLRX1	79671	genome.wustl.edu	37	chr11	119052817	119052817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtaggctgtccaacaaccCgctgacggcggcaggtgttg	14	12	0	1	rs569295450		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:119052817C>T	ENST00000409109.1	+	9	2956	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	NLRX1_ENST00000409991.1_Missense_Mutation_p.P790L|NLRX1_ENST00000292199.2_Missense_Mutation_p.P790L|NLRX1_ENST00000525863.1_Missense_Mutation_p.P790L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P790L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	790	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCAACAACCCGCTGACGGCG	0.622																																																	0													135	128	130					11																	119052817		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2369C>T	11.37:g.119052817C>T	ENSP00000387334:p.Pro790Leu		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P790L	ENST00000409109.1	37	c.2369	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459134	0.43634	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.78	4.78	0.61160	.	0.069630	0.64402	D	0.000017	T	0.58409	0.2120	L	0.29908	0.895	0.52099	D	0.999949	D;D	0.89917	1.0;0.999	D;P	0.91635	0.999;0.872	T	0.59595	-0.7425	10	0.46703	T	0.11	.	18.0036	0.89203	0.0:1.0:0.0:0.0	.	790;790	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	790	ENSP00000386851:P790L;ENSP00000292199:P790L;ENSP00000386858:P790L;ENSP00000387334:P790L;ENSP00000433442:P790L	ENSP00000292199:P790L	P	+	2	0	NLRX1	118558027	0.999000	0.42202	0.963000	0.40424	0.191000	0.23601	4.259000	0.58828	2.493000	0.84123	0.609000	0.83330	CCG	NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.622	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119052817	1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	0.997	T	T	119052817	C	T	119052817	3	4	117	1	0	0	0	0	1	0	0	0	10509	652	23	2	2399	2	NLRX1	11	119052817	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1864	119052817	15953699	773	18241										
SORL1	6653	genome.wustl.edu	37	chr11	121384885	121384885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attacatcgcagatgcctccGaggaccaggtgtttgtgtgt	12	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:121384885G>A	ENST00000260197.7	+	8	1195	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	356					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATGCCTCCGAGGACCAGGT	0.458																																																	0													112	107	109					11																	121384885		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1066G>A	11.37:g.121384885G>A	ENSP00000260197:p.Glu356Lys		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E356K	ENST00000260197.7	37	c.1066	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.555786	0.96514	.	.	ENSG00000137642	ENST00000260197	T	0.22134	1.97	5.66	5.66	0.87406	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.58945	-0.7546	10	0.54805	T	0.06	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	356	Q92673	SORL_HUMAN	K	356	ENSP00000260197:E356K	ENSP00000260197:E356K	E	+	1	0	SORL1	120890095	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	9.827000	0.99397	2.666000	0.90696	0.655000	0.94253	GAG	SORL1	-	smart_VPS10		0.458	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121384885	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121384885	G	A	121384885	3	1	117	1	0	0	0	0	1	0	0	0	14964	1059	37	1	1096	1	SORL1	11	121384885	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2332068	121384885	13621631	774	18242										
OR8D1	283159	genome.wustl.edu	37	chr11	124180503	124180503	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtacatgggggtgtgaagtaGagggctgactgcaatcagga	17	5	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:124180503G>C	ENST00000357821.2	-	1	230	c.160C>G	c.(160-162)Cta>Gta	p.L54V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTGTGAAGTAGAGGGCTGACT	0.512																																																	0													100	94	96					11																	124180503		2201	4299	6500	SO:0001583	missense	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.160C>G	11.37:g.124180503G>C	ENSP00000350474:p.Leu54Val		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L54V	ENST00000357821.2	37	c.160	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	g	12.39	1.924173	0.34002	.	.	ENSG00000196341	ENST00000357821	T	0.01084	5.36	4.29	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.277119	0.18667	U	0.134577	T	0.00906	0.0030	N	0.19112	0.55	0.09310	N	1	B	0.23128	0.08	B	0.23275	0.045	T	0.49293	-0.8955	10	0.87932	D	0	.	3.8219	0.08839	0.0876:0.1457:0.5608:0.2059	.	54	Q8WZ84	OR8D1_HUMAN	V	54	ENSP00000350474:L54V	ENSP00000350474:L54V	L	-	1	2	OR8D1	123685713	0.000000	0.05858	0.001000	0.08648	0.602000	0.36980	-0.173000	0.09854	0.324000	0.23333	0.508000	0.49915	CTA	OR8D1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	G	NM_001002917		124180503	-1	no_errors	ENST00000357821	ensembl	human	known	70_37	missense	SNP	0.000	C	C	124180503	G	C	124180503	3	2	117	1	0	0	0	0	1	0	0	0	11255	933	33	1	769	1	OR8D1	11	124180503	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2795618	124180503	10826013	775	18243										
OR8B8	26493	genome.wustl.edu	37	chr11	124310324	124310324	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagatgctggagagaatgaGagcataggaaatgaagatgg	16	2	0	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:124310324G>C	ENST00000328064.2	-	1	730	c.658C>G	c.(658-660)Ctc>Gtc	p.L220V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	220					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGAGAATGAGAGCATAGGAA	0.483																																																	0													182	158	166					11																	124310324		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.658C>G	11.37:g.124310324G>C	ENSP00000330280:p.Leu220Val		A1L446|Q96RC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L220V	ENST00000328064.2	37	c.658	CCDS8446.1	11	.	.	.	.	.	.	.	.	.	.	G	6.261	0.416234	0.11870	.	.	ENSG00000197125	ENST00000328064	T	0.00130	8.69	3.67	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.674219	0.11903	N	0.518472	T	0.00144	0.0004	L	0.28115	0.83	0.24187	N	0.995561	B	0.17268	0.021	B	0.27170	0.077	T	0.23655	-1.0182	10	0.72032	D	0.01	.	7.552	0.27802	0.0934:0.1677:0.7388:0.0	.	220	Q15620	OR8B8_HUMAN	V	220	ENSP00000330280:L220V	ENSP00000330280:L220V	L	-	1	0	OR8B8	123815534	0.000000	0.05858	0.999000	0.59377	0.293000	0.27360	-0.344000	0.07780	1.115000	0.41800	0.557000	0.71058	CTC	OR8B8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	G	NM_012378		124310324	-1	no_errors	ENST00000328064	ensembl	human	putative	70_37	missense	SNP	0.719	C	C	124310324	G	C	124310324	3	2	117	1	0	0	0	0	1	0	0	0	11254	942	33	1	280	1	OR8B8	11	124310324	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	129821	124310324	10696192	776	18244										
KIRREL3	84623	genome.wustl.edu	37	chr11	126316661	126316661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgcagcctcaccactccgGagccccgcttcatccagacg	9	19	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:126316661G>C	ENST00000525144.2	-	9	1367	c.1118C>G	c.(1117-1119)tCc>tGc	p.S373C	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S373C|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S373C	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	373	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CACCACTCCGGAGCCCCGCTT	0.632																																																	0													24	27	26					11																	126316661		2006	4157	6163	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1118C>G	11.37:g.126316661G>C	ENSP00000435466:p.Ser373Cys		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S373C	ENST00000525144.2	37	c.1118	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187299	0.57909	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.70164	-0.46;-0.46;-0.46	4.77	4.77	0.60923	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	0.999;0.992;1.0	D;P;D	0.76071	0.935;0.873;0.987	D	0.86445	0.1769	10	0.87932	D	0	.	17.3848	0.87413	0.0:0.0:1.0:0.0	.	373;373;373	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	C	373	ENSP00000435466:S373C;ENSP00000434081:S373C;ENSP00000435094:S373C	ENSP00000435466:S373C	S	-	2	0	KIRREL3	125821871	1.000000	0.71417	0.784000	0.31847	0.148000	0.21650	9.828000	0.99408	2.188000	0.69820	0.297000	0.19635	TCC	KIRREL3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.632	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	G	NM_032531		126316661	-1	no_errors	ENST00000525144	ensembl	human	known	70_37	missense	SNP	1.000	C	C	126316661	G	C	126316661	3	2	117	1	0	0	0	0	1	0	0	0	8346	1174	41	1	1361	1	KIRREL3	11	126316661	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2006337	126316661	8689855	777	18245										
THYN1	29087	genome.wustl.edu	37	chr11	134118818	134118818	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgagctcagccaggggaatGaaacgtttcatcatccgaac	10	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:134118818G>A	ENST00000341541.3	-	6	977	c.516C>T	c.(514-516)ttC>ttT	p.F172F	THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000392594.3_Silent_p.F172F|THYN1_ENST00000392595.2_Silent_p.F172F|THYN1_ENST00000352327.5_Intron	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	172						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CCAGGGGAATGAAACGTTTCA	0.438																																																	0													127	122	124					11																	134118818		2201	4297	6498	SO:0001819	synonymous_variant	29087			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.516C>T	11.37:g.134118818G>A			Q567Q2|Q9H3L4|Q9HC20	Silent	SNP	pfam_EVE_domain,superfamily_PUA-like_domain	p.F172	ENST00000341541.3	37	c.516	CCDS8496.1	11																																																																																			THYN1	-	pfam_EVE_domain,superfamily_PUA-like_domain		0.438	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	G	NM_014174		134118818	-1	no_errors	ENST00000341541	ensembl	human	known	70_37	silent	SNP	1.000	A	A	134118818	G	A	134118818	2	1	117	1	0	0	0	0	0	0	0	1	15916	1281	45	1		1	THYN1	11	134118818	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7802157	134118818	887698	778	18246										
EFCAB4B	84766	genome.wustl.edu	37	chr12	3763514	3763514	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagtttcagcttggtattctCagccttggtctcatgcttgt	10	9	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:3763514C>A	ENST00000252322.1	-	10	1378	c.910G>T	c.(910-912)Gag>Tag	p.E304*	EFCAB4B_ENST00000440314.2_Nonsense_Mutation_p.E304*|EFCAB4B_ENST00000444507.1_Nonsense_Mutation_p.E304*	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		304					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGTATTCTCAGCCTTGGTC	0.562																																																	0													70	63	66					12																	3763514		2203	4300	6503	SO:0001587	stop_gained	84766																														ENST00000252322.1:c.910G>T	12.37:g.3763514C>A	ENSP00000252322:p.Glu304*		B4E1X0|B9EK63	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.E304*	ENST00000252322.1	37	c.910	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.811659	0.96975	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.5131	14.2367	0.65932	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000252322:E304X	E	-	1	0	EFCAB4B	3633775	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	5.142000	0.64820	2.206000	0.71126	0.455000	0.32223	GAG	EFCAB4B	-	NULL		0.562	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	C			3763514	-1	no_errors	ENST00000440314	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3763514	C	A	3763514	4	1	117	1	0	0	0	0	0	1	0	0	4947	835	29	3	1521	3	EFCAB4B	12	3763514	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		3763514	130088381	779	18247										
C12orf53	196500	genome.wustl.edu	37	chr12	6804739	6804739	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagccggggacaggtctgtCagtggctgctggctctcctc	14	14	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:6804739C>G	ENST00000540656.1	-	5	1022	c.684G>C	c.(682-684)ctG>ctC	p.L228L	PIANP_ENST00000534837.1_Silent_p.L228L|PIANP_ENST00000320591.5_Silent_p.L228L	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	228						integral component of membrane (GO:0016021)		p.L228L(1)									ACAGGTCTGTCAGTGGCTGCT	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											39	42	41					12																	6804739		2006	4162	6168	SO:0001819	synonymous_variant	196500			BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"PILR-associating neural protein"		"chromosome 12 open reading frame 53"	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.684G>C	12.37:g.6804739C>G			A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	NULL	p.L228	ENST00000540656.1	37	c.684	CCDS44818.1	12																																																																																			PIANP	-	NULL		0.682	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PIANP	HGNC	protein_coding	OTTHUMT00000400524.1	C	NM_153685		6804739	-1	no_errors	ENST00000320591	ensembl	human	known	70_37	silent	SNP	1.000	G	G	6804739	C	G	6804739	2	3	117	1	0	0	0	0	0	0	0	1	1702	813	29	1		1	C12orf53	12	6804739	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3041225	6804739	127047156	780	18248										
GPR162	27239	genome.wustl.edu	37	chr12	6933901	6933901	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcagcgccatcgtctttctCtatgactcactcacaggggt	9	13	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:6933901C>G	ENST00000311268.3	+	2	1624	c.837C>G	c.(835-837)ctC>ctG	p.L279L	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGTCTTTCTCTATGACTCAC	0.602																																																	0													56	57	57					12																	6933901		2203	4300	6503	SO:0001819	synonymous_variant	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.837C>G	12.37:g.6933901C>G			Q16664|Q59EH5|Q66K56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_162,prints_GPCR_153/162	p.L279	ENST00000311268.3	37	c.837	CCDS8563.1	12																																																																																			GPR162	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR162	HGNC	protein_coding	OTTHUMT00000399478.1	C	NM_019858		6933901	1	no_errors	ENST00000311268	ensembl	human	known	70_37	silent	SNP	1.000	G	G	6933901	C	G	6933901	2	3	117	1	0	0	0	0	0	0	0	1	6685	900	32	1		1	GPR162	12	6933901	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	129162	6933901	126917994	781	18249										
C1R	715	genome.wustl.edu	37	chr12	7187958	7187958	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcccgtggccacccagcgatCagtgttcgggtcccttactg	12	15	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:7187958C>A	ENST00000542285.1	-	11	1989	c.1840G>T	c.(1840-1842)Gat>Tat	p.D614Y				P00736	C1R_HUMAN	complement component 1, r subcomponent	666	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCCAGCGATCAGTGTTCGGG	0.567																																																	0													62	69	67					12																	7187958		2107	4254	6361	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1840G>T	12.37:g.7187958C>A	ENSP00000438615:p.Asp614Tyr		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D629Y	ENST00000542285.1	37	c.1885		12	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202897	0.38905	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.46819	0.86	5.7	4.81	0.61882	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.150448	0.45361	D	0.000367	T	0.59756	0.2217	.	.	.	0.20563	N	0.999886	D	0.60575	0.988	P	0.59424	0.857	T	0.55418	-0.8144	9	0.66056	D	0.02	.	9.311	0.37905	0.0:0.7791:0.1448:0.0761	.	666	P00736	C1R_HUMAN	Y	629;614	ENSP00000438615:D614Y	ENSP00000290575:D629Y	D	-	1	0	C1R	7058213	0.000000	0.05858	0.603000	0.28903	0.270000	0.26580	-0.147000	0.10234	1.397000	0.46682	0.655000	0.94253	GAT	C1R	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		C	NM_001733		7187958	-1	no_errors	ENST00000290575	ensembl	human	known	70_37	missense	SNP	0.182	A	A	7187958	C	A	7187958	3	1	117	1	0	0	0	0	1	0	0	0	1977	826	29	3	125	3	C1R	12	7187958	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	254057	7187958	126663937	782	18250										
C1RL	51279	genome.wustl.edu	37	chr12	7249310	7249310	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtagttagccagcccatctCcatgccaaacccactgacgt	7	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:7249310C>G	ENST00000266542.4	-	6	1233	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	381	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCCCATCTCCATGCCAAAC	0.612																																																	0													81	75	77					12																	7249310		2203	4300	6503	SO:0001583	missense	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1141G>C	12.37:g.7249310C>G	ENSP00000266542:p.Glu381Gln		Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E381Q	ENST00000266542.4	37	c.1141	CCDS8573.1	12	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688782	0.29962	.	.	ENSG00000139178	ENST00000266542;ENST00000396661	T	0.41758	0.99	4.98	3.09	0.35607	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.524166	0.19880	N	0.103994	T	0.31482	0.0798	N	0.21282	0.65	0.80722	D	1	B	0.24092	0.097	B	0.30572	0.117	T	0.04579	-1.0941	10	0.24483	T	0.36	.	14.2308	0.65890	0.0:0.7151:0.2849:0.0	.	381	Q9NZP8	C1RL_HUMAN	Q	381	ENSP00000266542:E381Q	ENSP00000266542:E381Q	E	-	1	0	C1RL	7140452	0.894000	0.30519	0.797000	0.32132	0.498000	0.33706	0.860000	0.27871	0.643000	0.30638	0.511000	0.50034	GAG	C1RL	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.612	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	C	NM_016546		7249310	-1	no_errors	ENST00000266542	ensembl	human	known	70_37	missense	SNP	0.994	G	G	7249310	C	G	7249310	3	3	117	1	0	0	0	0	1	0	0	0	1978	864	30	1	326	1	C1RL	12	7249310	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	61352	7249310	126602585	783	18251										
PZP	5858	genome.wustl.edu	37	chr12	9322060	9322060	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaatatctgcttcattacttGataagggaacatagatggct	8	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:9322060G>C	ENST00000261336.2	-	16	1995	c.1967C>G	c.(1966-1968)tCa>tGa	p.S656*	PZP_ENST00000381997.2_Nonsense_Mutation_p.S525*|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	656					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCATTACTTGATAAGGGAAC	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)												0													85	79	81					12																	9322060		2203	4300	6503	SO:0001587	stop_gained	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1967C>G	12.37:g.9322060G>C	ENSP00000261336:p.Ser656*		A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S656*	ENST00000261336.2	37	c.1967	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576794	0.65878	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.34	-0.217	0.13149	.	2.551900	0.02108	U	0.054534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	2.5138	0.04663	0.2536:0.0:0.3376:0.4088	.	.	.	.	X	656;525	.	ENSP00000261336:S656X	S	-	2	0	PZP	9213327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.283000	0.08433	0.164000	0.19529	0.563000	0.77884	TCA	PZP	-	NULL		0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	G	NM_002864		9322060	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	9322060	G	C	9322060	4	2	117	1	0	0	0	0	0	1	0	0	12899	1294	45	1	2565	1	PZP	12	9322060	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2072750	9322060	124529835	784	18252										
TAS2R42	353164	genome.wustl.edu	37	chr12	11338902	11338902	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagcccaaggaactgagcttCaaatttctagtatgtctcac	8	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:11338902C>T	ENST00000334266.1	-	1	641	c.642G>A	c.(640-642)ttG>ttA	p.L214L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	214					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AACTGAGCTTCAAATTTCTAG	0.413																																					Melanoma(15;352 722 10077 19546 48810)												0													59	63	62					12																	11338902		2202	4300	6502	SO:0001819	synonymous_variant	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.642G>A	12.37:g.11338902C>T			A2RRP4|Q645X0	Silent	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L214	ENST00000334266.1	37	c.642	CCDS31747.1	12																																																																																			TAS2R42	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.413	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R42	HGNC	protein_coding	OTTHUMT00000400243.1	C	NM_181429		11338902	-1	no_errors	ENST00000334266	ensembl	human	known	70_37	silent	SNP	0.032	T	T	11338902	C	T	11338902	2	4	117	1	0	0	0	0	0	0	0	1	15610	825	29	1		1	TAS2R42	12	11338902	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2016842	11338902	122512993	785	18253										
PRB2	653247	genome.wustl.edu	37	chr12	11545880	11545880	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgctggaggtgggggaccttGaggattgttgccttcttgtt	16	6	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:11545880G>A	ENST00000389362.4	-	3	1167	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	378						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGATTGTTG	0.642																																																	0													72	81	78					12																	11545880		2201	4288	6489	SO:0001587	stop_gained	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1132C>T	12.37:g.11545880G>A	ENSP00000374013:p.Gln378*		O00599|P02811|P04281	Nonsense_Mutation	SNP	NULL	p.Q378*	ENST00000389362.4	37	c.1132	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	13.96	2.393311	0.42410	.	.	ENSG00000121335	ENST00000389362	.	.	.	1.38	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.27029	A	0.0357183	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.7348	0.34521	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000374013:Q378X	Q	-	1	0	PRB2	11437147	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.043000	0.30316	0.662000	0.31006	0.400000	0.26472	CAA	PRB2	-	NULL		0.642	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	G	NM_006248		11545880	-1	no_errors	ENST00000389362	ensembl	human	known	70_37	nonsense	SNP	0.030	A	A	11545880	G	A	11545880	4	1	117	1	0	0	0	0	0	1	0	0	12470	1299	45	1	122	1	PRB2	12	11545880	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	206978	11545880	122306015	786	18254										
PTPRO	5800	genome.wustl.edu	37	chr12	15637046	15637046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaattatttcttcgaatttGaggaattcaacagcactttg	6	6	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:15637046G>C	ENST00000281171.4	+	2	544	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	PTPRO_ENST00000543886.1_Missense_Mutation_p.E72Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E72Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	72	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTTCGAATTTGAGGAATTCAA	0.378																																																	0													98	97	97					12																	15637046		2203	4300	6503	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.214G>C	12.37:g.15637046G>C	ENSP00000281171:p.Glu72Gln		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E72Q	ENST00000281171.4	37	c.214	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786888	0.49997	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03889	3.78;3.77	5.48	5.48	0.80851	Fibronectin, type III (1);	0.000000	0.52532	D	0.000075	T	0.05868	0.0153	N	0.14661	0.345	0.80722	D	1	B;B;P	0.45044	0.029;0.017;0.849	B;B;P	0.45377	0.022;0.01;0.478	T	0.54390	-0.8301	10	0.33141	T	0.24	.	19.3636	0.94453	0.0:0.0:1.0:0.0	.	72;72;72	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	Q	72	ENSP00000281171:E72Q;ENSP00000343434:E72Q	ENSP00000281171:E72Q	E	+	1	0	PTPRO	15528313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.376000	0.59556	2.573000	0.86826	0.655000	0.94253	GAG	PTPRO	-	superfamily_Fibronectin_type3		0.378	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	G			15637046	1	no_errors	ENST00000281171	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15637046	G	C	15637046	3	2	117	1	0	0	0	0	1	0	0	0	12839	1291	45	1	220	1	PTPRO	12	15637046	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4091166	15637046	118214849	787	18255										
PTPRO	5800	genome.wustl.edu	37	chr12	15661681	15661681	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaaggagagccagaggcttGaaaagcagtactgcactcag	12	8	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:15661681G>A	ENST00000281171.4	+	7	1774	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	PTPRO_ENST00000543886.1_Missense_Mutation_p.E482K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E482K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	482	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.E482K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCAGAGGCTTGAAAAGCAGTA	0.507																																																	1	Substitution - Missense(1)	skin(1)											59	59	59					12																	15661681		2203	4300	6503	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1444G>A	12.37:g.15661681G>A	ENSP00000281171:p.Glu482Lys		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E482K	ENST00000281171.4	37	c.1444	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.532074	0.96446	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.57595	0.39;0.39;0.39	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000064	T	0.63780	0.2540	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.973;0.984;0.996	T	0.57883	-0.7734	10	0.30078	T	0.28	.	19.3083	0.94173	0.0:0.0:1.0:0.0	.	482;482;482	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	K	482	ENSP00000281171:E482K;ENSP00000444173:E482K;ENSP00000343434:E482K	ENSP00000281171:E482K	E	+	1	0	PTPRO	15552948	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.973000	0.93428	2.797000	0.96272	0.609000	0.83330	GAA	PTPRO	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	G			15661681	1	no_errors	ENST00000281171	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15661681	G	A	15661681	3	1	117	1	0	0	0	0	1	0	0	0	12839	1291	45	1	1470	1	PTPRO	12	15661681	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	24635	15661681	118190214	788	18256										
EPS8	2059	genome.wustl.edu	37	chr12	15793665	15793665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatgagtataaggtggatcaGcacgccccaatccagattct	9	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:15793665G>A	ENST00000281172.5	-	17	2229	c.1793C>T	c.(1792-1794)gCt>gTt	p.A598V	EPS8_ENST00000543612.1_Missense_Mutation_p.A598V|EPS8_ENST00000543523.1_Missense_Mutation_p.A598V|EPS8_ENST00000542903.1_Missense_Mutation_p.A338V|EPS8_ENST00000540613.1_Missense_Mutation_p.A338V	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	598					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGTGGATCAGCACGCCCCAA	0.378																																																	0													110	96	101					12																	15793665		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1793C>T	12.37:g.15793665G>A	ENSP00000281172:p.Ala598Val		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.A598V	ENST00000281172.5	37	c.1793	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444221	0.43429	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.59	4.59	0.56863	Src homology-3 domain (1);	0.824694	0.11378	N	0.570091	T	0.18882	0.0453	L	0.42245	1.32	0.31152	N	0.705336	B	0.06786	0.001	B	0.12156	0.007	T	0.05273	-1.0895	10	0.22109	T	0.4	-7.5524	10.5892	0.45300	0.092:0.0:0.908:0.0	.	598	Q12929	EPS8_HUMAN	V	598;598;598;338;338;598	ENSP00000441867:A598V;ENSP00000281172:A598V;ENSP00000442388:A598V;ENSP00000441888:A338V;ENSP00000437806:A338V	ENSP00000281172:A598V	A	-	2	0	EPS8	15684932	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.203000	0.65174	2.540000	0.85666	0.655000	0.94253	GCT	EPS8	-	superfamily_SH3_domain		0.378	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	G			15793665	-1	no_errors	ENST00000281172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15793665	G	A	15793665	3	1	117	1	0	0	0	0	1	0	0	0	5206	971	34	4	695	4	EPS8	12	15793665	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	131984	15793665	118058230	789	18257										
PDE3A	5139	genome.wustl.edu	37	chr12	20799728	20799728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggacatatgggatatgtattCtcaaaaacgtataatgtgac	9	5	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:20799728C>G	ENST00000359062.3	+	12	2449	c.2409C>G	c.(2407-2409)ttC>ttG	p.F803L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	803	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GATATGTATTCTCAAAAACGT	0.393																																																	0													140	133	135					12																	20799728		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2409C>G	12.37:g.20799728C>G	ENSP00000351957:p.Phe803Leu		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.F803L	ENST00000359062.3	37	c.2409	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	8.379	0.837137	0.16891	.	.	ENSG00000172572	ENST00000359062	T	0.74947	-0.89	5.84	2.32	0.28847	Metal-dependent phosphohydrolase, HD domain (1);	0.192653	0.49916	D	0.000127	T	0.46288	0.1385	N	0.08118	0	0.38142	D	0.938473	B	0.17465	0.022	B	0.15870	0.014	T	0.24012	-1.0172	10	0.09843	T	0.71	.	6.0381	0.19718	0.0:0.4897:0.1399:0.3704	.	803	Q14432	PDE3A_HUMAN	L	803	ENSP00000351957:F803L	ENSP00000351957:F803L	F	+	3	2	PDE3A	20690995	0.352000	0.24895	1.000000	0.80357	0.996000	0.88848	-0.462000	0.06704	0.671000	0.31185	0.637000	0.83480	TTC	PDE3A	-	smart_HD/PDEase_dom		0.393	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20799728	1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	0.896	G	G	20799728	C	G	20799728	3	3	117	1	0	0	0	0	1	0	0	0	11661	912	32	1	2455	1	PDE3A	12	20799728	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5006063	20799728	113052167	790	18258										
ITPR2	3709	genome.wustl.edu	37	chr12	26752981	26752981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttgattctgtggatttcctCgacagaaattctgcagaaat	8	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:26752981C>T	ENST00000381340.3	-	29	4156	c.3740G>A	c.(3739-3741)cGa>cAa	p.R1247Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1247					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGGATTTCCTCGACAGAAATT	0.318																																																	0													107	102	103					12																	26752981		1838	4072	5910	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3740G>A	12.37:g.26752981C>T	ENSP00000370744:p.Arg1247Gln		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.R1247Q	ENST00000381340.3	37	c.3740	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311883	0.23821	.	.	ENSG00000123104	ENST00000381340	T	0.65178	-0.14	4.24	3.26	0.37387	Intracellular calcium-release channel (1);	0.260564	0.38217	N	0.001766	T	0.47525	0.1450	L	0.32530	0.975	0.58432	D	0.999991	P	0.44429	0.835	B	0.39771	0.309	T	0.40869	-0.9540	10	0.16420	T	0.52	.	13.5397	0.61666	0.0:0.732:0.268:0.0	.	1247	Q14571	ITPR2_HUMAN	Q	1247	ENSP00000370744:R1247Q	ENSP00000370744:R1247Q	R	-	2	0	ITPR2	26644248	0.371000	0.25056	0.985000	0.45067	0.995000	0.86356	1.683000	0.37638	2.365000	0.80145	0.650000	0.86243	CGA	ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold		0.318	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	C	NM_002223		26752981	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	0.791	T	T	26752981	C	T	26752981	3	4	117	1	0	0	0	0	1	0	0	0	7941	884	31	1	4481	1	ITPR2	12	26752981	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5953253	26752981	107098914	791	18259										
STK38L	23012	genome.wustl.edu	37	chr12	27467972	27467972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgtaaaattatctgattttGgtttatgtacgggattaaag	9	2	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:27467972G>C	ENST00000389032.3	+	8	866	c.697G>C	c.(697-699)Ggt>Cgt	p.G233R	STK38L_ENST00000539577.1_Missense_Mutation_p.G140R	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ATCTGATTTTGGTTTATGTAC	0.303																																																	0													76	79	78					12																	27467972		2203	4300	6503	SO:0001583	missense	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.697G>C	12.37:g.27467972G>C	ENSP00000373684:p.Gly233Arg			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.G233R	ENST00000389032.3	37	c.697	CCDS31761.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954761	0.92726	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	T;T;T	0.80123	0.09;-1.34;-1.34	4.32	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054509	0.64402	D	0.000001	D	0.92612	0.7653	H	0.96239	3.79	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.66497	0.923;0.944	D	0.95072	0.8205	10	0.87932	D	0	.	17.3732	0.87384	0.0:0.0:1.0:0.0	.	140;233	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	R	233;192;140	ENSP00000373684:G233R;ENSP00000439457:G192R;ENSP00000446386:G140R	ENSP00000373684:G233R	G	+	1	0	STK38L	27359239	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.548000	0.98103	2.409000	0.81822	0.655000	0.94253	GGT	STK38L	-	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		0.303	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	G	NM_015000		27467972	1	no_errors	ENST00000389032	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27467972	G	C	27467972	3	2	117	1	0	0	0	0	1	0	0	0	15334	1348	47	4	723	4	STK38L	12	27467972	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	714991	27467972	106383923	792	18260										
KLHDC5	57542	genome.wustl.edu	37	chr12	27933812	27933812	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggatgtcagcctgaagcaGaggctgagggaggcccggat	19	8	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:27933812G>C	ENST00000381271.2	+	1	860	c.549G>C	c.(547-549)caG>caC	p.Q183H	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	183					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GCCTGAAGCAGAGGCTGAGGG	0.677																																																	0													29	32	31					12																	27933812		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.549G>C	12.37:g.27933812G>C	ENSP00000370671:p.Gln183His		Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q183H	ENST00000381271.2	37	c.549	CCDS31763.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.711068|3.711068	0.68730|0.68730	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000543254|ENST00000381271	.|T	.|0.74526	.|-0.85	4.77|4.77	3.87|3.87	0.44632|0.44632	.|.	.|0.358280	.|0.29218	.|N	.|0.012790	T|T	0.69070|0.69070	0.3070|0.3070	N|N	0.19112|0.19112	0.55|0.55	0.37389|0.37389	D|D	0.912354|0.912354	.|P	.|0.50943	.|0.94	.|P	.|0.52710	.|0.707	T|T	0.73241|0.73241	-0.4045|-0.4045	5|10	.|0.42905	.|T	.|0.14	.|.	12.3438|12.3438	0.55109|0.55109	0.0815:0.0:0.9185:0.0|0.0815:0.0:0.9185:0.0	.|.	.|183	.|Q9P2K6	.|KLDC5_HUMAN	Q|H	5|183	.|ENSP00000370671:Q183H	.|ENSP00000370671:Q183H	E|Q	+|+	1|3	0|2	KLHDC5|KLHDC5	27825079|27825079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.690000|3.690000	0.54713|0.54713	1.225000|1.225000	0.43566|0.43566	0.591000|0.591000	0.81541|0.81541	GAG|CAG	KLHDC5	-	NULL		0.677	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	G	NM_020782		27933812	1	no_errors	ENST00000381271	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27933812	G	C	27933812	3	2	117	1	0	0	0	0	1	0	0	0	8379	933	33	1	551	1	KLHDC5	12	27933812	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	465840	27933812	105918083	793	18261										
IPO8	10526	genome.wustl.edu	37	chr12	30792516	30792516	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtgataggtccagggttgtGaggcaactgaattcgttcta	13	6	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:30792516G>T	ENST00000256079.4	-	21	2760	c.2422C>A	c.(2422-2424)Cac>Aac	p.H808N	IPO8_ENST00000544829.1_Missense_Mutation_p.H603N	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	808					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.H808Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCAGGGTTGTGAGGCAACTGA	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											174	160	165					12																	30792516		2203	4300	6503	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2422C>A	12.37:g.30792516G>T	ENSP00000256079:p.His808Asn		B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.H808N	ENST00000256079.4	37	c.2422	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	G	4.020	0.001121	0.07819	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.40476	1.03;1.03	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.049474	0.85682	D	0.000000	T	0.40222	0.1108	N	0.05351	-0.065	0.51012	D	0.999909	B;D;B	0.69078	0.001;0.997;0.001	B;D;B	0.71414	0.004;0.973;0.001	T	0.17289	-1.0374	10	0.02654	T	1	-14.889	18.3649	0.90388	0.0:0.0:1.0:0.0	.	603;284;808	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	N	808;284;603	ENSP00000256079:H808N;ENSP00000444520:H603N	ENSP00000256079:H808N	H	-	1	0	IPO8	30683783	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	2.292000	0.43549	2.348000	0.79779	0.557000	0.71058	CAC	IPO8	-	superfamily_ARM-type_fold		0.388	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	G	NM_006390		30792516	-1	no_errors	ENST00000256079	ensembl	human	known	70_37	missense	SNP	0.998	T	T	30792516	G	T	30792516	3	4	117	1	0	0	0	0	1	0	0	0	7818	1290	45	3	711	3	IPO8	12	30792516	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2858704	30792516	103059379	794	18262										
IPO8	10526	genome.wustl.edu	37	chr12	30826980	30826980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcagaaaattcaaagtattCttttgtgacatttcctgggc	7	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:30826980C>G	ENST00000256079.4	-	8	1191	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	IPO8_ENST00000544829.1_Missense_Mutation_p.E80Q	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	285					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGTATTCTTTTGTGACA	0.294																																																	0													44	47	46					12																	30826980		2202	4294	6496	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.853G>C	12.37:g.30826980C>G	ENSP00000256079:p.Glu285Gln		B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E285Q	ENST00000256079.4	37	c.853	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805081	0.90623	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T	0.52295	1.71;0.67	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048728	0.85682	D	0.000000	T	0.64560	0.2609	M	0.75777	2.31	0.80722	D	1	P;P	0.51240	0.943;0.885	P;P	0.57548	0.823;0.771	T	0.64183	-0.6467	10	0.35671	T	0.21	-22.565	17.9712	0.89113	0.0:1.0:0.0:0.0	.	80;285	B7Z7M3;O15397	.;IPO8_HUMAN	Q	285;80;99	ENSP00000256079:E285Q;ENSP00000444520:E80Q	ENSP00000256079:E285Q	E	-	1	0	IPO8	30718247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.541000	0.85698	0.655000	0.94253	GAA	IPO8	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.294	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	C	NM_006390		30826980	-1	no_errors	ENST00000256079	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30826980	C	G	30826980	3	3	117	1	0	0	0	0	1	0	0	0	7818	922	32	1	2332	1	IPO8	12	30826980	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	34464	30826980	103024915	795	18263										
C12orf35	55196	genome.wustl.edu	37	chr12	32145362	32145362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcttcagtgcagatggatttGagatgctacaaaacccagta	10	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:32145362G>C	ENST00000312561.4	+	6	5551	c.5137G>C	c.(5137-5139)Gag>Cag	p.E1713Q	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1713																	AGATGGATTTGAGATGCTACA	0.363																																																	0													132	147	142					12																	32145362		2203	4300	6503	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5137G>C	12.37:g.32145362G>C	ENSP00000310338:p.Glu1713Gln		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.E1713Q	ENST00000312561.4	37	c.5137	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319404	0.23994	.	.	ENSG00000174718	ENST00000312561	T	0.15256	2.44	5.57	4.49	0.54785	.	0.446516	0.21119	N	0.079845	T	0.32436	0.0829	L	0.50919	1.6	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.03750	-1.1007	10	0.87932	D	0	.	9.8275	0.40921	0.0882:0.1459:0.7659:0.0	.	1713	Q9HCM1	CL035_HUMAN	Q	1713	ENSP00000310338:E1713Q	ENSP00000310338:E1713Q	E	+	1	0	C12orf35	32036629	1.000000	0.71417	0.414000	0.26521	0.023000	0.10783	2.985000	0.49362	2.602000	0.87976	0.655000	0.94253	GAG	KIAA1551	-	NULL		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32145362	1	no_errors	ENST00000312561	ensembl	human	known	70_37	missense	SNP	0.024	C	C	32145362	G	C	32145362	3	2	117	1	0	0	0	0	1	0	0	0	1686	1291	45	1	5147	1	C12orf35	12	32145362	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1318382	32145362	101706533	796	18264										
PKP2	5318	genome.wustl.edu	37	chr12	32945601	32945601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttgtaggcatgatgcagttCcgtgtgtgcccacagagaat	12	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:32945601C>T	ENST00000070846.6	-	13	2578	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	PKP2_ENST00000340811.4_Missense_Mutation_p.E808K	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	852					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGATGCAGTTCCGTGTGTGCC	0.453																																																	0													150	133	139					12																	32945601		2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2554G>A	12.37:g.32945601C>T	ENSP00000070846:p.Glu852Lys		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E852K	ENST00000070846.6	37	c.2554	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211676	0.58452	.	.	ENSG00000057294	ENST00000340811;ENST00000070846	T;T	0.54479	0.57;0.57	5.42	5.42	0.78866	Armadillo-type fold (1);	0.190984	0.44902	D	0.000417	T	0.50326	0.1609	L	0.29908	0.895	0.50313	D	0.999864	P;P;P	0.50943	0.94;0.9;0.9	P;B;B	0.46718	0.525;0.325;0.438	T	0.55522	-0.8128	10	0.72032	D	0.01	-0.1033	18.0024	0.89201	0.0:1.0:0.0:0.0	.	808;808;852	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	K	808;852	ENSP00000342800:E808K;ENSP00000070846:E852K	ENSP00000070846:E852K	E	-	1	0	PKP2	32836868	0.998000	0.40836	0.927000	0.36925	0.184000	0.23303	4.851000	0.62896	2.536000	0.85505	0.655000	0.94253	GAA	PKP2	-	superfamily_ARM-type_fold		0.453	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	C	NM_004572		32945601	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	missense	SNP	0.987	T	T	32945601	C	T	32945601	3	4	117	1	0	0	0	0	1	0	0	0	12009	864	30	1	99	1	PKP2	12	32945601	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	800239	32945601	100906294	797	18265										
PDZRN4	29951	genome.wustl.edu	37	chr12	41961654	41961654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaacttggagatgttggaaGaagagcataatgaagcaatg	12	3	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:41961654G>A	ENST00000402685.2	+	9	1545	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E253K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E255K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	513							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATGTTGGAAGAAGAGCATAA	0.388																																																	0													103	92	95					12																	41961654		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1537G>A	12.37:g.41961654G>A	ENSP00000384197:p.Glu513Lys		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E513K	ENST00000402685.2	37	c.1537	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562828	0.65538	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73152	-0.72;3.74;3.73	4.85	3.96	0.45880	.	0.074022	0.56097	N	0.000040	T	0.68796	0.3040	M	0.73217	2.22	0.58432	D	0.999999	B;B;B	0.28512	0.214;0.012;0.01	B;B;B	0.25291	0.018;0.043;0.059	T	0.70988	-0.4722	10	0.62326	D	0.03	-12.1618	13.6494	0.62301	0.0767:0.0:0.9233:0.0	.	513;253;255	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	513;255;253	ENSP00000384197:E513K;ENSP00000439990:E255K;ENSP00000298919:E253K	ENSP00000298919:E253K	E	+	1	0	PDZRN4	40247921	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	6.476000	0.73587	1.355000	0.45865	0.585000	0.79938	GAA	PDZRN4	-	NULL		0.388	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41961654	1	no_errors	ENST00000402685	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41961654	G	A	41961654	3	1	117	1	0	0	0	0	1	0	0	0	11734	943	33	1	1644	1	PDZRN4	12	41961654	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9016053	41961654	91890241	798	18266										
DHH	50846	genome.wustl.edu	37	chr12	49483753	49483753	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctagcgcgtgcagcagtctCaagggggcaaaagcgcggtg	16	11	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:49483753C>G	ENST00000266991.2	-	3	1386	c.1080G>C	c.(1078-1080)ttG>ttC	p.L360F	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	360					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						GCAGCAGTCTCAAGGGGGCAA	0.677																																																	0													9	11	10					12																	49483753		2194	4284	6478	SO:0001583	missense	50846			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1080G>C	12.37:g.49483753C>G	ENSP00000266991:p.Leu360Phe		Q15794	Missense_Mutation	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.L360F	ENST00000266991.2	37	c.1080	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	c	13.71	2.316993	0.40996	.	.	ENSG00000139549	ENST00000266991	D	0.99369	-5.78	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.260691	0.31323	N	0.007854	D	0.97346	0.9132	L	0.43757	1.38	0.47819	D	0.999524	B	0.22146	0.065	B	0.20384	0.029	D	0.95744	0.8786	10	0.21540	T	0.41	-15.1317	12.2154	0.54404	0.1706:0.8294:0.0:0.0	.	360	O43323	DHH_HUMAN	F	360	ENSP00000266991:L360F	ENSP00000266991:L360F	L	-	3	2	DHH	47770020	0.993000	0.37304	0.999000	0.59377	0.389000	0.30415	0.412000	0.21131	2.654000	0.90174	0.556000	0.70494	TTG	DHH	-	pfam_Hint_dom,pirsf_Hedgehog,prints_Hedgehog		0.677	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	HGNC	protein_coding	OTTHUMT00000408973.1	C	NM_021044		49483753	-1	no_errors	ENST00000266991	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49483753	C	G	49483753	3	3	117	1	0	0	0	0	1	0	0	0	4493	825	29	1	114	1	DHH	12	49483753	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7522099	49483753	84368142	799	18267										
FMNL3	91010	genome.wustl.edu	37	chr12	50059693	50059693	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcaccctcctcctgaacttcTgtaaaaagggtaggaaagga	10	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50059693T>G	ENST00000293590.5	-	4	525		c.e4-2		FMNL3_ENST00000335154.5_Splice_Site|FMNL3_ENST00000352151.5_Splice_Site|FMNL3_ENST00000550488.1_Splice_Site			Q8IVF7	FMNL3_HUMAN	formin-like 3						actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCTGAACTTCTGTAAAAAGGG	0.507																																																	0													94	94	94					12																	50059693		1931	4156	6087	SO:0001630	splice_region_variant	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.292-2A>C	12.37:g.50059693T>G			B0JZA7|Q6ZRJ1	Splice_Site	SNP	-	e4-2	ENST00000293590.5	37	c.292-2		12	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178881	0.78564	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5477	0.68044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FMNL3	48345960	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.703000	0.84585	2.147000	0.66899	0.459000	0.35465	.	FMNL3	-	-		0.507	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		T	NM_175736	Intron	50059693	-1	no_errors	ENST00000293590	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	50059693	T	G	50059693	5	3	117	1	0	0	0	0	0	0	1	0	5971	1594	55	5	2885	5	FMNL3	12	50059693	Splice_Site	SNP	T	TCGA-EK-A3GK-01A-11D-A20U-09	575940	50059693	83792202	800	18268										
NCKAP5L	57701	genome.wustl.edu	37	chr12	50195664	50195664	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgtcgtgagctggagtttCtgctgaaacagggcactcag	13	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50195664C>T	ENST00000335999.6	-	6	519	c.318G>A	c.(316-318)caG>caA	p.Q106Q		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	102										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGGAGTTTCTGCTGAAACA	0.607																																																	0													137	156	150					12																	50195664		2161	4259	6420	SO:0001819	synonymous_variant	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.318G>A	12.37:g.50195664C>T			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	NULL	p.Q106	ENST00000335999.6	37	c.318	CCDS41781.2	12																																																																																			NCKAP5L	-	NULL		0.607	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	HGNC	protein_coding	OTTHUMT00000346884.2	C	XM_035497		50195664	-1	no_errors	ENST00000335999	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50195664	C	T	50195664	2	4	117	1	0	0	0	0	0	0	0	1	10248	912	32	1		1	NCKAP5L	12	50195664	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	135971	50195664	83656231	801	18269										
RACGAP1	29127	genome.wustl.edu	37	chr12	50398061	50398061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctgatatctgataaaatgGaaccagattcatcaatggtt	8	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50398061G>T	ENST00000427314.2	-	7	675	c.452C>A	c.(451-453)tCc>tAc	p.S151Y	RACGAP1_ENST00000547905.1_Missense_Mutation_p.S151Y|RACGAP1_ENST00000454520.2_Missense_Mutation_p.S151Y|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S151Y|RACGAP1_ENST00000434422.1_Missense_Mutation_p.S151Y|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S151Y|RACGAP1_ENST00000547061.1_5'Flank	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGATAAAATGGAACCAGATTC	0.368																																																	0													148	134	139					12																	50398061		2203	4300	6503	SO:0001583	missense	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.452C>A	12.37:g.50398061G>T	ENSP00000404190:p.Ser151Tyr			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S151Y	ENST00000427314.2	37	c.452	CCDS8795.1	12	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906465	0.72868	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-0.54;-0.54;-1.42;-1.42;-1.42;-1.42;-1.3	6.11	6.11	0.99139	.	0.045388	0.85682	D	0.000000	D	0.83862	0.5346	M	0.82823	2.61	0.80722	D	1	P	0.49961	0.93	B	0.40982	0.345	D	0.85845	0.1400	10	0.56958	D	0.05	-15.9685	20.7342	0.99715	0.0:0.0:1.0:0.0	.	151	Q9H0H5	RGAP1_HUMAN	Y	151;151;151;151;151;151;151;77;77;93;93;151;163;151	ENSP00000404190:S151Y;ENSP00000309871:S151Y;ENSP00000413241:S151Y;ENSP00000404808:S151Y;ENSP00000449374:S151Y;ENSP00000449370:S151Y;ENSP00000448697:S151Y;ENSP00000446642:S77Y;ENSP00000447429:S77Y;ENSP00000449963:S93Y;ENSP00000450064:S93Y;ENSP00000449170:S151Y;ENSP00000449620:S163Y;ENSP00000449669:S151Y	ENSP00000309871:S151Y	S	-	2	0	RACGAP1	48684328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	TCC	RACGAP1	-	NULL		0.368	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	G	NM_013277		50398061	-1	no_errors	ENST00000312377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50398061	G	T	50398061	3	4	117	1	0	0	0	0	1	0	0	0	13007	1174	41	3	1498	3	RACGAP1	12	50398061	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	202397	50398061	83453834	802	18270										
LIMA1	51474	genome.wustl.edu	37	chr12	50575814	50575814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtctctcttgcaggtgcctGaaacttctaggaaaaacaaa	9	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50575814G>C	ENST00000341247.4	-	10	1296	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	LIMA1_ENST00000547825.1_Missense_Mutation_p.Q81E|LIMA1_ENST00000394943.3_Missense_Mutation_p.Q384E|LIMA1_ENST00000552783.1_Missense_Mutation_p.Q224E|LIMA1_ENST00000552823.1_Missense_Mutation_p.Q223E|LIMA1_ENST00000552909.1_Missense_Mutation_p.Q222E|LIMA1_ENST00000552491.1_Missense_Mutation_p.Q80E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	383					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GCAGGTGCCTGAAACTTCTAG	0.483																																																	0													75	75	75					12																	50575814		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1147C>G	12.37:g.50575814G>C	ENSP00000340184:p.Gln383Glu		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q384E	ENST00000341247.4	37	c.1150	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328369	0.81690	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84516	-1.11;-1.11;-1.44;-1.86;-1.13;-1.45;-1.44	5.49	5.49	0.81192	Zinc finger, LIM-type (1);	0.258350	0.40818	N	0.001005	D	0.89908	0.6851	M	0.71581	2.175	0.51767	D	0.999939	D;P;P	0.62365	0.991;0.895;0.829	P;P;P	0.55011	0.766;0.573;0.481	D	0.88080	0.2806	10	0.33940	T	0.23	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	393;383;222	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	E	80;81;223;384;383;224;222;302	ENSP00000448463:Q80E;ENSP00000448706:Q81E;ENSP00000450266:Q223E;ENSP00000378400:Q384E;ENSP00000340184:Q383E;ENSP00000448779:Q224E;ENSP00000450087:Q222E	ENSP00000340184:Q383E	Q	-	1	0	LIMA1	48862081	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.585000	0.82584	2.746000	0.94184	0.655000	0.94253	CAG	LIMA1	-	NULL		0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	G	NM_016357		50575814	-1	no_errors	ENST00000394943	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50575814	G	C	50575814	3	2	117	1	0	0	0	0	1	0	0	0	8816	1299	45	1	1140	1	LIMA1	12	50575814	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	177753	50575814	83276081	803	18271										
KRT6B	3854	genome.wustl.edu	37	chr12	52845379	52845379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttgatctgctcacgctcctCggcccgcacccgctggatgg	11	17	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:52845379C>T	ENST00000252252.3	-	1	531	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	162	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E162*(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCACGCTCCTCGGCCCGCACC	0.602																																																	1	Substitution - Nonsense(1)	lung(1)											53	71	65					12																	52845379		2203	4296	6499	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.484G>A	12.37:g.52845379C>T	ENSP00000252252:p.Glu162Lys		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E162K	ENST00000252252.3	37	c.484	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734690	0.48939	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.88509	-2.39	3.28	2.39	0.29439	Filament (1);	0.000000	0.64402	D	0.000010	D	0.90003	0.6879	M	0.86420	2.815	0.42982	D	0.994465	P	0.51933	0.949	P	0.44732	0.459	D	0.90652	0.4583	10	0.87932	D	0	.	11.1408	0.48402	0.0:0.9063:0.0:0.0937	.	162	P04259	K2C6B_HUMAN	K	162	ENSP00000252252:E162K	ENSP00000252252:E162K	E	-	1	0	KRT6B	51131646	0.923000	0.31300	0.754000	0.31244	0.220000	0.24768	1.572000	0.36461	0.973000	0.38340	0.298000	0.19748	GAG	KRT6B	-	pfam_F		0.602	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	C	NM_005555		52845379	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	0.985	T	T	52845379	C	T	52845379	3	4	117	1	0	0	0	0	1	0	0	0	8501	893	31	1	1246	1	KRT6B	12	52845379	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2269565	52845379	81006516	804	18272										
SOAT2	8435	genome.wustl.edu	37	chr12	53509913	53509913	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgaaaagctactccttcctGagagaggctgtgcctgggac	12	10	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:53509913G>A	ENST00000301466.3	+	7	801	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	247					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACTCCTTCCTGAGAGAGGCTG	0.527																																																	0													157	140	146					12																	53509913		2203	4300	6503	SO:0001819	synonymous_variant	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.741G>A	12.37:g.53509913G>A			F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	pfam_MBOAT_fam	p.L247	ENST00000301466.3	37	c.741	CCDS8847.1	12																																																																																			SOAT2	-	pfam_MBOAT_fam		0.527	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	G			53509913	1	no_errors	ENST00000301466	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53509913	G	A	53509913	2	1	117	1	0	0	0	0	0	0	0	1	14941	1277	45	1		1	SOAT2	12	53509913	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	664534	53509913	80341982	805	18273										
MAP3K12	7786	genome.wustl.edu	37	chr12	53880774	53880774	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggagtaggctttgccaatCatggtccagacagggcgcag	15	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:53880774C>T	ENST00000267079.2	-	3	528	c.303G>A	c.(301-303)atG>atA	p.M101I	MAP3K12_ENST00000547488.1_Missense_Mutation_p.M134I|MAP3K12_ENST00000547035.1_Missense_Mutation_p.M134I|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	101					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTTTGCCAATCATGGTCCAGA	0.602																																																	0													101	76	84					12																	53880774		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.303G>A	12.37:g.53880774C>T	ENSP00000267079:p.Met101Ile		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M101I	ENST00000267079.2	37	c.303	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	C	8.038	0.763241	0.15914	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.74632	-0.83;-0.86;-0.86	4.73	4.73	0.59995	.	0.000000	0.51477	D	0.000092	T	0.55768	0.1941	N	0.14661	0.345	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.20955	0.032;0.014	T	0.54476	-0.8288	10	0.02654	T	1	.	16.8523	0.85996	0.0:1.0:0.0:0.0	.	134;101	G3V1Y2;Q12852	.;M3K12_HUMAN	I	101;134;134	ENSP00000267079:M101I;ENSP00000449038:M134I;ENSP00000448689:M134I	ENSP00000267079:M101I	M	-	3	0	MAP3K12	52167041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.191000	0.42640	2.353000	0.79882	0.462000	0.41574	ATG	MAP3K12	-	pirsf_MAP3K12_MAP3K13		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	C	NM_006301		53880774	-1	no_errors	ENST00000267079	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53880774	C	T	53880774	3	4	117	1	0	0	0	0	1	0	0	0	9269	826	29	1	2328	1	MAP3K12	12	53880774	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	370861	53880774	79971121	806	18274										
HOXC8	3224	genome.wustl.edu	37	chr12	54404916	54404916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaacttacagccggtatcaGaccttggaactagaaaagga	9	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54404916G>A	ENST00000040584.4	+	2	717	c.480G>A	c.(478-480)caG>caA	p.Q160Q	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	160					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GCCGGTATCAGACCTTGGAAC	0.498																																					GBM(197;701 2226 7002 18822 41696)												0													71	68	69					12																	54404916		2203	4300	6503	SO:0001819	synonymous_variant	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.480G>A	12.37:g.54404916G>A			A8K4J4|O15221|O15362	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.Q160	ENST00000040584.4	37	c.480	CCDS8870.1	12																																																																																			HOXC8	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.498	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	G			54404916	1	no_errors	ENST00000040584	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54404916	G	A	54404916	2	1	117	1	0	0	0	0	0	0	0	1	7336	933	33	1		1	HOXC8	12	54404916	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	524142	54404916	79446979	807	18275										
HNRNPA1	3178	genome.wustl.edu	37	chr12	54674604	54674604	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgccgtcatgtctaagtcaGaggtgagttaggcgcgcttt	13	9	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54674604G>A	ENST00000340913.6	+	1	66	c.13G>A	c.(13-15)Gag>Aag	p.E5K	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E5K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E5K|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.E5K|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA|CBX5_ENST00000209875.4_5'Flank	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	5	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTCTAAGTCAGAGGTGAGTTA	0.527																																					Colon(83;502 1289 8436 16406 24870)												0													198	205	202					12																	54674604		2152	4269	6421	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.13G>A	12.37:g.54674604G>A	ENSP00000341826:p.Glu5Lys		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E5K	ENST00000340913.6	37	c.13	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629227	0.87560	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276	D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.07	5.07	0.68467	.	0.115617	0.34750	N	0.003711	D	0.88273	0.6392	L	0.47016	1.485	0.35201	D	0.774293	P;D;P;B;D;P	0.52996	0.917;0.957;0.494;0.045;0.957;0.768	P;P;B;B;P;B	0.53313	0.584;0.723;0.221;0.162;0.723;0.298	D	0.91929	0.5553	10	0.72032	D	0.01	.	14.6805	0.69015	0.0:0.0:1.0:0.0	.	5;5;5;5;5;5	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	K	5	ENSP00000448617:E5K;ENSP00000448229:E5K;ENSP00000341826:E5K;ENSP00000333504:E5K;ENSP00000448117:E5K;ENSP00000447260:E5K	ENSP00000333504:E5K	E	+	1	0	HNRNPA1	52960871	1.000000	0.71417	0.990000	0.47175	0.561000	0.35649	4.670000	0.61583	2.745000	0.94114	0.491000	0.48974	GAG	HNRNPA1	-	NULL		0.527	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	HGNC	protein_coding	OTTHUMT00000405480.1	G	NM_031157		54674604	1	no_errors	ENST00000340913	ensembl	human	known	70_37	missense	SNP	0.991	A	A	54674604	G	A	54674604	3	1	117	1	0	0	0	0	1	0	0	0	7277	943	33	1	15	1	HNRNPA1	12	54674604	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	269688	54674604	79177291	808	18276										
NCKAP1L	3071	genome.wustl.edu	37	chr12	54929976	54929976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttgatctttctggcagtttCcctcccactccttgccactg	6	16	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54929976C>T	ENST00000293373.6	+	28	3099	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S957F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1007					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCAGTTTCCCTCCCACTC	0.453																																																	0													178	143	155					12																	54929976		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3020C>T	12.37:g.54929976C>T	ENSP00000293373:p.Ser1007Phe		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.S1007F	ENST00000293373.6	37	c.3020	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046848	0.55110	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38560	1.13;1.13	4.31	4.31	0.51392	.	0.130056	0.53938	D	0.000058	T	0.64659	0.2618	M	0.78456	2.415	0.58432	D	0.999996	P	0.43519	0.809	D	0.64321	0.924	T	0.68823	-0.5307	10	0.87932	D	0	-2.9181	14.6721	0.68951	0.0:1.0:0.0:0.0	.	1007	P55160	NCKPL_HUMAN	F	1007;957	ENSP00000293373:S1007F;ENSP00000445596:S957F	ENSP00000293373:S1007F	S	+	2	0	NCKAP1L	53216243	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.261000	0.65496	2.407000	0.81776	0.655000	0.94253	TCC	NCKAP1L	-	pfam_Nck-associated_protein-1		0.453	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	C	NM_005337		54929976	1	no_errors	ENST00000293373	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54929976	C	T	54929976	3	4	117	1	0	0	0	0	1	0	0	0	10246	855	30	1	3130	1	NCKAP1L	12	54929976	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	255372	54929976	78921919	809	18277										
GDF11	10220	genome.wustl.edu	37	chr12	56137352	56137352	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcatcaagtcgcagatcttGagcaaactgcggctcaagga	11	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56137352G>C	ENST00000257868.5	+	1	289	c.252G>C	c.(250-252)ttG>ttC	p.L84F		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	84					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCAGATCTTGAGCAAACTGC	0.682																																																	0													15	18	17					12																	56137352		2171	4244	6415	SO:0001583	missense	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.252G>C	12.37:g.56137352G>C	ENSP00000257868:p.Leu84Phe		Q9UID1|Q9UID2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L84F	ENST00000257868.5	37	c.252	CCDS8891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.813860|3.813860	0.70912|0.70912	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.80214|.	-1.35|.	2.74|2.74	1.81|1.81	0.25067|0.25067	Transforming growth factor-beta, N-terminal (1);|.	0.105042|.	0.40818|.	U|.	0.001013|.	T|.	0.71256|.	0.3318|.	M|M	0.80616|0.80616	2.505|2.505	0.42075|0.42075	D|D	0.991228|0.991228	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.71101|.	-0.4690|.	10|.	0.87932|.	D|.	0|.	-5.6369|-5.6369	9.647|9.647	0.39875|0.39875	0.0:0.2163:0.7837:0.0|0.0:0.2163:0.7837:0.0	.|.	84|.	O95390|.	GDF11_HUMAN|.	F|S	84|57	ENSP00000257868:L84F|.	ENSP00000257868:L84F|.	L|X	+|+	3|2	2|2	GDF11|GDF11	54423619|54423619	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.246000|0.246000	0.18160|0.18160	0.705000|0.705000	0.31890|0.31890	0.456000|0.456000	0.33151|0.33151	TTG|TGA	GDF11	-	pfam_TGF-b_N		0.682	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF11	HGNC	protein_coding	OTTHUMT00000407842.3	G			56137352	1	no_errors	ENST00000257868	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56137352	G	C	56137352	3	2	117	1	0	0	0	0	1	0	0	0	6331	1281	45	1	254	1	GDF11	12	56137352	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1207376	56137352	77714543	810	18278										
ERBB3	2065	genome.wustl.edu	37	chr12	56489566	56489566	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attcagaataaaagggctatGaggcgatacttggaacgggg	14	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56489566G>A	ENST00000267101.3	+	17	2471	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.M34I|ERBB3_ENST00000415288.2_Missense_Mutation_p.M618I|ERBB3_ENST00000549832.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	677					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAAGGGCTATGAGGCGATACT	0.433																																																	0													151	138	142					12																	56489566		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2031G>A	12.37:g.56489566G>A	ENSP00000267101:p.Met677Ile		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M677I	ENST00000267101.3	37	c.2031	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577105	0.86645	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.76839	-1.05;-1.01;-1.05	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	L	0.29908	0.895	0.80722	D	1	P;P	0.45569	0.86;0.861	P;P	0.51170	0.661;0.471	T	0.78881	-0.2029	10	0.52906	T	0.07	.	16.9268	0.86178	0.0:0.0:1.0:0.0	.	618;677	P21860-4;P21860	.;ERBB3_HUMAN	I	677;34;618	ENSP00000267101:M677I;ENSP00000399178:M34I;ENSP00000408340:M618I	ENSP00000267101:M677I	M	+	3	0	ERBB3	54775833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.854000	0.86942	2.540000	0.85666	0.655000	0.94253	ATG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.433	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56489566	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56489566	G	A	56489566	3	1	117	1	0	0	0	0	1	0	0	0	5220	1290	45	1	2228	1	ERBB3	12	56489566	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	352214	56489566	77362329	811	18279										
RNF41	10193	genome.wustl.edu	37	chr12	56601988	56601988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgttcagctgacgtcttctCcagctctgcgatgcgtgtct	11	12	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56601988C>T	ENST00000345093.4	-	5	826	c.457G>A	c.(457-459)Gag>Aag	p.E153K	RNF41_ENST00000552244.1_Missense_Mutation_p.E153K|RNF41_ENST00000552656.1_Missense_Mutation_p.E153K|RNF41_ENST00000394013.2_Missense_Mutation_p.E82K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	153					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						GACGTCTTCTCCAGCTCTGCG	0.562																																																	0													126	102	111					12																	56601988		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.457G>A	12.37:g.56601988C>T	ENSP00000342755:p.Glu153Lys		A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E153K	ENST00000345093.4	37	c.457	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950728	0.34471	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656;ENST00000551711;ENST00000552244;ENST00000549038	T;T;T;T	0.09073	3.06;3.06;3.02;3.03	5.08	5.08	0.68730	USP8 interacting (1);	0.213988	0.48286	D	0.000193	T	0.03053	0.0090	N	0.01352	-0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.35895	-0.9770	10	0.02654	T	1	.	17.7887	0.88546	0.0:1.0:0.0:0.0	.	140;153	B4E353;Q9H4P4	.;RNF41_HUMAN	K	153;82;140;153;82;153;153	ENSP00000342755:E153K;ENSP00000447303:E153K;ENSP00000448187:E153K;ENSP00000446595:E153K	ENSP00000342755:E153K	E	-	1	0	RNF41	54888255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.587000	0.82613	2.826000	0.97356	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56601988	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56601988	C	T	56601988	3	4	117	1	0	0	0	0	1	0	0	0	13524	864	30	1	508	1	RNF41	12	56601988	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	112422	56601988	77249907	812	18280										
SLC39A5	283375	genome.wustl.edu	37	chr12	56630940	56630940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctgtctccaataggtgactTtgccatgctgctccagtcag	9	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56630940T>C	ENST00000266980.4	+	10	1588	c.1295T>C	c.(1294-1296)tTt>tCt	p.F432S	SLC39A5_ENST00000419232.1_3'UTR|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.F432S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	432					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATAGGTGACTTTGCCATGCTG	0.632																																																	0													52	51	51					12																	56630940		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1295T>C	12.37:g.56630940T>C	ENSP00000266980:p.Phe432Ser		B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.F432S	ENST00000266980.4	37	c.1295	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769088	0.69992	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.52983	0.64;0.64	4.61	3.44	0.39384	.	0.000000	0.56097	D	0.000021	T	0.65923	0.2738	H	0.94183	3.505	0.52099	D	0.99994	P	0.47841	0.901	P	0.52386	0.697	T	0.68804	-0.5312	10	0.59425	D	0.04	-15.3874	6.684	0.23134	0.152:0.0:0.1579:0.6901	.	432	Q6ZMH5	S39A5_HUMAN	S	432	ENSP00000405360:F432S;ENSP00000266980:F432S	ENSP00000266980:F432S	F	+	2	0	SLC39A5	54917207	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	3.348000	0.52209	0.882000	0.36016	0.459000	0.35465	TTT	SLC39A5	-	pfam_ZIP		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	T	NM_173596		56630940	1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	0.999	C	C	56630940	T	C	56630940	3	2	117	1	0	0	0	0	1	0	0	0	14651	1841	64	5	1329	5	SLC39A5	12	56630940	Missense_Mutation	SNP	T	TCGA-EK-A3GK-01A-11D-A20U-09	28952	56630940	77220955	813	18281										
STAT2	6773	genome.wustl.edu	37	chr12	56737674	56737674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctggctctggcactggctgtGatacaggtccttggtctggc	14	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56737674G>A	ENST00000314128.4	-	23	2371	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	STAT2_ENST00000557235.1_Missense_Mutation_p.S779L|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	783					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CACTGGCTGTGATACAGGTCC	0.507																																																	0													209	181	190					12																	56737674		2203	4300	6503	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2348C>T	12.37:g.56737674G>A	ENSP00000315768:p.Ser783Leu		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S783L	ENST00000314128.4	37	c.2348	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084180	0.36758	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	T;T	0.46819	0.86;0.86	4.1	-1.21	0.09524	Signal transducer and activation of transcription 2, C-terminal (1);	2.704500	0.01178	N	0.007033	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.12016	-1.0564	10	0.34782	T	0.22	4.7987	4.1218	0.10109	0.456:0.3792:0.1648:0.0	.	779;783	G3V2M6;P52630	.;STAT2_HUMAN	L	783;779	ENSP00000315768:S783L;ENSP00000450751:S779L	ENSP00000315768:S783L	S	-	2	0	STAT2	55023941	0.000000	0.05858	0.000000	0.03702	0.559000	0.35586	0.407000	0.21049	-0.177000	0.10690	0.561000	0.74099	TCA	STAT2	-	pfam_STAT2_C		0.507	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	G	NM_005419		56737674	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56737674	G	A	56737674	3	1	117	1	0	0	0	0	1	0	0	0	15295	1294	45	1	215	1	STAT2	12	56737674	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	106734	56737674	77114221	814	18282										
STAT2	6773	genome.wustl.edu	37	chr12	56740733	56740733	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctccgactcacaaagcccatGatgcgtctggagcacagaga	10	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56740733G>A	ENST00000314128.4	-	20	1754	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	STAT2_ENST00000557235.1_Silent_p.I573I|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	577	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAAAGCCCATGATGCGTCTGG	0.602																																																	0													67	58	61					12																	56740733		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1731C>T	12.37:g.56740733G>A			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.I577	ENST00000314128.4	37	c.1731	CCDS8917.1	12																																																																																			STAT2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.602	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	G	NM_005419		56740733	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56740733	G	A	56740733	2	1	117	1	0	0	0	0	0	0	0	1	15295	1280	45	1		1	STAT2	12	56740733	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3059	56740733	77111162	815	18283										
LRP1	4035	genome.wustl.edu	37	chr12	57522810	57522810	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctctggtcgcggcggctatCgacggtgagtgagattccgc	16	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:57522810C>G	ENST00000243077.3	+	1	529	c.63C>G	c.(61-63)atC>atG	p.I21M	LRP1_ENST00000338962.4_Missense_Mutation_p.I21M|LRP1_ENST00000553277.1_Missense_Mutation_p.I21M|LRP1_ENST00000554174.1_Missense_Mutation_p.I21M|STAT6_ENST00000556155.1_5'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	21					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCGGCTATCGACGGTGAGT	0.687																																																	0													32	30	30					12																	57522810		1828	3421	5249	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.63C>G	12.37:g.57522810C>G	ENSP00000243077:p.Ile21Met		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I21M	ENST00000243077.3	37	c.63	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220732	0.22457	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.90133	-2.57;-2.61;-2.52;-2.62	4.08	0.912	0.19349	.	0.339279	0.22667	N	0.057103	T	0.80071	0.4556	N	0.24115	0.695	0.21627	N	0.999616	B;B;B;B	0.14805	0.001;0.011;0.0;0.0	B;B;B;B	0.08055	0.0;0.001;0.001;0.003	T	0.66826	-0.5825	10	0.37606	T	0.19	.	5.7175	0.17968	0.0:0.4737:0.4118:0.1145	.	21;21;21;21	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	M	21	ENSP00000451449:I21M;ENSP00000243077:I21M;ENSP00000341264:I21M;ENSP00000451737:I21M	ENSP00000243077:I21M	I	+	3	3	LRP1	55809077	0.989000	0.36119	0.720000	0.30636	0.973000	0.67179	0.276000	0.18716	0.462000	0.27095	0.549000	0.68633	ATC	LRP1	-	NULL		0.687	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	C	NM_002332		57522810	1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	0.689	G	G	57522810	C	G	57522810	3	3	117	1	0	0	0	0	1	0	0	0	8974	874	31	1	65	1	LRP1	12	57522810	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	782077	57522810	76329085	816	18284										
KIF5A	3798	genome.wustl.edu	37	chr12	57944127	57944127	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgaaccaggctgagattCtgcggggagacaagttcatc	12	11	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:57944127C>T	ENST00000455537.2	+	1	347	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	KIF5A_ENST00000286452.5_Silent_p.L25L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	25	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGCTGAGATTCTGCGGGGAGA	0.612																																																	0													89	79	82					12																	57944127		2203	4300	6503	SO:0001819	synonymous_variant	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.73C>T	12.37:g.57944127C>T			A6H8M5|Q4LE26	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L25	ENST00000455537.2	37	c.73	CCDS8945.1	12																																																																																			KIF5A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.612	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	C	NM_004984		57944127	1	no_errors	ENST00000455537	ensembl	human	known	70_37	silent	SNP	0.985	T	T	57944127	C	T	57944127	2	4	117	1	0	0	0	0	0	0	0	1	8325	912	32	1		1	KIF5A	12	57944127	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	421317	57944127	75907768	817	18285										
CDK4	1019	genome.wustl.edu	37	chr12	58145321	58145321	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaaaagcctccagtcgcctCagtaaagccacctcacgaac	6	16	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:58145321C>T	ENST00000257904.6	-	2	545	c.180G>A	c.(178-180)ctG>ctA	p.L60L	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Silent_p.L60L	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCAGTCGCCTCAGTAAAGCCA	0.572			Mis			melanoma			Hereditary Melanoma																														yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													109	93	98					12																	58145321		2203	4300	6503	SO:0001819	synonymous_variant	1019	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"Cyclin-dependent kinases"	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.180G>A	12.37:g.58145321C>T			B2R9A0|B4DNF9|O00576|Q6FG61	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L60	ENST00000257904.6	37	c.180	CCDS8953.1	12																																																																																			CDK4	-	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		0.572	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK4	HGNC	protein_coding	OTTHUMT00000408790.2	C	NM_000075		58145321	-1	no_errors	ENST00000257904	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58145321	C	T	58145321	2	4	117	1	0	0	0	0	0	0	0	1	3146	813	29	1		1	CDK4	12	58145321	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	201194	58145321	75706574	818	18286										
C12orf56	115749	genome.wustl.edu	37	chr12	64664437	64664437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggcagggacttagcagctGaaatgaagctgaaagacccc	12	9	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:64664437G>C	ENST00000543942.2	-	12	2268	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.Q388E	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	548										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTTAGCAGCTGAAATGAAGCT	0.458																																																	0													82	76	78					12																	64664437		1879	4129	6008	SO:0001583	missense	115749				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1642C>G	12.37:g.64664437G>C	ENSP00000446101:p.Gln548Glu			Missense_Mutation	SNP	NULL	p.Q388E	ENST00000543942.2	37	c.1162		12	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.551397	0.00918	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	5.19	5.19	0.71726	.	0.423636	0.24764	N	0.035794	T	0.48390	0.1497	M	0.63428	1.95	0.24809	N	0.99265	B;P	0.36837	0.341;0.571	B;B	0.39027	0.215;0.288	T	0.47947	-0.9077	8	.	.	.	-5.1785	14.4315	0.67254	0.0:0.0:1.0:0.0	.	388;551	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	E	388;549;551	.	.	Q	-	1	0	C12orf56	62950704	0.984000	0.35163	0.906000	0.35671	0.005000	0.04900	3.940000	0.56599	2.873000	0.98535	0.563000	0.77884	CAG	C12orf56	-	NULL		0.458	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	G	NM_001099676		64664437	-1	no_errors	ENST00000333722	ensembl	human	known	70_37	missense	SNP	0.777	C	C	64664437	G	C	64664437	3	2	117	1	0	0	0	0	1	0	0	0	1704	1299	45	1	234	1	C12orf56	12	64664437	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6519116	64664437	69187458	819	18287										
ZFC3H1	196441	genome.wustl.edu	37	chr12	72057194	72057194	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagagccaccgcctccgccaGatccaccgccccgggccgag	11	20	0	2	rs200302420		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:72057194G>A	ENST00000378743.3	-	1	555	c.197C>T	c.(196-198)tCt>tTt	p.S66F	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S66F|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S66F|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	66	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCTCCGCCAGATCCACCGCC	0.672											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40	49	46					12																	72057194		2006	4184	6190	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.197C>T	12.37:g.72057194G>A	ENSP00000368017:p.Ser66Phe	1134	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.S66F	ENST00000378743.3	37	c.197	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295624	0.60086	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.34072	1.38	4.66	4.66	0.58398	.	0.207406	0.32624	N	0.005859	T	0.41073	0.1143	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.99	D;D;D	0.78314	0.991;0.991;0.962	T	0.36163	-0.9759	10	0.48119	T	0.1	.	12.9032	0.58137	0.0:0.0:1.0:0.0	.	66;66;66	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	F	66	ENSP00000368017:S66F	ENSP00000368017:S66F	S	-	2	0	ZFC3H1	70343461	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.628000	0.67791	2.427000	0.82271	0.455000	0.32223	TCT	ZFC3H1	-	NULL		0.672	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72057194	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72057194	G	A	72057194	3	1	117	1	0	0	0	0	1	0	0	0	17663	942	33	1	5912	1	ZFC3H1	12	72057194	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7392757	72057194	61794701	820	18288										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80191124	80191124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctctggttcgggtagaacGacttcttcctattgttttct	8	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:80191124G>A	ENST00000450142.2	-	16	2409	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R715C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R659C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R715C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R628C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	715	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CGGGTAGAACGACTTCTTCCT	0.343																																																	0													84	71	75					12																	80191124		1830	4082	5912	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2143C>T	12.37:g.80191124G>A	ENSP00000389168:p.Arg715Cys		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R715C	ENST00000450142.2	37	c.2143	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227201	0.79576	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.49720	1.09;1.09;1.08;1.12;1.07;1.05;0.77	5.31	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.997	P;P;P;P	0.56916	0.736;0.809;0.736;0.649	T	0.69213	-0.5204	10	0.54805	T	0.06	.	15.9995	0.80280	0.0:0.1343:0.8657:0.0	.	656;715;659;715	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	C	715;715;715;659;656;715;715;628;659;656;295	ENSP00000261207:R715C;ENSP00000389168:R715C;ENSP00000416769:R715C;ENSP00000449514:R628C;ENSP00000446855:R659C;ENSP00000446816:R656C;ENSP00000450061:R295C	ENSP00000261207:R715C	R	-	1	0	PPP1R12A	78715255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.357000	0.79456	2.466000	0.83321	0.591000	0.81541	CGT	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.343	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	G	NM_002480		80191124	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80191124	G	A	80191124	3	1	117	1	0	0	0	0	1	0	0	0	12381	1058	37	1	989	1	PPP1R12A	12	80191124	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8133930	80191124	53660771	821	18289										
MYF6	4618	genome.wustl.edu	37	chr12	81102693	81102693	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcgtggacagtatttcctCggaggaacgcaaactcccct	9	13	0	0	rs201098963		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:81102693C>G	ENST00000228641.3	+	3	905	c.683C>G	c.(682-684)tCg>tGg	p.S228W		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	228					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTATTTCCTCGGAGGAACGC	0.522																																																	0													134	116	122					12																	81102693		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.683C>G	12.37:g.81102693C>G	ENSP00000228641:p.Ser228Trp		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.S228W	ENST00000228641.3	37	c.683	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094278	0.56075	.	.	ENSG00000111046	ENST00000228641	D	0.96522	-4.04	5.6	5.6	0.85130	.	0.169939	0.51477	D	0.000081	D	0.97486	0.9177	M	0.64997	1.995	0.58432	D	0.999996	D	0.76494	0.999	D	0.65443	0.935	D	0.97978	1.0347	10	0.72032	D	0.01	-36.0983	17.393	0.87437	0.0:1.0:0.0:0.0	.	228	P23409	MYF6_HUMAN	W	228	ENSP00000228641:S228W	ENSP00000228641:S228W	S	+	2	0	MYF6	79626824	0.991000	0.36638	0.996000	0.52242	0.997000	0.91878	3.218000	0.51192	2.638000	0.89438	0.591000	0.81541	TCG	MYF6	-	NULL		0.522	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	C	NM_002469		81102693	1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	0.974	G	G	81102693	C	G	81102693	3	3	117	1	0	0	0	0	1	0	0	0	10051	893	31	1	693	1	MYF6	12	81102693	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	911569	81102693	52749202	822	18290										
RASSF9	9182	genome.wustl.edu	37	chr12	86198527	86198527	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tactgttgtttcggagtcctGactgtggttagaactgatac	11	7	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:86198527G>C	ENST00000361228.3	-	2	1629	c.1261C>G	c.(1261-1263)Cag>Gag	p.Q421E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	421					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGGAGTCCTGACTGTGGTTA	0.413																																																	0													130	122	125					12																	86198527		1973	4163	6136	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1261C>G	12.37:g.86198527G>C	ENSP00000354884:p.Gln421Glu		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	smart_Ras-assoc,pfscan_Ras-assoc	p.Q421E	ENST00000361228.3	37	c.1261	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674312	0.67928	.	.	ENSG00000198774	ENST00000361228	T	0.69561	-0.41	5.29	5.29	0.74685	.	0.000000	0.85682	U	0.000000	T	0.82001	0.4942	M	0.69823	2.125	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.83418	0.0031	10	0.72032	D	0.01	-10.8742	19.2781	0.94040	0.0:0.0:1.0:0.0	.	421	O75901	RASF9_HUMAN	E	421	ENSP00000354884:Q421E	ENSP00000354884:Q421E	Q	-	1	0	RASSF9	84722658	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.751000	0.98889	2.630000	0.89119	0.650000	0.86243	CAG	RASSF9	-	NULL		0.413	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	HGNC	protein_coding	OTTHUMT00000406109.1	G			86198527	-1	no_errors	ENST00000361228	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86198527	G	C	86198527	3	2	117	1	0	0	0	0	1	0	0	0	13123	1299	45	1	50	1	RASSF9	12	86198527	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5095834	86198527	47653368	823	18291										
TMTC3	160418	genome.wustl.edu	37	chr12	88542183	88542183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttttgtggttttgtttttGatgatgtttcagcaatactg	9	4	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:88542183G>C	ENST00000266712.6	+	2	311	c.91G>C	c.(91-93)Gat>Cat	p.D31H		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	31					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTTGTTTTTGATGATGTTTC	0.353																																																	0													157	144	148					12																	88542183		2203	4300	6503	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.91G>C	12.37:g.88542183G>C	ENSP00000266712:p.Asp31His		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D31H	ENST00000266712.6	37	c.91	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799632	0.90538	.	.	ENSG00000139324	ENST00000549011;ENST00000266712;ENST00000551088	D;D	0.95137	-3.62;-2.03	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	10	0.87932	D	0	-24.1556	19.3897	0.94576	0.0:0.0:1.0:0.0	.	31	Q6ZXV5-2	.	H	31	ENSP00000447640:D31H;ENSP00000266712:D31H	ENSP00000266712:D31H	D	+	1	0	TMTC3	87066314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.775000	0.98995	2.669000	0.90835	0.585000	0.79938	GAT	TMTC3	-	NULL		0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	G	NM_181783		88542183	1	no_errors	ENST00000266712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88542183	G	C	88542183	3	2	117	1	0	0	0	0	1	0	0	0	16292	1290	45	1	93	1	TMTC3	12	88542183	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2343656	88542183	45309712	824	18292										
NR2C1	7181	genome.wustl.edu	37	chr12	95422265	95422265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtagtttgaagatgtgctCcatcaataattttcttcttt	6	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:95422265C>G	ENST00000333003.5	-	12	1759	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	477					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAGATGTGCTCCATCAATAAT	0.328																																																	0													128	116	120					12																	95422265		2203	4300	6503	SO:0001583	missense	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1429G>C	12.37:g.95422265C>G	ENSP00000333275:p.Glu477Gln		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.E477Q	ENST00000333003.5	37	c.1429	CCDS9051.1	12	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499475	0.64298	.	.	ENSG00000120798	ENST00000333003	D	0.97731	-4.51	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.195730	0.53938	D	0.000054	D	0.97598	0.9213	M	0.73962	2.25	0.80722	D	1	B	0.31989	0.35	B	0.40534	0.332	D	0.97729	1.0201	10	0.51188	T	0.08	.	18.7954	0.91991	0.0:1.0:0.0:0.0	.	477	P13056	NR2C1_HUMAN	Q	477	ENSP00000333275:E477Q	ENSP00000333275:E477Q	E	-	1	0	NR2C1	93946396	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.818000	0.86416	2.421000	0.82119	0.563000	0.77884	GAG	NR2C1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.328	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2	C	NM_003297		95422265	-1	no_errors	ENST00000333003	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95422265	C	G	95422265	3	3	117	1	0	0	0	0	1	0	0	0	10646	864	30	1	394	1	NR2C1	12	95422265	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6880082	95422265	38429630	825	18293										
FGD6	55785	genome.wustl.edu	37	chr12	95604511	95604511	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtgtattaaggcatctttGagctcctcttctaaaacgct	8	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:95604511G>C	ENST00000343958.4	-	2	772	c.549C>G	c.(547-549)ctC>ctG	p.L183L	FGD6_ENST00000546711.1_Silent_p.L183L|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.L183L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	183					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGGCATCTTTGAGCTCCTCTT	0.418																																																	0													84	78	80					12																	95604511		2203	4300	6503	SO:0001819	synonymous_variant	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.549C>G	12.37:g.95604511G>C			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L183	ENST00000343958.4	37	c.549	CCDS31878.1	12																																																																																			FGD6	-	NULL		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	G	NM_018351		95604511	-1	no_errors	ENST00000343958	ensembl	human	known	70_37	silent	SNP	0.909	C	C	95604511	G	C	95604511	2	2	117	1	0	0	0	0	0	0	0	1	5855	1277	45	1		1	FGD6	12	95604511	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	182246	95604511	38247384	826	18294										
IKBIP	121457	genome.wustl.edu	37	chr12	99019962	99019962	+	Intron	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caagtcttccattttcttttCtgtttctatcagatcctgag							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99019962C>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E294K|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATTTTCTTTTCTGTTTCTATC	0.388																																																	0													78	75	76					12																	99019962		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8111G>A	12.37:g.99019962C>T			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E294K	ENST00000342502.2	37	c.880	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565233	0.86439	.	.	ENSG00000166130	ENST00000299157	T	0.70986	-0.53	5.54	5.54	0.83059	.	0.363657	0.33457	N	0.004881	D	0.85396	0.5687	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.86586	0.1857	9	0.66056	D	0.02	-25.4713	19.454	0.94880	0.0:1.0:0.0:0.0	.	294	Q70UQ0-4	.	K	294	ENSP00000299157:E294K	ENSP00000299157:E294K	E	-	1	0	IKBIP	97544093	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.908000	0.63307	2.596000	0.87737	0.655000	0.94253	GAA	IKBIP	-	NULL		0.388	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99019962	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99019962	C	T	99019962	1	4	117	0	1	0	0	0	0	0	0	0	7629	922	32	1		1	IKBIP	12	99019962	Intron	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3415451	99019962	34831933	827	18295	102	2	7	83		4	3	249	N	C	6.18255e-05
IKBIP	121457	genome.wustl.edu	37	chr12	99019972	99019972	+	Intron	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attttcttttctgtttctatCagatcctgagagactctgag							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99019972C>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Silent_p.L290L|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTGTTTCTATCAGATCCTGAG	0.368																																																	0													80	77	78					12																	99019972		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8101G>A	12.37:g.99019972C>T			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	NULL	p.L290	ENST00000342502.2	37	c.870	CCDS9067.1	12																																																																																			IKBIP	-	NULL		0.368	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99019972	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	silent	SNP	0.995	T	T	99019972	C	T	99019972	1	4	117	0	1	0	0	0	0	0	0	0	7629	813	29	1		1	IKBIP	12	99019972	Intron	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10	99019972	34831923	828	18296	102	2	7	83		4	3	249	N	C	6.18255e-05
IKBIP	121457	genome.wustl.edu	37	chr12	99020013	99020013	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacagagtgaatagcactttCaattgttggcaaatgtgtct	9	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99020013C>G	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E277Q|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATAGCACTTTCAATTGTTGGC	0.393																																																	0													107	105	106					12																	99020013		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8060G>C	12.37:g.99020013C>G			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E277Q	ENST00000342502.2	37	c.829	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110394	0.56398	.	.	ENSG00000166130	ENST00000299157	T	0.50813	0.73	5.54	5.54	0.83059	.	0.437380	0.28036	N	0.016848	T	0.67552	0.2905	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61282	-0.7094	9	0.23891	T	0.37	-18.2051	19.454	0.94880	0.0:1.0:0.0:0.0	.	277	Q70UQ0-4	.	Q	277	ENSP00000299157:E277Q	ENSP00000299157:E277Q	E	-	1	0	IKBIP	97544144	1.000000	0.71417	0.984000	0.44739	0.052000	0.14988	6.560000	0.73950	2.596000	0.87737	0.655000	0.94253	GAA	IKBIP	-	NULL		0.393	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99020013	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99020013	C	G	99020013	1	3	117	0	1	0	0	0	0	0	0	0	7629	835	29	1		1	IKBIP	12	99020013	Intron	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	41	99020013	34831882	829	18297			7	83		4	3	249	N	C	6.18255e-05
IKBIP	121457	genome.wustl.edu	37	chr12	99020210	99020210	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttttactgttctaatatttCttagtgtgctatcttccaaa	4	7	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99020210C>G	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.R211T|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTAATATTTCTTAGTGTGCT	0.368																																																	0													143	135	138					12																	99020210		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7863G>C	12.37:g.99020210C>G			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.R211T	ENST00000342502.2	37	c.632	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954803	0.73902	.	.	ENSG00000166130	ENST00000299157	T	0.55413	0.52	5.7	4.81	0.61882	.	0.394418	0.31335	N	0.007828	T	0.61949	0.2388	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.56612	0.802	T	0.59129	-0.7512	9	0.25106	T	0.35	-18.3712	14.6309	0.68655	0.0:0.93:0.0:0.07	.	211	Q70UQ0-4	.	T	211	ENSP00000299157:R211T	ENSP00000299157:R211T	R	-	2	0	IKBIP	97544341	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.889000	0.63171	1.414000	0.47017	0.650000	0.86243	AGA	IKBIP	-	NULL		0.368	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99020210	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99020210	C	G	99020210	1	3	117	0	1	0	0	0	0	0	0	0	7629	913	32	1		1	IKBIP	12	99020210	Intron	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	197	99020210	34831685	830	18298			7	83		4	3	249	N	C	6.18255e-05
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100441743	100441743	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttaaatttattttcgtgttaGaaacttgtatcttcattggc	6	5	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100441743G>C	ENST00000279907.7	-	18	4162	c.3950C>G	c.(3949-3951)tCt>tGt	p.S1317C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S967C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1317										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						tttCGTGTTAGAAACTTGTAT	0.284																																																	0													17	17	17					12																	100441743		2179	4276	6455	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3950C>G	12.37:g.100441743G>C	ENSP00000279907:p.Ser1317Cys		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.S1317C	ENST00000279907.7	37	c.3950	CCDS31882.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.60|16.60	3.169100|3.169100	0.57584|0.57584	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000548712|ENST00000279907;ENST00000545232	.|T;T	.|0.10763	.|2.85;2.84	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.249702	.|0.42682	.|D	.|0.000669	T|T	0.20577|0.20577	0.0495|0.0495	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.59825	.|0.864	T|T	0.00123|0.00123	-1.2026|-1.2026	5|10	.|0.66056	.|D	.|0.02	-15.0083|-15.0083	14.5602|14.5602	0.68130|0.68130	0.0:0.0:0.8538:0.1462|0.0:0.0:0.8538:0.1462	.|.	.|1317	.|A0JNW5	.|UH1BL_HUMAN	V|C	78|1317;967	.|ENSP00000279907:S1317C;ENSP00000444824:S967C	.|ENSP00000279907:S1317C	L|S	-|-	1|2	2|0	UHRF1BP1L|UHRF1BP1L	98965874|98965874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	4.158000|4.158000	0.58150|0.58150	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	CTA|TCT	UHRF1BP1L	-	NULL		0.284	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	G	NM_001006947		100441743	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100441743	G	C	100441743	3	2	117	1	0	0	0	0	1	0	0	0	17000	942	33	1	460	1	UHRF1BP1L	12	100441743	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1421533	100441743	33410152	831	18299										
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100482793	100482793	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaaaatcattgaatagtttCacaattgcatcatttacatc	3	8	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100482793C>T	ENST00000279907.7	-	8	1133	c.921G>A	c.(919-921)gtG>gtA	p.V307V	UHRF1BP1L_ENST00000545232.2_5'UTR|UHRF1BP1L_ENST00000356828.3_Silent_p.V307V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	307										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGAATAGTTTCACAATTGCAT	0.368																																																	0													104	98	100					12																	100482793		2203	4300	6503	SO:0001819	synonymous_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.921G>A	12.37:g.100482793C>T			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	NULL	p.V307	ENST00000279907.7	37	c.921	CCDS31882.1	12																																																																																			UHRF1BP1L	-	NULL		0.368	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	C	NM_001006947		100482793	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	silent	SNP	0.989	T	T	100482793	C	T	100482793	2	4	117	1	0	0	0	0	0	0	0	1	17000	813	29	1		1	UHRF1BP1L	12	100482793	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	41050	100482793	33369102	832	18300										
SLC17A8	246213	genome.wustl.edu	37	chr12	100784871	100784871	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacaaattccaggtggtttCatttcaaacaagtttgctgc	7	9	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100784871C>T	ENST00000323346.5	+	3	760	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SLC17A8_ENST00000392989.3_Silent_p.F149F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	149					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.F149L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGGTGGTTTCATTTCAAACA	0.378																																																	1	Substitution - Missense(1)	lung(1)											110	111	111					12																	100784871		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.447C>T	12.37:g.100784871C>T			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F149	ENST00000323346.5	37	c.447	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.378	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100784871	1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100784871	C	T	100784871	2	4	117	1	0	0	0	0	0	0	0	1	14453	825	29	1		1	SLC17A8	12	100784871	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	302078	100784871	33067024	833	18301										
UTP20	27340	genome.wustl.edu	37	chr12	101684594	101684594	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgttaattggagaaacactCaaaaacatggtcaaatccac	6	8	2	1	rs148951374		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:101684594C>G	ENST00000261637.4	+	8	993	c.819C>G	c.(817-819)ctC>ctG	p.L273L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	273					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGAAACACTCAAAAACATGG	0.383																																																	0													158	142	147					12																	101684594		2203	4300	6503	SO:0001819	synonymous_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.819C>G	12.37:g.101684594C>G			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L273	ENST00000261637.4	37	c.819	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	C	NM_014503		101684594	1	no_errors	ENST00000261637	ensembl	human	known	70_37	silent	SNP	0.356	G	G	101684594	C	G	101684594	2	3	117	1	0	0	0	0	0	0	0	1	17130	813	29	1		1	UTP20	12	101684594	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	899723	101684594	32167301	834	18302										
GLT8D2	83468	genome.wustl.edu	37	chr12	104391268	104391268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtccaaatagatgactttctCgtgttggtggataagtagag	12	5	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:104391268C>T	ENST00000360814.4	-	7	853	c.448G>A	c.(448-450)Gag>Aag	p.E150K	GLT8D2_ENST00000546436.1_Missense_Mutation_p.E150K|GLT8D2_ENST00000548660.1_Missense_Mutation_p.E150K	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	150						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ATGACTTTCTCGTGTTGGTGG	0.403																																																	0													175	174	174					12																	104391268		2203	4300	6503	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.448G>A	12.37:g.104391268C>T	ENSP00000354053:p.Glu150Lys		Q96KA2	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E150K	ENST00000360814.4	37	c.448	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808935	0.31961	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.24538	1.85;1.85;1.85	5.39	5.39	0.77823	.	0.156965	0.56097	D	0.000028	T	0.12092	0.0294	N	0.04132	-0.27	0.80722	D	1	B	0.30104	0.268	B	0.21151	0.033	T	0.14144	-1.0483	10	0.07990	T	0.79	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	150	Q9H1C3	GL8D2_HUMAN	K	150	ENSP00000354053:E150K;ENSP00000449750:E150K;ENSP00000447450:E150K	ENSP00000354053:E150K	E	-	1	0	GLT8D2	102915398	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	4.860000	0.62961	2.521000	0.84997	0.557000	0.71058	GAG	GLT8D2	-	pfam_Glyco_trans_8		0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	C	NM_031302		104391268	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	missense	SNP	0.996	T	T	104391268	C	T	104391268	3	4	117	1	0	0	0	0	1	0	0	0	6489	893	31	1	621	1	GLT8D2	12	104391268	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2706674	104391268	29460627	835	18303										
CKAP4	10970	genome.wustl.edu	37	chr12	106633787	106633787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcccctcagattcttccaggGaggcaacctttgccttcatg	8	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:106633787G>A	ENST00000378026.4	-	2	960	c.824C>T	c.(823-825)tCc>tTc	p.S275F	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	275						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TTCTTCCAGGGAGGCAACCTT	0.498																																																	0													191	187	189					12																	106633787		2203	4300	6503	SO:0001583	missense	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.824C>T	12.37:g.106633787G>A	ENSP00000367265:p.Ser275Phe		Q504S5|Q53ES6	Missense_Mutation	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.S275F	ENST00000378026.4	37	c.824	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162760	0.38217	.	.	ENSG00000136026	ENST00000378026	D	0.81499	-1.5	5.8	4.89	0.63831	.	0.434763	0.27012	N	0.021375	D	0.88894	0.6561	M	0.76328	2.33	0.24790	N	0.992766	D	0.71674	0.998	D	0.66847	0.947	D	0.83673	0.0167	10	0.72032	D	0.01	-3.7772	16.6763	0.85280	0.0:0.1297:0.8703:0.0	.	275	Q07065	CKAP4_HUMAN	F	275	ENSP00000367265:S275F	ENSP00000367265:S275F	S	-	2	0	CKAP4	105157917	0.999000	0.42202	0.822000	0.32727	0.365000	0.29674	3.557000	0.53741	1.409000	0.46915	0.563000	0.77884	TCC	CKAP4	-	NULL		0.498	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	G			106633787	-1	no_errors	ENST00000378026	ensembl	human	known	70_37	missense	SNP	0.303	A	A	106633787	G	A	106633787	3	1	117	1	0	0	0	0	1	0	0	0	3449	1174	41	1	988	1	CKAP4	12	106633787	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2242519	106633787	27218108	836	18304										
WSCD2	9671	genome.wustl.edu	37	chr12	108603970	108603970	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagatccaggcgacgaacgtGagcgaggcagagtgcgacat	15	9	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:108603970G>C	ENST00000332082.4	+	5	1388	c.570G>C	c.(568-570)gtG>gtC	p.V190V	WSCD2_ENST00000547525.1_Silent_p.V190V|WSCD2_ENST00000261400.3_Silent_p.V190V|WSCD2_ENST00000549903.1_Silent_p.V190V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	190	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGACGAACGTGAGCGAGGCAG	0.667																																																	0													33	39	37					12																	108603970		2202	4295	6497	SO:0001819	synonymous_variant	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.570G>C	12.37:g.108603970G>C			B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.V190	ENST00000332082.4	37	c.570	CCDS41828.1	12																																																																																			WSCD2	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd		0.667	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108603970	1	no_errors	ENST00000261400	ensembl	human	known	70_37	silent	SNP	0.998	C	C	108603970	G	C	108603970	2	2	117	1	0	0	0	0	0	0	0	1	17438	1277	45	1		1	WSCD2	12	108603970	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1970183	108603970	25247925	837	18305										
RAD9B	144715	genome.wustl.edu	37	chr12	110959986	110959986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctattaatacctcaggtcaGatctgattgaaaaaaaggct	7	8	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:110959986G>A	ENST00000409778.3	+	8	712	c.688G>A	c.(688-690)Gat>Aat	p.D230N	RAD9B_ENST00000409425.1_Missense_Mutation_p.D227N|RAD9B_ENST00000409246.1_Missense_Mutation_p.D227N|RAD9B_ENST00000392672.4_Missense_Mutation_p.D299N|RAD9B_ENST00000409300.1_Missense_Mutation_p.D299N			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	296					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCTCAGGTCAGATCTGATTGA	0.358																																																	0													23	23	23					12																	110959986		2203	4297	6500	SO:0001583	missense	144715				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.688G>A	12.37:g.110959986G>A	ENSP00000386697:p.Asp230Asn		Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	pfam_Rad9/Ddc1,pirsf_Rad9	p.D299N	ENST00000409778.3	37	c.895		12	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626729	0.28978	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.22336	1.96;2.25;2.28;1.96;2.19	5.33	2.22	0.28083	.	0.542931	0.16309	N	0.220078	T	0.16214	0.0390	L	0.29908	0.895	0.24084	N	0.995938	P;B;B	0.40970	0.734;0.006;0.001	B;B;B	0.40329	0.326;0.002;0.0	T	0.11397	-1.0589	10	0.23302	T	0.38	-1.093	12.7805	0.57474	0.0:0.4768:0.5232:0.0	.	230;299;296	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	N	227;299;299;227;230	ENSP00000387329:D227N;ENSP00000376440:D299N;ENSP00000386434:D299N;ENSP00000386629:D227N;ENSP00000386697:D230N	ENSP00000376440:D299N	D	+	1	0	RAD9B	109444369	0.995000	0.38212	0.938000	0.37757	0.706000	0.40770	0.801000	0.27055	0.578000	0.29487	0.561000	0.74099	GAT	RAD9B	-	pirsf_Rad9		0.358	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1	G	NM_152442		110959986	1	no_errors	ENST00000392672	ensembl	human	known	70_37	missense	SNP	0.956	A	A	110959986	G	A	110959986	3	1	117	1	0	0	0	0	1	0	0	0	13026	942	33	1	933	1	RAD9B	12	110959986	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2356016	110959986	22891909	838	18306										
BRAP	8315	genome.wustl.edu	37	chr12	112119469	112119469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atataggtgcataataccatGaactatttcaactgatggat	7	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:112119469G>C	ENST00000327551.6	-	3	465	c.325C>G	c.(325-327)Cat>Gat	p.H109D	BRAP_ENST00000419234.4_Missense_Mutation_p.H139D|BRAP_ENST00000539060.1_5'UTR			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATAATACCATGAACTATTTCA	0.368																																					Pancreas(146;846 1904 7830 25130 26065)												0													119	115	117					12																	112119469		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.325C>G	12.37:g.112119469G>C	ENSP00000330813:p.His109Asp		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.H139D	ENST00000327551.6	37	c.415		12	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861488	0.71949	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.42513	0.97;0.98	6.08	6.08	0.98989	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.54827	-0.8235	10	0.28530	T	0.3	-19.1782	20.6647	0.99678	0.0:0.0:1.0:0.0	.	139	Q7Z569	BRAP_HUMAN	D	139;109	ENSP00000403524:H139D;ENSP00000330813:H109D	ENSP00000330813:H109D	H	-	1	0	BRAP	110603852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.890000	0.99128	0.655000	0.94253	CAT	BRAP	-	NULL		0.368	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	G			112119469	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112119469	G	C	112119469	3	2	117	1	0	0	0	0	1	0	0	0	1500	1290	45	1	1403	1	BRAP	12	112119469	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1159483	112119469	21732426	839	18307										
NAA25	80018	genome.wustl.edu	37	chr12	112492280	112492280	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acccagcatacagtagattcGaacaagcagcaatttgaact	7	10	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:112492280G>A	ENST00000261745.4	-	14	1788	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	514						cytoplasm (GO:0005737)		p.R514*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGTAGATTCGAACAAGCAGC	0.478																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											132	110	117					12																	112492280		2203	4300	6503	SO:0001587	stop_gained	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1540C>T	12.37:g.112492280G>A	ENSP00000261745:p.Arg514*		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.R514*	ENST00000261745.4	37	c.1540	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.063590	0.98635	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.5	4.59	0.56863	.	0.074422	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4957	15.4288	0.75075	0.0:0.0:0.8598:0.1401	.	.	.	.	X	514	.	ENSP00000261745:R514X	R	-	1	2	NAA25	110976663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.318000	0.96334	1.273000	0.44346	0.655000	0.94253	CGA	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.478	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	G	NM_024953		112492280	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	112492280	G	A	112492280	4	1	117	1	0	0	0	0	0	1	0	0	10144	1066	37	1	1422	1	NAA25	12	112492280	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	372811	112492280	21359615	840	18308										
RPL6	6128	genome.wustl.edu	37	chr12	112843702	112843702	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttcctggtgtctgggcttCcgcagcttcttcttcttgaa	9	13	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:112843702C>T	ENST00000424576.2	-	6	854	c.669G>A	c.(667-669)cgG>cgA	p.R223R	RPL6_ENST00000202773.9_Silent_p.R223R	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	223					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GTCTGGGCTTCCGCAGCTTCT	0.433																																																	0													82	90	87					12																	112843702		2201	4297	6498	SO:0001819	synonymous_variant	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.669G>A	12.37:g.112843702C>T			Q2M3Q3|Q8WW97	Silent	SNP	pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.R223	ENST00000424576.2	37	c.669	CCDS9162.1	12																																																																																			RPL6	-	pfam_Ribosomal_L6E,superfamily_Translation_prot_SH3-like		0.433	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1	C			112843702	-1	no_errors	ENST00000202773	ensembl	human	known	70_37	silent	SNP	0.997	T	T	112843702	C	T	112843702	2	4	117	1	0	0	0	0	0	0	0	1	13628	842	30	1		1	RPL6	12	112843702	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	351422	112843702	21008193	841	18309										
OAS2	4939	genome.wustl.edu	37	chr12	113442962	113442962	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcccagggtgctgagcttctCtctgaaatccaaagtcctca	8	13	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:113442962C>G	ENST00000342315.4	+	7	1617	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.S468C	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	468	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGAGCTTCTCTCTGAAATCC	0.512																																					Pancreas(199;709 2232 18410 33584 35052)												0													88	74	79					12																	113442962		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1403C>G	12.37:g.113442962C>G	ENSP00000342278:p.Ser468Cys		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.S468C	ENST00000342315.4	37	c.1403	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	10.90	1.482468	0.26598	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08546	3.08;3.08	4.43	3.49	0.39957	.	0.724482	0.11695	N	0.538506	T	0.22244	0.0536	L	0.59436	1.845	0.19775	N	0.999958	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.934	T	0.05257	-1.0896	10	0.66056	D	0.02	-28.6494	9.4334	0.38624	0.2124:0.7876:0.0:0.0	.	468;468	P29728;P29728-2	OAS2_HUMAN;.	C	468	ENSP00000342278:S468C;ENSP00000376362:S468C	ENSP00000342278:S468C	S	+	2	0	OAS2	111927345	0.068000	0.21057	0.008000	0.14137	0.139000	0.21198	1.592000	0.36676	1.137000	0.42214	0.655000	0.94253	TCT	OAS2	-	NULL		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	C			113442962	1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.011	G	G	113442962	C	G	113442962	3	3	117	1	0	0	0	0	1	0	0	0	10824	913	32	1	1500	1	OAS2	12	113442962	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	599260	113442962	20408933	842	18310										
DTX1	1840	genome.wustl.edu	37	chr12	113531867	113531867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaatcccgaggatgtggttcGaagatacatgcagaaggtga	14	6	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:113531867G>T	ENST00000257600.3	+	5	1693	c.1190G>T	c.(1189-1191)cGa>cTa	p.R397L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	397					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GATGTGGTTCGAAGATACATG	0.617																																																	0													30	26	27					12																	113531867		2199	4290	6489	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1190G>T	12.37:g.113531867G>T	ENSP00000257600:p.Arg397Leu		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.R397L	ENST00000257600.3	37	c.1190	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974653	0.53720	.	.	ENSG00000135144	ENST00000257600	T	0.66638	-0.22	3.74	2.84	0.33178	.	0.208086	0.39834	N	0.001256	T	0.53850	0.1822	L	0.29908	0.895	0.41857	D	0.990209	B	0.24317	0.101	B	0.27796	0.083	T	0.55153	-0.8185	10	0.72032	D	0.01	-3.9242	10.7299	0.46089	0.1019:0.0:0.8981:0.0	.	397	Q86Y01	DTX1_HUMAN	L	397	ENSP00000257600:R397L	ENSP00000257600:R397L	R	+	2	0	DTX1	112016250	0.996000	0.38824	0.978000	0.43139	0.982000	0.71751	3.851000	0.55926	0.845000	0.35118	0.462000	0.41574	CGA	DTX1	-	NULL		0.617	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	G			113531867	1	no_errors	ENST00000257600	ensembl	human	known	70_37	missense	SNP	0.903	T	T	113531867	G	T	113531867	3	4	117	1	0	0	0	0	1	0	0	0	4803	1058	37	3	1208	3	DTX1	12	113531867	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	88905	113531867	20320028	843	18311										
TAOK3	51347	genome.wustl.edu	37	chr12	118597971	118597971	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgcttgagaggccatcatttCatttatactctgttcatact	6	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:118597971C>G	ENST00000392533.3	-	19	2822	c.2332G>C	c.(2332-2334)Gaa>Caa	p.E778Q	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.E318Q|TAOK3_ENST00000419821.2_Missense_Mutation_p.E778Q	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	778					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCATCATTTCATTTATACTC	0.428																																																	0													252	226	235					12																	118597971		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2332G>C	12.37:g.118597971C>G	ENSP00000376317:p.Glu778Gln		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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.E778Q	ENST00000392533.3	37	c.2332	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.227891	0.95173	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.73897	-0.79;-0.79;1.24	5.29	5.29	0.74685	.	0.247105	0.39759	N	0.001279	D	0.82430	0.5035	M	0.74647	2.275	0.58432	D	0.999999	P	0.50156	0.932	P	0.51615	0.675	D	0.84515	0.0624	10	0.72032	D	0.01	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	778	Q9H2K8	TAOK3_HUMAN	Q	778;778;318	ENSP00000416374:E778Q;ENSP00000376317:E778Q;ENSP00000443834:E318Q	ENSP00000376317:E778Q	E	-	1	0	TAOK3	117082354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.609000	0.82925	2.752000	0.94435	0.557000	0.71058	GAA	TAOK3	-	NULL		0.428	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	C	NM_016281		118597971	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118597971	C	G	118597971	3	3	117	1	0	0	0	0	1	0	0	0	15579	835	29	1	376	1	TAOK3	12	118597971	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5066104	118597971	15253924	844	18312										
TAOK3	51347	genome.wustl.edu	37	chr12	118598015	118598015	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgccaaaatggcaagttttCttgtctgctcatctttcagt	7	10	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:118598015C>G	ENST00000392533.3	-	19	2778	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.R303T|TAOK3_ENST00000419821.2_Missense_Mutation_p.R763T	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	763					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAAGTTTTCTTGTCTGCTC	0.423																																																	0													304	268	280					12																	118598015		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2288G>C	12.37:g.118598015C>G	ENSP00000376317:p.Arg763Thr		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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.R763T	ENST00000392533.3	37	c.2288	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774627	0.90108	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.76578	-1.03;-1.03;1.01	5.29	5.29	0.74685	.	0.109633	0.64402	D	0.000008	D	0.87265	0.6134	M	0.80616	2.505	0.80722	D	1	D	0.55385	0.971	P	0.58130	0.833	D	0.88663	0.3190	10	0.87932	D	0	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	763	Q9H2K8	TAOK3_HUMAN	T	763;763;303	ENSP00000416374:R763T;ENSP00000376317:R763T;ENSP00000443834:R303T	ENSP00000376317:R763T	R	-	2	0	TAOK3	117082398	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.609000	0.82925	2.752000	0.94435	0.557000	0.71058	AGA	TAOK3	-	NULL		0.423	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	C	NM_016281		118598015	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118598015	C	G	118598015	3	3	117	1	0	0	0	0	1	0	0	0	15579	913	32	1	420	1	TAOK3	12	118598015	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	44	118598015	15253880	845	18313										
CCDC60	160777	genome.wustl.edu	37	chr12	119961580	119961580	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agttttacagcgtagcccagGaggctggcttctgcctgcag	13	11	1	0	rs562474676		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:119961580G>C	ENST00000327554.2	+	11	1651	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	396										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CGTAGCCCAGGAGGCTGGCTT	0.463																																																	0													103	84	90					12																	119961580		2203	4300	6503	SO:0001583	missense	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1186G>C	12.37:g.119961580G>C	ENSP00000333374:p.Glu396Gln			Missense_Mutation	SNP	NULL	p.E396Q	ENST00000327554.2	37	c.1186	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316230	0.60524	.	.	ENSG00000183273	ENST00000327554	T	0.34275	1.37	4.16	4.16	0.48862	.	0.000000	0.51477	D	0.000084	T	0.57388	0.2050	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59456	-0.7451	9	.	.	.	-29.7369	11.8272	0.52273	0.0:0.0:1.0:0.0	.	396	Q8IWA6	CCD60_HUMAN	Q	396	ENSP00000333374:E396Q	.	E	+	1	0	CCDC60	118445963	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.100000	0.57762	2.156000	0.67533	0.655000	0.94253	GAG	CCDC60	-	NULL		0.463	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	G	NM_178499		119961580	1	no_errors	ENST00000327554	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119961580	G	C	119961580	3	2	117	1	0	0	0	0	1	0	0	0	2836	1175	41	1	1228	1	CCDC60	12	119961580	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1363565	119961580	13890315	846	18314										
P2RX4	5025	genome.wustl.edu	37	chr12	121647982	121647982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcggccatggcgggctgctgCgccgcgctggcggccttcct	17	16	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:121647982C>T	ENST00000337233.4	+	1	323	c.15C>T	c.(13-15)tgC>tgT	p.C5C	P2RX4_ENST00000359949.7_Silent_p.C5C|P2RX4_ENST00000541532.1_Silent_p.C5C|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_5'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	5					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGCTGCTGCGCCGCGCTGG	0.726																																																	0													8	9	9					12																	121647982		2093	4149	6242	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.15C>T	12.37:g.121647982C>T			E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	p.C5	ENST00000337233.4	37	c.15	CCDS9214.1	12																																																																																			P2RX4	-	prints_P2X4_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor		0.726	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX4	HGNC	protein_coding	OTTHUMT00000402545.1	C	NM_175567		121647982	1	no_errors	ENST00000337233	ensembl	human	known	70_37	silent	SNP	0.554	T	T	121647982	C	T	121647982	2	4	117	1	0	0	0	0	0	0	0	1	11366	776	27	2		2	P2RX4	12	121647982	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1686402	121647982	12203913	847	18315										
LRRC43	254050	genome.wustl.edu	37	chr12	122685407	122685407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggagcccctgctcgccgggGagcccctggtgtccaccgtg	15	16	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:122685407G>A	ENST00000339777.4	+	10	1763	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.E394K|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	579										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCTCGCCGGGGAGCCCCTGGT	0.667																																																	0													28	35	33					12																	122685407		2008	4155	6163	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1735G>A	12.37:g.122685407G>A	ENSP00000344233:p.Glu579Lys		Q6ZVT9	Missense_Mutation	SNP	NULL	p.E579K	ENST00000339777.4	37	c.1735	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849497	0.71603	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.65916	-0.18;0.31	5.31	5.31	0.75309	.	0.207655	0.40728	N	0.001022	T	0.78323	0.4265	M	0.76328	2.33	0.33904	D	0.638821	D	0.71674	0.998	D	0.66979	0.948	D	0.85420	0.1142	10	0.72032	D	0.01	-23.7338	16.815	0.85732	0.0:0.0:1.0:0.0	.	579	Q8N309	LRC43_HUMAN	K	579;450;394	ENSP00000344233:E579K;ENSP00000416628:E394K	ENSP00000289014:E450K	E	+	1	0	LRRC43	121251360	1.000000	0.71417	0.995000	0.50966	0.084000	0.17831	4.416000	0.59815	2.493000	0.84123	0.650000	0.86243	GAG	LRRC43	-	NULL		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	G	NM_152759		122685407	1	no_errors	ENST00000339777	ensembl	human	known	70_37	missense	SNP	0.999	A	A	122685407	G	A	122685407	3	1	117	1	0	0	0	0	1	0	0	0	9024	1175	41	1	1773	1	LRRC43	12	122685407	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1037425	122685407	11166488	848	18316										
DHX37	57647	genome.wustl.edu	37	chr12	125438697	125438697	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgcccaggtcctcttcatCtgggccacccgggcccgctt	10	19	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:125438697C>A	ENST00000308736.2	-	19	2612	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H	DHX37_ENST00000544745.1_Missense_Mutation_p.Q625H	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	838							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCCTCTTCATCTGGGCCACCC	0.657																																																	0													32	38	36					12																	125438697		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2514G>T	12.37:g.125438697C>A	ENSP00000311135:p.Gln838His		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q838H	ENST00000308736.2	37	c.2514	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473310	0.43942	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02709	4.19;4.19	5.33	3.44	0.39384	Helicase-associated domain (2);	0.051439	0.85682	N	0.000000	T	0.06142	0.0159	M	0.74647	2.275	0.46396	D	0.999026	B	0.30563	0.285	B	0.34242	0.178	T	0.13710	-1.0499	10	0.42905	T	0.14	0.0745	12.0894	0.53717	0.1365:0.7323:0.1312:0.0	.	838	Q8IY37	DHX37_HUMAN	H	838;625	ENSP00000311135:Q838H;ENSP00000439009:Q625H	ENSP00000311135:Q838H	Q	-	3	2	DHX37	124004650	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.283000	0.33237	0.576000	0.29452	0.455000	0.32223	CAG	DHX37	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		C	NM_032656		125438697	-1	no_errors	ENST00000308736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125438697	C	A	125438697	3	1	117	1	0	0	0	0	1	0	0	0	4520	912	32	3	995	3	DHX37	12	125438697	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2753290	125438697	8413198	849	18317										
GPR133	283383	genome.wustl.edu	37	chr12	131476909	131476909	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttacccagtaagtccctctCggagcagacagccttgaatc	8	14	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:131476909C>G	ENST00000261654.5	+	8	1497	c.938C>G	c.(937-939)tCg>tGg	p.S313W	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S345W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	313					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTCCCTCTCGGAGCAGACA	0.493																																																	0													125	121	122					12																	131476909		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.938C>G	12.37:g.131476909C>G	ENSP00000261654:p.Ser313Trp		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S313W	ENST00000261654.5	37	c.938	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984436	0.74474	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.53640	0.62;0.61	5.47	5.47	0.80525	.	0.158955	0.43919	D	0.000508	T	0.66587	0.2804	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.957	T	0.68591	-0.5368	10	0.87932	D	0	.	17.9001	0.88901	0.0:1.0:0.0:0.0	.	345;313	B7ZLF7;Q6QNK2	.;GP133_HUMAN	W	313;345	ENSP00000261654:S313W;ENSP00000444425:S345W	ENSP00000261654:S313W	S	+	2	0	GPR133	130042862	0.664000	0.27457	0.099000	0.21106	0.054000	0.15201	2.135000	0.42112	2.577000	0.86979	0.655000	0.94253	TCG	GPR133	-	NULL		0.493	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	C	NM_198827		131476909	1	no_errors	ENST00000261654	ensembl	human	known	70_37	missense	SNP	0.905	G	G	131476909	C	G	131476909	3	3	117	1	0	0	0	0	1	0	0	0	6662	893	31	1	968	1	GPR133	12	131476909	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6038212	131476909	2374986	850	18318										
EP400	57634	genome.wustl.edu	37	chr12	132445647	132445647	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctggccctgggctgggcctCtgcagcagcagccctacagg	14	16	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:132445647C>T	ENST00000333577.4	+	2	592	c.483C>T	c.(481-483)ctC>ctT	p.L161L	EP400_ENST00000389562.2_Silent_p.L161L|EP400_ENST00000389561.2_Silent_p.L161L|EP400_ENST00000330386.6_Silent_p.L161L|EP400_ENST00000332482.4_Silent_p.L161L			Q96L91	EP400_HUMAN	E1A binding protein p400	161					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L161L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCTGGGCCTCTGCAGCAGCA	0.667																																																	1	Substitution - coding silent(1)	lung(1)											31	27	28					12																	132445647		2202	4298	6500	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.483C>T	12.37:g.132445647C>T			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L161	ENST00000333577.4	37	c.483		12																																																																																			EP400	-	NULL		0.667	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132445647	1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.223	T	T	132445647	C	T	132445647	2	4	117	1	0	0	0	0	0	0	0	1	5161	900	32	1		1	EP400	12	132445647	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	968738	132445647	1406248	851	18319										
TUBA3C	7278	genome.wustl.edu	37	chr13	19753560	19753560	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtctcactgaagaacgtgttGaaggagtcgtccccaccacc	10	13	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:19753560G>C	ENST00000400113.3	-	2	251	c.147C>G	c.(145-147)ttC>ttG	p.F49L	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	49					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGAACGTGTTGAAGGAGTCGT	0.562																																																	0													209	170	183					13																	19753560		2203	4300	6503	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.147C>G	13.37:g.19753560G>C	ENSP00000382982:p.Phe49Leu		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.F49L	ENST00000400113.3	37	c.147	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	6.857	0.527413	0.13066	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.66815	-0.23	1.37	1.37	0.22104	.	0.000000	0.49916	U	0.000129	T	0.65964	0.2742	.	.	.	0.38823	D	0.955682	.	.	.	.	.	.	T	0.67284	-0.5709	7	0.87932	D	0	.	3.7313	0.08493	0.2397:0.0:0.7603:0.0	.	.	.	.	L	49	ENSP00000382982:F49L	ENSP00000354037:F49L	F	-	3	2	TUBA3C	18651560	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.678000	0.46900	1.070000	0.40811	0.194000	0.17425	TTC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	G	NM_006001		19753560	-1	no_errors	ENST00000400113	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19753560	G	C	19753560	3	2	117	1	0	0	0	0	1	0	0	0	16777	1281	45	1	1221	1	TUBA3C	13	19753560	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		19753560	95416318	852	18320										
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20224391	20224391	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagcgtgtgccaagcagatGagaattcaggtgagtttgga	14	6	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:20224391G>A	ENST00000361479.5	+	5	1635	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E523K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	523					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCAAGCAGATGAGAATTCAGG	0.403																																																	0													140	121	128					13																	20224391		2203	4300	6503	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1567G>A	13.37:g.20224391G>A	ENSP00000355388:p.Glu523Lys		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.E523K	ENST00000361479.5	37	c.1567	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082446	0.55861	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34275	1.38;1.37	5.66	5.66	0.87406	.	0.566396	0.18260	N	0.146665	T	0.50803	0.1637	L	0.43152	1.355	0.40360	D	0.979234	D;B;B	0.69078	0.997;0.15;0.383	D;B;B	0.66196	0.942;0.046;0.116	T	0.21655	-1.0239	10	0.11794	T	0.64	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	523;523;523	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	K	523	ENSP00000414663:E523K;ENSP00000355388:E523K	ENSP00000355388:E523K	E	+	1	0	MPHOSPH8	19122391	1.000000	0.71417	0.116000	0.21606	0.025000	0.11179	3.331000	0.52075	2.830000	0.97506	0.585000	0.79938	GAG	MPHOSPH8	-	NULL		0.403	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	G	NM_017520		20224391	1	no_errors	ENST00000414242	ensembl	human	known	70_37	missense	SNP	0.895	A	A	20224391	G	A	20224391	3	1	117	1	0	0	0	0	1	0	0	0	9750	1291	45	1	1585	1	MPHOSPH8	13	20224391	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	470831	20224391	94945487	853	18321										
CRYL1	51084	genome.wustl.edu	37	chr13	21006309	21006309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagaacgaagccggccacctCcttctggactcgcatggggc	12	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:21006309C>T	ENST00000298248.7	-	5	627	c.565G>A	c.(565-567)Gag>Aag	p.E189K	MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000382812.1_Missense_Mutation_p.E167K|CRYL1_ENST00000480748.1_5'UTR	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	189					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCGGCCACCTCCTTCTGGACT	0.627																																																	0													66	73	71					13																	21006309		2068	4192	6260	SO:0001583	missense	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.565G>A	13.37:g.21006309C>T	ENSP00000298248:p.Glu189Lys		A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.E189K	ENST00000298248.7	37	c.565	CCDS41871.1	13	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166413	0.78339	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.78003	-1.14;-1.14	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, conserved site (1);NAD(P)-binding domain (1);	0.098834	0.64402	D	0.000002	D	0.92283	0.7552	H	0.95950	3.745	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.954	D	0.94462	0.7677	10	0.87932	D	0	-32.9513	19.239	0.93875	0.0:1.0:0.0:0.0	.	63;189	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	K	189;167	ENSP00000298248:E189K;ENSP00000372262:E167K	ENSP00000298248:E189K	E	-	1	0	CRYL1	19904309	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	6.493000	0.73658	2.533000	0.85409	0.491000	0.48974	GAG	CRYL1	-	NULL		0.627	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1	C	NM_015974		21006309	-1	no_errors	ENST00000298248	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21006309	C	T	21006309	3	4	117	1	0	0	0	0	1	0	0	0	3925	864	30	1	410	1	CRYL1	13	21006309	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	781918	21006309	94163569	854	18322										
SACS	26278	genome.wustl.edu	37	chr13	23913856	23913856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttcatgataagtttagaagGatttttgctatgatgtatag	9	3	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:23913856G>A	ENST00000382292.3	-	9	4432	c.4159C>T	c.(4159-4161)Cct>Tct	p.P1387S	SACS_ENST00000382298.3_Missense_Mutation_p.P1387S|SACS_ENST00000402364.1_Missense_Mutation_p.P637S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1387					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGTTTAGAAGGATTTTTGCTA	0.353																																																	0													175	171	172					13																	23913856		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4159C>T	13.37:g.23913856G>A	ENSP00000371729:p.Pro1387Ser		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.P1387S	ENST00000382292.3	37	c.4159	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522434	0.27211	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-1.99;-2.13;-1.99	6.06	4.33	0.51752	.	0.052646	0.85682	D	0.000000	T	0.75206	0.3818	L	0.28274	0.84	0.43852	D	0.996446	P	0.40000	0.698	B	0.32980	0.156	T	0.70063	-0.4975	10	0.15499	T	0.54	.	11.4837	0.50342	0.0644:0.0:0.8091:0.1265	.	1387	Q9NZJ4	SACS_HUMAN	S	1387;637;1387	ENSP00000371729:P1387S;ENSP00000385844:P637S;ENSP00000371735:P1387S	ENSP00000371729:P1387S	P	-	1	0	SACS	22811856	1.000000	0.71417	0.827000	0.32855	0.945000	0.59286	6.408000	0.73285	0.896000	0.36366	-0.142000	0.14014	CCT	SACS	-	NULL		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23913856	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	0.997	A	A	23913856	G	A	23913856	3	1	117	1	0	0	0	0	1	0	0	0	13834	1174	41	1	9584	1	SACS	13	23913856	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2907547	23913856	91256022	855	18323										
FLT3	2322	genome.wustl.edu	37	chr13	28631600	28631600	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgaccatggaaacaactcctCtgcaaaacaggaaagagaac	8	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:28631600C>T	ENST00000241453.7	-	4	450		c.e4-1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAACTCCTCTGCAAAACAG	0.353			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													76	78	78					13																	28631600		2203	4300	6503	SO:0001630	splice_region_variant	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.369-1G>A	13.37:g.28631600C>T			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	-	e4-1	ENST00000241453.7	37	c.369-1	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006954	0.74932	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9084	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27529600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.672000	0.61597	2.659000	0.90383	0.561000	0.74099	.	FLT3	-	-		0.353	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	C		Intron	28631600	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	28631600	C	T	28631600	5	4	117	1	0	0	0	0	0	0	1	0	5960	927	32	1	2697	1	FLT3	13	28631600	Splice_Site	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4717744	28631600	86538278	856	18324										
FRY	10129	genome.wustl.edu	37	chr13	32863860	32863860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctcatcggccaggtgcacGaagttagctccatgccagag	12	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:32863860G>A	ENST00000380250.3	+	59	9056	c.8560G>A	c.(8560-8562)Gaa>Aaa	p.E2854K	FRY_ENST00000542859.1_Missense_Mutation_p.E224K|FRY_ENST00000380217.1_Missense_Mutation_p.E36K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2854						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAGGTGCACGAAGTTAGCTC	0.468																																																	0													85	82	83					13																	32863860		2004	4176	6180	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8560G>A	13.37:g.32863860G>A	ENSP00000369600:p.Glu2854Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2854K	ENST00000380250.3	37	c.8560	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467989	0.84533	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	T	0.22134	1.97	5.69	5.69	0.88448	.	0.103882	0.64402	D	0.000004	T	0.20495	0.0493	L	0.44542	1.39	0.52501	D	0.999955	P	0.38729	0.644	B	0.28849	0.095	T	0.02464	-1.1155	10	0.62326	D	0.03	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	2854	Q5TBA9	FRY_HUMAN	K	2854;224;36	ENSP00000369600:E2854K	ENSP00000369565:E36K	E	+	1	0	FRY	31761860	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	6.563000	0.73964	2.840000	0.97914	0.655000	0.94253	GAA	FRY	-	NULL		0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32863860	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32863860	G	A	32863860	3	1	117	1	0	0	0	0	1	0	0	0	6081	1059	37	1	8794	1	FRY	13	32863860	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4232260	32863860	82306018	857	18325										
NAA16	79612	genome.wustl.edu	37	chr13	41947823	41947823	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgagcaaagttctatctcaaGaaatgcagaaaatatttgtc	7	6	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:41947823G>A	ENST00000379406.3	+	18	2530	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	736					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCTATCTCAAGAAATGCAGAA	0.313																																																	0													93	101	98					13																	41947823		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2206G>A	13.37:g.41947823G>A	ENSP00000368716:p.Glu736Lys		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E736K	ENST00000379406.3	37	c.2206	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.333497	0.95758	.	.	ENSG00000172766	ENST00000379406	T	0.50001	0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.75777	2.31	0.80722	D	1	P	0.47841	0.901	P	0.48304	0.573	T	0.54132	-0.8339	10	0.21540	T	0.41	-19.6052	19.9584	0.97232	0.0:0.0:1.0:0.0	.	736	Q6N069	NAA16_HUMAN	K	736	ENSP00000368716:E736K	ENSP00000368716:E736K	E	+	1	0	NAA16	40845823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.890000	0.87313	2.717000	0.92951	0.655000	0.94253	GAA	NAA16	-	pirsf_NatA_aux_su		0.313	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	G	NM_018527		41947823	1	no_errors	ENST00000379406	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41947823	G	A	41947823	3	1	117	1	0	0	0	0	1	0	0	0	10142	943	33	1	2309	1	NAA16	13	41947823	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9083963	41947823	73222055	858	18326										
AKAP11	11215	genome.wustl.edu	37	chr13	42877015	42877015	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcctaccgatctgttaaatCaggattacaggaagcagcta	9	9	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:42877015C>A	ENST00000025301.2	+	8	4308	c.4133C>A	c.(4132-4134)tCa>tAa	p.S1378*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1378					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCTGTTAAATCAGGATTACAG	0.408																																																	0													76	71	73					13																	42877015		2203	4300	6503	SO:0001587	stop_gained	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4133C>A	13.37:g.42877015C>A	ENSP00000025301:p.Ser1378*		O75124|Q9NUK7	Nonsense_Mutation	SNP	NULL	p.S1378*	ENST00000025301.2	37	c.4133	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.751877	0.99461	.	.	ENSG00000023516	ENST00000025301	.	.	.	6.16	6.16	0.99307	.	0.197613	0.35739	N	0.003004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000025301:S1378X	S	+	2	0	AKAP11	41775015	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	4.534000	0.60622	2.937000	0.99478	0.650000	0.86243	TCA	AKAP11	-	NULL		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	C	NM_016248		42877015	1	no_errors	ENST00000025301	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	42877015	C	A	42877015	4	1	117	1	0	0	0	0	0	1	0	0	447	838	29	3	4155	3	AKAP11	13	42877015	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	929192	42877015	72292863	859	18327										
SPERT	220082	genome.wustl.edu	37	chr13	46288084	46288084	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccggcctctcctcccgcttCgaggagcccaaagggcctcc	10	19	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:46288084C>T	ENST00000310521.1	+	3	1004	c.924C>T	c.(922-924)ttC>ttT	p.F308F	SPERT_ENST00000378966.3_Silent_p.F272F	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	308						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTCCCGCTTCGAGGAGCCCA	0.731																																																	0													3	4	4					13																	46288084		1820	3524	5344	SO:0001819	synonymous_variant	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.924C>T	13.37:g.46288084C>T			A8K8I5|Q8NHV2	Silent	SNP	NULL	p.F308	ENST00000310521.1	37	c.924	CCDS9399.1	13																																																																																			SPERT	-	NULL		0.731	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPERT	HGNC	protein_coding	OTTHUMT00000044786.2	C	NM_152719		46288084	1	no_errors	ENST00000310521	ensembl	human	known	70_37	silent	SNP	0.044	T	T	46288084	C	T	46288084	2	4	117	1	0	0	0	0	0	0	0	1	15069	883	31	1		1	SPERT	13	46288084	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3411069	46288084	68881794	860	18328										
RB1	5925	genome.wustl.edu	37	chr13	48923137	48923137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggtgctaaaagtttcttgGatcacatttttattagctaa	7	5	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:48923137G>T	ENST00000267163.4	+	6	723	c.585G>T	c.(583-585)tgG>tgT	p.W195C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	195					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.W195*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGTTTCTTGGATCACATTTT	0.264		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	22	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(1)	bone(11)|breast(7)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											65	71	69					13																	48923137		2199	4280	6479	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.585G>T	13.37:g.48923137G>T	ENSP00000267163:p.Trp195Cys		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.W195C	ENST00000267163.4	37	c.585	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488684	0.64074	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.97710	-4.5	5.23	5.23	0.72850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.87932	D	0	.	14.6514	0.68800	0.0:0.0:1.0:0.0	.	195	P06400	RB_HUMAN	C	174;195	ENSP00000267163:W195C	ENSP00000267163:W195C	W	+	3	0	RB1	47821138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.585000	0.67497	2.613000	0.88420	0.650000	0.86243	TGG	RB1	-	pfam_DUF3452_retinoblatoma-assoc		0.264	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			48923137	1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48923137	G	T	48923137	3	4	117	1	0	0	0	0	1	0	0	0	13128	1183	41	3	607	3	RB1	13	48923137	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2635053	48923137	66246741	861	18329										
ARL11	115761	genome.wustl.edu	37	chr13	50204667	50204667	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcggcgggcaagaccacgctCctttacaagctgaagggcca	12	13	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:50204667C>T	ENST00000282026.1	+	2	419	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	28					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGACCACGCTCCTTTACAAGC	0.587																																																	0													63	65	64					13																	50204667		2203	4300	6503	SO:0001819	synonymous_variant	115761			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.84C>T	13.37:g.50204667C>T				Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.L28	ENST00000282026.1	37	c.84	CCDS9419.1	13																																																																																			ARL11	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.587	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL11	HGNC	protein_coding	OTTHUMT00000044929.2	C	NM_138450		50204667	1	no_errors	ENST00000282026	ensembl	human	known	70_37	silent	SNP	0.967	T	T	50204667	C	T	50204667	2	4	117	1	0	0	0	0	0	0	0	1	927	842	30	1		1	ARL11	13	50204667	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1281530	50204667	64965211	862	18330										
KPNA3	3839	genome.wustl.edu	37	chr13	50285123	50285123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgttcattacctccatctgtCaagtatgacagagcccaaac	6	12	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:50285123C>G	ENST00000261667.3	-	11	1221	c.807G>C	c.(805-807)ttG>ttC	p.L269F		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	269					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTCCATCTGTCAAGTATGACA	0.383																																																	0													75	66	69					13																	50285123		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.807G>C	13.37:g.50285123C>G	ENSP00000261667:p.Leu269Phe		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.L269F	ENST00000261667.3	37	c.807	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245410	0.80024	.	.	ENSG00000102753	ENST00000261667	D	0.82893	-1.66	5.84	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91634	0.5321	10	0.87932	D	0	-5.3644	3.8544	0.08968	0.0:0.6756:0.0:0.3244	.	269	O00505	IMA3_HUMAN	F	269	ENSP00000261667:L269F	ENSP00000261667:L269F	L	-	3	2	KPNA3	49183124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.674000	0.37544	2.763000	0.94921	0.557000	0.71058	TTG	KPNA3	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.383	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	C	NM_002267		50285123	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50285123	C	G	50285123	3	3	117	1	0	0	0	0	1	0	0	0	8451	825	29	1	786	1	KPNA3	13	50285123	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	80456	50285123	64884755	863	18331										
CKAP2	26586	genome.wustl.edu	37	chr13	53030687	53030687	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacaaaaactcaaggaacatCtgttgagaagaaaaacgctt	8	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:53030687C>G	ENST00000378037.5	+	2	190	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V	CKAP2_ENST00000490903.1_5'UTR|CKAP2_ENST00000258607.5_Missense_Mutation_p.L34V|CKAP2_ENST00000378034.3_Missense_Mutation_p.L34V	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAAGGAACATCTGTTGAGAAG	0.328																																																	0													112	112	112					13																	53030687		2203	4299	6502	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.100C>G	13.37:g.53030687C>G	ENSP00000367276:p.Leu34Val			Missense_Mutation	SNP	NULL	p.L34V	ENST00000378037.5	37	c.100	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251066	0.22880	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037	T;T;T	0.31510	1.49;1.49;1.49	5.29	2.56	0.30785	.	0.133504	0.34200	N	0.004161	T	0.39200	0.1069	M	0.71581	2.175	0.53005	D	0.999966	B;P;B	0.45957	0.042;0.869;0.421	B;P;B	0.50162	0.084;0.633;0.169	T	0.15838	-1.0423	10	0.72032	D	0.01	-0.173	7.0542	0.25089	0.3062:0.6134:0.0:0.0804	.	34;34;34	Q8WWK9;B2RMQ4;A8MYU4	CKAP2_HUMAN;.;.	V	34	ENSP00000258607:L34V;ENSP00000367273:L34V;ENSP00000367276:L34V	ENSP00000258607:L34V	L	+	1	2	CKAP2	51928688	0.687000	0.27671	0.035000	0.18076	0.359000	0.29487	0.517000	0.22832	0.286000	0.22352	-0.321000	0.08615	CTG	CKAP2	-	NULL		0.328	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	C			53030687	1	no_errors	ENST00000378037	ensembl	human	known	70_37	missense	SNP	0.723	G	G	53030687	C	G	53030687	3	3	117	1	0	0	0	0	1	0	0	0	3447	912	32	1	106	1	CKAP2	13	53030687	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2745564	53030687	62139191	864	18332										
TDRD3	81550	genome.wustl.edu	37	chr13	61041493	61041493	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgaagtggaacaccttattGagaaatgggagttacagaga	13	4	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:61041493G>A	ENST00000196169.3	+	5	984	c.196G>A	c.(196-198)Gag>Aag	p.E66K	TDRD3_ENST00000377881.2_Missense_Mutation_p.E66K|TDRD3_ENST00000535286.1_Missense_Mutation_p.E159K|TDRD3_ENST00000377894.2_Missense_Mutation_p.E66K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	66					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACACCTTATTGAGAAATGGGA	0.353																																					Colon(36;164 906 35820 50723)												0													125	116	119					13																	61041493		2203	4300	6503	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.196G>A	13.37:g.61041493G>A	ENSP00000196169:p.Glu66Lys		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.E159K	ENST00000196169.3	37	c.475	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027445	0.75390	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.56	5.56	0.83823	.	0.152378	0.64402	D	0.000020	D	0.92590	0.7646	L	0.58101	1.795	0.80722	D	1	B;P;B	0.39480	0.328;0.675;0.137	B;B;B	0.33121	0.158;0.154;0.047	D	0.92356	0.5893	10	0.45353	T	0.12	-8.169	19.5233	0.95194	0.0:0.0:1.0:0.0	.	159;66;66	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	66;66;66;159;66	ENSP00000196169:E66K;ENSP00000367113:E66K;ENSP00000367126:E66K;ENSP00000440190:E159K	ENSP00000196169:E66K	E	+	1	0	TDRD3	59939494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.604000	0.88044	0.655000	0.94253	GAG	TDRD3	-	NULL		0.353	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	G	NM_030794		61041493	1	no_errors	ENST00000535286	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61041493	G	A	61041493	3	1	117	1	0	0	0	0	1	0	0	0	15762	1291	45	1	493	1	TDRD3	13	61041493	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8010806	61041493	54128385	865	18333										
KLHL1	57626	genome.wustl.edu	37	chr13	70535470	70535470	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaattggacaaggtcccagaGagcattggggtctatgcctt	12	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:70535470G>A	ENST00000377844.4	-	3	1546	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L70F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	263	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGGTCCCAGAGAGCATTGGGG	0.388																																																	0													156	138	144					13																	70535470		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.787C>T	13.37:g.70535470G>A	ENSP00000367075:p.Leu263Phe		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L263F	ENST00000377844.4	37	c.787	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775843	0.70107	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.64260	-0.09;-0.09	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.53938	D	0.000047	T	0.71221	0.3314	L	0.45051	1.395	0.40306	D	0.978668	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74140	-0.3761	10	0.87932	D	0	.	11.9459	0.52928	0.126:0.0:0.874:0.0	.	263;263	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	263;70	ENSP00000367075:L263F;ENSP00000439602:L70F	ENSP00000367075:L263F	L	-	1	0	KLHL1	69433471	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.630000	0.61297	2.531000	0.85337	0.563000	0.77884	CTC	KLHL1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70535470	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.997	A	A	70535470	G	A	70535470	3	1	117	1	0	0	0	0	1	0	0	0	8385	942	33	1	1495	1	KLHL1	13	70535470	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9493977	70535470	44634408	866	18334										
KLHL1	57626	genome.wustl.edu	37	chr13	70681805	70681805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgcagaatgtgcttcacatcGaagtcttttcgcccagagcc	9	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:70681805G>A	ENST00000377844.4	-	1	786	c.27C>T	c.(25-27)ttC>ttT	p.F9F	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	9					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCTTCACATCGAAGTCTTTTC	0.627																																																	0													21	24	23					13																	70681805		2202	4296	6498	SO:0001819	synonymous_variant	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.27C>T	13.37:g.70681805G>A			A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F9	ENST00000377844.4	37	c.27	CCDS9445.1	13																																																																																			KLHL1	-	NULL		0.627	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681805	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	silent	SNP	0.999	A	A	70681805	G	A	70681805	2	1	117	1	0	0	0	0	0	0	0	1	8385	1049	37	1		1	KLHL1	13	70681805	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	146335	70681805	44488073	867	18335										
LMO7	4008	genome.wustl.edu	37	chr13	76395627	76395627	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatggaatcaactcgtgtttCagcttctctccccagaagtt	7	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:76395627C>G	ENST00000321797.8	+	12	2544	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	LMO7_ENST00000465261.2_Nonsense_Mutation_p.S608*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.S458*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.S893*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.S893*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.S559*			Q8WWI1	LMO7_HUMAN	LIM domain 7	893					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTCGTGTTTCAGCTTCTCTC	0.473																																																	0													98	93	94					13																	76395627		2203	4300	6503	SO:0001587	stop_gained	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1823C>G	13.37:g.76395627C>G	ENSP00000317802:p.Ser608*		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S893*	ENST00000321797.8	37	c.2678		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.584187|16.584187	0.99867|0.99867	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.337385	.|0.32753	.|N	.|0.005698	T|.	0.69958|.	0.3169|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77568|.	-0.2539|.	3|.	.|0.87932	.|D	.|0	-12.412|-12.412	13.4829|13.4829	0.61348|0.61348	0.0:0.9288:0.0:0.0712|0.0:0.9288:0.0:0.0712	.|.	.|.	.|.	.|.	L|X	516|559;893;893;507;608;458;608	.|.	.|ENSP00000317802:S608X	F|S	+|+	3|2	2|0	LMO7|LMO7	75293628|75293628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.049000|5.049000	0.64244|0.64244	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	TTC|TCA	LMO7	-	NULL		0.473	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76395627	1	no_errors	ENST00000357063	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	76395627	C	G	76395627	4	3	117	1	0	0	0	0	0	1	0	0	8876	838	29	1	2736	1	LMO7	13	76395627	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5713822	76395627	38774251	868	18336										
LMO7	4008	genome.wustl.edu	37	chr13	76415797	76415797	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taagctcaaacagcatgtctCtgaccacacgggagccctct	8	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:76415797C>G	ENST00000321797.8	+	22	3731	c.3010C>G	c.(3010-3012)Ctg>Gtg	p.L1004V	LMO7_ENST00000465261.2_Missense_Mutation_p.L1004V|LMO7_ENST00000526202.1_Missense_Mutation_p.L881V|LMO7_ENST00000357063.3_Missense_Mutation_p.L1289V|LMO7_ENST00000377534.3_Missense_Mutation_p.L1289V|LMO7_ENST00000341547.4_Missense_Mutation_p.L955V			Q8WWI1	LMO7_HUMAN	LIM domain 7	1289					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGCATGTCTCTGACCACACG	0.473																																																	0													87	87	87					13																	76415797		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3010C>G	13.37:g.76415797C>G	ENSP00000317802:p.Leu1004Val		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.L1289V	ENST00000321797.8	37	c.3865		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.968|6.968	0.548508|0.548508	0.13312|0.13312	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	T;T;T;T;T;T;T|T;T	0.42900|0.46819	0.96;0.96;0.96;0.96;0.96;0.96;0.96|0.86;0.86	6.06|6.06	1.13|1.13	0.20643|0.20643	.|.	0.896444|.	0.09943|.	N|.	0.735628|.	T|T	0.49029|0.49029	0.1533|0.1533	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.21071|.	0.004;0.011;0.051;0.004;0.012|.	B;B;B;B;B|.	0.14023|.	0.004;0.009;0.01;0.004;0.01|.	T|T	0.48692|0.48692	-0.9013|-0.9013	10|7	0.22109|0.87932	T|D	0.4|0	0.06|0.06	13.4284|13.4284	0.61039|0.61039	0.0:0.4329:0.5009:0.0662|0.0:0.4329:0.5009:0.0662	.|.	881;955;1289;1004;1237|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	V|C	955;1289;1289;903;1004;881;1004|912;172	ENSP00000342112:L955V;ENSP00000349571:L1289V;ENSP00000366757:L1289V;ENSP00000366719:L903V;ENSP00000317802:L1004V;ENSP00000431129:L881V;ENSP00000433352:L1004V|ENSP00000388955:S912C;ENSP00000434083:S172C	ENSP00000317802:L1004V|ENSP00000388955:S912C	L|S	+|+	1|2	2|0	LMO7|LMO7	75313798|75313798	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.690000|0.690000	0.40134|0.40134	0.105000|0.105000	0.15333|0.15333	-0.054000|-0.054000	0.13266|0.13266	-1.886000|-1.886000	0.00541|0.00541	CTG|TCT	LMO7	-	NULL		0.473	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76415797	1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.001	G	G	76415797	C	G	76415797	3	3	117	1	0	0	0	0	1	0	0	0	8876	912	32	1	3963	1	LMO7	13	76415797	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	20170	76415797	38754081	869	18337										
SLITRK1	114798	genome.wustl.edu	37	chr13	84454368	84454368	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctatccatgtatagccacctGaggtccaaaaggttcttgaa	8	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454368G>T	ENST00000377084.2	-	1	2160	c.1275C>A	c.(1273-1275)ctC>ctA	p.L425L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	425					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATAGCCACCTGAGGTCCAAAA	0.468																																																	0													188	182	184					13																	84454368		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1275C>A	13.37:g.84454368G>T			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L425	ENST00000377084.2	37	c.1275	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454368	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.999	T	T	84454368	G	T	84454368	2	4	117	1	0	0	0	0	0	0	0	1	14772	1277	45	3		3	SLITRK1	13	84454368	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	8038571	84454368	30715510	870	18338			8	84		7	6	685	N	G	2.235151e-10
SLITRK1	114798	genome.wustl.edu	37	chr13	84454386	84454386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgaggtccaaaaggttcttGaaagtgttgttctctacagt	10	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454386G>C	ENST00000377084.2	-	1	2142	c.1257C>G	c.(1255-1257)ttC>ttG	p.F419L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	419					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAAGGTTCTTGAAAGTGTTGT	0.468																																																	0													216	210	212					13																	84454386		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1257C>G	13.37:g.84454386G>C	ENSP00000366288:p.Phe419Leu		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F419L	ENST00000377084.2	37	c.1257	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728233	0.48833	.	.	ENSG00000178235	ENST00000377084	T	0.51325	0.71	5.23	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	L	0.45581	1.43	0.49915	D	0.999831	D	0.76494	0.999	D	0.81914	0.995	T	0.53872	-0.8377	10	0.40728	T	0.16	-14.7678	6.6198	0.22796	0.2433:0.0:0.7567:0.0	.	419	Q96PX8	SLIK1_HUMAN	L	419	ENSP00000366288:F419L	ENSP00000366288:F419L	F	-	3	2	SLITRK1	83352387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.648000	0.24828	1.075000	0.40932	0.561000	0.74099	TTC	SLITRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454386	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	C	C	84454386	G	C	84454386	3	2	117	1	0	0	0	0	1	0	0	0	14772	1281	45	1	837	1	SLITRK1	13	84454386	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	18	84454386	30715492	871	18339			8	84		7	6	685	N	G	2.235151e-10
SLITRK1	114798	genome.wustl.edu	37	chr13	84454440	84454440	+	Silent	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgcccagatccaacagaatGaggttcttgtaatccacaaa					rs550166518		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454440G>A	ENST00000377084.2	-	1	2088	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	401					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAACAGAATGAGGTTCTTGT	0.438																																																	0													221	215	217					13																	84454440		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1203C>T	13.37:g.84454440G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L401	ENST00000377084.2	37	c.1203	CCDS9464.1	13																																																																																			SLITRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.438	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454440	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.995	A	A	84454440	G	A	84454440	2	1	117	1	0	0	0	0	0	0	0	1	14772	1277	45	1		1	SLITRK1	13	84454440	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	54	84454440	30715438	872	18340	103	2	8	84		7	6	685	N	G	2.235151e-10
SLITRK1	114798	genome.wustl.edu	37	chr13	84454449	84454449	+	Silent	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccaacagaatgaggttcttGtaatccacaaagtgcgattt							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454449G>A	ENST00000377084.2	-	1	2079	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	398					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGAGGTTCTTGTAATCCACAA	0.448																																																	0													209	203	205					13																	84454449		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1194C>T	13.37:g.84454449G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Y398	ENST00000377084.2	37	c.1194	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.448	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454449	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A	A	84454449	G	A	84454449	2	1	117	1	0	0	0	0	0	0	0	1	14772	1372	48	4		4	SLITRK1	13	84454449	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9	84454449	30715429	873	18341	103	2	8	84		7	6	685	N	G	2.235151e-10
SLITRK1	114798	genome.wustl.edu	37	chr13	84454521	84454521	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaagctcctgcacgttagaGagcttgggcttcaaatcagc	10	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454521G>C	ENST00000377084.2	-	1	2007	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	374					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCACGTTAGAGAGCTTGGGCT	0.512																																																	0													98	93	94					13																	84454521		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1122C>G	13.37:g.84454521G>C			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L374	ENST00000377084.2	37	c.1122	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.512	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454521	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.894	C	C	84454521	G	C	84454521	2	2	117	1	0	0	0	0	0	0	0	1	14772	929	33	1		1	SLITRK1	13	84454521	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	72	84454521	30715357	874	18342			8	84		7	6	685	N	G	2.235151e-10
SLITRK1	114798	genome.wustl.edu	37	chr13	84454935	84454935	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcttcgcagaccactcggccGatcagggcattcttgggaat	12	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454935G>A	ENST00000377084.2	-	1	1593	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	236	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.I236I(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCACTCGGCCGATCAGGGCAT	0.517																																																	1	Substitution - coding silent(1)	ovary(1)											57	58	58					13																	84454935		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.708C>T	13.37:g.84454935G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I236	ENST00000377084.2	37	c.708	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Cys-rich_flank_reg_C		0.517	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454935	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.998	A	A	84454935	G	A	84454935	2	1	117	1	0	0	0	0	0	0	0	1	14772	1048	37	1		1	SLITRK1	13	84454935	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	414	84454935	30714943	875	18343			8	84		7	6	685	N	G	2.235151e-10
SLITRK1	114798	genome.wustl.edu	37	chr13	84455052	84455052	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ataccagggatttgctccaaGacctcctcatagggcagcgt	10	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84455052G>A	ENST00000377084.2	-	1	1476	c.591C>T	c.(589-591)gtC>gtT	p.V197V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	197					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTTGCTCCAAGACCTCCTCAT	0.537																																																	0													80	78	79					13																	84455052		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.591C>T	13.37:g.84455052G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V197	ENST00000377084.2	37	c.591	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84455052	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A	A	84455052	G	A	84455052	2	1	117	1	0	0	0	0	0	0	0	1	14772	929	33	1		1	SLITRK1	13	84455052	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	117	84455052	30714826	876	18344			8	84		7	6	685	N	G	2.235151e-10
SLITRK6	84189	genome.wustl.edu	37	chr13	86368731	86368731	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctacttgtttctttttgtatCttctcctgcggtgaagaaca	7	9	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:86368731C>T	ENST00000400286.2	-	2	2511	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	638					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTTTTGTATCTTCTCCTGCG	0.413																																																	0													142	136	138					13																	86368731		1962	4160	6122	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1913G>A	13.37:g.86368731C>T	ENSP00000383143:p.Arg638Lys		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R638K	ENST00000400286.2	37	c.1913	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.347867	0.05208	.	.	ENSG00000184564	ENST00000400286	T	0.52526	0.66	5.38	4.54	0.55810	.	0.000000	0.64402	U	0.000002	T	0.27278	0.0669	N	0.17082	0.46	0.41069	D	0.985434	B	0.13145	0.007	B	0.09377	0.004	T	0.12041	-1.0563	10	0.02654	T	1	-11.9761	12.5679	0.56320	0.0:0.9193:0.0:0.0807	.	638	Q9H5Y7	SLIK6_HUMAN	K	638	ENSP00000383143:R638K	ENSP00000383143:R638K	R	-	2	0	SLITRK6	85266732	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.318000	0.43779	1.261000	0.44149	0.655000	0.94253	AGA	SLITRK6	-	NULL		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86368731	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	0.997	T	T	86368731	C	T	86368731	3	4	117	1	0	0	0	0	1	0	0	0	14777	913	32	1	616	1	SLITRK6	13	86368731	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1913679	86368731	28801147	877	18345										
OXGR1	27199	genome.wustl.edu	37	chr13	97639486	97639486	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggctgatctgttggtcctGttggttgatgtgatcaagaa	13	6	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:97639486G>C	ENST00000298440.1	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	OXGR1_ENST00000543457.1_Missense_Mutation_p.N176K	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	176					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGTTGGTCCTGTTGGTTGATG	0.463																																																	0													145	109	121					13																	97639486		2203	4300	6503	SO:0001583	missense	27199			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.528C>G	13.37:g.97639486G>C	ENSP00000298440:p.Asn176Lys		Q5T5A7|Q86TL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.N176K	ENST00000298440.1	37	c.528	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.039369	0.02013	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.40225	1.04;1.04	5.87	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.360437	0.17134	U	0.185721	T	0.16811	0.0404	N	0.05306	-0.075	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.30995	-0.9959	10	0.06236	T	0.91	.	7.0375	0.25000	0.0636:0.2252:0.5251:0.1861	.	176	Q96P68	OXGR1_HUMAN	K	176	ENSP00000298440:N176K;ENSP00000438800:N176K	ENSP00000298440:N176K	N	-	3	2	OXGR1	96437487	0.000000	0.05858	0.956000	0.39512	0.799000	0.45148	0.023000	0.13533	0.365000	0.24400	0.655000	0.94253	AAC	OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	G	NM_080818		97639486	-1	no_errors	ENST00000298440	ensembl	human	known	70_37	missense	SNP	0.000	C	C	97639486	G	C	97639486	3	2	117	1	0	0	0	0	1	0	0	0	11356	1368	48	4	489	4	OXGR1	13	97639486	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11270755	97639486	17530392	878	18346										
DOCK9	23348	genome.wustl.edu	37	chr13	99567632	99567632	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcattgcagcttcaaagttGagctggaggatcttatttag	11	6	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:99567632G>A	ENST00000376460.1	-	8	923	c.843C>T	c.(841-843)ctC>ctT	p.L281L	DOCK9_ENST00000339416.2_Silent_p.L282L|DOCK9_ENST00000442173.1_Silent_p.L281L|DOCK9_ENST00000448493.2_Silent_p.L293L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	282	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTCAAAGTTGAGCTGGAGGA	0.453																																																	0													102	99	100					13																	99567632		2100	4228	6328	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.843C>T	13.37:g.99567632G>A			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L282	ENST00000376460.1	37	c.846	CCDS45062.1	13																																																																																			DOCK9	-	smart_Pleckstrin_homology		0.453	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	G	NM_015296		99567632	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99567632	G	A	99567632	2	1	117	1	0	0	0	0	0	0	0	1	4704	1277	45	1		1	DOCK9	13	99567632	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1928146	99567632	15602246	879	18347										
TMTC4	84899	genome.wustl.edu	37	chr13	101287313	101287313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttgctcagggctccgaatcCaaaagtcagcagcacacagt	9	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:101287313C>G	ENST00000376234.3	-	10	1471	c.1282G>C	c.(1282-1284)Gga>Cga	p.G428R	TMTC4_ENST00000342624.5_Missense_Mutation_p.G447R|TMTC4_ENST00000328767.5_Missense_Mutation_p.G317R|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	428						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCCGAATCCAAAAGTCAGC	0.522																																																	0													79	75	76					13																	101287313		2203	4300	6503	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1282G>C	13.37:g.101287313C>G	ENSP00000365408:p.Gly428Arg		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G447R	ENST00000376234.3	37	c.1339	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.489648	0.96323	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.67865	-0.26;-0.29;0.61	5.5	5.5	0.81552	.	0.157874	0.56097	D	0.000030	D	0.87075	0.6087	M	0.93197	3.39	0.48696	D	0.999691	D;D;D;P	0.89917	0.992;1.0;0.996;0.913	D;D;D;P	0.76575	0.942;0.988;0.937;0.767	D	0.90120	0.4198	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	317;428;428;447	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	R	428;447;317	ENSP00000365408:G428R;ENSP00000343871:G447R;ENSP00000365409:G317R	ENSP00000365409:G317R	G	-	1	0	TMTC4	100085314	0.996000	0.38824	0.035000	0.18076	0.887000	0.51463	5.759000	0.68785	2.584000	0.87258	0.563000	0.77884	GGA	TMTC4	-	NULL		0.522	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	C	NM_032813		101287313	-1	no_errors	ENST00000342624	ensembl	human	known	70_37	missense	SNP	0.888	G	G	101287313	C	G	101287313	3	3	117	1	0	0	0	0	1	0	0	0	16293	603	21	4	979	4	TMTC4	13	101287313	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1719681	101287313	13882565	880	18348										
NALCN	259232	genome.wustl.edu	37	chr13	101735534	101735534	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttatgtcatacattttagctCtaaaaccatcattatctaga	3	8	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:101735534C>T	ENST00000251127.6	-	32	3680	c.3599G>A	c.(3598-3600)aGa>aAa	p.R1200K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1200					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATTTTAGCTCTAAAACCATC	0.388																																																	0													110	108	109					13																	101735534		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3599G>A	13.37:g.101735534C>T	ENSP00000251127:p.Arg1200Lys		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R1200K	ENST00000251127.6	37	c.3599	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862880	0.91511	.	.	ENSG00000102452	ENST00000251127	D	0.98381	-4.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.75777	2.31	0.80722	D	1	P	0.47545	0.897	P	0.47941	0.562	D	0.98971	1.0801	10	0.66056	D	0.02	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	1200	Q8IZF0	NALCN_HUMAN	K	1200	ENSP00000251127:R1200K	ENSP00000251127:R1200K	R	-	2	0	NALCN	100533535	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.487000	0.81328	2.672000	0.90937	0.555000	0.69702	AGA	NALCN	-	NULL		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	C	NM_052867		101735534	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101735534	C	T	101735534	3	4	117	1	0	0	0	0	1	0	0	0	10171	913	32	1	1669	1	NALCN	13	101735534	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	448221	101735534	13434344	881	18349										
TPP2	7174	genome.wustl.edu	37	chr13	103268843	103268843	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgatgttgccaacaacggctCttctcaagttggtgctagtc	10	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:103268843C>G	ENST00000376065.4	+	4	524	c.488C>G	c.(487-489)tCt>tGt	p.S163C	TPP2_ENST00000376052.3_Missense_Mutation_p.S163C	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	163	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAACGGCTCTTCTCAAGTT	0.408																																																	0													85	90	88					13																	103268843		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.488C>G	13.37:g.103268843C>G	ENSP00000365233:p.Ser163Cys		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.S163C	ENST00000376065.4	37	c.488	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899097	0.52227	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.55	3.79	0.43588	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.310776	0.35555	N	0.003121	T	0.37019	0.0988	L	0.46157	1.445	0.30882	N	0.731274	P	0.46142	0.873	P	0.44623	0.455	T	0.44467	-0.9326	9	0.56958	D	0.05	.	6.5593	0.22478	0.1347:0.6661:0.1299:0.0692	.	163	P29144	TPP2_HUMAN	C	163	.	ENSP00000365220:S163C	S	+	2	0	TPP2	102066844	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	2.303000	0.43646	0.792000	0.33850	0.585000	0.79938	TCT	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	C			103268843	1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	0.998	G	G	103268843	C	G	103268843	3	3	117	1	0	0	0	0	1	0	0	0	16443	913	32	1	502	1	TPP2	13	103268843	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1533309	103268843	11901035	882	18350										
MYO16	23026	genome.wustl.edu	37	chr13	109445889	109445889	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gatttgacctcactgcgccaGatgaagcttcagagaccaat	9	11	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:109445889G>C	ENST00000357550.2	+	5	617	c.576G>C	c.(574-576)caG>caC	p.Q192H	MYO16_ENST00000356711.2_Missense_Mutation_p.Q192H|MYO16_ENST00000251041.5_Missense_Mutation_p.Q192H	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACTGCGCCAGATGAAGCTTC	0.448																																																	0													132	124	127					13																	109445889		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.576G>C	13.37:g.109445889G>C	ENSP00000350160:p.Gln192His			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q192H	ENST00000357550.2	37	c.576	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144701	0.57044	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52983	0.64;0.64;0.64	5.76	4.04	0.47022	Ankyrin repeat-containing domain (3);	0.000000	0.38548	U	0.001654	T	0.62588	0.2440	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64687	0.885;0.928	T	0.61869	-0.6974	9	.	.	.	.	10.5449	0.45054	0.1576:0.0:0.8424:0.0	.	192;192	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	192	ENSP00000349145:Q192H;ENSP00000350160:Q192H;ENSP00000251041:Q192H	.	Q	+	3	2	MYO16	108243890	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	1.730000	0.38125	0.791000	0.33826	0.591000	0.81541	CAG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.448	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	G	NM_015011		109445889	1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109445889	G	C	109445889	3	2	117	1	0	0	0	0	1	0	0	0	10087	933	33	1	594	1	MYO16	13	109445889	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6177046	109445889	5723989	883	18351										
COL4A1	1282	genome.wustl.edu	37	chr13	110819508	110819508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtctgtgctgtcttaccttGaaatcctggaactcctggag	11	10	2	1	rs377122126		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:110819508G>A	ENST00000375820.4	-	44	4067	c.3946C>T	c.(3946-3948)Caa>Taa	p.Q1316*		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1316	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTCTTACCTTGAAATCCTGGA	0.542																																																	0													182	170	174					13																	110819508		2203	4300	6503	SO:0001587	stop_gained	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3946C>T	13.37:g.110819508G>A	ENSP00000364979:p.Gln1316*		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q1316*	ENST00000375820.4	37	c.3946	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	42	9.432177	0.99169	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	5.28	4.42	0.53409	.	0.131926	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7962	0.78412	0.0:0.1366:0.8634:0.0	.	.	.	.	X	959;1316;965	.	ENSP00000364973:Q959X	Q	-	1	0	COL4A1	109617509	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	3.007000	0.49536	1.197000	0.43143	0.655000	0.94253	CAA	COL4A1	-	pfam_Collagen		0.542	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	G			110819508	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	110819508	G	A	110819508	4	1	117	1	0	0	0	0	0	1	0	0	3694	1299	45	1	1099	1	COL4A1	13	110819508	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1373619	110819508	4350370	884	18352										
RAB20	55647	genome.wustl.edu	37	chr13	111176396	111176396	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgttccccacgatggcaaaGaggcagtctttgctggctgt	12	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:111176396G>C	ENST00000267328.3	-	2	534	c.321C>G	c.(319-321)ctC>ctG	p.L107L		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	107					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CGATGGCAAAGAGGCAGTCTT	0.607																																																	0													63	59	60					13																	111176396		2203	4300	6503	SO:0001819	synonymous_variant	55647			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"RAB, member RAS oncogene"	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.321C>G	13.37:g.111176396G>C			Q5T9X5|Q9NX49	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L107	ENST00000267328.3	37	c.321	CCDS9512.1	13																																																																																			RAB20	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.607	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	G	NM_017817		111176396	-1	no_errors	ENST00000267328	ensembl	human	known	70_37	silent	SNP	0.997	C	C	111176396	G	C	111176396	2	2	117	1	0	0	0	0	0	0	0	1	12937	929	33	1		1	RAB20	13	111176396	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	356888	111176396	3993482	885	18353										
ARHGEF7	8874	genome.wustl.edu	37	chr13	111935688	111935688	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgcgcctcccctccggccctCagctgctctctgctacaagg	9	20	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:111935688C>T	ENST00000375741.2	+	17	2241	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.S486L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S643L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.S486L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.S408L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S614L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.S571L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.S561L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.S486L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.S486L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	664					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCCGGCCCTCAGCTGCTCTC	0.672																																																	0													22	22	22					13																	111935688		2157	4248	6405	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1991C>T	13.37:g.111935688C>T	ENSP00000364893:p.Ser664Leu		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.S664L	ENST00000375741.2	37	c.1991	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327754	0.81690	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T	0.64085	0.52;0.5;0.5;0.56;0.5;0.57;0.57;0.6;0.47;-0.08	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	L	0.52266	1.64	0.80722	D	1	D;P;D;D;D;D	0.89917	0.97;0.768;1.0;1.0;1.0;1.0	P;B;D;D;D;D	0.91635	0.824;0.347;0.982;0.998;0.999;0.999	T	0.70988	-0.4722	10	0.27082	T	0.32	.	17.3802	0.87402	0.0:1.0:0.0:0.0	.	408;561;486;614;664;643	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	L	643;664;614;571;641;486;486;486;561;486;408	ENSP00000325994:S643L;ENSP00000364893:S664L;ENSP00000364891:S614L;ENSP00000359657:S571L;ENSP00000218789:S486L;ENSP00000364888:S486L;ENSP00000397068:S486L;ENSP00000364889:S561L;ENSP00000364875:S486L;ENSP00000417596:S408L	ENSP00000218789:S486L	S	+	2	0	ARHGEF7	110733689	1.000000	0.71417	0.634000	0.29324	0.896000	0.52359	7.382000	0.79729	2.101000	0.63845	0.561000	0.74099	TCA	ARHGEF7	-	NULL		0.672	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111935688	1	no_errors	ENST00000375741	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111935688	C	T	111935688	3	4	117	1	0	0	0	0	1	0	0	0	911	838	29	1	2057	1	ARHGEF7	13	111935688	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	759292	111935688	3234190	886	18354										
CUL4A	8451	genome.wustl.edu	37	chr13	113899366	113899366	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagtctatgttgtcaaagctCaagcatggtaagtatgtggg	12	5	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:113899366C>T	ENST00000375440.4	+	13	1521	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	CUL4A_ENST00000326335.4_Silent_p.L379L|CUL4A_ENST00000451881.1_Silent_p.L379L|CUL4A_ENST00000375441.3_Silent_p.L379L	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	479					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGTCAAAGCTCAAGCATGGTA	0.473																																																	0													98	98	98					13																	113899366		2203	4300	6503	SO:0001819	synonymous_variant	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1437C>T	13.37:g.113899366C>T			A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L479	ENST00000375440.4	37	c.1437	CCDS41908.1	13																																																																																			CUL4A	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.473	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	C	NM_003589		113899366	1	no_errors	ENST00000375440	ensembl	human	known	70_37	silent	SNP	0.917	T	T	113899366	C	T	113899366	2	4	117	1	0	0	0	0	0	0	0	1	4062	813	29	1		1	CUL4A	13	113899366	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1963678	113899366	1270512	887	18355										
GRK1	6011	genome.wustl.edu	37	chr13	114325968	114325968	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaacgtgctgctggacaatGacggtaggaggtgccctcgg	16	9	0	2	rs376631949		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:114325968G>A	ENST00000335678.6	+	3	1214	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCTGGACAATGACGGTAGGAG	0.403																																																	0									ASN/ASP	0,4050		0,0,2025	14	15	15		982	4.4	0.3	13		15	1,8321		0,1,4160	no	missense	GRK1	NM_002929.2	23	0,1,6185	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	328/564	114325968	1,12371	2025	4161	6186	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.982G>A	13.37:g.114325968G>A	ENSP00000334876:p.Asp328Asn		Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.D328N	ENST00000335678.6	37	c.982		13	.	.	.	.	.	.	.	.	.	.	g	12.99	2.103326	0.37145	0.0	1.2E-4	ENSG00000185974	ENST00000335678	T	0.25579	1.79	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.160118	0.53938	D	0.000051	T	0.26738	0.0654	.	.	.	0.41428	D	0.987849	B	0.31125	0.309	B	0.38500	0.275	T	0.06972	-1.0797	9	0.28530	T	0.3	-26.2837	14.8991	0.70664	0.0:0.0:1.0:0.0	.	328	Q15835	RK_HUMAN	N	328	ENSP00000334876:D328N	ENSP00000334876:D328N	D	+	1	0	GRK1	113373969	0.567000	0.26626	0.297000	0.24988	0.650000	0.38633	3.091000	0.50199	2.148000	0.66965	0.506000	0.49869	GAC	GRK1	-	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		0.403	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	G	NM_002929		114325968	1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	0.986	A	A	114325968	G	A	114325968	3	1	117	1	0	0	0	0	1	0	0	0	6810	1290	45	1	992	1	GRK1	13	114325968	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	426602	114325968	843910	888	18356										
OR4L1	122742	genome.wustl.edu	37	chr14	20528220	20528220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtaaatggatcttaaaaatgGatctctagtgaccgagttta	9	5	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:20528220G>C	ENST00000315683.1	+	1	17	c.17G>C	c.(16-18)gGa>gCa	p.G6A		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTTAAAAATGGATCTCTAGTG	0.328																																																	0													118	127	124					14																	20528220		2203	4300	6503	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.17G>C	14.37:g.20528220G>C	ENSP00000319217:p.Gly6Ala		Q6IEZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G6A	ENST00000315683.1	37	c.17	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	4.158	0.027737	0.08054	.	.	ENSG00000176246	ENST00000315683	T	0.00500	6.96	3.28	-1.9	0.07665	.	1.192960	0.06197	N	0.682411	T	0.00300	0.0009	N	0.12611	0.24	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.36601	-0.9741	10	0.41790	T	0.15	.	4.8202	0.13387	0.5374:0.1736:0.289:0.0	.	6	Q8NH43	OR4L1_HUMAN	A	6	ENSP00000319217:G6A	ENSP00000319217:G6A	G	+	2	0	OR4L1	19598060	0.000000	0.05858	0.058000	0.19502	0.903000	0.53119	-1.484000	0.02316	-0.411000	0.07530	0.639000	0.83563	GGA	OR4L1	-	NULL		0.328	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	G			20528220	1	no_errors	ENST00000315683	ensembl	human	known	70_37	missense	SNP	0.017	C	C	20528220	G	C	20528220	3	2	117	1	0	0	0	0	1	0	0	0	11098	1174	41	1	19	1	OR4L1	14	20528220	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		20528220	86821320	889	18357										
TEP1	7011	genome.wustl.edu	37	chr14	20852329	20852329	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtggcttctgcagctgctgGaaggtggcctggaccaagtc	16	10	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:20852329G>A	ENST00000262715.5	-	24	3442	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.F1026F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1134					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCAGCTGCTGGAAGGTGGCCT	0.627																																																	0													56	61	60					14																	20852329		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3402C>T	14.37:g.20852329G>A			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1134	ENST00000262715.5	37	c.3402	CCDS9548.1	14																																																																																			TEP1	-	NULL		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	G	NM_007110		20852329	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	silent	SNP	0.993	A	A	20852329	G	A	20852329	2	1	117	1	0	0	0	0	0	0	0	1	15789	1165	41	1		1	TEP1	14	20852329	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	324109	20852329	86497211	890	18358										
RNASE12	493901	genome.wustl.edu	37	chr14	21058829	21058829	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacatcactgcttcatcattCacctcattttcccagaacag	4	14	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:21058829C>T	ENST00000556526.1	-	1	153	c.54G>A	c.(52-54)gtG>gtA	p.V18V	RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000555841.1_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000555283.1_Silent_p.V18V|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	18						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTTCATCATTCACCTCATTTT	0.428																																																	0													156	141	146					14																	21058829		2203	4300	6503	SO:0001819	synonymous_variant	493901				CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"Ribonucleases, RNase A"	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.54G>A	14.37:g.21058829C>T				Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.V18	ENST00000556526.1	37	c.54	CCDS32037.1	14																																																																																			RNASE12	-	NULL		0.428	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE12	Uniprot_genename	protein_coding	OTTHUMT00000411107.1	C			21058829	-1	no_errors	ENST00000382999	ensembl	human	known	70_37	silent	SNP	0.000	T	T	21058829	C	T	21058829	2	4	117	1	0	0	0	0	0	0	0	1	13432	813	29	1		1	RNASE12	14	21058829	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	206500	21058829	86290711	891	18359										
OR6S1	341799	genome.wustl.edu	37	chr14	21109728	21109728	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acaatcaacacattgcctgtCagattcaggagatagacaag	8	9	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:21109728C>G	ENST00000320704.3	-	1	122	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CATTGCCTGTCAGATTCAGGA	0.478																																																	0													97	94	95					14																	21109728		2203	4300	6503	SO:0001819	synonymous_variant	341799			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.123G>C	14.37:g.21109728C>G			Q6IFJ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000320704.3	37	c.123	CCDS32038.1	14																																																																																			OR6S1	-	prints_GPCR_Rhodpsn		0.478	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1	C			21109728	-1	no_errors	ENST00000320704	ensembl	human	known	70_37	silent	SNP	0.027	G	G	21109728	C	G	21109728	2	3	117	1	0	0	0	0	0	0	0	1	11233	813	29	1		1	OR6S1	14	21109728	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	50899	21109728	86239812	892	18360										
CHD8	57680	genome.wustl.edu	37	chr14	21861729	21861729	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagatggtgacagcttgctCaagtccagctcagagtccga	12	10	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:21861729C>G	ENST00000557364.1	-	32	6488	c.6225G>C	c.(6223-6225)ttG>ttC	p.L2075F	CHD8_ENST00000430710.3_Missense_Mutation_p.L1796F|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.L2075F|CHD8_ENST00000555962.1_5'Flank			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2075	Ser-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACAGCTTGCTCAAGTCCAGCT	0.512																																																	0													38	40	39					14																	21861729		2098	4224	6322	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6225G>C	14.37:g.21861729C>G	ENSP00000451601:p.Leu2075Phe		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L2075F	ENST00000557364.1	37	c.6225	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926411	0.34002	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88975	-2.45;-2.45;-2.45	5.26	4.3	0.51218	.	0.256479	0.28182	N	0.016293	D	0.85366	0.5680	N	0.08118	0	0.27806	N	0.942319	D	0.69078	0.997	D	0.75484	0.986	T	0.76260	-0.3024	10	0.56958	D	0.05	-6.6309	5.9341	0.19154	0.0:0.6998:0.1964:0.1038	.	1796	Q9HCK8-2	.	F	1796;2075;1795;2075	ENSP00000406288:L1796F;ENSP00000382863:L2075F;ENSP00000451601:L2075F	ENSP00000262707:L1795F	L	-	3	2	CHD8	20931569	0.932000	0.31603	1.000000	0.80357	0.998000	0.95712	0.639000	0.24690	2.739000	0.93911	0.563000	0.77884	TTG	CHD8	-	NULL		0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21861729	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21861729	C	G	21861729	3	3	117	1	0	0	0	0	1	0	0	0	3336	825	29	1	1548	1	CHD8	14	21861729	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	752001	21861729	85487811	893	18361										
ACIN1	22985	genome.wustl.edu	37	chr14	23533373	23533373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtcccatcatcgccattacGctctgtctcatcctcagaga	7	15	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23533373G>A	ENST00000262710.1	-	12	3037	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	ACIN1_ENST00000357481.2_Missense_Mutation_p.R146C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R145C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R846C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R864C|ACIN1_ENST00000397341.3_Missense_Mutation_p.R146C|ACIN1_ENST00000338631.6_Missense_Mutation_p.R177C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R891C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	904					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCGCCATTACGCTCTGTCTCA	0.572																																																	0													120	108	112					14																	23533373		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2710C>T	14.37:g.23533373G>A	ENSP00000262710:p.Arg904Cys		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R904C	ENST00000262710.1	37	c.2710	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524924	0.64747	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.17370	3.19;3.19;3.19;2.28;2.29;3.19;3.2	5.1	5.1	0.69264	.	0.000000	0.41097	D	0.000954	T	0.32526	0.0832	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998	D;D;D;D;P	0.76071	0.987;0.982;0.982;0.919;0.891	T	0.00731	-1.1590	10	0.59425	D	0.04	-7.0906	12.832	0.57750	0.0:0.0:0.8365:0.1635	.	891;904;864;177;146	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	145;177;146;904;864;146;891;134	ENSP00000451138:R145C;ENSP00000345541:R177C;ENSP00000350073:R146C;ENSP00000262710:R904C;ENSP00000405677:R864C;ENSP00000380502:R146C;ENSP00000451328:R891C	ENSP00000262710:R904C	R	-	1	0	ACIN1	22603213	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.814000	0.96858	0.563000	0.77884	CGT	ACIN1	-	NULL		0.572	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23533373	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23533373	G	A	23533373	3	1	117	1	0	0	0	0	1	0	0	0	142	1087	38	2	1347	2	ACIN1	14	23533373	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1671644	23533373	83816167	894	18362										
HOMEZ	57594	genome.wustl.edu	37	chr14	23745586	23745586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaagaggtagaggaagaaGagggagtaacactagatgct	15	3	0	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23745586G>A	ENST00000357460.5	-	2	1015	c.851C>T	c.(850-852)tCt>tTt	p.S284F	HOMEZ_ENST00000561013.1_Missense_Mutation_p.S286F|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S286F	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	284	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGGAAGAAGAGGGAGTAAC	0.522																																																	0													68	72	71					14																	23745586		2138	4232	6370	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.851C>T	14.37:g.23745586G>A	ENSP00000350049:p.Ser284Phe		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S286F	ENST00000357460.5	37	c.857	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832062	0.50845	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25749	1.78;1.78	6.04	6.04	0.98038	.	0.478627	0.23863	N	0.043829	T	0.27933	0.0688	N	0.24115	0.695	0.18873	N	0.999982	P;P	0.44195	0.763;0.828	P;B	0.47528	0.549;0.44	T	0.12016	-1.0564	10	0.54805	T	0.06	-7.587	17.5116	0.87761	0.0:0.0:1.0:0.0	.	286;284	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	F	284;286	ENSP00000350049:S284F;ENSP00000406579:S286F	ENSP00000350049:S284F	S	-	2	0	HOMEZ	22815426	0.802000	0.28943	0.937000	0.37676	0.965000	0.64279	2.359000	0.44142	2.873000	0.98535	0.563000	0.77884	TCT	RP11-124D2.6	-	NULL		0.522	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	G	NM_020834		23745586	-1	no_errors	ENST00000431326	ensembl	human	known	70_37	missense	SNP	0.480	A	A	23745586	G	A	23745586	3	1	117	1	0	0	0	0	1	0	0	0	7301	942	33	1	805	1	HOMEZ	14	23745586	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	212213	23745586	83603954	895	18363										
MYH7	4625	genome.wustl.edu	37	chr14	23896894	23896894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcattgagaggatccttgttCttctgcagccagccaatgat	9	10	3	2	rs483352948		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23896894C>G	ENST00000355349.3	-	16	1950	c.1788G>C	c.(1786-1788)aaG>aaC	p.K596N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	596	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATCCTTGTTCTTCTGCAGCC	0.537																																																	0													135	115	122					14																	23896894		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1788G>C	14.37:g.23896894C>G	ENSP00000347507:p.Lys596Asn		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K596N	ENST00000355349.3	37	c.1788	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783296	0.49891	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.97328	-4.34	4.83	2.96	0.34315	Myosin head, motor domain (2);	.	.	.	.	D	0.99099	0.9690	H	0.99820	4.81	0.58432	D	0.999993	P	0.38617	0.64	P	0.57371	0.819	D	0.98208	1.0471	9	0.87932	D	0	.	10.5784	0.45240	0.0:0.8392:0.0:0.1608	.	596	P12883	MYH7_HUMAN	N	596	ENSP00000347507:K596N	ENSP00000347507:K596N	K	-	3	2	MYH7	22966734	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	3.608000	0.54109	0.733000	0.32492	0.558000	0.71614	AAG	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23896894	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23896894	C	G	23896894	3	3	117	1	0	0	0	0	1	0	0	0	10062	912	32	1	4119	1	MYH7	14	23896894	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	151308	23896894	83452646	896	18364										
MYH7	4625	genome.wustl.edu	37	chr14	23899789	23899789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcagtggccatgagctcctCagcgtcatcaatggaggcca	11	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23899789C>T	ENST00000355349.3	-	11	1141	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	327	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGAGCTCCTCAGCGTCATCA	0.547																																																	0													100	74	83					14																	23899789		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.979G>A	14.37:g.23899789C>T	ENSP00000347507:p.Glu327Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E327K	ENST00000355349.3	37	c.979	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278054	0.80692	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87491	-2.26	3.41	3.41	0.39046	Myosin head, motor domain (2);	.	.	.	.	D	0.89491	0.6730	L	0.58810	1.83	0.58432	D	0.999992	B	0.23316	0.083	B	0.43445	0.42	D	0.89446	0.3727	9	0.62326	D	0.03	.	14.9954	0.71428	0.0:1.0:0.0:0.0	.	327	P12883	MYH7_HUMAN	K	327	ENSP00000347507:E327K	ENSP00000347507:E327K	E	-	1	0	MYH7	22969629	1.000000	0.71417	0.968000	0.41197	0.686000	0.39977	5.775000	0.68915	1.741000	0.51731	0.462000	0.41574	GAG	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23899789	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	0.997	T	T	23899789	C	T	23899789	3	4	117	1	0	0	0	0	1	0	0	0	10062	835	29	1	4948	1	MYH7	14	23899789	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2895	23899789	83449751	897	18365										
PRKD1	5587	genome.wustl.edu	37	chr14	30046635	30046635	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccgattttgcattccagctCtcgcaaatctaaccaggtct	6	14	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:30046635C>G	ENST00000331968.5	-	18	2777	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.E858Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	850					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATTCCAGCTCTCGCAAATCT	0.453																																																	0													105	98	101					14																	30046635		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2548G>C	14.37:g.30046635C>G	ENSP00000333568:p.Glu850Gln		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E850Q	ENST00000331968.5	37	c.2548	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041368	0.35989	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82619	-1.63;-1.63	6.17	5.29	0.74685	Protein kinase-like domain (1);	0.120815	0.56097	D	0.000034	T	0.79799	0.4508	L	0.51914	1.62	0.42862	D	0.994119	B	0.28933	0.228	B	0.28553	0.091	T	0.77208	-0.2672	10	0.39692	T	0.17	-31.9515	15.8154	0.78595	0.0:0.9352:0.0:0.0648	.	850	Q15139	KPCD1_HUMAN	Q	850;858	ENSP00000333568:E850Q;ENSP00000390535:E858Q	ENSP00000333568:E850Q	E	-	1	0	PRKD1	29116386	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.058000	0.49939	1.633000	0.50488	-0.137000	0.14449	GAG	PRKD1	-	superfamily_Kinase-like_dom		0.453	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	C	NM_002742		30046635	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	0.996	G	G	30046635	C	G	30046635	3	3	117	1	0	0	0	0	1	0	0	0	12545	922	32	1	194	1	PRKD1	14	30046635	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6146846	30046635	77302905	898	18366										
HECTD1	25831	genome.wustl.edu	37	chr14	31598191	31598191	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaactatcagggcctaacttCctttcagcattttcacttcc	5	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:31598191C>T	ENST00000399332.1	-	25	4874	c.4386G>A	c.(4384-4386)agG>agA	p.R1462R	HECTD1_ENST00000553700.1_Silent_p.R1462R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1462	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGCCTAACTTCCTTTCAGCAT	0.458																																																	0													138	127	130					14																	31598191		1929	4137	6066	SO:0001819	synonymous_variant	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4386G>A	14.37:g.31598191C>T			D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.R1462	ENST00000399332.1	37	c.4386	CCDS41939.1	14																																																																																			HECTD1	-	NULL		0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31598191	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31598191	C	T	31598191	2	4	117	1	0	0	0	0	0	0	0	1	7059	854	30	1		1	HECTD1	14	31598191	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1551556	31598191	75751349	899	18367										
AKAP6	9472	genome.wustl.edu	37	chr14	33291446	33291446	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttactcatacctccaaggctCaaaactcaaattaccaatga	3	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:33291446C>G	ENST00000280979.4	+	13	4597	c.4427C>G	c.(4426-4428)tCa>tGa	p.S1476*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1476					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCCAAGGCTCAAAACTCAAA	0.358																																					Melanoma(49;821 1200 7288 13647 42351)												0													75	72	73					14																	33291446		2203	4300	6503	SO:0001587	stop_gained	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4427C>G	14.37:g.33291446C>G	ENSP00000280979:p.Ser1476*		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1476*	ENST00000280979.4	37	c.4427	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	43	9.931164	0.99298	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.38	5.38	0.77491	.	0.326039	0.26467	N	0.024206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0228	17.3092	0.87204	0.0:1.0:0.0:0.0	.	.	.	.	X	1476	.	ENSP00000280979:S1476X	S	+	2	0	AKAP6	32361197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.514000	0.84764	0.563000	0.77884	TCA	AKAP6	-	NULL		0.358	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33291446	1	no_errors	ENST00000280979	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	33291446	C	G	33291446	4	3	117	1	0	0	0	0	0	1	0	0	455	838	29	1	4473	1	AKAP6	14	33291446	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1693255	33291446	74058094	900	18368										
AKAP6	9472	genome.wustl.edu	37	chr14	33292215	33292215	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggctgatgaaagcgatgtCaatgtcagcatgattgttaa	12	5	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:33292215C>G	ENST00000280979.4	+	13	5366	c.5196C>G	c.(5194-5196)gtC>gtG	p.V1732V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1732					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGCGATGTCAATGTCAGCA	0.468																																					Melanoma(49;821 1200 7288 13647 42351)												0													185	153	164					14																	33292215		2203	4300	6503	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5196C>G	14.37:g.33292215C>G			A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.V1732	ENST00000280979.4	37	c.5196	CCDS9644.1	14																																																																																			AKAP6	-	NULL		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33292215	1	no_errors	ENST00000280979	ensembl	human	known	70_37	silent	SNP	1.000	G	G	33292215	C	G	33292215	2	3	117	1	0	0	0	0	0	0	0	1	455	813	29	1		1	AKAP6	14	33292215	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	769	33292215	74057325	901	18369										
CTAGE5	4253	genome.wustl.edu	37	chr14	39815196	39815196	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtctggaccagcagaactCagaagttttaatatgccttc	8	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:39815196C>G	ENST00000280083.3	+	21	2234	c.1920C>G	c.(1918-1920)ctC>ctG	p.L640L	CTAGE5_ENST00000557038.1_Silent_p.L560L|CTAGE5_ENST00000556148.1_Silent_p.L565L|CTAGE5_ENST00000396165.4_Silent_p.L611L|CTAGE5_ENST00000348007.3_Silent_p.L597L|RP11-407N17.3_ENST00000603904.1_Silent_p.L611L|CTAGE5_ENST00000341749.3_Silent_p.L628L|CTAGE5_ENST00000396158.2_Silent_p.L645L|CTAGE5_ENST00000553352.1_Silent_p.L611L|RP11-407N17.3_ENST00000553728.1_Silent_p.L1175L|CTAGE5_ENST00000341502.5_Silent_p.L640L			O15320	CTGE5_HUMAN	CTAGE family, member 5	640	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAGCAGAACTCAGAAGTTTTA	0.373																																																	0													79	79	79					14																	39815196		2203	4300	6503	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1920C>G	14.37:g.39815196C>G			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.L645	ENST00000280083.3	37	c.1935	CCDS9674.1	14																																																																																			CTAGE5	-	NULL		0.373	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39815196	1	no_errors	ENST00000396158	ensembl	human	known	70_37	silent	SNP	0.992	G	G	39815196	C	G	39815196	2	3	117	1	0	0	0	0	0	0	0	1	3999	813	29	1		1	CTAGE5	14	39815196	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6522981	39815196	67534344	902	18370										
KLHL28	54813	genome.wustl.edu	37	chr14	45414681	45414681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtggctgccaaataaaggtCacggcaaccatatgtttctg	10	9	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:45414681C>T	ENST00000396128.4	-	2	570	c.451G>A	c.(451-453)Gac>Aac	p.D151N	KLHL28_ENST00000355081.2_Missense_Mutation_p.D165N	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	151										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAATAAAGGTCACGGCAACCA	0.378																																																	0													65	65	65					14																	45414681		2203	4300	6503	SO:0001583	missense	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.451G>A	14.37:g.45414681C>T	ENSP00000379434:p.Asp151Asn		Q0VAL5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D151N	ENST00000396128.4	37	c.451	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780114	0.70222	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500	T;T;T	0.76316	-0.42;-0.42;-1.01	5.7	5.7	0.88788	BTB/Kelch-associated (2);	0.039561	0.85682	D	0.000000	T	0.77177	0.4092	L	0.53617	1.68	0.58432	D	0.999994	B;P	0.38711	0.053;0.643	B;B	0.38378	0.059;0.272	T	0.79548	-0.1758	10	0.87932	D	0	.	19.4198	0.94716	0.0:1.0:0.0:0.0	.	151;151	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	N	151;165;151	ENSP00000379434:D151N;ENSP00000347193:D165N;ENSP00000452061:D151N	ENSP00000347193:D165N	D	-	1	0	KLHL28	44484431	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.631000	0.67812	2.696000	0.92011	0.655000	0.94253	GAC	KLHL28	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.378	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	C			45414681	-1	no_errors	ENST00000396128	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45414681	C	T	45414681	3	4	117	1	0	0	0	0	1	0	0	0	8402	826	29	1	1280	1	KLHL28	14	45414681	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5599485	45414681	61934859	903	18371										
SOS2	6655	genome.wustl.edu	37	chr14	50612206	50612206	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaacttacttttcaaaccaGagggtgagatttgtggtatg	10	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:50612206G>C	ENST00000216373.5	-	15	2767	c.2493C>G	c.(2491-2493)ctC>ctG	p.L831L	SOS2_ENST00000543680.1_Silent_p.L798L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	831	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTCAAACCAGAGGGTGAGAT	0.318																																																	0													97	98	97					14																	50612206		2203	4300	6503	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2493C>G	14.37:g.50612206G>C			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L831	ENST00000216373.5	37	c.2493	CCDS9697.1	14																																																																																			SOS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.318	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	G			50612206	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	silent	SNP	0.874	C	C	50612206	G	C	50612206	2	2	117	1	0	0	0	0	0	0	0	1	14967	929	33	1		1	SOS2	14	50612206	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5197525	50612206	56737334	904	18372										
KTN1	3895	genome.wustl.edu	37	chr14	56078923	56078923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcttattcctaccaaaacaGataaaaagaaagcagaaaag	6	7	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:56078923G>C	ENST00000395314.3	+	2	225	c.157G>C	c.(157-159)Gat>Cat	p.D53H	KTN1_ENST00000438792.2_Missense_Mutation_p.D53H|KTN1_ENST00000395311.1_Missense_Mutation_p.D53H|KTN1_ENST00000395308.1_Missense_Mutation_p.D53H|KTN1_ENST00000413890.2_Missense_Mutation_p.D53H|KTN1_ENST00000395309.3_Missense_Mutation_p.D53H|KTN1_ENST00000416613.1_Missense_Mutation_p.D53H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	53					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TACCaaaacagataaaaagaa	0.323			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													30	32	32					14																	56078923		2199	4297	6496	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.157G>C	14.37:g.56078923G>C	ENSP00000378725:p.Asp53His		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.D53H	ENST00000395314.3	37	c.157	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432802	0.83776	.	.	ENSG00000126777	ENST00000557267;ENST00000413890;ENST00000395309;ENST00000555498;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000048	D	0.99152	0.9707	L	0.47716	1.5	0.53688	D	0.999975	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.999;0.994;1.0	D	0.99918	1.1236	10	0.87932	D	0	-15.5797	19.358	0.94422	0.0:0.0:1.0:0.0	.	53;53;53;53	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	H	53	ENSP00000451641:D53H;ENSP00000394992:D53H;ENSP00000378720:D53H;ENSP00000451878:D53H;ENSP00000391964:D53H;ENSP00000378725:D53H;ENSP00000378719:D53H;ENSP00000378722:D53H;ENSP00000388807:D53H	ENSP00000378719:D53H	D	+	1	0	KTN1	55148676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.820000	0.92003	2.565000	0.86533	0.591000	0.81541	GAT	KTN1	-	NULL		0.323	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56078923	1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56078923	G	C	56078923	3	2	117	1	0	0	0	0	1	0	0	0	8605	942	33	1	159	1	KTN1	14	56078923	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5466717	56078923	51270617	905	18373										
C14orf37	145407	genome.wustl.edu	37	chr14	58605892	58605892	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagttggggagtctgctttGaggtaacagagctattttct	12	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:58605892G>A	ENST00000267485.7	-	2	379	c.185C>T	c.(184-186)tCa>tTa	p.S62L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	62						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTGCTTTGAGGTAACAGA	0.433																																																	0													235	234	234					14																	58605892		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.185C>T	14.37:g.58605892G>A	ENSP00000267485:p.Ser62Leu		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.S62L	ENST00000267485.7	37	c.185	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966702	0.92855	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22945	1.93	5.42	5.42	0.78866	.	0.766887	0.11573	N	0.550615	T	0.48333	0.1494	L	0.57536	1.79	0.28672	N	0.905552	D;D;D;D	0.76494	0.996;0.999;0.996;0.996	P;D;P;P	0.65443	0.856;0.935;0.856;0.856	T	0.39396	-0.9616	10	0.54805	T	0.06	-1.1988	15.9513	0.79840	0.0:0.0:1.0:0.0	.	100;62;62;62	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	L	62;100	ENSP00000267485:S62L	ENSP00000267485:S62L	S	-	2	0	C14orf37	57675645	0.998000	0.40836	0.461000	0.27105	0.752000	0.42762	3.787000	0.55439	2.559000	0.86315	0.655000	0.94253	TCA	C14orf37	-	NULL		0.433	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	G	NM_001001872		58605892	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.969	A	A	58605892	G	A	58605892	3	1	117	1	0	0	0	0	1	0	0	0	1775	1294	45	1	2167	1	C14orf37	14	58605892	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2526969	58605892	48743648	906	18374										
SYNE2	23224	genome.wustl.edu	37	chr14	64494308	64494308	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacaggaagcaggctttgctCtacaacatggtctgcaggag	12	9	2	0	rs199743242		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:64494308C>T	ENST00000344113.4	+	43	6723	c.6511C>T	c.(6511-6513)Cta>Tta	p.L2171L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L2171L|SYNE2_ENST00000358025.3_Silent_p.L2171L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2171					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGCTTTGCTCTACAACATGG	0.363																																																	0													103	97	99					14																	64494308		1814	4080	5894	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6511C>T	14.37:g.64494308C>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2171	ENST00000344113.4	37	c.6511	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.363	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64494308	1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	0.997	T	T	64494308	C	T	64494308	2	4	117	1	0	0	0	0	0	0	0	1	15476	912	32	1		1	SYNE2	14	64494308	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5888416	64494308	42855232	907	18375										
SYNE2	23224	genome.wustl.edu	37	chr14	64600860	64600860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttatatctacattgccctCtgtgagtttggtggaagaaa	9	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:64600860C>T	ENST00000344113.4	+	78	14800	c.14588C>T	c.(14587-14589)tCt>tTt	p.S4863F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S1248F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1248F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4780F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1497F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4863F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4863					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACATTGCCCTCTGTGAGTTTG	0.358																																																	0													153	159	157					14																	64600860		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14588C>T	14.37:g.64600860C>T	ENSP00000341781:p.Ser4863Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4863F	ENST00000344113.4	37	c.14588	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157275	0.38119	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59772	0.58;3.89;0.58;0.24;3.94;3.89	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000067	T	0.76111	0.3942	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.991;0.995;0.996	P;P;D	0.65684	0.847;0.862;0.937	T	0.76591	-0.2903	10	0.72032	D	0.01	.	20.3645	0.98876	0.0:1.0:0.0:0.0	.	1248;4863;4863	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	F	4863;1248;4863;4780;4780;1497;1248	ENSP00000350719:S4863F;ENSP00000349969:S1248F;ENSP00000341781:S4863F;ENSP00000452570:S4780F;ENSP00000450831:S1497F;ENSP00000378249:S1248F	ENSP00000261678:S4780F	S	+	2	0	SYNE2	63670613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.187000	0.58344	2.821000	0.97095	0.561000	0.74099	TCT	SYNE2	-	smart_Spectrin/alpha-actinin		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64600860	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64600860	C	T	64600860	3	4	117	1	0	0	0	0	1	0	0	0	15476	913	32	1	14894	1	SYNE2	14	64600860	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	106552	64600860	42748680	908	18376										
SYNE2	23224	genome.wustl.edu	37	chr14	64680939	64680939	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagatgaaaaggaggcctctGagaatgaaacagacatggaa	12	5	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:64680939G>A	ENST00000344113.4	+	106	19296	c.19084G>A	c.(19084-19086)Gag>Aag	p.E6362K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2747K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2747K|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6304K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2996K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6362K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E145K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E240K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6362					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGGCCTCTGAGAATGAAAC	0.463																																																	0													98	101	100					14																	64680939		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19084G>A	14.37:g.64680939G>A	ENSP00000341781:p.Glu6362Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6362K	ENST00000344113.4	37	c.19084	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046230	0.55110	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.58940	0.62;3.93;0.64;0.3;3.95;3.93;3.7;3.17	5.27	5.27	0.74061	.	0.000000	0.49916	D	0.000121	T	0.69949	0.3168	L	0.43152	1.355	0.80722	D	1	D;P;D;D;D	0.71674	0.989;0.892;0.998;0.979;0.994	D;P;D;P;D	0.66716	0.946;0.564;0.91;0.908;0.945	T	0.71421	-0.4598	10	0.66056	D	0.02	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	2747;750;6304;6362;6362	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	K	6362;2747;6362;6304;6310;2996;2747;240;145	ENSP00000350719:E6362K;ENSP00000349969:E2747K;ENSP00000341781:E6362K;ENSP00000452570:E6304K;ENSP00000450831:E2996K;ENSP00000378249:E2747K;ENSP00000451009:E240K;ENSP00000450605:E145K	ENSP00000261678:E6310K	E	+	1	0	SYNE2	63750692	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.781000	0.91805	2.735000	0.93741	0.655000	0.94253	GAG	SYNE2	-	NULL		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64680939	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64680939	G	A	64680939	3	1	117	1	0	0	0	0	1	0	0	0	15476	1291	45	1	19502	1	SYNE2	14	64680939	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	80079	64680939	42668601	909	18377										
FAM71D	161142	genome.wustl.edu	37	chr14	67691851	67691851	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctagttctctcccctcatatCaaatctccttctaatttcct	1	15	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67691851C>G	ENST00000556046.1	+	0	2136							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		cCCCTCATATCAAATCTCCTT	0.373																																																	0													81	74	76					14																	67691851		2202	4298	6500	SO:0001628	intergenic_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 54"	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8			14.37:g.67691851C>G			Q86VN4	Missense_Mutation	SNP	pfam_DUF3699	p.I402M	ENST00000556046.1	37	c.1206		14																																																																																			FAM71D	-	NULL		0.373	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	FAM71D	HGNC	protein_coding	OTTHUMT00000412390.1	C	NM_173526		67691851	1	no_errors	ENST00000311864	ensembl	human	known	70_37	missense	SNP	0.003	G	G	67691851	C	G	67691851	1	3	117	0	1	0	0	0	0	0	0	0	5628	816	29	1		1	FAM71D	14	67691851	IGR	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3010912	67691851	39657689	910	18378										
MPP5	64398	genome.wustl.edu	37	chr14	67759227	67759227	+	Splice_Site	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taccttttcttcttctactaGaaatagaagacttgttttct							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67759227G>A	ENST00000261681.4	+	4	1028		c.e4-1		MPP5_ENST00000555925.1_Splice_Site	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TCTTCTACTAGAAATAGAAGA	0.303																																																	0													49	47	48					14																	67759227		2202	4299	6501	SO:0001630	splice_region_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.368-1G>A	14.37:g.67759227G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Splice_Site	SNP	-	e2-1	ENST00000261681.4	37	c.368-1	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661816	0.67700	.	.	ENSG00000072415	ENST00000261681;ENST00000555925;ENST00000557783	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6084	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MPP5	66828980	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.953000	0.93041	2.630000	0.89119	0.460000	0.39030	.	MPP5	-	-		0.303	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474	Intron	67759227	1	no_errors	ENST00000261681	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	67759227	G	A	67759227	5	1	117	1	0	0	0	0	0	0	1	0	9760	956	33	1	373	1	MPP5	14	67759227	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	67376	67759227	39590313	911	18379	104	2								
MPP5	64398	genome.wustl.edu	37	chr14	67759236	67759236	+	Missense_Mutation	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcttctactagaaatagaaGacttgttttcttcacttaaa							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67759236G>A	ENST00000261681.4	+	4	1037	c.376G>A	c.(376-378)Gac>Aac	p.D126N	MPP5_ENST00000555925.1_Missense_Mutation_p.D92N	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	126	Interaction with PARD6B. {ECO:0000250}.|L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAATAGAAGACTTGTTTTC	0.308																																																	0													59	56	57					14																	67759236		2202	4300	6502	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.376G>A	14.37:g.67759236G>A	ENSP00000261681:p.Asp126Asn		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D126N	ENST00000261681.4	37	c.376	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891648	0.72524	.	.	ENSG00000072415	ENST00000261681;ENST00000555925;ENST00000557783	T;T	0.08282	3.11;3.11	5.6	5.6	0.85130	L27-N (1);L27 (2);	0.222686	0.48767	D	0.000174	T	0.08268	0.0206	N	0.24115	0.695	0.80722	D	1	B	0.31459	0.324	B	0.30179	0.112	T	0.34750	-0.9816	10	0.34782	T	0.22	.	19.6084	0.95588	0.0:0.0:1.0:0.0	.	126	Q8N3R9	MPP5_HUMAN	N	126;92;92	ENSP00000261681:D126N;ENSP00000451488:D92N	ENSP00000261681:D126N	D	+	1	0	MPP5	66828989	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.953000	0.93041	2.630000	0.89119	0.460000	0.39030	GAC	MPP5	-	pfam_L27_N,smart_L27,pfscan_L27		0.308	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67759236	1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67759236	G	A	67759236	3	1	117	1	0	0	0	0	1	0	0	0	9760	942	33	1	382	1	MPP5	14	67759236	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9	67759236	39590304	912	18380	104	2								
MPP5	64398	genome.wustl.edu	37	chr14	67759340	67759340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttcaaaataaggatttccaGaatgcatttaagatacacaa	6	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67759340G>A	ENST00000261681.4	+	4	1141	c.480G>A	c.(478-480)caG>caA	p.Q160Q	MPP5_ENST00000555925.1_Silent_p.Q126Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	160	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGGATTTCCAGAATGCATTTA	0.383																																																	0													153	137	142					14																	67759340		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.480G>A	14.37:g.67759340G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Q160	ENST00000261681.4	37	c.480	CCDS9779.1	14																																																																																			MPP5	-	pfam_L27_N,smart_L27,pfscan_L27		0.383	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67759340	1	no_errors	ENST00000261681	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67759340	G	A	67759340	2	1	117	1	0	0	0	0	0	0	0	1	9760	933	33	1		1	MPP5	14	67759340	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	104	67759340	39590200	913	18381										
HEATR4	399671	genome.wustl.edu	37	chr14	73969681	73969681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctcacttccttattccagtCattccacatcagctggatca	4	15	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:73969681C>T	ENST00000553558.1	-	11	2344	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	HEATR4_ENST00000560393.1_Missense_Mutation_p.D628N|HEATR4_ENST00000334988.2_Missense_Mutation_p.D675N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	675										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTATTCCAGTCATTCCACATC	0.428																																																	0													130	114	120					14																	73969681		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2023G>A	14.37:g.73969681C>T	ENSP00000450444:p.Asp675Asn		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D675N	ENST00000553558.1	37	c.2023	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589637	0.86851	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.17528	2.27	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000041	T	0.38374	0.1038	L	0.55481	1.735	0.40723	D	0.98267	D	0.89917	1.0	D	0.87578	0.998	T	0.14671	-1.0464	10	0.87932	D	0	-15.0978	15.9376	0.79723	0.0:1.0:0.0:0.0	.	675	Q86WZ0	HEAT4_HUMAN	N	675;628	ENSP00000450444:D675N	ENSP00000335447:D628N	D	-	1	0	HEATR4	73039434	0.997000	0.39634	0.998000	0.56505	0.884000	0.51177	4.690000	0.61731	2.493000	0.84123	0.455000	0.32223	GAC	HEATR4	-	superfamily_ARM-type_fold		0.428	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73969681	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.998	T	T	73969681	C	T	73969681	3	4	117	1	0	0	0	0	1	0	0	0	7050	826	29	1	1089	1	HEATR4	14	73969681	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6210341	73969681	33379859	914	18382										
YLPM1	56252	genome.wustl.edu	37	chr14	75302082	75302082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgaaagtggtcacctggctGaaaaagccctcaatcgaacc	9	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75302082G>A	ENST00000552421.1	+	19	4415	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	YLPM1_ENST00000325680.7_Missense_Mutation_p.E2137K			P49750	YLPM1_HUMAN	YLP motif containing 1	1942					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCACCTGGCTGAAAAAGCCCT	0.418																																																	0													108	110	109					14																	75302082		1885	4104	5989	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4291G>A	14.37:g.75302082G>A	ENSP00000447921:p.Glu1431Lys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.E2137K	ENST00000552421.1	37	c.6409		14	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234625	0.58886	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.32023	1.47;1.47	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.49150	0.1540	L	0.46157	1.445	0.80722	D	1	D	0.60575	0.988	P	0.60682	0.878	T	0.37220	-0.9715	10	0.62326	D	0.03	-14.7467	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2137	P49750-4	.	K	1431;2137	ENSP00000447921:E1431K;ENSP00000324463:E2137K	ENSP00000324463:E2137K	E	+	1	0	YLPM1	74371835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.094000	0.71431	2.797000	0.96272	0.655000	0.94253	GAA	YLPM1	-	NULL		0.418	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75302082	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75302082	G	A	75302082	3	1	117	1	0	0	0	0	1	0	0	0	17517	1291	45	1	6487	1	YLPM1	14	75302082	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1332401	75302082	32047458	915	18383										
YLPM1	56252	genome.wustl.edu	37	chr14	75302098	75302098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctgaaaaagccctcaatcGaaccaaatatatatgagact	7	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75302098G>A	ENST00000552421.1	+	19	4431	c.4307G>A	c.(4306-4308)cGa>cAa	p.R1436Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2142Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1947					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCTCAATCGAACCAAATAT	0.413																																																	0													96	97	97					14																	75302098		1872	4103	5975	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4307G>A	14.37:g.75302098G>A	ENSP00000447921:p.Arg1436Gln		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.R2142Q	ENST00000552421.1	37	c.6425		14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179110	0.78564	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.36699	1.24;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000018	T	0.49626	0.1568	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45293	-0.9271	10	0.46703	T	0.11	-8.0289	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2142	P49750-4	.	Q	1436;2142	ENSP00000447921:R1436Q;ENSP00000324463:R2142Q	ENSP00000324463:R2142Q	R	+	2	0	YLPM1	74371851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CGA	YLPM1	-	NULL		0.413	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75302098	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75302098	G	A	75302098	3	1	117	1	0	0	0	0	1	0	0	0	17517	1058	37	1	6503	1	YLPM1	14	75302098	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	16	75302098	32047442	916	18384										
NEK9	91754	genome.wustl.edu	37	chr14	75573250	75573250	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacttccttgtttcgtgtcaGaaccaccacatgattatctc	6	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75573250G>A	ENST00000238616.5	-	12	1641	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	495					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TTTCGTGTCAGAACCACCACA	0.493																																																	0													192	175	181					14																	75573250		2203	4300	6503	SO:0001819	synonymous_variant	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1483C>T	14.37:g.75573250G>A			Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L495	ENST00000238616.5	37	c.1483	CCDS9839.1	14																																																																																			NEK9	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.493	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	G	NM_033116		75573250	-1	no_errors	ENST00000238616	ensembl	human	known	70_37	silent	SNP	0.997	A	A	75573250	G	A	75573250	2	1	117	1	0	0	0	0	0	0	0	1	10355	933	33	1		1	NEK9	14	75573250	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	271152	75573250	31776290	917	18385										
JDP2	122953	genome.wustl.edu	37	chr14	75935999	75935999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgttggtatacaggaatccGagcggctggaactcatgaac	13	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75935999G>A	ENST00000435893.2	+	4	586	c.313G>A	c.(313-315)Gag>Aag	p.E105K	JDP2_ENST00000419727.2_Missense_Mutation_p.E105K|JDP2_ENST00000267569.5_Missense_Mutation_p.E116K|JDP2_ENST00000437176.1_Missense_Mutation_p.E105K	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	105	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	ACAGGAATCCGAGCGGCTGGA	0.602																																																	0													60	52	55					14																	75935999		2203	4300	6503	SO:0001583	missense	122953			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"basic leucine zipper proteins"	17546	protein-coding gene	gene with protein product	"progesterone receptor co-activator"	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.313G>A	14.37:g.75935999G>A	ENSP00000399587:p.Glu105Lys		J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E116K	ENST00000435893.2	37	c.346	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862320	0.91511	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.71	4.71	0.59529	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88804	0.3287	10	0.72032	D	0.01	-5.0828	17.8398	0.88712	0.0:0.0:1.0:0.0	.	105	Q8WYK2	JDP2_HUMAN	K	105;105;105;116	ENSP00000415558:E105K;ENSP00000409787:E105K;ENSP00000399587:E105K;ENSP00000267569:E116K	ENSP00000267569:E116K	E	+	1	0	JDP2	75005752	1.000000	0.71417	0.952000	0.39060	0.580000	0.36256	9.526000	0.98042	2.445000	0.82738	0.563000	0.77884	GAG	JDP2	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.602	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	G	NM_130469		75935999	1	no_errors	ENST00000267569	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75935999	G	A	75935999	3	1	117	1	0	0	0	0	1	0	0	0	7967	1059	37	1	360	1	JDP2	14	75935999	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	362749	75935999	31413541	918	18386										
C14orf4	64207	genome.wustl.edu	37	chr14	77492702	77492702	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaagcgcacggcttcgggGagcaggtctccaagcaggcg	16	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:77492702G>A	ENST00000238647.3	-	1	2332	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	478					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGGCTTCGGGGAGCAGGTCTC	0.657																																																	0													13	14	14					14																	77492702		2200	4296	6496	SO:0001819	synonymous_variant	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1434C>T	14.37:g.77492702G>A			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.L478	ENST00000238647.3	37	c.1434	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.657	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	G	NM_024496		77492702	-1	no_errors	ENST00000238647	ensembl	human	known	70_37	silent	SNP	0.908	A	A	77492702	G	A	77492702	2	1	117	1	0	0	0	0	0	0	0	1	1777	1161	41	1		1	C14orf4	14	77492702	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1556703	77492702	29856838	919	18387										
VIPAR	63894	genome.wustl.edu	37	chr14	77893965	77893965	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtagtcaatgccacttaattCttccatcgaatttgctgtgg	8	9	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:77893965C>T	ENST00000553888.1	-	20	1986	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	VIPAS39_ENST00000557658.1_Silent_p.K492K|VIPAS39_ENST00000448935.2_Silent_p.K443K|VIPAS39_ENST00000556412.1_Silent_p.K518K|VIPAS39_ENST00000327028.4_Silent_p.K479K|VIPAS39_ENST00000343765.2_Silent_p.K492K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	492					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CCACTTAATTCTTCCATCGAA	0.453																																																	0													133	109	117					14																	77893965		2203	4300	6503	SO:0001819	synonymous_variant	63894			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1476G>A	14.37:g.77893965C>T			B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	pfam_Golgin_subfamily_A_member_5	p.K492	ENST00000553888.1	37	c.1476	CCDS9862.1	14																																																																																			VIPAS39	-	NULL		0.453	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	C	NM_022067		77893965	-1	no_errors	ENST00000343765	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77893965	C	T	77893965	2	4	117	1	0	0	0	0	0	0	0	1	17199	912	32	1		1	VIPAR	14	77893965	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	401263	77893965	29455575	920	18388										
GTF2A1	2957	genome.wustl.edu	37	chr14	81659136	81659136	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagatttgctgaggctggatGatgacacctgtctgtggtga	14	6	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:81659136G>A	ENST00000553612.1	-	7	1063	c.660C>T	c.(658-660)atC>atT	p.I220I	GTF2A1_ENST00000434192.2_Silent_p.I181I	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	220					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GAGGCTGGATGATGACACCTG	0.448																																																	0													149	148	148					14																	81659136		2203	4300	6503	SO:0001819	synonymous_variant	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.660C>T	14.37:g.81659136G>A			Q3KNQ9	Silent	SNP	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx	p.I220	ENST00000553612.1	37	c.660	CCDS9873.1	14																																																																																			GTF2A1	-	pfam_TFIIA_asu/bsu		0.448	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A1	HGNC	protein_coding	OTTHUMT00000413309.1	G	NM_015859		81659136	-1	no_errors	ENST00000553612	ensembl	human	known	70_37	silent	SNP	1.000	A	A	81659136	G	A	81659136	2	1	117	1	0	0	0	0	0	0	0	1	6872	1280	45	1		1	GTF2A1	14	81659136	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3765171	81659136	25690404	921	18389										
GTF2A1	2957	genome.wustl.edu	37	chr14	81670289	81670289	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgctgggtctgcgcttgctGaggtactgtctgctgaggct	15	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:81670289G>A	ENST00000553612.1	-	3	695	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.Q59*|SNORA79_ENST00000408376.1_RNA	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	98					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGCGCTTGCTGAGGTACTGTc	0.488																																																	0													137	99	112					14																	81670289		2203	4300	6503	SO:0001587	stop_gained	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.292C>T	14.37:g.81670289G>A	ENSP00000452454:p.Gln98*		Q3KNQ9	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx	p.Q98*	ENST00000553612.1	37	c.292	CCDS9873.1	14	.	.	.	.	.	.	.	.	.	.	G	40	7.946775	0.98577	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	.	.	.	5.64	5.64	0.86602	.	0.138662	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-1.2638	19.691	0.96000	0.0:0.0:1.0:0.0	.	.	.	.	X	98;59;59	.	ENSP00000298173:Q98X	Q	-	1	0	GTF2A1	80740042	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.426000	0.90273	2.655000	0.90218	0.563000	0.77884	CAG	GTF2A1	-	pfam_TFIIA_asu/bsu		0.488	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A1	HGNC	protein_coding	OTTHUMT00000413309.1	G	NM_015859		81670289	-1	no_errors	ENST00000553612	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	81670289	G	A	81670289	4	1	117	1	0	0	0	0	0	1	0	0	6872	1299	45	1	866	1	GTF2A1	14	81670289	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	11153	81670289	25679251	922	18390										
RPS6KA5	9252	genome.wustl.edu	37	chr14	91413850	91413850	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcatgctctgtgaaacgctCtctttgagaaagatgagtaa	9	8	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:91413850C>G	ENST00000261991.3	-	4	612	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E147Q|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E68Q	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	147	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GTGAAACGCTCTCTTTGAGAA	0.343																																																	0													108	106	107					14																	91413850		2203	4300	6503	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.439G>C	14.37:g.91413850C>G	ENSP00000261991:p.Glu147Gln		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E147Q	ENST00000261991.3	37	c.439	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288943	0.80914	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.24723	1.84;1.84;1.84	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056954	0.64402	D	0.000001	T	0.35970	0.0950	N	0.21583	0.68	0.58432	D	0.99999	B;D	0.56968	0.023;0.978	B;D	0.62955	0.135;0.909	T	0.05750	-1.0866	10	0.30078	T	0.28	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	147;147	O75582-2;O75582	.;KS6A5_HUMAN	Q	147;68;147	ENSP00000261991:E147Q;ENSP00000442803:E68Q;ENSP00000402787:E147Q	ENSP00000261991:E147Q	E	-	1	0	RPS6KA5	90483603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.502000	0.84385	0.591000	0.81541	GAG	RPS6KA5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.343	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	C	NM_004755		91413850	-1	no_errors	ENST00000261991	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91413850	C	G	91413850	3	3	117	1	0	0	0	0	1	0	0	0	13684	922	32	1	2031	1	RPS6KA5	14	91413850	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9743561	91413850	15935690	923	18391										
SMEK1	55671	genome.wustl.edu	37	chr14	91928486	91928486	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactacagcttctccatcttCcatgtcatcttcatctgtgt	4	14	6	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:91928486C>G	ENST00000554943.1	-	13	2186	c.2071G>C	c.(2071-2073)Gaa>Caa	p.E691Q	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E452Q|SMEK1_ENST00000555462.1_Missense_Mutation_p.E452Q|SMEK1_ENST00000337238.4_Missense_Mutation_p.E678Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.E678Q			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	691					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTCCATCTTCCATGTCATCT	0.358																																																	0													178	139	152					14																	91928486		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2071G>C	14.37:g.91928486C>G	ENSP00000450883:p.Glu691Gln		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E691Q	ENST00000554943.1	37	c.2071		14	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972984	0.92919	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T	0.55234	0.53;0.53;0.56;0.53	5.72	5.72	0.89469	.	0.041695	0.85682	D	0.000000	T	0.57961	0.2089	L	0.60455	1.87	0.80722	D	1	P;P;P	0.50819	0.939;0.87;0.498	P;B;B	0.45474	0.482;0.299;0.23	T	0.61222	-0.7106	10	0.56958	D	0.05	-11.2564	19.876	0.96870	0.0:1.0:0.0:0.0	.	452;691;678	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Q	678;678;452;691;452;678	ENSP00000450864:E678Q;ENSP00000337125:E678Q;ENSP00000450883:E691Q;ENSP00000452596:E678Q	ENSP00000337125:E678Q	E	-	1	0	SMEK1	90998239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.709000	0.92574	0.591000	0.81541	GAA	SMEK1	-	NULL		0.358	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91928486	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91928486	C	G	91928486	3	3	117	1	0	0	0	0	1	0	0	0	14823	864	30	1	442	1	SMEK1	14	91928486	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	514636	91928486	15421054	924	18392										
CATSPERB	79820	genome.wustl.edu	37	chr14	92083997	92083997	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tacataactgtcagtatcatCaaaagtcacttcagctgtaa	5	9	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92083997C>G	ENST00000256343.3	-	20	2500	c.2344G>C	c.(2344-2346)Gat>Cat	p.D782H		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	782					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCAGTATCATCAAAAGTCACT	0.333																																																	0													97	88	91					14																	92083997		2203	4300	6503	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2344G>C	14.37:g.92083997C>G	ENSP00000256343:p.Asp782His		A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D782H	ENST00000256343.3	37	c.2344	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505673	0.44558	.	.	ENSG00000133962	ENST00000256343	T	0.57595	0.39	5.76	5.76	0.90799	.	0.273852	0.25159	N	0.032699	T	0.70876	0.3274	M	0.62723	1.935	0.44036	D	0.996762	D	0.89917	1.0	D	0.97110	1.0	T	0.71347	-0.4620	10	0.62326	D	0.03	-32.9556	16.8932	0.86093	0.0:1.0:0.0:0.0	.	782	Q9H7T0	CTSRB_HUMAN	H	782	ENSP00000256343:D782H	ENSP00000256343:D782H	D	-	1	0	CATSPERB	91153750	1.000000	0.71417	0.700000	0.30305	0.092000	0.18411	3.929000	0.56514	2.733000	0.93635	0.467000	0.42956	GAT	CATSPERB	-	NULL		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92083997	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	missense	SNP	0.996	G	G	92083997	C	G	92083997	3	3	117	1	0	0	0	0	1	0	0	0	2696	826	29	1	1038	1	CATSPERB	14	92083997	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	155511	92083997	15265543	925	18393										
TRIP11	9321	genome.wustl.edu	37	chr14	92471742	92471742	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgcagatgattattttcctCtttcatggatccaagacttc	6	9	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92471742C>G	ENST00000267622.4	-	11	2951	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	860					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTATTTTCCTCTTTCATGGAT	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													119	108	112					14																	92471742		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2578G>C	14.37:g.92471742C>G	ENSP00000267622:p.Glu860Gln		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E860Q	ENST00000267622.4	37	c.2578	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.040060|3.040060	0.55003|0.55003	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.13538|.	2.58|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76307|0.76307	0.3969|0.3969	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79784|.	0.993;0.99|.	T|T	0.72297|0.72297	-0.4335|-0.4335	10|5	0.32370|.	T|.	0.25|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	596;860|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	860;596|575	ENSP00000267622:E860Q|.	ENSP00000267622:E860Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91541495|91541495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	7.580000|7.580000	0.82523|0.82523	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAG|AGA	TRIP11	-	NULL		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92471742	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92471742	C	G	92471742	3	3	117	1	0	0	0	0	1	0	0	0	16586	922	32	1	3405	1	TRIP11	14	92471742	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	387745	92471742	14877798	926	18394										
TRIP11	9321	genome.wustl.edu	37	chr14	92474016	92474016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgattctgtctgtccaattCttctatctcagctatcagtg	6	10	6	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92474016C>G	ENST00000267622.4	-	10	1868	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	499					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGTCCAATTCTTCTATCTCA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													152	147	149					14																	92474016		2202	4298	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1495G>C	14.37:g.92474016C>G	ENSP00000267622:p.Glu499Gln		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E499Q	ENST00000267622.4	37	c.1495	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701444|2.701444	0.48307|0.48307	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.09073|.	3.02|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75635|0.75635	0.3876|0.3876	M|M	0.77103|0.77103	2.36|2.36	0.45690|0.45690	D|D	0.998603|0.998603	P;D|.	0.89917|.	0.875;1.0|.	B;D|.	0.85130|.	0.341;0.997|.	T|T	0.76873|0.76873	-0.2798|-0.2798	10|5	0.66056|.	D|.	0.02|.	.|.	15.5041|15.5041	0.75725|0.75725	0.0:0.9339:0.0:0.0661|0.0:0.9339:0.0:0.0661	.|.	235;499|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	499;235|214	ENSP00000267622:E499Q|.	ENSP00000267622:E499Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91543769|91543769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.175000|0.175000	0.22909|0.22909	4.852000|4.852000	0.62904|0.62904	1.569000|1.569000	0.49696|0.49696	-0.291000|-0.291000	0.09656|0.09656	GAA|AGA	TRIP11	-	NULL		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92474016	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92474016	C	G	92474016	3	3	117	1	0	0	0	0	1	0	0	0	16586	922	32	1	4492	1	TRIP11	14	92474016	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2274	92474016	14875524	927	18395										
TRIP11	9321	genome.wustl.edu	37	chr14	92505916	92505916	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acttcctccgtgccctccatCagcatatcctttgtaaagtt	5	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92505916C>A	ENST00000267622.4	-	1	487	c.114G>T	c.(112-114)ctG>ctT	p.L38L	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	38					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCCCTCCATCAGCATATCCT	0.577			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													78	64	69					14																	92505916		2203	4300	6503	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.114G>T	14.37:g.92505916C>A			B2RUT2|O14689|O15154|O95949	Silent	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.L38	ENST00000267622.4	37	c.114	CCDS9899.1	14																																																																																			TRIP11	-	NULL		0.577	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92505916	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	silent	SNP	0.167	A	A	92505916	C	A	92505916	2	1	117	1	0	0	0	0	0	0	0	1	16586	813	29	3		3	TRIP11	14	92505916	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	31900	92505916	14843624	928	18396										
CPSF2	53981	genome.wustl.edu	37	chr14	92608640	92608640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcaggattgggtgtttactCattggcactcctaaataatg	10	7	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92608640C>T	ENST00000298875.4	+	8	1079	c.794C>T	c.(793-795)tCa>tTa	p.S265L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	265					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTGTTTACTCATTGGCACTC	0.398																																					Ovarian(78;28 1788 18702 44111)												0													267	247	253					14																	92608640		2203	4300	6503	SO:0001583	missense	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.794C>T	14.37:g.92608640C>T	ENSP00000298875:p.Ser265Leu		B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S265L	ENST00000298875.4	37	c.794	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.312846	0.95655	.	.	ENSG00000165934	ENST00000298875	T	0.44881	0.91	5.5	5.5	0.81552	Beta-Casp domain (1);	0.059284	0.64402	D	0.000001	T	0.57460	0.2055	M	0.81682	2.555	0.80722	D	1	P	0.39131	0.661	P	0.44647	0.456	T	0.63093	-0.6714	10	0.72032	D	0.01	.	19.4	0.94625	0.0:1.0:0.0:0.0	.	265	Q9P2I0	CPSF2_HUMAN	L	265	ENSP00000298875:S265L	ENSP00000298875:S265L	S	+	2	0	CPSF2	91678393	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	7.723000	0.84788	2.575000	0.86900	0.563000	0.77884	TCA	CPSF2	-	pfam_Beta_Casp		0.398	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	C			92608640	1	no_errors	ENST00000298875	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92608640	C	T	92608640	3	4	117	1	0	0	0	0	1	0	0	0	3830	838	29	1	816	1	CPSF2	14	92608640	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	102724	92608640	14740900	929	18397										
CHGA	1113	genome.wustl.edu	37	chr14	93397861	93397861	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggacagtgagggcctctctCagggtctggtggacagagag	18	8	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:93397861C>T	ENST00000216492.5	+	6	902	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	208					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGGCCTCTCTCAGGGTCTGGT	0.652																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													26	29	28					14																	93397861		2203	4299	6502	SO:0001587	stop_gained	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.622C>T	14.37:g.93397861C>T	ENSP00000216492:p.Gln208*		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Nonsense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.Q208*	ENST00000216492.5	37	c.622	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	38	7.159555	0.98103	.	.	ENSG00000100604	ENST00000216492	.	.	.	4.34	3.43	0.39272	.	0.428002	0.21591	N	0.072085	.	.	.	.	.	.	0.22050	N	0.9994	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.4728	10.9862	0.47523	0.1864:0.8136:0.0:0.0	.	.	.	.	X	208	.	ENSP00000216492:Q208X	Q	+	1	0	CHGA	92467614	0.291000	0.24352	0.011000	0.14972	0.782000	0.44232	0.992000	0.29667	0.917000	0.36895	0.555000	0.69702	CAG	CHGA	-	pfam_Granin		0.652	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	C	NM_001275		93397861	1	no_errors	ENST00000216492	ensembl	human	known	70_37	nonsense	SNP	0.048	T	T	93397861	C	T	93397861	4	4	117	1	0	0	0	0	0	1	0	0	3343	827	29	1	644	1	CHGA	14	93397861	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	789221	93397861	13951679	930	18398										
AK7	122481	genome.wustl.edu	37	chr14	96864457	96864457	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttcgcttgaagaaattacaGaggaagaggaagaggaagat	13	4	0	6			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:96864457G>A	ENST00000267584.4	+	2	195	c.151G>A	c.(151-153)Gag>Aag	p.E51K	AK7_ENST00000555570.1_Missense_Mutation_p.E51K	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	51	Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGAAATTACAGAGGAAGAGGA	0.443																																																	0													103	103	103					14																	96864457		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.151G>A	14.37:g.96864457G>A	ENSP00000267584:p.Glu51Lys		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.E51K	ENST00000267584.4	37	c.151	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953992	0.92660	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.58506	0.33	5.35	5.35	0.76521	.	0.257771	0.37393	N	0.002106	T	0.75874	0.3909	M	0.74258	2.255	0.48632	D	0.999684	P;D	0.89917	0.786;1.0	B;D	0.87578	0.22;0.998	T	0.76299	-0.3010	10	0.46703	T	0.11	-22.3889	16.8264	0.85933	0.0:0.0:1.0:0.0	.	51;51	Q96M32;G3V365	KAD7_HUMAN;.	K	51	ENSP00000267584:E51K	ENSP00000267584:E51K	E	+	1	0	AK7	95934210	1.000000	0.71417	0.875000	0.34327	0.965000	0.64279	6.263000	0.72521	2.528000	0.85240	0.491000	0.48974	GAG	AK7	-	NULL		0.443	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G			96864457	1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	0.963	A	A	96864457	G	A	96864457	3	1	117	1	0	0	0	0	1	0	0	0	444	943	33	1	157	1	AK7	14	96864457	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3466596	96864457	10485083	931	18399										
PPP2R5C	5527	genome.wustl.edu	37	chr14	102372772	102372772	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctctattactggaataatGaatacatcatgagtttaatc	5	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:102372772G>C	ENST00000334743.5	+	10	1105	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E353Q|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E353Q|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E408Q|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E384Q|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E353Q	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	353					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGGAATAATGAATACATCAT	0.468																																																	0													112	106	108					14																	102372772		2203	4300	6503	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1057G>C	14.37:g.102372772G>C	ENSP00000333905:p.Glu353Gln		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E384Q	ENST00000334743.5	37	c.1150	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735055	0.89482	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.53857	0.61;0.63;0.6;0.65;0.61	4.73	4.73	0.59995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93898	3.47	0.80722	D	1	D;D;D;P;D	0.89917	1.0;0.998;1.0;0.91;0.999	D;D;D;P;D	0.76071	0.978;0.944;0.987;0.535;0.987	D	0.86237	0.1641	10	0.87932	D	0	-23.5776	18.076	0.89427	0.0:0.0:1.0:0.0	.	384;353;353;353;408	F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;2A5G_HUMAN;.;.	Q	384;408;382;353;353;353;353	ENSP00000412324:E384Q;ENSP00000329009:E408Q;ENSP00000450931:E382Q;ENSP00000262239:E353Q;ENSP00000333905:E353Q	ENSP00000329009:E408Q	E	+	1	0	PPP2R5C	101442525	1.000000	0.71417	0.917000	0.36280	0.835000	0.47333	9.525000	0.98039	2.331000	0.79229	0.563000	0.77884	GAA	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.468	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	G	NM_002719		102372772	1	no_errors	ENST00000422945	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102372772	G	C	102372772	3	2	117	1	0	0	0	0	1	0	0	0	12421	1291	45	1	1464	1	PPP2R5C	14	102372772	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5508315	102372772	4976768	932	18400										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102474550	102474550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttgtgggcctttgccaggtGggtgcctggggctgctttga	17	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:102474550G>A	ENST00000360184.4	+	29	6017	c.5853G>A	c.(5851-5853)gtG>gtA	p.V1951V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1951	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGCCAGGTGGGTGCCTGGG	0.597																																																	0													71	69	70					14																	102474550		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5853G>A	14.37:g.102474550G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V1951	ENST00000360184.4	37	c.5853	CCDS9966.1	14																																																																																			DYNC1H1	-	smart_AAA+_ATPase		0.597	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102474550	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	A	A	102474550	G	A	102474550	2	1	117	1	0	0	0	0	0	0	0	1	4851	1335	47	4		4	DYNC1H1	14	102474550	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	101778	102474550	4874990	933	18401										
PPP1R13B	23368	genome.wustl.edu	37	chr14	104219456	104219456	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttccaattgctgactaagctGatcaacccttaaaattgcag	6	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:104219456G>A	ENST00000202556.9	-	7	991	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	237	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGACTAAGCTGATCAACCCTT	0.413																																																	0													157	142	146					14																	104219456		1860	4098	5958	SO:0001587	stop_gained	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.709C>T	14.37:g.104219456G>A	ENSP00000202556:p.Gln237*		B2RMX5|O94870	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.Q237*	ENST00000202556.9	37	c.709	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.592928	0.98378	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9238	0.97097	0.0:0.0:1.0:0.0	.	.	.	.	X	237;104	.	ENSP00000202556:Q237X	Q	-	1	0	PPP1R13B	103289209	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.127000	0.94417	2.712000	0.92718	0.650000	0.86243	CAG	PPP1R13B	-	NULL		0.413	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	G	NM_015316		104219456	-1	no_errors	ENST00000202556	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	104219456	G	A	104219456	4	1	117	1	0	0	0	0	0	1	0	0	12384	1299	45	1	2607	1	PPP1R13B	14	104219456	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1744906	104219456	3130084	934	18402										
C14orf2	9556	genome.wustl.edu	37	chr14	104380302	104380302	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagcaaaaatcttacctttCaaagccttacttcttttatc	3	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:104380302C>T	ENST00000554880.1	-	3	297	c.144G>A	c.(142-144)ttG>ttA	p.L48L	C14orf2_ENST00000557040.1_Silent_p.L48L|C14orf2_ENST00000554713.1_Silent_p.*100*|C14orf2_ENST00000553449.1_5'UTR|C14orf2_ENST00000286953.3_Silent_p.L48L|C14orf2_ENST00000553430.1_Silent_p.L48L|C14orf2_ENST00000555030.1_Silent_p.*100*|C14orf2_ENST00000414262.2_Silent_p.L65L			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	48						integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				kidney(1)	1				Epithelial(152;0.223)		TCTTACCTTTCAAAGCCTTAC	0.313																																																	0													71	61	65					14																	104380302		2201	4299	6500	SO:0001819	synonymous_variant	9556			AF054175	CCDS9986.1, CCDS45169.1	14q32.33	2013-02-18			ENSG00000156411	ENSG00000156411			1188	protein-coding gene	gene with protein product	"6.8 kDa mitochondrial proteolipid"	604573				9653160	Standard	NM_001127393		Approved	MP68	uc001yoi.4	P56378	OTTHUMG00000171601	ENST00000554880.1:c.144G>A	14.37:g.104380302C>T			B2R588|G3V5Q3|Q86TT7	Silent	SNP	pfam_Mit_proteolip	p.L65	ENST00000554880.1	37	c.195	CCDS9986.1	14																																																																																			C14orf2	-	pfam_Mit_proteolip		0.313	C14orf2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf2	HGNC	protein_coding	OTTHUMT00000414398.1	C	NM_001127393		104380302	-1	no_errors	ENST00000414262	ensembl	human	known	70_37	silent	SNP	0.905	T	T	104380302	C	T	104380302	2	4	117	1	0	0	0	0	0	0	0	1	1772	825	29	1		1	C14orf2	14	104380302	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	160846	104380302	2969238	935	18403										
INF2	64423	genome.wustl.edu	37	chr14	105178822	105178822	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctccaacctgaagaagcttCtggagaccgagcggaaggtg	14	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:105178822C>T	ENST00000392634.4	+	17	2654	c.2542C>T	c.(2542-2544)Ctg>Ttg	p.L848L	INF2_ENST00000330634.7_Silent_p.L848L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	848	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAAGAAGCTTCTGGAGACCGA	0.652																																																	0													33	36	35					14																	105178822		1974	4159	6133	SO:0001819	synonymous_variant	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2542C>T	14.37:g.105178822C>T			Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.L848	ENST00000392634.4	37	c.2542	CCDS9989.2	14																																																																																			INF2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	C	NM_022489		105178822	1	no_errors	ENST00000392634	ensembl	human	known	70_37	silent	SNP	0.926	T	T	105178822	C	T	105178822	2	4	117	1	0	0	0	0	0	0	0	1	7754	912	32	1		1	INF2	14	105178822	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	798520	105178822	2170718	936	18404										
NIPA2	81614	genome.wustl.edu	37	chr15	23014466	23014466	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacgctgagagctcctagtgGagtcactagagtggctggtg	15	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:23014466G>C	ENST00000337451.3	-	6	871	c.259C>G	c.(259-261)Cca>Gca	p.P87A	NIPA2_ENST00000539711.2_Missense_Mutation_p.P68A|NIPA2_ENST00000398013.3_Missense_Mutation_p.P87A|NIPA2_ENST00000359727.4_Missense_Mutation_p.P68A|NIPA2_ENST00000398014.2_Missense_Mutation_p.P87A	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	87						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCTCCTAGTGGAGTCACTAGA	0.438																																																	0													56	50	52					15																	23014466		2203	4300	6503	SO:0001583	missense	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.259C>G	15.37:g.23014466G>C	ENSP00000337618:p.Pro87Ala		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.P87A	ENST00000337451.3	37	c.259	CCDS10010.1	15	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666612	0.67814	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.96168	-3.93;-3.93;-3.93	5.06	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	H	0.95884	3.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.984	D	0.99501	1.0953	10	0.72032	D	0.01	-16.3809	15.0827	0.72127	0.0:0.0:0.8568:0.1432	.	68;87	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	A	87;87;68;87;68	ENSP00000337618:P87A;ENSP00000381096:P87A;ENSP00000352762:P68A	ENSP00000337618:P87A	P	-	1	0	NIPA2	20565907	1.000000	0.71417	0.957000	0.39632	0.487000	0.33371	9.624000	0.98398	1.236000	0.43740	-0.181000	0.13052	CCA	NIPA2	-	pfam_Mg_trans_NIPA,pfam_DMT		0.438	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA2	HGNC	protein_coding	OTTHUMT00000251137.1	G	NM_030922		23014466	-1	no_errors	ENST00000337451	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23014466	G	C	23014466	3	2	117	1	0	0	0	0	1	0	0	0	10447	1174	41	1	835	1	NIPA2	15	23014466	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		23014466	79516926	937	18405										
C15orf56	644809	genome.wustl.edu	37	chr15	40544515	40544515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctccaggtcgggtctccgcGaggcggccactgggccgtgg	17	14	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40544515G>T	ENST00000319503.3	-	2	478	c.457C>A	c.(457-459)Cgc>Agc	p.R153S	PAK6_ENST00000455577.2_Intron|PAK6_ENST00000542403.2_5'Flank|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	153										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		GGGTCTCCGCGAGGCGGCCAC	0.711																																																	0													5	6	6					15																	40544515		1989	3955	5944	SO:0001583	missense	644809				CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.457C>A	15.37:g.40544515G>T	ENSP00000315794:p.Arg153Ser			Missense_Mutation	SNP	NULL	p.R153S	ENST00000319503.3	37	c.457	CCDS32197.1	15	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780706	0.31502	.	.	ENSG00000176753	ENST00000319503	T	0.30714	1.52	3.58	0.514	0.17007	.	.	.	.	.	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	P	0.41748	0.761	B	0.35240	0.198	T	0.14008	-1.0488	9	0.87932	D	0	.	3.2861	0.06932	0.258:0.2252:0.5168:0.0	.	153	Q8N910	CO056_HUMAN	S	153	ENSP00000315794:R153S	ENSP00000315794:R153S	R	-	1	0	C15orf56	38331807	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.023000	0.13533	0.301000	0.22738	0.462000	0.41574	CGC	C15orf56	-	NULL		0.711	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf56	HGNC	protein_coding	OTTHUMT00000418370.2	G	NM_001039905		40544515	-1	no_errors	ENST00000319503	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40544515	G	T	40544515	3	4	117	1	0	0	0	0	1	0	0	0	1808	1058	37	3	32	3	C15orf56	15	40544515	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	17530049	40544515	61986877	938	18406										
PLCB2	5330	genome.wustl.edu	37	chr15	40591117	40591117	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcccgctgtttctggttgatGaatttggtcaggtgctcctt	11	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40591117G>A	ENST00000260402.3	-	9	981	c.732C>T	c.(730-732)ttC>ttT	p.F244F	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.F244F|PLCB2_ENST00000456256.2_Silent_p.F244F	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	244					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGGTTGATGAATTTGGTCA	0.572																																																	0													97	102	100					15																	40591117		2030	4177	6207	SO:0001819	synonymous_variant	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.732C>T	15.37:g.40591117G>A			A8K6J2|B9EGH5	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F244	ENST00000260402.3	37	c.732	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.572	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	G			40591117	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40591117	G	A	40591117	2	1	117	1	0	0	0	0	0	0	0	1	12052	1281	45	1		1	PLCB2	15	40591117	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	46602	40591117	61940275	939	18407										
PLCB2	5330	genome.wustl.edu	37	chr15	40591367	40591367	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctatttctggccgaggacaGaggctcatgaggaaactctt	11	9	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40591367G>C	ENST00000260402.3	-	8	894	c.645C>G	c.(643-645)ctC>ctG	p.L215L	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.L215L|PLCB2_ENST00000456256.2_Silent_p.L215L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	215					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCGAGGACAGAGGCTCATGA	0.507																																																	0													121	127	125					15																	40591367		1974	4141	6115	SO:0001819	synonymous_variant	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.645C>G	15.37:g.40591367G>C			A8K6J2|B9EGH5	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L215	ENST00000260402.3	37	c.645	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta		0.507	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	G			40591367	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	silent	SNP	0.993	C	C	40591367	G	C	40591367	2	2	117	1	0	0	0	0	0	0	0	1	12052	929	33	1		1	PLCB2	15	40591367	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	250	40591367	61940025	940	18408										
RPUSD2	27079	genome.wustl.edu	37	chr15	40865974	40865974	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcttgggccatcccattctCaacgaccccatctacaactc	4	17	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40865974C>G	ENST00000315616.7	+	3	1190	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	RPUSD2_ENST00000559271.1_Silent_p.L323L	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	384					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ATCCCATTCTCAACGACCCCA	0.582																																																	0													73	58	63					15																	40865974		2203	4300	6503	SO:0001819	synonymous_variant	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1152C>G	15.37:g.40865974C>G			B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.L384	ENST00000315616.7	37	c.1152	CCDS10061.1	15																																																																																			RPUSD2	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D		0.582	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	C	NM_152260		40865974	1	no_errors	ENST00000315616	ensembl	human	known	70_37	silent	SNP	1.000	G	G	40865974	C	G	40865974	2	3	117	1	0	0	0	0	0	0	0	1	13697	813	29	1		1	RPUSD2	15	40865974	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	274607	40865974	61665418	941	18409										
INO80	54617	genome.wustl.edu	37	chr15	41346164	41346164	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttccacatctttcttgattCtcctcagcataaatggcttc	4	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:41346164C>G	ENST00000361937.3	-	19	2661	c.2237G>C	c.(2236-2238)aGa>aCa	p.R746T	INO80_ENST00000401393.3_Missense_Mutation_p.R746T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	746	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTCTTGATTCTCCTCAGCAT	0.388																																																	0													124	112	116					15																	41346164		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2237G>C	15.37:g.41346164C>G	ENSP00000355205:p.Arg746Thr		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R746T	ENST00000361937.3	37	c.2237	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019266	0.93462	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.99961	-9.38;-9.38	5.0	5.0	0.66597	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.98487	4.245	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.97314	0.9939	10	0.87932	D	0	.	18.8388	0.92174	0.0:1.0:0.0:0.0	.	746	Q9ULG1	INO80_HUMAN	T	746	ENSP00000355205:R746T;ENSP00000384686:R746T	ENSP00000355205:R746T	R	-	2	0	INO80	39133456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.535000	0.82014	2.741000	0.93983	0.557000	0.71058	AGA	INO80	-	pfam_SNF2_N		0.388	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41346164	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41346164	C	G	41346164	3	3	117	1	0	0	0	0	1	0	0	0	7766	913	32	1	2505	1	INO80	15	41346164	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	480190	41346164	61185228	942	18410										
SPTBN5	51332	genome.wustl.edu	37	chr15	42171994	42171994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcccaggatatctctgcctCagttgctcagcagagctgct	9	13	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:42171994C>T	ENST00000320955.6	-	15	3107	c.2880G>A	c.(2878-2880)ctG>ctA	p.L960L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	960					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTCTGCCTCAGTTGCTCAG	0.587																																																	0													89	88	88					15																	42171994		2062	4202	6264	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2880G>A	15.37:g.42171994C>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L960	ENST00000320955.6	37	c.2880		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.587	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42171994	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.998	T	T	42171994	C	T	42171994	2	4	117	1	0	0	0	0	0	0	0	1	15152	813	29	1		1	SPTBN5	15	42171994	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	825830	42171994	60359398	943	18411										
ZFP106	64397	genome.wustl.edu	37	chr15	42729566	42729566	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcatcatctcctggctctGaagatatttctggaaaacaa	6	10	5	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:42729566G>C	ENST00000263805.4	-	10	4867	c.4541C>G	c.(4540-4542)tCa>tGa	p.S1514*	ZNF106_ENST00000565380.1_Nonsense_Mutation_p.S742*|ZNF106_ENST00000565611.1_Nonsense_Mutation_p.S699*	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1514					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCTGGCTCTGAAGATATTTC	0.393																																																	0													108	103	105					15																	42729566		2203	4299	6502	SO:0001587	stop_gained	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4541C>G	15.37:g.42729566G>C	ENSP00000263805:p.Ser1514*		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1514*	ENST00000263805.4	37	c.4541	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.187615	0.99094	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	4.95	4.95	0.65309	.	0.133682	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.3797	18.3733	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	1514;742	.	ENSP00000263805:S1514X	S	-	2	0	ZFP106	40516858	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.628000	0.90979	2.590000	0.87494	0.462000	0.41574	TCA	ZFP106	-	NULL		0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	G	NM_022473		42729566	-1	no_errors	ENST00000263805	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	42729566	G	C	42729566	4	2	117	1	0	0	0	0	0	1	0	0	17667	1294	45	1	1150	1	ZFP106	15	42729566	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	557572	42729566	59801826	944	18412										
UBR1	197131	genome.wustl.edu	37	chr15	43329982	43329982	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgctgtacctggctaataaGagacagtccatttcttcgcc	8	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:43329982G>C	ENST00000290650.4	-	17	2089	c.2011C>G	c.(2011-2013)Ctt>Gtt	p.L671V	UBR1_ENST00000382177.2_Missense_Mutation_p.L671V	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	671					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGGCTAATAAGAGACAGTCCA	0.378																																																	0													83	68	73					15																	43329982		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2011C>G	15.37:g.43329982G>C	ENSP00000290650:p.Leu671Val		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L671V	ENST00000290650.4	37	c.2011	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244336	0.39697	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	D;D	0.84442	-1.85;-1.85	4.92	4.0	0.46444	.	0.088156	0.47093	D	0.000253	T	0.80149	0.4570	M	0.73598	2.24	0.53688	D	0.999972	P;P	0.49253	0.89;0.921	B;B	0.39419	0.299;0.284	T	0.75825	-0.3181	10	0.18710	T	0.47	-2.4993	7.6911	0.28569	0.1315:0.0:0.7215:0.1469	.	671;671	B4DYL2;Q8IWV7	.;UBR1_HUMAN	V	671	ENSP00000290650:L671V;ENSP00000371612:L671V	ENSP00000290650:L671V	L	-	1	0	UBR1	41117274	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	2.165000	0.42396	2.712000	0.92718	0.563000	0.77884	CTT	UBR1	-	NULL		0.378	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	G	NM_174916		43329982	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	missense	SNP	0.998	C	C	43329982	G	C	43329982	3	2	117	1	0	0	0	0	1	0	0	0	16932	942	33	1	3362	1	UBR1	15	43329982	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	600416	43329982	59201410	945	18413										
ZSCAN29	146050	genome.wustl.edu	37	chr15	43662089	43662089	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagagttagtgccattctctCttagagctgatttggccatc	9	10	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:43662089C>G	ENST00000396976.2	-	1	157	c.23G>C	c.(22-24)aGa>aCa	p.R8T	ZSCAN29_ENST00000563508.1_5'Flank|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R7T|TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R8T|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R7T	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	8					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCATTCTCTCTTAGAGCTGA	0.517																																																	0													79	76	77					15																	43662089		2201	4299	6500	SO:0001583	missense	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.23G>C	15.37:g.43662089C>G	ENSP00000380174:p.Arg8Thr		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R8T	ENST00000396976.2	37	c.23	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743266	0.30865	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.08282	3.11;3.13	4.79	3.86	0.44501	.	0.000000	0.48286	D	0.000194	T	0.13670	0.0331	L	0.58428	1.81	0.80722	D	1	B;P;P;B	0.48911	0.403;0.79;0.917;0.421	B;B;P;B	0.52217	0.12;0.379;0.693;0.056	T	0.00294	-1.1840	10	0.40728	T	0.16	-15.1912	6.5283	0.22312	0.0:0.8108:0.0:0.1892	.	8;7;8;8	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	T	8	ENSP00000380174:R8T;ENSP00000380170:R8T	ENSP00000380170:R8T	R	-	2	0	ZSCAN29	41449381	0.991000	0.36638	1.000000	0.80357	0.786000	0.44442	0.266000	0.18534	2.632000	0.89209	0.655000	0.94253	AGA	ZSCAN29	-	NULL		0.517	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	C	NM_152455		43662089	-1	no_errors	ENST00000396976	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43662089	C	G	43662089	3	3	117	1	0	0	0	0	1	0	0	0	18266	913	32	1	2555	1	ZSCAN29	15	43662089	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	332107	43662089	58869303	946	18414										
MFAP1	4236	genome.wustl.edu	37	chr15	44105255	44105255	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccatgcctcatattcctcctCatcattttcatcatcagtat	2	14	6	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44105255C>T	ENST00000267812.3	-	6	1049	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	273					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TATTCCTCCTCATCATTTTCA	0.433																																																	0													346	328	334					15																	44105255		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.817G>A	15.37:g.44105255C>T	ENSP00000267812:p.Glu273Lys		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E273K	ENST00000267812.3	37	c.817	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.449728	0.96205	.	.	ENSG00000140259	ENST00000267812	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	M	0.89785	3.06	0.80722	D	1	D	0.60160	0.987	D	0.65573	0.936	D	0.86859	0.2028	9	0.56958	D	0.05	-22.3942	18.4248	0.90605	0.0:1.0:0.0:0.0	.	273	P55081	MFAP1_HUMAN	K	273	.	ENSP00000267812:E273K	E	-	1	0	MFAP1	41892547	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.278000	0.78587	2.746000	0.94184	0.655000	0.94253	GAG	MFAP1	-	pfam_MFAP1_C		0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44105255	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44105255	C	T	44105255	3	4	117	1	0	0	0	0	1	0	0	0	9536	835	29	1	518	1	MFAP1	15	44105255	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	443166	44105255	58426137	947	18415										
SPG11	80208	genome.wustl.edu	37	chr15	44855359	44855359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttagacagcaacctgtctgaGggtccttcagaagcacattt	9	10	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44855359G>A	ENST00000261866.7	-	40	7308	c.7292C>T	c.(7291-7293)cCt>cTt	p.P2431L	SPG11_ENST00000535302.2_Missense_Mutation_p.P2318L|SPG11_ENST00000427534.2_3'UTR	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2431					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGTCTGAGGGTCCTTCAG	0.378																																																	0													113	104	107					15																	44855359		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7292C>T	15.37:g.44855359G>A	ENSP00000261866:p.Pro2431Leu		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.P2431L	ENST00000261866.7	37	c.7292	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763235	0.89932	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.79454	-1.27;-0.99	5.95	5.95	0.96441	.	0.269276	0.39083	N	0.001469	D	0.86851	0.6032	M	0.65975	2.015	0.80722	D	1	D;D;D	0.67145	0.996;0.962;0.962	P;P;P	0.62089	0.898;0.528;0.528	D	0.86851	0.2023	10	0.72032	D	0.01	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	2318;2431;2431	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	L	2431;2318	ENSP00000261866:P2431L;ENSP00000445278:P2318L	ENSP00000261866:P2431L	P	-	2	0	SPG11	42642651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.206000	0.89745	2.821000	0.97095	0.650000	0.86243	CCT	SPG11	-	NULL		0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44855359	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44855359	G	A	44855359	3	1	117	1	0	0	0	0	1	0	0	0	15071	1000	35	4	43	4	SPG11	15	44855359	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	750104	44855359	57676033	948	18416										
SPG11	80208	genome.wustl.edu	37	chr15	44881468	44881468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accatcagagaagagatgctCtctttcaacaaagagctgta	8	9	3	3	rs368276916		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44881468C>T	ENST00000261866.7	-	28	4904	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K	SPG11_ENST00000558319.1_Missense_Mutation_p.E1630K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1630K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1630K|SPG11_ENST00000558253.1_5'UTR	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1630					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGAGATGCTCTCTTTCAACA	0.403																																																	0													78	76	77					15																	44881468		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4888G>A	15.37:g.44881468C>T	ENSP00000261866:p.Glu1630Lys		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.E1630K	ENST00000261866.7	37	c.4888	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853488	0.51270	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78364	-1.17;-0.91;-0.91	5.53	3.59	0.41128	.	0.253954	0.38605	N	0.001632	T	0.76300	0.3968	L	0.56769	1.78	0.80722	D	1	P;P;B	0.43826	0.575;0.818;0.015	B;B;B	0.43082	0.318;0.407;0.013	T	0.76828	-0.2815	10	0.59425	D	0.04	.	14.0887	0.64975	0.0:0.7154:0.2846:0.0	.	1630;1630;1630	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	K	1630	ENSP00000261866:E1630K;ENSP00000445278:E1630K;ENSP00000396110:E1630K	ENSP00000261866:E1630K	E	-	1	0	SPG11	42668760	0.744000	0.28250	0.648000	0.29521	0.960000	0.62799	1.411000	0.34702	0.647000	0.30713	0.655000	0.94253	GAG	SPG11	-	NULL		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	C			44881468	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	0.934	T	T	44881468	C	T	44881468	3	4	117	1	0	0	0	0	1	0	0	0	15071	922	32	1	2495	1	SPG11	15	44881468	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	26109	44881468	57649924	949	18417										
SPG11	80208	genome.wustl.edu	37	chr15	44941199	44941199	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaccaaacaaaatcagagaGagtccattctctataggaaa	6	8	2	2	rs138430209		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44941199G>C	ENST00000261866.7	-	7	1483	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	SPG11_ENST00000558319.1_Silent_p.L489L|SPG11_ENST00000535302.2_Silent_p.L489L|SPG11_ENST00000559193.1_Silent_p.L489L|SPG11_ENST00000427534.2_Silent_p.L489L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	489					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATCAGAGAGAGTCCATTCT	0.323																																																	0													66	65	65					15																	44941199		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1467C>G	15.37:g.44941199G>C			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.L489	ENST00000261866.7	37	c.1467	CCDS10112.1	15																																																																																			SPG11	-	NULL		0.323	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44941199	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	silent	SNP	0.508	C	C	44941199	G	C	44941199	2	2	117	1	0	0	0	0	0	0	0	1	15071	929	33	1		1	SPG11	15	44941199	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	59731	44941199	57590193	950	18418										
DUOX1	53905	genome.wustl.edu	37	chr15	45433184	45433184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggagagccaccgggaccctgGacctctgttcagcaccatcg	12	15	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:45433184G>A	ENST00000321429.4	+	14	1888	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	DUOX1_ENST00000389037.3_Missense_Mutation_p.G494E|DUOX1_ENST00000561166.1_Missense_Mutation_p.G140E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	494	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGGGACCCTGGACCTCTGTTC	0.592																																																	0													107	103	105					15																	45433184		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1481G>A	15.37:g.45433184G>A	ENSP00000317997:p.Gly494Glu		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.W436*	ENST00000321429.4	37	c.1308	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774239	0.90108	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.84800	-1.9;-1.9	4.46	4.46	0.54185	.	0.211084	0.49916	D	0.000133	D	0.94291	0.8166	H	0.95539	3.685	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.95699	0.8747	10	0.87932	D	0	-16.884	14.9827	0.71321	0.0:0.0:1.0:0.0	.	494	Q9NRD9	DUOX1_HUMAN	E	494	ENSP00000317997:G494E;ENSP00000373689:G494E	ENSP00000317997:G494E	G	+	2	0	DUOX1	43220476	1.000000	0.71417	0.826000	0.32828	0.543000	0.35085	9.407000	0.97325	2.474000	0.83562	0.650000	0.86243	GGA	DUOX1	-	pfscan_Haem_peroxidase_animal		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	G	NM_017434		45433184	1	no_errors	ENST00000561220	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	45433184	G	A	45433184	3	1	117	1	0	0	0	0	1	0	0	0	4810	1174	41	1	1527	1	DUOX1	15	45433184	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	491985	45433184	57098208	951	18419										
SEMA6D	80031	genome.wustl.edu	37	chr15	48052058	48052058	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtttcccagttgagggcagtCagctttcctgaagatgatga	12	8	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:48052058C>T	ENST00000316364.5	+	2	502	c.63C>T	c.(61-63)gtC>gtT	p.V21V	SEMA6D_ENST00000558014.1_Silent_p.V21V|SEMA6D_ENST00000358066.4_Silent_p.V21V|SEMA6D_ENST00000355997.3_Silent_p.V21V|SEMA6D_ENST00000389433.2_Silent_p.V21V|SEMA6D_ENST00000354744.4_Silent_p.V21V|SEMA6D_ENST00000537942.1_Silent_p.V21V|SEMA6D_ENST00000389428.3_Silent_p.V21V|SEMA6D_ENST00000389425.3_Silent_p.V21V|SEMA6D_ENST00000536845.2_Silent_p.V21V|SEMA6D_ENST00000389432.2_Silent_p.V21V|SEMA6D_ENST00000558816.1_Silent_p.V21V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	21					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGAGGGCAGTCAGCTTTCCTG	0.483																																																	0													188	145	160					15																	48052058		2198	4297	6495	SO:0001819	synonymous_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.63C>T	15.37:g.48052058C>T			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V21	ENST00000316364.5	37	c.63	CCDS32225.1	15																																																																																			SEMA6D	-	NULL		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	C	NM_024966		48052058	1	no_errors	ENST00000316364	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48052058	C	T	48052058	2	4	117	1	0	0	0	0	0	0	0	1	14072	813	29	1		1	SEMA6D	15	48052058	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2618874	48052058	54479334	952	18420										
USP8	9101	genome.wustl.edu	37	chr15	50751336	50751336	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctctttggagaatgttttgGattccaaagacaaaacccaa	8	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:50751336G>C	ENST00000396444.3	+	5	813	c.475G>C	c.(475-477)Gat>Cat	p.D159H	USP8_ENST00000425032.3_Missense_Mutation_p.D82H|USP8_ENST00000307179.4_Missense_Mutation_p.D159H|USP8_ENST00000433963.1_Missense_Mutation_p.D159H	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	159					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAATGTTTTGGATTCCAAAGA	0.403																																																	0													83	85	84					15																	50751336		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.475G>C	15.37:g.50751336G>C	ENSP00000379721:p.Asp159His		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.D159H	ENST00000396444.3	37	c.475	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354790	0.82243	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.23552	2.09;2.09;2.09;1.9	5.98	5.98	0.97165	.	0.508622	0.22545	N	0.058673	T	0.34861	0.0912	L	0.27053	0.805	0.47245	D	0.999363	D;D	0.64830	0.994;0.994	P;P	0.57371	0.819;0.819	T	0.01345	-1.1379	10	0.39692	T	0.17	-16.4689	18.2312	0.89936	0.0:0.0:1.0:0.0	.	82;159	B4DKA8;P40818	.;UBP8_HUMAN	H	159;159;159;82	ENSP00000379721:D159H;ENSP00000405537:D159H;ENSP00000302239:D159H;ENSP00000412682:D82H	ENSP00000302239:D159H	D	+	1	0	USP8	48538628	1.000000	0.71417	0.985000	0.45067	0.938000	0.57974	6.287000	0.72671	2.835000	0.97688	0.650000	0.86243	GAT	USP8	-	NULL		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	G	NM_005154		50751336	1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	0.993	C	C	50751336	G	C	50751336	3	2	117	1	0	0	0	0	1	0	0	0	17120	1174	41	1	489	1	USP8	15	50751336	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2699278	50751336	51780056	953	18421										
DMXL2	23312	genome.wustl.edu	37	chr15	51768828	51768828	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atttggtgttgcgtgttcttCaatgctttctgtccttagtc	9	8	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:51768828C>T	ENST00000251076.5	-	27	7206	c.6919G>A	c.(6919-6921)Gaa>Aaa	p.E2307K	DMXL2_ENST00000543779.2_Missense_Mutation_p.E2308K|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1671K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2307						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCGTGTTCTTCAATGCTTTCT	0.343																																																	0													167	159	162					15																	51768828		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6919G>A	15.37:g.51768828C>T	ENSP00000251076:p.Glu2307Lys		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2308K	ENST00000251076.5	37	c.6922	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705033	0.88924	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26373	1.87;1.87;1.74	5.34	5.34	0.76211	.	0.046754	0.85682	D	0.000000	T	0.34164	0.0888	L	0.59436	1.845	0.80722	D	1	P;P;P;D	0.52996	0.929;0.877;0.682;0.957	B;B;B;P	0.44811	0.433;0.339;0.129;0.461	T	0.21211	-1.0252	10	0.72032	D	0.01	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	2308;1671;2307;2308	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	2307;2308;1671	ENSP00000251076:E2307K;ENSP00000441858:E2308K;ENSP00000400855:E1671K	ENSP00000251076:E2307K	E	-	1	0	DMXL2	49556120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.502000	0.84385	0.655000	0.94253	GAA	DMXL2	-	NULL		0.343	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51768828	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51768828	C	T	51768828	3	4	117	1	0	0	0	0	1	0	0	0	4605	835	29	1	2259	1	DMXL2	15	51768828	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1017492	51768828	50762564	954	18422										
WDR72	256764	genome.wustl.edu	37	chr15	53994468	53994468	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agacaacatccaactttggtCtaatttcgaagagagaccat	7	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:53994468C>A	ENST00000396328.1	-	12	1671	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y	WDR72_ENST00000557913.1_Missense_Mutation_p.D475Y|WDR72_ENST00000559418.1_Missense_Mutation_p.D488Y|WDR72_ENST00000360509.5_Missense_Mutation_p.D478Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	478										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAACTTTGGTCTAATTTCGAA	0.403																																																	0													125	121	122					15																	53994468		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1432G>T	15.37:g.53994468C>A	ENSP00000379619:p.Asp478Tyr		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D478Y	ENST00000396328.1	37	c.1432	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327045	0.81690	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01933	4.55;4.55	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	M	0.88377	2.95	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.00394	-1.1767	10	0.87932	D	0	.	18.4665	0.90757	0.0:1.0:0.0:0.0	.	478	Q3MJ13	WDR72_HUMAN	Y	478	ENSP00000379619:D478Y;ENSP00000353699:D478Y	ENSP00000353699:D478Y	D	-	1	0	WDR72	51781760	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.887000	0.75616	2.601000	0.87937	0.655000	0.94253	GAC	WDR72	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	C	NM_182758		53994468	-1	no_errors	ENST00000360509	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53994468	C	A	53994468	3	1	117	1	0	0	0	0	1	0	0	0	17353	913	32	3	1912	3	WDR72	15	53994468	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2225640	53994468	48536924	955	18423										
RSL24D1	51187	genome.wustl.edu	37	chr15	55489063	55489063	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggatagatgggccccgaaCagaaataacacttttcgata	9	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:55489063C>G	ENST00000260443.4	-	1	202	c.26G>C	c.(25-27)tGt>tCt	p.C9S	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	9					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						GGGCCCCGAACAGAAATAACA	0.542											OREG0023135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118	91	100					15																	55489063		2193	4292	6485	SO:0001583	missense	51187			AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"chromosome 15 open reading frame 15"	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.26G>C	15.37:g.55489063C>G	ENSP00000260443:p.Cys9Ser	1008	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	pfam_Ribosomal_L24e_rel,smart_TRASH	p.C9S	ENST00000260443.4	37	c.26	CCDS10152.1	15	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001095	0.54254	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.47	3.53	0.40419	Ribosomal protein L24e, conserved site (1);TRASH (1);Ribosomal protein L24e domain (1);	0.091941	0.85682	D	0.000000	T	0.61022	0.2314	L	0.58428	1.81	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	T	0.64110	-0.6484	9	0.87932	D	0	-9.8255	12.4968	0.55933	0.1686:0.8314:0.0:0.0	.	9	Q9UHA3	RLP24_HUMAN	S	9	.	ENSP00000260443:C9S	C	-	2	0	RSL24D1	53276355	1.000000	0.71417	0.865000	0.33974	0.977000	0.68977	6.823000	0.75282	1.073000	0.40885	0.563000	0.77884	TGT	RSL24D1	-	pfam_Ribosomal_L24e_rel,smart_TRASH		0.542	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSL24D1	HGNC	protein_coding	OTTHUMT00000254916.1	C	NM_016304		55489063	-1	no_errors	ENST00000260443	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55489063	C	G	55489063	3	3	117	1	0	0	0	0	1	0	0	0	13731	478	17	4	489	4	RSL24D1	15	55489063	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1494595	55489063	47042329	956	18424										
CCPG1	9236	genome.wustl.edu	37	chr15	55664079	55664079	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctactgaactgacgtttactCaactccttagaaggttcagt	7	10	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:55664079C>G	ENST00000310958.6	-	6	916	c.618G>C	c.(616-618)ttG>ttC	p.L206F	CCPG1_ENST00000425574.3_Missense_Mutation_p.L206F|MIR628_ENST00000385229.1_RNA|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.L206F|CCPG1_ENST00000442196.3_Missense_Mutation_p.L206F	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	206	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GACGTTTACTCAACTCCTTAG	0.438																																																	0													120	108	111					15																	55664079		1882	4107	5989	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.618G>C	15.37:g.55664079C>G	ENSP00000311656:p.Leu206Phe		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.L206F	ENST00000310958.6	37	c.618	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359008	0.24598	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.30981	3.84;3.84;1.51	5.52	1.43	0.22495	.	1.078510	0.07282	N	0.870860	T	0.32194	0.0821	L	0.51422	1.61	0.09310	N	1	P;D;P;P	0.58620	0.911;0.983;0.911;0.911	B;P;B;B	0.53861	0.382;0.736;0.382;0.382	T	0.17745	-1.0359	10	0.10111	T	0.7	.	1.7312	0.02932	0.1318:0.4385:0.1284:0.3014	.	206;206;206;62	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	F	206	ENSP00000311656:L206F;ENSP00000403400:L206F;ENSP00000415128:L206F	ENSP00000311656:L206F	L	-	3	2	DYX1C1	53451371	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	0.076000	0.14712	0.015000	0.14971	0.655000	0.94253	TTG	CCPG1	-	NULL		0.438	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55664079	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.000	G	G	55664079	C	G	55664079	3	3	117	1	0	0	0	0	1	0	0	0	2943	825	29	1	1667	1	CCPG1	15	55664079	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	175016	55664079	46867313	957	18425										
VPS13C	54832	genome.wustl.edu	37	chr15	62253889	62253889	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgaactgattatgaactctGattaacccaagatctaccac	5	11	2	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:62253889G>C	ENST00000261517.5	-	35	3880	c.3807C>G	c.(3805-3807)atC>atG	p.I1269M	VPS13C_ENST00000395896.4_Missense_Mutation_p.I1269M|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1226M|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1226M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATGAACTCTGATTAACCCAA	0.378																																																	0													109	107	108					15																	62253889		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3807C>G	15.37:g.62253889G>C	ENSP00000261517:p.Ile1269Met			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.I1269M	ENST00000261517.5	37	c.3807	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099132	0.37048	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.15603	2.41;2.41;2.41	5.76	3.87	0.44632	.	0.068138	0.56097	D	0.000036	T	0.26231	0.0640	M	0.85710	2.77	0.50171	D	0.999856	B;B;B;B	0.22414	0.069;0.069;0.019;0.041	B;B;B;B	0.29942	0.109;0.089;0.059;0.051	T	0.05053	-1.0909	10	0.72032	D	0.01	.	8.3478	0.32284	0.3234:0.0:0.6766:0.0	.	1226;1269;1226;1269	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	1226;1269;1269;1269	ENSP00000249837:I1226M;ENSP00000261517:I1269M;ENSP00000379233:I1269M	ENSP00000249837:I1226M	I	-	3	3	VPS13C	60041181	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	0.788000	0.26872	0.753000	0.32945	0.563000	0.77884	ATC	VPS13C	-	NULL		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62253889	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62253889	G	C	62253889	3	2	117	1	0	0	0	0	1	0	0	0	17222	1280	45	1	7686	1	VPS13C	15	62253889	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6589810	62253889	40277503	958	18426										
IGDCC3	9543	genome.wustl.edu	37	chr15	65621808	65621808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttcatatccacacgtttctCgtctcggcccagctggcccc	7	18	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:65621808C>T	ENST00000327987.4	-	13	2376	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	709					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACACGTTTCTCGTCTCGGCCC	0.657																																																	0													54	64	61					15																	65621808		2199	4294	6493	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2125G>A	15.37:g.65621808C>T	ENSP00000332773:p.Glu709Lys		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E709K	ENST00000327987.4	37	c.2125	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	9.672	1.146942	0.21288	.	.	ENSG00000174498	ENST00000327987	T	0.65364	-0.15	5.73	1.58	0.23477	.	0.573084	0.18003	N	0.154856	T	0.33147	0.0853	N	0.08118	0	0.23204	N	0.998128	B	0.11235	0.004	B	0.08055	0.003	T	0.18335	-1.0340	10	0.11182	T	0.66	-5.0986	6.0865	0.19970	0.0:0.6413:0.1331:0.2256	.	709	Q8IVU1	IGDC3_HUMAN	K	709	ENSP00000332773:E709K	ENSP00000332773:E709K	E	-	1	0	IGDCC3	63408861	0.104000	0.21937	0.009000	0.14445	0.002000	0.02628	0.490000	0.22403	0.038000	0.15604	-0.126000	0.14955	GAG	IGDCC3	-	NULL		0.657	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	C	NM_004884		65621808	-1	no_errors	ENST00000327987	ensembl	human	known	70_37	missense	SNP	0.789	T	T	65621808	C	T	65621808	3	4	117	1	0	0	0	0	1	0	0	0	7588	893	31	1	327	1	IGDCC3	15	65621808	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3367919	65621808	36909584	959	18427										
IQCH	64799	genome.wustl.edu	37	chr15	67692531	67692531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaaatggactctgagttccGaggaaatgggactgcatttt	11	6	1	1	rs146418351		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:67692531G>A	ENST00000335894.4	+	14	2051	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	IQCH_ENST00000358767.3_Missense_Mutation_p.R398Q|IQCH_ENST00000546225.1_Missense_Mutation_p.R319Q|IQCH_ENST00000360277.4_Missense_Mutation_p.R323Q	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	662										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTGAGTTCCGAGGAAATGGG	0.453																																																	0													132	122	126					15																	67692531		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1985G>A	15.37:g.67692531G>A	ENSP00000336861:p.Arg662Gln		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R662Q	ENST00000335894.4	37	c.1985	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450143	0.26074	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.41065	1.01;1.02;1.01;1.01	5.24	2.11	0.27256	.	0.314324	0.33005	N	0.005397	T	0.23572	0.0570	N	0.22421	0.69	0.23685	N	0.997111	B;B;B	0.21520	0.033;0.057;0.01	B;B;B	0.13407	0.009;0.009;0.002	T	0.16335	-1.0406	10	0.18710	T	0.47	-1.0859	8.0288	0.30453	0.1538:0.1276:0.7186:0.0	.	319;323;662	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	Q	398;319;662;323	ENSP00000351617:R398Q;ENSP00000444118:R319Q;ENSP00000336861:R662Q;ENSP00000353419:R323Q	ENSP00000336861:R662Q	R	+	2	0	IQCH	65479585	1.000000	0.71417	0.982000	0.44146	0.473000	0.32948	4.939000	0.63526	0.507000	0.28148	-1.058000	0.02302	CGA	IQCH	-	NULL		0.453	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	G	NM_022784		67692531	1	no_errors	ENST00000335894	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67692531	G	A	67692531	3	1	117	1	0	0	0	0	1	0	0	0	7831	1058	37	1	2167	1	IQCH	15	67692531	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2070723	67692531	34838861	960	18428										
FEM1B	10116	genome.wustl.edu	37	chr15	68582020	68582020	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagttgttaaacttctagtCagccatggagccaacgtgaa	10	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:68582020C>A	ENST00000306917.4	+	2	939	c.324C>A	c.(322-324)gtC>gtA	p.V108V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	108					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AACTTCTAGTCAGCCATGGAG	0.458																																																	0													87	74	78					15																	68582020		2200	4298	6498	SO:0001819	synonymous_variant	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.324C>A	15.37:g.68582020C>A			O43146	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V108	ENST00000306917.4	37	c.324	CCDS10228.1	15																																																																																			FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68582020	1	no_errors	ENST00000306917	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68582020	C	A	68582020	2	1	117	1	0	0	0	0	0	0	0	1	5828	813	29	3		3	FEM1B	15	68582020	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	889489	68582020	33949372	961	18429										
SPESP1	246777	genome.wustl.edu	37	chr15	69238687	69238687	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgctctagcagcagcagcaGaacataaattaaaaacaatg	7	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:69238687G>A	ENST00000310673.3	+	2	968	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	272					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGCAGCAGAACATAAATT	0.383																																																	0													58	59	58					15																	69238687		2200	4298	6498	SO:0001583	missense	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.814G>A	15.37:g.69238687G>A	ENSP00000312284:p.Glu272Lys		Q8NG22|Q8WVH8	Missense_Mutation	SNP	NULL	p.E272K	ENST00000310673.3	37	c.814	CCDS10230.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520179	0.85495	.	.	ENSG00000258484	ENST00000310673	T	0.26067	1.76	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000277	T	0.41305	0.1153	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.21518	-1.0243	10	0.87932	D	0	-10.4724	14.7703	0.69671	0.0:0.0:1.0:0.0	.	272	Q6UW49	SPESP_HUMAN	K	272	ENSP00000312284:E272K	ENSP00000312284:E272K	E	+	1	0	SPESP1	67025741	0.979000	0.34478	0.677000	0.29947	0.098000	0.18820	2.352000	0.44080	2.627000	0.88993	0.655000	0.94253	GAA	SPESP1	-	NULL		0.383	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPESP1	HGNC	protein_coding	OTTHUMT00000257125.1	G	NM_145658		69238687	1	no_errors	ENST00000310673	ensembl	human	known	70_37	missense	SNP	0.873	A	A	69238687	G	A	69238687	3	1	117	1	0	0	0	0	1	0	0	0	15070	943	33	1	820	1	SPESP1	15	69238687	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	656667	69238687	33292705	962	18430										
MYO9A	4649	genome.wustl.edu	37	chr15	72252262	72252262	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtttttctgtgaatgtttCttttcccagcttccctgaaa	6	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:72252262C>T	ENST00000356056.5	-	14	2634	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K	MYO9A_ENST00000424560.1_Missense_Mutation_p.R721K|MYO9A_ENST00000566885.1_Missense_Mutation_p.R316K|MYO9A_ENST00000444904.1_Missense_Mutation_p.R702K|MYO9A_ENST00000564571.1_Missense_Mutation_p.R721K|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	721	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGAATGTTTCTTTTCCCAGC	0.373																																																	0													61	58	59					15																	72252262		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2162G>A	15.37:g.72252262C>T	ENSP00000348349:p.Arg721Lys		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.R721K	ENST00000356056.5	37	c.2162	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469021	0.84533	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.84660	-1.88;-1.87;-1.87	5.49	5.49	0.81192	Myosin head, motor domain (1);	.	.	.	.	T	0.77519	0.4142	N	0.01482	-0.84	0.58432	D	0.999998	D;B;B;B	0.67145	0.996;0.036;0.082;0.213	D;B;B;B	0.63113	0.911;0.036;0.036;0.262	T	0.74842	-0.3527	9	0.02654	T	1	.	19.3733	0.94498	0.0:1.0:0.0:0.0	.	702;721;702;721	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	K	721;721;702;702;721	ENSP00000348349:R721K;ENSP00000399162:R721K;ENSP00000398250:R702K	ENSP00000261864:R702K	R	-	2	0	MYO9A	70039316	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.694000	0.68272	2.584000	0.87258	0.460000	0.39030	AGA	MYO9A	-	smart_Myosin_head_motor_dom		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72252262	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72252262	C	T	72252262	3	4	117	1	0	0	0	0	1	0	0	0	10107	913	32	1	5600	1	MYO9A	15	72252262	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3013575	72252262	30279130	963	18431										
CCDC33	80125	genome.wustl.edu	37	chr15	74623334	74623334	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctcacagaagaatgatcgaGagaaggagctgctccttctg	11	9	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:74623334G>C	ENST00000398814.3	+	14	1989	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	CCDC33_ENST00000268082.4_Missense_Mutation_p.E113Q|CCDC33_ENST00000558821.1_Missense_Mutation_p.E113Q|CCDC33_ENST00000321288.5_Missense_Mutation_p.E723Q	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	723										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAATGATCGAGAGAAGGAGCT	0.607																																																	0													19	22	21					15																	74623334		1992	4171	6163	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1558G>C	15.37:g.74623334G>C	ENSP00000381795:p.Glu520Gln		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E723Q	ENST00000398814.3	37	c.2167	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002575	0.74932	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.65549	1.29;0.15;-0.11;-0.16	4.95	3.97	0.46021	.	0.062488	0.64402	D	0.000010	T	0.78381	0.4274	M	0.81942	2.565	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.998;0.999;0.994;0.997	T	0.80054	-0.1543	10	0.48119	T	0.1	.	13.6706	0.62422	0.0:0.1563:0.8437:0.0	.	113;113;723;520	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	Q	723;520;113;113	ENSP00000325012:E723Q;ENSP00000381795:E520Q;ENSP00000325661:E113Q;ENSP00000268082:E113Q	ENSP00000268082:E113Q	E	+	1	0	CCDC33	72410387	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	5.119000	0.64679	2.292000	0.77174	0.551000	0.68910	GAG	CCDC33	-	NULL		0.607	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	G	NM_182791		74623334	1	no_errors	ENST00000321288	ensembl	human	known	70_37	missense	SNP	0.997	C	C	74623334	G	C	74623334	3	2	117	1	0	0	0	0	1	0	0	0	2811	943	33	1	1685	1	CCDC33	15	74623334	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2371072	74623334	27908058	964	18432										
SIN3A	25942	genome.wustl.edu	37	chr15	75693150	75693150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcgatagctggagcccaatCgtttacaagaagcataatct	8	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:75693150C>T	ENST00000394947.3	-	11	1972	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.R553Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.R553Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGAGCCCAATCGTTTACAAGA	0.478																																																	0													117	102	107					15																	75693150		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1658G>A	15.37:g.75693150C>T	ENSP00000378402:p.Arg553Gln			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.R553Q	ENST00000394947.3	37	c.1658	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.025835	0.97216	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.51817	0.69;0.69;0.69	5.91	5.91	0.95273	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.76838	2.35	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	T	0.65022	-0.6269	10	0.34782	T	0.22	-25.1661	19.2838	0.94063	0.0:1.0:0.0:0.0	.	553	Q96ST3	SIN3A_HUMAN	Q	553	ENSP00000378402:R553Q;ENSP00000378403:R553Q;ENSP00000353622:R553Q	ENSP00000353622:R553Q	R	-	2	0	SIN3A	73480203	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.817000	0.86213	2.805000	0.96524	0.460000	0.39030	CGA	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact		0.478	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	C	NM_015477		75693150	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75693150	C	T	75693150	3	4	117	1	0	0	0	0	1	0	0	0	14355	884	31	1	2207	1	SIN3A	15	75693150	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1069816	75693150	26838242	965	18433										
CSPG4	1464	genome.wustl.edu	37	chr15	75970197	75970197	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaagggctcggggggcatctCatgctcatacagaatattcc	11	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:75970197C>T	ENST00000308508.5	-	9	5073	c.4981G>A	c.(4981-4983)Gag>Aag	p.E1661K	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1661	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGGCATCTCATGCTCATAC	0.607																																																	0													43	45	44					15																	75970197		2197	4294	6491	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4981G>A	15.37:g.75970197C>T	ENSP00000312506:p.Glu1661Lys		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E1661K	ENST00000308508.5	37	c.4981	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078261	0.36662	.	.	ENSG00000173546	ENST00000308508	T	0.18657	2.2	4.87	1.65	0.23941	.	0.614325	0.15213	N	0.274388	T	0.13670	0.0331	L	0.46157	1.445	0.33436	D	0.581691	B	0.06786	0.001	B	0.06405	0.002	T	0.35847	-0.9772	10	0.06757	T	0.87	.	5.5649	0.17165	0.0:0.5203:0.296:0.1837	.	1661	Q6UVK1	CSPG4_HUMAN	K	1661	ENSP00000312506:E1661K	ENSP00000312506:E1661K	E	-	1	0	CSPG4	73757252	0.941000	0.31946	0.974000	0.42286	0.875000	0.50365	1.735000	0.38176	0.047000	0.15862	0.485000	0.47835	GAG	CSPG4	-	NULL		0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	C	NM_001897		75970197	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.996	T	T	75970197	C	T	75970197	3	4	117	1	0	0	0	0	1	0	0	0	3965	835	29	1	1995	1	CSPG4	15	75970197	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	277047	75970197	26561195	966	18434										
SH2D7	646892	genome.wustl.edu	37	chr15	78386532	78386532	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaccgagccactggctacatCttgtcctacaggtaagaggg	12	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:78386532C>T	ENST00000328828.5	+	2	255	c.255C>T	c.(253-255)atC>atT	p.I85I	SH2D7_ENST00000409568.2_5'UTR|SNORA63_ENST00000362763.1_RNA	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	85	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(2)|kidney(2)|lung(3)	7						CTGGCTACATCTTGTCCTACA	0.547																																																	0													39	44	42					15																	78386532		2005	4173	6178	SO:0001819	synonymous_variant	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.255C>T	15.37:g.78386532C>T				Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.I85	ENST00000328828.5	37	c.255	CCDS45315.1	15																																																																																			SH2D7	-	pfam_SH2,smart_SH2,pfscan_SH2		0.547	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	C	NM_001101404		78386532	1	no_errors	ENST00000328828	ensembl	human	novel	70_37	silent	SNP	0.989	T	T	78386532	C	T	78386532	2	4	117	1	0	0	0	0	0	0	0	1	14269	903	32	1		1	SH2D7	15	78386532	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2416335	78386532	24144860	967	18435										
FAM108C1	58489	genome.wustl.edu	37	chr15	80988091	80988091	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagcgcgagctggacgccgtCgaggtcttcttctcgcgcac	13	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:80988091C>G	ENST00000258884.4	+	1	448	c.321C>G	c.(319-321)gtC>gtG	p.V107V	RP11-28H5.2_ENST00000607458.1_lincRNA|ABHD17C_ENST00000560609.1_Intron|ABHD17C_ENST00000558464.1_Silent_p.V107V	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	107							hydrolase activity (GO:0016787)										TGGACGCCGTCGAGGTCTTCT	0.731																																																	0													3	3	3					15																	80988091		1872	3762	5634	SO:0001819	synonymous_variant	58489				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"Abhydrolase domain containing"	26925	protein-coding gene	gene with protein product			"family with sequence similarity 108, member C1"	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.321C>G	15.37:g.80988091C>G			Q1RMD6|Q9NPM1	Silent	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.V107	ENST00000258884.4	37	c.321	CCDS45323.1	15																																																																																			FAM108C1	-	NULL		0.731	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM108C1	HGNC	protein_coding	OTTHUMT00000417652.1	C	NM_021214		80988091	1	no_errors	ENST00000258884	ensembl	human	known	70_37	silent	SNP	0.998	G	G	80988091	C	G	80988091	2	3	117	1	0	0	0	0	0	0	0	1	5408	871	31	1		1	FAM108C1	15	80988091	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2601559	80988091	21543301	968	18436										
IL16	3603	genome.wustl.edu	37	chr15	81585185	81585185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaggagagcccacccctccCagagagccgggacagccacc	11	19	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:81585185C>T	ENST00000302987.4	+	11	1709	c.1709C>T	c.(1708-1710)cCa>cTa	p.P570L	IL16_ENST00000394660.2_Missense_Mutation_p.P570L			Q14005	IL16_HUMAN	interleukin 16	570					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCACCCCTCCCAGAGAGCCGG	0.592																																																	0													23	26	25					15																	81585185		1886	4102	5988	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1709C>T	15.37:g.81585185C>T	ENSP00000302935:p.Pro570Leu		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16	p.P570L	ENST00000302987.4	37	c.1709	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	C	4.693	0.128931	0.08981	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.11495	2.77;2.77	4.72	0.378	0.16204	.	0.614895	0.13615	N	0.374852	T	0.09069	0.0224	L	0.57536	1.79	0.09310	N	0.999996	B;B;B;B	0.30068	0.0;0.0;0.267;0.001	B;B;B;B	0.22601	0.001;0.001;0.04;0.003	T	0.26430	-1.0103	10	0.32370	T	0.25	.	5.162	0.15066	0.1411:0.5368:0.0:0.3221	.	64;107;570;570	Q6ZTT5;B7Z8M3;Q14005;Q14005-2	.;.;IL16_HUMAN;.	L	570;402;570;107	ENSP00000378155:P570L;ENSP00000302935:P570L	ENSP00000302935:P570L	P	+	2	0	IL16	79372240	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.168000	0.16622	0.209000	0.20645	0.561000	0.74099	CCA	IL16	-	NULL		0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	C	NM_172217		81585185	1	no_errors	ENST00000302987	ensembl	human	known	70_37	missense	SNP	0.000	T	T	81585185	C	T	81585185	3	4	117	1	0	0	0	0	1	0	0	0	7653	594	21	4	1751	4	IL16	15	81585185	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	597094	81585185	20946207	969	18437										
TMC3	342125	genome.wustl.edu	37	chr15	81665068	81665068	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcatcagcactaaagctgtCatccaagttgctgaatgatc	7	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:81665068C>T	ENST00000359440.5	-	2	235	c.100G>A	c.(100-102)Gac>Aac	p.D34N	TMC3_ENST00000558726.1_Missense_Mutation_p.D34N	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTAAAGCTGTCATCCAAGTTG	0.443																																																	0													103	90	94					15																	81665068		1903	4127	6030	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.100G>A	15.37:g.81665068C>T	ENSP00000352413:p.Asp34Asn			Missense_Mutation	SNP	pfam_TMC	p.D34N	ENST00000359440.5	37	c.100	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771547	0.69992	.	.	ENSG00000188869	ENST00000359440	T	0.64618	-0.11	4.96	4.03	0.46877	.	0.000000	0.64402	D	0.000006	T	0.69557	0.3124	L	0.44542	1.39	0.34971	D	0.753163	D;D	0.76494	0.971;0.999	P;D	0.64144	0.783;0.922	T	0.77923	-0.2406	10	0.51188	T	0.08	-17.2688	13.7983	0.63184	0.1551:0.8449:0.0:0.0	.	34;34	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	N	34	ENSP00000352413:D34N	ENSP00000352413:D34N	D	-	1	0	TMC3	79452123	1.000000	0.71417	0.795000	0.32087	0.990000	0.78478	3.537000	0.53590	1.177000	0.42855	0.467000	0.42956	GAC	TMC3	-	NULL		0.443	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	C	NM_181841		81665068	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	missense	SNP	0.989	T	T	81665068	C	T	81665068	3	4	117	1	0	0	0	0	1	0	0	0	16016	826	29	1	3286	1	TMC3	15	81665068	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	79883	81665068	20866324	970	18438										
CPEB1	64506	genome.wustl.edu	37	chr15	83226522	83226522	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttacatacaatcaaatctgaGagatgatctgatccagagct	7	8	3	5	rs372219971		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:83226522G>C	ENST00000562019.1	-	4	910	c.594C>G	c.(592-594)ctC>ctG	p.L198L	RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000563800.1_Silent_p.L225L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.L123L|CPEB1_ENST00000398591.2_Silent_p.L123L|CPEB1_ENST00000564522.1_Silent_p.L123L|CPEB1_ENST00000568128.1_Silent_p.L198L|CPEB1_ENST00000450751.2_Silent_p.L123L|CPEB1_ENST00000423133.2_Silent_p.L123L|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Silent_p.L201L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	198	Ser-rich.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCAAATCTGAGAGATGATCTG	0.522																																																	0													96	94	94					15																	83226522		1940	4177	6117	SO:0001819	synonymous_variant	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.594C>G	15.37:g.83226522G>C			B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Silent	SNP	pfscan_RRM_dom	p.L198	ENST00000562019.1	37	c.594		15																																																																																			CPEB1	-	NULL		0.522	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	G	NM_030594		83226522	-1	no_errors	ENST00000562019	ensembl	human	known	70_37	silent	SNP	1.000	C	C	83226522	G	C	83226522	2	2	117	1	0	0	0	0	0	0	0	1	3805	929	33	1		1	CPEB1	15	83226522	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1561454	83226522	19304870	971	18439										
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84581944	84581944	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcctcacattcacgcagactGagactgagctgcccgaggaa	10	13	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:84581944G>A	ENST00000286744.5	+	16	2025	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E601K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	601	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E601Q(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CACGCAGACTGAGACTGAGCT	0.627																																																	1	Substitution - Missense(1)	prostate(1)											86	73	77					15																	84581944		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1801G>A	15.37:g.84581944G>A	ENSP00000286744:p.Glu601Lys		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E601K	ENST00000286744.5	37	c.1801	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163482	0.38217	.	.	ENSG00000156218	ENST00000286744	T	0.52057	0.68	4.9	4.9	0.64082	.	0.543036	0.17856	N	0.159694	T	0.38772	0.1053	L	0.33710	1.025	0.43994	D	0.996693	P;P	0.43938	0.454;0.822	B;B	0.42245	0.381;0.371	T	0.20672	-1.0268	10	0.06365	T	0.9	.	18.1118	0.89538	0.0:0.0:1.0:0.0	.	601;601	P82987-2;P82987	.;ATL3_HUMAN	K	601	ENSP00000286744:E601K	ENSP00000286744:E601K	E	+	1	0	ADAMTSL3	82372948	1.000000	0.71417	0.047000	0.18901	0.848000	0.48234	9.036000	0.93758	2.246000	0.74042	0.563000	0.77884	GAG	ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.627	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84581944	1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.552	A	A	84581944	G	A	84581944	3	1	117	1	0	0	0	0	1	0	0	0	276	1291	45	1	1859	1	ADAMTSL3	15	84581944	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1355422	84581944	17949448	972	18440										
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84651086	84651086	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgcagatcctcagtgtccaGagagtctacattcagacaag	9	12	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:84651086G>C	ENST00000286744.5	+	21	2930	c.2706G>C	c.(2704-2706)caG>caC	p.Q902H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q902H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	902	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAGTGTCCAGAGAGTCTACA	0.423																																																	0													125	112	116					15																	84651086		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2706G>C	15.37:g.84651086G>C	ENSP00000286744:p.Gln902His		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.Q902H	ENST00000286744.5	37	c.2706	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509987	0.27036	.	.	ENSG00000156218	ENST00000286744	T	0.63913	-0.07	5.05	0.398	0.16319	Immunoglobulin-like (1);	0.182487	0.27012	N	0.021380	T	0.28466	0.0704	N	0.01482	-0.84	0.26567	N	0.973631	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.24261	-1.0165	10	0.38643	T	0.18	.	7.4121	0.27023	0.1896:0.5079:0.3025:0.0	.	902;902	P82987-2;P82987	.;ATL3_HUMAN	H	902	ENSP00000286744:Q902H	ENSP00000286744:Q902H	Q	+	3	2	ADAMTSL3	82442090	0.971000	0.33674	0.994000	0.49952	0.983000	0.72400	0.259000	0.18405	0.506000	0.28125	0.563000	0.77884	CAG	ADAMTSL3	-	pfscan_Ig-like		0.423	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84651086	1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.998	C	C	84651086	G	C	84651086	3	2	117	1	0	0	0	0	1	0	0	0	276	933	33	1	2784	1	ADAMTSL3	15	84651086	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	69142	84651086	17880306	973	18441										
ABHD2	11057	genome.wustl.edu	37	chr15	89694980	89694980	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatgggaagatgggaagggtGaggtcgccacatccttatgg	16	6	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:89694980G>A	ENST00000352732.5	+	4	787	c.267G>A	c.(265-267)gtG>gtA	p.V89V	ABHD2_ENST00000565973.1_Silent_p.V89V|ABHD2_ENST00000355100.3_Silent_p.V89V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	89					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGGGAAGGGTGAGGTCGCCAC	0.502																																					Colon(11;252 417 24570 33239 41878)												0													206	177	187					15																	89694980		2200	4299	6499	SO:0001819	synonymous_variant	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.267G>A	15.37:g.89694980G>A			Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.V89	ENST00000352732.5	37	c.267	CCDS10348.1	15																																																																																			ABHD2	-	pirsf_AB-Hydro_YheT		0.502	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	G			89694980	1	no_errors	ENST00000352732	ensembl	human	known	70_37	silent	SNP	0.998	A	A	89694980	G	A	89694980	2	1	117	1	0	0	0	0	0	0	0	1	82	1277	45	1		1	ABHD2	15	89694980	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5043894	89694980	12836412	974	18442										
C15orf42	90381	genome.wustl.edu	37	chr15	90167565	90167565	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggagaactggatcagaaaGagccccagatgtcacccagc	11	12	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:90167565G>A	ENST00000268138.7	+	20	4129	c.4024G>A	c.(4024-4026)Gag>Aag	p.E1342K	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.E1341K			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1342	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGATCAGAAAGAGCCCCAGAT	0.493																																																	0													99	104	102					15																	90167565		2200	4299	6499	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4024G>A	15.37:g.90167565G>A	ENSP00000268138:p.Glu1342Lys		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.E1342K	ENST00000268138.7	37	c.4024	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027863	0.19512	.	.	ENSG00000140534	ENST00000268138	T	0.09073	3.02	4.59	3.65	0.41850	.	0.598906	0.15160	N	0.277232	T	0.05318	0.0141	L	0.32530	0.975	0.09310	N	0.999997	P	0.46512	0.879	B	0.38500	0.275	T	0.13415	-1.0510	10	0.07482	T	0.82	-3.4706	8.5792	0.33617	0.088:0.1557:0.7563:0.0	.	1342	Q7Z2Z1	TICRR_HUMAN	K	1342	ENSP00000268138:E1342K	ENSP00000268138:E1342K	E	+	1	0	C15orf42	87968569	0.000000	0.05858	0.045000	0.18777	0.086000	0.17979	0.339000	0.19875	2.243000	0.73865	0.655000	0.94253	GAG	TICRR	-	NULL		0.493	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	G	NM_152259		90167565	1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.004	A	A	90167565	G	A	90167565	3	1	117	1	0	0	0	0	1	0	0	0	1800	943	33	1	4102	1	C15orf42	15	90167565	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	472585	90167565	12363827	975	18443										
KIF7	374654	genome.wustl.edu	37	chr15	90173618	90173618	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actgggacagcaacgaggctGaggcccgaagcacccgctgg	15	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:90173618G>A	ENST00000394412.3	-	16	3294	c.3218C>T	c.(3217-3219)tCa>tTa	p.S1073L	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1073					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAACGAGGCTGAGGCCCGAAG	0.572																																																	0													63	58	60					15																	90173618		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3218C>T	15.37:g.90173618G>A	ENSP00000377934:p.Ser1073Leu		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1073L	ENST00000394412.3	37	c.3218	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	G	32	5.185198	0.94885	.	.	ENSG00000166813	ENST00000394412	T	0.73152	-0.72	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.86208	0.1623	10	0.72032	D	0.01	.	18.812	0.92061	0.0:0.0:1.0:0.0	.	559;1073	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	L	1073	ENSP00000377934:S1073L	ENSP00000377934:S1073L	S	-	2	0	KIF7	87974622	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	9.691000	0.98679	2.422000	0.82143	0.462000	0.41574	TCA	KIF7	-	NULL		0.572	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	G	NM_198525		90173618	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90173618	G	A	90173618	3	1	117	1	0	0	0	0	1	0	0	0	8329	1294	45	1	829	1	KIF7	15	90173618	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6053	90173618	12357774	976	18444										
TTLL13	440307	genome.wustl.edu	37	chr15	90799019	90799019	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttccctggcatgacagaaatCtgccgcaaagatctgctggc	10	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:90799019C>G	ENST00000339615.5	+	5	740	c.450C>G	c.(448-450)atC>atG	p.I150M	TTLL13_ENST00000438251.1_Missense_Mutation_p.I150M|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGACAGAAATCTGCCGCAAAG	0.537																																																	0													198	193	194					15																	90799019		2199	4298	6497	SO:0001583	missense	440307			BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.450C>G	15.37:g.90799019C>G	ENSP00000345294:p.Ile150Met			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.I150M	ENST00000339615.5	37	c.450	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259465	0.59321	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.07908	3.15;3.15	5.3	4.39	0.52855	.	0.066892	0.64402	D	0.000011	T	0.24005	0.0581	M	0.83953	2.67	0.38431	D	0.946441	D	0.61697	0.99	D	0.64237	0.923	T	0.03945	-1.0990	10	0.54805	T	0.06	.	5.4369	0.16486	0.1449:0.6368:0.1404:0.0778	.	150	A6NNM8-2	.	M	150	ENSP00000413362:I150M;ENSP00000345294:I150M	ENSP00000345294:I150M	I	+	3	3	TTLL13	88600023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.283000	0.33237	1.467000	0.48044	0.655000	0.94253	ATC	TTLL13	-	pfam_Tub_tyr_ligase		0.537	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	C	NM_001029964		90799019	1	no_errors	ENST00000438251	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90799019	C	G	90799019	3	3	117	1	0	0	0	0	1	0	0	0	16757	903	32	1	464	1	TTLL13	15	90799019	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	625401	90799019	11732373	977	18445										
MCTP2	55784	genome.wustl.edu	37	chr15	94945136	94945136	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttttaaaatcagatcttatCaagagatgtggaccgtgtga	9	5	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:94945136C>G	ENST00000357742.4	+	16	1973	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	MCTP2_ENST00000557742.1_Nonsense_Mutation_p.S246*|MCTP2_ENST00000331706.4_Nonsense_Mutation_p.S246*|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.S658*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	658					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGATCTTATCAAGAGATGTG	0.328																																																	0													89	92	91					15																	94945136		2197	4298	6495	SO:0001587	stop_gained	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1973C>G	15.37:g.94945136C>G	ENSP00000350377:p.Ser658*		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S658*	ENST00000357742.4	37	c.1973	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.660130	0.98419	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	.	.	.	5.53	5.53	0.82687	.	0.117788	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4529	0.94875	0.0:1.0:0.0:0.0	.	.	.	.	X	658;246;658	.	ENSP00000329646:S246X	S	+	2	0	MCTP2	92746140	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	5.728000	0.68531	2.595000	0.87683	0.655000	0.94253	TCA	MCTP2	-	NULL		0.328	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	C	NM_018349		94945136	1	no_errors	ENST00000357742	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	94945136	C	G	94945136	4	3	117	1	0	0	0	0	0	1	0	0	9424	838	29	1	2035	1	MCTP2	15	94945136	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4146117	94945136	7586256	978	18446										
IGF1R	3480	genome.wustl.edu	37	chr15	99472812	99472812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatgaaaacttcatccatctGatcatcgctctgcccgtcgc	6	14	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:99472812G>A	ENST00000268035.6	+	14	3419	c.2808G>A	c.(2806-2808)ctG>ctA	p.L936L	IGF1R_ENST00000558762.1_Silent_p.L935L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	936					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCATCCATCTGATCATCGCTC	0.428																																																	0													208	186	194					15																	99472812		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2808G>A	15.37:g.99472812G>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.L936	ENST00000268035.6	37	c.2808	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt		0.428	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	G	NM_000875		99472812	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	0.880	A	A	99472812	G	A	99472812	2	1	117	1	0	0	0	0	0	0	0	1	7591	1277	45	1		1	IGF1R	15	99472812	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4527676	99472812	3058580	979	18447										
LINS1	55180	genome.wustl.edu	37	chr15	101110081	101110081	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atatttagattcagttgcatCaaagttattgcaaatggtga	8	4	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:101110081C>G	ENST00000314742.8	-	7	1858	c.1636G>C	c.(1636-1638)Gat>Cat	p.D546H	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	546										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCAGTTGCATCAAAGTTATTG	0.348																																																	0													73	70	71					15																	101110081		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1636G>C	15.37:g.101110081C>G	ENSP00000318423:p.Asp546His		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.D546H	ENST00000314742.8	37	c.1636	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893338	0.52121	.	.	ENSG00000140471	ENST00000314742	T	0.12255	2.7	5.65	3.76	0.43208	.	0.226724	0.38058	N	0.001834	T	0.14013	0.0339	M	0.67953	2.075	0.24198	N	0.995523	B	0.31599	0.33	B	0.28553	0.091	T	0.22347	-1.0219	10	0.62326	D	0.03	-5.2833	6.0493	0.19777	0.0:0.6473:0.1388:0.2138	.	546	Q8NG48	LINES_HUMAN	H	546	ENSP00000318423:D546H	ENSP00000318423:D546H	D	-	1	0	LINS	98927604	0.996000	0.38824	0.140000	0.22221	0.889000	0.51656	1.916000	0.39986	0.734000	0.32515	0.655000	0.94253	GAT	LINS	-	NULL		0.348	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	C	NM_018148		101110081	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.360	G	G	101110081	C	G	101110081	3	3	117	1	0	0	0	0	1	0	0	0	8839	826	29	1	641	1	LINS1	15	101110081	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1637269	101110081	1421311	980	18448										
ITFG3	83986	genome.wustl.edu	37	chr16	310063	310063	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccaagacgtggccctcgtgGagtgtgctgtgccccagcca	13	15	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:310063G>C	ENST00000399932.3	+	5	932	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	ITFG3_ENST00000442458.2_Missense_Mutation_p.E161Q|ITFG3_ENST00000301679.2_Missense_Mutation_p.E161Q|ITFG3_ENST00000450082.2_Missense_Mutation_p.E161Q|ITFG3_ENST00000301678.3_Missense_Mutation_p.E161Q|ITFG3_ENST00000600536.1_Missense_Mutation_p.E161Q	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	161						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGCCCTCGTGGAGTGTGCTGT	0.602																																																	0													54	59	57					16																	310063		2097	4208	6305	SO:0001583	missense	83986			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.481G>C	16.37:g.310063G>C	ENSP00000382814:p.Glu161Gln		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E161Q	ENST00000399932.3	37	c.481	CCDS10402.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.663|6.663	0.490897|0.490897	0.12702|0.12702	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082|ENST00000421000	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	4.9|4.9	-3.6|-3.6	0.04570|0.04570	Quinonprotein alcohol dehydrogenase-like (1);|.	0.861229|.	0.10470|.	N|.	0.670924|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.20530|0.20530	0.585|0.585	0.18873|0.18873	N|N	0.999987|0.999987	B;B|.	0.13594|.	0.008;0.008|.	B;B|.	0.15052|.	0.012;0.007|.	T|T	0.34625|0.34625	-0.9821|-0.9821	10|5	0.11794|.	T|.	0.64|.	-14.7786|-14.7786	9.9128|9.9128	0.41417|0.41417	0.1666:0.5394:0.294:0.0|0.1666:0.5394:0.294:0.0	.|.	161;161|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	Q|C	161;161;161;161;152;161;161;161|89	ENSP00000382814:E161Q;ENSP00000301679:E161Q;ENSP00000399150:E161Q;ENSP00000397477:E161Q;ENSP00000407669:E152Q;ENSP00000398433:E161Q;ENSP00000301678:E161Q;ENSP00000411394:E161Q|.	ENSP00000301678:E161Q|.	E|W	+|+	1|3	0|0	ITFG3|ITFG3	250064|250064	0.057000|0.057000	0.20700|0.20700	0.005000|0.005000	0.12908|0.12908	0.093000|0.093000	0.18481|0.18481	-0.025000|-0.025000	0.12413|0.12413	-0.398000|-0.398000	0.07679|0.07679	-0.345000|-0.345000	0.07892|0.07892	GAG|TGG	ITFG3	-	superfamily_Quinonprotein_ADH-like		0.602	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	G	NM_032039		310063	1	no_errors	ENST00000301678	ensembl	human	known	70_37	missense	SNP	0.010	C	C	310063	G	C	310063	3	2	117	1	0	0	0	0	1	0	0	0	7891	1175	41	1	491	1	ITFG3	16	310063	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		310063	90044690	981	18449										
TMEM8A	58986	genome.wustl.edu	37	chr16	424225	424225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaggggccagcctaccgtgGagaagaacatggtgtaggcg	18	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:424225G>A	ENST00000431232.2	-	10	1911	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	TMEM8A_ENST00000250930.3_Missense_Mutation_p.S391F|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	584					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCTACCGTGGAGAAGAACAT	0.657											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													54	56	56					16																	424225		2200	4298	6498	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1751C>T	16.37:g.424225G>A	ENSP00000401338:p.Ser584Phe	588	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.S584F	ENST00000431232.2	37	c.1751	CCDS10407.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.050778|3.050778	0.55218|0.55218	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942;ENST00000448854	.|T;T;T	.|0.69435	.|-0.4;-0.4;-0.4	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	D|D	0.84088|0.84088	0.5395|0.5395	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88206|0.88206	0.2887|0.2887	5|10	.|0.87932	.|D	.|0	-2.7938|-2.7938	16.3572|16.3572	0.83239|0.83239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|584	.|Q9HCN3	.|TMM8A_HUMAN	S|F	91|584;391;111;132	.|ENSP00000401338:S584F;ENSP00000250930:S391F;ENSP00000401931:S132F	.|ENSP00000250930:S391F	P|S	-|-	1|2	0|0	TMEM8A|TMEM8A	364226|364226	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.437000|0.437000	0.31866|0.31866	6.414000|6.414000	0.73318|0.73318	2.169000|2.169000	0.68431|0.68431	0.563000|0.563000	0.77884|0.77884	CCA|TCC	TMEM8A	-	pfam_DUF3522		0.657	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	G	NM_021259		424225	-1	no_errors	ENST00000431232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	424225	G	A	424225	3	1	117	1	0	0	0	0	1	0	0	0	16244	1174	41	1	580	1	TMEM8A	16	424225	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	114162	424225	89930528	982	18450										
WDR90	197335	genome.wustl.edu	37	chr16	705701	705701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagaagcagaccttcagctCaggtaagagggcgcccacca	11	13	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:705701C>T	ENST00000293879.4	+	16	1847	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.S616L			Q96KV7	WDR90_HUMAN	WD repeat domain 90	616										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACCTTCAGCTCAGGTAAGAGG	0.682																																																	0													16	20	18					16																	705701		2149	4235	6384	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1847C>T	16.37:g.705701C>T	ENSP00000293879:p.Ser616Leu		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S616L	ENST00000293879.4	37	c.1847	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686846	0.29962	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.60548	0.18;0.18	4.67	2.23	0.28157	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.097095	0.43747	U	0.000538	T	0.50667	0.1629	M	0.65498	2.005	0.24816	N	0.99262	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.14578	0.003;0.009;0.004;0.011	T	0.42137	-0.9469	10	0.33141	T	0.24	.	8.1171	0.30950	0.0:0.7561:0.0:0.2439	.	616;616;617;616	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	L	616	ENSP00000448122:S616L;ENSP00000293879:S616L	ENSP00000293879:S616L	S	+	2	0	WDR90	645702	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	2.260000	0.43267	0.197000	0.20387	0.561000	0.74099	TCA	WDR90	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	C	NM_145294		705701	1	no_errors	ENST00000549091	ensembl	human	novel	70_37	missense	SNP	0.098	T	T	705701	C	T	705701	3	4	117	1	0	0	0	0	1	0	0	0	17368	838	29	1	1909	1	WDR90	16	705701	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	281476	705701	89649052	983	18451										
BAIAP3	8938	genome.wustl.edu	37	chr16	1384720	1384720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggtgacctgcacctgggcAccgccatcggcttcgcaggg	14	15	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1384720A>G	ENST00000324385.5	+	1	216	c.58A>G	c.(58-60)Acc>Gcc	p.T20A	BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000397488.2_Intron|BAIAP3_ENST00000426824.3_Intron|BAIAP3_ENST00000397489.1_5'UTR|BAIAP3_ENST00000421665.2_5'Flank|BAIAP3_ENST00000568887.1_Intron	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	20					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCACCTGGGCACCGCCATCGG	0.672																																																	0													8	10	9					16																	1384720		2117	4184	6301	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.58A>G	16.37:g.1384720A>G	ENSP00000324510:p.Thr20Ala		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T20A	ENST00000324385.5	37	c.58	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166783	0.21621	.	.	ENSG00000007516	ENST00000324385	T	0.70516	-0.49	1.48	-0.93	0.10441	.	2.384220	0.03756	U	0.257345	T	0.42108	0.1188	N	0.08118	0	0.09310	N	0.999994	B;B	0.27416	0.178;0.062	B;B	0.16722	0.016;0.007	T	0.34900	-0.9810	10	0.05620	T	0.96	.	4.1487	0.10228	0.565:0.0:0.435:0.0	.	20;20	B4DGA2;O94812	.;BAIP3_HUMAN	A	20	ENSP00000324510:T20A	ENSP00000324510:T20A	T	+	1	0	BAIAP3	1324721	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.628000	0.05515	-0.317000	0.08677	0.172000	0.16884	ACC	BAIAP3	-	NULL		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	A			1384720	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.000	G	G	1384720	A	G	1384720	3	3	117	1	0	0	0	0	1	0	0	0	1305	159	6	5	60	5	BAIAP3	16	1384720	Missense_Mutation	SNP	A	TCGA-EK-A3GK-01A-11D-A20U-09	679019	1384720	88970033	984	18452										
TELO2	9894	genome.wustl.edu	37	chr16	1555439	1555439	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctggctgcccaggagctgtCtaggcctgggtgcctcggga	16	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1555439C>G	ENST00000262319.6	+	16	2150	c.1871C>G	c.(1870-1872)tCt>tGt	p.S624C	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	624					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CAGGAGCTGTCTAGGCCTGGG	0.657																																																	0													36	41	40					16																	1555439		2199	4299	6498	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1871C>G	16.37:g.1555439C>G	ENSP00000262319:p.Ser624Cys		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.S624C	ENST00000262319.6	37	c.1871	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226012	0.58668	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.20463	2.07	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.55704	-0.8099	10	0.72032	D	0.01	-20.1674	17.5618	0.87910	0.0:1.0:0.0:0.0	.	624	Q9Y4R8	TELO2_HUMAN	C	147;624	ENSP00000262319:S624C	ENSP00000262319:S624C	S	+	2	0	TELO2	1495440	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	5.949000	0.70257	2.458000	0.83093	0.455000	0.32223	TCT	TELO2	-	NULL		0.657	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	C	NM_016111		1555439	1	no_errors	ENST00000262319	ensembl	human	known	70_37	missense	SNP	0.998	G	G	1555439	C	G	1555439	3	3	117	1	0	0	0	0	1	0	0	0	15787	913	32	1	1929	1	TELO2	16	1555439	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	170719	1555439	88799314	985	18453										
TELO2	9894	genome.wustl.edu	37	chr16	1555520	1555520	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgccagaggcagccgtctCtcagcctggcagtgccgtgg	14	15	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1555520C>G	ENST00000262319.6	+	16	2231	c.1952C>G	c.(1951-1953)tCt>tGt	p.S651C	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	651					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCGTCTCTCAGCCTGGC	0.672																																																	0													31	35	34					16																	1555520		2197	4298	6495	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1952C>G	16.37:g.1555520C>G	ENSP00000262319:p.Ser651Cys		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.S651C	ENST00000262319.6	37	c.1952	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868412	0.32977	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.17213	2.29	4.96	2.92	0.33932	.	0.654924	0.16158	N	0.226940	T	0.19644	0.0472	L	0.60455	1.87	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.15492	-1.0435	10	0.59425	D	0.04	-1.075	12.9394	0.58333	0.0:0.6874:0.3126:0.0	.	651	Q9Y4R8	TELO2_HUMAN	C	174;651	ENSP00000262319:S651C	ENSP00000262319:S651C	S	+	2	0	TELO2	1495521	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	1.399000	0.34566	0.456000	0.26937	0.455000	0.32223	TCT	TELO2	-	NULL		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	C	NM_016111		1555520	1	no_errors	ENST00000262319	ensembl	human	known	70_37	missense	SNP	0.004	G	G	1555520	C	G	1555520	3	3	117	1	0	0	0	0	1	0	0	0	15787	913	32	1	2010	1	TELO2	16	1555520	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	81	1555520	88799233	986	18454										
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcccacatcctccgtgccctCggccgccgtcacacccctca	7	23	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1797130C>T	ENST00000250894.4	+	6	1002	c.845C>T	c.(844-846)tCg>tTg	p.S282L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	282					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCGTGCCCTCGGCCGCCGTC	0.672																																																	0													52	74	66					16																	1797130		2138	4256	6394	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.845C>T	16.37:g.1797130C>T	ENSP00000250894:p.Ser282Leu		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.S282L	ENST00000250894.4	37	c.845	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540273	0.85917	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.90444	-2.67;-2.67	5.43	4.48	0.54585	.	0.062472	0.64402	N	0.000003	D	0.93284	0.7860	L	0.51422	1.61	0.80722	D	1	D;D;D	0.71674	0.98;0.997;0.998	P;P;D	0.77557	0.769;0.852;0.99	D	0.93614	0.6941	10	0.66056	D	0.02	-10.4727	13.9922	0.64374	0.0:0.9258:0.0:0.0742	.	283;282;282	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	282	ENSP00000250894:S282L;ENSP00000348290:S282L	ENSP00000250894:S282L	S	+	2	0	MAPK8IP3	1737131	1.000000	0.71417	0.937000	0.37676	0.706000	0.40770	7.529000	0.81952	1.300000	0.44818	0.549000	0.68633	TCG	MAPK8IP3	-	NULL		0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	C	NM_001040439		1797130	1	no_errors	ENST00000250894	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1797130	C	T	1797130	3	4	117	1	0	0	0	0	1	0	0	0	9309	893	31	1	867	1	MAPK8IP3	16	1797130	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	241610	1797130	88557623	987	18455										
EME2	197342	genome.wustl.edu	37	chr16	1823777	1823777	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggctgcgagtgccgcatcGagccccagcgcccggcccgc	15	18	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1823777G>C	ENST00000568449.1	+	2	340	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Missense_Mutation_p.E107Q|NME3_ENST00000563498.1_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	107					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GTGCCGCATCGAGCCCCAGCG	0.756								Direct reversal of damage;Homologous recombination																																									0													4	3	4					16																	1823777		1762	3499	5261	SO:0001583	missense	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.319G>C	16.37:g.1823777G>C	ENSP00000457353:p.Glu107Gln		Q8TEP2|Q96RY3	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.E107Q	ENST00000568449.1	37	c.319	CCDS58404.1	16	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002389	0.54254	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	T	0.25912	1.77	3.56	3.56	0.40772	ERCC4 domain (2);	0.413845	0.17382	N	0.176272	T	0.41627	0.1167	.	.	.	0.31248	N	0.694439	D	0.60575	0.988	D	0.63703	0.917	T	0.39881	-0.9592	9	0.27082	T	0.32	-3.6002	14.1144	0.65144	0.0:0.0:1.0:0.0	.	107	A4GXA9	EME2_HUMAN	Q	107	ENSP00000303779:E107Q	ENSP00000303779:E107Q	E	+	1	0	EME2	1763778	0.759000	0.28416	0.060000	0.19600	0.674000	0.39518	3.709000	0.54853	1.707000	0.51288	0.306000	0.20318	GAG	EME2	-	pfam_ERCC4_domain,smart_ERCC4_domain		0.756	EME2-001	NOVEL	basic|CCDS	protein_coding	EME2	HGNC	protein_coding	OTTHUMT00000433185.2	G	NM_001010865		1823777	1	no_errors	ENST00000307394	ensembl	human	known	70_37	missense	SNP	0.880	C	C	1823777	G	C	1823777	3	2	117	1	0	0	0	0	1	0	0	0	5101	1059	37	1	325	1	EME2	16	1823777	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	26647	1823777	88530976	988	18456										
RNF151	146310	genome.wustl.edu	37	chr16	2018792	2018792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcgttcgtagagagctggcgGagctcagcaacttcctggag	14	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2018792G>A	ENST00000569714.1	+	4	612	c.604G>A	c.(604-606)Gag>Aag	p.E202K	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Missense_Mutation_p.E201K	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	202					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						AGAGCTGGCGGAGCTCAGCAA	0.682																																																	0													9	11	10					16																	2018792		2091	4199	6290	SO:0001583	missense	146310			BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.604G>A	16.37:g.2018792G>A	ENSP00000456566:p.Glu202Lys		Q8NHS5	Missense_Mutation	SNP	pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF	p.E202K	ENST00000569714.1	37	c.604	CCDS58405.1	16	.	.	.	.	.	.	.	.	.	.	g	10.04	1.240758	0.22711	.	.	ENSG00000179580	ENST00000321392	T	0.21361	2.01	5.13	4.17	0.49024	TRAF-like (1);	13.988100	0.00166	U	0.000011	T	0.14013	0.0339	N	0.14661	0.345	0.23023	N	0.99842	B	0.22480	0.07	B	0.12156	0.007	T	0.32214	-0.9915	10	0.02654	T	1	-19.3928	11.5105	0.50490	0.0:0.8078:0.1922:0.0	.	202	Q2KHN1	RN151_HUMAN	K	201	ENSP00000325794:E201K	ENSP00000325794:E201K	E	+	1	0	RNF151	1958793	0.520000	0.26250	0.980000	0.43619	0.019000	0.09904	0.781000	0.26774	1.161000	0.42604	-0.165000	0.13383	GAG	RNF151	-	superfamily_TRAF-like		0.682	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF151	HGNC	protein_coding	OTTHUMT00000434030.1	G	NM_174903		2018792	1	no_errors	ENST00000569714	ensembl	human	known	70_37	missense	SNP	0.996	A	A	2018792	G	A	2018792	3	1	117	1	0	0	0	0	1	0	0	0	13482	1175	41	1	618	1	RNF151	16	2018792	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	195015	2018792	88335961	989	18457										
PKD1	5310	genome.wustl.edu	37	chr16	2142996	2142996	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggctgtgcagctcctgcttGatggcgctttgcagacggta	14	11	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2142996G>A	ENST00000262304.4	-	38	11323	c.11115C>T	c.(11113-11115)atC>atT	p.I3705I	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Silent_p.I3704I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3705					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTCCTGCTTGATGGCGCTTT	0.597																																																	0													109	112	111					16																	2142996		2198	4300	6498	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11115C>T	16.37:g.2142996G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.I3705	ENST00000262304.4	37	c.11115	CCDS32369.1	16																																																																																			PKD1	-	NULL		0.597	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2142996	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2142996	G	A	2142996	2	1	117	1	0	0	0	0	0	0	0	1	11987	1280	45	1		1	PKD1	16	2142996	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	124204	2142996	88211757	990	18458										
SRRM2	23524	genome.wustl.edu	37	chr16	2812793	2812793	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatgaagaaatctcgcatttCttcaaggcggagcaggtctc	10	9	4	2	rs200852292		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2812793C>A	ENST00000301740.8	+	11	2813	c.2264C>A	c.(2263-2265)tCt>tAt	p.S755Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	755	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCGCATTTCTTCAAGGCGG	0.483																																																	0													107	111	110					16																	2812793		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2264C>A	16.37:g.2812793C>A	ENSP00000301740:p.Ser755Tyr		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S755Y	ENST00000301740.8	37	c.2264	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747678	0.30955	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.28454	1.61	5.27	5.27	0.74061	.	0.100430	0.45126	D	0.000394	T	0.43787	0.1263	L	0.27053	0.805	0.39946	D	0.974477	D	0.71674	0.998	D	0.80764	0.994	T	0.46735	-0.9170	10	0.72032	D	0.01	-10.4184	16.3748	0.83382	0.0:1.0:0.0:0.0	.	755	Q9UQ35	SRRM2_HUMAN	Y	755;755;7;720	ENSP00000301740:S755Y	ENSP00000301740:S755Y	S	+	2	0	SRRM2	2752794	0.114000	0.22134	0.997000	0.53966	0.874000	0.50279	3.238000	0.51352	2.455000	0.83008	0.563000	0.77884	TCT	SRRM2	-	NULL		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2812793	1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.998	A	A	2812793	C	A	2812793	3	1	117	1	0	0	0	0	1	0	0	0	15199	913	32	3	2302	3	SRRM2	16	2812793	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	669797	2812793	87541960	991	18459										
SRRM2	23524	genome.wustl.edu	37	chr16	2813042	2813042	+	Missense_Mutation	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagacaaagtcattccagttCatctcctcatcctaaagtga							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2813042C>T	ENST00000301740.8	+	11	3062	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	838	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATTCCAGTTCATCTCCTCAT	0.493																																																	0													191	189	190					16																	2813042		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2513C>T	16.37:g.2813042C>T	ENSP00000301740:p.Ser838Leu		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S838L	ENST00000301740.8	37	c.2513	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038977	0.07497	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.26067	1.76	5.12	-3.07	0.05363	.	0.766695	0.11512	N	0.556613	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	10	0.45353	T	0.12	9.1792	6.4224	0.21750	0.0:0.4265:0.1216:0.4519	.	838	Q9UQ35	SRRM2_HUMAN	L	838;838;90;803	ENSP00000301740:S838L	ENSP00000301740:S838L	S	+	2	0	SRRM2	2753043	0.053000	0.20554	0.024000	0.17045	0.712000	0.41017	0.049000	0.14099	-0.975000	0.03546	-0.140000	0.14226	TCA	SRRM2	-	NULL		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2813042	1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.042	T	T	2813042	C	T	2813042	3	4	117	1	0	0	0	0	1	0	0	0	15199	838	29	1	2551	1	SRRM2	16	2813042	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	249	2813042	87541711	992	18460	105	2								
SRRM2	23524	genome.wustl.edu	37	chr16	2813050	2813050	+	Missense_Mutation	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcattccagttcatctcctCatcctaaagtgaaatctgga							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2813050C>T	ENST00000301740.8	+	11	3070	c.2521C>T	c.(2521-2523)Cat>Tat	p.H841Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	841	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.H841Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCATCTCCTCATCCTAAAGT	0.493																																																	1	Substitution - Missense(1)	lung(1)											181	178	179					16																	2813050		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2521C>T	16.37:g.2813050C>T	ENSP00000301740:p.His841Tyr		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.H841Y	ENST00000301740.8	37	c.2521	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	2.717	-0.267506	0.05754	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.23147	1.92	5.49	2.25	0.28309	.	0.815187	0.10997	N	0.610902	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	10	0.14252	T	0.57	0.1144	2.1923	0.03902	0.1563:0.5184:0.1516:0.1737	.	841	Q9UQ35	SRRM2_HUMAN	Y	841;841;93;806	ENSP00000301740:H841Y	ENSP00000301740:H841Y	H	+	1	0	SRRM2	2753051	0.381000	0.25140	0.981000	0.43875	0.629000	0.37895	0.450000	0.21762	1.333000	0.45449	0.655000	0.94253	CAT	SRRM2	-	NULL		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2813050	1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.282	T	T	2813050	C	T	2813050	3	4	117	1	0	0	0	0	1	0	0	0	15199	826	29	1	2559	1	SRRM2	16	2813050	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8	2813050	87541703	993	18461	105	2								
ZNF205	7755	genome.wustl.edu	37	chr16	3165888	3165888	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggaggaccagagaccggcaGatggctgcagcgctcctcac	15	13	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3165888G>C	ENST00000382192.3	+	4	535	c.330G>C	c.(328-330)caG>caC	p.Q110H	ZNF205_ENST00000219091.4_Missense_Mutation_p.Q110H|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GAGACCGGCAGATGGCTGCAG	0.652																																																	0													34	36	35					16																	3165888		2197	4300	6497	SO:0001583	missense	7755			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.330G>C	16.37:g.3165888G>C	ENSP00000371627:p.Gln110His		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q110H	ENST00000382192.3	37	c.330	CCDS10494.2	16	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064538	0.55432	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.49432	3.16;3.16;0.78;3.16	5.23	1.72	0.24424	.	0.164027	0.29246	N	0.012706	T	0.39306	0.1073	L	0.57536	1.79	0.23430	N	0.997696	P	0.50943	0.94	P	0.44732	0.459	T	0.24190	-1.0167	10	0.38643	T	0.18	-21.3769	3.0434	0.06146	0.3389:0.0:0.4718:0.1894	.	110	O95201	ZN205_HUMAN	H	110	ENSP00000371627:Q110H;ENSP00000219091:Q110H;ENSP00000394360:Q110H;ENSP00000403306:Q110H	ENSP00000219091:Q110H	Q	+	3	2	ZNF205	3105889	0.993000	0.37304	1.000000	0.80357	0.893000	0.52053	0.640000	0.24705	0.720000	0.32209	0.491000	0.48974	CAG	ZNF205	-	NULL		0.652	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	G	NM_003456		3165888	1	no_errors	ENST00000219091	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3165888	G	C	3165888	3	2	117	1	0	0	0	0	1	0	0	0	17794	933	33	1	340	1	ZNF205	16	3165888	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	352838	3165888	87188865	994	18462										
TIGD7	91151	genome.wustl.edu	37	chr16	3349537	3349537	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttatctcctttctcttgctCatcatcactttcttcaaata	1	12	7	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3349537C>T	ENST00000396862.1	-	2	2906	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.E360K	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	360	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTCTCTTGCTCATCATCACTT	0.338																																																	0													59	63	61					16																	3349537		2197	4298	6495	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1078G>A	16.37:g.3349537C>T	ENSP00000380071:p.Glu360Lys		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E360K	ENST00000396862.1	37	c.1078	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779248	0.31502	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.34667	1.35;1.35	4.85	4.85	0.62838	.	0.000000	0.40302	U	0.001123	T	0.47985	0.1475	L	0.50333	1.59	0.32733	N	0.508695	D	0.69078	0.997	D	0.79108	0.992	T	0.45804	-0.9236	10	0.06891	T	0.86	.	13.471	0.61281	0.0:1.0:0.0:0.0	.	360	Q6NT04	TIGD7_HUMAN	K	360	ENSP00000380071:E360K;ENSP00000268674:E360K	ENSP00000268674:E360K	E	-	1	0	TIGD7	3289538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.266000	0.43320	2.249000	0.74217	0.655000	0.94253	GAG	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like		0.338	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349537	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3349537	C	T	3349537	3	4	117	1	0	0	0	0	1	0	0	0	15931	835	29	1	575	1	TIGD7	16	3349537	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	183649	3349537	87005216	995	18463										
BTBD12	84464	genome.wustl.edu	37	chr16	3656621	3656621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgtaggaccaattgtgctGtgcggggtttggagggactt	17	6	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3656621G>A	ENST00000294008.3	-	3	1254	c.614C>T	c.(613-615)aCa>aTa	p.T205I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	205	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAATTGTGCTGTGCGGGGTTT	0.557								Direct reversal of damage																																									0													186	186	186					16																	3656621		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.614C>T	16.37:g.3656621G>A	ENSP00000294008:p.Thr205Ile		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T205I	ENST00000294008.3	37	c.614	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520077	0.27211	.	.	ENSG00000188827	ENST00000294008	T	0.01197	5.19	5.16	4.18	0.49190	.	0.547918	0.17158	N	0.184795	T	0.01222	0.0040	L	0.38175	1.15	0.09310	N	1	P	0.45126	0.851	B	0.36134	0.218	T	0.54105	-0.8343	10	0.49607	T	0.09	.	10.5256	0.44945	0.1628:0.0:0.8372:0.0	.	205	Q8IY92	SLX4_HUMAN	I	205	ENSP00000294008:T205I	ENSP00000294008:T205I	T	-	2	0	SLX4	3596622	0.131000	0.22433	0.036000	0.18154	0.435000	0.31806	2.345000	0.44018	1.280000	0.44463	0.655000	0.94253	ACA	SLX4	-	NULL		0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	G	NM_032444		3656621	-1	no_errors	ENST00000294008	ensembl	human	known	70_37	missense	SNP	0.017	A	A	3656621	G	A	3656621	3	1	117	1	0	0	0	0	1	0	0	0	1543	1377	48	4	4942	4	BTBD12	16	3656621	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	307084	3656621	86698132	996	18464										
CREBBP	1387	genome.wustl.edu	37	chr16	3817784	3817784	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgttactgctactctcttCttcctctttaacttctactt	3	14	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3817784C>A	ENST00000262367.5	-	16	3996	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1025*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1063	Poly-Glu.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTACTCTCTTCTTCCTCTTTA	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													267	236	247					16																	3817784		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3187G>T	16.37:g.3817784C>A	ENSP00000262367:p.Glu1063*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E1063*	ENST00000262367.5	37	c.3187	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	49	15.081322	0.99821	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-19.4274	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	1063;1093;1025	.	ENSP00000262367:E1063X	E	-	1	0	CREBBP	3757785	1.000000	0.71417	0.997000	0.53966	0.635000	0.38103	7.152000	0.77419	2.808000	0.96608	0.655000	0.94253	GAA	CREBBP	-	NULL		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3817784	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3817784	C	A	3817784	4	1	117	1	0	0	0	0	0	1	0	0	3866	922	32	3	4205	3	CREBBP	16	3817784	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	161163	3817784	86536969	997	18465										
CREBBP	1387	genome.wustl.edu	37	chr16	3817799	3817799	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcttcttcctctttaacttCtactttcacttcaggtttct	2	13	7	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3817799C>A	ENST00000262367.5	-	16	3981	c.3172G>T	c.(3172-3174)Gaa>Taa	p.E1058*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1020*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1058					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTTAACTTCTACTTTCACT	0.428			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													253	226	235					16																	3817799		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3172G>T	16.37:g.3817799C>A	ENSP00000262367:p.Glu1058*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E1058*	ENST00000262367.5	37	c.3172	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	49	15.504742	0.99836	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	4.66	0.58398	.	0.228496	0.38164	N	0.001783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.1365	14.6019	0.68447	0.0:0.9299:0.0:0.0701	.	.	.	.	X	1058;1088;1020	.	ENSP00000262367:E1058X	E	-	1	0	CREBBP	3757800	1.000000	0.71417	0.723000	0.30687	0.902000	0.53008	5.462000	0.66707	1.513000	0.48852	0.655000	0.94253	GAA	CREBBP	-	NULL		0.428	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3817799	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	3817799	C	A	3817799	4	1	117	1	0	0	0	0	0	1	0	0	3866	922	32	3	4220	3	CREBBP	16	3817799	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	15	3817799	86536954	998	18466										
C16orf71	146562	genome.wustl.edu	37	chr16	4786568	4786568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgggctctccctgggcctCccagatggggccctgggatg	16	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:4786568C>T	ENST00000299320.5	+	2	531	c.53C>T	c.(52-54)tCc>tTc	p.S18F	C16orf71_ENST00000590191.1_Missense_Mutation_p.S18F|ANKS3_ENST00000304283.4_5'Flank|ANKS3_ENST00000450067.2_5'Flank|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000592711.1_5'Flank|ANKS3_ENST00000585773.1_5'Flank	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	18										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCCTGGGCCTCCCAGATGGGG	0.597																																																	0													63	64	64					16																	4786568		2197	4300	6497	SO:0001583	missense	146562			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.53C>T	16.37:g.4786568C>T	ENSP00000299320:p.Ser18Phe		Q8NCV0	Missense_Mutation	SNP	NULL	p.S18F	ENST00000299320.5	37	c.53	CCDS10521.1	16	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934867	0.34189	.	.	ENSG00000166246	ENST00000299320	T	0.14391	2.51	1.47	1.47	0.22746	.	1.060720	0.07566	U	0.917740	T	0.24353	0.0590	L	0.43152	1.355	0.09310	N	1	D	0.61697	0.99	D	0.64237	0.923	T	0.29181	-1.0020	10	0.30078	T	0.28	.	8.4036	0.32601	0.0:1.0:0.0:0.0	.	18	Q8IYS4	CP071_HUMAN	F	18	ENSP00000299320:S18F	ENSP00000299320:S18F	S	+	2	0	C16orf71	4726569	0.267000	0.24122	0.289000	0.24876	0.092000	0.18411	0.681000	0.25320	1.164000	0.42652	0.561000	0.74099	TCC	C16orf71	-	NULL		0.597	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf71	HGNC	protein_coding	OTTHUMT00000251644.1	C	NM_139170		4786568	1	no_errors	ENST00000299320	ensembl	human	known	70_37	missense	SNP	0.076	T	T	4786568	C	T	4786568	3	4	117	1	0	0	0	0	1	0	0	0	1834	855	30	1	55	1	C16orf71	16	4786568	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	968769	4786568	85568185	999	18467										
SEPT12	124404	genome.wustl.edu	37	chr16	4833501	4833501	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gattttgtcattgatgtcctCgtcaaagcacatctgggggt	11	8	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:4833501C>A	ENST00000268231.8	-	7	951	c.688G>T	c.(688-690)Gag>Tag	p.E230*	SEPT12_ENST00000396693.5_Nonsense_Mutation_p.E184*|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	230	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TTGATGTCCTCGTCAAAGCAC	0.577																																																	0													199	174	182					16																	4833501		2197	4300	6497	SO:0001587	stop_gained	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.688G>T	16.37:g.4833501C>A	ENSP00000268231:p.Glu230*		Q0P6B0|Q1PBH0|Q96LL0	Nonsense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.E230*	ENST00000268231.8	37	c.688	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488592	0.84854	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.0845	0.59132	0.0:0.8373:0.1627:0.0	.	.	.	.	X	184;230	.	ENSP00000268231:E230X	E	-	1	0	SEPT12	4773502	1.000000	0.71417	0.937000	0.37676	0.263000	0.26337	5.873000	0.69644	2.481000	0.83766	0.462000	0.41574	GAG	SEPT12	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.577	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4833501	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	4833501	C	A	4833501	4	1	117	1	0	0	0	0	0	1	0	0	14092	893	31	3	404	3	SEPT12	16	4833501	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	46933	4833501	85521252	1000	18468										
CIITA	4261	genome.wustl.edu	37	chr16	11002973	11002973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggcagcagaggagaagttCaccatcgagcctttcaaagc	11	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:11002973C>T	ENST00000324288.8	+	12	2878	c.2745C>T	c.(2743-2745)ttC>ttT	p.F915F	CIITA_ENST00000381835.5_Silent_p.F331F|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	915					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGAGAAGTTCACCATCGAGC	0.592			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													93	62	73					16																	11002973		2197	4300	6497	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2745C>T	16.37:g.11002973C>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.F915	ENST00000324288.8	37	c.2745	CCDS10544.1	16																																																																																			CIITA	-	NULL		0.592	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	C	NM_000246		11002973	1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11002973	C	T	11002973	2	4	117	1	0	0	0	0	0	0	0	1	3433	825	29	1		1	CIITA	16	11002973	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6169472	11002973	79351780	1001	18469										
SNX29	92017	genome.wustl.edu	37	chr16	12571627	12571627	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atatttatcgccggtatacaGagttcaggagtttgcaccac	9	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:12571627G>A	ENST00000566228.1	+	19	2158	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	SNX29_ENST00000306030.3_Missense_Mutation_p.E312K|SNX29_ENST00000323433.4_Missense_Mutation_p.E312K	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	697	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCGGTATACAGAGTTCAGGAG	0.418																																																	0													69	66	67					16																	12571627		1885	4105	5990	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2089G>A	16.37:g.12571627G>A	ENSP00000456480:p.Glu697Lys		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E312K	ENST00000566228.1	37	c.934	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222014	0.79464	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.49139	0.79;0.79	5.84	5.84	0.93424	.	0.125415	0.52532	D	0.000072	T	0.67933	0.2946	M	0.79475	2.455	0.43152	D	0.994921	.	.	.	.	.	.	T	0.70699	-0.4800	8	0.66056	D	0.02	-26.7043	17.6471	0.88151	0.0:0.0:1.0:0.0	.	.	.	.	K	312	ENSP00000306940:E312K;ENSP00000322226:E312K	ENSP00000306940:E312K	E	+	1	0	SNX29	12479128	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	9.236000	0.95360	2.758000	0.94735	0.655000	0.94253	GAG	SNX29	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.418	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	G			12571627	1	no_errors	ENST00000306030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12571627	G	A	12571627	3	1	117	1	0	0	0	0	1	0	0	0	14928	943	33	1	976	1	SNX29	16	12571627	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1568654	12571627	77783126	1002	18470										
BFAR	51283	genome.wustl.edu	37	chr16	14749053	14749053	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgtgaagcccccccagaatCtctgggaatataaggtgaac	11	11	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:14749053C>A	ENST00000261658.2	+	5	1046	c.769C>A	c.(769-771)Ctc>Atc	p.L257I	BFAR_ENST00000426842.2_Missense_Mutation_p.L129I|BFAR_ENST00000563971.1_Missense_Mutation_p.L132I	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	257					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCCCCAGAATCTCTGGGAATA	0.343																																																	0													52	56	55					16																	14749053		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.769C>A	16.37:g.14749053C>A	ENSP00000261658:p.Leu257Ile		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.L257I	ENST00000261658.2	37	c.769	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405311	0.62288	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.60171	2.53;0.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.78314	0.981;0.991;0.991	T	0.65623	-0.6123	10	0.87932	D	0	.	10.602	0.45373	0.0:0.9111:0.0:0.0889	.	129;257;257	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	I	257;129	ENSP00000261658:L257I;ENSP00000400634:L129I	ENSP00000261658:L257I	L	+	1	0	BFAR	14656554	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.765000	0.62271	2.239000	0.73571	0.313000	0.20887	CTC	BFAR	-	NULL		0.343	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	C	NM_016561		14749053	1	no_errors	ENST00000261658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14749053	C	A	14749053	3	1	117	1	0	0	0	0	1	0	0	0	1415	913	32	3	783	3	BFAR	16	14749053	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2177426	14749053	75605700	1003	18471										
C16orf45	89927	genome.wustl.edu	37	chr16	15675126	15675126	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaggatgagctaatccagaaGatccacaaactggtgcagaa	11	8	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:15675126G>T	ENST00000300006.4	+	4	716	c.357G>T	c.(355-357)aaG>aaT	p.K119N	C16orf45_ENST00000452191.2_Missense_Mutation_p.K102N|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Missense_Mutation_p.K71N|C16orf45_ENST00000566490.1_Missense_Mutation_p.K119N	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	119										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TAATCCAGAAGATCCACAAAC	0.507																																																	0													99	86	91					16																	15675126		2197	4300	6497	SO:0001583	missense	89927			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.357G>T	16.37:g.15675126G>T	ENSP00000300006:p.Lys119Asn		O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	pfam_DUF3585	p.K119N	ENST00000300006.4	37	c.357	CCDS10561.1	16	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935565	0.92458	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.47869	0.83;0.83	5.33	5.33	0.75918	Domain of unknown function DUF3585 (1);	0.133832	0.64402	D	0.000002	T	0.66538	0.2799	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.74674	0.984;0.868	T	0.68394	-0.5420	10	0.66056	D	0.02	-19.3209	18.5993	0.91242	0.0:0.0:1.0:0.0	.	63;119	B4DE25;Q96MC5	.;CP045_HUMAN	N	119;102	ENSP00000300006:K119N;ENSP00000408976:K102N	ENSP00000300006:K119N	K	+	3	2	C16orf45	15582627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.175000	0.58263	2.499000	0.84300	0.655000	0.94253	AAG	C16orf45	-	pfam_DUF3585		0.507	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf45	HGNC	protein_coding	OTTHUMT00000252130.2	G	NM_033201		15675126	1	no_errors	ENST00000300006	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15675126	G	T	15675126	3	4	117	1	0	0	0	0	1	0	0	0	1818	933	33	3	430	3	C16orf45	16	15675126	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	926073	15675126	74679627	1004	18472										
C16orf88	400506	genome.wustl.edu	37	chr16	19725832	19725832	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtccccaacatccctggcctCcctggcctcacagaaccaag	7	19	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:19725832C>A	ENST00000219837.7	-	2	604	c.526G>T	c.(526-528)Gag>Tag	p.E176*	IQCK_ENST00000320394.6_5'Flank|KNOP1_ENST00000568230.1_5'Flank|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	176	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCCCTGGCCTCCCTGGCCTCA	0.567																																																	0													62	67	66					16																	19725832		2162	4289	6451	SO:0001587	stop_gained	400506			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.526G>T	16.37:g.19725832C>A	ENSP00000219837:p.Glu176*		O43328|Q5FWF3	Nonsense_Mutation	SNP	NULL	p.E176*	ENST00000219837.7	37	c.526	CCDS42127.1	16	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729407	0.48833	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.05	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.0818	6.4375	0.21831	0.0:0.7798:0.0:0.2202	.	.	.	.	X	176	.	.	E	-	1	0	C16orf88	19633333	0.015000	0.18098	0.019000	0.16419	0.113000	0.19764	0.873000	0.28052	0.668000	0.31126	0.561000	0.74099	GAG	C16orf88	-	NULL		0.567	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf88	HGNC	protein_coding	OTTHUMT00000435993.2	C	NM_001012991		19725832	-1	no_errors	ENST00000219837	ensembl	human	known	70_37	nonsense	SNP	0.020	A	A	19725832	C	A	19725832	4	1	117	1	0	0	0	0	0	1	0	0	1845	864	30	3	866	3	C16orf88	16	19725832	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4050706	19725832	70628921	1005	18473										
GP2	2813	genome.wustl.edu	37	chr16	20334257	20334257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagggcaaggcactcctcctCggggcggcaggccttctcac	14	15	1	0	rs530327819		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:20334257C>T	ENST00000381362.4	-	5	665	c.589G>A	c.(589-591)Gag>Aag	p.E197K	GP2_ENST00000341642.5_Missense_Mutation_p.E47K|GP2_ENST00000302555.5_Missense_Mutation_p.E194K|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.E50K	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	197	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTCCTCCTCGGGGCGGCAG	0.577													C|||	1	0.000199681	0	0	5008	,	,		19699	0.001		0	False		,,,				2504	0																0													82	63	69					16																	20334257		2203	4300	6503	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.589G>A	16.37:g.20334257C>T	ENSP00000370767:p.Glu197Lys		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E197K	ENST00000381362.4	37	c.589	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	18.68	3.674967	0.67928	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84	4.88	-0.867	0.10655	.	.	.	.	.	D	0.98245	0.9419	L	0.58101	1.795	0.09310	N	1	P;D;D;P	0.57899	0.886;0.981;0.972;0.906	P;P;P;B	0.48488	0.491;0.579;0.469;0.368	D	0.96255	0.9186	9	0.33940	T	0.23	-8.3747	5.307	0.15809	0.0:0.4682:0.3088:0.223	.	47;175;194;197	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	K	194;197;50;47;175	ENSP00000304044:E194K;ENSP00000370767:E197K;ENSP00000370765:E50K;ENSP00000343861:E47K	ENSP00000304044:E194K	E	-	1	0	GP2	20241758	0.006000	0.16342	0.034000	0.17996	0.394000	0.30568	0.693000	0.25497	0.016000	0.14998	-0.140000	0.14226	GAG	GP2	-	NULL		0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	C	NM_016295		20334257	-1	no_errors	ENST00000381362	ensembl	human	known	70_37	missense	SNP	0.018	T	T	20334257	C	T	20334257	3	4	117	1	0	0	0	0	1	0	0	0	6601	893	31	1	1056	1	GP2	16	20334257	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	608425	20334257	70020496	1006	18474										
OTOA	146183	genome.wustl.edu	37	chr16	21721391	21721391	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggccaagagccaggtcatCatcttgtctgccaaatactt	9	11	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:21721391C>A	ENST00000286149.4	+	12	1330	c.1329C>A	c.(1327-1329)atC>atA	p.I443I	OTOA_ENST00000388956.4_Silent_p.I350I|OTOA_ENST00000388958.3_Silent_p.I429I|OTOA_ENST00000388957.3_Silent_p.I105I			Q7RTW8	OTOAN_HUMAN	otoancorin	443					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGGTCATCATCTTGTCTG	0.517																																																	0													68	56	60					16																	21721391		2199	4300	6499	SO:0001819	synonymous_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1329C>A	16.37:g.21721391C>A			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	NULL	p.I443	ENST00000286149.4	37	c.1329		16																																																																																			OTOA	-	NULL		0.517	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	C			21721391	1	no_errors	ENST00000286149	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21721391	C	A	21721391	2	1	117	1	0	0	0	0	0	0	0	1	11326	816	29	3		3	OTOA	16	21721391	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1387134	21721391	68633362	1007	18475										
UQCRC2	7385	genome.wustl.edu	37	chr16	21974083	21974083	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atctcgatgtcttctgtagtGatattctaatggagttcctg	9	7	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:21974083G>A	ENST00000268379.4	+	6	1155	c.391G>A	c.(391-393)Gat>Aat	p.D131N	UQCRC2_ENST00000561553.1_Splice_Site_p.D131N	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	131					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTTCTGTAGTGATATTCTAAT	0.398																																					Colon(123;450 1645 12841 25393 45623)												0													125	115	118					16																	21974083		2198	4300	6498	SO:0001630	splice_region_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.390-1G>A	16.37:g.21974083G>A			B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D131N	ENST00000268379.4	37	c.391	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754068	0.49362	.	.	ENSG00000140740	ENST00000268379	T	0.33438	1.41	4.8	4.8	0.61643	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.134947	0.64402	D	0.000003	T	0.33440	0.0863	L	0.59912	1.85	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.10636	-1.0621	10	0.41790	T	0.15	-8.0586	16.7867	0.85575	0.0:0.0:1.0:0.0	.	131	P22695	QCR2_HUMAN	N	131	ENSP00000268379:D131N	ENSP00000268379:D131N	D	+	1	0	UQCRC2	21881584	1.000000	0.71417	0.997000	0.53966	0.439000	0.31926	9.328000	0.96403	2.361000	0.80049	0.563000	0.77884	GAT	UQCRC2	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd		0.398	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	G	NM_003366	Missense_Mutation	21974083	1	no_errors	ENST00000268379	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21974083	G	A	21974083	5	1	117	1	0	0	0	0	0	0	1	0	17051	1304	45	1	413	1	UQCRC2	16	21974083	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	252692	21974083	68380670	1008	18476										
POLR3E	55718	genome.wustl.edu	37	chr16	22337179	22337179	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagcgggagctgcagcggcgGaaggagcagctgcgggtgcc	21	10	0	0	rs369541599		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:22337179G>A	ENST00000299853.5	+	18	1613	c.1446G>A	c.(1444-1446)cgG>cgA	p.R482R	POLR3E_ENST00000359210.4_Silent_p.R482R|POLR3E_ENST00000564209.1_Silent_p.R482R|POLR3E_ENST00000418581.2_Silent_p.R446R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	482					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGCAGCGGCGGAAGGAGCAGC	0.701																																																	0								G		0,4378		0,0,2189	21	20	21		1446	3.3	1	16		21	3,8587		0,3,4292	no	coding-synonymous	POLR3E	NM_018119.2		0,3,6481	AA,AG,GG		0.0349,0.0,0.0231		482/709	22337179	3,12965	2189	4295	6484	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1446G>A	16.37:g.22337179G>A			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.R482	ENST00000299853.5	37	c.1446	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.701	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22337179	1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	0.992	A	A	22337179	G	A	22337179	2	1	117	1	0	0	0	0	0	0	0	1	12256	1161	41	1		1	POLR3E	16	22337179	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	363096	22337179	68017574	1009	18477										
POLR3E	55718	genome.wustl.edu	37	chr16	22337467	22337467	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agacagtttgtgctcacgctGagcgaactcaagcgcctctt	10	12	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:22337467G>A	ENST00000299853.5	+	18	1901	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L	POLR3E_ENST00000359210.4_Silent_p.L578L|POLR3E_ENST00000564209.1_Silent_p.L578L|POLR3E_ENST00000418581.2_Silent_p.L542L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	578					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGCTCACGCTGAGCGAACTCA	0.642																																																	0													31	35	33					16																	22337467		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1734G>A	16.37:g.22337467G>A			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.L578	ENST00000299853.5	37	c.1734	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22337467	1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22337467	G	A	22337467	2	1	117	1	0	0	0	0	0	0	0	1	12256	1277	45	1		1	POLR3E	16	22337467	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	288	22337467	68017286	1010	18478										
LOC100132247	100132247	genome.wustl.edu	37	chr16	22545935	22545935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgggggccgcttccaccctCagcggatgataatctcaaga	12	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:22545935C>T	ENST00000517539.1	+	8	1706	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	NPIPB5_ENST00000424340.1_Missense_Mutation_p.S544L|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	544	Pro-rich.					integral component of membrane (GO:0016021)											CTTCCACCCTCAGCGGATGAT	0.567																																																	0													3	3	3					16																	22545935		644	1467	2111	SO:0001583	missense	100132247				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1631C>T	16.37:g.22545935C>T	ENSP00000430633:p.Ser544Leu		B4DK13	Missense_Mutation	SNP	pfam_NPIP	p.S544L	ENST00000517539.1	37	c.1631	CCDS45443.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.19|10.19	1.282244|1.282244	0.23392|0.23392	.|.	.|.	ENSG00000243716|ENSG00000243716	ENST00000457705|ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249	.|T;T;T;T	.|0.22134	.|2.18;1.97;1.97;2.18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33789	.|0.0875	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P	.|0.38863	.|0.597;0.65	.|P;P	.|0.58391	.|0.838;0.637	.|T	.|0.35251	.|-0.9796	.|7	0.05436|0.87932	T|D	0.98|0	.|.	.|.	.|.	.|.	.|.	.|544;544	.|F5GWX0;A8MRT5	.|.;K220L_HUMAN	X|L	378|544;544;544;422;544;544	.|ENSP00000445388:S544L;ENSP00000440703:S544L;ENSP00000430633:S544L;ENSP00000431553:S544L	ENSP00000446325:Q378X|ENSP00000441680:S544L	Q|S	+|+	1|2	0|0	RP11-368J21.2|RP11-368J21.2	22453436|22453436	0.018000|0.018000	0.18449|0.18449	0.015000|0.015000	0.15790|0.15790	0.015000|0.015000	0.08874|0.08874	0.076000|0.076000	0.14712|0.14712	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	CAG|TCA	61E3.4	-	pfam_NPIP		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100132247	Uniprot_genename	protein_coding	OTTHUMT00000374343.2	C	NM_001135865		22545935	1	no_errors	ENST00000424340	ensembl	human	known	70_37	missense	SNP	0.015	T	T	22545935	C	T	22545935	3	4	117	1	0	0	0	0	1	0	0	0	8889	838	29	1	1657	1	LOC100132247	16	22545935	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	208468	22545935	67808818	1011	18479										
SCNN1G	6340	genome.wustl.edu	37	chr16	23197694	23197694	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgatgcggtggtactgcctCaacaccaacacccatggctg	10	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:23197694C>G	ENST00000300061.2	+	2	245	c.102C>G	c.(100-102)ctC>ctG	p.L34L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	34					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGTACTGCCTCAACACCAACA	0.617																																																	0													65	63	64					16																	23197694		2197	4300	6497	SO:0001819	synonymous_variant	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.102C>G	16.37:g.23197694C>G			P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L34	ENST00000300061.2	37	c.102	CCDS10608.1	16																																																																																			SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.617	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	C	NM_001039		23197694	1	no_errors	ENST00000300061	ensembl	human	known	70_37	silent	SNP	0.329	G	G	23197694	C	G	23197694	2	3	117	1	0	0	0	0	0	0	0	1	13960	813	29	1		1	SCNN1G	16	23197694	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	651759	23197694	67157059	1012	18480										
SCNN1G	6340	genome.wustl.edu	37	chr16	23226541	23226541	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	attgcccgccgccagtggcaGaaagccaaggagtggtgggc	16	11	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:23226541G>A	ENST00000300061.2	+	13	1844	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	567					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.Q567H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCAGTGGCAGAAAGCCAAGG	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											90	86	88					16																	23226541		2197	4300	6497	SO:0001819	synonymous_variant	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1701G>A	16.37:g.23226541G>A			P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.Q567	ENST00000300061.2	37	c.1701	CCDS10608.1	16																																																																																			SCNN1G	-	tigrfam_EnaC		0.572	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	G	NM_001039		23226541	1	no_errors	ENST00000300061	ensembl	human	known	70_37	silent	SNP	1.000	A	A	23226541	G	A	23226541	2	1	117	1	0	0	0	0	0	0	0	1	13960	933	33	1		1	SCNN1G	16	23226541	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	28847	23226541	67128212	1013	18481										
TNRC6A	27327	genome.wustl.edu	37	chr16	24800641	24800641	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gattctagcacaaactgtaaGaatgctgttgtaagtgactt	9	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:24800641G>A	ENST00000395799.3	+	6	807	c.678G>A	c.(676-678)aaG>aaA	p.K226K	TNRC6A_ENST00000315183.7_Silent_p.K226K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	226	Interaction with argonaute family proteins.|Ser-rich.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAAACTGTAAGAATGCTGTTG	0.458																																																	0													67	72	71					16																	24800641		2179	4290	6469	SO:0001819	synonymous_variant	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.678G>A	16.37:g.24800641G>A			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.K226	ENST00000395799.3	37	c.678	CCDS10624.2	16																																																																																			TNRC6A	-	NULL		0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	G	NM_020847		24800641	1	no_errors	ENST00000395799	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24800641	G	A	24800641	2	1	117	1	0	0	0	0	0	0	0	1	16370	933	33	1		1	TNRC6A	16	24800641	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1574100	24800641	65554112	1014	18482										
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25266673	25266673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgccacctcccacgctgctCcaagtggggagtgcttctcc	10	17	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:25266673C>G	ENST00000328086.7	-	2	1243	c.440G>C	c.(439-441)gGa>gCa	p.G147A		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	147					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCACGCTGCTCCAAGTGGGGA	0.582																																																	0													46	43	44					16																	25266673		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.440G>C	16.37:g.25266673C>G	ENSP00000331626:p.Gly147Ala		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G147A	ENST00000328086.7	37	c.440	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	6.868	0.529523	0.13127	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.13089	2.62	5.3	4.34	0.51931	Transcription regulator SCAN (1);	0.183972	0.39020	N	0.001497	T	0.11836	0.0288	L	0.48642	1.525	0.29456	N	0.858094	B;P	0.36086	0.057;0.536	B;B	0.32090	0.076;0.14	T	0.08066	-1.0740	10	0.26408	T	0.33	-7.9422	11.5549	0.50741	0.1789:0.8211:0.0:0.0	.	147;147	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	A	147	ENSP00000331626:G147A	ENSP00000331626:G147A	G	-	2	0	ZKSCAN2	25174174	0.982000	0.34865	0.345000	0.25642	0.077000	0.17291	2.372000	0.44257	1.337000	0.45525	0.555000	0.69702	GGA	ZKSCAN2	-	smart_Tscrpt_reg_SCAN		0.582	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25266673	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.954	G	G	25266673	C	G	25266673	3	3	117	1	0	0	0	0	1	0	0	0	17717	855	30	1	2487	1	ZKSCAN2	16	25266673	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	466032	25266673	65088080	1015	18483										
GTF3C1	2975	genome.wustl.edu	37	chr16	27475971	27475971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaaggaggtgcctgcccctCgggggggctgtcctcactgg	17	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:27475971C>T	ENST00000356183.4	-	34	5557	c.5542G>A	c.(5542-5544)Gag>Aag	p.E1848K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1848K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1848					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTG	0.677																																																	0													28	35	33					16																	27475971		2172	4248	6420	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5542G>A	16.37:g.27475971C>T	ENSP00000348510:p.Glu1848Lys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E1848K	ENST00000356183.4	37	c.5542	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366598	0.61513	.	.	ENSG00000077235	ENST00000356183	T	0.26957	1.7	4.89	3.94	0.45596	.	0.971962	0.08497	N	0.937089	T	0.48132	0.1483	M	0.65975	2.015	0.09310	N	1	P;D	0.89917	0.833;1.0	B;D	0.79108	0.1;0.992	T	0.22906	-1.0203	10	0.32370	T	0.25	-21.6131	10.3431	0.43891	0.0:0.9065:0.0:0.0935	.	1848;1848	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1848	ENSP00000348510:E1848K	ENSP00000348510:E1848K	E	-	1	0	GTF3C1	27383472	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.501000	0.22578	1.063000	0.40649	0.561000	0.74099	GAG	GTF3C1	-	NULL		0.677	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27475971	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.012	T	T	27475971	C	T	27475971	3	4	117	1	0	0	0	0	1	0	0	0	6892	893	31	1	803	1	GTF3C1	16	27475971	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2209298	27475971	62878782	1016	18484										
APOB48R	55911	genome.wustl.edu	37	chr16	28508263	28508263	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacgagaaaggacatggagaGaggaaatactcaggaggatg	15	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:28508263G>C	ENST00000431282.1	+	3	1884	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	APOBR_ENST00000564831.1_Missense_Mutation_p.R634T|APOBR_ENST00000328423.5_Missense_Mutation_p.R625T|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	625	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GACATGGAGAGAGGAAATACT	0.652																																																	0													12	14	13					16																	28508263		2056	4195	6251	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1874G>C	16.37:g.28508263G>C	ENSP00000416094:p.Arg625Thr		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.R634T	ENST00000431282.1	37	c.1901		16	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837520	0.32513	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.53640	0.61;0.63	4.65	3.68	0.42216	.	.	.	.	.	T	0.36026	0.0952	L	0.32530	0.975	0.09310	N	1	P;B	0.37101	0.582;0.324	B;B	0.34722	0.133;0.188	T	0.08638	-1.0712	9	0.25751	T	0.34	0.1254	12.918	0.58216	0.0:0.1646:0.8354:0.0	.	625;625	Q0VD83;Q9NS13	APOBR_HUMAN;.	T	625	ENSP00000327669:R625T;ENSP00000416094:R625T	ENSP00000327669:R625T	R	+	2	0	APOBR	28415764	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	0.167000	0.16602	1.056000	0.40484	0.537000	0.68136	AGA	APOBR	-	NULL		0.652	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28508263	1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.224	C	C	28508263	G	C	28508263	3	2	117	1	0	0	0	0	1	0	0	0	786	942	33	1	1884	1	APOB48R	16	28508263	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1032292	28508263	61846490	1017	18485										
SH2B1	25970	genome.wustl.edu	37	chr16	28878683	28878683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgactcagcatcccctgctCttctatcacagacgtccgga	7	17	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:28878683C>G	ENST00000322610.8	+	5	1410	c.971C>G	c.(970-972)tCt>tGt	p.S324C	SH2B1_ENST00000395532.4_Missense_Mutation_p.S324C|SH2B1_ENST00000545570.1_Missense_Mutation_p.S14C|SH2B1_ENST00000359285.5_Missense_Mutation_p.S324C|SH2B1_ENST00000337120.5_Missense_Mutation_p.S324C|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	324	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ATCCCCTGCTCTTCTATCACA	0.562																																																	0													204	207	206					16																	28878683		2197	4300	6497	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.971C>G	16.37:g.28878683C>G	ENSP00000321221:p.Ser324Cys		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.S324C	ENST00000322610.8	37	c.971	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531675	0.45073	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	4.45	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.308053	0.28268	N	0.015961	D	0.83266	0.5217	L	0.41356	1.27	0.40872	D	0.983922	D;B;P;P	0.89917	1.0;0.266;0.804;0.649	D;B;P;B	0.87578	0.998;0.153;0.471;0.391	D	0.84652	0.0701	10	0.49607	T	0.09	-24.2463	16.2416	0.82411	0.0:1.0:0.0:0.0	.	14;324;324;324	F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;SH2B1_HUMAN	C	324;14;324;324;324	ENSP00000321221:S324C;ENSP00000440354:S14C;ENSP00000352232:S324C;ENSP00000378903:S324C;ENSP00000337163:S324C	ENSP00000321221:S324C	S	+	2	0	SH2B1	28786184	0.989000	0.36119	0.922000	0.36590	0.872000	0.50106	2.788000	0.47806	2.185000	0.69588	0.563000	0.77884	TCT	SH2B1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.562	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	C	NM_015503		28878683	1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	0.993	G	G	28878683	C	G	28878683	3	3	117	1	0	0	0	0	1	0	0	0	14257	913	32	1	977	1	SH2B1	16	28878683	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	370420	28878683	61476070	1018	18486										
TAOK2	9344	genome.wustl.edu	37	chr16	29993184	29993184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcctgtgactttcaggtctGagtacttccggaattttgtc	9	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:29993184G>C	ENST00000308893.4	+	10	1797	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.E252Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.E252Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.E79Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TTTCAGGTCTGAGTACTTCCG	0.552																																																	0													67	67	67					16																	29993184		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.754G>C	16.37:g.29993184G>C	ENSP00000310094:p.Glu252Gln		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.E252Q	ENST00000308893.4	37	c.754	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688274	0.88639	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.86297	-2.1;-2.1;-2.1	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051208	0.85682	D	0.000000	D	0.85691	0.5755	L	0.31926	0.97	0.58432	D	0.999999	B;D;B;B;B	0.60575	0.12;0.988;0.004;0.004;0.023	B;P;B;B;B	0.48901	0.034;0.594;0.01;0.017;0.053	D	0.84052	0.0370	9	.	.	.	.	19.0726	0.93145	0.0:0.0:1.0:0.0	.	436;79;252;252;252	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	Q	252	ENSP00000310094:E252Q;ENSP00000440336:E252Q;ENSP00000279394:E252Q	.	E	+	1	0	TAOK2	29900685	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.809000	0.96659	0.555000	0.69702	GAG	TAOK2	-	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		0.552	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29993184	1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29993184	G	C	29993184	3	2	117	1	0	0	0	0	1	0	0	0	15578	1291	45	1	788	1	TAOK2	16	29993184	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1114501	29993184	60361569	1019	18487										
TAOK2	9344	genome.wustl.edu	37	chr16	29994587	29994587	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaggccctgaagcccgggaGatggccatgatgcaggaggg	18	9	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:29994587G>C	ENST00000308893.4	+	12	2237	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	TAOK2_ENST00000543033.1_Missense_Mutation_p.E398D|TAOK2_ENST00000279394.3_Missense_Mutation_p.E398D|TAOK2_ENST00000416441.2_Missense_Mutation_p.E225D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	398	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AAGCCCGGGAGATGGCCATGA	0.622																																																	0													45	40	42					16																	29994587		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1194G>C	16.37:g.29994587G>C	ENSP00000310094:p.Glu398Asp		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.E398D	ENST00000308893.4	37	c.1194	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885848	0.33348	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.29397	1.57;1.57;1.57	5.24	2.21	0.28008	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	L	0.41079	1.255	0.44619	D	0.997597	D;D;B;B;B	0.67145	0.972;0.996;0.206;0.397;0.32	P;D;B;B;B	0.76071	0.675;0.987;0.129;0.218;0.147	T	0.07712	-1.0758	9	.	.	.	.	7.7584	0.28938	0.3374:0.0:0.6626:0.0	.	589;225;398;398;398	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	D	398	ENSP00000310094:E398D;ENSP00000440336:E398D;ENSP00000279394:E398D	.	E	+	3	2	TAOK2	29902088	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	1.703000	0.37846	0.618000	0.30179	-1.012000	0.02466	GAG	TAOK2	-	NULL		0.622	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29994587	1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29994587	G	C	29994587	3	2	117	1	0	0	0	0	1	0	0	0	15578	933	33	1	1236	1	TAOK2	16	29994587	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1403	29994587	60360166	1020	18488										
ZNF646	9726	genome.wustl.edu	37	chr16	31092656	31092656	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggtgacgtccatggcggctGaggacaaggagcggcccttc	16	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31092656G>A	ENST00000394979.2	+	1	5434	c.5011G>A	c.(5011-5013)Gag>Aag	p.E1671K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1671K			O15015	ZN646_HUMAN	zinc finger protein 646	1671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATGGCGGCTGAGGACAAGGA	0.652																																																	0													68	78	75					16																	31092656		2197	4299	6496	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5011G>A	16.37:g.31092656G>A	ENSP00000378429:p.Glu1671Lys		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1671K	ENST00000394979.2	37	c.5011		16	.	.	.	.	.	.	.	.	.	.	G	8.437	0.849944	0.17034	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08458	3.09;3.11	5.8	4.66	0.58398	.	.	.	.	.	T	0.06962	0.0177	L	0.29908	0.895	0.09310	N	0.999999	B	0.21520	0.057	B	0.16289	0.015	T	0.13899	-1.0492	9	0.45353	T	0.12	-1.3315	8.284	0.31917	0.093:0.1625:0.7445:0.0	.	1671	O15015-2	.	K	1671	ENSP00000300850:E1671K;ENSP00000378429:E1671K	ENSP00000300850:E1671K	E	+	1	0	ZNF646	31000157	0.011000	0.17503	0.947000	0.38551	0.266000	0.26442	1.440000	0.35024	2.755000	0.94549	0.655000	0.94253	GAG	ZNF646	-	NULL		0.652	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31092656	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.155	A	A	31092656	G	A	31092656	3	1	117	1	0	0	0	0	1	0	0	0	18092	1291	45	1	5013	1	ZNF646	16	31092656	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1098069	31092656	59262097	1021	18489										
PRSS53	339105	genome.wustl.edu	37	chr16	31098175	31098175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgagtccctcacgctgcagaGaacccaggaccactgaccag	10	15	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31098175G>A	ENST00000280606.6	-	4	440	c.287C>T	c.(286-288)tCt>tTt	p.S96F		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	96	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						ACGCTGCAGAGAACCCAGGAC	0.617																																																	0													42	44	44					16																	31098175		2068	4216	6284	SO:0001583	missense	339105				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.287C>T	16.37:g.31098175G>A	ENSP00000280606:p.Ser96Phe			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S96F	ENST00000280606.6	37	c.287	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142577	0.57044	.	.	ENSG00000151006	ENST00000280606	D	0.89343	-2.5	5.75	5.75	0.90469	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36200	U	0.002726	D	0.93409	0.7898	M	0.71296	2.17	0.47949	D	0.999551	D	0.76494	0.999	D	0.83275	0.996	D	0.93184	0.6577	10	0.56958	D	0.05	.	13.1084	0.59259	0.0:0.1607:0.8393:0.0	.	96	Q2L4Q9	PRS53_HUMAN	F	96	ENSP00000280606:S96F	ENSP00000280606:S96F	S	-	2	0	PRSS53	31005676	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	3.044000	0.49830	2.720000	0.93068	0.655000	0.94253	TCT	PRSS53	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.617	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	HGNC	protein_coding	OTTHUMT00000108580.4	G	NM_001081268		31098175	-1	no_errors	ENST00000280606	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31098175	G	A	31098175	3	1	117	1	0	0	0	0	1	0	0	0	12659	942	33	1	1406	1	PRSS53	16	31098175	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5519	31098175	59256578	1022	18490										
ZNF267	10308	genome.wustl.edu	37	chr16	31926081	31926081	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatataggaaggtctttactCattcatcattgcttaatcaa	5	7	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31926081C>T	ENST00000300870.10	+	4	720	c.511C>T	c.(511-513)Cat>Tat	p.H171Y		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	171					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGTCTTTACTCATTCATCATT	0.323																																																	0													52	53	53					16																	31926081		2197	4300	6497	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.511C>T	16.37:g.31926081C>T	ENSP00000300870:p.His171Tyr		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H171Y	ENST00000300870.10	37	c.511	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	1.495	-0.553639	0.03996	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06142	3.34	0.681	-0.41	0.12374	.	.	.	.	.	T	0.02848	0.0085	L	0.34521	1.04	0.09310	N	1	P	0.35139	0.486	B	0.19946	0.027	T	0.39333	-0.9619	9	0.02654	T	1	.	4.8374	0.13471	0.0:0.7297:0.0:0.2703	.	171	Q14586	ZN267_HUMAN	Y	171;138	ENSP00000300870:H171Y	ENSP00000300870:H171Y	H	+	1	0	ZNF267	31833582	0.000000	0.05858	0.006000	0.13384	0.031000	0.12232	-2.777000	0.00775	-0.157000	0.11059	0.484000	0.47621	CAT	ZNF267	-	NULL		0.323	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	C	NM_003414		31926081	1	no_errors	ENST00000300870	ensembl	human	known	70_37	missense	SNP	0.001	T	T	31926081	C	T	31926081	3	4	117	1	0	0	0	0	1	0	0	0	17836	826	29	1	525	1	ZNF267	16	31926081	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	827906	31926081	58428672	1023	18491										
ZNF267	10308	genome.wustl.edu	37	chr16	31926596	31926596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caccttactcaacatcagatCattcctaccgaagagaaacc	4	14	3	2	rs141138368		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31926596C>T	ENST00000300870.10	+	4	1235	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	342					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I342I(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AACATCAGATCATTCCTACCG	0.358																																																	1	Substitution - coding silent(1)	skin(1)											116	120	119					16																	31926596		2197	4300	6497	SO:0001819	synonymous_variant	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1026C>T	16.37:g.31926596C>T			A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I342	ENST00000300870.10	37	c.1026	CCDS32440.1	16																																																																																			ZNF267	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	C	NM_003414		31926596	1	no_errors	ENST00000300870	ensembl	human	known	70_37	silent	SNP	0.112	T	T	31926596	C	T	31926596	2	4	117	1	0	0	0	0	0	0	0	1	17836	816	29	1		1	ZNF267	16	31926596	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	515	31926596	58428157	1024	18492										
ZNF423	23090	genome.wustl.edu	37	chr16	49670174	49670174	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagggaagcgctcaccacaGatgggacacatgtagtgctt	13	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:49670174G>C	ENST00000561648.1	-	4	2942	c.2889C>G	c.(2887-2889)atC>atG	p.I963M	ZNF423_ENST00000535559.1_Missense_Mutation_p.I846M|ZNF423_ENST00000262383.2_Missense_Mutation_p.I963M|ZNF423_ENST00000562871.1_Missense_Mutation_p.I903M|ZNF423_ENST00000563137.2_Missense_Mutation_p.I903M|ZNF423_ENST00000562520.1_Missense_Mutation_p.I903M|ZNF423_ENST00000567169.1_Missense_Mutation_p.I846M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	963					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCACCACAGATGGGACACA	0.602																																																	0													68	52	57					16																	49670174		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2889C>G	16.37:g.49670174G>C	ENSP00000455426:p.Ile963Met		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I963M	ENST00000561648.1	37	c.2889	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189886	0.38707	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.18810	2.19;2.19	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	M	0.63169	1.94	0.36263	D	0.854694	D	0.89917	1.0	D	0.91635	0.999	T	0.45731	-0.9241	9	.	.	.	-27.8772	8.8598	0.35249	0.1665:0.0:0.8335:0.0	.	963	Q2M1K9	ZN423_HUMAN	M	963;846	ENSP00000262383:I963M;ENSP00000442321:I846M	.	I	-	3	3	ZNF423	48227675	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.416000	0.52707	2.234000	0.73211	0.561000	0.74099	ATC	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	G	NM_015069		49670174	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49670174	G	C	49670174	3	2	117	1	0	0	0	0	1	0	0	0	17928	932	33	1	985	1	ZNF423	16	49670174	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	17743578	49670174	40684579	1025	18493										
TOX3	27324	genome.wustl.edu	37	chr16	52498040	52498040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcagggtctgactctggagGaggcgtgattggtggaattt	18	5	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:52498040G>A	ENST00000219746.9	-	3	498	c.214C>T	c.(214-216)Cct>Tct	p.P72S	TOX3_ENST00000407228.3_Missense_Mutation_p.P67S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	72					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GACTCTGGAGGAGGCGTGATT	0.502																																																	0													133	148	143					16																	52498040		2082	4207	6289	SO:0001583	missense	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.214C>T	16.37:g.52498040G>A	ENSP00000219746:p.Pro72Ser		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P72S	ENST00000219746.9	37	c.214	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223721	0.79576	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.13657	2.62;2.57	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69307	0.963;0.941	T	0.16689	-1.0394	10	0.72032	D	0.01	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	67;72	B4DRD0;O15405	.;TOX3_HUMAN	S	72;67	ENSP00000219746:P72S;ENSP00000385705:P67S	ENSP00000219746:P72S	P	-	1	0	TOX3	51055541	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	CCT	TOX3	-	NULL		0.502	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	G	XM_049037		52498040	-1	no_errors	ENST00000219746	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52498040	G	A	52498040	3	1	117	1	0	0	0	0	1	0	0	0	16410	1174	41	1	1536	1	TOX3	16	52498040	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2827866	52498040	37856713	1026	18494										
NLRC5	84166	genome.wustl.edu	37	chr16	57059957	57059957	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtccacatgttgggctttGatgggccacgggtggaagaa	16	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:57059957G>C	ENST00000262510.6	+	6	1327	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	NLRC5_ENST00000539144.1_Missense_Mutation_p.D368H|NLRC5_ENST00000436936.1_Missense_Mutation_p.D368H|NLRC5_ENST00000308149.7_Missense_Mutation_p.D368H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	368	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTGGGCTTTGATGGGCCACG	0.622																																																	0													59	64	62					16																	57059957		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1102G>C	16.37:g.57059957G>C	ENSP00000262510:p.Asp368His		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.D368H	ENST00000262510.6	37	c.1102	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.025714|2.025714	0.35701|0.35701	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	D;D;D;D|.	0.82081|.	-1.57;-1.57;-1.57;-1.57|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.36134|.	N|.	0.002777|.	T|.	0.69833|.	0.3155|.	M|M	0.79475|0.79475	2.455|2.455	0.34408|0.34408	D|D	0.696062|0.696062	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.87578|.	0.997;0.998;0.994;0.989|.	T|.	0.78848|.	-0.2042|.	10|.	0.66056|.	D|.	0.02|.	.|.	11.7585|11.7585	0.51888|0.51888	0.0802:0.0:0.9198:0.0|0.0802:0.0:0.9198:0.0	.|.	368;368;368;368|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	H|S	368|120	ENSP00000262510:D368H;ENSP00000308886:D368H;ENSP00000389739:D368H;ENSP00000441727:D368H|.	ENSP00000262510:D368H|.	D|X	+|+	1|2	0|2	NLRC5|NLRC5	55617458|55617458	1.000000|1.000000	0.71417|0.71417	0.605000|0.605000	0.28930|0.28930	0.033000|0.033000	0.12548|0.12548	5.106000|5.106000	0.64597|0.64597	2.578000|2.578000	0.87016|0.87016	0.561000|0.561000	0.74099|0.74099	GAT|TGA	NLRC5	-	NULL		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	G	NM_032206		57059957	1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.952	C	C	57059957	G	C	57059957	3	2	117	1	0	0	0	0	1	0	0	0	10494	1290	45	1	1116	1	NLRC5	16	57059957	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4561917	57059957	33294796	1027	18495										
CNGB1	1258	genome.wustl.edu	37	chr16	57973451	57973451	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcctcctccttggccttctCttcagcctccttcttggcct	7	18	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:57973451C>G	ENST00000251102.8	-	16	1315	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	CNGB1_ENST00000564448.1_Missense_Mutation_p.E413Q|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	419					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ttggccttctcttcagcctcc	0.592																																					Colon(156;1293 1853 16336 28962 38659)												0													96	103	101					16																	57973451		1979	4161	6140	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1255G>C	16.37:g.57973451C>G	ENSP00000251102:p.Glu419Gln		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E419Q	ENST00000251102.8	37	c.1255	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	0.610	-0.825486	0.02734	.	.	ENSG00000070729	ENST00000251102	T	0.30714	1.52	1.25	-2.49	0.06403	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	0.999998	B	0.28026	0.198	B	0.12837	0.008	T	0.21177	-1.0253	9	0.20519	T	0.43	.	0.534	0.00633	0.2343:0.3402:0.233:0.1925	.	419	Q14028	CNGB1_HUMAN	Q	419	ENSP00000251102:E419Q	ENSP00000251102:E419Q	E	-	1	0	CNGB1	56530952	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.055000	0.03493	-1.285000	0.02387	-0.309000	0.09137	GAG	CNGB1	-	NULL		0.592	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57973451	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	0.000	G	G	57973451	C	G	57973451	3	3	117	1	0	0	0	0	1	0	0	0	3605	922	32	1	2572	1	CNGB1	16	57973451	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	913494	57973451	32381302	1028	18496										
LRRC36	55282	genome.wustl.edu	37	chr16	67410677	67410677	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtagtcccggctccttctCagccgaggtgttgctcacat	11	13	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:67410677C>T	ENST00000329956.6	+	11	1727	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Nonsense_Mutation_p.Q449*|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	570										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGCTCCTTCTCAGCCGAGGTG	0.527																																																	0													197	179	185					16																	67410677		2198	4300	6498	SO:0001587	stop_gained	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1708C>T	16.37:g.67410677C>T	ENSP00000329943:p.Gln570*		A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Nonsense_Mutation	SNP	NULL	p.Q570*	ENST00000329956.6	37	c.1708	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.244662	0.95272	.	.	ENSG00000159708	ENST00000329956	.	.	.	5.52	3.55	0.40652	.	0.262866	0.39475	N	0.001344	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.525	8.3245	0.32149	0.0:0.8449:0.0:0.1551	.	.	.	.	X	570	.	ENSP00000329943:Q570X	Q	+	1	0	LRRC36	65968178	0.958000	0.32768	1.000000	0.80357	0.944000	0.59088	1.523000	0.35932	2.598000	0.87819	0.655000	0.94253	CAG	LRRC36	-	NULL		0.527	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	C	NM_018296		67410677	1	no_errors	ENST00000329956	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67410677	C	T	67410677	4	4	117	1	0	0	0	0	0	1	0	0	9013	827	29	1	1778	1	LRRC36	16	67410677	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9437226	67410677	22944076	1029	18497										
RANBP10	57610	genome.wustl.edu	37	chr16	67805964	67805964	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctgttcatgttgacgccttGagccgagagtcctattccca	9	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:67805964G>C	ENST00000317506.3	-	3	488	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000411657.2_Missense_Mutation_p.Q8E|RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.Q125E|RANBP10_ENST00000448631.2_Missense_Mutation_p.Q125E	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TTGACGCCTTGAGCCGAGAGT	0.398																																																	0													150	142	145					16																	67805964		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.373C>G	16.37:g.67805964G>C	ENSP00000316589:p.Gln125Glu		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Q125E	ENST00000317506.3	37	c.373	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025451	0.54683	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000411657	T;T;T	0.66638	-0.22;0.37;-0.22	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.057233	0.64402	D	0.000001	T	0.62011	0.2393	N	0.05230	-0.09	0.80722	D	1	B;B;D;B	0.54207	0.026;0.447;0.965;0.082	B;B;P;B	0.61201	0.036;0.222;0.885;0.081	T	0.63791	-0.6557	10	0.30854	T	0.27	-13.2928	15.7681	0.78143	0.0:0.0:1.0:0.0	.	125;8;125;125	B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;RBP10_HUMAN	E	125;125;8	ENSP00000316589:Q125E;ENSP00000392808:Q125E;ENSP00000416460:Q8E	ENSP00000316589:Q125E	Q	-	1	0	RANBP10	66363465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.829000	0.75314	2.791000	0.96007	0.655000	0.94253	CAA	RANBP10	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.398	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	G	NM_020850		67805964	-1	no_errors	ENST00000317506	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67805964	G	C	67805964	3	2	117	1	0	0	0	0	1	0	0	0	13056	1299	45	1	1537	1	RANBP10	16	67805964	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	395287	67805964	22548789	1030	18498										
DDX19B	11269	genome.wustl.edu	37	chr16	70363314	70363314	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaaggtgtttgttctggatGaggctgatgtcatgatagcc	13	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:70363314G>A	ENST00000288071.6	+	8	972	c.727G>A	c.(727-729)Gag>Aag	p.E243K	DDX19B_ENST00000355992.3_Missense_Mutation_p.E212K|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Missense_Mutation_p.E134K|DDX19B_ENST00000568625.1_Missense_Mutation_p.E134K|DDX19B_ENST00000563206.1_Missense_Mutation_p.E248K|DDX19B_ENST00000451014.3_Missense_Mutation_p.E217K|DDX19B_ENST00000563392.1_Missense_Mutation_p.E134K|RP11-529K1.3_ENST00000567706.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	243	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGTTCTGGATGAGGCTGATGT	0.532																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0													72	65	67					16																	70363314		2198	4297	6495	SO:0001583	missense	11269			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.727G>A	16.37:g.70363314G>A	ENSP00000288071:p.Glu243Lys		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E243K	ENST00000288071.6	37	c.727	CCDS10888.1	16	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818980	0.90873	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.82	3.85	0.44370	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	0.998;0.971;1.0	D;P;D	0.81914	0.995;0.572;0.995	T	0.83062	-0.0147	10	0.87932	D	0	-12.2791	12.049	0.53495	0.0:0.0:0.8261:0.1739	.	217;212;243	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	K	217;212;134;243	ENSP00000392639:E217K;ENSP00000348271:E212K;ENSP00000377267:E134K;ENSP00000288071:E243K	ENSP00000288071:E243K	E	+	1	0	DDX19B	68920815	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	9.078000	0.94023	1.238000	0.43771	0.609000	0.83330	GAG	DDX19B	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.532	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3	G	NM_007242		70363314	1	no_errors	ENST00000288071	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70363314	G	A	70363314	3	1	117	1	0	0	0	0	1	0	0	0	4352	1291	45	1	757	1	DDX19B	16	70363314	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2557350	70363314	19991439	1031	18499										
HYDIN	54768	genome.wustl.edu	37	chr16	71004492	71004492	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atggggaagttgcagggattCttcactatcacctcggcctc	11	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:71004492C>T	ENST00000393567.2	-	36	5700	c.5550G>A	c.(5548-5550)aaG>aaA	p.K1850K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1850					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCAGGGATTCTTCACTATCA	0.473																																																	0													32	30	31					16																	71004492		1799	4030	5829	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5550G>A	16.37:g.71004492C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.K1849	ENST00000393567.2	37	c.5547	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71004492	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71004492	C	T	71004492	2	4	117	1	0	0	0	0	0	0	0	1	7487	912	32	1		1	HYDIN	16	71004492	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	641178	71004492	19350261	1032	18500										
ZFHX3	463	genome.wustl.edu	37	chr16	72992795	72992795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagaggccccagggggactGaggtaatgggggtcttcagt	17	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:72992795G>A	ENST00000268489.5	-	2	1922	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	417					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGGGGACTGAGGTAATGGG	0.647																																																	0													63	77	72					16																	72992795		2195	4290	6485	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1250C>T	16.37:g.72992795G>A	ENSP00000268489:p.Ser417Leu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S417L	ENST00000268489.5	37	c.1250	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087862	0.20390	.	.	ENSG00000140836	ENST00000268489	T	0.76968	-1.06	4.92	3.95	0.45737	.	0.000000	0.40144	N	0.001176	T	0.78266	0.4256	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.80828	-0.1208	10	0.59425	D	0.04	.	15.6523	0.77108	0.0:0.1376:0.8624:0.0	.	417	Q15911	ZFHX3_HUMAN	L	417	ENSP00000268489:S417L	ENSP00000268489:S417L	S	-	2	0	ZFHX3	71550296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	1.177000	0.42855	0.591000	0.81541	TCA	ZFHX3	-	NULL		0.647	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72992795	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72992795	G	A	72992795	3	1	117	1	0	0	0	0	1	0	0	0	17664	1294	45	1	9897	1	ZFHX3	16	72992795	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1988303	72992795	17361958	1033	18501										
WDR59	79726	genome.wustl.edu	37	chr16	74919569	74919569	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	accgatccctttgtgagggtCaggaggacaggagacaaact	13	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:74919569C>T	ENST00000262144.6	-	25	2801	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	891										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAGGGTCAGGAGGACAG	0.443																																																	0													113	104	107					16																	74919569		2198	4300	6498	SO:0001583	missense	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2671G>A	16.37:g.74919569C>T	ENSP00000262144:p.Asp891Asn		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D891N	ENST00000262144.6	37	c.2671	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934304	0.73442	.	.	ENSG00000103091	ENST00000262144	T	0.69306	-0.39	5.36	5.36	0.76844	.	0.051859	0.85682	D	0.000000	T	0.63474	0.2514	L	0.52126	1.63	0.58432	D	0.999999	B;P	0.37330	0.319;0.59	B;B	0.36378	0.111;0.223	T	0.62723	-0.6794	10	0.33141	T	0.24	-22.5571	19.0883	0.93215	0.0:1.0:0.0:0.0	.	891;336	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	N	891	ENSP00000262144:D891N	ENSP00000262144:D891N	D	-	1	0	WDR59	73477070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.800000	0.85949	2.500000	0.84329	0.561000	0.74099	GAC	WDR59	-	NULL		0.443	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	C	NM_030581		74919569	-1	no_errors	ENST00000262144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74919569	C	T	74919569	3	4	117	1	0	0	0	0	1	0	0	0	17339	826	29	1	261	1	WDR59	16	74919569	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1926774	74919569	15435184	1034	18502										
CMIP	80790	genome.wustl.edu	37	chr16	81479049	81479049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtctgtgtcatccggcaccCgcggacctttctcagcaaga	11	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:81479049C>T	ENST00000537098.3	+	1	275	c.203C>T	c.(202-204)cCg>cTg	p.P68L		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	68	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						ATCCGGCACCCGCGGACCTTT	0.637																																																	0													26	32	30					16																	81479049		2027	4188	6215	SO:0001583	missense	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.203C>T	16.37:g.81479049C>T	ENSP00000446100:p.Pro68Leu		Q9C0G9	Missense_Mutation	SNP	NULL	p.P68L	ENST00000537098.3	37	c.203	CCDS54044.1	16	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809799	0.50421	.	.	ENSG00000153815	ENST00000537098	T	0.47869	0.83	2.72	2.72	0.32119	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.33792	U	0.004558	T	0.30293	0.0760	N	0.14661	0.345	0.80722	D	1	B	0.20261	0.043	B	0.12837	0.008	T	0.10894	-1.0610	10	0.39692	T	0.17	.	13.6975	0.62589	0.0:1.0:0.0:0.0	.	68	Q8IY22	CMIP_HUMAN	L	68	ENSP00000446100:P68L	ENSP00000446100:P68L	P	+	2	0	CMIP	80036550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.795000	0.62489	1.207000	0.43291	0.306000	0.20318	CCG	CMIP	-	NULL		0.637	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	C	NM_030629		81479049	1	no_errors	ENST00000537098	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81479049	C	T	81479049	3	4	117	1	0	0	0	0	1	0	0	0	3583	652	23	2	205	2	CMIP	16	81479049	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6559480	81479049	8875704	1035	18503										
KLHL36	79786	genome.wustl.edu	37	chr16	84690989	84690989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagaacgtctccatgcagaaGctgtgtgtctacctgagcag	11	11	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:84690989G>C	ENST00000564996.1	+	3	717	c.576G>C	c.(574-576)aaG>aaC	p.K192N	KLHL36_ENST00000258157.5_Missense_Mutation_p.K192N	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	192	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCATGCAGAAGCTGTGTGTCT	0.627																																																	0													48	39	42					16																	84690989		2199	4300	6499	SO:0001583	missense	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.576G>C	16.37:g.84690989G>C	ENSP00000456743:p.Lys192Asn		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K192N	ENST00000564996.1	37	c.576	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456576	0.63401	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69561	-0.41	5.42	3.44	0.39384	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.62016	1.91	0.58432	D	0.999999	D;D	0.76494	0.999;0.987	D;D	0.74023	0.982;0.91	T	0.78841	-0.2045	10	0.72032	D	0.01	.	11.5266	0.50584	0.1479:0.0:0.8521:0.0	.	192;192	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	N	192	ENSP00000258157:K192N	ENSP00000258157:K192N	K	+	3	2	KLHL36	83248490	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.988000	0.56951	1.264000	0.44198	0.563000	0.77884	AAG	KLHL36	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.627	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	G			84690989	1	no_errors	ENST00000564996	ensembl	human	known	70_37	missense	SNP	1.000	C	C	84690989	G	C	84690989	3	2	117	1	0	0	0	0	1	0	0	0	8409	962	34	4	582	4	KLHL36	16	84690989	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3211940	84690989	5663764	1036	18504										
KIAA0513	9764	genome.wustl.edu	37	chr16	85106603	85106603	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttttgcagtggtgctgttcGagtaagtaatgccgtggcac	13	8	0	0	rs564854975		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:85106603G>C	ENST00000566428.1	+	4	1133	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	KIAA0513_ENST00000538274.1_Splice_Site_p.E168Q|KIAA0513_ENST00000258180.3_Splice_Site_p.E168Q|KIAA0513_ENST00000567328.1_Splice_Site_p.E168Q			O60268	K0513_HUMAN	KIAA0513	168						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGTGCTGTTCGAGTAAGTAAT	0.557																																																	0													194	148	164					16																	85106603		2199	4300	6499	SO:0001630	splice_region_variant	9764			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.503+1G>C	16.37:g.85106603G>C			B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.E168Q	ENST00000566428.1	37	c.502	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489440	0.84962	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35973	1.28;1.28	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.67333	-0.5697	10	0.87932	D	0	-22.7646	17.7828	0.88529	0.0:0.0:1.0:0.0	.	168;168	B4DSS5;O60268	.;K0513_HUMAN	Q	168	ENSP00000446439:E168Q;ENSP00000258180:E168Q	ENSP00000258180:E168Q	E	+	1	0	KIAA0513	83664104	1.000000	0.71417	0.976000	0.42696	0.689000	0.40095	8.940000	0.92958	2.534000	0.85438	0.555000	0.69702	GAG	KIAA0513	-	NULL		0.557	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	G	NM_014732	Missense_Mutation	85106603	1	no_errors	ENST00000258180	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85106603	G	C	85106603	5	2	117	1	0	0	0	0	0	0	1	0	8201	1072	37	1	512	1	KIAA0513	16	85106603	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	415614	85106603	5248150	1037	18505										
C16orf74	404550	genome.wustl.edu	37	chr16	85743872	85743872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcgttcaggacgggggcctCgtcgtggctgctgctgctgc	17	12	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:85743872C>T	ENST00000284245.4	-	3	253	c.70G>A	c.(70-72)Gag>Aag	p.E24K	C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602583.1_Missense_Mutation_p.E12K|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_Missense_Mutation_p.E24K	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	24																	ACGGGGGCCTCGTCGTGGCTG	0.627																																																	0													11	15	14					16																	85743872		2147	4244	6391	SO:0001583	missense	404550			BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.70G>A	16.37:g.85743872C>T	ENSP00000284245:p.Glu24Lys			Missense_Mutation	SNP	NULL	p.E24K	ENST00000284245.4	37	c.70	CCDS45540.1	16	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303830	0.81136	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.85	3.87	0.44632	.	0.113269	0.39210	N	0.001435	T	0.55970	0.1954	.	.	.	0.31727	N	0.637595	D	0.71674	0.998	P	0.54706	0.759	T	0.65487	-0.6156	8	0.59425	D	0.04	-27.7897	10.9487	0.47317	0.0:0.8098:0.1902:0.0	.	24	Q96GX8	CP074_HUMAN	K	24	.	ENSP00000284245:E24K	E	-	1	0	C16orf74	84301373	0.947000	0.32204	0.981000	0.43875	0.926000	0.56050	1.995000	0.40767	0.993000	0.38866	0.561000	0.74099	GAG	C16orf74	-	NULL		0.627	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf74	HGNC	protein_coding	OTTHUMT00000467253.1	C	NM_206967		85743872	-1	no_errors	ENST00000284245	ensembl	human	known	70_37	missense	SNP	0.972	T	T	85743872	C	T	85743872	3	4	117	1	0	0	0	0	1	0	0	0	1837	893	31	1	168	1	C16orf74	16	85743872	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	637269	85743872	4610881	1038	18506										
FANCA	2175	genome.wustl.edu	37	chr16	89849303	89849303	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgatgacaaatcctcgtaGagtcccatgttttctataga	8	9	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:89849303G>C	ENST00000389301.3	-	17	1620	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	FANCA_ENST00000568369.1_Silent_p.L530L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	530					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AATCCTCGTAGAGTCCCATGT	0.498			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													73	69	70					16																	89849303		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1590C>G	16.37:g.89849303G>C			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	pfam_Fanconia,prints_Fanconia	p.L530	ENST00000389301.3	37	c.1590	CCDS32515.1	16																																																																																			FANCA	-	NULL		0.498	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	G			89849303	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	silent	SNP	0.851	C	C	89849303	G	C	89849303	2	2	117	1	0	0	0	0	0	0	0	1	5680	929	33	1		1	FANCA	16	89849303	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4105431	89849303	505450	1039	18507										
ANKFY1	51479	genome.wustl.edu	37	chr17	4120286	4120286	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgtgacttgcctctccctGaggagctgtagctgaaaccg	12	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:4120286G>A	ENST00000341657.4	-	4	485	c.450C>T	c.(448-450)ctC>ctT	p.L150L	ANKFY1_ENST00000433651.1_Silent_p.L150L|ANKFY1_ENST00000574367.1_Silent_p.L150L|ANKFY1_ENST00000570535.1_Silent_p.L192L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	150					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCCTCTCCCTGAGGAGCTGTA	0.468																																																	0													90	83	85					17																	4120286		1959	4152	6111	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.450C>T	17.37:g.4120286G>A			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.L192	ENST00000341657.4	37	c.576		17																																																																																			ANKFY1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.468	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	G	NM_016376		4120286	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	silent	SNP	0.886	A	A	4120286	G	A	4120286	2	1	117	1	0	0	0	0	0	0	0	1	626	1277	45	1		1	ANKFY1	17	4120286	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		4120286	77074924	1040	18508										
NUP88	4927	genome.wustl.edu	37	chr17	5290743	5290743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgtttttctttagcttcctCatatttgtcagctaaacgct	5	9	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:5290743C>T	ENST00000573584.1	-	14	2388	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	627					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTAGCTTCCTCATATTTGTCA	0.408																																																	0													206	183	191					17																	5290743		2203	4300	6503	SO:0001583	missense	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1879G>A	17.37:g.5290743C>T	ENSP00000458954:p.Glu627Lys		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.E627K	ENST00000573584.1	37	c.1879	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.211511	0.95069	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.83275	0.832;0.996	T	0.76860	-0.2803	9	0.35671	T	0.21	-18.7098	17.3312	0.87264	0.0:1.0:0.0:0.0	.	512;627	B4DP20;Q99567	.;NUP88_HUMAN	K	627;512	.	ENSP00000225696:E627K	E	-	1	0	NUP88	5231467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.710000	0.74670	2.656000	0.90262	0.650000	0.86243	GAG	NUP88	-	pfam_Nucleoporin_Nup88		0.408	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	C	NM_002532		5290743	-1	no_errors	ENST00000573584	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5290743	C	T	5290743	3	4	117	1	0	0	0	0	1	0	0	0	10795	835	29	1	362	1	NUP88	17	5290743	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1170457	5290743	75904467	1041	18509										
NUP88	4927	genome.wustl.edu	37	chr17	5322971	5322971	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtccctcggcggccgccatCttggcccaactgctcccctc	10	20	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:5322971C>G	ENST00000573584.1	-	0	509				RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000381209.3_5'UTR|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGGCCGCCATCTTGGCCCAAC	0.657																																																	0													28	31	30					17																	5322971		2201	4298	6499	SO:0001623	5_prime_UTR_variant	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.-1G>C	17.37:g.5322971C>G			D3DTM2|Q9BWE5	RNA	SNP	-	NULL	ENST00000573584.1	37	NULL	CCDS11070.1	17																																																																																			NUP88	-	-		0.657	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	C	NM_002532		5322971	-1	no_errors	ENST00000572019	ensembl	human	known	70_37	rna	SNP	1.000	G	G	5322971	C	G	5322971	1	3	117	0	1	0	0	0	0	0	0	0	10795	928	32	1		1	NUP88	17	5322971	5'UTR	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	32228	5322971	75872239	1042	18510										
NLRP1	22861	genome.wustl.edu	37	chr17	5424242	5424242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgaaccagacccagacaCagtgtaacgacagcccatat	7	15	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:5424242C>A	ENST00000572272.1	-	14	3873	c.3874G>T	c.(3874-3876)Gtg>Ttg	p.V1292L	NLRP1_ENST00000262467.5_Missense_Mutation_p.V1296L|NLRP1_ENST00000354411.3_Missense_Mutation_p.V1262L|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000577119.1_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1292					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GACCCAGACACAGTGTAACGA	0.507																																																	0													83	71	75					17																	5424242		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3874G>T	17.37:g.5424242C>A	ENSP00000460475:p.Val1292Leu		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.V1292L	ENST00000572272.1	37	c.3874	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351508	0.61183	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T;T	0.20463	2.07;2.07;2.22;2.07	4.59	2.55	0.30701	.	0.232969	0.22055	N	0.065255	T	0.43411	0.1246	M	0.83483	2.645	0.21184	N	0.999767	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.988;0.993;0.981	T	0.19451	-1.0305	10	0.87932	D	0	.	6.3406	0.21321	0.0:0.7134:0.1861:0.1004	.	1262;1292;1296	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	L	1296;1296;1292;1262	ENSP00000442029:V1296L;ENSP00000262467:V1296L;ENSP00000269280:V1292L;ENSP00000346390:V1262L	ENSP00000262467:V1296L	V	-	1	0	NLRP1	5364966	0.534000	0.26362	0.011000	0.14972	0.199000	0.23934	0.690000	0.25451	0.650000	0.30769	0.644000	0.83932	GTG	NLRP1	-	NULL		0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5424242	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.021	A	A	5424242	C	A	5424242	3	1	117	1	0	0	0	0	1	0	0	0	10495	478	17	4	626	4	NLRP1	17	5424242	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	101271	5424242	75770968	1043	18511										
SLC13A5	284111	genome.wustl.edu	37	chr17	6589534	6589534	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgtggctcttcctaagtctCaatatgtgtcacattagccc	7	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6589534C>G	ENST00000433363.2	-	12	1932	c.1699G>C	c.(1699-1701)Gag>Cag	p.E567Q	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E550Q|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E524Q|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E521Q	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	567					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCCTAAGTCTCAATATGTGTC	0.493																																																	0													218	195	203					17																	6589534		2203	4300	6503	SO:0001583	missense	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1699G>C	17.37:g.6589534C>G	ENSP00000406220:p.Glu567Gln		B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.E567Q	ENST00000433363.2	37	c.1699	CCDS11079.1	17	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107610	0.56291	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T	0.04970	3.52	5.05	-1.67	0.08238	.	1.168100	0.06087	N	0.662923	T	0.02494	0.0076	N	0.03608	-0.345	0.09310	N	1	B;P;B;B	0.37276	0.309;0.589;0.201;0.242	B;B;B;B	0.33960	0.039;0.173;0.039;0.054	T	0.42515	-0.9447	10	0.23302	T	0.38	.	5.5522	0.17097	0.0:0.4205:0.1417:0.4378	.	521;524;550;567	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	Q	567;521;524	ENSP00000370464:E524Q	ENSP00000293800:E567Q	E	-	1	0	SLC13A5	6530258	0.000000	0.05858	0.083000	0.20561	0.787000	0.44495	-0.349000	0.07731	0.079000	0.16929	0.655000	0.94253	GAG	SLC13A5	-	NULL		0.493	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	HGNC	protein_coding	OTTHUMT00000219853.2	C	NM_177550		6589534	-1	no_errors	ENST00000433363	ensembl	human	known	70_37	missense	SNP	0.001	G	G	6589534	C	G	6589534	3	3	117	1	0	0	0	0	1	0	0	0	14425	835	29	1	11	1	SLC13A5	17	6589534	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1165292	6589534	74605676	1044	18512										
ALOX12	239	genome.wustl.edu	37	chr17	6902050	6902050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctagctgggccacctggaagGaagggttacccctgaccatc	12	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6902050G>A	ENST00000251535.6	+	4	489	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	146	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CACCTGGAAGGAAGGGTTACC	0.562																																																	0													63	53	56					17																	6902050		2203	4300	6503	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.436G>A	17.37:g.6902050G>A	ENSP00000251535:p.Glu146Lys		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.E146K	ENST00000251535.6	37	c.436	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499335	0.44455	.	.	ENSG00000108839	ENST00000251535	T	0.06142	3.34	5.04	1.87	0.25490	Lipoxygenase, C-terminal (2);	0.719415	0.13797	N	0.362062	T	0.04318	0.0119	N	0.20685	0.6	0.33469	D	0.586003	B	0.10296	0.003	B	0.10450	0.005	T	0.16512	-1.0400	10	0.40728	T	0.16	-12.9695	6.8212	0.23859	0.0931:0.345:0.562:0.0	.	146	P18054	LOX12_HUMAN	K	146	ENSP00000251535:E146K	ENSP00000251535:E146K	E	+	1	0	ALOX12	6842774	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	0.423000	0.21313	0.775000	0.33450	0.544000	0.68410	GAA	ALOX12	-	superfamily_LipOase_C,prints_LipOase_mml		0.562	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	G			6902050	1	no_errors	ENST00000251535	ensembl	human	known	70_37	missense	SNP	0.997	A	A	6902050	G	A	6902050	3	1	117	1	0	0	0	0	1	0	0	0	536	1175	41	1	450	1	ALOX12	17	6902050	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	312516	6902050	74293160	1045	18513										
SLC16A13	201232	genome.wustl.edu	37	chr17	6940071	6940071	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtaggcagtgccctgagcacGaagttcgggcccaggcccgt	15	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6940071G>A	ENST00000308027.6	+	2	533	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	75						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCCTGAGCACGAAGTTCGGGC	0.642																																																	0													104	104	104					17																	6940071		2203	4300	6503	SO:0001819	synonymous_variant	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.225G>A	17.37:g.6940071G>A			A3KMG3|A5PKU5|Q2VP92	Silent	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T75	ENST00000308027.6	37	c.225	CCDS11085.1	17																																																																																			SLC16A13	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	G			6940071	1	no_errors	ENST00000308027	ensembl	human	known	70_37	silent	SNP	0.903	A	A	6940071	G	A	6940071	2	1	117	1	0	0	0	0	0	0	0	1	14436	1045	37	1		1	SLC16A13	17	6940071	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	38021	6940071	74255139	1046	18514										
SLC16A11	162515	genome.wustl.edu	37	chr17	6945690	6945690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtatccccccaggccccggtCtaaagcgtggggagccaagt	13	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6945690C>G	ENST00000308009.1	-	3	1148	c.811G>C	c.(811-813)Gac>Cac	p.D271H	SLC16A11_ENST00000447225.1_Missense_Mutation_p.D247H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	271					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGGCCCCGGTCTAAAGCGTGG	0.667																																																	0													18	14	16					17																	6945690		2168	4280	6448	SO:0001583	missense	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.811G>C	17.37:g.6945690C>G	ENSP00000310490:p.Asp271His			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D271H	ENST00000308009.1	37	c.811	CCDS11086.1	17	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697407	0.68386	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.60299	0.2;0.2	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.422888	0.26532	N	0.023854	T	0.48750	0.1517	L	0.28054	0.825	0.43613	D	0.995985	P	0.44195	0.828	B	0.43194	0.411	T	0.45469	-0.9259	10	0.33940	T	0.23	.	16.0445	0.80711	0.0:1.0:0.0:0.0	.	271	Q8NCK7	MOT11_HUMAN	H	271;247	ENSP00000310490:D271H;ENSP00000394449:D247H	ENSP00000310490:D271H	D	-	1	0	SLC16A11	6886414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.749000	0.55150	2.633000	0.89246	0.655000	0.94253	GAC	SLC16A11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.667	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	C	NM_153357		6945690	-1	no_errors	ENST00000308009	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6945690	C	G	6945690	3	3	117	1	0	0	0	0	1	0	0	0	14434	913	32	1	612	1	SLC16A11	17	6945690	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5619	6945690	74249520	1047	18515										
DLG4	1742	genome.wustl.edu	37	chr17	7097021	7097021	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtctcgtagctcagaaccGagtcttctcgacctggtggg	12	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7097021G>C	ENST00000399506.2	-	15	1747	c.1556C>G	c.(1555-1557)tCg>tGg	p.S519W	DLG4_ENST00000302955.6_Missense_Mutation_p.S516W|DLG4_ENST00000399510.2_Missense_Mutation_p.S562W			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	519					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCTCAGAACCGAGTCTTCTCG	0.617																																																	0													72	82	79					17																	7097021		2019	4184	6203	SO:0001583	missense	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1556C>G	17.37:g.7097021G>C	ENSP00000382425:p.Ser519Trp		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S562W	ENST00000399506.2	37	c.1685		17	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711526	0.48517	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.13657	2.57;2.58;2.57	5.2	5.2	0.72013	Src homology-3 domain (1);	.	.	.	.	T	0.15392	0.0371	N	0.14661	0.345	0.53688	D	0.999979	B;P;P;P	0.52061	0.001;0.701;0.68;0.95	B;P;P;P	0.52646	0.005;0.705;0.597;0.637	T	0.04386	-1.0955	9	0.37606	T	0.19	.	16.2856	0.82720	0.0:0.0:1.0:0.0	.	559;519;516;562	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	W	519;516;562;562;459;562	ENSP00000382425:S519W;ENSP00000307471:S516W;ENSP00000382428:S562W	ENSP00000293813:S562W	S	-	2	0	DLG4	7037745	0.995000	0.38212	0.971000	0.41717	0.996000	0.88848	4.763000	0.62257	2.722000	0.93159	0.655000	0.94253	TCG	DLG4	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase		0.617	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	G	NM_001365		7097021	-1	no_errors	ENST00000293813	ensembl	human	known	70_37	missense	SNP	0.981	C	C	7097021	G	C	7097021	3	2	117	1	0	0	0	0	1	0	0	0	4567	1059	37	1	642	1	DLG4	17	7097021	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	151331	7097021	74098189	1048	18516										
POLR2A	5430	genome.wustl.edu	37	chr17	7407087	7407087	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actggctgcttggggagattGagtccaagttcaaccaagcc	12	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7407087G>C	ENST00000322644.6	+	19	3616	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1073					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGGGAGATTGAGTCCAAGTT	0.542																																																	0													75	62	66					17																	7407087		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3217G>C	17.37:g.7407087G>C	ENSP00000314949:p.Glu1073Gln		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.E1073Q	ENST00000322644.6	37	c.3217	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023369	0.93462	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.69175	-0.38	6.04	6.04	0.98038	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.90309	3.105	0.80722	D	1	P	0.42649	0.786	P	0.55222	0.771	D	0.85567	0.1231	10	0.87932	D	0	-16.0508	19.3507	0.94384	0.0:0.0:1.0:0.0	.	1073	P24928	RPB1_HUMAN	Q	1029;1073	ENSP00000314949:E1073Q	ENSP00000314949:E1073Q	E	+	1	0	SLC35G6	7347811	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	8.796000	0.91877	2.873000	0.98535	0.561000	0.74099	GAG	POLR2A	-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	G	NM_000937		7407087	1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7407087	G	C	7407087	3	2	117	1	0	0	0	0	1	0	0	0	12238	1291	45	1	3291	1	POLR2A	17	7407087	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	310066	7407087	73788123	1049	18517										
TP53	7157	genome.wustl.edu	37	chr17	7573977	7573977	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcccagcctgggcatccttGagttccaaggcctcattcag	9	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7573977G>C	ENST00000269305.4	-	10	1239	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	TP53_ENST00000445888.2_Silent_p.L350L|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	350	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.K351fs*19(1)|p.L350L(1)|p.L350fs*28(1)|p.?(1)|p.I332fs*5(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)	GGGCATCCTTGAGTTCCAAGG	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	13	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)|Substitution - coding silent(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|skin(1)											60	46	51					17																	7573977		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1050C>G	17.37:g.7573977G>C			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	Silent	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.L350	ENST00000269305.4	37	c.1050	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7573977	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	silent	SNP	0.924	C	C	7573977	G	C	7573977	2	2	117	1	0	0	0	0	0	0	0	1	16412	1277	45	1		1	TP53	17	7573977	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	166890	7573977	73621233	1050	18518										
GUCY2D	3000	genome.wustl.edu	37	chr17	7917302	7917302	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgatgaagcagtgctgggcaGagcagccggaacttcggccc	15	11	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7917302G>C	ENST00000254854.4	+	12	2518	c.2368G>C	c.(2368-2370)Gag>Cag	p.E790Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	790	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GTGCTGGGCAGAGCAGCCGGA	0.647																																																	0													86	85	85					17																	7917302		2203	4300	6503	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2368G>C	17.37:g.7917302G>C	ENSP00000254854:p.Glu790Gln		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.E790Q	ENST00000254854.4	37	c.2368	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.103614	0.94245	.	.	ENSG00000132518	ENST00000254854	T	0.62364	0.03	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000057	T	0.79673	0.4486	M	0.75615	2.305	0.48511	D	0.999663	D	0.89917	1.0	D	0.97110	1.0	T	0.79967	-0.1580	10	0.56958	D	0.05	.	18.2031	0.89846	0.0:0.0:1.0:0.0	.	790	Q02846	GUC2D_HUMAN	Q	790	ENSP00000254854:E790Q	ENSP00000254854:E790Q	E	+	1	0	GUCY2D	7858027	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.347000	0.79356	2.837000	0.97791	0.655000	0.94253	GAG	GUCY2D	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.647	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	G			7917302	1	no_errors	ENST00000254854	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7917302	G	C	7917302	3	2	117	1	0	0	0	0	1	0	0	0	6917	943	33	1	2410	1	GUCY2D	17	7917302	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	343325	7917302	73277908	1051	18519										
PER1	5187	genome.wustl.edu	37	chr17	8046090	8046090	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgcgagtcctcttgcagcaGaagttcgagcaggtcactgg	14	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8046090G>A	ENST00000317276.4	-	20	3373	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	PER1_ENST00000581082.1_Silent_p.L1023L|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1046	Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTGCAGCAGAAGTTCGAGC	0.662			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													47	50	49					17																	8046090		2203	4300	6503	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3136C>T	17.37:g.8046090G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.L1046	ENST00000317276.4	37	c.3136	CCDS11131.1	17																																																																																			PER1	-	pfam_Period_circadian-like_C		0.662	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	G			8046090	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8046090	G	A	8046090	2	1	117	1	0	0	0	0	0	0	0	1	11753	933	33	1		1	PER1	17	8046090	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	128788	8046090	73149120	1052	18520										
PER1	5187	genome.wustl.edu	37	chr17	8050296	8050296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgcttcaccagatgcacatCcttacagatctgctggaaag	9	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8050296C>T	ENST00000317276.4	-	14	1891	c.1654G>A	c.(1654-1656)Gat>Aat	p.D552N	PER1_ENST00000581082.1_Missense_Mutation_p.D532N|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Missense_Mutation_p.D536N	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	552					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGATGCACATCCTTACAGATC	0.577			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													44	51	49					17																	8050296		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1654G>A	17.37:g.8050296C>T	ENSP00000314420:p.Asp552Asn		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.D552N	ENST00000317276.4	37	c.1654	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092911	0.56075	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.40476	2.48;1.03	5.06	4.09	0.47781	.	0.160718	0.53938	D	0.000056	T	0.47469	0.1447	L	0.37630	1.12	0.43351	D	0.995411	P;D	0.69078	0.846;0.997	B;D	0.73380	0.261;0.98	T	0.34129	-0.9841	10	0.21540	T	0.41	-17.7864	8.2569	0.31763	0.0:0.8176:0.0:0.1824	.	536;552	B4DI49;O15534	.;PER1_HUMAN	N	552;536	ENSP00000314420:D552N;ENSP00000346979:D536N	ENSP00000314420:D552N	D	-	1	0	PER1	7991021	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	5.837000	0.69381	1.269000	0.44280	0.446000	0.29264	GAT	PER1	-	NULL		0.577	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	C			8050296	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8050296	C	T	8050296	3	4	117	1	0	0	0	0	1	0	0	0	11753	855	30	1	2258	1	PER1	17	8050296	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4206	8050296	73144914	1053	18521										
TMEM107	84314	genome.wustl.edu	37	chr17	8077884	8077884	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgtagtgcactcccaacgctCgaatatgaagaaggacaggg	12	10	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8077884C>G	ENST00000437139.2	-	4	394	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	TMEM107_ENST00000533070.1_Missense_Mutation_p.E109Q|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000316425.5_Missense_Mutation_p.E109Q|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000431792.2_Intron|RP11-599B13.7_ENST00000581248.1_lincRNA|SNORD118_ENST00000363593.1_RNA	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	103					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						TCCCAACGCTCGAATATGAAG	0.498																																																	0													247	224	232					17																	8077884		2203	4300	6503	SO:0001583	missense	84314			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.307G>C	17.37:g.8077884C>G	ENSP00000402732:p.Glu103Gln		A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	NULL	p.E109Q	ENST00000437139.2	37	c.325	CCDS45607.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617120	0.87359	.	.	ENSG00000179029	ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.91	5.91	0.95273	.	2.778950	0.01125	N	0.005863	T	0.74344	0.3704	L	0.39566	1.225	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.54105	-0.8343	9	0.37606	T	0.19	.	15.7989	0.78436	0.0:1.0:0.0:0.0	.	109;109;103	Q6UX40-3;Q6UX40-4;Q6UX40	.;.;TM107_HUMAN	Q	103;109;109	.	ENSP00000314116:E109Q	E	-	1	0	TMEM107	8018609	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.678000	0.61641	2.803000	0.96430	0.542000	0.68232	GAG	TMEM107	-	NULL		0.498	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM107	HGNC	protein_coding	OTTHUMT00000388844.1	C	NM_032354		8077884	-1	no_errors	ENST00000316425	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8077884	C	G	8077884	3	3	117	1	0	0	0	0	1	0	0	0	16053	893	31	1	123	1	TMEM107	17	8077884	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	27588	8077884	73117326	1054	18522										
MYH10	4628	genome.wustl.edu	37	chr17	8445559	8445559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaacagctgctgcagcttctCattggtgtagttgatgcaaa	11	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8445559C>G	ENST00000269243.4	-	13	1579	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E491Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E497Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E481Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	481	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCAGCTTCTCATTGGTGTAG	0.448																																																	0													138	123	128					17																	8445559		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1441G>C	17.37:g.8445559C>G	ENSP00000269243:p.Glu481Gln		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E481Q	ENST00000269243.4	37	c.1441	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273179	0.80580	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.98150	-1.65;-1.65;-4.75;-1.65	5.09	5.09	0.68999	Myosin head, motor domain (3);	0.099522	0.64402	D	0.000002	D	0.98473	0.9491	H	0.98333	4.205	0.80722	D	1	B;B;B	0.33073	0.396;0.098;0.396	B;B;B	0.32090	0.14;0.135;0.14	D	0.99572	1.0971	10	0.87932	D	0	.	19.0562	0.93066	0.0:1.0:0.0:0.0	.	490;491;481	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	481;491;481;497	ENSP00000269243:E481Q;ENSP00000353590:E491Q;ENSP00000379539:E481Q;ENSP00000369315:E497Q	ENSP00000269243:E481Q	E	-	1	0	MYH10	8386284	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	7.651000	0.83577	2.804000	0.96469	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.448	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8445559	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8445559	C	G	8445559	3	3	117	1	0	0	0	0	1	0	0	0	10053	835	29	1	4605	1	MYH10	17	8445559	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	367675	8445559	72749651	1055	18523										
USP43	124739	genome.wustl.edu	37	chr17	9613288	9613288	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcagcctactgccggaactCtctggatggccagtggtaca	12	12	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:9613288C>G	ENST00000285199.7	+	13	2123	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.S671C	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	676	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGCCGGAACTCTCTGGATGGC	0.512																																																	0													76	76	76					17																	9613288		1971	4162	6133	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2027C>G	17.37:g.9613288C>G	ENSP00000285199:p.Ser676Cys		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S676C	ENST00000285199.7	37	c.2027	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594943	0.86953	.	.	ENSG00000154914	ENST00000285199	T	0.32988	1.43	5.51	5.51	0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.996;0.992;0.976;0.993	T	0.51379	-0.8713	10	0.62326	D	0.03	-18.197	17.2756	0.87114	0.0:1.0:0.0:0.0	.	671;365;676;188	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	C	676	ENSP00000285199:S676C	ENSP00000285199:S676C	S	+	2	0	USP43	9554013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.286000	0.78671	2.751000	0.94390	0.650000	0.86243	TCT	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.512	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9613288	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9613288	C	G	9613288	3	3	117	1	0	0	0	0	1	0	0	0	17105	913	32	1	2077	1	USP43	17	9613288	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1167729	9613288	71581922	1056	18524										
MYH13	8735	genome.wustl.edu	37	chr17	10213054	10213054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagctgctcgatttcttcatCcttctcaatgaccttgcggt	7	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10213054C>T	ENST00000418404.3	-	33	4913	c.4750G>A	c.(4750-4752)Gat>Aat	p.D1584N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.D1584N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1584					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTCTTCATCCTTCTCAATG	0.567																																																	0													46	46	46					17																	10213054		2085	4229	6314	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4750G>A	17.37:g.10213054C>T	ENSP00000404570:p.Asp1584Asn		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1584N	ENST00000418404.3	37	c.4750	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441594	0.63067	.	.	ENSG00000006788	ENST00000252172	T	0.80393	-1.37	4.18	4.18	0.49190	Myosin tail (1);	.	.	.	.	D	0.88503	0.6454	M	0.69823	2.125	0.48135	D	0.999596	D	0.62365	0.991	D	0.70016	0.967	D	0.89698	0.3903	9	0.59425	D	0.04	.	17.0639	0.86554	0.0:1.0:0.0:0.0	.	1584	Q9UKX3	MYH13_HUMAN	N	1584	ENSP00000252172:D1584N	ENSP00000252172:D1584N	D	-	1	0	MYH13	10153779	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.731000	0.84895	2.326000	0.78906	0.462000	0.41574	GAT	MYH13	-	pfam_Myosin_tail		0.567	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10213054	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10213054	C	T	10213054	3	4	117	1	0	0	0	0	1	0	0	0	10055	855	30	1	1098	1	MYH13	17	10213054	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	599766	10213054	70982156	1057	18525										
MYH1	4619	genome.wustl.edu	37	chr17	10398307	10398307	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagggccagctgctcagcctCatccagacgatgctgcaggt	12	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10398307C>T	ENST00000226207.5	-	37	5501	c.5407G>A	c.(5407-5409)Gag>Aag	p.E1803K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1803					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCTCAGCCTCATCCAGACGA	0.547																																																	0													139	136	137					17																	10398307		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5407G>A	17.37:g.10398307C>T	ENSP00000226207:p.Glu1803Lys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1803K	ENST00000226207.5	37	c.5407	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.607424	0.96626	.	.	ENSG00000109061	ENST00000226207	D	0.81579	-1.51	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.94205	0.8140	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96297	0.9218	10	0.87932	D	0	.	19.2282	0.93825	0.0:1.0:0.0:0.0	.	1803	P12882	MYH1_HUMAN	K	1803	ENSP00000226207:E1803K	ENSP00000226207:E1803K	E	-	1	0	MYH1	10339032	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.772000	0.85439	2.616000	0.88540	0.561000	0.74099	GAG	MYH1	-	pfam_Myosin_tail		0.547	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10398307	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10398307	C	T	10398307	3	4	117	1	0	0	0	0	1	0	0	0	10052	835	29	1	428	1	MYH1	17	10398307	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	185253	10398307	70796903	1058	18526										
MYH2	4620	genome.wustl.edu	37	chr17	10430338	10430338	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttgataactgagacaccaGagcttccttttcatcaagct	6	11	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10430338G>A	ENST00000245503.5	-	29	4291	c.3907C>T	c.(3907-3909)Ctg>Ttg	p.L1303L	MYH2_ENST00000397183.2_Silent_p.L1303L|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1303					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1303V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGACACCAGAGCTTCCTTT	0.383																																																	1	Substitution - Missense(1)	lung(1)											86	82	83					17																	10430338		2203	4300	6503	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3907C>T	17.37:g.10430338G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1303	ENST00000245503.5	37	c.3907	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10430338	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	0.330	A	A	10430338	G	A	10430338	2	1	117	1	0	0	0	0	0	0	0	1	10058	933	33	1		1	MYH2	17	10430338	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	32031	10430338	70764872	1059	18527										
PIRT	644139	genome.wustl.edu	37	chr17	10728932	10728932	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggagacttctcatcgacctCtagaaccttggggagagtct	11	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10728932C>G	ENST00000580256.2	-	2	669	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	11						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						TCATCGACCTCTAGAACCTTG	0.577																																																	0													26	25	25					17																	10728932		1933	4128	6061	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.31G>C	17.37:g.10728932C>G	ENSP00000462046:p.Glu11Gln		B7Z648	Missense_Mutation	SNP	NULL	p.E11Q	ENST00000580256.2	37	c.31	CCDS45614.1	17	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759932	0.31137	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.33	4.3	0.51218	.	.	.	.	.	T	0.34542	0.0901	N	0.19112	0.55	0.28867	N	0.895184	D	0.61080	0.989	P	0.56563	0.801	T	0.06338	-1.0832	8	0.36615	T	0.2	-7.2751	8.0478	0.30559	0.0:0.8905:0.0:0.1095	.	11	P0C851	PIRT_HUMAN	Q	11	.	ENSP00000408936:E11Q	E	-	1	0	PIRT	10669657	0.920000	0.31207	0.999000	0.59377	0.435000	0.31806	2.674000	0.46867	2.771000	0.95319	0.561000	0.74099	GAG	PIRT	-	NULL		0.577	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	C	NM_001101387		10728932	-1	no_errors	ENST00000580256	ensembl	human	known	70_37	missense	SNP	0.990	G	G	10728932	C	G	10728932	3	3	117	1	0	0	0	0	1	0	0	0	11969	922	32	1	386	1	PIRT	17	10728932	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	298594	10728932	70466278	1060	18528										
MYOCD	93649	genome.wustl.edu	37	chr17	12656108	12656108	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaagtctcatgagcagcctGaatgggggctctgttccttc	12	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:12656108G>A	ENST00000343344.4	+	10	1503	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.L501L|AC005358.1_ENST00000609971.1_Silent_p.L405L			Q8IZQ8	MYCD_HUMAN	myocardin	501	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGAGCAGCCTGAATGGGGGCT	0.587																																																	0													49	47	48					17																	12656108		2203	4300	6503	SO:0001819	synonymous_variant	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1503G>A	17.37:g.12656108G>A			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.L501	ENST00000343344.4	37	c.1503	CCDS11163.1	17																																																																																			MYOCD	-	NULL		0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	G	NM_153604		12656108	1	no_errors	ENST00000425538	ensembl	human	known	70_37	silent	SNP	0.711	A	A	12656108	G	A	12656108	2	1	117	1	0	0	0	0	0	0	0	1	10110	1277	45	1		1	MYOCD	17	12656108	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1927176	12656108	68539102	1061	18529										
MYO15A	51168	genome.wustl.edu	37	chr17	18061908	18061908	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcccaccctacacaatgctCgagtttgcccagaagtattt	6	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:18061908C>G	ENST00000205890.5	+	52	9377	c.9039C>G	c.(9037-9039)ctC>ctG	p.L3013L	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Silent_p.L277L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3013	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACACAATGCTCGAGTTTGCCC	0.652																																																	0													83	84	84					17																	18061908		1944	4141	6085	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9039C>G	17.37:g.18061908C>G			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L3013	ENST00000205890.5	37	c.9039	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18061908	1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.888	G	G	18061908	C	G	18061908	2	3	117	1	0	0	0	0	0	0	0	1	10086	871	31	1		1	MYO15A	17	18061908	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5405800	18061908	63133302	1062	18530										
PRPSAP2	5636	genome.wustl.edu	37	chr17	18832268	18832268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgaagagtctgccattgatGaggtaacagggtctgggtgt	15	5	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:18832268G>C	ENST00000268835.2	+	11	1232	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.E231Q|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.E277Q|PRPSAP2_ENST00000542013.1_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	317					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGCCATTGATGAGGTAACAGG	0.493																																																	0													129	129	129					17																	18832268		2203	4300	6503	SO:0001583	missense	5636			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.949G>C	17.37:g.18832268G>C	ENSP00000268835:p.Glu317Gln		B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.E317Q	ENST00000268835.2	37	c.949	CCDS11200.1	17	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335730	0.60853	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000268835;ENST00000536323	T;T;T	0.74842	-0.88;-0.88;-0.88	5.19	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.66378	2.025	0.80722	D	1	P;P;B	0.45768	0.866;0.493;0.365	B;B;B	0.42555	0.391;0.104;0.115	T	0.77286	-0.2644	10	0.59425	D	0.04	-5.5675	14.1423	0.65327	0.0734:0.0:0.9266:0.0	.	277;104;317	E7EMY2;Q6ZTP6;O60256	.;.;KPRB_HUMAN	Q	317;277;317;231	ENSP00000392536:E277Q;ENSP00000268835:E317Q;ENSP00000443967:E231Q	ENSP00000268835:E317Q	E	+	1	0	PRPSAP2	18772993	1.000000	0.71417	0.912000	0.35992	0.940000	0.58332	9.729000	0.98795	1.309000	0.44985	0.585000	0.79938	GAG	PRPSAP2	-	tigrfam_Rib-P_diPkinase		0.493	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP2	HGNC	protein_coding	OTTHUMT00000132112.3	G	NM_002767		18832268	1	no_errors	ENST00000268835	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18832268	G	C	18832268	3	2	117	1	0	0	0	0	1	0	0	0	12609	1291	45	1	983	1	PRPSAP2	17	18832268	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	770360	18832268	62362942	1063	18531										
KCNJ12	3768	genome.wustl.edu	37	chr17	21318909	21318909	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgctggcggtacatgctgctCatcttctcgctggccttcct	10	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:21318909C>G	ENST00000583088.1	+	3	1150	c.255C>G	c.(253-255)ctC>ctG	p.L85L	KCNJ12_ENST00000331718.5_Silent_p.L85L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	85					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACATGCTGCTCATCTTCTCGC	0.602										Prostate(3;0.18)																																							0													192	118	143					17																	21318909		2203	4300	6503	SO:0001819	synonymous_variant	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.255C>G	17.37:g.21318909C>G			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.L85	ENST00000583088.1	37	c.255	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	C	NM_021012		21318909	1	no_errors	ENST00000331718	ensembl	human	known	70_37	silent	SNP	1.000	G	G	21318909	C	G	21318909	2	3	117	1	0	0	0	0	0	0	0	1	8066	813	29	1		1	KCNJ12	17	21318909	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2486641	21318909	59876301	1064	18532										
SARM1	23098	genome.wustl.edu	37	chr17	26712222	26712222	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgctgcaccgcgtgtctGagcagcagctgctggaagac	13	14	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:26712222G>C	ENST00000457710.3	+	5	1927	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	520	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCGCGTGTCTGAGCAGCAGCT	0.731																																																	0													11	12	12					17																	26712222		2194	4279	6473	SO:0001583	missense	23098			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1456G>C	17.37:g.26712222G>C	ENSP00000406738:p.Glu486Gln		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.E486Q	ENST00000457710.3	37	c.1456		17	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146463	0.57044	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.49	5.49	0.81192	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.180419	0.48286	D	0.000184	T	0.79851	0.4517	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.81927	-0.0709	8	0.72032	D	0.01	-21.746	19.3712	0.94488	0.0:0.0:1.0:0.0	.	520	Q6SZW1	SARM1_HUMAN	Q	518;486	.	ENSP00000003834:E486Q	E	+	1	0	SARM1	23736349	1.000000	0.71417	0.947000	0.38551	0.668000	0.39293	9.819000	0.99357	2.558000	0.86282	0.655000	0.94253	GAG	SARM1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.731	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	G	NM_015077		26712222	1	no_errors	ENST00000457710	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	26712222	G	C	26712222	3	2	117	1	0	0	0	0	1	0	0	0	13872	1291	45	1	1574	1	SARM1	17	26712222	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5393313	26712222	54482988	1065	18533										
SUPT6H	6830	genome.wustl.edu	37	chr17	27017196	27017196	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctaccgctctcccaacacaGaggagatcttcaatatgtta	6	13	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:27017196G>C	ENST00000314616.6	+	26	3722	c.3439G>C	c.(3439-3441)Gag>Cag	p.E1147Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1147Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1147	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCCAACACAGAGGAGATCTT	0.478																																																	0													104	98	100					17																	27017196		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3439G>C	17.37:g.27017196G>C	ENSP00000319104:p.Glu1147Gln		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E1147Q	ENST00000314616.6	37	c.3439	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.470363	0.96274	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.85995	0.1491	9	0.49607	T	0.09	-26.595	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1147	Q7KZ85	SPT6H_HUMAN	Q	1147	.	ENSP00000319104:E1147Q	E	+	1	0	SUPT6H	24041323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.160000	0.94734	2.894000	0.99253	0.655000	0.94253	GAG	SUPT6H	-	pirsf_TF_Spt6		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	G	NM_003170		27017196	1	no_errors	ENST00000314616	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27017196	G	C	27017196	3	2	117	1	0	0	0	0	1	0	0	0	15430	943	33	1	3537	1	SUPT6H	17	27017196	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	304974	27017196	54178014	1066	18534										
ERAL1	26284	genome.wustl.edu	37	chr17	27182228	27182228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctggtccccgcttggcctCggcttctcgcagtaatggcc	11	16	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:27182228C>T	ENST00000254928.5	+	1	273	c.176C>T	c.(175-177)tCg>tTg	p.S59L	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	59					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CGCTTGGCCTCGGCTTCTCGC	0.637																																																	0													63	60	61					17																	27182228		2203	4300	6503	SO:0001583	missense	26284			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.176C>T	17.37:g.27182228C>T	ENSP00000254928:p.Ser59Leu		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S59L	ENST00000254928.5	37	c.176	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	C	7.447	0.641896	0.14451	.	.	ENSG00000132591	ENST00000254928	.	.	.	4.95	2.97	0.34412	.	0.560427	0.17674	N	0.165860	T	0.41373	0.1156	M	0.68317	2.08	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.09377	0.001;0.004	T	0.26121	-1.0112	9	0.33940	T	0.23	-0.0937	6.7528	0.23497	0.0:0.7961:0.0:0.2039	.	59;59	O75616;O75616-2	ERAL1_HUMAN;.	L	59	.	ENSP00000254928:S59L	S	+	2	0	ERAL1	24206354	0.000000	0.05858	0.011000	0.14972	0.024000	0.10985	0.712000	0.25779	1.462000	0.47948	0.561000	0.74099	TCG	ERAL1	-	NULL		0.637	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2	C			27182228	1	no_errors	ENST00000254928	ensembl	human	known	70_37	missense	SNP	0.001	T	T	27182228	C	T	27182228	3	4	117	1	0	0	0	0	1	0	0	0	5214	893	31	1	178	1	ERAL1	17	27182228	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	165032	27182228	54012982	1067	18535										
FLOT2	2319	genome.wustl.edu	37	chr17	27211323	27211323	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggctgcaacgtcataatctCtagggaaatcctgccaagaa	10	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:27211323C>G	ENST00000394908.4	-	3	246	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000394906.2_Missense_Mutation_p.E103Q|FLOT2_ENST00000577789.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	48					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GTCATAATCTCTAGGGAAATC	0.602																																																	0													50	54	53					17																	27211323		2064	4184	6248	SO:0001583	missense	2319			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.142G>C	17.37:g.27211323C>G	ENSP00000378368:p.Glu48Gln			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E48Q	ENST00000394908.4	37	c.142	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069808	0.55539	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.56275	0.47;0.47	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	T	0.73830	0.3637	M	0.82630	2.6	0.80722	D	1	D	0.56287	0.975	D	0.64776	0.929	T	0.77164	-0.2688	10	0.52906	T	0.07	-23.1753	17.4593	0.87616	0.0:1.0:0.0:0.0	.	48	Q14254	FLOT2_HUMAN	Q	103;48	ENSP00000378366:E103Q;ENSP00000378368:E48Q	ENSP00000378366:E103Q	E	-	1	0	FLOT2	24235449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.353000	0.79882	0.563000	0.77884	GAG	FLOT2	-	pfam_Band_7		0.602	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	C	NM_004475		27211323	-1	no_errors	ENST00000394908	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27211323	C	G	27211323	3	3	117	1	0	0	0	0	1	0	0	0	5955	922	32	1	1180	1	FLOT2	17	27211323	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	29095	27211323	53983887	1068	18536										
TMIGD1	388364	genome.wustl.edu	37	chr17	28656379	28656379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagagacacagacagagctgGaattgattttgtttccagat	10	6	0	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:28656379G>T	ENST00000328886.4	-	3	323	c.251C>A	c.(250-252)tCc>tAc	p.S84Y	TMIGD1_ENST00000538566.2_Missense_Mutation_p.S84Y	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	84	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GACAGAGCTGGAATTGATTTT	0.493																																																	0													141	122	128					17																	28656379		2203	4300	6503	SO:0001583	missense	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.251C>A	17.37:g.28656379G>T	ENSP00000332404:p.Ser84Tyr		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S84Y	ENST00000328886.4	37	c.251	CCDS32605.1	17	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765302	0.69878	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.14022	2.54;2.54	5.52	4.53	0.55603	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.457136	0.25236	N	0.032128	T	0.26231	0.0640	L	0.56769	1.78	0.32327	N	0.56155	D;D	0.61080	0.986;0.989	P;P	0.58077	0.742;0.832	T	0.30179	-0.9987	10	0.52906	T	0.07	-1.5911	10.2948	0.43618	0.17:0.0:0.83:0.0	.	84;84	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	Y	84	ENSP00000332404:S84Y;ENSP00000446118:S84Y	ENSP00000332404:S84Y	S	-	2	0	TMIGD1	25680505	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.191000	0.42640	1.289000	0.44618	0.579000	0.79373	TCC	TMIGD1	-	smart_Ig_sub,pfscan_Ig-like		0.493	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIGD1	HGNC	protein_coding	OTTHUMT00000447955.1	G	NM_206832		28656379	-1	no_errors	ENST00000328886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28656379	G	T	28656379	3	4	117	1	0	0	0	0	1	0	0	0	16260	1174	41	3	557	3	TMIGD1	17	28656379	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1445056	28656379	52538831	1069	18537										
CRLF3	51379	genome.wustl.edu	37	chr17	29111327	29111327	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atttgaacttatagttactcGaagcttgaagtgtccacctt	7	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:29111327G>A	ENST00000324238.6	-	8	1331	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	CRLF3_ENST00000544695.1_Nonsense_Mutation_p.R287*|CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	403					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATAGTTACTCGAAGCTTGAAG	0.413																																					Pancreas(30;346 881 29244 33464 41299)												0													88	81	84					17																	29111327		2203	4300	6503	SO:0001587	stop_gained	51379			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1207C>T	17.37:g.29111327G>A	ENSP00000318804:p.Arg403*		A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R403*	ENST00000324238.6	37	c.1207	CCDS32607.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.724216	0.96847	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	.	.	.	5.17	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9974	14.8895	0.70597	0.0:0.0:0.7623:0.2377	.	.	.	.	X	403;287	.	ENSP00000318804:R403X	R	-	1	2	CRLF3	26135453	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.914000	0.48797	2.561000	0.86390	0.563000	0.77884	CGA	CRLF3	-	NULL		0.413	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF3	HGNC	protein_coding	OTTHUMT00000444354.1	G			29111327	-1	no_errors	ENST00000324238	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	29111327	G	A	29111327	4	1	117	1	0	0	0	0	0	1	0	0	3893	1066	37	1	125	1	CRLF3	17	29111327	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	454948	29111327	52083883	1070	18538										
LRRC37B	114659	genome.wustl.edu	37	chr17	30348320	30348320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgagccctggtcttcccgctCctcccatctcccatgggaat	8	17	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:30348320C>T	ENST00000341671.7	+	1	160	c.155C>T	c.(154-156)tCc>tTc	p.S52F	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S52F|LRRC37B_ENST00000327564.7_Missense_Mutation_p.S79F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S64F	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	52						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTTCCCGCTCCTCCCATCTC	0.627																																																	0													59	68	65					17																	30348320		2203	4300	6503	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.155C>T	17.37:g.30348320C>T	ENSP00000340519:p.Ser52Phe		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S52F	ENST00000341671.7	37	c.155	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	14.06	2.422758	0.43020	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	T;T;T	0.71222	-0.55;0.58;-0.53	2.17	2.17	0.27698	.	.	.	.	.	T	0.77857	0.4193	L	0.55481	1.735	0.09310	N	1	D;D	0.65815	0.994;0.995	D;D	0.75484	0.965;0.986	T	0.63166	-0.6698	9	0.72032	D	0.01	.	7.9195	0.29837	0.0:1.0:0.0:0.0	.	52;52	Q17RC9;Q96QE4	.;LR37B_HUMAN	F	79;52;52	ENSP00000332536:S79F;ENSP00000378202:S52F;ENSP00000340519:S52F	ENSP00000332536:S79F	S	+	2	0	LRRC37B	27372433	0.000000	0.05858	0.008000	0.14137	0.181000	0.23173	0.336000	0.19823	1.520000	0.48965	0.299000	0.19835	TCC	LRRC37B	-	NULL		0.627	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	C	NM_052888		30348320	1	no_errors	ENST00000341671	ensembl	human	known	70_37	missense	SNP	0.009	T	T	30348320	C	T	30348320	3	4	117	1	0	0	0	0	1	0	0	0	9017	855	30	1	157	1	LRRC37B	17	30348320	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1236993	30348320	50846890	1071	18539										
MYO1D	4642	genome.wustl.edu	37	chr17	30980882	30980882	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttacggacgtgacaggaaaaGaggacattcatgtatttgtc	11	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:30980882G>C	ENST00000318217.5	-	19	2878	c.2574C>G	c.(2572-2574)ctC>ctG	p.L858L	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.L858L|MYO1D_ENST00000394649.4_Silent_p.L770L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	858	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GACAGGAAAAGAGGACATTCA	0.413																																																	0													144	116	125					17																	30980882		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2574C>G	17.37:g.30980882G>C			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L858	ENST00000318217.5	37	c.2574	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_tail_2		0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	G			30980882	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	silent	SNP	1.000	C	C	30980882	G	C	30980882	2	2	117	1	0	0	0	0	0	0	0	1	10094	929	33	1		1	MYO1D	17	30980882	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	632562	30980882	50214328	1072	18540										
TMEM132E	124842	genome.wustl.edu	37	chr17	32953295	32953295	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgcggtcgccaacagctctCtgcagcgctccgagcccttc	10	19	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:32953295C>T	ENST00000321639.5	+	2	545	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	73						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAACAGCTCTCTGCAGCGCTC	0.701																																																	0													19	18	18					17																	32953295		2199	4298	6497	SO:0001819	synonymous_variant	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.217C>T	17.37:g.32953295C>T			Q8WUF4|Q8WVA5	Silent	SNP	NULL	p.L73	ENST00000321639.5	37	c.217	CCDS11283.1	17																																																																																			TMEM132E	-	NULL		0.701	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	C	NM_207313		32953295	1	no_errors	ENST00000321639	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32953295	C	T	32953295	2	4	117	1	0	0	0	0	0	0	0	1	16078	912	32	1		1	TMEM132E	17	32953295	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1972413	32953295	48241915	1073	18541										
CCT6B	10693	genome.wustl.edu	37	chr17	33267634	33267634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaatctaaggaaaatggatCaattccctataatcaaatta	5	6	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:33267634C>G	ENST00000314144.5	-	8	1007	c.892G>C	c.(892-894)Gat>Cat	p.D298H	CCT6B_ENST00000421975.3_Missense_Mutation_p.D261H|CCT6B_ENST00000436961.3_Missense_Mutation_p.D253H	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	298					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAAAATGGATCAATTCCCTAT	0.303																																																	0													55	60	58					17																	33267634		2203	4293	6496	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.892G>C	17.37:g.33267634C>G	ENSP00000327191:p.Asp298His		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.D298H	ENST00000314144.5	37	c.892	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040802	0.55003	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.70282	-0.47;-0.47;-0.47	3.3	3.3	0.37823	.	0.088686	0.85682	D	0.000000	D	0.90280	0.6960	H	0.99535	4.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	D	0.93420	0.6776	10	0.87932	D	0	-9.4327	12.9115	0.58182	0.0:1.0:0.0:0.0	.	253;261;298	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	H	261;298;253	ENSP00000398044:D261H;ENSP00000327191:D298H;ENSP00000400917:D253H	ENSP00000327191:D298H	D	-	1	0	CCT6B	30291747	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.886000	0.75611	2.156000	0.67533	0.460000	0.39030	GAT	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta		0.303	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	C	NM_006584		33267634	-1	no_errors	ENST00000314144	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33267634	C	G	33267634	3	3	117	1	0	0	0	0	1	0	0	0	2963	826	29	1	728	1	CCT6B	17	33267634	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	314339	33267634	47927576	1074	18542										
C17orf50	146853	genome.wustl.edu	37	chr17	34091109	34091109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggaagggaaggaggggtcgGaggacgaggacgaggacaac	21	5	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34091109G>A	ENST00000285023.4	+	2	129	c.97G>A	c.(97-99)Gag>Aag	p.E33K	C17orf50_ENST00000588628.1_Missense_Mutation_p.G40E|C17orf50_ENST00000586491.1_Missense_Mutation_p.E33K	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	33													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ggaggggtcggaggacgagga	0.706																																																	0													9	14	13					17																	34091109		1666	3454	5120	SO:0001583	missense	146853			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.97G>A	17.37:g.34091109G>A	ENSP00000285023:p.Glu33Lys		Q6Q621	Missense_Mutation	SNP	NULL	p.E33K	ENST00000285023.4	37	c.97	CCDS42298.1	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602198	0.28534	.	.	ENSG00000154768	ENST00000285023	T	0.46451	0.87	5.19	4.2	0.49525	.	0.603359	0.14690	N	0.304199	T	0.42063	0.1186	L	0.27053	0.805	0.26375	N	0.976829	D	0.63046	0.992	P	0.56563	0.801	T	0.17349	-1.0372	10	0.23302	T	0.38	.	10.7075	0.45962	0.0:0.0:0.8015:0.1985	.	33	Q8WW18	CQ050_HUMAN	K	33	ENSP00000285023:E33K	ENSP00000285023:E33K	E	+	1	0	C17orf50	31115222	0.901000	0.30685	0.521000	0.27850	0.517000	0.34286	1.491000	0.35583	1.123000	0.41961	0.514000	0.50259	GAG	C17orf50	-	NULL		0.706	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf50	HGNC	protein_coding	OTTHUMT00000449132.1	G	NM_145272		34091109	1	no_errors	ENST00000285023	ensembl	human	known	70_37	missense	SNP	0.941	A	A	34091109	G	A	34091109	3	1	117	1	0	0	0	0	1	0	0	0	1865	1175	41	1	103	1	C17orf50	17	34091109	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	823475	34091109	47104101	1075	18543										
MYO19	80179	genome.wustl.edu	37	chr17	34856777	34856777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	actgctccagcacccgggcaCgcccacattccagaagctcc	8	19	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34856777C>T	ENST00000431794.3	-	23	2792	c.2270G>A	c.(2269-2271)cGt>cAt	p.R757H	MYO19_ENST00000268852.9_Missense_Mutation_p.R557H	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	757	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R757H(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACCCGGGCACGCCCACATTC	0.662																																																	1	Substitution - Missense(1)	large_intestine(1)											21	25	24					17																	34856777		2121	4239	6360	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2270G>A	17.37:g.34856777C>T	ENSP00000409936:p.Arg757His		Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R757H	ENST00000431794.3	37	c.2270	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967170	0.92855	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.68181	-0.31;-0.31	5.12	5.12	0.69794	Myosin head, motor domain (1);	0.000000	0.38605	N	0.001627	D	0.83792	0.5331	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.915;0.999	D	0.86672	0.1911	10	0.87932	D	0	.	15.6285	0.76882	0.0:1.0:0.0:0.0	.	757;557	Q96H55;Q96H55-4	MYO19_HUMAN;.	H	757;557	ENSP00000409936:R757H;ENSP00000268852:R557H	ENSP00000268852:R557H	R	-	2	0	MYO19	31930890	0.997000	0.39634	0.993000	0.49108	0.832000	0.47134	6.319000	0.72871	2.532000	0.85374	0.462000	0.41574	CGT	MYO19	-	smart_Myosin_head_motor_dom		0.662	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	C	NM_025109		34856777	-1	no_errors	ENST00000431794	ensembl	human	known	70_37	missense	SNP	0.988	T	T	34856777	C	T	34856777	3	4	117	1	0	0	0	0	1	0	0	0	10090	536	19	2	658	2	MYO19	17	34856777	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	765668	34856777	46338433	1076	18544										
MYO19	80179	genome.wustl.edu	37	chr17	34856921	34856921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagctcaccatagagtcagtCatgaacaccttggtcctgcc	8	14	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34856921C>T	ENST00000431794.3	-	22	2757	c.2235G>A	c.(2233-2235)atG>atA	p.M745I	MYO19_ENST00000268852.9_Missense_Mutation_p.M545I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	745	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGAGTCAGTCATGAACACCT	0.602																																																	0													118	120	119					17																	34856921		2119	4245	6364	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2235G>A	17.37:g.34856921C>T	ENSP00000409936:p.Met745Ile		Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M745I	ENST00000431794.3	37	c.2235	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	C	4.295	0.053880	0.08291	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.94723	-3.5;-3.5	5.08	4.11	0.48088	Myosin head, motor domain (1);	0.131649	0.34386	N	0.004004	D	0.89653	0.6777	N	0.20685	0.6	0.80722	D	1	B;B	0.19583	0.037;0.001	B;B	0.17098	0.017;0.004	D	0.84135	0.0414	10	0.72032	D	0.01	.	15.1218	0.72450	0.1434:0.8566:0.0:0.0	.	745;545	Q96H55;Q96H55-4	MYO19_HUMAN;.	I	745;545	ENSP00000409936:M745I;ENSP00000268852:M545I	ENSP00000268852:M545I	M	-	3	0	MYO19	31931034	1.000000	0.71417	0.941000	0.38009	0.092000	0.18411	2.131000	0.42074	0.646000	0.30693	-2.048000	0.00412	ATG	MYO19	-	smart_Myosin_head_motor_dom		0.602	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	C	NM_025109		34856921	-1	no_errors	ENST00000431794	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34856921	C	T	34856921	3	4	117	1	0	0	0	0	1	0	0	0	10090	826	29	1	697	1	MYO19	17	34856921	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	144	34856921	46338289	1077	18545										
SYNRG	11276	genome.wustl.edu	37	chr17	35879064	35879064	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagagcaggtcaggcaggacGaggccaggaggctttggttc	17	9	1	1	rs572589591		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:35879064G>A	ENST00000339208.6	-	22	4064	c.3924C>T	c.(3922-3924)ctC>ctT	p.L1308L	SYNRG_ENST00000502449.2_Silent_p.L1173L|SYNRG_ENST00000345615.4_Silent_p.L1218L|SYNRG_ENST00000394378.2_Silent_p.L1253L|SYNRG_ENST00000585472.1_Silent_p.L1229L|SYNRG_ENST00000346661.4_Silent_p.L1296L|SYNRG_ENST00000591288.1_Silent_p.L1102L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1308					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGCAGGACGAGGCCAGGAG	0.512																																																	0													187	180	183					17																	35879064		2203	4300	6503	SO:0001819	synonymous_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3924C>T	17.37:g.35879064G>A			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.L1308	ENST00000339208.6	37	c.3924	CCDS11321.1	17																																																																																			SYNRG	-	NULL		0.512	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	G	NM_007247		35879064	-1	no_errors	ENST00000339208	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35879064	G	A	35879064	2	1	117	1	0	0	0	0	0	0	0	1	15490	1045	37	1		1	SYNRG	17	35879064	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1022143	35879064	45316146	1078	18546										
ERBB2	2064	genome.wustl.edu	37	chr17	37883623	37883623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtctccactggcaccctccGaaggggctggctccgatgta	13	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:37883623G>A	ENST00000269571.5	+	26	3394	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K	MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1064K|ERBB2_ENST00000445658.2_Missense_Mutation_p.E803K|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1049K|ERBB2_ENST00000406381.2_Missense_Mutation_p.E1049K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1049K			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1079					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGCACCCTCCGAAGGGGCTGG	0.617		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													33	38	36					17																	37883623		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3235G>A	17.37:g.37883623G>A	ENSP00000269571:p.Glu1079Lys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1079K	ENST00000269571.5	37	c.3235	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515097	0.27123	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75260	-0.92;-0.92;-0.9;-0.92;-0.92	5.41	4.38	0.52667	.	.	.	.	.	T	0.56016	0.1957	L	0.44542	1.39	0.50632	D	0.999884	P;P;D	0.53745	0.898;0.769;0.962	B;B;B	0.35353	0.201;0.158;0.178	T	0.58103	-0.7695	9	0.07644	T	0.81	.	9.7393	0.40409	0.0:0.1509:0.6932:0.1558	.	803;1064;1079	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	K	1049;1064;803;1079;1049	ENSP00000385185:E1049K;ENSP00000446466:E1064K;ENSP00000404047:E803K;ENSP00000269571:E1079K;ENSP00000443562:E1049K	ENSP00000269571:E1079K	E	+	1	0	ERBB2	35137149	0.004000	0.15560	0.960000	0.40013	0.444000	0.32077	0.914000	0.28624	2.515000	0.84797	0.561000	0.74099	GAA	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37883623	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.537	A	A	37883623	G	A	37883623	3	1	117	1	0	0	0	0	1	0	0	0	5218	1059	37	1	3337	1	ERBB2	17	37883623	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2004559	37883623	43311587	1079	18547										
TOP2A	7153	genome.wustl.edu	37	chr17	38562849	38562849	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tacaaacctttgtaatatttGactttccattttttatgatt	3	6	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:38562849G>C	ENST00000423485.1	-	15	1988	c.1830C>G	c.(1828-1830)gtC>gtG	p.V610V		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	610					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGTAATATTTGACTTTCCATT	0.313																																																	0													122	113	116					17																	38562849		1794	4068	5862	SO:0001819	synonymous_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1830C>G	17.37:g.38562849G>C			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.V610	ENST00000423485.1	37	c.1830	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_cen,smart_Topo_IIA,prints_Topo_IIA		0.313	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	G			38562849	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	silent	SNP	1.000	C	C	38562849	G	C	38562849	2	2	117	1	0	0	0	0	0	0	0	1	16396	1277	45	1		1	TOP2A	17	38562849	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	679226	38562849	42632361	1080	18548										
KRT10	3858	genome.wustl.edu	37	chr17	38978671	38978671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagagctcccacggctaaaaGagccaccactgaacccccct	7	18	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:38978671G>C	ENST00000269576.5	-	1	176	c.167C>G	c.(166-168)tCt>tGt	p.S56C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	56	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ACGGCTAAAAGAGCCACCACT	0.552																																																	0													71	78	75					17																	38978671		2203	4300	6503	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.167C>G	17.37:g.38978671G>C	ENSP00000269576:p.Ser56Cys		Q14664|Q8N175	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S56C	ENST00000269576.5	37	c.167	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970231	0.34754	.	.	ENSG00000186395	ENST00000269576	D	0.83163	-1.69	5.52	4.51	0.55191	.	0.000000	0.35805	N	0.002969	T	0.81399	0.4814	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.84593	0.0668	10	0.56958	D	0.05	.	14.7891	0.69827	0.0:0.2705:0.7295:0.0	.	56	P13645	K1C10_HUMAN	C	56	ENSP00000269576:S56C	ENSP00000269576:S56C	S	-	2	0	KRT10	36232197	0.889000	0.30405	0.991000	0.47740	0.450000	0.32258	1.926000	0.40084	2.588000	0.87417	0.603000	0.83216	TCT	KRT10	-	NULL		0.552	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	G	NM_000421		38978671	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	missense	SNP	0.992	C	C	38978671	G	C	38978671	3	2	117	1	0	0	0	0	1	0	0	0	8468	942	33	1	1619	1	KRT10	17	38978671	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	415822	38978671	42216539	1081	18549										
FKBP10	60681	genome.wustl.edu	37	chr17	39973375	39973375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctcatcactggcatggaccGaggcctcatgggcatgtgtg	13	12	3	0	rs142507953		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:39973375G>A	ENST00000321562.4	+	2	415	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	104	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCATGGACCGAGGCCTCATG	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		18970	0		0	False		,,,				2504	0																0								G	GLN/ARG	0,4406		0,0,2203	128	103	112		311	5.1	1	17	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	FKBP10	NM_021939.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	104/583	39973375	1,13005	2203	4300	6503	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.311G>A	17.37:g.39973375G>A	ENSP00000317232:p.Arg104Gln		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.R104Q	ENST00000321562.4	37	c.311	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122981	0.20959	0.0	1.16E-4	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.84873	-1.91;-1.91	5.13	5.13	0.70059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.083355	0.44902	D	0.000417	T	0.57961	0.2089	N	0.01134	-0.995	0.80722	D	1	P	0.43287	0.802	B	0.36845	0.234	T	0.70425	-0.4875	10	0.06236	T	0.91	-16.5979	13.9354	0.64021	0.0755:0.0:0.9244:0.0	.	104	Q96AY3	FKB10_HUMAN	Q	104;44;104;104	ENSP00000408232:R44Q;ENSP00000317232:R104Q	ENSP00000269598:R104Q	R	+	2	0	FKBP10	37226901	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.507000	0.60434	2.408000	0.81797	0.561000	0.74099	CGA	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.637	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	G	NM_021939		39973375	1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	0.999	A	A	39973375	G	A	39973375	3	1	117	1	0	0	0	0	1	0	0	0	5920	1058	37	1	317	1	FKBP10	17	39973375	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	994704	39973375	41221835	1082	18550										
NT5C3L	115024	genome.wustl.edu	37	chr17	39988679	39988679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtagcttctccttgacggtCcggtgtgggtcgatctcaat	13	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:39988679C>T	ENST00000435506.2	-	5	348	c.279G>A	c.(277-279)cgG>cgA	p.R93R	NT5C3B_ENST00000269534.8_Silent_p.R85R|NT5C3B_ENST00000521789.1_Silent_p.R60R			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	93					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CCTTGACGGTCCGGTGTGGGT	0.512																																																	0													198	144	162					17																	39988679		2203	4300	6503	SO:0001819	synonymous_variant	115024				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic III-like"	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.279G>A	17.37:g.39988679C>T			A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.R85	ENST00000435506.2	37	c.255	CCDS11410.2	17																																																																																			NT5C3L	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu		0.512	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NT5C3L	HGNC	protein_coding	OTTHUMT00000257430.2	C	NM_052935		39988679	-1	no_errors	ENST00000269534	ensembl	human	known	70_37	silent	SNP	0.002	T	T	39988679	C	T	39988679	2	4	117	1	0	0	0	0	0	0	0	1	10713	842	30	1		1	NT5C3L	17	39988679	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	15304	39988679	41206531	1083	18551										
KLHL11	55175	genome.wustl.edu	37	chr17	40010025	40010025	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgagagcttggcactcgcctCatgttcagggcgtgacgatg	14	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40010025C>T	ENST00000319121.3	-	2	2154	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	698										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GCACTCGCCTCATGTTCAGGG	0.498																																																	0													166	153	157					17																	40010025		2203	4300	6503	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.2094G>A	17.37:g.40010025C>T	ENSP00000314608:p.Met698Ile			Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.M698I	ENST00000319121.3	37	c.2094	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783817	0.31593	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.69435	-0.4	5.69	5.69	0.88448	.	0.060110	0.64402	D	0.000002	T	0.47967	0.1474	N	0.08118	0	0.42849	D	0.994078	B	0.06786	0.001	B	0.04013	0.001	T	0.46610	-0.9179	10	0.62326	D	0.03	-6.546	13.8457	0.63466	0.0:0.9208:0.0:0.0792	.	698	Q9NVR0	KLH11_HUMAN	I	698;561	ENSP00000314608:M698I	ENSP00000314608:M698I	M	-	3	0	KLHL11	37263551	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	1.236000	0.32683	2.831000	0.97527	0.650000	0.86243	ATG	KLHL11	-	NULL		0.498	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	HGNC	protein_coding	OTTHUMT00000257464.2	C	NM_018143		40010025	-1	no_errors	ENST00000319121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40010025	C	T	40010025	3	4	117	1	0	0	0	0	1	0	0	0	8387	826	29	1	36	1	KLHL11	17	40010025	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	21346	40010025	41185185	1084	18552										
TTC25	83538	genome.wustl.edu	37	chr17	40092735	40092735	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttccttgcaggtccttcttCcattaagctggagaacaaag	8	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40092735C>T	ENST00000591658.1	+	0	475							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGTCCTTCTTCCATTAAGCTG	0.512																																																	0													51	52	52					17																	40092735		1900	4105	6005			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40092735C>T			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559431	0.86335	.	.	ENSG00000204815	ENST00000377540	.	.	.	6.04	6.04	0.98038	.	0.468558	0.24256	N	0.040123	T	0.79828	0.4513	M	0.80616	2.505	0.39069	D	0.960688	D;D	0.76494	0.967;0.999	P;D	0.69142	0.798;0.962	T	0.82090	-0.0629	8	0.72032	D	0.01	-16.2869	15.993	0.80220	0.0:0.8663:0.1337:0.0	.	136;136	C9JGW6;Q96NG3	.;TTC25_HUMAN	F	136	.	ENSP00000366763:S136F	S	+	2	0	AC091172.1	37346261	0.995000	0.38212	0.991000	0.47740	0.974000	0.67602	3.304000	0.51866	2.873000	0.98535	0.561000	0.74099	TCC	TTC25	-	-		0.512	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	C	NM_031421		40092735	1	no_errors	ENST00000377540	ensembl	human	known	70_37	rna	SNP	0.997	T	T	40092735	C	T	40092735	1	4	117	0	1	0	0	0	0	0	0	0	16724	855	30	1		1	TTC25	17	40092735	RNA	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	82710	40092735	41102475	1085	18553										
EZH1	2145	genome.wustl.edu	37	chr17	40857136	40857136	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tattcagaaatgaattcgttCttctgcacagactcctttat	5	9	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40857136C>T	ENST00000428826.2	-	17	2026	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	EZH1_ENST00000590078.1_Silent_p.K565K|EZH1_ENST00000415827.2_Silent_p.K626K|EZH1_ENST00000585893.1_Silent_p.K595K|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Silent_p.K635K|EZH1_ENST00000435174.1_Silent_p.K496K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	635	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAATTCGTTCTTCTGCACAG	0.527																																																	0													96	90	92					17																	40857136		2203	4300	6503	SO:0001819	synonymous_variant	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1905G>A	17.37:g.40857136C>T			A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.K635	ENST00000428826.2	37	c.1905	CCDS32659.1	17																																																																																			EZH1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40857136	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40857136	C	T	40857136	2	4	117	1	0	0	0	0	0	0	0	1	5345	912	32	1		1	EZH1	17	40857136	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	764401	40857136	40338074	1086	18554										
WNK4	65266	genome.wustl.edu	37	chr17	40939478	40939478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcccccggtccccccagtgtCttcccccctgagcctgagga	10	20	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40939478C>T	ENST00000246914.5	+	7	1680	c.1659C>T	c.(1657-1659)gtC>gtT	p.V553V	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	553					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCCAGTGTCTTCCCCCCTG	0.612																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													117	117	117					17																	40939478		2203	4300	6503	SO:0001819	synonymous_variant	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1659C>T	17.37:g.40939478C>T			B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V553	ENST00000246914.5	37	c.1659	CCDS11439.1	17																																																																																			WNK4	-	NULL		0.612	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40939478	1	no_errors	ENST00000246914	ensembl	human	known	70_37	silent	SNP	0.906	T	T	40939478	C	T	40939478	2	4	117	1	0	0	0	0	0	0	0	1	17411	900	32	1		1	WNK4	17	40939478	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	82342	40939478	40255732	1087	18555										
CNTD1	124817	genome.wustl.edu	37	chr17	40956316	40956316	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagataataagagagagtctCagaattggagggctctgaaa	13	4	2	5	rs573823531		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40956316C>T	ENST00000588408.1	+	3	595	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	CNTD1_ENST00000588527.1_Nonsense_Mutation_p.Q24*	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	107	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGAGAGTCTCAGAATTGGAG	0.463																																																	0													124	117	120					17																	40956316		2203	4300	6503	SO:0001587	stop_gained	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.319C>T	17.37:g.40956316C>T	ENSP00000465204:p.Gln107*		Q658Q6|Q8NEP1	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.Q107*	ENST00000588408.1	37	c.319	CCDS11440.1	17	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368122	0.42003	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.23	2.87	0.33458	.	0.673105	0.15653	N	0.251271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.0462	5.283	0.15686	0.2085:0.5969:0.0:0.1946	.	.	.	.	X	107	.	ENSP00000316647:Q107X	Q	+	1	0	CNTD1	38209842	0.000000	0.05858	0.092000	0.20876	0.043000	0.13939	0.604000	0.24164	1.212000	0.43366	0.561000	0.74099	CAG	CNTD1	-	superfamily_Cyclin-like		0.463	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	C	NM_173478		40956316	1	no_errors	ENST00000588408	ensembl	human	known	70_37	nonsense	SNP	0.004	T	T	40956316	C	T	40956316	4	4	117	1	0	0	0	0	0	1	0	0	3640	827	29	1	329	1	CNTD1	17	40956316	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	16838	40956316	40238894	1088	18556										
RUNDC1	146923	genome.wustl.edu	37	chr17	41143001	41143001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atccctccaaccctgtggcaGagggtccaggctgacagaga	12	13	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41143001G>A	ENST00000361677.1	+	5	1122	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	370										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCTGTGGCAGAGGGTCCAGG	0.607																																																	0													48	43	45					17																	41143001		2203	4300	6503	SO:0001819	synonymous_variant	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1110G>A	17.37:g.41143001G>A			Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.Q370	ENST00000361677.1	37	c.1110	CCDS11448.1	17																																																																																			RUNDC1	-	NULL		0.607	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	G	NM_173079		41143001	1	no_errors	ENST00000361677	ensembl	human	known	70_37	silent	SNP	0.648	A	A	41143001	G	A	41143001	2	1	117	1	0	0	0	0	0	0	0	1	13772	933	33	1		1	RUNDC1	17	41143001	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	186685	41143001	40052209	1089	18557										
RUNDC1	146923	genome.wustl.edu	37	chr17	41143037	41143037	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agagactactctcccttgctGaagaggctggaggtgtcagt	13	9	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41143037G>T	ENST00000361677.1	+	5	1158	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	382										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCCCTTGCTGAAGAGGCTGG	0.567																																																	0													47	40	43					17																	41143037		2203	4300	6503	SO:0001819	synonymous_variant	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1146G>T	17.37:g.41143037G>T			Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.L382	ENST00000361677.1	37	c.1146	CCDS11448.1	17																																																																																			RUNDC1	-	NULL		0.567	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	G	NM_173079		41143037	1	no_errors	ENST00000361677	ensembl	human	known	70_37	silent	SNP	0.490	T	T	41143037	G	T	41143037	2	4	117	1	0	0	0	0	0	0	0	1	13772	1277	45	3		3	RUNDC1	17	41143037	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	36	41143037	40052173	1090	18558										
BRCA1	672	genome.wustl.edu	37	chr17	41246005	41246005	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgctttcttgataaaatcctCaggatgaaggcctgatgtag	10	7	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41246005C>G	ENST00000357654.3	-	10	1661	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	BRCA1_ENST00000354071.3_Missense_Mutation_p.E515Q|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E219Q|BRCA1_ENST00000493795.1_Missense_Mutation_p.E468Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E515Q|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E515Q|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	515					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATAAAATCCTCAGGATGAAGG	0.388			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													73	68	70					17																	41246005		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1543G>C	17.37:g.41246005C>G	ENSP00000350283:p.Glu515Gln		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E515Q	ENST00000357654.3	37	c.1543	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700283	0.48307	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000047	D	0.99302	0.9756	H	0.98996	4.395	0.39266	D	0.964299	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.984;0.984;0.999;0.991;0.994;0.996	D	0.98888	1.0772	10	0.87932	D	0	-14.7525	16.1808	0.81898	0.0:1.0:0.0:0.0	.	515;474;515;515;515;515	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	515;515;515;515;219;515;468;515;489	ENSP00000350283:E515Q;ENSP00000326002:E515Q;ENSP00000246907:E515Q;ENSP00000310938:E219Q;ENSP00000418960:E515Q;ENSP00000418775:E468Q;ENSP00000419274:E515Q;ENSP00000419988:E489Q	ENSP00000310938:E219Q	E	-	1	0	BRCA1	38499531	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	4.798000	0.62510	2.556000	0.86216	0.462000	0.41574	GAG	BRCA1	-	pirsf_BRCA1		0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41246005	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41246005	C	G	41246005	3	3	117	1	0	0	0	0	1	0	0	0	1501	835	29	1	4174	1	BRCA1	17	41246005	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	102968	41246005	39949205	1091	18559										
DHX8	1659	genome.wustl.edu	37	chr17	41584391	41584391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgtccatgacaatcagatCctgattgtcattggtgagac	10	10	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41584391C>G	ENST00000262415.3	+	13	1821	c.1749C>G	c.(1747-1749)atC>atG	p.I583M	DHX8_ENST00000540306.1_Missense_Mutation_p.I583M	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	583	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAATCAGATCCTGATTGTCA	0.428																																					NSCLC(56;1548 1661 49258 49987)												0													63	59	60					17																	41584391		2203	4300	6503	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1749C>G	17.37:g.41584391C>G	ENSP00000262415:p.Ile583Met			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I583M	ENST00000262415.3	37	c.1749	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158593	0.57368	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.14766	2.48;2.48	5.45	3.42	0.39159	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.91818	3.245	0.58432	D	0.999997	D;P	0.67145	0.996;0.815	D;P	0.65684	0.937;0.792	T	0.37798	-0.9690	10	0.72032	D	0.01	.	7.9519	0.30019	0.0:0.6843:0.0:0.3157	.	583;583	F5H658;Q14562	.;DHX8_HUMAN	M	583	ENSP00000437886:I583M;ENSP00000262415:I583M	ENSP00000262415:I583M	I	+	3	3	DHX8	38939917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.997000	0.29731	1.294000	0.44707	0.655000	0.94253	ATC	DHX8	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.428	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	C			41584391	1	no_errors	ENST00000262415	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41584391	C	G	41584391	3	3	117	1	0	0	0	0	1	0	0	0	4525	845	30	1	1799	1	DHX8	17	41584391	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	338386	41584391	39610819	1092	18560										
DHX8	1659	genome.wustl.edu	37	chr17	41585216	41585217	+	Missense_Mutation	DNP	TC	TC	CT													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acatgaagctgattgtcaccTcagccaccttggatgcagtg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41585216_41585217TC>CT	ENST00000262415.3	+	15	2221_2222	c.2149_2150TC>CT	c.(2149-2151)TCa>CTa	p.S717L	DHX8_ENST00000540306.1_Missense_Mutation_p.S717L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	717	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GATTGTCACCTCAGCCACCTTG	0.426																																					NSCLC(56;1548 1661 49258 49987)												0																																										SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		Exception_encountered	17.37:g.41585216_41585217delinsCT	ENSP00000262415:p.Ser717Leu			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S717P|p.S717L	ENST00000262415.3	37	c.2149|c.2150	CCDS11464.1	17																																																																																			DHX8	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.426	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	T|C			41585216|41585217	1	no_errors	ENST00000262415	ensembl	human	known	70_37	missense	SNP	0.997|1.000	C|T	CT	41585217	TC	CT	41585216	3	2	117	1	0	0	0	0	1	0	0	0	4525	1551	54	5	2207	5	DHX8	17	41585216	Missense_Mutation	DNP	TC	TCGA-EK-A3GK-01A-11D-A20U-09	825	41585216	39609994	1093	18561										
MPP3	4356	genome.wustl.edu	37	chr17	41888516	41888516	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cggcctcaaatgcttgcttaGacacaaagtgatattccact	7	11	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41888516G>A	ENST00000398389.4	-	17	1478	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	MPP3_ENST00000475450.1_5'Flank|MPP3_ENST00000398393.1_Missense_Mutation_p.S463F	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	438	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TGCTTGCTTAGACACAAAGTG	0.463																																																	0													128	122	124					17																	41888516		1932	4147	6079	SO:0001583	missense	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1313C>T	17.37:g.41888516G>A	ENSP00000381425:p.Ser438Phe		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S438F	ENST00000398389.4	37	c.1313	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500449	0.85176	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.22743	1.94;1.94	5.38	5.38	0.77491	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.056515	0.64402	D	0.000001	T	0.57460	0.2055	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.988	T	0.67393	-0.5682	10	0.87932	D	0	.	17.5023	0.87735	0.0:0.0:1.0:0.0	.	438;463	Q13368;D3DX46	MPP3_HUMAN;.	F	463;438	ENSP00000381430:S463F;ENSP00000381425:S438F	ENSP00000381425:S438F	S	-	2	0	MPP3	39244042	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	6.916000	0.75776	2.793000	0.96121	0.655000	0.94253	TCT	MPP3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.463	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	G	NM_001932		41888516	-1	no_errors	ENST00000398389	ensembl	human	known	70_37	missense	SNP	0.998	A	A	41888516	G	A	41888516	3	1	117	1	0	0	0	0	1	0	0	0	9758	942	33	1	460	1	MPP3	17	41888516	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	303300	41888516	39306694	1094	18562										
GRN	2896	genome.wustl.edu	37	chr17	42426636	42426636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcctgctgcctggaccccgGaggagccagctacagctgct	14	15	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:42426636G>A	ENST00000053867.3	+	2	166	c.104G>A	c.(103-105)gGa>gAa	p.G35E	GRN_ENST00000589265.1_Missense_Mutation_p.G35E	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	35					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGGACCCCGGAGGAGCCAGC	0.637																																																	0													49	43	45					17																	42426636		2203	4300	6503	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.104G>A	17.37:g.42426636G>A	ENSP00000053867:p.Gly35Glu		D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.G35E	ENST00000053867.3	37	c.104	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	g	14.37	2.515404	0.44763	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72835	-0.69	4.68	2.64	0.31445	.	0.419560	0.20944	N	0.082872	T	0.50786	0.1636	L	0.36672	1.1	0.20307	N	0.999911	B;P	0.38395	0.276;0.629	B;B	0.31390	0.098;0.129	T	0.33214	-0.9877	10	0.15952	T	0.53	-0.367	7.8438	0.29414	0.2078:0.0:0.7922:0.0	.	35;35	B4E1G5;P28799	.;GRN_HUMAN	E	35	ENSP00000053867:G35E	ENSP00000053867:G35E	G	+	2	0	GRN	39782162	0.991000	0.36638	0.956000	0.39512	0.961000	0.63080	0.958000	0.29227	1.105000	0.41606	0.457000	0.33378	GGA	GRN	-	NULL		0.637	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	G	NM_002087		42426636	1	no_errors	ENST00000053867	ensembl	human	known	70_37	missense	SNP	0.888	A	A	42426636	G	A	42426636	3	1	117	1	0	0	0	0	1	0	0	0	6824	1174	41	1	106	1	GRN	17	42426636	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	538120	42426636	38768574	1095	18563										
GPATCH8	23131	genome.wustl.edu	37	chr17	42477649	42477649	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggccttggagatggtcctttGaggagcttcctatatccttt	11	9	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:42477649G>C	ENST00000591680.1	-	8	1826	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.S521*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	599							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGGTCCTTTGAGGAGCTTCC	0.423											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42	45	44					17																	42477649		2201	4297	6498	SO:0001587	stop_gained	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1796C>G	17.37:g.42477649G>C	ENSP00000467556:p.Ser599*	909	B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.S599*	ENST00000591680.1	37	c.1796	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422179	0.83559	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.11	4.12	0.48240	.	0.517985	0.18785	N	0.131208	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.7965	10.8154	0.46573	0.0762:0.1403:0.7835:0.0	.	.	.	.	X	599;521	.	ENSP00000335486:S599X	S	-	2	0	GPATCH8	39833175	1.000000	0.71417	0.933000	0.37362	0.967000	0.64934	3.763000	0.55257	2.669000	0.90835	0.491000	0.48974	TCA	GPATCH8	-	NULL		0.423	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42477649	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	nonsense	SNP	0.110	C	C	42477649	G	C	42477649	4	2	117	1	0	0	0	0	0	1	0	0	6613	1294	45	1	2716	1	GPATCH8	17	42477649	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	51013	42477649	38717561	1096	18564										
GPATCH8	23131	genome.wustl.edu	37	chr17	42478741	42478741	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgtgccactatttgtagctGattcatctttatcatcttct	5	10	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:42478741G>C	ENST00000591680.1	-	8	734	c.704C>G	c.(703-705)tCa>tGa	p.S235*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.S157*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	235							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTTGTAGCTGATTCATCTTT	0.443																																																	0													132	134	133					17																	42478741		2203	4300	6503	SO:0001587	stop_gained	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.704C>G	17.37:g.42478741G>C	ENSP00000467556:p.Ser235*		B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.S235*	ENST00000591680.1	37	c.704	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871048	0.72065	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.65	5.65	0.86999	.	0.173446	0.36972	N	0.002305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.3	12.9944	0.58638	0.0739:0.0:0.9261:0.0	.	.	.	.	X	235;157	.	ENSP00000335486:S235X	S	-	2	0	GPATCH8	39834267	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.578000	0.67450	2.654000	0.90174	0.557000	0.71058	TCA	GPATCH8	-	NULL		0.443	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42478741	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	nonsense	SNP	0.936	C	C	42478741	G	C	42478741	4	2	117	1	0	0	0	0	0	1	0	0	6613	1294	45	1	3808	1	GPATCH8	17	42478741	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1092	42478741	38716469	1097	18565										
HEXIM1	10614	genome.wustl.edu	37	chr17	43226681	43226681	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgcggaggagcgggtgcccGaggaggacagtaggtggcaa	21	8	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:43226681G>C	ENST00000332499.2	+	1	1998	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	42					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGTGCCCGAGGAGGACAG	0.642											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	57	56					17																	43226681		2203	4300	6503	SO:0001583	missense	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.124G>C	17.37:g.43226681G>C	ENSP00000328773:p.Glu42Gln	914	B2R8Y5	Missense_Mutation	SNP	NULL	p.E42Q	ENST00000332499.2	37	c.124	CCDS11495.1	17	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517880	0.27211	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.25	0.363	0.16118	.	1.606800	0.04252	N	0.338867	T	0.27027	0.0662	N	0.22421	0.69	0.24885	N	0.992201	B	0.09022	0.002	B	0.09377	0.004	T	0.13415	-1.0510	9	0.27082	T	0.32	-3.2331	3.5461	0.07829	0.3026:0.1999:0.4975:0.0	.	42	O94992	HEXI1_HUMAN	Q	42	.	ENSP00000328773:E42Q	E	+	1	0	HEXIM1	40582464	0.959000	0.32827	0.965000	0.40720	0.984000	0.73092	0.693000	0.25497	-0.064000	0.13043	0.561000	0.74099	GAG	HEXIM1	-	NULL		0.642	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM1	HGNC	protein_coding	OTTHUMT00000449821.2	G	NM_006460		43226681	1	no_errors	ENST00000332499	ensembl	human	known	70_37	missense	SNP	0.984	C	C	43226681	G	C	43226681	3	2	117	1	0	0	0	0	1	0	0	0	7096	1059	37	1	126	1	HEXIM1	17	43226681	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	747940	43226681	37968529	1098	18566										
MAP3K14	9020	genome.wustl.edu	37	chr17	43350897	43350897	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaggactttcccaggccatCaggttgaagacacacagcat	9	12	1	2	rs191157690		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:43350897C>G	ENST00000344686.2	-	0	1735							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCAGGCCATCAGGTTGAAGA	0.602																																																	0													28	30	29					17																	43350897		2065	4186	6251			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43350897C>G			A8K2D8|D3DX67|Q8IYN1	RNA	SNP	-	NULL	ENST00000344686.2	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537864	0.45176	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.71	-0.0719	0.13742	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.346453	0.32028	N	0.006698	T	0.43875	0.1267	L	0.56769	1.78	0.42425	D	0.992656	B;B	0.21225	0.053;0.037	B;B	0.26864	0.074;0.028	T	0.45011	-0.9290	8	0.52906	T	0.07	.	6.3917	0.21591	0.0:0.5491:0.2437:0.2072	.	544;74	Q99558;Q6ZMZ1	M3K14_HUMAN;.	H	543;327	.	ENSP00000342059:D543H	D	-	1	0	MAP3K14	40706680	0.033000	0.19621	0.085000	0.20634	0.990000	0.78478	1.033000	0.30191	0.069000	0.16605	0.561000	0.74099	GAT	MAP3K14	-	-		0.602	MAP3K14-201	KNOWN	basic	processed_transcript	MAP3K14	HGNC	processed_transcript		C	NM_003954		43350897	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	0.610	G	G	43350897	C	G	43350897	1	3	117	0	1	0	0	0	0	0	0	0	9271	826	29	1		1	MAP3K14	17	43350897	RNA	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	124216	43350897	37844313	1099	18567										
ARHGAP27	201176	genome.wustl.edu	37	chr17	43474289	43474289	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccttgcgcacacctgcattCggtcgcgcgtcctcctcttt	9	17	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:43474289C>T	ENST00000428638.1	-	11	1943	c.1944G>A	c.(1942-1944)ccG>ccA	p.P648P	ARHGAP27_ENST00000442348.1_Silent_p.P621P|ARHGAP27_ENST00000376922.2_Silent_p.P307P|ARHGAP27_ENST00000532038.1_Silent_p.P426P|ARHGAP27_ENST00000532891.2_Silent_p.P626P|ARHGAP27_ENST00000528384.1_Silent_p.P280P|ARHGAP27_ENST00000582826.1_5'Flank|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000455881.1_Silent_p.P307P			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	648					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCTGCATTCGGTCGCGCGT	0.692																																																	0													64	57	59					17																	43474289		2203	4300	6503	SO:0001819	synonymous_variant	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1944G>A	17.37:g.43474289C>T			A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.P648	ENST00000428638.1	37	c.1944		17																																																																																			ARHGAP27	-	NULL		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		C	NM_199282		43474289	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43474289	C	T	43474289	2	4	117	1	0	0	0	0	0	0	0	1	876	871	31	1		1	ARHGAP27	17	43474289	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	123392	43474289	37720921	1100	18568										
NPEPPS	9520	genome.wustl.edu	37	chr17	45608819	45608819	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgccggagaagaggcccttCgagcggctgcctgccgatgt	15	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:45608819C>G	ENST00000322157.4	+	1	390	c.153C>G	c.(151-153)ttC>ttG	p.F51L	NPEPPS_ENST00000544660.1_Missense_Mutation_p.F7L|NPEPPS_ENST00000530173.1_Missense_Mutation_p.F47L|NPEPPS_ENST00000525037.1_Intron	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	51					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGAGGCCCTTCGAGCGGCTGC	0.687																																																	0																																										SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.153C>G	17.37:g.45608819C>G	ENSP00000320324:p.Phe51Leu		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F51L	ENST00000322157.4	37	c.153	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508473	0.44660	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000544660	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	2.46	2.46	0.29980	.	0.135690	0.50627	U	0.000116	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B;B;P	0.41848	0.233;0.029;0.763	B;B;P	0.48454	0.105;0.041;0.578	T	0.56932	-0.7897	10	0.11485	T	0.65	.	11.7159	0.51653	0.0:1.0:0.0:0.0	.	51;47;51	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	L	38;47;51;7	ENSP00000437019:F38L;ENSP00000433287:F47L;ENSP00000320324:F51L;ENSP00000442461:F7L	ENSP00000320324:F51L	F	+	3	2	NPEPPS	42963818	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.145000	0.50623	1.202000	0.43218	0.478000	0.44815	TTC	NPEPPS	-	NULL		0.687	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	C	NM_006310		45608819	1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45608819	C	G	45608819	3	3	117	1	0	0	0	0	1	0	0	0	10599	883	31	1	155	1	NPEPPS	17	45608819	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2134530	45608819	35586391	1101	18569										
SKAP1	8631	genome.wustl.edu	37	chr17	46214610	46214610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgggtttcatctttcttcCacttcaaaggcagtggtgag	10	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:46214610C>T	ENST00000336915.6	-	12	1137	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	SKAP1_ENST00000584924.1_Silent_p.V356V	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	356					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATCTTTCTTCCACTTCAAAGG	0.453																																																	0													147	132	137					17																	46214610		2203	4300	6503	SO:0001819	synonymous_variant	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.1068G>A	17.37:g.46214610C>T			D3DTV1|O15268	Silent	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.V356	ENST00000336915.6	37	c.1068	CCDS32674.1	17																																																																																			SKAP1	-	NULL		0.453	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	HGNC	protein_coding	OTTHUMT00000443432.1	C	NM_003726		46214610	-1	no_errors	ENST00000336915	ensembl	human	known	70_37	silent	SNP	0.988	T	T	46214610	C	T	46214610	2	4	117	1	0	0	0	0	0	0	0	1	14385	581	21	4		4	SKAP1	17	46214610	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	605791	46214610	34980600	1102	18570										
HOXB4	3214	genome.wustl.edu	37	chr17	46655232	46655232	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccacgcactcacccgtgctCacgtgaactttgcgcatcca	7	18	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:46655232C>T	ENST00000332503.5	-	1	2241	c.450G>A	c.(448-450)gtG>gtA	p.V150V	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000460160.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	150					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CACCCGTGCTCACGTGAACTT	0.687																																																	0													22	25	24					17																	46655232		2164	4215	6379	SO:0001819	synonymous_variant	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.450G>A	17.37:g.46655232C>T			Q9NTA0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.V150	ENST00000332503.5	37	c.450	CCDS11529.1	17																																																																																			HOXB4	-	NULL		0.687	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB4	HGNC	protein_coding	OTTHUMT00000358259.2	C			46655232	-1	no_errors	ENST00000332503	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46655232	C	T	46655232	2	4	117	1	0	0	0	0	0	0	0	1	7323	813	29	1		1	HOXB4	17	46655232	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	440622	46655232	34539978	1103	18571										
DLX4	1748	genome.wustl.edu	37	chr17	48051296	48051296	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagatgtcctggcttcgcctCagatgatgtgaatctgggga	13	9	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:48051296C>T	ENST00000240306.3	+	3	1007	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	DLX4_ENST00000411890.2_Nonsense_Mutation_p.Q166*	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	238					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GGCTTCGCCTCAGATGATGTG	0.612																																																	0													37	38	37					17																	48051296		2203	4300	6503	SO:0001587	stop_gained	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.712C>T	17.37:g.48051296C>T	ENSP00000240306:p.Gln238*		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.Q238*	ENST00000240306.3	37	c.712	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.241497	0.97403	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.26820	N	0.968812	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6432	11.2101	0.48793	0.0:0.8148:0.1852:0.0	.	.	.	.	X	238;166	.	ENSP00000240306:Q238X	Q	+	1	0	DLX4	45406295	0.995000	0.38212	0.987000	0.45799	0.804000	0.45430	4.429000	0.59901	2.493000	0.84123	0.561000	0.74099	CAG	DLX4	-	NULL		0.612	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	C			48051296	1	no_errors	ENST00000240306	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48051296	C	T	48051296	4	4	117	1	0	0	0	0	0	1	0	0	4583	827	29	1	789	1	DLX4	17	48051296	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1396064	48051296	33143914	1104	18572										
PPP1R9B	84687	genome.wustl.edu	37	chr17	48227731	48227731	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggacgttggagccatatttCttgtggtgggcccccttggg	15	9	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:48227731C>G	ENST00000316878.6	-	1	146	c.144G>C	c.(142-144)aaG>aaC	p.K48N	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	48	Actin-binding. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGCCATATTTCTTGTGGTGGG	0.736																																																	0													4	5	4					17																	48227731		659	1581	2240	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.144G>C	17.37:g.48227731C>G	ENSP00000475417:p.Lys48Asn		Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-		0.736	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		C	NM_032595		48227731	-1	no_errors	ENST00000316878	ensembl	human	known	70_37	rna	SNP	1.000	G	G	48227731	C	G	48227731	3	3	117	1	0	0	0	0	1	0	0	0	12406	912	32	1	2345	1	PPP1R9B	17	48227731	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	176435	48227731	32967479	1105	18573										
STXBP4	252983	genome.wustl.edu	37	chr17	53150360	53150360	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atggaatggaaatggactatGaagaagtgatccgtctgtta	12	4	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:53150360G>A	ENST00000376352.2	+	13	1318	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	STXBP4_ENST00000434978.2_Missense_Mutation_p.E349K	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	371					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATGGACTATGAAGAAGTGAT	0.448																																																	0													126	115	119					17																	53150360		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1111G>A	17.37:g.53150360G>A	ENSP00000365530:p.Glu371Lys		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E371K	ENST00000376352.2	37	c.1111	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	35	5.456993	0.96223	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.58358	0.34;0.34	5.57	5.57	0.84162	.	0.051957	0.85682	D	0.000000	T	0.74230	0.3689	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72338	0.952;0.977	T	0.77189	-0.2679	10	0.87932	D	0	-6.7789	18.5196	0.90947	0.0:0.0:1.0:0.0	.	349;371	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	K	371;349	ENSP00000365530:E371K;ENSP00000391087:E349K	ENSP00000365530:E371K	E	+	1	0	STXBP4	50505359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.593000	0.87608	0.650000	0.86243	GAA	STXBP4	-	NULL		0.448	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53150360	1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53150360	G	A	53150360	3	1	117	1	0	0	0	0	1	0	0	0	15385	1291	45	1	1153	1	STXBP4	17	53150360	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4922629	53150360	28044850	1106	18574										
MKS1	54903	genome.wustl.edu	37	chr17	56295993	56295993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacccactggcagttggctGaggcctaaaagtggccaagt	12	11	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:56295993G>T	ENST00000393119.2	-	2	252	c.178C>A	c.(178-180)Cag>Aag	p.Q60K	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000537529.2_Missense_Mutation_p.Q50K|MKS1_ENST00000313863.6_Missense_Mutation_p.Q60K|MKS1_ENST00000337050.7_Missense_Mutation_p.Q60K|LPO_ENST00000582328.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	60					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGTTGGCTGAGGCCTAAAA	0.448																																																	0													85	82	83					17																	56295993		1980	4161	6141	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.178C>A	17.37:g.56295993G>T	ENSP00000376827:p.Gln60Lys		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.Q60K	ENST00000393119.2	37	c.178	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709183	0.30322	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050	T;T;T;T	0.67698	-0.28;1.56;-0.24;-0.0	5.65	3.54	0.40534	.	1.434490	0.05007	U	0.470243	T	0.44244	0.1284	N	0.08118	0	0.20926	N	0.999822	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.34950	-0.9808	10	0.09084	T	0.74	-6.2187	7.089	0.25273	0.0906:0.1734:0.736:0.0	.	60;60	A8MPP8;Q9NXB0	.;MKS1_HUMAN	K	50;60;60;60	ENSP00000442096:Q50K;ENSP00000376828:Q60K;ENSP00000376827:Q60K;ENSP00000338407:Q60K	ENSP00000338407:Q60K	Q	-	1	0	MKS1	53650992	0.887000	0.30362	0.597000	0.28824	0.964000	0.63967	2.243000	0.43115	1.388000	0.46506	0.643000	0.83706	CAG	MKS1	-	NULL		0.448	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	G	NM_017777		56295993	-1	no_errors	ENST00000393119	ensembl	human	known	70_37	missense	SNP	0.109	T	T	56295993	G	T	56295993	3	4	117	1	0	0	0	0	1	0	0	0	9632	1299	45	3	1569	3	MKS1	17	56295993	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3145633	56295993	24899217	1107	18575										
LPO	4025	genome.wustl.edu	37	chr17	56329551	56329551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctctctgcagttcccaccCaatgaccccaaggcggggac	9	17	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:56329551C>T	ENST00000262290.4	+	8	1105	c.789C>T	c.(787-789)ccC>ccT	p.P263P	LPO_ENST00000543544.1_Silent_p.P204P|LPO_ENST00000421678.2_Silent_p.P180P|LPO_ENST00000582328.1_Silent_p.P180P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	263					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGTTCCCACCCAATGACCCCA	0.602																																																	0													68	60	63					17																	56329551		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.789C>T	17.37:g.56329551C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P263	ENST00000262290.4	37	c.789	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.602	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56329551	1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	0.000	T	T	56329551	C	T	56329551	2	4	117	1	0	0	0	0	0	0	0	1	8945	581	21	4		4	LPO	17	56329551	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	33558	56329551	24865659	1108	18576										
PPM1E	22843	genome.wustl.edu	37	chr17	57050206	57050206	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtttaggatgaaaagcagaGaattgaggcccttggaggtt	14	4	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:57050206G>C	ENST00000308249.2	+	6	1259	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAAAGCAGAGAATTGAGGCC	0.383																																																	0													205	195	198					17																	57050206		2203	4300	6503	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1130G>C	17.37:g.57050206G>C	ENSP00000312411:p.Arg377Thr		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R377T	ENST00000308249.2	37	c.1130	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.085491	0.94100	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.61392	0.11	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.88645	0.3178	10	0.87932	D	0	-0.6476	19.5757	0.95441	0.0:0.0:1.0:0.0	.	386;377	Q8WY54-3;Q8WY54-2	.;.	T	377;228	ENSP00000312411:R377T	ENSP00000312411:R377T	R	+	2	0	PPM1E	54404988	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.612000	0.88384	0.563000	0.77884	AGA	PPM1E	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.383	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	G	NM_014906		57050206	1	no_errors	ENST00000308249	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57050206	G	C	57050206	3	2	117	1	0	0	0	0	1	0	0	0	12365	942	33	1	1152	1	PPM1E	17	57050206	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	720655	57050206	24145004	1109	18577										
CLTC	1213	genome.wustl.edu	37	chr17	57724983	57724983	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agattatcaattaccgtacaGatgcaaaacaaaagtggtta	7	6	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:57724983G>T	ENST00000269122.3	+	3	749	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	CLTC_ENST00000393043.1_Missense_Mutation_p.D159Y|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	159	Globular terminal domain.|WD40-like repeat 4.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTACCGTACAGATGCAAAACA	0.408			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													129	122	124					17																	57724983		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.475G>T	17.37:g.57724983G>T	ENSP00000269122:p.Asp159Tyr		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D159Y	ENST00000269122.3	37	c.475	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044153	0.55110	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.28255	1.62;1.62	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.89287	3.02	0.80722	D	1	D;P	0.89917	1.0;0.913	D;P	0.91635	0.999;0.906	T	0.70691	-0.4802	10	0.87932	D	0	.	20.0411	0.97590	0.0:0.0:1.0:0.0	.	159;159	Q00610;Q00610-2	CLH1_HUMAN;.	Y	159	ENSP00000269122:D159Y;ENSP00000376763:D159Y	ENSP00000269122:D159Y	D	+	1	0	CLTC	55079765	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	9.869000	0.99810	2.739000	0.93911	0.655000	0.94253	GAT	CLTC	-	pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	G	NM_004859		57724983	1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57724983	G	T	57724983	3	4	117	1	0	0	0	0	1	0	0	0	3571	942	33	3	485	3	CLTC	17	57724983	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	674777	57724983	23470227	1110	18578										
TMEM49	81671	genome.wustl.edu	37	chr17	57851201	57851201	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgaaccagatgatgaagaGtatcaggaatttgaagagat	12	4	1	7			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:57851201G>C	ENST00000262291.4	+	7	979	c.669G>C	c.(667-669)gaG>gaC	p.E223D	VMP1_ENST00000539763.1_Missense_Mutation_p.E31D|VMP1_ENST00000545362.1_Missense_Mutation_p.E167D|VMP1_ENST00000536180.1_Missense_Mutation_p.E126D|VMP1_ENST00000537567.1_Missense_Mutation_p.E89D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	223					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ATGATGAAGAGTATCAGGAAT	0.458																																																	0													83	80	81					17																	57851201		2203	4300	6503	SO:0001583	missense	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.669G>C	17.37:g.57851201G>C	ENSP00000262291:p.Glu223Asp		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	NULL	p.E223D	ENST00000262291.4	37	c.669	CCDS11619.1	17	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348433	0.41599	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	T;T;T	0.45668	0.89;0.89;0.89	5.93	-3.89	0.04193	.	0.094278	0.64402	N	0.000001	T	0.15003	0.0362	N	0.04373	-0.215	0.53005	D	0.999969	B;B;B;B	0.16396	0.017;0.003;0.007;0.003	B;B;B;B	0.23275	0.045;0.007;0.015;0.012	T	0.08868	-1.0701	10	0.17832	T	0.49	-2.0162	7.3514	0.26693	0.4709:0.1991:0.3299:0.0	.	89;126;167;223	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	D	223;89;31;126;167	ENSP00000262291:E223D;ENSP00000445130:E89D;ENSP00000444969:E126D	ENSP00000262291:E223D	E	+	3	2	VMP1	55205983	0.351000	0.24887	0.953000	0.39169	0.995000	0.86356	-0.206000	0.09398	-0.614000	0.05687	0.563000	0.77884	GAG	VMP1	-	NULL		0.458	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	G	NM_030938		57851201	1	no_errors	ENST00000262291	ensembl	human	known	70_37	missense	SNP	0.794	C	C	57851201	G	C	57851201	3	2	117	1	0	0	0	0	1	0	0	0	16203	1020	36	4	691	4	TMEM49	17	57851201	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	126218	57851201	23344009	1111	18579										
MED13	9969	genome.wustl.edu	37	chr17	60038445	60038445	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcataaagtcgaatacactCtggtctctataaaataaaaa	5	7	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60038445C>T	ENST00000397786.2	-	23	5339	c.5263G>A	c.(5263-5265)Gag>Aag	p.E1755K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1755					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGAATACACTCTGGTCTCTAT	0.313																																																	0													64	56	58					17																	60038445		1806	4064	5870	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5263G>A	17.37:g.60038445C>T	ENSP00000380888:p.Glu1755Lys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E1755K	ENST00000397786.2	37	c.5263	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321641	0.81580	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82711	-1.64	5.16	5.16	0.70880	.	0.096228	0.64402	D	0.000001	T	0.78972	0.4368	N	0.25647	0.755	0.80722	D	1	P	0.45348	0.856	P	0.48454	0.578	T	0.74604	-0.3610	10	0.09590	T	0.72	0.3008	18.6541	0.91441	0.0:1.0:0.0:0.0	.	1755	Q9UHV7	MED13_HUMAN	K	1755;1754	ENSP00000380888:E1755K	ENSP00000262436:E1754K	E	-	1	0	MED13	57393227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.400000	0.79949	2.409000	0.81822	0.650000	0.86243	GAG	MED13	-	pfam_Mediator_Med13		0.313	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60038445	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60038445	C	T	60038445	3	4	117	1	0	0	0	0	1	0	0	0	9453	922	32	1	1293	1	MED13	17	60038445	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2187244	60038445	21156765	1112	18580										
MED13	9969	genome.wustl.edu	37	chr17	60039092	60039092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaatgctggggatagatttCtctatcttcatgcttcacag	8	8	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60039092C>T	ENST00000397786.2	-	22	5189	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1705					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGATAGATTTCTCTATCTTCA	0.393																																																	0													134	134	134					17																	60039092		1819	4075	5894	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5113G>A	17.37:g.60039092C>T	ENSP00000380888:p.Glu1705Lys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E1705K	ENST00000397786.2	37	c.5113	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159433	0.21454	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.81821	-1.54	5.3	4.33	0.51752	.	0.166101	0.53938	D	0.000046	T	0.62356	0.2421	N	0.03608	-0.345	0.34710	D	0.727689	B	0.12013	0.005	B	0.19391	0.025	T	0.62305	-0.6882	10	0.24483	T	0.36	-27.6859	16.0079	0.80374	0.0:0.137:0.863:0.0	.	1705	Q9UHV7	MED13_HUMAN	K	1705;1704	ENSP00000380888:E1705K	ENSP00000262436:E1704K	E	-	1	0	MED13	57393874	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.340000	0.65958	1.240000	0.43803	-0.226000	0.12346	GAA	MED13	-	pfam_Mediator_Med13		0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60039092	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60039092	C	T	60039092	3	4	117	1	0	0	0	0	1	0	0	0	9453	922	32	1	1447	1	MED13	17	60039092	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	647	60039092	21156118	1113	18581										
MED13	9969	genome.wustl.edu	37	chr17	60059745	60059745	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttaggaaaaggatcttggtCtgctgctccaaagggtgaaa	12	6	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60059745C>G	ENST00000397786.2	-	16	3695	c.3619G>C	c.(3619-3621)Gac>Cac	p.D1207H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1207					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGATCTTGGTCTGCTGCTCCA	0.388																																																	0													130	117	121					17																	60059745		1911	4138	6049	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3619G>C	17.37:g.60059745C>G	ENSP00000380888:p.Asp1207His		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1207H	ENST00000397786.2	37	c.3619	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434247	0.62955	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74002	-0.8	5.74	5.74	0.90152	.	0.044361	0.85682	D	0.000000	T	0.76659	0.4018	N	0.20766	0.605	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.73260	-0.4039	10	0.24483	T	0.36	-18.9809	19.9196	0.97082	0.0:1.0:0.0:0.0	.	1207	Q9UHV7	MED13_HUMAN	H	1207;1206	ENSP00000380888:D1207H	ENSP00000262436:D1206H	D	-	1	0	MED13	57414527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.708000	0.92522	0.650000	0.86243	GAC	MED13	-	NULL		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60059745	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60059745	C	G	60059745	3	3	117	1	0	0	0	0	1	0	0	0	9453	913	32	1	2965	1	MED13	17	60059745	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	20653	60059745	21135465	1114	18582										
MED13	9969	genome.wustl.edu	37	chr17	60059974	60059974	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgtttccaaattttctgttCatgacagcactgaagccaca	6	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60059974C>T	ENST00000397786.2	-	16	3466	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1130					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTTCTGTTCATGACAGCAC	0.403																																																	0													148	135	139					17																	60059974		1908	4122	6030	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3390G>A	17.37:g.60059974C>T	ENSP00000380888:p.Met1130Ile		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.M1130I	ENST00000397786.2	37	c.3390	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845799	0.51164	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74315	-0.83	5.83	5.83	0.93111	.	0.039821	0.85682	D	0.000000	T	0.70859	0.3272	L	0.48642	1.525	0.58432	D	0.999995	B	0.28178	0.202	B	0.20955	0.032	T	0.68209	-0.5469	10	0.59425	D	0.04	-12.8874	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1130	Q9UHV7	MED13_HUMAN	I	1130;1129	ENSP00000380888:M1130I	ENSP00000262436:M1129I	M	-	3	0	MED13	57414756	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.730000	0.62015	2.755000	0.94549	0.650000	0.86243	ATG	MED13	-	NULL		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60059974	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60059974	C	T	60059974	3	4	117	1	0	0	0	0	1	0	0	0	9453	826	29	1	3194	1	MED13	17	60059974	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	229	60059974	21135236	1115	18583										
MED13	9969	genome.wustl.edu	37	chr17	60060246	60060246	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaagctggtgaatacaagtCtgaattttcatatttgactg	9	5	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60060246C>G	ENST00000397786.2	-	16	3194	c.3118G>C	c.(3118-3120)Gac>Cac	p.D1040H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1040					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAATACAAGTCTGAATTTTCA	0.493																																																	0													87	87	87					17																	60060246		1946	4132	6078	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3118G>C	17.37:g.60060246C>G	ENSP00000380888:p.Asp1040His		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1040H	ENST00000397786.2	37	c.3118	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274281	0.80580	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75938	-0.98	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84544	0.0640	10	0.72032	D	0.01	-18.0896	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1040	Q9UHV7	MED13_HUMAN	H	1040;1039	ENSP00000380888:D1040H	ENSP00000262436:D1039H	D	-	1	0	MED13	57415028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.760000	0.94817	0.655000	0.94253	GAC	MED13	-	NULL		0.493	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60060246	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60060246	C	G	60060246	3	3	117	1	0	0	0	0	1	0	0	0	9453	913	32	1	3466	1	MED13	17	60060246	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	272	60060246	21134964	1116	18584										
METTL2A	339175	genome.wustl.edu	37	chr17	60505165	60505165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcaggttggctgtggtgtggGaaacacagtctttccaattt	13	7	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60505165G>A	ENST00000311506.5	+	4	611	c.575G>A	c.(574-576)gGa>gAa	p.G192E		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	192					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGTGGTGTGGGAAACACAGTC	0.358																																																	0													52	54	53					17																	60505165		2201	4297	6498	SO:0001583	missense	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.575G>A	17.37:g.60505165G>A	ENSP00000309610:p.Gly192Glu		A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.G192E	ENST00000311506.5	37	c.575	CCDS45752.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.572747|4.572747	0.86542|0.86542	.|.	.|.	ENSG00000087995|ENSG00000087995	ENST00000333483|ENST00000311506	.|T	.|0.26223	.|1.75	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Methyltransferase type 12 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55657|0.55657	0.1934|0.1934	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.62996|0.62996	-0.6735|-0.6735	6|10	0.36615|0.87932	T|D	0.2|0	-2.0466|-2.0466	16.971|16.971	0.86300|0.86300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|Q96IZ6	.|MTL2A_HUMAN	K|E	191|192	.|ENSP00000309610:G192E	ENSP00000331401:E191K|ENSP00000309610:G192E	E|G	+|+	1|2	0|0	METTL2A|METTL2A	57858897|57858897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.507000|9.507000	0.97996|0.97996	2.425000|2.425000	0.82216|0.82216	0.484000|0.484000	0.47621|0.47621	GAA|GGA	METTL2A	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd		0.358	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	HGNC	protein_coding	OTTHUMT00000445130.1	G	NM_181725		60505165	1	no_errors	ENST00000311506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	60505165	G	A	60505165	3	1	117	1	0	0	0	0	1	0	0	0	9522	1174	41	1	589	1	METTL2A	17	60505165	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	444919	60505165	20690045	1117	18585										
MRC2	9902	genome.wustl.edu	37	chr17	60742246	60742246	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acccttgagcgtggtgaccaGacccgcagtggccagtggcg	15	13	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60742246G>C	ENST00000303375.5	+	2	858	c.456G>C	c.(454-456)caG>caC	p.Q152H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	152	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTGGTGACCAGACCCGCAGTG	0.657																																																	0													52	51	51					17																	60742246		2203	4300	6503	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.456G>C	17.37:g.60742246G>C	ENSP00000307513:p.Gln152His		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.Q152H	ENST00000303375.5	37	c.456	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493742	0.44352	.	.	ENSG00000011028	ENST00000303375	T	0.05717	3.4	5.23	4.24	0.50183	Ricin B-related lectin (1);Ricin B lectin (1);	0.414724	0.25881	N	0.027682	T	0.07593	0.0191	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.45913	0.497	T	0.23691	-1.0181	10	0.46703	T	0.11	-15.947	6.6771	0.23100	0.1513:0.1509:0.6977:0.0	.	152	Q9UBG0	MRC2_HUMAN	H	152	ENSP00000307513:Q152H	ENSP00000307513:Q152H	Q	+	3	2	MRC2	58095978	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.919000	0.40015	1.171000	0.42768	0.561000	0.74099	CAG	MRC2	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin		0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	G			60742246	1	no_errors	ENST00000303375	ensembl	human	known	70_37	missense	SNP	0.986	C	C	60742246	G	C	60742246	3	2	117	1	0	0	0	0	1	0	0	0	9781	933	33	1	462	1	MRC2	17	60742246	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	237081	60742246	20452964	1118	18586										
MRC2	9902	genome.wustl.edu	37	chr17	60751508	60751508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctgagccagggggccgccGaggaggaccatggctgccgg	19	12	0	1	rs370162640		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60751508G>A	ENST00000303375.5	+	9	1948	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	516					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGGGCCGCCGAGGAGGACCA	0.642																																																	0								G	LYS/GLU	0,4336		0,0,2168	27	22	24		1546	5.5	0.7	17		24	2,8470		0,2,4234	no	missense	MRC2	NM_006039.3	56	0,2,6402	AA,AG,GG		0.0236,0.0,0.0156	possibly-damaging	516/1480	60751508	2,12806	2168	4236	6404	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1546G>A	17.37:g.60751508G>A	ENSP00000307513:p.Glu516Lys		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.E516K	ENST00000303375.5	37	c.1546	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501549	0.44455	0.0	2.36E-4	ENSG00000011028	ENST00000303375	T	0.06068	3.35	5.46	5.46	0.80206	C-type lectin-like (1);	0.423819	0.22627	N	0.057623	T	0.06188	0.0160	L	0.45137	1.4	0.80722	D	1	P	0.36483	0.555	B	0.23716	0.048	T	0.42699	-0.9436	10	0.10377	T	0.69	-11.8832	18.9181	0.92515	0.0:0.0:1.0:0.0	.	516	Q9UBG0	MRC2_HUMAN	K	516	ENSP00000307513:E516K	ENSP00000307513:E516K	E	+	1	0	MRC2	58105240	1.000000	0.71417	0.727000	0.30756	0.011000	0.07611	9.220000	0.95180	2.560000	0.86352	0.655000	0.94253	GAG	MRC2	-	NULL		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	G			60751508	1	no_errors	ENST00000303375	ensembl	human	known	70_37	missense	SNP	0.927	A	A	60751508	G	A	60751508	3	1	117	1	0	0	0	0	1	0	0	0	9781	1059	37	1	1580	1	MRC2	17	60751508	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9262	60751508	20443702	1119	18587										
TANC2	26115	genome.wustl.edu	37	chr17	61498543	61498543	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtctgtcactcaaaactaGatctggagcgctcctccagc	8	14	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:61498543G>C	ENST00000424789.2	+	25	5204	c.5200G>C	c.(5200-5202)Gat>Cat	p.D1734H	TANC2_ENST00000389520.4_Missense_Mutation_p.D1744H|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1734					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCAAAACTAGATCTGGAGCG	0.527																																																	0													190	190	190					17																	61498543		2049	4207	6256	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5200G>C	17.37:g.61498543G>C	ENSP00000387593:p.Asp1734His		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.D1734H	ENST00000424789.2	37	c.5200	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295478	0.40594	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68479	-0.33;-0.33	4.79	4.79	0.61399	.	0.124125	0.53938	D	0.000046	T	0.49184	0.1542	N	0.08118	0	0.46356	D	0.999008	P	0.39964	0.697	B	0.38562	0.276	T	0.58629	-0.7603	10	0.52906	T	0.07	.	16.5616	0.84568	0.0:0.0:1.0:0.0	.	1734	Q9HCD6	TANC2_HUMAN	H	1744;1734	ENSP00000374171:D1744H;ENSP00000387593:D1734H	ENSP00000374171:D1744H	D	+	1	0	TANC2	58852275	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.208000	0.95075	2.648000	0.89879	0.561000	0.74099	GAT	TANC2	-	NULL		0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61498543	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61498543	G	C	61498543	3	2	117	1	0	0	0	0	1	0	0	0	15575	942	33	1	5298	1	TANC2	17	61498543	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	747035	61498543	19696667	1120	18588										
STRADA	92335	genome.wustl.edu	37	chr17	61788121	61788121	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgatgtgacaacccacagctCattgtctgcaataaaagtgg	9	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:61788121C>T	ENST00000336174.6	-	7	536	c.424G>A	c.(424-426)Gag>Aag	p.E142K	STRADA_ENST00000375840.4_Missense_Mutation_p.E84K|STRADA_ENST00000579340.1_Missense_Mutation_p.E84K|STRADA_ENST00000582137.1_Missense_Mutation_p.E113K|STRADA_ENST00000392950.4_Missense_Mutation_p.E105K|STRADA_ENST00000447001.3_Missense_Mutation_p.E98K|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_Missense_Mutation_p.E84K	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ACCCACAGCTCATTGTCTGCA	0.468																																																	0													157	126	137					17																	61788121		2203	4300	6503	SO:0001583	missense	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.424G>A	17.37:g.61788121C>T	ENSP00000336655:p.Glu142Lys		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	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.E142K	ENST00000336174.6	37	c.424	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987823	0.74589	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044590	0.85682	D	0.000000	T	0.68421	0.2999	N	0.21373	0.66	0.80722	D	1	P;D;D;B;D;D;D	0.89917	0.823;0.991;1.0;0.441;0.957;1.0;0.964	P;P;D;P;P;D;P	0.87578	0.603;0.89;0.998;0.485;0.569;0.998;0.721	T	0.64905	-0.6297	10	0.27082	T	0.32	.	19.0331	0.92965	0.0:1.0:0.0:0.0	.	113;98;84;84;105;105;142	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	K	142;84;98;105;104	ENSP00000336655:E142K;ENSP00000365000:E84K;ENSP00000398841:E98K;ENSP00000376677:E105K	ENSP00000245865:E104K	E	-	1	0	STRADA	59141853	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.448000	0.80631	2.724000	0.93272	0.561000	0.74099	GAG	STRADA	-	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		0.468	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	C			61788121	-1	no_errors	ENST00000336174	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61788121	C	T	61788121	3	4	117	1	0	0	0	0	1	0	0	0	15354	835	29	1	957	1	STRADA	17	61788121	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	289578	61788121	19407089	1121	18589										
SCN4A	6329	genome.wustl.edu	37	chr17	62025267	62025267	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacatccacgatgaggaagtCgagccagcaccaggcgttgg	13	12	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:62025267C>G	ENST00000435607.1	-	17	3377	c.3301G>C	c.(3301-3303)Gac>Cac	p.D1101H	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1101H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1101					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGAGGAAGTCGAGCCAGCAC	0.587																																																	0													75	78	77					17																	62025267		2185	4299	6484	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3301G>C	17.37:g.62025267C>G	ENSP00000396320:p.Asp1101His		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.D1101H	ENST00000435607.1	37	c.3301	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741069	0.89573	.	.	ENSG00000007314	ENST00000435607	D	0.99394	-5.82	4.47	4.47	0.54385	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97042	0.9758	10	0.87932	D	0	.	16.6601	0.85238	0.0:1.0:0.0:0.0	.	1101	P35499	SCN4A_HUMAN	H	1101	ENSP00000396320:D1101H	ENSP00000396320:D1101H	D	-	1	0	SCN4A	59378999	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	7.598000	0.82745	2.502000	0.84385	0.462000	0.41574	GAC	SCN4A	-	pfam_Ion_trans_dom		0.587	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62025267	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62025267	C	G	62025267	3	3	117	1	0	0	0	0	1	0	0	0	13950	884	31	1	2241	1	SCN4A	17	62025267	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	237146	62025267	19169943	1122	18590										
DDX5	1655	genome.wustl.edu	37	chr17	62498149	62498149	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagccctctggaggccacatCtgtagcaatcagaataggag	11	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:62498149C>A	ENST00000225792.5	-	11	1596	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.D399Y|DDX5_ENST00000450599.2_Missense_Mutation_p.D320Y|DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	399	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GAGGCCACATCTGTAGCAATC	0.378			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													129	131	130					17																	62498149		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1195G>T	17.37:g.62498149C>A	ENSP00000225792:p.Asp399Tyr		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D399Y	ENST00000225792.5	37	c.1195	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814387	0.16607	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	6.08	5.1	0.69264	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90597	0.7052	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94468	0.7682	9	0.87932	D	0	-21.4811	16.7821	0.85565	0.1301:0.8699:0.0:0.0	.	320;399;399	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	Y	399;329;388	.	ENSP00000225792:D388Y	D	-	1	0	DDX5	59928611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.346000	0.79347	1.554000	0.49487	0.655000	0.94253	GAT	DDX5	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.378	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62498149	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62498149	C	A	62498149	3	1	117	1	0	0	0	0	1	0	0	0	4372	913	32	3	661	3	DDX5	17	62498149	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	472882	62498149	18697061	1123	18591										
SMURF2	64750	genome.wustl.edu	37	chr17	62594576	62594576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atggcattgcccagatccatCaaccaccaccttagcaaatg	6	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:62594576C>G	ENST00000262435.9	-	3	311	c.124G>C	c.(124-126)Gat>Cat	p.D42H	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	42	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CCAGATCCATCAACCACCACC	0.338																																																	0													104	99	101					17																	62594576		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.124G>C	17.37:g.62594576C>G	ENSP00000262435:p.Asp42His		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D42H	ENST00000262435.9	37	c.124	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471323	0.43942	.	.	ENSG00000108854	ENST00000262435	T	0.68765	-0.35	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86609	0.1871	10	0.87932	D	0	.	17.9028	0.88910	0.0:1.0:0.0:0.0	.	42	Q9HAU4	SMUF2_HUMAN	H	42	ENSP00000262435:D42H	ENSP00000262435:D42H	D	-	1	0	SMURF2	60025038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.289000	0.77006	0.555000	0.69702	GAT	SMURF2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	C	NM_022739		62594576	-1	no_errors	ENST00000262435	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62594576	C	G	62594576	3	3	117	1	0	0	0	0	1	0	0	0	14850	826	29	1	2190	1	SMURF2	17	62594576	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	96427	62594576	18600634	1124	18592										
NOL11	25926	genome.wustl.edu	37	chr17	65717632	65717632	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaactgttatctctgatgaaGaagtgattaagtaagttcca	8	5	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:65717632G>A	ENST00000253247.4	+	4	566	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	151					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCTGATGAAGAAGTGATTAA	0.368																																																	0													84	84	84					17																	65717632		2203	4300	6503	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.451G>A	17.37:g.65717632G>A	ENSP00000253247:p.Glu151Lys		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	pfam_NUC205	p.E151K	ENST00000253247.4	37	c.451	CCDS11671.1	17	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625016	0.46840	.	.	ENSG00000130935	ENST00000253247	T	0.22945	1.93	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51585	-0.8687	10	0.87932	D	0	-23.5593	15.6562	0.77136	0.0:0.0:1.0:0.0	.	151	Q9H8H0	NOL11_HUMAN	K	151	ENSP00000253247:E151K	ENSP00000253247:E151K	E	+	1	0	NOL11	63148094	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	8.494000	0.90477	2.523000	0.85059	0.561000	0.74099	GAA	NOL11	-	NULL		0.368	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	G	NM_015462		65717632	1	no_errors	ENST00000253247	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65717632	G	A	65717632	3	1	117	1	0	0	0	0	1	0	0	0	10545	943	33	1	465	1	NOL11	17	65717632	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3123056	65717632	15477578	1125	18593										
KPNA2	3838	genome.wustl.edu	37	chr17	66039098	66039098	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggctctccttgcagttcctGatatgtcatctttagcagta	8	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:66039098G>C	ENST00000537025.2	+	6	1269	c.649G>C	c.(649-651)Gat>Cat	p.D217H	KPNA2_ENST00000330459.3_Missense_Mutation_p.D217H			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	217	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAGTTCCTGATATGTCATC	0.408																																																	0													230	221	224					17																	66039098		2203	4300	6503	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.649G>C	17.37:g.66039098G>C	ENSP00000438483:p.Asp217His		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D217H	ENST00000537025.2	37	c.649	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064379	0.20067	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.32753	1.44;1.44	5.07	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.057977	0.64402	U	0.000003	T	0.37839	0.1018	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.15350	-1.0440	10	0.35671	T	0.21	.	13.9121	0.63873	0.0741:0.0:0.9259:0.0	.	217	P52292	IMA2_HUMAN	H	217	ENSP00000332455:D217H;ENSP00000438483:D217H	ENSP00000332455:D217H	D	+	1	0	KPNA2	63469560	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	6.177000	0.71961	1.257000	0.44085	0.557000	0.71058	GAT	KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.408	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66039098	1	no_errors	ENST00000330459	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66039098	G	C	66039098	3	2	117	1	0	0	0	0	1	0	0	0	8450	1290	45	1	667	1	KPNA2	17	66039098	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	321466	66039098	15156112	1126	18594										
AMZ2	51321	genome.wustl.edu	37	chr17	66247275	66247275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatgattgatctttacccaaGagactcgtggaattttgtct	8	7	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:66247275G>C	ENST00000359904.3	+	4	1674	c.542G>C	c.(541-543)aGa>aCa	p.R181T	AMZ2_ENST00000580753.1_Missense_Mutation_p.R181T|AMZ2_ENST00000577985.1_Missense_Mutation_p.R181T|AMZ2_ENST00000577273.1_Missense_Mutation_p.R181T|AMZ2_ENST00000392720.2_Missense_Mutation_p.R181T|AMZ2_ENST00000577866.1_Missense_Mutation_p.R181T|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Missense_Mutation_p.R123T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	181							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTTACCCAAGAGACTCGTGG	0.378																																																	0													154	153	153					17																	66247275		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.542G>C	17.37:g.66247275G>C	ENSP00000352976:p.Arg181Thr		A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.R181T	ENST00000359904.3	37	c.542	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503274	0.12822	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.71579	-0.58;-0.58;-0.58	3.48	2.4	0.29515	.	0.151725	0.40908	D	0.000982	T	0.67316	0.2880	M	0.62723	1.935	0.28450	N	0.916379	P;D	0.53619	0.835;0.961	B;P	0.49637	0.42;0.617	T	0.58758	-0.7580	10	0.16420	T	0.52	-10.9872	7.6211	0.28185	0.1472:0.0:0.8528:0.0	.	123;181	A6NLD9;Q86W34	.;AMZ2_HUMAN	T	181;123;181	ENSP00000352976:R181T;ENSP00000352831:R123T;ENSP00000376481:R181T	ENSP00000352831:R123T	R	+	2	0	AMZ2	63758870	0.937000	0.31787	1.000000	0.80357	0.704000	0.40688	1.171000	0.31896	1.787000	0.52448	0.306000	0.20318	AGA	AMZ2	-	NULL		0.378	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	G	NM_016627		66247275	1	no_errors	ENST00000359904	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66247275	G	C	66247275	3	2	117	1	0	0	0	0	1	0	0	0	597	942	33	1	552	1	AMZ2	17	66247275	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	208177	66247275	14947935	1127	18595										
ABCA5	23461	genome.wustl.edu	37	chr17	67302965	67302965	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaaaaagtatccaaaaggtGaaaatgctataactaggtat	7	6	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:67302965G>A	ENST00000392676.3	-	6	753	c.689C>T	c.(688-690)tCa>tTa	p.S230L	ABCA5_ENST00000392677.2_Missense_Mutation_p.S230L|ABCA5_ENST00000588877.1_Missense_Mutation_p.S230L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	230					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCCAAAAGGTGAAAATGCTAT	0.323																																																	0													45	48	47					17																	67302965		2202	4296	6498	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.689C>T	17.37:g.67302965G>A	ENSP00000376443:p.Ser230Leu		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S230L	ENST00000392676.3	37	c.689	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.094174	0.94149	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86097	-2.07;-2.07	5.13	5.13	0.70059	.	0.000000	0.48286	D	0.000181	D	0.92299	0.7557	M	0.81341	2.54	0.58432	D	0.999991	D;D	0.67145	0.989;0.996	P;D	0.67548	0.891;0.952	D	0.92509	0.6015	9	.	.	.	.	18.5867	0.91192	0.0:0.0:1.0:0.0	.	230;230	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	L	230	ENSP00000376444:S230L;ENSP00000376443:S230L	.	S	-	2	0	ABCA5	64814560	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.187000	0.89708	2.353000	0.79882	0.655000	0.94253	TCA	ABCA5	-	NULL		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	G	NM_018672		67302965	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67302965	G	A	67302965	3	1	117	1	0	0	0	0	1	0	0	0	35	1294	45	1	4375	1	ABCA5	17	67302965	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1055690	67302965	13892245	1128	18596										
SLC39A11	201266	genome.wustl.edu	37	chr17	70645373	70645373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgacagccaggccctcggGgaaattctggatcccgattc	12	13	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:70645373G>A	ENST00000542342.2	-	8	815	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Missense_Mutation_p.P236S	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	243					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.P236S(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGGCCCTCGGGGAAATTCTGG	0.557																																					NSCLC(95;736 1527 12296 39625 41839)												1	Substitution - Missense(1)	liver(1)											46	50	49					17																	70645373		2203	4300	6503	SO:0001583	missense	201266			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.727C>T	17.37:g.70645373G>A	ENSP00000445829:p.Pro243Ser		B2R8H7|Q8WZ81	Missense_Mutation	SNP	pfam_ZIP	p.P243S	ENST00000542342.2	37	c.727	CCDS54160.1	17	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892807	0.52121	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.58358	0.34;0.34	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88757	0.3254	10	0.87932	D	0	.	18.3766	0.90437	0.0:0.0:1.0:0.0	.	243;236	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	S	243;236	ENSP00000445829:P243S;ENSP00000255559:P236S	ENSP00000255559:P236S	P	-	1	0	SLC39A11	68156968	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.079000	0.76829	2.504000	0.84457	0.655000	0.94253	CCC	SLC39A11	-	pfam_ZIP		0.557	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A11	HGNC	protein_coding	OTTHUMT00000441442.1	G			70645373	-1	no_errors	ENST00000542342	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70645373	G	A	70645373	3	1	117	1	0	0	0	0	1	0	0	0	14644	1232	43	4	313	4	SLC39A11	17	70645373	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3342408	70645373	10549837	1129	18597										
SDK2	54549	genome.wustl.edu	37	chr17	71429875	71429875	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtgtgttccatctacctttCtgccaagtgatagctggtcg	11	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:71429875C>T	ENST00000392650.3	-	10	1308	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	SDK2_ENST00000388726.3_Silent_p.Q436Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	436	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATCTACCTTTCTGCCAAGTGA	0.582																																																	0													40	29	33					17																	71429875		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1308G>A	17.37:g.71429875C>T			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q436	ENST00000392650.3	37	c.1308	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147689	0.21288	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.8	2.71	0.32032	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60786	-0.7194	4	.	.	.	.	12.1361	0.53972	0.0:0.8493:0.0:0.1507	.	.	.	.	K	341	.	.	E	-	1	0	SDK2	68941470	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.586000	0.46119	1.117000	0.41842	0.462000	0.41574	GAA	SDK2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	C	NM_019064		71429875	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71429875	C	T	71429875	2	4	117	1	0	0	0	0	0	0	0	1	13999	912	32	1		1	SDK2	17	71429875	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	784502	71429875	9765335	1130	18598										
KIF19	124602	genome.wustl.edu	37	chr17	72350453	72350453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactgagcgagggcgacgatGcgcggccaccaggcccactg	15	15	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:72350453G>A	ENST00000389916.4	+	18	2599	c.2461G>A	c.(2461-2463)Gcg>Acg	p.A821T	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	821					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGCGACGATGCGCGGCCACC	0.726																																																	0													10	15	14					17																	72350453		2022	4173	6195	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2461G>A	17.37:g.72350453G>A	ENSP00000374566:p.Ala821Thr		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A821T	ENST00000389916.4	37	c.2461	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	5.464	0.270596	0.10349	.	.	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	4.81	-1.74	0.08056	.	.	.	.	.	T	0.39279	0.1072	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17868	-1.0355	9	0.22109	T	0.4	.	1.0277	0.01531	0.164:0.2176:0.2966:0.3219	.	821	Q2TAC6	KIF19_HUMAN	T	821	ENSP00000374566:A821T	ENSP00000374566:A821T	A	+	1	0	KIF19	69862048	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.155000	0.16362	0.060000	0.16281	0.556000	0.70494	GCG	KIF19	-	NULL		0.726	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	G	NM_153209		72350453	1	no_errors	ENST00000389916	ensembl	human	known	70_37	missense	SNP	0.007	A	A	72350453	G	A	72350453	3	1	117	1	0	0	0	0	1	0	0	0	8302	1319	46	4	2531	4	KIF19	17	72350453	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	920578	72350453	8844757	1131	18599										
KIAA0195	9772	genome.wustl.edu	37	chr17	73482471	73482471	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctgaagcgtcgggaggtaGagcggaggctgcgagggatc	21	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:73482471G>C	ENST00000314256.7	+	5	767	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E135Q	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	125						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGGGAGGTAGAGCGGAGGCT	0.587																																																	0													124	119	121					17																	73482471		2203	4300	6503	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.373G>C	17.37:g.73482471G>C	ENSP00000313885:p.Glu125Gln		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.E125Q	ENST00000314256.7	37	c.373	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263217	0.59431	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.88431	-2.38;-2.38	4.98	4.98	0.66077	.	0.140082	0.47852	D	0.000202	D	0.83198	0.5202	N	0.19112	0.55	0.46241	D	0.998943	P;B	0.37015	0.578;0.093	B;B	0.38056	0.264;0.054	D	0.83582	0.0118	10	0.40728	T	0.16	-18.9013	18.2683	0.90059	0.0:0.0:1.0:0.0	.	135;125	C9JL75;Q12767	.;K0195_HUMAN	Q	125;135	ENSP00000313885:E125Q;ENSP00000364397:E135Q	ENSP00000313885:E125Q	E	+	1	0	KIAA0195	70994066	1.000000	0.71417	0.912000	0.35992	0.914000	0.54420	3.402000	0.52608	2.314000	0.78098	0.561000	0.74099	GAG	KIAA0195	-	NULL		0.587	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	G	NM_014738		73482471	1	no_errors	ENST00000314256	ensembl	human	known	70_37	missense	SNP	0.993	C	C	73482471	G	C	73482471	3	2	117	1	0	0	0	0	1	0	0	0	8180	943	33	1	387	1	KIAA0195	17	73482471	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1132018	73482471	7712739	1132	18600										
UNK	85451	genome.wustl.edu	37	chr17	73820430	73820430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccaacacgctgcgctgtgtGagctctgcgctgagggcagc	15	13	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:73820430G>C	ENST00000589666.1	+	16	2475	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q	UNK_ENST00000293218.3_Missense_Mutation_p.E865Q	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	789							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGCTGTGTGAGCTCTGCGC	0.657																																																	0													28	28	28					17																	73820430		2108	4222	6330	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2365G>C	17.37:g.73820430G>C	ENSP00000464893:p.Glu789Gln			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E865Q	ENST00000589666.1	37	c.2593	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872246	0.72180	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.91	4.91	0.64330	Zinc finger, RING-type (1);	0.054508	0.64402	D	0.000001	T	0.74275	0.3695	L	0.55103	1.725	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.75388	-0.3335	9	0.52906	T	0.07	-21.9178	18.3073	0.90187	0.0:0.0:1.0:0.0	.	789	Q9C0B0	UNK_HUMAN	Q	865	.	ENSP00000293218:E865Q	E	+	1	0	UNK	71332025	1.000000	0.71417	0.991000	0.47740	0.255000	0.26057	9.056000	0.93881	2.561000	0.86390	0.563000	0.77884	GAG	UNK	-	NULL		0.657	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73820430	1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73820430	G	C	73820430	3	2	117	1	0	0	0	0	1	0	0	0	17031	1291	45	1	2659	1	UNK	17	73820430	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	337959	73820430	7374780	1133	18601										
SFRS2	6427	genome.wustl.edu	37	chr17	74733038	74733038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catggcatccatagcgtcctCagcgtcgcgcttgtcgtgaa	11	13	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74733038C>T	ENST00000392485.2	-	1	377	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.E69K|SRSF2_ENST00000359995.5_Missense_Mutation_p.E69K|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	69	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ATAGCGTCCTCAGCGTCGCGC	0.692			Mis		"MDS, CLL"																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													31	36	34					17																	74733038		2201	4297	6498	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.205G>A	17.37:g.74733038C>T	ENSP00000376276:p.Glu69Lys		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.E69K	ENST00000392485.2	37	c.205	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461297	0.63513	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.17528	2.27;2.27;2.27	4.72	3.74	0.42951	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.060490	0.64402	N	0.000006	T	0.28101	0.0693	L	0.49126	1.545	0.80722	D	1	P;P	0.40578	0.722;0.722	P;P	0.52424	0.698;0.698	T	0.01323	-1.1385	10	0.46703	T	0.11	.	12.2381	0.54526	0.0:0.9148:0.0:0.0852	.	69;69	B4DN89;Q01130	.;SRSF2_HUMAN	K	69;69;96;57;69	ENSP00000391278:E69K;ENSP00000376276:E69K;ENSP00000353089:E69K	ENSP00000350877:E57K	E	-	1	0	SRSF2	72244633	1.000000	0.71417	0.972000	0.41901	0.668000	0.39293	7.319000	0.79040	0.974000	0.38366	0.462000	0.41574	GAG	SRSF2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.692	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	C	NM_003016		74733038	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74733038	C	T	74733038	3	4	117	1	0	0	0	0	1	0	0	0	14205	835	29	1	468	1	SFRS2	17	74733038	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	912608	74733038	6462172	1134	18602										
MGAT5B	146664	genome.wustl.edu	37	chr17	74902154	74902154	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccggggacgtgttcagccctCgggtcctgaagggcgggccc	17	14	1	1	rs148343315		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74902154C>A	ENST00000569840.2	+	8	1484	c.910C>A	c.(910-912)Cgg>Agg	p.R304R	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Silent_p.R315R|MGAT5B_ENST00000301618.4_Silent_p.R304R	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	304					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTCAGCCCTCGGGTCCTGAA	0.647																																																	0													64	68	67					17																	74902154		2203	4300	6503	SO:0001819	synonymous_variant	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.910C>A	17.37:g.74902154C>A			Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R315	ENST00000569840.2	37	c.943	CCDS59299.1	17																																																																																			MGAT5B	-	NULL		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	C	NM_144677		74902154	1	no_errors	ENST00000428789	ensembl	human	known	70_37	silent	SNP	0.586	A	A	74902154	C	A	74902154	2	1	117	1	0	0	0	0	0	0	0	1	9572	875	31	3		3	MGAT5B	17	74902154	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	169116	74902154	6293056	1135	18603										
MGAT5B	146664	genome.wustl.edu	37	chr17	74902205	74902205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtgcagtgggcggacattCtgactgcactctatgtcctg	13	10	2	1	rs138534156		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74902205C>G	ENST00000569840.2	+	8	1535	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.L332V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.L321V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	321					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCGGACATTCTGACTGCACT	0.637																																																	0													73	68	70					17																	74902205		2203	4300	6503	SO:0001583	missense	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.961C>G	17.37:g.74902205C>G	ENSP00000456037:p.Leu321Val		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.L332V	ENST00000569840.2	37	c.994	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077950	0.55753	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.48201	0.83;0.82	5.27	2.09	0.27110	.	0.079660	0.51477	D	0.000085	T	0.40694	0.1127	M	0.68593	2.085	0.49582	D	0.999802	B;B	0.31318	0.319;0.319	B;B	0.26416	0.069;0.069	T	0.32613	-0.9900	10	0.56958	D	0.05	-19.8141	7.6127	0.28139	0.0:0.6547:0.0:0.3453	.	332;321	Q3V5L5-2;Q3V5L5-5	.;.	V	321;321;332	ENSP00000301618:L321V;ENSP00000391227:L332V	ENSP00000301618:L321V	L	+	1	2	MGAT5B	72413800	0.865000	0.29922	0.987000	0.45799	0.711000	0.40976	0.301000	0.19174	0.554000	0.29061	0.455000	0.32223	CTG	MGAT5B	-	NULL		0.637	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	C	NM_144677		74902205	1	no_errors	ENST00000428789	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74902205	C	G	74902205	3	3	117	1	0	0	0	0	1	0	0	0	9572	912	32	1	1092	1	MGAT5B	17	74902205	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	51	74902205	6293005	1136	18604										
RNF213	57674	genome.wustl.edu	37	chr17	78261737	78261737	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgctttcaaacccgtggcctCaggacacagccctgccccac	8	18	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:78261737C>T	ENST00000582970.1	+	4	528	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	RNF213_ENST00000319921.4_Nonsense_Mutation_p.Q129*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.Q129*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q178*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	129					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCCGTGGCCTCAGGACACAGC	0.642																																																	0													30	27	28					17																	78261737		2185	4272	6457	SO:0001587	stop_gained	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.385C>T	17.37:g.78261737C>T	ENSP00000464087:p.Gln129*		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q129*	ENST00000582970.1	37	c.385	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.448274	0.96205	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.33	2.09	0.27110	.	45.895600	0.02977	U	0.145203	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.0227	9.7661	0.40561	0.3229:0.6771:0.0:0.0	.	.	.	.	X	129;178;129;129	.	ENSP00000324392:Q129X	Q	+	1	0	RNF213	75876332	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	-0.076000	0.11412	0.919000	0.36945	0.655000	0.94253	CAG	RNF213	-	NULL		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78261737	1	no_errors	ENST00000582970	ensembl	human	known	70_37	nonsense	SNP	0.006	T	T	78261737	C	T	78261737	4	4	117	1	0	0	0	0	0	1	0	0	13507	827	29	1	546	1	RNF213	17	78261737	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3359532	78261737	2933473	1137	18605										
RNF213	57674	genome.wustl.edu	37	chr17	78328309	78328309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcaagaagagagccagtttCaccctctggagtggttggca	13	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:78328309C>T	ENST00000582970.1	+	36	10938	c.10795C>T	c.(10795-10797)Cac>Tac	p.H3599Y	RNF213_ENST00000508628.2_Missense_Mutation_p.H3648Y|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.H1672Y|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3599					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGCCAGTTTCACCCTCTGGA	0.527																																																	0													75	70	72					17																	78328309		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10795C>T	17.37:g.78328309C>T	ENSP00000464087:p.His3599Tyr		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.H3599Y	ENST00000582970.1	37	c.10795	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	8.562	0.877950	0.17395	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23754	1.89	4.93	-4.38	0.03622	.	1.400950	0.04119	N	0.315957	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18935	-1.0321	10	0.26408	T	0.33	.	4.8923	0.13733	0.1149:0.5033:0.1166:0.2653	.	3648;1672	C9JCP4;Q63HN8	.;RN213_HUMAN	Y	3599;3648;1672	ENSP00000338218:H1672Y	ENSP00000338218:H1672Y	H	+	1	0	RNF213	75942904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.186000	0.03070	-1.383000	0.02106	-0.188000	0.12872	CAC	RNF213	-	NULL		0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78328309	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.000	T	T	78328309	C	T	78328309	3	4	117	1	0	0	0	0	1	0	0	0	13507	826	29	1	11252	1	RNF213	17	78328309	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	66572	78328309	2866901	1138	18606										
AATK	9625	genome.wustl.edu	37	chr17	79097112	79097112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atagggctgcgtgcccagctCaaagagctcccagatggtca	12	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79097112C>G	ENST00000326724.4	-	10	1018	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	MIR657_ENST00000385003.1_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.E229Q|AATK_ENST00000572339.1_5'Flank|MIR338_ENST00000390137.2_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGCCCAGCTCAAAGAGCTCC	0.687																																																	0													10	14	13					17																	79097112		1610	3355	4965	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.994G>C	17.37:g.79097112C>G	ENSP00000324196:p.Glu332Gln		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E332Q	ENST00000326724.4	37	c.994	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.125299|5.125299	0.94429|0.94429	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000326724;ENST00000374792|ENST00000417379	D;D|.	0.89050|.	-2.46;-2.46|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71676|0.71676	0.3368|0.3368	L|L	0.61036|0.61036	1.89|1.89	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.71279|0.71279	-0.4640|-0.4640	10|5	0.66056|.	D|.	0.02|.	.|.	16.4985|16.4985	0.84251|0.84251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	332|.	Q6ZMQ8|.	LMTK1_HUMAN|.	Q|F	332|284	ENSP00000324196:E332Q;ENSP00000363924:E332Q|.	ENSP00000324196:E332Q|.	E|L	-|-	1|3	0|2	AATK|AATK	76711707|76711707	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.933000|0.933000	0.57130|0.57130	7.307000|7.307000	0.78920|0.78920	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	GAG|TTG	AATK	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.687	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79097112	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79097112	C	G	79097112	3	3	117	1	0	0	0	0	1	0	0	0	26	835	29	1	3150	1	AATK	17	79097112	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	768803	79097112	2098098	1139	18607										
HGS	9146	genome.wustl.edu	37	chr17	79660922	79660922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagaagtccacgtacacttCgtaccccaaggcggagccca	9	15	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79660922C>T	ENST00000329138.4	+	11	998	c.863C>T	c.(862-864)tCg>tTg	p.S288L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	288	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGTACACTTCGTACCCCAAG	0.672																																																	0													38	42	41					17																	79660922		2202	4300	6502	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.863C>T	17.37:g.79660922C>T	ENSP00000331201:p.Ser288Leu		Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S288L	ENST00000329138.4	37	c.863	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	C	8.513	0.867034	0.17250	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38401	1.14	4.36	-1.04	0.10068	.	0.639817	0.15536	N	0.257217	T	0.12732	0.0309	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.10111	T	0.7	-0.7425	4.0877	0.09955	0.0:0.2559:0.1942:0.5499	.	288	O14964	HGS_HUMAN	L	288	ENSP00000331201:S288L	ENSP00000331201:S288L	S	+	2	0	HGS	77271327	0.002000	0.14202	0.011000	0.14972	0.095000	0.18619	1.100000	0.31025	0.017000	0.15025	-0.302000	0.09304	TCG	HGS	-	pirsf_Ubi-bd_Hrs_VPS27		0.672	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	C	NM_004712		79660922	1	no_errors	ENST00000329138	ensembl	human	known	70_37	missense	SNP	0.332	T	T	79660922	C	T	79660922	3	4	117	1	0	0	0	0	1	0	0	0	7107	893	31	1	905	1	HGS	17	79660922	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	563810	79660922	1534288	1140	18608										
HGS	9146	genome.wustl.edu	37	chr17	79660949	79660949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaggcggagcccatgccctCggcctcctcagcgccccccg	11	21	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79660949C>T	ENST00000329138.4	+	11	1025	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	297	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCCATGCCCTCGGCCTCCTCA	0.647																																																	0													35	40	38					17																	79660949		2202	4300	6502	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.890C>T	17.37:g.79660949C>T	ENSP00000331201:p.Ser297Leu		Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S297L	ENST00000329138.4	37	c.890	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	C	2.847	-0.239064	0.05944	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39787	1.06	4.76	1.24	0.21308	.	0.405452	0.24530	N	0.037724	T	0.15435	0.0372	N	0.03608	-0.345	0.27790	N	0.942856	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.27785	T	0.31	-1.0748	3.733	0.08500	0.1586:0.1929:0.0:0.6485	.	297	O14964	HGS_HUMAN	L	297	ENSP00000331201:S297L	ENSP00000331201:S297L	S	+	2	0	HGS	77271354	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	2.862000	0.48388	-0.063000	0.13065	0.655000	0.94253	TCG	HGS	-	pirsf_Ubi-bd_Hrs_VPS27		0.647	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	C	NM_004712		79660949	1	no_errors	ENST00000329138	ensembl	human	known	70_37	missense	SNP	0.967	T	T	79660949	C	T	79660949	3	4	117	1	0	0	0	0	1	0	0	0	7107	893	31	1	932	1	HGS	17	79660949	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	27	79660949	1534261	1141	18609										
GPS1	2873	genome.wustl.edu	37	chr17	80014758	80014758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcagcgcagcaccacctttGagaagtctctgttgatgggc	11	11	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80014758G>C	ENST00000306823.6	+	12	1332	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	GPS1_ENST00000578552.1_Missense_Mutation_p.E433Q|GPS1_ENST00000320548.4_Missense_Mutation_p.E417Q|GPS1_ENST00000355130.2_Missense_Mutation_p.E473Q|GPS1_ENST00000392358.2_Missense_Mutation_p.E473Q			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	437					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CACCACCTTTGAGAAGTCTCT	0.652																																																	0													55	48	50					17																	80014758		2202	4300	6502	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1309G>C	17.37:g.80014758G>C	ENSP00000302873:p.Glu437Gln		Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E473Q	ENST00000306823.6	37	c.1417	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	g	14.67	2.604242	0.46423	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.12	4.12	0.48240	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.43701	1.375	0.80722	D	1	B;P;P;B;B;P	0.44309	0.196;0.741;0.537;0.296;0.356;0.832	B;B;B;B;B;B	0.43658	0.049;0.245;0.155;0.106;0.178;0.426	T	0.52139	-0.8615	9	0.25751	T	0.34	-41.0039	16.5325	0.84365	0.0:0.0:1.0:0.0	.	429;472;422;433;437;473	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	Q	473;423;437;473	.	ENSP00000302873:E437Q	E	+	1	0	GPS1	77608047	1.000000	0.71417	0.990000	0.47175	0.835000	0.47333	7.249000	0.78278	2.129000	0.65627	0.457000	0.33378	GAG	GPS1	-	smart_PCI_dom		0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	G	NM_212492		80014758	1	no_errors	ENST00000355130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80014758	G	C	80014758	3	2	117	1	0	0	0	0	1	0	0	0	6752	1291	45	1	1512	1	GPS1	17	80014758	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	353809	80014758	1180452	1142	18610										
FASN	2194	genome.wustl.edu	37	chr17	80040794	80040794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acccctgccgactcacctgtCcggatcccggagcgagaagt	11	16	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80040794C>T	ENST00000306749.2	-	33	5981	c.5763G>A	c.(5761-5763)cgG>cgA	p.R1921R	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1921	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ACTCACCTGTCCGGATCCCGG	0.662																																					Colon(59;314 1043 11189 28578 32273)												0													48	43	45					17																	80040794		2198	4296	6494	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5763G>A	17.37:g.80040794C>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.R1921	ENST00000306749.2	37	c.5763	CCDS11801.1	17																																																																																			FASN	-	pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80040794	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	0.853	T	T	80040794	C	T	80040794	2	4	117	1	0	0	0	0	0	0	0	1	5701	842	30	1		1	FASN	17	80040794	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	26036	80040794	1154416	1143	18611										
FASN	2194	genome.wustl.edu	37	chr17	80041486	80041486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctggcctgcagcttctcttCcgccaaggagttcaagacca	10	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80041486C>T	ENST00000306749.2	-	31	5466	c.5248G>A	c.(5248-5250)Gaa>Aaa	p.E1750K	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1750	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCTTCTCTTCCGCCAAGGAG	0.612																																					Colon(59;314 1043 11189 28578 32273)												0													31	30	30					17																	80041486		2190	4288	6478	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5248G>A	17.37:g.80041486C>T	ENSP00000304592:p.Glu1750Lys		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E1750K	ENST00000306749.2	37	c.5248	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.399419	0.96030	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.28666	1.6	4.57	4.57	0.56435	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.61451	-0.7060	10	0.72032	D	0.01	-21.8778	17.3469	0.87312	0.0:1.0:0.0:0.0	.	1750	P49327	FAS_HUMAN	K	1750;715	ENSP00000304592:E1750K	ENSP00000304592:E1750K	E	-	1	0	FASN	77634775	1.000000	0.71417	0.986000	0.45419	0.963000	0.63663	7.548000	0.82154	2.075000	0.62263	0.561000	0.74099	GAA	FASN	-	pfam_ADH_C,smart_PKS_ER		0.612	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80041486	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80041486	C	T	80041486	3	4	117	1	0	0	0	0	1	0	0	0	5701	864	30	1	2339	1	FASN	17	80041486	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	692	80041486	1153724	1144	18612										
FASN	2194	genome.wustl.edu	37	chr17	80042558	80042558	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccccccgggtgagggtgctCacaaaggcatgtgccgtcgg	15	13	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80042558C>G	ENST00000306749.2	-	27	4817	c.4599G>C	c.(4597-4599)gtG>gtC	p.V1533V	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1533					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGAGGGTGCTCACAAAGGCAT	0.701																																					Colon(59;314 1043 11189 28578 32273)												0													28	31	30					17																	80042558		2170	4279	6449	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4599G>C	17.37:g.80042558C>G			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.V1533	ENST00000306749.2	37	c.4599	CCDS11801.1	17																																																																																			FASN	-	NULL		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80042558	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	0.965	G	G	80042558	C	G	80042558	2	3	117	1	0	0	0	0	0	0	0	1	5701	813	29	1		1	FASN	17	80042558	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1072	80042558	1152652	1145	18613										
FASN	2194	genome.wustl.edu	37	chr17	80043493	80043493	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agggcagccaccatgttgctGagagctgaggccgggtcccc	15	13	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80043493G>C	ENST00000306749.2	-	23	4205	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1329					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCATGTTGCTGAGAGCTGAGG	0.687																																					Colon(59;314 1043 11189 28578 32273)												0																																										SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3987C>G	17.37:g.80043493G>C			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L1329	ENST00000306749.2	37	c.3987	CCDS11801.1	17																																																																																			FASN	-	pfam_Methyltransf_12,pfam_Methyltransf_11		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	G	NM_004104		80043493	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	0.008	C	C	80043493	G	C	80043493	2	2	117	1	0	0	0	0	0	0	0	1	5701	1277	45	1		1	FASN	17	80043493	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	935	80043493	1151717	1146	18614										
CCDC57	284001	genome.wustl.edu	37	chr17	80059623	80059623	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcctttagcttttgcaggatGagaccgggaggctcctgtgg	15	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80059623G>A	ENST00000389641.4	-	18	2722	c.2686C>T	c.(2686-2688)Cat>Tat	p.H896Y	CCDC57_ENST00000392347.1_Missense_Mutation_p.H896Y			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	896										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTTGCAGGATGAGACCGGGAG	0.607																																																	0													90	100	97					17																	80059623		1950	4141	6091	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2686C>T	17.37:g.80059623G>A	ENSP00000374292:p.His896Tyr		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.H896Y	ENST00000389641.4	37	c.2686		17	.	.	.	.	.	.	.	.	.	.	g	5.570	0.289984	0.10567	.	.	ENSG00000176155	ENST00000389641;ENST00000392347	T;T	0.12361	2.69;2.69	3.26	2.26	0.28386	.	.	.	.	.	T	0.14485	0.0350	L	0.27053	0.805	0.20926	N	0.999826	D	0.60160	0.987	P	0.52343	0.696	T	0.14392	-1.0474	9	0.41790	T	0.15	.	7.6562	0.28377	0.1296:0.0:0.8704:0.0	.	896	Q2TAC2	CCD57_HUMAN	Y	896	ENSP00000374292:H896Y;ENSP00000376158:H896Y	ENSP00000374292:H896Y	H	-	1	0	CCDC57	77652912	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.989000	0.29629	0.484000	0.27630	0.457000	0.33378	CAT	CCDC57	-	NULL		0.607	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	G	NM_198082		80059623	-1	no_errors	ENST00000389641	ensembl	human	known	70_37	missense	SNP	0.003	A	A	80059623	G	A	80059623	3	1	117	1	0	0	0	0	1	0	0	0	2832	1290	45	1	68	1	CCDC57	17	80059623	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	16130	80059623	1135587	1147	18615										
RAB12	201475	genome.wustl.edu	37	chr18	8638222	8638222	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagagcctgagataccgccaGaactgcctccaccaagacca	8	16	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:8638222G>C	ENST00000329286.6	+	6	980	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	233					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GATACCGCCAGAACTGCCTCC	0.413																																																	0													100	98	99					18																	8638222		1961	4150	6111	SO:0001583	missense	201475				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"RAB, member RAS oncogene"	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.697G>C	18.37:g.8638222G>C	ENSP00000331748:p.Glu233Gln		A6NEF5|Q4KMQ3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E233Q	ENST00000329286.6	37	c.697	CCDS42410.1	18	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655070	0.47467	.	.	ENSG00000206418	ENST00000329286	T	0.62639	0.01	5.87	5.87	0.94306	.	0.138948	0.46758	U	0.000272	T	0.66809	0.2827	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.59182	-0.7502	10	0.12103	T	0.63	.	20.2045	0.98273	0.0:0.0:1.0:0.0	.	233	Q6IQ22	RAB12_HUMAN	Q	233	ENSP00000331748:E233Q	ENSP00000331748:E233Q	E	+	1	0	RAB12	8628222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.119000	0.94362	2.780000	0.95670	0.650000	0.86243	GAA	RAB12	-	smart_Ran_GTPase		0.413	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RAB12	HGNC	protein_coding	OTTHUMT00000444080.1	G	XM_113967		8638222	1	no_errors	ENST00000329286	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8638222	G	C	8638222	3	2	117	1	0	0	0	0	1	0	0	0	12928	943	33	1	719	1	RAB12	18	8638222	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		8638222	69439026	1148	18616										
TXNDC2	84203	genome.wustl.edu	37	chr18	9886887	9886887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaggaggacctccccaagtcCtcagaaaaagccatccagcc	8	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:9886887C>T	ENST00000306084.6	+	2	610	c.411C>T	c.(409-411)tcC>tcT	p.S137S	TXNDC2_ENST00000536353.2_Silent_p.S70S|TXNDC2_ENST00000357775.5_Silent_p.S70S|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	137	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCCCAAGTCCTCAGAAAAAG	0.547																																																	0													132	127	129					18																	9886887		2203	4300	6503	SO:0001819	synonymous_variant	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.411C>T	18.37:g.9886887C>T			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S137	ENST00000306084.6	37	c.411	CCDS42414.1	18																																																																																			TXNDC2	-	pfam_Glutenin		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886887	1	no_errors	ENST00000306084	ensembl	human	known	70_37	silent	SNP	0.001	T	T	9886887	C	T	9886887	2	4	117	1	0	0	0	0	0	0	0	1	16828	668	24	4		4	TXNDC2	18	9886887	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1248665	9886887	68190361	1149	18617										
C18orf19	125228	genome.wustl.edu	37	chr18	13666565	13666565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttgtttcttccattttctCtgtgataagctcctttgtct	5	9	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:13666565C>T	ENST00000322247.3	-	5	1120	c.733G>A	c.(733-735)Gag>Aag	p.E245K	FAM210A_ENST00000402563.1_Missense_Mutation_p.E245K|AP001010.1_ENST00000580433.1_RNA|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	245						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TCCATTTTCTCTGTGATAAGC	0.418																																																	0													128	117	121					18																	13666565		2203	4300	6503	SO:0001583	missense	125228			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.733G>A	18.37:g.13666565C>T	ENSP00000323635:p.Glu245Lys		D3DUJ4	Missense_Mutation	SNP	pfam_DUF1279	p.E245K	ENST00000322247.3	37	c.733	CCDS11866.1	18	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027905	0.93518	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.73469	-0.75;-0.75	5.95	5.95	0.96441	.	0.049613	0.85682	D	0.000000	T	0.75155	0.3811	L	0.39898	1.24	0.52099	D	0.999949	D	0.54397	0.966	P	0.48738	0.588	T	0.73569	-0.3941	10	0.40728	T	0.16	-22.9616	20.3748	0.98911	0.0:1.0:0.0:0.0	.	245	Q96ND0	CR019_HUMAN	K	245	ENSP00000323635:E245K;ENSP00000386115:E245K	ENSP00000323635:E245K	E	-	1	0	C18orf19	13656565	1.000000	0.71417	0.997000	0.53966	0.787000	0.44495	7.369000	0.79578	2.817000	0.96982	0.563000	0.77884	GAG	FAM210A	-	NULL		0.418	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM210A	HGNC	protein_coding	OTTHUMT00000254637.1	C	NM_152352		13666565	-1	no_errors	ENST00000322247	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13666565	C	T	13666565	3	4	117	1	0	0	0	0	1	0	0	0	1901	922	32	1	89	1	C18orf19	18	13666565	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3779678	13666565	64410683	1150	18618										
POTEC	388468	genome.wustl.edu	37	chr18	14511988	14511988	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttctttcttatgactaagaGaaagctaagtaaacaaaggg	8	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:14511988G>A	ENST00000358970.5	-	11	1537	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	513										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATGACTAAGAGAAAGCTAAGT	0.318																																																	0													33	27	28					18																	14511988		692	1588	2280	SO:0001583	missense	388468			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1538C>T	18.37:g.14511988G>A	ENSP00000351856:p.Ser513Phe			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S513F	ENST00000358970.5	37	c.1538	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231559	0.09969	.	.	ENSG00000183206	ENST00000358970	T	0.35605	1.3	1.44	0.527	0.17084	.	.	.	.	.	T	0.26738	0.0654	L	0.48642	1.525	0.19945	N	0.999942	B	0.24576	0.106	B	0.15484	0.013	T	0.19031	-1.0318	9	0.41790	T	0.15	.	5.6845	0.17794	0.2015:0.0:0.7985:0.0	.	513	B2RU33	POTEC_HUMAN	F	513	ENSP00000351856:S513F	ENSP00000351856:S513F	S	-	2	0	POTEC	14501988	0.029000	0.19370	0.504000	0.27639	0.014000	0.08584	1.130000	0.31393	0.158000	0.19367	0.205000	0.17691	TCT	POTEC	-	NULL		0.318	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	G	XM_496269		14511988	-1	no_errors	ENST00000358970	ensembl	human	known	70_37	missense	SNP	0.856	A	A	14511988	G	A	14511988	3	1	117	1	0	0	0	0	1	0	0	0	12286	942	33	1	94	1	POTEC	18	14511988	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	845423	14511988	63565260	1151	18619										
ANKRD30B	374860	genome.wustl.edu	37	chr18	14799120	14799120	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtctcctgataatgatggtCttctgaaggtaataactttt	8	6	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:14799120C>T	ENST00000358984.4	+	21	2230	c.2050C>T	c.(2050-2052)Ctt>Ttt	p.L684F	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	684								p.L684I(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATGATGGTCTTCTGAAGGT	0.279																																																	1	Substitution - Missense(1)	lung(1)											85	61	68					18																	14799120		692	1586	2278	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2050C>T	18.37:g.14799120C>T	ENSP00000351875:p.Leu684Phe		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L684F	ENST00000358984.4	37	c.2050	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	2.468	-0.322527	0.05350	.	.	ENSG00000180777	ENST00000358984	T	0.06142	3.34	0.968	0.968	0.19680	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	P	0.47106	0.89	P	0.54965	0.765	T	0.40831	-0.9542	9	0.38643	T	0.18	.	5.3184	0.15868	0.0:1.0:0.0:0.0	.	684	F8WAG3	.	F	684	ENSP00000351875:L684F	ENSP00000351875:L684F	L	+	1	0	ANKRD30B	14789120	0.045000	0.20229	0.001000	0.08648	0.002000	0.02628	0.600000	0.24104	0.825000	0.34637	0.384000	0.25694	CTT	ANKRD30B	-	NULL		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	C	NM_001145029		14799120	1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.001	T	T	14799120	C	T	14799120	3	4	117	1	0	0	0	0	1	0	0	0	659	913	32	1	2132	1	ANKRD30B	18	14799120	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	287132	14799120	63278128	1152	18620										
HRH4	59340	genome.wustl.edu	37	chr18	22056884	22056884	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaatggtacatccttgccatCacatcattcttggaattcgt	7	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:22056884C>T	ENST00000256906.4	+	3	631	c.531C>T	c.(529-531)atC>atT	p.I177I	HRH4_ENST00000426880.2_Silent_p.I89I	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	177					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TCCTTGCCATCACATCATTCT	0.418																																																	0													247	228	235					18																	22056884		2203	4300	6503	SO:0001819	synonymous_variant	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.531C>T	18.37:g.22056884C>T			B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I177	ENST00000256906.4	37	c.531	CCDS11887.1	18																																																																																			HRH4	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	C			22056884	1	no_errors	ENST00000256906	ensembl	human	known	70_37	silent	SNP	0.229	T	T	22056884	C	T	22056884	2	4	117	1	0	0	0	0	0	0	0	1	7378	816	29	1		1	HRH4	18	22056884	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	7257764	22056884	56020364	1153	18621										
TAF4B	6875	genome.wustl.edu	37	chr18	23901074	23901074	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaacttaactctgatgctgtGaacttgatctcccaagcaac	7	11	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:23901074G>C	ENST00000269142.5	+	11	3041	c.2043G>C	c.(2041-2043)gtG>gtC	p.V681V	TAF4B_ENST00000578121.1_Silent_p.V686V	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	681	Histone-fold.				gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CTGATGCTGTGAACTTGATCT	0.388																																																	0													106	97	100					18																	23901074		1894	4126	6020	SO:0001819	synonymous_variant	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2043G>C	18.37:g.23901074G>C			Q29YA4|Q29YA5	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.V681	ENST00000269142.5	37	c.2043	CCDS42421.1	18																																																																																			TAF4B	-	pfam_TAF4,superfamily_Histone-fold		0.388	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	G	NM_005640		23901074	1	no_errors	ENST00000269142	ensembl	human	known	70_37	silent	SNP	1.000	C	C	23901074	G	C	23901074	2	2	117	1	0	0	0	0	0	0	0	1	15557	1277	45	1		1	TAF4B	18	23901074	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1844190	23901074	54176174	1154	18622										
DSC1	1823	genome.wustl.edu	37	chr18	28710590	28710590	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcaacctactgagccggccaGagaacctttgccttcatagt	9	13	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:28710590G>C	ENST00000257198.5	-	16	2833	c.2572C>G	c.(2572-2574)Ctg>Gtg	p.L858V	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	858					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAGCCGGCCAGAGAACCTTTG	0.443																																																	0													145	144	144					18																	28710590		2203	4300	6503	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2572C>G	18.37:g.28710590G>C	ENSP00000257198:p.Leu858Val		Q9HB01	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin	p.L858V	ENST00000257198.5	37	c.2572	CCDS11894.1	18	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.686910	0.00738	.	.	ENSG00000134765	ENST00000257198	T	0.75260	-0.92	6.17	-11.0	0.00169	Cadherin, cytoplasmic domain (1);	1.593630	0.03760	N	0.258059	T	0.36908	0.0984	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39502	-0.9611	10	0.02654	T	1	.	1.0342	0.01544	0.2187:0.1459:0.2827:0.3526	.	858	Q08554	DSC1_HUMAN	V	858	ENSP00000257198:L858V	ENSP00000257198:L858V	L	-	1	2	DSC1	26964588	0.000000	0.05858	0.000000	0.03702	0.450000	0.32258	-3.035000	0.00635	-3.001000	0.00276	-1.291000	0.01355	CTG	DSC1	-	pfam_Cadherin_cytoplasmic-dom,prints_Desmo_cadherin		0.443	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	G	NM_004948, NM_024421		28710590	-1	no_errors	ENST00000257198	ensembl	human	known	70_37	missense	SNP	0.000	C	C	28710590	G	C	28710590	3	2	117	1	0	0	0	0	1	0	0	0	4775	933	33	1	116	1	DSC1	18	28710590	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4809516	28710590	49366658	1155	18623										
RNF125	54941	genome.wustl.edu	37	chr18	29622159	29622159	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taggtttgcctcagtgaaatGagggcacatattcggacttg	12	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:29622159G>T	ENST00000217740.3	+	3	828	c.336G>T	c.(334-336)atG>atT	p.M112I	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	112					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCAGTGAAATGAGGGCACATA	0.363																																																	0													77	72	74					18																	29622159		2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.336G>T	18.37:g.29622159G>T	ENSP00000217740:p.Met112Ile		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M112I	ENST00000217740.3	37	c.336	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977872	0.74360	.	.	ENSG00000101695	ENST00000217740	D	0.82433	-1.61	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.86924	0.6050	L	0.52206	1.635	0.41560	D	0.988627	P	0.45126	0.851	P	0.58391	0.838	D	0.83861	0.0268	10	0.26408	T	0.33	-3.6811	16.5557	0.84484	0.0:0.0:1.0:0.0	.	112	Q96EQ8	RN125_HUMAN	I	112	ENSP00000217740:M112I	ENSP00000217740:M112I	M	+	3	0	RNF125	27876157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.059000	0.64306	2.720000	0.93068	0.563000	0.77884	ATG	RNF125	-	NULL		0.363	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29622159	1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29622159	G	T	29622159	3	4	117	1	0	0	0	0	1	0	0	0	13464	1290	45	3	346	3	RNF125	18	29622159	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	911569	29622159	48455089	1156	18624										
FAM59A	64762	genome.wustl.edu	37	chr18	29847959	29847959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggttcccatcaatcttttCagtaacaaagaatgatatga	6	8	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:29847959C>T	ENST00000269209.6	-	6	2509	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	GAREM_ENST00000399218.4_Missense_Mutation_p.E835K			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	836	SAM.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TCAATCTTTTCAGTAACAAAG	0.418																																																	0													56	54	54					18																	29847959		2203	4300	6503	SO:0001583	missense	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2506G>A	18.37:g.29847959C>T	ENSP00000269209:p.Glu836Lys		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.E836K	ENST00000269209.6	37	c.2506	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017371	0.93404	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.17691	2.26;2.26	5.66	5.66	0.87406	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.985;0.997	T	0.34551	-0.9824	10	0.87932	D	0	-16.1092	19.8068	0.96534	0.0:1.0:0.0:0.0	.	836;835	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	835;836	ENSP00000382165:E835K;ENSP00000269209:E836K	ENSP00000269209:E836K	E	-	1	0	FAM59A	28101957	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.420000	0.80191	2.684000	0.91462	0.650000	0.86243	GAA	FAM59A	-	superfamily_SAM/pointed		0.418	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	C	NM_022751		29847959	-1	no_errors	ENST00000269209	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29847959	C	T	29847959	3	4	117	1	0	0	0	0	1	0	0	0	5610	835	29	1	128	1	FAM59A	18	29847959	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	225800	29847959	48229289	1157	18625										
ZNF397	84307	genome.wustl.edu	37	chr18	32823228	32823228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttaaagacacagctgaaatCctggaaaccatgcctttccc	6	13	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:32823228C>T	ENST00000330501.7	+	3	680	c.527C>T	c.(526-528)tCc>tTc	p.S176F	ZNF397_ENST00000585800.1_Missense_Mutation_p.S176F|ZNF397_ENST00000261333.6_Missense_Mutation_p.S176F|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000355632.4_Missense_Mutation_p.S176F|ZNF397_ENST00000592264.1_Missense_Mutation_p.S176F|ZNF397_ENST00000591206.1_Missense_Mutation_p.S176F	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	176					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CAGCTGAAATCCTGGAAACCA	0.463																																																	0													120	114	116					18																	32823228		2203	4300	6503	SO:0001583	missense	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.527C>T	18.37:g.32823228C>T	ENSP00000331577:p.Ser176Phe		Q9BRM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S176F	ENST00000330501.7	37	c.527	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449576	0.63178	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.08720	4.17;3.06;4.17	4.79	2.99	0.34606	.	.	.	.	.	T	0.07908	0.0198	L	0.38175	1.15	0.31772	N	0.631989	P;B;B;B	0.50943	0.94;0.214;0.043;0.024	P;B;B;B	0.48030	0.564;0.135;0.025;0.017	T	0.04635	-1.0937	9	0.10377	T	0.69	.	6.497	0.22148	0.0:0.7869:0.0:0.2131	.	176;176;176;176	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	F	176	ENSP00000261333:S176F;ENSP00000331577:S176F;ENSP00000347850:S176F	ENSP00000261333:S176F	S	+	2	0	ZNF397	31077226	0.971000	0.33674	0.998000	0.56505	0.975000	0.68041	0.527000	0.22987	1.322000	0.45245	0.585000	0.79938	TCC	ZNF397	-	NULL		0.463	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	C	NM_032347		32823228	1	no_errors	ENST00000330501	ensembl	human	known	70_37	missense	SNP	0.997	T	T	32823228	C	T	32823228	3	4	117	1	0	0	0	0	1	0	0	0	17913	855	30	1	533	1	ZNF397	18	32823228	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2975269	32823228	45254020	1158	18626										
ZNF397	84307	genome.wustl.edu	37	chr18	32825269	32825270	+	Frame_Shift_Ins	INS	-	-	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaaagagggcatctcagaaINSgaaaaatcacagggactccc							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:32825269_32825270insT	ENST00000330501.7	+	4	753_754	c.600_601insT	c.(601-603)gaafs	p.E201fs	ZNF397_ENST00000261333.6_Frame_Shift_Ins_p.E201fs|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	201					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GCATCTCAGAAGAAAAATCACA	0.401																																																	0																																										SO:0001589	frameshift_variant	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		Exception_encountered	18.37:g.32825269_32825270insT	ENSP00000331577:p.Glu201fs		Q9BRM2	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E200fs	ENST00000330501.7	37	c.600_601	CCDS45852.1	18																																																																																			ZNF397	-	NULL		0.401	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	-	NM_032347		32825270	1	no_errors	ENST00000330501	ensembl	human	known	70_37	frame_shift_ins	INS	0.360:0.412	T	T	32825270	-	T	32825269	7	5	117	1	0	1	1	0	0	0	0	0	17913	69	3	0	610	0	ZNF397	18	32825269	Frame_Shift_Ins	INS	-	TCGA-EK-A3GK-01A-11D-A20U-09	2041	32825269	45251979	1159	18627	106	2								
ZNF397	84307	genome.wustl.edu	37	chr18	32825270	32825270	+	Nonsense_Mutation	SNP	G	G	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaaagagggcatctcagaaGaaaaatcacagggactccct							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:32825270G>T	ENST00000330501.7	+	4	754	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	ZNF397_ENST00000261333.6_Nonsense_Mutation_p.E201*|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	201					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CATCTCAGAAGAAAAATCACA	0.398																																																	0													76	76	76					18																	32825270		2203	4300	6503	SO:0001587	stop_gained	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.601G>T	18.37:g.32825270G>T	ENSP00000331577:p.Glu201*		Q9BRM2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E201*	ENST00000330501.7	37	c.601	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447757	0.84101	.	.	ENSG00000186812	ENST00000261333;ENST00000330501	.	.	.	3.56	2.58	0.30949	.	0.481848	0.15412	N	0.263725	.	.	.	.	.	.	0.24941	N	0.99186	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	9.9147	0.41427	0.0:0.0:0.7966:0.2034	.	.	.	.	X	201	.	ENSP00000261333:E201X	E	+	1	0	ZNF397	31079268	0.002000	0.14202	0.823000	0.32752	0.890000	0.51754	0.862000	0.27899	1.994000	0.58287	0.289000	0.19496	GAA	ZNF397	-	NULL		0.398	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	G	NM_032347		32825270	1	no_errors	ENST00000330501	ensembl	human	known	70_37	nonsense	SNP	0.412	T	T	32825270	G	T	32825270	4	4	117	1	0	0	0	0	0	1	0	0	17913	943	33	3	611	3	ZNF397	18	32825270	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1	32825270	45251978	1160	18628	106	2								
MOCOS	55034	genome.wustl.edu	37	chr18	33795780	33795780	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagggtttggaacaactcgtCtactgtgaatgctgtgcctg	12	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:33795780C>G	ENST00000261326.5	+	8	1658	c.1637C>G	c.(1636-1638)tCt>tGt	p.S546C		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACAACTCGTCTACTGTGAAT	0.587																																																	0													73	66	68					18																	33795780		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1637C>G	18.37:g.33795780C>G	ENSP00000261326:p.Ser546Cys			Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.S546C	ENST00000261326.5	37	c.1637	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477199	0.26511	.	.	ENSG00000075643	ENST00000261326	T	0.15952	2.38	5.05	-0.743	0.11105	.	0.891179	0.10014	N	0.726783	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	P	0.34837	0.472	B	0.32624	0.149	T	0.29427	-1.0012	10	0.56958	D	0.05	-1.2276	3.2385	0.06772	0.2776:0.2231:0.4072:0.0922	.	546	Q96EN8	MOCOS_HUMAN	C	546	ENSP00000261326:S546C	ENSP00000261326:S546C	S	+	2	0	MOCOS	32049778	.	.	0.000000	0.03702	0.006000	0.05464	.	.	0.146000	0.19002	0.462000	0.41574	TCT	MOCOS	-	NULL		0.587	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	C			33795780	1	no_errors	ENST00000261326	ensembl	human	known	70_37	missense	SNP	0.000	G	G	33795780	C	G	33795780	3	3	117	1	0	0	0	0	1	0	0	0	9712	913	32	1	1667	1	MOCOS	18	33795780	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	970510	33795780	44281468	1161	18629										
TCEB3B	51224	genome.wustl.edu	37	chr18	44559777	44559777	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatattcgttgtcattactCtcagccgctgctctggggcg	12	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:44559777C>G	ENST00000332567.4	-	1	2211	c.1859G>C	c.(1858-1860)aGa>aCa	p.R620T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	620	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTCATTACTCTCAGCCGCTG	0.498																																																	0													96	98	97					18																	44559777		2203	4300	6503	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1859G>C	18.37:g.44559777C>G	ENSP00000331302:p.Arg620Thr		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R620T	ENST00000332567.4	37	c.1859	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215662	0.22373	.	.	ENSG00000206181	ENST00000332567	T	0.32988	1.43	1.4	0.48	0.16804	.	0.172078	0.27088	N	0.020983	T	0.29061	0.0722	L	0.48877	1.53	0.09310	N	1	P	0.37688	0.605	P	0.48921	0.595	T	0.10917	-1.0609	10	0.30854	T	0.27	-4.0646	2.2609	0.04067	0.295:0.5067:0.0:0.1983	.	620	Q8IYF1	ELOA2_HUMAN	T	620	ENSP00000331302:R620T	ENSP00000331302:R620T	R	-	2	0	TCEB3B	42813775	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.267000	0.18552	0.151000	0.19162	0.609000	0.83330	AGA	TCEB3B	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.498	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	C	NM_016427		44559777	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	missense	SNP	0.014	G	G	44559777	C	G	44559777	3	3	117	1	0	0	0	0	1	0	0	0	15712	913	32	1	406	1	TCEB3B	18	44559777	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10763997	44559777	33517471	1162	18630										
TCEB3B	51224	genome.wustl.edu	37	chr18	44560325	44560325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgcctgcagcctctctgaCtggctttcctggacaggagg	13	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:44560325C>T	ENST00000332567.4	-	1	1663	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	437					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCCTCTCTGACTGGCTTTCCT	0.582																																																	0													74	74	74					18																	44560325		2202	4300	6502	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1311G>A	18.37:g.44560325C>T			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.Q437	ENST00000332567.4	37	c.1311	CCDS11932.1	18																																																																																			TCEB3B	-	NULL		0.582	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	C	NM_016427		44560325	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	silent	SNP	0.000	T	T	44560325	C	T	44560325	2	4	117	1	0	0	0	0	0	0	0	1	15712	564	20	4		4	TCEB3B	18	44560325	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	548	44560325	33516923	1163	18631										
ZBTB7C	201501	genome.wustl.edu	37	chr18	45567016	45567016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcctcttcctcctcctcctCttcgtcctcctcatcatcat	1	21	5	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:45567016C>T	ENST00000588982.1	-	3	964	c.463G>A	c.(463-465)Gag>Aag	p.E155K	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E155K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E155K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E155K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E155K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	155	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcctcctcctcttcgtcctcc	0.577																																																	0													157	120	132					18																	45567016		2203	4300	6503	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.463G>A	18.37:g.45567016C>T	ENSP00000468782:p.Glu155Lys		O73453	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E155K	ENST00000588982.1	37	c.463	CCDS32830.1	18	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507641	0.64410	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.07800	3.16;3.16	5.34	5.34	0.76211	.	0.471757	0.18721	N	0.133005	T	0.05502	0.0145	N	0.14661	0.345	0.52501	D	0.999959	B;B;B	0.30482	0.281;0.18;0.18	B;B;B	0.26969	0.051;0.075;0.075	T	0.37079	-0.9721	10	0.08179	T	0.78	.	16.8014	0.85615	0.0:1.0:0.0:0.0	.	155;155;155	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	K	155	ENSP00000439781:E155K;ENSP00000328732:E155K	ENSP00000328732:E155K	E	-	1	0	ZBTB7C	43821014	1.000000	0.71417	0.949000	0.38748	0.099000	0.18886	6.921000	0.75805	2.491000	0.84063	0.561000	0.74099	GAG	ZBTB7C	-	NULL		0.577	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	C	NM_001039360		45567016	-1	no_errors	ENST00000332053	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45567016	C	T	45567016	3	4	117	1	0	0	0	0	1	0	0	0	17585	922	32	1	1404	1	ZBTB7C	18	45567016	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1006691	45567016	32510232	1164	18632										
C18orf26	284254	genome.wustl.edu	37	chr18	52265085	52265085	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gactggtctatgtggaaagtCttcctggcttgtctcttagc	11	9	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:52265085C>G	ENST00000321600.1	+	3	388	c.342C>G	c.(340-342)gtC>gtG	p.V114V	DYNAP_ENST00000585973.1_Silent_p.V62V	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	114					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGTGGAAAGTCTTCCTGGCTT	0.353																																																	0													112	100	104					18																	52265085		2203	4300	6503	SO:0001819	synonymous_variant	284254			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 26"	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.342C>G	18.37:g.52265085C>G				Silent	SNP	NULL	p.V114	ENST00000321600.1	37	c.342	CCDS11957.1	18																																																																																			DYNAP	-	NULL		0.353	DYNAP-001	KNOWN	basic|CCDS	protein_coding	DYNAP	HGNC	protein_coding	OTTHUMT00000256007.1	C	NM_173629		52265085	1	no_errors	ENST00000321600	ensembl	human	known	70_37	silent	SNP	0.942	G	G	52265085	C	G	52265085	2	3	117	1	0	0	0	0	0	0	0	1	1905	900	32	1		1	C18orf26	18	52265085	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6698069	52265085	25812163	1165	18633										
ONECUT2	9480	genome.wustl.edu	37	chr18	55103898	55103898	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtcgcgagcggccaccctCgtcctcatcgggctcgcagg	13	17	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:55103898C>A	ENST00000491143.2	+	1	982	c.950C>A	c.(949-951)tCg>tAg	p.S317*	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	317	Poly-Ser.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGGCCACCCTCGTCCTCATCG	0.667																																																	0													15	20	18					18																	55103898		2015	4165	6180	SO:0001587	stop_gained	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.950C>A	18.37:g.55103898C>A	ENSP00000419185:p.Ser317*			Nonsense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.S317*	ENST00000491143.2	37	c.950	CCDS42440.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.759955	0.96898	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.55	4.55	0.56014	.	0.150608	0.45606	D	0.000351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3822	13.1737	0.59613	0.0:1.0:0.0:0.0	.	.	.	.	X	298;317	.	ENSP00000262095:S317X	S	+	2	0	ONECUT2	53254896	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	3.245000	0.51407	2.277000	0.76020	0.455000	0.32223	TCG	ONECUT2	-	superfamily_Lambda_DNA-bd_dom		0.667	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	C			55103898	1	no_errors	ENST00000262095	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55103898	C	A	55103898	4	1	117	1	0	0	0	0	0	1	0	0	10893	893	31	3	952	3	ONECUT2	18	55103898	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2838813	55103898	22973350	1166	18634										
NEDD4L	23327	genome.wustl.edu	37	chr18	56024425	56024425	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttttttttaacattttcaGatagcaaaattactcagtgg	5	5	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:56024425G>A	ENST00000400345.3	+	19	1991		c.e19-1		NEDD4L_ENST00000586263.1_Splice_Site|NEDD4L_ENST00000256832.7_Splice_Site|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Splice_Site|NEDD4L_ENST00000431212.2_Splice_Site|NEDD4L_ENST00000382850.4_Splice_Site|NEDD4L_ENST00000435432.2_Splice_Site|NEDD4L_ENST00000456173.2_Splice_Site|NEDD4L_ENST00000356462.6_Splice_Site|NEDD4L_ENST00000256830.9_Splice_Site|NEDD4L_ENST00000456986.1_Splice_Site	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						aaCATTTTCAGATAGCAAAAT	0.323																																																	0													47	45	46					18																	56024425		1812	4073	5885	SO:0001630	splice_region_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1709-1G>A	18.37:g.56024425G>A			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Splice_Site	SNP	-	e19-1	ENST00000400345.3	37	c.1709-1	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554332	0.86231	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7403	0.91770	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD4L	54175405	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.541000	0.98083	2.495000	0.84180	0.591000	0.81541	.	NEDD4L	-	-		0.323	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	G		Intron	56024425	1	no_errors	ENST00000400345	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	56024425	G	A	56024425	5	1	117	1	0	0	0	0	0	0	1	0	10335	956	33	1	1810	1	NEDD4L	18	56024425	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	920527	56024425	22052823	1167	18635										
PHLPP1	23239	genome.wustl.edu	37	chr18	60645786	60645786	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggtgcagctcagtgtcactGaggacagcttctgctgctgc	13	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:60645786G>C	ENST00000262719.5	+	17	4510	c.4276G>C	c.(4276-4278)Gag>Cag	p.E1426Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E914Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1426					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CAGTGTCACTGAGGACAGCTT	0.627																																																	0													23	27	26					18																	60645786		2130	4234	6364	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4276G>C	18.37:g.60645786G>C	ENSP00000262719:p.Glu1426Gln		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.E1426Q	ENST00000262719.5	37	c.4276	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697897	0.68386	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.30981	1.7;1.51	4.61	4.61	0.57282	.	.	.	.	.	T	0.33731	0.0873	L	0.52126	1.63	0.51012	D	0.999906	P	0.48503	0.911	B	0.43838	0.433	T	0.10042	-1.0647	9	0.34782	T	0.22	-21.6961	17.6551	0.88175	0.0:0.0:1.0:0.0	.	1426	O60346	PHLP1_HUMAN	Q	914;1426	ENSP00000383170:E914Q;ENSP00000262719:E1426Q	ENSP00000262719:E1426Q	E	+	1	0	PHLPP1	58796766	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.505000	0.81655	2.392000	0.81423	0.655000	0.94253	GAG	PHLPP1	-	NULL		0.627	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60645786	1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	0.999	C	C	60645786	G	C	60645786	3	2	117	1	0	0	0	0	1	0	0	0	11878	1291	45	1	4342	1	PHLPP1	18	60645786	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4621361	60645786	17431462	1168	18636										
DOK6	220164	genome.wustl.edu	37	chr18	67344969	67344969	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgatgttgtggttactttcaGagctggaggccgaggagtgg	17	5	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:67344969G>A	ENST00000382713.5	+	4	479		c.e4-1		DOK6_ENST00000584435.1_Splice_Site	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTACTTTCAGAGCTGGAGGC	0.517																																																	0													123	117	119					18																	67344969		2203	4300	6503	SO:0001630	splice_region_variant	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.290-1G>A	18.37:g.67344969G>A			A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Splice_Site	SNP	-	e4-1	ENST00000382713.5	37	c.290-1	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769245	0.69992	.	.	ENSG00000206052	ENST00000382713	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9217	0.86166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOK6	65495949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	.	DOK6	-	-		0.517	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721	Intron	67344969	1	no_errors	ENST00000382713	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	67344969	G	A	67344969	5	1	117	1	0	0	0	0	0	0	1	0	4711	956	33	1	303	1	DOK6	18	67344969	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6699183	67344969	10732279	1169	18637										
RTTN	25914	genome.wustl.edu	37	chr18	67684778	67684778	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagacagccatcaagcctcaGaatcatttgttgcccatctt	6	12	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:67684778G>A	ENST00000255674.6	-	46	6572	c.6286C>T	c.(6286-6288)Ctg>Ttg	p.L2096L	RTTN_ENST00000579986.1_5'Flank|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2096					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCAAGCCTCAGAATCATTTGT	0.373																																																	0													144	139	140					18																	67684778		1895	4130	6025	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6286C>T	18.37:g.67684778G>A			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.L2096	ENST00000255674.6	37	c.6286	CCDS42443.1	18																																																																																			RTTN	-	superfamily_ARM-type_fold		0.373	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67684778	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67684778	G	A	67684778	2	1	117	1	0	0	0	0	0	0	0	1	13767	933	33	1		1	RTTN	18	67684778	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	339809	67684778	10392470	1170	18638										
NETO1	81832	genome.wustl.edu	37	chr18	70417642	70417642	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagctgtagctcctgtccctCtgagagtgcataactcataa	8	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:70417642C>G	ENST00000327305.6	-	9	1853	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T	NETO1_ENST00000299430.2_Missense_Mutation_p.R398T|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.R399T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	399					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCTGTCCCTCTGAGAGTGCA	0.428																																																	0													81	75	77					18																	70417642		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1196G>C	18.37:g.70417642C>G	ENSP00000313088:p.Arg399Thr		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R399T	ENST00000327305.6	37	c.1196	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777236	0.90195	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.40476	1.03;1.03	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.65533	0.2700	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.75020	0.985;0.971	T	0.66360	-0.5943	10	0.87932	D	0	-3.3033	20.055	0.97649	0.0:1.0:0.0:0.0	.	398;399	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	T	399;398	ENSP00000313088:R399T;ENSP00000299430:R398T	ENSP00000299430:R398T	R	-	2	0	NETO1	68568622	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.484000	0.81180	2.743000	0.94032	0.455000	0.32223	AGA	NETO1	-	NULL		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	C	NM_138999		70417642	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70417642	C	G	70417642	3	3	117	1	0	0	0	0	1	0	0	0	10363	913	32	1	413	1	NETO1	18	70417642	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2732864	70417642	7659606	1171	18639										
FBXO15	201456	genome.wustl.edu	37	chr18	71790643	71790643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgaaatgtaccacataggtaGaaaaccccaccgctgtgcag	9	12	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:71790643G>A	ENST00000419743.2	-	8	1177	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FBXO15_ENST00000269500.5_Silent_p.F290F	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	366						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CACATAGGTAGAAAACCCCAC	0.443																																																	0													79	77	77					18																	71790643		2203	4300	6503	SO:0001819	synonymous_variant	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1098C>T	18.37:g.71790643G>A			B3KST3	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F366	ENST00000419743.2	37	c.1098	CCDS45884.1	18																																																																																			FBXO15	-	NULL		0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71790643	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	silent	SNP	0.908	A	A	71790643	G	A	71790643	2	1	117	1	0	0	0	0	0	0	0	1	5746	933	33	1		1	FBXO15	18	71790643	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1373001	71790643	6286605	1172	18640										
FAM69C	125704	genome.wustl.edu	37	chr18	72114012	72114012	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggcccggtccagggggaaGagtgccctgtggtgggggct	22	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:72114012G>A	ENST00000343998.6	-	2	713	c.705C>T	c.(703-705)ctC>ctT	p.L235L	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	235						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						CCAGGGGGAAGAGTGCCCTGT	0.662																																																	0													49	52	51					18																	72114012		692	1591	2283	SO:0001819	synonymous_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.705C>T	18.37:g.72114012G>A				Silent	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.L235	ENST00000343998.6	37	c.705	CCDS42445.2	18																																																																																			FAM69C	-	superfamily_Kinase-like_dom		0.662	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	G	XM_058931		72114012	-1	no_errors	ENST00000343998	ensembl	human	known	70_37	silent	SNP	0.999	A	A	72114012	G	A	72114012	2	1	117	1	0	0	0	0	0	0	0	1	5622	929	33	1		1	FAM69C	18	72114012	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	323369	72114012	5963236	1173	18641										
ZNF407	55628	genome.wustl.edu	37	chr18	72775637	72775637	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgctccccccgaggcatcctCagccctggatgcattgctct	9	18	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:72775637C>T	ENST00000299687.5	+	8	5960	c.5960C>T	c.(5959-5961)tCa>tTa	p.S1987L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1987					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGCATCCTCAGCCCTGGAT	0.617																																																	0													15	19	18					18																	72775637		2088	4208	6296	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5960C>T	18.37:g.72775637C>T	ENSP00000299687:p.Ser1987Leu		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.S1987L	ENST00000299687.5	37	c.5960	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893860	0.52121	.	.	ENSG00000215421	ENST00000299687	T	0.16196	2.36	4.17	4.17	0.49024	.	.	.	.	.	T	0.41190	0.1148	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.37526	-0.9702	9	0.87932	D	0	.	16.6982	0.85341	0.0:1.0:0.0:0.0	.	1987	Q9C0G0	ZN407_HUMAN	L	1987	ENSP00000299687:S1987L	ENSP00000299687:S1987L	S	+	2	0	ZNF407	70904625	1.000000	0.71417	0.086000	0.20670	0.050000	0.14768	6.672000	0.74477	-3.459000	0.00159	0.459000	0.35465	TCA	ZNF407	-	NULL		0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	C	NM_017757		72775637	1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.033	T	T	72775637	C	T	72775637	3	4	117	1	0	0	0	0	1	0	0	0	17917	838	29	1	6120	1	ZNF407	18	72775637	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	661625	72775637	5301611	1174	18642										
ZNF236	7776	genome.wustl.edu	37	chr18	74593360	74593360	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgtttccagcgtttcaaatGagcagacggaccccacagac	9	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:74593360G>T	ENST00000253159.8	+	9	1501	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E437*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	435					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGTTTCAAATGAGCAGACGGA	0.463																																																	0													92	93	93					18																	74593360		1930	4156	6086	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1303G>T	18.37:g.74593360G>T	ENSP00000253159:p.Glu435*		B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E435*	ENST00000253159.8	37	c.1303	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	38	7.201269	0.98132	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	4.8	3.85	0.44370	.	0.534660	0.19296	N	0.117754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	12.5085	0.55995	0.0:0.373:0.627:0.0	.	.	.	.	X	435	.	ENSP00000253159:E435X	E	+	1	0	ZNF236	72722348	0.989000	0.36119	0.072000	0.20136	0.527000	0.34593	2.388000	0.44398	2.376000	0.81061	0.557000	0.71058	GAG	ZNF236	-	NULL		0.463	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74593360	1	no_errors	ENST00000253159	ensembl	human	known	70_37	nonsense	SNP	0.942	T	T	74593360	G	T	74593360	4	4	117	1	0	0	0	0	0	1	0	0	17819	1291	45	3	1337	3	ZNF236	18	74593360	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1817723	74593360	3483888	1175	18643										
MADCAM1	8174	genome.wustl.edu	37	chr19	498693	498693	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggaggagccccagggggacGaggacgtgctgttcagggtg	20	8	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:498693G>T	ENST00000215637.3	+	3	581	c.535G>T	c.(535-537)Gag>Tag	p.E179*	MADCAM1_ENST00000346144.4_Nonsense_Mutation_p.E179*|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Nonsense_Mutation_p.E84*|MADCAM1_ENST00000587541.1_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	179	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGACGAGGACGTGCT	0.731																																																	0													7	8	8					19																	498693		2140	4223	6363	SO:0001587	stop_gained	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.535G>T	19.37:g.498693G>T	ENSP00000215637:p.Glu179*		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Nonsense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like	p.E179*	ENST00000215637.3	37	c.535	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775194	0.31411	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	.	.	.	3.69	2.57	0.30868	.	1.372870	0.04636	N	0.404582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-16.9674	8.1521	0.31148	0.0:0.2753:0.7247:0.0	.	.	.	.	X	179;179;179;179;179;84	.	ENSP00000215637:E179X	E	+	1	0	MADCAM1	449693	0.966000	0.33281	0.108000	0.21378	0.008000	0.06430	1.728000	0.38105	1.912000	0.55364	0.561000	0.74099	GAG	MADCAM1	-	pfam_Adhes-Ig-like		0.731	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	G	NM_130760		498693	1	no_errors	ENST00000215637	ensembl	human	known	70_37	nonsense	SNP	0.053	T	T	498693	G	T	498693	4	4	117	1	0	0	0	0	0	1	0	0	9174	1059	37	3	545	3	MADCAM1	19	498693	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		498693	58630290	1176	18644										
PTBP1	5725	genome.wustl.edu	37	chr19	808419	808419	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ataagaaggagaacgccctaGtgcagatggcggacggcaac	14	9	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:808419G>C	ENST00000349038.4	+	11	1208	c.1135G>C	c.(1135-1137)Gtg>Ctg	p.V379L	PTBP1_ENST00000394601.4_Missense_Mutation_p.V398L|PTBP1_ENST00000350092.4_Missense_Mutation_p.V45L|PTBP1_ENST00000356948.6_Missense_Mutation_p.V405L	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	379	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACGCCCTAGTGCAGATGGC	0.677																																																	0													23	21	22					19																	808419		2195	4296	6491	SO:0001583	missense	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1135G>C	19.37:g.808419G>C	ENSP00000014112:p.Val379Leu		Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.V405L	ENST00000349038.4	37	c.1213	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782725	0.49891	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.64085	-0.08;2.32;0.1;0.59	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.064551	0.64402	D	0.000011	T	0.74145	0.3678	M	0.88640	2.97	0.80722	D	1	B;B;B;B	0.15141	0.009;0.005;0.012;0.002	B;B;B;B	0.35727	0.209;0.072;0.105;0.072	T	0.75371	-0.3341	10	0.49607	T	0.09	-47.1287	16.7646	0.85521	0.0:0.0:1.0:0.0	.	45;379;398;405	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	L	405;398;379;45	ENSP00000349428:V405L;ENSP00000408096:V398L;ENSP00000014112:V379L;ENSP00000342332:V45L	ENSP00000014112:V379L	V	+	1	0	PTBP1	759419	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	3.789000	0.55454	2.198000	0.70561	0.455000	0.32223	GTG	PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	G			808419	1	no_errors	ENST00000356948	ensembl	human	known	70_37	missense	SNP	1.000	C	C	808419	G	C	808419	3	2	117	1	0	0	0	0	1	0	0	0	12752	1029	36	4	1259	4	PTBP1	19	808419	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	309726	808419	58320564	1177	18645										
MEX3D	399664	genome.wustl.edu	37	chr19	1567479	1567479	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaccctggcgacccacgatCtcggcgacgtgctcggagct	12	16	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:1567479C>G	ENST00000402693.4	-	1	578	c.579G>C	c.(577-579)gaG>gaC	p.E193D	MEX3D_ENST00000388824.6_Missense_Mutation_p.E193D	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	193	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCACGATCTCGGCGACGT	0.711																																																	0													36	22	27					19																	1567479		2189	4288	6477	SO:0001583	missense	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.579G>C	19.37:g.1567479C>G	ENSP00000384398:p.Glu193Asp		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E193D	ENST00000402693.4	37	c.579	CCDS32865.2	19	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683616	0.68157	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	T;T	0.28895	1.59;1.59	3.05	1.96	0.26148	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.160600	0.40302	U	0.001128	T	0.46737	0.1408	M	0.64997	1.995	0.44736	D	0.997736	D	0.89917	1.0	D	0.91635	0.999	T	0.43376	-0.9395	10	0.59425	D	0.04	.	8.2342	0.31616	0.0:0.8645:0.0:0.1355	.	193	Q86XN8	MEX3D_HUMAN	D	83;193;193	ENSP00000384398:E193D;ENSP00000373476:E193D	ENSP00000347885:E83D	E	-	3	2	MEX3D	1518479	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.124000	0.31320	1.245000	0.43885	0.205000	0.17691	GAG	MEX3D	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.711	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	C	NM_203304		1567479	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1567479	C	G	1567479	3	3	117	1	0	0	0	0	1	0	0	0	9535	912	32	1	1447	1	MEX3D	19	1567479	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	759060	1567479	57561504	1178	18646										
MBD3	53615	genome.wustl.edu	37	chr19	1578486	1578486	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcgccagcatgtcggccatCagcgcctcctccagccgctt	10	18	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:1578486C>T	ENST00000434436.3	-	6	858	c.729G>A	c.(727-729)ctG>ctA	p.L243L	MBD3_ENST00000590550.2_Silent_p.L187L|MBD3_ENST00000585967.1_5'Flank|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Silent_p.L243L|MBD3_ENST00000592012.1_Silent_p.L211L	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	243					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGCCATCAGCGCCTCCT	0.672																																																	0													67	69	68					19																	1578486		2203	4300	6503	SO:0001819	synonymous_variant	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.729G>A	19.37:g.1578486C>T			A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L243	ENST00000434436.3	37	c.729	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold		0.672	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	C	NM_003926		1578486	-1	no_errors	ENST00000156825	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1578486	C	T	1578486	2	4	117	1	0	0	0	0	0	0	0	1	9367	813	29	1		1	MBD3	19	1578486	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	11007	1578486	57550497	1179	18647										
MATK	4145	genome.wustl.edu	37	chr19	3784450	3784450	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgcccggggcccagcgcctCtgcagagggggccgggagag	20	13	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:3784450C>T	ENST00000310132.6	-	4	531		c.e4-1		MATK_ENST00000395045.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395040.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCGCCTCTGCAGAGGGG	0.657																																																	0													10	11	10					19																	3784450		2191	4287	6478	SO:0001630	splice_region_variant	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.133-1G>A	19.37:g.3784450C>T			B3KNZ9|Q9NST8	Splice_Site	SNP	-	e3-1	ENST00000310132.6	37	c.136-1	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	c	17.46	3.394692	0.62066	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8812	0.86063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MATK	3735450	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	6.471000	0.73562	2.219000	0.72066	0.457000	0.33378	.	MATK	-	-		0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	C	NM_139355	Intron	3784450	-1	no_errors	ENST00000395045	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	3784450	C	T	3784450	5	4	117	1	0	0	0	0	0	0	1	0	9355	927	32	1	1435	1	MATK	19	3784450	Splice_Site	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2205964	3784450	55344533	1180	18648										
ANKRD24	170961	genome.wustl.edu	37	chr19	4217321	4217321	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagaggcctcggaaaagcttCaagtagagctggagaccagg	14	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4217321C>T	ENST00000600132.1	+	18	2440	c.2164C>T	c.(2164-2166)Caa>Taa	p.Q722*	ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q812*|ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q722*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	722										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGAAAAGCTTCAAGTAGAGCT	0.667																																																	0													11	14	13					19																	4217321		1927	3970	5897	SO:0001587	stop_gained	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2164C>T	19.37:g.4217321C>T	ENSP00000471252:p.Gln722*		O75268|O95781	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q722*	ENST00000600132.1	37	c.2164	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.583051	0.97684	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	4.07	4.07	0.47477	.	0.000000	0.30446	U	0.009610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1374	12.1315	0.53946	0.0:0.825:0.175:0.0	.	.	.	.	X	722;812	.	ENSP00000262970:Q812X	Q	+	1	0	ANKRD24	4168321	0.039000	0.19947	0.762000	0.31397	0.735000	0.41995	0.810000	0.27183	2.282000	0.76494	0.407000	0.27541	CAA	ANKRD24	-	NULL		0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	C	XM_114000		4217321	1	no_errors	ENST00000318934	ensembl	human	known	70_37	nonsense	SNP	0.973	T	T	4217321	C	T	4217321	4	4	117	1	0	0	0	0	0	1	0	0	653	827	29	1	2230	1	ANKRD24	19	4217321	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	432871	4217321	54911662	1181	18649										
PLIN4	729359	genome.wustl.edu	37	chr19	4516671	4516671	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctccgtccatggggccgtCtgctctgggtgggcagccac	14	14	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4516671C>G	ENST00000301286.3	-	2	170	c.171G>C	c.(169-171)caG>caC	p.Q57H		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	57						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ATGGGGCCGTCTGCTCTGGGT	0.637																																																	0													28	34	32					19																	4516671		2018	4162	6180	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.171G>C	19.37:g.4516671C>G	ENSP00000301286:p.Gln57His		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.Q57H	ENST00000301286.3	37	c.171	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	8.930	0.963237	0.18583	.	.	ENSG00000167676	ENST00000301286	T	0.03580	3.88	2.66	2.66	0.31614	.	.	.	.	.	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	B	0.43783	0.431	T	0.48885	-0.8995	9	0.48119	T	0.1	.	9.0324	0.36267	0.0:1.0:0.0:0.0	.	57	Q96Q06	PLIN4_HUMAN	H	57	ENSP00000301286:Q57H	ENSP00000301286:Q57H	Q	-	3	2	PLIN4	4467671	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	1.923000	0.40055	1.834000	0.53371	0.485000	0.47835	CAG	PLIN4	-	NULL		0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4516671	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.012	G	G	4516671	C	G	4516671	3	3	117	1	0	0	0	0	1	0	0	0	12116	912	32	1	3922	1	PLIN4	19	4516671	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	299350	4516671	54612312	1182	18650										
LRG1	116844	genome.wustl.edu	37	chr19	4538053	4538053	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcttgtctttttgggcctGaagccaacgatagaggtcgc	11	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4538053G>C	ENST00000306390.6	-	2	1403	c.943C>G	c.(943-945)Cag>Gag	p.Q315E	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000381848.3_5'Flank|PLIN5_ENST00000586133.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGGGCCTGAAGCCAACGA	0.587																																																	0													70	65	67					19																	4538053		2203	4300	6503	SO:0001583	missense	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.943C>G	19.37:g.4538053G>C	ENSP00000302621:p.Gln315Glu		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q315E	ENST00000306390.6	37	c.943	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	0.155	-1.087111	0.01873	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.52295	0.67	5.24	-10.5	0.00291	Cysteine-rich flanking region, C-terminal (1);	2.126340	0.02965	N	0.143643	T	0.18551	0.0445	N	0.04768	-0.165	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.09422	-1.0675	10	0.19147	T	0.46	-1.5729	3.7741	0.08653	0.2143:0.4963:0.1409:0.1485	.	315	P02750	A2GL_HUMAN	E	315;298	ENSP00000302621:Q315E	ENSP00000302621:Q315E	Q	-	1	0	LRG1	4489053	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.681000	0.01937	-2.565000	0.00471	-2.225000	0.00294	CAG	LRG1	-	smart_Cys-rich_flank_reg_C		0.587	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	G	NM_052972		4538053	-1	no_errors	ENST00000306390	ensembl	human	known	70_37	missense	SNP	0.000	C	C	4538053	G	C	4538053	3	2	117	1	0	0	0	0	1	0	0	0	8965	1299	45	1	104	1	LRG1	19	4538053	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	21382	4538053	54590930	1183	18651										
TICAM1	148022	genome.wustl.edu	37	chr19	4816833	4816833	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggccaccttcctggcgaaGatctgggagtgttcgtccag	13	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4816833G>A	ENST00000248244.5	-	2	1786	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	519	Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTGGCGAAGATCTGGGAGT	0.657																																																	0													44	36	39					19																	4816833		2203	4300	6503	SO:0001819	synonymous_variant	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1557C>T	19.37:g.4816833G>A			B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.I519	ENST00000248244.5	37	c.1557	CCDS12136.1	19																																																																																			TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4816833	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	silent	SNP	0.960	A	A	4816833	G	A	4816833	2	1	117	1	0	0	0	0	0	0	0	1	15922	932	33	1		1	TICAM1	19	4816833	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	278780	4816833	54312150	1184	18652										
TICAM1	148022	genome.wustl.edu	37	chr19	4817190	4817190	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgttcgtctgccctggcgtgGaggatcacaaagttatagaa	12	8	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4817190G>C	ENST00000248244.5	-	2	1429	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	400	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTGGCGTGGAGGATCACAA	0.582																																																	0													41	42	42					19																	4817190		2203	4300	6503	SO:0001819	synonymous_variant	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1200C>G	19.37:g.4817190G>C			B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.L400	ENST00000248244.5	37	c.1200	CCDS12136.1	19																																																																																			TICAM1	-	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.582	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4817190	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	silent	SNP	0.969	C	C	4817190	G	C	4817190	2	2	117	1	0	0	0	0	0	0	0	1	15922	1161	41	1		1	TICAM1	19	4817190	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	357	4817190	54311793	1185	18653										
TICAM1	148022	genome.wustl.edu	37	chr19	4817906	4817906	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggatggtgggaggcagcccaGattggactggagcgtccgga	19	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4817906G>C	ENST00000248244.5	-	2	713	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	162				L -> S (in Ref. 6; AAO85488). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCAGCCCAGATTGGACTGG	0.657																																																	0													95	94	94					19																	4817906		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.484C>G	19.37:g.4817906G>C	ENSP00000248244:p.Leu162Val		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.L162V	ENST00000248244.5	37	c.484	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	g	8.429	0.848165	0.17034	.	.	ENSG00000127666	ENST00000248244	T	0.46819	0.86	4.66	-0.475	0.12104	.	2.606920	0.02314	N	0.072425	T	0.32882	0.0844	L	0.28274	0.84	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.11991	-1.0565	10	0.14252	T	0.57	-0.2065	6.6336	0.22872	0.0:0.2504:0.3308:0.4188	.	162	Q8IUC6	TCAM1_HUMAN	V	162	ENSP00000248244:L162V	ENSP00000248244:L162V	L	-	1	2	TICAM1	4768906	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	0.160000	0.16462	0.460000	0.27045	0.305000	0.20034	CTG	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4817906	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	0.000	C	C	4817906	G	C	4817906	3	2	117	1	0	0	0	0	1	0	0	0	15922	933	33	1	1658	1	TICAM1	19	4817906	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	716	4817906	54311077	1186	18654										
KDM4B	23030	genome.wustl.edu	37	chr19	5134045	5134045	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acggagccctactgcgccatCtgcacgctcttctaccccta	7	18	3	0	rs373764792		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:5134045C>G	ENST00000159111.4	+	14	2276	c.2058C>G	c.(2056-2058)atC>atG	p.I686M	KDM4B_ENST00000536461.1_Missense_Mutation_p.I720M	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	686					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTGCGCCATCTGCACGCTCT	0.697																																																	0													68	79	76					19																	5134045		2203	4299	6502	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2058C>G	19.37:g.5134045C>G	ENSP00000159111:p.Ile686Met		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.I686M	ENST00000159111.4	37	c.2058	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910688	0.33721	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.57595	0.39;0.39	3.98	2.9	0.33743	.	0.556571	0.19045	N	0.124195	T	0.58308	0.2113	M	0.67397	2.05	0.35040	D	0.759688	P;P	0.46395	0.739;0.877	P;B	0.48400	0.576;0.293	T	0.71517	-0.4569	10	0.87932	D	0	-24.8367	12.3269	0.55015	0.0:0.6725:0.3275:0.0	.	720;686	F5GX28;O94953	.;KDM4B_HUMAN	M	686;720	ENSP00000159111:I686M;ENSP00000440495:I720M	ENSP00000159111:I686M	I	+	3	3	KDM4B	5085045	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	2.394000	0.44450	0.747000	0.32809	0.561000	0.74099	ATC	KDM4B	-	NULL		0.697	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5134045	1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5134045	C	G	5134045	3	3	117	1	0	0	0	0	1	0	0	0	8149	903	32	1	2104	1	KDM4B	19	5134045	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	316139	5134045	53994938	1187	18655										
RANBP3	8498	genome.wustl.edu	37	chr19	5928059	5928059	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttctcacaggcttcctcttCagaggcattgctggactcat	8	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:5928059C>G	ENST00000340578.6	-	9	790	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q	RANBP3_ENST00000541471.1_Missense_Mutation_p.E117Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.E172Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E240Q|RANBP3_ENST00000034275.8_Missense_Mutation_p.E177Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	245					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTTCCTCTTCAGAGGCATTG	0.468																																																	0													117	119	118					19																	5928059		1879	4099	5978	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.733G>C	19.37:g.5928059C>G	ENSP00000341483:p.Glu245Gln		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.E245Q	ENST00000340578.6	37	c.733	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401465	0.11696	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.35048	1.33;1.4;2.08;1.35	5.3	0.866	0.19079	.	1.060160	0.07177	N	0.853323	T	0.30727	0.0774	L	0.51422	1.61	0.09310	N	1	P;B;B;B;P;B;B	0.35348	0.496;0.363;0.363;0.242;0.496;0.355;0.363	B;B;B;B;B;B;B	0.36845	0.165;0.118;0.059;0.081;0.234;0.234;0.118	T	0.27088	-1.0084	10	0.17832	T	0.49	-4.7248	7.0218	0.24918	0.0:0.5599:0.0:0.4401	.	117;240;117;172;177;240;245	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	Q	245;240;177;176;117	ENSP00000341483:E245Q;ENSP00000404837:E240Q;ENSP00000034275:E177Q;ENSP00000445071:E117Q	ENSP00000034275:E177Q	E	-	1	0	RANBP3	5879059	0.997000	0.39634	0.002000	0.10522	0.038000	0.13279	3.075000	0.50073	0.627000	0.30340	0.655000	0.94253	GAA	RANBP3	-	NULL		0.468	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	C	NM_007322		5928059	-1	no_errors	ENST00000340578	ensembl	human	known	70_37	missense	SNP	0.003	G	G	5928059	C	G	5928059	3	3	117	1	0	0	0	0	1	0	0	0	13059	835	29	1	1006	1	RANBP3	19	5928059	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	794014	5928059	53200924	1188	18656										
PSPN	5623	genome.wustl.edu	37	chr19	6375622	6375622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggcgggcaagggggcggtGggtgcctgtgggagggaagg	25	6	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:6375622G>A	ENST00000245810.1	-	2	153	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	PSPN_ENST00000597721.1_Missense_Mutation_p.P80L	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	52					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						AGGGGGCGGTGGGTGCCTGTG	0.667																																																	0													23	21	22					19																	6375622		2192	4289	6481	SO:0001583	missense	5623			AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"Endogenous ligands"	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.154C>T	19.37:g.6375622G>A	ENSP00000245810:p.His52Tyr			Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.H52Y	ENST00000245810.1	37	c.154	CCDS12164.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271895|1.271895	0.23221|0.23221	.|.	.|.	ENSG00000125650|ENSG00000125650	ENST00000245810|ENST00000545374	D|.	0.88277|.	-2.36|.	2.27|2.27	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.08118|0.08118	0|0	0.22001|0.22001	N|N	0.999425|0.999425	B|.	0.22541|.	0.071|.	B|.	0.22880|.	0.042|.	T|T	0.23797|0.23797	-1.0178|-1.0178	9|6	0.48119|0.87932	T|D	0.1|0	-23.9824|-23.9824	7.2462|7.2462	0.26124|0.26124	0.0:0.2777:0.7223:0.0|0.0:0.2777:0.7223:0.0	.|.	52|.	O60542|.	PSPN_HUMAN|.	Y|L	52|80	ENSP00000245810:H52Y|.	ENSP00000245810:H52Y|ENSP00000438257:P80L	H|P	-|-	1|2	0|0	PSPN|PSPN	6326622|6326622	0.001000|0.001000	0.12720|0.12720	0.042000|0.042000	0.18584|0.18584	0.065000|0.065000	0.16274|0.16274	0.114000|0.114000	0.15520|0.15520	0.215000|0.215000	0.20761|0.20761	0.313000|0.313000	0.20887|0.20887	CAC|CCA	PSPN	-	NULL		0.667	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPN	HGNC	protein_coding	OTTHUMT00000398032.1	G	NM_004158		6375622	-1	no_errors	ENST00000245810	ensembl	human	known	70_37	missense	SNP	0.956	A	A	6375622	G	A	6375622	3	1	117	1	0	0	0	0	1	0	0	0	12745	1348	47	4	319	4	PSPN	19	6375622	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	447563	6375622	52753361	1189	18657										
TUBB4	10382	genome.wustl.edu	37	chr19	6495889	6495889	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgcggaaacagatgtcgtaGagtgcctcgttgtcgatgca	14	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:6495889G>C	ENST00000264071.2	-	4	992	c.621C>G	c.(619-621)ctC>ctG	p.L207L	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.L207L			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	207					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AGATGTCGTAGAGTGCCTCGT	0.607																																																	0													250	173	199					19																	6495889		2203	4300	6503	SO:0001819	synonymous_variant	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.621C>G	19.37:g.6495889G>C			B3KQP4|Q969E5	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.L207	ENST00000264071.2	37	c.621	CCDS12168.1	19																																																																																			TUBB4A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin		0.607	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	G	NM_006087		6495889	-1	no_errors	ENST00000264071	ensembl	human	known	70_37	silent	SNP	0.971	C	C	6495889	G	C	6495889	2	2	117	1	0	0	0	0	0	0	0	1	16789	929	33	1		1	TUBB4	19	6495889	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	120267	6495889	52633094	1190	18658										
C3	718	genome.wustl.edu	37	chr19	6678219	6678219	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacatgaggtagtgtttcttCtcctccagcttcagggcttc	9	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:6678219C>G	ENST00000245907.6	-	40	4886	c.4794G>C	c.(4792-4794)gaG>gaC	p.E1598D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1598	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.E1598delE(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGTGTTTCTTCTCCTCCAGCT	0.617																																																	1	Deletion - In frame(1)	large_intestine(1)											79	63	68					19																	6678219		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4794G>C	19.37:g.6678219C>G	ENSP00000245907:p.Glu1598Asp		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E1598D	ENST00000245907.6	37	c.4794	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.380065	0.05000	.	.	ENSG00000125730	ENST00000245907	T	0.23950	1.88	5.24	-10.5	0.00291	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	2.818820	0.01517	U	0.018205	T	0.13670	0.0331	L	0.43598	1.365	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.27262	-1.0079	10	0.14252	T	0.57	.	0.5022	0.00581	0.2244:0.1732:0.2405:0.3619	.	1598;1033	P01024;B4E216	CO3_HUMAN;.	D	1598	ENSP00000245907:E1598D	ENSP00000245907:E1598D	E	-	3	2	C3	6629219	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.543000	0.00934	-1.830000	0.01199	-1.579000	0.00862	GAG	C3	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6678219	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.000	G	G	6678219	C	G	6678219	3	3	117	1	0	0	0	0	1	0	0	0	2209	912	32	1	205	1	C3	19	6678219	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	182330	6678219	52450764	1191	18659										
ZNF358	140467	genome.wustl.edu	37	chr19	7585260	7585260	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgagcgtccctatcgctgtCagctctgcgggaaggccttc	13	14	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:7585260C>T	ENST00000597229.1	+	2	1302	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Nonsense_Mutation_p.Q378*|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	378					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTATCGCTGTCAGCTCTGCGG	0.697																																																	0													25	26	26					19																	7585260		2191	4283	6474	SO:0001587	stop_gained	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1132C>T	19.37:g.7585260C>T	ENSP00000472305:p.Gln378*		Q9BTM7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q378*	ENST00000597229.1	37	c.1132	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	37	6.175305	0.97348	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	.	.	.	3.97	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-19.8575	7.7153	0.28700	0.0:0.8862:0.0:0.1138	.	.	.	.	X	378	.	ENSP00000354703:Q378X	Q	+	1	0	ZNF358	7491260	0.000000	0.05858	1.000000	0.80357	0.966000	0.64601	0.115000	0.15540	1.274000	0.44362	0.462000	0.41574	CAG	ZNF358	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	C			7585260	1	no_errors	ENST00000394341	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7585260	C	T	7585260	4	4	117	1	0	0	0	0	0	1	0	0	17897	827	29	1	1134	1	ZNF358	19	7585260	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	907041	7585260	51543723	1192	18660										
FBN3	84467	genome.wustl.edu	37	chr19	8182454	8182454	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggggacacaggccatcactCagggagcactcatcgatgtc	12	12	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:8182454C>T	ENST00000600128.1	-	27	3771	c.3357G>A	c.(3355-3357)ctG>ctA	p.L1119L	FBN3_ENST00000601739.1_Silent_p.L1119L|FBN3_ENST00000270509.2_Silent_p.L1119L			Q75N90	FBN3_HUMAN	fibrillin 3	1119	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCATCACTCAGGGAGCACT	0.612																																																	0													58	42	47					19																	8182454		2190	4275	6465	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3357G>A	19.37:g.8182454C>T			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.L1119	ENST00000600128.1	37	c.3357	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	C	NM_032447		8182454	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8182454	C	T	8182454	2	4	117	1	0	0	0	0	0	0	0	1	5722	813	29	1		1	FBN3	19	8182454	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	597194	8182454	50946529	1193	18661										
RDH8	50700	genome.wustl.edu	37	chr19	10131965	10131965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agccaggccccgtggtcaccGagtttgaggggaagcttctg	15	11	2	1	rs142734308		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:10131965G>A	ENST00000171214.1	+	5	820	c.571G>A	c.(571-573)Gag>Aag	p.E191K	RDH8_ENST00000591589.1_Missense_Mutation_p.E211K	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	191					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CGTGGTCACCGAGTTTGAGGG	0.587																																																	0								G	LYS/GLU	0,4406		0,0,2203	70	67	68		571	4.1	0.1	19	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	missense	RDH8	NM_015725.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	191/312	10131965	2,13004	2203	4300	6503	SO:0001583	missense	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.571G>A	19.37:g.10131965G>A	ENSP00000171214:p.Glu191Lys		Q9H838	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E211K	ENST00000171214.1	37	c.631		19	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405789	0.62288	0.0	2.33E-4	ENSG00000080511	ENST00000171214	D	0.93604	-3.25	5.17	4.13	0.48395	NAD(P)-binding domain (1);	0.329918	0.35151	N	0.003408	D	0.92044	0.7479	M	0.78049	2.395	0.43531	D	0.995812	P	0.39624	0.681	B	0.38264	0.269	D	0.90380	0.4387	10	0.41790	T	0.15	.	11.0447	0.47852	0.0909:0.0:0.9091:0.0	.	191	Q9NYR8	RDH8_HUMAN	K	191	ENSP00000171214:E191K	ENSP00000171214:E191K	E	+	1	0	RDH8	9992965	1.000000	0.71417	0.107000	0.21349	0.961000	0.63080	4.919000	0.63383	1.186000	0.42985	0.462000	0.41574	GAG	RDH8	-	pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH		0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	RDH8	HGNC	protein_coding		G			10131965	1	no_errors	ENST00000591589	ensembl	human	known	70_37	missense	SNP	0.979	A	A	10131965	G	A	10131965	3	1	117	1	0	0	0	0	1	0	0	0	13226	1059	37	1	589	1	RDH8	19	10131965	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1949511	10131965	48997018	1194	18662										
KANK2	25959	genome.wustl.edu	37	chr19	11303634	11303634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgcggaacacaggtgggctCtcaggcctaccaggcattgc	13	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:11303634C>G	ENST00000586659.1	-	4	1436	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	KANK2_ENST00000432929.2_Missense_Mutation_p.E374D|KANK2_ENST00000355150.5_Missense_Mutation_p.E374D|KANK2_ENST00000589359.1_Missense_Mutation_p.E374D|KANK2_ENST00000589894.1_Missense_Mutation_p.E374D			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	374					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGGTGGGCTCTCAGGCCTAC	0.647																																																	0													63	67	65					19																	11303634		2203	4300	6503	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1122G>C	19.37:g.11303634C>G	ENSP00000465650:p.Glu374Asp		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E374D	ENST00000586659.1	37	c.1122	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495921	0.44352	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37058	1.22;1.22	4.11	4.11	0.48088	.	0.397901	0.20818	N	0.085116	T	0.35885	0.0947	L	0.56769	1.78	0.30026	N	0.813925	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.13407	0.003;0.002;0.009	T	0.28490	-1.0042	10	0.30078	T	0.28	-29.9165	15.1136	0.72380	0.0:1.0:0.0:0.0	.	374;374;374	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	D	374	ENSP00000395650:E374D;ENSP00000347276:E374D	ENSP00000347276:E374D	E	-	3	2	KANK2	11164634	0.744000	0.28250	0.704000	0.30370	0.062000	0.15995	1.510000	0.35790	1.834000	0.53371	0.462000	0.41574	GAG	KANK2	-	NULL		0.647	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	C	NM_015493		11303634	-1	no_errors	ENST00000432929	ensembl	human	known	70_37	missense	SNP	0.837	G	G	11303634	C	G	11303634	3	3	117	1	0	0	0	0	1	0	0	0	7997	912	32	1	1497	1	KANK2	19	11303634	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1171669	11303634	47825349	1195	18663										
KANK2	25959	genome.wustl.edu	37	chr19	11303837	11303838	+	Nonsense_Mutation	DNP	GA	GA	AG													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggtcagcctgccgggcctGagctgcctgcagctcctgca							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:11303837_11303838GA>AG	ENST00000586659.1	-	4	1232_1233	c.918_919TC>CT	c.(916-921)gcTCag>gcCTag	p.Q307*	KANK2_ENST00000432929.2_Nonsense_Mutation_p.Q307*|KANK2_ENST00000355150.5_Nonsense_Mutation_p.Q307*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.Q307*|KANK2_ENST00000589894.1_Nonsense_Mutation_p.Q307*			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	307					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCCGGGCCTGAGCTGCCTGCA	0.703																																																	0																																										SO:0001587	stop_gained	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.918_919delinsAG	19.37:g.11303837_11303838delinsAG	ENSP00000465650:p.Gln307*		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Nonsense_Mutation|Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q307*|p.A306	ENST00000586659.1	37	c.919|c.918	CCDS12255.1	19																																																																																			KANK2	-	NULL		0.703	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	G|A	NM_015493		11303837|11303838	-1	no_errors	ENST00000432929	ensembl	human	known	70_37	nonsense|silent	SNP	0.996|0.976	A|G	AG	11303838	GA	AG	11303837	4	1	117	1	0	0	0	0	0	1	0	0	7997	1299	45	1	1700	1	KANK2	19	11303837	Nonsense_Mutation	DNP	GA	TCGA-EK-A3GK-01A-11D-A20U-09	203	11303837	47825146	1196	18664										
ZNF799	90576	genome.wustl.edu	37	chr19	12502923	12502923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atatggacctactccaggaaGagtgttcttggtcacaatac	9	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:12502923G>A	ENST00000430385.3	-	4	489	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.L65F|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.L97F	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACTCCAGGAAGAGTGTTCTTG	0.418																																																	0													113	106	108					19																	12502923		2203	4300	6503	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.289C>T	19.37:g.12502923G>A	ENSP00000411084:p.Leu97Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L97F	ENST00000430385.3	37	c.289	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	G	1.508	-0.550298	0.03996	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08370	3.1;3.23	0.846	-1.64	0.08318	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	P	0.46706	0.883	B	0.44044	0.439	T	0.32107	-0.9919	9	0.59425	D	0.04	.	4.0492	0.09786	0.5005:0.0:0.4995:0.0	.	97	Q96GE5	ZN799_HUMAN	F	65;97	ENSP00000415278:L65F;ENSP00000411084:L97F	ENSP00000415278:L65F	L	-	1	0	ZNF799	12363923	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-2.949000	0.00679	-0.654000	0.05394	0.195000	0.17529	CTT	ZNF799	-	NULL		0.418	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	G	NM_001080821		12502923	-1	no_errors	ENST00000430385	ensembl	human	known	70_37	missense	SNP	0.001	A	A	12502923	G	A	12502923	3	1	117	1	0	0	0	0	1	0	0	0	18196	942	33	1	1646	1	ZNF799	19	12502923	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1199086	12502923	46626060	1197	18665										
LPHN1	22859	genome.wustl.edu	37	chr19	14270986	14270986	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagggcctgcagctgggcatCcaggatgtccagcagctgct	14	13	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14270986C>G	ENST00000340736.6	-	9	2050	c.1753G>C	c.(1753-1755)Gat>Cat	p.D585H	LPHN1_ENST00000361434.3_Missense_Mutation_p.D580H|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	585					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGGGCATCCAGGATGTCC	0.667																																																	0													45	52	49					19																	14270986		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1753G>C	19.37:g.14270986C>G	ENSP00000340688:p.Asp585His		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D585H	ENST00000340736.6	37	c.1753	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656404	0.88056	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.11063	2.81;2.81	5.26	5.26	0.73747	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.972	T	0.01476	-1.1345	10	0.87932	D	0	.	16.7274	0.85426	0.0:1.0:0.0:0.0	.	580;585	O94910-2;O94910	.;LPHN1_HUMAN	H	585;580	ENSP00000340688:D585H;ENSP00000355328:D580H	ENSP00000340688:D585H	D	-	1	0	LPHN1	14131986	1.000000	0.71417	0.999000	0.59377	0.832000	0.47134	7.776000	0.85560	2.618000	0.88619	0.561000	0.74099	GAT	LPHN1	-	pfam_DUF3497		0.667	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14270986	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	missense	SNP	1.000	G	G	14270986	C	G	14270986	3	3	117	1	0	0	0	0	1	0	0	0	8938	855	30	1	2735	1	LPHN1	19	14270986	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1768063	14270986	44857997	1198	18666										
CD97	976	genome.wustl.edu	37	chr19	14517894	14517894	+	Silent	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgctgaccatcacggccatCgcgcagctcttcctgttggg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14517894C>T	ENST00000242786.5	+	18	2309	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.I694I|CD97_ENST00000358600.3_Silent_p.I650I|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	743					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCACGGCCATCGCGCAGCTCT	0.637																																																	0													114	81	92					19																	14517894		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2229C>T	19.37:g.14517894C>T			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.I743	ENST00000242786.5	37	c.2229	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.637	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14517894	1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.149	T	T	14517894	C	T	14517894	2	4	117	1	0	0	0	0	0	0	0	1	3054	874	31	1		1	CD97	19	14517894	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	246908	14517894	44611089	1199	18667	107	2								
CD97	976	genome.wustl.edu	37	chr19	14517903	14517903	+	Silent	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcacggccatcgcgcagctCttcctgttgggctgcacctg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14517903C>T	ENST00000242786.5	+	18	2318	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.L697L|CD97_ENST00000358600.3_Silent_p.L653L|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	746					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCGCGCAGCTCTTCCTGTTGG	0.647																																																	0													130	93	105					19																	14517903		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2238C>T	19.37:g.14517903C>T			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L746	ENST00000242786.5	37	c.2238	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.647	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14517903	1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14517903	C	T	14517903	2	4	117	1	0	0	0	0	0	0	0	1	3054	900	32	1		1	CD97	19	14517903	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9	14517903	44611080	1200	18668	107	2								
CD97	976	genome.wustl.edu	37	chr19	14518909	14518909	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctctcctctccaggccctCagggcatcagagtccggcat	11	16	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14518909C>T	ENST00000242786.5	+	20	2564	c.2484C>T	c.(2482-2484)ctC>ctT	p.L828L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.L779L|CD97_ENST00000358600.3_Silent_p.L735L|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	828					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCCAGGCCCTCAGGGCATCAG	0.652																																																	0													48	51	50					19																	14518909		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2484C>T	19.37:g.14518909C>T			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L828	ENST00000242786.5	37	c.2484	CCDS32929.1	19																																																																																			CD97	-	NULL		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14518909	1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.998	T	T	14518909	C	T	14518909	2	4	117	1	0	0	0	0	0	0	0	1	3054	813	29	1		1	CD97	19	14518909	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1006	14518909	44610074	1201	18669										
CLEC17A	388512	genome.wustl.edu	37	chr19	14710943	14710943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggatgaggcccggatgttCtgccaggagaattactctca	13	9	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14710943C>T	ENST00000417570.1	+	12	881	c.843C>T	c.(841-843)ttC>ttT	p.F281F	CLEC17A_ENST00000397439.2_Silent_p.F264F|CLEC17A_ENST00000547437.1_Silent_p.F281F	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	281	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CCCGGATGTTCTGCCAGGAGA	0.522																																																	0													74	72	73					19																	14710943		1978	4170	6148	SO:0001819	synonymous_variant	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.843C>T	19.37:g.14710943C>T			A8MX68|B2RTX0|B7ZMM4	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.F281	ENST00000417570.1	37	c.843	CCDS56087.1	19																																																																																			CLEC17A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.522	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	C	NM_207390		14710943	1	no_errors	ENST00000417570	ensembl	human	known	70_37	silent	SNP	0.995	T	T	14710943	C	T	14710943	2	4	117	1	0	0	0	0	0	0	0	1	3506	912	32	1		1	CLEC17A	19	14710943	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	192034	14710943	44418040	1202	18670										
SLC35E1	79939	genome.wustl.edu	37	chr19	16677459	16677459	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagatggtggatccgtgaatCtcgcaagacctggaaaggga	15	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:16677459C>G	ENST00000595753.1	-	4	657	c.640G>C	c.(640-642)Gat>Cat	p.D214H	SLC35E1_ENST00000431408.1_Missense_Mutation_p.D58H|CTD-3222D19.10_ENST00000597851.1_RNA|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.E407D	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	214					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ATCCGTGAATCTCGCAAGACC	0.537																																																	0													87	85	86					19																	16677459		2203	4300	6503	SO:0001583	missense	0			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.640G>C	19.37:g.16677459C>G	ENSP00000470652:p.Asp214His		Q8NBQ2|Q96JV7	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.E407D	ENST00000595753.1	37	c.1221	CCDS12346.2	19	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169706	0.57584	.	.	ENSG00000127526	ENST00000409648;ENST00000436553;ENST00000431408	T;T	0.63913	-0.05;-0.07	5.4	5.4	0.78164	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.80058	-0.1541	10	0.66056	D	0.02	-27.0985	18.1728	0.89752	0.0:1.0:0.0:0.0	.	214;70	Q96K37;Q9H7U6	S35E1_HUMAN;.	H	214;148;58	ENSP00000400435:D148H;ENSP00000397670:D58H	ENSP00000387152:D214H	D	-	1	0	SLC35E1	16538459	1.000000	0.71417	0.707000	0.30419	0.110000	0.19582	7.284000	0.78650	2.527000	0.85204	0.655000	0.94253	GAT	CTD-3222D19.2	-	NULL		0.537	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000141979	Clone_based_vega_gene	protein_coding	OTTHUMT00000326809.2	C	NM_024881		16677459	-1	no_errors	ENST00000409035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16677459	C	G	16677459	3	3	117	1	0	0	0	0	1	0	0	0	14614	913	32	1	604	1	SLC35E1	19	16677459	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1966516	16677459	42451524	1203	18671										
GLT25D1	79709	genome.wustl.edu	37	chr19	17678321	17678321	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggattcccgggctgcgtactCcaacttctggtgtggaatga	13	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:17678321C>G	ENST00000252599.4	+	4	716	c.596C>G	c.(595-597)tCc>tGc	p.S199C	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	199					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										GCTGCGTACTCCAACTTCTGG	0.597																																																	0													77	61	66					19																	17678321		2203	4300	6503	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.596C>G	19.37:g.17678321C>G	ENSP00000252599:p.Ser199Cys		Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.S199C	ENST00000252599.4	37	c.596	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461883	0.84425	.	.	ENSG00000130309	ENST00000252599	T	0.25749	1.78	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73183	-0.4063	10	0.87932	D	0	-11.5651	14.8241	0.70097	0.0:1.0:0.0:0.0	.	199	Q8NBJ5	GT251_HUMAN	C	199	ENSP00000252599:S199C	ENSP00000252599:S199C	S	+	2	0	GLT25D1	17539321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.477000	0.81069	2.106000	0.64143	0.491000	0.48974	TCC	GLT25D1	-	NULL		0.597	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17678321	1	no_errors	ENST00000252599	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17678321	C	G	17678321	3	3	117	1	0	0	0	0	1	0	0	0	6485	855	30	1	610	1	GLT25D1	19	17678321	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1000862	17678321	41450662	1204	18672										
MAST3	23031	genome.wustl.edu	37	chr19	18260492	18260492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cacagatcgccgtggagggcGaggaagccgtgccagtagct	16	11	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18260492G>A	ENST00000262811.6	+	27	3886	c.3886G>A	c.(3886-3888)Gag>Aag	p.E1296K	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1296							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTGGAGGGCGAGGAAGCCGT	0.607																																																	0													28	31	30					19																	18260492		2039	4174	6213	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3886G>A	19.37:g.18260492G>A	ENSP00000262811:p.Glu1296Lys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E1296K	ENST00000262811.6	37	c.3886	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154413	0.21371	.	.	ENSG00000099308	ENST00000262811	T	0.65732	-0.17	4.56	0.75	0.18387	.	1.008970	0.07971	N	0.984030	T	0.32224	0.0822	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.27157	-1.0082	10	0.05833	T	0.94	-4.2891	3.3688	0.07213	0.0984:0.1419:0.5292:0.2304	.	1296	O60307	MAST3_HUMAN	K	1296	ENSP00000262811:E1296K	ENSP00000262811:E1296K	E	+	1	0	MAST3	18121492	0.006000	0.16342	0.009000	0.14445	0.204000	0.24138	1.524000	0.35942	0.423000	0.26033	0.313000	0.20887	GAG	MAST3	-	NULL		0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	G	XM_038150		18260492	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.000	A	A	18260492	G	A	18260492	3	1	117	1	0	0	0	0	1	0	0	0	9349	1059	37	1	3992	1	MAST3	19	18260492	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	582171	18260492	40868491	1205	18673										
PIK3R2	5296	genome.wustl.edu	37	chr19	18271291	18271291	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccccaccaggcctcacactCcccgacttgcccgagcagtt	7	21	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18271291C>G	ENST00000593731.1	+	3	893	c.333C>G	c.(331-333)ctC>ctG	p.L111L	PIK3R2_ENST00000222254.8_Silent_p.L111L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	111	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GCCTCACACTCCCCGACTTGC	0.612																																																	0													107	91	97					19																	18271291		2203	4300	6503	SO:0001819	synonymous_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.333C>G	19.37:g.18271291C>G			Q5EAT5|Q9UPH9	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.L111	ENST00000593731.1	37	c.333	CCDS12371.1	19																																																																																			PIK3R2	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.612	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	C	NM_005027		18271291	1	no_errors	ENST00000222254	ensembl	human	known	70_37	silent	SNP	0.983	G	G	18271291	C	G	18271291	2	3	117	1	0	0	0	0	0	0	0	1	11943	842	30	1		1	PIK3R2	19	18271291	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	10799	18271291	40857692	1206	18674										
KIAA1683	80726	genome.wustl.edu	37	chr19	18376082	18376082	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcagcctggtgcgctgggatGaggcacgtggttatgtctgt	17	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18376082G>A	ENST00000600328.3	-	3	2461	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	KIAA1683_ENST00000600359.3_Silent_p.L710L|KIAA1683_ENST00000392413.4_Silent_p.L756L			Q9H0B3	K1683_HUMAN	KIAA1683	756						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGCTGGGATGAGGCACGTGG	0.637																																																	0													113	105	108					19																	18376082		2203	4300	6503	SO:0001819	synonymous_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2268C>T	19.37:g.18376082G>A			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L756	ENST00000600328.3	37	c.2268	CCDS32958.1	19																																																																																			KIAA1683	-	NULL		0.637	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	G			18376082	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	silent	SNP	0.002	A	A	18376082	G	A	18376082	2	1	117	1	0	0	0	0	0	0	0	1	8271	1277	45	1		1	KIAA1683	19	18376082	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	104791	18376082	40752901	1207	18675										
ISYNA1	51477	genome.wustl.edu	37	chr19	18547798	18547798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccaccatcgaacacgaggtCgttgggcgccaccatgggca	12	15	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18547798C>T	ENST00000338128.8	-	4	617	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000578963.1_Missense_Mutation_p.D6N|ISYNA1_ENST00000457269.4_Missense_Mutation_p.D80N	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	134					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						AACACGAGGTCGTTGGGCGCC	0.721																																																	0													18	20	19					19																	18547798		2198	4289	6487	SO:0001583	missense	51477				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.400G>A	19.37:g.18547798C>T	ENSP00000337746:p.Asp134Asn		B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase	p.D134N	ENST00000338128.8	37	c.400	CCDS12379.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046040	0.75846	.	.	ENSG00000105655	ENST00000338128;ENST00000457269	.	.	.	3.89	3.89	0.44902	NAD(P)-binding domain (1);	0.060505	0.64402	D	0.000008	T	0.56572	0.1994	M	0.74647	2.275	0.80722	D	1	P;P	0.43542	0.671;0.81	B;B	0.37692	0.18;0.256	T	0.65274	-0.6208	9	0.45353	T	0.12	-47.9926	14.9851	0.71342	0.0:1.0:0.0:0.0	.	80;134	G5E9U0;Q9NPH2	.;INO1_HUMAN	N	134;80	.	ENSP00000337746:D134N	D	-	1	0	ISYNA1	18408798	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.303000	0.51858	2.187000	0.69744	0.556000	0.70494	GAC	ISYNA1	-	pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase		0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ISYNA1	HGNC	protein_coding	OTTHUMT00000444469.2	C	NM_016368		18547798	-1	no_errors	ENST00000338128	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18547798	C	T	18547798	3	4	117	1	0	0	0	0	1	0	0	0	7887	884	31	1	1308	1	ISYNA1	19	18547798	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	171716	18547798	40581185	1208	18676										
NDUFA13	51079	genome.wustl.edu	37	chr19	19638571	19638571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcatcatgaaggacgtgcccGactggaaggtgggtcccggc	15	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:19638571G>A	ENST00000507754.4	+	4	791	c.307G>A	c.(307-309)Gac>Aac	p.D103N	YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000428459.2_Missense_Mutation_p.D103N|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.D186N|NDUFA13_ENST00000503283.1_Missense_Mutation_p.D103N|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.D103N|YJEFN3_ENST00000608404.1_Missense_Mutation_p.D103N|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.D103N			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	103	Important for inducing cell death.				apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GGACGTGCCCGACTGGAAGGT	0.647																																																	0													29	24	26					19																	19638571		2136	4154	6290	SO:0001583	missense	374887			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.307G>A	19.37:g.19638571G>A	ENSP00000423673:p.Asp103Asn		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.D103N	ENST00000507754.4	37	c.307	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052085	0.19827	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.75821	-0.97;-0.97;-0.97	4.99	-0.854	0.10705	.	0.328094	0.30742	N	0.008980	T	0.52370	0.1730	N	0.19112	0.55	0.09310	N	1	B;B;B	0.28208	0.007;0.203;0.011	B;B;B	0.23574	0.006;0.047;0.007	T	0.42498	-0.9448	10	0.46703	T	0.11	.	7.2503	0.26146	0.5173:0.0:0.4827:0.0	.	103;103;103	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	N	103;186;103;103	ENSP00000423673:D103N;ENSP00000252576:D186N;ENSP00000452549:D103N	ENSP00000252576:D186N	D	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19499571	0.578000	0.26717	0.009000	0.14445	0.067000	0.16453	1.839000	0.39220	-0.063000	0.13065	0.585000	0.79938	GAC	YJEFN3	-	pfam_GRIM-19,superfamily_YjeF_N_dom		0.647	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19638571	1	no_errors	ENST00000553705	ensembl	human	known	70_37	missense	SNP	0.001	A	A	19638571	G	A	19638571	3	1	117	1	0	0	0	0	1	0	0	0	10287	1058	37	1	321	1	NDUFA13	19	19638571	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1090773	19638571	39490412	1209	18677										
ZNF85	7639	genome.wustl.edu	37	chr19	21117813	21117813	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagcaagggaaagaggcctgGagtatgaagagacatgagat	16	4	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:21117813G>C	ENST00000328178.8	+	3	302	c.189G>C	c.(187-189)tgG>tgC	p.W63C	ZNF85_ENST00000345030.6_Intron|ZNF85_ENST00000601023.1_5'Flank|ZNF85_ENST00000597314.1_Missense_Mutation_p.E58Q|ZNF85_ENST00000596476.1_Missense_Mutation_p.W31C|ZNF85_ENST00000300540.3_Missense_Mutation_p.W63C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGAGGCCTGGAGTATGAAGA	0.403																																																	0													60	58	59					19																	21117813		2203	4300	6503	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.189G>C	19.37:g.21117813G>C	ENSP00000329793:p.Trp63Cys		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W63C	ENST00000328178.8	37	c.189	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	2.328	-0.354087	0.05173	.	.	ENSG00000105750	ENST00000328178;ENST00000300540	T;T	0.07444	3.19;5.31	1.05	1.05	0.20165	Krueppel-associated box (2);	.	.	.	.	T	0.15262	0.0368	M	0.71206	2.165	0.19575	N	0.999961	D	0.58970	0.984	P	0.52217	0.693	T	0.11084	-1.0602	9	0.54805	T	0.06	.	5.3055	0.15801	0.0:0.0:1.0:0.0	.	63	Q03923	ZNF85_HUMAN	C	63	ENSP00000329793:W63C;ENSP00000300540:W63C	ENSP00000300540:W63C	W	+	3	0	ZNF85	20909653	0.251000	0.23961	0.006000	0.13384	0.005000	0.04900	0.881000	0.28173	0.459000	0.27016	0.462000	0.41574	TGG	ZNF85	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.403	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	G	NM_003429		21117813	1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.013	C	C	21117813	G	C	21117813	3	2	117	1	0	0	0	0	1	0	0	0	18223	1183	41	1	199	1	ZNF85	19	21117813	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1479242	21117813	38011170	1210	18678										
NUDT19	390916	genome.wustl.edu	37	chr19	33202660	33202660	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gattttttcctttttcaggtGatgagctatatttagaagat	8	4	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:33202660G>A	ENST00000397061.3	+	3	925	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	309						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TTTTTCAGGTGATGAGCTATA	0.284																																																	0													34	31	32					19																	33202660		1793	4066	5859	SO:0001583	missense	390916				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.925G>A	19.37:g.33202660G>A	ENSP00000380251:p.Asp309Asn			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.D309N	ENST00000397061.3	37	c.925	CCDS42543.1	19	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603569	0.66445	.	.	ENSG00000213965	ENST00000397061	T	0.66995	-0.24	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	D	0.82531	0.5057	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84947	0.0869	10	0.72032	D	0.01	-25.3896	14.4901	0.67645	0.0:0.0:1.0:0.0	.	309	A8MXV4	NUD19_HUMAN	N	309	ENSP00000380251:D309N	ENSP00000380251:D309N	D	+	1	0	NUDT19	37894500	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.125000	0.64715	2.492000	0.84095	0.549000	0.68633	GAT	NUDT19	-	NULL		0.284	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUDT19	HGNC	protein_coding	OTTHUMT00000450338.3	G	XM_372723		33202660	1	no_errors	ENST00000397061	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	33202660	G	A	33202660	3	1	117	1	0	0	0	0	1	0	0	0	10760	1290	45	1	935	1	NUDT19	19	33202660	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	12084847	33202660	25926323	1211	18679										
DMKN	93099	genome.wustl.edu	37	chr19	35992775	35992775	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcccagcaggagcaggagcaGagcagaggcagtggccggct	18	11	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:35992775G>C	ENST00000339686.3	-	11	1416				DMKN_ENST00000402589.2_Intron|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000408915.2_Missense_Mutation_p.L11V|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000472252.2_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGCAGGAGCAGAGCAGAGGCA	0.657																																																	0													26	34	31					19																	35992775		2125	4251	6376	SO:0001627	intron_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1239+262C>G	19.37:g.35992775G>C			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.L11V	ENST00000339686.3	37	c.31	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559796	0.27827	.	.	ENSG00000161249	ENST00000408915	T	0.40225	1.04	4.51	2.34	0.29019	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56426	-0.7981	8	0.87932	D	0	.	6.1714	0.20418	0.1026:0.1886:0.7089:0.0	.	11	Q6E0U4-15	.	V	11	ENSP00000386225:L11V	ENSP00000386225:L11V	L	-	1	2	DMKN	40684615	0.988000	0.35896	0.802000	0.32245	0.602000	0.36980	0.468000	0.22051	0.528000	0.28580	0.491000	0.48974	CTG	DMKN	-	NULL		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35992775	-1	no_errors	ENST00000408915	ensembl	human	known	70_37	missense	SNP	0.958	C	C	35992775	G	C	35992775	1	2	117	0	1	0	0	0	0	0	0	0	4592	933	33	1		1	DMKN	19	35992775	Intron	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2790115	35992775	23136208	1212	18680										
MLL4	9757	genome.wustl.edu	37	chr19	36220184	36220184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtgcatgctgctgtggcccGagggaggcagatggtgaggg	20	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:36220184G>A	ENST00000222270.7	+	22	4904	c.4904G>A	c.(4903-4905)cGa>cAa	p.R1635Q	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R1635Q	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1635					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCTGTGGCCCGAGGGAGGCAG	0.617																																																	0													34	34	34					19																	36220184		2119	4237	6356	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4904G>A	19.37:g.36220184G>A	ENSP00000222270:p.Arg1635Gln		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R1635Q	ENST00000222270.7	37	c.4904	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278382	0.80692	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.71341	-0.56;-0.56	5.2	5.2	0.72013	.	0.000000	0.37483	N	0.002063	T	0.81592	0.4855	L	0.60012	1.86	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.82717	-0.0319	10	0.72032	D	0.01	.	15.7662	0.78128	0.0:0.0:1.0:0.0	.	1635	Q9UMN6	MLL4_HUMAN	Q	1635	ENSP00000222270:R1635Q;ENSP00000398837:R1635Q	ENSP00000222270:R1635Q	R	+	2	0	AD000671.1	40912024	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.550000	0.98110	2.711000	0.92665	0.655000	0.94253	CGA	WBP7	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36220184	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36220184	G	A	36220184	3	1	117	1	0	0	0	0	1	0	0	0	9646	1058	37	1	4990	1	MLL4	19	36220184	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	227409	36220184	22908799	1213	18681										
ZNF260	339324	genome.wustl.edu	37	chr19	37005303	37005303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cctgaagattgttccacattCattacatttgtagggtttct	7	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:37005303C>G	ENST00000523638.1	-	3	1959	c.838G>C	c.(838-840)Gaa>Caa	p.E280Q	ZNF260_ENST00000592282.1_Missense_Mutation_p.E280Q|ZNF260_ENST00000593142.1_Missense_Mutation_p.E280Q|ZNF260_ENST00000588993.1_Missense_Mutation_p.E280Q	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	280					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GTTCCACATTCATTACATTTG	0.373																																																	0													135	131	132					19																	37005303		2203	4300	6503	SO:0001583	missense	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.838G>C	19.37:g.37005303C>G	ENSP00000429803:p.Glu280Gln		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E280Q	ENST00000523638.1	37	c.838	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408999	0.42715	.	.	ENSG00000254004	ENST00000523638	T	0.07444	3.19	4.54	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.21282	0.65	0.29448	N	0.858672	B	0.30033	0.266	B	0.22601	0.04	T	0.19418	-1.0306	9	0.20519	T	0.43	.	13.8254	0.63348	0.0:0.8447:0.1553:0.0	.	280	Q3ZCT1	ZN260_HUMAN	Q	280	ENSP00000429803:E280Q	ENSP00000429803:E280Q	E	-	1	0	ZNF260	41697143	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.094000	0.11094	1.233000	0.43693	0.561000	0.74099	GAA	ZNF260	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	C	NM_001012756		37005303	-1	no_errors	ENST00000523638	ensembl	human	known	70_37	missense	SNP	0.996	G	G	37005303	C	G	37005303	3	3	117	1	0	0	0	0	1	0	0	0	17832	835	29	1	404	1	ZNF260	19	37005303	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	785119	37005303	22123680	1214	18682										
ZNF569	148266	genome.wustl.edu	37	chr19	37904285	37904285	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgaattttctggtgtgtaatGaagtttttcttgtggctgaa	11	3	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:37904285G>A	ENST00000316950.6	-	6	1832	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ZNF569_ENST00000392150.2_Silent_p.F266F|ZNF569_ENST00000392149.2_Silent_p.F425F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGTGTAATGAAGTTTTTCT	0.383																																																	0													112	104	107					19																	37904285		2203	4300	6503	SO:0001819	synonymous_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1275C>T	19.37:g.37904285G>A			A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F425	ENST00000316950.6	37	c.1275	CCDS12503.1	19																																																																																			ZNF569	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	G	NM_152484		37904285	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	silent	SNP	0.001	A	A	37904285	G	A	37904285	2	1	117	1	0	0	0	0	0	0	0	1	18030	1281	45	1		1	ZNF569	19	37904285	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	898982	37904285	21224698	1215	18683										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38579389	38579389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aattacttcggcgtggatgaGaagctggggccagtggctgt	16	7	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:38579389G>C	ENST00000222345.6	+	4	2072	c.1563G>C	c.(1561-1563)gaG>gaC	p.E521D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	521					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGTGGATGAGAAGCTGGGGC	0.587																																																	0													93	76	82					19																	38579389		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1563G>C	19.37:g.38579389G>C	ENSP00000222345:p.Glu521Asp		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E521D	ENST00000222345.6	37	c.1563	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506796	0.44558	.	.	ENSG00000105738	ENST00000222345	D	0.94092	-3.35	5.99	2.18	0.27775	.	0.175036	0.49916	N	0.000131	D	0.85957	0.5818	L	0.37850	1.14	0.40122	D	0.976617	B	0.06786	0.001	B	0.08055	0.003	T	0.75207	-0.3399	10	0.40728	T	0.16	-32.8477	2.3466	0.04273	0.1931:0.1397:0.5233:0.1439	.	521	O60292	SI1L3_HUMAN	D	521	ENSP00000222345:E521D	ENSP00000222345:E521D	E	+	3	2	SIPA1L3	43271229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.673000	0.37534	0.225000	0.20959	0.655000	0.94253	GAG	SIPA1L3	-	NULL		0.587	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38579389	1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38579389	G	C	38579389	3	2	117	1	0	0	0	0	1	0	0	0	14361	933	33	1	1569	1	SIPA1L3	19	38579389	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	675104	38579389	20549594	1216	18684										
SUPT5H	6829	genome.wustl.edu	37	chr19	39957123	39957123	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgctcgccctgctcaggtgGactacgtggagcccagccag	13	15	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:39957123G>C	ENST00000599117.1	+	13	1247	c.880G>C	c.(880-882)Gac>Cac	p.D294H	SUPT5H_ENST00000598725.1_Missense_Mutation_p.D294H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.D290H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.D294H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.D290H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	294	KOW 1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCTCAGGTGGACTACGTGGA	0.592																																																	0													122	83	96					19																	39957123		2203	4300	6503	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.880G>C	19.37:g.39957123G>C	ENSP00000470252:p.Asp294His		O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.D294H	ENST00000599117.1	37	c.880	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243573	0.79912	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.71	4.66	0.58398	KOW (1);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.971	T	0.77523	-0.2556	8	.	.	.	-25.8429	14.0896	0.64980	0.0755:0.0:0.9245:0.0	.	290;294	O00267-2;O00267	.;SPT5H_HUMAN	H	294;290;272;294	.	.	D	+	1	0	SUPT5H	44648963	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.811000	0.86092	2.699000	0.92147	0.655000	0.94253	GAC	SUPT5H	-	smart_KOW,pirsf_TF_Spt5		0.592	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	G	NM_003169		39957123	1	no_errors	ENST00000432763	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39957123	G	C	39957123	3	2	117	1	0	0	0	0	1	0	0	0	15429	1174	41	1	922	1	SUPT5H	19	39957123	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1377734	39957123	19171860	1217	18685										
MAP3K10	4294	genome.wustl.edu	37	chr19	40698214	40698214	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcctccagctgccccaggaGatccccttccacgagctgca	10	18	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:40698214G>A	ENST00000253055.3	+	1	564	c.276G>A	c.(274-276)gaG>gaA	p.E92E	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	92					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCCCCAGGAGATCCCCTTCC	0.711																																																	0													14	17	16					19																	40698214		2194	4297	6491	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.276G>A	19.37:g.40698214G>A			Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E92	ENST00000253055.3	37	c.276	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom		0.711	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	G	NM_002446		40698214	1	no_errors	ENST00000253055	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40698214	G	A	40698214	2	1	117	1	0	0	0	0	0	0	0	1	9267	933	33	1		1	MAP3K10	19	40698214	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	741091	40698214	18430769	1218	18686										
PRX	57716	genome.wustl.edu	37	chr19	40901211	40901211	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agagcaaacctgggccccttGaacttgaggtcggcccctgc	12	14	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:40901211G>A	ENST00000324001.7	-	7	3318	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1016					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCCCCTTGAACTTGAGGT	0.642																																																	0													40	44	43					19																	40901211		2203	4300	6503	SO:0001819	synonymous_variant	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3048C>T	19.37:g.40901211G>A			Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F1016	ENST00000324001.7	37	c.3048	CCDS33028.1	19																																																																																			PRX	-	NULL		0.642	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	G	NM_020956		40901211	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	silent	SNP	0.985	A	A	40901211	G	A	40901211	2	1	117	1	0	0	0	0	0	0	0	1	12669	1281	45	1		1	PRX	19	40901211	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	202997	40901211	18227772	1219	18687										
ATP1A3	478	genome.wustl.edu	37	chr19	42489498	42489498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagaaggtgatgttccgagtCtccaaggggttgtcgtgagt	15	6	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:42489498C>T	ENST00000302102.5	-	7	834	c.684G>A	c.(682-684)gaG>gaA	p.E228E	ATP1A3_ENST00000545399.1_Silent_p.E241E|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Silent_p.E198E|ATP1A3_ENST00000543770.1_Silent_p.E239E	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	228					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTTCCGAGTCTCCAAGGGGT	0.607																																																	0													95	83	87					19																	42489498		2203	4300	6503	SO:0001819	synonymous_variant	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.684G>A	19.37:g.42489498C>T			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E228	ENST00000302102.5	37	c.684	CCDS12594.1	19																																																																																			ATP1A3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	C	NM_152296		42489498	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42489498	C	T	42489498	2	4	117	1	0	0	0	0	0	0	0	1	1131	912	32	1		1	ATP1A3	19	42489498	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1588287	42489498	16639485	1220	18688										
CIC	23152	genome.wustl.edu	37	chr19	42794092	42794092	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acagctctggggaggacccaGagggcaacaaggtgagggct	17	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:42794092G>C	ENST00000575354.2	+	9	1493	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	CIC_ENST00000160740.3_Missense_Mutation_p.E485Q|CIC_ENST00000572681.2_Missense_Mutation_p.E1394Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGAGGACCCAGAGGGCAACAA	0.602			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													53	33	40					19																	42794092		2202	4298	6500	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1453G>C	19.37:g.42794092G>C	ENSP00000458663:p.Glu485Gln		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E485Q	ENST00000575354.2	37	c.1453	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248594	0.39797	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.38983	0.1061	N	0.24115	0.695	0.34515	D	0.707501	P	0.37466	0.596	B	0.32289	0.143	T	0.58973	-0.7541	8	0.87932	D	0	-4.4677	15.4304	0.75092	0.0:0.0:1.0:0.0	.	485	Q96RK0	CIC_HUMAN	Q	485	.	ENSP00000160740:E485Q	E	+	1	0	CIC	47485932	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.880000	0.69698	2.586000	0.87340	0.561000	0.74099	GAG	CIC	-	NULL		0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42794092	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	0.995	C	C	42794092	G	C	42794092	3	2	117	1	0	0	0	0	1	0	0	0	3429	943	33	1	1487	1	CIC	19	42794092	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	304594	42794092	16334891	1221	18689										
PSG8	440533	genome.wustl.edu	37	chr19	43259329	43259329	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaaatgtaggtgtagttctCactcttaggttcacaggtga	10	8	3	1	rs140231543		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:43259329C>T	ENST00000306511.4	-	4	896	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PSG8_ENST00000404209.4_Missense_Mutation_p.E267K|PSG8_ENST00000401467.2_Missense_Mutation_p.E174K|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.E145K	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	267	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGTAGTTCTCACTCTTAGGT	0.478																																																	0								C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	121	123	122		799,433,799	-2.5	0	19	dbSNP_134	122	2,8590		0,2,4294	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	56,56,56	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	267/420,145/298,267/427	43259329	2,12996	2203	4296	6499	SO:0001583	missense	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.799G>A	19.37:g.43259329C>T	ENSP00000305005:p.Glu267Lys		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E267K	ENST00000306511.4	37	c.799	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	N	5.624	0.299792	0.10622	0.0	2.33E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	1.26	-2.52	0.06346	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05364	0.0142	N	0.10945	0.07	0.09310	N	1	B;B;B;B;B;B	0.10296	0.0;0.003;0.003;0.0;0.0;0.0	B;B;B;B;B;B	0.15052	0.003;0.008;0.012;0.008;0.007;0.012	T	0.35822	-0.9773	9	0.54805	T	0.06	.	6.84	0.23957	0.0:0.4908:0.5092:0.0	.	145;174;267;174;267;267	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	K	267;145;174;79;174;267	ENSP00000385869:E267K;ENSP00000385081:E145K;ENSP00000386090:E174K;ENSP00000305005:E267K	ENSP00000305005:E267K	E	-	1	0	PSG8	47951169	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.092000	0.11129	-1.343000	0.02219	-1.318000	0.01297	GAG	PSG8	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	C			43259329	-1	no_errors	ENST00000306511	ensembl	human	known	70_37	missense	SNP	0.000	T	T	43259329	C	T	43259329	3	4	117	1	0	0	0	0	1	0	0	0	12688	835	29	1	510	1	PSG8	19	43259329	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	465237	43259329	15869654	1222	18690										
ZNF226	7769	genome.wustl.edu	37	chr19	44680547	44680547	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttcagtcaggcctctcatCttcaggaccatcagagactc	7	15	6	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:44680547C>T	ENST00000590089.1	+	7	1499	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	ZNF226_ENST00000337433.5_Missense_Mutation_p.L378F|ZNF226_ENST00000454662.2_Missense_Mutation_p.L378F|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				GGCCTCTCATCTTCAGGACCA	0.478																																					Pancreas(115;581 1665 13228 19278 50070)												0													70	76	74					19																	44680547		2181	4294	6475	SO:0001583	missense	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1132C>T	19.37:g.44680547C>T	ENSP00000465121:p.Leu378Phe		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L378F	ENST00000590089.1	37	c.1132	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009620	0.54361	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.52057	0.68;0.68	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29486	N	0.012001	T	0.66819	0.2828	M	0.70275	2.135	0.32950	D	0.519609	D	0.89917	1.0	D	0.97110	1.0	T	0.73688	-0.3904	10	0.39692	T	0.17	.	15.9882	0.80176	0.0:1.0:0.0:0.0	.	378	Q9NYT6	ZN226_HUMAN	F	378	ENSP00000336719:L378F;ENSP00000393265:L378F	ENSP00000336719:L378F	L	+	1	0	ZNF226	49372387	0.024000	0.19004	1.000000	0.80357	0.996000	0.88848	0.371000	0.20450	2.388000	0.81334	0.655000	0.94253	CTT	ZNF226	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	C			44680547	1	no_errors	ENST00000337433	ensembl	human	known	70_37	missense	SNP	0.937	T	T	44680547	C	T	44680547	3	4	117	1	0	0	0	0	1	0	0	0	17810	913	32	1	1200	1	ZNF226	19	44680547	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1421218	44680547	14448436	1223	18691										
ZNF233	353355	genome.wustl.edu	37	chr19	44777594	44777594	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aatcaggagagcaaacctctGatgaaaatggaaaaggctta	10	6	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:44777594G>C	ENST00000391958.2	+	5	908	c.781G>C	c.(781-783)Gat>Cat	p.D261H	ZNF233_ENST00000334152.1_Missense_Mutation_p.D243H|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCAAACCTCTGATGAAAATGG	0.408																																																	0													78	74	75					19																	44777594		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.781G>C	19.37:g.44777594G>C	ENSP00000375820:p.Asp261His		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D261H	ENST00000391958.2	37	c.781	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	8.447	0.852095	0.17034	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.05786	3.39;3.57	3.39	-0.0877	0.13676	.	.	.	.	.	T	0.04407	0.0121	L	0.31157	0.91	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.41124	-0.9526	9	0.42905	T	0.14	-0.3493	3.4792	0.07595	0.185:0.1349:0.5429:0.1371	.	261	A6NK53	ZN233_HUMAN	H	243;261;182	ENSP00000334957:D243H;ENSP00000375820:D261H	ENSP00000280305:D182H	D	+	1	0	ZNF233	49469434	0.007000	0.16637	0.264000	0.24511	0.051000	0.14879	0.082000	0.14847	-0.032000	0.13758	-0.921000	0.02739	GAT	ZNF233	-	NULL		0.408	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	G	NM_181756		44777594	1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	0.471	C	C	44777594	G	C	44777594	3	2	117	1	0	0	0	0	1	0	0	0	17816	1290	45	1	795	1	ZNF233	19	44777594	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	97047	44777594	14351389	1224	18692										
RTN2	6253	genome.wustl.edu	37	chr19	45998373	45998373	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttctgtggaatcaggagttGaggaggctgtagacggagct	16	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:45998373G>C	ENST00000245923.4	-	2	294	c.59C>G	c.(58-60)tCa>tGa	p.S20*	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Nonsense_Mutation_p.S20*|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	20					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ATCAGGAGTTGAGGAGGCTGT	0.542																																																	0													85	84	84					19																	45998373		2203	4300	6503	SO:0001587	stop_gained	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.59C>G	19.37:g.45998373G>C	ENSP00000245923:p.Ser20*		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Nonsense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S20*	ENST00000245923.4	37	c.59	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.524230	0.96431	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	.	.	.	5.18	5.18	0.71444	.	0.000000	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3784	14.0568	0.64774	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000245923:S20X	S	-	2	0	RTN2	50690213	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.801000	0.62532	2.700000	0.92200	0.462000	0.41574	TCA	RTN2	-	NULL		0.542	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	G	NM_005619		45998373	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	45998373	G	C	45998373	4	2	117	1	0	0	0	0	0	1	0	0	13756	1294	45	1	1618	1	RTN2	19	45998373	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1220779	45998373	13130610	1225	18693										
GIPR	2696	genome.wustl.edu	37	chr19	46177987	46177987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccacatcaacctgttcacgtCtttcatgctgcgagctgcgg	9	14	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:46177987C>G	ENST00000590918.1	+	7	635	c.536C>G	c.(535-537)tCt>tGt	p.S179C	GIPR_ENST00000304207.8_Missense_Mutation_p.S143C|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.S179C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	179					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTGTTCACGTCTTTCATGCTG	0.592																																																	0													80	71	74					19																	46177987		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.536C>G	19.37:g.46177987C>G	ENSP00000467494:p.Ser179Cys		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.S179C	ENST00000590918.1	37	c.536	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199507	0.58126	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.54279	0.58;0.58	4.87	4.87	0.63330	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000103	T	0.80003	0.4544	H	0.94808	3.585	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85497	0.1189	10	0.87932	D	0	.	15.897	0.79341	0.0:1.0:0.0:0.0	.	143;179;179	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	C	179;143	ENSP00000263281:S179C;ENSP00000305321:S143C	ENSP00000263281:S179C	S	+	2	0	GIPR	50869827	1.000000	0.71417	0.319000	0.25293	0.109000	0.19521	6.854000	0.75440	2.687000	0.91594	0.655000	0.94253	TCT	GIPR	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.592	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	C			46177987	1	no_errors	ENST00000590918	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46177987	C	G	46177987	3	3	117	1	0	0	0	0	1	0	0	0	6414	913	32	1	558	1	GIPR	19	46177987	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	179614	46177987	12950996	1226	18694										
PGLYRP1	8993	genome.wustl.edu	37	chr19	46522675	46522675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcctggggtgtgggcacccGatctggaggaggcagaggta	20	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:46522675G>A	ENST00000008938.4	-	3	455	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	138					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GTGGGCACCCGATCTGGAGGA	0.657																																																	0													47	51	50					19																	46522675		2203	4300	6503	SO:0001583	missense	8993			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"peptidoglycan recognition protein"	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.412C>T	19.37:g.46522675G>A	ENSP00000008938:p.Arg138Trp		Q4VB36	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition	p.R138W	ENST00000008938.4	37	c.412	CCDS12680.1	19	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117035	0.56505	.	.	ENSG00000008438	ENST00000008938	T	0.14144	2.53	4.93	3.86	0.44501	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.52532	D	0.000064	T	0.40619	0.1124	M	0.89414	3.03	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.32402	-0.9908	10	0.72032	D	0.01	-41.9195	10.4912	0.44752	0.0:0.0:0.8057:0.1943	.	138	O75594	PGRP1_HUMAN	W	138	ENSP00000008938:R138W	ENSP00000008938:R138W	R	-	1	2	PGLYRP1	51214515	0.005000	0.15991	0.066000	0.19879	0.036000	0.12997	0.876000	0.28092	1.016000	0.39470	0.558000	0.71614	CGG	PGLYRP1	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition		0.657	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP1	HGNC	protein_coding	OTTHUMT00000461695.1	G	NM_005091		46522675	-1	no_errors	ENST00000008938	ensembl	human	known	70_37	missense	SNP	0.078	A	A	46522675	G	A	46522675	3	1	117	1	0	0	0	0	1	0	0	0	11817	1057	37	1	182	1	PGLYRP1	19	46522675	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	344688	46522675	12606308	1227	18695										
IGFL1	374918	genome.wustl.edu	37	chr19	46733399	46733399	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttctgcatctccaggctcctCtgctcacacggagccccagg	9	17	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:46733399C>T	ENST00000437936.1	+	2	83	c.60C>T	c.(58-60)ctC>ctT	p.L20L	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	20						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CCAGGCTCCTCTGCTCACACG	0.587																																																	0													93	92	92					19																	46733399		1927	4133	6060	SO:0001819	synonymous_variant	374918			AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.60C>T	19.37:g.46733399C>T				Silent	SNP	NULL	p.L20	ENST00000437936.1	37	c.60	CCDS46123.1	19																																																																																			IGFL1	-	NULL		0.587	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL1	HGNC	protein_coding	OTTHUMT00000461724.1	C	NM_198541		46733399	1	no_errors	ENST00000437936	ensembl	human	known	70_37	silent	SNP	0.005	T	T	46733399	C	T	46733399	2	4	117	1	0	0	0	0	0	0	0	1	7606	900	32	1		1	IGFL1	19	46733399	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	210724	46733399	12395584	1228	18696										
SLC1A5	6510	genome.wustl.edu	37	chr19	47278773	47278773	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtccctcccggggtttacatGactgattccttctcagaggc	10	13	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:47278773G>C	ENST00000542575.2	-	8	2248	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	SLC1A5_ENST00000594991.1_Silent_p.V364V|SLC1A5_ENST00000434726.2_Silent_p.V338V|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Silent_p.V312V	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	540					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GGGTTTACATGACTGATTCCT	0.592																																																	0													76	88	84					19																	47278773		2203	4299	6502	SO:0001819	synonymous_variant	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1620C>G	19.37:g.47278773G>C			A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V540	ENST00000542575.2	37	c.1620	CCDS12692.1	19																																																																																			SLC1A5	-	NULL		0.592	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	G			47278773	-1	no_errors	ENST00000542575	ensembl	human	known	70_37	silent	SNP	1.000	C	C	47278773	G	C	47278773	2	2	117	1	0	0	0	0	0	0	0	1	14465	1277	45	1		1	SLC1A5	19	47278773	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	545374	47278773	11850210	1229	18697										
MEIS3	56917	genome.wustl.edu	37	chr19	47910191	47910191	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcgtctcggtatagcccccGatgggctggccctctgggct	14	14	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:47910191G>T	ENST00000558555.1	-	11	1219	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	MEIS3_ENST00000441740.2_Silent_p.I327I|MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000561096.1_Silent_p.I432I|MEIS3_ENST00000331559.5_Silent_p.I373I|MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000560253.1_5'UTR			Q99687	MEIS3_HUMAN	Meis homeobox 3	344					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.I390I(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TATAGCCCCCGATGGGCTGGC	0.706																																																	1	Substitution - coding silent(1)	large_intestine(1)											39	21	27					19																	47910191		2192	4289	6481	SO:0001819	synonymous_variant	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.1032C>A	19.37:g.47910191G>T			A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I390	ENST00000558555.1	37	c.1170		19																																																																																			MEIS3	-	NULL		0.706	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	G	XM_085929		47910191	-1	no_errors	ENST00000559524	ensembl	human	known	70_37	silent	SNP	0.976	T	T	47910191	G	T	47910191	2	4	117	1	0	0	0	0	0	0	0	1	9492	1048	37	3		3	MEIS3	19	47910191	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	631418	47910191	11218792	1230	18698										
SLC8A2	6543	genome.wustl.edu	37	chr19	47960516	47960516	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcagcgcgtagtagttggcGatgcccaccagctgctccag	13	13	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:47960516G>A	ENST00000236877.6	-	3	1406	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Silent_p.I93I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	337					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGTAGTTGGCGATGCCCACCA	0.667																																																	0													9	7	8					19																	47960516		2031	3971	6002	SO:0001819	synonymous_variant	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1011C>T	19.37:g.47960516G>A			B4DYQ9	Silent	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.I337	ENST00000236877.6	37	c.1011	CCDS33065.1	19																																																																																			SLC8A2	-	tigrfam_Na_Ca_Ex		0.667	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	G			47960516	-1	no_errors	ENST00000236877	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47960516	G	A	47960516	2	1	117	1	0	0	0	0	0	0	0	1	14737	1048	37	1		1	SLC8A2	19	47960516	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	50325	47960516	11168467	1231	18699										
HSD17B14	51171	genome.wustl.edu	37	chr19	49316448	49316448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaaatcaggaagggatatcgGgggcgtccacgggggtgctc	18	8	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49316448G>C	ENST00000263278.4	-	9	1063	c.797C>G	c.(796-798)cCc>cGc	p.P266R	HSD17B14_ENST00000599157.1_Missense_Mutation_p.P242R|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000598162.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	266					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGGGATATCGGGGGCGTCCAC	0.612																																																	0													16	18	17					19																	49316448		2199	4296	6495	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.797C>G	19.37:g.49316448G>C	ENSP00000263278:p.Pro266Arg		Q9UKU3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P266R	ENST00000263278.4	37	c.797	CCDS12736.1	19	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370355	0.42003	.	.	ENSG00000087076	ENST00000263278	D	0.84589	-1.87	3.88	3.88	0.44766	.	0.181701	0.31797	N	0.007043	T	0.68495	0.3007	N	0.08118	0	0.33580	D	0.599793	P	0.38195	0.622	B	0.32624	0.149	T	0.78912	-0.2017	10	0.51188	T	0.08	.	12.0356	0.53423	0.0:0.0:1.0:0.0	.	266	Q9BPX1	DHB14_HUMAN	R	266	ENSP00000263278:P266R	ENSP00000263278:P266R	P	-	2	0	HSD17B14	54008260	0.748000	0.28294	0.116000	0.21606	0.022000	0.10575	5.000000	0.63940	2.121000	0.65114	0.561000	0.74099	CCC	HSD17B14	-	NULL		0.612	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1	G	NM_016246		49316448	-1	no_errors	ENST00000263278	ensembl	human	known	70_37	missense	SNP	0.777	C	C	49316448	G	C	49316448	3	2	117	1	0	0	0	0	1	0	0	0	7403	1232	43	4	19	4	HSD17B14	19	49316448	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1355932	49316448	9812535	1232	18700										
GYS1	2997	genome.wustl.edu	37	chr19	49481228	49481228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catagtgaagtcttccttatCcagcatcttgttcatgtcgg	8	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49481228C>G	ENST00000323798.3	-	10	1457	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.D357H|GYS1_ENST00000541188.1_Missense_Mutation_p.D341H|GYS1_ENST00000544287.1_Missense_Mutation_p.D54H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	421					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTTCCTTATCCAGCATCTTG	0.537																																																	0													161	123	136					19																	49481228		2203	4300	6503	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1261G>C	19.37:g.49481228C>G	ENSP00000317904:p.Asp421His		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.D421H	ENST00000323798.3	37	c.1261	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491729	0.84962	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.22	5.22	0.72569	.	0.044796	0.85682	D	0.000000	T	0.69984	0.3172	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.939;0.995	T	0.69335	-0.5172	10	0.45353	T	0.12	-35.2094	17.0837	0.86605	0.0:1.0:0.0:0.0	.	341;357;421	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	H	421;357;341;54	ENSP00000317904:D421H;ENSP00000263276:D357H;ENSP00000437922:D341H;ENSP00000444004:D54H	ENSP00000263276:D357H	D	-	1	0	GYS1	54173040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.556000	0.82233	2.826000	0.97356	0.491000	0.48974	GAT	GYS1	-	pfam_Glycogen_synth		0.537	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	C	NM_002103		49481228	-1	no_errors	ENST00000323798	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49481228	C	G	49481228	3	3	117	1	0	0	0	0	1	0	0	0	6932	855	30	1	980	1	GYS1	19	49481228	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	164780	49481228	9647755	1233	18701										
TRPM4	54795	genome.wustl.edu	37	chr19	49713601	49713601	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcccacttgcgcctcctgctCaggcaattgtgcaggcgacc	10	16	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49713601C>G	ENST00000252826.5	+	21	3393	c.3267C>G	c.(3265-3267)ctC>ctG	p.L1089L	TRPM4_ENST00000355712.5_Silent_p.L735L|TRPM4_ENST00000427978.2_Silent_p.L944L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1089	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCTCCTGCTCAGGCAATTGT	0.612																																																	0													46	47	47					19																	49713601		2203	4300	6503	SO:0001819	synonymous_variant	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3267C>G	19.37:g.49713601C>G			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.L1089	ENST00000252826.5	37	c.3267	CCDS33073.1	19																																																																																			TRPM4	-	NULL		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49713601	1	no_errors	ENST00000252826	ensembl	human	known	70_37	silent	SNP	0.967	G	G	49713601	C	G	49713601	2	3	117	1	0	0	0	0	0	0	0	1	16619	813	29	1		1	TRPM4	19	49713601	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	232373	49713601	9415382	1234	18702										
TSKS	60385	genome.wustl.edu	37	chr19	50265447	50265447	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgaggaccgtttgaggttCaggcaccagtgcatgggctg	16	10	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:50265447C>G	ENST00000246801.3	-	2	295	c.213G>C	c.(211-213)ctG>ctC	p.L71L	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	71					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTTTGAGGTTCAGGCACCAGT	0.617																																																	0													80	58	66					19																	50265447		2203	4300	6503	SO:0001819	synonymous_variant	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.213G>C	19.37:g.50265447C>G			Q8WXJ0	Silent	SNP	NULL	p.L71	ENST00000246801.3	37	c.213	CCDS12780.1	19																																																																																			TSKS	-	NULL		0.617	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50265447	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	silent	SNP	1.000	G	G	50265447	C	G	50265447	2	3	117	1	0	0	0	0	0	0	0	1	16657	813	29	1		1	TSKS	19	50265447	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	551846	50265447	8863536	1235	18703										
IL4I1	259307	genome.wustl.edu	37	chr19	50394272	50394272	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggcccggagggcctcggcGaagctgagatagaagaagcc	17	10	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:50394272G>A	ENST00000391826.2	-	7	871	c.729C>T	c.(727-729)ttC>ttT	p.F243F	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.F265F|IL4I1_ENST00000595948.1_Silent_p.F265F	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	243						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GGGCCTCGGCGAAGCTGAGAT	0.667																																																	0													27	31	30					19																	50394272		2203	4300	6503	SO:0001819	synonymous_variant	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.729C>T	19.37:g.50394272G>A			Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.F265	ENST00000391826.2	37	c.795	CCDS12787.1	19																																																																																			IL4I1	-	pfam_Amino_oxidase		0.667	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1	G			50394272	-1	no_errors	ENST00000341114	ensembl	human	known	70_37	silent	SNP	0.218	A	A	50394272	G	A	50394272	2	1	117	1	0	0	0	0	0	0	0	1	7717	1049	37	1		1	IL4I1	19	50394272	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	128825	50394272	8734711	1236	18704										
SHANK1	50944	genome.wustl.edu	37	chr19	51165386	51165386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctccgccaaacccagccactCcagccaatcagccacgtcga	6	20	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51165386C>G	ENST00000293441.1	-	23	6340	c.6322G>C	c.(6322-6324)Gag>Cag	p.E2108Q	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.E1495Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.E2099Q|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391814.1_Missense_Mutation_p.E2116Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2108	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCAGCCACTCCAGCCAATCA	0.637																																																	0													67	62	64					19																	51165386		2203	4300	6503	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6322G>C	19.37:g.51165386C>G	ENSP00000293441:p.Glu2108Gln		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E2116Q	ENST00000293441.1	37	c.6346	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819316	0.32145	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.56	3.56	0.40772	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.253497	0.30732	U	0.008987	T	0.48642	0.1511	L	0.49640	1.575	0.38086	D	0.936816	P;D	0.56968	0.901;0.978	P;P	0.47645	0.534;0.553	T	0.61633	-0.7023	10	0.72032	D	0.01	.	14.4649	0.67477	0.0:1.0:0.0:0.0	.	2108;1495	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	2108;1495;2099;2116	ENSP00000293441:E2108Q;ENSP00000375689:E1495Q;ENSP00000351984:E2099Q;ENSP00000375690:E2116Q	ENSP00000293441:E2108Q	E	-	1	0	SHANK1	55857198	0.998000	0.40836	0.890000	0.34922	0.890000	0.51754	5.686000	0.68211	2.011000	0.59026	0.450000	0.29827	GAG	SHANK1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	C	NM_016148		51165386	-1	no_errors	ENST00000391814	ensembl	human	known	70_37	missense	SNP	0.998	G	G	51165386	C	G	51165386	3	3	117	1	0	0	0	0	1	0	0	0	14294	864	30	1	167	1	SHANK1	19	51165386	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	771114	51165386	7963597	1237	18705										
C19orf75	284369	genome.wustl.edu	37	chr19	51769113	51769113	+	Silent	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaattgtaattgcgctgctCttcctctgcctcctccctct					rs149317024		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51769113C>T	ENST00000316401.7	+	4	768	c.387C>T	c.(385-387)ctC>ctT	p.L129L	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.L35L	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	491	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTGCGCTGCTCTTCCTCTGCC	0.562																																																	0													225	207	213					19																	51769113		2203	4300	6503	SO:0001819	synonymous_variant	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.387C>T	19.37:g.51769113C>T			Q8IYH7	Silent	SNP	NULL	p.L129	ENST00000316401.7	37	c.387	CCDS12827.1	19																																																																																			SIGLECL1	-	NULL		0.562	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLECL1	HGNC	protein_coding	OTTHUMT00000464161.2	C	NM_173635		51769113	1	no_errors	ENST00000316401	ensembl	human	known	70_37	silent	SNP	0.498	T	T	51769113	C	T	51769113	2	4	117	1	0	0	0	0	0	0	0	1	1954	900	32	1		1	C19orf75	19	51769113	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	603727	51769113	7359870	1238	18706	108	2								
C19orf75	284369	genome.wustl.edu	37	chr19	51769119	51769119	+	Silent	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtaattgcgctgctcttcctCtgcctcctccctctcatgtg					rs551628391		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51769119C>T	ENST00000316401.7	+	4	774	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.L37L	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	493	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TGCTCTTCCTCTGCCTCCTCC	0.557																																																	0													204	189	194					19																	51769119		2203	4300	6503	SO:0001819	synonymous_variant	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.393C>T	19.37:g.51769119C>T			Q8IYH7	Silent	SNP	NULL	p.L131	ENST00000316401.7	37	c.393	CCDS12827.1	19																																																																																			SIGLECL1	-	NULL		0.557	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLECL1	HGNC	protein_coding	OTTHUMT00000464161.2	C	NM_173635		51769119	1	no_errors	ENST00000316401	ensembl	human	known	70_37	silent	SNP	0.990	T	T	51769119	C	T	51769119	2	4	117	1	0	0	0	0	0	0	0	1	1954	900	32	1		1	C19orf75	19	51769119	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6	51769119	7359864	1239	18707	108	2								
ZNF615	284370	genome.wustl.edu	37	chr19	52496531	52496531	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtgaagccctttccacattCattgcatatataaggtttct	7	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:52496531C>G	ENST00000602063.1	-	6	2147	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	ZNF615_ENST00000391795.3_Missense_Mutation_p.E605Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.E611Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.E600Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.E611Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTCCACATTCATTGCATATA	0.413																																																	0													117	109	112					19																	52496531		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1798G>C	19.37:g.52496531C>G	ENSP00000473089:p.Glu600Gln		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E611Q	ENST00000602063.1	37	c.1831	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487804	0.26686	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.35789	1.29;1.29	3.23	0.82	0.18793	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20820	0.0501	N	0.12920	0.275	0.09310	N	1	P;P;P;P	0.49090	0.919;0.9;0.9;0.919	B;B;B;B	0.42995	0.404;0.282;0.282;0.404	T	0.10590	-1.0623	9	0.34782	T	0.22	.	7.7386	0.28829	0.0:0.7302:0.165:0.1048	.	605;607;611;600	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Q	600;610;605;554	ENSP00000365906:E600Q;ENSP00000375672:E605Q	ENSP00000347019:E610Q	E	-	1	0	ZNF615	57188343	0.000000	0.05858	0.359000	0.25824	0.987000	0.75469	-0.018000	0.12568	0.698000	0.31739	-0.123000	0.14984	GAA	ZNF615	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	C	NM_198480		52496531	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.001	G	G	52496531	C	G	52496531	3	3	117	1	0	0	0	0	1	0	0	0	18070	835	29	1	401	1	ZNF615	19	52496531	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	727412	52496531	6632452	1240	18708										
ZNF432	9668	genome.wustl.edu	37	chr19	52537254	52537254	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcttctgtatgaatttgctGatgtacaatgagatagcgtt	9	6	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:52537254G>A	ENST00000594154.1	-	5	1890	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*	ZNF432_ENST00000221315.5_Nonsense_Mutation_p.Q560*			O94892	ZN432_HUMAN	zinc finger protein 432	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGAATTTGCTGATGTACAATG	0.403																																																	0													106	100	102					19																	52537254		2203	4300	6503	SO:0001587	stop_gained	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1678C>T	19.37:g.52537254G>A	ENSP00000470488:p.Gln560*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q560*	ENST00000594154.1	37	c.1678	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.968188	0.97971	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.96	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.837	0.35117	0.0:0.0:0.7754:0.2246	.	.	.	.	X	560	.	ENSP00000221315:Q560X	Q	-	1	0	ZNF432	57229066	0.191000	0.23288	0.971000	0.41717	0.886000	0.51366	0.391000	0.20784	1.664000	0.50801	0.655000	0.94253	CAG	ZNF432	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	G	NM_014650		52537254	-1	no_errors	ENST00000221315	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52537254	G	A	52537254	4	1	117	1	0	0	0	0	0	1	0	0	17936	1299	45	1	284	1	ZNF432	19	52537254	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	40723	52537254	6591729	1241	18709										
ZNF578	147660	genome.wustl.edu	37	chr19	53014312	53014312	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caaaaacaggaagtacacatGagagaaaaatctttccaatg	7	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53014312G>A	ENST00000421239.2	+	6	922	c.678G>A	c.(676-678)atG>atA	p.M226I	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGTACACATGAGAGAAAAAT	0.333																																																	0													67	69	68					19																	53014312		2201	4300	6501	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.678G>A	19.37:g.53014312G>A	ENSP00000459216:p.Met226Ile		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M226I	ENST00000421239.2	37	c.678	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	0.295	-0.977588	0.02197	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.3	0.0277	0.14156	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.22591	-1.0212	6	.	.	.	.	2.3584	0.04301	0.4181:0.0:0.2454:0.3365	.	226	G3V4F6	.	I	226	.	.	M	+	3	0	ZNF578	57706124	0.000000	0.05858	0.007000	0.13788	0.571000	0.35966	-0.913000	0.04042	-0.208000	0.10171	0.297000	0.19635	ATG	ZNF578	-	NULL		0.333	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	G	NM_152472		53014312	1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.145	A	A	53014312	G	A	53014312	3	1	117	1	0	0	0	0	1	0	0	0	18040	1290	45	1	688	1	ZNF578	19	53014312	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	477058	53014312	6114671	1242	18710										
ZNF677	342926	genome.wustl.edu	37	chr19	53754791	53754791	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caagaatataacttttacctGagaaagagccattccctcct	5	11	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53754791G>C	ENST00000598513.1	-	3	163	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	ZNF677_ENST00000333952.4_Missense_Mutation_p.Q5E|ZNF677_ENST00000595293.1_5'UTR|ZNF677_ENST00000598806.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000599012.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000601828.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000594681.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000601413.1_Missense_Mutation_p.Q5E	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACTTTTACCTGAGAAAGAGCC	0.373																																																	0													147	122	130					19																	53754791		2203	4300	6503	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.13C>G	19.37:g.53754791G>C	ENSP00000469391:p.Gln5Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q5E	ENST00000598513.1	37	c.13	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	4.076	0.012010	0.07912	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.00940	5.52	2.87	-0.797	0.10909	Krueppel-associated box (1);	.	.	.	.	T	0.01254	0.0041	M	0.73319	2.225	0.09310	N	1	B	0.20887	0.049	B	0.10450	0.005	T	0.47407	-0.9120	9	0.72032	D	0.01	.	1.0638	0.01606	0.1454:0.2333:0.383:0.2382	.	5	Q86XU0	ZN677_HUMAN	E	5	ENSP00000334394:Q5E	ENSP00000334394:Q5E	Q	-	1	0	ZNF677	58446603	0.026000	0.19158	0.190000	0.23270	0.113000	0.19764	-0.162000	0.10012	0.045000	0.15804	0.557000	0.71058	CAG	ZNF677	-	superfamily_Krueppel-associated_box		0.373	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	G	NM_182609		53754791	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.154	C	C	53754791	G	C	53754791	3	2	117	1	0	0	0	0	1	0	0	0	18114	1299	45	1	1753	1	ZNF677	19	53754791	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	740479	53754791	5374192	1243	18711										
ZNF845	91664	genome.wustl.edu	37	chr19	53854421	53854421	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaaaattggtaatcaagttGagaagtctatcaacagtgct	10	5	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53854421G>C	ENST00000595091.1	+	5	712	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	ZNF845_ENST00000458035.1_Missense_Mutation_p.E165Q			Q96IR2	ZN845_HUMAN	zinc finger protein 845	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATCAAGTTGAGAAGTCTAT	0.393																																																	0													70	49	56					19																	53854421		692	1591	2283	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.493G>C	19.37:g.53854421G>C	ENSP00000470005:p.Glu165Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E165Q	ENST00000595091.1	37	c.493	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	G	2.128	-0.399784	0.04865	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.09073	3.02	1.2	0.0182	0.14116	.	.	.	.	.	T	0.08626	0.0214	L	0.58969	1.84	0.09310	N	1	B	0.14012	0.009	B	0.17433	0.018	T	0.33420	-0.9869	9	0.41790	T	0.15	.	4.805	0.13316	0.0:0.2325:0.5328:0.2347	.	165	Q96IR2	ZN845_HUMAN	Q	165	ENSP00000388311:E165Q	ENSP00000412086:E165Q	E	+	1	0	ZNF845	58546233	0.064000	0.20934	0.003000	0.11579	0.025000	0.11179	0.738000	0.26158	0.050000	0.15949	0.411000	0.27672	GAG	ZNF845	-	NULL		0.393	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	G	XM_039908		53854421	1	no_errors	ENST00000458035	ensembl	human	known	70_37	missense	SNP	0.000	C	C	53854421	G	C	53854421	3	2	117	1	0	0	0	0	1	0	0	0	18221	1291	45	1	503	1	ZNF845	19	53854421	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	99630	53854421	5274562	1244	18712										
TMC4	147798	genome.wustl.edu	37	chr19	54666432	54666432	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaaactggatgagcagcgcGactgccaagacagtcagcag	14	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:54666432G>A	ENST00000376591.4	-	10	1625	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V	TMC4_ENST00000416963.1_Silent_p.V80V|TMC4_ENST00000476013.2_5'Flank|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Silent_p.V492V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	498					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGCAGCGCGACTGCCAAGA	0.547																																																	0													45	48	47					19																	54666432		2203	4300	6503	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1494C>T	19.37:g.54666432G>A			Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.V492	ENST00000376591.4	37	c.1476	CCDS46174.1	19																																																																																			TMC4	-	pfam_TMC		0.547	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54666432	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	silent	SNP	0.001	A	A	54666432	G	A	54666432	2	1	117	1	0	0	0	0	0	0	0	1	16017	1045	37	1		1	TMC4	19	54666432	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	812011	54666432	4462551	1245	18713										
NLRP2	55655	genome.wustl.edu	37	chr19	55494074	55494074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccgccctgctggtcaccacGcggcccagggccctgaggga	15	17	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55494074G>A	ENST00000543010.1	+	6	1151	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	NLRP2_ENST00000263437.6_Silent_p.T333T|NLRP2_ENST00000391721.4_Silent_p.T312T|NLRP2_ENST00000339757.7_Silent_p.T314T|NLRP2_ENST00000538819.1_Silent_p.T312T|NLRP2_ENST00000537859.1_Silent_p.T314T|NLRP2_ENST00000448584.2_Silent_p.T336T|NLRP2_ENST00000427260.2_Silent_p.T313T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	336	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGTCACCACGCGGCCCAGGG	0.637																																																	0													31	29	29					19																	55494074		2203	4300	6503	SO:0001819	synonymous_variant	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1008G>A	19.37:g.55494074G>A			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T336	ENST00000543010.1	37	c.1008	CCDS12913.1	19																																																																																			NLRP2	-	pfscan_NACHT_NTPase		0.637	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	G	NM_017852		55494074	1	no_errors	ENST00000448584	ensembl	human	known	70_37	silent	SNP	0.002	A	A	55494074	G	A	55494074	2	1	117	1	0	0	0	0	0	0	0	1	10501	1074	38	2		2	NLRP2	19	55494074	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	827642	55494074	3634909	1246	18714										
SYT5	6861	genome.wustl.edu	37	chr19	55689700	55689700	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctgaagatgaggaggcctGagaccagcacgatggtggcc	16	9	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55689700G>C	ENST00000354308.3	-	3	485	c.116C>G	c.(115-117)tCa>tGa	p.S39*	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Nonsense_Mutation_p.S39*	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	39					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGGAGGCCTGAGACCAGCAC	0.622																																																	0													25	25	25					19																	55689700		2203	4300	6503	SO:0001587	stop_gained	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.116C>G	19.37:g.55689700G>C	ENSP00000346265:p.Ser39*		B3KWJ8|B7Z300|Q86X72	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.S39*	ENST00000354308.3	37	c.116	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.503268	0.97620	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	.	.	.	4.06	4.06	0.47325	.	0.282893	0.32343	N	0.006225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.4131	0.44305	0.1003:0.0:0.8997:0.0	.	.	.	.	X	39	.	ENSP00000346265:S39X	S	-	2	0	SYT5	60381512	1.000000	0.71417	0.986000	0.45419	0.657000	0.38888	4.614000	0.61183	2.214000	0.71695	0.561000	0.74099	TCA	SYT5	-	NULL		0.622	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	G	NM_003180		55689700	-1	no_errors	ENST00000354308	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	55689700	G	C	55689700	4	2	117	1	0	0	0	0	0	1	0	0	15507	1294	45	1	1072	1	SYT5	19	55689700	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	195626	55689700	3439283	1247	18715										
SAPS1	22870	genome.wustl.edu	37	chr19	55743452	55743452	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cattcattcacctggaggctGagggccagggctggggtagg	17	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55743452G>A	ENST00000412770.2	-	18	2682	c.2116C>T	c.(2116-2118)Cag>Tag	p.Q706*	AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.Q706*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	706	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CCTGGAGGCTGAGGGCCAGGG	0.637																																																	0													28	37	34					19																	55743452		2131	4243	6374	SO:0001587	stop_gained	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2116C>T	19.37:g.55743452G>A	ENSP00000414202:p.Gln706*		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Nonsense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.Q706*	ENST00000412770.2	37	c.2116	CCDS46186.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.274211	0.95459	.	.	ENSG00000105063	ENST00000412770	.	.	.	3.53	2.46	0.29980	.	0.916157	0.08872	N	0.881415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.3569	8.2424	0.31669	0.0:0.0:0.7628:0.2372	.	.	.	.	X	706	.	ENSP00000414202:Q706X	Q	-	1	0	PPP6R1	60435264	0.058000	0.20735	0.321000	0.25320	0.241000	0.25554	1.728000	0.38105	1.041000	0.40125	0.462000	0.41574	CAG	PPP6R1	-	NULL		0.637	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1	G	NM_014931		55743452	-1	no_errors	ENST00000412770	ensembl	human	known	70_37	nonsense	SNP	0.196	A	A	55743452	G	A	55743452	4	1	117	1	0	0	0	0	0	1	0	0	13866	1299	45	1	557	1	SAPS1	19	55743452	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	53752	55743452	3385531	1248	18716										
ZNF628	89887	genome.wustl.edu	37	chr19	55994438	55994438	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgccccttcacctgccccatCtgcggtcgcggcttcgttat	9	18	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55994438C>A	ENST00000598519.1	+	3	2431	c.1878C>A	c.(1876-1878)atC>atA	p.I626I	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.I622I|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	626					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTGCCCCATCTGCGGTCGCG	0.711																																																	0													24	26	25					19																	55994438		2201	4295	6496	SO:0001819	synonymous_variant	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1878C>A	19.37:g.55994438C>A			Q86X34	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I626	ENST00000598519.1	37	c.1878	CCDS33116.3	19																																																																																			ZNF628	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.711	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	C	XM_058964		55994438	1	no_errors	ENST00000598519	ensembl	human	known	70_37	silent	SNP	0.235	A	A	55994438	C	A	55994438	2	1	117	1	0	0	0	0	0	0	0	1	18082	903	32	3		3	ZNF628	19	55994438	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	250986	55994438	3134545	1249	18717										
NLRP4	147945	genome.wustl.edu	37	chr19	56369819	56369819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtgtaccagtctgaagcaaGagatgcagaaaggaaaagac	12	6	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369819G>A	ENST00000301295.6	+	3	1482	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E354K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E279K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E354K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGAAGCAAGAGATGCAGAA	0.507																																																	1	Substitution - Missense(1)	urinary_tract(1)											53	48	50					19																	56369819		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1060G>A	19.37:g.56369819G>A	ENSP00000301295:p.Glu354Lys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E354K	ENST00000301295.6	37	c.1060	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035898	0.54896	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83755	-1.76;-1.76	4.1	0.37	0.16160	.	.	.	.	.	D	0.86928	0.6051	L	0.48642	1.525	0.09310	N	1	P;D;D	0.89917	0.937;1.0;1.0	P;D;D	0.77004	0.66;0.989;0.975	T	0.78396	-0.2220	9	0.56958	D	0.05	.	13.1531	0.59500	0.0:0.4543:0.5457:0.0	.	354;279;354	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	354	ENSP00000301295:E354K;ENSP00000344787:E354K	ENSP00000301295:E354K	E	+	1	0	NLRP4	61061631	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-0.840000	0.04363	0.463000	0.27118	0.655000	0.94253	GAG	NLRP4	-	NULL		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56369819	1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56369819	G	A	56369819	3	1	117	1	0	0	0	0	1	0	0	0	10503	943	33	1	1066	1	NLRP4	19	56369819	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	375381	56369819	2759164	1250	18718			9	85		4	3	97	N	G_-	9.246922e-06
NLRP4	147945	genome.wustl.edu	37	chr19	56369832	56369833	+	Frame_Shift_Ins	INS	-	-	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagcaagagatgcagaaaggINSaaaagacctggccctgacct							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369832_56369833insA	ENST00000301295.6	+	3	1495_1496	c.1073_1074insA	c.(1072-1077)ggaaaafs	p.GK358fs	NLRP4_ENST00000346986.5_Frame_Shift_Ins_p.GK358fs|NLRP4_ENST00000587891.1_Frame_Shift_Ins_p.GK283fs	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGCAGAAAGGAAAAGACCTGG	0.51																																																	0																																										SO:0001589	frameshift_variant	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1077dupA	19.37:g.56369836_56369836dupA	ENSP00000301295:p.Gly358fs		Q86W87|Q96AY6	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D360fs	ENST00000301295.6	37	c.1073_1074	CCDS12936.1	19																																																																																			NLRP4	-	NULL		0.51	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	NM_134444		56369833	1	no_errors	ENST00000301295	ensembl	human	known	70_37	frame_shift_ins	INS	0.357:0.000	A	A	56369833	-	A	56369832	7	5	117	1	0	1	1	0	0	0	0	0	10503	1174	41	0	1079	0	NLRP4	19	56369832	Frame_Shift_Ins	INS	-	TCGA-EK-A3GK-01A-11D-A20U-09	13	56369832	2759151	1251	18719	109	2	9	85		4	3	97	N	G_-	9.246922e-06
NLRP4	147945	genome.wustl.edu	37	chr19	56369837	56369837	+	Missense_Mutation	SNP	G	G	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagagatgcagaaaggaaaaGacctggccctgacctgccag							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369837G>A	ENST00000301295.6	+	3	1500	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D360N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D285N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	360	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D360N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGAAAAGACCTGGCCCT	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											52	46	48					19																	56369837		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1078G>A	19.37:g.56369837G>A	ENSP00000301295:p.Asp360Asn		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D360N	ENST00000301295.6	37	c.1078	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777801	0.49786	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83992	-1.79;-1.79	4.1	4.1	0.47936	.	.	.	.	.	T	0.82075	0.4958	L	0.55834	1.745	0.29724	N	0.838441	P;P;P	0.51653	0.889;0.947;0.911	P;P;B	0.50270	0.618;0.636;0.433	T	0.76119	-0.3076	9	0.35671	T	0.21	.	7.9225	0.29854	0.1114:0.0:0.8886:0.0	.	360;285;360	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	360	ENSP00000301295:D360N;ENSP00000344787:D360N	ENSP00000301295:D360N	D	+	1	0	NLRP4	61061649	0.578000	0.26717	0.047000	0.18901	0.003000	0.03518	1.492000	0.35594	2.278000	0.76064	0.655000	0.94253	GAC	NLRP4	-	NULL		0.522	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56369837	1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.621	A	A	56369837	G	A	56369837	3	1	117	1	0	0	0	0	1	0	0	0	10503	942	33	1	1084	1	NLRP4	19	56369837	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5	56369837	2759146	1252	18720	109	2	9	85		4	3	97	N	G_-	9.246922e-06
NLRP4	147945	genome.wustl.edu	37	chr19	56369915	56369915	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgttcacacctgagggtgccGagggcccgactccgcaaacc	12	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369915G>T	ENST00000301295.6	+	3	1578	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E386*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E311*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	386	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E386K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAGGGTGCCGAGGGCCCGAC	0.557																																																	1	Substitution - Missense(1)	large_intestine(1)											57	54	55					19																	56369915		2203	4300	6503	SO:0001587	stop_gained	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1156G>T	19.37:g.56369915G>T	ENSP00000301295:p.Glu386*		Q86W87|Q96AY6	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E386*	ENST00000301295.6	37	c.1156	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.610540	0.96637	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.01	-8.02	0.01118	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	5.9882	0.19446	0.1509:0.4959:0.2686:0.0846	.	.	.	.	X	386	.	ENSP00000301295:E386X	E	+	1	0	NLRP4	61061727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.375000	0.01071	-4.622000	0.00039	-1.785000	0.00643	GAG	NLRP4	-	NULL		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56369915	1	no_errors	ENST00000301295	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	56369915	G	T	56369915	4	4	117	1	0	0	0	0	0	1	0	0	10503	1059	37	3	1162	3	NLRP4	19	56369915	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	78	56369915	2759068	1253	18721			9	85		4	3	97	N	G_-	9.246922e-06
NLRP13	126204	genome.wustl.edu	37	chr19	56422086	56422086	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccatgcgtgcatcctggaatCaaacttgcttgtccttcatg	8	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56422086C>G	ENST00000342929.3	-	6	2124	c.2125G>C	c.(2125-2127)Gat>Cat	p.D709H	NLRP13_ENST00000588751.1_Missense_Mutation_p.D709H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	709							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCTGGAATCAAACTTGCTT	0.453																																																	0													153	134	140					19																	56422086		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2125G>C	19.37:g.56422086C>G	ENSP00000343891:p.Asp709His		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D709H	ENST00000342929.3	37	c.2125	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.572623	0.00887	.	.	ENSG00000173572	ENST00000342929	D	0.92397	-3.03	1.9	-3.81	0.04294	.	.	.	.	.	T	0.80138	0.4568	N	0.19112	0.55	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.64385	-0.6420	9	0.37606	T	0.19	.	0.2529	0.00208	0.1978:0.2579:0.224:0.3203	.	709	Q86W25	NAL13_HUMAN	H	709	ENSP00000343891:D709H	ENSP00000343891:D709H	D	-	1	0	NLRP13	61113898	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.859000	0.04277	-0.961000	0.03609	-0.324000	0.08512	GAT	NLRP13	-	NULL		0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	C	NM_176810		56422086	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56422086	C	G	56422086	3	3	117	1	0	0	0	0	1	0	0	0	10499	826	29	1	1028	1	NLRP13	19	56422086	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	52171	56422086	2706897	1254	18722										
ZNF471	57573	genome.wustl.edu	37	chr19	57036219	57036219	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacatactggagagaaactCtttgaatgtaaagaatgtag	9	5	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57036219C>G	ENST00000308031.5	+	5	916	c.783C>G	c.(781-783)ctC>ctG	p.L261L	ZNF471_ENST00000591537.1_Missense_Mutation_p.S121C|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACTCTTTGAATGTA	0.368																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													98	109	106					19																	57036219		2203	4300	6503	SO:0001819	synonymous_variant	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.783C>G	19.37:g.57036219C>G			B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.S121C	ENST00000308031.5	37	c.362	CCDS12945.1	19																																																																																			ZNF471	-	NULL		0.368	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	C	NM_020813		57036219	1	no_errors	ENST00000591537	ensembl	human	putative	70_37	missense	SNP	0.895	G	G	57036219	C	G	57036219	2	3	117	1	0	0	0	0	0	0	0	1	17960	900	32	1		1	ZNF471	19	57036219	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	614133	57036219	2092764	1255	18723										
ZNF71	58491	genome.wustl.edu	37	chr19	57134007	57134007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaagtccttcatcaagaactCctccctcactgtgcaccagc	6	16	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57134007C>A	ENST00000328070.6	+	3	1586	c.1352C>A	c.(1351-1353)tCc>tAc	p.S451Y		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATCAAGAACTCCTCCCTCACT	0.642																																																	0													77	65	69					19																	57134007		2203	4300	6503	SO:0001583	missense	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1352C>A	19.37:g.57134007C>A	ENSP00000328245:p.Ser451Tyr		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S451Y	ENST00000328070.6	37	c.1352	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761331	0.31228	.	.	ENSG00000197951	ENST00000328070	T	0.08193	3.12	3.97	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	M	0.81497	2.545	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.09552	-1.0669	9	0.62326	D	0.03	.	8.669	0.34138	0.0:0.8906:0.0:0.1094	.	451	Q9NQZ8	ZNF71_HUMAN	Y	451	ENSP00000328245:S451Y	ENSP00000328245:S451Y	S	+	2	0	ZNF71	61825819	0.000000	0.05858	0.980000	0.43619	0.371000	0.29859	0.031000	0.13710	0.888000	0.36160	0.561000	0.74099	TCC	ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57134007	1	no_errors	ENST00000328070	ensembl	human	known	70_37	missense	SNP	0.001	A	A	57134007	C	A	57134007	3	1	117	1	0	0	0	0	1	0	0	0	18144	855	30	3	1354	3	ZNF71	19	57134007	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	97788	57134007	1994976	1256	18724										
ZNF264	9422	genome.wustl.edu	37	chr19	57724321	57724321	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atctgatcaaccataccaaaGagaaaccccacaagtgtctt	5	12	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57724321G>C	ENST00000263095.6	+	4	2270	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	ZNF264_ENST00000536056.1_Missense_Mutation_p.R619T	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCATACCAAAGAGAAACCCCA	0.398																																																	0													62	62	62					19																	57724321		2203	4300	6503	SO:0001583	missense	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1856G>C	19.37:g.57724321G>C	ENSP00000263095:p.Arg619Thr		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R619T	ENST00000263095.6	37	c.1856	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308547	0.40895	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.05382	3.45;3.45	2.56	2.56	0.30785	.	.	.	.	.	T	0.11707	0.0285	N	0.19112	0.55	0.21553	N	0.999645	D	0.57899	0.981	D	0.67231	0.95	T	0.21348	-1.0248	9	0.72032	D	0.01	.	10.8895	0.46988	0.0:0.0:1.0:0.0	.	619	O43296	ZN264_HUMAN	T	619	ENSP00000263095:R619T;ENSP00000440376:R619T	ENSP00000263095:R619T	R	+	2	0	ZNF264	62416133	0.027000	0.19231	0.678000	0.29963	0.633000	0.38033	1.627000	0.37050	1.758000	0.51981	0.491000	0.48974	AGA	ZNF264	-	NULL		0.398	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	G			57724321	1	no_errors	ENST00000263095	ensembl	human	known	70_37	missense	SNP	0.637	C	C	57724321	G	C	57724321	3	2	117	1	0	0	0	0	1	0	0	0	17834	942	33	1	1870	1	ZNF264	19	57724321	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	590314	57724321	1404662	1257	18725										
ZNF749	388567	genome.wustl.edu	37	chr19	57954952	57954952	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catttgtgaaccacagtgctCacgtgggagagaggaacttc	12	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57954952C>T	ENST00000334181.4	+	3	686	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CCACAGTGCTCACGTGGGAGA	0.517																																																	0													135	115	122					19																	57954952		2203	4300	6503	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.436C>T	19.37:g.57954952C>T	ENSP00000333980:p.His146Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H146Y	ENST00000334181.4	37	c.436	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011967	0.35511	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.46063	4.1;0.88	2.07	1.01	0.19927	.	.	.	.	.	T	0.43344	0.1243	M	0.88450	2.955	0.09310	N	1	B	0.26081	0.141	B	0.17722	0.019	T	0.43829	-0.9367	9	0.44086	T	0.13	.	4.2453	0.10669	0.0:0.6485:0.0:0.3515	.	146	O43361	ZN749_HUMAN	Y	146;59	ENSP00000333980:H146Y;ENSP00000397745:H59Y	ENSP00000333980:H146Y	H	+	1	0	ZNF749	62646764	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	0.162000	0.16501	0.427000	0.26145	0.313000	0.20887	CAC	ZNF749	-	NULL		0.517	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	C	NM_001023561		57954952	1	no_errors	ENST00000334181	ensembl	human	known	70_37	missense	SNP	0.001	T	T	57954952	C	T	57954952	3	4	117	1	0	0	0	0	1	0	0	0	18161	826	29	1	446	1	ZNF749	19	57954952	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	230631	57954952	1174031	1258	18726										
ZNF8	7554	genome.wustl.edu	37	chr19	58806852	58806852	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcacgttattggggtggaaGagccttctgtgggtgcttcc	15	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:58806852G>A	ENST00000196548.5	+	4	1809	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.E560K			P17098	ZNF8_HUMAN	zinc finger protein 8	560					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGGGGTGGAAGAGCCTTCTGT	0.453																																																	0													46	47	47					19																	58806852		2184	4267	6451	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1678G>A	19.37:g.58806852G>A	ENSP00000196548:p.Glu560Lys		Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E560K	ENST00000196548.5	37	c.1678	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305005	0.81247	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.08720	3.06	4.57	3.54	0.40534	.	0.000000	0.48286	D	0.000196	T	0.03434	0.0099	N	0.19112	0.55	0.37781	D	0.927016	P	0.39480	0.675	B	0.35353	0.201	T	0.35276	-0.9795	10	0.02654	T	1	-21.2247	5.2323	0.15428	0.2601:0.0:0.7399:0.0	.	560	P17098	ZNF8_HUMAN	K	560;275	ENSP00000196548:E560K	ENSP00000196548:E560K	E	+	1	0	ZNF8	63498664	0.516000	0.26218	1.000000	0.80357	0.927000	0.56198	2.171000	0.42453	2.545000	0.85829	0.456000	0.33151	GAG	ZNF8	-	NULL		0.453	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58806852	1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58806852	G	A	58806852	3	1	117	1	0	0	0	0	1	0	0	0	18197	943	33	1	1692	1	ZNF8	19	58806852	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	851900	58806852	322131	1259	18727										
ZSCAN22	342945	genome.wustl.edu	37	chr19	58850041	58850041	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagtgtcgcgagtgtaggaaGatgttccagagtgcttcggc	15	7	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:58850041G>A	ENST00000329665.4	+	3	972	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGTGTAGGAAGATGTTCCAGA	0.547																																																	0													186	189	188					19																	58850041		2203	4300	6503	SO:0001819	synonymous_variant	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.825G>A	19.37:g.58850041G>A			Q15922|Q7Z3L8	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K275	ENST00000329665.4	37	c.825	CCDS12975.1	19																																																																																			ZSCAN22	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	G	NM_181846		58850041	1	no_errors	ENST00000329665	ensembl	human	known	70_37	silent	SNP	0.121	A	A	58850041	G	A	58850041	2	1	117	1	0	0	0	0	0	0	0	1	18264	933	33	1		1	ZSCAN22	19	58850041	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	43189	58850041	278942	1260	18728										
SLC27A5	10998	genome.wustl.edu	37	chr19	59021320	59021320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccccagataaggacagcatCttgctcatctgcagtacccg	9	14	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:59021320C>G	ENST00000263093.2	-	3	1060	c.951G>C	c.(949-951)aaG>aaC	p.K317N	SLC27A5_ENST00000601355.1_Missense_Mutation_p.K233N	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	317					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.K317N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGACAGCATCTTGCTCATCT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											188	122	144					19																	59021320		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.951G>C	19.37:g.59021320C>G	ENSP00000263093:p.Lys317Asn		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K317N	ENST00000263093.2	37	c.951	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	5.103	0.204655	0.09704	.	.	ENSG00000083807	ENST00000263093	T	0.47528	0.84	4.71	-6.47	0.01902	AMP-dependent synthetase/ligase (1);	2.329850	0.01144	N	0.006268	T	0.15825	0.0381	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.13072	-1.0523	10	0.19147	T	0.46	0.0123	4.0702	0.09879	0.1235:0.1703:0.5149:0.1913	.	317	Q9Y2P5	S27A5_HUMAN	N	317	ENSP00000263093:K317N	ENSP00000263093:K317N	K	-	3	2	SLC27A5	63713132	0.000000	0.05858	0.003000	0.11579	0.469000	0.32828	-1.886000	0.01619	-0.687000	0.05162	0.485000	0.47835	AAG	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.577	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59021320	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.000	G	G	59021320	C	G	59021320	3	3	117	1	0	0	0	0	1	0	0	0	14559	912	32	1	1153	1	SLC27A5	19	59021320	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	171279	59021320	107663	1261	18729										
ZBTB45	84878	genome.wustl.edu	37	chr19	59025616	59025616	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgtgcgtgaccatgtgtttGagcaggtagtcgcgtagaga	16	6	0	3	rs530290313		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:59025616G>C	ENST00000594051.1	-	3	1821	c.1341C>G	c.(1339-1341)ctC>ctG	p.L447L	ZBTB45_ENST00000600990.1_Silent_p.L447L|SLC27A5_ENST00000601355.1_5'Flank|ZBTB45_ENST00000354590.3_Silent_p.L447L|SLC27A5_ENST00000263093.2_5'Flank			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCATGTGTTTGAGCAGGTAGT	0.647																																					NSCLC(164;1383 2017 5233 27540 46677)												0													28	28	28					19																	59025616		2201	4298	6499	SO:0001819	synonymous_variant	84878			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1341C>G	19.37:g.59025616G>C				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L447	ENST00000594051.1	37	c.1341	CCDS12984.1	19																																																																																			ZBTB45	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	HGNC	protein_coding	OTTHUMT00000467067.1	G	NM_032792		59025616	-1	no_errors	ENST00000354590	ensembl	human	known	70_37	silent	SNP	1.000	C	C	59025616	G	C	59025616	2	2	117	1	0	0	0	0	0	0	0	1	17576	1277	45	1		1	ZBTB45	19	59025616	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4296	59025616	103367	1262	18730										
C20orf54	113278	genome.wustl.edu	37	chr20	744585	744585	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggcgggaaggtagcggctCtccaggtgggacaagggtgc	20	8	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:744585C>T	ENST00000217254.7	-	3	871	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SLC52A3_ENST00000381944.3_Silent_p.E210E|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	210					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGTAGCGGCTCTCCAGGTGGG	0.612																																																	0													47	40	43					20																	744585		2203	4300	6503	SO:0001819	synonymous_variant	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.630G>A	20.37:g.744585C>T			A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	pfam_Endogenous_retrovirus_rcpt	p.E210	ENST00000217254.7	37	c.630	CCDS13007.1	20																																																																																			SLC52A3	-	NULL		0.612	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	C	NM_033409		744585	-1	no_errors	ENST00000217254	ensembl	human	known	70_37	silent	SNP	0.995	T	T	744585	C	T	744585	2	4	117	1	0	0	0	0	0	0	0	1	2119	912	32	1		1	C20orf54	20	744585	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		744585	62280935	1263	18731										
TMC2	117532	genome.wustl.edu	37	chr20	2560636	2560636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcatcgtatttcatctttctCcgatggatgtatggagttaa	9	7	3	0	rs368192006		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:2560636C>T	ENST00000358864.1	+	7	783	c.768C>T	c.(766-768)ctC>ctT	p.L256L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	256					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATCTTTCTCCGATGGATGT	0.398																																																	0													241	209	220					20																	2560636		2203	4300	6503	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.768C>T	20.37:g.2560636C>T			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.L256	ENST00000358864.1	37	c.768	CCDS13029.2	20																																																																																			TMC2	-	NULL		0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2560636	1	no_errors	ENST00000358864	ensembl	human	known	70_37	silent	SNP	0.998	T	T	2560636	C	T	2560636	2	4	117	1	0	0	0	0	0	0	0	1	16015	842	30	1		1	TMC2	20	2560636	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1816051	2560636	60464884	1264	18732										
PRNP	5621	genome.wustl.edu	37	chr20	4680616	4680616	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atctctttcctcatcttcctGatagtgggatgaggaaggtc	10	9	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:4680616G>C	ENST00000379440.4	+	2	1037	c.750G>C	c.(748-750)ctG>ctC	p.L250L	PRNP_ENST00000430350.2_Silent_p.L250L	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCATCTTCCTGATAGTGGGAT	0.498																																																	0													45	43	44					20																	4680616		2203	4300	6503	SO:0001819	synonymous_variant	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.750G>C	20.37:g.4680616G>C				Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.L250	ENST00000379440.4	37	c.750	CCDS13080.1	20																																																																																			PRNP	-	pfam_Prion/Doppel_prot_b-ribbon_dom,prints_Prion		0.498	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	G	NM_000311		4680616	1	no_errors	ENST00000379440	ensembl	human	known	70_37	silent	SNP	0.992	C	C	4680616	G	C	4680616	2	2	117	1	0	0	0	0	0	0	0	1	12571	1277	45	1		1	PRNP	20	4680616	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2119980	4680616	58344904	1265	18733										
SLC23A2	9962	genome.wustl.edu	37	chr20	4864395	4864395	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcaagggaccgatgtacttCagtagagccccaggcaggcc	13	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:4864395C>T	ENST00000379333.1	-	9	1109	c.717G>A	c.(715-717)ctG>ctA	p.L239L	SLC23A2_ENST00000338244.1_Silent_p.L239L|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|snoU13_ENST00000516249.1_RNA	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	239					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGATGTACTTCAGTAGAGCCC	0.582																																																	0													94	85	88					20																	4864395		2203	4300	6503	SO:0001819	synonymous_variant	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.717G>A	20.37:g.4864395C>T			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	pfam_Xant/urac/vitC	p.L239	ENST00000379333.1	37	c.717	CCDS13085.1	20																																																																																			SLC23A2	-	pfam_Xant/urac/vitC		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	C			4864395	-1	no_errors	ENST00000338244	ensembl	human	known	70_37	silent	SNP	0.999	T	T	4864395	C	T	4864395	2	4	117	1	0	0	0	0	0	0	0	1	14493	813	29	1		1	SLC23A2	20	4864395	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	183779	4864395	58161125	1266	18734										
CHGB	1114	genome.wustl.edu	37	chr20	5905674	5905674	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaactacagaagatagctgaGaaattcagccaaaggggctg	12	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:5905674G>C	ENST00000378961.4	+	5	2217	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	671						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGATAGCTGAGAAATTCAGCC	0.443																																																	0													81	79	80					20																	5905674		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2013G>C	20.37:g.5905674G>C	ENSP00000368244:p.Glu671Asp		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.E671D	ENST00000378961.4	37	c.2013	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715807	0.68844	.	.	ENSG00000089199	ENST00000378961	T	0.01963	4.53	5.69	1.34	0.21922	.	0.181737	0.38381	N	0.001718	T	0.03959	0.0111	M	0.71581	2.175	0.34104	D	0.66225	P	0.42357	0.777	B	0.42738	0.396	T	0.28299	-1.0048	10	0.87932	D	0	-11.2744	6.6363	0.22885	0.2239:0.1278:0.6482:0.0	.	671	P05060	SCG1_HUMAN	D	671	ENSP00000368244:E671D	ENSP00000368244:E671D	E	+	3	2	CHGB	5853674	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	3.009000	0.49552	0.077000	0.16863	0.655000	0.94253	GAG	CHGB	-	pfam_Granin		0.443	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	G	NM_001819		5905674	1	no_errors	ENST00000378961	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5905674	G	C	5905674	3	2	117	1	0	0	0	0	1	0	0	0	3344	933	33	1	2031	1	CHGB	20	5905674	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1041279	5905674	57119846	1267	18735										
PLCB1	23236	genome.wustl.edu	37	chr20	8665686	8665686	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acatgtctcagcccctttctCactatttcattaattcctcg	3	14	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:8665686C>G	ENST00000338037.6	+	10	997	c.970C>G	c.(970-972)Cac>Gac	p.H324D	PLCB1_ENST00000378641.3_Missense_Mutation_p.H324D|PLCB1_ENST00000378637.2_Missense_Mutation_p.H324D	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	324	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCCCTTTCTCACTATTTCAT	0.423																																																	0													202	198	200					20																	8665686		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.970C>G	20.37:g.8665686C>G	ENSP00000338185:p.His324Asp		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.H324D	ENST00000338037.6	37	c.970	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318404	0.60524	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.65549	-0.16;-0.16;-0.16	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.087990	0.85682	D	0.000000	T	0.63474	0.2514	L	0.58669	1.825	0.80722	D	1	B;P	0.43826	0.1;0.818	B;B	0.39840	0.141;0.311	T	0.68507	-0.5390	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	324;324	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	D	324;324;324;244;244	ENSP00000367908:H324D;ENSP00000338185:H324D;ENSP00000367904:H324D	ENSP00000338185:H324D	H	+	1	0	PLCB1	8613686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.776000	0.62354	2.880000	0.98712	0.650000	0.86243	CAC	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8665686	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8665686	C	G	8665686	3	3	117	1	0	0	0	0	1	0	0	0	12051	826	29	1	1008	1	PLCB1	20	8665686	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2760012	8665686	54359834	1268	18736										
SEC23B	10483	genome.wustl.edu	37	chr20	18505236	18505236	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttggaaggatggtgcaggttCatgagctaagctgtgaagga	16	4	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:18505236C>T	ENST00000336714.3	+	5	958	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	SEC23B_ENST00000377475.3_Missense_Mutation_p.H176Y|SEC23B_ENST00000262544.2_Missense_Mutation_p.H176Y|SEC23B_ENST00000377465.1_Missense_Mutation_p.H176Y	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	176					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGTGCAGGTTCATGAGCTAAG	0.463																																																	0													150	132	138					20																	18505236		2203	4300	6503	SO:0001583	missense	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.526C>T	20.37:g.18505236C>T	ENSP00000338844:p.His176Tyr		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.H176Y	ENST00000336714.3	37	c.526	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480877	0.84747	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	4.91	4.91	0.64330	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.77313	2.365	0.80722	D	1	B;B	0.31125	0.309;0.276	B;B	0.43018	0.267;0.405	T	0.78703	-0.2101	10	0.45353	T	0.12	-25.5328	17.2703	0.87099	0.0:1.0:0.0:0.0	.	158;176	B4DJW8;Q15437	.;SC23B_HUMAN	Y	176	ENSP00000403971:H176Y;ENSP00000338844:H176Y;ENSP00000262544:H176Y;ENSP00000366695:H176Y;ENSP00000366685:H176Y	ENSP00000262544:H176Y	H	+	1	0	SEC23B	18453236	1.000000	0.71417	0.961000	0.40146	0.981000	0.71138	5.708000	0.68377	2.560000	0.86352	0.591000	0.81541	CAT	SEC23B	-	pfam_Sec23/24_trunk_dom		0.463	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	C			18505236	1	no_errors	ENST00000262544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18505236	C	T	18505236	3	4	117	1	0	0	0	0	1	0	0	0	14022	826	29	1	540	1	SEC23B	20	18505236	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9839550	18505236	44520284	1269	18737										
NINL	22981	genome.wustl.edu	37	chr20	25460854	25460854	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcctttacctgctccatcatCagctccgtttctatactcac	3	16	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:25460854C>G	ENST00000278886.6	-	15	1933	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	NINL_ENST00000422516.1_Silent_p.L620L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	620					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCCATCATCAGCTCCGTTT	0.557																																																	0													153	131	138					20																	25460854		2203	4300	6503	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1860G>C	20.37:g.25460854C>G			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L620	ENST00000278886.6	37	c.1860	CCDS33452.1	20																																																																																			NINL	-	NULL		0.557	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25460854	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	silent	SNP	0.024	G	G	25460854	C	G	25460854	2	3	117	1	0	0	0	0	0	0	0	1	10444	813	29	1		1	NINL	20	25460854	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6955618	25460854	37564666	1270	18738										
NANP	140838	genome.wustl.edu	37	chr20	25596592	25596592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tactgactttgcagtctataCtttgtaagagagcaggtaac	9	7	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:25596592C>G	ENST00000304788.3	-	2	942	c.716G>C	c.(715-717)aGt>aCt	p.S239T		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	239					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						GCAGTCTATACTTTGTAAGAG	0.383																																																	0													87	81	83					20																	25596592		2203	4300	6503	SO:0001583	missense	140838			AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"chromosome 20 open reading frame 147", "haloacid dehalogenase-like hydrolase domain containing 4"	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.716G>C	20.37:g.25596592C>G	ENSP00000302441:p.Ser239Thr		B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1	p.S239T	ENST00000304788.3	37	c.716	CCDS13173.1	20	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076176	0.20227	.	.	ENSG00000170191	ENST00000304788	T	0.42900	0.96	5.34	0.732	0.18283	HAD-like domain (2);	0.462128	0.27240	N	0.020269	T	0.22975	0.0555	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13335	-1.0513	10	0.25751	T	0.34	-5.9907	6.5294	0.22318	0.0:0.4241:0.0:0.5759	.	239	Q8TBE9	NANP_HUMAN	T	239	ENSP00000302441:S239T	ENSP00000302441:S239T	S	-	2	0	NANP	25544592	0.696000	0.27757	0.024000	0.17045	0.936000	0.57629	0.895000	0.28363	0.263000	0.21812	0.485000	0.47835	AGT	NANP	-	superfamily_HAD-like_dom		0.383	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	HGNC	protein_coding	OTTHUMT00000078457.2	C	NM_152667		25596592	-1	no_errors	ENST00000304788	ensembl	human	known	70_37	missense	SNP	0.040	G	G	25596592	C	G	25596592	3	3	117	1	0	0	0	0	1	0	0	0	10177	565	20	4	34	4	NANP	20	25596592	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	135738	25596592	37428928	1271	18739										
PDRG1	81572	genome.wustl.edu	37	chr20	30533645	30533645	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaccttgagagctttaagctCatcctggttgagggggttca	13	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:30533645C>T	ENST00000202017.4	-	5	497	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	123					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTTTAAGCTCATCCTGGTTG	0.552																																																	0													81	75	77					20																	30533645		2203	4300	6503	SO:0001583	missense	81572			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"chromosome 20 open reading frame 126"	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.367G>A	20.37:g.30533645C>T	ENSP00000202017:p.Glu123Lys		B2R511|Q96GP3|Q9BUW8	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.E123K	ENST00000202017.4	37	c.367	CCDS13194.1	20	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683292	0.88542	.	.	ENSG00000088356	ENST00000202017	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.66716	0.946	T	0.83267	-0.0045	9	0.87932	D	0	-20.7806	14.1867	0.65609	0.0:1.0:0.0:0.0	.	123	Q9NUG6	PDRG1_HUMAN	K	123	.	ENSP00000202017:E123K	E	-	1	0	PDRG1	29997306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.342000	0.59341	2.436000	0.82500	0.557000	0.71058	GAG	PDRG1	-	NULL		0.552	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDRG1	HGNC	protein_coding	OTTHUMT00000078593.2	C	NM_030815		30533645	-1	no_errors	ENST00000202017	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30533645	C	T	30533645	3	4	117	1	0	0	0	0	1	0	0	0	11714	835	29	1	38	1	PDRG1	20	30533645	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4937053	30533645	32491875	1272	18740										
XKR7	343702	genome.wustl.edu	37	chr20	30585132	30585132	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtacccggcctgggatgctCattttattgaccgccggctc	11	13	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:30585132C>G	ENST00000562532.2	+	3	1786	c.1612C>G	c.(1612-1614)Cat>Gat	p.H538D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	538						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGGATGCTCATTTTATTGA	0.632																																																	0													50	57	55					20																	30585132		2203	4300	6503	SO:0001583	missense	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1612C>G	20.37:g.30585132C>G	ENSP00000477059:p.His538Asp		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.H538D	ENST00000562532.2	37	c.1612	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019812	0.75275	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.72894	2.215	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.80935	-0.1160	9	0.87932	D	0	-7.581	16.7017	0.85351	0.0:1.0:0.0:0.0	.	538	Q5GH72	XKR7_HUMAN	D	538	.	ENSP00000217299:H538D	H	+	1	0	XKR7	30048793	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.651000	0.83577	2.518000	0.84900	0.561000	0.74099	CAT	XKR7	-	NULL		0.632	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	C	NM_001011718		30585132	1	no_errors	ENST00000217299	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30585132	C	G	30585132	3	3	117	1	0	0	0	0	1	0	0	0	17467	826	29	1	1622	1	XKR7	20	30585132	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	51487	30585132	32440388	1273	18741										
SUN5	140732	genome.wustl.edu	37	chr20	31571708	31571708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagcctgggttcccccagttGcttgagatcttcaccttgac	9	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:31571708G>T	ENST00000356173.3	-	13	1124	c.1032C>A	c.(1030-1032)agC>agA	p.S344R	SUN5_ENST00000375523.3_Missense_Mutation_p.S319R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	344	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCCCCAGTTGCTTGAGATCT	0.607																																																	0													90	95	93					20																	31571708		2203	4300	6503	SO:0001583	missense	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1032C>A	20.37:g.31571708G>T	ENSP00000348496:p.Ser344Arg		A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S344R	ENST00000356173.3	37	c.1032	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818352	0.71028	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.56275	0.47;0.47	4.73	3.78	0.43462	Sad1/UNC-like, C-terminal (2);	0.281130	0.40385	N	0.001101	T	0.72236	0.3435	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.75283	-0.3372	10	0.87932	D	0	-34.044	9.1773	0.37120	0.1023:0.0:0.8977:0.0	.	344	Q8TC36	SUN5_HUMAN	R	344;319	ENSP00000348496:S344R;ENSP00000364673:S319R	ENSP00000348496:S344R	S	-	3	2	SUN5	31035369	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	2.496000	0.45346	1.126000	0.42016	-0.251000	0.11542	AGC	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.607	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	G	NM_080675		31571708	-1	no_errors	ENST00000356173	ensembl	human	known	70_37	missense	SNP	0.998	T	T	31571708	G	T	31571708	3	4	117	1	0	0	0	0	1	0	0	0	15424	1310	46	4	111	4	SUN5	20	31571708	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	986576	31571708	31453812	1274	18742										
PROCR	10544	genome.wustl.edu	37	chr20	33764165	33764165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcagctcaatgcctacaacCgcactcggtatgaactgcgg	10	13	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:33764165C>T	ENST00000216968.4	+	3	599	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	173					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGCCTACAACCGCACTCGGTA	0.562																																																	0													118	106	110					20																	33764165		2203	4300	6503	SO:0001583	missense	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.517C>T	20.37:g.33764165C>T	ENSP00000216968:p.Arg173Cys		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.R173C	ENST00000216968.4	37	c.517	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747611	0.69533	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82893	-1.66	5.62	4.66	0.58398	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.616595	0.15730	N	0.247492	D	0.90103	0.6908	M	0.79123	2.44	0.41902	D	0.990425	D	0.89917	1.0	D	0.70935	0.971	D	0.89899	0.4043	10	0.66056	D	0.02	-3.2419	11.765	0.51924	0.1757:0.8243:0.0:0.0	.	173	Q9UNN8	EPCR_HUMAN	C	173	ENSP00000216968:R173C	ENSP00000216968:R173C	R	+	1	0	PROCR	33227826	0.122000	0.22280	0.663000	0.29738	0.841000	0.47740	1.544000	0.36158	1.332000	0.45431	0.563000	0.77884	CGC	PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.562	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	C			33764165	1	no_errors	ENST00000216968	ensembl	human	known	70_37	missense	SNP	0.699	T	T	33764165	C	T	33764165	3	4	117	1	0	0	0	0	1	0	0	0	12574	652	23	2	527	2	PROCR	20	33764165	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2192457	33764165	29261355	1275	18743										
EIF6	3692	genome.wustl.edu	37	chr20	33867892	33867892	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtctgaagacttccaccttGagcacatctgccagaatttc	7	12	2	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:33867892G>C	ENST00000374450.3	-	5	663	c.399C>G	c.(397-399)ctC>ctG	p.L133L	MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000462894.1_5'UTR|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EIF6_ENST00000374443.3_Silent_p.L114L|MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000374436.3_Silent_p.L133L	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTCCACCTTGAGCACATCTG	0.502																																																	0													131	124	126					20																	33867892		2203	4300	6503	SO:0001819	synonymous_variant	3692			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"integrin beta 4 binding protein"	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.399C>G	20.37:g.33867892G>C				Nonsense_Mutation	SNP	NULL	p.S173*	ENST00000374450.3	37	c.518	CCDS13249.1	20																																																																																			EIF6	-	NULL		0.502	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	G	NM_002212		33867892	-1	no_errors	ENST00000415116	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	33867892	G	C	33867892	2	2	117	1	0	0	0	0	0	0	0	1	5057	1277	45	1		1	EIF6	20	33867892	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	103727	33867892	29157628	1276	18744										
PHF20	51230	genome.wustl.edu	37	chr20	34487442	34487442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcacatgaagtatttccatgGaatggagaagtcactggagc	11	7	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:34487442G>T	ENST00000374012.3	+	10	1562	c.1433G>T	c.(1432-1434)gGa>gTa	p.G478V	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	478					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TATTTCCATGGAATGGAGAAG	0.493																																																	0													62	61	61					20																	34487442		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1433G>T	20.37:g.34487442G>T	ENSP00000363124:p.Gly478Val		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.G478V	ENST00000374012.3	37	c.1433	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963002	0.74016	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.52526	1.3;0.66;0.66	6.02	5.07	0.68467	Zinc finger, C2H2 (1);	0.049969	0.85682	D	0.000000	T	0.66287	0.2774	L	0.58101	1.795	0.80722	D	1	B;D	0.89917	0.034;1.0	B;D	0.91635	0.018;0.999	T	0.69957	-0.5004	10	0.72032	D	0.01	.	16.797	0.85605	0.0:0.0:0.8702:0.1298	.	478;478	Q9BVI0;Q66K49	PHF20_HUMAN;.	V	478	ENSP00000363124:G478V;ENSP00000341900:G478V;ENSP00000363112:G478V	ENSP00000341900:G478V	G	+	2	0	PHF20	33950856	1.000000	0.71417	0.888000	0.34837	0.768000	0.43524	7.414000	0.80117	1.549000	0.49425	0.655000	0.94253	GGA	PHF20	-	pfscan_Znf_C2H2		0.493	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	G	NM_016436		34487442	1	no_errors	ENST00000374012	ensembl	human	known	70_37	missense	SNP	0.995	T	T	34487442	G	T	34487442	3	4	117	1	0	0	0	0	1	0	0	0	11855	1174	41	3	1467	3	PHF20	20	34487442	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	619550	34487442	28538078	1277	18745										
DLGAP4	22839	genome.wustl.edu	37	chr20	35128773	35128773	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caggcccccaagattgcccaGatcaagcgcaacctctccta	7	17	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:35128773G>A	ENST00000373907.2	+	9	2470	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q	DLGAP4_ENST00000340491.4_Silent_p.Q218Q|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Silent_p.Q757Q|DLGAP4_ENST00000373913.3_Silent_p.Q754Q|DLGAP4_ENST00000401952.2_Silent_p.Q754Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	757					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGATTGCCCAGATCAAGCGCA	0.642																																																	0													60	61	61					20																	35128773		2203	4300	6503	SO:0001819	synonymous_variant	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2271G>A	20.37:g.35128773G>A			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	pfam_GKAP	p.Q757	ENST00000373907.2	37	c.2271		20																																																																																			DLGAP4	-	pfam_GKAP		0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35128773	1	no_errors	ENST00000339266	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35128773	G	A	35128773	2	1	117	1	0	0	0	0	0	0	0	1	4572	933	33	1		1	DLGAP4	20	35128773	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	641331	35128773	27896747	1278	18746										
DLGAP4	22839	genome.wustl.edu	37	chr20	35129008	35129008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaaagagaacaacctctctGaagaaggtgggtgccacatg	11	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:35129008G>A	ENST00000373907.2	+	9	2705	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	DLGAP4_ENST00000340491.4_Missense_Mutation_p.E297K|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E836K|DLGAP4_ENST00000373913.3_Missense_Mutation_p.E833K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E833K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	836					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAACCTCTCTGAAGAAGGTGG	0.562																																																	0													41	41	41					20																	35129008		2105	4176	6281	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2506G>A	20.37:g.35129008G>A	ENSP00000363014:p.Glu836Lys		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.E836K	ENST00000373907.2	37	c.2506		20	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018435	0.93404	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.86	5.86	0.93980	.	0.044969	0.85682	D	0.000000	T	0.71022	0.3291	M	0.88570	2.965	0.80722	D	1	D;D;P;P	0.65815	0.992;0.995;0.698;0.814	D;D;B;P	0.67382	0.951;0.923;0.371;0.782	T	0.75816	-0.3184	10	0.87932	D	0	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	142;297;836;833	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	K	833;833;836;836;297	ENSP00000363023:E833K;ENSP00000384954:E833K;ENSP00000363014:E836K;ENSP00000341633:E836K;ENSP00000345700:E297K	ENSP00000341633:E836K	E	+	1	0	DLGAP4	34562422	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.858000	0.99539	2.775000	0.95449	0.655000	0.94253	GAA	DLGAP4	-	pfam_GKAP		0.562	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35129008	1	no_errors	ENST00000339266	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35129008	G	A	35129008	3	1	117	1	0	0	0	0	1	0	0	0	4572	1291	45	1	2655	1	DLGAP4	20	35129008	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	235	35129008	27896512	1279	18747										
C20orf132	140699	genome.wustl.edu	37	chr20	35800374	35800374	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagtttctcaacaatggcctCactgagcgggtcctgttggg	12	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:35800374C>T	ENST00000400441.3	-	4	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	MROH8_ENST00000441008.2_Missense_Mutation_p.E142K|MROH8_ENST00000217333.8_Missense_Mutation_p.E71K			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	76																	ACAATGGCCTCACTGAGCGGG	0.468																																																	0													67	67	67					20																	35800374		1959	4141	6100	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.466G>A	20.37:g.35800374C>T	ENSP00000383291:p.Glu156Lys		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E156K	ENST00000400441.3	37	c.466		20	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143692	0.37825	.	.	ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333	T;T;T	0.04015	4.01;4.26;3.73	5.08	0.293	0.15742	.	1.084120	0.07126	N	0.844648	T	0.03220	0.0094	L	0.29908	0.895	0.09310	N	1	B;B;B	0.22909	0.005;0.077;0.035	B;B;B	0.20767	0.014;0.025;0.031	T	0.46624	-0.9178	10	0.07644	T	0.81	2.848	3.6518	0.08206	0.1562:0.4484:0.3045:0.091	.	156;76;166	E7ETR9;Q9H579;Q6PF12	.;CT132_HUMAN;.	K	142;156;71	ENSP00000392144:E142K;ENSP00000383291:E156K;ENSP00000217333:E71K	ENSP00000217333:E71K	E	-	1	0	C20orf132	35233788	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.157000	0.16402	0.532000	0.28657	0.491000	0.48974	GAG	C20orf132	-	superfamily_ARM-type_fold		0.468	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		C	NM_152503		35800374	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	0.000	T	T	35800374	C	T	35800374	3	4	117	1	0	0	0	0	1	0	0	0	2091	835	29	1	2758	1	C20orf132	20	35800374	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	671366	35800374	27225146	1280	18748										
KIAA0406	9675	genome.wustl.edu	37	chr20	36634660	36634660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccttctctttgaggtagttCagcaaaaactgttcgatgtc	8	9	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:36634660C>T	ENST00000373448.2	-	4	2680	c.2442G>A	c.(2440-2442)ctG>ctA	p.L814L	TTI1_ENST00000373447.3_Silent_p.L814L|TTI1_ENST00000449821.1_Silent_p.L814L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	814					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGGTAGTTCAGCAAAAACT	0.408																																																	0													270	247	255					20																	36634660		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2442G>A	20.37:g.36634660C>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.L814	ENST00000373448.2	37	c.2442	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.408	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36634660	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36634660	C	T	36634660	2	4	117	1	0	0	0	0	0	0	0	1	8193	813	29	1		1	KIAA0406	20	36634660	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	834286	36634660	26390860	1281	18749										
PLCG1	5335	genome.wustl.edu	37	chr20	39794982	39794982	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctgcgctgtaatgagtttGagatgcgactttcagagcct	11	10	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:39794982G>C	ENST00000373271.1	+	17	2353	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E650Q|PLCG1_ENST00000373272.2_Missense_Mutation_p.E650Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	650	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TAATGAGTTTGAGATGCGACT	0.587																																																	0													88	82	84					20																	39794982		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1948G>C	20.37:g.39794982G>C	ENSP00000362368:p.Glu650Gln		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.E650Q	ENST00000373271.1	37	c.1948	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959276	0.53400	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.25749	1.78;1.78;1.78	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	M	0.78916	2.43	0.80722	D	1	P;P;P	0.43973	0.823;0.729;0.729	B;B;B	0.39094	0.29;0.151;0.151	T	0.29150	-1.0021	10	0.44086	T	0.13	.	19.6109	0.95606	0.0:0.0:1.0:0.0	.	650;650;650	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Q	650	ENSP00000244007:E650Q;ENSP00000362368:E650Q;ENSP00000362369:E650Q	ENSP00000244007:E650Q	E	+	1	0	PLCG1	39228396	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.869000	0.99810	2.653000	0.90120	0.491000	0.48974	GAG	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_SH2		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	G	NM_182811		39794982	1	no_errors	ENST00000244007	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39794982	G	C	39794982	3	2	117	1	0	0	0	0	1	0	0	0	12059	1291	45	1	2014	1	PLCG1	20	39794982	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3160322	39794982	23230538	1282	18750										
CHD6	84181	genome.wustl.edu	37	chr20	40040818	40040818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttggggatggcaggaactCtctcttccccgctcagggag	13	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:40040818C>G	ENST00000373233.3	-	36	7394	c.7217G>C	c.(7216-7218)aGa>aCa	p.R2406T	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2406					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCAGGAACTCTCTCTTCCCC	0.532																																																	0													111	99	103					20																	40040818		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7217G>C	20.37:g.40040818C>G	ENSP00000362330:p.Arg2406Thr		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2406T	ENST00000373233.3	37	c.7217	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878102	0.91664	.	.	ENSG00000124177	ENST00000373233	T	0.63913	-0.07	5.25	5.25	0.73442	BRK domain (1);	0.095258	0.45606	D	0.000345	T	0.69780	0.3149	L	0.52573	1.65	0.80722	D	1	D	0.55385	0.971	P	0.53360	0.724	T	0.72272	-0.4342	10	0.66056	D	0.02	-14.9616	19.0427	0.93008	0.0:1.0:0.0:0.0	.	2406	Q8TD26	CHD6_HUMAN	T	2406	ENSP00000362330:R2406T	ENSP00000362330:R2406T	R	-	2	0	CHD6	39474232	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.320000	0.79064	2.722000	0.93159	0.655000	0.94253	AGA	CHD6	-	pfam_BRK_domain,smart_BRK_domain		0.532	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40040818	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40040818	C	G	40040818	3	3	117	1	0	0	0	0	1	0	0	0	3334	913	32	1	938	1	CHD6	20	40040818	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	245836	40040818	22984702	1283	18751										
SFRS6	6431	genome.wustl.edu	37	chr20	42086761	42086761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggctatggccgcctcctcGaagtagacctcaaaaatggg	12	11	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:42086761G>A	ENST00000244020.3	+	1	194	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	30	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCGCCTCCTCGAAGTAGACCT	0.647																																																	0													36	39	38					20																	42086761		2203	4299	6502	SO:0001583	missense	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.88G>A	20.37:g.42086761G>A	ENSP00000244020:p.Glu30Lys		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.E30K	ENST00000244020.3	37	c.88	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	g	27.5	4.840677	0.91197	.	.	ENSG00000124193	ENST00000244020	T	0.74421	-0.84	3.81	2.84	0.33178	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74160	0.3680	L	0.37697	1.125	0.58432	D	0.999991	D;P	0.60575	0.988;0.949	P;P	0.55713	0.782;0.49	T	0.75725	-0.3217	10	0.72032	D	0.01	.	12.1034	0.53798	0.0:0.1757:0.8243:0.0	.	30;30	Q13247;A8K588	SRSF6_HUMAN;.	K	30	ENSP00000244020:E30K	ENSP00000244020:E30K	E	+	1	0	SRSF6	41520175	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	5.838000	0.69388	0.764000	0.33197	-0.180000	0.13094	GAA	SRSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.647	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	G	NM_006275		42086761	1	no_errors	ENST00000244020	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42086761	G	A	42086761	3	1	117	1	0	0	0	0	1	0	0	0	14211	1059	37	1	90	1	SFRS6	20	42086761	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2045943	42086761	20938759	1284	18752										
NEURL2	140825	genome.wustl.edu	37	chr20	44517472	44517472	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccagccggtgcaccatgctCctttgtatcactaggcggca	11	14	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:44517472C>T	ENST00000372518.4	-	2	1078	c.783G>A	c.(781-783)agG>agA	p.R261R	CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|SPATA25_ENST00000372519.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	261	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCACCATGCTCCTTTGTATCA	0.542																																																	0													97	81	86					20																	44517472		2203	4300	6503	SO:0001819	synonymous_variant	140825			AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"chromosome 20 open reading frame 163", "neuralized-like 2 (Drosophila)", "neuralized homolog 2 (Drosophila)"	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.783G>A	20.37:g.44517472C>T			Q3KR34	Silent	SNP	pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C	p.R261	ENST00000372518.4	37	c.783	CCDS13384.1	20																																																																																			NEURL2	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.542	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL2	HGNC	protein_coding	OTTHUMT00000079539.2	C			44517472	-1	no_errors	ENST00000372518	ensembl	human	known	70_37	silent	SNP	0.988	T	T	44517472	C	T	44517472	2	4	117	1	0	0	0	0	0	0	0	1	10370	854	30	1		1	NEURL2	20	44517472	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2430711	44517472	18508048	1285	18753										
ELMO2	63916	genome.wustl.edu	37	chr20	45023085	45023085	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcgttagcacctggccactCaatggccactttgacaatgt	10	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:45023085C>G	ENST00000290246.6	-	3	231	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.E13Q|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.E13Q|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.E13Q	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	13					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CCTGGCCACTCAATGGCCACT	0.537																																																	0													126	97	107					20																	45023085		2203	4300	6503	SO:0001583	missense	63916			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.37G>C	20.37:g.45023085C>G	ENSP00000290246:p.Glu13Gln		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E13Q	ENST00000290246.6	37	c.37	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969676	0.74246	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.25085	2.42;2.42;2.42;2.43;1.82	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.39898	1.24	0.80722	D	1	D;B	0.67145	0.996;0.25	P;B	0.61722	0.893;0.061	T	0.03739	-1.1008	10	0.27785	T	0.31	-17.4716	16.7399	0.85456	0.0:1.0:0.0:0.0	.	13;13	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	Q	13	ENSP00000290246:E13Q;ENSP00000379673:E13Q;ENSP00000396519:E13Q;ENSP00000326172:E13Q;ENSP00000416181:E13Q	ENSP00000290246:E13Q	E	-	1	0	ELMO2	44456492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.419000	0.82065	0.591000	0.81541	GAG	ELMO2	-	NULL		0.537	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	C	NM_022086		45023085	-1	no_errors	ENST00000439931	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45023085	C	G	45023085	3	3	117	1	0	0	0	0	1	0	0	0	5078	835	29	1	2205	1	ELMO2	20	45023085	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	505613	45023085	18002435	1286	18754										
TP53RK	112858	genome.wustl.edu	37	chr20	45315590	45315590	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcctctggaagtgctgaaatGaaactcagcccaaagtctat	8	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:45315590G>C	ENST00000372102.3	-	0	594				RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase						lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTGCTGAAATGAAACTCAGCC	0.488																																																	0													128	119	122					20																	45315590		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112858				CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"chromosome 20 open reading frame 64"	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.*203C>G	20.37:g.45315590G>C			B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Missense_Mutation	SNP	pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32	p.F188L	ENST00000372102.3	37	c.564		20	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503782	0.26949	.	.	ENSG00000172315	ENST00000372114	T	0.10668	2.85	5.16	1.97	0.26223	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050488	0.85682	D	0.000000	T	0.13670	0.0331	M	0.75150	2.29	0.80722	D	1	P	0.45957	0.869	P	0.45167	0.472	T	0.12993	-1.0526	10	0.19147	T	0.46	-24.6672	6.7147	0.23296	0.4191:0.0:0.5809:0.0	.	188	Q96S44	PRPK_HUMAN	L	188	ENSP00000361186:F188L	ENSP00000361186:F188L	F	-	3	2	TP53RK	44748997	1.000000	0.71417	0.111000	0.21465	0.002000	0.02628	3.125000	0.50469	0.731000	0.32448	0.655000	0.94253	TTC	TP53RK	-	pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32		0.488	TP53RK-002	KNOWN	basic	protein_coding	TP53RK	HGNC	protein_coding	OTTHUMT00000193688.1	G	NM_033550		45315590	-1	no_errors	ENST00000372114	ensembl	human	known	70_37	missense	SNP	0.997	C	C	45315590	G	C	45315590	1	2	117	0	1	0	0	0	0	0	0	0	16421	1281	45	1		1	TP53RK	20	45315590	3'UTR	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	292505	45315590	17709930	1287	18755										
EYA2	2139	genome.wustl.edu	37	chr20	45630107	45630107	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgagagtgtcccagctcttCtccaggtgagtgccattcac	10	13	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:45630107C>G	ENST00000327619.5	+	3	524	c.150C>G	c.(148-150)ttC>ttG	p.F50L	EYA2_ENST00000317304.6_Missense_Mutation_p.F50L|EYA2_ENST00000357410.3_Missense_Mutation_p.F50L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	50					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCCAGCTCTTCTCCAGGTGAG	0.507																																					Pancreas(120;56 1725 18501 25218 43520)												0													135	119	125					20																	45630107		2203	4300	6503	SO:0001583	missense	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.150C>G	20.37:g.45630107C>G	ENSP00000333640:p.Phe50Leu		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.F50L	ENST00000327619.5	37	c.150	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011275	0.19277	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91686	-2.89;-2.49;-2.87;-0.58	4.29	-8.57	0.00900	.	1.225540	0.05542	N	0.565912	T	0.82079	0.4959	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.53662	-0.8407	10	0.66056	D	0.02	-20.3383	3.6335	0.08141	0.0896:0.1159:0.2909:0.5036	.	50;50;50;50	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	L	50;50;50;50;3	ENSP00000333640:F50L;ENSP00000349986:F50L;ENSP00000321590:F50L;ENSP00000395427:F3L	ENSP00000321590:F50L	F	+	3	2	EYA2	45063514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.843000	0.04350	-3.298000	0.00193	-0.300000	0.09419	TTC	EYA2	-	NULL		0.507	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	C	NM_005244		45630107	1	no_errors	ENST00000327619	ensembl	human	known	70_37	missense	SNP	0.000	G	G	45630107	C	G	45630107	3	3	117	1	0	0	0	0	1	0	0	0	5341	912	32	1	156	1	EYA2	20	45630107	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	314517	45630107	17395413	1288	18756										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47569353	47569353	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagcaaaaatctcatcaatCaaaccactgccaaggctacc	4	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:47569353C>T	ENST00000371917.4	+	5	535	c.535C>T	c.(535-537)Caa>Taa	p.Q179*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	179	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTCATCAATCAAACCACTGC	0.458																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													137	122	127					20																	47569353		2203	4300	6503	SO:0001587	stop_gained	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.535C>T	20.37:g.47569353C>T	ENSP00000360985:p.Gln179*		Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.Q179*	ENST00000371917.4	37	c.535	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.127992	0.97305	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	179	.	ENSP00000360985:Q179X	Q	+	1	0	ARFGEF2	47002760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.809000	0.86057	2.882000	0.98803	0.655000	0.94253	CAA	ARFGEF2	-	superfamily_ARM-type_fold		0.458	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	C	NM_006420		47569353	1	no_errors	ENST00000371917	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47569353	C	T	47569353	4	4	117	1	0	0	0	0	0	1	0	0	853	827	29	1	553	1	ARFGEF2	20	47569353	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1939246	47569353	15456167	1289	18757										
ZNFX1	57169	genome.wustl.edu	37	chr20	47872368	47872368	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaagctgccagcgagaactGaggtccagctgccaaacatc	10	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:47872368G>A	ENST00000396105.1	-	9	3027	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	ZNFX1_ENST00000371754.4_Silent_p.L927L|ZNFX1_ENST00000371752.1_Silent_p.L927L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	927							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCGAGAACTGAGGTCCAGCT	0.483																																																	0													179	129	146					20																	47872368		2203	4300	6503	SO:0001819	synonymous_variant	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2781C>T	20.37:g.47872368G>A			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L927	ENST00000396105.1	37	c.2781	CCDS13417.1	20																																																																																			ZNFX1	-	NULL		0.483	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	G	NM_021035		47872368	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	silent	SNP	0.990	A	A	47872368	G	A	47872368	2	1	117	1	0	0	0	0	0	0	0	1	18235	1277	45	1		1	ZNFX1	20	47872368	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	303015	47872368	15153152	1290	18758										
ADNP	23394	genome.wustl.edu	37	chr20	49509639	49509639	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgttttaggtcccatctcttCatcaatgtgaaccatccgca	6	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:49509639C>A	ENST00000396029.3	-	5	2179	c.1612G>T	c.(1612-1614)Gaa>Taa	p.E538*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.E538*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.E538*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.E538*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	538					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCCATCTCTTCATCAATGTGA	0.408																																																	0													140	131	134					20																	49509639		2203	4300	6503	SO:0001587	stop_gained	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1612G>T	20.37:g.49509639C>A	ENSP00000379346:p.Glu538*		E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E538*	ENST00000396029.3	37	c.1612	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	43	9.830708	0.99275	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-15.8453	19.9474	0.97186	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000342905:E538X	E	-	1	0	ADNP	48943046	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.473000	0.81007	2.710000	0.92621	0.650000	0.86243	GAA	ADNP	-	pfscan_Znf_C2H2		0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	C	NM_181442		49509639	-1	no_errors	ENST00000349014	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49509639	C	A	49509639	4	1	117	1	0	0	0	0	0	1	0	0	323	835	29	3	1700	3	ADNP	20	49509639	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1637271	49509639	13515881	1291	18759										
SALL4	57167	genome.wustl.edu	37	chr20	50418912	50418912	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctggtcctcctccgagttGatgtgctggggtttcgcctg	13	13	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:50418912G>C	ENST00000217086.4	-	1	147	c.36C>G	c.(34-36)atC>atG	p.I12M	SALL4_ENST00000371539.3_Missense_Mutation_p.I12M|SALL4_ENST00000395997.3_Missense_Mutation_p.I12M|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	12					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCCGAGTTGATGTGCTGGG	0.682																																																	0													21	27	25					20																	50418912		2184	4273	6457	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.36C>G	20.37:g.50418912G>C	ENSP00000217086:p.Ile12Met		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I12M	ENST00000217086.4	37	c.36	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095678	0.76870	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.55930	0.49;0.49;3.26	4.69	4.69	0.59074	.	0.000000	0.38272	N	0.001760	T	0.70894	0.3276	M	0.76574	2.34	0.34930	D	0.749265	D;D;D	0.69078	0.997;0.982;0.997	D;P;D	0.64042	0.921;0.843;0.921	T	0.80603	-0.1309	10	0.56958	D	0.05	-30.6134	17.5547	0.87887	0.0:0.0:1.0:0.0	.	12;12;12	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	M	12	ENSP00000217086:I12M;ENSP00000379319:I12M;ENSP00000360594:I12M	ENSP00000217086:I12M	I	-	3	3	SALL4	49852319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.730000	0.84881	2.307000	0.77673	0.591000	0.81541	ATC	SALL4	-	NULL		0.682	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50418912	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50418912	G	C	50418912	3	2	117	1	0	0	0	0	1	0	0	0	13843	1280	45	1	3141	1	SALL4	20	50418912	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	909273	50418912	12606608	1292	18760										
BCAS1	8537	genome.wustl.edu	37	chr20	52601929	52601929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcacggactgtgtgtgccccGatgggttgcatcctttggaa	13	10	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:52601929G>A	ENST00000395961.3	-	7	1203	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	BCAS1_ENST00000371440.3_Missense_Mutation_p.S391L|BCAS1_ENST00000434986.2_Missense_Mutation_p.S104L|BCAS1_ENST00000371435.2_Missense_Mutation_p.S346L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	346						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGTGTGCCCCGATGGGTTGCA	0.532																																																	0													252	220	231					20																	52601929		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1037C>T	20.37:g.52601929G>A	ENSP00000379290:p.Ser346Leu		A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.S391L	ENST00000395961.3	37	c.1172	CCDS13444.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.15|12.15	1.852981|1.852981	0.32699|0.32699	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.06068	.|3.35;3.35;3.35;3.35;3.35	4.34|4.34	3.39|3.39	0.38822|0.38822	.|.	.|1.448190	.|0.04367	.|N	.|0.358459	T|T	0.07369|0.07369	0.0186|0.0186	L|L	0.29908|0.29908	0.895|0.895	0.19575|0.19575	N|N	0.999962|0.999962	.|B;P;P;D;D;D	.|0.56035	.|0.394;0.769;0.876;0.961;0.974;0.974	.|B;B;B;B;B;B	.|0.42422	.|0.062;0.121;0.062;0.387;0.301;0.301	T|T	0.36915|0.36915	-0.9728|-0.9728	5|10	.|0.52906	.|T	.|0.07	3.7824|3.7824	7.9718|7.9718	0.30132|0.30132	0.1162:0.0:0.8838:0.0|0.1162:0.0:0.8838:0.0	.|.	.|346;104;391;346;346;346	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|L	65|253;391;224;346;346;104	.|ENSP00000396361:S253L;ENSP00000360495:S391L;ENSP00000379290:S346L;ENSP00000360490:S346L;ENSP00000409956:S104L	.|ENSP00000360490:S346L	R|S	-|-	1|2	2|0	BCAS1|BCAS1	52035336|52035336	0.058000|0.058000	0.20735|0.20735	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	2.025000|2.025000	0.41059|0.41059	0.789000|0.789000	0.33779|0.33779	0.655000|0.655000	0.94253|0.94253	CGG|TCG	BCAS1	-	NULL		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	G	NM_003657		52601929	-1	no_errors	ENST00000371440	ensembl	human	known	70_37	missense	SNP	0.002	A	A	52601929	G	A	52601929	3	1	117	1	0	0	0	0	1	0	0	0	1351	1059	37	1	741	1	BCAS1	20	52601929	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2183017	52601929	10423591	1293	18761										
SYCP2	10388	genome.wustl.edu	37	chr20	58455490	58455490	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctgtactctgtttcagtatCactaaacagatttttctttt	4	8	5	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:58455490C>G	ENST00000357552.3	-	31	3034	c.2809G>C	c.(2809-2811)Gat>Cat	p.D937H	SYCP2_ENST00000371001.2_Missense_Mutation_p.D937H			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	937					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTTTCAGTATCACTAAACAGA	0.313																																																	0													85	76	79					20																	58455490		2193	4293	6486	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2809G>C	20.37:g.58455490C>G	ENSP00000350162:p.Asp937His		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.D937H	ENST00000357552.3	37	c.2809	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185217	0.57909	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.55930	0.67;0.67;0.49	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	T	0.72843	0.3511	M	0.70275	2.135	0.45690	D	0.998609	D	0.89917	1.0	D	0.97110	1.0	T	0.74044	-0.3791	10	0.87932	D	0	-25.5438	17.4309	0.87539	0.0:1.0:0.0:0.0	.	937	Q9BX26	SYCP2_HUMAN	H	937	ENSP00000360040:D937H;ENSP00000350162:D937H;ENSP00000402456:D937H	ENSP00000350162:D937H	D	-	1	0	SYCP2	57888885	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.437000	0.52863	2.850000	0.98022	0.655000	0.94253	GAT	SYCP2	-	NULL		0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58455490	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58455490	C	G	58455490	3	3	117	1	0	0	0	0	1	0	0	0	15462	826	29	1	1843	1	SYCP2	20	58455490	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5853561	58455490	4570030	1294	18762										
C20orf177	63939	genome.wustl.edu	37	chr20	58520099	58520099	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catgccactgtatcgagtgaGaaaaaactgaaaacaaacgg	9	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:58520099G>C	ENST00000358293.3	+	5	1516	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D	FAM217B_ENST00000360816.3_Missense_Mutation_p.E367D	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	367								p.E367D(1)									TATCGAGTGAGAAAAAACTGA	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											47	48	48					20																	58520099		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1101G>C	20.37:g.58520099G>C	ENSP00000351040:p.Glu367Asp		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.E367D	ENST00000358293.3	37	c.1101	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912848	0.52439	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.33654	1.4;1.4	5.35	5.35	0.76521	.	0.130623	0.34580	N	0.003851	T	0.24928	0.0605	L	0.34521	1.04	0.28809	N	0.89837	P	0.35507	0.506	B	0.31812	0.136	T	0.16808	-1.0390	10	0.33940	T	0.23	-41.9123	9.6756	0.40039	0.0:0.1934:0.6735:0.1331	.	367	Q9NTX9	CT177_HUMAN	D	367	ENSP00000351040:E367D;ENSP00000354056:E367D	ENSP00000351040:E367D	E	+	3	2	C20orf177	57953494	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	1.517000	0.35867	2.497000	0.84241	0.591000	0.81541	GAG	FAM217B	-	NULL		0.403	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58520099	1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58520099	G	C	58520099	3	2	117	1	0	0	0	0	1	0	0	0	2101	933	33	1	1103	1	C20orf177	20	58520099	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	64609	58520099	4505421	1295	18763										
C20orf151	140893	genome.wustl.edu	37	chr20	60994665	60994665	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggacttccttctcgtggatCtccttcagcctgttcagcga	9	13	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:60994665C>G	ENST00000252998.1	-	2	195	c.39G>C	c.(37-39)gaG>gaC	p.E13D		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	13						extracellular space (GO:0005615)											TCTCGTGGATCTCCTTCAGCC	0.657																																																	0													125	109	115					20																	60994665		2203	4300	6503	SO:0001583	missense	140893			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.39G>C	20.37:g.60994665C>G	ENSP00000252998:p.Glu13Asp		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	pfam_CtIP_N	p.E13D	ENST00000252998.1	37	c.39	CCDS13498.1	20	.	.	.	.	.	.	.	.	.	.	C	3.120	-0.180829	0.06380	.	.	ENSG00000130701	ENST00000252998	T	0.22134	1.97	3.89	-5.11	0.02901	Tumour-suppressor protein CtIP N-terminal (1);	0.316379	0.28146	N	0.016437	T	0.07279	0.0184	N	0.12746	0.255	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.13469	-1.0508	10	0.30078	T	0.28	-7.6983	4.1583	0.10272	0.0819:0.2341:0.4117:0.2723	.	13	Q8NC74	CT151_HUMAN	D	13	ENSP00000252998:E13D	ENSP00000252998:E13D	E	-	3	2	C20orf151	60428060	0.000000	0.05858	0.572000	0.28498	0.932000	0.56968	-1.798000	0.01747	-0.872000	0.04037	-0.360000	0.07572	GAG	RBBP8NL	-	pfam_CtIP_N		0.657	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	HGNC	protein_coding	OTTHUMT00000080029.1	C	NM_080833		60994665	-1	no_errors	ENST00000252998	ensembl	human	known	70_37	missense	SNP	0.137	G	G	60994665	C	G	60994665	3	3	117	1	0	0	0	0	1	0	0	0	2096	912	32	1	2007	1	C20orf151	20	60994665	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2474566	60994665	2030855	1296	18764										
SLCO4A1	28231	genome.wustl.edu	37	chr20	61290116	61290116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatctacacggaaatgggccGacggtgagtggccgcgcacc	14	12	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:61290116G>A	ENST00000370507.1	+	2	980	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.R295Q			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	295					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAAATGGGCCGACGGTGAGTG	0.652																																					Pancreas(168;741 2006 10379 40139 45334)												0													25	23	24					20																	61290116		2199	4299	6498	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.884G>A	20.37:g.61290116G>A	ENSP00000359538:p.Arg295Gln		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R295Q	ENST00000370507.1	37	c.884	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966648	0.18659	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.39056	1.1;1.1	4.31	-8.62	0.00881	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.196330	0.06233	N	0.689090	T	0.17365	0.0417	N	0.12887	0.27	0.09310	N	1	B	0.19331	0.035	B	0.16289	0.015	T	0.15925	-1.0420	10	0.14656	T	0.56	.	6.1012	0.20049	0.4669:0.2311:0.302:0.0	.	295	Q96BD0	SO4A1_HUMAN	Q	295	ENSP00000217159:R295Q;ENSP00000359538:R295Q	ENSP00000217159:R295Q	R	+	2	0	SLCO4A1	60760561	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.857000	0.04286	-1.900000	0.01097	-0.275000	0.10095	CGA	SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	G	NM_016354		61290116	1	no_errors	ENST00000217159	ensembl	human	known	70_37	missense	SNP	0.000	A	A	61290116	G	A	61290116	3	1	117	1	0	0	0	0	1	0	0	0	14759	1058	37	1	890	1	SLCO4A1	20	61290116	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	295451	61290116	1735404	1297	18765										
DIDO1	11083	genome.wustl.edu	37	chr20	61525016	61525016	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agaccacacctgaagtacgcAcctgatatttggtgacggag	11	10	0	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:61525016A>T	ENST00000266070.4	-	12	3427		c.e12+1		DIDO1_ENST00000395335.2_Splice_Site|DIDO1_ENST00000395340.1_Splice_Site|DIDO1_ENST00000395343.1_Splice_Site	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGAAGTACGCACCTGATATTT	0.418																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													74	64	67					20																	61525016		2203	4300	6503	SO:0001630	splice_region_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3101+1T>A	20.37:g.61525016A>T			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Splice_Site	SNP	-	e10+2	ENST00000266070.4	37	c.3101+2	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557770	0.27827	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4335	0.75125	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIDO1	60995461	0.998000	0.40836	0.900000	0.35374	0.010000	0.07245	3.984000	0.56923	2.066000	0.61787	0.533000	0.62120	.	DIDO1	-	-		0.418	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	A	NM_080796	Intron	61525016	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	splice_site	SNP	0.988	T	T	61525016	A	T	61525016	5	4	117	1	0	0	0	0	0	0	1	0	4532	173	6	5	3668	5	DIDO1	20	61525016	Splice_Site	SNP	A	TCGA-EK-A3GK-01A-11D-A20U-09	234900	61525016	1500504	1298	18766										
RTEL1	51750	genome.wustl.edu	37	chr20	62324337	62324337	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctttgctgaggaccccaaGaagcacaacctgctccaagg	9	14	1	2	rs147040733		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:62324337G>A	ENST00000360203.5	+	29	3157	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.K944K|RTEL1_ENST00000318100.4_Silent_p.K944K|RTEL1_ENST00000370003.1_Silent_p.K189K|RTEL1_ENST00000508582.2_Silent_p.K968K|RTEL1_ENST00000370018.3_Silent_p.K944K					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGACCCCAAGAAGCACAACC	0.662																																																	0													94	108	103					20																	62324337		2198	4292	6490	SO:0001819	synonymous_variant	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2832G>A	20.37:g.62324337G>A				Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.K944	ENST00000360203.5	37	c.2832		20																																																																																			RTEL1	-	NULL		0.662	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	G	NM_032957		62324337	1	no_errors	ENST00000318100	ensembl	human	known	70_37	silent	SNP	0.916	A	A	62324337	G	A	62324337	2	1	117	1	0	0	0	0	0	0	0	1	13750	933	33	1		1	RTEL1	20	62324337	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	799321	62324337	701183	1299	18767										
PRPF6	57473	genome.wustl.edu	37	chr20	62660803	62660803	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagagcgtggatgccctgaaGaagtgtgagcatgaccccca	13	10	0	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:62660803G>C	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.K795N|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGCCCTGAAGAAGTGTGAGC	0.557																																																	0													111	103	106					20																	62660803		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19254C>G	20.37:g.62660803G>C			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.K835N	ENST00000450537.1	37	c.2505	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916183	0.73098	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.36878	1.23;1.23	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.76838	2.35	0.80722	D	1	P;P	0.45594	0.828;0.862	B;B	0.41723	0.365;0.317	T	0.50013	-0.8877	10	0.41790	T	0.15	-44.8014	19.6383	0.95746	0.0:0.0:1.0:0.0	.	795;835	O94906-2;O94906	.;PRP6_HUMAN	N	835;795	ENSP00000266079:K835N;ENSP00000446216:K795N	ENSP00000266079:K835N	K	+	3	2	PRPF6	62131247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.581000	0.74045	2.728000	0.93425	0.655000	0.94253	AAG	PRPF6	-	NULL		0.557	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	G	NM_020713		62660803	1	no_errors	ENST00000266079	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62660803	G	C	62660803	1	2	117	0	1	0	0	0	0	0	0	0	12601	933	33	1		1	PRPF6	20	62660803	Intron	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	336466	62660803	364717	1300	18768										
RBM11	54033	genome.wustl.edu	37	chr21	15596832	15596832	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttaataatacttctttacctCaagaatattttctctttcag	2	8	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:15596832C>T	ENST00000400577.3	+	4	415	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	136					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTCTTTACCTCAAGAATATTT	0.294																																																	0													55	52	53					21																	15596832		1786	4058	5844	SO:0001587	stop_gained	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.406C>T	21.37:g.15596832C>T	ENSP00000383421:p.Gln136*		Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q136*	ENST00000400577.3	37	c.406	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752996	0.89753	.	.	ENSG00000185272	ENST00000400577	.	.	.	4.92	4.92	0.64577	.	0.082646	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.2467	16.776	0.85550	0.0:1.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000383421:Q136X	Q	+	1	0	RBM11	14518703	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	1.956000	0.40382	2.667000	0.90743	0.650000	0.86243	CAA	RBM11	-	NULL		0.294	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	C	NM_144770		15596832	1	no_errors	ENST00000400577	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	15596832	C	T	15596832	4	4	117	1	0	0	0	0	0	1	0	0	13142	827	29	1	420	1	RBM11	21	15596832	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		15596832	32533063	1301	18769										
ITSN1	6453	genome.wustl.edu	37	chr21	35154300	35154300	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gacgtttttctaaaataggaGattcacttgttacacttaaa	6	6	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:35154300G>C	ENST00000381318.3	+	16	1975	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	ITSN1_ENST00000381291.4_Missense_Mutation_p.D563H|ITSN1_ENST00000379960.5_Missense_Mutation_p.D563H|ITSN1_ENST00000399367.3_Missense_Mutation_p.D563H|ITSN1_ENST00000399349.1_Missense_Mutation_p.D563H|ITSN1_ENST00000399352.1_Missense_Mutation_p.D563H|ITSN1_ENST00000399353.1_Missense_Mutation_p.D526H|ITSN1_ENST00000399338.4_Missense_Mutation_p.D563H|ITSN1_ENST00000399326.3_Missense_Mutation_p.D563H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D563H|ITSN1_ENST00000399355.2_Missense_Mutation_p.D563H|ITSN1_ENST00000381285.4_Missense_Mutation_p.D563H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	563	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAAAATAGGAGATTCACTTGT	0.353																																																	0													57	59	58					21																	35154300		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1687G>C	21.37:g.35154300G>C	ENSP00000370719:p.Asp563His		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.D563H	ENST00000381318.3	37	c.1687	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724252	0.89298	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;2.56;2.56;2.56;1.49;1.49;2.56;1.49;1.49;1.49;1.49;1.49	5.83	5.83	0.93111	.	0.048734	0.85682	D	0.000000	T	0.47116	0.1428	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0;0.998;1.0;1.0;0.993;1.0	D;D;P;D;D;P;D;D;D;D	0.91635	0.999;0.999;0.769;0.999;0.999;0.879;0.999;0.999;0.987;0.999	T	0.31943	-0.9925	10	0.46703	T	0.11	.	20.1195	0.97955	0.0:0.0:1.0:0.0	.	526;526;526;563;563;563;563;563;563;526	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	H	526;563;563;563;563;563;563;563;563;563;563;563;563;563	ENSP00000382290:D526H;ENSP00000370719:D563H;ENSP00000370691:D563H;ENSP00000370685:D563H;ENSP00000382301:D563H;ENSP00000382289:D563H;ENSP00000382292:D563H;ENSP00000382286:D563H;ENSP00000382275:D563H;ENSP00000387377:D563H;ENSP00000382265:D563H;ENSP00000369294:D563H	ENSP00000369294:D563H	D	+	1	0	ITSN1	34076170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.864000	0.92294	2.759000	0.94783	0.650000	0.86243	GAT	ITSN1	-	NULL		0.353	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35154300	1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35154300	G	C	35154300	3	2	117	1	0	0	0	0	1	0	0	0	7946	942	33	1	1745	1	ITSN1	21	35154300	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	19557468	35154300	12975595	1302	18770										
SLC5A3	6526	genome.wustl.edu	37	chr21	35469468	35469468	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggaggtcggtactggaagttCatagactggttttgtggctt	15	5	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:35469468C>G	ENST00000381151.3	+	2	2483	c.1971C>G	c.(1969-1971)ttC>ttG	p.F657L	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.F657L|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	657					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACTGGAAGTTCATAGACTGGT	0.463																																																	0													96	98	97					21																	35469468		2203	4300	6503	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1971C>G	21.37:g.35469468C>G	ENSP00000370543:p.Phe657Leu		O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F657L	ENST00000381151.3	37	c.1971	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	c	11.09	1.537322	0.27475	.	.	ENSG00000198743	ENST00000381151	D	0.84442	-1.85	6.05	4.24	0.50183	.	0.332317	0.31809	N	0.007021	T	0.73148	0.3550	L	0.29908	0.895	0.30822	N	0.737665	B	0.02656	0.0	B	0.01281	0.0	T	0.62685	-0.6802	10	0.15499	T	0.54	.	7.7113	0.28679	0.1333:0.7319:0.0:0.1348	.	657	P53794	SC5A3_HUMAN	L	657	ENSP00000370543:F657L	ENSP00000370543:F657L	F	+	3	2	SLC5A3	34391338	0.941000	0.31946	1.000000	0.80357	0.975000	0.68041	0.425000	0.21346	0.881000	0.35993	-0.150000	0.13652	TTC	SLC5A3	-	NULL		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	C			35469468	1	no_errors	ENST00000381151	ensembl	human	known	70_37	missense	SNP	0.998	G	G	35469468	C	G	35469468	3	3	117	1	0	0	0	0	1	0	0	0	14696	825	29	1	1973	1	SLC5A3	21	35469468	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	315168	35469468	12660427	1303	18771										
SLC37A1	54020	genome.wustl.edu	37	chr21	43955658	43955658	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tatgccgtggggatgtacctCaggtaggtctccttcagttt	12	9	3	0	rs199619177		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:43955658C>T	ENST00000352133.2	+	5	1330	c.348C>T	c.(346-348)ctC>ctT	p.L116L	SLC37A1_ENST00000398341.3_Silent_p.L116L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	116					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGATGTACCTCAGGTAGGTCT	0.542																																																	0													156	150	152					21																	43955658		2203	4300	6503	SO:0001819	synonymous_variant	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.348C>T	21.37:g.43955658C>T			D3DSJ7|Q9HAQ1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L116	ENST00000352133.2	37	c.348	CCDS13689.1	21																																																																																			SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.542	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	C			43955658	1	no_errors	ENST00000352133	ensembl	human	known	70_37	silent	SNP	0.997	T	T	43955658	C	T	43955658	2	4	117	1	0	0	0	0	0	0	0	1	14627	813	29	1		1	SLC37A1	21	43955658	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8486190	43955658	4174237	1304	18772										
PKNOX1	5316	genome.wustl.edu	37	chr21	44430304	44430304	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagaaggaagggaaacctttCttttgtgaagatccagaaac	11	6	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:44430304C>G	ENST00000291547.5	+	4	532	c.321C>G	c.(319-321)ttC>ttG	p.F107L	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	107					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGAAACCTTTCTTTTGTGAAG	0.323																																																	0													43	41	42					21																	44430304		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.321C>G	21.37:g.44430304C>G	ENSP00000291547:p.Phe107Leu		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.F107L	ENST00000291547.5	37	c.321	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591254	0.46214	.	.	ENSG00000160199	ENST00000291547	T	0.30448	1.53	5.5	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	L	0.39692	1.235	0.80722	D	1	D;D;D	0.69078	0.974;0.997;0.99	D;D;D	0.72982	0.969;0.97;0.979	T	0.21245	-1.0251	10	0.17832	T	0.49	-6.8424	5.3297	0.15926	0.0:0.4281:0.0:0.5719	.	107;107;107	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	107	ENSP00000291547:F107L	ENSP00000291547:F107L	F	+	3	2	PKNOX1	43303373	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	1.226000	0.32563	0.706000	0.31912	0.561000	0.74099	TTC	PKNOX1	-	NULL		0.323	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	C			44430304	1	no_errors	ENST00000291547	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44430304	C	G	44430304	3	3	117	1	0	0	0	0	1	0	0	0	12006	912	32	1	331	1	PKNOX1	21	44430304	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	474646	44430304	3699591	1305	18773										
DNMT3L	29947	genome.wustl.edu	37	chr21	45675965	45675965	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcacctttcttgatgtcttCaaaaagggacagcacccgga	8	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:45675965C>G	ENST00000418993.1	-	7	1072	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	DNMT3L_ENST00000270172.3_Missense_Mutation_p.E197Q	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	197					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGATGTCTTCAAAAAGGGAC	0.512																																																	0													105	106	105					21																	45675965		2203	4300	6503	SO:0001583	missense	29947			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.589G>C	21.37:g.45675965C>G	ENSP00000412862:p.Glu197Gln		E9PB42|Q9BUJ4	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E197Q	ENST00000418993.1	37	c.589	CCDS46650.1	21	.	.	.	.	.	.	.	.	.	.	C	4.362	0.066661	0.08388	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76709	-1.04;-1.04;-1.04	3.44	1.53	0.23141	.	0.678701	0.12440	U	0.468757	T	0.56031	0.1958	N	0.08118	0	0.23101	N	0.998299	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49244	-0.8960	10	0.72032	D	0.01	-16.2042	6.0311	0.19681	0.0:0.7436:0.0:0.2564	.	197;197	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	Q	197;197;182	ENSP00000270172:E197Q;ENSP00000412862:E197Q;ENSP00000400242:E182Q	ENSP00000270172:E197Q	E	-	1	0	DNMT3L	44500393	0.994000	0.37717	0.206000	0.23566	0.010000	0.07245	2.978000	0.49305	0.262000	0.21774	0.462000	0.41574	GAA	DNMT3L	-	NULL		0.512	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1	C	NM_013369		45675965	-1	no_errors	ENST00000270172	ensembl	human	known	70_37	missense	SNP	0.965	G	G	45675965	C	G	45675965	3	3	117	1	0	0	0	0	1	0	0	0	4688	835	29	1	598	1	DNMT3L	21	45675965	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1245661	45675965	2453930	1306	18774										
C21orf29	54084	genome.wustl.edu	37	chr21	45924684	45924684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtaaataatactgttcaccGagaaggtacgcccatcgaag	9	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:45924684G>A	ENST00000323084.4	-	11	1900	c.1835C>T	c.(1834-1836)tCg>tTg	p.S612L	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	612					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACTGTTCACCGAGAAGGTACG	0.577																																																	0													78	75	76					21																	45924684		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1835C>T	21.37:g.45924684G>A	ENSP00000321987:p.Ser612Leu			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.S612L	ENST00000323084.4	37	c.1835	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924246	0.34002	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	D	0.85629	-2.01	4.72	-0.607	0.11615	.	0.626077	0.17067	N	0.188318	T	0.80121	0.4565	M	0.67953	2.075	0.80722	D	1	B	0.31227	0.314	B	0.28139	0.086	T	0.72033	-0.4412	10	0.49607	T	0.09	-17.7527	8.964	0.35865	0.4046:0.0:0.5954:0.0	.	612	Q8WU66	TSEAR_HUMAN	L	612;465	ENSP00000321987:S612L	ENSP00000321987:S612L	S	-	2	0	TSPEAR	44749112	1.000000	0.71417	0.252000	0.24328	0.450000	0.32258	3.916000	0.56416	-0.087000	0.12528	-0.355000	0.07637	TCG	TSPEAR	-	pfam_EPTP,pfscan_EAR		0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	G	NM_144991		45924684	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	0.913	A	A	45924684	G	A	45924684	3	1	117	1	0	0	0	0	1	0	0	0	2129	1059	37	1	182	1	C21orf29	21	45924684	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	248719	45924684	2205211	1307	18775										
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46066445	46066445	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcaggtggacgactgcccaGagagctgctgtgagcccccc	15	14	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46066445G>C	ENST00000334670.8	+	1	115	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	24						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CGACTGCCCAGAGAGCTGCTG	0.701																																																	0													42	48	46					21																	46066445		2178	4268	6446	SO:0001583	missense	386678			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.70G>C	21.37:g.46066445G>C	ENSP00000334197:p.Glu24Gln		A2RRF9	Missense_Mutation	SNP	NULL	p.E24Q	ENST00000334670.8	37	c.70	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	g	12.05	1.821081	0.32237	.	.	ENSG00000243489	ENST00000334670	T	0.10099	2.91	3.83	3.83	0.44106	.	.	.	.	.	T	0.22704	0.0548	L	0.48642	1.525	0.30245	N	0.794633	D	0.69078	0.997	P	0.60682	0.878	T	0.02885	-1.1098	9	0.59425	D	0.04	.	13.2262	0.59916	0.0:0.0:1.0:0.0	.	24	P60412	KR10B_HUMAN	Q	24	ENSP00000334197:E24Q	ENSP00000334197:E24Q	E	+	1	0	KRTAP10-11	44890873	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	4.455000	0.60075	1.679000	0.50963	0.462000	0.41574	GAG	KRTAP10-11	-	NULL		0.701	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	G	NM_198692		46066445	1	no_errors	ENST00000334670	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46066445	G	C	46066445	3	2	117	1	0	0	0	0	1	0	0	0	8527	943	33	1	72	1	KRTAP10-11	21	46066445	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	141761	46066445	2063450	1308	18776										
KRTAP12-4	386684	genome.wustl.edu	37	chr21	46074281	46074281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acccagaggttgggcagaagGaagccacacacaaaacaggc	12	11	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46074281G>A	ENST00000391618.1	-	1	295	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	84	15 X 5 AA approximate repeats.					keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						TGGGCAGAAGGAAGCCACACA	0.647																																																	0													39	49	45					21																	46074281		2177	4288	6465	SO:0001583	missense	386684			AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"Keratin associated proteins"	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.251C>T	21.37:g.46074281G>A	ENSP00000375476:p.Ser84Phe		Q08AF5	Missense_Mutation	SNP	NULL	p.S84F	ENST00000391618.1	37	c.251	CCDS42963.1	21	.	.	.	.	.	.	.	.	.	.	g	12.03	1.814808	0.32053	.	.	ENSG00000212933	ENST00000391618	T	0.02015	4.5	3.22	1.31	0.21738	.	.	.	.	.	T	0.03220	0.0094	L	0.52905	1.665	0.09310	N	1	D	0.53151	0.958	B	0.43950	0.437	T	0.44112	-0.9349	9	0.56958	D	0.05	.	5.8029	0.18424	0.2268:0.0:0.7732:0.0	.	84	P60329	KR124_HUMAN	F	84	ENSP00000375476:S84F	ENSP00000375476:S84F	S	-	2	0	KRTAP12-4	44898709	0.013000	0.17824	0.002000	0.10522	0.029000	0.11900	1.515000	0.35845	0.341000	0.23771	0.467000	0.42956	TCC	KRTAP12-4	-	NULL		0.647	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-4	HGNC	protein_coding	OTTHUMT00000128036.1	G			46074281	-1	no_errors	ENST00000391618	ensembl	human	known	70_37	missense	SNP	0.002	A	A	46074281	G	A	46074281	3	1	117	1	0	0	0	0	1	0	0	0	8541	1174	41	1	91	1	KRTAP12-4	21	46074281	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7836	46074281	2055614	1309	18777										
COL18A1	80781	genome.wustl.edu	37	chr21	46925806	46925806	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccaggtgcacgaggttcccGagggctggctcatcttcgtg	15	12	2	0	rs201265799		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46925806G>C	ENST00000359759.4	+	36	4408	c.4387G>C	c.(4387-4389)Gag>Cag	p.E1463Q	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.E1228Q|COL18A1_ENST00000400337.2_Missense_Mutation_p.E1048Q			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1463	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGAGGTTCCCGAGGGCTGGCT	0.667																																																	0													72	84	80					21																	46925806		2071	4183	6254	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4387G>C	21.37:g.46925806G>C	ENSP00000352798:p.Glu1463Gln		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.E1463Q	ENST00000359759.4	37	c.4387		21	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148798	0.78001	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	3.93	3.93	0.45458	Collagenase NC10/endostatin (1);	0.000000	0.85682	U	0.000000	T	0.69557	0.3124	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.993;0.993	T	0.73282	-0.4032	10	0.45353	T	0.12	.	13.0632	0.59018	0.0:0.0:1.0:0.0	.	1463;1045;1228;1048	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	Q	1048;1048;1228;1463;1463;396	ENSP00000383191:E1048Q;ENSP00000347665:E1228Q;ENSP00000352798:E1463Q;ENSP00000339118:E396Q	ENSP00000339118:E396Q	E	+	1	0	COL18A1	45750234	1.000000	0.71417	0.909000	0.35828	0.937000	0.57800	5.448000	0.66612	1.911000	0.55334	0.491000	0.48974	GAG	COL18A1	-	pfam_Collagenase_NC10/endostatin		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46925806	1	no_errors	ENST00000359759	ensembl	human	known	70_37	missense	SNP	0.982	C	C	46925806	G	C	46925806	3	2	117	1	0	0	0	0	1	0	0	0	3680	1059	37	1	4638	1	COL18A1	21	46925806	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	851525	46925806	1204089	1310	18778										
COL18A1	80781	genome.wustl.edu	37	chr21	46925859	46925859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagctctacgtccgcgtgcaGaacgggttccggaaggtcca	14	12	1	1	rs374911370		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46925859G>C	ENST00000359759.4	+	36	4461	c.4440G>C	c.(4438-4440)caG>caC	p.Q1480H	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.Q1245H|COL18A1_ENST00000400337.2_Missense_Mutation_p.Q1065H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1480	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCGCGTGCAGAACGGGTTCC	0.662																																																	0													97	115	109					21																	46925859		2093	4189	6282	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4440G>C	21.37:g.46925859G>C	ENSP00000352798:p.Gln1480His		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.Q1480H	ENST00000359759.4	37	c.4440		21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.944|5.944	0.358124|0.358124	0.11239|0.11239	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	3.69|3.69	-5.73|-5.73	0.02398|0.02398	Collagenase NC10/endostatin (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.11922|0.11922	0.0290|0.0290	N|N	0.08118|0.08118	0|0	0.21740|0.21740	N|N	0.99957|0.99957	P;B;B;B|.	0.34757|.	0.467;0.087;0.216;0.216|.	B;B;B;B|.	0.35470|.	0.203;0.132;0.128;0.128|.	T|T	0.22208|0.22208	-1.0223|-1.0223	10|5	0.44086|.	T|.	0.13|.	.|.	1.6948|1.6948	0.02859|0.02859	0.4122:0.2298:0.2427:0.1153|0.4122:0.2298:0.2427:0.1153	.|.	1480;1062;1245;1065|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	H|T	1065;1065;1245;1480;1480;413|61	ENSP00000383191:Q1065H;ENSP00000347665:Q1245H;ENSP00000352798:Q1480H;ENSP00000339118:Q413H|.	ENSP00000339118:Q413H|.	Q|R	+|+	3|2	2|0	COL18A1|COL18A1	45750287|45750287	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.154000|0.154000	0.21943|0.21943	-3.346000|-3.346000	0.00503|0.00503	-1.065000|-1.065000	0.03168|0.03168	-0.339000|-0.339000	0.08088|0.08088	CAG|AGA	COL18A1	-	pfam_Collagenase_NC10/endostatin		0.662	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46925859	1	no_errors	ENST00000359759	ensembl	human	known	70_37	missense	SNP	0.031	C	C	46925859	G	C	46925859	3	2	117	1	0	0	0	0	1	0	0	0	3680	933	33	1	4691	1	COL18A1	21	46925859	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	53	46925859	1204036	1311	18779										
MCM3AP	8888	genome.wustl.edu	37	chr21	47690437	47690437	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctgaacagcaaatttcacctCagatgagtttctaacagcag	7	10	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:47690437C>A	ENST00000397708.1	-	10	2760	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*	MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.E836*			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	836	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATTTCACCTCAGATGAGTTT	0.358																																																	0													78	74	75					21																	47690437		2203	4300	6503	SO:0001587	stop_gained	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2506G>T	21.37:g.47690437C>A	ENSP00000380820:p.Glu836*		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.E836*	ENST00000397708.1	37	c.2506	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	40	7.978949	0.98591	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-36.3796	20.4366	0.99092	0.0:1.0:0.0:0.0	.	.	.	.	X	836	.	ENSP00000291688:E836X	E	-	1	0	MCM3AP	46514865	1.000000	0.71417	0.968000	0.41197	0.928000	0.56348	5.753000	0.68736	2.837000	0.97791	0.591000	0.81541	GAG	MCM3AP	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25		0.358	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	C	NM_003906		47690437	-1	no_errors	ENST00000291688	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	47690437	C	A	47690437	4	1	117	1	0	0	0	0	0	1	0	0	9411	835	29	3	3516	3	MCM3AP	21	47690437	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	764578	47690437	439458	1312	18780										
DIP2A	23181	genome.wustl.edu	37	chr21	47969760	47969760	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agcagcggccggatgcctcgGaggaggacagcttccagtgg	17	11	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:47969760G>T	ENST00000417564.2	+	22	2620	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	DIP2A_ENST00000457905.3_Nonsense_Mutation_p.E867*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.E863*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.E803*|DIP2A_ENST00000318711.7_Nonsense_Mutation_p.E868*			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	867					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGATGCCTCGGAGGAGGACAG	0.637																																																	0													72	80	77					21																	47969760		2202	4300	6502	SO:0001587	stop_gained	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2599G>T	21.37:g.47969760G>T	ENSP00000392066:p.Glu867*		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E868*	ENST00000417564.2	37	c.2602	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.517594	0.98845	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000417564	.	.	.	4.77	4.77	0.60923	.	0.124952	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-29.3403	17.1613	0.86804	0.0:0.0:1.0:0.0	.	.	.	.	X	863;803;868;867;867	.	ENSP00000323633:E868X	E	+	1	0	DIP2A	46794188	1.000000	0.71417	0.938000	0.37757	0.977000	0.68977	9.650000	0.98490	2.355000	0.79922	0.655000	0.94253	GAG	DIP2A	-	NULL		0.637	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47969760	1	no_errors	ENST00000318711	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47969760	G	T	47969760	4	4	117	1	0	0	0	0	0	1	0	0	4537	1175	41	3	2734	3	DIP2A	21	47969760	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	279323	47969760	160135	1313	18781										
SLC25A18	83733	genome.wustl.edu	37	chr22	18069913	18069913	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cccttccagccgtccatcatCagggctcggcctcagcaccc	8	20	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:18069913C>G	ENST00000327451.6	+	8	959	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.Q141E	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	141						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CGTCCATCATCAGGGCTCGGC	0.612																																					Colon(118;1560 1625 18964 29606 50093)												0													167	147	154					22																	18069913		2203	4300	6503	SO:0001583	missense	83733			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.421C>G	22.37:g.18069913C>G	ENSP00000329033:p.Gln141Glu			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q141E	ENST00000327451.6	37	c.421	CCDS13744.1	22	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930112	0.34096	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.79940	-1.32;-1.32	4.75	3.7	0.42460	Mitochondrial carrier domain (2);	0.558655	0.19447	N	0.114034	T	0.73313	0.3571	L	0.42581	1.335	0.32218	N	0.575669	B	0.16603	0.018	B	0.25987	0.065	T	0.69533	-0.5120	10	0.18276	T	0.48	-15.6811	12.3895	0.55350	0.0:0.8297:0.1703:0.0	.	141	Q9H1K4	GHC2_HUMAN	E	141	ENSP00000329033:Q141E;ENSP00000382710:Q141E	ENSP00000329033:Q141E	Q	+	1	0	SLC25A18	16449913	0.985000	0.35326	0.023000	0.16930	0.011000	0.07611	1.810000	0.38932	1.097000	0.41459	0.485000	0.47835	CAG	SLC25A18	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.612	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A18	HGNC	protein_coding	OTTHUMT00000316214.3	C	NM_031481		18069913	1	no_errors	ENST00000327451	ensembl	human	known	70_37	missense	SNP	0.757	G	G	18069913	C	G	18069913	3	3	117	1	0	0	0	0	1	0	0	0	14510	827	29	1	443	1	SLC25A18	22	18069913	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09		18069913	33234653	1314	18782										
C22orf25	128989	genome.wustl.edu	37	chr22	20030962	20030962	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggaacaacaacgagatcctCagtggtgagtcttcctgcgt	12	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20030962C>T	ENST00000327374.4	+	3	319	c.141C>T	c.(139-141)ctC>ctT	p.L47L	TANGO2_ENST00000398042.2_Silent_p.L47L|TANGO2_ENST00000432883.1_Silent_p.L47L|TANGO2_ENST00000401833.1_Silent_p.L88L|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000420290.2_5'UTR|TANGO2_ENST00000401886.1_Silent_p.L47L|TANGO2_ENST00000434570.2_Silent_p.L88L|TANGO2_ENST00000456048.1_Silent_p.L52L|TANGO2_ENST00000447208.2_Silent_p.L47L	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	47																	ACGAGATCCTCAGTGGTGAGT	0.572																																																	0													123	127	126					22																	20030962		2203	4300	6503	SO:0001819	synonymous_variant	128989				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.141C>T	22.37:g.20030962C>T			A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	pfam_DUF833	p.L52	ENST00000327374.4	37	c.156	CCDS13772.1	22																																																																																			C22orf25	-	pfam_DUF833		0.572	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf25	HGNC	protein_coding	OTTHUMT00000318689.2	C	NM_152906		20030962	1	no_errors	ENST00000456048	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20030962	C	T	20030962	2	4	117	1	0	0	0	0	0	0	0	1	2144	813	29	1		1	C22orf25	22	20030962	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1961049	20030962	31273604	1315	18783										
DGCR8	54487	genome.wustl.edu	37	chr22	20093767	20093767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagcaaggctgggctgttgtCtccatatcagatcctccacg	10	13	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20093767C>T	ENST00000351989.3	+	10	2285	c.1856C>T	c.(1855-1857)tCt>tTt	p.S619F	DGCR8_ENST00000407755.1_Missense_Mutation_p.S586F|DGCR8_ENST00000383024.2_Missense_Mutation_p.S586F	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	619	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGCTGTTGTCTCCATATCAG	0.557																																																	0													64	61	62					22																	20093767		2203	4300	6503	SO:0001583	missense	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1856C>T	22.37:g.20093767C>T	ENSP00000263209:p.Ser619Phe		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.S619F	ENST00000351989.3	37	c.1856	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914201	0.92178	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.36878	1.23;1.34;1.34	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.985	T	0.61922	-0.6963	10	0.87932	D	0	-12.455	16.9668	0.86288	0.0:1.0:0.0:0.0	.	586;619	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	F	619;586;586	ENSP00000263209:S619F;ENSP00000372488:S586F;ENSP00000384726:S586F	ENSP00000263209:S619F	S	+	2	0	DGCR8	18473767	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.044000	0.76578	2.532000	0.85374	0.467000	0.42956	TCT	DGCR8	-	NULL		0.557	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	C			20093767	1	no_errors	ENST00000351989	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20093767	C	T	20093767	3	4	117	1	0	0	0	0	1	0	0	0	4474	913	32	1	1890	1	DGCR8	22	20093767	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	62805	20093767	31210799	1316	18784										
MED15	51586	genome.wustl.edu	37	chr22	20940943	20940943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactcggtcaccgccttgctCaacacctgggcccagagcgt	10	17	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20940943C>T	ENST00000263205.7	+	18	2388	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	MED15_ENST00000541476.1_Silent_p.L707L|MED15_ENST00000425759.2_Silent_p.L622L|MED15_ENST00000382974.2_Silent_p.L662L|MED15_ENST00000292733.7_Silent_p.L733L|MED15_ENST00000406969.1_Silent_p.L707L|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	773					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCGCCTTGCTCAACACCTGGG	0.667																																																	0													58	56	57					22																	20940943		2203	4300	6503	SO:0001819	synonymous_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2319C>T	22.37:g.20940943C>T			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	pfam_Mediator_Med15_met	p.L773	ENST00000263205.7	37	c.2319	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met		0.667	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	C	NM_015889		20940943	1	no_errors	ENST00000263205	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20940943	C	T	20940943	2	4	117	1	0	0	0	0	0	0	0	1	9456	813	29	1		1	MED15	22	20940943	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	847176	20940943	30363623	1317	18785										
CCDC116	164592	genome.wustl.edu	37	chr22	21991321	21991321	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgaggatgagttcaaggatGaagaccaggatgaggacaag	15	4	1	5			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:21991321G>A	ENST00000292779.3	+	5	1965	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					gttcaaggatgaagaccagga	0.572																																																	0													39	30	33					22																	21991321		2203	4298	6501	SO:0001583	missense	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1804G>A	22.37:g.21991321G>A	ENSP00000292779:p.Glu602Lys		Q8N9Y9	Missense_Mutation	SNP	NULL	p.E602K	ENST00000292779.3	37	c.1804	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365925	0.24684	.	.	ENSG00000161180	ENST00000292779	T	0.17213	2.29	3.29	3.29	0.37713	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.09310	N	1	P	0.50819	0.939	P	0.45474	0.482	T	0.08166	-1.0735	8	0.33940	T	0.23	-15.748	10.2328	0.43264	0.0:0.0:1.0:0.0	.	602	Q8IYX3-2	.	K	602	ENSP00000292779:E602K	ENSP00000292779:E602K	E	+	1	0	CCDC116	20321321	0.006000	0.16342	0.008000	0.14137	0.031000	0.12232	1.121000	0.31283	1.863000	0.54032	0.491000	0.48974	GAA	CCDC116	-	NULL		0.572	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	HGNC	protein_coding	OTTHUMT00000320199.1	G	NM_152612		21991321	1	no_errors	ENST00000292779	ensembl	human	known	70_37	missense	SNP	0.010	A	A	21991321	G	A	21991321	3	1	117	1	0	0	0	0	1	0	0	0	2758	1291	45	1	1818	1	CCDC116	22	21991321	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1050378	21991321	29313245	1318	18786										
DERL3	91319	genome.wustl.edu	37	chr22	24179859	24179859	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctcacccagcaggtccacGaggatggagttgcccagcag	14	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:24179859G>A	ENST00000318109.7	-	5	526	c.510C>T	c.(508-510)ctC>ctT	p.L170L	DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Silent_p.L170L|DERL3_ENST00000476077.1_Silent_p.L170L|DERL3_ENST00000404056.1_Intron			Q96Q80	DERL3_HUMAN	derlin 3	170					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GCAGGTCCACGAGGATGGAGT	0.652																																																	0													44	43	43					22																	24179859		2203	4300	6503	SO:0001819	synonymous_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.510C>T	22.37:g.24179859G>A			F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	pfam_DER1	p.L170	ENST00000318109.7	37	c.510	CCDS33615.1	22																																																																																			DERL3	-	pfam_DER1		0.652	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24179859	-1	no_errors	ENST00000318109	ensembl	human	known	70_37	silent	SNP	0.000	A	A	24179859	G	A	24179859	2	1	117	1	0	0	0	0	0	0	0	1	4458	1045	37	1		1	DERL3	22	24179859	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2188538	24179859	27124707	1319	18787										
CABIN1	23523	genome.wustl.edu	37	chr22	24451464	24451464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccccagccagcctcttgagtCctccatggtggtgacgccag	11	16	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:24451464C>T	ENST00000398319.2	+	9	1320	c.935C>T	c.(934-936)tCc>tTc	p.S312F	CABIN1_ENST00000263119.5_Missense_Mutation_p.S312F|CABIN1_ENST00000405822.2_Missense_Mutation_p.S262F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	312					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTCTTGAGTCCTCCATGGTG	0.582																																																	0													120	107	111					22																	24451464		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.935C>T	22.37:g.24451464C>T	ENSP00000381364:p.Ser312Phe		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S312F	ENST00000398319.2	37	c.935	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019452	0.08006	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.64260	0.49;0.13;-0.09;0.49;0.13	5.59	4.56	0.56223	.	0.539766	0.22320	N	0.061606	T	0.43722	0.1260	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.0	T	0.12066	-1.0562	10	0.33940	T	0.23	.	7.5569	0.27829	0.0:0.8431:0.0:0.1569	.	267;312;262;312	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	F	267;312;262;267;312;312	ENSP00000394209:S267F;ENSP00000263119:S312F;ENSP00000384694:S262F;ENSP00000412389:S267F;ENSP00000381364:S312F	ENSP00000263119:S312F	S	+	2	0	CABIN1	22781464	0.847000	0.29606	0.057000	0.19452	0.048000	0.14542	1.587000	0.36622	2.819000	0.97034	0.644000	0.83932	TCC	CABIN1	-	NULL		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	C	NM_012295		24451464	1	no_errors	ENST00000263119	ensembl	human	known	70_37	missense	SNP	0.010	T	T	24451464	C	T	24451464	3	4	117	1	0	0	0	0	1	0	0	0	2533	855	30	1	965	1	CABIN1	22	24451464	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	271605	24451464	26853102	1320	18788										
C22orf31	25770	genome.wustl.edu	37	chr22	29456577	29456577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtggtgggcagcacttattCttcagttgccgcctgagtac	13	10	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:29456577C>T	ENST00000216071.4	-	2	309	c.258G>A	c.(256-258)aaG>aaA	p.K86K		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	86										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						AGCACTTATTCTTCAGTTGCC	0.498																																																	0													105	97	100					22																	29456577		2203	4300	6503	SO:0001819	synonymous_variant	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.258G>A	22.37:g.29456577C>T			A0AV97	Silent	SNP	NULL	p.K86	ENST00000216071.4	37	c.258	CCDS13848.1	22																																																																																			C22orf31	-	NULL		0.498	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	C	NM_015370		29456577	-1	no_errors	ENST00000216071	ensembl	human	known	70_37	silent	SNP	0.993	T	T	29456577	C	T	29456577	2	4	117	1	0	0	0	0	0	0	0	1	2148	912	32	1		1	C22orf31	22	29456577	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5005113	29456577	21847989	1321	18789										
NEFH	4744	genome.wustl.edu	37	chr22	29879471	29879471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agctgcaggccaggaccacaGagctggaggcactgaaaagc	14	11	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:29879471G>A	ENST00000310624.6	+	2	1024	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	331	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGGACCACAGAGCTGGAGGC	0.617																																																	0													112	94	100					22																	29879471		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.991G>A	22.37:g.29879471G>A	ENSP00000311997:p.Glu331Lys		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E331K	ENST00000310624.6	37	c.991	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996338	0.74818	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.91843	-2.92	5.3	5.3	0.74995	Filament (1);	0.000000	0.49305	D	0.000144	D	0.96093	0.8727	M	0.86097	2.795	0.53688	D	0.999978	D	0.89917	1.0	D	0.72075	0.976	D	0.96285	0.9209	10	0.87932	D	0	.	14.7229	0.69320	0.0:0.1444:0.8556:0.0	.	331	P12036	NFH_HUMAN	K	331	ENSP00000311997:E331K	ENSP00000311997:E331K	E	+	1	0	NEFH	28209471	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.681000	0.84073	2.761000	0.94854	0.650000	0.86243	GAG	NEFH	-	pfam_F		0.617	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29879471	1	no_errors	ENST00000310624	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29879471	G	A	29879471	3	1	117	1	0	0	0	0	1	0	0	0	10338	943	33	1	997	1	NEFH	22	29879471	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	422894	29879471	21425095	1322	18790										
SEC14L2	23541	genome.wustl.edu	37	chr22	30805241	30805241	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggcttggcctcaagcatctCtggaagcctgctgtggaggc	15	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:30805241C>G	ENST00000312932.9	+	6	749	c.489C>G	c.(487-489)ctC>ctG	p.L163L	SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000403484.1_Silent_p.L89L|SEC14L2_ENST00000402592.3_Silent_p.L80L|SEC14L2_ENST00000405717.3_Silent_p.L163L|RP4-539M6.19_ENST00000439838.1_5'Flank	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	163	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TCAAGCATCTCTGGAAGCCTG	0.597																																																	0													61	65	64					22																	30805241		2203	4300	6503	SO:0001819	synonymous_variant	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.489C>G	22.37:g.30805241C>G			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L163	ENST00000312932.9	37	c.489	CCDS13876.1	22																																																																																			SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.597	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	C	NM_012429		30805241	1	no_errors	ENST00000312932	ensembl	human	known	70_37	silent	SNP	1.000	G	G	30805241	C	G	30805241	2	3	117	1	0	0	0	0	0	0	0	1	14012	900	32	1		1	SEC14L2	22	30805241	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	925770	30805241	20499325	1323	18791										
SYN3	8224	genome.wustl.edu	37	chr22	33327449	33327449	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtcacataggcagctaggttCaactctgagaattcagcctg	10	10	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:33327449C>G	ENST00000358763.2	-	4	629	c.387G>C	c.(385-387)ttG>ttC	p.L129F	SYN3_ENST00000332840.5_Missense_Mutation_p.L129F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	129	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGCTAGGTTCAACTCTGAGA	0.443																																																	0													96	91	92					22																	33327449		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.387G>C	22.37:g.33327449C>G	ENSP00000351614:p.Leu129Phe		B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.L129F	ENST00000358763.2	37	c.387	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899928	0.33535	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.39592	1.07;1.07	5.53	4.4	0.53042	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.102221	0.43260	D	0.000595	T	0.58308	0.2113	M	0.78049	2.395	0.43569	D	0.99589	D;D;D	0.69078	0.997;0.991;0.997	D;P;D	0.64687	0.928;0.898;0.928	T	0.61510	-0.7048	10	0.87932	D	0	.	6.2062	0.20604	0.0:0.6738:0.15:0.1762	.	129;129;129	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	F	129	ENSP00000351614:L129F;ENSP00000330219:L129F	ENSP00000330219:L129F	L	-	3	2	SYN3	31657449	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	1.824000	0.39072	1.305000	0.44909	0.563000	0.77884	TTG	SYN3	-	pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_fold,prints_Synapsin		0.443	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	C			33327449	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33327449	C	G	33327449	3	3	117	1	0	0	0	0	1	0	0	0	15472	825	29	1	1399	1	SYN3	22	33327449	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	2522208	33327449	17977117	1324	18792										
LARGE	9215	genome.wustl.edu	37	chr22	33673147	33673147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctcacaacaacatacggctCaaaatcggcctcccactcaa	4	16	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:33673147C>G	ENST00000354992.2	-	15	2543	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	LARGE_ENST00000452586.2_Missense_Mutation_p.E457Q|LARGE_ENST00000397394.2_Missense_Mutation_p.E658Q|LARGE_ENST00000337431.2_Missense_Mutation_p.E606Q|LARGE_ENST00000437602.2_Missense_Mutation_p.E609Q|LARGE_ENST00000402320.1_Missense_Mutation_p.E606Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	658					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACATACGGCTCAAAATCGGCC	0.572																																					Colon(70;397 1175 4573 19089 45288)												0													89	77	81					22																	33673147		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1972G>C	22.37:g.33673147C>G	ENSP00000347088:p.Glu658Gln		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E658Q	ENST00000354992.2	37	c.1972	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.211568	0.95069	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.84576	0.0658	10	0.87932	D	0	-29.9883	19.7664	0.96346	0.0:1.0:0.0:0.0	.	609;457;606;658	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Q	658;606;658;606;457;609	ENSP00000347088:E658Q;ENSP00000336636:E606Q;ENSP00000380549:E658Q;ENSP00000385223:E606Q;ENSP00000407917:E457Q;ENSP00000388544:E609Q	ENSP00000336636:E606Q	E	-	1	0	LARGE	32003147	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	7.380000	0.79704	2.735000	0.93741	0.655000	0.94253	GAG	LARGE	-	NULL		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		33673147	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33673147	C	G	33673147	3	3	117	1	0	0	0	0	1	0	0	0	8647	835	29	1	306	1	LARGE	22	33673147	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	345698	33673147	17631419	1325	18793										
APOL3	80833	genome.wustl.edu	37	chr22	36556828	36556828	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agacacgttctccaggctctGagatataccctggaacccaa	8	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:36556828G>C	ENST00000349314.2	-	1	149	c.112C>G	c.(112-114)Cag>Gag	p.Q38E	APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_Intron	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	38					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCCAGGCTCTGAGATATACCC	0.512																																																	0													129	106	114					22																	36556828		2203	4300	6503	SO:0001583	missense	80833			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.112C>G	22.37:g.36556828G>C	ENSP00000344577:p.Gln38Glu		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.Q38E	ENST00000349314.2	37	c.112	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.149202	0.00328	.	.	ENSG00000128284	ENST00000349314;ENST00000531095	T;T	0.60920	3.72;0.15	0.971	-1.94	0.07571	.	7739.210000	0.00166	N	0.000000	T	0.32912	0.0845	N	0.08118	0	0.09310	N	0.999998	B	0.25169	0.119	B	0.12837	0.008	T	0.07347	-1.0777	10	0.48119	T	0.1	.	0.48	0.00546	0.3911:0.2324:0.2004:0.1761	.	38	O95236	APOL3_HUMAN	E	38;2	ENSP00000344577:Q38E;ENSP00000432271:Q2E	ENSP00000344577:Q38E	Q	-	1	0	APOL3	34886774	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.958000	0.01519	-2.662000	0.00418	-2.264000	0.00278	CAG	APOL3	-	NULL		0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	G	NM_145641		36556828	-1	no_errors	ENST00000349314	ensembl	human	known	70_37	missense	SNP	0.000	C	C	36556828	G	C	36556828	3	2	117	1	0	0	0	0	1	0	0	0	807	1299	45	1	1108	1	APOL3	22	36556828	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2883681	36556828	14747738	1326	18794										
CBX7	23492	genome.wustl.edu	37	chr22	39530549	39530549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggcgggaacttcttgcgcGagagccgcaggtacttgtgg	18	9	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:39530549G>A	ENST00000216133.5	-	5	660	c.455C>T	c.(454-456)tCg>tTg	p.S152L	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701																																					GBM(46;845 904 3560 9866 23971)												0													18	21	20					22																	39530549		2198	4294	6492	SO:0001583	missense	23492				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.455C>T	22.37:g.39530549G>A	ENSP00000216133:p.Ser152Leu		Q86T17	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.S152L	ENST00000216133.5	37	c.455	CCDS13986.1	22	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822155	0.50739	.	.	ENSG00000100307	ENST00000216133	T	0.32753	1.44	4.55	4.55	0.56014	.	0.919125	0.09439	N	0.802042	T	0.40498	0.1119	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.54664	0.758	T	0.28681	-1.0036	10	0.39692	T	0.17	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	152	O95931	CBX7_HUMAN	L	152	ENSP00000216133:S152L	ENSP00000216133:S152L	S	-	2	0	CBX7	37860495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.272000	0.65559	2.493000	0.84123	0.561000	0.74099	TCG	CBX7	-	NULL		0.701	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX7	HGNC	protein_coding	OTTHUMT00000318020.1	G	NM_175709		39530549	-1	no_errors	ENST00000216133	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39530549	G	A	39530549	3	1	117	1	0	0	0	0	1	0	0	0	2728	1059	37	1	308	1	CBX7	22	39530549	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2973721	39530549	11774017	1327	18795										
RBX1	9978	genome.wustl.edu	37	chr22	41349561	41349561	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctttttgtctttgcagtgGaatgcagtagccctctgggc	11	10	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41349561G>C	ENST00000216225.8	+	2	121	c.81G>C	c.(79-81)tgG>tgC	p.W27C	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	27					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						CTTTGCAGTGGAATGCAGTAG	0.468																																																	0													200	181	187					22																	41349561		2203	4300	6503	SO:0001583	missense	9978			AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"RING-type (C3HC4) zinc fingers"	9928	protein-coding gene	gene with protein product	"regulator of cullins 1"	603814	"ring-box 1"			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.81G>C	22.37:g.41349561G>C	ENSP00000216225:p.Trp27Cys		B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	pfscan_Znf_RING	p.W27C	ENST00000216225.8	37	c.81	CCDS14009.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535367	0.85812	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93269	0.6650	9	0.87932	D	0	.	18.8188	0.92088	0.0:0.0:1.0:0.0	.	27	P62877	RBX1_HUMAN	C	27	.	ENSP00000216225:W27C	W	+	3	0	RBX1	39679507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.202000	0.95026	2.722000	0.93159	0.655000	0.94253	TGG	RBX1	-	NULL		0.468	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBX1	HGNC	protein_coding	OTTHUMT00000322149.1	G	NM_014248		41349561	1	no_errors	ENST00000216225	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41349561	G	C	41349561	3	2	117	1	0	0	0	0	1	0	0	0	13195	1183	41	1	87	1	RBX1	22	41349561	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1819012	41349561	9955005	1328	18796										
EP300	2033	genome.wustl.edu	37	chr22	41574358	41574358	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ataaccagttccagcaacccCaaggagttggctacccacca	7	15	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41574358C>T	ENST00000263253.7	+	31	7862	c.6643C>T	c.(6643-6645)Caa>Taa	p.Q2215*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2215	Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Q2215K(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGCAACCCCAAGGAGTTGG	0.552			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Missense(1)	kidney(1)											56	56	56					22																	41574358		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6643C>T	22.37:g.41574358C>T	ENSP00000263253:p.Gln2215*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q2215*	ENST00000263253.7	37	c.6643	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	52	19.960466	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	5.5	0.81552	.	0.148708	0.30464	N	0.009576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-6.2778	19.3945	0.94601	0.0:1.0:0.0:0.0	.	.	.	.	X	2215	.	ENSP00000263253:Q2215X	Q	+	1	0	EP300	39904304	0.101000	0.21875	1.000000	0.80357	0.981000	0.71138	1.591000	0.36665	2.581000	0.87130	0.655000	0.94253	CAA	EP300	-	NULL		0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41574358	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41574358	C	T	41574358	4	4	117	1	0	0	0	0	0	1	0	0	5160	595	21	4	6765	4	EP300	22	41574358	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	224797	41574358	9730208	1329	18797										
TOB2	10766	genome.wustl.edu	37	chr22	41832533	41832533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccctggccatcggccgcatCaaagaagaggctgggtgagc	15	12	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41832533C>G	ENST00000327492.3	-	2	1523	c.817G>C	c.(817-819)Gat>Cat	p.D273H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	273					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						tcggccgcatcaaagaagagg	0.622																																																	0													24	23	23					22																	41832533		2202	4300	6502	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.817G>C	22.37:g.41832533C>G	ENSP00000331305:p.Asp273His		Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.D273H	ENST00000327492.3	37	c.817	CCDS14015.1	22	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434115	0.43224	.	.	ENSG00000183864	ENST00000327492	T	0.51817	0.69	6.17	6.17	0.99709	.	0.055103	0.64402	D	0.000001	T	0.45094	0.1325	L	0.46157	1.445	0.80722	D	1	P	0.41265	0.744	B	0.39027	0.288	T	0.19811	-1.0294	10	0.15499	T	0.54	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	273	Q14106	TOB2_HUMAN	H	273	ENSP00000331305:D273H	ENSP00000331305:D273H	D	-	1	0	TOB2	40162479	1.000000	0.71417	0.777000	0.31699	0.106000	0.19336	7.058000	0.76676	2.941000	0.99782	0.655000	0.94253	GAT	TOB2	-	NULL		0.622	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	C	NM_016272		41832533	-1	no_errors	ENST00000327492	ensembl	human	known	70_37	missense	SNP	0.999	G	G	41832533	C	G	41832533	3	3	117	1	0	0	0	0	1	0	0	0	16378	826	29	1	221	1	TOB2	22	41832533	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	258175	41832533	9472033	1330	18798										
TOB2	10766	genome.wustl.edu	37	chr22	41833211	41833211	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agagcctttcagtggcttctCagggtaccagtggccttcat	11	11	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41833211C>T	ENST00000327492.3	-	2	845	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	47					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGTGGCTTCTCAGGGTACCAG	0.597																																																	0													31	31	31					22																	41833211		2203	4300	6503	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.139G>A	22.37:g.41833211C>T	ENSP00000331305:p.Glu47Lys		Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.E47K	ENST00000327492.3	37	c.139	CCDS14015.1	22	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063543	0.55432	.	.	ENSG00000183864	ENST00000327492;ENST00000434408	T	0.50813	0.73	5.82	4.77	0.60923	Anti-proliferative protein (4);	0.407102	0.26590	N	0.023522	T	0.57242	0.2040	M	0.87456	2.885	0.58432	D	0.999999	B	0.16396	0.017	B	0.16722	0.016	T	0.61272	-0.7096	10	0.72032	D	0.01	.	16.6961	0.85336	0.0:0.8704:0.1296:0.0	.	47	Q14106	TOB2_HUMAN	K	47	ENSP00000331305:E47K	ENSP00000331305:E47K	E	-	1	0	TOB2	40163157	1.000000	0.71417	0.148000	0.22405	0.853000	0.48598	5.708000	0.68377	1.411000	0.46957	0.655000	0.94253	GAG	TOB2	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn		0.597	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	C	NM_016272		41833211	-1	no_errors	ENST00000327492	ensembl	human	known	70_37	missense	SNP	0.962	T	T	41833211	C	T	41833211	3	4	117	1	0	0	0	0	1	0	0	0	16378	835	29	1	899	1	TOB2	22	41833211	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	678	41833211	9471355	1331	18799										
SEPT3	55964	genome.wustl.edu	37	chr22	42385647	42385647	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tccctgtcattgctaaggctGacaccatgaccctggaggag	11	12	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:42385647G>A	ENST00000396426.3	+	6	883	c.628G>A	c.(628-630)Gac>Aac	p.D210N	SEPT3_ENST00000396425.3_Missense_Mutation_p.D210N|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Missense_Mutation_p.D146N|SEPT3_ENST00000406029.1_Missense_Mutation_p.D146N	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	210	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						TGCTAAGGCTGACACCATGAC	0.517																																																	0													164	131	143					22																	42385647		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.628G>A	22.37:g.42385647G>A	ENSP00000379704:p.Asp210Asn		B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.D210N	ENST00000396426.3	37	c.628	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	36	5.661517	0.96734	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.93135	0.7814	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.996;0.997	D;D;D;D	0.97110	0.994;1.0;0.99;0.996	D	0.94894	0.8050	9	.	.	.	.	19.1319	0.93412	0.0:0.0:1.0:0.0	.	146;146;210;210	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	N	210;146;210;146	ENSP00000379704:D210N;ENSP00000383956:D146N;ENSP00000379703:D210N;ENSP00000291236:D146N	.	D	+	1	0	SEPT3	40715593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.830000	0.99415	2.605000	0.88082	0.655000	0.94253	GAC	SEPT3	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.517	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	G	NM_145734		42385647	1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42385647	G	A	42385647	3	1	117	1	0	0	0	0	1	0	0	0	14095	1290	45	1	650	1	SEPT3	22	42385647	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	552436	42385647	8918919	1332	18800										
FAM109B	150368	genome.wustl.edu	37	chr22	42473571	42473571	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgcctttgccatctgctttGatgcccctggagtgcgccca	10	14	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:42473571G>C	ENST00000321753.3	+	3	461	c.274G>C	c.(274-276)Gat>Cat	p.D92H	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CATCTGCTTTGATGCCCCTGG	0.682																																																	0													79	83	82					22																	42473571		2203	4300	6503	SO:0001583	missense	150368			BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"Pleckstrin homology (PH) domain containing"	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.274G>C	22.37:g.42473571G>C	ENSP00000312753:p.Asp92His		Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D92H	ENST00000321753.3	37	c.274	CCDS33655.1	22	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617770	0.46736	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.75477	-0.94;-0.94	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.398318	0.26210	N	0.025684	T	0.79347	0.4430	N	0.25426	0.745	0.51767	D	0.999935	D	0.89917	1.0	D	0.72338	0.977	T	0.81204	-0.1039	10	0.51188	T	0.08	-6.1007	18.1157	0.89553	0.0:0.0:1.0:0.0	.	92	Q6ICB4	SESQ2_HUMAN	H	92	ENSP00000312753:D92H;ENSP00000396170:D92H	ENSP00000312753:D92H	D	+	1	0	FAM109B	40803517	0.993000	0.37304	0.966000	0.40874	0.475000	0.33008	2.445000	0.44899	2.251000	0.74343	0.591000	0.81541	GAT	FAM109B	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.682	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM109B	HGNC	protein_coding	OTTHUMT00000322084.1	G	NM_001002034		42473571	1	no_errors	ENST00000321753	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42473571	G	C	42473571	3	2	117	1	0	0	0	0	1	0	0	0	5410	1290	45	1	276	1	FAM109B	22	42473571	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	87924	42473571	8830995	1333	18801										
TTLL12	23170	genome.wustl.edu	37	chr22	43575746	43575746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctctccgtaggcaaagtctCgggtcacctcctctgtgcca	9	15	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:43575746C>T	ENST00000216129.6	-	5	782	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	240					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGCAAAGTCTCGGGTCACCTC	0.652																																																	0													75	70	71					22																	43575746		2203	4300	6503	SO:0001583	missense	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.719G>A	22.37:g.43575746C>T	ENSP00000216129:p.Arg240Gln		Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R240Q	ENST00000216129.6	37	c.719	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.540005	0.96474	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.55413	0.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.88775	2.98	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63703	0.917;0.917	T	0.81324	-0.0984	10	0.72032	D	0.01	-38.4613	19.5034	0.95105	0.0:1.0:0.0:0.0	.	240;240	B1AH89;Q14166	.;TTL12_HUMAN	Q	240	ENSP00000216129:R240Q	ENSP00000216129:R240Q	R	-	2	0	TTLL12	41905690	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.156000	0.77453	2.593000	0.87608	0.655000	0.94253	CGA	TTLL12	-	NULL		0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	C	NM_015140		43575746	-1	no_errors	ENST00000216129	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43575746	C	T	43575746	3	4	117	1	0	0	0	0	1	0	0	0	16756	884	31	1	1255	1	TTLL12	22	43575746	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1102175	43575746	7728820	1334	18802										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50656698	50656698	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acggtggccaacctggccctGaactcgcaccaggtgacgtg	13	14	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:50656698G>C	ENST00000248846.5	-	23	5192	c.5088C>G	c.(5086-5088)ttC>ttG	p.F1696L	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1696					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACCTGGCCCTGAACTCGCACC	0.622																																																	0													47	41	43					22																	50656698		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5088C>G	22.37:g.50656698G>C	ENSP00000248846:p.Phe1696Leu		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.F1696L	ENST00000248846.5	37	c.5088	CCDS14087.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.025792|3.025792	0.54683|0.54683	.|.	.|.	ENSG00000128159|ENSG00000128159	ENST00000248846|ENST00000425018	T|T	0.05580|0.21932	3.42|1.98	4.92|4.92	3.89|3.89	0.44902|0.44902	.|.	0.199796|.	0.53938|.	D|.	0.000046|.	T|T	0.28896|0.28896	0.0717|0.0717	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.87578|.	0.998;0.981|.	T|T	0.01666|0.01666	-1.1300|-1.1300	10|7	0.32370|0.20046	T|T	0.25|0.44	.|.	9.7182|9.7182	0.40286|0.40286	0.19:0.0:0.81:0.0|0.19:0.0:0.81:0.0	.|.	1688;1696|.	B2RWN4;Q96RT7|.	.;GCP6_HUMAN|.	L|E	1696|372	ENSP00000248846:F1696L|ENSP00000405979:Q372E	ENSP00000248846:F1696L|ENSP00000405979:Q372E	F|Q	-|-	3|1	2|0	TUBGCP6|TUBGCP6	48998825|48998825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.969000|4.969000	0.63735|0.63735	2.269000|2.269000	0.75478|0.75478	0.467000|0.467000	0.42956|0.42956	TTC|CAG	TUBGCP6	-	pfam_Spc97_Spc98		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50656698	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50656698	G	C	50656698	3	2	117	1	0	0	0	0	1	0	0	0	16801	1281	45	1	383	1	TUBGCP6	22	50656698	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7080952	50656698	647868	1335	18803										
SHANK3	85358	genome.wustl.edu	37	chr22	51121780	51121780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgcaacaggagagctgtgctCgtgtcctgctcttccgtgga	13	12	1	1	rs376862893		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:51121780C>T	ENST00000414786.2	+	8	1125	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	SHANK3_ENST00000445220.2_Missense_Mutation_p.R300C|SHANK3_ENST00000262795.3_Missense_Mutation_p.R300C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	300			R -> C (found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization; may disrupt transsynaptic signaling and spine maturation). {ECO:0000269|PubMed:17173049}.		adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAGCTGTGCTCGTGTCCTGCT	0.582																																																	0								C	CYS/ARG	0,4248		0,0,2124	58	68	65		898	4.8	0.9	22		65	1,8437		0,1,4218	no	missense	SHANK3	NM_001080420.1	180	0,1,6342	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	300/1748	51121780	1,12685	2124	4219	6343	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.898C>T	22.37:g.51121780C>T	ENSP00000464552:p.Arg300Cys		D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R300C	ENST00000414786.2	37	c.898		22	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852945	0.71719	0.0	1.19E-4	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.66815	-0.23;-0.23	4.8	4.8	0.61643	.	.	.	.	.	T	0.78848	0.4348	L	0.60067	1.865	0.37726	D	0.925081	D	0.89917	1.0	D	0.91635	0.999	T	0.82857	-0.0250	9	0.87932	D	0	.	15.4269	0.75059	0.0:1.0:0.0:0.0	.	300	F2Z3L0	.	C	300	ENSP00000442518:R300C;ENSP00000446078:R300C	ENSP00000442518:R300C	R	+	1	0	SHANK3	49468646	0.973000	0.33851	0.886000	0.34754	0.996000	0.88848	2.362000	0.44169	2.495000	0.84180	0.645000	0.84053	CGT	SHANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	C	NM_001080420		51121780	1	no_errors	ENST00000262795	ensembl	human	known	70_37	missense	SNP	0.945	T	T	51121780	C	T	51121780	3	4	117	1	0	0	0	0	1	0	0	0	14296	884	31	1	928	1	SHANK3	22	51121780	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	465082	51121780	182786	1336	18804										
HDHD1A	8226	genome.wustl.edu	37	chrX	6995411	6995411	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggcggcttgtcttcatatcGaacgacgcggaccccgagct	12	13	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:6995411G>A	ENST00000381077.5	-	3	436	c.360C>T	c.(358-360)ttC>ttT	p.F120F	HDHD1_ENST00000412827.2_Silent_p.F77F|HDHD1_ENST00000540122.1_Silent_p.F120F|HDHD1_ENST00000424830.2_Silent_p.F143F	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	120					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TCTTCATATCGAACGACGCGG	0.587																																																	0													42	44	43					X																	6995411		2056	4175	6231	SO:0001819	synonymous_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.360C>T	X.37:g.6995411G>A			B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.F143	ENST00000381077.5	37	c.429	CCDS48075.1	X																																																																																			HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3		0.587	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		6995411	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	silent	SNP	0.623	A	A	6995411	G	A	6995411	2	1	117	1	0	0	0	0	0	0	0	1	7042	1049	37	1		1	HDHD1A	23	6995411	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09		6995411	148275149	1337	18805										
MID1	4281	genome.wustl.edu	37	chrX	10535234	10535234	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcctggtcacaaaactggcaGaggaccttctcggcggaggt	13	11	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:10535234G>C	ENST00000317552.4	-	2	754	c.354C>G	c.(352-354)ctC>ctG	p.L118L	MID1_ENST00000380785.1_Silent_p.L118L|MID1_ENST00000380780.1_Silent_p.L118L|MID1_ENST00000380779.1_Silent_p.L118L|MID1_ENST00000380787.1_Silent_p.L118L|MID1_ENST00000453318.2_Silent_p.L118L|MID1_ENST00000380782.2_Silent_p.L118L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	118					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAAACTGGCAGAGGACCTTCT	0.592																																																	0													91	69	77					X																	10535234		2203	4300	6503	SO:0001819	synonymous_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.354C>G	X.37:g.10535234G>C			B2RCG2|O75361|Q9BZX5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L118	ENST00000317552.4	37	c.354	CCDS14138.1	X																																																																																			MID1	-	smart_Znf_B-box		0.592	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	G			10535234	-1	no_errors	ENST00000317552	ensembl	human	known	70_37	silent	SNP	1.000	C	C	10535234	G	C	10535234	2	2	117	1	0	0	0	0	0	0	0	1	9599	929	33	1		1	MID1	23	10535234	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3539823	10535234	144735326	1338	18806										
ARHGAP6	395	genome.wustl.edu	37	chrX	11156998	11156998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cgggctcagaccagcgtctcGggcagggcatcggggttgtc	17	12	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:11156998G>A	ENST00000337414.4	-	13	3782	c.2910C>T	c.(2908-2910)ccC>ccT	p.P970P	ARHGAP6_ENST00000380736.1_Silent_p.P767P|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Silent_p.P767P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	970					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAGCGTCTCGGGCAGGGCAT	0.731																																																	0													6	6	6					X																	11156998		2109	4138	6247	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2910C>T	X.37:g.11156998G>A			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P970	ENST00000337414.4	37	c.2910	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.731	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11156998	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	silent	SNP	0.072	A	A	11156998	G	A	11156998	2	1	117	1	0	0	0	0	0	0	0	1	887	1103	39	2		2	ARHGAP6	23	11156998	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	621764	11156998	144113562	1339	18807										
TLR8	51311	genome.wustl.edu	37	chrX	12937373	12937373	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgacagaactagacctgtctGataatttcatcacacacata	5	10	3	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:12937373G>C	ENST00000218032.6	+	2	301	c.214G>C	c.(214-216)Gat>Cat	p.D72H	TLR8_ENST00000311912.5_Missense_Mutation_p.D90H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	72					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGACCTGTCTGATAATTTCAT	0.413																																																	0													105	98	100					X																	12937373		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.214G>C	X.37:g.12937373G>C	ENSP00000218032:p.Asp72His		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D72H	ENST00000218032.6	37	c.214	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236536	0.01505	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.41400	1.0;1.0	5.31	0.845	0.18950	.	1.081360	0.07291	N	0.872516	T	0.23370	0.0565	N	0.16233	0.39	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.24701	0.055;0.055	T	0.28364	-1.0046	10	0.24483	T	0.36	.	1.4165	0.02302	0.1944:0.1125:0.3109:0.3822	.	72;90	Q9NR97;D1CS70	TLR8_HUMAN;.	H	72;90	ENSP00000218032:D72H;ENSP00000312082:D90H	ENSP00000218032:D72H	D	+	1	0	TLR8	12847294	0.000000	0.05858	0.002000	0.10522	0.192000	0.23643	0.112000	0.15479	0.096000	0.17463	-0.365000	0.07479	GAT	TLR8	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.413	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	G	NM_016610		12937373	1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	0.002	C	C	12937373	G	C	12937373	3	2	117	1	0	0	0	0	1	0	0	0	15987	1290	45	1	220	1	TLR8	23	12937373	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1780375	12937373	142333187	1340	18808										
PTCHD1	139411	genome.wustl.edu	37	chrX	23398156	23398156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tttccagaagaccagccgcgTatcagaacgttacctggtca	9	12	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:23398156T>A	ENST00000379361.4	+	2	1660	c.800T>A	c.(799-801)gTa>gAa	p.V267E		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	267					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.V162E(1)|p.V267E(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACCAGCCGCGTATCAGAACGT	0.522																																																	2	Substitution - Missense(2)	lung(2)											177	152	161					X																	23398156		2203	4300	6503	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.800T>A	X.37:g.23398156T>A	ENSP00000368666:p.Val267Glu		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.V267E	ENST00000379361.4	37	c.800	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101984	0.76983	.	.	ENSG00000165186	ENST00000379361	D	0.84589	-1.87	4.86	4.86	0.63082	.	0.064498	0.64402	D	0.000010	D	0.83686	0.5308	L	0.34521	1.04	0.46701	D	0.999165	D;B	0.56968	0.978;0.002	P;B	0.58266	0.836;0.005	T	0.79699	-0.1694	10	0.06625	T	0.88	.	13.8052	0.63225	0.0:0.0:0.0:1.0	.	162;267	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	E	267	ENSP00000368666:V267E	ENSP00000368666:V267E	V	+	2	0	PTCHD1	23308077	1.000000	0.71417	0.660000	0.29694	0.949000	0.60115	7.482000	0.81143	1.903000	0.55091	0.486000	0.48141	GTA	PTCHD1	-	pfam_Patched		0.522	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	T	NM_173495		23398156	1	no_errors	ENST00000379361	ensembl	human	known	70_37	missense	SNP	0.996	A	A	23398156	T	A	23398156	3	1	117	1	0	0	0	0	1	0	0	0	12759	1638	57	5	806	5	PTCHD1	23	23398156	Missense_Mutation	SNP	T	TCGA-EK-A3GK-01A-11D-A20U-09	10460783	23398156	131872404	1341	18809										
MAGEB3	4114	genome.wustl.edu	37	chrX	30254171	30254171	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aagtatccttttcatcccctCttattttgggggctactatc	6	11	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:30254171C>G	ENST00000361644.2	+	5	867	c.130C>G	c.(130-132)Ctt>Gtt	p.L44V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	44										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TTCATCCCCTCTTATTTTGGG	0.493																																																	0													47	39	41					X																	30254171		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.130C>G	X.37:g.30254171C>G	ENSP00000355198:p.Leu44Val		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L44V	ENST00000361644.2	37	c.130	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.899836	0.02472	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04317	3.65;3.65	3.98	-2.46	0.06461	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.01765	0.0056	N	0.02865	-0.47	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.48670	-0.9015	9	0.13470	T	0.59	.	5.3307	0.15930	0.0:0.2586:0.444:0.2975	.	44	O15480	MAGB3_HUMAN	V	44	ENSP00000368271:L44V;ENSP00000355198:L44V	ENSP00000355198:L44V	L	+	1	0	MAGEB3	30164092	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.242000	0.18087	-0.788000	0.04504	-0.503000	0.04515	CTT	MAGEB3	-	pfam_Melanoma_ass_antigen_N		0.493	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	C	NM_002365		30254171	1	no_errors	ENST00000361644	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30254171	C	G	30254171	3	3	117	1	0	0	0	0	1	0	0	0	9200	913	32	1	132	1	MAGEB3	23	30254171	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6856015	30254171	125016389	1342	18810										
MAGEB4	4115	genome.wustl.edu	37	chrX	30260591	30260591	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gattctctaaccaggaagacGaagatgttagtgcagttcct	10	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:30260591G>A	ENST00000378982.2	+	1	535	c.339G>A	c.(337-339)acG>acA	p.T113T	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	113	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGGAAGACGAAGATGTTAG	0.443																																																	0													54	40	44					X																	30260591		2202	4300	6502	SO:0001819	synonymous_variant	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.339G>A	X.37:g.30260591G>A			B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T113	ENST00000378982.2	37	c.339	CCDS14221.1	X																																																																																			MAGEB4	-	pfscan_MAGE		0.443	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	G	NM_002367		30260591	1	no_errors	ENST00000378982	ensembl	human	known	70_37	silent	SNP	0.000	A	A	30260591	G	A	30260591	2	1	117	1	0	0	0	0	0	0	0	1	9201	1045	37	1		1	MAGEB4	23	30260591	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6420	30260591	125009969	1343	18811										
FAM47C	442444	genome.wustl.edu	37	chrX	37027435	37027435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccaagtcacgcgtatctcatCtccgcccagagccttctgag	8	16	4	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:37027435C>T	ENST00000358047.3	+	1	1004	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	318										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTATCTCATCTCCGCCCAGA	0.602																																																	0													92	81	84					X																	37027435		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.952C>T	X.37:g.37027435C>T	ENSP00000367913:p.Leu318Phe		Q6ZU46	Missense_Mutation	SNP	NULL	p.L318F	ENST00000358047.3	37	c.952	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	9.187	1.025015	0.19433	.	.	ENSG00000198173	ENST00000358047	T	0.15718	2.4	0.915	0.915	0.19366	.	.	.	.	.	T	0.29190	0.0726	L	0.58101	1.795	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.09618	-1.0666	9	0.52906	T	0.07	.	3.852	0.08959	0.0:0.6713:0.0:0.3286	.	318	Q5HY64	FA47C_HUMAN	F	318	ENSP00000367913:L318F	ENSP00000367913:L318F	L	+	1	0	FAM47C	36937356	0.000000	0.05858	0.011000	0.14972	0.011000	0.07611	-1.018000	0.03626	0.173000	0.19788	0.176000	0.17051	CTC	FAM47C	-	NULL		0.602	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		37027435	1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.070	T	T	37027435	C	T	37027435	3	4	117	1	0	0	0	0	1	0	0	0	5589	913	32	1	954	1	FAM47C	23	37027435	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6766844	37027435	118243125	1344	18812										
RPGR	6103	genome.wustl.edu	37	chrX	38135962	38135962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cttcttgctttccacattttCagcattaatttcctcatcca	2	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:38135962C>T	ENST00000339363.3	-	15	2751	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	RPGR_ENST00000309513.3_Missense_Mutation_p.E595K|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Missense_Mutation_p.E657K|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	862	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCCACATTTTCAGCATTAATT	0.358																																																	0													226	183	197					X																	38135962		2201	4300	6501	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2584G>A	X.37:g.38135962C>T	ENSP00000343671:p.Glu862Lys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E862K	ENST00000339363.3	37	c.2584		X	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199157	0.22121	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842	T;T;T	0.16897	2.31;3.71;3.71	2.72	1.77	0.24775	.	.	.	.	.	T	0.14743	0.0356	L	0.34521	1.04	0.09310	N	1	P	0.40578	0.722	P	0.44673	0.457	T	0.20638	-1.0269	9	0.23891	T	0.37	.	7.1471	0.25589	0.0:0.7087:0.2913:0.0	.	657	Q92834-2	.	K	862;595;657	ENSP00000343671:E862K;ENSP00000308783:E595K;ENSP00000322219:E657K	ENSP00000308783:E595K	E	-	1	0	RPGR	38020906	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.378000	0.20569	0.297000	0.22615	0.596000	0.82720	GAA	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38135962	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	missense	SNP	0.001	T	T	38135962	C	T	38135962	3	4	117	1	0	0	0	0	1	0	0	0	13578	835	29	1	494	1	RPGR	23	38135962	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1108527	38135962	117134598	1345	18813										
BCOR	54880	genome.wustl.edu	37	chrX	39933798	39933798	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggggaggccgaaggtgtcgaGagcctcatgggtgatgccaa	18	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:39933798G>A	ENST00000378444.4	-	4	1029	c.801C>T	c.(799-801)ctC>ctT	p.L267L	BCOR_ENST00000342274.4_Silent_p.L267L|BCOR_ENST00000397354.3_Silent_p.L267L|BCOR_ENST00000378455.4_Silent_p.L267L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	267					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AAGGTGTCGAGAGCCTCATGG	0.602			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													41	27	32					X																	39933798		2201	4300	6501	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.801C>T	X.37:g.39933798G>A			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L267	ENST00000378444.4	37	c.801	CCDS48093.1	X																																																																																			BCOR	-	NULL		0.602	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39933798	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	silent	SNP	0.996	A	A	39933798	G	A	39933798	2	1	117	1	0	0	0	0	0	0	0	1	1387	929	33	1		1	BCOR	23	39933798	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1797836	39933798	115336762	1346	18814										
KDM6A	7403	genome.wustl.edu	37	chrX	44928921	44928921	+	Missense_Mutation	SNP	C	C	A													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcatctccaggcagctggctCtggtattcagaatcagaacg							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44928921C>A	ENST00000377967.4	+	17	2062	c.2021C>A	c.(2020-2022)tCt>tAt	p.S674Y	KDM6A_ENST00000536777.1_Missense_Mutation_p.S629Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.S681Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.S595Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	674	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCTGGCTCTGGTATTCAG	0.542			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											62	50	54					X																	44928921		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2021C>A	X.37:g.44928921C>A	ENSP00000367203:p.Ser674Tyr		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S681Y	ENST00000377967.4	37	c.2042	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808344	0.70797	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.08	5.08	0.68730	.	0.148232	0.64402	D	0.000015	T	0.42426	0.1202	N	0.08118	0	0.46185	D	0.998912	B;P;P;P;B;P	0.40875	0.145;0.731;0.659;0.716;0.412;0.716	B;B;P;P;B;P	0.49192	0.085;0.241;0.5;0.498;0.188;0.602	T	0.54510	-0.8283	10	0.87932	D	0	-0.2919	17.9308	0.88996	0.0:1.0:0.0:0.0	.	313;681;629;726;640;674	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	Y	371;674;629;681;595	ENSP00000367203:S674Y;ENSP00000437405:S629Y;ENSP00000372355:S681Y;ENSP00000443078:S595Y	ENSP00000334340:S371Y	S	+	2	0	KDM6A	44813865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.574000	0.46016	2.255000	0.74692	0.600000	0.82982	TCT	KDM6A	-	NULL		0.542	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44928921	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44928921	C	A	44928921	3	1	117	1	0	0	0	0	1	0	0	0	8157	913	32	3	2087	3	KDM6A	23	44928921	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4995123	44928921	110341639	1347	18815	110	2	10	86		7	5	442	N	C	6.328385e-09
KDM6A	7403	genome.wustl.edu	37	chrX	44928929	44928929	+	Nonsense_Mutation	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggcagctggctctggtattCagaatcagaacggacatccc							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44928929C>T	ENST00000377967.4	+	17	2070	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q632*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q684*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q598*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	677	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Q677*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCTGGTATTCAGAATCAGAA	0.537			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	7	Whole gene deletion(6)|Substitution - Nonsense(1)	oesophagus(2)|breast(2)|pancreas(2)|lung(1)											66	53	57					X																	44928929		2203	4300	6503	SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2029C>T	X.37:g.44928929C>T	ENSP00000367203:p.Gln677*		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q684*	ENST00000377967.4	37	c.2050	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.707603|5.707603	0.96821|0.96821	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.08|5.08	4.2|4.2	0.49525|0.49525	.|.	0.288263|.	0.39615|.	N|.	0.001308|.	.|T	.|0.64527	.|0.2606	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70400	.|-0.4882	.|3	0.16896|.	T|.	0.51|.	-0.6906|-0.6906	14.2065|14.2065	0.65737|0.65737	0.1506:0.8494:0.0:0.0|0.1506:0.8494:0.0:0.0	.|.	.|.	.|.	.|.	X|L	374;677;632;684;598|274;319	.|.	ENSP00000334340:Q374X|.	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44813873|44813873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.175000|7.175000	0.77632|0.77632	1.006000|1.006000	0.39211|0.39211	0.600000|0.600000	0.82982|0.82982	CAG|TCA	KDM6A	-	NULL		0.537	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44928929	1	no_errors	ENST00000382899	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	44928929	C	T	44928929	4	4	117	1	0	0	0	0	0	1	0	0	8157	827	29	1	2095	1	KDM6A	23	44928929	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	8	44928929	110341631	1348	18816	110	2	10	86		7	5	442	N	C	6.328385e-09
KDM6A	7403	genome.wustl.edu	37	chrX	44929242	44929242	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcagacaatcctcagctctCtgccttgttgatgggaaaag	9	10	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929242C>A	ENST00000377967.4	+	17	2383	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y	KDM6A_ENST00000536777.1_Missense_Mutation_p.S736Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.S788Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.S702Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	781	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTCAGCTCTCTGCCTTGTTG	0.443			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											152	110	124					X																	44929242		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2342C>A	X.37:g.44929242C>A	ENSP00000367203:p.Ser781Tyr		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S788Y	ENST00000377967.4	37	c.2363	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491876	0.64074	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.998;1.0;1.0;0.996;1.0	D;D;D;D;D;D	0.91635	0.979;0.992;0.999;0.998;0.982;0.998	D	0.94144	0.7399	10	0.87932	D	0	-7.4302	17.9308	0.88996	0.0:1.0:0.0:0.0	.	420;788;736;833;747;781	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	Y	478;781;736;788;702	ENSP00000367203:S781Y;ENSP00000437405:S736Y;ENSP00000372355:S788Y;ENSP00000443078:S702Y	ENSP00000334340:S478Y	S	+	2	0	KDM6A	44814186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.255000	0.74692	0.600000	0.82982	TCT	KDM6A	-	NULL		0.443	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929242	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44929242	C	A	44929242	3	1	117	1	0	0	0	0	1	0	0	0	8157	913	32	3	2408	3	KDM6A	23	44929242	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	313	44929242	110341318	1349	18817			10	86		7	5	442	N	C	6.328385e-09
KDM6A	7403	genome.wustl.edu	37	chrX	44929322	44929322	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ataacatccacccagctgttCatacaaagactgataactct	4	12	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929322C>T	ENST00000377967.4	+	17	2463	c.2422C>T	c.(2422-2424)Cat>Tat	p.H808Y	KDM6A_ENST00000536777.1_Missense_Mutation_p.H763Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.H815Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.H729Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	808	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCCAGCTGTTCATACAAAGAC	0.443			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											184	130	148					X																	44929322		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2422C>T	X.37:g.44929322C>T	ENSP00000367203:p.His808Tyr		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H815Y	ENST00000377967.4	37	c.2443	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.331660|3.331660	0.60853|0.60853	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.090702|.	0.85682|.	D|.	0.000000|.	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P;P;P;P|.	0.53745|.	0.818;0.962;0.81;0.712;0.936;0.712|.	B;D;P;B;P;B|.	0.66716|.	0.255;0.946;0.514;0.315;0.885;0.315|.	T|T	0.72424|0.72424	-0.4298|-0.4298	10|5	0.66056|.	D|.	0.02|.	-10.5723|-10.5723	17.9308|17.9308	0.88996|0.88996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	447;815;763;860;774;808|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	Y|L	505;808;763;815;729|405;450	ENSP00000367203:H808Y;ENSP00000437405:H763Y;ENSP00000372355:H815Y;ENSP00000443078:H729Y|.	ENSP00000334340:H505Y|.	H|S	+|+	1|2	0|0	KDM6A|KDM6A	44814266|44814266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.899000|2.899000	0.48679|0.48679	2.255000|2.255000	0.74692|0.74692	0.600000|0.600000	0.82982|0.82982	CAT|TCA	KDM6A	-	NULL		0.443	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929322	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44929322	C	T	44929322	3	4	117	1	0	0	0	0	1	0	0	0	8157	826	29	1	2488	1	KDM6A	23	44929322	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	80	44929322	110341238	1350	18818			10	86		7	5	442	N	C	6.328385e-09
KDM6A	7403	genome.wustl.edu	37	chrX	44929341	44929341	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcatacaaagactgataactCtgttgcctcttcaccatctt	4	12	5	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929341C>T	ENST00000377967.4	+	17	2482	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	KDM6A_ENST00000536777.1_Missense_Mutation_p.S769F|KDM6A_ENST00000382899.4_Missense_Mutation_p.S821F|KDM6A_ENST00000543216.1_Missense_Mutation_p.S735F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	814	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACTGATAACTCTGTTGCCTCT	0.448			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											191	136	155					X																	44929341		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2441C>T	X.37:g.44929341C>T	ENSP00000367203:p.Ser814Phe		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S821F	ENST00000377967.4	37	c.2462	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884173	0.51908	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.08	4.22	0.49857	.	0.209202	0.51477	N	0.000100	D	0.89238	0.6658	M	0.68952	2.095	0.58432	D	0.999992	B;D;D;D;D;D	0.71674	0.002;0.998;0.987;0.978;0.996;0.996	B;D;P;P;D;P	0.79108	0.002;0.992;0.894;0.836;0.932;0.905	D	0.89767	0.3951	10	0.87932	D	0	-0.1518	12.9144	0.58197	0.0:0.9189:0.0:0.0811	.	453;821;769;866;780;814	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	F	511;814;769;821;735	ENSP00000367203:S814F;ENSP00000437405:S769F;ENSP00000372355:S821F;ENSP00000443078:S735F	ENSP00000334340:S511F	S	+	2	0	KDM6A	44814285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.696000	0.68287	1.050000	0.40346	0.600000	0.82982	TCT	KDM6A	-	NULL		0.448	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929341	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44929341	C	T	44929341	3	4	117	1	0	0	0	0	1	0	0	0	8157	913	32	1	2507	1	KDM6A	23	44929341	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	19	44929341	110341219	1351	18819			10	86		7	5	442	N	C	6.328385e-09
KDM6A	7403	genome.wustl.edu	37	chrX	44929353	44929353	+	Missense_Mutation	SNP	C	C	T													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgataactctgttgcctcttCaccatcttcagccatttcaa							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929353C>T	ENST00000377967.4	+	17	2494	c.2453C>T	c.(2452-2454)tCa>tTa	p.S818L	KDM6A_ENST00000536777.1_Missense_Mutation_p.S773L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S825L|KDM6A_ENST00000543216.1_Missense_Mutation_p.S739L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	818	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTTGCCTCTTCACCATCTTCA	0.453			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											186	135	152					X																	44929353		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2453C>T	X.37:g.44929353C>T	ENSP00000367203:p.Ser818Leu		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S825L	ENST00000377967.4	37	c.2474	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949539	0.53186	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.08	5.08	0.68730	.	0.186845	0.48767	D	0.000171	D	0.89914	0.6853	L	0.45581	1.43	0.80722	D	1	P;D;B;B;D;B	0.63046	0.816;0.992;0.033;0.02;0.987;0.02	B;D;B;B;D;B	0.71656	0.212;0.974;0.036;0.011;0.942;0.011	D	0.90778	0.4677	10	0.62326	D	0.03	-3.9997	17.9308	0.88996	0.0:1.0:0.0:0.0	.	457;825;773;870;784;818	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	L	515;818;773;825;739	ENSP00000367203:S818L;ENSP00000437405:S773L;ENSP00000372355:S825L;ENSP00000443078:S739L	ENSP00000334340:S515L	S	+	2	0	KDM6A	44814297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.255000	0.74692	0.600000	0.82982	TCA	KDM6A	-	NULL		0.453	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929353	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44929353	C	T	44929353	3	4	117	1	0	0	0	0	1	0	0	0	8157	838	29	1	2519	1	KDM6A	23	44929353	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	12	44929353	110341207	1352	18820	111	2	10	86		7	5	442	N	C	6.328385e-09
KDM6A	7403	genome.wustl.edu	37	chrX	44929362	44929362	+	Nonsense_Mutation	SNP	C	C	G													0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgttgcctcttcaccatcttCagccatttcaacagcaacac							TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929362C>G	ENST00000377967.4	+	17	2503	c.2462C>G	c.(2461-2463)tCa>tGa	p.S821*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S776*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S828*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S742*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	821	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCACCATCTTCAGCCATTTCA	0.453			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											182	134	151					X																	44929362		2203	4300	6503	SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2462C>G	X.37:g.44929362C>G	ENSP00000367203:p.Ser821*		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S828*	ENST00000377967.4	37	c.2483	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.456237|6.456237	0.97581|0.97581	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.73745|.	0.3626|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73883|.	-0.3842|.	3|.	.|0.39692	.|T	.|0.17	-0.0986|-0.0986	17.9308|17.9308	0.88996|0.88996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	418;463|518;821;776;828;742	.|.	.|ENSP00000334340:S518X	F|S	+|+	3|2	2|0	KDM6A|KDM6A	44814306|44814306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.291000|7.291000	0.78721|0.78721	2.255000|2.255000	0.74692|0.74692	0.600000|0.600000	0.82982|0.82982	TTC|TCA	KDM6A	-	NULL		0.453	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929362	1	no_errors	ENST00000382899	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	44929362	C	G	44929362	4	3	117	1	0	0	0	0	0	1	0	0	8157	838	29	1	2528	1	KDM6A	23	44929362	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	9	44929362	110341198	1353	18821	111	2	10	86		7	5	442	N	C	6.328385e-09
RBM10	8241	genome.wustl.edu	37	chrX	47038524	47038524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggcgtccagaacttcaaacGccgagagaagtgcttcaaat	10	10	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:47038524G>A	ENST00000377604.3	+	8	1428	c.686G>A	c.(685-687)cGc>cAc	p.R229H	RBM10_ENST00000329236.7_Missense_Mutation_p.R152H|RBM10_ENST00000345781.6_Missense_Mutation_p.R152H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AACTTCAAACGCCGAGAGAAG	0.597																																					Melanoma(171;120 2705 19495 39241)												0													86	61	69					X																	47038524		2203	4300	6503	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.686G>A	X.37:g.47038524G>A	ENSP00000366829:p.Arg229His		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R229H	ENST00000377604.3	37	c.686	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009161	0.93346	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.54071	0.59;0.59;0.59	5.16	5.16	0.70880	Zinc finger, RanBP2-type (4);	0.251378	0.38548	N	0.001656	T	0.72036	0.3411	M	0.79614	2.46	0.47476	D	0.999439	P;D;D;P;D	0.76494	0.939;0.998;0.999;0.726;0.998	P;D;D;B;D	0.68192	0.636;0.956;0.927;0.276;0.93	T	0.76239	-0.3032	10	0.72032	D	0.01	-0.2631	15.2785	0.73760	0.0:0.0:1.0:0.0	.	152;294;229;152;229	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	229;152;152	ENSP00000366829:R229H;ENSP00000328848:R152H;ENSP00000329659:R152H	ENSP00000328848:R152H	R	+	2	0	RBM10	46923468	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.781000	0.99029	2.286000	0.76751	0.436000	0.28706	CGC	RBM10	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.597	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47038524	1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47038524	G	A	47038524	3	1	117	1	0	0	0	0	1	0	0	0	13141	1087	38	2	712	2	RBM10	23	47038524	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2109162	47038524	108232036	1354	18822										
ZNF157	7712	genome.wustl.edu	37	chrX	47272077	47272077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgcaaaaaccttcagtgcaaGatcatacctcattgctcatc	5	12	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:47272077G>C	ENST00000377073.3	+	4	691	c.605G>C	c.(604-606)aGa>aCa	p.R202T		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	202					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTCAGTGCAAGATCATACCTC	0.428																																																	0													71	63	66					X																	47272077		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.605G>C	X.37:g.47272077G>C	ENSP00000366273:p.Arg202Thr		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R202T	ENST00000377073.3	37	c.605	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795960	0.16327	.	.	ENSG00000147117	ENST00000377073	T	0.07114	3.22	3.16	-0.671	0.11381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.42632	1.34	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.42749	-0.9433	9	0.21014	T	0.42	.	7.4056	0.26989	0.6382:0.0:0.3618:0.0	.	202	P51786	ZN157_HUMAN	T	202	ENSP00000366273:R202T	ENSP00000366273:R202T	R	+	2	0	ZNF157	47157021	0.000000	0.05858	0.001000	0.08648	0.995000	0.86356	-0.067000	0.11579	-0.320000	0.08640	0.538000	0.68166	AGA	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272077	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.001	C	C	47272077	G	C	47272077	3	2	117	1	0	0	0	0	1	0	0	0	17767	942	33	1	619	1	ZNF157	23	47272077	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	233553	47272077	107998483	1355	18823										
ZNF157	7712	genome.wustl.edu	37	chrX	47272385	47272385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggagaaaccttatgaatgtGgggagtgtgggaaaaacttc	15	4	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:47272385G>T	ENST00000377073.3	+	4	999	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	305					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTATGAATGTGGGGAGTGTGG	0.418																																																	0													40	42	41					X																	47272385		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.913G>T	X.37:g.47272385G>T	ENSP00000366273:p.Gly305Trp		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G305W	ENST00000377073.3	37	c.913	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622013	0.28889	.	.	ENSG00000147117	ENST00000377073	T	0.07800	3.16	2.9	-0.955	0.10356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	M	0.72118	2.19	0.09310	N	1	P	0.46020	0.871	P	0.47626	0.552	T	0.11518	-1.0584	9	0.87932	D	0	.	7.5812	0.27965	0.6637:0.0:0.3363:0.0	.	305	P51786	ZN157_HUMAN	W	305	ENSP00000366273:G305W	ENSP00000366273:G305W	G	+	1	0	ZNF157	47157329	0.000000	0.05858	0.079000	0.20413	0.969000	0.65631	-2.065000	0.01386	-0.419000	0.07439	-0.190000	0.12839	GGG	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272385	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.013	T	T	47272385	G	T	47272385	3	4	117	1	0	0	0	0	1	0	0	0	17767	1348	47	4	927	4	ZNF157	23	47272385	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	308	47272385	107998175	1356	18824										
SLC38A5	92745	genome.wustl.edu	37	chrX	48325234	48325234	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtggatggagtaggacgacaGaagcgcaatgcacagcagca	15	8	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:48325234G>A	ENST00000376876.3	-	5	1114	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	SLC38A5_ENST00000317669.5_Silent_p.L91L|SLC38A5_ENST00000376875.1_Silent_p.L40L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	91					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TAGGACGACAGAAGCGCAATG	0.667											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	0	0	3775	,	,		10576	0.001		0	False		,,,				2504	0																0													74	62	66					X																	48325234		2196	4297	6493	SO:0001819	synonymous_variant	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.271C>T	X.37:g.48325234G>A		953	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	pfam_AA_transpt_TM	p.L91	ENST00000376876.3	37	c.271	CCDS14293.1	X																																																																																			SLC38A5	-	pfam_AA_transpt_TM		0.667	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48325234	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	silent	SNP	0.976	A	A	48325234	G	A	48325234	2	1	117	1	0	0	0	0	0	0	0	1	14637	933	33	1		1	SLC38A5	23	48325234	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1052849	48325234	106945326	1357	18825										
KCND1	3750	genome.wustl.edu	37	chrX	48826642	48826642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagcccactgctgctgcccGagcaaaaggcagccacgtgg	12	16	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:48826642G>A	ENST00000218176.3	-	1	1334	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	13	Interaction with KCNIP2. {ECO:0000250}.				protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GCTGCTGCCCGAGCAAAAGGC	0.657																																																	0													11	10	10					X																	48826642		2176	4247	6423	SO:0001583	missense	3750			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.37C>T	X.37:g.48826642G>A	ENSP00000218176:p.Arg13Trp		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R13W	ENST00000218176.3	37	c.37	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387860	0.42308	.	.	ENSG00000102057	ENST00000218176	D	0.97404	-4.37	4.79	0.329	0.15924	Shal-type voltage-gated potassium channels (1);	0.000000	0.64402	D	0.000002	D	0.97626	0.9222	M	0.77486	2.375	0.48762	D	0.999705	D	0.89917	1.0	D	0.97110	1.0	D	0.96197	0.9142	10	0.87932	D	0	.	8.0905	0.30797	0.0863:0.0:0.4921:0.4215	.	13	Q9NSA2	KCND1_HUMAN	W	13	ENSP00000218176:R13W	ENSP00000218176:R13W	R	-	1	2	KCND1	48711586	0.780000	0.28664	0.007000	0.13788	0.853000	0.48598	0.992000	0.29667	0.071000	0.16664	0.422000	0.28245	CGG	KCND1	-	pfam_Shal-type		0.657	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	G	NM_004979		48826642	-1	no_errors	ENST00000218176	ensembl	human	known	70_37	missense	SNP	0.072	A	A	48826642	G	A	48826642	3	1	117	1	0	0	0	0	1	0	0	0	8038	1057	37	1	1930	1	KCND1	23	48826642	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	501408	48826642	106443918	1358	18826										
CCDC120	90060	genome.wustl.edu	37	chrX	48922603	48922603	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcagagagcagctccctctCagagtctggggccagccatg	12	14	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:48922603C>G	ENST00000376396.3	+	7	875	c.656C>G	c.(655-657)tCa>tGa	p.S219*	CCDC120_ENST00000536628.2_Nonsense_Mutation_p.S207*|CCDC120_ENST00000597275.1_Nonsense_Mutation_p.S219*|CCDC120_ENST00000496529.2_Nonsense_Mutation_p.S219*|CCDC120_ENST00000422185.2_Nonsense_Mutation_p.S219*|CCDC120_ENST00000603986.1_Nonsense_Mutation_p.S254*	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	219										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGCTCCCTCTCAGAGTCTGGG	0.607																																																	0													98	75	83					X																	48922603		2203	4300	6503	SO:0001587	stop_gained	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.656C>G	X.37:g.48922603C>G	ENSP00000365577:p.Ser219*		B4DFC1|B4DTU2|F5GZU4	Nonsense_Mutation	SNP	pfam_DUF3338	p.S219*	ENST00000376396.3	37	c.656	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.614537	0.97705	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	3.85	3.85	0.44370	.	0.197157	0.32802	N	0.005629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-5.4164	12.7259	0.57170	0.0:1.0:0.0:0.0	.	.	.	.	X	219;219;207	.	ENSP00000365577:S219X	S	+	2	0	CCDC120	48809547	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.362000	0.44169	1.880000	0.54463	0.292000	0.19580	TCA	CCDC120	-	NULL		0.607	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	C	NM_033626		48922603	1	no_errors	ENST00000422185	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	48922603	C	G	48922603	4	3	117	1	0	0	0	0	0	1	0	0	2761	838	29	1	674	1	CCDC120	23	48922603	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	95961	48922603	106347957	1359	18827										
CACNA1F	778	genome.wustl.edu	37	chrX	49072855	49072855	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccctcacgcaggccagccttCaaaggtggagacagtgaaca	11	13	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:49072855C>T	ENST00000376265.2	-	27	3317	c.3256G>A	c.(3256-3258)Gaa>Aaa	p.E1086K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1021K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1075K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1086	Dihydropyridine binding. {ECO:0000250}.	Calcium ion selectivity and permeability. {ECO:0000250}.			axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCAGCCTTCAAAGGTGGAG	0.587																																																	0													66	51	56					X																	49072855		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3256G>A	X.37:g.49072855C>T	ENSP00000365441:p.Glu1086Lys		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1086K	ENST00000376265.2	37	c.3256	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	29.8	5.033911	0.93575	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97480	-4.4;-4.4;-4.4	4.93	4.93	0.64822	Ion transport (1);	0.107041	0.64402	D	0.000006	D	0.98337	0.9448	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.99679	1.0998	10	0.87932	D	0	.	15.9803	0.80105	0.0:1.0:0.0:0.0	.	1075;1086	F5CIQ9;O60840	.;CAC1F_HUMAN	K	1021;1075;1086	ENSP00000365427:E1021K;ENSP00000321618:E1075K;ENSP00000365441:E1086K	ENSP00000321618:E1075K	E	-	1	0	CACNA1F	48959799	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.758000	0.85224	2.019000	0.59389	0.506000	0.49869	GAA	CACNA1F	-	pfam_Ion_trans_dom		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	C	NM_005183		49072855	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49072855	C	T	49072855	3	4	117	1	0	0	0	0	1	0	0	0	2548	835	29	1	2765	1	CACNA1F	23	49072855	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	150252	49072855	106197705	1360	18828										
AKAP4	8852	genome.wustl.edu	37	chrX	49957942	49957942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttgcctttgtccctctctttCatttcagctttcatggtgga	7	11	4	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:49957942C>T	ENST00000376056.2	-	5	1545	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	AKAP4_ENST00000376064.3_Missense_Mutation_p.M465I|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M474I					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCCTCTCTTTCATTTCAGCTT	0.438																																																	0													128	120	122					X																	49957942		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1395G>A	X.37:g.49957942C>T	ENSP00000365224:p.Met465Ile			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.M474I	ENST00000376056.2	37	c.1422	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	4.775	0.144116	0.09134	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.06849	3.25;3.25;3.25	4.58	4.58	0.56647	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.64402	D	0.000012	T	0.11410	0.0278	M	0.65975	2.015	0.80722	D	1	B	0.34349	0.45	B	0.34138	0.176	T	0.05649	-1.0872	9	.	.	.	-11.2958	12.0015	0.53232	0.0:1.0:0.0:0.0	.	474	Q5JQC9	AKAP4_HUMAN	I	465;474;465	ENSP00000365224:M465I;ENSP00000351327:M474I;ENSP00000365232:M465I	.	M	-	3	0	AKAP4	49844682	1.000000	0.71417	0.968000	0.41197	0.357000	0.29423	3.900000	0.56295	1.874000	0.54306	0.458000	0.33432	ATG	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.438	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	C	NM_003886		49957942	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49957942	C	T	49957942	3	4	117	1	0	0	0	0	1	0	0	0	453	826	29	1	1150	1	AKAP4	23	49957942	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	885087	49957942	105312618	1361	18829										
AKAP4	8852	genome.wustl.edu	37	chrX	49958260	49958260	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtgtgccttagcaacaccctCttcaggaccacagatgctgg	10	13	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:49958260C>G	ENST00000376056.2	-	5	1227	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N	AKAP4_ENST00000376064.3_Missense_Mutation_p.K359N|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K368N					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCAACACCCTCTTCAGGACCA	0.463																																																	0													58	50	53					X																	49958260		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1077G>C	X.37:g.49958260C>G	ENSP00000365224:p.Lys359Asn			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.K368N	ENST00000376056.2	37	c.1104	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	9.318	1.057378	0.19907	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.13420	2.59;2.59;2.59	4.8	3.94	0.45596	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.51477	D	0.000085	T	0.27063	0.0663	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.54060	0.741	T	0.01371	-1.1372	9	.	.	.	-10.856	8.2077	0.31465	0.0:0.8845:0.0:0.1155	.	368	Q5JQC9	AKAP4_HUMAN	N	359;368;359	ENSP00000365224:K359N;ENSP00000351327:K368N;ENSP00000365232:K359N	.	K	-	3	2	AKAP4	49845000	1.000000	0.71417	0.918000	0.36340	0.092000	0.18411	0.810000	0.27183	0.823000	0.34589	-0.374000	0.07098	AAG	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	C	NM_003886		49958260	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	0.987	G	G	49958260	C	G	49958260	3	3	117	1	0	0	0	0	1	0	0	0	453	912	32	1	1468	1	AKAP4	23	49958260	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	318	49958260	105312300	1362	18830										
DGKK	139189	genome.wustl.edu	37	chrX	50213452	50213452	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggtcggttctgtgtacagttCtgtggctgattctgaggtcg	15	7	3	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:50213452C>T	ENST00000376025.2	-	0	285							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGTACAGTTCTGTGGCTGAT	0.642																																																	0													71	82	79					X																	50213452		1912	4110	6022			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213452C>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.642	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50213452	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.756	T	T	50213452	C	T	50213452	1	4	117	0	1	0	0	0	0	0	0	0	4482	922	32	1		1	DGKK	23	50213452	RNA	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	255192	50213452	105057108	1363	18831										
KDM5C	8242	genome.wustl.edu	37	chrX	53253979	53253979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gcgatgggcctgattttcgcGatgtagccaagagggtctcg	15	9	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:53253979G>A	ENST00000375401.3	-	1	625	c.93C>T	c.(91-93)atC>atT	p.I31I	KDM5C_ENST00000452825.3_Silent_p.I31I|KDM5C_ENST00000375383.3_Silent_p.I31I|KDM5C_ENST00000375379.3_Silent_p.I31I|KDM5C_ENST00000404049.3_Silent_p.I31I	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	31	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGATTTTCGCGATGTAGCCAA	0.652			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													48	41	43					X																	53253979		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.93C>T	X.37:g.53253979G>A			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.I31	ENST00000375401.3	37	c.93	CCDS14351.1	X																																																																																			KDM5C	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.652	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	G	NM_004187		53253979	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	silent	SNP	0.979	A	A	53253979	G	A	53253979	2	1	117	1	0	0	0	0	0	0	0	1	8155	1048	37	1		1	KDM5C	23	53253979	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3040527	53253979	102016581	1364	18832										
HUWE1	10075	genome.wustl.edu	37	chrX	53644394	53644394	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttgaaatacaaacacagtCaccacttcagtagctaaaaa	4	10	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:53644394C>T	ENST00000342160.3	-	19	2143	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	HUWE1_ENST00000218328.8_Silent_p.V562V|HUWE1_ENST00000262854.6_Silent_p.V562V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	562					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAACACAGTCACCACTTCAG	0.368																																																	0													60	47	51					X																	53644394		2202	4298	6500	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1686G>A	X.37:g.53644394C>T			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.V562	ENST00000342160.3	37	c.1686	CCDS35301.1	X																																																																																			HUWE1	-	pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold		0.368	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53644394	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53644394	C	T	53644394	2	4	117	1	0	0	0	0	0	0	0	1	7481	813	29	1		1	HUWE1	23	53644394	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	390415	53644394	101626166	1365	18833										
PHF8	23133	genome.wustl.edu	37	chrX	54011586	54011586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tagaggtagccggtgaggacGatgaggactgcaggttggcc	18	7	0	3	rs377130882		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:54011586G>A	ENST00000357988.5	-	18	2670	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	PHF8_ENST00000338946.6_Missense_Mutation_p.S634L|PHF8_ENST00000338154.6_Missense_Mutation_p.S735L|PHF8_ENST00000322659.8_Missense_Mutation_p.S718L	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	771	Ser-rich.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CGGTGAGGACGATGAGGACTG	0.612																																																	0													51	39	43					X																	54011586		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2312C>T	X.37:g.54011586G>A	ENSP00000350676:p.Ser771Leu		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S771L	ENST00000357988.5	37	c.2312	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061792|3.061792	0.55432|0.55432	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.27104	.|2.35;2.1;2.07;1.69	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.196102	.|0.46145	.|D	.|0.000314	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.38175|0.38175	1.15|1.15	0.29027|0.29027	N|N	0.885935|0.885935	.|B;D;D;D;D	.|0.71674	.|0.057;0.998;0.997;0.998;0.997	.|B;P;P;P;P	.|0.60682	.|0.046;0.878;0.68;0.878;0.758	T|T	0.16100|0.16100	-1.0414|-1.0414	6|10	0.87932|0.28530	D|T	0|0.3	-2.7863|-2.7863	16.1391|16.1391	0.81512|0.81512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|257;735;634;670;771	.|B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;.;.;PHF8_HUMAN	C|L	639;211|771;735;634;664;718	.|ENSP00000350676:S771L;ENSP00000338868:S735L;ENSP00000340051:S634L;ENSP00000319473:S718L	ENSP00000364335:R211C|ENSP00000319473:S718L	R|S	-|-	1|2	0|0	PHF8|PHF8	54028311|54028311	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.917000|0.917000	0.54804|0.54804	6.080000|6.080000	0.71299|0.71299	2.414000|2.414000	0.81942|0.81942	0.600000|0.600000	0.82982|0.82982	CGT|TCG	PHF8	-	NULL		0.612	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	G	NM_015107		54011586	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	0.995	A	A	54011586	G	A	54011586	3	1	117	1	0	0	0	0	1	0	0	0	11864	1059	37	1	1016	1	PHF8	23	54011586	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	367192	54011586	101258974	1366	18834										
FGD1	2245	genome.wustl.edu	37	chrX	54497876	54497876	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctctaggctttggccagggtCaagggacaaacttttaacca	10	10	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:54497876C>T	ENST00000375135.3	-	2	1085	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	118	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGCCAGGGTCAAGGGACAAA	0.567																																																	0													53	53	53					X																	54497876		2203	4300	6503	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.352G>A	X.37:g.54497876C>T	ENSP00000364277:p.Asp118Asn		Q5H999|Q8N4D9	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.D118N	ENST00000375135.3	37	c.352	CCDS14359.1	X	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886212	0.72410	.	.	ENSG00000102302	ENST00000375135	T	0.69175	-0.38	4.88	4.88	0.63580	.	0.129946	0.35349	N	0.003279	T	0.49064	0.1535	N	0.14661	0.345	0.39616	D	0.969966	P	0.37781	0.608	B	0.32289	0.143	T	0.59204	-0.7498	10	0.54805	T	0.06	-15.865	16.1819	0.81915	0.0:1.0:0.0:0.0	.	118	P98174	FGD1_HUMAN	N	118	ENSP00000364277:D118N	ENSP00000364277:D118N	D	-	1	0	FGD1	54514601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.823000	0.62694	2.159000	0.67721	0.436000	0.28706	GAC	FGD1	-	NULL		0.567	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	C	NM_004463		54497876	-1	no_errors	ENST00000375135	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54497876	C	T	54497876	3	4	117	1	0	0	0	0	1	0	0	0	5850	826	29	1	2601	1	FGD1	23	54497876	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	486290	54497876	100772684	1367	18835										
USP51	158880	genome.wustl.edu	37	chrX	55514414	55514414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgtcataaactgttgatgaGaaacatctgttgaggtggaa	11	4	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:55514414G>A	ENST00000500968.3	-	2	1041	c.959C>T	c.(958-960)tCt>tTt	p.S320F	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	320					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CTGTTGATGAGAAACATCTGT	0.348																																																	0													87	86	86					X																	55514414		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.959C>T	X.37:g.55514414G>A	ENSP00000423333:p.Ser320Phe		Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S320F	ENST00000500968.3	37	c.959	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	12.76	2.034425	0.35893	.	.	ENSG00000247746	ENST00000500968	T	0.11930	2.73	3.19	2.26	0.28386	.	1.259480	0.06044	U	0.655323	T	0.19046	0.0457	L	0.27053	0.805	0.33510	D	0.591032	D	0.67145	0.996	P	0.56700	0.804	T	0.24012	-1.0172	10	0.72032	D	0.01	.	6.5397	0.22372	0.0:0.0:0.7137:0.2863	.	320	Q70EK9	UBP51_HUMAN	F	320	ENSP00000423333:S320F	ENSP00000423333:S320F	S	-	2	0	USP51	55531139	1.000000	0.71417	0.838000	0.33150	0.956000	0.61745	0.613000	0.24299	0.680000	0.31366	0.508000	0.49915	TCT	USP51	-	NULL		0.348	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	G	NM_201286		55514414	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	0.732	A	A	55514414	G	A	55514414	3	1	117	1	0	0	0	0	1	0	0	0	17114	942	33	1	1180	1	USP51	23	55514414	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1016538	55514414	99756146	1368	18836										
FOXR2	139628	genome.wustl.edu	37	chrX	55650925	55650925	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cagacagccttaaggatgaaGataatgcaagacctcgctct	9	10	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:55650925G>A	ENST00000339140.3	+	1	1093	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	261					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAAGGATGAAGATAATGCAAG	0.522																																																	0													88	80	83					X																	55650925		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.781G>A	X.37:g.55650925G>A	ENSP00000427329:p.Asp261Asn			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.D261N	ENST00000339140.3	37	c.781	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	6.050	0.377568	0.11466	.	.	ENSG00000189299	ENST00000339140	D	0.95342	-3.68	3.57	-7.13	0.01532	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	2.386240	0.01645	N	0.024271	D	0.87426	0.6174	N	0.12746	0.255	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.79834	-0.1636	10	0.40728	T	0.16	.	10.774	0.46340	0.6883:0.1981:0.1136:0.0	.	261	Q6PJQ5	FOXR2_HUMAN	N	261	ENSP00000427329:D261N	ENSP00000427329:D261N	D	+	1	0	FOXR2	55667650	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-3.545000	0.00143	-0.909000	0.02823	GAT	FOXR2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.522	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55650925	1	no_errors	ENST00000339140	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55650925	G	A	55650925	3	1	117	1	0	0	0	0	1	0	0	0	6050	942	33	1	783	1	FOXR2	23	55650925	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	136511	55650925	99619635	1369	18837										
MSN	4478	genome.wustl.edu	37	chrX	64958439	64958439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ctcccagctggagatggcccGacagaagaaggagagtgagg	16	9	0	5	rs371555667		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:64958439G>A	ENST00000360270.5	+	11	1476	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	435					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.R435Q(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GAGATGGCCCGACAGAAGAAG	0.532			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	large_intestine(1)						G	GLN/ARG	0,3835		0,0,1632,571	65	57	59		1304	4.7	1	X		59	1,6726		0,1,2427,1871	no	missense	MSN	NM_002444.2	43	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	benign	435/578	64958439	1,10561	2203	4299	6502	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1304G>A	X.37:g.64958439G>A	ENSP00000353408:p.Arg435Gln			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.R435Q	ENST00000360270.5	37	c.1304	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	g	18.17	3.565490	0.65651	0.0	1.49E-4	ENSG00000147065	ENST00000360270	D	0.83075	-1.68	4.67	4.67	0.58626	Ezrin/radixin/moesin, C-terminal (1);	0.270322	0.40302	N	0.001137	T	0.82075	0.4958	M	0.65498	2.005	0.50039	D	0.999843	B	0.22851	0.076	B	0.26094	0.066	T	0.79995	-0.1568	10	0.41790	T	0.15	.	15.4828	0.75542	0.0:0.0:1.0:0.0	.	435	P26038	MOES_HUMAN	Q	435	ENSP00000353408:R435Q	ENSP00000353408:R435Q	R	+	2	0	MSN	64875164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.826000	0.69293	2.306000	0.77630	0.591000	0.81541	CGA	MSN	-	pirsf_ERM,pfam_ERM_C		0.532	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	G	NM_002444		64958439	1	no_errors	ENST00000360270	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64958439	G	A	64958439	3	1	117	1	0	0	0	0	1	0	0	0	9908	1058	37	1	1346	1	MSN	23	64958439	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	9307514	64958439	90312121	1370	18838										
AR	367	genome.wustl.edu	37	chrX	66863102	66863102	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttttgtgtctttccagtttgGagactgccagggaccatgtt	11	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:66863102G>C	ENST00000374690.3	+	2	2145	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	AR_ENST00000396044.3_Missense_Mutation_p.E541Q|AR_ENST00000504326.1_Missense_Mutation_p.E541Q|AR_ENST00000396043.2_Missense_Mutation_p.E9Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	540	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTCCAGTTTGGAGACTGCCAG	0.468									Androgen Insensitivity Syndrome																																								0													168	138	148					X																	66863102		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1621G>C	X.37:g.66863102G>C	ENSP00000363822:p.Glu541Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.E541Q	ENST00000374690.3	37	c.1621	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528092	0.64860	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.91945	-2.28;-2.94;-2.37;-2.17	5.37	5.37	0.77165	.	0.215165	0.47852	D	0.000207	D	0.90823	0.7118	L	0.47716	1.5	0.47905	D	0.999548	P;P;P;B	0.45634	0.751;0.849;0.863;0.045	B;B;P;B	0.45276	0.309;0.309;0.475;0.034	D	0.91903	0.5533	10	0.72032	D	0.01	.	15.4234	0.75031	0.0:0.0:1.0:0.0	.	541;541;9;540	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Q	351;541;541;541;9	ENSP00000363822:E541Q;ENSP00000421155:E541Q;ENSP00000379359:E541Q;ENSP00000379358:E9Q	ENSP00000363822:E541Q	E	+	1	0	AR	66779827	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	7.093000	0.76937	2.234000	0.73211	0.523000	0.50628	GAG	AR	-	NULL		0.468	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66863102	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66863102	G	C	66863102	3	2	117	1	0	0	0	0	1	0	0	0	836	1175	41	1	1651	1	AR	23	66863102	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1904663	66863102	88407458	1371	18839										
FOXO4	4303	genome.wustl.edu	37	chrX	70316571	70316571	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tacacacggaggggcgctcaGagccgatcctgttgccctct	12	14	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70316571G>A	ENST00000374259.3	+	1	525	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FOXO4_ENST00000341558.3_Intron|FOXO4_ENST00000466874.1_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	65					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGGGCGCTCAGAGCCGATCCT	0.701																																																	0													13	14	14					X																	70316571		1834	4064	5898	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.193G>A	X.37:g.70316571G>A	ENSP00000363377:p.Glu65Lys		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E65K	ENST00000374259.3	37	c.193	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	G	0.477	-0.881809	0.02530	.	.	ENSG00000184481	ENST00000374259	D	0.95001	-3.58	4.3	3.43	0.39272	.	0.332844	0.25639	N	0.029289	D	0.87341	0.6153	N	0.25647	0.755	0.27827	N	0.941591	B;B	0.16802	0.01;0.019	B;B	0.20184	0.007;0.028	T	0.71922	-0.4446	10	0.07813	T	0.8	-22.714	9.3032	0.37858	0.1101:0.0:0.8899:0.0	.	65;65	B4DTB6;P98177	.;FOXO4_HUMAN	K	65	ENSP00000363377:E65K	ENSP00000363377:E65K	E	+	1	0	FOXO4	70233296	0.000000	0.05858	0.029000	0.17559	0.022000	0.10575	0.378000	0.20569	0.949000	0.37715	0.594000	0.82650	GAG	FOXO4	-	NULL		0.701	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	G	NM_005938		70316571	1	no_errors	ENST00000374259	ensembl	human	known	70_37	missense	SNP	0.041	A	A	70316571	G	A	70316571	3	1	117	1	0	0	0	0	1	0	0	0	6043	943	33	1	195	1	FOXO4	23	70316571	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	3453469	70316571	84953989	1372	18840										
NONO	4841	genome.wustl.edu	37	chrX	70517280	70517280	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggaagagctgcacaaccaaGaggtgcaaaaacgaaagcaa	11	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70517280G>T	ENST00000276079.8	+	8	1202	c.997G>T	c.(997-999)Gag>Tag	p.E333*	NONO_ENST00000535149.1_Nonsense_Mutation_p.E244*|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Nonsense_Mutation_p.E333*|NONO_ENST00000373841.1_Nonsense_Mutation_p.E333*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	333	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCACAACCAAGAGGTGCAAAA	0.408			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	0													83	65	71					X																	70517280		2195	4275	6470	SO:0001587	stop_gained	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.997G>T	X.37:g.70517280G>T	ENSP00000276079:p.Glu333*		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E333*	ENST00000276079.8	37	c.997	CCDS14410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	27.9|27.9	4.875197|4.875197	0.91664|0.91664	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858|ENST00000418921	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72439	.|0.3460	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74064	.|-0.3785	.|3	0.42905|.	T|.	0.14|.	-11.6207|-11.6207	17.1858|17.1858	0.86866|0.86866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	244;333;333;333;241|194	.|.	ENSP00000276079:E333X|.	E|K	+|+	1|3	0|2	NONO|NONO	70434005|70434005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.202000|9.202000	0.95026|0.95026	2.237000|2.237000	0.73441|0.73441	0.436000|0.436000	0.28706|0.28706	GAG|AAG	NONO	-	NULL		0.408	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	G	NM_007363		70517280	1	no_errors	ENST00000276079	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70517280	G	T	70517280	4	4	117	1	0	0	0	0	0	1	0	0	10558	943	33	3	1019	3	NONO	23	70517280	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	200709	70517280	84753280	1373	18841										
ITGB1BP2	26548	genome.wustl.edu	37	chrX	70521661	70521661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcaaccaacgcttccatgtCtctactctgtcgtaacaaag	5	13	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70521661C>G	ENST00000373829.3	+	1	78	c.5C>G	c.(4-6)tCt>tGt	p.S2C	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	2					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GCTTCCATGTCTCTACTCTGT	0.512																																																	0													80	71	74					X																	70521661		2203	4300	6503	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.5C>G	X.37:g.70521661C>G	ENSP00000362935:p.Ser2Cys		Q32N04|Q549J7	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.S2C	ENST00000373829.3	37	c.5	CCDS14411.1	X	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494003	0.64186	.	.	ENSG00000147166	ENST00000373829	.	.	.	4.9	4.9	0.64082	Cysteine/histidine-rich domain (1);	0.110603	0.64402	D	0.000008	T	0.71178	0.3309	M	0.65498	2.005	0.39565	D	0.969182	D	0.65815	0.995	D	0.65684	0.937	T	0.75797	-0.3191	9	0.87932	D	0	-10.4641	12.1854	0.54236	0.0:1.0:0.0:0.0	.	2	Q9UKP3	ITBP2_HUMAN	C	2	.	ENSP00000362935:S2C	S	+	2	0	ITGB1BP2	70438386	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.084000	0.57650	2.265000	0.75225	0.600000	0.82982	TCT	ITGB1BP2	-	pfam_CHORD		0.512	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	C	NM_012278		70521661	1	no_errors	ENST00000373829	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70521661	C	G	70521661	3	3	117	1	0	0	0	0	1	0	0	0	7912	913	32	1	7	1	ITGB1BP2	23	70521661	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4381	70521661	84748899	1374	18842										
TAF1	6872	genome.wustl.edu	37	chrX	70613181	70613181	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtcccgctgggaagtgattGatgtggtgcgcacaatgtca	14	8	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70613181G>A	ENST00000373790.4	+	21	3130	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	TAF1_ENST00000423759.1_Missense_Mutation_p.D1048N|TAF1_ENST00000276072.3_Missense_Mutation_p.D1048N|TAF1_ENST00000449580.1_Missense_Mutation_p.D1027N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1027					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGAAGTGATTGATGTGGTGCG	0.458																																																	0													122	112	116					X																	70613181		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3079G>A	X.37:g.70613181G>A	ENSP00000362895:p.Asp1027Asn		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D1027N	ENST00000373790.4	37	c.3079	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	34	5.402575	0.96030	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.47	5.47	0.80525	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.996	T	0.54132	-0.8339	10	0.87932	D	0	.	18.4528	0.90710	0.0:0.0:1.0:0.0	.	1027;1027;1048	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	N	1027;1027;1048;1048	ENSP00000362895:D1027N;ENSP00000389000:D1027N;ENSP00000406549:D1048N;ENSP00000276072:D1048N	ENSP00000276072:D1048N	D	+	1	0	TAF1	70529906	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	9.209000	0.95087	2.299000	0.77371	0.600000	0.82982	GAT	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70613181	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70613181	G	A	70613181	3	1	117	1	0	0	0	0	1	0	0	0	15543	1290	45	1	3224	1	TAF1	23	70613181	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	91520	70613181	84657379	1375	18843										
MAGEE1	57692	genome.wustl.edu	37	chrX	75649011	75649011	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccgtgcaggccactcctgatGagggaccgagcacctccgtg	13	15	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:75649011G>A	ENST00000361470.2	+	1	966	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	230	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACTCCTGATGAGGGACCGAG	0.706																																																	0													21	20	21					X																	75649011		2199	4292	6491	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.688G>A	X.37:g.75649011G>A	ENSP00000354912:p.Glu230Lys		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E230K	ENST00000361470.2	37	c.688	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407774	0.42715	.	.	ENSG00000198934	ENST00000361470	T	0.16196	2.36	2.19	1.27	0.21489	.	.	.	.	.	T	0.08403	0.0209	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.26770	0.073	T	0.26608	-1.0098	9	0.30854	T	0.27	.	4.6174	0.12433	0.2047:0.0:0.7953:0.0	.	230	Q9HCI5	MAGE1_HUMAN	K	230	ENSP00000354912:E230K	ENSP00000354912:E230K	E	+	1	0	MAGEE1	75565415	0.000000	0.05858	0.040000	0.18447	0.124000	0.20399	0.154000	0.16343	0.321000	0.23259	0.544000	0.68410	GAG	MAGEE1	-	NULL		0.706	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649011	1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.014	A	A	75649011	G	A	75649011	3	1	117	1	0	0	0	0	1	0	0	0	9208	1291	45	1	690	1	MAGEE1	23	75649011	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	5035830	75649011	79621549	1376	18844										
FAM46D	169966	genome.wustl.edu	37	chrX	79698858	79698858	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttattgattttcctcatataGaagaacagcaaaagaaaatt	5	5	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:79698858G>T	ENST00000308293.5	+	3	1059	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	FAM46D_ENST00000538312.1_Nonsense_Mutation_p.E274*	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	274										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCCTCATATAGAAGAACAGCA	0.383																																																	0													65	58	60					X																	79698858		2203	4294	6497	SO:0001587	stop_gained	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.820G>T	X.37:g.79698858G>T	ENSP00000308575:p.Glu274*		B2R9Q6|Q7Z3F6|Q8NHU1	Nonsense_Mutation	SNP	pfam_DUF1693	p.E274*	ENST00000308293.5	37	c.820	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098849	0.37048	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	.	.	.	4.57	2.62	0.31277	.	1.187780	0.05833	N	0.617849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	1.2133	6.8584	0.24054	0.3331:0.0:0.6669:0.0	.	.	.	.	X	274	.	ENSP00000308575:E274X	E	+	1	0	FAM46D	79585514	0.770000	0.28543	0.006000	0.13384	0.003000	0.03518	1.212000	0.32394	0.934000	0.37316	-0.230000	0.12252	GAA	FAM46D	-	pfam_DUF1693		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	G	NM_152630		79698858	1	no_errors	ENST00000308293	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	79698858	G	T	79698858	4	4	117	1	0	0	0	0	0	1	0	0	5586	943	33	3	822	3	FAM46D	23	79698858	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4049847	79698858	75571702	1377	18845										
KLHL4	56062	genome.wustl.edu	37	chrX	86772994	86772994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcaaggttccaccaacactgGaagctgtcttcagcaggaag	10	11	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:86772994G>A	ENST00000373119.4	+	1	243	c.98G>A	c.(97-99)gGa>gAa	p.G33E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G33E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACCAACACTGGAAGCTGTCTT	0.498																																																	0													98	87	91					X																	86772994		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.98G>A	X.37:g.86772994G>A	ENSP00000362211:p.Gly33Glu		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G33E	ENST00000373119.4	37	c.98	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367413	0.61513	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79033	-1.23;-1.2	5.05	3.27	0.37495	.	1.519690	0.04232	N	0.335440	D	0.85017	0.5601	M	0.71581	2.175	0.53005	D	0.999962	D;P	0.55605	0.972;0.933	P;P	0.55871	0.748;0.786	T	0.70521	-0.4849	10	0.72032	D	0.01	.	8.4094	0.32634	0.0825:0.0:0.7639:0.1535	.	33;33	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	33	ENSP00000362211:G33E;ENSP00000362206:G33E	ENSP00000362206:G33E	G	+	2	0	KLHL4	86659650	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	6.863000	0.75489	0.516000	0.28340	-0.371000	0.07208	GGA	KLHL4	-	NULL		0.498	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	G			86772994	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86772994	G	A	86772994	3	1	117	1	0	0	0	0	1	0	0	0	8411	1174	41	1	100	1	KLHL4	23	86772994	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7074136	86772994	68497566	1378	18846										
NAP1L3	4675	genome.wustl.edu	37	chrX	92927910	92927910	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcagcatattttctttcaaGatcatgaattgcttttaaga	5	6	4	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:92927910G>C	ENST00000373079.3	-	1	657	c.394C>G	c.(394-396)Ctt>Gtt	p.L132V	NAP1L3_ENST00000475430.2_Missense_Mutation_p.L125V|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	132					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTTCTTTCAAGATCATGAATT	0.398																																																	0													44	39	41					X																	92927910		2203	4300	6503	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.394C>G	X.37:g.92927910G>C	ENSP00000362171:p.Leu132Val		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.L132V	ENST00000373079.3	37	c.394	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696957	0.48202	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.34472	1.36	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.76170	2.325	0.26766	N	0.969896	D	0.76494	0.999	D	0.87578	0.998	T	0.47114	-0.9142	10	0.87932	D	0	-14.8972	6.6314	0.22859	0.1273:0.0:0.8727:0.0	.	132	Q99457	NP1L3_HUMAN	V	132;125	ENSP00000362171:L132V	ENSP00000362171:L132V	L	-	1	0	NAP1L3	92814566	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	1.391000	0.34475	2.225000	0.72522	0.529000	0.55759	CTT	NAP1L3	-	pfam_NAP_family		0.398	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	G	NM_004538		92927910	-1	no_errors	ENST00000373079	ensembl	human	known	70_37	missense	SNP	0.999	C	C	92927910	G	C	92927910	3	2	117	1	0	0	0	0	1	0	0	0	10181	942	33	1	1130	1	NAP1L3	23	92927910	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	6154916	92927910	62342650	1379	18847										
CSTF2	1478	genome.wustl.edu	37	chrX	100077239	100077239	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	acacttggttctgctctccaGattggtatacgatagagaga	10	8	2	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:100077239G>C	ENST00000372972.2	+	3	153		c.e3-1		CSTF2_ENST00000415585.2_Splice_Site|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CTGCTCTCCAGATTGGTATAC	0.453																																																	0													64	52	56					X																	100077239		2203	4300	6503	SO:0001630	splice_region_variant	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.138-1G>C	X.37:g.100077239G>C			Q5H951|Q6LA74|Q8N502	Splice_Site	SNP	-	e3-1	ENST00000372972.2	37	c.138-1	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912933	0.72983	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.749	0.88429	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSTF2	99963895	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	9.154000	0.94694	2.121000	0.65114	0.529000	0.55759	.	CSTF2	-	-		0.453	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	G	NM_001325	Intron	100077239	1	no_errors	ENST00000415585	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	100077239	G	C	100077239	5	2	117	1	0	0	0	0	0	0	1	0	3989	956	33	1	147	1	CSTF2	23	100077239	Splice_Site	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	7149329	100077239	55193321	1380	18848										
ARMCX2	9823	genome.wustl.edu	37	chrX	100910949	100910949	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgggtactgagaagtttcttCaacatatctggattttcagc	9	7	4	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:100910949C>T	ENST00000328766.5	-	5	2079	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L	ARMCX2_ENST00000356824.4_Silent_p.L542L|ARMCX2_ENST00000330154.2_Silent_p.L542L|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	542						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAAGTTTCTTCAACATATCTG	0.368																																																	0													66	67	67					X																	100910949		2201	4300	6501	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1626G>A	X.37:g.100910949C>T			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.L542	ENST00000328766.5	37	c.1626	CCDS14490.1	X																																																																																			ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.368	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	C	NM_014782		100910949	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	0.995	T	T	100910949	C	T	100910949	2	4	117	1	0	0	0	0	0	0	0	1	961	825	29	1		1	ARMCX2	23	100910949	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	833710	100910949	54359611	1381	18849										
TEX13B	56156	genome.wustl.edu	37	chrX	107225195	107225195	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgggcacctcgctgtcctCcaggatggccctgagcttgt	13	14	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:107225195C>A	ENST00000302917.1	-	2	255	c.163G>T	c.(163-165)Gag>Tag	p.E55*		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	55										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TCGCTGTCCTCCAGGATGGCC	0.592																																																	0													101	92	95					X																	107225195		2199	4300	6499	SO:0001587	stop_gained	56156			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.163G>T	X.37:g.107225195C>A	ENSP00000303777:p.Glu55*		Q5JYF6	Nonsense_Mutation	SNP	NULL	p.E55*	ENST00000302917.1	37	c.163	CCDS14534.1	X	.	.	.	.	.	.	.	.	.	.	C	15.98	2.994025	0.54041	.	.	ENSG00000170925	ENST00000302917	.	.	.	2.96	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.1769	0.15139	0.0:0.8314:0.0:0.1686	.	.	.	.	X	55	.	ENSP00000303777:E55X	E	-	1	0	TEX13B	107111851	0.770000	0.28543	0.011000	0.14972	0.064000	0.16182	0.926000	0.28804	0.640000	0.30582	0.523000	0.50628	GAG	TEX13B	-	NULL		0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	C			107225195	-1	no_errors	ENST00000302917	ensembl	human	known	70_37	nonsense	SNP	0.010	A	A	107225195	C	A	107225195	4	1	117	1	0	0	0	0	0	1	0	0	15807	864	30	3	783	3	TEX13B	23	107225195	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	6314246	107225195	48045365	1382	18850										
COL4A5	1287	genome.wustl.edu	37	chrX	107911727	107911727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gggccccaaggtcctcctggGagaccaggtatgtccgtgag	15	12	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:107911727G>A	ENST00000361603.2	+	41	4027	c.3783G>A	c.(3781-3783)ggG>ggA	p.G1261G	COL4A5_ENST00000328300.6_Silent_p.G1261G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1261	Triple-helical region.		G -> E (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCTCCTGGGAGACCAGGTA	0.522									Alport syndrome with Diffuse Leiomyomatosis																																								0													28	27	27					X																	107911727		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3783G>A	X.37:g.107911727G>A			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1261	ENST00000361603.2	37	c.3783	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen		0.522	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107911727	1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	1.000	A	A	107911727	G	A	107911727	2	1	117	1	0	0	0	0	0	0	0	1	3699	1161	41	1		1	COL4A5	23	107911727	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	686532	107911727	47358833	1383	18851										
IRS4	8471	genome.wustl.edu	37	chrX	107979074	107979074	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcttgggtgaaaagagcaatGaggtgtcggtaccttgcatc	13	7	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:107979074G>A	ENST00000372129.2	-	1	577	c.501C>T	c.(499-501)ctC>ctT	p.L167L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	167	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAGCAATGAGGTGTCGGT	0.597																																																	0													74	60	65					X																	107979074		2203	4300	6503	SO:0001819	synonymous_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.501C>T	X.37:g.107979074G>A				Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.L167	ENST00000372129.2	37	c.501	CCDS14544.1	X																																																																																			IRS4	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	G	NM_003604		107979074	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	silent	SNP	1.000	A	A	107979074	G	A	107979074	2	1	117	1	0	0	0	0	0	0	0	1	7862	1277	45	1		1	IRS4	23	107979074	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	67347	107979074	47291486	1384	18852										
NXT2	55916	genome.wustl.edu	37	chrX	108781313	108781313	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atcaggcatgtagagctgctGaggagtttgtcaatatttac	11	6	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:108781313G>C	ENST00000372106.1	+	2	186	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372103.1_5'UTR|NXT2_ENST00000218004.1_Missense_Mutation_p.E74Q	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	19	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TAGAGCTGCTGAGGAGTTTGT	0.333																																																	0													134	132	132					X																	108781313		2203	4300	6503	SO:0001583	missense	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.55G>C	X.37:g.108781313G>C	ENSP00000361178:p.Glu19Gln		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.E74Q	ENST00000372106.1	37	c.220	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	g	18.73	3.685693	0.68157	.	.	ENSG00000101888	ENST00000218004;ENST00000372106	.	.	.	5.44	4.57	0.56435	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	L	0.55990	1.75	0.80722	D	1	P;P	0.36909	0.573;0.518	P;B	0.51701	0.677;0.424	T	0.68812	-0.5310	9	0.39692	T	0.17	.	13.8352	0.63404	0.0766:0.0:0.9234:0.0	.	19;74	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	Q	74;19	.	ENSP00000218004:E74Q	E	+	1	0	NXT2	108667969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	1.345000	0.45676	0.597000	0.82753	GAG	NXT2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.333	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	HGNC	protein_coding	OTTHUMT00000057886.1	G	NM_018698		108781313	1	no_errors	ENST00000218004	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108781313	G	C	108781313	3	2	117	1	0	0	0	0	1	0	0	0	10819	1291	45	1	230	1	NXT2	23	108781313	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	802239	108781313	46489247	1385	18853										
NXT2	55916	genome.wustl.edu	37	chrX	108785781	108785781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agttcttgttgtgaccagtgGaactgtgaagtttgatggaa	13	4	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:108785781G>T	ENST00000372106.1	+	4	424	c.293G>T	c.(292-294)gGa>gTa	p.G98V	NXT2_ENST00000372107.1_Missense_Mutation_p.G70V|NXT2_ENST00000372103.1_Missense_Mutation_p.G70V|NXT2_ENST00000218004.1_Missense_Mutation_p.G153V	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	98	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						GTGACCAGTGGAACTGTGAAG	0.393																																																	0													110	88	96					X																	108785781		2203	4300	6503	SO:0001583	missense	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.293G>T	X.37:g.108785781G>T	ENSP00000361178:p.Gly98Val		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.G153V	ENST00000372106.1	37	c.458	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708973	0.89018	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.45	5.45	0.79879	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89539	0.3791	9	0.87932	D	0	.	18.9548	0.92654	0.0:0.0:1.0:0.0	.	98;153	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	V	153;70;98;70	.	ENSP00000218004:G153V	G	+	2	0	NXT2	108672437	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.476000	0.97823	2.618000	0.88619	0.600000	0.82982	GGA	NXT2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.393	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	HGNC	protein_coding	OTTHUMT00000057886.1	G	NM_018698		108785781	1	no_errors	ENST00000218004	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108785781	G	T	108785781	3	4	117	1	0	0	0	0	1	0	0	0	10819	1174	41	3	476	3	NXT2	23	108785781	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	4468	108785781	46484779	1386	18854										
CHRDL1	91851	genome.wustl.edu	37	chrX	109924798	109924798	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gttgtctccccatcctccatGaatacagactcatacacagg	6	14	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:109924798G>A	ENST00000372045.1	-	10	1175	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	CHRDL1_ENST00000372042.1_Silent_p.F356F|CHRDL1_ENST00000434224.1_Silent_p.F275F|CHRDL1_ENST00000394797.4_Silent_p.F354F|CHRDL1_ENST00000218054.4_Silent_p.F354F|CHRDL1_ENST00000444321.2_Silent_p.F355F|CHRDL1_ENST00000482160.1_Silent_p.F276F			Q9BU40	CRDL1_HUMAN	chordin-like 1	348					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATCCTCCATGAATACAGACT	0.478																																																	0													196	150	165					X																	109924798		2203	4300	6503	SO:0001819	synonymous_variant	91851			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1044C>T	X.37:g.109924798G>A			B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.F356	ENST00000372045.1	37	c.1068		X																																																																																			CHRDL1	-	NULL		0.478	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	HGNC	protein_coding	OTTHUMT00000057912.1	G	NM_145234		109924798	-1	no_errors	ENST00000372042	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109924798	G	A	109924798	2	1	117	1	0	0	0	0	0	0	0	1	3378	1281	45	1		1	CHRDL1	23	109924798	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1139017	109924798	45345762	1387	18855										
HTR2C	3358	genome.wustl.edu	37	chrX	114141786	114141786	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gtagagaaaaagcctcctgtCaggcagattccaagagttgc	11	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:114141786C>G	ENST00000276198.1	+	6	1913	c.1185C>G	c.(1183-1185)gtC>gtG	p.V395V	HTR2C_ENST00000371951.1_Silent_p.V395V|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	395					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCCTCCTGTCAGGCAGATTC	0.443																																																	0													81	83	82					X																	114141786		2203	4300	6503	SO:0001819	synonymous_variant	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1185C>G	X.37:g.114141786C>G			B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.V395	ENST00000276198.1	37	c.1185	CCDS14564.1	X																																																																																			HTR2C	-	prints_5HT2C_rcpt		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	C	NM_000868		114141786	1	no_errors	ENST00000276198	ensembl	human	known	70_37	silent	SNP	0.000	G	G	114141786	C	G	114141786	2	3	117	1	0	0	0	0	0	0	0	1	7463	813	29	1		1	HTR2C	23	114141786	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	4216988	114141786	41128774	1388	18856										
KIAA1210	57481	genome.wustl.edu	37	chrX	118222063	118222063	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aggcagcggttccacataagTgccttcctcaacagctgtgc	10	13	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:118222063T>G	ENST00000402510.2	-	11	3129	c.3130A>C	c.(3130-3132)Act>Cct	p.T1044P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1044										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCACATAAGTGCCTTCCTCA	0.517																																																	0													125	126	126					X																	118222063		2065	4189	6254	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3130A>C	X.37:g.118222063T>G	ENSP00000384670:p.Thr1044Pro		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.T1044P	ENST00000402510.2	37	c.3130	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.366462|1.366462	0.24771|0.24771	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10668	.|2.85	4.54|4.54	-0.599|-0.599	0.11645|0.11645	.|.	.|.	.|.	.|.	.|.	T|T	0.06280|0.06280	0.0162|0.0162	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P	.|0.49253	.|0.921	.|B	.|0.40659	.|0.336	T|T	0.38286|0.38286	-0.9668|-0.9668	5|8	.|.	.|.	.|.	.|.	7.401|7.401	0.26965|0.26965	0.0:0.4907:0.0:0.5093|0.0:0.4907:0.0:0.5093	.|.	.|1044	.|Q9ULL0	.|K1210_HUMAN	P|P	450|1044	.|ENSP00000384670:T1044P	.|.	H|T	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118106091|118106091	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.015000|-0.015000	0.12634|0.12634	-0.206000|-0.206000	0.10203|0.10203	-0.314000|-0.314000	0.08810|0.08810	CAC|ACT	KIAA1210	-	NULL		0.517	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	T	NM_020721		118222063	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.000	G	G	118222063	T	G	118222063	3	3	117	1	0	0	0	0	1	0	0	0	8234	1696	59	5	2015	5	KIAA1210	23	118222063	Missense_Mutation	SNP	T	TCGA-EK-A3GK-01A-11D-A20U-09	4080277	118222063	37048497	1389	18857										
CXorf56	63932	genome.wustl.edu	37	chrX	118699296	118699296	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gagtgtcagagcagactactGaccgagacactactttcggc	11	11	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:118699296G>C	ENST00000371594.4	-	1	101	c.23C>G	c.(22-24)tCa>tGa	p.S8*	CXorf56_ENST00000536133.1_Nonsense_Mutation_p.S8*|CXorf56_ENST00000320339.4_5'UTR	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	8										cervix(1)|endometrium(2)|lung(7)	10						GCAGACTACTGACCGAGACAC	0.552																																																	0													70	63	65					X																	118699296		2203	4300	6503	SO:0001587	stop_gained	63932			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.23C>G	X.37:g.118699296G>C	ENSP00000360652:p.Ser8*		A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Nonsense_Mutation	SNP	NULL	p.S8*	ENST00000371594.4	37	c.23	CCDS14579.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.609511	0.96637	.	.	ENSG00000018610	ENST00000486230;ENST00000371594;ENST00000536133;ENST00000476164	.	.	.	4.55	4.55	0.56014	.	0.125176	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.4544	15.5211	0.75866	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000360652:S8X	S	-	2	0	CXorf56	118583324	1.000000	0.71417	0.037000	0.18230	0.639000	0.38242	6.332000	0.72934	1.848000	0.53677	0.591000	0.81541	TCA	CXorf56	-	NULL		0.552	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		G	NM_022101		118699296	-1	no_errors	ENST00000371594	ensembl	human	known	70_37	nonsense	SNP	0.983	C	C	118699296	G	C	118699296	4	2	117	1	0	0	0	0	0	1	0	0	4117	1294	45	1	673	1	CXorf56	23	118699296	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	477233	118699296	36571264	1390	18858										
C1GALT1C1	29071	genome.wustl.edu	37	chrX	119760175	119760175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	catcacatgcatctgatttgGagtcagtccattaaaagtaa	7	8	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:119760175G>A	ENST00000304661.5	-	2	1085	c.847C>T	c.(847-849)Cca>Tca	p.P283S	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.P283S	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	283					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ATCTGATTTGGAGTCAGTCCA	0.413																																																	0													172	144	153					X																	119760175		2203	4300	6503	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.847C>T	X.37:g.119760175G>A	ENSP00000304364:p.Pro283Ser		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.P283S	ENST00000304661.5	37	c.847	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904250	0.52333	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.49139	0.79;0.79	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.69185	2.1	0.80722	D	1	B	0.24823	0.112	B	0.32583	0.148	T	0.47623	-0.9103	9	.	.	.	-16.5937	17.3879	0.87422	0.0:0.0:1.0:0.0	.	283	Q96EU7	C1GLC_HUMAN	S	283	ENSP00000304364:P283S;ENSP00000360363:P283S	.	P	-	1	0	C1GALT1C1	119644203	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	3.798000	0.55522	2.406000	0.81754	0.544000	0.68410	CCA	C1GALT1C1	-	NULL		0.413	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	G	NM_152692		119760175	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119760175	G	A	119760175	3	1	117	1	0	0	0	0	1	0	0	0	1958	1174	41	1	113	1	C1GALT1C1	23	119760175	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1060879	119760175	35510385	1391	18859										
GLUD2	2747	genome.wustl.edu	37	chrX	120182171	120182171	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ttcaccatggagctagcaaaGaagggctttattggtcctgg	12	8	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:120182171G>A	ENST00000328078.1	+	1	710	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	211					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCTAGCAAAGAAGGGCTTTA	0.483																																																	0													149	115	126					X																	120182171		2203	4300	6503	SO:0001819	synonymous_variant	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.633G>A	X.37:g.120182171G>A			B2R8G0|Q9UDQ4	Silent	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.K211	ENST00000328078.1	37	c.633	CCDS14603.1	X																																																																																			GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_dimer_dom		0.483	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	G	NM_012084		120182171	1	no_errors	ENST00000328078	ensembl	human	known	70_37	silent	SNP	1.000	A	A	120182171	G	A	120182171	2	1	117	1	0	0	0	0	0	0	0	1	6496	933	33	1		1	GLUD2	23	120182171	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	421996	120182171	35088389	1392	18860										
THOC2	57187	genome.wustl.edu	37	chrX	122778431	122778431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taaattaaaacttacttcatGatatatttggctctgtctat	4	6	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:122778431G>C	ENST00000245838.8	-	15	1687	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	THOC2_ENST00000355725.4_Missense_Mutation_p.I552M|THOC2_ENST00000491737.1_Missense_Mutation_p.I437M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	552					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTACTTCATGATATATTTGG	0.303																																																	0													68	56	60					X																	122778431		1789	4054	5843	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1656C>G	X.37:g.122778431G>C	ENSP00000245838:p.Ile552Met		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.I552M	ENST00000245838.8	37	c.1656	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889939	0.52014	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.84	3.91	0.45181	.	0.000000	0.64402	D	0.000004	T	0.78848	0.4348	M	0.86953	2.85	0.58432	D	0.999998	P;D	0.63880	0.747;0.993	B;D	0.66351	0.34;0.943	T	0.81686	-0.0820	9	0.66056	D	0.02	-6.5204	11.3751	0.49724	0.0785:0.0:0.7374:0.1841	.	473;552	B4DKZ6;Q8NI27	.;THOC2_HUMAN	M	552;552;437;473	.	ENSP00000245838:I552M	I	-	3	3	THOC2	122606112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.755000	0.26405	1.209000	0.43321	0.513000	0.50165	ATC	THOC2	-	NULL		0.303	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	G			122778431	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122778431	G	C	122778431	3	2	117	1	0	0	0	0	1	0	0	0	15895	1280	45	1	3221	1	THOC2	23	122778431	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2596260	122778431	32492129	1393	18861										
OCRL	4952	genome.wustl.edu	37	chrX	128722897	128722897	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tctgtggctgaagcactgctCattttcttggaagccctgcc	10	12	3	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:128722897C>G	ENST00000371113.4	+	22	2541	c.2376C>G	c.(2374-2376)ctC>ctG	p.L792L	OCRL_ENST00000357121.5_Silent_p.L784L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	792	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAGCACTGCTCATTTTCTTGG	0.542																																																	0													120	97	105					X																	128722897		2203	4300	6503	SO:0001819	synonymous_variant	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2376C>G	X.37:g.128722897C>G			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L792	ENST00000371113.4	37	c.2376	CCDS35393.1	X																																																																																			OCRL	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.542	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	C	NM_000276		128722897	1	no_errors	ENST00000371113	ensembl	human	known	70_37	silent	SNP	1.000	G	G	128722897	C	G	128722897	2	3	117	1	0	0	0	0	0	0	0	1	10847	813	29	1		1	OCRL	23	128722897	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	5944466	128722897	26547663	1394	18862										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130219941	130219941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccttggtgtttggatctgctCtcctgaaaaaaggaaagttt	10	7	2	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:130219941C>T	ENST00000276211.5	+	9	1504	c.1159C>T	c.(1159-1161)Ctc>Ttc	p.L387F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L375F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L251F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	387	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGGATCTGCTCTCCTGAAAAA	0.473																																																	0													243	229	234					X																	130219941		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1159C>T	X.37:g.130219941C>T	ENSP00000276211:p.Leu387Phe		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L387F	ENST00000276211.5	37	c.1159	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227640	0.39399	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.71	3.8	0.43715	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.39985	N	0.001201	T	0.69287	0.3094	M	0.85197	2.74	0.49582	D	0.999803	D;D;P	0.57257	0.979;0.979;0.922	P;P;P	0.54270	0.747;0.747;0.742	T	0.74607	-0.3609	10	0.87932	D	0	.	9.162	0.37028	0.215:0.785:0.0:0.0	.	356;375;387	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	387;375;356;251	ENSP00000276211:L387F;ENSP00000359960:L375F;ENSP00000408515:L356F;ENSP00000359959:L251F	ENSP00000276211:L387F	L	+	1	0	ARHGAP36	130047622	1.000000	0.71417	0.995000	0.50966	0.371000	0.29859	1.466000	0.35310	2.170000	0.68504	0.529000	0.55759	CTC	ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130219941	1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130219941	C	T	130219941	3	4	117	1	0	0	0	0	1	0	0	0	883	913	32	1	1189	1	ARHGAP36	23	130219941	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1497044	130219941	25050619	1395	18863										
IGSF1	3547	genome.wustl.edu	37	chrX	130409550	130409550	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aacgccccatgctagtaccaGatatattggtgatggggaat	11	8	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:130409550G>C	ENST00000361420.3	-	16	3165	c.3086C>G	c.(3085-3087)tCt>tGt	p.S1029C	IGSF1_ENST00000370903.3_Missense_Mutation_p.S1034C|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1020C|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.S1020C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1029	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCTAGTACCAGATATATTGGT	0.502																																																	0													140	117	125					X																	130409550		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3086C>G	X.37:g.130409550G>C	ENSP00000355010:p.Ser1029Cys		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1034C	ENST00000361420.3	37	c.3101	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373944	0.24857	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.32	4.45	0.53987	Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000301	T	0.39517	0.1081	M	0.80422	2.495	0.29709	N	0.839582	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.988;0.993;0.997	T	0.37103	-0.9720	10	0.87932	D	0	.	7.6787	0.28500	0.1108:0.0:0.8892:0.0	.	1020;473;1029	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1020;1029;1020;1034	ENSP00000359947:S1020C;ENSP00000355010:S1029C;ENSP00000359941:S1020C;ENSP00000359940:S1034C	ENSP00000355010:S1029C	S	-	2	0	IGSF1	130237231	0.899000	0.30636	0.934000	0.37439	0.006000	0.05464	1.838000	0.39211	2.562000	0.86427	0.600000	0.82982	TCT	IGSF1	-	smart_Ig_sub,smart_Ig_sub2		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	G			130409550	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	missense	SNP	0.949	C	C	130409550	G	C	130409550	3	2	117	1	0	0	0	0	1	0	0	0	7616	942	33	1	944	1	IGSF1	23	130409550	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	189609	130409550	24861010	1396	18864										
PLAC1	10761	genome.wustl.edu	37	chrX	133700283	133700283	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gaacacctcgtagcatttctCatccttctgggctgtggccc	9	14	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:133700283C>A	ENST00000359237.4	-	3	715	c.430G>T	c.(430-432)Gag>Tag	p.E144*	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TAGCATTTCTCATCCTTCTGG	0.557																																																	0													166	124	138					X																	133700283		2203	4300	6503	SO:0001587	stop_gained	10761			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.430G>T	X.37:g.133700283C>A	ENSP00000352173:p.Glu144*			Nonsense_Mutation	SNP	NULL	p.E144*	ENST00000359237.4	37	c.430	CCDS14642.1	X	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667503	0.67814	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.64	0.973	0.19710	.	0.909363	0.09034	N	0.858379	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.7573	6.3025	0.21121	0.0:0.5601:0.0:0.4399	.	.	.	.	X	144	.	ENSP00000352173:E144X	E	-	1	0	PLAC1	133527949	0.001000	0.12720	0.002000	0.10522	0.126000	0.20510	0.530000	0.23036	0.037000	0.15575	0.600000	0.82982	GAG	PLAC1	-	NULL		0.557	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAC1	HGNC	protein_coding	OTTHUMT00000058375.1	C	NM_021796		133700283	-1	no_errors	ENST00000359237	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	133700283	C	A	133700283	4	1	117	1	0	0	0	0	0	1	0	0	12036	835	29	3	212	3	PLAC1	23	133700283	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3290733	133700283	21570277	1397	18865										
FAM122B	159090	genome.wustl.edu	37	chrX	133923621	133923621	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	aaaatttacccttttgatctGatgcagtctgctactaggaa	7	8	2	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:133923621G>C	ENST00000370790.1	-	3	1106				FAM122B_ENST00000298090.6_Missense_Mutation_p.Q75E|FAM122B_ENST00000486347.1_Intron|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.Q75E	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTTTTGATCTGATGCAGTCTG	0.323																																																	0													103	81	88					X																	133923621		692	1591	2283	SO:0001627	intron_variant	159090			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.178-325C>G	X.37:g.133923621G>C			A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.Q75E	ENST00000370790.1	37	c.223	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446727	0.63178	.	.	ENSG00000156504	ENST00000298090;ENST00000343004	T;T	0.57107	0.42;0.42	5.97	5.09	0.68999	.	0.000000	0.64402	D	0.000007	T	0.69993	0.3173	M	0.88310	2.945	0.39025	D	0.959814	P;P;B	0.48694	0.914;0.587;0.433	P;B;B	0.51777	0.679;0.164;0.164	T	0.78409	-0.2215	10	0.87932	D	0	.	14.4436	0.67336	0.0:0.0:0.852:0.148	.	22;75;75	B4DN12;G1UD80;Q7Z309-3	.;.;.	E	75	ENSP00000298090:Q75E;ENSP00000339207:Q75E	ENSP00000298090:Q75E	Q	-	1	0	FAM122B	133751287	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.336000	0.65935	1.221000	0.43506	0.594000	0.82650	CAG	FAM122B	-	NULL		0.323	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	G	NM_145284		133923621	-1	no_errors	ENST00000343004	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133923621	G	C	133923621	1	2	117	0	1	0	0	0	0	0	0	0	5435	1299	45	1		1	FAM122B	23	133923621	Intron	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	223338	133923621	21346939	1398	18866										
CXorf48	54967	genome.wustl.edu	37	chrX	134292169	134292169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcttcacagaagttgccttGatgtttgagatgcctggctc	12	9	1	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:134292169G>C	ENST00000276241.6	-	4	718	c.492C>G	c.(490-492)atC>atG	p.I164M	CXorf48_ENST00000344129.2_Missense_Mutation_p.I164M	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		164										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AAGTTGCCTTGATGTTTGAGA	0.433																																																	0													120	107	111					X																	134292169		2203	4300	6503	SO:0001583	missense	54967																														ENST00000276241.6:c.492C>G	X.37:g.134292169G>C	ENSP00000276241:p.Ile164Met		Q9NWY8	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.I164M	ENST00000276241.6	37	c.492	CCDS35400.1	X	.	.	.	.	.	.	.	.	.	.	g	3.989	-0.004853	0.07773	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.53423	0.62;0.62	2.21	-1.8	0.07907	.	0.460841	0.15989	N	0.234923	T	0.34454	0.0898	L	0.38175	1.15	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.25398	-1.0133	10	0.49607	T	0.09	-13.5641	9.0529	0.36387	0.0:0.0:0.3952:0.6048	.	164	Q8WUE5	CX048_HUMAN	M	164	ENSP00000276241:I164M;ENSP00000343893:I164M	ENSP00000276241:I164M	I	-	3	3	CXorf48	134119835	0.016000	0.18221	0.000000	0.03702	0.091000	0.18340	-0.668000	0.05268	-0.536000	0.06298	0.279000	0.19357	ATC	CXorf48	-	NULL		0.433	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXorf48	HGNC	protein_coding	OTTHUMT00000058404.1	G			134292169	-1	no_errors	ENST00000276241	ensembl	human	known	70_37	missense	SNP	0.000	C	C	134292169	G	C	134292169	3	2	117	1	0	0	0	0	1	0	0	0	4116	1280	45	1	318	1	CXorf48	23	134292169	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	368548	134292169	20978391	1399	18867										
GPR112	139378	genome.wustl.edu	37	chrX	135488008	135488008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggcggaagatgatcctgcatGacctcaaaggcacaatgagc	12	10	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:135488008G>A	ENST00000394143.1	+	23	9103	c.8812G>A	c.(8812-8814)Gac>Aac	p.D2938N	GPR112_ENST00000412101.1_Missense_Mutation_p.D2733N|GPR112_ENST00000287534.4_Missense_Mutation_p.D2691N|GPR112_ENST00000394141.1_Missense_Mutation_p.D2733N|GPR112_ENST00000370652.1_Missense_Mutation_p.D2938N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2938					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATCCTGCATGACCTCAAAGG	0.438																																																	0													161	139	147					X																	135488008		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8812G>A	X.37:g.135488008G>A	ENSP00000377699:p.Asp2938Asn		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D2938N	ENST00000394143.1	37	c.8812	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861910	0.71949	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.71	4.71	0.59529	GPCR, family 2-like (1);	.	.	.	.	T	0.42268	0.1195	N	0.20685	0.6	0.36529	D	0.870633	D;P	0.55385	0.971;0.544	P;P	0.61477	0.889;0.676	T	0.40175	-0.9577	9	0.21014	T	0.42	.	11.3312	0.49477	0.0922:0.0:0.9078:0.0	.	2733;2938	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	N	2938;2938;2733;2691;2733	ENSP00000377699:D2938N;ENSP00000359686:D2938N;ENSP00000416526:D2733N;ENSP00000287534:D2691N;ENSP00000377697:D2733N	ENSP00000287534:D2691N	D	+	1	0	GPR112	135315674	1.000000	0.71417	0.707000	0.30419	0.904000	0.53231	5.366000	0.66122	2.061000	0.61500	0.600000	0.82982	GAC	GPR112	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	G			135488008	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.999	A	A	135488008	G	A	135488008	3	1	117	1	0	0	0	0	1	0	0	0	6648	1290	45	1	8890	1	GPR112	23	135488008	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	1195839	135488008	19782552	1400	18868										
FMR1	2332	genome.wustl.edu	37	chrX	147014007	147014007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	taagagaagatctgatgggtCtagctattggtactcatggt	12	5	3	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:147014007C>G	ENST00000370475.4	+	8	822	c.694C>G	c.(694-696)Cta>Gta	p.L232V	FMR1_ENST00000370477.1_Missense_Mutation_p.L232V|FMR1_ENST00000439526.2_Missense_Mutation_p.L232V|FMR1_ENST00000370471.3_Missense_Mutation_p.L232V|FMR1_ENST00000218200.8_Missense_Mutation_p.L232V|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000334557.6_Missense_Mutation_p.L232V|FMR1_ENST00000370470.1_Missense_Mutation_p.L232V	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	232	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGATGGGTCTAGCTATTGG	0.398									Fragile X syndrome																																								0													170	155	160					X																	147014007		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.694C>G	X.37:g.147014007C>G	ENSP00000359506:p.Leu232Val		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.L232V	ENST00000370475.4	37	c.694	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711256	0.68730	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.78	3.98	0.46160	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.99;0.997;0.997;0.982;0.993	T	0.60161	-0.7317	10	0.62326	D	0.03	-29.1861	9.6481	0.39881	0.0:0.7562:0.0:0.2438	.	232;232;148;232;232	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	V	232	ENSP00000218200:L232V;ENSP00000359502:L232V;ENSP00000359508:L232V;ENSP00000359506:L232V;ENSP00000355115:L232V;ENSP00000395923:L232V;ENSP00000359501:L232V	ENSP00000218200:L232V	L	+	1	2	FMR1	146821699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.924000	0.40065	1.183000	0.42943	0.538000	0.68166	CTA	FMR1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.398	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147014007	1	no_errors	ENST00000370475	ensembl	human	known	70_37	missense	SNP	1.000	G	G	147014007	C	G	147014007	3	3	117	1	0	0	0	0	1	0	0	0	5978	912	32	1	724	1	FMR1	23	147014007	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	11525999	147014007	8256553	1401	18869										
AFF2	2334	genome.wustl.edu	37	chrX	148037884	148037884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tggcagcaacaacaacttatCcatcagtaatgaagagccaa	7	10	1	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:148037884C>A	ENST00000370460.2	+	11	2788	c.2309C>A	c.(2308-2310)tCc>tAc	p.S770Y	AFF2_ENST00000342251.3_Missense_Mutation_p.S737Y|AFF2_ENST00000286437.5_Missense_Mutation_p.S411Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S737Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	770					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S770F(2)|p.S411F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACAACTTATCCATCAGTAAT	0.453																																																	3	Substitution - Missense(3)	kidney(3)											105	93	97					X																	148037884		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2309C>A	X.37:g.148037884C>A	ENSP00000359489:p.Ser770Tyr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S770Y	ENST00000370460.2	37	c.2309	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395967	0.25205	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.63	4.74	0.60224	.	1.500750	0.03598	N	0.233000	T	0.72260	0.3438	L	0.55990	1.75	0.09310	N	1	P;P;P;P;P;P	0.37612	0.602;0.547;0.547;0.547;0.547;0.602	P;B;B;B;B;P	0.48524	0.58;0.444;0.444;0.444;0.444;0.58	T	0.57911	-0.7729	10	0.72032	D	0.01	.	11.1182	0.48273	0.1436:0.7209:0.1355:0.0	.	411;735;737;731;760;770	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	770;737;737;411	ENSP00000359489:S770Y;ENSP00000359486:S737Y;ENSP00000345459:S737Y;ENSP00000286437:S411Y	ENSP00000286437:S411Y	S	+	2	0	AFF2	147845584	0.065000	0.20965	0.012000	0.15200	0.324000	0.28378	2.798000	0.47884	1.087000	0.41251	0.600000	0.82982	TCC	AFF2	-	pfam_TF_AF4/FMR2		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	C	NM_002025		148037884	1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	0.006	A	A	148037884	C	A	148037884	3	1	117	1	0	0	0	0	1	0	0	0	357	855	30	3	2406	3	AFF2	23	148037884	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	1023877	148037884	7232676	1402	18870										
GABRQ	55879	genome.wustl.edu	37	chrX	151818973	151818973	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	caagtctactggcctactgtCctcaccactattacctcttg	5	15	3	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:151818973C>T	ENST00000370306.2	+	7	851	c.831C>T	c.(829-831)gtC>gtT	p.V277V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	277					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.V277V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACTGTCCTCACCACTA	0.473																																																	1	Substitution - coding silent(1)	lung(1)											371	302	326					X																	151818973		2203	4300	6503	SO:0001819	synonymous_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.831C>T	X.37:g.151818973C>T			A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V277	ENST00000370306.2	37	c.831	CCDS14707.1	X																																																																																			GABRQ	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.473	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	C	NM_018558		151818973	1	no_errors	ENST00000370306	ensembl	human	known	70_37	silent	SNP	0.999	T	T	151818973	C	T	151818973	2	4	117	1	0	0	0	0	0	0	0	1	6193	842	30	1		1	GABRQ	23	151818973	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	3781089	151818973	3451587	1403	18871										
ATP2B3	492	genome.wustl.edu	37	chrX	152806980	152806980	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gccatcgtctctctgggcctCtcgttctatgcgccgccagg	11	16	4	0	rs377140065		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:152806980C>G	ENST00000349466.2	+	3	698	c.372C>G	c.(370-372)ctC>ctG	p.L124L	ATP2B3_ENST00000359149.3_Silent_p.L124L|ATP2B3_ENST00000393842.1_Silent_p.L124L|ATP2B3_ENST00000370186.1_Silent_p.L124L|ATP2B3_ENST00000263519.4_Silent_p.L124L|ATP2B3_ENST00000370181.2_Silent_p.L124L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	124					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGGCCTCTCGTTCTATG	0.627																																																	0													102	86	91					X																	152806980		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.372C>G	X.37:g.152806980C>G			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L124	ENST00000349466.2	37	c.372	CCDS35440.1	X																																																																																			ATP2B3	-	smart_ATPase_P-typ_cation-transptr_N		0.627	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152806980	1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	0.546	G	G	152806980	C	G	152806980	2	3	117	1	0	0	0	0	0	0	0	1	1142	900	32	1		1	ATP2B3	23	152806980	Silent	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	988007	152806980	2463580	1404	18872										
SLC6A8	6535	genome.wustl.edu	37	chrX	152954237	152954237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tgtcgtgcgtgggcttcgccGtgggcttgggcaacgtgtgg	19	9	0	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:152954237G>T	ENST00000253122.5	+	1	684	c.208G>T	c.(208-210)Gtg>Ttg	p.V70L	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	70					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GGGCTTCGCCGTGGGCTTGGG	0.736																																																	0													31	25	27					X																	152954237		2199	4298	6497	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.208G>T	X.37:g.152954237G>T	ENSP00000253122:p.Val70Leu		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.V70L	ENST00000253122.5	37	c.208	CCDS14726.1	X	.	.	.	.	.	.	.	.	.	.	N	20.2	3.955576	0.73902	.	.	ENSG00000130821	ENST00000253122	D	0.81996	-1.56	2.47	1.57	0.23409	.	.	.	.	.	D	0.91297	0.7256	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.976;0.989	D	0.88684	0.3204	9	0.87932	D	0	.	6.6711	0.23068	0.1637:0.0:0.8363:0.0	.	89;70	Q59EV7;P48029	.;SC6A8_HUMAN	L	70	ENSP00000253122:V70L	ENSP00000253122:V70L	V	+	1	0	SLC6A8	152607431	0.462000	0.25791	0.998000	0.56505	0.988000	0.76386	0.705000	0.25675	0.151000	0.19162	0.447000	0.29281	GTG	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.736	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	G			152954237	1	no_errors	ENST00000253122	ensembl	human	known	70_37	missense	SNP	0.994	T	T	152954237	G	T	152954237	3	4	117	1	0	0	0	0	1	0	0	0	14720	1145	40	2	210	2	SLC6A8	23	152954237	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	147257	152954237	2316323	1405	18873										
SRPK3	26576	genome.wustl.edu	37	chrX	153049643	153049643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ggctcgtccaatcagcgagaGaccgggggcctcctgtcgcc	14	15	1	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153049643G>C	ENST00000370101.3	+	10	1168	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	SRPK3_ENST00000370100.1_Missense_Mutation_p.E299D|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000393786.3_Missense_Mutation_p.E340D|SRPK3_ENST00000370104.1_Missense_Mutation_p.E373D|SRPK3_ENST00000489426.1_Missense_Mutation_p.E441D|SRPK3_ENST00000370108.3_Missense_Mutation_p.E341D	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGCGAGAGACCGGGGGCC	0.647																																					Esophageal Squamous(167;766 3400 32156)												0													40	39	39					X																	153049643		2202	4300	6502	SO:0001583	missense	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1122G>C	X.37:g.153049643G>C	ENSP00000359119:p.Glu374Asp		Q13583|Q4F970|Q562F5|Q9UM62	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,pfscan_Prot_kinase_cat_dom	p.E374D	ENST00000370101.3	37	c.1122	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477860	0.12521	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.56103	0.53;0.51;0.54;0.52;0.54;0.48	4.72	2.96	0.34315	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117949	0.36932	N	0.002328	T	0.30479	0.0766	N	0.16066	0.365	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.001;0.001;0.0;0.006	B;B;B;B;B	0.08055	0.002;0.002;0.002;0.001;0.003	T	0.15954	-1.0419	10	0.16896	T	0.51	-33.9217	9.4176	0.38530	0.1824:0.0:0.8176:0.0	.	298;373;340;374;441	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	D	441;340;373;341;374;299	ENSP00000420058:E441D;ENSP00000377376:E340D;ENSP00000359122:E373D;ENSP00000359126:E341D;ENSP00000359119:E374D;ENSP00000359118:E299D	ENSP00000359118:E299D	E	+	3	2	SRPK3	152702837	0.943000	0.32029	0.033000	0.17914	0.338000	0.28826	1.351000	0.34022	0.445000	0.26639	0.529000	0.55759	GAG	SRPK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.647	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	G	NM_014370		153049643	1	no_errors	ENST00000370101	ensembl	human	known	70_37	missense	SNP	0.229	C	C	153049643	G	C	153049643	3	2	117	1	0	0	0	0	1	0	0	0	15191	933	33	1	1160	1	SRPK3	23	153049643	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	95406	153049643	2220917	1406	18874										
IDH3G	3421	genome.wustl.edu	37	chrX	153051683	153051683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	tcacattctcattgtccatgGatgccaggacagccttacgg	9	12	2	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153051683G>A	ENST00000217901.5	-	12	1260	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000370092.3_Missense_Mutation_p.S355F|IDH3G_ENST00000427365.2_Missense_Mutation_p.S297F	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	355					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTCCATGGATGCCAGGAC	0.652																																																	0													90	77	81					X																	153051683		2203	4299	6502	SO:0001583	missense	3421				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.1064C>T	X.37:g.153051683G>A	ENSP00000217901:p.Ser355Phe		E9PDD5|Q9BUU5	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S355F	ENST00000217901.5	37	c.1064	CCDS14730.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.0|21.0	4.083159|4.083159	0.76642|0.76642	.|.	.|.	ENSG00000067829|ENSG00000067829	ENST00000424541|ENST00000370092;ENST00000217901;ENST00000427365;ENST00000393771	.|T;T;T	.|0.69435	.|-0.4;-0.4;-0.4	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Isopropylmalate dehydrogenase-like domain (2);	.|0.057170	.|0.64402	.|D	.|0.000001	T|T	0.81226|0.81226	0.4778|0.4778	M|M	0.79805|0.79805	2.47|2.47	0.51012|0.51012	D|D	0.999902|0.999902	.|P;D;D	.|0.60575	.|0.903;0.988;0.973	.|P;D;P	.|0.63703	.|0.532;0.917;0.877	D|D	0.84133|0.84133	0.0413|0.0413	5|10	.|0.87932	.|D	.|0	.|.	15.1643|15.1643	0.72811|0.72811	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|251;355;355	.|E9PCL6;E9PDD5;P51553	.|.;.;IDH3G_HUMAN	S|F	117|355;355;297;251	.|ENSP00000359110:S355F;ENSP00000217901:S355F;ENSP00000408529:S297F	.|ENSP00000217901:S355F	P|S	-|-	1|2	0|0	IDH3G|IDH3G	152704877|152704877	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.673000|0.673000	0.39480|0.39480	4.589000|4.589000	0.61006|0.61006	2.285000|2.285000	0.76669|0.76669	0.431000|0.431000	0.28591|0.28591	CCA|TCC	IDH3G	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.652	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	G			153051683	-1	no_errors	ENST00000217901	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153051683	G	A	153051683	3	1	117	1	0	0	0	0	1	0	0	0	7518	1174	41	1	188	1	IDH3G	23	153051683	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	2040	153051683	2218877	1407	18875										
ARHGAP4	393	genome.wustl.edu	37	chrX	153186187	153186187	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccggcctgcccgcttctcctCctgccgctcggcctcccgga	10	22	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153186187C>A	ENST00000350060.5	-	5	615	c.574G>T	c.(574-576)Gag>Tag	p.E192*	ARHGAP4_ENST00000370016.1_Nonsense_Mutation_p.E171*|ARHGAP4_ENST00000370028.3_Nonsense_Mutation_p.E192*|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Nonsense_Mutation_p.E169*	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	192					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|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)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTCTCCTCCTGCCGCTCG	0.657																																																	0													50	47	48					X																	153186187		2203	4299	6502	SO:0001587	stop_gained	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.574G>T	X.37:g.153186187C>A	ENSP00000203786:p.Glu192*		Q14144|Q86UY3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E192*	ENST00000350060.5	37	c.574	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.801278|5.801278	0.96960|0.96960	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091|ENST00000418750	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.45361|.	D|.	0.000369|.	.|T	.|0.74786	.|0.3762	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79538	.|-0.1762	.|4	0.44086|0.56958	T|D	0.13|0.05	.|.	16.5026|16.5026	0.84261|0.84261	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	192;192;171;169;169;169|39	.|.	ENSP00000203786:E192X|ENSP00000385042:G201V	E|G	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839381|152839381	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.888000|0.888000	0.51559|0.51559	7.430000|7.430000	0.80321|0.80321	2.355000|2.355000	0.79922|0.79922	0.529000|0.529000	0.55759|0.55759	GAG|GGA	ARHGAP4	-	NULL		0.657	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153186187	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	153186187	C	A	153186187	4	1	117	1	0	0	0	0	0	1	0	0	885	864	30	3	2462	3	ARHGAP4	23	153186187	Nonsense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	134504	153186187	2084373	1408	18876										
IRAK1	3654	genome.wustl.edu	37	chrX	153282449	153282449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	gctgtcctgatgtagaaactGaattgcccgggctgtaccca	11	11	0	3			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153282449G>A	ENST00000369980.3	-	8	1146	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q327*|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q353*|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q353*|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q327*	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGAAACTGAATTGCCCGG	0.637																																																	0													105	98	100					X																	153282449		2203	4300	6503	SO:0001587	stop_gained	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.979C>T	X.37:g.153282449G>A	ENSP00000358997:p.Gln327*		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q327*	ENST00000369980.3	37	c.979	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	41|41	8.648120|8.648120	0.98899|0.98899	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.288301|.	0.25472|.	N|.	0.030437|.	.|T	.|0.71256	.|0.3318	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74728	.|-0.3567	.|3	0.48119|.	T|.	0.1|.	-20.7514|-20.7514	16.043|16.043	0.80698|0.80698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	327;327;353;327;353|97	.|.	ENSP00000358991:Q327X|.	Q|S	-|-	1|2	0|0	IRAK1|IRAK1	152935643|152935643	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.901000|0.901000	0.52897|0.52897	8.017000|8.017000	0.88712|0.88712	2.035000|2.035000	0.60131|0.60131	0.529000|0.529000	0.55759|0.55759	CAG|TCA	IRAK1	-	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		0.637	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	G			153282449	-1	no_errors	ENST00000369980	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	153282449	G	A	153282449	4	1	117	1	0	0	0	0	0	1	0	0	7841	1299	45	1	1187	1	IRAK1	23	153282449	Nonsense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	96262	153282449	1988111	1409	18877										
FLNA	2316	genome.wustl.edu	37	chrX	153590069	153590069	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	ccagacaccttgatcttgctGaggtccaggcttggagatac	11	11	1	4			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153590069G>A	ENST00000369850.3	-	20	3149	c.2913C>T	c.(2911-2913)ctC>ctT	p.L971L	FLNA_ENST00000422373.1_Silent_p.L971L|FLNA_ENST00000344736.4_Silent_p.L971L|FLNA_ENST00000360319.4_Silent_p.L971L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	971					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATCTTGCTGAGGTCCAGGC	0.557																																																	0													99	97	97					X																	153590069		1982	4144	6126	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2913C>T	X.37:g.153590069G>A			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.L971	ENST00000369850.3	37	c.2913	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.557	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153590069	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153590069	G	A	153590069	2	1	117	1	0	0	0	0	0	0	0	1	5951	1277	45	1		1	FLNA	23	153590069	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	307620	153590069	1680491	1410	18878										
DNASE1L1	1774	genome.wustl.edu	37	chrX	153631423	153631423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	cactgtggtgtcctccccatCggcaatcacccagtggaagc	10	15	1	0			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153631423C>T	ENST00000393638.1	-	7	920	c.634G>A	c.(634-636)Gat>Aat	p.D212N	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D212N	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	212					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTCCCCATCGGCAATCACC	0.642																																																	0													58	56	57					X																	153631423		2203	4300	6503	SO:0001583	missense	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.634G>A	X.37:g.153631423C>T	ENSP00000377255:p.Asp212Asn		D3DWW7|Q5HY41	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.D212N	ENST00000393638.1	37	c.634	CCDS14747.1	X	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958374	0.92726	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.11	5.11	0.69529	Endonuclease/exonuclease/phosphatase (2);	0.050660	0.85682	D	0.000000	T	0.65375	0.2685	M	0.77820	2.39	0.46954	D	0.999262	D	0.89917	1.0	D	0.80764	0.994	T	0.70608	-0.4825	10	0.87932	D	0	-10.9846	14.9165	0.70801	0.0:1.0:0.0:0.0	.	212	P49184	DNSL1_HUMAN	N	212	ENSP00000358824:D212N;ENSP00000377255:D212N;ENSP00000014935:D212N;ENSP00000358823:D212N;ENSP00000358822:D212N;ENSP00000309168:D212N	ENSP00000014935:D212N	D	-	1	0	DNASE1L1	153284617	0.999000	0.42202	0.019000	0.16419	0.735000	0.41995	4.794000	0.62482	2.106000	0.64143	0.597000	0.82753	GAT	DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk		0.642	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	C			153631423	-1	no_errors	ENST00000014935	ensembl	human	known	70_37	missense	SNP	0.927	T	T	153631423	C	T	153631423	3	4	117	1	0	0	0	0	1	0	0	0	4671	884	31	1	282	1	DNASE1L1	23	153631423	Missense_Mutation	SNP	C	TCGA-EK-A3GK-01A-11D-A20U-09	41354	153631423	1639137	1411	18879										
PLXNA3	55558	genome.wustl.edu	37	chrX	153696205	153696205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	atgatggggctggcggcgggGggtgggctcctgctgctggc	22	9	0	1			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153696205G>A	ENST00000369682.3	+	21	3856	c.3681G>A	c.(3679-3681)ggG>ggA	p.G1227G		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1227					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCGGCGGGGGGTGGGCTCC	0.682																																																	0													20	24	22					X																	153696205		2183	4253	6436	SO:0001819	synonymous_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3681G>A	X.37:g.153696205G>A			Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1227	ENST00000369682.3	37	c.3681	CCDS14752.1	X																																																																																			PLXNA3	-	NULL		0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153696205	1	no_errors	ENST00000369682	ensembl	human	known	70_37	silent	SNP	0.340	A	A	153696205	G	A	153696205	2	1	117	1	0	0	0	0	0	0	0	1	12145	1219	43	4		4	PLXNA3	23	153696205	Silent	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	64782	153696205	1574355	1412	18880										
F8A2	8263	genome.wustl.edu	37	chrX	154115559	154115559	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.641833810888252	896	0	4.51126561868082	5.22820160308988	3.9433033453178	0.337821894295156	0.569890847767481	697	agtactcctgggaggcttttGacagccacgggcaggagagc	15	10	0	2			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:154115559G>C	ENST00000369446.2	+	1	925	c.910G>C	c.(910-912)Gac>Cac	p.D304H	F8_ENST00000360256.4_Intron|MIR1184-1_ENST00000408606.1_RNA|F8_ENST00000330287.6_5'Flank	NM_012151.3	NP_036283.2	P23610	F8I2_HUMAN	coagulation factor VIII-associated 1	304						nucleus (GO:0005634)				endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGGCTTTTGACAGCCACGG	0.637																																																	0													1	1	1					X																	154115559		13	154	167	SO:0001583	missense	8263			M34677	CCDS35459.1	Xq28	2014-01-28	2011-04-13	2004-11-02	ENSG00000197932	ENSG00000277203			3547	protein-coding gene	gene with protein product		305423	"coagulation factor VIII-associated (intronic transcript) 1"	F8A		2110545	Standard	NM_012151		Approved	DXS522E	uc004fmv.3	P23610	OTTHUMG00000013500	ENST00000369446.2:c.910G>C	X.37:g.154115559G>C	ENSP00000358456:p.Asp304His		Q5HY66|Q8IXP3	Missense_Mutation	SNP	NULL	p.D304H	ENST00000369446.2	37	c.910	CCDS35459.1	X	.	.	.	.	.	.	.	.	.	.	g	15.51	2.854880	0.51376	.	.	ENSG00000197932	ENST00000369446	T	0.21932	1.98	2.41	2.41	0.29592	.	0.066879	0.56097	U	0.000023	T	0.38321	0.1036	M	0.62723	1.935	0.24644	N	0.993554	D	0.76494	0.999	D	0.71656	0.974	T	0.04781	-1.0927	10	0.72032	D	0.01	-34.2489	10.1845	0.42988	0.0:0.0:1.0:0.0	.	304	P23610	F8I2_HUMAN	H	304	ENSP00000358456:D304H	ENSP00000358456:D304H	D	+	1	0	F8A1	153768753	0.997000	0.39634	0.864000	0.33941	0.944000	0.59088	5.060000	0.64312	1.505000	0.48720	0.478000	0.44815	GAC	F8A1	-	NULL		0.637	F8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8A1	HGNC	protein_coding	OTTHUMT00000037637.2	G	NM_012151		154115559	1	no_errors	ENST00000369446	ensembl	human	known	70_37	missense	SNP	0.134	C	C	154115559	G	C	154115559	3	2	117	1	0	0	0	0	1	0	0	0	5364	1290	45	1	912	1	F8A2	23	154115559	Missense_Mutation	SNP	G	TCGA-EK-A3GK-01A-11D-A20U-09	419354	154115559	1155001	1413	18881										
ATAD3A	55210	genome.wustl.edu	37	chr1	1454334	1454334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aggagaatttacggaagcagGaggagtccgtgcagaagcag	16	6	0	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:1454334G>A	ENST00000378755.5	+	5	716	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ATAD3A_ENST00000378756.3_Missense_Mutation_p.E160K|ATAD3A_ENST00000536055.1_Missense_Mutation_p.E81K	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	208					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACGGAAGCAGGAGGAGTCCGT	0.587																																																	0													90	78	82					1																	1454334		2202	4292	6494	SO:0001583	missense	55210			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.622G>A	1.37:g.1454334G>A	ENSP00000368030:p.Glu208Lys		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E208K	ENST00000378755.5	37	c.622	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.5|24.5	4.537794|4.537794	0.85917|0.85917	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957|ENST00000339113	T;T;T|.	0.17054|.	2.3;2.33;2.98|.	3.68|3.68	3.68|3.68	0.42216|0.42216	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84174|0.84174	0.5414|0.5414	M|M	0.92691|0.92691	3.335|3.335	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.63046|.	0.986;0.992|.	D;D|.	0.67548|.	0.923;0.952|.	D|D	0.88804|0.88804	0.3287|0.3287	10|5	0.87932|.	D|.	0|.	.|.	14.8162|14.8162	0.70036|0.70036	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	160;208|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	K|E	160;208;81;42|145	ENSP00000368031:E160K;ENSP00000368030:E208K;ENSP00000439290:E81K|.	ENSP00000368030:E208K|.	E|G	+|+	1|2	0|0	ATAD3A|ATAD3A	1444197|1444197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.779000|0.779000	0.44077|0.44077	8.267000|8.267000	0.89874|0.89874	1.776000|1.776000	0.52262|0.52262	0.499000|0.499000	0.49734|0.49734	GAG|GGA	ATAD3A	-	pfam_DUF3523		0.587	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	G	NM_018188		1454334	1	no_errors	ENST00000378755	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1454334	G	A	1454334	3	1	118	1	0	0	0	0	1	0	0	0	1074	1175	41	1	640	1	ATAD3A	1	1454334	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		1454334	247796287	1	18882										
PRDM16	63976	genome.wustl.edu	37	chr1	3102760	3102760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccagccacagcgcggaggacGaggccgaggacagtgccatg	16	13	0	0	rs369539275		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:3102760G>A	ENST00000270722.5	+	2	158	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PRDM16_ENST00000442529.2_Missense_Mutation_p.E37K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E37K|PRDM16_ENST00000378398.3_Missense_Mutation_p.E37K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E37K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E37K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E37K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	37					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCGGAGGACGAGGCCGAGGA	0.637			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								G	LYS/GLU,LYS/GLU	0,4350		0,0,2175	47	62	57		109,109	4.2	1	1		57	1,8503		0,1,4251	no	missense,missense	PRDM16	NM_022114.3,NM_199454.2	56,56	0,1,6426	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	37/1277,37/1258	3102760	1,12853	2175	4252	6427	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.109G>A	1.37:g.3102760G>A	ENSP00000270722:p.Glu37Lys		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E37K	ENST00000270722.5	37	c.109	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292309	0.59976	0.0	1.18E-4	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.1	4.16	0.48862	.	0.000000	0.44902	U	0.000419	T	0.42200	0.1192	L	0.44542	1.39	0.42919	D	0.994289	D;D;D;D	0.71674	0.985;0.991;0.998;0.985	B;P;P;B	0.56751	0.265;0.452;0.805;0.265	T	0.40421	-0.9564	10	0.66056	D	0.02	.	15.2018	0.73142	0.0:0.1417:0.8583:0.0	.	37;37;37;37	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	37	ENSP00000426975:E37K;ENSP00000367651:E37K;ENSP00000407968:E37K;ENSP00000405253:E37K;ENSP00000367643:E37K;ENSP00000421400:E37K;ENSP00000270722:E37K	ENSP00000270722:E37K	E	+	1	0	PRDM16	3092620	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.875000	0.75551	1.084000	0.41184	0.561000	0.74099	GAG	PRDM16	-	NULL		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3102760	1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3102760	G	A	3102760	3	1	118	1	0	0	0	0	1	0	0	0	12484	1059	37	1	115	1	PRDM16	1	3102760	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1648426	3102760	246147861	2	18883										
GPR153	387509	genome.wustl.edu	37	chr1	6313808	6313808	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aagcccatgaggcagtcgtaGatgaagactatggtggtcac	13	8	1	4			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:6313808G>T	ENST00000377893.2	-	3	1015	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGCAGTCGTAGATGAAGACTA	0.647																																																	0													102	104	104					1																	6313808		2203	4300	6503	SO:0001819	synonymous_variant	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.756C>A	1.37:g.6313808G>T			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.I252	ENST00000377893.2	37	c.756	CCDS64.1	1																																																																																			GPR153	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162		0.647	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6313808	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	silent	SNP	0.999	T	T	6313808	G	T	6313808	2	4	118	1	0	0	0	0	0	0	0	1	6678	932	33	3		3	GPR153	1	6313808	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	3211048	6313808	242936813	3	18884										
GPR153	387509	genome.wustl.edu	37	chr1	6314904	6314904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cccaggcattggccagcaggGagaggcccccacataccagc	12	16	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:6314904G>A	ENST00000377893.2	-	2	321	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGCCAGCAGGGAGAGGCCCCC	0.652																																																	0													41	46	44					1																	6314904		2203	4300	6503	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.62C>T	1.37:g.6314904G>A	ENSP00000367125:p.Ser21Phe		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.S21F	ENST00000377893.2	37	c.62	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952833	0.53293	.	.	ENSG00000158292	ENST00000377893	T	0.40225	1.04	5.42	4.51	0.55191	.	0.056769	0.64402	N	0.000001	T	0.32852	0.0843	L	0.29908	0.895	0.53688	D	0.999972	B	0.16802	0.019	B	0.17098	0.017	T	0.10291	-1.0636	10	0.54805	T	0.06	-30.4417	13.035	0.58864	0.0788:0.0:0.9212:0.0	.	21	Q6NV75	GP153_HUMAN	F	21	ENSP00000367125:S21F	ENSP00000367125:S21F	S	-	2	0	GPR153	6237491	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.897000	0.87356	1.280000	0.44463	0.557000	0.71058	TCC	GPR153	-	prints_GPCR_153/162		0.652	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6314904	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6314904	G	A	6314904	3	1	118	1	0	0	0	0	1	0	0	0	6678	1174	41	1	1787	1	GPR153	1	6314904	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1096	6314904	242935717	4	18885										
ARID1A	8289	genome.wustl.edu	37	chr1	27057981	27057982	+	Frame_Shift_Ins	INS	-	-	CAACC													0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agtctccttaccagcagcagINScaacctcagcagccagcacc							TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:27057981_27057982insCAACC	ENST00000324856.7	+	3	2060_2061	c.1689_1690insCAACC	c.(1690-1692)caafs	p.-565fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-182fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-565fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCAGCAGCAGCAACCTCAGCA	0.644			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1690_1694dupCAACC	1.37:g.27057982_27057986dupCAACC	ENSP00000320485:p.Pro565fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q565fs	ENST00000324856.7	37	c.1689_1690	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.644	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	NM_139135		27057982	1	no_errors	ENST00000324856	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CAACC	CAACC	27057982	-	CAACC	27057981	7	5	118	1	0	1	1	0	0	0	0	0	913	962	34	0	1699	0	ARID1A	1	27057981	Frame_Shift_Ins	INS	-	TCGA-EK-A3GM-01A-11D-A20U-09	20743077	27057981	222192640	5	18886										
SESN2	83667	genome.wustl.edu	37	chr1	28595719	28595719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gagggagagccgggctcggcGaggccctcgagggcccagcg	20	13	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:28595719G>A	ENST00000253063.3	+	2	437	c.116G>A	c.(115-117)cGa>cAa	p.R39Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	39					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCGGCGAGGCCCTCGA	0.557																																																	0													56	61	59					1																	28595719		2203	4300	6503	SO:0001583	missense	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.116G>A	1.37:g.28595719G>A	ENSP00000253063:p.Arg39Gln		Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.R39Q	ENST00000253063.3	37	c.116	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902465	0.52227	.	.	ENSG00000130766	ENST00000253063	T	0.17691	2.26	5.38	3.47	0.39725	.	0.458431	0.22416	N	0.060354	T	0.08044	0.0201	N	0.08118	0	0.30334	N	0.786337	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.25751	T	0.34	-2.0243	8.7969	0.34885	0.2331:0.0:0.7669:0.0	.	39	P58004	SESN2_HUMAN	Q	39	ENSP00000253063:R39Q	ENSP00000253063:R39Q	R	+	2	0	SESN2	28468306	0.528000	0.26314	0.971000	0.41717	0.881000	0.50899	1.447000	0.35101	1.253000	0.44018	0.655000	0.94253	CGA	SESN2	-	NULL		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	G			28595719	1	no_errors	ENST00000253063	ensembl	human	known	70_37	missense	SNP	0.893	A	A	28595719	G	A	28595719	3	1	118	1	0	0	0	0	1	0	0	0	14155	1058	37	1	122	1	SESN2	1	28595719	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1537738	28595719	220654902	6	18887										
SLFNL1	200172	genome.wustl.edu	37	chr1	41481881	41481881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcatcttctcttccagcttgCccagctccaccagccacctc	4	20	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:41481881C>T	ENST00000359345.1	-	4	3697	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	SLFNL1_ENST00000372613.2_Missense_Mutation_p.G326D|SLFNL1_ENST00000372611.1_Missense_Mutation_p.G315D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G374D|SLFNL1_ENST00000397197.2_Missense_Mutation_p.G326D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G374D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	374							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TTCCAGCTTGCCCAGCTCCAC	0.632																																																	0													87	81	83					1																	41481881		2203	4300	6503	SO:0001583	missense	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.1121G>A	1.37:g.41481881C>T	ENSP00000352299:p.Gly374Asp		A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.G374D	ENST00000359345.1	37	c.1121	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489964	0.44249	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.21734	1.99;2.01;2.01;1.99;1.99;2.01	5.25	3.07	0.35406	.	1.098180	0.06986	N	0.820831	T	0.12178	0.0296	N	0.08118	0	0.28820	N	0.897738	B;P;P	0.46142	0.037;0.873;0.845	B;P;B	0.44990	0.018;0.466;0.348	T	0.10730	-1.0617	10	0.22109	T	0.4	-10.0212	4.0362	0.09730	0.0:0.5996:0.2501:0.1504	.	326;315;374	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	D	374;326;315;374;374;326	ENSP00000304401:G374D;ENSP00000361696:G326D;ENSP00000361694:G315D;ENSP00000352299:G374D;ENSP00000398938:G374D;ENSP00000380381:G326D	ENSP00000304401:G374D	G	-	2	0	SLFNL1	41254468	0.170000	0.23016	0.998000	0.56505	0.981000	0.71138	0.329000	0.19698	1.178000	0.42870	0.561000	0.74099	GGC	SLFNL1	-	NULL		0.632	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1	C	NM_144990		41481881	-1	no_errors	ENST00000302946	ensembl	human	known	70_37	missense	SNP	0.979	T	T	41481881	C	T	41481881	3	4	118	1	0	0	0	0	1	0	0	0	14768	739	26	4	106	4	SLFNL1	1	41481881	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	12886162	41481881	207768740	7	18888										
MCOLN3	55283	genome.wustl.edu	37	chr1	85510918	85510918	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggattcatgaaaaaaaatttGagttttcgcctcatctggtc	8	7	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:85510918G>C	ENST00000370589.2	-	2	178	c.126C>G	c.(124-126)ctC>ctG	p.L42L	MCOLN3_ENST00000341115.4_Silent_p.L42L|MCOLN3_ENST00000370587.1_Silent_p.L42L|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	42					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AAAAAAATTTGAGTTTTCGCC	0.408																																																	0													81	81	81					1																	85510918		2203	4300	6503	SO:0001819	synonymous_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.126C>G	1.37:g.85510918G>C			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.L42	ENST00000370589.2	37	c.126	CCDS701.1	1																																																																																			MCOLN3	-	NULL		0.408	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	G	NM_018298		85510918	-1	no_errors	ENST00000302814	ensembl	human	known	70_37	silent	SNP	1.000	C	C	85510918	G	C	85510918	2	2	118	1	0	0	0	0	0	0	0	1	9420	1277	45	1		1	MCOLN3	1	85510918	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	44029037	85510918	163739703	8	18889										
MCOLN3	55283	genome.wustl.edu	37	chr1	85510984	85510984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gatgtttgctggttaaaattGcagcgattttcctcttcatg	9	7	2	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:85510984G>A	ENST00000370589.2	-	2	112	c.60C>T	c.(58-60)tgC>tgT	p.C20C	MCOLN3_ENST00000341115.4_Silent_p.C20C|MCOLN3_ENST00000370587.1_Silent_p.C20C|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	20					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTAAAATTGCAGCGATTTT	0.403																																																	0													58	57	57					1																	85510984		2203	4300	6503	SO:0001819	synonymous_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.60C>T	1.37:g.85510984G>A			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.C20	ENST00000370589.2	37	c.60	CCDS701.1	1																																																																																			MCOLN3	-	NULL		0.403	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	G	NM_018298		85510984	-1	no_errors	ENST00000302814	ensembl	human	known	70_37	silent	SNP	0.267	A	A	85510984	G	A	85510984	2	1	118	1	0	0	0	0	0	0	0	1	9420	1311	46	4		4	MCOLN3	1	85510984	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	66	85510984	163739637	9	18890										
TDRD10	126668	genome.wustl.edu	37	chr1	154516899	154516899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcaccctggctcaggcggagGagcagcagccctacctggag	15	14	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:154516899G>A	ENST00000368480.3	+	10	788	c.703G>A	c.(703-705)Gag>Aag	p.E235K	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.E235K			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	235	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGGCGGAGGAGCAGCAGCC	0.607																																																	0													34	28	30					1																	154516899		2203	4300	6503	SO:0001583	missense	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.703G>A	1.37:g.154516899G>A	ENSP00000357465:p.Glu235Lys		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E235K	ENST00000368480.3	37	c.703	CCDS41406.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014131	0.75161	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.11169	2.8;2.8	3.54	1.49	0.22878	Maternal tudor protein (1);	0.699242	0.11820	N	0.526298	T	0.08714	0.0216	L	0.27053	0.805	0.09310	N	1	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.21724	-1.0237	10	0.66056	D	0.02	-14.1243	9.1545	0.36985	0.0:0.4409:0.5591:0.0	.	235;235	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	K	235	ENSP00000357467:E235K;ENSP00000357465:E235K	ENSP00000357465:E235K	E	+	1	0	TDRD10	152783523	0.018000	0.18449	0.001000	0.08648	0.591000	0.36615	0.618000	0.24373	0.138000	0.18790	0.557000	0.71058	GAG	TDRD10	-	pfam_Tudor		0.607	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	G	NM_182499		154516899	1	no_errors	ENST00000368480	ensembl	human	known	70_37	missense	SNP	0.001	A	A	154516899	G	A	154516899	3	1	118	1	0	0	0	0	1	0	0	0	15761	1175	41	1	737	1	TDRD10	1	154516899	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	69005915	154516899	94733722	10	18891										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155932919	155932919	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccagcatccccgtgcggaaGaggcgggtcatgatcttcag	13	12	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:155932919G>A	ENST00000361247.4	-	8	879	c.780C>T	c.(778-780)ctC>ctT	p.L260L	ARHGEF2_ENST00000368316.1_Silent_p.L232L|ARHGEF2_ENST00000462460.2_Silent_p.L305L|ARHGEF2_ENST00000368315.4_Silent_p.L261L|ARHGEF2_ENST00000313695.7_Silent_p.L232L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.L259L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	260	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGTGCGGAAGAGGCGGGTCA	0.582																																					Melanoma(178;35 2768 6610 28839)												0													79	71	74					1																	155932919		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.780C>T	1.37:g.155932919G>A			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L261	ENST00000361247.4	37	c.783	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155932919	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	silent	SNP	0.997	A	A	155932919	G	A	155932919	2	1	118	1	0	0	0	0	0	0	0	1	903	929	33	1		1	ARHGEF2	1	155932919	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1416020	155932919	93317702	11	18892										
CACNA1E	777	genome.wustl.edu	37	chr1	181701977	181701977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccaggcacaggcagagccaaCggcgcagccggcatcgccgc	14	17	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:181701977C>T	ENST00000367573.2	+	20	2755	c.2755C>T	c.(2755-2757)Cgg>Tgg	p.R919W	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R900W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R851W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R526W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R900W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R870W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R919W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	919					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)			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						GCAGAGCCAACGGCGCAGCCG	0.647																																																	0													49	59	56					1																	181701977		2122	4242	6364	SO:0001583	missense	777			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.2755C>T	1.37:g.181701977C>T	ENSP00000356545:p.Arg919Trp		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.R919W	ENST00000367573.2	37	c.2755	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418344	0.62622	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96830	-4.05;-4.05;-4.03;-4.04;-4.14;-4.03;-4.04	4.13	-0.366	0.12545	.	1.380240	0.04180	N	0.326242	D	0.95570	0.8560	N	0.08118	0	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.958;0.948;0.958	D	0.87080	0.2165	10	0.87932	D	0	.	14.9963	0.71433	0.7087:0.2913:0.0:0.0	.	900;919;919	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	919;900;870;851;526;900;919	ENSP00000356542:R919W;ENSP00000434814:R900W;ENSP00000350183:R870W;ENSP00000351101:R851W;ENSP00000356539:R526W;ENSP00000353222:R900W;ENSP00000356545:R919W	ENSP00000350183:R870W	R	+	1	2	CACNA1E	179968600	0.989000	0.36119	0.995000	0.50966	0.950000	0.60333	0.048000	0.14078	-0.038000	0.13624	0.555000	0.69702	CGG	CACNA1E	-	NULL		0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	C	NM_000721		181701977	1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	0.976	T	T	181701977	C	T	181701977	3	4	118	1	0	0	0	0	1	0	0	0	2547	527	19	2	2833	2	CACNA1E	1	181701977	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	25769058	181701977	67548644	12	18893										
HMCN1	83872	genome.wustl.edu	37	chr1	185976331	185976331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cttacatttaaagaatgcacGgagaaatgacaaggggcgct	11	7	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:185976331G>A	ENST00000271588.4	+	30	4776	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1516Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1516	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAATGCACGGAGAAATGAC	0.388																																																	0													110	109	110					1																	185976331		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4547G>A	1.37:g.185976331G>A	ENSP00000271588:p.Arg1516Gln		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R1516Q	ENST00000271588.4	37	c.4547	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004039	0.93287	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.76	4.84	0.62591	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055755	0.64402	D	0.000001	T	0.65069	0.2656	N	0.25332	0.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.55761	-0.8090	10	0.13853	T	0.58	.	14.5842	0.68312	0.07:0.0:0.93:0.0	.	1516	Q96RW7	HMCN1_HUMAN	Q	1516	ENSP00000271588:R1516Q;ENSP00000356462:R1516Q	ENSP00000271588:R1516Q	R	+	2	0	HMCN1	184242954	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.363000	0.79516	2.880000	0.98712	0.650000	0.86243	CGG	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		185976331	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	185976331	G	A	185976331	3	1	118	1	0	0	0	0	1	0	0	0	7240	1116	39	2	4665	2	HMCN1	1	185976331	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	4274354	185976331	63274290	13	18894										
FAM5C	339479	genome.wustl.edu	37	chr1	190423875	190423875	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gatggaagggtcccttatcaGagaggagccagtcgaagggg	17	7	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:190423875G>A	ENST00000367462.3	-	2	377	c.146C>T	c.(145-147)tCt>tTt	p.S49F	BRINP3_ENST00000534846.1_Silent_p.L11L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	49					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCCCTTATCAGAGAGGAGCCA	0.498																																																	0													79	78	78					1																	190423875		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.146C>T	1.37:g.190423875G>A	ENSP00000356432:p.Ser49Phe		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S49F	ENST00000367462.3	37	c.146	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988036	0.74589	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.55760	2.2;0.5	5.42	4.5	0.54988	.	0.063733	0.64402	D	0.000004	T	0.66723	0.2818	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.69624	-0.5095	10	0.87932	D	0	.	13.2729	0.60172	0.0:0.0:0.8402:0.1598	.	49	Q76B58	FAM5C_HUMAN	F	49	ENSP00000356432:S49F;ENSP00000393441:S49F	ENSP00000356432:S49F	S	-	2	0	FAM5C	188690498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.589000	0.82641	1.254000	0.44035	0.655000	0.94253	TCT	FAM5C	-	NULL		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	G	NM_199051		190423875	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	missense	SNP	1.000	A	A	190423875	G	A	190423875	3	1	118	1	0	0	0	0	1	0	0	0	5612	942	33	1	2182	1	FAM5C	1	190423875	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	4447544	190423875	58826746	14	18895										
CFH	3075	genome.wustl.edu	37	chr1	196694299	196694299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgtacacttagttcctgatcGcaagaaagaccagtataaag	8	8	0	3	rs138890387		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:196694299G>A	ENST00000367429.4	+	12	1985	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	582	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTCCTGATCGCAAGAAAGAC	0.348																																																	0								G	HIS/ARG	0,4406		0,0,2203	74	65	68		1745	2.7	0.1	1	dbSNP_134	68	1,8599		0,1,4299	no	missense	CFH	NM_000186.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	582/1232	196694299	1,13005	2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1745G>A	1.37:g.196694299G>A	ENSP00000356399:p.Arg582His		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R582H	ENST00000367429.4	37	c.1745	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624759	0.28889	0.0	1.16E-4	ENSG00000000971	ENST00000367429	T	0.73681	-0.77	5.74	2.72	0.32119	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.51601	0.1684	N	0.19112	0.55	0.09310	N	0.999991	B	0.22909	0.077	B	0.09377	0.004	T	0.29640	-1.0005	9	0.15066	T	0.55	.	3.8213	0.08836	0.1718:0.5754:0.166:0.0867	.	582	P08603	CFAH_HUMAN	H	582	ENSP00000356399:R582H	ENSP00000356399:R582H	R	+	2	0	CFH	194960922	0.002000	0.14202	0.077000	0.20336	0.003000	0.03518	0.287000	0.18920	1.581000	0.49865	-0.134000	0.14843	CGC	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.348	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196694299	1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.005	A	A	196694299	G	A	196694299	3	1	118	1	0	0	0	0	1	0	0	0	3288	1087	38	2	1809	2	CFH	1	196694299	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	6270424	196694299	52556322	15	18896										
ATP2B4	493	genome.wustl.edu	37	chr1	203668790	203668790	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atcatccgaaacggtcaactCatccagctccctgtggctga	8	14	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:203668790C>T	ENST00000357681.5	+	4	1717	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ATP2B4_ENST00000367219.3_Silent_p.L198L|ATP2B4_ENST00000341360.2_Silent_p.L198L|ATP2B4_ENST00000391954.2_Silent_p.L198L|ATP2B4_ENST00000367218.3_Silent_p.L198L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	198					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACGGTCAACTCATCCAGCTCC	0.507																																																	0													188	173	178					1																	203668790		2203	4300	6503	SO:0001819	synonymous_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.594C>T	1.37:g.203668790C>T			B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L198	ENST00000357681.5	37	c.594	CCDS1440.1	1																																																																																			ATP2B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr		0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	C	NM_001001396		203668790	1	no_errors	ENST00000357681	ensembl	human	known	70_37	silent	SNP	1.000	T	T	203668790	C	T	203668790	2	4	118	1	0	0	0	0	0	0	0	1	1143	813	29	1		1	ATP2B4	1	203668790	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	6974491	203668790	45581831	16	18897										
TP53BP2	7159	genome.wustl.edu	37	chr1	223987747	223987747	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cagcggaacctctccatcatCaactaaagacaaaaaaatca	4	12	4	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:223987747C>T	ENST00000343537.7	-	11	1630	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.D318N	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	441					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCTCCATCATCAACTAAAGAC	0.413																																																	0													124	112	116					1																	223987747		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1339G>A	1.37:g.223987747C>T	ENSP00000341957:p.Asp447Asn		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D447N	ENST00000343537.7	37	c.1339	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082997	0.55861	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.47177	0.85;1.01	5.8	5.8	0.92144	.	0.181315	0.45126	D	0.000396	T	0.42562	0.1208	L	0.46157	1.445	0.80722	D	1	B;B	0.30793	0.201;0.295	B;B	0.26202	0.051;0.067	T	0.19976	-1.0289	10	0.22109	T	0.4	.	18.2499	0.89998	0.0:1.0:0.0:0.0	.	447;441	B4DG66;Q13625	.;ASPP2_HUMAN	N	318;447	ENSP00000375750:D318N;ENSP00000341957:D447N	ENSP00000341957:D447N	D	-	1	0	TP53BP2	222054370	1.000000	0.71417	0.460000	0.27093	0.925000	0.55904	3.810000	0.55613	2.758000	0.94735	0.563000	0.77884	GAT	TP53BP2	-	NULL		0.413	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	C	NM_001031685, NM_005426		223987747	-1	no_errors	ENST00000343537	ensembl	human	known	70_37	missense	SNP	0.790	T	T	223987747	C	T	223987747	3	4	118	1	0	0	0	0	1	0	0	0	16415	826	29	1	2097	1	TP53BP2	1	223987747	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	20318957	223987747	25262874	17	18898										
GJC2	57165	genome.wustl.edu	37	chr1	228345525	228345525	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atccacaaccactccaccttCgtgggcaaggtgtggctcac	9	15	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:228345525C>T	ENST00000366714.2	+	2	241	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	22					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)	p.F22F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				ACTCCACCTTCGTGGGCAAGG	0.652																																																	1	Substitution - coding silent(1)	lung(1)											48	31	37					1																	228345525		2197	4296	6493	SO:0001819	synonymous_variant	57165			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.66C>T	1.37:g.228345525C>T			O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.F22	ENST00000366714.2	37	c.66	CCDS1569.1	1																																																																																			GJC2	-	pfam_Connexin_N		0.652	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	C	NM_020435		228345525	1	no_errors	ENST00000366714	ensembl	human	known	70_37	silent	SNP	0.998	T	T	228345525	C	T	228345525	2	4	118	1	0	0	0	0	0	0	0	1	6434	883	31	1		1	GJC2	1	228345525	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	4357778	228345525	20905096	18	18899										
FAM179A	165186	genome.wustl.edu	37	chr2	29234362	29234362	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcgggagaagacccctgcatCtctgggtacgtatcttccat	10	12	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:29234362C>G	ENST00000379558.4	+	7	1223	c.872C>G	c.(871-873)tCt>tGt	p.S291C	FAM179A_ENST00000403861.2_Missense_Mutation_p.S291C	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	291										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCCTGCATCTCTGGGTACG	0.537																																																	0													108	112	111					2																	29234362		1917	4119	6036	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.872C>G	2.37:g.29234362C>G	ENSP00000368876:p.Ser291Cys		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S291C	ENST00000379558.4	37	c.872	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172756	0.38413	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.12879	2.85;2.64	4.66	4.66	0.58398	.	.	.	.	.	T	0.26557	0.0649	L	0.32530	0.975	0.29841	N	0.829195	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.972	T	0.03249	-1.1056	9	0.87932	D	0	.	13.416	0.60968	0.0:1.0:0.0:0.0	.	291;291	F8W8E4;Q6ZUX3	.;F179A_HUMAN	C	291	ENSP00000368876:S291C;ENSP00000384699:S291C	ENSP00000368876:S291C	S	+	2	0	FAM179A	29087866	1.000000	0.71417	0.987000	0.45799	0.004000	0.04260	4.026000	0.57232	2.297000	0.77311	0.467000	0.42956	TCT	FAM179A	-	NULL		0.537	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29234362	1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.996	G	G	29234362	C	G	29234362	3	3	118	1	0	0	0	0	1	0	0	0	5520	913	32	1	894	1	FAM179A	2	29234362	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		29234362	213965011	19	18900										
SPTBN1	6711	genome.wustl.edu	37	chr2	54871601	54871601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tctttgatgcaaacaaggccGaacttttcacccagagctgt	8	11	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:54871601G>A	ENST00000356805.4	+	20	4428	c.4147G>A	c.(4147-4149)Gaa>Aaa	p.E1383K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1370K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1383					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAACAAGGCCGAACTTTTCAC	0.488																																																	0													80	78	79					2																	54871601		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4147G>A	2.37:g.54871601G>A	ENSP00000349259:p.Glu1383Lys		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1383K	ENST00000356805.4	37	c.4147	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.780481	0.96929	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52526	0.66;0.66	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.64630	1.985	0.80722	D	1	P;P	0.51791	0.948;0.817	P;B	0.46758	0.526;0.435	T	0.57825	-0.7744	10	0.52906	T	0.07	.	19.929	0.97113	0.0:0.0:1.0:0.0	.	1370;1383	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1383;1370	ENSP00000349259:E1383K;ENSP00000334156:E1370K	ENSP00000334156:E1370K	E	+	1	0	SPTBN1	54725105	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.802000	0.99131	2.706000	0.92434	0.655000	0.94253	GAA	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.488	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54871601	1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54871601	G	A	54871601	3	1	118	1	0	0	0	0	1	0	0	0	15149	1059	37	1	4334	1	SPTBN1	2	54871601	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	25637239	54871601	188327772	20	18901										
USP34	9736	genome.wustl.edu	37	chr2	61436045	61436045	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aatatttacctctgtcattaGaatcaatcctcgattaaata	3	8	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:61436045G>T	ENST00000398571.2	-	70	8984	c.8908C>A	c.(8908-8910)Cta>Ata	p.L2970I	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2970					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGTCATTAGAATCAATCCT	0.303																																																	0													88	86	87					2																	61436045		1811	4059	5870	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8908C>A	2.37:g.61436045G>T	ENSP00000381577:p.Leu2970Ile		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L2970I	ENST00000398571.2	37	c.8908	CCDS42686.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044561|2.044561	0.36085|0.36085	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398571|ENST00000411912	T|.	0.28454|.	1.61|.	6.06|6.06	1.27|1.27	0.21489|0.21489	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.27053|0.27053	0.805|0.805	0.46096|0.46096	D|D	0.998864|0.998864	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.15093|0.15093	-1.0449|-1.0449	10|5	0.37606|.	T|.	0.19|.	.|.	9.7206|9.7206	0.40300|0.40300	0.3841:0.0:0.6159:0.0|0.3841:0.0:0.6159:0.0	.|.	2970|.	Q70CQ2|.	UBP34_HUMAN|.	I|Y	2818;2970|729	ENSP00000381577:L2970I|.	ENSP00000263989:L2818I|.	L|S	-|-	1|2	2|0	USP34|USP34	61289549|61289549	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.557000|0.557000	0.35523|0.35523	3.639000|3.639000	0.54339|0.54339	-0.039000|-0.039000	0.13602|0.13602	-0.145000|-0.145000	0.13849|0.13849	CTA|TCT	USP34	-	superfamily_ARM-type_fold		0.303	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	G			61436045	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61436045	G	T	61436045	3	4	118	1	0	0	0	0	1	0	0	0	17096	933	33	3	1776	3	USP34	2	61436045	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	6564444	61436045	181763328	21	18902										
ANKRD36	375248	genome.wustl.edu	37	chr2	97847353	97847353	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agtgtcttctcagaaacaacCagctgagaaggtaattaaag	9	7	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:97847353C>G	ENST00000461153.2	+	25	1998	c.1754C>G	c.(1753-1755)cCa>cGa	p.P585R	ANKRD36_ENST00000420699.2_Missense_Mutation_p.P585R			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	585										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGAAACAACCAGCTGAGAAG	0.308																																																	0													54	46	48					2																	97847353		692	1572	2264	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1754C>G	2.37:g.97847353C>G	ENSP00000419530:p.Pro585Arg		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P585R	ENST00000461153.2	37	c.1754	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.952	0.359717	0.11239	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.76060	-0.99;-0.99	1.25	0.308	0.15815	.	.	.	.	.	T	0.75561	0.3866	L	0.39898	1.24	0.09310	N	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.53;0.999	T	0.61212	-0.7108	9	0.51188	T	0.08	.	3.4209	0.07393	0.0:0.7154:0.0:0.2846	.	585;52	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	R	585	ENSP00000419530:P585R;ENSP00000391950:P585R	ENSP00000391950:P585R	P	+	2	0	ANKRD36	97211080	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.045000	0.12003	0.086000	0.17137	0.184000	0.17185	CCA	ANKRD36	-	NULL		0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	C			97847353	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.006	G	G	97847353	C	G	97847353	3	3	118	1	0	0	0	0	1	0	0	0	665	594	21	4	1852	4	ANKRD36	2	97847353	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	36411308	97847353	145352020	22	18903										
LRP1B	53353	genome.wustl.edu	37	chr2	141643716	141643716	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aatatatgtacctccactttCagaaagctttccccggtata	5	11	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:141643716C>T	ENST00000389484.3	-	24	4926	c.3955G>A	c.(3955-3957)Gaa>Aaa	p.E1319K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1319					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCCACTTTCAGAAAGCTTT	0.284										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													42	44	43					2																	141643716		2201	4296	6497	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3955G>A	2.37:g.141643716C>T	ENSP00000374135:p.Glu1319Lys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1319K	ENST00000389484.3	37	c.3955	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281153	0.59758	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91011	-2.77;-2.77	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.228496	0.36303	N	0.002672	D	0.90796	0.7110	L	0.39566	1.225	0.53005	D	0.999964	P;B	0.42296	0.775;0.361	P;B	0.52066	0.689;0.086	D	0.87361	0.2344	10	0.16896	T	0.51	.	18.8322	0.92144	0.0:1.0:0.0:0.0	.	502;1319	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1319;1257;464	ENSP00000374135:E1319K;ENSP00000413239:E464K	ENSP00000374135:E1319K	E	-	1	0	LRP1B	141360186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.673000	0.90976	0.650000	0.86243	GAA	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.284	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141643716	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141643716	C	T	141643716	3	4	118	1	0	0	0	0	1	0	0	0	8978	835	29	1	10116	1	LRP1B	2	141643716	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	43796363	141643716	101555657	23	18904										
RIF1	55183	genome.wustl.edu	37	chr2	152321064	152321064	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agaatcaaatctaaggactaGaaatgccattaagagattac	7	6	2	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:152321064G>C	ENST00000243326.5	+	29	5513	c.5030G>C	c.(5029-5031)aGa>aCa	p.R1677T	RIF1_ENST00000453091.2_Missense_Mutation_p.R1677T|RIF1_ENST00000444746.2_Missense_Mutation_p.R1677T|RIF1_ENST00000430328.2_Missense_Mutation_p.R1677T|RIF1_ENST00000428287.2_Missense_Mutation_p.R1677T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTAAGGACTAGAAATGCCATT	0.338																																																	0													47	49	48					2																	152321064		2202	4299	6501	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5030G>C	2.37:g.152321064G>C	ENSP00000243326:p.Arg1677Thr		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.R1677T	ENST00000243326.5	37	c.5030	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198440	0.58126	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.51	5.51	0.81932	.	0.414776	0.28748	N	0.014277	T	0.17109	0.0411	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.63703	0.829;0.917	T	0.06127	-1.0844	10	0.16420	T	0.52	-19.9726	9.1023	0.36676	0.0781:0.149:0.7729:0.0	.	1677;1677	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	T	1677	ENSP00000390181:R1677T;ENSP00000414615:R1677T;ENSP00000415691:R1677T;ENSP00000243326:R1677T;ENSP00000416123:R1677T	ENSP00000243326:R1677T	R	+	2	0	RIF1	152029310	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.988000	0.40697	2.581000	0.87130	0.557000	0.71058	AGA	RIF1	-	NULL		0.338	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152321064	1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152321064	G	C	152321064	3	2	118	1	0	0	0	0	1	0	0	0	13389	942	33	1	5144	1	RIF1	2	152321064	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	10677348	152321064	90878309	24	18905										
IFIH1	64135	genome.wustl.edu	37	chr2	163128822	163128822	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcggaaatcattaactgtctCatgttcgataactcctgaac	6	10	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:163128822C>G	ENST00000263642.2	-	13	2925	c.2530G>C	c.(2530-2532)Gag>Cag	p.E844Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	844	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTAACTGTCTCATGTTCGATA	0.418																																																	0													106	92	97					2																	163128822		2203	4300	6503	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2530G>C	2.37:g.163128822C>G	ENSP00000263642:p.Glu844Gln		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E844Q	ENST00000263642.2	37	c.2530	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.359673	0.95854	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.08720	3.06	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.044318	0.85682	D	0.000000	T	0.32376	0.0827	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.01172	-1.1429	10	0.87932	D	0	-22.0913	19.9729	0.97289	0.0:1.0:0.0:0.0	.	844	Q9BYX4	IFIH1_HUMAN	Q	844	ENSP00000263642:E844Q	ENSP00000263642:E844Q	E	-	1	0	IFIH1	162837068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.510000	0.81708	2.716000	0.92895	0.650000	0.86243	GAG	IFIH1	-	pfscan_Helicase_C		0.418	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2	C	NM_022168		163128822	-1	no_errors	ENST00000263642	ensembl	human	known	70_37	missense	SNP	1.000	G	G	163128822	C	G	163128822	3	3	118	1	0	0	0	0	1	0	0	0	7540	835	29	1	563	1	IFIH1	2	163128822	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	10807758	163128822	80070551	25	18906										
SLC38A11	151258	genome.wustl.edu	37	chr2	165772440	165772440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cataaccccgaccgcttgaaTggcattgggctttgcaaata	9	11	0	1	rs368927720		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:165772440T>C	ENST00000409149.3	-	7	784	c.493A>G	c.(493-495)Att>Gtt	p.I165V	SLC38A11_ENST00000409058.1_Missense_Mutation_p.I196V|SLC38A11_ENST00000409662.1_Missense_Mutation_p.I165V|SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000303735.4_Missense_Mutation_p.I143V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	165					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACCGCTTGAATGGCATTGGGC	0.373																																																	0								T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	207	224	218		427,493	3.6	1	2		218	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC38A11	NM_173512.2,NM_001199148.1	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	143/385,165/407	165772440	1,13005	2203	4300	6503	SO:0001583	missense	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.493A>G	2.37:g.165772440T>C	ENSP00000386272:p.Ile165Val		B4DF99|Q8N887	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.I165V	ENST00000409149.3	37	c.493	CCDS56142.1	2	.	.	.	.	.	.	.	.	.	.	T	9.027	0.986216	0.18889	0.0	1.16E-4	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.92	3.59	0.41128	.	0.187450	0.56097	N	0.000032	T	0.01222	0.0040	N	0.11201	0.11	0.45580	D	0.998527	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.003	T	0.42068	-0.9473	10	0.02654	T	1	-19.9368	8.1602	0.31194	0.0:0.2486:0.0:0.7514	.	165;143	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	V	143;165;196;165;40	ENSP00000306178:I143V;ENSP00000386272:I165V;ENSP00000387345:I196V;ENSP00000386774:I165V	ENSP00000306178:I143V	I	-	1	0	SLC38A11	165480686	0.993000	0.37304	0.986000	0.45419	0.985000	0.73830	1.453000	0.35167	1.071000	0.40834	0.533000	0.62120	ATT	SLC38A11	-	pfam_AA_transpt_TM		0.373	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	HGNC	protein_coding	OTTHUMT00000333390.1	T	NM_173512		165772440	-1	no_errors	ENST00000409149	ensembl	human	known	70_37	missense	SNP	0.799	C	C	165772440	T	C	165772440	3	2	118	1	0	0	0	0	1	0	0	0	14633	1464	51	5	747	5	SLC38A11	2	165772440	Missense_Mutation	SNP	T	TCGA-EK-A3GM-01A-11D-A20U-09	2643618	165772440	77426933	26	18907										
MYO3B	140469	genome.wustl.edu	37	chr2	171262054	171262054	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccaacataaaaatccacacaGataaatttgaagataatcta	3	8	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:171262054G>A	ENST00000408978.4	+	21	2574		c.e21-1		MYO3B_ENST00000409044.3_Splice_Site|MYO3B_ENST00000602629.1_Splice_Site|MYO3B_ENST00000334231.6_Splice_Site	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB						peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AATCCACACAGATAAATTTGA	0.393																																																	0													90	83	85					2																	171262054		1828	4092	5920	SO:0001630	splice_region_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2432-1G>A	2.37:g.171262054G>A			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Splice_Site	SNP	-	e21-1	ENST00000408978.4	37	c.2459-1	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835266	0.91117	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3B	170970300	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.743000	0.98849	2.748000	0.94277	0.655000	0.94253	.	MYO3B	-	-		0.393	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	G		Intron	171262054	1	no_errors	ENST00000334231	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	171262054	G	A	171262054	5	1	118	1	0	0	0	0	0	0	1	0	10100	956	33	1	2513	1	MYO3B	2	171262054	Splice_Site	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	5489614	171262054	71937319	27	18908										
TTN	7273	genome.wustl.edu	37	chr2	179432618	179432618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atctctggctacatagcattCagaattcttgcttgctttgc	7	10	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:179432618C>T	ENST00000591111.1	-	276	73542	c.73318G>A	c.(73318-73320)Gaa>Aaa	p.E24440K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26081K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23513K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17141K|TTN_ENST00000460472.2_Missense_Mutation_p.E17016K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17208K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24440	Fibronectin type-III 77. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATAGCATTCAGAATTCTTG	0.403																																																	0													201	191	194					2																	179432618		1882	4104	5986	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73318G>A	2.37:g.179432618C>T	ENSP00000465570:p.Glu24440Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E23513K	ENST00000591111.1	37	c.70537		2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858160	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.58	5.58	0.84498	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65165	0.2665	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.67059	-0.5766	9	0.87932	D	0	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	17016;17141;17208;24440	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23513;17016;17208;17141;17014	ENSP00000343764:E23513K;ENSP00000434586:E17016K;ENSP00000340554:E17208K;ENSP00000352154:E17141K	ENSP00000340554:E17208K	E	-	1	0	TTN	179140864	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.818000	0.86416	2.615000	0.88500	0.555000	0.69702	GAA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179432618	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179432618	C	T	179432618	3	4	118	1	0	0	0	0	1	0	0	0	16766	835	29	1	29886	1	TTN	2	179432618	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	8170564	179432618	63766755	28	18909										
BARD1	580	genome.wustl.edu	37	chr2	215645934	215645934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttcaccatcttctttttctgCctctaaattccatttttggt	3	11	5	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:215645934C>A	ENST00000260947.4	-	4	798	c.664G>T	c.(664-666)Gca>Tca	p.A222S	BARD1_ENST00000449967.2_Missense_Mutation_p.A78S|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	222					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTTTTCTGCCTCTAAATTC	0.378									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													59	62	61					2																	215645934		2203	4299	6502	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.664G>T	2.37:g.215645934C>A	ENSP00000260947:p.Ala222Ser		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.A222S	ENST00000260947.4	37	c.664	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	C	2.594	-0.294450	0.05568	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.01	5.61	-2.36	0.06663	.	1.068200	0.07115	N	0.842935	T	0.58323	0.2114	L	0.57536	1.79	0.09310	N	1	B;B	0.27450	0.179;0.105	B;B	0.24269	0.052;0.036	T	0.37033	-0.9723	10	0.20519	T	0.43	0.1208	3.3795	0.07249	0.1033:0.3421:0.1072:0.4475	.	78;222	E7EUI3;Q99728	.;BARD1_HUMAN	S	222;78	ENSP00000260947:A222S;ENSP00000406752:A78S	ENSP00000260947:A222S	A	-	1	0	BARD1	215354179	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.264000	0.08658	-0.397000	0.07691	0.555000	0.69702	GCA	BARD1	-	NULL		0.378	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	C	NM_000465		215645934	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	missense	SNP	0.000	A	A	215645934	C	A	215645934	3	1	118	1	0	0	0	0	1	0	0	0	1313	739	26	4	1701	4	BARD1	2	215645934	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	36213316	215645934	27553439	29	18910										
CXCR7	57007	genome.wustl.edu	37	chr2	237489318	237489318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gtggtggtctgggtgaatatCcaggccaagaccacaggcta	14	9	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:237489318C>T	ENST00000272928.3	+	2	520	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	70					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GGGTGAATATCCAGGCCAAGA	0.532																																																	0													180	135	150					2																	237489318		2203	4300	6503	SO:0001819	synonymous_variant	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.210C>T	2.37:g.237489318C>T			A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.I70	ENST00000272928.3	37	c.210	CCDS2516.1	2																																																																																			CXCR7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn		0.532	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	C	NM_020311		237489318	1	no_errors	ENST00000272928	ensembl	human	known	70_37	silent	SNP	0.998	T	T	237489318	C	T	237489318	2	4	118	1	0	0	0	0	0	0	0	1	4101	845	30	1		1	CXCR7	2	237489318	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	21843384	237489318	5710055	30	18911										
ITPR1	3708	genome.wustl.edu	37	chr3	4712601	4712601	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggaggaccgagacgttctcaGctactacaggtgcgtgggac	15	10	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:4712601G>C	ENST00000443694.2	+	17	2150	c.2150G>C	c.(2149-2151)aGc>aCc	p.S717T	ITPR1_ENST00000302640.8_Missense_Mutation_p.S717T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S717T|ITPR1_ENST00000423119.2_Missense_Mutation_p.S732T|ITPR1_ENST00000354582.6_Missense_Mutation_p.S732T|ITPR1_ENST00000357086.4_Missense_Mutation_p.S732T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	732					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GACGTTCTCAGCTACTACAGG	0.507																																																	0													61	63	63					3																	4712601		2018	4166	6184	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2150G>C	3.37:g.4712601G>C	ENSP00000401671:p.Ser717Thr		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S717T	ENST00000443694.2	37	c.2150	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232458	0.22626	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90676	-2.7;-2.71;-2.7;-2.7;-2.7;-2.7	4.38	4.38	0.52667	.	0.122764	0.85682	D	0.000000	T	0.73001	0.3531	N	0.01493	-0.835	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.11329	0.002;0.002;0.006	T	0.69168	-0.5216	10	0.12766	T	0.61	.	10.7413	0.46156	0.087:0.0:0.913:0.0	.	717;732;732	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	T	732;717;732;732;732;717;717	ENSP00000306253:S717T;ENSP00000346595:S732T;ENSP00000405934:S732T;ENSP00000349597:S732T;ENSP00000397885:S717T;ENSP00000401671:S717T	ENSP00000306253:S717T	S	+	2	0	ITPR1	4687601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.428000	0.73383	2.263000	0.75096	0.655000	0.94253	AGC	ITPR1	-	NULL		0.507	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4712601	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4712601	G	C	4712601	3	2	118	1	0	0	0	0	1	0	0	0	7940	971	34	4	2265	4	ITPR1	3	4712601	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		4712601	193309829	31	18912										
ZNF35	7584	genome.wustl.edu	37	chr3	44700920	44700920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ctcattgtccaccagaggatCcacactggggagaagccctt	10	13	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:44700920C>T	ENST00000396056.2	+	4	1300	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.I195I|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	355					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACCAGAGGATCCACACTGGGG	0.463																																																	0													49	55	53					3																	44700920		2203	4300	6503	SO:0001819	synonymous_variant	7584			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1065C>T	3.37:g.44700920C>T			B2RBU6|Q53Y54|Q96D01	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I355	ENST00000396056.2	37	c.1065	CCDS2718.2	3																																																																																			ZNF35	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF35	HGNC	protein_coding	OTTHUMT00000256749.4	C	NM_003420		44700920	1	no_errors	ENST00000396056	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44700920	C	T	44700920	2	4	118	1	0	0	0	0	0	0	0	1	17892	845	30	1		1	ZNF35	3	44700920	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	39988319	44700920	153321510	32	18913										
PLXNB1	5364	genome.wustl.edu	37	chr3	48465618	48465618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttgtgtgtccccaggccgctCtggccgcagcagcagctgct	13	15	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:48465618C>T	ENST00000358536.4	-	3	672	c.403G>A	c.(403-405)Gag>Aag	p.E135K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E135K|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E135K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E135K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGCCGCTCTGGCCGCAGC	0.682																																																	0													10	13	12					3																	48465618		2196	4280	6476	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.403G>A	3.37:g.48465618C>T	ENSP00000351338:p.Glu135Lys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E135K	ENST00000358536.4	37	c.403	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.075458	0.94000	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	4.14	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.146525	0.44483	D	0.000458	T	0.15782	0.0380	M	0.80183	2.485	0.80722	D	1	P;P	0.51653	0.783;0.947	B;P	0.54499	0.154;0.754	T	0.11567	-1.0582	10	0.23891	T	0.37	.	15.418	0.74987	0.0:1.0:0.0:0.0	.	135;135	O43157;O43157-2	PLXB1_HUMAN;.	K	135	ENSP00000296440:E135K;ENSP00000351242:E135K;ENSP00000351338:E135K;ENSP00000414199:E135K	ENSP00000296440:E135K	E	-	1	0	PLXNB1	48440622	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.006000	0.70724	1.851000	0.53745	0.655000	0.94253	GAG	PLXNB1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.682	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48465618	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48465618	C	T	48465618	3	4	118	1	0	0	0	0	1	0	0	0	12147	922	32	1	6148	1	PLXNB1	3	48465618	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	3764698	48465618	149556812	33	18914										
BSN	8927	genome.wustl.edu	37	chr3	49694404	49694404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gctagaggagcagaagcagcGgcagaaggctccctttcctg	14	11	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:49694404G>A	ENST00000296452.4	+	5	7529	c.7415G>A	c.(7414-7416)cGg>cAg	p.R2472Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2472					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		cagaagcagcggcagAAGGCT	0.652																																																	0													13	16	15					3																	49694404		2190	4295	6485	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7415G>A	3.37:g.49694404G>A	ENSP00000296452:p.Arg2472Gln		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R2472Q	ENST00000296452.4	37	c.7415	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100827	0.37048	.	.	ENSG00000164061	ENST00000296452	T	0.22134	1.97	5.93	5.93	0.95920	.	0.063272	0.64402	D	0.000009	T	0.11324	0.0276	N	0.19112	0.55	0.39830	D	0.97295	P	0.47762	0.9	B	0.33568	0.166	T	0.17319	-1.0373	10	0.22109	T	0.4	-16.1952	13.2073	0.59805	0.0728:0.0:0.9272:0.0	.	2472	Q9UPA5	BSN_HUMAN	Q	2472	ENSP00000296452:R2472Q	ENSP00000296452:R2472Q	R	+	2	0	BSN	49669408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.200000	0.58433	2.826000	0.97356	0.655000	0.94253	CGG	BSN	-	NULL		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49694404	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49694404	G	A	49694404	3	1	118	1	0	0	0	0	1	0	0	0	1533	1116	39	2	7433	2	BSN	3	49694404	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1228786	49694404	148328026	34	18915										
NAT6	24142	genome.wustl.edu	37	chr3	50334747	50334747	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gctaggagctggggtctcctCtggctggtgttcaggatcca	15	10	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:50334747C>T	ENST00000443842.1	-	2	955	c.148G>A	c.(148-150)Gag>Aag	p.E50K	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.E72K|NAT6_ENST00000443094.2_Missense_Mutation_p.E50K|NAT6_ENST00000417393.1_Missense_Mutation_p.E50K			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	50						cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTCTCCTCTGGCTGGTGT	0.587																																																	0													39	44	42					3																	50334747		2037	4189	6226	SO:0001583	missense	24142			AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"N-acetyltransferase 6"			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.148G>A	3.37:g.50334747C>T	ENSP00000400559:p.Glu50Lys		Q93014	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E72K	ENST00000443842.1	37	c.214	CCDS56258.1	3	.	.	.	.	.	.	.	.	.	.	C	12.69	2.015085	0.35511	.	.	ENSG00000243477	ENST00000354862;ENST00000417393;ENST00000443094;ENST00000443842;ENST00000450489;ENST00000442620	.	.	.	5.45	4.34	0.51931	.	.	.	.	.	T	0.22704	0.0548	N	0.08118	0	0.26422	N	0.976088	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.005	T	0.19549	-1.0302	8	0.22109	T	0.4	-34.7252	9.5819	0.39493	0.0:0.8648:0.0:0.1352	.	72;50	Q93015-2;Q93015	.;NAT6_HUMAN	K	72;50;50;50;50;50	.	ENSP00000346927:E72K	E	-	1	0	NAT6	50309751	0.998000	0.40836	0.853000	0.33588	0.559000	0.35586	0.902000	0.28459	0.969000	0.38237	0.563000	0.77884	GAG	NAT6	-	NULL		0.587	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NAT6	HGNC	protein_coding	OTTHUMT00000346681.1	C	NM_012191		50334747	-1	no_errors	ENST00000354862	ensembl	human	known	70_37	missense	SNP	0.946	T	T	50334747	C	T	50334747	3	4	118	1	0	0	0	0	1	0	0	0	10201	922	32	1	716	1	NAT6	3	50334747	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	640343	50334747	147687683	35	18916										
DNAH1	25981	genome.wustl.edu	37	chr3	52423564	52423564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cctccgagcccacgctaatcGggacgctggggaaccctgtg	13	15	0	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:52423564G>A	ENST00000420323.2	+	60	9844	c.9583G>A	c.(9583-9585)Ggg>Agg	p.G3195R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3260					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGCTAATCGGGACGCTGGG	0.667																																																	0													36	41	39					3																	52423564		2097	4216	6313	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9583G>A	3.37:g.52423564G>A	ENSP00000401514:p.Gly3195Arg		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.G3195R	ENST00000420323.2	37	c.9583	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767583	0.15983	.	.	ENSG00000114841	ENST00000420323	T	0.56611	0.45	5.06	2.26	0.28386	.	0.762631	0.11559	N	0.551874	T	0.32436	0.0829	N	0.26092	0.79	0.22521	N	0.999023	B;D	0.55605	0.003;0.972	B;B	0.40477	0.004;0.33	T	0.09122	-1.0689	10	0.18276	T	0.48	.	4.9604	0.14063	0.2853:0.0:0.569:0.1457	.	3195;3260	C9JXH6;Q9P2D7-2	.;.	R	3195	ENSP00000401514:G3195R	ENSP00000401514:G3195R	G	+	1	0	DNAH1	52398604	0.991000	0.36638	0.775000	0.31657	0.150000	0.21749	2.475000	0.45162	0.254000	0.21573	-0.291000	0.09656	GGG	DNAH1	-	NULL		0.667	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52423564	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.691	A	A	52423564	G	A	52423564	3	1	118	1	0	0	0	0	1	0	0	0	4607	1116	39	2	9817	2	DNAH1	3	52423564	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	2088817	52423564	145598866	36	18917										
C3orf63	23272	genome.wustl.edu	37	chr3	56659024	56659024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgtcaacagacttagagcttTagcattcaatctgtgaaatt	7	8	3	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:56659024T>C	ENST00000493960.2	-	22	4160	c.4150A>G	c.(4150-4152)Aaa>Gaa	p.K1384E	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000355628.5_Missense_Mutation_p.K1323E|FAM208A_ENST00000431842.2_Missense_Mutation_p.K947E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1384							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTTAGAGCTTTAGCATTCAAT	0.338																																																	0													67	68	68					3																	56659024		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4150A>G	3.37:g.56659024T>C	ENSP00000417509:p.Lys1384Glu		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.K1323E	ENST00000493960.2	37	c.3967	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361982	0.24684	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.48201	0.82;0.82;0.82	5.65	5.65	0.86999	.	0.160268	0.44097	D	0.000496	T	0.26521	0.0648	N	0.10874	0.06	0.37491	D	0.916374	B;B;B;P	0.42827	0.138;0.02;0.242;0.791	B;B;B;B	0.38378	0.049;0.037;0.049;0.272	T	0.25779	-1.0122	10	0.05959	T	0.93	-5.0832	15.8558	0.78977	0.0:0.0:0.0:1.0	.	1384;1323;947;1384	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	E	947;1384;1323	ENSP00000399410:K947E;ENSP00000417509:K1384E;ENSP00000347845:K1323E	ENSP00000347845:K1323E	K	-	1	0	C3orf63	56634064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.642000	0.61383	2.145000	0.66743	0.533000	0.62120	AAA	FAM208A	-	NULL		0.338	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	T	NM_015224		56659024	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56659024	T	C	56659024	3	2	118	1	0	0	0	0	1	0	0	0	2244	1763	61	5	934	5	C3orf63	3	56659024	Missense_Mutation	SNP	T	TCGA-EK-A3GM-01A-11D-A20U-09	4235460	56659024	141363406	37	18918										
EPHA3	2042	genome.wustl.edu	37	chr3	89259301	89259301	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agattgacaccattgcagctGatgaaagtttcactcaaatg	8	8	2	4	rs34813653		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:89259301G>A	ENST00000336596.2	+	3	670	c.445G>A	c.(445-447)Gat>Aat	p.D149N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D149N|EPHA3_ENST00000452448.2_Missense_Mutation_p.D149N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	149	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATTGCAGCTGATGAAAGTTT	0.418										TSP Lung(6;0.00050)																																							0													150	139	143					3																	89259301		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.445G>A	3.37:g.89259301G>A	ENSP00000337451:p.Asp149Asn		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D149N	ENST00000336596.2	37	c.445	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027095	0.93518	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.11712	2.75;2.75;2.75	5.57	5.57	0.84162	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.111999	0.64402	D	0.000015	T	0.40546	0.1121	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.28902	-1.0029	9	.	.	.	.	19.5561	0.95349	0.0:0.0:1.0:0.0	.	149;149	P29320;P29320-2	EPHA3_HUMAN;.	N	149	ENSP00000337451:D149N;ENSP00000399926:D149N;ENSP00000419190:D149N	.	D	+	1	0	EPHA3	89341991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.608000	0.88229	0.557000	0.71058	GAT	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89259301	1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89259301	G	A	89259301	3	1	118	1	0	0	0	0	1	0	0	0	5180	1290	45	1	455	1	EPHA3	3	89259301	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	32600277	89259301	108763129	38	18919										
WDR52	55779	genome.wustl.edu	37	chr3	113023888	113023888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccccagacgcatcacctggtGgagcttgagcggaatcacaa	11	13	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:113023888G>A	ENST00000393845.2	-	31	4936	c.4870C>T	c.(4870-4872)Cac>Tac	p.H1624Y	WDR52_ENST00000308346.6_Missense_Mutation_p.H227Y	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCACCTGGTGGAGCTTGAGC	0.522																																																	0													67	65	66					3																	113023888		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.4870C>T	3.37:g.113023888G>A	ENSP00000377428:p.His1624Tyr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1624Y	ENST00000393845.2	37	c.4870	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.518346|3.518346	0.64634|0.64634	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	T;T|.	0.42513|.	0.97;0.97|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.348186|.	0.31809|.	N|.	0.007024|.	T|T	0.74550|0.74550	0.3731|0.3731	M|M	0.72894|0.72894	2.215|2.215	0.36949|0.36949	D|D	0.892765|0.892765	D|.	0.71674|.	0.998|.	D|.	0.80764|.	0.994|.	T|T	0.78788|0.78788	-0.2067|-0.2067	10|5	0.51188|.	T|.	0.08|.	-6.6502|-6.6502	17.2518|17.2518	0.87044|0.87044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1624|.	Q96MT7-2|.	.|.	Y|L	1624;227|760	ENSP00000377428:H1624Y;ENSP00000311497:H227Y|.	ENSP00000311497:H227Y|.	H|P	-|-	1|2	0|0	WDR52|WDR52	114506578|114506578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.585000|0.585000	0.36419|0.36419	7.262000|7.262000	0.78410|0.78410	2.365000|2.365000	0.80145|0.80145	0.585000|0.585000	0.79938|0.79938	CAC|CCA	WDR52	-	NULL		0.522	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		G			113023888	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113023888	G	A	113023888	3	1	118	1	0	0	0	0	1	0	0	0	17335	1348	47	4	714	4	WDR52	3	113023888	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	23764587	113023888	84998542	39	18920										
KLF15	28999	genome.wustl.edu	37	chr3	126071330	126071330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	catgttctcctccagaaactCttcaatctcctccagggtag	6	14	4	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:126071330C>T	ENST00000296233.3	-	2	666	c.436G>A	c.(436-438)Gag>Aag	p.E146K	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	146					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TCCAGAAACTCTTCAATCTCC	0.587																																																	0													46	48	48					3																	126071330		2203	4300	6503	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.436G>A	3.37:g.126071330C>T	ENSP00000296233:p.Glu146Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E146K	ENST00000296233.3	37	c.436	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267438	0.80469	.	.	ENSG00000163884	ENST00000296233	T	0.15603	2.41	4.45	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.66939	2.045	0.58432	D	0.999999	D	0.63880	0.993	D	0.72625	0.978	T	0.18777	-1.0326	10	0.87932	D	0	.	11.8886	0.52616	0.1763:0.8236:0.0:0.0	.	146	Q9UIH9	KLF15_HUMAN	K	146	ENSP00000296233:E146K	ENSP00000296233:E146K	E	-	1	0	KLF15	127554020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.771000	0.85420	1.115000	0.41800	0.591000	0.81541	GAG	KLF15	-	NULL		0.587	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	C	NM_014079		126071330	-1	no_errors	ENST00000296233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126071330	C	T	126071330	3	4	118	1	0	0	0	0	1	0	0	0	8363	922	32	1	822	1	KLF15	3	126071330	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	13047442	126071330	71951100	40	18921										
PLD1	5337	genome.wustl.edu	37	chr3	171377057	171377057	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgcctatcttgttgaacacaActttgtcatcagcacagctt	6	12	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:171377057A>T	ENST00000351298.4	-	21	2501	c.2375T>A	c.(2374-2376)gTt>gAt	p.V792D	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.V792D|PLD1_ENST00000356327.5_Missense_Mutation_p.V754D	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	792	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTTGAACACAACTTTGTCATC	0.388																																					NSCLC(149;2174 3517 34058)												0													169	169	169					3																	171377057		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2375T>A	3.37:g.171377057A>T	ENSP00000342793:p.Val792Asp			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.V792D	ENST00000351298.4	37	c.2375	CCDS3216.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.57|15.57	2.873570|2.873570	0.51695|0.51695	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.28454	.|1.61;1.61;1.61	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.350601	.|0.28241	.|N	.|0.016069	T|T	0.28400|0.28400	0.0702|0.0702	N|N	0.16201|0.16201	0.385|0.385	0.80722|0.80722	D|D	1|1	.|B;B;B;P	.|0.41188	.|0.048;0.009;0.026;0.741	.|B;B;B;P	.|0.50708	.|0.052;0.022;0.087;0.648	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.12430	.|T	.|0.62	-24.6509|-24.6509	14.8791|14.8791	0.70519|0.70519	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|754;792;777;792	.|Q13393-2;Q13393-4;Q59EA4;Q13393	.|.;.;.;PLD1_HUMAN	M|D	55|754;792;792	.|ENSP00000348681:V754D;ENSP00000342793:V792D;ENSP00000340326:V792D	.|ENSP00000340326:V792D	L|V	-|-	1|2	2|0	PLD1|PLD1	172859751|172859751	0.718000|0.718000	0.27976|0.27976	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.860000|1.860000	0.39428|0.39428	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTG|GTT	PLD1	-	pirsf_PLipase_D_euk		0.388	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	A	NM_002662		171377057	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	missense	SNP	1.000	T	T	171377057	A	T	171377057	3	4	118	1	0	0	0	0	1	0	0	0	12069	43	2	5	877	5	PLD1	3	171377057	Missense_Mutation	SNP	A	TCGA-EK-A3GM-01A-11D-A20U-09	45305727	171377057	26645373	41	18922										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	118	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	7559025	178936082	19086348	42	18923										
KLHL6	89857	genome.wustl.edu	37	chr3	183209823	183209823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggcaggacgcactcctctgtCagtttctgggcctcggggtc	14	13	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:183209823C>T	ENST00000341319.3	-	7	1793	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	586					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACTCCTCTGTCAGTTTCTGGG	0.657																																																	0													99	94	96					3																	183209823		2203	4300	6503	SO:0001819	synonymous_variant	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1758G>A	3.37:g.183209823C>T			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L586	ENST00000341319.3	37	c.1758	CCDS3245.2	3																																																																																			KLHL6	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	C	NM_130446		183209823	-1	no_errors	ENST00000341319	ensembl	human	known	70_37	silent	SNP	1.000	T	T	183209823	C	T	183209823	2	4	118	1	0	0	0	0	0	0	0	1	8413	813	29	1		1	KLHL6	3	183209823	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	4273741	183209823	14812607	43	18924										
C3orf21	152002	genome.wustl.edu	37	chr3	194947453	194947453	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gttacctttgggcatgatctGatgcatggcgaccgagagga	14	8	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:194947453G>A	ENST00000310380.6	-	2	745	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	XXYLT1_ENST00000429994.1_Nonsense_Mutation_p.Q67*	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	213						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GGCATGATCTGATGCATGGCG	0.547																																																	0													106	109	108					3																	194947453		2075	4199	6274	SO:0001587	stop_gained	152002			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.637C>T	3.37:g.194947453G>A	ENSP00000309640:p.Gln213*		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Nonsense_Mutation	SNP	pfam_Glyco_trans_8	p.Q213*	ENST00000310380.6	37	c.637	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	G	6.726	0.502662	0.12822	.	.	ENSG00000173950	ENST00000310380;ENST00000429994;ENST00000458652	.	.	.	4.61	2.7	0.31948	.	0.422419	0.27631	N	0.018515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	10.6025	0.45375	0.0:0.1447:0.705:0.1503	.	.	.	.	X	213;67;67	.	ENSP00000309640:Q213X	Q	-	1	0	C3orf21	196428742	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	6.271000	0.72569	0.568000	0.29311	-0.293000	0.09583	CAG	XXYLT1	-	pfam_Glyco_trans_8		0.547	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	G	NM_152531		194947453	-1	no_errors	ENST00000310380	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	194947453	G	A	194947453	4	1	118	1	0	0	0	0	0	1	0	0	2219	1299	45	1	556	1	C3orf21	3	194947453	Nonsense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	11737630	194947453	3074977	44	18925										
MUC20	200958	genome.wustl.edu	37	chr3	195453054	195453054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agctctggtcacagttagcaGgaatccccttgaagaaacct	9	11	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195453054G>A	ENST00000447234.2	+	2	1706	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	MUC20_ENST00000436408.1_Missense_Mutation_p.R527K|MUC20_ENST00000320736.6_Missense_Mutation_p.R356K|MUC20_ENST00000445522.2_Missense_Mutation_p.R492K	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	527	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.	VTVSR -> ATG (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACAGTTAGCAGGAATCCCCTT	0.582																																																	0													61	59	60					3																	195453054		2073	4199	6272	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1580G>A	3.37:g.195453054G>A	ENSP00000414350:p.Arg527Lys		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.R527K	ENST00000447234.2	37	c.1580		3	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173980	0.01646	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.14893	2.89;2.92;3.06;2.47	3.97	-7.94	0.01152	.	2.755910	0.01423	N	0.014426	T	0.06462	0.0166	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33007	-0.9885	10	0.02654	T	1	18.6067	4.4891	0.11805	0.1119:0.4734:0.2452:0.1694	.	356	E9PH32	.	K	527;356;527;492	ENSP00000414350:R527K;ENSP00000325431:R356K;ENSP00000396774:R527K;ENSP00000405629:R492K	ENSP00000325431:R356K	R	+	2	0	MUC20	196938725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.935000	0.01550	-2.508000	0.00506	-1.284000	0.01376	AGG	MUC20	-	NULL		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	G	NM_152673		195453054	1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.000	A	A	195453054	G	A	195453054	3	1	118	1	0	0	0	0	1	0	0	0	9999	1000	35	4	1077	4	MUC20	3	195453054	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	505601	195453054	2569376	45	18926										
C4orf23	152992	genome.wustl.edu	37	chr4	8469914	8469914	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gaccctggctacctggatttCatcccagagaaaaggctgag	11	11	1	2	rs565699312		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:8469914C>G	ENST00000389737.4	+	9	1768	c.1768C>G	c.(1768-1770)Cat>Gat	p.H590D	TRMT44_ENST00000513449.2_Missense_Mutation_p.H349D	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	590					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ACCTGGATTTCATCCCAGAGA	0.572																																																	0													41	43	42					4																	8469914		2203	4300	6503	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1768C>G	4.37:g.8469914C>G	ENSP00000374387:p.His590Asp		Q8NA95	Missense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.H590D	ENST00000389737.4	37	c.1768	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	C	9.022	0.985235	0.18889	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.16597	2.34;2.33	4.83	3.01	0.34805	.	0.524430	0.19753	N	0.106859	T	0.11196	0.0273	N	0.22421	0.69	0.21220	N	0.999751	B;B	0.21147	0.015;0.052	B;B	0.23574	0.006;0.047	T	0.22730	-1.0208	10	0.51188	T	0.08	-0.7292	7.0427	0.25029	0.1712:0.7399:0.0:0.0888	.	590;349	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	D	349;590;198	ENSP00000424643:H349D;ENSP00000374387:H590D	ENSP00000285635:H198D	H	+	1	0	METTL19	8520814	1.000000	0.71417	0.006000	0.13384	0.188000	0.23474	4.189000	0.58358	0.576000	0.29452	0.561000	0.74099	CAT	TRMT44	-	NULL		0.572	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	C	NM_152544		8469914	1	no_errors	ENST00000389737	ensembl	human	known	70_37	missense	SNP	0.933	G	G	8469914	C	G	8469914	3	3	118	1	0	0	0	0	1	0	0	0	2261	826	29	1	1802	1	C4orf23	4	8469914	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		8469914	182684362	46	18927										
BOD1L	259282	genome.wustl.edu	37	chr4	13583866	13583866	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aaaagcacatctcacctcctGagattttatggtgtcatcat	6	10	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:13583866G>A	ENST00000040738.5	-	19	8722	c.8587C>T	c.(8587-8589)Cag>Tag	p.Q2863*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2863						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTCACCTCCTGAGATTTTATG	0.333																																																	0													128	122	124					4																	13583866		2203	4300	6503	SO:0001587	stop_gained	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8587C>T	4.37:g.13583866G>A	ENSP00000040738:p.Gln2863*		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.Q2863*	ENST00000040738.5	37	c.8587	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	49	15.171582	0.99825	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.61	5.61	0.85477	.	0.259916	0.27447	N	0.019335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.1689	12.8486	0.57844	0.0:0.1637:0.8363:0.0	.	.	.	.	X	2863	.	ENSP00000040738:Q2863X	Q	-	1	0	BOD1L	13192964	1.000000	0.71417	0.994000	0.49952	0.717000	0.41224	3.365000	0.52335	2.631000	0.89168	0.650000	0.86243	CAG	BOD1L1	-	NULL		0.333	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	G	NM_148894		13583866	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	nonsense	SNP	0.995	A	A	13583866	G	A	13583866	4	1	118	1	0	0	0	0	0	1	0	0	1484	1299	45	1	600	1	BOD1L	4	13583866	Nonsense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	5113952	13583866	177570410	47	18928										
GSTCD	79807	genome.wustl.edu	37	chr4	106640343	106640343	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agctagagaaaaagcttagtGagcctgttagagtgcataat	11	5	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:106640343G>A	ENST00000515279.1	+	3	773	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	185	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453																																																	0													108	117	114					4																	106640343		2203	4300	6503	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.553G>A	4.37:g.106640343G>A	ENSP00000422354:p.Glu185Lys		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.E185K	ENST00000515279.1	37	c.553	CCDS43257.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.389752	0.95988	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	5.17	0.71159	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.104475	0.64402	D	0.000004	T	0.78381	0.4274	M	0.73962	2.25	0.80722	D	1	D;D	0.62365	0.991;0.966	D;P	0.64506	0.926;0.794	T	0.78550	-0.2161	9	0.48119	T	0.1	-1.6532	18.8657	0.92292	0.0:0.0:1.0:0.0	.	98;185	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	K	98;98;185;185;185	.	ENSP00000353695:E185K	E	+	1	0	GSTCD	106859792	1.000000	0.71417	0.947000	0.38551	0.986000	0.74619	8.880000	0.92407	2.684000	0.91462	0.650000	0.86243	GAG	GSTCD	-	superfamily_Glutathione-S-Trfase_C-like		0.453	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	HGNC	protein_coding	OTTHUMT00000363981.1	G	NM_024751		106640343	1	no_errors	ENST00000360505	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106640343	G	A	106640343	3	1	118	1	0	0	0	0	1	0	0	0	6855	1291	45	1	559	1	GSTCD	4	106640343	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	93056477	106640343	84513933	48	18929										
HSPA4L	22824	genome.wustl.edu	37	chr4	128726255	128726255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	acgtgaagacattagtagtaTagaaattgtaggaggagcaa	12	3	0	3	rs139697778		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:128726255T>C	ENST00000296464.4	+	9	1424	c.1013T>C	c.(1012-1014)aTa>aCa	p.I338T	HSPA4L_ENST00000508776.1_Missense_Mutation_p.I338T|HSPA4L_ENST00000439123.2_Missense_Mutation_p.I369T|HSPA4L_ENST00000505726.1_Missense_Mutation_p.I312T	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	338					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATTAGTAGTATAGAAATTGTA	0.318																																																	0								T	THR/ILE	0,4406		0,0,2203	43	43	43		1013	4.7	1	4	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense	HSPA4L	NM_014278.2	89	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	338/840	128726255	1,13003	2203	4299	6502	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1013T>C	4.37:g.128726255T>C	ENSP00000296464:p.Ile338Thr		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I369T	ENST00000296464.4	37	c.1106	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179925	0.78564	0.0	1.16E-4	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.71	4.71	0.59529	Heat shock protein 70, conserved site (1);	0.119512	0.56097	D	0.000021	T	0.59528	0.2200	M	0.87900	2.915	0.58432	D	0.999998	P;D;D	0.53619	0.908;0.961;0.961	P;P;P	0.56343	0.796;0.655;0.655	T	0.68961	-0.5271	10	0.87932	D	0	.	14.6369	0.68696	0.0:0.0:0.0:1.0	.	312;338;338	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	T	338;369;338;297;312	ENSP00000422482:I338T;ENSP00000393926:I369T;ENSP00000296464:I338T;ENSP00000427305:I297T;ENSP00000425645:I312T	ENSP00000296464:I338T	I	+	2	0	HSPA4L	128945705	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.236000	0.78154	2.108000	0.64289	0.533000	0.62120	ATA	HSPA4L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam		0.318	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	T	NM_014278		128726255	1	no_errors	ENST00000439123	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128726255	T	C	128726255	3	2	118	1	0	0	0	0	1	0	0	0	7433	1406	49	5	1047	5	HSPA4L	4	128726255	Missense_Mutation	SNP	T	TCGA-EK-A3GM-01A-11D-A20U-09	22085912	128726255	62428021	49	18930										
SMARCA5	8467	genome.wustl.edu	37	chr4	144469252	144469252	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agtgtattcgcaactctcctCagttcagatttgactggttt	8	9	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:144469252C>T	ENST00000283131.3	+	22	3406	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	982	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CAACTCTCCTCAGTTCAGATT	0.383																																																	0													85	81	83					4																	144469252		2203	4300	6503	SO:0001587	stop_gained	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2944C>T	4.37:g.144469252C>T	ENSP00000283131:p.Gln982*			Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q982*	ENST00000283131.3	37	c.2944	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.773763	0.99601	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	.	.	.	5.93	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-2.8214	16.9722	0.86303	0.0:0.8723:0.1277:0.0	.	.	.	.	X	982;925;925	.	ENSP00000283131:Q982X	Q	+	1	0	SMARCA5	144688702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.075000	0.71261	1.470000	0.48102	0.655000	0.94253	CAG	SMARCA5	-	pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb		0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	C			144469252	1	no_errors	ENST00000283131	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	144469252	C	T	144469252	4	4	118	1	0	0	0	0	0	1	0	0	14801	827	29	1	3030	1	SMARCA5	4	144469252	Nonsense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	15742997	144469252	46685024	50	18931										
POU4F2	5458	genome.wustl.edu	37	chr4	147561325	147561325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgctggagcacctgagtcccGggctggccctgggcgctatg	16	13	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:147561325G>A	ENST00000281321.3	+	2	843	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	199					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCTGAGTCCCGGGCTGGCCCT	0.716																																																	0													14	16	16					4																	147561325		2195	4290	6485	SO:0001583	missense	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.595G>A	4.37:g.147561325G>A	ENSP00000281321:p.Gly199Arg		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.G199R	ENST00000281321.3	37	c.595	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346940	0.61183	.	.	ENSG00000151615	ENST00000281321	D	0.84298	-1.83	5.63	5.63	0.86233	.	.	.	.	.	D	0.83046	0.5169	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.49752	0.621	T	0.82157	-0.0596	9	0.34782	T	0.22	.	15.908	0.79445	0.0:0.1355:0.8645:0.0	.	199	Q12837	PO4F2_HUMAN	R	199	ENSP00000281321:G199R	ENSP00000281321:G199R	G	+	1	0	POU4F2	147780775	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.707000	0.68370	2.660000	0.90430	0.313000	0.20887	GGG	POU4F2	-	NULL		0.716	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	G	NM_004575		147561325	1	no_errors	ENST00000281321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147561325	G	A	147561325	3	1	118	1	0	0	0	0	1	0	0	0	12303	1116	39	2	601	2	POU4F2	4	147561325	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	3092073	147561325	43592951	51	18932										
GUCY1B3	2983	genome.wustl.edu	37	chr4	156723668	156723668	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atgaagatcgtcaacctcctCaacgacctctacaccagatt	5	14	3	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:156723668C>G	ENST00000264424.8	+	10	1432	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	GUCY1B3_ENST00000507146.1_Silent_p.L425L|GUCY1B3_ENST00000503520.1_Silent_p.L417L|GUCY1B3_ENST00000502959.1_Silent_p.L472L|GUCY1B3_ENST00000505764.1_Silent_p.L430L|GUCY1B3_ENST00000505154.1_Silent_p.L382L|GUCY1B3_ENST00000513437.1_Silent_p.L382L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	450	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCAACCTCCTCAACGACCTCT	0.458																																																	0													82	82	82					4																	156723668		2031	4200	6231	SO:0001819	synonymous_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1350C>G	4.37:g.156723668C>G			B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L450	ENST00000264424.8	37	c.1350	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.458	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	C			156723668	1	no_errors	ENST00000264424	ensembl	human	known	70_37	silent	SNP	1.000	G	G	156723668	C	G	156723668	2	3	118	1	0	0	0	0	0	0	0	1	6915	813	29	1		1	GUCY1B3	4	156723668	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	9162343	156723668	34430608	52	18933										
GALNT7	51809	genome.wustl.edu	37	chr4	174169343	174169343	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atcatgcagaggcagtatctCacatttaagcctcagacatt	7	10	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:174169343C>T	ENST00000265000.4	+	2	422	c.339C>T	c.(337-339)ctC>ctT	p.L113L	GALNT7_ENST00000512285.1_Silent_p.L113L	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGCAGTATCTCACATTTAAGC	0.463																																																	0													89	80	83					4																	174169343		2203	4300	6503	SO:0001819	synonymous_variant	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.339C>T	4.37:g.174169343C>T			B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L113	ENST00000265000.4	37	c.339	CCDS3815.1	4																																																																																			GALNT7	-	NULL		0.463	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	C	NM_017423		174169343	1	no_errors	ENST00000265000	ensembl	human	known	70_37	silent	SNP	1.000	T	T	174169343	C	T	174169343	2	4	118	1	0	0	0	0	0	0	0	1	6237	813	29	1		1	GALNT7	4	174169343	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	17445675	174169343	16984933	53	18934										
CEP72	55722	genome.wustl.edu	37	chr5	635548	635548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgtggggactctgggaagcaGggccgtgagacgaggaggag	21	6	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:635548G>A	ENST00000264935.5	+	6	843	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CEP72_ENST00000444221.1_Missense_Mutation_p.G192R	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	251					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CTGGGAAGCAGGGCCGTGAGA	0.507																																																	0													49	46	47					5																	635548		2203	4300	6503	SO:0001819	synonymous_variant	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.753G>A	5.37:g.635548G>A			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.G192R	ENST00000264935.5	37	c.574	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874718	0.51695	.	.	ENSG00000112877	ENST00000444221	T	0.23754	1.89	4.5	-0.584	0.11702	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32107	-0.9919	6	0.87932	D	0	-16.9497	7.891	0.29677	0.6187:0.0:0.3813:0.0	.	.	.	.	R	192	ENSP00000392052:G192R	ENSP00000392052:G192R	G	+	1	0	CEP72	688548	0.225000	0.23685	0.007000	0.13788	0.034000	0.12701	0.241000	0.18065	-0.040000	0.13580	0.563000	0.77884	GGG	CEP72	-	NULL		0.507	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		635548	1	no_errors	ENST00000444221	ensembl	human	known	70_37	missense	SNP	0.057	A	A	635548	G	A	635548	2	1	118	1	0	0	0	0	0	0	0	1	3265	991	35	4		4	CEP72	5	635548	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		635548	180279712	54	18935										
TAF9	6880	genome.wustl.edu	37	chr5	68660976	68660976	+	Missense_Mutation	SNP	G	G	T													0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aattgaagcttttacagctgGagactgagaagtaggcatct							TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:68660976G>T	ENST00000328663.4	-	3	1055	c.589C>A	c.(589-591)Cca>Aca	p.P197T	TAF9_ENST00000217893.5_Missense_Mutation_p.P197T|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.P197T|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	197					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTTACAGCTGGAGACTGAGAA	0.423																																																	0													141	136	138					5																	68660976		2203	4300	6503	SO:0001583	missense	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.589C>A	5.37:g.68660976G>T	ENSP00000370193:p.Pro197Thr		D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold	p.P197T	ENST00000328663.4	37	c.589	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498402	0.26861	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245	T;T;T;T	0.43294	1.4;1.4;1.4;0.95	5.69	4.81	0.61882	.	0.286252	0.39687	N	0.001287	T	0.23532	0.0569	N	0.24115	0.695	0.31133	N	0.707487	B	0.15473	0.013	B	0.14023	0.01	T	0.17198	-1.0377	10	0.08381	T	0.77	-14.8897	8.019	0.30398	0.1681:0.0:0.8319:0.0	.	197	Q16594	TAF9_HUMAN	T	197	ENSP00000421873:P197T;ENSP00000370193:P197T;ENSP00000217893:P197T;ENSP00000425944:P197T	ENSP00000217893:P197T	P	-	1	0	TAF9	68696732	0.998000	0.40836	1.000000	0.80357	0.895000	0.52256	1.194000	0.32174	2.859000	0.98148	0.591000	0.81541	CCA	TAF9	-	NULL		0.423	TAF9-201	KNOWN	basic|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216803.1	G	NM_003187		68660976	-1	no_errors	ENST00000217893	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68660976	G	T	68660976	3	4	118	1	0	0	0	0	1	0	0	0	15565	1174	41	3	619	3	TAF9	5	68660976	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	68025428	68660976	112254284	55	18936	112	2								
TAF9	6880	genome.wustl.edu	37	chr5	68660982	68660982	+	Nonsense_Mutation	SNP	G	G	A													0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agcttttacagctggagactGagaagtaggcatctgtactg							TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:68660982G>A	ENST00000328663.4	-	3	1049	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	TAF9_ENST00000217893.5_Nonsense_Mutation_p.Q195*|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Nonsense_Mutation_p.Q195*|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	195					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGGAGACTGAGAAGTAGGC	0.438																																																	0													140	135	136					5																	68660982		2203	4300	6503	SO:0001587	stop_gained	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.583C>T	5.37:g.68660982G>A	ENSP00000370193:p.Gln195*		D3DWA3|Q5U0D1|Q9BTS1	Nonsense_Mutation	SNP	pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold	p.Q195*	ENST00000328663.4	37	c.583	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.685064	0.96784	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.2984	17.6839	0.88251	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000217893:Q195X	Q	-	1	0	TAF9	68696738	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	8.397000	0.90193	2.859000	0.98148	0.591000	0.81541	CAG	TAF9	-	NULL		0.438	TAF9-201	KNOWN	basic|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216803.1	G	NM_003187		68660982	-1	no_errors	ENST00000217893	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	68660982	G	A	68660982	4	1	118	1	0	0	0	0	0	1	0	0	15565	1299	45	1	625	1	TAF9	5	68660982	Nonsense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	6	68660982	112254278	56	18937	112	2								
EPB41L4A	64097	genome.wustl.edu	37	chr5	111576451	111576451	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgttccacactgcacttccaGaggtgcttgcaagcagtttt	9	11	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:111576451G>A	ENST00000261486.5	-	10	1128	c.852C>T	c.(850-852)ctC>ctT	p.L284L	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	284	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGCACTTCCAGAGGTGCTTGC	0.323																																																	0													72	68	69					5																	111576451		1813	4086	5899	SO:0001819	synonymous_variant	64097			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.852C>T	5.37:g.111576451G>A			A4FUI6	Silent	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L284	ENST00000261486.5	37	c.852	CCDS43350.1	5																																																																																			EPB41L4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.323	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	G			111576451	-1	no_errors	ENST00000261486	ensembl	human	known	70_37	silent	SNP	1.000	A	A	111576451	G	A	111576451	2	1	118	1	0	0	0	0	0	0	0	1	5167	929	33	1		1	EPB41L4A	5	111576451	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	42915469	111576451	69338809	57	18938										
YTHDC2	64848	genome.wustl.edu	37	chr5	112878116	112878116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggttaataaaggaaatggatGcttgcctttctgatatatgg	11	4	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:112878116G>A	ENST00000161863.4	+	10	1624	c.1411G>A	c.(1411-1413)Gct>Act	p.A471T	YTHDC2_ENST00000515883.1_Missense_Mutation_p.A471T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	471					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGAAATGGATGCTTGCCTTTC	0.289																																																	0													177	177	177					5																	112878116		2202	4299	6501	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1411G>A	5.37:g.112878116G>A	ENSP00000161863:p.Ala471Thr		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A471T	ENST00000161863.4	37	c.1411	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	9.589	1.125540	0.20959	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06687	4.28;3.27	5.14	4.27	0.50696	.	0.238237	0.42294	N	0.000738	T	0.05502	0.0145	N	0.22421	0.69	0.31483	N	0.666956	B	0.20988	0.05	B	0.15484	0.013	T	0.20042	-1.0287	10	0.15952	T	0.53	.	9.6604	0.39952	0.0768:0.0:0.7743:0.1489	.	471	Q9H6S0	YTDC2_HUMAN	T	471;471;381	ENSP00000161863:A471T;ENSP00000423101:A471T	ENSP00000161863:A471T	A	+	1	0	YTHDC2	112906015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.604000	0.46274	1.300000	0.44818	0.650000	0.86243	GCT	YTHDC2	-	NULL		0.289	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112878116	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112878116	G	A	112878116	3	1	118	1	0	0	0	0	1	0	0	0	17528	1319	46	4	1449	4	YTHDC2	5	112878116	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1301665	112878116	68037144	58	18939										
PCDHB5	26167	genome.wustl.edu	37	chr5	140516882	140516882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atgtgggcgcacaatggcgaGgtgcgcaccgccaggctgct	16	12	0	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:140516882G>A	ENST00000231134.5	+	1	2083	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGGTGCGCACCG	0.701																																																	0													43	45	44					5																	140516882		2155	4204	6359	SO:0001819	synonymous_variant	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1866G>A	5.37:g.140516882G>A			Q549F4|Q9UFU9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E622	ENST00000231134.5	37	c.1866	CCDS4247.1	5																																																																																			PCDHB5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	G	NM_015669		140516882	1	no_errors	ENST00000231134	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140516882	G	A	140516882	2	1	118	1	0	0	0	0	0	0	0	1	11569	991	35	4		4	PCDHB5	5	140516882	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	27638766	140516882	40398378	59	18940										
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744136	140744136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gctttttgccctgaacccgcGaagcggcagcttggtcaccg	12	14	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:140744136G>A	ENST00000518069.1	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.602																																																	0													50	60	57					5																	140744136		2194	4298	6492	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.239G>A	5.37:g.140744136G>A	ENSP00000429834:p.Arg80Gln		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R80Q	ENST00000518069.1	37	c.239	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	6.638	0.486140	0.12641	.	.	ENSG00000253485	ENST00000518069	T	0.26810	1.71	5.38	4.5	0.54988	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20577	0.0495	L	0.48642	1.525	0.09310	N	1	B;B	0.33940	0.379;0.433	B;B	0.31751	0.083;0.135	T	0.22208	-1.0223	9	0.48119	T	0.1	.	4.7592	0.13099	0.1796:0.0:0.6384:0.182	.	80;80	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	80	ENSP00000429834:R80Q	ENSP00000429834:R80Q	R	+	2	0	PCDHGA5	140724320	0.000000	0.05858	0.216000	0.23742	0.099000	0.18886	0.461000	0.21940	1.397000	0.46682	0.558000	0.71614	CGA	PCDHGA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140744136	1	no_errors	ENST00000518069	ensembl	human	known	70_37	missense	SNP	0.102	A	A	140744136	G	A	140744136	3	1	118	1	0	0	0	0	1	0	0	0	11581	1058	37	1	241	1	PCDHGA5	5	140744136	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	227254	140744136	40171124	60	18941										
SYNPO	11346	genome.wustl.edu	37	chr5	150028756	150028756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tggggcagcgaagcccggccTcagagagacgccccttgggg	17	13	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:150028756T>C	ENST00000394243.1	+	3	2025	c.1651T>C	c.(1651-1653)Tca>Cca	p.S551P	SYNPO_ENST00000307662.4_Missense_Mutation_p.S307P|SYNPO_ENST00000519664.1_Missense_Mutation_p.S307P|SYNPO_ENST00000522122.1_Missense_Mutation_p.S551P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	551					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCCGGCCTCAGAGAGACG	0.632																																																	0													42	51	48					5																	150028756		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1651T>C	5.37:g.150028756T>C	ENSP00000377789:p.Ser551Pro		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S551P	ENST00000394243.1	37	c.1651	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	T	5.847	0.340541	0.11069	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24151	1.9;1.9;1.87	5.18	-0.971	0.10303	.	1.880000	0.02965	N	0.143711	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.17745	-1.0359	10	0.35671	T	0.21	-0.2193	1.5429	0.02559	0.1539:0.1111:0.3163:0.4187	.	307;551	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	P	551;551;307;307	ENSP00000377789:S551P;ENSP00000428378:S551P;ENSP00000429268:S307P	ENSP00000302139:S307P	S	+	1	0	SYNPO	150008949	0.000000	0.05858	0.164000	0.22755	0.343000	0.28985	-1.434000	0.02425	-0.059000	0.13154	0.459000	0.35465	TCA	SYNPO	-	NULL		0.632	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	T	NM_007286		150028756	1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.122	C	C	150028756	T	C	150028756	3	2	118	1	0	0	0	0	1	0	0	0	15486	1551	54	5	1657	5	SYNPO	5	150028756	Missense_Mutation	SNP	T	TCGA-EK-A3GM-01A-11D-A20U-09	9284620	150028756	30886504	61	18942										
ATP10B	23120	genome.wustl.edu	37	chr5	160071212	160071212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cagcctcgaagcagaagactCtcacagccaaagccagtcct	8	15	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:160071212C>G	ENST00000327245.5	-	9	1647	c.801G>C	c.(799-801)gaG>gaC	p.E267D		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	267					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGAAGACTCTCACAGCCAA	0.507																																																	0													113	115	114					5																	160071212		2015	4177	6192	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.801G>C	5.37:g.160071212C>G	ENSP00000313600:p.Glu267Asp		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E267D	ENST00000327245.5	37	c.801	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443525	0.43429	.	.	ENSG00000118322	ENST00000327245	T	0.74737	-0.87	4.8	2.03	0.26663	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	N	0.20401	0.57	0.42929	D	0.994318	P;B;B;P	0.41978	0.516;0.019;0.166;0.767	B;B;B;P	0.45138	0.267;0.091;0.108;0.471	T	0.50197	-0.8856	9	.	.	.	.	5.9956	0.19491	0.0:0.5195:0.0:0.4805	.	311;267;239;267	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	D	267	ENSP00000313600:E267D	.	E	-	3	2	ATP10B	160003790	0.995000	0.38212	1.000000	0.80357	0.937000	0.57800	0.282000	0.18829	0.451000	0.26802	0.563000	0.77884	GAG	ATP10B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160071212	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.999	G	G	160071212	C	G	160071212	3	3	118	1	0	0	0	0	1	0	0	0	1118	912	32	1	3656	1	ATP10B	5	160071212	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	10042456	160071212	20844048	62	18943										
LCP2	3937	genome.wustl.edu	37	chr5	169724598	169724598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aggacctctgagcgaaagggCacattcctcagtgccatggc	12	12	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:169724598C>T	ENST00000046794.5	-	1	633	c.18G>A	c.(16-18)gtG>gtA	p.V6V		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	6					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AGCGAAAGGGCACATTCCTCA	0.562																																																	0													40	42	41					5																	169724598		1986	4164	6150	SO:0001819	synonymous_variant	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.18G>A	5.37:g.169724598C>T			A8KA25|Q53XV4	Silent	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.V6	ENST00000046794.5	37	c.18	CCDS47339.1	5																																																																																			LCP2	-	NULL		0.562	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	C	NM_005565		169724598	-1	no_errors	ENST00000046794	ensembl	human	known	70_37	silent	SNP	0.096	T	T	169724598	C	T	169724598	2	4	118	1	0	0	0	0	0	0	0	1	8712	697	25	4		4	LCP2	5	169724598	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	9653386	169724598	11190662	63	18944										
TRIM52	84851	genome.wustl.edu	37	chr5	180687567	180687567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcccccgatacaacacctctCgaatggagccgtcccatcca	6	18	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:180687567C>T	ENST00000327767.4	-	1	552	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	83	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CAACACCTCTCGAATGGAGCC	0.547																																																	0													186	146	160					5																	180687567		2203	4300	6503	SO:0001583	missense	84851				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.248G>A	5.37:g.180687567C>T	ENSP00000332152:p.Arg83Gln			Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R83Q	ENST00000327767.4	37	c.248	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	c	12.75	2.032979	0.35893	.	.	ENSG00000183718	ENST00000327767	T	0.24151	1.87	3.16	2.25	0.28309	Zinc finger, RING-type (1);	.	.	.	.	T	0.20129	0.0484	L	0.32530	0.975	0.09310	N	1	D	0.65815	0.995	P	0.44673	0.457	T	0.08576	-1.0715	8	.	.	.	.	7.9806	0.30181	0.2451:0.7548:0.0:0.0	.	83	Q96A61	TRI52_HUMAN	Q	83	ENSP00000332152:R83Q	.	R	-	2	0	TRIM52	180620173	0.005000	0.15991	0.059000	0.19551	0.128000	0.20619	0.579000	0.23788	0.596000	0.29794	-0.428000	0.05917	CGA	TRIM52	-	smart_Znf_RING		0.547	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	C	NM_032765		180687567	-1	no_errors	ENST00000327767	ensembl	human	known	70_37	missense	SNP	0.056	T	T	180687567	C	T	180687567	3	4	118	1	0	0	0	0	1	0	0	0	16558	884	31	1	653	1	TRIM52	5	180687567	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	10962969	180687567	227693	64	18945										
DSP	1832	genome.wustl.edu	37	chr6	7555992	7555996	+	Frame_Shift_Del	DEL	TCCAG	TCCAG	-													0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcaccagaaccagaacaccaTccaggagctgctgcagaact					rs397516923		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	TCCAG	TCCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:7555992_7555996delTCCAG	ENST00000379802.3	+	2	553_557	c.212_216delTCCAG	c.(211-216)atccagfs	p.IQ71fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.IQ71fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	71	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGAACACCATCCAGGAGCTGCTGC	0.507																																																	0																																										SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.212_216delTCCAG	6.37:g.7555992_7555996delTCCAG	ENSP00000369129:p.Ile71fs		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I71fs	ENST00000379802.3	37	c.212_216	CCDS4501.1	6																																																																																			DSP	-	NULL		0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	TCCAG	NM_004415		7555996	1	no_errors	ENST00000379802	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-	-	7555996	TCCAG	-	7555992	7	5	118	1	0	1	0	1	0	0	0	0	4791	1435	50	0	218	0	DSP	6	7555992	Frame_Shift_Del	DEL	TCCAG	TCGA-EK-A3GM-01A-11D-A20U-09		7555992	163559075	65	18946										
DSP	1832	genome.wustl.edu	37	chr6	7583547	7583547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccttcggggtgcaggatctAtcgctggagcatctgcttct	12	11	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:7583547A>G	ENST00000379802.3	+	24	6393	c.6052A>G	c.(6052-6054)Atc>Gtc	p.I2018V	DSP_ENST00000418664.2_Missense_Mutation_p.I1419V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2018	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCAGGATCTATCGCTGGAGC	0.463																																																	0													61	67	65					6																	7583547		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6052A>G	6.37:g.7583547A>G	ENSP00000369129:p.Ile2018Val		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I2018V	ENST00000379802.3	37	c.6052	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516525	0.27123	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.69926	-0.44;-0.44	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000015	T	0.70254	0.3203	M	0.73430	2.235	0.24318	N	0.995057	D;D	0.60575	0.988;0.958	D;P	0.69654	0.965;0.558	T	0.64537	-0.6384	10	0.18710	T	0.47	.	14.9582	0.71135	1.0:0.0:0.0:0.0	.	1466;2018	Q4LE79;P15924	.;DESP_HUMAN	V	2018;1419	ENSP00000369129:I2018V;ENSP00000396591:I1419V	ENSP00000369129:I2018V	I	+	1	0	DSP	7528546	1.000000	0.71417	0.093000	0.20910	0.975000	0.68041	9.213000	0.95133	1.990000	0.58119	0.533000	0.62120	ATC	DSP	-	smart_Plectin_repeat		0.463	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	A	NM_004415		7583547	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	0.997	G	G	7583547	A	G	7583547	3	3	118	1	0	0	0	0	1	0	0	0	4791	449	16	5	6146	5	DSP	6	7583547	Missense_Mutation	SNP	A	TCGA-EK-A3GM-01A-11D-A20U-09	27555	7583547	163531520	66	18947										
RANBP9	10048	genome.wustl.edu	37	chr6	13644799	13644799	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttgtatcatggtctgccattCtccttctcgatctccgatag	7	12	5	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:13644799C>G	ENST00000011619.3	-	6	1148	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.E135Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	364					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTCTGCCATTCTCCTTCTCGA	0.378																																																	0													142	136	138					6																	13644799		2203	4300	6503	SO:0001583	missense	10048			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1090G>C	6.37:g.13644799C>G	ENSP00000011619:p.Glu364Gln		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E364Q	ENST00000011619.3	37	c.1090	CCDS4529.1	6	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315753	0.60524	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.79247	-1.25	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	L	0.51422	1.61	0.58432	D	0.999999	D	0.67145	0.996	P	0.60012	0.867	T	0.79605	-0.1734	10	0.44086	T	0.13	-22.041	19.037	0.92983	0.0:1.0:0.0:0.0	.	364	Q96S59	RANB9_HUMAN	Q	364;135	ENSP00000011619:E364Q	ENSP00000011619:E364Q	E	-	1	0	RANBP9	13752778	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.050000	0.71063	2.557000	0.86248	0.557000	0.71058	GAA	RANBP9	-	NULL		0.378	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP9	HGNC	protein_coding	OTTHUMT00000042373.1	C			13644799	-1	no_errors	ENST00000011619	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13644799	C	G	13644799	3	3	118	1	0	0	0	0	1	0	0	0	13062	922	32	1	1135	1	RANBP9	6	13644799	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	6061252	13644799	157470268	67	18948										
BAK1	578	genome.wustl.edu	37	chr6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cctcctgttcctgctgatggCggtaaaaaacgtagctgcgg	12	11	0	1	rs1051911		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000442998.2_Missense_Mutation_p.R42H|BAK1_ENST00000360661.5_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602																																																	0													89	80	83					6																	33543651		2203	4300	6503	SO:0001583	missense	578			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.125G>A	6.37:g.33543651C>T	ENSP00000363591:p.Arg42His		C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.R42H	ENST00000374467.3	37	c.125	CCDS4781.1	6	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747074	0.69418	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.05199	3.48;3.48;3.48	3.83	2.92	0.33932	.	0.614391	0.15450	N	0.261712	T	0.09512	0.0234	L	0.55481	1.735	0.34011	D	0.651427	D;D	0.89917	1.0;1.0	D;D	0.70716	0.938;0.97	T	0.04153	-1.0973	10	0.66056	D	0.02	-10.8213	9.6727	0.40021	0.2178:0.7822:0.0:0.0	rs1051911;rs3173268	42;42	B4E0L2;Q16611	.;BAK_HUMAN	H	42	ENSP00000363591:R42H;ENSP00000391258:R42H;ENSP00000353878:R42H	ENSP00000353878:R42H	R	-	2	0	BAK1	33651629	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	3.384000	0.52478	0.912000	0.36772	0.456000	0.33151	CGC	BAK1	-	NULL		0.602	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAK1	HGNC	protein_coding	OTTHUMT00000040202.1	C	NM_001188		33543651	-1	no_errors	ENST00000360661	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33543651	C	T	33543651	3	4	118	1	0	0	0	0	1	0	0	0	1306	768	27	2	526	2	BAK1	6	33543651	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	19898852	33543651	137571416	68	18949										
ZNF318	24149	genome.wustl.edu	37	chr6	43305622	43305622	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcacacactttctgacacaaGacagttggggatctatgtgc	9	10	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:43305622G>C	ENST00000361428.2	-	10	6191	c.6114C>G	c.(6112-6114)gtC>gtG	p.V2038V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2038					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGACACAAGACAGTTGGGG	0.473																																																	0													92	84	87					6																	43305622		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6114C>G	6.37:g.43305622G>C			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.V2038	ENST00000361428.2	37	c.6114	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	G	NM_014345		43305622	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	0.002	C	C	43305622	G	C	43305622	2	2	118	1	0	0	0	0	0	0	0	1	17866	929	33	1		1	ZNF318	6	43305622	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	9761971	43305622	127809445	69	18950										
ABCC10	89845	genome.wustl.edu	37	chr6	43416925	43416925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgttgtgtttggccagggctCtcctcacagatgccaaggta	12	10	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:43416925C>T	ENST00000372530.4	+	20	4401	c.4186C>T	c.(4186-4188)Ctc>Ttc	p.L1396F	ABCC10_ENST00000244533.3_Missense_Mutation_p.L1368F	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1396	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCCAGGGCTCTCCTCACAGA	0.592																																																	0													87	86	86					6																	43416925		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4186C>T	6.37:g.43416925C>T	ENSP00000361608:p.Leu1396Phe		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1396F	ENST00000372530.4	37	c.4186	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076018	0.76415	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.95377	-3.69;-3.69	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.96688	0.8919	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.99	D	0.97219	0.9876	10	0.87932	D	0	1.5766	19.3083	0.94173	0.0:1.0:0.0:0.0	.	1368;1396	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	F	1396;1368;152	ENSP00000361608:L1396F;ENSP00000244533:L1368F	ENSP00000244533:L1368F	L	+	1	0	ABCC10	43524903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.914000	0.56401	2.588000	0.87417	0.585000	0.79938	CTC	ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43416925	1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43416925	C	T	43416925	3	4	118	1	0	0	0	0	1	0	0	0	50	913	32	1	4172	1	ABCC10	6	43416925	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	111303	43416925	127698142	70	18951										
RUNX2	860	genome.wustl.edu	37	chr6	45399640	45399640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	accagatgggactgtggttaCtgtcatggcgggtaacgatg	15	7	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:45399640C>T	ENST00000371438.1	+	3	822	c.464C>T	c.(463-465)aCt>aTt	p.T155I	RUNX2_ENST00000371436.6_Missense_Mutation_p.T155I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T223I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T141I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T223I|RUNX2_ENST00000576263.1_Missense_Mutation_p.T155I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T155I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T141I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	155	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTGTGGTTACTGTCATGGCG	0.453																																																	0													193	184	187					6																	45399640		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.464C>T	6.37:g.45399640C>T	ENSP00000360493:p.Thr155Ile		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.T223I	ENST00000371438.1	37	c.668	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069506	0.76301	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17;-6.17;-6.17;-6.17	4.96	4.96	0.65561	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.97110	0.996;1.0;0.93	D	0.98640	1.0675	10	0.62326	D	0.03	-6.9173	18.5833	0.91180	0.0:1.0:0.0:0.0	.	223;155;141	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	155;223;223;155;155;141;141	ENSP00000420707:T155I;ENSP00000319087:T223I;ENSP00000446290:T223I;ENSP00000360493:T155I;ENSP00000360491:T155I;ENSP00000352514:T141I;ENSP00000360486:T141I	ENSP00000319087:T223I	T	+	2	0	RUNX2	45507618	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.411000	0.80078	2.450000	0.82876	0.650000	0.86243	ACT	RUNX2	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt		0.453	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	C	NM_004348		45399640	1	no_errors	ENST00000352853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45399640	C	T	45399640	3	4	118	1	0	0	0	0	1	0	0	0	13778	565	20	4	490	4	RUNX2	6	45399640	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1982715	45399640	125715427	71	18952										
GPR111	222611	genome.wustl.edu	37	chr6	47649467	47649467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cagcaagtcagaggagaggaGgacacagtgtgttggctggc	17	7	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:47649467G>A	ENST00000296862.1	+	6	1172	c.1172G>A	c.(1171-1173)aGg>aAg	p.R391K	GPR111_ENST00000507065.1_Missense_Mutation_p.R323K|GPR111_ENST00000398742.2_Missense_Mutation_p.R323K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	391	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGGAGAGGAGGACACAGTGT	0.453																																																	0													92	92	92					6																	47649467		1935	4141	6076	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1172G>A	6.37:g.47649467G>A	ENSP00000296862:p.Arg391Lys		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R391K	ENST00000296862.1	37	c.1172		6	.	.	.	.	.	.	.	.	.	.	G	4.216	0.038867	0.08148	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.32988	2.2;2.19;1.43	5.52	2.55	0.30701	GPS domain (1);	0.475226	0.21740	N	0.069822	T	0.04724	0.0128	N	0.11818	0.18	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.22152	0.009;0.038	T	0.44997	-0.9291	10	0.15952	T	0.53	.	7.1734	0.25730	0.4058:0.0:0.5942:0.0	.	323;391	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	K	323;391;323	ENSP00000422934:R323K;ENSP00000296862:R391K;ENSP00000381727:R323K	ENSP00000296862:R391K	R	+	2	0	GPR111	47757426	0.000000	0.05858	0.021000	0.16686	0.962000	0.63368	0.238000	0.18004	0.195000	0.20347	0.585000	0.79938	AGG	GPR111	-	pfscan_GPS_dom		0.453	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47649467	1	no_errors	ENST00000296862	ensembl	human	known	70_37	missense	SNP	0.005	A	A	47649467	G	A	47649467	3	1	118	1	0	0	0	0	1	0	0	0	6647	1000	35	4	986	4	GPR111	6	47649467	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	2249827	47649467	123465600	72	18953										
COL21A1	81578	genome.wustl.edu	37	chr6	56035614	56035614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tttcttgactttaaatctttGagtagacacaaatacatatg	5	6	2	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:56035614G>C	ENST00000244728.5	-	5	1256	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E	COL21A1_ENST00000370819.1_Missense_Mutation_p.Q287E|COL21A1_ENST00000535941.1_Missense_Mutation_p.Q287E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	287	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTAAATCTTTGAGTAGACACA	0.343																																																	0													66	57	60					6																	56035614		1815	4076	5891	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.859C>G	6.37:g.56035614G>C	ENSP00000244728:p.Gln287Glu		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q287E	ENST00000244728.5	37	c.859	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177601	0.38413	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13538	2.58;2.58;2.58	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.133858	0.33477	N	0.004872	T	0.18551	0.0445	L	0.57536	1.79	0.80722	D	1	D;P	0.57257	0.979;0.931	P;B	0.53593	0.73;0.388	T	0.01444	-1.1353	10	0.66056	D	0.02	.	17.5385	0.87840	0.0:0.0:1.0:0.0	.	287;287	Q96P44-3;Q96P44	.;COLA1_HUMAN	E	287	ENSP00000244728:Q287E;ENSP00000359855:Q287E;ENSP00000444384:Q287E	ENSP00000244728:Q287E	Q	-	1	0	COL21A1	56143573	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.064000	0.64338	2.126000	0.65437	0.591000	0.81541	CAA	COL21A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	G			56035614	-1	no_errors	ENST00000244728	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56035614	G	C	56035614	3	2	118	1	0	0	0	0	1	0	0	0	3685	1299	45	1	2118	1	COL21A1	6	56035614	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	8386147	56035614	115079453	73	18954										
EYS	346007	genome.wustl.edu	37	chr6	66200538	66200538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	actatttgaagtaatattgcTgcagtttccatggaaacaga	8	6	0	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:66200538T>C	ENST00000370621.3	-	5	1337	c.811A>G	c.(811-813)Agc>Ggc	p.S271G	EYS_ENST00000370618.3_Missense_Mutation_p.S271G|EYS_ENST00000342421.5_Missense_Mutation_p.S271G|EYS_ENST00000503581.1_Missense_Mutation_p.S271G|EYS_ENST00000393380.2_Missense_Mutation_p.S271G|EYS_ENST00000370616.2_Missense_Mutation_p.S271G			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	271	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTAATATTGCTGCAGTTTCCA	0.294																																																	0													70	67	68					6																	66200538		2203	4292	6495	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.811A>G	6.37:g.66200538T>C	ENSP00000359655:p.Ser271Gly		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S271G	ENST00000370621.3	37	c.811		6	.	.	.	.	.	.	.	.	.	.	T	4.325	0.059621	0.08339	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.53	2.03	0.26663	.	.	.	.	.	T	0.52885	0.1762	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.12156	0.003;0.007;0.003	T	0.49551	-0.8928	9	0.62326	D	0.03	.	5.3059	0.15803	0.0:0.0946:0.1784:0.7269	.	271;271;271	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	G	271	ENSP00000424243:S271G;ENSP00000359655:S271G;ENSP00000359650:S271G;ENSP00000377042:S271G;ENSP00000341818:S271G;ENSP00000359652:S271G	ENSP00000341818:S271G	S	-	1	0	EYS	66257259	0.627000	0.27129	0.000000	0.03702	0.058000	0.15608	0.483000	0.22292	0.204000	0.20548	0.528000	0.53228	AGC	EYS	-	smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.294	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	T	XM_294050		66200538	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.012	C	C	66200538	T	C	66200538	3	2	118	1	0	0	0	0	1	0	0	0	5344	1580	55	5	8741	5	EYS	6	66200538	Missense_Mutation	SNP	T	TCGA-EK-A3GM-01A-11D-A20U-09	10164924	66200538	104914529	74	18955										
RIMS1	22999	genome.wustl.edu	37	chr6	72926938	72926938	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	actacttcatacattgcactCaggaacaggtaaactaaatt	5	9	2	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:72926938C>G	ENST00000521978.1	+	7	1678				RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.S16*|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACATTGCACTCAGGAACAGGT	0.303																																																	0													140	110	119					6																	72926938		692	1591	2283	SO:0001627	intron_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1679-16538C>G	6.37:g.72926938C>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S16*	ENST00000521978.1	37	c.47	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.776873	0.97829	.	.	ENSG00000079841	ENST00000517827	.	.	.	6.17	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4602	0.75349	0.0:0.934:0.0:0.066	.	.	.	.	X	16	.	ENSP00000428367:S16X	S	+	2	0	RIMS1	72983659	1.000000	0.71417	0.039000	0.18376	0.195000	0.23768	3.760000	0.55235	1.616000	0.50265	0.655000	0.94253	TCA	RIMS1	-	NULL		0.303	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			72926938	1	no_errors	ENST00000517827	ensembl	human	putative	70_37	nonsense	SNP	0.995	G	G	72926938	C	G	72926938	1	3	118	0	1	0	0	0	0	0	0	0	13397	838	29	1		1	RIMS1	6	72926938	Intron	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	6726400	72926938	98188129	75	18956										
FSCN1	6624	genome.wustl.edu	37	chr7	5643567	5643567	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgcggggagcatggcttcatCggctgccgcaaggtcacggg	17	12	2	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:5643567C>T	ENST00000382361.3	+	4	1299	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	FSCN1_ENST00000340250.6_Silent_p.I374I	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	395					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ATGGCTTCATCGGCTGCCGCA	0.592																																																	0													62	59	60					7																	5643567		2203	4300	6503	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1185C>T	7.37:g.5643567C>T			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.I395	ENST00000382361.3	37	c.1185	CCDS5342.1	7																																																																																			FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.592	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5643567	1	no_errors	ENST00000382361	ensembl	human	known	70_37	silent	SNP	0.220	T	T	5643567	C	T	5643567	2	4	118	1	0	0	0	0	0	0	0	1	6085	874	31	1		1	FSCN1	7	5643567	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		5643567	153495096	76	18957										
WBSCR17	64409	genome.wustl.edu	37	chr7	71177116	71177116	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggtcagaggtggaccattaaGaactccatcaagtagaggga	13	7	2	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:71177116G>A	ENST00000333538.5	+	11	2416	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	594	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGACCATTAAGAACTCCATCA	0.642																																																	0													62	59	60					7																	71177116		2203	4300	6503	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1782G>A	7.37:g.71177116G>A			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K594	ENST00000333538.5	37	c.1782	CCDS5540.1	7																																																																																			WBSCR17	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.642	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		71177116	1	no_errors	ENST00000333538	ensembl	human	known	70_37	silent	SNP	1.000	A	A	71177116	G	A	71177116	2	1	118	1	0	0	0	0	0	0	0	1	17295	933	33	1		1	WBSCR17	7	71177116	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	65533549	71177116	87961547	77	18958										
TYW1B	441250	genome.wustl.edu	37	chr7	72277881	72277881	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cttttaaccacgtcgcagtcGccctcccctcgactcatcac	5	19	2	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:72277881G>A	ENST00000435769.2	-	0	623				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CGTCGCAGTCGCCCTCCCCTC	0.522																																																	0													74	65	68					7																	72277881		692	1591	2283			441250			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277881G>A			A6NG09|B4DFY2|Q3KQX2	RNA	SNP	-	NULL	ENST00000435769.2	37	NULL		7																																																																																			TYW1B	-	-		0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	TYW1B	HGNC	polymorphic_pseudogene	OTTHUMT00000347346.2	G	NM_001145440		72277881	-1	no_errors	ENST00000437915	ensembl	human	known	70_37	rna	SNP	0.847	A	A	72277881	G	A	72277881	1	1	118	0	1	0	0	0	0	0	0	0	16850	1074	38	2		2	TYW1B	7	72277881	RNA	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1100765	72277881	86860782	78	18959										
CACNA2D1	781	genome.wustl.edu	37	chr7	81746416	81746416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgtgctgataagatatttgtCgtccaaaattagcatcttca	7	8	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:81746416C>T	ENST00000356253.5	-	6	725	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R157Q|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R157Q			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	157					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGATATTTGTCGTCCAAAATT	0.383																																																	0													154	138	144					7																	81746416		2203	4300	6503	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.470G>A	7.37:g.81746416C>T	ENSP00000348589:p.Arg157Gln		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R157Q	ENST00000356253.5	37	c.470		7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053721	0.75960	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.21932	3.31;3.33;1.98	5.39	5.39	0.77823	.	0.152818	0.44483	D	0.000460	T	0.18509	0.0444	L	0.46741	1.465	0.80722	D	1	P	0.45212	0.853	B	0.33295	0.161	T	0.05386	-1.0888	10	0.22109	T	0.4	-10.689	19.1616	0.93535	0.0:1.0:0.0:0.0	.	157	P54289-2	.	Q	157	ENSP00000349320:R157Q;ENSP00000348589:R157Q;ENSP00000405395:R157Q	ENSP00000284088:R157Q	R	-	2	0	CACNA2D1	81584352	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.644000	0.67902	2.529000	0.85273	0.555000	0.69702	CGA	CACNA2D1	-	pfam_VWA_N		0.383	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		C			81746416	-1	no_errors	ENST00000356253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81746416	C	T	81746416	3	4	118	1	0	0	0	0	1	0	0	0	2553	884	31	1	2941	1	CACNA2D1	7	81746416	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	9468535	81746416	77392247	79	18960										
PTCD1	26024	genome.wustl.edu	37	chr7	99032588	99032588	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccgggaggagtatttgtcaGagagggtcccaaaactctcc	12	10	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:99032588G>C	ENST00000292478.4	-	2	528	c.278C>G	c.(277-279)tCt>tGt	p.S93C	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S142C|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.S142C	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	93					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTATTTGTCAGAGAGGGTCCC	0.587																																																	0													103	110	108					7																	99032588		2203	4300	6503	SO:0001583	missense	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.278C>G	7.37:g.99032588G>C	ENSP00000292478:p.Ser93Cys		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.S142C	ENST00000292478.4	37	c.425	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240286	0.79912	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000413834	T;T;D;D;D;T	0.90563	-0.6;-0.55;-2.65;-2.69;-2.6;-0.55	5.97	5.97	0.96955	.	0.052685	0.85682	D	0.000000	D	0.95554	0.8555	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.968	D	0.94782	0.7954	10	0.54805	T	0.06	-21.33	20.428	0.99075	0.0:0.0:1.0:0.0	.	142;93	G3V325;O75127	.;PTCD1_HUMAN	C	93;142;93;93;93;142	ENSP00000292478:S93C;ENSP00000450995:S142C;ENSP00000390530:S93C;ENSP00000408059:S93C;ENSP00000401600:S93C;ENSP00000400168:S142C	ENSP00000400168:S142C	S	-	2	0	ATP5J2-PTCD1;PTCD1	98870524	1.000000	0.71417	0.813000	0.32504	0.328000	0.28507	9.078000	0.94023	2.837000	0.97791	0.655000	0.94253	TCT	PTCD1	-	NULL		0.587	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	G	NM_015545		99032588	-1	no_errors	ENST00000555673	ensembl	human	known	70_37	missense	SNP	0.998	C	C	99032588	G	C	99032588	3	2	118	1	0	0	0	0	1	0	0	0	12754	942	33	1	1852	1	PTCD1	7	99032588	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	17286172	99032588	60106075	80	18961										
CYP3A43	64816	genome.wustl.edu	37	chr7	99453276	99453276	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcggtttgtttccaaaagatGttacccattttttaaaaaat	5	6	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:99453276G>C	ENST00000354829.2	+	8	836	c.733G>C	c.(733-735)Gtt>Ctt	p.V245L	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Missense_Mutation_p.V135L|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.V245L|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.V245L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	245			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCCAAAAGATGTTACCCATTT	0.318																																																	0													59	56	57					7																	99453276		2201	4300	6501	SO:0001583	missense	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.733G>C	7.37:g.99453276G>C	ENSP00000346887:p.Val245Leu		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V245L	ENST00000354829.2	37	c.733	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417505	0.25552	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000312017;ENST00000222382	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	2.69	-1.17	0.09648	.	0.582845	0.17346	N	0.177564	T	0.50956	0.1646	M	0.66297	2.02	0.09310	N	1	B;B;B;B	0.12013	0.004;0.005;0.003;0.003	B;B;B;B	0.13407	0.005;0.009;0.009;0.009	T	0.41645	-0.9497	10	0.39692	T	0.17	.	3.9051	0.09178	0.1432:0.0:0.3021:0.5547	.	135;245;245;245	Q495Y1;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;CP343_HUMAN	L	245;135;245;245	ENSP00000346887:V245L;ENSP00000416581:V135L;ENSP00000312110:V245L;ENSP00000222382:V245L	ENSP00000222382:V245L	V	+	1	0	CYP3A43	99291212	0.000000	0.05858	0.003000	0.11579	0.732000	0.41865	-0.117000	0.10708	-0.031000	0.13781	0.195000	0.17529	GTT	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.318	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	G			99453276	1	no_errors	ENST00000222382	ensembl	human	known	70_37	missense	SNP	0.000	C	C	99453276	G	C	99453276	3	2	118	1	0	0	0	0	1	0	0	0	4184	1377	48	4	763	4	CYP3A43	7	99453276	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	420688	99453276	59685387	81	18962										
MLL3	58508	genome.wustl.edu	37	chr7	151884356	151884356	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcatggcttaccagggaattCttcctttaagttggggaaat	10	7	2	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:151884356C>A	ENST00000262189.6	-	33	5217	c.4999G>T	c.(4999-5001)Gaa>Taa	p.E1667*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1667*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1667					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGGGAATTCTTCCTTTAAG	0.378																																																	0													84	90	88					7																	151884356		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4999G>T	7.37:g.151884356C>A	ENSP00000262189:p.Glu1667*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1667*	ENST00000262189.6	37	c.4999	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	47	13.560353	0.99749	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.47	5.47	0.80525	.	0.000000	0.44688	U	0.000438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6994	0.96047	0.0:1.0:0.0:0.0	.	.	.	.	X	1667	.	ENSP00000262189:E1667X	E	-	1	0	MLL3	151515289	1.000000	0.71417	0.943000	0.38184	0.968000	0.65278	7.776000	0.85560	2.718000	0.92993	0.579000	0.79373	GAA	MLL3	-	superfamily_HMG_superfamily,smart_HMG_superfamily		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151884356	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151884356	C	A	151884356	4	1	118	1	0	0	0	0	0	1	0	0	9645	922	32	3	9844	3	MLL3	7	151884356	Nonsense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	52431080	151884356	7254307	82	18963										
GPR124	25960	genome.wustl.edu	37	chr8	37697140	37697140	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	taccagatggtctgccaggcGgtaagcaggagaaggggctc	16	9	1	2	rs143283233		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:37697140G>A	ENST00000412232.2	+	16	2524	c.2511G>A	c.(2509-2511)gcG>gcA	p.A837A	GPR124_ENST00000315215.7_Splice_Site_p.A620A	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	837					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCTGCCAGGCGGTAAGCAGGA	0.582																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	68	65	66		2511	-2.4	1	8	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	GPR124	NM_032777.9		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		837/1339	37697140	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2511+1G>A	8.37:g.37697140G>A			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.A837	ENST00000412232.2	37	c.2511	CCDS6097.2	8																																																																																			GPR124	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.582	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G		Silent	37697140	1	no_errors	ENST00000412232	ensembl	human	known	70_37	silent	SNP	0.459	A	A	37697140	G	A	37697140	5	1	118	1	0	0	0	0	0	0	1	0	6657	1130	39	2	2552	2	GPR124	8	37697140	Splice_Site	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		37697140	108666882	83	18964										
ZFHX4	79776	genome.wustl.edu	37	chr8	77618006	77618006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agtggcaaggactttgcagaCgcaagtgccagtaaagacag	13	8	0	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:77618006C>T	ENST00000521891.2	+	2	2131	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	ZFHX4_ENST00000455469.2_Silent_p.D561D|ZFHX4_ENST00000050961.6_Silent_p.D561D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.D561D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTTGCAGACGCAAGTGCCA	0.507										HNSCC(33;0.089)																																							0													51	54	53					8																	77618006		2085	4229	6314	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1683C>T	8.37:g.77618006C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D561	ENST00000521891.2	37	c.1683	CCDS47878.2	8																																																																																			ZFHX4	-	NULL		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77618006	1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	0.403	T	T	77618006	C	T	77618006	2	4	118	1	0	0	0	0	0	0	0	1	17665	535	19	2		2	ZFHX4	8	77618006	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	39920866	77618006	68746016	84	18965										
RIPK2	8767	genome.wustl.edu	37	chr8	90792331	90792331	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atagaacttgaaccagttttGagaacatttgaagagataac	8	5	0	5			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:90792331G>A	ENST00000220751.4	+	7	1196	c.882G>A	c.(880-882)ttG>ttA	p.L294L	RIPK2_ENST00000540020.1_Silent_p.L157L	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AACCAGTTTTGAGAACATTTG	0.279																																																	0													37	37	37					8																	90792331		2186	4280	6466	SO:0001819	synonymous_variant	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.882G>A	8.37:g.90792331G>A			B7Z748|Q6UWF0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L294	ENST00000220751.4	37	c.882	CCDS6247.1	8																																																																																			RIPK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_cat_dom		0.279	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK2	HGNC	protein_coding	OTTHUMT00000375686.1	G			90792331	1	no_errors	ENST00000220751	ensembl	human	known	70_37	silent	SNP	0.998	A	A	90792331	G	A	90792331	2	1	118	1	0	0	0	0	0	0	0	1	13411	1281	45	1		1	RIPK2	8	90792331	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	13174325	90792331	55571691	85	18966										
EIF2C2	27161	genome.wustl.edu	37	chr8	141542680	141542680	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aggagaaacgattgtcgtccCagaggacgtgatagtgcgaa	14	7	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:141542680C>T	ENST00000220592.5	-	18	2418	c.2306G>A	c.(2305-2307)tGg>tAg	p.W769*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.W735*	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	769	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										ATTGTCGTCCCAGAGGACGTG	0.512																																																	0													106	78	88					8																	141542680		2203	4300	6503	SO:0001587	stop_gained	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2306G>A	8.37:g.141542680C>T	ENSP00000220592:p.Trp769*		Q8TCZ5|Q8WV58|Q96ID1	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.W769*	ENST00000220592.5	37	c.2306	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.689060	0.98434	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.011	20.1865	0.98220	0.0:1.0:0.0:0.0	.	.	.	.	X	769;735	.	ENSP00000220592:W769X	W	-	2	0	EIF2C2	141611862	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.708000	0.84633	2.775000	0.95449	0.655000	0.94253	TGG	EIF2C2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.512	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	C			141542680	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	141542680	C	T	141542680	4	4	118	1	0	0	0	0	0	1	0	0	5016	595	21	4	281	4	EIF2C2	8	141542680	Nonsense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	50750349	141542680	4821342	86	18967										
PTPRD	5789	genome.wustl.edu	37	chr9	8319890	8319890	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tttgacagtctggaagatatCtacaactccttcatatctca	5	10	4	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:8319890C>G	ENST00000381196.4	-	42	6154	c.5611G>C	c.(5611-5613)Gat>Cat	p.D1871H	PTPRD_ENST00000356435.5_Missense_Mutation_p.D1871H|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1464H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1461H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1849H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1858H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1465H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1464H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D1464H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1461H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1871H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1871	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGAAGATATCTACAACTCCT	0.428										TSP Lung(15;0.13)																																							0													187	179	181					9																	8319890		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5611G>C	9.37:g.8319890C>G	ENSP00000370593:p.Asp1871His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.D1871H	ENST00000381196.4	37	c.5611	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.108430	0.94292	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.74948	-0.3490	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1464;1455;1464;1465;1461;1461;1858;1871;1871	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1871;1871;1858;1849;1465;1464;1461;1461;1342;1871;1464;1464	ENSP00000370593:D1871H;ENSP00000348812:D1871H;ENSP00000353187:D1858H;ENSP00000351293:D1849H;ENSP00000347373:D1465H;ENSP00000380741:D1464H;ENSP00000380735:D1461H;ENSP00000440515:D1461H;ENSP00000438164:D1871H;ENSP00000417093:D1464H;ENSP00000380731:D1464H	.	D	-	1	0	PTPRD	8309890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GAT	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8319890	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8319890	C	G	8319890	3	3	118	1	0	0	0	0	1	0	0	0	12829	913	32	1	135	1	PTPRD	9	8319890	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		8319890	132893541	87	18968										
PRUNE2	158471	genome.wustl.edu	37	chr9	79320705	79320705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcagcacagttgcgttttcaGaatcgagttctgcattggat	11	8	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:79320705G>C	ENST00000376718.3	-	8	6608	c.6485C>G	c.(6484-6486)tCt>tGt	p.S2162C	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1803C	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2162					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCGTTTTCAGAATCGAGTTC	0.483																																																	0													127	115	119					9																	79320705		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6485C>G	9.37:g.79320705G>C	ENSP00000365908:p.Ser2162Cys		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S1803C	ENST00000376718.3	37	c.5408	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.910274|2.910274	0.52439|0.52439	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.58506	.|0.33;0.35	5.77|5.77	2.94|2.94	0.34122|0.34122	.|.	.|0.583037	.|0.16731	.|N	.|0.201858	T|T	0.65626|0.65626	0.2709|0.2709	M|M	0.64997|0.64997	1.995|1.995	0.41576|0.41576	D|D	0.988719|0.988719	.|D	.|0.71674	.|0.998	.|P	.|0.57371	.|0.819	T|T	0.66610|0.66610	-0.5880|-0.5880	5|10	.|0.87932	.|D	.|0	-0.374|-0.374	9.2024|9.2024	0.37268|0.37268	0.2231:0.0:0.7769:0.0|0.2231:0.0:0.7769:0.0	.|.	.|2162	.|Q8WUY3	.|PRUN2_HUMAN	L|C	1483|2162;1803;2161	.|ENSP00000365908:S2162C;ENSP00000397425:S1803C	.|ENSP00000365908:S2162C	F|S	-|-	3|2	2|0	PRUNE2|PRUNE2	78510525|78510525	0.850000|0.850000	0.29656|0.29656	0.010000|0.010000	0.14722|0.14722	0.004000|0.004000	0.04260|0.04260	1.075000|1.075000	0.30716|0.30716	0.782000|0.782000	0.33613|0.33613	0.655000|0.655000	0.94253|0.94253	TTC|TCT	PRUNE2	-	NULL		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79320705	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	0.590	C	C	79320705	G	C	79320705	3	2	118	1	0	0	0	0	1	0	0	0	12668	942	33	1	2829	1	PRUNE2	9	79320705	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	71000815	79320705	61892726	88	18969										
RMI1	80010	genome.wustl.edu	37	chr9	86617223	86617223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tagccattccttaaataataAaatattaaatagagaggtgg	7	4	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:86617223A>G	ENST00000325875.3	+	3	1654	c.1322A>G	c.(1321-1323)aAa>aGa	p.K441R		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	441					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ttaaataataaaatattaaat	0.284																																																	0													23	26	25					9																	86617223		2074	4243	6317	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1322A>G	9.37:g.86617223A>G	ENSP00000317039:p.Lys441Arg		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.K441R	ENST00000325875.3	37	c.1322	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	A	0.129	-1.115639	0.01799	.	.	ENSG00000178966	ENST00000325875	T	0.33216	1.42	5.42	4.29	0.51040	.	0.859993	0.10251	N	0.697193	T	0.22975	0.0555	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25847	-1.0120	9	.	.	.	-7.1262	6.3734	0.21493	0.7688:0.0:0.2312:0.0	.	441	Q9H9A7	RMI1_HUMAN	R	441	ENSP00000317039:K441R	.	K	+	2	0	RMI1	85807043	0.418000	0.25440	0.015000	0.15790	0.011000	0.07611	1.134000	0.31442	1.001000	0.39076	0.533000	0.62120	AAA	RMI1	-	NULL		0.284	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	A	NM_024945		86617223	1	no_errors	ENST00000325875	ensembl	human	known	70_37	missense	SNP	0.019	G	G	86617223	A	G	86617223	3	3	118	1	0	0	0	0	1	0	0	0	13425	14	1	5	1324	5	RMI1	9	86617223	Missense_Mutation	SNP	A	TCGA-EK-A3GM-01A-11D-A20U-09	7296518	86617223	54596208	89	18970										
FAM22F	54754	genome.wustl.edu	37	chr9	97081084	97081084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agggcctcagcctgtggtggGaacccacgacatagaccatg	13	12	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:97081084G>A	ENST00000253262.4	-	7	1954	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	NUTM2F_ENST00000341207.4_Missense_Mutation_p.S630F|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	645																	CCTGTGGTGGGAACCCACGAC	0.622																																																	0													10	9	9					9																	97081084		1713	3778	5491	SO:0001583	missense	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1934C>T	9.37:g.97081084G>A	ENSP00000253262:p.Ser645Phe		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.S645F	ENST00000253262.4	37	c.1934	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411746	0.25465	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.18502	2.21;2.25	1.52	0.577	0.17385	Nuclear Testis protein, C-terminal (1);	0.601209	0.15197	N	0.275227	T	0.32436	0.0829	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.08330	-1.0727	10	0.87932	D	0	.	3.9468	0.09352	0.2401:0.0:0.7599:0.0	.	645	A1L443	FA22F_HUMAN	F	645;630;479	ENSP00000253262:S645F;ENSP00000343865:S630F	ENSP00000253262:S645F	S	-	2	0	FAM22F	96120905	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.080000	0.11339	0.223000	0.20920	0.456000	0.33151	TCC	FAM22F	-	NULL		0.622	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	G	NM_017561		97081084	-1	no_errors	ENST00000253262	ensembl	human	known	70_37	missense	SNP	0.001	A	A	97081084	G	A	97081084	3	1	118	1	0	0	0	0	1	0	0	0	5560	1174	41	1	340	1	FAM22F	9	97081084	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	10463861	97081084	44132347	90	18971										
FBXO18	84893	genome.wustl.edu	37	chr10	5963484	5963484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gccaacgtgtttgatgaggcCgtacgggtgacggaagggga	18	7	0	3	rs141613808		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:5963484C>T	ENST00000362091.4	+	15	2389	c.2274C>T	c.(2272-2274)gcC>gcT	p.A758A	FBXO18_ENST00000397269.3_Silent_p.A245A|FBXO18_ENST00000379999.5_Silent_p.A809A	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	758					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A809A(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTGATGAGGCCGTACGGGTGA	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	114	93	100		2427,2274	-11.7	0.1	10	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FBXO18	NM_032807.3,NM_178150.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	809/1095,758/1044	5963484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2274C>T	10.37:g.5963484C>T			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.A809	ENST00000362091.4	37	c.2427	CCDS7072.1	10																																																																																			FBXO18	-	NULL		0.498	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	C	NM_032807		5963484	1	no_errors	ENST00000379999	ensembl	human	known	70_37	silent	SNP	0.011	T	T	5963484	C	T	5963484	2	4	118	1	0	0	0	0	0	0	0	1	5749	639	23	2		2	FBXO18	10	5963484	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		5963484	129571263	91	18972										
RBP3	5949	genome.wustl.edu	37	chr10	48388541	48388541	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gggttgtagcgcaggtcgatCaccagcgcagccgtgtccac	14	13	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:48388541C>T	ENST00000224600.4	-	1	2450	c.2337G>A	c.(2335-2337)gtG>gtA	p.V779V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	779	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGGTCGATCACCAGCGCAG	0.617																																																	0													32	29	30					10																	48388541		2201	4300	6501	SO:0001819	synonymous_variant	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2337G>A	10.37:g.48388541C>T			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.V779	ENST00000224600.4	37	c.2337	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	C	NM_002900		48388541	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	silent	SNP	0.000	T	T	48388541	C	T	48388541	2	4	118	1	0	0	0	0	0	0	0	1	13187	813	29	1		1	RBP3	10	48388541	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	42425057	48388541	87146206	92	18973										
CSTF2T	23283	genome.wustl.edu	37	chr10	53458331	53458331	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agcatctcctaacagtcctcGaggaggcagaccaccaggag	11	13	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:53458331G>A	ENST00000331173.4	-	1	1024	c.979C>T	c.(979-981)Cga>Tga	p.R327*	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	327	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R327*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AACAGTCCTCGAGGAGGCAGA	0.572																																																	1	Substitution - Nonsense(1)	large_intestine(1)											66	63	64					10																	53458331		2203	4300	6503	SO:0001587	stop_gained	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.979C>T	10.37:g.53458331G>A	ENSP00000332444:p.Arg327*		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R327*	ENST00000331173.4	37	c.979	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.851947	0.97023	.	.	ENSG00000177613	ENST00000331173	.	.	.	4.9	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2672	11.6651	0.51368	0.0:0.0:0.6779:0.3221	.	.	.	.	X	327	.	ENSP00000332444:R327X	R	-	1	2	CSTF2T	53128337	0.917000	0.31117	1.000000	0.80357	0.997000	0.91878	0.911000	0.28584	0.714000	0.32081	0.655000	0.94253	CGA	CSTF2T	-	NULL		0.572	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	G	NM_015235		53458331	-1	no_errors	ENST00000331173	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	53458331	G	A	53458331	4	1	118	1	0	0	0	0	0	1	0	0	3990	1066	37	1	875	1	CSTF2T	10	53458331	Nonsense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	5069790	53458331	82076416	93	18974										
CTNNA3	29119	genome.wustl.edu	37	chr10	68979606	68979606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gggctcctgcaatttcatctCtctgatttggagattttaag	9	8	3	2	rs372957321		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:68979606C>T	ENST00000433211.2	-	6	776	c.602G>A	c.(601-603)aGa>aAa	p.R201K	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R201K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R201K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATTTCATCTCTCTGATTTGG	0.388																																																	0								C	LYS/ARG,LYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	68	66		602,602	5.6	1	10		66	0,8600		0,0,4300	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	26,26	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	201/896,201/896	68979606	1,13005	2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.602G>A	10.37:g.68979606C>T	ENSP00000389714:p.Arg201Lys			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R201K	ENST00000433211.2	37	c.602	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829485	0.90955	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.49432	0.78;0.78;0.78	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000033	T	0.63331	0.2502	L	0.45352	1.415	0.41448	D	0.98796	D;D;P;D	0.63046	0.992;0.992;0.485;0.979	D;D;B;D	0.77004	0.989;0.989;0.261;0.973	T	0.64622	-0.6364	10	0.66056	D	0.02	-12.0805	18.3151	0.90218	0.0:1.0:0.0:0.0	.	201;201;201;201	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	201	ENSP00000389714:R201K;ENSP00000362849:R201K;ENSP00000441444:R201K	ENSP00000362849:R201K	R	-	2	0	CTNNA3	68649612	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.987000	0.70571	2.617000	0.88574	0.591000	0.81541	AGA	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	C	NM_013266		68979606	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68979606	C	T	68979606	3	4	118	1	0	0	0	0	1	0	0	0	4019	913	32	1	2137	1	CTNNA3	10	68979606	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	15521275	68979606	66555141	94	18975										
TET1	80312	genome.wustl.edu	37	chr10	70405425	70405425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aactactaccctttccaactCacatatcaactcagctacta	1	15	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:70405425C>T	ENST00000373644.4	+	4	3148	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	980					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTTTCCAACTCACATATCAAC	0.373																																																	0													112	105	107					10																	70405425		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2939C>T	10.37:g.70405425C>T	ENSP00000362748:p.Ser980Leu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S980L	ENST00000373644.4	37	c.2939	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	5.473	0.272284	0.10349	.	.	ENSG00000138336	ENST00000373644	T	0.07327	3.2	5.79	1.57	0.23409	.	4.691380	0.00520	N	0.000198	T	0.07593	0.0191	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35624	-0.9781	10	0.46703	T	0.11	.	1.6842	0.02838	0.159:0.4501:0.1561:0.2348	.	980	Q8NFU7	TET1_HUMAN	L	980	ENSP00000362748:S980L	ENSP00000362748:S980L	S	+	2	0	TET1	70075431	0.000000	0.05858	0.051000	0.19133	0.554000	0.35429	0.151000	0.16283	0.748000	0.32831	0.557000	0.71058	TCA	TET1	-	NULL		0.373	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70405425	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.001	T	T	70405425	C	T	70405425	3	4	118	1	0	0	0	0	1	0	0	0	15799	838	29	1	2949	1	TET1	10	70405425	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1425819	70405425	65129322	95	18976										
CDH23	64072	genome.wustl.edu	37	chr10	73558160	73558160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aatgacaatacgccccagttCaagccctttgggatcaccta	7	13	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:73558160C>G	ENST00000224721.6	+	49	6899	c.6894C>G	c.(6892-6894)ttC>ttG	p.F2298L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.F53L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2293	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGCCCCAGTTCAAGCCCTTTG	0.607																																																	0													80	83	82					10																	73558160		2114	4241	6355	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6894C>G	10.37:g.73558160C>G	ENSP00000224721:p.Phe2298Leu		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F2296L	ENST00000224721.6	37	c.6888		10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825038	0.90955	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.65732	-0.17	5.53	4.62	0.57501	Cadherin (2);Cadherin-like (1);	0.056631	0.64402	N	0.000001	T	0.79919	0.4529	M	0.83603	2.65	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.81914	0.995;0.938	T	0.83129	-0.0114	10	0.72032	D	0.01	.	14.2188	0.65812	0.0:0.9278:0.0:0.0722	.	2293;2293	E9PEX1;Q9H251	.;CAD23_HUMAN	L	2298;2293;2296;53	ENSP00000381768:F53L	ENSP00000224721:F2298L	F	+	3	2	CDH23	73228166	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.175000	0.42491	1.332000	0.45431	0.655000	0.94253	TTC	CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	C	NM_052836		73558160	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73558160	C	G	73558160	3	3	118	1	0	0	0	0	1	0	0	0	3113	825	29	1	7418	1	CDH23	10	73558160	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	3152735	73558160	61976587	96	18977										
OLFML1	283298	genome.wustl.edu	37	chr11	7531307	7531307	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gttcttccccaagagaccaaGaagtcactccatgatccatt	6	13	2	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:7531307G>A	ENST00000329293.3	+	3	1491	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R366K	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	366	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGAGACCAAGAAGTCACTCC	0.498																																																	0													94	85	88					11																	7531307		2201	4296	6497	SO:0001583	missense	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1097G>A	11.37:g.7531307G>A	ENSP00000332511:p.Arg366Lys		B4DP03|Q569G4	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.R366K	ENST00000329293.3	37	c.1097	CCDS7779.1	11	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263443	0.23051	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88509	-2.39;-2.39	5.51	3.54	0.40534	Olfactomedin-like (3);	0.234064	0.41823	D	0.000812	D	0.82641	0.5081	N	0.21097	0.63	0.80722	D	1	P;P	0.47545	0.897;0.897	P;P	0.48488	0.498;0.579	T	0.77872	-0.2426	10	0.20519	T	0.43	.	8.965	0.35872	0.0828:0.1494:0.7678:0.0	.	230;366	B4DN61;Q6UWY5	.;OLFL1_HUMAN	K	366	ENSP00000433455:R366K;ENSP00000332511:R366K	ENSP00000332511:R366K	R	+	2	0	OLFML1	7487883	0.080000	0.21391	1.000000	0.80357	0.982000	0.71751	1.902000	0.39848	1.338000	0.45544	-0.244000	0.11960	AGA	OLFML1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.498	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	G	NM_198474		7531307	1	no_errors	ENST00000329293	ensembl	human	known	70_37	missense	SNP	0.976	A	A	7531307	G	A	7531307	3	1	118	1	0	0	0	0	1	0	0	0	10880	942	33	1	1107	1	OLFML1	11	7531307	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		7531307	127475209	97	18978										
SWAP70	23075	genome.wustl.edu	37	chr11	9749720	9749720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aggataagaaaggagacattCtcttggatgaaaattgctgt	11	4	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:9749720C>T	ENST00000318950.6	+	5	866	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	SWAP70_ENST00000447399.2_Missense_Mutation_p.L197F	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	255	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGGAGACATTCTCTTGGATGA	0.423																																																	0													199	194	196					11																	9749720		2201	4294	6495	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.763C>T	11.37:g.9749720C>T	ENSP00000315630:p.Leu255Phe		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology	p.L255F	ENST00000318950.6	37	c.763	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	C	7.619	0.676494	0.14841	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.75367	-0.93;-0.93;-0.93	5.97	-8.62	0.00881	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.906581	0.09608	N	0.779314	T	0.48554	0.1506	L	0.33668	1.02	0.09310	N	0.999994	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.23419	0.046;0.002;0.002	T	0.47032	-0.9148	10	0.09843	T	0.71	0.6707	0.9611	0.01396	0.422:0.1242:0.2125:0.2412	.	197;255;197	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	F	197;255;106	ENSP00000399056:L197F;ENSP00000315630:L255F;ENSP00000435587:L106F	ENSP00000315630:L255F	L	+	1	0	SWAP70	9706296	0.000000	0.05858	0.160000	0.22671	0.989000	0.77384	-1.113000	0.03296	-1.117000	0.02965	0.561000	0.74099	CTC	SWAP70	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.423	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	C	NM_015055		9749720	1	no_errors	ENST00000318950	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9749720	C	T	9749720	3	4	118	1	0	0	0	0	1	0	0	0	15455	913	32	1	781	1	SWAP70	11	9749720	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2218413	9749720	125256796	98	18979										
ZDHHC13	54503	genome.wustl.edu	37	chr11	19197442	19197442	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tggtgaagccctgtgtggtaGattggacatcacagtacacc	12	9	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:19197442G>T	ENST00000446113.2	+	17	1925	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.D472Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	602					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CTGTGTGGTAGATTGGACATC	0.443																																																	0													124	119	121					11																	19197442		1873	4118	5991	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1804G>T	11.37:g.19197442G>T	ENSP00000400113:p.Asp602Tyr		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.D602Y	ENST00000446113.2	37	c.1804	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551752	0.45487	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.39592	1.07;1.71	5.7	4.8	0.61643	.	0.140236	0.64402	D	0.000007	T	0.64238	0.2580	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68965	-0.5270	10	0.87932	D	0	3.0266	13.9347	0.64017	0.0744:0.0:0.9256:0.0	.	602	Q8IUH4	ZDH13_HUMAN	Y	602;472	ENSP00000400113:D602Y;ENSP00000382288:D472Y	ENSP00000382288:D472Y	D	+	1	0	ZDHHC13	19154018	1.000000	0.71417	0.991000	0.47740	0.201000	0.24016	6.610000	0.74178	1.430000	0.47334	-0.362000	0.07510	GAT	ZDHHC13	-	NULL		0.443	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	G	NM_019028		19197442	1	no_errors	ENST00000446113	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19197442	G	T	19197442	3	4	118	1	0	0	0	0	1	0	0	0	17633	942	33	3	1870	3	ZDHHC13	11	19197442	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	9447722	19197442	115809074	99	18980										
ELF5	2001	genome.wustl.edu	37	chr11	34533107	34533107	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gtacctgtgggagtgaggcaGagatggcatggaagctgagg	19	5	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:34533107G>A	ENST00000312319.2	-	1	239	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Intron|ELF5_ENST00000257832.2_Intron|ELF5_ENST00000528709.1_5'UTR	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	4					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GAGTGAGGCAGAGATGGCATG	0.532																																					Melanoma(61;202 1660 4348 21594)												0													161	130	141					11																	34533107		2202	4298	6500	SO:0001819	synonymous_variant	2001			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.10C>T	11.37:g.34533107G>A			A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.L4	ENST00000312319.2	37	c.10	CCDS7892.1	11																																																																																			ELF5	-	NULL		0.532	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	HGNC	protein_coding	OTTHUMT00000389845.1	G	NM_198381		34533107	-1	no_errors	ENST00000312319	ensembl	human	known	70_37	silent	SNP	0.003	A	A	34533107	G	A	34533107	2	1	118	1	0	0	0	0	0	0	0	1	5069	933	33	1		1	ELF5	11	34533107	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	15335665	34533107	100473409	100	18981										
SSRP1	6749	genome.wustl.edu	37	chr11	57101942	57101942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	catgggacatctcaccgattCtcggaagccatcatacttgt	8	12	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:57101942C>T	ENST00000278412.2	-	3	501	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	79					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACCGATTCTCGGAAGCCA	0.458																																					Colon(89;1000 1340 6884 23013 41819)												0													245	233	237					11																	57101942		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.235G>A	11.37:g.57101942C>T	ENSP00000278412:p.Glu79Lys		Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.E79K	ENST00000278412.2	37	c.235	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.722735	0.96847	.	.	ENSG00000149136	ENST00000278412	T	0.48201	0.82	5.87	5.87	0.94306	.	0.045861	0.85682	D	0.000000	T	0.68632	0.3022	M	0.66439	2.03	0.58432	D	0.999999	D;P	0.71674	0.998;0.932	D;P	0.76575	0.988;0.811	T	0.64980	-0.6279	10	0.41790	T	0.15	-29.0771	19.7898	0.96452	0.0:1.0:0.0:0.0	.	283;79	Q59GH7;Q08945	.;SSRP1_HUMAN	K	79	ENSP00000278412:E79K	ENSP00000278412:E79K	E	-	1	0	SSRP1	56858518	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.224000	0.78042	2.780000	0.95670	0.561000	0.74099	GAA	SSRP1	-	NULL		0.458	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	C	NM_003146		57101942	-1	no_errors	ENST00000278412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57101942	C	T	57101942	3	4	118	1	0	0	0	0	1	0	0	0	15224	922	32	1	1954	1	SSRP1	11	57101942	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	22568835	57101942	77904574	101	18982										
TMEM223	79064	genome.wustl.edu	37	chr11	62558226	62558226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	catggcagggacttcaccccGgtgggccatgcaagatacct	12	13	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:62558226G>A	ENST00000307366.7	-	2	504	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000525631.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	160						integral component of membrane (GO:0016021)											ACTTCACCCCGGTGGGCCATG	0.537																																																	0													30	31	31					11																	62558226		1925	4140	6065	SO:0001583	missense	79064				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.478C>T	11.37:g.62558226G>A	ENSP00000303987:p.Arg160Trp		Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	NULL	p.R160W	ENST00000307366.7	37	c.478	CCDS44628.1	11	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515626	0.64634	.	.	ENSG00000168569	ENST00000307366	T	0.59906	0.23	5.13	4.19	0.49359	.	0.000000	0.64402	D	0.000001	T	0.73265	0.3565	M	0.71206	2.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.75952	-0.3136	10	0.87932	D	0	-11.3917	12.3184	0.54971	0.0:0.0:0.8233:0.1767	.	160	A0PJW6	TM223_HUMAN	W	160	ENSP00000303987:R160W	ENSP00000303987:R160W	R	-	1	2	TMEM223	62314802	1.000000	0.71417	0.992000	0.48379	0.571000	0.35966	3.859000	0.55987	1.099000	0.41499	0.455000	0.32223	CGG	TMEM223	-	NULL		0.537	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	HGNC	protein_coding	OTTHUMT00000395674.1	G			62558226	-1	no_errors	ENST00000307366	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62558226	G	A	62558226	3	1	118	1	0	0	0	0	1	0	0	0	16176	1115	39	2	134	2	TMEM223	11	62558226	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	5456284	62558226	72448290	102	18983										
SLC22A24	283238	genome.wustl.edu	37	chr11	62871743	62871743	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tctagctgattgttgataatCagccaccgagcagactccac	8	12	2	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:62871743C>T	ENST00000417740.1	-	5	1299	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGTTGATAATCAGCCACCGAG	0.388																																																	0													224	188	199					11																	62871743		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.858G>A	11.37:g.62871743C>T				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L286	ENST00000417740.1	37	c.858		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871743	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	silent	SNP	0.913	T	T	62871743	C	T	62871743	2	4	118	1	0	0	0	0	0	0	0	1	14483	813	29	1		1	SLC22A24	11	62871743	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	313517	62871743	72134773	103	18984										
KDM2A	22992	genome.wustl.edu	37	chr11	66995615	66995615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cacctaactaaggaatttcaGaaagagtccctcagcatggg	9	10	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:66995615G>C	ENST00000529006.2	+	11	1511	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	KDM2A_ENST00000398645.2_Missense_Mutation_p.Q355H|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	355					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAATTTCAGAAAGAGTCCC	0.458																																																	0													158	150	153					11																	66995615		1884	4118	6002	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1065G>C	11.37:g.66995615G>C	ENSP00000432786:p.Gln355His		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q355H	ENST00000529006.2	37	c.1065	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451030	0.63290	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.48522	0.81;2.09	6.02	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.52011	1.625	0.80722	D	1	P	0.46220	0.874	B	0.36134	0.218	T	0.19976	-1.0289	10	0.54805	T	0.06	-17.9909	8.684	0.34225	0.3013:0.0:0.6987:0.0	.	355	Q9Y2K7	KDM2A_HUMAN	H	355	ENSP00000381640:Q355H;ENSP00000432786:Q355H	ENSP00000381640:Q355H	Q	+	3	2	KDM2A	66752191	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.884000	0.56175	0.834000	0.34852	0.650000	0.86243	CAG	KDM2A	-	NULL		0.458	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66995615	1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66995615	G	C	66995615	3	2	118	1	0	0	0	0	1	0	0	0	8144	933	33	1	1103	1	KDM2A	11	66995615	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	4123872	66995615	68010901	104	18985										
KDM2A	22992	genome.wustl.edu	37	chr11	66999107	66999107	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gatcgagaaccccgacgcttGagcagcaggcgttctgtcct	12	13	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:66999107G>C	ENST00000529006.2	+	12	1601	c.1155G>C	c.(1153-1155)ttG>ttC	p.L385F	KDM2A_ENST00000398645.2_Missense_Mutation_p.L385F|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	385					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCCGACGCTTGAGCAGCAGGC	0.488																																																	0													75	70	72					11																	66999107		1946	4164	6110	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1155G>C	11.37:g.66999107G>C	ENSP00000432786:p.Leu385Phe		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L385F	ENST00000529006.2	37	c.1155	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508589	0.44660	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.32988	1.43;1.43	5.77	3.75	0.43078	.	0.936133	0.09010	N	0.861607	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	B	0.23128	0.08	B	0.17433	0.018	T	0.04178	-1.0971	10	0.33141	T	0.24	-4.7723	14.9682	0.71210	0.0:0.3751:0.6249:0.0	.	385	Q9Y2K7	KDM2A_HUMAN	F	385	ENSP00000381640:L385F;ENSP00000432786:L385F	ENSP00000381640:L385F	L	+	3	2	KDM2A	66755683	0.965000	0.33210	1.000000	0.80357	0.998000	0.95712	0.188000	0.17018	1.537000	0.49254	0.655000	0.94253	TTG	KDM2A	-	NULL		0.488	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66999107	1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	0.999	C	C	66999107	G	C	66999107	3	2	118	1	0	0	0	0	1	0	0	0	8144	1281	45	1	1197	1	KDM2A	11	66999107	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	3492	66999107	68007409	105	18986										
MYO7A	4647	genome.wustl.edu	37	chr11	76868334	76868334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cacattttcaggccctggatGaaaggaactaccacgtgttc	9	11	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:76868334G>A	ENST00000409709.3	+	8	1017	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	MYO7A_ENST00000409893.1_Missense_Mutation_p.E249K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E238K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E249K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	249	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCCTGGATGAAAGGAACTA	0.542																																																	0													59	65	63					11																	76868334		1952	4126	6078	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.745G>A	11.37:g.76868334G>A	ENSP00000386331:p.Glu249Lys		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E249K	ENST00000409709.3	37	c.745	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	19.20	3.781087	0.70222	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.92	4.92	0.64577	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96010	0.9001	10	0.54805	T	0.06	.	17.7223	0.88355	0.0:0.0:1.0:0.0	.	249;249;249	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	249;249;249;238;248;248;248;248	ENSP00000386331:E249K;ENSP00000386689:E249K;ENSP00000392185:E249K;ENSP00000386635:E238K	ENSP00000345075:E248K	E	+	1	0	MYO7A	76545982	1.000000	0.71417	0.919000	0.36401	0.050000	0.14768	9.639000	0.98448	2.265000	0.75225	0.558000	0.71614	GAA	MYO7A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	G	NM_000260		76868334	1	no_errors	ENST00000409709	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76868334	G	A	76868334	3	1	118	1	0	0	0	0	1	0	0	0	10105	1291	45	1	771	1	MYO7A	11	76868334	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	9869227	76868334	58138182	106	18987										
NARS2	79731	genome.wustl.edu	37	chr11	78177032	78177032	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gtgcttcaccaggtacttttCatgttcagtccgtaggtcag	10	10	4	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:78177032C>G	ENST00000281038.5	-	11	1429	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	NARS2_ENST00000528850.1_Missense_Mutation_p.E125Q	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	352					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AGGTACTTTTCATGTTCAGTC	0.408																																																	0													139	134	136					11																	78177032		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1054G>C	11.37:g.78177032C>G	ENSP00000281038:p.Glu352Gln		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.E352Q	ENST00000281038.5	37	c.1054	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516928	0.85495	.	.	ENSG00000137513	ENST00000281038;ENST00000528850;ENST00000529880	D;D;D	0.86366	-1.52;-1.52;-2.11	4.59	4.59	0.56863	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96205	0.9148	10	0.87932	D	0	-16.8839	16.6841	0.85300	0.0:1.0:0.0:0.0	.	352	Q96I59	SYNM_HUMAN	Q	352;125;208	ENSP00000281038:E352Q;ENSP00000432635:E125Q;ENSP00000432240:E208Q	ENSP00000281038:E352Q	E	-	1	0	NARS2	77854680	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.927000	0.75840	2.541000	0.85698	0.591000	0.81541	GAA	NARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb		0.408	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	C	NM_024678		78177032	-1	no_errors	ENST00000281038	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78177032	C	G	78177032	3	3	118	1	0	0	0	0	1	0	0	0	10194	835	29	1	395	1	NARS2	11	78177032	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1308698	78177032	56829484	107	18988										
EXPH5	23086	genome.wustl.edu	37	chr11	108380989	108380989	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aggagggctcagcctcctctGattgtcagagaattctgctt	11	10	4	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:108380989G>C	ENST00000265843.4	-	6	5355	c.5245C>G	c.(5245-5247)Cag>Gag	p.Q1749E	EXPH5_ENST00000443411.1_Missense_Mutation_p.Q1561E|EXPH5_ENST00000428840.1_Missense_Mutation_p.Q1673E|EXPH5_ENST00000525344.1_Missense_Mutation_p.Q1742E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1749					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGCCTCCTCTGATTGTCAGAG	0.493																																																	0													75	81	79					11																	108380989		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5245C>G	11.37:g.108380989G>C	ENSP00000265843:p.Gln1749Glu		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.Q1749E	ENST00000265843.4	37	c.5245	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056072	0.19907	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.03386	4.18;4.1;3.95;4.18;4.0	5.91	4.98	0.66077	.	0.272689	0.26995	N	0.021452	T	0.06142	0.0159	L	0.59436	1.845	0.09310	N	1	B	0.23990	0.095	B	0.26202	0.067	T	0.22138	-1.0225	10	0.30078	T	0.28	0.1088	13.5618	0.61793	0.0:0.3195:0.6805:0.0	.	1749	Q8NEV8	EXPH5_HUMAN	E	1749;1673;1561;1742;579;1673	ENSP00000265843:Q1749E;ENSP00000391966:Q1673E;ENSP00000411390:Q1561E;ENSP00000432546:Q1742E;ENSP00000432683:Q1673E	ENSP00000265843:Q1749E	Q	-	1	0	EXPH5	107886199	0.001000	0.12720	0.007000	0.13788	0.189000	0.23516	0.970000	0.29383	1.459000	0.47892	0.655000	0.94253	CAG	EXPH5	-	NULL		0.493	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108380989	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	0.003	C	C	108380989	G	C	108380989	3	2	118	1	0	0	0	0	1	0	0	0	5334	1299	45	1	728	1	EXPH5	11	108380989	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	30203957	108380989	26625527	108	18989										
ZC3H12C	85463	genome.wustl.edu	37	chr11	110030027	110030027	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aaggagaaaatcctggtgttCacgccatcccggcgagtcca	11	12	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:110030027C>T	ENST00000278590.3	+	4	1011	c.960C>T	c.(958-960)ttC>ttT	p.F320F	ZC3H12C_ENST00000528673.1_Silent_p.F321F|ZC3H12C_ENST00000453089.2_Silent_p.F289F	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	320							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCCTGGTGTTCACGCCATCCC	0.458																																																	0													49	50	50					11																	110030027		2109	4272	6381	SO:0001819	synonymous_variant	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.960C>T	11.37:g.110030027C>T			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.F320	ENST00000278590.3	37	c.960	CCDS44727.1	11																																																																																			ZC3H12C	-	pfam_RNase_Zc3h12		0.458	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	C	NM_033390		110030027	1	no_errors	ENST00000278590	ensembl	human	known	70_37	silent	SNP	1.000	T	T	110030027	C	T	110030027	2	4	118	1	0	0	0	0	0	0	0	1	17593	825	29	1		1	ZC3H12C	11	110030027	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1649038	110030027	24976489	109	18990										
BCO2	83875	genome.wustl.edu	37	chr11	112064657	112064657	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tacaagggtgattactacctCtgcactgagaccaactttat	7	10	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:112064657C>T	ENST00000357685.5	+	4	708	c.573C>T	c.(571-573)ctC>ctT	p.L191L	AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000531169.1_Silent_p.L157L|BCO2_ENST00000532593.1_Silent_p.L86L|BCO2_ENST00000526088.1_Silent_p.L157L|BCO2_ENST00000393032.2_Silent_p.L157L|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000438022.1_Silent_p.L157L			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	191					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTACTACCTCTGCACTGAGA	0.353																																					GBM(177;1916 2099 21049 29541 39946)												0													130	117	121					11																	112064657		2201	4297	6498	SO:0001819	synonymous_variant	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.573C>T	11.37:g.112064657C>T			B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	pfam_Carotenoid_Oase	p.L191	ENST00000357685.5	37	c.573	CCDS8358.2	11																																																																																			BCO2	-	pfam_Carotenoid_Oase		0.353	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3	C	NM_001037290		112064657	1	no_errors	ENST00000357685	ensembl	human	known	70_37	silent	SNP	0.982	T	T	112064657	C	T	112064657	2	4	118	1	0	0	0	0	0	0	0	1	1386	900	32	1		1	BCO2	11	112064657	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2034630	112064657	22941859	110	18991										
NCAM1	4684	genome.wustl.edu	37	chr11	113105875	113105875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgcggcctccgagttcaagaCgcagccagtccgtaagtaaa	11	13	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:113105875C>T	ENST00000533760.1	+	13	2029	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	NCAM1_ENST00000401611.2_Missense_Mutation_p.T604M|NCAM1_ENST00000316851.7_Missense_Mutation_p.T595M|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	605	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.T595M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGTTCAAGACGCAGCCAGTC	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											27	32	30					11																	113105875		2016	4149	6165	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1430C>T	11.37:g.113105875C>T	ENSP00000473281:p.Thr477Met		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.T595M	ENST00000533760.1	37	c.1784		11	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964939	0.92855	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.64991	0.45;-0.13	5.84	5.84	0.93424	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.81754	0.4889	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82963	-0.0196	9	0.87932	D	0	-21.0644	20.1336	0.98010	0.0:1.0:0.0:0.0	.	605;595;605;595	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	M	477;604;595;39	ENSP00000384055:T604M;ENSP00000318472:T595M	ENSP00000318472:T595M	T	+	2	0	NCAM1	112611085	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	7.629000	0.83207	2.767000	0.95098	0.591000	0.81541	ACG	NCAM1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	C	NM_000615		113105875	1	no_errors	ENST00000316851	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113105875	C	T	113105875	3	4	118	1	0	0	0	0	1	0	0	0	10226	536	19	2	1869	2	NCAM1	11	113105875	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1041218	113105875	21900641	111	18992										
ROBO3	64221	genome.wustl.edu	37	chr11	124739926	124739926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgtagcctccaacatggcggGagaacgggagagtgcggcag	17	10	0	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:124739926G>A	ENST00000397801.1	+	4	920	c.728G>A	c.(727-729)gGa>gAa	p.G243E	ROBO3_ENST00000538940.1_Missense_Mutation_p.G221E	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	243	Ig-like C2-type 2.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AACATGGCGGGAGAACGGGAG	0.527																																																	0													76	95	89					11																	124739926		2057	4204	6261	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.728G>A	11.37:g.124739926G>A	ENSP00000380903:p.Gly243Glu			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G243E	ENST00000397801.1	37	c.728	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515823	0.85495	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.73152	-0.72;-0.72	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32769	U	0.005667	D	0.88629	0.6488	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91990	0.5602	10	0.72032	D	0.01	.	17.6327	0.88113	0.0:0.0:1.0:0.0	.	243	Q96MS0	ROBO3_HUMAN	E	243;221	ENSP00000380903:G243E;ENSP00000441797:G221E	ENSP00000380903:G243E	G	+	2	0	ROBO3	124245136	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	9.692000	0.98682	2.340000	0.79590	0.462000	0.41574	GGA	ROBO3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.527	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	G	XM_370663		124739926	1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124739926	G	A	124739926	3	1	118	1	0	0	0	0	1	0	0	0	13545	1174	41	1	742	1	ROBO3	11	124739926	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	11634051	124739926	10266590	112	18993										
GLB1L3	112937	genome.wustl.edu	37	chr11	134151280	134151280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	acctcttctagctatgttccGtggaacctgcatgagccaga	9	12	2	2	rs199664947	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:134151280G>A	ENST00000431683.2	+	4	372	c.372G>A	c.(370-372)ccG>ccA	p.P124P	GLB1L3_ENST00000389887.5_Silent_p.P124P	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	124					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCTATGTTCCGTGGAACCTGC	0.493																																																	0													218	220	220					11																	134151280		2201	4297	6498	SO:0001819	synonymous_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.372G>A	11.37:g.134151280G>A			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.P124	ENST00000431683.2	37	c.372	CCDS44780.1	11																																																																																			GLB1L3	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF		0.493	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	G	NM_138416		134151280	1	no_errors	ENST00000431683	ensembl	human	known	70_37	silent	SNP	0.004	A	A	134151280	G	A	134151280	2	1	118	1	0	0	0	0	0	0	0	1	6449	1132	40	2		2	GLB1L3	11	134151280	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	9411354	134151280	855236	113	18994										
GLB1L3	112937	genome.wustl.edu	37	chr11	134153651	134153651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ctggctcctgcaagacccccGgttactgttgaggacaacca	10	14	0	2	rs550517910		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:134153651G>A	ENST00000431683.2	+	6	548	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	GLB1L3_ENST00000389887.5_Missense_Mutation_p.R183Q	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	183					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CAAGACCCCCGGTTACTGTTG	0.567													G|||	1	0.000199681	0	0	5008	,	,		17308	0.001		0	False		,,,				2504	0																0													48	48	48					11																	134153651		1914	4115	6029	SO:0001583	missense	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.548G>A	11.37:g.134153651G>A	ENSP00000396615:p.Arg183Gln		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R183Q	ENST00000431683.2	37	c.548	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530442	0.27387	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97888	-4.59;-4.59	4.49	-2.44	0.06502	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.89121	0.6625	N	0.04724	-0.175	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.82174	-0.0588	9	0.18276	T	0.48	.	1.2694	0.02018	0.4382:0.1595:0.2669:0.1353	.	183;183	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	Q	183	ENSP00000374537:R183Q;ENSP00000396615:R183Q	ENSP00000374537:R183Q	R	+	2	0	GLB1L3	133658861	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.081000	0.11321	-0.221000	0.09973	-0.441000	0.05720	CGG	GLB1L3	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF		0.567	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	G	NM_138416		134153651	1	no_errors	ENST00000431683	ensembl	human	known	70_37	missense	SNP	0.000	A	A	134153651	G	A	134153651	3	1	118	1	0	0	0	0	1	0	0	0	6449	1116	39	2	570	2	GLB1L3	11	134153651	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	2371	134153651	852865	114	18995										
FAM90A1	55138	genome.wustl.edu	37	chr12	8377332	8377332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atcttcttcatcgggcggggGagcccttggcccaactgggg	15	12	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:8377332G>A	ENST00000538603.1	-	4	655	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	33							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCGGGCGGGGGAGCCCTTGGC	0.647																																																	0													10	13	12					12																	8377332		2187	4262	6449	SO:0001583	missense	55138			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.97C>T	12.37:g.8377332G>A	ENSP00000445418:p.Pro33Ser		D3DUU9|Q9NVZ6	Missense_Mutation	SNP	NULL	p.P33S	ENST00000538603.1	37	c.97	CCDS31738.1	12	.	.	.	.	.	.	.	.	.	.	.	11.04	1.521967	0.27211	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15952	2.38;2.38	0.706	0.706	0.18133	.	.	.	.	.	T	0.17195	0.0413	L	0.58810	1.83	0.09310	N	1	P	0.37731	0.607	B	0.39465	0.3	T	0.16217	-1.0410	8	0.30854	T	0.27	-42.1669	.	.	.	.	33	Q86YD7	F90A1_HUMAN	S	33	ENSP00000307798:P33S;ENSP00000445418:P33S	ENSP00000307798:P33S	P	-	1	0	FAM90A1	8268599	0.020000	0.18652	0.011000	0.14972	0.055000	0.15305	0.297000	0.19101	0.668000	0.31126	0.196000	0.17591	CCC	FAM90A1	-	NULL		0.647	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	G	NM_018088		8377332	-1	no_errors	ENST00000307435	ensembl	human	known	70_37	missense	SNP	0.012	A	A	8377332	G	A	8377332	3	1	118	1	0	0	0	0	1	0	0	0	5668	1174	41	1	1313	1	FAM90A1	12	8377332	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		8377332	125474563	115	18996										
IAPP	3375	genome.wustl.edu	37	chr12	21531188	21531188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cagtcatcaggtggaaaagcGgaaatgcaacactgccacat	10	10	2	0	rs200996235		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:21531188G>A	ENST00000240652.3	+	3	234	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	IAPP_ENST00000539393.1_Missense_Mutation_p.R33Q|IAPP_ENST00000542023.1_Missense_Mutation_p.G64R|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	33					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						GTGGAAAAGCGGAAATGCAAC	0.428																																																	0													117	111	113					12																	21531188		2203	4300	6503	SO:0001583	missense	3375				CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"Endogenous ligands"	5329	protein-coding gene	gene with protein product	"amylin"	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.98G>A	12.37:g.21531188G>A	ENSP00000240652:p.Arg33Gln		Q0ZD87|Q14598	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep	p.R33Q	ENST00000240652.3	37	c.98	CCDS8688.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.665555|2.665555	0.47677|0.47677	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000542023;ENST00000535428|ENST00000539393;ENST00000240652;ENST00000537593	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	4.98|4.98	2.14|2.14	0.27477|0.27477	.|Calcitonin peptide-like (1);	.|0.121405	.|0.53938	.|D	.|0.000049	T|T	0.40423|0.40423	0.1116|0.1116	.|.	.|.	.|.	0.24613|0.24613	N|N	0.993715|0.993715	.|D	.|0.76494	.|0.999	.|D	.|0.65323	.|0.934	T|T	0.17930|0.17930	-1.0353|-1.0353	4|9	.|0.62326	.|D	.|0.03	0.2058|0.2058	6.2289|6.2289	0.20724|0.20724	0.1557:0.0:0.696:0.1483|0.1557:0.0:0.696:0.1483	.|.	.|33	.|P10997	.|IAPP_HUMAN	R|Q	64;29|33	.|ENSP00000437357:R33Q;ENSP00000240652:R33Q;ENSP00000445980:R33Q	.|ENSP00000240652:R33Q	G|R	+|+	1|2	0|0	IAPP|IAPP	21422455|21422455	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.201000|0.201000	0.24016|0.24016	5.601000|5.601000	0.67606|0.67606	0.149000|0.149000	0.19098|0.19098	-0.157000|-0.157000	0.13467|0.13467	GGA|CGG	IAPP	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep		0.428	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IAPP	HGNC	protein_coding	OTTHUMT00000402356.1	G	NM_000415		21531188	1	no_errors	ENST00000240652	ensembl	human	known	70_37	missense	SNP	0.966	A	A	21531188	G	A	21531188	3	1	118	1	0	0	0	0	1	0	0	0	7492	1116	39	2	104	2	IAPP	12	21531188	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	13153856	21531188	112320707	116	18997										
SOX5	6660	genome.wustl.edu	37	chr12	24048783	24048783	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	acaagtctcttgcgtcagcaGagaaactggctgaaattcct	9	10	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:24048783G>C	ENST00000451604.2	-	2	315	c.214C>G	c.(214-216)Ctg>Gtg	p.L72V	SOX5_ENST00000541536.1_Missense_Mutation_p.L59V|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.L59V|SOX5_ENST00000545921.1_Missense_Mutation_p.L62V|SOX5_ENST00000381381.2_Missense_Mutation_p.L59V|SOX5_ENST00000541847.1_Missense_Mutation_p.L62V|SOX5_ENST00000309359.1_Missense_Mutation_p.L59V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	72					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGCGTCAGCAGAGAAACTGGC	0.488																																																	0													229	222	224					12																	24048783		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.214C>G	12.37:g.24048783G>C	ENSP00000398273:p.Leu72Val		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L72V	ENST00000451604.2	37	c.214	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744853	0.30865	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.96830	-4.13;-4.13;-4.14;-4.13;-4.14;-4.13	5.79	4.9	0.64082	.	0.305967	0.28671	N	0.014526	D	0.92629	0.7658	L	0.34521	1.04	0.37357	D	0.91104	B;B	0.16802	0.012;0.019	B;B	0.20184	0.006;0.028	D	0.90572	0.4523	10	0.42905	T	0.14	.	10.9818	0.47499	0.1421:0.0:0.8579:0.0	.	59;72	P35711-4;P35711	.;SOX5_HUMAN	V	59;59;59;72;59;62;62;59	ENSP00000437487:L59V;ENSP00000308927:L59V;ENSP00000370788:L59V;ENSP00000398273:L72V;ENSP00000441973:L59V;ENSP00000443520:L62V	ENSP00000308927:L59V	L	-	1	2	SOX5	23940050	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.557000	0.53741	1.462000	0.47948	-0.145000	0.13849	CTG	SOX5	-	NULL		0.488	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	G	NM_006940		24048783	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24048783	G	C	24048783	3	2	118	1	0	0	0	0	1	0	0	0	14984	933	33	1	2143	1	SOX5	12	24048783	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	2517595	24048783	109803112	117	18998										
DENND5B	160518	genome.wustl.edu	37	chr12	31579359	31579359	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgtgcctcttgcatatatttCtaaaaaatcaaggagtattt	6	7	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:31579359C>T	ENST00000389082.5	-	9	2371		c.e9-1		DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B						positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCATATATTTCTAAAAAATCA	0.353																																																	0													50	47	48					12																	31579359		1813	4080	5893	SO:0001630	splice_region_variant	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2107-1G>A	12.37:g.31579359C>T			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Splice_Site	SNP	-	e10-1	ENST00000389082.5	37	c.2212-1	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786349	0.70337	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8776	0.86056	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND5B	31470626	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.093000	0.76937	2.181000	0.69327	0.655000	0.94253	.	DENND5B	-	-		0.353	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973	Intron	31579359	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	31579359	C	T	31579359	5	4	118	1	0	0	0	0	0	0	1	0	4447	927	32	1	1770	1	DENND5B	12	31579359	Splice_Site	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	7530576	31579359	102272536	118	18999										
ESPL1	9700	genome.wustl.edu	37	chr12	53670904	53670904	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccgggaagccctgcagcttCtggactctgtgaggcctgag	14	12	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:53670904C>G	ENST00000257934.4	+	9	2069	c.1978C>G	c.(1978-1980)Ctg>Gtg	p.L660V	ESPL1_ENST00000552462.1_Missense_Mutation_p.L660V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	660					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGCAGCTTCTGGACTCTGT	0.547																																					Colon(53;1069 1201 2587 5382)												0													70	67	68					12																	53670904		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1978C>G	12.37:g.53670904C>G	ENSP00000257934:p.Leu660Val			Missense_Mutation	SNP	pfam_Peptidase_C50	p.L660V	ENST00000257934.4	37	c.1978	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570091	0.65765	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.15603	2.41;2.41	5.19	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.36635	0.0974	M	0.76002	2.32	0.47862	D	0.999534	D	0.76494	0.999	D	0.80764	0.994	T	0.09530	-1.0670	10	0.87932	D	0	.	7.1632	0.25675	0.0:0.7624:0.0:0.2376	.	660	Q14674	ESPL1_HUMAN	V	660;335;660	ENSP00000257934:L660V;ENSP00000449831:L660V	ENSP00000257934:L660V	L	+	1	2	ESPL1	51957171	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	0.894000	0.28350	2.710000	0.92621	0.655000	0.94253	CTG	ESPL1	-	NULL		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53670904	1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53670904	C	G	53670904	3	3	118	1	0	0	0	0	1	0	0	0	5265	912	32	1	2008	1	ESPL1	12	53670904	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	22091545	53670904	80180991	119	19000										
ERBB3	2065	genome.wustl.edu	37	chr12	56481622	56481622	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cagtgtaatggtcactgcttTgggcccaaccccaaccagtg	10	13	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:56481622T>A	ENST00000267101.3	+	6	1097	c.657T>A	c.(655-657)ttT>ttA	p.F219L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.F160L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	219					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCACTGCTTTGGGCCCAACC	0.552																																																	0													129	116	120					12																	56481622		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.657T>A	12.37:g.56481622T>A	ENSP00000267101:p.Phe219Leu		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F219L	ENST00000267101.3	37	c.657	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258192	0.80246	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.64438	-0.1;-0.1	5.69	1.51	0.23008	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000002	T	0.67088	0.2856	M	0.74467	2.265	0.80722	D	1	P	0.47910	0.902	P	0.52424	0.698	T	0.62282	-0.6887	10	0.36615	T	0.2	.	8.4596	0.32921	0.0:0.2799:0.0:0.7201	.	219	P21860	ERBB3_HUMAN	L	219;219;160	ENSP00000267101:F219L;ENSP00000408340:F160L	ENSP00000267101:F219L	F	+	3	2	ERBB3	54767889	0.914000	0.31030	0.999000	0.59377	0.998000	0.95712	-0.059000	0.11731	0.014000	0.14944	0.533000	0.62120	TTT	ERBB3	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	T			56481622	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.997	A	A	56481622	T	A	56481622	3	1	118	1	0	0	0	0	1	0	0	0	5220	1809	63	5	810	5	ERBB3	12	56481622	Missense_Mutation	SNP	T	TCGA-EK-A3GM-01A-11D-A20U-09	2810718	56481622	77370273	120	19001										
APOF	319	genome.wustl.edu	37	chr12	56755762	56755762	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggtagaggggccatgtggctGaaaccaggcagtgactttgg	17	7	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:56755762G>A	ENST00000398189.3	-	2	305	c.228C>T	c.(226-228)ttC>ttT	p.F76F	STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|APOF_ENST00000541105.1_Silent_p.F58F|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	76					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CCATGTGGCTGAAACCAGGCA	0.532																																																	0													75	78	77					12																	56755762		2033	4186	6219	SO:0001819	synonymous_variant	319			L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.228C>T	12.37:g.56755762G>A			Q8TC13	Silent	SNP	NULL	p.F76	ENST00000398189.3	37	c.228	CCDS44923.1	12																																																																																			APOF	-	NULL		0.532	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	G			56755762	-1	no_errors	ENST00000398189	ensembl	human	known	70_37	silent	SNP	0.706	A	A	56755762	G	A	56755762	2	1	118	1	0	0	0	0	0	0	0	1	803	1281	45	1		1	APOF	12	56755762	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	274140	56755762	77096133	121	19002										
PLXNC1	10154	genome.wustl.edu	37	chr12	94543449	94543449	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggcgcgggcagcctgcacttCgtggacgcctttctctggaa	14	13	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:94543449C>T	ENST00000258526.4	+	1	951	c.702C>T	c.(700-702)ttC>ttT	p.F234F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	234	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F234L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTGCACTTCGTGGACGCCT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											31	36	35					12																	94543449		2168	4277	6445	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.702C>T	12.37:g.94543449C>T			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F234	ENST00000258526.4	37	c.702	CCDS9049.1	12																																																																																			PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.682	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94543449	1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	0.997	T	T	94543449	C	T	94543449	2	4	118	1	0	0	0	0	0	0	0	1	12150	883	31	1		1	PLXNC1	12	94543449	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	37787687	94543449	39308446	122	19003										
NHLRC3	387921	genome.wustl.edu	37	chr13	39613751	39613751	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttcacagaggatggatatttCctacgagcctggaattatac	9	8	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:39613751C>T	ENST00000379600.3	+	3	610	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PROSER1_ENST00000350125.3_5'Flank|NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Silent_p.F96F|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	96						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATGGATATTTCCTACGAGCCT	0.398																																																	0													77	76	76					13																	39613751		2203	4300	6503	SO:0001819	synonymous_variant	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.288C>T	13.37:g.39613751C>T			B2RTZ2|B4DTL0|Q69YI9	Silent	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.F96	ENST00000379600.3	37	c.288	CCDS31961.1	13																																																																																			NHLRC3	-	NULL		0.398	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	C	NM_001012754		39613751	1	no_errors	ENST00000379600	ensembl	human	known	70_37	silent	SNP	0.991	T	T	39613751	C	T	39613751	2	4	118	1	0	0	0	0	0	0	0	1	10431	854	30	1		1	NHLRC3	13	39613751	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		39613751	75556127	123	19004										
ATP7B	540	genome.wustl.edu	37	chr13	52515301	52515301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atcgctagaaatggttaaacCgttgcgcctcagccactcac	8	13	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:52515301C>T	ENST00000242839.4	-	16	3628	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1080S|ATP7B_ENST00000400370.3_Missense_Mutation_p.G728S|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1093S|ATP7B_ENST00000344297.5_Missense_Mutation_p.G951S|ATP7B_ENST00000417240.2_Missense_Mutation_p.G369S|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1047S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1158					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGGTTAAACCGTTGCGCCTC	0.483									Wilson disease																																								0													149	141	144					13																	52515301		2034	4177	6211	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3472G>A	13.37:g.52515301C>T	ENSP00000242839:p.Gly1158Ser		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.G1158S	ENST00000242839.4	37	c.3472	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585743	0.86748	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.15;-4.98;-4.98;-4.98	5.0	5.0	0.66597	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	N	0.21545	0.675	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.884;1.0;0.985;1.0;0.967;1.0;0.978	D;P;D;D;D;P;D;D	0.91635	0.999;0.883;0.975;0.929;0.982;0.866;0.982;0.924	D	0.98693	1.0697	10	0.51188	T	0.08	-28.4288	18.8402	0.92180	0.0:1.0:0.0:0.0	.	1080;1110;1093;369;728;1047;951;1158	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	S	1158;1047;951;369;1080;728;1093	ENSP00000242839:G1158S;ENSP00000383217:G1047S;ENSP00000342559:G951S;ENSP00000390360:G369S;ENSP00000416738:G1080S;ENSP00000383221:G728S;ENSP00000393343:G1093S	ENSP00000242839:G1158S	G	-	1	0	ATP7B	51413302	0.997000	0.39634	0.836000	0.33094	0.874000	0.50279	3.674000	0.54598	2.757000	0.94681	0.655000	0.94253	GGT	ATP7B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal		0.483	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52515301	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52515301	C	T	52515301	3	4	118	1	0	0	0	0	1	0	0	0	1192	652	23	2	949	2	ATP7B	13	52515301	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	12901550	52515301	62654577	124	19005										
THSD1	55901	genome.wustl.edu	37	chr13	52971859	52971859	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcttgaatttcttcttgcctCaggaagactgttggtgaaga	10	7	4	4			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:52971859C>T	ENST00000258613.4	-	3	707	c.529G>A	c.(529-531)Gag>Aag	p.E177K	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.E177K	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	177					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.E177K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTCTTGCCTCAGGAAGACTG	0.502																																																	1	Substitution - Missense(1)	lung(1)											78	66	70					13																	52971859		2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.529G>A	13.37:g.52971859C>T	ENSP00000258613:p.Glu177Lys		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E177K	ENST00000258613.4	37	c.529	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896773	0.33535	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18960	2.18;2.36	5.54	3.78	0.43462	.	0.472083	0.23842	N	0.044024	T	0.45034	0.1322	M	0.72118	2.19	0.23869	N	0.996616	D;P	0.71674	0.998;0.636	D;B	0.80764	0.994;0.178	T	0.39165	-0.9627	10	0.45353	T	0.12	-11.5864	15.1207	0.72441	0.0:0.7108:0.2892:0.0	.	177;177	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	K	177	ENSP00000340650:E177K;ENSP00000258613:E177K	ENSP00000258613:E177K	E	-	1	0	THSD1	51869860	0.503000	0.26115	0.029000	0.17559	0.152000	0.21847	1.252000	0.32874	0.668000	0.31126	-0.311000	0.09066	GAG	THSD1	-	NULL		0.502	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	C			52971859	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	missense	SNP	0.134	T	T	52971859	C	T	52971859	3	4	118	1	0	0	0	0	1	0	0	0	15907	835	29	1	2041	1	THSD1	13	52971859	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	456558	52971859	62198019	125	19006										
SYNE2	23224	genome.wustl.edu	37	chr14	64686090	64686090	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agatggcaaagcctccctctGatatccaggaaatagaactg	9	10	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:64686090G>A	ENST00000344113.4	+	109	19965	c.19753G>A	c.(19753-19755)Gat>Aat	p.D6585N	SYNE2_ENST00000554805.1_Missense_Mutation_p.D368N|SYNE2_ENST00000555022.1_Missense_Mutation_p.D463N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D6608N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D2970N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D3242N|SYNE2_ENST00000441438.2_Missense_Mutation_p.D116N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D6501N|SYNE2_ENST00000458046.2_Missense_Mutation_p.D242N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D2970N|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6585					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCCTCCCTCTGATATCCAGGA	0.453																																																	0													79	75	77					14																	64686090		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19753G>A	14.37:g.64686090G>A	ENSP00000341781:p.Asp6585Asn		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D6608N	ENST00000344113.4	37	c.19822	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287047	0.23478	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.53	-2.17	0.07059	.	0.983094	0.08291	N	0.968509	T	0.64103	0.2568	L	0.56396	1.775	0.09310	N	1	B;P;B;B;B;B;P;D	0.54601	0.07;0.593;0.033;0.033;0.087;0.001;0.763;0.967	B;B;B;B;B;B;P;P	0.54026	0.075;0.381;0.045;0.045;0.119;0.003;0.574;0.74	T	0.62548	-0.6831	10	0.87932	D	0	.	12.3836	0.55322	0.7335:0.0:0.2665:0.0	.	242;2970;116;242;973;6501;6585;6608	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	N	6608;2970;6585;6501;6507;3242;2970;463;368;242;116	ENSP00000350719:D6608N;ENSP00000349969:D2970N;ENSP00000341781:D6585N;ENSP00000452570:D6501N;ENSP00000450831:D3242N;ENSP00000378249:D2970N;ENSP00000451009:D463N;ENSP00000450605:D368N;ENSP00000391937:D242N;ENSP00000396794:D116N	ENSP00000261678:D6507N	D	+	1	0	SYNE2	63755843	0.000000	0.05858	0.000000	0.03702	0.494000	0.33585	0.229000	0.17833	-0.496000	0.06650	0.655000	0.94253	GAT	SYNE2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64686090	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.000	A	A	64686090	G	A	64686090	3	1	118	1	0	0	0	0	1	0	0	0	15476	1290	45	1	20256	1	SYNE2	14	64686090	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		64686090	42663450	126	19007										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102493819	102493819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agatagcatttataatggatGaatctaatgtgttagattct	8	3	2	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:102493819G>A	ENST00000360184.4	+	46	9150	c.8986G>A	c.(8986-8988)Gaa>Aaa	p.E2996K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2996	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TATAATGGATGAATCTAATGT	0.423																																																	0													114	111	112					14																	102493819		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8986G>A	14.37:g.102493819G>A	ENSP00000348965:p.Glu2996Lys		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E2996K	ENST00000360184.4	37	c.8986	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.617445	0.96649	.	.	ENSG00000197102	ENST00000360184	T	0.72942	-0.7	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.055265	0.64402	D	0.000001	D	0.89420	0.6710	H	0.96398	3.815	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.92205	0.5771	10	0.87932	D	0	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	2996	Q14204	DYHC1_HUMAN	K	2996	ENSP00000348965:E2996K	ENSP00000348965:E2996K	E	+	1	0	DYNC1H1	101563572	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	9.514000	0.98013	2.685000	0.91497	0.603000	0.83216	GAA	DYNC1H1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102493819	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102493819	G	A	102493819	3	1	118	1	0	0	0	0	1	0	0	0	4851	1291	45	1	9168	1	DYNC1H1	14	102493819	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	37807729	102493819	4855721	127	19008										
TECPR2	9895	genome.wustl.edu	37	chr14	102901414	102901414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agacattgacgtccagcgatGaggaggacatctatgcccac	11	11	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:102901414G>A	ENST00000359520.7	+	9	2486	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E754K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	754					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTCCAGCGATGAGGAGGACAT	0.607																																																	0													66	63	64					14																	102901414		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2260G>A	14.37:g.102901414G>A	ENSP00000352510:p.Glu754Lys		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.E754K	ENST00000359520.7	37	c.2260	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626550	0.87560	.	.	ENSG00000196663	ENST00000359520	T	0.20332	2.08	5.31	5.31	0.75309	.	0.201289	0.44688	D	0.000423	T	0.34629	0.0904	L	0.29908	0.895	0.46798	D	0.999206	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.955	T	0.02766	-1.1113	9	.	.	.	.	19.0438	0.93012	0.0:0.0:1.0:0.0	.	754;754	A5PKY3;O15040	.;TCPR2_HUMAN	K	754	ENSP00000352510:E754K	.	E	+	1	0	TECPR2	101971167	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	6.502000	0.73695	2.504000	0.84457	0.555000	0.69702	GAG	TECPR2	-	NULL		0.607	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	G	NM_014844		102901414	1	no_errors	ENST00000359520	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102901414	G	A	102901414	3	1	118	1	0	0	0	0	1	0	0	0	15774	1291	45	1	2290	1	TECPR2	14	102901414	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	407595	102901414	4448126	128	19009										
RYR3	6263	genome.wustl.edu	37	chr15	34080589	34080589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cagaactcctcatcctggacGagttcgcggtcctctgcaga	10	14	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:34080589G>A	ENST00000389232.4	+	67	9830	c.9760G>A	c.(9760-9762)Gag>Aag	p.E3254K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3254K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3254					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCCTGGACGAGTTCGCGGT	0.562																																																	0													77	84	82					15																	34080589		2034	4197	6231	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9760G>A	15.37:g.34080589G>A	ENSP00000373884:p.Glu3254Lys		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E3254K	ENST00000389232.4	37	c.9760	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442048	0.83993	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.67698	-0.28;-0.28	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.66939	2.045	0.80722	D	1	D;P	0.89917	1.0;0.614	D;B	0.66497	0.944;0.115	T	0.80968	-0.1145	10	0.52906	T	0.07	.	17.529	0.87808	0.0:0.0:1.0:0.0	.	3254;3254	Q15413-2;Q15413	.;RYR3_HUMAN	K	3254	ENSP00000373884:E3254K;ENSP00000399610:E3254K	ENSP00000354735:E3254K	E	+	1	0	RYR3	31867881	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	9.601000	0.98297	2.447000	0.82792	0.655000	0.94253	GAG	RYR3	-	superfamily_ARM-type_fold		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34080589	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34080589	G	A	34080589	3	1	118	1	0	0	0	0	1	0	0	0	13800	1059	37	1	10026	1	RYR3	15	34080589	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		34080589	68450803	129	19010										
ACTC1	70	genome.wustl.edu	37	chr15	35086946	35086946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgcgtcatcgcccgcaaagcCggccttcaccagcccagagc	10	19	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:35086946C>T	ENST00000290378.4	-	2	719	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	22					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCCGCAAAGCCGGCCTTCACC	0.687																																																	0													53	57	55					15																	35086946		2200	4297	6497	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.64G>A	15.37:g.35086946C>T	ENSP00000290378:p.Gly22Ser		P04270	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G22S	ENST00000290378.4	37	c.64	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643819	0.87859	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.99727	-6.55	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000054	D	0.99887	0.9946	H	0.99919	4.95	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.95744	0.8786	10	0.87932	D	0	.	16.9537	0.86252	0.0:1.0:0.0:0.0	.	22	P68032	ACTC_HUMAN	S	22	ENSP00000290378:G22S	ENSP00000290378:G22S	G	-	1	0	ACTC1	32874238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.064000	0.61679	0.561000	0.74099	GGC	ACTC1	-	pfam_Actin-like,smart_Actin-like		0.687	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	C	NM_005159		35086946	-1	no_errors	ENST00000290378	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35086946	C	T	35086946	3	4	118	1	0	0	0	0	1	0	0	0	195	652	23	2	1093	2	ACTC1	15	35086946	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1006357	35086946	67444446	130	19011										
HAUS2	55142	genome.wustl.edu	37	chr15	42853584	42853584	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gccaggaaaacttacctattGaagctgtttatcacaggtta	8	8	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:42853584G>A	ENST00000260372.3	+	4	436	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	HAUS2_ENST00000568876.1_Missense_Mutation_p.E94K|HAUS2_ENST00000568846.2_3'UTR	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	125					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						CTTACCTATTGAAGCTGTTTA	0.368																																																	0													107	98	101					15																	42853584		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.373G>A	15.37:g.42853584G>A	ENSP00000260372:p.Glu125Lys		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E125K	ENST00000260372.3	37	c.373	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247206	0.59103	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.55234	0.53	5.99	5.99	0.97316	.	0.173050	0.51477	D	0.000090	T	0.65760	0.2722	L	0.60455	1.87	0.39684	D	0.970945	P;D	0.63880	0.607;0.993	B;P	0.60886	0.187;0.88	T	0.66416	-0.5929	10	0.51188	T	0.08	-6.5492	14.616	0.68549	0.0709:0.0:0.9291:0.0	.	94;125	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	K	125;94	ENSP00000260372:E125K	ENSP00000260372:E125K	E	+	1	0	HAUS2	40640876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.495000	0.60353	2.840000	0.97914	0.655000	0.94253	GAA	HAUS2	-	NULL		0.368	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42853584	1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42853584	G	A	42853584	3	1	118	1	0	0	0	0	1	0	0	0	6986	1291	45	1	387	1	HAUS2	15	42853584	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	7766638	42853584	59677808	131	19012										
MNS1	55329	genome.wustl.edu	37	chr15	56726478	56726478	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atttagctagcatagtttttCtaaagttctcctcttcctct	4	10	4	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:56726478C>G	ENST00000260453.3	-	8	1291	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'Flank|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	376					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATAGTTTTTCTAAAGTTCTC	0.383																																																	0													187	176	180					15																	56726478		2192	4292	6484	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1127G>C	15.37:g.56726478C>G	ENSP00000260453:p.Arg376Thr		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.R376T	ENST00000260453.3	37	c.1127	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752088	0.69533	.	.	ENSG00000138587	ENST00000260453	T	0.11385	2.78	5.59	4.66	0.58398	.	0.050574	0.85682	D	0.000000	T	0.26702	0.0653	M	0.80183	2.485	0.80722	D	1	D	0.63880	0.993	P	0.59825	0.864	T	0.01844	-1.1262	10	0.42905	T	0.14	-10.9126	7.8609	0.29509	0.1601:0.7578:0.0:0.0821	.	376	Q8NEH6	MNS1_HUMAN	T	376	ENSP00000260453:R376T	ENSP00000260453:R376T	R	-	2	0	MNS1	54513770	0.973000	0.33851	0.109000	0.21407	0.914000	0.54420	2.873000	0.48475	1.342000	0.45619	0.563000	0.77884	AGA	MNS1	-	NULL		0.383	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	C	NM_018365		56726478	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	missense	SNP	0.873	G	G	56726478	C	G	56726478	3	3	118	1	0	0	0	0	1	0	0	0	9700	913	32	1	372	1	MNS1	15	56726478	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	13872894	56726478	45804914	132	19013										
RPL4	6124	genome.wustl.edu	37	chr15	66793822	66793822	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	attttgcctttgccagctctCattcgctgagaggcatagac	9	11	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:66793822C>G	ENST00000307961.6	-	6	659	c.567G>C	c.(565-567)atG>atC	p.M189I	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.M95I|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	189					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCCAGCTCTCATTCGCTGAG	0.423																																																	0													66	67	66					15																	66793822		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.567G>C	15.37:g.66793822C>G	ENSP00000311430:p.Met189Ile		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.M189I	ENST00000307961.6	37	c.567	CCDS10218.1	15	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745308	0.30955	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.39	4.48	0.54585	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.01146	-0.985	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.002;0.009	T	0.27054	-1.0085	9	0.02654	T	1	-19.3891	13.8434	0.63453	0.0:0.9269:0.0:0.0731	.	189;189	B4DFI6;P36578	.;RL4_HUMAN	I	189	.	ENSP00000311430:M189I	M	-	3	0	RPL4	64580876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.828000	0.69307	1.271000	0.44313	0.655000	0.94253	ATG	RPL4	-	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom		0.423	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	C	NM_000968		66793822	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66793822	C	G	66793822	3	3	118	1	0	0	0	0	1	0	0	0	13625	826	29	1	736	1	RPL4	15	66793822	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	10067344	66793822	35737570	133	19014										
KIF23	9493	genome.wustl.edu	37	chr15	69714019	69714019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttaaacaagtatttggcactCacaccacccagaaggaactc	6	12	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:69714019C>T	ENST00000260363.4	+	4	361	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	KIF23_ENST00000352331.4_Missense_Mutation_p.H82Y|KIF23_ENST00000395392.2_Missense_Mutation_p.H82Y|KIF23_ENST00000558585.1_5'Flank|KIF23_ENST00000559279.1_Missense_Mutation_p.H82Y|KIF23_ENST00000537891.1_5'Flank	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	82	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATTTGGCACTCACACCACCCA	0.368																																																	0													140	138	139					15																	69714019		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.244C>T	15.37:g.69714019C>T	ENSP00000260363:p.His82Tyr		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H82Y	ENST00000260363.4	37	c.244	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412251	0.42817	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.72394	-0.65;-0.65;-0.65	5.88	4.01	0.46588	Kinesin, motor domain (4);	0.845278	0.10981	N	0.612699	T	0.53916	0.1826	N	0.11845	0.185	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.40059	-0.9583	10	0.45353	T	0.12	.	11.0843	0.48078	0.0:0.8505:0.0:0.1495	.	82;82	Q02241-2;Q02241	.;KIF23_HUMAN	Y	82	ENSP00000260363:H82Y;ENSP00000304978:H82Y;ENSP00000378790:H82Y	ENSP00000260363:H82Y	H	+	1	0	KIF23	67501073	0.806000	0.28996	0.370000	0.25965	0.885000	0.51271	1.671000	0.37513	0.833000	0.34828	0.591000	0.81541	CAC	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		C			69714019	1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	0.381	T	T	69714019	C	T	69714019	3	4	118	1	0	0	0	0	1	0	0	0	8311	826	29	1	258	1	KIF23	15	69714019	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2920197	69714019	32817373	134	19015										
ARNT2	9915	genome.wustl.edu	37	chr15	80847445	80847445	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttttggaattctgccaccctGaggatcaaagccatctgcgt	9	11	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:80847445G>A	ENST00000303329.4	+	11	1294	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ARNT2_ENST00000527771.1_Missense_Mutation_p.E366K|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.E366K	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	377	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTGCCACCCTGAGGATCAAAG	0.443																																																	0													191	195	194					15																	80847445		2203	4300	6503	SO:0001583	missense	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1129G>A	15.37:g.80847445G>A	ENSP00000307479:p.Glu377Lys		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.E377K	ENST00000303329.4	37	c.1129	CCDS32307.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.668135	0.96745	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.18174	2.23	4.75	4.75	0.60458	PAS fold-3 (1);PAS (3);	0.048849	0.85682	D	0.000000	T	0.43919	0.1269	M	0.77712	2.385	0.80722	D	1	P	0.50156	0.932	D	0.64776	0.929	T	0.43572	-0.9383	10	0.66056	D	0.02	.	17.9742	0.89122	0.0:0.0:1.0:0.0	.	377	Q9HBZ2	ARNT2_HUMAN	K	366;377;377	ENSP00000307479:E377K	ENSP00000307479:E377K	E	+	1	0	ARNT2	78634500	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	8.636000	0.91010	2.455000	0.83008	0.655000	0.94253	GAG	ARNT2	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.443	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	G			80847445	1	no_errors	ENST00000303329	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80847445	G	A	80847445	3	1	118	1	0	0	0	0	1	0	0	0	967	1291	45	1	1171	1	ARNT2	15	80847445	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	11133426	80847445	21683947	135	19016										
FAM154B	283726	genome.wustl.edu	37	chr15	82575267	82575267	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgatgatgtaaccatgtactCtgtagagtacacaccgaaaa	8	8	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:82575267C>T	ENST00000339465.5	+	3	1130	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.S339F	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	354										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						ACCATGTACTCTGTAGAGTAC	0.393																																																	0													63	64	63					15																	82575267		2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1061C>T	15.37:g.82575267C>T	ENSP00000340445:p.Ser354Phe		B4E2M2	Missense_Mutation	SNP	NULL	p.S354F	ENST00000339465.5	37	c.1061	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405106	0.62288	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17528	2.27;2.27	4.07	3.05	0.35203	.	0.180848	0.33327	N	0.005035	T	0.30103	0.0754	M	0.67953	2.075	0.30427	N	0.777575	P;P	0.52316	0.952;0.952	P;P	0.58577	0.841;0.76	T	0.09707	-1.0662	10	0.66056	D	0.02	-15.8981	7.4478	0.27221	0.144:0.504:0.352:0.0	.	339;354	B4E2M2;Q658L1	.;F154B_HUMAN	F	354;339	ENSP00000340445:S354F;ENSP00000403743:S339F	ENSP00000340445:S354F	S	+	2	0	FAM154B	80362322	0.982000	0.34865	0.448000	0.26945	0.011000	0.07611	2.062000	0.41413	1.988000	0.58038	0.404000	0.27445	TCT	FAM154B	-	NULL		0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	C	NM_001008226		82575267	1	no_errors	ENST00000339465	ensembl	human	known	70_37	missense	SNP	0.900	T	T	82575267	C	T	82575267	3	4	118	1	0	0	0	0	1	0	0	0	5479	913	32	1	1071	1	FAM154B	15	82575267	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1727822	82575267	19956125	136	19017										
WDR90	197335	genome.wustl.edu	37	chr16	711352	711352	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgcctgccaggtcctggcctCtgcctcgggccgaagcagca	13	16	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:711352C>G	ENST00000293879.4	+	30	3524	c.3524C>G	c.(3523-3525)tCt>tGt	p.S1175C	WDR90_ENST00000549091.1_Missense_Mutation_p.S1175C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1175										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCCTGGCCTCTGCCTCGGGC	0.667																																																	0													28	34	32					16																	711352		2166	4247	6413	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3524C>G	16.37:g.711352C>G	ENSP00000293879:p.Ser1175Cys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1175C	ENST00000293879.4	37	c.3524	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738801	0.69304	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.35605	1.3;3.32	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.071371	0.64402	U	0.000018	T	0.74696	0.3750	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84708	0.0732	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	1175;1175	F8VUX9;Q96KV7	.;WDR90_HUMAN	C	1175	ENSP00000448122:S1175C;ENSP00000293879:S1175C	ENSP00000293879:S1175C	S	+	2	0	WDR90	651353	1.000000	0.71417	0.853000	0.33588	0.073000	0.16967	6.767000	0.74975	2.468000	0.83385	0.555000	0.69702	TCT	WDR90	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.667	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	C	NM_145294		711352	1	no_errors	ENST00000549091	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	711352	C	G	711352	3	3	118	1	0	0	0	0	1	0	0	0	17368	913	32	1	3642	1	WDR90	16	711352	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		711352	89643401	137	19018										
ERCC4	2072	genome.wustl.edu	37	chr16	14015888	14015888	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcaagtttgatttgatttagGagtattttatcaatcagctg	8	4	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:14015888G>A	ENST00000311895.7	+	2	217	c.208G>A	c.(208-210)Gag>Aag	p.E70K	ERCC4_ENST00000575156.1_Splice_Site_p.E70K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	70	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTTGATTTAGGAGTATTTTAT	0.348			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													55	51	52					16																	14015888		2197	4300	6497	SO:0001630	splice_region_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.208-1G>A	16.37:g.14015888G>A			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.E70K	ENST00000311895.7	37	c.208	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961085	0.74016	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.56941	0.43	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	M	0.72894	2.215	0.80722	D	1	D;B	0.76494	0.999;0.264	D;B	0.72982	0.979;0.341	T	0.72017	-0.4417	9	.	.	.	-29.641	18.0135	0.89231	0.0:0.0:1.0:0.0	.	70;70	A5PKV6;Q92889	.;XPF_HUMAN	K	70;59;59	ENSP00000310520:E70K	.	E	+	1	0	ERCC4	13923389	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.417000	0.97391	2.470000	0.83445	0.655000	0.94253	GAG	ERCC4	-	NULL		0.348	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236	Missense_Mutation	14015888	1	no_errors	ENST00000311895	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14015888	G	A	14015888	5	1	118	1	0	0	0	0	0	0	1	0	5227	1188	41	1	214	1	ERCC4	16	14015888	Splice_Site	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	13304536	14015888	76338865	138	19019										
TNRC6A	27327	genome.wustl.edu	37	chr16	24805874	24805874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccacaatcagggccaaaatCtatgcaagatggctggtgtg	11	9	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:24805874C>G	ENST00000395799.3	+	8	3491	c.3362C>G	c.(3361-3363)tCt>tGt	p.S1121C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1121C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1121	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGCCAAAATCTATGCAAGAT	0.393																																																	0													106	102	104					16																	24805874		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3362C>G	16.37:g.24805874C>G	ENSP00000379144:p.Ser1121Cys		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.S1121C	ENST00000395799.3	37	c.3362	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.483845|4.483845	0.84854|0.84854	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.51325	.|0.71;0.71	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Argonaute hook domain (1);	.|0.190293	.|0.47852	.|D	.|0.000204	T|T	0.72203|0.72203	0.3431|0.3431	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.76071	.|0.987;0.947;0.979	T|T	0.72871|0.72871	-0.4161|-0.4161	5|10	.|0.72032	.|D	.|0.01	-8.502|-8.502	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|868;1121;1121	.|Q8NDV7-2;Q8NDV7-6;Q8NDV7	.|.;.;TNR6A_HUMAN	M|C	60|1121	.|ENSP00000326900:S1121C;ENSP00000379144:S1121C	.|ENSP00000326900:S1121C	I|S	+|+	3|2	3|0	TNRC6A|TNRC6A	24713375|24713375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.532000|5.532000	0.67154|0.67154	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	ATC|TCT	TNRC6A	-	pfam_Argonaute_hook_dom		0.393	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24805874	1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24805874	C	G	24805874	3	3	118	1	0	0	0	0	1	0	0	0	16370	913	32	1	3392	1	TNRC6A	16	24805874	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	10789986	24805874	65548879	139	19020										
GTF3C1	2975	genome.wustl.edu	37	chr16	27561137	27561137	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	actcgcgtctccagccggctCcacagcgctggcagacacag	11	17	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:27561137C>G	ENST00000356183.4	-	1	90	c.75G>C	c.(73-75)tgG>tgC	p.W25C	KIAA0556_ENST00000261588.4_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.W25C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	25					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCCGGCTCCACAGCGCTG	0.682																																																	0													22	26	25					16																	27561137		2196	4299	6495	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.75G>C	16.37:g.27561137C>G	ENSP00000348510:p.Trp25Cys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.W25C	ENST00000356183.4	37	c.75	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123093	0.77436	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	4.68	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.55832	0.1945	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61023	-0.7146	10	0.87932	D	0	.	12.2231	0.54445	0.0:0.9159:0.0:0.0841	.	25;25	Q12789;Q12789-3	TF3C1_HUMAN;.	C	25	ENSP00000348510:W25C	ENSP00000348510:W25C	W	-	3	0	GTF3C1	27468638	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.983000	0.63832	0.947000	0.37659	0.555000	0.69702	TGG	GTF3C1	-	NULL		0.682	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27561137	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27561137	C	G	27561137	3	3	118	1	0	0	0	0	1	0	0	0	6892	856	30	1	6402	1	GTF3C1	16	27561137	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2755263	27561137	62793616	140	19021										
ATXN2L	11273	genome.wustl.edu	37	chr16	28843580	28843580	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgctgcccctgccccaatctCagcttcctgtccagagcctc	7	19	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:28843580C>A	ENST00000336783.4	+	11	1543	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.S459*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.S459*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.S465*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.S459*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.S459*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.S459*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	459					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCCCAATCTCAGCTTCCTGT	0.592																																																	0													68	67	67					16																	28843580		2197	4300	6497	SO:0001587	stop_gained	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1376C>A	16.37:g.28843580C>A	ENSP00000338718:p.Ser459*		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S459*	ENST00000336783.4	37	c.1376	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	38	7.124463	0.98081	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.67	5.67	0.87782	.	0.204222	0.34531	N	0.003889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1193	17.248	0.87033	0.0:1.0:0.0:0.0	.	.	.	.	X	459	.	ENSP00000315650:S459X	S	+	2	0	ATXN2L	28751081	0.983000	0.35010	0.982000	0.44146	0.988000	0.76386	2.896000	0.48656	2.677000	0.91161	0.491000	0.48974	TCA	ATXN2L	-	NULL		0.592	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	C	NM_007245		28843580	1	no_errors	ENST00000395547	ensembl	human	known	70_37	nonsense	SNP	0.990	A	A	28843580	C	A	28843580	4	1	118	1	0	0	0	0	0	1	0	0	1213	838	29	3	1418	3	ATXN2L	16	28843580	Nonsense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1282443	28843580	61511173	141	19022										
ERBB2	2064	genome.wustl.edu	37	chr17	37866671	37866671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cctacaacacagacacgtttGagtccatgcccaatcccgag	7	15	0	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:37866671G>C	ENST00000269571.5	+	7	997	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	ERBB2_ENST00000584450.1_Missense_Mutation_p.E280Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E265Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.E250Q|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	280					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGACACGTTTGAGTCCATGCC	0.587		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													105	87	93					17																	37866671		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.838G>C	17.37:g.37866671G>C	ENSP00000269571:p.Glu280Gln		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E280Q	ENST00000269571.5	37	c.838	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871565	0.51695	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.82	5.82	0.92795	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.35537	0.0935	N	0.04355	-0.22	0.45822	D	0.998698	B;B;B;B	0.33512	0.415;0.26;0.039;0.028	B;B;B;B	0.24394	0.053;0.029;0.03;0.011	T	0.47032	-0.9148	9	0.02654	T	1	.	18.8605	0.92270	0.0:0.0:1.0:0.0	.	250;265;280;280	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	Q	250;265;280;250;250	ENSP00000385185:E250Q;ENSP00000446466:E265Q;ENSP00000269571:E280Q;ENSP00000443562:E250Q;ENSP00000446382:E250Q	ENSP00000269571:E280Q	E	+	1	0	ERBB2	35120197	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.194000	0.58393	2.765000	0.95021	0.591000	0.81541	GAG	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.587	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37866671	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.999	C	C	37866671	G	C	37866671	3	2	118	1	0	0	0	0	1	0	0	0	5218	1291	45	1	864	1	ERBB2	17	37866671	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		37866671	43328539	142	19023										
KRTAP4-12	83755	genome.wustl.edu	37	chr17	39279950	39279950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tggagatgcagcagctggggCggcagcaggtgggctggcag	21	8	0	1	rs369956813	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:39279950C>T	ENST00000394014.1	-	1	469	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	142	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagctggggcggcagcaggt	0.672													C|||	8	0.00159744	0	0	5008	,	,		15607	0		0	False		,,,				2504	0.0082																0													18	24	22					17																	39279950		2191	4261	6452	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.425G>A	17.37:g.39279950C>T	ENSP00000377582:p.Arg142His		A3KMC5|Q495I0	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R142H	ENST00000394014.1	37	c.425	CCDS32649.1	17	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773518	0.31411	.	.	ENSG00000213416	ENST00000394014	T	0.01505	4.82	5.27	2.08	0.27032	.	0.632318	0.11844	U	0.524024	T	0.01454	0.0047	L	0.32530	0.975	0.09310	N	1	B	0.33583	0.418	B	0.24155	0.051	T	0.49224	-0.8962	10	0.51188	T	0.08	.	4.2814	0.10834	0.3106:0.5115:0.0:0.1779	.	142	Q9BQ66	KR412_HUMAN	H	142	ENSP00000377582:R142H	ENSP00000377582:R142H	R	-	2	0	KRTAP4-12	36533476	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.091000	0.11146	0.277000	0.22141	-0.409000	0.06214	CGC	KRTAP4-12	-	pfam_Keratin-assoc		0.672	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-12	HGNC	protein_coding	OTTHUMT00000257777.1	C			39279950	-1	no_errors	ENST00000394014	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39279950	C	T	39279950	3	4	118	1	0	0	0	0	1	0	0	0	8570	768	27	2	184	2	KRTAP4-12	17	39279950	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1413279	39279950	41915260	143	19024										
KLHL10	317719	genome.wustl.edu	37	chr17	39994305	39994305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tagagggcaagctctgcgacGtggtcatcaaggtcaatggc	14	9	4	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:39994305G>A	ENST00000293303.4	+	1	274	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	KLHL10_ENST00000485613.1_3'UTR|RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|NT5C3B_ENST00000269534.8_5'Flank	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	41	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GCTCTGCGACGTGGTCATCAA	0.507																																																	0													148	151	150					17																	39994305		2076	4204	6280	SO:0001583	missense	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.121G>A	17.37:g.39994305G>A	ENSP00000293303:p.Val41Met		Q6NW28|Q96MC0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V41M	ENST00000293303.4	37	c.121	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935210	0.73442	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.78707	-1.2;-1.2;-1.2	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.312483	0.30723	N	0.009009	D	0.87188	0.6115	M	0.83118	2.625	0.38308	D	0.943173	D;D	0.69078	0.997;0.994	P;P	0.61477	0.852;0.889	D	0.90235	0.4282	10	0.87932	D	0	.	15.1739	0.72896	0.0:0.0:1.0:0.0	.	41;41	B4DXV2;Q6JEL2	.;KLH10_HUMAN	M	41	ENSP00000391983:V41M;ENSP00000293303:V41M;ENSP00000416221:V41M	ENSP00000293303:V41M	V	+	1	0	KLHL10	37247831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.217000	0.77982	2.622000	0.88805	0.650000	0.86243	GTG	KLHL10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.507	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1	G	NM_152467		39994305	1	no_errors	ENST00000293303	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39994305	G	A	39994305	3	1	118	1	0	0	0	0	1	0	0	0	8386	1145	40	2	123	2	KLHL10	17	39994305	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	714355	39994305	41200905	144	19025										
STAT5B	6777	genome.wustl.edu	37	chr17	40353804	40353804	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ctgtccattggccggcccagGagctcctccacacgccgcgc	11	19	0	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:40353804G>A	ENST00000293328.3	-	19	2484	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	772					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCGGCCCAGGAGCTCCTCCA	0.587																																																	0													83	76	78					17																	40353804		2203	4300	6503	SO:0001819	synonymous_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2316C>T	17.37:g.40353804G>A			Q8WWS8	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L772	ENST00000293328.3	37	c.2316	CCDS11423.1	17																																																																																			STAT5B	-	NULL		0.587	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	G	NM_012448		40353804	-1	no_errors	ENST00000293328	ensembl	human	known	70_37	silent	SNP	0.875	A	A	40353804	G	A	40353804	2	1	118	1	0	0	0	0	0	0	0	1	15299	1161	41	1		1	STAT5B	17	40353804	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	359499	40353804	40841406	145	19026										
BRCA1	672	genome.wustl.edu	37	chr17	41219655	41219655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aacaacatgagtagtctcttCagtaattagattagttaaag	7	5	2	2	rs80356958		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:41219655C>T	ENST00000357654.3	-	16	5162	c.5044G>A	c.(5044-5046)Gaa>Aaa	p.E1682K	BRCA1_ENST00000493795.1_Missense_Mutation_p.E1635K|BRCA1_ENST00000491747.2_Missense_Mutation_p.E578K|BRCA1_ENST00000591534.1_Missense_Mutation_p.E173K|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E540K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E499K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E578K|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E1386K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1703K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1682	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGTCTCTTCAGTAATTAGA	0.383			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													137	132	134					17																	41219655		2202	4300	6502	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5044G>A	17.37:g.41219655C>T	ENSP00000350283:p.Glu1682Lys		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E1703K	ENST00000357654.3	37	c.5107	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437560	0.62955	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;T;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-1.12;-2.21;-2.21;-2.21;-2.21	5.24	5.24	0.73138	BRCT (4);	0.000000	0.52532	D	0.000065	D	0.91143	0.7211	L	0.49513	1.565	0.34144	D	0.666745	D;P;D;D;D;D;B;D	0.89917	1.0;0.874;0.998;0.962;0.998;0.999;0.102;0.999	D;B;D;P;D;D;B;D	0.81914	0.995;0.163;0.99;0.541;0.993;0.994;0.024;0.989	D	0.94032	0.7302	10	0.87932	D	0	.	14.6742	0.68967	0.0:1.0:0.0:0.0	.	578;531;577;579;578;1704;1682;1682	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	K	1682;1703;540;499;1386;578;531;1704;1635;577;578;453;532	ENSP00000350283:E1682K;ENSP00000312236:E540K;ENSP00000338007:E499K;ENSP00000310938:E1386K;ENSP00000417148:E578K;ENSP00000377294:E531K;ENSP00000418960:E1704K;ENSP00000418775:E1635K;ENSP00000420412:E578K;ENSP00000419481:E453K;ENSP00000418819:E532K	ENSP00000310938:E1386K	E	-	1	0	BRCA1	38473181	0.997000	0.39634	0.995000	0.50966	0.701000	0.40568	1.843000	0.39259	2.600000	0.87896	0.555000	0.69702	GAA	BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41219655	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41219655	C	T	41219655	3	4	118	1	0	0	0	0	1	0	0	0	1501	835	29	1	579	1	BRCA1	17	41219655	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	865851	41219655	39975555	146	19027										
CACNG5	27091	genome.wustl.edu	37	chr17	64876774	64876774	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cacatccgtccccaccggacGatactggcctttgtctctgg	9	16	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:64876774G>A	ENST00000533854.1	+	4	621	c.384G>A	c.(382-384)acG>acA	p.T128T	CACNG5_ENST00000307139.3_Silent_p.T128T|CACNG5_ENST00000169565.3_Silent_p.T128T			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	128					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.T128T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCACCGGACGATACTGGCCT	0.443																																																	2	Substitution - coding silent(2)	endometrium(2)											264	224	238					17																	64876774		2203	4300	6503	SO:0001819	synonymous_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.384G>A	17.37:g.64876774G>A			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.T128	ENST00000533854.1	37	c.384	CCDS11665.1	17																																																																																			CACNG5	-	pfam_PMP22/EMP/MP20/Claudin		0.443	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	G	NM_014404, NM_145811		64876774	1	no_errors	ENST00000169565	ensembl	human	known	70_37	silent	SNP	0.765	A	A	64876774	G	A	64876774	2	1	118	1	0	0	0	0	0	0	0	1	2565	1045	37	1		1	CACNG5	17	64876774	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	23657119	64876774	16318436	147	19028										
GRIN2C	2905	genome.wustl.edu	37	chr17	72842272	72842272	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgggagtccttctgcatggcGatgccgtagccagtggtagc	15	10	1	0	rs546891526		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:72842272G>A	ENST00000293190.5	-	11	2429	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	GRIN2C_ENST00000347612.4_Silent_p.I761I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	761					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.I761I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGCATGGCGATGCCGTAGC	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		20471	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	central_nervous_system(1)											185	132	150					17																	72842272		2203	4300	6503	SO:0001819	synonymous_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2283C>T	17.37:g.72842272G>A			B2RTT1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I761	ENST00000293190.5	37	c.2283	CCDS32724.1	17																																																																																			GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	G			72842272	-1	no_errors	ENST00000293190	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72842272	G	A	72842272	2	1	118	1	0	0	0	0	0	0	0	1	6801	1048	37	1		1	GRIN2C	17	72842272	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	7965498	72842272	8352938	148	19029										
GPS1	2873	genome.wustl.edu	37	chr17	80014956	80014956	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccagagaagggagccaggggGagctgactccagccaacagc	15	12	0	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:80014956G>T	ENST00000306823.6	+	13	1452	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	GPS1_ENST00000355130.2_Nonsense_Mutation_p.E513*|GPS1_ENST00000578552.1_Nonsense_Mutation_p.E473*|GPS1_ENST00000320548.4_Nonsense_Mutation_p.E457*|GPS1_ENST00000392358.2_Nonsense_Mutation_p.E513*			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	477					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGCCAGGGGGAGCTGACTCC	0.677																																																	0													42	45	44					17																	80014956		2203	4299	6502	SO:0001587	stop_gained	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1429G>T	17.37:g.80014956G>T	ENSP00000302873:p.Glu477*		Q8NA10|Q9BWL1	Nonsense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E513*	ENST00000306823.6	37	c.1537	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	g	41	9.005155	0.99033	.	.	ENSG00000169727	ENST00000392358;ENST00000306823;ENST00000355130	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.8313	0.88683	0.0:0.0:1.0:0.0	.	.	.	.	X	513;477;513	.	ENSP00000302873:E477X	E	+	1	0	GPS1	77608245	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.441000	0.82636	0.457000	0.33378	GAG	GPS1	-	NULL		0.677	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	G	NM_212492		80014956	1	no_errors	ENST00000355130	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	80014956	G	T	80014956	4	4	118	1	0	0	0	0	0	1	0	0	6752	1175	41	3	1636	3	GPS1	17	80014956	Nonsense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	7172684	80014956	1180254	149	19030										
LIPG	9388	genome.wustl.edu	37	chr18	47101933	47101933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	agccaggctgtggactcaacGatgtcttgggatcaattgca	12	9	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr18:47101933G>A	ENST00000261292.4	+	5	1044	c.766G>A	c.(766-768)Gat>Aat	p.D256N	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Missense_Mutation_p.D256N|LIPG_ENST00000577628.1_Missense_Mutation_p.D292N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	256					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.D256N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGACTCAACGATGTCTTGGG	0.483																																					Pancreas(126;280 1778 12814 26243 34948)												1	Substitution - Missense(1)	large_intestine(1)											76	63	67					18																	47101933		2203	4300	6503	SO:0001583	missense	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.766G>A	18.37:g.47101933G>A	ENSP00000261292:p.Asp256Asn		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep	p.D256N	ENST00000261292.4	37	c.766	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949266	0.18356	.	.	ENSG00000101670	ENST00000261292	D	0.90069	-2.61	5.72	3.9	0.45041	Lipase, N-terminal (1);	0.262486	0.37530	N	0.002057	T	0.74336	0.3703	N	0.11651	0.15	0.46396	D	0.999023	P;P	0.39443	0.592;0.674	B;B	0.35770	0.21;0.133	T	0.69232	-0.5199	10	0.11182	T	0.66	-11.8577	10.6883	0.45856	0.0684:0.0:0.7993:0.1323	.	256;256	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	N	256	ENSP00000261292:D256N	ENSP00000261292:D256N	D	+	1	0	LIPG	45355931	1.000000	0.71417	0.004000	0.12327	0.491000	0.33493	6.824000	0.75288	0.739000	0.32628	0.591000	0.81541	GAT	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.483	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	G	NM_006033		47101933	1	no_errors	ENST00000261292	ensembl	human	known	70_37	missense	SNP	0.956	A	A	47101933	G	A	47101933	3	1	118	1	0	0	0	0	1	0	0	0	8844	1058	37	1	784	1	LIPG	18	47101933	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		47101933	30975315	150	19031										
BSG	682	genome.wustl.edu	37	chr19	577916	577916	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	aacgacacctgctcccagctCtgggacggcgcccggctgga	13	16	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:577916C>G	ENST00000333511.3	+	2	280	c.210C>G	c.(208-210)ctC>ctG	p.L70L	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	70					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCAGCTCTGGGACGGCG	0.692																																																	0													28	27	27					19																	577916		2197	4295	6492	SO:0001819	synonymous_variant	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.210C>G	19.37:g.577916C>G			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L70	ENST00000333511.3	37	c.210	CCDS12033.1	19																																																																																			BSG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.692	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		577916	1	no_errors	ENST00000333511	ensembl	human	known	70_37	silent	SNP	0.987	G	G	577916	C	G	577916	2	3	118	1	0	0	0	0	0	0	0	1	1532	900	32	1		1	BSG	19	577916	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		577916	58551067	151	19032			1	87		3	3	1621	C		4.703626e-05
BSG	682	genome.wustl.edu	37	chr19	579513	579513	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cttgcagccggcacagtcttCactaccgtagaagaccttgg	10	13	2	2	rs559463709	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:579513C>T	ENST00000333511.3	+	3	499	c.429C>T	c.(427-429)ttC>ttT	p.F143F	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Silent_p.F27F|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	143	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTCTTCACTACCGTAG	0.662																																																	0													41	38	39					19																	579513		2198	4296	6494	SO:0001819	synonymous_variant	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.429C>T	19.37:g.579513C>T			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F143	ENST00000333511.3	37	c.429	CCDS12033.1	19																																																																																			BSG	-	pfscan_Ig-like		0.662	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		579513	1	no_errors	ENST00000333511	ensembl	human	known	70_37	silent	SNP	0.000	T	T	579513	C	T	579513	2	4	118	1	0	0	0	0	0	0	0	1	1532	825	29	1		1	BSG	19	579513	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1597	579513	58549470	152	19033			1	87		3	3	1621	C		4.703626e-05
BSG	682	genome.wustl.edu	37	chr19	579536	579536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	taccgtagaagaccttggctCcaagatactcctcacctgct	7	14	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:579536C>G	ENST00000333511.3	+	3	522	c.452C>G	c.(451-453)tCc>tGc	p.S151C	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.S35C|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	151	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTTGGCTCCAAGATACTC	0.657																																																	0													53	47	49					19																	579536		2201	4298	6499	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.452C>G	19.37:g.579536C>G	ENSP00000333769:p.Ser151Cys		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S151C	ENST00000333511.3	37	c.452	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407377	0.42715	.	.	ENSG00000172270	ENST00000333511;ENST00000353555	T;T	0.15487	2.42;2.88	4.13	2.97	0.34412	Immunoglobulin-like (1);	0.422533	0.24472	N	0.038239	T	0.39384	0.1076	M	0.80183	2.485	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.72625	0.963;0.93;0.978;0.93	T	0.06991	-1.0796	10	0.72032	D	0.01	-26.893	9.7468	0.40451	0.2213:0.7787:0.0:0.0	.	35;151;35;151	P35613-2;B4DNE1;Q54A51;P35613	.;.;.;BASI_HUMAN	C	151;35	ENSP00000333769:S151C;ENSP00000343809:S35C	ENSP00000333769:S151C	S	+	2	0	BSG	530536	0.006000	0.16342	0.009000	0.14445	0.004000	0.04260	2.241000	0.43097	1.867000	0.54127	0.555000	0.69702	TCC	BSG	-	pfscan_Ig-like		0.657	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		579536	1	no_errors	ENST00000333511	ensembl	human	known	70_37	missense	SNP	0.001	G	G	579536	C	G	579536	3	3	118	1	0	0	0	0	1	0	0	0	1532	855	30	1	498	1	BSG	19	579536	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	23	579536	58549447	153	19034			1	87		3	3	1621	C		4.703626e-05
TMEM59L	25789	genome.wustl.edu	37	chr19	18724918	18724918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ctcccacctcccacagcctgCgtggaagcctatgtgaagga	10	15	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:18724918C>T	ENST00000600490.1	+	4	506	c.321C>T	c.(319-321)tgC>tgT	p.C107C	TMEM59L_ENST00000262817.3_Silent_p.C107C			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	107						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCACAGCCTGCGTGGAAGCCT	0.711																																																	0													17	18	17					19																	18724918		2199	4295	6494	SO:0001819	synonymous_variant	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.321C>T	19.37:g.18724918C>T				Silent	SNP	pfam_Uncharacterised_TMEM59	p.C107	ENST00000600490.1	37	c.321	CCDS12383.1	19																																																																																			TMEM59L	-	pfam_Uncharacterised_TMEM59		0.711	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	C			18724918	1	no_errors	ENST00000262817	ensembl	human	known	70_37	silent	SNP	0.596	T	T	18724918	C	T	18724918	2	4	118	1	0	0	0	0	0	0	0	1	16216	776	27	2		2	TMEM59L	19	18724918	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	18145382	18724918	40404065	154	19035										
SLC7A10	56301	genome.wustl.edu	37	chr19	33706703	33706703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcccccgaagatctctgtgaCgtaggcgtagtccccgccag	12	15	1	2	rs551036567		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:33706703C>T	ENST00000253188.4	-	2	474	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	110					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATCTCTGTGACGTAGGCGTAG	0.657																																																	0													37	32	34					19																	33706703		2178	4281	6459	SO:0001583	missense	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.328G>A	19.37:g.33706703C>T	ENSP00000253188:p.Val110Ile		B2RE84	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.V110I	ENST00000253188.4	37	c.328	CCDS12431.1	19	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965812	0.34659	.	.	ENSG00000130876	ENST00000253188	D	0.90069	-2.61	4.79	4.79	0.61399	Amino acid permease domain (1);	0.062472	0.64402	D	0.000005	T	0.81791	0.4897	N	0.16233	0.39	0.80722	D	1	P	0.49696	0.927	P	0.46796	0.527	T	0.80195	-0.1483	10	0.02654	T	1	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	110	Q9NS82	AAA1_HUMAN	I	110	ENSP00000253188:V110I	ENSP00000253188:V110I	V	-	1	0	SLC7A10	38398543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.240000	0.73641	0.456000	0.33151	GTC	SLC7A10	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.657	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2	C	NM_019849		33706703	-1	no_errors	ENST00000253188	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33706703	C	T	33706703	3	4	118	1	0	0	0	0	1	0	0	0	14723	536	19	2	1283	2	SLC7A10	19	33706703	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	14981785	33706703	25422280	155	19036										
HPN	3249	genome.wustl.edu	37	chr19	35557160	35557160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgtctttccccagactcactCcgaagccagcggcatggtga	10	14	2	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:35557160C>T	ENST00000262626.2	+	13	2048	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	HPN_ENST00000597419.1_Missense_Mutation_p.S250F|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.S408F	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	408					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CAGACTCACTCCGAAGCCAGC	0.652																																																	0													42	43	42					19																	35557160		2203	4300	6503	SO:0001583	missense	3249				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1223C>T	19.37:g.35557160C>T	ENSP00000262626:p.Ser408Phe		B2RDS4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S408F	ENST00000262626.2	37	c.1223	CCDS32993.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342162	0.41498	.	.	ENSG00000105707	ENST00000262626;ENST00000392226	D;D	0.89196	-2.48;-2.48	4.72	3.68	0.42216	.	0.307092	0.29884	N	0.010957	D	0.92103	0.7497	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	P	0.58721	0.844	D	0.92122	0.5705	10	0.87932	D	0	.	10.0722	0.42339	0.2006:0.7994:0.0:0.0	.	408	P05981	HEPS_HUMAN	F	408	ENSP00000262626:S408F;ENSP00000376060:S408F	ENSP00000262626:S408F	S	+	2	0	HPN	40249000	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	2.562000	0.45914	1.192000	0.43071	-0.321000	0.08615	TCC	HPN	-	NULL		0.652	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	HGNC	protein_coding	OTTHUMT00000461573.1	C	NM_002151		35557160	1	no_errors	ENST00000262626	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35557160	C	T	35557160	3	4	118	1	0	0	0	0	1	0	0	0	7356	855	30	1	1269	1	HPN	19	35557160	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1850457	35557160	23571823	156	19037										
PPP1R14A	94274	genome.wustl.edu	37	chr19	38742017	38742017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gaggctgccgtcgtgggaggGgcttggctggcggaggccgg	23	9	0	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:38742017G>T	ENST00000301242.4	-	4	636	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	PPP1R14A_ENST00000347262.4_Missense_Mutation_p.P102T|PPP1R14A_ENST00000591291.1_Intron|PPP1R14A_ENST00000587515.1_Missense_Mutation_p.P59T	NM_033256.2	NP_150281.1	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	129					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGTGGGAGGGGCTTGGCTGG	0.692																																																	0													14	19	17					19																	38742017		2171	4257	6428	SO:0001583	missense	94274			AB056508	CCDS12509.1, CCDS58660.1	19q13.1	2012-04-17		2001-07-02	ENSG00000167641	ENSG00000167641		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14871	protein-coding gene	gene with protein product	"17-kDa PKC-potentiated inhibitory protein of PP1", "PKC-potentiated inhibitory protein of PP1", "17-KDa protein"	608153		PPP1INL		11467857	Standard	NM_033256		Approved	CPI-17	uc002ohq.3	Q96A00		ENST00000301242.4:c.385C>A	19.37:g.38742017G>T	ENSP00000301242:p.Pro129Thr		Q7Z4X7|Q96S54	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.P129T	ENST00000301242.4	37	c.385	CCDS12509.1	19	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044386	0.36085	.	.	ENSG00000167641	ENST00000347262;ENST00000301242	.	.	.	4.64	4.64	0.57946	.	0.448629	0.23821	N	0.044230	T	0.61073	0.2318	L	0.42245	1.32	0.80722	D	1	P;D	0.57257	0.936;0.979	P;P	0.54759	0.553;0.76	T	0.60806	-0.7190	9	0.41790	T	0.15	-28.8337	13.001	0.58676	0.0:0.0:1.0:0.0	.	102;129	Q96A00-2;Q96A00	.;PP14A_HUMAN	T	102;129	.	ENSP00000301242:P129T	P	-	1	0	PPP1R14A	43433857	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	1.741000	0.38238	2.101000	0.63845	0.462000	0.41574	CCC	PPP1R14A	-	pfam_PP1_inhibitor		0.692	PPP1R14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14A	HGNC	protein_coding	OTTHUMT00000458164.1	G	NM_033256		38742017	-1	no_errors	ENST00000301242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38742017	G	T	38742017	3	4	118	1	0	0	0	0	1	0	0	0	12386	1232	43	4	62	4	PPP1R14A	19	38742017	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	3184857	38742017	20386966	157	19038										
ZNF780A	284323	genome.wustl.edu	37	chr19	40580980	40580980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atgttcaataagttggcaatGatatctaaaggccatctcac	7	8	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:40580980G>A	ENST00000595687.2	-	6	1578	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	ZNF780A_ENST00000340963.5_Missense_Mutation_p.H457Y|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H458Y|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H458Y|ZNF780A_ENST00000450241.2_Missense_Mutation_p.H423Y	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGGCAATGATATCTAAAG	0.408																																																	0													163	154	157					19																	40580980		2203	4300	6503	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1369C>T	19.37:g.40580980G>A	ENSP00000472189:p.His457Tyr		E9PB48|Q6ZN87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H458Y	ENST00000595687.2	37	c.1372	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977952	0.34942	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	D;T;T	0.86769	-2.17;1.93;1.93	1.93	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80037	0.4550	N	0.12920	0.275	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.61477	0.889;0.722	T	0.69632	-0.5093	9	0.02654	T	1	.	6.7044	0.23242	0.0:0.0:0.3127:0.6872	.	458;457	E9PB48;O75290	.;Z780A_HUMAN	Y	457;458;457	ENSP00000387705:H457Y;ENSP00000400997:H458Y;ENSP00000341507:H457Y	ENSP00000341507:H457Y	H	-	1	0	ZNF780A	45272820	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	-0.409000	0.07160	0.063000	0.16370	0.313000	0.20887	CAT	ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	G	NM_001010880		40580980	-1	no_errors	ENST00000455521	ensembl	human	known	70_37	missense	SNP	0.000	A	A	40580980	G	A	40580980	3	1	118	1	0	0	0	0	1	0	0	0	18182	1290	45	1	687	1	ZNF780A	19	40580980	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1838963	40580980	18548003	158	19039										
TSKS	60385	genome.wustl.edu	37	chr19	50249909	50249909	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcggcggggcccaggctgttCcaggagaggccagcctccgg	18	14	0	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:50249909C>T	ENST00000246801.3	-	6	892	c.810G>A	c.(808-810)tgG>tgA	p.W270*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.W70*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	270					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGCTGTTCCAGGAGAGGC	0.736																																																	0													12	13	13					19																	50249909		2186	4270	6456	SO:0001587	stop_gained	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.810G>A	19.37:g.50249909C>T	ENSP00000246801:p.Trp270*		Q8WXJ0	Nonsense_Mutation	SNP	NULL	p.W270*	ENST00000246801.3	37	c.810	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338301	0.60963	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	.	.	.	4.56	-0.271	0.12922	.	0.914943	0.08939	N	0.871939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.3438	4.5513	0.12114	0.0:0.5492:0.1627:0.2881	.	.	.	.	X	270;70	.	ENSP00000246801:W270X	W	-	3	0	TSKS	54941721	0.972000	0.33761	0.564000	0.28396	0.016000	0.09150	0.551000	0.23361	0.153000	0.19213	0.591000	0.81541	TGG	TSKS	-	NULL		0.736	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50249909	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	nonsense	SNP	0.261	T	T	50249909	C	T	50249909	4	4	118	1	0	0	0	0	0	1	0	0	16657	856	30	1	992	1	TSKS	19	50249909	Nonsense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	9668929	50249909	8879074	159	19040			2	88	49670373	3	3	36	C		2.147702e-08
TSKS	60385	genome.wustl.edu	37	chr19	50249926	50249926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gttccaggagaggccagcctCcggcttctgcttctcctccg	11	16	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:50249926C>T	ENST00000246801.3	-	6	875	c.793G>A	c.(793-795)Gag>Aag	p.E265K	TSKS_ENST00000358830.3_Missense_Mutation_p.E65K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	265					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCAGcctccggcttctgc	0.726																																																	0													13	13	13					19																	50249926		2185	4277	6462	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.793G>A	19.37:g.50249926C>T	ENSP00000246801:p.Glu265Lys		Q8WXJ0	Missense_Mutation	SNP	NULL	p.E265K	ENST00000246801.3	37	c.793	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206073	0.58234	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.32753	1.44;1.44	4.78	2.44	0.29823	.	0.292775	0.24336	N	0.039419	T	0.18759	0.0450	L	0.29908	0.895	0.31210	N	0.698787	P	0.40180	0.705	B	0.38264	0.269	T	0.10359	-1.0633	10	0.23891	T	0.37	-26.5757	7.6078	0.28112	0.1869:0.6323:0.1808:0.0	.	265	Q9UJT2	TSKS_HUMAN	K	265;65	ENSP00000246801:E265K;ENSP00000351691:E65K	ENSP00000246801:E265K	E	-	1	0	TSKS	54941738	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.832000	0.39151	1.166000	0.42689	0.591000	0.81541	GAG	TSKS	-	NULL		0.726	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50249926	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	0.998	T	T	50249926	C	T	50249926	3	4	118	1	0	0	0	0	1	0	0	0	16657	864	30	1	1009	1	TSKS	19	50249926	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	17	50249926	8879057	160	19041			2	88	49670373	3	3	36	C		2.147702e-08
TSKS	60385	genome.wustl.edu	37	chr19	50249944	50249944	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ctccggcttctgcttctcctCcggctcctgcttctcctccg	7	20	3	0	rs550916960|rs59626794	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:50249944C>G	ENST00000246801.3	-	6	857	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	TSKS_ENST00000358830.3_Missense_Mutation_p.E59Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	259					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tgcttctcctccggctcctgc	0.711																																																	0													13	13	13					19																	50249944		2186	4278	6464	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.775G>C	19.37:g.50249944C>G	ENSP00000246801:p.Glu259Gln		Q8WXJ0	Missense_Mutation	SNP	NULL	p.E259Q	ENST00000246801.3	37	c.775	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227959	0.22542	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.46819	1.46;0.86	.	.	.	.	0.000000	0.47852	D	0.000215	T	0.25494	0.0620	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12167	-1.0558	9	0.13470	T	0.59	-16.272	3.5848	0.07966	0.0:0.5:0.5:0.0	.	259	Q9UJT2	TSKS_HUMAN	Q	259;59	ENSP00000246801:E259Q;ENSP00000351691:E59Q	ENSP00000246801:E259Q	E	-	1	0	TSKS	54941756	0.233000	0.23772	0.791000	0.31998	0.550000	0.35303	0.000000	0.12993	-0.000000	0.14550	0.000000	0.15137	GAG	TSKS	-	NULL		0.711	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50249944	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	0.382	G	G	50249944	C	G	50249944	3	3	118	1	0	0	0	0	1	0	0	0	16657	864	30	1	1027	1	TSKS	19	50249944	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	18	50249944	8879039	161	19042			2	88	49670373	3	3	36	C		2.147702e-08
CACNG6	59285	genome.wustl.edu	37	chr19	54515263	54515263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccgtgagggccctgctgcaGagagtcagcccggagcctcc	14	15	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:54515263G>A	ENST00000252729.2	+	4	1193	c.603G>A	c.(601-603)caG>caA	p.Q201Q	CACNG6_ENST00000352529.1_Silent_p.Q130Q|CACNG6_ENST00000346968.2_Silent_p.Q155Q	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	201					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCCTGCTGCAGAGAGTCAGCC	0.706																																																	0													33	36	35					19																	54515263		2203	4300	6503	SO:0001819	synonymous_variant	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.603G>A	19.37:g.54515263G>A				Silent	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.Q201	ENST00000252729.2	37	c.603	CCDS12870.1	19																																																																																			CACNG6	-	NULL		0.706	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1	G			54515263	1	no_errors	ENST00000252729	ensembl	human	known	70_37	silent	SNP	0.112	A	A	54515263	G	A	54515263	2	1	118	1	0	0	0	0	0	0	0	1	2566	933	33	1		1	CACNG6	19	54515263	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	4265319	54515263	4613720	162	19043										
KIR2DL1	3811	genome.wustl.edu	37	chr19	55294399	55294399	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccccgacacctgcacattctGattgggacctcagtggtcat	9	14	3	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:55294399G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.L273L|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Silent_p.L247L|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Silent_p.L247L|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGCACATTCTGATTGGGACCT	0.448																																																	0													20	17	18					19																	55294399		2158	4142	6300	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34590G>A	19.37:g.55294399G>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.L247	ENST00000538269.1	37	c.741		19																																																																																			KIR2DL1	-	NULL		0.448	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		G	NM_013289		55294399	1	no_errors	ENST00000336077	ensembl	human	known	70_37	silent	SNP	0.050	A	A	55294399	G	A	55294399	1	1	118	0	1	0	0	0	0	0	0	0	8336	1277	45	1		1	KIR2DL1	19	55294399	Intron	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	779136	55294399	3834584	163	19044										
NLRP8	126205	genome.wustl.edu	37	chr19	56490823	56490823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcttccatgctccgcaaaaaCcaacatctgagacatctgga	7	13	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:56490823C>A	ENST00000291971.3	+	9	3011	c.2940C>A	c.(2938-2940)aaC>aaA	p.N980K	NLRP8_ENST00000590542.1_Missense_Mutation_p.N961K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	980					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCGCAAAAACCAACATCTGA	0.502																																																	0													138	131	134					19																	56490823		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2940C>A	19.37:g.56490823C>A	ENSP00000291971:p.Asn980Lys		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N980K	ENST00000291971.3	37	c.2940	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650757	0.29336	.	.	ENSG00000179709	ENST00000291971	T	0.58060	0.36	2.03	0.969	0.19686	.	.	.	.	.	T	0.64125	0.2570	M	0.71581	2.175	0.09310	N	1	D;D	0.63880	0.992;0.993	D;D	0.70016	0.956;0.967	T	0.49661	-0.8916	9	0.46703	T	0.11	.	4.7643	0.13125	0.0:0.8135:0.0:0.1865	.	961;980	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	980	ENSP00000291971:N980K	ENSP00000291971:N980K	N	+	3	2	NLRP8	61182635	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.237000	0.17985	0.426000	0.26116	0.603000	0.83216	AAC	NLRP8	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.502	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	C	NM_176811		56490823	1	no_errors	ENST00000291971	ensembl	human	known	70_37	missense	SNP	0.001	A	A	56490823	C	A	56490823	3	1	118	1	0	0	0	0	1	0	0	0	10507	506	18	4	2974	4	NLRP8	19	56490823	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1196424	56490823	2638160	164	19045										
ZNF667	63934	genome.wustl.edu	37	chr19	56953204	56953204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccttctcacatttattgcatCtgtatagtttttctccatta	3	10	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:56953204C>T	ENST00000504904.3	-	7	1879	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.R515K|ZNF667_ENST00000292069.6_Missense_Mutation_p.R387K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTATTGCATCTGTATAGTTT	0.353																																																	0													68	72	70					19																	56953204		2203	4300	6503	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1160G>A	19.37:g.56953204C>T	ENSP00000439402:p.Arg387Lys		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R515K	ENST00000504904.3	37	c.1544	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	C	1.193	-0.634748	0.03584	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.39229	1.09;2.41;2.41	5.05	-5.97	0.02227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.107710	0.07041	N	0.830154	T	0.12305	0.0299	N	0.00801	-1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38373	-0.9664	10	0.14252	T	0.57	-2.2849	10.4388	0.44452	0.0:0.1689:0.1153:0.7158	.	515;387	E7EPS0;Q5HYK9	.;ZN667_HUMAN	K	515;387;387;169	ENSP00000344699:R515K;ENSP00000439402:R387K;ENSP00000292069:R387K	ENSP00000292069:R387K	R	-	2	0	ZNF667	61645016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.661000	0.01972	-0.944000	0.03686	-0.948000	0.02665	AGA	ZNF667	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	C	NM_022103		56953204	-1	no_errors	ENST00000342634	ensembl	human	known	70_37	missense	SNP	0.000	T	T	56953204	C	T	56953204	3	4	118	1	0	0	0	0	1	0	0	0	18104	913	32	1	676	1	ZNF667	19	56953204	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	462381	56953204	2175779	165	19046										
ZIK1	284307	genome.wustl.edu	37	chr19	58101681	58101681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gtatgtcattgaagccctttCgcaaatgggaggttggaaag	13	6	1	1	rs199973825		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:58101681C>T	ENST00000597850.1	+	4	717	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R113C|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAGCCCTTTCGCAAATGGGA	0.502																																																	0													75	69	71					19																	58101681		2203	4300	6503	SO:0001583	missense	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.502C>T	19.37:g.58101681C>T	ENSP00000472867:p.Arg168Cys		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R168C	ENST00000597850.1	37	c.502	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301700	0.10678	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05199	3.48	2.97	-5.94	0.02247	.	.	.	.	.	T	0.03827	0.0108	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41645	-0.9497	9	0.62326	D	0.03	.	0.6393	0.00807	0.3591:0.2262:0.1073:0.3075	.	155;168	F5H435;Q3SY52	.;ZIK1_HUMAN	C	155;149;168	ENSP00000438487:R155C	ENSP00000303820:R168C	R	+	1	0	ZIK1	62793493	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.821000	0.00096	-2.320000	0.00642	-1.319000	0.01295	CGC	ZIK1	-	NULL		0.502	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	C	NM_001010879		58101681	1	no_errors	ENST00000597850	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58101681	C	T	58101681	3	4	118	1	0	0	0	0	1	0	0	0	17713	884	31	1	516	1	ZIK1	19	58101681	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	1148477	58101681	1027302	166	19047										
BCL2L1	598	genome.wustl.edu	37	chr20	30309776	30309776	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcttgctttactgctgccatGgggatcacctcccgggcatc	11	14	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:30309776G>C	ENST00000307677.4	-	2	656	c.246C>G	c.(244-246)ccC>ccG	p.P82P	BCL2L1_ENST00000376062.2_Silent_p.P82P|BCL2L1_ENST00000420653.1_Silent_p.P82P|BCL2L1_ENST00000376055.4_Silent_p.P82P	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	82					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CTGCTGCCATGGGGATCACCT	0.622																																					Colon(51;693 1004 1401 20431 21026)												0													83	76	78					20																	30309776		2203	4300	6503	SO:0001819	synonymous_variant	598			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	992	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 52"	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.246C>G	20.37:g.30309776G>C			E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX	p.P82	ENST00000307677.4	37	c.246	CCDS13189.1	20																																																																																			BCL2L1	-	prints_Apop_reg_BclX,tigrfam_Bcl2/BclX		0.622	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCL2L1	HGNC	protein_coding	OTTHUMT00000078575.1	G	NM_138578		30309776	-1	no_errors	ENST00000307677	ensembl	human	known	70_37	silent	SNP	1.000	C	C	30309776	G	C	30309776	2	2	118	1	0	0	0	0	0	0	0	1	1368	1335	47	4		4	BCL2L1	20	30309776	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		30309776	32715744	167	19048										
PHF20	51230	genome.wustl.edu	37	chr20	34505430	34505430	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ggataatttgagtgagtcctCttctgagagctttctctgga	11	7	3	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:34505430C>G	ENST00000374012.3	+	13	1979	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	617					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGTGAGTCCTCTTCTGAGAGC	0.403																																																	0													110	89	96					20																	34505430		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1850C>G	20.37:g.34505430C>G	ENSP00000363124:p.Ser617Cys		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.S617C	ENST00000374012.3	37	c.1850	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091615	0.55968	.	.	ENSG00000025293	ENST00000374012;ENST00000420233	T	0.37584	1.19	5.97	5.97	0.96955	.	0.047856	0.85682	D	0.000000	T	0.31263	0.0791	L	0.38953	1.18	0.80722	D	1	B	0.28971	0.229	B	0.27608	0.081	T	0.03717	-1.1010	10	0.39692	T	0.17	.	15.492	0.75615	0.0:0.862:0.138:0.0	.	617	Q9BVI0	PHF20_HUMAN	C	617;14	ENSP00000363124:S617C	ENSP00000363124:S617C	S	+	2	0	PHF20	33968844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.185000	0.65076	2.835000	0.97688	0.591000	0.81541	TCT	PHF20	-	NULL		0.403	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	C	NM_016436		34505430	1	no_errors	ENST00000374012	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34505430	C	G	34505430	3	3	118	1	0	0	0	0	1	0	0	0	11855	913	32	1	1896	1	PHF20	20	34505430	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	4195654	34505430	28520090	168	19049										
CHD6	84181	genome.wustl.edu	37	chr20	40045902	40045902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gctgagcaatagtgggagctCgagcctcctgtagctcatcc	12	12	1	1	rs181643165		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:40045902C>T	ENST00000373233.3	-	32	6392	c.6215G>A	c.(6214-6216)cGa>cAa	p.R2072Q	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2072					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTGGGAGCTCGAGCCTCCTG	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		15610	0		0	False		,,,				2504	0																0								C	GLN/ARG	0,4406		0,0,2203	115	117	116		6215	5.4	0.6	20		116	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHD6	NM_032221.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	2072/2716	40045902	2,13004	2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6215G>A	20.37:g.40045902C>T	ENSP00000362330:p.Arg2072Gln		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2072Q	ENST00000373233.3	37	c.6215	CCDS13317.1	20	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.66	3.185763	0.57909	0.0	2.33E-4	ENSG00000124177	ENST00000373233	D	0.86030	-2.06	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000064	D	0.91264	0.7246	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.88425	0.3031	10	0.25751	T	0.34	-17.3894	19.623	0.95667	0.0:1.0:0.0:0.0	.	2072	Q8TD26	CHD6_HUMAN	Q	2072	ENSP00000362330:R2072Q	ENSP00000362330:R2072Q	R	-	2	0	CHD6	39479316	0.993000	0.37304	0.619000	0.29118	0.132000	0.20833	5.431000	0.66507	2.702000	0.92279	0.655000	0.94253	CGA	CHD6	-	NULL		0.527	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40045902	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	0.889	T	T	40045902	C	T	40045902	3	4	118	1	0	0	0	0	1	0	0	0	3334	884	31	1	1956	1	CHD6	20	40045902	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	5540472	40045902	22979618	169	19050										
GNAS	2778	genome.wustl.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80	78	79					20																	57484421		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202H	ENST00000371085.3	37	c.605	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	G	NM_000516		57484421	1	no_errors	ENST00000354359	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57484421	G	A	57484421	3	1	118	1	0	0	0	0	1	0	0	0	6529	1145	40	2	3449	2	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	17438519	57484421	5541099	170	19051										
OSBPL2	9885	genome.wustl.edu	37	chr20	60854321	60854321	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttcctgttccatggctccatCtaccccaagctcaagttctg	6	15	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:60854321C>T	ENST00000313733.3	+	7	802	c.600C>T	c.(598-600)atC>atT	p.I200I	OSBPL2_ENST00000439951.2_Silent_p.I108I|OSBPL2_ENST00000358053.2_Silent_p.I188I	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	200					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGGCTCCATCTACCCCAAGC	0.567																																																	0													120	94	103					20																	60854321		2203	4300	6503	SO:0001819	synonymous_variant	9885			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.600C>T	20.37:g.60854321C>T			A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	pfam_Oxysterol-bd	p.I200	ENST00000313733.3	37	c.600	CCDS13495.1	20																																																																																			OSBPL2	-	pfam_Oxysterol-bd		0.567	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1	C	NM_014835		60854321	1	no_errors	ENST00000313733	ensembl	human	known	70_37	silent	SNP	1.000	T	T	60854321	C	T	60854321	2	4	118	1	0	0	0	0	0	0	0	1	11302	903	32	1		1	OSBPL2	20	60854321	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	3369900	60854321	2171199	171	19052										
PRPF6	57473	genome.wustl.edu	37	chr20	62632587	62632587	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgcaaagaagcgggttcttcGgaaaggtgagcctccctcgg	14	10	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:62632587G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.R394Q			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGGTTCTTCGGAAAGGTGAG	0.577																																																	0													85	74	77					20																	62632587		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-33279C>T	20.37:g.62632587G>A			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.R394Q	ENST00000450537.1	37	c.1181	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402767	0.83230	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.32988	1.43;1.43	5.52	4.56	0.56223	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.85945	2.785	0.80722	D	1	P;P	0.52061	0.95;0.681	B;B	0.42771	0.397;0.223	T	0.54016	-0.8356	10	0.54805	T	0.06	-27.068	14.7367	0.69422	0.0709:0.0:0.9291:0.0	.	394;394	O94906-2;O94906	.;PRP6_HUMAN	Q	394	ENSP00000266079:R394Q;ENSP00000446216:R394Q	ENSP00000266079:R394Q	R	+	2	0	PRPF6	62103031	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	7.505000	0.81655	2.598000	0.87819	0.655000	0.94253	CGG	PRPF6	-	smart_HAT		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	G	NM_020713		62632587	1	no_errors	ENST00000266079	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62632587	G	A	62632587	1	1	118	0	1	0	0	0	0	0	0	0	12601	1116	39	2		2	PRPF6	20	62632587	Intron	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	1778266	62632587	392933	172	19053										
TIAM1	7074	genome.wustl.edu	37	chr21	32638893	32638893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gcgtcatccccgtaaagcctGctctcctcagtgtctggcat	9	15	4	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:32638893G>A	ENST00000286827.3	-	5	867	c.396C>T	c.(394-396)agC>agT	p.S132S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.S132S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	132					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGTAAAGCCTGCTCTCCTCAG	0.547																																																	0													96	80	86					21																	32638893		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.396C>T	21.37:g.32638893G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S132	ENST00000286827.3	37	c.396	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32638893	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	0.997	A	A	32638893	G	A	32638893	2	1	118	1	0	0	0	0	0	0	0	1	15920	1310	46	4		4	TIAM1	21	32638893	Silent	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		32638893	15491002	173	19054										
DOPEY2	9980	genome.wustl.edu	37	chr21	37617534	37617534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cgctgcgaggcgagctgagcGaggaagagctgccctactac	15	12	0	2	rs146155717		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:37617534G>A	ENST00000399151.3	+	19	3341	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1086					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGAGCTGAGCGAGGAAGAGCT	0.637																																																	0								G	LYS/GLU	5,4401	9.9+/-24.2	0,5,2198	85	70	75		3256	5.4	0.8	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	DOPEY2	NM_005128.2	56	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	1086/2299	37617534	5,13001	2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3256G>A	21.37:g.37617534G>A	ENSP00000382104:p.Glu1086Lys		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.E1086K	ENST00000399151.3	37	c.3256	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451447	0.43531	0.001135	0.0	ENSG00000142197	ENST00000399151	T	0.26518	1.73	5.36	5.36	0.76844	.	0.495491	0.20754	N	0.086284	T	0.31358	0.0794	L	0.56769	1.78	0.50813	D	0.999894	D;D	0.57899	0.981;0.967	B;B	0.43018	0.405;0.229	T	0.06250	-1.0837	10	0.38643	T	0.18	.	18.447	0.90688	0.0:0.0:1.0:0.0	.	1086;1086	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1086	ENSP00000382104:E1086K	ENSP00000382104:E1086K	E	+	1	0	DOPEY2	36539404	1.000000	0.71417	0.781000	0.31783	0.023000	0.10783	7.647000	0.83462	2.671000	0.90904	0.650000	0.86243	GAG	DOPEY2	-	NULL		0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37617534	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.998	A	A	37617534	G	A	37617534	3	1	118	1	0	0	0	0	1	0	0	0	4718	1059	37	1	3326	1	DOPEY2	21	37617534	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	4978641	37617534	10512361	174	19055										
TTC3	7267	genome.wustl.edu	37	chr21	38519790	38519790	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ttttgttttagatgctgttaGagaaatttgttgaagaatgc	10	2	0	4			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:38519790G>C	ENST00000399017.2	+	22	4650	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	TTC3_ENST00000540756.1_Missense_Mutation_p.E325Q|TTC3_ENST00000355666.1_Missense_Mutation_p.E635Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E635Q|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	635					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATGCTGTTAGAGAAATTTGT	0.328																																					Ovarian(38;194 1649 35661)												0													97	95	96					21																	38519790		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1903G>C	21.37:g.38519790G>C	ENSP00000381981:p.Glu635Gln		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E635Q	ENST00000399017.2	37	c.1903	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.601779|3.601779	0.66445|0.66445	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749|ENST00000414818	T;T;T;T;T;T;T|.	0.51817|.	2.49;0.72;2.5;2.81;0.69;2.81;2.81|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.194658|.	0.35970|.	N|.	0.002863|.	T|.	0.44117|.	0.1278|.	L|L	0.27053|0.27053	0.805|0.805	0.36473|0.36473	D|D	0.867359|0.867359	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.80764|.	0.991;0.994|.	T|.	0.48258|.	-0.9051|.	10|.	0.46703|.	T|.	0.11|.	-17.502|-17.502	9.0836|9.0836	0.36567|0.36567	0.0826:0.1506:0.7668:0.0|0.0826:0.1506:0.7668:0.0	.|.	325;635|.	B4DSZ9;P53804|.	.;TTC3_HUMAN|.	Q|Y	635;635;617;635;325;635;635|32	ENSP00000403943:E635Q;ENSP00000408456:E635Q;ENSP00000391891:E617Q;ENSP00000347889:E635Q;ENSP00000442875:E325Q;ENSP00000381981:E635Q;ENSP00000346791:E635Q|.	ENSP00000346791:E635Q|.	E|X	+|+	1|3	0|2	TTC3|TTC3	37441660|37441660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.834000|2.834000	0.48167|0.48167	2.409000|2.409000	0.81822|0.81822	0.650000|0.650000	0.86243|0.86243	GAG|TAG	TTC3	-	NULL		0.328	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38519790	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38519790	G	C	38519790	3	2	118	1	0	0	0	0	1	0	0	0	16728	943	33	1	1985	1	TTC3	21	38519790	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	902256	38519790	9610105	175	19056										
ZNF295	49854	genome.wustl.edu	37	chr21	43411540	43411540	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgtgctggcctcgggtgcctCttcttcagcctcctccacag	10	16	3	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:43411540C>T	ENST00000310826.5	-	3	2848	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E889K|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E889K|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E688K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	889					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TCGGGTGCCTCTTCTTCAGCC	0.542																																																	0													61	66	65					21																	43411540		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2665G>A	21.37:g.43411540C>T	ENSP00000308759:p.Glu889Lys		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E889K	ENST00000310826.5	37	c.2665	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028746	0.35797	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07908	3.43;3.15;3.15;3.15	5.86	5.86	0.93980	.	0.154521	0.43110	D	0.000610	T	0.13756	0.0333	L	0.55481	1.735	0.48452	D	0.999651	P;B	0.41848	0.763;0.181	B;B	0.42361	0.385;0.101	T	0.05869	-1.0859	10	0.20519	T	0.43	-12.1249	20.1996	0.98256	0.0:1.0:0.0:0.0	.	688;889	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	K	688;889;889;889	ENSP00000381517:E688K;ENSP00000308759:E889K;ENSP00000381512:E889K;ENSP00000381523:E889K	ENSP00000308759:E889K	E	-	1	0	ZNF295	42284609	1.000000	0.71417	0.158000	0.22627	0.081000	0.17604	7.233000	0.78125	2.776000	0.95493	0.650000	0.86243	GAG	ZNF295	-	NULL		0.542	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43411540	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	0.947	T	T	43411540	C	T	43411540	3	4	118	1	0	0	0	0	1	0	0	0	17857	922	32	1	539	1	ZNF295	21	43411540	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	4891750	43411540	4718355	176	19057										
TRIOBP	11078	genome.wustl.edu	37	chr22	38119410	38119410	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	ccagagcctcctctccccatCgaatcacccaaagggacacc	6	19	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr22:38119410C>T	ENST00000406386.3	+	7	1102	c.847C>T	c.(847-849)Cga>Tga	p.R283*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	283					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCTCCCCATCGAATCACCCA	0.597																																																	0													99	116	110					22																	38119410		2055	4197	6252	SO:0001587	stop_gained	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.847C>T	22.37:g.38119410C>T	ENSP00000384312:p.Arg283*		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R283*	ENST00000406386.3	37	c.847	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425768	0.83667	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	3.83	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	6.2104	0.20626	0.2158:0.5753:0.209:0.0	.	.	.	.	X	283	.	ENSP00000384312:R283X	R	+	1	2	TRIOBP	36449356	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.627000	0.24506	0.264000	0.21851	0.456000	0.33151	CGA	TRIOBP	-	NULL		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	C			38119410	1	no_errors	ENST00000406386	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	38119410	C	T	38119410	4	4	118	1	0	0	0	0	0	1	0	0	16584	876	31	1	865	1	TRIOBP	22	38119410	Nonsense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09		38119410	13185156	177	19058										
STS	412	genome.wustl.edu	37	chrX	7177409	7177409	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gggaaatggcaccttgggatGagctgtcacagcaagactga	14	8	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:7177409G>C	ENST00000217961.4	+	5	637	c.417G>C	c.(415-417)atG>atC	p.M139I		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	139					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	ACCTTGGGATGAGCTGTCACA	0.468									Ichthyosis																																								0													147	121	130					X																	7177409		2203	4299	6502	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.417G>C	X.37:g.7177409G>C	ENSP00000217961:p.Met139Ile		B2RA47	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.M139I	ENST00000217961.4	37	c.417	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118410	0.06838	.	.	ENSG00000101846	ENST00000217961	D	0.98512	-4.97	3.83	-4.36	0.03645	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.825279	0.11103	N	0.599454	D	0.92583	0.7644	N	0.10945	0.07	0.09310	N	0.999997	B	0.02656	0.0	B	0.12837	0.008	D	0.83861	0.0268	10	0.39692	T	0.17	.	9.3171	0.37941	0.2627:0.1199:0.6173:0.0	.	139	P08842	STS_HUMAN	I	139	ENSP00000217961:M139I	ENSP00000217961:M139I	M	+	3	0	STS	7187409	0.864000	0.29904	0.000000	0.03702	0.324000	0.28378	0.095000	0.15127	-1.186000	0.02713	0.600000	0.82982	ATG	STS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.468	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	HGNC	protein_coding	OTTHUMT00000055686.1	G	NM_000351		7177409	1	no_errors	ENST00000217961	ensembl	human	known	70_37	missense	SNP	0.032	C	C	7177409	G	C	7177409	3	2	118	1	0	0	0	0	1	0	0	0	15362	1290	45	1	435	1	STS	23	7177409	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09		7177409	148093151	178	19059										
GPR64	10149	genome.wustl.edu	37	chrX	19046342	19046342	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	atcatattgaaacatgatctCacctctaaaaaatgctaaaa	3	8	3	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:19046342C>T	ENST00000379869.3	-	10	536	c.373G>A	c.(373-375)Gag>Aag	p.E125K	GPR64_ENST00000357544.3_Missense_Mutation_p.E95K|GPR64_ENST00000356606.4_Missense_Mutation_p.E111K|GPR64_ENST00000379878.3_Missense_Mutation_p.E109K|GPR64_ENST00000354791.3_Missense_Mutation_p.E109K|GPR64_ENST00000379876.1_Missense_Mutation_p.E101K|GPR64_ENST00000340581.3_Missense_Mutation_p.E95K|GPR64_ENST00000357991.3_Missense_Mutation_p.E122K|GPR64_ENST00000379873.2_Missense_Mutation_p.E125K|GPR64_ENST00000360279.4_Missense_Mutation_p.E103K	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	125					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AACATGATCTCACCTCTAAAA	0.254																																																	0													40	41	41					X																	19046342		2186	4247	6433	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.373G>A	X.37:g.19046342C>T	ENSP00000369198:p.Glu125Lys		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E125K	ENST00000379869.3	37	c.373	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804207	0.70682	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	T;T;T;T;T;T;T;T;T;T	0.38240	1.28;1.39;1.39;1.41;1.4;1.44;1.4;1.44;1.43;1.15	6.16	6.16	0.99307	.	0.000000	0.56097	D	0.000040	T	0.49626	0.1568	L	0.34521	1.04	0.38101	D	0.937259	D;B;B;B;B;P;B;B;B;B;B	0.69078	0.997;0.448;0.448;0.448;0.448;0.702;0.448;0.448;0.448;0.32;0.32	D;P;P;P;P;P;P;P;P;B;B	0.75020	0.985;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.348;0.348	T	0.54337	-0.8309	10	0.87932	D	0	.	14.9505	0.71071	0.0:1.0:0.0:0.0	.	95;87;95;101;109;125;103;111;122;125;109	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	K	125;109;109;101;95;125;103;122;111;95;48	ENSP00000369202:E125K;ENSP00000369207:E109K;ENSP00000346845:E109K;ENSP00000369205:E101K;ENSP00000350152:E95K;ENSP00000369198:E125K;ENSP00000353421:E103K;ENSP00000350680:E122K;ENSP00000349015:E111K;ENSP00000344972:E95K	ENSP00000344972:E95K	E	-	1	0	GPR64	18956263	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.549000	0.53681	2.614000	0.88457	0.594000	0.82650	GAG	GPR64	-	NULL		0.254	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19046342	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19046342	C	T	19046342	3	4	118	1	0	0	0	0	1	0	0	0	6724	835	29	1	2760	1	GPR64	23	19046342	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	11868933	19046342	136224218	179	19060										
DMD	1756	genome.wustl.edu	37	chrX	31462737	31462737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tcagaggcgcaatttctcctCgaagtgcctgtgtgcaatag	11	10	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:31462737C>T	ENST00000357033.4	-	60	9151	c.8945G>A	c.(8944-8946)cGa>cAa	p.R2982Q	DMD_ENST00000378707.3_Missense_Mutation_p.R522Q|DMD_ENST00000541735.1_Missense_Mutation_p.R522Q|DMD_ENST00000359836.1_Missense_Mutation_p.R522Q|DMD_ENST00000343523.2_Missense_Mutation_p.R522Q|DMD_ENST00000474231.1_Missense_Mutation_p.R522Q|DMD_ENST00000378677.2_Missense_Mutation_p.R2978Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2982					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATTTCTCCTCGAAGTGCCTG	0.463																																																	0													128	97	107					X																	31462737		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8945G>A	X.37:g.31462737C>T	ENSP00000354923:p.Arg2982Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.R2982Q	ENST00000357033.4	37	c.8945	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355824	0.41700	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.64	5.64	0.86602	.	0.000000	0.29021	U	0.013384	T	0.26521	0.0648	N	0.24115	0.695	0.37590	D	0.920168	P;B;B;B;B;B;B;B;B;B;B	0.37122	0.583;0.142;0.256;0.142;0.142;0.076;0.17;0.17;0.321;0.274;0.334	B;B;B;B;B;B;B;B;B;B;B	0.25987	0.064;0.011;0.04;0.016;0.016;0.021;0.053;0.065;0.018;0.011;0.056	T	0.23084	-1.0198	10	0.11794	T	0.64	.	10.9407	0.47273	0.0:0.9112:0.0:0.0888	.	2974;2982;2978;1641;1638;522;522;522;522;522;2859	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	Q	2974;1641;1638;678;2978;2982;522;522;2982;2859;522;522;522	ENSP00000350765:R678Q;ENSP00000367948:R2978Q;ENSP00000354923:R2982Q;ENSP00000352894:R522Q;ENSP00000340057:R522Q;ENSP00000367979:R522Q;ENSP00000444119:R522Q;ENSP00000417123:R522Q	ENSP00000340057:R522Q	R	-	2	0	DMD	31372658	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.930000	0.40124	2.360000	0.80028	0.594000	0.82650	CGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31462737	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31462737	C	T	31462737	3	4	118	1	0	0	0	0	1	0	0	0	4590	884	31	1	2306	1	DMD	23	31462737	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	12416395	31462737	123807823	180	19061										
MAGED2	10916	genome.wustl.edu	37	chrX	54841756	54841756	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cggatttgaaggctgcagctGaggctgcagctgaagccaag	15	9	0	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:54841756G>A	ENST00000375068.1	+	12	1695	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MAGED2_ENST00000375060.1_Missense_Mutation_p.E403K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E488K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E488K|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E403K|MAGED2_ENST00000347546.4_Missense_Mutation_p.E470K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E488K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488						membrane (GO:0016020)		p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											26	28	27					X																	54841756		2201	4291	6492	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1462G>A	X.37:g.54841756G>A	ENSP00000364209:p.Glu488Lys		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E488K	ENST00000375068.1	37	c.1462	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811880	0.32053	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.41400	4.04;4.04;4.12;4.05;1.0;4.04;4.04;1.0;4.04	4.2	4.2	0.49525	.	0.000000	0.46145	D	0.000301	T	0.35799	0.0944	N	0.19112	0.55	0.31633	N	0.648767	P;P	0.52170	0.913;0.951	P;P	0.49047	0.599;0.593	T	0.43245	-0.9403	10	0.48119	T	0.1	.	12.9346	0.58307	0.0:0.0:1.0:0.0	.	403;488	Q5H907;Q9UNF1	.;MAGD2_HUMAN	K	488;488;432;470;403;488;488;403;488	ENSP00000364209:E488K;ENSP00000364193:E488K;ENSP00000336962:E432K;ENSP00000340290:E470K;ENSP00000364202:E403K;ENSP00000218439:E488K;ENSP00000364198:E488K;ENSP00000364200:E403K;ENSP00000379526:E488K	ENSP00000218439:E488K	E	+	1	0	MAGED2	54858481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.693000	0.61753	2.098000	0.63641	0.513000	0.50165	GAG	MAGED2	-	NULL		0.557	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	G	NM_014599		54841756	1	no_errors	ENST00000218439	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54841756	G	A	54841756	3	1	118	1	0	0	0	0	1	0	0	0	9207	1291	45	1	1504	1	MAGED2	23	54841756	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	23379019	54841756	100428804	181	19062										
SPIN3	169981	genome.wustl.edu	37	chrX	57021369	57021369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	cctgcagctgcctttccaaaCggggtcttcatgcctgcgaa	10	14	2	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:57021369C>T	ENST00000374919.3	-	2	334	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	4				P -> A (in Ref. 1; BAH14098). {ECO:0000305}.	gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTTTCCAAACGGGGTCTTCA	0.522																																																	0													31	30	31					X																	57021369		2067	4168	6235	SO:0001819	synonymous_variant	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.12G>A	X.37:g.57021369C>T			B2RUW3|B7Z8W2|Q8N5D9	Silent	SNP	pfam_Spin_Ssty	p.P4	ENST00000374919.3	37	c.12	CCDS43963.1	X																																																																																			SPIN3	-	NULL		0.522	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN3	HGNC	protein_coding	OTTHUMT00000056908.1	C	XM_093024		57021369	-1	no_errors	ENST00000374919	ensembl	human	known	70_37	silent	SNP	0.006	T	T	57021369	C	T	57021369	2	4	118	1	0	0	0	0	0	0	0	1	15085	523	19	2		2	SPIN3	23	57021369	Silent	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2179613	57021369	98249191	182	19063										
AWAT1	158833	genome.wustl.edu	37	chrX	69458097	69458097	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gccagccagccatcaactatCtgctgagccatggcactggc	10	15	2	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:69458097C>G	ENST00000374521.3	+	5	537	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	166					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CATCAACTATCTGCTGAGCCA	0.527																																																	0													114	90	98					X																	69458097		2203	4300	6503	SO:0001583	missense	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.496C>G	X.37:g.69458097C>G	ENSP00000363645:p.Leu166Val		Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.L166V	ENST00000374521.3	37	c.496	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045483	0.36085	.	.	ENSG00000204195	ENST00000374521	T	0.12879	2.64	4.93	2.12	0.27331	.	0.252190	0.27609	N	0.018601	T	0.11665	0.0284	L	0.43701	1.375	0.38241	D	0.941338	P	0.47604	0.898	P	0.45167	0.472	T	0.30534	-0.9975	10	0.18276	T	0.48	-0.5067	6.4607	0.21954	0.4609:0.4522:0.0:0.0869	.	166	Q58HT5	AWAT1_HUMAN	V	166	ENSP00000363645:L166V	ENSP00000363645:L166V	L	+	1	2	AWAT1	69374822	0.999000	0.42202	0.989000	0.46669	0.333000	0.28666	0.518000	0.22847	0.112000	0.17975	0.600000	0.82982	CTG	AWAT1	-	pfam_DAGAT		0.527	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69458097	1	no_errors	ENST00000374521	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69458097	C	G	69458097	3	3	118	1	0	0	0	0	1	0	0	0	1235	912	32	1	514	1	AWAT1	23	69458097	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	12436728	69458097	85812463	183	19064										
RPS4X	6191	genome.wustl.edu	37	chrX	71495421	71495421	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tccagcagggtaggttatatCagttcggaccttgccatcga	11	10	1	0			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:71495421C>T	ENST00000316084.6	-	3	339	c.235G>A	c.(235-237)Gat>Aat	p.D79N	RPS4X_ENST00000373626.3_Missense_Mutation_p.D79N|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	79	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TAGGTTATATCAGTTCGGACC	0.418																																																	0													86	77	80					X																	71495421		2202	4300	6502	SO:0001583	missense	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"S ribosomal proteins"	10424	protein-coding gene	gene with protein product	"40S ribosomal protein S4, X isoform", "ribosomal protein S4X isoform", "single-copy abundant mRNA", "cell cycle gene 2"	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.235G>A	X.37:g.71495421C>T	ENSP00000362744:p.Asp79Asn		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.D79N	ENST00000316084.6	37	c.235	CCDS14418.1	X	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986418	0.93044	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.89	4.89	0.63831	RNA-binding S4 (3);	0.000000	0.64402	D	0.000001	T	0.61426	0.2346	M	0.75615	2.305	0.80722	D	1	P;B	0.48694	0.914;0.203	B;B	0.43445	0.42;0.176	T	0.69423	-0.5149	9	0.66056	D	0.02	.	14.7275	0.69354	0.0:1.0:0.0:0.0	.	79;79	B7Z1M6;P62701	.;RS4X_HUMAN	N	79	.	ENSP00000362744:D79N	D	-	1	0	RPS4X	71412146	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	7.443000	0.80521	2.147000	0.66899	0.600000	0.82982	GAT	RPS4X	-	pfam_S4_RNA-bd,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd		0.418	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	C	NM_001007		71495421	-1	no_errors	ENST00000316084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71495421	C	T	71495421	3	4	118	1	0	0	0	0	1	0	0	0	13675	826	29	1	576	1	RPS4X	23	71495421	Missense_Mutation	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2037324	71495421	83775139	184	19065										
CCDC160	347475	genome.wustl.edu	37	chrX	133378999	133378999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tgtccagtagaaagtttcagGaagaaagtaaatttaagagg	11	3	1	3			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:133378999G>A	ENST00000517294.1	+	3	552	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	57										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAAGTTTCAGGAAGAAAGTAA	0.313																																																	0													21	19	20					X																	133378999		1792	4050	5842	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.169G>A	X.37:g.133378999G>A	ENSP00000427951:p.Glu57Lys			Missense_Mutation	SNP	NULL	p.E57K	ENST00000517294.1	37	c.169	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101002	0.37048	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.16	4.29	0.51040	.	0.000000	0.53938	D	0.000054	T	0.41119	0.1145	L	0.32530	0.975	0.36241	D	0.853254	B	0.31413	0.322	B	0.31812	0.136	T	0.51865	-0.8651	9	0.87932	D	0	2.1892	9.2874	0.37766	0.1825:0.0:0.8175:0.0	.	57	A6NGH7	CC160_HUMAN	K	57	.	ENSP00000359845:E57K	E	+	1	0	CCDC160	133206665	1.000000	0.71417	0.307000	0.25127	0.023000	0.10783	2.080000	0.41586	1.065000	0.40693	0.594000	0.82650	GAA	CCDC160	-	NULL		0.313	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	G	NM_001101357		133378999	1	no_errors	ENST00000370809	ensembl	human	known	70_37	missense	SNP	0.955	A	A	133378999	G	A	133378999	3	1	118	1	0	0	0	0	1	0	0	0	2797	1175	41	1	171	1	CCDC160	23	133378999	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	61883578	133378999	21891561	185	19066										
GPR112	139378	genome.wustl.edu	37	chrX	135480160	135480160	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	tggtgacatacatagcttttCagtaagttgatacagccttg	9	7	1	2			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:135480160C>G	ENST00000394143.1	+	20	8596	c.8305C>G	c.(8305-8307)Cac>Gac	p.H2769D	GPR112_ENST00000287534.4_Splice_Site_p.H2522D|GPR112_ENST00000394141.1_Splice_Site_p.H2564D|GPR112_ENST00000370652.1_Splice_Site_p.H2769D|GPR112_ENST00000412101.1_Splice_Site_p.H2564D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2769				Missing (in Ref. 1; AAN46668). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATAGCTTTTCAGTAAGTTGA	0.378																																																	0													149	121	131					X																	135480160		2203	4300	6503	SO:0001630	splice_region_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8306+1C>G	X.37:g.135480160C>G			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.H2769D	ENST00000394143.1	37	c.8305	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853423	0.71719	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	6.17	4.36	0.52297	GPCR, family 2-like (1);	.	.	.	.	T	0.31040	0.0784	N	0.21448	0.665	0.23210	N	0.99811	P;B	0.43973	0.823;0.051	B;B	0.43754	0.43;0.115	T	0.14062	-1.0486	9	0.66056	D	0.02	.	5.6719	0.17728	0.1142:0.5534:0.2541:0.0783	.	2564;2769	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	D	2769;2769;2564;2522;2564	ENSP00000377699:H2769D;ENSP00000359686:H2769D;ENSP00000416526:H2564D;ENSP00000287534:H2522D;ENSP00000377697:H2564D	ENSP00000287534:H2522D	H	+	1	0	GPR112	135307826	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.106000	0.50322	1.359000	0.45940	0.600000	0.82982	CAC	GPR112	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C		Missense_Mutation	135480160	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135480160	C	G	135480160	5	3	118	1	0	0	0	0	0	0	1	0	6648	840	29	1	8371	1	GPR112	23	135480160	Splice_Site	SNP	C	TCGA-EK-A3GM-01A-11D-A20U-09	2101161	135480160	19790400	186	19067										
PLXNA3	55558	genome.wustl.edu	37	chrX	153698913	153698913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.462365591397849	86	2.20745669739602e-28	3.69917964098267	5.78810219316548	3.04743580470163	0.00183686578791086	0.0107985443289305	63	gagcaggcggaccagcgccaGatcagcgaccccgatgtgcg	15	14	1	1			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:153698913G>T	ENST00000369682.3	+	30	5290	c.5115G>T	c.(5113-5115)caG>caT	p.Q1705H	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1705					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGCGCCAGATCAGCGACC	0.632																																																	0													89	79	82					X																	153698913		2203	4299	6502	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5115G>T	X.37:g.153698913G>T	ENSP00000358696:p.Gln1705His		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.Q1705H	ENST00000369682.3	37	c.5115	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017191	0.75161	.	.	ENSG00000130827	ENST00000369682	T	0.16743	2.32	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.38838	1.175	0.52501	D	0.999957	D	0.54207	0.965	D	0.68353	0.957	T	0.01930	-1.1245	10	0.72032	D	0.01	.	10.2605	0.43423	0.0948:0.0:0.9052:0.0	.	1705	P51805	PLXA3_HUMAN	H	1705	ENSP00000358696:Q1705H	ENSP00000358696:Q1705H	Q	+	3	2	PLXNA3	153352107	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.918000	0.40006	2.156000	0.67533	0.529000	0.55759	CAG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153698913	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153698913	G	T	153698913	3	4	118	1	0	0	0	0	1	0	0	0	12145	933	33	3	5229	3	PLXNA3	23	153698913	Missense_Mutation	SNP	G	TCGA-EK-A3GM-01A-11D-A20U-09	18218753	153698913	1571647	187	19068										
EPB41	2035	genome.wustl.edu	37	chr1	29379717	29379717	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gcgtcctagatgcctctgctAaaaaaacagtggtccctaaa	8	11	1	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:29379717A>T	ENST00000343067.4	+	12	1865	c.1738A>T	c.(1738-1740)Aaa>Taa	p.K580*	EPB41_ENST00000373798.1_Nonsense_Mutation_p.K580*|EPB41_ENST00000349460.4_Nonsense_Mutation_p.K371*|EPB41_ENST00000347529.3_Nonsense_Mutation_p.K545*|EPB41_ENST00000373797.1_Nonsense_Mutation_p.K580*|EPB41_ENST00000398863.2_Nonsense_Mutation_p.K580*|EPB41_ENST00000373800.3_Nonsense_Mutation_p.K371*|EPB41_ENST00000356093.2_Nonsense_Mutation_p.K580*	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	580	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TGCCTCTGCTAAAAAAACAGT	0.542																																																	0													80	82	82					1																	29379717		2203	4300	6503	SO:0001587	stop_gained	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1738A>T	1.37:g.29379717A>T	ENSP00000345259:p.Lys580*		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Nonsense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.K580*	ENST00000343067.4	37	c.1738	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114726	0.77210	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	.	.	.	5.5	4.35	0.52113	.	6.762180	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	10.5406	0.45031	0.8377:0.1623:0.0:0.0	.	.	.	.	X	597;580;580;580;474;580;371;371;545;580;580	.	ENSP00000345259:K580X	K	+	1	0	EPB41	29252304	0.946000	0.32159	0.555000	0.28281	0.007000	0.05969	2.178000	0.42519	0.881000	0.35993	0.533000	0.62120	AAA	EPB41	-	pirsf_Band_41_protein		0.542	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	A	NM_203342		29379717	1	no_errors	ENST00000343067	ensembl	human	known	70_37	nonsense	SNP	0.796	T	T	29379717	A	T	29379717	4	4	119	1	0	0	0	0	0	1	0	0	5163	363	13	5	1780	5	EPB41	1	29379717	Nonsense_Mutation	SNP	A	TCGA-EK-A3GN-01A-11D-A20U-09		29379717	219870904	1	19069										
CYR61	3491	genome.wustl.edu	37	chr1	86048260	86048260	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gccttgtgaaagaaacccggAtttgtgaggtgcggccttgt	14	8	0	3			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:86048260A>T	ENST00000451137.2	+	4	1020	c.796A>T	c.(796-798)Att>Ttt	p.I266F		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	266	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGAAACCCGGATTTGTGAGGT	0.532											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	63	65					1																	86048260		2203	4300	6503	SO:0001583	missense	3491			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.796A>T	1.37:g.86048260A>T	ENSP00000398736:p.Ile266Phe	1241	O14934|O43775|Q9BZL7	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.I266F	ENST00000451137.2	37	c.796	CCDS706.1	1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890523	0.33348	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.55930	0.49	5.81	5.81	0.92471	.	0.089828	0.85682	D	0.000000	T	0.35068	0.0919	N	0.21097	0.63	0.80722	D	1	P	0.36837	0.571	B	0.42163	0.378	T	0.45440	-0.9261	10	0.87932	D	0	-21.2875	16.1699	0.81801	1.0:0.0:0.0:0.0	.	266	O00622	CYR61_HUMAN	F	266;242;266	ENSP00000398736:I266F	ENSP00000353612:I266F	I	+	1	0	CYR61	85820848	1.000000	0.71417	0.983000	0.44433	0.715000	0.41141	4.961000	0.63681	2.217000	0.71921	0.533000	0.62120	ATT	CYR61	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt		0.532	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYR61	HGNC	protein_coding	OTTHUMT00000029187.1	A	NM_001554		86048260	1	no_errors	ENST00000451137	ensembl	human	known	70_37	missense	SNP	0.994	T	T	86048260	A	T	86048260	3	4	119	1	0	0	0	0	1	0	0	0	4204	333	12	5	810	5	CYR61	1	86048260	Missense_Mutation	SNP	A	TCGA-EK-A3GN-01A-11D-A20U-09	56668543	86048260	163202361	2	19070										
CTSK	1513	genome.wustl.edu	37	chr1	150772083	150772083	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cacagagacaggtcccactcGggccactgccctcttcaggg	11	16	2	1	rs74315303		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:150772083G>A	ENST00000271651.3	-	6	831	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	241					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.R241*(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTCCCACTCGGGCCACTGCC	0.512																																																	1	Substitution - Nonsense(1)	endometrium(1)	GRCh37	CM960426	CTSK	M	rs74315303	G	stop/ARG	0,4406		0,0,2203	114	111	112	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	721	2.7	1	1	dbSNP_131	112	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CTSK	NM_000396.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/330	150772083	1,13005	2203	4300	6503	SO:0001587	stop_gained	1513			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.721C>T	1.37:g.150772083G>A	ENSP00000271651:p.Arg241*		Q6FHS6	Nonsense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.R241*	ENST00000271651.3	37	c.721	CCDS969.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678985	0.88542	0.0	1.16E-4	ENSG00000143387	ENST00000271651	.	.	.	5.93	2.74	0.32292	.	0.175567	0.48767	D	0.000168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	9.5881	0.39528	0.0753:0.0:0.661:0.2636	.	.	.	.	X	241	.	ENSP00000271651:R241X	R	-	1	2	CTSK	149038707	0.000000	0.05858	0.996000	0.52242	0.823000	0.46562	-0.443000	0.06862	0.845000	0.35118	-0.309000	0.09137	CGA	CTSK	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.512	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSK	HGNC	protein_coding	OTTHUMT00000084732.1	G	NM_000396		150772083	-1	no_errors	ENST00000271651	ensembl	human	known	70_37	nonsense	SNP	0.249	A	A	150772083	G	A	150772083	4	1	119	1	0	0	0	0	0	1	0	0	4042	1124	39	2	280	2	CTSK	1	150772083	Nonsense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	64723823	150772083	98478538	3	19071										
THBS3	7059	genome.wustl.edu	37	chr1	155166959	155166959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ggtgtggccagtatgccacaGggcatttcggaggtgctcac	15	10	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:155166959G>A	ENST00000368378.3	-	21	2565	c.2545C>T	c.(2545-2547)Ctg>Ttg	p.L849L	RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Silent_p.L378L|THBS3_ENST00000457183.2_Silent_p.L729L|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000541576.1_Silent_p.L246L|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	849	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTATGCCACAGGGCATTTCGG	0.577																																																	0													93	87	89					1																	155166959		2203	4300	6503	SO:0001819	synonymous_variant	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2545C>T	1.37:g.155166959G>A			B1AVR8|B4DQ20|Q8WV34	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.L849	ENST00000368378.3	37	c.2545	CCDS1099.1	1																																																																																			THBS3	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.577	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	G	NM_007112		155166959	-1	no_errors	ENST00000368378	ensembl	human	known	70_37	silent	SNP	0.999	A	A	155166959	G	A	155166959	2	1	119	1	0	0	0	0	0	0	0	1	15885	991	35	4		4	THBS3	1	155166959	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	4394876	155166959	94083662	4	19072										
CLK2	1196	genome.wustl.edu	37	chr1	155239279	155239279	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gggcctgggctggcactcacCgaagatgagcggctaaatgt	15	10	1	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:155239279C>T	ENST00000368361.4	-	3	714	c.399G>A	c.(397-399)tcG>tcA	p.S133S	CLK2_ENST00000355560.4_Splice_Site_p.S132S|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000536801.1_Splice_Site_p.S133S|CLK2_ENST00000361168.5_Splice_Site_p.S133S			P49760	CLK2_HUMAN	CDC-like kinase 2	133					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCACTCACCGAAGATGAGC	0.602								Other conserved DNA damage response genes																																									0													52	48	49					1																	155239279		2203	4300	6503	SO:0001630	splice_region_variant	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.399+1G>A	1.37:g.155239279C>T			B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S133	ENST00000368361.4	37	c.399		1																																																																																			CLK2	-	NULL		0.602	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993	Silent	155239279	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155239279	C	T	155239279	5	4	119	1	0	0	0	0	0	0	1	0	3542	666	23	2	1141	2	CLK2	1	155239279	Splice_Site	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	72320	155239279	94011342	5	19073										
PEAR1	375033	genome.wustl.edu	37	chr1	156875139	156875139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgtataccggaccgtgtaccGtcaggtggtgaagacggacc	14	10	1	2	rs367928332		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:156875139G>A	ENST00000338302.3	+	5	455	c.230G>A	c.(229-231)cGt>cAt	p.R77H	PEAR1_ENST00000292357.7_Missense_Mutation_p.R77H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	77	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGTGTACCGTCAGGTGGTG	0.657																																																	0								G	HIS/ARG	0,4406		0,0,2203	66	58	61		230	2	1	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEAR1	NM_001080471.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	77/1038	156875139	1,13005	2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.230G>A	1.37:g.156875139G>A	ENSP00000344465:p.Arg77His		Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R77H	ENST00000338302.3	37	c.230	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822319	0.50739	0.0	1.16E-4	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	D;T;D	0.90732	-2.72;0.54;-2.72	3.92	2.01	0.26516	EMI domain (1);	0.180201	0.27035	N	0.021250	T	0.71651	0.3365	L	0.36672	1.1	0.46954	D	0.999267	P	0.40050	0.7	B	0.26094	0.066	T	0.70920	-0.4741	10	0.87932	D	0	.	8.25	0.31712	0.2038:0.0:0.7962:0.0	.	77	Q5VY43	PEAR1_HUMAN	H	77	ENSP00000344465:R77H;ENSP00000389742:R77H;ENSP00000292357:R77H	ENSP00000292357:R77H	R	+	2	0	PEAR1	155141763	1.000000	0.71417	0.969000	0.41365	0.894000	0.52154	6.979000	0.76154	0.311000	0.23014	-0.150000	0.13652	CGT	PEAR1	-	superfamily_Growth_fac_rcpt,pfscan_EMI_domain		0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	G	NM_001080471		156875139	1	no_errors	ENST00000292357	ensembl	human	known	70_37	missense	SNP	0.990	A	A	156875139	G	A	156875139	3	1	119	1	0	0	0	0	1	0	0	0	11736	1145	40	2	240	2	PEAR1	1	156875139	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	1635860	156875139	92375482	6	19074										
XPR1	9213	genome.wustl.edu	37	chr1	180853188	180853188	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgatagaagacacagatgatGaagctaacacttgaattttc	8	6	0	7			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:180853188G>A	ENST00000367590.4	+	15	2275	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	XPR1_ENST00000367589.3_Missense_Mutation_p.E628K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	693					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CACAGATGATGAAGCTAACAC	0.408																																																	0													217	193	201					1																	180853188		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.2077G>A	1.37:g.180853188G>A	ENSP00000356562:p.Glu693Lys		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.E693K	ENST00000367590.4	37	c.2077	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892442	0.72524	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.46451	0.87	5.61	5.61	0.85477	.	0.049230	0.85682	D	0.000000	T	0.38746	0.1052	L	0.44542	1.39	0.43403	D	0.995537	P;P	0.46395	0.481;0.877	B;B	0.37731	0.158;0.257	T	0.39860	-0.9593	10	0.66056	D	0.02	-11.194	19.237	0.93864	0.0:0.0:1.0:0.0	.	628;693	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	693;628	ENSP00000356562:E693K	ENSP00000356561:E628K	E	+	1	0	XPR1	179119811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.976000	0.93442	2.640000	0.89533	0.655000	0.94253	GAA	XPR1	-	NULL		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	G	NM_004736		180853188	1	no_errors	ENST00000367590	ensembl	human	known	70_37	missense	SNP	1.000	A	A	180853188	G	A	180853188	3	1	119	1	0	0	0	0	1	0	0	0	17482	1291	45	1	2135	1	XPR1	1	180853188	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	23978049	180853188	68397433	7	19075										
TRIM11	81559	genome.wustl.edu	37	chr1	228588758	228588758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgctggcctaggtgggctgcGccctcccgcagccggggcag	17	15	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr1:228588758G>A	ENST00000284551.6	-	3	920	c.642C>T	c.(640-642)ggC>ggT	p.G214G	TRIM11_ENST00000366699.3_Silent_p.G214G|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Silent_p.G89G	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	214					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GGTGGGCTGCGCCCTCCCGCA	0.692																																																	0													17	20	19					1																	228588758		2203	4299	6502	SO:0001819	synonymous_variant	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.642C>T	1.37:g.228588758G>A			A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.G214	ENST00000284551.6	37	c.642	CCDS31048.1	1																																																																																			TRIM11	-	NULL		0.692	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	HGNC	protein_coding	OTTHUMT00000095995.3	G	NM_145214		228588758	-1	no_errors	ENST00000284551	ensembl	human	known	70_37	silent	SNP	0.000	A	A	228588758	G	A	228588758	2	1	119	1	0	0	0	0	0	0	0	1	16518	1074	38	2		2	TRIM11	1	228588758	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	47735570	228588758	20661863	8	19076										
C2orf71	388939	genome.wustl.edu	37	chr2	29294044	29294044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ctcacaggtgggctggggggCgtctgcacagcagaggggct	19	10	2	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr2:29294044C>T	ENST00000331664.5	-	1	3083	c.3084G>A	c.(3082-3084)acG>acA	p.T1028T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1028	Pro-rich.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGCTGGGGGGCGTCTGCACAG	0.672																																																	0													29	35	33					2																	29294044		1946	4119	6065	SO:0001819	synonymous_variant	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3084G>A	2.37:g.29294044C>T				Silent	SNP	NULL	p.T1028	ENST00000331664.5	37	c.3084	CCDS42669.1	2																																																																																			C2orf71	-	NULL		0.672	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	C	NM_001029883		29294044	-1	no_errors	ENST00000331664	ensembl	human	novel	70_37	silent	SNP	0.000	T	T	29294044	C	T	29294044	2	4	119	1	0	0	0	0	0	0	0	1	2196	755	27	2		2	C2orf71	2	29294044	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		29294044	213905329	9	19077										
MTIF2	4528	genome.wustl.edu	37	chr2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gttcttttctttctaaaaacCgtagaattgatctcttcttc	4	9	5	2	rs188291557		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr2:55470638C>T	ENST00000263629.4	-	12	1793	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	MTIF2_ENST00000403721.1_Missense_Mutation_p.R493Q|MTIF2_ENST00000394600.3_Missense_Mutation_p.R493Q	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTAAAAACCGTAGAATTGA	0.343																																																	0													149	149	149					2																	55470638		2203	4300	6503	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1478G>A	2.37:g.55470638C>T	ENSP00000263629:p.Arg493Gln		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom	p.R493Q	ENST00000263629.4	37	c.1478	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	C	2.104	-0.405266	0.04832	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823	T;T;T;T	0.58358	0.34;0.34;0.34;0.91	5.6	1.76	0.24704	.	0.574220	0.18261	N	0.146628	T	0.22360	0.0539	N	0.04018	-0.295	0.23215	N	0.998105	B	0.06786	0.001	B	0.06405	0.002	T	0.12837	-1.0532	10	0.19147	T	0.46	-1.5114	2.9042	0.05715	0.2013:0.0808:0.1004:0.6175	.	493	P46199	IF2M_HUMAN	Q	493;493;493;171	ENSP00000384481:R493Q;ENSP00000263629:R493Q;ENSP00000378099:R493Q;ENSP00000403492:R171Q	ENSP00000263629:R493Q	R	-	2	0	MTIF2	55324142	0.972000	0.33761	0.065000	0.19835	0.000000	0.00434	2.814000	0.48010	0.081000	0.16988	-2.404000	0.00223	CGG	MTIF2	-	NULL		0.343	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	C	NM_002453		55470638	-1	no_errors	ENST00000263629	ensembl	human	known	70_37	missense	SNP	0.678	T	T	55470638	C	T	55470638	3	4	119	1	0	0	0	0	1	0	0	0	9957	652	23	2	725	2	MTIF2	2	55470638	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	26176594	55470638	187728735	10	19078										
TTN	7273	genome.wustl.edu	37	chr2	179567367	179567367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	caccacgatgttctgtatgcGctttgtaaactgaattggtt	9	8	1	1	rs377714947		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr2:179567367G>A	ENST00000591111.1	-	105	29520	c.29296C>T	c.(29296-29298)Cgc>Tgc	p.R9766C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R10083C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8839C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13844	Ig-like 79.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R8839S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTATGCGCTTTGTAAAC	0.393													G|||	1	0.000199681	0	0	5008	,	,		19455	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						G	CYS/ARG,,,	1,3915		0,1,1957	115	109	111		26515,,,	5.8	1	2		111	0,8300		0,0,4150	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	180,,,	0,1,6107	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging,,,	8839/33424,,,	179567367	1,12215	1958	4150	6108	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29296C>T	2.37:g.179567367G>A	ENSP00000465570:p.Arg9766Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R8839C	ENST00000591111.1	37	c.26515		2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375072	0.42105	2.55E-4	0.0	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79370	0.4434	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.81182	-0.1049	9	0.87932	D	0	.	13.0931	0.59176	0.0:0.0:0.7352:0.2648	.	9766	Q8WZ42	TITIN_HUMAN	C	8839	ENSP00000343764:R8839C	ENSP00000343764:R8839C	R	-	1	0	TTN	179275612	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	5.000000	0.63940	2.764000	0.94973	0.655000	0.94253	CGC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179567367	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179567367	G	A	179567367	3	1	119	1	0	0	0	0	1	0	0	0	16766	1087	38	2	74306	2	TTN	2	179567367	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	124096729	179567367	63632006	11	19079										
GPR35	2859	genome.wustl.edu	37	chr2	241569402	241569402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tacaacacctgtggctccagCgacctcacctggcccccagc	8	19	1	0	rs548753085		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr2:241569402C>T	ENST00000319838.5	+	6	975	c.33C>T	c.(31-33)agC>agT	p.S11S	GPR35_ENST00000430267.1_Silent_p.S11S|GPR35_ENST00000407714.1_Silent_p.S11S|GPR35_ENST00000438013.2_Silent_p.S42S|GPR35_ENST00000403859.1_Silent_p.S11S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	11					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GTGGCTCCAGCGACCTCACCT	0.652													C|||	1	0.000199681	0	0.0014	5008	,	,		18052	0		0	False		,,,				2504	0																0													58	61	60					2																	241569402		2203	4300	6503	SO:0001819	synonymous_variant	2859				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.33C>T	2.37:g.241569402C>T			J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S42	ENST00000319838.5	37	c.126	CCDS2541.1	2																																																																																			GPR35	-	NULL		0.652	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPR35	HGNC	protein_coding	OTTHUMT00000325631.1	C	NM_001195382		241569402	1	no_errors	ENST00000438013	ensembl	human	known	70_37	silent	SNP	0.000	T	T	241569402	C	T	241569402	2	4	119	1	0	0	0	0	0	0	0	1	6709	767	27	2		2	GPR35	2	241569402	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	62002035	241569402	1629971	12	19080										
DLEC1	9940	genome.wustl.edu	37	chr3	38158718	38158718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ggtggaaagggagattccagGgaagaggcatcgcctgcagg	18	7	0	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr3:38158718G>T	ENST00000308059.6	+	31	4346	c.4325G>T	c.(4324-4326)gGg>gTg	p.G1442V	DLEC1_ENST00000452631.2_Missense_Mutation_p.G1445V|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1442V					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGATTCCAGGGAAGAGGCAT	0.607																																																	0													59	66	63					3																	38158718		2065	4211	6276	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4325G>T	3.37:g.38158718G>T	ENSP00000308597:p.Gly1442Val			Missense_Mutation	SNP	superfamily_PapD-like	p.G1442V	ENST00000308059.6	37	c.4325	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456375	0.63401	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.07908	3.2;3.15;3.42	5.07	4.2	0.49525	.	0.144057	0.45126	D	0.000383	T	0.28599	0.0708	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.996;0.996	T	0.02581	-1.1138	10	0.87932	D	0	-22.9092	12.4049	0.55434	0.084:0.0:0.916:0.0	.	1445;1442;1442;1442	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	V	1442;1442;1445	ENSP00000308597:G1442V;ENSP00000315914:G1442V;ENSP00000410427:G1445V	ENSP00000308597:G1442V	G	+	2	0	DLEC1	38133722	1.000000	0.71417	0.155000	0.22561	0.909000	0.53808	5.650000	0.67944	1.136000	0.42199	-0.136000	0.14681	GGG	DLEC1	-	NULL		0.607	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	G	NM_007337		38158718	1	no_errors	ENST00000346219	ensembl	human	known	70_37	missense	SNP	0.984	T	T	38158718	G	T	38158718	3	4	119	1	0	0	0	0	1	0	0	0	4562	1232	43	4	4447	4	DLEC1	3	38158718	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		38158718	159863712	13	19081										
QARS	5859	genome.wustl.edu	37	chr3	49137041	49137041	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tcccactgcacagggcaataGacgtccagtgcattgcaaag	10	12	0	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr3:49137041G>A	ENST00000306125.6	-	16	1765	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.V465V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	476					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CAGGGCAATAGACGTCCAGTG	0.557																																																	0													73	73	73					3																	49137041		2203	4300	6503	SO:0001819	synonymous_variant	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1428C>T	3.37:g.49137041G>A			B4DWJ2	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.V476	ENST00000306125.6	37	c.1428	CCDS2788.1	3																																																																																			QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib		0.557	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	G	NM_005051		49137041	-1	no_errors	ENST00000306125	ensembl	human	known	70_37	silent	SNP	0.779	A	A	49137041	G	A	49137041	2	1	119	1	0	0	0	0	0	0	0	1	12901	929	33	1		1	QARS	3	49137041	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	10978323	49137041	148885389	14	19082										
TRAIP	10293	genome.wustl.edu	37	chr3	49867119	49867119	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tggcctaggatggcattccgGacaaaaatagggaaggcacc	13	9	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr3:49867119G>A	ENST00000331456.2	-	13	1280	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	TRAIP_ENST00000469027.1_Silent_p.V234V	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	389	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCATTCCGGACAAAAATAG	0.592																																																	0													63	64	63					3																	49867119		2203	4300	6503	SO:0001819	synonymous_variant	10293			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1167C>T	3.37:g.49867119G>A			B5BU84|B5BUL3|O00467	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.V389	ENST00000331456.2	37	c.1167	CCDS2806.1	3																																																																																			TRAIP	-	NULL		0.592	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1	G	NM_005879		49867119	-1	no_errors	ENST00000331456	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49867119	G	A	49867119	2	1	119	1	0	0	0	0	0	0	0	1	16479	1161	41	1		1	TRAIP	3	49867119	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	730078	49867119	148155311	15	19083										
RBM6	10180	genome.wustl.edu	37	chr3	50005813	50005813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ggagagaagaatccacacatGaccatacgatagaaaggcct	10	9	0	4			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr3:50005813G>A	ENST00000266022.4	+	3	1214	c.955G>A	c.(955-957)Gac>Aac	p.D319N	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D187N|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	319					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATCCACACATGACCATACGAT	0.423																																																	0													74	68	70					3																	50005813		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.955G>A	3.37:g.50005813G>A	ENSP00000266022:p.Asp319Asn		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D319N	ENST00000266022.4	37	c.955	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	5.711	0.315713	0.10789	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.30714	1.52;1.54	6.04	6.04	0.98038	.	0.649667	0.15667	N	0.250587	T	0.19366	0.0465	N	0.19112	0.55	0.80722	D	1	P	0.35433	0.501	B	0.33042	0.157	T	0.05666	-1.0871	9	.	.	.	-17.5673	10.4186	0.44338	0.0682:0.0:0.798:0.1338	.	319	P78332	RBM6_HUMAN	N	319;187	ENSP00000266022:D319N;ENSP00000396466:D187N	.	D	+	1	0	RBM6	49980817	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.816000	0.55658	2.873000	0.98535	0.561000	0.74099	GAC	RBM6	-	NULL		0.423	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50005813	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50005813	G	A	50005813	3	1	119	1	0	0	0	0	1	0	0	0	13174	1290	45	1	961	1	RBM6	3	50005813	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	138694	50005813	148016617	16	19084										
DCBLD2	131566	genome.wustl.edu	37	chr3	98518644	98518644	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tttaaaggtagatctttgatGaagtgtaccaacaattcctc	7	7	1	3			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr3:98518644G>A	ENST00000326840.6	-	16	2262	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y	DCBLD2_ENST00000326857.9_Missense_Mutation_p.H648Y	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	634					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GATCTTTGATGAAGTGTACCA	0.398																																																	0													89	79	82					3																	98518644		1894	4129	6023	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1900C>T	3.37:g.98518644G>A	ENSP00000321573:p.His634Tyr		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.H648Y	ENST00000326840.6	37	c.1942	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749653	0.69533	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.31510	1.49;1.49	5.51	5.51	0.81932	.	0.190706	0.47455	D	0.000240	T	0.34687	0.0906	N	0.22421	0.69	0.42139	D	0.991507	B;D	0.59357	0.016;0.985	B;P	0.53006	0.009;0.715	T	0.13899	-1.0492	10	0.66056	D	0.02	-22.0623	16.913	0.86144	0.0:0.0:1.0:0.0	.	648;634	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	Y	634;648	ENSP00000321573:H634Y;ENSP00000321646:H648Y	ENSP00000321573:H634Y	H	-	1	0	DCBLD2	100001334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.354000	0.73036	2.581000	0.87130	0.655000	0.94253	CAT	DCBLD2	-	NULL		0.398	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	G	NM_080927		98518644	-1	no_errors	ENST00000326857	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98518644	G	A	98518644	3	1	119	1	0	0	0	0	1	0	0	0	4286	1290	45	1	431	1	DCBLD2	3	98518644	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	48512831	98518644	99503786	17	19085										
ATP13A4	84239	genome.wustl.edu	37	chr3	193210717	193210717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gcatggtacctaatctcctgTtcttctcttgtcaagcctga	7	12	4	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr3:193210717T>C	ENST00000342695.4	-	5	844	c.522A>G	c.(520-522)gaA>gaG	p.E174E	ATP13A4_ENST00000295548.3_Silent_p.E174E|ATP13A4_ENST00000392443.3_Silent_p.E174E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	174						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAATCTCCTGTTCTTCTCTTG	0.318																																																	0													154	150	151					3																	193210717		2203	4300	6503	SO:0001819	synonymous_variant	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.522A>G	3.37:g.193210717T>C			B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E174	ENST00000342695.4	37	c.522	CCDS3304.2	3																																																																																			ATP13A4	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp		0.318	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	T	NM_032279		193210717	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	silent	SNP	0.999	C	C	193210717	T	C	193210717	2	2	119	1	0	0	0	0	0	0	0	1	1127	1722	60	5		5	ATP13A4	3	193210717	Silent	SNP	T	TCGA-EK-A3GN-01A-11D-A20U-09	94692073	193210717	4811713	18	19086										
GAK	2580	genome.wustl.edu	37	chr4	870335	870335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tacttggcaaatttcacagtGgtggcgttccgaggcacaaa	11	9	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:870335G>A	ENST00000314167.4	-	18	2147	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	GAK_ENST00000511163.1_Silent_p.T600T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	679	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATTTCACAGTGGTGGCGTTCC	0.592																																																	0													159	131	140					4																	870335		2203	4300	6503	SO:0001819	synonymous_variant	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2037C>T	4.37:g.870335G>A			Q5U4P5|Q9BVY6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.T679	ENST00000314167.4	37	c.2037	CCDS3340.1	4																																																																																			GAK	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.592	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	G	NM_005255		870335	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	silent	SNP	0.743	A	A	870335	G	A	870335	2	1	119	1	0	0	0	0	0	0	0	1	6214	1335	47	4		4	GAK	4	870335	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		870335	190283941	19	19087										
HTT	3064	genome.wustl.edu	37	chr4	3122961	3122961	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ttctctgtttctaggtttatGaactgacgttacatcataca	6	8	3	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:3122961G>A	ENST00000355072.5	+	9	1220	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	359					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAGGTTTATGAACTGACGTT	0.438																																																	0													52	53	53					4																	3122961		1939	4149	6088	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1075G>A	4.37:g.3122961G>A	ENSP00000347184:p.Glu359Lys		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E359K	ENST00000355072.5	37	c.1075	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322102	0.81580	.	.	ENSG00000197386	ENST00000355072	T	0.67171	-0.25	4.82	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.78637	2.42	0.80722	D	1	P	0.37015	0.578	B	0.31442	0.13	T	0.74487	-0.3649	10	0.66056	D	0.02	.	17.5029	0.87737	0.0:0.0:1.0:0.0	.	359	P42858	HD_HUMAN	K	359	ENSP00000347184:E359K	ENSP00000347184:E359K	E	+	1	0	HTT	3092759	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	7.410000	0.80065	2.233000	0.73108	0.655000	0.94253	GAA	HTT	-	superfamily_ARM-type_fold		0.438	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3122961	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3122961	G	A	3122961	3	1	119	1	0	0	0	0	1	0	0	0	7477	1291	45	1	1109	1	HTT	4	3122961	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	2252626	3122961	188031315	20	19088										
EVC2	132884	genome.wustl.edu	37	chr4	5624288	5624288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	agatcaggtgctcccagcgtCgcagctctgcctgctcctct	10	16	3	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:5624288C>T	ENST00000344408.5	-	14	2530	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	EVC2_ENST00000310917.2_Missense_Mutation_p.R746Q|EVC2_ENST00000344938.1_Missense_Mutation_p.R826Q	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	826					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R826Q(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCCCAGCGTCGCAGCTCTGC	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											74	46	56					4																	5624288		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2477G>A	4.37:g.5624288C>T	ENSP00000342144:p.Arg826Gln		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.R826Q	ENST00000344408.5	37	c.2477	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395695	0.62177	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.90844	-2.72;-2.74;-2.73	5.44	5.44	0.79542	.	0.342390	0.34133	N	0.004237	D	0.94798	0.8320	M	0.65498	2.005	0.41571	D	0.988682	D	0.89917	1.0	D	0.87578	0.998	D	0.94949	0.8098	10	0.59425	D	0.04	-25.9408	18.2385	0.89958	0.0:1.0:0.0:0.0	.	826	Q86UK5	LBN_HUMAN	Q	826;746;826	ENSP00000339954:R826Q;ENSP00000311683:R746Q;ENSP00000342144:R826Q	ENSP00000311683:R746Q	R	-	2	0	EVC2	5675189	0.989000	0.36119	0.456000	0.27044	0.001000	0.01503	4.404000	0.59735	2.549000	0.85964	0.462000	0.41574	CGA	EVC2	-	NULL		0.622	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	C	NM_147127		5624288	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	missense	SNP	0.925	T	T	5624288	C	T	5624288	3	4	119	1	0	0	0	0	1	0	0	0	5298	884	31	1	1485	1	EVC2	4	5624288	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	2501327	5624288	185529988	21	19089										
DSPP	1834	genome.wustl.edu	37	chr4	88537225	88537225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gacagcagtgatagcagtgaCagcagcaacagcagtgacag	13	9	0	3	rs201608130|rs200679221		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:88537225C>A	ENST00000282478.7	+	4	3444	c.3411C>A	c.(3409-3411)gaC>gaA	p.D1137E	DSPP_ENST00000399271.1_Missense_Mutation_p.D1137E|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1137	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaaca	0.562																																																	0													23	34	31					4																	88537225		1394	2644	4038	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3411C>A	4.37:g.88537225C>A	ENSP00000282478:p.Asp1137Glu		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D1137E	ENST00000282478.7	37	c.3411	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	c	0.286	-0.983242	0.02180	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.8	-0.124	0.13523	.	1.128020	0.07042	N	0.830287	T	0.77638	0.4160	L	0.34521	1.04	0.09310	N	0.999993	B	0.24768	0.111	B	0.21708	0.036	T	0.62595	-0.6821	10	0.46703	T	0.11	-1.6689	2.3607	0.04307	0.2942:0.5173:0.0:0.1885	.	1137	Q9NZW4	DSPP_HUMAN	E	1137	ENSP00000382213:D1137E;ENSP00000282478:D1137E	ENSP00000282478:D1137E	D	+	3	2	DSPP	88756249	0.765000	0.28485	0.234000	0.24042	0.018000	0.09664	-0.576000	0.05854	-0.053000	0.13289	0.291000	0.19559	GAC	DSPP	-	NULL		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	C	NM_014208		88537225	1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.941	A	A	88537225	C	A	88537225	3	1	119	1	0	0	0	0	1	0	0	0	4792	477	17	4	3425	4	DSPP	4	88537225	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	82912937	88537225	102617051	22	19090										
TRPC3	7222	genome.wustl.edu	37	chr4	122828660	122828660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ccgagagaagctgagcacaaCagctatggcataaaggcctt	11	10	0	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:122828660C>G	ENST00000379645.3	-	7	1928	c.1855G>C	c.(1855-1857)Gtt>Ctt	p.V619L	TRPC3_ENST00000264811.5_Missense_Mutation_p.V546L|TRPC3_ENST00000513531.1_Missense_Mutation_p.V491L	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	534					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGAGCACAACAGCTATGGCA	0.438																																																	0													89	88	89					4																	122828660		2203	4299	6502	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1855G>C	4.37:g.122828660C>G	ENSP00000368966:p.Val619Leu		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V619L	ENST00000379645.3	37	c.1855	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939809	0.73557	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98437	-4.93;-4.93;-4.93	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98915	0.9632	M	0.84948	2.725	0.51233	D	0.999911	B;P;D	0.56287	0.417;0.786;0.975	B;P;D	0.67382	0.374;0.688;0.951	D	0.99490	1.0950	10	0.30078	T	0.28	-32.4163	18.9622	0.92681	0.0:1.0:0.0:0.0	.	534;491;619	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	L	546;619;491	ENSP00000264811:V546L;ENSP00000368966:V619L;ENSP00000426899:V491L	ENSP00000264811:V546L	V	-	1	0	TRPC3	123048110	1.000000	0.71417	0.077000	0.20336	0.990000	0.78478	6.005000	0.70716	2.465000	0.83290	0.655000	0.94253	GTT	TRPC3	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.438	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122828660	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	missense	SNP	0.993	G	G	122828660	C	G	122828660	3	3	119	1	0	0	0	0	1	0	0	0	16610	478	17	4	934	4	TRPC3	4	122828660	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	34291435	122828660	68325616	23	19091										
FBXW7	55294	genome.wustl.edu	37	chr4	153251907	153251907	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	aggagatttgagttctcctcGcctccagttagtatcaattc	8	10	2	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:153251907G>A	ENST00000281708.4	-	7	2328	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	367					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCTCCTCGCCTCCAGTTA	0.388			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	17	Substitution - Nonsense(16)|Unknown(1)	large_intestine(10)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|endometrium(1)											335	288	304					4																	153251907		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1099C>T	4.37:g.153251907G>A	ENSP00000281708:p.Arg367*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R367*	ENST00000281708.4	37	c.1099	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.344024	0.97489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.07	5.22	0.72569	.	0.052867	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.733	16.6928	0.85326	0.0:0.0:0.8693:0.1307	.	.	.	.	X	367;249;287;191	.	ENSP00000263981:R287X	R	-	1	2	FBXW7	153471357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.642000	0.46596	1.556000	0.49512	0.650000	0.86243	CGA	FBXW7	-	superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153251907	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	153251907	G	A	153251907	4	1	119	1	0	0	0	0	0	1	0	0	5787	1095	38	2	1048	2	FBXW7	4	153251907	Nonsense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	30423247	153251907	37902369	24	19092										
F11	2160	genome.wustl.edu	37	chr4	187201212	187201212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	agagtggattgcccagtacaCgcattaaaaagagcaaagct	10	8	0	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr4:187201212C>T	ENST00000403665.2	+	8	1154	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	F11_ENST00000264692.4_Missense_Mutation_p.R216C	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	268	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCCCAGTACACGCATTAAAAA	0.393																																																	0			GRCh37	CM035499	F11	M							80	80	80					4																	187201212		2203	4300	6503	SO:0001583	missense	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.802C>T	4.37:g.187201212C>T	ENSP00000384957:p.Arg268Cys		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A	p.R268C	ENST00000403665.2	37	c.802	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	C	9.073	0.997466	0.19043	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.90133	-2.62;-2.62	5.63	5.63	0.86233	Apple domain (3);PAN-1 domain (1);Apple-like (1);	0.578150	0.17984	N	0.155446	D	0.93969	0.8069	M	0.77313	2.365	0.09310	N	0.999997	D	0.89917	1.0	D	0.67103	0.949	D	0.87660	0.2534	10	0.37606	T	0.19	.	9.9347	0.41543	0.0:0.7877:0.1397:0.0726	.	268	P03951	FA11_HUMAN	C	268;216	ENSP00000384957:R268C;ENSP00000264692:R216C	ENSP00000264692:R216C	R	+	1	0	F11	187438206	0.001000	0.12720	0.383000	0.26132	0.181000	0.23173	0.865000	0.27940	2.829000	0.97493	0.644000	0.83932	CGC	F11	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple		0.393	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	HGNC	protein_coding	OTTHUMT00000317519.4	C			187201212	1	no_errors	ENST00000403665	ensembl	human	known	70_37	missense	SNP	0.075	T	T	187201212	C	T	187201212	3	4	119	1	0	0	0	0	1	0	0	0	5349	536	19	2	828	2	F11	4	187201212	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	33949305	187201212	3953064	25	19093										
SEMA5A	9037	genome.wustl.edu	37	chr5	9197373	9197373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gagaaggcctgcgcgatggcGctcaggttgaagacgcacac	15	11	1	3			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	325	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCGCGATGGCGCTCAGGTTGA	0.597																																																	0													80	80	80					5																	9197373		2203	4300	6503	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.975C>T	5.37:g.9197373G>A			D3DTC6|O60408|Q1RLL9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.S325	ENST00000382496.5	37	c.975	CCDS3875.1	5																																																																																			SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	G			9197373	-1	no_errors	ENST00000382496	ensembl	human	known	70_37	silent	SNP	0.763	A	A	9197373	G	A	9197373	2	1	119	1	0	0	0	0	0	0	0	1	14067	1078	38	2		2	SEMA5A	5	9197373	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		9197373	171717887	26	19094										
NIPBL	25836	genome.wustl.edu	37	chr5	36955658	36955658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgcacgaatagcagaagaggTgaactgccttttggcttgta	12	7	0	3			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr5:36955658T>C	ENST00000282516.8	+	3	648	c.149T>C	c.(148-150)gTg>gCg	p.V50A	NIPBL_ENST00000448238.2_Missense_Mutation_p.V50A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	50					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCAGAAGAGGTGAACTGCCTT	0.408																																																	0													138	126	130					5																	36955658		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.149T>C	5.37:g.36955658T>C	ENSP00000282516:p.Val50Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V50A	ENST00000282516.8	37	c.149	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794976	0.70452	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92249	-3.0;-3.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	L	0.27975	0.815	0.49687	D	0.99981	D;D	0.61697	0.984;0.99	D;D	0.73380	0.956;0.98	D	0.88366	0.2991	10	0.07990	T	0.79	.	15.5202	0.75859	0.0:0.0:0.0:1.0	.	50;50	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	50	ENSP00000282516:V50A;ENSP00000406266:V50A	ENSP00000282516:V50A	V	+	2	0	NIPBL	36991415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.075000	0.62263	0.477000	0.44152	GTG	NIPBL	-	NULL		0.408	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	T	NM_015384		36955658	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36955658	T	C	36955658	3	2	119	1	0	0	0	0	1	0	0	0	10452	1696	59	5	155	5	NIPBL	5	36955658	Missense_Mutation	SNP	T	TCGA-EK-A3GN-01A-11D-A20U-09	27758285	36955658	143959602	27	19095										
ISL1	3670	genome.wustl.edu	37	chr5	50683468	50683468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	atccctggggacgaatttgcGcttcgggaggacggtctctt	14	10	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr5:50683468G>A	ENST00000230658.7	+	3	948	c.363G>A	c.(361-363)gcG>gcA	p.A121A	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.A121A	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	121	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ACGAATTTGCGCTTCGGGAGG	0.637																																																	0													54	57	56					5																	50683468		2094	4209	6303	SO:0001819	synonymous_variant	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.363G>A	5.37:g.50683468G>A			P20663|P47894	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.A121	ENST00000230658.7	37	c.363	CCDS43314.1	5	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484882	0.26598	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.53	2.79	0.32731	.	0.058204	0.64402	N	0.000002	T	0.61527	0.2354	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59716	-0.7402	6	0.87932	D	0	.	5.8079	0.18450	0.2846:0.132:0.5834:0.0	.	.	.	.	T	68	.	ENSP00000421737:A68T	A	+	1	0	ISL1	50719225	0.823000	0.29233	1.000000	0.80357	0.976000	0.68499	-0.108000	0.10857	0.299000	0.22661	0.555000	0.69702	GCT	ISL1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.637	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	G	NM_002202		50683468	1	no_errors	ENST00000230658	ensembl	human	known	70_37	silent	SNP	0.997	A	A	50683468	G	A	50683468	2	1	119	1	0	0	0	0	0	0	0	1	7876	1074	38	2		2	ISL1	5	50683468	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	13727810	50683468	130231792	28	19096										
CMYA5	202333	genome.wustl.edu	37	chr5	79025497	79025497	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	aaagaggtttttccaccctgGagaggcgcactctccaaagg	11	11	1	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr5:79025497G>C	ENST00000446378.2	+	2	940	c.909G>C	c.(907-909)tgG>tgC	p.W303C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	303					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCCACCCTGGAGAGGCGCAC	0.413																																																	0													81	74	76					5																	79025497		1870	4109	5979	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.909G>C	5.37:g.79025497G>C	ENSP00000394770:p.Trp303Cys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.W303C	ENST00000446378.2	37	c.909	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346282	0.11126	.	.	ENSG00000164309	ENST00000446378	T	0.71461	-0.57	5.79	4.92	0.64577	.	0.147317	0.32287	N	0.006309	T	0.57961	0.2089	L	0.34521	1.04	0.44275	D	0.997136	B	0.34200	0.441	B	0.26094	0.066	T	0.61912	-0.6965	10	0.87932	D	0	.	12.8644	0.57932	0.0:0.1635:0.8365:0.0	.	303	Q8N3K9	CMYA5_HUMAN	C	303	ENSP00000394770:W303C	ENSP00000394770:W303C	W	+	3	0	CMYA5	79061253	0.680000	0.27605	0.973000	0.42090	0.159000	0.22180	0.965000	0.29319	1.422000	0.47177	-0.175000	0.13238	TGG	CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79025497	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.999	C	C	79025497	G	C	79025497	3	2	119	1	0	0	0	0	1	0	0	0	3595	1183	41	1	915	1	CMYA5	5	79025497	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	28342029	79025497	101889763	29	19097										
PCDHB14	56122	genome.wustl.edu	37	chr5	140605131	140605131	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ggcccaggcccaggccgactCcctcaccgtctacctggtgg	12	18	2	0	rs149493075	byFrequency	TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr5:140605131C>G	ENST00000239449.4	+	1	2054	c.2054C>G	c.(2053-2055)tCc>tGc	p.S685C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S532C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	685					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCGACTCCCTCACCGTC	0.706																																					Ovarian(141;50 1831 27899 33809 37648)												0													73	82	79					5																	140605131		2194	4285	6479	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2054C>G	5.37:g.140605131C>G	ENSP00000239449:p.Ser685Cys		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S685C	ENST00000239449.4	37	c.2054	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	12.67	2.007020	0.35415	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.54866	0.55;0.56	4.17	1.03	0.20045	.	.	.	.	.	T	0.61337	0.2339	M	0.89715	3.055	0.09310	N	1	D	0.55172	0.97	P	0.48089	0.566	T	0.55431	-0.8142	9	0.66056	D	0.02	.	5.1744	0.15127	0.1332:0.3937:0.3917:0.0815	.	685	Q9Y5E9	PCDBE_HUMAN	C	532;685	ENSP00000444518:S532C;ENSP00000239449:S685C	ENSP00000239449:S685C	S	+	2	0	PCDHB14	140585315	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.091000	0.15046	-0.042000	0.13535	0.650000	0.86243	TCC	PCDHB14	-	NULL		0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140605131	1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.000	G	G	140605131	C	G	140605131	3	3	119	1	0	0	0	0	1	0	0	0	11563	855	30	1	2056	1	PCDHB14	5	140605131	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	61579634	140605131	40310129	30	19098										
PCDHGA5	56110	genome.wustl.edu	37	chr5	140745349	140745349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gaccccgacagcggcgacaaCgctcgagtcacctactccct	9	18	1	0	rs369080489		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr5:140745349C>T	ENST00000518069.1	+	1	1452	c.1452C>T	c.(1450-1452)aaC>aaT	p.N484N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGACAACGCTCGAGTCA	0.537																																																	0								C	,,,,,,,	0,4104		0,0,2052	132	147	142		,,,,1452,,,1452	-10.4	0	5		142	3,8415		0,3,4206	no	intron,intron,intron,intron,coding-synonymous,intron,intron,coding-synonymous	PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_032054.1	,,,,,,,	0,3,6258	TT,TC,CC		0.0356,0.0,0.024	,,,,,,,	,,,,484/932,,,484/814	140745349	3,12519	2052	4209	6261	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1452C>T	5.37:g.140745349C>T			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N484	ENST00000518069.1	37	c.1452	CCDS54925.1	5																																																																																			PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	C	NM_018918		140745349	1	no_errors	ENST00000518069	ensembl	human	known	70_37	silent	SNP	0.076	T	T	140745349	C	T	140745349	2	4	119	1	0	0	0	0	0	0	0	1	11581	535	19	2		2	PCDHGA5	5	140745349	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	140218	140745349	40169911	31	19099										
GPLD1	2822	genome.wustl.edu	37	chr6	24447152	24447152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgaagggaatatccaaaccaGgagaagtcttcctcgcctct	9	11	2	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr6:24447152G>A	ENST00000230036.1	-	18	1844	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	578					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATCCAAACCAGGAGAAGTCTT	0.493																																																	0													126	111	116					6																	24447152		2203	4300	6503	SO:0001819	synonymous_variant	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1734C>T	6.37:g.24447152G>A			Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.S578	ENST00000230036.1	37	c.1734	CCDS4553.1	6																																																																																			GPLD1	-	smart_Int_alpha_beta-p		0.493	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	G	NM_001503		24447152	-1	no_errors	ENST00000230036	ensembl	human	known	70_37	silent	SNP	0.884	A	A	24447152	G	A	24447152	2	1	119	1	0	0	0	0	0	0	0	1	6633	987	35	4		4	GPLD1	6	24447152	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		24447152	146667915	32	19100										
HIST1H3J	8356	genome.wustl.edu	37	chr6	27858549	27858549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gccgccggtagacttgcgagCtgtctgcttcgtccgggcca	14	14	1	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr6:27858549C>A	ENST00000359303.2	-	1	21	c.22G>T	c.(22-24)Gct>Tct	p.A8S	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	8					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GACTTGCGAGCTGTCTGCTTC	0.572																																																	0													29	32	31					6																	27858549		2199	4291	6490	SO:0001583	missense	8356			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.22G>T	6.37:g.27858549C>A	ENSP00000352252:p.Ala8Ser		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.A8S	ENST00000359303.2	37	c.22	CCDS4638.1	6	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451421	0.26074	.	.	ENSG00000197153	ENST00000359303	T	0.48201	0.82	4.06	4.06	0.47325	.	.	.	.	.	T	0.56891	0.2016	.	.	.	0.46823	D	0.999211	.	.	.	.	.	.	T	0.62374	-0.6868	6	0.87932	D	0	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	S	8	ENSP00000352252:A8S	ENSP00000352252:A8S	A	-	1	0	HIST1H3J	27966528	1.000000	0.71417	0.163000	0.22734	0.137000	0.21094	7.296000	0.78790	2.560000	0.86352	0.655000	0.94253	GCT	HIST1H3J	-	superfamily_Histone-fold,prints_Histone_H3		0.572	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3J	HGNC	protein_coding	OTTHUMT00000043453.2	C	NM_003535		27858549	-1	no_errors	ENST00000359303	ensembl	human	known	70_37	missense	SNP	0.998	A	A	27858549	C	A	27858549	3	1	119	1	0	0	0	0	1	0	0	0	7184	797	28	4	392	4	HIST1H3J	6	27858549	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	3411397	27858549	143256518	33	19101										
PNPLA1	285848	genome.wustl.edu	37	chr6	36270034	36270034	+	Frame_Shift_Del	DEL	C	C	-													0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	acctggttcatcactgcccaCcccaccacctggactgtcac							TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr6:36270034delC	ENST00000394571.2	+	6	1172	c.1172delC	c.(1171-1173)accfs	p.T391fs	PNPLA1_ENST00000388715.3_Frame_Shift_Del_p.T296fs|PNPLA1_ENST00000312917.5_Frame_Shift_Del_p.T305fs	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	391	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCACTGCCCACCCCACCACCT	0.577											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													177	152	160					6																	36270034		2203	4300	6503	SO:0001589	frameshift_variant	285848				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1172delC	6.37:g.36270034delC	ENSP00000378072:p.Thr391fs	861	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Frame_Shift_Del	DEL	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.P393fs	ENST00000394571.2	37	c.1175	CCDS54997.1	6																																																																																			PNPLA1	-	NULL		0.577	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		C	NM_173676		36270034	1	no_errors	ENST00000457797	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	36270034	C	-	36270034	7	5	119	1	0	1	0	1	0	0	0	0	12188	507	18	0	1221	0	PNPLA1	6	36270034	Frame_Shift_Del	DEL	C	TCGA-EK-A3GN-01A-11D-A20U-09	8411485	36270034	134845033	34	19102										
VPS41	27072	genome.wustl.edu	37	chr7	38805239	38805239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ttcccagagtgctgcattttTcccaagaattttctggcatt	7	10	1	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr7:38805239T>C	ENST00000310301.4	-	16	1324	c.1270A>G	c.(1270-1272)Aaa>Gaa	p.K424E	VPS41_ENST00000395969.2_Missense_Mutation_p.K399E	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	424					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCTGCATTTTTCCCAAGAATT	0.323																																																	0													62	65	64					7																	38805239		2203	4298	6501	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1270A>G	7.37:g.38805239T>C	ENSP00000309457:p.Lys424Glu		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.K424E	ENST00000310301.4	37	c.1270	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400122	0.62177	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.17528	2.27;2.27	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.12944	0.0314	L	0.33485	1.01	0.80722	D	1	B;B;B	0.29188	0.236;0.236;0.236	B;B;B	0.24848	0.056;0.056;0.056	T	0.06499	-1.0823	10	0.09084	T	0.74	-28.91	15.5539	0.76177	0.0:0.0:0.0:1.0	.	424;399;424	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	E	424;399	ENSP00000309457:K424E;ENSP00000379297:K399E	ENSP00000309457:K424E	K	-	1	0	VPS41	38771764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.790000	0.85794	2.089000	0.63090	0.377000	0.23210	AAA	VPS41	-	pirsf_VPS41		0.323	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	T			38805239	-1	no_errors	ENST00000310301	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38805239	T	C	38805239	3	2	119	1	0	0	0	0	1	0	0	0	17241	1792	62	5	1350	5	VPS41	7	38805239	Missense_Mutation	SNP	T	TCGA-EK-A3GN-01A-11D-A20U-09		38805239	120333424	35	19103										
LMTK2	22853	genome.wustl.edu	37	chr7	97833404	97833404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	agcacggagcagagctggccGcactcggcgccttactcccg	13	16	0	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr7:97833404G>A	ENST00000297293.5	+	13	4682	c.4389G>A	c.(4387-4389)ccG>ccA	p.P1463P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1463				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGCTGGCCGCACTCGGCGC	0.597																																																	0													80	88	85					7																	97833404		2203	4300	6503	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4389G>A	7.37:g.97833404G>A			A4D272|Q75MG7|Q9UPS3	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P1463	ENST00000297293.5	37	c.4389	CCDS5654.1	7																																																																																			LMTK2	-	NULL		0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	G	NM_014916		97833404	1	no_errors	ENST00000297293	ensembl	human	known	70_37	silent	SNP	0.003	A	A	97833404	G	A	97833404	2	1	119	1	0	0	0	0	0	0	0	1	8880	1074	38	2		2	LMTK2	7	97833404	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	59028165	97833404	61305259	36	19104										
PLXNA4	91584	genome.wustl.edu	37	chr7	132192823	132192823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	acgtacgcgaacatgccatcCgcctcagagttcttggtcag	10	13	3	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr7:132192823C>T	ENST00000359827.3	-	2	1592	c.630G>A	c.(628-630)gcG>gcA	p.A210A	PLXNA4_ENST00000423507.2_Silent_p.A210A|PLXNA4_ENST00000378539.5_Silent_p.A210A|PLXNA4_ENST00000321063.4_Silent_p.A210A			Q9HCM2	PLXA4_HUMAN	plexin A4	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACATGCCATCCGCCTCAGAGT	0.517																																																	0													147	140	142					7																	132192823		2203	4300	6503	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.630G>A	7.37:g.132192823C>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A210	ENST00000359827.3	37	c.630	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.517	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	C	NM_181775		132192823	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	silent	SNP	0.000	T	T	132192823	C	T	132192823	2	4	119	1	0	0	0	0	0	0	0	1	12146	639	23	2		2	PLXNA4	7	132192823	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	34359419	132192823	26945840	37	19105										
DGKI	9162	genome.wustl.edu	37	chr7	137148328	137148328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgtcactcagcatgcgtttcCgcagggcaggattccaccag	11	13	2	0	rs141499171	byFrequency	TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr7:137148328C>T	ENST00000288490.5	-	28	2666	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q	DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.R871Q|DGKI_ENST00000424189.2_Missense_Mutation_p.R902Q	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	889					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATGCGTTTCCGCAGGGCAGG	0.507													C|||	4	0.000798722	0.003	0	5008	,	,		20198	0		0	False		,,,				2504	0																0								C	GLN/ARG	7,4399	12.9+/-30.5	1,5,2197	83	72	76		2666	5	0.9	7	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DGKI	NM_004717.2	43	1,6,6496	TT,TC,CC		0.0116,0.1589,0.0615	benign	889/1066	137148328	8,12998	2203	4300	6503	SO:0001583	missense	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2666G>A	7.37:g.137148328C>T	ENSP00000288490:p.Arg889Gln		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R892Q	ENST00000288490.5	37	c.2675	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872973	0.72180	0.001589	1.16E-4	ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.34667	1.35;1.54	5.91	5.03	0.67393	.	0.193404	0.37219	N	0.002195	T	0.17492	0.0420	N	0.08118	0	0.38498	D	0.94815	P	0.41546	0.754	B	0.27608	0.081	T	0.12682	-1.0538	10	0.54805	T	0.06	.	14.8654	0.70412	0.0:0.9316:0.0:0.0684	.	889	O75912	DGKI_HUMAN	Q	892;889;871	ENSP00000288490:R889Q;ENSP00000399131:R871Q	ENSP00000288490:R889Q	R	-	2	0	DGKI	136798868	1.000000	0.71417	0.886000	0.34754	0.976000	0.68499	3.577000	0.53885	1.521000	0.48983	0.655000	0.94253	CGG	DGKI	-	NULL		0.507	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	C	NM_004717		137148328	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	missense	SNP	0.999	T	T	137148328	C	T	137148328	3	4	119	1	0	0	0	0	1	0	0	0	4481	652	23	2	559	2	DGKI	7	137148328	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	4955505	137148328	21990335	38	19106										
MTMR7	9108	genome.wustl.edu	37	chr8	17188743	17188743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cttgatattggaataattgtCttcattctcatagcctttcc	5	9	3	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr8:17188743C>T	ENST00000180173.5	-	7	815	c.781G>A	c.(781-783)Gac>Aac	p.D261N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D261N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	261	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAATAATTGTCTTCATTCTCA	0.393																																																	0													199	170	180					8																	17188743		2203	4300	6503	SO:0001583	missense	9108			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.781G>A	8.37:g.17188743C>T	ENSP00000180173:p.Asp261Asn		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.D261N	ENST00000180173.5	37	c.781	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.235119	0.95207	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.90385	-2.66;-2.66	4.84	4.84	0.62591	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.92603	0.7650	L	0.48642	1.525	0.80722	D	1	D;B	0.54772	0.968;0.1	P;B	0.60789	0.879;0.224	D	0.90935	0.4793	10	0.31617	T	0.26	.	18.5404	0.91025	0.0:1.0:0.0:0.0	.	261;261	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	N	261	ENSP00000180173:D261N;ENSP00000429733:D261N	ENSP00000180173:D261N	D	-	1	0	MTMR7	17233114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.683000	0.91414	0.655000	0.94253	GAC	MTMR7	-	pfam_Myotub-related		0.393	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	C	NM_004686		17188743	-1	no_errors	ENST00000180173	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17188743	C	T	17188743	3	4	119	1	0	0	0	0	1	0	0	0	9971	913	32	1	1233	1	MTMR7	8	17188743	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		17188743	129175279	39	19107										
CHD7	55636	genome.wustl.edu	37	chr8	61693596	61693596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ctttctagagaaaccagtgcCggatatgactcaggttagtg	11	8	2	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr8:61693596C>T	ENST00000423902.2	+	3	2182	c.1703C>T	c.(1702-1704)cCg>cTg	p.P568L	CHD7_ENST00000524602.1_Missense_Mutation_p.P568L|CHD7_ENST00000525508.1_Missense_Mutation_p.P568L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	568	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAACCAGTGCCGGATATGACT	0.418																																																	1	Insertion - In frame(1)	lung(1)											46	45	45					8																	61693596		1897	4132	6029	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1703C>T	8.37:g.61693596C>T	ENSP00000392028:p.Pro568Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P568L	ENST00000423902.2	37	c.1703	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009246	0.93346	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.81996	-1.56;2.05;-1.2	5.23	5.23	0.72850	.	0.000000	0.45606	D	0.000348	T	0.77942	0.4206	L	0.34521	1.04	0.80722	D	1	D	0.53619	0.961	B	0.41332	0.354	T	0.82018	-0.0665	10	0.72032	D	0.01	-15.2638	19.1535	0.93499	0.0:1.0:0.0:0.0	.	568	Q9P2D1	CHD7_HUMAN	L	568	ENSP00000392028:P568L;ENSP00000437061:P568L;ENSP00000436027:P568L	ENSP00000307304:P568L	P	+	2	0	CHD7	61856150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.801000	0.62532	2.608000	0.88229	0.650000	0.86243	CCG	CHD7	-	NULL		0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61693596	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61693596	C	T	61693596	3	4	119	1	0	0	0	0	1	0	0	0	3335	652	23	2	1709	2	CHD7	8	61693596	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	44504853	61693596	84670426	40	19108										
CSMD3	114788	genome.wustl.edu	37	chr8	113317096	113317096	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gggagccattcacaattcgcCatcttccatgttccaagata	7	12	2	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr8:113317096C>T	ENST00000297405.5	-	52	8364	c.8120G>A	c.(8119-8121)tGg>tAg	p.W2707*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2637*|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2667*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2707	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAATTCGCCATCTTCCATG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													90	76	81					8																	113317096		2203	4300	6503	SO:0001587	stop_gained	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8120G>A	8.37:g.113317096C>T	ENSP00000297405:p.Trp2707*		Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.W2707*	ENST00000297405.5	37	c.8120	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	50	16.582174	0.99867	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.0673	0.93116	0.0:1.0:0.0:0.0	.	.	.	.	X	2667;2707;1977;2637	.	ENSP00000297405:W2707X	W	-	2	0	CSMD3	113386272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.547000	0.85894	0.655000	0.94253	TGG	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113317096	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	113317096	C	T	113317096	4	4	119	1	0	0	0	0	0	1	0	0	3951	595	21	4	3083	4	CSMD3	8	113317096	Nonsense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	51623500	113317096	33046926	41	19109										
FOXD4L5	653427	genome.wustl.edu	37	chr9	70176944	70176944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tggcagtagctccacgcggtCggggacaaactctgcgcagc	14	13	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr9:70176944C>T	ENST00000377420.1	-	1	1871	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	347					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						TCCACGCGGTCGGGGACAAAC	0.632																																																	0													0	1	1					9																	70176944		0	17	17	SO:0001583	missense	653427				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.1040G>A	9.37:g.70176944C>T	ENSP00000366637:p.Arg347Gln			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R347Q	ENST00000377420.1	37	c.1040	CCDS47977.1	9	.	.	.	.	.	.	.	.	.	.	c	10.98	1.504061	0.26949	.	.	ENSG00000204779	ENST00000377420	D	0.95980	-3.87	1.07	-2.14	0.07123	.	0.216748	0.22176	U	0.063565	D	0.87997	0.6319	L	0.34521	1.04	0.09310	N	1	B	0.30634	0.288	B	0.14578	0.011	T	0.77983	-0.2382	10	0.45353	T	0.12	.	6.6701	0.23064	0.0:0.5532:0.4468:0.0	.	347	Q5VV16	FX4L5_HUMAN	Q	347	ENSP00000366637:R347Q	ENSP00000366637:R347Q	R	-	2	0	FOXD4L5	69466764	0.000000	0.05858	0.049000	0.19019	0.395000	0.30598	-1.377000	0.02558	-0.737000	0.04824	0.074000	0.15403	CGA	FOXD4L5	-	NULL		0.632	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	C	NM_001126334		70176944	-1	no_errors	ENST00000377420	ensembl	human	known	70_37	missense	SNP	0.009	T	T	70176944	C	T	70176944	3	4	119	1	0	0	0	0	1	0	0	0	6020	884	31	1	214	1	FOXD4L5	9	70176944	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		70176944	71036487	42	19110										
PTCH1	5727	genome.wustl.edu	37	chr9	98211363	98211363	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tcacttacagtggagtgggcGaagacggggttttctgtggc	16	7	2	1	rs144312968		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr9:98211363G>A	ENST00000331920.6	-	22	4091	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	PTCH1_ENST00000437951.1_Silent_p.F1198F|PTCH1_ENST00000375274.2_Silent_p.F1263F|PTCH1_ENST00000418258.1_Silent_p.F1113F|PTCH1_ENST00000430669.2_Silent_p.F1198F|PTCH1_ENST00000421141.1_Silent_p.F1113F|PTCH1_ENST00000429896.2_Silent_p.F1113F	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1264					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGAGTGGGCGAAGACGGGGT	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		16570	0		0	False		,,,				2504	0																0								G	,,,,,,	3,4403	6.2+/-15.9	0,3,2200	32	34	33		3792,3594,3789,3339,3339,3339,3339	-4.6	0.9	9	dbSNP_134	33	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	,,,,,,	0,4,6498	AA,AG,GG		0.0116,0.0681,0.0308	,,,,,,	1264/1448,1198/1382,1263/1447,1113/1297,1113/1297,1113/1297,1113/1297	98211363	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3792C>T	9.37:g.98211363G>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.F1264	ENST00000331920.6	37	c.3792	CCDS6714.1	9																																																																																			PTCH1	-	NULL		0.652	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	G	NM_000264		98211363	-1	no_errors	ENST00000331920	ensembl	human	known	70_37	silent	SNP	0.950	A	A	98211363	G	A	98211363	2	1	119	1	0	0	0	0	0	0	0	1	12757	1049	37	1		1	PTCH1	9	98211363	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	28034419	98211363	43002068	43	19111										
COL15A1	1306	genome.wustl.edu	37	chr9	101832135	101832135	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cggctaattgtcctatgtatCgaaaacagtttcatgacaga	8	8	1	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr9:101832135C>T	ENST00000375001.3	+	42	4557	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1378	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.I1378I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTATGTATCGAAAACAGTT	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											89	79	82					9																	101832135		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4134C>T	9.37:g.101832135C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.I1378	ENST00000375001.3	37	c.4134	CCDS35081.1	9																																																																																			COL15A1	-	pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold		0.448	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101832135	1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.912	T	T	101832135	C	T	101832135	2	4	119	1	0	0	0	0	0	0	0	1	3677	874	31	1		1	COL15A1	9	101832135	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	3620772	101832135	39381296	44	19112										
OR1L4	254973	genome.wustl.edu	37	chr9	125487177	125487177	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gatatgaaaaggggtttgaaGaaattaagacacagaattta	10	2	0	5			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr9:125487177G>A	ENST00000259466.1	+	1	909	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K303K(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GGGGTTTGAAGAAATTAAGAC	0.398																																																	1	Substitution - coding silent(1)	breast(1)											46	46	46					9																	125487177		2203	4300	6503	SO:0001819	synonymous_variant	254973				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.909G>A	9.37:g.125487177G>A			Q6IFN0|Q96R81	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K303	ENST00000259466.1	37	c.909	CCDS35129.1	9																																																																																			OR1L4	-	NULL		0.398	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1	G			125487177	1	no_errors	ENST00000259466	ensembl	human	known	70_37	silent	SNP	0.089	A	A	125487177	G	A	125487177	2	1	119	1	0	0	0	0	0	0	0	1	10989	933	33	1		1	OR1L4	9	125487177	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	23655042	125487177	15726254	45	19113										
COL5A1	1289	genome.wustl.edu	37	chr9	137706730	137706730	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ccaaaggccctcccggagatGatggtcccaaaggcagccct	11	15	0	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr9:137706730G>A	ENST00000371817.3	+	50	4408	c.3994G>A	c.(3994-3996)Gat>Aat	p.D1332N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1332	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCCGGAGATGATGGTCCCAA	0.632																																																	0													25	21	23					9																	137706730		2048	3991	6039	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3994G>A	9.37:g.137706730G>A	ENSP00000360882:p.Asp1332Asn		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.D1332N	ENST00000371817.3	37	c.3994	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273659	0.80580	.	.	ENSG00000130635	ENST00000371817	D	0.93488	-3.23	4.59	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.94155	0.8125	N	0.25825	0.765	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.95173	0.8292	10	0.62326	D	0.03	.	17.7432	0.88412	0.0:0.0:1.0:0.0	.	1332	P20908	CO5A1_HUMAN	N	1332	ENSP00000360882:D1332N	ENSP00000360882:D1332N	D	+	1	0	COL5A1	136846551	1.000000	0.71417	0.989000	0.46669	0.914000	0.54420	9.652000	0.98499	2.242000	0.73789	0.643000	0.83706	GAT	COL5A1	-	NULL		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137706730	1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137706730	G	A	137706730	3	1	119	1	0	0	0	0	1	0	0	0	3701	1290	45	1	4192	1	COL5A1	9	137706730	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	12219553	137706730	3506701	46	19114										
EGFL7	51162	genome.wustl.edu	37	chr9	139564113	139564113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ggctggcccctgccaggcctCgctacgcgtgctgccccggc	14	19	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr9:139564113C>T	ENST00000371699.1	+	5	1164	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	EGFL7_ENST00000492002.1_3'UTR|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Missense_Mutation_p.R85C|EGFL7_ENST00000308874.7_Missense_Mutation_p.R85C|EGFL7_ENST00000371698.3_Missense_Mutation_p.R85C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	85	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGCCAGGCCTCGCTACGCGTG	0.697																																																	0													15	17	16					9																	139564113		2176	4290	6466	SO:0001583	missense	51162			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.253C>T	9.37:g.139564113C>T	ENSP00000360764:p.Arg85Cys		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	pfam_EMI_domain,pfam_EGF-like_Ca-bd,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain	p.R85C	ENST00000371699.1	37	c.253	CCDS7002.1	9	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714441	0.48622	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	4.06	4.06	0.47325	EMI domain (2);	0.851494	0.10529	N	0.664054	D	0.96200	0.8761	L	0.44542	1.39	0.42157	D	0.99158	D	0.76494	0.999	P	0.54815	0.761	D	0.94392	0.7615	10	0.45353	T	0.12	-36.6546	15.386	0.74703	0.0:1.0:0.0:0.0	.	85	Q9UHF1	EGFL7_HUMAN	C	85	ENSP00000360764:R85C;ENSP00000307843:R85C;ENSP00000385639:R85C;ENSP00000360763:R85C	ENSP00000307843:R85C	R	+	1	0	EGFL7	138683934	0.002000	0.14202	0.986000	0.45419	0.154000	0.21943	1.718000	0.38001	2.089000	0.63090	0.313000	0.20887	CGC	EGFL7	-	pfam_EMI_domain,pfscan_EMI_domain		0.697	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL7	HGNC	protein_coding	OTTHUMT00000055094.1	C	NM_016215		139564113	1	no_errors	ENST00000308874	ensembl	human	known	70_37	missense	SNP	0.674	T	T	139564113	C	T	139564113	3	4	119	1	0	0	0	0	1	0	0	0	4974	884	31	1	263	1	EGFL7	9	139564113	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	1857383	139564113	1649318	47	19115										
CDH23	64072	genome.wustl.edu	37	chr10	73569598	73569598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gagcatggacggcattctgcGcaccttcgacctcttcatgg	11	13	3	0	rs58875306		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr10:73569598G>T	ENST00000224721.6	+	60	8764	c.8759G>T	c.(8758-8760)cGc>cTc	p.R2920L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R675L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2915	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGCATTCTGCGCACCTTCGAC	0.637																																																	0													104	110	108					10																	73569598		2081	4205	6286	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8759G>T	10.37:g.73569598G>T	ENSP00000224721:p.Arg2920Leu		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R2918L	ENST00000224721.6	37	c.8753		10	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855187	0.71719	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60672	0.17	5.61	5.61	0.85477	Cadherin (2);Cadherin-like (1);	0.065480	0.64402	D	0.000017	T	0.50956	0.1646	M	0.62723	1.935	0.80722	D	1	P;P	0.42078	0.61;0.77	B;B	0.33196	0.12;0.159	T	0.54655	-0.8261	10	0.07990	T	0.79	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	2915;2915	E9PEX1;Q9H251	.;CAD23_HUMAN	L	2920;2915;2918;675	ENSP00000381768:R675L	ENSP00000224721:R2920L	R	+	2	0	CDH23	73239604	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.818000	0.99354	2.650000	0.89964	0.549000	0.68633	CGC	CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73569598	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73569598	G	T	73569598	3	4	119	1	0	0	0	0	1	0	0	0	3113	1087	38	2	9327	2	CDH23	10	73569598	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		73569598	61965149	48	19116										
CHST3	9469	genome.wustl.edu	37	chr10	73768164	73768164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gctacaaactggcgcgggacGccgccgccctcaccaaccgc	11	19	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr10:73768164G>T	ENST00000373115.4	+	3	1812	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	459					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GGCGCGGGACGCCGCCGCCCT	0.692																																																	0													13	12	12					10																	73768164		2166	4247	6413	SO:0001583	missense	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1375G>T	10.37:g.73768164G>T	ENSP00000362207:p.Ala459Ser		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.A459S	ENST00000373115.4	37	c.1375	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477729	0.26511	.	.	ENSG00000122863	ENST00000373115	D	0.96300	-3.97	5.27	4.3	0.51218	.	0.123056	0.56097	D	0.000039	D	0.92028	0.7474	L	0.33485	1.01	0.09310	N	1	B	0.25007	0.116	B	0.26517	0.07	T	0.82557	-0.0398	10	0.29301	T	0.29	-25.3119	10.2547	0.43390	0.0:0.2099:0.6692:0.1209	.	459	Q7LGC8	CHST3_HUMAN	S	459	ENSP00000362207:A459S	ENSP00000362207:A459S	A	+	1	0	CHST3	73438170	0.155000	0.22806	0.933000	0.37362	0.873000	0.50193	2.333000	0.43912	2.621000	0.88768	0.462000	0.41574	GCC	CHST3	-	pirsf_Carbohydrate_sulfotransferase		0.692	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	G	NM_004273		73768164	1	no_errors	ENST00000373115	ensembl	human	known	70_37	missense	SNP	0.031	T	T	73768164	G	T	73768164	3	4	119	1	0	0	0	0	1	0	0	0	3410	1087	38	2	1381	2	CHST3	10	73768164	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	198566	73768164	61766583	49	19117										
CYP26C1	340665	genome.wustl.edu	37	chr10	94828206	94828206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gcgcagcgcgcgaagattccCggggcgcctccagccgcttc	14	17	0	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr10:94828206C>T	ENST00000285949.5	+	6	1321	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	441					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CGAAGATTCCCGGGGCGCCTC	0.682																																																	0													12	15	14					10																	94828206		2075	4140	6215	SO:0001583	missense	340665				CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.1321C>T	10.37:g.94828206C>T	ENSP00000285949:p.Arg441Trp		Q5VXH6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.R441W	ENST00000285949.5	37	c.1321	CCDS7425.1	10	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699236	0.30142	.	.	ENSG00000187553	ENST00000285949	T	0.69306	-0.39	5.17	2.23	0.28157	.	0.490884	0.20477	N	0.091569	T	0.55940	0.1952	N	0.20574	0.59	0.09310	N	1	D	0.56035	0.974	P	0.51266	0.664	T	0.48246	-0.9052	10	0.62326	D	0.03	-0.4072	6.9332	0.24453	0.4359:0.4827:0.0:0.0815	.	441	Q6V0L0	CP26C_HUMAN	W	441	ENSP00000285949:R441W	ENSP00000285949:R441W	R	+	1	2	CYP26C1	94818196	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	0.226000	0.17776	0.557000	0.29117	-0.276000	0.10085	CGG	CYP26C1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.682	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26C1	HGNC	protein_coding	OTTHUMT00000049409.2	C	NM_183374		94828206	1	no_errors	ENST00000285949	ensembl	human	known	70_37	missense	SNP	0.000	T	T	94828206	C	T	94828206	3	4	119	1	0	0	0	0	1	0	0	0	4162	643	23	2	1343	2	CYP26C1	10	94828206	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	21060042	94828206	40706541	50	19118										
CRTAC1	55118	genome.wustl.edu	37	chr10	99770902	99770902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gggaggcacttaccccgccaCgacgatctcaaagtccccat	9	16	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr10:99770902C>T	ENST00000370597.3	-	2	572	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	CRTAC1_ENST00000298819.4_Missense_Mutation_p.V73M|CRTAC1_ENST00000370591.2_Missense_Mutation_p.V73M	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	73						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TACCCCGCCACGACGATCTCA	0.488																																																	0													122	102	109					10																	99770902		2203	4300	6503	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.217G>A	10.37:g.99770902C>T	ENSP00000359629:p.Val73Met		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.V73M	ENST00000370597.3	37	c.217	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813676	0.90790	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.17	6.17	0.99709	.	0.067577	0.64402	D	0.000011	T	0.61961	0.2389	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.60454	-0.7260	10	0.56958	D	0.05	-21.7419	20.8794	0.99867	0.0:1.0:0.0:0.0	.	73;73	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	M	73;73;65;73	ENSP00000359629:V73M;ENSP00000298819:V73M;ENSP00000310810:V65M;ENSP00000359623:V73M	ENSP00000298819:V73M	V	-	1	0	CRTAC1	99760892	1.000000	0.71417	0.974000	0.42286	0.996000	0.88848	7.170000	0.77587	2.941000	0.99782	0.655000	0.94253	GTG	CRTAC1	-	NULL		0.488	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	C	NM_018058		99770902	-1	no_errors	ENST00000370597	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99770902	C	T	99770902	3	4	119	1	0	0	0	0	1	0	0	0	3901	536	19	2	1824	2	CRTAC1	10	99770902	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	4942696	99770902	35763845	51	19119										
KNDC1	85442	genome.wustl.edu	37	chr10	135024981	135024981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tctacaggcggagcctctgcGtcctgcaggcctgggtggag	16	12	2	0	rs559717203		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr10:135024981G>A	ENST00000304613.3	+	22	3985	c.3964G>A	c.(3964-3966)Gtc>Atc	p.V1322I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V1324I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1322	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCTCTGCGTCCTGCAGGC	0.637													.|||	1	0.000199681	0	0	5008	,	,		12543	0		0	False		,,,				2504	0.001																0													73	73	73					10																	135024981		2203	4300	6503	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3964G>A	10.37:g.135024981G>A	ENSP00000304437:p.Val1322Ile		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V1324I	ENST00000304613.3	37	c.3970	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	4.122	0.020874	0.08006	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.34667	1.35;1.35	3.94	1.52	0.23074	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.272710	0.29172	U	0.012934	T	0.10895	0.0266	N	0.04959	-0.14	0.26818	N	0.968851	B	0.21147	0.052	B	0.14578	0.011	T	0.18335	-1.0340	10	0.06494	T	0.89	-21.4415	0.9097	0.01291	0.2035:0.3346:0.2924:0.1695	.	1322	Q76NI1	VKIND_HUMAN	I	1322;1324	ENSP00000304437:V1322I;ENSP00000357561:V1324I	ENSP00000304437:V1322I	V	+	1	0	KNDC1	134874971	0.954000	0.32549	0.992000	0.48379	0.706000	0.40770	0.347000	0.20014	0.780000	0.33566	0.297000	0.19635	GTC	KNDC1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.637	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	G	NM_152643		135024981	1	no_errors	ENST00000368572	ensembl	human	known	70_37	missense	SNP	0.993	A	A	135024981	G	A	135024981	3	1	119	1	0	0	0	0	1	0	0	0	8446	1145	40	2	4050	2	KNDC1	10	135024981	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	35254079	135024981	509766	52	19120										
CCDC86	79080	genome.wustl.edu	37	chr11	60610305	60610305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gaggagcttcctgtaatcccGaaggggaagcccaaatcggg	14	10	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr11:60610305G>A	ENST00000227520.5	+	1	762	c.708G>A	c.(706-708)ccG>ccA	p.P236P	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	236					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P236P(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CTGTAATCCCGAAGGGGAAGC	0.567																																																	1	Substitution - coding silent(1)	urinary_tract(1)											21	25	24					11																	60610305		2199	4299	6498	SO:0001819	synonymous_variant	79080			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.708G>A	11.37:g.60610305G>A			B4DY99	Silent	SNP	NULL	p.P236	ENST00000227520.5	37	c.708	CCDS7993.1	11																																																																																			CCDC86	-	NULL		0.567	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC86	HGNC	protein_coding	OTTHUMT00000395743.1	G	NM_024098		60610305	1	no_errors	ENST00000227520	ensembl	human	known	70_37	silent	SNP	0.012	A	A	60610305	G	A	60610305	2	1	119	1	0	0	0	0	0	0	0	1	2866	1045	37	1		1	CCDC86	11	60610305	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		60610305	74396211	53	19121										
MRPL21	219927	genome.wustl.edu	37	chr11	68671240	68671240	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ctgtggctgcacgcggacgcCagccgccctaaggtgaccgt	14	15	0	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr11:68671240C>A	ENST00000362034.2	-	1	48	c.39G>T	c.(37-39)ctG>ctT	p.L13L	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR|IGHMBP2_ENST00000539224.1_5'Flank|IGHMBP2_ENST00000255078.3_5'Flank	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	13					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGCGGACGCCAGCCGCCCTA	0.687																																																	0													56	65	62					11																	68671240		2199	4290	6489	SO:0001819	synonymous_variant	219927			AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"Mitochondrial ribosomal proteins / large subunits"	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.39G>T	11.37:g.68671240C>A			A6NKU0|C9JPR2	Silent	SNP	pfam_Ribosomal_L21,tigrfam_Ribosomal_L21	p.L13	ENST00000362034.2	37	c.39	CCDS8186.1	11																																																																																			MRPL21	-	NULL		0.687	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL21	HGNC	protein_coding	OTTHUMT00000396856.1	C	NM_181512		68671240	-1	no_errors	ENST00000362034	ensembl	human	known	70_37	silent	SNP	0.882	A	A	68671240	C	A	68671240	2	1	119	1	0	0	0	0	0	0	0	1	9810	581	21	4		4	MRPL21	11	68671240	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	8060935	68671240	66335276	54	19122										
CREBZF	58487	genome.wustl.edu	37	chr11	85375525	85375525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tatccgagcctccgccagacGaggagagaggccccggcgag	15	14	0	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr11:85375525G>A	ENST00000527447.1	-	1	621	c.395C>T	c.(394-396)tCg>tTg	p.S132L	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.S50L	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	132					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCCGCCAGACGAGGAGAGAGG	0.657																																					NSCLC(172;674 2044 9050 18334 41735)												0													33	38	37					11																	85375525		1926	4137	6063	SO:0001583	missense	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.395C>T	11.37:g.85375525G>A	ENSP00000433459:p.Ser132Leu		B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	pfam_bZIP	p.S132L	ENST00000527447.1	37	c.395	CCDS41697.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716540	0.89205	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.11	4.11	0.48088	.	0.250000	0.22322	N	0.061598	T	0.53481	0.1799	N	0.19112	0.55	0.35184	D	0.772761	D	0.69078	0.997	D	0.67725	0.953	T	0.59989	-0.7350	8	.	.	.	-40.6234	12.0439	0.53469	0.0:0.0:1.0:0.0	.	132	Q9NS37	ZHANG_HUMAN	L	50;132	.	.	S	-	2	0	CREBZF	85053173	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.712000	0.54875	2.289000	0.77006	0.561000	0.74099	TCG	CREBZF	-	NULL		0.657	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2	G	NM_001039618		85375525	-1	no_errors	ENST00000525639	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85375525	G	A	85375525	3	1	119	1	0	0	0	0	1	0	0	0	3868	1059	37	1	673	1	CREBZF	11	85375525	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	16704285	85375525	49630991	55	19123										
ORMDL2	29095	genome.wustl.edu	37	chr12	56213206	56213206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	aaggctcggctactgacacaCtgggagcaaatggactatgg	13	9	0	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr12:56213206C>T	ENST00000243045.5	+	3	450	c.255C>T	c.(253-255)caC>caT	p.H85H	ORMDL2_ENST00000548974.1_Silent_p.H85H|ORMDL2_ENST00000552672.1_Silent_p.H51H|ORMDL2_ENST00000550836.1_5'UTR|SARNP_ENST00000444631.2_5'Flank|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron|SARNP_ENST00000336133.3_5'Flank|SARNP_ENST00000552080.1_5'Flank	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	85					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						TACTGACACACTGGGAGCAAA	0.517																																																	0													220	189	200					12																	56213206		2203	4300	6503	SO:0001819	synonymous_variant	29095			AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"ORM1 (S. cerevisiae)-like 2", "ORM1-like 2 (S. cerevisiae)"			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.255C>T	12.37:g.56213206C>T			B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Silent	SNP	pfam_ORMDL,pirsf_ORMDL	p.H85	ENST00000243045.5	37	c.255	CCDS8893.1	12																																																																																			ORMDL2	-	pfam_ORMDL,pirsf_ORMDL		0.517	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORMDL2	HGNC	protein_coding	OTTHUMT00000407934.1	C	NM_014182		56213206	1	no_errors	ENST00000243045	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56213206	C	T	56213206	2	4	119	1	0	0	0	0	0	0	0	1	11294	564	20	4		4	ORMDL2	12	56213206	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		56213206	77638689	56	19124										
CDX2	1045	genome.wustl.edu	37	chr13	28542887	28542887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ccacggcgttggcggcggccGcggcgcctccgggcgcgtag	19	16	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr13:28542887G>A	ENST00000381020.7	-	1	2389	c.257C>T	c.(256-258)gCg>gTg	p.A86V	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	86	Poly-Ala.				anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ggcggcggccgcggcgcctcc	0.741			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0													11	17	15					13																	28542887		1703	3294	4997	SO:0001583	missense	1045			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.257C>T	13.37:g.28542887G>A	ENSP00000370408:p.Ala86Val		O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.A86V	ENST00000381020.7	37	c.257	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124556	0.37533	.	.	ENSG00000165556	ENST00000381020	T	0.46819	0.86	4.39	3.51	0.40186	Caudal-like activation domain (1);	0.925570	0.09034	N	0.858282	T	0.31451	0.0797	L	0.35854	1.095	0.09310	N	1	P	0.43938	0.822	B	0.30716	0.119	T	0.04723	-1.0931	10	0.19147	T	0.46	-14.6361	9.9847	0.41835	0.0:0.2062:0.7938:0.0	.	86	Q99626	CDX2_HUMAN	V	86	ENSP00000370408:A86V	ENSP00000370408:A86V	A	-	2	0	CDX2	27440887	0.949000	0.32298	0.214000	0.23707	0.447000	0.32167	2.970000	0.49240	1.005000	0.39183	0.407000	0.27541	GCG	CDX2	-	pfam_Caudal_activation_dom		0.741	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	G			28542887	-1	no_errors	ENST00000381020	ensembl	human	known	70_37	missense	SNP	0.075	A	A	28542887	G	A	28542887	3	1	119	1	0	0	0	0	1	0	0	0	3188	1087	38	2	696	2	CDX2	13	28542887	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		28542887	86626991	57	19125										
TEP1	7011	genome.wustl.edu	37	chr14	20841447	20841447	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	acctgcttccttaggaacctGccagagccgtacagaaccat	8	14	0	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr14:20841447G>A	ENST00000262715.5	-	47	6836	c.6796C>T	c.(6796-6798)Cag>Tag	p.Q2266*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.Q2158*|TEP1_ENST00000545983.1_Nonsense_Mutation_p.Q604*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2266					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTAGGAACCTGCCAGAGCCGT	0.562																																																	0													97	102	100					14																	20841447		2203	4300	6503	SO:0001587	stop_gained	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6796C>T	14.37:g.20841447G>A	ENSP00000262715:p.Gln2266*		A0AUV9	Nonsense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2266*	ENST00000262715.5	37	c.6796	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	44	10.562190	0.99428	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	.	.	.	5.06	4.1	0.47936	.	0.703990	0.13931	N	0.352913	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.6632	10.9571	0.47364	0.0:0.1894:0.8106:0.0	.	.	.	.	X	2266;2266;2158;604	.	ENSP00000262715:Q2266X	Q	-	1	0	TEP1	19911287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.849000	0.39318	2.508000	0.84585	0.655000	0.94253	CAG	TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.562	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	G	NM_007110		20841447	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	20841447	G	A	20841447	4	1	119	1	0	0	0	0	0	1	0	0	15789	1328	46	4	1123	4	TEP1	14	20841447	Nonsense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		20841447	86508093	58	19126										
TRIM9	114088	genome.wustl.edu	37	chr14	51467500	51467500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	caggacaacgtagcgctgttGttgtgggtacaacattcctc	11	10	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr14:51467500G>A	ENST00000298355.3	-	6	2486	c.1365C>T	c.(1363-1365)aaC>aaT	p.N455N	TRIM9_ENST00000338969.5_Silent_p.N451N|TRIM9_ENST00000360392.4_Silent_p.N455N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	455	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGCGCTGTTGTTGTGGGTAC	0.527																																																	0													157	138	145					14																	51467500		2203	4300	6503	SO:0001819	synonymous_variant	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1365C>T	14.37:g.51467500G>A			D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.N451	ENST00000298355.3	37	c.1353	CCDS9703.1	14																																																																																			TRIM9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51467500	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51467500	G	A	51467500	2	1	119	1	0	0	0	0	0	0	0	1	16580	1368	48	4		4	TRIM9	14	51467500	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	30626053	51467500	55882040	59	19127										
GJD2	57369	genome.wustl.edu	37	chr15	35045326	35045326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gaagactgtagagtagcggcGttctcgctgcttggcggact	15	9	1	2	rs202150693		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr15:35045326G>A	ENST00000290374.4	-	2	795	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	107					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.R107C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GAGTAGCGGCGTTCTCGCTGC	0.582																																																	1	Substitution - Missense(1)	pancreas(1)											83	84	83					15																	35045326		2201	4298	6499	SO:0001583	missense	57369			AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.319C>T	15.37:g.35045326G>A	ENSP00000290374:p.Arg107Cys		Q2M241|Q9P2R0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.R107C	ENST00000290374.4	37	c.319	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545828	0.65198	.	.	ENSG00000159248	ENST00000290374	D	0.99129	-5.46	4.9	4.9	0.64082	Connexin, N-terminal (1);	0.000000	0.53938	D	0.000059	D	0.98422	0.9475	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	P	0.54270	0.747	D	0.98061	1.0393	10	0.59425	D	0.04	.	13.5912	0.61961	0.0:0.0:0.8448:0.1552	.	107	Q9UKL4	CXD2_HUMAN	C	107	ENSP00000290374:R107C	ENSP00000290374:R107C	R	-	1	0	GJD2	32832618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.467000	0.53078	2.717000	0.92951	0.650000	0.86243	CGC	GJD2	-	pfam_Connexin_N		0.582	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2	G			35045326	-1	no_errors	ENST00000290374	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35045326	G	A	35045326	3	1	119	1	0	0	0	0	1	0	0	0	6436	1145	40	2	650	2	GJD2	15	35045326	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		35045326	67486066	60	19128										
VPS39	23339	genome.wustl.edu	37	chr15	42454321	42454321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	agaccttttccaggaagatgCgtatgtcattgatctgagtg	11	7	2	4	rs149062725		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr15:42454321C>T	ENST00000348544.4	-	24	2401	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	VPS39_ENST00000318006.5_Missense_Mutation_p.R790H			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	801					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGGAAGATGCGTATGTCATT	0.468																																																	0								C	HIS/ARG	0,4406		0,0,2203	161	147	152		2369	5.2	1	15	dbSNP_134	152	1,8597	1.2+/-3.3	0,1,4298	no	missense	VPS39	NM_015289.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	790/876	42454321	1,13003	2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2402G>A	15.37:g.42454321C>T	ENSP00000335193:p.Arg801His		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.R801H	ENST00000348544.4	37	c.2402	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711816	0.48517	0.0	1.16E-4	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.44482	0.92;0.93	5.21	5.21	0.72293	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.113873	0.64402	D	0.000008	T	0.26231	0.0640	N	0.22421	0.69	0.50632	D	0.99988	B;B	0.29909	0.261;0.065	B;B	0.23419	0.046;0.017	T	0.07616	-1.0763	10	0.15499	T	0.54	-16.0948	12.4737	0.55801	0.0:0.9232:0.0:0.0768	.	801;790	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	H	790;801	ENSP00000326534:R790H;ENSP00000335193:R801H	ENSP00000326534:R790H	R	-	2	0	VPS39	40241613	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.010000	0.49559	2.598000	0.87819	0.561000	0.74099	CGC	VPS39	-	pfam_VPS39/TGF_beta_rcpt-assoc_2		0.468	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	C	NM_015289		42454321	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42454321	C	T	42454321	3	4	119	1	0	0	0	0	1	0	0	0	17240	768	27	2	270	2	VPS39	15	42454321	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	7408995	42454321	60077071	61	19129										
FAM96A	84191	genome.wustl.edu	37	chr15	64385878	64385878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gctttctcttccatgatccgGggctgccgggcagctcccgg	13	15	1	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr15:64385878G>A	ENST00000300030.3	-	1	339	c.90C>T	c.(88-90)ccC>ccT	p.P30P	SNX1_ENST00000560829.1_5'Flank|SNX1_ENST00000353874.4_5'Flank|SNX1_ENST00000559844.1_5'Flank|FAM96A_ENST00000380290.3_Silent_p.P30P|SNX1_ENST00000561026.1_5'Flank|FAM96A_ENST00000557835.1_Silent_p.P30P|SNX1_ENST00000261889.5_5'Flank|FAM96A_ENST00000559950.1_Silent_p.P30P	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	30					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCATGATCCGGGGCTGCCGGG	0.602																																																	0													48	51	50					15																	64385878		2203	4300	6503	SO:0001819	synonymous_variant	84191				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.90C>T	15.37:g.64385878G>A			A6NKS1|B2R5F8|B7Z8Z5	Silent	SNP	pfam_DUF59	p.P30	ENST00000300030.3	37	c.90	CCDS10189.1	15																																																																																			FAM96A	-	NULL		0.602	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM96A	HGNC	protein_coding	OTTHUMT00000256520.1	G	NM_032231		64385878	-1	no_errors	ENST00000300030	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64385878	G	A	64385878	2	1	119	1	0	0	0	0	0	0	0	1	5672	1219	43	4		4	FAM96A	15	64385878	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	21931557	64385878	38145514	62	19130										
CACNA1H	8912	genome.wustl.edu	37	chr16	1246002	1246002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tgcgggtgctgcggcccctcCgcgccatcaaccgcgtgcct	13	18	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr16:1246002C>T	ENST00000348261.5	+	5	870	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R208C|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R208C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	208					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCGGCCCCTCCGCGCCATCAA	0.667																																																	0													48	58	55					16																	1246002		2033	4173	6206	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.622C>T	16.37:g.1246002C>T	ENSP00000334198:p.Arg208Cys		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R208C	ENST00000348261.5	37	c.622	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746066	0.49151	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98531	-4.98;-4.98	4.23	2.03	0.26663	Ion transport (1);	0.268553	0.30101	N	0.010414	D	0.99242	0.9736	H	0.98980	4.39	0.44918	D	0.997933	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.984	D	0.98235	1.0485	10	0.87932	D	0	.	8.3643	0.32378	0.292:0.5623:0.1457:0.0	.	208;208	O95180-2;O95180	.;CAC1H_HUMAN	C	208	ENSP00000334198:R208C;ENSP00000351401:R208C	ENSP00000334198:R208C	R	+	1	0	CACNA1H	1186003	0.115000	0.22152	0.739000	0.30968	0.012000	0.07955	0.479000	0.22228	0.866000	0.35629	0.478000	0.44815	CGC	CACNA1H	-	pfam_Ion_trans_dom		0.667	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1246002	1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1246002	C	T	1246002	3	4	119	1	0	0	0	0	1	0	0	0	2550	652	23	2	636	2	CACNA1H	16	1246002	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		1246002	89108751	63	19131										
IRX5	10265	genome.wustl.edu	37	chr16	54967571	54967571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gcccttctatcccggctacaCgaactatggctccttcggac	8	16	1	0	rs568146590	byFrequency	TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr16:54967571C>T	ENST00000394636.4	+	3	1575	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	IRX5_ENST00000320990.5_Missense_Mutation_p.T412M|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Missense_Mutation_p.T347M|IRX5_ENST00000560154.1_Missense_Mutation_p.T193M			P78411	IRX5_HUMAN	iroquois homeobox 5	413					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.T413M(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCGGCTACACGAACTATGGC	0.657																																																	1	Substitution - Missense(1)	large_intestine(1)											25	31	29					16																	54967571		2196	4291	6487	SO:0001583	missense	10265			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1238C>T	16.37:g.54967571C>T	ENSP00000378132:p.Thr413Met		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.T413M	ENST00000394636.4	37	c.1238	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121274	0.56613	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.52295	0.67;0.67	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.67507	-0.5653	10	0.87932	D	0	-17.8814	17.4716	0.87647	0.0:1.0:0.0:0.0	.	413	P78411	IRX5_HUMAN	M	413;412	ENSP00000378132:T413M;ENSP00000316250:T412M	ENSP00000316250:T412M	T	+	2	0	IRX5	53525072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.207000	0.77899	2.340000	0.79590	0.650000	0.86243	ACG	IRX5	-	NULL		0.657	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	C			54967571	1	no_errors	ENST00000394636	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54967571	C	T	54967571	3	4	119	1	0	0	0	0	1	0	0	0	7867	536	19	2	1248	2	IRX5	16	54967571	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	53721569	54967571	35387182	64	19132										
CDH11	1009	genome.wustl.edu	37	chr16	65006813	65006813	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	aggagaatacttacggatttCtgctgcaaagacagtgatgt	11	6	1	3			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr16:65006813C>T	ENST00000268603.4	-	9	1999	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CDH11_ENST00000394156.3_Missense_Mutation_p.E462K|CDH11_ENST00000566827.1_Missense_Mutation_p.E336K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	462	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTACGGATTTCTGCTGCAAAG	0.363			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													125	127	126					16																	65006813		2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1384G>A	16.37:g.65006813C>T	ENSP00000268603:p.Glu462Lys		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E462K	ENST00000268603.4	37	c.1384	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930738	0.92389	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.52295	0.67;0.67	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.69142	0.962;0.949	T	0.76252	-0.3027	10	0.51188	T	0.08	.	18.2557	0.90019	0.0:1.0:0.0:0.0	.	462;462	P55287-2;P55287	.;CAD11_HUMAN	K	462;462;445	ENSP00000268603:E462K;ENSP00000377711:E462K	ENSP00000268603:E462K	E	-	1	0	CDH11	63564314	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.468000	0.80943	2.573000	0.86826	0.655000	0.94253	GAA	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.363	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	C	NM_033664		65006813	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65006813	C	T	65006813	3	4	119	1	0	0	0	0	1	0	0	0	3102	922	32	1	1026	1	CDH11	16	65006813	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	10039242	65006813	25347940	65	19133										
PHLPP2	23035	genome.wustl.edu	37	chr16	71697826	71697826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	caggaaaggtctgtaactgaTtgtttgcaaggtgcaagatt	12	5	1	2			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr16:71697826T>C	ENST00000568954.1	-	13	2339	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S	PHLPP2_ENST00000356272.3_Missense_Mutation_p.N654S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.N689S|RP11-432I5.6_ENST00000567077.1_RNA|RNU6-208P_ENST00000362431.1_RNA|PHLPP2_ENST00000393524.2_Intron|PHLPP2_ENST00000360429.3_Missense_Mutation_p.N654S|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	654					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGTAACTGATTGTTTGCAAG	0.408																																																	0													96	91	93					16																	71697826		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1961A>G	16.37:g.71697826T>C	ENSP00000457991:p.Asn654Ser		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.N654S	ENST00000568954.1	37	c.1961	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806009	0.90623	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272	T;T	0.72615	-0.67;-0.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.88351	0.6413	H	0.94542	3.55	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.91401	0.5143	10	0.72032	D	0.01	-21.381	15.086	0.72155	0.0:0.0:0.0:1.0	.	654	Q6ZVD8	PHLP2_HUMAN	S	461;654;654	ENSP00000353610:N654S;ENSP00000348611:N654S	ENSP00000299971:N461S	N	-	2	0	PHLPP2	70255327	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.825000	0.86693	2.149000	0.67028	0.377000	0.23210	AAT	PHLPP2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.408	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	T	NM_015020		71697826	-1	no_errors	ENST00000356272	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71697826	T	C	71697826	3	2	119	1	0	0	0	0	1	0	0	0	11879	1493	52	5	2038	5	PHLPP2	16	71697826	Missense_Mutation	SNP	T	TCGA-EK-A3GN-01A-11D-A20U-09	6691013	71697826	18656927	66	19134										
SRCIN1	80725	genome.wustl.edu	37	chr17	36719744	36719744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cgagtctcctccccgaactgCaggaacagcacccctgcgaa	9	17	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr17:36719744C>T	ENST00000264659.7	-	5	779	c.555G>A	c.(553-555)ctG>ctA	p.L185L	SRCIN1_ENST00000578925.1_Silent_p.L219L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	57					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCCCGAACTGCAGGAACAGCA	0.672																																																	0													28	32	30					17																	36719744		2107	4133	6240	SO:0001819	synonymous_variant	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.555G>A	17.37:g.36719744C>T			Q75T46|Q8N4W8	Silent	SNP	pfam_AIP3_C	p.L185	ENST00000264659.7	37	c.555	CCDS45660.1	17																																																																																			SRCIN1	-	pfam_AIP3_C		0.672	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	C	NM_025248		36719744	-1	no_errors	ENST00000264659	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36719744	C	T	36719744	2	4	119	1	0	0	0	0	0	0	0	1	15166	697	25	4		4	SRCIN1	17	36719744	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		36719744	44475466	67	19135										
ERN1	2081	genome.wustl.edu	37	chr17	62149426	62149426	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gtctgctgcttctctccggtCaggaggtcaataacatacca	9	12	4	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr17:62149426C>T	ENST00000433197.3	-	6	488	c.393G>A	c.(391-393)ctG>ctA	p.L131L	ERN1_ENST00000577567.1_5'UTR	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCTCTCCGGTCAGGAGGTCAA	0.448																																																	0													53	51	52					17																	62149426		1915	4140	6055	SO:0001819	synonymous_variant	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.393G>A	17.37:g.62149426C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.L131	ENST00000433197.3	37	c.393	CCDS45762.1	17																																																																																			ERN1	-	superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat		0.448	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	C	NM_001433		62149426	-1	no_errors	ENST00000433197	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62149426	C	T	62149426	2	4	119	1	0	0	0	0	0	0	0	1	5249	813	29	1		1	ERN1	17	62149426	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	25429682	62149426	19045784	68	19136										
ERN1	2081	genome.wustl.edu	37	chr17	62152586	62152586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tggggatgcctgcaccaattCtgggatggtaaaaggaagtt	14	6	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr17:62152586C>T	ENST00000433197.3	-	5	399	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ERN1_ENST00000577567.1_5'UTR	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCACCAATTCTGGGATGGTA	0.373																																																	0													19	18	18					17																	62152586		1643	3585	5228	SO:0001583	missense	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.304G>A	17.37:g.62152586C>T	ENSP00000401445:p.Glu102Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.E102K	ENST00000433197.3	37	c.304	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.491616	0.96339	.	.	ENSG00000178607	ENST00000433197	T	0.20200	2.09	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.46992	-0.9151	10	0.39692	T	0.17	-32.9915	20.1991	0.98252	0.0:1.0:0.0:0.0	.	102	O75460	ERN1_HUMAN	K	102	ENSP00000401445:E102K	ENSP00000401445:E102K	E	-	1	0	ERN1	59506318	1.000000	0.71417	0.894000	0.35097	0.937000	0.57800	7.487000	0.81328	2.775000	0.95449	0.650000	0.86243	GAA	ERN1	-	superfamily_Quinonprotein_ADH-like		0.373	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	C	NM_001433		62152586	-1	no_errors	ENST00000433197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62152586	C	T	62152586	3	4	119	1	0	0	0	0	1	0	0	0	5249	922	32	1	2701	1	ERN1	17	62152586	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	3160	62152586	19042624	69	19137										
LAMA3	3909	genome.wustl.edu	37	chr18	21453031	21453031	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gcctccagcagtgaggcggtCagcctgcagcatgggatggc	16	12	1	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr18:21453031C>T	ENST00000313654.9	+	38	5239				LAMA3_ENST00000587184.1_Missense_Mutation_p.S8L|LAMA3_ENST00000269217.6_Missense_Mutation_p.S8L|LAMA3_ENST00000399516.3_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTGAGGCGGTCAGCCTGCAGC	0.622																																																	0													80	76	78					18																	21453031		2203	4300	6503	SO:0001627	intron_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4998+1406C>T	18.37:g.21453031C>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_STAT_TF_coiled-coil,smart_EGF_laminin,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.S8L	ENST00000313654.9	37	c.23	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	8.374	0.836066	0.16891	.	.	ENSG00000053747	ENST00000269217	T	0.03889	3.77	5.7	1.7	0.24286	.	.	.	.	.	T	0.03520	0.0101	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42716	-0.9435	9	0.40728	T	0.16	.	5.6689	0.17711	0.0:0.5257:0.3058:0.1685	.	8;8	Q6VU69;B0YJ33	.;.	L	8	ENSP00000269217:S8L	ENSP00000269217:S8L	S	+	2	0	LAMA3	19707029	0.006000	0.16342	0.004000	0.12327	0.003000	0.03518	0.747000	0.26290	0.344000	0.23847	-0.172000	0.13284	TCA	LAMA3	-	NULL		0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129		21453031	1	no_errors	ENST00000269217	ensembl	human	known	70_37	missense	SNP	0.001	T	T	21453031	C	T	21453031	1	4	119	0	1	0	0	0	0	0	0	0	8627	838	29	1		1	LAMA3	18	21453031	Intron	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		21453031	56624217	70	19138										
REEP6	92840	genome.wustl.edu	37	chr19	1496286	1496286	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	tcctgccccgccctgcagtgCgccttcctgttgttctgcat	9	17	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr19:1496286C>A	ENST00000233596.3	+	4	455	c.351C>A	c.(349-351)tgC>tgA	p.C117*		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	117					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCAGTGCGCCTTCCTGT	0.672																																																	0													69	54	59					19																	1496286		2202	4299	6501	SO:0001587	stop_gained	92840			BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.351C>A	19.37:g.1496286C>A	ENSP00000233596:p.Cys117*		B2RE01|D6W5Z0|Q96LM0	Nonsense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.C117*	ENST00000233596.3	37	c.351	CCDS12070.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.81|19.81	3.897446|3.897446	0.72639|0.72639	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	.|.	.|.	.|.	4.97|4.97	1.41|1.41	0.22369|0.22369	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48624	.|0.1510	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59053	.|-0.7526	.|4	0.02654|0.62326	T|D	1|0.03	-9.4907|-9.4907	7.5145|7.5145	0.27593|0.27593	0.0:0.576:0.0:0.424|0.0:0.576:0.0:0.424	.|.	.|.	.|.	.|.	X|S	117|185	.|.	ENSP00000233596:C117X|ENSP00000378865:R185S	C|R	+|+	3|1	2|0	REEP6|REEP6	1447286|1447286	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.105000|0.105000	0.19272|0.19272	1.876000|1.876000	0.39588|0.39588	0.517000|0.517000	0.28361|0.28361	-0.267000|-0.267000	0.10333|0.10333	TGC|CGC	REEP6	-	pfam_TB2_DP1_HVA22		0.672	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP6	HGNC	protein_coding	OTTHUMT00000449623.1	C	NM_138393		1496286	1	no_errors	ENST00000233596	ensembl	human	known	70_37	nonsense	SNP	0.979	A	A	1496286	C	A	1496286	4	1	119	1	0	0	0	0	0	1	0	0	13239	776	27	2	365	2	REEP6	19	1496286	Nonsense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		1496286	57632697	71	19139										
SLC44A2	57153	genome.wustl.edu	37	chr19	10741799	10741799	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cccctggttctgctggaattCcaatgtcccactccccaggt	8	16	1	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr19:10741799C>G	ENST00000335757.5	+	5	688	c.312C>G	c.(310-312)ttC>ttG	p.F104L	SLC44A2_ENST00000407327.4_Missense_Mutation_p.F102L|SLC44A2_ENST00000586078.1_Missense_Mutation_p.F104L			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	104					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGCTGGAATTCCAATGTCCCA	0.507																																																	0													100	92	95					19																	10741799		2203	4300	6503	SO:0001583	missense	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.312C>G	19.37:g.10741799C>G	ENSP00000336888:p.Phe104Leu		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.F104L	ENST00000335757.5	37	c.312	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.373425	0.01214	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.10192	2.9;2.9	4.69	1.25	0.21368	.	0.051219	0.85682	D	0.000000	T	0.05686	0.0149	L	0.28458	0.855	0.44417	D	0.99733	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.33033	-0.9884	10	0.02654	T	1	.	7.1307	0.25499	0.0:0.6053:0.0:0.3947	.	104;102	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	L	102;104;104	ENSP00000385135:F102L;ENSP00000336888:F104L	ENSP00000336888:F104L	F	+	3	2	SLC44A2	10602799	0.973000	0.33851	1.000000	0.80357	0.249000	0.25844	0.152000	0.16302	0.592000	0.29728	0.456000	0.33151	TTC	SLC44A2	-	NULL		0.507	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	C			10741799	1	no_errors	ENST00000335757	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10741799	C	G	10741799	3	3	119	1	0	0	0	0	1	0	0	0	14666	854	30	1	365	1	SLC44A2	19	10741799	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	9245513	10741799	48387184	72	19140										
AKAP8	10270	genome.wustl.edu	37	chr19	15484149	15484149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cgaacggctggaagcggaagGagctgcaacagaagcacagc	15	10	0	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr19:15484149G>A	ENST00000269701.2	-	5	434	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	125					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GAAGCGGAAGGAGCTGCAACA	0.597																																					GBM(190;1671 2163 3274 27186 30476)												0													18	18	18					19																	15484149		2203	4300	6503	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.374C>T	19.37:g.15484149G>A	ENSP00000269701:p.Ser125Phe			Missense_Mutation	SNP	pfam_AKAP95	p.S125F	ENST00000269701.2	37	c.374	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	g	14.39	2.521075	0.44866	.	.	ENSG00000105127	ENST00000269701	T	0.50277	0.75	4.82	3.75	0.43078	.	0.290065	0.25094	N	0.033186	T	0.41581	0.1165	L	0.57536	1.79	0.80722	D	1	B	0.33583	0.418	B	0.26693	0.072	T	0.44697	-0.9311	10	0.72032	D	0.01	-20.3959	11.7557	0.51874	0.0:0.0:0.823:0.177	.	125	O43823	AKAP8_HUMAN	F	125	ENSP00000269701:S125F	ENSP00000269701:S125F	S	-	2	0	AKAP8	15345149	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.224000	0.58593	1.121000	0.41925	0.651000	0.88453	TCC	AKAP8	-	NULL		0.597	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	G	NM_005858		15484149	-1	no_errors	ENST00000269701	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15484149	G	A	15484149	3	1	119	1	0	0	0	0	1	0	0	0	457	1174	41	1	1744	1	AKAP8	19	15484149	Missense_Mutation	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	4742350	15484149	43644834	73	19141										
CYP4F2	8529	genome.wustl.edu	37	chr19	16000293	16000293	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gatttggccttggcttggagGaagtcatcaacaccctggct	12	10	2	0	rs564383704		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr19:16000293G>A	ENST00000221700.6	-	7	953	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F2_ENST00000011989.7_Silent_p.F137F	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGCTTGGAGGAAGTCATCAA	0.572													.|||	1	0.000199681	0	0	5008	,	,		19773	0		0	False		,,,				2504	0.001																0													70	67	68					19																	16000293		2203	4300	6503	SO:0001819	synonymous_variant	8529			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.858C>T	19.37:g.16000293G>A				Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F286	ENST00000221700.6	37	c.858	CCDS12336.1	19																																																																																			CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.572	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	G	NM_001082		16000293	-1	no_errors	ENST00000221700	ensembl	human	known	70_37	silent	SNP	0.221	A	A	16000293	G	A	16000293	2	1	119	1	0	0	0	0	0	0	0	1	4193	1165	41	1		1	CYP4F2	19	16000293	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09	516144	16000293	43128690	74	19142										
HAS1	3036	genome.wustl.edu	37	chr19	52222789	52222789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	aggacgcgcagccgcgcgcgCgggtacagcagggcgcgggc	20	14	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr19:52222789C>T	ENST00000222115.1	-	2	406	c.372G>A	c.(370-372)ccG>ccA	p.P124P	HAS1_ENST00000601714.1_Silent_p.P131P|HAS1_ENST00000540069.2_Silent_p.P123P|HAS1_ENST00000594621.1_5'Flank	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	124					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCCGCGCGCGCGGGTACAGCA	0.711																																					NSCLC(132;636 2450 45807 47979)												0													5	5	5					19																	52222789		1929	3731	5660	SO:0001819	synonymous_variant	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.372G>A	19.37:g.52222789C>T			Q14470|Q9NS49	Silent	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.P124	ENST00000222115.1	37	c.372	CCDS12838.1	19																																																																																			HAS1	-	NULL		0.711	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	C	NM_001523		52222789	-1	no_errors	ENST00000222115	ensembl	human	known	70_37	silent	SNP	0.459	T	T	52222789	C	T	52222789	2	4	119	1	0	0	0	0	0	0	0	1	6981	755	27	2		2	HAS1	19	52222789	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	36222496	52222789	6906194	75	19143										
MYH7B	57644	genome.wustl.edu	37	chr20	33568502	33568502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ttccccgccccatatatatgCggtggcggacaacgcctaca	9	15	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr20:33568502C>T	ENST00000262873.7	+	6	682	c.590C>T	c.(589-591)gCg>gTg	p.A197V	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	155	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CATATATATGCGGTGGCGGAC	0.612																																																	0													67	75	72					20																	33568502		2114	4242	6356	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.590C>T	20.37:g.33568502C>T	ENSP00000262873:p.Ala197Val		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A197V	ENST00000262873.7	37	c.590	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999227	0.74818	.	.	ENSG00000078814	ENST00000262873	D	0.89681	-2.55	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.207473	0.24206	N	0.040574	D	0.94417	0.8204	H	0.98701	4.305	0.51767	D	0.999936	D	0.57571	0.98	B	0.43990	0.438	D	0.97044	0.9759	10	0.87932	D	0	.	17.6559	0.88177	0.0:1.0:0.0:0.0	.	155	A7E2Y1	MYH7B_HUMAN	V	197	ENSP00000262873:A197V	ENSP00000262873:A197V	A	+	2	0	MYH7B	33032163	1.000000	0.71417	0.451000	0.26982	0.011000	0.07611	7.651000	0.83577	2.472000	0.83506	0.655000	0.94253	GCG	MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.612	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	C	NM_020884		33568502	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	33568502	C	T	33568502	3	4	119	1	0	0	0	0	1	0	0	0	10063	768	27	2	612	2	MYH7B	20	33568502	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		33568502	29457018	76	19144										
GDF5	8200	genome.wustl.edu	37	chr20	34022246	34022246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gaagcccaggccacggaggtCcacggccctgccccgttccc	12	19	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr20:34022246C>T	ENST00000374372.1	-	4	1470	c.967G>A	c.(967-969)Gac>Aac	p.D323N	GDF5_ENST00000374369.3_Missense_Mutation_p.D323N|GDF5OS_ENST00000374375.1_Missense_Mutation_p.S97F			P43026	GDF5_HUMAN	growth differentiation factor 5	323					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCACGGAGGTCCACGGCCCTG	0.632																																																	0													22	24	23					20																	34022246		2200	4298	6498	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.967G>A	20.37:g.34022246C>T	ENSP00000363492:p.Asp323Asn		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.D323N	ENST00000374372.1	37	c.967	CCDS13254.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.62|18.62	3.662662|3.662662	0.67700|0.67700	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.64991|.	-0.13;-0.13|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Transforming growth factor-beta, N-terminal (1);|.	0.055842|.	0.64402|.	D|.	0.000002|.	T|T	0.73923|0.73923	0.3649|0.3649	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	B;B|.	0.22003|.	0.036;0.063|.	B;B|.	0.24848|.	0.056;0.043|.	T|T	0.77670|0.77670	-0.2501|-0.2501	10|6	0.48119|0.87932	T|D	0.1|0	.|.	17.6966|17.6966	0.88283|0.88283	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;323|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	N|F	323|97	ENSP00000363489:D323N;ENSP00000363492:D323N|.	ENSP00000363489:D323N|ENSP00000363495:S97F	D|S	-|+	1|2	0|0	GDF5|GDF5OS	33485660|33485660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	7.651000|7.651000	0.83577|0.83577	2.399000|2.399000	0.81585|0.81585	0.491000|0.491000	0.48974|0.48974	GAC|TCC	GDF5	-	pfam_TGF-b_N		0.632	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	C			34022246	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34022246	C	T	34022246	3	4	119	1	0	0	0	0	1	0	0	0	6335	855	30	1	542	1	GDF5	20	34022246	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	453744	34022246	29003274	77	19145										
ZNF512B	57473	genome.wustl.edu	37	chr20	62595898	62595898	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gacgcagggcctgcagccttCagtgcctccatgccccctga	11	17	1	1			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr20:62595898C>T	ENST00000450537.1	-	6	1266	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ZNF512B_ENST00000369888.1_Silent_p.L402L|ZNF512B_ENST00000217130.3_Silent_p.L402L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTGCAGCCTTCAGTGCCTCCA	0.687																																																	0													36	36	36					20																	62595898		2202	4299	6501	SO:0001819	synonymous_variant	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1206G>A	20.37:g.62595898C>T			Q08AK9|Q9ULM4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L402	ENST00000450537.1	37	c.1206	CCDS13548.1	20																																																																																			ZNF512B	-	NULL		0.687	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	C	NM_020713		62595898	-1	no_errors	ENST00000217130	ensembl	human	known	70_37	silent	SNP	0.000	T	T	62595898	C	T	62595898	2	4	119	1	0	0	0	0	0	0	0	1	17987	813	29	1		1	ZNF512B	20	62595898	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09	28573652	62595898	429622	78	19146										
PCBP3	54039	genome.wustl.edu	37	chr21	47333873	47333873	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	cccttttcctagtccccaccGaaaggtgccaccattcccta	5	18	0	0			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr21:47333873G>A	ENST00000400314.1	+	10	947	c.609G>A	c.(607-609)ccG>ccA	p.P203P	PCBP3_ENST00000400304.1_Silent_p.P171P|PCBP3_ENST00000400310.1_Silent_p.P203P|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Silent_p.P203P|PCBP3_ENST00000449640.1_Silent_p.P203P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	203					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCCCCACCGAAAGGTGCCA	0.642																																																	0													71	82	78					21																	47333873		2011	4165	6176	SO:0001819	synonymous_variant	54039			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.609G>A	21.37:g.47333873G>A			A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.P203	ENST00000400314.1	37	c.609	CCDS42974.2	21																																																																																			PCBP3	-	NULL		0.642	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	G			47333873	1	no_errors	ENST00000400314	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47333873	G	A	47333873	2	1	119	1	0	0	0	0	0	0	0	1	11526	1045	37	1		1	PCBP3	21	47333873	Silent	SNP	G	TCGA-EK-A3GN-01A-11D-A20U-09		47333873	796022	79	19147										
SGSM1	129049	genome.wustl.edu	37	chr22	25297862	25297862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	gagaaggatgtgcagaggtgCgaccgcaactactggtactt	14	8	0	2	rs577535941		TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chr22:25297862C>T	ENST00000400359.4	+	21	2845	c.2838C>T	c.(2836-2838)tgC>tgT	p.C946C	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Silent_p.C891C	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	946	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCAGAGGTGCGACCGCAACT	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		13158	0		0	False		,,,				2504	0																0													45	43	43					22																	25297862		2203	4300	6503	SO:0001819	synonymous_variant	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2838C>T	22.37:g.25297862C>T			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.C946	ENST00000400359.4	37	c.2838	CCDS46674.1	22																																																																																			SGSM1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.592	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25297862	1	no_errors	ENST00000400359	ensembl	human	known	70_37	silent	SNP	0.244	T	T	25297862	C	T	25297862	2	4	119	1	0	0	0	0	0	0	0	1	14252	776	27	2		2	SGSM1	22	25297862	Silent	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		25297862	26006704	80	19148										
RPS6KA6	27330	genome.wustl.edu	37	chrX	83372122	83372122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.172839506172839	14	0.00867586410912501	2.12609085718946	0	2.26108075288403	4.98546736263792e-08	1.07464518705751e-06	7	ccttagaagactttgtgcttCagcactaagaaattgaggca	9	8	1	4			TCGA-EK-A3GN-01A-11D-A20U-09	TCGA-EK-A3GN-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d8016a3d-d2e9-45ba-ac10-9587913f76ef	5e78de9c-5e9e-4a85-9952-cacd7592adad	g.chrX:83372122C>T	ENST00000262752.2	-	11	902	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E299K	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	299	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTGTGCTTCAGCACTAAGA	0.318																																																	0													51	48	49					X																	83372122		2201	4296	6497	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.895G>A	X.37:g.83372122C>T	ENSP00000262752:p.Glu299Lys		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E299K	ENST00000262752.2	37	c.895	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702921	0.88924	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.52754	0.65;0.65	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.76002	2.32	0.80722	D	1	P;P	0.38250	0.624;0.624	P;B	0.47251	0.542;0.439	T	0.65549	-0.6141	10	0.54805	T	0.06	.	17.0306	0.86460	0.0:1.0:0.0:0.0	.	299;299	B7ZL90;Q9UK32	.;KS6A6_HUMAN	K	299	ENSP00000262752:E299K;ENSP00000440830:E299K	ENSP00000262752:E299K	E	-	1	0	RPS6KA6	83258778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.552000	0.82192	2.028000	0.59812	0.600000	0.82982	GAA	RPS6KA6	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.318	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83372122	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83372122	C	T	83372122	3	4	119	1	0	0	0	0	1	0	0	0	13685	835	29	1	1390	1	RPS6KA6	23	83372122	Missense_Mutation	SNP	C	TCGA-EK-A3GN-01A-11D-A20U-09		83372122	71898438	81	19149										
CASZ1	54897	genome.wustl.edu	37	chr1	10699536	10699536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	atctgcgacatgcccaccacCgtgtggcggcagcccgggaa	13	15	1	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:10699536C>T	ENST00000377022.3	-	21	5060	c.4743G>A	c.(4741-4743)acG>acA	p.T1581T	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1581					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1581T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGCCCACCACCGTGTGGCGGC	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											16	25	22					1																	10699536		2069	4186	6255	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4743G>A	1.37:g.10699536C>T			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1581	ENST00000377022.3	37	c.4743	CCDS41246.1	1																																																																																			CASZ1	-	smart_Znf_C2H2-like		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	C	NM_017766		10699536	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	0.996	T	T	10699536	C	T	10699536	2	4	120	1	0	0	0	0	0	0	0	1	2690	639	23	2		2	CASZ1	1	10699536	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		10699536	238551085	1	19150										
PLEKHM2	23207	genome.wustl.edu	37	chr1	16044409	16044409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ccgtgcctggctgtacctggCcctcaacgagaactccttgg	11	15	1	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:16044409C>T	ENST00000375799.3	+	4	526	c.299C>T	c.(298-300)gCc>gTc	p.A100V	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A100V	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	100	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)	p.A203V(1)|p.A100V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGTACCTGGCCCTCAACGAG	0.562																																																	2	Substitution - Missense(2)	cervix(2)											64	66	65					1																	16044409		1956	4153	6109	SO:0001583	missense	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.299C>T	1.37:g.16044409C>T	ENSP00000364956:p.Ala100Val		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.A100V	ENST00000375799.3	37	c.299	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.716487	0.96830	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.43294	0.95;0.95	5.17	5.17	0.71159	RUN (3);	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	M	0.75884	2.315	0.80722	D	1	D	0.57571	0.98	D	0.63957	0.92	T	0.66248	-0.5971	10	0.52906	T	0.07	-25.6353	19.0574	0.93070	0.0:1.0:0.0:0.0	.	100	Q8IWE5	PKHM2_HUMAN	V	100	ENSP00000364956:A100V;ENSP00000364950:A100V	ENSP00000364950:A100V	A	+	2	0	PLEKHM2	15916996	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.734000	0.84928	2.578000	0.87016	0.655000	0.94253	GCC	PLEKHM2	-	pfam_Run,smart_Run,pfscan_Run		0.562	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	C	NM_015164		16044409	1	no_errors	ENST00000375799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16044409	C	T	16044409	3	4	120	1	0	0	0	0	1	0	0	0	12105	739	26	4	313	4	PLEKHM2	1	16044409	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	5344873	16044409	233206212	2	19151										
EPB41	2035	genome.wustl.edu	37	chr1	29314294	29314294	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ggtgaaggaggtcagaaagaGatagaatttggaaccagtct	14	4	2	4			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:29314294G>A	ENST00000343067.4	+	2	472	c.345G>A	c.(343-345)gaG>gaA	p.E115E	EPB41_ENST00000373797.1_Silent_p.E115E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Silent_p.E115E|EPB41_ENST00000356093.2_Silent_p.E115E|EPB41_ENST00000347529.3_Silent_p.E115E|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Silent_p.E115E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	115					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E115E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTCAGAAAGAGATAGAATTTG	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											125	130	128					1																	29314294		2203	4300	6503	SO:0001819	synonymous_variant	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.345G>A	1.37:g.29314294G>A			B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E115	ENST00000343067.4	37	c.345	CCDS53288.1	1																																																																																			EPB41	-	pirsf_Band_41_protein		0.423	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	G	NM_203342		29314294	1	no_errors	ENST00000343067	ensembl	human	known	70_37	silent	SNP	0.082	A	A	29314294	G	A	29314294	2	1	120	1	0	0	0	0	0	0	0	1	5163	933	33	1		1	EPB41	1	29314294	Silent	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	13269885	29314294	219936327	3	19152										
ZMYM1	79830	genome.wustl.edu	37	chr1	35579239	35579239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	taaaggagaagaaacatttcGacttatgaattcacaagttg	8	5	1	3			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:35579239G>A	ENST00000373330.1	+	11	1982	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R603Q			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	603						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R603Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAACATTTCGACTTATGAAT	0.318																																																	1	Substitution - Missense(1)	cervix(1)											43	42	43					1																	35579239		1829	4066	5895	SO:0001583	missense	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1808G>A	1.37:g.35579239G>A	ENSP00000362427:p.Arg603Gln		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH	p.R603Q	ENST00000373330.1	37	c.1808	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	G	3.170	-0.170222	0.06461	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.19532	2.4;2.14;2.4	4.44	-1.88	0.07713	.	0.540328	0.15615	N	0.253162	T	0.11110	0.0271	L	0.41236	1.265	0.09310	N	1	P;B	0.48834	0.916;0.12	B;B	0.35312	0.2;0.019	T	0.23691	-1.0181	9	.	.	.	-0.2192	5.9949	0.19489	0.5092:0.1394:0.3514:0.0	.	584;603	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Q	603;528;603	ENSP00000352920:R603Q;ENSP00000362426:R528Q;ENSP00000362427:R603Q	.	R	+	2	0	ZMYM1	35351826	0.000000	0.05858	0.112000	0.21494	0.458000	0.32498	-0.385000	0.07379	-0.344000	0.08338	-0.218000	0.12543	CGA	ZMYM1	-	NULL		0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	G	NM_024772		35579239	1	no_errors	ENST00000359858	ensembl	human	known	70_37	missense	SNP	0.018	A	A	35579239	G	A	35579239	3	1	120	1	0	0	0	0	1	0	0	0	17729	1058	37	1	1842	1	ZMYM1	1	35579239	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	6264945	35579239	213671382	4	19153										
GRIK3	2899	genome.wustl.edu	37	chr1	37270815	37270815	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	aagctgcaggatggcgatggTgatcttgtcccggtatgggg	17	7	1	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:37270815T>A	ENST00000373091.3	-	15	2354	c.2338A>T	c.(2338-2340)Acc>Tcc	p.T780S	GRIK3_ENST00000373093.4_Missense_Mutation_p.T780S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	780					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T780S(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATGGCGATGGTGATCTTGTCC	0.592																																																	1	Substitution - Missense(1)	cervix(1)											64	56	59					1																	37270815		2203	4300	6503	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2338A>T	1.37:g.37270815T>A	ENSP00000362183:p.Thr780Ser		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T780S	ENST00000373091.3	37	c.2338	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	T	8.748	0.920561	0.17982	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.09817	2.94;2.94	5.1	5.1	0.69264	Ionotropic glutamate receptor (2);	0.059581	0.64402	D	0.000003	T	0.04998	0.0134	N	0.01800	-0.715	0.50632	D	0.999885	B;B	0.22851	0.076;0.076	B;B	0.34301	0.179;0.179	T	0.25187	-1.0139	10	0.02654	T	1	.	14.8695	0.70444	0.0:0.0:0.0:1.0	.	780;780	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	780	ENSP00000362183:T780S;ENSP00000362185:T780S	ENSP00000362183:T780S	T	-	1	0	GRIK3	37043402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.993000	0.63895	1.915000	0.55452	0.519000	0.50382	ACC	GRIK3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	T	NM_000831		37270815	-1	no_errors	ENST00000373091	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37270815	T	A	37270815	3	1	120	1	0	0	0	0	1	0	0	0	6795	1696	59	5	429	5	GRIK3	1	37270815	Missense_Mutation	SNP	T	TCGA-EX-A1H5-01A-31D-A13W-08	1691576	37270815	211979806	5	19154										
NBPF15	284565	genome.wustl.edu	37	chr1	148594456	148594456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cttacaggactcactggataGatgttattcgactccgtcaa	8	10	2	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:148594456G>A	ENST00000369187.3	+	19	2318	c.1829G>A	c.(1828-1830)aGa>aAa	p.R610K	NBPF15_ENST00000442702.2_Missense_Mutation_p.R610K	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	610	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.R610K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TCACTGGATAGATGTTATTCG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											195	254	234					1																	148594456		2203	4299	6502	SO:0001583	missense	284565			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1829G>A	1.37:g.148594456G>A	ENSP00000358188:p.Arg610Lys		Q3BBV9|Q8IX77	Missense_Mutation	SNP	pfam_NBPF_dom	p.R610K	ENST00000369187.3	37	c.1829	CCDS932.1	1	.	.	.	.	.	.	.	.	.	.	.	7.985	0.751974	0.15778	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.07688	3.17;3.17	0.502	-1.0	0.10196	DUF1220 (2);	.	.	.	.	T	0.04770	0.0129	M	0.76002	2.32	0.09310	N	1	P	0.37122	0.583	B	0.42882	0.401	T	0.29671	-1.0004	8	0.52906	T	0.07	.	.	.	.	.	610	Q8N660	NBPFF_HUMAN	K	610	ENSP00000416864:R610K;ENSP00000358188:R610K	ENSP00000358188:R610K	R	+	2	0	NBPF15	146861080	0.949000	0.32298	0.000000	0.03702	0.001000	0.01503	-1.277000	0.02812	-0.522000	0.06417	-0.561000	0.04177	AGA	NBPF15	-	pfam_NBPF_dom		0.453	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF15	HGNC	protein_coding	OTTHUMT00000038609.3	G	NM_173638		148594456	1	no_errors	ENST00000369187	ensembl	human	known	70_37	missense	SNP	0.000	A	A	148594456	G	A	148594456	3	1	120	1	0	0	0	0	1	0	0	0	10219	942	33	1	1887	1	NBPF15	1	148594456	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	111323641	148594456	100656165	6	19155										
TPR	7175	genome.wustl.edu	37	chr1	186295304	186295304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tccttcattactatcttcacCctcatctcccatccctgtgt	2	17	5	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:186295304C>A	ENST00000367478.4	-	41	6249	c.5953G>T	c.(5953-5955)Ggt>Tgt	p.G1985C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1985					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ctatcttcaccctcatcTCCC	0.403			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													137	137	137					1																	186295304		2087	4219	6306	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5953G>T	1.37:g.186295304C>A	ENSP00000356448:p.Gly1985Cys		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.G1985C	ENST00000367478.4	37	c.5953	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025170	0.75390	.	.	ENSG00000047410	ENST00000367478	T	0.28666	1.6	4.27	4.27	0.50696	.	0.195693	0.53938	D	0.000048	T	0.40767	0.1130	M	0.61703	1.905	0.58432	D	0.999994	D	0.56746	0.977	P	0.48368	0.575	T	0.41070	-0.9529	10	0.51188	T	0.08	.	17.6148	0.88064	0.0:1.0:0.0:0.0	.	1985	P12270	TPR_HUMAN	C	1985	ENSP00000356448:G1985C	ENSP00000356448:G1985C	G	-	1	0	TPR	184561927	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.080000	0.50112	2.660000	0.90430	0.655000	0.94253	GGT	TPR	-	NULL		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186295304	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186295304	C	A	186295304	3	1	120	1	0	0	0	0	1	0	0	0	16447	623	22	4	1182	4	TPR	1	186295304	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	37700848	186295304	62955317	7	19156										
PIK3C2B	5287	genome.wustl.edu	37	chr1	204408075	204408075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	aaccctaccttctcatactcGtcctccccagggttgtgttt	6	15	1	0	rs368654473		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:204408075G>A	ENST00000367187.3	-	24	4060	c.3504C>T	c.(3502-3504)gaC>gaT	p.D1168D	PIK3C2B_ENST00000424712.2_Silent_p.D1140D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1168	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.D1168D(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCTCATACTCGTCCTCCCCAG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)						G		1,4405	2.1+/-5.4	0,1,2202	143	102	116		3504	-6.5	0.7	1		116	0,8600		0,0,4300	no	coding-synonymous	PIK3C2B	NM_002646.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1168/1635	204408075	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3504C>T	1.37:g.204408075G>A			O95666|Q5SW99	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.D1168	ENST00000367187.3	37	c.3504	CCDS1446.1	1																																																																																			PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	G	NM_002646		204408075	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	silent	SNP	0.317	A	A	204408075	G	A	204408075	2	1	120	1	0	0	0	0	0	0	0	1	11934	1136	40	2		2	PIK3C2B	1	204408075	Silent	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	18112771	204408075	44842546	8	19157										
DISP1	84976	genome.wustl.edu	37	chr1	223176989	223176989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ctgccctcactggagttatcCgagttccaggtgttccggtc	11	13	1	0	rs377033862		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr1:223176989C>T	ENST00000284476.6	+	8	2414	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	750					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S750S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGGAGTTATCCGAGTTCCAGG	0.463																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)						C		0,4406		0,0,2203	110	107	108		2250	-10.9	0	1		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DISP1	NM_032890.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		750/1525	223176989	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2250C>T	1.37:g.223176989C>T			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.S750	ENST00000284476.6	37	c.2250	CCDS1536.1	1																																																																																			DISP1	-	NULL		0.463	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	C	NM_032890		223176989	1	no_errors	ENST00000284476	ensembl	human	known	70_37	silent	SNP	0.003	T	T	223176989	C	T	223176989	2	4	120	1	0	0	0	0	0	0	0	1	4549	639	23	2		2	DISP1	1	223176989	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	18768914	223176989	26073632	9	19158										
C2orf7	84279	genome.wustl.edu	37	chr2	73456064	73456064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cgccgtgctcctggaccaccCgagtcttggagaggaaggag	15	12	1	1	rs372220247		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:73456064C>A	ENST00000258083.2	-	4	372	c.305G>T	c.(304-306)cGg>cTg	p.R102L	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	102	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CTGGACCACCCGAGTCTTGGA	0.592																																																	0													29	29	29					2																	73456064		2203	4300	6503	SO:0001583	missense	84279			BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.305G>T	2.37:g.73456064C>A	ENSP00000258083:p.Arg102Leu		Q2Z1P2	Missense_Mutation	SNP	pfam_Protease-assoc_domain	p.R102L	ENST00000258083.2	37	c.305	CCDS1924.1	2	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517398	0.27123	.	.	ENSG00000135617	ENST00000258083	T	0.06371	3.31	4.97	4.97	0.65823	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	N	0.26042	0.785	0.58432	D	0.999998	D	0.61697	0.99	D	0.79784	0.993	T	0.22173	-1.0224	10	0.08599	T	0.76	-23.4944	17.3245	0.87244	0.0:1.0:0.0:0.0	.	102	Q9BSG0	PADC1_HUMAN	L	102	ENSP00000258083:R102L	ENSP00000258083:R102L	R	-	2	0	PRADC1	73309572	0.996000	0.38824	0.982000	0.44146	0.922000	0.55478	3.747000	0.55134	2.748000	0.94277	0.650000	0.86243	CGG	PRADC1	-	pfam_Protease-assoc_domain		0.592	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRADC1	HGNC	protein_coding	OTTHUMT00000251989.1	C	NM_032319		73456064	-1	no_errors	ENST00000258083	ensembl	human	known	70_37	missense	SNP	0.988	A	A	73456064	C	A	73456064	3	1	120	1	0	0	0	0	1	0	0	0	2194	652	23	2	269	2	C2orf7	2	73456064	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		73456064	169743309	10	19159										
PSD4	23550	genome.wustl.edu	37	chr2	113955395	113955395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gatgagcccgtgggggtgcaCcactcgctggccacccccgc	14	17	0	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:113955395C>T	ENST00000245796.6	+	14	2724	c.2529C>T	c.(2527-2529)caC>caT	p.H843H	PSD4_ENST00000441564.3_Silent_p.H814H	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	843	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.H843H(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGGTGCACCACTCGCTGG	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											32	33	33					2																	113955395		2203	4300	6503	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2529C>T	2.37:g.113955395C>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.H843	ENST00000245796.6	37	c.2529	CCDS33276.1	2																																																																																			PSD4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	C	NM_012455		113955395	1	no_errors	ENST00000245796	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113955395	C	T	113955395	2	4	120	1	0	0	0	0	0	0	0	1	12676	506	18	4		4	PSD4	2	113955395	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	40499331	113955395	129243978	11	19160										
FOXD4L1	200350	genome.wustl.edu	37	chr2	114257595	114257595	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gcctaccccaacaccgccccCgggagacgcccttacgctct	8	21	1	1	rs199633498	byFrequency	TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:114257595C>G	ENST00000306507.5	+	1	935	c.762C>G	c.(760-762)ccC>ccG	p.P254P		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	254	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						ACACCGCCCCCGGGAGACGCC	0.726																																																	0													15	22	20					2																	114257595		1594	3087	4681	SO:0001819	synonymous_variant	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.762C>G	2.37:g.114257595C>G			B3KWN1|B9EGF3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P254	ENST00000306507.5	37	c.762	CCDS2117.1	2																																																																																			FOXD4L1	-	NULL		0.726	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	C	NM_012184		114257595	1	no_errors	ENST00000306507	ensembl	human	known	70_37	silent	SNP	0.866	G	G	114257595	C	G	114257595	2	3	120	1	0	0	0	0	0	0	0	1	6018	639	23	2		2	FOXD4L1	2	114257595	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	302200	114257595	128941778	12	19161			1	89		2	2	16	C		2.810333e-05
FOXD4L1	200350	genome.wustl.edu	37	chr2	114257610	114257610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gcccccgggagacgcccttaCgctctgctgcacccgcatcc	10	20	1	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:114257610C>T	ENST00000306507.5	+	1	950	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	259	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GACGCCCTTACGCTCTGCTGC	0.731																																																	0													16	21	19					2																	114257610		1631	3173	4804	SO:0001819	synonymous_variant	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.777C>T	2.37:g.114257610C>T			B3KWN1|B9EGF3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Y259	ENST00000306507.5	37	c.777	CCDS2117.1	2																																																																																			FOXD4L1	-	NULL		0.731	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	C	NM_012184		114257610	1	no_errors	ENST00000306507	ensembl	human	known	70_37	silent	SNP	0.923	T	T	114257610	C	T	114257610	2	4	120	1	0	0	0	0	0	0	0	1	6018	547	19	2		2	FOXD4L1	2	114257610	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	15	114257610	128941763	13	19162			1	89		2	2	16	C		2.810333e-05
POTEF	728378	genome.wustl.edu	37	chr2	130877709	130877709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ggtacctgggctccatgaagGcactgtcatcgtagtctccc	11	13	2	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:130877709G>A	ENST00000409914.2	-	3	779	c.380C>T	c.(379-381)gCc>gTc	p.A127V	POTEF_ENST00000361163.4_Missense_Mutation_p.A127V|POTEF_ENST00000357462.5_Missense_Mutation_p.A127V|POTEF_ENST00000360967.5_Missense_Mutation_p.A127V	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	127					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A127V(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCATGAAGGCACTGTCATC	0.587																																																	2	Substitution - Missense(2)	cervix(2)											85	99	94					2																	130877709		2201	4299	6500	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.380C>T	2.37:g.130877709G>A	ENSP00000386786:p.Ala127Val		A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.A127V	ENST00000409914.2	37	c.380	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	9.983	1.228614	0.22542	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76448	-1.02;-1.02;0.69;0.69	1.05	-2.11	0.07187	.	.	.	.	.	T	0.67841	0.2936	L	0.58101	1.795	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.54931	-0.8219	9	0.87932	D	0	.	2.8072	0.05431	0.3814:0.2562:0.3624:0.0	.	127	A5A3E0	POTEF_HUMAN	V	127	ENSP00000350052:A127V;ENSP00000386786:A127V;ENSP00000354232:A127V;ENSP00000355012:A127V	ENSP00000350052:A127V	A	-	2	0	POTEF	130594179	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.949000	0.03893	-1.320000	0.02283	0.162000	0.16502	GCC	POTEF	-	NULL		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	G	NM_001099771		130877709	-1	no_errors	ENST00000357462	ensembl	human	known	70_37	missense	SNP	0.000	A	A	130877709	G	A	130877709	3	1	120	1	0	0	0	0	1	0	0	0	12289	1203	42	4	2907	4	POTEF	2	130877709	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	16620099	130877709	112321664	14	19163										
PLEKHM3	389072	genome.wustl.edu	37	chr2	208865987	208865987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cagaacgaggccggtccctcCgacgctgacagatattgaag	12	12	0	4			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:208865987C>T	ENST00000427836.2	-	2	866	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.R126Q|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R126Q	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	126					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.R126Q(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGTCCCTCCGACGCTGACA	0.468																																																	2	Substitution - Missense(2)	cervix(2)											105	105	105					2																	208865987		2085	4222	6307	SO:0001583	missense	389072			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.377G>A	2.37:g.208865987C>T	ENSP00000417003:p.Arg126Gln		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R126Q	ENST00000427836.2	37	c.377	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.219264	0.95139	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.86230	-2.0;-2.02;-2.09	5.56	5.56	0.83823	.	0.069336	0.53938	D	0.000043	D	0.90092	0.6905	L	0.27053	0.805	0.43279	D	0.99524	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.91108	0.4920	10	0.87932	D	0	.	19.9626	0.97256	0.0:1.0:0.0:0.0	.	126;126	C9J119;Q6ZWE6	.;PKHM3_HUMAN	Q	126	ENSP00000417003:R126Q;ENSP00000373899:R126Q;ENSP00000400150:R126Q	ENSP00000373899:R126Q	R	-	2	0	PLEKHM3	208574232	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.039000	0.57325	2.784000	0.95788	0.644000	0.83932	CGG	PLEKHM3	-	NULL		0.468	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	C	NM_001080475		208865987	-1	no_errors	ENST00000427836	ensembl	human	known	70_37	missense	SNP	1.000	T	T	208865987	C	T	208865987	3	4	120	1	0	0	0	0	1	0	0	0	12106	652	23	2	1936	2	PLEKHM3	2	208865987	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	77988278	208865987	34333386	15	19164										
BARD1	580	genome.wustl.edu	37	chr2	215645967	215645968	+	Frame_Shift_Ins	INS	-	-	C													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttttggttgatttcagctaaINSagttttctttttttgctttt							TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr2:215645967_215645968insC	ENST00000260947.4	-	4	764_765	c.630_631insG	c.(628-633)actttafs	p.L211fs	BARD1_ENST00000449967.2_Frame_Shift_Ins_p.L67fs|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	211					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTCAGCTAAAGTTTTCTTTT	0.376									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0																																										SO:0001589	frameshift_variant	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.630_631insG	2.37:g.215645967_215645968insC	ENSP00000260947:p.Leu211fs		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.L210fs	ENST00000260947.4	37	c.631_630	CCDS2397.1	2																																																																																			BARD1	-	NULL		0.376	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	NM_000465		215645968	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	frame_shift_ins	INS	0.942:0.919	C	C	215645968	-	C	215645967	7	5	120	1	0	1	1	0	0	0	0	0	1313	11	1	0	1734	0	BARD1	2	215645967	Frame_Shift_Ins	INS	-	TCGA-EX-A1H5-01A-31D-A13W-08	6779980	215645967	27553406	16	19165										
MST1	327	genome.wustl.edu	37	chr3	49722905	49722906	+	IGR	INS	-	-	G													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	actggcccaactcctaacctINSggggggtccaggattgatgg							TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr3:49722905_49722906insG	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Splice_Site_p.P474fs|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTCCTAACCTGGGGGGTCCAG	0.589																																																	0																																										SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722911_49722911dupG			Q9BQ33|Q9P0Y2	Frame_Shift_Ins	INS	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D475fs	ENST00000296456.5	37	c.1422_1421	CCDS2801.1	3																																																																																			MST1	-	superfamily_Kringle-like		0.589	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	-			49722906	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	frame_shift_ins	INS	0.996:0.969	G	G	49722906	-	G	49722905	6	5	120	0	1	1	1	0	0	0	0	0	9913	1594	55	0		0	MST1	3	49722905	IGR	INS	-	TCGA-EX-A1H5-01A-31D-A13W-08		49722905	148299525	17	19166										
ALPK1	80216	genome.wustl.edu	37	chr4	113353125	113353125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	actttcacagggtcctgcacAattctctgggaaacatttcc	7	12	2	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr4:113353125A>C	ENST00000458497.1	+	11	2701	c.2422A>C	c.(2422-2424)Aat>Cat	p.N808H	ALPK1_ENST00000177648.9_Missense_Mutation_p.N808H|ALPK1_ENST00000504176.2_Missense_Mutation_p.N730H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	808							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N808H(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGTCCTGCACAATTCTCTGGG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											56	46	50					4																	113353125		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2422A>C	4.37:g.113353125A>C	ENSP00000398048:p.Asn808His		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.N808H	ENST00000458497.1	37	c.2422	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	A	10.64	1.405699	0.25378	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02525	4.33;4.33;4.26	5.1	0.975	0.19721	.	1.693190	0.02695	N	0.111124	T	0.03011	0.0089	L	0.29908	0.895	0.09310	N	1	P;P;P	0.42337	0.763;0.776;0.65	B;B;B	0.38056	0.264;0.19;0.135	T	0.39881	-0.9592	10	0.44086	T	0.13	-0.5119	5.4141	0.16363	0.2068:0.0:0.5189:0.2744	.	730;730;808	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	H	808;808;730	ENSP00000398048:N808H;ENSP00000177648:N808H;ENSP00000426044:N730H	ENSP00000177648:N808H	N	+	1	0	ALPK1	113572574	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.050000	0.11904	-0.028000	0.13850	0.533000	0.62120	AAT	ALPK1	-	NULL		0.498	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	A	NM_025144		113353125	1	no_errors	ENST00000177648	ensembl	human	known	70_37	missense	SNP	0.000	C	C	113353125	A	C	113353125	3	2	120	1	0	0	0	0	1	0	0	0	544	130	5	5	2456	5	ALPK1	4	113353125	Missense_Mutation	SNP	A	TCGA-EX-A1H5-01A-31D-A13W-08		113353125	77801151	18	19167										
GAB1	2549	genome.wustl.edu	37	chr4	144359596	144359596	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	attcctccacctcggccaccGaaaccacatccagctcatga	5	18	1	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr4:144359596G>A	ENST00000262994.4	+	4	1340	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	GAB1_ENST00000505913.1_Silent_p.P243P|GAB1_ENST00000262995.4_Silent_p.P346P	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	346					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P346P(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CTCGGCCACCGAAACCACATC	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											152	123	133					4																	144359596		2203	4300	6503	SO:0001819	synonymous_variant	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1038G>A	4.37:g.144359596G>A			A8K152|Q4W5G2|Q6P1W2	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P346	ENST00000262994.4	37	c.1038	CCDS3759.1	4																																																																																			GAB1	-	NULL		0.493	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	G	NM_002039		144359596	1	no_errors	ENST00000262995	ensembl	human	known	70_37	silent	SNP	0.292	A	A	144359596	G	A	144359596	2	1	120	1	0	0	0	0	0	0	0	1	6166	1045	37	1		1	GAB1	4	144359596	Silent	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	31006471	144359596	46794680	19	19168										
LNPEP	4012	genome.wustl.edu	37	chr5	96322254	96322254	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tgcttgtagaagtcatcagtCgttctagatgatggacttgt	11	6	3	3	rs142457895		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr5:96322254C>T	ENST00000231368.5	+	4	1703	c.1011C>T	c.(1009-1011)gtC>gtT	p.V337V	LNPEP_ENST00000395770.3_Silent_p.V323V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	337					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V337V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTCATCAGTCGTTCTAGATG	0.383																																																	1	Substitution - coding silent(1)	cervix(1)						C	,	0,4406		0,0,2203	190	183	185		1011,969	-3.2	0	5	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LNPEP	NM_005575.2,NM_175920.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	337/1026,323/1012	96322254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1011C>T	5.37:g.96322254C>T			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V337	ENST00000231368.5	37	c.1011	CCDS4087.1	5																																																																																			LNPEP	-	pfam_Peptidase_M1_N		0.383	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	C	NM_005575		96322254	1	no_errors	ENST00000231368	ensembl	human	known	70_37	silent	SNP	0.000	T	T	96322254	C	T	96322254	2	4	120	1	0	0	0	0	0	0	0	1	8885	871	31	1		1	LNPEP	5	96322254	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		96322254	84593006	20	19169										
PCDHA8	56140	genome.wustl.edu	37	chr5	140222139	140222139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tactcgttggtgctggacagCgccctggaccgcgagagagt	15	11	0	1	rs147149527	byFrequency	TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr5:140222139C>T	ENST00000531613.1	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.S411S|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCCCTGGACC	0.627													.|||	6	0.00119808	0	0.0043	5008	,	,		16950	0.001		0	False		,,,				2504	0.002																0								C	,,,,,,,,,,	2,4402	4.2+/-10.8	0,2,2200	130	113	118		,,,,,,,1233,,,1233	1.7	0.8	5	dbSNP_134	118	9,8569	4.3+/-15.6	1,7,4281	no	intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,coding-synonymous	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,,,,	1,9,6481	TT,TC,CC		0.1049,0.0454,0.0847	,,,,,,,,,,	,,,,,,,411/951,,,411/815	140222139	11,12971	2202	4289	6491	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1233C>T	5.37:g.140222139C>T			B9EGT7|O75281	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S411	ENST00000531613.1	37	c.1233	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.627	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	C	NM_018911		140222139	1	no_errors	ENST00000531613	ensembl	human	known	70_37	silent	SNP	0.000	T	T	140222139	C	T	140222139	2	4	120	1	0	0	0	0	0	0	0	1	11554	767	27	2		2	PCDHA8	5	140222139	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	43899885	140222139	40693121	21	19170										
PCDHB16	57717	genome.wustl.edu	37	chr5	140563728	140563728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gggagttcgagttccgcgtgAgcgccacagaccgcggctcc	15	14	0	2	rs2697532	byFrequency	TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr5:140563728A>G	ENST00000361016.2	+	1	2749	c.1594A>G	c.(1594-1596)Agc>Ggc	p.S532G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> G (in dbSNP:rs2697532). {ECO:0000269|PubMed:11322959, ECO:0000269|PubMed:15489334}.		calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCGCGTGAGCGCCACAGA	0.682													G|||	939	0.1875	0.1339	0.1931	5008	,	,		10582	0.1855		0.2863	False		,,,				2504	0.1564																0													35	38	37					5																	140563728		1856	3453	5309	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1594A>G	5.37:g.140563728A>G	ENSP00000354293:p.Ser532Gly		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S532G	ENST00000361016.2	37	c.1594	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	N	0.027	-1.361903	0.01235	.	.	ENSG00000196963	ENST00000361016	T	0.01804	4.63	4.26	-1.08	0.09936	Cadherin (5);Cadherin-like (1);	0.236103	0.21995	N	0.066089	T	0.00967	0.0032	N	0.25201	0.72	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	9	0.02654	T	1	.	3.6001	0.08021	0.2321:0.5022:0.139:0.1267	rs61743494	532	Q9NRJ7	PCDBG_HUMAN	G	532	ENSP00000354293:S532G	ENSP00000354293:S532G	S	+	1	0	PCDHB16	140543912	0.000000	0.05858	0.984000	0.44739	0.358000	0.29455	-1.167000	0.03126	-0.365000	0.08076	-0.204000	0.12730	AGC	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	A	NM_020957		140563728	1	no_errors	ENST00000361016	ensembl	human	known	70_37	missense	SNP	0.015	G	G	140563728	A	G	140563728	3	3	120	1	0	0	0	0	1	0	0	0	11565	304	11	5	1596	5	PCDHB16	5	140563728	Missense_Mutation	SNP	A	TCGA-EX-A1H5-01A-31D-A13W-08	341589	140563728	40351532	22	19171										
DDX41	51428	genome.wustl.edu	37	chr5	176938929	176938929	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gaaggcacagccgcgctctcCtgggggaatggggacagggg	19	10	1	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr5:176938929C>A	ENST00000507955.1	-	17	2256		c.e17-1		DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCGCGCTCTCCTGGGGGAATG	0.637																																																	0													42	45	44					5																	176938929		2203	4300	6503	SO:0001630	splice_region_variant	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1733-1G>T	5.37:g.176938929C>A			B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	-	e17-1	ENST00000507955.1	37	c.1733-1	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637454	0.87760	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176871535	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.306000	0.78905	2.724000	0.93272	0.655000	0.94253	.	DDX41	-	-		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222	Intron	176938929	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	176938929	C	A	176938929	5	1	120	1	0	0	0	0	0	0	1	0	4366	695	24	4	140	4	DDX41	5	176938929	Splice_Site	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	36375201	176938929	3976331	23	19172										
HLA-DMB	3109	genome.wustl.edu	37	chr6	32905075	32905075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ccagtctccattgggctgggCagtcttgtgcgcactgctgt	13	12	2	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr6:32905075C>A	ENST00000418107.2	-	3	758	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.A166S	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	166	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.A166S(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGGCTGGGCAGTCTTGTGC	0.562																																																	4	Substitution - Missense(4)	cervix(2)|prostate(2)											172	128	143					6																	32905075		2203	4300	6503	SO:0001583	missense	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.496G>T	6.37:g.32905075C>A	ENSP00000398890:p.Ala166Ser		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.A166S	ENST00000418107.2	37	c.496	CCDS4760.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870109|1.870109	0.33069|0.33069	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244|ENST00000414017	T;T;T|.	0.13538|.	2.58;6.28;6.28|.	4.56|4.56	0.722|0.722	0.18225|0.18225	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	1.327040|.	0.04955|.	N|.	0.460905|.	T|T	0.09158|0.09158	0.0226|0.0226	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B;P|.	0.38020|.	0.06;0.428;0.086;0.038;0.615|.	B;P;B;B;P|.	0.50970|.	0.155;0.578;0.222;0.405;0.655|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.87932|.	D|.	0|.	.|.	3.4002|3.4002	0.07320|0.07320	0.18:0.5253:0.0:0.2947|0.18:0.5253:0.0:0.2947	.|.	166;166;48;55;166|.	E9PD01;A2AAT3;B0V061;B0V062;P28068|.	.;.;.;.;DMB_HUMAN|.	S|F	48;166;166;166|55	ENSP00000390848:A48S;ENSP00000398890:A166S;ENSP00000391010:A166S|.	ENSP00000391010:A166S|.	A|C	-|-	1|2	0|0	HLA-DMB|HLA-DMB	33013053|33013053	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.307000|0.307000	0.27823|0.27823	-0.689000|-0.689000	0.05144|0.05144	0.012000|0.012000	0.14892|0.14892	-0.477000|-0.477000	0.04895|0.04895	GCC|TGC	HLA-DMB	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.562	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	C	NM_002118		32905075	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	missense	SNP	0.001	A	A	32905075	C	A	32905075	3	1	120	1	0	0	0	0	1	0	0	0	7219	710	25	4	311	4	HLA-DMB	6	32905075	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		32905075	138209992	24	19173										
COL11A2	1302	genome.wustl.edu	37	chr6	33148097	33148097	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tgatccagggagccctgctcGgccaggggggccctggagtg	18	12	0	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr6:33148097G>A	ENST00000374708.4	-	10	1297	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R407*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R386*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R373*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.R433*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R412*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R352*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R326*|COL11A2_ENST00000477772.1_5'Flank	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	433	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R433*(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGCCCTGCTCGGCCAGGGGGG	0.527																																					Melanoma(1;90 116 3946 5341 17093)												1	Substitution - Nonsense(1)	cervix(1)											52	61	58					6																	33148097		1508	2708	4216	SO:0001587	stop_gained	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1039C>T	6.37:g.33148097G>A	ENSP00000363840:p.Arg347*		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R433*	ENST00000374708.4	37	c.1297	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.544840	0.98348	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	.	.	.	4.21	3.31	0.37934	.	0.255608	0.28647	N	0.014605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2763	0.37700	0.0:0.0:0.7848:0.2152	.	.	.	.	X	347;433;412;407;386;373;352;326;433	.	ENSP00000339915:R433X	R	-	1	2	COL11A2	33256075	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.101000	0.50283	1.090000	0.41315	0.549000	0.68633	CGA	COL11A2	-	pfam_Collagen		0.527	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	G			33148097	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	33148097	G	A	33148097	4	1	120	1	0	0	0	0	0	1	0	0	3673	1124	39	2	4133	2	COL11A2	6	33148097	Nonsense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	243022	33148097	137966970	25	19174										
EYS	346007	genome.wustl.edu	37	chr6	66044995	66044998	+	Frame_Shift_Del	DEL	CTGA	CTGA	-													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	aaacatagataccgatattcCtgactgtcttcttcactcaa							TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	CTGA	CTGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr6:66044995_66044998delCTGA	ENST00000370621.3	-	11	2167_2170	c.1641_1644delTCAG	c.(1639-1644)agtcagfs	p.SQ547fs	EYS_ENST00000342421.5_Frame_Shift_Del_p.SQ547fs|EYS_ENST00000503581.1_Frame_Shift_Del_p.SQ547fs|EYS_ENST00000393380.2_Frame_Shift_Del_p.SQ547fs|EYS_ENST00000370616.2_Frame_Shift_Del_p.SQ547fs|EYS_ENST00000370618.3_Frame_Shift_Del_p.SQ547fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	547					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q548*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACCGATATTCCTGACTGTCTTCTT	0.353																																																	2	Substitution - Nonsense(2)	lung(2)																																								SO:0001589	frameshift_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1641_1644delTCAG	6.37:g.66044995_66044998delCTGA	ENSP00000359655:p.Ser547fs		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S547fs	ENST00000370621.3	37	c.1644_1641		6																																																																																			EYS	-	NULL		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	CTGA	XM_294050		66044998	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000	-	-	66044998	CTGA	-	66044995	7	5	120	1	0	1	0	1	0	0	0	0	5344	680	24	0	7884	0	EYS	6	66044995	Frame_Shift_Del	DEL	CTGA	TCGA-EX-A1H5-01A-31D-A13W-08	32896898	66044995	105070072	26	19175										
KPNA5	3841	genome.wustl.edu	37	chr6	117053428	117053428	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tgtacctcaggtggatgaaaAccaacaacagtttatatttc	7	8	1	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr6:117053428A>T	ENST00000368564.1	+	14	1710	c.1562A>T	c.(1561-1563)aAc>aTc	p.N521I	KPNA5_ENST00000356348.1_Missense_Mutation_p.N521I			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	518					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GTGGATGAAAACCAACAACAG	0.373																																																	0													99	97	98					6																	117053428		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1562A>T	6.37:g.117053428A>T	ENSP00000357552:p.Asn521Ile		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N521I	ENST00000368564.1	37	c.1562	CCDS5111.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.51|12.51	1.960541|1.960541	0.34565|0.34565	.|.	.|.	ENSG00000196911|ENSG00000196911	ENST00000392517|ENST00000368564;ENST00000356348	.|T;T	.|0.29397	.|1.57;1.57	5.73|5.73	0.775|0.775	0.18527|0.18527	.|.	.|0.432276	.|0.23746	.|N	.|0.044962	T|T	0.05364|0.05364	0.0142|0.0142	N|N	0.14661|0.14661	0.345|0.345	0.24350|0.24350	N|N	0.994923|0.994923	.|B	.|0.25719	.|0.132	.|B	.|0.23716	.|0.048	T|T	0.33675|0.33675	-0.9859|-0.9859	5|10	.|0.41790	.|T	.|0.15	.|.	6.5368|6.5368	0.22359|0.22359	0.4974:0.1311:0.3715:0.0|0.4974:0.1311:0.3715:0.0	.|.	.|518	.|O15131	.|IMA5_HUMAN	N|I	103|521	.|ENSP00000357552:N521I;ENSP00000348704:N521I	.|ENSP00000348704:N521I	K|N	+|+	3|2	2|0	KPNA5|KPNA5	117160121|117160121	0.007000|0.007000	0.16637|0.16637	0.946000|0.946000	0.38457|0.38457	0.987000|0.987000	0.75469|0.75469	-0.063000|-0.063000	0.11655|0.11655	-0.082000|-0.082000	0.12640|0.12640	-0.250000|-0.250000	0.11733|0.11733	AAA|AAC	KPNA5	-	NULL		0.373	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	A	NM_002269		117053428	1	no_errors	ENST00000356348	ensembl	human	known	70_37	missense	SNP	0.939	T	T	117053428	A	T	117053428	3	4	120	1	0	0	0	0	1	0	0	0	8453	43	2	5	1616	5	KPNA5	6	117053428	Missense_Mutation	SNP	A	TCGA-EX-A1H5-01A-31D-A13W-08	51008433	117053428	54061639	27	19176										
L3MBTL3	84456	genome.wustl.edu	37	chr6	130399706	130399706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	atttgtgtaactttcaggtgTgaagcatcaagtccacatat	8	7	2	1	rs535706193	byFrequency	TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr6:130399706T>C	ENST00000529410.1	+	16	1727	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	L3MBTL3_ENST00000361794.2_Silent_p.C416C|L3MBTL3_ENST00000526019.1_Silent_p.C391C|L3MBTL3_ENST00000368136.2_Silent_p.C416C|L3MBTL3_ENST00000533560.1_Silent_p.C391C|L3MBTL3_ENST00000368139.2_Silent_p.C391C			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	416					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C416C(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTTTCAGGTGTGAAGCATCAA	0.338													T|||	6	0.00119808	0	0	5008	,	,		16968	0		0	False		,,,				2504	0.0061																1	Substitution - coding silent(1)	cervix(1)											151	147	149					6																	130399706		2203	4300	6503	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1248T>C	6.37:g.130399706T>C			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.C416	ENST00000529410.1	37	c.1248	CCDS34537.1	6																																																																																			L3MBTL3	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.338	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	T	XM_027074		130399706	1	no_errors	ENST00000361794	ensembl	human	known	70_37	silent	SNP	1.000	C	C	130399706	T	C	130399706	2	2	120	1	0	0	0	0	0	0	0	1	8613	1702	59	5		5	L3MBTL3	6	130399706	Silent	SNP	T	TCGA-EX-A1H5-01A-31D-A13W-08	13346278	130399706	40715361	28	19177										
PTPN12	5782	genome.wustl.edu	37	chr7	77267950	77267950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttgctacttagatcatccagCgggaggtattcactatgaaa	9	8	2	2	rs377606271		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr7:77267950C>T	ENST00000248594.6	+	17	2455	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V	PTPN12_ENST00000435495.2_Missense_Mutation_p.A598V|PTPN12_ENST00000415482.2_Missense_Mutation_p.A609V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	728					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.A728V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GATCATCCAGCGGGAGGTATT	0.358																																																	1	Substitution - Missense(1)	cervix(1)						T	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	105	106	106		1826,1793,2183	1.5	0.1	7		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PTPN12	NM_001131008.1,NM_001131009.1,NM_002835.3	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	609/662,598/651,728/781	77267950	1,13005	2203	4300	6503	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2183C>T	7.37:g.77267950C>T	ENSP00000248594:p.Ala728Val		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A728V	ENST00000248594.6	37	c.2183	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	c	0.025	-1.384535	0.01194	0.0	1.16E-4	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495;ENST00000407343	T;T;T;T	0.28666	3.88;3.29;3.29;1.6	5.5	1.48	0.22813	.	1.065310	0.07224	N	0.861328	T	0.22003	0.0530	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31194	-0.9952	10	0.15952	T	0.53	.	3.6874	0.08334	0.2298:0.5105:0.0:0.2597	.	728	Q05209	PTN12_HUMAN	V	728;609;598;210	ENSP00000248594:A728V;ENSP00000392429:A609V;ENSP00000397991:A598V;ENSP00000385079:A210V	ENSP00000248594:A728V	A	+	2	0	PTPN12	77105886	0.002000	0.14202	0.100000	0.21137	0.001000	0.01503	0.240000	0.18042	0.818000	0.34468	-1.041000	0.02371	GCG	PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12		0.358	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	C			77267950	1	no_errors	ENST00000248594	ensembl	human	known	70_37	missense	SNP	0.009	T	T	77267950	C	T	77267950	3	4	120	1	0	0	0	0	1	0	0	0	12809	768	27	2	2249	2	PTPN12	7	77267950	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		77267950	81870713	29	19178										
FAM86B2	653333	genome.wustl.edu	37	chr8	12286158	12286158	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttacctgctgcaatgacaacAtctggctggaaggcagagag	12	9	1	2	rs7844327	byFrequency	TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr8:12286158A>T	ENST00000262365.4	-	6	725	c.726T>A	c.(724-726)gaT>gaA	p.D242E	FAM86B2_ENST00000351291.4_Missense_Mutation_p.D208E|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	242										endometrium(1)|kidney(2)	3						CAATGACAACATCTGGCTGGA	0.587																																																	0																																										SO:0001583	missense	653333				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.726T>A	8.37:g.12286158A>T	ENSP00000262365:p.Asp242Glu			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.D242E	ENST00000262365.4	37	c.726	CCDS59092.1	8	.	.	.	.	.	.	.	.	.	.	a	13.43	2.233745	0.39498	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000527331	T;T;T	0.51574	0.7;0.7;0.7	1.16	-1.35	0.09114	.	.	.	.	.	T	0.62865	0.2463	M	0.83118	2.625	0.42913	D	0.994265	D	0.89917	1.0	D	0.87578	0.998	T	0.60667	-0.7218	9	0.54805	T	0.06	.	5.181	0.15160	0.6278:0.0:0.3722:0.0	.	242	P0C5J1	F86B2_HUMAN	E	242;208;208	ENSP00000262365:D242E;ENSP00000283479:D208E;ENSP00000432491:D208E	ENSP00000262365:D242E	D	-	3	2	FAM86B2	12330529	0.001000	0.12720	0.056000	0.19401	0.160000	0.22226	-0.344000	0.07780	-0.397000	0.07691	0.136000	0.15936	GAT	FAM86B2	-	pfam_Nicotinamide_N-MeTfrase-like		0.587	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	HGNC	protein_coding		A	XM_928336		12286158	-1	no_errors	ENST00000262365	ensembl	human	known	70_37	missense	SNP	0.361	T	T	12286158	A	T	12286158	3	4	120	1	0	0	0	0	1	0	0	0	5663	214	8	5	278	5	FAM86B2	8	12286158	Missense_Mutation	SNP	A	TCGA-EX-A1H5-01A-31D-A13W-08		12286158	134077864	30	19179										
BAI1	575	genome.wustl.edu	37	chr8	143614774	143614774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	agatcctcttcgctgtcttcGactcgctggagggcttcgtc	11	13	2	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr8:143614774G>A	ENST00000517894.1	+	25	4411	c.3517G>A	c.(3517-3519)Gac>Aac	p.D1173N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1173N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1173					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D1173N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCTGTCTTCGACTCGCTGGA	0.672																																																	1	Substitution - Missense(1)	cervix(1)											35	44	41					8																	143614774		2196	4290	6486	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3517G>A	8.37:g.143614774G>A	ENSP00000430945:p.Asp1173Asn			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D1173N	ENST00000517894.1	37	c.3517		8	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517841	0.64634	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39406	1.08;1.08	4.56	3.65	0.41850	.	0.064020	0.64402	U	0.000011	T	0.21227	0.0511	N	0.00102	-2.13	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.44360	-0.9333	10	0.06494	T	0.89	.	13.6407	0.62249	0.0:0.1567:0.8433:0.0	.	1173	E9PBK0	.	N	1173	ENSP00000430945:D1173N;ENSP00000313046:D1173N	ENSP00000313046:D1173N	D	+	1	0	BAI1	143611776	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	4.566000	0.60843	0.980000	0.38523	0.655000	0.94253	GAC	BAI1	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143614774	1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	143614774	G	A	143614774	3	1	120	1	0	0	0	0	1	0	0	0	1299	1058	37	1	3611	1	BAI1	8	143614774	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	131328616	143614774	2749248	31	19180										
RGP1	692094	genome.wustl.edu	37	chr9	35752745	35752745	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cagcccgaacctaccacctgGacaggacctgagcaagtacc	9	16	0	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr9:35752745G>A	ENST00000436428.2	-	0	670				MSMP_ENST00000414286.1_5'Flank|RGP1_ENST00000378078.4_Nonsense_Mutation_p.W350*|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Nonsense_Mutation_p.W390*	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.W390*(1)|p.W350*(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CTACCACCTGGACAGGACCTG	0.557																																																	2	Substitution - Nonsense(2)	cervix(2)											64	61	62					9																	35752745		1962	4154	6116	SO:0001628	intergenic_variant	9827			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752745G>A				Nonsense_Mutation	SNP	pfam_Rgp1	p.W390*	ENST00000436428.2	37	c.1170	CCDS43797.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465089	0.84425	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3942	19.3249	0.94258	0.0:0.0:1.0:0.0	.	.	.	.	X	390;350	.	ENSP00000367318:W350X	W	+	3	0	RGP1	35742745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.442000	0.90317	2.805000	0.96524	0.655000	0.94253	TGG	RGP1	-	NULL		0.557	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000052384.2	G	NM_001044264		35752745	1	no_errors	ENST00000456972	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	35752745	G	A	35752745	1	1	120	0	1	0	0	0	0	0	0	0	13314	1183	41	1		1	RGP1	9	35752745	IGR	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08		35752745	105460686	32	19181										
RECK	8434	genome.wustl.edu	37	chr9	36117064	36117064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	agtgtgtaccaagacagctcGcgtgtgaccaggtccaagat	12	10	0	3	rs142114378		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr9:36117064G>A	ENST00000377966.3	+	17	2709	c.2143G>A	c.(2143-2145)Gcg>Acg	p.A715T		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	715	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A715T(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAGACAGCTCGCGTGTGACCA	0.458																																																	1	Substitution - Missense(1)	cervix(1)						G	THR/ALA	0,4406		0,0,2203	171	150	157		2143	-0.1	0.5	9	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense	RECK	NM_021111.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	715/972	36117064	1,13005	2203	4300	6503	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2143G>A	9.37:g.36117064G>A	ENSP00000367202:p.Ala715Thr		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal	p.A715T	ENST00000377966.3	37	c.2143	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	G	0.232	-1.020125	0.02078	0.0	1.16E-4	ENSG00000122707	ENST00000377966	T	0.42900	0.96	5.91	-0.0732	0.13736	Proteinase inhibitor I1, Kazal (1);	0.639785	0.16643	N	0.205522	T	0.10035	0.0246	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36553	-0.9743	10	0.02654	T	1	-1.7436	7.5055	0.27542	0.7548:0.0:0.109:0.1362	.	715;715	A8K9D8;O95980	.;RECK_HUMAN	T	715	ENSP00000367202:A715T	ENSP00000367202:A715T	A	+	1	0	RECK	36107064	0.000000	0.05858	0.463000	0.27130	0.389000	0.30415	0.524000	0.22940	-0.217000	0.10033	-0.700000	0.03674	GCG	RECK	-	smart_Prot_inh_Kazal		0.458	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	G			36117064	1	no_errors	ENST00000377966	ensembl	human	known	70_37	missense	SNP	0.030	A	A	36117064	G	A	36117064	3	1	120	1	0	0	0	0	1	0	0	0	13230	1087	38	2	2209	2	RECK	9	36117064	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	364319	36117064	105096367	33	19182										
SEC61A2	55176	genome.wustl.edu	37	chr10	12198972	12198972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	caccaggacggacaaagtccGagctttacgggaggcttttt	12	10	0	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr10:12198972G>A	ENST00000298428.9	+	8	772	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	SEC61A2_ENST00000379020.4_Missense_Mutation_p.R228Q|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.R206Q|SEC61A2_ENST00000304267.8_Missense_Mutation_p.R228Q	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	228					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.R228Q(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GACAAAGTCCGAGCTTTACGG	0.443																																																	2	Substitution - Missense(2)	cervix(2)											190	177	181					10																	12198972		2203	4300	6503	SO:0001583	missense	55176			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.683G>A	10.37:g.12198972G>A	ENSP00000298428:p.Arg228Gln		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.R228Q	ENST00000298428.9	37	c.683	CCDS7088.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.755200	0.96898	.	.	ENSG00000065665	ENST00000379033;ENST00000441368;ENST00000298428;ENST00000304267;ENST00000379020	.	.	.	6.07	6.07	0.98685	SecY subunit domain (2);	0.000000	0.56097	D	0.000025	T	0.68274	0.2983	M	0.84948	2.725	0.80722	D	1	B;P;P	0.50943	0.161;0.848;0.94	B;B;B	0.41036	0.131;0.346;0.342	T	0.69727	-0.5067	9	0.25751	T	0.34	-4.7081	19.6321	0.95713	0.0:0.0:1.0:0.0	.	206;228;228	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	Q	206;140;228;228;228	.	ENSP00000298428:R228Q	R	+	2	0	SEC61A2	12238978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.884000	0.98904	0.655000	0.94253	CGA	SEC61A2	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha		0.443	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	G	NM_018144		12198972	1	no_errors	ENST00000298428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12198972	G	A	12198972	3	1	120	1	0	0	0	0	1	0	0	0	14031	1058	37	1	713	1	SEC61A2	10	12198972	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08		12198972	123335775	34	19183										
ANKRD30A	91074	genome.wustl.edu	37	chr10	37508593	37508594	+	Frame_Shift_Ins	INS	-	-	AG													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cacactgaacagcaggagtcINStctagatcagaaattatttc							TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr10:37508593_37508594insAG	ENST00000602533.1	+	34	3884_3885	c.3785_3786insAG	c.(3784-3789)tctctafs	p.L1263fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Ins_p.L1263fs|ANKRD30A_ENST00000374660.1_Frame_Shift_Ins_p.L1382fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1319					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAGCAGGAGTCTCTAGATCAGA	0.361																																																	0																																										SO:0001589	frameshift_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	Exception_encountered	10.37:g.37508593_37508594insAG	ENSP00000473551:p.Leu1263fs		Q5W025	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1263fs	ENST00000602533.1	37	c.3785_3786		10																																																																																			ANKRD30A	-	NULL		0.361	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	NM_052997		37508594	1	no_errors	ENST00000361713	ensembl	human	known	70_37	frame_shift_ins	INS	0.003:0.000	AG	AG	37508594	-	AG	37508593	7	5	120	1	0	1	1	0	0	0	0	0	658	913	32	0	3919	0	ANKRD30A	10	37508593	Frame_Shift_Ins	INS	-	TCGA-EX-A1H5-01A-31D-A13W-08	25309621	37508593	98026154	35	19184										
ZNF33A	7581	genome.wustl.edu	37	chr10	38343652	38343652	+	Silent	SNP	G	G	A													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttgaaaaataggaacacactGagtcatcatgaggagacttt							TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr10:38343652G>A	ENST00000458705.2	+	5	755	c.597G>A	c.(595-597)ctG>ctA	p.L199L	ZNF33A_ENST00000432900.2_Silent_p.L206L|ZNF33A_ENST00000307441.9_Silent_p.L199L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Silent_p.L200L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L199L(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAACACACTGAGTCATCATG	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											78	77	78					10																	38343652		2203	4300	6503	SO:0001819	synonymous_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.597G>A	10.37:g.38343652G>A			A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L206	ENST00000458705.2	37	c.618	CCDS31182.1	10																																																																																			ZNF33A	-	NULL		0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	G	NM_006974		38343652	1	no_errors	ENST00000432900	ensembl	human	known	70_37	silent	SNP	0.000	A	A	38343652	G	A	38343652	2	1	120	1	0	0	0	0	0	0	0	1	17884	1277	45	1		1	ZNF33A	10	38343652	Silent	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	835059	38343652	97191095	36	19185	113	2								
ZNF33A	7581	genome.wustl.edu	37	chr10	38343662	38343662	+	Missense_Mutation	SNP	G	G	A													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ggaacacactgagtcatcatGaggagactttgcagcatgag							TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr10:38343662G>A	ENST00000458705.2	+	5	765	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ZNF33A_ENST00000432900.2_Missense_Mutation_p.E210K|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E203K|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.E204K			Q06730	ZN33A_HUMAN	zinc finger protein 33A	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E203K(1)|p.E203Q(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAGTCATCATGAGGAGACTTT	0.348																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											80	79	80					10																	38343662		2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.607G>A	10.37:g.38343662G>A	ENSP00000387713:p.Glu203Lys		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E210K	ENST00000458705.2	37	c.628	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061788	0.19987	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	1.68	1.68	0.24146	.	0.676432	0.12138	N	0.496083	T	0.10981	0.0268	L	0.50333	1.59	0.09310	N	1	D;D;P	0.58620	0.973;0.983;0.909	P;P;P	0.51016	0.64;0.656;0.48	T	0.18681	-1.0329	10	0.49607	T	0.09	.	9.3384	0.38065	0.0:0.0:1.0:0.0	.	210;203;204	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	K	204;210;203;203	ENSP00000363747:E204K;ENSP00000402467:E210K;ENSP00000387713:E203K;ENSP00000304268:E203K	ENSP00000304268:E203K	E	+	1	0	ZNF33A	38383668	.	.	0.017000	0.16124	0.006000	0.05464	.	.	1.239000	0.43787	0.460000	0.39030	GAG	ZNF33A	-	NULL		0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	G	NM_006974		38343662	1	no_errors	ENST00000432900	ensembl	human	known	70_37	missense	SNP	0.005	A	A	38343662	G	A	38343662	3	1	120	1	0	0	0	0	1	0	0	0	17884	1291	45	1	624	1	ZNF33A	10	38343662	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	10	38343662	97191085	37	19186	113	2								
KRTAP5-3	387266	genome.wustl.edu	37	chr11	1629043	1629043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ctggactgggaacagcagggTttgcagcagctggactggca	16	9	0	0	rs12795274		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr11:1629043T>C	ENST00000399685.1	-	1	650	c.573A>G	c.(571-573)aaA>aaG	p.K191K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	191	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		aacagcagggtttgcagcagc	0.632																																																	0													167	168	168					11																	1629043		2202	4290	6492	SO:0001819	synonymous_variant	387266			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.573A>G	11.37:g.1629043T>C			Q6PL44|Q701N3	Silent	SNP	NULL	p.K191	ENST00000399685.1	37	c.573	CCDS41591.1	11																																																																																			KRTAP5-3	-	NULL		0.632	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	HGNC	protein_coding	OTTHUMT00000127924.1	T			1629043	-1	no_errors	ENST00000399685	ensembl	human	known	70_37	silent	SNP	0.000	C	C	1629043	T	C	1629043	2	2	120	1	0	0	0	0	0	0	0	1	8582	1722	60	5		5	KRTAP5-3	11	1629043	Silent	SNP	T	TCGA-EX-A1H5-01A-31D-A13W-08		1629043	133377473	38	19187										
MUC15	143662	genome.wustl.edu	37	chr11	26587073	26587074	+	Frame_Shift_Ins	INS	-	-	T													0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	aaacaaagctatggatcaagINSggagggcttgtggaaatggt					rs267602835		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr11:26587073_26587074insT	ENST00000455601.2	-	2	450_451	c.332_333insA	c.(331-333)cccfs	p.P111fs	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Frame_Shift_Ins_p.P138fs|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Frame_Shift_Ins_p.P138fs|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Frame_Shift_Ins_p.P138fs|MUC15_ENST00000529533.1_Frame_Shift_Ins_p.P138fs	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	111					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TATGGATCAAGGGAGGGCTTGT	0.46																																																	0																																										SO:0001589	frameshift_variant	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.332_333insA	11.37:g.26587073_26587074insT	ENSP00000397339:p.Pro111fs		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Frame_Shift_Ins	INS	NULL	p.I140fs	ENST00000455601.2	37	c.414_413	CCDS7859.1	11																																																																																			MUC15	-	NULL		0.46	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	NM_145650		26587074	-1	no_errors	ENST00000436318	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.038	T	T	26587074	-	T	26587073	7	5	120	1	0	1	1	0	0	0	0	0	9995	987	35	0	683	0	MUC15	11	26587073	Frame_Shift_Ins	INS	-	TCGA-EX-A1H5-01A-31D-A13W-08	24958030	26587073	108419443	39	19188										
LRRN4CL	221091	genome.wustl.edu	37	chr11	62455621	62455621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttctgcgcagcctcgctgccGtcccaaagcagcagccagta	10	16	1	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr11:62455621G>A	ENST00000317449.4	-	2	837	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	120	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)		p.D120D(1)		cervix(1)|kidney(1)	2						CCTCGCTGCCGTCCCAAAGCA	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											12	14	13					11																	62455621		2121	4166	6287	SO:0001819	synonymous_variant	221091			AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"Fibronectin type III domain containing"	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.360C>T	11.37:g.62455621G>A			A8K5L9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D120	ENST00000317449.4	37	c.360	CCDS8030.1	11																																																																																			LRRN4CL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.657	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4CL	HGNC	protein_coding	OTTHUMT00000395168.1	G	NM_203422		62455621	-1	no_errors	ENST00000317449	ensembl	human	known	70_37	silent	SNP	0.793	A	A	62455621	G	A	62455621	2	1	120	1	0	0	0	0	0	0	0	1	9061	1136	40	2		2	LRRN4CL	11	62455621	Silent	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	35868548	62455621	72550895	40	19189										
GALNT8	26290	genome.wustl.edu	37	chr12	4870147	4870147	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tggcagtgtggagggaaggtCgagattttgccctgttcccg	16	8	0	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr12:4870147C>T	ENST00000252318.2	+	7	1534	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	399	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V399V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGGAAGGTCGAGATTTTGC	0.522																																					Colon(108;631 1558 7270 20097 39846)												1	Substitution - coding silent(1)	cervix(1)											179	148	159					12																	4870147		2203	4300	6503	SO:0001819	synonymous_variant	26290			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1197C>T	12.37:g.4870147C>T			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V399	ENST00000252318.2	37	c.1197	CCDS8533.1	12																																																																																			GALNT8	-	NULL		0.522	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	C	NM_017417		4870147	1	no_errors	ENST00000252318	ensembl	human	known	70_37	silent	SNP	0.000	T	T	4870147	C	T	4870147	2	4	120	1	0	0	0	0	0	0	0	1	6238	871	31	1		1	GALNT8	12	4870147	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		4870147	128981748	41	19190										
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1810463	1810463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	aggaggtgctgaggggcgagTtggaggctgctaagcaggcc	20	7	0	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr16:1810463T>C	ENST00000250894.4	+	12	1541	c.1384T>C	c.(1384-1386)Ttg>Ctg	p.L462L	MAPK8IP3_ENST00000356010.5_Silent_p.L456L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	462					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.L462L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAGGGGCGAGTTGGAGGCTGC	0.532																																																	1	Substitution - coding silent(1)	cervix(1)											96	108	104					16																	1810463		2098	4212	6310	SO:0001819	synonymous_variant	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1384T>C	16.37:g.1810463T>C			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.L462	ENST00000250894.4	37	c.1384	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL		0.532	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	T	NM_001040439		1810463	1	no_errors	ENST00000250894	ensembl	human	known	70_37	silent	SNP	0.997	C	C	1810463	T	C	1810463	2	2	120	1	0	0	0	0	0	0	0	1	9309	1722	60	5		5	MAPK8IP3	16	1810463	Silent	SNP	T	TCGA-EX-A1H5-01A-31D-A13W-08		1810463	88544290	42	19191										
AARS	16	genome.wustl.edu	37	chr16	70303578	70303578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gtgccacagtgatggtccgaGcgtggtcagccagcacccgg	15	13	1	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr16:70303578G>A	ENST00000261772.8	-	7	1048	c.905C>T	c.(904-906)gCt>gTt	p.A302V		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.A302V(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GATGGTCCGAGCGTGGTCAGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											196	163	174					16																	70303578		2198	4300	6498	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.905C>T	16.37:g.70303578G>A	ENSP00000261772:p.Ala302Val			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc	p.A302V	ENST00000261772.8	37	c.905	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772832	0.31411	.	.	ENSG00000090861	ENST00000261772	T	0.70399	-0.48	5.67	5.67	0.87782	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.046775	0.85682	D	0.000000	T	0.73171	0.3553	L	0.42744	1.35	0.80722	D	1	P;P	0.39737	0.685;0.537	P;P	0.50049	0.629;0.479	T	0.66948	-0.5794	10	0.21540	T	0.41	-18.5474	17.2644	0.87081	0.0:0.0:1.0:0.0	.	310;302	E7ETK8;P49588	.;SYAC_HUMAN	V	302	ENSP00000261772:A302V	ENSP00000261772:A302V	A	-	2	0	AARS	68861079	1.000000	0.71417	0.853000	0.33588	0.942000	0.58702	5.749000	0.68704	2.697000	0.92050	0.655000	0.94253	GCT	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc		0.597	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	G	NM_001605		70303578	-1	no_errors	ENST00000261772	ensembl	human	known	70_37	missense	SNP	0.999	A	A	70303578	G	A	70303578	3	1	120	1	0	0	0	0	1	0	0	0	19	971	34	4	2061	4	AARS	16	70303578	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	68493115	70303578	20051175	43	19192										
TMEM132E	124842	genome.wustl.edu	37	chr17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tcaccagccagtcagtcaagCggaggatcatgtggcacatt	11	11	4	0	rs371393529		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr17:32956104C>T	ENST00000321639.5	+	5	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	317						integral component of membrane (GO:0016021)		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612																																																	1	Substitution - Missense(1)	cervix(1)							TRP/ARG	0,4406		0,0,2203	100	93	95		949	3.5	1	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/985	32956104	1,13005	2203	4300	6503	SO:0001583	missense	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.949C>T	17.37:g.32956104C>T	ENSP00000316532:p.Arg317Trp		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	NULL	p.R317W	ENST00000321639.5	37	c.949	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187608	0.38609	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.19532	2.14	4.51	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.65975	2.015	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.72032	D	0.01	-29.8251	11.4588	0.50197	0.3265:0.6735:0.0:0.0	.	317	Q6IEE7	T132E_HUMAN	W	317	ENSP00000316532:R317W	ENSP00000316532:R317W	R	+	1	2	TMEM132E	29980217	0.995000	0.38212	0.984000	0.44739	0.044000	0.14063	1.296000	0.33389	1.236000	0.43740	0.447000	0.29281	CGG	TMEM132E	-	NULL		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	C	NM_207313		32956104	1	no_errors	ENST00000321639	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32956104	C	T	32956104	3	4	120	1	0	0	0	0	1	0	0	0	16078	759	27	2	967	2	TMEM132E	17	32956104	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		32956104	48239106	44	19193										
WDR7	23335	genome.wustl.edu	37	chr18	54605881	54605881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttgaaattcttattgaaaagAtgcccacagatgttgtggat	9	5	1	4			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr18:54605881A>G	ENST00000254442.3	+	24	4160	c.3949A>G	c.(3949-3951)Atg>Gtg	p.M1317V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.M1284V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1317					hematopoietic progenitor cell differentiation (GO:0002244)			p.M1317V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TATTGAAAAGATGCCCACAGA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											93	88	90					18																	54605881		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3949A>G	18.37:g.54605881A>G	ENSP00000254442:p.Met1317Val		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1317V	ENST00000254442.3	37	c.3949	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421491	0.83559	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.17213	2.29;2.29	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.57536	1.79	0.58432	D	0.999999	P;P	0.43578	0.811;0.713	P;P	0.60789	0.879;0.761	T	0.01460	-1.1349	10	0.38643	T	0.18	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	1284;1317	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1317;1284;642;1284	ENSP00000254442:M1317V;ENSP00000350187:M1284V	ENSP00000254442:M1317V	M	+	1	0	WDR7	52756879	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.118000	0.94355	2.291000	0.77112	0.533000	0.62120	ATG	WDR7	-	superfamily_ARM-type_fold		0.353	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	A			54605881	1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54605881	A	G	54605881	3	3	120	1	0	0	0	0	1	0	0	0	17351	333	12	5	4039	5	WDR7	18	54605881	Missense_Mutation	SNP	A	TCGA-EX-A1H5-01A-31D-A13W-08		54605881	23471367	45	19194										
CDH20	28316	genome.wustl.edu	37	chr18	59166539	59166539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	tccacgccattcagaggctcGaccgagaggaaagagcccag	12	13	1	3			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr18:59166539G>A	ENST00000262717.4	+	3	765	c.367G>A	c.(367-369)Gac>Aac	p.D123N	CDH20_ENST00000536675.2_Missense_Mutation_p.D123N|CDH20_ENST00000538374.1_Missense_Mutation_p.D123N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D123N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAGAGGCTCGACCGAGAGGA	0.547																																																	1	Substitution - Missense(1)	cervix(1)											62	51	55					18																	59166539		2203	4300	6503	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.367G>A	18.37:g.59166539G>A	ENSP00000262717:p.Asp123Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D123N	ENST00000262717.4	37	c.367	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.445026	0.96187	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.63417	-0.04;-0.04;-0.04	5.82	5.82	0.92795	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93532	0.6870	10	0.87932	D	0	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	123	Q9HBT6	CAD20_HUMAN	N	123	ENSP00000444767:D123N;ENSP00000442226:D123N;ENSP00000262717:D123N	ENSP00000262717:D123N	D	+	1	0	CDH20	57317519	1.000000	0.71417	0.635000	0.29338	0.896000	0.52359	9.476000	0.97823	2.758000	0.94735	0.650000	0.86243	GAC	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.547	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	G	NM_031891		59166539	1	no_errors	ENST00000262717	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59166539	G	A	59166539	3	1	120	1	0	0	0	0	1	0	0	0	3111	1058	37	1	373	1	CDH20	18	59166539	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	4560658	59166539	18910709	46	19195										
DSEL	92126	genome.wustl.edu	37	chr18	65181691	65181691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ttttcttcagcttttggttgGgtctgaaatcttgcactttc	8	8	4	1	rs200453320		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr18:65181691G>T	ENST00000310045.7	-	2	1658	c.185C>A	c.(184-186)cCc>cAc	p.P62H	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	52					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.P62H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTTGGTTGGGTCTGAAATC	0.373																																																	1	Substitution - Missense(1)	cervix(1)											120	111	114					18																	65181691		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.185C>A	18.37:g.65181691G>T	ENSP00000310565:p.Pro62His		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.P62H	ENST00000310045.7	37	c.185	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857294	0.32791	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22336	1.96	4.54	1.4	0.22301	.	0.346404	0.25944	U	0.027288	T	0.14830	0.0358	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	10	0.52906	T	0.07	-0.0604	7.9167	0.29822	0.0804:0.0:0.6388:0.2808	.	52	Q8IZU8	DSEL_HUMAN	H	62;52	ENSP00000310565:P62H	ENSP00000310565:P62H	P	-	2	0	DSEL	63332671	0.060000	0.20803	0.890000	0.34922	0.991000	0.79684	2.042000	0.41222	0.427000	0.26145	0.561000	0.74099	CCC	DSEL	-	NULL		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	G	NM_032160		65181691	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	0.050	T	T	65181691	G	T	65181691	3	4	120	1	0	0	0	0	1	0	0	0	4785	1232	43	4	3487	4	DSEL	18	65181691	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	6015152	65181691	12895557	47	19196										
MBD3L1	85509	genome.wustl.edu	37	chr19	8953854	8953854	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	agtgaagacagtcagagagaGactcgcaatagcactgattg	12	7	1	5			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr19:8953854G>C	ENST00000595891.1	+	3	731	c.500G>C	c.(499-501)aGa>aCa	p.R167T	MBD3L1_ENST00000305625.2_Missense_Mutation_p.R167T			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R167T(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GTCAGAGAGAGACTCGCAATA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											46	42	43					19																	8953854		2203	4299	6502	SO:0001583	missense	85509			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"methyl-CpG binding domain protein 3-like"	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.500G>C	19.37:g.8953854G>C	ENSP00000471575:p.Arg167Thr		B5BUM6|Q2M291	Missense_Mutation	SNP	NULL	p.R167T	ENST00000595891.1	37	c.500	CCDS12209.1	19	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863095	0.51482	.	.	ENSG00000170948	ENST00000305625	T	0.57595	0.39	3.92	2.88	0.33553	.	0.141960	0.29767	N	0.011253	T	0.61800	0.2376	M	0.81497	2.545	0.40910	D	0.984227	D	0.60575	0.988	P	0.53266	0.722	T	0.66917	-0.5802	10	0.87932	D	0	-8.6954	7.7997	0.29168	0.1139:0.0:0.8861:0.0	.	167	Q8WWY6	MB3L1_HUMAN	T	167	ENSP00000304198:R167T	ENSP00000304198:R167T	R	+	2	0	MBD3L1	8814854	0.961000	0.32948	0.712000	0.30502	0.014000	0.08584	1.827000	0.39102	1.217000	0.43442	0.655000	0.94253	AGA	MBD3L1	-	NULL		0.478	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L1	HGNC	protein_coding	OTTHUMT00000459973.1	G	NM_145208		8953854	1	no_errors	ENST00000305625	ensembl	human	known	70_37	missense	SNP	0.787	C	C	8953854	G	C	8953854	3	2	120	1	0	0	0	0	1	0	0	0	9368	942	33	1	502	1	MBD3L1	19	8953854	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08		8953854	50175129	48	19197										
ZNF493	284443	genome.wustl.edu	37	chr19	21607379	21607379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	aatgtggcaaagcttttaagCggtcctcacacctcgctggg	11	11	1	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr19:21607379C>T	ENST00000355504.4	+	2	1800	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.R640W	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R512W(1)|p.R640W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGCTTTTAAGCGGTCCTCACA	0.388																																																	2	Substitution - Missense(2)	cervix(2)											41	46	45					19																	21607379		2200	4293	6493	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1534C>T	19.37:g.21607379C>T	ENSP00000347691:p.Arg512Trp		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R512W	ENST00000355504.4	37	c.1534	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	2.897	-0.228334	0.06022	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07444	3.19;3.19	0.361	-0.721	0.11189	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	L	0.41710	1.295	0.09310	N	1	B;B	0.16603	0.018;0.015	B;B	0.14023	0.01;0.001	T	0.39440	-0.9614	9	0.33141	T	0.24	.	4.7016	0.12830	0.0:0.5121:0.0:0.4879	.	512;640	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	W	640;512	ENSP00000376110:R640W;ENSP00000347691:R512W	ENSP00000347691:R512W	R	+	1	2	ZNF493	21399219	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-0.487000	0.06735	-0.474000	0.04947	CGG	ZNF493	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	C	NM_175910		21607379	1	no_errors	ENST00000355504	ensembl	human	known	70_37	missense	SNP	0.000	T	T	21607379	C	T	21607379	3	4	120	1	0	0	0	0	1	0	0	0	17974	759	27	2	1995	2	ZNF493	19	21607379	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	12653525	21607379	37521604	49	19198										
CLIP3	25999	genome.wustl.edu	37	chr19	36517911	36517911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cagtgtcatgtcggtcagccCgtcacgatcgttcacatggc	11	13	4	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr19:36517911C>T	ENST00000360535.4	-	4	570	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	CLIP3_ENST00000593074.1_Missense_Mutation_p.G115R|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	115					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.G115R(2)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCGGTCAGCCCGTCACGATCG	0.632																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											86	76	79					19																	36517911		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.343G>A	19.37:g.36517911C>T	ENSP00000353732:p.Gly115Arg		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.G115R	ENST00000360535.4	37	c.343	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.189050	0.94923	.	.	ENSG00000105270	ENST00000360535;ENST00000534959	T	0.52057	0.68	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.65792	-0.6082	10	0.87932	D	0	-25.4337	16.414	0.83728	0.0:1.0:0.0:0.0	.	115	Q96DZ5	CLIP3_HUMAN	R	115;91	ENSP00000353732:G115R	ENSP00000353732:G115R	G	-	1	0	CLIP3	41209751	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.452000	0.80683	2.465000	0.83290	0.455000	0.32223	GGG	CLIP3	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.632	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	C	NM_015526		36517911	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36517911	C	T	36517911	3	4	120	1	0	0	0	0	1	0	0	0	3539	652	23	2	1344	2	CLIP3	19	36517911	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	14910532	36517911	22611072	50	19199										
C20orf12	55184	genome.wustl.edu	37	chr20	18395005	18395005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gcctcacctcagaaaaagggCgaggttcctcagcagctaga	11	12	3	2			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr20:18395005C>T	ENST00000358866.6	-	11	1251	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	DZANK1_ENST00000329494.5_Missense_Mutation_p.R412H|DZANK1_ENST00000262547.5_Missense_Mutation_p.R410H|DZANK1_ENST00000357236.4_Missense_Mutation_p.R296H|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	410							zinc ion binding (GO:0008270)	p.R410H(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AGAAAAAGGGCGAGGTTCCTC	0.537																																																	2	Substitution - Missense(2)	cervix(2)											55	56	55					20																	18395005		1898	4122	6020	SO:0001583	missense	55184			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1229G>A	20.37:g.18395005C>T	ENSP00000351734:p.Arg410His		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R410H	ENST00000358866.6	37	c.1229	CCDS46582.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.72|10.72	1.429433|1.429433	0.25726|0.25726	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000358866|ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.|T;T;T;T	.|0.64260	.|0.08;-0.09;0.57;0.05	5.64|5.64	-0.139|-0.139	0.13460|0.13460	.|.	.|1.476590	.|0.03110	.|N	.|0.162313	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.18610	.|0.013;0.018;0.006;0.029	.|B;B;B;B	.|0.12156	.|0.003;0.007;0.003;0.003	T|T	0.32903|0.32903	-0.9889|-0.9889	5|10	.|0.45353	.|T	.|0.12	1.008|1.008	0.9235|0.9235	0.01320|0.01320	0.1639:0.336:0.1404:0.3597|0.1639:0.336:0.1404:0.3597	.|.	.|429;296;410;195	.|B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.|.;.;DZAN1_HUMAN;.	T|H	209|237;410;412;236;195;296	.|ENSP00000366857:R237H;ENSP00000262547:R410H;ENSP00000328866:R412H;ENSP00000349774:R296H	.|ENSP00000262547:R410H	A|R	-|-	1|2	0|0	C20orf12|C20orf12	18343005|18343005	0.000000|0.000000	0.05858|0.05858	0.040000|0.040000	0.18447|0.18447	0.014000|0.014000	0.08584|0.08584	-0.520000|-0.520000	0.06252|0.06252	0.342000|0.342000	0.23796|0.23796	-0.251000|-0.251000	0.11542|0.11542	GCC|CGC	DZANK1	-	NULL		0.537	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	C	NM_001099407		18395005	-1	no_errors	ENST00000262547	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18395005	C	T	18395005	3	4	120	1	0	0	0	0	1	0	0	0	2090	768	27	2	1069	2	C20orf12	20	18395005	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		18395005	44630515	51	19200										
KCNG1	3755	genome.wustl.edu	37	chr20	49626346	49626346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cctcccgctccaccatctccGcgaactcctcaatcttctgc	4	21	4	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr20:49626346G>A	ENST00000371571.4	-	2	815	c.530C>T	c.(529-531)gCg>gTg	p.A177V	KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.A177V|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	177					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.A177V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CACCATCTCCGCGAACTCCTC	0.701																																																	1	Substitution - Missense(1)	cervix(1)											36	37	37					20																	49626346		2199	4293	6492	SO:0001583	missense	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.530C>T	20.37:g.49626346G>A	ENSP00000360626:p.Ala177Val		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.A177V	ENST00000371571.4	37	c.530	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035639	0.54896	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.51	5.51	0.81932	BTB/POZ fold (2);	3.063890	0.01278	N	0.009656	T	0.56877	0.2015	M	0.69823	2.125	0.40957	D	0.984595	D;P	0.53745	0.962;0.651	B;B	0.43508	0.422;0.1	T	0.58885	-0.7557	9	.	.	.	.	19.4133	0.94685	0.0:0.0:1.0:0.0	.	177;177	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	V	177	ENSP00000360626:A177V;ENSP00000379338:A177V;ENSP00000394075:A177V;ENSP00000394093:A177V	.	A	-	2	0	KCNG1	49059753	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.063000	0.76714	2.579000	0.87056	0.561000	0.74099	GCG	KCNG1	-	superfamily_BTB/POZ_fold		0.701	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	G	NM_002237		49626346	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	missense	SNP	0.997	A	A	49626346	G	A	49626346	3	1	120	1	0	0	0	0	1	0	0	0	8047	1087	38	2	1019	2	KCNG1	20	49626346	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	31231341	49626346	13399174	52	19201										
SLC25A1	6576	genome.wustl.edu	37	chr22	19165323	19165323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	cagcagcccacgcgtgctgtCcagccgtccctgggcatccc	11	19	0	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr22:19165323C>T	ENST00000215882.5	-	4	514	c.358G>A	c.(358-360)Gac>Aac	p.D120N	SLC25A1_ENST00000451283.1_Missense_Mutation_p.D17N|CLTCL1_ENST00000442042.2_5'Flank|SLC25A1_ENST00000461267.1_5'UTR	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	120					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)	p.D120N(1)		cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		CGCGTGCTGTCCAGCCGTCCC	0.701																																																	1	Substitution - Missense(1)	cervix(1)											19	21	20					22																	19165323		2198	4291	6489	SO:0001583	missense	6576			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"Solute carriers"	10979	protein-coding gene	gene with protein product		190315	"solute carrier family 20 (mitochondrial citrate transporter), member 3"	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.358G>A	22.37:g.19165323C>T	ENSP00000215882:p.Asp120Asn		A8K8E8|Q9BSK6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.D120N	ENST00000215882.5	37	c.358	CCDS13758.1	22	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266271	0.59540	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.77750	-1.12;-1.12	4.31	3.26	0.37387	Mitochondrial carrier domain (2);	0.098316	0.64402	D	0.000002	T	0.65196	0.2668	N	0.25380	0.74	0.58432	D	0.999997	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.008	T	0.63932	-0.6525	10	0.42905	T	0.14	-9.1507	12.6471	0.56742	0.0:0.9171:0.0:0.0829	.	127;120	D9HTE9;P53007	.;TXTP_HUMAN	N	120;17	ENSP00000215882:D120N;ENSP00000401480:D17N	ENSP00000215882:D120N	D	-	1	0	SLC25A1	17545323	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.329000	0.43876	2.210000	0.71456	0.491000	0.48974	GAC	SLC25A1	-	superfamily_Mt_carrier_dom		0.701	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A1	HGNC	protein_coding	OTTHUMT00000316441.1	C	NM_005984		19165323	-1	no_errors	ENST00000215882	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19165323	C	T	19165323	3	4	120	1	0	0	0	0	1	0	0	0	14501	855	30	1	601	1	SLC25A1	22	19165323	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		19165323	32139243	53	19202										
SEZ6L	23544	genome.wustl.edu	37	chr22	26565671	26565671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ccgcccgccgcgggactccgCgggatctcgctgttcctcgc	13	19	1	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr22:26565671C>T	ENST00000248933.6	+	1	131	c.36C>T	c.(34-36)cgC>cgT	p.R12R	SEZ6L_ENST00000529632.2_Silent_p.R12R|SEZ6L_ENST00000404234.3_Silent_p.R12R|SEZ6L_ENST00000343706.4_Silent_p.R12R|SEZ6L_ENST00000360929.3_Silent_p.R12R			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	12					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGACTCCGCGGGATCTCGC	0.786																																																	0													1	1	1					22																	26565671		642	1494	2136	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.36C>T	22.37:g.26565671C>T			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R12	ENST00000248933.6	37	c.36	CCDS13833.1	22																																																																																			SEZ6L	-	NULL		0.786	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	C			26565671	1	no_errors	ENST00000248933	ensembl	human	known	70_37	silent	SNP	0.066	T	T	26565671	C	T	26565671	2	4	120	1	0	0	0	0	0	0	0	1	14173	755	27	2		2	SEZ6L	22	26565671	Silent	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	7400348	26565671	24738895	54	19203										
EP300	2033	genome.wustl.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	6	9	3	0			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98	93	95					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41565529	G	A	41565529	3	1	120	1	0	0	0	0	1	0	0	0	5160	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	14999858	41565529	9739037	55	19204										
KLHDC7B	113730	genome.wustl.edu	37	chr22	50987890	50987890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	agacgcctggaccccacgcgCgccactccccgcaggcacct	10	21	0	1			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chr22:50987890C>T	ENST00000395676.2	+	1	1429	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432								p.A333V(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCCACGCGCGCCACTCCCC	0.672																																																	1	Substitution - Missense(1)	cervix(1)											73	75	74					22																	50987890		2201	4298	6499	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1295C>T	22.37:g.50987890C>T	ENSP00000379034:p.Ala432Val			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.A432V	ENST00000395676.2	37	c.1295	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218684	0.58560	.	.	ENSG00000130487	ENST00000395676	T	0.80304	-1.36	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000918	D	0.89203	0.6648	M	0.80982	2.52	0.35711	D	0.816394	D	0.89917	1.0	D	0.91635	0.999	D	0.92898	0.6337	10	0.87932	D	0	.	13.0304	0.58839	0.1623:0.8376:0.0:0.0	.	432	Q96G42	KLD7B_HUMAN	V	432	ENSP00000379034:A432V	ENSP00000379034:A432V	A	+	2	0	KLHDC7B	49334756	1.000000	0.71417	0.456000	0.27044	0.083000	0.17756	7.596000	0.82721	1.231000	0.43661	0.491000	0.48974	GCG	KLHDC7B	-	pfam_Kelch_1,smart_Kelch_1		0.672	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	C	NM_138433		50987890	1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.986	T	T	50987890	C	T	50987890	3	4	120	1	0	0	0	0	1	0	0	0	8381	768	27	2	1297	2	KLHDC7B	22	50987890	Missense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08	9422361	50987890	316676	56	19205										
PHF6	84295	genome.wustl.edu	37	chrX	133549136	133549136	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ctgtacttcaggagattaaaCgaggaaaaagaatggtctgt	11	5	2	2			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chrX:133549136C>T	ENST00000332070.3	+	8	1022	c.820C>T	c.(820-822)Cga>Tga	p.R274*	PHF6_ENST00000394292.1_Nonsense_Mutation_p.R275*|PHF6_ENST00000370803.3_Nonsense_Mutation_p.R274*|PHF6_ENST00000416404.2_Nonsense_Mutation_p.R240*|PHF6_ENST00000370800.4_Nonsense_Mutation_p.R275*|PHF6_ENST00000370799.1_Nonsense_Mutation_p.R275*	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	274	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R274*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GGAGATTAAACGAGGAAAAAG	0.343			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	4	Substitution - Nonsense(4)	cervix(2)|haematopoietic_and_lymphoid_tissue(2)											80	73	76					X																	133549136		2203	4298	6501	SO:0001587	stop_gained	84295			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.820C>T	X.37:g.133549136C>T	ENSP00000329097:p.Arg274*		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.R275*	ENST00000332070.3	37	c.823	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.084297	0.97267	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6319	12.94	0.58337	0.1725:0.8275:0.0:0.0	.	.	.	.	X	274;274;275;275;240;275	.	ENSP00000329097:R274X	R	+	1	2	PHF6	133376802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.466000	0.60148	2.410000	0.81850	0.594000	0.82650	CGA	PHF6	-	superfamily_Znf_FYVE_PHD		0.343	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	HGNC	protein_coding	OTTHUMT00000058367.1	C	NM_032458		133549136	1	no_errors	ENST00000394292	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	133549136	C	T	133549136	4	4	120	1	0	0	0	0	0	1	0	0	11862	528	19	2	849	2	PHF6	23	133549136	Nonsense_Mutation	SNP	C	TCGA-EX-A1H5-01A-31D-A13W-08		133549136	21721424	57	19206										
PASD1	139135	genome.wustl.edu	37	chrX	150841059	150841059	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	caacccattgttcctgtccaGagagcagctgaacaacagcc	8	14	0	2			TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chrX:150841059G>A	ENST00000370357.4	+	14	2087	c.1842G>A	c.(1840-1842)caG>caA	p.Q614Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	614						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.Q614Q(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTCCAGAGAGCAGCTG	0.488																																																	2	Substitution - coding silent(2)	cervix(2)											134	102	113					X																	150841059		2203	4300	6503	SO:0001819	synonymous_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1842G>A	X.37:g.150841059G>A			Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	smart_PAS,pfscan_PAS	p.Q614	ENST00000370357.4	37	c.1842	CCDS35431.1	X																																																																																			PASD1	-	NULL		0.488	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	G	NM_173493		150841059	1	no_errors	ENST00000370357	ensembl	human	known	70_37	silent	SNP	0.000	A	A	150841059	G	A	150841059	2	1	120	1	0	0	0	0	0	0	0	1	11495	933	33	1		1	PASD1	23	150841059	Silent	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	17291923	150841059	4429501	58	19207										
PLXNA3	55558	genome.wustl.edu	37	chrX	153693147	153693147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	4	0.680304761109086	0.984904120767034	4.67829457364341	0.779715762273902	0.485714285714286	0.713852813852814	0	ctgccactggtgtaagtaccGccacacgtgtaccagccgcc	10	16	0	0	rs149034613		TCGA-EX-A1H5-01A-31D-A13W-08	TCGA-EX-A1H5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	679411e8-ac8e-4d12-b15d-a2a3fac880c8	0a3a2d94-7e83-40a5-af85-0f76840a3037	g.chrX:153693147G>A	ENST00000369682.3	+	10	2154	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	660					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.R660H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTAAGTACCGCCACACGTGT	0.652																																																	1	Substitution - Missense(1)	cervix(1)						G	HIS/ARG	0,3822		0,0,1628,566	47	33	38		1979	4.6	1	X	dbSNP_134	38	1,6720		0,1,2426,1867	no	missense	PLXNA3	NM_017514.3	29	0,1,4054,2433	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	660/1872	153693147	1,10542	2194	4294	6488	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1979G>A	X.37:g.153693147G>A	ENSP00000358696:p.Arg660His		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R660H	ENST00000369682.3	37	c.1979	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444022	0.83993	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.17854	2.25	5.42	4.56	0.56223	.	0.155122	0.64402	N	0.000014	T	0.45276	0.1334	M	0.87097	2.86	0.54753	D	0.999985	D	0.89917	1.0	D	0.74348	0.983	T	0.50693	-0.8798	10	0.59425	D	0.04	.	12.2064	0.54355	0.0862:0.0:0.9138:0.0	.	660	P51805	PLXA3_HUMAN	H	660	ENSP00000358696:R660H	ENSP00000358696:R660H	R	+	2	0	PLXNA3	153346341	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.594000	0.67557	1.168000	0.42723	0.529000	0.55759	CGC	PLXNA3	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.652	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153693147	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153693147	G	A	153693147	3	1	120	1	0	0	0	0	1	0	0	0	12145	1087	38	2	2013	2	PLXNA3	23	153693147	Missense_Mutation	SNP	G	TCGA-EX-A1H5-01A-31D-A13W-08	2852088	153693147	1577413	59	19208										
HES4	57801	genome.wustl.edu	37	chr1	935157	935157	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggcgccgcttctccatgaccGgcttggaggactgcgggtcg	16	13	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:935157G>C	ENST00000304952.6	-	2	256	c.119C>G	c.(118-120)cCg>cGg	p.P40R	RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000428771.2_Missense_Mutation_p.P66R|HES4_ENST00000484667.2_Intron			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	40	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCATGACCGGCTTGGAGGA	0.697																																																	0													21	24	23					1																	935157		2186	4283	6469	SO:0001583	missense	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"Basic helix-loop-helix proteins"	24149	protein-coding gene	gene with protein product		608060	"hairy and enhancer of split 4 (Drosophila)"			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.119C>G	1.37:g.935157G>C	ENSP00000304595:p.Pro40Arg		Q5SVA5	Missense_Mutation	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.P66R	ENST00000304952.6	37	c.197	CCDS5.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791551	0.50102	.	.	ENSG00000188290	ENST00000428771;ENST00000304952	D;D	0.97924	-4.61;-4.61	3.1	2.16	0.27623	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.98611	0.9535	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98186	1.0460	9	0.87932	D	0	.	8.1343	0.31046	0.1308:0.0:0.8692:0.0	.	66;40	E9PB28;Q9HCC6	.;HES4_HUMAN	R	66;40	ENSP00000393198:P66R;ENSP00000304595:P40R	ENSP00000304595:P40R	P	-	2	0	HES4	925020	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	5.662000	0.68032	0.500000	0.27991	0.462000	0.41574	CCG	HES4	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.697	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES4	HGNC	protein_coding	OTTHUMT00000097944.1	G	NM_021170		935157	-1	no_errors	ENST00000428771	ensembl	human	known	70_37	missense	SNP	1.000	C	C	935157	G	C	935157	3	2	121	1	0	0	0	0	1	0	0	0	7088	1116	39	2	558	2	HES4	1	935157	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		935157	248315464	1	19209										
ENO1	2023	genome.wustl.edu	37	chr1	8926553	8926553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gagaaccgccattgatgacaTtgaacgcctggggagagcag	14	9	0	5	rs527568599		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:8926553T>C	ENST00000234590.4	-	7	571	c.452A>G	c.(451-453)aAt>aGt	p.N151S		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	151	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATTGATGACATTGAACGCCTG	0.567													T|||	1	0.000199681	8e-04	0	5008	,	,		19061	0		0	False		,,,				2504	0				Esophageal Squamous(21;302 608 19946 22210 33560)												0													85	82	83					1																	8926553		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.452A>G	1.37:g.8926553T>C	ENSP00000234590:p.Asn151Ser		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.N151S	ENST00000234590.4	37	c.452	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459704	0.63401	.	.	ENSG00000074800	ENST00000234590	T	0.61040	0.14	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.93507	3.425	0.51767	D	0.999938	B;B;B;B	0.31351	0.32;0.209;0.274;0.209	B;B;B;B	0.35688	0.208;0.149;0.132;0.105	T	0.76435	-0.2960	10	0.87932	D	0	-18.3572	14.4863	0.67619	0.0:0.0:0.0:1.0	.	55;118;58;151	E2DRY6;A4UCS8;P06733-2;P06733	.;.;.;ENOA_HUMAN	S	151	ENSP00000234590:N151S	ENSP00000234590:N151S	N	-	2	0	ENO1	8849140	1.000000	0.71417	0.987000	0.45799	0.815000	0.46073	8.005000	0.88553	2.017000	0.59298	0.460000	0.39030	AAT	ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.567	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	T	NM_001428		8926553	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8926553	T	C	8926553	3	2	121	1	0	0	0	0	1	0	0	0	5133	1493	52	5	876	5	ENO1	1	8926553	Missense_Mutation	SNP	T	TCGA-EX-A1H6-01B-11D-A22X-09	7991396	8926553	240324068	2	19210										
FAF1	11124	genome.wustl.edu	37	chr1	51171511	51171511	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gttgtactcccgctggacttCtcggtgggtgatgatcagca	13	10	2	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:51171511C>T	ENST00000396153.2	-	7	1055	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	FAF1_ENST00000371778.4_Missense_Mutation_p.E202K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	202					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CGCTGGACTTCTCGGTGGGTG	0.423																																																	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)											134	122	126					1																	51171511		2203	4300	6503	SO:0001583	missense	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.604G>A	1.37:g.51171511C>T	ENSP00000379457:p.Glu202Lys		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E202K	ENST00000396153.2	37	c.604	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720999	0.68959	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.22421	0.69	0.80722	D	1	P	0.39831	0.69	B	0.33454	0.164	T	0.20371	-1.0277	9	0.12766	T	0.61	-11.7982	19.7502	0.96265	0.0:1.0:0.0:0.0	.	202	Q9UNN5	FAF1_HUMAN	K	202	.	ENSP00000360843:E202K	E	-	1	0	FAF1	50944099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.654000	0.90174	0.650000	0.86243	GAA	FAF1	-	NULL		0.423	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	C	NM_007051		51171511	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51171511	C	T	51171511	3	4	121	1	0	0	0	0	1	0	0	0	5384	922	32	1	1400	1	FAF1	1	51171511	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	42244958	51171511	198079110	3	19211										
LRRC7	57554	genome.wustl.edu	37	chr1	70504040	70504040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gaagcacatcttcgcatggaCgcaggcctttgatcaggcaa	11	11	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:70504040C>T	ENST00000035383.5	+	19	2449	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	LRRC7_ENST00000310961.5_Missense_Mutation_p.R812C|LRRC7_ENST00000415775.2_Missense_Mutation_p.R91C	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	807						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCGCATGGACGCAGGCCTTT	0.483																																																	0													122	108	113					1																	70504040		2203	4300	6503	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2419C>T	1.37:g.70504040C>T	ENSP00000035383:p.Arg807Cys		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R807C	ENST00000035383.5	37	c.2419	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137721	0.77775	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.58358	0.34;0.44;1.55	5.53	5.53	0.82687	.	0.058292	0.64402	D	0.000001	T	0.64594	0.2612	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	T	0.66980	-0.5786	10	0.87932	D	0	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	91;807;807	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	C	812;807;91;630	ENSP00000309245:R812C;ENSP00000035383:R807C;ENSP00000394867:R91C	ENSP00000035383:R807C	R	+	1	0	LRRC7	70276628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.434000	0.80377	2.614000	0.88457	0.467000	0.42956	CGC	LRRC7	-	NULL		0.483	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	C	NM_020794		70504040	1	no_errors	ENST00000035383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70504040	C	T	70504040	3	4	121	1	0	0	0	0	1	0	0	0	9043	536	19	2	2493	2	LRRC7	1	70504040	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	19332529	70504040	178746581	4	19212										
AGL	178	genome.wustl.edu	37	chr1	100336057	100336057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcttagacagagcactttggCgtttctcctgtgatgttgca	10	9	2	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:100336057C>T	ENST00000294724.4	+	6	1244	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	AGL_ENST00000361522.4_Missense_Mutation_p.R239C|AGL_ENST00000361915.3_Missense_Mutation_p.R256C|AGL_ENST00000370161.2_Missense_Mutation_p.R240C|AGL_ENST00000361302.3_Missense_Mutation_p.R240C|AGL_ENST00000370163.3_Missense_Mutation_p.R256C|AGL_ENST00000370165.3_Missense_Mutation_p.R256C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	256					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGCACTTTGGCGTTTCTCCTG	0.403																																																	0													103	102	103					1																	100336057		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.766C>T	1.37:g.100336057C>T	ENSP00000294724:p.Arg256Cys		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.R256C	ENST00000294724.4	37	c.766	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	c	17.30	3.355072	0.61293	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.37	5.37	0.77165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.103999	0.64402	D	0.000003	T	0.76941	0.4058	N	0.19112	0.55	0.50813	D	0.999892	B;P;P	0.41188	0.002;0.741;0.624	B;P;B	0.44990	0.01;0.466;0.164	T	0.81272	-0.1008	10	0.62326	D	0.03	.	19.4745	0.94982	0.0:1.0:0.0:0.0	.	239;240;256	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	256;256;256;256;240;240;239	ENSP00000355106:R256C;ENSP00000359184:R256C;ENSP00000359182:R256C;ENSP00000294724:R256C;ENSP00000354971:R240C;ENSP00000359180:R240C;ENSP00000354635:R239C	ENSP00000294724:R256C	R	+	1	0	AGL	100108645	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	5.992000	0.70609	2.677000	0.91161	0.585000	0.79938	CGT	AGL	-	superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met		0.403	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	C	NM_000028		100336057	1	no_errors	ENST00000294724	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100336057	C	T	100336057	3	4	121	1	0	0	0	0	1	0	0	0	384	768	27	2	853	2	AGL	1	100336057	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	29832017	100336057	148914564	5	19213										
FLG	2312	genome.wustl.edu	37	chr1	152276866	152276866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gatgcgaccatgagtgcctgGagccatctcctgattgttcg	12	11	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:152276866G>C	ENST00000368799.1	-	3	10531	c.10496C>G	c.(10495-10497)tCc>tGc	p.S3499C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3499	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGAGCCATCTCC	0.582									Ichthyosis																																								0													259	256	257					1																	152276866		2203	4297	6500	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10496C>G	1.37:g.152276866G>C	ENSP00000357789:p.Ser3499Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3499C	ENST00000368799.1	37	c.10496	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891626	0.17613	.	.	ENSG00000143631	ENST00000368799	T	0.09350	2.99	2.86	1.88	0.25563	.	.	.	.	.	T	0.14313	0.0346	M	0.73598	2.24	0.09310	N	1	D	0.69078	0.997	D	0.72075	0.976	T	0.06144	-1.0843	9	0.38643	T	0.18	.	7.5519	0.27802	0.0:0.2679:0.7321:0.0	.	3499	P20930	FILA_HUMAN	C	3499	ENSP00000357789:S3499C	ENSP00000357789:S3499C	S	-	2	0	FLG	150543490	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.267000	0.02839	0.492000	0.27815	0.398000	0.26397	TCC	FLG	-	pfam_Filaggrin		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152276866	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152276866	G	C	152276866	3	2	121	1	0	0	0	0	1	0	0	0	5940	1174	41	1	1693	1	FLG	1	152276866	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	51940809	152276866	96973755	6	19214										
FLG	2312	genome.wustl.edu	37	chr1	152277562	152277562	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	attgtctggagcggtctgcaGagtgcccgtgaccggctctg	15	11	3	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:152277562G>A	ENST00000368799.1	-	3	9835	c.9800C>T	c.(9799-9801)tCt>tTt	p.S3267F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3267	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGTCTGCAGAGTGCCCGTG	0.577									Ichthyosis																																								0													277	277	277					1																	152277562		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9800C>T	1.37:g.152277562G>A	ENSP00000357789:p.Ser3267Phe		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3267F	ENST00000368799.1	37	c.9800	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.514	1.106584	0.20714	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00873	5.59	2.9	0.673	0.17941	.	.	.	.	.	T	0.01287	0.0042	M	0.72118	2.19	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.50558	-0.8814	9	0.56958	D	0.05	-5.0E-4	2.8232	0.05478	0.1623:0.0:0.5618:0.2759	.	3267	P20930	FILA_HUMAN	F	3267;205	ENSP00000357789:S3267F	ENSP00000357786:S205F	S	-	2	0	FLG	150544186	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.413000	0.07123	0.538000	0.28769	0.449000	0.29647	TCT	FLG	-	NULL		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152277562	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152277562	G	A	152277562	3	1	121	1	0	0	0	0	1	0	0	0	5940	942	33	1	2389	1	FLG	1	152277562	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	696	152277562	96973059	7	19215										
LCE2B	26239	genome.wustl.edu	37	chr1	152659559	152659559	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	agccaccacaggccccgtctCttccaccggcgccggcacca	9	21	1	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:152659559C>T	ENST00000368780.3	+	2	294	c.240C>T	c.(238-240)ctC>ctT	p.L80L	LCE2B_ENST00000417924.2_Silent_p.L80L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	80	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCCGTCTCTTCCACCGGC	0.692																																																	0													49	64	59					1																	152659559		2202	4293	6495	SO:0001819	synonymous_variant	26239			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.240C>T	1.37:g.152659559C>T			Q5TA80	Silent	SNP	NULL	p.L80	ENST00000368780.3	37	c.240	CCDS1020.1	1																																																																																			LCE2B	-	NULL		0.692	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	HGNC	protein_coding	OTTHUMT00000034524.1	C	NM_014357		152659559	1	no_errors	ENST00000368780	ensembl	human	known	70_37	silent	SNP	0.000	T	T	152659559	C	T	152659559	2	4	121	1	0	0	0	0	0	0	0	1	8686	900	32	1		1	LCE2B	1	152659559	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	381997	152659559	96591062	8	19216										
INTS3	11000	genome.wustl.edu	37	chr1	153745674	153745674	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcccatctcttccaggaagaGgaagacacgaaaccgaagcc	9	13	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:153745674G>T	ENST00000368661.3	+	0	0				SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000318967.2_Missense_Mutation_p.E1019D|INTS3_ENST00000456435.1_Missense_Mutation_p.E879D|INTS3_ENST00000435409.2_Missense_Mutation_p.E1019D|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.E879D	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCAGGAAGAGGAAGACACGA	0.602																																																	0													170	176	174					1																	153745674		2203	4300	6503	SO:0001631	upstream_gene_variant	65123			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745674G>T	Exception_encountered		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.E1019D	ENST00000368661.3	37	c.3057	CCDS1053.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500035	0.64298	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.01	-1.22	0.09494	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	L	0.50333	1.59	0.80722	D	1	D;P;D	0.56035	0.974;0.956;0.974	D;P;D	0.67725	0.953;0.899;0.953	T	0.50320	-0.8842	9	0.24483	T	0.36	.	9.0167	0.36175	0.5026:0.0:0.4974:0.0	.	879;1020;1019	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	D	1019;879;1019;879	.	ENSP00000318641:E1019D	E	+	3	2	INTS3	152012298	0.858000	0.29795	0.997000	0.53966	0.855000	0.48748	-0.083000	0.11286	-0.110000	0.12022	-0.378000	0.06908	GAG	INTS3	-	NULL		0.602	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding		G	NM_024330		153745674	1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	0.990	T	T	153745674	G	T	153745674	1	4	121	0	1	0	0	0	0	0	0	0	7799	991	35	4		4	INTS3	1	153745674	5'Flank	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	1086115	153745674	95504947	9	19217										
GON4L	54856	genome.wustl.edu	37	chr1	155735537	155735537	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	taatttgggttctaggccctGaaaggcattttccccatcag	9	10	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:155735537G>A	ENST00000368331.1	-	21	3775	c.3727C>T	c.(3727-3729)Cag>Tag	p.Q1243*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q1243*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q1243*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q1243*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1243					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTAGGCCCTGAAAGGCATTT	0.507																																																	0													73	76	75					1																	155735537		2203	4298	6501	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3727C>T	1.37:g.155735537G>A	ENSP00000357315:p.Gln1243*		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q1243*	ENST00000368331.1	37	c.3727		1	.	.	.	.	.	.	.	.	.	.	G	38	6.946494	0.97956	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	.	.	.	5.08	4.13	0.48395	.	0.550760	0.18445	N	0.141011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.4288	0.75075	0.0:0.1386:0.8614:0.0	.	.	.	.	X	1243	.	ENSP00000271883:Q1243X	Q	-	1	0	GON4L	154002161	0.977000	0.34250	0.963000	0.40424	0.362000	0.29581	2.480000	0.45206	2.649000	0.89929	0.650000	0.86243	CAG	GON4L	-	NULL		0.507	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155735537	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	0.951	A	A	155735537	G	A	155735537	4	1	121	1	0	0	0	0	0	1	0	0	6591	1299	45	1	3160	1	GON4L	1	155735537	Nonsense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	1989863	155735537	93515084	10	19218										
PHLDA3	23612	genome.wustl.edu	37	chr1	201437555	201437555	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gacacgagggtcccggtcccGaggctctgccgggcccgcac	15	17	1	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:201437555G>A	ENST00000367311.3	-	1	757	c.360C>T	c.(358-360)ctC>ctT	p.L120L	PHLDA3_ENST00000367309.1_Silent_p.L120L|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	120	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TCCCGGTCCCGAGGCTCTGCC	0.647																																																	0													53	61	58					1																	201437555		2203	4300	6503	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"pleckstrin homology-like domain, family A, member 2"	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.360C>T	1.37:g.201437555G>A			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.L120	ENST00000367311.3	37	c.360	CCDS1412.1	1																																																																																			PHLDA3	-	NULL		0.647	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437555	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	0.137	A	A	201437555	G	A	201437555	2	1	121	1	0	0	0	0	0	0	0	1	11874	1045	37	1		1	PHLDA3	1	201437555	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	45702018	201437555	47813066	11	19219										
PHLDA3	23612	genome.wustl.edu	37	chr1	201437741	201437741	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tccacgcactccacggccttGatgcgggcgaagctgagctc	12	15	0	2	rs371751537		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:201437741G>A	ENST00000367311.3	-	1	571	c.174C>T	c.(172-174)atC>atT	p.I58I	PHLDA3_ENST00000367309.1_Silent_p.I58I|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	58	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						CCACGGCCTTGATGCGGGCGA	0.682																																																	0								G		0,4406		0,0,2203	38	43	41		174	3.8	1	1		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PHLDA3	NM_012396.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		58/128	201437741	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"pleckstrin homology-like domain, family A, member 2"	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.174C>T	1.37:g.201437741G>A			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.I58	ENST00000367311.3	37	c.174	CCDS1412.1	1																																																																																			PHLDA3	-	smart_Pleckstrin_homology		0.682	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437741	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	1.000	A	A	201437741	G	A	201437741	2	1	121	1	0	0	0	0	0	0	0	1	11874	1280	45	1		1	PHLDA3	1	201437741	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	186	201437741	47812880	12	19220										
COG2	22796	genome.wustl.edu	37	chr1	230827303	230827303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cctagatgttgagtacttggGagagcaggtaacccatcagc	12	9	1	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:230827303G>A	ENST00000366669.4	+	17	2223	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	COG2_ENST00000535166.1_Missense_Mutation_p.G587E|COG2_ENST00000534989.1_Missense_Mutation_p.G644E|COG2_ENST00000366668.3_Missense_Mutation_p.G702E|COG2_ENST00000546013.1_Missense_Mutation_p.G392E	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	703					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGTACTTGGGAGAGCAGGTA	0.592																																																	0													72	70	71					1																	230827303		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.2108G>A	1.37:g.230827303G>A	ENSP00000355629:p.Gly703Glu		Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.G703E	ENST00000366669.4	37	c.2108	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572195	0.65765	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.50277	1.77;1.74;1.77;1.78;0.75	5.59	4.62	0.57501	.	0.046970	0.85682	D	0.000000	T	0.61148	0.2324	M	0.65975	2.015	0.80722	D	1	D;D	0.62365	0.986;0.991	P;P	0.61800	0.839;0.894	T	0.55418	-0.8144	10	0.21014	T	0.42	-26.1394	14.9171	0.70807	0.0:0.0:0.8562:0.1438	.	702;703	Q86U99;Q14746	.;COG2_HUMAN	E	703;587;702;644;392	ENSP00000355629:G703E;ENSP00000445724:G587E;ENSP00000355628:G702E;ENSP00000440349:G644E;ENSP00000442147:G392E	ENSP00000355628:G702E	G	+	2	0	COG2	228893926	1.000000	0.71417	0.993000	0.49108	0.216000	0.24613	7.661000	0.83786	2.648000	0.89879	0.561000	0.74099	GGA	COG2	-	NULL		0.592	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	G	NM_007357		230827303	1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	1.000	A	A	230827303	G	A	230827303	3	1	121	1	0	0	0	0	1	0	0	0	3663	1174	41	1	2174	1	COG2	1	230827303	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	29389562	230827303	18423318	13	19221										
AFTPH	54812	genome.wustl.edu	37	chr2	64780340	64780340	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	attggaatgcttttgaggatGaacaaaaagatagttgttct	10	3	1	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:64780340G>A	ENST00000422803.1	+	2	2046	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	AFTPH_ENST00000409933.1_Missense_Mutation_p.E578K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E578K|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238856.4_Missense_Mutation_p.E578K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E209K			Q6ULP2	AFTIN_HUMAN	aftiphilin	578					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTTTGAGGATGAACAAAAAGA	0.428																																																	0													96	94	94					2																	64780340		2203	4300	6503	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1732G>A	2.37:g.64780340G>A	ENSP00000397726:p.Glu578Lys		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.E578K	ENST00000422803.1	37	c.1732		2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266983	0.59540	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.49720	1.75;1.75;1.75;1.75;0.77	6.16	6.16	0.99307	.	0.311989	0.34580	N	0.003850	T	0.54615	0.1869	L	0.57536	1.79	0.46631	D	0.999137	B;B;B;B	0.34329	0.277;0.449;0.277;0.449	B;B;B;B	0.40444	0.203;0.329;0.203;0.26	T	0.46048	-0.9219	10	0.38643	T	0.18	-2.3328	20.8598	0.99761	0.0:0.0:1.0:0.0	.	578;578;578;578	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	578;578;578;578;209	ENSP00000238856:E578K;ENSP00000397726:E578K;ENSP00000238855:E578K;ENSP00000387071:E578K;ENSP00000386913:E209K	ENSP00000238855:E578K	E	+	1	0	AFTPH	64633844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.360000	0.79487	2.937000	0.99478	0.650000	0.86243	GAA	AFTPH	-	NULL		0.428	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		G	NM_017657		64780340	1	no_errors	ENST00000422803	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64780340	G	A	64780340	3	1	121	1	0	0	0	0	1	0	0	0	364	1291	45	1	1734	1	AFTPH	2	64780340	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		64780340	178419033	14	19222										
PROM2	150696	genome.wustl.edu	37	chr2	95950732	95950732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cccagtataccaacaagctaCggcaggagttgcagagcctg	11	12	0	1	rs553459907		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:95950732C>T	ENST00000317620.9	+	15	1877	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAACAAGCTACGGCAGGAGTT	0.627													C|||	1	0.000199681	0	0	5008	,	,		17713	0.001		0	False		,,,				2504	0																0													33	30	31					2																	95950732		2203	4299	6502	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1744C>T	2.37:g.95950732C>T	ENSP00000318270:p.Arg582Trp		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.R582W	ENST00000317620.9	37	c.1744	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	C	8.245	0.807747	0.16467	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620	T;T;T	0.44881	0.91;0.91;0.91	4.35	1.39	0.22231	.	0.549033	0.17264	N	0.180667	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.56958	D	0.05	-2.6235	8.3516	0.32305	0.0:0.5884:0.3185:0.0931	.	582	Q8N271	PROM2_HUMAN	W	582	ENSP00000385716:R582W;ENSP00000318520:R582W;ENSP00000318270:R582W	ENSP00000318270:R582W	R	+	1	2	PROM2	95314459	0.022000	0.18835	0.001000	0.08648	0.000000	0.00434	-0.029000	0.12329	-0.148000	0.11234	-1.598000	0.00824	CGG	PROM2	-	pfam_Prominin		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95950732	1	no_errors	ENST00000317620	ensembl	human	known	70_37	missense	SNP	0.001	T	T	95950732	C	T	95950732	3	4	121	1	0	0	0	0	1	0	0	0	12583	527	19	2	1802	2	PROM2	2	95950732	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	31170392	95950732	147248641	15	19223										
WDR33	55339	genome.wustl.edu	37	chr2	128474785	128474785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggggaatgcgaccttgtgctCcctgctgccctaggcctggt	14	13	0	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:128474785C>T	ENST00000322313.4	-	17	2971	c.2813G>A	c.(2812-2814)gGa>gAa	p.G938E		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	938					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACCTTGTGCTCCCTGCTGCCC	0.498																																																	0													38	37	37					2																	128474785		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2813G>A	2.37:g.128474785C>T	ENSP00000325377:p.Gly938Glu		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G938E	ENST00000322313.4	37	c.2813	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668854	0.88348	.	.	ENSG00000136709	ENST00000322313	D	0.92699	-3.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.87696	0.6242	N	0.14661	0.345	0.80722	D	1	D	0.54047	0.964	P	0.44811	0.461	D	0.90234	0.4281	10	0.87932	D	0	-10.4083	18.8902	0.92397	0.0:1.0:0.0:0.0	.	938	Q9C0J8	WDR33_HUMAN	E	938	ENSP00000325377:G938E	ENSP00000325377:G938E	G	-	2	0	WDR33	128191255	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.473000	0.83533	0.563000	0.77884	GGA	WDR33	-	NULL		0.498	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128474785	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128474785	C	T	128474785	3	4	121	1	0	0	0	0	1	0	0	0	17318	855	30	1	1221	1	WDR33	2	128474785	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	32524053	128474785	114724588	16	19224										
GTDC1	79712	genome.wustl.edu	37	chr2	144966322	144966322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tgtttatgggagcctccataGaatgcttcaatgatgaggat	11	6	1	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:144966322G>C	ENST00000392869.2	-	3	179	c.27C>G	c.(25-27)ttC>ttG	p.F9L	GTDC1_ENST00000241391.5_Missense_Mutation_p.F9L|GTDC1_ENST00000542155.1_Missense_Mutation_p.F9L|GTDC1_ENST00000409214.1_Missense_Mutation_p.F9L|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.F9L|GTDC1_ENST00000392867.3_Missense_Mutation_p.F9L|GTDC1_ENST00000409298.1_Missense_Mutation_p.F9L|GTDC1_ENST00000467352.1_5'Flank	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	9					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AGCCTCCATAGAATGCTTCAA	0.388																																																	0													62	63	62					2																	144966322		2203	4300	6503	SO:0001583	missense	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.27C>G	2.37:g.144966322G>C	ENSP00000376608:p.Phe9Leu		A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.F9L	ENST00000392869.2	37	c.27	CCDS33300.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097158	0.76870	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	6.08	2.88	0.33553	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.86420	2.815	0.54753	D	0.999986	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	D;D;D;D	0.83275	0.983;0.969;0.996;0.983	T	0.76729	-0.2852	10	0.72032	D	0.01	-3.4411	11.2215	0.48857	0.2945:0.0:0.7055:0.0	.	9;9;9;9	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	L	9	ENSP00000376608:F9L;ENSP00000386581:F9L;ENSP00000376606:F9L;ENSP00000386691:F9L;ENSP00000438323:F9L;ENSP00000241391:F9L;ENSP00000339750:F9L;ENSP00000403869:F9L;ENSP00000400661:F9L	ENSP00000241391:F9L	F	-	3	2	GTDC1	144682792	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.613000	0.24299	0.891000	0.36235	0.655000	0.94253	TTC	GTDC1	-	pfam_GlycosylTrfase_1_N		0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	G	NM_024659		144966322	-1	no_errors	ENST00000344850	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144966322	G	C	144966322	3	2	121	1	0	0	0	0	1	0	0	0	6871	933	33	1	1385	1	GTDC1	2	144966322	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	16491537	144966322	98233051	17	19225										
KIF5C	3800	genome.wustl.edu	37	chr2	149854923	149854923	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ctgggatgcagaaggcgctgGagcagcagatggagagccac	17	9	0	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:149854923G>C	ENST00000435030.1	+	19	2478	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	KIF5C_ENST00000414838.2_Missense_Mutation_p.E609Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.E472Q			O60282	KIF5C_HUMAN	kinesin family member 5C	704					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAGGCGCTGGAGCAGCAGAT	0.547																																																	0													19	22	21					2																	149854923		2095	4219	6314	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2110G>C	2.37:g.149854923G>C	ENSP00000393379:p.Glu704Gln		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E704Q	ENST00000435030.1	37	c.2110		2	.	.	.	.	.	.	.	.	.	.	G	35	5.457261	0.96223	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.80566	-1.39;-1.39;-1.39	5.79	5.79	0.91817	.	0.057415	0.64402	D	0.000002	D	0.87989	0.6317	.	.	.	0.58432	D	0.999994	D	0.57899	0.981	P	0.58721	0.844	D	0.86757	0.1964	8	.	.	.	.	20.0473	0.97613	0.0:0.0:1.0:0.0	.	704	O60282	KIF5C_HUMAN	Q	704;609;607;472	ENSP00000393379:E704Q;ENSP00000410115:E609Q;ENSP00000380560:E472Q	.	E	+	1	0	KIF5C	149563169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.722000	0.93159	0.655000	0.94253	GAG	KIF5C	-	NULL		0.547	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149854923	1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149854923	G	C	149854923	3	2	121	1	0	0	0	0	1	0	0	0	8327	1175	41	1	2106	1	KIF5C	2	149854923	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	4888601	149854923	93344450	18	19226										
UBR3	130507	genome.wustl.edu	37	chr2	170930076	170930076	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttataactcagtggtgttttGagataaaatcatttactgaa	7	4	2	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:170930076G>C	ENST00000272793.5	+	36	5208	c.5158G>C	c.(5158-5160)Gag>Cag	p.E1720Q	UBR3_ENST00000418381.1_Missense_Mutation_p.E1720Q|UBR3_ENST00000392631.1_Missense_Mutation_p.E541Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1720					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1720K(1)|p.E573K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGGTGTTTTGAGATAAAATC	0.388																																																	2	Substitution - Missense(2)	cervix(2)											109	106	107					2																	170930076		2203	4299	6502	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5158G>C	2.37:g.170930076G>C	ENSP00000272793:p.Glu1720Gln		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E1720Q	ENST00000272793.5	37	c.5158		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.737744|1.737744	0.30774|0.30774	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57888|0.57888	0.2084|0.2084	L|L	0.28274|0.28274	0.84|0.84	0.49483|0.49483	D|D	0.999792|0.999792	D;D;D|.	0.71674|.	0.997;0.998;0.993|.	D;D;D|.	0.80764|.	0.986;0.994;0.979|.	T|T	0.51387|0.51387	-0.8712|-0.8712	10|5	0.13108|.	T|.	0.6|.	.|.	19.5612|19.5612	0.95373|0.95373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1720;541;1749|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	Q|F	1720;1749;1720;541;420|781	ENSP00000272793:E1720Q;ENSP00000396068:E1720Q;ENSP00000376408:E541Q;ENSP00000389097:E420Q|.	ENSP00000272793:E1720Q|.	E|L	+|+	1|3	0|2	UBR3|UBR3	170638322|170638322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.923000|8.923000	0.92808|0.92808	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAG|TTG	UBR3	-	NULL		0.388	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	G	NM_172070		170930076	1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170930076	G	C	170930076	3	2	121	1	0	0	0	0	1	0	0	0	16934	1291	45	1	5300	1	UBR3	2	170930076	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	21075153	170930076	72269297	19	19227										
TTN	7273	genome.wustl.edu	37	chr2	179590293	179590293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ctggacaaaaataggctgggCgccttctatggatgcttgta	12	8	1	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:179590293C>T	ENST00000591111.1	-	69	19911	c.19687G>A	c.(19687-19689)Gcc>Acc	p.A6563T	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A6880T|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A5636T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12166	Ig-like 47.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A5636S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGGCTGGGCGCCTTCTATG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											103	94	97					2																	179590293		1845	4107	5952	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19687G>A	2.37:g.179590293C>T	ENSP00000465570:p.Ala6563Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A5636T	ENST00000591111.1	37	c.16906		2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245436	0.39697	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.86	0.183	0.15082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43166	0.1235	N	0.20766	0.605	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34030	-0.9845	9	0.87932	D	0	.	0.8749	0.01222	0.2375:0.3913:0.1197:0.2516	.	6563	Q8WZ42	TITIN_HUMAN	T	5636	ENSP00000343764:A5636T	ENSP00000343764:A5636T	A	-	1	0	TTN	179298538	0.850000	0.29656	0.644000	0.29465	0.996000	0.88848	1.628000	0.37060	0.076000	0.16826	0.650000	0.86243	GCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179590293	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.980	T	T	179590293	C	T	179590293	3	4	121	1	0	0	0	0	1	0	0	0	16766	768	27	2	84059	2	TTN	2	179590293	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	8660217	179590293	63609080	20	19228										
IMPG2	50939	genome.wustl.edu	37	chr3	100976502	100976502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aacaacagtgggtttatcatCcagttccacaaggccatggt	9	10	1	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr3:100976502C>T	ENST00000193391.7	-	10	1211	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	342	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGTTTATCATCCAGTTCCACA	0.438																																																	0													127	121	123					3																	100976502		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1024G>A	3.37:g.100976502C>T	ENSP00000193391:p.Asp342Asn		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.D342N	ENST00000193391.7	37	c.1024	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093233	0.76756	.	.	ENSG00000081148	ENST00000193391	T	0.26223	1.75	5.51	4.64	0.57946	SEA (1);	0.149852	0.45126	N	0.000381	T	0.24353	0.0590	L	0.44542	1.39	0.33587	D	0.600672	B;B	0.22146	0.065;0.024	B;B	0.24394	0.053;0.031	T	0.28870	-1.0030	10	0.62326	D	0.03	-10.9615	12.5939	0.56456	0.0:0.9231:0.0:0.0769	.	342;342	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	342	ENSP00000193391:D342N	ENSP00000193391:D342N	D	-	1	0	IMPG2	102459192	0.995000	0.38212	1.000000	0.80357	0.872000	0.50106	3.526000	0.53509	1.332000	0.45431	0.462000	0.41574	GAT	IMPG2	-	smart_SEA		0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			100976502	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	0.984	T	T	100976502	C	T	100976502	3	4	121	1	0	0	0	0	1	0	0	0	7749	855	30	1	2741	1	IMPG2	3	100976502	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		100976502	97045928	21	19229										
TMEM44	93109	genome.wustl.edu	37	chr3	194331718	194331718	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcctcagtgacttgcagtgtGacagtgtggtgagaggcacc	14	9	1	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr3:194331718G>C	ENST00000392432.2	-	9	1290	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	TMEM44_ENST00000347147.4_Nonsense_Mutation_p.S315*|TMEM44_ENST00000381975.3_Nonsense_Mutation_p.S315*|TMEM44_ENST00000473092.1_Nonsense_Mutation_p.S315*|TMEM44_ENST00000273580.7_Nonsense_Mutation_p.S315*	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	362						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTGCAGTGTGACAGTGTGGT	0.512																																																	0													147	111	123					3																	194331718		2203	4300	6503	SO:0001587	stop_gained	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1085C>G	3.37:g.194331718G>C	ENSP00000376227:p.Ser362*		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Nonsense_Mutation	SNP	NULL	p.S362*	ENST00000392432.2	37	c.1085	CCDS54699.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610244	0.87258	.	.	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000432352;ENST00000347147;ENST00000381975;ENST00000473092;ENST00000452358;ENST00000429560	.	.	.	5.13	4.23	0.50019	.	0.187829	0.34628	N	0.003820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.052	11.7369	0.51769	0.0:0.1785:0.8215:0.0	.	.	.	.	X	362;315;73;315;315;315;148;47	.	ENSP00000273580:S315X	S	-	2	0	TMEM44	195813007	0.142000	0.22610	0.031000	0.17742	0.941000	0.58515	1.932000	0.40143	1.239000	0.43787	0.591000	0.81541	TCA	TMEM44	-	NULL		0.512	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	G	NM_138399		194331718	-1	no_errors	ENST00000392432	ensembl	human	known	70_37	nonsense	SNP	0.069	C	C	194331718	G	C	194331718	4	2	121	1	0	0	0	0	0	1	0	0	16198	1294	45	1	388	1	TMEM44	3	194331718	Nonsense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	93355216	194331718	3690712	22	19230										
ACOX3	8310	genome.wustl.edu	37	chr4	8396463	8396463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tgccagatatggaagcaagcGccattgctagaacagacaag	11	9	0	3	rs149218868		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:8396463G>A	ENST00000356406.5	-	10	1140	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	ACOX3_ENST00000413009.2_Missense_Mutation_p.R355C|ACOX3_ENST00000503233.1_Missense_Mutation_p.R355C|RNA5SP152_ENST00000365184.1_RNA	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	355					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGAAGCAAGCGCCATTGCTAG	0.572																																																	0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	56	58		1063,1063	4.3	1	4	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	ACOX3	NM_001101667.1,NM_003501.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	355/625,355/701	8396463	1,13005	2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1063C>T	4.37:g.8396463G>A	ENSP00000348775:p.Arg355Cys		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.R355C	ENST00000356406.5	37	c.1063	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141994	0.57044	2.27E-4	0.0	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96651	-4.08;-4.08;-4.08	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99338	1.0911	10	0.87932	D	0	-38.804	16.0751	0.80962	0.0:0.0:1.0:0.0	.	355;355;355	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	C	355	ENSP00000413994:R355C;ENSP00000348775:R355C;ENSP00000421625:R355C	ENSP00000348775:R355C	R	-	1	0	ACOX3	8447363	1.000000	0.71417	0.996000	0.52242	0.067000	0.16453	7.991000	0.88244	2.395000	0.81488	0.650000	0.86243	CGC	ACOX3	-	pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	G			8396463	-1	no_errors	ENST00000356406	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8396463	G	A	8396463	3	1	121	1	0	0	0	0	1	0	0	0	160	1087	38	2	1075	2	ACOX3	4	8396463	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		8396463	182757813	23	19231										
FBXL5	26234	genome.wustl.edu	37	chr4	15607356	15607356	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aagtcaagggtcattcgccaGagcggcagcaggctcgaaaa	13	10	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:15607356G>C	ENST00000341285.3	-	11	2190	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	FBXL5_ENST00000382358.4_Missense_Mutation_p.S563C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S672C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	689					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TCATTCGCCAGAGCGGCAGCA	0.443																																																	0													70	62	64					4																	15607356		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.2066C>G	4.37:g.15607356G>C	ENSP00000344866:p.Ser689Cys		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S689C	ENST00000341285.3	37	c.2066	CCDS3415.1	4	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635806	0.87760	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.46063	1.01;1.04;0.88	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.64245	-0.6453	10	0.66056	D	0.02	-17.9967	19.6961	0.96026	0.0:0.0:1.0:0.0	.	672;689	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	C	689;672;563	ENSP00000344866:S689C;ENSP00000408679:S672C;ENSP00000371795:S563C	ENSP00000344866:S689C	S	-	2	0	FBXL5	15216454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.654000	0.90174	0.650000	0.86243	TCT	FBXL5	-	NULL		0.443	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	G			15607356	-1	no_errors	ENST00000341285	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15607356	G	C	15607356	3	2	121	1	0	0	0	0	1	0	0	0	5740	942	33	1	13	1	FBXL5	4	15607356	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	7210893	15607356	175546920	24	19232										
SCARB2	950	genome.wustl.edu	37	chr4	77097666	77097666	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tagaaaaacatagtctccatCattagtcccatttttctgaa	4	9	3	2	rs375205937		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:77097666C>T	ENST00000264896.2	-	5	977	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	210					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAGTCTCCATCATTAGTCCCA	0.333																																																	0								C	ASN/ASP,	0,4404		0,0,2202	98	100	99		628,	5.3	1	4		99	1,8593	1.2+/-3.3	0,1,4296	no	missense,intron	SCARB2	NM_005506.3,NM_001204255.1	23,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,	210/479,	77097666	1,12997	2202	4297	6499	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.628G>A	4.37:g.77097666C>T	ENSP00000264896:p.Asp210Asn		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.D210N	ENST00000264896.2	37	c.628	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789787	0.90367	0.0	1.16E-4	ENSG00000138760	ENST00000264896	T	0.74209	-0.82	5.33	5.33	0.75918	.	0.045854	0.85682	D	0.000000	D	0.85080	0.5615	M	0.82823	2.61	0.80722	D	1	P	0.50943	0.94	P	0.56343	0.796	D	0.86566	0.1844	10	0.54805	T	0.06	.	17.808	0.88607	0.0:1.0:0.0:0.0	.	210	Q14108	SCRB2_HUMAN	N	210	ENSP00000264896:D210N	ENSP00000264896:D210N	D	-	1	0	SCARB2	77316690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.778000	0.75043	2.503000	0.84419	0.650000	0.86243	GAT	SCARB2	-	pfam_CD36		0.333	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	C	NM_005506		77097666	-1	no_errors	ENST00000264896	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77097666	C	T	77097666	3	4	121	1	0	0	0	0	1	0	0	0	13912	826	29	1	840	1	SCARB2	4	77097666	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	61490310	77097666	114056610	25	19233										
DCLK2	166614	genome.wustl.edu	37	chr4	151169505	151169505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	atgttgaagctcggtgtaccGcgggacaaatcctgagtcac	12	10	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:151169505G>A	ENST00000296550.7	+	14	2678	c.1924G>A	c.(1924-1926)Gcg>Acg	p.A642T	DCLK2_ENST00000302176.8_Missense_Mutation_p.A659T|DCLK2_ENST00000506325.1_Missense_Mutation_p.A641T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCGGTGTACCGCGGGACAAAT	0.493																																					GBM(195;186 2215 13375 16801 37459)												0													111	105	107					4																	151169505		2203	4300	6503	SO:0001583	missense	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1924G>A	4.37:g.151169505G>A	ENSP00000296550:p.Ala642Thr		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.A659T	ENST00000296550.7	37	c.1975	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.581177	0.96565	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.48522	0.81;0.81;0.81	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.969;0.996;0.987	T	0.77550	-0.2546	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	659;641;642	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	T	642;641;659	ENSP00000296550:A642T;ENSP00000427235:A641T;ENSP00000303887:A659T	ENSP00000296550:A642T	A	+	1	0	DCLK2	151388955	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	9.202000	0.95026	2.941000	0.99782	0.655000	0.94253	GCG	DCLK2	-	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		0.493	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	G	NM_001040260		151169505	1	no_errors	ENST00000302176	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151169505	G	A	151169505	3	1	121	1	0	0	0	0	1	0	0	0	4297	1087	38	2	1978	2	DCLK2	4	151169505	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	74071839	151169505	39984771	26	19234										
RAPGEF2	9693	genome.wustl.edu	37	chr4	160275088	160275088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gaggggtggaaaggatgtttCcattgaagccgaaagcagta	15	5	0	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:160275088C>A	ENST00000264431.4	+	22	4477	c.4058C>A	c.(4057-4059)tCc>tAc	p.S1353Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1353					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGGATGTTTCCATTGAAGCC	0.537																																																	0													46	47	47					4																	160275088		1961	4164	6125	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4058C>A	4.37:g.160275088C>A	ENSP00000264431:p.Ser1353Tyr		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1353Y	ENST00000264431.4	37	c.4058	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.50|10.50	1.366559|1.366559	0.24771|0.24771	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431	.|T	.|0.42131	.|0.98	6.17|6.17	5.33|5.33	0.75918|0.75918	.|.	.|0.372371	.|0.30020	.|N	.|0.010610	T|T	0.31358|0.31358	0.0794|0.0794	N|N	0.14661|0.14661	0.345|0.345	0.29265|0.29265	N|N	0.871043|0.871043	.|P	.|0.47545	.|0.897	.|B	.|0.42593	.|0.392	T|T	0.23655|0.23655	-1.0182|-1.0182	5|10	.|0.66056	.|D	.|0.02	.|.	15.6272|15.6272	0.76870|0.76870	0.0:0.9346:0.0:0.0653|0.0:0.9346:0.0:0.0653	.|.	.|1353	.|Q9Y4G8	.|RPGF2_HUMAN	L|Y	287|1353	.|ENSP00000264431:S1353Y	.|ENSP00000264431:S1353Y	F|S	+|+	3|2	2|0	RAPGEF2|RAPGEF2	160494538|160494538	0.539000|0.539000	0.26402|0.26402	0.092000|0.092000	0.20876|0.20876	0.006000|0.006000	0.05464|0.05464	2.252000|2.252000	0.43196|0.43196	1.632000|1.632000	0.50472|0.50472	-0.140000|-0.140000	0.14226|0.14226	TTC|TCC	RAPGEF2	-	NULL		0.537	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	C	NM_014247		160275088	1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	0.616	A	A	160275088	C	A	160275088	3	1	121	1	0	0	0	0	1	0	0	0	13074	855	30	3	4144	3	RAPGEF2	4	160275088	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	9105583	160275088	30879188	27	19235										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5239294	5239294	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gtgacaatgtccttggatctGatgctgttgaagacgtctgt	12	7	2	4			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:5239294G>C	ENST00000274181.7	+	15	2323	c.2185G>C	c.(2185-2187)Gat>Cat	p.D729H	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	729	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCTTGGATCTGATGCTGTTGA	0.498																																																	0													295	283	287					5																	5239294		2041	4186	6227	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2185G>C	5.37:g.5239294G>C	ENSP00000274181:p.Asp729His		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D729H	ENST00000274181.7	37	c.2185	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494764	0.64186	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.68181	-0.31	5.85	2.74	0.32292	.	0.653737	0.14948	N	0.289097	T	0.71745	0.3376	M	0.83774	2.66	0.23325	N	0.9979	P;P	0.44521	0.761;0.837	B;P	0.49276	0.365;0.605	T	0.63189	-0.6693	10	0.54805	T	0.06	.	5.5117	0.16884	0.4877:0.0:0.5123:0.0	.	729;729	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	729	ENSP00000274181:D729H	ENSP00000274181:D729H	D	+	1	0	ADAMTS16	5292294	0.011000	0.17503	0.161000	0.22692	0.974000	0.67602	2.014000	0.40951	0.815000	0.34398	0.655000	0.94253	GAT	ADAMTS16	-	prints_Peptidase_M12B_ADAM-TS		0.498	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5239294	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.497	C	C	5239294	G	C	5239294	3	2	121	1	0	0	0	0	1	0	0	0	261	1290	45	1	2243	1	ADAMTS16	5	5239294	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		5239294	175675966	28	19236										
IRF1	3659	genome.wustl.edu	37	chr5	131823640	131823640	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gtgtgaatggcccagctccgGaacaaacaggcatccttgtt	11	11	0	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:131823640G>A	ENST00000245414.4	-	3	423	c.165C>T	c.(163-165)ttC>ttT	p.F55F	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Silent_p.F55F	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	55					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCAGCTCCGGAACAAACAGG	0.532																																																	0													107	85	93					5																	131823640		2203	4300	6503	SO:0001819	synonymous_variant	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.165C>T	5.37:g.131823640G>A			Q96GG7	Silent	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.F55	ENST00000245414.4	37	c.165	CCDS4155.1	5																																																																																			IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom		0.532	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	G	NM_002198		131823640	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131823640	G	A	131823640	2	1	121	1	0	0	0	0	0	0	0	1	7847	1165	41	1		1	IRF1	5	131823640	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	126584346	131823640	49091620	29	19237										
PCDHGA4	56111	genome.wustl.edu	37	chr5	140737032	140737032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttcctgcagacctattcccaCgaggtctccctcaccgcgga	8	17	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:140737032C>T	ENST00000571252.1	+	1	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	755					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.612																																																	0													81	85	83					5																	140737032		2203	4300	6503	SO:0001819	synonymous_variant	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2265C>T	5.37:g.140737032C>T			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H755	ENST00000571252.1	37	c.2265	CCDS58979.1	5																																																																																			PCDHGA4	-	NULL		0.612	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	C	NM_018917		140737032	1	no_errors	ENST00000571252	ensembl	human	known	70_37	silent	SNP	0.548	T	T	140737032	C	T	140737032	2	4	121	1	0	0	0	0	0	0	0	1	11580	535	19	2		2	PCDHGA4	5	140737032	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	8913392	140737032	40178228	30	19238										
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056513	26056514	+	Frame_Shift_Ins	INS	-	-	A													0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tacgctctttagaggcggccINSacagccttggtgatgagctc					rs201575715		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:26056513_26056514insA	ENST00000343677.2	-	1	185_186	c.143_144insT	c.(142-144)gtgfs	p.V48fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	48	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGAGGCGGCCACAGCCTTGGT	0.574																																																	0																																										SO:0001589	frameshift_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.144dupT	6.37:g.26056514_26056514dupA	ENSP00000339566:p.Val48fs		A8K4I2	Frame_Shift_Ins	INS	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A49fs	ENST00000343677.2	37	c.144_143	CCDS4577.1	6																																																																																			HIST1H1C	-	pfam_Histone_H1/H5,smart_Histone_H1/H5		0.574	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	-	NM_005319		26056514	-1	no_errors	ENST00000343677	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	A	A	26056514	-	A	26056513	7	5	121	1	0	1	1	0	0	0	0	0	7144	581	21	0	501	0	HIST1H1C	6	26056513	Frame_Shift_Ins	INS	-	TCGA-EX-A1H6-01B-11D-A22X-09		26056513	145058554	31	19239										
GABBR1	2550	genome.wustl.edu	37	chr6	29577078	29577078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tgcccaggctggagagaactGagacggagataaagagtttc	14	7	0	4			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:29577078G>A	ENST00000377034.4	-	15	2122	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	GABBR1_ENST00000377012.4_Missense_Mutation_p.S479L|GABBR1_ENST00000355973.3_Missense_Mutation_p.S479L|GABBR1_ENST00000377016.4_Missense_Mutation_p.S534L|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	596					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAGAGAACTGAGACGGAGAT	0.517																																																	0													121	96	105					6																	29577078		1511	2709	4220	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1787C>T	6.37:g.29577078G>A	ENSP00000366233:p.Ser596Leu		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.S596L	ENST00000377034.4	37	c.1787	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.254665	0.95336	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;T	0.83591	-1.74;-1.64;-1.74;-0.52	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.993	D;D;D	0.80764	0.993;0.994;0.977	D	0.88114	0.2827	10	0.52906	T	0.07	-25.6017	17.8477	0.88736	0.0:0.0:1.0:0.0	.	534;596;479	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	L	479;534;479;596	ENSP00000348248:S479L;ENSP00000366215:S534L;ENSP00000366211:S479L;ENSP00000366233:S596L	ENSP00000348248:S479L	S	-	2	0	GABBR1	29685057	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.478000	0.97927	2.826000	0.97356	0.655000	0.94253	TCA	GABBR1	-	prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1		0.517	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29577078	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29577078	G	A	29577078	3	1	121	1	0	0	0	0	1	0	0	0	6173	1294	45	1	1134	1	GABBR1	6	29577078	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	3520565	29577078	141537989	32	19240										
IPCEF1	26034	genome.wustl.edu	37	chr6	154480965	154480965	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gaaaaccctgactttgtctcAaatggaattttcaacagagg	8	8	2	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:154480965A>G	ENST00000265198.4	-	12	1467	c.1312T>C	c.(1312-1314)Tga>Cga	p.*438R	IPCEF1_ENST00000367220.4_Nonstop_Mutation_p.*439R|IPCEF1_ENST00000519344.1_Nonstop_Mutation_p.*410R|IPCEF1_ENST00000422970.2_Nonstop_Mutation_p.*439R|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	0					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ACTTTGTCTCAAATGGAATTT	0.433																																																	0													46	49	48					6																	154480965		2203	4300	6503	SO:0001578	stop_lost	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1312T>C	6.37:g.154480965A>G	ENSP00000265198:p.*438Glyext*27		A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Nonstop_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.*439R	ENST00000265198.4	37	c.1315	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	A	7.553	0.663188	0.14710	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1853	0.54234	0.7837:0.2163:0.0:0.0	.	.	.	.	R	438;439;439;410	.	.	X	-	1	0	IPCEF1	154522657	1.000000	0.71417	0.979000	0.43373	0.202000	0.24057	5.476000	0.66793	1.990000	0.58119	0.460000	0.39030	TGA	IPCEF1	-	NULL		0.433	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	A	NM_001130699		154480965	-1	no_errors	ENST00000367220	ensembl	human	known	70_37	nonstop	SNP	0.996	G	G	154480965	A	G	154480965	4	3	121	1	0	0	0	0	0	0	0	0	7811	143	5	5	5	5	IPCEF1	6	154480965	Nonstop_Mutation	SNP	A	TCGA-EX-A1H6-01B-11D-A22X-09	124903887	154480965	16634102	33	19241										
UNC93A	54346	genome.wustl.edu	37	chr6	167708020	167708020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cacagagcagcctgtacagcGaggagggcctgggtgtcaca	15	11	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:167708020G>A	ENST00000230256.3	+	2	278	c.103G>A	c.(103-105)Gag>Aag	p.E35K	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.E35K	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTGTACAGCGAGGAGGGCCT	0.627																																																	0													135	111	119					6																	167708020		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.103G>A	6.37:g.167708020G>A	ENSP00000230256:p.Glu35Lys		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.E35K	ENST00000230256.3	37	c.103	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350896	0.41599	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.81739	-1.53;-1.53;-1.53	4.7	2.83	0.33086	Major facilitator superfamily domain, general substrate transporter (1);	0.107976	0.64402	D	0.000007	T	0.54255	0.1847	L	0.46567	1.45	0.58432	D	0.999999	B;B	0.29115	0.233;0.233	B;B	0.23716	0.048;0.048	T	0.51764	-0.8664	10	0.18276	T	0.48	-20.981	8.9878	0.36005	0.0832:0.1483:0.7685:0.0	.	35;35	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	K	35	ENSP00000421484:E35K;ENSP00000230256:E35K;ENSP00000355794:E35K	ENSP00000230256:E35K	E	+	1	0	UNC93A	167628010	1.000000	0.71417	0.584000	0.28653	0.904000	0.53231	3.696000	0.54757	0.964000	0.38108	0.462000	0.41574	GAG	UNC93A	-	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt		0.627	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	G	NM_018974		167708020	1	no_errors	ENST00000230256	ensembl	human	known	70_37	missense	SNP	0.992	A	A	167708020	G	A	167708020	3	1	121	1	0	0	0	0	1	0	0	0	17027	1059	37	1	109	1	UNC93A	6	167708020	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	13227055	167708020	3407047	34	19242										
DAGLB	221955	genome.wustl.edu	37	chr7	6474474	6474474	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttcccaatgcaacagcacaaGagcttgattctggtttccca	7	12	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:6474474G>T	ENST00000297056.6	-	4	766	c.597C>A	c.(595-597)ctC>ctA	p.L199L	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Silent_p.L72L|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Silent_p.L158L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	199					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AACAGCACAAGAGCTTGATTC	0.512																																																	0													175	167	170					7																	6474474		2203	4300	6503	SO:0001819	synonymous_variant	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.597C>A	7.37:g.6474474G>T			A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	pfam_Lipase_3	p.L199	ENST00000297056.6	37	c.597	CCDS5350.1	7																																																																																			DAGLB	-	NULL		0.512	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2	G	NM_139179		6474474	-1	no_errors	ENST00000297056	ensembl	human	known	70_37	silent	SNP	0.000	T	T	6474474	G	T	6474474	2	4	121	1	0	0	0	0	0	0	0	1	4232	929	33	3		3	DAGLB	7	6474474	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		6474474	152664189	35	19243										
ZNF679	168417	genome.wustl.edu	37	chr7	63726618	63726618	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tttcacaactacatcaacatCagataattcatactagggag	5	9	4	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:63726618C>T	ENST00000421025.1	+	5	876	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.Q203*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	203					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.Q203K(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACATCAACATCAGATAATTCA	0.338																																																	1	Substitution - Missense(1)	lung(1)											58	55	56					7																	63726618		692	1591	2283	SO:0001587	stop_gained	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.607C>T	7.37:g.63726618C>T	ENSP00000416809:p.Gln203*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q203*	ENST00000421025.1	37	c.607	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180914	0.21787	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.819	0.819	0.18785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6289	0.12491	0.0:0.5888:0.4112:0.0	.	.	.	.	X	203	.	ENSP00000255746:Q203X	Q	+	1	0	ZNF679	63364053	0.000000	0.05858	0.128000	0.21923	0.128000	0.20619	-0.820000	0.04457	0.191000	0.20236	0.194000	0.17425	CAG	ZNF679	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	C	NM_153363		63726618	1	no_errors	ENST00000255746	ensembl	human	known	70_37	nonsense	SNP	0.799	T	T	63726618	C	T	63726618	4	4	121	1	0	0	0	0	0	1	0	0	18116	827	29	1	621	1	ZNF679	7	63726618	Nonsense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	57252144	63726618	95412045	36	19244										
ZNF680	340252	genome.wustl.edu	37	chr7	63981581	63981581	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcacatttttcaggtttgtaGagtttctcaccagtatgaat	7	7	3	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:63981581G>A	ENST00000309683.6	-	4	1702	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CAGGTTTGTAGAGTTTCTCAC	0.343																																																	0													62	69	67					7																	63981581		2201	4299	6500	SO:0001819	synonymous_variant	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1551C>T	7.37:g.63981581G>A			B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L517	ENST00000309683.6	37	c.1551	CCDS34644.1	7																																																																																			ZNF680	-	pfscan_Znf_C2H2		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	G	NM_178558		63981581	-1	no_errors	ENST00000309683	ensembl	human	known	70_37	silent	SNP	0.009	A	A	63981581	G	A	63981581	2	1	121	1	0	0	0	0	0	0	0	1	18117	929	33	1		1	ZNF680	7	63981581	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	254963	63981581	95157082	37	19245										
ZAN	7455	genome.wustl.edu	37	chr7	100372997	100372997	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	agtcccactacgtgagctttGatggtagtaaccattctatc	8	10	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:100372997G>C	ENST00000348028.3	+	0	5991				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGTGAGCTTTGATGGTAGTAA	0.582																																																	0													54	55	55					7																	100372997		1974	4155	6129			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100372997G>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.D1942H	ENST00000348028.3	37	c.5824		7	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917031	0.73098	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	4.21	4.21	0.49690	von Willebrand factor, type D domain (3);	0.000000	0.43747	D	0.000534	D	0.86932	0.6052	.	.	.	0.36099	D	0.84399	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90910	0.4775	9	0.87932	D	0	.	12.7709	0.57421	0.0:0.0:1.0:0.0	.	453;1942;1943	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	H	1942;1942;1942;453	ENSP00000445943:D1942H;ENSP00000445091:D1942H;ENSP00000444427:D1942H;ENSP00000441117:D453H	ENSP00000445091:D1942H	D	+	1	0	ZAN	100210933	1.000000	0.71417	0.827000	0.32855	0.056000	0.15407	7.465000	0.80898	2.278000	0.76064	0.462000	0.41574	GAT	ZAN	-	pfam_VWF_type-D,smart_VWF_type-D		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100372997	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100372997	G	C	100372997	1	2	121	0	1	0	0	0	0	0	0	0	17544	1290	45	1		1	ZAN	7	100372997	RNA	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	36391416	100372997	58765666	38	19246										
GPR85	54329	genome.wustl.edu	37	chr7	112724152	112724152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	catttttcttcgatcgtggaCgaaaaatatcagcttgaggt	9	7	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:112724152C>T	ENST00000297146.3	-	3	1228	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.V209I|GPR85_ENST00000501255.2_Missense_Mutation_p.V209I|GPR85_ENST00000424100.1_Missense_Mutation_p.V209I	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	209					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CGATCGTGGACGAAAAATATC	0.498																																																	0													56	55	55					7																	112724152		2203	4300	6503	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.625G>A	7.37:g.112724152C>T	ENSP00000297146:p.Val209Ile		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V209I	ENST00000297146.3	37	c.625	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429901	0.25726	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.01705	-0.755	0.80722	D	1	B	0.20368	0.044	B	0.20184	0.028	T	0.13764	-1.0497	10	0.21014	T	0.42	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	209	P60893	GPR85_HUMAN	I	209	ENSP00000445808:V209I;ENSP00000297146:V209I;ENSP00000396763:V209I;ENSP00000401178:V209I	ENSP00000297146:V209I	V	-	1	0	GPR85	112511388	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.765000	0.95021	0.650000	0.86243	GTC	GPR85	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	C			112724152	-1	no_errors	ENST00000297146	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112724152	C	T	112724152	3	4	121	1	0	0	0	0	1	0	0	0	6734	536	19	2	491	2	GPR85	7	112724152	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	12351155	112724152	46414511	39	19247										
MLL3	58508	genome.wustl.edu	37	chr7	151836855	151836855	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggtgtgtttctcaatgtctcGagcagcatacaggcccagcc	11	12	2	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:151836855G>A	ENST00000262189.6	-	56	14583	c.14365C>T	c.(14365-14367)Cga>Tga	p.R4789*	KMT2C_ENST00000485655.2_5'UTR|KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R4846*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4789	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCAATGTCTCGAGCAGCATAC	0.413																																																	0													207	172	184					7																	151836855		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14365C>T	7.37:g.151836855G>A	ENSP00000262189:p.Arg4789*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4846*	ENST00000262189.6	37	c.14536	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	57|57	27.711702|27.711702	0.99972|0.99972	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	4.67|4.67	2.25|2.25	0.28309|0.28309	.|.	0.132302|.	0.33712|.	U|.	0.004626|.	.|T	.|0.57315	.|0.2045	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46816	.|-0.9164	.|4	0.02654|.	T|.	1|.	.|.	8.3143|8.3143	0.32091|0.32091	0.0:0.0721:0.4122:0.5157|0.0:0.0721:0.4122:0.5157	.|.	.|.	.|.	.|.	X|L	4789;4846;1402|2345	.|.	ENSP00000262189:R4789X|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151467788|151467788	0.943000|0.943000	0.32029|0.32029	0.996000|0.996000	0.52242|0.52242	0.983000|0.983000	0.72400|0.72400	1.111000|1.111000	0.31159|0.31159	-0.031000|-0.031000	0.13781|0.13781	-1.088000|-1.088000	0.02184|0.02184	CGA|TCG	MLL3	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151836855	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151836855	G	A	151836855	4	1	121	1	0	0	0	0	0	1	0	0	9645	1066	37	1	386	1	MLL3	7	151836855	Nonsense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	39112703	151836855	7301808	40	19248										
SLC18A1	6570	genome.wustl.edu	37	chr8	20036736	20036736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcttcctccaagaaacctgtGccttgcaagcagttgttttt	7	11	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:20036736G>A	ENST00000276373.5	-	3	650	c.384C>T	c.(382-384)ggC>ggT	p.G128G	SLC18A1_ENST00000437980.1_Silent_p.G128G|SLC18A1_ENST00000519026.1_Silent_p.G128G|SLC18A1_ENST00000265808.7_Silent_p.G128G|SLC18A1_ENST00000440926.1_Silent_p.G128G|SLC18A1_ENST00000381608.4_Silent_p.G128G	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	128					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	AGAAACCTGTGCCTTGCAAGC	0.522																																																	0													137	116	123					8																	20036736		2203	4300	6503	SO:0001819	synonymous_variant	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.384C>T	8.37:g.20036736G>A			E9PDJ5|Q9BRE4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.G128	ENST00000276373.5	37	c.384	CCDS6013.1	8																																																																																			SLC18A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.522	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	G			20036736	-1	no_errors	ENST00000276373	ensembl	human	known	70_37	silent	SNP	0.769	A	A	20036736	G	A	20036736	2	1	121	1	0	0	0	0	0	0	0	1	14455	1306	46	4		4	SLC18A1	8	20036736	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		20036736	126327286	41	19249										
ADAM9	8754	genome.wustl.edu	37	chr8	38884227	38884227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cactgtggagacatttgcttCcattgttgctcatgaattgg	10	8	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:38884227C>T	ENST00000487273.2	+	11	1106	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	343	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACATTTGCTTCCATTGTTGCT	0.403																																																	0													220	197	204					8																	38884227		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1028C>T	8.37:g.38884227C>T	ENSP00000419446:p.Ser343Phe		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.S343F	ENST00000487273.2	37	c.1028	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720260	0.89205	.	.	ENSG00000168615	ENST00000487273	T	0.63417	-0.04	5.44	5.44	0.79542	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.051001	0.85682	D	0.000000	T	0.69477	0.3115	L	0.37800	1.135	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.61347	-0.7081	10	0.08179	T	0.78	.	19.2591	0.93961	0.0:1.0:0.0:0.0	.	343	Q13443	ADAM9_HUMAN	F	343	ENSP00000419446:S343F	ENSP00000369249:S343F	S	+	2	0	ADAM9	39003384	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.440000	0.80464	2.542000	0.85734	0.460000	0.39030	TCC	ADAM9	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.403	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	C			38884227	1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38884227	C	T	38884227	3	4	121	1	0	0	0	0	1	0	0	0	253	855	30	1	1070	1	ADAM9	8	38884227	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	18847491	38884227	107479795	42	19250										
ASAP1	50807	genome.wustl.edu	37	chr8	131127903	131127903	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cagatcatcatcgctctcatCtatctcctcctgtcgaagat	5	14	5	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:131127903C>G	ENST00000518721.1	-	23	2370	c.2143G>C	c.(2143-2145)Gat>Cat	p.D715H	ASAP1_ENST00000357668.1_Missense_Mutation_p.D715H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	715					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCGCTCTCATCTATCTCCTCC	0.433																																																	0													323	277	292					8																	131127903		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2143G>C	8.37:g.131127903C>G	ENSP00000429900:p.Asp715His		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.D715H	ENST00000518721.1	37	c.2143	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.967521|4.967521	0.92855|0.92855	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.07908|.	3.15;3.15|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.285799|.	0.37348|.	N|.	0.002140|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.998;1.0|.	D;D;D|.	0.91635|.	0.928;0.928;0.999|.	T|T	0.77765|0.77765	-0.2465|-0.2465	10|5	0.72032|.	D|.	0.01|.	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	715;715;718|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	H|T	718;715;715|535;128	ENSP00000350297:D715H;ENSP00000429900:D715H|.	ENSP00000344591:D718H|.	D|R	-|-	1|2	0|0	ASAP1|ASAP1	131197085|131197085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	GAT|AGA	ASAP1	-	NULL		0.433	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	C	NM_018482		131127903	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131127903	C	G	131127903	3	3	121	1	0	0	0	0	1	0	0	0	1011	913	32	1	1278	1	ASAP1	8	131127903	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	92243676	131127903	15236119	43	19251										
KCNQ3	3786	genome.wustl.edu	37	chr8	133141782	133141782	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggtgtgtcactgtctcgcgtGatgctacgtctctgccgggg	15	11	3	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:133141782G>A	ENST00000388996.4	-	15	2766	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	KCNQ3_ENST00000521134.1_Silent_p.I662I|KCNQ3_ENST00000519445.1_Silent_p.I770I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	782					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGTCTCGCGTGATGCTACGTC	0.592																																																	0													64	59	61					8																	133141782		2203	4300	6503	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2346C>T	8.37:g.133141782G>A			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I782	ENST00000388996.4	37	c.2346	CCDS34943.1	8																																																																																			KCNQ3	-	pfam_Ankyrin-G_BS		0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	G	NM_004519		133141782	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	silent	SNP	0.998	A	A	133141782	G	A	133141782	2	1	121	1	0	0	0	0	0	0	0	1	8104	1280	45	1		1	KCNQ3	8	133141782	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	2013879	133141782	13222240	44	19252										
FLJ46321	389763	genome.wustl.edu	37	chr9	84607539	84607539	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttgctacgtcctcagagcaaAatttcagagctatctgtgtc	8	10	3	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:84607539A>T	ENST00000344803.2	+	4	2201	c.2154A>T	c.(2152-2154)aaA>aaT	p.K718N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	718					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCAGAGCAAAATTTCAGAGC	0.478																																																	0													53	49	50					9																	84607539		1836	4083	5919	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2154A>T	9.37:g.84607539A>T	ENSP00000341988:p.Lys718Asn			Missense_Mutation	SNP	NULL	p.K718N	ENST00000344803.2	37	c.2154	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	A	8.475	0.858513	0.17178	.	.	ENSG00000214929	ENST00000344803	T	0.07021	3.23	2.71	-1.39	0.08997	.	1.595400	0.03879	N	0.276879	T	0.05456	0.0144	N	0.24115	0.695	0.09310	N	1	B	0.31790	0.34	B	0.30251	0.113	T	0.34254	-0.9836	10	0.27082	T	0.32	0.0347	3.2544	0.06826	0.5778:0.0:0.1533:0.2689	.	718	Q6ZQQ2	F75D1_HUMAN	N	718	ENSP00000341988:K718N	ENSP00000341988:K718N	K	+	3	2	FAM75D1	83797359	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.037000	0.03557	-0.293000	0.08986	0.459000	0.35465	AAA	SPATA31D1	-	NULL		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	A	NM_001001670		84607539	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	T	T	84607539	A	T	84607539	3	4	121	1	0	0	0	0	1	0	0	0	5950	11	1	5	2168	5	FLJ46321	9	84607539	Missense_Mutation	SNP	A	TCGA-EX-A1H6-01B-11D-A22X-09		84607539	56605892	45	19253										
C9orf80	58493	genome.wustl.edu	37	chr9	115456478	115456478	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcttttctctttgtccagttCtgccaagattgcaactctat	5	11	4	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:115456478C>T	ENST00000374242.4	-	3	366	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	INIP_ENST00000374234.1_5'UTR|INIP_ENST00000374238.1_5'UTR|INIP_ENST00000374236.1_5'UTR|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	21					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											TTGTCCAGTTCTGCCAAGATT	0.353																																																	0													152	140	144					9																	115456478		2203	4300	6503	SO:0001583	missense	58493			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"hSSB-interacting protein 1", "sensor of single-strand DNA complex subunit C", "minute INTS3/hSSB-associated element"	613273	"chromosome 9 open reading frame 80"	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.61G>A	9.37:g.115456478C>T	ENSP00000363360:p.Glu21Lys		Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	NULL	p.E21K	ENST00000374242.4	37	c.61	CCDS6785.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566593	0.86439	.	.	ENSG00000148153	ENST00000374242	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.72894	2.215	0.80722	D	1	P	0.40534	0.72	B	0.35353	0.201	T	0.69079	-0.5240	9	0.59425	D	0.04	-31.3261	19.5958	0.95536	0.0:1.0:0.0:0.0	.	21	Q9NRY2	SOSSC_HUMAN	K	21	.	ENSP00000363360:E21K	E	-	1	0	C9orf80	114496299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.666000	0.74446	2.806000	0.96561	0.655000	0.94253	GAA	INIP	-	NULL		0.353	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INIP	HGNC	protein_coding	OTTHUMT00000053692.2	C	NM_021218		115456478	-1	no_errors	ENST00000374242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115456478	C	T	115456478	3	4	121	1	0	0	0	0	1	0	0	0	2503	922	32	1	265	1	C9orf80	9	115456478	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	30848939	115456478	25756953	46	19254										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123202133	123202133	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ccatcacactgactttagcaGaaggctgactcttggaactc	8	12	2	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:123202133G>A	ENST00000349780.4	-	24	3445	c.3266C>T	c.(3265-3267)tCt>tTt	p.S1089F	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1089F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1048F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1057F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1089	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GACTTTAGCAGAAGGCTGACT	0.433																																																	0													92	84	87					9																	123202133		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3266C>T	9.37:g.123202133G>A	ENSP00000343818:p.Ser1089Phe		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.S1089F	ENST00000349780.4	37	c.3266	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560310	0.45590	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.43688	2.52;3.06;2.65;2.55;0.94;1.21	5.67	5.67	0.87782	.	0.095175	0.47093	D	0.000244	T	0.54334	0.1852	L	0.36672	1.1	0.33000	D	0.526115	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.977;0.977;0.977;0.999;0.95;0.977	T	0.64846	-0.6311	10	0.87932	D	0	.	13.563	0.61802	0.0:0.0:0.8452:0.1548	.	99;858;1057;1089;1089;483	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	F	1057;1048;1089;1089;483;99;861	ENSP00000354065:S1057F;ENSP00000352258:S1048F;ENSP00000343818:S1089F;ENSP00000353317:S1089F;ENSP00000400395:S483F;ENSP00000409941:S99F	ENSP00000341695:S861F	S	-	2	0	CDK5RAP2	122241954	1.000000	0.71417	0.950000	0.38849	0.225000	0.24961	4.466000	0.60148	2.667000	0.90743	0.563000	0.77884	TCT	CDK5RAP2	-	NULL		0.433	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	G	NM_018249		123202133	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.920	A	A	123202133	G	A	123202133	3	1	121	1	0	0	0	0	1	0	0	0	3151	942	33	1	2475	1	CDK5RAP2	9	123202133	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	7745655	123202133	18011298	47	19255										
OR1Q1	158131	genome.wustl.edu	37	chr9	125377520	125377520	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ctcataggccaactaatcttCtgtgcagataacagaatccc	6	12	3	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:125377520C>T	ENST00000297913.2	+	1	573	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AACTAATCTTCTGTGCAGATA	0.488																																																	0													182	161	168					9																	125377520		2203	4300	6503	SO:0001819	synonymous_variant	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.504C>T	9.37:g.125377520C>T			Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000297913.2	37	c.504	CCDS35125.1	9																																																																																			OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	C			125377520	1	no_errors	ENST00000297913	ensembl	human	known	70_37	silent	SNP	0.998	T	T	125377520	C	T	125377520	2	4	121	1	0	0	0	0	0	0	0	1	10995	912	32	1		1	OR1Q1	9	125377520	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	2175387	125377520	15835911	48	19256										
C10orf18	54906	genome.wustl.edu	37	chr10	5777311	5777311	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttgtacagaaaaccaaattgGataggaaaaaccaagaagct	8	6	0	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:5777311G>C	ENST00000328090.5	+	12	1874	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	417																	AACCAAATTGGATAGGAAAAA	0.408																																																	0													155	151	152					10																	5777311		1825	4087	5912	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1249G>C	10.37:g.5777311G>C	ENSP00000328426:p.Asp417His		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.D417H	ENST00000328090.5	37	c.1249	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502953	0.64298	.	.	ENSG00000108021	ENST00000328090	D	0.98876	-5.2	5.78	3.91	0.45181	.	0.654033	0.14762	N	0.299883	D	0.98049	0.9357	L	0.56769	1.78	0.25736	N	0.985217	D	0.62365	0.991	P	0.54401	0.751	D	0.94251	0.7493	10	0.59425	D	0.04	.	9.0417	0.36322	0.1685:0.0:0.8315:0.0	.	417	Q5VWN6	F208B_HUMAN	H	417	ENSP00000328426:D417H	ENSP00000328426:D417H	D	+	1	0	C10orf18	5817317	0.959000	0.32827	0.969000	0.41365	0.987000	0.75469	1.315000	0.33608	0.781000	0.33589	0.655000	0.94253	GAT	FAM208B	-	NULL		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5777311	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.933	C	C	5777311	G	C	5777311	3	2	121	1	0	0	0	0	1	0	0	0	1600	1174	41	1	1283	1	C10orf18	10	5777311	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		5777311	129757436	49	19257										
SUPV3L1	6832	genome.wustl.edu	37	chr10	70968684	70968684	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cagacatgctgaaacagctaGaaaaagagtggatgacacaa	10	7	0	5			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:70968684G>C	ENST00000359655.4	+	15	2314	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	752	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAACAGCTAGAAAAAGAGTG	0.478																																																	0													69	64	66					10																	70968684		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2254G>C	10.37:g.70968684G>C	ENSP00000352678:p.Glu752Gln		A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.E752Q	ENST00000359655.4	37	c.2254	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345898	0.11126	.	.	ENSG00000156502	ENST00000359655	T	0.30182	1.54	6.01	3.81	0.43845	.	0.148455	0.64402	N	0.000012	T	0.21631	0.0521	L	0.33485	1.01	0.34143	D	0.666636	B	0.06786	0.001	B	0.04013	0.001	T	0.21314	-1.0249	10	0.14656	T	0.56	-8.8999	12.6045	0.56514	0.0728:0.1245:0.8028:0.0	.	752	Q8IYB8	SUV3_HUMAN	Q	752	ENSP00000352678:E752Q	ENSP00000352678:E752Q	E	+	1	0	SUPV3L1	70638690	1.000000	0.71417	0.056000	0.19401	0.812000	0.45895	4.214000	0.58527	1.516000	0.48900	0.650000	0.86243	GAA	SUPV3L1	-	NULL		0.478	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	G	NM_003171		70968684	1	no_errors	ENST00000359655	ensembl	human	known	70_37	missense	SNP	0.683	C	C	70968684	G	C	70968684	3	2	121	1	0	0	0	0	1	0	0	0	15432	943	33	1	2312	1	SUPV3L1	10	70968684	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	65191373	70968684	64566063	50	19258										
GFRA1	2674	genome.wustl.edu	37	chr10	117884787	117884787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	attcaaacagttgggcttctCcctctcttcataggagcaca	7	12	4	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:117884787C>T	ENST00000355422.6	-	6	1265	c.715G>A	c.(715-717)Gag>Aag	p.E239K	GFRA1_ENST00000544592.1_Missense_Mutation_p.E118K|GFRA1_ENST00000369236.1_Missense_Mutation_p.E234K|GFRA1_ENST00000439649.3_Missense_Mutation_p.E234K	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	239					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTGGGCTTCTCCCTCTCTTCA	0.542																																					Ovarian(128;329 1725 45498 46808 50759)												0													72	62	65					10																	117884787		2203	4300	6503	SO:0001583	missense	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.715G>A	10.37:g.117884787C>T	ENSP00000347591:p.Glu239Lys		A8KA21|O15507|O43912	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.E239K	ENST00000355422.6	37	c.715	CCDS44481.1	10	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900649	0.72754	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.48836	1.39;0.8	5.75	5.75	0.90469	.	0.282128	0.38605	N	0.001633	T	0.50718	0.1632	M	0.74881	2.28	0.58432	D	0.999999	B;B	0.31968	0.284;0.349	B;B	0.24155	0.031;0.051	T	0.51252	-0.8729	10	0.42905	T	0.14	-28.2622	19.9522	0.97203	0.0:1.0:0.0:0.0	.	239;234	P56159;P56159-2	GFRA1_HUMAN;.	K	239;234;234;118;234	ENSP00000358239:E234K;ENSP00000442179:E118K	ENSP00000347591:E234K	E	-	1	0	GFRA1	117874777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.725000	0.93324	0.655000	0.94253	GAG	GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.542	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	C	NM_145793		117884787	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117884787	C	T	117884787	3	4	121	1	0	0	0	0	1	0	0	0	6366	864	30	1	706	1	GFRA1	10	117884787	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	46916103	117884787	17649960	51	19259										
MUC5B	727897	genome.wustl.edu	37	chr11	1257694	1257694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gggacccaccctacaagataCgctacatggggatcttcctg	10	13	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr11:1257694C>T	ENST00000529681.1	+	24	3017	c.2959C>T	c.(2959-2961)Cgc>Tgc	p.R987C	MUC5B_ENST00000447027.1_Missense_Mutation_p.R990C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	987	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTACAAGATACGCTACATGGG	0.622																																																	0													71	81	78					11																	1257694		2004	4157	6161	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2959C>T	11.37:g.1257694C>T	ENSP00000436812:p.Arg987Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R990C	ENST00000529681.1	37	c.2968	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946123	0.34377	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60424	0.19;0.19	4.18	3.23	0.37069	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.79387	0.4437	M	0.91612	3.225	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.928;0.991;0.993	T	0.69595	-0.5103	9	0.87932	D	0	.	11.6066	0.51035	0.1864:0.8136:0.0:0.0	.	987;1680;990	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	C	987;990;988;1057	ENSP00000436812:R987C;ENSP00000415793:R990C	ENSP00000343037:R988C	R	+	1	0	MUC5B	1214270	0.941000	0.31946	0.020000	0.16555	0.503000	0.33858	1.606000	0.36826	0.915000	0.36847	0.462000	0.41574	CGC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1257694	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.032	T	T	1257694	C	T	1257694	3	4	121	1	0	0	0	0	1	0	0	0	10002	536	19	2	3062	2	MUC5B	11	1257694	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		1257694	133748822	52	19260										
CEP164	22897	genome.wustl.edu	37	chr11	117278703	117278703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggccacaacctgctgaagaaGaaagaggagaagctgaatca	12	8	1	6			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr11:117278703G>C	ENST00000278935.3	+	28	3711	c.3564G>C	c.(3562-3564)aaG>aaC	p.K1188N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1188					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGCTGAAGAAGAAAGAGGAGA	0.537																																																	0													100	81	88					11																	117278703		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3564G>C	11.37:g.117278703G>C	ENSP00000278935:p.Lys1188Asn		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.K1188N	ENST00000278935.3	37	c.3564	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693926	0.30052	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.34667	1.35	5.17	4.01	0.46588	.	0.000000	0.49916	D	0.000125	T	0.54062	0.1835	M	0.71581	2.175	0.35444	D	0.795152	D;D;D	0.71674	0.998;0.996;0.996	D;P;P	0.66979	0.948;0.876;0.876	T	0.65590	-0.6131	10	0.72032	D	0.01	-30.1599	10.3212	0.43767	0.1326:0.0:0.8674:0.0	.	962;1188;1191	Q9NTH6;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	1188;1099	ENSP00000278935:K1188N	ENSP00000278935:K1188N	K	+	3	2	CEP164	116783913	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.776000	0.55356	2.560000	0.86352	0.591000	0.81541	AAG	CEP164	-	NULL		0.537	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117278703	1	no_errors	ENST00000278935	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117278703	G	C	117278703	3	2	121	1	0	0	0	0	1	0	0	0	3254	933	33	1	3666	1	CEP164	11	117278703	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	116021009	117278703	17727813	53	19261										
TAS2R50	259296	genome.wustl.edu	37	chr12	11139426	11139426	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aacaaataaaaccattattaGaattgaaaaaaaaatgtata	3	3	0	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:11139426G>A	ENST00000506868.1	-	1	85	c.34C>T	c.(34-36)Cta>Tta	p.L12L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	12					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L12V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ACCATTATTAGAATTGAAAAA	0.318																																																	1	Substitution - Missense(1)	ovary(1)											31	37	35					12																	11139426		2181	4285	6466	SO:0001819	synonymous_variant	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.34C>T	12.37:g.11139426G>A			P59545|Q2M255|Q645Y0	Silent	SNP	pfam_TAS2_rcpt	p.L12	ENST00000506868.1	37	c.34	CCDS8638.1	12																																																																																			TAS2R50	-	pfam_TAS2_rcpt		0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	G	NM_176890		11139426	-1	no_errors	ENST00000506868	ensembl	human	known	70_37	silent	SNP	0.000	A	A	11139426	G	A	11139426	2	1	121	1	0	0	0	0	0	0	0	1	15614	933	33	1		1	TAS2R50	12	11139426	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		11139426	122712469	54	19262										
MANSC1	54682	genome.wustl.edu	37	chr12	12491469	12491469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gctgtttttcgagtgtcgaaGatcatcaagttacatgcttt	9	7	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:12491469G>C	ENST00000535902.1	-	3	812	c.249C>G	c.(247-249)atC>atG	p.I83M	MANSC1_ENST00000396349.3_Missense_Mutation_p.I49M|MANSC1_ENST00000545735.1_Missense_Mutation_p.I2M			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	83	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GAGTGTCGAAGATCATCAAGT	0.403																																																	0													175	170	172					12																	12491469		2203	4300	6503	SO:0001583	missense	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.249C>G	12.37:g.12491469G>C	ENSP00000438205:p.Ile83Met		Q8NEC1|Q9NW60	Missense_Mutation	SNP	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.I83M	ENST00000535902.1	37	c.249	CCDS8648.1	12	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448256	0.63178	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.28454	1.61;1.61;1.61	5.68	2.83	0.33086	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.207947	0.24256	N	0.040133	T	0.46054	0.1373	M	0.61703	1.905	0.34640	D	0.720524	D;D;D	0.89917	0.959;0.959;1.0	P;P;D	0.87578	0.791;0.791;0.998	T	0.56811	-0.7917	10	0.87932	D	0	-13.3477	5.1318	0.14915	0.1798:0.1724:0.6478:0.0	.	17;49;83	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	M	83;49;2;2	ENSP00000438205:I83M;ENSP00000379638:I49M;ENSP00000445303:I2M	ENSP00000347765:I2M	I	-	3	3	MANSC1	12382736	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.261000	0.32980	0.730000	0.32425	0.563000	0.77884	ATC	MANSC1	-	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANSC1	HGNC	protein_coding	OTTHUMT00000400144.1	G	NM_018050		12491469	-1	no_errors	ENST00000535902	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12491469	G	C	12491469	3	2	121	1	0	0	0	0	1	0	0	0	9247	932	33	1	1054	1	MANSC1	12	12491469	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	1352043	12491469	121360426	55	19263										
SLC38A4	55089	genome.wustl.edu	37	chr12	47170786	47170786	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttgcatttttctccgggaccGactggaaaaagaaagaacac	9	9	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:47170786G>A	ENST00000447411.1	-	12	1281	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	SLC38A4_ENST00000266579.4_Splice_Site_p.R359W	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	359					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTCCGGGACCGACTGGAAAAA	0.353																																																	0													73	75	74					12																	47170786		2203	4299	6502	SO:0001630	splice_region_variant	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1074-1C>T	12.37:g.47170786G>A			A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R359W	ENST00000447411.1	37	c.1075	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262998	0.80358	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02472	4.28;4.28	5.96	5.06	0.68205	.	0.059006	0.64402	D	0.000001	T	0.18551	0.0445	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01428	-1.1357	10	0.87932	D	0	-11.2441	16.6514	0.85203	0.0:0.0:0.8691:0.1309	.	359	Q969I6	S38A4_HUMAN	W	359	ENSP00000389843:R359W;ENSP00000266579:R359W	ENSP00000266579:R359W	R	-	1	2	SLC38A4	45457053	1.000000	0.71417	0.997000	0.53966	0.579000	0.36224	7.912000	0.87465	1.514000	0.48869	0.655000	0.94253	CGG	SLC38A4	-	pfam_AA_transpt_TM		0.353	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	G		Missense_Mutation	47170786	-1	no_errors	ENST00000266579	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47170786	G	A	47170786	5	1	121	1	0	0	0	0	0	0	1	0	14636	1072	37	1	588	1	SLC38A4	12	47170786	Splice_Site	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	34679317	47170786	86681109	56	19264										
MLL2	8085	genome.wustl.edu	37	chr12	49436343	49436343	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aggttacgcagagacaccaaCctagaatccaggaacgggga	12	10	0	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:49436343C>A	ENST00000301067.7	-	27	5867		c.e27+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGACACCAACCTAGAATCCA	0.582																																																	0													64	72	70					12																	49436343		2052	4185	6237	SO:0001630	splice_region_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5867+1G>T	12.37:g.49436343C>A			O14687	Splice_Site	SNP	-	e27+1	ENST00000301067.7	37	c.5867+1	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716874	0.68844	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47722610	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.558000	0.60789	2.514000	0.84764	0.561000	0.74099	.	MLL2	-	-		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C		Intron	49436343	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	49436343	C	A	49436343	5	1	121	1	0	0	0	0	0	0	1	0	9644	521	18	4	10857	4	MLL2	12	49436343	Splice_Site	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	2265557	49436343	84415552	57	19265										
PCDH17	27253	genome.wustl.edu	37	chr13	58206826	58206826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcgactgcagcctgggcttcCgcctgcagagcgcggcggcg	16	15	0	1	rs143494894		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr13:58206826C>T	ENST00000377918.3	+	1	172	c.146C>T	c.(145-147)cCg>cTg	p.P49L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTGGGCTTCCGCCTGCAGAG	0.677																																					Melanoma(72;952 1291 1619 12849 33676)												0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	24	26	25		146	1.6	1	13	dbSNP_134	25	0,8598		0,0,4299	no	missense	PCDH17	NM_001040429.2	98	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	49/1160	58206826	1,13003	2203	4299	6502	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.146C>T	13.37:g.58206826C>T	ENSP00000367151:p.Pro49Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P49L	ENST00000377918.3	37	c.146	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	1.894	-0.454782	0.04540	2.27E-4	0.0	ENSG00000118946	ENST00000377918	T	0.50548	0.74	5.55	1.64	0.23874	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.432209	0.27826	N	0.017688	T	0.29914	0.0748	L	0.33339	1.005	0.49051	D	0.99974	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.05517	-1.0880	9	.	.	.	.	6.2325	0.20742	0.1365:0.5857:0.0:0.2778	.	49;49	O14917-2;O14917	.;PCD17_HUMAN	L	49	ENSP00000367151:P49L	.	P	+	2	0	PCDH17	57104827	0.551000	0.26497	0.989000	0.46669	0.864000	0.49448	0.167000	0.16602	0.455000	0.26910	0.655000	0.94253	CCG	PCDH17	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58206826	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	0.978	T	T	58206826	C	T	58206826	3	4	121	1	0	0	0	0	1	0	0	0	11536	652	23	2	148	2	PCDH17	13	58206826	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		58206826	56963052	58	19266										
UGGT2	55757	genome.wustl.edu	37	chr13	96508441	96508441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	atcaacaaaaatgattttgtCcactgctagtgggaaaagaa	8	6	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr13:96508441C>G	ENST00000376747.3	-	34	4049	c.3979G>C	c.(3979-3981)Gac>Cac	p.D1327H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1327	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATGATTTTGTCCACTGCTAGT	0.348																																																	0													95	97	97					13																	96508441		2203	4300	6503	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3979G>C	13.37:g.96508441C>G	ENSP00000365938:p.Asp1327His		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.D1327H	ENST00000376747.3	37	c.3979	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935002	0.73442	.	.	ENSG00000102595	ENST00000376747	T	0.30182	1.54	5.67	4.79	0.61399	.	0.147301	0.64402	D	0.000013	T	0.44393	0.1291	L	0.45698	1.435	0.80722	D	1	P	0.49559	0.925	P	0.59761	0.863	T	0.38351	-0.9665	10	0.72032	D	0.01	-3.3502	12.5694	0.56328	0.0:0.9156:0.0:0.0844	.	1327	Q9NYU1	UGGG2_HUMAN	H	1327	ENSP00000365938:D1327H	ENSP00000365938:D1327H	D	-	1	0	UGGT2	95306442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.114000	0.50383	1.299000	0.44798	0.655000	0.94253	GAC	UGGT2	-	pfam_Glyco_trans_8		0.348	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	C	NM_020121		96508441	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96508441	C	G	96508441	3	3	121	1	0	0	0	0	1	0	0	0	16973	855	30	1	595	1	UGGT2	13	96508441	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	38301615	96508441	18661437	59	19267										
OR4K1	79544	genome.wustl.edu	37	chr14	20403832	20403832	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tgaatattggatacatggctCacacaaatgaatcgatggtg	10	6	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:20403832C>A	ENST00000285600.4	+	1	66	c.7C>A	c.(7-9)Cac>Aac	p.H3N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATACATGGCTCACACAAATGA	0.328																																																	0													264	302	289					14																	20403832		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.7C>A	14.37:g.20403832C>A	ENSP00000285600:p.His3Asn		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H3N	ENST00000285600.4	37	c.7	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	3.106	-0.183690	0.06340	.	.	ENSG00000155249	ENST00000285600	T	0.02944	4.1	4.74	3.81	0.43845	.	0.440276	0.19681	N	0.108515	T	0.01320	0.0043	N	0.03084	-0.415	0.22710	N	0.998822	B	0.02656	0.0	B	0.01281	0.0	T	0.50259	-0.8849	10	0.20046	T	0.44	.	5.9744	0.19371	0.0:0.6845:0.2094:0.106	.	3	Q8NGD4	OR4K1_HUMAN	N	3	ENSP00000285600:H3N	ENSP00000285600:H3N	H	+	1	0	OR4K1	19473672	0.000000	0.05858	1.000000	0.80357	0.343000	0.28985	-0.726000	0.04936	2.459000	0.83118	0.561000	0.74099	CAC	OR4K1	-	NULL		0.328	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20403832	1	no_errors	ENST00000285600	ensembl	human	known	70_37	missense	SNP	0.796	A	A	20403832	C	A	20403832	3	1	121	1	0	0	0	0	1	0	0	0	11091	826	29	3	9	3	OR4K1	14	20403832	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		20403832	86945708	60	19268										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21769221	21769221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gagaccgcaaggcgcgggcaGaaggcgggatggcggcagcg	21	10	0	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:21769221G>A	ENST00000400017.2	+	3	315	c.315G>A	c.(313-315)caG>caA	p.Q105Q	RPGRIP1_ENST00000206660.6_Silent_p.Q105Q|RPGRIP1_ENST00000556336.1_Silent_p.Q105Q|RPGRIP1_ENST00000557771.1_Silent_p.Q105Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	105					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCGCGGGCAGAAGGCGGGAT	0.731																																																	0													17	21	20					14																	21769221		1950	4108	6058	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.315G>A	14.37:g.21769221G>A			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q105	ENST00000400017.2	37	c.315	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL		0.731	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21769221	1	no_errors	ENST00000206660	ensembl	human	known	70_37	silent	SNP	0.000	A	A	21769221	G	A	21769221	2	1	121	1	0	0	0	0	0	0	0	1	13579	933	33	1		1	RPGRIP1	14	21769221	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	1365389	21769221	85580319	61	19269										
FAM161B	145483	genome.wustl.edu	37	chr14	74411422	74411422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ctcggccttcttccgggcctCgcgcagcgtcatgcggaatg	13	15	2	0	rs371012373		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:74411422C>T	ENST00000534936.1	-	3	646	c.541G>A	c.(541-543)Gag>Aag	p.E181K	FAM161B_ENST00000286544.3_Missense_Mutation_p.E244K			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	181										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTCCGGGCCTCGCGCAGCGTC	0.672													C|||	1	0.000199681	0	0	5008	,	,		20207	0		0	False		,,,				2504	0.001																0								C	LYS/GLU	0,4406		0,0,2203	25	26	26		730	5.2	1	14		26	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM161B	NM_152445.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	244/711	74411422	1,13005	2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.541G>A	14.37:g.74411422C>T	ENSP00000445326:p.Glu181Lys		B7Z882|J3KNA2	Missense_Mutation	SNP	pfam_UPF0564	p.E244K	ENST00000534936.1	37	c.730		14	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001465	0.74818	0.0	1.16E-4	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.32515	1.45;1.45	5.17	5.17	0.71159	.	0.073354	0.53938	D	0.000045	T	0.62913	0.2467	M	0.87456	2.885	0.47009	D	0.999282	D	0.89917	1.0	D	0.91635	0.999	T	0.67526	-0.5648	10	0.54805	T	0.06	-22.7985	18.8556	0.92251	0.0:1.0:0.0:0.0	.	181	Q96MY7	F161B_HUMAN	K	244;181	ENSP00000286544:E244K;ENSP00000445326:E181K	ENSP00000286544:E244K	E	-	1	0	FAM161B	73481175	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	4.932000	0.63476	2.688000	0.91661	0.563000	0.77884	GAG	FAM161B	-	pfam_UPF0564		0.672	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	FAM161B	HGNC	protein_coding		C	NM_152445		74411422	-1	no_errors	ENST00000286544	ensembl	human	known	70_37	missense	SNP	0.997	T	T	74411422	C	T	74411422	3	4	121	1	0	0	0	0	1	0	0	0	5488	893	31	1	1430	1	FAM161B	14	74411422	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	52642201	74411422	32938118	62	19270										
SMAD6	4091	genome.wustl.edu	37	chr15	67073399	67073399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	agcgtggcgtactgggagcaCcggacgcgcgtgggccgcct	18	13	0	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr15:67073399C>T	ENST00000288840.5	+	4	2048	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	SMAD6_ENST00000338426.4_Silent_p.H78H	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	339	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						ACTGGGAGCACCGGACGCGCG	0.667																																					Esophageal Squamous(179;72 2004 22333 39628 47290)												0													34	27	29					15																	67073399		2196	4298	6494	SO:0001819	synonymous_variant	4091			BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1017C>T	15.37:g.67073399C>T			A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H339	ENST00000288840.5	37	c.1017	CCDS10221.1	15																																																																																			SMAD6	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.667	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD6	HGNC	protein_coding	OTTHUMT00000256953.2	C	NM_005585		67073399	1	no_errors	ENST00000288840	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67073399	C	T	67073399	2	4	121	1	0	0	0	0	0	0	0	1	14792	506	18	4		4	SMAD6	15	67073399	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		67073399	35457993	63	19271										
PSTPIP1	9051	genome.wustl.edu	37	chr15	77310554	77310554	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cggcttctggatggcaggaaGatgtgcaaagacatggagga	16	6	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr15:77310554G>A	ENST00000558012.1	+	2	591	c.102G>A	c.(100-102)aaG>aaA	p.K34K	PSTPIP1_ENST00000379595.3_Silent_p.K34K|PSTPIP1_ENST00000559295.1_Silent_p.K34K|PSTPIP1_ENST00000267939.5_Silent_p.K33K	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	34	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)		p.K34N(1)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ATGGCAGGAAGATGTGCAAAG	0.627																																																	1	Substitution - Missense(1)	ovary(1)											32	39	36					15																	77310554		2152	4241	6393	SO:0001819	synonymous_variant	9051			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.102G>A	15.37:g.77310554G>A			B5BU74|B5BUK4|O43585|O95657	Silent	SNP	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH	p.K99	ENST00000558012.1	37	c.297	CCDS45312.1	15																																																																																			PSTPIP1	-	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH		0.627	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	G	NM_003978		77310554	1	no_errors	ENST00000559785	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77310554	G	A	77310554	2	1	121	1	0	0	0	0	0	0	0	1	12748	933	33	1		1	PSTPIP1	15	77310554	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	10237155	77310554	25220838	64	19272										
SPNS1	83985	genome.wustl.edu	37	chr16	28990592	28990592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gccgaccagcggagccggatGctcagcatcttctactttgc	11	14	3	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr16:28990592G>A	ENST00000311008.11	+	4	938	c.561G>A	c.(559-561)atG>atA	p.M187I	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.M232I|SPNS1_ENST00000334536.8_Missense_Mutation_p.M187I|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.M114I|SPNS1_ENST00000352260.7_Missense_Mutation_p.M165I|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	187					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGAGCCGGATGCTCAGCATCT	0.657																																																	0													66	69	68					16																	28990592		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.561G>A	16.37:g.28990592G>A	ENSP00000309945:p.Met187Ile		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M187I	ENST00000311008.11	37	c.561	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017864	0.75161	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.49	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52573	1.65	0.80722	D	1	B;P;B;D;P	0.65815	0.357;0.562;0.107;0.995;0.562	B;B;P;D;B	0.76071	0.32;0.413;0.449;0.987;0.316	T	0.69124	-0.5228	10	0.66056	D	0.02	.	14.7147	0.69259	0.0:0.0:1.0:0.0	.	114;165;187;187;187	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	I	187;187;165;114	ENSP00000309945:M187I;ENSP00000335494:M187I;ENSP00000306050:M165I;ENSP00000318228:M114I	ENSP00000309945:M187I	M	+	3	0	SPNS1	28898093	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.997000	0.70646	2.339000	0.79563	0.561000	0.74099	ATG	SPNS1	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	G	NM_032038		28990592	1	no_errors	ENST00000311008	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28990592	G	A	28990592	3	1	121	1	0	0	0	0	1	0	0	0	15104	1319	46	4	575	4	SPNS1	16	28990592	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		28990592	61364161	65	19273										
SLC6A2	6530	genome.wustl.edu	37	chr16	55727946	55727946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggattgatgccgcaactcagAtatttttttccttgggggct	11	8	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr16:55727946A>G	ENST00000379906.2	+	6	1198	c.943A>G	c.(943-945)Ata>Gta	p.I315V	SLC6A2_ENST00000414754.3_Missense_Mutation_p.I315V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.I315V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.I210V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.I315V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.I315V|SLC6A2_ENST00000566163.1_Missense_Mutation_p.I270V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	315					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGCAACTCAGATATTTTTTTC	0.443																																																	0													150	145	147					16																	55727946		2198	4300	6498	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.943A>G	16.37:g.55727946A>G	ENSP00000369237:p.Ile315Val		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.I315V	ENST00000379906.2	37	c.943	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721988	0.30503	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75704	-0.96;-0.96;-0.96	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	L	0.52759	1.655	0.54753	D	0.999989	P;B;P;P	0.40578	0.722;0.208;0.722;0.722	B;B;B;B	0.41946	0.371;0.108;0.371;0.252	T	0.71715	-0.4509	10	0.39692	T	0.17	.	13.9212	0.63933	1.0:0.0:0.0:0.0	.	315;29;210;315	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	V	315;29;315;315	ENSP00000394956:I315V;ENSP00000369237:I315V;ENSP00000219833:I315V	ENSP00000219833:I315V	I	+	1	0	SLC6A2	54285447	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.994000	0.93529	1.784000	0.52394	0.459000	0.35465	ATA	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.443	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	A			55727946	1	no_errors	ENST00000219833	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55727946	A	G	55727946	3	3	121	1	0	0	0	0	1	0	0	0	14713	333	12	5	1056	5	SLC6A2	16	55727946	Missense_Mutation	SNP	A	TCGA-EX-A1H6-01B-11D-A22X-09	26737354	55727946	34626807	66	19274										
TNFSF12	8742	genome.wustl.edu	37	chr17	7452616	7452616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cagtttggggagccgggcatCgctgtccgcccaggtgaggc	17	12	0	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:7452616C>T	ENST00000293825.6	+	1	409	c.146C>T	c.(145-147)tCg>tTg	p.S49L	TNFSF12_ENST00000557233.1_Missense_Mutation_p.S49L|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.S49L	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	49					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				AGCCGGGCATCGCTGTCCGCC	0.741																																																	0													2	2	2					17																	7452616		1812	3556	5368	SO:0001583	missense	407977			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.146C>T	17.37:g.7452616C>T	ENSP00000293825:p.Ser49Leu		Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.S49L	ENST00000293825.6	37	c.146	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523461	0.64747	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D	0.97620	-4.46;-4.46	5.01	4.04	0.47022	.	0.512179	0.17835	N	0.160397	D	0.92718	0.7685	N	0.24115	0.695	0.24947	N	0.991819	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	D	0.87200	0.2240	10	0.72032	D	0.01	-0.528	9.3142	0.37924	0.0:0.9027:0.0:0.0973	.	49;49	Q8IZK7;O43508	.;TNF12_HUMAN	L	49	ENSP00000451451:S49L;ENSP00000293826:S49L	ENSP00000293825:S49L	S	+	2	0	TNFSF12-TNFSF13;TNFSF12	7393340	0.996000	0.38824	0.988000	0.46212	0.981000	0.71138	1.346000	0.33964	1.349000	0.45751	0.561000	0.74099	TCG	TNFSF12-TNFSF13	-	NULL		0.741	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226951.2	C	NM_003809		7452616	1	no_errors	ENST00000293826	ensembl	human	known	70_37	missense	SNP	0.985	T	T	7452616	C	T	7452616	3	4	121	1	0	0	0	0	1	0	0	0	16333	893	31	1	148	1	TNFSF12	17	7452616	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		7452616	73742594	67	19275										
HS3ST3B1	9953	genome.wustl.edu	37	chr17	14205134	14205134	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gccagccaccccactggcttCaggcaaggagatggccgagg	14	14	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:14205134C>A	ENST00000360954.2	+	1	735	c.299C>A	c.(298-300)tCa>tAa	p.S100*	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	100					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CCACTGGCTTCAGGCAAGGAG	0.731																																																	0													3	5	4					17																	14205134		2039	4032	6071	SO:0001587	stop_gained	9953			AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"Sulfotransferases, membrane-bound"	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.299C>A	17.37:g.14205134C>A	ENSP00000354213:p.Ser100*		B3KN58|D3DTS6	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.S100*	ENST00000360954.2	37	c.299	CCDS11167.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.192624	0.98125	.	.	ENSG00000125430	ENST00000360954	.	.	.	4.71	2.46	0.29980	.	1.638410	0.04522	U	0.384731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9358	0.24466	0.1794:0.7149:0.0:0.1058	.	.	.	.	X	100	.	ENSP00000354213:S100X	S	+	2	0	HS3ST3B1	14145859	0.871000	0.30034	0.000000	0.03702	0.302000	0.27658	1.240000	0.32731	0.362000	0.24319	0.555000	0.69702	TCA	HS3ST3B1	-	NULL		0.731	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3B1	HGNC	protein_coding	OTTHUMT00000129998.1	C	NM_006041		14205134	1	no_errors	ENST00000360954	ensembl	human	known	70_37	nonsense	SNP	0.007	A	A	14205134	C	A	14205134	4	1	121	1	0	0	0	0	0	1	0	0	7386	838	29	3	301	3	HS3ST3B1	17	14205134	Nonsense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	6752518	14205134	66990076	68	19276										
MYO15A	51168	genome.wustl.edu	37	chr17	18075537	18075537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ccagagctgcagcaacattgCtgtgccagccccttgcatcc	9	16	0	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:18075537C>T	ENST00000205890.5	+	64	10621	c.10283C>T	c.(10282-10284)gCt>gTt	p.A3428V	MYO15A_ENST00000418233.3_Missense_Mutation_p.A692V|MYO15A_ENST00000451725.2_Silent_p.L222L|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3428	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCAACATTGCTGTGCCAGCC	0.582																																																	0													100	104	103					17																	18075537		2115	4219	6334	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10283C>T	17.37:g.18075537C>T	ENSP00000205890:p.Ala3428Val		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A3428V	ENST00000205890.5	37	c.10283	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624206	0.28889	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000445289	T	0.77229	-1.08	5.81	3.81	0.43845	FERM domain (1);	.	.	.	.	T	0.68522	0.3010	L	0.45137	1.4	0.80722	D	1	B;B;B;B	0.31435	0.062;0.323;0.019;0.003	B;B;B;B	0.30316	0.058;0.114;0.019;0.003	T	0.62618	-0.6816	9	0.31617	T	0.26	.	11.4243	0.50001	0.0:0.8515:0.0:0.1485	.	417;123;692;3428	B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.;.;.;MYO15_HUMAN	V	3428;417;123	ENSP00000205890:A3428V	ENSP00000205890:A3428V	A	+	2	0	MYO15A	18016262	0.311000	0.24536	0.002000	0.10522	0.341000	0.28922	4.814000	0.62627	0.775000	0.33450	0.655000	0.94253	GCT	MYO15A	-	pfscan_FERM_domain		0.582	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18075537	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.095	T	T	18075537	C	T	18075537	3	4	121	1	0	0	0	0	1	0	0	0	10086	797	28	4	10529	4	MYO15A	17	18075537	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	3870403	18075537	63119673	69	19277										
PROCA1	6830	genome.wustl.edu	37	chr17	27030957	27030957	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tctttctctttttcctttttCttctttaccttcttgatcac	1	12	6	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:27030957C>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000439862.3_Missense_Mutation_p.K212N|PROCA1_ENST00000301039.2_Missense_Mutation_p.K210N|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					tttcctttttcttctttacct	0.502																																																	0													56	56	56					17																	27030957		2201	4300	6501	SO:0001628	intergenic_variant	147011			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030957C>G			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2	p.K212N	ENST00000314616.6	37	c.636	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741831	0.69304	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04970	3.52;3.52	5.56	1.31	0.21738	.	0.183459	0.36234	N	0.002720	T	0.10208	0.0250	L	0.29908	0.895	0.38924	D	0.9578	D;D;D	0.69078	0.997;0.995;0.995	P;D;D	0.63877	0.831;0.919;0.919	T	0.18871	-1.0323	10	0.33940	T	0.23	-17.6175	8.0016	0.30299	0.0:0.6709:0.0:0.3291	.	238;212;210	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	N	210;212;238	ENSP00000301039:K210N;ENSP00000411400:K212N	ENSP00000301039:K210N	K	-	3	2	PROCA1	24055084	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	0.993000	0.29680	0.034000	0.15491	0.650000	0.86243	AAG	PROCA1	-	NULL		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	C	NM_003170		27030957	-1	no_errors	ENST00000439862	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27030957	C	G	27030957	1	3	121	0	1	0	0	0	0	0	0	0	12573	912	32	1		1	PROCA1	17	27030957	IGR	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	8955420	27030957	54164253	70	19278										
GPR179	440435	genome.wustl.edu	37	chr17	36489893	36489893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	gaagaggaggagggtccagtCcgggtgcagagagggaacca	19	7	0	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:36489893C>T	ENST00000342292.4	-	9	1833	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	605					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGGTCCAGTCCGGGTGCAGA	0.607											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	95	88					17																	36489893		2147	4237	6384	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1813G>A	17.37:g.36489893C>T	ENSP00000345060:p.Asp605Asn	863		Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.D605N	ENST00000342292.4	37	c.1813	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.058699	0.93846	.	.	ENSG00000188888	ENST00000342292	T	0.58797	0.31	5.02	4.05	0.47172	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.75568	0.3867	M	0.85945	2.785	0.44155	D	0.996958	D	0.76494	0.999	D	0.67103	0.949	T	0.79045	-0.1964	10	0.52906	T	0.07	-17.0885	12.7478	0.57291	0.0:0.9188:0.0:0.0812	.	605	Q6PRD1	GP179_HUMAN	N	605	ENSP00000345060:D605N	ENSP00000345060:D605N	D	-	1	0	GPR179	33743419	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	7.015000	0.76387	1.484000	0.48361	0.563000	0.77884	GAC	GPR179	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36489893	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.997	T	T	36489893	C	T	36489893	3	4	121	1	0	0	0	0	1	0	0	0	6693	855	30	1	5302	1	GPR179	17	36489893	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	9458936	36489893	44705317	71	19279										
KRT222	125113	genome.wustl.edu	37	chr17	38818185	38818185	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	caccacagcatggagagattCaatttccacttgcaggtggt	10	10	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:38818185C>T	ENST00000476049.1	-	2	249	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	KRT222_ENST00000394052.3_Missense_Mutation_p.E70K			Q8N1A0	KT222_HUMAN	keratin 222	70						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGGAGAGATTCAATTTCCACT	0.453																																																	0													246	238	241					17																	38818185		2203	4300	6503	SO:0001583	missense	125113			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"-"	28695	protein-coding gene	gene with protein product			"keratin 222 pseudogene"	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.208G>A	17.37:g.38818185C>T	ENSP00000463483:p.Glu70Lys		Q7Z368	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E70K	ENST00000476049.1	37	c.208	CCDS11371.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864225	0.91511	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.89415	-2.51	5.9	5.9	0.94986	Filament (1);	0.139010	0.47455	U	0.000230	D	0.91962	0.7454	M	0.91818	3.245	0.80722	D	1	P;B	0.35923	0.528;0.336	B;B	0.34093	0.108;0.175	D	0.92369	0.5904	10	0.87932	D	0	-9.0264	20.2626	0.98452	0.0:1.0:0.0:0.0	.	30;70	Q8N1A0-2;Q8N1A0	.;KT222_HUMAN	K	30;70	ENSP00000377616:E70K	ENSP00000377613:E30K	E	-	1	0	KRT222	36071711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.472000	0.66768	2.802000	0.96397	0.650000	0.86243	GAA	KRT222	-	pfam_F,prints_Keratin_I		0.453	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KRT222	HGNC	protein_coding	OTTHUMT00000447539.1	C	NM_152349		38818185	-1	no_errors	ENST00000394052	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38818185	C	T	38818185	3	4	121	1	0	0	0	0	1	0	0	0	8479	835	29	1	699	1	KRT222	17	38818185	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	2328292	38818185	42377025	72	19280										
KRTAP4-1	85285	genome.wustl.edu	37	chr17	39341030	39341030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tggtctggcagcagctggggCggcagcaggtctcttggcag	18	10	2	0	rs369645187		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:39341030C>T	ENST00000398472.1	-	1	564	c.77G>A	c.(76-78)cGc>cAc	p.R26H				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	26	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.597																																																	0								C	HIS/ARG	1,4383		0,1,2191	27	31	29		77	-2.3	0	17		29	0,8584		0,0,4292	no	missense	KRTAP4-1	NM_033060.2	29	0,1,6483	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	26/128	39341030	1,12967	2192	4292	6484	SO:0001583	missense	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"Keratin associated proteins"	18907	protein-coding gene	gene with protein product			"keratin associated protein 4-10"	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.77G>A	17.37:g.39341030C>T	ENSP00000381489:p.Arg26His		A8MWS7|Q3SYF2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R26H	ENST00000398472.1	37	c.77		17	.	.	.	.	.	.	.	.	.	.	C	2.098	-0.406779	0.04832	2.28E-4	0.0	ENSG00000198443	ENST00000398472;ENST00000334190	T	0.01430	4.9	3.59	-2.27	0.06846	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.42932	-0.9422	8	0.56958	D	0.05	.	9.2425	0.37504	0.0:0.1897:0.0:0.8103	.	26	Q9BYQ7	KRA41_HUMAN	H	26	ENSP00000381489:R26H	ENSP00000335483:R26H	R	-	2	0	KRTAP4-1	36594556	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-1.423000	0.02450	-0.266000	0.09339	-0.345000	0.07892	CGC	KRTAP4-1	-	pfam_Keratin-assoc		0.597	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	KRTAP4-1	HGNC	protein_coding	OTTHUMT00000255108.1	C	NM_033060		39341030	-1	no_errors	ENST00000398472	ensembl	human	known	70_37	missense	SNP	0.021	T	T	39341030	C	T	39341030	3	4	121	1	0	0	0	0	1	0	0	0	8568	768	27	2	314	2	KRTAP4-1	17	39341030	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	522845	39341030	41854180	73	19281										
KIF2B	84643	genome.wustl.edu	37	chr17	51900705	51900705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cttggctctggcgccctcttCggccatcagggaccagcgta	12	15	3	0	rs371085430		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:51900705C>T	ENST00000268919.4	+	1	467	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGCCCTCTTCGGCCATCAGG	0.612													C|||	1	0.000199681	0	0	5008	,	,		15275	0.001		0	False		,,,				2504	0																0								C	LEU/SER	0,4406		0,0,2203	89	98	95		311	2.9	0	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF2B	NM_032559.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	104/674	51900705	1,13005	2203	4300	6503	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.311C>T	17.37:g.51900705C>T	ENSP00000268919:p.Ser104Leu		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S104L	ENST00000268919.4	37	c.311	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	2.386	-0.340855	0.05243	0.0	1.16E-4	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74106	-0.81	4.96	2.93	0.34026	.	1.236910	0.06126	U	0.669728	T	0.64605	0.2613	L	0.49778	1.585	0.09310	N	1	P	0.37731	0.607	B	0.29785	0.107	T	0.49844	-0.8896	10	0.23891	T	0.37	.	7.475	0.27371	0.1646:0.7497:0.0:0.0857	.	104	Q8N4N8	KIF2B_HUMAN	L	104;27	ENSP00000268919:S104L	ENSP00000268919:S104L	S	+	2	0	KIF2B	49255704	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.901000	0.39838	0.763000	0.33175	0.655000	0.94253	TCG	KIF2B	-	NULL		0.612	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	C	NM_032559		51900705	1	no_errors	ENST00000268919	ensembl	human	known	70_37	missense	SNP	0.001	T	T	51900705	C	T	51900705	3	4	121	1	0	0	0	0	1	0	0	0	8318	893	31	1	313	1	KIF2B	17	51900705	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	12559675	51900705	29294505	74	19282										
TBC1D16	125058	genome.wustl.edu	37	chr17	77921490	77921490	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggggtgagctgacgaagatcGtgttctgcatcaaacccaca	12	10	2	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:77921490G>C	ENST00000310924.2	-	9	1797	c.1682C>G	c.(1681-1683)aCg>aGg	p.T561R	TBC1D16_ENST00000572862.1_Missense_Mutation_p.T199R|TBC1D16_ENST00000576768.1_Missense_Mutation_p.T186R|TBC1D16_ENST00000340848.7_Missense_Mutation_p.T199R|TBC1D16_ENST00000570373.1_Missense_Mutation_p.T200R	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	561	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GACGAAGATCGTGTTCTGCAT	0.597																																					Ovarian(14;397 562 4850 31922 49378)												0													165	124	138					17																	77921490		2203	4300	6503	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1682C>G	17.37:g.77921490G>C	ENSP00000309794:p.Thr561Arg		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T561R	ENST00000310924.2	37	c.1682	CCDS11766.1	17	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912557	0.92178	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04360	3.64;3.64	5.57	5.57	0.84162	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	L	0.54863	1.705	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.81914	0.991;0.995;0.995;0.988	T	0.00051	-1.2195	10	0.66056	D	0.02	-42.494	19.5469	0.95302	0.0:0.0:1.0:0.0	.	221;561;561;199	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	R	199;561	ENSP00000341517:T199R;ENSP00000309794:T561R	ENSP00000309794:T561R	T	-	2	0	TBC1D16	75536085	1.000000	0.71417	0.919000	0.36401	0.882000	0.50991	9.416000	0.97383	2.619000	0.88677	0.561000	0.74099	ACG	TBC1D16	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.597	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	G	NM_019020		77921490	-1	no_errors	ENST00000310924	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77921490	G	C	77921490	3	2	121	1	0	0	0	0	1	0	0	0	15635	1145	40	2	637	2	TBC1D16	17	77921490	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	26020785	77921490	3273720	75	19283										
MC2R	4158	genome.wustl.edu	37	chr18	13884993	13884993	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aacagcgacgtgaaggtgatCactgtgggcacatgatggga	15	7	1	3			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr18:13884993C>A	ENST00000327606.3	-	2	705	c.525G>T	c.(523-525)gtG>gtT	p.V175V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	175					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAAGGTGATCACTGTGGGCA	0.567																																					Colon(141;1584 1782 35999 48227 48692)												0													162	134	144					18																	13884993		2203	4300	6503	SO:0001819	synonymous_variant	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.525G>T	18.37:g.13884993C>A			A8K016|Q3MI45|Q504X6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.V175	ENST00000327606.3	37	c.525	CCDS11869.1	18																																																																																			MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	C			13884993	-1	no_errors	ENST00000327606	ensembl	human	known	70_37	silent	SNP	0.988	A	A	13884993	C	A	13884993	2	1	121	1	0	0	0	0	0	0	0	1	9387	813	29	3		3	MC2R	18	13884993	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		13884993	64192255	76	19284										
ATP5D	513	genome.wustl.edu	37	chr19	1242530	1242530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ccttcggcatcctggcggccCacgtgcccacgctgcaggtc	12	18	0	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:1242530C>T	ENST00000215375.2	+	2	318	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ATP5D_ENST00000395633.1_Missense_Mutation_p.H73Y|ATP5D_ENST00000591660.1_Missense_Mutation_p.H73Y	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	73					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGGCGGCCCACGTGCCCAC	0.657																																																	0													18	14	16					19																	1242530		2153	4218	6371	SO:0001583	missense	513			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.217C>T	19.37:g.1242530C>T	ENSP00000215375:p.His73Tyr		D6W5Y3|Q6FG90	Missense_Mutation	SNP	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu	p.H73Y	ENST00000215375.2	37	c.217	CCDS12058.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.409910	0.96072	.	.	ENSG00000099624	ENST00000215375;ENST00000395633	.	.	.	5.12	5.12	0.69794	ATPase, F1 complex, delta/epsilon subunit, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	H	0.99391	4.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94977	0.8122	9	0.87932	D	0	-12.6787	16.0299	0.80570	0.0:1.0:0.0:0.0	.	73	P30049	ATPD_HUMAN	Y	73	.	ENSP00000215375:H73Y	H	+	1	0	ATP5D	1193530	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	7.389000	0.79806	2.371000	0.80710	0.462000	0.41574	CAC	ATP5D	-	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu		0.657	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5D	HGNC	protein_coding	OTTHUMT00000449958.1	C	NM_001687		1242530	1	no_errors	ENST00000215375	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1242530	C	T	1242530	3	4	121	1	0	0	0	0	1	0	0	0	1151	594	21	4	223	4	ATP5D	19	1242530	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		1242530	57886453	77	19285										
AKAP8L	26993	genome.wustl.edu	37	chr19	15510182	15510182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcttgcctgcctgcaacttgCgcttggtctggccattttca	9	13	3	0	rs570266491		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:15510182C>T	ENST00000397410.5	-	9	1218	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R302H|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	363						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGCAACTTGCGCTTGGTCTG	0.597													C|||	1	0.000199681	0	0	5008	,	,		20542	0		0	False		,,,				2504	0.001																0													169	167	168					19																	15510182		2105	4223	6328	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1088G>A	19.37:g.15510182C>T	ENSP00000380557:p.Arg363His		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.R363H	ENST00000397410.5	37	c.1088	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730714	0.48939	.	.	ENSG00000011243	ENST00000397410	T	0.52057	0.68	5.43	3.32	0.38043	.	0.436418	0.23750	N	0.044926	T	0.31702	0.0805	N	0.22421	0.69	0.24165	N	0.995649	B;B	0.15473	0.013;0.013	B;B	0.10450	0.005;0.003	T	0.22382	-1.0218	10	0.52906	T	0.07	-9.587	8.562	0.33516	0.0:0.7605:0.0:0.2395	.	302;363	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	H	363	ENSP00000380557:R363H	ENSP00000380557:R363H	R	-	2	0	AKAP8L	15371182	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.451000	0.35145	0.684000	0.31448	0.561000	0.74099	CGC	AKAP8L	-	NULL		0.597	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	C	NM_014371		15510182	-1	no_errors	ENST00000397410	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15510182	C	T	15510182	3	4	121	1	0	0	0	0	1	0	0	0	458	768	27	2	876	2	AKAP8L	19	15510182	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	14267652	15510182	43618801	78	19286										
ZNF93	81931	genome.wustl.edu	37	chr19	20026190	20026190	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tataggaatgtgatgttagaGaactacagtaacctggtctt	10	5	1	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:20026190G>A	ENST00000343769.5	+	2	133	c.105G>A	c.(103-105)gaG>gaA	p.E35E	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Silent_p.E35E|ZNF93_ENST00000591366.1_Silent_p.E35E	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGATGTTAGAGAACTACAGTA	0.373																																																	0													130	133	132					19																	20026190		2203	4300	6503	SO:0001819	synonymous_variant	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.105G>A	19.37:g.20026190G>A			A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E35	ENST00000343769.5	37	c.105	CCDS32973.1	19																																																																																			ZNF93	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	G	NM_031218		20026190	1	no_errors	ENST00000343769	ensembl	human	known	70_37	silent	SNP	0.924	A	A	20026190	G	A	20026190	2	1	121	1	0	0	0	0	0	0	0	1	18232	933	33	1		1	ZNF93	19	20026190	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	4516008	20026190	39102793	79	19287										
FCGBP	8857	genome.wustl.edu	37	chr19	40376662	40376662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tcattcctccagggctccacGtggcctccagccgcctggca	10	18	1	0	rs79630345	byFrequency	TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:40376662G>C	ENST00000221347.6	-	24	11767	c.11760C>G	c.(11758-11760)caC>caG	p.H3920Q	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3920			H -> Q (in dbSNP:rs2542318).			extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGGCTCCACGTGGCCTCCAG	0.592													g|||	625	0.1248	0.0983	0.0447	5008	,	,		27897	0.3026		0.0577	False		,,,				2504	0.1033																0													96	122	113					19																	40376662		2113	4189	6302	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11760C>G	19.37:g.40376662G>C	ENSP00000221347:p.His3920Gln		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.H3920Q	ENST00000221347.6	37	c.11760	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	7.411	0.634815	0.14322	.	.	ENSG00000090920	ENST00000221347	T	0.75704	-0.96	3.67	-6.46	0.01908	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.42653	0.1212	N	0.11255	0.115	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33343	-0.9872	9	0.12766	T	0.61	.	1.7186	0.02907	0.3358:0.1251:0.4119:0.1272	.	3920	Q9Y6R7	FCGBP_HUMAN	Q	3920	ENSP00000221347:H3920Q	ENSP00000221347:H3920Q	H	-	3	2	FCGBP	45068502	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-2.166000	0.01273	-1.510000	0.01796	0.313000	0.20887	CAC	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40376662	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.001	C	C	40376662	G	C	40376662	3	2	121	1	0	0	0	0	1	0	0	0	5796	1136	40	2	4509	2	FCGBP	19	40376662	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	20350472	40376662	18752321	80	19288										
SYT3	84258	genome.wustl.edu	37	chr19	51128796	51128796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttcagacgccgcccctcgctGatcagggaggccttcacgta	11	15	3	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:51128796G>A	ENST00000338916.4	-	6	2061	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	SYT3_ENST00000600079.1_Silent_p.I476I|SYT3_ENST00000544769.1_Silent_p.I476I|SYT3_ENST00000593901.1_Silent_p.I476I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	476	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCTCGCTGATCAGGGAGG	0.597																																																	0													47	43	45					19																	51128796		2203	4300	6503	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1428C>T	19.37:g.51128796G>A			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.I476	ENST00000338916.4	37	c.1428	CCDS12798.1	19																																																																																			SYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.597	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	G	NM_032298		51128796	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	silent	SNP	0.999	A	A	51128796	G	A	51128796	2	1	121	1	0	0	0	0	0	0	0	1	15505	1280	45	1		1	SYT3	19	51128796	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	10752134	51128796	8000187	81	19289										
ACPT	93650	genome.wustl.edu	37	chr19	51298351	51298351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	agctgtgctggtggcactcaGcttggggctgggcctgctgg	18	10	1	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:51298351G>C	ENST00000270593.1	+	11	1217	c.1217G>C	c.(1216-1218)aGc>aCc	p.S406T	ACPT_ENST00000270594.3_Missense_Mutation_p.S313T|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	406						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTGGCACTCAGCTTGGGGCTG	0.692																																																	0													16	16	16					19																	51298351		2182	4273	6455	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1217G>C	19.37:g.51298351G>C	ENSP00000270593:p.Ser406Thr		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S313T	ENST00000270593.1	37	c.938	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	12.11	1.839972	0.32513	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.12255	2.9;2.7	4.14	4.14	0.48551	.	1.564480	0.04659	N	0.408559	T	0.11324	0.0276	L	0.36672	1.1	0.26560	N	0.973743	B	0.31318	0.319	B	0.24269	0.052	T	0.24693	-1.0153	10	0.02654	T	1	-29.2977	12.3028	0.54884	0.0:0.0:1.0:0.0	.	406	Q9BZG2	PPAT_HUMAN	T	406;313	ENSP00000270593:S406T;ENSP00000270594:S313T	ENSP00000270593:S406T	S	+	2	0	ACPT	55990163	0.182000	0.23173	0.322000	0.25334	0.077000	0.17291	2.184000	0.42575	2.037000	0.60232	0.561000	0.74099	AGC	ACPT	-	NULL		0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51298351	1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.914	C	C	51298351	G	C	51298351	3	2	121	1	0	0	0	0	1	0	0	0	168	971	34	4	1259	4	ACPT	19	51298351	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	169555	51298351	7830632	82	19290										
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56702270	56702270	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttctcttccctgttttccttCagatccttctccaaggtctg	5	14	4	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:56702270C>T	ENST00000586855.2	-	4	988	c.675G>A	c.(673-675)ctG>ctA	p.L225L	ZSCAN5B_ENST00000358992.3_Silent_p.L225L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	225					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTTTTCCTTCAGATCCTTCT	0.502																																																	0													189	171	177					19																	56702270		2203	4300	6503	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.675G>A	19.37:g.56702270C>T				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L225	ENST00000586855.2	37	c.675	CCDS46203.1	19																																																																																			ZSCAN5B	-	NULL		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56702270	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	silent	SNP	0.062	T	T	56702270	C	T	56702270	2	4	121	1	0	0	0	0	0	0	0	1	18269	813	29	1		1	ZSCAN5B	19	56702270	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	5403919	56702270	2426713	83	19291										
KIF3B	9371	genome.wustl.edu	37	chr20	30904625	30904625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aagaagaacacatcaaggagCgccaagagctagagcagact	11	9	1	5			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr20:30904625C>T	ENST00000375712.3	+	5	1863	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	KIF3B_ENST00000418717.2_Missense_Mutation_p.R192C	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	566					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R566C(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCAAGGAGCGCCAAGAGCT	0.542																																																	1	Substitution - Missense(1)	endometrium(1)											90	84	86					20																	30904625		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1696C>T	20.37:g.30904625C>T	ENSP00000364864:p.Arg566Cys		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R566C	ENST00000375712.3	37	c.1696	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746887	0.69418	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.77620	-1.11;0.07	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.89146	0.6632	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.966;0.991	D	0.90759	0.4663	10	0.72032	D	0.01	.	12.9493	0.58389	0.1619:0.8381:0.0:0.0	.	192;566	B4DSR5;O15066	.;KIF3B_HUMAN	C	566;192	ENSP00000364864:R566C;ENSP00000406287:R192C	ENSP00000364864:R566C	R	+	1	0	KIF3B	30368286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.974000	0.40559	2.527000	0.85204	0.555000	0.69702	CGC	KIF3B	-	NULL		0.542	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	C	NM_004798		30904625	1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30904625	C	T	30904625	3	4	121	1	0	0	0	0	1	0	0	0	8321	768	27	2	1710	2	KIF3B	20	30904625	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		30904625	32120895	84	19292										
DSCAM	1826	genome.wustl.edu	37	chr21	41385099	41385099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cgctgaggtaatgtggccacGgcccccggctgccacgactg	14	15	0	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr21:41385099G>A	ENST00000400454.1	-	33	6378	c.5901C>T	c.(5899-5901)gcC>gcT	p.A1967A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1967				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1967A(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTGGCCACGGCCCCCGGCT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)												3	Substitution - coding silent(3)	lung(1)|kidney(1)|endometrium(1)											27	29	28					21																	41385099		1931	4140	6071	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5901C>T	21.37:g.41385099G>A			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1967	ENST00000400454.1	37	c.5901	CCDS42929.1	21																																																																																			DSCAM	-	NULL		0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41385099	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	silent	SNP	0.998	A	A	41385099	G	A	41385099	2	1	121	1	0	0	0	0	0	0	0	1	4778	1103	39	2		2	DSCAM	21	41385099	Silent	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		41385099	6744796	85	19293										
PIWIL3	440822	genome.wustl.edu	37	chr22	25155919	25155919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ctgggacttcctcctgcagcGgccggggtgtcgactgcaac	14	14	0	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr22:25155919G>A	ENST00000332271.5	-	3	556	c.140C>T	c.(139-141)cCg>cTg	p.P47L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	47					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCCTGCAGCGGCCGGGGTGT	0.537																																																	0													194	201	198					22																	25155919		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.140C>T	22.37:g.25155919G>A	ENSP00000330031:p.Pro47Leu			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.P47L	ENST00000332271.5	37	c.140	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989245	0.18966	.	.	ENSG00000184571	ENST00000332271	T	0.05139	3.49	2.52	-0.955	0.10356	.	1.493400	0.04503	U	0.381652	T	0.10078	0.0247	L	0.54323	1.7	0.09310	N	0.999999	B;D	0.63046	0.051;0.992	B;P	0.50570	0.009;0.644	T	0.23511	-1.0186	10	0.34782	T	0.22	-0.0183	2.4837	0.04594	0.2845:0.0:0.4829:0.2326	.	47;47	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	L	47	ENSP00000330031:P47L	ENSP00000330031:P47L	P	-	2	0	PIWIL3	23485919	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.301000	0.08232	-0.129000	0.11620	0.655000	0.94253	CCG	PIWIL3	-	NULL		0.537	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	G	NM_001008496		25155919	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25155919	G	A	25155919	3	1	121	1	0	0	0	0	1	0	0	0	11983	1116	39	2	2584	2	PIWIL3	22	25155919	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09		25155919	26148647	86	19294										
CRYBA4	1413	genome.wustl.edu	37	chr22	27019213	27019213	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cacagatggtggtgtgggatGaggacggcttccagggccgg	19	8	0	2	rs148346157		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr22:27019213G>A	ENST00000354760.3	+	3	90	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	19	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGTGTGGGATGAGGACGGCTT	0.607																																																	0								G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	90	101	97		55	0.9	0.6	22	dbSNP_134	97	0,8600		0,0,4300	no	missense	CRYBA4	NM_001886.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	19/197	27019213	1,13005	2203	4300	6503	SO:0001583	missense	1413				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.55G>A	22.37:g.27019213G>A	ENSP00000346805:p.Glu19Lys		Q4VB22|Q6ICE4	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E19K	ENST00000354760.3	37	c.55	CCDS13841.1	22	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873576	0.72180	2.27E-4	0.0	ENSG00000196431	ENST00000354760	T	0.75704	-0.96	4.44	0.866	0.19079	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.122258	0.52532	D	0.000065	T	0.78329	0.4266	L	0.28458	0.855	0.52099	D	0.999943	B	0.25904	0.137	P	0.53518	0.728	T	0.78489	-0.2184	10	0.66056	D	0.02	.	13.7243	0.62748	0.0:0.4589:0.5411:0.0	.	19	P53673	CRBA4_HUMAN	K	19	ENSP00000346805:E19K	ENSP00000346805:E19K	E	+	1	0	CRYBA4	25349213	0.922000	0.31269	0.554000	0.28268	0.980000	0.70556	1.242000	0.32755	0.486000	0.27676	-0.156000	0.13503	GAG	CRYBA4	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.607	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	HGNC	protein_coding	OTTHUMT00000320793.1	G	NM_001886		27019213	1	no_errors	ENST00000354760	ensembl	human	known	70_37	missense	SNP	0.406	A	A	27019213	G	A	27019213	3	1	121	1	0	0	0	0	1	0	0	0	3914	1291	45	1	61	1	CRYBA4	22	27019213	Missense_Mutation	SNP	G	TCGA-EX-A1H6-01B-11D-A22X-09	1863294	27019213	24285353	87	19295										
PJA1	64219	genome.wustl.edu	37	chrX	68381222	68381222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tgaagccagatggacacacaCggcttgtggaaatagtggtg	14	7	0	2			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:68381222C>T	ENST00000361478.1	-	2	2237	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	PJA1_ENST00000374571.4_Silent_p.P565P|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Silent_p.P432P|PJA1_ENST00000374583.1_Silent_p.P620P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	620					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGGACACACACGGCTTGTGGA	0.582																																																	0													63	49	54					X																	68381222		2203	4300	6503	SO:0001819	synonymous_variant	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1860G>A	X.37:g.68381222C>T			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P620	ENST00000361478.1	37	c.1860	CCDS14393.1	X																																																																																			PJA1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.582	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	C	NM_145119		68381222	-1	no_errors	ENST00000361478	ensembl	human	known	70_37	silent	SNP	0.144	T	T	68381222	C	T	68381222	2	4	121	1	0	0	0	0	0	0	0	1	11985	523	19	2		2	PJA1	23	68381222	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09		68381222	86889338	88	19296										
TAF1	6872	genome.wustl.edu	37	chrX	70603813	70603813	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ttttctttgttctggacagaTgagagaacaagagaggcaag	12	5	2	4			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:70603813T>G	ENST00000373790.4	+	13	1997	c.1946T>G	c.(1945-1947)aTg>aGg	p.M649R	TAF1_ENST00000449580.1_Splice_Site_p.M649R|TAF1_ENST00000276072.3_Splice_Site_p.M670R|TAF1_ENST00000423759.1_Splice_Site_p.M670R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	649	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.M649T(1)|p.M670T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTGGACAGATGAGAGAACAA	0.428																																																	2	Substitution - Missense(2)	lung(2)											192	160	171					X																	70603813		2203	4300	6503	SO:0001630	splice_region_variant	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1945-1T>G	X.37:g.70603813T>G			A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.M649R	ENST00000373790.4	37	c.1946	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	17.09	3.301227	0.60195	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	N	0.16656	0.425	0.80722	D	1	P;P	0.39624	0.681;0.631	P;B	0.47915	0.561;0.359	T	0.20605	-1.0270	10	0.26408	T	0.33	.	15.2112	0.73225	0.0:0.0:0.0:1.0	.	649;670	P21675;P21675-2	TAF1_HUMAN;.	R	649;649;670;670	ENSP00000362895:M649R;ENSP00000389000:M649R;ENSP00000406549:M670R;ENSP00000276072:M670R	ENSP00000276072:M670R	M	+	2	0	TAF1	70520538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.532000	0.81985	1.976000	0.57569	0.486000	0.48141	ATG	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	T	NM_004606	Missense_Mutation	70603813	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70603813	T	G	70603813	5	3	121	1	0	0	0	0	0	0	1	0	15543	1478	51	5	2059	5	TAF1	23	70603813	Splice_Site	SNP	T	TCGA-EX-A1H6-01B-11D-A22X-09	2222591	70603813	84666747	89	19297										
DIAPH2	1730	genome.wustl.edu	37	chrX	96171543	96171543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	tgaaatagtaaaaatactttCtgctatttgcattgttggag	8	4	1	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:96171543C>T	ENST00000324765.8	+	8	1186	c.839C>T	c.(838-840)tCt>tTt	p.S280F	DIAPH2_ENST00000373061.3_Missense_Mutation_p.S280F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.S276F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAATACTTTCTGCTATTTGC	0.318																																																	0													64	57	60					X																	96171543		2203	4293	6496	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.839C>T	X.37:g.96171543C>T	ENSP00000321348:p.Ser280Phe		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.S280F	ENST00000324765.8	37	c.839	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665476	0.67700	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	D	0.95601	0.8570	M	0.80746	2.51	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96047	0.9028	10	0.87932	D	0	.	18.453	0.90711	0.0:1.0:0.0:0.0	.	280;280;287	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	F	280;276;280;280;280;287	ENSP00000362152:S280F;ENSP00000362145:S276F;ENSP00000348082:S280F;ENSP00000362140:S280F;ENSP00000321348:S280F	ENSP00000321348:S280F	S	+	2	0	DIAPH2	96058199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.300000	0.77407	0.544000	0.68410	TCT	DIAPH2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.318	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96171543	1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96171543	C	T	96171543	3	4	121	1	0	0	0	0	1	0	0	0	4529	913	32	1	869	1	DIAPH2	23	96171543	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	25567730	96171543	59099017	90	19298										
CSTF2	1478	genome.wustl.edu	37	chrX	100081733	100081733	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	acaggacctggccctggttcCttagctcctggaggtaagtt	12	11	0	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:100081733C>A	ENST00000372972.2	+	7	829	c.813C>A	c.(811-813)tcC>tcA	p.S271S	CSTF2_ENST00000415585.2_Silent_p.S271S	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	271	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GCCCTGGTTCCTTAGCTCCTG	0.493																																																	0													95	69	78					X																	100081733		2203	4300	6503	SO:0001819	synonymous_variant	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.813C>A	X.37:g.100081733C>A			Q5H951|Q6LA74|Q8N502	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S271	ENST00000372972.2	37	c.813	CCDS14473.1	X																																																																																			CSTF2	-	NULL		0.493	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	C	NM_001325		100081733	1	no_errors	ENST00000415585	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100081733	C	A	100081733	2	1	121	1	0	0	0	0	0	0	0	1	3989	668	24	4		4	CSTF2	23	100081733	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	3910190	100081733	55188827	91	19299										
GPRASP2	114928	genome.wustl.edu	37	chrX	101970963	101970963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	ggaggaagtcattattgggtCctggttctgggcagaaaaag	15	5	2	1			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:101970963C>T	ENST00000535209.1	+	4	1997	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S389F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S389F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	389						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATTATTGGGTCCTGGTTCTGG	0.517																																																	0													63	63	63					X																	101970963		2203	4300	6503	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1166C>T	X.37:g.101970963C>T	ENSP00000437394:p.Ser389Phe		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S389F	ENST00000535209.1	37	c.1166	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716063	0.48622	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.13089	2.62;2.62;2.62	4.44	4.44	0.53790	.	0.144862	0.32736	N	0.005715	T	0.30039	0.0752	M	0.68593	2.085	0.36808	D	0.885743	D	0.89917	1.0	D	0.71184	0.972	T	0.16897	-1.0387	10	0.87932	D	0	.	7.365	0.26768	0.0:0.8845:0.0:0.1155	.	389	Q96D09	GASP2_HUMAN	F	389	ENSP00000437872:S389F;ENSP00000437394:S389F;ENSP00000339057:S389F	ENSP00000339057:S389F	S	+	2	0	GPRASP2	101857619	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.166000	0.50785	2.458000	0.83093	0.600000	0.82982	TCC	GPRASP2	-	NULL		0.517	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	C	NM_138437		101970963	1	no_errors	ENST00000332262	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101970963	C	T	101970963	3	4	121	1	0	0	0	0	1	0	0	0	6743	855	30	1	1168	1	GPRASP2	23	101970963	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	1889230	101970963	53299597	92	19300										
TEX13A	56157	genome.wustl.edu	37	chrX	104464159	104464159	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	aggaggattctctccagcttCtctgtggtctccatggaggc	12	11	3	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:104464159C>T	ENST00000413579.1	-	5	828	c.717G>A	c.(715-717)gaG>gaA	p.E239E	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R240K|TEX13A_ENST00000372578.3_Missense_Mutation_p.R240K|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	239							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCTCCAGCTTCTCTGTGGTCT	0.617																																																	0													30	31	30					X																	104464159		1932	4116	6048	SO:0001819	synonymous_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.717G>A	X.37:g.104464159C>T			B1B1G8|Q32NB6	Missense_Mutation	SNP	NULL	p.R240K	ENST00000413579.1	37	c.719		X	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956925	0.18507	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	2.54	-1.59	0.08453	.	.	.	.	.	T	0.33818	0.0876	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37820	-0.9689	5	0.87932	D	0	.	2.6648	0.05041	0.2202:0.3259:0.0:0.4539	.	.	.	.	K	240	.	ENSP00000361656:R240K	R	-	2	0	TEX13A	104350815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.003000	0.13083	-0.611000	0.05709	0.513000	0.50165	AGA	TEX13A	-	NULL		0.617	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		C	NM_031274		104464159	-1	no_errors	ENST00000372575	ensembl	human	known	70_37	missense	SNP	0.000	T	T	104464159	C	T	104464159	2	4	121	1	0	0	0	0	0	0	0	1	15806	913	32	1		1	TEX13A	23	104464159	Silent	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	2493196	104464159	50806401	93	19301										
DNASE1L1	1774	genome.wustl.edu	37	chrX	153631423	153631423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.372340425531915	35	6.30171456552595e-10	3.15377697841727	4.17341915940932	2.83618351220663	0.0059225966445677	0.0287245937261533	24	cactgtggtgtcctccccatCggcaatcacccagtggaagc	10	15	1	0			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:153631423C>T	ENST00000393638.1	-	7	920	c.634G>A	c.(634-636)Gat>Aat	p.D212N	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D212N	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	212					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTCCCCATCGGCAATCACC	0.642																																																	0													58	56	57					X																	153631423		2203	4300	6503	SO:0001583	missense	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.634G>A	X.37:g.153631423C>T	ENSP00000377255:p.Asp212Asn		D3DWW7|Q5HY41	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.D212N	ENST00000393638.1	37	c.634	CCDS14747.1	X	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958374	0.92726	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.11	5.11	0.69529	Endonuclease/exonuclease/phosphatase (2);	0.050660	0.85682	D	0.000000	T	0.65375	0.2685	M	0.77820	2.39	0.46954	D	0.999262	D	0.89917	1.0	D	0.80764	0.994	T	0.70608	-0.4825	10	0.87932	D	0	-10.9846	14.9165	0.70801	0.0:1.0:0.0:0.0	.	212	P49184	DNSL1_HUMAN	N	212	ENSP00000358824:D212N;ENSP00000377255:D212N;ENSP00000014935:D212N;ENSP00000358823:D212N;ENSP00000358822:D212N;ENSP00000309168:D212N	ENSP00000014935:D212N	D	-	1	0	DNASE1L1	153284617	0.999000	0.42202	0.019000	0.16419	0.735000	0.41995	4.794000	0.62482	2.106000	0.64143	0.597000	0.82753	GAT	DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk		0.642	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	C			153631423	-1	no_errors	ENST00000014935	ensembl	human	known	70_37	missense	SNP	0.927	T	T	153631423	C	T	153631423	3	4	121	1	0	0	0	0	1	0	0	0	4671	884	31	1	282	1	DNASE1L1	23	153631423	Missense_Mutation	SNP	C	TCGA-EX-A1H6-01B-11D-A22X-09	49167264	153631423	1639137	94	19302										
PER3	8863	genome.wustl.edu	37	chr1	7895971	7895971	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gaatgatacggcagacacctGagcgcattctcatgacatac	9	11	1	4			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:7895971G>T	ENST00000361923.2	+	19	3512	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	PER3_ENST00000377532.3_Nonsense_Mutation_p.E1122*	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1113					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGACACCTGAGCGCATTCT	0.398																																																	0													67	63	65					1																	7895971		2203	4300	6503	SO:0001587	stop_gained	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3337G>T	1.37:g.7895971G>T	ENSP00000355031:p.Glu1113*		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E1113*	ENST00000361923.2	37	c.3337	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.427927	0.98279	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	.	.	.	3.98	3.04	0.35103	.	0.641883	0.14993	N	0.286599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.1524	0.36971	0.1072:0.0:0.8928:0.0	.	.	.	.	X	1122;1113;306	.	ENSP00000355031:E1113X	E	+	1	0	PER3	7818558	0.999000	0.42202	0.016000	0.15963	0.059000	0.15707	2.695000	0.47043	2.052000	0.61016	0.557000	0.71058	GAG	PER3	-	pfam_Period_circadian-like_C		0.398	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7895971	1	no_errors	ENST00000361923	ensembl	human	known	70_37	nonsense	SNP	0.287	T	T	7895971	G	T	7895971	4	4	122	1	0	0	0	0	0	1	0	0	11755	1291	45	3	3411	3	PER3	1	7895971	Nonsense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		7895971	241354650	1	19303										
UBR4	23352	genome.wustl.edu	37	chr1	19439131	19439131	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	tgggagacaaggatgtgcctCaaggctgggttggtggccag	18	7	1	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:19439131C>T	ENST00000375254.3	-	78	11715	c.11688G>A	c.(11686-11688)ttG>ttA	p.L3896L	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Silent_p.L3872L|UBR4_ENST00000375267.2_Silent_p.L3896L|UBR4_ENST00000375217.2_Silent_p.L3889L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3896					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGATGTGCCTCAAGGCTGGGT	0.597																																																	0													90	96	94					1																	19439131		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11688G>A	1.37:g.19439131C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L3896	ENST00000375254.3	37	c.11688	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold		0.597	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19439131	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19439131	C	T	19439131	2	4	122	1	0	0	0	0	0	0	0	1	16935	825	29	1		1	UBR4	1	19439131	Silent	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	11543160	19439131	229811490	2	19304										
KIF2C	11004	genome.wustl.edu	37	chr1	45216175	45216175	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	cttcgcatcacggctcaggaGaatgacatggaggtggagct	14	9	2	2			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:45216175G>A	ENST00000372224.4	+	5	491	c.378G>A	c.(376-378)gaG>gaA	p.E126E	KIF2C_ENST00000372222.3_Silent_p.E13E|KIF2C_ENST00000372218.4_Silent_p.E126E|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372217.1_Silent_p.E72E	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	126	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGGCTCAGGAGAATGACATGG	0.567																																																	0													87	81	83					1																	45216175		2203	4300	6503	SO:0001819	synonymous_variant	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.378G>A	1.37:g.45216175G>A			B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E126	ENST00000372224.4	37	c.378	CCDS512.1	1																																																																																			KIF2C	-	NULL		0.567	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	G	NM_006845		45216175	1	no_errors	ENST00000372224	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45216175	G	A	45216175	2	1	122	1	0	0	0	0	0	0	0	1	8319	933	33	1		1	KIF2C	1	45216175	Silent	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	25777044	45216175	204034446	3	19305										
ANKRD13C	81573	genome.wustl.edu	37	chr1	70736563	70736563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ttttacaggaaagcctggagGaagcttcatctgaacaaatt	9	7	2	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:70736563G>T	ENST00000370944.4	-	12	1784	c.1471C>A	c.(1471-1473)Cct>Act	p.P491T	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P456T	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	491					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAGCCTGGAGGAAGCTTCATC	0.299																																																	0													58	61	60					1																	70736563		2200	4299	6499	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1471C>A	1.37:g.70736563G>T	ENSP00000359982:p.Pro491Thr		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P491T	ENST00000370944.4	37	c.1471	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005132	0.93287	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.57907	0.37;0.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.83172	-0.0093	10	0.87932	D	0	-14.7525	20.1519	0.98089	0.0:0.0:1.0:0.0	.	456;491	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	T	491;456	ENSP00000359982:P491T;ENSP00000262346:P456T	ENSP00000262346:P456T	P	-	1	0	ANKRD13C	70509151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.861000	0.98227	0.655000	0.94253	CCT	ANKRD13C	-	pfam_ANKRD13		0.299	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	G	NM_030816		70736563	-1	no_errors	ENST00000370944	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70736563	G	T	70736563	3	4	122	1	0	0	0	0	1	0	0	0	643	1174	41	3	162	3	ANKRD13C	1	70736563	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	25520388	70736563	178514058	4	19306										
HK2	3099	genome.wustl.edu	37	chr2	75101407	75101407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	tggcaggcacgggcagcaacGcctgctacatggaagagatg	15	10	0	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:75101407G>T	ENST00000290573.2	+	7	1306	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	HK2_ENST00000409174.1_Missense_Mutation_p.A208S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	236	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGGCAGCAACGCCTGCTACAT	0.607																																																	0													53	51	51					2																	75101407		2203	4300	6503	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.706G>T	2.37:g.75101407G>T	ENSP00000290573:p.Ala236Ser		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.A236S	ENST00000290573.2	37	c.706	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.118701	0.94385	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97328	-4.34;-4.34	4.63	4.63	0.57726	Hexokinase, C-terminal (1);	0.102325	0.64402	D	0.000002	D	0.98308	0.9439	M	0.84219	2.685	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.98965	1.0799	10	0.87932	D	0	-24.5051	15.3755	0.74602	0.0:0.0:1.0:0.0	.	236	P52789	HXK2_HUMAN	S	236;236;208	ENSP00000290573:A236S;ENSP00000387140:A208S	ENSP00000290573:A236S	A	+	1	0	HK2	74954915	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	9.601000	0.98297	2.561000	0.86390	0.655000	0.94253	GCC	HK2	-	pfam_Hexokinase_C		0.607	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	G	NM_000189		75101407	1	no_errors	ENST00000290573	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75101407	G	T	75101407	3	4	122	1	0	0	0	0	1	0	0	0	7211	1087	38	2	732	2	HK2	2	75101407	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		75101407	168097966	5	19307										
ZNF2	7549	genome.wustl.edu	37	chr2	95847189	95847189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	agaagccctacgactgccgcGagtgtgggaaagccttcagc	13	12	1	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:95847189G>A	ENST00000340539.5	+	5	1078	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ZNF2_ENST00000398107.2_Missense_Mutation_p.E164K|ZNF2_ENST00000425369.1_Missense_Mutation_p.E126K|ZNF2_ENST00000295210.6_Missense_Mutation_p.E168K|ZNF2_ENST00000453539.2_Missense_Mutation_p.E219K	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGACTGCCGCGAGTGTGGGAA	0.567																																																	0													56	65	62					2																	95847189		2199	4298	6497	SO:0001583	missense	7549			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.616G>A	2.37:g.95847189G>A	ENSP00000345392:p.Glu206Lys		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E206K	ENST00000340539.5	37	c.616	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169074	0.57584	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000119	T	0.18800	0.0451	L	0.31371	0.925	0.30291	N	0.790339	D;D;D	0.89917	1.0;0.961;0.993	D;P;P	0.71870	0.975;0.571;0.564	T	0.00507	-1.1699	10	0.56958	D	0.05	-32.3835	16.6795	0.85288	0.0:0.0:1.0:0.0	.	168;164;205	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	K	164;206;126;168;219	ENSP00000381178:E164K;ENSP00000345392:E206K;ENSP00000406017:E126K;ENSP00000295210:E168K;ENSP00000411051:E219K	ENSP00000295210:E168K	E	+	1	0	ZNF2	95210916	0.334000	0.24739	0.953000	0.39169	0.232000	0.25224	1.176000	0.31957	2.813000	0.96785	0.655000	0.94253	GAG	ZNF2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.567	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	G	NM_021088		95847189	1	no_errors	ENST00000340539	ensembl	human	known	70_37	missense	SNP	0.733	A	A	95847189	G	A	95847189	3	1	122	1	0	0	0	0	1	0	0	0	17790	1059	37	1	630	1	ZNF2	2	95847189	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	20745782	95847189	147352184	6	19308										
ABCA12	26154	genome.wustl.edu	37	chr2	215835046	215835046	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	tataagataattttccactcGttgcccagtgaggttataaa	7	7	0	2			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:215835046G>A	ENST00000272895.7	-	37	5860	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R1563*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1881					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCCACTCGTTGCCCAGTG	0.313																																					Ovarian(66;664 1488 5121 34295)												0			GRCh37	CM064932	ABCA12	M							94	96	95					2																	215835046		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5641C>T	2.37:g.215835046G>A	ENSP00000272895:p.Arg1881*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1881*	ENST00000272895.7	37	c.5641	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.420403	0.99166	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.23	5.23	0.72850	.	0.842379	0.10778	N	0.635221	.	.	.	.	.	.	0.26289	N	0.978158	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0908	0.36610	0.0:0.1348:0.6107:0.2545	.	.	.	.	X	1881;1563	.	ENSP00000272895:R1881X	R	-	1	2	ABCA12	215543291	0.945000	0.32115	0.446000	0.26920	0.179000	0.23085	1.576000	0.36504	2.605000	0.88082	0.650000	0.86243	CGA	ABCA12	-	NULL		0.313	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215835046	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	0.138	A	A	215835046	G	A	215835046	4	1	122	1	0	0	0	0	0	1	0	0	30	1153	40	2	2214	2	ABCA12	2	215835046	Nonsense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	119987857	215835046	27364327	7	19309										
ARSJ	79642	genome.wustl.edu	37	chr4	114823522	114823522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gcttttcttttgctttttctCagcctgatttttgcttggct	7	9	2	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr4:114823522C>G	ENST00000315366.7	-	2	2574	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	ARSJ_ENST00000541197.1_Missense_Mutation_p.E570Q	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	570					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		tgctttttctcagcctgattt	0.428																																																	0													73	62	66					4																	114823522		1841	4094	5935	SO:0001583	missense	79642				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1708G>C	4.37:g.114823522C>G	ENSP00000320219:p.Glu570Gln		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E570Q	ENST00000315366.7	37	c.1708	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	C	0.824	-0.747564	0.03065	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.97041	-4.22;-4.22	5.41	-0.627	0.11541	.	0.947285	0.08650	U	0.914212	D	0.91395	0.7285	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80453	-0.1376	10	0.15952	T	0.53	.	6.1411	0.20261	0.0:0.4481:0.1223:0.4296	.	570;570	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	Q	570;570;139	ENSP00000320219:E570Q;ENSP00000438836:E570Q	ENSP00000320219:E570Q	E	-	1	0	ARSJ	115042971	0.000000	0.05858	0.000000	0.03702	0.417000	0.31264	0.265000	0.18515	-0.531000	0.06340	-0.137000	0.14449	GAG	ARSJ	-	NULL		0.428	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	C	NM_024590		114823522	-1	no_errors	ENST00000315366	ensembl	human	known	70_37	missense	SNP	0.000	G	G	114823522	C	G	114823522	3	3	122	1	0	0	0	0	1	0	0	0	996	835	29	1	95	1	ARSJ	4	114823522	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09		114823522	76330754	8	19310										
SH3D19	152503	genome.wustl.edu	37	chr4	152054300	152054300	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ccattcctcattcacatactCtttaagaataataatttctc	1	11	4	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr4:152054300C>G	ENST00000409252.2	-	16	2511	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	SH3D19_ENST00000409598.4_Missense_Mutation_p.E579Q|SH3D19_ENST00000424281.1_Missense_Mutation_p.E543Q|SH3D19_ENST00000427414.2_Missense_Mutation_p.E543Q|SH3D19_ENST00000455740.1_Missense_Mutation_p.E579Q|SH3D19_ENST00000304527.4_Missense_Mutation_p.E602Q|SH3D19_ENST00000514152.1_Missense_Mutation_p.E579Q			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	602	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCACATACTCTTTAAGAATA	0.443																																																	0													94	101	99					4																	152054300		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1804G>C	4.37:g.152054300C>G	ENSP00000386848:p.Glu602Gln		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.E602Q	ENST00000409252.2	37	c.1804	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581162	0.86748	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.36	5.36	0.76844	Src homology-3 domain (4);	0.000000	0.56097	D	0.000024	T	0.32315	0.0825	L	0.43152	1.355	0.50171	D	0.999853	P;P;B;P	0.52463	0.721;0.474;0.28;0.953	P;P;B;P	0.58391	0.525;0.494;0.203;0.838	T	0.00787	-1.1566	10	0.45353	T	0.12	-7.8212	19.0859	0.93202	0.0:1.0:0.0:0.0	.	602;579;543;357	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	Q	579;602;579;543;543;602;579	ENSP00000387030:E579Q;ENSP00000302913:E602Q;ENSP00000416708:E579Q;ENSP00000404542:E543Q;ENSP00000415694:E543Q;ENSP00000386848:E602Q;ENSP00000423449:E579Q	ENSP00000302913:E602Q	E	-	1	0	SH3D19	152273750	1.000000	0.71417	0.919000	0.36401	0.962000	0.63368	5.686000	0.68211	2.496000	0.84212	0.561000	0.74099	GAG	SH3D19	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.443	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	C	NM_001009555		152054300	-1	no_errors	ENST00000304527	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152054300	C	G	152054300	3	3	122	1	0	0	0	0	1	0	0	0	14279	922	32	1	588	1	SH3D19	4	152054300	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	37230778	152054300	39099976	9	19311										
CCT5	22948	genome.wustl.edu	37	chr5	10264873	10264873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gaagattgatgacattcgtaAgcctggagaatctgaagaat	11	5	1	6			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr5:10264873A>G	ENST00000280326.4	+	11	2024	c.1604A>G	c.(1603-1605)aAg>aGg	p.K535R	CCT5_ENST00000515390.1_Missense_Mutation_p.K480R|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.K442R|CCT5_ENST00000515676.1_Missense_Mutation_p.K497R|CCT5_ENST00000503026.1_Missense_Mutation_p.K514R	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	535					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GACATTCGTAAGCCTGGAGAA	0.363																																																	0													139	141	140					5																	10264873		2203	4300	6503	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1604A>G	5.37:g.10264873A>G	ENSP00000280326:p.Lys535Arg		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.K535R	ENST00000280326.4	37	c.1604	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917379	0.33815	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.56941	0.43;0.58;2.64;0.58;2.64	5.28	5.28	0.74379	.	0.225078	0.51477	D	0.000094	T	0.36248	0.0960	N	0.21373	0.66	0.28597	N	0.909362	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.17098	0.017;0.011;0.003	T	0.24799	-1.0150	10	0.56958	D	0.05	-33.7422	6.5874	0.22628	0.8273:0.0:0.1727:0.0	.	442;480;535	B4DYD8;E7ENZ3;P48643	.;.;TCPE_HUMAN	R	535;514;480;508;497;442	ENSP00000280326:K535R;ENSP00000423318:K514R;ENSP00000426923:K480R;ENSP00000427297:K497R;ENSP00000423052:K442R	ENSP00000280326:K535R	K	+	2	0	CCT5	10317873	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.327000	0.52045	2.130000	0.65690	0.451000	0.29950	AAG	CCT5	-	superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi		0.363	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	A			10264873	1	no_errors	ENST00000280326	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10264873	A	G	10264873	3	3	122	1	0	0	0	0	1	0	0	0	2961	72	3	5	1646	5	CCT5	5	10264873	Missense_Mutation	SNP	A	TCGA-EX-A3L1-01A-11D-A21Q-09		10264873	170650387	10	19312										
GHR	2690	genome.wustl.edu	37	chr5	42719441	42719441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	acagggcctcatactcaatgCgactgccttgcccttgcctg	9	15	2	0			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr5:42719441C>T	ENST00000230882.4	+	10	2022	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V	GHR_ENST00000357703.3_Missense_Mutation_p.A589V|GHR_ENST00000537449.1_Missense_Mutation_p.A424V	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	611					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATACTCAATGCGACTGCCTTG	0.488																																																	0													102	92	95					5																	42719441		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1832C>T	5.37:g.42719441C>T	ENSP00000230882:p.Ala611Val		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A611V	ENST00000230882.4	37	c.1832	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212784	0.79352	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.40476	1.03;1.03;1.03	6.08	6.08	0.98989	.	0.149132	0.64402	D	0.000008	T	0.73094	0.3543	H	0.94964	3.605	0.47341	D	0.999396	D	0.61697	0.99	P	0.58721	0.844	T	0.79776	-0.1661	10	0.72032	D	0.01	-15.3882	20.6721	0.99693	0.0:1.0:0.0:0.0	.	611	P10912	GHR_HUMAN	V	611;589;424	ENSP00000230882:A611V;ENSP00000350335:A589V;ENSP00000442206:A424V	ENSP00000230882:A611V	A	+	2	0	GHR	42755198	0.993000	0.37304	0.559000	0.28332	0.947000	0.59692	6.011000	0.70760	2.894000	0.99253	0.591000	0.81541	GCG	GHR	-	NULL		0.488	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	C	NM_000163		42719441	1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	0.972	T	T	42719441	C	T	42719441	3	4	122	1	0	0	0	0	1	0	0	0	6390	768	27	2	1866	2	GHR	5	42719441	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	32454568	42719441	138195819	11	19313										
CMYA5	202333	genome.wustl.edu	37	chr5	79033976	79033976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	acatattatctcatccagagAcccaaagccaaaactcagct	4	13	2	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr5:79033976A>G	ENST00000446378.2	+	2	9419	c.9388A>G	c.(9388-9390)Acc>Gcc	p.T3130A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3130					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCATCCAGAGACCCAAAGCCA	0.418																																																	0													53	52	52					5																	79033976		1861	4104	5965	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9388A>G	5.37:g.79033976A>G	ENSP00000394770:p.Thr3130Ala		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.T3130A	ENST00000446378.2	37	c.9388	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	2.073	-0.412548	0.04799	.	.	ENSG00000164309	ENST00000446378	T	0.17854	2.25	5.83	1.69	0.24217	.	0.585642	0.15708	N	0.248544	T	0.15262	0.0368	M	0.68317	2.08	0.09310	N	1	B	0.27229	0.172	B	0.19391	0.025	T	0.23619	-1.0183	10	0.54805	T	0.06	.	3.1666	0.06538	0.5635:0.2132:0.0771:0.1463	.	3130	Q8N3K9	CMYA5_HUMAN	A	3130	ENSP00000394770:T3130A	ENSP00000394770:T3130A	T	+	1	0	CMYA5	79069732	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.231000	0.17872	0.407000	0.25591	0.528000	0.53228	ACC	CMYA5	-	NULL		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	A	NM_153610		79033976	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.000	G	G	79033976	A	G	79033976	3	3	122	1	0	0	0	0	1	0	0	0	3595	275	10	5	9394	5	CMYA5	5	79033976	Missense_Mutation	SNP	A	TCGA-EX-A3L1-01A-11D-A21Q-09	36314535	79033976	101881284	12	19314										
COL12A1	1303	genome.wustl.edu	37	chr6	75843579	75843579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	acaagaaataattaccagttCctctggaccacctgctgctg	7	12	1	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr6:75843579C>T	ENST00000322507.8	-	33	5968	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K	COL12A1_ENST00000416123.2_Missense_Mutation_p.E1887K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E723K|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1887K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1887	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATTACCAGTTCCTCTGGACCA	0.433																																																	0													88	85	86					6																	75843579		1885	4115	6000	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5659G>A	6.37:g.75843579C>T	ENSP00000325146:p.Glu1887Lys		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E1887K	ENST00000322507.8	37	c.5659	CCDS43482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342773|4.342773	0.82022|0.82022	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55|.	5.86|5.86	4.98|4.98	0.66077|0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.077432|.	0.53938|.	D|.	0.000059|.	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.28649|0.28649	0.875|0.875	0.49389|0.49389	D|D	0.999783|0.999783	B;P|.	0.42735|.	0.079;0.788|.	B;P|.	0.45167|.	0.069;0.472|.	T|T	0.40384|0.40384	-0.9566|-0.9566	10|5	0.21014|.	T|.	0.42|.	.|.	16.9656|16.9656	0.86285|0.86285	0.0:0.8722:0.1278:0.0|0.0:0.8722:0.1278:0.0	.|.	723;1887|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	K|E	1887;1887;723;1887;1887|621	ENSP00000325146:E1887K;ENSP00000305147:E723K;ENSP00000412864:E1887K;ENSP00000421216:E1887K|.	ENSP00000325146:E1887K|.	E|G	-|-	1|2	0|0	COL12A1|COL12A1	75900299|75900299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	4.663000|4.663000	0.61532|0.61532	1.463000|1.463000	0.47967|0.47967	0.655000|0.655000	0.94253|0.94253	GAA|GGA	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75843579	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75843579	C	T	75843579	3	4	122	1	0	0	0	0	1	0	0	0	3674	864	30	1	3668	1	COL12A1	6	75843579	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09		75843579	95271488	13	19315										
SIM1	6492	genome.wustl.edu	37	chr6	100896461	100896461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gggaggcagcgagtggcccaCggccaccaggcccacgtttt	15	14	0	0			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr6:100896461C>T	ENST00000369208.3	-	7	1419	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	SIM1_ENST00000262901.4_Missense_Mutation_p.V213M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	213					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGTGGCCCACGGCCACCAGG	0.592																																																	0													54	50	52					6																	100896461		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.637G>A	6.37:g.100896461C>T	ENSP00000358210:p.Val213Met		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.V213M	ENST00000369208.3	37	c.637	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.237026	0.95240	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.74842	-0.88;-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85879	0.1421	10	0.51188	T	0.08	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	213	P81133	SIM1_HUMAN	M	213	ENSP00000358210:V213M;ENSP00000262901:V213M	ENSP00000262901:V213M	V	-	1	0	SIM1	101003182	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.487000	0.81328	2.614000	0.88457	0.655000	0.94253	GTG	SIM1	-	NULL		0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	C	NM_005068		100896461	-1	no_errors	ENST00000262901	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100896461	C	T	100896461	3	4	122	1	0	0	0	0	1	0	0	0	14353	536	19	2	1687	2	SIM1	6	100896461	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	25052882	100896461	70218606	14	19316										
IKBKB	3551	genome.wustl.edu	37	chr8	42174278	42174278	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	accatccacacctaccctgtGacagaggatgagagtctgca	9	13	1	3			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr8:42174278G>T	ENST00000520810.1	+	11	1167	c.981G>T	c.(979-981)gtG>gtT	p.V327V	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.V104V|IKBKB_ENST00000520835.1_Silent_p.V325V|IKBKB_ENST00000416505.2_Silent_p.V268V	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	327					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCTACCCTGTGACAGAGGATG	0.542																																																	0													75	66	69					8																	42174278		2203	4300	6503	SO:0001819	synonymous_variant	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.981G>T	8.37:g.42174278G>T			B4DZ30|B4E0U4|O75327	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V327	ENST00000520810.1	37	c.981	CCDS6128.1	8																																																																																			IKBKB	-	superfamily_Kinase-like_dom,pfscan_Ubiquitin_supergroup		0.542	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	G			42174278	1	no_errors	ENST00000520810	ensembl	human	known	70_37	silent	SNP	0.332	T	T	42174278	G	T	42174278	2	4	122	1	0	0	0	0	0	0	0	1	7631	1277	45	3		3	IKBKB	8	42174278	Silent	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		42174278	104189744	15	19317										
FAM75A1	647060	genome.wustl.edu	37	chr9	39361204	39361204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	acacccatcaggatgaaggcGtccagctactgccatcaaag	9	13	2	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr9:39361204G>A	ENST00000377647.3	+	4	3471	c.3442G>A	c.(3442-3444)Gtc>Atc	p.V1148I		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1148					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGATGAAGGCGTCCAGCTACT	0.423																																																	0													1	1	1					9																	39361204		330	878	1208	SO:0001583	missense	647060				CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 36", "family with sequence similarity 75, member A1"	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3442G>A	9.37:g.39361204G>A	ENSP00000366875:p.Val1148Ile			Missense_Mutation	SNP	NULL	p.V1148I	ENST00000377647.3	37	c.3442	CCDS43808.1	9	.	.	.	.	.	.	.	.	.	.	G	4.313	0.057487	0.08339	.	.	ENSG00000204849	ENST00000377647	T	0.04083	3.71	1.74	-3.48	0.04739	.	2.346610	0.02153	N	0.058215	T	0.02848	0.0085	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41215	-0.9521	10	0.16420	T	0.52	13.5942	0.096	0.00044	0.3575:0.195:0.1845:0.263	.	1148	Q5TZJ5	F75A1_HUMAN	I	1148	ENSP00000366875:V1148I	ENSP00000366875:V1148I	V	+	1	0	FAM75A1	39351204	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-3.144000	0.00585	-2.178000	0.00768	0.134000	0.15878	GTC	SPATA31A1	-	NULL		0.423	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A1	HGNC	protein_coding	OTTHUMT00000036910.1	G	NM_001085452		39361204	1	no_errors	ENST00000377647	ensembl	human	known	70_37	missense	SNP	0.000	A	A	39361204	G	A	39361204	3	1	122	1	0	0	0	0	1	0	0	0	5637	1145	40	2	3456	2	FAM75A1	9	39361204	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		39361204	101852227	16	19318										
CEP110	11064	genome.wustl.edu	37	chr9	123877440	123877440	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	aaattttgagagctactgaaGaatttaaacaactggaagaa	8	4	0	4			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr9:123877440G>A	ENST00000373855.1	+	11	1677	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CNTRL_ENST00000238341.5_Missense_Mutation_p.E473K|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	473					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCTACTGAAGAATTTAAACA	0.333																																																	0													80	82	82					9																	123877440		2202	4298	6500	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1417G>A	9.37:g.123877440G>A	ENSP00000362962:p.Glu473Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E473K	ENST00000373855.1	37	c.1417	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952661	0.92660	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.30714	1.52;1.52	5.09	5.09	0.68999	.	.	.	.	.	T	0.54631	0.1870	M	0.64997	1.995	0.42313	D	0.99222	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	T	0.57148	-0.7861	9	0.66056	D	0.02	.	17.8752	0.88823	0.0:0.0:1.0:0.0	.	473;473	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	K	473	ENSP00000362962:E473K;ENSP00000238341:E473K	ENSP00000238341:E473K	E	+	1	0	CNTRL	122917261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.805000	0.75191	2.537000	0.85549	0.655000	0.94253	GAA	CNTRL	-	NULL		0.333	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123877440	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123877440	G	A	123877440	3	1	122	1	0	0	0	0	1	0	0	0	3250	943	33	1	1451	1	CEP110	9	123877440	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	84516236	123877440	17335991	17	19319										
GAS2	2620	genome.wustl.edu	37	chr11	22759271	22759271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	tcctccacaagcaacccagaGaagtgtgtctctgtctgcta	8	13	2	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr11:22759271G>C	ENST00000454584.2	+	5	735	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	GAS2_ENST00000433790.1_Missense_Mutation_p.E144Q|GAS2_ENST00000278187.3_Missense_Mutation_p.E144Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	144	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCAACCCAGAGAAGTGTGTCT	0.493																																																	0													183	157	166					11																	22759271		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.430G>C	11.37:g.22759271G>C	ENSP00000401145:p.Glu144Gln		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.E144Q	ENST00000454584.2	37	c.430	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882887	0.33255	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.64	5.64	0.86602	Calponin homology domain (5);	0.051089	0.85682	D	0.000000	D	0.84817	0.5556	N	0.01297	-0.9	0.49299	D	0.999778	B	0.29508	0.246	B	0.37091	0.241	T	0.83218	-0.0070	10	0.06099	T	0.92	-19.4183	17.5008	0.87731	0.0:0.0:1.0:0.0	.	144	O43903	GAS2_HUMAN	Q	144	ENSP00000432584:E144Q;ENSP00000401145:E144Q;ENSP00000278187:E144Q;ENSP00000433182:E144Q;ENSP00000435946:E144Q;ENSP00000396708:E144Q	ENSP00000278187:E144Q	E	+	1	0	GAS2	22715847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.950000	0.75977	2.664000	0.90586	0.650000	0.86243	GAA	GAS2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.493	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	G	NM_177553		22759271	1	no_errors	ENST00000278187	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22759271	G	C	22759271	3	2	122	1	0	0	0	0	1	0	0	0	6264	943	33	1	444	1	GAS2	11	22759271	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		22759271	112247245	18	19320										
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	5	8	1	1	rs76509850	byFrequency	TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.Y277Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	A	NM_004476		49204790	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49204790	A	G	49204790	2	3	122	1	0	0	0	0	0	0	0	1	5997	224	8	5		5	FOLH1	11	49204790	Silent	SNP	A	TCGA-EX-A3L1-01A-11D-A21Q-09	26445519	49204790	85801726	19	19321										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43856750	43856750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gtggcacgtgttgagtgaaaCagcctttgtgaagcttttct	12	7	1	3			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr12:43856750C>T	ENST00000389420.3	-	11	1561	c.1562G>A	c.(1561-1563)tGt>tAt	p.C521Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C521Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	521	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGAGTGAAACAGCCTTTGTG	0.453																																																	0													160	125	137					12																	43856750		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1562G>A	12.37:g.43856750C>T	ENSP00000374071:p.Cys521Tyr		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C521Y	ENST00000389420.3	37	c.1562	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903945	0.52333	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.07021	3.23;3.23	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000019	T	0.46347	0.1388	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67639	-0.5619	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	521	P59510	ATS20_HUMAN	Y	521	ENSP00000374071:C521Y;ENSP00000448341:C521Y	ENSP00000374068:C521Y	C	-	2	0	ADAMTS20	42143017	1.000000	0.71417	0.974000	0.42286	0.036000	0.12997	7.349000	0.79376	2.555000	0.86185	0.655000	0.94253	TGT	ADAMTS20	-	NULL		0.453	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43856750	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43856750	C	T	43856750	3	4	122	1	0	0	0	0	1	0	0	0	266	478	17	4	4285	4	ADAMTS20	12	43856750	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09		43856750	89995145	20	19322										
ANO6	196527	genome.wustl.edu	37	chr12	45751137	45751137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gctattacactcagatgcttCtcctggccgcagttgtagga	10	11	2	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr12:45751137C>T	ENST00000320560.8	+	8	1130	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ANO6_ENST00000441606.2_Missense_Mutation_p.L292F|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.L310F|ANO6_ENST00000435642.1_Missense_Mutation_p.L310F|ANO6_ENST00000423947.3_Missense_Mutation_p.L331F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	310					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCAGATGCTTCTCCTGGCCGC	0.403																																																	0													129	129	129					12																	45751137		2203	4300	6503	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.928C>T	12.37:g.45751137C>T	ENSP00000320087:p.Leu310Phe		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.L310F	ENST00000320560.8	37	c.928	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000376	0.02128	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.26	4.37	0.52481	.	0.448978	0.24996	N	0.033941	T	0.53302	0.1788	L	0.37561	1.115	0.09310	N	1	B;B;B;B	0.16166	0.0;0.0;0.005;0.016	B;B;B;B	0.22386	0.004;0.004;0.01;0.039	T	0.38090	-0.9677	10	0.23302	T	0.38	.	9.0868	0.36586	0.2286:0.6964:0.0:0.0749	.	292;331;310;310	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	F	310;331;310;310;292	ENSP00000391417:L310F;ENSP00000409126:L331F;ENSP00000413840:L310F;ENSP00000320087:L310F;ENSP00000413137:L292F	ENSP00000320087:L310F	L	+	1	0	ANO6	44037404	0.001000	0.12720	0.195000	0.23364	0.925000	0.55904	0.430000	0.21428	1.540000	0.49301	0.655000	0.94253	CTC	ANO6	-	pfam_Anoctamin		0.403	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	C	XM_113743		45751137	1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	0.011	T	T	45751137	C	T	45751137	3	4	122	1	0	0	0	0	1	0	0	0	701	913	32	1	978	1	ANO6	12	45751137	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	1894387	45751137	88100758	21	19323										
C16orf90	646174	genome.wustl.edu	37	chr16	3544593	3544593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	acagaggctgttacgtgggcCcagagtcccctgtggcaggt	15	11	0	2			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:3544593C>A	ENST00000437192.3	-	2	333	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	101										large_intestine(1)	1						TTACGTGGGCCCAGAGTCCCC	0.667																																																	0													25	26	26					16																	3544593		1937	4121	6058	SO:0001583	missense	646174				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.331G>T	16.37:g.3544593C>A	ENSP00000401335:p.Gly111Cys			Missense_Mutation	SNP	NULL	p.G111C	ENST00000437192.3	37	c.331	CCDS45397.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.29|18.29	3.591830|3.591830	0.66219|0.66219	.|.	.|.	ENSG00000215131|ENSG00000215131	ENST00000437192|ENST00000399645	.|.	.|.	.|.	5.61|5.61	-0.832|-0.832	0.10785|0.10785	.|.	1.027120|1.027120	0.07856|0.07856	U|U	0.965463|0.965463	T|T	0.41465|0.41465	0.1160|0.1160	M|M	0.65975|0.65975	2.015|2.015	0.28012|0.28012	N|N	0.934885|0.934885	D|.	0.76494|.	0.999|.	D|.	0.63192|.	0.912|.	T|T	0.47182|0.47182	-0.9137|-0.9137	9|6	0.66056|.	D|.	0.02|.	-14.0359|-14.0359	1.9474|1.9474	0.03359|0.03359	0.1381:0.4514:0.1354:0.2751|0.1381:0.4514:0.1354:0.2751	.|.	111|.	A8MZG2-2|.	.|.	C|V	111|119	.|.	ENSP00000401335:G111C|.	G|G	-|-	1|2	0|0	C16orf90|C16orf90	3484594|3484594	0.001000|0.001000	0.12720|0.12720	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	0.062000|0.062000	0.14389|0.14389	0.223000|0.223000	0.20920|0.20920	0.655000|0.655000	0.94253|0.94253	GGC|GGG	C16orf90	-	NULL		0.667	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf90	HGNC	protein_coding	OTTHUMT00000346319.2	C	NM_001080524		3544593	-1	no_errors	ENST00000437192	ensembl	human	known	70_37	missense	SNP	0.978	A	A	3544593	C	A	3544593	3	1	122	1	0	0	0	0	1	0	0	0	1847	623	22	4	225	4	C16orf90	16	3544593	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09		3544593	86810160	22	19324										
NDE1	54820	genome.wustl.edu	37	chr16	15790663	15790663	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	tgggcggagcagcaagaacaGagatggcggggagagacggc	20	7	0	3			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:15790663G>C	ENST00000396353.2	+	9	1719	c.893G>C	c.(892-894)aGa>aCa	p.R298T	NDE1_ENST00000396354.1_Missense_Mutation_p.R298T|NDE1_ENST00000396355.1_Missense_Mutation_p.R298T|NDE1_ENST00000342673.5_Missense_Mutation_p.R298T			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	298					centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGCAAGAACAGAGATGGCGGG	0.607																																																	0													78	77	77					16																	15790663		2197	4300	6497	SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.893G>C	16.37:g.15790663G>C	ENSP00000379641:p.Arg298Thr		Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.R298T	ENST00000396353.2	37	c.893		16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975284	0.74360	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.56	5.56	0.83823	NUDE protein, C-terminal (1);	0.204674	0.51477	D	0.000092	T	0.68329	0.2989	M	0.70595	2.14	0.50813	D	0.999897	P;P	0.48589	0.912;0.608	P;B	0.47603	0.551;0.175	T	0.65446	-0.6166	9	0.22109	T	0.4	-17.8583	18.5235	0.90962	0.0:0.0:1.0:0.0	.	298;298	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	T	298	.	ENSP00000345892:R298T	R	+	2	0	NDE1	15698164	1.000000	0.71417	0.994000	0.49952	0.337000	0.28794	7.263000	0.78421	2.607000	0.88179	0.655000	0.94253	AGA	NDE1	-	pfam_NUDE_C		0.607	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		G	NM_017668		15790663	1	no_errors	ENST00000396353	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15790663	G	C	15790663	3	2	122	1	0	0	0	0	1	0	0	0	10267	942	33	1	919	1	NDE1	16	15790663	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	12246070	15790663	74564090	23	19325										
OTOA	146183	genome.wustl.edu	37	chr16	21690532	21690532	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ggatctcatacagtttcaaaGgtaaaatgccctagaggaga	10	7	2	2			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:21690532G>C	ENST00000286149.4	+	4	180	c.179G>C	c.(178-180)aGc>aCc	p.S60T	OTOA_ENST00000388958.3_Splice_Site_p.S60T			Q7RTW8	OTOAN_HUMAN	otoancorin	60					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343																																																	0													95	98	97					16																	21690532		2198	4300	6498	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.179+1G>C	16.37:g.21690532G>C			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.S60T	ENST00000286149.4	37	c.179		16	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679640	0.68042	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.68025	-0.3;-0.3	5.99	5.99	0.97316	.	0.262435	0.39274	N	0.001416	T	0.67979	0.2951	L	0.59436	1.845	0.80722	D	1	P	0.39480	0.675	B	0.41813	0.367	T	0.70296	-0.4911	10	0.62326	D	0.03	-0.6554	16.0274	0.80553	0.0:0.0:1.0:0.0	.	60	E9PF51	.	T	60	ENSP00000373610:S60T;ENSP00000286149:S60T	ENSP00000286149:S60T	S	+	2	0	OTOA	21598033	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.862000	0.69560	2.846000	0.97976	0.644000	0.83932	AGC	OTOA	-	NULL		0.343	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	G		Missense_Mutation	21690532	1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21690532	G	C	21690532	5	2	122	1	0	0	0	0	0	0	1	0	11326	1014	35	4	193	4	OTOA	16	21690532	Splice_Site	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	5899869	21690532	68664221	24	19326										
SLC5A11	115584	genome.wustl.edu	37	chr16	24922824	24922824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ctcattttctgcgtgagctgCgccatctttatctggggcta	10	11	4	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:24922824C>T	ENST00000347898.3	+	16	2620	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	SLC5A11_ENST00000569071.1_Silent_p.C510C|SLC5A11_ENST00000545376.1_Silent_p.C596C|SLC5A11_ENST00000539472.1_Silent_p.C602C|SLC5A11_ENST00000568579.1_Silent_p.C596C|SLC5A11_ENST00000565769.1_Silent_p.C602C|SLC5A11_ENST00000449109.2_Silent_p.C510C|SLC5A11_ENST00000567758.1_Silent_p.C631C|SLC5A11_ENST00000424767.2_Silent_p.C631C	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.C666C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCGTGAGCTGCGCCATCTTTA	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											153	153	153					16																	24922824		2197	4300	6497	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1998C>T	16.37:g.24922824C>T				Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.C666	ENST00000347898.3	37	c.1998	CCDS10625.1	16																																																																																			SLC5A11	-	NULL		0.478	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	C	NM_052944		24922824	1	no_errors	ENST00000347898	ensembl	human	known	70_37	silent	SNP	0.006	T	T	24922824	C	T	24922824	2	4	122	1	0	0	0	0	0	0	0	1	14693	776	27	2		2	SLC5A11	16	24922824	Silent	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	3232292	24922824	65431929	25	19327										
NQO1	1728	genome.wustl.edu	37	chr16	69745052	69745052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	agcaaaatacagtggtgtctCatcccaaatattctccaggc	7	11	2	0			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:69745052C>T	ENST00000320623.5	-	6	1163	c.652G>A	c.(652-654)Gag>Aag	p.E218K	NQO1_ENST00000564043.1_Missense_Mutation_p.E197K|NQO1_ENST00000379046.2_Missense_Mutation_p.E180K|snoU13_ENST00000459361.1_RNA|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000439109.2_Missense_Mutation_p.E146K|NQO1_ENST00000379047.3_Missense_Mutation_p.E184K|NQO1_ENST00000561500.1_Missense_Mutation_p.E180K	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	218					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AGTGGTGTCTCATCCCAAATA	0.443																																																	0													161	170	167					16																	69745052		2198	4300	6498	SO:0001583	missense	1728			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.652G>A	16.37:g.69745052C>T	ENSP00000319788:p.Glu218Lys		B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	pfam_Flavodoxin_fold,pfam_FMN_red	p.E218K	ENST00000320623.5	37	c.652	CCDS10883.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.518850	0.96416	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.41	5.41	0.78517	.	0.047534	0.85682	D	0.000000	T	0.28797	0.0714	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.87578	0.996;0.998;0.987;0.97	T	0.00468	-1.1721	10	0.28530	T	0.3	-27.0231	18.3313	0.90270	0.0:1.0:0.0:0.0	.	146;180;184;218	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	K	218;184;180;146	ENSP00000319788:E218K;ENSP00000368335:E184K;ENSP00000368334:E180K;ENSP00000398330:E146K	ENSP00000319788:E218K	E	-	1	0	NQO1	68302553	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.324000	0.79115	2.696000	0.92011	0.655000	0.94253	GAG	NQO1	-	NULL		0.443	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO1	HGNC	protein_coding	OTTHUMT00000268956.2	C			69745052	-1	no_errors	ENST00000320623	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69745052	C	T	69745052	3	4	122	1	0	0	0	0	1	0	0	0	10635	835	29	1	176	1	NQO1	16	69745052	Missense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	44822228	69745052	20609701	26	19328										
EPN3	55040	genome.wustl.edu	37	chr17	48618234	48618234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ctccgatcccctcaggaaccGtcctgtcccgaagccagccc	8	20	1	0			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr17:48618234G>A	ENST00000268933.3	+	7	1639	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.V382I|EPN3_ENST00000541226.1_Silent_p.P241P	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	354	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTCAGGAACCGTCCTGTCCCG	0.637																																																	0													48	49	49					17																	48618234		2203	4300	6503	SO:0001583	missense	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1060G>A	17.37:g.48618234G>A	ENSP00000268933:p.Val354Ile		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.V382I	ENST00000268933.3	37	c.1144	CCDS11570.1	17	.	.	.	.	.	.	.	.	.	.	G	1.293	-0.607099	0.03717	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.13901	2.55;2.55	5.23	-6.66	0.01789	.	2.837540	0.01592	N	0.021601	T	0.05593	0.0147	N	0.02802	-0.49	0.09310	N	1	B;B;B	0.21381	0.01;0.055;0.003	B;B;B	0.14578	0.003;0.011;0.001	T	0.33523	-0.9865	10	0.31617	T	0.26	0.0845	9.5224	0.39143	0.1907:0.2284:0.5808:0.0	.	382;382;354	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	I	354;382;382	ENSP00000268933:V354I;ENSP00000439512:V382I	ENSP00000268933:V354I	V	+	1	0	EPN3	45973233	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.715000	0.04997	-0.775000	0.04584	-1.342000	0.01247	GTC	EPN3	-	NULL		0.637	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1	G	NM_017957		48618234	1	no_errors	ENST00000537145	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48618234	G	A	48618234	3	1	122	1	0	0	0	0	1	0	0	0	5199	1145	40	2	1082	2	EPN3	17	48618234	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		48618234	32576976	27	19329										
SMAD4	4089	genome.wustl.edu	37	chr18	48603032	48603032	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ttgatttgcgtcagtgtcatCgacagatgcagcagcaggcg	13	9	2	2	rs377767360		TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr18:48603032C>T	ENST00000342988.3	+	11	1871	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R445*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R349*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	445	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R445*(7)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGTGTCATCGACAGATGCA	0.458																																																	46	Whole gene deletion(36)|Substitution - Nonsense(7)|Unknown(2)|Deletion - Frameshift(1)	pancreas(30)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)|NS(1)	GRCh37	CM000742	SMAD4	M							43	44	44					18																	48603032		2203	4300	6503	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1333C>T	18.37:g.48603032C>T	ENSP00000341551:p.Arg445*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R445*	ENST00000342988.3	37	c.1333	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.519426	0.99193	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000341551:R445X	R	+	1	2	SMAD4	46857030	1.000000	0.71417	0.643000	0.29450	0.984000	0.73092	4.861000	0.62969	2.861000	0.98227	0.655000	0.94253	CGA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48603032	1	no_errors	ENST00000342988	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48603032	C	T	48603032	4	4	122	1	0	0	0	0	0	1	0	0	14790	876	31	1	1371	1	SMAD4	18	48603032	Nonsense_Mutation	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09		48603032	29474216	28	19330										
MUC16	94025	genome.wustl.edu	37	chr19	9068304	9068304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	caaagaccgtgcttgtgtctGaggatgagccaattttctgg	12	8	2	3			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr19:9068304G>A	ENST00000397910.4	-	3	19345	c.19142C>T	c.(19141-19143)tCa>tTa	p.S6381L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6383	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGTGTCTGAGGATGAGCC	0.473																																																	0													86	82	83					19																	9068304		1957	4144	6101	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19142C>T	19.37:g.9068304G>A	ENSP00000381008:p.Ser6381Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S6381L	ENST00000397910.4	37	c.19142	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.462	0.453355	0.12283	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.36	-3.85	0.04243	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.47837	-0.9086	8	0.87932	D	0	.	0.329	0.00315	0.3015:0.2256:0.2828:0.1902	.	6381	B5ME49	.	L	6381	ENSP00000381008:S6381L	ENSP00000381008:S6381L	S	-	2	0	MUC16	8929304	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.227000	0.09126	-0.673000	0.05259	0.177000	0.17058	TCA	MUC16	-	NULL		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9068304	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9068304	G	A	9068304	3	1	122	1	0	0	0	0	1	0	0	0	9996	1294	45	1	24709	1	MUC16	19	9068304	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		9068304	50060679	29	19331										
NOTCH3	4854	genome.wustl.edu	37	chr19	15280981	15280981	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	ctctcacccttggccatgttCctggcggacaatgggaagag	12	12	1	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr19:15280981C>T	ENST00000263388.2	-	28	5190	c.5115G>A	c.(5113-5115)aaG>aaA	p.K1705K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1705					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCATGTTCCTGGCGGACA	0.612																																																	0													39	28	32					19																	15280981		2203	4300	6503	SO:0001630	splice_region_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5115-1G>A	19.37:g.15280981C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.K1705	ENST00000263388.2	37	c.5115	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435	Silent	15280981	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15280981	C	T	15280981	5	4	122	1	0	0	0	0	0	0	1	0	10574	869	30	1	1874	1	NOTCH3	19	15280981	Splice_Site	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09	6212677	15280981	43848002	30	19332										
GLTSCR1	29998	genome.wustl.edu	37	chr19	48204833	48204833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	cctctgccgcctcctccttgGacgccgacgaggacggcccc	11	20	1	0			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr19:48204833G>A	ENST00000396720.3	+	15	4038	c.3844G>A	c.(3844-3846)Gac>Aac	p.D1282N	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1282										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		ctcctcctTGGACGCCGACGA	0.711																																																	0													5	8	7					19																	48204833		2000	4084	6084	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3844G>A	19.37:g.48204833G>A	ENSP00000379946:p.Asp1282Asn		A8MW01	Missense_Mutation	SNP	NULL	p.D1282N	ENST00000396720.3	37	c.3844	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701755	0.30142	.	.	ENSG00000063169	ENST00000396720	T	0.34072	1.38	3.45	2.39	0.29439	.	.	.	.	.	T	0.28732	0.0712	L	0.27053	0.805	0.33802	D	0.626838	B	0.29716	0.255	B	0.35510	0.204	T	0.42699	-0.9436	9	0.62326	D	0.03	.	10.8725	0.46891	0.0:0.0:0.8098:0.1902	.	1282	Q9NZM4	GSCR1_HUMAN	N	1282	ENSP00000379946:D1282N	ENSP00000379946:D1282N	D	+	1	0	GLTSCR1	52896645	1.000000	0.71417	0.786000	0.31890	0.221000	0.24807	3.166000	0.50785	0.638000	0.30545	0.313000	0.20887	GAC	GLTSCR1	-	NULL		0.711	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	G	NM_015711		48204833	1	no_errors	ENST00000396720	ensembl	human	known	70_37	missense	SNP	0.942	A	A	48204833	G	A	48204833	3	1	122	1	0	0	0	0	1	0	0	0	6493	1174	41	1	3894	1	GLTSCR1	19	48204833	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	32923852	48204833	10924150	31	19333										
MMP24	10893	genome.wustl.edu	37	chr20	33855066	33855066	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	cctacactccccgtccgcagGatccactcaccatcggagag	8	18	1	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr20:33855066G>A	ENST00000246186.6	+	6	1123	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	346					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCGTCCGCAGGATCCACTCAC	0.667																																																	0													20	25	24					20																	33855066		1912	4111	6023	SO:0001819	synonymous_variant	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1038G>A	20.37:g.33855066G>A			B7ZBG8|Q9H440	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R346	ENST00000246186.6	37	c.1038	CCDS46593.1	20																																																																																			MMP24	-	pirsf_Pept_M10A_matrix_strom		0.667	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	G	NM_006690		33855066	1	no_errors	ENST00000246186	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33855066	G	A	33855066	2	1	122	1	0	0	0	0	0	0	0	1	9684	1165	41	1		1	MMP24	20	33855066	Silent	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09		33855066	29170454	32	19334										
TUBA8	51807	genome.wustl.edu	37	chr22	18609310	18609310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	tggagccctacaactccatcCtgaccacccacaccacactg	5	19	0	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr22:18609310C>T	ENST00000330423.3	+	4	638	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	TUBA8_ENST00000316027.6_Silent_p.L123L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	189					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CAACTCCATCCTGACCACCCA	0.542																																																	0													141	127	132					22																	18609310		2203	4300	6503	SO:0001819	synonymous_variant	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.565C>T	22.37:g.18609310C>T			B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.L189	ENST00000330423.3	37	c.565	CCDS13751.1	22																																																																																			TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin		0.542	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	C	NM_018943		18609310	1	no_errors	ENST00000330423	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18609310	C	T	18609310	2	4	122	1	0	0	0	0	0	0	0	1	16781	680	24	4		4	TUBA8	22	18609310	Silent	SNP	C	TCGA-EX-A3L1-01A-11D-A21Q-09		18609310	32695256	33	19335										
TRIOBP	11078	genome.wustl.edu	37	chr22	38130892	38130892	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.323529411764706	11	0.000676594819250638	3.12990580847724	6.16496598639456	2.21938775510204	1	1	7	gcccactcacgagcccccctGagaactggggaggccccgca	12	18	1	1			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr22:38130892G>C	ENST00000406386.3	+	9	4804	c.4549G>C	c.(4549-4551)Gag>Cag	p.E1517Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1517					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGCCCCCCTGAGAACTGGGG	0.647																																																	0													30	34	33					22																	38130892		1873	4092	5965	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4549G>C	22.37:g.38130892G>C	ENSP00000384312:p.Glu1517Gln		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1517Q	ENST00000406386.3	37	c.4549	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108720	0.20714	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20332	2.08	5.64	3.23	0.37069	.	.	.	.	.	T	0.16257	0.0391	L	0.27053	0.805	0.09310	N	1	P	0.48764	0.915	P	0.47603	0.551	T	0.04386	-1.0955	9	0.10377	T	0.69	.	8.5465	0.33424	0.2026:0.0:0.7974:0.0	.	1517	Q9H2D6	TARA_HUMAN	Q	1517;1478	ENSP00000384312:E1517Q	ENSP00000384312:E1517Q	E	+	1	0	TRIOBP	36460838	0.551000	0.26497	0.007000	0.13788	0.022000	0.10575	2.114000	0.41911	1.375000	0.46248	0.563000	0.77884	GAG	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130892	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.001	C	C	38130892	G	C	38130892	3	2	122	1	0	0	0	0	1	0	0	0	16584	1291	45	1	4575	1	TRIOBP	22	38130892	Missense_Mutation	SNP	G	TCGA-EX-A3L1-01A-11D-A21Q-09	19521582	38130892	13173674	34	19336										
MTOR	2475	genome.wustl.edu	37	chr1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	tttgtagtgtagcacagcttCgaagttcatcactgcccacg	9	11	2	0			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:11190804C>T	ENST00000361445.4	-	39	5471	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.E4K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1799	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E1799K(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGCACAGCTTCGAAGTTCATC	0.582																																																	4	Substitution - Missense(4)	endometrium(2)|large_intestine(1)|prostate(1)											121	74	90					1																	11190804		2200	4300	6500	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5395G>A	1.37:g.11190804C>T	ENSP00000354558:p.Glu1799Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1799K	ENST00000361445.4	37	c.5395	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414915	0.83449	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.71934	-0.61;-0.61	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.052549	0.85682	D	0.000000	T	0.71273	0.3320	L	0.49126	1.545	0.80722	D	1	P	0.46457	0.878	P	0.44897	0.463	T	0.71540	-0.4562	10	0.41790	T	0.15	-10.2886	19.5023	0.95100	0.0:1.0:0.0:0.0	.	1799	P42345	MTOR_HUMAN	K	1799;4	ENSP00000354558:E1799K;ENSP00000366034:E4K	ENSP00000354558:E1799K	E	-	1	0	MTOR	11113391	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.447000	0.80620	2.605000	0.88082	0.591000	0.81541	GAA	MTOR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11190804	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11190804	C	T	11190804	3	4	123	1	0	0	0	0	1	0	0	0	9977	893	31	1	2334	1	MTOR	1	11190804	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09		11190804	238059817	1	19337										
ARID1A	8289	genome.wustl.edu	37	chr1	27100152	27100152	+	Frame_Shift_Del	DEL	G	G	-													0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	atgccttccaacccagactcGgggatgtattctcctagccg							TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:27100152delG	ENST00000324856.7	+	16	4319	c.3948delG	c.(3946-3948)tcgfs	p.S1316fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S933fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1316fs|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCAGACTCGGGGATGTATT	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Deletion - Frameshift(1)	ovary(1)											55	63	61					1																	27100152		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3948delG	1.37:g.27100152delG	ENSP00000320485:p.Ser1316fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M1318fs	ENST00000324856.7	37	c.3948	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27100152	1	no_errors	ENST00000324856	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	27100152	G	-	27100152	7	5	123	1	0	1	0	1	0	0	0	0	913	1103	39	0	4010	0	ARID1A	1	27100152	Frame_Shift_Del	DEL	G	TCGA-EX-A449-01A-11D-A243-09	15909348	27100152	222150469	2	19338										
PHC2	1912	genome.wustl.edu	37	chr1	33799839	33799839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cagagtttccgttccctgagGtcatgccggggctgctgagg	15	11	1	3			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:33799839G>T	ENST00000257118.5	-	9	1663	c.1610C>A	c.(1609-1611)aCc>aAc	p.T537N	PHC2_ENST00000485928.1_5'UTR|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.T2N|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373422.3_Missense_Mutation_p.T143N|PHC2_ENST00000431992.1_Missense_Mutation_p.T508N|PHC2_ENST00000373416.1_Missense_Mutation_p.T2N|PHC2_ENST00000419414.2_Missense_Mutation_p.T538N	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	537					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTTCCCTGAGGTCATGCCGGG	0.567																																																	0													133	128	129					1																	33799839		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1610C>A	1.37:g.33799839G>T	ENSP00000257118:p.Thr537Asn		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.T538N	ENST00000257118.5	37	c.1613	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922969	0.92319	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	6.17	6.17	0.99709	.	0.046262	0.85682	D	0.000000	T	0.69780	0.3149	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.60984	-0.7154	10	0.15499	T	0.54	-11.3289	18.3732	0.90420	0.0:0.0:1.0:0.0	.	538;509;537	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	N	508;537;143;2;116;538;2	ENSP00000389436:T508N;ENSP00000257118:T537N;ENSP00000362521:T143N;ENSP00000391440:T538N	ENSP00000257118:T537N	T	-	2	0	PHC2	33572426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.524000	0.90579	2.941000	0.99782	0.655000	0.94253	ACC	PHC2	-	NULL		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33799839	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33799839	G	T	33799839	3	4	123	1	0	0	0	0	1	0	0	0	11841	1261	44	4	990	4	PHC2	1	33799839	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09	6699687	33799839	215450782	3	19339										
CACNA1S	779	genome.wustl.edu	37	chr1	201031122	201031122	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	aagagggacatcatggctgaGagcacattgtcgaagtggaa	14	6	1	2			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:201031122G>A	ENST00000362061.3	-	24	3229	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	CACNA1S_ENST00000367338.3_Silent_p.L1001L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1001	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATGGCTGAGAGCACATTGT	0.582																																																	0													157	108	125					1																	201031122		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3003C>T	1.37:g.201031122G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.L1001	ENST00000362061.3	37	c.3003	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201031122	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	silent	SNP	0.817	A	A	201031122	G	A	201031122	2	1	123	1	0	0	0	0	0	0	0	1	2552	929	33	1		1	CACNA1S	1	201031122	Silent	SNP	G	TCGA-EX-A449-01A-11D-A243-09	167231283	201031122	48219499	4	19340										
DYSF	8291	genome.wustl.edu	37	chr2	71817400	71817400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cccgggacctggctgcgatgGacaaggactctttttctggt	13	11	2	0			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr2:71817400G>A	ENST00000258104.3	+	32	3779	c.3502G>A	c.(3502-3504)Gac>Aac	p.D1168N	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.D1169N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1169N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1168N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1200N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1186N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1199N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1185N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1155N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1186N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1185N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1168	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCTGCGATGGACAAGGACTC	0.557																																																	0													115	106	109					2																	71817400		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3502G>A	2.37:g.71817400G>A	ENSP00000258104:p.Asp1168Asn		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.D1199N	ENST00000258104.3	37	c.3595	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.109142	0.94292	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93841	0.8030	H	0.95917	3.74	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.996;0.999;1.0;0.999;0.986;0.999;0.999	D	0.95153	0.8274	10	0.66056	D	0.02	-36.4779	15.0971	0.72244	0.0:0.0:1.0:0.0	.	1200;1186;1169;1155;1186;1155;1185;1154;1199;1185;1168;1154;1169;1168	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1199;1185;1185;1168;1168;1200;1169;1155;1169;1186;1186	ENSP00000407046:D1199N;ENSP00000387137:D1185N;ENSP00000386547:D1185N;ENSP00000398305:D1168N;ENSP00000258104:D1168N;ENSP00000386683:D1200N;ENSP00000377678:D1169N;ENSP00000386285:D1155N;ENSP00000386512:D1169N;ENSP00000386881:D1186N;ENSP00000386617:D1186N	ENSP00000258104:D1168N	D	+	1	0	DYSF	71670908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.295000	0.96095	2.636000	0.89361	0.591000	0.81541	GAC	DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	G	NM_003494		71817400	1	no_errors	ENST00000413539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71817400	G	A	71817400	3	1	123	1	0	0	0	0	1	0	0	0	4869	1174	41	1	3820	1	DYSF	2	71817400	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		71817400	171381973	5	19341										
C1QL2	165257	genome.wustl.edu	37	chr2	119915184	119915184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	gcccgttcttgcagaggtccGcccacatgctggtgccgtcg	13	15	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr2:119915184G>A	ENST00000272520.3	-	1	1281	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCAGAGGTCCGCCCACATGCT	0.642										HNSCC(49;0.14)																																							0													48	53	51					2																	119915184		2201	4300	6501	SO:0001583	missense	165257			AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.662C>T	2.37:g.119915184G>A	ENSP00000272520:p.Ala221Val			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.A221V	ENST00000272520.3	37	c.662	CCDS42737.1	2	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174980	0.38413	.	.	ENSG00000144119	ENST00000272520	T	0.72615	-0.67	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.48804	0.1520	N	0.04275	-0.24	0.80722	D	1	P	0.37176	0.586	B	0.35813	0.211	T	0.52019	-0.8631	9	.	.	.	.	16.7477	0.85477	0.0:0.0:1.0:0.0	.	221	Q7Z5L3	C1QL2_HUMAN	V	221	ENSP00000272520:A221V	.	A	-	2	0	C1QL2	119631654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.541000	0.85698	0.561000	0.74099	GCG	C1QL2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL2	HGNC	protein_coding	OTTHUMT00000330527.2	G	NM_182528		119915184	-1	no_errors	ENST00000272520	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119915184	G	A	119915184	3	1	123	1	0	0	0	0	1	0	0	0	1964	1087	38	2	209	2	C1QL2	2	119915184	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09	48097784	119915184	123284189	6	19342										
CDHR4	389118	genome.wustl.edu	37	chr3	49831352	49831352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ccagtagagtgtggggcgccGcatcctcctgaacccggaac	13	14	0	2			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr3:49831352G>A	ENST00000412678.2	-	11	1375	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	456	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GTGGGGCGCCGCATCCTCCTG	0.577																																																	0													77	71	73					3																	49831352		692	1591	2283	SO:0001583	missense	389118				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1367C>T	3.37:g.49831352G>A	ENSP00000391409:p.Ala456Val		Q6UXT0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A456V	ENST00000412678.2	37	c.1367	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646898	0.47258	.	.	ENSG00000187492	ENST00000412678	T	0.55588	0.51	5.37	4.49	0.54785	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.48874	0.1524	L	0.41492	1.28	0.80722	D	1	D	0.57257	0.979	P	0.48304	0.573	T	0.43147	-0.9409	9	0.35671	T	0.21	.	11.813	0.52194	0.0824:0.0:0.9176:0.0	.	456	A6H8M9	CDHR4_HUMAN	V	456	ENSP00000391409:A456V	ENSP00000391409:A456V	A	-	2	0	CDHR4	49806356	0.990000	0.36364	0.728000	0.30774	0.037000	0.13140	3.309000	0.51903	1.271000	0.44313	0.650000	0.86243	GCG	CDHR4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.577	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	G	NM_001007540		49831352	-1	no_errors	ENST00000412678	ensembl	human	known	70_37	missense	SNP	0.963	A	A	49831352	G	A	49831352	3	1	123	1	0	0	0	0	1	0	0	0	3126	1087	38	2	1035	2	CDHR4	3	49831352	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		49831352	148191078	7	19343										
SCD5	79966	genome.wustl.edu	37	chr4	83601868	83601868	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ccattcacttactttctctgGatccggaccacaggatcagc	7	14	3	0			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr4:83601868G>A	ENST00000319540.4	-	3	880	c.561C>T	c.(559-561)atC>atT	p.I187I	SCD5_ENST00000273908.4_Silent_p.I187I	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	187					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACTTTCTCTGGATCCGGACCA	0.512																																																	0													82	77	79					4																	83601868		2203	4300	6503	SO:0001819	synonymous_variant	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.561C>T	4.37:g.83601868G>A			B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.I187	ENST00000319540.4	37	c.561	CCDS34024.1	4																																																																																			SCD5	-	pfam_Fatty_acid_desaturase-1		0.512	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	G	NM_024906		83601868	-1	no_errors	ENST00000319540	ensembl	human	known	70_37	silent	SNP	1.000	A	A	83601868	G	A	83601868	2	1	123	1	0	0	0	0	0	0	0	1	13917	1164	41	1		1	SCD5	4	83601868	Silent	SNP	G	TCGA-EX-A449-01A-11D-A243-09		83601868	107552408	8	19344										
FAT4	79633	genome.wustl.edu	37	chr4	126408724	126408724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cttactatatcacttggaggAattccacccaatcaagcaca	5	12	2	0			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr4:126408724A>G	ENST00000394329.3	+	16	13054	c.13041A>G	c.(13039-13041)ggA>ggG	p.G4347G	FAT4_ENST00000335110.5_Silent_p.G2588G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4347	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTTGGAGGAATTCCACCCA	0.393																																																	0													70	68	69					4																	126408724		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13041A>G	4.37:g.126408724A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4347	ENST00000394329.3	37	c.13041	CCDS3732.3	4																																																																																			FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126408724	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.995	G	G	126408724	A	G	126408724	2	3	123	1	0	0	0	0	0	0	0	1	5710	233	9	5		5	FAT4	4	126408724	Silent	SNP	A	TCGA-EX-A449-01A-11D-A243-09	42806856	126408724	64745552	9	19345										
PCDHGA5	56110	genome.wustl.edu	37	chr5	140745607	140745607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	taccccgccctccccacagaCggttccacgggcgtggagct	11	18	0	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr5:140745607C>T	ENST00000518069.1	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACGG	0.622																																																	0													124	137	133					5																	140745607		2203	4300	6503	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1710C>T	5.37:g.140745607C>T			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D570	ENST00000518069.1	37	c.1710	CCDS54925.1	5																																																																																			PCDHGA5	-	superfamily_Cadherin-like		0.622	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	C	NM_018918		140745607	1	no_errors	ENST00000518069	ensembl	human	known	70_37	silent	SNP	0.437	T	T	140745607	C	T	140745607	2	4	123	1	0	0	0	0	0	0	0	1	11581	535	19	2		2	PCDHGA5	5	140745607	Silent	SNP	C	TCGA-EX-A449-01A-11D-A243-09		140745607	40169653	10	19346										
GSTA4	2941	genome.wustl.edu	37	chr6	52852197	52852197	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ttcttttgtttccagaaattCttcatcaaactaaattttta	2	7	4	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr6:52852197C>A	ENST00000370959.1	-	3	214	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	GSTA4_ENST00000541324.1_Intron|GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	33	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCAGAAATTCTTCATCAAAC	0.313																																																	0													161	164	163					6																	52852197		2203	4300	6503	SO:0001587	stop_gained	2941			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.97G>T	6.37:g.52852197C>A	ENSP00000359998:p.Glu33*		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Nonsense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E33*	ENST00000370959.1	37	c.97	CCDS4948.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.865502	0.97043	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	.	.	.	5.5	4.62	0.57501	.	0.408106	0.27266	N	0.020150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7925	11.166	0.48543	0.0:0.8639:0.0:0.1361	.	.	.	.	X	33	.	ENSP00000359998:E33X	E	-	1	0	GSTA4	52960156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.897000	0.28390	2.731000	0.93534	0.555000	0.69702	GAA	GSTA4	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.313	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA4	HGNC	protein_coding	OTTHUMT00000040946.1	C	NM_001512		52852197	-1	no_errors	ENST00000370959	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	52852197	C	A	52852197	4	1	123	1	0	0	0	0	0	1	0	0	6853	922	32	3	591	3	GSTA4	6	52852197	Nonsense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09		52852197	118262870	11	19347										
BAI3	577	genome.wustl.edu	37	chr6	70070851	70070851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	tgatgatgaagaagaaaaggGaacaaaccctgaagggctaa	12	5	0	6			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr6:70070851G>T	ENST00000370598.1	+	29	4507	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	BAI3_ENST00000238918.8_Missense_Mutation_p.G435V|BAI3_ENST00000546190.1_Missense_Mutation_p.G193V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1229					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAGAAAAGGGAACAAACCCT	0.428																																																	0													91	84	86					6																	70070851		2203	4299	6502	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3686G>T	6.37:g.70070851G>T	ENSP00000359630:p.Gly1229Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1229V	ENST00000370598.1	37	c.3686	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417436	0.04766	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.42131	2.12;2.74;0.98	5.61	4.7	0.59300	.	0.323970	0.33199	N	0.005178	T	0.12475	0.0303	N	0.14661	0.345	0.46542	D	0.99909	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.06698	-1.0812	10	0.18710	T	0.47	.	12.7717	0.57426	0.0:0.1757:0.7165:0.1078	.	435;1229	B7Z356;O60242	.;BAI3_HUMAN	V	1229;435;193	ENSP00000359630:G1229V;ENSP00000238918:G435V;ENSP00000441821:G193V	ENSP00000238918:G435V	G	+	2	0	BAI3	70127572	1.000000	0.71417	0.962000	0.40283	0.688000	0.40055	1.900000	0.39828	2.632000	0.89209	0.591000	0.81541	GGA	BAI3	-	NULL		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70070851	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	0.306	T	T	70070851	G	T	70070851	3	4	123	1	0	0	0	0	1	0	0	0	1301	1174	41	3	3792	3	BAI3	6	70070851	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09	17218654	70070851	101044216	12	19348										
USP42	84132	genome.wustl.edu	37	chr7	6189655	6189655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	tgctggtgccctatggcgccGagtcctctgaggactctgac	13	13	2	2			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr7:6189655G>A	ENST00000306177.5	+	13	1986	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	610					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.E738K(1)|p.E610K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CTATGGCGCCGAGTCCTCTGA	0.567																																																	2	Substitution - Missense(2)	endometrium(2)											31	36	34					7																	6189655		2001	4177	6178	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1828G>A	7.37:g.6189655G>A	ENSP00000301962:p.Glu610Lys		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E610K	ENST00000306177.5	37	c.1828	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.241804	0.95272	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.21734	1.99;2.4	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.38772	0.1053	L	0.34521	1.04	0.51012	D	0.999903	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.79784	0.985;0.993;0.985;0.912	T	0.03287	-1.1052	10	0.46703	T	0.11	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	573;610;610;610	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	K	610;456	ENSP00000301962:E610K;ENSP00000408217:E456K	ENSP00000301962:E610K	E	+	1	0	USP42	6156181	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	8.421000	0.90259	2.761000	0.94854	0.591000	0.81541	GAG	USP42	-	NULL		0.567	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	G	XM_166526		6189655	1	no_errors	ENST00000306177	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6189655	G	A	6189655	3	1	123	1	0	0	0	0	1	0	0	0	17104	1059	37	1	1874	1	USP42	7	6189655	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		6189655	152949008	13	19349										
RAC1	5879	genome.wustl.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	13	2	0			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																																	2	Substitution - Missense(2)	endometrium(2)											133	110	118					7																	6441974		2203	4300	6503	SO:0001583	missense	5879			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A178V	ENST00000348035.4	37	c.533	CCDS5348.1	7	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG	RAC1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	HGNC	protein_coding	OTTHUMT00000242868.2	C	NM_018890		6441974	1	no_errors	ENST00000356142	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6441974	C	T	6441974	3	4	123	1	0	0	0	0	1	0	0	0	13004	768	27	2	559	2	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09	252319	6441974	152696689	14	19350										
REEP4	80346	genome.wustl.edu	37	chr8	21996983	21996983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	atgttgaggccccgcttcccGaagctgagcacggtctcgta	12	13	1	2	rs531148000		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr8:21996983G>T	ENST00000306306.3	-	5	831	c.363C>A	c.(361-363)ttC>ttA	p.F121L	REEP4_ENST00000334530.5_Missense_Mutation_p.F121L|REEP4_ENST00000523293.1_Missense_Mutation_p.F121L	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	121					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CCCGCTTCCCGAAGCTGAGCA	0.662																																																	0													71	59	63					8																	21996983		2203	4300	6503	SO:0001583	missense	80346			BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"Receptor accessory proteins"	26176	protein-coding gene	gene with protein product		609349	"chromosome 8 open reading frame 20"	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.363C>A	8.37:g.21996983G>T	ENSP00000303482:p.Phe121Leu		D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.F121L	ENST00000306306.3	37	c.363	CCDS6024.1	8	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779980	0.31502	.	.	ENSG00000168476	ENST00000334530;ENST00000306306;ENST00000523293;ENST00000518664	D;D;D;D	0.87334	-2.15;-1.73;-2.24;-2.19	4.38	-2.34	0.06704	.	0.113059	0.38326	N	0.001732	T	0.71169	0.3308	L	0.29908	0.895	0.34148	D	0.667187	B;B;P	0.43412	0.05;0.008;0.806	B;B;B	0.36922	0.042;0.054;0.236	T	0.73525	-0.3955	10	0.07813	T	0.8	0.0096	9.5214	0.39138	0.5052:0.0:0.4948:0.0	.	121;121;121	B4DYB6;Q9H6H4-2;Q9H6H4	.;.;REEP4_HUMAN	L	121	ENSP00000333889:F121L;ENSP00000303482:F121L;ENSP00000428709:F121L;ENSP00000428160:F121L	ENSP00000303482:F121L	F	-	3	2	REEP4	22052928	0.019000	0.18553	0.992000	0.48379	0.750000	0.42670	-0.593000	0.05740	-0.504000	0.06577	-0.367000	0.07326	TTC	REEP4	-	NULL		0.662	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP4	HGNC	protein_coding	OTTHUMT00000254337.2	G	NM_025232		21996983	-1	no_errors	ENST00000306306	ensembl	human	known	70_37	missense	SNP	0.998	T	T	21996983	G	T	21996983	3	4	123	1	0	0	0	0	1	0	0	0	13237	1049	37	3	426	3	REEP4	8	21996983	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		21996983	124367039	15	19351										
CHD7	55636	genome.wustl.edu	37	chr8	61735064	61735064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ttcattttcctcctaaaggcGaaactgcattttagcagatg	7	9	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr8:61735064G>A	ENST00000423902.2	+	12	3439	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.R987Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	987	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTAAAGGCGAAACTGCATT	0.343																																																	0													63	63	63					8																	61735064		1835	4086	5921	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2960G>A	8.37:g.61735064G>A	ENSP00000392028:p.Arg987Gln		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R987Q	ENST00000423902.2	37	c.2960	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022274	0.54683	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93488	-3.23;-3.23	5.32	5.32	0.75619	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.88883	0.6558	N	0.20766	0.605	0.80722	D	1	B;B	0.27951	0.031;0.195	B;B	0.32342	0.008;0.144	D	0.84979	0.0887	10	0.21014	T	0.42	-9.2	19.3617	0.94442	0.0:0.0:1.0:0.0	.	987;987	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	Q	987	ENSP00000392028:R987Q;ENSP00000436027:R987Q	ENSP00000307304:R987Q	R	+	2	0	CHD7	61897618	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.786000	0.75094	2.646000	0.89796	0.655000	0.94253	CGA	CHD7	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.343	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61735064	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61735064	G	A	61735064	3	1	123	1	0	0	0	0	1	0	0	0	3335	1058	37	1	3002	1	CHD7	8	61735064	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09	39738081	61735064	84628958	16	19352										
PPP3R2	116443	genome.wustl.edu	37	chr9	104356772	104356772	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	tcaaaggatatcttcccatcGccatccttgtccaggatgat	7	12	2	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr9:104356772G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.G147G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCTTCCCATCGCCATCCTTGT	0.512																																																	0													128	109	115					9																	104356772		2203	4300	6503	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15130C>T	9.37:g.104356772G>A			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin,prints_Parvalbumin	p.G147	ENST00000361820.3	37	c.441	CCDS6758.1	9																																																																																			PPP3R2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin		0.512	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	G			104356772	-1	no_errors	ENST00000374806	ensembl	human	known	70_37	silent	SNP	0.678	A	A	104356772	G	A	104356772	1	1	123	0	1	0	0	0	0	0	0	0	12428	1074	38	2		2	PPP3R2	9	104356772	Intron	SNP	G	TCGA-EX-A449-01A-11D-A243-09		104356772	36856659	17	19353										
LRIT1	26103	genome.wustl.edu	37	chr10	86001174	86001174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cgcaagggccaagagccagaGcatgcctaatgccaccctca	10	15	1	2			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr10:86001174G>T	ENST00000372105.3	-	1	43	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	8						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AAGAGCCAGAGCATGCCTAAT	0.677																																																	0													17	18	18					10																	86001174		2198	4297	6495	SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.22C>A	10.37:g.86001174G>T	ENSP00000361177:p.Leu8Ile		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L8I	ENST00000372105.3	37	c.22	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474007	0.63737	.	.	ENSG00000148602	ENST00000372105	T	0.41400	1.0	4.46	3.53	0.40419	.	0.323980	0.29034	N	0.013343	T	0.39226	0.1070	M	0.77486	2.375	0.35115	D	0.766463	P	0.43024	0.798	B	0.39465	0.3	T	0.55897	-0.8068	10	0.49607	T	0.09	.	5.0193	0.14352	0.1859:0.1805:0.6336:0.0	.	8	Q9P2V4	LRIT1_HUMAN	I	8	ENSP00000361177:L8I	ENSP00000361177:L8I	L	-	1	0	LRIT1	85991154	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.741000	0.38238	2.298000	0.77334	0.491000	0.48974	CTC	LRIT1	-	NULL		0.677	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	G	NM_015613		86001174	-1	no_errors	ENST00000372105	ensembl	human	known	70_37	missense	SNP	0.992	T	T	86001174	G	T	86001174	3	4	123	1	0	0	0	0	1	0	0	0	8970	971	34	4	1865	4	LRIT1	10	86001174	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		86001174	49533573	18	19354										
ABCC2	1244	genome.wustl.edu	37	chr10	101577118	101577118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	attcagaatggcaccataaaGgacaacatcctttttggaac	7	9	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr10:101577118G>A	ENST00000370449.4	+	17	2261	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	716	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCACCATAAAGGACAACATCC	0.488																																																	0													92	79	83					10																	101577118		2203	4300	6503	SO:0001819	synonymous_variant	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2148G>A	10.37:g.101577118G>A			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.K716	ENST00000370449.4	37	c.2148	CCDS7484.1	10																																																																																			ABCC2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.488	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	G	NM_000392		101577118	1	no_errors	ENST00000370449	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101577118	G	A	101577118	2	1	123	1	0	0	0	0	0	0	0	1	53	991	35	4		4	ABCC2	10	101577118	Silent	SNP	G	TCGA-EX-A449-01A-11D-A243-09	15575944	101577118	33957629	19	19355										
CTNND1	1500	genome.wustl.edu	37	chr11	57576862	57576862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	acactatcaacgaggttatcGctgagaacttggaggctgcc	11	10	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr11:57576862G>A	ENST00000399050.4	+	15	2895	c.2359G>A	c.(2359-2361)Gct>Act	p.A787T	CTNND1_ENST00000532245.1_Missense_Mutation_p.A680T|CTNND1_ENST00000530094.1_Missense_Mutation_p.A680T|CTNND1_ENST00000529526.1_Missense_Mutation_p.A727T|CTNND1_ENST00000529919.1_Missense_Mutation_p.A787T|CTNND1_ENST00000428599.2_Missense_Mutation_p.A781T|CTNND1_ENST00000526357.1_Missense_Mutation_p.A727T|CTNND1_ENST00000529986.1_Missense_Mutation_p.A680T|CTNND1_ENST00000360682.6_Missense_Mutation_p.A787T|CTNND1_ENST00000361332.4_Missense_Mutation_p.A781T|CTNND1_ENST00000532649.1_Missense_Mutation_p.A727T|CTNND1_ENST00000531014.1_Missense_Mutation_p.A458T|CTNND1_ENST00000533667.1_Missense_Mutation_p.A458T|CTNND1_ENST00000526772.1_Missense_Mutation_p.A458T|CTNND1_ENST00000415361.2_Missense_Mutation_p.A686T|CTNND1_ENST00000529873.1_Missense_Mutation_p.A727T|CTNND1_ENST00000361391.6_Missense_Mutation_p.A781T|CTNND1_ENST00000524630.1_Missense_Mutation_p.A781T|CTNND1_ENST00000426142.2_Missense_Mutation_p.A680T|CTNND1_ENST00000526938.1_Missense_Mutation_p.A787T|CTNND1_ENST00000530748.1_Missense_Mutation_p.A733T|CTNND1_ENST00000527467.1_Missense_Mutation_p.A464T|CTNND1_ENST00000534579.1_Missense_Mutation_p.A727T|CTNND1_ENST00000532844.1_Missense_Mutation_p.A733T|CTNND1_ENST00000525902.1_Missense_Mutation_p.A464T|CTNND1_ENST00000358694.6_Missense_Mutation_p.A781T|CTNND1_ENST00000399039.4_Missense_Mutation_p.A787T|CTNND1_ENST00000528232.1_Missense_Mutation_p.A686T|CTNND1_ENST00000361796.4_Missense_Mutation_p.A781T|CTNND1_ENST00000532787.1_Missense_Mutation_p.A680T|CTNND1_ENST00000532463.1_Missense_Mutation_p.A680T|CTNND1_ENST00000528621.1_Missense_Mutation_p.A727T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	787					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CGAGGTTATCGCTGAGAACTT	0.438																																																	0													84	85	84					11																	57576862		1884	4100	5984	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2359G>A	11.37:g.57576862G>A	ENSP00000382004:p.Ala787Thr		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A787T	ENST00000399050.4	37	c.2359	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264622	0.23136	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.178093	0.49916	D	0.000132	T	0.13970	0.0338	N	0.01576	-0.805	0.30899	N	0.729512	P;P;B;P;B;P;B;P;B	0.35433	0.501;0.501;0.368;0.501;0.049;0.501;0.06;0.501;0.368	B;B;B;B;B;B;B;B;B	0.28465	0.038;0.062;0.041;0.09;0.01;0.09;0.016;0.062;0.017	T	0.15292	-1.0442	10	0.02654	T	1	-2.0232	14.3004	0.66346	0.0:0.0:0.8513:0.1486	.	787;781;787;680;727;727;781;787;787	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	781;787;787;787;781;727;680;787;781;781;680;680;781;680;458;727;727;733;781;464;686;458;458;727;464;733;727;680;686;680;727;787	ENSP00000436543:A781T;ENSP00000434808:A787T;ENSP00000381996:A787T;ENSP00000353902:A787T;ENSP00000354907:A781T;ENSP00000436323:A727T;ENSP00000409930:A680T;ENSP00000382004:A787T;ENSP00000354785:A781T;ENSP00000354823:A781T;ENSP00000432075:A680T;ENSP00000437156:A680T;ENSP00000351527:A781T;ENSP00000434949:A680T;ENSP00000437051:A458T;ENSP00000435379:A727T;ENSP00000432243:A727T;ENSP00000436744:A733T;ENSP00000413586:A781T;ENSP00000434900:A464T;ENSP00000435266:A686T;ENSP00000432623:A458T;ENSP00000433158:A458T;ENSP00000435494:A727T;ENSP00000434672:A464T;ENSP00000433276:A733T;ENSP00000433334:A727T;ENSP00000437327:A680T;ENSP00000403518:A686T;ENSP00000434017:A680T;ENSP00000435789:A727T;ENSP00000432041:A787T	ENSP00000351527:A781T	A	+	1	0	CTNND1	57333438	0.914000	0.31030	1.000000	0.80357	0.939000	0.58152	3.601000	0.54059	2.692000	0.91855	0.655000	0.94253	GCT	CTNND1	-	superfamily_ARM-type_fold		0.438	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	G	NM_001331		57576862	1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	0.857	A	A	57576862	G	A	57576862	3	1	123	1	0	0	0	0	1	0	0	0	4024	1087	38	2	2409	2	CTNND1	11	57576862	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		57576862	77429654	20	19356										
CCDC67	159989	genome.wustl.edu	37	chr11	93104221	93104221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cagaaacaggcacaaagttaCcaaactcaactaaatggtaa	6	9	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr11:93104221C>T	ENST00000298050.3	+	7	664	c.564C>T	c.(562-564)taC>taT	p.Y188Y		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	188					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAAAGTTACCAAACTCAAC	0.323																																																	0													51	48	49					11																	93104221		1821	4079	5900	SO:0001819	synonymous_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.564C>T	11.37:g.93104221C>T			Q8NEF1|Q96LL7	Silent	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.Y188	ENST00000298050.3	37	c.564	CCDS44707.1	11																																																																																			CCDC67	-	NULL		0.323	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		C	NM_181645		93104221	1	no_errors	ENST00000298050	ensembl	human	known	70_37	silent	SNP	1.000	T	T	93104221	C	T	93104221	2	4	123	1	0	0	0	0	0	0	0	1	2844	518	18	4		4	CCDC67	11	93104221	Silent	SNP	C	TCGA-EX-A449-01A-11D-A243-09	35527359	93104221	41902295	21	19357										
CACNA1C	775	genome.wustl.edu	37	chr12	2786273	2786273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	gtctcagatgatgaggtcacCgttggcaagttctacgccac	11	11	3	3			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr12:2786273C>T	ENST00000347598.4	+	42	4986	c.4986C>T	c.(4984-4986)acC>acT	p.T1662T	CACNA1C_ENST00000399644.1_Silent_p.T1614T|CACNA1C_ENST00000327702.7_Silent_p.T1614T|CACNA1C_ENST00000399634.1_Silent_p.T1614T|CACNA1C_ENST00000399655.1_Silent_p.T1614T|CACNA1C_ENST00000406454.3_Silent_p.T1614T|CACNA1C_ENST00000399591.1_Silent_p.T1622T|CACNA1C_ENST00000399649.1_Silent_p.T1620T|CACNA1C_ENST00000399621.1_Silent_p.T1633T|CACNA1C_ENST00000399601.1_Silent_p.T1614T|CACNA1C_ENST00000344100.3_Silent_p.T1655T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.T1614T|CACNA1C_ENST00000399637.1_Silent_p.T1633T|CACNA1C_ENST00000399603.1_Silent_p.T1614T|CACNA1C_ENST00000335762.5_Silent_p.T1639T|CACNA1C_ENST00000399597.1_Silent_p.T1614T|CACNA1C_ENST00000399629.1_Silent_p.T1631T|CACNA1C_ENST00000399606.1_Silent_p.T1634T|CACNA1C_ENST00000399638.1_Silent_p.T1642T|CACNA1C_ENST00000402845.3_Silent_p.T1633T|CACNA1C_ENST00000399617.1_Silent_p.T1614T|CACNA1C_ENST00000399595.1_Silent_p.T1622T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1662					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAGGTCACCGTTGGCAAGT	0.517																																																	0													36	37	37					12																	2786273		2051	4232	6283	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4986C>T	12.37:g.2786273C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T1614	ENST00000347598.4	37	c.4842	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_VDCC_a1su_IQ		0.517	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2786273	1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	0.623	T	T	2786273	C	T	2786273	2	4	123	1	0	0	0	0	0	0	0	1	2545	639	23	2		2	CACNA1C	12	2786273	Silent	SNP	C	TCGA-EX-A449-01A-11D-A243-09		2786273	131065622	22	19358										
SLITRK5	26050	genome.wustl.edu	37	chr13	88330416	88330416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	gccccccgagtgctgtctttGtagaacccaaccggaacgaa	10	14	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr13:88330416G>T	ENST00000325089.6	+	2	2992	c.2773G>T	c.(2773-2775)Gta>Tta	p.V925L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V684L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	925					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCTGTCTTTGTAGAACCCAA	0.537																																																	0													91	100	97					13																	88330416		2203	4298	6501	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2773G>T	13.37:g.88330416G>T	ENSP00000366283:p.Val925Leu		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V925L	ENST00000325089.6	37	c.2773	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228393	0.79576	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.62105	0.05;0.41	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.65015	0.2651	M	0.62723	1.935	0.58432	D	0.999998	P;P	0.45428	0.714;0.858	B;B	0.44108	0.113;0.441	T	0.64901	-0.6298	9	.	.	.	-5.8308	17.4922	0.87707	0.0:0.0:1.0:0.0	.	684;925	B4DSH5;O94991	.;SLIK5_HUMAN	L	925;684	ENSP00000366283:V925L;ENSP00000442244:V684L	.	V	+	1	0	SLITRK5	87128417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.620000	0.74224	2.724000	0.93272	0.561000	0.74099	GTA	SLITRK5	-	NULL		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88330416	1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88330416	G	T	88330416	3	4	123	1	0	0	0	0	1	0	0	0	14776	1377	48	4	2775	4	SLITRK5	13	88330416	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		88330416	26839462	23	19359										
OR4K15	81127	genome.wustl.edu	37	chr14	20444114	20444114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	agtttccatggcctatgaccGttatgttgctatatgcaaac	8	9	0	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr14:20444114G>A	ENST00000305051.5	+	1	512	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGTTATGTTGCT	0.463																																																	0													148	141	144					14																	20444114		2203	4299	6502	SO:0001583	missense	81127				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.437G>A	14.37:g.20444114G>A	ENSP00000304077:p.Arg146His		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R146H	ENST00000305051.5	37	c.437	CCDS32026.1	14	.	.	.	.	.	.	.	.	.	.	.	20.9	4.068382	0.76301	.	.	ENSG00000169488	ENST00000305051	T	0.77489	-1.1	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	D	0.82370	0.5022	M	0.91612	3.225	0.40575	D	0.981339	P	0.51933	0.949	B	0.43413	0.419	D	0.87883	0.2679	10	0.87932	D	0	.	13.1907	0.59709	0.0:0.0:1.0:0.0	.	146	Q8NH41	OR4KF_HUMAN	H	146	ENSP00000304077:R146H	ENSP00000304077:R146H	R	+	2	0	OR4K15	19513954	0.907000	0.30839	0.989000	0.46669	0.900000	0.52787	4.979000	0.63806	1.940000	0.56252	0.585000	0.79938	CGT	OR4K15	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K15	HGNC	protein_coding	OTTHUMT00000409883.1	G			20444114	1	no_errors	ENST00000305051	ensembl	human	known	70_37	missense	SNP	0.995	A	A	20444114	G	A	20444114	3	1	123	1	0	0	0	0	1	0	0	0	11094	1145	40	2	439	2	OR4K15	14	20444114	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		20444114	86905426	24	19360										
AKT1	207	genome.wustl.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589|rs121434592		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	102	Substitution - Missense(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)											130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.E17K	ENST00000554581.1	37	c.49	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	C	NM_005163		105246551	-1	no_errors	ENST00000349310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105246551	C	T	105246551	3	4	123	1	0	0	0	0	1	0	0	0	478	864	30	1	1441	1	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09	84802437	105246551	2102989	25	19361										
OCA2	4948	genome.wustl.edu	37	chr15	28263672	28263672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	gccaggtccacctgcagcagCgtggagtccacgtggctgct	14	14	0	0	rs143734809	byFrequency	TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr15:28263672C>T	ENST00000354638.3	-	7	833	c.678G>A	c.(676-678)acG>acA	p.T226T	OCA2_ENST00000353809.5_Silent_p.T226T|OCA2_ENST00000382996.2_Silent_p.T226T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	226					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTGCAGCAGCGTGGAGTCCA	0.652									Oculocutaneous Albinism				C|||	5	0.000998403	0.003	0.0014	5008	,	,		17008	0		0	False		,,,				2504	0																0								C		15,4391		0,15,2188	28	24	25		678	-3.9	0	15	dbSNP_134	25	0,8600		0,0,4300	no	coding-synonymous	OCA2	NM_000275.2		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		226/839	28263672	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.678G>A	15.37:g.28263672C>T			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.T226	ENST00000354638.3	37	c.678	CCDS10020.1	15																																																																																			OCA2	-	NULL		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	C	NM_000275		28263672	-1	no_errors	ENST00000354638	ensembl	human	known	70_37	silent	SNP	0.038	T	T	28263672	C	T	28263672	2	4	123	1	0	0	0	0	0	0	0	1	10839	755	27	2		2	OCA2	15	28263672	Silent	SNP	C	TCGA-EX-A449-01A-11D-A243-09		28263672	74267720	26	19362										
NDUFB10	4716	genome.wustl.edu	37	chr16	2011218	2011218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	caccggcagtaccgccgcgtGccagacatcactgagtgcaa	11	15	1	2			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr16:2011218G>T	ENST00000268668.6	+	2	312	c.195G>T	c.(193-195)gtG>gtT	p.V65V	NDUFB10_ENST00000543683.2_Silent_p.V65V|SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000569148.1_Silent_p.V65V|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	65					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						ACCGCCGCGTGCCAGACATCA	0.517																																																	0													153	116	128					16																	2011218		2199	4300	6499	SO:0001819	synonymous_variant	4716			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.195G>T	16.37:g.2011218G>T			Q96II6	Silent	SNP	pfam_NADH_UbQ_OxRdtase_su10	p.V65	ENST00000268668.6	37	c.195	CCDS10451.1	16																																																																																			NDUFB10	-	pfam_NADH_UbQ_OxRdtase_su10		0.517	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB10	HGNC	protein_coding	OTTHUMT00000250614.2	G	NM_004548		2011218	1	no_errors	ENST00000268668	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2011218	G	T	2011218	2	4	123	1	0	0	0	0	0	0	0	1	10303	1306	46	4		4	NDUFB10	16	2011218	Silent	SNP	G	TCGA-EX-A449-01A-11D-A243-09		2011218	88343535	27	19363										
MYH13	8735	genome.wustl.edu	37	chr17	10216514	10216514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ctgtgcgctgaatggcgtccGtctcgtatttggtcctccac	11	13	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr17:10216514G>A	ENST00000418404.3	-	29	4305	c.4142C>T	c.(4141-4143)aCg>aTg	p.T1381M	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1381M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1381					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATGGCGTCCGTCTCGTATTT	0.627																																																	0													168	157	161					17																	10216514		2203	4300	6503	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4142C>T	17.37:g.10216514G>A	ENSP00000404570:p.Thr1381Met		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1381M	ENST00000418404.3	37	c.4142	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355626	0.82243	.	.	ENSG00000006788	ENST00000252172	D	0.83075	-1.68	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.93762	0.8006	H	0.96208	3.785	0.47621	D	0.999474	D	0.71674	0.998	D	0.76575	0.988	D	0.95939	0.8945	9	0.87932	D	0	.	16.5699	0.84608	0.0:0.0:1.0:0.0	.	1381	Q9UKX3	MYH13_HUMAN	M	1381	ENSP00000252172:T1381M	ENSP00000252172:T1381M	T	-	2	0	MYH13	10157239	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.373000	0.73128	2.207000	0.71202	0.462000	0.41574	ACG	MYH13	-	pfam_Myosin_tail		0.627	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10216514	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10216514	G	A	10216514	3	1	123	1	0	0	0	0	1	0	0	0	10055	1145	40	2	1722	2	MYH13	17	10216514	Missense_Mutation	SNP	G	TCGA-EX-A449-01A-11D-A243-09		10216514	70978696	28	19364										
CACNB1	782	genome.wustl.edu	37	chr17	37343054	37343054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ccacccagacacctggagccGaggcggttctggcgcagctt	13	15	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr17:37343054G>A	ENST00000394303.3	-	5	750	c.543C>T	c.(541-543)ctC>ctT	p.L181L	CACNB1_ENST00000344140.5_Silent_p.L181L|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.L181L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	181					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGGAGCCGAGGCGGTTCT	0.637																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													57	56	56					17																	37343054		2203	4300	6503	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.543C>T	17.37:g.37343054G>A			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.L181	ENST00000394303.3	37	c.543	CCDS42311.1	17																																																																																			CACNB1	-	superfamily_SH3_domain,prints_VDCC_L_b1su		0.637	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	G			37343054	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37343054	G	A	37343054	2	1	123	1	0	0	0	0	0	0	0	1	2557	1045	37	1		1	CACNB1	17	37343054	Silent	SNP	G	TCGA-EX-A449-01A-11D-A243-09	27126540	37343054	43852156	29	19365										
DUS3L	56931	genome.wustl.edu	37	chr19	5788165	5788165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ccccgaagcgcttgcagatcCgtcggaagggcaggttccca	13	14	0	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:5788165C>T	ENST00000309061.7	-	5	1061	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	DUS3L_ENST00000320699.8_Missense_Mutation_p.R80Q|DUS3L_ENST00000590681.1_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTGCAGATCCGTCGGAAGGG	0.612																																																	0													47	48	48					19																	5788165		2203	4300	6503	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.965G>A	19.37:g.5788165C>T	ENSP00000311977:p.Arg322Gln		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.R322Q	ENST00000309061.7	37	c.965	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292601	0.80914	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.28666	1.6;1.6	3.78	3.78	0.43462	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000001	T	0.54143	0.1840	M	0.74389	2.26	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.60722	-0.7207	10	0.87932	D	0	-17.1384	13.1859	0.59680	0.0:1.0:0.0:0.0	.	80;322	Q96G46-3;Q96G46	.;DUS3L_HUMAN	Q	322;80	ENSP00000311977:R322Q;ENSP00000315558:R80Q	ENSP00000311977:R322Q	R	-	2	0	DUS3L	5739165	1.000000	0.71417	0.972000	0.41901	0.527000	0.34593	7.678000	0.84035	1.672000	0.50884	0.306000	0.20318	CGG	DUS3L	-	pfam_tRNA_hU_synthase		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5788165	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	missense	SNP	0.993	T	T	5788165	C	T	5788165	3	4	123	1	0	0	0	0	1	0	0	0	4817	652	23	2	1023	2	DUS3L	19	5788165	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09		5788165	53340818	30	19366										
SIN3B	23309	genome.wustl.edu	37	chr19	16989122	16989122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cgtggactgccgcttcaagcTcagcactcacaagatggtgt	11	12	3	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:16989122T>C	ENST00000248054.5	+	18	3104	c.3083T>C	c.(3082-3084)cTc>cCc	p.L1028P	SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000595541.1_Missense_Mutation_p.L618P|SIN3B_ENST00000379803.1_Missense_Mutation_p.L1060P					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCTTCAAGCTCAGCACTCAC	0.677																																																	0													29	23	25					19																	16989122		2202	4300	6502	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.3083T>C	19.37:g.16989122T>C	ENSP00000248054:p.Leu1028Pro			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.L1060P	ENST00000248054.5	37	c.3179		19	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567000	0.65651	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.77;0.76	4.92	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.43923	1.385	0.80722	D	1	D;B;D	0.89917	1.0;0.451;0.999	D;B;D	0.91635	0.999;0.276;0.984	T	0.47849	-0.9085	10	0.21014	T	0.42	-41.0547	10.2798	0.43532	0.0:0.0785:0.0:0.9215	.	618;1028;1060	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	P	1060;1028	ENSP00000369131:L1060P;ENSP00000248054:L1028P	ENSP00000248054:L1028P	L	+	2	0	SIN3B	16850122	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.829000	0.86735	0.738000	0.32606	0.459000	0.35465	CTC	SIN3B	-	NULL		0.677	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	T	NM_015260		16989122	1	no_errors	ENST00000379803	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16989122	T	C	16989122	3	2	123	1	0	0	0	0	1	0	0	0	14356	1551	54	5	3253	5	SIN3B	19	16989122	Missense_Mutation	SNP	T	TCGA-EX-A449-01A-11D-A243-09	11200957	16989122	42139861	31	19367										
KIR2DL1	3811	genome.wustl.edu	37	chr19	55284906	55284906	+	Intron	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	ttccttctgcacagagagggGatgtttaacgacactttgcg	11	9	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:55284906G>C	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.G64G|KIR2DL1_ENST00000291633.7_Silent_p.G64G|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGAGAGGGGATGTTTAACG	0.532																																																	0													98	84	89					19																	55284906		2171	4179	6350	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44083G>C	19.37:g.55284906G>C			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G64	ENST00000538269.1	37	c.192		19																																																																																			KIR2DL1	-	pfam_Immunoglobulin,smart_Ig_sub		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		G	NM_013289		55284906	1	no_errors	ENST00000336077	ensembl	human	known	70_37	silent	SNP	0.003	C	C	55284906	G	C	55284906	1	2	123	0	1	0	0	0	0	0	0	0	8336	1161	41	1		1	KIR2DL1	19	55284906	Intron	SNP	G	TCGA-EX-A449-01A-11D-A243-09	38295784	55284906	3844077	32	19368										
ZNF71	58491	genome.wustl.edu	37	chr19	57132752	57132752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	cgaggaatggtgccaggggtCctggctcagaaggagtgtgg	19	7	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:57132752C>T	ENST00000328070.6	+	3	331	c.97C>T	c.(97-99)Cct>Tct	p.P33S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCCAGGGGTCCTGGCTCAGA	0.587																																																	0													36	38	38					19																	57132752		2203	4300	6503	SO:0001583	missense	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.97C>T	19.37:g.57132752C>T	ENSP00000328245:p.Pro33Ser		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P33S	ENST00000328070.6	37	c.97	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420306	0.01136	.	.	ENSG00000197951	ENST00000328070	T	0.06142	3.34	2.52	-3.0	0.05480	.	.	.	.	.	T	0.02807	0.0084	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.05351	T	0.99	.	3.1896	0.06613	0.404:0.4052:0.0:0.1908	.	33	Q9NQZ8	ZNF71_HUMAN	S	33	ENSP00000328245:P33S	ENSP00000328245:P33S	P	+	1	0	ZNF71	61824564	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.481000	0.02323	-0.655000	0.05387	0.561000	0.74099	CCT	ZNF71	-	NULL		0.587	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57132752	1	no_errors	ENST00000328070	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57132752	C	T	57132752	3	4	123	1	0	0	0	0	1	0	0	0	18144	855	30	1	99	1	ZNF71	19	57132752	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09	1847846	57132752	1996231	33	19369										
P2RX6	9127	genome.wustl.edu	37	chr22	21369471	21369471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	gccatgctgactcatgtgccCgcagctagcaggagctggca	13	13	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr22:21369471C>T	ENST00000413302.2	+	1	156	c.8C>T	c.(7-9)cCg>cTg	p.P3L	P2RX6_ENST00000401443.1_Missense_Mutation_p.P3L|P2RX6_ENST00000402329.3_5'UTR|P2RX6_ENST00000591411.1_Intron|P2RX6_ENST00000443995.3_5'Flank|P2RX6_ENST00000336296.2_5'UTR|TUBA3FP_ENST00000422086.1_RNA			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	3					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CTCATGTGCCCGCAGCTAGCA	0.607																																																	0													24	30	28					22																	21369471		2203	4300	6503	SO:0001583	missense	9127				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.8C>T	22.37:g.21369471C>T	ENSP00000416193:p.Pro3Leu		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.P3L	ENST00000413302.2	37	c.8	CCDS13788.2	22	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.627019	0.00813	.	.	ENSG00000099957	ENST00000413302;ENST00000401443	T;T	0.11169	3.42;2.8	4.15	-8.3	0.01005	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.21579	N	0.99963	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32613	-0.9900	9	0.02654	T	1	.	2.9293	0.05794	0.1214:0.2559:0.3832:0.2395	.	3;3	O15547;F6V3D7	P2RX6_HUMAN;.	L	3	ENSP00000416193:P3L;ENSP00000385309:P3L	ENSP00000385309:P3L	P	+	2	0	P2RX6	19699471	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.638000	0.05452	-3.586000	0.00136	-1.943000	0.00494	CCG	P2RX6	-	NULL		0.607	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	C	NM_005446		21369471	1	no_errors	ENST00000413302	ensembl	human	known	70_37	missense	SNP	0.000	T	T	21369471	C	T	21369471	3	4	123	1	0	0	0	0	1	0	0	0	11368	652	23	2	10	2	P2RX6	22	21369471	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09		21369471	29935095	34	19370										
PPEF1	5475	genome.wustl.edu	37	chrX	18800495	18800495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	tttttttaggtatggcttcaCgaaagaaattttgcataaat	7	4	1	1			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chrX:18800495C>T	ENST00000361511.4	+	11	1231	c.737C>T	c.(736-738)aCg>aTg	p.T246M	PPEF1_ENST00000543630.1_Missense_Mutation_p.T246M|PPEF1_ENST00000359763.6_Missense_Mutation_p.T193M|PPEF1_ENST00000544635.1_Missense_Mutation_p.T181M|PPEF1_ENST00000349874.5_Missense_Mutation_p.T246M	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	246	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATGGCTTCACGAAAGAAATT	0.313																																																	0													91	84	86					X																	18800495		2201	4298	6499	SO:0001583	missense	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.737C>T	X.37:g.18800495C>T	ENSP00000354871:p.Thr246Met		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.T246M	ENST00000361511.4	37	c.737	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855000	0.71719	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	4.93	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.56097	D	0.000031	T	0.23054	0.0557	M	0.69185	2.1	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00754	-1.1580	10	0.35671	T	0.21	-17.4786	16.4211	0.83759	0.0:1.0:0.0:0.0	.	246;246;246	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	M	246;193;246;246;181	ENSP00000354871:T246M;ENSP00000352806:T193M;ENSP00000341892:T246M;ENSP00000437785:T246M;ENSP00000441289:T181M	ENSP00000341892:T246M	T	+	2	0	PPEF1	18710416	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.323000	0.65858	2.163000	0.67991	0.600000	0.82982	ACG	PPEF1	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase		0.313	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	C	NM_006240		18800495	1	no_errors	ENST00000361511	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18800495	C	T	18800495	3	4	123	1	0	0	0	0	1	0	0	0	12331	536	19	2	767	2	PPEF1	23	18800495	Missense_Mutation	SNP	C	TCGA-EX-A449-01A-11D-A243-09		18800495	136470065	35	19371										
FAM47B	170062	genome.wustl.edu	37	chrX	34961911	34961911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.341346153846154	0	0.355	1	1	0	caggtgtccagtctctgcccGgagcctcccgaggctggagt	14	14	1	0			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chrX:34961911G>A	ENST00000329357.5	+	1	999	c.963G>A	c.(961-963)ccG>ccA	p.P321P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	321	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTCCCG	0.592																																																	0													55	53	54					X																	34961911		2202	4300	6502	SO:0001819	synonymous_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.963G>A	X.37:g.34961911G>A			Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.P321	ENST00000329357.5	37	c.963	CCDS14236.1	X																																																																																			FAM47B	-	NULL		0.592	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	G	NM_152631		34961911	1	no_errors	ENST00000329357	ensembl	human	known	70_37	silent	SNP	0.998	A	A	34961911	G	A	34961911	2	1	123	1	0	0	0	0	0	0	0	1	5588	1103	39	2		2	FAM47B	23	34961911	Silent	SNP	G	TCGA-EX-A449-01A-11D-A243-09	16161416	34961911	120308649	36	19372										
TAS1R2	80834	genome.wustl.edu	37	chr1	19181144	19181144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ggtcaggtcgggcgagaacaCgaccacgacgcgcgctgtgc	16	13	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:19181144C>T	ENST00000375371.3	-	3	841	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	274					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.V274M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCGAGAACACGACCACGACG	0.627																																																	1	Substitution - Missense(1)	lung(1)											70	61	64					1																	19181144		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.820G>A	1.37:g.19181144C>T	ENSP00000364520:p.Val274Met		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.V274M	ENST00000375371.3	37	c.820	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830089	0.50845	.	.	ENSG00000179002	ENST00000375371	D	0.83755	-1.76	4.99	-3.83	0.04269	Extracellular ligand-binding receptor (1);	0.856575	0.09782	N	0.756542	D	0.86957	0.6058	M	0.81682	2.555	0.19300	N	0.999979	D	0.69078	0.997	P	0.58130	0.833	T	0.80336	-0.1425	10	0.87932	D	0	.	8.5563	0.33483	0.0:0.3452:0.4546:0.2002	.	274	Q8TE23	TS1R2_HUMAN	M	274	ENSP00000364520:V274M	ENSP00000364520:V274M	V	-	1	0	TAS1R2	19053731	0.117000	0.22190	0.000000	0.03702	0.349000	0.29174	0.675000	0.25232	-0.997000	0.03450	0.561000	0.74099	GTG	TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	C			19181144	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.087	T	T	19181144	C	T	19181144	3	4	124	1	0	0	0	0	1	0	0	0	15593	536	19	2	1715	2	TAS1R2	1	19181144	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		19181144	230069477	1	19373										
NBL1	4681	genome.wustl.edu	37	chr1	19981629	19981629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cagataagagtgcctggtgcGaagccaagaacatcacccag	11	11	1	3			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:19981629G>A	ENST00000375136.3	+	2	409	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	NBL1_ENST00000548815.1_Missense_Mutation_p.E35K|NBL1_ENST00000289749.2_Missense_Mutation_p.E71K|MINOS1-NBL1_ENST00000602662.1_Missense_Mutation_p.E36K	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	36	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGGTGCGAAGCCAAGAA	0.632																																																	0													44	35	38					1																	19981629		2203	4300	6503	SO:0001583	missense	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.106G>A	1.37:g.19981629G>A	ENSP00000364278:p.Glu36Lys		A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.E71K	ENST00000375136.3	37	c.211	CCDS196.2	1	.	.	.	.	.	.	.	.	.	.	g	16.67	3.187078	0.57909	.	.	ENSG00000158747	ENST00000428975;ENST00000289749;ENST00000451758;ENST00000439664;ENST00000375136;ENST00000548815;ENST00000425400;ENST00000439278;ENST00000427894	T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.14	4.14	0.48551	DAN (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	N	0.11201	0.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.991	T	0.22836	-1.0205	9	.	.	.	-12.7249	15.5288	0.75936	0.0:0.0:1.0:0.0	.	35;71	P41271;P41271-2	NBL1_HUMAN;.	K	36;71;36;36;36;35;36;70;35	ENSP00000412419:E36K;ENSP00000289749:E71K;ENSP00000390607:E36K;ENSP00000399333:E36K;ENSP00000364278:E36K;ENSP00000449007:E35K;ENSP00000400250:E36K;ENSP00000391858:E70K;ENSP00000394079:E35K	.	E	+	1	0	NBL1	19854216	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	7.182000	0.77689	2.292000	0.77174	0.457000	0.33378	GAA	NBL1	-	pfam_DAN,pfam_Cys_knot		0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	G	NM_005380		19981629	1	no_errors	ENST00000289749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19981629	G	A	19981629	3	1	124	1	0	0	0	0	1	0	0	0	10213	1059	37	1	217	1	NBL1	1	19981629	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	800485	19981629	229268992	2	19374										
GJA4	2701	genome.wustl.edu	37	chr1	35260438	35260438	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cgccccacggagaagaccatCttcatcatcttcatgttggt	8	13	5	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:35260438C>T	ENST00000342280.4	+	2	712	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	208					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGACCATCTTCATCATCT	0.602																																																	0													110	98	102					1																	35260438		2203	4300	6503	SO:0001819	synonymous_variant	2701			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.624C>T	1.37:g.35260438C>T			A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37	p.I208	ENST00000342280.4	37	c.624	CCDS30669.1	1																																																																																			GJA4	-	pfam_Connexin_CCC,prints_Connexin		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJA4	HGNC	protein_coding	OTTHUMT00000011556.1	C	NM_002060		35260438	1	no_errors	ENST00000342280	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35260438	C	T	35260438	2	4	124	1	0	0	0	0	0	0	0	1	6422	903	32	1		1	GJA4	1	35260438	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	15278809	35260438	213990183	3	19375										
C1orf173	127254	genome.wustl.edu	37	chr1	75038598	75038598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	acagccaccccaccctcagcCtctccctcctccgatgtcgc	5	23	2	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:75038598C>T	ENST00000326665.5	-	14	3014	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		932	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACCCTCAGCCTCTCCCTCCT	0.542																																																	0													132	135	134					1																	75038598		2203	4300	6503	SO:0001819	synonymous_variant	127254																														ENST00000326665.5:c.2796G>A	1.37:g.75038598C>T			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.E932	ENST00000326665.5	37	c.2796	CCDS30755.1	1																																																																																			C1orf173	-	NULL		0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75038598	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	silent	SNP	0.000	T	T	75038598	C	T	75038598	2	4	124	1	0	0	0	0	0	0	0	1	2019	680	24	4		4	C1orf173	1	75038598	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	39778160	75038598	174212023	4	19376										
SLC41A1	254428	genome.wustl.edu	37	chr1	205764045	205764045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gatgatgaagatgagtgtgaGggtggtgtgcccgccctgca	17	7	0	5			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:205764045G>T	ENST00000367137.3	-	10	2323	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	437					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATGAGTGTGAGGGTGGTGTGC	0.582																																																	0													100	89	92					1																	205764045		2203	4300	6503	SO:0001583	missense	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1309C>A	1.37:g.205764045G>T	ENSP00000356105:p.Leu437Ile		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr	p.L437I	ENST00000367137.3	37	c.1309	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702321	0.68501	.	.	ENSG00000133065	ENST00000367137	T	0.33865	1.39	5.71	5.71	0.89125	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	N	0.16130	0.375	0.80722	D	1	B	0.29508	0.246	B	0.37091	0.241	T	0.07868	-1.0750	10	0.18710	T	0.47	-1.1526	19.4413	0.94821	0.0:0.0:1.0:0.0	.	437	Q8IVJ1	S41A1_HUMAN	I	437	ENSP00000356105:L437I	ENSP00000356105:L437I	L	-	1	0	SLC41A1	204030668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.943000	0.87716	2.704000	0.92352	0.655000	0.94253	CTC	SLC41A1	-	pfam_MgtE_Mg_transptr_membr		0.582	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	G			205764045	-1	no_errors	ENST00000367137	ensembl	human	known	70_37	missense	SNP	1.000	T	T	205764045	G	T	205764045	3	4	124	1	0	0	0	0	1	0	0	0	14659	1000	35	4	240	4	SLC41A1	1	205764045	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	130725447	205764045	43486576	5	19377										
USH2A	7399	genome.wustl.edu	37	chr1	216138814	216138814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gaggagcttctagagttcgaTtttccacctgtgagtataaa	10	7	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:216138814T>C	ENST00000307340.3	-	37	7351	c.6965A>G	c.(6964-6966)aAt>aGt	p.N2322S	USH2A_ENST00000366943.2_Missense_Mutation_p.N2322S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2322	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGAGTTCGATTTTCCACCTG	0.398										HNSCC(13;0.011)																																							0													102	103	102					1																	216138814		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6965A>G	1.37:g.216138814T>C	ENSP00000305941:p.Asn2322Ser		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N2322S	ENST00000307340.3	37	c.6965	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328482	0.24167	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.56	5.56	0.83823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.295265	0.24195	N	0.040677	T	0.28797	0.0714	N	0.13098	0.295	0.24176	N	0.995607	D	0.53151	0.958	B	0.40825	0.341	T	0.13072	-1.0523	10	0.21014	T	0.42	.	11.5237	0.50567	0.0:0.0:0.2669:0.7331	.	2322	O75445	USH2A_HUMAN	S	2322	ENSP00000305941:N2322S;ENSP00000355910:N2322S	ENSP00000305941:N2322S	N	-	2	0	USH2A	214205437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.005000	0.40864	2.241000	0.73720	0.533000	0.62120	AAT	USH2A	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216138814	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	C	C	216138814	T	C	216138814	3	2	124	1	0	0	0	0	1	0	0	0	17067	1493	52	5	8787	5	USH2A	1	216138814	Missense_Mutation	SNP	T	TCGA-EX-A69L-01A-11D-A32I-09	10374769	216138814	33111807	6	19378										
TAF5L	27097	genome.wustl.edu	37	chr1	229730463	229730463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctgctgagcgctccacagccGgacggtcttgtcggttgagc	14	13	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:229730463G>C	ENST00000366676.1	-	4	1350	c.1351C>G	c.(1351-1353)Cgg>Ggg	p.R451G	TAF5L_ENST00000258281.2_Missense_Mutation_p.R451G			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	451					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTCCACAGCCGGACGGTCTTG	0.572																																																	0													85	88	87					1																	229730463		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1351C>G	1.37:g.229730463G>C	ENSP00000355636:p.Arg451Gly		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R451G	ENST00000366676.1	37	c.1351	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204929	0.38905	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.67865	-0.29;-0.29	5.97	3.07	0.35406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.87038	2.855	0.58432	D	0.999998	D	0.56287	0.975	P	0.60682	0.878	T	0.77448	-0.2584	10	0.72032	D	0.01	-25.7391	7.042	0.25025	0.1306:0.0:0.6217:0.2478	.	451	O75529	TAF5L_HUMAN	G	451	ENSP00000355636:R451G;ENSP00000258281:R451G	ENSP00000258281:R451G	R	-	1	2	TAF5L	227797086	1.000000	0.71417	0.442000	0.26870	0.171000	0.22731	3.243000	0.51392	0.402000	0.25451	0.655000	0.94253	CGG	TAF5L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.572	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	G	NM_014409		229730463	-1	no_errors	ENST00000258281	ensembl	human	known	70_37	missense	SNP	0.963	C	C	229730463	G	C	229730463	3	2	124	1	0	0	0	0	1	0	0	0	15559	1115	39	2	422	2	TAF5L	1	229730463	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	13591649	229730463	19520158	7	19379										
ACP1	52	genome.wustl.edu	37	chr2	272070	272070	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gcgcggcaacttccgggtatGagatagggaacccccctgac	13	13	0	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr2:272070G>C	ENST00000272065.5	+	3	244	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	ACP1_ENST00000439645.2_Intron|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000407983.3_Missense_Mutation_p.E51Q	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	51						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TTCCGGGTATGAGATAGGGAA	0.532																																																	0													99	95	97					2																	272070		2203	4300	6503	SO:0001583	missense	52			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.151G>C	2.37:g.272070G>C	ENSP00000272065:p.Glu51Gln		A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.E51Q	ENST00000272065.5	37	c.151	CCDS1639.1	2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532576	0.64972	.	.	ENSG00000143727	ENST00000272065;ENST00000407983	T;T	0.47177	2.23;0.85	5.63	5.63	0.86233	Phosphotyrosine protein phosphatase I superfamily (3);	.	.	.	.	T	0.55337	0.1914	L	0.49455	1.56	0.80722	D	1	B;P	0.38223	0.231;0.623	B;P	0.46885	0.074;0.53	T	0.56323	-0.7998	9	0.72032	D	0.01	.	17.5236	0.87793	0.0:0.0:1.0:0.0	.	51;51	P24666;B5MCC7	PPAC_HUMAN;.	Q	51	ENSP00000272065:E51Q;ENSP00000385404:E51Q	ENSP00000272065:E51Q	E	+	1	0	ACP1	262070	1.000000	0.71417	0.797000	0.32132	0.985000	0.73830	9.394000	0.97261	2.797000	0.96272	0.655000	0.94253	GAG	ACP1	-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF		0.532	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	HGNC	protein_coding	OTTHUMT00000195862.3	G			272070	1	no_errors	ENST00000272065	ensembl	human	known	70_37	missense	SNP	1.000	C	C	272070	G	C	272070	3	2	124	1	0	0	0	0	1	0	0	0	162	1291	45	1	161	1	ACP1	2	272070	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		272070	242927303	8	19380										
CASP8	841	genome.wustl.edu	37	chr2	202137499	202137499	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	actatgaagaattcagcaaaGgtagaaacaacctgacagcc	8	9	1	4			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr2:202137499G>C	ENST00000432109.2	+	5	739	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	CASP8_ENST00000323492.7_Splice_Site_p.G184R|CASP8_ENST00000264275.5_Splice_Site_p.G216R|CASP8_ENST00000392259.2_Splice_Site_p.E184Q|CASP8_ENST00000392258.3_Splice_Site_p.E184Q|CASP8_ENST00000264274.9_Splice_Site_p.G184R|CASP8_ENST00000358485.4_Splice_Site_p.E243Q|CASP8_ENST00000392266.3_Splice_Site_p.D184H	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	184					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATTCAGCAAAGGTAGAAACAA	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													111	113	112					2																	202137499		2203	4300	6503	SO:0001630	splice_region_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.550+1G>C	2.37:g.202137499G>C			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E243Q	ENST00000432109.2	37	c.727	CCDS2342.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.04|11.04|11.04	1.522800|1.522800|1.522800	0.27211|0.27211|0.27211	.|.|.	.|.|.	ENSG00000064012|ENSG00000064012|ENSG00000064012	ENST00000392266;ENST00000447616;ENST00000424461|ENST00000392259;ENST00000432109;ENST00000392258;ENST00000358485;ENST00000413726|ENST00000392263;ENST00000264274;ENST00000264275;ENST00000450491;ENST00000392261;ENST00000323492;ENST00000444430	D;D;D|D;T;D;T;D|T;D;D;D;T;D	0.82619|0.82893|0.82711	-1.63;-1.63;-1.63|-1.66;4.36;-1.66;4.33;-1.66|4.37;-1.64;-1.64;-1.64;4.37;-1.64	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|DEATH-like (2);|.	.|1.422880|.	.|0.04149|.	.|N|.	.|0.321025|.	T|T|T	0.71970|0.71970|0.71970	0.3403|0.3403|0.3403	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.21627|0.21627|0.21627	N|N|N	0.999619|0.999619|0.999619	P|P;D;B;P|B;B;B;B	0.36315|0.54964|0.24882	0.547|0.933;0.969;0.105;0.744|0.023;0.007;0.005;0.113	B|P;P;B;B|B;B;B;B	0.31101|0.51385|0.28232	0.124|0.668;0.668;0.034;0.361|0.011;0.004;0.008;0.087	T|T|T	0.64888|0.64888|0.64888	-0.6301|-0.6301|-0.6301	9|10|9	0.48119|0.15066|0.52906	T|T|T	0.1|0.55|0.07	.|.|.	15.4272|15.4272|15.4272	0.75061|0.75061|0.75061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	184|184;243;184;184|184;184;184;216	Q14790-6|Q14790-7;Q14790-9;Q14790;Q14790-5|Q14790-3;A8MU92;Q14790-2;Q14790-4	.|.;.;CASP8_HUMAN;.|.;.;.;.	H|Q|R	184;184;47|184;184;184;243;184|184;184;216;81;184;184;47	ENSP00000376094:D184H;ENSP00000388306:D184H;ENSP00000390346:D47H|ENSP00000376088:E184Q;ENSP00000412523:E184Q;ENSP00000376087:E184Q;ENSP00000351273:E243Q;ENSP00000397528:E184Q|ENSP00000376091:G184R;ENSP00000264274:G184R;ENSP00000264275:G216R;ENSP00000391709:G81R;ENSP00000325722:G184R;ENSP00000394434:G47R	ENSP00000376094:D184H|ENSP00000351273:E243Q|ENSP00000264274:G184R	D|E|G	+|+|+	1|1|1	0|0|0	CASP8|CASP8|CASP8	201845744|201845744|201845744	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.990000|0.990000|0.990000	0.47175|0.47175|0.47175	0.032000|0.032000|0.032000	0.12392|0.12392|0.12392	4.065000|4.065000|4.065000	0.57513|0.57513|0.57513	2.714000|2.714000|2.714000	0.92807|0.92807|0.92807	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|GAG|GGG	CASP8	-	superfamily_DEATH-like		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	G	NM_001228	Missense_Mutation	202137499	1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	1.000	C	C	202137499	G	C	202137499	5	2	124	1	0	0	0	0	0	0	1	0	2682	1014	35	4	841	4	CASP8	2	202137499	Splice_Site	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	201865429	202137499	41061874	9	19381										
BSN	8927	genome.wustl.edu	37	chr3	49694574	49694574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctcgtgagcctgtgctgcacCggggtctccccagctctgcc	12	17	2	1	rs200351851		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr3:49694574C>T	ENST00000296452.4	+	5	7699	c.7585C>T	c.(7585-7587)Cgg>Tgg	p.R2529W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2529					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGTGCTGCACCGGGGTCTCCC	0.627																																																	0													43	42	43					3																	49694574		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7585C>T	3.37:g.49694574C>T	ENSP00000296452:p.Arg2529Trp		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R2529W	ENST00000296452.4	37	c.7585	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	7.087	0.571489	0.13623	.	.	ENSG00000164061	ENST00000296452	T	0.21932	1.98	5.58	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	L	0.55481	1.735	0.35868	D	0.828003	D	0.89917	1.0	D	0.67548	0.952	T	0.52953	-0.8506	10	0.87932	D	0	-21.0185	13.0839	0.59129	0.4578:0.5422:0.0:0.0	.	2529	Q9UPA5	BSN_HUMAN	W	2529	ENSP00000296452:R2529W	ENSP00000296452:R2529W	R	+	1	2	BSN	49669578	0.461000	0.25783	0.995000	0.50966	0.984000	0.73092	-0.008000	0.12788	1.307000	0.44944	0.561000	0.74099	CGG	BSN	-	NULL		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49694574	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.469	T	T	49694574	C	T	49694574	3	4	124	1	0	0	0	0	1	0	0	0	1533	643	23	2	7603	2	BSN	3	49694574	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		49694574	148327856	10	19382										
SMC4	10051	genome.wustl.edu	37	chr3	160142730	160142730	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	aagaacagaaagtacaacttGaagaaagagtagttaagtta	9	3	0	5			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr3:160142730G>A	ENST00000357388.3	+	16	2852	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.E801K|SMC4_ENST00000462787.1_Missense_Mutation_p.E801K|SMC4_ENST00000469762.1_Missense_Mutation_p.E776K|SMC4_ENST00000344722.5_Missense_Mutation_p.E801K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	801					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTACAACTTGAAGAAAGAGT	0.368																																																	0													111	99	103					3																	160142730		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2401G>A	3.37:g.160142730G>A	ENSP00000349961:p.Glu801Lys		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.E801K	ENST00000357388.3	37	c.2401	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.896725	0.97081	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.76186	-1.0;-1.0;-0.98;-1.0;-1.0	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.86178	2.8	0.80722	D	1	D;P;D;D	0.89917	1.0;0.95;0.999;0.999	D;P;D;D	0.83275	0.992;0.84;0.996;0.984	D	0.88063	0.2795	10	0.49607	T	0.09	-29.9133	19.9187	0.97077	0.0:0.0:1.0:0.0	.	801;776;776;801	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	K	801;801;776;801;801;395	ENSP00000349961:E801K;ENSP00000353225:E801K;ENSP00000417964:E776K;ENSP00000420734:E801K;ENSP00000341382:E801K	ENSP00000341382:E801K	E	+	1	0	SMC4	161625424	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.479000	0.90431	2.702000	0.92279	0.591000	0.81541	GAA	SMC4	-	pfam_RecF/RecN/SMC,superfamily_Chemotax_Me-accpt_rcpt_lig-bd		0.368	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160142730	1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160142730	G	A	160142730	3	1	124	1	0	0	0	0	1	0	0	0	14815	1291	45	1	2459	1	SMC4	3	160142730	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	110448156	160142730	37879700	11	19383										
GPR125	166647	genome.wustl.edu	37	chr4	22415240	22415240	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	aaacctattttggtgagaatCacaggggtaaccacagtacg	10	8	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr4:22415240C>T	ENST00000334304.5	-	13	2276	c.2007G>A	c.(2005-2007)gtG>gtA	p.V669V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	669					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGGTGAGAATCACAGGGGTAA	0.398																																																	0													116	109	111					4																	22415240		2203	4300	6503	SO:0001819	synonymous_variant	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2007G>A	4.37:g.22415240C>T			Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.V669	ENST00000334304.5	37	c.2007	CCDS33964.1	4																																																																																			GPR125	-	NULL		0.398	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	C			22415240	-1	no_errors	ENST00000334304	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22415240	C	T	22415240	2	4	124	1	0	0	0	0	0	0	0	1	6658	813	29	1		1	GPR125	4	22415240	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		22415240	168739036	12	19384										
PPID	5481	genome.wustl.edu	37	chr4	159634413	159634413	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cctttgaactgtccacgtatCtgcagaatgcattaataaaa	6	9	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr4:159634413C>T	ENST00000307720.3	-	7	860		c.e7-1			NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D						apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTCCACGTATCTGCAGAATGC	0.378																																																	0													96	88	91					4																	159634413		2203	4300	6503	SO:0001630	splice_region_variant	5481				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.753-1G>A	4.37:g.159634413C>T			B2R9V2	Splice_Site	SNP	-	e7-1	ENST00000307720.3	37	c.753-1	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580015	0.46006	.	.	ENSG00000171497	ENST00000307720	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4496	0.90699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPID	159853863	1.000000	0.71417	0.103000	0.21229	0.012000	0.07955	5.731000	0.68554	2.505000	0.84491	0.557000	0.71058	.	PPID	-	-		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	C	NM_005038	Intron	159634413	-1	no_errors	ENST00000307720	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	159634413	C	T	159634413	5	4	124	1	0	0	0	0	0	0	1	0	12348	927	32	1	376	1	PPID	4	159634413	Splice_Site	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	137219173	159634413	31519863	13	19385										
CLPTM1L	81037	genome.wustl.edu	37	chr5	1341804	1341804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	acctgtgtatcagactccccGgtgagcaggttgatttcttc	10	11	2	3	rs566053718		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:1341804G>A	ENST00000320895.5	-	3	692	c.435C>T	c.(433-435)acC>acT	p.T145T	CLPTM1L_ENST00000507807.1_Silent_p.T12T|CLPTM1L_ENST00000320927.6_Silent_p.T145T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	145					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T145T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CAGACTCCCCGGTGAGCAGGT	0.577													G|||	1	0.000199681	0	0	5008	,	,		17994	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	endometrium(1)											115	105	108					5																	1341804		2203	4300	6503	SO:0001819	synonymous_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.435C>T	5.37:g.1341804G>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	pfam_CLPTM1	p.T145	ENST00000320895.5	37	c.435	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1		0.577	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	G	NM_030782		1341804	-1	no_errors	ENST00000320895	ensembl	human	known	70_37	silent	SNP	0.004	A	A	1341804	G	A	1341804	2	1	124	1	0	0	0	0	0	0	0	1	3560	1103	39	2		2	CLPTM1L	5	1341804	Silent	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		1341804	179573456	14	19386										
FAM151B	167555	genome.wustl.edu	37	chr5	79809458	79809458	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tagaggctgatgtccttcttCcaagtgatggatcagaacac	10	9	2	4			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:79809458C>G	ENST00000282226.4	+	3	342	c.187C>G	c.(187-189)Cca>Gca	p.P63A	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	63										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGTCCTTCTTCCAAGTGATGG	0.443																																																	0													107	98	101					5																	79809458		2203	4300	6503	SO:0001583	missense	167555				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.187C>G	5.37:g.79809458C>G	ENSP00000282226:p.Pro63Ala		A2RRE4	Missense_Mutation	SNP	pfam_DUF2181	p.P63A	ENST00000282226.4	37	c.187	CCDS4051.1	5	.	.	.	.	.	.	.	.	.	.	C	1.574	-0.533470	0.04082	.	.	ENSG00000152380	ENST00000282226	T	0.10668	2.85	6.04	2.27	0.28462	.	0.149838	0.64402	N	0.000020	T	0.07999	0.0200	L	0.46157	1.445	0.22412	N	0.999122	B	0.09022	0.002	B	0.08055	0.003	T	0.41770	-0.9490	10	0.10377	T	0.69	-16.9088	6.8267	0.23887	0.0:0.6403:0.1373:0.2224	.	63	Q6UXP7	F151B_HUMAN	A	63	ENSP00000282226:P63A	ENSP00000282226:P63A	P	+	1	0	FAM151B	79845214	0.991000	0.36638	0.382000	0.26119	0.369000	0.29798	0.332000	0.19751	0.438000	0.26450	-0.251000	0.11542	CCA	FAM151B	-	pfam_DUF2181		0.443	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151B	HGNC	protein_coding	OTTHUMT00000254072.1	C	NM_205548		79809458	1	no_errors	ENST00000282226	ensembl	human	known	70_37	missense	SNP	0.546	G	G	79809458	C	G	79809458	3	3	124	1	0	0	0	0	1	0	0	0	5474	855	30	1	197	1	FAM151B	5	79809458	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	78467654	79809458	101105802	15	19387										
AFAP1L1	134265	genome.wustl.edu	37	chr5	148695471	148695471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ttggccgccgggagacctgtGatcacggtaggagcctctgg	16	11	2	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:148695471G>A	ENST00000296721.4	+	10	1206	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.D370N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	370						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACCTGTGATCACGGTAG	0.617																																																	0													63	58	59					5																	148695471		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1108G>A	5.37:g.148695471G>A	ENSP00000296721:p.Asp370Asn		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D370N	ENST00000296721.4	37	c.1108	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245989	0.39697	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11930	2.73;2.73	5.72	4.86	0.63082	.	0.420897	0.27650	N	0.018432	T	0.19046	0.0457	L	0.43152	1.355	0.41232	D	0.98658	P;B	0.36616	0.561;0.321	B;B	0.43916	0.436;0.063	T	0.02004	-1.1231	10	0.87932	D	0	-4.6286	13.2107	0.59822	0.0737:0.0:0.9263:0.0	.	370;370	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	370	ENSP00000296721:D370N;ENSP00000424427:D370N	ENSP00000296721:D370N	D	+	1	0	AFAP1L1	148675664	1.000000	0.71417	0.885000	0.34714	0.006000	0.05464	7.280000	0.78610	1.427000	0.47276	-0.291000	0.09656	GAT	AFAP1L1	-	NULL		0.617	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	G	NM_152406		148695471	1	no_errors	ENST00000296721	ensembl	human	known	70_37	missense	SNP	0.914	A	A	148695471	G	A	148695471	3	1	124	1	0	0	0	0	1	0	0	0	354	1290	45	1	1146	1	AFAP1L1	5	148695471	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	68886013	148695471	32219789	16	19388										
GEMIN5	25929	genome.wustl.edu	37	chr5	154280965	154280965	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tgtggatggaaagtaggtgaGaagcagccttgacatactga	14	5	0	3			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:154280965G>C	ENST00000285873.7	-	21	3023	c.2948C>G	c.(2947-2949)tCt>tGt	p.S983C		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	983					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGTAGGTGAGAAGCAGCCTT	0.453																																																	0													117	116	116					5																	154280965		2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2948C>G	5.37:g.154280965G>C	ENSP00000285873:p.Ser983Cys		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S983C	ENST00000285873.7	37	c.2948	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334837	0.81801	.	.	ENSG00000082516	ENST00000285873	T	0.73363	-0.74	5.93	5.06	0.68205	.	0.054427	0.85682	N	0.000000	D	0.86197	0.5875	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87983	0.2744	10	0.72032	D	0.01	-10.7747	17.2669	0.87089	0.0:0.1255:0.8744:0.0	.	982;983	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	C	983	ENSP00000285873:S983C	ENSP00000285873:S983C	S	-	2	0	GEMIN5	154261158	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.147000	0.94646	1.493000	0.48517	-0.165000	0.13383	TCT	GEMIN5	-	NULL		0.453	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	G			154280965	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154280965	G	C	154280965	3	2	124	1	0	0	0	0	1	0	0	0	6350	942	33	1	1610	1	GEMIN5	5	154280965	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	5585494	154280965	26634295	17	19389										
HLA-A	3105	genome.wustl.edu	37	chr6	29911898	29911898	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ttttctgactcttcccgtcaGacccccccaagacacatatg	5	16	3	3	rs199474608|rs386698554		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:29911898G>A	ENST00000396634.1	+	6	960		c.e6-1		HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTTCCCGTCAGACCCCCCCAA	0.572									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							1	Unknown(1)	lung(1)											117	148	137					6																	29911898		1505	2709	4214	SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.620-1G>A	6.37:g.29911898G>A			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	-	e4-1	ENST00000396634.1	37	c.620-1	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	g	12.77	2.037751	0.35989	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30019877	1.000000	0.71417	0.490000	0.27465	0.007000	0.05969	4.772000	0.62324	2.070000	0.61991	0.485000	0.47835	.	HLA-A	-	-		0.572	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116	Intron	29911898	1	no_errors	ENST00000376806	ensembl	human	known	70_37	splice_site	SNP	0.987	A	A	29911898	G	A	29911898	5	1	124	1	0	0	0	0	0	0	1	0	7215	956	33	1	633	1	HLA-A	6	29911898	Splice_Site	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		29911898	141203169	18	19390										
NEU1	4758	genome.wustl.edu	37	chr6	31827564	31827564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gtagtggttccggcctttctCatacaggacgtagagctggg	14	9	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:31827564C>T	ENST00000375631.4	-	6	1309	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	394					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CGGCCTTTCTCATACAGGACG	0.582																																																	0													143	144	144					6																	31827564		1509	2708	4217	SO:0001583	missense	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.1180G>A	6.37:g.31827564C>T	ENSP00000364782:p.Glu394Lys			Missense_Mutation	SNP	superfamily_Neuraminidase	p.E394K	ENST00000375631.4	37	c.1180	CCDS4723.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.251074	0.95305	.	.	ENSG00000204386	ENST00000375631	D	0.87887	-2.31	5.4	5.4	0.78164	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92668	0.6147	10	0.87932	D	0	-8.6601	16.7195	0.85406	0.0:1.0:0.0:0.0	.	394	Q99519	NEUR1_HUMAN	K	394	ENSP00000364782:E394K	ENSP00000364782:E394K	E	-	1	0	NEU1	31935543	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.128000	0.77217	2.814000	0.96858	0.563000	0.77884	GAG	NEU1	-	superfamily_Neuraminidase		0.582	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU1	HGNC	protein_coding	OTTHUMT00000076616.2	C			31827564	-1	no_errors	ENST00000375631	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31827564	C	T	31827564	3	4	124	1	0	0	0	0	1	0	0	0	10365	835	29	1	71	1	NEU1	6	31827564	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	1915666	31827564	139287503	19	19391										
CUTA	51596	genome.wustl.edu	37	chr6	33384740	33384740	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gaccaaggaactttgggtttTaatcatctaagggacaaaga	10	6	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:33384740T>G	ENST00000488034.1	-	5	491	c.370A>C	c.(370-372)Aaa>Caa	p.K124Q	CUTA_ENST00000607266.1_Missense_Mutation_p.K101Q|CUTA_ENST00000440279.3_Missense_Mutation_p.K101Q|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.K143Q|CUTA_ENST00000374496.3_Missense_Mutation_p.K101Q|CUTA_ENST00000488478.1_Intron|CUTA_ENST00000494751.1_Missense_Mutation_p.K101Q	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	124					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CTTTGGGTTTTAATCATCTAA	0.468																																																	0													119	122	121					6																	33384740		2203	4300	6503	SO:0001583	missense	51596			AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.370A>C	6.37:g.33384740T>G	ENSP00000417544:p.Lys124Gln		A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.K143Q	ENST00000488034.1	37	c.427	CCDS34433.1	6	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339368	0.81911	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000494751;ENST00000374496	.	.	.	4.66	4.66	0.58398	Nitrogen regulatory PII-like, alpha/beta (1);	0.048552	0.85682	D	0.000000	D	0.84474	0.5480	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88579	0.3135	9	0.87932	D	0	-12.0176	10.4082	0.44276	0.0:0.0:0.0:1.0	.	143;124	O60888-2;O60888	.;CUTA_HUMAN	Q	143;101;124;101;101	.	ENSP00000363620:K101Q	K	-	1	0	CUTA	33492718	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.005000	0.63972	1.952000	0.56665	0.459000	0.35465	AAA	CUTA	-	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b		0.468	CUTA-008	KNOWN	basic|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076541.3	T	NM_015921		33384740	-1	no_errors	ENST00000374500	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33384740	T	G	33384740	3	3	124	1	0	0	0	0	1	0	0	0	4067	1763	61	5	177	5	CUTA	6	33384740	Missense_Mutation	SNP	T	TCGA-EX-A69L-01A-11D-A32I-09	1557176	33384740	137730327	20	19392										
NUDT3	11165	genome.wustl.edu	37	chr6	34261289	34261289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	acaatgagcacatagacataCgtcctgtgcttcctctcctg	7	13	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:34261289C>T	ENST00000607016.1	-	4	590	c.279G>A	c.(277-279)acG>acA	p.T93T	RPS10-NUDT3_ENST00000605528.1_Silent_p.T212T	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	93	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						CATAGACATACGTCCTGTGCT	0.438																																					GBM(96;1206 1939 18658 39482)												0													142	132	135					6																	34261289		2203	4300	6503	SO:0001819	synonymous_variant	11165			AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"Nudix motif containing"	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.279G>A	6.37:g.34261289C>T			B2R8N4	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.T93	ENST00000607016.1	37	c.279	CCDS4791.1	6																																																																																			NUDT3	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.438	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT3	HGNC	protein_coding	OTTHUMT00000040224.2	C			34261289	-1	no_errors	ENST00000358797	ensembl	human	known	70_37	silent	SNP	0.048	T	T	34261289	C	T	34261289	2	4	124	1	0	0	0	0	0	0	0	1	10764	523	19	2		2	NUDT3	6	34261289	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	876549	34261289	136853778	21	19393										
ABCC10	89845	genome.wustl.edu	37	chr6	43406530	43406530	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tgcgccctcaatgatgacctCagtgtgagtgcctggccttg	12	12	2	3			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:43406530C>G	ENST00000372530.4	+	8	2339	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	ABCC10_ENST00000244533.3_Silent_p.L680L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	708	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ATGATGACCTCAGTGTGAGTG	0.517																																																	0													118	104	109					6																	43406530		2203	4300	6503	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2124C>G	6.37:g.43406530C>G			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L708	ENST00000372530.4	37	c.2124	CCDS56430.1	6																																																																																			ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.517	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43406530	1	no_errors	ENST00000372530	ensembl	human	known	70_37	silent	SNP	0.015	G	G	43406530	C	G	43406530	2	3	124	1	0	0	0	0	0	0	0	1	50	813	29	1		1	ABCC10	6	43406530	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	9145241	43406530	127708537	22	19394										
MUT	4594	genome.wustl.edu	37	chr6	49403181	49403181	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	aaaaatacctgaggtggtatCacccctccacacatgacaag	7	12	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:49403181C>T	ENST00000274813.3	-	12	2239	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	704	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGGTATCACCCCTCCAC	0.398																																																	0													88	74	79					6																	49403181		2203	4300	6503	SO:0001819	synonymous_variant	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.2112G>A	6.37:g.49403181C>T			A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.V704	ENST00000274813.3	37	c.2112	CCDS4924.1	6																																																																																			MUT	-	pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C		0.398	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	C			49403181	-1	no_errors	ENST00000274813	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49403181	C	T	49403181	2	4	124	1	0	0	0	0	0	0	0	1	10014	813	29	1		1	MUT	6	49403181	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	5996651	49403181	121711886	23	19395										
TCF21	6943	genome.wustl.edu	37	chr6	134212865	134212865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ccgcagacgtggccctttatGgtggccgggaaacccgagag	15	12	0	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:134212865G>T	ENST00000367882.4	+	2	725	c.465G>T	c.(463-465)atG>atT	p.M155I	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.M155I|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	155					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGCCCTTTATGGTGGCCGGGA	0.627																																																	0													45	45	45					6																	134212865		2203	4300	6503	SO:0001583	missense	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.465G>T	6.37:g.134212865G>T	ENSP00000356857:p.Met155Ile		E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.M155I	ENST00000367882.4	37	c.465	CCDS5167.1	6	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443566	0.43429	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96073	-3.9;-3.9	5.63	4.74	0.60224	Helix-loop-helix DNA-binding (1);	0.081437	0.85682	D	0.000000	D	0.89438	0.6715	L	0.50333	1.59	0.53688	D	0.999976	B	0.19200	0.034	B	0.11329	0.006	D	0.86215	0.1627	10	0.20046	T	0.44	-22.7994	16.4148	0.83730	0.0:0.1317:0.8683:0.0	.	155	O43680	TCF21_HUMAN	I	155	ENSP00000356857:M155I;ENSP00000237316:M155I	ENSP00000237316:M155I	M	+	3	0	TCF21	134254558	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.777000	0.85628	1.346000	0.45694	0.650000	0.86243	ATG	TCF21	-	superfamily_HLH_dom		0.627	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	G	NM_198392		134212865	1	no_errors	ENST00000237316	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134212865	G	T	134212865	3	4	124	1	0	0	0	0	1	0	0	0	15721	1348	47	4	471	4	TCF21	6	134212865	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	84809684	134212865	36902202	24	19396										
ACTB	60	genome.wustl.edu	37	chr7	5568000	5568000	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ccgtcaggcagctcgtagctCttctccagggaggagctgga	14	12	3	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:5568000C>G	ENST00000331789.5	-	4	905	c.714G>C	c.(712-714)aaG>aaC	p.K238N	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	238					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCTCGTAGCTCTTCTCCAGGG	0.597																																																	0													62	64	63					7																	5568000		2203	4300	6503	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.714G>C	7.37:g.5568000C>G	ENSP00000349960:p.Lys238Asn		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.K238N	ENST00000331789.5	37	c.714	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663417	0.67700	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94687	-3.49	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000009	D	0.97611	0.9217	M	0.90369	3.11	0.58432	D	0.999997	P	0.34780	0.468	P	0.53549	0.729	D	0.97887	1.0295	10	0.87932	D	0	.	18.1418	0.89642	0.0:1.0:0.0:0.0	.	238	P60709	ACTB_HUMAN	N	238;214;210;157	ENSP00000349960:K238N	ENSP00000440549:K157N	K	-	3	2	ACTB	5534526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.800000	0.69108	2.617000	0.88574	0.650000	0.86243	AAG	ACTB	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.597	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	C	NM_001101		5568000	-1	no_errors	ENST00000331789	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5568000	C	G	5568000	3	3	124	1	0	0	0	0	1	0	0	0	193	912	32	1	425	1	ACTB	7	5568000	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		5568000	153570663	25	19397										
MUC17	140453	genome.wustl.edu	37	chr7	100678400	100678400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	acacgccagtggccagttctGaggctagcaccctttcaaca	9	14	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:100678400G>A	ENST00000306151.4	+	3	3767	c.3703G>A	c.(3703-3705)Gag>Aag	p.E1235K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1235	59 X approximate tandem repeats.|Ser-rich.				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)			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)					GGCCAGTTCTGAGGCTAGCAC	0.517																																																	0													304	291	296					7																	100678400		2203	4300	6503	SO:0001583	missense	140453			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.3703G>A	7.37:g.100678400G>A	ENSP00000302716:p.Glu1235Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1235K	ENST00000306151.4	37	c.3703	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.218	0.225743	0.09916	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.471	0.471	0.16752	.	.	.	.	.	T	0.03827	0.0108	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.57009	0.811	T	0.26916	-1.0089	8	0.07175	T	0.84	.	.	.	.	.	1235	Q685J3	MUC17_HUMAN	K	1235	ENSP00000302716:E1235K	ENSP00000302716:E1235K	E	+	1	0	MUC17	100465120	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	0.216000	0.17585	0.558000	0.29135	0.134000	0.15878	GAG	MUC17	-	NULL		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100678400	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.019	A	A	100678400	G	A	100678400	3	1	124	1	0	0	0	0	1	0	0	0	9997	1291	45	1	3713	1	MUC17	7	100678400	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	95110400	100678400	58460263	26	19398										
CUL1	8454	genome.wustl.edu	37	chr7	148495070	148495070	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	aatgttgatgaggtggaattGaagccagataccttaataaa	10	4	0	4			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:148495070G>A	ENST00000325222.4	+	19	2268	c.1989G>A	c.(1987-1989)ttG>ttA	p.L663L	CUL1_ENST00000602748.1_Silent_p.L663L|CUL1_ENST00000409469.1_Silent_p.L663L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	663					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGGTGGAATTGAAGCCAGATA	0.368																																																	0													55	55	55					7																	148495070		2203	4300	6503	SO:0001819	synonymous_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1989G>A	7.37:g.148495070G>A			D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L663	ENST00000325222.4	37	c.1989	CCDS34772.1	7																																																																																			CUL1	-	superfamily_Cullin_homology		0.368	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148495070	1	no_errors	ENST00000325222	ensembl	human	known	70_37	silent	SNP	1.000	A	A	148495070	G	A	148495070	2	1	124	1	0	0	0	0	0	0	0	1	4059	1281	45	1		1	CUL1	7	148495070	Silent	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	47816670	148495070	10643593	27	19399										
EZH2	2146	genome.wustl.edu	37	chr7	148523576	148523576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cttacgatgtaggaagcagtCatatttaaaacatcgcctac	7	9	1	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:148523576C>G	ENST00000460911.1	-	8	965	c.877G>C	c.(877-879)Gac>Cac	p.D293H	EZH2_ENST00000320356.2_Missense_Mutation_p.D293H|EZH2_ENST00000541220.1_Missense_Mutation_p.D284H|EZH2_ENST00000350995.2_Missense_Mutation_p.D254H|EZH2_ENST00000536783.1_Missense_Mutation_p.D184H|EZH2_ENST00000478654.1_Missense_Mutation_p.D284H|EZH2_ENST00000483967.1_Missense_Mutation_p.D284H|EZH2_ENST00000476773.1_Missense_Mutation_p.D284H			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	293	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGGAAGCAGTCATATTTAAAA	0.363			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													141	118	125					7																	148523576		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.877G>C	7.37:g.148523576C>G	ENSP00000419711:p.Asp293His		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.D293H	ENST00000460911.1	37	c.877	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	c	26.2	4.719345	0.89205	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;1.0;0.999;1.0;0.999	D	0.96480	0.9355	10	0.87932	D	0	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	293;284;284;293;254;293	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	H	284;293;293;254;284;284;284;184	ENSP00000417062:D284H;ENSP00000320147:D293H;ENSP00000419711:D293H;ENSP00000223193:D254H;ENSP00000443219:D284H;ENSP00000419050:D284H;ENSP00000419856:D284H;ENSP00000439305:D184H	ENSP00000320147:D293H	D	-	1	0	EZH2	148154509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.582000	0.87167	0.591000	0.81541	GAC	EZH2	-	NULL		0.363	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	C	NM_004456		148523576	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148523576	C	G	148523576	3	3	124	1	0	0	0	0	1	0	0	0	5346	826	29	1	1430	1	EZH2	7	148523576	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	28506	148523576	10615087	28	19400										
ZNF484	83744	genome.wustl.edu	37	chr9	95608983	95608983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tgcaaaggctttcccacattCactgcactcataatgccttt	5	13	2	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr9:95608983C>T	ENST00000375495.3	-	5	2234	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ZNF484_ENST00000332591.6_Missense_Mutation_p.E660K|ZNF484_ENST00000395505.2_Missense_Mutation_p.E660K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.E698K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	696					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCCCACATTCACTGCACTCA	0.393																																																	0													70	74	73					9																	95608983		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2086G>A	9.37:g.95608983C>T	ENSP00000364645:p.Glu696Lys		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E698K	ENST00000375495.3	37	c.2092	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	11.18	1.563958	0.27915	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18467	0.0443	L	0.58302	1.8	0.25893	N	0.983458	B;B	0.17667	0.023;0.011	B;B	0.16289	0.015;0.004	T	0.12268	-1.0554	9	0.49607	T	0.09	.	10.7577	0.46247	0.0:1.0:0.0:0.0	.	698;696	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	660;698;696;660	ENSP00000378881:E660K;ENSP00000378882:E698K;ENSP00000364645:E696K;ENSP00000364646:E660K	ENSP00000364646:E660K	E	-	1	0	ZNF484	94648804	0.000000	0.05858	0.993000	0.49108	0.989000	0.77384	-0.027000	0.12371	1.596000	0.50062	0.551000	0.68910	GAA	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95608983	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.987	T	T	95608983	C	T	95608983	3	4	124	1	0	0	0	0	1	0	0	0	17967	835	29	1	476	1	ZNF484	9	95608983	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		95608983	45604448	29	19401										
CTNNAL1	8727	genome.wustl.edu	37	chr9	111775718	111775718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cggcgggtccgggagaggcgGccatggccctcggtctatcc	17	14	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr9:111775718G>T	ENST00000325551.4	-	1	91	c.5C>A	c.(4-6)gCc>gAc	p.A2D	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A2D|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.A2D|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.A2D	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	2					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGGAGAGGCGGCCATGGCCCT	0.746																																																	0													3	4	4					9																	111775718		1652	3413	5065	SO:0001583	missense	8727			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.5C>A	9.37:g.111775718G>T	ENSP00000320434:p.Ala2Asp		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.A2D	ENST00000325551.4	37	c.5	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439682	0.43326	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.68765	1.53;1.64;1.52;-0.35	3.82	3.82	0.43975	.	0.000000	0.40144	N	0.001171	T	0.45677	0.1354	N	0.08118	0	0.37305	D	0.908868	B;B;B	0.23058	0.048;0.079;0.048	B;B;B	0.21546	0.015;0.035;0.015	T	0.54682	-0.8257	10	0.87932	D	0	-4.838	11.0862	0.48089	0.0:0.0:1.0:0.0	.	2;2;2	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	D	2	ENSP00000363723:A2D;ENSP00000320434:A2D;ENSP00000323351:A2D;ENSP00000363721:A2D	ENSP00000320434:A2D	A	-	2	0	CTNNAL1	110815539	1.000000	0.71417	0.994000	0.49952	0.107000	0.19398	1.855000	0.39378	1.942000	0.56320	0.561000	0.74099	GCC	CTNNAL1	-	NULL		0.746	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	G	NM_003798		111775718	-1	no_errors	ENST00000325551	ensembl	human	known	70_37	missense	SNP	0.991	T	T	111775718	G	T	111775718	3	4	124	1	0	0	0	0	1	0	0	0	4020	1203	42	4	2275	4	CTNNAL1	9	111775718	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	16166735	111775718	29437713	30	19402										
SETX	23064	genome.wustl.edu	37	chr9	135205161	135205161	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gagattttacatgcagaagtCagatccacaaaagtgttaca	8	7	1	3			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr9:135205161C>G	ENST00000224140.5	-	10	2006	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	SETX_ENST00000372169.2_Silent_p.L608L|SETX_ENST00000393220.1_Silent_p.L608L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	608					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGCAGAAGTCAGATCCACAA	0.358																																																	0													69	63	65					9																	135205161		2203	4299	6502	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1824G>C	9.37:g.135205161C>G			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.L608	ENST00000224140.5	37	c.1824	CCDS6947.1	9																																																																																			SETX	-	NULL		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	C	NM_015046		135205161	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	silent	SNP	0.007	G	G	135205161	C	G	135205161	2	3	124	1	0	0	0	0	0	0	0	1	14171	813	29	1		1	SETX	9	135205161	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	23429443	135205161	6008270	31	19403										
MYST4	23522	genome.wustl.edu	37	chr10	76789437	76789437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gttctgtcaacagcccaagtGtccctgctctggaaaacagc	9	13	3	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:76789437G>A	ENST00000287239.4	+	18	5344	c.4855G>A	c.(4855-4857)Gtc>Atc	p.V1619I	KAT6B_ENST00000372714.1_Missense_Mutation_p.V1327I|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1327I|KAT6B_ENST00000372711.1_Missense_Mutation_p.V1436I|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1327I	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1619	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAGCCCAAGTGTCCCTGCTCT	0.547																																																	0													173	143	153					10																	76789437		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4855G>A	10.37:g.76789437G>A	ENSP00000287239:p.Val1619Ile		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V1619I	ENST00000287239.4	37	c.4855	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869538	0.51588	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80566	-1.36;-1.36;-1.39;-1.36;-1.37	4.7	4.7	0.59300	.	0.000000	0.45126	D	0.000397	D	0.84065	0.5390	L	0.27053	0.805	0.54753	D	0.999988	D;D;D	0.61697	0.959;0.99;0.969	D;D;P	0.75484	0.949;0.986;0.903	D	0.86437	0.1764	10	0.62326	D	0.03	-7.1538	17.6433	0.88142	0.0:0.0:1.0:0.0	.	1436;1327;1619	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	I	1327;1327;1619;1327;1436	ENSP00000361810:V1327I;ENSP00000361809:V1327I;ENSP00000287239:V1619I;ENSP00000361799:V1327I;ENSP00000361796:V1436I	ENSP00000287239:V1619I	V	+	1	0	KAT6B	76459443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.430000	0.97488	2.154000	0.67381	0.563000	0.77884	GTC	KAT6B	-	NULL		0.547	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76789437	1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76789437	G	A	76789437	3	1	124	1	0	0	0	0	1	0	0	0	10128	1377	48	4	4917	4	MYST4	10	76789437	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		76789437	58745310	32	19404										
KCNMA1	3778	genome.wustl.edu	37	chr10	78651444	78651444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcctccggtcaccagggtccGtatcagggtgaggatattgt	13	10	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:78651444G>A	ENST00000286628.8	-	26	3180	c.3181C>T	c.(3181-3183)Cgg>Tgg	p.R1061W	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1044W|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1064W|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1030W|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1003W|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1003W|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1061W|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1065W|RP11-443A13.5_ENST00000429850.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACCAGGGTCCGTATCAGGGTG	0.547																																																	0													61	62	62					10																	78651444		2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3181C>T	10.37:g.78651444G>A	ENSP00000286628:p.Arg1061Trp		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.R1065W	ENST00000286628.8	37	c.3193		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.280911|4.280911	0.80692|0.80692	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	D;D;D;D;D;D;D;D;D|.	0.85629|.	-1.97;-1.98;-1.99;-1.99;-1.98;-1.96;-2.01;-2.01;-2.0|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72120|0.72120	0.3421|0.3421	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.987;0.994;1.0;0.994;0.997;0.996;0.987|.	T|T	0.71220|0.71220	-0.4657|-0.4657	10|5	0.87932|.	D|.	0|.	-12.0615|-12.0615	14.294|14.294	0.66300|0.66300	0.0:0.0:0.8514:0.1485|0.0:0.0:0.8514:0.1485	.|.	1032;1033;1044;1061;1003;814;1064;1030|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	W|M	1003;940;996;1035;998;1030;1003;1035;1065;1064;1044;814|991;710	ENSP00000361517:R1003W;ENSP00000361485:R940W;ENSP00000361514:R996W;ENSP00000396608:R1035W;ENSP00000361520:R1030W;ENSP00000286627:R1003W;ENSP00000385552:R1065W;ENSP00000346321:R1064W;ENSP00000385806:R1044W|.	ENSP00000286627:R1003W|.	R|T	-|-	1|2	2|0	KCNMA1|KCNMA1	78321450|78321450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.214000|6.214000	0.72200|0.72200	2.607000|2.607000	0.88179|0.88179	0.585000|0.585000	0.79938|0.79938	CGG|ACG	KCNMA1	-	NULL		0.547	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	G	NM_002247		78651444	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78651444	G	A	78651444	3	1	124	1	0	0	0	0	1	0	0	0	8093	1144	40	2	570	2	KCNMA1	10	78651444	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	1862007	78651444	56883303	33	19405										
MGEA5	10724	genome.wustl.edu	37	chr10	103563732	103563732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cttaataatcttagaaacctCttcgatggactctactggaa	6	9	3	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:103563732C>G	ENST00000361464.3	-	7	1191	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	MGEA5_ENST00000357797.5_Missense_Mutation_p.E266Q|MGEA5_ENST00000370094.3_Missense_Mutation_p.E266Q|MGEA5_ENST00000439817.1_Missense_Mutation_p.E266Q	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	266					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTAGAAACCTCTTCGATGGAC	0.393																																																	0													92	98	96					10																	103563732		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.796G>C	10.37:g.103563732C>G	ENSP00000354850:p.Glu266Gln		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.E266Q	ENST00000361464.3	37	c.796	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.501045	0.96371	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.35236	1.43;1.34;1.44;1.32	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.48986	1.54	0.80722	D	1	D;D;D;D	0.55172	0.97;0.963;0.959;0.97	P;P;P;P	0.62813	0.907;0.85;0.835;0.892	T	0.48636	-0.9018	10	0.52906	T	0.07	-18.0855	20.5568	0.99304	0.0:1.0:0.0:0.0	.	266;266;266;266	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	Q	266;266;266;266;181	ENSP00000409973:E266Q;ENSP00000354850:E266Q;ENSP00000350445:E266Q;ENSP00000359112:E266Q	ENSP00000350445:E266Q	E	-	1	0	MGEA5	103553722	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.764000	0.85297	2.861000	0.98227	0.655000	0.94253	GAG	MGEA5	-	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF		0.393	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	C	NM_012215		103563732	-1	no_errors	ENST00000361464	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103563732	C	G	103563732	3	3	124	1	0	0	0	0	1	0	0	0	9578	922	32	1	1994	1	MGEA5	10	103563732	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	24912288	103563732	31971015	34	19406										
OR51A7	119687	genome.wustl.edu	37	chr11	4929287	4929287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctatactcagcattgcatctTtggcagagaggcttaaggcc	10	10	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:4929287T>C	ENST00000359350.4	+	1	688	c.688T>C	c.(688-690)Ttg>Ctg	p.L230L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGCATCTTTGGCAGAGAG	0.468																																																	0													230	195	207					11																	4929287		2201	4298	6499	SO:0001819	synonymous_variant	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.688T>C	11.37:g.4929287T>C			Q6IFH8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L230	ENST00000359350.4	37	c.688	CCDS31364.1	11																																																																																			OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	T	NM_001004749		4929287	1	no_errors	ENST00000359350	ensembl	human	known	70_37	silent	SNP	0.000	C	C	4929287	T	C	4929287	2	2	124	1	0	0	0	0	0	0	0	1	11112	1838	64	5		5	OR51A7	11	4929287	Silent	SNP	T	TCGA-EX-A69L-01A-11D-A32I-09		4929287	130077229	35	19407										
SWAP70	23075	genome.wustl.edu	37	chr11	9759861	9759861	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	agcacagagctggaaagagaGaagcttgtgagtatcacatg	13	6	1	4			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:9759861G>T	ENST00000318950.6	+	8	1285	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SWAP70_ENST00000447399.2_Missense_Mutation_p.E336D	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	394					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGGAAAGAGAGAAGCTTGTGA	0.537																																																	0													55	52	53					11																	9759861		2201	4294	6495	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1182G>T	11.37:g.9759861G>T	ENSP00000315630:p.Glu394Asp		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology	p.E394D	ENST00000318950.6	37	c.1182	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164703	0.57476	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.22743	1.94;1.94	5.27	2.35	0.29111	.	0.107189	0.64402	D	0.000002	T	0.29288	0.0729	L	0.32530	0.975	0.46317	D	0.998986	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.78314	0.987;0.991;0.978	T	0.01195	-1.1422	10	0.38643	T	0.18	-25.0792	8.2414	0.31662	0.3185:0.0:0.6815:0.0	.	336;394;336	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	D	336;394	ENSP00000399056:E336D;ENSP00000315630:E394D	ENSP00000315630:E394D	E	+	3	2	SWAP70	9716437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.294000	0.43567	0.304000	0.22809	0.585000	0.79938	GAG	SWAP70	-	NULL		0.537	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	G	NM_015055		9759861	1	no_errors	ENST00000318950	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9759861	G	T	9759861	3	4	124	1	0	0	0	0	1	0	0	0	15455	933	33	3	1212	3	SWAP70	11	9759861	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	4830574	9759861	125246655	36	19408										
C11orf30	56946	genome.wustl.edu	37	chr11	76253261	76253261	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcacctcctctattttcagtCagccatcgctcccagcccca	4	19	4	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:76253261C>T	ENST00000529032.1	+	17	2559	c.2559C>T	c.(2557-2559)gtC>gtT	p.V853V	C11orf30_ENST00000533248.1_Silent_p.V762V|C11orf30_ENST00000525919.1_Splice_Site_p.V854V|C11orf30_ENST00000524490.1_Splice_Site_p.V755V|C11orf30_ENST00000334736.3_Splice_Site_p.V853V|C11orf30_ENST00000524767.1_Splice_Site_p.V868V|C11orf30_ENST00000525038.1_Splice_Site_p.V854V|C11orf30_ENST00000343878.3_Splice_Site_p.V853V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	853					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TATTTTCAGTCAGCCATCGCT	0.507																																																	0													122	127	125					11																	76253261		2200	4292	6492	SO:0001630	splice_region_variant	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2558-1C>T	11.37:g.76253261C>T			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	pfam_ENT_N,pfscan_ENT_N	p.V853	ENST00000529032.1	37	c.2559	CCDS8244.1	11																																																																																			C11orf30	-	NULL		0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	C	NM_020193	Silent	76253261	1	no_errors	ENST00000334736	ensembl	human	known	70_37	silent	SNP	0.997	T	T	76253261	C	T	76253261	5	4	124	1	0	0	0	0	0	0	1	0	1640	840	29	1	2625	1	C11orf30	11	76253261	Splice_Site	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	66493400	76253261	58753255	37	19409										
RSF1	51773	genome.wustl.edu	37	chr11	77436745	77436745	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cagccaactcgtttcgatttCtaaacaaggaaaaaaataag	6	8	1	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:77436745C>G	ENST00000308488.6	-	5	881		c.e5-1		RSF1_ENST00000360355.2_Splice_Site			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1						CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTTTCGATTTCTAAACAAGGA	0.328																																																	0													71	65	67					11																	77436745		2199	4292	6491	SO:0001630	splice_region_variant	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.579-1G>C	11.37:g.77436745C>G			Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Splice_Site	SNP	-	e5-1	ENST00000308488.6	37	c.579-1	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648774	0.67358	.	.	ENSG00000048649	ENST00000308488;ENST00000360355;ENST00000528095;ENST00000440064	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8095	0.96541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSF1	77114393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.775000	0.95449	0.650000	0.86243	.	RSF1	-	-		0.328	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	C	NM_016578	Intron	77436745	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	77436745	C	G	77436745	5	3	124	1	0	0	0	0	0	0	1	0	13729	927	32	1	3795	1	RSF1	11	77436745	Splice_Site	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	1183484	77436745	57569771	38	19410										
HTR3B	9177	genome.wustl.edu	37	chr11	113813893	113813893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ccaaccaggtgccacggagtGtagggagcacccctctgatt	12	13	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:113813893G>T	ENST00000260191.2	+	7	1143	c.886G>T	c.(886-888)Gta>Tta	p.V296L	HTR3B_ENST00000537778.1_Missense_Mutation_p.V285L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	296					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCCACGGAGTGTAGGGAGCAC	0.572																																																	0													91	67	75					11																	113813893		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.886G>T	11.37:g.113813893G>T	ENSP00000260191:p.Val296Leu		B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.V296L	ENST00000260191.2	37	c.886	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971413	0.18736	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.85339	-1.97;-1.97	5.41	-3.96	0.04106	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.359492	0.31415	N	0.007693	T	0.63414	0.2509	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.006;0.011	B;B	0.19666	0.026;0.016	T	0.52139	-0.8615	10	0.87932	D	0	-0.1385	4.2865	0.10857	0.3775:0.0:0.2934:0.3291	.	285;296	O95264-2;O95264	.;5HT3B_HUMAN	L	296;285	ENSP00000260191:V296L;ENSP00000443118:V285L	ENSP00000260191:V296L	V	+	1	0	HTR3B	113319103	0.070000	0.21116	0.000000	0.03702	0.008000	0.06430	0.589000	0.23939	-0.889000	0.03950	-0.142000	0.14014	GTA	HTR3B	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113813893	1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	0.019	T	T	113813893	G	T	113813893	3	4	124	1	0	0	0	0	1	0	0	0	7465	1377	48	4	912	4	HTR3B	11	113813893	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	36377148	113813893	21192623	39	19411										
HINFP	25988	genome.wustl.edu	37	chr11	119003445	119003445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tccgcaaccacatgcgctttCgtcacagtgaggaccggccc	10	16	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:119003445C>T	ENST00000350777.2	+	7	892	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	HINFP_ENST00000527410.1_Missense_Mutation_p.R277C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	277					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGCGCTTTCGTCACAGTGA	0.547																																																	0													120	113	116					11																	119003445		2200	4295	6495	SO:0001583	missense	25988			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.829C>T	11.37:g.119003445C>T	ENSP00000318085:p.Arg277Cys		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R277C	ENST00000350777.2	37	c.829	CCDS8414.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941936	0.92526	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.28895	1.59;1.59	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	N	0.25890	0.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46119	-0.9214	10	0.87932	D	0	-29.9316	19.8599	0.96779	0.0:1.0:0.0:0.0	.	277	Q9BQA5	HINFP_HUMAN	C	277	ENSP00000318085:R277C;ENSP00000436815:R277C	ENSP00000318085:R277C	R	+	1	0	HINFP	118508655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.369000	0.59511	2.710000	0.92621	0.655000	0.94253	CGT	HINFP	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	HGNC	protein_coding	OTTHUMT00000388201.2	C	NM_015517		119003445	1	no_errors	ENST00000350777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119003445	C	T	119003445	3	4	124	1	0	0	0	0	1	0	0	0	7130	884	31	1	851	1	HINFP	11	119003445	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	5189552	119003445	16003071	40	19412										
AKAP3	10566	genome.wustl.edu	37	chr12	4737915	4737915	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcttggaactctgctgtactCttctccaggtctctgcggag	10	12	5	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr12:4737915C>T	ENST00000545990.2	-	5	677	c.153G>A	c.(151-153)aaG>aaA	p.K51K	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Silent_p.K51K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	51					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTGCTGTACTCTTCTCCAGGT	0.473																																																	0													63	57	59					12																	4737915		2203	4300	6503	SO:0001819	synonymous_variant	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.153G>A	12.37:g.4737915C>T			O75945|Q86X01|Q9UM61	Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.K51	ENST00000545990.2	37	c.153	CCDS8531.1	12																																																																																			AKAP3	-	smart_AKAP_110		0.473	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4737915	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	silent	SNP	0.920	T	T	4737915	C	T	4737915	2	4	124	1	0	0	0	0	0	0	0	1	452	912	32	1		1	AKAP3	12	4737915	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		4737915	129113980	41	19413										
OXA1L	5018	genome.wustl.edu	37	chr14	23235776	23235776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tacccacttcaaatatggccGccaagctccgttctctttta	5	14	2	0	rs149160371		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:23235776G>T	ENST00000285848.5	+	1	46	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	OXA1L_ENST00000604262.1_5'Flank|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.A16S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAATATGGCCGCCAAGCTCCG	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											118	122	121					14																	23235776		2203	4300	6503	SO:0001583	missense	5018				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.46G>T	14.37:g.23235776G>T	ENSP00000285848:p.Ala16Ser		B4DPA2	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membrane_insert_OXA1/ALB3/YidC	p.A16S	ENST00000285848.5	37	c.46	CCDS9573.1	14	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581070	0.46006	.	.	ENSG00000155463	ENST00000285848	T	0.36699	1.24	4.98	3.16	0.36331	.	1.048650	0.07674	U	0.936032	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	P	0.39216	0.664	B	0.32149	0.141	T	0.01583	-1.1319	10	0.87932	D	0	-1.1814	7.1234	0.25458	0.1998:0.0:0.8002:0.0	.	16	Q2M1J6	.	S	16	ENSP00000285848:A16S	ENSP00000285848:A16S	A	+	1	0	OXA1L	22305616	0.711000	0.27906	0.590000	0.28732	0.774000	0.43823	0.728000	0.26013	0.696000	0.31696	0.655000	0.94253	GCC	OXA1L	-	NULL		0.493	OXA1L-001	KNOWN	basic|CCDS	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000071630.2	G	NM_005015		23235776	1	no_errors	ENST00000285848	ensembl	human	known	70_37	missense	SNP	0.829	T	T	23235776	G	T	23235776	3	4	124	1	0	0	0	0	1	0	0	0	11352	1087	38	2	48	2	OXA1L	14	23235776	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		23235776	84113764	42	19414										
NFKBIA	4792	genome.wustl.edu	37	chr14	35872491	35872491	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcctcgaaagtctcggagctCaggatcacagccagctccca	9	15	3	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:35872491C>G	ENST00000216797.5	-	3	513	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	NFKBIA_ENST00000557140.1_Missense_Mutation_p.E138Q|NFKBIA_ENST00000557389.1_Missense_Mutation_p.E48Q|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	138					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	TCTCGGAGCTCAGGATCACAG	0.582																																																	0													100	105	103					14																	35872491		2203	4300	6503	SO:0001583	missense	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.412G>C	14.37:g.35872491C>G	ENSP00000216797:p.Glu138Gln		B2R8L6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E138Q	ENST00000216797.5	37	c.412	CCDS9656.1	14	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413940	0.62511	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.64618	-0.11;-0.11;-0.11	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.63426	0.2510	N	0.25825	0.765	0.44825	D	0.997837	D;P	0.53151	0.958;0.843	P;B	0.53649	0.731;0.162	T	0.55250	-0.8170	9	0.20519	T	0.43	-8.2846	20.6208	0.99490	0.0:1.0:0.0:0.0	.	138;138	G3V3I4;P25963	.;IKBA_HUMAN	Q	138;138;48	ENSP00000216797:E138Q;ENSP00000451257:E138Q;ENSP00000450514:E48Q	ENSP00000216797:E138Q	E	-	1	0	NFKBIA	34942242	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.941000	0.49011	2.882000	0.98803	0.655000	0.94253	GAG	NFKBIA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	C	NM_020529		35872491	-1	no_errors	ENST00000216797	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35872491	C	G	35872491	3	3	124	1	0	0	0	0	1	0	0	0	10401	835	29	1	557	1	NFKBIA	14	35872491	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	12636715	35872491	71477049	43	19415										
FAM179B	23116	genome.wustl.edu	37	chr14	45464961	45464961	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcttatagttttcaacatatGatttcatcccatctgcaaaa	3	9	4	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:45464961G>A	ENST00000361577.3	+	2	2273	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.D687N|FAM179B_ENST00000382233.2_Missense_Mutation_p.D687N	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	687										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTCAACATATGATTTCATCCC	0.274																																																	0													61	60	60					14																	45464961		2201	4297	6498	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2059G>A	14.37:g.45464961G>A	ENSP00000355045:p.Asp687Asn		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D687N	ENST00000361577.3	37	c.2059	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983215	0.74474	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.42	5.42	0.78866	Armadillo-type fold (1);	0.151334	0.44097	D	0.000498	T	0.04861	0.0131	L	0.27053	0.805	0.36892	D	0.889955	B;P;B;B	0.39759	0.42;0.687;0.2;0.42	B;B;B;B	0.39503	0.128;0.301;0.051;0.128	T	0.47071	-0.9145	10	0.45353	T	0.12	-11.187	11.4663	0.50241	0.084:0.0:0.916:0.0	.	687;687;687;687	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	N	687;687;687;687;6	ENSP00000355045:D687N;ENSP00000354917:D687N;ENSP00000371668:D687N;ENSP00000451141:D6N	ENSP00000354917:D687N	D	+	1	0	FAM179B	44534711	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.116000	0.57871	2.554000	0.86153	0.585000	0.79938	GAT	FAM179B	-	superfamily_ARM-type_fold		0.274	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	G	XM_113781		45464961	1	no_errors	ENST00000361577	ensembl	human	known	70_37	missense	SNP	0.993	A	A	45464961	G	A	45464961	3	1	124	1	0	0	0	0	1	0	0	0	5521	1290	45	1	2065	1	FAM179B	14	45464961	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	9592470	45464961	61884579	44	19416										
WDHD1	11169	genome.wustl.edu	37	chr14	55422403	55422403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcttttctggaaataggatgCtgcagatgcctataaaaaca	8	7	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:55422403C>A	ENST00000360586.3	-	24	2991	c.2926G>T	c.(2926-2928)Gca>Tca	p.A976S	WDHD1_ENST00000420358.2_Missense_Mutation_p.A853S|WDHD1_ENST00000421192.1_Missense_Mutation_p.A853S|WDHD1_ENST00000359167.4_Missense_Mutation_p.A494S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	976					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAATAGGATGCTGCAGATGCC	0.294																																																	0													66	66	66					14																	55422403		2203	4297	6500	SO:0001583	missense	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2926G>T	14.37:g.55422403C>A	ENSP00000353793:p.Ala976Ser		C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A976S	ENST00000360586.3	37	c.2926	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135877	0.37728	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.63913	0.29;0.78;-0.07	4.71	3.79	0.43588	.	0.763319	0.11901	N	0.518657	T	0.47783	0.1464	L	0.34521	1.04	0.31271	N	0.691728	B;B	0.27656	0.184;0.023	B;B	0.24974	0.057;0.011	T	0.44174	-0.9345	10	0.14252	T	0.57	.	10.7886	0.46419	0.0:0.9025:0.0:0.0975	.	494;976	F8W7P7;O75717	.;WDHD1_HUMAN	S	976;494;853	ENSP00000353793:A976S;ENSP00000352085:A494S;ENSP00000391049:A853S	ENSP00000352085:A494S	A	-	1	0	WDHD1	54492153	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.474000	0.45154	2.314000	0.78098	0.563000	0.77884	GCA	WDHD1	-	NULL		0.294	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	C	NM_007086		55422403	-1	no_errors	ENST00000360586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55422403	C	A	55422403	3	1	124	1	0	0	0	0	1	0	0	0	17302	797	28	4	475	4	WDHD1	14	55422403	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	9957442	55422403	51927137	45	19417										
FBXO34	55030	genome.wustl.edu	37	chr14	55818715	55818715	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gccatttgtactgccagcctCttctgtggaaagtacattac	8	11	2	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:55818715C>G	ENST00000313833.4	+	2	1852	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	FBXO34_ENST00000440021.1_Missense_Mutation_p.S536C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	536										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CTGCCAGCCTCTTCTGTGGAA	0.502																																																	0													128	125	126					14																	55818715		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1607C>G	14.37:g.55818715C>G	ENSP00000313159:p.Ser536Cys		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S536C	ENST00000313833.4	37	c.1607	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	C	6.780	0.512908	0.12944	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20069	2.1;2.1	5.49	2.71	0.32032	.	0.587434	0.14937	N	0.289747	T	0.28366	0.0701	M	0.62723	1.935	0.09310	N	1	D	0.60575	0.988	P	0.49752	0.621	T	0.09997	-1.0649	10	0.72032	D	0.01	-10.3532	8.0027	0.30306	0.1311:0.7331:0.0:0.1357	.	536	Q9NWN3	FBX34_HUMAN	C	536	ENSP00000313159:S536C;ENSP00000394117:S536C	ENSP00000313159:S536C	S	+	2	0	FBXO34	54888468	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.833000	0.39161	0.442000	0.26555	0.655000	0.94253	TCT	FBXO34	-	NULL		0.502	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	C			55818715	1	no_errors	ENST00000313833	ensembl	human	known	70_37	missense	SNP	0.001	G	G	55818715	C	G	55818715	3	3	124	1	0	0	0	0	1	0	0	0	5762	913	32	1	1609	1	FBXO34	14	55818715	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	396312	55818715	51530825	46	19418										
KIAA0317	9870	genome.wustl.edu	37	chr14	75151319	75151319	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tggaggaagctgactacacgTgcggcaagctcaaagaggaa	14	8	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:75151319T>A	ENST00000356357.4	-	4	596	c.81A>T	c.(79-81)gcA>gcT	p.A27A	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	27					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGACTACACGTGCGGCAAGCT	0.522																																																	0													52	51	51					14																	75151319		1982	4172	6154	SO:0001819	synonymous_variant	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.81A>T	14.37:g.75151319T>A			B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.A27	ENST00000356357.4	37	c.81	CCDS41971.1	14																																																																																			KIAA0317	-	NULL		0.522	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	T	NM_014821		75151319	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75151319	T	A	75151319	2	1	124	1	0	0	0	0	0	0	0	1	8187	1683	59	5		5	KIAA0317	14	75151319	Silent	SNP	T	TCGA-EX-A69L-01A-11D-A32I-09	19332604	75151319	32198221	47	19419										
MAGEL2	54551	genome.wustl.edu	37	chr15	23890185	23890185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gccagtcatgaaaggctagcGtgtggccacggctgtcctct	13	12	2	1	rs373945272		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr15:23890185G>A	ENST00000532292.1	-	1	990	c.896C>T	c.(895-897)aCg>aTg	p.T299M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	182					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAAGGCTAGCGTGTGGCCACG	0.622																																																	0								G	MET/THR	0,4310		0,0,2155	44	52	49		2705	-0.9	0	15		49	2,8570		0,2,4284	no	missense	MAGEL2	NM_019066.4	81	0,2,6439	AA,AG,GG		0.0233,0.0,0.0155	benign	902/1250	23890185	2,12880	2155	4286	6441	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.896C>T	15.37:g.23890185G>A	ENSP00000433433:p.Thr299Met			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T299M	ENST00000532292.1	37	c.896		15	.	.	.	.	.	.	.	.	.	.	G	0.629	-0.817964	0.02776	0.0	2.33E-4	ENSG00000254585	ENST00000532292	.	.	.	3.94	-0.886	0.10590	.	.	.	.	.	T	0.09291	0.0229	N	0.02539	-0.55	0.09310	N	1	.	.	.	.	.	.	T	0.32877	-0.9890	5	.	.	.	.	5.1425	0.14967	0.2651:0.4554:0.2795:0.0	.	.	.	.	C	331	.	.	R	-	1	0	MAGEL2	21441278	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.463000	0.06696	-0.154000	0.11118	0.655000	0.94253	CGC	MAGEL2	-	NULL		0.622	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	G	NM_019066		23890185	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.000	A	A	23890185	G	A	23890185	3	1	124	1	0	0	0	0	1	0	0	0	9212	1145	40	2	1048	2	MAGEL2	15	23890185	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		23890185	78641207	48	19420										
MGA	23269	genome.wustl.edu	37	chr15	42058656	42058656	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcaagcatagagatggaactGaggaaagtaacatcagctat	10	6	2	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr15:42058656G>T	ENST00000570161.1	+	23	8376	c.8376G>T	c.(8374-8376)ctG>ctT	p.L2792L	MGA_ENST00000389936.4_Silent_p.L2753L|MGA_ENST00000566586.1_Silent_p.L2583L|MGA_ENST00000545763.1_Silent_p.L2583L|MGA_ENST00000219905.7_Silent_p.L2792L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGATGGAACTGAGGAAAGTAA	0.403																																																	0													81	76	78					15																	42058656		1990	4171	6161	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8376G>T	15.37:g.42058656G>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L2792	ENST00000570161.1	37	c.8376	CCDS55959.1	15																																																																																			MGA	-	NULL		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42058656	1	no_errors	ENST00000219905	ensembl	human	known	70_37	silent	SNP	0.999	T	T	42058656	G	T	42058656	2	4	124	1	0	0	0	0	0	0	0	1	9563	1277	45	3		3	MGA	15	42058656	Silent	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	18168471	42058656	60472736	49	19421										
CIITA	4261	genome.wustl.edu	37	chr16	11009489	11009489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gcggatcctcacggccttttCctccctgcagcatctggagt	10	15	2	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr16:11009489C>T	ENST00000324288.8	+	14	3084	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	CIITA_ENST00000381835.5_Missense_Mutation_p.S400F	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	984			Missing (in BLS2).		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACGGCCTTTTCCTCCCTGCAG	0.572			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													96	89	92					16																	11009489		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2951C>T	16.37:g.11009489C>T	ENSP00000316328:p.Ser984Phe		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S984F	ENST00000324288.8	37	c.2951	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588064	0.46110	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.54675	0.56;0.56	4.6	3.63	0.41609	.	0.609926	0.15603	N	0.253816	T	0.63768	0.2539	L	0.46157	1.445	0.24816	N	0.992614	D;P;P	0.71674	0.998;0.952;0.923	D;P;P	0.68483	0.958;0.878;0.722	T	0.55003	-0.8208	10	0.66056	D	0.02	.	11.9598	0.53001	0.0:0.8253:0.1747:0.0	.	400;984;984	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	F	984;400	ENSP00000316328:S984F;ENSP00000371257:S400F	ENSP00000316328:S984F	S	+	2	0	CIITA	10916990	0.257000	0.24022	0.900000	0.35374	0.518000	0.34316	2.061000	0.41403	1.130000	0.42092	0.655000	0.94253	TCC	CIITA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.572	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	C	NM_000246		11009489	1	no_errors	ENST00000324288	ensembl	human	known	70_37	missense	SNP	0.967	T	T	11009489	C	T	11009489	3	4	124	1	0	0	0	0	1	0	0	0	3433	855	30	1	3005	1	CIITA	16	11009489	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		11009489	79345264	50	19422										
SH2B1	25970	genome.wustl.edu	37	chr16	28877623	28877623	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ccttctcccgccgttttgctGagctcttcctgcagcacttt	7	16	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr16:28877623G>C	ENST00000322610.8	+	4	647	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	RP11-22P6.2_ENST00000567731.1_RNA|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.E70Q|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.E70Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.E70Q			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	70	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for self-association.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCGTTTTGCTGAGCTCTTCCT	0.677																																																	0													23	25	24					16																	28877623		2197	4299	6496	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.208G>C	16.37:g.28877623G>C	ENSP00000321221:p.Glu70Gln		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.E70Q	ENST00000322610.8	37	c.208	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512091	0.44660	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.48522	0.81;0.81;0.82;0.82	4.71	4.71	0.59529	Phenylalanine zipper (2);	0.073308	0.52532	D	0.000061	T	0.39410	0.1077	N	0.08118	0	0.28945	N	0.890775	P;P;D	0.53619	0.952;0.952;0.961	P;P;P	0.51866	0.549;0.549;0.682	T	0.34750	-0.9816	10	0.33141	T	0.24	-16.8952	16.4238	0.83808	0.0:0.0:1.0:0.0	.	70;70;70	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	70	ENSP00000321221:E70Q;ENSP00000352232:E70Q;ENSP00000378903:E70Q;ENSP00000337163:E70Q	ENSP00000321221:E70Q	E	+	1	0	SH2B1	28785124	0.993000	0.37304	1.000000	0.80357	0.783000	0.44284	2.103000	0.41806	2.163000	0.67991	0.455000	0.32223	GAG	SH2B1	-	pfam_Phe_ZIP,superfamily_Phe_ZIP		0.677	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	G	NM_015503		28877623	1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28877623	G	C	28877623	3	2	124	1	0	0	0	0	1	0	0	0	14257	1291	45	1	210	1	SH2B1	16	28877623	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	17868134	28877623	61477130	51	19423										
GALNS	2588	genome.wustl.edu	37	chr16	88898465	88898465	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	aggctccctcatccctccttCaaacgtggtctgcttcccac	6	18	3	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr16:88898465C>G	ENST00000268695.5	-	9	1031	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	GALNS_ENST00000542788.1_Missense_Mutation_p.E240Q	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	315	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		ATCCCTCCTTCAAACGTGGTC	0.672																																					GBM(129;1929 2344 25209 33204)												0													90	68	76					16																	88898465		2198	4300	6498	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.943G>C	16.37:g.88898465C>G	ENSP00000268695:p.Glu315Gln		Q86VK3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E315Q	ENST00000268695.5	37	c.943	CCDS10970.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.277598	0.95459	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.95690	-3.78;-3.78	5.4	5.4	0.78164	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.94698	3.57	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.72338	0.977;0.928	D	0.99449	1.0940	10	0.87932	D	0	.	19.2326	0.93846	0.0:1.0:0.0:0.0	.	315;315	B2R6P1;P34059	.;GALNS_HUMAN	Q	315;240	ENSP00000268695:E315Q;ENSP00000438197:E240Q	ENSP00000268695:E315Q	E	-	1	0	GALNS	87425966	1.000000	0.71417	0.989000	0.46669	0.775000	0.43874	7.547000	0.82146	2.553000	0.86117	0.549000	0.68633	GAA	GALNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.672	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	C			88898465	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88898465	C	G	88898465	3	3	124	1	0	0	0	0	1	0	0	0	6225	835	29	1	649	1	GALNS	16	88898465	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	60020842	88898465	1456288	52	19424										
SHBG	6462	genome.wustl.edu	37	chr17	7533799	7533799	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	caagagcctatcgctgtcatGacctttgacctcaccaagat	7	13	2	4			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr17:7533799G>C	ENST00000380450.4	+	2	208	c.177G>C	c.(175-177)atG>atC	p.M59I	SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000340624.5_Start_Codon_SNP_p.M1I|SHBG_ENST00000572182.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000574539.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000570547.1_Start_Codon_SNP_p.M1I|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000575314.1_Start_Codon_SNP_p.M1I|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000576728.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000576478.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000416273.3_Missense_Mutation_p.M59I|SHBG_ENST00000572262.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000441599.2_Missense_Mutation_p.M59I|SHBG_ENST00000575903.1_Missense_Mutation_p.M59I	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	59	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	TCGCTGTCATGACCTTTGACC	0.537																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											140	125	130					17																	7533799		2203	4300	6503	SO:0001583	missense	6462				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.177G>C	17.37:g.7533799G>C	ENSP00000369816:p.Met59Ile		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.M59I	ENST00000380450.4	37	c.177	CCDS11117.1	17	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578782	0.28180	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	D;T;T;T	0.87809	-2.3;-1.16;-1.16;-1.16	4.48	3.51	0.40186	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.161565	0.56097	D	0.000040	D	0.83977	0.5371	M	0.72118	2.19	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.27656	0.099;0.099;0.013;0.038;0.033;0.067;0.024;0.024;0.184;0.06;0.024	B;B;B;B;B;B;B;B;B;B;B	0.22880	0.032;0.032;0.015;0.017;0.03;0.008;0.005;0.007;0.042;0.014;0.007	T	0.81070	-0.1099	10	0.62326	D	0.03	-5.7864	8.5355	0.33360	0.11:0.0:0.89:0.0	.	59;54;32;59;59;59;32;32;32;59;1	F5H5Z8;P04278-2;B0FWH6;E9PH59;E9PGW1;E9PGQ3;B0FWH7;B0FWH5;B0FWH4;P04278;B4DYU0	.;.;.;.;.;.;.;.;.;SHBG_HUMAN;.	I	1;59;59;59;59;59	ENSP00000345675:M1I;ENSP00000393426:M59I;ENSP00000388867:M59I;ENSP00000369816:M59I	ENSP00000345675:M1I	M	+	3	0	SHBG	7474524	0.179000	0.23135	0.414000	0.26521	0.416000	0.31233	0.272000	0.18644	0.881000	0.35993	0.561000	0.74099	ATG	SHBG	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.537	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	HGNC	protein_coding	OTTHUMT00000226957.2	G	NM_001040		7533799	1	no_errors	ENST00000380450	ensembl	human	known	70_37	missense	SNP	0.951	C	C	7533799	G	C	7533799	3	2	124	1	0	0	0	0	1	0	0	0	14299	1290	45	1	183	1	SHBG	17	7533799	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		7533799	73661411	53	19425										
DNAJC7	7266	genome.wustl.edu	37	chr17	40133891	40133891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	accacccatattcatgccctCctcatctaggtcctgtccac	4	18	3	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr17:40133891C>T	ENST00000457167.4	-	12	1602	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	DNAJC7_ENST00000316603.7_Missense_Mutation_p.E400K|DNAJC7_ENST00000426588.3_Missense_Mutation_p.E400K	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	456					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TTCATGCCCTCCTCATCTAGG	0.483																																					Colon(63;618 1117 8600 10857 19751)												0													148	140	143					17																	40133891		1965	4154	6119	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1366G>A	17.37:g.40133891C>T	ENSP00000406463:p.Glu456Lys		Q7Z784	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E456K	ENST00000457167.4	37	c.1366	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058011	0.76074	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.42900	1.22;0.96;0.96	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (2);	0.359114	0.32204	N	0.006427	T	0.25044	0.0608	N	0.08118	0	0.80722	D	1	B;B	0.13594	0.002;0.008	B;B	0.17098	0.01;0.017	T	0.13255	-1.0516	10	0.07325	T	0.83	-7.2285	19.3043	0.94155	0.0:1.0:0.0:0.0	.	400;456	Q7Z784;Q99615	.;DNJC7_HUMAN	K	456;400;400	ENSP00000406463:E456K;ENSP00000394327:E400K;ENSP00000313311:E400K	ENSP00000313311:E400K	E	-	1	0	DNAJC7	37387417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.548000	0.85928	0.655000	0.94253	GAG	DNAJC7	-	superfamily_DnaJ_N		0.483	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	C			40133891	-1	no_errors	ENST00000457167	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40133891	C	T	40133891	3	4	124	1	0	0	0	0	1	0	0	0	4664	864	30	1	130	1	DNAJC7	17	40133891	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	32600092	40133891	41061319	54	19426										
TBC1D16	125058	genome.wustl.edu	37	chr17	77921464	77921464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cagttgtttctccatgtcctCgtcccggggtgagctgacga	12	12	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr17:77921464C>G	ENST00000310924.2	-	9	1823	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	TBC1D16_ENST00000572862.1_Missense_Mutation_p.E208Q|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E209Q|TBC1D16_ENST00000340848.7_Missense_Mutation_p.E208Q|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E195Q	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	570	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCATGTCCTCGTCCCGGGGT	0.612																																					Ovarian(14;397 562 4850 31922 49378)												0													147	110	123					17																	77921464		2203	4300	6503	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1708G>C	17.37:g.77921464C>G	ENSP00000309794:p.Glu570Gln		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E570Q	ENST00000310924.2	37	c.1708	CCDS11766.1	17	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351949	0.41700	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04603	3.59;3.59	5.57	5.57	0.84162	Rab-GAP/TBC domain (5);	0.046101	0.85682	D	0.000000	T	0.05593	0.0147	N	0.11892	0.195	0.80722	D	1	B;P;P;B	0.35433	0.446;0.501;0.501;0.26	B;B;B;B	0.41571	0.36;0.337;0.337;0.185	T	0.57957	-0.7721	10	0.25751	T	0.34	-30.4184	19.5469	0.95302	0.0:1.0:0.0:0.0	.	230;570;570;208	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	Q	208;570	ENSP00000341517:E208Q;ENSP00000309794:E570Q	ENSP00000309794:E570Q	E	-	1	0	TBC1D16	75536059	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	7.472000	0.80996	2.619000	0.88677	0.561000	0.74099	GAG	TBC1D16	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.612	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	C	NM_019020		77921464	-1	no_errors	ENST00000310924	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77921464	C	G	77921464	3	3	124	1	0	0	0	0	1	0	0	0	15635	893	31	1	611	1	TBC1D16	17	77921464	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	37787573	77921464	3273746	55	19427										
METTL4	64863	genome.wustl.edu	37	chr18	2544664	2544664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tttcctacctcaatggtagaGcagttttttcttgaaccctc	6	11	2	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr18:2544664G>A	ENST00000574538.1	-	7	1944	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	METTL4_ENST00000319888.6_Missense_Mutation_p.A390V	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	390					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAATGGTAGAGCAGTTTTTTC	0.323																																																	0													105	100	102					18																	2544664		2203	4300	6503	SO:0001583	missense	64863				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1169C>T	18.37:g.2544664G>A	ENSP00000458290:p.Ala390Val		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.A390V	ENST00000574538.1	37	c.1169	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182393	0.09495	.	.	ENSG00000101574	ENST00000319888	T	0.23552	1.9	4.85	2.67	0.31697	.	0.918042	0.09175	N	0.838211	T	0.19525	0.0469	L	0.39245	1.2	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.28038	-1.0056	10	0.22109	T	0.4	-9.1932	6.4838	0.22077	0.1919:0.0:0.6559:0.1522	.	390	Q8N3J2	METL4_HUMAN	V	390	ENSP00000320349:A390V	ENSP00000320349:A390V	A	-	2	0	METTL4	2534664	0.003000	0.15002	0.621000	0.29145	0.951000	0.60555	0.565000	0.23578	1.025000	0.39708	0.591000	0.81541	GCT	METTL4	-	pfam_MT-A70-like,pfscan_MT-A70-like		0.323	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	G	NM_022840		2544664	-1	no_errors	ENST00000574538	ensembl	human	known	70_37	missense	SNP	0.102	A	A	2544664	G	A	2544664	3	1	124	1	0	0	0	0	1	0	0	0	9525	971	34	4	261	4	METTL4	18	2544664	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		2544664	75532584	56	19428										
CD70	970	genome.wustl.edu	37	chr19	6586084	6586084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctcatcagtgtttcgggaagGcaaaagtgtcccagtgaggt	13	8	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:6586084G>A	ENST00000245903.3	-	3	678	c.529C>T	c.(529-531)Cct>Tct	p.P177S	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	177					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TTTCGGGAAGGCAAAAGTGTC	0.517																																					Pancreas(183;2617 2876 10173 34193)												0													66	54	58					19																	6586084		2203	4300	6503	SO:0001583	missense	970			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11937	protein-coding gene	gene with protein product		602840	"tumor necrosis factor (ligand) superfamily, member 7"	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.529C>T	19.37:g.6586084G>A	ENSP00000245903:p.Pro177Ser		B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.P177S	ENST00000245903.3	37	c.529	CCDS12170.1	19	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957563	0.53400	.	.	ENSG00000125726	ENST00000245903	D	0.94138	-3.36	4.42	1.88	0.25563	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.285294	0.25154	N	0.032723	D	0.91327	0.7265	L	0.34521	1.04	0.09310	N	1	D	0.60575	0.988	P	0.56823	0.807	D	0.83652	0.0156	10	0.87932	D	0	.	6.6485	0.22949	0.0:0.2308:0.5815:0.1878	.	177	P32970	CD70_HUMAN	S	177	ENSP00000245903:P177S	ENSP00000245903:P177S	P	-	1	0	CD70	6537084	0.939000	0.31865	0.043000	0.18650	0.010000	0.07245	2.500000	0.45381	0.954000	0.37851	0.556000	0.70494	CCT	CD70	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF		0.517	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD70	HGNC	protein_coding	OTTHUMT00000457860.1	G			6586084	-1	no_errors	ENST00000245903	ensembl	human	known	70_37	missense	SNP	0.017	A	A	6586084	G	A	6586084	3	1	124	1	0	0	0	0	1	0	0	0	3038	1203	42	4	56	4	CD70	19	6586084	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		6586084	52542899	57	19429										
NOTCH3	4854	genome.wustl.edu	37	chr19	15295256	15295256	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gtccacatcctgctggcatcGtgggcctgggggtagggagc	17	11	0	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:15295256G>A	ENST00000263388.2	-	16	2491	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	806	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCTGGCATCGTGGGCCTGGG	0.627																																																	0													53	48	49					19																	15295256		2203	4300	6503	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2416C>T	19.37:g.15295256G>A	ENSP00000263388:p.Arg806*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.R806*	ENST00000263388.2	37	c.2416	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	38	7.212215	0.98139	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	4.13	0.48395	.	0.000000	0.26899	N	0.021922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	14.0281	0.64597	0.0:0.0:0.8475:0.1525	.	.	.	.	X	806	.	ENSP00000263388:R806X	R	-	1	2	NOTCH3	15156256	0.000000	0.05858	0.803000	0.32268	0.495000	0.33615	0.507000	0.22675	1.161000	0.42604	0.655000	0.94253	CGA	NOTCH3	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15295256	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonsense	SNP	0.115	A	A	15295256	G	A	15295256	4	1	124	1	0	0	0	0	0	1	0	0	10574	1153	40	2	4621	2	NOTCH3	19	15295256	Nonsense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	8709172	15295256	43833727	58	19430										
CHST8	64377	genome.wustl.edu	37	chr19	34263476	34263476	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctctttgtccgcgagcccttCgagaggctggtgtccgcctt	12	14	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:34263476C>T	ENST00000262622.4	+	4	1541	c.783C>T	c.(781-783)ttC>ttT	p.F261F	CHST8_ENST00000434302.1_Silent_p.F261F|CHST8_ENST00000438847.3_Silent_p.F261F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	261					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCGAGCCCTTCGAGAGGCTGG	0.612																																																	0													103	96	98					19																	34263476		2203	4300	6503	SO:0001819	synonymous_variant	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.783C>T	19.37:g.34263476C>T			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.F261	ENST00000262622.4	37	c.783	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase		0.612	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	C	NM_022467		34263476	1	no_errors	ENST00000262622	ensembl	human	known	70_37	silent	SNP	0.997	T	T	34263476	C	T	34263476	2	4	124	1	0	0	0	0	0	0	0	1	3415	883	31	1		1	CHST8	19	34263476	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	18968220	34263476	24865507	59	19431										
ETV2	2116	genome.wustl.edu	37	chr19	36134313	36134313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ccatccccgccgccggctccGaaggcgccgcgggccagaac	13	20	0	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:36134313G>A	ENST00000403402.1	+	4	679	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.E153K|ETV2_ENST00000402764.2_Missense_Mutation_p.E125K|ETV2_ENST00000479824.1_Missense_Mutation_p.E32K			O00321	ETV2_HUMAN	ets variant 2	125					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCGGCTCCGAAGGCGCCGC	0.751																																																	0													2	3	3					19																	36134313		1584	3292	4876	SO:0001583	missense	2116			AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.373G>A	19.37:g.36134313G>A	ENSP00000385369:p.Glu125Lys		A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E125K	ENST00000403402.1	37	c.373	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	g	16.71	3.198503	0.58126	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.21932	1.98;1.99;1.99	4.84	1.53	0.23141	.	53.534100	0.00166	N	0.000000	T	0.12092	0.0294	N	0.24115	0.695	0.09310	N	1	P;P;P	0.43352	0.804;0.804;0.804	B;B;B	0.27170	0.062;0.077;0.062	T	0.23833	-1.0177	10	0.56958	D	0.05	.	4.7388	0.13003	0.1939:0.179:0.6272:0.0	.	124;153;125	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	K	153;125;125;125	ENSP00000368312:E153K;ENSP00000384524:E125K;ENSP00000385369:E125K	ENSP00000368307:E125K	E	+	1	0	ETV2	40826153	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.927000	0.28818	0.255000	0.21593	0.556000	0.70494	GAA	ETV2	-	NULL		0.751	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	HGNC	protein_coding	OTTHUMT00000318848.2	G	XM_209182		36134313	1	no_errors	ENST00000402764	ensembl	human	known	70_37	missense	SNP	0.000	A	A	36134313	G	A	36134313	3	1	124	1	0	0	0	0	1	0	0	0	5290	1059	37	1	387	1	ETV2	19	36134313	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	1870837	36134313	22994670	60	19432										
IRGQ	126298	genome.wustl.edu	37	chr19	44096997	44096997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	cctgcgttctttaagctctcGcccttgggattctccatctt	7	14	4	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:44096997G>A	ENST00000602269.1	-	2	1238	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	IRGQ_ENST00000422989.1_Silent_p.G351G|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	351	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTAAGCTCTCGCCCTTGGGAT	0.587																																																	0													223	218	220					19																	44096997		2203	4300	6503	SO:0001819	synonymous_variant	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1053C>T	19.37:g.44096997G>A			B2RNP3	Silent	SNP	NULL	p.G351	ENST00000602269.1	37	c.1053	CCDS33040.1	19																																																																																			IRGQ	-	NULL		0.587	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	G	NM_001007561		44096997	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44096997	G	A	44096997	2	1	124	1	0	0	0	0	0	0	0	1	7859	1074	38	2		2	IRGQ	19	44096997	Silent	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	7962684	44096997	15031986	61	19433										
NUCB1	4924	genome.wustl.edu	37	chr19	49404117	49404117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tgctgctgctgctcctgcttCgcgccgtgctggctgtcccc	12	17	0	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:49404117C>T	ENST00000405315.4	+	2	398	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.R22C|TULP2_ENST00000221399.3_5'Flank|NUCB1_ENST00000263273.5_Missense_Mutation_p.R22C	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	22						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		gctcctgctTCGCGCCGTGCT	0.667																																																	0													57	47	50					19																	49404117		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.64C>T	19.37:g.49404117C>T	ENSP00000385923:p.Arg22Cys		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R22C	ENST00000405315.4	37	c.64	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732303	0.15507	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273	T;T;T	0.17854	2.25;2.25;2.25	4.08	3.04	0.35103	.	0.726183	0.12968	N	0.424399	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	D;P	0.56968	0.978;0.946	B;B	0.31390	0.129;0.129	T	0.21518	-1.0243	10	0.37606	T	0.19	.	7.0694	0.25169	0.0:0.8749:0.0:0.1251	.	22;22	Q02818;Q53GX6	NUCB1_HUMAN;.	C	22	ENSP00000385923:R22C;ENSP00000385211:R22C;ENSP00000263273:R22C	ENSP00000263273:R22C	R	+	1	0	NUCB1	54095929	0.001000	0.12720	0.142000	0.22268	0.011000	0.07611	-0.005000	0.12855	1.269000	0.44280	0.549000	0.68633	CGC	NUCB1	-	NULL		0.667	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	C	NM_006184		49404117	1	no_errors	ENST00000263273	ensembl	human	known	70_37	missense	SNP	0.162	T	T	49404117	C	T	49404117	3	4	124	1	0	0	0	0	1	0	0	0	10742	884	31	1	66	1	NUCB1	19	49404117	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	5307120	49404117	9724866	62	19434										
LILRA4	23547	genome.wustl.edu	37	chr19	54848713	54848713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gtcactgggggccgaccactCggaggagacgttgtgtgcgc	17	11	1	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:54848713C>T	ENST00000291759.4	-	5	966	c.910G>A	c.(910-912)Gag>Aag	p.E304K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	304	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCCGACCACTCGGAGGAGACG	0.682																																																	0													30	31	31					19																	54848713		2202	4299	6501	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.910G>A	19.37:g.54848713C>T	ENSP00000291759:p.Glu304Lys		Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.E304K	ENST00000291759.4	37	c.910	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	9.106	1.005450	0.19199	.	.	ENSG00000239961	ENST00000291759	T	0.12879	2.64	2.69	-5.39	0.02664	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.590770	0.01049	N	0.004426	T	0.13457	0.0326	M	0.62154	1.92	0.09310	N	1	B	0.22276	0.067	B	0.23275	0.045	T	0.20207	-1.0282	10	0.45353	T	0.12	.	2.1657	0.03836	0.1463:0.1992:0.4351:0.2194	.	304	P59901	LIRA4_HUMAN	K	304	ENSP00000291759:E304K	ENSP00000291759:E304K	E	-	1	0	LILRA4	59540525	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.088000	0.01359	-1.550000	0.01708	-1.281000	0.01382	GAG	LILRA4	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.682	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	C	NM_012276		54848713	-1	no_errors	ENST00000291759	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54848713	C	T	54848713	3	4	124	1	0	0	0	0	1	0	0	0	8807	893	31	1	605	1	LILRA4	19	54848713	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	5444596	54848713	4280270	63	19435										
SLC27A5	10998	genome.wustl.edu	37	chr19	59010279	59010279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ccatgcccaccttaccctcaCaacctagagagcagtctggt	7	16	2	1	rs138205034		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:59010279C>G	ENST00000263093.2	-	9	1878	c.1769G>C	c.(1768-1770)tGt>tCt	p.C590S	SLC27A5_ENST00000599700.1_Intron|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.C506S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	590					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTTACCCTCACAACCTAGAGA	0.627																																																	0													50	50	50					19																	59010279		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1769G>C	19.37:g.59010279C>G	ENSP00000263093:p.Cys590Ser		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.C590S	ENST00000263093.2	37	c.1769	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644242	0.47258	.	.	ENSG00000083807	ENST00000263093	T	0.46819	0.86	4.99	3.94	0.45596	.	0.222466	0.48286	D	0.000187	T	0.38427	0.1040	L	0.40543	1.245	0.36613	D	0.875314	P	0.41710	0.76	B	0.43331	0.416	T	0.30822	-0.9965	10	0.23302	T	0.38	-13.1806	8.633	0.33930	0.0:0.8966:0.0:0.1034	.	590	Q9Y2P5	S27A5_HUMAN	S	590	ENSP00000263093:C590S	ENSP00000263093:C590S	C	-	2	0	SLC27A5	63702091	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.487000	0.53222	2.470000	0.83445	0.650000	0.86243	TGT	SLC27A5	-	NULL		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59010279	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59010279	C	G	59010279	3	3	124	1	0	0	0	0	1	0	0	0	14559	478	17	4	311	4	SLC27A5	19	59010279	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	4161566	59010279	118704	64	19436										
CST4	1472	genome.wustl.edu	37	chr20	23666568	23666568	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tggaattcaccagggacattCtgtcctcccagggaacttcg	10	12	2	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:23666568C>T	ENST00000217423.3	-	3	459	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	130					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CAGGGACATTCTGTCCTCCCA	0.547																																																	0													108	99	102					20																	23666568		2203	4300	6503	SO:0001583	missense	1472				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.389G>A	20.37:g.23666568C>T	ENSP00000217423:p.Arg130Lys		Q9UBI5|Q9UCS9	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R130K	ENST00000217423.3	37	c.389	CCDS13159.1	20	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.735665	0.00681	.	.	ENSG00000101441	ENST00000217423	T	0.12569	2.67	1.94	-0.703	0.11261	Proteinase inhibitor I25, cystatin (1);	1.144480	0.06519	N	0.739312	T	0.03095	0.0091	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.02654	T	1	.	3.2987	0.06975	0.0:0.2401:0.3861:0.3738	.	130	P01036	CYTS_HUMAN	K	130	ENSP00000217423:R130K	ENSP00000217423:R130K	R	-	2	0	CST4	23614568	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.815000	0.00752	-0.151000	0.11176	0.205000	0.17691	AGA	CST4	-	smart_Prot_inh_cystat		0.547	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST4	HGNC	protein_coding	OTTHUMT00000078349.2	C	NM_001899		23666568	-1	no_errors	ENST00000217423	ensembl	human	known	70_37	missense	SNP	0.001	T	T	23666568	C	T	23666568	3	4	124	1	0	0	0	0	1	0	0	0	3979	913	32	1	40	1	CST4	20	23666568	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		23666568	39358952	65	19437										
DYNLRB1	83658	genome.wustl.edu	37	chr20	33128384	33128384	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tttcatttttctcttttgcaGataaagactatttcctgatt	4	7	2	3			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:33128384G>T	ENST00000357156.2	+	4	297		c.e4-1		DYNLRB1_ENST00000480759.1_Splice_Site|DYNLRB1_ENST00000374846.3_Splice_Site	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CTCTTTTGCAGATAAAGACTA	0.333																																																	0													69	65	66					20																	33128384		2203	4300	6503	SO:0001630	splice_region_variant	83658			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.248-1G>T	20.37:g.33128384G>T			B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Splice_Site	SNP	-	e4-1	ENST00000357156.2	37	c.248-1	CCDS13235.1	20	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591067	0.86851	.	.	ENSG00000125971	ENST00000357156;ENST00000374846	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2174	0.93783	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNLRB1	32592045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.894000	0.92506	2.616000	0.88540	0.655000	0.94253	.	DYNLRB1	-	-		0.333	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	G	NM_014183	Intron	33128384	1	no_errors	ENST00000357156	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	33128384	G	T	33128384	5	4	124	1	0	0	0	0	0	0	1	0	4860	956	33	3	261	3	DYNLRB1	20	33128384	Splice_Site	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	9461816	33128384	29897136	66	19438										
ADA	100	genome.wustl.edu	37	chr20	43255112	43255112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctcactcagcctggttccagGggattggctccactttggag	12	12	2	0			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:43255112G>A	ENST00000372874.4	-	4	481	c.347C>T	c.(346-348)cCc>cTc	p.P116L	ADA_ENST00000537820.1_Missense_Mutation_p.P116L|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	116					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTGGTTCCAGGGGATTGGCTC	0.592									Adenosine Deaminase Deficiency																																								0													124	92	103					20																	43255112		2203	4300	6503	SO:0001583	missense	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.347C>T	20.37:g.43255112G>A	ENSP00000361965:p.Pro116Leu		Q53F92|Q6LA59	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.P116L	ENST00000372874.4	37	c.347	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484011	0.63962	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.95885	-3.84;-3.84	5.16	5.16	0.70880	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.73598	2.24	0.80722	D	1	B	0.33198	0.401	P	0.51582	0.674	D	0.97448	1.0026	10	0.72032	D	0.01	-6.7379	19.0171	0.92899	0.0:0.0:1.0:0.0	.	116	P00813	ADA_HUMAN	L	116	ENSP00000361965:P116L;ENSP00000441818:P116L	ENSP00000361965:P116L	P	-	2	0	ADA	42688526	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	6.018000	0.70811	2.561000	0.86390	0.655000	0.94253	CCC	ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase		0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	G	NM_000022		43255112	-1	no_errors	ENST00000372874	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43255112	G	A	43255112	3	1	124	1	0	0	0	0	1	0	0	0	230	1232	43	4	780	4	ADA	20	43255112	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	10126728	43255112	19770408	67	19439										
PREX1	57580	genome.wustl.edu	37	chr20	47361648	47361648	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ggcggccaagaaatccttatGaacttccaggatgtcttcga	10	10	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:47361648G>A	ENST00000371941.3	-	3	350	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	PREX1_ENST00000396220.1_Missense_Mutation_p.H110Y	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	110	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAATCCTTATGAACTTCCAGG	0.493																																																	0													160	165	163					20																	47361648		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.328C>T	20.37:g.47361648G>A	ENSP00000361009:p.His110Tyr		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H110Y	ENST00000371941.3	37	c.328	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553070	0.86127	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.74002	-0.8;-0.8	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.000000	0.51477	U	0.000099	D	0.91030	0.7178	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93930	0.7213	10	0.87932	D	0	.	18.0488	0.89341	0.0:0.0:1.0:0.0	.	110	Q8TCU6	PREX1_HUMAN	Y	110	ENSP00000361009:H110Y;ENSP00000379522:H110Y	ENSP00000361009:H110Y	H	-	1	0	PREX1	46795055	1.000000	0.71417	0.875000	0.34327	0.860000	0.49131	8.780000	0.91799	2.589000	0.87451	0.655000	0.94253	CAT	PREX1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.493	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47361648	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47361648	G	A	47361648	3	1	124	1	0	0	0	0	1	0	0	0	12503	1290	45	1	4803	1	PREX1	20	47361648	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	4106536	47361648	15663872	68	19440										
SRMS	6725	genome.wustl.edu	37	chr20	62178640	62178640	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	caccgcgccgtgaagtcataGagcgcaaggaagagctgagg	15	10	1	4	rs36032098		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:62178640G>C	ENST00000217188.1	-	1	217	c.177C>G	c.(175-177)ctC>ctG	p.L59L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	59	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGAAGTCATAGAGCGCAAGGA	0.697																																																	0													168	169	168					20																	62178640		2188	4266	6454	SO:0001819	synonymous_variant	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.177C>G	20.37:g.62178640G>C				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L59	ENST00000217188.1	37	c.177	CCDS13525.1	20																																																																																			SRMS	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	G	NM_080823		62178640	-1	no_errors	ENST00000217188	ensembl	human	known	70_37	silent	SNP	0.454	C	C	62178640	G	C	62178640	2	2	124	1	0	0	0	0	0	0	0	1	15182	929	33	1		1	SRMS	20	62178640	Silent	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	14816992	62178640	846880	69	19441										
U2AF1	7307	genome.wustl.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2	rs371769427		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe		Q701P4|Q71RF1	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1	-	pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	G	NM_006758		44524456	-1	no_errors	ENST00000291552	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	124	1	0	0	0	0	1	0	0	0	16852	942	33	1	720	1	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09		44524456	3605439	70	19442										
MPST	4357	genome.wustl.edu	37	chr22	37420682	37420682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctgcgccagaacctcccgctCagctccggcaagagccaacc	9	19	1	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr22:37420682C>T	ENST00000397225.2	+	2	1341	c.426C>T	c.(424-426)ctC>ctT	p.L142L	MPST_ENST00000404802.3_Silent_p.L142L|MPST_ENST00000404393.1_Silent_p.L142L|MPST_ENST00000397129.1_Silent_p.L162L|MPST_ENST00000429360.2_Silent_p.L142L|MPST_ENST00000401419.3_Silent_p.L142L|MPST_ENST00000341116.3_Silent_p.L142L			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	142	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						ACCTCCCGCTCAGCTCCGGCA	0.672																																																	0													12	13	13					22																	37420682		2196	4287	6483	SO:0001819	synonymous_variant	4357			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"human liver rhodanese"	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.426C>T	22.37:g.37420682C>T			A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Silent	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.L162	ENST00000397225.2	37	c.486	CCDS13939.1	22																																																																																			MPST	-	superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.672	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MPST	HGNC	protein_coding	OTTHUMT00000318832.1	C	NM_001013440		37420682	1	no_errors	ENST00000397129	ensembl	human	known	70_37	silent	SNP	0.582	T	T	37420682	C	T	37420682	2	4	124	1	0	0	0	0	0	0	0	1	9767	813	29	1		1	MPST	22	37420682	Silent	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		37420682	13883884	71	19443										
MXRA5	25878	genome.wustl.edu	37	chrX	3242249	3242249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	caactggcatggacccccttCcaggacagtctgatctcttt	8	14	2	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:3242249C>T	ENST00000217939.6	-	5	1631	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	493	Ig-like C2-type 1.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGACCCCCTTCCAGGACAGTC	0.517																																																	0													114	102	106					X																	3242249		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1477G>A	X.37:g.3242249C>T	ENSP00000217939:p.Glu493Lys		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E493K	ENST00000217939.6	37	c.1477	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	7.162	0.585940	0.13749	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.33438	1.41	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181905	0.26055	U	0.026616	T	0.27489	0.0675	L	0.60845	1.875	0.23984	N	0.996264	B	0.25272	0.122	B	0.25884	0.064	T	0.14448	-1.0472	10	0.21014	T	0.42	.	9.9276	0.41503	0.0:0.8956:0.0:0.1044	.	493	Q9NR99	MXRA5_HUMAN	K	493	ENSP00000217939:E493K	ENSP00000217939:E493K	E	-	1	0	MXRA5	3252249	0.993000	0.37304	0.101000	0.21167	0.046000	0.14306	2.917000	0.48821	1.439000	0.47511	0.431000	0.28591	GAA	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3242249	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.922	T	T	3242249	C	T	3242249	3	4	124	1	0	0	0	0	1	0	0	0	10026	864	30	1	7021	1	MXRA5	23	3242249	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09		3242249	152028311	72	19444										
GUCY2F	2986	genome.wustl.edu	37	chrX	108696806	108696806	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	gggcctgccaccagggaagtGaataggggtccctccgaaac	14	12	0	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:108696806G>A	ENST00000218006.2	-	4	1606	c.1315C>T	c.(1315-1317)Cac>Tac	p.H439Y		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	439					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAGGGAAGTGAATAGGGGTC	0.488																																																	0													133	99	111					X																	108696806		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1315C>T	X.37:g.108696806G>A	ENSP00000218006:p.His439Tyr		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.H439Y	ENST00000218006.2	37	c.1315	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776434	0.49786	.	.	ENSG00000101890	ENST00000218006	T	0.74526	-0.85	3.97	3.11	0.35812	.	0.048554	0.85682	N	0.000000	T	0.68007	0.2954	M	0.72894	2.215	0.51482	D	0.999924	P	0.42827	0.791	B	0.39299	0.296	T	0.63571	-0.6607	10	0.20046	T	0.44	.	8.7795	0.34783	0.1162:0.0:0.8838:0.0	.	439	P51841	GUC2F_HUMAN	Y	439	ENSP00000218006:H439Y	ENSP00000218006:H439Y	H	-	1	0	GUCY2F	108583462	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	1.800000	0.38833	1.028000	0.39785	0.506000	0.49869	CAC	GUCY2F	-	NULL		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108696806	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108696806	G	A	108696806	3	1	124	1	0	0	0	0	1	0	0	0	6918	1290	45	1	2075	1	GUCY2F	23	108696806	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	105454557	108696806	46573754	73	19445										
RNF113A	7737	genome.wustl.edu	37	chrX	119004829	119004829	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	ctcatcatcgcttcccacttCatagttttcatcctcataga	3	14	5	1			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:119004829C>G	ENST00000371442.2	-	1	962	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	250							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTTCCCACTTCATAGTTTTCA	0.468																																																	0													130	118	122					X																	119004829		2203	4300	6503	SO:0001583	missense	7737			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.748G>C	X.37:g.119004829C>G	ENSP00000360497:p.Glu250Gln		B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.E250Q	ENST00000371442.2	37	c.748	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093675	0.76870	.	.	ENSG00000125352	ENST00000371442	T	0.35605	1.3	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.80508	2.5	0.58432	D	0.999998	D	0.69078	0.997	P	0.58391	0.838	T	0.62215	-0.6901	10	0.59425	D	0.04	-19.3287	13.3679	0.60696	0.0:0.8451:0.1549:0.0	.	250	O15541	R113A_HUMAN	Q	250	ENSP00000360497:E250Q	ENSP00000360497:E250Q	E	-	1	0	RNF113A	118888857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	1.167000	0.42706	0.600000	0.82982	GAA	RNF113A	-	NULL		0.468	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	C	NM_006978		119004829	-1	no_errors	ENST00000371442	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119004829	C	G	119004829	3	3	124	1	0	0	0	0	1	0	0	0	13457	835	29	1	287	1	RNF113A	23	119004829	Missense_Mutation	SNP	C	TCGA-EX-A69L-01A-11D-A32I-09	10308023	119004829	36265731	74	19446										
PLXNA3	55558	genome.wustl.edu	37	chrX	153698895	153698895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.453333333333333	34	1.27114039451828e-12	3.81498829039813	5.13340336134454	3.17185898749744	0.484367169012616	0.713852813852814	25	atgttcgacttcctggatgaGcaggcggaccagcgccagat	13	11	0	2			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:153698895G>T	ENST00000369682.3	+	30	5272	c.5097G>T	c.(5095-5097)gaG>gaT	p.E1699D	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1699					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGATGAGCAGGCGGACC	0.617																																																	0													94	84	88					X																	153698895		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5097G>T	X.37:g.153698895G>T	ENSP00000358696:p.Glu1699Asp		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1699D	ENST00000369682.3	37	c.5097	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766710	0.49574	.	.	ENSG00000130827	ENST00000369682	T	0.12879	2.64	5.21	3.41	0.39046	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.35542	1.07	0.52501	D	0.999955	P	0.45902	0.868	P	0.52758	0.708	T	0.11591	-1.0581	10	0.23891	T	0.37	.	6.6588	0.23002	0.3939:0.0:0.6061:0.0	.	1699	P51805	PLXA3_HUMAN	D	1699	ENSP00000358696:E1699D	ENSP00000358696:E1699D	E	+	3	2	PLXNA3	153352089	0.999000	0.42202	0.998000	0.56505	0.808000	0.45660	0.462000	0.21956	0.405000	0.25532	-0.297000	0.09499	GAG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153698895	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153698895	G	T	153698895	3	4	124	1	0	0	0	0	1	0	0	0	12145	962	34	4	5211	4	PLXNA3	23	153698895	Missense_Mutation	SNP	G	TCGA-EX-A69L-01A-11D-A32I-09	34694066	153698895	1571665	75	19447										
EPHA2	1969	genome.wustl.edu	37	chr1	16464648	16464648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	caccttggcacccatgcccaCggctgtgaggtagtgtgggg	15	12	0	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:16464648C>T	ENST00000358432.5	-	5	1166	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	338	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CCCATGCCCACGGCTGTGAGG	0.677																																																	0													23	23	23					1																	16464648		2201	4298	6499	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1012G>A	1.37:g.16464648C>T	ENSP00000351209:p.Val338Met		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V338M	ENST00000358432.5	37	c.1012	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907415	0.33628	.	.	ENSG00000142627	ENST00000358432	T	0.57595	0.39	4.97	0.174	0.15040	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.956335	0.08606	N	0.920724	T	0.35480	0.0933	L	0.28192	0.835	0.24087	N	0.995922	B;B	0.24823	0.112;0.084	B;B	0.21708	0.016;0.036	T	0.32241	-0.9914	10	0.59425	D	0.04	.	4.1656	0.10305	0.1631:0.4973:0.0:0.3396	.	338;338	B5A968;P29317	.;EPHA2_HUMAN	M	338	ENSP00000351209:V338M	ENSP00000351209:V338M	V	-	1	0	EPHA2	16337235	0.000000	0.05858	0.685000	0.30070	0.956000	0.61745	-0.419000	0.07071	0.206000	0.20587	0.561000	0.74099	GTG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16464648	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	0.166	T	T	16464648	C	T	16464648	3	4	125	1	0	0	0	0	1	0	0	0	5179	536	19	2	1970	2	EPHA2	1	16464648	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		16464648	232785973	1	19448										
SLC9A1	6548	genome.wustl.edu	37	chr1	27440643	27440643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gatgggcggcagcaggaagaGgaagaagacgtcggactgca	18	7	0	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:27440643G>A	ENST00000263980.3	-	2	1062	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	SLC9A1_ENST00000374086.3_Missense_Mutation_p.L163F|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	163					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGCAGGAAGAGGAAGAAGACG	0.632																																																	0													72	69	70					1																	27440643		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.487C>T	1.37:g.27440643G>A	ENSP00000263980:p.Leu163Phe		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L163F	ENST00000263980.3	37	c.487	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262820	0.59431	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.15834	2.39;2.39	5.8	4.89	0.63831	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	L	0.39566	1.225	0.80722	D	1	B;B	0.26400	0.057;0.148	B;B	0.30782	0.081;0.12	T	0.03403	-1.1040	10	0.33940	T	0.23	.	13.8226	0.63331	0.0732:0.0:0.9268:0.0	.	163;163	P19634-2;P19634	.;SL9A1_HUMAN	F	163	ENSP00000263980:L163F;ENSP00000363199:L163F	ENSP00000263980:L163F	L	-	1	0	SLC9A1	27313230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.716000	0.74702	1.463000	0.47967	0.655000	0.94253	CTC	SLC9A1	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.632	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27440643	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27440643	G	A	27440643	3	1	125	1	0	0	0	0	1	0	0	0	14739	1000	35	4	2004	4	SLC9A1	1	27440643	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	10975995	27440643	221809978	2	19449										
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	76779548	76779548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ccttttcctgctggttgtgcGtcttgtaaatgaagtgaatt	10	7	1	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:76779548G>A	ENST00000328299.3	+	2	225	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	26					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTGGTTGTGCGTCTTGTAAAT	0.413																																																	0													215	188	197					1																	76779548		2203	4300	6503	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.77G>A	1.37:g.76779548G>A	ENSP00000329214:p.Arg26His		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R26H	ENST00000328299.3	37	c.77	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789456	0.70337	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30714	1.52	5.26	4.34	0.51931	.	0.360211	0.31673	N	0.007242	T	0.07773	0.0195	N	0.14661	0.345	0.39504	D	0.968258	B;B	0.15719	0.004;0.014	B;B	0.12156	0.001;0.007	T	0.12734	-1.0536	10	0.15499	T	0.54	-35.0948	12.3621	0.55209	0.0815:0.0:0.9185:0.0	.	26;26	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	H	26;26;25	ENSP00000329214:R26H	ENSP00000329214:R26H	R	+	2	0	ST6GALNAC3	76552136	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.754000	0.55189	2.462000	0.83206	0.491000	0.48974	CGT	ST6GALNAC3	-	NULL		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	G	NM_152996		76779548	1	no_errors	ENST00000328299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76779548	G	A	76779548	3	1	125	1	0	0	0	0	1	0	0	0	15255	1145	40	2	83	2	ST6GALNAC3	1	76779548	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	49338905	76779548	172471073	3	19450										
WDR63	126820	genome.wustl.edu	37	chr1	85555822	85555822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	atatcctaaaaatgctactaCgcaatattatccaagagaat	4	8	0	1	rs149091067		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:85555822C>T	ENST00000294664.6	+	8	944	c.764C>T	c.(763-765)aCg>aTg	p.T255M	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	255										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AATGCTACTACGCAATATTAT	0.318													C|||	1	0.000199681	0	0	5008	,	,		12828	0		0	False		,,,				2504	0.001																0								C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	45	47	46		764	2.2	0	1	dbSNP_134	46	3,8569	3.0+/-9.4	0,3,4283	yes	missense	WDR63	NM_145172.3	81	0,4,6484	TT,TC,CC		0.035,0.0227,0.0308	probably-damaging	255/892	85555822	4,12972	2202	4286	6488	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.764C>T	1.37:g.85555822C>T	ENSP00000294664:p.Thr255Met		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.T255M	ENST00000294664.6	37	c.764	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360231	0.41801	2.27E-4	3.5E-4	ENSG00000162643	ENST00000294664	T	0.46819	0.86	5.63	2.25	0.28309	.	0.103719	0.64402	D	0.000004	T	0.48995	0.1531	M	0.78223	2.4	0.21822	N	0.999526	D	0.76494	0.999	P	0.59424	0.857	T	0.42565	-0.9444	10	0.48119	T	0.1	-12.7912	11.9077	0.52721	0.0:0.7721:0.0:0.2279	.	255	Q8IWG1	WDR63_HUMAN	M	255	ENSP00000294664:T255M	ENSP00000294664:T255M	T	+	2	0	WDR63	85328410	0.865000	0.29922	0.013000	0.15412	0.618000	0.37518	1.776000	0.38594	0.711000	0.32018	0.591000	0.81541	ACG	WDR63	-	NULL		0.318	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	C	NM_145172		85555822	1	no_errors	ENST00000294664	ensembl	human	known	70_37	missense	SNP	0.114	T	T	85555822	C	T	85555822	3	4	125	1	0	0	0	0	1	0	0	0	17345	536	19	2	790	2	WDR63	1	85555822	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	8776274	85555822	163694799	4	19451										
KIAA1804	84451	genome.wustl.edu	37	chr1	233482309	233482309	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	agcacagcaggcacctatgcCtggatggcccccgaagtgat	12	13	0	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:233482309C>A	ENST00000366624.3	+	2	1188	c.927C>A	c.(925-927)gcC>gcA	p.A309A	MLK4_ENST00000366623.3_Silent_p.A309A	NM_032435.2	NP_115811.2																					GCACCTATGCCTGGATGGCCC	0.478																																																	0													94	89	91					1																	233482309		2203	4300	6503	SO:0001819	synonymous_variant	84451																														ENST00000366624.3:c.927C>A	1.37:g.233482309C>A				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.A309	ENST00000366624.3	37	c.927	CCDS1598.1	1																																																																																			MLK4	-	pirsf_MAPKKK9/10/11,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		0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233482309	1	no_errors	ENST00000366624	ensembl	human	known	70_37	silent	SNP	0.991	A	A	233482309	C	A	233482309	2	1	125	1	0	0	0	0	0	0	0	1	8279	668	24	4		4	KIAA1804	1	233482309	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	147926487	233482309	15768312	5	19452										
GDF7	151449	genome.wustl.edu	37	chr2	20870986	20870986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cgagggcctttgcgacttccCtttgcgttcgcacctcgagc	11	15	0	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:20870986C>A	ENST00000272224.3	+	2	1730	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	385					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGACTTCCCTTTGCGTTCG	0.637																																																	0													101	87	92					2																	20870986		2203	4300	6503	SO:0001583	missense	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1154C>A	2.37:g.20870986C>A	ENSP00000272224:p.Pro385His			Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.P385H	ENST00000272224.3	37	c.1154	CCDS1701.1	2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867616	0.72065	.	.	ENSG00000143869	ENST00000272224	T	0.65732	-0.17	3.93	3.93	0.45458	Transforming growth factor-beta, C-terminal (3);	0.000000	0.64402	U	0.000005	T	0.81108	0.4754	M	0.84433	2.695	0.50313	D	0.999866	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	.	16.8324	0.85948	0.0:1.0:0.0:0.0	.	385	Q7Z4P5	GDF7_HUMAN	H	385	ENSP00000272224:P385H	ENSP00000272224:P385H	P	+	2	0	GDF7	20734467	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	5.837000	0.69381	2.117000	0.64856	0.462000	0.41574	CCT	GDF7	-	pfam_TGF-b_C,smart_TGF-b_C		0.637	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	C	NM_182828		20870986	1	no_errors	ENST00000272224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20870986	C	A	20870986	3	1	125	1	0	0	0	0	1	0	0	0	6337	681	24	4	1160	4	GDF7	2	20870986	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		20870986	222328387	6	19453										
VWA3B	200403	genome.wustl.edu	37	chr2	98779316	98779316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ctgtgtctccccttttaggaGctggagtcagagaggacgtg	14	9	2	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:98779316G>A	ENST00000477737.1	+	8	1195	c.991G>A	c.(991-993)Gct>Act	p.A331T	VWA3B_ENST00000435344.1_Missense_Mutation_p.A331T|VWA3B_ENST00000451075.2_Missense_Mutation_p.A181T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	331										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTTTAGGAGCTGGAGTCAG	0.617																																																	0													43	45	44					2																	98779316		2101	4235	6336	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.991G>A	2.37:g.98779316G>A	ENSP00000417955:p.Ala331Thr		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A331T	ENST00000477737.1	37	c.991	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	2.153	-0.394000	0.04899	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24350	1.86;3.3;2.43	4.68	4.68	0.58851	.	0.100619	0.43747	N	0.000534	T	0.25791	0.0628	L	0.59436	1.845	0.34395	D	0.694587	P;D;P	0.53312	0.894;0.959;0.89	B;B;B	0.43623	0.314;0.425;0.374	T	0.29941	-0.9995	10	0.14252	T	0.57	.	12.9809	0.58564	0.0:0.0:1.0:0.0	.	181;331;331	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	331;331;181	ENSP00000401959:A331T;ENSP00000417955:A331T;ENSP00000389463:A181T	ENSP00000411168:A331T	A	+	1	0	VWA3B	98145748	1.000000	0.71417	0.991000	0.47740	0.021000	0.10359	4.536000	0.60636	2.428000	0.82296	0.650000	0.86243	GCT	VWA3B	-	NULL		0.617	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	G	NM_144992		98779316	1	no_errors	ENST00000477737	ensembl	human	known	70_37	missense	SNP	0.995	A	A	98779316	G	A	98779316	3	1	125	1	0	0	0	0	1	0	0	0	17272	971	34	4	1017	4	VWA3B	2	98779316	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	77908330	98779316	144420057	7	19454										
EVX2	344191	genome.wustl.edu	37	chr2	176948343	176948343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gcgctgtgcaggggggcagaCggcaggcgcgggcttaggcg	22	10	0	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:176948343C>T	ENST00000308618.4	-	1	298	c.162G>A	c.(160-162)ccG>ccA	p.P54P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	54					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P54P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GGGGGGCAGACGGCAGGCGCG	0.607																																																	1	Substitution - coding silent(1)	lung(1)											38	44	42					2																	176948343		2203	4300	6503	SO:0001819	synonymous_variant	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.162G>A	2.37:g.176948343C>T				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.P54	ENST00000308618.4	37	c.162	CCDS33333.1	2																																																																																			EVX2	-	NULL		0.607	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	C			176948343	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	silent	SNP	1.000	T	T	176948343	C	T	176948343	2	4	125	1	0	0	0	0	0	0	0	1	5307	523	19	2		2	EVX2	2	176948343	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	78169027	176948343	66251030	8	19455										
DNAH7	56171	genome.wustl.edu	37	chr2	196753575	196753575	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gctcaaaaattagattcattTgtggtgacatctgaataatc	7	6	3	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:196753575T>A	ENST00000312428.6	-	32	5277	c.5177A>T	c.(5176-5178)cAa>cTa	p.Q1726L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1726	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGATTCATTTGTGGTGACAT	0.373																																																	0													119	116	117					2																	196753575		1917	4139	6056	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5177A>T	2.37:g.196753575T>A	ENSP00000311273:p.Gln1726Leu		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Q1726L	ENST00000312428.6	37	c.5177	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998400	0.35226	.	.	ENSG00000118997	ENST00000312428	T	0.39997	1.05	5.38	4.16	0.48862	.	0.129980	0.52532	D	0.000079	T	0.37544	0.1007	L	0.55103	1.725	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.18335	-1.0340	10	0.26408	T	0.33	.	12.6471	0.56742	0.0:0.0:0.137:0.8629	.	1726	Q8WXX0	DYH7_HUMAN	L	1726	ENSP00000311273:Q1726L	ENSP00000311273:Q1726L	Q	-	2	0	DNAH7	196461820	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.902000	0.63266	2.173000	0.68751	0.533000	0.62120	CAA	DNAH7	-	NULL		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	T	NM_018897		196753575	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.996	A	A	196753575	T	A	196753575	3	1	125	1	0	0	0	0	1	0	0	0	4616	1812	63	5	7033	5	DNAH7	2	196753575	Missense_Mutation	SNP	T	TCGA-EX-A69M-01A-11D-A32I-09	19805232	196753575	46445798	9	19456										
PLCD4	84812	genome.wustl.edu	37	chr2	219499242	219499242	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tgtgatgggcatttccgccaGaatggcggctgtggctatgt	15	8	0	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:219499242G>A	ENST00000450993.2	+	13	2124	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	PLCD4_ENST00000432688.1_Silent_p.Q627Q|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000417849.1_Silent_p.Q595Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	595	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTTCCGCCAGAATGGCGGCT	0.527																																																	0													111	110	111					2																	219499242		1932	4124	6056	SO:0001819	synonymous_variant	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1785G>A	2.37:g.219499242G>A			Q53FS8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Q595	ENST00000450993.2	37	c.1785	CCDS46516.1	2																																																																																			PLCD4	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.527	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	G			219499242	1	no_errors	ENST00000417849	ensembl	human	known	70_37	silent	SNP	1.000	A	A	219499242	G	A	219499242	2	1	125	1	0	0	0	0	0	0	0	1	12057	933	33	1		1	PLCD4	2	219499242	Silent	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	22745667	219499242	23700131	10	19457										
ITGA9	3680	genome.wustl.edu	37	chr3	37792021	37792021	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tctttccctaatcgactctcAtctggtggtgcagagatgtt	9	10	3	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr3:37792021A>T	ENST00000264741.5	+	23	2758	c.2502A>T	c.(2500-2502)tcA>tcT	p.S834S	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	834					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ATCGACTCTCATCTGGTGGTG	0.478																																																	0													197	174	182					3																	37792021		2203	4300	6503	SO:0001819	synonymous_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2502A>T	3.37:g.37792021A>T			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S834	ENST00000264741.5	37	c.2502	CCDS2669.1	3																																																																																			ITGA9	-	pfam_Integrin_alpha-2		0.478	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	A	NM_002207		37792021	1	no_errors	ENST00000264741	ensembl	human	known	70_37	silent	SNP	0.034	T	T	37792021	A	T	37792021	2	4	125	1	0	0	0	0	0	0	0	1	7903	204	8	5		5	ITGA9	3	37792021	Silent	SNP	A	TCGA-EX-A69M-01A-11D-A32I-09		37792021	160230409	11	19458										
QTRTD1	79691	genome.wustl.edu	37	chr3	113798754	113798754	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cttattcttacttttacaggCtcatatctggtgttagtcgg	8	8	3	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr3:113798754C>A	ENST00000493014.1	+	4	498	c.430C>A	c.(430-432)Ctc>Atc	p.L144I	QTRTD1_ENST00000479882.1_Splice_Site_p.L127I|QTRTD1_ENST00000485050.1_Splice_Site_p.L262I|QTRTD1_ENST00000281273.4_Splice_Site_p.L250I	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CTTTTACAGGCTCATATCTGG	0.388																																																	0													155	150	152					3																	113798754		2203	4300	6503	SO:0001630	splice_region_variant	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.429-1C>A	3.37:g.113798754C>A				Missense_Mutation	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans	p.L250I	ENST00000493014.1	37	c.748	CCDS58845.1	3	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107203	0.20714	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.48	5.48	0.80851	.	0.136994	0.51477	D	0.000099	T	0.43411	0.1246	L	0.31420	0.93	0.44055	D	0.996797	B;B	0.28026	0.153;0.198	B;B	0.28011	0.078;0.085	T	0.38023	-0.9680	9	0.39692	T	0.17	.	8.689	0.34256	0.1618:0.7603:0.0:0.0779	.	144;250	B7Z472;Q9H974	.;QTRD1_HUMAN	I	262;250;127;144	.	ENSP00000281273:L250I	L	+	1	0	QTRTD1	115281444	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	2.791000	0.47829	2.583000	0.87209	0.555000	0.69702	CTC	QTRTD1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans		0.388	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	HGNC	protein_coding	OTTHUMT00000354711.1	C	NM_024638	Missense_Mutation	113798754	1	no_errors	ENST00000281273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113798754	C	A	113798754	5	1	125	1	0	0	0	0	0	0	1	0	12916	811	28	4	770	4	QTRTD1	3	113798754	Splice_Site	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	76006733	113798754	84223676	12	19459										
SCHIP1	100505385	genome.wustl.edu	37	chr3	159482297	159482297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	agcagcagcagcagccgcgcCagttcacagtccaactccac	9	17	1	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr3:159482297C>T	ENST00000460298.1	+	2	289	c.48C>T	c.(46-48)gcC>gcT	p.A16A	IQCJ-SCHIP1_ENST00000412423.2_Silent_p.A43A|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.A119A|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.A43A|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.A92A|IQCJ-SCHIP1-AS1_ENST00000460574.1_RNA					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						gcagcCGCGCCAGTTCACAGT	0.622																																																	0													23	24	24					3																	159482297		2200	4297	6497	SO:0001819	synonymous_variant	100505385				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.48C>T	3.37:g.159482297C>T				Silent	SNP	pfam_SCHIP_1	p.A119	ENST00000460298.1	37	c.357		3																																																																																			IQCJ-SCHIP1	-	NULL		0.622	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352558.2	C	NM_001197113		159482297	1	no_errors	ENST00000485419	ensembl	human	known	70_37	silent	SNP	1.000	T	T	159482297	C	T	159482297	2	4	125	1	0	0	0	0	0	0	0	1	13934	581	21	4		4	SCHIP1	3	159482297	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	45683543	159482297	38540133	13	19460										
MUC7	4589	genome.wustl.edu	37	chr4	71346991	71346991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cacaccttctgcaactacacCagctccaccatcttcctcag	3	19	3	0	rs199677579		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr4:71346991C>A	ENST00000304887.5	+	3	720	c.530C>A	c.(529-531)cCa>cAa	p.P177Q	MUC7_ENST00000413702.1_Missense_Mutation_p.P177Q|MUC7_ENST00000456088.1_Missense_Mutation_p.P177Q|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	177	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCAACTACACCAGCTCCACCA	0.542																																																	0													350	286	308					4																	71346991		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.530C>A	4.37:g.71346991C>A	ENSP00000302021:p.Pro177Gln		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.P177Q	ENST00000304887.5	37	c.530	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279326	0.23307	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.45668	0.89;0.89;0.89	2.82	0.89	0.19218	.	.	.	.	.	T	0.22475	0.0542	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.19391	0.025	T	0.22941	-1.0202	8	.	.	.	2.7687	3.2443	0.06792	0.2566:0.5934:0.0:0.15	.	177	Q8TAX7	MUC7_HUMAN	Q	177	ENSP00000407422:P177Q;ENSP00000400585:P177Q;ENSP00000302021:P177Q	.	P	+	2	0	MUC7	71381580	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.357000	0.20199	0.187000	0.20147	0.591000	0.81541	CCA	MUC7	-	NULL		0.542	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	C	NM_152291		71346991	1	no_errors	ENST00000304887	ensembl	human	known	70_37	missense	SNP	0.009	A	A	71346991	C	A	71346991	3	1	125	1	0	0	0	0	1	0	0	0	10004	594	21	4	536	4	MUC7	4	71346991	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		71346991	119807285	14	19461										
PRKG2	5593	genome.wustl.edu	37	chr4	82126091	82126091	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	atctcagcatccttcctcctCaactctctctccagctctgt	3	18	5	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr4:82126091C>A	ENST00000395578.1	-	2	227	c.111G>T	c.(109-111)ttG>ttT	p.L37F	PRKG2_ENST00000264399.1_Missense_Mutation_p.L37F|PRKG2_ENST00000418486.2_Missense_Mutation_p.L37F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	37					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCTTCCTCCTCAACTCTCTCT	0.537																																																	0													107	101	103					4																	82126091		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.111G>T	4.37:g.82126091C>A	ENSP00000378945:p.Leu37Phe		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L37F	ENST00000395578.1	37	c.111	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233327	0.39498	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83837	-1.77;-1.77;-1.77	5.1	4.24	0.50183	.	0.246151	0.33180	N	0.005188	T	0.69033	0.3066	L	0.27053	0.805	0.80722	D	1	B;P	0.37141	0.172;0.584	B;B	0.32149	0.059;0.141	T	0.70630	-0.4819	10	0.49607	T	0.09	-5.5421	8.7135	0.34397	0.1485:0.7734:0.0:0.078	.	37;37	E7EPE6;Q13237	.;KGP2_HUMAN	F	37	ENSP00000378945:L37F;ENSP00000264399:L37F;ENSP00000389038:L37F	ENSP00000264399:L37F	L	-	3	2	PRKG2	82345115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.072000	0.30678	2.665000	0.90641	0.585000	0.79938	TTG	PRKG2	-	pirsf_cGMP-dependent_protein_kinase		0.537	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82126091	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82126091	C	A	82126091	3	1	125	1	0	0	0	0	1	0	0	0	12550	825	29	3	2249	3	PRKG2	4	82126091	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	10779100	82126091	109028185	15	19462										
TLR2	7097	genome.wustl.edu	37	chr4	154624095	154624095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tggatggtgtgggtcttgggGgtcatcatcagcctctccaa	14	9	5	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr4:154624095G>A	ENST00000260010.6	+	1	1444	c.36G>A	c.(34-36)ggG>ggA	p.G12G		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	12					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GGGTCTTGGGGGTCATCATCA	0.458																																																	0													108	105	106					4																	154624095		2203	4300	6503	SO:0001819	synonymous_variant	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.36G>A	4.37:g.154624095G>A			B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.G12	ENST00000260010.6	37	c.36	CCDS3784.1	4																																																																																			TLR2	-	pirsf_Toll-like_receptor		0.458	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	G			154624095	1	no_errors	ENST00000260010	ensembl	human	known	70_37	silent	SNP	0.002	A	A	154624095	G	A	154624095	2	1	125	1	0	0	0	0	0	0	0	1	15981	1219	43	4		4	TLR2	4	154624095	Silent	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	72498004	154624095	36530181	16	19463										
TRIO	7204	genome.wustl.edu	37	chr5	14461388	14461389	+	Frame_Shift_Ins	INS	-	-	CGGC													0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gaaggactccgacgacagtgINScggccaccccgcaggacgag							TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:14461388_14461389insCGGC	ENST00000344204.4	+	35	5488_5489	c.5464_5465insCGGC	c.(5464-5466)gcgfs	p.A1822fs	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Frame_Shift_Ins_p.A1822fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1822					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGACGACAGTGCGGCCACCCCG	0.688																																																	0																																										SO:0001589	frameshift_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5465_5468dupCGGC	5.37:g.14461389_14461392dupCGGC	ENSP00000339299:p.Ala1822fs		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Frame_Shift_Ins	INS	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T1824fs	ENST00000344204.4	37	c.5464_5465	CCDS3883.1	5																																																																																			TRIO	-	NULL		0.688	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	NM_007118		14461389	1	no_errors	ENST00000344204	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CGGC	CGGC	14461389	-	CGGC	14461388	7	5	125	1	0	1	1	0	0	0	0	0	16583	1319	46	0	5602	0	TRIO	5	14461388	Frame_Shift_Ins	INS	-	TCGA-EX-A69M-01A-11D-A32I-09		14461388	166453872	17	19464										
TTC33	23548	genome.wustl.edu	37	chr5	40728489	40728489	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	agttgagcacgtcccaaagtCtgccaagactcccatgaatg	9	12	1	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:40728489C>T	ENST00000337702.4	-	4	545	c.393G>A	c.(391-393)caG>caA	p.Q131Q	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	131										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GTCCCAAAGTCTGCCAAGACT	0.393																																																	0													85	84	84					5																	40728489		2203	4300	6503	SO:0001819	synonymous_variant	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.393G>A	5.37:g.40728489C>T			B2R6G0|O95105	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q131	ENST00000337702.4	37	c.393	CCDS3931.1	5																																																																																			TTC33	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.393	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC33	HGNC	protein_coding	OTTHUMT00000253831.1	C	NM_012382		40728489	-1	no_errors	ENST00000337702	ensembl	human	known	70_37	silent	SNP	0.816	T	T	40728489	C	T	40728489	2	4	125	1	0	0	0	0	0	0	0	1	16733	912	32	1		1	TTC33	5	40728489	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	26267101	40728489	140186771	18	19465										
SLCO6A1	133482	genome.wustl.edu	37	chr5	101834431	101834431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tttcccgggcttcgaggactTcggggttcccttggccctcc	12	15	0	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:101834431T>C	ENST00000506729.1	-	1	289	c.118A>G	c.(118-120)Aag>Gag	p.K40E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K40E|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.K40E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.K40E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K40E|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCGAGGACTTCGGGGTTCCC	0.592																																																	0													119	135	130					5																	101834431		2203	4300	6503	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.118A>G	5.37:g.101834431T>C	ENSP00000421339:p.Lys40Glu		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.K40E	ENST00000506729.1	37	c.118	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	T	3.185	-0.167106	0.06461	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46451	0.98;0.98;0.95;0.87;0.87	3.37	-1.82	0.07857	.	27.811000	0.00166	N	0.000002	T	0.19967	0.0480	N	0.12182	0.205	0.09310	N	1	P;P;B	0.41232	0.712;0.743;0.116	B;B;B	0.34873	0.054;0.191;0.055	T	0.25293	-1.0136	10	0.02654	T	1	.	8.4726	0.32995	0.0:0.6612:0.0:0.3388	.	40;40;40	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	E	40	ENSP00000421339:K40E;ENSP00000369135:K40E;ENSP00000373671:K40E;ENSP00000421990:K40E;ENSP00000369138:K40E	ENSP00000369135:K40E	K	-	1	0	SLCO6A1	101862330	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.293000	0.08320	-0.345000	0.08325	-0.425000	0.05940	AAG	SLCO6A1	-	NULL		0.592	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	T	NM_173488		101834431	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	missense	SNP	0.000	C	C	101834431	T	C	101834431	3	2	125	1	0	0	0	0	1	0	0	0	14762	1792	62	5	2093	5	SLCO6A1	5	101834431	Missense_Mutation	SNP	T	TCGA-EX-A69M-01A-11D-A32I-09	61105942	101834431	79080829	19	19466										
ANKHD1	54882	genome.wustl.edu	37	chr5	139838931	139838931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tggaattggttaaatatttgCtggcttctggtatgtggctt	12	4	1	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:139838931C>T	ENST00000360839.2	+	9	1817	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	ANKHD1_ENST00000394723.3_Silent_p.L555L|ANKHD1_ENST00000394722.3_Silent_p.L544L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L555L|ANKHD1_ENST00000297183.6_Silent_p.L555L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	555						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATATTTGCTGGCTTCTGG	0.408																																																	0													82	82	82					5																	139838931		2203	4300	6503	SO:0001819	synonymous_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1663C>T	5.37:g.139838931C>T			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L555	ENST00000360839.2	37	c.1663	CCDS4225.1	5																																																																																			ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139838931	1	no_errors	ENST00000297183	ensembl	human	known	70_37	silent	SNP	0.985	T	T	139838931	C	T	139838931	2	4	125	1	0	0	0	0	0	0	0	1	628	796	28	4		4	ANKHD1	5	139838931	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	38004500	139838931	41076329	20	19467										
B4GALT7	11285	genome.wustl.edu	37	chr5	177031510	177031510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	aggaagaagatccggcaccaCatctacgtgctcaaccaggt	10	12	2	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:177031510C>T	ENST00000029410.5	+	2	492	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	127					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGCACCACATCTACGTGC	0.667																																																	0													57	60	59					5																	177031510		2203	4300	6503	SO:0001819	synonymous_variant	11285			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.381C>T	5.37:g.177031510C>T			B3KN39|Q9UHN2	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.H127	ENST00000029410.5	37	c.381	CCDS4429.1	5																																																																																			B4GALT7	-	pfam_Galactosyl_T_2_met		0.667	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	C	NM_007255		177031510	1	no_errors	ENST00000029410	ensembl	human	known	70_37	silent	SNP	1.000	T	T	177031510	C	T	177031510	2	4	125	1	0	0	0	0	0	0	0	1	1277	477	17	4		4	B4GALT7	5	177031510	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	37192579	177031510	3883750	21	19468										
HIST1H2BD	3017	genome.wustl.edu	37	chr6	26158407	26158407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ttaacgctacgatgcctgaaCctaccaagtctgctcctgcc	7	15	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:26158407C>T	ENST00000289316.2	+	1	34	c.10C>T	c.(10-12)Cct>Tct	p.P4S	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.P4S	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	4					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GATGCCTGAACCTACCAAGTC	0.512																																																	0													91	92	92					6																	26158407		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.10C>T	6.37:g.26158407C>T	ENSP00000289316:p.Pro4Ser			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P4S	ENST00000289316.2	37	c.10	CCDS4587.1	6	.	.	.	.	.	.	.	.	.	.	.	17.27	3.347792	0.61183	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.18016	2.24;2.24	5.13	5.13	0.70059	Histone-fold (1);	0.192096	0.25186	N	0.032500	T	0.16085	0.0387	M	0.78285	2.405	0.42305	D	0.992198	B	0.30482	0.281	B	0.31547	0.132	T	0.01570	-1.1322	10	0.59425	D	0.04	.	16.1409	0.81522	0.0:1.0:0.0:0.0	.	4	P58876	H2B1D_HUMAN	S	4	ENSP00000367008:P4S;ENSP00000289316:P4S	ENSP00000289316:P4S	P	+	1	0	HIST1H2BD	26266386	0.887000	0.30362	0.232000	0.24009	0.030000	0.12068	3.599000	0.54045	2.769000	0.95229	0.650000	0.86243	CCT	HIST1H2BD	-	NULL		0.512	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BD	HGNC	protein_coding	OTTHUMT00000040088.1	C	NM_021063		26158407	1	no_errors	ENST00000289316	ensembl	human	known	70_37	missense	SNP	0.984	T	T	26158407	C	T	26158407	3	4	125	1	0	0	0	0	1	0	0	0	7163	507	18	4	12	4	HIST1H2BD	6	26158407	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		26158407	144956660	22	19469										
B3GALT4	8705	genome.wustl.edu	37	chr6	33245262	33245262	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ctggtgatcgtctggaccctCttcgggccttcggggttggg	16	11	2	1	rs370873982		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:33245262C>T	ENST00000451237.1	+	1	346	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	22					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCTGGACCCTCTTCGGGCCTT	0.701																																																	0								C		0,4402		0,0,2201	30	34	33		66	1.7	1	6		33	1,8589		0,1,4294	no	coding-synonymous	B3GALT4	NM_003782.3		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		22/379	33245262	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.66C>T	6.37:g.33245262C>T				Silent	SNP	pfam_Glyco_trans_31	p.L22	ENST00000451237.1	37	c.66	CCDS34425.1	6																																																																																			B3GALT4	-	NULL		0.701	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	C			33245262	1	no_errors	ENST00000451237	ensembl	human	known	70_37	silent	SNP	0.018	T	T	33245262	C	T	33245262	2	4	125	1	0	0	0	0	0	0	0	1	1250	900	32	1		1	B3GALT4	6	33245262	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	7086855	33245262	137869805	23	19470										
EYA4	2070	genome.wustl.edu	37	chr6	133777755	133777755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gaaaccacagccacgactggAgatggagcgcttgacacttt	11	11	0	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:133777755A>G	ENST00000367895.5	+	6	803	c.339A>G	c.(337-339)ggA>ggG	p.G113G	EYA4_ENST00000355286.6_Silent_p.G90G|RP1-283K11.2_ENST00000457081.1_RNA|EYA4_ENST00000525849.1_Silent_p.G90G|EYA4_ENST00000531901.1_Silent_p.G113G|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000431403.2_Silent_p.G113G|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Silent_p.G113G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	113					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACGACTGGAGATGGAGCGC	0.473																																					Melanoma(57;398 1237 3528 4702 7415)												0													214	208	210					6																	133777755		2203	4300	6503	SO:0001819	synonymous_variant	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.339A>G	6.37:g.133777755A>G			B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.G113	ENST00000367895.5	37	c.339	CCDS5165.1	6																																																																																			EYA4	-	NULL		0.473	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	A	NM_004100		133777755	1	no_errors	ENST00000355167	ensembl	human	known	70_37	silent	SNP	1.000	G	G	133777755	A	G	133777755	2	3	125	1	0	0	0	0	0	0	0	1	5343	291	11	5		5	EYA4	6	133777755	Silent	SNP	A	TCGA-EX-A69M-01A-11D-A32I-09	100532493	133777755	37337312	24	19471										
UTRN	7402	genome.wustl.edu	37	chr6	145148812	145148812	+	Splice_Site	DEL	G	G	-													0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	aatagaacaatatgccacacGgtaagaaactttgatcagag							TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:145148812delG	ENST00000367545.3	+	67	9599	c.9599delG	c.(9598-9600)cga>ca	p.R3200fs	UTRN_ENST00000367526.4_Splice_Site_p.R755fs	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3200					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)			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)		TATGCCACACGGTAAGAAACT	0.353																																																	0													77	76	76					6																	145148812		2203	4300	6503	SO:0001630	splice_region_variant	7402			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.9599+1G>-	6.37:g.145148812delG			Q5SYY1|Q5SZ57|Q9UJ40	Frame_Shift_Del	DEL	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.R3200fs	ENST00000367545.3	37	c.9599	CCDS34547.1	6																																																																																			UTRN	-	pirsf_Dystrophin/utrophin		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	G		Frame_Shift_Del	145148812	1	no_errors	ENST00000367545	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	145148812	G	-	145148812	8	5	125	1	0	1	0	1	0	0	1	0	17134	1130	39	0	9865	0	UTRN	6	145148812	Splice_Site	DEL	G	TCGA-EX-A69M-01A-11D-A32I-09	11371057	145148812	25966255	25	19472										
LATS1	9113	genome.wustl.edu	37	chr6	149997697	149997697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	aagaagtgctttacctgttcGtagcaacacttcaggtgcaa	9	9	1	1	rs145871963		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:149997697G>A	ENST00000543571.1	-	6	3317	c.2770C>T	c.(2770-2772)Cga>Tga	p.R924*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.R924*|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTACCTGTTCGTAGCAACACT	0.423																																																	0								G	stop/ARG	0,4406		0,0,2203	58	59	59		2770	5.8	1	6	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	LATS1	NM_004690.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		924/1131	149997697	1,13005	2203	4300	6503	SO:0001587	stop_gained	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2770C>T	6.37:g.149997697G>A	ENSP00000437550:p.Arg924*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R924*	ENST00000543571.1	37	c.2770	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.242566	0.99111	0.0	1.16E-4	ENSG00000131023	ENST00000543571;ENST00000253339	.	.	.	5.81	5.81	0.92471	.	0.000000	0.47455	D	0.000230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	.	.	.	X	924	.	.	R	-	1	2	LATS1	150039390	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.359000	0.66074	2.756000	0.94617	0.655000	0.94253	CGA	LATS1	-	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		0.423	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		149997697	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	149997697	G	A	149997697	4	1	125	1	0	0	0	0	0	1	0	0	8666	1153	40	2	634	2	LATS1	6	149997697	Nonsense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	4848885	149997697	21117370	26	19473										
AMZ1	155185	genome.wustl.edu	37	chr7	2740156	2740156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gaaggacgctctggtctccaCtgacgcagccctgcagcagc	12	15	2	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr7:2740156C>T	ENST00000312371.4	+	2	439	c.71C>T	c.(70-72)aCt>aTt	p.T24I	AMZ1_ENST00000407112.1_Missense_Mutation_p.T24I	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	24							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTGGTCTCCACTGACGCAGCC	0.672																																																	0													98	104	102					7																	2740156		2203	4300	6503	SO:0001583	missense	155185			AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.71C>T	7.37:g.2740156C>T	ENSP00000308149:p.Thr24Ile		B3KRS0|Q8TF51	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.T24I	ENST00000312371.4	37	c.71	CCDS34589.1	7	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375830	0.24857	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.32988	1.86;1.43	4.24	1.38	0.22167	.	0.581438	0.14772	N	0.299328	T	0.29256	0.0728	M	0.63428	1.95	0.09310	N	1	P;B	0.41910	0.764;0.244	B;B	0.42882	0.401;0.109	T	0.18777	-1.0326	10	0.56958	D	0.05	-0.2104	3.3142	0.07027	0.1412:0.5123:0.2433:0.1032	.	24;24	B3KRS0;Q400G9	.;AMZ1_HUMAN	I	24	ENSP00000308149:T24I;ENSP00000386020:T24I	ENSP00000308149:T24I	T	+	2	0	AMZ1	2706682	0.002000	0.14202	0.000000	0.03702	0.458000	0.32498	0.898000	0.28404	-0.031000	0.13781	0.561000	0.74099	ACT	AMZ1	-	NULL		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	HGNC	protein_coding	OTTHUMT00000325244.1	C	NM_133463		2740156	1	no_errors	ENST00000312371	ensembl	human	known	70_37	missense	SNP	0.048	T	T	2740156	C	T	2740156	3	4	125	1	0	0	0	0	1	0	0	0	596	565	20	4	73	4	AMZ1	7	2740156	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		2740156	156398507	27	19474										
SECISBP2	79048	genome.wustl.edu	37	chr9	91964815	91964815	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gctcccaatcacaccaccttCcctaagatccacagccgcag	5	19	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr9:91964815C>G	ENST00000375807.3	+	13	1934	c.1863C>G	c.(1861-1863)ttC>ttG	p.F621L	SECISBP2_ENST00000534113.2_Missense_Mutation_p.F553L|SECISBP2_ENST00000339901.4_Missense_Mutation_p.F548L	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	621					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ACACCACCTTCCCTAAGATCC	0.567																																																	0													123	102	109					9																	91964815		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1863C>G	9.37:g.91964815C>G	ENSP00000364965:p.Phe621Leu		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.F621L	ENST00000375807.3	37	c.1863	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	C	3.764	-0.048975	0.07407	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.70282	-0.47;-0.47;-0.47	4.73	2.84	0.33178	.	0.848684	0.10780	N	0.634999	T	0.46756	0.1409	N	0.16368	0.405	0.24923	N	0.991969	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.37731	-0.9693	10	0.02654	T	1	-0.2525	6.3016	0.21115	0.0:0.6697:0.0:0.3303	.	628;548;621	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	L	621;627;548;553	ENSP00000364965:F621L;ENSP00000364959:F548L;ENSP00000436650:F553L	ENSP00000364959:F548L	F	+	3	2	SECISBP2	91154635	0.698000	0.27777	0.954000	0.39281	0.914000	0.54420	2.120000	0.41968	1.210000	0.43336	0.655000	0.94253	TTC	SECISBP2	-	NULL		0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	C	NM_024077		91964815	1	no_errors	ENST00000375807	ensembl	human	known	70_37	missense	SNP	0.429	G	G	91964815	C	G	91964815	3	3	125	1	0	0	0	0	1	0	0	0	14036	854	30	1	1913	1	SECISBP2	9	91964815	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		91964815	49248616	28	19475										
CTBP2	1488	genome.wustl.edu	37	chr10	126714653	126714653	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gcggggaggatgtattacttGgttctggtgcaagcatggtg	17	5	1	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr10:126714653G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.P559L|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGTATTACTTGGTTCTGGTGC	0.632																																																	0													92	93	93					10																	126714653		2203	4300	6503	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12912C>T	10.37:g.126714653G>A			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.P559L	ENST00000337195.5	37	c.1676	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697824	0.48307	.	.	ENSG00000175029	ENST00000309035	D	0.82803	-1.65	5.29	4.34	0.51931	.	0.555416	0.18714	N	0.133209	T	0.78559	0.4302	.	.	.	0.80722	D	1	P	0.34587	0.458	B	0.31869	0.137	T	0.80219	-0.1473	9	0.54805	T	0.06	.	15.9448	0.79784	0.0:0.0:0.865:0.135	.	559	P56545-2	.	L	559	ENSP00000311825:P559L	ENSP00000311825:P559L	P	-	2	0	CTBP2	126704643	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	6.567000	0.73983	2.642000	0.89623	0.591000	0.81541	CCA	CTBP2	-	NULL		0.632	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	G	NM_001083914		126714653	-1	no_errors	ENST00000309035	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126714653	G	A	126714653	1	1	125	0	1	0	0	0	0	0	0	0	4003	1348	47	4		4	CTBP2	10	126714653	Intron	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		126714653	8820094	29	19476										
MUC6	4588	genome.wustl.edu	37	chr11	1017591	1017591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tggccgtgctaaatgagcttCgggattggctggtcccactg	14	10	0	1	rs200995870		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:1017591C>T	ENST00000421673.2	-	31	5260	c.5210G>A	c.(5209-5211)cGa>cAa	p.R1737Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1737	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAATGAGCTTCGGGATTGGCT	0.537																																																	0													573	570	571					11																	1017591		2179	4273	6452	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5210G>A	11.37:g.1017591C>T	ENSP00000406861:p.Arg1737Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.R1737Q	ENST00000421673.2	37	c.5210	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	-	0.042	-1.280063	0.01398	.	.	ENSG00000184956	ENST00000421673	T	0.17054	2.3	2.07	-4.14	0.03892	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.31625	0.332	B	0.12156	0.007	T	0.11060	-1.0603	9	0.12766	T	0.61	.	0.8772	0.01227	0.3471:0.0999:0.2744:0.2786	.	1737	Q6W4X9	MUC6_HUMAN	Q	1737	ENSP00000406861:R1737Q	ENSP00000406861:R1737Q	R	-	2	0	MUC6	1007591	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.823000	0.00181	-5.372000	0.00016	-5.258000	0.00001	CGA	MUC6	-	NULL		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	C	XM_290540		1017591	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1017591	C	T	1017591	3	4	125	1	0	0	0	0	1	0	0	0	10003	884	31	1	2121	1	MUC6	11	1017591	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		1017591	133988925	30	19477										
LDLRAD3	143458	genome.wustl.edu	37	chr11	36057766	36057766	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ggcagtgtgacgggctgcctGactgcttcgacaagagtgat	15	9	0	4			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:36057766G>A	ENST00000315571.5	+	2	181	c.160G>A	c.(160-162)Gac>Aac	p.D54N	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	54	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGGCTGCCTGACTGCTTCGA	0.622																																																	0													100	94	96					11																	36057766		2202	4298	6500	SO:0001583	missense	143458			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.160G>A	11.37:g.36057766G>A	ENSP00000318607:p.Asp54Asn		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.D54N	ENST00000315571.5	37	c.160	CCDS31462.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.382461	0.95967	.	.	ENSG00000179241	ENST00000545142;ENST00000315571	D	0.99005	-5.32	5.43	5.43	0.79202	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99211	0.9726	M	0.75150	2.29	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.99797	1.1034	10	0.62326	D	0.03	.	18.2104	0.89868	0.0:0.0:1.0:0.0	.	54	Q86YD5	LRAD3_HUMAN	N	54	ENSP00000318607:D54N	ENSP00000318607:D54N	D	+	1	0	LDLRAD3	36014342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.288000	0.78691	2.537000	0.85549	0.655000	0.94253	GAC	LDLRAD3	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.622	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD3	HGNC	protein_coding	OTTHUMT00000389085.1	G	NM_174902		36057766	1	no_errors	ENST00000315571	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36057766	G	A	36057766	3	1	125	1	0	0	0	0	1	0	0	0	8727	1290	45	1	166	1	LDLRAD3	11	36057766	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	35040175	36057766	98948750	31	19478										
LRRC55	219527	genome.wustl.edu	37	chr11	56949718	56949719	+	Missense_Mutation	DNP	CA	CA	AG													0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cgaaacctcagcctggcccaCaaccgcatcacagcagtgcc							TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:56949718_56949719CA>AG	ENST00000497933.1	+	1	498_499	c.351_352CA>AG	c.(349-354)caCAac>caAGac	p.117_118HN>QD		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	87					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCCTGGCCCACAACCGCATCAC	0.594																																																	0																																										SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	Exception_encountered	11.37:g.56949718_56949719delinsAG	ENSP00000419542:p.H117_N118delinsQD		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H117Q|p.N118D	ENST00000497933.1	37	c.351|c.352	CCDS31539.1	11																																																																																			LRRC55	-	smart_Leu-rich_rpt_typical-subtyp		0.594	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	C|A	NM_001005210		56949718|56949719	1	no_errors	ENST00000497933	ensembl	human	known	70_37	missense	SNP	1.000	A|G	AG	56949719	CA	AG	56949718	3	1	125	1	0	0	0	0	1	0	0	0	9034	477	17	4	353	4	LRRC55	11	56949718	Missense_Mutation	DNP	CA	TCGA-EX-A69M-01A-11D-A32I-09	20891952	56949718	78056798	32	19479										
FAM111A	63901	genome.wustl.edu	37	chr11	58920144	58920144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	aattgcatagaacaacgtttGggaaagtaacaaaaaattct	7	5	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:58920144G>T	ENST00000528737.1	+	5	3821	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	FAM111A_ENST00000420244.1_Missense_Mutation_p.G335W|FAM111A_ENST00000533703.1_Missense_Mutation_p.G335W|FAM111A_ENST00000361723.3_Missense_Mutation_p.G335W|FAM111A_ENST00000531147.1_Missense_Mutation_p.G335W			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	335					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AACAACGTTTGGGAAAGTAAC	0.333																																																	0													54	60	58					11																	58920144		2198	4293	6491	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1003G>T	11.37:g.58920144G>T	ENSP00000434435:p.Gly335Trp		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.G335W	ENST00000528737.1	37	c.1003	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809957	0.31961	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.73	1.3	0.21679	Peptidase cysteine/serine, trypsin-like (1);	0.421653	0.22187	N	0.063438	T	0.41259	0.1151	M	0.61703	1.905	0.30036	N	0.813053	B	0.28783	0.222	B	0.29598	0.104	T	0.42275	-0.9461	10	0.52906	T	0.07	-17.4114	7.6383	0.28280	0.0818:0.0:0.429:0.4892	.	335	Q96PZ2	F111A_HUMAN	W	335	ENSP00000434435:G335W;ENSP00000406683:G335W;ENSP00000355264:G335W;ENSP00000433154:G335W;ENSP00000431631:G335W	ENSP00000355264:G335W	G	+	1	0	FAM111A	58676720	0.998000	0.40836	0.908000	0.35775	0.620000	0.37586	1.188000	0.32102	0.362000	0.24319	0.655000	0.94253	GGG	FAM111A	-	superfamily_Pept_cys/ser_Trypsin-like		0.333	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	G	NM_022074		58920144	1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.793	T	T	58920144	G	T	58920144	3	4	125	1	0	0	0	0	1	0	0	0	5414	1348	47	4	1009	4	FAM111A	11	58920144	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	1970426	58920144	76086372	33	19480										
SLC22A6	9356	genome.wustl.edu	37	chr11	62747277	62747277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cagccatctgggcaggccggCgacccagggagttgatgaca	15	12	1	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:62747277C>T	ENST00000377871.3	-	7	1447	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	SLC22A6_ENST00000458333.2_Missense_Mutation_p.R394H|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R394H|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R394H	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	394					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCAGGCCGGCGACCCAGGGA	0.602																																																	0													53	52	53					11																	62747277		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1181G>A	11.37:g.62747277C>T	ENSP00000367102:p.Arg394His		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R394H	ENST00000377871.3	37	c.1181	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854169	0.91355	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	M	0.93678	3.445	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.977;0.99;0.986;0.99	D	0.94571	0.7771	10	0.87932	D	0	.	14.5187	0.67835	0.0:1.0:0.0:0.0	.	394;394;394;394	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	H	394;373;394;394;394	ENSP00000353597:R394H;ENSP00000367102:R394H;ENSP00000396401:R394H;ENSP00000404441:R394H	ENSP00000353597:R394H	R	-	2	0	SLC22A6	62503853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.472000	0.80996	2.255000	0.74692	0.561000	0.74099	CGC	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.602	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	C	NM_004790		62747277	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62747277	C	T	62747277	3	4	125	1	0	0	0	0	1	0	0	0	14488	768	27	2	526	2	SLC22A6	11	62747277	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	3827133	62747277	72259239	34	19481										
OR8B4	283162	genome.wustl.edu	37	chr11	124293926	124293926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tcgaagggttaagcatgggaAccacattggtgtaaaagact	12	6	0	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:124293926A>G	ENST00000356130.3	-	1	863	c.842T>C	c.(841-843)gTt>gCt	p.V281A		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGCATGGGAACCACATTGGT	0.443																																																	0													97	94	95					11																	124293926		2201	4299	6500	SO:0001583	missense	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.842T>C	11.37:g.124293926A>G	ENSP00000348449:p.Val281Ala		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V281A	ENST00000356130.3	37	c.842	CCDS31710.1	11	.	.	.	.	.	.	.	.	.	.	a	15.54	2.862797	0.51482	.	.	ENSG00000198657	ENST00000356130	T	0.36878	1.23	4.1	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.330899	0.21268	N	0.077368	T	0.30854	0.0778	N	0.21583	0.68	0.21719	N	0.999571	P	0.42692	0.787	P	0.53760	0.734	T	0.14448	-1.0472	10	0.66056	D	0.02	.	0.7177	0.00935	0.4647:0.2077:0.1284:0.1992	.	281	Q96RC9	OR8B4_HUMAN	A	281	ENSP00000348449:V281A	ENSP00000348449:V281A	V	-	2	0	OR8B4	123799136	0.006000	0.16342	0.998000	0.56505	0.969000	0.65631	1.367000	0.34204	0.880000	0.35969	0.533000	0.62120	GTT	OR8B4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	HGNC	protein_coding	OTTHUMT00000387055.1	A	NM_001005196		124293926	-1	no_errors	ENST00000356130	ensembl	human	putative	70_37	missense	SNP	0.478	G	G	124293926	A	G	124293926	3	3	125	1	0	0	0	0	1	0	0	0	11253	43	2	5	89	5	OR8B4	11	124293926	Missense_Mutation	SNP	A	TCGA-EX-A69M-01A-11D-A32I-09	61546649	124293926	10712590	35	19482										
IPO5	3843	genome.wustl.edu	37	chr13	98652882	98652882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gatgatcaaggaacacattaTgcaaatgcttcaaaatcgta	7	7	2	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr13:98652882T>C	ENST00000490680.1	+	10	1156	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	IPO5_ENST00000539640.1_Missense_Mutation_p.M239T|IPO5_ENST00000261574.5_Missense_Mutation_p.M382T			O00410	IPO5_HUMAN	importin 5	364	Ran-GTP binding. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAACACATTATGCAAATGCTT	0.413																																																	0													132	113	120					13																	98652882		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1091T>C	13.37:g.98652882T>C	ENSP00000418393:p.Met364Thr		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.M382T	ENST00000490680.1	37	c.1145		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.12|15.12	2.740200|2.740200	0.49045|0.49045	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24920	.|0.032;0.07;0.114	.|B;B;B	.|0.29440	.|0.102;0.028;0.089	T|T	0.01566|0.01566	-1.1323|-1.1323	5|10	.|0.56958	.|D	.|0.05	-8.5924|-8.5924	16.4892|16.4892	0.84195|0.84195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|239;364;382	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	R|T	366|382;364;364;239	.|ENSP00000261574:M382T;ENSP00000350219:M364T;ENSP00000418393:M364T;ENSP00000445126:M239T	.|ENSP00000261574:M382T	C|M	+|+	1|2	0|0	IPO5|IPO5	97450883|97450883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.471000|7.471000	0.80985|0.80985	2.296000|2.296000	0.77279|0.77279	0.533000|0.533000	0.62120|0.62120	TGC|ATG	IPO5	-	superfamily_ARM-type_fold		0.413	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	T	NM_002271		98652882	1	no_errors	ENST00000261574	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98652882	T	C	98652882	3	2	125	1	0	0	0	0	1	0	0	0	7816	1464	51	5	1187	5	IPO5	13	98652882	Missense_Mutation	SNP	T	TCGA-EX-A69M-01A-11D-A32I-09		98652882	16516996	36	19483										
SFRS5	6430	genome.wustl.edu	37	chr14	70235906	70235906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ttttcttcctcagaaatgctCcacctgtaagaacagaaaat	5	10	2	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:70235906C>T	ENST00000553521.1	+	6	1757	c.304C>T	c.(304-306)Cca>Tca	p.P102S	SRSF5_ENST00000394366.2_Missense_Mutation_p.P102S|SRSF5_ENST00000557154.1_Missense_Mutation_p.P102S|SRSF5_ENST00000553635.1_Missense_Mutation_p.P99S|SRSF5_ENST00000554021.1_Missense_Mutation_p.P102S|SRSF5_ENST00000451983.2_Missense_Mutation_p.P102S|SRSF5_ENST00000555349.1_Missense_Mutation_p.P102S|SRSF5_ENST00000553548.1_3'UTR|SRSF5_ENST00000556587.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	102					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						CAGAAATGCTCCACCTGTAAG	0.388																																																	0													64	64	64					14																	70235906		2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.304C>T	14.37:g.70235906C>T	ENSP00000452123:p.Pro102Ser		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P102S	ENST00000553521.1	37	c.304	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486387	0.63962	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T	0.35048	2.91;2.91;1.33;2.91;1.33;2.17;1.38;1.33	5.52	5.52	0.82312	.	0.098018	0.64402	D	0.000001	T	0.57272	0.2042	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.972;0.996	T	0.56214	-0.8016	10	0.56958	D	0.05	.	19.4584	0.94904	0.0:1.0:0.0:0.0	.	99;102	Q13243-3;Q13243	.;SRSF5_HUMAN	S	102;102;102;102;102;99;102;102	ENSP00000452123:P102S;ENSP00000377892:P102S;ENSP00000452449:P102S;ENSP00000451088:P102S;ENSP00000402734:P102S;ENSP00000451391:P99S;ENSP00000452090:P102S;ENSP00000450918:P102S	ENSP00000377892:P102S	P	+	1	0	SRSF5	69305659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.016000	0.70798	2.581000	0.87130	0.655000	0.94253	CCA	SRSF5	-	NULL		0.388	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	C	NM_001039465		70235906	1	no_errors	ENST00000451983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70235906	C	T	70235906	3	4	125	1	0	0	0	0	1	0	0	0	14210	855	30	1	318	1	SFRS5	14	70235906	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		70235906	37113634	37	19484										
RBM25	58517	genome.wustl.edu	37	chr14	73578379	73578379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ccttggattatggtgaagatGataaaaatgcaaccaaaggc	10	6	0	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:73578379G>C	ENST00000261973.7	+	16	2446	c.2161G>C	c.(2161-2163)Gat>Cat	p.D721H	RBM25_ENST00000527432.1_Missense_Mutation_p.D721H|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	721					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGGTGAAGATGATAAAAATGC	0.403																																																	0													121	116	118					14																	73578379		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2161G>C	14.37:g.73578379G>C	ENSP00000261973:p.Asp721His		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.D721H	ENST00000261973.7	37	c.2161	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527165	0.85706	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.12879	2.64;2.64	5.8	5.8	0.92144	.	0.043228	0.85682	D	0.000000	T	0.27419	0.0673	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.55749	0.783	T	0.00068	-1.2140	10	0.39692	T	0.17	.	20.0493	0.97618	0.0:0.0:1.0:0.0	.	721	P49756	RBM25_HUMAN	H	721	ENSP00000261973:D721H;ENSP00000431150:D721H	ENSP00000261973:D721H	D	+	1	0	RBM25	72648132	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.745000	0.94114	0.491000	0.48974	GAT	RBM25	-	NULL		0.403	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	G	XM_027330		73578379	1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73578379	G	C	73578379	3	2	125	1	0	0	0	0	1	0	0	0	13155	1290	45	1	2219	1	RBM25	14	73578379	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	3342473	73578379	33771161	38	19485										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102514296	102514296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	atgcggacactgcacaccacCgcgtccaactggctgcacct	9	17	0	0	rs375767483		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:102514296C>T	ENST00000360184.4	+	73	13313	c.13149C>T	c.(13147-13149)acC>acT	p.T4383T	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4383					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCACACCACCGCGTCCAACT	0.647													C|||	1	0.000199681	0	0	5008	,	,		15065	0		0.001	False		,,,				2504	0																0								C		0,4406		0,0,2203	113	70	85		13149	-6.6	0.9	14	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DYNC1H1	NM_001376.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		4383/4647	102514296	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13149C>T	14.37:g.102514296C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.T4383	ENST00000360184.4	37	c.13149	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom		0.647	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102514296	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	0.087	T	T	102514296	C	T	102514296	2	4	125	1	0	0	0	0	0	0	0	1	4851	639	23	2		2	DYNC1H1	14	102514296	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	28935917	102514296	4835244	39	19486										
HSP90AA1	3320	genome.wustl.edu	37	chr14	102552169	102552169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gctcatcatcgttatgtttgGtgatcacagttactttctca	7	9	4	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:102552169G>A	ENST00000216281.8	-	3	660	c.455C>T	c.(454-456)aCc>aTc	p.T152I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T274I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	152					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GTTATGTTTGGTGATCACAGT	0.463																																																	0													86	84	85					14																	102552169		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.455C>T	14.37:g.102552169G>A	ENSP00000216281:p.Thr152Ile		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.T274I	ENST00000216281.8	37	c.821	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604519	0.66445	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	D;D	0.83591	-1.74;-1.74	3.99	3.99	0.46301	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	U	0.000000	D	0.93838	0.8029	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.96104	0.9071	10	0.87932	D	0	.	16.4396	0.83895	0.0:0.0:1.0:0.0	.	274;152	P07900-2;P07900	.;HS90A_HUMAN	I	152;274	ENSP00000216281:T152I;ENSP00000335153:T274I	ENSP00000216281:T152I	T	-	2	0	HSP90AA1	101621922	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.541000	0.98083	1.950000	0.56595	0.650000	0.86243	ACC	HSP90AA1	-	pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N		0.463	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	G	NM_005348		102552169	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102552169	G	A	102552169	3	1	125	1	0	0	0	0	1	0	0	0	7421	1261	44	4	1779	4	HSP90AA1	14	102552169	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	37873	102552169	4797371	40	19487										
ASPG	374569	genome.wustl.edu	37	chr14	104559921	104559921	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	accatcgctgagtgggtttgCcttgcccagaccatcaaggt	11	12	1	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:104559921C>A	ENST00000551177.1	+	3	377	c.285C>A	c.(283-285)tgC>tgA	p.C95*	ASPG_ENST00000546892.2_Nonsense_Mutation_p.C95*|ASPG_ENST00000455920.2_Nonsense_Mutation_p.C95*	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	95	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.		C -> R (in dbSNP:rs1770984).		asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTGGGTTTGCCTTGCCCAGA	0.642																																																	0													75	87	83					14																	104559921		2076	4187	6263	SO:0001587	stop_gained	374569				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.285C>A	14.37:g.104559921C>A	ENSP00000450040:p.Cys95*		B9EGQ2|Q8IV80	Nonsense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI	p.C95*	ENST00000551177.1	37	c.285	CCDS45170.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.486366|2.486366	0.44147|0.44147	.|.	.|.	ENSG00000166183|ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920|ENST00000551170	.|.	.|.	.|.	3.57|3.57	-0.934|-0.934	0.10428|0.10428	.|.	0.458541|.	0.22121|.	N|.	0.064331|.	.|T	.|0.19927	.|0.0479	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26360	.|-1.0105	.|3	0.45353|.	T|.	0.12|.	-7.6268|-7.6268	1.0349|1.0349	0.01546|0.01546	0.1652:0.2774:0.2868:0.2707|0.1652:0.2774:0.2868:0.2707	.|.	.|.	.|.	.|.	X|T	95;123;95;95|32	.|.	ENSP00000299234:C123X|.	C|P	+|+	3|1	2|0	ASPG|ASPG	103629674|103629674	0.002000|0.002000	0.14202|0.14202	0.204000|0.204000	0.23530|0.23530	0.013000|0.013000	0.08279|0.08279	-0.087000|-0.087000	0.11215|0.11215	-0.143000|-0.143000	0.11334|0.11334	-1.434000|-1.434000	0.01081|0.01081	TGC|CCT	ASPG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI		0.642	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	C	NM_001080464		104559921	1	no_errors	ENST00000455920	ensembl	human	known	70_37	nonsense	SNP	0.013	A	A	104559921	C	A	104559921	4	1	125	1	0	0	0	0	0	1	0	0	1053	747	26	4	295	4	ASPG	14	104559921	Nonsense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	2007752	104559921	2789619	41	19488										
DISP2	85455	genome.wustl.edu	37	chr15	40660964	40660964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gatggctctggagcaaggccCcgatggcacccaggacctgg	15	13	1	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr15:40660964C>T	ENST00000267889.3	+	8	2738	c.2651C>T	c.(2650-2652)cCc>cTc	p.P884L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	884					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAGCAAGGCCCCGATGGCACC	0.642																																																	0													30	32	32					15																	40660964		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2651C>T	15.37:g.40660964C>T	ENSP00000267889:p.Pro884Leu		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.P884L	ENST00000267889.3	37	c.2651	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255512	0.22965	.	.	ENSG00000140323	ENST00000267889	T	0.12465	2.68	4.99	4.05	0.47172	.	0.299113	0.34959	N	0.003542	T	0.11324	0.0276	L	0.44542	1.39	0.40291	D	0.978505	B	0.09022	0.002	B	0.09377	0.004	T	0.11012	-1.0605	10	0.24483	T	0.36	-22.537	8.836	0.35113	0.1338:0.5579:0.3083:0.0	.	884	A7MBM2	DISP2_HUMAN	L	884	ENSP00000267889:P884L	ENSP00000267889:P884L	P	+	2	0	DISP2	38448256	0.001000	0.12720	0.817000	0.32601	0.872000	0.50106	1.401000	0.34589	1.294000	0.44707	0.555000	0.69702	CCC	DISP2	-	NULL		0.642	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40660964	1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.683	T	T	40660964	C	T	40660964	3	4	125	1	0	0	0	0	1	0	0	0	4550	623	22	4	2681	4	DISP2	15	40660964	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		40660964	61870428	42	19489										
MEF2A	4205	genome.wustl.edu	37	chr15	100211754	100211754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	aagaaggaacacagagggtgCgacagcccagaccctgatac	12	11	0	4			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr15:100211754C>T	ENST00000354410.5	+	5	917	c.288C>T	c.(286-288)tgC>tgT	p.C96C	MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000558812.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	96					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ACAGAGGGTGCGACAGCCCAG	0.348																																																	0													90	76	80					15																	100211754		1848	4082	5930	SO:0001819	synonymous_variant	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.288C>T	15.37:g.100211754C>T			B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.C96	ENST00000354410.5	37	c.288	CCDS45362.1	15																																																																																			MEF2A	-	pfam_HJURP_C		0.348	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415980.1	C			100211754	1	no_errors	ENST00000354410	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100211754	C	T	100211754	2	4	125	1	0	0	0	0	0	0	0	1	9478	776	27	2		2	MEF2A	15	100211754	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	59550790	100211754	2319638	43	19490										
DNAH3	55567	genome.wustl.edu	37	chr16	20974746	20974746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cagcaatgaactcccggaccGctggcaccattttgtcaggc	10	14	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr16:20974746G>T	ENST00000261383.3	-	53	10459	c.10460C>A	c.(10459-10461)gCg>gAg	p.A3487E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3487					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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCCGGACCGCTGGCACCAT	0.527																																																	0													91	80	84					16																	20974746		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10460C>A	16.37:g.20974746G>T	ENSP00000261383:p.Ala3487Glu		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.A3487E	ENST00000261383.3	37	c.10460	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721184	0.68959	.	.	ENSG00000158486	ENST00000261383	T	0.10099	2.91	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.60239	-0.7302	10	0.87932	D	0	.	19.4388	0.94809	0.0:0.0:1.0:0.0	.	3487	Q8TD57	DYH3_HUMAN	E	3487	ENSP00000261383:A3487E	ENSP00000261383:A3487E	A	-	2	0	DNAH3	20882247	1.000000	0.71417	0.888000	0.34837	0.027000	0.11550	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GCG	DNAH3	-	pfam_Dynein_heavy_dom		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20974746	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20974746	G	T	20974746	3	4	125	1	0	0	0	0	1	0	0	0	4613	1087	38	2	1929	2	DNAH3	16	20974746	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		20974746	69380007	44	19491										
CA7	766	genome.wustl.edu	37	chr16	66881082	66881082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tgtccctcagcatcaccaacAatggccactctgtccaggta	7	15	3	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr16:66881082A>G	ENST00000338437.2	+	2	299	c.190A>G	c.(190-192)Aat>Gat	p.N64D	CA7_ENST00000394069.3_Missense_Mutation_p.N8D|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	64					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	CATCACCAACAATGGCCACTC	0.577																																																	0													124	103	110					16																	66881082		2200	4300	6500	SO:0001583	missense	766				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"Carbonic anhydrases"	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.190A>G	16.37:g.66881082A>G	ENSP00000345659:p.Asn64Asp		Q541F0|Q86YU0	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.N64D	ENST00000338437.2	37	c.190	CCDS10821.1	16	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644659	0.67358	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.66638	-0.22;-0.22	5.08	5.08	0.68730	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.048128	0.85682	D	0.000000	T	0.70552	0.3237	M	0.84326	2.69	0.52099	D	0.999949	P	0.41848	0.763	B	0.40285	0.325	T	0.76790	-0.2829	10	0.72032	D	0.01	-24.4258	13.6839	0.62504	1.0:0.0:0.0:0.0	.	64	P43166	CAH7_HUMAN	D	64;8	ENSP00000345659:N64D;ENSP00000377632:N8D	ENSP00000345659:N64D	N	+	1	0	CA7	65438583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.842000	0.92136	1.914000	0.55421	0.533000	0.62120	AAT	CA7	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.577	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA7	HGNC	protein_coding	OTTHUMT00000268847.1	A			66881082	1	no_errors	ENST00000338437	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66881082	A	G	66881082	3	3	125	1	0	0	0	0	1	0	0	0	2527	130	5	5	196	5	CA7	16	66881082	Missense_Mutation	SNP	A	TCGA-EX-A69M-01A-11D-A32I-09	45906336	66881082	23473671	45	19492										
CBFB	865	genome.wustl.edu	37	chr16	67100636	67100636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gagtctgtgttatctggaaaGgctggattgatctccaaaga	12	6	3	2			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr16:67100636G>A	ENST00000290858.6	+	4	595	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	CBFB_ENST00000561924.2_Missense_Mutation_p.G12S|CBFB_ENST00000412916.2_Missense_Mutation_p.G112S	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	112					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TATCTGGAAAGGCTGGATTGA	0.443			T	MYH11	AML																																			Dom	yes		16	16q22	865	"core-binding factor, beta subunit"		L	0													160	140	147					16																	67100636		2200	4300	6500	SO:0001583	missense	865			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.334G>A	16.37:g.67100636G>A	ENSP00000290858:p.Gly112Ser		A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.G112S	ENST00000290858.6	37	c.334	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738948	0.69304	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83252	0.5214	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85126	0.0972	9	0.87932	D	0	-20.4461	18.1601	0.89705	0.0:0.0:1.0:0.0	.	112;112	Q13951-2;Q13951	.;PEBB_HUMAN	S	112	.	ENSP00000290858:G112S	G	+	1	0	CBFB	65658137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.578000	0.98200	2.648000	0.89879	0.561000	0.74099	GGC	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta		0.443	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	G	NM_001755		67100636	1	no_errors	ENST00000290858	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67100636	G	A	67100636	3	1	125	1	0	0	0	0	1	0	0	0	2704	1000	35	4	348	4	CBFB	16	67100636	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	219554	67100636	23254117	46	19493										
TRIM16L	147166	genome.wustl.edu	37	chr17	18638256	18638256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ccggctgcaggaggagaaccGcaaggtcaccaacaccacgc	12	15	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:18638256G>A	ENST00000449552.2	+	7	2014	c.530G>A	c.(529-531)cGc>cAc	p.R177H	TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177H|TRIM16L_ENST00000414850.2_Missense_Mutation_p.A90T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177H|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GAGGAGAACCGCAAGGTCACC	0.607																																																	0													44	40	42					17																	18638256		2203	4298	6501	SO:0001583	missense	147166			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.530G>A	17.37:g.18638256G>A	ENSP00000461386:p.Arg177His		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R231H	ENST00000449552.2	37	c.692	CCDS32588.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.644|6.644	0.487301|0.487301	0.12641|0.12641	.|.	.|.	ENSG00000108448|ENSG00000108448	ENST00000414850|ENST00000395902;ENST00000395672;ENST00000395671	.|T;T;T	.|0.13901	.|2.55;2.55;2.55	3.54|3.54	2.45|2.45	0.29901|0.29901	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.|0.370611	.|0.22137	.|U	.|0.064105	T|T	0.16214|0.16214	0.0390|0.0390	M|M	0.75264|0.75264	2.295|2.295	0.29245|0.29245	N|N	0.872389|0.872389	P|P;P;P	0.46952|0.44309	0.887|0.832;0.821;0.832	B|B;B;B	0.29176|0.40741	0.099|0.299;0.339;0.299	T|T	0.08848|0.08848	-1.0702|-1.0702	8|10	0.18276|0.52906	T|T	0.48|0.07	-16.7341|-16.7341	7.7378|7.7378	0.28825|0.28825	0.1474:0.0:0.8525:0.0|0.1474:0.0:0.8525:0.0	.|.	90|231;393;177	B4DWQ8|B4DE22;B3KMJ2;Q309B1	.|.;.;TR16L_HUMAN	T|H	90|231;177;177	.|ENSP00000379239:R231H;ENSP00000379031:R177H;ENSP00000379030:R177H	ENSP00000403648:A90T|ENSP00000379030:R177H	A|R	+|+	1|2	0|0	TRIM16L|TRIM16L	18578981|18578981	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.285000|0.285000	0.27093|0.27093	1.207000|1.207000	0.32333|0.32333	1.817000|1.817000	0.53016|0.53016	0.194000|0.194000	0.17425|0.17425	GCA|CGC	TRIM16L	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY		0.607	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	G	NM_001037330		18638256	1	no_errors	ENST00000395902	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18638256	G	A	18638256	3	1	125	1	0	0	0	0	1	0	0	0	16523	1087	38	2	544	2	TRIM16L	17	18638256	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		18638256	62556954	47	19494										
FZD2	2535	genome.wustl.edu	37	chr17	42636381	42636381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cgtgtcgctcttccgcatccGcaccatcatgaagcacgacg	9	16	2	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:42636381G>A	ENST00000315323.3	+	1	1457	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	442					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCGCATCCGCACCATCATG	0.637																																																	0													105	94	98					17																	42636381		2203	4300	6503	SO:0001583	missense	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1325G>A	17.37:g.42636381G>A	ENSP00000323901:p.Arg442His		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R442H	ENST00000315323.3	37	c.1325	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	27.2	4.813768	0.90790	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.85702	-2.02	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95248	0.8357	10	0.87932	D	0	.	18.433	0.90633	0.0:0.0:1.0:0.0	.	442	Q14332	FZD2_HUMAN	H	518;442	ENSP00000323901:R442H	ENSP00000323901:R442H	R	+	2	0	FZD2	39991907	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.857000	0.99534	2.436000	0.82500	0.561000	0.74099	CGC	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like		0.637	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	G	NM_001466		42636381	1	no_errors	ENST00000315323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42636381	G	A	42636381	3	1	125	1	0	0	0	0	1	0	0	0	6148	1087	38	2	1327	2	FZD2	17	42636381	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	23998125	42636381	38558829	48	19495										
SFRS1	6426	genome.wustl.edu	37	chr17	56083298	56083298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cacctgcttcacgcatgtgaTcctttaaatcctgccaactt	5	14	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:56083298T>C	ENST00000258962.4	-	3	624	c.416A>G	c.(415-417)gAt>gGt	p.D139G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.D139G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.D139G	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	139	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGCATGTGATCCTTTAAATC	0.403																																																	0													100	80	87					17																	56083298		2203	4300	6503	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.416A>G	17.37:g.56083298T>C	ENSP00000258962:p.Asp139Gly		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D139G	ENST00000258962.4	37	c.416	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489691	0.44249	.	.	ENSG00000136450	ENST00000258962	T	0.19250	2.16	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68739	-0.5329	10	0.87932	D	0	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	171;139	Q59FA2;Q07955	.;SRSF1_HUMAN	G	139	ENSP00000258962:D139G	ENSP00000258962:D139G	D	-	2	0	SRSF1	53438297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.281000	0.76405	0.528000	0.53228	GAT	SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.403	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1	T	NM_006924		56083298	-1	no_errors	ENST00000258962	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56083298	T	C	56083298	3	2	125	1	0	0	0	0	1	0	0	0	14195	1435	50	5	392	5	SFRS1	17	56083298	Missense_Mutation	SNP	T	TCGA-EX-A69M-01A-11D-A32I-09	13446917	56083298	25111912	49	19496										
ITGB4	2584	genome.wustl.edu	37	chr17	73751271	73751271	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tataatcctggctgggaggcCagcagcgccctcctggggcc	14	14	0	0	rs148725082		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:73751271C>T	ENST00000225614.2	-	8	1301				ITGB4_ENST00000200181.3_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.P1495L|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1495L|ITGB4_ENST00000450894.3_Intron			P51570	GALK1_HUMAN	galactokinase 1						carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGGAGGCCAGCAGCGCCC	0.657																																																	0													25	29	28					17																	73751271		2203	4299	6502	SO:0001627	intron_variant	3691				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000225614.2:c.1176+2843G>A	17.37:g.73751271C>T			B2RC07|B4E1G6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.P1495L	ENST00000225614.2	37	c.4484	CCDS11728.1	17	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541393	0.65085	.	.	ENSG00000132470	ENST00000339591;ENST00000449880	T;T	0.73469	-0.75;-0.75	5.26	5.26	0.73747	.	.	.	.	.	T	0.71484	0.3345	.	.	.	0.80722	D	1	P	0.39250	0.665	B	0.43728	0.429	T	0.68006	-0.5523	8	0.23302	T	0.38	.	16.0285	0.80560	0.0:1.0:0.0:0.0	.	1495	P16144-3	.	L	1495	ENSP00000344079:P1495L;ENSP00000400217:P1495L	ENSP00000344079:P1495L	P	+	2	0	ITGB4	71262866	0.972000	0.33761	1.000000	0.80357	0.986000	0.74619	2.058000	0.41374	2.455000	0.83008	0.561000	0.74099	CCA	ITGB4	-	pirsf_Integrin_bsu-4		0.657	GALK1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448427.1	C			73751271	1	no_errors	ENST00000339591	ensembl	human	known	70_37	missense	SNP	0.995	T	T	73751271	C	T	73751271	1	4	125	0	1	0	0	0	0	0	0	0	7917	594	21	4		4	ITGB4	17	73751271	Intron	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	17667973	73751271	7443939	50	19497										
CDH7	1005	genome.wustl.edu	37	chr18	63511149	63511149	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ttgggtccgttcagtgacacGacaactgtgaagataattgt	11	7	1	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr18:63511149G>A	ENST00000397968.2	+	7	1509	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	CDH7_ENST00000536984.2_Silent_p.T361T|CDH7_ENST00000323011.3_Silent_p.T361T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	361	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAGTGACACGACAACTGTGA	0.483																																																	0													167	141	150					18																	63511149		2203	4300	6503	SO:0001819	synonymous_variant	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1083G>A	18.37:g.63511149G>A			Q9H157	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T361	ENST00000397968.2	37	c.1083	CCDS11993.1	18																																																																																			CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63511149	1	no_errors	ENST00000323011	ensembl	human	known	70_37	silent	SNP	0.570	A	A	63511149	G	A	63511149	2	1	125	1	0	0	0	0	0	0	0	1	3120	1045	37	1		1	CDH7	18	63511149	Silent	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		63511149	14566099	51	19498										
CBLC	23624	genome.wustl.edu	37	chr19	45295767	45295767	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cagctgctgcctggctgcctGgcaggtgggtctgacccctg	15	14	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:45295767G>A	ENST00000270279.3	+	7	1196	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	CBLC_ENST00000341505.4_Nonsense_Mutation_p.W332*	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	378	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTGGCTGCCTGGCAGGTGGGT	0.582			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													61	59	60					19																	45295767		2203	4300	6503	SO:0001587	stop_gained	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1133G>A	19.37:g.45295767G>A	ENSP00000270279:p.Trp378*		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Nonsense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.W378*	ENST00000270279.3	37	c.1133	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	37	6.228511	0.97394	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	.	.	.	4.28	4.28	0.50868	.	0.000000	0.40302	N	0.001134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7528	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	X	378;332	.	ENSP00000270279:W378X	W	+	2	0	CBLC	49987607	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.789000	0.91839	2.404000	0.81709	0.643000	0.83706	TGG	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.582	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	G	NM_012116		45295767	1	no_errors	ENST00000270279	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	45295767	G	A	45295767	4	1	125	1	0	0	0	0	0	1	0	0	2707	1357	47	4	1159	4	CBLC	19	45295767	Nonsense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		45295767	13833216	52	19499										
PPP1R13L	10848	genome.wustl.edu	37	chr19	45895174	45895174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tctggtgggctgctctgggaCggggccgggggtggaatggg	23	7	2	0	rs148594569	byFrequency	TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:45895174C>T	ENST00000418234.2	-	8	1857	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	PPP1R13L_ENST00000360957.5_Silent_p.P593P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	593	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGCTCTGGGACGGGGCCGGGG	0.637													C|||	2	0.000399361	8e-04	0	5008	,	,		14911	0		0	False		,,,				2504	0.001				Pancreas(61;1447 1663 31419 50578)												0								C	,	0,4400		0,0,2200	25	30	29		1779,1779	-9.9	0	19	dbSNP_134	29	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	PPP1R13L	NM_001142502.1,NM_006663.3	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	593/829,593/829	45895174	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1779G>A	19.37:g.45895174C>T			Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P593	ENST00000418234.2	37	c.1779	CCDS33050.1	19																																																																																			PPP1R13L	-	superfamily_SH3_domain		0.637	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	C	NM_006663		45895174	-1	no_errors	ENST00000360957	ensembl	human	known	70_37	silent	SNP	0.000	T	T	45895174	C	T	45895174	2	4	125	1	0	0	0	0	0	0	0	1	12385	523	19	2		2	PPP1R13L	19	45895174	Silent	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	599407	45895174	13233809	53	19500										
ZNF784	147808	genome.wustl.edu	37	chr19	56133145	56133145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	cggcctccaccttcaccttcGcggtctccccccgcccctcc	6	25	2	0			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:56133145G>T	ENST00000325351.4	-	2	983	c.944C>A	c.(943-945)gCg>gAg	p.A315E	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	315					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTTCACCTTCGCGGTCTCCCC	0.716																																																	0													27	28	27					19																	56133145		2203	4300	6503	SO:0001583	missense	147808			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.944C>A	19.37:g.56133145G>T	ENSP00000320096:p.Ala315Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A315E	ENST00000325351.4	37	c.944	CCDS12930.1	19	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472450	0.43942	.	.	ENSG00000179922	ENST00000325351	T	0.08282	3.11	3.53	-6.99	0.01605	.	1.031410	0.07812	N	0.958350	T	0.03608	0.0103	N	0.19112	0.55	0.09310	N	0.999996	B	0.13594	0.008	B	0.12837	0.008	T	0.43410	-0.9393	10	0.37606	T	0.19	-0.038	0.2998	0.00271	0.3601:0.1388:0.2208:0.2803	.	315	Q8NCA9	ZN784_HUMAN	E	315	ENSP00000320096:A315E	ENSP00000320096:A315E	A	-	2	0	ZNF784	60824957	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.754000	0.04787	-1.026000	0.03330	0.313000	0.20887	GCG	ZNF784	-	NULL		0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF784	HGNC	protein_coding	OTTHUMT00000453355.2	G	NM_203374		56133145	-1	no_errors	ENST00000325351	ensembl	human	known	70_37	missense	SNP	0.000	T	T	56133145	G	T	56133145	3	4	125	1	0	0	0	0	1	0	0	0	18186	1087	38	2	31	2	ZNF784	19	56133145	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	10237971	56133145	2995838	54	19501										
ZNF417	147687	genome.wustl.edu	37	chr19	58420942	58420942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	acacataacatccatctctaGtgaaaagtttctggtgtgga	8	8	2	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:58420942G>C	ENST00000312026.5	-	3	868	c.704C>G	c.(703-705)aCt>aGt	p.T235S	ZNF417_ENST00000595559.1_Missense_Mutation_p.T234S|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.T36S	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCCATCTCTAGTGAAAAGTTT	0.423																																																	0													18	18	18					19																	58420942		2089	4195	6284	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.704C>G	19.37:g.58420942G>C	ENSP00000311319:p.Thr235Ser		B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T235S	ENST00000312026.5	37	c.704	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	12.62	1.991875	0.35131	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.32515	1.45;1.45	2.04	0.307	0.15811	.	.	.	.	.	T	0.24122	0.0584	L	0.45137	1.4	0.23254	N	0.998034	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.22836	-1.0205	9	0.49607	T	0.09	.	7.8627	0.29520	0.0:0.4225:0.5775:0.0	.	235;235	F5H0M9;Q8TAU3	.;ZN417_HUMAN	S	235;36	ENSP00000311319:T235S;ENSP00000442760:T36S	ENSP00000311319:T235S	T	-	2	0	ZNF417	63112754	0.020000	0.18652	0.004000	0.12327	0.766000	0.43426	-0.063000	0.11655	-0.037000	0.13646	0.291000	0.19559	ACT	ZNF417	-	NULL		0.423	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	G	NM_152475		58420942	-1	no_errors	ENST00000312026	ensembl	human	known	70_37	missense	SNP	0.961	C	C	58420942	G	C	58420942	3	2	125	1	0	0	0	0	1	0	0	0	17924	1029	36	4	1027	4	ZNF417	19	58420942	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	2287797	58420942	708041	55	19502										
KRTAP20-1	337975	genome.wustl.edu	37	chr21	31988847	31988847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tggctatggctgtggttatcGtggctatggatgtggttatg	16	4	0	0	rs144753762		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr21:31988847G>A	ENST00000334664.2	+	1	98	c.74G>A	c.(73-75)cGt>cAt	p.R25H	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	25						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TGTGGTTATCGTGGCTATGGA	0.458													G|||	1	0.000199681	0	0	5008	,	,		18514	0		0.001	False		,,,				2504	0																0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	311	260	277		74	0.6	0	21	dbSNP_134	277	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRTAP20-1	NM_181615.1	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	25/57	31988847	3,13003	2203	4300	6503	SO:0001583	missense	337975			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"Keratin associated proteins"	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.74G>A	21.37:g.31988847G>A	ENSP00000335503:p.Arg25His			Missense_Mutation	SNP	pfam_KRTAP	p.R25H	ENST00000334664.2	37	c.74	CCDS13603.1	21	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537826	0.13188	4.54E-4	1.16E-4	ENSG00000244624	ENST00000334664	T	0.09630	2.96	3.53	0.598	0.17512	.	.	.	.	.	T	0.08179	0.0204	.	.	.	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.31971	-0.9924	8	0.87932	D	0	.	6.1441	0.20276	0.3684:0.0:0.6316:0.0	.	25	Q3LI63	KR201_HUMAN	H	25	ENSP00000335503:R25H	ENSP00000335503:R25H	R	+	2	0	KRTAP20-1	30910718	0.006000	0.16342	0.003000	0.11579	0.122000	0.20287	0.066000	0.14489	-0.009000	0.14296	-0.772000	0.03388	CGT	KRTAP20-1	-	pfam_KRTAP		0.458	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	G			31988847	1	no_errors	ENST00000334664	ensembl	human	known	70_37	missense	SNP	0.006	A	A	31988847	G	A	31988847	3	1	125	1	0	0	0	0	1	0	0	0	8556	1145	40	2	76	2	KRTAP20-1	21	31988847	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		31988847	16141048	56	19503										
PPM1F	9647	genome.wustl.edu	37	chr22	22280022	22280022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	agccacccaatgcttcaatgCgcgccttctcatcctgcaga	7	16	2	1	rs549205418		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr22:22280022C>T	ENST00000263212.5	-	7	1010	c.905G>A	c.(904-906)cGc>cAc	p.R302H	PPM1F_ENST00000397495.4_Missense_Mutation_p.R302H|PPM1F_ENST00000407142.1_Missense_Mutation_p.R134H|PPM1F_ENST00000538191.1_Missense_Mutation_p.R198H	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	302					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGCTTCAATGCGCGCCTTCTC	0.627																																																	0													61	49	53					22																	22280022		2203	4300	6503	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.905G>A	22.37:g.22280022C>T	ENSP00000263212:p.Arg302His		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R302H	ENST00000263212.5	37	c.905	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546539	0.86022	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.11	5.11	0.69529	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.90937	0.4794	10	0.87932	D	0	-15.7974	18.7172	0.91679	0.0:1.0:0.0:0.0	.	198;302;302	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	H	302;134;134;198;302	ENSP00000263212:R302H;ENSP00000384930:R134H;ENSP00000439915:R198H;ENSP00000380632:R302H	ENSP00000263212:R302H	R	-	2	0	PPM1F	20610022	1.000000	0.71417	0.983000	0.44433	0.160000	0.22226	7.369000	0.79578	2.665000	0.90641	0.655000	0.94253	CGC	PPM1F	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	C	NM_014634		22280022	-1	no_errors	ENST00000263212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22280022	C	T	22280022	3	4	125	1	0	0	0	0	1	0	0	0	12366	768	27	2	467	2	PPM1F	22	22280022	Missense_Mutation	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09		22280022	29024544	57	19504										
MTMR3	8897	genome.wustl.edu	37	chr22	30415898	30415898	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	gaactgggtgatgctgctctGaggagccatctggatatgag	15	7	2	3			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr22:30415898G>A	ENST00000401950.2	+	17	2592	c.2250G>A	c.(2248-2250)ctG>ctA	p.L750L	CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Silent_p.L750L|MTMR3_ENST00000323630.5_Silent_p.L614L|MTMR3_ENST00000406629.1_Silent_p.L750L|MTMR3_ENST00000351488.3_Silent_p.L750L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	750					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGCTGCTCTGAGGAGCCATC	0.547																																																	0													74	73	73					22																	30415898		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2250G>A	22.37:g.30415898G>A			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L750	ENST00000401950.2	37	c.2250	CCDS13870.1	22																																																																																			MTMR3	-	NULL		0.547	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	G	NM_021090		30415898	1	no_errors	ENST00000401950	ensembl	human	known	70_37	silent	SNP	0.001	A	A	30415898	G	A	30415898	2	1	125	1	0	0	0	0	0	0	0	1	9968	1277	45	1		1	MTMR3	22	30415898	Silent	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	8135876	30415898	20888668	58	19505										
PIR	8544	genome.wustl.edu	37	chrX	15444055	15444055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	ggataggttgggaatgtttgGctcctgggtccaatttgaag	15	5	0	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:15444055G>A	ENST00000380421.3	-	6	999	c.539C>T	c.(538-540)gCc>gTc	p.A180V	PIR_ENST00000380420.5_Missense_Mutation_p.A180V	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	180					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					GGAATGTTTGGCTCCTGGGTC	0.393																																					Ovarian(180;1587 2015 10555 34192 51653)												0													153	147	149					X																	15444055		2203	4300	6503	SO:0001583	missense	8544			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.539C>T	X.37:g.15444055G>A	ENSP00000369786:p.Ala180Val		Q5U0G0|Q6FHD2	Missense_Mutation	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.A180V	ENST00000380421.3	37	c.539	CCDS14167.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043479	0.36085	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.49432	0.78;0.78	5.63	5.63	0.86233	Cupin, RmlC-type (1);Pirin, C-terminal (1);RmlC-like jelly roll fold (1);	0.163209	0.53938	D	0.000053	T	0.48223	0.1488	M	0.74258	2.255	0.52501	D	0.999958	P	0.41929	0.765	B	0.36959	0.237	T	0.54268	-0.8319	10	0.46703	T	0.11	.	13.9518	0.64123	0.0:0.0:1.0:0.0	.	180	O00625	PIR_HUMAN	V	180	ENSP00000369785:A180V;ENSP00000369786:A180V	ENSP00000369785:A180V	A	-	2	0	PIR	15353976	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.804000	0.69135	2.365000	0.80145	0.594000	0.82650	GCC	PIR	-	pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin		0.393	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	G	NM_003662		15444055	-1	no_errors	ENST00000380420	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15444055	G	A	15444055	3	1	125	1	0	0	0	0	1	0	0	0	11968	1203	42	4	353	4	PIR	23	15444055	Missense_Mutation	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09		15444055	139826505	59	19506										
CASK	8573	genome.wustl.edu	37	chrX	41481887	41481887	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tactttctgctgctagaagtCctaggaggaaggcagcatat	11	8	1	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:41481887C>T	ENST00000378163.1	-	11	1490	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	CASK_ENST00000378154.1_Splice_Site_p.G339E|CASK_ENST00000442742.2_Splice_Site_p.G339E|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Splice_Site_p.G339E|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Splice_Site_p.G339E			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	339					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGCTAGAAGTCCTAGGAGGAA	0.423																																					NSCLC(42;104 1086 3090 27189 35040)												0													86	62	70					X																	41481887		2202	4296	6498	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1016-1G>A	X.37:g.41481887C>T			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.G339E	ENST00000378163.1	37	c.1016		X	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140082	0.56936	.	.	ENSG00000147044	ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T	0.66460	-0.2;-0.2;-0.2;-0.2;-0.21	5.81	5.81	0.92471	.	.	.	.	.	T	0.72938	0.3523	N	0.24115	0.695	0.80722	D	1	D;B;B	0.76494	0.999;0.009;0.009	D;B;B	0.80764	0.994;0.004;0.007	T	0.73269	-0.4036	9	0.40728	T	0.16	.	19.0171	0.92899	0.0:1.0:0.0:0.0	.	339;339;339	O14936-4;O14936-2;O14936	.;.;CSKP_HUMAN	E	339	ENSP00000367405:G339E;ENSP00000367400:G339E;ENSP00000367408:G339E;ENSP00000398007:G339E;ENSP00000367396:G339E	ENSP00000367396:G339E	G	-	2	0	CASK	41366831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.440000	0.82611	0.600000	0.82982	GGA	CASK	-	NULL		0.423	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688	Missense_Mutation	41481887	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41481887	C	T	41481887	5	4	125	1	0	0	0	0	0	0	1	0	2670	869	30	1	1832	1	CASK	23	41481887	Splice_Site	SNP	C	TCGA-EX-A69M-01A-11D-A32I-09	26037832	41481887	113788673	60	19507										
SATL1	340562	genome.wustl.edu	37	chrX	84362391	84362391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	0.396380909145362	1.28174936921783	2.91954022988506	1.1524500907441	0.102564102564103	0.27256761503337	0	tctgcatgtcttatttgaaaGtaatccatgcttgtttgcct	7	8	2	1			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:84362391G>A	ENST00000395409.3	-	1	1583	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	SATL1_ENST00000332921.5_Silent_p.Y341Y|SATL1_ENST00000509231.1_Silent_p.Y528Y			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	341							N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTATTTGAAAGTAATCCATGC	0.463																																																	0													101	82	88					X																	84362391		2203	4300	6503	SO:0001819	synonymous_variant	340562			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1023C>T	X.37:g.84362391G>A			A0AVK7|E9PB72|Q5H8V9	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.Y528	ENST00000395409.3	37	c.1584		X																																																																																			SATL1	-	superfamily_Acyl_CoA_acyltransferase		0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		G	XM_291339		84362391	-1	no_errors	ENST00000509231	ensembl	human	known	70_37	silent	SNP	0.003	A	A	84362391	G	A	84362391	2	1	125	1	0	0	0	0	0	0	0	1	13885	1024	36	4		4	SATL1	23	84362391	Silent	SNP	G	TCGA-EX-A69M-01A-11D-A32I-09	42880504	84362391	70908169	61	19508										
CROCC	9696	genome.wustl.edu	37	chr1	17285209	17285209	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggcctccggcagaggctgctGaagggcgaggccagcctgga	18	12	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:17285209G>A	ENST00000375541.5	+	26	4065	c.3996G>A	c.(3994-3996)ctG>ctA	p.L1332L		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.L1332L(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGCTGCTGAAGGGCGAGG	0.711																																																	1	Substitution - coding silent(1)	cervix(1)											7	8	7					1																	17285209		2149	4227	6376	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3996G>A	1.37:g.17285209G>A				Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.L1332	ENST00000375541.5	37	c.3996	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17285209	1	no_errors	ENST00000375541	ensembl	human	known	70_37	silent	SNP	0.929	A	A	17285209	G	A	17285209	2	1	126	1	0	0	0	0	0	0	0	1	3898	1277	45	1		1	CROCC	1	17285209	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		17285209	231965412	1	19509										
ALDH4A1	8659	genome.wustl.edu	37	chr1	19204081	19204081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acgtcggccgagcggtgcacGaagtggaagttctttccgcc	14	12	1	0	rs150927009		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:19204081G>A	ENST00000375341.3	-	10	1223	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ALDH4A1_ENST00000538309.1_Silent_p.F262F|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.F322F|ALDH4A1_ENST00000538839.1_Silent_p.F322F	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	322					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.F322F(4)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGTGCACGAAGTGGAAGT	0.657																																																	4	Substitution - coding silent(4)	cervix(2)|lung(2)											23	23	23					1																	19204081		2203	4300	6503	SO:0001819	synonymous_variant	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.966C>T	1.37:g.19204081G>A			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.F322	ENST00000375341.3	37	c.966	CCDS188.1	1																																																																																			ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	G			19204081	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	silent	SNP	0.003	A	A	19204081	G	A	19204081	2	1	126	1	0	0	0	0	0	0	0	1	501	1049	37	1		1	ALDH4A1	1	19204081	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	1918872	19204081	230046540	2	19510										
UBR4	23352	genome.wustl.edu	37	chr1	19484358	19484358	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gttggcggcgcccatggggaGaggagagcacacacatagcc	16	11	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:19484358G>C	ENST00000375254.3	-	40	5738	c.5711C>G	c.(5710-5712)tCt>tGt	p.S1904C	UBR4_ENST00000375267.2_Missense_Mutation_p.S1904C|UBR4_ENST00000375226.2_Missense_Mutation_p.S1904C|UBR4_ENST00000375217.2_Missense_Mutation_p.S1904C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1904					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1904C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCATGGGGAGAGGAGAGCAC	0.542																																																	1	Substitution - Missense(1)	cervix(1)											136	130	132					1																	19484358		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5711C>G	1.37:g.19484358G>C	ENSP00000364403:p.Ser1904Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1904C	ENST00000375254.3	37	c.5711	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955117	0.92726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;3.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.49952	-0.8884	10	0.87932	D	0	.	19.1006	0.93272	0.0:0.0:1.0:0.0	.	1904	Q5T4S7	UBR4_HUMAN	C	1904;1904;1904;1904;614;1120	ENSP00000364403:S1904C;ENSP00000364416:S1904C;ENSP00000364365:S1904C;ENSP00000364374:S1904C;ENSP00000404897:S614C	ENSP00000364365:S1904C	S	-	2	0	UBR4	19356945	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.447000	0.97595	2.503000	0.84419	0.591000	0.81541	TCT	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19484358	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19484358	G	C	19484358	3	2	126	1	0	0	0	0	1	0	0	0	16935	942	33	1	10108	1	UBR4	1	19484358	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	280277	19484358	229766263	3	19511										
DLGAP3	58512	genome.wustl.edu	37	chr1	35365805	35365805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tttgatgtagctgccgctccGcatcctgcggcaggggatct	13	12	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:35365805G>A	ENST00000373347.1	-	4	1445	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R393W			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	393					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.R393W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGCCGCTCCGCATCCTGCGG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											98	97	98					1																	35365805		2203	4300	6503	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1177C>T	1.37:g.35365805G>A	ENSP00000362444:p.Arg393Trp		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.R393W	ENST00000373347.1	37	c.1177	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459750	0.84317	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.18502	2.21;2.21	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.36407	-0.9749	10	0.87932	D	0	-14.0028	12.3663	0.55230	0.0:0.0:0.8314:0.1686	.	393	O95886	DLGP3_HUMAN	W	393;393;76	ENSP00000362444:R393W;ENSP00000235180:R393W	ENSP00000235180:R393W	R	-	1	2	DLGAP3	35138392	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.647000	0.54403	2.296000	0.77279	0.313000	0.20887	CGG	DLGAP3	-	NULL		0.632	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35365805	-1	no_errors	ENST00000235180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35365805	G	A	35365805	3	1	126	1	0	0	0	0	1	0	0	0	4571	1086	38	2	1798	2	DLGAP3	1	35365805	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	15881447	35365805	213884816	4	19512										
RLF	6018	genome.wustl.edu	37	chr1	40706021	40706021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	taaaacagcttcattatcttCggccagtggtggttcttgaa	9	8	3	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:40706021C>T	ENST00000372771.4	+	8	5674	c.5647C>T	c.(5647-5649)Cgg>Tgg	p.R1883W		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1883					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1883W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCATTATCTTCGGCCAGTGGT	0.388																																																	1	Substitution - Missense(1)	cervix(1)											87	91	90					1																	40706021		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5647C>T	1.37:g.40706021C>T	ENSP00000361857:p.Arg1883Trp		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1883W	ENST00000372771.4	37	c.5647	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574801	0.45902	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.21031	2.03	5.35	5.35	0.76521	.	0.112220	0.64402	D	0.000020	T	0.40839	0.1133	L	0.46157	1.445	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.07366	-1.0776	10	0.87932	D	0	-9.6313	15.972	0.80027	0.1349:0.8651:0.0:0.0	.	1576;1883	F5H2M5;Q13129	.;RLF_HUMAN	W	1883;1576	ENSP00000361857:R1883W	ENSP00000361857:R1883W	R	+	1	2	RLF	40478608	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.553000	0.45837	2.941000	0.99782	0.655000	0.94253	CGG	RLF	-	NULL		0.388	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	C	NM_012421		40706021	1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40706021	C	T	40706021	3	4	126	1	0	0	0	0	1	0	0	0	13419	875	31	1	5677	1	RLF	1	40706021	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	5340216	40706021	208544600	5	19513										
PRPF38A	84950	genome.wustl.edu	37	chr1	52882338	52882338	+	Missense_Mutation	SNP	G	G	C													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aggtctaagaagagccacaaGaagagccggagagggaatga							TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:52882338G>C	ENST00000257181.9	+	10	1101	c.915G>C	c.(913-915)aaG>aaC	p.K305N	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	305					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K305N(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGAGCCACAAGAAGAGCCGGA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											82	82	82					1																	52882338		2203	4300	6503	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.915G>C	1.37:g.52882338G>C	ENSP00000257181:p.Lys305Asn		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.K305N	ENST00000257181.9	37	c.915	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414435	0.62511	.	.	ENSG00000134748	ENST00000257181	T	0.80214	-1.35	5.74	5.74	0.90152	.	0.099426	0.64402	D	0.000002	T	0.78136	0.4236	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.80219	-0.1473	10	0.48119	T	0.1	-27.4249	12.7081	0.57073	0.1172:0.0:0.8828:0.0	.	305	Q8NAV1	PR38A_HUMAN	N	305	ENSP00000257181:K305N	ENSP00000257181:K305N	K	+	3	2	PRPF38A	52654926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.037000	0.64170	2.731000	0.93534	0.644000	0.83932	AAG	PRPF38A	-	NULL		0.448	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882338	1	no_errors	ENST00000257181	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52882338	G	C	52882338	3	2	126	1	0	0	0	0	1	0	0	0	12594	933	33	1	953	1	PRPF38A	1	52882338	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	12176317	52882338	196368283	6	19514	114	2								
PRPF38A	84950	genome.wustl.edu	37	chr1	52882347	52882347	+	Silent	SNP	G	G	C													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aagagccacaagaagagccgGagagggaatgagtaatggac							TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:52882347G>C	ENST00000257181.9	+	10	1110	c.924G>C	c.(922-924)cgG>cgC	p.R308R	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R308R(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGAAGAGCCGGAGAGGGAATG	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											88	88	88					1																	52882347		2203	4300	6503	SO:0001819	synonymous_variant	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.924G>C	1.37:g.52882347G>C			Q96JW1|Q9BVZ8	Silent	SNP	pfam_PRP38	p.R308	ENST00000257181.9	37	c.924	CCDS567.1	1																																																																																			PRPF38A	-	NULL		0.458	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882347	1	no_errors	ENST00000257181	ensembl	human	known	70_37	silent	SNP	1.000	C	C	52882347	G	C	52882347	2	2	126	1	0	0	0	0	0	0	0	1	12594	1161	41	1		1	PRPF38A	1	52882347	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	9	52882347	196368274	7	19515	114	2								
COL24A1	255631	genome.wustl.edu	37	chr1	86590534	86590534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aaaaaaaaacttacgggaggTccagtgtctccttttggccc	9	10	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:86590534T>C	ENST00000370571.2	-	3	1851	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	COL24A1_ENST00000436319.1_Silent_p.G495G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	495	Collagen-like 1.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTACGGGAGGTCCAGTGTCTC	0.308																																																	0													39	37	37					1																	86590534		1800	4065	5865	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1485A>G	1.37:g.86590534T>C			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G495	ENST00000370571.2	37	c.1485	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen		0.308	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	T	NM_152890		86590534	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	silent	SNP	1.000	C	C	86590534	T	C	86590534	2	2	126	1	0	0	0	0	0	0	0	1	3688	1654	58	5		5	COL24A1	1	86590534	Silent	SNP	T	TCGA-FU-A23K-01A-11D-A16O-08	33708187	86590534	162660087	8	19516										
BARHL2	343472	genome.wustl.edu	37	chr1	91182267	91182268	+	Missense_Mutation	DNP	GG	GG	AA													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tggtggggagaggatacgctGgtgctgtagggtgcacatgc							TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:91182267_91182268GG>AA	ENST00000370445.4	-	1	526_527	c.485_486CC>TT	c.(484-486)aCC>aTT	p.T162I		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	162					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.T162I(1)|p.T162T(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AGGATACGCTGGTGCTGTAGGG	0.594																																					GBM(199;3561 4100 22440)												2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)																																								SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.485_486delinsAA	1.37:g.91182267_91182268delinsAA	ENSP00000359474:p.Thr162Ile		A0AVP2|Q7Z4N7	Silent|Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.T162|p.T162I	ENST00000370445.4	37	c.486|c.485	CCDS730.1	1																																																																																			BARHL2	-	NULL		0.594	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	G			91182267|91182268	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	silent|missense	SNP	1.000	A	AA	91182268	GG	AA	91182267	3	1	126	1	0	0	0	0	1	0	0	0	1315	1335	47	4	689	4	BARHL2	1	91182267	Missense_Mutation	DNP	GG	TCGA-FU-A23K-01A-11D-A16O-08	4591733	91182267	158068354	9	19517										
CCDC76	54482	genome.wustl.edu	37	chr1	100608696	100608696	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	atgttctgtttgtgcaggtgGatggaaaacacagaaagaaa	12	4	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:100608696G>C	ENST00000370141.2	+	8	679	c.673G>C	c.(673-675)Gat>Cat	p.D225H	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	225					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.D225H(1)									TGTGCAGGTGGATGGAAAACA	0.284																																																	1	Substitution - Missense(1)	cervix(1)											85	83	84					1																	100608696		2203	4298	6501	SO:0001583	missense	54482			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.673G>C	1.37:g.100608696G>C	ENSP00000359160:p.Asp225His		Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.D225H	ENST00000370141.2	37	c.673	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423780	0.83667	.	.	ENSG00000122435	ENST00000370141	T	0.65732	-0.17	5.31	5.31	0.75309	Methyltransferase TRM13 (1);	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87598	0.2495	10	0.87932	D	0	-23.9584	18.967	0.92700	0.0:0.0:1.0:0.0	.	211;225	B4DQS9;Q9NUP7	.;TRM13_HUMAN	H	225	ENSP00000359160:D225H	ENSP00000359160:D225H	D	+	1	0	CCDC76	100381284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.355000	0.90083	2.486000	0.83907	0.650000	0.86243	GAT	TRMT13	-	pfam_Methyltransferase_TRM13		0.284	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	G	NM_019083		100608696	1	no_errors	ENST00000370141	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100608696	G	C	100608696	3	2	126	1	0	0	0	0	1	0	0	0	2855	1174	41	1	703	1	CCDC76	1	100608696	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	9426429	100608696	148641925	10	19518										
CA14	23632	genome.wustl.edu	37	chr1	150237017	150237017	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aagaggctggaaaaccgaaaGagtgtggtcttcacctcagc	12	9	3	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:150237017G>C	ENST00000369111.4	+	11	1942	c.972G>C	c.(970-972)aaG>aaC	p.K324N	APH1A_ENST00000461320.1_5'Flank|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	324					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.K324N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AAAACCGAAAGAGTGTGGTCT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											96	75	82					1																	150237017		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.972G>C	1.37:g.150237017G>C	ENSP00000358107:p.Lys324Asn		Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K324N	ENST00000369111.4	37	c.972	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724153	0.68959	.	.	ENSG00000118298	ENST00000369111	T	0.69435	-0.4	5.67	-0.245	0.13027	.	0.095628	0.53938	D	0.000049	T	0.52645	0.1747	N	0.24115	0.695	0.32905	D	0.513689	D	0.71674	0.998	D	0.78314	0.991	T	0.57225	-0.7848	10	0.56958	D	0.05	.	8.9271	0.35648	0.4348:0.0:0.5652:0.0	.	324	Q9ULX7	CAH14_HUMAN	N	324	ENSP00000358107:K324N	ENSP00000358107:K324N	K	+	3	2	CA14	148503641	0.993000	0.37304	0.881000	0.34555	0.914000	0.54420	-0.047000	0.11963	-0.327000	0.08551	0.643000	0.83706	AAG	CA14	-	NULL		0.463	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	G	NM_012113		150237017	1	no_errors	ENST00000369111	ensembl	human	known	70_37	missense	SNP	0.980	C	C	150237017	G	C	150237017	3	2	126	1	0	0	0	0	1	0	0	0	2520	933	33	1	1014	1	CA14	1	150237017	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	49628321	150237017	99013604	11	19519										
CRTC2	200186	genome.wustl.edu	37	chr1	153927568	153927568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tcggccaggccagagccaatCtggttaacattgggcagaga	13	10	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:153927568C>G	ENST00000368633.1	-	2	355	c.228G>C	c.(226-228)caG>caC	p.Q76H	CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	76					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.Q76H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGCCAATCTGGTTAACAT	0.532																																																	1	Substitution - Missense(1)	cervix(1)											78	78	78					1																	153927568		2203	4300	6503	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.228G>C	1.37:g.153927568C>G	ENSP00000357622:p.Gln76His		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.Q76H	ENST00000368633.1	37	c.228	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539748	0.65085	.	.	ENSG00000160741	ENST00000368633	T	0.20881	2.04	4.68	3.77	0.43336	.	0.156269	0.42821	D	0.000643	T	0.24547	0.0595	L	0.50333	1.59	0.36358	D	0.860486	D	0.67145	0.996	D	0.75484	0.986	T	0.05533	-1.0879	10	0.72032	D	0.01	-9.8487	8.4177	0.32681	0.0:0.8933:0.0:0.1067	.	76	Q53ET0	CRTC2_HUMAN	H	76	ENSP00000357622:Q76H	ENSP00000357622:Q76H	Q	-	3	2	CRTC2	152194192	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.919000	0.56439	1.193000	0.43086	0.305000	0.20034	CAG	CRTC2	-	NULL		0.532	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	C	NM_181715		153927568	-1	no_errors	ENST00000368633	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153927568	C	G	153927568	3	3	126	1	0	0	0	0	1	0	0	0	3905	912	32	1	1905	1	CRTC2	1	153927568	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	3690551	153927568	95323053	12	19520										
SELL	6402	genome.wustl.edu	37	chr1	169677748	169677748	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acccacgtccatattcctccTatcttccggattcctatcca	3	17	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:169677748T>G	ENST00000236147.4	-	3	481	c.321A>C	c.(319-321)atA>atC	p.I107I	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	94	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.I94I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATATTCCTCCTATCTTCCGGA	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											82	77	79					1																	169677748		1936	4141	6077	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.321A>C	1.37:g.169677748T>G			B2R6Q8|P15023|Q9UJ43	Silent	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.I107	ENST00000236147.4	37	c.321	CCDS53427.1	1																																																																																			SELL	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin		0.453	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	T	NM_000655		169677748	-1	no_errors	ENST00000236147	ensembl	human	known	70_37	silent	SNP	0.000	G	G	169677748	T	G	169677748	2	3	126	1	0	0	0	0	0	0	0	1	14046	1512	53	5		5	SELL	1	169677748	Silent	SNP	T	TCGA-FU-A23K-01A-11D-A16O-08	15750180	169677748	79572873	13	19521										
CRB1	23418	genome.wustl.edu	37	chr1	197326066	197326066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctcagagaaacaatatggacGcatcactggactgccttctt	8	11	3	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:197326066G>A	ENST00000367400.3	+	5	1229	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	CRB1_ENST00000535699.1_Missense_Mutation_p.R296H|CRB1_ENST00000543483.1_Missense_Mutation_p.R64H|CRB1_ENST00000367399.2_Missense_Mutation_p.R253H|CRB1_ENST00000538660.1_Missense_Mutation_p.R365H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	365	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R365H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAATATGGACGCATCACTGGA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											200	166	178					1																	197326066		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1094G>A	1.37:g.197326066G>A	ENSP00000356370:p.Arg365His		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R365H	ENST00000367400.3	37	c.1094	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305761	0.01353	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483	D;D;D;D;D	0.87650	-1.94;-2.1;-1.79;-2.28;-2.21	5.19	-6.1	0.02138	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.73799	0.3633	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B;B	0.19817	0.001;0.001;0.003;0.006;0.039	B;B;B;B;B	0.14578	0.004;0.004;0.002;0.01;0.011	T	0.57751	-0.7757	9	0.34782	T	0.22	.	8.5268	0.33309	0.6114:0.0:0.2805:0.1081	.	365;296;253;365;390	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	H	296;365;365;253;64	ENSP00000438786:R296H;ENSP00000438091:R365H;ENSP00000356370:R365H;ENSP00000356369:R253H;ENSP00000439579:R64H	ENSP00000356369:R253H	R	+	2	0	CRB1	195592689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.310000	0.02725	-0.834000	0.04239	-1.475000	0.01000	CGC	CRB1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	G	NM_201253		197326066	1	no_errors	ENST00000367400	ensembl	human	known	70_37	missense	SNP	0.000	A	A	197326066	G	A	197326066	3	1	126	1	0	0	0	0	1	0	0	0	3853	1087	38	2	1112	2	CRB1	1	197326066	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	27648318	197326066	51924555	14	19522										
AVPR1B	553	genome.wustl.edu	37	chr1	206230995	206230995	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggcagcctctcgagccgccaCaccacgctgctgacccgctc	10	20	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:206230995C>G	ENST00000367126.4	+	2	1593	c.1128C>G	c.(1126-1128)caC>caG	p.H376Q		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	376					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.H376Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGAGCCGCCACACCACGCTGC	0.706																																																	1	Substitution - Missense(1)	cervix(1)											15	18	17					1																	206230995		2201	4293	6494	SO:0001583	missense	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.1128C>G	1.37:g.206230995C>G	ENSP00000356094:p.His376Gln		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.H376Q	ENST00000367126.4	37	c.1128	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	7.500	0.652517	0.14580	.	.	ENSG00000198049	ENST00000367126	T	0.62498	0.02	5.69	2.75	0.32379	.	2.833740	0.00789	N	0.001323	T	0.45657	0.1353	N	0.22421	0.69	0.23304	N	0.99794	B	0.25521	0.128	B	0.16722	0.016	T	0.28713	-1.0035	10	0.24483	T	0.36	-8.4513	2.2896	0.04135	0.1236:0.4746:0.2217:0.18	.	376	P47901	V1BR_HUMAN	Q	376	ENSP00000356094:H376Q	ENSP00000356094:H376Q	H	+	3	2	AVPR1B	204397618	0.008000	0.16893	0.981000	0.43875	0.618000	0.37518	-0.330000	0.07925	0.772000	0.33382	-0.244000	0.11960	CAC	AVPR1B	-	prints_Vprs_rcpt_V1B		0.706	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	C	NM_000707		206230995	1	no_errors	ENST00000367126	ensembl	human	known	70_37	missense	SNP	0.750	G	G	206230995	C	G	206230995	3	3	126	1	0	0	0	0	1	0	0	0	1233	477	17	4	1134	4	AVPR1B	1	206230995	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	8904929	206230995	43019626	15	19523										
IARS2	55699	genome.wustl.edu	37	chr1	220269459	220269459	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aaaacagaaatgtggattttCagaactttattcatggcaaa	7	5	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:220269459C>A	ENST00000302637.5	+	2	385	c.281C>A	c.(280-282)tCa>tAa	p.S94*	IARS2_ENST00000366922.1_Nonsense_Mutation_p.S22*	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	94					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S94*(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTGGATTTTCAGAACTTTAT	0.333																																																	1	Substitution - Nonsense(1)	cervix(1)											52	52	52					1																	220269459		2203	4300	6503	SO:0001587	stop_gained	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.281C>A	1.37:g.220269459C>A	ENSP00000303279:p.Ser94*		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.S94*	ENST00000302637.5	37	c.281	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.335718	0.98221	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	.	.	.	5.09	3.21	0.36854	.	0.528567	0.20944	N	0.082880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-6.3548	9.1455	0.36930	0.0:0.7061:0.0:0.2939	.	.	.	.	X	22;94	.	ENSP00000303279:S94X	S	+	2	0	IARS2	218336082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	0.656000	0.30886	0.557000	0.71058	TCA	IARS2	-	tigrfam_Ile-tRNA-ligase		0.333	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220269459	1	no_errors	ENST00000302637	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	220269459	C	A	220269459	4	1	126	1	0	0	0	0	0	1	0	0	7494	838	29	3	287	3	IARS2	1	220269459	Nonsense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	14038464	220269459	28981162	16	19524			1	90		2	2	13	C		4.729072e-05
IARS2	55699	genome.wustl.edu	37	chr1	220269471	220269471	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tggattttcagaactttattCatggcaaagagaaagaaaag	9	4	2	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:220269471C>T	ENST00000302637.5	+	2	397	c.293C>T	c.(292-294)tCa>tTa	p.S98L	IARS2_ENST00000366922.1_Missense_Mutation_p.S26L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	98					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S98L(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAACTTTATTCATGGCAAAGA	0.323																																																	1	Substitution - Missense(1)	cervix(1)											63	62	63					1																	220269471		2203	4299	6502	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.293C>T	1.37:g.220269471C>T	ENSP00000303279:p.Ser98Leu		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.S98L	ENST00000302637.5	37	c.293	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103851	0.76983	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.44083	0.93;0.93	5.09	5.09	0.68999	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.427595	0.26065	N	0.026559	T	0.54447	0.1859	M	0.62723	1.935	0.46437	D	0.99904	D	0.53462	0.96	P	0.52343	0.696	T	0.51957	-0.8639	10	0.35671	T	0.21	-20.1222	18.8283	0.92127	0.0:1.0:0.0:0.0	.	98	Q9NSE4	SYIM_HUMAN	L	26;98	ENSP00000355889:S26L;ENSP00000303279:S98L	ENSP00000303279:S98L	S	+	2	0	IARS2	218336094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.385000	0.59613	2.522000	0.85027	0.557000	0.71058	TCA	IARS2	-	tigrfam_Ile-tRNA-ligase		0.323	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220269471	1	no_errors	ENST00000302637	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220269471	C	T	220269471	3	4	126	1	0	0	0	0	1	0	0	0	7494	838	29	1	299	1	IARS2	1	220269471	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	12	220269471	28981150	17	19525			1	90		2	2	13	C		4.729072e-05
LYST	1130	genome.wustl.edu	37	chr1	235969198	235969198	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctcgggagcggcttcagtagCtgaaacttcttccacattta	9	11	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:235969198C>G	ENST00000389794.3	-	6	3412	c.3238G>C	c.(3238-3240)Gct>Cct	p.A1080P	LYST_ENST00000389793.2_Missense_Mutation_p.A1080P|LYST_ENST00000536965.1_Missense_Mutation_p.A1080P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1080					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.A1080P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTTCAGTAGCTGAAACTTCT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											68	69	69					1																	235969198		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3238G>C	1.37:g.235969198C>G	ENSP00000374444:p.Ala1080Pro		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1080P	ENST00000389794.3	37	c.3238	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791907	0.16258	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.12	5.12	1.09	0.20402	.	0.692091	0.15186	N	0.275854	T	0.51381	0.1671	L	0.44542	1.39	0.09310	N	1	P;B	0.52061	0.95;0.001	P;B	0.46885	0.53;0.004	T	0.37842	-0.9688	10	0.29301	T	0.29	.	4.253	0.10703	0.2441:0.4203:0.0:0.3356	.	1080;1080	Q99698-3;Q99698	.;LYST_HUMAN	P	1080	ENSP00000374444:A1080P;ENSP00000374443:A1080P;ENSP00000438315:A1080P	ENSP00000374443:A1080P	A	-	1	0	LYST	234035821	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-0.278000	0.08490	0.325000	0.23359	0.563000	0.77884	GCT	LYST	-	superfamily_ARM-type_fold		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	C			235969198	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.000	G	G	235969198	C	G	235969198	3	3	126	1	0	0	0	0	1	0	0	0	9151	797	28	4	8359	4	LYST	1	235969198	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	15699727	235969198	13281423	18	19526										
LYST	1130	genome.wustl.edu	37	chr1	235969573	235969573	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgctgcttggtgcatatgttCaggagaaggcaagacaaggc	14	7	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:235969573C>G	ENST00000389794.3	-	6	3037	c.2863G>C	c.(2863-2865)Gaa>Caa	p.E955Q	LYST_ENST00000389793.2_Missense_Mutation_p.E955Q|LYST_ENST00000536965.1_Missense_Mutation_p.E955Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	955					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E955Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCATATGTTCAGGAGAAGGC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											105	100	102					1																	235969573		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2863G>C	1.37:g.235969573C>G	ENSP00000374444:p.Glu955Gln		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E955Q	ENST00000389794.3	37	c.2863	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688655	0.68271	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.75938	-0.98;-0.98;0.16	5.6	2.5	0.30297	.	0.203360	0.50627	D	0.000114	T	0.72526	0.3471	M	0.64997	1.995	0.45025	D	0.998044	P;P	0.40083	0.702;0.698	B;B	0.43575	0.398;0.424	T	0.69837	-0.5037	10	0.56958	D	0.05	.	10.0278	0.42081	0.0:0.7675:0.0:0.2325	.	955;955	Q99698-3;Q99698	.;LYST_HUMAN	Q	955	ENSP00000374444:E955Q;ENSP00000374443:E955Q;ENSP00000438315:E955Q	ENSP00000374443:E955Q	E	-	1	0	LYST	234036196	0.994000	0.37717	0.004000	0.12327	0.783000	0.44284	3.190000	0.50973	0.223000	0.20920	0.655000	0.94253	GAA	LYST	-	superfamily_ARM-type_fold		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	C			235969573	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.986	G	G	235969573	C	G	235969573	3	3	126	1	0	0	0	0	1	0	0	0	9151	835	29	1	8734	1	LYST	1	235969573	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	375	235969573	13281048	19	19527										
ATP6V1E2	90423	genome.wustl.edu	37	chr2	46739842	46739842	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tttttcacatcgacatcactCagggccatggctgctctcag	8	13	4	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:46739842C>G	ENST00000306448.4	-	2	1122	c.9G>C	c.(7-9)ctG>ctC	p.L3L	ATP6V1E2_ENST00000522587.1_Silent_p.L3L	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	3					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L3L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGACATCACTCAGGGCCATGG	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											53	48	49					2																	46739842		2203	4300	6503	SO:0001819	synonymous_variant	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.9G>C	2.37:g.46739842C>G				Silent	SNP	pfam_ATPase_V1/A1-cplx_esu	p.L3	ENST00000306448.4	37	c.9	CCDS1826.1	2																																																																																			ATP6V1E2	-	NULL		0.507	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E2	HGNC	protein_coding	OTTHUMT00000250753.1	C	NM_080653		46739842	-1	no_errors	ENST00000306448	ensembl	human	known	70_37	silent	SNP	0.998	G	G	46739842	C	G	46739842	2	3	126	1	0	0	0	0	0	0	0	1	1185	813	29	1		1	ATP6V1E2	2	46739842	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		46739842	196459531	20	19528										
CCDC88A	55704	genome.wustl.edu	37	chr2	55544890	55544890	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tttgattacagattcattttCattttctaaggaagactgct	6	6	3	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:55544890C>T	ENST00000436346.1	-	20	4253	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1137K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1138K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1137K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1138					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E1137K(1)|p.E1138K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GATTCATTTTCATTTTCTAAG	0.378																																																	2	Substitution - Missense(2)	cervix(2)											128	129	129					2																	55544890		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3412G>A	2.37:g.55544890C>T	ENSP00000410608:p.Glu1138Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E1138K	ENST00000436346.1	37	c.3412		2	.	.	.	.	.	.	.	.	.	.	C	34	5.333754	0.95758	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;D;T;T	0.82711	1.63;1.87;1.88;-1.64;1.65;0.75	6.02	6.02	0.97574	.	0.000000	0.49305	U	0.000160	D	0.92107	0.7498	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.991;0.994;0.993;0.99;0.999;0.995	D	0.91889	0.5522	10	0.72032	D	0.01	-22.1434	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1137;1138;1083;1138;1137;1137	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;GRDN_HUMAN;.;.	K	1137;1138;1138;183;1137;313	ENSP00000338728:E1137K;ENSP00000263630:E1138K;ENSP00000410608:E1138K;ENSP00000390012:E183K;ENSP00000404431:E1137K;ENSP00000405080:E313K	ENSP00000263630:E1138K	E	-	1	0	CCDC88A	55398394	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.362000	0.79507	2.857000	0.98124	0.650000	0.86243	GAA	CCDC88A	-	NULL		0.378	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55544890	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55544890	C	T	55544890	3	4	126	1	0	0	0	0	1	0	0	0	2868	835	29	1	2255	1	CCDC88A	2	55544890	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	8805048	55544890	187654483	21	19529										
AAK1	22848	genome.wustl.edu	37	chr2	69741754	69741756	+	In_Frame_Del	DEL	TGT	TGT	-													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tggccagctgttgctgttgcTgttgttgttgctgctgctgc					rs66931661|rs3832159|rs55712143	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:69741754_69741756delTGT	ENST00000409085.4	-	13	1999_2001	c.1623_1625delACA	c.(1621-1626)caacag>cag	p.541_542QQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.541_542QQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.541_542QQ>Q|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	541	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgctgttgttgttgct	0.547														1782	0.355831	0.1755	0.4755	5008	,	,		19080	0.5129		0.3897	False		,,,				2504	0.318																0										952,3280		126,700,1290						3.2	1		dbSNP_107	34	3317,4915		696,1925,1495	no	coding	AAK1	NM_014911.3		822,2625,2785	A1A1,A1R,RR		40.294,22.4953,34.2506				4269,8195				SO:0001651	inframe_deletion	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1623_1625delACA	2.37:g.69741760_69741762delTGT	ENSP00000386456:p.Gln546del		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	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.Q545in_frame_del	ENST00000409085.4	37	c.1625_1623	CCDS1893.2	2																																																																																			AAK1	-	NULL		0.547	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	TGT	NM_014911		69741756	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	in_frame_del	DEL	0.998:0.997:0.988	-	-	69741756	TGT	-	69741754	7	5	126	1	0	1	0	1	0	0	0	0	16	1580	55	0	1300	0	AAK1	2	69741754	In_Frame_Del	DEL	TGT	TCGA-FU-A23K-01A-11D-A16O-08	14196864	69741754	173457619	22	19530										
LCT	3938	genome.wustl.edu	37	chr2	136566629	136566629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctggcatgggctttgatgacGgcgtgggctatcctatatgg	15	8	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:136566629G>A	ENST00000264162.2	-	8	3298	c.3288C>T	c.(3286-3288)gcC>gcT	p.A1096A	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A1096A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTTTGATGACGGCGTGGGCTA	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											53	56	55					2																	136566629		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3288C>T	2.37:g.136566629G>A			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A1096	ENST00000264162.2	37	c.3288	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	G	NM_002299		136566629	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	silent	SNP	0.015	A	A	136566629	G	A	136566629	2	1	126	1	0	0	0	0	0	0	0	1	8713	1103	39	2		2	LCT	2	136566629	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	66824875	136566629	106632744	23	19531										
TTN	7273	genome.wustl.edu	37	chr2	179613392	179613392	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gtgttttatttgagtgtgaaActgctttaagtcaaatgtaa	9	3	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:179613392A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.F4579L|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGTGAAACTGCTTTAAG	0.333																																																	0													119	126	124					2																	179613392		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4458T>C	2.37:g.179613392A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F4579L	ENST00000591111.1	37	c.13735		2	.	.	.	.	.	.	.	.	.	.	A	7.165	0.586577	0.13749	.	.	ENSG00000155657	ENST00000360870	T	0.57107	0.42	5.27	2.78	0.32641	.	.	.	.	.	T	0.26882	0.0658	.	.	.	0.09310	N	1	B	0.33171	0.4	B	0.26969	0.075	T	0.09487	-1.0672	8	0.16896	T	0.51	.	3.0114	0.06045	0.6219:0.1209:0.0758:0.1814	.	4579	Q8WZ42-6	.	L	4579	ENSP00000354117:F4579L	ENSP00000354117:F4579L	F	-	1	0	TTN	179321637	0.000000	0.05858	0.725000	0.30721	0.789000	0.44602	0.290000	0.18975	1.033000	0.39918	0.533000	0.62120	TTT	TTN	-	NULL		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179613392	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.001	G	G	179613392	A	G	179613392	1	3	126	0	1	0	0	0	0	0	0	0	16766	43	2	5		5	TTN	2	179613392	Intron	SNP	A	TCGA-FU-A23K-01A-11D-A16O-08	43046763	179613392	63585981	24	19532										
TTN	7273	genome.wustl.edu	37	chr2	179641169	179641169	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctgtaagcctttcctcccctCaggcaattgggattcttcca	7	14	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:179641169C>T	ENST00000591111.1	-	28	5646	c.5422G>A	c.(5422-5424)Gag>Aag	p.E1808K	TTN_ENST00000342175.6_Missense_Mutation_p.E1762K|TTN_ENST00000359218.5_Missense_Mutation_p.E1762K|TTN_ENST00000360870.5_Missense_Mutation_p.E1808K|TTN_ENST00000589042.1_Missense_Mutation_p.E1808K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E1762K|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1808K|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12636					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E1762K(3)|p.E1808K(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTCCCCTCAGGCAATTGG	0.408																																																	6	Substitution - Missense(6)	cervix(6)											116	119	118					2																	179641169		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5422G>A	2.37:g.179641169C>T	ENSP00000465570:p.Glu1808Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E1808K	ENST00000591111.1	37	c.5422		2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404946	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;0.14;0.11;0.1;0.31	5.08	5.08	0.68730	Ribonuclease H-like (1);	.	.	.	.	T	0.67401	0.2889	L	0.34521	1.04	0.42132	D	0.99147	B;B;P;B;D	0.59357	0.189;0.189;0.457;0.189;0.985	B;B;B;B;P	0.56612	0.081;0.081;0.081;0.081;0.802	T	0.72253	-0.4347	9	0.87932	D	0	.	18.4712	0.90776	0.0:1.0:0.0:0.0	.	1762;1762;1762;1808;1808	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1808;1762;1762;1762;1762;1808	ENSP00000343764:E1808K;ENSP00000434586:E1762K;ENSP00000340554:E1762K;ENSP00000352154:E1762K;ENSP00000354117:E1808K	ENSP00000340554:E1762K	E	-	1	0	TTN	179349414	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.757000	0.85209	2.376000	0.81061	0.655000	0.94253	GAG	TTN	-	superfamily_RNaseH-like_dom		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641169	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179641169	C	T	179641169	3	4	126	1	0	0	0	0	1	0	0	0	16766	835	29	1	105906	1	TTN	2	179641169	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	27777	179641169	63558204	25	19533										
NCKAP1	10787	genome.wustl.edu	37	chr2	183826937	183826937	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aatatcagtgatgagatttcGagcttgtttggccatttcat	9	6	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:183826937G>A	ENST00000361354.4	-	18	2203	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	NCKAP1_ENST00000360982.2_Nonsense_Mutation_p.R617*	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	611					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R617*(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGAGATTTCGAGCTTGTTTG	0.368																																																	1	Substitution - Nonsense(1)	cervix(1)											160	148	152					2																	183826937		2203	4300	6503	SO:0001587	stop_gained	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1831C>T	2.37:g.183826937G>A	ENSP00000355348:p.Arg611*		O60329|Q53QN5|Q53S94|Q53Y35	Nonsense_Mutation	SNP	pfam_Nck-associated_protein-1	p.R617*	ENST00000361354.4	37	c.1849	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	G	46	12.167198	0.99642	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	5.05	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.5262	14.522	0.67856	0.0:0.0:0.7359:0.2641	.	.	.	.	X	611;617	.	ENSP00000354251:R617X	R	-	1	2	NCKAP1	183535182	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.455000	0.60075	1.261000	0.44149	0.655000	0.94253	CGA	NCKAP1	-	pfam_Nck-associated_protein-1		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	G	NM_205842		183826937	-1	no_errors	ENST00000360982	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	183826937	G	A	183826937	4	1	126	1	0	0	0	0	0	1	0	0	10245	1066	37	1	1611	1	NCKAP1	2	183826937	Nonsense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	4185768	183826937	59372436	26	19534										
INO80D	54891	genome.wustl.edu	37	chr2	206911292	206911292	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctggtagggcgaggcctgctCtgagtcctctggttcctctc	13	13	3	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:206911292C>G	ENST00000403263.1	-	5	1413	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	337					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E337Q(1)|p.E232Q(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAGGCCTGCTCTGAGTCCTCT	0.418																																																	2	Substitution - Missense(2)	cervix(2)											78	79	79					2																	206911292		1900	4115	6015	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1009G>C	2.37:g.206911292C>G	ENSP00000384198:p.Glu337Gln		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.E337Q	ENST00000403263.1	37	c.1009	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140573	0.56936	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.55930	0.49;0.49	5.54	5.54	0.83059	.	0.219645	0.47852	D	0.000217	T	0.42921	0.1224	N	0.24115	0.695	0.37004	D	0.8954	B	0.20671	0.047	B	0.21151	0.033	T	0.42849	-0.9427	10	0.49607	T	0.09	.	17.6519	0.88167	0.0:1.0:0.0:0.0	.	337	Q53TQ3-2	.	Q	337;337;232	ENSP00000384198:E337Q;ENSP00000402369:E232Q	ENSP00000233270:E337Q	E	-	1	0	INO80D	206619537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.631000	0.61304	2.619000	0.88677	0.655000	0.94253	GAG	INO80D	-	NULL		0.418	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	C	NM_017759		206911292	-1	no_errors	ENST00000403263	ensembl	human	known	70_37	missense	SNP	1.000	G	G	206911292	C	G	206911292	3	3	126	1	0	0	0	0	1	0	0	0	7769	922	32	1	2102	1	INO80D	2	206911292	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	23084355	206911292	36288081	27	19535										
ABCA12	26154	genome.wustl.edu	37	chr2	215823081	215823081	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	caactgtttggctttggtttGatgttcccttacaacatagg	9	8	0	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:215823081G>A	ENST00000272895.7	-	41	6256	c.6037C>T	c.(6037-6039)Caa>Taa	p.Q2013*	AC072062.1_ENST00000420134.1_RNA|AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Q1695*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2013					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.Q2013*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTTTGGTTTGATGTTCCCTT	0.428																																					Ovarian(66;664 1488 5121 34295)												1	Substitution - Nonsense(1)	cervix(1)											229	191	204					2																	215823081		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6037C>T	2.37:g.215823081G>A	ENSP00000272895:p.Gln2013*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q2013*	ENST00000272895.7	37	c.6037	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.937369	0.99619	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	.	.	.	X	2013;1695	.	ENSP00000272895:Q2013X	Q	-	1	0	ABCA12	215531326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.474000	0.73578	2.765000	0.95021	0.650000	0.86243	CAA	ABCA12	-	NULL		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215823081	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	215823081	G	A	215823081	4	1	126	1	0	0	0	0	0	1	0	0	30	1299	45	1	1802	1	ABCA12	2	215823081	Nonsense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	8911789	215823081	27376292	28	19536										
SERPINE2	5270	genome.wustl.edu	37	chr2	224866375	224866375	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gcaccatttacgccgtatctCatcaccatggcgagctgctt	8	14	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:224866375C>T	ENST00000258405.4	-	2	485	c.243G>A	c.(241-243)atG>atA	p.M81I	SERPINE2_ENST00000409840.3_Missense_Mutation_p.M81I|SERPINE2_ENST00000409304.1_Missense_Mutation_p.M81I|SERPINE2_ENST00000447280.2_Missense_Mutation_p.M93I	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	81					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.M93I(1)|p.M81I(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CGCCGTATCTCATCACCATGG	0.557																																																	2	Substitution - Missense(2)	cervix(2)											73	64	67					2																	224866375		2203	4300	6503	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.243G>A	2.37:g.224866375C>T	ENSP00000258405:p.Met81Ile		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M81I	ENST00000258405.4	37	c.243	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593826	0.66219	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956	T;T;T;T;T;D	0.82167	2.03;-0.79;2.03;2.03;2.03;-1.58	5.67	5.67	0.87782	Serpin domain (3);	0.091054	0.85682	D	0.000000	D	0.86932	0.6052	L	0.50847	1.595	0.58432	D	0.999995	P;P	0.46706	0.883;0.883	P;P	0.53102	0.718;0.718	D	0.87157	0.2212	10	0.62326	D	0.03	.	19.7698	0.96359	0.0:1.0:0.0:0.0	.	93;81	B4DIF2;P07093	.;GDN_HUMAN	I	81;81;81;93;81;81	ENSP00000386412:M81I;ENSP00000258405:M81I;ENSP00000386969:M81I;ENSP00000415786:M93I;ENSP00000408452:M81I;ENSP00000399655:M81I	ENSP00000258405:M81I	M	-	3	0	SERPINE2	224574619	1.000000	0.71417	0.991000	0.47740	0.262000	0.26303	3.542000	0.53625	2.659000	0.90383	0.655000	0.94253	ATG	SERPINE2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.557	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	C	NM_006216		224866375	-1	no_errors	ENST00000258405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	224866375	C	T	224866375	3	4	126	1	0	0	0	0	1	0	0	0	14142	826	29	1	985	1	SERPINE2	2	224866375	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	9043294	224866375	18332998	29	19537										
AQP12B	653437	genome.wustl.edu	37	chr2	241622114	241622114	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	atctccaggaagcaggccccGagctgcaccgcgcccaccgc	11	19	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:241622114G>A	ENST00000407834.3	-	1	203	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	41						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L47L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AGCAGGCCCCGAGCTGCACCG	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											46	50	49					2																	241622114		2203	4299	6502	SO:0001819	synonymous_variant	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.141C>T	2.37:g.241622114G>A			A4QPB9	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.L47	ENST00000407834.3	37	c.141	CCDS46560.1	2																																																																																			AQP12B	-	superfamily_Aquaporin-like,pirsf_Aquaporin_11/12		0.692	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	HGNC	protein_coding	OTTHUMT00000325625.1	G			241622114	-1	no_errors	ENST00000407834	ensembl	human	known	70_37	silent	SNP	0.903	A	A	241622114	G	A	241622114	2	1	126	1	0	0	0	0	0	0	0	1	825	1045	37	1		1	AQP12B	2	241622114	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	16755739	241622114	1577259	30	19538										
ALS2CL	259173	genome.wustl.edu	37	chr3	46717778	46717778	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggcatgctgcttcacctcctCctgggccagctcctgcaggt	11	16	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:46717778C>G	ENST00000318962.4	-	19	2226	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E62Q|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E715Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	715					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E715Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTCACCTCCTCCTGGGCCAGC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											72	65	67					3																	46717778		2203	4300	6503	SO:0001583	missense	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2143G>C	3.37:g.46717778C>G	ENSP00000313670:p.Glu715Gln		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.E715Q	ENST00000318962.4	37	c.2143	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490883	0.44249	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.34859	1.34;1.34;1.34	4.85	3.97	0.46021	.	0.089177	0.46758	D	0.000279	T	0.38214	0.1032	M	0.64997	1.995	0.35361	D	0.788216	D	0.54047	0.964	P	0.46629	0.522	T	0.50180	-0.8858	10	0.22109	T	0.4	.	11.2636	0.49097	0.0:0.9103:0.0:0.0897	.	715	Q60I27	AL2CL_HUMAN	Q	715;715;62	ENSP00000313670:E715Q;ENSP00000413223:E715Q;ENSP00000373248:E62Q	ENSP00000313670:E715Q	E	-	1	0	ALS2CL	46692782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.439000	0.52878	1.272000	0.44329	0.561000	0.74099	GAG	ALS2CL	-	NULL		0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	C	NM_147129		46717778	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46717778	C	G	46717778	3	3	126	1	0	0	0	0	1	0	0	0	551	864	30	1	750	1	ALS2CL	3	46717778	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		46717778	151304652	31	19539										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119134599	119134599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gagccattaagtcctcaccaGtggatgccactgcaccctgc	9	15	1	0	rs372342110		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:119134599G>T	ENST00000264245.4	+	12	4355	c.3823G>T	c.(3823-3825)Gtg>Ttg	p.V1275L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1275					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.V1275L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTCCTCACCAGTGGATGCCAC	0.537																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	cervix(1)											47	51	50					3																	119134599		2000	4174	6174	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3823G>T	3.37:g.119134599G>T	ENSP00000264245:p.Val1275Leu		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V1275L	ENST00000264245.4	37	c.3823	CCDS43135.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.171|0.171	-1.071915|-1.071915	0.01918|0.01918	.|.	.|.	ENSG00000031081|ENSG00000031081	ENST00000543280|ENST00000264245	.|T	.|0.05649	.|3.41	5.87|5.87	-11.7|-11.7	0.00046|0.00046	.|.	.|1.999180	.|0.02096	.|N	.|0.053536	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.30268|0.30268	-0.9984|-0.9984	6|10	0.87932|0.24483	D|T	0|0.36	.|.	8.1907|8.1907	0.31366|0.31366	0.6216:0.2219:0.0824:0.074|0.6216:0.2219:0.0824:0.074	.|.	.|1275	.|Q2M1Z3	.|RHG31_HUMAN	H|L	1070|1275	.|ENSP00000264245:V1275L	ENSP00000442361:Q1070H|ENSP00000264245:V1275L	Q|V	+|+	3|1	2|0	ARHGAP31|ARHGAP31	120617289|120617289	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-1.200000|-1.200000	0.03029|0.03029	-3.368000|-3.368000	0.00177|0.00177	-0.793000|-0.793000	0.03317|0.03317	CAG|GTG	ARHGAP31	-	NULL		0.537	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119134599	1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.000	T	T	119134599	G	T	119134599	3	4	126	1	0	0	0	0	1	0	0	0	880	1029	36	4	3869	4	ARHGAP31	3	119134599	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	72416821	119134599	78887831	32	19540										
HEG1	57493	genome.wustl.edu	37	chr3	124732410	124732410	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	agaggcaaaggaggccctgaAgaagaagaagaggaggagga	18	4	0	6			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:124732410A>G	ENST00000311127.4	-	6	2080	c.2013T>C	c.(2011-2013)tcT>tcC	p.S671S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	671	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGGCCCTgaagaagaagaag	0.473																																																	0													46	52	50					3																	124732410		2119	4239	6358	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2013T>C	3.37:g.124732410A>G			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.S671	ENST00000311127.4	37	c.2013	CCDS46898.1	3																																																																																			HEG1	-	NULL		0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	A	XM_087386		124732410	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	silent	SNP	0.018	G	G	124732410	A	G	124732410	2	3	126	1	0	0	0	0	0	0	0	1	7064	59	3	5		5	HEG1	3	124732410	Silent	SNP	A	TCGA-FU-A23K-01A-11D-A16O-08	5597811	124732410	73290020	33	19541										
PIK3CA	5290	genome.wustl.edu	37	chr3	178921549	178921549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aattctttgtgcaacctacgTgaatgtaaatattcgagaca	7	7	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:178921549T>G	ENST00000263967.3	+	5	1188	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V344G(8)|p.V344A(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GCAACCTACGTGAATGTAAAT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	13	Substitution - Missense(13)	endometrium(6)|large_intestine(4)|cervix(2)|central_nervous_system(1)											68	67	67					3																	178921549		1808	4073	5881	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1031T>G	3.37:g.178921549T>G	ENSP00000263967:p.Val344Gly		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.V344G	ENST00000263967.3	37	c.1031	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391827	0.83011	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.84581	0.0661	10	0.49607	T	0.09	-22.945	15.721	0.77710	0.0:0.0:0.0:1.0	.	344	P42336	PK3CA_HUMAN	G	344	ENSP00000263967:V344G	ENSP00000263967:V344G	V	+	2	0	PIK3CA	180404243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.606000	0.82863	2.166000	0.68216	0.402000	0.26972	GTG	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	T			178921549	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178921549	T	G	178921549	3	3	126	1	0	0	0	0	1	0	0	0	11937	1696	59	5	1045	5	PIK3CA	3	178921549	Missense_Mutation	SNP	T	TCGA-FU-A23K-01A-11D-A16O-08	54189139	178921549	19100881	34	19542										
HGFAC	3083	genome.wustl.edu	37	chr4	3444814	3444814	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aggccctgcaggttccccttCcgctacgggggccgcatgct	13	16	0	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:3444814C>G	ENST00000382774.3	+	3	451	c.336C>G	c.(334-336)ttC>ttG	p.F112L	HGFAC_ENST00000511533.1_Missense_Mutation_p.F112L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	112	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F112L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGTTCCCCTTCCGCTACGGGG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											17	22	20					4																	3444814		2195	4289	6484	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.336C>G	4.37:g.3444814C>G	ENSP00000372224:p.Phe112Leu		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F112L	ENST00000382774.3	37	c.336	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123157	0.56613	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.76968	-1.06;-1.06	3.16	2.17	0.27698	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.325292	0.27802	U	0.017788	D	0.87787	0.6265	M	0.93507	3.425	0.27386	N	0.955284	P;D	0.56035	0.865;0.974	P;D	0.65573	0.565;0.936	T	0.77838	-0.2439	10	0.46703	T	0.11	.	7.3589	0.26735	0.0:0.7255:0.2745:0.0	.	112;112	D6RAR4;Q04756	.;HGFA_HUMAN	L	112	ENSP00000372224:F112L;ENSP00000421801:F112L	ENSP00000372224:F112L	F	+	3	2	HGFAC	3414612	0.022000	0.18835	1.000000	0.80357	0.334000	0.28698	1.598000	0.36740	1.709000	0.51313	0.306000	0.20318	TTC	HGFAC	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_FN_type2_col-bd		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	C			3444814	1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	0.990	G	G	3444814	C	G	3444814	3	3	126	1	0	0	0	0	1	0	0	0	7106	854	30	1	346	1	HGFAC	4	3444814	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		3444814	187709462	35	19543										
RNF150	57484	genome.wustl.edu	37	chr4	142053952	142053952	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgcagcacgcttggatgagaGacattgccatctttatccgc	10	11	1	2	rs368156046		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:142053952G>A	ENST00000515673.2	-	1	44	c.11C>T	c.(10-12)tCt>tTt	p.S4F	RNF150_ENST00000420921.2_Intron|RNF150_ENST00000306799.3_Missense_Mutation_p.S4F|RNF150_ENST00000507500.1_Missense_Mutation_p.S4F			Q9ULK6	RN150_HUMAN	ring finger protein 150	4						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S4F(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTGGATGAGAGACATTGCCAT	0.657																																																	1	Substitution - Missense(1)	cervix(1)						G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	66	54	58		11	3.5	1	4		58	0,8600		0,0,4300	no	missense	RNF150	NM_020724.1	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4/439	142053952	1,13005	2203	4300	6503	SO:0001583	missense	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.11C>T	4.37:g.142053952G>A	ENSP00000425840:p.Ser4Phe		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S4F	ENST00000515673.2	37	c.11	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248031	0.80024	2.27E-4	0.0	ENSG00000170153	ENST00000306799;ENST00000515673;ENST00000507500	T;T;T	0.18960	2.18;3.09;3.16	3.53	3.53	0.40419	.	0.535928	0.17437	N	0.174248	T	0.35098	0.0920	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.99	T	0.28870	-1.0030	10	0.62326	D	0.03	.	15.9734	0.80040	0.0:0.0:1.0:0.0	.	4;4;4	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	F	4	ENSP00000304321:S4F;ENSP00000425840:S4F;ENSP00000425568:S4F	ENSP00000304321:S4F	S	-	2	0	RNF150	142273402	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.382000	0.66213	1.926000	0.55796	0.305000	0.20034	TCT	RNF150	-	NULL		0.657	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	HGNC	protein_coding	OTTHUMT00000364739.2	G	XM_291090		142053952	-1	no_errors	ENST00000515673	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142053952	G	A	142053952	3	1	126	1	0	0	0	0	1	0	0	0	13481	942	33	1	1333	1	RNF150	4	142053952	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	138609138	142053952	49100324	36	19544										
ZNF827	152485	genome.wustl.edu	37	chr4	146791581	146791581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	agggactccccttccttaggCtcctctttcactttaaaatt	5	13	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:146791581C>T	ENST00000508784.1	-	5	2024	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E	ZNF827_ENST00000379448.4_Silent_p.E599E|ZNF827_ENST00000513320.1_Silent_p.E249E|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	599					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.E599E(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTCCTTAGGCTCCTCTTTCA	0.483																																																	2	Substitution - coding silent(2)	cervix(2)											70	78	75					4																	146791581		2203	4300	6503	SO:0001819	synonymous_variant	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1797G>A	4.37:g.146791581C>T			B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E599	ENST00000508784.1	37	c.1797		4																																																																																			ZNF827	-	NULL		0.483	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	C	NM_178835		146791581	-1	no_errors	ENST00000508784	ensembl	human	known	70_37	silent	SNP	1.000	T	T	146791581	C	T	146791581	2	4	126	1	0	0	0	0	0	0	0	1	18210	796	28	4		4	ZNF827	4	146791581	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	4737629	146791581	44362695	37	19545										
MFAP3L	9848	genome.wustl.edu	37	chr4	170926743	170926743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aagcctacctcctcctctctCcttctcatcctcttcttctt	1	19	5	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:170926743C>T	ENST00000361618.3	-	2	593	c.286G>A	c.(286-288)Gag>Aag	p.E96K	MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.E96K|MFAP3L_ENST00000393702.3_Missense_Mutation_p.E96K	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	96	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E96K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CCTCCTCTCTCCTTCTCATCC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											159	151	153					4																	170926743		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.286G>A	4.37:g.170926743C>T	ENSP00000354583:p.Glu96Lys		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E96K	ENST00000361618.3	37	c.286	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	C	7.841	0.721916	0.15372	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999	D;D;D;D	0.86497	-1.71;-1.9;-1.9;-2.13	4.41	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.583640	0.03409	N	0.204482	T	0.78407	0.4278	N	0.19112	0.55	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.62562	-0.6828	10	0.16420	T	0.52	-31.8718	6.58	0.22588	0.0:0.7151:0.1849:0.1001	.	96	O75121	MFA3L_HUMAN	K	96	ENSP00000354583:E96K;ENSP00000377305:E96K;ENSP00000422571:E96K;ENSP00000425303:E96K	ENSP00000354583:E96K	E	-	1	0	MFAP3L	171163318	.	.	0.344000	0.25628	0.312000	0.27988	.	.	0.952000	0.37798	-0.304000	0.09214	GAG	MFAP3L	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	C	NM_021647		170926743	-1	no_errors	ENST00000361618	ensembl	human	known	70_37	missense	SNP	0.220	T	T	170926743	C	T	170926743	3	4	126	1	0	0	0	0	1	0	0	0	9539	864	30	1	951	1	MFAP3L	4	170926743	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	24135162	170926743	20227533	38	19546										
CD180	4064	genome.wustl.edu	37	chr5	66479484	66479484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggtttaaggtttgcaagtggGacaggtttttgagttgcaga	15	3	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:66479484G>A	ENST00000256447.4	-	3	1344	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	396					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S396F(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTGCAAGTGGGACAGGTTTTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											128	130	129					5																	66479484		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1187C>T	5.37:g.66479484G>A	ENSP00000256447:p.Ser396Phe		B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S396F	ENST00000256447.4	37	c.1187	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655811	0.29425	.	.	ENSG00000134061	ENST00000256447	T	0.58506	0.33	4.81	-2.94	0.05581	.	1.305820	0.05120	N	0.490555	T	0.51652	0.1687	L	0.48260	1.515	0.09310	N	1	P	0.50066	0.931	P	0.46825	0.528	T	0.48317	-0.9046	10	0.45353	T	0.12	.	4.894	0.13740	0.1917:0.4414:0.2757:0.0912	.	396	Q99467	CD180_HUMAN	F	396	ENSP00000256447:S396F	ENSP00000256447:S396F	S	-	2	0	CD180	66515240	0.000000	0.05858	0.000000	0.03702	0.609000	0.37215	-1.725000	0.01863	-0.956000	0.03631	0.563000	0.77884	TCC	CD180	-	smart_Leu-rich_rpt_typical-subtyp		0.458	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	G	NM_005582		66479484	-1	no_errors	ENST00000256447	ensembl	human	known	70_37	missense	SNP	0.000	A	A	66479484	G	A	66479484	3	1	126	1	0	0	0	0	1	0	0	0	2977	1174	41	1	802	1	CD180	5	66479484	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		66479484	114435776	39	19547										
POLR3G	10622	genome.wustl.edu	37	chr5	89802378	89802378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gaggtgatggtgaaaaatcaGatgaggaaaatgaagagaaa	14	1	1	6			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:89802378G>A	ENST00000399107.1	+	7	672	c.472G>A	c.(472-474)Gat>Aat	p.D158N	POLR3G_ENST00000504930.1_Missense_Mutation_p.D158N	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	158	Glu-rich.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)	p.D158N(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		tgaaaaatcagatgaggaaaa	0.393																																																	1	Substitution - Missense(1)	cervix(1)											90	86	87					5																	89802378		1905	4124	6029	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.472G>A	5.37:g.89802378G>A	ENSP00000382058:p.Asp158Asn		A8MTH0	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.D158N	ENST00000399107.1	37	c.472	CCDS43337.1	5	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531678	0.45073	.	.	ENSG00000113356	ENST00000503373;ENST00000399107;ENST00000504930	.	.	.	4.28	3.4	0.38934	.	0.481888	0.21610	N	0.071817	T	0.59972	0.2233	L	0.56769	1.78	0.46798	D	0.999202	P	0.44380	0.834	P	0.49708	0.62	T	0.57849	-0.7740	9	0.39692	T	0.17	-13.1529	9.6573	0.39934	0.0:0.0:0.7925:0.2075	.	158	O15318	RPC7_HUMAN	N	158	.	ENSP00000382058:D158N	D	+	1	0	POLR3G	89838134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.116000	0.57871	1.120000	0.41904	0.655000	0.94253	GAT	POLR3G	-	pfam_RNA_pol_III_Rpc31		0.393	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1	G	NM_006467		89802378	1	no_errors	ENST00000399107	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89802378	G	A	89802378	3	1	126	1	0	0	0	0	1	0	0	0	12258	942	33	1	494	1	POLR3G	5	89802378	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	23322894	89802378	91112882	40	19548										
APC	324	genome.wustl.edu	37	chr5	112175921	112175921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cagaatcagagcagcctaaaGaatcaaatgaaaaccaagag	8	8	2	5			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:112175921G>C	ENST00000457016.1	+	16	5010	c.4630G>C	c.(4630-4632)Gaa>Caa	p.E1544Q	APC_ENST00000257430.4_Missense_Mutation_p.E1544Q|APC_ENST00000508376.2_Missense_Mutation_p.E1544Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1544	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1544*(1)|p.E1544Q(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCAGCCTAAAGAATCAAATGA	0.348		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	4	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)|Deletion - Frameshift(1)	cervix(1)|large_intestine(1)|soft_tissue(1)|skin(1)											77	83	81					5																	112175921		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4630G>C	5.37:g.112175921G>C	ENSP00000413133:p.Glu1544Gln		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E1544Q	ENST00000457016.1	37	c.4630	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384364	0.25031	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90069	-2.61;-2.61;-2.61	6.16	5.28	0.74379	.	0.202136	0.51477	N	0.000084	D	0.87581	0.6213	M	0.61703	1.905	0.48395	D	0.999646	B;B	0.16166	0.016;0.016	B;B	0.12156	0.007;0.007	D	0.83385	0.0014	9	.	.	.	-14.6066	17.4892	0.87698	0.0:0.124:0.876:0.0	.	1546;1544	Q4LE70;P25054	.;APC_HUMAN	Q	1544	ENSP00000413133:E1544Q;ENSP00000257430:E1544Q;ENSP00000427089:E1544Q	.	E	+	1	0	APC	112203820	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	4.511000	0.60462	1.574000	0.49760	0.650000	0.86243	GAA	APC	-	NULL		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112175921	1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112175921	G	C	112175921	3	2	126	1	0	0	0	0	1	0	0	0	763	943	33	1	4688	1	APC	5	112175921	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	22373543	112175921	68739339	41	19549										
ATG12	9140	genome.wustl.edu	37	chr5	115167552	115167552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aaaaccagtttaccatcactGccaaaacactacaaaaaaaa	2	11	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:115167552G>A	ENST00000509910.1	-	4	677	c.372C>T	c.(370-372)ggC>ggT	p.G124G	ATG12_ENST00000500945.2_3'UTR|ATG12_ENST00000509598.1_5'UTR|ATG12_ENST00000274459.4_Silent_p.G171G			O94817	ATG12_HUMAN	autophagy related 12	124					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TACCATCACTGCCAAAACACT	0.333																																																	0													47	41	43					5																	115167552		2202	4300	6502	SO:0001819	synonymous_variant	9140			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.372C>T	5.37:g.115167552G>A			Q6PJV2	Silent	SNP	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like	p.G171	ENST00000509910.1	37	c.513	CCDS4122.2	5																																																																																			ATG12	-	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like		0.333	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG12	HGNC	protein_coding	OTTHUMT00000250851.3	G	NM_004707		115167552	-1	no_errors	ENST00000274459	ensembl	human	known	70_37	silent	SNP	1.000	A	A	115167552	G	A	115167552	2	1	126	1	0	0	0	0	0	0	0	1	1091	1306	46	4		4	ATG12	5	115167552	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	2991631	115167552	65747708	42	19550										
GFRA3	2676	genome.wustl.edu	37	chr5	137589024	137589024	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgtggccagtcctgggagaaGagttggctgtgaaaacgcat	15	7	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:137589024G>C	ENST00000274721.3	-	7	1311	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	GFRA3_ENST00000378362.3_Silent_p.L324L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	355					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.L355L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTGGGAGAAGAGTTGGCTGT	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											82	64	70					5																	137589024		2202	4299	6501	SO:0001819	synonymous_variant	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.1065C>G	5.37:g.137589024G>C			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.L355	ENST00000274721.3	37	c.1065	CCDS4201.1	5																																																																																			GFRA3	-	prints_GDNF_rcpt_A3		0.572	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	G	NM_001496		137589024	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	silent	SNP	0.807	C	C	137589024	G	C	137589024	2	2	126	1	0	0	0	0	0	0	0	1	6368	929	33	1		1	GFRA3	5	137589024	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	22421472	137589024	43326236	43	19551										
HIST1H2BL	8340	genome.wustl.edu	37	chr6	27775463	27775463	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aggcgggaagcctcgcttgcGatgcgctcgaagatgtcgtt	15	10	0	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:27775463G>T	ENST00000377401.2	-	1	246	c.222C>A	c.(220-222)atC>atA	p.I74I	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	74					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTCGCTTGCGATGCGCTCGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											152	144	147					6																	27775463		2203	4300	6503	SO:0001819	synonymous_variant	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.222C>A	6.37:g.27775463G>T			B2R5A3|Q52LW9	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74	ENST00000377401.2	37	c.222	CCDS4625.1	6																																																																																			HIST1H2BL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.612	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BL	HGNC	protein_coding	OTTHUMT00000040153.1	G	NM_003519		27775463	-1	no_errors	ENST00000377401	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27775463	G	T	27775463	2	4	126	1	0	0	0	0	0	0	0	1	7171	1048	37	3		3	HIST1H2BL	6	27775463	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		27775463	143339604	44	19552										
SLC44A4	80736	genome.wustl.edu	37	chr6	31831514	31831514	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cagggagccgttgttccgctCcaggtcttccactgagccgc	12	15	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:31831514C>G	ENST00000229729.6	-	21	2043	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	SLC44A4_ENST00000544672.1_Missense_Mutation_p.E599Q|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Missense_Mutation_p.E633Q	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	675					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E675Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TTGTTCCGCTCCAGGTCTTCC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											41	44	43					6																	31831514		1509	2709	4218	SO:0001583	missense	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2023G>C	6.37:g.31831514C>G	ENSP00000229729:p.Glu675Gln		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.E675Q	ENST00000229729.6	37	c.2023	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.418834	0.96092	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.25414	1.8;1.8;1.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64939	-0.6289	10	0.87932	D	0	-28.6037	18.1759	0.89761	0.0:1.0:0.0:0.0	.	675	Q53GD3	CTL4_HUMAN	Q	675;633;599	ENSP00000229729:E675Q;ENSP00000364712:E633Q;ENSP00000444109:E599Q	ENSP00000229729:E675Q	E	-	1	0	SLC44A4	31939493	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.209000	0.77916	2.826000	0.97356	0.655000	0.94253	GAG	SLC44A4	-	pfam_Choline_transptr-like		0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	C			31831514	-1	no_errors	ENST00000229729	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31831514	C	G	31831514	3	3	126	1	0	0	0	0	1	0	0	0	14668	864	30	1	113	1	SLC44A4	6	31831514	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	4056051	31831514	139283553	45	19553										
ECHDC1	55862	genome.wustl.edu	37	chr6	127611068	127611068	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tctaaatttgcaggcccaccCcaaactgttcctaaaagatc	5	13	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:127611068C>T	ENST00000531967.1	-	6	1373	c.870G>A	c.(868-870)tgG>tgA	p.W290*	ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Nonsense_Mutation_p.W284*|ECHDC1_ENST00000454591.2_Nonsense_Mutation_p.W209*|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000430841.2_Nonsense_Mutation_p.W284*|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Nonsense_Mutation_p.W284*|ECHDC1_ENST00000309620.9_Nonsense_Mutation_p.W267*	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	290						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)	p.W290*(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CAGGCCCACCCCAAACTGTTC	0.373																																																	1	Substitution - Nonsense(1)	cervix(1)											89	86	87					6																	127611068		1810	4074	5884	SO:0001587	stop_gained	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.870G>A	6.37:g.127611068C>T	ENSP00000436585:p.Trp290*		A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Nonsense_Mutation	SNP	pfam_Crotonase_core	p.W290*	ENST00000531967.1	37	c.870	CCDS47471.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.295076	0.95574	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	.	.	.	5.22	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	.	.	.	X	284;290;284;209;267;284	.	ENSP00000311115:W267X	W	-	3	0	ECHDC1	127652761	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	TGG	ECHDC1	-	NULL		0.373	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	C			127611068	-1	no_errors	ENST00000531967	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	127611068	C	T	127611068	4	4	126	1	0	0	0	0	0	1	0	0	4903	624	22	4	57	4	ECHDC1	6	127611068	Nonsense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	95779554	127611068	43503999	46	19554										
MAP3K4	4216	genome.wustl.edu	37	chr6	161470014	161470014	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acttttgctaaagcttacctCagtctcaaagaaaaaagaca	5	9	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:161470014C>T	ENST00000392142.4	+	3	858	c.710C>T	c.(709-711)tCa>tTa	p.S237L	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S237L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S237L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S237L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	237					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S237L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGCTTACCTCAGTCTCAAAG	0.433																																																	2	Substitution - Missense(2)	cervix(2)											41	41	41					6																	161470014		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.710C>T	6.37:g.161470014C>T	ENSP00000375986:p.Ser237Leu		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.S237L	ENST00000392142.4	37	c.710	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.430729	0.96150	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.75704	-0.95;-0.96;-0.96;-0.95	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000001	D	0.83018	0.5163	M	0.68952	2.095	0.80722	D	1	D;D	0.67145	0.99;0.996	P;P	0.62649	0.829;0.905	T	0.82690	-0.0332	10	0.72032	D	0.01	-19.6238	20.819	0.99723	0.0:1.0:0.0:0.0	.	237;237	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	L	237	ENSP00000355886:S237L;ENSP00000375986:S237L;ENSP00000355887:S237L;ENSP00000297332:S237L	ENSP00000297332:S237L	S	+	2	0	MAP3K4	161390004	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.454000	0.80714	2.927000	0.99377	0.637000	0.83480	TCA	MAP3K4	-	NULL		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161470014	1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	T	T	161470014	C	T	161470014	3	4	126	1	0	0	0	0	1	0	0	0	9275	838	29	1	720	1	MAP3K4	6	161470014	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	33858946	161470014	9645053	47	19555										
HOXA4	3201	genome.wustl.edu	37	chr7	27169068	27169068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acagagcgtgtgggcgatctCgatgcggcgccgccgggtca	17	12	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:27169068C>T	ENST00000360046.5	-	2	804	c.739G>A	c.(739-741)Gag>Aag	p.E247K	HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.E247K|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	247					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E247K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TGGGCGATCTCGATGCGGCGC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											180	154	163					7																	27169068		2203	4300	6503	SO:0001583	missense	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.739G>A	7.37:g.27169068C>T	ENSP00000353151:p.Glu247Lys		A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E247K	ENST00000360046.5	37	c.739	CCDS5405.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.196607|5.196607	0.94960|0.94960	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.96522|.	-4.04;-4.04|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.083044|.	0.45606|.	D|.	0.000347|.	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.70494|0.70494	-0.4856|-0.4856	10|5	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	247|.	Q00056|.	HXA4_HUMAN|.	K|Q	247|66	ENSP00000353151:E247K;ENSP00000408845:E247K|.	ENSP00000353151:E247K|.	E|R	-|-	1|2	0|0	HOXA4|HOXA4	27135593|27135593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.728000|7.728000	0.84847|0.84847	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GAG|CGA	HOXA4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.577	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	C			27169068	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27169068	C	T	27169068	3	4	126	1	0	0	0	0	1	0	0	0	7314	893	31	1	227	1	HOXA4	7	27169068	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		27169068	131969595	48	19556										
PDE1C	5137	genome.wustl.edu	37	chr7	31904683	31904683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cctccacaaatgagacaagtGcagaaatggggatctgaaag	11	8	1	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:31904683G>A	ENST00000396191.1	-	7	1078	c.623C>T	c.(622-624)gCa>gTa	p.A208V	PDE1C_ENST00000396182.2_Missense_Mutation_p.A208V|PDE1C_ENST00000396193.1_Missense_Mutation_p.A268V|PDE1C_ENST00000396184.3_Missense_Mutation_p.A208V|PDE1C_ENST00000321453.7_Missense_Mutation_p.A208V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	208	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A208V(2)|p.A268V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGAGACAAGTGCAGAAATGGG	0.443																																																	3	Substitution - Missense(3)	cervix(3)											125	112	117					7																	31904683		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.623C>T	7.37:g.31904683G>A	ENSP00000379494:p.Ala208Val		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.A208V	ENST00000396191.1	37	c.623	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670965	0.47781	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.88	5.88	0.94601	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.046819	0.85682	D	0.000000	T	0.48314	0.1493	N	0.01705	-0.755	0.80722	D	1	B;B;P	0.35456	0.014;0.402;0.502	B;B;B	0.27887	0.053;0.074;0.084	T	0.55088	-0.8195	10	0.15066	T	0.55	.	19.8116	0.96549	0.0:0.0:1.0:0.0	.	208;268;208	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	V	268;208;208;208;208	ENSP00000379496:A268V;ENSP00000379494:A208V;ENSP00000318105:A208V;ENSP00000379487:A208V;ENSP00000379485:A208V	ENSP00000318105:A208V	A	-	2	0	PDE1C	31871208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.781000	0.95711	0.591000	0.81541	GCA	PDE1C	-	NULL		0.443	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	G			31904683	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31904683	G	A	31904683	3	1	126	1	0	0	0	0	1	0	0	0	11659	1319	46	4	1325	4	PDE1C	7	31904683	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	4735615	31904683	127233980	49	19557										
CD36	948	genome.wustl.edu	37	chr7	80292452	80292452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tttttgagtttggttccgtaCcctgttactaccacagttgg	9	9	0	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:80292452C>T	ENST00000435819.1	+	9	1260	c.576C>T	c.(574-576)taC>taT	p.Y192Y	CD36_ENST00000534394.1_Silent_p.Y116Y|CD36_ENST00000432207.1_Silent_p.Y192Y|CD36_ENST00000544133.1_Silent_p.Y192Y|CD36_ENST00000433696.2_Silent_p.Y192Y|CD36_ENST00000394788.3_Silent_p.Y192Y|CD36_ENST00000309881.7_Silent_p.Y192Y|CD36_ENST00000538969.1_Intron|CD36_ENST00000447544.2_Silent_p.Y192Y			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	192					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)	p.Y192Y(4)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGTTCCGTACCCTGTTACTA	0.338																																																	4	Substitution - coding silent(4)	cervix(4)											174	167	169					7																	80292452		2203	4300	6503	SO:0001819	synonymous_variant	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.576C>T	7.37:g.80292452C>T			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.Y192	ENST00000435819.1	37	c.576	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36_antigen		0.338	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	C	NM_001001547		80292452	1	no_errors	ENST00000309881	ensembl	human	known	70_37	silent	SNP	0.000	T	T	80292452	C	T	80292452	2	4	126	1	0	0	0	0	0	0	0	1	3012	518	18	4		4	CD36	7	80292452	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	48387769	80292452	78846211	50	19558										
MGAM	8972	genome.wustl.edu	37	chr7	141705385	141705385	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tggagattgtgctcagtgttCttctgcttgtgttgtttatc	11	6	3	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:141705385C>A	ENST00000549489.2	+	2	150	c.55C>A	c.(55-57)Ctt>Att	p.L19I	MGAM_ENST00000475668.2_Missense_Mutation_p.L19I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	19					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L19I(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCAGTGTTCTTCTGCTTGT	0.343																																																	4	Substitution - Missense(4)	cervix(4)											110	104	106					7																	141705385		1847	4096	5943	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.55C>A	7.37:g.141705385C>A	ENSP00000447378:p.Leu19Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.L19I	ENST00000549489.2	37	c.55	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653150	0.29425	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.90444	-1.1;-2.67;0.1	4.42	1.38	0.22167	.	0.162448	0.29579	N	0.011760	D	0.85639	0.5743	L	0.49126	1.545	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.74054	-0.3788	10	0.37606	T	0.19	.	9.9545	0.41657	0.5393:0.4607:0.0:0.0	.	19	O43451	MGA_HUMAN	I	19	ENSP00000419372:L19I;ENSP00000447378:L19I;ENSP00000417103:L19I	ENSP00000373973:L19I	L	+	1	0	MGAM	141351854	0.459000	0.25768	0.116000	0.21606	0.981000	0.71138	0.652000	0.24888	0.282000	0.22254	0.655000	0.94253	CTT	MGAM	-	NULL		0.343	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	C			141705385	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.147	A	A	141705385	C	A	141705385	3	1	126	1	0	0	0	0	1	0	0	0	9564	913	32	3	57	3	MGAM	7	141705385	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	61412933	141705385	17433278	51	19559										
CA2	760	genome.wustl.edu	37	chr8	86377680	86377680	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctttcaacgtggagtttgatGactctcaggacaaagcaggt	11	8	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr8:86377680G>A	ENST00000285379.5	+	2	444	c.214G>A	c.(214-216)Gac>Aac	p.D72N	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000524052.1_RNA	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	72					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D72N(1)		central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGAGTTTGATGACTCTCAGGA	0.463																																																	1	Substitution - Missense(1)	cervix(1)											88	72	78					8																	86377680		2203	4300	6503	SO:0001583	missense	760			J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.214G>A	8.37:g.86377680G>A	ENSP00000285379:p.Asp72Asn		B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.D72N	ENST00000285379.5	37	c.214	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.081020	0.94050	.	.	ENSG00000104267	ENST00000285379	T	0.70045	-0.45	5.45	5.45	0.79879	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.042909	0.85682	D	0.000000	T	0.67692	0.2920	M	0.69463	2.115	0.80722	D	1	B	0.16396	0.017	B	0.16289	0.015	T	0.66312	-0.5955	10	0.72032	D	0.01	-5.6275	17.8741	0.88819	0.0:0.0:1.0:0.0	.	72	P00918	CAH2_HUMAN	N	72	ENSP00000285379:D72N	ENSP00000285379:D72N	D	+	1	0	CA2	86564932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.611000	0.82962	2.563000	0.86464	0.650000	0.86243	GAC	CA2	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.463	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	HGNC	protein_coding	OTTHUMT00000381097.2	G	NM_000067		86377680	1	no_errors	ENST00000285379	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86377680	G	A	86377680	3	1	126	1	0	0	0	0	1	0	0	0	2521	1290	45	1	220	1	CA2	8	86377680	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		86377680	59986342	52	19560										
SMARCA2	6595	genome.wustl.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs376509101|rs62639301	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																																	0													10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.Q223	ENST00000382203.1	37	c.669	CCDS34977.1	9																																																																																			SMARCA2	-	NULL		0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2039779	1	no_errors	ENST00000349721	ensembl	human	known	70_37	silent	SNP	0.625	A	A	2039779	G	A	2039779	2	1	126	1	0	0	0	0	0	0	0	1	14799	962	34	4		4	SMARCA2	9	2039779	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		2039779	139173652	53	19561										
SPTAN1	6709	genome.wustl.edu	37	chr9	131351132	131351132	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gagactgggaaggagctggtCttggctctctacgactatca	13	9	3	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr9:131351132C>G	ENST00000372731.4	+	21	3026	c.2916C>G	c.(2914-2916)gtC>gtG	p.V972V	SPTAN1_ENST00000358161.5_Silent_p.V972V|SPTAN1_ENST00000372739.3_Silent_p.V972V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	972	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V972V(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGAGCTGGTCTTGGCTCTCT	0.507																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - coding silent(1)	cervix(1)											138	118	124					9																	131351132		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2916C>G	9.37:g.131351132C>G			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.V972	ENST00000372731.4	37	c.2916	CCDS6905.1	9																																																																																			SPTAN1	-	superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain		0.507	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131351132	1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	0.425	G	G	131351132	C	G	131351132	2	3	126	1	0	0	0	0	0	0	0	1	15147	900	32	1		1	SPTAN1	9	131351132	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	129311353	131351132	9862299	54	19562										
ASS1	445	genome.wustl.edu	37	chr9	133370371	133370371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ccaggtgtacatcctcggccGggagtccccactgtctctct	10	16	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr9:133370371G>A	ENST00000372394.1	+	14	1569	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	ASS1_ENST00000372393.3_Missense_Mutation_p.R363Q|ASS1_ENST00000352480.5_Missense_Mutation_p.R363Q			P00966	ASSY_HUMAN	argininosuccinate synthase 1	363			R -> G (in CTLN1). {ECO:0000269|PubMed:16475226}.|R -> L (in CTLN1). {ECO:0000269|PubMed:7977368}.|R -> Q (in CTLN1). {ECO:0000269|PubMed:12815590}.|R -> W (in CTLN1). {ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:2358466}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.R363Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATCCTCGGCCGGGAGTCCCCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM031630|CM940129	ASS1	M							61	56	58					9																	133370371		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.1088G>A	9.37:g.133370371G>A	ENSP00000361471:p.Arg363Gln		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.R363Q	ENST00000372394.1	37	c.1088	CCDS6933.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298984	0.81025	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95	4.64	4.64	0.57946	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.64402	U	0.000003	D	0.99214	0.9727	M	0.92923	3.36	0.80722	D	1	P;D;D;P;P	0.65815	0.91;0.995;0.995;0.91;0.91	B;P;P;B;B	0.44732	0.204;0.459;0.459;0.204;0.204	D	0.99509	1.0955	10	0.87932	D	0	.	16.1121	0.81271	0.0:0.0:1.0:0.0	.	363;246;246;363;363	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	Q	363;363;363;363;120	ENSP00000253004:R363Q;ENSP00000361471:R363Q;ENSP00000361469:R363Q;ENSP00000361461:R120Q	ENSP00000361470:R363Q	R	+	2	0	ASS1	132360192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.172000	0.94808	2.129000	0.65627	0.549000	0.68633	CGG	ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.582	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	G	NM_000050		133370371	1	no_errors	ENST00000334909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133370371	G	A	133370371	3	1	126	1	0	0	0	0	1	0	0	0	1062	1116	39	2	1134	2	ASS1	9	133370371	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	2019239	133370371	7843060	55	19563										
C10orf18	54906	genome.wustl.edu	37	chr10	5789975	5789976	+	Frame_Shift_Ins	INS	-	-	C													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gttaaaccagcctgcctcagINSctgccaaatgcacaggtgac					rs374137069|rs3082216	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:5789975_5789976insC	ENST00000328090.5	+	15	5216_5217	c.4591_4592insC	c.(4591-4593)gctfs	p.A1531fs		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1531																	GCCTGCCTCAGCTGCCAAATGC	0.421																																																	0										419,3291		19,381,1455						-3.1	0		dbSNP_131	58	16,7930		0,16,3957	no	frameshift	FAM208B	NM_017782.4		19,397,5412	A1A1,A1R,RR		0.2014,11.2938,3.732				435,11221				SO:0001589	frameshift_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4592dupC	10.37:g.5789976_5789976dupC	ENSP00000328426:p.Ala1531fs		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Frame_Shift_Ins	INS	pfam_DUF3715,pfam_DUF3699	p.A1532fs	ENST00000328090.5	37	c.4591_4592	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.421	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	NM_017782		5789976	1	no_errors	ENST00000328090	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C	C	5789976	-	C	5789975	7	5	126	1	0	1	1	0	0	0	0	0	1600	971	34	0	4637	0	C10orf18	10	5789975	Frame_Shift_Ins	INS	-	TCGA-FU-A23K-01A-11D-A16O-08		5789975	129744772	56	19564										
PTEN	5728	genome.wustl.edu	37	chr10	89717609	89717609	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggtatgtatttaaccatgcaGatcctcagtttgtggtctgc	10	8	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:89717609G>A	ENST00000371953.3	+	7	1991		c.e7-1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAACCATGCAGATCCTCAGTT	0.383		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(7)|Deletion - In frame(1)	prostate(16)|central_nervous_system(10)|skin(6)|endometrium(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|breast(2)|cervix(1)|soft_tissue(1)|urinary_tract(1)	GRCh37	CS090867|CS993675	PTEN	S							108	95	100					10																	89717609		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.635-1G>A	10.37:g.89717609G>A			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e7-1	ENST00000371953.3	37	c.635-1	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689933	0.88735	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7712	0.96366	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89707589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.677000	0.91161	0.585000	0.79938	.	PTEN	-	-		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314	Intron	89717609	1	no_errors	ENST00000371953	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	89717609	G	A	89717609	5	1	126	1	0	0	0	0	0	0	1	0	12765	956	33	1	660	1	PTEN	10	89717609	Splice_Site	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	83927634	89717609	45817138	57	19565										
SORCS3	22986	genome.wustl.edu	37	chr10	106976806	106976806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gcacgtgtataagagtgcggGgatcttccaggtgacagcct	14	9	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:106976806G>A	ENST00000369701.3	+	19	2887	c.2660G>A	c.(2659-2661)gGg>gAg	p.G887E	SORCS3_ENST00000369699.4_Missense_Mutation_p.G173E	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	887	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.G887E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGAGTGCGGGGATCTTCCAG	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)												1	Substitution - Missense(1)	cervix(1)											186	144	158					10																	106976806		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2660G>A	10.37:g.106976806G>A	ENSP00000358715:p.Gly887Glu		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G887E	ENST00000369701.3	37	c.2660	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.095163	0.94197	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	D;D	0.94497	-3.44;-3.44	5.87	5.87	0.94306	PKD domain (4);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96266	0.9195	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	887	Q9UPU3	SORC3_HUMAN	E	887;173	ENSP00000358715:G887E;ENSP00000358713:G173E	.	G	+	2	0	SORCS3	106966796	1.000000	0.71417	0.989000	0.46669	0.912000	0.54170	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGG	SORCS3	-	pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	G	NM_014978		106976806	1	no_errors	ENST00000369701	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106976806	G	A	106976806	3	1	126	1	0	0	0	0	1	0	0	0	14962	1232	43	4	2734	4	SORCS3	10	106976806	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	17259197	106976806	28557941	58	19566										
MKI67	4288	genome.wustl.edu	37	chr10	129913693	129913693	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cacagccttgctgggagtctGaacagactccacgtctcttc	9	14	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:129913693G>T	ENST00000368654.3	-	7	1354	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	327					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q327K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGAGTCTGAACAGACTCC	0.522																																																	1	Substitution - Missense(1)	cervix(1)											72	79	76					10																	129913693		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.979C>A	10.37:g.129913693G>T	ENSP00000357643:p.Gln327Lys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.Q327K	ENST00000368654.3	37	c.979	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606229	0.28623	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01379	4.96	3.59	1.67	0.24075	.	2.238060	0.01990	N	0.045442	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	P	0.47762	0.9	B	0.41332	0.354	T	0.51124	-0.8745	10	0.87932	D	0	.	9.7716	0.40593	0.0:0.4127:0.5873:0.0	.	327	P46013	KI67_HUMAN	K	327	ENSP00000357643:Q327K	ENSP00000357643:Q327K	Q	-	1	0	MKI67	129803683	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	0.540000	0.23191	0.491000	0.27793	0.655000	0.94253	CAG	MKI67	-	NULL		0.522	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129913693	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.001	T	T	129913693	G	T	129913693	3	4	126	1	0	0	0	0	1	0	0	0	9621	1299	45	3	8827	3	MKI67	10	129913693	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	22936887	129913693	5621054	59	19567										
SPTY2D1	144108	genome.wustl.edu	37	chr11	18637159	18637159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acacagttggaggtagttttCcatctgtctcaagttttttt	8	7	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:18637159C>A	ENST00000336349.5	-	3	897	c.662G>T	c.(661-663)gGa>gTa	p.G221V	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	221								p.G221V(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGGTAGTTTTCCATCTGTCTC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											192	191	191					11																	18637159		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.662G>T	11.37:g.18637159C>A	ENSP00000337991:p.Gly221Val		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.G221V	ENST00000336349.5	37	c.662	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	C	3.352	-0.132329	0.06753	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.29397	1.57	5.85	-1.4	0.08968	.	0.834530	0.10995	N	0.611120	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.27082	T	0.32	0.7115	0.8405	0.01149	0.4182:0.12:0.2149:0.2469	.	221	Q68D10	SPT2_HUMAN	V	221	ENSP00000337991:G221V	ENSP00000331447:G221V	G	-	2	0	SPTY2D1	18593735	0.014000	0.17966	0.731000	0.30826	0.620000	0.37586	0.550000	0.23345	0.070000	0.16634	-1.208000	0.01637	GGA	SPTY2D1	-	NULL		0.443	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	C	NM_194285		18637159	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	0.001	A	A	18637159	C	A	18637159	3	1	126	1	0	0	0	0	1	0	0	0	15156	855	30	3	1411	3	SPTY2D1	11	18637159	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		18637159	116369357	60	19568										
CAT	847	genome.wustl.edu	37	chr11	34478296	34478296	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ttaattactttgctgaggttGaacagatagccttcgaccca	8	9	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:34478296G>A	ENST00000241052.4	+	8	1077	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	330					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E330K(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGCTGAGGTTGAACAGATAGC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											123	107	113					11																	34478296		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.988G>A	11.37:g.34478296G>A	ENSP00000241052:p.Glu330Lys		A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.E330K	ENST00000241052.4	37	c.988	CCDS7891.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.437566	0.96168	.	.	ENSG00000121691	ENST00000241052	D	0.94046	-3.34	6.04	5.12	0.69794	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98397	0.9467	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-32.3063	16.6121	0.84886	0.0:0.0:0.8687:0.1313	.	330	P04040	CATA_HUMAN	K	330	ENSP00000241052:E330K	ENSP00000241052:E330K	E	+	1	0	CAT	34434872	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.837000	0.99465	1.531000	0.49152	0.563000	0.77884	GAA	CAT	-	pfam_Catalase_core,superfamily_Catalase-like_dom,prints_Catalase		0.478	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	G	NM_001752		34478296	1	no_errors	ENST00000241052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34478296	G	A	34478296	3	1	126	1	0	0	0	0	1	0	0	0	2691	1291	45	1	1018	1	CAT	11	34478296	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	15841137	34478296	100528220	61	19569										
CD44	960	genome.wustl.edu	37	chr11	35231516	35231516	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ttcctcattgaaacagagcaGagtaattctcagagcttctc	7	10	3	4			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:35231516G>C	ENST00000428726.2	+	13	1644	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	CD44_ENST00000433892.2_Missense_Mutation_p.Q258H|CD44_ENST00000415148.2_Missense_Mutation_p.Q464H|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.Q464H|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.Q507H|RP1-68D18.2_ENST00000510619.2_RNA|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	507	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.Q507H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AAACAGAGCAGAGTAATTCTC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											118	111	113					11																	35231516		2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1521G>C	11.37:g.35231516G>C	ENSP00000398632:p.Gln507His		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.Q507H	ENST00000428726.2	37	c.1521	CCDS7897.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.55|11.55|11.55	1.670754|1.670754|1.670754	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000026508|ENSG00000026508|ENSG00000026508	ENST00000526553|ENST00000415148;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000433892;ENST00000531110;ENST00000278385;ENST00000533222;ENST00000528672|ENST00000531873;ENST00000525685	.|T;T;T;T;T;T;T;T;T|.	.|0.19532|.	.|2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14|.	5.53|5.53|5.53	2.66|2.66|2.66	0.31614|0.31614|0.31614	.|.|.	.|0.503235|.	.|0.17474|.	.|N|.	.|0.172995|.	T|T|T	0.53850|0.53850|0.53850	0.1822|0.1822|0.1822	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.09310|0.09310|0.09310	N|N|N	0.999996|0.999996|0.999996	.|D;D;D|.	.|0.65815|.	.|0.995;0.983;0.971|.	.|P;P;P|.	.|0.58172|.	.|0.834;0.789;0.707|.	T|T|T	0.44711|0.44711|0.44711	-0.9310|-0.9310|-0.9310	5|10|5	.|0.15952|.	.|T|.	.|0.53|.	-9.4689|-9.4689|-9.4689	7.9437|7.9437|7.9437	0.29974|0.29974|0.29974	0.2583:0.0:0.7417:0.0|0.2583:0.0:0.7417:0.0|0.2583:0.0:0.7417:0.0	.|.|.	.|258;464;507|.	.|P16070-10;P16070-4;P16070|.	.|.;.;CD44_HUMAN|.	Q|H|T	160|464;464;507;507;258;219;94;133;115|145;211	.|ENSP00000389830:Q464H;ENSP00000391008:Q464H;ENSP00000403990:Q507H;ENSP00000398632:Q507H;ENSP00000392331:Q258H;ENSP00000436549:Q219H;ENSP00000278385:Q94H;ENSP00000435321:Q133H;ENSP00000431860:Q115H|.	.|ENSP00000278385:Q94H|.	E|Q|R	+|+|+	1|3|2	0|2|0	CD44|CD44|CD44	35188092|35188092|35188092	0.848000|0.848000|0.848000	0.29623|0.29623|0.29623	0.209000|0.209000|0.209000	0.23619|0.23619|0.23619	0.147000|0.147000|0.147000	0.21601|0.21601|0.21601	0.645000|0.645000|0.645000	0.24782|0.24782|0.24782	0.299000|0.299000|0.299000	0.22661|0.22661|0.22661	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA	CD44	-	NULL		0.383	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	G	NM_000610		35231516	1	no_errors	ENST00000428726	ensembl	human	known	70_37	missense	SNP	0.158	C	C	35231516	G	C	35231516	3	2	126	1	0	0	0	0	1	0	0	0	3022	933	33	1	1571	1	CD44	11	35231516	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	753220	35231516	99775000	62	19570										
LGALS12	85329	genome.wustl.edu	37	chr11	63276260	63276260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctcccagtaggtttcaggtgGacttccagtgtggctgcagc	13	11	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:63276260G>A	ENST00000394618.3	+	3	526	c.235G>A	c.(235-237)Gac>Aac	p.D79N	LGALS12_ENST00000425950.2_Missense_Mutation_p.D18N|LGALS12_ENST00000255684.5_Missense_Mutation_p.D79N|LGALS12_ENST00000340246.5_Missense_Mutation_p.D80N|LGALS12_ENST00000415491.2_Missense_Mutation_p.D18N	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	79	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.D79N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTTTCAGGTGGACTTCCAGTG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											75	73	74					11																	63276260		2201	4298	6499	SO:0001583	missense	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.235G>A	11.37:g.63276260G>A	ENSP00000378116:p.Asp79Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.D80N	ENST00000394618.3	37	c.238	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.069234	0.93950	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.11930	2.73;2.73;3.21;3.67;3.67	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000006	T	0.20577	0.0495	N	0.20986	0.625	0.48830	D	0.999712	P;P;P;D	0.76494	0.794;0.938;0.504;0.999	P;P;B;D	0.75020	0.456;0.826;0.181;0.985	T	0.01114	-1.1447	10	0.02654	T	1	-41.3782	17.5502	0.87873	0.0:0.0:1.0:0.0	.	39;80;79;79	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	N	79;79;80;18;18	ENSP00000255684:D79N;ENSP00000378116:D79N;ENSP00000339374:D80N;ENSP00000394659:D18N;ENSP00000399093:D18N	ENSP00000255684:D79N	D	+	1	0	LGALS12	63032836	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.951000	0.63610	2.824000	0.97209	0.655000	0.94253	GAC	LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.587	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	G	NM_033101		63276260	1	no_errors	ENST00000340246	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63276260	G	A	63276260	3	1	126	1	0	0	0	0	1	0	0	0	8759	1174	41	1	248	1	LGALS12	11	63276260	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	28044744	63276260	71730256	63	19571										
SYT12	91683	genome.wustl.edu	37	chr11	66802123	66802123	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ccttgccttgcagtcatcaaGagcccccctggctgggaggt	12	14	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:66802123G>C	ENST00000393946.2	+	6	1204	c.42G>C	c.(40-42)aaG>aaC	p.K14N	SYT12_ENST00000526281.1_Intron|SYT12_ENST00000525457.1_Missense_Mutation_p.K14N|SYT12_ENST00000527043.1_Missense_Mutation_p.K14N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	14						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.K14N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGTCATCAAGAGCCCCCCTG	0.607																																					Ovarian(65;2862 3307)												1	Substitution - Missense(1)	cervix(1)											39	45	43					11																	66802123		2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.42G>C	11.37:g.66802123G>C	ENSP00000377520:p.Lys14Asn			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K14N	ENST00000393946.2	37	c.42	CCDS8154.1	11	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609624	0.46527	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.12147	2.71;2.71;2.71	4.94	4.94	0.65067	.	0.463445	0.22789	N	0.055638	T	0.08268	0.0206	N	0.14661	0.345	0.34974	D	0.753464	B	0.19583	0.037	B	0.14023	0.01	T	0.14172	-1.0482	10	0.40728	T	0.16	.	9.3269	0.37999	0.0982:0.0:0.9018:0.0	.	14	Q8IV01	SYT12_HUMAN	N	14	ENSP00000377520:K14N;ENSP00000431400:K14N;ENSP00000435316:K14N	ENSP00000377520:K14N	K	+	3	2	SYT12	66558699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.608000	0.24223	2.276000	0.75962	0.563000	0.77884	AAG	SYT12	-	NULL		0.607	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT12	HGNC	protein_coding	OTTHUMT00000393129.1	G	NM_177963		66802123	1	no_errors	ENST00000393946	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66802123	G	C	66802123	3	2	126	1	0	0	0	0	1	0	0	0	15498	933	33	1	48	1	SYT12	11	66802123	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	3525863	66802123	68204393	64	19572										
FGFR1OP2	26127	genome.wustl.edu	37	chr12	27116335	27116335	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cagtaatgaggaaagccattGaaattgacgagcaacagggt	12	6	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr12:27116335G>A	ENST00000229395.3	+	6	913	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.E153K	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	191					wound healing (GO:0042060)	cytosol (GO:0005829)		p.E191K(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GAAAGCCATTGAAATTGACGA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											84	78	80					12																	27116335		2203	4300	6503	SO:0001583	missense	26127			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.571G>A	12.37:g.27116335G>A	ENSP00000229395:p.Glu191Lys		Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	pfam_SIKE,superfamily_DNA-bd_dom_put	p.E191K	ENST00000229395.3	37	c.571	CCDS8709.1	12	.	.	.	.	.	.	.	.	.	.	.	18.00	3.524608	0.64747	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.092128	0.85682	D	0.000000	T	0.59004	0.2162	L	0.47190	1.495	0.80722	D	1	B;B	0.23185	0.081;0.031	B;B	0.25614	0.046;0.062	T	0.52859	-0.8519	9	0.28530	T	0.3	-29.5294	19.6699	0.95907	0.0:0.0:1.0:0.0	.	153;191	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	K	191;153	.	ENSP00000229395:E191K	E	+	1	0	FGFR1OP2	27007602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GAA	FGFR1OP2	-	pfam_SIKE,superfamily_DNA-bd_dom_put		0.378	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	FGFR1OP2	HGNC	protein_coding	OTTHUMT00000402961.1	G	NM_015633		27116335	1	no_errors	ENST00000229395	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27116335	G	A	27116335	3	1	126	1	0	0	0	0	1	0	0	0	5883	1291	45	1	598	1	FGFR1OP2	12	27116335	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		27116335	106735560	65	19573										
ABCD2	225	genome.wustl.edu	37	chr12	40013237	40013237	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	atgcagtatttctgtgttctCtgcagcagggtaagctgctg	12	8	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr12:40013237C>G	ENST00000308666.3	-	1	316	c.181G>C	c.(181-183)Gag>Cag	p.E61Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	61	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.E61Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCTGTGTTCTCTGCAGCAGGG	0.463																																																	1	Substitution - Missense(1)	cervix(1)											146	146	146					12																	40013237		2203	4300	6503	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.181G>C	12.37:g.40013237C>G	ENSP00000310688:p.Glu61Gln		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E61Q	ENST00000308666.3	37	c.181	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	8.966	0.971677	0.18736	.	.	ENSG00000173208	ENST00000308666	D	0.94417	-3.42	4.69	4.69	0.59074	.	0.913097	0.09577	N	0.783380	D	0.85522	0.5716	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.21917	0.037	T	0.74674	-0.3586	9	.	.	.	-29.4118	6.63	0.22851	0.0:0.7236:0.1821:0.0943	.	61	Q9UBJ2	ABCD2_HUMAN	Q	61	ENSP00000310688:E61Q	.	E	-	1	0	ABCD2	38299504	0.001000	0.12720	0.998000	0.56505	0.911000	0.54048	0.242000	0.18087	2.436000	0.82500	0.655000	0.94253	GAG	ABCD2	-	NULL		0.463	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	C	NM_005164		40013237	-1	no_errors	ENST00000308666	ensembl	human	known	70_37	missense	SNP	0.245	G	G	40013237	C	G	40013237	3	3	126	1	0	0	0	0	1	0	0	0	61	922	32	1	2081	1	ABCD2	12	40013237	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	12896902	40013237	93838658	66	19574										
RPH3A	22895	genome.wustl.edu	37	chr12	113314457	113314457	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctccctgcagaggtggctccGagcgaccctgggaccactgc	13	16	0	1	rs140784190	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr12:113314457G>C	ENST00000389385.4	+	13	1454	c.957G>C	c.(955-957)ccG>ccC	p.P319P	RPH3A_ENST00000543106.2_Silent_p.P319P|RPH3A_ENST00000447659.2_Silent_p.P270P|RPH3A_ENST00000548866.1_Silent_p.P270P|RPH3A_ENST00000415485.3_Silent_p.P319P|RPH3A_ENST00000551052.1_Silent_p.P315P|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.P319P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	319	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.P315P(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGGTGGCTCCGAGCGACCCTG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											30	25	26					12																	113314457		2199	4298	6497	SO:0001819	synonymous_variant	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.957G>C	12.37:g.113314457G>C			B7Z3C3|Q96AE0	Silent	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P319	ENST00000389385.4	37	c.957	CCDS44979.1	12																																																																																			RPH3A	-	NULL		0.587	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	G	NM_014954		113314457	1	no_errors	ENST00000389385	ensembl	human	known	70_37	silent	SNP	0.000	C	C	113314457	G	C	113314457	2	2	126	1	0	0	0	0	0	0	0	1	13581	1045	37	1		1	RPH3A	12	113314457	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	73301220	113314457	20537438	67	19575										
MYH6	4624	genome.wustl.edu	37	chr14	23857474	23857474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tagccggtgcttggtcttctCcagtgaggagcacttggcat	13	10	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:23857474C>G	ENST00000356287.3	-	29	4278	c.4249G>C	c.(4249-4251)Gag>Cag	p.E1417Q	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1417Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1417					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E1417Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGGTCTTCTCCAGTGAGGAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											132	126	128					14																	23857474		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4249G>C	14.37:g.23857474C>G	ENSP00000348634:p.Glu1417Gln		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1417Q	ENST00000356287.3	37	c.4249	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	24.7	4.557083	0.86231	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84223	-1.82;-1.82	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.95364	0.8495	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97334	0.9952	9	0.87932	D	0	.	17.8925	0.88877	0.0:1.0:0.0:0.0	.	1417	P13533	MYH6_HUMAN	Q	1417	ENSP00000386041:E1417Q;ENSP00000348634:E1417Q	ENSP00000348634:E1417Q	E	-	1	0	MYH6	22927314	1.000000	0.71417	0.995000	0.50966	0.717000	0.41224	7.492000	0.81482	2.292000	0.77174	0.561000	0.74099	GAG	MYH6	-	pfam_Myosin_tail,superfamily_Prefoldin		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23857474	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23857474	C	G	23857474	3	3	126	1	0	0	0	0	1	0	0	0	10061	864	30	1	1610	1	MYH6	14	23857474	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		23857474	83492066	68	19576										
CLEC14A	161198	genome.wustl.edu	37	chr14	38724396	38724396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gcggccgtccttccccagctCgaagcccgtagcacattcgc	10	18	0	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:38724396C>G	ENST00000342213.2	-	1	1178	c.832G>C	c.(832-834)Gag>Cag	p.E278Q		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	278	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E278Q(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTCCCCAGCTCGAAGCCCGTA	0.672																																																	1	Substitution - Missense(1)	cervix(1)											54	60	58					14																	38724396		2203	4300	6503	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.832G>C	14.37:g.38724396C>G	ENSP00000353013:p.Glu278Gln		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E278Q	ENST00000342213.2	37	c.832	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	C	1.420	-0.573159	0.03882	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.95518	-3.73	3.91	-1.73	0.08081	Epidermal growth factor-like (1);	0.925114	0.08812	N	0.890179	D	0.87585	0.6214	N	0.19112	0.55	0.20403	N	0.999907	B	0.14438	0.01	B	0.11329	0.006	T	0.75119	-0.3430	10	0.19147	T	0.46	-4.2138	4.008	0.09610	0.1564:0.2864:0.46:0.0972	.	278	Q86T13	CLC14_HUMAN	Q	278;43	ENSP00000353013:E278Q	ENSP00000353013:E278Q	E	-	1	0	CLEC14A	37794147	0.000000	0.05858	0.589000	0.28718	0.057000	0.15508	-0.683000	0.05179	-0.316000	0.08690	-0.218000	0.12543	GAG	CLEC14A	-	NULL		0.672	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	C	NM_175060		38724396	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	missense	SNP	0.580	G	G	38724396	C	G	38724396	3	3	126	1	0	0	0	0	1	0	0	0	3504	893	31	1	644	1	CLEC14A	14	38724396	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	14866922	38724396	68625144	69	19577										
DAAM1	23002	genome.wustl.edu	37	chr14	59792443	59792443	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tagaatttgccaaaagatttGaactggtacgtatgcttaca	8	6	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:59792443G>C	ENST00000395125.1	+	8	1074	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	DAAM1_ENST00000351081.1_Missense_Mutation_p.E351Q|DAAM1_ENST00000360909.3_Missense_Mutation_p.E351Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	351	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.E351Q(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAAAGATTTGAACTGGTACG	0.328																																																	1	Substitution - Missense(1)	cervix(1)											122	122	122					14																	59792443		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1051G>C	14.37:g.59792443G>C	ENSP00000378557:p.Glu351Gln		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.E351Q	ENST00000395125.1	37	c.1051	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256439	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.84298	-1.83;-1.83;-1.83	5.35	5.35	0.76521	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.088862	0.85682	D	0.000000	D	0.86793	0.6018	M	0.62723	1.935	0.80722	D	1	P;P	0.39404	0.621;0.672	B;B	0.42995	0.282;0.404	D	0.87106	0.2182	10	0.59425	D	0.04	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	351;351	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	351	ENSP00000354162:E351Q;ENSP00000247170:E351Q;ENSP00000378557:E351Q	ENSP00000247170:E351Q	E	+	1	0	DAAM1	58862196	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GAA	DAAM1	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.328	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59792443	1	no_errors	ENST00000351081	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59792443	G	C	59792443	3	2	126	1	0	0	0	0	1	0	0	0	4220	1291	45	1	1081	1	DAAM1	14	59792443	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	21068047	59792443	47557097	70	19578										
TCL1B	9623	genome.wustl.edu	37	chr14	96152916	96152916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cctgggtgactgtggtcgtgCggttcaatccctcgcgtagg	15	11	1	1	rs75572239		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:96152916C>T	ENST00000340722.7	+	1	163	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	38								p.R38W(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGTGGTCGTGCGGTTCAATCC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											91	82	85					14																	96152916		2203	4300	6503	SO:0001583	missense	9623			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.112C>T	14.37:g.96152916C>T	ENSP00000343223:p.Arg38Trp		A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.R38W	ENST00000340722.7	37	c.112	CCDS32151.1	14	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.43	2.236259	0.39498	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.32023	1.47	2.88	-1.09	0.09904	.	.	.	.	.	T	0.25306	0.0615	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.32877	-0.9890	9	0.87932	D	0	.	6.1796	0.20463	0.0:0.4734:0.0:0.5266	.	38	O95988	TCL1B_HUMAN	W	38	ENSP00000343223:R38W	ENSP00000343223:R38W	R	+	1	2	TCL1B	95222669	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.033000	0.03571	-0.257000	0.09459	-0.391000	0.06502	CGG	TCL1B	-	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1		0.657	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCL1B	HGNC	protein_coding	OTTHUMT00000315123.2	C			96152916	1	no_errors	ENST00000340722	ensembl	human	known	70_37	missense	SNP	0.000	T	T	96152916	C	T	96152916	3	4	126	1	0	0	0	0	1	0	0	0	15735	759	27	2	114	2	TCL1B	14	96152916	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	36360473	96152916	11196624	71	19579										
AHNAK2	113146	genome.wustl.edu	37	chr14	105404558	105404558	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cagttcaccctcttccttctCttcaggggagaaactttctc	6	14	5	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:105404558C>G	ENST00000333244.5	-	7	17349	c.17230G>C	c.(17230-17232)Gag>Cag	p.E5744Q	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E742Q	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5744						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E5744Q(1)|p.E714Q(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCCTTCTCTTCAGGGGAG	0.507																																																	2	Substitution - Missense(2)	cervix(2)											50	52	51					14																	105404558		1925	4126	6051	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.17230G>C	14.37:g.105404558C>G	ENSP00000353114:p.Glu5744Gln		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5744Q	ENST00000333244.5	37	c.17230	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167829	0.78339	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.04862	3.55;3.54	5.05	5.05	0.67936	.	0.000000	0.43919	U	0.000511	T	0.17323	0.0416	L	0.43923	1.385	0.33750	D	0.620464	D	0.76494	0.999	D	0.69479	0.964	T	0.08106	-1.0738	10	0.33141	T	0.24	.	16.5941	0.84791	0.0:1.0:0.0:0.0	.	5744	Q8IVF2	AHNK2_HUMAN	Q	742;5744	ENSP00000450998:E742Q;ENSP00000353114:E5744Q	ENSP00000353114:E5744Q	E	-	1	0	AHNAK2	104475603	1.000000	0.71417	0.070000	0.20053	0.198000	0.23893	4.671000	0.61590	2.353000	0.79882	0.655000	0.94253	GAG	AHNAK2	-	NULL		0.507	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105404558	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.968	G	G	105404558	C	G	105404558	3	3	126	1	0	0	0	0	1	0	0	0	415	922	32	1	161	1	AHNAK2	14	105404558	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	9251642	105404558	1944982	72	19580			2	91		3	3	1465	C		1.656898e-05
AHNAK2	113146	genome.wustl.edu	37	chr14	105405820	105405820	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gaggagtctcatctatttctCctggaagaacctgggtttct	10	9	4	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:105405820C>G	ENST00000333244.5	-	7	16087	c.15968G>C	c.(15967-15969)gGa>gCa	p.G5323A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G321A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5323						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G293A(1)|p.G5323A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTATTTCTCCTGGAAGAAC	0.493																																																	2	Substitution - Missense(2)	cervix(2)											39	39	39					14																	105405820		1894	4112	6006	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15968G>C	14.37:g.105405820C>G	ENSP00000353114:p.Gly5323Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G5323A	ENST00000333244.5	37	c.15968	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	4.114	0.019378	0.08006	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02863	4.13;6.02	4.28	-2.23	0.06930	.	1.632970	0.04026	N	0.300653	T	0.01870	0.0059	L	0.27053	0.805	0.09310	N	1	B	0.17268	0.021	B	0.18871	0.023	T	0.42699	-0.9436	10	0.07175	T	0.84	-6.4549	1.0373	0.01551	0.1389:0.2841:0.2751:0.3019	.	5323	Q8IVF2	AHNK2_HUMAN	A	321;5323	ENSP00000450998:G321A;ENSP00000353114:G5323A	ENSP00000353114:G5323A	G	-	2	0	AHNAK2	104476865	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.214000	0.09292	-0.279000	0.09167	0.313000	0.20887	GGA	AHNAK2	-	NULL		0.493	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105405820	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	G	G	105405820	C	G	105405820	3	3	126	1	0	0	0	0	1	0	0	0	415	855	30	1	1423	1	AHNAK2	14	105405820	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	1262	105405820	1943720	73	19581			2	91		3	3	1465	C		1.656898e-05
AHNAK2	113146	genome.wustl.edu	37	chr14	105406022	105406022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gctctcagaagctgtcacttCtgcatctgcctctgggagct	10	13	5	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:105406022C>T	ENST00000333244.5	-	7	15885	c.15766G>A	c.(15766-15768)Gaa>Aaa	p.E5256K	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E254K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5256						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E226K(1)|p.E5256K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGTCACTTCTGCATCTGCC	0.512																																																	2	Substitution - Missense(2)	cervix(2)											169	182	178					14																	105406022		2059	4217	6276	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15766G>A	14.37:g.105406022C>T	ENSP00000353114:p.Glu5256Lys		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5256K	ENST00000333244.5	37	c.15766	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196990	0.38806	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03124	4.04;5.3	4.75	1.51	0.23008	.	1.278490	0.05894	U	0.628807	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.41998	-0.9477	10	0.06757	T	0.87	.	7.6745	0.28478	0.0:0.6001:0.3099:0.0899	.	5256	Q8IVF2	AHNK2_HUMAN	K	254;5256	ENSP00000450998:E254K;ENSP00000353114:E5256K	ENSP00000353114:E5256K	E	-	1	0	AHNAK2	104477067	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	0.140000	0.16056	0.486000	0.27676	0.561000	0.74099	GAA	AHNAK2	-	NULL		0.512	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105406022	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	T	T	105406022	C	T	105406022	3	4	126	1	0	0	0	0	1	0	0	0	415	922	32	1	1625	1	AHNAK2	14	105406022	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	202	105406022	1943518	74	19582			2	91		3	3	1465	C		1.656898e-05
GABRB3	2562	genome.wustl.edu	37	chr15	27017880	27017880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cctttcaacagcttgtccacCgtctccttcacaaaggacat	5	15	3	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:27017880C>T	ENST00000311550.5	-	2	231	c.120G>A	c.(118-120)acG>acA	p.T40T	GABRB3_ENST00000541819.2_Silent_p.T96T|GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000299267.4_Silent_p.T40T	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	40					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.T40T(2)|p.T96T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTTGTCCACCGTCTCCTTCA	0.667																																																	3	Substitution - coding silent(3)	cervix(3)											55	49	51					15																	27017880		2202	4300	6502	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.120G>A	15.37:g.27017880C>T			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.T40	ENST00000311550.5	37	c.120	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.667	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	C			27017880	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	silent	SNP	0.993	T	T	27017880	C	T	27017880	2	4	126	1	0	0	0	0	0	0	0	1	6186	639	23	2		2	GABRB3	15	27017880	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		27017880	75513512	75	19583										
HERC2	8924	genome.wustl.edu	37	chr15	28517458	28517458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gggcgctggtgccctgggcgGaacgctcattgtcagtctcc	15	13	3	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:28517458G>A	ENST00000261609.7	-	9	1094	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S329F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTGGGCGGAACGCTCATT	0.542																																																	1	Substitution - Missense(1)	cervix(1)											67	53	58					15																	28517458		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.986C>T	15.37:g.28517458G>A	ENSP00000261609:p.Ser329Phe			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S329F	ENST00000261609.7	37	c.986	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616055	0.87359	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.40543	1.245	0.80722	D	1	P	0.44578	0.838	P	0.47470	0.548	T	0.34675	-0.9819	10	0.46703	T	0.11	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	329	O95714	HERC2_HUMAN	F	329	ENSP00000261609:S329F	ENSP00000261609:S329F	S	-	2	0	HERC2	26191053	1.000000	0.71417	0.460000	0.27093	0.980000	0.70556	9.794000	0.99096	2.641000	0.89580	0.650000	0.86243	TCC	HERC2	-	NULL		0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28517458	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	0.997	A	A	28517458	G	A	28517458	3	1	126	1	0	0	0	0	1	0	0	0	7078	1174	41	1	13858	1	HERC2	15	28517458	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	1499578	28517458	74013934	76	19584										
CHRNA3	1136	genome.wustl.edu	37	chr15	78894271	78894271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgtagaacaagggcaggcgcCggatgtacagcgagtatgtg	16	7	0	1	rs149559299	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:78894271C>T	ENST00000326828.5	-	5	1097	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	CHRNA3_ENST00000348639.3_Missense_Mutation_p.R238Q	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	238					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.R238Q(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GGGCAGGCGCCGGATGTACAG	0.567																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG,GLN/ARG	0,4392		0,0,2196	212	174	187		713,713	5.9	1	15	dbSNP_134	187	2,8584	2.2+/-6.3	0,2,4291	no	missense,missense	CHRNA3	NM_000743.4,NM_001166694.1	43,43	0,2,6487	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	238/506,238/490	78894271	2,12976	2196	4293	6489	SO:0001583	missense	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.713G>A	15.37:g.78894271C>T	ENSP00000315602:p.Arg238Gln		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R238Q	ENST00000326828.5	37	c.713	CCDS10305.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.252014	0.95336	0.0	2.33E-4	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.79033	-1.23;-1.23	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87935	0.2713	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	238;238	P32297;P32297-3	ACHA3_HUMAN;.	Q	238;238;102	ENSP00000267951:R238Q;ENSP00000315602:R238Q	ENSP00000315602:R238Q	R	-	2	0	CHRNA3	76681326	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.064000	0.71169	2.793000	0.96121	0.655000	0.94253	CGG	CHRNA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.567	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	HGNC	protein_coding	OTTHUMT00000290111.3	C			78894271	-1	no_errors	ENST00000326828	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78894271	C	T	78894271	3	4	126	1	0	0	0	0	1	0	0	0	3389	652	23	2	897	2	CHRNA3	15	78894271	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	50376813	78894271	23637121	77	19585										
HOMER2	9455	genome.wustl.edu	37	chr15	83533003	83533003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tctttcacctcctggaatttCtctgcaaactgaacatgaag	6	11	3	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:83533003C>G	ENST00000304231.8	-	4	495	c.303G>C	c.(301-303)gaG>gaC	p.E101D	HOMER2_ENST00000426485.1_Missense_Mutation_p.E101D|HOMER2_ENST00000450735.2_Missense_Mutation_p.E101D|HOMER2_ENST00000399166.2_Missense_Mutation_p.E101D	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	101	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E101D(1)|p.E164D(1)		cervix(1)|endometrium(2)|lung(6)	9						CCTGGAATTTCTCTGCAAACT	0.383																																																	2	Substitution - Missense(2)	cervix(2)											112	104	107					15																	83533003		1850	4099	5949	SO:0001583	missense	9455			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.303G>C	15.37:g.83533003C>G	ENSP00000305632:p.Glu101Asp		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.E101D	ENST00000304231.8	37	c.303	CCDS45334.1	15	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359442	0.41801	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.47	3.6	0.41247	EVH1 (3);Pleckstrin homology-type (1);	0.049351	0.85682	D	0.000000	D	0.95172	0.8435	L	0.28192	0.835	0.44927	D	0.997942	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	D	0.90725	0.4638	10	0.41790	T	0.15	.	6.9951	0.24779	0.0:0.7064:0.1418:0.1518	.	101;101;101;101	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	D	101	ENSP00000305632:E101D;ENSP00000407634:E101D;ENSP00000394293:E101D;ENSP00000382119:E101D	ENSP00000305632:E101D	E	-	3	2	HOMER2	81330057	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.968000	0.40500	0.692000	0.31613	-0.136000	0.14681	GAG	HOMER2	-	pfam_EVH1,smart_EVH1,pfscan_EVH1		0.383	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOMER2	HGNC	protein_coding	OTTHUMT00000418689.1	C			83533003	-1	no_errors	ENST00000304231	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83533003	C	G	83533003	3	3	126	1	0	0	0	0	1	0	0	0	7299	912	32	1	785	1	HOMER2	15	83533003	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	4638732	83533003	18998389	78	19586										
CREBBP	1387	genome.wustl.edu	37	chr16	3900914	3900914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tatgtttggaagcagcatctGgaacaaggttcccactgttt	10	8	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:3900914G>A	ENST00000262367.5	-	2	991	c.182C>T	c.(181-183)cCa>cTa	p.P61L	CREBBP_ENST00000382070.3_Missense_Mutation_p.P61L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	61					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P61L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCAGCATCTGGAACAAGGTT	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)											81	77	78					16																	3900914		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.182C>T	16.37:g.3900914G>A	ENSP00000262367:p.Pro61Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P61L	ENST00000262367.5	37	c.182	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265044	0.59431	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84873	-1.91;-1.85	5.85	5.85	0.93711	.	0.074165	0.56097	D	0.000021	D	0.87649	0.6230	L	0.42245	1.32	0.80722	D	1	P;D	0.89917	0.78;1.0	P;D	0.71870	0.602;0.975	T	0.82579	-0.0387	10	0.10377	T	0.69	-6.2037	14.9464	0.71035	0.0:0.0:0.8571:0.1429	.	129;61	Q4LE28;Q92793	.;CBP_HUMAN	L	61;129;61	ENSP00000262367:P61L;ENSP00000371502:P61L	ENSP00000262367:P61L	P	-	2	0	CREBBP	3840915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.970000	0.63742	2.765000	0.95021	0.637000	0.83480	CCA	CREBBP	-	NULL		0.468	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900914	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3900914	G	A	3900914	3	1	126	1	0	0	0	0	1	0	0	0	3866	1348	47	4	7266	4	CREBBP	16	3900914	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		3900914	86453839	79	19587										
ZFHX3	463	genome.wustl.edu	37	chr16	72828798	72828798	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggctgagcttgctggaatctGaggtatggccccagagagca	15	9	1	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:72828798G>A	ENST00000268489.5	-	9	8455	c.7783C>T	c.(7783-7785)Cag>Tag	p.Q2595*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q1681*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2595					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2595*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGAATCTGAGGTATGGCC	0.552																																																	1	Substitution - Nonsense(1)	cervix(1)											100	102	101					16																	72828798		2198	4300	6498	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7783C>T	16.37:g.72828798G>A	ENSP00000268489:p.Gln2595*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q2595*	ENST00000268489.5	37	c.7783	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	51	17.338961	0.99884	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.64	5.64	0.86602	.	0.000000	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.683	0.95971	0.0:0.0:1.0:0.0	.	.	.	.	X	2595;1681	.	ENSP00000268489:Q2595X	Q	-	1	0	ZFHX3	71386299	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.876000	0.87215	2.653000	0.90120	0.561000	0.74099	CAG	ZFHX3	-	NULL		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72828798	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	72828798	G	A	72828798	4	1	126	1	0	0	0	0	0	1	0	0	17664	1299	45	1	3336	1	ZFHX3	16	72828798	Nonsense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	68927884	72828798	17525955	80	19588										
FOXC2	2303	genome.wustl.edu	37	chr16	86602295	86602295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aaactttccccaacgtgcggGagatgttcaactcccaccgg	9	14	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:86602295G>A	ENST00000320354.4	+	1	1439	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	452					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E452K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAACGTGCGGGAGATGTTCAA	0.652									Late-onset Hereditary Lymphedema																																								1	Substitution - Missense(1)	cervix(1)											34	34	34					16																	86602295		2193	4285	6478	SO:0001583	missense	2303	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1354G>A	16.37:g.86602295G>A	ENSP00000326371:p.Glu452Lys		C6KMR9|Q14DA6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E452K	ENST00000320354.4	37	c.1354	CCDS10958.1	16	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450053	0.84101	.	.	ENSG00000176692	ENST00000320354	D	0.82344	-1.6	4.35	4.35	0.52113	.	2.127530	0.02239	U	0.065626	D	0.89763	0.6809	L	0.39898	1.24	0.54753	D	0.999989	D	0.63880	0.993	D	0.72625	0.978	T	0.77955	-0.2393	10	0.87932	D	0	.	15.5954	0.76574	0.0:0.0:1.0:0.0	.	452	Q99958	FOXC2_HUMAN	K	452	ENSP00000326371:E452K	ENSP00000326371:E452K	E	+	1	0	FOXC2	85159796	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.755000	0.74914	2.223000	0.72356	0.462000	0.41574	GAG	FOXC2	-	NULL		0.652	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC2	HGNC	protein_coding	OTTHUMT00000269104.2	G	NM_005251		86602295	1	no_errors	ENST00000320354	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86602295	G	A	86602295	3	1	126	1	0	0	0	0	1	0	0	0	6013	1175	41	1	1356	1	FOXC2	16	86602295	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	13773497	86602295	3752458	81	19589										
P2RX1	5023	genome.wustl.edu	37	chr17	3806871	3806871	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	accttgaagcgtggaaagctGatgctgttcttgatgaaaag	12	6	1	4			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:3806871G>A	ENST00000225538.3	-	6	853	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.I193I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GTGGAAAGCTGATGCTGTTCT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											84	84	84					17																	3806871		2203	4300	6503	SO:0001819	synonymous_variant	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.579C>T	17.37:g.3806871G>A			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.I193	ENST00000225538.3	37	c.579	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.617	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	G	NM_002558		3806871	-1	no_errors	ENST00000225538	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3806871	G	A	3806871	2	1	126	1	0	0	0	0	0	0	0	1	11363	1280	45	1		1	P2RX1	17	3806871	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		3806871	77388339	82	19590										
SCO1	6341	genome.wustl.edu	37	chr17	10600752	10600752	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gccccaaaactcgagtccgcGaggcaagaagcgccaaagtt	11	13	0	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:10600752G>C	ENST00000255390.5	-	1	133	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G	ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000582053.1_Intron|SCO1_ENST00000577427.1_Missense_Mutation_p.R25G	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	25					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)	p.R25G(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCGAGTCCGCGAGGCAAGAAG	0.667																																					Melanoma(128;591 1731 19711 31891 44645)												2	Substitution - Missense(2)	cervix(1)|lung(1)											17	17	17					17																	10600752		2202	4297	6499	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.73C>G	17.37:g.10600752G>C	ENSP00000255390:p.Arg25Gly		B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.R25G	ENST00000255390.5	37	c.73	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519164	0.44866	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.85088	-1.94	4.42	0.0608	0.14337	.	0.699705	0.14305	N	0.328024	T	0.67961	0.2949	L	0.29908	0.895	0.09310	N	1	P;B	0.38827	0.649;0.291	B;B	0.29524	0.103;0.07	T	0.58945	-0.7546	10	0.42905	T	0.14	0.0127	3.2813	0.06916	0.1991:0.0:0.4367:0.3641	.	25;25	A8MY34;O75880	.;SCO1_HUMAN	G	25	ENSP00000255390:R25G	ENSP00000255390:R25G	R	-	1	0	SCO1	10541477	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.014000	0.12656	0.065000	0.16485	0.655000	0.94253	CGC	SCO1	-	pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.667	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	HGNC	protein_coding	OTTHUMT00000252729.2	G	NM_004589		10600752	-1	no_errors	ENST00000255390	ensembl	human	known	70_37	missense	SNP	0.001	C	C	10600752	G	C	10600752	3	2	126	1	0	0	0	0	1	0	0	0	13961	1058	37	1	856	1	SCO1	17	10600752	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	6793881	10600752	70594458	83	19591										
NCOR1	9611	genome.wustl.edu	37	chr17	16001722	16001722	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tcgatgctgaagctgtggcaGatccagtggatttggtttta	13	6	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:16001722G>A	ENST00000268712.3	-	21	3036	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	NCOR1_ENST00000395848.1_Silent_p.L834L|RNU6-314P_ENST00000516574.1_RNA|NCOR1_ENST00000395851.1_Silent_p.L943L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	927					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L927L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTGTGGCAGATCCAGTGGA	0.403																																																	1	Substitution - coding silent(1)	cervix(1)											84	83	83					17																	16001722		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2779C>T	17.37:g.16001722G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L927	ENST00000268712.3	37	c.2779	CCDS11175.1	17																																																																																			NCOR1	-	NULL		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	G	NM_006311		16001722	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	silent	SNP	0.980	A	A	16001722	G	A	16001722	2	1	126	1	0	0	0	0	0	0	0	1	10259	933	33	1		1	NCOR1	17	16001722	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	5400970	16001722	65193488	84	19592										
PEX12	5193	genome.wustl.edu	37	chr17	33904559	33904559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tagcagagtaaagatttcatCaaaccacctccacaagaagc	6	11	2	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:33904559C>G	ENST00000225873.4	-	2	785	c.178G>C	c.(178-180)Gat>Cat	p.D60H	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	60					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.D60H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGATTTCATCAAACCACCTC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											106	118	114					17																	33904559		2200	4293	6493	SO:0001583	missense	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.178G>C	17.37:g.33904559C>G	ENSP00000225873:p.Asp60His		B2R6M2	Missense_Mutation	SNP	pfam_Pex_N,pirsf_PEX12	p.D60H	ENST00000225873.4	37	c.178	CCDS11296.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715088	0.89112	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.85013	-1.93	5.63	5.63	0.86233	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93741	0.7050	10	0.66056	D	0.02	-17.6134	18.6723	0.91516	0.0:1.0:0.0:0.0	.	60	O00623	PEX12_HUMAN	H	60	ENSP00000225873:D60H	ENSP00000225873:D60H	D	-	1	0	PEX12	30928672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.080000	0.76837	2.651000	0.90000	0.650000	0.86243	GAT	PEX12	-	pfam_Pex_N,pirsf_PEX12		0.378	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX12	HGNC	protein_coding	OTTHUMT00000256489.2	C	NM_000286		33904559	-1	no_errors	ENST00000225873	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33904559	C	G	33904559	3	3	126	1	0	0	0	0	1	0	0	0	11764	826	29	1	909	1	PEX12	17	33904559	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	17902837	33904559	47290651	85	19593										
TMEM99	147184	genome.wustl.edu	37	chr17	38990881	38990881	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ttctgttagagttcctcattCagctggtcactgtggccaga	10	10	4	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:38990881C>T	ENST00000301665.3	+	3	417	c.113C>T	c.(112-114)tCa>tTa	p.S38L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	38						integral component of membrane (GO:0016021)		p.S38L(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GTTCCTCATTCAGCTGGTCAC	0.522																																																	1	Substitution - Missense(1)	cervix(1)											122	118	119					17																	38990881		2041	4190	6231	SO:0001583	missense	147184			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.113C>T	17.37:g.38990881C>T	ENSP00000301665:p.Ser38Leu		B4DQ34|Q96BP9	Missense_Mutation	SNP	NULL	p.S38L	ENST00000301665.3	37	c.113	CCDS42319.1	17	.	.	.	.	.	.	.	.	.	.	C	7.787	0.710690	0.15239	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.225	0.225	0.15325	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.09310	N	1	P	0.37500	0.597	P	0.46110	0.504	T	0.26780	-1.0093	8	0.87932	D	0	.	.	.	.	.	38	Q8N816	TMM99_HUMAN	L	38	ENSP00000390036:S38L;ENSP00000301665:S38L	ENSP00000301665:S38L	S	+	2	0	TMEM99	36244407	0.024000	0.19004	0.171000	0.22900	0.173000	0.22820	0.281000	0.18810	0.300000	0.22699	0.305000	0.20034	TCA	TMEM99	-	NULL		0.522	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM99	HGNC	protein_coding	OTTHUMT00000257681.1	C	NM_145274		38990881	1	no_errors	ENST00000301665	ensembl	human	known	70_37	missense	SNP	0.198	T	T	38990881	C	T	38990881	3	4	126	1	0	0	0	0	1	0	0	0	16256	838	29	1	115	1	TMEM99	17	38990881	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	5086322	38990881	42204329	86	19594										
EPX	8288	genome.wustl.edu	37	chr17	56276426	56276426	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acccgatcaacggaaaccccCaaactggcagccatgcacac	7	17	1	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:56276426C>A	ENST00000225371.5	+	8	1256	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	382					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CGGAAACCCCCAAACTGGCAG	0.547																																																	0													76	66	69					17																	56276426		2203	4300	6503	SO:0001819	synonymous_variant	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1146C>A	17.37:g.56276426C>A			Q4TVP3	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P382	ENST00000225371.5	37	c.1146	CCDS11602.1	17																																																																																			EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.547	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	C	NM_000502		56276426	1	no_errors	ENST00000225371	ensembl	human	known	70_37	silent	SNP	0.848	A	A	56276426	C	A	56276426	2	1	126	1	0	0	0	0	0	0	0	1	5212	581	21	4		4	EPX	17	56276426	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	17285545	56276426	24918784	87	19595										
PTPRM	5797	genome.wustl.edu	37	chr18	8252485	8252485	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgatatgtatcttcttaaaaGtgccaataaatggtaagttc	7	5	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:8252485G>T	ENST00000332175.8	+	17	3564				PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400060.4_Intron	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTCTTAAAAGTGCCAATAAA	0.418																																																	0													154	151	152					18																	8252485		1905	4129	6034	SO:0001627	intron_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2528-740G>T	18.37:g.8252485G>T			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	-	e18-1	ENST00000332175.8	37	c.2555-1	CCDS11840.1	18																																																																																			PTPRM	-	-		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8252485	1	no_errors	ENST00000580170	ensembl	human	novel	70_37	splice_site	SNP	1.000	T	T	8252485	G	T	8252485	1	4	126	0	1	0	0	0	0	0	0	0	12836	1043	36	4		4	PTPRM	18	8252485	Intron	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		8252485	69824763	88	19596										
C18orf1	753	genome.wustl.edu	37	chr18	13612736	13612736	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cacctgaacaacagcacactGaaggaggctcagttcaaaga	9	11	2	3	rs35814252		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:13612736G>A	ENST00000359446.5	+	4	649				LDLRAD4_ENST00000585931.1_Intron|LDLRAD4_ENST00000361205.4_Intron|MIR4526_ENST00000583168.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.L11L|LDLRAD4_ENST00000590308.1_3'UTR|LDLRAD4_ENST00000399848.3_Intron|LDLRAD4_ENST00000587757.1_Silent_p.L11L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.L11L(1)									ACAGCACACTGAAGGAGGCTC	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											121	96	105					18																	13612736		2203	4300	6503	SO:0001627	intron_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.182-8380G>A	18.37:g.13612736G>A			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	NULL	p.L11	ENST00000359446.5	37	c.33	CCDS32793.1	18																																																																																			LDLRAD4	-	NULL		0.488	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13612736	1	no_errors	ENST00000587757	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13612736	G	A	13612736	1	1	126	0	1	0	0	0	0	0	0	0	1899	1277	45	1		1	C18orf1	18	13612736	Intron	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	5360251	13612736	64464512	89	19597										
TCEB3B	51224	genome.wustl.edu	37	chr18	44561020	44561020	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctggcagcctggacacagcaGaggcccgccctgagccgcgt	14	16	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:44561020G>A	ENST00000332567.4	-	1	968	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	206					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L206L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGACACAGCAGAGGCCCGCCC	0.682																																																	1	Substitution - coding silent(1)	cervix(1)											25	27	27					18																	44561020		2203	4298	6501	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.616C>T	18.37:g.44561020G>A			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.L206	ENST00000332567.4	37	c.616	CCDS11932.1	18																																																																																			TCEB3B	-	NULL		0.682	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	G	NM_016427		44561020	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44561020	G	A	44561020	2	1	126	1	0	0	0	0	0	0	0	1	15712	933	33	1		1	TCEB3B	18	44561020	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	30948284	44561020	33516228	90	19598										
PIGN	23556	genome.wustl.edu	37	chr18	59739947	59739947	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctgccataatccttgaccaaGaagaaaaaatgctgtaaaaa	6	8	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:59739947G>C	ENST00000357637.5	-	30	3046	c.2631C>G	c.(2629-2631)ttC>ttG	p.F877L	PIGN_ENST00000400334.3_Missense_Mutation_p.F877L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	877					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.F877L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CCTTGACCAAGAAGAAAAAAT	0.313																																																	1	Substitution - Missense(1)	cervix(1)											29	30	30					18																	59739947		1799	4066	5865	SO:0001583	missense	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2631C>G	18.37:g.59739947G>C	ENSP00000350263:p.Phe877Leu		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.F877L	ENST00000357637.5	37	c.2631	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871485	0.72065	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.62639	0.01;0.01	5.88	3.1	0.35709	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.054903	0.64402	D	0.000001	T	0.77565	0.4149	M	0.87900	2.915	0.54753	D	0.999987	D;P	0.64830	0.994;0.909	D;D	0.66979	0.948;0.917	T	0.76974	-0.2760	10	0.40728	T	0.16	-12.1811	9.9012	0.41348	0.2856:0.0:0.7144:0.0	.	877;877	B2RCI8;O95427	.;PIGN_HUMAN	L	877	ENSP00000350263:F877L;ENSP00000383188:F877L	ENSP00000350263:F877L	F	-	3	2	PIGN	57890927	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.339000	0.43965	0.813000	0.34350	0.585000	0.79938	TTC	PIGN	-	pfam_GPI_EtnP_transferase_1_C		0.313	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	G	NM_176787		59739947	-1	no_errors	ENST00000357637	ensembl	human	known	70_37	missense	SNP	0.996	C	C	59739947	G	C	59739947	3	2	126	1	0	0	0	0	1	0	0	0	11917	933	33	1	172	1	PIGN	18	59739947	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	15178927	59739947	18337301	91	19599										
CDH7	1005	genome.wustl.edu	37	chr18	63481756	63481756	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	aagtgacagcgacggatgctGatgatcctacatatggcaac	11	9	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:63481756G>A	ENST00000397968.2	+	4	967	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CDH7_ENST00000323011.3_Missense_Mutation_p.D181N|CDH7_ENST00000536984.2_Missense_Mutation_p.D181N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D181N(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GACGGATGCTGATGATCCTAC	0.433																																																	2	Substitution - Missense(2)	cervix(2)											190	173	179					18																	63481756		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.541G>A	18.37:g.63481756G>A	ENSP00000381058:p.Asp181Asn		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D181N	ENST00000397968.2	37	c.541	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.363073	0.95877	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.74002	-0.8;-0.8;-0.8	5.45	5.45	0.79879	Cadherin (5);Cadherin-like (1);	0.271361	0.35772	N	0.002991	D	0.90007	0.6880	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91857	0.5496	10	0.87932	D	0	.	19.6512	0.95812	0.0:0.0:1.0:0.0	.	181;181	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	181	ENSP00000319166:D181N;ENSP00000443030:D181N;ENSP00000381058:D181N	ENSP00000319166:D181N	D	+	1	0	CDH7	61632736	1.000000	0.71417	0.870000	0.34147	0.833000	0.47200	9.269000	0.95684	2.712000	0.92718	0.591000	0.81541	GAT	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63481756	1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63481756	G	A	63481756	3	1	126	1	0	0	0	0	1	0	0	0	3120	1290	45	1	551	1	CDH7	18	63481756	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	3741809	63481756	14595492	92	19600										
C19orf6	91304	genome.wustl.edu	37	chr19	1013310	1013310	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tctgtgctactcggcggcttGaacaccttgggctcgatgtc	12	12	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:1013310G>C	ENST00000356663.3	-	3	658	c.537C>G	c.(535-537)ttC>ttG	p.F179L	TMEM259_ENST00000333175.5_Missense_Mutation_p.F179L	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	179						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F179L(1)									TCGGCGGCTTGAACACCTTGG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											124	102	110					19																	1013310		2202	4300	6502	SO:0001583	missense	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.537C>G	19.37:g.1013310G>C	ENSP00000349087:p.Phe179Leu		O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	pfam_Membralin	p.F179L	ENST00000356663.3	37	c.537	CCDS32862.1	19	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343350	0.24339	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.1	1.93	0.25924	.	0.270298	0.36972	N	0.002316	T	0.34687	0.0906	L	0.32530	0.975	0.34141	D	0.666444	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31833	-0.9929	9	0.16420	T	0.52	.	7.8058	0.29202	0.0932:0.176:0.7308:0.0	.	179;179	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	L	179	.	ENSP00000331423:F179L	F	-	3	2	C19orf6	964310	1.000000	0.71417	0.991000	0.47740	0.780000	0.44128	1.333000	0.33816	0.377000	0.24735	0.561000	0.74099	TTC	C19orf6	-	pfam_Membralin		0.637	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf6	HGNC	protein_coding	OTTHUMT00000458236.1	G	NM_033420		1013310	-1	no_errors	ENST00000356663	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1013310	G	C	1013310	3	2	126	1	0	0	0	0	1	0	0	0	1946	1281	45	1	1361	1	C19orf6	19	1013310	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		1013310	58115673	93	19601										
DPP9	91039	genome.wustl.edu	37	chr19	4702154	4702155	+	Missense_Mutation	DNP	GA	GA	CT													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tacaggattcgcagcgtcttGaggccctctgaaccttgggt							TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:4702154_4702155GA>CT	ENST00000598800.1	-	10	1314_1315	c.809_810TC>AG	c.(808-810)cTC>cAG	p.L270Q	DPP9_ENST00000262960.9_Missense_Mutation_p.L299Q|DPP9_ENST00000597849.1_Missense_Mutation_p.L299Q|DPP9_ENST00000594671.1_Missense_Mutation_p.L270Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	270						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.L378H(1)|p.L378L(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCAGCGTCTTGAGGCCCTCTGA	0.614																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)																																								SO:0001583	missense	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.809_810delinsCT	19.37:g.4702154_4702155delinsCT	ENSP00000469603:p.Leu270Gln		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent|Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.L299|p.L299H	ENST00000598800.1	37	c.897|c.896		19																																																																																			DPP9	-	pfam_Peptidase_S9B		0.614	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	G|A			4702154|4702155	-1	no_errors	ENST00000262960	ensembl	human	known	70_37	silent|missense	SNP	0.003|0.000	C|T	CT	4702155	GA	CT	4702154	3	2	126	1	0	0	0	0	1	0	0	0	4743	1277	45	1	1837	1	DPP9	19	4702154	Missense_Mutation	DNP	GA	TCGA-FU-A23K-01A-11D-A16O-08	3688844	4702154	54426829	94	19602										
KIAA1543	57662	genome.wustl.edu	37	chr19	7676636	7676636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctggacagcgacgtggatgtCgtcatgggagaccctgtgct	15	10	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:7676636C>T	ENST00000160298.4	+	11	1358	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	CAMSAP3_ENST00000446248.2_Silent_p.V446V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	419					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.V446V(2)|p.V419V(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACGTGGATGTCGTCATGGGAG	0.726																																																	3	Substitution - coding silent(3)	cervix(3)											15	18	17					19																	7676636		2037	4163	6200	SO:0001819	synonymous_variant	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1257C>T	19.37:g.7676636C>T			Q8NDF1	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.V446	ENST00000160298.4	37	c.1338	CCDS42489.1	19																																																																																			CAMSAP3	-	NULL		0.726	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	C	XM_048362		7676636	1	no_errors	ENST00000446248	ensembl	human	known	70_37	silent	SNP	0.993	T	T	7676636	C	T	7676636	2	4	126	1	0	0	0	0	0	0	0	1	8263	871	31	1		1	KIAA1543	19	7676636	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	2974482	7676636	51452347	95	19603										
MAST1	22983	genome.wustl.edu	37	chr19	12981737	12981737	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgcatggcatggtgcatcctGaggtcgtggagctgatcctt	14	9	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:12981737G>C	ENST00000251472.4	+	23	3142	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.E1035Q(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGTGCATCCTGAGGTCGTGGA	0.637																																																	2	Substitution - Missense(2)	cervix(2)											95	87	90					19																	12981737		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3103G>C	19.37:g.12981737G>C	ENSP00000251472:p.Glu1035Gln			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E1035Q	ENST00000251472.4	37	c.3103	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509613	0.64522	.	.	ENSG00000105613	ENST00000251472	T	0.48836	0.8	4.39	4.39	0.52855	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.05177	-0.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.36504	-0.9745	10	0.12766	T	0.61	-28.327	14.8064	0.69959	0.0:0.0:1.0:0.0	.	1035	Q9Y2H9	MAST1_HUMAN	Q	1035	ENSP00000251472:E1035Q	ENSP00000251472:E1035Q	E	+	1	0	MAST1	12842737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.790000	0.99075	2.149000	0.67028	0.462000	0.41574	GAG	MAST1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.637	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12981737	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12981737	G	C	12981737	3	2	126	1	0	0	0	0	1	0	0	0	9347	1291	45	1	3193	1	MAST1	19	12981737	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	5305101	12981737	46147246	96	19604										
MAST1	22983	genome.wustl.edu	37	chr19	12981865	12981865	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cccagagtggcaacaaggtaGcagtgaccacaacgcccttc	10	14	0	2	rs35052801	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:12981865G>C	ENST00000251472.4	+	24	3181	c.3142G>C	c.(3142-3144)Gca>Cca	p.A1048P	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A1048P(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAACAAGGTAGCAGTGACCAC	0.602																																																	2	Substitution - Missense(2)	cervix(2)											98	98	98					19																	12981865		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3142G>C	19.37:g.12981865G>C	ENSP00000251472:p.Ala1048Pro			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A1048P	ENST00000251472.4	37	c.3142	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716474	0.68844	.	.	ENSG00000105613	ENST00000251472	T	0.27557	1.66	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.059016	0.64402	D	0.000002	T	0.29620	0.0739	N	0.08118	0	0.36330	D	0.858799	P	0.41624	0.757	P	0.56216	0.794	T	0.43360	-0.9396	10	0.72032	D	0.01	-19.232	10.6776	0.45796	0.0:0.0:0.8088:0.1912	.	1048	Q9Y2H9	MAST1_HUMAN	P	1048	ENSP00000251472:A1048P	ENSP00000251472:A1048P	A	+	1	0	MAST1	12842865	0.004000	0.15560	0.829000	0.32907	0.973000	0.67179	0.312000	0.19397	2.227000	0.72691	0.462000	0.41574	GCA	MAST1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.602	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12981865	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.805	C	C	12981865	G	C	12981865	3	2	126	1	0	0	0	0	1	0	0	0	9347	971	34	4	3236	4	MAST1	19	12981865	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	128	12981865	46147118	97	19605										
OR7A17	26333	genome.wustl.edu	37	chr19	14991727	14991727	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	agggcagcaatcatccaggaTgccagaaccaggagtccaca	11	12	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:14991727T>A	ENST00000327462.2	-	1	537	c.441A>T	c.(439-441)gcA>gcT	p.A147A		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A147A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCATCCAGGATGCCAGAACCA	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											112	107	109					19																	14991727		2203	4300	6503	SO:0001819	synonymous_variant	26333			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.441A>T	19.37:g.14991727T>A			Q6IFQ6|Q96R98	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A147	ENST00000327462.2	37	c.441	CCDS12319.1	19																																																																																			OR7A17	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	T	NM_030901		14991727	-1	no_errors	ENST00000327462	ensembl	human	known	70_37	silent	SNP	0.002	A	A	14991727	T	A	14991727	2	1	126	1	0	0	0	0	0	0	0	1	11239	1451	51	5		5	OR7A17	19	14991727	Silent	SNP	T	TCGA-FU-A23K-01A-11D-A16O-08	2009862	14991727	44137256	98	19606										
UPF1	5976	genome.wustl.edu	37	chr19	18967005	18967005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gtgcttccagcatgcctgagCtgcagaagctgcagcagctg	13	12	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:18967005C>T	ENST00000599848.1	+	13	1962	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	UPF1_ENST00000262803.5_Silent_p.L574L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	585					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L574L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATGCCTGAGCTGCAGAAGCT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											49	48	49					19																	18967005		2203	4300	6503	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1753C>T	19.37:g.18967005C>T			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.L585	ENST00000599848.1	37	c.1753		19																																																																																			UPF1	-	pfam_Helicase/UvrB_dom		0.607	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	C	NM_002911		18967005	1	no_errors	ENST00000599848	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18967005	C	T	18967005	2	4	126	1	0	0	0	0	0	0	0	1	17034	796	28	4		4	UPF1	19	18967005	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	3975278	18967005	40161978	99	19607										
CAPN12	147968	genome.wustl.edu	37	chr19	39234770	39234770	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	accccagcctcctcatccacGagctggatggtgaccctccc	8	19	1	1	rs559303590		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:39234770G>A	ENST00000328867.4	-	1	344	c.36C>T	c.(34-36)ctC>ctT	p.L12L	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	12					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.L12L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTCATCCACGAGCTGGATGG	0.652													g|||	1	0.000199681	0	0	5008	,	,		14200	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											50	53	52					19																	39234770		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.36C>T	19.37:g.39234770G>A				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L12	ENST00000328867.4	37	c.36	CCDS12519.1	19																																																																																			CAPN12	-	NULL		0.652	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	G			39234770	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39234770	G	A	39234770	2	1	126	1	0	0	0	0	0	0	0	1	2630	1045	37	1		1	CAPN12	19	39234770	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	20267765	39234770	19894213	100	19608										
IRF2BP1	26145	genome.wustl.edu	37	chr19	46388968	46388968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgaagtcccacaccatggccCacggcatcttgggcaggtcg	12	14	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:46388968C>G	ENST00000302165.3	-	1	408	c.65G>C	c.(64-66)tGg>tCg	p.W22S		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.W22S(1)		cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CACCATGGCCCACGGCATCTT	0.706																																																	1	Substitution - Missense(1)	cervix(1)											19	18	18					19																	46388968		2178	4266	6444	SO:0001583	missense	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.65G>C	19.37:g.46388968C>G	ENSP00000307265:p.Trp22Ser		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.W22S	ENST00000302165.3	37	c.65	CCDS12678.1	19	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937021	0.73557	.	.	ENSG00000170604	ENST00000302165	T	0.67345	-0.26	3.6	3.6	0.41247	Interferon regulatory factor 2-binding protein 1 &amp (1); 2, zinc finger (1);	0.000000	0.64402	U	0.000011	T	0.79370	0.4434	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82240	-0.0555	10	0.87932	D	0	.	13.1224	0.59334	0.0:1.0:0.0:0.0	.	22	Q8IU81	I2BP1_HUMAN	S	22	ENSP00000307265:W22S	ENSP00000307265:W22S	W	-	2	0	IRF2BP1	51080808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.060000	0.64312	2.005000	0.58758	0.462000	0.41574	TGG	IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.706	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	C	NM_015649		46388968	-1	no_errors	ENST00000302165	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46388968	C	G	46388968	3	3	126	1	0	0	0	0	1	0	0	0	7849	595	21	4	1693	4	IRF2BP1	19	46388968	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	7154198	46388968	12740015	101	19609										
CRX	1406	genome.wustl.edu	37	chr19	48342779	48342779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tctgcccggcccctcaggctCcccaaccacggcagtggcca	10	20	2	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:48342779C>T	ENST00000221996.7	+	4	661	c.455C>T	c.(454-456)tCc>tTc	p.S152F	CRX_ENST00000539067.1_Missense_Mutation_p.S152F|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	152					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S152F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCTCAGGCTCCCCAACCACG	0.667																																					Pancreas(57;461 1196 22201 40716 47188)												1	Substitution - Missense(1)	cervix(1)	GRCh37	CM083614	CRX	M							39	42	41					19																	48342779		2202	4297	6499	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.455C>T	19.37:g.48342779C>T	ENSP00000221996:p.Ser152Phe		Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S152F	ENST00000221996.7	37	c.455	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215953	0.58452	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91068	-2.78;-2.78	3.93	3.93	0.45458	.	0.191628	0.43579	D	0.000545	D	0.86222	0.5881	L	0.55481	1.735	0.28961	N	0.889818	P	0.45902	0.868	B	0.36534	0.227	T	0.83177	-0.0091	10	0.41790	T	0.15	-17.2824	13.5154	0.61537	0.0:1.0:0.0:0.0	.	152	O43186	CRX_HUMAN	F	152	ENSP00000221996:S152F;ENSP00000445565:S152F	ENSP00000221996:S152F	S	+	2	0	CRX	53034591	0.449000	0.25689	0.338000	0.25549	0.846000	0.48090	5.324000	0.65863	2.024000	0.59613	0.467000	0.42956	TCC	CRX	-	NULL		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	C	NM_000554		48342779	1	no_errors	ENST00000221996	ensembl	human	known	70_37	missense	SNP	0.857	T	T	48342779	C	T	48342779	3	4	126	1	0	0	0	0	1	0	0	0	3907	855	30	1	465	1	CRX	19	48342779	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	1953811	48342779	10786204	102	19610										
ZSCAN22	342945	genome.wustl.edu	37	chr19	58846567	58846567	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctgactcaggtgctggacaaGagaggtaaaggggcgccgtg	17	8	1	2	rs377682416		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:58846567G>C	ENST00000329665.4	+	2	546	c.399G>C	c.(397-399)aaG>aaC	p.K133N		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K133N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGCTGGACAAGAGAGGTAAAG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											26	24	25					19																	58846567		2195	4293	6488	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.399G>C	19.37:g.58846567G>C	ENSP00000332433:p.Lys133Asn		Q15922|Q7Z3L8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K133N	ENST00000329665.4	37	c.399	CCDS12975.1	19	.	.	.	.	.	.	.	.	.	.	G	7.023	0.559165	0.13436	.	.	ENSG00000182318	ENST00000329665	T	0.05855	3.38	4.34	3.29	0.37713	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.07908	0.0198	L	0.45137	1.4	0.26116	N	0.980614	P	0.37914	0.611	B	0.40444	0.329	T	0.23655	-1.0182	9	0.32370	T	0.25	.	10.2913	0.43596	0.0:0.2007:0.7993:0.0	.	133	P10073	ZSC22_HUMAN	N	133	ENSP00000332433:K133N	ENSP00000332433:K133N	K	+	3	2	ZSCAN22	63538379	0.941000	0.31946	0.546000	0.28166	0.112000	0.19704	2.041000	0.41213	1.163000	0.42636	0.655000	0.94253	AAG	ZSCAN22	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN		0.622	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	G	NM_181846		58846567	1	no_errors	ENST00000329665	ensembl	human	known	70_37	missense	SNP	0.708	C	C	58846567	G	C	58846567	3	2	126	1	0	0	0	0	1	0	0	0	18264	933	33	1	401	1	ZSCAN22	19	58846567	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	10503788	58846567	282416	103	19611										
ANGPT4	51378	genome.wustl.edu	37	chr20	865825	865825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggaggctggagttgtgcctgAcaccgcgcaggccgcgctcg	17	13	0	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:865825A>G	ENST00000381922.3	-	4	833	c.731T>C	c.(730-732)gTc>gCc	p.V244A	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V244A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	244					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V244A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTTGTGCCTGACACCGCGCAG	0.662																																					Pancreas(181;481 2077 3259 31286 49856)												1	Substitution - Missense(1)	cervix(1)											24	22	22					20																	865825		2200	4296	6496	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.731T>C	20.37:g.865825A>G	ENSP00000371347:p.Val244Ala		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V244A	ENST00000381922.3	37	c.731	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397254	0.01175	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13538	2.58;2.58	4.7	2.59	0.31030	.	0.573360	0.16193	N	0.225282	T	0.03011	0.0089	N	0.00729	-1.24	0.23862	N	0.996635	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43925	-0.9361	10	0.08381	T	0.77	.	5.9309	0.19138	0.2941:0.0:0.7059:0.0	.	244;244	B4E3J9;Q9Y264	.;ANGP4_HUMAN	A	244	ENSP00000371347:V244A;ENSP00000439605:V244A	ENSP00000371347:V244A	V	-	2	0	ANGPT4	813825	1.000000	0.71417	0.747000	0.31113	0.026000	0.11368	3.785000	0.55424	0.442000	0.26555	-0.475000	0.04921	GTC	ANGPT4	-	NULL		0.662	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	A	NM_015985		865825	-1	no_errors	ENST00000381922	ensembl	human	known	70_37	missense	SNP	0.982	G	G	865825	A	G	865825	3	3	126	1	0	0	0	0	1	0	0	0	612	275	10	5	804	5	ANGPT4	20	865825	Missense_Mutation	SNP	A	TCGA-FU-A23K-01A-11D-A16O-08		865825	62159695	104	19612										
PYGB	5834	genome.wustl.edu	37	chr20	25255328	25255328	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ctacggacgcgtggagcacaCccccgacggcgtgaagtggc	15	14	0	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:25255328C>G	ENST00000216962.4	+	5	739	c.629C>G	c.(628-630)aCc>aGc	p.T210S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	210					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.T210S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GTGGAGCACACCCCCGACGGC	0.632																																																	1	Substitution - Missense(1)	cervix(1)											94	105	101					20																	25255328		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.629C>G	20.37:g.25255328C>G	ENSP00000216962:p.Thr210Ser		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.T210S	ENST00000216962.4	37	c.629	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150099	0.21371	.	.	ENSG00000100994	ENST00000216962	D	0.92299	-3.01	4.22	1.0	0.19881	.	0.221741	0.45867	N	0.000334	D	0.85093	0.5618	N	0.26042	0.785	0.48901	D	0.999722	B	0.02656	0.0	B	0.01281	0.0	T	0.74166	-0.3753	10	0.22706	T	0.39	-27.5377	14.8613	0.70384	0.0:0.5289:0.4711:0.0	.	210	P11216	PYGB_HUMAN	S	210	ENSP00000216962:T210S	ENSP00000216962:T210S	T	+	2	0	PYGB	25203328	0.005000	0.15991	0.777000	0.31699	0.627000	0.37826	0.394000	0.20834	0.132000	0.18615	0.563000	0.77884	ACC	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.632	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	C	NM_002862		25255328	1	no_errors	ENST00000216962	ensembl	human	known	70_37	missense	SNP	0.991	G	G	25255328	C	G	25255328	3	3	126	1	0	0	0	0	1	0	0	0	12890	507	18	4	647	4	PYGB	20	25255328	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	24389503	25255328	37770192	105	19613										
SPAG4	6676	genome.wustl.edu	37	chr20	34205119	34205119	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cttctcccgaccctggatctGaggcaggagatgcctccccc	10	17	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34205119G>C	ENST00000374273.3	+	2	478	c.366G>C	c.(364-366)ctG>ctC	p.L122L	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	122					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.L122L(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCTGGATCTGAGGCAGGAGA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											27	28	27					20																	34205119		2203	4300	6503	SO:0001819	synonymous_variant	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.366G>C	20.37:g.34205119G>C			O43648	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L122	ENST00000374273.3	37	c.366	CCDS13259.1	20																																																																																			SPAG4	-	NULL		0.652	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116		34205119	1	no_errors	ENST00000374273	ensembl	human	known	70_37	silent	SNP	1.000	C	C	34205119	G	C	34205119	2	2	126	1	0	0	0	0	0	0	0	1	15010	1277	45	1		1	SPAG4	20	34205119	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	8949791	34205119	28820401	106	19614			3	92		4	4	2112	G		9.523641e-08
SPAG4	6676	genome.wustl.edu	37	chr20	34205484	34205484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	cgtgttgttatccctggcagGagacgtgctggtcagcatgt	14	9	1	1	rs375034562		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34205484G>A	ENST00000374273.3	+	3	564	c.452G>A	c.(451-453)gGa>gAa	p.G151E	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	151					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.G151E(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCCCTGGCAGGAGACGTGCTG	0.667																																																	1	Substitution - Missense(1)	cervix(1)						G	GLU/GLY	0,4406		0,0,2203	31	28	29		452	2.5	0.8	20		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPAG4	NM_003116.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	151/438	34205484	1,13005	2203	4300	6503	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.452G>A	20.37:g.34205484G>A	ENSP00000363391:p.Gly151Glu		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G151E	ENST00000374273.3	37	c.452	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171648	0.57584	0.0	1.16E-4	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.15017	2.46;2.46	4.5	2.52	0.30459	.	0.234704	0.30374	N	0.009780	T	0.17704	0.0425	M	0.65975	2.015	0.27623	N	0.948287	B;P	0.46706	0.361;0.883	B;B	0.41135	0.116;0.348	T	0.09796	-1.0658	10	0.49607	T	0.09	-14.9878	7.4919	0.27466	0.0:0.1829:0.6274:0.1897	.	26;151	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	E	151;26	ENSP00000363391:G151E;ENSP00000396670:G26E	ENSP00000363391:G151E	G	+	2	0	SPAG4	33668898	0.991000	0.36638	0.763000	0.31416	0.965000	0.64279	1.509000	0.35780	0.814000	0.34374	0.561000	0.74099	GGA	SPAG4	-	NULL		0.667	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116		34205484	1	no_errors	ENST00000374273	ensembl	human	known	70_37	missense	SNP	0.816	A	A	34205484	G	A	34205484	3	1	126	1	0	0	0	0	1	0	0	0	15010	1174	41	1	462	1	SPAG4	20	34205484	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	365	34205484	28820036	107	19615			3	92		4	4	2112	G		9.523641e-08
SPAG4	6676	genome.wustl.edu	37	chr20	34207117	34207117	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gttacttctcactgttccagGagcctccatcgacctgcaga	8	14	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34207117G>T	ENST00000374273.3	+	9	906	c.794G>T	c.(793-795)gGa>gTa	p.G265V		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	265	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.G265V(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACTGTTCCAGGAGCCTCCATC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											106	108	107					20																	34207117		2203	4300	6503	SO:0001630	splice_region_variant	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.794-1G>T	20.37:g.34207117G>T			O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G265V	ENST00000374273.3	37	c.794	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067957	0.55539	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	D;D	0.85484	-1.99;-1.9	4.63	4.63	0.57726	Sad1/UNC-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93002	0.6424	9	.	.	.	.	13.1829	0.59666	0.0:0.0:1.0:0.0	.	140;265	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	V	265;140	ENSP00000363391:G265V;ENSP00000396670:G140V	.	G	+	2	0	SPAG4	33670531	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	4.550000	0.60733	2.579000	0.87056	0.462000	0.41574	GGA	SPAG4	-	NULL		0.657	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116	Missense_Mutation	34207117	1	no_errors	ENST00000374273	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34207117	G	T	34207117	5	4	126	1	0	0	0	0	0	0	1	0	15010	1188	41	3	828	3	SPAG4	20	34207117	Splice_Site	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	1633	34207117	28818403	108	19616			3	92		4	4	2112	G		9.523641e-08
SPAG4	6676	genome.wustl.edu	37	chr20	34207230	34207230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggccgcccacggttatcctgGaggtgagtctggaaacatcc	13	12	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34207230G>C	ENST00000374273.3	+	9	1019	c.907G>C	c.(907-909)Gag>Cag	p.E303Q		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	303	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.E303Q(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGTTATCCTGGAGGTGAGTCT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											70	71	71					20																	34207230		2203	4300	6503	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.907G>C	20.37:g.34207230G>C	ENSP00000363391:p.Glu303Gln		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E303Q	ENST00000374273.3	37	c.907	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192888	0.58017	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.41065	1.01;1.01	4.87	4.87	0.63330	Sad1/UNC-like, C-terminal (2);	0.123818	0.56097	D	0.000022	T	0.44829	0.1312	N	0.22421	0.69	0.40081	D	0.976135	P;D	0.56968	0.775;0.978	P;D	0.66602	0.651;0.945	T	0.13953	-1.0490	10	0.13108	T	0.6	-7.9922	13.7084	0.62654	0.0:0.0:1.0:0.0	.	178;303	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	Q	303;178	ENSP00000363391:E303Q;ENSP00000396670:E178Q	ENSP00000363391:E303Q	E	+	1	0	SPAG4	33670644	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.913000	0.48790	2.695000	0.91970	0.462000	0.41574	GAG	SPAG4	-	pfam_Sad1_UNC_C		0.617	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116		34207230	1	no_errors	ENST00000374273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34207230	G	C	34207230	3	2	126	1	0	0	0	0	1	0	0	0	15010	1175	41	1	941	1	SPAG4	20	34207230	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	113	34207230	28818290	109	19617			3	92		4	4	2112	G		9.523641e-08
TGIF2	60436	genome.wustl.edu	37	chr20	35207246	35207246	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggcaaaaggaagcgcaggggGaacctgcccaaggagtcggt	17	9	0	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:35207246G>A	ENST00000373874.2	+	2	268	c.69G>A	c.(67-69)ggG>ggA	p.G23G	TGIF2-C20orf24_ENST00000558530.1_Silent_p.G23G|TGIF2_ENST00000373872.4_Silent_p.G23G|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	23					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G23G(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGCGCAGGGGGAACCTGCCCA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											119	107	111					20																	35207246		2203	4300	6503	SO:0001819	synonymous_variant	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.69G>A	20.37:g.35207246G>A			B2R9U3|E1P5T9|H0YNI0	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G23	ENST00000373874.2	37	c.69	CCDS13278.1	20																																																																																			TGIF2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.607	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	G	NM_021809		35207246	1	no_errors	ENST00000373872	ensembl	human	known	70_37	silent	SNP	0.993	A	A	35207246	G	A	35207246	2	1	126	1	0	0	0	0	0	0	0	1	15856	1161	41	1		1	TGIF2	20	35207246	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	1000016	35207246	27818274	110	19618										
TGIF2	60436	genome.wustl.edu	37	chr20	35207325	35207325	+	Missense_Mutation	SNP	G	G	A													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acgcctacccctcagagcagGagaagctgagcctttctgga							TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:35207325G>A	ENST00000373874.2	+	2	347	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.E50K|TGIF2_ENST00000373872.4_Missense_Mutation_p.E50K|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	50					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E50K(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTCAGAGCAGGAGAAGCTGAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											110	90	97					20																	35207325		2203	4300	6503	SO:0001583	missense	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.148G>A	20.37:g.35207325G>A	ENSP00000362981:p.Glu50Lys		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E50K	ENST00000373874.2	37	c.148	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.421691	0.96111	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.85629	-2.01;-2.01	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.87381	2.88	0.33311	D	0.566053	D	0.89917	1.0	D	0.91635	0.999	D	0.96132	0.9093	10	0.87932	D	0	-26.1498	15.8254	0.78703	0.0:0.0:1.0:0.0	.	50	Q9GZN2	TGIF2_HUMAN	K	50	ENSP00000362981:E50K;ENSP00000362979:E50K	ENSP00000362979:E50K	E	+	1	0	TGIF2	34640739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.327000	0.96396	2.316000	0.78162	0.561000	0.74099	GAG	TGIF2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.582	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	G	NM_021809		35207325	1	no_errors	ENST00000373872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35207325	G	A	35207325	3	1	126	1	0	0	0	0	1	0	0	0	15856	1175	41	1	150	1	TGIF2	20	35207325	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	79	35207325	27818195	111	19619	115	2								
TGIF2	60436	genome.wustl.edu	37	chr20	35207333	35207333	+	Silent	SNP	G	G	A													0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ccctcagagcaggagaagctGagcctttctggacagaccaa							TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:35207333G>A	ENST00000373874.2	+	2	355	c.156G>A	c.(154-156)ctG>ctA	p.L52L	TGIF2-C20orf24_ENST00000558530.1_Silent_p.L52L|TGIF2_ENST00000373872.4_Silent_p.L52L|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	52					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L52L(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGAGAAGCTGAGCCTTTCTG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											105	86	92					20																	35207333		2203	4300	6503	SO:0001819	synonymous_variant	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.156G>A	20.37:g.35207333G>A			B2R9U3|E1P5T9|H0YNI0	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L52	ENST00000373874.2	37	c.156	CCDS13278.1	20																																																																																			TGIF2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.587	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	G	NM_021809		35207333	1	no_errors	ENST00000373872	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35207333	G	A	35207333	2	1	126	1	0	0	0	0	0	0	0	1	15856	1277	45	1		1	TGIF2	20	35207333	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	8	35207333	27818187	112	19620	115	2								
CTCFL	140690	genome.wustl.edu	37	chr20	56098962	56098962	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ccttcttgctgctgtatgctCagcaagctcatatcctgcaa	7	13	3	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:56098962C>T	ENST00000608263.1	-	1	961	c.300G>A	c.(298-300)ctG>ctA	p.L100L	CTCFL_ENST00000432255.2_Silent_p.L100L|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000481655.2_Silent_p.L100L|CTCFL_ENST00000422869.2_Silent_p.L100L|CTCFL_ENST00000371196.2_Silent_p.L100L|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Silent_p.L100L|CTCFL_ENST00000608440.1_Silent_p.L100L|CTCFL_ENST00000243914.3_Silent_p.L100L|CTCFL_ENST00000608158.1_Silent_p.L100L|CTCFL_ENST00000423479.3_Silent_p.L100L|CTCFL_ENST00000608425.1_Silent_p.L100L|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Silent_p.L100L|CTCFL_ENST00000608903.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	100					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.L100L(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTGTATGCTCAGCAAGCTCA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											76	66	70					20																	56098962		2202	4299	6501	SO:0001819	synonymous_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.300G>A	20.37:g.56098962C>T			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L100	ENST00000608263.1	37	c.300	CCDS13459.1	20																																																																																			CTCFL	-	NULL		0.607	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	C	NM_080618		56098962	-1	no_errors	ENST00000423479	ensembl	human	known	70_37	silent	SNP	0.866	T	T	56098962	C	T	56098962	2	4	126	1	0	0	0	0	0	0	0	1	4006	813	29	1		1	CTCFL	20	56098962	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	20891629	56098962	6926558	113	19621										
CTCFL	140690	genome.wustl.edu	37	chr20	56099150	56099150	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	agggctccgatggtctttctCtctgcacactccgtcttttt	8	13	4	0			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:56099150C>G	ENST00000608263.1	-	1	773	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	CTCFL_ENST00000432255.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000481655.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000422869.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000371196.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.E38Q|CTCFL_ENST00000608440.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000243914.3_Missense_Mutation_p.E38Q|CTCFL_ENST00000608158.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.E38Q|CTCFL_ENST00000608425.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000608903.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	38					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.E38Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGGTCTTTCTCTCTGCACACT	0.552																																																	1	Substitution - Missense(1)	cervix(1)											220	241	234					20																	56099150		2203	4300	6503	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.112G>C	20.37:g.56099150C>G	ENSP00000476783:p.Glu38Gln		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E38Q	ENST00000608263.1	37	c.112	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204181	0.22205	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.10288	2.89;2.92;2.92;3.1;2.95;3.27;2.95;3.57;2.95	4.11	-0.43	0.12299	.	1.699740	0.03893	N	0.279096	T	0.09949	0.0244	N	0.22421	0.69	0.09310	N	1	P;P;B;D;B;B;B;B	0.59357	0.523;0.523;0.137;0.985;0.277;0.137;0.277;0.277	B;B;B;P;B;B;B;B	0.49799	0.063;0.063;0.043;0.622;0.043;0.043;0.063;0.063	T	0.20338	-1.0278	10	0.29301	T	0.29	-1.0794	2.6059	0.04878	0.1821:0.3568:0.3549:0.1062	.	38;38;38;38;38;38;38;38	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	Q	38	ENSP00000415579:E38Q;ENSP00000243914:E38Q;ENSP00000360239:E38Q;ENSP00000415329:E38Q;ENSP00000392034:E38Q;ENSP00000413713:E38Q;ENSP00000403369:E38Q;ENSP00000409344:E38Q;ENSP00000399061:E38Q	ENSP00000243914:E38Q	E	-	1	0	CTCFL	55532556	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.560000	0.23500	0.352000	0.24053	-0.176000	0.13171	GAG	CTCFL	-	NULL		0.552	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	C	NM_080618		56099150	-1	no_errors	ENST00000423479	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56099150	C	G	56099150	3	3	126	1	0	0	0	0	1	0	0	0	4006	922	32	1	1919	1	CTCFL	20	56099150	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	188	56099150	6926370	114	19622										
UMODL1	89766	genome.wustl.edu	37	chr21	43524176	43524176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gcacagtgttccagattgacCggcaggggacacgcgtgcaa	14	11	0	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr21:43524176C>T	ENST00000408910.2	+	9	1498	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	UMODL1_ENST00000400427.1_Missense_Mutation_p.R428W|UMODL1_ENST00000400424.2_Missense_Mutation_p.R428W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R500W|C21orf128_ENST00000329015.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	500	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.R428W(1)|p.R500W(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCAGATTGACCGGCAGGGGAC	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												2	Substitution - Missense(2)	cervix(2)											60	62	62					21																	43524176		2203	4300	6503	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1498C>T	21.37:g.43524176C>T	ENSP00000386147:p.Arg500Trp		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.R500W	ENST00000408910.2	37	c.1498	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	c	14.97	2.693909	0.48202	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.72394	-0.64;-0.65;-0.64;-0.63	3.67	2.79	0.32731	.	0.924080	0.08961	N	0.868718	T	0.56140	0.1965	N	0.22421	0.69	0.58432	D	0.999999	B;B;B	0.26775	0.035;0.159;0.012	B;B;B	0.22753	0.012;0.041;0.028	T	0.50110	-0.8866	10	0.45353	T	0.12	-1.5389	9.3268	0.37997	0.0:0.895:0.0:0.105	.	428;500;500	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	W	428;428;500;500	ENSP00000383279:R428W;ENSP00000383276:R428W;ENSP00000386126:R500W;ENSP00000386147:R500W	ENSP00000383276:R428W	R	+	1	2	UMODL1	42397245	0.941000	0.31946	0.525000	0.27900	0.322000	0.28314	2.264000	0.43302	1.133000	0.42147	-0.119000	0.15052	CGG	UMODL1	-	NULL		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	C			43524176	1	no_errors	ENST00000408989	ensembl	human	known	70_37	missense	SNP	0.757	T	T	43524176	C	T	43524176	3	4	126	1	0	0	0	0	1	0	0	0	17011	643	23	2	1532	2	UMODL1	21	43524176	Missense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		43524176	4605719	115	19623										
PCNT	5116	genome.wustl.edu	37	chr21	47786940	47786940	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	attttgactcaagagttggaGaaactgaagcggaaacacga	11	6	1	4			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr21:47786940G>A	ENST00000359568.5	+	15	3158	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1017					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E1017E(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGAGTTGGAGAAACTGAAGC	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											90	100	97					21																	47786940		2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3051G>A	21.37:g.47786940G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.E1017	ENST00000359568.5	37	c.3051	CCDS33592.1	21																																																																																			PCNT	-	NULL		0.547	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47786940	1	no_errors	ENST00000359568	ensembl	human	known	70_37	silent	SNP	0.875	A	A	47786940	G	A	47786940	2	1	126	1	0	0	0	0	0	0	0	1	11614	933	33	1		1	PCNT	21	47786940	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	4262764	47786940	342955	116	19624										
TUBA8	51807	genome.wustl.edu	37	chr22	18609338	18609338	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ccacaccacactggaacattCagattgtgctttcatggtgg	9	11	2	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr22:18609338C>G	ENST00000330423.3	+	4	666	c.593C>G	c.(592-594)tCa>tGa	p.S198*	TUBA8_ENST00000316027.6_Nonsense_Mutation_p.S132*	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	198					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S198*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTGGAACATTCAGATTGTGCT	0.542																																																	1	Substitution - Nonsense(1)	cervix(1)											161	142	148					22																	18609338		2203	4300	6503	SO:0001587	stop_gained	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.593C>G	22.37:g.18609338C>G	ENSP00000333326:p.Ser198*		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Nonsense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S198*	ENST00000330423.3	37	c.593	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	37	6.367684	0.97511	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	.	.	.	5.67	5.67	0.87782	.	0.062605	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1191	0.93355	0.0:1.0:0.0:0.0	.	.	.	.	X	132;198;222	.	ENSP00000318575:S132X	S	+	2	0	TUBA8	16989338	1.000000	0.71417	0.970000	0.41538	0.942000	0.58702	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCA	TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin		0.542	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	C	NM_018943		18609338	1	no_errors	ENST00000330423	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	18609338	C	G	18609338	4	3	126	1	0	0	0	0	0	1	0	0	16781	838	29	1	607	1	TUBA8	22	18609338	Nonsense_Mutation	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08		18609338	32695228	117	19625										
C22orf31	25770	genome.wustl.edu	37	chr22	29456463	29456463	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	tgcttgctcttggaactgatGaagtttcttttcctggcctg	10	9	2	2	rs552864793		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr22:29456463G>A	ENST00000216071.4	-	2	423	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	124								p.F124F(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TGGAACTGATGAAGTTTCTTT	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											127	115	119					22																	29456463		2203	4300	6503	SO:0001819	synonymous_variant	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.372C>T	22.37:g.29456463G>A			A0AV97	Silent	SNP	NULL	p.F124	ENST00000216071.4	37	c.372	CCDS13848.1	22																																																																																			C22orf31	-	NULL		0.522	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	G	NM_015370		29456463	-1	no_errors	ENST00000216071	ensembl	human	known	70_37	silent	SNP	0.012	A	A	29456463	G	A	29456463	2	1	126	1	0	0	0	0	0	0	0	1	2148	1281	45	1		1	C22orf31	22	29456463	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	10847125	29456463	21848103	118	19626										
MXRA5	25878	genome.wustl.edu	37	chrX	3229028	3229028	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gtcagaacgctgggctttctGaataaggagagtgccatctt	12	8	3	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:3229028G>A	ENST00000217939.6	-	7	7370	c.7216C>T	c.(7216-7218)Cag>Tag	p.Q2406*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2406	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)		p.Q2406*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGCTTTCTGAATAAGGAGA	0.537																																																	2	Substitution - Nonsense(2)	cervix(2)											96	77	83					X																	3229028		2203	4300	6503	SO:0001587	stop_gained	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7216C>T	X.37:g.3229028G>A	ENSP00000217939:p.Gln2406*		Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q2406*	ENST00000217939.6	37	c.7216	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	45	11.554193	0.99575	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.78	3.78	0.43462	.	0.220262	0.23051	U	0.052492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.4341	0.75129	0.0:0.0:1.0:0.0	.	.	.	.	X	2406	.	ENSP00000217939:Q2406X	Q	-	1	0	MXRA5	3239028	1.000000	0.71417	0.012000	0.15200	0.024000	0.10985	4.941000	0.63540	1.526000	0.49068	0.597000	0.82753	CAG	MXRA5	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.537	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3229028	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	nonsense	SNP	0.936	A	A	3229028	G	A	3229028	4	1	126	1	0	0	0	0	0	1	0	0	10026	1299	45	1	1274	1	MXRA5	23	3229028	Nonsense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08		3229028	152041532	119	19627										
FAM123B	139285	genome.wustl.edu	37	chrX	63412990	63412990	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	atacccttcttgccaccaaaGagtttcatggcagttttctt	6	11	3	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:63412990G>C	ENST00000330258.3	-	2	449	c.177C>G	c.(175-177)ctC>ctG	p.L59L	AMER1_ENST00000374869.3_Silent_p.L59L|AMER1_ENST00000403336.1_Silent_p.L59L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	59					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.L59L(2)									TGCCACCAAAGAGTTTCATGG	0.522																																																	69	Whole gene deletion(67)|Substitution - coding silent(2)	kidney(65)|cervix(2)|ovary(1)|large_intestine(1)											182	149	160					X																	63412990		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.177C>G	X.37:g.63412990G>C			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.L59	ENST00000330258.3	37	c.177	CCDS14377.2	X																																																																																			FAM123B	-	NULL		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	G	NM_152424		63412990	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	silent	SNP	0.613	C	C	63412990	G	C	63412990	2	2	126	1	0	0	0	0	0	0	0	1	5438	929	33	1		1	FAM123B	23	63412990	Silent	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	60183962	63412990	91857570	120	19628										
TAF9B	51616	genome.wustl.edu	37	chrX	77387268	77387268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ttgaactgcagttgttgcagGaactgtaaacagagaagaaa	11	5	0	3			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:77387268G>A	ENST00000341864.5	-	7	689	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	199					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)	p.P199S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						GTTGTTGCAGGAACTGTAAAC	0.373																																																	1	Substitution - Missense(1)	cervix(1)											104	97	99					X																	77387268		2203	4296	6499	SO:0001583	missense	51616			AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.595C>T	X.37:g.77387268G>A	ENSP00000339917:p.Pro199Ser		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	pfam_TFIID-31,superfamily_Histone-fold	p.P199S	ENST00000341864.5	37	c.595	CCDS35340.1	X	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511698	0.44660	.	.	ENSG00000187325	ENST00000341864	T	0.14144	2.53	4.22	4.22	0.49857	.	0.060156	0.64402	D	0.000002	T	0.28632	0.0709	L	0.52011	1.625	0.52099	D	0.999943	D	0.57571	0.98	D	0.70227	0.968	T	0.01068	-1.1462	10	0.34782	T	0.22	-3.56	13.0432	0.58913	0.0:0.0:1.0:0.0	.	199	Q9HBM6	TAF9B_HUMAN	S	199	ENSP00000339917:P199S	ENSP00000339917:P199S	P	-	1	0	TAF9B	77273924	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.096000	0.64535	1.930000	0.55929	0.422000	0.28245	CCT	TAF9B	-	NULL		0.373	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9B	HGNC	protein_coding	OTTHUMT00000057308.1	G	NM_015975		77387268	-1	no_errors	ENST00000341864	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77387268	G	A	77387268	3	1	126	1	0	0	0	0	1	0	0	0	15566	1174	41	1	164	1	TAF9B	23	77387268	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	13974278	77387268	77883292	121	19629										
PABPC5	140886	genome.wustl.edu	37	chrX	90691095	90691095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	ggagtgcggctcaacaaccgCcaggtgtatgttggcagatt	14	9	1	1			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:90691095C>T	ENST00000312600.3	+	2	733	c.519C>T	c.(517-519)cgC>cgT	p.R173R	PABPC5_ENST00000373105.1_Silent_p.R9R|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R173R(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAACAACCGCCAGGTGTATG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											38	35	36					X																	90691095		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.519C>T	X.37:g.90691095C>T			A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R173	ENST00000312600.3	37	c.519	CCDS14460.1	X																																																																																			PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	C	NM_080832		90691095	1	no_errors	ENST00000312600	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90691095	C	T	90691095	2	4	126	1	0	0	0	0	0	0	0	1	11391	726	26	4		4	PABPC5	23	90691095	Silent	SNP	C	TCGA-FU-A23K-01A-11D-A16O-08	13303827	90691095	64579465	122	19630										
AMOT	154796	genome.wustl.edu	37	chrX	112058755	112058755	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	gctgagcccgaggcatagctGaataggcttctcctggctgc	13	12	1	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:112058755G>C	ENST00000524145.1	-	3	1297	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*	AMOT_ENST00000371959.3_Nonsense_Mutation_p.S408*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.S176*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.S176*|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	408					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.S408*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCATAGCTGAATAGGCTTC	0.562																																																	1	Substitution - Nonsense(1)	cervix(1)											72	64	67					X																	112058755		2203	4300	6503	SO:0001587	stop_gained	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1223C>G	X.37:g.112058755G>C	ENSP00000429013:p.Ser408*		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.S408*	ENST00000524145.1	37	c.1223	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.732343	0.97796	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.45	5.45	0.79879	.	0.578499	0.18039	N	0.153694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-4.5832	15.3085	0.74011	0.0:0.0:1.0:0.0	.	.	.	.	X	408;176;408;176	.	ENSP00000361026:S176X	S	-	2	0	AMOT	111945411	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	4.762000	0.62250	2.527000	0.85204	0.600000	0.82982	TCA	AMOT	-	NULL		0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112058755	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	112058755	G	C	112058755	4	2	126	1	0	0	0	0	0	1	0	0	582	1294	45	1	2071	1	AMOT	23	112058755	Nonsense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	21367660	112058755	43211805	123	19631										
USP26	83844	genome.wustl.edu	37	chrX	132161099	132161099	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.418032786885246	51	1.14912783338788e-17	3.79293413173653	4.64820359281437	3.22275449101796	1	1	38	acagtgagctaaaaactcatGagcatcgttctgtgcattgc	9	9	2	2			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:132161099G>A	ENST00000511190.1	-	6	1619	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	USP26_ENST00000406273.1_Missense_Mutation_p.H384Y|USP26_ENST00000370832.1_Missense_Mutation_p.H384Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	384	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.H384Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAACTCATGAGCATCGTTC	0.358																																					NSCLC(104;342 1621 36940 47097 52632)												1	Substitution - Missense(1)	cervix(1)											81	78	79					X																	132161099		2203	4299	6502	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1150C>T	X.37:g.132161099G>A	ENSP00000423390:p.His384Tyr		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H384Y	ENST00000511190.1	37	c.1150	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	g	14.01	2.408194	0.42715	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.75938	-0.98;-0.98;-0.98	3.47	2.61	0.31194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.50627	D	0.000113	D	0.84316	0.5445	M	0.82716	2.605	0.31809	N	0.627372	D	0.89917	1.0	D	0.97110	1.0	D	0.84328	0.0520	10	0.87932	D	0	-11.7775	8.4179	0.32683	0.124:0.0:0.876:0.0	.	384	Q9BXU7	UBP26_HUMAN	Y	384	ENSP00000359869:H384Y;ENSP00000423390:H384Y;ENSP00000384360:H384Y	ENSP00000359869:H384Y	H	-	1	0	USP26	131988765	1.000000	0.71417	0.997000	0.53966	0.394000	0.30568	6.024000	0.70857	0.849000	0.35215	0.519000	0.50382	CAT	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.358	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132161099	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132161099	G	A	132161099	3	1	126	1	0	0	0	0	1	0	0	0	17088	1290	45	1	1594	1	USP26	23	132161099	Missense_Mutation	SNP	G	TCGA-FU-A23K-01A-11D-A16O-08	20102344	132161099	23109461	124	19632										
CROCC	9696	genome.wustl.edu	37	chr1	17257074	17257074	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gagcaccgggaggcggcgtgGaggcgcgaggaggaggtggg	25	7	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:17257074G>C	ENST00000375541.5	+	7	903	c.834G>C	c.(832-834)tgG>tgC	p.W278C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.W278C(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCGGCGTGGAGGCGCGAGG	0.662																																																	1	Substitution - Missense(1)	cervix(1)											19	17	18					1																	17257074		2195	4281	6476	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.834G>C	1.37:g.17257074G>C	ENSP00000364691:p.Trp278Cys			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.W278C	ENST00000375541.5	37	c.834	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777526	0.49786	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.22134	1.97	5.21	5.21	0.72293	.	.	.	.	.	T	0.48059	0.1479	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.44097	-0.9350	9	0.46703	T	0.11	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	141;278	A1L0S8;Q5TZA2	.;CROCC_HUMAN	C	278;159	ENSP00000364691:W278C	ENSP00000364691:W278C	W	+	3	0	CROCC	17129661	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.591000	0.82666	2.421000	0.82119	0.555000	0.69702	TGG	CROCC	-	NULL		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17257074	1	no_errors	ENST00000375541	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17257074	G	C	17257074	3	2	127	1	0	0	0	0	1	0	0	0	3898	1183	41	1	860	1	CROCC	1	17257074	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		17257074	231993547	1	19633										
EPHA8	2046	genome.wustl.edu	37	chr1	22912997	22912997	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgagctgggcttctacaagtCagcccctggggaccagctgt	13	12	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:22912997C>T	ENST00000166244.3	+	4	920	c.848C>T	c.(847-849)tCa>tTa	p.S283L	EPHA8_ENST00000374644.4_Missense_Mutation_p.S283L|EPHA8_ENST00000538803.1_Missense_Mutation_p.S283L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	283	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S283L(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTACAAGTCAGCCCCTGGG	0.672																																																	2	Substitution - Missense(2)	cervix(2)											47	47	47					1																	22912997		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.848C>T	1.37:g.22912997C>T	ENSP00000166244:p.Ser283Leu		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S283L	ENST00000166244.3	37	c.848	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162096	0.57368	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97455	1.61;-4.39;-4.39	4.35	4.35	0.52113	.	0.167473	0.41396	D	0.000894	D	0.95535	0.8549	M	0.66297	2.02	0.35977	D	0.835741	B;B	0.27229	0.172;0.03	B;B	0.18871	0.023;0.02	D	0.96994	0.9724	10	0.54805	T	0.06	.	15.6037	0.76646	0.0:1.0:0.0:0.0	.	283;283	P29322;P29322-2	EPHA8_HUMAN;.	L	283	ENSP00000166244:S283L;ENSP00000363775:S283L;ENSP00000440274:S283L	ENSP00000166244:S283L	S	+	2	0	EPHA8	22785584	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.712000	0.68407	2.265000	0.75225	0.455000	0.32223	TCA	EPHA8	-	superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	C	NM_020526		22912997	1	no_errors	ENST00000166244	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22912997	C	T	22912997	3	4	127	1	0	0	0	0	1	0	0	0	5185	838	29	1	862	1	EPHA8	1	22912997	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	5655923	22912997	226337624	2	19634										
RPS6KA1	6195	genome.wustl.edu	37	chr1	26898762	26898763	+	Frame_Shift_Del	DEL	AC	AC	-													0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cctcagtgggggaaattggaAcacagtttcagagacagcca							TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:26898762_26898763delAC	ENST00000374168.2	+	20	2079_2080	c.1925_1926delAC	c.(1924-1926)aacfs	p.N642fs	RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.N631fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.N550fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.N550fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.N651fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.N626fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	642	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGAAATTGGAACACAGTTTCAG	0.535																																																	0																																										SO:0001589	frameshift_variant	6195			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1925_1926delAC	1.37:g.26898764_26898765delAC	ENSP00000363283:p.Asn642fs		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T652fs	ENST00000374168.2	37	c.1952_1953	CCDS284.1	1																																																																																			RPS6KA1	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.535	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	AC	NM_002953		26898763	1	no_errors	ENST00000531382	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	26898763	AC	-	26898762	7	5	127	1	0	1	0	1	0	0	0	0	13680	43	2	0	2142	0	RPS6KA1	1	26898762	Frame_Shift_Del	DEL	AC	TCGA-FU-A23L-01A-11D-A16O-08	3985765	26898762	222351859	3	19635										
NUDC	10726	genome.wustl.edu	37	chr1	27272631	27272631	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtttctccaggttcatggatCaacatccggagatggatttt	10	8	3	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:27272631C>T	ENST00000321265.5	+	9	1078	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	319					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)		p.Q319*(2)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GTTCATGGATCAACATCCGGA	0.478																																																	2	Substitution - Nonsense(2)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)											99	93	95					1																	27272631		2203	4300	6503	SO:0001587	stop_gained	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.955C>T	1.37:g.27272631C>T	ENSP00000319664:p.Gln319*		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Nonsense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.Q319*	ENST00000321265.5	37	c.955	CCDS292.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.699264	0.96802	.	.	ENSG00000090273	ENST00000321265	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	0.0105	18.9343	0.92579	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000319664:Q319X	Q	+	1	0	NUDC	27145218	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.243000	0.78219	2.480000	0.83734	0.561000	0.74099	CAA	NUDC	-	NULL		0.478	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	C			27272631	1	no_errors	ENST00000321265	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27272631	C	T	27272631	4	4	127	1	0	0	0	0	0	1	0	0	10745	827	29	1	989	1	NUDC	1	27272631	Nonsense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	373869	27272631	221977990	4	19636										
THRAP3	9967	genome.wustl.edu	37	chr1	36754830	36754830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctgattctgagaagccttttCggggcagtcagtctcccaaa	10	11	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:36754830C>T	ENST00000354618.5	+	5	1434	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	THRAP3_ENST00000469141.2_Missense_Mutation_p.R404W	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	404	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R404W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCCTTTTCGGGGCAGTCA	0.428			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	cervix(1)											64	68	67					1																	36754830		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1210C>T	1.37:g.36754830C>T	ENSP00000346634:p.Arg404Trp		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.R404W	ENST00000354618.5	37	c.1210	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268665	0.59540	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.95	2.92	0.33932	.	0.084738	0.49916	D	0.000125	T	0.32285	0.0824	L	0.54323	1.7	0.48452	D	0.999656	D	0.89917	1.0	D	0.72338	0.977	T	0.02457	-1.1156	10	0.66056	D	0.02	-0.3239	9.3892	0.38363	0.2565:0.6764:0.0:0.0671	.	404	Q9Y2W1	TR150_HUMAN	W	404	ENSP00000346634:R404W;ENSP00000433825:R404W	ENSP00000346634:R404W	R	+	1	2	THRAP3	36527417	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.136000	0.42121	0.827000	0.34685	0.655000	0.94253	CGG	THRAP3	-	NULL		0.428	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36754830	1	no_errors	ENST00000354618	ensembl	human	known	70_37	missense	SNP	0.997	T	T	36754830	C	T	36754830	3	4	127	1	0	0	0	0	1	0	0	0	15904	875	31	1	1220	1	THRAP3	1	36754830	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	9482199	36754830	212495791	5	19637										
COL24A1	255631	genome.wustl.edu	37	chr1	86342821	86342821	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttacctccatgcccatttctCcaggaggtccaacatcacct	5	16	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:86342821C>G	ENST00000370571.2	-	33	3380	c.3014G>C	c.(3013-3015)gGa>gCa	p.G1005A	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1005A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1005	Collagen-like 8.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G1005A(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCCATTTCTCCAGGAGGTCC	0.303																																																	1	Substitution - Missense(1)	cervix(1)											37	35	36					1																	86342821		1804	4077	5881	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3014G>C	1.37:g.86342821C>G	ENSP00000359603:p.Gly1005Ala		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1005A	ENST00000370571.2	37	c.3014	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438564	0.43326	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99607	-6.27;-5.5	5.37	5.37	0.77165	.	0.000000	0.39341	N	0.001391	D	0.99771	0.9906	H	0.96048	3.76	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97172	0.9845	10	0.87932	D	0	.	14.5962	0.68410	0.0:1.0:0.0:0.0	.	1005;1005	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	A	1005	ENSP00000359603:G1005A;ENSP00000392531:G1005A	ENSP00000359603:G1005A	G	-	2	0	COL24A1	86115409	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.042000	0.57347	2.515000	0.84797	0.467000	0.42956	GGA	COL24A1	-	NULL		0.303	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86342821	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86342821	C	G	86342821	3	3	127	1	0	0	0	0	1	0	0	0	3688	855	30	1	2242	1	COL24A1	1	86342821	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	49587991	86342821	162907800	6	19638										
DENND2C	163259	genome.wustl.edu	37	chr1	115167965	115167965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ataaatatctgaatgtcctaCgaggttttggcaaaggattt	9	5	1	1	rs372971179		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:115167965C>T	ENST00000393274.1	-	4	1266	c.641G>A	c.(640-642)cGt>cAt	p.R214H	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393277.1_Missense_Mutation_p.R214H|DENND2C_ENST00000393276.3_Missense_Mutation_p.R214H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	214					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R214H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGTCCTACGAGGTTTTGG	0.378																																																	1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	97	97		641	5	1	1		97	0,8600		0,0,4300	no	missense	DENND2C	NM_198459.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	214/872	115167965	1,13005	2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.641G>A	1.37:g.115167965C>T	ENSP00000376955:p.Arg214His		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R214H	ENST00000393274.1	37	c.641	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419043	0.83559	2.27E-4	0.0	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12361	3.15;3.36;2.69	5.0	5.0	0.66597	.	0.069099	0.64402	D	0.000014	T	0.30479	0.0766	M	0.72118	2.19	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.971;0.991	T	0.09207	-1.0685	10	0.87932	D	0	.	18.2774	0.90087	0.0:1.0:0.0:0.0	.	214;214	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	214	ENSP00000376957:R214H;ENSP00000376955:R214H;ENSP00000376958:R214H	ENSP00000358553:R214H	R	-	2	0	DENND2C	114969488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	2.333000	0.79357	0.585000	0.79938	CGT	DENND2C	-	NULL		0.378	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115167965	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115167965	C	T	115167965	3	4	127	1	0	0	0	0	1	0	0	0	4440	536	19	2	2042	2	DENND2C	1	115167965	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	28825144	115167965	134082656	7	19639										
CD101	9398	genome.wustl.edu	37	chr1	117556245	117556246	+	Frame_Shift_Del	DEL	AA	AA	-													0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caaggagagctccaggtttcAaagttaggccccaaggcttt							TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:117556245_117556246delAA	ENST00000256652.4	+	4	1117_1118	c.1059_1060delAA	c.(1057-1062)tcaaagfs	p.K354fs	CD101_ENST00000369470.1_Frame_Shift_Del_p.K354fs	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	354	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCCAGGTTTCAAAGTTAGGCCC	0.5																																																	0																																										SO:0001589	frameshift_variant	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1059_1060delAA	1.37:g.117556245_117556246delAA	ENSP00000256652:p.Lys354fs		Q15856	Frame_Shift_Del	DEL	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K354fs	ENST00000256652.4	37	c.1059_1060	CCDS891.1	1																																																																																			CD101	-	smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like		0.5	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	AA	NM_004258		117556246	1	no_errors	ENST00000256652	ensembl	human	known	70_37	frame_shift_del	DEL	0.849:0.991	-	-	117556246	AA	-	117556245	7	5	127	1	0	1	0	1	0	0	0	0	2967	117	5	0	1073	0	CD101	1	117556245	Frame_Shift_Del	DEL	AA	TCGA-FU-A23L-01A-11D-A16O-08	2388280	117556245	131694376	8	19640										
SEMA4A	64218	genome.wustl.edu	37	chr1	156132829	156132829	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aatacaaagagttgaacaaaGaaacttcacgctggactact	7	8	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:156132829G>A	ENST00000368285.3	+	10	1345	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	SEMA4A_ENST00000368282.1_Missense_Mutation_p.E360K|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E228K|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E360K|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E228K|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E360K(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GTTGAACAAAGAAACTTCACG	0.522																																																	1	Substitution - Missense(1)	cervix(1)											101	100	100					1																	156132829		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1078G>A	1.37:g.156132829G>A	ENSP00000357268:p.Glu360Lys		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E360K	ENST00000368285.3	37	c.1078	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.469468	0.96274	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.161988	0.52532	D	0.000061	T	0.25306	0.0615	M	0.74881	2.28	0.58432	D	0.999994	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.977	T	0.00824	-1.1551	10	0.51188	T	0.08	.	16.9524	0.86249	0.0:0.0:1.0:0.0	.	228;360	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	K	360;360;228;322;322;228;360	ENSP00000347117:E360K;ENSP00000357268:E360K;ENSP00000357267:E228K;ENSP00000357269:E228K;ENSP00000357265:E360K	ENSP00000347117:E360K	E	+	1	0	SEMA4A	154399453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.642000	0.67888	2.581000	0.87130	0.551000	0.68910	GAA	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.522	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	G	NM_022367		156132829	1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156132829	G	A	156132829	3	1	127	1	0	0	0	0	1	0	0	0	14061	943	33	1	1112	1	SEMA4A	1	156132829	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	38576584	156132829	93117792	9	19641										
IGSF9	57549	genome.wustl.edu	37	chr1	159898366	159898366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aagcgggggccagtccccatCcacattcatctctcggaaga	10	14	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:159898366C>T	ENST00000368094.1	-	19	3009	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.D922N	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	938	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D922H(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTCCCCATCCACATTCATC	0.637																																																	1	Substitution - Missense(1)	lung(1)											19	20	19					1																	159898366		2201	4297	6498	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2812G>A	1.37:g.159898366C>T	ENSP00000357073:p.Asp938Asn			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D938N	ENST00000368094.1	37	c.2812	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366472	0.82463	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.75821	-0.97;-0.89	4.63	4.63	0.57726	.	0.000000	0.39475	N	0.001351	T	0.70988	0.3287	L	0.27053	0.805	0.36082	D	0.842867	D;D	0.89917	0.993;1.0	D;D	0.80764	0.984;0.994	T	0.71593	-0.4546	9	.	.	.	-5.0638	15.0052	0.71507	0.0:1.0:0.0:0.0	.	938;476	Q9P2J2;C9JI81	TUTLA_HUMAN;.	N	922;938;476	ENSP00000355049:D922N;ENSP00000357073:D938N	.	D	-	1	0	IGSF9	158164990	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	1.869000	0.39519	2.378000	0.81104	0.655000	0.94253	GAT	IGSF9	-	NULL		0.637	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	C	NM_020789		159898366	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159898366	C	T	159898366	3	4	127	1	0	0	0	0	1	0	0	0	7625	855	30	1	739	1	IGSF9	1	159898366	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	3765537	159898366	89352255	10	19642										
PPOX	5498	genome.wustl.edu	37	chr1	161139704	161139704	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cctgatctctagtgctcagtGagctgctccctgctgaggct	11	13	2	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:161139704G>T	ENST00000367999.4	+	9	1143	c.877G>T	c.(877-879)Gag>Tag	p.E293*	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Nonsense_Mutation_p.E293*|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	293					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.E293*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTGCTCAGTGAGCTGCTCCC	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											82	76	78					1																	161139704		2203	4300	6503	SO:0001587	stop_gained	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.877G>T	1.37:g.161139704G>T	ENSP00000356978:p.Glu293*		D3DVG0|Q5VTW8	Nonsense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.E293*	ENST00000367999.4	37	c.877	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568791	0.86439	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	.	.	.	5.32	-4.61	0.03380	.	0.777044	0.12823	N	0.436263	.	.	.	.	.	.	0.29077	N	0.882913	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.8511	6.3721	0.21487	0.2645:0.3195:0.416:0.0	.	.	.	.	X	293;293;260	.	ENSP00000343943:E293X	E	+	1	0	PPOX	159406328	0.000000	0.05858	0.492000	0.27490	0.629000	0.37895	-0.491000	0.06474	-0.825000	0.04290	-0.300000	0.09419	GAG	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase		0.547	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	G	NM_000309		161139704	1	no_errors	ENST00000352210	ensembl	human	known	70_37	nonsense	SNP	0.273	T	T	161139704	G	T	161139704	4	4	127	1	0	0	0	0	0	1	0	0	12375	1291	45	3	907	3	PPOX	1	161139704	Nonsense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	1241338	161139704	88110917	11	19643										
FMN2	56776	genome.wustl.edu	37	chr1	240256018	240256018	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcagacatccagcaggcgatCcgcctgcagcagcagcagca	11	15	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr1:240256018C>G	ENST00000319653.9	+	1	839	c.609C>G	c.(607-609)atC>atG	p.I203M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	203	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.I346M(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCAGGCGATCCGCCTgcagc	0.627																																																	1	Substitution - Missense(1)	cervix(1)											41	41	41					1																	240256018		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.609C>G	1.37:g.240256018C>G	ENSP00000318884:p.Ile203Met		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.I203M	ENST00000319653.9	37	c.609	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909666	0.17833	.	.	ENSG00000155816	ENST00000319653	T	0.38887	1.11	3.53	-4.75	0.03239	.	0.000000	0.64402	D	0.000012	T	0.47838	0.1467	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.51772	-0.8663	10	0.87932	D	0	.	5.8716	0.18807	0.1251:0.3819:0.0:0.493	.	203	Q9NZ56	FMN2_HUMAN	M	203	ENSP00000318884:I203M	ENSP00000318884:I203M	I	+	3	3	FMN2	238322641	0.617000	0.27043	0.895000	0.35142	0.926000	0.56050	-0.306000	0.08178	-0.940000	0.03705	0.306000	0.20318	ATC	FMN2	-	NULL		0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240256018	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.864	G	G	240256018	C	G	240256018	3	3	127	1	0	0	0	0	1	0	0	0	5968	845	30	1	611	1	FMN2	1	240256018	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	79116314	240256018	8994603	12	19644										
PXDN	7837	genome.wustl.edu	37	chr2	1647149	1647149	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctggcacgcaccttcacagcAgtcctgccacacccggaggt	10	17	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:1647149A>T	ENST00000252804.4	-	19	3993	c.3943T>A	c.(3943-3945)Tgc>Agc	p.C1315S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1315					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C1315S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCTTCACAGCAGTCCTGCCAC	0.602																																																	1	Substitution - Missense(1)	cervix(1)											59	67	64					2																	1647149		2108	4212	6320	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3943T>A	2.37:g.1647149A>T	ENSP00000252804:p.Cys1315Ser		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.C1315S	ENST00000252804.4	37	c.3943	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264654	0.80358	.	.	ENSG00000130508	ENST00000252804	T	0.60040	0.22	5.13	5.13	0.70059	.	0.217715	0.49305	D	0.000155	T	0.67581	0.2908	L	0.51914	1.62	0.80722	D	1	D	0.56746	0.977	P	0.59825	0.864	T	0.70579	-0.4833	10	0.62326	D	0.03	-47.4326	15.0	0.71464	1.0:0.0:0.0:0.0	.	1315	Q92626	PXDN_HUMAN	S	1315	ENSP00000252804:C1315S	ENSP00000252804:C1315S	C	-	1	0	PXDN	1626156	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.965000	0.93393	1.949000	0.56562	0.456000	0.33151	TGC	PXDN	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	A	XM_056455		1647149	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1647149	A	T	1647149	3	4	127	1	0	0	0	0	1	0	0	0	12877	188	7	5	516	5	PXDN	2	1647149	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08		1647149	241552224	13	19645										
ROCK2	9475	genome.wustl.edu	37	chr2	11332586	11332586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttatcatttacctttgcaagGtgctataatctcctcctttt	4	10	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:11332586G>A	ENST00000315872.6	-	31	4388	c.3940C>T	c.(3940-3942)Cct>Tct	p.P1314S	ROCK2_ENST00000401753.1_Missense_Mutation_p.P1071S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1314	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.P1314S(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCTTTGCAAGGTGCTATAATC	0.353																																																	2	Substitution - Missense(2)	cervix(2)											104	98	100					2																	11332586		1866	4101	5967	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3940C>T	2.37:g.11332586G>A	ENSP00000317985:p.Pro1314Ser		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P1314S	ENST00000315872.6	37	c.3940	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892291	0.91889	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.74632	-0.86;-0.86	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89026	0.3438	10	0.72032	D	0.01	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	1314	O75116	ROCK2_HUMAN	S	1314;1071;672	ENSP00000317985:P1314S;ENSP00000385509:P1071S	ENSP00000317985:P1314S	P	-	1	0	ROCK2	11250037	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.864000	0.99589	2.605000	0.88082	0.591000	0.81541	CCT	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.353	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	G			11332586	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11332586	G	A	11332586	3	1	127	1	0	0	0	0	1	0	0	0	13548	1261	44	4	238	4	ROCK2	2	11332586	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	9685437	11332586	231866787	14	19646										
PREB	10113	genome.wustl.edu	37	chr2	27354887	27354887	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccacccattacctggagagaGaaagctatgtagatggcaac	10	10	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:27354887G>C	ENST00000260643.2	-	7	1243	c.990C>G	c.(988-990)ttC>ttG	p.F330L	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Missense_Mutation_p.F272L	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	330					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F330L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGAGAGAGAAAGCTATGT	0.547																																																	1	Substitution - Missense(1)	cervix(1)											127	126	126					2																	27354887		2203	4300	6503	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.990C>G	2.37:g.27354887G>C	ENSP00000260643:p.Phe330Leu		Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F330L	ENST00000260643.2	37	c.990	CCDS1738.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643253|3.643253	0.67244|0.67244	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336|ENST00000456259;ENST00000430533	T;T|.	0.28255|.	1.62;5.08|.	5.75|5.75	3.62|3.62	0.41486|0.41486	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71256|0.71256	0.3318|0.3318	M|M	0.81942|0.81942	2.565|2.565	0.54753|0.54753	D|D	0.999988|0.999988	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.985|.	T|T	0.71817|0.71817	-0.4478|-0.4478	10|5	0.40728|.	T|.	0.16|.	-19.065|-19.065	7.9249|7.9249	0.29867|0.29867	0.2704:0.0:0.7296:0.0|0.2704:0.0:0.7296:0.0	.|.	272;330|.	B5MC98;Q9HCU5|.	.;PREB_HUMAN|.	L|V	330;272;330|74;86	ENSP00000260643:F330L;ENSP00000384032:F272L|.	ENSP00000260643:F330L|.	F|L	-|-	3|1	2|0	PREB|PREB	27208391|27208391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.992000|3.992000	0.56980|0.56980	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	TTC|CTC	PREB	-	superfamily_Quinonprotein_ADH-like		0.547	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	G	NM_013388		27354887	-1	no_errors	ENST00000260643	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27354887	G	C	27354887	3	2	127	1	0	0	0	0	1	0	0	0	12497	933	33	1	275	1	PREB	2	27354887	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	16022301	27354887	215844486	15	19647										
ABCG8	64241	genome.wustl.edu	37	chr2	44073355	44073355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcagttcaagatgccctggaCatctcccagctgccagaatt	8	13	3	2	rs554837252		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:44073355C>T	ENST00000272286.2	+	3	317	c.227C>T	c.(226-228)aCa>aTa	p.T76I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	76	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.T76I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ATGCCCTGGACATCTCCCAGC	0.537																																																	1	Substitution - Missense(1)	cervix(1)											66	64	65					2																	44073355		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.227C>T	2.37:g.44073355C>T	ENSP00000272286:p.Thr76Ile		Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.T76I	ENST00000272286.2	37	c.227	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169547	0.09339	.	.	ENSG00000143921	ENST00000272286	D	0.88124	-2.34	5.69	-2.53	0.06326	ABC transporter-like (1);	1.501700	0.03375	N	0.199515	T	0.70456	0.3226	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.56589	-0.7954	10	0.36615	T	0.2	.	1.1135	0.01709	0.224:0.3217:0.1072:0.3471	.	76;76	Q9H221-2;Q9H221	.;ABCG8_HUMAN	I	76	ENSP00000272286:T76I	ENSP00000272286:T76I	T	+	2	0	ABCG8	43926859	.	.	0.001000	0.08648	0.145000	0.21501	.	.	-0.325000	0.08577	0.650000	0.86243	ACA	ABCG8	-	pfscan_ABC_transporter-like		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44073355	1	no_errors	ENST00000272286	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44073355	C	T	44073355	3	4	127	1	0	0	0	0	1	0	0	0	72	478	17	4	237	4	ABCG8	2	44073355	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	16718468	44073355	199126018	16	19648										
AFF3	3899	genome.wustl.edu	37	chr2	100623769	100623769	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgaatctgcaacaaaatgttCatcgatcttgttcacaggag	8	8	4	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:100623769C>T	ENST00000409236.2	-	4	440	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	AFF3_ENST00000317233.4_Missense_Mutation_p.E110K|AFF3_ENST00000409579.1_Missense_Mutation_p.E135K|AFF3_ENST00000356421.2_Missense_Mutation_p.E135K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	110					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E135K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACAAAATGTTCATCGATCTTG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											110	120	117					2																	100623769		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.328G>A	2.37:g.100623769C>T	ENSP00000387207:p.Glu110Lys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E135K	ENST00000409236.2	37	c.403	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454399	0.63290	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.21	5.21	0.72293	.	0.205958	0.34088	N	0.004275	T	0.52092	0.1713	N	0.22421	0.69	0.34232	D	0.676585	P;P;P;P;P	0.43938	0.684;0.493;0.822;0.549;0.493	B;B;P;B;B	0.45753	0.423;0.053;0.492;0.089;0.053	T	0.57797	-0.7749	10	0.16420	T	0.52	.	14.6967	0.69126	0.0:0.8551:0.1449:0.0	.	264;264;110;110;135	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	110;135;135;110;110;264;135;110;110;110;110	ENSP00000317421:E110K;ENSP00000348793:E135K;ENSP00000386834:E135K;ENSP00000387207:E110K;ENSP00000406484:E110K;ENSP00000396582:E110K;ENSP00000399795:E110K;ENSP00000411383:E110K	ENSP00000317421:E110K	E	-	1	0	AFF3	99990201	1.000000	0.71417	0.635000	0.29338	0.951000	0.60555	5.978000	0.70501	2.579000	0.87056	0.585000	0.79938	GAA	AFF3	-	pfam_TF_AF4/FMR2		0.468	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100623769	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.953	T	T	100623769	C	T	100623769	3	4	127	1	0	0	0	0	1	0	0	0	358	835	29	1	3432	1	AFF3	2	100623769	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	56550414	100623769	142575604	17	19649										
SPOPL	339745	genome.wustl.edu	37	chr2	139308479	139308479	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttgttttattttaggtgcctGagggtaaacccaaagggatt	11	5	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:139308479G>A	ENST00000280098.4	+	4	586	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	69	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.L69L(2)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTAGGTGCCTGAGGGTAAACC	0.383																																																	2	Substitution - coding silent(2)	cervix(1)|breast(1)											78	82	81					2																	139308479		2203	4299	6502	SO:0001819	synonymous_variant	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.207G>A	2.37:g.139308479G>A				Silent	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.L69	ENST00000280098.4	37	c.207	CCDS33298.1	2																																																																																			SPOPL	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.383	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	G			139308479	1	no_errors	ENST00000280098	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139308479	G	A	139308479	2	1	127	1	0	0	0	0	0	0	0	1	15115	1277	45	1		1	SPOPL	2	139308479	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	38684710	139308479	103890894	18	19650										
ZEB2	9839	genome.wustl.edu	37	chr2	145147383	145147383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtgccctttctcgcgcgcctCgcgctccgccgcttcccgct	10	21	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:145147383C>T	ENST00000558170.2	-	10	4464	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	cervix(1)											48	49	48					2																	145147383		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3280G>A	2.37:g.145147383C>T	ENSP00000454157:p.Glu1094Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1094K	ENST00000558170.2	37	c.3280	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.783312	0.96937	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14144	2.53;2.53;2.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;B;B	0.83275	0.996;0.444;0.444	T	0.08743	-1.0707	10	0.87932	D	0	-12.297	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1070;1093;1094	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1070;1094;1094	ENSP00000443792:E1070K;ENSP00000302501:E1094K;ENSP00000386854:E1094K	ENSP00000302501:E1094K	E	-	1	0	ZEB2	144863853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL		0.617	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147383	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145147383	C	T	145147383	3	4	127	1	0	0	0	0	1	0	0	0	17654	893	31	1	368	1	ZEB2	2	145147383	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	5838904	145147383	98051990	19	19651										
HOXD10	3236	genome.wustl.edu	37	chr2	176982180	176982180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agatgaacgagcccgtgagcGgccaggagcccaccaaagtc	13	13	0	3	rs148563899		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:176982180G>T	ENST00000249501.4	+	1	874	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	207					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCCGTGAGCGGCCAGGAGCC	0.652																																																	0																																										SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.619G>T	2.37:g.176982180G>T	ENSP00000249501:p.Gly207Cys		Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G207C	ENST00000249501.4	37	c.619	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321771	0.23994	.	.	ENSG00000128710	ENST00000249501	D	0.93811	-3.29	5.96	2.82	0.32997	.	0.565210	0.21573	N	0.072363	D	0.86648	0.5983	N	0.08118	0	0.24747	N	0.993006	B	0.27380	0.177	B	0.39840	0.311	T	0.79699	-0.1694	10	0.56958	D	0.05	.	7.4162	0.27047	0.4564:0.0:0.5436:0.0	.	207	P28358	HXD10_HUMAN	C	207	ENSP00000249501:G207C	ENSP00000249501:G207C	G	+	1	0	HOXD10	176690426	1.000000	0.71417	0.977000	0.42913	0.956000	0.61745	1.772000	0.38552	0.862000	0.35528	0.650000	0.86243	GGC	HOXD10	-	NULL		0.652	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	G			176982180	1	no_errors	ENST00000249501	ensembl	human	known	70_37	missense	SNP	0.889	T	T	176982180	G	T	176982180	3	4	127	1	0	0	0	0	1	0	0	0	7339	1116	39	2	621	2	HOXD10	2	176982180	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	31834797	176982180	66217193	20	19652										
TTN	7273	genome.wustl.edu	37	chr2	179604131	179604131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aaacagtgtccactaaaggtGtatgtatcatggggccatcc	10	9	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:179604131G>A	ENST00000591111.1	-	46	13102	c.12878C>T	c.(12877-12879)aCa>aTa	p.T4293I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T4247I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T4610I|TTN_ENST00000359218.5_Missense_Mutation_p.T4372I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T4439I			Q8WZ42	TITIN_HUMAN	titin	32504	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T4372I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTAAAGGTGTATGTATCAT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											147	134	138					2																	179604131		1947	4153	6100	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12878C>T	2.37:g.179604131G>A	ENSP00000465570:p.Thr4293Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T4439I	ENST00000591111.1	37	c.13316		2	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437257	0.04636	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67698	-0.28;-0.28;-0.28	5.93	-4.2	0.03823	.	.	.	.	.	T	0.52853	0.1760	L	0.60904	1.88	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.52223	-0.8604	9	0.87932	D	0	.	1.1421	0.01767	0.2009:0.255:0.142:0.4022	.	4247;4372;4439	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4247;4439;4372;4247	ENSP00000434586:T4247I;ENSP00000340554:T4439I;ENSP00000352154:T4372I	ENSP00000340554:T4439I	T	-	2	0	TTN	179312376	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.369000	0.07533	-0.373000	0.07979	0.655000	0.94253	ACA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179604131	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	missense	SNP	0.000	A	A	179604131	G	A	179604131	3	1	127	1	0	0	0	0	1	0	0	0	16766	1377	48	4	90960	4	TTN	2	179604131	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	2621951	179604131	63595242	21	19653										
TTN	7273	genome.wustl.edu	37	chr2	179641600	179641600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cctttgctctatatgtccccCgtgggatgattaactttctc	7	12	2	1	rs375029799		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:179641600C>T	ENST00000591111.1	-	28	5215	c.4991G>A	c.(4990-4992)cGg>cAg	p.R1664Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1618Q|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1664Q|TTN_ENST00000589042.1_Missense_Mutation_p.R1664Q|TTN_ENST00000360870.5_Missense_Mutation_p.R1664Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1618Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1618Q			Q8WZ42	TITIN_HUMAN	titin	12510			R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1618Q(4)|p.R1664L(3)|p.R1618L(3)|p.R1664Q(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGTCCCCCGTGGGATGAT	0.458																																																	13	Substitution - Missense(13)	cervix(6)|lung(6)|ovary(1)						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	74	69	71		4853,4991,4991,4853,4853	5.3	1	2		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1618/26927,1664/33424,1664/5605,1618/27052,1618/27119	179641600	1,13005	2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4991G>A	2.37:g.179641600C>T	ENSP00000465570:p.Arg1664Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R1664Q	ENST00000591111.1	37	c.4991		2	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034723	0.19590	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;0.01;-0.01;0.02;0.22	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.48003	0.1476	N	0.08118	0	0.22803	N	0.998717	P;P;P;P;D	0.62365	0.913;0.913;0.913;0.913;0.991	B;B;B;B;P	0.49708	0.129;0.129;0.129;0.129;0.62	T	0.39583	-0.9607	9	0.87932	D	0	.	6.9496	0.24538	0.0:0.7871:0.0:0.2129	.	1618;1618;1618;1664;1664	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1664;1618;1618;1618;1618;1664	ENSP00000343764:R1664Q;ENSP00000434586:R1618Q;ENSP00000340554:R1618Q;ENSP00000352154:R1618Q;ENSP00000354117:R1664Q	ENSP00000340554:R1618Q	R	-	2	0	TTN	179349845	1.000000	0.71417	0.997000	0.53966	0.587000	0.36485	2.590000	0.46154	2.518000	0.84900	0.650000	0.86243	CGG	TTN	-	superfamily_RNaseH-like_dom		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641600	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179641600	C	T	179641600	3	4	127	1	0	0	0	0	1	0	0	0	16766	652	23	2	106337	2	TTN	2	179641600	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	37469	179641600	63557773	22	19654										
STK17B	9262	genome.wustl.edu	37	chr2	197004445	197004445	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	acattaacttgagaaatattGaggtatgtttcttgattatc	7	4	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:197004445G>A	ENST00000263955.4	-	7	1021	c.735C>T	c.(733-735)ctC>ctT	p.L245L	STK17B_ENST00000409228.1_Silent_p.L245L	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L245L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAGAAATATTGAGGTATGTTT	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											107	109	108					2																	197004445		2203	4295	6498	SO:0001819	synonymous_variant	9262			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.735C>T	2.37:g.197004445G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L245	ENST00000263955.4	37	c.735	CCDS2315.1	2																																																																																			STK17B	-	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		0.348	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	HGNC	protein_coding	OTTHUMT00000256092.2	G			197004445	-1	no_errors	ENST00000263955	ensembl	human	known	70_37	silent	SNP	0.998	A	A	197004445	G	A	197004445	2	1	127	1	0	0	0	0	0	0	0	1	15321	1277	45	1		1	STK17B	2	197004445	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	17362845	197004445	46194928	23	19655										
KIAA1486	57624	genome.wustl.edu	37	chr2	226446723	226446723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcctcctcccaaaccgaagcGaaatccgaacactcagctga	6	16	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:226446723G>A	ENST00000272907.6	+	4	1003	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											119	124	122					2																	226446723		1929	4133	6062	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.590G>A	2.37:g.226446723G>A	ENSP00000272907:p.Arg197Gln		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.R197Q	ENST00000272907.6	37	c.590	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448812	0.84101	.	.	ENSG00000144460	ENST00000272907	T	0.72394	-0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86308	0.1684	10	0.72032	D	0.01	-27.5579	20.3541	0.98825	0.0:0.0:1.0:0.0	.	197	Q9P242	K1486_HUMAN	Q	197	ENSP00000272907:R197Q	ENSP00000272907:R197Q	R	+	2	0	KIAA1486	226154967	1.000000	0.71417	0.267000	0.24556	0.429000	0.31625	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	CGA	NYAP2	-	NULL		0.502	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	G	NM_020864		226446723	1	no_errors	ENST00000272907	ensembl	human	known	70_37	missense	SNP	0.888	A	A	226446723	G	A	226446723	3	1	127	1	0	0	0	0	1	0	0	0	8257	1058	37	1	600	1	KIAA1486	2	226446723	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	29442278	226446723	16752650	24	19656										
TRIP12	9320	genome.wustl.edu	37	chr2	230723835	230723835	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgctacacccagctttggctGaggtggctgattttgaagcc	12	10	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:230723835G>C	ENST00000283943.5	-	3	732	c.554C>G	c.(553-555)tCa>tGa	p.S185*	TRIP12_ENST00000409677.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000543084.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S227*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	185					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.S185*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCTTTGGCTGAGGTGGCTGA	0.522																																																	1	Substitution - Nonsense(1)	cervix(1)											59	53	55					2																	230723835		2203	4300	6503	SO:0001587	stop_gained	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.554C>G	2.37:g.230723835G>C	ENSP00000283943:p.Ser185*		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.S185*	ENST00000283943.5	37	c.554	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.669834	0.96754	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	.	.	.	X	185;227;227;227;55	.	ENSP00000283943:S185X	S	-	2	0	TRIP12	230432079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.704000	0.92352	0.563000	0.77884	TCA	TRIP12	-	NULL		0.522	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	G	NM_004238		230723835	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	230723835	G	C	230723835	4	2	127	1	0	0	0	0	0	1	0	0	16587	1294	45	1	5580	1	TRIP12	2	230723835	Nonsense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	4277112	230723835	12475538	25	19657										
COL6A3	1293	genome.wustl.edu	37	chr2	238267881	238267881	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cagaccatccagtccaatttCtcctacttcgccctaagagg	6	15	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:238267881C>G	ENST00000295550.4	-	19	6774	c.6322G>C	c.(6322-6324)Gaa>Caa	p.E2108Q	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1501Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1907Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1908Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1902Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1902Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2108	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E2108Q(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGTCCAATTTCTCCTACTTCG	0.408																																																	1	Substitution - Missense(1)	cervix(1)											94	95	95					2																	238267881		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6322G>C	2.37:g.238267881C>G	ENSP00000295550:p.Glu2108Gln		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E2108Q	ENST00000295550.4	37	c.6322	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127472	0.20959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.14	5.14	0.70334	.	0.000000	0.49916	D	0.000127	D	0.95746	0.8616	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.976	D	0.94393	0.7616	10	0.28530	T	0.3	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1501;1902;2108	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	2108;1907;1902;1501;1902;1908	ENSP00000295550:E2108Q;ENSP00000315609:E1907Q;ENSP00000315873:E1902Q;ENSP00000418285:E1501Q;ENSP00000386844:E1902Q;ENSP00000295546:E1908Q	ENSP00000295550:E2108Q	E	-	1	0	COL6A3	237932620	1.000000	0.71417	0.569000	0.28460	0.055000	0.15305	7.060000	0.76692	2.398000	0.81561	0.655000	0.94253	GAA	COL6A3	-	NULL		0.408	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238267881	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	G	G	238267881	C	G	238267881	3	3	127	1	0	0	0	0	1	0	0	0	3706	922	32	1	3315	1	COL6A3	2	238267881	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	7544046	238267881	4931492	26	19658										
COL6A3	1293	genome.wustl.edu	37	chr2	238274445	238274445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gcgcatgttccggaacttctCgagcatctctggctggtact	11	12	2	0	rs113251155		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:238274445C>G	ENST00000295550.4	-	12	6186	c.5734G>C	c.(5734-5736)Gag>Cag	p.E1912Q	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1305Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1711Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1712Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1706Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1706Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1912	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E1912Q(1)|p.E1912K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGAACTTCTCGAGCATCTCT	0.632																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											81	76	77					2																	238274445		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5734G>C	2.37:g.238274445C>G	ENSP00000295550:p.Glu1912Gln		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E1912Q	ENST00000295550.4	37	c.5734	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962642	0.34659	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.404453	0.20607	N	0.089045	T	0.45458	0.1343	L	0.32530	0.975	0.44539	D	0.997492	D;D;D	0.89917	0.996;1.0;0.997	P;D;P	0.73708	0.868;0.981;0.806	T	0.09509	-1.0671	10	0.20519	T	0.43	.	12.7377	0.57234	0.0:0.9246:0.0:0.0754	.	1305;1706;1912	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	1912;1711;1706;1305;1706;1712	ENSP00000295550:E1912Q;ENSP00000315609:E1711Q;ENSP00000315873:E1706Q;ENSP00000418285:E1305Q;ENSP00000386844:E1706Q;ENSP00000295546:E1712Q	ENSP00000295550:E1912Q	E	-	1	0	COL6A3	237939184	0.998000	0.40836	0.981000	0.43875	0.686000	0.39977	3.641000	0.54360	2.665000	0.90641	0.655000	0.94253	GAG	COL6A3	-	smart_VWF_A,pfscan_VWF_A		0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238274445	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.997	G	G	238274445	C	G	238274445	3	3	127	1	0	0	0	0	1	0	0	0	3706	893	31	1	3931	1	COL6A3	2	238274445	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	6564	238274445	4924928	27	19659										
OR6B2	389090	genome.wustl.edu	37	chr2	240969469	240969469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tggtagcgcagcgggtggcaGatggccacgtagcggtcgta	18	9	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr2:240969469G>C	ENST00000402971.2	-	1	437	c.378C>G	c.(376-378)atC>atG	p.I126M		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCGGGTGGCAGATGGCCACGT	0.612																																																	0													8	8	8					2																	240969469		1786	4003	5789	SO:0001583	missense	389090				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.378C>G	2.37:g.240969469G>C	ENSP00000384563:p.Ile126Met		B2RPR3|Q8NGW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I126M	ENST00000402971.2	37	c.378	CCDS46559.1	2	.	.	.	.	.	.	.	.	.	.	g	11.26	1.586008	0.28268	.	.	ENSG00000182083	ENST00000402971	T	0.59083	0.29	4.29	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.142100	0.32055	N	0.006654	T	0.82185	0.4982	H	0.98466	4.24	0.31078	N	0.712231	D	0.76494	0.999	D	0.69824	0.966	T	0.82957	-0.0199	10	0.87932	D	0	.	9.5705	0.39425	0.0:0.0:0.4969:0.5031	.	126	Q6IFH4	OR6B2_HUMAN	M	126	ENSP00000384563:I126M	ENSP00000384563:I126M	I	-	3	3	OR6B2	240618142	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	1.022000	0.30052	1.112000	0.41740	-0.282000	0.10007	ATC	OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	G	NM_001005853		240969469	-1	no_errors	ENST00000402971	ensembl	human	known	70_37	missense	SNP	1.000	C	C	240969469	G	C	240969469	3	2	127	1	0	0	0	0	1	0	0	0	11212	932	33	1	562	1	OR6B2	2	240969469	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	2695024	240969469	2229904	28	19660										
SLC22A13	9390	genome.wustl.edu	37	chr3	38316945	38316945	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	atccagaaggcggcctcggtCaataggcggaaactctcccc	11	14	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:38316945C>G	ENST00000311856.4	+	5	940	c.891C>G	c.(889-891)gtC>gtG	p.V297V	SLC22A13_ENST00000450935.2_Missense_Mutation_p.Q205E	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	297					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.V297V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CGGCCTCGGTCAATAGGCGGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											65	65	65					3																	38316945		2203	4300	6503	SO:0001819	synonymous_variant	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.891C>G	3.37:g.38316945C>G			B2RCV9|Q8IYG1	Missense_Mutation	SNP	NULL	p.Q205E	ENST00000311856.4	37	c.613	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253773	0.22965	.	.	ENSG00000172940	ENST00000450935	T	0.52295	0.67	4.84	1.74	0.24563	.	.	.	.	.	T	0.50411	0.1614	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	T	0.46582	-0.9181	6	0.87932	D	0	.	10.4113	0.44294	0.1316:0.4606:0.4078:0.0	.	.	.	.	E	205	ENSP00000406929:Q205E	ENSP00000395106:Q231E	Q	+	1	0	SLC22A13	38291949	0.001000	0.12720	0.340000	0.25575	0.304000	0.27724	-0.504000	0.06375	0.522000	0.28464	0.655000	0.94253	CAA	SLC22A13	-	NULL		0.612	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	C	NM_004256		38316945	1	no_errors	ENST00000450935	ensembl	human	known	70_37	missense	SNP	0.527	G	G	38316945	C	G	38316945	2	3	127	1	0	0	0	0	0	0	0	1	14474	813	29	1		1	SLC22A13	3	38316945	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		38316945	159705485	29	19661										
ZPLD1	131368	genome.wustl.edu	37	chr3	102183077	102183077	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aaacccaaatgatgacattcGatatgatcttttccttaggt	6	8	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:102183077G>C	ENST00000491959.1	+	14	1625	c.743G>C	c.(742-744)cGa>cCa	p.R248P	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R248P|ZPLD1_ENST00000306176.1_Missense_Mutation_p.R264P			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	248	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.R264Q(1)|p.R264P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GATGACATTCGATATGATCTT	0.323																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											190	185	187					3																	102183077		2203	4300	6503	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.743G>C	3.37:g.102183077G>C	ENSP00000420265:p.Arg248Pro		Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	p.R264P	ENST00000491959.1	37	c.791		3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158788	0.78226	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.83250	-1.7;-1.7;-1.7	5.6	5.6	0.85130	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.90435	0.7005	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.977	D	0.90610	0.4551	10	0.66056	D	0.02	-3.4553	19.6097	0.95600	0.0:0.0:1.0:0.0	.	264;248	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	P	248;264;248	ENSP00000420265:R248P;ENSP00000307801:R264P;ENSP00000418253:R248P	ENSP00000307801:R264P	R	+	2	0	ZPLD1	103665767	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	9.848000	0.99507	2.630000	0.89119	0.591000	0.81541	CGA	ZPLD1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.323	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	G	NM_175056		102183077	1	no_errors	ENST00000306176	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102183077	G	C	102183077	3	2	127	1	0	0	0	0	1	0	0	0	18251	1058	37	1	817	1	ZPLD1	3	102183077	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	63866132	102183077	95839353	30	19662										
ALCAM	214	genome.wustl.edu	37	chr3	105266097	105266097	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caggaggttgaaggactaaaGaaaagagagtcattgactct	12	5	2	4			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:105266097G>C	ENST00000306107.5	+	10	1709	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	ALCAM_ENST00000486979.2_Missense_Mutation_p.K352N|ALCAM_ENST00000389927.4_Missense_Mutation_p.K125N|ALCAM_ENST00000472644.2_Missense_Mutation_p.K403N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	403	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.K403N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGACTAAAGAAAAGAGAGT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											65	68	67					3																	105266097		2202	4297	6499	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1209G>C	3.37:g.105266097G>C	ENSP00000305988:p.Lys403Asn		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.K403N	ENST00000306107.5	37	c.1209	CCDS33810.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.617281|2.617281	0.46736|0.46736	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000465413|ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;2.58	5.47|5.47	4.6|4.6	0.57074|0.57074	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.460397	.|0.26307	.|N	.|0.025125	T|T	0.18882|0.18882	0.0453|0.0453	L|L	0.43152|0.43152	1.355|1.355	0.52099|0.52099	D|D	0.99994|0.99994	.|P;P;P	.|0.47484	.|0.896;0.896;0.896	.|P;P;P	.|0.51550	.|0.673;0.673;0.673	T|T	0.01516|0.01516	-1.1335|-1.1335	5|10	.|0.33141	.|T	.|0.24	-12.5993|-12.5993	10.5977|10.5977	0.45347|0.45347	0.1471:0.0:0.8529:0.0|0.1471:0.0:0.8529:0.0	.|.	.|125;403;403	.|Q6ZS95;B4DTU0;Q13740	.|.;.;CD166_HUMAN	Q|N	164|403;403;352;125	.|ENSP00000305988:K403N;ENSP00000419236:K403N;ENSP00000418213:K352N;ENSP00000374577:K125N	.|ENSP00000305988:K403N	E|K	+|+	1|3	0|2	ALCAM|ALCAM	106748787|106748787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.226000|3.226000	0.51254|0.51254	1.450000|1.450000	0.47717|0.47717	0.591000|0.591000	0.81541|0.81541	GAA|AAG	ALCAM	-	smart_Ig_sub,pfscan_Ig-like		0.378	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	G	NM_001627		105266097	1	no_errors	ENST00000306107	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105266097	G	C	105266097	3	2	127	1	0	0	0	0	1	0	0	0	487	933	33	1	1247	1	ALCAM	3	105266097	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	3083020	105266097	92756333	31	19663										
UMPS	7372	genome.wustl.edu	37	chr3	124461011	124461011	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccatttaggttagaatggctGaggagcactctgaatttgtt	11	6	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:124461011G>A	ENST00000232607.2	+	5	1277	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	UMPS_ENST00000536109.1_Missense_Mutation_p.E299K|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Missense_Mutation_p.E213K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	391	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.E391K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	TAGAATGGCTGAGGAGCACTC	0.348																																																	1	Substitution - Missense(1)	cervix(1)											197	201	200					3																	124461011		2203	4300	6503	SO:0001583	missense	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1171G>A	3.37:g.124461011G>A	ENSP00000232607:p.Glu391Lys		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom	p.E391K	ENST00000232607.2	37	c.1171	CCDS3029.1	3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230021	0.58777	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242	T;T;T	0.62498	0.02;0.02;0.02	5.93	5.06	0.68205	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049066	0.85682	D	0.000000	T	0.51092	0.1654	L	0.37800	1.135	0.80722	D	1	P;B	0.46142	0.873;0.109	B;B	0.41813	0.367;0.063	T	0.45891	-0.9230	10	0.14252	T	0.57	-18.1292	13.4166	0.60972	0.0723:0.0:0.9277:0.0	.	213;391	B5LY70;P11172	.;UMPS_HUMAN	K	391;299;213	ENSP00000232607:E391K;ENSP00000443577:E299K;ENSP00000444988:E213K	ENSP00000232607:E391K	E	+	1	0	UMPS	125943701	1.000000	0.71417	0.937000	0.37676	0.953000	0.61014	7.249000	0.78278	1.523000	0.49018	0.655000	0.94253	GAG	UMPS	-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase		0.348	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	G	NM_000373		124461011	1	no_errors	ENST00000232607	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124461011	G	A	124461011	3	1	127	1	0	0	0	0	1	0	0	0	17012	1291	45	1	1189	1	UMPS	3	124461011	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	19194914	124461011	73561419	32	19664										
PODXL2	50512	genome.wustl.edu	37	chr3	127381124	127381124	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctggctgggaaaaactacatCattctgaacatgacagagaa	9	8	2	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:127381124C>G	ENST00000342480.6	+	4	1215	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	AC023593.1_ENST00000408486.1_RNA	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	392					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.I392M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AAAACTACATCATTCTGAACA	0.552																																																	1	Substitution - Missense(1)	cervix(1)											92	76	81					3																	127381124		2203	4300	6503	SO:0001583	missense	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1176C>G	3.37:g.127381124C>G	ENSP00000345359:p.Ile392Met		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin	p.I392M	ENST00000342480.6	37	c.1176	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095724	0.56075	.	.	ENSG00000114631	ENST00000342480	T	0.33865	1.39	5.06	3.23	0.37069	.	0.275863	0.35067	N	0.003469	T	0.29355	0.0731	L	0.32530	0.975	0.32205	N	0.577247	P	0.50272	0.933	P	0.45577	0.486	T	0.41556	-0.9502	10	0.72032	D	0.01	-7.2772	7.829	0.29332	0.1332:0.7182:0.0:0.1486	.	392	Q9NZ53	PDXL2_HUMAN	M	392	ENSP00000345359:I392M	ENSP00000345359:I392M	I	+	3	3	PODXL2	128863814	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.887000	0.28254	1.253000	0.44018	0.591000	0.81541	ATC	PODXL2	-	NULL		0.552	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	C	NM_015720		127381124	1	no_errors	ENST00000342480	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127381124	C	G	127381124	3	3	127	1	0	0	0	0	1	0	0	0	12205	816	29	1	1190	1	PODXL2	3	127381124	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	2920113	127381124	70641306	33	19665										
MED12L	116931	genome.wustl.edu	37	chr3	151107867	151107867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caccttgtggggttacaaccTcgtgggccagccccagcagc	12	15	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:151107867T>A	ENST00000474524.1	+	36	5485	c.5447T>A	c.(5446-5448)cTc>cAc	p.L1816H	MED12L_ENST00000273432.4_Missense_Mutation_p.L1676H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1816						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L1816H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTACAACCTCGTGGGCCAG	0.502																																																	1	Substitution - Missense(1)	cervix(1)											173	181	178					3																	151107867		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5447T>A	3.37:g.151107867T>A	ENSP00000417235:p.Leu1816His		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L1816H	ENST00000474524.1	37	c.5447	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176027	0.57692	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61392	0.37;0.11	5.86	5.86	0.93980	.	0.400535	0.25042	N	0.033594	T	0.53706	0.1813	N	0.22421	0.69	0.37152	D	0.90219	D;D	0.61697	0.99;0.97	P;P	0.50192	0.634;0.608	T	0.64702	-0.6345	10	0.87932	D	0	-17.5245	14.4967	0.67694	0.0:0.0:0.0:1.0	.	1676;1816	F8WAE6;Q86YW9	.;MD12L_HUMAN	H	1816;1676	ENSP00000417235:L1816H;ENSP00000273432:L1676H	ENSP00000273432:L1676H	L	+	2	0	MED12L	152590557	0.999000	0.42202	0.945000	0.38365	0.585000	0.36419	3.781000	0.55394	2.240000	0.73641	0.533000	0.62120	CTC	MED12L	-	NULL		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	T	NM_053002		151107867	1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	0.981	A	A	151107867	T	A	151107867	3	1	127	1	0	0	0	0	1	0	0	0	9452	1551	54	5	5589	5	MED12L	3	151107867	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	23726743	151107867	46914563	34	19666										
TNIK	23043	genome.wustl.edu	37	chr3	170828505	170828505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggtaagagaaagttttacctCgaactctggtgcgttcactg	11	8	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:170828505C>T	ENST00000436636.2	-	19	2626	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q	TNIK_ENST00000341852.6_Missense_Mutation_p.R677Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R732Q|TNIK_ENST00000460047.1_Missense_Mutation_p.R706Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R732Q|TNIK_ENST00000538048.1_Missense_Mutation_p.R706Q|TNIK_ENST00000470834.1_Missense_Mutation_p.R732Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R706Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R761Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R677Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	761	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R761Q(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGTTTTACCTCGAACTCTGGT	0.547																																																	2	Substitution - Missense(2)	cervix(2)											43	45	44					3																	170828505		1975	4168	6143	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2282G>A	3.37:g.170828505C>T	ENSP00000399511:p.Arg761Gln		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R761Q	ENST00000436636.2	37	c.2282	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.990034	0.93106	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	6.17	6.17	0.99709	.	0.136497	0.48767	D	0.000163	T	0.31263	0.0791	M	0.68593	2.085	0.47862	D	0.999533	D;D;D;D;D;D;D;D	0.67145	0.978;0.986;0.978;0.978;0.996;0.986;0.978;0.993	P;P;P;P;P;P;P;P	0.59546	0.455;0.696;0.455;0.455;0.859;0.787;0.455;0.727	T	0.00048	-1.2204	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	677;732;706;677;761;732;706;761	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	761;732;706;677;761;677;732;706;706;732	ENSP00000399511:R761Q;ENSP00000358332:R732Q;ENSP00000443278:R706Q;ENSP00000345352:R677Q;ENSP00000284483:R761Q;ENSP00000418156:R677Q;ENSP00000349880:R732Q;ENSP00000418916:R706Q;ENSP00000418378:R706Q;ENSP00000419990:R732Q	ENSP00000284483:R761Q	R	-	2	0	TNIK	172311199	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.153000	0.58118	2.941000	0.99782	0.655000	0.94253	CGA	TNIK	-	NULL		0.547	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170828505	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170828505	C	T	170828505	3	4	127	1	0	0	0	0	1	0	0	0	16343	884	31	1	1860	1	TNIK	3	170828505	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	19720638	170828505	27193925	35	19667										
FNDC3B	64778	genome.wustl.edu	37	chr3	172058910	172058910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcttgttttacagcgaatcaGtgggaagtggcctacagtgg	13	7	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:172058910G>A	ENST00000336824.4	+	17	1959	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	FNDC3B_ENST00000415807.2_Silent_p.Q620Q|FNDC3B_ENST00000416957.1_Silent_p.Q620Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	620	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.Q620Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CAGCGAATCAGTGGGAAGTGG	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											161	143	149					3																	172058910		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1860G>A	3.37:g.172058910G>A			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q620	ENST00000336824.4	37	c.1860	CCDS3217.1	3																																																																																			FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	G	NM_022763		172058910	1	no_errors	ENST00000336824	ensembl	human	known	70_37	silent	SNP	1.000	A	A	172058910	G	A	172058910	2	1	127	1	0	0	0	0	0	0	0	1	5988	1020	36	4		4	FNDC3B	3	172058910	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	1230405	172058910	25963520	36	19668										
TP63	8626	genome.wustl.edu	37	chr3	189585726	189585726	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	atcattgttactctggaaacCagagagtaagtggcgtatgt	11	6	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr3:189585726C>A	ENST00000264731.3	+	7	1076	c.987C>A	c.(985-987)acC>acA	p.T329T	TP63_ENST00000440651.2_Silent_p.T329T|TP63_ENST00000392461.3_Silent_p.T235T|TP63_ENST00000449992.1_Silent_p.T150T|TP63_ENST00000456148.1_Silent_p.T235T|TP63_ENST00000382063.4_Silent_p.T244T|TP63_ENST00000418709.2_Silent_p.T329T|TP63_ENST00000354600.5_Silent_p.T235T|TP63_ENST00000320472.5_Silent_p.T329T|TP63_ENST00000437221.1_Silent_p.T235T|TP63_ENST00000392463.2_Silent_p.T235T|TP63_ENST00000392460.3_Silent_p.T329T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	329					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.T329T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCTGGAAACCAGAGAGTAAG	0.403										HNSCC(45;0.13)																																							1	Substitution - coding silent(1)	cervix(1)											76	69	72					3																	189585726		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.987C>A	3.37:g.189585726C>A			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.T329	ENST00000264731.3	37	c.987	CCDS3293.1	3																																																																																			TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	C	NM_003722		189585726	1	no_errors	ENST00000264731	ensembl	human	known	70_37	silent	SNP	1.000	A	A	189585726	C	A	189585726	2	1	127	1	0	0	0	0	0	0	0	1	16423	581	21	4		4	TP63	3	189585726	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	17526816	189585726	8436704	37	19669										
APBB2	323	genome.wustl.edu	37	chr4	41016329	41016329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcggaggttaagggtgtttgGtggtgtggctgggctgttcc	19	5	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:41016329G>T	ENST00000295974.8	-	6	735	c.106C>A	c.(106-108)Cca>Aca	p.P36T	APBB2_ENST00000506352.1_Missense_Mutation_p.P36T|APBB2_ENST00000508593.1_Missense_Mutation_p.P36T|APBB2_ENST00000513140.1_Missense_Mutation_p.P36T	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	36					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.P36T(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGGGTGTTTGGTGGTGTGGCT	0.483																																					Ovarian(3;20 75 16686 49997)												1	Substitution - Missense(1)	cervix(1)											165	163	163					4																	41016329		2038	4194	6232	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.106C>A	4.37:g.41016329G>T	ENSP00000295974:p.Pro36Thr		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.P36T	ENST00000295974.8	37	c.106	CCDS54761.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.26|19.26	3.792753|3.792753	0.70452|0.70452	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000509446;ENST00000508707;ENST00000503264|ENST00000513611	T;T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9;1.9|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59985|0.59985	0.2234|0.2234	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.991;0.999;0.999;0.999|.	T|T	0.54268|0.54268	-0.8319|-0.8319	10|5	0.66056|.	D|.	0.02|.	-12.8813|-12.8813	19.1575|19.1575	0.93517|0.93517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19;36;36;36|.	B4DJ88;E9PG87;Q92870-2;Q92870|.	.;.;.;APBB2_HUMAN|.	T|N	36;35;36;36;36;19;36;19|25	ENSP00000295974:P36T;ENSP00000426018:P36T;ENSP00000427211:P36T;ENSP00000421539:P36T;ENSP00000424414:P19T;ENSP00000424579:P36T|.	ENSP00000295974:P36T|.	P|T	-|-	1|2	0|0	APBB2|APBB2	40711086|40711086	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.566000|0.566000	0.35808|0.35808	9.827000|9.827000	0.99397|0.99397	2.537000|2.537000	0.85549|0.85549	0.561000|0.561000	0.74099|0.74099	CCA|ACC	APBB2	-	NULL		0.483	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	G	NM_173075		41016329	-1	no_errors	ENST00000295974	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41016329	G	T	41016329	3	4	127	1	0	0	0	0	1	0	0	0	761	1261	44	4	2225	4	APBB2	4	41016329	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		41016329	150137947	38	19670										
PPAT	5471	genome.wustl.edu	37	chr4	57273828	57273828	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aaatttaccttgtgtgatttGaatgttggcaccgaactccc	8	9	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:57273828G>C	ENST00000264220.2	-	2	320	c.183C>G	c.(181-183)ttC>ttG	p.F61L	PPAT_ENST00000507648.1_5'UTR|AC068620.1_ENST00000598320.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	61	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.F61L(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TGTGTGATTTGAATGTTGGCA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											151	124	133					4																	57273828		2203	4300	6503	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.183C>G	4.37:g.57273828G>C	ENSP00000264220:p.Phe61Leu			Missense_Mutation	SNP	pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.F61L	ENST00000264220.2	37	c.183	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974471	0.34848	.	.	ENSG00000128059	ENST00000264220	T	0.74632	-0.86	5.26	3.5	0.40072	Glutamine amidotransferase, type II (1);	0.158705	0.56097	D	0.000023	T	0.62502	0.2433	L	0.35644	1.08	0.49389	D	0.999782	B	0.02656	0.0	B	0.08055	0.003	T	0.59632	-0.7418	10	0.48119	T	0.1	-13.8624	9.458	0.38767	0.2232:0.0:0.7768:0.0	.	61	Q06203	PUR1_HUMAN	L	61	ENSP00000264220:F61L	ENSP00000264220:F61L	F	-	3	2	PPAT	56968585	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	3.628000	0.54259	1.189000	0.43028	0.591000	0.81541	TTC	PPAT	-	pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans		0.428	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	HGNC	protein_coding	OTTHUMT00000250781.2	G	NM_002703		57273828	-1	no_errors	ENST00000264220	ensembl	human	known	70_37	missense	SNP	0.992	C	C	57273828	G	C	57273828	3	2	127	1	0	0	0	0	1	0	0	0	12326	1281	45	1	1410	1	PPAT	4	57273828	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	16257499	57273828	133880448	39	19671										
C4orf35	85438	genome.wustl.edu	37	chr4	71201722	71201722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gctgttgaatccagatatgaCttcgttgtccctgcatcaat	8	10	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:71201722C>T	ENST00000273936.5	+	1	1040	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	322					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.D322D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGATATGACTTCGTTGTCC	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											111	100	104					4																	71201722		2203	4300	6503	SO:0001819	synonymous_variant	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.966C>T	4.37:g.71201722C>T			B2RCB5|Q86UE0|Q96M17	Silent	SNP	NULL	p.D322	ENST00000273936.5	37	c.966	CCDS3539.1	4																																																																																			CABS1	-	NULL		0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	CABS1	HGNC	protein_coding	OTTHUMT00000251561.3	C	NM_033122		71201722	1	no_errors	ENST00000273936	ensembl	human	known	70_37	silent	SNP	0.954	T	T	71201722	C	T	71201722	2	4	127	1	0	0	0	0	0	0	0	1	2270	564	20	4		4	C4orf35	4	71201722	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	13927894	71201722	119952554	40	19672										
NUP54	53371	genome.wustl.edu	37	chr4	77051823	77051823	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gcttacatctaatctggtttGatgctgcttagtcatctgat	8	8	4	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:77051823G>A	ENST00000264883.3	-	8	1182	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q300*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.Q168*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.Q168*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	348	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.Q348*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCTGGTTTGATGCTGCTTA	0.388																																																	1	Substitution - Nonsense(1)	cervix(1)											94	74	81					4																	77051823		2203	4300	6503	SO:0001587	stop_gained	53371			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1042C>T	4.37:g.77051823G>A	ENSP00000264883:p.Gln348*		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Nonsense_Mutation	SNP	NULL	p.Q348*	ENST00000264883.3	37	c.1042	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.310417	0.98203	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.6896	19.5275	0.95212	0.0:0.0:1.0:0.0	.	.	.	.	X	348;168;300;168	.	ENSP00000264883:Q348X	Q	-	1	0	NUP54	77270847	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.363000	0.97131	2.616000	0.88540	0.563000	0.77884	CAA	NUP54	-	NULL		0.388	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	HGNC	protein_coding	OTTHUMT00000252402.3	G			77051823	-1	no_errors	ENST00000264883	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	77051823	G	A	77051823	4	1	127	1	0	0	0	0	0	1	0	0	10791	1299	45	1	501	1	NUP54	4	77051823	Nonsense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	5850101	77051823	114102453	41	19673										
FRAS1	80144	genome.wustl.edu	37	chr4	79440596	79440596	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tggagcaccacaccgagatgGagttttctttcttctatgac	9	10	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:79440596G>C	ENST00000264895.6	+	67	10941	c.10501G>C	c.(10501-10503)Gag>Cag	p.E3501Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3497					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E3501Q(1)|p.E3502Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCGAGATGGAGTTTTCTTT	0.498																																																	2	Substitution - Missense(2)	cervix(2)											200	199	199					4																	79440596		1927	4136	6063	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10501G>C	4.37:g.79440596G>C	ENSP00000264895:p.Glu3501Gln		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E3501Q	ENST00000264895.6	37	c.10501	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.999847|2.999847	0.54147|0.54147	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.13901|.	2.55|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68522|0.68522	0.3010|0.3010	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.63708|0.63708	-0.6576|-0.6576	10|5	0.46703|.	T|.	0.11|.	.|.	19.5023|19.5023	0.95100|0.95100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3501|.	E9PHH6|.	.|.	Q|A	3501|1729	ENSP00000264895:E3501Q|.	ENSP00000264895:E3501Q|.	E|G	+|+	1|2	0|0	FRAS1|FRAS1	79659620|79659620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.031000|0.031000	0.12232|0.12232	9.334000|9.334000	0.96470|0.96470	2.605000|2.605000	0.88082|0.88082	0.591000|0.591000	0.81541|0.81541	GAG|GGA	FRAS1	-	NULL		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79440596	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79440596	G	C	79440596	3	2	127	1	0	0	0	0	1	0	0	0	6060	1175	41	1	10842	1	FRAS1	4	79440596	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	2388773	79440596	111713680	42	19674										
MMRN1	22915	genome.wustl.edu	37	chr4	90816360	90816360	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cttctgaagacagtcttcttAaatcaacactgcctccctca	4	14	5	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:90816360A>C	ENST00000394980.1	+	2	557	c.238A>C	c.(238-240)Aaa>Caa	p.K80Q	MMRN1_ENST00000264790.2_Missense_Mutation_p.K80Q|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	80					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.K80Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGTCTTCTTAAATCAACACT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											66	66	66					4																	90816360		2203	4300	6503	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.238A>C	4.37:g.90816360A>C	ENSP00000378431:p.Lys80Gln		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.K80Q	ENST00000394980.1	37	c.238	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	1.636	-0.517801	0.04171	.	.	ENSG00000138722	ENST00000394980;ENST00000264790	T;T	0.61980	0.06;0.06	4.67	2.43	0.29744	.	0.540328	0.16403	N	0.215951	T	0.45236	0.1332	L	0.38175	1.15	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.29731	-1.0002	10	0.02654	T	1	.	10.9411	0.47275	0.6025:0.3975:0.0:0.0	.	80	Q13201	MMRN1_HUMAN	Q	80	ENSP00000378431:K80Q;ENSP00000264790:K80Q	ENSP00000264790:K80Q	K	+	1	0	MMRN1	91035383	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.398000	0.20899	0.092000	0.17331	-1.783000	0.00646	AAA	MMRN1	-	NULL		0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	A	NM_007351		90816360	1	no_errors	ENST00000264790	ensembl	human	known	70_37	missense	SNP	0.005	C	C	90816360	A	C	90816360	3	2	127	1	0	0	0	0	1	0	0	0	9693	363	13	5	240	5	MMRN1	4	90816360	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	11375764	90816360	100337916	43	19675										
SEC24D	9871	genome.wustl.edu	37	chr4	119736623	119736623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	taccctgctgcggaggatatCcagcacccaaggtctggcct	11	14	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:119736623C>A	ENST00000280551.6	-	5	894	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_ENST00000379735.5_Missense_Mutation_p.G219V|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	219	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.G219V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557																																																	1	Substitution - Missense(1)	cervix(1)											79	76	77					4																	119736623		2203	4300	6503	SO:0001583	missense	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.656G>T	4.37:g.119736623C>A	ENSP00000280551:p.Gly219Val		Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.G219V	ENST00000280551.6	37	c.656	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093159	0.56075	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.24723	1.84;1.84	5.71	5.71	0.89125	.	0.050011	0.85682	D	0.000000	T	0.53302	0.1788	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	T	0.47636	-0.9102	10	0.30078	T	0.28	-7.2849	16.7742	0.85546	0.0:1.0:0.0:0.0	.	219;219	O94855-2;O94855	.;SC24D_HUMAN	V	219	ENSP00000280551:G219V;ENSP00000369059:G219V	ENSP00000280551:G219V	G	-	2	0	SEC24D	119956071	0.996000	0.38824	0.815000	0.32552	0.326000	0.28443	2.926000	0.48892	2.701000	0.92244	0.655000	0.94253	GGA	SEC24D	-	NULL		0.557	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	C			119736623	-1	no_errors	ENST00000379735	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119736623	C	A	119736623	3	1	127	1	0	0	0	0	1	0	0	0	14027	855	30	3	2518	3	SEC24D	4	119736623	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	28920263	119736623	71417653	44	19676										
FAT4	79633	genome.wustl.edu	37	chr4	126371183	126371183	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gttggtacgaagttaatcagAgttacagcaatagatgacaa	10	5	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:126371183A>T	ENST00000394329.3	+	9	9025	c.9012A>T	c.(9010-9012)agA>agT	p.R3004S	FAT4_ENST00000335110.5_Missense_Mutation_p.R1302S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3004	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3004S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTTAATCAGAGTTACAGCAA	0.313																																																	2	Substitution - Missense(2)	cervix(2)											60	63	62					4																	126371183		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9012A>T	4.37:g.126371183A>T	ENSP00000377862:p.Arg3004Ser		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3004S	ENST00000394329.3	37	c.9012	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	6.577	0.474787	0.12521	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01665	4.7;4.7	5.81	2.17	0.27698	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002566	T	0.01454	0.0047	L	0.27944	0.81	0.20563	N	0.999882	B;B;B	0.28584	0.034;0.216;0.18	B;B;B	0.30105	0.036;0.111;0.068	T	0.50004	-0.8878	10	0.16896	T	0.51	.	8.1616	0.31202	0.711:0.0:0.289:0.0	.	1302;3004;3004	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3004;1302	ENSP00000377862:R3004S;ENSP00000335169:R1302S	ENSP00000335169:R1302S	R	+	3	2	FAT4	126590633	1.000000	0.71417	0.834000	0.33040	0.008000	0.06430	1.693000	0.37742	0.479000	0.27511	0.533000	0.62120	AGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.313	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126371183	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126371183	A	T	126371183	3	4	127	1	0	0	0	0	1	0	0	0	5710	301	11	5	9046	5	FAT4	4	126371183	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	6634560	126371183	64783093	45	19677										
MFSD8	256471	genome.wustl.edu	37	chr4	128886250	128886250	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cttccaggtgtgtcgcctaaGagcggctcctgttcactttc	10	13	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:128886250G>C	ENST00000296468.3	-	2	166	c.39C>G	c.(37-39)ctC>ctG	p.L13L	MFSD8_ENST00000515130.1_5'UTR|C4orf29_ENST00000388795.5_5'Flank|C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000513559.1_Intron|C4orf29_ENST00000398965.1_5'Flank|MFSD8_ENST00000541133.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	13					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.L13L(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGTCGCCTAAGAGCGGCTCCT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67	61	63					4																	128886250		2203	4300	6503	SO:0001819	synonymous_variant	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.39C>G	4.37:g.128886250G>C			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L13	ENST00000296468.3	37	c.39	CCDS3736.1	4																																																																																			MFSD8	-	NULL		0.622	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	G	NM_152778		128886250	-1	no_errors	ENST00000296468	ensembl	human	known	70_37	silent	SNP	0.007	C	C	128886250	G	C	128886250	2	2	127	1	0	0	0	0	0	0	0	1	9561	929	33	1		1	MFSD8	4	128886250	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	2515067	128886250	62268026	46	19678										
OTUD4	54726	genome.wustl.edu	37	chr4	146058813	146058813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgattatagaactgcttggaTctaccacttctcaaaatatt	5	8	2	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr4:146058813T>A	ENST00000447906.2	-	21	3301	c.3114A>T	c.(3112-3114)agA>agT	p.R1038S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.R973S			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1038					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R972S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGCTTGGATCTACCACTTC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											193	196	195					4																	146058813		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3114A>T	4.37:g.146058813T>A	ENSP00000395487:p.Arg1038Ser		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R1038S	ENST00000447906.2	37	c.3114		4	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935512	0.52866	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.57107	0.46;0.42	6.17	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.58409	0.2120	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.61132	0.884;0.655	T	0.61729	-0.7003	10	0.87932	D	0	-13.7466	12.9168	0.58211	0.0:0.0:0.2554:0.7446	.	1038;1037	G3V0I6;Q01804	.;OTUD4_HUMAN	S	973;1038	ENSP00000409279:R973S;ENSP00000395487:R1038S	ENSP00000395487:R1038S	R	-	3	2	OTUD4	146278263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.129000	0.31381	1.135000	0.42183	0.533000	0.62120	AGA	OTUD4	-	NULL		0.418	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	T	NM_017493		146058813	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146058813	T	A	146058813	3	1	127	1	0	0	0	0	1	0	0	0	11338	1432	50	5	234	5	OTUD4	4	146058813	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	17172563	146058813	45095463	47	19679										
FYB	2533	genome.wustl.edu	37	chr5	39126186	39126186	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcttttccctttaacatcttCaaaatcccccaggaccacgt	3	15	3	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:39126186C>G	ENST00000351578.6	-	11	2098				FYB_ENST00000512982.1_Missense_Mutation_p.L653F|FYB_ENST00000505428.1_Missense_Mutation_p.L653F|FYB_ENST00000540520.1_Missense_Mutation_p.L663F|FYB_ENST00000515010.1_Intron	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.L653F(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTAACATCTTCAAAATCCCCC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											137	123	128					5																	39126186		1889	4122	6011	SO:0001627	intron_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1907+1656G>C	5.37:g.39126186C>G			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.L663F	ENST00000351578.6	37	c.1989	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993063	0.74703	.	.	ENSG00000082074	ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T	0.49139	0.79;0.79;0.82	6.07	6.07	0.98685	.	0.085767	0.46442	D	0.000286	T	0.61627	0.2362	M	0.67953	2.075	0.47065	D	0.999308	D	0.69078	0.997	P	0.57720	0.826	T	0.61549	-0.7040	10	0.52906	T	0.07	-4.6085	13.8	0.63194	0.0:0.9304:0.0:0.0696	.	663	B4DLN2	.	F	653;653;663;653	ENSP00000425845:L653F;ENSP00000427114:L653F;ENSP00000442840:L663F	ENSP00000427114:L653F	L	-	3	2	FYB	39161943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.546000	0.53656	2.890000	0.99128	0.585000	0.79938	TTG	FYB	-	NULL		0.413	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	C	NM_001465		39126186	-1	no_errors	ENST00000540520	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39126186	C	G	39126186	1	3	127	0	1	0	0	0	0	0	0	0	6142	825	29	1		1	FYB	5	39126186	Intron	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		39126186	141789074	48	19680										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41039655	41039655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tatcctaaaatagatgttatTccctaaaatcagaaaaggta	5	6	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:41039655T>C	ENST00000399564.4	-	20	2406	c.1956A>G	c.(1954-1956)ggA>ggG	p.G652G	MROH2B_ENST00000506092.2_Silent_p.G207G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	652								p.G652G(1)									TAGATGTTATTCCCTAAAATC	0.308																																																	1	Substitution - coding silent(1)	cervix(1)											40	38	38					5																	41039655		1824	4074	5898	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1956A>G	5.37:g.41039655T>C			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.G652	ENST00000399564.4	37	c.1956	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold		0.308	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	T	NM_173489		41039655	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	silent	SNP	0.997	C	C	41039655	T	C	41039655	2	2	127	1	0	0	0	0	0	0	0	1	7055	1770	62	5		5	HEATR7B2	5	41039655	Silent	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	1913469	41039655	139875605	49	19681										
APC	324	genome.wustl.edu	37	chr5	112174700	112174700	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtcaagaagatgactatgaaGatgataagcctaccaattat	8	6	1	6			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:112174700G>C	ENST00000457016.1	+	16	3789	c.3409G>C	c.(3409-3411)Gat>Cat	p.D1137H	APC_ENST00000257430.4_Missense_Mutation_p.D1137H|APC_ENST00000508376.2_Missense_Mutation_p.D1137H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1137	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1137H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGACTATGAAGATGATAAGCC	0.363		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Missense(1)|Unknown(1)	cervix(1)|skin(1)											69	64	66					5																	112174700		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3409G>C	5.37:g.112174700G>C	ENSP00000413133:p.Asp1137His		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D1137H	ENST00000457016.1	37	c.3409	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870293	0.51588	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.76	5.76	0.90799	.	0.167671	0.52532	D	0.000078	D	0.89350	0.6690	N	0.24115	0.695	0.51482	D	0.999929	P;D	0.63880	0.878;0.993	P;P	0.61477	0.845;0.889	D	0.90405	0.4405	10	0.72032	D	0.01	-22.4703	15.1528	0.72713	0.0694:0.0:0.9306:0.0	.	1139;1137	Q4LE70;P25054	.;APC_HUMAN	H	1137;1119;1137;1137;1137	ENSP00000413133:D1137H;ENSP00000423224:D1119H;ENSP00000257430:D1137H;ENSP00000427089:D1137H;ENSP00000423828:D1137H	ENSP00000257430:D1137H	D	+	1	0	APC	112202599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.732000	0.93576	0.655000	0.94253	GAT	APC	-	pfam_APC_15aa_rpt		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112174700	1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112174700	G	C	112174700	3	2	127	1	0	0	0	0	1	0	0	0	763	942	33	1	3467	1	APC	5	112174700	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	71135045	112174700	68740560	50	19682										
YTHDC2	64848	genome.wustl.edu	37	chr5	112862370	112862370	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aggagaatccgaatttgattCttttaggcagtctttaccag	9	7	2	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:112862370C>G	ENST00000161863.4	+	4	776	c.563C>G	c.(562-564)tCt>tGt	p.S188C	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S188C	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	188					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.S188C(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAATTTGATTCTTTTAGGCAG	0.368																																																	1	Substitution - Missense(1)	cervix(1)											85	87	86					5																	112862370		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.563C>G	5.37:g.112862370C>G	ENSP00000161863:p.Ser188Cys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S188C	ENST00000161863.4	37	c.563	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400311	0.62177	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	T;T	0.07688	4.17;3.17	5.52	5.52	0.82312	.	0.409349	0.29745	N	0.011315	T	0.12987	0.0315	L	0.40543	1.245	0.34765	D	0.733097	P	0.51240	0.943	P	0.51193	0.662	T	0.03728	-1.1009	10	0.56958	D	0.05	.	11.2162	0.48827	0.0:0.8577:0.0:0.1423	.	188	Q9H6S0	YTDC2_HUMAN	C	188;188;128;98	ENSP00000161863:S188C;ENSP00000423101:S188C	ENSP00000161863:S188C	S	+	2	0	YTHDC2	112890269	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	0.771000	0.26633	2.753000	0.94483	0.467000	0.42956	TCT	YTHDC2	-	NULL		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	C	NM_022828		112862370	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112862370	C	G	112862370	3	3	127	1	0	0	0	0	1	0	0	0	17528	913	32	1	577	1	YTHDC2	5	112862370	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	687670	112862370	68052890	51	19683										
JAKMIP2	9832	genome.wustl.edu	37	chr5	147015790	147015790	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttgtgcccaacataccttttCtaaaagctcctggtttctct	5	12	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:147015790C>G	ENST00000265272.5	-	12	2139	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q	JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E516Q	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	558						Golgi apparatus (GO:0005794)		p.E558Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCTTTTCTAAAAGCTCC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											109	94	99					5																	147015790		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1672G>C	5.37:g.147015790C>G	ENSP00000265272:p.Glu558Gln		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.E558Q	ENST00000265272.5	37	c.1672	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130662	0.56828	.	.	ENSG00000176049	ENST00000265272;ENST00000333010	T;T	0.29397	1.57;1.57	6.04	5.15	0.70609	.	0.108333	0.64402	D	0.000004	T	0.34077	0.0885	M	0.64170	1.965	0.46078	D	0.998852	B;B;B	0.29301	0.241;0.241;0.081	B;B;B	0.28139	0.086;0.086;0.086	T	0.08146	-1.0736	10	0.40728	T	0.16	.	16.7481	0.85478	0.1297:0.8703:0.0:0.0	.	516;558;558	B4DSG0;Q96AA8-3;Q96AA8	.;.;JKIP2_HUMAN	Q	558;516	ENSP00000265272:E558Q;ENSP00000328989:E516Q	ENSP00000265272:E558Q	E	-	1	0	JAKMIP2	146995983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	2.873000	0.98535	0.563000	0.77884	GAA	JAKMIP2	-	NULL		0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	C	NM_014790		147015790	-1	no_errors	ENST00000265272	ensembl	human	known	70_37	missense	SNP	1.000	G	G	147015790	C	G	147015790	3	3	127	1	0	0	0	0	1	0	0	0	7961	922	32	1	800	1	JAKMIP2	5	147015790	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	34153420	147015790	33899470	52	19684										
GRIA1	2890	genome.wustl.edu	37	chr5	153056683	153056683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tggctaacccagctgttcccTggggccaagggatcgacatc	12	13	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:153056683T>C	ENST00000285900.5	+	7	1334	c.991T>C	c.(991-993)Tgg>Cgg	p.W331R	GRIA1_ENST00000518142.1_Missense_Mutation_p.W251R|GRIA1_ENST00000521843.2_Missense_Mutation_p.W262R|GRIA1_ENST00000518783.1_Missense_Mutation_p.W341R|GRIA1_ENST00000340592.5_Missense_Mutation_p.W331R|GRIA1_ENST00000448073.4_Missense_Mutation_p.W341R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	331					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCTGTTCCCTGGGGCCAAGG	0.547																																																	0													53	51	51					5																	153056683		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.991T>C	5.37:g.153056683T>C	ENSP00000285900:p.Trp331Arg		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W341R	ENST00000285900.5	37	c.1021	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387375	0.82902	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.996;0.993;0.998	D	0.93056	0.6470	10	0.87932	D	0	.	14.8806	0.70531	0.0:0.0:0.0:1.0	.	341;341;251;341;331;331	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	R	331;331;251;285;331;262;262;341;341	ENSP00000285900:W331R;ENSP00000427920:W251R;ENSP00000339343:W331R;ENSP00000427864:W262R;ENSP00000442108:W262R;ENSP00000428994:W341R;ENSP00000415569:W341R	ENSP00000285900:W331R	W	+	1	0	GRIA1	153036876	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.753000	0.85153	2.097000	0.63578	0.533000	0.62120	TGG	GRIA1	-	pfam_ANF_lig-bd_rcpt		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	T			153056683	1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153056683	T	C	153056683	3	2	127	1	0	0	0	0	1	0	0	0	6787	1580	55	5	1017	5	GRIA1	5	153056683	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	6040893	153056683	27858577	53	19685										
GALNT10	55568	genome.wustl.edu	37	chr5	153755919	153755919	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	accaagaaacgggaagggctGataaggacccgaatgctggg	15	8	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:153755919G>A	ENST00000297107.6	+	5	788	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Silent_p.L217L|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	217	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L217L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGAAGGGCTGATAAGGACCC	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											96	95	96					5																	153755919		2203	4300	6503	SO:0001819	synonymous_variant	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.651G>A	5.37:g.153755919G>A			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L217	ENST00000297107.6	37	c.651	CCDS4325.1	5																																																																																			GALNT10	-	pfam_Glyco_trans_2		0.522	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	G	NM_198321		153755919	1	no_errors	ENST00000297107	ensembl	human	known	70_37	silent	SNP	0.988	A	A	153755919	G	A	153755919	2	1	127	1	0	0	0	0	0	0	0	1	6227	1277	45	1		1	GALNT10	5	153755919	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	699236	153755919	27159341	54	19686										
ODZ2	57451	genome.wustl.edu	37	chr5	167645660	167645660	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cagtatgaggctgcatccccCggagagcaggagttatatgt	13	9	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:167645660C>A	ENST00000518659.1	+	23	4803	c.4764C>A	c.(4762-4764)ccC>ccA	p.P1588P	TENM2_ENST00000403607.2_Silent_p.P1412P|TENM2_ENST00000520394.1_Silent_p.P1349P|TENM2_ENST00000519204.1_Silent_p.P1467P|TENM2_ENST00000545108.1_Silent_p.P1587P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1588					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGCATCCCCCGGAGAGCAGG	0.468																																																	0													139	135	136					5																	167645660		1972	4152	6124	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4764C>A	5.37:g.167645660C>A			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P1588	ENST00000518659.1	37	c.4764		5																																																																																			TENM2	-	superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf		0.468	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167645660	1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	0.001	A	A	167645660	C	A	167645660	2	1	127	1	0	0	0	0	0	0	0	1	10859	639	23	2		2	ODZ2	5	167645660	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	13889741	167645660	13269600	55	19687										
KCNIP1	30820	genome.wustl.edu	37	chr5	169780916	169780916	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aaaagatgcaagcttgggttCgtgaaatttgcccagaccat	10	8	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:169780916C>G	ENST00000377360.4	+	1	426	c.36C>G	c.(34-36)ttC>ttG	p.F12L	KCNIP1_ENST00000518527.1_3'UTR	NM_001034838.2	NP_001030010.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	0					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F12L(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTTGGGTTCGTGAAATTTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											101	83	89					5																	169780916		2203	4300	6503	SO:0001583	missense	30820			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000377360.4:c.36C>G	5.37:g.169780916C>G	ENSP00000366577:p.Phe12Leu		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.F12L	ENST00000377360.4	37	c.36	CCDS34285.1	5	.	.	.	.	.	.	.	.	.	.	C	2.317	-0.356503	0.05138	.	.	ENSG00000182132	ENST00000377360	T	0.63913	-0.07	5.3	-0.812	0.10853	.	.	.	.	.	T	0.29355	0.0731	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05971	-1.0853	8	.	.	.	.	4.836	0.13466	0.0:0.3973:0.1552:0.4475	.	12	Q3YAD3	.	L	12	ENSP00000366577:F12L	.	F	+	3	2	KCNIP1	169713494	0.988000	0.35896	0.284000	0.24805	0.078000	0.17371	-0.032000	0.12266	-0.239000	0.09710	-0.140000	0.14226	TTC	KCNIP1	-	NULL		0.557	KCNIP1-005	KNOWN	basic|CCDS	protein_coding	KCNIP1	HGNC	protein_coding	OTTHUMT00000371845.1	C			169780916	1	no_errors	ENST00000377360	ensembl	human	known	70_37	missense	SNP	0.824	G	G	169780916	C	G	169780916	3	3	127	1	0	0	0	0	1	0	0	0	8059	883	31	1	38	1	KCNIP1	5	169780916	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	2135256	169780916	11134344	56	19688										
ADAMTS2	9509	genome.wustl.edu	37	chr5	178541064	178541064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cctctgtggcattggtgctgGaggcattgagagggacctcc	15	10	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr5:178541064G>T	ENST00000251582.7	-	22	3541	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1147					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1147Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTGGTGCTGGAGGCATTGAG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											204	190	195					5																	178541064		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3440C>A	5.37:g.178541064G>T	ENSP00000251582:p.Ser1147Tyr			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.S1147Y	ENST00000251582.7	37	c.3440	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359570	0.41801	.	.	ENSG00000087116	ENST00000251582	T	0.60424	0.19	5.05	4.05	0.47172	.	0.150804	0.30611	N	0.009251	T	0.48960	0.1529	L	0.27053	0.805	0.28039	N	0.933828	P	0.51653	0.947	P	0.47744	0.556	T	0.48958	-0.8988	10	0.56958	D	0.05	.	10.9156	0.47135	0.1284:0.0:0.8716:0.0	.	1147	O95450	ATS2_HUMAN	Y	1147	ENSP00000251582:S1147Y	ENSP00000251582:S1147Y	S	-	2	0	ADAMTS2	178473670	0.996000	0.38824	0.685000	0.30070	0.337000	0.28794	4.946000	0.63576	2.308000	0.77769	0.561000	0.74099	TCC	ADAMTS2	-	NULL		0.557	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	G	NM_014244		178541064	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	0.027	T	T	178541064	G	T	178541064	3	4	127	1	0	0	0	0	1	0	0	0	265	1174	41	3	199	3	ADAMTS2	5	178541064	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	8760148	178541064	2374196	57	19689										
ATXN1	6310	genome.wustl.edu	37	chr6	16326687	16326687	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gcccgggctatggctgtcttCaatcctctctacggtgctgg	12	13	3	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:16326687C>T	ENST00000244769.4	-	8	2791	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E619K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	619	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.E619K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGCTGTCTTCAATCCTCTCT	0.552																																																	1	Substitution - Missense(1)	cervix(1)											83	84	84					6																	16326687		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1855G>A	6.37:g.16326687C>T	ENSP00000244769:p.Glu619Lys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E619K	ENST00000244769.4	37	c.1855	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736573	0.69304	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.79247	-1.25;-1.25	4.15	4.15	0.48705	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.208958	0.48767	D	0.000162	T	0.64023	0.2561	L	0.47716	1.5	0.80722	D	1	B	0.26672	0.156	B	0.25405	0.06	T	0.69506	-0.5127	10	0.62326	D	0.03	-18.6006	16.9893	0.86349	0.0:1.0:0.0:0.0	.	619	P54253	ATX1_HUMAN	K	619	ENSP00000244769:E619K;ENSP00000416360:E619K	ENSP00000244769:E619K	E	-	1	0	ATXN1	16434666	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	7.171000	0.77595	2.307000	0.77673	0.561000	0.74099	GAA	ATXN1	-	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1		0.552	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16326687	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16326687	C	T	16326687	3	4	127	1	0	0	0	0	1	0	0	0	1210	835	29	1	600	1	ATXN1	6	16326687	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		16326687	154788380	58	19690										
SLC26A8	116369	genome.wustl.edu	37	chr6	35927343	35927343	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agctgaaaatttcttcttctTtaagaggcacctttaccata	5	9	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:35927343T>A	ENST00000490799.1	-	16	2110	c.1757A>T	c.(1756-1758)aAa>aTa	p.K586I	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K481I|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K586I	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.K586I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCTTCTTCTTTAAGAGGCAC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											91	94	93					6																	35927343		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1757A>T	6.37:g.35927343T>A	ENSP00000417638:p.Lys586Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K586I	ENST00000490799.1	37	c.1757	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674692	0.29693	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95482	-3.41;-3.72;-3.41	5.49	-1.11	0.09840	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.984735	0.08313	N	0.965140	D	0.86351	0.5912	L	0.46157	1.445	0.23138	N	0.998237	P;P;P	0.43352	0.642;0.744;0.804	B;B;B	0.42738	0.321;0.341;0.396	T	0.79376	-0.1829	10	0.19590	T	0.45	.	7.1219	0.25450	0.0:0.1821:0.5459:0.272	.	586;481;168	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	I	586;481;586	ENSP00000417638:K586I;ENSP00000378100:K481I;ENSP00000347778:K586I	ENSP00000347778:K586I	K	-	2	0	SLC26A8	36035321	0.038000	0.19896	0.879000	0.34478	0.143000	0.21401	0.329000	0.19698	-0.142000	0.11354	-0.256000	0.11100	AAA	SLC26A8	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.438	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	T			35927343	-1	no_errors	ENST00000355574	ensembl	human	known	70_37	missense	SNP	0.731	A	A	35927343	T	A	35927343	3	1	127	1	0	0	0	0	1	0	0	0	14553	1841	64	5	1175	5	SLC26A8	6	35927343	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	19600656	35927343	135187724	59	19691										
BTBD9	114781	genome.wustl.edu	37	chr6	38562104	38562104	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttccaccatataataatgctCtgcacatcagggaagaaaca	6	10	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:38562104C>T	ENST00000481247.1	-	3	337		c.e3-1		BTBD9_ENST00000408958.1_5'Flank|BTBD9_ENST00000419706.2_Missense_Mutation_p.R3K|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000314100.6_Splice_Site	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TAATAATGCTCTGCACATCAG	0.358																																																	0													48	48	48					6																	38562104		1922	4142	6064	SO:0001630	splice_region_variant	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.186-1G>A	6.37:g.38562104C>T			Q494V9|Q494W1|Q96M00	Splice_Site	SNP	-	e2-1	ENST00000481247.1	37	c.186-1	CCDS47418.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.639106|3.639106	0.67244|0.67244	.|.	.|.	ENSG00000183826|ENSG00000183826	ENST00000481247;ENST00000403056;ENST00000498633|ENST00000419706	.|T	.|0.22134	.|1.97	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.31263	.|0.0791	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00664	.|-1.1620	.|6	.|.	.|.	.|.	.|.	19.3029|19.3029	0.94150|0.94150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|K	-1|3	.|ENSP00000415365:R3K	.|.	.|R	-|-	.|2	.|0	BTBD9|BTBD9	38670082|38670082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	7.620000|7.620000	0.83070|0.83070	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	.|AGA	BTBD9	-	-		0.358	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	C	NM_152733	Intron	38562104	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	38562104	C	T	38562104	5	4	127	1	0	0	0	0	0	0	1	0	1551	927	32	1	1780	1	BTBD9	6	38562104	Splice_Site	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	2634761	38562104	132552963	60	19692										
KCNQ5	56479	genome.wustl.edu	37	chr6	73787562	73787562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtctatctggtggaaaaggaTgccaataaagagttttctac	10	6	3	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:73787562T>C	ENST00000370398.1	+	5	979	c.870T>C	c.(868-870)gaT>gaC	p.D290D	KCNQ5_ENST00000414165.2_Silent_p.D290D|KCNQ5_ENST00000342056.2_Silent_p.D290D|KCNQ5_ENST00000370392.1_Silent_p.D290D|KCNQ5_ENST00000403813.2_Silent_p.D290D|KCNQ5_ENST00000402622.2_Silent_p.D290D|KCNQ5_ENST00000355635.3_Silent_p.D290D|KCNQ5_ENST00000355194.4_Silent_p.D290D	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	290					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.D290D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGAAAAGGATGCCAATAAAG	0.318																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - coding silent(1)	cervix(1)											120	105	110					6																	73787562		2203	4300	6503	SO:0001819	synonymous_variant	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.870T>C	6.37:g.73787562T>C			A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D290	ENST00000370398.1	37	c.870	CCDS4976.1	6																																																																																			KCNQ5	-	pfam_Ion_trans_dom,pfam_Ion_trans_2		0.318	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	T	NM_019842		73787562	1	no_errors	ENST00000402622	ensembl	human	known	70_37	silent	SNP	1.000	C	C	73787562	T	C	73787562	2	2	127	1	0	0	0	0	0	0	0	1	8106	1461	51	5		5	KCNQ5	6	73787562	Silent	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	35225458	73787562	97327505	61	19693										
RMND1	55005	genome.wustl.edu	37	chr6	151766898	151766898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcggcactgatgtgcttttgAtaatatatgatgagatctgg	11	5	1	4			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:151766898A>G	ENST00000367303.4	-	2	171	c.49T>C	c.(49-51)Tca>Cca	p.S17P	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	17					translation (GO:0006412)	mitochondrion (GO:0005739)		p.S17P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGTGCTTTTGATAATATATGA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											41	37	38					6																	151766898		2203	4300	6503	SO:0001583	missense	55005			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.49T>C	6.37:g.151766898A>G	ENSP00000356272:p.Ser17Pro		A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	pfam_DUF155	p.S17P	ENST00000367303.4	37	c.49	CCDS5232.1	6	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818479	0.32145	.	.	ENSG00000155906	ENST00000367303	T	0.50001	0.76	5.57	-2.42	0.06542	.	0.965752	0.08477	N	0.940051	T	0.10594	0.0259	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.26430	-1.0103	10	0.40728	T	0.16	-0.822	2.3449	0.04269	0.3493:0.3675:0.1719:0.1113	.	17;17	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	P	17	ENSP00000356272:S17P	ENSP00000356272:S17P	S	-	1	0	RMND1	151808591	0.178000	0.23122	0.000000	0.03702	0.045000	0.14185	0.423000	0.21313	-0.197000	0.10350	0.460000	0.39030	TCA	RMND1	-	NULL		0.383	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	A	NM_017909		151766898	-1	no_errors	ENST00000367303	ensembl	human	known	70_37	missense	SNP	0.000	G	G	151766898	A	G	151766898	3	3	127	1	0	0	0	0	1	0	0	0	13426	333	12	5	1344	5	RMND1	6	151766898	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	77979336	151766898	19348169	62	19694										
RGS17	26575	genome.wustl.edu	37	chr6	153332762	153332762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aacaaatgacttataaatttGagagttcaaaaaccttggaa	6	5	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr6:153332762G>C	ENST00000367225.2	-	4	604	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E	RGS17_ENST00000206262.1_Missense_Mutation_p.Q194E			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	194	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q194E(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTATAAATTTGAGAGTTCAAA	0.338																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												1	Substitution - Missense(1)	cervix(1)											52	54	53					6																	153332762		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.580C>G	6.37:g.153332762G>C	ENSP00000356194:p.Gln194Glu		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q194E	ENST00000367225.2	37	c.580	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	G	1.941	-0.443628	0.04604	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.01613	4.73;4.73	5.19	5.19	0.71726	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.179047	0.51477	D	0.000083	T	0.00384	0.0012	N	0.00996	-1.065	0.48632	D	0.999682	B	0.11235	0.004	B	0.13407	0.009	T	0.53816	-0.8385	10	0.08599	T	0.76	-15.0042	19.1288	0.93396	0.0:0.0:1.0:0.0	.	194	Q9UGC6	RGS17_HUMAN	E	194	ENSP00000356194:Q194E;ENSP00000206262:Q194E	ENSP00000206262:Q194E	Q	-	1	0	RGS17	153374455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.845000	0.48254	2.585000	0.87301	0.551000	0.68910	CAA	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.338	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	G			153332762	-1	no_errors	ENST00000206262	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153332762	G	C	153332762	3	2	127	1	0	0	0	0	1	0	0	0	13329	1299	45	1	56	1	RGS17	6	153332762	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	1565864	153332762	17782305	63	19695										
SLC29A4	222962	genome.wustl.edu	37	chr7	5340136	5340136	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtggtcttcatccccctcttCatcctgtgcgtctaccccag	7	17	5	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:5340136C>G	ENST00000396872.3	+	10	1454	c.1293C>G	c.(1291-1293)ttC>ttG	p.F431L	SLC29A4_ENST00000297195.4_Missense_Mutation_p.F431L|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.F417L			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	431					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.F431L(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCCCCCTCTTCATCCTGTGCG	0.667																																																	1	Substitution - Missense(1)	cervix(1)											134	123	127					7																	5340136		2203	4299	6502	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1293C>G	7.37:g.5340136C>G	ENSP00000380081:p.Phe431Leu		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.F431L	ENST00000396872.3	37	c.1293	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	12.78	2.039720	0.35989	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.68479	-0.33;-0.33;-0.33	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.52126	1.63	0.50039	D	0.999841	D;B	0.71674	0.998;0.17	D;B	0.76071	0.987;0.216	T	0.73097	-0.4090	10	0.27082	T	0.32	-35.634	15.2091	0.73206	0.0:1.0:0.0:0.0	.	417;431	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	L	431;431;417	ENSP00000380081:F431L;ENSP00000297195:F431L;ENSP00000385845:F417L	ENSP00000297195:F431L	F	+	3	2	SLC29A4	5306662	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.063000	0.41423	2.010000	0.58986	0.561000	0.74099	TTC	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5340136	1	no_errors	ENST00000297195	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5340136	C	G	5340136	3	3	127	1	0	0	0	0	1	0	0	0	14567	825	29	1	1327	1	SLC29A4	7	5340136	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		5340136	153798527	64	19696										
HOXA3	3200	genome.wustl.edu	37	chr7	27147688	27147688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccccatagtccatggcgcccGaggcagcgtgggggaggtga	17	12	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:27147688G>A	ENST00000396352.4	-	3	1377	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	HOXA3_ENST00000317201.2_Missense_Mutation_p.S393L|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	393					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S393L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CATGGCGCCCGAGGCAGCGTG	0.701																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												1	Substitution - Missense(1)	cervix(1)											31	34	33					7																	27147688		2203	4299	6502	SO:0001583	missense	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1178C>T	7.37:g.27147688G>A	ENSP00000379640:p.Ser393Leu		A4D181	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S393L	ENST00000396352.4	37	c.1178	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385859	0.42308	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.87103	-2.21;-2.21	5.6	4.71	0.59529	.	0.388897	0.29830	N	0.011089	D	0.87152	0.6106	M	0.80982	2.52	0.43238	D	0.995145	P	0.36944	0.574	B	0.31869	0.137	D	0.87949	0.2722	10	0.87932	D	0	.	15.9334	0.79683	0.0:0.0:0.8639:0.1361	.	393	O43365	HXA3_HUMAN	L	393;393;235	ENSP00000379640:S393L;ENSP00000324884:S393L	ENSP00000324884:S393L	S	-	2	0	HOXA3	27114213	1.000000	0.71417	0.452000	0.26994	0.838000	0.47535	6.461000	0.73522	1.361000	0.45981	0.591000	0.81541	TCG	HOXA3	-	NULL		0.701	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	G			27147688	-1	no_errors	ENST00000317201	ensembl	human	known	70_37	missense	SNP	0.905	A	A	27147688	G	A	27147688	3	1	127	1	0	0	0	0	1	0	0	0	7313	1059	37	1	157	1	HOXA3	7	27147688	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	21807552	27147688	131990975	65	19697										
SEMA3A	10371	genome.wustl.edu	37	chr7	83610701	83610701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agcacagtaagggtctcgggCgaggcaacactcagcacacg	13	12	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:83610701C>T	ENST00000265362.4	-	14	1902	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A530T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	530					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.A530T(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGGTCTCGGGCGAGGCAACAC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											78	71	74					7																	83610701		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1588G>A	7.37:g.83610701C>T	ENSP00000265362:p.Ala530Thr			Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.A530T	ENST00000265362.4	37	c.1588	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.280421	0.95489	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.27402	1.67;1.67	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	P	0.58520	0.84	T	0.66464	-0.5917	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	530	Q14563	SEM3A_HUMAN	T	530	ENSP00000265362:A530T;ENSP00000415260:A530T	ENSP00000265362:A530T	A	-	1	0	SEMA3A	83448637	1.000000	0.71417	0.834000	0.33040	0.499000	0.33736	7.770000	0.85390	2.687000	0.91594	0.655000	0.94253	GCC	SEMA3A	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.463	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83610701	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83610701	C	T	83610701	3	4	127	1	0	0	0	0	1	0	0	0	14054	768	27	2	743	2	SEMA3A	7	83610701	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	56463013	83610701	75527962	66	19698										
METTL2B	55798	genome.wustl.edu	37	chr7	128119454	128119454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agtgttcttcgaagagccttGaacataaaacacagacacct	7	10	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:128119454G>C	ENST00000262432.8	+	3	482	c.445G>C	c.(445-447)Gaa>Caa	p.E149Q	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.E84Q	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	149					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.E149Q(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAAGAGCCTTGAACATAAAAC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											161	176	171					7																	128119454		2203	4300	6503	SO:0001583	missense	55798			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.445G>C	7.37:g.128119454G>C	ENSP00000262432:p.Glu149Gln		B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.E149Q	ENST00000262432.8	37	c.445	CCDS5803.2	7	.	.	.	.	.	.	.	.	.	.	G	3.173	-0.169534	0.06461	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;D;T	0.82711	2.19;-1.64;2.73	2.65	1.74	0.24563	.	1.742990	0.02499	N	0.090311	T	0.71459	0.3342	N	0.22421	0.69	0.09310	N	1	B;B	0.19817	0.039;0.009	B;B	0.18871	0.023;0.007	T	0.54873	-0.8228	10	0.15066	T	0.55	-1.2411	5.5248	0.16953	0.1667:0.0:0.8333:0.0	.	84;149	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	Q	143;149;84	ENSP00000418634:E143Q;ENSP00000262432:E149Q;ENSP00000418402:E84Q	ENSP00000262432:E149Q	E	+	1	0	METTL2B	127906690	0.001000	0.12720	0.002000	0.10522	0.116000	0.19942	1.036000	0.30228	0.453000	0.26858	0.405000	0.27470	GAA	METTL2B	-	pirsf_MeTrfase_METTL2_prd		0.418	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	G	NM_018396		128119454	1	no_errors	ENST00000262432	ensembl	human	known	70_37	missense	SNP	0.003	C	C	128119454	G	C	128119454	3	2	127	1	0	0	0	0	1	0	0	0	9523	1291	45	1	455	1	METTL2B	7	128119454	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	44508753	128119454	31019209	67	19699										
ZNF862	643641	genome.wustl.edu	37	chr7	149557788	149557788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tacacggggccttttaaagtGgagactttaaaataccatga	9	7	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:149557788G>A	ENST00000223210.4	+	7	1784	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V513V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTTTTAAAGTGGAGACTTTAA	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											65	70	69					7																	149557788		1983	4145	6128	SO:0001819	synonymous_variant	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1539G>A	7.37:g.149557788G>A			A0AUL8	Silent	SNP	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.V513	ENST00000223210.4	37	c.1539	CCDS47741.1	7																																																																																			ZNF862	-	smart_Znf_TTF		0.468	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	G	NM_001099220		149557788	1	no_errors	ENST00000223210	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149557788	G	A	149557788	2	1	127	1	0	0	0	0	0	0	0	1	18225	1335	47	4		4	ZNF862	7	149557788	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	21438334	149557788	9580875	68	19700										
PRKAG2	51422	genome.wustl.edu	37	chr7	151292526	151292526	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcgcatgtaaacaccactttCtgagtcttctactgctaaaa	5	11	3	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr7:151292526C>G	ENST00000287878.4	-	6	1273	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	PRKAG2_ENST00000392801.2_Missense_Mutation_p.E213Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.E132Q|PRKAG2_ENST00000418337.2_Missense_Mutation_p.E16Q|PRKAG2_ENST00000492843.1_Missense_Mutation_p.E133Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	257					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.E257Q(1)|p.E132Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	ACACCACTTTCTGAGTCTTCT	0.358																																																	2	Substitution - Missense(2)	cervix(2)											111	98	102					7																	151292526		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.769G>C	7.37:g.151292526C>G	ENSP00000287878:p.Glu257Gln		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.E257Q	ENST00000287878.4	37	c.769	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900741	0.52227	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801;ENST00000476632	D;D;D;D;D;D	0.88975	-2.3;-2.05;-2.45;-2.42;-2.45;-1.67	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.47716	1.5	0.58432	D	0.999999	B;B	0.26635	0.104;0.155	B;B	0.29942	0.04;0.109	T	0.83312	-0.0022	10	0.33940	T	0.23	.	15.5013	0.75700	0.0:1.0:0.0:0.0	.	132;257	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	Q	16;257;133;132;213;16	ENSP00000387386:E16Q;ENSP00000287878:E257Q;ENSP00000419577:E133Q;ENSP00000406544:E132Q;ENSP00000376549:E213Q;ENSP00000419493:E16Q	ENSP00000287878:E257Q	E	-	1	0	PRKAG2	150923459	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.356000	0.66052	2.236000	0.73375	0.557000	0.71058	GAA	PRKAG2	-	NULL		0.358	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	C	NM_016203		151292526	-1	no_errors	ENST00000287878	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151292526	C	G	151292526	3	3	127	1	0	0	0	0	1	0	0	0	12528	922	32	1	984	1	PRKAG2	7	151292526	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	1734738	151292526	7846137	69	19701										
LZTS1	11178	genome.wustl.edu	37	chr8	20107234	20107234	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cgccttcccaggcagcccctCagatctcagtggctatgatg	10	15	2	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:20107234C>T	ENST00000381569.1	-	4	2147	c.1790G>A	c.(1789-1791)tGa>tAa	p.*597*	LZTS1_ENST00000522290.1_Silent_p.*538*|LZTS1_ENST00000265801.6_Silent_p.*597*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	0					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.*597*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCAGCCCCTCAGATCTCAGT	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											51	46	48					8																	20107234		2203	4299	6502	SO:0001819	synonymous_variant	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1790G>A	8.37:g.20107234C>T			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	pfam_Fez1	p.*597	ENST00000381569.1	37	c.1790	CCDS6015.1	8																																																																																			LZTS1	-	NULL		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	C	NM_021020		20107234	-1	no_errors	ENST00000265801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20107234	C	T	20107234	2	4	127	1	0	0	0	0	0	0	0	1	9161	837	29	1		1	LZTS1	8	20107234	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		20107234	126256788	70	19702										
KIAA0146	23514	genome.wustl.edu	37	chr8	48614331	48614331	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgtgttacatcctcacagctCatccaaatctgggacaaatt	6	11	3	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:48614331C>T	ENST00000297423.4	+	13	2206	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	SPIDR_ENST00000518074.1_Missense_Mutation_p.H548Y|SPIDR_ENST00000517693.1_Missense_Mutation_p.H83Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.H538Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	608					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.H608Y(1)									CCTCACAGCTCATCCAAATCT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											157	149	152					8																	48614331		1885	4115	6000	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1822C>T	8.37:g.48614331C>T	ENSP00000297423:p.His608Tyr		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.H608Y	ENST00000297423.4	37	c.1822	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.776689	0.00640	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.	.	.	5.41	4.34	0.51931	.	0.633957	0.17217	N	0.182479	T	0.36441	0.0967	L	0.59436	1.845	0.09310	N	1	P;P;P;P;P;B;P;P	0.44090	0.744;0.744;0.826;0.729;0.467;0.118;0.744;0.729	B;B;B;B;B;B;B;B	0.41988	0.341;0.341;0.201;0.372;0.176;0.126;0.26;0.372	T	0.38045	-0.9679	9	0.02654	T	1	.	12.983	0.58575	0.0:0.9092:0.0:0.0908	.	98;113;548;538;608;297;83;608	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.;.;.;.;.;.;.;K0146_HUMAN	Y	608;548;538;113;83;83	.	ENSP00000297423:H608Y	H	+	1	0	KIAA0146	48776884	0.018000	0.18449	0.015000	0.15790	0.019000	0.09904	1.872000	0.39549	2.547000	0.85894	0.655000	0.94253	CAT	KIAA0146	-	NULL		0.398	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	C	NM_001080394		48614331	1	no_errors	ENST00000297423	ensembl	human	known	70_37	missense	SNP	0.019	T	T	48614331	C	T	48614331	3	4	127	1	0	0	0	0	1	0	0	0	8177	826	29	1	1872	1	KIAA0146	8	48614331	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	28507097	48614331	97749691	71	19703										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110478922	110478922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtctgtgatgcttcagtcagCtttcaccgtttagcgttcaa	9	10	5	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr8:110478922C>A	ENST00000378402.5	+	50	8633	c.8529C>A	c.(8527-8529)agC>agA	p.S2843R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2843					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTCAGTCAGCTTTCACCGTT	0.448										HNSCC(38;0.096)																																							0													145	134	137					8																	110478922		1955	4159	6114	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8529C>A	8.37:g.110478922C>A	ENSP00000367655:p.Ser2843Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.S2843R	ENST00000378402.5	37	c.8529	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376573	0.24857	.	.	ENSG00000205038	ENST00000378402	D	0.85773	-2.03	6.16	3.38	0.38709	.	0.101584	0.64402	D	0.000003	T	0.64505	0.2604	N	0.04880	-0.145	0.26097	N	0.980877	B	0.18863	0.031	B	0.15484	0.013	T	0.50145	-0.8862	10	0.15066	T	0.55	.	6.4376	0.21831	0.0:0.6541:0.1328:0.2131	.	2843	Q86WI1	PKHL1_HUMAN	R	2843	ENSP00000367655:S2843R	ENSP00000367655:S2843R	S	+	3	2	PKHD1L1	110548098	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	0.916000	0.28651	0.917000	0.36895	0.650000	0.86243	AGC	PKHD1L1	-	NULL		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110478922	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110478922	C	A	110478922	3	1	127	1	0	0	0	0	1	0	0	0	11996	796	28	4	8727	4	PKHD1L1	8	110478922	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	61864591	110478922	35885100	72	19704										
KANK1	23189	genome.wustl.edu	37	chr9	711531	711531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tccaccccagtgaccaacgtGagccccatgcacctgcagca	8	18	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:711531G>A	ENST00000382303.1	+	7	1417	c.765G>A	c.(763-765)gtG>gtA	p.V255V	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.V255V|KANK1_ENST00000382293.3_Silent_p.V97V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	255					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.V97V(1)|p.V255V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGACCAACGTGAGCCCCATGC	0.627																																																	2	Substitution - coding silent(2)	cervix(2)											66	63	64					9																	711531		2203	4300	6503	SO:0001819	synonymous_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.765G>A	9.37:g.711531G>A			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V255	ENST00000382303.1	37	c.765	CCDS34976.1	9																																																																																			KANK1	-	NULL		0.627	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		711531	1	no_errors	ENST00000382297	ensembl	human	known	70_37	silent	SNP	1.000	A	A	711531	G	A	711531	2	1	127	1	0	0	0	0	0	0	0	1	7996	1277	45	1		1	KANK1	9	711531	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		711531	140501900	73	19705										
GLDC	2731	genome.wustl.edu	37	chr9	6534789	6534789	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtcagggagtgtggagacatCtgagacagagacacggacag	16	7	2	3	rs386833569		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:6534789C>G	ENST00000321612.6	-	24	2989		c.e24-1			NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GTGGAGACATCTGAGACAGAG	0.547																																																	1	Unknown(1)	cervix(1)	GRCh37	CS061291	GLDC	S							102	77	85					9																	6534789		2203	4300	6503	SO:0001630	splice_region_variant	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2839-1G>C	9.37:g.6534789C>G			Q2M2F8	Splice_Site	SNP	-	e24-1	ENST00000321612.6	37	c.2839-1	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099862	0.76983	.	.	ENSG00000178445	ENST00000321612	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLDC	6524789	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.097000	0.76967	2.667000	0.90743	0.561000	0.74099	.	GLDC	-	-		0.547	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	C	NM_000170	Intron	6534789	-1	no_errors	ENST00000321612	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	6534789	C	G	6534789	5	3	127	1	0	0	0	0	0	0	1	0	6452	927	32	1	232	1	GLDC	9	6534789	Splice_Site	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	5823258	6534789	134678642	74	19706										
C9orf11	54586	genome.wustl.edu	37	chr9	27296981	27296981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tttaaatgctctctcaccttCaatagtaggcttcaaagtgc	6	10	4	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:27296981C>T	ENST00000380032.3	-	1	156	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	EQTN_ENST00000380031.1_Missense_Mutation_p.E25K|EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_Missense_Mutation_p.E25K	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	25					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.E25K(1)									CTCTCACCTTCAATAGTAGGC	0.303																																																	1	Substitution - Missense(1)	cervix(1)											26	27	27					9																	27296981		2193	4293	6486	SO:0001583	missense	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.73G>A	9.37:g.27296981C>T	ENSP00000369371:p.Glu25Lys		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	NULL	p.E25K	ENST00000380032.3	37	c.73	CCDS35001.1	9	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745549	0.49151	.	.	ENSG00000120160	ENST00000537675;ENST00000380032;ENST00000380031	T;T;T	0.40476	1.04;1.51;1.03	4.46	2.61	0.31194	.	1.032040	0.07712	N	0.942212	T	0.30324	0.0761	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32031	0.1;0.352;0.1	B;B;B	0.29176	0.046;0.099;0.046	T	0.25537	-1.0129	10	0.46703	T	0.11	.	5.4868	0.16753	0.1973:0.7025:0.0:0.1002	.	25;25;25	B7ZMK1;Q9NQ60-2;Q9NQ60	.;.;AFAF_HUMAN	K	25	ENSP00000441630:E25K;ENSP00000369371:E25K;ENSP00000369370:E25K	ENSP00000369370:E25K	E	-	1	0	C9orf11	27286981	0.002000	0.14202	0.046000	0.18839	0.013000	0.08279	0.241000	0.18065	0.812000	0.34326	-0.182000	0.12963	GAA	EQTN	-	NULL		0.303	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EQTN	HGNC	protein_coding	OTTHUMT00000055499.1	C	NM_020641		27296981	-1	no_errors	ENST00000380032	ensembl	human	known	70_37	missense	SNP	0.058	T	T	27296981	C	T	27296981	3	4	127	1	0	0	0	0	1	0	0	0	2453	835	29	1	843	1	C9orf11	9	27296981	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	20762192	27296981	113916450	75	19707										
NTNG2	84628	genome.wustl.edu	37	chr9	135042422	135042422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggagacccccctgagaggttCtgctcccatgtaagtccact	10	14	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr9:135042422C>G	ENST00000393229.3	+	2	980	c.204C>G	c.(202-204)ttC>ttG	p.F68L	NTNG2_ENST00000372179.3_Missense_Mutation_p.F68L|NTNG2_ENST00000360670.3_Missense_Mutation_p.F68L|NTNG2_ENST00000393228.4_Missense_Mutation_p.F68L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	68	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.F68L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTGAGAGGTTCTGCTCCCATG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											98	104	102					9																	135042422		2203	4300	6503	SO:0001583	missense	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.204C>G	9.37:g.135042422C>G	ENSP00000376921:p.Phe68Leu		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.F68L	ENST00000393229.3	37	c.204	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932055	0.52866	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.67	4.77	0.60923	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	T	0.77458	0.4133	L	0.46819	1.47	0.44798	D	0.997801	P	0.45634	0.863	P	0.47915	0.561	T	0.79820	-0.1642	10	0.87932	D	0	.	13.5571	0.61765	0.0:0.9257:0.0:0.0743	.	68	Q96CW9	NTNG2_HUMAN	L	68	ENSP00000376921:F68L;ENSP00000376920:F68L;ENSP00000353888:F68L;ENSP00000361252:F68L	ENSP00000353888:F68L	F	+	3	2	NTNG2	134032243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.073000	0.57570	1.392000	0.46585	0.561000	0.74099	TTC	NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.582	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	C	NM_032536		135042422	1	no_errors	ENST00000360670	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135042422	C	G	135042422	3	3	127	1	0	0	0	0	1	0	0	0	10729	912	32	1	206	1	NTNG2	9	135042422	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	107745441	135042422	6171009	76	19708										
SUV39H2	79723	genome.wustl.edu	37	chr10	14944426	14944426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttctggagatatatcttcagAttctattgaccacagcccag	7	10	4	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:14944426A>T	ENST00000354919.6	+	6	1148	c.1148A>T	c.(1147-1149)gAt>gTt	p.D383V	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D323V|SUV39H2_ENST00000378325.3_Missense_Mutation_p.D203V	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	383			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.D323V(1)|p.D383V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ATATCTTCAGATTCTATTGAC	0.343																																																	2	Substitution - Missense(2)	cervix(2)											62	57	59					10																	14944426		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.1148A>T	10.37:g.14944426A>T	ENSP00000346997:p.Asp383Val		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.D383V	ENST00000354919.6	37	c.1148	CCDS53494.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.99|16.99	3.273458|3.273458	0.59649|0.59649	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;D;D;D|.	0.98474|.	-4.82;-4.95;-3.67;-3.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.281475|.	0.35124|.	N|.	0.003427|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B|.	0.12013|.	0.002;0.005|.	B;B|.	0.17098|.	0.007;0.017|.	T|T	0.65619|0.65619	-0.6124|-0.6124	10|5	0.33940|.	T|.	0.23|.	.|.	15.507|15.507	0.75748|0.75748	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	383;203|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	V|F	143;203;383;323|149	ENSP00000388968:D143V;ENSP00000367576:D203V;ENSP00000346997:D383V;ENSP00000319208:D323V|.	ENSP00000319208:D323V|.	D|I	+|+	2|1	0|0	SUV39H2|SUV39H2	14984432|14984432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.873000|6.873000	0.75541|0.75541	2.313000|2.313000	0.78055|0.78055	0.455000|0.455000	0.32223|0.32223	GAT|ATT	SUV39H2	-	pirsf_Histone_H3-K9_MeTrfase		0.343	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H2	HGNC	protein_coding	OTTHUMT00000046947.2	A	NM_024670		14944426	1	no_errors	ENST00000354919	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14944426	A	T	14944426	3	4	127	1	0	0	0	0	1	0	0	0	15443	333	12	5	982	5	SUV39H2	10	14944426	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08		14944426	120590321	77	19709										
C10orf27	219793	genome.wustl.edu	37	chr10	72541760	72541760	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggctccttggcttgcgccctGacttcttctccagtttcagc	9	15	3	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:72541760G>T	ENST00000299290.1	-	4	463	c.74C>A	c.(73-75)tCa>tAa	p.S25*	TBATA_ENST00000545575.1_Nonsense_Mutation_p.S15*|TBATA_ENST00000456372.2_Nonsense_Mutation_p.S25*	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	25					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S25*(1)									CTTGCGCCCTGACTTCTTCTC	0.592																																																	1	Substitution - Nonsense(1)	cervix(1)											68	72	71					10																	72541760		2203	4300	6503	SO:0001587	stop_gained	219793			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.74C>A	10.37:g.72541760G>T	ENSP00000299290:p.Ser25*		A4QPA8|B2RPQ2|Q5T4G2	Nonsense_Mutation	SNP	NULL	p.S25*	ENST00000299290.1	37	c.74	CCDS7308.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.176968	0.97348	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	.	.	.	4.96	4.06	0.47325	.	1.689510	0.03247	N	0.181359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0105	9.767	0.40567	0.0976:0.0:0.9024:0.0	.	.	.	.	X	25;12;25;15	.	ENSP00000299290:S25X	S	-	2	0	C10orf27	72211766	0.083000	0.21467	0.120000	0.21714	0.104000	0.19210	1.712000	0.37940	1.226000	0.43582	0.591000	0.81541	TCA	TBATA	-	NULL		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	G	NM_152710		72541760	-1	no_errors	ENST00000299290	ensembl	human	known	70_37	nonsense	SNP	0.034	T	T	72541760	G	T	72541760	4	4	127	1	0	0	0	0	0	1	0	0	1604	1294	45	3	1013	3	C10orf27	10	72541760	Nonsense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	57597334	72541760	62992987	78	19710										
CDHR1	92211	genome.wustl.edu	37	chr10	85965626	85965626	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aatgagacatctggagccatCtccatcactcagagcccggc	9	14	4	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:85965626C>T	ENST00000372117.3	+	10	1009	c.906C>T	c.(904-906)atC>atT	p.I302I	CDHR1_ENST00000332904.3_Silent_p.I302I|CDHR1_ENST00000440770.2_Silent_p.I61I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	302	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.I302I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGAGCCATCTCCATCACTC	0.567											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	cervix(1)											87	81	83					10																	85965626		2203	4300	6503	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.906C>T	10.37:g.85965626C>T		1240	Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I302	ENST00000372117.3	37	c.906	CCDS7372.1	10																																																																																			CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	C	NM_033100		85965626	1	no_errors	ENST00000372117	ensembl	human	known	70_37	silent	SNP	0.760	T	T	85965626	C	T	85965626	2	4	127	1	0	0	0	0	0	0	0	1	3123	903	32	1		1	CDHR1	10	85965626	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	13423866	85965626	49569121	79	19711										
PLCE1	51196	genome.wustl.edu	37	chr10	95849033	95849033	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gctgtggctttgcacgctctCagctgtcttgaaggttggtt	13	9	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:95849033C>T	ENST00000371380.3	+	2	1441				RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.S61L|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.S61L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.S61L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCACGCTCTCAGCTGTCTTG	0.527																																																	1	Substitution - Missense(1)	cervix(1)											170	153	158					10																	95849033		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42898C>T	10.37:g.95849033C>T			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S61L	ENST00000371380.3	37	c.182	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785810	0.49997	.	.	ENSG00000138193	ENST00000371385;ENST00000371375	T;T	0.25250	1.81;1.81	5.92	3.83	0.44106	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.23607	N	0.997302	B	0.02656	0.0	B	0.01281	0.0	T	0.05750	-1.0866	8	0.87932	D	0	.	4.8331	0.13451	0.0:0.6434:0.2128:0.1438	.	61	Q9P212-2	.	L	61	ENSP00000360438:S61L;ENSP00000360426:S61L	ENSP00000360426:S61L	S	+	2	0	PLCE1	95839023	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	1.546000	0.36179	2.810000	0.96702	0.650000	0.86243	TCA	PLCE1	-	NULL		0.527	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95849033	1	no_errors	ENST00000371375	ensembl	human	known	70_37	missense	SNP	0.993	T	T	95849033	C	T	95849033	1	4	127	0	1	0	0	0	0	0	0	0	12058	838	29	1		1	PLCE1	10	95849033	Intron	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	9883407	95849033	39685714	80	19712										
MKI67	4288	genome.wustl.edu	37	chr10	129902237	129902237	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gctttgccctgatgtttgcgTgagcctctcaactgctgaga	11	11	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr10:129902237T>A	ENST00000368654.3	-	13	8242	c.7867A>T	c.(7867-7869)Acg>Tcg	p.T2623S	MKI67_ENST00000368653.3_Missense_Mutation_p.T2263S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2623	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T2623S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATGTTTGCGTGAGCCTCTCA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											170	152	158					10																	129902237		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7867A>T	10.37:g.129902237T>A	ENSP00000357643:p.Thr2623Ser		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T2623S	ENST00000368654.3	37	c.7867	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	T	12.90	2.074994	0.36566	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02606	4.23;4.23	3.48	1.0	0.19881	.	2.961170	0.01403	N	0.013662	T	0.09818	0.0241	M	0.64404	1.975	0.09310	N	1	D;D;D	0.71674	0.99;0.996;0.998	P;D;D	0.75484	0.763;0.986;0.953	T	0.47611	-0.9104	10	0.09084	T	0.74	.	3.437	0.07449	0.0:0.1304:0.2366:0.6329	.	2622;2263;2623	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	2623;2263;2622	ENSP00000357643:T2623S;ENSP00000357642:T2263S	ENSP00000357642:T2263S	T	-	1	0	MKI67	129792227	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.940000	0.03929	0.075000	0.16796	0.460000	0.39030	ACG	MKI67	-	pfam_K167R		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	T	NM_002417		129902237	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	A	A	129902237	T	A	129902237	3	1	127	1	0	0	0	0	1	0	0	0	9621	1696	59	5	1915	5	MKI67	10	129902237	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	34053204	129902237	5632510	81	19713										
PTDSS2	81490	genome.wustl.edu	37	chr11	489708	489708	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgggtggcgtggccatgcgtGagatctacgacttcatggat	15	8	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:489708G>C	ENST00000308020.5	+	10	1266	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	364					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)	p.E364Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCCATGCGTGAGATCTACGA	0.657																																																	1	Substitution - Missense(1)	cervix(1)											58	52	54					11																	489708		2200	4300	6500	SO:0001583	missense	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1090G>C	11.37:g.489708G>C	ENSP00000308258:p.Glu364Gln			Missense_Mutation	SNP	pfam_PSS	p.E364Q	ENST00000308020.5	37	c.1090	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620465	0.87460	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.31664	0.95	0.58432	D	0.999999	D	0.69078	0.997	D	0.66196	0.942	T	0.61197	-0.7111	9	0.31617	T	0.26	-30.139	15.6881	0.77426	0.0:0.0:1.0:0.0	.	364	Q9BVG9	PTSS2_HUMAN	Q	364	.	ENSP00000308258:E364Q	E	+	1	0	PTDSS2	479708	1.000000	0.71417	0.979000	0.43373	0.940000	0.58332	7.369000	0.79578	2.114000	0.64651	0.561000	0.74099	GAG	PTDSS2	-	pfam_PSS		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	G			489708	1	no_errors	ENST00000308020	ensembl	human	known	70_37	missense	SNP	1.000	C	C	489708	G	C	489708	3	2	127	1	0	0	0	0	1	0	0	0	12764	1291	45	1	1128	1	PTDSS2	11	489708	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		489708	134516808	82	19714										
OR51E1	143503	genome.wustl.edu	37	chr11	4674564	4674564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgcatcgctttagcaagcggCgtgactctccgctgcccgtc	11	15	1	1	rs575981363		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:4674564C>T	ENST00000396952.5	+	2	1458	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	OR51E1_ENST00000530215.1_Silent_p.G46G	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R269C(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGCAAGCGGCGTGACTCTCC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											195	182	186					11																	4674564		2201	4298	6499	SO:0001583	missense	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.808C>T	11.37:g.4674564C>T	ENSP00000380155:p.Arg270Cys		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R270C	ENST00000396952.5	37	c.808	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692753	0.30052	.	.	ENSG00000180785	ENST00000396952	T	0.71934	-0.61	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	1.346740	0.04870	N	0.445795	T	0.60170	0.2248	N	0.24115	0.695	0.09310	N	0.999999	P	0.34837	0.472	B	0.28385	0.089	T	0.53563	-0.8421	10	0.56958	D	0.05	.	12.7235	0.57156	0.0:0.8343:0.1657:0.0	.	269	Q8TCB6	O51E1_HUMAN	C	270	ENSP00000380155:R270C	ENSP00000380155:R270C	R	+	1	0	OR51E1	4631140	0.000000	0.05858	0.696000	0.30242	0.835000	0.47333	0.649000	0.24843	2.650000	0.89964	0.655000	0.94253	CGT	OR51E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	C	NM_152430		4674564	1	no_errors	ENST00000396952	ensembl	human	known	70_37	missense	SNP	0.002	T	T	4674564	C	T	4674564	3	4	127	1	0	0	0	0	1	0	0	0	11118	768	27	2	810	2	OR51E1	11	4674564	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	4184856	4674564	130331952	83	19715										
OR2D2	120776	genome.wustl.edu	37	chr11	6912833	6912833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aattccttgtggctactttcCtcagagctgccttcacatcc	6	14	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:6912833C>T	ENST00000299459.2	-	1	997	c.899G>A	c.(898-900)aGg>aAg	p.R300K		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	300					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R300K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTACTTTCCTCAGAGCTGC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											72	65	68					11																	6912833		2201	4296	6497	SO:0001583	missense	120776			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.899G>A	11.37:g.6912833C>T	ENSP00000299459:p.Arg300Lys		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.R300K	ENST00000299459.2	37	c.899	CCDS31416.1	11	.	.	.	.	.	.	.	.	.	.	c	0.456	-0.891429	0.02491	.	.	ENSG00000166368	ENST00000299459	T	0.35605	1.3	5.12	4.21	0.49690	.	0.240154	0.29653	N	0.011550	T	0.22898	0.0553	L	0.28556	0.865	0.19775	N	0.999956	B	0.12630	0.006	B	0.17433	0.018	T	0.20505	-1.0273	10	0.06236	T	0.91	-9.6661	11.4887	0.50369	0.0:0.9129:0.0:0.0871	.	300	Q9H210	OR2D2_HUMAN	K	300	ENSP00000299459:R300K	ENSP00000299459:R300K	R	-	2	0	OR2D2	6869409	0.001000	0.12720	0.998000	0.56505	0.286000	0.27126	0.344000	0.19962	1.532000	0.49169	0.645000	0.84053	AGG	OR2D2	-	NULL		0.458	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	HGNC	protein_coding	OTTHUMT00000385986.1	C	NM_003700		6912833	-1	no_errors	ENST00000299459	ensembl	human	known	70_37	missense	SNP	0.968	T	T	6912833	C	T	6912833	3	4	127	1	0	0	0	0	1	0	0	0	11018	681	24	4	30	4	OR2D2	11	6912833	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	2238269	6912833	128093683	84	19716										
IMMP1L	196294	genome.wustl.edu	37	chr11	31477934	31477934	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttgcaatcacaatgtcacctCtgagggggaaaagtcaaaga	10	8	4	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:31477934C>G	ENST00000278200.1	-	5	390		c.e5-1		IMMP1L_ENST00000532287.1_Splice_Site|IMMP1L_ENST00000528161.1_Splice_Site|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000534812.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)						protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)	p.?(1)		breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AATGTCACCTCTGAGGGGGAA	0.348																																																	1	Unknown(1)	cervix(1)											48	47	47					11																	31477934		2202	4297	6499	SO:0001630	splice_region_variant	196294				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.195-1G>C	11.37:g.31477934C>G			D3DQZ7|Q96SH9	Splice_Site	SNP	-	e3-1	ENST00000278200.1	37	c.195-1	CCDS7874.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936148	0.73442	.	.	ENSG00000148950	ENST00000532287;ENST00000278200;ENST00000529749;ENST00000530023	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4219	0.94725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMMP1L	31434510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.116000	0.77119	2.585000	0.87301	0.655000	0.94253	.	IMMP1L	-	-		0.348	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1	C	NM_144981	Intron	31477934	-1	no_errors	ENST00000278200	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	31477934	C	G	31477934	5	3	127	1	0	0	0	0	0	0	1	0	7736	927	32	1	318	1	IMMP1L	11	31477934	Splice_Site	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	24565101	31477934	103528582	85	19717										
TTC17	55761	genome.wustl.edu	37	chr11	43429072	43429072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccttttgattcattacggccTtcatcttgatgccactaagc	6	12	3	2	rs369842736		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:43429072T>G	ENST00000039989.4	+	15	2023	c.2009T>G	c.(2008-2010)cTt>cGt	p.L670R	TTC17_ENST00000299240.6_Missense_Mutation_p.L670R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	670					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L670R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CATTACGGCCTTCATCTTGAT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											96	82	87					11																	43429072		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2009T>G	11.37:g.43429072T>G	ENSP00000039989:p.Leu670Arg		G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L670R	ENST00000039989.4	37	c.2009	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836944	0.71373	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.57436	0.4;0.4	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	N	0.11064	0.09	0.58432	D	0.999997	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.97;1.0;0.968	T	0.49103	-0.8974	10	0.10377	T	0.69	-13.0672	15.8349	0.78791	0.0:0.0:0.0:1.0	.	670;670;670	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	670	ENSP00000299240:L670R;ENSP00000039989:L670R	ENSP00000039989:L670R	L	+	2	0	TTC17	43385648	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.375000	0.79646	2.142000	0.66516	0.482000	0.46254	CTT	TTC17	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.423	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	T	NM_018259		43429072	1	no_errors	ENST00000039989	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43429072	T	G	43429072	3	3	127	1	0	0	0	0	1	0	0	0	16715	1609	56	5	2067	5	TTC17	11	43429072	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	11951138	43429072	91577444	86	19718										
OR8H2	390151	genome.wustl.edu	37	chr11	55872567	55872567	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tggctgacttcatccttatgGgactgacactttctgaagag	10	9	2	4			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:55872567G>T	ENST00000313503.1	+	1	49	c.49G>T	c.(49-51)Gga>Tga	p.G17*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G17I(1)|p.G17*(1)|p.G17R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATCCTTATGGGACTGACACT	0.423										HNSCC(53;0.14)																																							3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|cervix(1)											233	222	226					11																	55872567		2201	4296	6497	SO:0001587	stop_gained	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.49G>T	11.37:g.55872567G>T	ENSP00000323982:p.Gly17*		Q6IFC1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G17*	ENST00000313503.1	37	c.49	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	10.92	1.487179	0.26686	.	.	ENSG00000181767	ENST00000313503	.	.	.	3.74	3.74	0.42951	.	0.000000	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.105	0.81213	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000323982:G17X	G	+	1	0	OR8H2	55629143	1.000000	0.71417	0.050000	0.19076	0.027000	0.11550	4.458000	0.60095	2.032000	0.59987	0.440000	0.28878	GGA	OR8H2	-	NULL		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	G	NM_001005200		55872567	1	no_errors	ENST00000313503	ensembl	human	known	70_37	nonsense	SNP	0.935	T	T	55872567	G	T	55872567	4	4	127	1	0	0	0	0	0	1	0	0	11262	1233	43	4	51	4	OR8H2	11	55872567	Nonsense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	12443495	55872567	79133949	87	19719										
PYGM	5837	genome.wustl.edu	37	chr11	64525261	64525261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcatcctcacctgtgtgtccAcccacttggcaccctggctg	8	17	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:64525261A>G	ENST00000164139.3	-	5	1048	c.650T>C	c.(649-651)gTg>gCg	p.V217A	PYGM_ENST00000377432.3_Missense_Mutation_p.V129A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	217					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.V217A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTGTGTCCACCCACTTGGC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											60	55	57					11																	64525261		2201	4297	6498	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.650T>C	11.37:g.64525261A>G	ENSP00000164139:p.Val217Ala		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.V217A	ENST00000164139.3	37	c.650	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	A	17.61	3.433102	0.62844	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92495	-3.05;-3.05	5.48	5.48	0.80851	.	0.000000	0.51477	D	0.000090	D	0.92303	0.7558	M	0.67625	2.065	0.58432	D	0.999996	B;B	0.21606	0.058;0.016	B;B	0.36244	0.22;0.082	D	0.90484	0.4462	10	0.56958	D	0.05	-20.7576	13.5207	0.61566	1.0:0.0:0.0:0.0	.	129;217	A6NDY6;P11217	.;PYGM_HUMAN	A	129;217;198	ENSP00000366650:V129A;ENSP00000164139:V217A	ENSP00000164139:V217A	V	-	2	0	PYGM	64281837	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.576000	0.82467	2.088000	0.63022	0.460000	0.39030	GTG	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.612	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	A	NM_005609		64525261	-1	no_errors	ENST00000164139	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64525261	A	G	64525261	3	3	127	1	0	0	0	0	1	0	0	0	12892	159	6	5	1942	5	PYGM	11	64525261	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	8652694	64525261	70481255	88	19720										
SF3B2	10992	genome.wustl.edu	37	chr11	65825538	65825538	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctggcagatggatgacccctCtgtgggccccaagatccccc	11	16	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:65825538C>T	ENST00000322535.6	+	8	840	c.791C>T	c.(790-792)tCt>tTt	p.S264F	SF3B2_ENST00000528302.1_Missense_Mutation_p.S247F	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	264					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.S264F(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GATGACCCCTCTGTGGGCCCC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											22	21	21					11																	65825538		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.791C>T	11.37:g.65825538C>T	ENSP00000318861:p.Ser264Phe		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.S264F	ENST00000322535.6	37	c.791	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737871	0.49045	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000530322	.	.	.	5.8	4.84	0.62591	.	0.266015	0.43110	D	0.000603	T	0.40119	0.1104	L	0.34521	1.04	0.42968	D	0.994424	P	0.46512	0.879	B	0.37198	0.243	T	0.48445	-0.9035	9	0.72032	D	0.01	-25.7502	13.6801	0.62479	0.0:0.8319:0.1681:0.0	.	264	Q13435	SF3B2_HUMAN	F	247;264;262;263;258	.	ENSP00000318861:S264F	S	+	2	0	SF3B2	65582114	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	2.033000	0.41136	2.758000	0.94735	0.561000	0.74099	TCT	SF3B2	-	NULL		0.493	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	C			65825538	1	no_errors	ENST00000322535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65825538	C	T	65825538	3	4	127	1	0	0	0	0	1	0	0	0	14181	913	32	1	821	1	SF3B2	11	65825538	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	1300277	65825538	69180978	89	19721										
SLC29A2	3177	genome.wustl.edu	37	chr11	66130959	66130959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aggctccacaggaaagtcccAgggccaggaagaaggtcatg	14	10	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:66130959A>G	ENST00000357440.2	-	12	1547	c.1319T>C	c.(1318-1320)cTg>cCg	p.L440P	RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.L440P|RP11-867G23.8_ENST00000531602.1_Missense_Mutation_p.R70G|SLC29A2_ENST00000544554.1_Missense_Mutation_p.L440P|SLC29A2_ENST00000311161.7_3'UTR	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	440					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGAAAGTCCCAGGGCCAGGAA	0.612																																																	0													69	64	66					11																	66130959		2200	4295	6495	SO:0001583	missense	3177			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1319T>C	11.37:g.66130959A>G	ENSP00000350024:p.Leu440Pro		B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.L440P	ENST00000357440.2	37	c.1319	CCDS8137.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.322805|4.322805	0.81580|0.81580	.|.	.|.	ENSG00000174669|ENSG00000255468	ENST00000357440;ENST00000544554;ENST00000546034|ENST00000531602	D;D;D|.	0.84442|.	-1.85;-1.85;-1.85|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.76090|0.76090	0.3939|0.3939	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80183|0.80183	-0.1488|-0.1488	10|6	0.39692|0.87932	T|D	0.17|0	-3.9536|-3.9536	11.9637|11.9637	0.53023|0.53023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	440|.	Q14542|.	S29A2_HUMAN|.	P|G	440|70	ENSP00000350024:L440P;ENSP00000439456:L440P;ENSP00000440329:L440P|.	ENSP00000350024:L440P|ENSP00000435142:R70G	L|R	-|+	2|1	0|2	SLC29A2|RP11-867G23.8	65887535|65887535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.503000|8.503000	0.90509|0.90509	1.939000|1.939000	0.56221|0.56221	0.477000|0.477000	0.44152|0.44152	CTG|AGG	SLC29A2	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt		0.612	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC29A2	HGNC	protein_coding	OTTHUMT00000402093.1	A	NM_001532		66130959	-1	no_errors	ENST00000357440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66130959	A	G	66130959	3	3	127	1	0	0	0	0	1	0	0	0	14565	188	7	5	55	5	SLC29A2	11	66130959	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	305421	66130959	68875557	90	19722										
BBS1	582	genome.wustl.edu	37	chr11	66287093	66287093	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggagtccttctgtagacagtCatcaccaccatgaccacctt	7	14	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:66287093C>T	ENST00000318312.7	+	8	648	c.597C>T	c.(595-597)gtC>gtT	p.V199V	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Silent_p.V199V|CTD-3074O7.11_ENST00000419755.3_Silent_p.V236V|BBS1_ENST00000537537.1_Silent_p.V87V|BBS1_ENST00000455748.2_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	199					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.V199V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TGTAGACAGTCATCACCACCA	0.567									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												1	Substitution - coding silent(1)	cervix(1)											115	95	101					11																	66287093		2200	4295	6495	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.597C>T	11.37:g.66287093C>T			Q32MM9|Q32MN0|Q96SN4	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.V236	ENST00000318312.7	37	c.708	CCDS8142.1	11																																																																																			BBS1	-	NULL		0.567	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	C			66287093	1	no_errors	ENST00000419755	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66287093	C	T	66287093	2	4	127	1	0	0	0	0	0	0	0	1	1336	813	29	1		1	BBS1	11	66287093	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	156134	66287093	68719423	91	19723										
LRP5	4041	genome.wustl.edu	37	chr11	68181426	68181426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttgccatccccggcggccacCgctgcggctgcgcctcacac	11	20	1	0	rs369471051		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:68181426C>T	ENST00000294304.7	+	12	2879	c.2773C>T	c.(2773-2775)Cgc>Tgc	p.R925C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	925	EGF-like 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R925C(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCGGCCACCGCTGCGGCTG	0.642													C|||	1	0.000199681	0	0	5008	,	,		17069	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)						C	CYS/ARG	0,4400		0,0,2200	31	30	31		2773	5	1	11		31	2,8582	2.2+/-6.3	0,2,4290	no	missense	LRP5	NM_002335.2	180	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	benign	925/1616	68181426	2,12982	2200	4292	6492	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2773C>T	11.37:g.68181426C>T	ENSP00000294304:p.Arg925Cys		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R925C	ENST00000294304.7	37	c.2773	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352144	0.61183	0.0	2.33E-4	ENSG00000162337	ENST00000294304	D	0.96651	-4.08	5.02	5.02	0.67125	Epidermal growth factor-like (1);	0.133086	0.28182	U	0.016281	D	0.95503	0.8539	M	0.83312	2.635	0.53005	D	0.999969	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	D	0.93138	0.6539	10	0.56958	D	0.05	.	11.3879	0.49796	0.3065:0.6935:0.0:0.0	.	925;925	Q9UES7;O75197	.;LRP5_HUMAN	C	925	ENSP00000294304:R925C	ENSP00000294304:R925C	R	+	1	0	LRP5	67938002	0.667000	0.27484	1.000000	0.80357	0.833000	0.47200	0.371000	0.20450	2.601000	0.87937	0.561000	0.74099	CGC	LRP5	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	C	NM_002335		68181426	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68181426	C	T	68181426	3	4	127	1	0	0	0	0	1	0	0	0	8983	652	23	2	2819	2	LRP5	11	68181426	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	1894333	68181426	66825090	92	19724										
INTS4	92105	genome.wustl.edu	37	chr11	77632453	77632453	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agtgcctgaaggtgtgatctGagaacaatgctggcattgtt	13	6	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:77632453G>A	ENST00000534064.1	-	14	1731	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	INTS4_ENST00000525931.1_5'Flank	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	566					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.S566L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTGTGATCTGAGAACAATGC	0.408																																																	1	Substitution - Missense(1)	cervix(1)											160	138	146					11																	77632453		2200	4292	6492	SO:0001583	missense	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1697C>T	11.37:g.77632453G>A	ENSP00000434466:p.Ser566Leu		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.S566L	ENST00000534064.1	37	c.1697	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784731	0.70222	.	.	ENSG00000149262	ENST00000534064;ENST00000354849	D	0.85702	-2.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	L	0.51422	1.61	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	D	0.87742	0.2586	10	0.42905	T	0.14	-2.7737	17.6231	0.88087	0.0:0.0:1.0:0.0	.	566	Q96HW7	INT4_HUMAN	L	566;417	ENSP00000434466:S566L	ENSP00000346913:S417L	S	-	2	0	INTS4	77310101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.853000	0.92222	2.379000	0.81126	0.585000	0.79938	TCA	INTS4	-	NULL		0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77632453	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77632453	G	A	77632453	3	1	127	1	0	0	0	0	1	0	0	0	7800	1294	45	1	1234	1	INTS4	11	77632453	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	9451027	77632453	57374063	93	19725										
MMP12	4321	genome.wustl.edu	37	chr11	102742413	102742413	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caaaagcatgggctaggattCcacctttgccatcaaaagca	8	11	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr11:102742413C>A	ENST00000532855.1	-	0	632							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G179V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GGCTAGGATTCCACCTTTGCC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											50	48	49					11																	102742413		1913	4132	6045			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742413C>A			B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-		0.443	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102742413	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	rna	SNP	0.997	A	A	102742413	C	A	102742413	1	1	127	0	1	0	0	0	0	0	0	0	9674	855	30	3		3	MMP12	11	102742413	RNA	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	25109960	102742413	32264103	94	19726										
LTBR	4055	genome.wustl.edu	37	chr12	6494466	6494466	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cgctgccagccgggaatgttCtgtgctgcctgggccctcga	14	14	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:6494466C>T	ENST00000228918.4	+	4	719	c.393C>T	c.(391-393)ttC>ttT	p.F131F	LTBR_ENST00000539925.1_Silent_p.F112F|LTBR_ENST00000541102.1_Silent_p.F24F|LTBR_ENST00000543190.1_Silent_p.F24F	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	131					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.F131F(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CGGGAATGTTCTGTGCTGCCT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											54	57	56					12																	6494466		2203	4300	6503	SO:0001819	synonymous_variant	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.393C>T	12.37:g.6494466C>T			B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR	p.F131	ENST00000228918.4	37	c.393	CCDS8544.1	12																																																																																			LTBR	-	smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR		0.642	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	C			6494466	1	no_errors	ENST00000228918	ensembl	human	known	70_37	silent	SNP	0.987	T	T	6494466	C	T	6494466	2	4	127	1	0	0	0	0	0	0	0	1	9100	912	32	1		1	LTBR	12	6494466	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		6494466	127357429	95	19727										
GPR19	2842	genome.wustl.edu	37	chr12	12815011	12815011	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caccttccagtggtgaactgGagcaggacgaaaggcgtgct	14	10	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:12815011G>C	ENST00000540510.1	-	2	564	c.372C>G	c.(370-372)ctC>ctG	p.L124L	GPR19_ENST00000332427.2_Silent_p.L124L			P46093	GPR4_HUMAN	G protein-coupled receptor 19	76					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L124L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TGGTGAACTGGAGCAGGACGA	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											121	98	106					12																	12815011		2203	4300	6503	SO:0001819	synonymous_variant	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.372C>G	12.37:g.12815011G>C			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L124	ENST00000540510.1	37	c.372	CCDS8652.1	12																																																																																			GPR19	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.517	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	HGNC	protein_coding	OTTHUMT00000400662.1	G	NM_006143		12815011	-1	no_errors	ENST00000332427	ensembl	human	known	70_37	silent	SNP	0.945	C	C	12815011	G	C	12815011	2	2	127	1	0	0	0	0	0	0	0	1	6698	1161	41	1		1	GPR19	12	12815011	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	6320545	12815011	121036884	96	19728										
KCNJ8	3764	genome.wustl.edu	37	chr12	21919223	21919223	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aataggaaccacctccccttCaggtgtagttgttttcttga	8	10	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:21919223C>G	ENST00000240662.2	-	3	1054	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	237					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.E237Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	ACCTCCCCTTCAGGTGTAGTT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											121	110	114					12																	21919223		2203	4300	6503	SO:0001583	missense	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.709G>C	12.37:g.21919223C>G	ENSP00000240662:p.Glu237Gln		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.E237Q	ENST00000240662.2	37	c.709	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125010	0.77436	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.96716	-4.1	5.11	5.11	0.69529	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99513	1.0956	10	0.87932	D	0	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	237	Q15842	IRK8_HUMAN	Q	237	ENSP00000240662:E237Q	ENSP00000240662:E237Q	E	-	1	0	KCNJ8	21810490	1.000000	0.71417	0.309000	0.25155	0.790000	0.44656	7.638000	0.83328	2.667000	0.90743	0.563000	0.77884	GAA	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.488	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	C	NM_004982		21919223	-1	no_errors	ENST00000240662	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21919223	C	G	21919223	3	3	127	1	0	0	0	0	1	0	0	0	8076	835	29	1	569	1	KCNJ8	12	21919223	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	9104212	21919223	111932672	97	19729										
ARID2	196528	genome.wustl.edu	37	chr12	46211629	46211629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aacttgaaaaagatcctaaaAtcatcactttactacttgct	3	9	2	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:46211629A>G	ENST00000334344.6	+	5	767	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	ARID2_ENST00000422737.1_Missense_Mutation_p.I50V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	199					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.I199V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGATCCTAAAATCATCACTTT	0.348			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	cervix(1)											74	67	69					12																	46211629		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.595A>G	12.37:g.46211629A>G	ENSP00000335044:p.Ile199Val		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.I199V	ENST00000334344.6	37	c.595	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203395	0.58234	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.48522	0.81;0.81	5.56	5.56	0.83823	.	0.061201	0.64402	D	0.000002	T	0.35624	0.0938	N	0.22421	0.69	0.80722	D	1	P	0.39480	0.675	B	0.35413	0.202	T	0.35325	-0.9793	10	0.72032	D	0.01	-6.1707	15.6948	0.77488	1.0:0.0:0.0:0.0	.	199	Q68CP9	ARID2_HUMAN	V	199;50	ENSP00000335044:I199V;ENSP00000415650:I50V	ENSP00000335044:I199V	I	+	1	0	ARID2	44497896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.871000	0.75531	2.102000	0.63906	0.454000	0.30748	ATC	ARID2	-	NULL		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	A	XM_350875		46211629	1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46211629	A	G	46211629	3	3	127	1	0	0	0	0	1	0	0	0	915	101	4	5	613	5	ARID2	12	46211629	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	24292406	46211629	87640266	98	19730										
C12orf68	387856	genome.wustl.edu	37	chr12	48578079	48578079	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caagccctgtttgaggacgtGagggccatgaggggggccct	17	10	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:48578079G>C	ENST00000316554.3	+	1	714	c.174G>C	c.(172-174)gtG>gtC	p.V58V		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		58						cytoplasm (GO:0005737)		p.V58V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TTGAGGACGTGAGGGCCATGA	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											55	59	58					12																	48578079		2203	4300	6503	SO:0001819	synonymous_variant	387856																														ENST00000316554.3:c.174G>C	12.37:g.48578079G>C			Q96MK5|Q96N39	Silent	SNP	NULL	p.V58	ENST00000316554.3	37	c.174	CCDS31785.1	12																																																																																			C12orf68	-	NULL		0.642	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	G			48578079	1	no_errors	ENST00000316554	ensembl	human	known	70_37	silent	SNP	1.000	C	C	48578079	G	C	48578079	2	2	127	1	0	0	0	0	0	0	0	1	1714	1277	45	1		1	C12orf68	12	48578079	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	2366450	48578079	85273816	99	19731										
MLL2	8085	genome.wustl.edu	37	chr12	49428024	49428024	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tctagcaccttcagctgcatCtgtaggagctgctgggtatg	12	10	3	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:49428024C>T	ENST00000301067.7	-	38	10565	c.10566G>A	c.(10564-10566)caG>caA	p.Q3522Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3522	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3522Q(1)|p.Q3252Q(1)									TCAGCTGCATCTGTAGGAGCT	0.552																																																	2	Substitution - coding silent(2)	cervix(2)											92	94	93					12																	49428024		2021	4188	6209	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10566G>A	12.37:g.49428024C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3522	ENST00000301067.7	37	c.10566	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49428024	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49428024	C	T	49428024	2	4	127	1	0	0	0	0	0	0	0	1	9644	912	32	1		1	MLL2	12	49428024	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	849945	49428024	84423871	100	19732										
LRIG3	121227	genome.wustl.edu	37	chr12	59284455	59284455	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aacttcacttacagatatttGagctgtagggctggaaatgc	10	7	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:59284455G>C	ENST00000320743.3	-	4	793	c.507C>G	c.(505-507)ctC>ctG	p.L169L	LRIG3_ENST00000379141.4_Silent_p.L109L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	169					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L169L(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACAGATATTTGAGCTGTAGGG	0.338			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - coding silent(1)	cervix(1)											87	89	88					12																	59284455		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.507C>G	12.37:g.59284455G>C			Q6UXL7|Q8NC72	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L169	ENST00000320743.3	37	c.507	CCDS8960.1	12																																																																																			LRIG3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.338	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	G	NM_153377		59284455	-1	no_errors	ENST00000320743	ensembl	human	known	70_37	silent	SNP	1.000	C	C	59284455	G	C	59284455	2	2	127	1	0	0	0	0	0	0	0	1	8969	1277	45	1		1	LRIG3	12	59284455	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	9856431	59284455	74567440	101	19733										
BEST3	144453	genome.wustl.edu	37	chr12	70070807	70070807	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tccaaaaactggcgtccaatCaggcacgcaaagaagaaggt	10	10	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:70070807C>G	ENST00000330891.5	-	7	982	c.756G>C	c.(754-756)ctG>ctC	p.L252L	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.L146L|BEST3_ENST00000331471.4_Silent_p.L252L|BEST3_ENST00000488961.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	252					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L252L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCGTCCAATCAGGCACGCAA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											91	91	91					12																	70070807		2029	4190	6219	SO:0001819	synonymous_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.756G>C	12.37:g.70070807C>G			B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	pfam_Bestrophin/UPF0187	p.L252	ENST00000330891.5	37	c.756	CCDS8992.2	12																																																																																			BEST3	-	pfam_Bestrophin/UPF0187		0.512	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70070807	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	silent	SNP	1.000	G	G	70070807	C	G	70070807	2	3	127	1	0	0	0	0	0	0	0	1	1407	813	29	1		1	BEST3	12	70070807	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	10786352	70070807	63781088	102	19734										
MYF6	4618	genome.wustl.edu	37	chr12	81101787	81101787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cccccactgaccggcgaaaaGccgccaccctgcgcgaaagg	11	18	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:81101787G>T	ENST00000228641.3	+	1	511	c.289G>T	c.(289-291)Gcc>Tcc	p.A97S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	97	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A97S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCGGCGAAAAGCCGCCACCCT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											37	42	40					12																	81101787		2202	4300	6502	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.289G>T	12.37:g.81101787G>T	ENSP00000228641:p.Ala97Ser		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.A97S	ENST00000228641.3	37	c.289	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809271	0.90707	.	.	ENSG00000111046	ENST00000228641	D	0.98060	-4.69	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (1);Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99804	1.1037	10	0.87932	D	0	-43.1342	19.6517	0.95819	0.0:0.0:1.0:0.0	.	97	P23409	MYF6_HUMAN	S	97	ENSP00000228641:A97S	ENSP00000228641:A97S	A	+	1	0	MYF6	79625918	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.659000	0.83766	2.662000	0.90505	0.655000	0.94253	GCC	MYF6	-	pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,pfscan_HLH_dom		0.632	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	G	NM_002469		81101787	1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81101787	G	T	81101787	3	4	127	1	0	0	0	0	1	0	0	0	10051	971	34	4	291	4	MYF6	12	81101787	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	11030980	81101787	52750108	103	19735										
CABP1	9478	genome.wustl.edu	37	chr12	121098880	121098880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cctgccttctctagtttgacAccaatggtgatggggaaata	10	9	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:121098880A>G	ENST00000316803.3	+	5	1080	c.946A>G	c.(946-948)Acc>Gcc	p.T316A	CABP1_ENST00000288616.3_Missense_Mutation_p.T173A|CABP1_ENST00000453000.1_Missense_Mutation_p.T252A|CABP1_ENST00000351200.2_Missense_Mutation_p.T113A	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	316	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.T173A(1)|p.T316A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTAGTTTGACACCAATGGTGA	0.542																																																	2	Substitution - Missense(2)	cervix(2)											83	77	79					12																	121098880		2203	4300	6503	SO:0001583	missense	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.946A>G	12.37:g.121098880A>G	ENSP00000317310:p.Thr316Ala		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T316A	ENST00000316803.3	37	c.946	CCDS31913.1	12	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007868	0.54361	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.37	5.37	0.77165	EF-hand-like domain (1);	0.053112	0.85682	D	0.000000	T	0.61515	0.2353	L	0.28740	0.885	0.80722	D	1	B;B;B;B	0.15473	0.013;0.0;0.002;0.005	B;B;B;B	0.14578	0.011;0.001;0.002;0.008	T	0.59616	-0.7421	10	0.62326	D	0.03	-22.8051	15.3845	0.74687	1.0:0.0:0.0:0.0	.	252;113;173;316	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	A	316;173;113;252	ENSP00000317310:T316A;ENSP00000288616:T173A;ENSP00000288615:T113A;ENSP00000398959:T252A	ENSP00000288616:T173A	T	+	1	0	CABP1	119583263	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.966000	0.76073	2.028000	0.59812	0.533000	0.62120	ACC	CABP1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.542	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	A	NM_001033677		121098880	1	no_errors	ENST00000316803	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121098880	A	G	121098880	3	3	127	1	0	0	0	0	1	0	0	0	2536	159	6	5	1197	5	CABP1	12	121098880	Missense_Mutation	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08	39997093	121098880	12753015	104	19736										
TMEM120B	144404	genome.wustl.edu	37	chr12	122209422	122209422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gacccatttatcagaagtttCgcaaccagttcttagcattt	6	10	2	1	rs560432972		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr12:122209422C>T	ENST00000449592.2	+	8	747	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	TMEM120B_ENST00000540377.1_Intron	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	216						integral component of membrane (GO:0016021)		p.R216C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCAGAAGTTTCGCAACCAGTT	0.488													C|||	1	0.000199681	0	0	5008	,	,		18433	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	cervix(2)											205	181	189					12																	122209422		1863	4106	5969	SO:0001583	missense	144404			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.646C>T	12.37:g.122209422C>T	ENSP00000404991:p.Arg216Cys		A0PK01|B3KX33	Missense_Mutation	SNP	pfam_TMPIT	p.R216C	ENST00000449592.2	37	c.646	CCDS41852.1	12	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943253	0.53079	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.35973	1.28;1.28	5.43	5.43	0.79202	.	0.049151	0.85682	D	0.000000	T	0.66096	0.2755	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71718	-0.4508	10	0.87932	D	0	-27.3826	17.9939	0.89177	0.0:1.0:0.0:0.0	.	216	A0PK00	T120B_HUMAN	C	216;195	ENSP00000404991:R216C;ENSP00000442105:R195C	ENSP00000345152:R216C	R	+	1	0	TMEM120B	120693805	0.992000	0.36948	0.921000	0.36526	0.291000	0.27294	1.867000	0.39499	2.536000	0.85505	0.514000	0.50259	CGC	TMEM120B	-	pfam_TMPIT		0.488	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	C	NM_001080825		122209422	1	no_errors	ENST00000342607	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122209422	C	T	122209422	3	4	127	1	0	0	0	0	1	0	0	0	16064	884	31	1	676	1	TMEM120B	12	122209422	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	1110542	122209422	11642473	105	19737										
NALCN	259232	genome.wustl.edu	37	chr13	101777027	101777027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctgatgctgaaaacagacttGcgaagctgaaaatgataaga	10	6	0	6			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr13:101777027G>A	ENST00000251127.6	-	18	2205	c.2124C>T	c.(2122-2124)cgC>cgT	p.R708R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R708R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACAGACTTGCGAAGCTGAA	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											123	118	120					13																	101777027		2203	4300	6503	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2124C>T	13.37:g.101777027G>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.R708	ENST00000251127.6	37	c.2124	CCDS9498.1	13																																																																																			NALCN	-	NULL		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		101777027	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101777027	G	A	101777027	2	1	127	1	0	0	0	0	0	0	0	1	10171	1306	46	4		4	NALCN	13	101777027	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		101777027	13392851	106	19738										
LIG4	3981	genome.wustl.edu	37	chr13	108863389	108863389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccataggccattctctctctTtctagctgaggaagaattag	8	10	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr13:108863389T>G	ENST00000356922.4	-	2	500	c.228A>C	c.(226-228)gaA>gaC	p.E76D	LIG4_ENST00000442234.1_Missense_Mutation_p.E76D|LIG4_ENST00000405925.1_Missense_Mutation_p.E76D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	76					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.E76D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTCTCTCTCTTTCTAGCTGAG	0.353								Non-homologous end-joining																																									1	Substitution - Missense(1)	cervix(1)											103	107	105					13																	108863389		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.228A>C	13.37:g.108863389T>G	ENSP00000349393:p.Glu76Asp		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.E76D	ENST00000356922.4	37	c.228	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115149	0.06881	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.15603	2.41;2.41;2.41	6.05	0.837	0.18896	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	N	0.02665	-0.54	0.54753	D	0.999984	B	0.22146	0.065	B	0.23275	0.045	T	0.42120	-0.9470	10	0.02654	T	1	.	9.5735	0.39442	0.0:0.2619:0.0:0.7381	.	76	P49917	DNLI4_HUMAN	D	76	ENSP00000385955:E76D;ENSP00000402030:E76D;ENSP00000349393:E76D	ENSP00000349393:E76D	E	-	3	2	LIG4	107661390	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.377000	0.20552	0.144000	0.18951	0.523000	0.50628	GAA	LIG4	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	T	NM_002312		108863389	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.998	G	G	108863389	T	G	108863389	3	3	127	1	0	0	0	0	1	0	0	0	8803	1838	64	5	2511	5	LIG4	13	108863389	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	7086362	108863389	6306489	107	19739										
OR11H6	122748	genome.wustl.edu	37	chr14	20692813	20692813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agtcttcgaaacaaagacatGaaagatgctctaaagagagt	9	6	2	4			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:20692813G>A	ENST00000315519.2	+	1	1023	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M315I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ACAAAGACATGAAAGATGCTC	0.393																																																	1	Substitution - Missense(1)	cervix(1)											86	91	90					14																	20692813		2203	4300	6503	SO:0001583	missense	122748				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.945G>A	14.37:g.20692813G>A	ENSP00000319071:p.Met315Ile		Q6IF08	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M315I	ENST00000315519.2	37	c.945	CCDS32033.1	14	.	.	.	.	.	.	.	.	.	.	G	7.228	0.598684	0.13939	.	.	ENSG00000176219	ENST00000315519	T	0.34859	1.34	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000005	T	0.28200	0.0696	N	0.25789	0.76	0.29126	N	0.879947	B	0.17038	0.02	B	0.14578	0.011	T	0.09862	-1.0655	10	0.35671	T	0.21	.	16.0522	0.80772	0.0:0.0:1.0:0.0	.	315	Q8NGC7	O11H6_HUMAN	I	315	ENSP00000319071:M315I	ENSP00000319071:M315I	M	+	3	0	OR11H6	19762653	0.042000	0.20092	1.000000	0.80357	0.471000	0.32888	-0.264000	0.08658	2.648000	0.89879	0.471000	0.43371	ATG	OR11H6	-	prints_GPCR_Rhodpsn		0.393	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	HGNC	protein_coding	OTTHUMT00000410676.1	G			20692813	1	no_errors	ENST00000315519	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20692813	G	A	20692813	3	1	127	1	0	0	0	0	1	0	0	0	10953	1290	45	1	947	1	OR11H6	14	20692813	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		20692813	86656727	108	19740										
LRRC16B	90668	genome.wustl.edu	37	chr14	24525915	24525915	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caagactgccatttcccctcGaggtactcgcaccaaggacc	8	16	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:24525915G>C	ENST00000342740.5	+	12	1104	c.950G>C	c.(949-951)cGa>cCa	p.R317P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	317						cytoplasm (GO:0005737)		p.R317P(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATTTCCCCTCGAGGTACTCGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											87	85	86					14																	24525915		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.950G>C	14.37:g.24525915G>C	ENSP00000340467:p.Arg317Pro		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R317P	ENST00000342740.5	37	c.950	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213912	0.39102	.	.	ENSG00000186648	ENST00000342740	T	0.53423	0.62	5.78	4.89	0.63831	.	0.063063	0.64402	D	0.000012	T	0.53514	0.1801	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	P	0.52267	0.694	T	0.56974	-0.7890	10	0.59425	D	0.04	-7.3039	11.0694	0.47995	0.0855:0.0:0.9145:0.0	.	317	Q8ND23	LR16B_HUMAN	P	317	ENSP00000340467:R317P	ENSP00000340467:R317P	R	+	2	0	LRRC16B	23595755	0.902000	0.30710	1.000000	0.80357	0.927000	0.56198	1.360000	0.34125	1.462000	0.47948	0.563000	0.77884	CGA	LRRC16B	-	NULL		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	G	NM_138360		24525915	1	no_errors	ENST00000342740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24525915	G	C	24525915	3	2	127	1	0	0	0	0	1	0	0	0	8995	1058	37	1	996	1	LRRC16B	14	24525915	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	3833102	24525915	82823625	109	19741										
ADCY4	196883	genome.wustl.edu	37	chr14	24787690	24787690	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caggaagtaggtgcagagctGccctttgcctttcaccttga	11	11	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:24787690G>A	ENST00000310677.4	-	26	3279	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	ADCY4_ENST00000554068.2_Nonsense_Mutation_p.Q1056*|ADCY4_ENST00000418030.2_Nonsense_Mutation_p.Q1056*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1056					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.Q1056*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTGCAGAGCTGCCCTTTGCCT	0.542																																																	1	Substitution - Nonsense(1)	cervix(1)											144	128	134					14																	24787690		2203	4300	6503	SO:0001587	stop_gained	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3166C>T	14.37:g.24787690G>A	ENSP00000312126:p.Gln1056*		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Nonsense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q1056*	ENST00000310677.4	37	c.3166	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.267992	0.98735	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	.	.	.	5.52	4.62	0.57501	.	0.158904	0.29752	N	0.011291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.3768	0.66884	0.0:0.1485:0.8515:0.0	.	.	.	.	X	1056	.	ENSP00000312126:Q1056X	Q	-	1	0	ADCY4	23857530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	1.281000	0.44480	0.655000	0.94253	CAG	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.542	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24787690	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	24787690	G	A	24787690	4	1	127	1	0	0	0	0	0	1	0	0	296	1328	46	4	71	4	ADCY4	14	24787690	Nonsense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	261775	24787690	82561850	110	19742										
DDHD1	80821	genome.wustl.edu	37	chr14	53558534	53558534	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tttgataattcttccttggtCcattttctgcccaatgccat	5	11	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:53558534C>G	ENST00000323669.5	-	4	1257	c.1258G>C	c.(1258-1260)Gac>Cac	p.D420H	DDHD1_ENST00000357758.3_Missense_Mutation_p.D420H|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427H	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363																																																	2	Substitution - Missense(2)	cervix(2)											172	163	166					14																	53558534		2203	4300	6503	SO:0001583	missense	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1258G>C	14.37:g.53558534C>G	ENSP00000327104:p.Asp420His		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.D420H	ENST00000323669.5	37	c.1258	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659173	0.88154	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.52526	0.66;0.66;0.66	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.983	D;D;D	0.91635	0.92;0.999;0.92	T	0.75439	-0.3317	10	0.72032	D	0.01	-20.9578	19.563	0.95380	0.0:1.0:0.0:0.0	.	427;420;420	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	H	420;427;420;291	ENSP00000327104:D420H;ENSP00000378970:D427H;ENSP00000350401:D420H	ENSP00000327104:D420H	D	-	1	0	DDHD1	52628284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.630000	0.89119	0.561000	0.74099	GAC	DDHD1	-	NULL		0.363	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	C			53558534	-1	no_errors	ENST00000323669	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53558534	C	G	53558534	3	3	127	1	0	0	0	0	1	0	0	0	4331	855	30	1	1484	1	DDHD1	14	53558534	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	28770844	53558534	53791006	111	19743										
ARID4A	5926	genome.wustl.edu	37	chr14	58831088	58831088	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctttagaaaccctgaagttaGaagttggagagaatgaacaa	10	5	0	5			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:58831088G>C	ENST00000355431.3	+	20	2654	c.2281G>C	c.(2281-2283)Gaa>Caa	p.E761Q	ARID4A_ENST00000395168.3_Missense_Mutation_p.E761Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E761Q|ARID4A_ENST00000348476.3_Missense_Mutation_p.E761Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	761					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E761Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGAAGTTAGAAGTTGGAGA	0.333																																																	2	Substitution - Missense(2)	cervix(2)											50	60	56					14																	58831088		2200	4297	6497	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2281G>C	14.37:g.58831088G>C	ENSP00000347602:p.Glu761Gln		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E761Q	ENST00000355431.3	37	c.2281	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856010	0.51376	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.22134	2.26;2.24;2.21;2.24;1.97	5.8	5.8	0.92144	.	0.483892	0.24472	N	0.038235	T	0.21550	0.0519	L	0.32530	0.975	0.52099	D	0.999944	B;B;B	0.18310	0.027;0.001;0.001	B;B;B	0.16289	0.015;0.003;0.003	T	0.02214	-1.1194	10	0.54805	T	0.06	-10.7092	20.0432	0.97601	0.0:0.0:1.0:0.0	.	761;761;761	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Q	761;761;761;761;439	ENSP00000347602:E761Q;ENSP00000344556:E761Q;ENSP00000378597:E761Q;ENSP00000397368:E761Q;ENSP00000416053:E439Q	ENSP00000344556:E761Q	E	+	1	0	ARID4A	57900841	1.000000	0.71417	0.906000	0.35671	0.903000	0.53119	5.065000	0.64344	2.740000	0.93945	0.650000	0.86243	GAA	ARID4A	-	NULL		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58831088	1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	0.998	C	C	58831088	G	C	58831088	3	2	127	1	0	0	0	0	1	0	0	0	919	943	33	1	2355	1	ARID4A	14	58831088	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	5272554	58831088	48518452	112	19744										
SYNE2	23224	genome.wustl.edu	37	chr14	64596563	64596563	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gagtggccaaactaagagatGaaggggagaggcttcattta	14	5	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:64596563G>A	ENST00000344113.4	+	75	14295	c.14083G>A	c.(14083-14085)Gaa>Aaa	p.E4695K	SYNE2_ENST00000357395.3_Missense_Mutation_p.E1080K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1080K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4612K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4695K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1329K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4695					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E4695K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTAAGAGATGAAGGGGAGAG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											137	136	136					14																	64596563		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14083G>A	14.37:g.64596563G>A	ENSP00000341781:p.Glu4695Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4695K	ENST00000344113.4	37	c.14083	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.289	0.817365	0.16607	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.57595	1.4;1.4;1.4;0.39;1.4;1.4	5.46	3.59	0.41128	.	0.411393	0.20688	N	0.087507	T	0.41949	0.1181	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.33637	0.097;0.112;0.42	B;B;B	0.32928	0.028;0.119;0.155	T	0.26430	-1.0103	10	0.32370	T	0.25	.	3.3505	0.07150	0.1457:0.3311:0.3987:0.1245	.	1080;4695;4695	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4695;1080;4695;4612;4612;1329;1080	ENSP00000350719:E4695K;ENSP00000349969:E1080K;ENSP00000341781:E4695K;ENSP00000452570:E4612K;ENSP00000450831:E1329K;ENSP00000378249:E1080K	ENSP00000261678:E4612K	E	+	1	0	SYNE2	63666316	0.938000	0.31826	0.682000	0.30024	0.326000	0.28443	1.542000	0.36137	0.764000	0.33197	0.655000	0.94253	GAA	SYNE2	-	NULL		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64596563	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.299	A	A	64596563	G	A	64596563	3	1	127	1	0	0	0	0	1	0	0	0	15476	1291	45	1	14377	1	SYNE2	14	64596563	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	5765475	64596563	42752977	113	19745										
PSEN1	5663	genome.wustl.edu	37	chr14	73678482	73678482	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cactttctcttgaaggcacaGaaagggagtcacaagacact	9	10	2	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:73678482G>A	ENST00000324501.5	+	10	1233	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PSEN1_ENST00000261970.3_Intron|PSEN1_ENST00000357710.4_Missense_Mutation_p.E317K|PSEN1_ENST00000557511.1_Intron|PSEN1_ENST00000394164.1_Missense_Mutation_p.E317K|PSEN1_ENST00000344094.3_Silent_p.Q351Q|PSEN1_ENST00000406768.1_Missense_Mutation_p.E229K	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	321					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.E321*(1)|p.E321K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGAAGGCACAGAAAGGGAGTC	0.418																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	cervix(1)|breast(1)											113	104	107					14																	73678482		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.961G>A	14.37:g.73678482G>A	ENSP00000326366:p.Glu321Lys		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.E321K	ENST00000324501.5	37	c.961	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177304	0.38413	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000394164;ENST00000406768	D;D;D;D	0.99541	-6.12;-6.12;-6.12;-6.12	5.41	4.48	0.54585	.	0.811019	0.11579	N	0.549919	D	0.98102	0.9374	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.17722	0.015;0.019	D	0.95959	0.8960	10	0.13853	T	0.58	-0.0795	15.6963	0.77502	0.0:0.0:0.8629:0.1371	.	317;321	P49768-2;P49768	.;PSN1_HUMAN	K	321;317;317;229	ENSP00000326366:E321K;ENSP00000350342:E317K;ENSP00000377719:E317K;ENSP00000385948:E229K	ENSP00000326366:E321K	E	+	1	0	PSEN1	72748235	0.530000	0.26330	0.021000	0.16686	0.209000	0.24338	3.413000	0.52686	2.816000	0.96949	0.561000	0.74099	GAA	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22		0.418	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	G			73678482	1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	0.034	A	A	73678482	G	A	73678482	3	1	127	1	0	0	0	0	1	0	0	0	12677	943	33	1	991	1	PSEN1	14	73678482	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	9081919	73678482	33671058	114	19746										
VIPAR	63894	genome.wustl.edu	37	chr14	77919688	77919688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	actcgctccaggtcatcatcGtcatcatcatccacgaagtc	6	15	5	0	rs566440125		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:77919688G>A	ENST00000553888.1	-	3	660	c.150C>T	c.(148-150)gaC>gaT	p.D50D	VIPAS39_ENST00000448935.2_Silent_p.D50D|VIPAS39_ENST00000556412.1_Silent_p.D76D|VIPAS39_ENST00000327028.4_Silent_p.D50D|VIPAS39_ENST00000343765.2_Silent_p.D50D|VIPAS39_ENST00000557658.1_Silent_p.D50D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	50					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.D50D(1)									GGTCATCATCGTCATCATCAT	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											293	287	289					14																	77919688		2203	4300	6503	SO:0001819	synonymous_variant	63894			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.150C>T	14.37:g.77919688G>A			B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	pfam_Golgin_subfamily_A_member_5	p.D50	ENST00000553888.1	37	c.150	CCDS9862.1	14																																																																																			VIPAS39	-	pfam_Golgin_subfamily_A_member_5		0.517	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	G	NM_022067		77919688	-1	no_errors	ENST00000343765	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77919688	G	A	77919688	2	1	127	1	0	0	0	0	0	0	0	1	17199	1136	40	2		2	VIPAR	14	77919688	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	4241206	77919688	29429852	115	19747										
WARS	7453	genome.wustl.edu	37	chr14	100820164	100820164	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agatacttctcgtcatccgtCatctggatgaccaagggcac	9	12	4	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:100820164C>T	ENST00000355338.2	-	6	1203	c.585G>A	c.(583-585)atG>atA	p.M195I	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.M195I|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Missense_Mutation_p.M154I|WARS_ENST00000392882.2_Missense_Mutation_p.M195I|WARS_ENST00000344102.5_Missense_Mutation_p.M154I|WARS_ENST00000556645.1_Missense_Mutation_p.M154I	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	195					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.M195I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CGTCATCCGTCATCTGGATGA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											141	122	128					14																	100820164		2203	4300	6503	SO:0001583	missense	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.585G>A	14.37:g.100820164C>T	ENSP00000347495:p.Met195Ile		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.M195I	ENST00000355338.2	37	c.585	CCDS9960.1	14	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416810	0.62511	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297	T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;0.97	6.0	6.0	0.97389	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.045596	0.85682	D	0.000000	T	0.44244	0.1284	N	0.20357	0.565	0.45554	D	0.998506	B	0.09022	0.002	B	0.17979	0.02	T	0.35176	-0.9799	10	0.15499	T	0.54	-5.9271	10.4655	0.44604	0.0:0.8523:0.0:0.1477	.	195	P23381	SYWC_HUMAN	I	195;154;195;154;195;154;154;154;195;154	ENSP00000376620:M195I;ENSP00000351481:M154I;ENSP00000347495:M195I;ENSP00000339485:M154I;ENSP00000451460:M195I;ENSP00000451887:M154I;ENSP00000451490:M154I;ENSP00000451251:M154I;ENSP00000450500:M195I;ENSP00000451599:M154I	ENSP00000339485:M154I	M	-	3	0	WARS	99889917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.152000	0.42272	2.848000	0.98002	0.655000	0.94253	ATG	WARS	-	pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase		0.527	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WARS	HGNC	protein_coding	OTTHUMT00000414236.1	C	NM_004184		100820164	-1	no_errors	ENST00000355338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100820164	C	T	100820164	3	4	127	1	0	0	0	0	1	0	0	0	17280	826	29	1	854	1	WARS	14	100820164	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	22900476	100820164	6529376	116	19748										
AHNAK2	113146	genome.wustl.edu	37	chr14	105418845	105418845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcggccagggacaggtccccCtccagccacgcaccatccag	10	19	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr14:105418845C>T	ENST00000333244.5	-	7	3062	c.2943G>A	c.(2941-2943)gaG>gaA	p.E981E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	981						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E981E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAGGTCCCCCTCCAGCCACG	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											209	236	227					14																	105418845		2040	4189	6229	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2943G>A	14.37:g.105418845C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E981	ENST00000333244.5	37	c.2943	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105418845	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.065	T	T	105418845	C	T	105418845	2	4	127	1	0	0	0	0	0	0	0	1	415	680	24	4		4	AHNAK2	14	105418845	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	4598681	105418845	1930695	117	19749										
GABRB3	2562	genome.wustl.edu	37	chr15	26866676	26866676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgaaaatacatggttaaggtAtaatcctggggggaaaagaa	12	3	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:26866676A>G	ENST00000311550.5	-	4	357	c.246T>C	c.(244-246)taT>taC	p.Y82Y	GABRB3_ENST00000541819.2_Silent_p.Y138Y|GABRB3_ENST00000400188.3_Silent_p.Y11Y|GABRB3_ENST00000545868.1_5'UTR|GABRB3_ENST00000299267.4_Silent_p.Y82Y	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	82					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.Y82Y(2)|p.Y138Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGTTAAGGTATAATCCTGGG	0.453																																																	3	Substitution - coding silent(3)	cervix(3)											57	59	58					15																	26866676		2203	4300	6503	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.246T>C	15.37:g.26866676A>G			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y82	ENST00000311550.5	37	c.246	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	A			26866676	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	silent	SNP	1.000	G	G	26866676	A	G	26866676	2	3	127	1	0	0	0	0	0	0	0	1	6186	456	16	5		5	GABRB3	15	26866676	Silent	SNP	A	TCGA-FU-A23L-01A-11D-A16O-08		26866676	75664716	118	19750										
MAP1A	4130	genome.wustl.edu	37	chr15	43815178	43815178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aggagctgtcttctgagcccCagacacccccagcccagaag	10	16	2	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:43815178C>A	ENST00000300231.5	+	4	1957	c.1507C>A	c.(1507-1509)Cag>Aag	p.Q503K	MAP1A_ENST00000382031.1_Missense_Mutation_p.Q741K|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q503K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	503	9 X 3 AA repeats of K-K-[DE].				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTCTGAGCCCCAGACACCCCC	0.557																																																	0													47	49	48					15																	43815178		1970	4134	6104	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1507C>A	15.37:g.43815178C>A	ENSP00000300231:p.Gln503Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.Q503K	ENST00000300231.5	37	c.1507	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	7.941	0.742795	0.15642	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.41758	0.99;0.99;0.99	5.07	5.07	0.68467	.	0.316167	0.17722	N	0.164182	T	0.19805	0.0476	N	0.08118	0	0.21822	N	0.999529	B	0.06786	0.001	B	0.01281	0.0	T	0.12502	-1.0545	10	0.02654	T	1	-8.6577	11.644	0.51250	0.2872:0.7128:0.0:0.0	.	503	P78559	MAP1A_HUMAN	K	741;503;503;503	ENSP00000371462:Q741K;ENSP00000382380:Q503K;ENSP00000300231:Q503K	ENSP00000300231:Q503K	Q	+	1	0	MAP1A	41602470	0.321000	0.24625	1.000000	0.80357	0.875000	0.50365	0.878000	0.28126	2.804000	0.96469	0.655000	0.94253	CAG	MAP1A	-	NULL		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43815178	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43815178	C	A	43815178	3	1	127	1	0	0	0	0	1	0	0	0	9250	595	21	4	1509	4	MAP1A	15	43815178	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	16948502	43815178	58716214	119	19751										
GCNT3	9245	genome.wustl.edu	37	chr15	59911513	59911513	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cgacatctcagacatgacttCtattgccaggctggtcaagt	9	11	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:59911513C>G	ENST00000396065.1	+	3	1524	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	GCNT3_ENST00000560585.1_Missense_Mutation_p.S359C	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	359					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S359C(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACATGACTTCTATTGCCAGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											133	118	123					15																	59911513		2190	4290	6480	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1076C>G	15.37:g.59911513C>G	ENSP00000379377:p.Ser359Cys			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.S359C	ENST00000396065.1	37	c.1076	CCDS10172.1	15	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343417	0.82022	.	.	ENSG00000140297	ENST00000396065	T	0.12255	2.7	5.38	5.38	0.77491	.	0.107337	0.64402	D	0.000006	T	0.22666	0.0547	L	0.34521	1.04	0.39606	D	0.969812	P	0.42941	0.794	P	0.52267	0.694	T	0.00967	-1.1497	10	0.39692	T	0.17	.	19.1515	0.93491	0.0:1.0:0.0:0.0	.	359	O95395	GCNT3_HUMAN	C	359	ENSP00000379377:S359C	ENSP00000379377:S359C	S	+	2	0	GCNT3	57698805	0.736000	0.28164	0.945000	0.38365	0.983000	0.72400	6.042000	0.70996	2.514000	0.84764	0.655000	0.94253	TCT	GCNT3	-	pfam_Glyco_trans_14		0.562	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	C	NM_004751		59911513	1	no_errors	ENST00000396065	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59911513	C	G	59911513	3	3	127	1	0	0	0	0	1	0	0	0	6321	913	32	1	1078	1	GCNT3	15	59911513	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	16096335	59911513	42619879	120	19752										
LINS1	55180	genome.wustl.edu	37	chr15	101110021	101110021	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgtttggttggagctttggtCttggacaagtgaggggacac	16	5	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr15:101110021C>G	ENST00000314742.8	-	7	1918	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	566								p.D566H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GAGCTTTGGTCTTGGACAAGT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											90	83	85					15																	101110021		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1696G>C	15.37:g.101110021C>G	ENSP00000318423:p.Asp566His		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.D566H	ENST00000314742.8	37	c.1696	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208421	0.58343	.	.	ENSG00000140471	ENST00000314742	T	0.11063	2.81	5.65	4.73	0.59995	.	0.883497	0.10012	N	0.727028	T	0.09949	0.0244	L	0.29908	0.895	0.25032	N	0.99127	B	0.27700	0.186	B	0.26969	0.075	T	0.11203	-1.0597	10	0.48119	T	0.1	-0.411	10.9202	0.47161	0.0:0.7597:0.1644:0.0759	.	566	Q8NG48	LINES_HUMAN	H	566	ENSP00000318423:D566H	ENSP00000318423:D566H	D	-	1	0	LINS	98927544	0.200000	0.23398	0.773000	0.31616	0.635000	0.38103	1.566000	0.36396	2.658000	0.90341	0.655000	0.94253	GAC	LINS	-	NULL		0.448	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	C	NM_018148		101110021	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.127	G	G	101110021	C	G	101110021	3	3	127	1	0	0	0	0	1	0	0	0	8839	913	32	1	581	1	LINS1	15	101110021	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	41198508	101110021	1421371	121	19753										
ADCY9	115	genome.wustl.edu	37	chr16	4165289	4165289	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccccagagctgctgcagctaGaggagatgctgtatttgcag	13	10	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:4165289G>C	ENST00000294016.3	-	2	693	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	52					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S52C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											80	60	67					16																	4165289		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.155C>G	16.37:g.4165289G>C	ENSP00000294016:p.Ser52Cys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S52C	ENST00000294016.3	37	c.155	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851235	0.51270	.	.	ENSG00000162104	ENST00000294016	T	0.30448	1.53	4.82	4.82	0.62117	.	0.119337	0.64402	D	0.000017	T	0.51618	0.1685	L	0.54323	1.7	0.45150	D	0.998166	D	0.89917	1.0	D	0.83275	0.996	T	0.51988	-0.8635	10	0.52906	T	0.07	.	16.8996	0.86110	0.0:0.0:1.0:0.0	.	52	O60503	ADCY9_HUMAN	C	52	ENSP00000294016:S52C	ENSP00000294016:S52C	S	-	2	0	ADCY9	4105290	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.381000	0.73163	2.237000	0.73441	0.555000	0.69702	TCT	ADCY9	-	NULL		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	G			4165289	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4165289	G	C	4165289	3	2	127	1	0	0	0	0	1	0	0	0	301	942	33	1	3946	1	ADCY9	16	4165289	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		4165289	86189464	122	19754										
TEKT5	146279	genome.wustl.edu	37	chr16	10788238	10788238	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cgtctccaagttctggttctCagtcagaagcctgtccagct	9	13	4	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:10788238C>G	ENST00000283025.2	-	1	564	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	165						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E165Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTCTGGTTCTCAGTCAGAAGC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											127	137	133					16																	10788238		2197	4300	6497	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.493G>C	16.37:g.10788238C>G	ENSP00000283025:p.Glu165Gln		A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E165Q	ENST00000283025.2	37	c.493	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218312	0.58560	.	.	ENSG00000153060	ENST00000283025	T	0.07327	3.2	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	T	0.37461	0.1004	M	0.89534	3.04	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.36601	-0.9741	10	0.62326	D	0.03	-42.6681	18.2401	0.89965	0.0:1.0:0.0:0.0	.	165	Q96M29	TEKT5_HUMAN	Q	165	ENSP00000283025:E165Q	ENSP00000283025:E165Q	E	-	1	0	TEKT5	10695739	1.000000	0.71417	0.659000	0.29680	0.012000	0.07955	7.295000	0.78780	2.640000	0.89533	0.650000	0.86243	GAG	TEKT5	-	pfam_Tektin		0.607	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	C	NM_144674		10788238	-1	no_errors	ENST00000283025	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10788238	C	G	10788238	3	3	127	1	0	0	0	0	1	0	0	0	15786	835	29	1	992	1	TEKT5	16	10788238	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	6622949	10788238	79566515	123	19755										
LCMT1	51451	genome.wustl.edu	37	chr16	25123262	25123262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gctgttccacctcgagctgcGacgcagacgacgagggcgtg	15	13	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:25123262G>T	ENST00000399069.3	+	1	213	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	LCMT1_ENST00000380966.4_Missense_Mutation_p.D20Y|RP11-449H11.1_ENST00000563962.1_lincRNA	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	20					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CTCGAGCTGCGACGCAGACGA	0.677																																					Colon(200;565 2072 24396 47922 50898)												0													30	33	32					16																	25123262		1995	4156	6151	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.58G>T	16.37:g.25123262G>T	ENSP00000382021:p.Asp20Tyr		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.D20Y	ENST00000399069.3	37	c.58	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698787	0.48307	.	.	ENSG00000205629	ENST00000399069;ENST00000380966	T;T	0.45668	1.9;0.89	4.02	1.95	0.26073	.	13.069700	0.00718	N	0.000879	T	0.58652	0.2137	L	0.61218	1.895	0.18873	N	0.999987	D;D	0.76494	0.995;0.999	D;P	0.63113	0.911;0.894	T	0.14671	-1.0464	10	0.66056	D	0.02	.	4.5712	0.12210	0.1167:0.0:0.6655:0.2177	.	20;20	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	Y	20	ENSP00000382021:D20Y;ENSP00000370353:D20Y	ENSP00000370353:D20Y	D	+	1	0	LCMT1	25030763	0.835000	0.29415	0.004000	0.12327	0.204000	0.24138	2.378000	0.44309	0.407000	0.25591	0.563000	0.77884	GAC	LCMT1	-	pirsf_Leu_CO_MeTrfase_LCTM1		0.677	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25123262	1	no_errors	ENST00000399069	ensembl	human	known	70_37	missense	SNP	0.010	T	T	25123262	G	T	25123262	3	4	127	1	0	0	0	0	1	0	0	0	8698	1058	37	3	60	3	LCMT1	16	25123262	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	14335024	25123262	65231491	124	19756										
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25255471	25255471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tccggaggaagccgcactctCgaagctgttcagctacagcc	11	14	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:25255471C>T	ENST00000328086.7	-	6	2419	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	539					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R539Q(1)|p.R539L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCCGCACTCTCGAAGCTGTTC	0.498																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											72	72	72					16																	25255471		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1616G>A	16.37:g.25255471C>T	ENSP00000331626:p.Arg539Gln		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R539Q	ENST00000328086.7	37	c.1616	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954920	0.34471	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.42513	0.97	5.48	2.44	0.29823	SANT domain, DNA binding (1);	0.267552	0.27210	N	0.020407	T	0.28599	0.0708	L	0.36672	1.1	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.14578	0.011;0.011	T	0.14559	-1.0468	10	0.25106	T	0.35	-5.269	8.554	0.33469	0.0:0.7446:0.0:0.2554	.	335;539	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	Q	539	ENSP00000331626:R539Q	ENSP00000331626:R539Q	R	-	2	0	ZKSCAN2	25162972	0.060000	0.20803	0.231000	0.23993	0.967000	0.64934	0.906000	0.28517	0.811000	0.34303	-0.122000	0.15005	CGA	ZKSCAN2	-	NULL		0.498	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25255471	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.111	T	T	25255471	C	T	25255471	3	4	127	1	0	0	0	0	1	0	0	0	17717	884	31	1	1295	1	ZKSCAN2	16	25255471	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	132209	25255471	65099282	125	19757										
TXNL4B	54957	genome.wustl.edu	37	chr16	72122968	72122968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gtcaaaatactgtgtataaaCtgcagtttggtccacatcta	7	8	2	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:72122968C>G	ENST00000268483.3	-	3	523	c.202G>C	c.(202-204)Gtt>Ctt	p.V68L	RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000423037.1_Missense_Mutation_p.V68L|TXNL4B_ENST00000426362.2_Missense_Mutation_p.V68L	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	68					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)		p.V68L(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TGTGTATAAACTGCAGTTTGG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											139	130	133					16																	72122968		2198	4300	6498	SO:0001583	missense	54957			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.202G>C	16.37:g.72122968C>G	ENSP00000268483:p.Val68Leu		D3DWS6	Missense_Mutation	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.V68L	ENST00000268483.3	37	c.202	CCDS10906.1	16	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122531	0.37436	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	4.66	2.7	0.31948	Thioredoxin-like fold (2);	0.124699	0.53938	D	0.000043	T	0.52597	0.1744	L	0.52011	1.625	0.52501	D	0.999959	B	0.11235	0.004	B	0.10450	0.005	T	0.54248	-0.8322	9	0.51188	T	0.08	.	8.94	0.35725	0.0:0.8127:0.0:0.1873	.	68	Q9NX01	TXN4B_HUMAN	L	68	.	ENSP00000268483:V68L	V	-	1	0	TXNL4B	70680469	0.999000	0.42202	0.547000	0.28179	0.856000	0.48823	3.772000	0.55325	1.322000	0.45245	0.561000	0.74099	GTT	TXNL4B	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5		0.383	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4B	HGNC	protein_coding	OTTHUMT00000269007.2	C	NM_017853		72122968	-1	no_errors	ENST00000268483	ensembl	human	known	70_37	missense	SNP	0.824	G	G	72122968	C	G	72122968	3	3	127	1	0	0	0	0	1	0	0	0	16837	565	20	4	255	4	TXNL4B	16	72122968	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	46867497	72122968	18231785	126	19758										
GLG1	2734	genome.wustl.edu	37	chr16	74516967	74516967	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cagctctaagagacggtgttCacagtcttctaccatcttct	7	12	6	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:74516967C>G	ENST00000422840.2	-	10	1626	c.1627G>C	c.(1627-1629)Gaa>Caa	p.E543Q	GLG1_ENST00000447066.2_Missense_Mutation_p.E532Q|GLG1_ENST00000205061.5_Missense_Mutation_p.E543Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	543					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E543Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGACGGTGTTCACAGTCTTCT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											140	133	135					16																	74516967		2198	4300	6498	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1627G>C	16.37:g.74516967C>G	ENSP00000405984:p.Glu543Gln		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.E543Q	ENST00000422840.2	37	c.1627	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.072335	0.93950	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.62723	1.935	0.80722	D	1	P;D;D	0.67145	0.767;0.996;0.979	B;D;D	0.66602	0.406;0.945;0.909	T	0.73151	-0.4073	9	0.38643	T	0.18	-6.9227	20.5666	0.99351	0.0:1.0:0.0:0.0	.	543;543;532	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	Q	543;532;543	.	ENSP00000205061:E543Q	E	-	1	0	GLG1	73074468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.731000	0.84895	2.854000	0.98071	0.655000	0.94253	GAA	GLG1	-	pfam_Cys-rich_GLG1_repeat		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201		74516967	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74516967	C	G	74516967	3	3	127	1	0	0	0	0	1	0	0	0	6455	835	29	1	2060	1	GLG1	16	74516967	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	2393999	74516967	15837786	127	19759										
GLG1	2734	genome.wustl.edu	37	chr16	74517022	74517022	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tccatcaggcacgacaagatCctagccattaaatgtgtaaa	7	10	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:74517022C>T	ENST00000422840.2	-	10	1571	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	GLG1_ENST00000447066.2_Splice_Site_p.M513I|GLG1_ENST00000205061.5_Splice_Site_p.M524I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	524					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.M524I(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGACAAGATCCTAGCCATTA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											91	91	91					16																	74517022		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1572-1G>A	16.37:g.74517022C>T			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.M524I	ENST00000422840.2	37	c.1572	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436407	0.62955	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.78	5.78	0.91487	.	0.039798	0.85682	N	0.000000	T	0.73575	0.3604	L	0.47716	1.5	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.963	D;P;P	0.63033	0.91;0.717;0.67	T	0.71586	-0.4548	9	0.45353	T	0.12	.	20.0079	0.97439	0.0:1.0:0.0:0.0	.	524;524;513	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	I	524;513;524	.	ENSP00000205061:M524I	M	-	3	0	GLG1	73074523	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.731000	0.84895	2.722000	0.93159	0.655000	0.94253	ATG	GLG1	-	pfam_Cys-rich_GLG1_repeat		0.403	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201	Missense_Mutation	74517022	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74517022	C	T	74517022	5	4	127	1	0	0	0	0	0	0	1	0	6455	869	30	1	2115	1	GLG1	16	74517022	Splice_Site	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	55	74517022	15837731	128	19760										
CDH13	1012	genome.wustl.edu	37	chr16	83636197	83636197	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	caccaaaattcaccaagaaaGaggtaaacccctgtgccaaa	6	12	1	2	rs200000145	byFrequency	TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr16:83636197G>C	ENST00000566620.1	+	8	1389	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CDH13_ENST00000428848.3_Missense_Mutation_p.E328Q|CDH13_ENST00000268613.10_Missense_Mutation_p.E414Q	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	367	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> Q (in a patient with amyotrophic lateral sclerosis). {ECO:0000269|PubMed:21220648}.		adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.E367Q(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACCAAGAAAGAGGTAAACCC	0.473													G|||	4	0.000798722	0	0.0043	5008	,	,		18912	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	cervix(1)						G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,3914		0,0,1957	129	128	128		1240,982,337,1099	6	1	16		128	13,8323		0,13,4155	yes	missense,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	29,29,29,29	0,13,6112	CC,CG,GG		0.156,0.0,0.1061	probably-damaging,probably-damaging,probably-damaging,probably-damaging	414/761,328/675,113/460,367/714	83636197	13,12237	1957	4168	6125	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1099G>C	16.37:g.83636197G>C	ENSP00000454435:p.Glu367Gln		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E367Q	ENST00000566620.1	37	c.1099	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411196	0.62399	0.0	0.00156	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.61040	0.14	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.54481	0.1861	L	0.45581	1.43	0.80722	D	1	B;B;B	0.30824	0.034;0.146;0.296	B;B;B	0.29942	0.053;0.085;0.109	T	0.49744	-0.8907	9	0.39692	T	0.17	.	19.1188	0.93353	0.0:0.0:1.0:0.0	.	328;414;367	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	Q	414;367;328;69;57	ENSP00000268613:E414Q	ENSP00000268613:E414Q	E	+	1	0	CDH13	82193698	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.779000	0.62375	2.865000	0.98341	0.655000	0.94253	GAG	CDH13	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.473	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	G	NM_001257		83636197	1	no_errors	ENST00000566620	ensembl	human	known	70_37	missense	SNP	1.000	C	C	83636197	G	C	83636197	3	2	127	1	0	0	0	0	1	0	0	0	3104	943	33	1	1129	1	CDH13	16	83636197	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	9119175	83636197	6718556	129	19761										
ZNF594	84622	genome.wustl.edu	37	chr17	5086862	5086862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttccccctactgtggattctCtggtgcaggacaaggtttga	11	10	1	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:5086862C>G	ENST00000399604.4	-	1	830	c.690G>C	c.(688-690)caG>caC	p.Q230H	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q230H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	230					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.Q230H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTGGATTCTCTGGTGCAGGA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											104	107	106					17																	5086862		2051	4221	6272	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.690G>C	17.37:g.5086862C>G	ENSP00000382513:p.Gln230His		Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q230H	ENST00000399604.4	37	c.690	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046880	0.07407	.	.	ENSG00000180626	ENST00000399604	T	0.18502	2.21	2.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	L	0.48986	1.54	0.20638	N	0.99988	D	0.57899	0.981	P	0.53035	0.716	T	0.08186	-1.0734	9	0.52906	T	0.07	.	6.6334	0.22869	0.0:0.8341:0.0:0.1659	.	230	Q96JF6	ZN594_HUMAN	H	230	ENSP00000382513:Q230H	ENSP00000382513:Q230H	Q	-	3	2	ZNF594	5027586	0.000000	0.05858	0.612000	0.29024	0.229000	0.25112	-0.361000	0.07612	1.314000	0.45095	0.462000	0.41574	CAG	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5086862	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	missense	SNP	0.996	G	G	5086862	C	G	5086862	3	3	127	1	0	0	0	0	1	0	0	0	18054	912	32	1	1737	1	ZNF594	17	5086862	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		5086862	76108348	130	19762										
NTN1	9423	genome.wustl.edu	37	chr17	8926373	8926373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cacgctggacgggcggccctCggcgcacgacttcgacaact	13	16	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:8926373C>T	ENST00000173229.2	+	2	790	c.683C>T	c.(682-684)tCg>tTg	p.S228L	NTN1_ENST00000546090.1_Missense_Mutation_p.S228L|NTN1_ENST00000538852.1_Missense_Mutation_p.S228L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	228	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S228L(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGGCGGCCCTCGGCGCACGAC	0.687																																																	1	Substitution - Missense(1)	cervix(1)											11	12	12					17																	8926373		2175	4278	6453	SO:0001583	missense	9423			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.683C>T	17.37:g.8926373C>T	ENSP00000173229:p.Ser228Leu		E9KL51	Missense_Mutation	SNP	pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.S228L	ENST00000173229.2	37	c.683	CCDS11148.1	17	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020543	0.93462	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.79141	-1.24;-1.24;-1.24	5.01	5.01	0.66863	Laminin, N-terminal (3);	0.062569	0.64402	D	0.000003	D	0.90950	0.7155	M	0.93720	3.45	0.58432	D	0.999993	D	0.76494	0.999	D	0.71870	0.975	D	0.93158	0.6555	10	0.62326	D	0.03	.	17.9289	0.88991	0.0:1.0:0.0:0.0	.	228	O95631	NET1_HUMAN	L	228	ENSP00000173229:S228L;ENSP00000443259:S228L;ENSP00000441611:S228L	ENSP00000173229:S228L	S	+	2	0	NTN1	8867098	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.023000	0.70848	2.320000	0.78422	0.650000	0.86243	TCG	NTN1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.687	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN1	HGNC	protein_coding	OTTHUMT00000252583.1	C			8926373	1	no_errors	ENST00000173229	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8926373	C	T	8926373	3	4	127	1	0	0	0	0	1	0	0	0	10724	893	31	1	685	1	NTN1	17	8926373	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	3839511	8926373	72268837	131	19763										
ATAD5	79915	genome.wustl.edu	37	chr17	29171008	29171008	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	cagaagaaacttcagtgtttGaatgatgtgctaggaaaaaa	10	4	1	4			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:29171008G>C	ENST00000321990.4	+	5	2697	c.2319G>C	c.(2317-2319)ttG>ttC	p.L773F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	773					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L773F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTCAGTGTTTGAATGATGTGC	0.289																																																	1	Substitution - Missense(1)	cervix(1)											64	71	69					17																	29171008		2200	4290	6490	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2319G>C	17.37:g.29171008G>C	ENSP00000313171:p.Leu773Phe		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L773F	ENST00000321990.4	37	c.2319	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	9.973	1.226099	0.22542	.	.	ENSG00000176208	ENST00000321990	D	0.90197	-2.63	5.67	1.26	0.21427	.	0.421812	0.24091	N	0.041636	D	0.92734	0.7690	M	0.66939	2.045	0.39359	D	0.965886	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89161	0.3530	10	0.30078	T	0.28	.	8.8071	0.34945	0.4077:0.0:0.5923:0.0	.	773;773	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	F	773	ENSP00000313171:L773F	ENSP00000313171:L773F	L	+	3	2	ATAD5	26195134	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	1.295000	0.33377	0.023000	0.15187	-0.490000	0.04691	TTG	ATAD5	-	NULL		0.289	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29171008	1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29171008	G	C	29171008	3	2	127	1	0	0	0	0	1	0	0	0	1077	1281	45	1	2337	1	ATAD5	17	29171008	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	20244635	29171008	52024202	132	19764										
ACACA	31	genome.wustl.edu	37	chr17	35486321	35486321	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	acggcctgctagcatccatcGaggatcgtatggggtctttg	13	10	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:35486321G>T	ENST00000394406.2	-	47	5993	c.5803C>A	c.(5803-5805)Cga>Aga	p.R1935R	ACACA_ENST00000353139.5_Silent_p.R1972R|ACACA_ENST00000335166.5_Silent_p.R1857R|ACACA_ENST00000360679.3_Silent_p.R1877R|ACACA_ENST00000361253.5_Silent_p.R61R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1935	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGCATCCATCGAGGATCGTAT	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													142	115	124					17																	35486321		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5803C>A	17.37:g.35486321G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R1972	ENST00000394406.2	37	c.5914	CCDS11317.1	17																																																																																			ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35486321	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	silent	SNP	0.997	T	T	35486321	G	T	35486321	2	4	127	1	0	0	0	0	0	0	0	1	106	1066	37	3		3	ACACA	17	35486321	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	6315313	35486321	45708889	133	19765										
KRTAP1-3	81850	genome.wustl.edu	37	chr17	39190875	39190875	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tggctggcagcagctggtctCacagcagcttggctggcagc	15	12	1	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:39190875C>G	ENST00000344363.5	-	1	232	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	77			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.E67Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											30	35	33					17																	39190875		1980	4162	6142	SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.199G>C	17.37:g.39190875C>G	ENSP00000344420:p.Glu67Gln		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.E67Q	ENST00000344363.5	37	c.199	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	0.314	-0.966212	0.02232	.	.	ENSG00000221880	ENST00000344363	T	0.27890	1.64	3.48	-5.07	0.02938	.	.	.	.	.	T	0.12008	0.0292	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39981	-0.9587	8	0.09338	T	0.73	.	8.6903	0.34262	0.0:0.5354:0.201:0.2637	.	77	Q8IUG1	KRA13_HUMAN	Q	67	ENSP00000344420:E67Q	ENSP00000344420:E67Q	E	-	1	0	KRTAP1-3	36444401	0.750000	0.28316	0.000000	0.03702	0.179000	0.23085	-0.001000	0.12947	-0.956000	0.03631	-0.436000	0.05848	GAG	KRTAP1-3	-	pfam_Keratin-assoc		0.617	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	C			39190875	-1	no_errors	ENST00000344363	ensembl	human	known	70_37	missense	SNP	0.000	G	G	39190875	C	G	39190875	3	3	127	1	0	0	0	0	1	0	0	0	8523	835	29	1	308	1	KRTAP1-3	17	39190875	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	3704554	39190875	42004335	134	19766										
BPTF	2186	genome.wustl.edu	37	chr17	65941593	65941593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	atcaagacaaaaccctgccaCcagctcagtcatcaagtgtg	7	13	4	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:65941593C>T	ENST00000321892.4	+	23	7208	c.7147C>T	c.(7147-7149)Cca>Tca	p.P2383S	BPTF_ENST00000335221.5_Missense_Mutation_p.P2383S|BPTF_ENST00000424123.3_Missense_Mutation_p.P2244S|BPTF_ENST00000306378.6_Missense_Mutation_p.P2257S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2383					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P2257S(1)|p.P2383S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCCTGCCACCAGCTCAGTC	0.527																																																	2	Substitution - Missense(2)	cervix(2)											76	69	71					17																	65941593		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7147C>T	17.37:g.65941593C>T	ENSP00000315454:p.Pro2383Ser		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P2383S	ENST00000321892.4	37	c.7147		17	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740163	0.03088	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.68181	-0.31;-0.24;-0.25	5.49	-0.203	0.13204	.	.	.	.	.	T	0.53270	0.1786	L	0.50333	1.59	0.33261	D	0.55972	B;B;B	0.24426	0.002;0.028;0.103	B;B;B	0.23419	0.002;0.02;0.046	T	0.52495	-0.8568	9	0.09843	T	0.71	-0.6122	9.3474	0.38118	0.0:0.4099:0.4613:0.1288	.	61;2257;2383	B4DJV8;Q12830-2;Q12830-4	.;.;.	S	2257;2383;2383	ENSP00000307208:P2257S;ENSP00000334351:P2383S;ENSP00000315454:P2383S	ENSP00000307208:P2257S	P	+	1	0	BPTF	63372055	0.057000	0.20700	0.980000	0.43619	0.013000	0.08279	0.317000	0.19487	0.019000	0.15079	-0.825000	0.03093	CCA	BPTF	-	NULL		0.527	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65941593	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.998	T	T	65941593	C	T	65941593	3	4	127	1	0	0	0	0	1	0	0	0	1498	507	18	4	7237	4	BPTF	17	65941593	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	26750718	65941593	15253617	135	19767										
RECQL5	9400	genome.wustl.edu	37	chr17	73654526	73654526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccatagacttggcaatattcCaatgggcgacaaacctgtag	9	10	0	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:73654526C>T	ENST00000317905.5	-	7	1160	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	RECQL5_ENST00000420326.2_Nonsense_Mutation_p.W334*|RECQL5_ENST00000340830.5_Nonsense_Mutation_p.W334*|RECQL5_ENST00000584999.1_Nonsense_Mutation_p.W334*|RECQL5_ENST00000423245.2_Nonsense_Mutation_p.W307*	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.W307*(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCAATATTCCAATGGGCGAC	0.537								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Nonsense(1)	cervix(1)											110	110	110					17																	73654526		2203	4300	6503	SO:0001587	stop_gained	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1001G>A	17.37:g.73654526C>T	ENSP00000317636:p.Trp334*		Q9H0B1|Q9P1W7|Q9UNC8	Nonsense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.W334*	ENST00000317905.5	37	c.1001	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.793088	0.96952	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6338	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000317636:W334X	W	-	2	0	RECQL5	71166121	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	TGG	RECQL5	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.537	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	C	NM_004259		73654526	-1	no_errors	ENST00000317905	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	73654526	C	T	73654526	4	4	127	1	0	0	0	0	0	1	0	0	13233	595	21	4	2117	4	RECQL5	17	73654526	Nonsense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	7712933	73654526	7540684	136	19768										
TNRC6C	57690	genome.wustl.edu	37	chr17	76045615	76045615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggggaaacttgctgccacaaGagagcacagaaccacaaacg	11	11	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr17:76045615G>A	ENST00000588061.1	+	5	1199	c.472G>A	c.(472-474)Gag>Aag	p.E158K	TNRC6C_ENST00000335749.4_Missense_Mutation_p.E158K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E158K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E158K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.E158K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E158K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	158	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E158K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTGCCACAAGAGAGCACAGA	0.478																																																	2	Substitution - Missense(2)	cervix(2)											96	98	97					17																	76045615		2046	4188	6234	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.472G>A	17.37:g.76045615G>A	ENSP00000468647:p.Glu158Lys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E158K	ENST00000588061.1	37	c.472	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967167	0.74131	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.36	5.36	0.76844	.	0.111909	0.64402	D	0.000005	T	0.39517	0.1081	L	0.58101	1.795	0.54753	D	0.999986	P;D;P	0.71674	0.873;0.998;0.799	B;D;B	0.78314	0.385;0.991;0.214	T	0.01334	-1.1382	10	0.30854	T	0.27	-14.6184	19.277	0.94036	0.0:0.0:1.0:0.0	.	158;158;158	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	158	ENSP00000336783:E158K;ENSP00000301624:E158K;ENSP00000440310:E158K;ENSP00000442421:E158K	ENSP00000301624:E158K	E	+	1	0	TNRC6C	73557210	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.175000	0.71949	2.782000	0.95742	0.655000	0.94253	GAG	TNRC6C	-	NULL		0.478	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	G	NM_018996		76045615	1	no_errors	ENST00000335749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76045615	G	A	76045615	3	1	127	1	0	0	0	0	1	0	0	0	16372	943	33	1	474	1	TNRC6C	17	76045615	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	2391089	76045615	5149595	137	19769										
GCDH	2639	genome.wustl.edu	37	chr19	13008605	13008605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	aggcccgagacatgctggggGggaatgggatttctgacgag	18	7	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:13008605G>A	ENST00000222214.5	+	11	1382	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	GCDH_ENST00000591470.1_Missense_Mutation_p.G391R|GCDH_ENST00000422947.2_Missense_Mutation_p.G347R|GCDH_ENST00000457854.1_Missense_Mutation_p.G391R			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	391					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.G391R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CATGCTGGGGGGGAATGGGAT	0.602																																					GBM(123;875 1636 7726 16444 26754)												2	Substitution - Missense(2)	cervix(2)											64	70	68					19																	13008605		2203	4300	6503	SO:0001583	missense	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1171G>A	19.37:g.13008605G>A	ENSP00000222214:p.Gly391Arg		A8K2Z2|O14719	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.G391R	ENST00000222214.5	37	c.1171	CCDS12286.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.251935	0.95336	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.98585	-5.01;-5.01;-5.01	5.6	5.6	0.85130	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99887	4.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	D	0.97464	1.0036	10	0.87932	D	0	.	17.0969	0.86637	0.0:0.0:1.0:0.0	.	347;227;391;391	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	R	391;391;347	ENSP00000394872:G391R;ENSP00000222214:G391R;ENSP00000394821:G347R	ENSP00000222214:G391R	G	+	1	0	GCDH	12869605	1.000000	0.71417	0.905000	0.35620	0.911000	0.54048	9.459000	0.97638	2.644000	0.89710	0.655000	0.94253	GGG	GCDH	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.602	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	G			13008605	1	no_errors	ENST00000222214	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13008605	G	A	13008605	3	1	127	1	0	0	0	0	1	0	0	0	6306	1232	43	4	1209	4	GCDH	19	13008605	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		13008605	46120378	138	19770										
CAPNS1	826	genome.wustl.edu	37	chr19	36640737	36640737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gctgcagctgactatgtattCctgaactggagccccagacc	10	13	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:36640737C>T	ENST00000246533.3	+	11	1401	c.803C>T	c.(802-804)tCc>tTc	p.S268F	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.S238F|CAPNS1_ENST00000588815.1_Missense_Mutation_p.S268F|CAPNS1_ENST00000589146.1_Missense_Mutation_p.S94F|CAPNS1_ENST00000588780.1_Missense_Mutation_p.S278F|CAPNS1_ENST00000587718.1_3'UTR	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	268	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.			WLQLTMYS -> VRTPILGYGCLGGPHPSALHTSSELQSPS SYFASRPWVRAKGLVLLGFPVLTLHPPLPSGCS (in Ref. 7; AAH11903). {ECO:0000305}.	extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.S268F(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTATGTATTCCTGAACTGGA	0.622																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												1	Substitution - Missense(1)	cervix(1)											94	84	87					19																	36640737		2203	4300	6503	SO:0001583	missense	826			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.803C>T	19.37:g.36640737C>T	ENSP00000246533:p.Ser268Phe		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S278F	ENST00000246533.3	37	c.833	CCDS12489.1	19	.	.	.	.	.	.	.	.	.	.	c	27.5	4.833783	0.91036	.	.	ENSG00000126247	ENST00000246533	D	0.83506	-1.73	5.04	5.04	0.67666	EF-hand-like domain (1);	0.116753	0.64402	D	0.000012	D	0.89938	0.6860	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90772	0.4673	10	0.87932	D	0	.	15.9128	0.79485	0.0:1.0:0.0:0.0	.	268	P04632	CPNS1_HUMAN	F	268	ENSP00000246533:S268F	ENSP00000246533:S268F	S	+	2	0	CAPNS1	41332577	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.238000	0.65366	2.617000	0.88574	0.655000	0.94253	TCC	CAPNS1	-	pfscan_EF_HAND_2		0.622	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2	C			36640737	1	no_errors	ENST00000588780	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36640737	C	T	36640737	3	4	127	1	0	0	0	0	1	0	0	0	2638	855	30	1	841	1	CAPNS1	19	36640737	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	23632132	36640737	22488246	139	19771										
SIGLEC10	89790	genome.wustl.edu	37	chr19	51920033	51920033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgggcgtgaagctgagcactGagaagtgggaggtcgttggt	19	5	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:51920033G>A	ENST00000339313.5	-	3	709	c.593C>T	c.(592-594)tCa>tTa	p.S198L	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S198L|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.S198L|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.S150L|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.S198L			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	198	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.S198L(1)|p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTGAGCACTGAGAAGTGGGA	0.592																																																	2	Substitution - Missense(1)|Unknown(1)	cervix(2)											136	114	121					19																	51920033		2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.593C>T	19.37:g.51920033G>A	ENSP00000345243:p.Ser198Leu		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S198L	ENST00000339313.5	37	c.593	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	21.9	4.217870	0.79352	.	.	ENSG00000142512	ENST00000353836;ENST00000356298;ENST00000525998;ENST00000436984;ENST00000339313;ENST00000530476	D;D;D;D;D;D	0.88509	-1.86;-1.86;-1.86;-2.39;-1.86;-1.86	4.69	4.69	0.59074	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144262	0.32444	N	0.006100	D	0.95137	0.8424	M	0.91663	3.23	0.21147	N	0.999779	D;D;D;D	0.89917	0.984;1.0;0.997;0.996	P;D;D;P	0.87578	0.806;0.998;0.939;0.905	D	0.89341	0.3654	10	0.59425	D	0.04	.	13.0865	0.59144	0.0:0.0:1.0:0.0	.	150;198;198;198	C9JM10;E9PL79;Q96LC7-2;Q96LC7	.;.;.;SIG10_HUMAN	L	198;198;198;150;198;165	ENSP00000342389:S198L;ENSP00000348646:S198L;ENSP00000431444:S198L;ENSP00000414324:S150L;ENSP00000345243:S198L;ENSP00000433838:S165L	ENSP00000345243:S198L	S	-	2	0	SIGLEC10	56611845	0.988000	0.35896	0.045000	0.18777	0.179000	0.23085	3.135000	0.50546	2.152000	0.67230	0.313000	0.20887	TCA	SIGLEC10	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.592	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	G	NM_033130		51920033	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.168	A	A	51920033	G	A	51920033	3	1	127	1	0	0	0	0	1	0	0	0	14336	1294	45	1	1536	1	SIGLEC10	19	51920033	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	15279296	51920033	7208950	140	19772										
SIGLEC14	100049587	genome.wustl.edu	37	chr19	52149138	52149138	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcctcgggcctgggggtgagGgtgagctccgaggagcgggt	21	9	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:52149138G>T	ENST00000360844.6	-	3	638	c.597C>A	c.(595-597)acC>acA	p.T199T	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	199	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T199T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGGGGTGAGGGTGAGCTCCG	0.627																																																	2	Substitution - coding silent(2)	cervix(2)											26	27	27					19																	52149138		2054	4174	6228	SO:0001819	synonymous_variant	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.597C>A	19.37:g.52149138G>T			Q6UXG0	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T199	ENST00000360844.6	37	c.597	CCDS42604.1	19																																																																																			SIGLEC14	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.627	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	G	NM_001098612		52149138	-1	no_errors	ENST00000360844	ensembl	human	known	70_37	silent	SNP	0.011	T	T	52149138	G	T	52149138	2	4	127	1	0	0	0	0	0	0	0	1	14339	1219	43	4		4	SIGLEC14	19	52149138	Silent	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	229105	52149138	6979845	141	19773										
PPP2R1A	5518	genome.wustl.edu	37	chr19	52723005	52723005	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgtgaacgaggtgattggcaTccggcagctgtcccagtccc	13	12	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:52723005T>A	ENST00000322088.6	+	10	1248	c.1190T>A	c.(1189-1191)aTc>aAc	p.I397N	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.I218N|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.I342N|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	397	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.I397N(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GTGATTGGCATCCGGCAGCTG	0.577			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	1	Substitution - Missense(1)	cervix(1)											94	83	87					19																	52723005		2203	4300	6503	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1190T>A	19.37:g.52723005T>A	ENSP00000324804:p.Ile397Asn		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.I397N	ENST00000322088.6	37	c.1190	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388781	0.61956	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.33438	1.41;1.41	4.68	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.41971	0.1182	M	0.92077	3.27	0.58432	D	0.999998	P;B	0.35628	0.513;0.117	B;B	0.35039	0.194;0.01	T	0.48779	-0.9005	10	0.87932	D	0	-16.9618	9.0114	0.36144	0.1652:0.0:0.0:0.8348	.	342;397	F5H3X9;P30153	.;2AAA_HUMAN	N	387;317;397;342	ENSP00000324804:I397N;ENSP00000415067:I342N	ENSP00000324804:I397N	I	+	2	0	PPP2R1A	57414817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	0.898000	0.36418	0.533000	0.62120	ATC	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	T	NM_014225		52723005	1	no_errors	ENST00000322088	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52723005	T	A	52723005	3	1	127	1	0	0	0	0	1	0	0	0	12409	1435	50	5	1228	5	PPP2R1A	19	52723005	Missense_Mutation	SNP	T	TCGA-FU-A23L-01A-11D-A16O-08	573867	52723005	6405978	142	19774										
ZNF160	90338	genome.wustl.edu	37	chr19	53589517	53589517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ccaggagtatcactttacctGagtaagggccatccctgact	9	12	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:53589517G>C	ENST00000429604.1	-	4	428	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5E|ZNF160_ENST00000599729.1_5'Flank|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5E|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5E	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	5					hemopoiesis (GO:0030097)|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.Q5K(2)|p.Q5E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACTTTACCTGAGTAAGGGCC	0.428																																																	3	Substitution - Missense(3)	lung(2)|cervix(1)											159	129	139					19																	53589517		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.13C>G	19.37:g.53589517G>C	ENSP00000406201:p.Gln5Glu		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q5E	ENST00000429604.1	37	c.13	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272944	0.40194	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.00940	5.52;5.52;5.52	2.32	2.32	0.28847	Krueppel-associated box (1);	.	.	.	.	T	0.03434	0.0099	M	0.79805	2.47	0.09310	N	0.999998	P;B	0.51449	0.945;0.055	P;B	0.55455	0.776;0.023	T	0.28554	-1.0040	9	0.54805	T	0.06	.	8.2325	0.31605	0.0:0.0:1.0:0.0	.	5;5	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	E	5	ENSP00000406201:Q5E;ENSP00000409597:Q5E;ENSP00000347273:Q5E	ENSP00000347273:Q5E	Q	-	1	0	ZNF160	58281329	0.466000	0.25823	0.546000	0.28166	0.034000	0.12701	0.777000	0.26718	1.616000	0.50265	0.655000	0.94253	CAG	ZNF160	-	superfamily_Krueppel-associated_box		0.428	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	G	NM_033288		53589517	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.602	C	C	53589517	G	C	53589517	3	2	127	1	0	0	0	0	1	0	0	0	17769	1299	45	1	2459	1	ZNF160	19	53589517	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	866512	53589517	5539466	143	19775										
BIRC8	112401	genome.wustl.edu	37	chr19	53793351	53793351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tggtgttttcttggtagtttGtaccagagctccctcaagtg	11	8	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr19:53793351G>T	ENST00000426466.1	-	1	1524	c.277C>A	c.(277-279)Caa>Aaa	p.Q93K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	93					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.Q93K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTGGTAGTTTGTACCAGAGCT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											209	200	203					19																	53793351		2203	4300	6503	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.277C>A	19.37:g.53793351G>T	ENSP00000412957:p.Gln93Lys		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.Q93K	ENST00000426466.1	37	c.277	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.061154	0.00037	.	.	ENSG00000163098	ENST00000426466	T	0.35236	1.32	0.502	-1.0	0.10196	.	.	.	.	.	T	0.09113	0.0225	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	8	0.06365	T	0.9	-8.1366	.	.	.	.	93	Q96P09	BIRC8_HUMAN	K	93	ENSP00000412957:Q93K	ENSP00000412957:Q93K	Q	-	1	0	BIRC8	58485163	0.067000	0.21026	0.002000	0.10522	0.027000	0.11550	-1.475000	0.02335	-1.994000	0.00972	-1.109000	0.02080	CAA	BIRC8	-	NULL		0.373	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	G	NM_033341		53793351	-1	no_errors	ENST00000426466	ensembl	human	known	70_37	missense	SNP	0.002	T	T	53793351	G	T	53793351	3	4	127	1	0	0	0	0	1	0	0	0	1441	1386	48	4	437	4	BIRC8	19	53793351	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	203834	53793351	5335632	144	19776										
TMC2	117532	genome.wustl.edu	37	chr20	2597805	2597805	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttccagtgctgggcggtgatGagcagcaacgtaccccatga	13	11	0	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:2597805G>A	ENST00000358864.1	+	16	2043	c.2028G>A	c.(2026-2028)atG>atA	p.M676I	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	676					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGGCGGTGATGAGCAGCAACG	0.587																																																	0													186	133	151					20																	2597805		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2028G>A	20.37:g.2597805G>A	ENSP00000351732:p.Met676Ile		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.M676I	ENST00000358864.1	37	c.2028	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537304	0.85812	.	.	ENSG00000149488	ENST00000358864	T	0.63096	-0.02	5.35	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.46157	1.445	0.49130	D	0.999753	D	0.76494	0.999	D	0.87578	0.998	T	0.71823	-0.4476	10	0.40728	T	0.16	-17.4459	14.1769	0.65546	0.0:0.1511:0.8489:0.0	.	676	Q8TDI7	TMC2_HUMAN	I	676	ENSP00000351732:M676I	ENSP00000351732:M676I	M	+	3	0	TMC2	2545805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.367000	0.46095	0.650000	0.86243	ATG	TMC2	-	pfam_TMC		0.587	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2597805	1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2597805	G	A	2597805	3	1	127	1	0	0	0	0	1	0	0	0	16015	1290	45	1	2090	1	TMC2	20	2597805	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		2597805	60427715	145	19777										
MYH7B	57644	genome.wustl.edu	37	chr20	33575936	33575936	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tgcatcaacttcaccaatgaGaaattgcagcagttcttcaa	6	10	4	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:33575936G>C	ENST00000262873.7	+	17	1676	c.1584G>C	c.(1582-1584)gaG>gaC	p.E528D	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	486	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E528D(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCACCAATGAGAAATTGCAGC	0.557																																																	1	Substitution - Missense(1)	cervix(1)											87	88	88					20																	33575936		2203	4300	6503	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1584G>C	20.37:g.33575936G>C	ENSP00000262873:p.Glu528Asp		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E528D	ENST00000262873.7	37	c.1584	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723802	0.68959	.	.	ENSG00000078814	ENST00000262873	D	0.81739	-1.53	3.8	3.8	0.43715	Myosin head, motor domain (3);	0.000000	0.34268	N	0.004105	D	0.92756	0.7697	H	0.99507	4.6	0.47123	D	0.999326	D	0.56035	0.974	P	0.59546	0.859	D	0.94425	0.7644	10	0.87932	D	0	.	11.6086	0.51047	0.089:0.0:0.911:0.0	.	486	A7E2Y1	MYH7B_HUMAN	D	528	ENSP00000262873:E528D	ENSP00000262873:E528D	E	+	3	2	MYH7B	33039597	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.083000	0.50136	2.415000	0.81967	0.561000	0.74099	GAG	MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.557	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	G	NM_020884		33575936	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	33575936	G	C	33575936	3	2	127	1	0	0	0	0	1	0	0	0	10063	933	33	1	1650	1	MYH7B	20	33575936	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	30978131	33575936	29449584	146	19778										
C20orf107	388799	genome.wustl.edu	37	chr20	55111233	55111233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tatctttcttgacaggagcaGagtcctcctggccttcgagg	11	11	2	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr20:55111233G>C	ENST00000371325.1	+	2	351	c.255G>C	c.(253-255)caG>caC	p.Q85H		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	85						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.Q85H(1)									GACAGGAGCAGAGTCCTCCTG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											86	87	87					20																	55111233		2203	4300	6503	SO:0001583	missense	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.255G>C	20.37:g.55111233G>C	ENSP00000360376:p.Gln85His		Q3KRB5	Missense_Mutation	SNP	NULL	p.Q85H	ENST00000371325.1	37	c.255	CCDS33494.1	20	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151606	0.38021	.	.	ENSG00000213714	ENST00000371325	T	0.12361	2.69	3.27	2.3	0.28687	.	0.980746	0.08266	U	0.972188	T	0.24851	0.0603	L	0.61218	1.895	0.19300	N	0.999973	D	0.60160	0.987	P	0.55391	0.775	T	0.15867	-1.0422	10	0.62326	D	0.03	-10.6694	5.6386	0.17550	0.1504:0.0:0.8496:0.0	.	85	Q5JX69	CT107_HUMAN	H	85	ENSP00000360376:Q85H	ENSP00000360376:Q85H	Q	+	3	2	C20orf107	54544640	0.684000	0.27642	0.478000	0.27316	0.769000	0.43574	0.546000	0.23284	1.829000	0.53265	0.491000	0.48974	CAG	FAM209B	-	NULL		0.398	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209B	HGNC	protein_coding	OTTHUMT00000079816.1	G			55111233	1	no_errors	ENST00000371325	ensembl	human	known	70_37	missense	SNP	0.259	C	C	55111233	G	C	55111233	3	2	127	1	0	0	0	0	1	0	0	0	2082	933	33	1	261	1	C20orf107	20	55111233	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	21535297	55111233	7914287	147	19779										
SON	6651	genome.wustl.edu	37	chr21	34924700	34924700	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ctatgatgtcccctatggctGagcgctctatgatgtcagct	10	11	2	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr21:34924700G>A	ENST00000356577.4	+	3	3638	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	SON_ENST00000290239.6_Missense_Mutation_p.E1055K|SON_ENST00000381679.4_Missense_Mutation_p.E1055K|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E1055K	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1055	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E1055K(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCCTATGGCTGAGCGCTCTAT	0.517																																																	2	Substitution - Missense(2)	cervix(2)											111	104	106					21																	34924700		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3163G>A	21.37:g.34924700G>A	ENSP00000348984:p.Glu1055Lys		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.E1055K	ENST00000356577.4	37	c.3163	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447624	0.63178	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000046	T	0.53158	0.1779	L	0.56769	1.78	0.37061	D	0.898062	D;D;P;D;D	0.76494	0.999;0.999;0.884;0.999;0.999	D;D;P;D;D	0.83275	0.996;0.991;0.636;0.996;0.996	T	0.49093	-0.8975	10	0.34782	T	0.22	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	1055;1055;736;1055;1055	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	K	1055	ENSP00000348984:E1055K;ENSP00000290239:E1055K;ENSP00000300278:E1055K;ENSP00000371095:E1055K	ENSP00000290239:E1055K	E	+	1	0	SON	33846570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.735000	0.47377	2.882000	0.98803	0.655000	0.94253	GAG	SON	-	NULL		0.517	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	G	NM_138927		34924700	1	no_errors	ENST00000356577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34924700	G	A	34924700	3	1	127	1	0	0	0	0	1	0	0	0	14956	1291	45	1	3173	1	SON	21	34924700	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		34924700	13205195	148	19780										
PWP2	5822	genome.wustl.edu	37	chr21	45548023	45548023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggccctggaggcggtgcccaGgggcgagagtgagttggggc	22	9	0	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr21:45548023G>A	ENST00000291576.7	+	18	2478	c.2351G>A	c.(2350-2352)aGg>aAg	p.R784K	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	784					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.R784K(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCGGTGCCCAGGGGCGAGAGT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											30	29	29					21																	45548023		2200	4300	6500	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2351G>A	21.37:g.45548023G>A	ENSP00000291576:p.Arg784Lys		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R784K	ENST00000291576.7	37	c.2351	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698380	0.30142	.	.	ENSG00000241945	ENST00000291576	T	0.57907	0.37	3.92	-2.27	0.06846	.	1.114660	0.06456	N	0.728613	T	0.38161	0.1030	L	0.38175	1.15	0.09310	N	1	B	0.10296	0.003	B	0.19148	0.024	T	0.21999	-1.0229	10	0.30078	T	0.28	-14.0368	5.0668	0.14585	0.3441:0.2584:0.3975:0.0	.	784	Q15269	PWP2_HUMAN	K	784	ENSP00000291576:R784K	ENSP00000291576:R784K	R	+	2	0	PWP2	44372451	0.001000	0.12720	0.000000	0.03702	0.235000	0.25334	1.147000	0.31602	-0.633000	0.05545	0.563000	0.77884	AGG	PWP2	-	pfam_SSU_processome_Utp12		0.617	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	G	NM_005049		45548023	1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	0.000	A	A	45548023	G	A	45548023	3	1	127	1	0	0	0	0	1	0	0	0	12874	1000	35	4	2421	4	PWP2	21	45548023	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	10623323	45548023	2581872	149	19781										
CLTCL1	8218	genome.wustl.edu	37	chr22	19183791	19183791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcttaccttggtaatgatgtCcttgaactgaccctccttcc	6	13	1	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:19183791C>A	ENST00000263200.10	-	26	4249	c.4177G>T	c.(4177-4179)Gac>Tac	p.D1393Y	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.D1393Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D1393Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1393	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.D1393Y(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAATGATGTCCTTGAACTGA	0.562			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	cervix(1)											93	91	92					22																	19183791		2033	4208	6241	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4177G>T	22.37:g.19183791C>A	ENSP00000445677:p.Asp1393Tyr		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D1393Y	ENST00000263200.10	37	c.4177	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979445	0.53827	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22336	1.96;1.96;1.96	3.57	3.57	0.40892	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.994;0.994	T	0.67237	-0.5721	10	0.87932	D	0	-20.257	15.336	0.74255	0.0:1.0:0.0:0.0	.	1393;216;216;1393	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	Y	1393	ENSP00000439662:D1393Y;ENSP00000445677:D1393Y;ENSP00000441158:D1393Y	ENSP00000445677:D1393Y	D	-	1	0	CLTCL1	17563791	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	6.944000	0.75940	1.829000	0.53265	0.491000	0.48974	GAC	CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.562	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19183791	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19183791	C	A	19183791	3	1	127	1	0	0	0	0	1	0	0	0	3572	855	30	3	773	3	CLTCL1	22	19183791	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08		19183791	32120775	150	19782										
H1F0	3005	genome.wustl.edu	37	chr22	38201771	38201771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agatcaagttgtccatcaagCgcctggtcaccaccggtgtc	10	13	3	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:38201771C>T	ENST00000340857.2	+	1	658	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	74	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R74C(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					GTCCATCAAGCGCCTGGTCAC	0.592																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)												1	Substitution - Missense(1)	cervix(1)											86	95	92					22																	38201771		2203	4300	6503	SO:0001583	missense	3005			X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"Histones / Replication-independent"	4714	protein-coding gene	gene with protein product	"H1.0, H1(0), H1-0"	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.220C>T	22.37:g.38201771C>T	ENSP00000344504:p.Arg74Cys		B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.R74C	ENST00000340857.2	37	c.220	CCDS13956.1	22	.	.	.	.	.	.	.	.	.	.	c	19.21	3.784268	0.70222	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.24908	1.83	4.99	3.87	0.44632	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.64232	-0.6456	10	0.87932	D	0	.	13.0861	0.59142	0.2797:0.7203:0.0:0.0	.	74	P07305	H10_HUMAN	C	74;57	ENSP00000344504:R74C	ENSP00000344504:R74C	R	+	1	0	H1F0	36531717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.091000	0.41691	2.490000	0.84030	0.650000	0.86243	CGC	H1F0	-	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5		0.592	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1F0	HGNC	protein_coding	OTTHUMT00000319453.1	C	NM_005318		38201771	1	no_errors	ENST00000340857	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38201771	C	T	38201771	3	4	127	1	0	0	0	0	1	0	0	0	6940	768	27	2	222	2	H1F0	22	38201771	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	19017980	38201771	13102795	151	19783										
ADSL	158	genome.wustl.edu	37	chr22	40759015	40759015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ttggccgaggcatttcttacCgcagatactatattgaatac	8	9	1	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:40759015C>T	ENST00000216194.7	+	10	1097	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	ADSL_ENST00000454266.2_Silent_p.T361T|ADSL_ENST00000342312.6_Silent_p.T347T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	347					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.T347T(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CATTTCTTACCGCAGATACTA	0.403																																					Colon(4;65 130 1097 1516)												2	Substitution - coding silent(2)	cervix(2)											216	214	215					22																	40759015		2203	4300	6503	SO:0001819	synonymous_variant	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1041C>T	22.37:g.40759015C>T			B0QY76|O75495|Q5TI34	Silent	SNP	pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase	p.T361	ENST00000216194.7	37	c.1083	CCDS14001.1	22																																																																																			ADSL	-	superfamily_L-Aspartase-like,tigrfam_Pur_lyase		0.403	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	C	NM_000026		40759015	1	no_errors	ENST00000454266	ensembl	human	known	70_37	silent	SNP	0.407	T	T	40759015	C	T	40759015	2	4	127	1	0	0	0	0	0	0	0	1	346	639	23	2		2	ADSL	22	40759015	Silent	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	2557244	40759015	10545551	152	19784										
SAPS2	9701	genome.wustl.edu	37	chr22	50879329	50879329	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	ggcctctgacagtagctcctCtgggggctcccacagcgagg	14	14	2	1			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chr22:50879329C>G	ENST00000216061.5	+	23	2844	c.2474C>G	c.(2473-2475)tCt>tGt	p.S825C	PPP6R2_ENST00000359139.3_Missense_Mutation_p.S792C|PPP6R2_ENST00000395741.3_Missense_Mutation_p.S792C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.S791C			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	825	Poly-Ser.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.S791C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGTAGCTCCTCTGGGGGCTCC	0.677																																																	1	Substitution - Missense(1)	cervix(1)											56	62	60					22																	50879329		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2474C>G	22.37:g.50879329C>G	ENSP00000216061:p.Ser825Cys		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S825C	ENST00000216061.5	37	c.2474		22	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419061	0.62622	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.68	2.65	0.31530	.	0.828664	0.11486	N	0.559187	T	0.56949	0.2020	L	0.43923	1.385	0.44181	D	0.996999	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;0.997;0.999	D;D;P;D;D;D	0.72625	0.956;0.939;0.817;0.978;0.912;0.959	T	0.56238	-0.8012	10	0.62326	D	0.03	-10.128	8.0757	0.30716	0.0:0.8745:0.0:0.1255	.	351;818;825;792;791;792	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	C	792;792;791;825	ENSP00000352051:S792C;ENSP00000379090:S792C;ENSP00000379093:S791C;ENSP00000216061:S825C	ENSP00000216061:S825C	S	+	2	0	PPP6R2	49226195	1.000000	0.71417	0.868000	0.34077	0.735000	0.41995	3.116000	0.50399	1.578000	0.49821	0.491000	0.48974	TCT	PPP6R2	-	NULL		0.677	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	C	NM_014678		50879329	1	no_errors	ENST00000216061	ensembl	human	known	70_37	missense	SNP	0.997	G	G	50879329	C	G	50879329	3	3	127	1	0	0	0	0	1	0	0	0	13867	913	32	1	2446	1	SAPS2	22	50879329	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	10120314	50879329	425237	153	19785										
AR	367	genome.wustl.edu	37	chrX	66931424	66931424	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	gccaggtgtagtgtgtgctgGacacgacaacaaccagcccg	13	12	0	0			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:66931424G>C	ENST00000374690.3	+	4	2590	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	AR_ENST00000396044.3_Missense_Mutation_p.G689A|AR_ENST00000396043.2_Missense_Mutation_p.G157A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	688	Interaction with KAT7.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G499A(1)|p.G689A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTGTGTGCTGGACACGACAAC	0.527									Androgen Insensitivity Syndrome																																								2	Substitution - Missense(2)	cervix(2)	GRCh37	CM980107	AR	M							126	88	101					X																	66931424		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2066G>C	X.37:g.66931424G>C	ENSP00000363822:p.Gly689Ala		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.G689A	ENST00000374690.3	37	c.2066	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	22.7	4.329385	0.81690	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396044;ENST00000396043	D;D;D	0.99778	-6.73;-2.4;-6.73	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.96972	0.9709	10	0.87932	D	0	.	14.8589	0.70362	0.0:0.0:1.0:0.0	.	157;688	F1D8N5;P10275	.;ANDR_HUMAN	A	499;689;689;157	ENSP00000363822:G689A;ENSP00000379359:G689A;ENSP00000379358:G157A	ENSP00000363822:G689A	G	+	2	0	AR	66848149	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.654000	0.98509	2.388000	0.81334	0.591000	0.81541	GGA	AR	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.527	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66931424	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66931424	G	C	66931424	3	2	127	1	0	0	0	0	1	0	0	0	836	1174	41	1	2104	1	AR	23	66931424	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08		66931424	88339136	154	19786										
NOX1	27035	genome.wustl.edu	37	chrX	100118508	100118508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tcaggaaggacagcagattgCgacacacaggaagcaggatc	13	9	1	1	rs373860304		TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:100118508C>T	ENST00000372966.3	-	3	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H	NOX1_ENST00000372960.4_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R73H|NOX1_ENST00000372964.1_Missense_Mutation_p.R73H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	73	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.R73H(2)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCAGATTGCGACACACAGG	0.517																																																	2	Substitution - Missense(2)	cervix(2)											99	76	84					X																	100118508		2203	4299	6502	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.218G>A	X.37:g.100118508C>T	ENSP00000362057:p.Arg73His		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R73H	ENST00000372966.3	37	c.218	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697151	0.48202	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885	D;D;D	0.99778	-4.84;-6.73;-4.97	3.91	3.91	0.45181	Flavoprotein transmembrane component (1);	0.136302	0.47852	D	0.000201	D	0.99849	0.9930	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96464	0.9343	10	0.87932	D	0	-0.0256	14.1129	0.65134	0.0:1.0:0.0:0.0	.	73;73	Q9Y5S8-3;Q9Y5S8	.;NOX1_HUMAN	H	73	ENSP00000362057:R73H;ENSP00000362055:R73H;ENSP00000217885:R73H	ENSP00000217885:R73H	R	-	2	0	NOX1	100005164	1.000000	0.71417	0.421000	0.26609	0.068000	0.16541	4.744000	0.62118	1.954000	0.56735	0.594000	0.82650	CGC	NOX1	-	pfam_Fe3_Rdtase_TM_dom		0.517	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	C	NM_007052		100118508	-1	no_errors	ENST00000372966	ensembl	human	known	70_37	missense	SNP	0.994	T	T	100118508	C	T	100118508	3	4	127	1	0	0	0	0	1	0	0	0	10580	768	27	2	1520	2	NOX1	23	100118508	Missense_Mutation	SNP	C	TCGA-FU-A23L-01A-11D-A16O-08	33187084	100118508	55152052	155	19787										
MAGEC1	9947	genome.wustl.edu	37	chrX	140994453	140994453	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	tccttctcctctactttattGagtattttacagagttctcc	4	11	3	2			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:140994453G>C	ENST00000285879.4	+	4	1549	c.1263G>C	c.(1261-1263)ttG>ttC	p.L421F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	421								p.L421F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTTTATTGAGTATTTTAC	0.463										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	cervix(1)											103	114	110					X																	140994453		2194	4287	6481	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1263G>C	X.37:g.140994453G>C	ENSP00000285879:p.Leu421Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L421F	ENST00000285879.4	37	c.1263	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	2.639	-0.284584	0.05605	.	.	ENSG00000155495	ENST00000285879	T	0.02944	4.1	.	.	.	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.45585	-0.9251	8	0.87932	D	0	.	2.9033	0.05713	2.0E-4:2.0E-4:0.5066:0.493	.	421	O60732	MAGC1_HUMAN	F	421	ENSP00000285879:L421F	ENSP00000285879:L421F	L	+	3	2	MAGEC1	140822119	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.233000	0.17911	0.148000	0.19059	0.150000	0.16122	TTG	MAGEC1	-	NULL		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	G	NM_005462		140994453	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.003	C	C	140994453	G	C	140994453	3	2	127	1	0	0	0	0	1	0	0	0	9203	1281	45	1	1269	1	MAGEC1	23	140994453	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	40875945	140994453	14276107	156	19788										
F8	2157	genome.wustl.edu	37	chrX	154066005	154066005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.445859872611465	70	3.35922335925747e-26	3.91389738598443	4.98914392059553	3.0402595766129	0.133192189244953	0.327079553335707	52	agttcaccacaggtgtgaagGagtcttgatttccctgaaaa	10	8	2	3			TCGA-FU-A23L-01A-11D-A16O-08	TCGA-FU-A23L-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99551676-a16b-4a7c-84a2-571731130d86	6881795c-5c2f-4406-ae0a-62c58056b4f2	g.chrX:154066005G>T	ENST00000360256.4	-	26	7123	c.6923C>A	c.(6922-6924)tCc>tAc	p.S2308Y	F8_ENST00000330287.6_Missense_Mutation_p.S173Y	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2308	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S2308Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGTGTGAAGGAGTCTTGATT	0.483																																																	2	Substitution - Missense(2)	cervix(2)											70	62	65					X																	154066005		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6923C>A	X.37:g.154066005G>T	ENSP00000353393:p.Ser2308Tyr		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S2308Y	ENST00000360256.4	37	c.6923	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	10.30	1.311796	0.23821	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98207	-4.79;-4.79	4.74	3.77	0.43336	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.856597	0.10553	N	0.661229	D	0.96639	0.8903	L	0.29908	0.895	0.37409	D	0.913141	D;B	0.54772	0.968;0.077	P;B	0.52424	0.698;0.119	D	0.95038	0.8175	10	0.54805	T	0.06	-7.4409	7.633	0.28251	0.0:0.0:0.6628:0.3371	.	2308;173	P00451;Q14286	FA8_HUMAN;.	Y	173;2308	ENSP00000327895:S173Y;ENSP00000353393:S2308Y	ENSP00000327895:S173Y	S	-	2	0	F8	153719199	0.950000	0.32346	1.000000	0.80357	0.997000	0.91878	2.730000	0.47335	1.932000	0.55993	0.526000	0.51066	TCC	F8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.483	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154066005	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.980	T	T	154066005	G	T	154066005	3	4	127	1	0	0	0	0	1	0	0	0	5362	1174	41	3	136	3	F8	23	154066005	Missense_Mutation	SNP	G	TCGA-FU-A23L-01A-11D-A16O-08	13071552	154066005	1204555	157	19789										
SLC45A1	50651	genome.wustl.edu	37	chr1	8390366	8390366	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cagctccgagtcatttacctCttcactgcggtcaccctgag	8	15	4	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:8390366C>T	ENST00000471889.1	+	5	1198	c.813C>T	c.(811-813)ctC>ctT	p.L271L	SLC45A1_ENST00000377479.2_Silent_p.L305L|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.L271L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	271					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCATTTACCTCTTCACTGCGG	0.637																																																	0													70	72	71					1																	8390366		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.813C>T	1.37:g.8390366C>T			Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L305	ENST00000471889.1	37	c.915	CCDS30577.1	1																																																																																			SLC45A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.637	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	C			8390366	1	no_errors	ENST00000377479	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8390366	C	T	8390366	2	4	128	1	0	0	0	0	0	0	0	1	14670	900	32	1		1	SLC45A1	1	8390366	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		8390366	240860255	1	19790										
UBL4B	164153	genome.wustl.edu	37	chr1	110655651	110655651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cagagctcctgtgacatggaGgagaaggaggaggcagcagc	17	8	0	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:110655651G>A	ENST00000334179.3	+	1	590	c.495G>A	c.(493-495)gaG>gaA	p.E165E		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	165						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTGACATGGAGGAGAAGGAGG	0.582																																																	0													19	21	20					1																	110655651		2201	4289	6490	SO:0001819	synonymous_variant	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.495G>A	1.37:g.110655651G>A				Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E165	ENST00000334179.3	37	c.495	CCDS820.1	1																																																																																			UBL4B	-	NULL		0.582	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4B	HGNC	protein_coding	OTTHUMT00000392303.1	G	NM_203412		110655651	1	no_errors	ENST00000334179	ensembl	human	known	70_37	silent	SNP	0.002	A	A	110655651	G	A	110655651	2	1	128	1	0	0	0	0	0	0	0	1	16919	991	35	4		4	UBL4B	1	110655651	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	102265285	110655651	138594970	2	19791										
XPR1	9213	genome.wustl.edu	37	chr1	180849254	180849254	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cgcctggagaatgaacatctGaataactgtggtgaattccg	11	8	1	4			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:180849254G>C	ENST00000367590.4	+	14	2049	c.1851G>C	c.(1849-1851)ctG>ctC	p.L617L	XPR1_ENST00000367589.3_Silent_p.L552L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	617	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATGAACATCTGAATAACTGTG	0.463																																																	0													117	116	116					1																	180849254		2203	4300	6503	SO:0001819	synonymous_variant	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1851G>C	1.37:g.180849254G>C			O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	pfam_EXS_C,pfam_SPX_N	p.L617	ENST00000367590.4	37	c.1851	CCDS1340.1	1																																																																																			XPR1	-	pfam_EXS_C		0.463	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	G	NM_004736		180849254	1	no_errors	ENST00000367590	ensembl	human	known	70_37	silent	SNP	1.000	C	C	180849254	G	C	180849254	2	2	128	1	0	0	0	0	0	0	0	1	17482	1277	45	1		1	XPR1	1	180849254	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	70193603	180849254	68401367	3	19792										
ATP2B4	493	genome.wustl.edu	37	chr1	203708795	203708795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	catagaggaggagttgccacGaacaccactcctggatgagg	13	10	0	2	rs567340474		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:203708795G>A	ENST00000357681.5	+	21	4554	c.3431G>A	c.(3430-3432)cGa>cAa	p.R1144Q	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1180				K -> N (in Ref. 8; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGTTGCCACGAACACCACTC	0.507																																																	0													124	112	116					1																	203708795		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3431G>A	1.37:g.203708795G>A	ENSP00000350310:p.Arg1144Gln		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R1144Q	ENST00000357681.5	37	c.3431	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003876	0.54254	.	.	ENSG00000058668	ENST00000357681	T	0.78246	-1.16	5.46	0.342	0.15996	.	1.441180	0.04770	N	0.427848	T	0.68961	0.3058	L	0.38175	1.15	0.80722	D	1	B	0.19583	0.037	B	0.12156	0.007	T	0.43798	-0.9369	10	0.29301	T	0.29	2.2627	9.6176	0.39701	0.3409:0.0:0.6591:0.0	.	1144	P23634-6	.	Q	1144	ENSP00000350310:R1144Q	ENSP00000350310:R1144Q	R	+	2	0	ATP2B4	201975418	0.268000	0.24133	0.416000	0.26546	0.983000	0.72400	0.324000	0.19610	-0.189000	0.10482	0.655000	0.94253	CGA	ATP2B4	-	pfam_ATP_Ca_trans_C		0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	G	NM_001001396		203708795	1	no_errors	ENST00000357681	ensembl	human	known	70_37	missense	SNP	0.938	A	A	203708795	G	A	203708795	3	1	128	1	0	0	0	0	1	0	0	0	1143	1058	37	1	3691	1	ATP2B4	1	203708795	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	22859541	203708795	45541826	4	19793										
ZNF238	10472	genome.wustl.edu	37	chr1	244217341	244217341	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccgctttcgctctcctgcttGaattcatgtatgaagggaaa	9	10	2	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:244217341G>C	ENST00000358704.4	+	2	414	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTCCTGCTTGAATTCATGTA	0.453																																																	0													68	68	68					1																	244217341		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.265G>C	1.37:g.244217341G>C	ENSP00000351539:p.Glu89Gln		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E89Q	ENST00000358704.4	37	c.265	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887844	0.72410	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.72051	-0.62	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.37466	1.105	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.995	D;P;D	0.79108	0.992;0.902;0.941	T	0.79997	-0.1567	10	0.52906	T	0.07	.	18.2404	0.89966	0.0:0.0:1.0:0.0	.	89;80;89	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	Q	89	ENSP00000351539:E89Q	ENSP00000351539:E89Q	E	+	1	0	ZNF238	242283964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.315000	0.78130	0.655000	0.94253	GAA	ZNF238	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.453	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217341	1	no_errors	ENST00000358704	ensembl	human	known	70_37	missense	SNP	1.000	C	C	244217341	G	C	244217341	3	2	128	1	0	0	0	0	1	0	0	0	17820	1291	45	1	271	1	ZNF238	1	244217341	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	40508546	244217341	5033280	5	19794										
SULT6B1	391365	genome.wustl.edu	37	chr2	37398707	37398707	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aagaatcccaagaactcagcAatctgttttattccagcagc	6	11	2	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:37398707A>T	ENST00000535679.1	-	6	650	c.651T>A	c.(649-651)atT>atA	p.I217I	SULT6B1_ENST00000379149.2_Silent_p.I113I|SULT6B1_ENST00000407963.1_Silent_p.I179I|SULT6B1_ENST00000260637.3_Silent_p.I179I			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	217						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				AGAACTCAGCAATCTGTTTTA	0.403																																																	0													91	91	91					2																	37398707		2203	4300	6503	SO:0001819	synonymous_variant	391365			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.651T>A	2.37:g.37398707A>T			B2RTS7	Silent	SNP	pfam_Sulfotransferase_dom	p.I217	ENST00000535679.1	37	c.651		2																																																																																			SULT6B1	-	pfam_Sulfotransferase_dom		0.403	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		A	NM_001032377		37398707	-1	no_errors	ENST00000535679	ensembl	human	known	70_37	silent	SNP	0.002	T	T	37398707	A	T	37398707	2	4	128	1	0	0	0	0	0	0	0	1	15414	126	5	5		5	SULT6B1	2	37398707	Silent	SNP	A	TCGA-FU-A2QG-01A-11D-A18J-09		37398707	205800666	6	19795										
PKDCC	91461	genome.wustl.edu	37	chr2	42275816	42275816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	taccgggtccgcctgcccggCggtgccgcggtggcgctcaa	16	16	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:42275816C>T	ENST00000294964.5	+	1	657	c.477C>T	c.(475-477)ggC>ggT	p.G159G		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GCCTGCCCGGCGGTGCCGCGG	0.731																																																	0													5	7	6					2																	42275816		661	1562	2223	SO:0001819	synonymous_variant	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.477C>T	2.37:g.42275816C>T				Missense_Mutation	SNP	NULL	p.A112V	ENST00000294964.5	37	c.335	CCDS33186.2	2																																																																																			PKDCC	-	NULL		0.731	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	C			42275816	1	no_errors	ENST00000401498	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42275816	C	T	42275816	2	4	128	1	0	0	0	0	0	0	0	1	11993	755	27	2		2	PKDCC	2	42275816	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	4877109	42275816	200923557	7	19796										
THADA	63892	genome.wustl.edu	37	chr2	43801659	43801659	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cactggtcaatccaagaactCtcagcagtctgggatttcaa	8	11	4	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:43801659C>T	ENST00000405006.4	-	11	1896	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	THADA_ENST00000403856.1_Silent_p.E515E|THADA_ENST00000415080.2_Silent_p.E225E|THADA_ENST00000330266.7_Silent_p.E225E|THADA_ENST00000405975.2_Silent_p.E515E|THADA_ENST00000404790.1_Silent_p.E515E|THADA_ENST00000402360.2_Silent_p.E515E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	515										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCAAGAACTCTCAGCAGTCT	0.398																																																	0													61	61	61					2																	43801659		1853	4097	5950	SO:0001819	synonymous_variant	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1545G>A	2.37:g.43801659C>T			A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.E515	ENST00000405006.4	37	c.1545	CCDS46268.1	2																																																																																			THADA	-	superfamily_ARM-type_fold		0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43801659	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43801659	C	T	43801659	2	4	128	1	0	0	0	0	0	0	0	1	15870	912	32	1		1	THADA	2	43801659	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	1525843	43801659	199397714	8	19797										
MYO7B	4648	genome.wustl.edu	37	chr2	128388905	128388905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	agcgagtccacgccaacgtcGacctctgggacatcgcctgc	11	16	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:128388905G>A	ENST00000409816.2	+	35	5016	c.4984G>A	c.(4984-4986)Gac>Aac	p.D1662N	MYO7B_ENST00000389524.4_Missense_Mutation_p.D1662N|MYO7B_ENST00000409090.1_Missense_Mutation_p.D515N|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1662N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1662	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCAACGTCGACCTCTGGGA	0.662																																																	0													43	47	46					2																	128388905		2155	4259	6414	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4984G>A	2.37:g.128388905G>A	ENSP00000386461:p.Asp1662Asn		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.D1662N	ENST00000409816.2	37	c.4984	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	16.94	3.261575	0.59431	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.88277	-2.35;-2.36;-2.36;-2.2	5.77	3.96	0.45880	MyTH4 domain (2);	.	.	.	.	D	0.87156	0.6107	M	0.65498	2.005	0.29685	N	0.841374	D	0.59357	0.985	B	0.41988	0.372	T	0.82325	-0.0513	9	0.54805	T	0.06	.	11.3662	0.49673	0.1496:0.0:0.8504:0.0	.	1662	Q6PIF6	MYO7B_HUMAN	N	1662;1662;757;1662;515	ENSP00000374175:D1662N;ENSP00000415090:D1662N;ENSP00000386461:D1662N;ENSP00000386850:D515N	ENSP00000272666:D757N	D	+	1	0	MYO7B	128105375	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	6.375000	0.73137	0.771000	0.33359	0.655000	0.94253	GAC	MYO7B	-	smart_MyTH4_dom,pfscan_MyTH4_dom		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	G	XM_291001		128388905	1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	0.736	A	A	128388905	G	A	128388905	3	1	128	1	0	0	0	0	1	0	0	0	10106	1058	37	1	5122	1	MYO7B	2	128388905	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	84587246	128388905	114810468	9	19798										
SCN1A	6323	genome.wustl.edu	37	chr2	166848733	166848733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ttggacatcccaaagatggcGtagatgaacatgactaggaa	11	7	0	4			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:166848733G>A	ENST00000303395.4	-	26	5051	c.5052C>T	c.(5050-5052)taC>taT	p.Y1684Y	SCN1A_ENST00000423058.2_Silent_p.Y1684Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.Y1656Y|SCN1A_ENST00000375405.3_Silent_p.Y1673Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1684					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGATGGCGTAGATGAACA	0.473																																																	0													181	166	171					2																	166848733		2203	4300	6503	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5052C>T	2.37:g.166848733G>A			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.Y1684	ENST00000303395.4	37	c.5052	CCDS54413.1	2																																																																																			SCN1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	G	NM_006920		166848733	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	silent	SNP	0.934	A	A	166848733	G	A	166848733	2	1	128	1	0	0	0	0	0	0	0	1	13944	1140	40	2		2	SCN1A	2	166848733	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	38459828	166848733	76350640	10	19799										
FSIP2	401024	genome.wustl.edu	37	chr2	186672655	186672655	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gaacaaaatctctagagactGatatgcaaaaaataacttca	5	7	2	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:186672655G>A	ENST00000424728.1	+	17	18622	c.18622G>A	c.(18622-18624)Gat>Aat	p.D6208N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6297N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6208										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTAGAGACTGATATGCAAAA	0.289																																																	0													24	22	23					2																	186672655		1787	4044	5831	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18622G>A	2.37:g.186672655G>A	ENSP00000401306:p.Asp6208Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D6297N	ENST00000424728.1	37	c.18889		2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889356	0.52014	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.46451	0.87;0.87	4.96	4.96	0.65561	.	0.354983	0.24147	N	0.041114	T	0.40743	0.1129	L	0.34521	1.04	0.26584	N	0.973316	.	.	.	.	.	.	T	0.32877	-0.9890	8	0.40728	T	0.16	.	13.5718	0.61851	0.0:0.0:1.0:0.0	.	.	.	.	N	6297;6208	ENSP00000344403:D6297N;ENSP00000401306:D6208N	ENSP00000344403:D6297N	D	+	1	0	FSIP2	186380900	0.996000	0.38824	0.929000	0.37066	0.327000	0.28475	3.097000	0.50251	2.580000	0.87095	0.484000	0.47621	GAT	FSIP2	-	NULL		0.289	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186672655	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.965	A	A	186672655	G	A	186672655	3	1	128	1	0	0	0	0	1	0	0	0	6093	1290	45	1	18955	1	FSIP2	2	186672655	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	19823922	186672655	56526718	11	19800										
CREB1	1385	genome.wustl.edu	37	chr2	208440097	208440097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccaatgcagcagccactcagCcgggtactaccattctacag	8	15	2	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:208440097C>T	ENST00000432329.2	+	7	900	c.649C>T	c.(649-651)Ccg>Tcg	p.P217S	CREB1_ENST00000374397.4_Intron|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000430624.1_Missense_Mutation_p.P203S|CREB1_ENST00000353267.3_Missense_Mutation_p.P203S|CREB1_ENST00000536726.1_Missense_Mutation_p.P203S	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	217					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	AGCCACTCAGCCGGGTACTAC	0.498			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"																																			Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0													135	119	125					2																	208440097		2203	4300	6503	SO:0001583	missense	1385			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"basic leucine zipper proteins"	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.649C>T	2.37:g.208440097C>T	ENSP00000387699:p.Pro217Ser		P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.P217S	ENST00000432329.2	37	c.649	CCDS2375.1	2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777042	0.49786	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000536726;ENST00000448277;ENST00000455757	T;T;T;T;T;T	0.77877	0.45;0.45;0.45;-1.13;0.49;1.48	5.87	4.95	0.65309	.	0.100236	0.64402	D	0.000001	T	0.75421	0.3847	N	0.24115	0.695	0.80722	D	1	P;B;B	0.46395	0.877;0.012;0.03	P;B;B	0.49999	0.628;0.012;0.008	T	0.77373	-0.2612	10	0.51188	T	0.08	-11.5668	18.6514	0.91431	0.0:0.8738:0.1262:0.0	.	203;203;217	F5H0V3;Q53X93;P16220	.;.;CREB1_HUMAN	S	203;217;203;203;163;30	ENSP00000405539:P203S;ENSP00000387699:P217S;ENSP00000236995:P203S;ENSP00000445892:P203S;ENSP00000405711:P163S;ENSP00000401803:P30S	ENSP00000236995:P203S	P	+	1	0	CREB1	208148342	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.042000	0.70996	2.785000	0.95823	0.655000	0.94253	CCG	CREB1	-	NULL		0.498	CREB1-001	KNOWN	basic|CCDS	protein_coding	CREB1	HGNC	protein_coding	OTTHUMT00000256467.3	C	NM_134442		208440097	1	no_errors	ENST00000432329	ensembl	human	known	70_37	missense	SNP	1.000	T	T	208440097	C	T	208440097	3	4	128	1	0	0	0	0	1	0	0	0	3859	739	26	4	671	4	CREB1	2	208440097	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	21767442	208440097	34759276	12	19801										
FGD5	152273	genome.wustl.edu	37	chr3	14860691	14860691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gaacaaatgcagcaacgggcGgctgccctgtgtagacaggg	15	10	0	1	rs368711724	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:14860691G>A	ENST00000285046.5	+	1	223	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	FGD5_ENST00000543601.1_5'Flank	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	38					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGCAACGGGCGGCTGCCCTGT	0.612													G|||	7	0.00139776	0.0045	0	5008	,	,		18182	0		0	False		,,,				2504	0.001																0								G	GLN/ARG	4,1380		0,4,688	29	31	30		113	1.2	0.9	3		30	0,3182		0,0,1591	no	missense	FGD5	NM_152536.3	43	0,4,2279	AA,AG,GG		0.0,0.289,0.0876	benign	38/1463	14860691	4,4562	692	1591	2283	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.113G>A	3.37:g.14860691G>A	ENSP00000285046:p.Arg38Gln		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R38Q	ENST00000285046.5	37	c.113	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469688	0.43839	0.00289	0.0	ENSG00000154783	ENST00000285046	T	0.74632	-0.86	5.76	1.25	0.21368	.	0.302725	0.27609	N	0.018607	T	0.50735	0.1633	N	0.14661	0.345	0.28045	N	0.933587	B	0.23650	0.089	B	0.09377	0.004	T	0.41822	-0.9487	10	0.59425	D	0.04	-15.0555	4.8283	0.13427	0.623:0.1655:0.2114:0.0	.	38	Q6ZNL6	FGD5_HUMAN	Q	38	ENSP00000285046:R38Q	ENSP00000285046:R38Q	R	+	2	0	FGD5	14835695	0.302000	0.24454	0.910000	0.35882	0.549000	0.35272	0.396000	0.20867	-0.002000	0.14469	0.591000	0.81541	CGG	FGD5	-	NULL		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14860691	1	no_errors	ENST00000285046	ensembl	human	known	70_37	missense	SNP	0.546	A	A	14860691	G	A	14860691	3	1	128	1	0	0	0	0	1	0	0	0	5854	1116	39	2	115	2	FGD5	3	14860691	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		14860691	183161739	13	19802										
PLCL2	23228	genome.wustl.edu	37	chr3	17052190	17052190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cttaatagaggatcagttccGaggtccctccgacatcacag	9	12	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:17052190G>A	ENST00000418129.2	+	2	1439	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	PLCL2_ENST00000396755.2_Missense_Mutation_p.R325Q|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.R325Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	451					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GATCAGTTCCGAGGTCCCTCC	0.413																																																	0													113	122	119					3																	17052190		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.974G>A	3.37:g.17052190G>A	ENSP00000409637:p.Arg325Gln		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R325Q	ENST00000418129.2	37	c.974	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.130713|4.130713	0.77549|0.77549	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.63096	.|-0.02;-0.02;-0.02	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.061364	.|0.64402	.|D	.|0.000003	T|T	0.74329|0.74329	0.3702|0.3702	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.61080	.|0.989	.|P	.|0.57720	.|0.826	T|T	0.68644|0.68644	-0.5354|-0.5354	4|9	.|0.29301	.|T	.|0.29	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|451	.|Q9UPR0	.|PLCL2_HUMAN	K|Q	69|325;452;325;325	.|ENSP00000409637:R325Q;ENSP00000379979:R325Q;ENSP00000412836:R325Q	.|ENSP00000285094:R452Q	E|R	+|+	1|2	0|0	PLCL2|PLCL2	17027194|17027194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|CGA	PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17052190	1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17052190	G	A	17052190	3	1	128	1	0	0	0	0	1	0	0	0	12064	1058	37	1	1352	1	PLCL2	3	17052190	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	2191499	17052190	180970240	14	19803										
SNRK	54861	genome.wustl.edu	37	chr3	43388892	43388892	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aggatgacctcacggccactCctttgtcccacgcgactgtc	9	16	1	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:43388892C>G	ENST00000296088.7	+	7	1445	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.P381A|SNRK_ENST00000437827.1_Missense_Mutation_p.P175A|SNRK_ENST00000429705.2_Missense_Mutation_p.P381A|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACGGCCACTCCTTTGTCCCA	0.522																																																	0													80	87	85					3																	43388892		2029	4189	6218	SO:0001583	missense	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1141C>G	3.37:g.43388892C>G	ENSP00000296088:p.Pro381Ala			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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P381A	ENST00000296088.7	37	c.1141	CCDS43075.1	3	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657907	0.29425	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.62941	-0.01;-0.01;-0.01;2.87	5.07	5.07	0.68467	.	0.056766	0.64402	D	0.000001	T	0.44286	0.1286	N	0.08118	0	0.46149	D	0.998893	B	0.12630	0.006	B	0.09377	0.004	T	0.28522	-1.0041	10	0.25106	T	0.35	.	18.8287	0.92128	0.0:1.0:0.0:0.0	.	381	Q9NRH2	SNRK_HUMAN	A	381;381;381;175	ENSP00000401246:P381A;ENSP00000411375:P381A;ENSP00000296088:P381A;ENSP00000409516:P175A	ENSP00000296088:P381A	P	+	1	0	SNRK	43363896	1.000000	0.71417	0.188000	0.23233	0.660000	0.38997	4.520000	0.60524	2.535000	0.85469	0.655000	0.94253	CCT	SNRK	-	NULL		0.522	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRK	HGNC	protein_coding	OTTHUMT00000344325.1	C	NM_017719		43388892	1	no_errors	ENST00000296088	ensembl	human	known	70_37	missense	SNP	0.982	G	G	43388892	C	G	43388892	3	3	128	1	0	0	0	0	1	0	0	0	14881	855	30	1	1159	1	SNRK	3	43388892	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	26336702	43388892	154633538	15	19804										
DNAH1	25981	genome.wustl.edu	37	chr3	52397151	52397151	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aagctgtcttctgagcagctCagctcccaggtgtggtcctg	12	12	3	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:52397151C>G	ENST00000420323.2	+	32	5496	c.5235C>G	c.(5233-5235)ctC>ctG	p.L1745L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1745	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCAGCTCAGCTCCCAGG	0.557																																																	0													95	95	95					3																	52397151		2013	4184	6197	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5235C>G	3.37:g.52397151C>G			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L1745	ENST00000420323.2	37	c.5235	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52397151	1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.970	G	G	52397151	C	G	52397151	2	3	128	1	0	0	0	0	0	0	0	1	4607	813	29	1		1	DNAH1	3	52397151	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	9008259	52397151	145625279	16	19805										
ZBBX	79740	genome.wustl.edu	37	chr3	167090668	167090668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aggttttccccatggaagaaCtacaaaatcttttctgttca	6	9	3	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:167090668C>T	ENST00000392766.2	-	4	362	c.22G>A	c.(22-24)Gtt>Att	p.V8I	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.V8I|ZBBX_ENST00000392767.2_Missense_Mutation_p.V8I|ZBBX_ENST00000455345.2_Missense_Mutation_p.V8I|ZBBX_ENST00000392764.1_5'UTR	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	8						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATGGAAGAACTACAAAATCT	0.279																																																	0													55	54	54					3																	167090668		1789	4050	5839	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.22G>A	3.37:g.167090668C>T	ENSP00000376519:p.Val8Ile		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.V8I	ENST00000392766.2	37	c.22	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848792	0.71603	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000474464	T;T;T;T;T	0.34275	2.75;2.75;2.75;2.75;1.37	5.63	5.63	0.86233	.	.	.	.	.	T	0.53738	0.1815	L	0.50333	1.59	0.36818	D	0.886255	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.56559	-0.7959	9	0.42905	T	0.14	-8.4197	15.1875	0.73016	0.0:1.0:0.0:0.0	.	8;8	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	8	ENSP00000376519:V8I;ENSP00000376520:V8I;ENSP00000390232:V8I;ENSP00000305065:V8I;ENSP00000419307:V8I	ENSP00000305065:V8I	V	-	1	0	ZBBX	168573362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.002000	0.40835	2.664000	0.90586	0.591000	0.81541	GTT	ZBBX	-	NULL		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	C	NM_024687		167090668	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167090668	C	T	167090668	3	4	128	1	0	0	0	0	1	0	0	0	17547	565	20	4	2452	4	ZBBX	3	167090668	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	114693517	167090668	30931762	17	19806										
SMR3A	26952	genome.wustl.edu	37	chr4	71232574	71232574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cctatggtccagggagaattCaatcacactctcttcctcct	6	14	3	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr4:71232574C>G	ENST00000226460.4	+	3	364	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	90	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				AGGGAGAATTCAATCACACTC	0.537																																																	0													178	158	165					4																	71232574		2203	4300	6503	SO:0001583	missense	26952			D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"proline rich 5 (salivary)", "submaxillary gland androgen regulated protein 3 homolog A (mouse)"	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.268C>G	4.37:g.71232574C>G	ENSP00000226460:p.Gln90Glu			Missense_Mutation	SNP	NULL	p.Q90E	ENST00000226460.4	37	c.268	CCDS34000.1	4	.	.	.	.	.	.	.	.	.	.	C	6.326	0.428247	0.11987	.	.	ENSG00000109208	ENST00000226460	T	0.28454	1.61	3.25	3.25	0.37280	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.15752	-1.0426	9	0.12766	T	0.61	.	10.2401	0.43308	0.0:1.0:0.0:0.0	.	90	Q99954	SMR3A_HUMAN	E	90	ENSP00000226460:Q90E	ENSP00000226460:Q90E	Q	+	1	0	SMR3A	71267163	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.409000	0.21082	2.115000	0.64714	0.561000	0.74099	CAA	SMR3A	-	NULL		0.537	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	C	NM_012390		71232574	1	no_errors	ENST00000226460	ensembl	human	known	70_37	missense	SNP	0.003	G	G	71232574	C	G	71232574	3	3	128	1	0	0	0	0	1	0	0	0	14841	827	29	1	274	1	SMR3A	4	71232574	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		71232574	119921702	18	19807										
FBXW7	55294	genome.wustl.edu	37	chr4	153247304	153247304	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	acagcggactgctgcaacatGacccatcaaaacatgtaaac	7	12	1	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr4:153247304G>C	ENST00000281708.4	-	10	2727	c.1498C>G	c.(1498-1500)Cat>Gat	p.H500D	FBXW7_ENST00000393956.3_Missense_Mutation_p.H324D|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420D|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500D|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500D|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	500					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.H500N(1)|p.H420N(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTGCAACATGACCCATCAAA	0.463			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	3	Substitution - Missense(2)|Unknown(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)											155	145	149					4																	153247304		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1498C>G	4.37:g.153247304G>C	ENSP00000281708:p.His500Asp		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H500D	ENST00000281708.4	37	c.1498	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874594	0.72180	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94587	0.7784	10	0.87932	D	0	-18.2384	19.956	0.97218	0.0:0.0:1.0:0.0	.	324;500;382;420	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	D	500;382;420;324	ENSP00000281708:H500D;ENSP00000296555:H382D;ENSP00000263981:H420D;ENSP00000377528:H324D	ENSP00000263981:H420D	H	-	1	0	FBXW7	153466754	1.000000	0.71417	0.997000	0.53966	0.437000	0.31866	9.772000	0.98984	2.788000	0.95919	0.557000	0.71058	CAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.463	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247304	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153247304	G	C	153247304	3	2	128	1	0	0	0	0	1	0	0	0	5787	1290	45	1	637	1	FBXW7	4	153247304	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	82014730	153247304	37906972	19	19808										
RASA1	5921	genome.wustl.edu	37	chr5	86682684	86682684	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aatccattcatcaaaagcaaCaaacatcgtatgatcatgtt	4	9	3	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:86682684C>G	ENST00000274376.6	+	23	3453	c.2889C>G	c.(2887-2889)aaC>aaG	p.N963K	RASA1_ENST00000456692.2_Missense_Mutation_p.N786K|RASA1_ENST00000512763.1_Missense_Mutation_p.N796K|RASA1_ENST00000506290.1_Missense_Mutation_p.N797K	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	963					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAAAGCAACAAACATCGTA	0.338																																																	0													168	165	166					5																	86682684		2203	4299	6502	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2889C>G	5.37:g.86682684C>G	ENSP00000274376:p.Asn963Lys		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.N963K	ENST00000274376.6	37	c.2889	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880560	0.72294	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.95	2.2	0.27929	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.989;0.994;0.994;0.997;0.995	T	0.37150	-0.9718	10	0.72032	D	0.01	.	9.5201	0.39129	0.0:0.7175:0.0:0.2825	.	797;796;797;786;963	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	K	963;786;796;797	ENSP00000274376:N963K;ENSP00000411221:N786K;ENSP00000422008:N796K;ENSP00000420905:N797K	ENSP00000274376:N963K	N	+	3	2	RASA1	86718440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.822000	0.27352	0.415000	0.25817	0.491000	0.48974	AAC	RASA1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.338	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86682684	1	no_errors	ENST00000274376	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86682684	C	G	86682684	3	3	128	1	0	0	0	0	1	0	0	0	13090	477	17	4	2991	4	RASA1	5	86682684	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		86682684	94232576	20	19809										
YIPF5	81555	genome.wustl.edu	37	chr5	143541826	143541826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctggaaagtaggatcatgggCagaagacaatatccaaggac	12	7	1	2	rs76530087	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:143541826C>T	ENST00000274496.5	-	5	701	c.567G>A	c.(565-567)ctG>ctA	p.L189L	YIPF5_ENST00000448443.2_Silent_p.L189L|YIPF5_ENST00000513112.1_Silent_p.L135L	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	189					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GGATCATGGGCAGAAGACAAT	0.373																																																	0													152	134	140					5																	143541826		2203	4300	6503	SO:0001819	synonymous_variant	81555			AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.567G>A	5.37:g.143541826C>T			D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Silent	SNP	pfam_Yip1	p.L189	ENST00000274496.5	37	c.567	CCDS4279.1	5																																																																																			YIPF5	-	pfam_Yip1		0.373	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF5	HGNC	protein_coding	OTTHUMT00000251882.1	C	NM_030799		143541826	-1	no_errors	ENST00000274496	ensembl	human	known	70_37	silent	SNP	0.993	T	T	143541826	C	T	143541826	2	4	128	1	0	0	0	0	0	0	0	1	17512	697	25	4		4	YIPF5	5	143541826	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	56859142	143541826	37373434	21	19810										
NSD1	64324	genome.wustl.edu	37	chr5	176637274	176637274	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	agtgaagctctgctatattgGagcaggtgatgaggaaaagc	14	5	1	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637274G>C	ENST00000439151.2	+	5	1919	c.1874G>C	c.(1873-1875)gGa>gCa	p.G625A	NSD1_ENST00000361032.4_Missense_Mutation_p.G522A|NSD1_ENST00000347982.4_Missense_Mutation_p.G356A|NSD1_ENST00000354179.4_Missense_Mutation_p.G356A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	625					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCTATATTGGAGCAGGTGAT	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													80	81	81					5																	176637274		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1874G>C	5.37:g.176637274G>C	ENSP00000395929:p.Gly625Ala		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.G625A	ENST00000439151.2	37	c.1874	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	9.305	1.053976	0.19907	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92348	-2.91;-2.91;-2.91;-3.02	5.42	4.55	0.56014	.	0.441905	0.21739	N	0.069857	T	0.82121	0.4968	N	0.14661	0.345	0.80722	D	1	B;B;B	0.20988	0.005;0.05;0.001	B;B;B	0.17722	0.008;0.019;0.004	T	0.74651	-0.3594	9	.	.	.	.	7.8647	0.29530	0.2224:0.0:0.7776:0.0	.	356;522;625	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	356;356;625;356;522	ENSP00000346111:G356A;ENSP00000395929:G625A;ENSP00000343209:G356A;ENSP00000354310:G522A	.	G	+	2	0	NSD1	176569880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.352000	0.34033	1.417000	0.47077	0.655000	0.94253	GGA	NSD1	-	NULL		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637274	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176637274	G	C	176637274	3	2	128	1	0	0	0	0	1	0	0	0	10693	1174	41	1	1888	1	NSD1	5	176637274	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	33095448	176637274	4277986	22	19811			1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637327	176637327	+	Missense_Mutation	SNP	G	G	A													0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ttagtatctgtaccacttctGatgatggaagcagtgacctg							TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637327G>A	ENST00000439151.2	+	5	1972	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	NSD1_ENST00000361032.4_Missense_Mutation_p.D540N|NSD1_ENST00000347982.4_Missense_Mutation_p.D374N|NSD1_ENST00000354179.4_Missense_Mutation_p.D374N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	643					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TACCACTTCTGATGATGGAAG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													113	109	110					5																	176637327		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1927G>A	5.37:g.176637327G>A	ENSP00000395929:p.Asp643Asn		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.D643N	ENST00000439151.2	37	c.1927	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016449	0.75161	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94966	-3.47;-3.47;-3.47;-3.57	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	D	0.94719	0.8296	L	0.27053	0.805	0.36644	D	0.877005	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.961;0.989	D	0.94907	0.8061	9	.	.	.	.	16.2996	0.82804	0.0:0.0:1.0:0.0	.	374;540;643	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	N	374;374;643;374;540	ENSP00000346111:D374N;ENSP00000395929:D643N;ENSP00000343209:D374N;ENSP00000354310:D540N	.	D	+	1	0	NSD1	176569933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.096000	0.71446	2.695000	0.91970	0.655000	0.94253	GAT	NSD1	-	NULL		0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637327	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176637327	G	A	176637327	3	1	128	1	0	0	0	0	1	0	0	0	10693	1290	45	1	1941	1	NSD1	5	176637327	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	53	176637327	4277933	23	19812	116	2	1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637330	176637330	+	Missense_Mutation	SNP	G	G	A													0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gtatctgtaccacttctgatGatggaagcagtgacctggat							TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637330G>A	ENST00000439151.2	+	5	1975	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N	NSD1_ENST00000361032.4_Missense_Mutation_p.D541N|NSD1_ENST00000347982.4_Missense_Mutation_p.D375N|NSD1_ENST00000354179.4_Missense_Mutation_p.D375N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	644					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CACTTCTGATGATGGAAGCAG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													113	109	110					5																	176637330		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1930G>A	5.37:g.176637330G>A	ENSP00000395929:p.Asp644Asn		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.D644N	ENST00000439151.2	37	c.1930	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852176	0.71719	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.15;-3.16;-3.15;-3.27	5.42	5.42	0.78866	.	0.173050	0.41194	D	0.000925	D	0.90597	0.7052	N	0.24115	0.695	0.34399	D	0.695024	P;P;P	0.51933	0.873;0.949;0.799	P;B;B	0.49047	0.599;0.415;0.395	D	0.92116	0.5700	9	.	.	.	.	16.2996	0.82804	0.0:0.0:1.0:0.0	.	375;541;644	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	N	375;375;644;375;541	ENSP00000346111:D375N;ENSP00000395929:D644N;ENSP00000343209:D375N;ENSP00000354310:D541N	.	D	+	1	0	NSD1	176569936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.769000	0.68865	2.695000	0.91970	0.655000	0.94253	GAT	NSD1	-	NULL		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637330	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176637330	G	A	176637330	3	1	128	1	0	0	0	0	1	0	0	0	10693	1290	45	1	1944	1	NSD1	5	176637330	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	3	176637330	4277930	24	19813	116	2	1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637417	176637417	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cagatgctttcgatagaacaGagaacatgttatctatgcag	9	7	1	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637417G>C	ENST00000439151.2	+	5	2062	c.2017G>C	c.(2017-2019)Gag>Cag	p.E673Q	NSD1_ENST00000361032.4_Missense_Mutation_p.E570Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E404Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E404Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	673					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGATAGAACAGAGAACATGTT	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													99	98	99					5																	176637417		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2017G>C	5.37:g.176637417G>C	ENSP00000395929:p.Glu673Gln		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E673Q	ENST00000439151.2	37	c.2017	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278899	0.59758	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94330	-3.3;-3.31;-3.3;-3.4	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000004	D	0.92251	0.7542	L	0.27053	0.805	0.26498	N	0.974812	D;D;D	0.63880	0.993;0.993;0.988	P;P;P	0.60789	0.879;0.879;0.76	D	0.85547	0.1219	9	.	.	.	.	11.2722	0.49147	0.0849:0.0:0.9151:0.0	.	404;570;673	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	404;404;673;404;570	ENSP00000346111:E404Q;ENSP00000395929:E673Q;ENSP00000343209:E404Q;ENSP00000354310:E570Q	.	E	+	1	0	NSD1	176570023	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.521000	0.53472	2.805000	0.96524	0.655000	0.94253	GAG	NSD1	-	NULL		0.393	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637417	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.993	C	C	176637417	G	C	176637417	3	2	128	1	0	0	0	0	1	0	0	0	10693	943	33	1	2031	1	NSD1	5	176637417	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	87	176637417	4277843	25	19814			1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637601	176637601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ggttaatctctctgatctgaAggcatctactcttgttcaca	7	10	6	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637601A>G	ENST00000439151.2	+	5	2246	c.2201A>G	c.(2200-2202)aAg>aGg	p.K734R	NSD1_ENST00000361032.4_Missense_Mutation_p.K631R|NSD1_ENST00000347982.4_Missense_Mutation_p.K465R|NSD1_ENST00000354179.4_Missense_Mutation_p.K465R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	734					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGATCTGAAGGCATCTACT	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													81	82	82					5																	176637601		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2201A>G	5.37:g.176637601A>G	ENSP00000395929:p.Lys734Arg		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.K734R	ENST00000439151.2	37	c.2201	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	A	3.925	-0.017388	0.07681	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93659	-3.15;-3.15;-3.15;-3.26	5.1	-0.412	0.12367	.	0.599214	0.16590	N	0.207787	D	0.86314	0.5903	N	0.24115	0.695	0.09310	N	1	B;B;B	0.34015	0.277;0.435;0.181	B;B;B	0.33042	0.157;0.153;0.075	T	0.73493	-0.3965	9	.	.	.	.	14.0205	0.64550	0.3927:0.6073:0.0:0.0	.	465;631;734	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	465;465;734;465;631	ENSP00000346111:K465R;ENSP00000395929:K734R;ENSP00000343209:K465R;ENSP00000354310:K631R	.	K	+	2	0	NSD1	176570207	0.959000	0.32827	0.069000	0.20011	0.003000	0.03518	1.626000	0.37039	-0.126000	0.11682	-0.331000	0.08364	AAG	NSD1	-	NULL		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	A	NM_172349		176637601	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.137	G	G	176637601	A	G	176637601	3	3	128	1	0	0	0	0	1	0	0	0	10693	72	3	5	2215	5	NSD1	5	176637601	Missense_Mutation	SNP	A	TCGA-FU-A2QG-01A-11D-A18J-09	184	176637601	4277659	26	19815			1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637740	176637740	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aatcaagctctattacattcGaaaagcaaacagcccaagtt	5	10	2	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637740G>C	ENST00000439151.2	+	5	2385	c.2340G>C	c.(2338-2340)tcG>tcC	p.S780S	NSD1_ENST00000361032.4_Silent_p.S677S|NSD1_ENST00000347982.4_Silent_p.S511S|NSD1_ENST00000354179.4_Silent_p.S511S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	780					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATTACATTCGAAAAGCAAAC	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													64	64	64					5																	176637740		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2340G>C	5.37:g.176637740G>C			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S780	ENST00000439151.2	37	c.2340	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637740	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.035	C	C	176637740	G	C	176637740	2	2	128	1	0	0	0	0	0	0	0	1	10693	1045	37	1		1	NSD1	5	176637740	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	139	176637740	4277520	27	19816			1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637930	176637930	+	Frame_Shift_Del	DEL	G	G	-													0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aactactgaacaatatgcatGagaaaaccagggattcaagt							TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637930delG	ENST00000439151.2	+	5	2575	c.2530delG	c.(2530-2532)gagfs	p.E844fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.E741fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E575fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E575fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	844					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAATATGCATGAGAAAACCAG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													114	113	113					5																	176637930		2203	4300	6503	SO:0001589	frameshift_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2530delG	5.37:g.176637930delG	ENSP00000395929:p.Glu844fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E844fs	ENST00000439151.2	37	c.2530	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637930	1	no_errors	ENST00000439151	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	176637930	G	-	176637930	7	5	128	1	0	1	0	1	0	0	0	0	10693	1291	45	0	2544	0	NSD1	5	176637930	Frame_Shift_Del	DEL	G	TCGA-FU-A2QG-01A-11D-A18J-09	190	176637930	4277330	28	19817	117	2	1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637932	176637932	+	Silent	SNP	G	G	A													0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctactgaacaatatgcatgaGaaaaccagggattcaagtga							TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637932G>A	ENST00000439151.2	+	5	2577	c.2532G>A	c.(2530-2532)gaG>gaA	p.E844E	NSD1_ENST00000361032.4_Silent_p.E741E|NSD1_ENST00000347982.4_Silent_p.E575E|NSD1_ENST00000354179.4_Silent_p.E575E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	844					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGCATGAGAAAACCAGGG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													116	115	115					5																	176637932		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2532G>A	5.37:g.176637932G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E844	ENST00000439151.2	37	c.2532	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637932	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	1.000	A	A	176637932	G	A	176637932	2	1	128	1	0	0	0	0	0	0	0	1	10693	933	33	1		1	NSD1	5	176637932	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	2	176637932	4277328	29	19818	117	2	1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176637992	176637992	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aaacatgttttatccgagttGaaggaactctcttacagatc	7	8	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637992G>A	ENST00000439151.2	+	5	2637	c.2592G>A	c.(2590-2592)ttG>ttA	p.L864L	NSD1_ENST00000361032.4_Silent_p.L761L|NSD1_ENST00000347982.4_Silent_p.L595L|NSD1_ENST00000354179.4_Silent_p.L595L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	864					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATCCGAGTTGAAGGAACTCT	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													146	141	142					5																	176637992		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2592G>A	5.37:g.176637992G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L864	ENST00000439151.2	37	c.2592	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637992	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	1.000	A	A	176637992	G	A	176637992	2	1	128	1	0	0	0	0	0	0	0	1	10693	1281	45	1		1	NSD1	5	176637992	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	60	176637992	4277268	30	19819			1	93		10	8	1025	N	G_A	5.86588e-22
NSD1	64324	genome.wustl.edu	37	chr5	176638298	176638298	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ggctccacacacaattcagaGaaaaagggagatggcactca	10	10	2	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176638298G>A	ENST00000439151.2	+	5	2943	c.2898G>A	c.(2896-2898)gaG>gaA	p.E966E	NSD1_ENST00000361032.4_Silent_p.E863E|NSD1_ENST00000347982.4_Silent_p.E697E|NSD1_ENST00000354179.4_Silent_p.E697E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	966					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACAATTCAGAGAAAAAGGGAG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													64	64	64					5																	176638298		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2898G>A	5.37:g.176638298G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E966	ENST00000439151.2	37	c.2898	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638298	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.998	A	A	176638298	G	A	176638298	2	1	128	1	0	0	0	0	0	0	0	1	10693	933	33	1		1	NSD1	5	176638298	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	306	176638298	4276962	31	19820			1	93		10	8	1025	N	G_A	5.86588e-22
HIST1H2AL	8332	genome.wustl.edu	37	chr6	27833221	27833221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tctccagttccccgtgggccGagtgcaccgactgctccgca	11	17	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:27833221G>C	ENST00000357320.2	+	1	188	c.89G>C	c.(88-90)cGa>cCa	p.R30P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCCGTGGGCCGAGTGCACCGA	0.672																																																	0													59	67	64					6																	27833221		2203	4300	6503	SO:0001583	missense	8332			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.89G>C	6.37:g.27833221G>C	ENSP00000349873:p.Arg30Pro		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30P	ENST00000357320.2	37	c.89	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259562	0.39995	.	.	ENSG00000198374	ENST00000357320	D	0.85339	-1.97	4.79	3.92	0.45320	.	0.000000	0.29609	U	0.011678	D	0.85401	0.5688	.	.	.	0.35415	D	0.792737	.	.	.	.	.	.	D	0.87274	0.2288	7	0.87932	D	0	.	12.307	0.54908	0.0827:0.0:0.9173:0.0	.	.	.	.	P	30	ENSP00000349873:R30P	ENSP00000349873:R30P	R	+	2	0	HIST1H2AL	27941200	1.000000	0.71417	0.861000	0.33841	0.007000	0.05969	7.329000	0.79170	1.147000	0.42369	0.655000	0.94253	CGA	HIST1H2AL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.672	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	G	NM_003511		27833221	1	no_errors	ENST00000357320	ensembl	human	known	70_37	missense	SNP	0.999	C	C	27833221	G	C	27833221	3	2	128	1	0	0	0	0	1	0	0	0	7158	1058	37	1	91	1	HIST1H2AL	6	27833221	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		27833221	143281846	32	19821										
OPN5	221391	genome.wustl.edu	37	chr6	47763151	47763151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccaggttttcatcctgaacaTcctcttcttctgcctcttgc	5	15	5	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:47763151T>C	ENST00000371211.2	+	4	636	c.608T>C	c.(607-609)aTc>aCc	p.I203T	OPN5_ENST00000393699.2_Missense_Mutation_p.I203T|OPN5_ENST00000489301.2_Missense_Mutation_p.I203T|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	203					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATCCTGAACATCCTCTTCTTC	0.552																																					Melanoma(28;740 973 10870 42660 45347)												0													117	103	107					6																	47763151		2203	4300	6503	SO:0001583	missense	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.608T>C	6.37:g.47763151T>C	ENSP00000360255:p.Ile203Thr		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.I203T	ENST00000371211.2	37	c.608	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371810	0.82573	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.38560	1.13;1.13;1.13	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.086001	0.85682	D	0.000000	T	0.29093	0.0723	L	0.39514	1.22	0.53688	D	0.999973	B	0.32283	0.362	B	0.36989	0.238	T	0.23762	-1.0179	10	0.87932	D	0	.	16.3351	0.83056	0.0:0.0:0.0:1.0	.	203	Q6U736	OPN5_HUMAN	T	203	ENSP00000426991:I203T;ENSP00000360255:I203T;ENSP00000377302:I203T	ENSP00000360255:I203T	I	+	2	0	OPN5	47871110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.262000	0.75019	0.528000	0.53228	ATC	OPN5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	T	NM_181744		47763151	1	no_errors	ENST00000371211	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47763151	T	C	47763151	3	2	128	1	0	0	0	0	1	0	0	0	10907	1435	50	5	622	5	OPN5	6	47763151	Missense_Mutation	SNP	T	TCGA-FU-A2QG-01A-11D-A18J-09	19929930	47763151	123351916	33	19822										
COL9A1	1297	genome.wustl.edu	37	chr6	71003986	71003986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cctgttgcagtcaacaaaaaGagtagcactactcctctcca	6	13	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:71003986G>C	ENST00000357250.6	-	5	738	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	COL9A1_ENST00000370496.3_Missense_Mutation_p.L194V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	194	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCAACAAAAAGAGTAGCACTA	0.443																																																	0													130	126	128					6																	71003986		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.580C>G	6.37:g.71003986G>C	ENSP00000349790:p.Leu194Val		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L194V	ENST00000357250.6	37	c.580	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486834	0.84854	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.06068	3.35;3.35	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.18509	0.0444	M	0.64567	1.98	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.00250	-1.1878	10	0.87932	D	0	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	194	P20849	CO9A1_HUMAN	V	194	ENSP00000349790:L194V;ENSP00000359527:L194V	ENSP00000349790:L194V	L	-	1	0	COL9A1	71060707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.293000	0.78740	2.890000	0.99128	0.650000	0.86243	CTT	COL9A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.443	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	G			71003986	-1	no_errors	ENST00000357250	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71003986	G	C	71003986	3	2	128	1	0	0	0	0	1	0	0	0	3712	942	33	1	2397	1	COL9A1	6	71003986	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	23240835	71003986	100111081	34	19823										
PTPRN2	5799	genome.wustl.edu	37	chr7	157387953	157387953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccaaaagtcagccacggtggCgggcagcggtccctgggtgg	17	12	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr7:157387953C>T	ENST00000389418.4	-	17	2482	c.2473G>A	c.(2473-2475)Gcc>Acc	p.A825T	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A808T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A796T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A848T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A787T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	825	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCACGGTGGCGGGCAGCGGT	0.502																																																	0													55	62	59					7																	157387953		2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2473G>A	7.37:g.157387953C>T	ENSP00000374069:p.Ala825Thr		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A848T	ENST00000389418.4	37	c.2542	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	6.145	0.395002	0.11638	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.51	3.7	0.42460	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.211550	0.41194	D	0.000930	T	0.04272	0.0118	N	0.02111	-0.68	0.32355	N	0.557981	B;B;B;P;B	0.38504	0.352;0.405;0.352;0.634;0.405	B;B;B;B;B	0.31101	0.028;0.047;0.028;0.124;0.047	T	0.20706	-1.0267	10	0.36615	T	0.2	.	9.1138	0.36744	0.2616:0.67:0.0:0.0684	.	848;787;796;808;825	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	787;796;808;825;848	ENSP00000387114:A787T;ENSP00000374064:A796T;ENSP00000374067:A808T;ENSP00000374069:A825T;ENSP00000385464:A848T	ENSP00000374064:A796T	A	-	1	0	PTPRN2	157080714	0.725000	0.28048	0.022000	0.16811	0.075000	0.17131	1.358000	0.34102	0.686000	0.31488	0.655000	0.94253	GCC	PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.502	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	C			157387953	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.581	T	T	157387953	C	T	157387953	3	4	128	1	0	0	0	0	1	0	0	0	12838	768	27	2	602	2	PTPRN2	7	157387953	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		157387953	1750710	35	19824										
PINX1	54984	genome.wustl.edu	37	chr8	10623045	10623045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cagggtgaagtcccggccctCaggcggctgcacatggtccc	14	15	1	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr8:10623045C>T	ENST00000314787.3	-	7	972	c.853G>A	c.(853-855)Gag>Aag	p.E285K	CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_3'UTR|PINX1_ENST00000519088.1_3'UTR	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	285	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCCCGGCCCTCAGGCGGCTGC	0.572																																																	0													51	51	51					8																	10623045		1865	4099	5964	SO:0001583	missense	54984			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"G patch domain containing"	30046	protein-coding gene	gene with protein product	"PIN2 interacting protein 1", "liver-related putative tumor suppressor"	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.853G>A	8.37:g.10623045C>T	ENSP00000318966:p.Glu285Lys		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E285K	ENST00000314787.3	37	c.853	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194167	0.38707	.	.	ENSG00000254093	ENST00000314787	T	0.18016	2.24	5.8	2.6	0.31112	.	1.388660	0.04272	N	0.342286	T	0.16041	0.0386	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.27191	-1.0081	10	0.59425	D	0.04	.	6.3998	0.21632	0.0:0.6609:0.1563:0.1829	.	285	Q96BK5	PINX1_HUMAN	K	285	ENSP00000318966:E285K	ENSP00000318966:E285K	E	-	1	0	PINX1	10660455	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.592000	0.23984	0.792000	0.33850	-0.136000	0.14681	GAG	PINX1	-	NULL		0.572	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINX1	HGNC	protein_coding	OTTHUMT00000375683.1	C	NM_017884		10623045	-1	no_errors	ENST00000314787	ensembl	human	known	70_37	missense	SNP	0.000	T	T	10623045	C	T	10623045	3	4	128	1	0	0	0	0	1	0	0	0	11957	835	29	1	137	1	PINX1	8	10623045	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		10623045	135740977	36	19825										
RUSC2	9853	genome.wustl.edu	37	chr9	35548154	35548154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ggagggtcacctcctttgccGagctggccaagggccggaag	16	12	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:35548154G>A	ENST00000455600.1	+	2	2205	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	546						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTTTGCCGAGCTGGCCAA	0.637																																																	0													16	19	18					9																	35548154		2199	4283	6482	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1636G>A	9.37:g.35548154G>A	ENSP00000393922:p.Glu546Lys		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.E546K	ENST00000455600.1	37	c.1636	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183989	0.78677	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.42513	0.97;0.97	5.86	4.95	0.65309	.	0.230112	0.37304	N	0.002156	T	0.47395	0.1443	L	0.34521	1.04	0.45330	D	0.998323	D	0.76494	0.999	P	0.55345	0.774	T	0.49844	-0.8896	10	0.62326	D	0.03	-16.1901	15.3486	0.74363	0.0:0.0:0.8595:0.1405	.	546	Q8N2Y8	RUSC2_HUMAN	K	546	ENSP00000355177:E546K;ENSP00000393922:E546K	ENSP00000355177:E546K	E	+	1	0	RUSC2	35538154	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.258000	0.95555	1.442000	0.47568	0.655000	0.94253	GAG	RUSC2	-	NULL		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35548154	1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35548154	G	A	35548154	3	1	128	1	0	0	0	0	1	0	0	0	13781	1059	37	1	1638	1	RUSC2	9	35548154	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		35548154	105665277	37	19826										
TRPM3	80036	genome.wustl.edu	37	chr9	73296452	73296452	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	agctgtcaggatagccaaatCaatgtcctggtgtccttctg	10	10	3	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:73296452C>T	ENST00000377111.2	-	9	1558	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	TRPM3_ENST00000408909.2_Missense_Mutation_p.D286N|TRPM3_ENST00000377110.3_Missense_Mutation_p.D439N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D286N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D441N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D466N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D311N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D311N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D311N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D286N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D286N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D311N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	464					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATAGCCAAATCAATGTCCTGG	0.383																																																	0													181	176	177					9																	73296452		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1315G>A	9.37:g.73296452C>T	ENSP00000366315:p.Asp439Asn		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D466N	ENST00000377111.2	37	c.1396		9	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863578	0.91511	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	M	0.88377	2.95	0.46678	D	0.999155	D;D;D;P;D;P;B;D;P	0.76494	0.987;0.993;0.992;0.546;0.994;0.756;0.376;0.999;0.643	P;D;D;B;P;P;B;D;B	0.70016	0.829;0.95;0.926;0.148;0.78;0.78;0.179;0.967;0.387	T	0.68550	-0.5379	10	0.87932	D	0	-21.4057	17.2915	0.87158	0.0:1.0:0.0:0.0	.	464;439;439;439;441;311;286;439;286	Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.	N	439;439;311;311;286;441;286;286;311;311;466	ENSP00000366315:D439N;ENSP00000366314:D439N;ENSP00000366310:D311N;ENSP00000354066:D311N;ENSP00000366309:D286N;ENSP00000350140:D441N;ENSP00000386127:D286N;ENSP00000379581:D286N;ENSP00000379587:D311N;ENSP00000350791:D311N;ENSP00000389542:D466N	ENSP00000350140:D441N	D	-	1	0	TRPM3	72486272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.792000	0.69052	2.817000	0.96982	0.563000	0.77884	GAT	TRPM3	-	NULL		0.383	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	C	NM_206945		73296452	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73296452	C	T	73296452	3	4	128	1	0	0	0	0	1	0	0	0	16618	826	29	1	3916	1	TRPM3	9	73296452	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	37748298	73296452	67916979	38	19827										
SPTLC1	10558	genome.wustl.edu	37	chr9	94821546	94821546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ataacttaatgtcactacggGatgcctgtaatcctttctga	7	9	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:94821546G>A	ENST00000262554.2	-	7	610	c.605C>T	c.(604-606)tCc>tTc	p.S202F	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	202					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GTCACTACGGGATGCCTGTAA	0.398																																																	0													104	92	96					9																	94821546		2203	4300	6503	SO:0001583	missense	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.605C>T	9.37:g.94821546G>A	ENSP00000262554:p.Ser202Phe		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S202F	ENST00000262554.2	37	c.605	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250363	0.80024	.	.	ENSG00000090054	ENST00000262554	D	0.95918	-3.85	5.41	5.41	0.78517	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.121832	0.64402	D	0.000019	D	0.98582	0.9526	H	0.97516	4.02	0.80722	D	1	P;P;P	0.46142	0.797;0.593;0.873	P;P;P	0.60117	0.867;0.548;0.869	D	0.99170	1.0864	10	0.87932	D	0	-15.8093	19.3941	0.94598	0.0:0.0:1.0:0.0	.	202;197;202	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	F	202	ENSP00000262554:S202F	ENSP00000262554:S202F	S	-	2	0	SPTLC1	93861367	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.383000	0.97214	2.822000	0.97130	0.557000	0.71058	TCC	SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.398	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	G	NM_006415		94821546	-1	no_errors	ENST00000262554	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94821546	G	A	94821546	3	1	128	1	0	0	0	0	1	0	0	0	15153	1174	41	1	852	1	SPTLC1	9	94821546	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	21525094	94821546	46391885	39	19828										
C8G	733	genome.wustl.edu	37	chr9	139840397	139840397	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccagggatgggatctgctggCaggtgcgccagctctatgga	16	10	2	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:139840397C>T	ENST00000224181.3	+	3	352	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	FBXW5_ENST00000325285.3_5'Flank|FBXW5_ENST00000483559.1_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	98					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		GATCTGCTGGCAGGTGCGCCA	0.682																																																	0													12	14	14					9																	139840397		2176	4265	6441	SO:0001587	stop_gained	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.292C>T	9.37:g.139840397C>T	ENSP00000224181:p.Gln98*		Q14CT8|Q14CU0|Q5SQ07	Nonsense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin	p.Q98*	ENST00000224181.3	37	c.292	CCDS7017.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632560	0.87660	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	.	.	.	4.79	0.0215	0.14129	.	0.945709	0.08852	N	0.884333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.4293	12.3777	0.55289	0.1115:0.3688:0.5197:0.0	.	.	.	.	X	98	.	ENSP00000224181:Q98X	Q	+	1	0	C8G	138960218	0.999000	0.42202	0.972000	0.41901	0.870000	0.49936	0.300000	0.19156	0.105000	0.17753	0.555000	0.69702	CAG	C8G	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.682	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C8G	HGNC	protein_coding	OTTHUMT00000055178.1	C			139840397	1	no_errors	ENST00000224181	ensembl	human	known	70_37	nonsense	SNP	0.330	T	T	139840397	C	T	139840397	4	4	128	1	0	0	0	0	0	1	0	0	2423	711	25	4	302	4	C8G	9	139840397	Nonsense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	45018851	139840397	1373034	40	19829										
EXD3	54932	genome.wustl.edu	37	chr9	140242526	140242526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cctccccgcaaactcacctcGgccgccctgcggtggtcttc	9	20	2	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:140242526G>A	ENST00000340951.4	-	17	2190	c.1995C>T	c.(1993-1995)gcC>gcT	p.A665A	EXD3_ENST00000342129.4_Silent_p.A316A	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AACTCACCTCGGCCGCCCTGC	0.642																																																	0													18	23	21					9																	140242526		2108	4211	6319	SO:0001819	synonymous_variant	54932				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1995C>T	9.37:g.140242526G>A			Q6P1M1|Q8IXT8	Silent	SNP	pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.A665	ENST00000340951.4	37	c.1995	CCDS48066.1	9																																																																																			EXD3	-	pfam_DUF82		0.642	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	G	NM_017820		140242526	-1	no_errors	ENST00000340951	ensembl	human	known	70_37	silent	SNP	0.886	A	A	140242526	G	A	140242526	2	1	128	1	0	0	0	0	0	0	0	1	5311	1103	39	2		2	EXD3	9	140242526	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	402129	140242526	970905	41	19830										
MKI67	4288	genome.wustl.edu	37	chr10	129913804	129913804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	agattttggtcttgacttacGcgagaccaacagttgggtct	11	8	2	3	rs149160550		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr10:129913804G>A	ENST00000368654.3	-	7	1243	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	290					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGACTTACGCGAGACCAAC	0.493																																																	0								G	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	86	90	89		,868	-6.6	0	10	dbSNP_134	89	0,8600		0,0,4300	no	intron,missense	MKI67	NM_001145966.1,NM_002417.4	,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,290/3257	129913804	1,13005	2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.868C>T	10.37:g.129913804G>A	ENSP00000357643:p.Arg290Cys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R290C	ENST00000368654.3	37	c.868	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	4.062	0.009294	0.07912	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.21191	2.02	3.29	-6.58	0.01836	.	3.730880	0.01095	N	0.005264	T	0.08044	0.0201	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.87932	D	0	.	4.4364	0.11552	0.1228:0.3638:0.4106:0.1027	.	290	P46013	KI67_HUMAN	C	290	ENSP00000357643:R290C	ENSP00000357643:R290C	R	-	1	0	MKI67	129803794	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.406000	0.02490	-2.635000	0.00432	-2.308000	0.00257	CGT	MKI67	-	NULL		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129913804	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	A	A	129913804	G	A	129913804	3	1	128	1	0	0	0	0	1	0	0	0	9621	1087	38	2	8938	2	MKI67	10	129913804	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		129913804	5620943	42	19831										
POLR2L	5441	genome.wustl.edu	37	chr11	842418	842418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccggcccgcgcctcacccctCggtgtactcggcctgcagca	11	20	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:842418C>G	ENST00000322028.4	-	1	127	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	TSPAN4_ENST00000397411.2_5'Flank|TSPAN4_ENST00000397408.1_5'Flank|TSPAN4_ENST00000397397.2_5'Flank|TSPAN4_ENST00000397406.1_5'Flank|TSPAN4_ENST00000525201.1_5'Flank|TSPAN4_ENST00000409543.2_5'Flank|TSPAN4_ENST00000397396.1_5'Flank|TSPAN4_ENST00000397404.1_5'Flank	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	31					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		cctcaccccTCGGTGTACTCG	0.731																																																	0													33	28	30					11																	842418		2190	4294	6484	SO:0001583	missense	5441			U37690	CCDS7720.1	11p15	2013-01-21	2002-08-29		ENSG00000177700	ENSG00000177700		"RNA polymerase subunits"	9199	protein-coding gene	gene with protein product		601189	"polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)"			8786124	Standard	NM_021128		Approved	RPB10beta, RBP10, RPABC5, RPB7.6, hRPB7.6, hsRPB10b	uc001lsc.3	P62875	OTTHUMG00000133316	ENST00000322028.4:c.91G>C	11.37:g.842418C>G	ENSP00000324124:p.Glu31Gln		P52436|Q6FHX3	Missense_Mutation	SNP	pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10	p.E31Q	ENST00000322028.4	37	c.91	CCDS7720.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215691	0.58452	.	.	ENSG00000177700	ENST00000322028	.	.	.	4.58	1.51	0.23008	Homeodomain-related (1);RNA polymerase subunit RPB10 (1);	0.185728	0.44902	D	0.000416	T	0.59878	0.2226	.	.	.	0.58432	D	0.999991	B	0.29886	0.26	B	0.40066	0.318	T	0.59516	-0.7440	8	0.62326	D	0.03	.	9.073	0.36504	0.0:0.6399:0.2807:0.0794	.	31	P62875	RPAB5_HUMAN	Q	31	.	ENSP00000324124:E31Q	E	-	1	0	POLR2L	832418	1.000000	0.71417	0.956000	0.39512	0.239000	0.25481	5.038000	0.64177	0.431000	0.26258	0.591000	0.81541	GAG	POLR2L	-	pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10		0.731	POLR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2L	HGNC	protein_coding	OTTHUMT00000257114.1	C	NM_021128		842418	-1	no_errors	ENST00000322028	ensembl	human	known	70_37	missense	SNP	0.989	G	G	842418	C	G	842418	3	3	128	1	0	0	0	0	1	0	0	0	12251	893	31	1	120	1	POLR2L	11	842418	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		842418	134164098	43	19832										
NUP98	4928	genome.wustl.edu	37	chr11	3781798	3781798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cgccactggttgtaccaaatGaaggtgcactggttgtgctg	13	9	0	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:3781798G>A	ENST00000324932.7	-	10	1565	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	NUP98_ENST00000397007.4_Missense_Mutation_p.S382L|NUP98_ENST00000355260.3_Missense_Mutation_p.S382L|NUP98_ENST00000359171.4_Missense_Mutation_p.S382L|NUP98_ENST00000397004.4_Missense_Mutation_p.S382L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	382	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTACCAAATGAAGGTGCACT	0.363			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													87	87	87					11																	3781798		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1145C>T	11.37:g.3781798G>A	ENSP00000316032:p.Ser382Leu		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.S382L	ENST00000324932.7	37	c.1145	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.898575|4.898575	0.91962|0.91962	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.064498	.|0.64402	.|D	.|0.000005	T|T	0.53626|0.53626	0.1808|0.1808	N|N	0.11870|0.11870	0.19|0.19	0.58432|0.58432	D|D	0.999994|0.999994	.|B;D;P;P	.|0.61080	.|0.386;0.989;0.926;0.814	.|B;D;P;B	.|0.72625	.|0.124;0.978;0.518;0.38	T|T	0.50499|0.50499	-0.8821|-0.8821	5|9	.|0.18276	.|T	.|0.48	.|.	16.4842|16.4842	0.84180|0.84180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;382;382;382	.|P52948-3;P52948-4;P52948-2;P52948-5	.|.;.;.;.	Y|L	31|382	.|.	.|ENSP00000316032:S382L	H|S	-|-	1|2	0|0	NUP98|NUP98	3738374|3738374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.897000|8.897000	0.92532|0.92532	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CAT|TCA	NUP98	-	NULL		0.363	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3781798	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3781798	G	A	3781798	3	1	128	1	0	0	0	0	1	0	0	0	10797	1294	45	1	4425	1	NUP98	11	3781798	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	2939380	3781798	131224718	44	19833										
PIK3C2A	5286	genome.wustl.edu	37	chr11	17191265	17191265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gatggacattctttaaatccGctgttgctagatatctgagc	9	8	2	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:17191265G>A	ENST00000265970.7	-	1	23	c.24C>T	c.(22-24)agC>agT	p.S8S	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	8	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTTTAAATCCGCTGTTGCTAG	0.393																																																	0													88	88	88					11																	17191265		2200	4293	6493	SO:0001819	synonymous_variant	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.24C>T	11.37:g.17191265G>A			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S8	ENST00000265970.7	37	c.24	CCDS7824.1	11																																																																																			PIK3C2A	-	NULL		0.393	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17191265	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17191265	G	A	17191265	2	1	128	1	0	0	0	0	0	0	0	1	11933	1078	38	2		2	PIK3C2A	11	17191265	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	13409467	17191265	117815251	45	19834										
RAG1	5896	genome.wustl.edu	37	chr11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aaagagagctacttcctggcCggacctcattgccaaggttt	10	11	1	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:36595309C>T	ENST00000299440.5	+	2	567	c.455C>T	c.(454-456)cCg>cTg	p.P152L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	152	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													77	73	74					11																	36595309		2202	4298	6500	SO:0001583	missense	5896	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.455C>T	11.37:g.36595309C>T	ENSP00000299440:p.Pro152Leu		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.P152L	ENST00000299440.5	37	c.455	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798720	0.90538	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73469	-0.75;-0.75	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:1.0:0.0:0.0	.	152	P15918	RAG1_HUMAN	L	152	ENSP00000434610:P152L;ENSP00000299440:P152L	ENSP00000299440:P152L	P	+	2	0	RAG1	36551885	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCG	RAG1	-	NULL		0.507	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	C	NM_000448		36595309	1	no_errors	ENST00000299440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36595309	C	T	36595309	3	4	128	1	0	0	0	0	1	0	0	0	13033	652	23	2	457	2	RAG1	11	36595309	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	19404044	36595309	98411207	46	19835										
LRP4	4038	genome.wustl.edu	37	chr11	46884233	46884233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tcacttcctgtgtggatgttCggtaggaggggttgctgtag	16	6	1	0	rs150211735		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:46884233C>T	ENST00000378623.1	-	37	5551	c.5309G>A	c.(5308-5310)cGa>cAa	p.R1770Q	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1770					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTGGATGTTCGGTAGGAGGG	0.423																																																	0								C	GLN/ARG	3,4399	6.2+/-15.9	0,3,2198	274	256	262		5309	5.6	1	11	dbSNP_134	262	0,8598		0,0,4299	yes	missense	LRP4	NM_002334.3	43	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	possibly-damaging	1770/1906	46884233	3,12997	2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5309G>A	11.37:g.46884233C>T	ENSP00000367888:p.Arg1770Gln		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R1770Q	ENST00000378623.1	37	c.5309	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.930182	0.97116	6.82E-4	0.0	ENSG00000134569	ENST00000378623	D	0.89875	-2.58	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	D	0.90283	0.6961	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	D	0.90224	0.4274	10	0.44086	T	0.13	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	1770	O75096	LRP4_HUMAN	Q	1770	ENSP00000367888:R1770Q	ENSP00000367888:R1770Q	R	-	2	0	LRP4	46840809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.461000	0.80834	2.664000	0.90586	0.655000	0.94253	CGA	LRP4	-	NULL		0.423	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	C	NM_002334		46884233	-1	no_errors	ENST00000378623	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46884233	C	T	46884233	3	4	128	1	0	0	0	0	1	0	0	0	8982	884	31	1	416	1	LRP4	11	46884233	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	10288924	46884233	88122283	47	19836										
GANAB	23193	genome.wustl.edu	37	chr11	62398095	62398095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tccgcctcttagaagccaagCgctcaagcatggtgcggggc	13	13	2	1	rs377690186		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:62398095C>T	ENST00000356638.3	-	11	1380	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	GANAB_ENST00000534779.1_Missense_Mutation_p.R363H|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Missense_Mutation_p.R358H|GANAB_ENST00000346178.4_Missense_Mutation_p.R477H	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	455					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGAAGCCAAGCGCTCAAGCAT	0.547																																					Melanoma(23;1005 1074 15747 18937)												0								C	HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	65	65	65		1364,1430	1.9	0.2	11		65	0,8598		0,0,4299	no	missense,missense	GANAB	NM_198334.1,NM_198335.2	29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	455/945,477/967	62398095	1,13001	2202	4299	6501	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1364G>A	11.37:g.62398095C>T	ENSP00000349053:p.Arg455His		A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.R477H	ENST00000356638.3	37	c.1430	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334866	0.24253	2.27E-4	0.0	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.44	1.9	0.25705	Glycoside hydrolase, superfamily (1);	0.666568	0.15967	N	0.235979	T	0.80954	0.4723	N	0.17594	0.5	0.09310	N	0.999998	B;B;B;B	0.10296	0.0;0.0;0.002;0.003	B;B;B;B	0.10450	0.001;0.001;0.003;0.005	T	0.67078	-0.5761	10	0.35671	T	0.21	-0.7405	8.4894	0.33091	0.0:0.2473:0.0:0.7527	.	341;363;455;477	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	H	477;455;363;358	ENSP00000340466:R477H;ENSP00000349053:R455H;ENSP00000435306:R363H;ENSP00000442962:R358H	ENSP00000340466:R477H	R	-	2	0	GANAB	62154671	0.000000	0.05858	0.193000	0.23327	0.896000	0.52359	-0.302000	0.08221	0.165000	0.19558	-1.074000	0.02243	CGC	GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	C	NM_198334		62398095	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	missense	SNP	0.351	T	T	62398095	C	T	62398095	3	4	128	1	0	0	0	0	1	0	0	0	6252	768	27	2	1526	2	GANAB	11	62398095	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	15513862	62398095	72608421	48	19837										
ANKRD13D	338692	genome.wustl.edu	37	chr11	67069645	67069645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccaggggcccaggatcccctCccaggacacccccagccccc	9	23	0	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:67069645C>T	ENST00000447274.2	+	15	2574	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.P204S|ANKRD13D_ENST00000504236.1_3'UTR|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.P554S|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.P467S|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.P467S			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	467						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGATCCCCTCCCAGGACACC	0.697																																																	0													16	19	18					11																	67069645		2177	4287	6464	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1399C>T	11.37:g.67069645C>T	ENSP00000402616:p.Pro467Ser		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.P554S	ENST00000447274.2	37	c.1660		11	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.959695	0.00465	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.42900	1.56;1.74;1.56;1.56;0.96	4.87	3.93	0.45458	.	1.142710	0.06529	N	0.741115	T	0.28167	0.0695	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.002;0.006;0.0	B;B;B	0.15870	0.008;0.014;0.002	T	0.09079	-1.0691	10	0.02654	T	1	0.3914	12.272	0.54712	0.0:0.8285:0.1715:0.0	.	204;554;467	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	S	467;554;467;467;204	ENSP00000402616:P467S;ENSP00000427130:P554S;ENSP00000310874:P467S;ENSP00000444404:P467S;ENSP00000443977:P204S	ENSP00000310874:P467S	P	+	1	0	ANKRD13D	66826221	0.001000	0.12720	0.005000	0.12908	0.053000	0.15095	1.369000	0.34227	1.247000	0.43917	0.561000	0.74099	CCC	ANKRD13D	-	NULL		0.697	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	C	NM_207354		67069645	1	no_errors	ENST00000511455	ensembl	human	known	70_37	missense	SNP	0.011	T	T	67069645	C	T	67069645	3	4	128	1	0	0	0	0	1	0	0	0	644	855	30	1	1718	1	ANKRD13D	11	67069645	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	4671550	67069645	67936871	49	19838										
MTL5	9633	genome.wustl.edu	37	chr11	68512505	68512505	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tgatactgaggaaccaaatgGagtgcttttagttctcttgt	10	6	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:68512505G>C	ENST00000255087.5	-	4	888	c.705C>G	c.(703-705)ctC>ctG	p.L235L	MTL5_ENST00000443940.2_Silent_p.L235L|MTL5_ENST00000540869.1_Intron|MTL5_ENST00000544963.1_Silent_p.L235L	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	235					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GAACCAAATGGAGTGCTTTTA	0.308																																																	0													144	139	140					11																	68512505		2200	4292	6492	SO:0001819	synonymous_variant	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.705C>G	11.37:g.68512505G>C			A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	pfam_CRC,superfamily_Thionin	p.L235	ENST00000255087.5	37	c.705	CCDS8184.1	11																																																																																			MTL5	-	superfamily_Thionin		0.308	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	G	NM_004923		68512505	-1	no_errors	ENST00000255087	ensembl	human	known	70_37	silent	SNP	0.814	C	C	68512505	G	C	68512505	2	2	128	1	0	0	0	0	0	0	0	1	9959	1161	41	1		1	MTL5	11	68512505	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	1442860	68512505	66494011	50	19839										
FOLR3	2352	genome.wustl.edu	37	chr11	71850074	71850074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ggagctgcacaaggacacctCccgcctgtacaactttaact	8	14	0	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:71850074C>T	ENST00000445078.2	+	3	429	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	FOLR3_ENST00000456237.1_Missense_Mutation_p.P122S|FOLR3_ENST00000442948.2_Missense_Mutation_p.S79F			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	92					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGGACACCTCCCGCCTGTAC	0.567																																																	0													43	48	46					11																	71850074		2200	4293	6493	SO:0001583	missense	2352			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.358C>T	11.37:g.71850074C>T	ENSP00000390338:p.Pro120Ser		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.P122S	ENST00000445078.2	37	c.364		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	9.372|9.372	1.070744|1.070744	0.20147|0.20147	.|.	.|.	ENSG00000110203|ENSG00000110203	ENST00000445078;ENST00000456237|ENST00000442948	T;T|T	0.73363|0.78595	-0.74;-0.49|-1.19	3.21|3.21	2.29|2.29	0.28610|0.28610	.|Folate receptor-like (1);	.|0.000000	.|0.64402	.|U	.|0.000005	D|D	0.84973|0.84973	0.5591|0.5591	.|.	.|.	.|.	0.48696|0.48696	D|D	0.999698|0.999698	P|D	0.45768|0.57257	0.866|0.979	P|D	0.45998|0.65573	0.5|0.936	D|D	0.84718|0.84718	0.0738|0.0738	8|9	0.41790|0.72032	T|D	0.15|0.01	.|.	9.5691|9.5691	0.39416|0.39416	0.0:0.8909:0.0:0.1091|0.0:0.8909:0.0:0.1091	.|.	122|77	E9PGT2|P41439	.|FOLR3_HUMAN	S|F	120;122|79	ENSP00000390338:P120S;ENSP00000399235:P122S|ENSP00000411161:S79F	ENSP00000390338:P120S|ENSP00000325032:S77F	P|S	+|+	1|2	0|0	FOLR3|FOLR3	71527722|71527722	1.000000|1.000000	0.71417|0.71417	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	5.888000|5.888000	0.69758|0.69758	0.688000|0.688000	0.31529|0.31529	-0.189000|-0.189000	0.12847|0.12847	CCC|TCC	FOLR3	-	NULL		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	C	NM_000804		71850074	1	no_errors	ENST00000456237	ensembl	human	known	70_37	missense	SNP	0.964	T	T	71850074	C	T	71850074	3	4	128	1	0	0	0	0	1	0	0	0	6001	855	30	1	242	1	FOLR3	11	71850074	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	3337569	71850074	63156442	51	19840										
ODZ4	26011	genome.wustl.edu	37	chr11	78381249	78381249	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gtgcaggtgaagccctcattCtgtaggttgatggtcttcag	13	8	4	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:78381249C>T	ENST00000278550.7	-	32	6603	c.6141G>A	c.(6139-6141)caG>caA	p.Q2047Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2047					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGCCCTCATTCTGTAGGTTGA	0.542																																																	0													77	87	83					11																	78381249		2101	4191	6292	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6141G>A	11.37:g.78381249C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q2047	ENST00000278550.7	37	c.6141	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78381249	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	1.000	T	T	78381249	C	T	78381249	2	4	128	1	0	0	0	0	0	0	0	1	10861	912	32	1		1	ODZ4	11	78381249	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	6531175	78381249	56625267	52	19841										
PLCZ1	89869	genome.wustl.edu	37	chr12	18836181	18836181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tatcattagctgttatctgaCgtaccaaacataaacaaaca	4	9	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:18836181C>T	ENST00000538330.1	-	11	1546	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PLCZ1_ENST00000447925.2_Missense_Mutation_p.V605I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.V414I|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.V607I|PLCZ1_ENST00000534932.1_Missense_Mutation_p.V88I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.V412I					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGTTATCTGACGTACCAAACA	0.338																																																	0													116	103	108					12																	18836181		2203	4300	6503	SO:0001583	missense	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1165G>A	12.37:g.18836181C>T	ENSP00000445880:p.Val389Ile			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V607I	ENST00000538330.1	37	c.1819		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.695|4.695	0.129227|0.129227	0.08981|0.08981	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000536023|ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	.|T;T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56;2.56	5.01|5.01	-7.45|-7.45	0.01374|0.01374	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.995174	.|0.08154	.|N	.|0.989463	T|T	0.03263|0.03263	0.0095|0.0095	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.24483	.|T	.|0.36	.|.	4.9148|4.9148	0.13840|0.13840	0.112:0.1914:0.1053:0.5912|0.112:0.1914:0.1053:0.5912	.|.	.|607;389	.|Q86YW0;Q8N7S5	.|PLCZ1_HUMAN;.	H|I	99|88;389;607;605;412;414	.|ENSP00000438826:V88I;ENSP00000445880:V389I;ENSP00000266505:V607I;ENSP00000402358:V605I;ENSP00000400504:V412I;ENSP00000445026:V414I	.|ENSP00000266505:V607I	R|V	-|-	2|1	0|0	PLCZ1|PLCZ1	18727448|18727448	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	-2.578000|-2.578000	0.00908|0.00908	-1.431000|-1.431000	0.01982|0.01982	-0.137000|-0.137000	0.14449|0.14449	CGT|GTC	PLCZ1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.338	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	C	NM_033123		18836181	-1	no_errors	ENST00000266505	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18836181	C	T	18836181	3	4	128	1	0	0	0	0	1	0	0	0	12068	536	19	2	11	2	PLCZ1	12	18836181	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		18836181	115015714	53	19842										
KRT6B	3854	genome.wustl.edu	37	chr12	52844261	52844261	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	agacgaccccgttcccccacGatgttgtccagctgcctcct	8	18	0	1	rs370270393		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:52844261G>A	ENST00000252252.3	-	2	731	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	228	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GTTCCCCCACGATGTTGTCCA	0.582																																																	0								G		0,4406		0,0,2203	198	185	189		684	1.8	0	12		189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6B	NM_005555.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		228/565	52844261	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.684C>T	12.37:g.52844261G>A			P48669	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I228	ENST00000252252.3	37	c.684	CCDS8828.1	12																																																																																			KRT6B	-	pfam_F		0.582	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	G	NM_005555		52844261	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	silent	SNP	0.001	A	A	52844261	G	A	52844261	2	1	128	1	0	0	0	0	0	0	0	1	8501	1048	37	1		1	KRT6B	12	52844261	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	34008080	52844261	81007634	54	19843										
KRT6B	3854	genome.wustl.edu	37	chr12	52845362	52845362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aacttgttgttgagggtcttGatctgctcacgctcctcggc	11	11	3	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:52845362G>C	ENST00000252252.3	-	1	548	c.501C>G	c.(499-501)atC>atG	p.I167M		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	167	Coil 1A.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGAGGGTCTTGATCTGCTCAC	0.587																																																	0													55	72	66					12																	52845362		2202	4278	6480	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.501C>G	12.37:g.52845362G>C	ENSP00000252252:p.Ile167Met		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I167M	ENST00000252252.3	37	c.501	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579057	0.46006	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87103	-2.21	3.28	3.28	0.37604	Filament (1);	0.000000	0.64402	D	0.000009	D	0.91446	0.7300	M	0.74467	2.265	0.40944	D	0.984491	D	0.65815	0.995	D	0.70016	0.967	D	0.91761	0.5420	10	0.72032	D	0.01	.	9.7405	0.40416	0.0992:0.0:0.9008:0.0	.	167	P04259	K2C6B_HUMAN	M	167	ENSP00000252252:I167M	ENSP00000252252:I167M	I	-	3	3	KRT6B	51131629	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	3.106000	0.50322	2.160000	0.67779	0.298000	0.19748	ATC	KRT6B	-	pfam_F,prints_Keratin_II		0.587	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	G	NM_005555		52845362	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52845362	G	C	52845362	3	2	128	1	0	0	0	0	1	0	0	0	8501	1280	45	1	1229	1	KRT6B	12	52845362	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	1101	52845362	81006533	55	19844										
CMKLR1	1240	genome.wustl.edu	37	chr12	108685872	108685872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	caggctgaagacagagccagGcatggcagtgtggtggagct	17	8	0	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:108685872G>A	ENST00000312143.7	-	3	1231	c.868C>T	c.(868-870)Cct>Tct	p.P290S	CMKLR1_ENST00000397688.2_Missense_Mutation_p.P288S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.P290S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.P290S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.P288S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	290					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.P288T(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACAGAGCCAGGCATGGCAGTG	0.532																																																	1	Substitution - Missense(1)	lung(1)											62	68	66					12																	108685872		2093	4229	6322	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.868C>T	12.37:g.108685872G>A	ENSP00000311733:p.Pro290Ser		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.P290S	ENST00000312143.7	37	c.868	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	1.872	-0.459916	0.04508	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.658399	0.15213	N	0.274400	T	0.71013	0.3290	L	0.52823	1.66	0.33725	D	0.617548	B	0.25904	0.137	B	0.34346	0.18	T	0.71649	-0.4529	10	0.21014	T	0.42	.	18.3233	0.90246	0.0:0.0:1.0:0.0	.	290	Q99788	CML1_HUMAN	S	290;290;288;288;290	ENSP00000311733:P290S;ENSP00000401293:P290S;ENSP00000380803:P288S;ENSP00000447579:P288S;ENSP00000449716:P290S	ENSP00000311733:P290S	P	-	1	0	CMKLR1	107210002	0.991000	0.36638	0.256000	0.24389	0.101000	0.19017	1.826000	0.39092	2.563000	0.86464	0.550000	0.68814	CCT	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_ATII_rcpt		0.532	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685872	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	0.668	A	A	108685872	G	A	108685872	3	1	128	1	0	0	0	0	1	0	0	0	3584	1203	42	4	257	4	CMKLR1	12	108685872	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	55840510	108685872	25166023	56	19845										
UBE3B	89910	genome.wustl.edu	37	chr12	109948163	109948163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccacagagaacgccaagggtGagaccttggagctgttccag	13	11	0	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:109948163G>A	ENST00000342494.3	+	17	2351	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	UBE3B_ENST00000280774.5_Missense_Mutation_p.E586K|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.E586K	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	586					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGCCAAGGGTGAGACCTTGGA	0.592																																																	0													52	42	45					12																	109948163		2203	4299	6502	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1756G>A	12.37:g.109948163G>A	ENSP00000340596:p.Glu586Lys		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E586K	ENST00000342494.3	37	c.1756	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118353	0.56505	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.44083	1.26;0.93;1.52;1.26	4.98	4.98	0.66077	.	0.164448	0.52532	D	0.000071	T	0.34395	0.0896	L	0.43152	1.355	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.17440	-1.0369	10	0.08179	T	0.78	-18.9067	16.8064	0.85706	0.0:0.0:1.0:0.0	.	586	Q7Z3V4	UBE3B_HUMAN	K	586;586;586;586;13	ENSP00000391529:E586K;ENSP00000280774:E586K;ENSP00000443131:E586K;ENSP00000340596:E586K	ENSP00000280774:E586K	E	+	1	0	UBE3B	108432546	1.000000	0.71417	0.972000	0.41901	0.877000	0.50540	9.132000	0.94455	2.298000	0.77334	0.462000	0.41574	GAG	UBE3B	-	NULL		0.592	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	G	NM_183415		109948163	1	no_errors	ENST00000342494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109948163	G	A	109948163	3	1	128	1	0	0	0	0	1	0	0	0	16911	1291	45	1	1814	1	UBE3B	12	109948163	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	1262291	109948163	23903732	57	19846										
DNAH10	196385	genome.wustl.edu	37	chr12	124256189	124256189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccgaatctctaggccaacctCtaaacagagaggatgaagaa	9	10	2	3	rs532577289		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:124256189C>T	ENST00000409039.3	+	3	182	c.157C>T	c.(157-159)Cta>Tta	p.L53L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	53	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGCCAACCTCTAAACAGAGA	0.423																																																	0													86	79	81					12																	124256189		1870	4095	5965	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.157C>T	12.37:g.124256189C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.L53	ENST00000409039.3	37	c.157	CCDS9255.2	12																																																																																			DNAH10	-	NULL		0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124256189	1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.000	T	T	124256189	C	T	124256189	2	4	128	1	0	0	0	0	0	0	0	1	4608	912	32	1		1	DNAH10	12	124256189	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	14308026	124256189	9595706	58	19847										
CPSF2	53981	genome.wustl.edu	37	chr14	92625343	92625343	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctaggtgaggttaaaagactCacttgtcagctctcttcagt	9	9	4	2	rs576542620		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr14:92625343C>G	ENST00000298875.4	+	14	2123	c.1838C>G	c.(1837-1839)tCa>tGa	p.S613*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	613					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTAAAAGACTCACTTGTCAGC	0.368																																					Ovarian(78;28 1788 18702 44111)												0													80	80	80					14																	92625343		2203	4300	6503	SO:0001587	stop_gained	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1838C>G	14.37:g.92625343C>G	ENSP00000298875:p.Ser613*		B3KME1|Q6NSJ1|Q9H3W7	Nonsense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S613*	ENST00000298875.4	37	c.1838	CCDS9902.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.011519|5.011519	0.93346|0.93346	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000555244|ENST00000298875	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77350|.	0.4117|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79701|.	-0.1693|.	3|.	.|0.59425	.|D	.|0.04	.|.	18.5219|18.5219	0.90956|0.90956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	130|613	.|.	.|ENSP00000298875:S613X	H|S	+|+	1|2	0|0	CPSF2|CPSF2	91695096|91695096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.702000|7.702000	0.84576|0.84576	2.369000|2.369000	0.80426|0.80426	0.313000|0.313000	0.20887|0.20887	CAC|TCA	CPSF2	-	NULL		0.368	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	C			92625343	1	no_errors	ENST00000298875	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	92625343	C	G	92625343	4	3	128	1	0	0	0	0	0	1	0	0	3830	838	29	1	1884	1	CPSF2	14	92625343	Nonsense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		92625343	14724197	59	19848										
RTF1	23168	genome.wustl.edu	37	chr15	41750013	41750014	+	Missense_Mutation	DNP	GA	GA	AT													0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cccgtctggaacagatgacaGagaaagagagagagcaagaa							TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:41750013_41750014GA>AT	ENST00000389629.4	+	4	613_614	c.601_602GA>AT	c.(601-603)GAg>ATg	p.E201M		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAGATGACAGAGAAAGAGAGA	0.515																																																	0																																										SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	Exception_encountered	15.37:g.41750013_41750014delinsAT	ENSP00000374280:p.Glu201Met		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.E201K|p.E201V	ENST00000389629.4	37	c.601|c.602	CCDS32200.2	15																																																																																			RTF1	-	NULL		0.515	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G|A	NM_015138		41750013|41750014	1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	1.000	A|T	AT	41750014	GA	AT	41750013	3	1	128	1	0	0	0	0	1	0	0	0	13751	943	33	1	615	1	RTF1	15	41750013	Missense_Mutation	DNP	GA	TCGA-FU-A2QG-01A-11D-A18J-09		41750013	60781379	60	19849										
RTF1	23168	genome.wustl.edu	37	chr15	41750066	41750066	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	atagagaagagggaggtgttGaaaagaaggtaaggttgtcc	16	2	0	4			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:41750066G>C	ENST00000389629.4	+	4	666	c.654G>C	c.(652-654)ttG>ttC	p.L218F		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	218	Glu-rich.|Lys-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGGAGGTGTTGAAAAGAAGGT	0.512																																																	0													140	137	138					15																	41750066		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.654G>C	15.37:g.41750066G>C	ENSP00000374280:p.Leu218Phe		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.L218F	ENST00000389629.4	37	c.654	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430851	0.62844	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.64404	1.975	0.54753	D	0.999983	D	0.71674	0.998	D	0.83275	0.996	T	0.58567	-0.7614	9	0.21014	T	0.42	-7.3839	1.1398	0.01762	0.2677:0.262:0.3325:0.1378	.	218	Q92541	RTF1_HUMAN	F	218	.	ENSP00000374280:L218F	L	+	3	2	RTF1	39537358	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.395000	0.20850	0.781000	0.33589	-0.136000	0.14681	TTG	RTF1	-	NULL		0.512	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G	NM_015138		41750066	1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	0.993	C	C	41750066	G	C	41750066	3	2	128	1	0	0	0	0	1	0	0	0	13751	1281	45	1	668	1	RTF1	15	41750066	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	53	41750066	60781326	61	19850										
TMEM87A	25963	genome.wustl.edu	37	chr15	42531874	42531874	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ataaagtcacttacaatcatCaagggatagtcttcaagtgt	7	7	5	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:42531874C>T	ENST00000389834.4	-	8	942	c.678G>A	c.(676-678)ttG>ttA	p.L226L	TMEM87A_ENST00000448392.1_Silent_p.L165L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	226						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TTACAATCATCAAGGGATAGT	0.363																																																	0													129	129	129					15																	42531874		2203	4299	6502	SO:0001819	synonymous_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.678G>A	15.37:g.42531874C>T			Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	pfam_TM_rcpt_euk	p.L226	ENST00000389834.4	37	c.678	CCDS32205.1	15																																																																																			TMEM87A	-	pfam_TM_rcpt_euk		0.363	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	C	NM_015497		42531874	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	silent	SNP	0.996	T	T	42531874	C	T	42531874	2	4	128	1	0	0	0	0	0	0	0	1	16240	825	29	1		1	TMEM87A	15	42531874	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	781808	42531874	59999518	62	19851			2	94		2	2	15	C		4.296228e-05
TMEM87A	25963	genome.wustl.edu	37	chr15	42531888	42531888	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aatcatcaagggatagtcttCaagtgtgaggtattcatagg	11	5	5	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:42531888C>A	ENST00000389834.4	-	8	928	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	TMEM87A_ENST00000448392.1_Nonsense_Mutation_p.E161*	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	222						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GGATAGTCTTCAAGTGTGAGG	0.358																																																	0													133	135	134					15																	42531888		2203	4299	6502	SO:0001587	stop_gained	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.664G>T	15.37:g.42531888C>A	ENSP00000374484:p.Glu222*		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Nonsense_Mutation	SNP	pfam_TM_rcpt_euk	p.E222*	ENST00000389834.4	37	c.664	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725803	0.69074	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.13	5.13	0.70059	.	0.054685	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-19.1646	18.7724	0.91898	0.0:1.0:0.0:0.0	.	.	.	.	X	222;161;198	.	ENSP00000374484:E222X	E	-	1	0	TMEM87A	40319180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.649000	0.89929	0.591000	0.81541	GAA	TMEM87A	-	pfam_TM_rcpt_euk		0.358	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	C	NM_015497		42531888	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	42531888	C	A	42531888	4	1	128	1	0	0	0	0	0	1	0	0	16240	835	29	3	1055	3	TMEM87A	15	42531888	Nonsense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	14	42531888	59999504	63	19852			2	94		2	2	15	C		4.296228e-05
TMEM87A	25963	genome.wustl.edu	37	chr15	42556395	42556395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ttccaaatacaactctacttCttctgcctggaaaaagagat	5	10	3	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:42556395C>T	ENST00000389834.4	-	4	562	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000448392.1_Missense_Mutation_p.E39K|TMEM87A_ENST00000307216.6_Missense_Mutation_p.E100K	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	100						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AACTCTACTTCTTCTGCCTGG	0.358																																																	0													119	118	118					15																	42556395		2203	4299	6502	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.298G>A	15.37:g.42556395C>T	ENSP00000374484:p.Glu100Lys		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.E100K	ENST00000389834.4	37	c.298	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858729	0.32884	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.12	4.17	0.49024	.	0.572250	0.18746	N	0.132318	T	0.27241	0.0668	N	0.19112	0.55	0.27785	N	0.943001	B;B;B	0.33171	0.001;0.002;0.4	B;B;B	0.31101	0.002;0.006;0.124	T	0.21075	-1.0256	9	0.62326	D	0.03	-6.52	10.6863	0.45846	0.0:0.7911:0.2089:0.0	.	100;39;100	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	K	100;39;76;100	.	ENSP00000305894:E100K	E	-	1	0	TMEM87A	40343687	0.593000	0.26840	0.963000	0.40424	0.180000	0.23129	0.764000	0.26532	2.646000	0.89796	0.655000	0.94253	GAA	TMEM87A	-	NULL		0.358	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	C	NM_015497		42556395	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	missense	SNP	0.989	T	T	42556395	C	T	42556395	3	4	128	1	0	0	0	0	1	0	0	0	16240	922	32	1	1483	1	TMEM87A	15	42556395	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	24507	42556395	59974997	64	19853										
TUBGCP4	27229	genome.wustl.edu	37	chr15	43695887	43695887	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tgtttcccgggtaggtgtttCactgcctgaatgaaatccta	10	9	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:43695887C>T	ENST00000260383.7	+	16	1995	c.1741C>T	c.(1741-1743)Cac>Tac	p.H581Y	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.H580Y|TUBGCP4_ENST00000399460.3_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	581					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTAGGTGTTTCACTGCCTGAA	0.473																																																	0													88	85	86					15																	43695887		1925	4138	6063	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1741C>T	15.37:g.43695887C>T	ENSP00000260383:p.His581Tyr		B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.H581Y	ENST00000260383.7	37	c.1741		15	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533287	0.64972	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.44542	1.39	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.17433	0.008;0.018	T	0.55147	-0.8186	9	0.51188	T	0.08	-21.5037	18.0387	0.89313	0.0:1.0:0.0:0.0	.	581;580	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	Y	580	.	ENSP00000260383:H580Y	H	+	1	0	TUBGCP4	41483179	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.776000	0.85560	2.575000	0.86900	0.591000	0.81541	CAC	TUBGCP4	-	NULL		0.473	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	C	NM_014444		43695887	1	no_errors	ENST00000260383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43695887	C	T	43695887	3	4	128	1	0	0	0	0	1	0	0	0	16799	826	29	1	1800	1	TUBGCP4	15	43695887	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	1139492	43695887	58835505	65	19854			3	95	1163999	2	2	18	C		5.216824e-05
TUBGCP4	27229	genome.wustl.edu	37	chr15	43695904	43695904	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tttcactgcctgaatgaaatCctagatctctgtcacagttt	6	10	3	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:43695904C>A	ENST00000260383.7	+	16	2012	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	TUBGCP4_ENST00000564079.1_Silent_p.I585I|TUBGCP4_ENST00000399460.3_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	586					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAATGAAATCCTAGATCTCT	0.498																																																	0													91	88	89					15																	43695904		1922	4134	6056	SO:0001819	synonymous_variant	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1758C>A	15.37:g.43695904C>A			B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_Spc97_Spc98	p.I586	ENST00000260383.7	37	c.1758		15																																																																																			TUBGCP4	-	NULL		0.498	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	C	NM_014444		43695904	1	no_errors	ENST00000260383	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43695904	C	A	43695904	2	1	128	1	0	0	0	0	0	0	0	1	16799	845	30	3		3	TUBGCP4	15	43695904	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	17	43695904	58835488	66	19855			3	95	1163999	2	2	18	C		5.216824e-05
WDR93	56964	genome.wustl.edu	37	chr15	90276274	90276274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gctgctcttcctcagggatgTttctgccaaagcattcactt	8	12	4	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:90276274T>C	ENST00000268130.7	+	13	1469	c.1368T>C	c.(1366-1368)tgT>tgC	p.C456C	WDR93_ENST00000560294.1_Intron|WDR93_ENST00000444934.2_Silent_p.C173C	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	456					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCAGGGATGTTTCTGCCAAA	0.483																																																	0													111	121	118					15																	90276274		2200	4299	6499	SO:0001819	synonymous_variant	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1368T>C	15.37:g.90276274T>C			Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.C456	ENST00000268130.7	37	c.1368	CCDS32326.1	15																																																																																			WDR93	-	superfamily_WD40_repeat_dom		0.483	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	T	NM_020212		90276274	1	no_errors	ENST00000268130	ensembl	human	known	70_37	silent	SNP	0.010	C	C	90276274	T	C	90276274	2	2	128	1	0	0	0	0	0	0	0	1	17371	1731	60	5		5	WDR93	15	90276274	Silent	SNP	T	TCGA-FU-A2QG-01A-11D-A18J-09	46580370	90276274	12255118	67	19856										
NARFL	64428	genome.wustl.edu	37	chr16	780560	780560	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	aggcgcgtcctcgggcgcctCagcccggaccatgccgtaca	13	17	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr16:780560C>T	ENST00000251588.2	-	11	1304	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	NARFL_ENST00000568545.1_Missense_Mutation_p.E328K|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000540986.1_Missense_Mutation_p.E328K	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	430					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)	p.E430K(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCGGGCGCCTCAGCCCGGACC	0.667																																																	1	Substitution - Missense(1)	lung(1)											55	56	55					16																	780560		2200	4294	6494	SO:0001583	missense	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1288G>A	16.37:g.780560C>T	ENSP00000251588:p.Glu430Lys		A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.E430K	ENST00000251588.2	37	c.1288	CCDS10425.1	16	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845671	0.16963	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.40756	1.02;1.02	4.94	1.67	0.24075	Iron hydrogenase, small subunit-like (2);Iron hydrogenase (1);	0.492356	0.23043	N	0.052597	T	0.37265	0.0997	L	0.48642	1.525	0.09310	N	0.999997	B	0.13594	0.008	B	0.15052	0.012	T	0.34825	-0.9813	10	0.56958	D	0.05	-17.0274	14.8124	0.70006	0.0:0.5385:0.4615:0.0	.	430	Q9H6Q4	NARFL_HUMAN	K	430;328	ENSP00000251588:E430K;ENSP00000444008:E328K	ENSP00000251588:E430K	E	-	1	0	NARFL	720561	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.224000	0.17738	0.083000	0.17047	0.436000	0.28706	GAG	NARFL	-	pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like		0.667	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		780560	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	missense	SNP	0.000	T	T	780560	C	T	780560	3	4	128	1	0	0	0	0	1	0	0	0	10191	835	29	1	146	1	NARFL	16	780560	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		780560	89574193	68	19857										
NARFL	64428	genome.wustl.edu	37	chr16	780648	780648	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tggagctggcccccgccgttCaggcagcctatgggagagca	15	13	1	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr16:780648C>T	ENST00000251588.2	-	11	1216	c.1200G>A	c.(1198-1200)ctG>ctA	p.L400L	NARFL_ENST00000568545.1_Silent_p.L298L|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000540986.1_Silent_p.L298L	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	400					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CCCCGCCGTTCAGGCAGCCTA	0.701																																																	0													20	24	22					16																	780648		2183	4263	6446	SO:0001819	synonymous_variant	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1200G>A	16.37:g.780648C>T			A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.L400	ENST00000251588.2	37	c.1200	CCDS10425.1	16																																																																																			NARFL	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase		0.701	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		780648	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	silent	SNP	0.886	T	T	780648	C	T	780648	2	4	128	1	0	0	0	0	0	0	0	1	10191	813	29	1		1	NARFL	16	780648	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	88	780648	89574105	69	19858										
MON1B	22879	genome.wustl.edu	37	chr16	77228297	77228297	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tggccatgtcacggacttctCagtcagcagcccagctgcgg	12	14	3	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr16:77228297C>T	ENST00000248248.3	+	4	891	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Nonsense_Mutation_p.Q35*|MON1B_ENST00000439557.2_Nonsense_Mutation_p.Q72*	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	181										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ACGGACTTCTCAGTCAGCAGC	0.597																																																	0													103	104	104					16																	77228297		2198	4300	6498	SO:0001587	stop_gained	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.541C>T	16.37:g.77228297C>T	ENSP00000248248:p.Gln181*		B4DDZ0|O94949	Nonsense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.Q181*	ENST00000248248.3	37	c.541	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.101825	0.98063	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.0379	0.71764	0.0:1.0:0.0:0.0	.	.	.	.	X	181;72;35	.	ENSP00000248248:Q181X	Q	+	1	0	MON1B	75785798	1.000000	0.71417	0.996000	0.52242	0.894000	0.52154	7.737000	0.84957	2.321000	0.78463	0.561000	0.74099	CAG	MON1B	-	pfam_Vacuolar_fusion_protein_MON1		0.597	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	HGNC	protein_coding	OTTHUMT00000269036.2	C	NM_014940		77228297	1	no_errors	ENST00000248248	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	77228297	C	T	77228297	4	4	128	1	0	0	0	0	0	1	0	0	9722	827	29	1	551	1	MON1B	16	77228297	Nonsense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	76447649	77228297	13126456	70	19859										
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2808623	2808623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gatgcgaccctcccagaccgGccgctctcccctcctctcac	7	22	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:2808623G>A	ENST00000254695.8	+	3	216	c.126G>A	c.(124-126)cgG>cgA	p.R42R	RAP1GAP2_ENST00000542807.1_Silent_p.R42R|RAP1GAP2_ENST00000540393.2_Silent_p.R23R|RAP1GAP2_ENST00000366401.4_Silent_p.R42R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	42					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCCAGACCGGCCGCTCTCCC	0.617																																																	0													30	35	34					17																	2808623		2002	4145	6147	SO:0001819	synonymous_variant	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.126G>A	17.37:g.2808623G>A			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	pfam_Rap_GAP,pfscan_Rap_GAP	p.R42	ENST00000254695.8	37	c.126	CCDS45573.1	17																																																																																			RAP1GAP2	-	NULL		0.617	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	G			2808623	1	no_errors	ENST00000542807	ensembl	human	known	70_37	silent	SNP	0.999	A	A	2808623	G	A	2808623	2	1	128	1	0	0	0	0	0	0	0	1	13068	1190	42	4		4	RAP1GAP2	17	2808623	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		2808623	78386587	71	19860										
ASGR1	432	genome.wustl.edu	37	chr17	7077286	7077286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gggcgcgcactcacttgaagCccgtctcgtagtccgtcccg	12	16	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:7077286C>A	ENST00000269299.3	-	8	1094	c.695G>T	c.(694-696)gGc>gTc	p.G232V	ASGR1_ENST00000380920.4_Missense_Mutation_p.G131V|ASGR1_ENST00000572879.1_Missense_Mutation_p.G92V|ASGR1_ENST00000574388.1_Missense_Mutation_p.G193V	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	232	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTTGAAGCCCGTCTCGTA	0.672																																																	0													109	98	102					17																	7077286		2203	4300	6503	SO:0001583	missense	432				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"C-type lectin domain containing"	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.695G>T	17.37:g.7077286C>A	ENSP00000269299:p.Gly232Val		I3L1X1	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G232V	ENST00000269299.3	37	c.695	CCDS11089.1	17	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462449	0.63513	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.16897	2.31	4.2	4.2	0.49525	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.248229	0.29009	N	0.013426	T	0.37999	0.1024	M	0.72576	2.205	0.50171	D	0.999857	D	0.89917	1.0	D	0.85130	0.997	T	0.09292	-1.0681	10	0.72032	D	0.01	.	10.4206	0.44348	0.0:0.8018:0.1982:0.0	.	232	P07306	ASGR1_HUMAN	V	232;193	ENSP00000269299:G232V	ENSP00000269299:G232V	G	-	2	0	ASGR1	7018010	0.953000	0.32496	0.998000	0.56505	0.957000	0.61999	1.797000	0.38804	2.646000	0.89796	0.537000	0.68136	GGC	ASGR1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.672	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASGR1	HGNC	protein_coding	OTTHUMT00000220004.3	C	NM_001671		7077286	-1	no_errors	ENST00000269299	ensembl	human	known	70_37	missense	SNP	0.995	A	A	7077286	C	A	7077286	3	1	128	1	0	0	0	0	1	0	0	0	1040	739	26	4	188	4	ASGR1	17	7077286	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	4268663	7077286	74117924	72	19861										
PLSCR3	100529211	genome.wustl.edu	37	chr17	7296132	7296132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	caaagttggtgtctgtgccaCagccacaggtccagcagggc	13	12	1	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:7296132C>T	ENST00000576362.1	-	5	732	c.575G>A	c.(574-576)tGt>tAt	p.C192Y	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.C216Y|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.C216Y|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.C216Y|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.C216Y					TMEM256-PLSCR3 readthrough (NMD candidate)																		GTCTGTGCCACAGCCACAGGT	0.532																																																	0													152	168	163					17																	7296132		2061	4199	6260	SO:0001583	missense	57048					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.575G>A	17.37:g.7296132C>T	ENSP00000460800:p.Cys192Tyr			Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.C216Y	ENST00000576362.1	37	c.647		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.866372|4.866372	0.91511|0.91511	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.25085|.	1.82;1.82|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79488|0.79488	0.4454|0.4454	M|M	0.82433|0.82433	2.59|2.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.82398|0.82398	-0.0477|-0.0477	10|6	0.87932|0.87932	D|D	0|0	-9.8986|-9.8986	17.0686|17.0686	0.86567|0.86567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	216;271|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	Y|M	216|216	ENSP00000438547:C216Y;ENSP00000316021:C216Y|.	ENSP00000316021:C216Y|ENSP00000370033:V216M	C|V	-|-	2|1	0|0	PLSCR3|PLSCR3	7236856|7236856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.137000|7.137000	0.77295|0.77295	2.634000|2.634000	0.89283|0.89283	0.591000|0.591000	0.81541|0.81541	TGT|GTG	PLSCR3	-	pfam_Scramblase,superfamily_Tubby_C-like		0.532	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	PLSCR3	HGNC	protein_coding	OTTHUMT00000440808.1	C			7296132	-1	no_errors	ENST00000324822	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7296132	C	T	7296132	3	4	128	1	0	0	0	0	1	0	0	0	12135	478	17	4	252	4	PLSCR3	17	7296132	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	218846	7296132	73899078	73	19862										
MAP2K3	5606	genome.wustl.edu	37	chr17	21201725	21201725	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tcaccttctctccattctagGaaaatccaagaggaagaagg	8	10	3	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:21201725G>C	ENST00000342679.4	+	2	299	c.50G>C	c.(49-51)gGa>gCa	p.G17A	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	17					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCATTCTAGGAAAATCCAAG	0.577																																																	0													223	225	224					17																	21201725		2203	4300	6503	SO:0001630	splice_region_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.50-1G>C	17.37:g.21201725G>C			B3KSK7|Q99441|Q9UE71|Q9UE72	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.G17A	ENST00000342679.4	37	c.50	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942685	0.34283	.	.	ENSG00000034152	ENST00000342679;ENST00000316920	T	0.71698	-0.59	5.43	3.39	0.38822	.	0.275476	0.28996	N	0.013476	T	0.45013	0.1321	N	0.24115	0.695	0.80722	D	1	P	0.40578	0.722	B	0.21151	0.033	T	0.33189	-0.9878	10	0.25751	T	0.34	-6.9881	8.4887	0.33086	0.083:0.1546:0.7624:0.0	.	17	P46734	MP2K3_HUMAN	A	17;21	ENSP00000345083:G17A	ENSP00000319139:G21A	G	+	2	0	MAP2K3	21142318	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	1.487000	0.35540	0.749000	0.32854	0.655000	0.94253	GGA	MAP2K3	-	NULL		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	G	NM_145109	Missense_Mutation	21201725	1	no_errors	ENST00000342679	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21201725	G	C	21201725	5	2	128	1	0	0	0	0	0	0	1	0	9261	1188	41	1	56	1	MAP2K3	17	21201725	Splice_Site	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	13905593	21201725	59993485	74	19863										
TLK2	11011	genome.wustl.edu	37	chr17	60683572	60683572	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gatgtgtggtcggtgggtgtGatcttctatcagtgtcttta	14	5	4	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:60683572G>T	ENST00000326270.9	+	21	2275	c.2007G>T	c.(2005-2007)gtG>gtT	p.V669V	TLK2_ENST00000542523.1_Silent_p.V615V|TLK2_ENST00000582809.1_Silent_p.V498V|TLK2_ENST00000346027.5_Silent_p.V647V|TLK2_ENST00000343388.7_Silent_p.V615V	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CGGTGGGTGTGATCTTCTATC	0.428																																																	0													138	122	127					17																	60683572		2203	4300	6503	SO:0001819	synonymous_variant	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2007G>T	17.37:g.60683572G>T			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V669	ENST00000326270.9	37	c.2007		17																																																																																			TLK2	-	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		0.428	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	G	NM_006852		60683572	1	no_errors	ENST00000326270	ensembl	human	known	70_37	silent	SNP	1.000	T	T	60683572	G	T	60683572	2	4	128	1	0	0	0	0	0	0	0	1	15974	1277	45	3		3	TLK2	17	60683572	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	39481847	60683572	20511638	75	19864										
TANC2	26115	genome.wustl.edu	37	chr17	61432444	61432444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tagttcctgtttcgctctcaGaggtttatttactccagtgc	8	10	1	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:61432444G>A	ENST00000424789.2	+	12	2057	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	TANC2_ENST00000389520.4_Missense_Mutation_p.E685K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	685					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCGCTCTCAGAGGTTTATTT	0.453																																																	0													109	103	105					17																	61432444		1889	4122	6011	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2053G>A	17.37:g.61432444G>A	ENSP00000387593:p.Glu685Lys		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E685K	ENST00000424789.2	37	c.2053	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017752	0.93404	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68903	-0.36;-0.36	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.91635	0.969;0.999;0.998	T	0.83068	-0.0144	10	0.72032	D	0.01	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	685;595;685	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	K	685	ENSP00000374171:E685K;ENSP00000387593:E685K	ENSP00000374171:E685K	E	+	1	0	TANC2	58786176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.827000	0.99397	2.709000	0.92574	0.655000	0.94253	GAG	TANC2	-	NULL		0.453	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61432444	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61432444	G	A	61432444	3	1	128	1	0	0	0	0	1	0	0	0	15575	943	33	1	2099	1	TANC2	17	61432444	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	748872	61432444	19762766	76	19865										
BPTF	2186	genome.wustl.edu	37	chr17	65907170	65907170	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ttacaaaaagaaaacaaaatCatccaaactagatggacttc	4	8	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:65907170C>A	ENST00000321892.4	+	13	3609	c.3548C>A	c.(3547-3549)tCa>tAa	p.S1183*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.S1183*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.S1057*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.S1044*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1183					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAACAAAATCATCCAAACTA	0.368																																																	0													67	67	67					17																	65907170		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3548C>A	17.37:g.65907170C>A	ENSP00000315454:p.Ser1183*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1183*	ENST00000321892.4	37	c.3548		17	.	.	.	.	.	.	.	.	.	.	C	41	8.894610	0.98994	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2706	19.8184	0.96581	0.0:1.0:0.0:0.0	.	.	.	.	X	1057;1183;1183	.	ENSP00000307208:S1057X	S	+	2	0	BPTF	63337632	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	5.825000	0.69286	2.761000	0.94854	0.650000	0.86243	TCA	BPTF	-	NULL		0.368	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65907170	1	no_errors	ENST00000321892	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	65907170	C	A	65907170	4	1	128	1	0	0	0	0	0	1	0	0	1498	838	29	3	3598	3	BPTF	17	65907170	Nonsense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	4474726	65907170	15288040	77	19866										
ZNF24	7572	genome.wustl.edu	37	chr18	32920460	32920460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	caaactgcctgaatcgctgtCggaaaatctctgggtctggg	12	10	2	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr18:32920460C>T	ENST00000261332.6	-	2	334	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	ZNF24_ENST00000589881.1_Missense_Mutation_p.R52Q|ZNF24_ENST00000399061.3_Missense_Mutation_p.R52Q	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GAATCGCTGTCGGAAAATCTC	0.547																																					Colon(42;769 913 8916 19469 46270)												0													74	73	74					18																	32920460		2203	4300	6503	SO:0001583	missense	7572			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.155G>A	18.37:g.32920460C>T	ENSP00000261332:p.Arg52Gln		O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R52Q	ENST00000261332.6	37	c.155	CCDS11912.1	18	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988897	0.74589	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.07908	3.15;3.15	4.19	3.3	0.37823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37669	N	0.001991	T	0.32704	0.0838	M	0.90082	3.085	0.34023	D	0.652928	D;D	0.89917	1.0;0.991	D;B	0.79108	0.992;0.38	T	0.56613	-0.7950	10	0.87932	D	0	.	11.349	0.49577	0.1826:0.8174:0.0:0.0	.	52;52	P17028-2;P17028	.;ZNF24_HUMAN	Q	52	ENSP00000261332:R52Q;ENSP00000382015:R52Q	ENSP00000261332:R52Q	R	-	2	0	ZNF24	31174458	1.000000	0.71417	0.950000	0.38849	0.974000	0.67602	2.633000	0.46519	1.101000	0.41535	0.655000	0.94253	CGA	ZNF24	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.547	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1	C	NM_006965		32920460	-1	no_errors	ENST00000261332	ensembl	human	known	70_37	missense	SNP	0.908	T	T	32920460	C	T	32920460	3	4	128	1	0	0	0	0	1	0	0	0	17822	884	31	1	963	1	ZNF24	18	32920460	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		32920460	45156788	78	19867										
POLR2E	5434	genome.wustl.edu	37	chr19	1093961	1093961	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ttgtgggccaccagcacggtGaggtccgtgcgccgcggccg	17	14	0	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:1093961G>T	ENST00000215587.7	-	2	457	c.174C>A	c.(172-174)ctC>ctA	p.L58L	POLR2E_ENST00000585838.1_5'Flank|POLR2E_ENST00000586746.1_Silent_p.L58L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	58					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACGGTGAGGTCCGTGC	0.637																																																	0													40	35	37					19																	1093961		2203	4300	6503	SO:0001819	synonymous_variant	5434				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.174C>A	19.37:g.1093961G>T			B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su	p.L58	ENST00000215587.7	37	c.174	CCDS12056.1	19																																																																																			POLR2E	-	pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su		0.637	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2E	HGNC	protein_coding	OTTHUMT00000458044.1	G	NM_002695		1093961	-1	no_errors	ENST00000215587	ensembl	human	known	70_37	silent	SNP	0.986	T	T	1093961	G	T	1093961	2	4	128	1	0	0	0	0	0	0	0	1	12242	1277	45	3		3	POLR2E	19	1093961	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		1093961	58035022	79	19868										
C19orf26	255057	genome.wustl.edu	37	chr19	1233483	1233483	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	agcttccacttcttgaccttGaaataggggctggccccatc	9	13	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:1233483G>C	ENST00000382477.2	-	8	1255	c.981C>G	c.(979-981)ttC>ttG	p.F327L	C19orf26_ENST00000215376.6_Missense_Mutation_p.F301L|C19orf26_ENST00000590083.1_Missense_Mutation_p.F307L			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	327						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGACCTTGAAATAGGGGC	0.682										HNSCC(14;0.022)																																							0													16	15	16					19																	1233483		2172	4288	6460	SO:0001583	missense	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.981C>G	19.37:g.1233483G>C	ENSP00000371917:p.Phe327Leu		O43385	Missense_Mutation	SNP	NULL	p.F327L	ENST00000382477.2	37	c.981		19	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671821	0.67928	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.28454	1.61;1.61	4.19	4.19	0.49359	.	0.063966	0.64402	D	0.000006	T	0.28466	0.0704	L	0.52759	1.655	0.46981	D	0.999277	P	0.41393	0.748	B	0.40101	0.319	T	0.04481	-1.0948	10	0.44086	T	0.13	.	10.9292	0.47207	0.0:0.0:0.8121:0.1879	.	301	Q8N350-2	.	L	327;301	ENSP00000371917:F327L;ENSP00000215376:F301L	ENSP00000215376:F301L	F	-	3	2	C19orf26	1184483	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.967000	0.40491	2.329000	0.79093	0.511000	0.50034	TTC	C19orf26	-	NULL		0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	C19orf26	HGNC	protein_coding		G	NM_152769		1233483	-1	no_errors	ENST00000382477	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1233483	G	C	1233483	3	2	128	1	0	0	0	0	1	0	0	0	1921	1281	45	1	448	1	C19orf26	19	1233483	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	139522	1233483	57895500	80	19869										
DOT1L	84444	genome.wustl.edu	37	chr19	2225393	2225393	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ttttttcttaacagaattgaGagaaaaattgcaacaatctc	5	6	2	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:2225393G>C	ENST00000398665.3	+	26	3639	c.3603G>C	c.(3601-3603)gaG>gaC	p.E1201D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1201					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAATTGAGAGAAAAATTG	0.458																																																	0													102	99	100					19																	2225393		1933	4138	6071	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3603G>C	19.37:g.2225393G>C	ENSP00000381657:p.Glu1201Asp		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.E1201D	ENST00000398665.3	37	c.3603	CCDS42460.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.637387|2.637387	0.47049|0.47049	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590|ENST00000440640	T;T|.	0.52754|.	0.85;0.65|.	4.9|4.9	1.31|1.31	0.21738|0.21738	.|.	0.232564|.	0.42294|.	D|.	0.000732|.	T|T	0.56307|0.56307	0.1976|0.1976	M|M	0.65498|0.65498	2.005|2.005	0.31811|0.31811	N|N	0.627083|0.627083	D;P|.	0.76494|.	0.999;0.493|.	D;B|.	0.76071|.	0.987;0.167|.	T|T	0.60924|0.60924	-0.7166|-0.7166	10|5	0.87932|.	D|.	0|.	-14.4349|-14.4349	9.0888|9.0888	0.36598|0.36598	0.3247:0.0:0.6753:0.0|0.3247:0.0:0.6753:0.0	.|.	1201;1201|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	D|T	1201;1201;81|988	ENSP00000381657:E1201D;ENSP00000407411:E81D|.	ENSP00000221482:E1201D|.	E|R	+|+	3|2	2|0	DOT1L|DOT1L	2176393|2176393	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	0.561000|0.561000	0.23515|0.23515	0.493000|0.493000	0.27837|0.27837	0.555000|0.555000	0.69702|0.69702	GAG|AGA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.458	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2225393	1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2225393	G	C	2225393	3	2	128	1	0	0	0	0	1	0	0	0	4719	933	33	1	3705	1	DOT1L	19	2225393	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	991910	2225393	56903590	81	19870										
MUC16	94025	genome.wustl.edu	37	chr19	9049262	9049262	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ccattgaggtcaccaaccgtGatacagcaggcgagatagtt	11	10	1	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:9049262G>A	ENST00000397910.4	-	5	32572	c.32369C>T	c.(32368-32370)tCa>tTa	p.S10790L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10792	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAACCGTGATACAGCAGG	0.488																																																	0													159	144	149					19																	9049262		1978	4161	6139	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32369C>T	19.37:g.9049262G>A	ENSP00000381008:p.Ser10790Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S10790L	ENST00000397910.4	37	c.32369	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.857	0.725244	0.15439	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.81	1.66	0.24008	.	.	.	.	.	T	0.02767	0.0083	N	0.24115	0.695	.	.	.	P	0.39809	0.689	B	0.41236	0.351	T	0.35226	-0.9797	8	0.87932	D	0	.	7.2903	0.26362	0.0:0.0:0.7106:0.2894	.	10790	B5ME49	.	L	10790	ENSP00000381008:S10790L	ENSP00000381008:S10790L	S	-	2	0	MUC16	8910262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.118000	0.15605	0.646000	0.30693	0.473000	0.43528	TCA	MUC16	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9049262	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9049262	G	A	9049262	3	1	128	1	0	0	0	0	1	0	0	0	9996	1294	45	1	11474	1	MUC16	19	9049262	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	6823869	9049262	50079721	82	19871										
ZNF559	84527	genome.wustl.edu	37	chr19	9449914	9449914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctgtggacttcacccaggagGagtggactttgctggatcaa	13	9	2	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:9449914G>A	ENST00000393883.2	+	4	727	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ZNF559_ENST00000585352.1_Missense_Mutation_p.E27K|ZNF559_ENST00000603380.1_Missense_Mutation_p.E27K|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.E27K|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.E27K|ZNF559_ENST00000586255.1_Missense_Mutation_p.E55K|ZNF559_ENST00000587557.1_Missense_Mutation_p.E91K|ZNF559_ENST00000592896.1_Missense_Mutation_p.E55K	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CACCCAGGAGGAGTGGACTTT	0.468																																																	0													206	177	187					19																	9449914		2203	4300	6503	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.79G>A	19.37:g.9449914G>A	ENSP00000377461:p.Glu27Lys		K7EMG6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E27K	ENST00000393883.2	37	c.79	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762061	0.49468	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.12255	2.7;2.7	2.32	0.134	0.14771	Krueppel-associated box (4);	.	.	.	.	T	0.43964	0.1271	H	0.98027	4.13	0.20638	N	0.999879	D	0.59357	0.985	P	0.61132	0.884	T	0.24799	-1.0150	9	0.56958	D	0.05	.	6.3138	0.21178	0.2803:0.0:0.7197:0.0	.	27	Q9BR84	ZN559_HUMAN	K	27	ENSP00000325393:E27K;ENSP00000377461:E27K	ENSP00000325393:E27K	E	+	1	0	ZNF559	9310914	0.991000	0.36638	0.008000	0.14137	0.925000	0.55904	1.946000	0.40283	0.101000	0.17610	0.313000	0.20887	GAG	ZNF559	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	G	NM_032497		9449914	1	no_errors	ENST00000393883	ensembl	human	known	70_37	missense	SNP	0.150	A	A	9449914	G	A	9449914	3	1	128	1	0	0	0	0	1	0	0	0	18020	1175	41	1	85	1	ZNF559	19	9449914	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	400652	9449914	49679069	83	19872										
ZNF260	339324	genome.wustl.edu	37	chr19	37004907	37004907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cattcatagagaactttaatGagtatgaattctctggtgtc	8	6	2	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:37004907G>C	ENST00000523638.1	-	3	2355	c.1234C>G	c.(1234-1236)Cat>Gat	p.H412D	ZNF260_ENST00000592282.1_Missense_Mutation_p.H412D|ZNF260_ENST00000593142.1_Missense_Mutation_p.H412D|ZNF260_ENST00000588993.1_Missense_Mutation_p.H412D	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	412					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GAACTTTAATGAGTATGAATT	0.343																																																	0													63	63	63					19																	37004907		2203	4300	6503	SO:0001583	missense	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1234C>G	19.37:g.37004907G>C	ENSP00000429803:p.His412Asp		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H412D	ENST00000523638.1	37	c.1234	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063083	0.55432	.	.	ENSG00000254004	ENST00000523638	T	0.07021	3.23	4.07	2.94	0.34122	Zinc finger, C2H2 (2);	.	.	.	.	T	0.03783	0.0107	N	0.01751	-0.74	0.33375	D	0.574067	P	0.42827	0.791	B	0.41236	0.351	T	0.25779	-1.0122	9	0.66056	D	0.02	.	9.728	0.40344	0.0:0.2998:0.7002:0.0	.	412	Q3ZCT1	ZN260_HUMAN	D	412	ENSP00000429803:H412D	ENSP00000429803:H412D	H	-	1	0	ZNF260	41696747	0.098000	0.21812	1.000000	0.80357	0.976000	0.68499	0.054000	0.14205	2.241000	0.73720	0.462000	0.41574	CAT	ZNF260	-	pfscan_Znf_C2H2		0.343	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	G	NM_001012756		37004907	-1	no_errors	ENST00000523638	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37004907	G	C	37004907	3	2	128	1	0	0	0	0	1	0	0	0	17832	1290	45	1	8	1	ZNF260	19	37004907	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	27554993	37004907	22124076	84	19873										
SPTBN4	57731	genome.wustl.edu	37	chr19	41071420	41071420	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctgagctgaccacctgccagGagctggggcgatctctgctg	14	13	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:41071420G>T	ENST00000352632.3	+	28	6093	c.6007G>T	c.(6007-6009)Gag>Tag	p.E2003*	SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.E746*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.E2003*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.E2003*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2003					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTGCCAGGAGCTGGGGCG	0.637																																																	0													57	56	56					19																	41071420		2203	4300	6503	SO:0001587	stop_gained	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6007G>T	19.37:g.41071420G>T	ENSP00000263373:p.Glu2003*		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E2003*	ENST00000352632.3	37	c.6007	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	46	12.882067	0.99703	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	.	.	.	4.62	4.62	0.57501	.	0.203909	0.30584	U	0.009308	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.4554	0.84011	0.0:0.0:1.0:0.0	.	.	.	.	X	2003;2003;2003;746	.	ENSP00000340345:E2003X	E	+	1	0	SPTBN4	45763260	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.555000	0.98123	2.429000	0.82318	0.549000	0.68633	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41071420	1	no_errors	ENST00000352632	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41071420	G	T	41071420	4	4	128	1	0	0	0	0	0	1	0	0	15151	1175	41	3	6207	3	SPTBN4	19	41071420	Nonsense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	4066513	41071420	18057563	85	19874										
ZNF284	342909	genome.wustl.edu	37	chr19	44590140	44590140	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tcttcatcaacaattacactCaggaaagatatcccatacat	3	11	4	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:44590140C>G	ENST00000421176.3	+	5	725	c.509C>G	c.(508-510)tCa>tGa	p.S170*	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CAATTACACTCAGGAAAGATA	0.383																																																	0													52	51	51					19																	44590140		2047	4219	6266	SO:0001587	stop_gained	342909			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.509C>G	19.37:g.44590140C>G	ENSP00000411032:p.Ser170*		Q86WM1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S170*	ENST00000421176.3	37	c.509	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839401	0.71488	.	.	ENSG00000186026	ENST00000421176	.	.	.	2.59	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3677	0.32397	0.0:0.8712:0.0:0.1288	.	.	.	.	X	170	.	ENSP00000411032:S170X	S	+	2	0	ZNF284	49281980	0.000000	0.05858	0.009000	0.14445	0.025000	0.11179	-0.599000	0.05700	0.404000	0.25506	0.462000	0.41574	TCA	ZNF284	-	NULL		0.383	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1	C	NM_001037813		44590140	1	no_errors	ENST00000421176	ensembl	human	known	70_37	nonsense	SNP	0.123	G	G	44590140	C	G	44590140	4	3	128	1	0	0	0	0	0	1	0	0	17851	838	29	1	523	1	ZNF284	19	44590140	Nonsense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	3518720	44590140	14538843	86	19875										
SIGLEC14	100049587	genome.wustl.edu	37	chr19	52149143	52149143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gggcctgggggtgagggtgaGctccgaggagcgggtggtct	23	7	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:52149143G>T	ENST00000360844.6	-	3	633	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	198	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GTGAGGGTGAGCTCCGAGGAG	0.637																																																	0													21	23	23					19																	52149143		2051	4170	6221	SO:0001583	missense	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.592C>A	19.37:g.52149143G>T	ENSP00000354090:p.Leu198Ile		Q6UXG0	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L198I	ENST00000360844.6	37	c.592	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145636	0.37923	.	.	ENSG00000254415	ENST00000360844	T	0.39229	1.09	3.09	-4.73	0.03259	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.753526	0.10734	N	0.640319	T	0.47967	0.1474	L	0.58925	1.835	0.09310	N	1	P	0.37207	0.587	P	0.56398	0.797	T	0.55535	-0.8126	10	0.52906	T	0.07	.	3.4018	0.07327	0.1149:0.484:0.2379:0.1632	.	198	Q08ET2	SIG14_HUMAN	I	198	ENSP00000354090:L198I	ENSP00000354090:L198I	L	-	1	0	SIGLEC14	56840955	0.004000	0.15560	0.001000	0.08648	0.011000	0.07611	0.043000	0.13971	-0.492000	0.06687	-1.620000	0.00792	CTC	SIGLEC14	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.637	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	G	NM_001098612		52149143	-1	no_errors	ENST00000360844	ensembl	human	known	70_37	missense	SNP	0.001	T	T	52149143	G	T	52149143	3	4	128	1	0	0	0	0	1	0	0	0	14339	971	34	4	618	4	SIGLEC14	19	52149143	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	7559003	52149143	6979840	87	19876										
NCR1	9437	genome.wustl.edu	37	chr19	55417656	55417656	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctcattactcccgtcttccaGggctgtgtctgagtcagagg	11	12	4	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:55417656G>A	ENST00000291890.4	+	2	72		c.e2-1		NCR1_ENST00000338835.5_Splice_Site|NCR1_ENST00000350790.5_Splice_Site|NCR1_ENST00000447255.1_Splice_Site|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000594765.1_Splice_Site|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1						cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCGTCTTCCAGGGCTGTGTCT	0.607																																																	0													113	92	99					19																	55417656		2203	4300	6503	SO:0001630	splice_region_variant	9437			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.35-1G>A	19.37:g.55417656G>A			B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Splice_Site	SNP	-	e2-1	ENST00000291890.4	37	c.35-1	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	.	14.60	2.585163	0.46110	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790	.	.	.	3.31	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4363	0.44437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCR1	60109468	0.987000	0.35691	0.781000	0.31783	0.838000	0.47535	1.882000	0.39648	2.171000	0.68590	0.650000	0.86243	.	NCR1	-	-		0.607	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	G		Intron	55417656	1	no_errors	ENST00000291890	ensembl	human	known	70_37	splice_site	SNP	0.799	A	A	55417656	G	A	55417656	5	1	128	1	0	0	0	0	0	0	1	0	10261	1014	35	4	40	4	NCR1	19	55417656	Splice_Site	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	3268513	55417656	3711327	88	19877										
NLRP4	147945	genome.wustl.edu	37	chr19	56388409	56388409	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tggctgtgaagacctcgcctCtgctctcatcagcaatcaaa	8	13	4	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:56388409C>G	ENST00000301295.6	+	8	2995	c.2573C>G	c.(2572-2574)tCt>tGt	p.S858C	NLRP4_ENST00000346986.5_Missense_Mutation_p.S802C|NLRP4_ENST00000587891.1_Missense_Mutation_p.S783C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	858					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACCTCGCCTCTGCTCTCATC	0.463																																																	0													187	183	184					19																	56388409		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2573C>G	19.37:g.56388409C>G	ENSP00000301295:p.Ser858Cys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S858C	ENST00000301295.6	37	c.2573	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078825	0.36662	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.43294	0.95;0.95	3.78	-4.32	0.03688	.	.	.	.	.	T	0.52403	0.1732	M	0.74647	2.275	0.09310	N	1	P;D;D	0.76494	0.732;0.999;0.999	B;D;P	0.66847	0.333;0.947;0.887	T	0.47724	-0.9095	9	0.52906	T	0.07	.	3.3943	0.07300	0.47:0.2223:0.0:0.3077	.	802;783;858	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	C	858;802	ENSP00000301295:S858C;ENSP00000344787:S802C	ENSP00000301295:S858C	S	+	2	0	NLRP4	61080221	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.413000	0.07123	-0.575000	0.05982	0.484000	0.47621	TCT	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	C	NM_134444		56388409	1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56388409	C	G	56388409	3	3	128	1	0	0	0	0	1	0	0	0	10503	913	32	1	2599	1	NLRP4	19	56388409	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	970753	56388409	2740574	89	19878										
UBOX5	22888	genome.wustl.edu	37	chr20	3102944	3102944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ctttgcctaccaaggtgaacGcctccttgtctgggacagat	10	12	1	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:3102944G>A	ENST00000217173.2	-	3	812	c.341C>T	c.(340-342)gCg>gTg	p.A114V	UBOX5_ENST00000348031.2_Missense_Mutation_p.A114V|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CAAGGTGAACGCCTCCTTGTC	0.567																																																	0													55	54	54					20																	3102944		2203	4300	6503	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.341C>T	20.37:g.3102944G>A	ENSP00000217173:p.Ala114Val			Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.A114V	ENST00000217173.2	37	c.341	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426118	0.25726	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.32753	1.44;1.44	5.32	3.25	0.37280	.	0.784175	0.11815	U	0.526776	T	0.24851	0.0603	L	0.51422	1.61	0.09310	N	1	B;B;B	0.34313	0.448;0.083;0.448	B;B;B	0.28011	0.085;0.011;0.085	T	0.16305	-1.0407	10	0.52906	T	0.07	-3.4802	7.0495	0.25065	0.1507:0.1423:0.707:0.0	.	114;114;114	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	V	114	ENSP00000217173:A114V;ENSP00000311726:A114V	ENSP00000217173:A114V	A	-	2	0	UBOX5	3050944	0.006000	0.16342	0.477000	0.27303	0.829000	0.46940	1.011000	0.29911	1.232000	0.43678	0.563000	0.77884	GCG	UBOX5	-	NULL		0.567	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	G	NM_014948		3102944	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	missense	SNP	0.063	A	A	3102944	G	A	3102944	3	1	128	1	0	0	0	0	1	0	0	0	16925	1087	38	2	1296	2	UBOX5	20	3102944	Missense_Mutation	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09		3102944	59922576	90	19879										
RRBP1	6238	genome.wustl.edu	37	chr20	17622492	17622492	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gacagccgcatcttcctgttCtgtggccagcagtttttcct	9	13	2	0			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:17622492C>T	ENST00000377813.1	-	5	2437	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	RRBP1_ENST00000246043.4_Missense_Mutation_p.E712K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E279K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E279K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E53K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	712					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.L275_V285delLLATEQEDAAV(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCTTCCTGTTCTGTGGCCAGC	0.547																																																	1	Deletion - In frame(1)	breast(1)											146	129	134					20																	17622492		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2134G>A	20.37:g.17622492C>T	ENSP00000367044:p.Glu712Lys		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.E712K	ENST00000377813.1	37	c.2134		20	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672077	0.88348	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.41400	2.15;2.15;2.15;2.15;1.0	6.08	6.08	0.98989	.	0.000000	0.38005	N	0.001846	T	0.62270	0.2414	M	0.77313	2.365	0.80722	D	1	D	0.69078	0.997	P	0.62560	0.904	T	0.59279	-0.7484	10	0.35671	T	0.21	-43.6607	15.166	0.72825	0.0:0.8596:0.1404:0.0	.	279	Q9P2E9-3	.	K	279;712;279;712;53	ENSP00000354045:E279K;ENSP00000367044:E712K;ENSP00000367038:E279K;ENSP00000246043:E712K;ENSP00000401206:E53K	ENSP00000246043:E712K	E	-	1	0	RRBP1	17570492	1.000000	0.71417	0.997000	0.53966	0.634000	0.38068	5.561000	0.67339	2.894000	0.99253	0.655000	0.94253	GAA	RRBP1	-	NULL		0.547	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	C	NM_001042576		17622492	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17622492	C	T	17622492	3	4	128	1	0	0	0	0	1	0	0	0	13708	922	32	1	2182	1	RRBP1	20	17622492	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	14519548	17622492	45403028	91	19880										
LAMA5	3911	genome.wustl.edu	37	chr20	60904023	60904023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	ggggcctgtagcacctacttCgtggcagccacatggacggg	15	12	0	0	rs139764752		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:60904023C>T	ENST00000252999.3	-	34	4390	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1442	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCACCTACTTCGTGGCAGCCA	0.622																																																	0								C	LYS/GLU	0,4404		0,0,2202	54	56	55		4324	2.4	1	20	dbSNP_134	55	1,8597	1.2+/-3.3	0,1,4298	yes	missense	LAMA5	NM_005560.3	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1442/3696	60904023	1,13001	2202	4299	6501	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4324G>A	20.37:g.60904023C>T	ENSP00000252999:p.Glu1442Lys		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.E1442K	ENST00000252999.3	37	c.4324	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736555	0.49045	0.0	1.16E-4	ENSG00000130702	ENST00000252999	T	0.61742	0.08	4.47	2.4	0.29515	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.37897	1.145	0.80722	D	1	D	0.67145	0.996	P	0.58130	0.833	T	0.49606	-0.8922	10	0.13470	T	0.59	.	14.0264	0.64588	0.0:0.7199:0.2801:0.0	.	1442	O15230	LAMA5_HUMAN	K	1442	ENSP00000252999:E1442K	ENSP00000252999:E1442K	E	-	1	0	LAMA5	60337418	1.000000	0.71417	0.996000	0.52242	0.700000	0.40528	5.549000	0.67261	0.267000	0.21916	0.455000	0.32223	GAA	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.622	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	C	NM_005560		60904023	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60904023	C	T	60904023	3	4	128	1	0	0	0	0	1	0	0	0	8629	893	31	1	6951	1	LAMA5	20	60904023	Missense_Mutation	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09	43281531	60904023	2121497	92	19881										
LAMA5	3911	genome.wustl.edu	37	chr20	60905569	60905569	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cacacgcggccggcgttgatGaggacttccacggggaaggt	16	11	0	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:60905569G>A	ENST00000252999.3	-	31	4020	c.3954C>T	c.(3952-3954)ctC>ctT	p.L1318L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1318	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGCGTTGATGAGGACTTCCA	0.672																																																	0													35	29	31					20																	60905569		2179	4268	6447	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3954C>T	20.37:g.60905569G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.L1318	ENST00000252999.3	37	c.3954	CCDS33502.1	20																																																																																			LAMA5	-	NULL		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60905569	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	silent	SNP	0.015	A	A	60905569	G	A	60905569	2	1	128	1	0	0	0	0	0	0	0	1	8629	1277	45	1		1	LAMA5	20	60905569	Silent	SNP	G	TCGA-FU-A2QG-01A-11D-A18J-09	1546	60905569	2119951	93	19882										
TRPM2	7226	genome.wustl.edu	37	chr21	45837900	45837900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	gagtaccacggccgccccgcCgcgccgccccccttcatcct	9	23	1	0	rs372801595		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr21:45837900C>T	ENST00000397928.1	+	21	3682	c.3237C>T	c.(3235-3237)gcC>gcT	p.A1079A	TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Silent_p.A1079A|TRPM2_ENST00000300482.5_Silent_p.A1079A|TRPM2_ENST00000300481.9_Silent_p.A1059A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1079					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						gccgccccgccgcgccgcccc	0.622													C|||	1	0.000199681	0	0	5008	,	,		17582	0		0	False		,,,				2504	0.001																0													52	52	52					21																	45837900		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3237C>T	21.37:g.45837900C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.A1079	ENST00000397928.1	37	c.3237	CCDS13710.1	21																																																																																			TRPM2	-	NULL		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45837900	1	no_errors	ENST00000300482	ensembl	human	known	70_37	silent	SNP	0.107	T	T	45837900	C	T	45837900	2	4	128	1	0	0	0	0	0	0	0	1	16617	639	23	2		2	TRPM2	21	45837900	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		45837900	2291995	94	19883										
CSF2RB	1439	genome.wustl.edu	37	chr22	37334480	37334480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cattcagctcttcaaagcccTgaagcagcaggactacctgt	8	13	3	1			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr22:37334480T>C	ENST00000403662.3	+	14	2852	c.2630T>C	c.(2629-2631)cTg>cCg	p.L877P	CSF2RB_ENST00000536485.1_Missense_Mutation_p.L824P|CSF2RB_ENST00000262825.5_Missense_Mutation_p.L883P|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L883P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	877					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TTCAAAGCCCTGAAGCAGCAG	0.602																																																	0													62	69	66					22																	37334480		2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2630T>C	22.37:g.37334480T>C	ENSP00000384053:p.Leu877Pro		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.L883P	ENST00000403662.3	37	c.2648	CCDS13936.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.41|13.41	2.230014|2.230014	0.39399|0.39399	.|.	.|.	ENSG00000100368|ENSG00000100368	ENST00000539104|ENST00000403662;ENST00000262825;ENST00000406230;ENST00000536485	.|D;D;D;D	.|0.95001	.|-3.06;-3.57;-3.57;-3.58	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|1.514340	.|0.04550	.|N	.|0.389750	.|D	.|0.96500	.|0.8858	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74348	.|0.983;0.936	.|D	.|0.89590	.|0.3827	.|10	.|0.87932	.|D	.|0	.|-15.5369	11.0406|11.0406	0.47829|0.47829	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|883;877	.|P32927-2;P32927	.|.;IL3RB_HUMAN	.|P	-1|877;883;883;824	.|ENSP00000384053:L877P;ENSP00000262825:L883P;ENSP00000385271:L883P;ENSP00000440003:L824P	.|ENSP00000262825:L883P	.|L	+|+	.|2	.|0	CSF2RB|CSF2RB	35664426|35664426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	1.492000|1.492000	0.35594|0.35594	2.096000|2.096000	0.63516|0.63516	0.528000|0.528000	0.53228|0.53228	.|CTG	CSF2RB	-	pirsf_IL3_rcpt_beta		0.602	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	T	NM_000395		37334480	1	no_errors	ENST00000262825	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37334480	T	C	37334480	3	2	128	1	0	0	0	0	1	0	0	0	3940	1580	55	5	2680	5	CSF2RB	22	37334480	Missense_Mutation	SNP	T	TCGA-FU-A2QG-01A-11D-A18J-09		37334480	13970086	95	19884										
ZXDA	7789	genome.wustl.edu	37	chrX	57935544	57935544	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	tgactccgcaggtgaattttCagcctacaagccttgtcata	8	11	2	2			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chrX:57935544C>T	ENST00000358697.4	-	1	1523	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	437	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L437L(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGTGAATTTTCAGCCTACAAG	0.507																																																	2	Substitution - coding silent(2)	breast(2)											82	74	77					X																	57935544		2203	4300	6503	SO:0001819	synonymous_variant	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1311G>A	X.37:g.57935544C>T			Q9UJP7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L437	ENST00000358697.4	37	c.1311	CCDS14376.1	X																																																																																			ZXDA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.507	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	C	NM_007156		57935544	-1	no_errors	ENST00000358697	ensembl	human	known	70_37	silent	SNP	0.996	T	T	57935544	C	T	57935544	2	4	128	1	0	0	0	0	0	0	0	1	18280	813	29	1		1	ZXDA	23	57935544	Silent	SNP	C	TCGA-FU-A2QG-01A-11D-A18J-09		57935544	97335016	96	19885										
GRIA3	2892	genome.wustl.edu	37	chrX	122532563	122532563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.389473684210526	37	6.25387757757832e-11	3.22304179838426	4.43120905300774	2.71780821917808	0.182695739345778	0.407390499230815	26	cctgaggaggcagcgagtagAtgtgtcccggagaggaagtg	18	7	0	3			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chrX:122532563A>G	ENST00000371251.1	+	7	1041	c.989A>G	c.(988-990)gAt>gGt	p.D330G	GRIA3_ENST00000541091.1_Missense_Mutation_p.D314G|GRIA3_ENST00000264357.5_Missense_Mutation_p.D330G|GRIA3_ENST00000542149.1_Missense_Mutation_p.D330G|GRIA3_ENST00000371256.5_Missense_Mutation_p.D330G			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	330					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CAGCGAGTAGATGTGTCCCGG	0.473																																																	0													114	89	97					X																	122532563		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.989A>G	X.37:g.122532563A>G	ENSP00000360297:p.Asp330Gly		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D330G	ENST00000371251.1	37	c.989	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998820	0.54147	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	L	0.58101	1.795	0.80722	D	1	D;D;D	0.63046	0.987;0.992;0.99	D;D;D	0.74674	0.934;0.984;0.973	T	0.33574	-0.9863	10	0.87932	D	0	.	14.3681	0.66820	1.0:0.0:0.0:0.0	.	314;330;330	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	G	330;330;330;330;314	ENSP00000264357:D330G;ENSP00000446146:D330G;ENSP00000360302:D330G;ENSP00000360297:D330G;ENSP00000446440:D314G	ENSP00000264357:D330G	D	+	2	0	GRIA3	122360244	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.339000	0.96797	1.992000	0.58205	0.486000	0.48141	GAT	GRIA3	-	pfam_ANF_lig-bd_rcpt		0.473	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	A	NM_000828		122532563	1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122532563	A	G	122532563	3	3	128	1	0	0	0	0	1	0	0	0	6789	333	12	5	1015	5	GRIA3	23	122532563	Missense_Mutation	SNP	A	TCGA-FU-A2QG-01A-11D-A18J-09	64597019	122532563	32737997	97	19886										
BAI2	576	genome.wustl.edu	37	chr1	32203034	32203034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ggaagtctgcacctgccttgCtcagcacccgggactggccc	12	16	2	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:32203034C>T	ENST00000373658.3	-	20	3316	c.2975G>A	c.(2974-2976)aGc>aAc	p.S992N	BAI2_ENST00000398556.3_Missense_Mutation_p.S940N|BAI2_ENST00000373655.2_Missense_Mutation_p.S992N|BAI2_ENST00000398547.1_Missense_Mutation_p.S925N|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000257070.4_Missense_Mutation_p.S992N|BAI2_ENST00000440175.2_Missense_Mutation_p.S634N|BAI2_ENST00000527361.1_Missense_Mutation_p.S992N|BAI2_ENST00000398542.1_Missense_Mutation_p.S925N|BAI2_ENST00000398538.1_Missense_Mutation_p.S980N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	992					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCTGCCTTGCTCAGCACCCG	0.562																																																	0													85	79	81					1																	32203034		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2975G>A	1.37:g.32203034C>T	ENSP00000362762:p.Ser992Asn		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S992N	ENST00000373658.3	37	c.2975	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	6.091	0.385024	0.11524	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.04	5.04	0.67666	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000090	T	0.23649	0.0572	N	0.03881	-0.34	0.47819	D	0.999523	B;B;B;B;B	0.23316	0.082;0.067;0.03;0.082;0.083	B;B;B;B;B	0.32928	0.155;0.051;0.048;0.155;0.086	T	0.11203	-1.0597	10	0.02654	T	1	.	18.8871	0.92383	0.0:1.0:0.0:0.0	.	992;980;634;992;992	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	N	940;925;992;992;925;992;992;634;980	ENSP00000381564:S940N;ENSP00000381555:S925N;ENSP00000362762:S992N;ENSP00000362759:S992N;ENSP00000381550:S925N;ENSP00000257070:S992N;ENSP00000435397:S992N;ENSP00000391071:S634N;ENSP00000381548:S980N	ENSP00000257070:S992N	S	-	2	0	BAI2	31975621	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	1.515000	0.35845	2.724000	0.93272	0.561000	0.74099	AGC	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.562	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32203034	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32203034	C	T	32203034	3	4	129	1	0	0	0	0	1	0	0	0	1300	797	28	4	1838	4	BAI2	1	32203034	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		32203034	217047587	1	19887										
KIAA0494	9813	genome.wustl.edu	37	chr1	47144274	47144274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	taggtcagcttcccatccacGtcctggccagtcttgcggaa	10	14	2	0	rs376760911		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:47144274G>A	ENST00000371933.3	-	11	2323	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	449	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										TCCCATCCACGTCCTGGCCAG	0.418																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	84	86	85		1347	-5.3	0.1	1		85	0,8600		0,0,4300	no	coding-synonymous	KIAA0494	NM_014774.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		449/496	47144274	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1347C>T	1.37:g.47144274G>A			D3DQ23|Q5SXB8	Silent	SNP	pfscan_EF_HAND_2	p.D449	ENST00000371933.3	37	c.1347	CCDS30706.1	1																																																																																			KIAA0494	-	pfscan_EF_HAND_2		0.418	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0494	HGNC	protein_coding	OTTHUMT00000021931.1	G	NM_014774		47144274	-1	no_errors	ENST00000371933	ensembl	human	known	70_37	silent	SNP	0.002	A	A	47144274	G	A	47144274	2	1	129	1	0	0	0	0	0	0	0	1	8199	1136	40	2		2	KIAA0494	1	47144274	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	14941240	47144274	202106347	2	19888										
ASB17	127247	genome.wustl.edu	37	chr1	76397739	76397739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gttaaaacttacttcaaaacGgtatcctgatttttccacaa	4	9	1	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:76397739G>A	ENST00000284142.6	-	1	377	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACTTCAAAACGGTATCCTGAT	0.373																																																	0													127	117	120					1																	76397739		2203	4300	6503	SO:0001583	missense	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.238C>T	1.37:g.76397739G>A	ENSP00000284142:p.Arg80Cys		B1APB8|Q8N0X5	Missense_Mutation	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.R80C	ENST00000284142.6	37	c.238	CCDS671.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728133	0.48833	.	.	ENSG00000154007	ENST00000284142	T	0.44881	0.91	6.08	3.24	0.37175	.	0.334157	0.26096	N	0.026370	T	0.13500	0.0327	N	0.24115	0.695	0.40531	D	0.980936	B	0.11235	0.004	B	0.04013	0.001	T	0.05484	-1.0882	10	0.87932	D	0	.	8.4951	0.33123	0.239:0.0:0.761:0.0	.	80	Q8WXJ9	ASB17_HUMAN	C	80	ENSP00000284142:R80C	ENSP00000284142:R80C	R	-	1	0	ASB17	76170327	1.000000	0.71417	0.935000	0.37517	0.380000	0.30137	2.588000	0.46137	0.469000	0.27268	0.655000	0.94253	CGT	ASB17	-	superfamily_Ankyrin_rpt-contain_dom		0.373	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	G	NM_080868		76397739	-1	no_errors	ENST00000284142	ensembl	human	known	70_37	missense	SNP	0.947	A	A	76397739	G	A	76397739	3	1	129	1	0	0	0	0	1	0	0	0	1022	1116	39	2	661	2	ASB17	1	76397739	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	29253465	76397739	172852882	3	19889										
C1orf103	55791	genome.wustl.edu	37	chr1	111490913	111490913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	taggagttgggaaccggtgaCattagcttccccatttatga	11	8	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:111490913C>G	ENST00000369763.4	-	4	2368	c.1978G>C	c.(1978-1980)Gtc>Ctc	p.V660L	LRIF1_ENST00000485275.2_Missense_Mutation_p.V124L|LRIF1_ENST00000494675.1_Missense_Mutation_p.V124L|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAACCGGTGACATTAGCTTCC	0.363																																																	0													262	230	241					1																	111490913		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1978G>C	1.37:g.111490913C>G	ENSP00000358778:p.Val660Leu		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.V660L	ENST00000369763.4	37	c.1978	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.231658	0.01505	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.31247	1.91;1.5;1.5	5.72	1.56	0.23342	.	0.833592	0.10417	N	0.677182	T	0.05823	0.0152	L	0.31926	0.97	0.09310	N	0.999993	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.40021	-0.9585	10	0.11485	T	0.65	3.3161	3.0279	0.06097	0.1459:0.5487:0.1417:0.1637	.	124;660	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	L	660;124;124	ENSP00000358778:V660L;ENSP00000435259:V124L;ENSP00000432290:V124L	ENSP00000358778:V660L	V	-	1	0	LRIF1	111292436	0.000000	0.05858	0.278000	0.24718	0.018000	0.09664	-0.134000	0.10436	0.760000	0.33108	0.591000	0.81541	GTC	LRIF1	-	NULL		0.363	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111490913	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	0.223	G	G	111490913	C	G	111490913	3	3	129	1	0	0	0	0	1	0	0	0	1982	478	17	4	335	4	C1orf103	1	111490913	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	35093174	111490913	137759708	4	19890										
LOR	4014	genome.wustl.edu	37	chr1	153233506	153233506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ggcggcggtggcggtggcggCggcagcggcggtggtggctg	26	9	0	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:153233506C>T	ENST00000368742.3	+	2	138	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	27					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G27G(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggtggcggcggcagcggcg	0.682																																																	1	Substitution - coding silent(1)	lung(1)											8	10	9					1																	153233506		2045	4027	6072	SO:0001819	synonymous_variant	4014			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.81C>T	1.37:g.153233506C>T			Q5T869|Q5XKF8	Silent	SNP	NULL	p.G27	ENST00000368742.3	37	c.81	CCDS30870.1	1																																																																																			LOR	-	NULL		0.682	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	HGNC	protein_coding	OTTHUMT00000039107.1	C	NM_000427		153233506	1	no_errors	ENST00000368742	ensembl	human	known	70_37	silent	SNP	0.000	T	T	153233506	C	T	153233506	2	4	129	1	0	0	0	0	0	0	0	1	8920	755	27	2		2	LOR	1	153233506	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	41742593	153233506	96017115	5	19891										
SPTA1	6708	genome.wustl.edu	37	chr1	158641935	158641935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ctgctcatactgacgatgacGctcgtcccacagttccagca	8	15	1	2	rs565907779		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:158641935G>A	ENST00000368147.4	-	11	1582	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R468C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGATGACGCTCGTCCCAC	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		18201	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											106	103	104					1																	158641935		1959	4157	6116	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1402C>T	1.37:g.158641935G>A	ENSP00000357129:p.Arg468Cys		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R468C	ENST00000368147.4	37	c.1402	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830990	0.50845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61510	0.1;0.1	5.0	4.08	0.47627	.	0.265080	0.20210	N	0.096925	T	0.54615	0.1869	M	0.79475	2.455	0.54753	D	0.999989	P	0.43024	0.798	P	0.47573	0.55	T	0.62263	-0.6891	10	0.66056	D	0.02	.	11.3638	0.49660	0.0894:0.0:0.9106:0.0	.	468	P02549	SPTA1_HUMAN	C	468	ENSP00000357130:R468C;ENSP00000357129:R468C	ENSP00000357129:R468C	R	-	1	0	SPTA1	156908559	1.000000	0.71417	0.116000	0.21606	0.064000	0.16182	5.648000	0.67930	1.300000	0.44818	0.655000	0.94253	CGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158641935	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	0.993	A	A	158641935	G	A	158641935	3	1	129	1	0	0	0	0	1	0	0	0	15146	1087	38	2	6025	2	SPTA1	1	158641935	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	5408429	158641935	90608686	6	19892										
SDHC	6391	genome.wustl.edu	37	chr1	161326591	161326591	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gctaagtttgcacttgtcttCcctctcatgtatcatacctg	6	12	3	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:161326591C>T	ENST00000367975.2	+	5	515	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SDHC_ENST00000392169.2_Silent_p.F69F|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000432287.2_Silent_p.F88F	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	122					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CACTTGTCTTCCCTCTCATGT	0.483			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1q21	6391	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"		O	0													170	158	162					1																	161326591		2203	4300	6503	SO:0001819	synonymous_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.366C>T	1.37:g.161326591C>T			O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Silent	SNP	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556	p.F122	ENST00000367975.2	37	c.366	CCDS1230.1	1																																																																																			SDHC	-	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556		0.483	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHC	HGNC	protein_coding	OTTHUMT00000083316.2	C	NM_003001		161326591	1	no_errors	ENST00000367975	ensembl	human	known	70_37	silent	SNP	0.903	T	T	161326591	C	T	161326591	2	4	129	1	0	0	0	0	0	0	0	1	13996	854	30	1		1	SDHC	1	161326591	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	2684656	161326591	87924030	7	19893										
SEC16B	89866	genome.wustl.edu	37	chr1	177906448	177906448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ccctggtagatgggtctcagGaactgagtaaaaaggcctcg	13	9	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:177906448G>A	ENST00000308284.6	-	19	2493	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'Flank	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	802					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGGTCTCAGGAACTGAGTAA	0.642																																																	0													49	56	53					1																	177906448		2003	4166	6169	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2404C>T	1.37:g.177906448G>A	ENSP00000308339:p.Pro802Ser		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.P802S	ENST00000308284.6	37	c.2404	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145841	0.37923	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.20069	2.1	4.59	3.66	0.41972	.	0.393999	0.24841	N	0.035173	T	0.21761	0.0524	L	0.55481	1.735	0.23459	N	0.997633	P;P;P;B	0.43352	0.518;0.804;0.804;0.297	B;B;B;B	0.41412	0.255;0.356;0.356;0.172	T	0.07558	-1.0766	10	0.40728	T	0.16	-8.9788	10.8618	0.46831	0.0:0.1905:0.8095:0.0	.	357;803;802;499	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	S	802;486;517	ENSP00000308339:P802S	ENSP00000239472:P517S	P	-	1	0	AL359075.1	176173071	0.216000	0.23585	0.413000	0.26509	0.287000	0.27160	2.544000	0.45761	1.276000	0.44395	0.650000	0.86243	CCT	SEC16B	-	NULL		0.642	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	G	NM_033127		177906448	-1	no_errors	ENST00000308284	ensembl	human	known	70_37	missense	SNP	0.169	A	A	177906448	G	A	177906448	3	1	129	1	0	0	0	0	1	0	0	0	14017	1174	41	1	810	1	SEC16B	1	177906448	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	16579857	177906448	71344173	8	19894										
IPO9	55705	genome.wustl.edu	37	chr1	201839837	201839837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tgagccagctcctggaccccCgcacctcagagttcactgcg	10	17	2	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:201839837C>T	ENST00000361565.4	+	18	2329	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	754					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTGGACCCCCGCACCTCAGA	0.582																																																	0													91	81	84					1																	201839837		2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2260C>T	1.37:g.201839837C>T	ENSP00000354742:p.Arg754Cys		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R754C	ENST00000361565.4	37	c.2260	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.344421	0.95807	.	.	ENSG00000198700	ENST00000361565	T	0.67345	-0.26	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.50490	0.642	T	0.71994	-0.4424	10	0.66056	D	0.02	-3.9361	17.091	0.86622	0.0:1.0:0.0:0.0	.	754	Q96P70	IPO9_HUMAN	C	754	ENSP00000354742:R754C	ENSP00000354742:R754C	R	+	1	0	IPO9	200106460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.659000	0.54489	2.629000	0.89072	0.591000	0.81541	CGC	IPO9	-	superfamily_ARM-type_fold		0.582	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201839837	1	no_errors	ENST00000361565	ensembl	human	known	70_37	missense	SNP	1.000	T	T	201839837	C	T	201839837	3	4	129	1	0	0	0	0	1	0	0	0	7819	652	23	2	2330	2	IPO9	1	201839837	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	23933389	201839837	47410784	9	19895										
IKBKE	9641	genome.wustl.edu	37	chr1	206651130	206651130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gaagccggctggggccattgCaggtgcccagaggcgggaga	19	10	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:206651130C>T	ENST00000367120.3	+	8	1113	c.740C>T	c.(739-741)gCa>gTa	p.A247V	IKBKE_ENST00000537984.1_Missense_Mutation_p.A162V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGGGCCATTGCAGGTGCCCAG	0.662																																																	0													13	14	14					1																	206651130		2187	4281	6468	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.740C>T	1.37:g.206651130C>T	ENSP00000356087:p.Ala247Val		D3DT78|Q3B754|Q3KR43|Q5JTS6	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.A247V	ENST00000367120.3	37	c.740	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876326	0.72180	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.61859	1.0;0.07	4.87	4.87	0.63330	Protein kinase, catalytic domain (1);	0.246361	0.39687	N	0.001288	T	0.68311	0.2987	L	0.42581	1.335	0.45354	D	0.998345	D;D	0.63046	0.988;0.992	P;D	0.63703	0.836;0.917	T	0.69716	-0.5070	10	0.49607	T	0.09	-4.8482	18.0149	0.89236	0.0:1.0:0.0:0.0	.	162;247	Q3B754;Q14164	.;IKKE_HUMAN	V	247;162	ENSP00000356087:A247V;ENSP00000444529:A162V	ENSP00000356087:A247V	A	+	2	0	IKBKE	204717753	0.999000	0.42202	0.032000	0.17829	0.090000	0.18270	5.908000	0.69916	2.246000	0.74042	0.561000	0.74099	GCA	IKBKE	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.662	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	C			206651130	1	no_errors	ENST00000367120	ensembl	human	known	70_37	missense	SNP	0.978	T	T	206651130	C	T	206651130	3	4	129	1	0	0	0	0	1	0	0	0	7632	710	25	4	762	4	IKBKE	1	206651130	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	4811293	206651130	42599491	10	19896										
RHOB	388	genome.wustl.edu	37	chr2	20647696	20647697	+	Frame_Shift_Ins	INS	-	-	TG													0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	atccaagcctacgactacctINScgagtgctctgccaagacca							TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:20647696_20647697insTG	ENST00000272233.4	+	1	862_863	c.470_471insTG	c.(469-474)ctcgagfs	p.E158fs		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	158					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	TACGACTACCTCGAGTGCTCTG	0.668																																																	0																																										SO:0001589	frameshift_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	Exception_encountered	2.37:g.20647696_20647697insTG	ENSP00000272233:p.Glu158fs		B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E158fs	ENST00000272233.4	37	c.470_471	CCDS1699.1	2																																																																																			RHOB	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.668	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOB	HGNC	protein_coding	OTTHUMT00000207500.1	-	NM_004040		20647697	1	no_errors	ENST00000272233	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TG	TG	20647697	-	TG	20647696	7	5	129	1	0	1	1	0	0	0	0	0	13362	1551	54	0	472	0	RHOB	2	20647696	Frame_Shift_Ins	INS	-	TCGA-FU-A3EO-01A-11D-A20U-09		20647696	222551677	11	19897	118	2								
RHOB	388	genome.wustl.edu	37	chr2	20647697	20647697	+	Silent	SNP	C	C	A													0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	atccaagcctacgactacctCgagtgctctgccaagaccaa							TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:20647697C>A	ENST00000272233.4	+	1	863	c.471C>A	c.(469-471)ctC>ctA	p.L157L		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	157					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	ACGACTACCTCGAGTGCTCTG	0.667																																																	0													69	71	70					2																	20647697		2200	4289	6489	SO:0001819	synonymous_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.471C>A	2.37:g.20647697C>A			B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L157	ENST00000272233.4	37	c.471	CCDS1699.1	2																																																																																			RHOB	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.667	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOB	HGNC	protein_coding	OTTHUMT00000207500.1	C	NM_004040		20647697	1	no_errors	ENST00000272233	ensembl	human	known	70_37	silent	SNP	1.000	A	A	20647697	C	A	20647697	2	1	129	1	0	0	0	0	0	0	0	1	13362	871	31	3		3	RHOB	2	20647697	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	1	20647697	222551676	12	19898	118	2								
DPYSL5	56896	genome.wustl.edu	37	chr2	27165488	27165488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gcgctgccacggcgtgccacTggtcaccatcagccgggggc	15	16	2	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:27165488T>C	ENST00000288699.6	+	11	1468	c.1310T>C	c.(1309-1311)cTg>cCg	p.L437P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.L437P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	437					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTGCCACTGGTCACCATC	0.632											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58	53	55					2																	27165488		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1310T>C	2.37:g.27165488T>C	ENSP00000288699:p.Leu437Pro	792	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L437P	ENST00000288699.6	37	c.1310	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640735	0.87859	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85773	-2.03;-2.03	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	M	0.87180	2.865	0.80722	D	1	D	0.56521	0.976	P	0.50860	0.652	D	0.89961	0.4086	10	0.35671	T	0.21	-17.1377	15.6264	0.76863	0.0:0.0:0.0:1.0	.	437	Q9BPU6	DPYL5_HUMAN	P	437	ENSP00000288699:L437P;ENSP00000385549:L437P	ENSP00000288699:L437P	L	+	2	0	DPYSL5	27018992	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.224000	0.72265	2.333000	0.79357	0.533000	0.62120	CTG	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.632	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	T	NM_020134		27165488	1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27165488	T	C	27165488	3	2	129	1	0	0	0	0	1	0	0	0	4760	1580	55	5	1348	5	DPYSL5	2	27165488	Missense_Mutation	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09	6517791	27165488	216033885	13	19899										
CTNNA2	1496	genome.wustl.edu	37	chr2	80831287	80831287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ctcgaatggacaaattagctCgtgctgtggctgatcaggta	12	8	1	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:80831287C>T	ENST00000402739.4	+	15	2283	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	CTNNA2_ENST00000466387.1_Missense_Mutation_p.R760C|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R760C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R760C|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000599412.2_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R794C|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R439C|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R760C	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	760					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAATTAGCTCGTGCTGTGGC	0.438																																																	0													75	70	72					2																	80831287		1921	4148	6069	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2278C>T	2.37:g.80831287C>T	ENSP00000384638:p.Arg760Cys		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R794C	ENST00000402739.4	37	c.2380		2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657968	0.88154	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.947;0.99;0.988;0.988	T	0.76443	-0.2957	9	.	.	.	.	16.1587	0.81683	0.1339:0.8661:0.0:0.0	.	392;760;760;760	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	C	760;760;794;760;760;760;439	ENSP00000418191:R760C;ENSP00000419295:R760C;ENSP00000355398:R794C;ENSP00000384638:R760C;ENSP00000444675:R760C;ENSP00000441705:R760C;ENSP00000341500:R439C	.	R	+	1	0	CTNNA2	80684798	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	6.008000	0.70739	2.713000	0.92767	0.655000	0.94253	CGT	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	C	NM_004389		80831287	1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80831287	C	T	80831287	3	4	129	1	0	0	0	0	1	0	0	0	4018	884	31	1	2128	1	CTNNA2	2	80831287	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	53665799	80831287	162368086	14	19900										
POLR1A	25885	genome.wustl.edu	37	chr2	86315726	86315727	+	Frame_Shift_Del	DEL	CA	CA	-													0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ttctggccagctgtcctgtgCaccatggctggaaacgtgat							TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:86315726_86315727delCA	ENST00000263857.6	-	6	1070_1071	c.692_693delTG	c.(691-693)gtgfs	p.V231fs	POLR1A_ENST00000409681.1_Frame_Shift_Del_p.V231fs			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	231					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGTCCTGTGCACCATGGCTGG	0.564																																																	0																																										SO:0001589	frameshift_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.692_693delTG	2.37:g.86315726_86315727delCA	ENSP00000263857:p.Val231fs		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.V231fs	ENST00000263857.6	37	c.693_692	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_1		0.564	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	CA	NM_015425		86315727	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	frame_shift_del	DEL	0.981:0.984	-	-	86315727	CA	-	86315726	7	5	129	1	0	1	0	1	0	0	0	0	12233	697	25	0	4585	0	POLR1A	2	86315726	Frame_Shift_Del	DEL	CA	TCGA-FU-A3EO-01A-11D-A20U-09	5484439	86315726	156883647	15	19901										
CACNB4	785	genome.wustl.edu	37	chr2	152954869	152954869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tgaggatgaagctggtcgaaGtggtgctgccatcggatctt	15	7	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:152954869G>A	ENST00000539935.1	-	2	189	c.122C>T	c.(121-123)aCt>aTt	p.T41I	CACNB4_ENST00000427385.1_Missense_Mutation_p.T23I|CACNB4_ENST00000201943.5_Missense_Mutation_p.T41I|AC079790.2_ENST00000420365.1_RNA	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	41					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGGTCGAAGTGGTGCTGCC	0.667																																																	0													71	79	76					2																	152954869		2021	4182	6203	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.122C>T	2.37:g.152954869G>A	ENSP00000438949:p.Thr41Ile		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.T41I	ENST00000539935.1	37	c.122	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393673	0.83011	.	.	ENSG00000182389	ENST00000539935;ENST00000439467;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T	0.73681	-0.77;-0.76;-0.73;-0.76	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	L	0.34521	1.04	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.70487	0.969;0.969;0.969	T	0.82168	-0.0591	10	0.72032	D	0.01	-0.1364	15.9983	0.80268	0.0:0.0:1.0:0.0	.	41;41;23	A7BJ74;O00305;B4DG40	.;CACB4_HUMAN;.	I	41;36;23;41;41	ENSP00000438949:T41I;ENSP00000390161:T36I;ENSP00000410978:T23I;ENSP00000201943:T41I	ENSP00000201943:T41I	T	-	2	0	CACNB4	152663115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.807000	0.75201	2.372000	0.80975	0.655000	0.94253	ACT	CACNB4	-	NULL		0.667	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152954869	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152954869	G	A	152954869	3	1	129	1	0	0	0	0	1	0	0	0	2560	1029	36	4	1541	4	CACNB4	2	152954869	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	66639143	152954869	90244504	16	19902										
TTN	7273	genome.wustl.edu	37	chr2	179637917	179637917	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	atcatctttcatcatatttaGaactgtcaatttatatattt	2	6	5	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:179637917G>A	ENST00000591111.1	-	33	7998	c.7774C>T	c.(7774-7776)Cta>Tta	p.L2592L	TTN_ENST00000342992.6_Silent_p.L2592L|TTN_ENST00000359218.5_Silent_p.L2546L|TTN_ENST00000460472.2_Silent_p.L2546L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.L2592L|TTN_ENST00000589042.1_Silent_p.L2592L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L2546L|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12915					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCATATTTAGAACTGTCAAT	0.328																																																	0													49	51	51					2																	179637917		2203	4299	6502	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7774C>T	2.37:g.179637917G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L2592	ENST00000591111.1	37	c.7774		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179637917	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.208	A	A	179637917	G	A	179637917	2	1	129	1	0	0	0	0	0	0	0	1	16766	933	33	1		1	TTN	2	179637917	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	26683048	179637917	63561456	17	19903										
UROC1	131669	genome.wustl.edu	37	chr3	126208147	126208147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	aaggcagagccgtcgtaaatGttggaggtctccctaaaggg	14	8	1	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr3:126208147G>T	ENST00000290868.2	-	17	1733	c.1680C>A	c.(1678-1680)aaC>aaA	p.N560K	UROC1_ENST00000383579.3_Missense_Mutation_p.N620K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	560					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGTCGTAAATGTTGGAGGTCT	0.488																																																	0													154	147	150					3																	126208147		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1680C>A	3.37:g.126208147G>T	ENSP00000290868:p.Asn560Lys		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.N560K	ENST00000290868.2	37	c.1680	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790146	0.50102	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46451	0.87;0.87	4.59	2.75	0.32379	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.88310	2.945	0.58432	D	0.999999	D;D	0.69078	0.997;0.992	D;D	0.74023	0.982;0.955	T	0.63611	-0.6598	10	0.87932	D	0	-18.9501	6.5516	0.22438	0.3152:0.0:0.6848:0.0	.	620;560	E9PE13;Q96N76	.;HUTU_HUMAN	K	560;620	ENSP00000290868:N560K;ENSP00000373073:N620K	ENSP00000290868:N560K	N	-	3	2	UROC1	127690837	1.000000	0.71417	0.985000	0.45067	0.617000	0.37484	1.473000	0.35387	0.447000	0.26695	0.491000	0.48974	AAC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.488	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	G	NM_144639		126208147	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126208147	G	T	126208147	3	4	129	1	0	0	0	0	1	0	0	0	17059	1368	48	4	366	4	UROC1	3	126208147	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		126208147	71814283	18	19904										
MCF2L2	23101	genome.wustl.edu	37	chr3	183041027	183041027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gtaagctggtactcacagtgCggtgatttacccactgaccg	11	11	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr3:183041027C>T	ENST00000328913.3	-	6	896	c.599G>A	c.(598-600)cGc>cAc	p.R200H	MCF2L2_ENST00000414362.2_Missense_Mutation_p.R200H|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R200H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R200H	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	200							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACTCACAGTGCGGTGATTTAC	0.517																																																	0													121	116	117					3																	183041027		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.599G>A	3.37:g.183041027C>T	ENSP00000328118:p.Arg200His		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R200H	ENST00000328913.3	37	c.599	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801346	0.90538	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.56	4.68	0.58851	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.89414	3.03	0.42127	D	0.991459	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.87578	0.998;0.998;0.848	T	0.65899	-0.6056	10	0.87932	D	0	.	13.0232	0.58800	0.0:0.921:0.0:0.079	.	200;200;200	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	H	200	ENSP00000328118:R200H;ENSP00000420070:R200H;ENSP00000388190:R200H;ENSP00000414131:R200H	ENSP00000328118:R200H	R	-	2	0	MCF2L2	184523721	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	5.614000	0.67695	1.341000	0.45600	0.655000	0.94253	CGC	MCF2L2	-	NULL		0.517	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		183041027	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183041027	C	T	183041027	3	4	129	1	0	0	0	0	1	0	0	0	9403	768	27	2	2845	2	MCF2L2	3	183041027	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	56832880	183041027	14981403	19	19905										
LRBA	987	genome.wustl.edu	37	chr4	151818937	151818937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tcaacaagaatgctcgtagaGaaagcatttctttttgatta	7	6	2	3			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr4:151818937G>C	ENST00000357115.3	-	15	2201	c.1958C>G	c.(1957-1959)tCt>tGt	p.S653C	LRBA_ENST00000510413.1_Missense_Mutation_p.S653C|LRBA_ENST00000507224.1_Missense_Mutation_p.S653C|LRBA_ENST00000535741.1_Missense_Mutation_p.S653C	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	653						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTCGTAGAGAAAGCATTTC	0.328																																																	0													85	80	81					4																	151818937		2202	4300	6502	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1958C>G	4.37:g.151818937G>C	ENSP00000349629:p.Ser653Cys		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S653C	ENST00000357115.3	37	c.1958	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980957	0.92982	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.981;0.998	T	0.72918	-0.4146	10	0.87932	D	0	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	653;653	P50851;P50851-2	LRBA_HUMAN;.	C	653	ENSP00000446299:S653C;ENSP00000421552:S653C;ENSP00000349629:S653C;ENSP00000422180:S653C	ENSP00000349629:S653C	S	-	2	0	LRBA	152038387	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.232000	0.95325	2.747000	0.94245	0.585000	0.79938	TCT	LRBA	-	superfamily_ARM-type_fold		0.328	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151818937	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151818937	G	C	151818937	3	2	129	1	0	0	0	0	1	0	0	0	8954	942	33	1	6809	1	LRBA	4	151818937	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		151818937	39335339	20	19906										
TRIO	7204	genome.wustl.edu	37	chr5	14477003	14477003	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	attttctcctttctttccagCttttttttaggagagttaga	6	7	2	2	rs371806945		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:14477003C>G	ENST00000344204.4	+	41	6108	c.6084C>G	c.(6082-6084)gaC>gaG	p.D2028E	TRIO_ENST00000537187.1_Splice_Site_p.D2028E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2028	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTTTCCAGCTTTTTTTTAG	0.303																																																	0								C	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	77	74	75		6084	4.5	1	5		75	0,8600		0,0,4300	no	missense-near-splice	TRIO	NM_007118.2	45	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	2028/3098	14477003	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6084-1C>G	5.37:g.14477003C>G			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D2028E	ENST00000344204.4	37	c.6084	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666540	0.47677	2.27E-4	0.0	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.60920	0.15;0.15	5.39	4.52	0.55395	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	N	0.20845	0.615	0.54753	D	0.999981	B;P	0.44776	0.05;0.843	B;D	0.63113	0.036;0.911	T	0.55547	-0.8124	9	.	.	.	.	11.084	0.48076	0.0:0.8521:0.0:0.1479	.	2028;2028	O75962-5;O75962	.;TRIO_HUMAN	E	2028;2028;1715;108	ENSP00000339299:D2028E;ENSP00000446348:D2028E	.	D	+	3	2	TRIO	14530003	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.242000	0.51384	1.269000	0.44280	0.585000	0.79938	GAC	TRIO	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.303	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	C	NM_007118	Missense_Mutation	14477003	1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	G	G	14477003	C	G	14477003	5	3	129	1	0	0	0	0	0	0	1	0	16583	811	28	4	6246	4	TRIO	5	14477003	Splice_Site	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		14477003	166438257	21	19907										
RASGRF2	5924	genome.wustl.edu	37	chr5	80497154	80497154	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	cattttattttacaggatttCgaactcaacaatgaactaaa	4	7	1	1	rs371857641		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:80497154C>T	ENST00000265080.4	+	19	2866	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	933					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TACAGGATTTCGAACTCAACA	0.368																																																	0								C		0,4406		0,0,2203	58	67	64		2799	-1	1	5		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RASGRF2	NM_006909.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		933/1238	80497154	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2799C>T	5.37:g.80497154C>T			B9EG89|Q9UK56	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F933	ENST00000265080.4	37	c.2799	CCDS4052.1	5																																																																																			RASGRF2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N		0.368	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	C	NM_006909		80497154	1	no_errors	ENST00000265080	ensembl	human	known	70_37	silent	SNP	1.000	T	T	80497154	C	T	80497154	2	4	129	1	0	0	0	0	0	0	0	1	13103	883	31	1		1	RASGRF2	5	80497154	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	66020151	80497154	100418106	22	19908										
ADAMTS19	171019	genome.wustl.edu	37	chr5	128957956	128957956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	caattctgtgatggttccctCcaagctgccagggatgacat	10	11	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:128957956C>T	ENST00000274487.4	+	10	1812	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	556	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGGTTCCCTCCAAGCTGCCA	0.458																																																	0													161	137	145					5																	128957956		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1667C>T	5.37:g.128957956C>T	ENSP00000274487:p.Ser556Phe			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S556F	ENST00000274487.4	37	c.1667	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722643	0.68959	.	.	ENSG00000145808	ENST00000274487	T	0.67345	-0.26	4.42	3.55	0.40652	Metallopeptidase, catalytic domain (1);	0.078816	0.52532	D	0.000076	T	0.69904	0.3163	M	0.67569	2.06	0.52099	D	0.999944	P	0.49862	0.929	P	0.48982	0.597	T	0.72010	-0.4419	9	.	.	.	.	13.3797	0.60761	0.0:0.9226:0.0:0.0774	.	556	Q8TE59	ATS19_HUMAN	F	556	ENSP00000274487:S556F	.	S	+	2	0	ADAMTS19	128985855	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.081000	0.50120	1.461000	0.47929	0.585000	0.79938	TCC	ADAMTS19	-	NULL		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	C	NM_133638		128957956	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128957956	C	T	128957956	3	4	129	1	0	0	0	0	1	0	0	0	264	855	30	1	1705	1	ADAMTS19	5	128957956	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	48460802	128957956	51957304	23	19909										
ATP10B	23120	genome.wustl.edu	37	chr5	160047923	160047923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gctgaatcttctccagggacGtccccagagccttgcttgag	11	13	2	3			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:160047923G>A	ENST00000327245.5	-	15	2693	c.1847C>T	c.(1846-1848)aCg>aTg	p.T616M	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	616					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAGGGACGTCCCCAGAGC	0.483																																																	0													176	171	172					5																	160047923		1986	4194	6180	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1847C>T	5.37:g.160047923G>A	ENSP00000313600:p.Thr616Met		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T616M	ENST00000327245.5	37	c.1847	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	2.976	-0.211396	0.06140	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85339	-1.97;-1.97	5.53	-2.77	0.05877	HAD-like domain (1);	1.110240	0.06609	N	0.755297	T	0.80737	0.4680	L	0.50333	1.59	0.09310	N	1	B;B	0.23490	0.016;0.086	B;B	0.22386	0.016;0.039	T	0.61850	-0.6978	9	.	.	.	.	13.2751	0.60182	0.6716:0.0:0.3284:0.0	.	224;616	Q2YDW8;O94823	.;AT10B_HUMAN	M	616;224	ENSP00000313600:T616M;ENSP00000431081:T224M	.	T	-	2	0	ATP10B	159980501	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.057000	0.11768	-1.060000	0.03189	-0.982000	0.02568	ACG	ATP10B	-	superfamily_HAD-like_dom		0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	G	NM_025153		160047923	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.000	A	A	160047923	G	A	160047923	3	1	129	1	0	0	0	0	1	0	0	0	1118	1145	40	2	2586	2	ATP10B	5	160047923	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	31089967	160047923	20867337	24	19910										
ODZ2	57451	genome.wustl.edu	37	chr5	167674062	167674062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	acgacagtaccgccgtcaccTtcgggtatgacgagaccact	10	14	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:167674062T>C	ENST00000518659.1	+	27	6157	c.6118T>C	c.(6118-6120)Ttc>Ctc	p.F2040L	TENM2_ENST00000545108.1_Missense_Mutation_p.F2039L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1864L|TENM2_ENST00000519204.1_Missense_Mutation_p.F1919L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1801L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2040					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGCCGTCACCTTCGGGTATGA	0.542																																																	0													82	82	82					5																	167674062		1934	4135	6069	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6118T>C	5.37:g.167674062T>C	ENSP00000429430:p.Phe2040Leu		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F2040L	ENST00000518659.1	37	c.6118		5	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740384	0.69304	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90004	-2.12;-2.11;-2.24;-2.57;-2.6	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.92947	0.6377	10	0.30854	T	0.27	.	15.4825	0.75539	0.0:0.0:0.0:1.0	.	2039;2040;1801	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2040;2039;1919;1801;1864	ENSP00000429430:F2040L;ENSP00000438635:F2039L;ENSP00000428964:F1919L;ENSP00000427874:F1801L;ENSP00000384905:F1864L	ENSP00000384905:F1864L	F	+	1	0	ODZ2	167606640	1.000000	0.71417	0.974000	0.42286	0.919000	0.55068	8.040000	0.89188	2.070000	0.61991	0.459000	0.35465	TTC	TENM2	-	superfamily_ConA-like_lec_gl_sf		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	T	NM_001122679		167674062	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	C	C	167674062	T	C	167674062	3	2	129	1	0	0	0	0	1	0	0	0	10859	1609	56	5	6197	5	ODZ2	5	167674062	Missense_Mutation	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09	7626139	167674062	13241198	25	19911										
HLA-DRB5	3127	genome.wustl.edu	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tggaaggtccagtctccattCtgaatcaggcctgtggacac	11	11	3	1	rs139485758	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309																1	Substitution - Missense(1)	NS(1)											61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.Q178H	ENST00000374975.3	37	c.534	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	C	NM_002125		32487265	-1	no_errors	ENST00000374975	ensembl	human	known	70_37	missense	SNP	0.000	G	G	32487265	C	G	32487265	3	3	129	1	0	0	0	0	1	0	0	0	7229	912	32	1	282	1	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		32487265	138627802	26	19912										
GOPC	57120	genome.wustl.edu	37	chr6	117888189	117888189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	taaactacttcaaattcaatCtctcctctctaaaacaggaa	2	11	4	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr6:117888189C>T	ENST00000368498.2	-	8	1161	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Silent_p.E354E|DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000535237.1_Silent_p.E362E	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	362	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CAAATTCAATCTCTCCTCTCT	0.363			O	ROS1	glioblastoma																																			Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0													83	72	76					6																	117888189		2203	4300	6503	SO:0001819	synonymous_variant	57120			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.1086G>A	6.37:g.117888189C>T			A6NM30|Q59FS4|Q969U8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E362	ENST00000368498.2	37	c.1086	CCDS5117.1	6																																																																																			GOPC	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.363	GOPC-002	KNOWN	basic|CCDS	protein_coding	GOPC	HGNC	protein_coding	OTTHUMT00000041988.1	C	NM_020399		117888189	-1	no_errors	ENST00000368498	ensembl	human	known	70_37	silent	SNP	1.000	T	T	117888189	C	T	117888189	2	4	129	1	0	0	0	0	0	0	0	1	6592	912	32	1		1	GOPC	6	117888189	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	85400924	117888189	53226878	27	19913										
DNAH11	8701	genome.wustl.edu	37	chr7	21639564	21639564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	aacaattgaaaccggcaccgTtttttcaagcacaaatgatc	6	10	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:21639564T>C	ENST00000409508.3	+	15	2858	c.2827T>C	c.(2827-2829)Ttt>Ctt	p.F943L	DNAH11_ENST00000328843.6_Missense_Mutation_p.F943L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	943	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGGCACCGTTTTTTCAAGC	0.408									Kartagener syndrome																																								0													85	80	82					7																	21639564		1844	4086	5930	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2827T>C	7.37:g.21639564T>C	ENSP00000475939:p.Phe943Leu		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F943L	ENST00000409508.3	37	c.2827		7	.	.	.	.	.	.	.	.	.	.	T	0.796	-0.757279	0.03019	.	.	ENSG00000105877	ENST00000328843	T	0.16196	2.36	5.58	3.18	0.36537	.	0.443923	0.25558	N	0.029853	T	0.06234	0.0161	.	.	.	0.32208	N	0.576957	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	9	0.02654	T	1	.	6.6804	0.23117	0.0:0.1398:0.1307:0.7295	.	943	Q96DT5	DYH11_HUMAN	L	943	ENSP00000330671:F943L	ENSP00000330671:F943L	F	+	1	0	DNAH11	21606089	0.666000	0.27475	0.954000	0.39281	0.329000	0.28539	1.055000	0.30467	0.480000	0.27534	0.459000	0.35465	TTT	DNAH11	-	NULL		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	T	NM_003777		21639564	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	0.826	C	C	21639564	T	C	21639564	3	2	129	1	0	0	0	0	1	0	0	0	4609	1725	60	5	2885	5	DNAH11	7	21639564	Missense_Mutation	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09		21639564	137499099	28	19914										
TBX20	57057	genome.wustl.edu	37	chr7	35293127	35293127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	aggggtttgattgtgttctcCgtcgcctccttctccttaga	10	11	2	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:35293127C>T	ENST00000408931.3	-	1	631	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	35					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGTGTTCTCCGTCGCCTCCT	0.652																																																	0													53	48	50					7																	35293127		2202	4300	6502	SO:0001819	synonymous_variant	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.105G>A	7.37:g.35293127C>T			A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.T35	ENST00000408931.3	37	c.105	CCDS43568.1	7																																																																																			TBX20	-	NULL		0.652	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	C	NM_020417		35293127	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	silent	SNP	0.796	T	T	35293127	C	T	35293127	2	4	129	1	0	0	0	0	0	0	0	1	15686	639	23	2		2	TBX20	7	35293127	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	13653563	35293127	123845536	29	19915										
FLNC	2318	genome.wustl.edu	37	chr7	128494890	128494890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ctgtccattgctgtggagggTcctagcaaagcggagattgc	14	9	0	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:128494890T>C	ENST00000325888.8	+	42	7320	c.7059T>C	c.(7057-7059)ggT>ggC	p.G2353G	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.G2320G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2353					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTGGAGGGTCCTAGCAAAG	0.617																																																	0													88	98	94					7																	128494890		2055	4206	6261	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7059T>C	7.37:g.128494890T>C			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G2353	ENST00000325888.8	37	c.7059	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	T			128494890	1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	0.270	C	C	128494890	T	C	128494890	2	2	129	1	0	0	0	0	0	0	0	1	5953	1654	58	5		5	FLNC	7	128494890	Silent	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09	93201763	128494890	30643773	30	19916										
TNPO3	23534	genome.wustl.edu	37	chr7	128612587	128612587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	aatggcccactgtaagatagGgatgaccacttggctccgca	11	11	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:128612587G>T	ENST00000265388.5	-	19	2466	c.2323C>A	c.(2323-2325)Cct>Act	p.P775T	TNPO3_ENST00000471166.1_Missense_Mutation_p.P809T|TNPO3_ENST00000393245.1_Missense_Mutation_p.P809T|TNPO3_ENST00000482320.1_Missense_Mutation_p.P709T|TNPO3_ENST00000471234.1_Missense_Mutation_p.P711T|RN7SL306P_ENST00000492941.2_RNA			Q9Y5L0	TNPO3_HUMAN	transportin 3	775					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGTAAGATAGGGATGACCACT	0.488																																					Pancreas(147;583 2585 39696 52331)												0													106	90	95					7																	128612587		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2323C>A	7.37:g.128612587G>T	ENSP00000265388:p.Pro775Thr		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.P809T	ENST00000265388.5	37	c.2425	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227341	0.58668	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68479	-0.27;-0.27;-0.27;-0.33;-0.27	5.41	5.41	0.78517	Armadillo-type fold (1);	0.051363	0.85682	D	0.000000	T	0.56688	0.2002	L	0.42245	1.32	0.50632	D	0.999881	B;B;B;B	0.33413	0.094;0.411;0.015;0.009	B;B;B;B	0.30646	0.01;0.118;0.012;0.005	T	0.53968	-0.8363	10	0.10377	T	0.69	.	17.0431	0.86495	0.0:0.0:1.0:0.0	.	711;809;775;775	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	T	809;775;709;711;809	ENSP00000376936:P809T;ENSP00000265388:P775T;ENSP00000420089:P709T;ENSP00000418646:P711T;ENSP00000418267:P809T	ENSP00000265388:P775T	P	-	1	0	TNPO3	128399823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.676000	0.84012	2.686000	0.91538	0.655000	0.94253	CCT	TNPO3	-	superfamily_ARM-type_fold		0.488	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	G	NM_012470		128612587	-1	no_errors	ENST00000393245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128612587	G	T	128612587	3	4	129	1	0	0	0	0	1	0	0	0	16367	1232	43	4	464	4	TNPO3	7	128612587	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	117697	128612587	30526076	31	19917										
NSMAF	8439	genome.wustl.edu	37	chr8	59520362	59520362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	cgtgcctccttttgtagatgCggcggacatcttggagtgtt	13	9	1	1	rs199548636		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr8:59520362C>T	ENST00000038176.3	-	11	937	c.725G>A	c.(724-726)cGc>cAc	p.R242H	NSMAF_ENST00000427130.2_Missense_Mutation_p.R273H|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	242	GRAM.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.R242H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTGTAGATGCGGCGGACATC	0.443													C|||	1	0.000199681	8e-04	0	5008	,	,		19497	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											143	147	146					8																	59520362		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.725G>A	8.37:g.59520362C>T	ENSP00000038176:p.Arg242His		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R273H	ENST00000038176.3	37	c.818	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422484	0.62622	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.88586	-2.4;-2.4	5.18	4.31	0.51392	GRAM (2);PH-BEACH domain (1);	0.050607	0.85682	N	0.000000	D	0.93015	0.7777	M	0.72118	2.19	0.47698	D	0.999493	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.975;0.965;0.991	D	0.92550	0.6049	9	.	.	.	.	12.3688	0.55244	0.0:0.9218:0.0:0.0782	.	273;242;242	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	H	242;273	ENSP00000038176:R242H;ENSP00000411012:R273H	.	R	-	2	0	NSMAF	59682916	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	5.221000	0.65272	1.321000	0.45227	-0.140000	0.14226	CGC	NSMAF	-	pfam_GRAM,smart_GRAM		0.443	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	C	NM_003580		59520362	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59520362	C	T	59520362	3	4	129	1	0	0	0	0	1	0	0	0	10698	768	27	2	2112	2	NSMAF	8	59520362	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		59520362	86843660	32	19918										
SPAG6	9576	genome.wustl.edu	37	chr10	22634734	22634734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	agaccccaaaacatcgagacGctgcagaacgcgggtgagcc	12	13	0	4			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr10:22634734G>A	ENST00000376624.3	+	2	250	c.108G>A	c.(106-108)acG>acA	p.T36T	SPAG6_ENST00000376601.1_Silent_p.T36T|SPAG6_ENST00000376603.2_Silent_p.T36T|SPAG6_ENST00000313311.6_Silent_p.T36T|SPAG6_ENST00000538630.1_De_novo_Start_OutOfFrame	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	36					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						ACATCGAGACGCTGCAGAACG	0.682																																																	0													41	39	40					10																	22634734		2201	4300	6501	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.108G>A	10.37:g.22634734G>A			A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.T36	ENST00000376624.3	37	c.108	CCDS7139.1	10																																																																																			SPAG6	-	NULL		0.682	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	G			22634734	1	no_errors	ENST00000376603	ensembl	human	known	70_37	silent	SNP	0.093	A	A	22634734	G	A	22634734	2	1	129	1	0	0	0	0	0	0	0	1	15012	1074	38	2		2	SPAG6	10	22634734	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		22634734	112900013	33	19919										
NELL1	4745	genome.wustl.edu	37	chr11	20691274	20691274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gggaccctcgagagcgatgcCgatggatttgattttagttg	14	7	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:20691274C>T	ENST00000357134.5	+	1	157	c.5C>T	c.(4-6)cCg>cTg	p.P2L	RP11-701I24.3_ENST00000528795.1_RNA|NELL1_ENST00000298925.5_Missense_Mutation_p.P2L|NELL1_ENST00000532434.1_Missense_Mutation_p.P2L|NELL1_ENST00000325319.5_Missense_Mutation_p.P2L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	2					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGCGATGCCGATGGATTTG	0.597																																																	0													151	131	138					11																	20691274		2203	4300	6503	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.5C>T	11.37:g.20691274C>T	ENSP00000349654:p.Pro2Leu		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.P2L	ENST00000357134.5	37	c.5	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599046	0.28534	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;T;T;T	0.88975	-2.45;-1.18;-1.25;-1.09	3.68	-0.412	0.12367	.	0.087891	0.44688	N	0.000432	D	0.82861	0.5129	L	0.57536	1.79	0.28349	N	0.920998	B;B;B;B	0.25169	0.119;0.072;0.004;0.072	B;B;B;B	0.14578	0.011;0.007;0.002;0.005	T	0.74077	-0.3781	10	0.87932	D	0	-0.352	6.9013	0.24285	0.0:0.5907:0.0:0.4093	.	2;2;2;2	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	2	ENSP00000298925:P2L;ENSP00000349654:P2L;ENSP00000317837:P2L;ENSP00000437170:P2L	ENSP00000298925:P2L	P	+	2	0	NELL1	20647850	0.278000	0.24230	0.022000	0.16811	0.704000	0.40688	-0.094000	0.11094	-0.193000	0.10415	0.563000	0.77884	CCG	NELL1	-	NULL		0.597	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	C	NM_006157		20691274	1	no_errors	ENST00000357134	ensembl	human	known	70_37	missense	SNP	0.356	T	T	20691274	C	T	20691274	3	4	129	1	0	0	0	0	1	0	0	0	10357	652	23	2	7	2	NELL1	11	20691274	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		20691274	114315242	34	19920										
MS4A3	932	genome.wustl.edu	37	chr11	59828645	59828645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	acaaccccaatggcctcccaCgaagttgataatgcagagct	8	13	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:59828645C>T	ENST00000278865.3	+	2	85	c.12C>T	c.(10-12)caC>caT	p.H4H	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Silent_p.H4H|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Silent_p.H4H	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	4						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGCCTCCCACGAAGTTGATA	0.483																																																	0													77	78	78					11																	59828645		2201	4295	6496	SO:0001819	synonymous_variant	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.12C>T	11.37:g.59828645C>T			A8MTP8|Q8NHW2	Silent	SNP	pfam_CD20-like	p.H4	ENST00000278865.3	37	c.12	CCDS31567.1	11																																																																																			MS4A3	-	NULL		0.483	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A3	HGNC	protein_coding	OTTHUMT00000394417.1	C			59828645	1	no_errors	ENST00000278865	ensembl	human	known	70_37	silent	SNP	0.000	T	T	59828645	C	T	59828645	2	4	129	1	0	0	0	0	0	0	0	1	9884	535	19	2		2	MS4A3	11	59828645	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	39137371	59828645	75177871	35	19921										
C2CD3	26005	genome.wustl.edu	37	chr11	73849953	73849953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	aattaagactgtgctgtagtCcaaaggaagaatcctttatt	8	6	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:73849953C>A	ENST00000334126.7	-	5	993	c.767G>T	c.(766-768)gGa>gTa	p.G256V	C2CD3_ENST00000539061.1_Missense_Mutation_p.G256V|C2CD3_ENST00000313663.7_Missense_Mutation_p.G256V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	256					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGCTGTAGTCCAAAGGAAGA	0.403																																																	0													89	82	84					11																	73849953		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.767G>T	11.37:g.73849953C>A	ENSP00000334379:p.Gly256Val		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G256V	ENST00000334126.7	37	c.767		11	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808820	0.50421	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.09817	2.94;2.96	5.84	3.96	0.45880	.	0.368103	0.28583	N	0.014824	T	0.27866	0.0686	M	0.72118	2.19	0.53005	D	0.999968	D;D	0.69078	0.989;0.997	P;D	0.66602	0.783;0.945	T	0.01786	-1.1274	10	0.72032	D	0.01	-4.4485	10.5601	0.45140	0.0:0.8443:0.0:0.1557	.	256;256	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	256	ENSP00000334379:G256V;ENSP00000323339:G256V	ENSP00000289350:G256V	G	-	2	0	C2CD3	73527601	0.340000	0.24792	0.999000	0.59377	0.932000	0.56968	0.624000	0.24462	1.482000	0.48325	-0.150000	0.13652	GGA	C2CD3	-	NULL		0.403	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73849953	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.999	A	A	73849953	C	A	73849953	3	1	129	1	0	0	0	0	1	0	0	0	2159	855	30	3	5232	3	C2CD3	11	73849953	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	14021308	73849953	61156563	36	19922										
ZW10	9183	genome.wustl.edu	37	chr11	113618265	113618265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	actggtaccttcacagtgttAtgaatttctgaggtcattag	9	7	3	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:113618265A>C	ENST00000200135.3	-	9	1404	c.1260T>G	c.(1258-1260)caT>caG	p.H420Q		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	420					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCACAGTGTTATGAATTTCTG	0.358																																																	0													154	152	152					11																	113618265		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1260T>G	11.37:g.113618265A>C	ENSP00000200135:p.His420Gln		A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.H420Q	ENST00000200135.3	37	c.1260	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966940	0.74131	.	.	ENSG00000086827	ENST00000200135	T	0.44881	0.91	5.89	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.58487	-0.7628	10	0.24483	T	0.36	-13.2577	10.4876	0.44731	0.1497:0.0:0.8503:0.0	.	420	O43264	ZW10_HUMAN	Q	420	ENSP00000200135:H420Q	ENSP00000200135:H420Q	H	-	3	2	ZW10	113123475	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.655000	0.54460	1.477000	0.48234	-0.468000	0.05107	CAT	ZW10	-	pfam_RZZ-complex_Zw10		0.358	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	A	NM_004724		113618265	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113618265	A	C	113618265	3	2	129	1	0	0	0	0	1	0	0	0	18277	446	16	5	1111	5	ZW10	11	113618265	Missense_Mutation	SNP	A	TCGA-FU-A3EO-01A-11D-A20U-09	39768312	113618265	21388251	37	19923										
VWF	7450	genome.wustl.edu	37	chr12	6120958	6120958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ggcaaggtccagacgtccccGggctgcagaagaaaacagca	13	12	0	3	rs56981471	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr12:6120958G>A	ENST00000261405.5	-	34	5921	c.5667C>T	c.(5665-5667)ccC>ccT	p.P1889P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1889					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGACGTCCCCGGGCTGCAGAA	0.562													g|||	108	0.0215655	0.0726	0.013	5008	,	,		17272	0		0.003	False		,,,				2504	0																0								A		262,4088		7,248,1920	8	10	9		5667	-1	1	12	dbSNP_129	9	5,8479		0,5,4237	yes	coding-synonymous	VWF	NM_000552.3		7,253,6157	AA,AG,GG		0.0589,6.023,2.0804		1889/2814	6120958	267,12567	2175	4242	6417	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5667C>T	12.37:g.6120958G>A			Q8TCE8|Q99806	Silent	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P1889	ENST00000261405.5	37	c.5667	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	G	NM_000552		6120958	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	silent	SNP	0.981	A	A	6120958	G	A	6120958	2	1	129	1	0	0	0	0	0	0	0	1	17277	1103	39	2		2	VWF	12	6120958	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		6120958	127730937	38	19924										
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25398284	C	T	25398284	3	4	129	1	0	0	0	0	1	0	0	0	8458	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	19277326	25398284	108453611	39	19925										
OR4K1	79544	genome.wustl.edu	37	chr14	20404680	20404680	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	actcccttgttgaaccccatCatctactctctgaggaatga	6	13	3	3			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr14:20404680C>A	ENST00000285600.4	+	1	914	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAACCCCATCATCTACTCTC	0.423																																																	0													98	107	104					14																	20404680		2203	4300	6503	SO:0001819	synonymous_variant	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.855C>A	14.37:g.20404680C>A			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I285	ENST00000285600.4	37	c.855	CCDS32025.1	14																																																																																			OR4K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.423	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20404680	1	no_errors	ENST00000285600	ensembl	human	known	70_37	silent	SNP	0.994	A	A	20404680	C	A	20404680	2	1	129	1	0	0	0	0	0	0	0	1	11091	816	29	3		3	OR4K1	14	20404680	Silent	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		20404680	86944860	40	19926										
DACT1	51339	genome.wustl.edu	37	chr14	59112032	59112032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gtgaagaccaggcctcagggGcagtttgccgttccctctcc	12	14	2	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr14:59112032G>A	ENST00000335867.4	+	4	715	c.691G>A	c.(691-693)Gca>Aca	p.A231T	DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	231					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A231T(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCTCAGGGGCAGTTTGCCG	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											125	115	119					14																	59112032		2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.691G>A	14.37:g.59112032G>A	ENSP00000337439:p.Ala231Thr		A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.A231T	ENST00000335867.4	37	c.691	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	G	2.705	-0.269987	0.05716	.	.	ENSG00000165617	ENST00000335867	T	0.41758	0.99	5.41	2.55	0.30701	.	0.491785	0.21510	N	0.073384	T	0.16599	0.0399	N	0.10685	0.025	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.25012	-1.0144	10	0.08599	T	0.76	-2.0246	4.4329	0.11536	0.3943:0.0:0.4513:0.1544	.	231	Q9NYF0	DACT1_HUMAN	T	231	ENSP00000337439:A231T	ENSP00000337439:A231T	A	+	1	0	DACT1	58181785	0.344000	0.24827	0.957000	0.39632	0.988000	0.76386	0.460000	0.21924	0.332000	0.23536	0.563000	0.77884	GCA	DACT1	-	NULL		0.433	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	G	NM_016651		59112032	1	no_errors	ENST00000335867	ensembl	human	known	70_37	missense	SNP	0.142	A	A	59112032	G	A	59112032	3	1	129	1	0	0	0	0	1	0	0	0	4227	1203	42	4	705	4	DACT1	14	59112032	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	38707352	59112032	48237508	41	19927										
HSPA2	3306	genome.wustl.edu	37	chr14	65008081	65008081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tcacggggctcaatgtgctgCgcatcatcaacgagcccacg	11	14	4	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr14:65008081C>A	ENST00000394709.1	+	2	590	c.514C>A	c.(514-516)Cgc>Agc	p.R172S	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Missense_Mutation_p.R172S|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	172					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAATGTGCTGCGCATCATCAA	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)												0													54	56	55					14																	65008081		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.514C>A	14.37:g.65008081C>A	ENSP00000378199:p.Arg172Ser		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R172S	ENST00000394709.1	37	c.514	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339320	0.41398	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.03181	4.02;4.02	5.18	4.25	0.50352	.	0.000000	0.51477	U	0.000092	T	0.18923	0.0454	H	0.99634	4.67	0.47094	D	0.999311	P	0.34629	0.46	B	0.33690	0.168	T	0.41502	-0.9505	10	0.87932	D	0	-10.6877	15.0382	0.71767	0.1428:0.8572:0.0:0.0	.	172	P54652	HSP72_HUMAN	S	172	ENSP00000378199:R172S;ENSP00000247207:R172S	ENSP00000247207:R172S	R	+	1	0	HSPA2	64077834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.950000	0.40323	2.407000	0.81776	0.563000	0.77884	CGC	HSPA2	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	C			65008081	1	no_errors	ENST00000247207	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65008081	C	A	65008081	3	1	129	1	0	0	0	0	1	0	0	0	7431	768	27	2	516	2	HSPA2	14	65008081	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	5896049	65008081	42341459	42	19928										
ANXA2	302	genome.wustl.edu	37	chr15	60674634	60674634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	cccatatgcacttgggggtgTagagtgctgaggttaaaaga	14	6	0	3			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr15:60674634T>C	ENST00000396024.3	-	4	214	c.55A>G	c.(55-57)Aca>Gca	p.T19A	ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000421017.2_Missense_Mutation_p.T19A|ANXA2_ENST00000332680.4_Missense_Mutation_p.T37A|ANXA2_ENST00000451270.2_Missense_Mutation_p.T19A	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	19	S100A10-binding site. {ECO:0000255}.				angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTTGGGGGTGTAGAGTGCTGA	0.378																																																	0													73	63	66					15																	60674634		2203	4300	6503	SO:0001583	missense	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.55A>G	15.37:g.60674634T>C	ENSP00000379342:p.Thr19Ala		Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV	p.T37A	ENST00000396024.3	37	c.109	CCDS10175.1	15	.	.	.	.	.	.	.	.	.	.	T	6.267	0.417439	0.11870	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.66	4.52	0.55395	.	0.606427	0.16391	U	0.216479	T	0.06508	0.0167	N	0.08118	0	0.34959	D	0.752021	B;D;B	0.56035	0.001;0.974;0.0	B;D;B	0.67725	0.001;0.953;0.0	T	0.49952	-0.8884	10	0.15066	T	0.55	.	8.6944	0.34287	0.0:0.087:0.0:0.913	.	19;37;19	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	A	19;37;19;19	ENSP00000379342:T19A;ENSP00000346032:T37A;ENSP00000411352:T19A;ENSP00000387545:T19A	ENSP00000346032:T37A	T	-	1	0	ANXA2	58461926	0.957000	0.32711	0.880000	0.34516	0.975000	0.68041	2.091000	0.41691	0.956000	0.37904	0.528000	0.53228	ACA	ANXA2	-	prints_AnnexinII		0.378	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2	HGNC	protein_coding	OTTHUMT00000256135.1	T	NM_001002857		60674634	-1	no_errors	ENST00000332680	ensembl	human	known	70_37	missense	SNP	0.948	C	C	60674634	T	C	60674634	3	2	129	1	0	0	0	0	1	0	0	0	718	1638	57	5	1008	5	ANXA2	15	60674634	Missense_Mutation	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09		60674634	41856758	43	19929										
ALPK3	57538	genome.wustl.edu	37	chr15	85402524	85402524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	agcagtttcctgatgcctccGgtagcctgaagctgtggtgc	13	11	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr15:85402524G>A	ENST00000258888.5	+	7	4641	c.4474G>A	c.(4474-4476)Ggt>Agt	p.G1492S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1492	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGATGCCTCCGGTAGCCTGAA	0.582																																																	0													92	79	83					15																	85402524		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4474G>A	15.37:g.85402524G>A	ENSP00000258888:p.Gly1492Ser		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G1492S	ENST00000258888.5	37	c.4474	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.479366	0.96307	.	.	ENSG00000136383	ENST00000258888	T	0.40225	1.04	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.76170	2.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.67795	-0.5578	10	0.62326	D	0.03	-21.5733	16.9141	0.86147	0.0:0.0:1.0:0.0	.	1492	Q96L96	ALPK3_HUMAN	S	1492	ENSP00000258888:G1492S	ENSP00000258888:G1492S	G	+	1	0	ALPK3	83203528	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	6.176000	0.71955	2.664000	0.90586	0.655000	0.94253	GGT	ALPK3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85402524	1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85402524	G	A	85402524	3	1	129	1	0	0	0	0	1	0	0	0	546	1116	39	2	4500	2	ALPK3	15	85402524	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	24727890	85402524	17128868	44	19930										
TXNDC11	51061	genome.wustl.edu	37	chr16	11773493	11773493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gctggaggctgcttatttctGctctcagtttctggatctct	10	10	4	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr16:11773493G>A	ENST00000356957.3	-	13	2623	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.A812V			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	839					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTTATTTCTGCTCTCAGTTT	0.592																																																	0													71	65	67					16																	11773493		2197	4300	6497	SO:0001583	missense	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2516C>T	16.37:g.11773493G>A	ENSP00000349439:p.Ala839Val		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A839V	ENST00000356957.3	37	c.2516		16	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469700	0.43839	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.15487	2.64;2.42	5.63	4.65	0.58169	.	0.534308	0.20362	N	0.093826	T	0.19967	0.0480	L	0.60455	1.87	0.09310	N	0.999999	P;P	0.41848	0.698;0.763	B;B	0.39840	0.276;0.311	T	0.07328	-1.0778	10	0.42905	T	0.14	-15.6316	12.8158	0.57665	0.081:0.0:0.919:0.0	.	839;812	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	V	839;812	ENSP00000349439:A839V;ENSP00000283033:A812V	ENSP00000283033:A812V	A	-	2	0	TXNDC11	11680994	0.901000	0.30685	0.140000	0.22221	0.994000	0.84299	2.361000	0.44160	1.316000	0.45131	0.655000	0.94253	GCA	TXNDC11	-	NULL		0.592	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	G	NM_015914		11773493	-1	no_errors	ENST00000356957	ensembl	human	known	70_37	missense	SNP	0.159	A	A	11773493	G	A	11773493	3	1	129	1	0	0	0	0	1	0	0	0	16823	1319	46	4	445	4	TXNDC11	16	11773493	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		11773493	78581260	45	19931										
GPR56	9289	genome.wustl.edu	37	chr16	57689404	57689406	+	In_Frame_Del	DEL	CTC	CTC	-													0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gcggggaggctgagaagagaCtcctcctggtggacttcagc							TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr16:57689404_57689406delCTC	ENST00000388812.4	+	6	1302_1304	c.862_864delCTC	c.(862-864)ctcdel	p.L290del	GPR56_ENST00000562631.1_In_Frame_Del_p.L290del|GPR56_ENST00000567835.1_In_Frame_Del_p.L290del|GPR56_ENST00000562558.1_In_Frame_Del_p.L290del|GPR56_ENST00000568909.1_In_Frame_Del_p.L290del|GPR56_ENST00000379696.3_In_Frame_Del_p.L290del|GPR56_ENST00000456916.1_In_Frame_Del_p.L290del|GPR56_ENST00000544297.1_In_Frame_Del_p.L115del|GPR56_ENST00000568908.1_In_Frame_Del_p.L290del|GPR56_ENST00000538815.1_In_Frame_Del_p.L290del|GPR56_ENST00000540164.2_In_Frame_Del_p.L290del|GPR56_ENST00000379694.4_In_Frame_Del_p.L120del|GPR56_ENST00000388813.5_In_Frame_Del_p.L290del			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	290					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGAGAAGAGACTCCTCCTGGTGG	0.576																																																	0																																										SO:0001651	inframe_deletion	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.862_864delCTC	16.37:g.57689407_57689409delCTC	ENSP00000373464:p.Leu290del		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	In_Frame_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like	p.L290in_frame_del	ENST00000388812.4	37	c.862_864	CCDS32460.1	16																																																																																			GPR56	-	NULL		0.576	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	CTC			57689406	1	no_errors	ENST00000379696	ensembl	human	known	70_37	in_frame_del	DEL	0.976:0.981:0.964	-	-	57689406	CTC	-	57689404	7	5	129	1	0	1	0	1	0	0	0	0	6719	565	20	0	895	0	GPR56	16	57689404	In_Frame_Del	DEL	CTC	TCGA-FU-A3EO-01A-11D-A20U-09	45915911	57689404	32665349	46	19932										
RPA1	6117	genome.wustl.edu	37	chr17	1798346	1798346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tttccagaatgccaacttccGatctttcatattcagagtca	5	11	4	2	rs556414801		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr17:1798346G>T	ENST00000254719.5	+	16	1813	c.1703G>T	c.(1702-1704)cGa>cTa	p.R568L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	568					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GCCAACTTCCGATCTTTCATA	0.453								Nucleotide excision repair (NER)																																									0													169	175	173					17																	1798346		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1703G>T	17.37:g.1798346G>T	ENSP00000254719:p.Arg568Leu		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1	p.R568L	ENST00000254719.5	37	c.1703	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918963	0.33908	.	.	ENSG00000132383	ENST00000254719	T	0.46819	0.86	5.63	5.63	0.86233	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.271739	0.41712	D	0.000833	T	0.46229	0.1382	M	0.62154	1.92	0.35764	D	0.820371	P	0.40211	0.707	B	0.39562	0.303	T	0.58901	-0.7554	10	0.41790	T	0.15	-10.4733	12.0311	0.53397	0.0869:0.0:0.9131:0.0	.	568	P27694	RFA1_HUMAN	L	568	ENSP00000254719:R568L	ENSP00000254719:R568L	R	+	2	0	RPA1	1745096	0.991000	0.36638	0.271000	0.24616	0.364000	0.29643	3.123000	0.50453	2.664000	0.90586	0.650000	0.86243	CGA	RPA1	-	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1		0.453	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	G	NM_002945		1798346	1	no_errors	ENST00000254719	ensembl	human	known	70_37	missense	SNP	0.874	T	T	1798346	G	T	1798346	3	4	129	1	0	0	0	0	1	0	0	0	13566	1058	37	3	1765	3	RPA1	17	1798346	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		1798346	79396864	47	19933										
APOH	350	genome.wustl.edu	37	chr17	64210633	64210633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gagcatcctctgtatagctaCacttcttttccttatttttg	5	10	2	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr17:64210633C>T	ENST00000205948.6	-	7	957	c.920G>A	c.(919-921)tGt>tAt	p.C307Y		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	307	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGTATAGCTACACTTCTTTTC	0.398																																					Melanoma(155;624 1882 16869 48804 51309)												0													188	161	170					17																	64210633		2203	4300	6503	SO:0001583	missense	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.920G>A	17.37:g.64210633C>T	ENSP00000205948:p.Cys307Tyr		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.C307Y	ENST00000205948.6	37	c.920	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	c	17.78	3.474134	0.63737	.	.	ENSG00000091583	ENST00000205948	T	0.46819	0.86	5.5	5.5	0.81552	Complement control module (2);Beta-2-glycoprotein-1 fifth domain (2);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69636	-0.5092	10	0.35671	T	0.21	.	18.2454	0.89984	0.0:1.0:0.0:0.0	.	307	P02749	APOH_HUMAN	Y	307	ENSP00000205948:C307Y	ENSP00000205948:C307Y	C	-	2	0	APOH	61641095	1.000000	0.71417	0.971000	0.41717	0.715000	0.41141	5.401000	0.66326	2.601000	0.87937	0.650000	0.86243	TGT	APOH	-	pfam_Sushi_2,superfamily_Complement_control_module		0.398	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	C	NM_000042		64210633	-1	no_errors	ENST00000205948	ensembl	human	known	70_37	missense	SNP	0.992	T	T	64210633	C	T	64210633	3	4	129	1	0	0	0	0	1	0	0	0	804	478	17	4	125	4	APOH	17	64210633	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	62412287	64210633	16984577	48	19934										
OSBPL1A	114876	genome.wustl.edu	37	chr18	21750344	21750344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	cttatcattttttttgtaagCgtcaaacgtggcagggtcaa	9	7	3	0	rs146787158		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr18:21750344C>T	ENST00000319481.3	-	24	2571	c.2365G>A	c.(2365-2367)Gct>Act	p.A789T	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A276T|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A407T|RNA5SP452_ENST00000363004.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	789					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTTGTAAGCGTCAAACGTG	0.383																																																	0								C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	249	224	233		1219,826,2365	5.9	1	18	dbSNP_134	233	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	OSBPL1A	NM_001242508.1,NM_018030.4,NM_080597.3	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	407/569,276/438,789/951	21750344	2,13004	2203	4300	6503	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2365G>A	18.37:g.21750344C>T	ENSP00000320291:p.Ala789Thr		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.A789T	ENST00000319481.3	37	c.2365	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733503	0.48939	0.0	2.33E-4	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.45276	0.9;0.96;0.92	5.89	5.89	0.94794	.	0.047946	0.85682	D	0.000000	T	0.29652	0.0740	N	0.20807	0.61	0.80722	D	1	P	0.48834	0.916	B	0.35312	0.2	T	0.09640	-1.0665	10	0.44086	T	0.13	-21.5042	20.2435	0.98387	0.0:1.0:0.0:0.0	.	789	Q9BXW6	OSBL1_HUMAN	T	789;276;407	ENSP00000320291:A789T;ENSP00000382372:A276T;ENSP00000349545:A407T	ENSP00000320291:A789T	A	-	1	0	OSBPL1A	20004342	0.995000	0.38212	0.982000	0.44146	0.867000	0.49689	3.274000	0.51631	2.784000	0.95788	0.650000	0.86243	GCT	OSBPL1A	-	pfam_Oxysterol-bd		0.383	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	C	NM_080597		21750344	-1	no_errors	ENST00000319481	ensembl	human	known	70_37	missense	SNP	0.997	T	T	21750344	C	T	21750344	3	4	129	1	0	0	0	0	1	0	0	0	11301	768	27	2	507	2	OSBPL1A	18	21750344	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		21750344	56326904	49	19935										
LMAN1	3998	genome.wustl.edu	37	chr18	57000397	57000397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tttgatgtcaatgaagtgctGtgttgtctcatagacgcctc	10	8	2	3			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr18:57000397G>T	ENST00000251047.5	-	11	2017	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	434					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATGAAGTGCTGTGTTGTCTCA	0.433																																																	0													87	81	83					18																	57000397		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1300C>A	18.37:g.57000397G>T	ENSP00000251047:p.Gln434Lys		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily	p.Q434K	ENST00000251047.5	37	c.1300	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946871	0.34377	.	.	ENSG00000074695	ENST00000251047	T	0.55930	0.49	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.61703	1.905	0.80722	D	1	B	0.32350	0.366	B	0.24269	0.052	T	0.45585	-0.9251	10	0.21014	T	0.42	-16.4785	19.8132	0.96556	0.0:0.0:1.0:0.0	.	434	P49257	LMAN1_HUMAN	K	434	ENSP00000251047:Q434K	ENSP00000251047:Q434K	Q	-	1	0	LMAN1	55151377	1.000000	0.71417	0.966000	0.40874	0.052000	0.14988	9.434000	0.97515	2.785000	0.95823	0.655000	0.94253	CAG	LMAN1	-	NULL		0.433	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	G	NM_005570		57000397	-1	no_errors	ENST00000251047	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57000397	G	T	57000397	3	4	129	1	0	0	0	0	1	0	0	0	8857	1386	48	4	244	4	LMAN1	18	57000397	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	35250053	57000397	21076851	50	19936										
HAUS5	23354	genome.wustl.edu	37	chr19	36103778	36103778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ccgtggcggcccgggccccgGaatcgacgctgcgcaggtga	17	15	0	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:36103778G>A	ENST00000203166.5	+	1	107	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Missense_Mutation_p.E28K	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	28					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCGGGCCCCGGAATCGACGCT	0.682																																																	0													14	24	21					19																	36103778		1447	3151	4598	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.82G>A	19.37:g.36103778G>A	ENSP00000439056:p.Glu28Lys		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.E28K	ENST00000203166.5	37	c.82	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599945	0.46318	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33438	1.41;1.41	4.29	4.29	0.51040	.	0.114294	0.56097	D	0.000023	T	0.52322	0.1727	M	0.69823	2.125	0.41623	D	0.98897	D	0.67145	0.996	D	0.77557	0.99	T	0.54735	-0.8249	10	0.66056	D	0.02	-33.4015	12.5411	0.56169	0.0:0.0:1.0:0.0	.	28	O94927	HAUS5_HUMAN	K	28	ENSP00000439056:E28K;ENSP00000444373:E28K	ENSP00000439056:E28K	E	+	1	0	HAUS5	40795618	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	3.605000	0.54088	2.668000	0.90789	0.655000	0.94253	GAA	HAUS5	-	NULL		0.682	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	G			36103778	1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	0.999	A	A	36103778	G	A	36103778	3	1	129	1	0	0	0	0	1	0	0	0	6989	1175	41	1	84	1	HAUS5	19	36103778	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		36103778	23025205	51	19937										
HRC	3270	genome.wustl.edu	37	chr19	49657003	49657003	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ctgctctgaactttcatcgtCttcctcatgggagccggggt	11	12	4	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:49657003C>T	ENST00000252825.4	-	1	1678	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	HRC_ENST00000595625.1_Missense_Mutation_p.D498N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	498					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTTCATCGTCTTCCTCATGG	0.552																																					Melanoma(37;75 1097 24567 25669 30645)												0													128	111	117					19																	49657003		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1492G>A	19.37:g.49657003C>T	ENSP00000252825:p.Asp498Asn		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.D498N	ENST00000252825.4	37	c.1492	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888752	0.33348	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.60548	0.18	2.63	2.63	0.31362	.	.	.	.	.	T	0.48750	0.1517	L	0.27053	0.805	0.27082	N	0.963051	P	0.51791	0.948	P	0.49528	0.614	T	0.29640	-1.0005	9	0.31617	T	0.26	-3.9595	8.8912	0.35434	0.0:1.0:0.0:0.0	.	498	P23327	SRCH_HUMAN	N	498;197	ENSP00000252825:D498N	ENSP00000252825:D498N	D	-	1	0	HRC	54348815	0.041000	0.20044	0.502000	0.27614	0.114000	0.19823	1.451000	0.35145	1.799000	0.52666	0.462000	0.41574	GAC	HRC	-	NULL		0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657003	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49657003	C	T	49657003	3	4	129	1	0	0	0	0	1	0	0	0	7372	913	32	1	631	1	HRC	19	49657003	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	13553225	49657003	9471980	52	19938										
SIGLEC10	89790	genome.wustl.edu	37	chr19	51918459	51918459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	cacggagaggctgagagagaCgtgctgggagcccagtgggt	19	8	0	3	rs149017451	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:51918459C>T	ENST00000339313.5	-	7	1422	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V388I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V378I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V346I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V436I|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V353I|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V378I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V436I|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V288I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	436	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTGAGAGAGACGTGCTGGGAG	0.662													c|||	2	0.000399361	0.0015	0	5008	,	,		18467	0		0	False		,,,				2504	0																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	12,4394		0,12,2191	72	67	69		1132,1306,1162,1132,1057,862,1306	-5.3	0	19	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	29,29,29,29,29,29,29	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	benign,benign,benign,benign,benign,benign,benign	378/640,436/603,388/555,378/545,353/520,288/455,436/698	51918459	12,12994	2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1306G>A	19.37:g.51918459C>T	ENSP00000345243:p.Val436Ile		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V436I	ENST00000339313.5	37	c.1306	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	3.438	-0.114727	0.06881	0.002724	0.0	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	4.71	-5.27	0.02763	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.928840	0.02193	N	0.061509	T	0.05593	0.0147	N	0.17631	0.505	0.09310	N	1	B;B;B;P;B;B;B;B	0.38335	0.099;0.209;0.128;0.627;0.105;0.322;0.276;0.358	B;B;B;B;B;B;B;B	0.32393	0.055;0.104;0.055;0.087;0.032;0.056;0.022;0.145	T	0.29305	-1.0016	10	0.14252	T	0.57	.	1.2317	0.01944	0.1271:0.2826:0.2516:0.3386	.	388;346;436;288;436;378;378;436	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	436;353;288;436;378;346;378;388;436	ENSP00000342389:V436I;ENSP00000396742:V353I;ENSP00000395475:V288I;ENSP00000348646:V436I;ENSP00000408387:V378I;ENSP00000431444:V346I;ENSP00000389132:V378I;ENSP00000414324:V388I;ENSP00000345243:V436I	ENSP00000345243:V436I	V	-	1	0	SIGLEC10	56610271	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-3.093000	0.00608	-0.414000	0.07495	0.462000	0.41574	GTC	SIGLEC10	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.662	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51918459	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.000	T	T	51918459	C	T	51918459	3	4	129	1	0	0	0	0	1	0	0	0	14336	536	19	2	807	2	SIGLEC10	19	51918459	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09	2261456	51918459	7210524	53	19939										
SBK2	646643	genome.wustl.edu	37	chr19	56042597	56042597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gccgactcgatgccaatgccGtaggccgtcacgatggctga	13	13	1	1	rs200066533	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642																																																	0													48	55	52					19																	56042597		2165	4254	6419	SO:0001819	synonymous_variant	646643				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	19.37:g.56042597G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y123	ENST00000413299.1	37	c.369	CCDS42631.1	19																																																																																			SBK2	-	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		0.642	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBK2	HGNC	protein_coding	OTTHUMT00000341919.1	G	NM_001101401		56042597	-1	no_errors	ENST00000344158	ensembl	human	known	70_37	silent	SNP	0.995	A	A	56042597	G	A	56042597	2	1	129	1	0	0	0	0	0	0	0	1	13891	1140	40	2		2	SBK2	19	56042597	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	4124138	56042597	3086386	54	19940										
RIN2	54453	genome.wustl.edu	37	chr20	19977442	19977442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ccctgaggcagtggcacaaaCggagaaccaccaaccggacc	11	15	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr20:19977442C>T	ENST00000255006.6	+	11	2616	c.2467C>T	c.(2467-2469)Cgg>Tgg	p.R823W	RIN2_ENST00000440354.2_Missense_Mutation_p.R341W|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	774	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GTGGCACAAACGGAGAACCAC	0.557																																																	0													69	82	78					20																	19977442		2081	4207	6288	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2467C>T	20.37:g.19977442C>T	ENSP00000255006:p.Arg823Trp		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R823W	ENST00000255006.6	37	c.2467	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955088	0.73902	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.27402	2.64;1.67	5.74	1.15	0.20763	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.72894	2.215	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54931	-0.8219	9	.	.	.	-30.6228	15.5099	0.75772	0.6074:0.3926:0.0:0.0	.	341;774	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	W	823;341	ENSP00000255006:R823W;ENSP00000391239:R341W	.	R	+	1	2	RIN2	19925442	0.991000	0.36638	0.944000	0.38274	0.979000	0.70002	1.483000	0.35497	0.291000	0.22468	0.655000	0.94253	CGG	RIN2	-	NULL		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	C			19977442	1	no_errors	ENST00000255006	ensembl	human	known	70_37	missense	SNP	0.779	T	T	19977442	C	T	19977442	3	4	129	1	0	0	0	0	1	0	0	0	13402	527	19	2	2358	2	RIN2	20	19977442	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		19977442	43048078	55	19941										
RPL3	6122	genome.wustl.edu	37	chr22	39708974	39708974	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	ttcttcctttgcaattcggtCtttcttcagtggtccctgtg	8	11	4	0	rs145936719		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr22:39708974C>T	ENST00000216146.4	-	10	1356	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.D343N	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	395					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GCAATTCGGTCTTTCTTCAGT	0.493																																																	0													72	68	69					22																	39708974		2203	4300	6503	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1183G>A	22.37:g.39708974C>T	ENSP00000346001:p.Asp395Asn		B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.D395N	ENST00000216146.4	37	c.1183	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276423	0.80580	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.34472	1.36;1.36	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.77616	2.38	0.80722	D	1	B;P	0.49358	0.005;0.923	B;P	0.44811	0.006;0.461	T	0.56032	-0.8046	10	0.56958	D	0.05	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	395;346	P39023;B3KS36	RL3_HUMAN;.	N	343;395	ENSP00000386101:D343N;ENSP00000346001:D395N	ENSP00000346001:D395N	D	-	1	0	RPL3	38038920	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.310000	0.78947	2.576000	0.86940	0.563000	0.77884	GAC	RPL3	-	NULL		0.493	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	C	NM_000967		39708974	-1	no_errors	ENST00000216146	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39708974	C	T	39708974	3	4	129	1	0	0	0	0	1	0	0	0	13609	913	32	1	32	1	RPL3	22	39708974	Missense_Mutation	SNP	C	TCGA-FU-A3EO-01A-11D-A20U-09		39708974	11595592	56	19942										
CACNA1I	8911	genome.wustl.edu	37	chr22	40037064	40037064	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gcggggcgccaggacctcaaTgccagcggcctctgtgtcaa	14	14	3	0			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr22:40037064T>G	ENST00000402142.3	+	6	933	c.933T>G	c.(931-933)aaT>aaG	p.N311K	CACNA1I_ENST00000336649.4_Missense_Mutation_p.N311K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.N311K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.N311K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.N311K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.N311K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	311					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGACCTCAATGCCAGCGGCC	0.617																																																	0													62	68	66					22																	40037064		2049	4187	6236	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.933T>G	22.37:g.40037064T>G	ENSP00000385019:p.Asn311Lys		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.N311K	ENST00000402142.3	37	c.933	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613894	0.66672	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96830	-4.13;-4.08;-4.12;-4.07;-4.14;-4.05	5.21	-2.68	0.06041	Ion transport (1);	0.116923	0.56097	D	0.000022	D	0.94036	0.8089	N	0.12182	0.205	0.36317	D	0.858016	P;P;P;D	0.89917	0.951;0.843;0.898;1.0	P;P;P;D	0.87578	0.718;0.479;0.643;0.998	D	0.90829	0.4715	10	0.30078	T	0.28	.	12.5088	0.55995	0.0:0.2976:0.0:0.7024	.	311;311;311;311	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	311	ENSP00000385019:N311K;ENSP00000384093:N311K;ENSP00000383887:N311K;ENSP00000385680:N311K;ENSP00000337829:N311K;ENSP00000383028:N311K	ENSP00000337829:N311K	N	+	3	2	CACNA1I	38367010	0.000000	0.05858	0.953000	0.39169	0.774000	0.43823	-3.087000	0.00610	-0.721000	0.04929	-1.013000	0.02462	AAT	CACNA1I	-	pfam_Ion_trans_dom		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	T	NM_001003406		40037064	1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	0.921	G	G	40037064	T	G	40037064	3	3	129	1	0	0	0	0	1	0	0	0	2551	1461	51	5	955	5	CACNA1I	22	40037064	Missense_Mutation	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09	328090	40037064	11267502	57	19943										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50664366	50664366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	agggacgtcggaccaacagaGgtaatgctgccaaaggggat	15	8	0	1	rs368583248		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr22:50664366G>A	ENST00000248846.5	-	10	1944	c.1840C>T	c.(1840-1842)Ctc>Ttc	p.L614F	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.L614F			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	614					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACCAACAGAGGTAATGCTGC	0.587																																																	0								G	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	76	81	79		1840	3	1	22		79	0,8600		0,0,4300	no	missense	TUBGCP6	NM_020461.3	22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	614/1820	50664366	1,13005	2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1840C>T	22.37:g.50664366G>A	ENSP00000248846:p.Leu614Phe		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.L614F	ENST00000248846.5	37	c.1840	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101890	0.56183	2.27E-4	0.0	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08807	3.05;3.05	5.19	3.01	0.34805	.	0.643042	0.15625	N	0.252713	T	0.17831	0.0428	L	0.46157	1.445	0.33324	D	0.567683	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.968	T	0.16424	-1.0403	10	0.66056	D	0.02	.	6.097	0.20025	0.1005:0.0:0.5064:0.3931	.	614;614	B2RWN4;Q96RT7	.;GCP6_HUMAN	F	614	ENSP00000248846:L614F;ENSP00000397387:L614F	ENSP00000248846:L614F	L	-	1	0	TUBGCP6	49006493	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	5.263000	0.65507	1.197000	0.43143	0.462000	0.41574	CTC	TUBGCP6	-	pfam_Spc97_Spc98		0.587	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50664366	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50664366	G	A	50664366	3	1	129	1	0	0	0	0	1	0	0	0	16801	1000	35	4	3683	4	TUBGCP6	22	50664366	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	10627302	50664366	640200	58	19944										
MAGEH1	28986	genome.wustl.edu	37	chrX	55479014	55479014	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	accacccctgaagaagcctcGagcactgcccaagcacaaaa	7	16	0	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:55479014G>A	ENST00000342972.1	+	1	477	c.207G>A	c.(205-207)tcG>tcA	p.S69S	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	69	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AAGAAGCCTCGAGCACTGCCC	0.582																																																	0													38	35	36					X																	55479014		2203	4300	6503	SO:0001819	synonymous_variant	28986			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.207G>A	X.37:g.55479014G>A			B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S69	ENST00000342972.1	37	c.207	CCDS14369.1	X																																																																																			MAGEH1	-	pfam_MAGE		0.582	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	G	NM_014061		55479014	1	no_errors	ENST00000342972	ensembl	human	known	70_37	silent	SNP	0.006	A	A	55479014	G	A	55479014	2	1	129	1	0	0	0	0	0	0	0	1	9211	1045	37	1		1	MAGEH1	23	55479014	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09		55479014	99791546	59	19945										
XKRX	402415	genome.wustl.edu	37	chrX	100169813	100169813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	atctgggcaccacttctccaGaacttaatccagggctcaaa	7	13	3	1			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:100169813G>A	ENST00000372956.2	-	3	1468	c.864C>T	c.(862-864)ttC>ttT	p.F288F	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Silent_p.F301F			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CACTTCTCCAGAACTTAATCC	0.498																																																	0													88	81	83					X																	100169813		2203	4300	6503	SO:0001819	synonymous_variant	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.864C>T	X.37:g.100169813G>A			B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	pfam_Transport_prot_XK	p.F301	ENST00000372956.2	37	c.903	CCDS14476.2	X																																																																																			XKRX	-	pfam_Transport_prot_XK		0.498	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	G	NM_212559		100169813	-1	no_errors	ENST00000328526	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100169813	G	A	100169813	2	1	129	1	0	0	0	0	0	0	0	1	17470	933	33	1		1	XKRX	23	100169813	Silent	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	44690799	100169813	55100747	60	19946										
RNF128	79589	genome.wustl.edu	37	chrX	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tagagacatgtgaatgtggcGtttatggattagcttcacca	11	6	1	2	rs146627932		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398																																																	0								G	ILE/VAL	1,3834		0,1,1631,571	174	147	156		157	5	1	X	dbSNP_134	156	1,6727		0,1,2427,1872	yes	missense	RNF128	NM_024539.3	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		53/403	105937389	2,10561	2203	4300	6503	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.157G>A	X.37:g.105937389G>A	ENSP00000316127:p.Val53Ile		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V53I	ENST00000324342.3	37	c.157	CCDS14520.1	X	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979554	0.18812	2.61E-4	1.49E-4	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.30981	1.51;2.91	6.02	4.99	0.66335	.	.	.	.	.	T	0.13200	0.0320	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.27262	0.078	T	0.09618	-1.0666	9	0.17369	T	0.5	.	7.8295	0.29334	0.0971:0.2696:0.6333:0.0	.	53	Q8TEB7-2	.	I	26;53	ENSP00000412610:V26I;ENSP00000316127:V53I	ENSP00000316127:V53I	V	+	1	0	RNF128	105824045	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	1.486000	0.35530	2.550000	0.86006	0.594000	0.82650	GTT	RNF128	-	NULL		0.398	RNF128-002	KNOWN	basic|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057805.1	G	NM_024539		105937389	1	no_errors	ENST00000324342	ensembl	human	known	70_37	missense	SNP	0.981	A	A	105937389	G	A	105937389	3	1	129	1	0	0	0	0	1	0	0	0	13466	1145	40	2	159	2	RNF128	23	105937389	Missense_Mutation	SNP	G	TCGA-FU-A3EO-01A-11D-A20U-09	5767576	105937389	49333171	61	19947										
THOC2	57187	genome.wustl.edu	37	chrX	122765673	122765673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	gctcagattagatgctaaaaAcccaccaaactgcaccaggg	8	12	1	2			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:122765673A>C	ENST00000245838.8	-	22	2378	c.2347T>G	c.(2347-2349)Ttt>Gtt	p.F783V	THOC2_ENST00000491737.1_Missense_Mutation_p.F668V|THOC2_ENST00000355725.4_Missense_Mutation_p.F783V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	783					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GATGCTAAAAACCCACCAAAC	0.323																																																	0													147	138	141					X																	122765673		1833	4082	5915	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2347T>G	X.37:g.122765673A>C	ENSP00000245838:p.Phe783Val		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.F783V	ENST00000245838.8	37	c.2347	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740991	0.89573	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	D	0.85492	0.5709	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.88660	0.3188	9	0.72032	D	0.01	-17.0397	15.3733	0.74584	1.0:0.0:0.0:0.0	.	708;783	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	783;783;668;708	.	ENSP00000245838:F783V	F	-	1	0	THOC2	122593354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.320000	0.96346	2.014000	0.59158	0.481000	0.45027	TTT	THOC2	-	NULL		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	A			122765673	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122765673	A	C	122765673	3	2	129	1	0	0	0	0	1	0	0	0	15895	43	2	5	2502	5	THOC2	23	122765673	Missense_Mutation	SNP	A	TCGA-FU-A3EO-01A-11D-A20U-09	16828284	122765673	32504887	62	19948										
MTCP1NB	100272147	genome.wustl.edu	37	chrX	154290189	154290189	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112903225806452	7	0.490621704025292	1.14317266467455	3.51117318435754	0.900300816501934	0.314685314685315	0.563792808707049	0	tcctgaacagacgacagatcTtcccttgggatactgagcac	9	12	1	4			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:154290189T>G	ENST00000369484.3	-	3	814	c.136A>C	c.(136-138)Aga>Cga	p.R46R	CMC4_ENST00000369479.1_Silent_p.R46R	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	46					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											ACGACAGATCTTCCCTTGGGA	0.438																																																	0													173	146	155					X																	154290189		2203	4300	6503	SO:0001819	synonymous_variant	100272147				CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"mature T-cell proliferation 1, isoform p8"		"mature T-cell proliferation 1 neighbor", "C-x(9)-C motif containing 4 homolog (S. cerevisiae)"	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.136A>C	X.37:g.154290189T>G			Q5HYP9	Silent	SNP	pfam_MTCP1,superfamily_MTCP1	p.R46	ENST00000369484.3	37	c.136	CCDS14764.1	X																																																																																			CMC4	-	pfam_MTCP1,superfamily_MTCP1		0.438	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	CMC4	HGNC	protein_coding	OTTHUMT00000037822.2	T	NM_001018024.2		154290189	-1	no_errors	ENST00000369479	ensembl	human	known	70_37	silent	SNP	1.000	G	G	154290189	T	G	154290189	2	3	129	1	0	0	0	0	0	0	0	1	9939	1617	56	5		5	MTCP1NB	23	154290189	Silent	SNP	T	TCGA-FU-A3EO-01A-11D-A20U-09	31524516	154290189	980371	63	19949										
DNAJC16	23341	genome.wustl.edu	37	chr1	15855639	15855639	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agcatttcctggcagttcttGatagttctggttctgatcct	9	9	3	2	rs147329664		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:15855639G>C	ENST00000375847.3	+	2	203	c.39G>C	c.(37-39)ttG>ttC	p.L13F	DNAJC16_ENST00000375849.1_Missense_Mutation_p.L13F|CASP9_ENST00000469637.1_5'Flank|DNAJC16_ENST00000375838.1_Missense_Mutation_p.L13F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	13					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGCAGTTCTTGATAGTTCTGG	0.448																																																	0													167	156	160					1																	15855639		2203	4300	6503	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.39G>C	1.37:g.15855639G>C	ENSP00000365007:p.Leu13Phe		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L13F	ENST00000375847.3	37	c.39	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535817	0.64972	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.74106	-0.79;-0.81;-0.79	5.41	5.41	0.78517	Heat shock protein DnaJ, N-terminal (1);	0.071541	0.56097	D	0.000024	T	0.77948	0.4207	L	0.41356	1.27	0.29770	N	0.834851	D;D	0.69078	0.994;0.997	P;P	0.59643	0.808;0.861	T	0.72510	-0.4271	10	0.23891	T	0.37	-18.1811	16.704	0.85367	0.0:0.0:1.0:0.0	.	13;13	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	F	13	ENSP00000365007:L13F;ENSP00000364998:L13F;ENSP00000365009:L13F	ENSP00000364998:L13F	L	+	3	2	DNAJC16	15728226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.152000	0.58111	2.546000	0.85860	0.563000	0.77884	TTG	DNAJC16	-	superfamily_DnaJ_N		0.448	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	G	NM_015291		15855639	1	no_errors	ENST00000375847	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15855639	G	C	15855639	3	2	130	1	0	0	0	0	1	0	0	0	4645	1281	45	1	41	1	DNAJC16	1	15855639	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		15855639	233394982	1	19950										
SDHB	6390	genome.wustl.edu	37	chr1	17371366	17371366	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggagctgtggctgcagctgtCtgggctcctcgggaggcctg	18	11	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:17371366C>G	ENST00000375499.3	-	2	240	c.90G>C	c.(88-90)caG>caC	p.Q30H	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	30					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CTGCAGCTGTCTGGGCTCCTC	0.423			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	0													65	65	65					1																	17371366		2203	4300	6503	SO:0001583	missense	6390	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.90G>C	1.37:g.17371366C>G	ENSP00000364649:p.Gln30His		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.Q30H	ENST00000375499.3	37	c.90	CCDS176.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627473	0.46944	.	.	ENSG00000117118	ENST00000375499	D	0.99032	-5.35	5.65	2.8	0.32819	.	0.125911	0.56097	D	0.000034	D	0.95204	0.8445	N	0.08118	0	0.58432	D	0.999997	P	0.50819	0.939	B	0.43701	0.428	D	0.92520	0.6024	10	0.23891	T	0.37	-12.1293	10.8156	0.46573	0.0:0.8136:0.0:0.1863	.	30	P21912	DHSB_HUMAN	H	30	ENSP00000364649:Q30H	ENSP00000364649:Q30H	Q	-	3	2	SDHB	17243953	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.171000	0.31896	0.490000	0.27771	0.655000	0.94253	CAG	SDHB	-	NULL		0.423	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	C	NM_003000		17371366	-1	no_errors	ENST00000375499	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17371366	C	G	17371366	3	3	130	1	0	0	0	0	1	0	0	0	13995	912	32	1	780	1	SDHB	1	17371366	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1515727	17371366	231879255	2	19951										
USP48	84196	genome.wustl.edu	37	chr1	22021695	22021695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tttgatgggatatcttttgcCgctttgttccaccattgctc	8	10	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:22021695C>T	ENST00000308271.9	-	23	3395	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	USP48_ENST00000400301.1_Intron|USP48_ENST00000374732.3_Intron|USP48_ENST00000529637.1_Missense_Mutation_p.R928Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	916					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATCTTTTGCCGCTTTGTTCC	0.378																																																	0													133	126	128					1																	22021695		2202	4300	6502	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2747G>A	1.37:g.22021695C>T	ENSP00000309262:p.Arg916Gln		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.R916Q	ENST00000308271.9	37	c.2747	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541217	0.85917	.	.	ENSG00000090686	ENST00000308271;ENST00000529637	T;T	0.05199	3.49;3.48	5.95	5.95	0.96441	.	0.114590	0.56097	D	0.000023	T	0.23370	0.0565	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.994	D;P;D;P	0.75484	0.949;0.637;0.986;0.637	T	0.00010	-1.2450	10	0.45353	T	0.12	.	18.957	0.92662	0.0:1.0:0.0:0.0	.	928;916;41;916	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5	.;.;.;UBP48_HUMAN	Q	916;928	ENSP00000309262:R916Q;ENSP00000431949:R928Q	ENSP00000309262:R916Q	R	-	2	0	USP48	21894282	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	CGG	USP48	-	NULL		0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22021695	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22021695	C	T	22021695	3	4	130	1	0	0	0	0	1	0	0	0	17110	652	23	2	380	2	USP48	1	22021695	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	4650329	22021695	227228926	3	19952										
CELA3A	10136	genome.wustl.edu	37	chr1	22329579	22329579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcccctacagctggccctggCaggtaagagcaatagcagct	11	13	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:22329579C>T	ENST00000290122.3	+	2	146	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	CELA3A_ENST00000374663.1_Nonsense_Mutation_p.Q43*|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	43	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGCCCTGGCAGGTAAGAGC	0.597																																																	0													50	72	65					1																	22329579		2167	4291	6458	SO:0001587	stop_gained	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.127C>T	1.37:g.22329579C>T	ENSP00000290122:p.Gln43*		B1AQ53|Q9BRW4	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q43*	ENST00000290122.3	37	c.127	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802900	0.90623	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.782	10.6777	0.45796	0.0:1.0:0.0:0.0	.	.	.	.	X	43;43;59	.	ENSP00000290122:Q43X	Q	+	1	0	CELA3A	22202166	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.991000	0.76232	1.934000	0.56057	0.400000	0.26472	CAG	CELA3A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.597	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	C	NM_005747		22329579	1	no_errors	ENST00000290122	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	22329579	C	T	22329579	4	4	130	1	0	0	0	0	0	1	0	0	3218	711	25	4	133	4	CELA3A	1	22329579	Nonsense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	307884	22329579	226921042	4	19953										
HNRNPR	10236	genome.wustl.edu	37	chr1	23640126	23640126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tctttcgagttttccaaattCagaaaatgacttttccaata	4	8	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:23640126C>T	ENST00000374612.1	-	9	1210	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	HNRNPR_ENST00000302271.6_Missense_Mutation_p.E363K|HNRNPR_ENST00000374616.3_Missense_Mutation_p.E366K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E224K|HNRNPR_ENST00000426846.2_Missense_Mutation_p.E203K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E265K|HNRNPR_ENST00000476660.1_5'Flank|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E325K	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	363	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTCCAAATTCAGAAAATGAC	0.328																																																	0													65	71	69					1																	23640126		2200	4296	6496	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1087G>A	1.37:g.23640126C>T	ENSP00000363741:p.Glu363Lys		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E366K	ENST00000374612.1	37	c.1096	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569995	0.65765	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105374	0.64402	D	0.000003	T	0.12944	0.0314	N	0.05124	-0.11	0.45704	D	0.998613	B;P;P;P;B;B	0.42248	0.024;0.475;0.774;0.667;0.032;0.442	B;P;B;P;B;B	0.47251	0.089;0.542;0.356;0.474;0.04;0.219	T	0.18903	-1.0322	10	0.51188	T	0.08	.	18.7377	0.91761	0.0:1.0:0.0:0.0	.	203;325;224;343;363;366	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	366;363;363;325;203	ENSP00000363745:E366K;ENSP00000363741:E363K;ENSP00000304405:E363K;ENSP00000392799:E325K;ENSP00000415042:E203K	ENSP00000304405:E363K	E	-	1	0	HNRNPR	23512713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.143000	0.58051	2.774000	0.95407	0.585000	0.79938	GAA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.328	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23640126	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23640126	C	T	23640126	3	4	130	1	0	0	0	0	1	0	0	0	7292	835	29	1	826	1	HNRNPR	1	23640126	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1310547	23640126	225610495	5	19954										
ABCA4	24	genome.wustl.edu	37	chr1	94466477	94466477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggtacacagtgcctcacattCttccatgctgtggggcagga	12	11	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:94466477C>G	ENST00000370225.3	-	47	6480	c.6394G>C	c.(6394-6396)Gaa>Caa	p.E2132Q	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Missense_Mutation_p.E251Q|ABCA4_ENST00000536513.1_Missense_Mutation_p.E402Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2132	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCTCACATTCTTCCATGCTG	0.572																																																	0													130	103	112					1																	94466477		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6394G>C	1.37:g.94466477C>G	ENSP00000359245:p.Glu2132Gln		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E2132Q	ENST00000370225.3	37	c.6394	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.080738	0.94050	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.99519	-6.07;-6.07;-6.07	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050069	0.85682	D	0.000000	D	0.99664	0.9875	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98212	1.0473	10	0.87932	D	0	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	2132	P78363	ABCA4_HUMAN	Q	924;2132;402;251	ENSP00000359245:E2132Q;ENSP00000439707:E402Q;ENSP00000443203:E251Q	ENSP00000359245:E2132Q	E	-	1	0	ABCA4	94239065	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.762000	0.85270	2.779000	0.95612	0.655000	0.94253	GAA	ABCA4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt		0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94466477	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94466477	C	G	94466477	3	3	130	1	0	0	0	0	1	0	0	0	34	922	32	1	443	1	ABCA4	1	94466477	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	70826351	94466477	154784144	6	19955										
VAV3	10451	genome.wustl.edu	37	chr1	108315446	108315446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	acagtcatagagatcttcttCatcttccacaagggtttcac	6	11	6	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:108315446C>T	ENST00000370056.4	-	5	740	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.E156K|VAV3_ENST00000371846.4_Missense_Mutation_p.E91K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	156					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGATCTTCTTCATCTTCCACA	0.388																																																	0													163	151	155					1																	108315446		2203	4300	6503	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.466G>A	1.37:g.108315446C>T	ENSP00000359073:p.Glu156Lys		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.E156K	ENST00000370056.4	37	c.466	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417791|3.417791	0.62622|0.62622	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.28895|.	1.59;1.59;1.59|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Calponin homology domain (1);|.	0.103295|.	0.64402|.	D|.	0.000004|.	T|T	0.64249|0.64249	0.2581|0.2581	L|L	0.50333|0.50333	1.59|1.59	0.51233|0.51233	D|D	0.999915|0.999915	B;P;P|.	0.39071|.	0.033;0.653;0.658|.	B;B;B|.	0.37888|.	0.066;0.26;0.24|.	T|T	0.57940|0.57940	-0.7724|-0.7724	10|5	0.56958|.	D|.	0.05|.	.|.	19.4308|19.4308	0.94765|0.94765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;156;156|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	K|I	156;156;91|150	ENSP00000359073:E156K;ENSP00000432540:E156K;ENSP00000360912:E91K|.	ENSP00000359073:E156K|.	E|M	-|-	1|3	0|0	VAV3|VAV3	108116969|108116969	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.359000|0.359000	0.29487|0.29487	6.538000|6.538000	0.73852|0.73852	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|ATG	VAV3	-	superfamily_CH-domain		0.388	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	C	NM_006113		108315446	-1	no_errors	ENST00000370056	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108315446	C	T	108315446	3	4	130	1	0	0	0	0	1	0	0	0	17164	835	29	1	2194	1	VAV3	1	108315446	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	13848969	108315446	140935175	7	19956										
RIT1	6016	genome.wustl.edu	37	chr1	155874548	155874548	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agctgtatccaaaatgtccaGattggcaggctcatcatcaa	8	10	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:155874548G>C	ENST00000368323.3	-	4	415	c.211C>G	c.(211-213)Ctg>Gtg	p.L71V	RIT1_ENST00000539040.1_Missense_Mutation_p.L35V|RIT1_ENST00000368322.3_Missense_Mutation_p.L88V	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	71					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			AAAATGTCCAGATTGGCAGGC	0.423																																																	0													98	90	93					1																	155874548		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.211C>G	1.37:g.155874548G>C	ENSP00000357306:p.Leu71Val		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L71V	ENST00000368323.3	37	c.211	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084401	0.55861	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	D;D;D	0.83837	-1.77;-1.77;-1.77	4.88	3.97	0.46021	Small GTP-binding protein domain (1);	0.000000	0.56097	D	0.000026	D	0.86694	0.5994	M	0.78344	2.41	0.58432	D	0.999999	D	0.56746	0.977	P	0.61592	0.891	D	0.88699	0.3214	10	0.87932	D	0	.	13.0293	0.58833	0.0789:0.0:0.9211:0.0	.	71	Q92963	RIT1_HUMAN	V	71;35;88	ENSP00000357306:L71V;ENSP00000441950:L35V;ENSP00000357305:L88V	ENSP00000357305:L88V	L	-	1	2	RIT1	154141172	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	1.560000	0.36331	1.293000	0.44690	0.313000	0.20887	CTG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	G	NM_006912		155874548	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155874548	G	C	155874548	3	2	130	1	0	0	0	0	1	0	0	0	13416	933	33	1	460	1	RIT1	1	155874548	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	47559102	155874548	93376073	8	19957										
CD1D	912	genome.wustl.edu	37	chr1	158151385	158151385	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	actcggacaccgtccgctctCtgaagccttggtcccagggc	11	16	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:158151385C>T	ENST00000368171.3	+	3	701	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	68					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CGTCCGCTCTCTGAAGCCTTG	0.617																																																	0													78	86	83					1																	158151385		2203	4300	6503	SO:0001819	synonymous_variant	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.202C>T	1.37:g.158151385C>T			D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L68	ENST00000368171.3	37	c.202	CCDS1173.1	1																																																																																			CD1D	-	superfamily_MHC_I/II-like_Ag-recog		0.617	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	C	NM_001766		158151385	1	no_errors	ENST00000368171	ensembl	human	known	70_37	silent	SNP	0.025	T	T	158151385	C	T	158151385	2	4	130	1	0	0	0	0	0	0	0	1	2982	912	32	1		1	CD1D	1	158151385	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2276837	158151385	91099236	9	19958										
OR6K3	391114	genome.wustl.edu	37	chr1	158687490	158687490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cagagagttgagcacagagcCggggggtcatgatcatttga	15	7	2	5			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:158687490C>T	ENST00000368146.1	-	1	463	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	OR6K3_ENST00000368145.1_Missense_Mutation_p.R139Q			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGCACAGAGCCGGGGGGTCAT	0.517																																																	0													85	93	90					1																	158687490		2203	4300	6503	SO:0001583	missense	391114			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.464G>A	1.37:g.158687490C>T	ENSP00000357128:p.Arg155Gln		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R155Q	ENST00000368146.1	37	c.464		1	.	.	.	.	.	.	.	.	.	.	C	5.830	0.337343	0.11013	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01527	4.8;4.8	4.04	-3.86	0.04230	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	L	0.37561	1.115	0.09310	N	1	B	0.27166	0.17	B	0.24394	0.053	T	0.40156	-0.9578	9	0.27082	T	0.32	.	7.4801	0.27400	0.0:0.3141:0.1224:0.5636	.	155	Q8NGY3	OR6K3_HUMAN	Q	139;155	ENSP00000357127:R139Q;ENSP00000357128:R155Q	ENSP00000357127:R139Q	R	-	2	0	OR6K3	156954114	.	.	0.000000	0.03702	0.199000	0.23934	.	.	-0.731000	0.04862	-0.495000	0.04643	CGG	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.517	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		C			158687490	-1	no_errors	ENST00000368146	ensembl	human	known	70_37	missense	SNP	0.000	T	T	158687490	C	T	158687490	3	4	130	1	0	0	0	0	1	0	0	0	11227	652	23	2	533	2	OR6K3	1	158687490	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	536105	158687490	90563131	10	19959										
PFDN2	5202	genome.wustl.edu	37	chr1	161072116	161072116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tctccaactcagctgctttgGatgccaggcctcgctgttcc	9	15	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:161072116G>T	ENST00000368010.3	-	2	209	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	42					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTGCTTTGGATGCCAGGCC	0.537																																																	0													119	101	107					1																	161072116		2203	4300	6503	SO:0001583	missense	5202			AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"prefoldin 2"			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.125C>A	1.37:g.161072116G>T	ENSP00000356989:p.Ser42Tyr		Q9P0P7|Q9UN05	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.S42Y	ENST00000368010.3	37	c.125	CCDS1217.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742066	0.69418	.	.	ENSG00000143256	ENST00000368010	T	0.45668	0.89	5.02	5.02	0.67125	Prefoldin beta-like (1);Prefoldin (1);	0.104348	0.64402	D	0.000002	T	0.59418	0.2192	M	0.81179	2.53	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	T	0.63611	-0.6598	10	0.62326	D	0.03	-5.7967	15.881	0.79205	0.0:0.0:1.0:0.0	.	42	Q9UHV9	PFD2_HUMAN	Y	42	ENSP00000356989:S42Y	ENSP00000356989:S42Y	S	-	2	0	PFDN2	159338740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.653000	0.83643	2.608000	0.88229	0.462000	0.41574	TCC	PFDN2	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.537	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN2	HGNC	protein_coding	OTTHUMT00000077100.1	G	NM_012394		161072116	-1	no_errors	ENST00000368010	ensembl	human	known	70_37	missense	SNP	1.000	T	T	161072116	G	T	161072116	3	4	130	1	0	0	0	0	1	0	0	0	11780	1174	41	3	351	3	PFDN2	1	161072116	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2384626	161072116	88178505	11	19960										
DDR2	4921	genome.wustl.edu	37	chr1	162740113	162740113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cttctcggaggatgctggatGatgaaatgacagtcagcctt	12	8	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:162740113G>A	ENST00000367922.3	+	13	1753	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DDR2_ENST00000367921.3_Missense_Mutation_p.D439N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	439					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATGCTGGATGATGAAATGAC	0.478																																					NSCLC(161;314 2006 8283 19651 23192)												0													222	200	207					1																	162740113		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1315G>A	1.37:g.162740113G>A	ENSP00000356899:p.Asp439Asn		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D439N	ENST00000367922.3	37	c.1315	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.512363	0.96402	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	T;T;T	0.75260	-0.92;-0.92;-0.92	5.79	5.79	0.91817	.	0.044796	0.85682	D	0.000000	T	0.71264	0.3319	M	0.67953	2.075	0.38270	D	0.942131	P	0.49358	0.923	P	0.47470	0.548	T	0.68629	-0.5358	9	0.23891	T	0.37	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	439	Q16832	DDR2_HUMAN	N	439;439;49	ENSP00000356899:D439N;ENSP00000356898:D439N;ENSP00000417030:D49N	ENSP00000356898:D439N	D	+	1	0	DDR2	161006737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	2.733000	0.93635	0.655000	0.94253	GAT	DDR2	-	NULL		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	G	NM_006182		162740113	1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	1.000	A	A	162740113	G	A	162740113	3	1	130	1	0	0	0	0	1	0	0	0	4342	1290	45	1	1353	1	DDR2	1	162740113	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	1667997	162740113	86510508	12	19961										
FMO2	2327	genome.wustl.edu	37	chr1	171173052	171173052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gggtcatgagccgtatctctGaagatggctatccttgggac	13	9	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:171173052G>A	ENST00000209929.7	+	6	834	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	FMO2_ENST00000441535.1_Missense_Mutation_p.E226K|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	226					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCGTATCTCTGAAGATGGCTA	0.468																																																	0													133	104	114					1																	171173052		2203	4300	6503	SO:0001583	missense	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.676G>A	1.37:g.171173052G>A	ENSP00000209929:p.Glu226Lys		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.E226K	ENST00000209929.7	37	c.676	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433473	0.62955	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.53640	0.61;0.61	6.13	4.27	0.50696	.	0.481200	0.23732	N	0.045106	T	0.18800	0.0451	N	0.22421	0.69	0.36196	D	0.850418	B	0.10296	0.003	B	0.16289	0.015	T	0.04065	-1.0980	10	0.52906	T	0.07	-15.5254	12.1424	0.54005	0.1401:0.0:0.8599:0.0	.	226	Q99518	FMO2_HUMAN	K	226	ENSP00000209929:E226K;ENSP00000405905:E226K	ENSP00000209929:E226K	E	+	1	0	FMO2	169439676	0.681000	0.27614	0.953000	0.39169	0.836000	0.47400	1.219000	0.32479	0.930000	0.37217	0.650000	0.86243	GAA	FMO2	-	pfam_Flavin_mOase-like		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	G	NM_001460		171173052	1	no_errors	ENST00000209929	ensembl	human	known	70_37	missense	SNP	0.953	A	A	171173052	G	A	171173052	3	1	130	1	0	0	0	0	1	0	0	0	5973	1291	45	1	694	1	FMO2	1	171173052	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	8432939	171173052	78077569	13	19962										
KIAA1804	84451	genome.wustl.edu	37	chr1	233497990	233497990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aagaggaagggcaagtttaaGagaagtcgtttaaagctcaa	12	4	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:233497990G>C	ENST00000366624.3	+	5	1764	c.1503G>C	c.(1501-1503)aaG>aaC	p.K501N	MLK4_ENST00000366623.3_Missense_Mutation_p.K501N	NM_032435.2	NP_115811.2																					GCAAGTTTAAGAGAAGTCGTT	0.413																																																	0													90	88	89					1																	233497990		2203	4300	6503	SO:0001583	missense	84451																														ENST00000366624.3:c.1503G>C	1.37:g.233497990G>C	ENSP00000355583:p.Lys501Asn			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.K501N	ENST00000366624.3	37	c.1503	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117834	0.37339	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.12774	2.65;2.65	4.82	1.94	0.25998	.	0.130532	0.48767	D	0.000162	T	0.12817	0.0311	L	0.39898	1.24	0.80722	D	1	B;B	0.28933	0.228;0.086	B;B	0.35607	0.206;0.135	T	0.08046	-1.0741	10	0.72032	D	0.01	.	7.7559	0.28923	0.4135:0.0:0.5865:0.0	.	501;501	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	N	501	ENSP00000355582:K501N;ENSP00000355583:K501N	ENSP00000355582:K501N	K	+	3	2	RP5-862P8.2	231564613	1.000000	0.71417	0.618000	0.29105	0.965000	0.64279	1.667000	0.37471	0.246000	0.21394	0.655000	0.94253	AAG	MLK4	-	pirsf_MAPKKK9/10/11		0.413	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	G			233497990	1	no_errors	ENST00000366624	ensembl	human	known	70_37	missense	SNP	0.997	C	C	233497990	G	C	233497990	3	2	130	1	0	0	0	0	1	0	0	0	8279	933	33	1	1521	1	KIAA1804	1	233497990	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	62324938	233497990	15752631	14	19963										
NID1	4811	genome.wustl.edu	37	chr1	236208917	236208917	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	atggaactgcagaccatcctCaggataaaggaaaatggcat	10	8	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:236208917C>A	ENST00000264187.6	-	3	674	c.592G>T	c.(592-594)Gag>Tag	p.E198*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E198*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	198	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGACCATCCTCAGGATAAAGG	0.443																																																	0													77	70	72					1																	236208917		2203	4300	6503	SO:0001587	stop_gained	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.592G>T	1.37:g.236208917C>A	ENSP00000264187:p.Glu198*		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Nonsense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E198*	ENST00000264187.6	37	c.592	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.878543	0.97904	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	5.81	4.9	0.64082	.	0.336949	0.38778	N	0.001565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.6609	0.68870	0.0:0.9304:0.0:0.0696	.	.	.	.	X	198	.	ENSP00000264187:E198X	E	-	1	0	NID1	234275540	0.996000	0.38824	0.985000	0.45067	0.980000	0.70556	1.769000	0.38522	1.465000	0.48006	0.561000	0.74099	GAG	NID1	-	pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom		0.443	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	C	NM_002508		236208917	-1	no_errors	ENST00000264187	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	236208917	C	A	236208917	4	1	130	1	0	0	0	0	0	1	0	0	10438	835	29	3	3223	3	NID1	1	236208917	Nonsense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2710927	236208917	13041704	15	19964										
GREM2	64388	genome.wustl.edu	37	chr1	240656728	240656728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttccgggcttccgccaccttCaccagcaccgccaccaggaa	8	19	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:240656728C>T	ENST00000318160.4	-	2	314	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	16					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGCCACCTTCACCAGCACCG	0.612																																																	0													10	12	11					1																	240656728		2181	4259	6440	SO:0001819	synonymous_variant	64388			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"protein related to DAN and cerberus"	608832	"gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 2"			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.48G>A	1.37:g.240656728C>T			Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.V16	ENST00000318160.4	37	c.48	CCDS31070.1	1																																																																																			GREM2	-	pirsf_Gremlin_precursor		0.612	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	C	NM_022469		240656728	-1	no_errors	ENST00000318160	ensembl	human	known	70_37	silent	SNP	0.993	T	T	240656728	C	T	240656728	2	4	130	1	0	0	0	0	0	0	0	1	6782	813	29	1		1	GREM2	1	240656728	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	4447811	240656728	8593893	16	19965										
DPYSL5	56896	genome.wustl.edu	37	chr2	27165544	27165544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	acggcgtcttcatgtgcgccGagggcaccggcaagttctgt	14	12	3	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:27165544G>A	ENST00000288699.6	+	11	1524	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E456K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	456					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTGCGCCGAGGGCACCGG	0.597											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66	62	63					2																	27165544		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1366G>A	2.37:g.27165544G>A	ENSP00000288699:p.Glu456Lys	792	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.E456K	ENST00000288699.6	37	c.1366	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547510	0.65311	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85013	-1.93;-1.93	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	L	0.45137	1.4	0.51012	D	0.999906	B	0.15141	0.012	B	0.12156	0.007	T	0.74297	-0.3711	10	0.22109	T	0.4	-37.3033	19.4349	0.94788	0.0:0.0:1.0:0.0	.	456	Q9BPU6	DPYL5_HUMAN	K	456	ENSP00000288699:E456K;ENSP00000385549:E456K	ENSP00000288699:E456K	E	+	1	0	DPYSL5	27019048	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	6.431000	0.73395	2.894000	0.99253	0.655000	0.94253	GAG	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.597	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	G	NM_020134		27165544	1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	0.999	A	A	27165544	G	A	27165544	3	1	130	1	0	0	0	0	1	0	0	0	4760	1059	37	1	1404	1	DPYSL5	2	27165544	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		27165544	216033829	17	19966										
EHD3	30845	genome.wustl.edu	37	chr2	31483537	31483537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gagtggtgctgaacaaagctGaccagatcgagacgcagcag	14	9	0	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:31483537G>A	ENST00000322054.5	+	4	949	c.664G>A	c.(664-666)Gac>Aac	p.D222N	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	222	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAACAAAGCTGACCAGATCGA	0.552																																																	0													101	90	94					2																	31483537		2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.664G>A	2.37:g.31483537G>A	ENSP00000327116:p.Asp222Asn		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.D222N	ENST00000322054.5	37	c.664	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.279084	0.95489	.	.	ENSG00000013016	ENST00000322054	D	0.99732	-6.57	5.15	5.15	0.70609	.	0.086699	0.85682	D	0.000000	D	0.99375	0.9780	M	0.87758	2.905	0.80722	D	1	P	0.41450	0.75	B	0.40134	0.32	D	0.99910	1.1197	10	0.87932	D	0	-39.3112	18.813	0.92065	0.0:0.0:1.0:0.0	.	222	Q9NZN3	EHD3_HUMAN	N	222	ENSP00000327116:D222N	ENSP00000327116:D222N	D	+	1	0	EHD3	31337041	1.000000	0.71417	0.938000	0.37757	0.962000	0.63368	9.648000	0.98483	2.667000	0.90743	0.561000	0.74099	GAC	EHD3	-	NULL		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	G	NM_014600		31483537	1	no_errors	ENST00000322054	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31483537	G	A	31483537	3	1	130	1	0	0	0	0	1	0	0	0	4989	1290	45	1	678	1	EHD3	2	31483537	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	4317993	31483537	211715836	18	19967										
ZNF638	27332	genome.wustl.edu	37	chr2	71577290	71577290	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttttcacatgctgatgcccaGaagatgaagagacttccaac	8	10	1	5			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:71577290G>C	ENST00000409544.1	+	2	1836	c.1206G>C	c.(1204-1206)caG>caC	p.Q402H	ZNF638_ENST00000355812.3_Missense_Mutation_p.Q402H|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q402H|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q402H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	402					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATGCCCAGAAGATGAAGA	0.403																																																	0													137	136	136					2																	71577290		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1206G>C	2.37:g.71577290G>C	ENSP00000386433:p.Gln402His		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Q402H	ENST00000409544.1	37	c.1206	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412347	0.42817	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74737	-0.29;-0.87;0.29;-0.28;1.28;1.28	5.85	4.98	0.66077	.	0.061195	0.64402	D	0.000004	T	0.77818	0.4187	L	0.27053	0.805	0.37901	D	0.931045	D;D;D;D;D	0.71674	0.995;0.995;0.998;0.996;0.995	D;D;D;D;D	0.80764	0.989;0.989;0.994;0.986;0.989	T	0.82202	-0.0574	10	0.72032	D	0.01	-7.0111	12.774	0.57437	0.079:0.0:0.921:0.0	.	508;402;402;402;402	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	H	402;508;402;402;402;402	ENSP00000386669:Q402H;ENSP00000438189:Q508H;ENSP00000348066:Q402H;ENSP00000367033:Q402H;ENSP00000264447:Q402H;ENSP00000386433:Q402H	ENSP00000264447:Q402H	Q	+	3	2	ZNF638	71430798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.709000	0.54853	1.490000	0.48466	0.655000	0.94253	CAG	ZNF638	-	NULL		0.403	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71577290	1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71577290	G	C	71577290	3	2	130	1	0	0	0	0	1	0	0	0	18085	933	33	1	1208	1	ZNF638	2	71577290	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	40093753	71577290	171622083	19	19968										
ALMS1	7840	genome.wustl.edu	37	chr2	73675141	73675141	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tactcaatccaacttgaagtCaggcatcactaccactcctg	5	14	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:73675141C>T	ENST00000264448.6	+	8	1595	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S495L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S453L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	495					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACTTGAAGTCAGGCATCACT	0.358																																																	0													138	121	126					2																	73675141		1905	4122	6027	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1484C>T	2.37:g.73675141C>T	ENSP00000264448:p.Ser495Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.S495L	ENST00000264448.6	37	c.1484	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053241	0.36181	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18016	3.13;3.13;2.24	3.99	3.99	0.46301	.	1.339750	0.05640	N	0.583148	T	0.12092	0.0294	N	0.08118	0	0.18873	N	0.999989	B;B	0.30281	0.275;0.275	B;B	0.30782	0.12;0.12	T	0.15549	-1.0433	10	0.59425	D	0.04	.	11.8925	0.52637	0.0:1.0:0.0:0.0	.	453;495	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	L	453;495;495	ENSP00000386627:S453L;ENSP00000264448:S495L;ENSP00000366944:S495L	ENSP00000264448:S495L	S	+	2	0	ALMS1	73528649	0.028000	0.19301	0.288000	0.24862	0.599000	0.36880	0.955000	0.29188	2.515000	0.84797	0.655000	0.94253	TCA	ALMS1	-	NULL		0.358	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73675141	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.397	T	T	73675141	C	T	73675141	3	4	130	1	0	0	0	0	1	0	0	0	535	838	29	1	1514	1	ALMS1	2	73675141	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2097851	73675141	169524232	20	19969										
INO80B	83444	genome.wustl.edu	37	chr2	74684521	74684521	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgctgccgctgcctgtagctGagggctgcccacctcccgcc	12	18	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:74684521G>A	ENST00000233331.7	+	5	695	c.601G>A	c.(601-603)Gag>Aag	p.E201K	WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000409917.1_Intron|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	201					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCCTGTAGCTGAGGGCTGCCC	0.672																																																	0													11	12	11					2																	74684521		2184	4272	6456	SO:0001583	missense	83444			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.601G>A	2.37:g.74684521G>A	ENSP00000233331:p.Glu201Lys			Missense_Mutation	SNP	pfam_PAPA1,pfam_Znf_HIT	p.E201K	ENST00000233331.7	37	c.601	CCDS1942.2	2	.	.	.	.	.	.	.	.	.	.	G	0.470	-0.885083	0.02511	.	.	ENSG00000115274	ENST00000233331;ENST00000409493	T;T	0.44083	1.01;0.93	4.3	1.38	0.22167	.	0.326341	0.21081	N	0.080483	T	0.15565	0.0375	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10222	-1.0639	10	0.07482	T	0.82	-6.1206	4.2627	0.10749	0.0963:0.1536:0.5932:0.1568	.	219;186;201	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	K	201;206	ENSP00000233331:E201K;ENSP00000386937:E206K	ENSP00000233331:E201K	E	+	1	0	INO80B	74538029	0.596000	0.26866	0.657000	0.29651	0.016000	0.09150	1.178000	0.31981	1.048000	0.40298	-0.379000	0.06801	GAG	INO80B	-	NULL		0.672	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	HGNC	protein_coding	OTTHUMT00000252223.2	G	NM_031288		74684521	1	no_errors	ENST00000452361	ensembl	human	known	70_37	missense	SNP	0.926	A	A	74684521	G	A	74684521	3	1	130	1	0	0	0	0	1	0	0	0	7767	1291	45	1	619	1	INO80B	2	74684521	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	1009380	74684521	168514852	21	19970										
SNRNP200	23020	genome.wustl.edu	37	chr2	96944427	96944427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	accagctctgacaagtggtcCgacaagtgacgatgggagat	13	9	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:96944427C>T	ENST00000323853.5	-	38	5423	c.5346G>A	c.(5344-5346)tcG>tcA	p.S1782S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1782					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACAAGTGGTCCGACAAGTGAC	0.572																																																	0													88	86	87					2																	96944427		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5346G>A	2.37:g.96944427C>T			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1782	ENST00000323853.5	37	c.5346	CCDS2020.1	2																																																																																			SNRNP200	-	NULL		0.572	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	C	NM_014014		96944427	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	silent	SNP	0.985	T	T	96944427	C	T	96944427	2	4	130	1	0	0	0	0	0	0	0	1	14882	639	23	2		2	SNRNP200	2	96944427	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	22259906	96944427	146254946	22	19971										
AFF3	3899	genome.wustl.edu	37	chr2	100217938	100217938	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gggcttgctgccctcactctCgctggagctgctctcggtct	12	15	4	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:100217938C>G	ENST00000409236.2	-	12	1442	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	AFF3_ENST00000356421.2_Missense_Mutation_p.E469Q|AFF3_ENST00000317233.4_Missense_Mutation_p.E444Q|AFF3_ENST00000409579.1_Missense_Mutation_p.E469Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	444	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTCACTCTCGCTGGAGCTG	0.642																																																	0													18	19	19					2																	100217938		2202	4300	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1330G>C	2.37:g.100217938C>G	ENSP00000387207:p.Glu444Gln		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E469Q	ENST00000409236.2	37	c.1405	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.098128	0.94197	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000022	T	0.78997	0.4372	L	0.56769	1.78	0.53688	D	0.999974	D;D;D	0.76494	0.999;0.996;0.997	D;P;P	0.68765	0.96;0.898;0.835	T	0.78109	-0.2332	10	0.41790	T	0.15	.	18.6719	0.91514	0.0:1.0:0.0:0.0	.	597;444;469	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Q	444;469;469;444;444;597;469	ENSP00000317421:E444Q;ENSP00000348793:E469Q;ENSP00000386834:E469Q;ENSP00000387207:E444Q	ENSP00000317421:E444Q	E	-	1	0	AFF3	99584370	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.996000	0.76263	2.413000	0.81919	0.579000	0.79373	GAG	AFF3	-	pfam_TF_AF4/FMR2		0.642	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100217938	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100217938	C	G	100217938	3	3	130	1	0	0	0	0	1	0	0	0	358	893	31	1	2398	1	AFF3	2	100217938	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	3273511	100217938	142981435	23	19972										
NEB	4703	genome.wustl.edu	37	chr2	152432303	152432303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tatccttgtcccaaacctctCtgtactttggctgtggaaag	8	11	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:152432303C>G	ENST00000172853.10	-	79	11963	c.11816G>C	c.(11815-11817)aGa>aCa	p.R3939T	NEB_ENST00000603639.1_Missense_Mutation_p.R5640T|NEB_ENST00000604864.1_Missense_Mutation_p.R5640T|NEB_ENST00000427231.2_Missense_Mutation_p.R5640T|NEB_ENST00000409198.1_Missense_Mutation_p.R3939T|NEB_ENST00000397345.3_Missense_Mutation_p.R5640T			P20929	NEBU_HUMAN	nebulin	3939					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAAACCTCTCTGTACTTTGG	0.333																																																	0													266	259	261					2																	152432303		1813	4077	5890	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11816G>C	2.37:g.152432303C>G	ENSP00000172853:p.Arg3939Thr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R5640T	ENST00000172853.10	37	c.16919		2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476917	0.44044	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	6.06	6.06	0.98353	.	0.137128	0.64402	D	0.000003	T	0.57036	0.2026	L	0.28400	0.85	0.80722	D	1	B;D	0.53151	0.028;0.958	B;D	0.64687	0.1;0.928	T	0.53961	-0.8364	10	0.39692	T	0.17	.	10.5517	0.45092	0.0:0.8539:0.0:0.1461	.	3939;370	P20929;Q14215	NEBU_HUMAN;.	T	3939;5640;5640;370;3939	ENSP00000386259:R3939T;ENSP00000380505:R5640T;ENSP00000416578:R5640T;ENSP00000410961:R370T;ENSP00000172853:R3939T	ENSP00000172853:R3939T	R	-	2	0	NEB	152140549	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.947000	0.40293	2.882000	0.98803	0.655000	0.94253	AGA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152432303	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152432303	C	G	152432303	3	3	130	1	0	0	0	0	1	0	0	0	10326	913	32	1	9071	1	NEB	2	152432303	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	52214365	152432303	90767070	24	19973										
AGPS	8540	genome.wustl.edu	37	chr2	178301609	178301609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	atgatcgagtatttagagctCatggtaagttactttatatt	8	4	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:178301609C>T	ENST00000264167.4	+	4	705	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	187					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATTTAGAGCTCATGGTAAGTT	0.279																																																	0													90	97	95					2																	178301609		2201	4294	6495	SO:0001583	missense	8540			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.559C>T	2.37:g.178301609C>T	ENSP00000264167:p.His187Tyr		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.H187Y	ENST00000264167.4	37	c.559	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065314	0.76187	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82167	-1.58	5.32	4.45	0.53987	FAD-binding, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91198	0.4989	10	0.37606	T	0.19	.	14.2505	0.66016	0.0:0.9275:0.0:0.0725	.	187	O00116	ADAS_HUMAN	Y	187;57	ENSP00000264167:H187Y	ENSP00000264167:H187Y	H	+	1	0	AGPS	178009855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.658000	0.74407	1.364000	0.46038	0.655000	0.94253	CAT	AGPS	-	superfamily_FAD-bd_2		0.279	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	C			178301609	1	no_errors	ENST00000264167	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178301609	C	T	178301609	3	4	130	1	0	0	0	0	1	0	0	0	394	826	29	1	573	1	AGPS	2	178301609	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	25869306	178301609	64897764	25	19974										
TTN	7273	genome.wustl.edu	37	chr2	179577844	179577844	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aaggagcactacattcatcaGaaccagccatattagtagct	7	10	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:179577844G>A	ENST00000591111.1	-	91	26290	c.26066C>T	c.(26065-26067)tCt>tTt	p.S8689F	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7762F|TTN_ENST00000589042.1_Missense_Mutation_p.S9006F|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12846	Ig-like 69.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTCATCAGAACCAGCCAT	0.373																																																	0													76	76	76					2																	179577844		1965	4148	6113	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26066C>T	2.37:g.179577844G>A	ENSP00000465570:p.Ser8689Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S7762F	ENST00000591111.1	37	c.23285		2	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129425	0.37630	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.85	5.85	0.93711	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72285	0.3441	M	0.79475	2.455	0.80722	D	1	B	0.19331	0.035	B	0.23419	0.046	T	0.69888	-0.5023	9	0.87932	D	0	.	20.1708	0.98159	0.0:0.0:1.0:0.0	.	8689	Q8WZ42	TITIN_HUMAN	F	7762	ENSP00000343764:S7762F	ENSP00000343764:S7762F	S	-	2	0	TTN	179286089	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.407000	0.59754	2.761000	0.94854	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179577844	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179577844	G	A	179577844	3	1	130	1	0	0	0	0	1	0	0	0	16766	942	33	1	77592	1	TTN	2	179577844	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	1276235	179577844	63621529	26	19975										
NIF3L1	60491	genome.wustl.edu	37	chr2	201761901	201761901	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aaagacacctaaaactatctCatattcgcttagcccttggg	6	11	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:201761901C>T	ENST00000409020.1	+	5	1123	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	NIF3L1_ENST00000409588.1_Intron|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000409357.1_Missense_Mutation_p.H277Y|NIF3L1_ENST00000416651.1_Missense_Mutation_p.H277Y|NIF3L1_ENST00000359683.4_Missense_Mutation_p.H250Y			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	277					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AAAACTATCTCATATTCGCTT	0.423																																																	0													128	118	121					2																	201761901		1892	4117	6009	SO:0001583	missense	60491			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.829C>T	2.37:g.201761901C>T	ENSP00000386394:p.His277Tyr		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	p.H277Y	ENST00000409020.1	37	c.829	CCDS46485.1	2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590370	0.46214	.	.	ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.01	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.41492	1.28	0.58432	D	0.999999	B	0.09022	0.002	B	0.17722	0.019	T	0.17623	-1.0363	10	0.02654	T	1	-18.1604	15.4984	0.75677	0.0:0.9337:0.0:0.0663	.	277	Q9GZT8	NIF3L_HUMAN	Y	277;277;250;277	ENSP00000400787:H277Y;ENSP00000386394:H277Y;ENSP00000352711:H250Y;ENSP00000387315:H277Y	ENSP00000352711:H250Y	H	+	1	0	NIF3L1	201470146	0.948000	0.32251	0.733000	0.30861	0.963000	0.63663	2.164000	0.42387	1.554000	0.49487	-0.137000	0.14449	CAT	NIF3L1	-	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3		0.423	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NIF3L1	HGNC	protein_coding	OTTHUMT00000336201.1	C	NM_021824		201761901	1	no_errors	ENST00000409020	ensembl	human	known	70_37	missense	SNP	1.000	T	T	201761901	C	T	201761901	3	4	130	1	0	0	0	0	1	0	0	0	10440	826	29	1	843	1	NIF3L1	2	201761901	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	22184057	201761901	41437472	27	19976										
BMPR2	659	genome.wustl.edu	37	chr2	203395559	203395559	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ccatcgagatttaaacagcaGaaatgtcctagtgaaaaatg	8	7	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:203395559G>T	ENST00000374580.4	+	8	1549	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	BMPR2_ENST00000374574.2_Missense_Mutation_p.R337I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTAAACAGCAGAAATGTCCTA	0.373																																																	0													76	78	77					2																	203395559		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1010G>T	2.37:g.203395559G>T	ENSP00000363708:p.Arg337Ile		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R337I	ENST00000374580.4	37	c.1010	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135906	0.77662	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93906	-3.31;-3.31	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.91561	3.22	0.80722	D	1	B;B	0.28082	0.111;0.2	B;B	0.30495	0.061;0.116	D	0.94096	0.7357	10	0.87932	D	0	.	18.0144	0.89235	0.0:0.0:1.0:0.0	.	337;337	Q13161;Q13873	.;BMPR2_HUMAN	I	337	ENSP00000363708:R337I;ENSP00000363702:R337I	ENSP00000363702:R337I	R	+	2	0	BMPR2	203103804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.803000	0.99136	2.692000	0.91855	0.591000	0.81541	AGA	BMPR2	-	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		0.373	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	G	NM_001204		203395559	1	no_errors	ENST00000374580	ensembl	human	known	70_37	missense	SNP	1.000	T	T	203395559	G	T	203395559	3	4	130	1	0	0	0	0	1	0	0	0	1472	942	33	3	1040	3	BMPR2	2	203395559	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	1633658	203395559	39803814	28	19977										
OBSL1	23363	genome.wustl.edu	37	chr2	220418361	220418361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gaacgtagctgtgtcgccctCggtcacctctaggtcgtgtg	13	12	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:220418361C>T	ENST00000404537.1	-	16	4980	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	OBSL1_ENST00000373876.1_Missense_Mutation_p.E1550K|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1642	Ig-like 13.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGTCGCCCTCGGTCACCTCT	0.622											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													52	55	54					2																	220418361		2093	4207	6300	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4924G>A	2.37:g.220418361C>T	ENSP00000385636:p.Glu1642Lys	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1642K	ENST00000404537.1	37	c.4924	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990892	0.93106	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.06768	3.26;3.26	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19725	0.0474	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.06303	-1.0834	9	0.13108	T	0.6	.	15.348	0.74355	0.0:1.0:0.0:0.0	.	1642	O75147	OBSL1_HUMAN	K	1642;1550	ENSP00000385636:E1642K;ENSP00000362983:E1550K	ENSP00000362983:E1550K	E	-	1	0	OBSL1	220126605	0.999000	0.42202	0.992000	0.48379	0.980000	0.70556	4.767000	0.62286	2.198000	0.70561	0.561000	0.74099	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.622	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220418361	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.998	T	T	220418361	C	T	220418361	3	4	130	1	0	0	0	0	1	0	0	0	10837	893	31	1	790	1	OBSL1	2	220418361	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	17022802	220418361	22781012	29	19978										
LRRFIP1	9208	genome.wustl.edu	37	chr2	238662113	238662113	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tctaggcggcagtacgaagaGaaaaacaaagtaagcattag	11	6	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:238662113G>C	ENST00000392000.4	+	8	762	c.645G>C	c.(643-645)gaG>gaC	p.E215D	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E191D|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	215					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTACGAAGAGAAAAACAAAG	0.438																																																	0													95	97	97					2																	238662113		2203	4300	6503	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.645G>C	2.37:g.238662113G>C	ENSP00000375857:p.Glu215Asp		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.E215D	ENST00000392000.4	37	c.645	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487951	0.44249	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.64	3.84	0.44239	.	0.330011	0.34223	N	0.004146	T	0.47021	0.1423	L	0.56280	1.765	0.52099	D	0.999945	B;B;B;B;B	0.30511	0.005;0.174;0.151;0.282;0.005	B;B;B;B;B	0.36766	0.019;0.22;0.232;0.22;0.052	T	0.36962	-0.9726	10	0.35671	T	0.21	-35.5843	6.4732	0.22020	0.2124:0.135:0.6526:0.0	.	159;159;215;191;343	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	D	343;159;333;191;215	ENSP00000310109:E343D;ENSP00000289175:E159D;ENSP00000244815:E191D;ENSP00000375857:E215D	ENSP00000244815:E191D	E	+	3	2	LRRFIP1	238326852	0.768000	0.28519	0.989000	0.46669	0.933000	0.57130	-0.162000	0.10012	0.848000	0.35191	0.650000	0.86243	GAG	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	G	NM_004735		238662113	1	no_errors	ENST00000392000	ensembl	human	known	70_37	missense	SNP	0.998	C	C	238662113	G	C	238662113	3	2	130	1	0	0	0	0	1	0	0	0	9050	933	33	1	1157	1	LRRFIP1	2	238662113	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	18243752	238662113	4537260	30	19979										
ITPR1	3708	genome.wustl.edu	37	chr3	4856756	4856756	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggaacccctgtttgctgctaGagttatttatgacctcttgt	9	9	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:4856756G>C	ENST00000443694.2	+	56	7676	c.7676G>C	c.(7675-7677)aGa>aCa	p.R2559T	AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2526T|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2526T|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2559T|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2511T|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000302640.8_Missense_Mutation_p.R2559T|ITPR1_ENST00000544951.1_Missense_Mutation_p.R537T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2574					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTGCTGCTAGAGTTATTTAT	0.483																																																	0													225	220	221					3																	4856756		1966	4185	6151	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7676G>C	3.37:g.4856756G>C	ENSP00000401671:p.Arg2559Thr		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2559T	ENST00000443694.2	37	c.7676	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624175	0.87560	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	4.59	4.59	0.56863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.94385	3.53	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98942	1.0791	10	0.87932	D	0	.	17.415	0.87497	0.0:0.0:1.0:0.0	.	537;2574;2526	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	T	2574;2559;2559;2526;1020;2526;2511;537;2559	ENSP00000306253:R2559T;ENSP00000346595:R2559T;ENSP00000405934:R2526T;ENSP00000349597:R2526T;ENSP00000397885:R2511T;ENSP00000440564:R537T;ENSP00000401671:R2559T	ENSP00000306253:R2559T	R	+	2	0	ITPR1	4831756	1.000000	0.71417	0.967000	0.41034	0.880000	0.50808	9.787000	0.99055	2.100000	0.63781	0.467000	0.42956	AGA	ITPR1	-	pfam_Ion_trans_dom		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4856756	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	0.997	C	C	4856756	G	C	4856756	3	2	130	1	0	0	0	0	1	0	0	0	7940	942	33	1	7947	1	ITPR1	3	4856756	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		4856756	193165674	31	19980										
SLC6A20	54716	genome.wustl.edu	37	chr3	45812709	45812709	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtgggacagcccaggcttacTtcttcaagcagttttcataa	9	10	3	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:45812709T>G	ENST00000358525.4	-	6	1050	c.935A>C	c.(934-936)aAg>aCg	p.K312T	SLC6A20_ENST00000353278.4_Splice_Site_p.K275T|SLC6A20_ENST00000456124.2_Splice_Site_p.K312T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	312					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCAGGCTTACTTCTTCAAGCA	0.542																																																	0													78	72	74					3																	45812709		2203	4300	6503	SO:0001630	splice_region_variant	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.935+1A>C	3.37:g.45812709T>G			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.K312T	ENST00000358525.4	37	c.935	CCDS43077.1	3	.	.	.	.	.	.	.	.	.	.	T	7.930	0.740506	0.15642	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.76839	-1.05;-0.95;-0.97	5.02	3.86	0.44501	.	0.115474	0.64402	D	0.000019	T	0.60090	0.2242	N	0.04203	-0.255	0.45390	D	0.998373	P;P	0.42161	0.73;0.772	B;P	0.46850	0.394;0.529	T	0.55036	-0.8203	9	.	.	.	.	7.91	0.29785	0.0:0.1608:0.0:0.8392	.	275;312	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	275;312;312	ENSP00000296133:K275T;ENSP00000346298:K312T;ENSP00000404310:K312T	.	K	-	2	0	SLC6A20	45787713	1.000000	0.71417	0.948000	0.38648	0.347000	0.29111	2.934000	0.48956	0.759000	0.33084	0.383000	0.25322	AAG	SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.542	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	T	NM_020208	Missense_Mutation	45812709	-1	no_errors	ENST00000358525	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45812709	T	G	45812709	5	3	130	1	0	0	0	0	0	0	1	0	14714	1623	56	5	867	5	SLC6A20	3	45812709	Splice_Site	SNP	T	TCGA-FU-A3HY-01A-11D-A21Q-09	40955953	45812709	152209721	32	19981										
DHX30	22907	genome.wustl.edu	37	chr3	47884655	47884655	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgtctacactcaccctgctCtggccctgccccatgacctt	6	19	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:47884655C>G	ENST00000445061.1	+	9	1256	c.849C>G	c.(847-849)ctC>ctG	p.L283L	DHX30_ENST00000446256.2_Silent_p.L244L|DHX30_ENST00000457607.1_Silent_p.L311L|DHX30_ENST00000348968.4_Silent_p.L255L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	283						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCACCCTGCTCTGGCCCTGCC	0.542																																																	0													141	128	132					3																	47884655		2203	4300	6503	SO:0001819	synonymous_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.849C>G	3.37:g.47884655C>G			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L283	ENST00000445061.1	37	c.849	CCDS2759.1	3																																																																																			DHX30	-	NULL		0.542	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	C	NM_138615		47884655	1	no_errors	ENST00000445061	ensembl	human	known	70_37	silent	SNP	1.000	G	G	47884655	C	G	47884655	2	3	130	1	0	0	0	0	0	0	0	1	4514	900	32	1		1	DHX30	3	47884655	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2071946	47884655	150137775	33	19982										
UBA7	7318	genome.wustl.edu	37	chr3	49847050	49847050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttccagtggccaagagcccaCgccacacagtcttgccagtt	9	15	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:49847050C>T	ENST00000333486.3	-	16	2171	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	671					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547																																																	0													97	99	98					3																	49847050		2203	4300	6503	SO:0001819	synonymous_variant	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2013G>A	3.37:g.49847050C>T			Q9BRB2	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A671	ENST00000333486.3	37	c.2013	CCDS2805.1	3																																																																																			UBA7	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1		0.547	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49847050	-1	no_errors	ENST00000333486	ensembl	human	known	70_37	silent	SNP	0.128	T	T	49847050	C	T	49847050	2	4	130	1	0	0	0	0	0	0	0	1	16864	523	19	2		2	UBA7	3	49847050	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1962395	49847050	148175380	34	19983										
PBRM1	55193	genome.wustl.edu	37	chr3	52668775	52668775	+	Frame_Shift_Del	DEL	C	C	-													0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgataaaaaggatttgaaaCatccataaaggaagtgatgc							TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:52668775delC	ENST00000296302.7	-	11	1145	c.1144delG	c.(1144-1146)gttfs	p.V382fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V350fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V382fs			Q86U86	PB1_HUMAN	polybromo 1	382					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGATTTGAAACATCCATAAAG	0.388			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													104	102	103					3																	52668775		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1144delG	3.37:g.52668775delC	ENSP00000296302:p.Val382fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V382fs	ENST00000296302.7	37	c.1144		3																																																																																			PBRM1	-	superfamily_Bromodomain,smart_Bromodomain		0.388	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	C	NM_018165		52668775	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	52668775	C	-	52668775	7	5	130	1	0	1	0	1	0	0	0	0	11515	478	17	0	3836	0	PBRM1	3	52668775	Frame_Shift_Del	DEL	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2821725	52668775	145353655	35	19984										
IMPG2	50939	genome.wustl.edu	37	chr3	100994515	100994515	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agcatcactcacactctcctCtggcctttccaagctgctct	5	17	5	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:100994515C>G	ENST00000193391.7	-	6	845	c.658G>C	c.(658-660)Gag>Cag	p.E220Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	220					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACACTCTCCTCTGGCCTTTCC	0.443																																																	0													105	95	98					3																	100994515		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.658G>C	3.37:g.100994515C>G	ENSP00000193391:p.Glu220Gln		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E220Q	ENST00000193391.7	37	c.658	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839012	0.32513	.	.	ENSG00000081148	ENST00000193391	T	0.24151	1.87	5.46	3.63	0.41609	.	0.428676	0.23694	N	0.045498	T	0.12732	0.0309	N	0.12746	0.255	0.22096	N	0.999363	B;B	0.20550	0.046;0.022	B;B	0.17098	0.017;0.012	T	0.27571	-1.0070	10	0.21014	T	0.42	-3.8459	8.3364	0.32217	0.0:0.7519:0.1626:0.0855	.	220;220	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Q	220	ENSP00000193391:E220Q	ENSP00000193391:E220Q	E	-	1	0	IMPG2	102477205	0.023000	0.18921	0.464000	0.27143	0.985000	0.73830	1.036000	0.30228	0.652000	0.30806	0.555000	0.69702	GAG	IMPG2	-	NULL		0.443	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			100994515	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	0.753	G	G	100994515	C	G	100994515	3	3	130	1	0	0	0	0	1	0	0	0	7749	922	32	1	3123	1	IMPG2	3	100994515	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	48325740	100994515	97027915	36	19985										
ABHD10	55347	genome.wustl.edu	37	chr3	111710503	111710503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	accgaatgagggaaaaagcaGacattcaacttcttgtttac	8	8	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:111710503G>A	ENST00000273359.3	+	5	883	c.856G>A	c.(856-858)Gac>Aac	p.D286N	ABHD10_ENST00000534857.1_Missense_Mutation_p.D129N	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	286					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GGAAAAAGCAGACATTCAACT	0.383																																																	0													108	93	98					3																	111710503		2203	4300	6503	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.856G>A	3.37:g.111710503G>A	ENSP00000273359:p.Asp286Asn		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.D286N	ENST00000273359.3	37	c.856	CCDS2963.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.371753	0.95923	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.39787	1.06;1.06	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.82823	2.61	0.80722	D	1	D	0.63880	0.993	P	0.53401	0.725	T	0.65709	-0.6102	10	0.54805	T	0.06	-2.2363	18.8889	0.92391	0.0:0.0:1.0:0.0	.	286	Q9NUJ1	ABHDA_HUMAN	N	129;286	ENSP00000442932:D129N;ENSP00000273359:D286N	ENSP00000273359:D286N	D	+	1	0	ABHD10	113193193	1.000000	0.71417	0.964000	0.40570	0.921000	0.55340	9.447000	0.97595	2.771000	0.95319	0.591000	0.81541	GAC	ABHD10	-	NULL		0.383	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	G	NM_018394		111710503	1	no_errors	ENST00000273359	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111710503	G	A	111710503	3	1	130	1	0	0	0	0	1	0	0	0	74	942	33	1	874	1	ABHD10	3	111710503	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	10715988	111710503	86311927	37	19986										
DNAJC13	23317	genome.wustl.edu	37	chr3	132172164	132172164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tttatttgcgtcagagcaaaGagaagagattattaaaagtg	10	3	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:132172164G>C	ENST00000260818.6	+	7	808	c.560G>C	c.(559-561)aGa>aCa	p.R187T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	187					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCAGAGCAAAGAGAAGAGATT	0.343																																																	0													42	43	43					3																	132172164		2202	4300	6502	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.560G>C	3.37:g.132172164G>C	ENSP00000260818:p.Arg187Thr		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.R187T	ENST00000260818.6	37	c.560	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341975	0.61073	.	.	ENSG00000138246	ENST00000260818	T	0.41065	1.01	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	L	0.47716	1.5	0.80722	D	1	B;P	0.39480	0.155;0.675	B;B	0.37144	0.051;0.242	T	0.22277	-1.0221	10	0.41790	T	0.15	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	187;187	A7E2Y5;O75165	.;DJC13_HUMAN	T	187	ENSP00000260818:R187T	ENSP00000260818:R187T	R	+	2	0	DNAJC13	133654854	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.350000	0.79385	2.748000	0.94277	0.650000	0.86243	AGA	DNAJC13	-	NULL		0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	G	NM_015268		132172164	1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132172164	G	C	132172164	3	2	130	1	0	0	0	0	1	0	0	0	4642	942	33	1	582	1	DNAJC13	3	132172164	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	20461661	132172164	65850266	38	19987										
ZIC1	7545	genome.wustl.edu	37	chr3	147131190	147131190	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gccttcgccggccgccagctCtggctacgaatcctccacgc	10	19	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:147131190C>T	ENST00000282928.4	+	3	1925	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	399	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S399C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGCCAGCTCTGGCTACGAA	0.617																																																	1	Substitution - Missense(1)	ovary(1)											101	91	95					3																	147131190		2203	4300	6503	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1196C>T	3.37:g.147131190C>T	ENSP00000282928:p.Ser399Phe		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S399F	ENST00000282928.4	37	c.1196	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932001	0.73442	.	.	ENSG00000152977	ENST00000282928	T	0.14516	2.5	3.37	3.37	0.38596	.	0.000000	0.64402	U	0.000004	T	0.40743	0.1129	M	0.86420	2.815	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.51560	-0.8690	10	0.54805	T	0.06	.	14.7459	0.69490	0.0:1.0:0.0:0.0	.	399	Q15915	ZIC1_HUMAN	F	399	ENSP00000282928:S399F	ENSP00000282928:S399F	S	+	2	0	ZIC1	148613880	1.000000	0.71417	0.906000	0.35671	0.624000	0.37722	7.111000	0.77077	1.431000	0.47355	0.462000	0.41574	TCT	ZIC1	-	NULL		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	C	NM_003412		147131190	1	no_errors	ENST00000282928	ensembl	human	known	70_37	missense	SNP	0.999	T	T	147131190	C	T	147131190	3	4	130	1	0	0	0	0	1	0	0	0	17708	913	32	1	1206	1	ZIC1	3	147131190	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	14959026	147131190	50891240	39	19988										
TNIK	23043	genome.wustl.edu	37	chr3	170875260	170875260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggtcctcacctcctccagccGccgcctctgctctttctgct	7	20	4	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:170875260G>A	ENST00000436636.2	-	12	1554	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	TNIK_ENST00000538048.1_Missense_Mutation_p.R404W|TNIK_ENST00000341852.6_Missense_Mutation_p.R404W|TNIK_ENST00000460047.1_Missense_Mutation_p.R404W|TNIK_ENST00000369326.5_Missense_Mutation_p.R404W|TNIK_ENST00000488470.1_Missense_Mutation_p.R404W|TNIK_ENST00000475336.1_Missense_Mutation_p.R404W|TNIK_ENST00000284483.8_Missense_Mutation_p.R404W|TNIK_ENST00000470834.1_Missense_Mutation_p.R404W|TNIK_ENST00000357327.5_Missense_Mutation_p.R404W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	404	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCCAgccgccgcctctgc	0.647																																																	0													11	15	13					3																	170875260		2048	4189	6237	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1210C>T	3.37:g.170875260G>A	ENSP00000399511:p.Arg404Trp		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R404W	ENST00000436636.2	37	c.1210	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026684	0.75390	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.44482	3.67;0.92;3.63;0.96;3.67;0.92;0.92;3.63;3.63;0.92	5.61	0.565	0.17309	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.81112	2.525	0.51012	D	0.999902	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.997	P;P;P;P;P;P;P;P	0.56916	0.809;0.809;0.809;0.809;0.809;0.809;0.809;0.649	T	0.70185	-0.4941	10	0.87932	D	0	.	16.1241	0.81380	0.0:0.0:0.1915:0.8085	.	404;404;404;404;404;404;404;404	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	W	404	ENSP00000399511:R404W;ENSP00000358332:R404W;ENSP00000443278:R404W;ENSP00000345352:R404W;ENSP00000284483:R404W;ENSP00000418156:R404W;ENSP00000349880:R404W;ENSP00000418916:R404W;ENSP00000418378:R404W;ENSP00000419990:R404W	ENSP00000284483:R404W	R	-	1	2	TNIK	172357954	0.999000	0.42202	0.996000	0.52242	0.802000	0.45316	1.291000	0.33330	0.147000	0.19030	-0.324000	0.08512	CGG	TNIK	-	NULL		0.647	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170875260	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170875260	G	A	170875260	3	1	130	1	0	0	0	0	1	0	0	0	16343	1086	38	2	2960	2	TNIK	3	170875260	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	23744070	170875260	27147170	40	19989										
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178952085	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178952085	A	T	178952085	3	4	130	1	0	0	0	0	1	0	0	0	11937	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-FU-A3HY-01A-11D-A21Q-09	8076825	178952085	19070345	41	19990										
BOD1L	259282	genome.wustl.edu	37	chr4	13606503	13606503	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctacttgcctttttacatctCttgtgtcagtctcttcctgt	5	12	3	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:13606503C>G	ENST00000040738.5	-	10	2156	c.2021G>C	c.(2020-2022)aGa>aCa	p.R674T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	674	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTTACATCTCTTGTGTCAGT	0.393																																																	0													240	249	246					4																	13606503		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2021G>C	4.37:g.13606503C>G	ENSP00000040738:p.Arg674Thr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R674T	ENST00000040738.5	37	c.2021	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099264	0.37048	.	.	ENSG00000038219	ENST00000040738	T	0.08807	3.05	5.71	2.07	0.26955	.	0.291295	0.24657	N	0.036677	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	P	0.50272	0.933	P	0.46479	0.518	T	0.27297	-1.0078	10	0.37606	T	0.19	-10.2	9.981	0.41813	0.0:0.6126:0.0:0.3874	.	674	Q8NFC6	BOD1L_HUMAN	T	674	ENSP00000040738:R674T	ENSP00000040738:R674T	R	-	2	0	BOD1L	13215601	0.003000	0.15002	0.512000	0.27736	0.642000	0.38348	-0.081000	0.11321	0.781000	0.33589	-0.253000	0.11424	AGA	BOD1L1	-	NULL		0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13606503	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.026	G	G	13606503	C	G	13606503	3	3	130	1	0	0	0	0	1	0	0	0	1484	913	32	1	7202	1	BOD1L	4	13606503	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09		13606503	177547773	42	19991										
RPL9	6133	genome.wustl.edu	37	chr4	39458080	39458080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	acccaagaaatttcggatttCaacaagagacccattctcct	5	12	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:39458080C>T	ENST00000449470.2	-	4	785	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.E113K|LIAS_ENST00000261434.3_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	113					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						TTTCGGATTTCAACAAGAGAC	0.403																																																	0													41	42	42					4																	39458080		2201	4297	6498	SO:0001583	missense	6133			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.337G>A	4.37:g.39458080C>T	ENSP00000400467:p.Glu113Lys			Missense_Mutation	SNP	pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6	p.E113K	ENST00000449470.2	37	c.337	CCDS3452.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.855195	0.97030	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.66	5.66	0.87406	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	D	0.83147	0.5191	M	0.89414	3.03	0.80722	D	1	D;P	0.57899	0.981;0.866	P;P	0.58721	0.844;0.817	D	0.86187	0.1610	9	0.87932	D	0	.	18.7279	0.91722	0.0:1.0:0.0:0.0	.	113;113	B4DLV8;P32969	.;RL9_HUMAN	K	113	.	ENSP00000346022:E113K	E	-	1	0	RPL9	39134475	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.741000	0.84997	2.665000	0.90641	0.561000	0.74099	GAA	RPL9	-	pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6		0.403	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL9	HGNC	protein_coding	OTTHUMT00000361018.1	C			39458080	-1	no_errors	ENST00000295955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39458080	C	T	39458080	3	4	130	1	0	0	0	0	1	0	0	0	13633	835	29	1	253	1	RPL9	4	39458080	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	25851577	39458080	151696196	43	19992										
ADAMTS3	9508	genome.wustl.edu	37	chr4	73156717	73156717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gctgaaggcagcgtacagtgCgaagctgatagccagaactt	13	9	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:73156717C>T	ENST00000286657.4	-	20	2822	c.2786G>A	c.(2785-2787)cGc>cAc	p.R929H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	929	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCGTACAGTGCGAAGCTGATA	0.547																																					NSCLC(168;1941 2048 2918 13048 43078)												0													165	135	145					4																	73156717		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2786G>A	4.37:g.73156717C>T	ENSP00000286657:p.Arg929His		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R929H	ENST00000286657.4	37	c.2786	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047571	0.75846	.	.	ENSG00000156140	ENST00000286657	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	H	0.99379	4.54	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97140	0.9824	10	0.87932	D	0	.	19.2087	0.93746	0.0:1.0:0.0:0.0	.	929	O15072	ATS3_HUMAN	H	929	ENSP00000286657:R929H	ENSP00000286657:R929H	R	-	2	0	ADAMTS3	73375581	1.000000	0.71417	0.326000	0.25389	0.117000	0.20001	7.734000	0.84928	2.533000	0.85409	0.557000	0.71058	CGC	ADAMTS3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.547	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	C			73156717	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73156717	C	T	73156717	3	4	130	1	0	0	0	0	1	0	0	0	267	768	27	2	843	2	ADAMTS3	4	73156717	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	33698637	73156717	117997559	44	19993										
SPP1	6696	genome.wustl.edu	37	chr4	88902911	88902911	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gatagtgtggtttatggactGaggtcaaaatctaagaagtt	12	3	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:88902911G>A	ENST00000395080.3	+	6	628	c.501G>A	c.(499-501)ctG>ctA	p.L167L	SPP1_ENST00000360804.4_Silent_p.L140L|SPP1_ENST00000237623.7_Silent_p.L153L|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	167					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TTTATGGACTGAGGTCAAAAT	0.473																																																	0													133	122	126					4																	88902911		2203	4300	6503	SO:0001819	synonymous_variant	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.501G>A	4.37:g.88902911G>A			B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.L167	ENST00000395080.3	37	c.501	CCDS43250.1	4																																																																																			SPP1	-	pfam_Osteopontin,smart_Osteopontin		0.473	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	G			88902911	1	no_errors	ENST00000395080	ensembl	human	known	70_37	silent	SNP	0.375	A	A	88902911	G	A	88902911	2	1	130	1	0	0	0	0	0	0	0	1	15116	1277	45	1		1	SPP1	4	88902911	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	15746194	88902911	102251365	45	19994										
HERC6	55008	genome.wustl.edu	37	chr4	89363478	89363478	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aaactttcagtgaaagagatCacccaacatcaataacttgt	5	9	3	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:89363478C>T	ENST00000264346.7	+	23	2994	c.2935C>T	c.(2935-2937)Cac>Tac	p.H979Y	HERC6_ENST00000380265.5_Missense_Mutation_p.H943Y	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	979	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TGAAAGAGATCACCCAACATC	0.398																																																	0													88	85	86					4																	89363478		1926	4137	6063	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2935C>T	4.37:g.89363478C>T	ENSP00000264346:p.His979Tyr		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.H979Y	ENST00000264346.7	37	c.2935	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.310190	0.00237	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.55760	0.5;0.5	4.69	-9.38	0.00623	HECT (4);	2.091620	0.01930	N	0.041155	T	0.18383	0.0441	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.30650	-0.9971	10	0.44086	T	0.13	.	3.883	0.09086	0.4765:0.3195:0.08:0.124	.	943;979	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Y	943;979	ENSP00000369617:H943Y;ENSP00000264346:H979Y	ENSP00000264346:H979Y	H	+	1	0	HERC6	89582501	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	-2.923000	0.00692	-2.394000	0.00583	-0.229000	0.12294	CAC	HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.398	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	C			89363478	1	no_errors	ENST00000264346	ensembl	human	known	70_37	missense	SNP	0.000	T	T	89363478	C	T	89363478	3	4	130	1	0	0	0	0	1	0	0	0	7082	826	29	1	2822	1	HERC6	4	89363478	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	460567	89363478	101790798	46	19995										
DNAJB14	79982	genome.wustl.edu	37	chr4	100844268	100844268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcaaagcaagctttctataaGcttttttcaaatcttcatca	3	9	6	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:100844268G>A	ENST00000442697.2	-	3	534	c.380C>T	c.(379-381)gCt>gTt	p.A127V	DNAJB14_ENST00000471738.1_5'Flank	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	127	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTTTCTATAAGCTTTTTTCAA	0.323																																																	0													78	73	75					4																	100844268		2202	4298	6500	SO:0001583	missense	79982			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"Heat shock proteins / DNAJ (HSP40)"	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.380C>T	4.37:g.100844268G>A	ENSP00000404381:p.Ala127Val		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.A127V	ENST00000442697.2	37	c.380	CCDS34035.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.514633	0.96402	.	.	ENSG00000164031	ENST00000442697	T	0.42131	0.98	5.64	5.64	0.86602	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	T	0.74959	-0.3486	10	0.87932	D	0	.	19.7015	0.96057	0.0:0.0:1.0:0.0	.	127;42	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	V	127	ENSP00000404381:A127V	ENSP00000404381:A127V	A	-	2	0	DNAJB14	101063291	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.666000	0.98612	2.653000	0.90120	0.313000	0.20887	GCT	DNAJB14	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.323	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB14	HGNC	protein_coding	OTTHUMT00000253696.2	G	NM_001031723.2		100844268	-1	no_errors	ENST00000442697	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100844268	G	A	100844268	3	1	130	1	0	0	0	0	1	0	0	0	4629	971	34	4	783	4	DNAJB14	4	100844268	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	11480790	100844268	90310008	47	19996										
SYNPO2	171024	genome.wustl.edu	37	chr4	119952562	119952562	+	Frame_Shift_Del	DEL	A	A	-													0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gaggagctcagctctttgctAaaaggcagtcgagaatggag							TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:119952562delA	ENST00000429713.2	+	4	2814	c.2632delA	c.(2632-2634)aaafs	p.K878fs	SYNPO2_ENST00000434046.2_Frame_Shift_Del_p.K878fs|SYNPO2_ENST00000307142.4_Frame_Shift_Del_p.K878fs|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	878						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCTTTGCTAAAAGGCAGTC	0.547																																																	0													126	124	125					4																	119952562		2203	4300	6503	SO:0001589	frameshift_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2632delA	4.37:g.119952562delA	ENSP00000395143:p.Lys878fs		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R879fs	ENST00000429713.2	37	c.2632	CCDS47129.1	4																																																																																			SYNPO2	-	NULL		0.547	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	A			119952562	1	no_errors	ENST00000307142	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-	-	119952562	A	-	119952562	7	5	130	1	0	1	0	1	0	0	0	0	15487	363	13	0	2646	0	SYNPO2	4	119952562	Frame_Shift_Del	DEL	A	TCGA-FU-A3HY-01A-11D-A21Q-09	19108294	119952562	71201714	48	19997										
TRIM2	23321	genome.wustl.edu	37	chr4	154216995	154216995	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agactctatgaccagcacatCcgaggcagcccgtttaagct	9	13	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:154216995C>T	ENST00000437508.2	+	6	1437	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	TRIM2_ENST00000338700.5_Silent_p.I439I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	412					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACCAGCACATCCGAGGCAGCC	0.557																																																	0													106	101	103					4																	154216995		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1236C>T	4.37:g.154216995C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.I439	ENST00000437508.2	37	c.1317	CCDS47147.1	4																																																																																			TRIM2	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.557	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	C			154216995	1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154216995	C	T	154216995	2	4	130	1	0	0	0	0	0	0	0	1	16525	845	30	1		1	TRIM2	4	154216995	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	34264433	154216995	36937281	49	19998										
RAPGEF2	9693	genome.wustl.edu	37	chr4	160262865	160262865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gcgaaattttgaactctttcGcaacattgaacctactgaat	6	9	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:160262865G>A	ENST00000264431.4	+	14	2620	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	734	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GAACTCTTTCGCAACATTGAA	0.398																																																	0													87	80	82					4																	160262865		1851	4098	5949	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2201G>A	4.37:g.160262865G>A	ENSP00000264431:p.Arg734His		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R734H	ENST00000264431.4	37	c.2201	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.396728	0.96009	.	.	ENSG00000109756	ENST00000264431	T	0.34072	1.38	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.045148	0.85682	D	0.000000	T	0.63117	0.2484	M	0.73753	2.245	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	T	0.64063	-0.6495	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	734	Q9Y4G8	RPGF2_HUMAN	H	734	ENSP00000264431:R734H	ENSP00000264431:R734H	R	+	2	0	RAPGEF2	160482315	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	CGC	RAPGEF2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	G	NM_014247		160262865	1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160262865	G	A	160262865	3	1	130	1	0	0	0	0	1	0	0	0	13074	1087	38	2	2255	2	RAPGEF2	4	160262865	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6045870	160262865	30891411	50	19999										
WWC2	80014	genome.wustl.edu	37	chr4	184182333	184182333	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcccctagccagcctggccaGagtggactctgtggagtggc	14	13	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:184182333G>C	ENST00000403733.3	+	11	1756	c.1557G>C	c.(1555-1557)caG>caC	p.Q519H	WWC2_ENST00000513834.1_Missense_Mutation_p.Q519H|WWC2_ENST00000378925.3_Missense_Mutation_p.Q421H|WWC2_ENST00000448232.2_Missense_Mutation_p.Q519H|WWC2_ENST00000504005.1_Missense_Mutation_p.Q201H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	519					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGCCTGGCCAGAGTGGACTCT	0.582																																																	0													54	47	49					4																	184182333		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1557G>C	4.37:g.184182333G>C	ENSP00000384222:p.Gln519His		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.Q519H	ENST00000403733.3	37	c.1557	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	4.737	0.137057	0.09032	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.11930	3.5;2.73;3.5;3.37;3.39	5.07	2.14	0.27477	.	0.486110	0.20575	N	0.089660	T	0.08626	0.0214	L	0.41961	1.31	0.21652	N	0.999601	P;B	0.41265	0.744;0.006	B;B	0.36666	0.23;0.005	T	0.20706	-1.0267	10	0.15952	T	0.53	-3.937	4.748	0.13047	0.0867:0.4303:0.3513:0.1317	.	519;519	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	H	519;421;519;519;201	ENSP00000384222:Q519H;ENSP00000368205:Q421H;ENSP00000425054:Q519H;ENSP00000398577:Q519H;ENSP00000427569:Q201H	ENSP00000368205:Q421H	Q	+	3	2	WWC2	184419327	0.508000	0.26154	0.125000	0.21846	0.558000	0.35554	0.708000	0.25719	0.725000	0.32318	0.650000	0.86243	CAG	WWC2	-	NULL		0.582	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	G	NM_024949		184182333	1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	0.586	C	C	184182333	G	C	184182333	3	2	130	1	0	0	0	0	1	0	0	0	17443	933	33	1	1599	1	WWC2	4	184182333	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	23919468	184182333	6971943	51	20000										
DNAH5	1767	genome.wustl.edu	37	chr5	13717460	13717460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcatccaagtggttttggatGaactgcacagtggcattaaa	10	7	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:13717460G>A	ENST00000265104.4	-	73	12773	c.12669C>T	c.(12667-12669)ttC>ttT	p.F4223F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4223	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTTTTGGATGAACTGCACAG	0.547									Kartagener syndrome																																								0													73	60	65					5																	13717460		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12669C>T	5.37:g.13717460G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F4223	ENST00000265104.4	37	c.12669	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom		0.547	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13717460	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13717460	G	A	13717460	2	1	130	1	0	0	0	0	0	0	0	1	4614	1281	45	1		1	DNAH5	5	13717460	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		13717460	167197800	52	20001										
C5orf22	55322	genome.wustl.edu	37	chr5	31534505	31534505	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgccagcagacaccgtgtttGataaggaaacactctttggg	11	9	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:31534505G>C	ENST00000325366.9	+	2	335	c.208G>C	c.(208-210)Gat>Cat	p.D70H	DROSHA_ENST00000511367.2_5'Flank|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank|C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	70										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CACCGTGTTTGATAAGGAAAC	0.358																																																	0													141	132	135					5																	31534505		2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.208G>C	5.37:g.31534505G>C	ENSP00000326879:p.Asp70His		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	superfamily_ICAT	p.D70H	ENST00000325366.9	37	c.208	CCDS3895.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532567	0.85812	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	T;T	0.46819	0.86;0.86	5.48	5.48	0.80851	.	0.099857	0.64402	D	0.000002	T	0.73125	0.3547	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76814	-0.2820	10	0.72032	D	0.01	-15.6311	19.3532	0.94398	0.0:0.0:1.0:0.0	.	70	Q49AR2	CE022_HUMAN	H	70	ENSP00000326879:D70H;ENSP00000430860:D70H	ENSP00000326879:D70H	D	+	1	0	C5orf22	31570262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.869000	0.69613	2.559000	0.86315	0.655000	0.94253	GAT	C5orf22	-	NULL		0.358	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf22	HGNC	protein_coding	OTTHUMT00000253726.2	G	NM_018356		31534505	1	no_errors	ENST00000325366	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31534505	G	C	31534505	3	2	130	1	0	0	0	0	1	0	0	0	2290	1290	45	1	214	1	C5orf22	5	31534505	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	17817045	31534505	149380755	53	20002										
SPEF2	79925	genome.wustl.edu	37	chr5	35814619	35814619	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtacaaggaagtgatggagaGagatcaccttcaagacatac	11	7	2	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:35814619G>C	ENST00000356031.3	+	37	5587	c.5433G>C	c.(5431-5433)gaG>gaC	p.E1811D	SPEF2_ENST00000303129.4_Missense_Mutation_p.E608D|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1811					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGATGGAGAGAGATCACCTT	0.313																																																	0													71	65	67					5																	35814619		1823	4079	5902	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.5433G>C	5.37:g.35814619G>C	ENSP00000348314:p.Glu1811Asp		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E1811D	ENST00000356031.3	37	c.5433	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042225	0.35989	.	.	ENSG00000152582	ENST00000356031;ENST00000303129	T;T	0.50548	3.18;0.74	5.38	-2.76	0.05896	.	0.491201	0.18859	N	0.129187	T	0.46386	0.1390	N	0.19112	0.55	0.22648	N	0.998896	D;D	0.64830	0.994;0.993	D;D	0.72982	0.979;0.967	T	0.48547	-0.9026	10	0.38643	T	0.18	.	11.735	0.51759	0.6793:0.0:0.3207:0.0	.	608;1811	Q9C093-4;Q9C093	.;SPEF2_HUMAN	D	1811;608	ENSP00000348314:E1811D;ENSP00000303843:E608D	ENSP00000303843:E608D	E	+	3	2	SPEF2	35850376	0.732000	0.28121	0.868000	0.34077	0.670000	0.39368	-0.060000	0.11712	-0.557000	0.06126	-1.008000	0.02478	GAG	SPEF2	-	NULL		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35814619	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.600	C	C	35814619	G	C	35814619	3	2	130	1	0	0	0	0	1	0	0	0	15065	933	33	1	5600	1	SPEF2	5	35814619	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	4280114	35814619	145100641	54	20003										
TMEM161B	153396	genome.wustl.edu	37	chr5	87494811	87494811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	accattttctgtagctcaacCgtgcttattcgccccgcttc	6	15	2	0	rs201032572		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:87494811C>T	ENST00000296595.6	-	10	1195	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	TMEM161B_ENST00000514135.1_Silent_p.T357T|TMEM161B_ENST00000512429.1_Silent_p.T346T|TMEM161B_ENST00000506536.1_Silent_p.T175T|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000511218.1_Silent_p.T148T	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	357						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTAGCTCAACCGTGCTTATTC	0.373																																																	0																																										SO:0001819	synonymous_variant	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1071G>A	5.37:g.87494811C>T			Q5CZH7|Q6UWQ6	Silent	SNP	pfam_Transmembrane_161A/B	p.T357	ENST00000296595.6	37	c.1071	CCDS4065.1	5																																																																																			TMEM161B	-	pfam_Transmembrane_161A/B		0.373	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	C	NM_153354		87494811	-1	no_errors	ENST00000296595	ensembl	human	known	70_37	silent	SNP	0.043	T	T	87494811	C	T	87494811	2	4	130	1	0	0	0	0	0	0	0	1	16107	639	23	2		2	TMEM161B	5	87494811	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	51680192	87494811	93420449	55	20004										
PJA2	9867	genome.wustl.edu	37	chr5	108704312	108704312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcttcagggccactgctatcActttgtagctcaggttcatt	8	11	5	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:108704312A>G	ENST00000361189.2	-	5	1658	c.1419T>C	c.(1417-1419)agT>agC	p.S473S	PJA2_ENST00000361557.3_Silent_p.S473S	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	473					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CACTGCTATCACTTTGTAGCT	0.398																																																	0													184	187	186					5																	108704312		2202	4300	6502	SO:0001819	synonymous_variant	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1419T>C	5.37:g.108704312A>G			A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S473	ENST00000361189.2	37	c.1419	CCDS4099.1	5																																																																																			PJA2	-	NULL		0.398	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	A	NM_014819		108704312	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	silent	SNP	1.000	G	G	108704312	A	G	108704312	2	3	130	1	0	0	0	0	0	0	0	1	11986	156	6	5		5	PJA2	5	108704312	Silent	SNP	A	TCGA-FU-A3HY-01A-11D-A21Q-09	21209501	108704312	72210948	56	20005										
FBN2	2201	genome.wustl.edu	37	chr5	127613633	127613633	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttgcagaagcatcggaatgaGcccatggtattgatgcactg	12	8	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:127613633G>T	ENST00000508053.1	-	64	8384	c.7410C>A	c.(7408-7410)ggC>ggA	p.G2470G	FBN2_ENST00000262464.4_Silent_p.G2470G			P35556	FBN2_HUMAN	fibrillin 2	2470	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCGGAATGAGCCCATGGTAT	0.458																																																	0													172	142	152					5																	127613633		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7410C>A	5.37:g.127613633G>T			B4DU01|Q59ES6	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.G2470	ENST00000508053.1	37	c.7410	CCDS34222.1	5																																																																																			FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127613633	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	silent	SNP	1.000	T	T	127613633	G	T	127613633	2	4	130	1	0	0	0	0	0	0	0	1	5721	958	34	4		4	FBN2	5	127613633	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	18909321	127613633	53301627	57	20006										
IRF1	3659	genome.wustl.edu	37	chr5	131825132	131825132	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tggttggaattaatctgcatCtctagccagggtctcatgcg	11	9	3	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:131825132C>G	ENST00000245414.4	-	2	297	c.39G>C	c.(37-39)gaG>gaC	p.E13D	IRF1_ENST00000405885.2_Missense_Mutation_p.E13D|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	13					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAATCTGCATCTCTAGCCAGG	0.473																																																	0													106	105	106					5																	131825132		2203	4300	6503	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.39G>C	5.37:g.131825132C>G	ENSP00000245414:p.Glu13Asp		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.E13D	ENST00000245414.4	37	c.39	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503847	0.85176	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.88105	2.93	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.76071	0.982;0.987	D	0.99013	1.0815	10	0.66056	D	0.02	-42.3658	13.6629	0.62378	0.0:0.9199:0.0:0.0801	.	13;13	Q5FBX3;P10914	.;IRF1_HUMAN	D	13	ENSP00000245414:E13D;ENSP00000384406:E13D;ENSP00000405655:E13D;ENSP00000396318:E13D	ENSP00000245414:E13D	E	-	3	2	IRF1	131853031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.793000	0.96121	0.561000	0.74099	GAG	IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom		0.473	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	C	NM_002198		131825132	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131825132	C	G	131825132	3	3	130	1	0	0	0	0	1	0	0	0	7847	912	32	1	974	1	IRF1	5	131825132	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	4211499	131825132	49090128	58	20007										
AFF4	27125	genome.wustl.edu	37	chr5	132232824	132232824	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gccttcctttttgtagccttGagatgatgggatgttactgt	11	7	0	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:132232824G>C	ENST00000265343.5	-	11	1877	c.1498C>G	c.(1498-1500)Caa>Gaa	p.Q500E	AFF4_ENST00000378595.3_Missense_Mutation_p.Q500E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	500					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q500*(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTAGCCTTGAGATGATGGG	0.488																																					Ovarian(126;889 1733 2942 10745 11605)												1	Substitution - Nonsense(1)	skin(1)											164	159	161					5																	132232824		2203	4300	6503	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1498C>G	5.37:g.132232824G>C	ENSP00000265343:p.Gln500Glu		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.Q500E	ENST00000265343.5	37	c.1498	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984541	0.18889	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.62788	-0.0;-0.0	5.31	5.31	0.75309	.	0.161021	0.56097	D	0.000031	T	0.75087	0.3802	M	0.71036	2.16	0.42599	D	0.993274	D;B	0.58268	0.982;0.447	D;B	0.70227	0.968;0.147	T	0.69847	-0.5034	10	0.02654	T	1	-11.0488	19.3538	0.94402	0.0:0.0:1.0:0.0	.	500;500	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	E	500	ENSP00000265343:Q500E;ENSP00000367858:Q500E	ENSP00000265343:Q500E	Q	-	1	0	AFF4	132260723	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.526000	0.73799	2.635000	0.89317	0.563000	0.77884	CAA	AFF4	-	pfam_TF_AF4/FMR2		0.488	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	G	NM_014423		132232824	-1	no_errors	ENST00000265343	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132232824	G	C	132232824	3	2	130	1	0	0	0	0	1	0	0	0	359	1299	45	1	2037	1	AFF4	5	132232824	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	407692	132232824	48682436	59	20008										
PCDHB4	56131	genome.wustl.edu	37	chr5	140502130	140502130	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttcacattctcactcgaaatCatagtgagggcaagaaatac	7	9	3	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:140502130C>G	ENST00000194152.1	+	1	550	c.550C>G	c.(550-552)Cat>Gat	p.H184D	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTCGAAATCATAGTGAGGG	0.473																																																	0													68	67	67					5																	140502130		2203	4300	6503	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.550C>G	5.37:g.140502130C>G	ENSP00000194152:p.His184Asp		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H184D	ENST00000194152.1	37	c.550	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157191	0.09236	.	.	ENSG00000081818	ENST00000194152	T	0.19938	2.11	4.56	-3.66	0.04489	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.10165	0.0249	N	0.03253	-0.375	0.09310	N	1	B	0.20780	0.048	B	0.33121	0.158	T	0.45644	-0.9247	9	0.25106	T	0.35	.	11.5984	0.50988	0.5654:0.2709:0.1637:0.0	.	184	Q9Y5E5	PCDB4_HUMAN	D	184	ENSP00000194152:H184D	ENSP00000194152:H184D	H	+	1	0	PCDHB4	140482314	0.000000	0.05858	0.724000	0.30704	0.790000	0.44656	-0.945000	0.03909	-0.453000	0.07076	-0.868000	0.02995	CAT	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.473	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	C	NM_018938		140502130	1	no_errors	ENST00000194152	ensembl	human	known	70_37	missense	SNP	0.000	G	G	140502130	C	G	140502130	3	3	130	1	0	0	0	0	1	0	0	0	11568	826	29	1	552	1	PCDHB4	5	140502130	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	8269306	140502130	40413130	60	20009										
SLC25A2	83884	genome.wustl.edu	37	chr5	140683187	140683187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tggcagaacccgtagcacatGaagaggaccgagttttcggc	13	10	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:140683187G>A	ENST00000239451.4	-	1	425	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	82					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CGTAGCACATGAAGAGGACCG	0.587																																																	0													89	89	89					5																	140683187		2203	4300	6503	SO:0001819	synonymous_variant	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.246C>T	5.37:g.140683187G>A			Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.F82	ENST00000239451.4	37	c.246	CCDS4258.1	5																																																																																			SLC25A2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.587	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A2	HGNC	protein_coding	OTTHUMT00000251799.2	G	NM_031947		140683187	-1	no_errors	ENST00000239451	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140683187	G	A	140683187	2	1	130	1	0	0	0	0	0	0	0	1	14512	1281	45	1		1	SLC25A2	5	140683187	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	181057	140683187	40232073	61	20010										
SLIT3	6586	genome.wustl.edu	37	chr5	168176634	168176634	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cagttgaaggggttggacagGaggtttctaggaagagagaa	17	3	1	3	rs149224050		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:168176634G>C	ENST00000519560.1	-	19	2399	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L	SLIT3_ENST00000332966.8_Silent_p.L660L|SLIT3_ENST00000404867.3_Silent_p.L660L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	660					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTGGACAGGAGGTTTCTAG	0.597																																					Ovarian(29;311 847 10864 17279 24903)												0													103	115	110					5																	168176634		2203	4300	6503	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1980C>G	5.37:g.168176634G>C			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L660	ENST00000519560.1	37	c.1980	CCDS4369.1	5																																																																																			SLIT3	-	NULL		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	G	NM_003062		168176634	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	0.989	C	C	168176634	G	C	168176634	2	2	130	1	0	0	0	0	0	0	0	1	14771	1161	41	1		1	SLIT3	5	168176634	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	27493447	168176634	12738626	62	20011										
SNRNP48	154007	genome.wustl.edu	37	chr6	7590611	7590611	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cgtccctgggctgggacctaGatagtctggatcccggggaa	15	11	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:7590611G>C	ENST00000342415.5	+	1	180	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	41					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTGGGACCTAGATAGTCTGGA	0.692																																																	0													15	17	16					6																	7590611		2182	4272	6454	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.121G>C	6.37:g.7590611G>C	ENSP00000339834:p.Asp41His		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.D41H	ENST00000342415.5	37	c.121	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604386	0.66445	.	.	ENSG00000168566	ENST00000342415;ENST00000397475	T	0.35789	1.29	5.16	4.29	0.51040	.	0.432330	0.27349	N	0.019762	T	0.15435	0.0372	L	0.32530	0.975	0.34745	D	0.731193	P	0.37864	0.61	B	0.38712	0.28	T	0.06427	-1.0827	10	0.87932	D	0	-5.8083	9.4152	0.38517	0.0986:0.0:0.9014:0.0	.	41	Q6IEG0	SNR48_HUMAN	H	41	ENSP00000339834:D41H	ENSP00000339834:D41H	D	+	1	0	SNRNP48	7535610	1.000000	0.71417	0.948000	0.38648	0.979000	0.70002	3.167000	0.50793	1.167000	0.42706	0.563000	0.77884	GAT	SNRNP48	-	NULL		0.692	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	G	NM_152551		7590611	1	no_errors	ENST00000342415	ensembl	human	known	70_37	missense	SNP	0.993	C	C	7590611	G	C	7590611	3	2	130	1	0	0	0	0	1	0	0	0	14887	942	33	1	123	1	SNRNP48	6	7590611	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		7590611	163524456	63	20012										
HLA-A	3105	genome.wustl.edu	37	chr6	29911954	29911954	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tctgaccatgaggccaccctGaggtgctgggccctgggctt	14	13	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:29911954G>C	ENST00000396634.1	+	6	1016	c.675G>C	c.(673-675)ctG>ctC	p.L225L	HLA-A_ENST00000376802.2_Silent_p.L225L|HLA-A_ENST00000376809.5_Silent_p.L225L|HLA-A_ENST00000376806.5_Silent_p.L225L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.L225L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AGGCCACCCTGAGGTGCTGGG	0.602									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											75	98	90					6																	29911954		1508	2707	4215	SO:0001819	synonymous_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.675G>C	6.37:g.29911954G>C			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L225	ENST00000396634.1	37	c.675	CCDS34373.1	6																																																																																			HLA-A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29911954	1	no_errors	ENST00000376806	ensembl	human	known	70_37	silent	SNP	1.000	C	C	29911954	G	C	29911954	2	2	130	1	0	0	0	0	0	0	0	1	7215	1277	45	1		1	HLA-A	6	29911954	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	22321343	29911954	141203113	64	20013										
TAPBP	9278	genome.wustl.edu	37	chr6	33281142	33281142	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttctgcgcgggggtcaggccGctggcccatttcgcagaggc	16	13	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:33281142G>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000475304.1_Silent_p.S107S|TAPBP_ENST00000426633.2_Silent_p.S107S|TAPBP_ENST00000434618.2_Silent_p.S107S|TAPBP_ENST00000456592.2_Silent_p.S107S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGTCAGGCCGCTGGCCCATT	0.697																																																	0													16	20	18					6																	33281142		2193	4294	6487	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281142G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.S107	ENST00000431845.2	37	c.321	CCDS4775.1	6																																																																																			TAPBP	-	NULL		0.697	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000076183.2	G			33281142	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	silent	SNP	0.018	A	A	33281142	G	A	33281142	1	1	130	0	1	0	0	0	0	0	0	0	15582	1078	38	2		2	TAPBP	6	33281142	IGR	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	3369188	33281142	137833925	65	20014										
RIMS1	22999	genome.wustl.edu	37	chr6	72984074	72984074	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtagatggtccccctccctaGataggagacgacctcctagt	10	13	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:72984074G>A	ENST00000521978.1	+	23	3421	c.3421G>A	c.(3421-3423)Gat>Aat	p.D1141N	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1077N|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1141					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCTCCCTAGATAGGAGACG	0.468																																																	0													76	73	74					6																	72984074		1885	4110	5995	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3421G>A	6.37:g.72984074G>A	ENSP00000428417:p.Asp1141Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.D1141N	ENST00000521978.1	37	c.3421	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627680	0.66901	.	.	ENSG00000079841	ENST00000349908;ENST00000518273;ENST00000521978	T;T	0.12774	2.71;2.65	5.56	5.56	0.83823	.	0.308232	0.22573	N	0.058319	T	0.05640	0.0148	N	0.19112	0.55	0.80722	D	1	P;B	0.35383	0.498;0.361	B;B	0.39660	0.306;0.051	T	0.40403	-0.9565	10	0.13853	T	0.58	-12.3511	17.7137	0.88330	0.0:0.0:1.0:0.0	.	1077;1141	E7ERQ1;Q86UR5	.;RIMS1_HUMAN	N	1077;1077;1141	ENSP00000430408:D1077N;ENSP00000428417:D1141N	ENSP00000326638:D1077N	D	+	1	0	RIMS1	73040795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.015000	0.64035	2.626000	0.88956	0.650000	0.86243	GAT	RIMS1	-	NULL		0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72984074	1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72984074	G	A	72984074	3	1	130	1	0	0	0	0	1	0	0	0	13397	942	33	1	3674	1	RIMS1	6	72984074	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	39702932	72984074	98130993	66	20015										
FIG4	9896	genome.wustl.edu	37	chr6	110146303	110146303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttttatagaacacccatctcGgctttctcgcaagataacat	5	11	2	2	rs1127771	byFrequency	TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:110146303G>A	ENST00000230124.3	+	23	2683	c.2559G>A	c.(2557-2559)tcG>tcA	p.S853S	RP1-249I4.2_ENST00000458693.1_lincRNA|FIG4_ENST00000441478.2_Silent_p.S547S	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	853					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CACCCATCTCGGCTTTCTCGC	0.453													g|||	1982	0.395767	0.0915	0.451	5008	,	,		19345	0.5595		0.4205	False		,,,				2504	0.5736																0								G		652,3754	275.2+/-272.4	52,548,1603	106	103	104		2559	-9.5	0.9	6	dbSNP_119	104	3529,5071	513.3+/-378.1	743,2043,1514	no	coding-synonymous	FIG4	NM_014845.5		795,2591,3117	AA,AG,GG		41.0349,14.798,32.1467		853/908	110146303	4181,8825	2203	4300	6503	SO:0001819	synonymous_variant	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2559G>A	6.37:g.110146303G>A			Q53H49|Q5TCS6	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.S853	ENST00000230124.3	37	c.2559	CCDS5078.1	6																																																																																			FIG4	-	NULL		0.453	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110146303	1	no_errors	ENST00000230124	ensembl	human	known	70_37	silent	SNP	0.327	A	A	110146303	G	A	110146303	2	1	130	1	0	0	0	0	0	0	0	1	5906	1103	39	2		2	FIG4	6	110146303	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	37162229	110146303	60968764	67	20016										
ENPP3	5169	genome.wustl.edu	37	chr6	132004303	132004303	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	catccttctggctgaccatgGtatgcttttaaaaaacattc	6	10	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:132004303G>T	ENST00000414305.1	+	13	1448		c.e13+1		ENPP3_ENST00000358229.5_Splice_Site|ENPP3_ENST00000357639.3_Splice_Site			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3						immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTGACCATGGTATGCTTTTA	0.348																																																	0													160	147	152					6																	132004303		2203	4300	6503	SO:0001630	splice_region_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1120+1G>T	6.37:g.132004303G>T			Q5JTL3	Splice_Site	SNP	-	e12+1	ENST00000414305.1	37	c.1120+1	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195553	0.78902	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6196	0.91316	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP3	132045996	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.762000	0.85270	2.705000	0.92388	0.650000	0.86243	.	ENPP3	-	-		0.348	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	G		Intron	132004303	1	no_errors	ENST00000357639	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	132004303	G	T	132004303	5	4	130	1	0	0	0	0	0	0	1	0	5143	1275	44	4	1167	4	ENPP3	6	132004303	Splice_Site	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	21858000	132004303	39110764	68	20017										
MAP3K5	4217	genome.wustl.edu	37	chr6	136960726	136960726	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aatagatttggaaatcatcaGaattgtgaagcacataaaga	8	4	2	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:136960726G>A	ENST00000359015.4	-	13	2249	c.1889C>T	c.(1888-1890)tCt>tTt	p.S630F	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	630					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAAATCATCAGAATTGTGAAG	0.299																																																	0													62	60	61					6																	136960726		2202	4293	6495	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1889C>T	6.37:g.136960726G>A	ENSP00000351908:p.Ser630Phe		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S630F	ENST00000359015.4	37	c.1889	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461926	0.84425	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72394	-0.65	5.57	5.57	0.84162	.	0.216136	0.48767	D	0.000162	T	0.80014	0.4546	M	0.88031	2.925	0.80722	D	1	P;D	0.55385	0.918;0.971	P;P	0.52159	0.655;0.691	D	0.84130	0.0411	10	0.72032	D	0.01	.	18.3202	0.90236	0.0:0.0:1.0:0.0	.	710;630	Q59GL6;Q99683	.;M3K5_HUMAN	F	630;710	ENSP00000351908:S630F	ENSP00000351908:S630F	S	-	2	0	MAP3K5	137002419	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.346000	0.90060	2.620000	0.88729	0.561000	0.74099	TCT	MAP3K5	-	NULL		0.299	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136960726	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136960726	G	A	136960726	3	1	130	1	0	0	0	0	1	0	0	0	9276	942	33	1	2307	1	MAP3K5	6	136960726	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	4956423	136960726	34154341	69	20018										
SERAC1	84947	genome.wustl.edu	37	chr6	158538838	158538838	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aattcggagagcaggacagtCttttgctaaccatgtctaag	10	8	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:158538838C>G	ENST00000367104.3	-	13	1455	c.1324G>C	c.(1324-1326)Gac>Cac	p.D442H	SERAC1_ENST00000367101.1_Missense_Mutation_p.D442H|SERAC1_ENST00000367102.2_Missense_Mutation_p.D442H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	442					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCAGGACAGTCTTTTGCTAAC	0.403																																																	0													97	93	95					6																	158538838		2203	4300	6503	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1324G>C	6.37:g.158538838C>G	ENSP00000356071:p.Asp442His		Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	pfam_PGAP1-like,superfamily_ARM-type_fold	p.D442H	ENST00000367104.3	37	c.1324	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	.	28.1	4.888540	0.91814	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000435180;ENST00000367101	D;D;D;D	0.95069	-2.94;-3.6;-3.6;-2.94	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.76328	2.33	0.47819	D	0.999523	D	0.89917	1.0	D	0.87578	0.998	D	0.95019	0.8159	10	0.87932	D	0	-27.9969	19.8411	0.96685	0.0:1.0:0.0:0.0	.	442	Q96JX3	SRAC1_HUMAN	H	442;442;17;442	ENSP00000356069:D442H;ENSP00000356071:D442H;ENSP00000391168:D17H;ENSP00000356068:D442H	ENSP00000356068:D442H	D	-	1	0	SERAC1	158458826	1.000000	0.71417	0.400000	0.26346	0.995000	0.86356	7.293000	0.78740	0.122000	0.18314	0.533000	0.62120	GAC	SERAC1	-	pfam_PGAP1-like		0.403	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	C	NM_032861		158538838	-1	no_errors	ENST00000367104	ensembl	human	known	70_37	missense	SNP	0.007	G	G	158538838	C	G	158538838	3	3	130	1	0	0	0	0	1	0	0	0	14104	913	32	1	660	1	SERAC1	6	158538838	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	21578112	158538838	12576229	70	20019										
AIMP2	7965	genome.wustl.edu	37	chr7	6057525	6057525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgcttgtgctgcacaggctGctctgtgagcacttcagggt	13	11	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:6057525G>T	ENST00000223029.3	+	3	542	c.423G>T	c.(421-423)ctG>ctT	p.L141L	AIMP2_ENST00000395236.2_Silent_p.L72L|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Silent_p.L63L	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	141	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGCACAGGCTGCTCTGTGAGC	0.557																																																	0													79	55	63					7																	6057525		2203	4300	6503	SO:0001819	synonymous_variant	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.423G>T	7.37:g.6057525G>T			Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like	p.L141	ENST00000223029.3	37	c.423	CCDS5344.1	7																																																																																			AIMP2	-	NULL		0.557	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	G	NM_006303		6057525	1	no_errors	ENST00000223029	ensembl	human	known	70_37	silent	SNP	0.994	T	T	6057525	G	T	6057525	2	4	130	1	0	0	0	0	0	0	0	1	434	1306	46	4		4	AIMP2	7	6057525	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		6057525	153081138	71	20020										
DGKB	1607	genome.wustl.edu	37	chr7	14216524	14216524	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	attggcagagacttgctcgtCctgggggaaaatatttcatt	11	7	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:14216524C>T	ENST00000403951.2	-	25	2666	c.2247G>A	c.(2245-2247)agG>agA	p.R749R	DGKB_ENST00000402815.1_Splice_Site_p.R748R|DGKB_ENST00000407950.1_Splice_Site_p.R741R|DGKB_ENST00000406247.3_Splice_Site_p.R749R|DGKB_ENST00000258767.5_Splice_Site_p.R749R|DGKB_ENST00000444700.2_Splice_Site_p.R730R|DGKB_ENST00000399322.3_Splice_Site_p.R749R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	749					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ACTTGCTCGTCCTGGGGGAAA	0.408																																																	0													152	141	144					7																	14216524		1875	4117	5992	SO:0001630	splice_region_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2247-1G>A	7.37:g.14216524C>T			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R749	ENST00000403951.2	37	c.2247	CCDS47547.1	7																																																																																			DGKB	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	C	NM_004080	Silent	14216524	-1	no_errors	ENST00000258767	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14216524	C	T	14216524	5	4	130	1	0	0	0	0	0	0	1	0	4476	869	30	1	190	1	DGKB	7	14216524	Splice_Site	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	8158999	14216524	144922139	72	20021										
STEAP4	79689	genome.wustl.edu	37	chr7	87912107	87912107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggtcaagccagtctgggaatCgacggtattttgtgcctcgg	14	9	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:87912107C>T	ENST00000380079.4	-	3	934	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R278Q	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	278	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.R278P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTCTGGGAATCGACGGTATTT	0.478																																																	1	Substitution - Missense(1)	lung(1)											92	89	90					7																	87912107		1970	4149	6119	SO:0001583	missense	79689			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.833G>A	7.37:g.87912107C>T	ENSP00000369419:p.Arg278Gln		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420	p.R278Q	ENST00000380079.4	37	c.833	CCDS43611.1	7	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760737	0.89932	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.91407	-2.84;-2.84	6.08	4.27	0.50696	Flavoprotein transmembrane component (1);	0.102711	0.64402	N	0.000001	D	0.90909	0.7143	M	0.75777	2.31	0.51233	D	0.999915	D;D	0.57257	0.979;0.979	P;P	0.46796	0.527;0.527	D	0.91473	0.5198	10	0.66056	D	0.02	-5.4553	12.1705	0.54155	0.0:0.8637:0.0:0.1363	.	278;278	C9JS50;Q687X5	.;STEA4_HUMAN	Q	278	ENSP00000369419:R278Q;ENSP00000394399:R278Q	ENSP00000369419:R278Q	R	-	2	0	STEAP4	87750043	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	4.968000	0.63728	1.579000	0.49836	0.591000	0.81541	CGA	STEAP4	-	pfam_Fe3_Rdtase_TM_dom		0.478	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP4	HGNC	protein_coding	OTTHUMT00000332712.4	C	NM_024636		87912107	-1	no_errors	ENST00000380079	ensembl	human	known	70_37	missense	SNP	0.997	T	T	87912107	C	T	87912107	3	4	130	1	0	0	0	0	1	0	0	0	15310	884	31	1	558	1	STEAP4	7	87912107	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	73695583	87912107	71226556	73	20022										
LAMB4	22798	genome.wustl.edu	37	chr7	107706884	107706884	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgtctcaggatcacaaagttCagcaaacctattacaagggc	8	10	3	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:107706884C>T	ENST00000388781.3	-	20	2691	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	LAMB4_ENST00000388780.3_Missense_Mutation_p.E870K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E870K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	870	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCACAAAGTTCAGCAAACCTA	0.493																																																	0													68	62	64					7																	107706884		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2608G>A	7.37:g.107706884C>T	ENSP00000373433:p.Glu870Lys		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E870K	ENST00000388781.3	37	c.2608	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778167	0.90195	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.63417	-0.04;-0.04;-0.04	4.98	4.11	0.48088	EGF-like, laminin (3);	0.000000	0.51477	D	0.000089	T	0.61135	0.2323	L	0.55017	1.72	0.80722	D	1	P	0.47484	0.896	P	0.44772	0.46	T	0.66044	-0.6021	10	0.62326	D	0.03	.	13.5157	0.61539	0.0:0.9248:0.0:0.0752	.	870	A4D0S4	LAMB4_HUMAN	K	870	ENSP00000205386:E870K;ENSP00000373433:E870K;ENSP00000373432:E870K	ENSP00000205386:E870K	E	-	1	0	LAMB4	107494120	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	5.438000	0.66550	1.336000	0.45506	0.563000	0.77884	GAA	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	C	XM_209857		107706884	-1	no_errors	ENST00000205386	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107706884	C	T	107706884	3	4	130	1	0	0	0	0	1	0	0	0	8633	835	29	1	2737	1	LAMB4	7	107706884	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	19794777	107706884	51431779	74	20023										
LMOD2	442721	genome.wustl.edu	37	chr7	123303077	123303077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttacaaaatggacaaaaaaaGaaaaaagggaaaaaggtcaa	8	3	1	1	rs78874923		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:123303077G>C	ENST00000458573.2	+	2	1594	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	479	Poly-Lys.					cytoskeleton (GO:0005856)		p.K479N(1)									GACAAAAAAAGAAAAAAGGGA	0.398																																																	1	Substitution - Missense(1)	endometrium(1)											45	43	44					7																	123303077		1803	4015	5818	SO:0001583	missense	442721			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1437G>C	7.37:g.123303077G>C	ENSP00000411932:p.Lys479Asn		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.K479N	ENST00000458573.2	37	c.1437	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266815	0.59540	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	T	0.46063	0.88	5.1	5.1	0.69264	.	.	.	.	.	T	0.53834	0.1821	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	P	0.57911	0.829	T	0.54820	-0.8236	9	0.56958	D	0.05	.	12.2753	0.54730	0.0786:0.0:0.9214:0.0	.	479	Q6P5Q4	LMOD2_HUMAN	N	479;439;430	ENSP00000411932:K479N	ENSP00000405123:K430N	K	+	3	2	LMOD2	123090313	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.540000	0.60664	2.536000	0.85505	0.591000	0.81541	AAG	LMOD2	-	NULL		0.398	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	G			123303077	1	no_errors	ENST00000458573	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123303077	G	C	123303077	3	2	130	1	0	0	0	0	1	0	0	0	8878	933	33	1	1443	1	LMOD2	7	123303077	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	15596193	123303077	35835586	75	20024										
EXOC4	60412	genome.wustl.edu	37	chr7	133502139	133502139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ccaaacagtgtcctcttcgaGagtttctcaccgtgtacatc	7	13	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:133502139G>A	ENST00000253861.4	+	11	1605	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	EXOC4_ENST00000539845.1_Missense_Mutation_p.E425K|EXOC4_ENST00000545148.1_Missense_Mutation_p.E136K|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	526					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCCTCTTCGAGAGTTTCTCAC	0.413																																																	0													79	73	75					7																	133502139		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1576G>A	7.37:g.133502139G>A	ENSP00000253861:p.Glu526Lys		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.E526K	ENST00000253861.4	37	c.1576	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017187	0.54576	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.0	6.0	0.97389	.	0.164624	0.53938	D	0.000055	T	0.53610	0.1807	L	0.38175	1.15	0.80722	D	1	B;B;B	0.26708	0.157;0.082;0.097	B;B;B	0.27076	0.051;0.076;0.023	T	0.50816	-0.8783	9	0.07482	T	0.82	.	20.5595	0.99322	0.0:0.0:1.0:0.0	.	58;136;526	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	K	526;145;425;136	.	ENSP00000253861:E526K	E	+	1	0	EXOC4	133152679	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.960000	0.63673	2.868000	0.98415	0.555000	0.69702	GAG	EXOC4	-	NULL		0.413	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	G	NM_021807		133502139	1	no_errors	ENST00000253861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133502139	G	A	133502139	3	1	130	1	0	0	0	0	1	0	0	0	5318	943	33	1	1627	1	EXOC4	7	133502139	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	10199062	133502139	25636524	76	20025										
JHDM1D	80853	genome.wustl.edu	37	chr7	139791674	139791674	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtggggtgaaggggcaccgaGaaggaagtttcaccaactgg	17	7	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:139791674G>A	ENST00000397560.2	-	19	2758	c.2661C>T	c.(2659-2661)ttC>ttT	p.F887F	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		887					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GGGGCACCGAGAAGGAAGTTT	0.473																																																	0													154	151	152					7																	139791674		1912	4128	6040	SO:0001819	synonymous_variant	80853																														ENST00000397560.2:c.2661C>T	7.37:g.139791674G>A			A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.F887	ENST00000397560.2	37	c.2661	CCDS43658.1	7																																																																																			JHDM1D	-	NULL		0.473	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	G			139791674	-1	no_errors	ENST00000397560	ensembl	human	known	70_37	silent	SNP	0.975	A	A	139791674	G	A	139791674	2	1	130	1	0	0	0	0	0	0	0	1	7968	933	33	1		1	JHDM1D	7	139791674	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6289535	139791674	19346989	77	20026										
TRPV6	55503	genome.wustl.edu	37	chr7	142575435	142575435	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcagatgtcatgggctcaaaGaccagctccggggcagcctc	12	13	3	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:142575435G>C	ENST00000359396.3	-	3	563	c.318C>G	c.(316-318)gtC>gtG	p.V106V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	106					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGGCTCAAAGACCAGCTCCG	0.577																																																	0													83	86	85					7																	142575435		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.318C>G	7.37:g.142575435G>C			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.V106	ENST00000359396.3	37	c.318	CCDS5874.1	7																																																																																			TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	G	NM_014274		142575435	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.983	C	C	142575435	G	C	142575435	2	2	130	1	0	0	0	0	0	0	0	1	16631	929	33	1		1	TRPV6	7	142575435	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2783761	142575435	16563228	78	20027										
INSIG1	3638	genome.wustl.edu	37	chr7	155095546	155095546	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttttgccagctgatacccttCtgtgaggagttgaatttgaa	10	7	1	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:155095546C>T	ENST00000340368.4	+	5	1015				INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Silent_p.F120F	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1						cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATACCCTTCTGTGAGGAGT	0.403																																																	0													92	92	92					7																	155095546		2203	4300	6503	SO:0001627	intron_variant	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.804+990C>T	7.37:g.155095546C>T			A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	pfam_INSIG_fam	p.F120	ENST00000340368.4	37	c.360	CCDS5938.1	7																																																																																			INSIG1	-	NULL		0.403	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	C	NM_198336		155095546	1	no_errors	ENST00000344756	ensembl	human	known	70_37	silent	SNP	0.000	T	T	155095546	C	T	155095546	1	4	130	0	1	0	0	0	0	0	0	0	7785	912	32	1		1	INSIG1	7	155095546	Intron	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	12520111	155095546	4043117	79	20028										
CSMD1	64478	genome.wustl.edu	37	chr8	3263717	3263717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tccgtttataggaatgccagGatcatggcactcattctgac	9	10	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:3263717G>A	ENST00000520002.1	-	16	2656	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S	CSMD1_ENST00000539096.1_Missense_Mutation_p.P700S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P701S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P700S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P701S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P700S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P701S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	701	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAATGCCAGGATCATGGCAC	0.383																																																	0													40	39	39					8																	3263717		1848	4087	5935	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2101C>T	8.37:g.3263717G>A	ENSP00000430733:p.Pro701Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P701S	ENST00000520002.1	37	c.2101		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.78|18.78	3.697015|3.697015	0.68386|0.68386	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91324|0.91324	0.7264|0.7264	H|H	0.98849|0.98849	4.35|4.35	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.94720|0.94720	0.7900|0.7900	10|5	0.87932|.	D|.	0|.	.|.	19.2979|19.2979	0.94131|0.94131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	701;701|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	S|F	701;701;563;700;700;700|180	ENSP00000383047:P701S;ENSP00000430733:P701S;ENSP00000441462:P700S;ENSP00000446243:P700S;ENSP00000441675:P700S|.	ENSP00000320445:P563S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	3251124|3251124	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.131000|0.131000	0.20780|0.20780	9.604000|9.604000	0.98317|0.98317	2.534000|2.534000	0.85438|0.85438	0.655000|0.655000	0.94253|0.94253	CCT|TCC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3263717	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3263717	G	A	3263717	3	1	130	1	0	0	0	0	1	0	0	0	3949	1174	41	1	8820	1	CSMD1	8	3263717	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		3263717	143100305	80	20029										
EBF2	64641	genome.wustl.edu	37	chr8	25897612	25897612	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttattctgtccctcgtaagcGatgggctgtgaaggaggtag	14	7	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:25897612G>A	ENST00000520164.1	-	5	951	c.414C>T	c.(412-414)atC>atT	p.I138I	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	138					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCTCGTAAGCGATGGGCTGTG	0.537																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													118	118	118					8																	25897612		1947	4147	6094	SO:0001819	synonymous_variant	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.414C>T	8.37:g.25897612G>A			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.I138	ENST00000520164.1	37	c.414	CCDS43726.1	8																																																																																			EBF2	-	NULL		0.537	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	G	NM_022659		25897612	-1	no_errors	ENST00000520164	ensembl	human	known	70_37	silent	SNP	0.980	A	A	25897612	G	A	25897612	2	1	130	1	0	0	0	0	0	0	0	1	4891	1048	37	1		1	EBF2	8	25897612	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	22633895	25897612	120466410	81	20030										
ASAP1	50807	genome.wustl.edu	37	chr8	131073096	131073096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtaagtctgagagttggggtTtgggtggcaggtcccccagc	17	8	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:131073096T>C	ENST00000518721.1	-	28	3148	c.2921A>G	c.(2920-2922)aAa>aGa	p.K974R	ASAP1_ENST00000357668.1_Missense_Mutation_p.K974R	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	974	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAGTTGGGGTTTGGGTGGCAG	0.582																																																	0													86	96	93					8																	131073096		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2921A>G	8.37:g.131073096T>C	ENSP00000429900:p.Lys974Arg		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.K974R	ENST00000518721.1	37	c.2921	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920294	0.73098	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.05925	3.37;3.37	5.62	4.48	0.54585	.	0.271829	0.41001	D	0.000966	T	0.18882	0.0453	M	0.65975	2.015	0.58432	D	0.999994	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.78314	0.98;0.98;0.991	T	0.03807	-1.1002	10	0.21014	T	0.42	.	10.4797	0.44687	0.0:0.0753:0.0:0.9247	.	974;974;977	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	R	977;974;974	ENSP00000350297:K974R;ENSP00000429900:K974R	ENSP00000344591:K977R	K	-	2	0	ASAP1	131142278	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.571000	0.82399	0.978000	0.38470	0.459000	0.35465	AAA	ASAP1	-	prints_p67phox		0.582	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	T	NM_018482		131073096	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131073096	T	C	131073096	3	2	130	1	0	0	0	0	1	0	0	0	1011	1841	64	5	480	5	ASAP1	8	131073096	Missense_Mutation	SNP	T	TCGA-FU-A3HY-01A-11D-A21Q-09	105175484	131073096	15290926	82	20031										
FAM135B	51059	genome.wustl.edu	37	chr8	139190862	139190862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aggaactgggtccacagagtCatcatgtgggacgtgagcca	14	9	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:139190862C>G	ENST00000395297.1	-	10	1115	c.945G>C	c.(943-945)atG>atC	p.M315I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	315										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCACAGAGTCATCATGTGGG	0.527										HNSCC(54;0.14)																																							0													138	138	138					8																	139190862		2060	4202	6262	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.945G>C	8.37:g.139190862C>G	ENSP00000378710:p.Met315Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.M315I	ENST00000395297.1	37	c.945	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735862	0.15574	.	.	ENSG00000147724	ENST00000395297	D	0.85013	-1.93	5.26	5.26	0.73747	.	0.195067	0.46442	D	0.000291	T	0.74711	0.3752	N	0.14661	0.345	0.28242	N	0.925625	P	0.35656	0.514	B	0.39217	0.294	T	0.67522	-0.5649	10	0.24483	T	0.36	-27.9818	12.466	0.55759	0.0:0.8313:0.1687:0.0	.	315	Q49AJ0	F135B_HUMAN	I	315	ENSP00000378710:M315I	ENSP00000276737:M315I	M	-	3	0	FAM135B	139260044	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	0.871000	0.28023	2.616000	0.88540	0.561000	0.74099	ATG	FAM135B	-	pfam_DUF3657		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	C	NM_015912		139190862	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139190862	C	G	139190862	3	3	130	1	0	0	0	0	1	0	0	0	5464	826	29	1	3319	1	FAM135B	8	139190862	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	8117766	139190862	7173160	83	20032										
CNTLN	54875	genome.wustl.edu	37	chr9	17273770	17273770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttgaagcaaggaaagaagttGaagtatcacagagtaaatac	10	4	1	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:17273770G>C	ENST00000380647.3	+	6	973	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	CNTLN_ENST00000380641.4_Missense_Mutation_p.E297Q|CNTLN_ENST00000262360.5_Missense_Mutation_p.E297Q|CNTLN_ENST00000425824.1_Missense_Mutation_p.E297Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	297					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAGAAGTTGAAGTATCACA	0.308																																																	0													99	100	100					9																	17273770		1824	4075	5899	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.889G>C	9.37:g.17273770G>C	ENSP00000370021:p.Glu297Gln		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E297Q	ENST00000380647.3	37	c.889	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398583	0.42512	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;3.21;2.84	4.48	3.57	0.40892	.	.	.	.	.	T	0.22627	0.0546	M	0.62723	1.935	0.25382	N	0.988606	P;P;D	0.63880	0.539;0.539;0.993	B;B;P	0.59424	0.2;0.2;0.857	T	0.04752	-1.0929	9	0.44086	T	0.13	.	7.8172	0.29267	0.0912:0.1655:0.7434:0.0	.	297;297;297	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	Q	297	ENSP00000370021:E297Q;ENSP00000392798:E297Q;ENSP00000262360:E297Q;ENSP00000370015:E297Q	ENSP00000262360:E297Q	E	+	1	0	CNTLN	17263770	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.802000	0.55553	0.981000	0.38548	0.305000	0.20034	GAA	CNTLN	-	NULL		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17273770	1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17273770	G	C	17273770	3	2	130	1	0	0	0	0	1	0	0	0	3644	1291	45	1	911	1	CNTLN	9	17273770	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		17273770	123939661	84	20033										
LRRC19	64922	genome.wustl.edu	37	chr9	26995626	26995626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aaatattactgtagtttcttCagagtttgtttctggtatct	7	5	4	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:26995626C>T	ENST00000380055.5	-	5	1116	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	336						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GTAGTTTCTTCAGAGTTTGTT	0.328																																																	0													112	115	114					9																	26995626		2203	4300	6503	SO:0001583	missense	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.1006G>A	9.37:g.26995626C>T	ENSP00000369395:p.Glu336Lys		A0AV00|B9EG91	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E336K	ENST00000380055.5	37	c.1006	CCDS6518.1	9	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465668	0.43839	.	.	ENSG00000184434	ENST00000380055	T	0.50813	0.73	5.55	3.69	0.42338	.	0.326552	0.26792	N	0.022470	T	0.31702	0.0805	N	0.24115	0.695	0.32401	N	0.551987	B	0.10296	0.003	B	0.08055	0.003	T	0.30238	-0.9985	10	0.51188	T	0.08	-4.1638	8.5557	0.33480	0.0:0.7314:0.1263:0.1423	.	336	Q9H756	LRC19_HUMAN	K	336	ENSP00000369395:E336K	ENSP00000369395:E336K	E	-	1	0	LRRC19	26985626	0.995000	0.38212	0.922000	0.36590	0.798000	0.45092	1.199000	0.32235	0.694000	0.31654	0.585000	0.79938	GAA	LRRC19	-	NULL		0.328	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC19	HGNC	protein_coding	OTTHUMT00000051961.2	C	NM_022901		26995626	-1	no_errors	ENST00000380055	ensembl	human	known	70_37	missense	SNP	0.904	T	T	26995626	C	T	26995626	3	4	130	1	0	0	0	0	1	0	0	0	8998	835	29	1	110	1	LRRC19	9	26995626	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	9721856	26995626	114217805	85	20034										
EXOSC3	51010	genome.wustl.edu	37	chr9	37780697	37780697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	caactttctgccaatctggaGaagatctgttttctttgatc	7	9	4	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:37780697G>C	ENST00000327304.5	-	4	819	c.807C>G	c.(805-807)ttC>ttG	p.F269L	EXOSC3_ENST00000396521.3_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	269					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CCAATCTGGAGAAGATCTGTT	0.378																																																	0													93	89	90					9																	37780697		2203	4300	6503	SO:0001583	missense	51010			BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.807C>G	9.37:g.37780697G>C	ENSP00000323046:p.Phe269Leu		A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	NULL	p.F269L	ENST00000327304.5	37	c.807	CCDS35016.1	9	.	.	.	.	.	.	.	.	.	.	G	4.189	0.033822	0.08101	.	.	ENSG00000107371	ENST00000327304	T	0.61392	0.11	5.51	1.12	0.20585	.	0.093959	0.64402	D	0.000001	T	0.27967	0.0689	N	0.11427	0.14	0.80722	D	1	B	0.17667	0.023	B	0.16289	0.015	T	0.03000	-1.1084	10	0.16896	T	0.51	-2.9761	3.1028	0.06331	0.4772:0.0:0.3266:0.1962	.	269	Q9NQT5	EXOS3_HUMAN	L	269	ENSP00000323046:F269L	ENSP00000323046:F269L	F	-	3	2	EXOSC3	37770697	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.618000	0.24373	0.694000	0.31654	-0.136000	0.14681	TTC	EXOSC3	-	NULL		0.378	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC3	HGNC	protein_coding	OTTHUMT00000052478.3	G	NM_016042		37780697	-1	no_errors	ENST00000327304	ensembl	human	known	70_37	missense	SNP	0.997	C	C	37780697	G	C	37780697	3	2	130	1	0	0	0	0	1	0	0	0	5328	933	33	1	24	1	EXOSC3	9	37780697	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	10785071	37780697	103432734	86	20035										
ZNF658	26149	genome.wustl.edu	37	chr9	40774032	40774032	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aaaggattttgcacattcctCatattggtaagttttctctc	6	8	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:40774032C>T	ENST00000602553.1	-	5	1537	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E415K|ZNF658_ENST00000441795.1_Missense_Mutation_p.E413K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCACATTCCTCATATTGGTAA	0.408																																																	0													148	151	150					9																	40774032		2203	4300	6503	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1243G>A	9.37:g.40774032C>T	ENSP00000473484:p.Glu415Lys		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E415K	ENST00000602553.1	37	c.1243	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	11.44	1.640026	0.29157	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.15256	2.44;2.44	1.96	-1.93	0.07594	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	N	0.01679	-0.765	0.09310	N	1	B;B	0.24258	0.1;0.03	B;B	0.19666	0.026;0.008	T	0.36529	-0.9744	9	0.02654	T	1	.	3.1435	0.06463	0.2024:0.2788:0.0:0.5188	.	415;415	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	K	413;415	ENSP00000408462:E413K;ENSP00000366853:E415K	ENSP00000366853:E415K	E	-	1	0	ZNF658	40764032	0.000000	0.05858	0.000000	0.03702	0.482000	0.33219	-3.714000	0.00385	-0.518000	0.06452	0.384000	0.25694	GAG	ZNF658	-	NULL		0.408	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	C	NM_033160		40774032	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40774032	C	T	40774032	3	4	130	1	0	0	0	0	1	0	0	0	18099	835	29	1	1940	1	ZNF658	9	40774032	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2993335	40774032	100439399	87	20036										
OR13C4	138804	genome.wustl.edu	37	chr9	107289124	107289124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agggttacagatggccacatAacgatcaaatgccatcatgc	9	10	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:107289124A>G	ENST00000277216.3	-	1	366	c.367T>C	c.(367-369)Tat>Cat	p.Y123H		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGGCCACATAACGATCAAAT	0.443																																																	0													177	147	157					9																	107289124		2203	4300	6503	SO:0001583	missense	138804				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.367T>C	9.37:g.107289124A>G	ENSP00000277216:p.Tyr123His		Q6IF51|Q96R41	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y123H	ENST00000277216.3	37	c.367	CCDS35088.1	9	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990013	0.35131	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.02103	4.45	4.44	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.171999	0.27787	U	0.017843	T	0.11067	0.0270	M	0.91249	3.19	0.26974	N	0.965527	D	0.63880	0.993	P	0.56960	0.81	T	0.05194	-1.0900	10	0.87932	D	0	.	8.6474	0.34013	0.8286:0.0:0.0:0.1714	.	123	Q8NGS5	O13C4_HUMAN	H	123;152	ENSP00000277216:Y123H	ENSP00000277216:Y123H	Y	-	1	0	OR13C4	106328945	0.999000	0.42202	0.129000	0.21949	0.262000	0.26303	5.983000	0.70540	0.795000	0.33922	0.477000	0.44152	TAT	OR13C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	HGNC	protein_coding	OTTHUMT00000053478.1	A			107289124	-1	no_errors	ENST00000277216	ensembl	human	known	70_37	missense	SNP	0.894	G	G	107289124	A	G	107289124	3	3	130	1	0	0	0	0	1	0	0	0	10960	362	13	5	591	5	OR13C4	9	107289124	Missense_Mutation	SNP	A	TCGA-FU-A3HY-01A-11D-A21Q-09	66515092	107289124	33924307	88	20037										
ITIH2	3698	genome.wustl.edu	37	chr10	7791170	7791170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gggcttacagaaagactacaGaacggatctagtgtttggaa	12	6	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:7791170G>A	ENST00000358415.4	+	21	2880	c.2714G>A	c.(2713-2715)aGa>aAa	p.R905K	ITIH2_ENST00000379587.4_Missense_Mutation_p.R894K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	905					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAAGACTACAGAACGGATCTA	0.488																																																	0													223	191	202					10																	7791170		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2714G>A	10.37:g.7791170G>A	ENSP00000351190:p.Arg905Lys		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R905K	ENST00000358415.4	37	c.2714	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611069	0.87258	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11821	2.74;2.74	5.49	5.49	0.81192	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	M	0.88704	2.975	0.47698	D	0.999499	D	0.55605	0.972	P	0.58721	0.844	T	0.33650	-0.9860	10	0.59425	D	0.04	-24.0119	12.6891	0.56964	0.0755:0.0:0.9245:0.0	.	905	P19823	ITIH2_HUMAN	K	905;894	ENSP00000351190:R905K;ENSP00000368906:R894K	ENSP00000351190:R905K	R	+	2	0	ITIH2	7831176	1.000000	0.71417	0.950000	0.38849	0.547000	0.35210	7.631000	0.83237	2.573000	0.86826	0.561000	0.74099	AGA	ITIH2	-	pfam_ITI_HC_C		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	G	NM_002216		7791170	1	no_errors	ENST00000358415	ensembl	human	known	70_37	missense	SNP	0.998	A	A	7791170	G	A	7791170	3	1	130	1	0	0	0	0	1	0	0	0	7924	942	33	1	2796	1	ITIH2	10	7791170	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		7791170	127743577	89	20038										
BMI1	648	genome.wustl.edu	37	chr10	22616899	22616899	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgccaatggctctaatgaaGatagaggagaggttgcagat	13	6	1	5			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:22616899G>C	ENST00000376663.3	+	6	842	c.337G>C	c.(337-339)Gat>Cat	p.D113H	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D256H	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	113					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CTCTAATGAAGATAGAGGAGA	0.303																																																	0													86	94	92					10																	22616899		2202	4294	6496	SO:0001583	missense	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.337G>C	10.37:g.22616899G>C	ENSP00000365851:p.Asp113His		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D113H	ENST00000376663.3	37	c.337	CCDS7138.1	10	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544668	0.86022	.	.	ENSG00000168283	ENST00000417470;ENST00000376663;ENST00000442508	T;T	0.34275	1.37;1.84	6.02	6.02	0.97574	.	0.042575	0.85682	D	0.000000	T	0.56731	0.2005	M	0.67953	2.075	0.80722	D	1	P;B	0.50443	0.935;0.295	P;B	0.57009	0.811;0.184	T	0.51818	-0.8657	10	0.51188	T	0.08	-13.1382	20.1511	0.98086	0.0:0.0:1.0:0.0	.	113;113	Q5U0M5;P35226	.;BMI1_HUMAN	H	113	ENSP00000365851:D113H;ENSP00000397912:D113H	ENSP00000365851:D113H	D	+	1	0	BMI1	22656905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.432000	0.97498	2.865000	0.98341	0.655000	0.94253	GAT	BMI1	-	NULL		0.303	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	G	NM_005180		22616899	1	no_errors	ENST00000376663	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22616899	G	C	22616899	3	2	130	1	0	0	0	0	1	0	0	0	1456	942	33	1	355	1	BMI1	10	22616899	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	14825729	22616899	112917848	90	20039										
SEC24C	9632	genome.wustl.edu	37	chr10	75527640	75527640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cctatcagaccctggccaaaGagtgtgtggcccaaggctgc	12	13	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:75527640G>C	ENST00000339365.2	+	16	2218	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.E686Q|SEC24C_ENST00000411652.2_Missense_Mutation_p.E567Q|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	686					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCTGGCCAAAGAGTGTGTGGC	0.527																																																	0													159	147	151					10																	75527640		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2056G>C	10.37:g.75527640G>C	ENSP00000343405:p.Glu686Gln		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.E686Q	ENST00000339365.2	37	c.2056	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616448	0.66672	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.75367	-0.93;-0.93;-0.93	5.98	5.08	0.68730	Sec23/Sec24, trunk domain (1);	0.196548	0.56097	N	0.000035	T	0.70509	0.3232	L	0.46157	1.445	0.80722	D	1	B;B;B	0.32409	0.155;0.37;0.256	B;B;B	0.32022	0.022;0.114;0.139	T	0.71286	-0.4638	10	0.59425	D	0.04	-15.4984	17.409	0.87480	0.0:0.1244:0.8756:0.0	.	567;686;686	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	Q	686;686;567	ENSP00000321845:E686Q;ENSP00000343405:E686Q;ENSP00000402913:E567Q	ENSP00000343405:E686Q	E	+	1	0	SEC24C	75197646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	1.538000	0.49270	0.591000	0.81541	GAG	SEC24C	-	pfam_Sec23/24_trunk_dom		0.527	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75527640	1	no_errors	ENST00000339365	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75527640	G	C	75527640	3	2	130	1	0	0	0	0	1	0	0	0	14026	943	33	1	2110	1	SEC24C	10	75527640	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	52910741	75527640	60007107	91	20040										
SLIT1	6585	genome.wustl.edu	37	chr10	98773558	98773558	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gacatgggttcagatccggaGagcacaagtccaccagctgc	12	12	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:98773558G>C	ENST00000266058.4	-	30	3388	c.3143C>G	c.(3142-3144)tCt>tGt	p.S1048C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S1048C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1048	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGATCCGGAGAGCACAAGTC	0.637																																																	0													63	47	53					10																	98773558		2023	3846	5869	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3143C>G	10.37:g.98773558G>C	ENSP00000266058:p.Ser1048Cys		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1048C	ENST00000266058.4	37	c.3143	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	10.18	1.277972	0.23307	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.91124	-2.79;-2.79	4.01	3.1	0.35709	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.179636	0.49916	D	0.000122	D	0.89199	0.6647	M	0.77486	2.375	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	D	0.85230	0.1032	10	0.37606	T	0.19	.	11.2894	0.49241	0.0894:0.0:0.9106:0.0	.	1048	O75093	SLIT1_HUMAN	C	1048	ENSP00000266058:S1048C;ENSP00000360109:S1048C	ENSP00000266058:S1048C	S	-	2	0	SLIT1	98763548	1.000000	0.71417	0.577000	0.28562	0.268000	0.26511	8.468000	0.90393	0.889000	0.36185	0.561000	0.74099	TCT	SLIT1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.637	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	G	NM_003061		98773558	-1	no_errors	ENST00000266058	ensembl	human	known	70_37	missense	SNP	0.985	C	C	98773558	G	C	98773558	3	2	130	1	0	0	0	0	1	0	0	0	14769	942	33	1	1493	1	SLIT1	10	98773558	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	23245918	98773558	36761189	92	20041										
PHRF1	57661	genome.wustl.edu	37	chr11	605255	605255	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agcggatattggagctgcctCtctgtctctgtttggagatc	12	9	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:605255C>G	ENST00000264555.5	+	11	1417	c.1289C>G	c.(1288-1290)tCt>tGt	p.S430C	PHRF1_ENST00000413872.2_Missense_Mutation_p.S429C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S426C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S430C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	430					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAGCTGCCTCTCTGTCTCTG	0.607																																																	0													81	89	86					11																	605255		2048	4191	6239	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1289C>G	11.37:g.605255C>G	ENSP00000264555:p.Ser430Cys		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S430C	ENST00000264555.5	37	c.1289		11	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380546	0.61845	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.85556	-2.0;-1.98;-2.0;-2.0	4.65	4.65	0.58169	.	0.203028	0.24657	N	0.036675	D	0.87752	0.6256	L	0.29908	0.895	0.49130	D	0.999756	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	P;D;D;P	0.65874	0.87;0.939;0.939;0.87	D	0.89468	0.3741	10	0.72032	D	0.01	-10.369	17.7029	0.88300	0.0:1.0:0.0:0.0	.	426;429;430;430	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	430;429;430;426	ENSP00000264555:S430C;ENSP00000388589:S429C;ENSP00000410626:S430C;ENSP00000431870:S426C	ENSP00000264555:S430C	S	+	2	0	PHRF1	595255	0.825000	0.29262	0.018000	0.16275	0.323000	0.28346	7.046000	0.76592	2.398000	0.81561	0.563000	0.77884	TCT	PHRF1	-	NULL		0.607	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		605255	1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	0.922	G	G	605255	C	G	605255	3	3	130	1	0	0	0	0	1	0	0	0	11885	913	32	1	1327	1	PHRF1	11	605255	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09		605255	134401261	93	20042										
NLRP14	338323	genome.wustl.edu	37	chr11	7079068	7079068	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gacatccaaagtgttatctaGagagactgtcgtgagtgttt	11	6	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:7079068G>C	ENST00000299481.4	+	7	2798	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	818					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTTATCTAGAGAGACTGTC	0.403																																																	0													209	185	193					11																	7079068		2201	4296	6497	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2452G>C	11.37:g.7079068G>C	ENSP00000299481:p.Glu818Gln		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E818Q	ENST00000299481.4	37	c.2452	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.934090	0.02340	.	.	ENSG00000158077	ENST00000299481	T	0.17054	2.3	4.89	0.125	0.14718	.	0.327553	0.22193	N	0.063344	T	0.07593	0.0191	N	0.21240	0.645	0.20403	N	0.999902	B	0.25563	0.129	B	0.19666	0.026	T	0.39663	-0.9603	10	0.07482	T	0.82	.	6.2981	0.21097	0.1934:0.5073:0.2992:0.0	.	818	Q86W24	NAL14_HUMAN	Q	818	ENSP00000299481:E818Q	ENSP00000299481:E818Q	E	+	1	0	NLRP14	7035644	0.206000	0.23470	0.257000	0.24404	0.977000	0.68977	-0.251000	0.08818	0.153000	0.19213	0.585000	0.79938	GAG	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	G	NM_176822		7079068	1	no_errors	ENST00000299481	ensembl	human	known	70_37	missense	SNP	0.192	C	C	7079068	G	C	7079068	3	2	130	1	0	0	0	0	1	0	0	0	10500	943	33	1	2474	1	NLRP14	11	7079068	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6473813	7079068	127927448	94	20043										
NAV2	89797	genome.wustl.edu	37	chr11	20005703	20005703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tggtggacttggcctctataCccgtcgcctgaaccggctcc	11	15	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:20005703C>A	ENST00000396087.3	+	12	2846	c.2747C>A	c.(2746-2748)aCc>aAc	p.T916N	NAV2_ENST00000527559.2_Missense_Mutation_p.T845N|NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.T893N|NAV2_ENST00000540292.1_Missense_Mutation_p.T847N|NAV2_ENST00000396085.1_Missense_Mutation_p.T893N|NAV2_ENST00000360655.4_Missense_Mutation_p.T829N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	916					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGCCTCTATACCCGTCGCCTG	0.527																																																	0													143	136	139					11																	20005703		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2747C>A	11.37:g.20005703C>A	ENSP00000379396:p.Thr916Asn		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T916N	ENST00000396087.3	37	c.2747	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809729	0.90707	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.35421	1.31;1.42;1.42;1.42;1.33;1.32	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.50326	0.1609	L	0.38175	1.15	0.80722	D	1	P;D	0.76494	0.537;0.999	B;D	0.66979	0.321;0.948	T	0.28681	-1.0036	9	.	.	.	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	893;829	Q8IVL1-3;Q8IVL1-4	.;.	N	829;893;893;916;845;847	ENSP00000353871:T829N;ENSP00000379394:T893N;ENSP00000309577:T893N;ENSP00000379396:T916N;ENSP00000435395:T845N;ENSP00000443489:T847N	.	T	+	2	0	NAV2	19962279	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.801000	0.75170	2.824000	0.97209	0.655000	0.94253	ACC	NAV2	-	NULL		0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20005703	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20005703	C	A	20005703	3	1	130	1	0	0	0	0	1	0	0	0	10207	507	18	4	2799	4	NAV2	11	20005703	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	12926635	20005703	115000813	95	20044										
MAPK8IP1	9479	genome.wustl.edu	37	chr11	45919684	45919684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tttgaggatgaagacctctcGgagatcactgatgagtgtgg	14	6	2	6	rs190170522		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:45919684G>A	ENST00000241014.2	+	2	320	c.150G>A	c.(148-150)tcG>tcA	p.S50S	MAPK8IP1_ENST00000395629.2_Silent_p.S40S	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	50					JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AAGACCTCTCGGAGATCACTG	0.557																																																	0													141	108	119					11																	45919684		2203	4299	6502	SO:0001819	synonymous_variant	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.150G>A	11.37:g.45919684G>A			D3DQP4|O43407	Silent	SNP	pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.S50	ENST00000241014.2	37	c.150	CCDS7916.1	11																																																																																			MAPK8IP1	-	NULL		0.557	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP1	HGNC	protein_coding	OTTHUMT00000259405.1	G	NM_005456		45919684	1	no_errors	ENST00000241014	ensembl	human	known	70_37	silent	SNP	0.076	A	A	45919684	G	A	45919684	2	1	130	1	0	0	0	0	0	0	0	1	9307	1103	39	2		2	MAPK8IP1	11	45919684	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	25913981	45919684	89086832	96	20045										
OR8I2	120586	genome.wustl.edu	37	chr11	55861336	55861336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtgacaccacagctcttttaGcactctcctgtgtagataca	7	12	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:55861336G>T	ENST00000302124.2	+	1	584	c.553G>T	c.(553-555)Gca>Tca	p.A185S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCTCTTTTAGCACTCTCCTG	0.428																																																	0													151	140	143					11																	55861336		2201	4296	6497	SO:0001583	missense	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.553G>T	11.37:g.55861336G>T	ENSP00000303864:p.Ala185Ser		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A185S	ENST00000302124.2	37	c.553	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	G	6.932	0.541783	0.13250	.	.	ENSG00000172154	ENST00000302124	T	0.00069	8.77	4.33	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.187239	0.25729	N	0.028691	T	0.00109	0.0003	L	0.41906	1.305	0.09310	N	1	B	0.20550	0.046	B	0.18263	0.021	T	0.25745	-1.0123	10	0.23891	T	0.37	-7.9432	2.5085	0.04651	0.1656:0.1526:0.5251:0.1567	.	185	Q8N0Y5	OR8I2_HUMAN	S	185	ENSP00000303864:A185S	ENSP00000303864:A185S	A	+	1	0	OR8I2	55617912	0.002000	0.14202	0.064000	0.19789	0.041000	0.13682	1.553000	0.36255	0.317000	0.23160	-0.570000	0.04155	GCA	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.428	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		G	NM_001003750		55861336	1	no_errors	ENST00000302124	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55861336	G	T	55861336	3	4	130	1	0	0	0	0	1	0	0	0	11264	971	34	4	555	4	OR8I2	11	55861336	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	9941652	55861336	79145180	97	20046										
RTN4RL2	349667	genome.wustl.edu	37	chr11	57235245	57235245	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ccacccagcactcagcgactCttcctgcagaacaacctcat	5	18	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:57235245C>G	ENST00000533205.1	+	2	204	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RTN4RL2_ENST00000395120.2_Silent_p.L65L|RTN4RL2_ENST00000335099.3_Silent_p.L65L					reticulon 4 receptor-like 2									p.L65L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCAGCGACTCTTCCTGCAGA	0.617																																																	1	Substitution - coding silent(1)	lung(1)											180	157	165					11																	57235245		2201	4296	6497	SO:0001819	synonymous_variant	349667			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.195C>G	11.37:g.57235245C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L65	ENST00000533205.1	37	c.195		11																																																																																			RTN4RL2	-	smart_Leu-rich_rpt_typical-subtyp		0.617	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	RTN4RL2	HGNC	protein_coding	OTTHUMT00000392538.1	C	NM_178570		57235245	1	no_errors	ENST00000335099	ensembl	human	known	70_37	silent	SNP	1.000	G	G	57235245	C	G	57235245	2	3	130	1	0	0	0	0	0	0	0	1	13762	900	32	1		1	RTN4RL2	11	57235245	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1373909	57235245	77771271	98	20047										
MS4A6A	64231	genome.wustl.edu	37	chr11	59940572	59940572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agctaggcagaattccagcaGagtgcaaatcagcatcagag	11	9	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:59940572G>T	ENST00000530839.1	-	7	1072	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	MS4A6A_ENST00000412309.2_Missense_Mutation_p.L222M|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S95Y|MS4A6A_ENST00000529054.1_Missense_Mutation_p.L222M|MS4A6A_ENST00000323961.3_Missense_Mutation_p.L194M|MS4A6A_ENST00000528851.1_Missense_Mutation_p.L194M|MS4A6A_ENST00000426738.2_Missense_Mutation_p.L149M|MS4A6A_ENST00000420732.2_Missense_Mutation_p.S159Y	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	194						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCCAGCAGAGTGCAAATC	0.502																																																	0													153	138	143					11																	59940572		2201	4295	6496	SO:0001583	missense	64231			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.580C>A	11.37:g.59940572G>T	ENSP00000436979:p.Leu194Met		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.L194M	ENST00000530839.1	37	c.580	CCDS7981.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.890|9.890	1.203941|1.203941	0.22121|0.22121	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000530839;ENST00000533989;ENST00000529054;ENST00000426738;ENST00000412309|ENST00000420732;ENST00000533023	T;T;T;T;T;T|T;T	0.02525|0.27720	4.26;4.26;4.26;4.26;4.26;4.26|2.95;1.65	4.51|4.51	-4.23|-4.23	0.03789|0.03789	.|.	0.723058|.	0.12685|.	N|.	0.447619|.	T|T	0.09642|0.09642	0.0237|0.0237	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;P;B;P|B	0.40731|0.23735	0.728;0.513;0.425;0.728|0.09	P;B;P;P|B	0.46758|0.26693	0.526;0.392;0.526;0.526|0.072	T|T	0.31336|0.31336	-0.9947|-0.9947	9|8	0.45353|0.02654	T|T	0.12|1	.|.	3.7269|3.7269	0.08478|0.08478	0.114:0.3841:0.3456:0.1563|0.114:0.3841:0.3456:0.1563	.|.	149;222;222;194|159	E7EMT7;F8W9K1;E9PSA9;Q9H2W1|Q9H2W1-3	.;.;.;M4A6A_HUMAN|.	M|Y	194;194;194;94;222;149;222|159;95	ENSP00000315878:L194M;ENSP00000431901:L194M;ENSP00000436979:L194M;ENSP00000435844:L222M;ENSP00000392770:L149M;ENSP00000403212:L222M|ENSP00000392921:S159Y;ENSP00000436172:S95Y	ENSP00000315878:L194M|ENSP00000392921:S159Y	L|S	-|-	1|2	2|0	MS4A6A|MS4A6A	59697148|59697148	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.008000|-1.008000	0.03663|0.03663	-0.981000|-0.981000	0.03520|0.03520	-0.782000|-0.782000	0.03352|0.03352	CTG|TCT	MS4A6A	-	pfam_CD20-like		0.502	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	G			59940572	-1	no_errors	ENST00000323961	ensembl	human	known	70_37	missense	SNP	0.000	T	T	59940572	G	T	59940572	3	4	130	1	0	0	0	0	1	0	0	0	9887	942	33	3	201	3	MS4A6A	11	59940572	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2705327	59940572	75065944	99	20048										
DAGLA	747	genome.wustl.edu	37	chr11	61504725	61504725	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gcgggcactgctgccatcctCtccttccttctgcgcccaca	8	19	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:61504725C>G	ENST00000257215.5	+	14	1559	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	481					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGCCATCCTCTCCTTCCTTC	0.642																																																	0													153	162	159					11																	61504725		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1443C>G	11.37:g.61504725C>G			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.L481	ENST00000257215.5	37	c.1443	CCDS31578.1	11																																																																																			DAGLA	-	pfam_Lipase_3		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	C	NM_006133		61504725	1	no_errors	ENST00000257215	ensembl	human	known	70_37	silent	SNP	1.000	G	G	61504725	C	G	61504725	2	3	130	1	0	0	0	0	0	0	0	1	4231	900	32	1		1	DAGLA	11	61504725	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1564153	61504725	73501791	100	20049										
NXF1	10482	genome.wustl.edu	37	chr11	62571442	62571442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agggaaattaacgcgttcatCatcgtgttctagagttagaa	10	6	3	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:62571442C>G	ENST00000532297.1	-	3	666	c.37G>C	c.(37-39)Gat>Cat	p.D13H	NXF1_ENST00000439713.2_Missense_Mutation_p.D13H|NXF1_ENST00000294172.2_Missense_Mutation_p.D13H|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.D13H			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	13	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGCGTTCATCATCGTGTTCT	0.453																																																	0													102	107	105					11																	62571442		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.37G>C	11.37:g.62571442C>G	ENSP00000436679:p.Asp13His		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D13H	ENST00000532297.1	37	c.37	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468976	0.84533	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.57436	0.66;0.66;0.44;0.4	4.82	4.82	0.62117	.	1.363580	0.04877	N	0.447063	T	0.70465	0.3227	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.997;0.998	T	0.57183	-0.7855	10	0.72032	D	0.01	-28.9881	15.4751	0.75471	0.0:1.0:0.0:0.0	.	56;26;13	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	H	13;13;56;13	ENSP00000294172:D13H;ENSP00000436679:D13H;ENSP00000435742:D56H;ENSP00000408864:D13H	ENSP00000294172:D13H	D	-	1	0	NXF1	62328018	0.973000	0.33851	1.000000	0.80357	0.933000	0.57130	1.247000	0.32815	2.503000	0.84419	0.655000	0.94253	GAT	NXF1	-	NULL		0.453	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571442	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62571442	C	G	62571442	3	3	130	1	0	0	0	0	1	0	0	0	10806	826	29	1	1957	1	NXF1	11	62571442	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1066717	62571442	72435074	101	20050										
FLRT1	28992	genome.wustl.edu	37	chr11	63884108	63884108	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gacctggatgagttccccatCaacctgccccgctccctccg	8	19	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:63884108C>G	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.I123M|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AGTTCCCCATCAACCTGCCCC	0.602																																																	0													55	53	54					11																	63884108		2201	4297	6498	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34602G>C	11.37:g.63884108C>G			Q9UH96	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.I123M	ENST00000255681.6	37	c.369	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	C	1.328	-0.597573	0.03771	.	.	ENSG00000126500	ENST00000246841	T	0.02472	4.28	5.57	4.64	0.57946	.	0.456503	0.21614	N	0.071748	T	0.02727	0.0082	N	0.17082	0.46	0.25132	N	0.990566	B	0.11235	0.004	B	0.12837	0.008	T	0.42498	-0.9448	10	0.32370	T	0.25	-36.5836	15.1389	0.72595	0.0:0.8576:0.1424:0.0	.	95	Q9NZU1	FLRT1_HUMAN	M	123	ENSP00000246841:I123M	ENSP00000246841:I123M	I	+	3	3	FLRT1	63640684	0.903000	0.30736	0.985000	0.45067	0.997000	0.91878	0.462000	0.21956	1.311000	0.45024	0.561000	0.74099	ATC	FLRT1	-	NULL		0.602	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	C	NM_014067		63884108	1	no_errors	ENST00000246841	ensembl	human	known	70_37	missense	SNP	0.979	G	G	63884108	C	G	63884108	1	3	130	0	1	0	0	0	0	0	0	0	5956	816	29	1		1	FLRT1	11	63884108	Intron	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1312666	63884108	71122408	102	20051										
SHANK2	22941	genome.wustl.edu	37	chr11	70332901	70332901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gcggcctcccagcctcacccGgagcactggcctcggcgcca	12	20	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:70332901G>A	ENST00000423696.2	-	15	2396	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P571L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1167L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P570L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	787					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.P1167Q(1)|p.P571Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGCCTCACCCGGAGCACTGGC	0.706																																																	2	Substitution - Missense(2)	lung(2)											27	34	32					11																	70332901		2200	4288	6488	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2360C>T	11.37:g.70332901G>A	ENSP00000394536:p.Pro787Leu		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1167L	ENST00000423696.2	37	c.3500		11	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270271	0.80469	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.05	5.05	0.67936	.	1.660630	0.04121	N	0.316346	T	0.28067	0.0692	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.04013	0.0;0.0;0.001	T	0.01688	-1.1295	10	0.48119	T	0.1	.	12.1276	0.53924	0.0:0.0:0.1438:0.8562	.	787;1166;571	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	571;570;445;1167;787;805;790	ENSP00000399423:P571L;ENSP00000386491:P570L;ENSP00000402944:P445L;ENSP00000345193:P1167L;ENSP00000394536:P787L;ENSP00000294018:P790L	ENSP00000294018:P790L	P	-	2	0	SHANK2	70010549	1.000000	0.71417	0.921000	0.36526	0.968000	0.65278	3.090000	0.50191	0.773000	0.33404	-0.363000	0.07495	CCG	SHANK2	-	NULL		0.706	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		G	NM_012309		70332901	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	missense	SNP	0.997	A	A	70332901	G	A	70332901	3	1	130	1	0	0	0	0	1	0	0	0	14295	1116	39	2	2060	2	SHANK2	11	70332901	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6448793	70332901	64673615	103	20052										
C11orf30	56946	genome.wustl.edu	37	chr11	76255554	76255554	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cacctgcaggcagaccagctCcagcacaaactcccgcaaat	7	17	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:76255554C>G	ENST00000529032.1	+	18	2961	c.2961C>G	c.(2959-2961)ctC>ctG	p.L987L	C11orf30_ENST00000533248.1_Silent_p.L896L|C11orf30_ENST00000334736.3_Silent_p.L987L|C11orf30_ENST00000524490.1_Silent_p.L889L|C11orf30_ENST00000525919.1_Silent_p.L988L|C11orf30_ENST00000524767.1_Silent_p.L1002L|C11orf30_ENST00000525038.1_Silent_p.L988L|C11orf30_ENST00000343878.3_Silent_p.L987L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	987	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGACCAGCTCCAGCACAAAC	0.542																																																	0													106	107	107					11																	76255554		2200	4292	6492	SO:0001819	synonymous_variant	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2961C>G	11.37:g.76255554C>G			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	pfam_ENT_N,pfscan_ENT_N	p.L987	ENST00000529032.1	37	c.2961	CCDS8244.1	11																																																																																			C11orf30	-	NULL		0.542	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	C	NM_020193		76255554	1	no_errors	ENST00000334736	ensembl	human	known	70_37	silent	SNP	1.000	G	G	76255554	C	G	76255554	2	3	130	1	0	0	0	0	0	0	0	1	1640	842	30	1		1	C11orf30	11	76255554	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	5922653	76255554	58750962	104	20053										
NOP2	4839	genome.wustl.edu	37	chr12	6666539	6666539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctttggctccctgatcccttCggcttttccagctggctgac	9	15	0	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:6666539C>T	ENST00000322166.5	-	16	2180	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000382421.3_Missense_Mutation_p.E720K|NOP2_ENST00000545200.1_3'UTR|IFFO1_ENST00000336604.4_5'Flank|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000399466.2_Missense_Mutation_p.E683K|NOP2_ENST00000537442.1_Missense_Mutation_p.E687K|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000541778.1_Missense_Mutation_p.E683K	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	687					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGATCCCTTCGGCTTTTCCA	0.517																																																	0													150	149	149					12																	6666539		2002	4187	6189	SO:0001583	missense	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2059G>A	12.37:g.6666539C>T	ENSP00000313272:p.Glu687Lys		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.E687K	ENST00000322166.5	37	c.2059	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	C	0.555	-0.847770	0.02651	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.14	-5.27	0.02763	.	1.867170	0.02813	N	0.124545	T	0.04907	0.0132	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34775	-0.9815	10	0.06625	T	0.88	0.288	6.2615	0.20903	0.0:0.2085:0.2606:0.5309	.	687;683	P46087;P46087-2	NOP2_HUMAN;.	K	687;720;683;687;683	ENSP00000444437:E687K;ENSP00000371858:E720K;ENSP00000382392:E683K;ENSP00000313272:E687K;ENSP00000443150:E683K	ENSP00000313272:E687K	E	-	1	0	NOP2	6536800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.091000	0.03369	-1.150000	0.02840	-1.619000	0.00793	GAA	NOP2	-	pfam_P120R		0.517	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	C	NM_006170		6666539	-1	no_errors	ENST00000322166	ensembl	human	known	70_37	missense	SNP	0.000	T	T	6666539	C	T	6666539	3	4	130	1	0	0	0	0	1	0	0	0	10562	893	31	1	383	1	NOP2	12	6666539	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09		6666539	127185356	105	20054										
SOX5	6660	genome.wustl.edu	37	chr12	24102511	24102511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tactcacctttcaaactcctGaggtaaatcagggtcagtaa	7	10	4	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:24102511G>A	ENST00000451604.2	-	1	126	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	SOX5_ENST00000541847.1_Intron|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000441133.2_Nonsense_Mutation_p.Q9*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.Q9*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	9					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCAAACTCCTGAGGTAAATCA	0.438																																																	0													113	103	106					12																	24102511		2203	4300	6503	SO:0001587	stop_gained	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.25C>T	12.37:g.24102511G>A	ENSP00000398273:p.Gln9*		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Nonsense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q9*	ENST00000451604.2	37	c.25	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	g	38	6.816612	0.97861	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	.	.	.	5.28	5.28	0.74379	.	0.154071	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	17.0691	0.86568	0.0:0.0:1.0:0.0	.	.	.	.	X	9	.	ENSP00000393240:Q9X	Q	-	1	0	SOX5	23993778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.234000	0.89801	2.631000	0.89168	0.645000	0.84053	CAG	SOX5	-	NULL		0.438	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	G	NM_006940		24102511	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	24102511	G	A	24102511	4	1	130	1	0	0	0	0	0	1	0	0	14984	1299	45	1	2336	1	SOX5	12	24102511	Nonsense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	17435972	24102511	109749384	106	20055										
SENP1	29843	genome.wustl.edu	37	chr12	48457495	48457495	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aaatagatgcaacattacctCatcattgagccaattcagat	5	9	3	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:48457495C>T	ENST00000004980.5	-	13	1883	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	SENP1_ENST00000448372.1_Missense_Mutation_p.E469K|SENP1_ENST00000549595.1_Missense_Mutation_p.E469K|SENP1_ENST00000551330.1_Missense_Mutation_p.E469K|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.E469K			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	469	Protease.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AACATTACCTCATCATTGAGC	0.358																																																	0													162	155	157					12																	48457495		1885	4118	6003	SO:0001583	missense	29843			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1405G>A	12.37:g.48457495C>T	ENSP00000004980:p.Glu469Lys		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E469K	ENST00000004980.5	37	c.1405	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	34	5.319216	0.95682	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.64807	-0.6320	10	0.72032	D	0.01	-12.9249	18.7669	0.91876	0.0:1.0:0.0:0.0	.	469;469	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	469	ENSP00000004980:E469K;ENSP00000394791:E469K;ENSP00000446681:E469K;ENSP00000450076:E469K;ENSP00000447328:E469K	ENSP00000004980:E469K	E	-	1	0	SENP1	46743762	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.995000	0.76257	2.534000	0.85438	0.655000	0.94253	GAG	SENP1	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.358	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	C	NM_014554		48457495	-1	no_errors	ENST00000004980	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48457495	C	T	48457495	3	4	130	1	0	0	0	0	1	0	0	0	14076	835	29	1	550	1	SENP1	12	48457495	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	24354984	48457495	85394400	107	20056										
DIP2B	57609	genome.wustl.edu	37	chr12	51065095	51065095	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aattcagggatcgtccacttCttcatccgcatcttctacgc	6	14	5	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:51065095C>T	ENST00000301180.5	+	5	588	c.554C>T	c.(553-555)tCt>tTt	p.S185F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	185	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCGTCCACTTCTTCATCCGCA	0.522																																																	0													146	124	132					12																	51065095		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.554C>T	12.37:g.51065095C>T	ENSP00000301180:p.Ser185Phe		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S185F	ENST00000301180.5	37	c.554	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956028	0.92726	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.26810	1.71	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.978;0.998	P;D	0.66351	0.836;0.943	T	0.52711	-0.8539	10	0.87932	D	0	-17.5762	19.1286	0.93396	0.0:1.0:0.0:0.0	.	185;195	Q9P265;E9PHD6	DIP2B_HUMAN;.	F	195;185	ENSP00000301180:S185F	ENSP00000301180:S185F	S	+	2	0	DIP2B	49351362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.317000	0.79018	2.758000	0.94735	0.586000	0.80456	TCT	DIP2B	-	NULL		0.522	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	C	NM_173602		51065095	1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51065095	C	T	51065095	3	4	130	1	0	0	0	0	1	0	0	0	4538	913	32	1	572	1	DIP2B	12	51065095	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2607600	51065095	82786800	108	20057										
WIBG	84305	genome.wustl.edu	37	chr12	56295840	56295840	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctttctcagtggtggcagctGagtcaggctggtcagatgca	14	9	3	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:56295840G>C	ENST00000408946.2	-	3	582	c.431C>G	c.(430-432)tCa>tGa	p.S144*	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Nonsense_Mutation_p.S143*|WIBG_ENST00000557259.1_3'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	144					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGTGGCAGCTGAGTCAGGCTG	0.577																																																	0													95	100	99					12																	56295840		1946	4154	6100	SO:0001587	stop_gained	84305			BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.431C>G	12.37:g.56295840G>C	ENSP00000386156:p.Ser144*		B6ZDM5|Q8IXJ8|Q8N8E7	Nonsense_Mutation	SNP	pfam_EJC_Pym,superfamily_EJC_Pym	p.S144*	ENST00000408946.2	37	c.431	CCDS41795.1	12	.	.	.	.	.	.	.	.	.	.	G	4.896	0.166591	0.09339	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	.	.	.	4.83	2.99	0.34606	.	0.464279	0.18482	N	0.139911	.	.	.	.	.	.	0.20563	N	0.999888	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	7.3742	0.26818	0.087:0.0:0.7465:0.1665	.	.	.	.	X	144;143	.	ENSP00000381271:S143X	S	-	2	0	WIBG	54582107	0.294000	0.24380	0.001000	0.08648	0.468000	0.32798	2.292000	0.43549	0.756000	0.33013	0.563000	0.77884	TCA	WIBG	-	NULL		0.577	WIBG-001	KNOWN	basic|CCDS	protein_coding	WIBG	HGNC	protein_coding	OTTHUMT00000408079.1	G	NM_032345		56295840	-1	no_errors	ENST00000408946	ensembl	human	known	70_37	nonsense	SNP	0.002	C	C	56295840	G	C	56295840	4	2	130	1	0	0	0	0	0	1	0	0	17396	1294	45	1	187	1	WIBG	12	56295840	Nonsense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	5230745	56295840	77556055	109	20058										
INHBE	83729	genome.wustl.edu	37	chr12	57850121	57850121	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tctagtggcttgaggggtgaGaagtctggtgtcctgaaact	15	6	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:57850121G>A	ENST00000266646.2	+	2	759	c.543G>A	c.(541-543)gaG>gaA	p.E181E	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	181					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGAGGGGTGAGAAGTCTGGTG	0.587											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0													156	146	149					12																	57850121		2203	4300	6503	SO:0001819	synonymous_variant	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.543G>A	12.37:g.57850121G>A		1026		Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.E181	ENST00000266646.2	37	c.543	CCDS8939.1	12																																																																																			INHBE	-	pfam_TGF-b_N		0.587	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	G	NM_031479		57850121	1	no_errors	ENST00000266646	ensembl	human	known	70_37	silent	SNP	0.000	A	A	57850121	G	A	57850121	2	1	130	1	0	0	0	0	0	0	0	1	7764	933	33	1		1	INHBE	12	57850121	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	1554281	57850121	76001774	110	20059										
PPFIA2	8499	genome.wustl.edu	37	chr12	81746991	81746991	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttggagagagaagatccattGagctaaaaattgtttctctg	10	5	1	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:81746991G>A	ENST00000549396.1	-	17	2061	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S201L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S616L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S634L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S481L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S535L|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S634L|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S634L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S616L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S560L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	634					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAGATCCATTGAGCTAAAAAT	0.408																																																	0													190	180	183					12																	81746991		1924	4148	6072	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1901C>T	12.37:g.81746991G>A	ENSP00000450337:p.Ser634Leu		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S634L	ENST00000549396.1	37	c.1901	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809133	0.90707	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.73598	2.24	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.60429	-0.7265	10	0.46703	T	0.11	-11.9663	19.2605	0.93966	0.0:0.0:1.0:0.0	.	634	O75334	LIPA2_HUMAN	L	634;616;201;560;645;616;634;535;634;215	ENSP00000450337:S634L;ENSP00000450298:S616L;ENSP00000438337:S201L;ENSP00000385093:S560L;ENSP00000327416:S616L;ENSP00000449338:S634L;ENSP00000388373:S535L;ENSP00000447868:S634L;ENSP00000448941:S215L	ENSP00000327416:S616L	S	-	2	0	PPFIA2	80271122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.534000	0.85438	0.585000	0.79938	TCA	PPFIA2	-	NULL		0.408	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	G			81746991	-1	no_errors	ENST00000549396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81746991	G	A	81746991	3	1	130	1	0	0	0	0	1	0	0	0	12334	1294	45	1	1936	1	PPFIA2	12	81746991	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	23896870	81746991	52104904	111	20060										
POC1B	282809	genome.wustl.edu	37	chr12	89890968	89890968	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttatcaggaatccagagtctCacggttctgtctcgtgaggc	11	10	4	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:89890968C>T	ENST00000313546.3	-	3	380	c.252G>A	c.(250-252)gtG>gtA	p.V84V	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Silent_p.V42V	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	84					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCCAGAGTCTCACGGTTCTGT	0.448																																																	0													138	138	138					12																	89890968		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.252G>A	12.37:g.89890968C>T			G3V1X0	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V84	ENST00000313546.3	37	c.252	CCDS31869.1	12																																																																																			POC1B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.448	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	C	NM_172240		89890968	-1	no_errors	ENST00000313546	ensembl	human	known	70_37	silent	SNP	0.993	T	T	89890968	C	T	89890968	2	4	130	1	0	0	0	0	0	0	0	1	12200	813	29	1		1	POC1B	12	89890968	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	8143977	89890968	43960927	112	20061										
PLXNC1	10154	genome.wustl.edu	37	chr12	94543544	94543544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cggctggcccagcatggcgcGcatcgcgcagagcaccgagg	16	15	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:94543544G>T	ENST00000258526.4	+	1	1046	c.797G>T	c.(796-798)cGc>cTc	p.R266L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCATGGCGCGCATCGCGCAG	0.677																																																	0													29	33	32					12																	94543544		2139	4271	6410	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.797G>T	12.37:g.94543544G>T	ENSP00000258526:p.Arg266Leu		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R266L	ENST00000258526.4	37	c.797	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817397	0.50633	.	.	ENSG00000136040	ENST00000258526	T	0.06294	3.32	5.28	4.33	0.51752	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.522030	0.04009	N	0.297932	T	0.11153	0.0272	M	0.63843	1.955	0.80722	D	1	B	0.24426	0.103	B	0.21546	0.035	T	0.39941	-0.9589	10	0.62326	D	0.03	.	8.2816	0.31904	0.0783:0.0:0.7651:0.1566	.	266	O60486	PLXC1_HUMAN	L	266	ENSP00000258526:R266L	ENSP00000258526:R266L	R	+	2	0	PLXNC1	93067675	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.996000	0.57009	2.465000	0.83290	0.561000	0.74099	CGC	PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.677	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94543544	1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	0.999	T	T	94543544	G	T	94543544	3	4	130	1	0	0	0	0	1	0	0	0	12150	1087	38	2	799	2	PLXNC1	12	94543544	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	4652576	94543544	39308351	113	20062										
SLC17A8	246213	genome.wustl.edu	37	chr12	100813787	100813787	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctcaaccatgagagttttgcGagtcccaaaaagaagatgtc	9	9	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:100813787G>T	ENST00000323346.5	+	12	1933	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A	SLC17A8_ENST00000392989.3_Silent_p.A490A|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	540					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAGTTTTGCGAGTCCCAAAA	0.478																																																	0													60	59	60					12																	100813787		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1620G>T	12.37:g.100813787G>T			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A540	ENST00000323346.5	37	c.1620	CCDS9077.1	12																																																																																			SLC17A8	-	NULL		0.478	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	G	NM_139319		100813787	1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	0.000	T	T	100813787	G	T	100813787	2	4	130	1	0	0	0	0	0	0	0	1	14453	1045	37	3		3	SLC17A8	12	100813787	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6270243	100813787	33038108	114	20063										
UTP20	27340	genome.wustl.edu	37	chr12	101760358	101760358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	atccagtagccccagcaccaGatccacgtctaccaccccag	6	19	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:101760358G>A	ENST00000261637.4	+	47	6322	c.6148G>A	c.(6148-6150)Gat>Aat	p.D2050N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2050					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCCAGCACCAGATCCACGTCT	0.502																																																	0													179	155	163					12																	101760358		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6148G>A	12.37:g.101760358G>A	ENSP00000261637:p.Asp2050Asn		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.D2050N	ENST00000261637.4	37	c.6148	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648399	0.87958	.	.	ENSG00000120800	ENST00000261637	T	0.19669	2.13	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.77820	2.39	0.58432	D	0.999999	P	0.50617	0.937	P	0.49829	0.623	T	0.16394	-1.0404	10	0.18276	T	0.48	-21.639	19.1159	0.93338	0.0:0.0:1.0:0.0	.	2050	O75691	UTP20_HUMAN	N	2050	ENSP00000261637:D2050N	ENSP00000261637:D2050N	D	+	1	0	UTP20	100284489	1.000000	0.71417	0.627000	0.29227	0.807000	0.45602	6.040000	0.70980	2.508000	0.84585	0.563000	0.77884	GAT	UTP20	-	superfamily_ARM-type_fold		0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101760358	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.999	A	A	101760358	G	A	101760358	3	1	130	1	0	0	0	0	1	0	0	0	17130	942	33	1	6334	1	UTP20	12	101760358	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	946571	101760358	32091537	115	20064										
MYBPC1	4604	genome.wustl.edu	37	chr12	102025848	102025848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggccaaagataactttgcagGaaattacagatgcgaggtca	11	7	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:102025848G>A	ENST00000550270.1	+	6	413	c.413G>A	c.(412-414)gGa>gAa	p.G138E	MYBPC1_ENST00000553190.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G125E|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G124E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G112E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G126E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G39E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.G151E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	138	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACTTTGCAGGAAATTACAGA	0.383																																																	0													124	119	121					12																	102025848		2203	4300	6503	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.413G>A	12.37:g.102025848G>A	ENSP00000449702:p.Gly138Glu		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G163E	ENST00000550270.1	37	c.488	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655765	0.88056	.	.	ENSG00000196091	ENST00000550514;ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000142	D	0.89615	0.6766	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D	0.90351	0.4366	10	0.87932	D	0	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	138;126;138;138;125;112;138;138;163;163;151	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	E	39;112;138;138;138;125;124;163;151;138;163;138;138;126;163;39;138	ENSP00000447404:G39E;ENSP00000448175:G112E;ENSP00000400908:G138E;ENSP00000388989:G138E;ENSP00000353822:G138E;ENSP00000376665:G125E;ENSP00000447362:G124E;ENSP00000354845:G163E;ENSP00000447660:G151E;ENSP00000447900:G138E;ENSP00000440034:G138E;ENSP00000446128:G138E;ENSP00000442847:G126E;ENSP00000354849:G163E;ENSP00000447116:G39E;ENSP00000449702:G138E	ENSP00000353822:G138E	G	+	2	0	MYBPC1	100549979	1.000000	0.71417	0.997000	0.53966	0.537000	0.34900	9.869000	0.99810	2.698000	0.92095	0.563000	0.77884	GGA	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	G			102025848	1	no_errors	ENST00000361466	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102025848	G	A	102025848	3	1	130	1	0	0	0	0	1	0	0	0	10034	1174	41	1	518	1	MYBPC1	12	102025848	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	265490	102025848	31826047	116	20065										
COX6A1	1337	genome.wustl.edu	37	chr12	120875972	120875972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cggtttctcggctgctgggtCggtcccgcccacagctgggg	16	14	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:120875972C>T	ENST00000229379.2	+	1	80	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	AL021546.6_ENST00000551806.1_5'Flank	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	15					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGCTGGGTCGGTCCCGCCC	0.667																																																	0													22	23	23					12																	120875972		2202	4300	6502	SO:0001583	missense	1337			X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.43C>T	12.37:g.120875972C>T	ENSP00000229379:p.Arg15Trp		B2R500|O43714|Q32Q37	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a	p.R15W	ENST00000229379.2	37	c.43	CCDS9197.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693697	0.68386	.	.	ENSG00000111775	ENST00000229379	.	.	.	4.75	3.87	0.44632	.	0.450029	0.24611	N	0.037057	T	0.39784	0.1091	L	0.33245	0.995	0.09310	N	1	D	0.65815	0.995	P	0.58077	0.832	T	0.11591	-1.0581	9	0.48119	T	0.1	-4.4212	9.0912	0.36612	0.0:0.9004:0.0:0.0996	.	15	P12074	CX6A1_HUMAN	W	15	.	ENSP00000229379:R15W	R	+	1	2	COX6A1	119360355	0.469000	0.25846	0.009000	0.14445	0.005000	0.04900	0.833000	0.27504	1.365000	0.46057	0.655000	0.94253	CGG	COX6A1	-	pirsf_Cyt_c_oxidase_su6a		0.667	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6A1	HGNC	protein_coding	OTTHUMT00000108984.3	C	NM_004373		120875972	1	no_errors	ENST00000229379	ensembl	human	known	70_37	missense	SNP	0.045	T	T	120875972	C	T	120875972	3	4	130	1	0	0	0	0	1	0	0	0	3779	875	31	1	45	1	COX6A1	12	120875972	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	18850124	120875972	12975923	117	20066										
DIS3	22894	genome.wustl.edu	37	chr13	73345042	73345042	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttaatagccatgaaacgaacCtttgaattaataacactttt	4	7	0	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr13:73345042C>T	ENST00000377767.4	-	13	1855	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K	DIS3_ENST00000377780.4_Splice_Site_p.K555K|DIS3_ENST00000545453.1_Splice_Site_p.K423K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	585					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGAAACGAACCTTTGAATTAA	0.269										Multiple Myeloma(4;0.011)																																							0													51	51	51					13																	73345042		2201	4298	6499	SO:0001630	splice_region_variant	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1755+1G>A	13.37:g.73345042C>T			A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.K585	ENST00000377767.4	37	c.1755	CCDS9447.1	13																																																																																			DIS3	-	pfam_RNase_II/R,smart_RNase_II/R		0.269	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	C	NM_014953	Silent	73345042	-1	no_errors	ENST00000377767	ensembl	human	known	70_37	silent	SNP	1.000	T	T	73345042	C	T	73345042	5	4	130	1	0	0	0	0	0	0	1	0	4545	695	24	4	1157	4	DIS3	13	73345042	Splice_Site	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09		73345042	41824836	118	20067										
ZIC2	7546	genome.wustl.edu	37	chr13	100637226	100637226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agccgttccagtgtgagtttGagggctgcgaccggcgcttc	15	11	0	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr13:100637226G>C	ENST00000376335.3	+	2	1395	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	368					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGTGAGTTTGAGGGCTGCGA	0.622																																					Pancreas(97;119 1522 31925 44771 48764)												0													110	91	97					13																	100637226		2203	4300	6503	SO:0001583	missense	7546			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1102G>C	13.37:g.100637226G>C	ENSP00000365514:p.Glu368Gln		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E368Q	ENST00000376335.3	37	c.1102	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695600	0.88830	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.15017	2.46	4.49	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	L	0.55990	1.75	0.58432	D	0.999996	D	0.58620	0.983	D	0.66351	0.943	T	0.05354	-1.0890	10	0.72032	D	0.01	.	11.6611	0.51347	0.0889:0.0:0.9111:0.0	.	368	O95409	ZIC2_HUMAN	Q	368;117	ENSP00000365514:E368Q	ENSP00000365514:E368Q	E	+	1	0	ZIC2	99435227	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.548000	0.82154	1.215000	0.43411	0.655000	0.94253	GAG	ZIC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.622	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	G	NM_007129		100637226	1	no_errors	ENST00000376335	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100637226	G	C	100637226	3	2	130	1	0	0	0	0	1	0	0	0	17709	1291	45	1	1108	1	ZIC2	13	100637226	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	27292184	100637226	14532652	119	20068										
OR4K1	79544	genome.wustl.edu	37	chr14	20404322	20404322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cttggcttttacagtggaccTgccattctgtggtcccaatg	10	11	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:20404322T>C	ENST00000285600.4	+	1	556	c.497T>C	c.(496-498)cTg>cCg	p.L166P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGACCTGCCATTCTGT	0.458																																																	0													136	139	138					14																	20404322		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.497T>C	14.37:g.20404322T>C	ENSP00000285600:p.Leu166Pro		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L166P	ENST00000285600.4	37	c.497	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	16.93	3.259204	0.59321	.	.	ENSG00000155249	ENST00000285600	T	0.00301	8.21	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000448	T	0.01156	0.0038	H	0.99464	4.58	0.29183	N	0.876345	P	0.49961	0.93	P	0.56434	0.798	T	0.02805	-1.1108	10	0.87932	D	0	.	12.3562	0.55176	0.0:0.0:0.0:1.0	.	166	Q8NGD4	OR4K1_HUMAN	P	166	ENSP00000285600:L166P	ENSP00000285600:L166P	L	+	2	0	OR4K1	19474162	0.915000	0.31059	0.979000	0.43373	0.963000	0.63663	6.991000	0.76232	2.011000	0.59026	0.460000	0.39030	CTG	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	T			20404322	1	no_errors	ENST00000285600	ensembl	human	known	70_37	missense	SNP	0.192	C	C	20404322	T	C	20404322	3	2	130	1	0	0	0	0	1	0	0	0	11091	1580	55	5	499	5	OR4K1	14	20404322	Missense_Mutation	SNP	T	TCGA-FU-A3HY-01A-11D-A21Q-09		20404322	86945218	120	20069										
TTC5	91875	genome.wustl.edu	37	chr14	20767589	20767591	+	In_Frame_Del	DEL	AGG	AGG	-													0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	caccattgacaggttttgcaAggagactttgttcctgcact							TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:20767589_20767591delAGG	ENST00000258821.3	-	4	469_471	c.413_415delCCT	c.(412-417)tccttg>ttg	p.S138del		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	138					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGGTTTTGCAAGGAGACTTTGTT	0.463																																																	0																																										SO:0001651	inframe_deletion	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.413_415delCCT	14.37:g.20767589_20767591delAGG	ENSP00000258821:p.Ser138del		A8MQ18|Q96HF9	In_Frame_Del	DEL	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S138in_frame_del	ENST00000258821.3	37	c.415_413	CCDS9546.1	14																																																																																			TTC5	-	NULL		0.463	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	AGG	NM_138376		20767591	-1	no_errors	ENST00000258821	ensembl	human	known	70_37	in_frame_del	DEL	0.997:0.983:1.000	-	-	20767591	AGG	-	20767589	7	5	130	1	0	1	0	1	0	0	0	0	16742	69	3	0	935	0	TTC5	14	20767589	In_Frame_Del	DEL	AGG	TCGA-FU-A3HY-01A-11D-A21Q-09	363267	20767589	86581951	121	20070										
TEP1	7011	genome.wustl.edu	37	chr14	20849739	20849739	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gaggatgtgtgccgtgtcctCtagccctggcctcttcccat	11	14	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:20849739C>G	ENST00000262715.5	-	31	4571	c.4531G>C	c.(4531-4533)Gag>Cag	p.E1511Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E1403Q|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1511					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCGTGTCCTCTAGCCCTGGC	0.647																																																	0													158	138	145					14																	20849739		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4531G>C	14.37:g.20849739C>G	ENSP00000262715:p.Glu1511Gln		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1511Q	ENST00000262715.5	37	c.4531	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768457	0.15983	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.50277	0.79;0.75	5.42	2.12	0.27331	.	0.401240	0.27881	N	0.017464	T	0.33030	0.0849	L	0.36672	1.1	0.22982	N	0.998473	B;B;B	0.20052	0.037;0.041;0.022	B;B;B	0.17433	0.018;0.016;0.008	T	0.16988	-1.0384	10	0.34782	T	0.22	-13.0223	7.4771	0.27382	0.0:0.6778:0.1439:0.1783	.	1403;854;1511	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1511;1511;1403	ENSP00000262715:E1511Q;ENSP00000452574:E1403Q	ENSP00000262715:E1511Q	E	-	1	0	TEP1	19919579	0.050000	0.20438	0.053000	0.19242	0.602000	0.36980	-0.059000	0.11731	0.658000	0.30925	0.563000	0.77884	GAG	TEP1	-	NULL		0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20849739	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.420	G	G	20849739	C	G	20849739	3	3	130	1	0	0	0	0	1	0	0	0	15789	922	32	1	3452	1	TEP1	14	20849739	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	82150	20849739	86499801	122	20071										
SOCS4	122809	genome.wustl.edu	37	chr14	55509864	55509864	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggttatgtgtggagtggaaaGaagttatcttggtcaaaaaa	13	2	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55509864G>A	ENST00000395472.2	+	2	437	c.105G>A	c.(103-105)aaG>aaA	p.K35K	SOCS4_ENST00000555846.1_Silent_p.K35K|SOCS4_ENST00000339298.2_Silent_p.K35K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	35					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.K35N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GGAGTGGAAAGAAGTTATCTT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											147	146	146					14																	55509864		2203	4300	6503	SO:0001819	synonymous_variant	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.105G>A	14.37:g.55509864G>A				Silent	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.K35	ENST00000395472.2	37	c.105	CCDS9722.1	14																																																																																			SOCS4	-	NULL		0.383	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509864	1	no_errors	ENST00000339298	ensembl	human	known	70_37	silent	SNP	1.000	A	A	55509864	G	A	55509864	2	1	130	1	0	0	0	0	0	0	0	1	14946	933	33	1		1	SOCS4	14	55509864	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	34660125	55509864	51839676	123	20072			1	96		4	4	1205	G		6.671731e-08
SOCS4	122809	genome.wustl.edu	37	chr14	55509907	55509907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtgagagttattcagatgctGagacagtgaatggtatagag	14	3	1	5			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55509907G>A	ENST00000395472.2	+	2	480	c.148G>A	c.(148-150)Gag>Aag	p.E50K	SOCS4_ENST00000555846.1_Missense_Mutation_p.E50K|SOCS4_ENST00000339298.2_Missense_Mutation_p.E50K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	50					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTCAGATGCTGAGACAGTGAA	0.423																																																	0													158	151	153					14																	55509907		2203	4300	6503	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.148G>A	14.37:g.55509907G>A	ENSP00000378855:p.Glu50Lys			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E50K	ENST00000395472.2	37	c.148	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248494	0.39797	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33865	1.39;1.39;1.39	5.75	5.75	0.90469	.	0.268898	0.30911	N	0.008640	T	0.25306	0.0615	N	0.19112	0.55	0.51233	D	0.999913	P	0.36282	0.546	B	0.26770	0.073	T	0.03576	-1.1023	10	0.38643	T	0.18	-8.5401	19.9522	0.97203	0.0:0.0:1.0:0.0	.	50	Q8WXH5	SOCS4_HUMAN	K	50	ENSP00000378855:E50K;ENSP00000452522:E50K;ENSP00000341327:E50K	ENSP00000341327:E50K	E	+	1	0	SOCS4	54579660	1.000000	0.71417	0.974000	0.42286	0.284000	0.27059	6.463000	0.73530	2.725000	0.93324	0.655000	0.94253	GAG	SOCS4	-	NULL		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509907	1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55509907	G	A	55509907	3	1	130	1	0	0	0	0	1	0	0	0	14946	1291	45	1	150	1	SOCS4	14	55509907	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	43	55509907	51839633	124	20073			1	96		4	4	1205	G		6.671731e-08
SOCS4	122809	genome.wustl.edu	37	chr14	55509925	55509925	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgagacagtgaatggtataGagaaaaccgaagtgtcttta	11	5	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55509925G>T	ENST00000395472.2	+	2	498	c.166G>T	c.(166-168)Gag>Tag	p.E56*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.E56*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.E56*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	56					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GAATGGTATAGAGAAAACCGA	0.423																																																	0													155	146	149					14																	55509925		2203	4300	6503	SO:0001587	stop_gained	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.166G>T	14.37:g.55509925G>T	ENSP00000378855:p.Glu56*			Nonsense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E56*	ENST00000395472.2	37	c.166	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502032	0.26949	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.22	4.33	0.51752	.	0.283735	0.29314	N	0.012519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-4.7738	13.6947	0.62569	0.0733:0.0:0.9267:0.0	.	.	.	.	X	56	.	ENSP00000341327:E56X	E	+	1	0	SOCS4	54579678	0.955000	0.32602	0.022000	0.16811	0.007000	0.05969	4.226000	0.58606	1.446000	0.47643	0.655000	0.94253	GAG	SOCS4	-	NULL		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509925	1	no_errors	ENST00000339298	ensembl	human	known	70_37	nonsense	SNP	0.033	T	T	55509925	G	T	55509925	4	4	130	1	0	0	0	0	0	1	0	0	14946	943	33	3	168	3	SOCS4	14	55509925	Nonsense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	18	55509925	51839615	125	20074			1	96		4	4	1205	G		6.671731e-08
SOCS4	122809	genome.wustl.edu	37	chr14	55511068	55511068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tactcaggattgatgcaccaGaacagcaatgctagtaacag	9	9	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55511068G>A	ENST00000395472.2	+	2	1641	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SOCS4_ENST00000555846.1_Missense_Mutation_p.E437K|SOCS4_ENST00000339298.2_Missense_Mutation_p.E437K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	437					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGATGCACCAGAACAGCAATG	0.308																																																	0													27	27	27					14																	55511068		2183	4289	6472	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1309G>A	14.37:g.55511068G>A	ENSP00000378855:p.Glu437Lys			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E437K	ENST00000395472.2	37	c.1309	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	9.680	1.148969	0.21288	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.32023	1.47;1.47;1.47	4.96	0.927	0.19437	.	0.089238	0.46145	D	0.000318	T	0.17831	0.0428	N	0.22421	0.69	0.37310	D	0.909076	B	0.02656	0.0	B	0.04013	0.001	T	0.06899	-1.0801	10	0.46703	T	0.11	-11.6529	7.8804	0.29618	0.1382:0.2482:0.6136:0.0	.	437	Q8WXH5	SOCS4_HUMAN	K	437	ENSP00000378855:E437K;ENSP00000452522:E437K;ENSP00000341327:E437K	ENSP00000341327:E437K	E	+	1	0	SOCS4	54580821	1.000000	0.71417	0.986000	0.45419	0.679000	0.39708	2.199000	0.42715	0.063000	0.16370	-0.175000	0.13238	GAA	SOCS4	-	NULL		0.308	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55511068	1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55511068	G	A	55511068	3	1	130	1	0	0	0	0	1	0	0	0	14946	943	33	1	1311	1	SOCS4	14	55511068	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	1143	55511068	51838472	126	20075			1	96		4	4	1205	G		6.671731e-08
C14orf115	55237	genome.wustl.edu	37	chr14	74824599	74824599	+	Missense_Mutation	SNP	G	G	A													0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cccagggaggtgctgggcatGgaggagctagagaagctgcc							TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:74824599G>A	ENST00000256362.4	+	2	1354	c.1113G>A	c.(1111-1113)atG>atA	p.M371I		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	371					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCTGGGCATGGAGGAGCTAG	0.647																																																	0													38	38	38					14																	74824599		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1113G>A	14.37:g.74824599G>A	ENSP00000256362:p.Met371Ile		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.M371I	ENST00000256362.4	37	c.1113	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.131224	0.01756	.	.	ENSG00000133980	ENST00000256362	T	0.41400	1.0	4.57	3.67	0.42095	.	0.731972	0.12346	U	0.477067	T	0.19327	0.0464	N	0.08118	0	0.20307	N	0.999917	B	0.12013	0.005	B	0.09377	0.004	T	0.22068	-1.0227	10	0.06625	T	0.88	-13.1917	8.4347	0.32780	0.18:0.0:0.82:0.0	.	371	Q9H8Y1	VRTN_HUMAN	I	371	ENSP00000256362:M371I	ENSP00000256362:M371I	M	+	3	0	VRTN	73894352	1.000000	0.71417	0.041000	0.18516	0.035000	0.12851	1.328000	0.33758	1.134000	0.42165	0.561000	0.74099	ATG	VRTN	-	NULL		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824599	1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	0.666	A	A	74824599	G	A	74824599	3	1	130	1	0	0	0	0	1	0	0	0	1744	1348	47	4	1115	4	C14orf115	14	74824599	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	19313531	74824599	32524941	127	20076	119	2								
C14orf115	55237	genome.wustl.edu	37	chr14	74824609	74824609	+	Missense_Mutation	SNP	G	G	C													0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgctgggcatggaggagctaGagaagctgccggaggagcag					rs371810735		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:74824609G>C	ENST00000256362.4	+	2	1364	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	375					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGAGGAGCTAGAGAAGCTGCC	0.632																																																	0													43	42	42					14																	74824609		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1123G>C	14.37:g.74824609G>C	ENSP00000256362:p.Glu375Gln		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.E375Q	ENST00000256362.4	37	c.1123	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714629	0.15306	.	.	ENSG00000133980	ENST00000256362	T	0.47177	0.85	3.76	3.76	0.43208	.	0.358301	0.26855	N	0.022159	T	0.29256	0.0728	N	0.24115	0.695	0.35563	D	0.804836	B	0.32781	0.384	B	0.25884	0.064	T	0.41502	-0.9505	10	0.40728	T	0.16	-0.5014	9.9348	0.41545	0.0:0.2898:0.7102:0.0	.	375	Q9H8Y1	VRTN_HUMAN	Q	375	ENSP00000256362:E375Q	ENSP00000256362:E375Q	E	+	1	0	VRTN	73894362	1.000000	0.71417	0.915000	0.36163	0.202000	0.24057	2.809000	0.47971	1.936000	0.56123	0.561000	0.74099	GAG	VRTN	-	NULL		0.632	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824609	1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74824609	G	C	74824609	3	2	130	1	0	0	0	0	1	0	0	0	1744	943	33	1	1125	1	C14orf115	14	74824609	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	10	74824609	32524931	128	20077	119	2								
C14orf115	55237	genome.wustl.edu	37	chr14	74824914	74824914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggggctgtaattccttggaaGagtgaggcggaagagggggc	20	5	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:74824914G>A	ENST00000256362.4	+	2	1669	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	476					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TTCCTTGGAAGAGTGAGGCGG	0.657																																																	0													35	40	39					14																	74824914		2203	4295	6498	SO:0001819	synonymous_variant	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1428G>A	14.37:g.74824914G>A			Q9NVC7	Silent	SNP	pfam_Transposase_8	p.K476	ENST00000256362.4	37	c.1428	CCDS9830.1	14																																																																																			VRTN	-	NULL		0.657	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824914	1	no_errors	ENST00000256362	ensembl	human	known	70_37	silent	SNP	0.822	A	A	74824914	G	A	74824914	2	1	130	1	0	0	0	0	0	0	0	1	1744	933	33	1		1	C14orf115	14	74824914	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	305	74824914	32524626	129	20078										
MLH3	27030	genome.wustl.edu	37	chr14	75515090	75515090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gcttctgaatccctagaactCtgtgtgtttacgttttctgc	8	10	3	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:75515090C>T	ENST00000556740.1	-	1	1304	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	MLH3_ENST00000556257.1_Silent_p.Q423Q|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Silent_p.Q423Q|MLH3_ENST00000238662.7_Silent_p.Q423Q|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	423					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCCTAGAACTCTGTGTGTTTA	0.353								Mismatch excision repair (MMR)																																									0													67	62	64					14																	75515090		2203	4300	6503	SO:0001819	synonymous_variant	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1269G>A	14.37:g.75515090C>T			P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.Q423	ENST00000556740.1	37	c.1269	CCDS32123.1	14																																																																																			MLH3	-	NULL		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	C	NM_014381		75515090	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	silent	SNP	0.974	T	T	75515090	C	T	75515090	2	4	130	1	0	0	0	0	0	0	0	1	9641	912	32	1		1	MLH3	14	75515090	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	690176	75515090	31834450	130	20079										
EML5	161436	genome.wustl.edu	37	chr14	89181361	89181361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtctgaagaccagtccagatGagtgatgaaactaagggatc	12	7	1	6			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:89181361G>A	ENST00000380664.5	-	9	1365	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	EML5_ENST00000554922.1_Missense_Mutation_p.H456Y|EML5_ENST00000352093.5_Missense_Mutation_p.H456Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	456						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGTCCAGATGAGTGATGAAA	0.388																																																	0													92	89	90					14																	89181361		1866	4106	5972	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1366C>T	14.37:g.89181361G>A	ENSP00000370039:p.His456Tyr		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H456Y	ENST00000380664.5	37	c.1366	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437129	0.83885	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.17213	2.29;2.29;5.04	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	H	0.94222	3.51	0.58432	D	0.999994	D	0.71674	0.998	D	0.81914	0.995	T	0.69866	-0.5029	10	0.72032	D	0.01	-10.6612	17.705	0.88306	0.0:0.0:1.0:0.0	.	456	Q05BV3	EMAL5_HUMAN	Y	456	ENSP00000451998:H456Y;ENSP00000298315:H456Y;ENSP00000370039:H456Y	ENSP00000298315:H456Y	H	-	1	0	EML5	88251114	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	9.263000	0.95617	2.416000	0.81992	0.467000	0.42956	CAT	EML5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	G			89181361	-1	no_errors	ENST00000554922	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89181361	G	A	89181361	3	1	130	1	0	0	0	0	1	0	0	0	5112	1290	45	1	4707	1	EML5	14	89181361	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	13666271	89181361	18168179	131	20080										
SERPINA10	51156	genome.wustl.edu	37	chr14	94754777	94754777	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	atgacaacgaaaattcttgtCaaaggtggaggcaaacttgc	10	7	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:94754777C>G	ENST00000393096.1	-	3	1303	c.838G>C	c.(838-840)Gac>Cac	p.D280H	SERPINA10_ENST00000554173.1_Missense_Mutation_p.D280H|SERPINA10_ENST00000261994.4_Missense_Mutation_p.D280H|SERPINA10_ENST00000554723.1_Missense_Mutation_p.D320H	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	280					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAATTCTTGTCAAAGGTGGAG	0.507																																																	0													133	111	119					14																	94754777		2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.838G>C	14.37:g.94754777C>G	ENSP00000376809:p.Asp280His		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D280H	ENST00000393096.1	37	c.838	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621593	0.46736	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.37	4.47	0.54385	Serpin domain (3);	0.081921	0.49305	D	0.000150	D	0.94873	0.8343	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95203	0.8318	10	0.56958	D	0.05	.	15.2717	0.73708	0.1416:0.8584:0.0:0.0	.	280	Q9UK55	ZPI_HUMAN	H	320;280;280;280	ENSP00000450896:D320H;ENSP00000376809:D280H;ENSP00000261994:D280H;ENSP00000450971:D280H	ENSP00000261994:D280H	D	-	1	0	SERPINA10	93824530	1.000000	0.71417	0.587000	0.28692	0.330000	0.28571	3.289000	0.51747	1.217000	0.43442	0.313000	0.20887	GAC	SERPINA10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.507	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	C	NM_016186		94754777	-1	no_errors	ENST00000261994	ensembl	human	known	70_37	missense	SNP	0.983	G	G	94754777	C	G	94754777	3	3	130	1	0	0	0	0	1	0	0	0	14117	826	29	1	508	1	SERPINA10	14	94754777	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	5573416	94754777	12594763	132	20081										
DICER1	23405	genome.wustl.edu	37	chr14	95570075	95570075	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctcgtaactgtataaattctGaatggaatatgaggtagttg	10	4	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:95570075G>A	ENST00000526495.1	-	23	3949	c.3658C>T	c.(3658-3660)Cag>Tag	p.Q1220*	DICER1_ENST00000527414.1_Nonsense_Mutation_p.Q1220*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.Q1220*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.Q1220*|DICER1_ENST00000556045.1_Nonsense_Mutation_p.Q118*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.Q1220*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1220					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATAAATTCTGAATGGAATAT	0.403			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													140	139	139					14																	95570075		2203	4300	6503	SO:0001587	stop_gained	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3658C>T	14.37:g.95570075G>A	ENSP00000437256:p.Gln1220*		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.Q1220*	ENST00000526495.1	37	c.3658	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	44	10.673513	0.99447	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	.	.	.	5.42	5.42	0.78866	.	0.384140	0.29515	N	0.011940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-9.7665	19.2116	0.93757	0.0:0.0:1.0:0.0	.	.	.	.	X	1220;1220;1220;1220;118;1220	.	ENSP00000343745:Q1220X	Q	-	1	0	DICER1	94639828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.925000	0.92832	2.542000	0.85734	0.561000	0.74099	CAG	DICER1	-	NULL		0.403	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	G			95570075	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	95570075	G	A	95570075	4	1	130	1	0	0	0	0	0	1	0	0	4531	1299	45	1	2138	1	DICER1	14	95570075	Nonsense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	815298	95570075	11779465	133	20082										
RCOR1	23186	genome.wustl.edu	37	chr14	103180763	103180763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgtgtatatcatgcaggttCcccctactgagacagttcct	8	12	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:103180763C>T	ENST00000570597.1	+	8	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S	RCOR1_ENST00000262241.6_Missense_Mutation_p.P288S			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	285					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CATGCAGGTTCCCCCTACTGA	0.338																																																	0													48	45	46					14																	103180763		2203	4300	6503	SO:0001583	missense	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.853C>T	14.37:g.103180763C>T	ENSP00000459789:p.Pro285Ser		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom	p.P288S	ENST00000570597.1	37	c.862		14	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517954	0.27211	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.93	5.93	0.95920	.	0.230512	0.45867	D	0.000339	T	0.43853	0.1266	L	0.28115	0.83	0.54753	D	0.99998	P	0.47106	0.89	B	0.43413	0.419	T	0.24548	-1.0157	9	0.08179	T	0.78	-8.3186	20.3312	0.98718	0.0:1.0:0.0:0.0	.	285	Q9UKL0	RCOR1_HUMAN	S	285	.	ENSP00000262241:P285S	P	+	1	0	RCOR1	102250516	0.941000	0.31946	0.981000	0.43875	0.169000	0.22640	2.548000	0.45794	2.797000	0.96272	0.655000	0.94253	CCC	RCOR1	-	NULL		0.338	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding		C	NM_015156		103180763	1	no_errors	ENST00000262241	ensembl	human	known	70_37	missense	SNP	0.997	T	T	103180763	C	T	103180763	3	4	130	1	0	0	0	0	1	0	0	0	13212	855	30	1	883	1	RCOR1	14	103180763	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	7610688	103180763	4168777	134	20083										
MAPKBP1	23005	genome.wustl.edu	37	chr15	42067565	42067565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	caggagtaaggcaggaaaccGacgagaggacctcagctcca	13	11	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:42067565G>A	ENST00000456763.2	+	2	288	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R31Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R31Q|RP11-107F6.3_ENST00000562063.1_lincRNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R31Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	31										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGGAAACCGACGAGAGGAC	0.517																																																	0													100	87	92					15																	42067565		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.92G>A	15.37:g.42067565G>A	ENSP00000393099:p.Arg31Gln		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R31Q	ENST00000456763.2	37	c.92	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660687	0.47572	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	T;T;T;T;T	0.57595	1.17;1.39;1.22;1.32;0.39	6.13	6.13	0.99165	.	0.470006	0.20434	N	0.092419	T	0.37320	0.0999	N	0.22421	0.69	0.80722	D	1	P;P;P	0.52842	0.661;0.956;0.935	B;B;B	0.40982	0.078;0.16;0.345	T	0.10314	-1.0635	10	0.27785	T	0.31	-17.4123	11.6394	0.51224	0.0799:0.0:0.9201:0.0	.	31;31;31	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	Q	31	ENSP00000397570:R31Q;ENSP00000221214:R31Q;ENSP00000393099:R31Q;ENSP00000426154:R31Q;ENSP00000422132:R31Q	ENSP00000221214:R31Q	R	+	2	0	MAPKBP1	39854857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.481000	0.53179	2.932000	0.99384	0.644000	0.83932	CGA	MAPKBP1	-	NULL		0.517	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	G	NM_014994		42067565	1	no_errors	ENST00000456763	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42067565	G	A	42067565	3	1	130	1	0	0	0	0	1	0	0	0	9315	1058	37	1	94	1	MAPKBP1	15	42067565	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		42067565	60463827	135	20084										
ELL3	80237	genome.wustl.edu	37	chr15	44066430	44066430	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tttaatctctgctcccagctCtatgaacctttggcttgcag	7	12	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:44066430C>T	ENST00000319359.3	-	9	1629	c.988G>A	c.(988-990)Gag>Aag	p.E330K	SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	330					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCTCCCAGCTCTATGAACCTT	0.512																																																	0													109	98	102					15																	44066430		2198	4298	6496	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.988G>A	15.37:g.44066430C>T	ENSP00000320346:p.Glu330Lys		B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.E330K	ENST00000319359.3	37	c.988	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764360	0.49574	.	.	ENSG00000128886	ENST00000319359	T	0.24151	1.87	5.92	4.99	0.66335	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.098546	0.45126	D	0.000397	T	0.25419	0.0618	L	0.49571	1.57	0.35995	D	0.836953	P;P;P	0.40398	0.555;0.555;0.716	B;B;B	0.39068	0.179;0.179;0.289	T	0.26360	-1.0105	10	0.56958	D	0.05	-20.0854	12.2197	0.54428	0.0:0.7042:0.2958:0.0	.	330;330;284	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	K	330	ENSP00000320346:E330K	ENSP00000320346:E330K	E	-	1	0	ELL3	41853722	0.859000	0.29813	0.982000	0.44146	0.965000	0.64279	1.407000	0.34657	2.809000	0.96659	0.557000	0.71058	GAG	ELL3	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.512	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	C	NM_025165		44066430	-1	no_errors	ENST00000319359	ensembl	human	known	70_37	missense	SNP	0.921	T	T	44066430	C	T	44066430	3	4	130	1	0	0	0	0	1	0	0	0	5076	922	32	1	217	1	ELL3	15	44066430	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	1998865	44066430	58464962	136	20085										
DAPK2	23604	genome.wustl.edu	37	chr15	64217033	64217033	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	accgtgatccaggggtgtctGagagcctcttggattgtgag	15	8	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:64217033G>C	ENST00000457488.1	-	9	870	c.840C>G	c.(838-840)ctC>ctG	p.L280L	DAPK2_ENST00000261891.3_Silent_p.L280L|DAPK2_ENST00000558069.1_Silent_p.L280L	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	280	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGGGGTGTCTGAGAGCCTCTT	0.562																																																	0													141	111	121					15																	64217033		2203	4300	6503	SO:0001819	synonymous_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.840C>G	15.37:g.64217033G>C			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L280	ENST00000457488.1	37	c.840	CCDS10188.1	15																																																																																			DAPK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.562	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	G	NM_014326		64217033	-1	no_errors	ENST00000261891	ensembl	human	known	70_37	silent	SNP	0.529	C	C	64217033	G	C	64217033	2	2	130	1	0	0	0	0	0	0	0	1	4241	1277	45	1		1	DAPK2	15	64217033	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	20150603	64217033	38314359	137	20086										
SENP8	123228	genome.wustl.edu	37	chr15	72432489	72432489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgtaacactgaggccttgtgTcagaacttctttaggcaaca	9	9	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:72432489T>C	ENST00000542035.2	+	2	858	c.525T>C	c.(523-525)tgT>tgC	p.C175C	SENP8_ENST00000544171.1_Silent_p.C175C|SENP8_ENST00000544411.1_Silent_p.C175C|SENP8_ENST00000340912.4_Silent_p.C175C|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	175							cysteine-type peptidase activity (GO:0008234)	p.C175*(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						AGGCCTTGTGTCAGAACTTCT	0.468																																																	1	Substitution - Nonsense(1)	ovary(1)											115	110	111					15																	72432489		2199	4297	6496	SO:0001819	synonymous_variant	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.525T>C	15.37:g.72432489T>C			Q96QA4	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.C175	ENST00000542035.2	37	c.525	CCDS10240.1	15																																																																																			SENP8	-	pfam_Peptidase_C48		0.468	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP8	HGNC	protein_coding	OTTHUMT00000420036.1	T	NM_145204		72432489	1	no_errors	ENST00000340912	ensembl	human	known	70_37	silent	SNP	0.985	C	C	72432489	T	C	72432489	2	2	130	1	0	0	0	0	0	0	0	1	14082	1673	58	5		5	SENP8	15	72432489	Silent	SNP	T	TCGA-FU-A3HY-01A-11D-A21Q-09	8215456	72432489	30098903	138	20087										
FBXO22	26263	genome.wustl.edu	37	chr15	76209576	76209576	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	taactttttctctagtgactCcaatgggatcaggtagcaat	8	8	2	1	rs137946219	byFrequency	TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:76209576C>G	ENST00000308275.3	+	5	574	c.469C>G	c.(469-471)Cca>Gca	p.P157A	FBXO22_ENST00000453211.2_Missense_Mutation_p.P157A|FBXO22_ENST00000540507.1_Missense_Mutation_p.P53A	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	157					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCTAGTGACTCCAATGGGATC	0.343																																																	0													70	74	72					15																	76209576		2197	4293	6490	SO:0001583	missense	26263			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.469C>G	15.37:g.76209576C>G	ENSP00000307833:p.Pro157Ala		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.P157A	ENST00000308275.3	37	c.469	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844135	0.71488	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	L	0.32530	0.975	0.58432	D	0.999998	D;D	0.89917	1.0;0.994	D;P	0.87578	0.998;0.888	T	0.63786	-0.6558	9	0.38643	T	0.18	-14.0841	15.1415	0.72615	0.0:1.0:0.0:0.0	.	157;157	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	A	157;157;53	.	ENSP00000307833:P157A	P	+	1	0	FBXO22	73996631	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.741000	0.62095	2.655000	0.90218	0.650000	0.86243	CCA	FBXO22	-	NULL		0.343	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	C	NM_147188		76209576	1	no_errors	ENST00000308275	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76209576	C	G	76209576	3	3	130	1	0	0	0	0	1	0	0	0	5752	855	30	1	487	1	FBXO22	15	76209576	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	3777087	76209576	26321816	139	20088										
EFTUD1	79631	genome.wustl.edu	37	chr15	82443950	82443950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tccatagcagtcagtgagtgGagattctcctttctgtgatg	11	8	3	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:82443950G>A	ENST00000268206.7	-	18	3013	c.2845C>T	c.(2845-2847)Cca>Tca	p.P949S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.P898S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	949					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCAGTGAGTGGAGATTCTCCT	0.483																																																	0													153	153	153					15																	82443950		2041	4195	6236	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2845C>T	15.37:g.82443950G>A	ENSP00000268206:p.Pro949Ser		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.P949S	ENST00000268206.7	37	c.2845	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	0	-2.707806	0.00096	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.22539	1.95;1.95	6.16	-12.3	0.00002	Ribosomal protein S5 domain 2-type fold (1);	2.342010	0.02043	N	0.049404	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26292	-1.0107	10	0.08837	T	0.75	-4.2605	11.5473	0.50700	0.1266:0.4993:0.3125:0.0616	.	898;949	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	949;898	ENSP00000268206:P949S;ENSP00000352418:P898S	ENSP00000268206:P949S	P	-	1	0	EFTUD1	80231005	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.924000	0.01565	-4.666000	0.00037	-2.023000	0.00429	CCA	EFTUD1	-	superfamily_Ribosomal_S5_D2-typ_fold		0.483	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	G	NM_024580		82443950	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	missense	SNP	0.000	A	A	82443950	G	A	82443950	3	1	130	1	0	0	0	0	1	0	0	0	4970	1174	41	1	529	1	EFTUD1	15	82443950	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6234374	82443950	20087442	140	20089										
EME2	197342	genome.wustl.edu	37	chr16	1825361	1825361	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	acacagcagccagagagcccGaaggtggccggtgccgaggt	16	12	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:1825361G>A	ENST00000568449.1	+	5	636	c.615G>A	c.(613-615)ccG>ccA	p.P205P	MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Silent_p.P249P	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	205					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGAGAGCCCGAAGGTGGCCG	0.687								Direct reversal of damage;Homologous recombination																																									0													51	60	57					16																	1825361		2197	4300	6497	SO:0001819	synonymous_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.615G>A	16.37:g.1825361G>A			Q8TEP2|Q96RY3	Silent	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.P249	ENST00000568449.1	37	c.747	CCDS58404.1	16																																																																																			EME2	-	pfam_ERCC4_domain,smart_ERCC4_domain		0.687	EME2-001	NOVEL	basic|CCDS	protein_coding	EME2	HGNC	protein_coding	OTTHUMT00000433185.2	G	NM_001010865		1825361	1	no_errors	ENST00000307394	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1825361	G	A	1825361	2	1	130	1	0	0	0	0	0	0	0	1	5101	1045	37	1		1	EME2	16	1825361	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		1825361	88529392	141	20090										
PPL	5493	genome.wustl.edu	37	chr16	4935649	4935649	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctcatccgcctgggccctgtCaggctcgatgcgcaggacct	12	16	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:4935649C>G	ENST00000345988.2	-	22	3096	c.3007G>C	c.(3007-3009)Gac>Cac	p.D1003H	PPL_ENST00000590782.2_Missense_Mutation_p.D1001H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1003					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGGCCCTGTCAGGCTCGATG	0.687																																																	0													83	86	85					16																	4935649		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3007G>C	16.37:g.4935649C>G	ENSP00000340510:p.Asp1003His		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D1003H	ENST00000345988.2	37	c.3007	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116097	0.56505	.	.	ENSG00000118898	ENST00000345988	T	0.60424	0.19	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81228	-0.1028	10	0.87932	D	0	.	18.0758	0.89426	0.0:1.0:0.0:0.0	.	1003	O60437	PEPL_HUMAN	H	1003	ENSP00000340510:D1003H	ENSP00000340510:D1003H	D	-	1	0	PPL	4875650	1.000000	0.71417	0.062000	0.19696	0.094000	0.18550	6.055000	0.71103	2.273000	0.75805	0.484000	0.47621	GAC	PPL	-	NULL		0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4935649	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.997	G	G	4935649	C	G	4935649	3	3	130	1	0	0	0	0	1	0	0	0	12361	826	29	1	2267	1	PPL	16	4935649	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	3110288	4935649	85419104	142	20091										
A2BP1	54715	genome.wustl.edu	37	chr16	7760730	7760730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tataccgagggggatacaacCgttttgctccatactaaatg	9	9	0	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:7760730C>T	ENST00000550418.1	+	16	2165	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	RBFOX1_ENST00000553186.1_Missense_Mutation_p.R366C|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R393C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R414C|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R398C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R388C	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	393					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGGATACAACCGTTTTGCTCC	0.443																																					Ovarian(157;934 2567 15163 39509)												0													157	140	146					16																	7760730		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1177C>T	16.37:g.7760730C>T	ENSP00000450031:p.Arg393Cys		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R414C	ENST00000550418.1	37	c.1240	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438030	0.62955	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T;T	0.51325	0.75;0.71;0.75;1.13;1.01;0.78	5.95	5.95	0.96441	.	0.104988	0.64402	D	0.000003	T	0.64091	0.2567	L	0.39245	1.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.939;0.997;0.996;0.988;0.983	T	0.63985	-0.6513	10	0.87932	D	0	-6.5935	20.3923	0.98948	0.0:1.0:0.0:0.0	.	387;414;388;366;393	F8WAC5;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.;.;.;RFOX1_HUMAN	C	393;366;393;388;414;387;398	ENSP00000450031:R393C;ENSP00000447753:R366C;ENSP00000447717:R393C;ENSP00000402745:R388C;ENSP00000309117:R414C;ENSP00000344196:R398C	ENSP00000309117:R414C	R	+	1	0	RBFOX1	7700731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.313000	0.59160	2.831000	0.97527	0.609000	0.83330	CGT	RBFOX1	-	NULL		0.443	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	C	NM_145891		7760730	1	no_errors	ENST00000311745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7760730	C	T	7760730	3	4	130	1	0	0	0	0	1	0	0	0	3	652	23	2	1422	2	A2BP1	16	7760730	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2825081	7760730	82594023	143	20092										
ERCC4	2072	genome.wustl.edu	37	chr16	14029051	14029051	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ccgaacatgttcccagctgaGagactatatcactcttggag	9	11	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:14029051G>A	ENST00000311895.7	+	8	1271	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	421	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCCCAGCTGAGAGACTATATC	0.413			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													139	129	132					16																	14029051		2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1262G>A	16.37:g.14029051G>A	ENSP00000310520:p.Arg421Lys		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.R421K	ENST00000311895.7	37	c.1262	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324025	0.24080	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60797	0.16	5.77	3.76	0.43208	.	0.227137	0.52532	N	0.000074	T	0.45796	0.1360	L	0.46885	1.475	0.40548	D	0.981097	B	0.02656	0.0	B	0.04013	0.001	T	0.29792	-1.0000	10	0.12430	T	0.62	-11.0375	10.5031	0.44817	0.1552:0.0:0.8448:0.0	.	421	Q92889	XPF_HUMAN	K	421;410	ENSP00000310520:R421K	ENSP00000310520:R421K	R	+	2	0	ERCC4	13936552	1.000000	0.71417	0.519000	0.27824	0.984000	0.73092	2.553000	0.45837	0.724000	0.32296	0.650000	0.86243	AGA	ERCC4	-	tigrfam_Rad1		0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236		14029051	1	no_errors	ENST00000311895	ensembl	human	known	70_37	missense	SNP	0.998	A	A	14029051	G	A	14029051	3	1	130	1	0	0	0	0	1	0	0	0	5227	942	33	1	1292	1	ERCC4	16	14029051	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	6268321	14029051	76325702	144	20093										
ABCC1	4363	genome.wustl.edu	37	chr16	16130348	16130348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggttgattgtccggggctacCgccagcccctggagggcagt	16	12	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:16130348C>T	ENST00000399410.3	+	7	872	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	ABCC1_ENST00000399408.2_Missense_Mutation_p.R233C|ABCC1_ENST00000346370.5_Missense_Mutation_p.R233C|ABCC1_ENST00000345148.5_Missense_Mutation_p.R233C|ABCC1_ENST00000351154.5_Missense_Mutation_p.R233C|ABCC1_ENST00000349029.5_Missense_Mutation_p.R233C	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	233					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCGGGGCTACCGCCAGCCCCT	0.577																																																	0													50	51	51					16																	16130348		1906	4127	6033	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.697C>T	16.37:g.16130348C>T	ENSP00000382342:p.Arg233Cys		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.R233C	ENST00000399410.3	37	c.697	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349477	0.61183	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	4.67	3.58	0.41010	.	0.578759	0.16180	N	0.225895	D	0.96911	0.8991	M	0.92077	3.27	0.35594	D	0.807293	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.998;0.99;0.994	P;P;D;D;P;P;P	0.66497	0.855;0.855;0.944;0.924;0.809;0.776;0.888	D	0.99537	1.0962	10	0.87932	D	0	-20.898	11.993	0.53186	0.283:0.717:0.0:0.0	.	233;233;233;233;233;233;233	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	C	233	ENSP00000382342:R233C;ENSP00000382340:R233C;ENSP00000263019:R233C;ENSP00000263017:R233C;ENSP00000263014:R233C;ENSP00000263016:R233C	ENSP00000263014:R233C	R	+	1	0	ABCC1	16037849	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	1.869000	0.39519	2.298000	0.77334	0.655000	0.94253	CGC	ABCC1	-	tigrfam_Multidrug-R_assoc		0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	C	NM_004996		16130348	1	no_errors	ENST00000399408	ensembl	human	known	70_37	missense	SNP	0.991	T	T	16130348	C	T	16130348	3	4	130	1	0	0	0	0	1	0	0	0	49	652	23	2	723	2	ABCC1	16	16130348	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2101297	16130348	74224405	145	20094										
PDILT	204474	genome.wustl.edu	37	chr16	20410556	20410556	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggaaacaccggcgttaacctCtggtgagctgtggacagcag	14	10	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:20410556C>T	ENST00000302451.4	-	2	315	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	23					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCGTTAACCTCTGGTGAGCTG	0.597																																																	0													129	119	122					16																	20410556		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.67G>A	16.37:g.20410556C>T	ENSP00000305465:p.Glu23Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E23K	ENST00000302451.4	37	c.67	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802474	0.50315	.	.	ENSG00000169340	ENST00000302451	T	0.03580	3.88	4.21	3.26	0.37387	.	0.716506	0.13509	N	0.382636	T	0.03305	0.0096	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.36768	-0.9734	10	0.54805	T	0.06	.	8.0232	0.30421	0.0:0.8903:0.0:0.1097	.	23	Q8N807	PDILT_HUMAN	K	23	ENSP00000305465:E23K	ENSP00000305465:E23K	E	-	1	0	PDILT	20318057	0.001000	0.12720	0.120000	0.21714	0.010000	0.07245	0.921000	0.28718	1.361000	0.45981	0.591000	0.81541	GAG	PDILT	-	NULL		0.597	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20410556	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.131	T	T	20410556	C	T	20410556	3	4	130	1	0	0	0	0	1	0	0	0	11698	922	32	1	1731	1	PDILT	16	20410556	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	4280208	20410556	69944197	146	20095										
GTF3C1	2975	genome.wustl.edu	37	chr16	27519901	27519901	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gaagaagtcggcacagcattCttgcttctagttttcccaca	8	11	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:27519901C>G	ENST00000356183.4	-	8	1217	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R401T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	401					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCACAGCATTCTTGCTTCTAG	0.458																																																	0													206	166	180					16																	27519901		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1202G>C	16.37:g.27519901C>G	ENSP00000348510:p.Arg401Thr		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R401T	ENST00000356183.4	37	c.1202	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861046	0.91433	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.56611	0.45	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.34521	1.04	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68179	-0.5477	10	0.87932	D	0	-5.5241	18.843	0.92192	0.0:1.0:0.0:0.0	.	401;401	Q12789;Q12789-3	TF3C1_HUMAN;.	T	401;399	ENSP00000348510:R401T	ENSP00000348510:R401T	R	-	2	0	GTF3C1	27427402	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.252000	0.78309	2.538000	0.85594	0.650000	0.86243	AGA	GTF3C1	-	NULL		0.458	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27519901	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27519901	C	G	27519901	3	3	130	1	0	0	0	0	1	0	0	0	6892	913	32	1	5247	1	GTF3C1	16	27519901	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	7109345	27519901	62834852	147	20096										
APOB48R	55911	genome.wustl.edu	37	chr16	28506478	28506478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgcagtccccactgtagagcGggaggcgcaggcggctgagg	18	11	0	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:28506478G>A	ENST00000431282.1	+	2	126	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	APOBR_ENST00000328423.5_Missense_Mutation_p.R39Q|CLN3_ENST00000569430.1_Intron|APOBR_ENST00000564831.1_Missense_Mutation_p.R39Q|CLN3_ENST00000567160.1_5'UTR|CLN3_ENST00000360019.2_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	39					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACTGTAGAGCGGGAGGCGCAG	0.597																																																	0													13	16	15					16																	28506478		1949	4150	6099	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.116G>A	16.37:g.28506478G>A	ENSP00000416094:p.Arg39Gln		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.R39Q	ENST00000431282.1	37	c.116		16	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311595	0.40895	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58940	0.3;0.3	5.54	0.143	0.14820	.	.	.	.	.	T	0.42200	0.1192	L	0.32530	0.975	0.09310	N	1	P	0.45569	0.861	B	0.40659	0.336	T	0.30475	-0.9977	9	0.87932	D	0	-5.5428	5.1773	0.15141	0.2371:0.2782:0.4847:0.0	.	39	Q9NS13	.	Q	39	ENSP00000327669:R39Q;ENSP00000416094:R39Q	ENSP00000327669:R39Q	R	+	2	0	APOBR	28413979	0.065000	0.20965	0.059000	0.19551	0.067000	0.16453	-0.077000	0.11394	-0.160000	0.11002	-0.273000	0.10243	CGG	APOBR	-	NULL		0.597	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28506478	1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.033	A	A	28506478	G	A	28506478	3	1	130	1	0	0	0	0	1	0	0	0	786	1116	39	2	122	2	APOB48R	16	28506478	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	986577	28506478	61848275	148	20097										
STX1B	112755	genome.wustl.edu	37	chr16	31008859	31008859	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cgcaggtccgcggaggaacgGttcagcccctcctcctgttc	12	16	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:31008859G>C	ENST00000215095.5	-	5	549	c.318C>G	c.(316-318)aaC>aaG	p.N106K	STX1B_ENST00000565419.1_Missense_Mutation_p.N106K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	106				LNRSSAD -> STAPRPI (in Ref. 2; BAA07152). {ECO:0000305}.	intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CGGAGGAACGGTTCAGCCCCT	0.706																																																	0													45	39	41					16																	31008859		2197	4299	6496	SO:0001583	missense	112755			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.318C>G	16.37:g.31008859G>C	ENSP00000215095:p.Asn106Lys		Q15531|Q2VPS2	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.N106K	ENST00000215095.5	37	c.318	CCDS10699.1	16	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139649	0.56936	.	.	ENSG00000099365	ENST00000215095	T	0.18960	2.18	4.38	2.35	0.29111	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.20550	0.046;0.046	B;B	0.23574	0.047;0.047	T	0.08066	-1.0740	10	0.28530	T	0.3	.	5.6135	0.17418	0.3691:0.0:0.6309:0.0	.	106;106	Q2VPS2;P61266	.;STX1B_HUMAN	K	106	ENSP00000215095:N106K	ENSP00000215095:N106K	N	-	3	2	STX1B	30916360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.179000	0.58290	0.428000	0.26173	0.655000	0.94253	AAC	STX1B	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.706	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1B	HGNC	protein_coding	OTTHUMT00000255521.2	G			31008859	-1	no_errors	ENST00000215095	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31008859	G	C	31008859	3	2	130	1	0	0	0	0	1	0	0	0	15374	1252	44	4	572	4	STX1B	16	31008859	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2502381	31008859	59345894	149	20098										
LONP2	83752	genome.wustl.edu	37	chr16	48385529	48385529	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	caaagtgctggcggcacacaGagcgggactgaagcaagtca	14	10	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:48385529G>C	ENST00000285737.4	+	15	2468	c.2375G>C	c.(2374-2376)aGa>aCa	p.R792T	LONP2_ENST00000535754.1_Missense_Mutation_p.R748T|LONP2_ENST00000564259.1_3'UTR	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACACAGAGCGGGACTG	0.453																																																	0													68	71	70					16																	48385529		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2375G>C	16.37:g.48385529G>C	ENSP00000285737:p.Arg792Thr			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.R792T	ENST00000285737.4	37	c.2375	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.326517	0.95708	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.39997	1.05;1.05	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.043141	0.85682	D	0.000000	T	0.76463	0.3991	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82151	-0.0599	10	0.87932	D	0	-24.9095	20.3938	0.98981	0.0:0.0:1.0:0.0	.	748;792	B7ZKL7;Q86WA8	.;LONP2_HUMAN	T	792;521;748	ENSP00000285737:R792T;ENSP00000445426:R748T	ENSP00000285737:R792T	R	+	2	0	LONP2	46943030	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.827000	0.99397	2.831000	0.97527	0.585000	0.79938	AGA	LONP2	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon		0.453	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	G	NM_031490		48385529	1	no_errors	ENST00000285737	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48385529	G	C	48385529	3	2	130	1	0	0	0	0	1	0	0	0	8916	942	33	1	2433	1	LONP2	16	48385529	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	17376670	48385529	41969224	150	20099										
ZFP90	146198	genome.wustl.edu	37	chr16	68598252	68598252	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gcatcacagaattcatactgGagagaaaccctatgaatgta	8	8	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:68598252G>C	ENST00000570495.1	+	5	1854	c.1562G>C	c.(1561-1563)gGa>gCa	p.G521A	ZFP90_ENST00000563169.2_Missense_Mutation_p.G521A|ZFP90_ENST00000398253.2_Missense_Mutation_p.G521A			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	521					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATTCATACTGGAGAGAAACCC	0.418																																																	0													60	66	64					16																	68598252		2192	4300	6492	SO:0001583	missense	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1562G>C	16.37:g.68598252G>C	ENSP00000460547:p.Gly521Ala		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G521A	ENST00000570495.1	37	c.1562	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017069	0.75161	.	.	ENSG00000184939	ENST00000398253	T	0.26373	1.74	5.95	5.95	0.96441	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52821	0.1758	M	0.72479	2.2	0.51767	D	0.999936	D	0.89917	1.0	D	0.87578	0.998	T	0.51568	-0.8689	9	0.87932	D	0	-10.188	17.8725	0.88815	0.0:0.0:1.0:0.0	.	521	Q8TF47	ZFP90_HUMAN	A	521	ENSP00000381304:G521A	ENSP00000381304:G521A	G	+	2	0	ZFP90	67155753	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.070000	0.57548	2.823000	0.97156	0.561000	0.74099	GGA	ZFP90	-	pfscan_Znf_C2H2		0.418	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	G	XM_085375		68598252	1	no_errors	ENST00000398253	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68598252	G	C	68598252	3	2	130	1	0	0	0	0	1	0	0	0	17684	1174	41	1	1576	1	ZFP90	16	68598252	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	20212723	68598252	21756501	151	20100										
DNAH2	146754	genome.wustl.edu	37	chr17	7679425	7679425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cacctggccctcaggaagttCctcaacaagagggacaaatg	10	12	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:7679425C>A	ENST00000572933.1	+	31	6365	c.4905C>A	c.(4903-4905)ttC>ttA	p.F1635L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1635L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1635	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGAAGTTCCTCAACAAGA	0.627																																																	0													66	61	63					17																	7679425		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4905C>A	17.37:g.7679425C>A	ENSP00000458355:p.Phe1635Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.F1635L	ENST00000572933.1	37	c.4905	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	8.586	0.883525	0.17467	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22134	1.97	5.76	1.05	0.20165	.	0.438076	0.24003	N	0.042454	T	0.06462	0.0166	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29640	-1.0005	10	0.09338	T	0.73	.	5.2204	0.15366	0.0:0.397:0.2318:0.3712	.	1635	Q9P225	DYH2_HUMAN	L	1635	ENSP00000373825:F1635L	ENSP00000353818:F1635L	F	+	3	2	DNAH2	7620150	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	1.389000	0.34453	0.239000	0.21243	-0.136000	0.14681	TTC	DNAH2	-	NULL		0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7679425	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7679425	C	A	7679425	3	1	130	1	0	0	0	0	1	0	0	0	4612	854	30	3	5023	3	DNAH2	17	7679425	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09		7679425	73515785	152	20101										
GAS7	8522	genome.wustl.edu	37	chr17	9850223	9850223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctgcttacccagaagtagtcGcagtagctccactcggttgg	11	12	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:9850223G>A	ENST00000432992.2	-	6	763	c.603C>T	c.(601-603)tgC>tgT	p.C201C	GAS7_ENST00000323816.4_Silent_p.C141C|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Silent_p.C61C|GAS7_ENST00000579158.1_Silent_p.C137C|GAS7_ENST00000542249.1_Silent_p.C137C|GAS7_ENST00000437099.2_Silent_p.C137C|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000585266.1_Silent_p.C141C|GAS7_ENST00000580865.1_Silent_p.C61C|GAS7_ENST00000578655.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	201	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGAAGTAGTCGCAGTAGCTCC	0.572			T	MLL	AML*																																			Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													103	68	80					17																	9850223		2203	4300	6503	SO:0001819	synonymous_variant	8522			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.603C>T	17.37:g.9850223G>A			A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	pfam_FCH,pfam_WW_Rsp5_WWP,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_FCH,pfscan_FCH,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP	p.C201	ENST00000432992.2	37	c.603	CCDS11152.1	17																																																																																			GAS7	-	pfscan_FCH		0.572	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	G	NM_003644, NM_201432, NM_201433		9850223	-1	no_errors	ENST00000432992	ensembl	human	known	70_37	silent	SNP	0.111	A	A	9850223	G	A	9850223	2	1	130	1	0	0	0	0	0	0	0	1	6269	1079	38	2		2	GAS7	17	9850223	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2170798	9850223	71344987	153	20102										
ACCN1	40	genome.wustl.edu	37	chr17	31438962	31438962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tccccagatgggcaggtactCatcctgctgaatgtccagca	10	13	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:31438962C>T	ENST00000359872.6	-	2	1440	c.679G>A	c.(679-681)Gag>Aag	p.E227K	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.E278K	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	227					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.E227*(1)|p.E278*(1)								Amiloride(DB00594)	GGCAGGTACTCATCCTGCTGA	0.587																																																	2	Substitution - Nonsense(2)	lung(2)											161	136	144					17																	31438962		2203	4300	6503	SO:0001583	missense	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.679G>A	17.37:g.31438962C>T	ENSP00000352934:p.Glu227Lys		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E278K	ENST00000359872.6	37	c.832	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.629823	0.96671	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.68624	-0.34;-0.34	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	M	0.88570	2.965	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.85256	0.1047	10	0.59425	D	0.04	-23.9831	16.0549	0.80794	0.0:1.0:0.0:0.0	.	227;278	Q16515;E9PBX2	ACCN1_HUMAN;.	K	278;227;33	ENSP00000225823:E278K;ENSP00000352934:E227K	ENSP00000225823:E278K	E	-	1	0	ACCN1	28463075	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.818000	0.86416	0.285000	0.22329	-0.388000	0.06559	GAG	ASIC2	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	C	NM_183377, NM_001094		31438962	-1	no_errors	ENST00000225823	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31438962	C	T	31438962	3	4	130	1	0	0	0	0	1	0	0	0	128	835	29	1	895	1	ACCN1	17	31438962	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	21588739	31438962	49756248	154	20103										
ETV4	2118	genome.wustl.edu	37	chr17	41606046	41606046	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gctggacgctgattgtccggGaaggccaaagagaagagggc	17	8	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:41606046G>A	ENST00000319349.5	-	13	1594	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	ETV4_ENST00000545089.1_Silent_p.F378F|ETV4_ENST00000538265.1_Silent_p.F393F|ETV4_ENST00000393664.2_Silent_p.F432F|ETV4_ENST00000586826.1_Silent_p.F155F|ETV4_ENST00000591713.1_Silent_p.F432F|ETV4_ENST00000545954.1_Silent_p.F393F	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	432					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GATTGTCCGGGAAGGCCAAAG	0.582			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0													70	61	64					17																	41606046		2203	4300	6503	SO:0001819	synonymous_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1296C>T	17.37:g.41606046G>A			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.F432	ENST00000319349.5	37	c.1296	CCDS11465.1	17																																																																																			ETV4	-	NULL		0.582	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	G	NM_001986		41606046	-1	no_errors	ENST00000319349	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41606046	G	A	41606046	2	1	130	1	0	0	0	0	0	0	0	1	5293	1165	41	1		1	ETV4	17	41606046	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	10167084	41606046	39589164	155	20104										
KIAA0195	9772	genome.wustl.edu	37	chr17	73481598	73481598	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gcagtgctggaaggacatctCagggagcggaagaagtgtct	16	7	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:73481598C>T	ENST00000314256.7	+	3	508	c.114C>T	c.(112-114)ctC>ctT	p.L38L	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.L48L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	38						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGACATCTCAGGGAGCGGA	0.647																																																	0													102	100	101					17																	73481598		2203	4300	6503	SO:0001819	synonymous_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.114C>T	17.37:g.73481598C>T			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.L38	ENST00000314256.7	37	c.114	CCDS32732.1	17																																																																																			KIAA0195	-	NULL		0.647	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	C	NM_014738		73481598	1	no_errors	ENST00000314256	ensembl	human	known	70_37	silent	SNP	1.000	T	T	73481598	C	T	73481598	2	4	130	1	0	0	0	0	0	0	0	1	8180	813	29	1		1	KIAA0195	17	73481598	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	31875552	73481598	7713612	156	20105										
KIAA0195	9772	genome.wustl.edu	37	chr17	73482023	73482023	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cactggccgggggcctcactCatgctactggccgtgctgct	13	15	2	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:73482023C>T	ENST00000314256.7	+	4	610	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.L82L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	72						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCCTCACTCATGCTACTGG	0.662																																																	0													25	24	24					17																	73482023		2203	4300	6503	SO:0001819	synonymous_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.216C>T	17.37:g.73482023C>T			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.L72	ENST00000314256.7	37	c.216	CCDS32732.1	17																																																																																			KIAA0195	-	NULL		0.662	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	C	NM_014738		73482023	1	no_errors	ENST00000314256	ensembl	human	known	70_37	silent	SNP	0.940	T	T	73482023	C	T	73482023	2	4	130	1	0	0	0	0	0	0	0	1	8180	813	29	1		1	KIAA0195	17	73482023	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	425	73482023	7713187	157	20106										
EPB41L3	23136	genome.wustl.edu	37	chr18	5397314	5397314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cccactcgcgtgcaccacacGccgctcctccaccaacacgg	7	22	0	0	rs368913981		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:5397314G>A	ENST00000341928.2	-	18	2924	c.2584C>T	c.(2584-2586)Cgt>Tgt	p.R862C	EPB41L3_ENST00000400111.3_Missense_Mutation_p.R640C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R862C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.R167C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R693C|EPB41L3_ENST00000427684.2_Missense_Mutation_p.R159C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R640C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	862	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCACCACACGCCGCTCCTCC	0.612																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	61	61		2584	4.9	0.4	18		61	0,8600		0,0,4300	no	missense	EPB41L3	NM_012307.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	862/1088	5397314	1,13005	2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2584C>T	18.37:g.5397314G>A	ENSP00000343158:p.Arg862Cys		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.R862C	ENST00000341928.2	37	c.2584	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120567	0.37436	2.27E-4	0.0	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52	5.73	4.86	0.63082	.	0.985385	0.08343	N	0.960503	T	0.64483	0.2602	L	0.47716	1.5	0.39341	D	0.965584	D;D;D;D;P;P;D;D	0.76494	0.99;0.994;0.993;0.975;0.926;0.95;0.975;0.999	P;P;P;P;B;P;P;P	0.57846	0.584;0.724;0.828;0.582;0.226;0.599;0.462;0.614	T	0.55444	-0.8140	10	0.44086	T	0.13	.	14.7702	0.69671	0.0692:0.0:0.9308:0.0	.	693;159;167;254;531;640;862;97	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	C	862;531;693;531;159;167;862;640	ENSP00000343158:R862C;ENSP00000441174:R693C;ENSP00000392195:R159C;ENSP00000442233:R167C;ENSP00000341138:R862C;ENSP00000382981:R640C	ENSP00000343158:R862C	R	-	1	0	EPB41L3	5387314	0.956000	0.32656	0.392000	0.26245	0.017000	0.09413	2.459000	0.45023	1.429000	0.47314	0.591000	0.81541	CGT	EPB41L3	-	pirsf_Band_41_protein		0.612	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	G	NM_012307		5397314	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	0.947	A	A	5397314	G	A	5397314	3	1	130	1	0	0	0	0	1	0	0	0	5166	1087	38	2	699	2	EPB41L3	18	5397314	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		5397314	72679934	158	20107										
ANKRD12	23253	genome.wustl.edu	37	chr18	9255242	9255242	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cataaattgaagcataaagaGagggaaaaagaaaagcataa	9	3	0	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:9255242G>A	ENST00000262126.4	+	9	2217	c.1977G>A	c.(1975-1977)gaG>gaA	p.E659E	ANKRD12_ENST00000400020.3_Silent_p.E636E|ANKRD12_ENST00000383440.2_Silent_p.E636E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	659						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						agcataaagagagggaaaaag	0.299																																																	0													41	45	44					18																	9255242		2194	4286	6480	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1977G>A	18.37:g.9255242G>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E659	ENST00000262126.4	37	c.1977	CCDS11843.1	18																																																																																			ANKRD12	-	NULL		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255242	1	no_errors	ENST00000262126	ensembl	human	known	70_37	silent	SNP	0.990	A	A	9255242	G	A	9255242	2	1	130	1	0	0	0	0	0	0	0	1	640	933	33	1		1	ANKRD12	18	9255242	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	3857928	9255242	68822006	159	20108										
DCC	1630	genome.wustl.edu	37	chr18	50705389	50705389	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cagctcactgtgggaaacctGaagccagaagccatgtacac	10	12	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:50705389G>A	ENST00000442544.2	+	9	2092	c.1476G>A	c.(1474-1476)ctG>ctA	p.L492L	DCC_ENST00000581580.1_Silent_p.L147L|DCC_ENST00000412726.1_Silent_p.L340L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	492	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGAAACCTGAAGCCAGAAG	0.483																																																	0													98	88	91					18																	50705389		2203	4300	6503	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1476G>A	18.37:g.50705389G>A				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L492	ENST00000442544.2	37	c.1476	CCDS11952.1	18																																																																																			DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50705389	1	no_errors	ENST00000442544	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50705389	G	A	50705389	2	1	130	1	0	0	0	0	0	0	0	1	4287	1277	45	1		1	DCC	18	50705389	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	41450147	50705389	27371859	160	20109										
NEDD4L	23327	genome.wustl.edu	37	chr18	56033348	56033348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	taaaagctagactgtggattGagtttgaatcagagaaaggt	12	3	1	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:56033348G>C	ENST00000400345.3	+	21	2234	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	NEDD4L_ENST00000256830.9_Missense_Mutation_p.E547Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E511Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E623Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E643Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E510Q|NEDD4L_ENST00000456986.1_Missense_Mutation_p.E530Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E631Q|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E587Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E510Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E530Q	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	651	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTGTGGATTGAGTTTGAATC	0.413																																																	0													113	108	110					18																	56033348		1871	4109	5980	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1951G>C	18.37:g.56033348G>C	ENSP00000383199:p.Glu651Gln		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.E651Q	ENST00000400345.3	37	c.1951	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.187724	0.94923	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.78003	0.88;0.88;0.88;0.88;-1.14;-1.14;0.88;-1.14;-1.14;-1.14	5.54	5.54	0.83059	HECT (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	L	0.46567	1.45	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.996;1.0;1.0	D;D;P;D;D;D	0.79108	0.992;0.99;0.713;0.975;0.983;0.99	D	0.86246	0.1646	10	0.87932	D	0	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	623;643;510;587;651;631	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	Q	651;631;587;547;511;530;643;510;510;530	ENSP00000383199:E651Q;ENSP00000372301:E631Q;ENSP00000348847:E587Q;ENSP00000256830:E547Q;ENSP00000256832:E511Q;ENSP00000411947:E530Q;ENSP00000350569:E643Q;ENSP00000393395:E510Q;ENSP00000405440:E510Q;ENSP00000389406:E530Q	ENSP00000256830:E547Q	E	+	1	0	NEDD4L	54184328	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	GAG	NEDD4L	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.413	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	G			56033348	1	no_errors	ENST00000400345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56033348	G	C	56033348	3	2	130	1	0	0	0	0	1	0	0	0	10335	1291	45	1	2061	1	NEDD4L	18	56033348	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	5327959	56033348	22043900	161	20110										
TSHZ1	10194	genome.wustl.edu	37	chr18	72999842	72999842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggtgtccagcgtggctgattCggtggcatcacctctgcggg	16	11	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:72999842C>T	ENST00000580243.1	+	2	2828	c.2480C>T	c.(2479-2481)tCg>tTg	p.S827L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S782L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	827					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGGCTGATTCGGTGGCATCA	0.577																																																	0													64	63	64					18																	72999842		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2480C>T	18.37:g.72999842C>T	ENSP00000464391:p.Ser827Leu		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S827L	ENST00000580243.1	37	c.2480		18	.	.	.	.	.	.	.	.	.	.	C	0.497	-0.872788	0.02570	.	.	ENSG00000179981	ENST00000322038	T	0.12569	2.67	5.26	4.39	0.52855	.	1.009570	0.07929	N	0.977217	T	0.18299	0.0439	L	0.59436	1.845	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.45745	-0.9240	10	0.56958	D	0.05	-2.4772	9.2822	0.37735	0.0:0.7691:0.1542:0.0767	.	827	Q6ZSZ6	TSH1_HUMAN	L	782	ENSP00000323584:S782L	ENSP00000323584:S782L	S	+	2	0	TSHZ1	71128830	0.272000	0.24172	0.000000	0.03702	0.004000	0.04260	4.623000	0.61247	-1.838000	0.01187	-0.910000	0.02820	TCG	TSHZ1	-	NULL		0.577	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	C	NM_005786		72999842	1	no_errors	ENST00000580243	ensembl	human	known	70_37	missense	SNP	0.000	T	T	72999842	C	T	72999842	3	4	130	1	0	0	0	0	1	0	0	0	16654	893	31	1	2347	1	TSHZ1	18	72999842	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	16966494	72999842	5077406	162	20111										
MUC16	94025	genome.wustl.edu	37	chr19	9082960	9082960	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	taaaacctgttgattgaaatGagcttgcacttatggccttt	8	7	0	3	rs201674472		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:9082960G>C	ENST00000397910.4	-	1	9058	c.8855C>G	c.(8854-8856)tCa>tGa	p.S2952*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2953	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATTGAAATGAGCTTGCACT	0.507																																																	0													129	122	124					19																	9082960		1979	4182	6161	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8855C>G	19.37:g.9082960G>C	ENSP00000381008:p.Ser2952*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S2952*	ENST00000397910.4	37	c.8855	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	50	17.289714	0.99883	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.723	0.723	0.18231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2952	.	ENSP00000381008:S2952X	S	-	2	0	MUC16	8943960	0.000000	0.05858	0.008000	0.14137	0.606000	0.37113	-1.126000	0.03254	0.669000	0.31146	0.298000	0.19748	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9082960	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	nonsense	SNP	0.010	C	C	9082960	G	C	9082960	4	2	130	1	0	0	0	0	0	1	0	0	9996	1294	45	1	35004	1	MUC16	19	9082960	Nonsense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		9082960	50046023	163	20112										
HOOK2	29911	genome.wustl.edu	37	chr19	12875631	12875631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	acacccagcgtcctcaccatGcgggccttgtccacgtagcg	10	17	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:12875631G>A	ENST00000397668.3	-	20	1897	c.1824C>T	c.(1822-1824)cgC>cgT	p.R608R	HOOK2_ENST00000264827.5_Silent_p.R606R|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	608	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCTCACCATGCGGGCCTTGT	0.597											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	86	85					19																	12875631		2077	4212	6289	SO:0001819	synonymous_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1824C>T	19.37:g.12875631G>A		683	O60562	Silent	SNP	pfam_HOOK,superfamily_UBA-like	p.R608	ENST00000397668.3	37	c.1824	CCDS42508.1	19																																																																																			HOOK2	-	pfam_HOOK		0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	G	NM_013312		12875631	-1	no_errors	ENST00000397668	ensembl	human	known	70_37	silent	SNP	0.489	A	A	12875631	G	A	12875631	2	1	130	1	0	0	0	0	0	0	0	1	7303	1306	46	4		4	HOOK2	19	12875631	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	3792671	12875631	46253352	164	20113										
ILVBL	10994	genome.wustl.edu	37	chr19	15226402	15226402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	taggccaggccacaggccacGttgctgcccagagagggcac	14	14	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:15226402G>A	ENST00000263383.3	-	15	1834	c.1695C>T	c.(1693-1695)aaC>aaT	p.N565N	ILVBL_ENST00000534378.1_Silent_p.N458N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	565						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACAGGCCACGTTGCTGCCCA	0.602																																																	0													57	58	57					19																	15226402		2203	4300	6503	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1695C>T	19.37:g.15226402G>A			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.N565	ENST00000263383.3	37	c.1695	CCDS12325.1	19																																																																																			ILVBL	-	pfam_TPP_enzyme-bd_C		0.602	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	G	NM_006844		15226402	-1	no_errors	ENST00000263383	ensembl	human	known	70_37	silent	SNP	0.982	A	A	15226402	G	A	15226402	2	1	130	1	0	0	0	0	0	0	0	1	7735	1136	40	2		2	ILVBL	19	15226402	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2350771	15226402	43902581	165	20114										
ZNF506	440515	genome.wustl.edu	37	chr19	19905635	19905635	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcttatgtttagagaggcttGagtaccaggtaaaggttttg	12	4	1	2	rs77787999		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:19905635G>C	ENST00000540806.2	-	4	1149	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	ZNF506_ENST00000443905.2_Nonsense_Mutation_p.S354*|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Nonsense_Mutation_p.S322*|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AGAGAGGCTTGAGTACCAGGT	0.403																																																	0													85	90	88					19																	19905635		2147	4280	6427	SO:0001587	stop_gained	440515			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1061C>G	19.37:g.19905635G>C	ENSP00000440625:p.Ser354*		B3KTH6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S354*	ENST00000540806.2	37	c.1061	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	-	16.37	3.103990	0.56291	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.4069	0.26995	0.0:0.0:1.0:0.0	.	.	.	.	X	354;354;322	.	ENSP00000393835:S354X	S	-	2	0	ZNF506	19766635	0.010000	0.17322	0.220000	0.23810	0.207000	0.24258	0.699000	0.25586	0.430000	0.26230	0.430000	0.28490	TCA	ZNF506	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	G	XM_036218		19905635	-1	no_errors	ENST00000443905	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	19905635	G	C	19905635	4	2	130	1	0	0	0	0	0	1	0	0	17982	1294	45	1	277	1	ZNF506	19	19905635	Nonsense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	4679233	19905635	39223348	166	20115										
ZNF536	9745	genome.wustl.edu	37	chr19	30935982	30935982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgaaatccagctgcatcgagCggctgcaggcggctgccaag	14	12	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:30935982C>T	ENST00000355537.3	+	2	1660	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	505					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCATCGAGCGGCTGCAGGC	0.647																																																	0													33	39	37					19																	30935982		2190	4278	6468	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1513C>T	19.37:g.30935982C>T	ENSP00000347730:p.Arg505Trp		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R505W	ENST00000355537.3	37	c.1513	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715920	0.48622	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.53	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.47716	1.5	0.48975	D	0.999734	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01524	-1.1333	10	0.72032	D	0.01	-33.6637	14.0449	0.64700	0.5146:0.4854:0.0:0.0	.	505;505	A7E228;O15090	.;ZN536_HUMAN	W	505	ENSP00000347730:R505W	ENSP00000347730:R505W	R	+	1	2	ZNF536	35627822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.197000	0.51028	0.628000	0.30357	0.655000	0.94253	CGG	ZNF536	-	NULL		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935982	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30935982	C	T	30935982	3	4	130	1	0	0	0	0	1	0	0	0	18004	759	27	2	1515	2	ZNF536	19	30935982	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	11030347	30935982	28193001	167	20116										
CCDC123	84902	genome.wustl.edu	37	chr19	33370085	33370085	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	attctagcaggtgggggcatGagacttcaggtcataggagc	15	7	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:33370085G>A	ENST00000305768.5	-	19	2423	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	779					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GTGGGGGCATGAGACTTCAGG	0.627																																																	0													74	69	70					19																	33370085		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2335C>T	19.37:g.33370085G>A	ENSP00000306105:p.His779Tyr		B9EGA6|Q8N5J8	Missense_Mutation	SNP	NULL	p.H779Y	ENST00000305768.5	37	c.2335	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	G	0.232	-1.020128	0.02078	.	.	ENSG00000121289	ENST00000305768	T	0.29917	1.55	4.99	2.46	0.29980	.	0.823573	0.10428	N	0.675857	T	0.11793	0.0287	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.35624	-0.9781	10	0.02654	T	1	0.1234	5.0445	0.14477	0.3432:0.0:0.6568:0.0	.	779	Q96ST8	CEP89_HUMAN	Y	779	ENSP00000306105:H779Y	ENSP00000306105:H779Y	H	-	1	0	CEP89	38061925	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.467000	0.35321	1.229000	0.43630	0.462000	0.41574	CAT	CEP89	-	NULL		0.627	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	G	NM_032816		33370085	-1	no_errors	ENST00000305768	ensembl	human	known	70_37	missense	SNP	0.001	A	A	33370085	G	A	33370085	3	1	130	1	0	0	0	0	1	0	0	0	2764	1290	45	1	20	1	CCDC123	19	33370085	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	2434103	33370085	25758898	168	20117										
ZNF571	51276	genome.wustl.edu	37	chr19	38055835	38055835	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	cttacatttgtagggcttttCacctgtatgaattctttgat	7	7	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:38055835C>T	ENST00000328550.2	-	4	1594	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E499K|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.E499K|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E499K|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTTTCACCTGTATGA	0.363																																																	0													79	77	77					19																	38055835		2203	4300	6503	SO:0001583	missense	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1495G>A	19.37:g.38055835C>T	ENSP00000333660:p.Glu499Lys		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E499K	ENST00000328550.2	37	c.1495	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753429	0.69648	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24350	1.86;1.86;1.86	3.78	0.287	0.15714	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33118	0.0852	L	0.45470	1.425	0.25030	N	0.991277	P	0.48998	0.918	P	0.58077	0.832	T	0.15206	-1.0445	9	0.56958	D	0.05	.	5.4972	0.16809	0.0:0.6361:0.1657:0.1982	.	499	Q7Z3V5	ZN571_HUMAN	K	499	ENSP00000333660:E499K;ENSP00000392638:E499K;ENSP00000351594:E499K	ENSP00000333660:E499K	E	-	1	0	ZNF571	42747675	0.336000	0.24757	0.013000	0.15412	0.987000	0.75469	1.561000	0.36342	-0.044000	0.13491	0.460000	0.39030	GAA	ZNF571	-	pfscan_Znf_C2H2		0.363	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	C	NM_016536		38055835	-1	no_errors	ENST00000328550	ensembl	human	known	70_37	missense	SNP	0.997	T	T	38055835	C	T	38055835	3	4	130	1	0	0	0	0	1	0	0	0	18033	835	29	1	338	1	ZNF571	19	38055835	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	4685750	38055835	21073148	169	20118										
EXOSC5	56915	genome.wustl.edu	37	chr19	41903118	41903118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	aagcagagccatctggccgcGacagcaggttctgttcgcag	13	12	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:41903118G>A	ENST00000221233.4	-	1	266	c.116C>T	c.(115-117)tCg>tTg	p.S39L	BCKDHA_ENST00000457836.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.S39L	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	39					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ATCTGGCCGCGACAGCAGGTT	0.577																																																	0													128	125	126					19																	41903118		2203	4300	6503	SO:0001583	missense	56915			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.116C>T	19.37:g.41903118G>A	ENSP00000221233:p.Ser39Leu		Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.S39L	ENST00000221233.4	37	c.116	CCDS12580.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.137236	0.94517	.	.	ENSG00000077348	ENST00000221233	T	0.66995	-0.24	5.55	4.5	0.54988	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.172360	0.52532	D	0.000063	T	0.81322	0.4798	M	0.81497	2.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	D	0.84016	0.0351	10	0.66056	D	0.02	-34.4528	13.6491	0.62299	0.0:0.1554:0.8446:0.0	.	39	Q9NQT4	EXOS5_HUMAN	L	39	ENSP00000221233:S39L	ENSP00000221233:S39L	S	-	2	0	EXOSC5	46594958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.634000	0.74290	1.551000	0.49450	0.590000	0.80494	TCG	EXOSC5	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.577	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	HGNC	protein_coding	OTTHUMT00000463492.1	G	NM_020158		41903118	-1	no_errors	ENST00000221233	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41903118	G	A	41903118	3	1	130	1	0	0	0	0	1	0	0	0	5330	1059	37	1	615	1	EXOSC5	19	41903118	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	3847283	41903118	17225865	170	20119										
ZNF223	7766	genome.wustl.edu	37	chr19	44571244	44571244	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	attttgaatcataagagactCcattgccgaaaaaaaccatt	5	8	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:44571244C>G	ENST00000434772.3	+	5	1518	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	ZNF223_ENST00000591793.1_Silent_p.L531L	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	421					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.L421L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATAAGAGACTCCATTGCCGAA	0.418																																																	1	Substitution - coding silent(1)	lung(1)											108	109	109					19																	44571244		2203	4300	6503	SO:0001819	synonymous_variant	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1263C>G	19.37:g.44571244C>G			Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L531	ENST00000434772.3	37	c.1593	CCDS12635.1	19																																																																																			ZNF223	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_genename	protein_coding	OTTHUMT00000460469.2	C			44571244	1	no_errors	ENST00000591793	ensembl	human	known	70_37	silent	SNP	0.292	G	G	44571244	C	G	44571244	2	3	130	1	0	0	0	0	0	0	0	1	17807	842	30	1		1	ZNF223	19	44571244	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	2668126	44571244	14557739	171	20120										
CACNG7	59284	genome.wustl.edu	37	chr19	54445319	54445319	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gtgatgtccgtgtacctgttCaccaagcgctacgcggagga	13	11	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:54445319C>T	ENST00000391767.1	+	6	812	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CACNG7_ENST00000222212.2_Silent_p.F200F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	200				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGTACCTGTTCACCAAGCGCT	0.677																																																	0													53	43	46					19																	54445319		2203	4300	6503	SO:0001819	synonymous_variant	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.600C>T	19.37:g.54445319C>T			Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.F200	ENST00000391767.1	37	c.600	CCDS12868.1	19																																																																																			CACNG7	-	NULL		0.677	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	C			54445319	1	no_errors	ENST00000222212	ensembl	human	known	70_37	silent	SNP	1.000	T	T	54445319	C	T	54445319	2	4	130	1	0	0	0	0	0	0	0	1	2567	825	29	1		1	CACNG7	19	54445319	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	9874075	54445319	4683664	172	20121										
LILRA3	11026	genome.wustl.edu	37	chr19	54803494	54803494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	accagctccagggggtcactGctctctgagaggcctgcagt	13	13	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:54803494G>T	ENST00000251390.3	-	3	421	c.330C>A	c.(328-330)agC>agA	p.S110R	LILRA3_ENST00000391745.1_Missense_Mutation_p.S127R|LILRA3_ENST00000391744.3_Missense_Mutation_p.S110R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	110					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTCACTGCTCTCTGAGA	0.607																																																	0													61	58	59					19																	54803494		2194	4149	6343	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.330C>A	19.37:g.54803494G>T	ENSP00000251390:p.Ser110Arg		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.S110R	ENST00000251390.3	37	c.330	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	2.551	-0.304065	0.05495	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.12672	2.66;2.66;2.66	2.5	1.4	0.22301	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.642600	0.01358	N	0.012158	T	0.06600	0.0169	N	0.02665	-0.54	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.16289	0.013;0.015	T	0.29397	-1.0013	10	0.23891	T	0.37	.	7.1915	0.25828	0.0:0.2792:0.7208:0.0	.	110;110	E7EU74;Q8N6C8	.;LIRA3_HUMAN	R	110;110;127	ENSP00000251390:S110R;ENSP00000375624:S110R;ENSP00000375625:S127R	ENSP00000251390:S110R	S	-	3	2	LILRA3	59495306	0.002000	0.14202	0.038000	0.18304	0.021000	0.10359	-0.753000	0.04792	0.398000	0.25338	0.485000	0.47835	AGC	LILRA3	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.607	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	G			54803494	-1	no_errors	ENST00000251390	ensembl	human	known	70_37	missense	SNP	0.224	T	T	54803494	G	T	54803494	3	4	130	1	0	0	0	0	1	0	0	0	8806	1310	46	4	1009	4	LILRA3	19	54803494	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	358175	54803494	4325489	173	20122										
ZNF814	730051	genome.wustl.edu	37	chr19	58384363	58384363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	acattcactgcactcataagGcttttctccagtgtgaactc	6	12	3	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:58384363G>T	ENST00000435989.2	-	3	2629	c.2395C>A	c.(2395-2397)Cct>Act	p.P799T	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	799					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACTCATAAGGCTTTTCTCCA	0.403																																																	0													82	71	74					19																	58384363		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2395C>A	19.37:g.58384363G>T	ENSP00000410545:p.Pro799Thr		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P799T	ENST00000435989.2	37	c.2395	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	15.40	2.821572	0.50633	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.16897	2.31	2.56	0.168	0.15012	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	M	0.69185	2.1	0.22996	N	0.998458	D	0.58268	0.982	P	0.53689	0.732	T	0.11036	-1.0604	9	0.66056	D	0.02	.	6.1515	0.20314	0.1194:0.1909:0.6897:0.0	.	799	B7Z6K7	ZN814_HUMAN	T	799;521	ENSP00000410545:P799T	ENSP00000365378:P521T	P	-	1	0	ZNF814	63076175	1.000000	0.71417	0.018000	0.16275	0.250000	0.25880	4.278000	0.58946	0.008000	0.14787	0.298000	0.19748	CCT	ZNF814	-	pfscan_Znf_C2H2		0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384363	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.969	T	T	58384363	G	T	58384363	3	4	130	1	0	0	0	0	1	0	0	0	18206	1203	42	4	176	4	ZNF814	19	58384363	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	3580869	58384363	744620	174	20123										
ZNF544	27300	genome.wustl.edu	37	chr19	58773145	58773145	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgtgggaaatcttttagccaGagctatgaccttgtcataca	9	8	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:58773145G>T	ENST00000596652.1	+	6	1407	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q249H|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q363H|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q391H|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q363H|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q363H			Q6NX49	ZN544_HUMAN	zinc finger protein 544	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTTTTAGCCAGAGCTATGACC	0.448																																																	0													88	85	86					19																	58773145		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1173G>T	19.37:g.58773145G>T	ENSP00000469635:p.Gln391His		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q391H	ENST00000596652.1	37	c.1173	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052451	0.36181	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15487	2.42;5.25	2.55	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	L	0.50919	1.6	0.39369	D	0.966054	B;P;B	0.34662	0.43;0.462;0.132	B;B;B	0.37304	0.117;0.246;0.046	T	0.08513	-1.0718	9	0.36615	T	0.2	.	10.7859	0.46405	0.0:0.0:1.0:0.0	.	363;363;391	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	391;363;55	ENSP00000269829:Q391H;ENSP00000394341:Q363H	ENSP00000269829:Q391H	Q	+	3	2	ZNF544	63464957	0.000000	0.05858	0.030000	0.17652	0.749000	0.42624	0.078000	0.14761	1.431000	0.47355	0.491000	0.48974	CAG	ZNF544	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	G	NM_014480		58773145	1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.522	T	T	58773145	G	T	58773145	3	4	130	1	0	0	0	0	1	0	0	0	18007	933	33	3	1187	3	ZNF544	19	58773145	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	388782	58773145	355838	175	20124										
NFATC2	4773	genome.wustl.edu	37	chr20	50139763	50139763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tagatgtggcgaggcaggccGgccttggatggggcggcaga	20	8	0	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr20:50139763G>A	ENST00000396009.3	-	2	1236	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	NFATC2_ENST00000609507.1_Silent_p.A120A|NFATC2_ENST00000414705.1_Silent_p.A319A|NFATC2_ENST00000609943.1_Silent_p.A319A|NFATC2_ENST00000371564.3_Silent_p.A339A|NFATC2_ENST00000610033.1_Silent_p.A120A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	339					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GAGGCAGGCCGGCCTTGGATG	0.677																																																	0													33	43	40					20																	50139763		2200	4296	6496	SO:0001819	synonymous_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1017C>T	20.37:g.50139763G>A			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.A339	ENST00000396009.3	37	c.1017	CCDS13437.1	20																																																																																			NFATC2	-	NULL		0.677	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	G	NM_012340		50139763	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	silent	SNP	0.998	A	A	50139763	G	A	50139763	2	1	130	1	0	0	0	0	0	0	0	1	10386	1103	39	2		2	NFATC2	20	50139763	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		50139763	12885757	176	20125										
MC3R	4159	genome.wustl.edu	37	chr20	54823970	54823970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ctcggagcacctccaagcccCtttcttcagcaaccagagca	7	17	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr20:54823970C>T	ENST00000243911.2	+	1	183	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	24					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTCCAAGCCCCTTTCTTCAGC	0.567																																																	0													118	115	116					20																	54823970		2203	4300	6503	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.71C>T	20.37:g.54823970C>T	ENSP00000243911:p.Pro24Leu		Q4KN27|Q9H517	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.P24L	ENST00000243911.2	37	c.71	CCDS13449.2	20	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832924	0.16820	.	.	ENSG00000124089	ENST00000243911	T	0.37411	1.2	5.01	1.96	0.26148	.	0.587333	0.14800	N	0.297706	T	0.15176	0.0366	N	0.08118	0	0.09310	N	0.999997	B	0.20887	0.049	B	0.16722	0.016	T	0.26258	-1.0108	10	0.07030	T	0.85	.	8.8753	0.35340	0.0:0.702:0.0:0.298	.	61	P41968	MC3R_HUMAN	L	24	ENSP00000243911:P24L	ENSP00000243911:P24L	P	+	2	0	MC3R	54257377	0.003000	0.15002	0.183000	0.23137	0.419000	0.31324	1.872000	0.39549	1.090000	0.41315	0.650000	0.86243	CCT	MC3R	-	prints_Mcort_3_rcpt		0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	C			54823970	1	no_errors	ENST00000243911	ensembl	human	known	70_37	missense	SNP	0.084	T	T	54823970	C	T	54823970	3	4	130	1	0	0	0	0	1	0	0	0	9388	681	24	4	73	4	MC3R	20	54823970	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	4684207	54823970	8201550	177	20126										
AURKA	116151	genome.wustl.edu	37	chr20	54945266	54945266	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ggcaatttgatggttttgatGaatttgctgtgatccagggg	14	4	0	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr20:54945266G>A	ENST00000371384.3	+	0	3046				AURKA_ENST00000395909.4_Missense_Mutation_p.S387L|AURKA_ENST00000347343.2_Missense_Mutation_p.S387L|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000312783.6_Missense_Mutation_p.S387L|AURKA_ENST00000371356.2_Missense_Mutation_p.S387L|AURKA_ENST00000395914.1_Missense_Mutation_p.S387L|AURKA_ENST00000395911.1_Missense_Mutation_p.S387L|AURKA_ENST00000395913.3_Missense_Mutation_p.S387L|AURKA_ENST00000395915.3_Missense_Mutation_p.S387L	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)		p.S387L(1)									TGGTTTTGATGAATTTGCTGT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											206	179	188					20																	54945266		2203	4300	6503	SO:0001628	intergenic_variant	6790			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945266G>A			B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	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.S387L	ENST00000371384.3	37	c.1160	CCDS13450.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079175	0.76528	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000006	T	0.48642	0.1511	N	0.11845	0.185	0.58432	D	0.999997	B;P;P	0.49635	0.047;0.926;0.722	B;B;B	0.35607	0.026;0.206;0.206	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.4678	19.2213	0.93797	0.0:0.0:1.0:0.0	.	319;387;387	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	L	387	ENSP00000379245:S387L;ENSP00000379250:S387L;ENSP00000216911:S387L;ENSP00000379251:S387L;ENSP00000321591:S387L;ENSP00000360407:S387L;ENSP00000379249:S387L;ENSP00000379247:S387L	ENSP00000321591:S387L	S	-	2	0	AURKA	54378673	1.000000	0.71417	0.159000	0.22649	0.960000	0.62799	8.397000	0.90193	2.615000	0.88500	0.650000	0.86243	TCA	AURKA	-	NULL		0.473	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079800.2	G	NM_080821		54945266	-1	no_errors	ENST00000312783	ensembl	human	known	70_37	missense	SNP	0.975	A	A	54945266	G	A	54945266	1	1	130	0	1	0	0	0	0	0	0	0	1222	1294	45	1		1	AURKA	20	54945266	IGR	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	121296	54945266	8080254	178	20127										
TTC3	7267	genome.wustl.edu	37	chr21	38528979	38528979	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttagatgccacaggaactttCttttctcgttatggagcatc	8	9	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr21:38528979C>G	ENST00000399017.2	+	28	5510	c.2763C>G	c.(2761-2763)ttC>ttG	p.F921L	TTC3_ENST00000355666.1_Missense_Mutation_p.F921L|TTC3_ENST00000354749.2_Missense_Mutation_p.F921L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	921					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGGAACTTTCTTTTCTCGTT	0.348																																					Ovarian(38;194 1649 35661)												0													95	91	93					21																	38528979		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2763C>G	21.37:g.38528979C>G	ENSP00000381981:p.Phe921Leu		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.F921L	ENST00000399017.2	37	c.2763	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.470917|3.470917	0.63625|0.63625	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.34275|.	1.37;1.41;1.45;1.45;1.45|.	5.44|5.44	0.28|0.28	0.15682|0.15682	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.60843|0.60843	0.2300|0.2300	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.70716|.	0.97|.	T|T	0.55341|0.55341	-0.8156|-0.8156	10|5	0.87932|.	D|.	0|.	-27.8639|-27.8639	8.6094|8.6094	0.33793|0.33793	0.0:0.3051:0.0:0.6949|0.0:0.3051:0.0:0.6949	.|.	921|.	P53804|.	TTC3_HUMAN|.	L|C	921;903;921;921;921|59	ENSP00000403943:F921L;ENSP00000391891:F903L;ENSP00000347889:F921L;ENSP00000381981:F921L;ENSP00000346791:F921L|.	ENSP00000346791:F921L|.	F|S	+|+	3|2	2|0	TTC3|TTC3	37450849|37450849	0.968000|0.968000	0.33430|0.33430	0.137000|0.137000	0.22149|0.22149	0.977000|0.977000	0.68977|0.68977	0.312000|0.312000	0.19397|0.19397	-0.112000|-0.112000	0.11979|0.11979	-0.302000|-0.302000	0.09304|0.09304	TTC|TCT	TTC3	-	NULL		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38528979	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	0.681	G	G	38528979	C	G	38528979	3	3	130	1	0	0	0	0	1	0	0	0	16728	912	32	1	2869	1	TTC3	21	38528979	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09		38528979	9600916	179	20128										
TTC3	7267	genome.wustl.edu	37	chr21	38529195	38529195	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	catagtgctttagatgaattCtttgatataatgggtatgtg	10	3	1	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr21:38529195C>G	ENST00000399017.2	+	28	5726	c.2979C>G	c.(2977-2979)ttC>ttG	p.F993L	TTC3_ENST00000355666.1_Missense_Mutation_p.F993L|TTC3_ENST00000354749.2_Missense_Mutation_p.F993L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	993					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F993L(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGATGAATTCTTTGATATAA	0.368																																					Ovarian(38;194 1649 35661)												1	Substitution - Missense(1)	endometrium(1)											80	81	81					21																	38529195		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2979C>G	21.37:g.38529195C>G	ENSP00000381981:p.Phe993Leu		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.F993L	ENST00000399017.2	37	c.2979	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025352|4.025352	0.75390|0.75390	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.18338|.	2.23;2.22;2.48;2.48;2.48|.	5.78|5.78	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.64125|0.64125	0.2570|0.2570	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.76071|.	0.987;0.97|.	T|T	0.60964|0.60964	-0.7158|-0.7158	10|5	0.87932|.	D|.	0|.	-12.8941|-12.8941	10.2477|10.2477	0.43352|0.43352	0.0:0.8572:0.0:0.1428|0.0:0.8572:0.0:0.1428	.|.	51;993|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	L|C	993;975;993;993;993|131	ENSP00000403943:F993L;ENSP00000391891:F975L;ENSP00000347889:F993L;ENSP00000381981:F993L;ENSP00000346791:F993L|.	ENSP00000346791:F993L|.	F|S	+|+	3|2	2|0	TTC3|TTC3	37451065|37451065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.461000|1.461000	0.35255|0.35255	2.890000|2.890000	0.99128|0.99128	0.655000|0.655000	0.94253|0.94253	TTC|TCT	TTC3	-	NULL		0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38529195	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38529195	C	G	38529195	3	3	130	1	0	0	0	0	1	0	0	0	16728	912	32	1	3085	1	TTC3	21	38529195	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	216	38529195	9600700	180	20129										
C21orf57	54059	genome.wustl.edu	37	chr21	47706844	47706844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tgaaatgagtttggtgattaGaaatctgcagcgagtcatcc	11	6	2	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr21:47706844G>C	ENST00000329319.3	+	2	415	c.17G>C	c.(16-18)aGa>aCa	p.R6T	YBEY_ENST00000397692.1_Missense_Mutation_p.R6T|MCM3AP_ENST00000397708.1_5'Flank|YBEY_ENST00000339195.6_Missense_Mutation_p.R6T|YBEY_ENST00000397701.4_Missense_Mutation_p.R6T|YBEY_ENST00000397691.1_Missense_Mutation_p.R6T|YBEY_ENST00000397694.1_Missense_Mutation_p.R6T|MCM3AP_ENST00000291688.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	6					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTGGTGATTAGAAATCTGCAG	0.443																																																	0													72	72	72					21																	47706844		2203	4300	6503	SO:0001583	missense	54059			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 57"	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.17G>C	21.37:g.47706844G>C	ENSP00000329614:p.Arg6Thr		B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd	p.R6T	ENST00000329319.3	37	c.17	CCDS33591.1	21	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762948	0.69763	.	.	ENSG00000182362	ENST00000397701;ENST00000397694;ENST00000329319;ENST00000339195;ENST00000397692;ENST00000397691	.	.	.	5.35	3.53	0.40419	Metalloprotease catalytic domain, predicted (1);	0.127551	0.45361	D	0.000375	T	0.51193	0.1660	M	0.66939	2.045	0.09310	N	1	D;D;D;D;D	0.59767	0.977;0.977;0.977;0.986;0.982	P;P;P;P;P	0.59825	0.787;0.787;0.787;0.815;0.864	T	0.44360	-0.9333	9	0.11182	T	0.66	-8.3169	10.1239	0.42639	0.168:0.0:0.832:0.0	.	6;6;6;6;6	P58557-4;P58557-2;P58557-3;P58557;Q8TBC8	.;.;.;YBEY_HUMAN;.	T	6	.	ENSP00000329614:R6T	R	+	2	0	YBEY	46531272	0.698000	0.27777	0.001000	0.08648	0.828000	0.46876	3.734000	0.55037	0.611000	0.30052	-0.136000	0.14681	AGA	YBEY	-	NULL		0.443	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1	G	NM_058181		47706844	1	no_errors	ENST00000329319	ensembl	human	known	70_37	missense	SNP	0.044	C	C	47706844	G	C	47706844	3	2	130	1	0	0	0	0	1	0	0	0	2133	942	33	1	19	1	C21orf57	21	47706844	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	9177649	47706844	423051	181	20130										
CECR2	27443	genome.wustl.edu	37	chr22	18028884	18028884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttttagacctggacaaccatAacgcagctaccaagcggcag	9	12	0	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:18028884A>G	ENST00000400585.2	+	17	3853	c.3415A>G	c.(3415-3417)Aac>Gac	p.N1139D	CECR2_ENST00000400573.5_Missense_Mutation_p.N1281D|CECR2_ENST00000262608.8_Missense_Mutation_p.N1282D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1323					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGACAACCATAACGCAGCTAC	0.507																																																	0													79	82	81					22																	18028884		1923	4132	6055	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3415A>G	22.37:g.18028884A>G	ENSP00000383428:p.Asn1139Asp		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.N1281D	ENST00000400585.2	37	c.3841		22	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075922	0.55646	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.34472	1.48;1.48;1.36	4.68	4.68	0.58851	.	0.000000	0.52532	D	0.000080	T	0.49864	0.1582	M	0.67953	2.075	0.46167	D	0.998908	D;D;D	0.67145	0.996;0.991;0.996	P;P;P	0.54759	0.76;0.629;0.76	T	0.55897	-0.8068	10	0.87932	D	0	-14.455	13.0027	0.58685	1.0:0.0:0.0:0.0	.	1323;1139;1281	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	1139;1281;1282	ENSP00000383428:N1139D;ENSP00000383417:N1281D;ENSP00000262608:N1282D	ENSP00000262608:N1282D	N	+	1	0	CECR2	16408884	1.000000	0.71417	0.995000	0.50966	0.392000	0.30506	7.344000	0.79328	1.880000	0.54463	0.454000	0.30748	AAC	CECR2	-	NULL		0.507	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	A	NM_031413		18028884	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	18028884	A	G	18028884	3	3	130	1	0	0	0	0	1	0	0	0	3211	362	13	5	3905	5	CECR2	22	18028884	Missense_Mutation	SNP	A	TCGA-FU-A3HY-01A-11D-A21Q-09		18028884	33275682	182	20131										
DEPDC5	9681	genome.wustl.edu	37	chr22	32193604	32193604	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agagtggtggtgcagaatgaGagaagagaagaatggacttc	16	3	0	6			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:32193604G>C	ENST00000382112.3	+	12	856	c.786G>C	c.(784-786)gaG>gaC	p.E262D	DEPDC5_ENST00000535622.1_Missense_Mutation_p.E262D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E262D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000400242.3_Missense_Mutation_p.E262D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E262D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E234D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	262					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCAGAATGAGAGAAGAGAAG	0.418																																																	0													95	93	94					22																	32193604		1888	4116	6004	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.786G>C	22.37:g.32193604G>C	ENSP00000371546:p.Glu262Asp		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E262D	ENST00000382112.3	37	c.786	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502947	0.64298	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.51574	1.24;1.27;0.7;1.63;1.64;1.61;1.24;1.64;1.61;1.64	5.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.77313	2.365	0.80722	D	1	D;D;D;B;D;P	0.76494	0.999;0.998;0.997;0.437;0.999;0.778	D;D;D;P;D;P	0.83275	0.996;0.99;0.992;0.803;0.994;0.498	T	0.63102	-0.6712	10	0.35671	T	0.21	.	8.3207	0.32128	0.2487:0.0:0.7513:0.0	.	262;234;262;262;262;262	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	D	262;234;262;262;262;262;262;262;262;262;262	ENSP00000440210:E262D;ENSP00000441358:E234D;ENSP00000383101:E262D;ENSP00000266091:E262D;ENSP00000383108:E262D;ENSP00000383105:E262D;ENSP00000371539:E262D;ENSP00000371546:E262D;ENSP00000371545:E262D;ENSP00000383107:E262D	ENSP00000266091:E262D	E	+	3	2	DEPDC5	30523604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.858000	0.48356	1.150000	0.42419	0.542000	0.68232	GAG	DEPDC5	-	pfam_DUF3608		0.418	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	G	NM_014662		32193604	1	no_errors	ENST00000266091	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32193604	G	C	32193604	3	2	130	1	0	0	0	0	1	0	0	0	4452	933	33	1	832	1	DEPDC5	22	32193604	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	14164720	32193604	19110962	183	20132										
EP300	2033	genome.wustl.edu	37	chr22	41569751	41569751	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	caatgtatctaacgacctctCacagaaactatatgccacca	4	13	2	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:41569751C>T	ENST00000263253.7	+	29	5961	c.4742C>T	c.(4741-4743)tCa>tTa	p.S1581L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1581	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AACGACCTCTCACAGAAACTA	0.463			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													154	162	159					22																	41569751		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4742C>T	22.37:g.41569751C>T	ENSP00000263253:p.Ser1581Leu		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S1581L	ENST00000263253.7	37	c.4742	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928584	0.92389	.	.	ENSG00000100393	ENST00000263253	D	0.93488	-3.23	5.52	5.52	0.82312	.	0.000000	0.42964	D	0.000628	D	0.97136	0.9064	M	0.86178	2.8	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.97448	1.0026	10	0.72032	D	0.01	-6.037	19.4388	0.94809	0.0:1.0:0.0:0.0	.	1581	Q09472	EP300_HUMAN	L	1581	ENSP00000263253:S1581L	ENSP00000263253:S1581L	S	+	2	0	EP300	39899697	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.734000	0.84928	2.590000	0.87494	0.655000	0.94253	TCA	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.463	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41569751	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41569751	C	T	41569751	3	4	130	1	0	0	0	0	1	0	0	0	5160	838	29	1	4856	1	EP300	22	41569751	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	9376147	41569751	9734815	184	20133										
ZC3H12B	340554	genome.wustl.edu	37	chrX	64709107	64709107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tcacttattaatgatgtattGgcagagcttgtcagacttgg	10	6	2	3			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:64709107G>T	ENST00000338957.4	+	1	493	c.426G>T	c.(424-426)ttG>ttT	p.L142F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L131F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	142							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGATGTATTGGCAGAGCTTG	0.478																																																	0													87	84	85					X																	64709107		1937	4128	6065	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.426G>T	X.37:g.64709107G>T	ENSP00000340839:p.Leu142Phe		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.L142F	ENST00000338957.4	37	c.426	CCDS48131.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.315513|2.315513	0.40996|0.40996	.|.	.|.	ENSG00000102053|ENSG00000102053	ENST00000338957;ENST00000423889|ENST00000218172	T;T|.	0.49720|.	0.77;0.78|.	5.36|5.36	3.58|3.58	0.41010|0.41010	.|.	.|0.653230	.|0.13787	.|N	.|0.362813	T|T	0.62245|0.62245	0.2412|0.2412	M|M	0.73430|0.73430	2.235|2.235	0.40513|0.40513	D|D	0.980759|0.980759	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.53774|0.53774	-0.8391|-0.8391	9|7	0.87932|0.19590	D|T	0|0.45	-21.1108|-21.1108	7.7975|7.7975	0.29156|0.29156	0.2804:0.0:0.7196:0.0|0.2804:0.0:0.7196:0.0	.|.	131|.	Q5HYM0|.	ZC12B_HUMAN|.	F|L	142;131|90	ENSP00000340839:L142F;ENSP00000408077:L131F|.	ENSP00000340839:L142F|ENSP00000218172:W90L	L|W	+|+	3|2	2|0	ZC3H12B|ZC3H12B	64625832|64625832	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.956000|0.956000	0.61745|0.61745	1.119000|1.119000	0.31258|0.31258	0.614000|0.614000	0.30107|0.30107	0.506000|0.506000	0.49869|0.49869	TTG|TGG	ZC3H12B	-	NULL		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	G	XM_293334		64709107	1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	0.997	T	T	64709107	G	T	64709107	3	4	130	1	0	0	0	0	1	0	0	0	17592	1339	47	4	428	4	ZC3H12B	23	64709107	Missense_Mutation	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09		64709107	90561453	185	20134										
HMGN5	79366	genome.wustl.edu	37	chrX	80370360	80370360	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	atctcccttctcttttccatCttcattctcttttccatctc	0	16	6	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:80370360C>T	ENST00000358130.2	-	7	965	c.637G>A	c.(637-639)Gat>Aat	p.D213N	HMGN5_ENST00000491275.1_5'Flank	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	213					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						tcttttccatcttcattctct	0.363																																																	0													285	246	260					X																	80370360		1641	2892	4533	SO:0001583	missense	79366			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.637G>A	X.37:g.80370360C>T	ENSP00000350848:p.Asp213Asn		Q5JSL1	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.D213N	ENST00000358130.2	37	c.637	CCDS14448.1	X	.	.	.	.	.	.	.	.	.	.	C	5.678	0.309666	0.10733	.	.	ENSG00000198157	ENST00000358130;ENST00000447319	.	.	.	3.79	2.89	0.33648	.	0.221845	0.22777	N	0.055773	T	0.30103	0.0754	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.56127	0.792	T	0.07252	-1.0782	9	0.27082	T	0.32	.	8.1158	0.30942	0.0:0.7463:0.2537:0.0	.	213	P82970	HMGN5_HUMAN	N	213;193	.	ENSP00000350848:D213N	D	-	1	0	HMGN5	80257016	0.000000	0.05858	0.007000	0.13788	0.033000	0.12548	-0.914000	0.04038	0.932000	0.37266	0.544000	0.68410	GAT	HMGN5	-	NULL		0.363	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	C	NM_030763		80370360	-1	no_errors	ENST00000358130	ensembl	human	known	70_37	missense	SNP	0.007	T	T	80370360	C	T	80370360	3	4	130	1	0	0	0	0	1	0	0	0	7258	913	32	1	215	1	HMGN5	23	80370360	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	15661253	80370360	74900200	186	20135										
KLHL4	56062	genome.wustl.edu	37	chrX	86890703	86890703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	agttgccacatacaatggatTcttatatgttgtaggggggc	12	6	1	0			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:86890703T>A	ENST00000373119.4	+	9	1998	c.1853T>A	c.(1852-1854)tTc>tAc	p.F618Y	KLHL4_ENST00000373114.4_Missense_Mutation_p.F618Y	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	618						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACAATGGATTCTTATATGTT	0.448																																																	0													115	98	104					X																	86890703		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1853T>A	X.37:g.86890703T>A	ENSP00000362211:p.Phe618Tyr		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F618Y	ENST00000373119.4	37	c.1853	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	T	9.711	1.157066	0.21454	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74315	-0.83;-0.83	4.23	2.89	0.33648	Galactose oxidase, beta-propeller (1);	0.260161	0.37715	N	0.001969	T	0.49898	0.1584	N	0.10945	0.07	0.39418	D	0.966863	B;B	0.12013	0.001;0.005	B;B	0.17722	0.019;0.012	T	0.27054	-1.0085	10	0.12103	T	0.63	.	8.1651	0.31222	0.2285:0.0:0.0:0.7715	.	618;618	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Y	618	ENSP00000362211:F618Y;ENSP00000362206:F618Y	ENSP00000362206:F618Y	F	+	2	0	KLHL4	86777359	1.000000	0.71417	0.927000	0.36925	0.475000	0.33008	4.498000	0.60373	0.476000	0.27440	0.417000	0.27973	TTC	KLHL4	-	pfam_Kelch_1,smart_Kelch_1		0.448	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	T			86890703	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86890703	T	A	86890703	3	1	130	1	0	0	0	0	1	0	0	0	8411	1783	62	5	1887	5	KLHL4	23	86890703	Missense_Mutation	SNP	T	TCGA-FU-A3HY-01A-11D-A21Q-09	6520343	86890703	68379857	187	20136										
MID2	11043	genome.wustl.edu	37	chrX	107084146	107084146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	tacctgcaggtatgttatctCgctgaaccaccggggcctgg	12	12	1	1			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:107084146C>G	ENST00000262843.6	+	2	799	c.251C>G	c.(250-252)tCg>tGg	p.S84W	MID2_ENST00000443968.2_Missense_Mutation_p.S84W	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	84					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TATGTTATCTCGCTGAACCAC	0.512																																																	0													127	106	113					X																	107084146		2203	4300	6503	SO:0001583	missense	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.251C>G	X.37:g.107084146C>G	ENSP00000262843:p.Ser84Trp		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S84W	ENST00000262843.6	37	c.251	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789290	0.70337	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.19105	2.17;2.17;2.17	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);	0.188583	0.48286	D	0.000194	T	0.39064	0.1064	L	0.45137	1.4	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.67382	0.951;0.85	T	0.07158	-1.0787	10	0.66056	D	0.02	.	16.511	0.84284	0.0:1.0:0.0:0.0	.	84;84	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	W	64;84;84	ENSP00000410730:S64W;ENSP00000262843:S84W;ENSP00000413976:S84W	ENSP00000262843:S84W	S	+	2	0	MID2	106970802	1.000000	0.71417	0.955000	0.39395	0.911000	0.54048	7.818000	0.86416	2.506000	0.84524	0.600000	0.82982	TCG	MID2	-	NULL		0.512	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	C	NM_012216		107084146	1	no_errors	ENST00000262843	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107084146	C	G	107084146	3	3	130	1	0	0	0	0	1	0	0	0	9601	893	31	1	257	1	MID2	23	107084146	Missense_Mutation	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	20193443	107084146	48186414	188	20137										
PLS3	5358	genome.wustl.edu	37	chrX	114880847	114880847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	ttagctttagtctggcagctGatgagaaggtatagtacaca	11	6	1	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:114880847G>A	ENST00000420625.2	+	13	1637	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	PLS3_ENST00000537301.1_Silent_p.L488L|PLS3_ENST00000355899.3_Silent_p.L501L|PLS3_ENST00000539310.1_Silent_p.L456L|PLS3_ENST00000543070.1_Silent_p.L95L|PLS3_ENST00000289290.3_Silent_p.L465L	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	501	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGCAGCTGATGAGAAGGT	0.403																																					Colon(160;1047 1864 8490 12969 29601)												0													145	121	129					X																	114880847		2203	4300	6503	SO:0001819	synonymous_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1503G>A	X.37:g.114880847G>A			A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.L501	ENST00000420625.2	37	c.1503	CCDS14568.1	X																																																																																			PLS3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.403	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	G			114880847	1	no_errors	ENST00000355899	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114880847	G	A	114880847	2	1	130	1	0	0	0	0	0	0	0	1	12132	1277	45	1		1	PLS3	23	114880847	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	7796701	114880847	40389713	189	20138										
RBMX2	51634	genome.wustl.edu	37	chrX	129546420	129546420	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	caaccatcctcttcgtcaccCagacgcaagacagtaaagga	7	14	2	2			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:129546420C>A	ENST00000305536.6	+	6	631	c.567C>A	c.(565-567)ccC>ccA	p.P189P		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	189	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTTCGTCACCCAGACGCAAGA	0.478																																																	0													54	55	55					X																	129546420		1954	4125	6079	SO:0001819	synonymous_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.567C>A	X.37:g.129546420C>A			A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P189	ENST00000305536.6	37	c.567	CCDS43993.1	X																																																																																			RBMX2	-	NULL		0.478	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	C	NM_016024		129546420	1	no_errors	ENST00000305536	ensembl	human	known	70_37	silent	SNP	0.277	A	A	129546420	C	A	129546420	2	1	130	1	0	0	0	0	0	0	0	1	13182	581	21	4		4	RBMX2	23	129546420	Silent	SNP	C	TCGA-FU-A3HY-01A-11D-A21Q-09	14665573	129546420	25724140	190	20139										
MAGEA6	4105	genome.wustl.edu	37	chrX	151869985	151869985	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.573684210526316	109	9.98377239658801e-46	4.27675011304312	5.39265536723164	3.6183660130719	0.426399599310152	0.667109050533625	84	gagaaaatctgggaggagctGagtgtgttagaggtgtttga	17	2	1	4			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:151869985G>A	ENST00000329342.5	+	3	900	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	225	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGAGCTGAGTGTGTTAG	0.507																																																	0													158	154	156					X																	151869985		2202	4298	6500	SO:0001819	synonymous_variant	4105				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.675G>A	X.37:g.151869985G>A			A8IF93|Q6NW44	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L225	ENST00000329342.5	37	c.675	CCDS14708.1	X																																																																																			MAGEA6	-	pfam_MAGE,pfscan_MAGE		0.507	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	G	NM_005363		151869985	1	no_errors	ENST00000329342	ensembl	human	known	70_37	silent	SNP	0.046	A	A	151869985	G	A	151869985	2	1	130	1	0	0	0	0	0	0	0	1	9193	1277	45	1		1	MAGEA6	23	151869985	Silent	SNP	G	TCGA-FU-A3HY-01A-11D-A21Q-09	22323565	151869985	3400575	191	20140										
AGRN	375790	genome.wustl.edu	37	chr1	979321	979321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcagcgacggtgtcacctaCggcagtgcctgcgagctacg	15	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:979321C>T	ENST00000379370.2	+	10	1967	c.1917C>T	c.(1915-1917)taC>taT	p.Y639Y		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	639	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTCACCTACGGCAGTGCCT	0.706																																																	0													14	18	17					1																	979321		2189	4288	6477	SO:0001819	synonymous_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1917C>T	1.37:g.979321C>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.Y639	ENST00000379370.2	37	c.1917	CCDS30551.1	1																																																																																			AGRN	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_Prot_inh_Kazal		0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	C	NM_198576		979321	1	no_errors	ENST00000379370	ensembl	human	known	70_37	silent	SNP	0.300	T	T	979321	C	T	979321	2	4	131	1	0	0	0	0	0	0	0	1	397	547	19	2		2	AGRN	1	979321	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		979321	248271300	1	20141										
GABRD	2563	genome.wustl.edu	37	chr1	1956825	1956825	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtggccagcatcgaccacatCtcagaggccaacatggtagg	12	12	1	1	rs576565752		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGACCACATCTCAGAGGCCA	0.652																																																	0													64	67	66					1																	1956825		2203	4300	6503	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.234C>A	1.37:g.1956825C>A			Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I78	ENST00000378585.4	37	c.234	CCDS36.1	1																																																																																			GABRD	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1956825	1	no_errors	ENST00000378585	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1956825	C	A	1956825	2	1	131	1	0	0	0	0	0	0	0	1	6187	903	32	3		3	GABRD	1	1956825	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	977504	1956825	247293796	2	20142										
PRDM16	63976	genome.wustl.edu	37	chr1	3313156	3313156	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagtgccgcccggcctggaCggtaagacccctcccccaaa	10	18	0	1	rs535076398		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:3313156C>T	ENST00000270722.5	+	5	724	c.675C>T	c.(673-675)gaC>gaT	p.D225D	PRDM16_ENST00000378391.2_Splice_Site_p.D225D|PRDM16_ENST00000378398.3_Splice_Site_p.D226D|PRDM16_ENST00000441472.2_Splice_Site_p.D225D|PRDM16_ENST00000511072.1_Splice_Site_p.D226D|PRDM16_ENST00000442529.2_Splice_Site_p.D225D|PRDM16_ENST00000514189.1_Splice_Site_p.D226D|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	225					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D225D(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGGCCTGGACGGTAAGACCC	0.642			T	EVI1	"MDS, AML"								C|||	1	0.000199681	0	0.0014	5008	,	,		14665	0		0	False		,,,				2504	0							Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - coding silent(1)	large_intestine(1)											30	34	33					1																	3313156		1976	4149	6125	SO:0001630	splice_region_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.676+1C>T	1.37:g.3313156C>T			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D225	ENST00000270722.5	37	c.675	CCDS41236.2	1																																																																																			PRDM16	-	NULL		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	C	NM_022114	Silent	3313156	1	no_errors	ENST00000270722	ensembl	human	known	70_37	silent	SNP	0.987	T	T	3313156	C	T	3313156	5	4	131	1	0	0	0	0	0	0	1	0	12484	550	19	2	693	2	PRDM16	1	3313156	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1356331	3313156	245937465	3	20143										
PER3	8863	genome.wustl.edu	37	chr1	7880210	7880210	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caacattccagctttgaaaaGaaagtgtatctcctgtacaa	6	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:7880210G>T	ENST00000361923.2	+	14	1845	c.1670G>T	c.(1669-1671)aGa>aTa	p.R557I	PER3_ENST00000377532.3_Missense_Mutation_p.R565I|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	557	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTGAAAAGAAAGTGTATC	0.403																																																	0													130	120	123					1																	7880210		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1670G>T	1.37:g.7880210G>T	ENSP00000355031:p.Arg557Ile		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.R557I	ENST00000361923.2	37	c.1670	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915617	0.73098	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.23754	1.98;1.89	4.17	3.26	0.37387	.	0.631743	0.13784	N	0.363011	T	0.56848	0.2013	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;0.999;1.0;0.997	T	0.62120	-0.6921	10	0.87932	D	0	.	11.4206	0.49978	0.0878:0.0:0.9122:0.0	.	557;565;565;557	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	565;557	ENSP00000366755:R565I;ENSP00000355031:R557I	ENSP00000355031:R557I	R	+	2	0	PER3	7802797	1.000000	0.71417	0.542000	0.28115	0.950000	0.60333	6.610000	0.74178	1.114000	0.41781	0.650000	0.86243	AGA	PER3	-	NULL		0.403	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7880210	1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.995	T	T	7880210	G	T	7880210	3	4	131	1	0	0	0	0	1	0	0	0	11755	942	33	3	1724	3	PER3	1	7880210	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4567054	7880210	241370411	4	20144										
PER3	8863	genome.wustl.edu	37	chr1	7897130	7897130	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagcagcagccccagttttCtcatgggcaaaaggaggagc	13	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:7897130C>A	ENST00000361923.2	+	20	3618	c.3443C>A	c.(3442-3444)tCt>tAt	p.S1148Y	PER3_ENST00000377532.3_Missense_Mutation_p.S1157Y	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1148	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGTTTTCTCATGGGCAA	0.403																																																	0													65	62	63					1																	7897130		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3443C>A	1.37:g.7897130C>A	ENSP00000355031:p.Ser1148Tyr		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.S1148Y	ENST00000361923.2	37	c.3443	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139752	0.56936	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.18502	2.21;2.21	4.26	4.26	0.50523	Period circadian-like, C-terminal (1);	0.425026	0.22718	N	0.056499	T	0.36468	0.0968	L	0.52011	1.625	0.37317	D	0.909382	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.992;0.982;0.981	T	0.40403	-0.9565	10	0.87932	D	0	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	197;1157;1148	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	Y	1157;1148;341	ENSP00000366755:S1157Y;ENSP00000355031:S1148Y	ENSP00000355031:S1148Y	S	+	2	0	PER3	7819717	0.641000	0.27251	0.708000	0.30435	0.795000	0.44927	2.588000	0.46137	2.203000	0.70933	0.460000	0.39030	TCT	PER3	-	pfam_Period_circadian-like_C		0.403	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	C	NM_016831		7897130	1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.946	A	A	7897130	C	A	7897130	3	1	131	1	0	0	0	0	1	0	0	0	11755	913	32	3	3521	3	PER3	1	7897130	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	16920	7897130	241353491	5	20145										
ERRFI1	54206	genome.wustl.edu	37	chr1	8073301	8073301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccacataggataaatgtttaCgcttcacgtggccacccaga	8	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:8073301C>T	ENST00000377482.5	-	4	1581	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	453					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TAAATGTTTACGCTTCACGTG	0.453																																																	0													139	126	131					1																	8073301		2203	4300	6503	SO:0001583	missense	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1358G>A	1.37:g.8073301C>T	ENSP00000366702:p.Arg453His		B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	pfam_GTPase_binding,pfam_Inhibitor_Mig-6	p.R453H	ENST00000377482.5	37	c.1358	CCDS94.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768626	0.69878	.	.	ENSG00000116285	ENST00000377482	T	0.20463	2.07	5.22	5.22	0.72569	.	0.083826	0.46442	D	0.000293	T	0.18593	0.0446	M	0.63428	1.95	0.80722	D	1	P	0.39250	0.665	B	0.24541	0.054	T	0.03818	-1.1001	10	0.87932	D	0	-19.1502	11.39	0.49809	0.0:0.9187:0.0:0.0813	.	453	Q9UJM3	ERRFI_HUMAN	H	453	ENSP00000366702:R453H	ENSP00000366702:R453H	R	-	2	0	ERRFI1	7995888	0.805000	0.28982	0.999000	0.59377	0.546000	0.35178	1.274000	0.33132	2.708000	0.92522	0.650000	0.86243	CGT	ERRFI1	-	NULL		0.453	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERRFI1	HGNC	protein_coding	OTTHUMT00000003617.1	C	NM_018948		8073301	-1	no_errors	ENST00000377482	ensembl	human	known	70_37	missense	SNP	0.999	T	T	8073301	C	T	8073301	3	4	131	1	0	0	0	0	1	0	0	0	5256	536	19	2	34	2	ERRFI1	1	8073301	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	176171	8073301	241177320	6	20146										
KIF1B	23095	genome.wustl.edu	37	chr1	10327452	10327452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcataggtgagctacatggaAatttactgtgaaagagtacg	11	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:10327452A>C	ENST00000377086.1	+	6	646	c.444A>C	c.(442-444)gaA>gaC	p.E148D	KIF1B_ENST00000263934.6_Missense_Mutation_p.E148D|KIF1B_ENST00000377093.4_Missense_Mutation_p.E148D|KIF1B_ENST00000377083.1_Missense_Mutation_p.E148D|KIF1B_ENST00000377081.1_Missense_Mutation_p.E148D			O60333	KIF1B_HUMAN	kinesin family member 1B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTACATGGAAATTTACTGTG	0.438																																																	0													76	72	73					1																	10327452		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.444A>C	1.37:g.10327452A>C	ENSP00000366290:p.Glu148Asp		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E148D	ENST00000377086.1	37	c.444		1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316651	0.81469	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.62	4.49	0.54785	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	H	0.99197	4.465	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.992;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.971;0.999	D	0.95404	0.8492	10	0.87932	D	0	.	9.4002	0.38428	0.844:0.0:0.156:0.0	.	148;148;148;148;148;148;148	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	D	148	ENSP00000263934:E148D;ENSP00000366297:E148D;ENSP00000366290:E148D;ENSP00000366287:E148D;ENSP00000366284:E148D	ENSP00000263934:E148D	E	+	3	2	KIF1B	10250039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.049000	0.57397	1.067000	0.40740	0.477000	0.44152	GAA	KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.438	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	A			10327452	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10327452	A	C	10327452	3	2	131	1	0	0	0	0	1	0	0	0	8304	11	1	5	462	5	KIF1B	1	10327452	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2254151	10327452	238923169	7	20147										
PGD	5226	genome.wustl.edu	37	chr1	10460491	10460491	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtctccaaagttgatgatttCttggccaatgaggcaaaggg	12	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:10460491C>A	ENST00000270776.8	+	3	164	c.126C>A	c.(124-126)ttC>ttA	p.F42L	PGD_ENST00000541529.1_Missense_Mutation_p.F42L|PGD_ENST00000538557.1_Missense_Mutation_p.F29L	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	42					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	TTGATGATTTCTTGGCCAATG	0.502																																																	0													118	110	112					1																	10460491		2203	4300	6503	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.126C>A	1.37:g.10460491C>A	ENSP00000270776:p.Phe42Leu		A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.F42L	ENST00000270776.8	37	c.126	CCDS113.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.889099|4.889099	0.91814|0.91814	.|.	.|.	ENSG00000142657|ENSG00000142657	ENST00000541529;ENST00000270776;ENST00000538557|ENST00000543846	T;T;T|.	0.39406|.	1.1;1.14;1.08|.	5.18|5.18	4.23|4.23	0.50019|0.50019	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55545|0.55545	0.1927|0.1927	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	T|T	0.59215|0.59215	-0.7496|-0.7496	10|6	0.59425|0.87932	D|D	0.04|0	-30.9907|-30.9907	10.938|10.938	0.47257|0.47257	0.0:0.7969:0.1307:0.0725|0.0:0.7969:0.1307:0.0725	.|.	42;42|.	F5H7U0;P52209|.	.;6PGD_HUMAN|.	L|Y	42;42;29|20	ENSP00000442285:F42L;ENSP00000270776:F42L;ENSP00000437822:F29L|.	ENSP00000270776:F42L|ENSP00000438783:S20Y	F|S	+|+	3|2	2|0	PGD|PGD	10383078|10383078	1.000000|1.000000	0.71417|0.71417	0.725000|0.725000	0.30721|0.30721	0.987000|0.987000	0.75469|0.75469	2.511000|2.511000	0.45476|0.45476	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	TTC|TCT	PGD	-	pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox		0.502	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1	C	NM_002631		10460491	1	no_errors	ENST00000270776	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10460491	C	A	10460491	3	1	131	1	0	0	0	0	1	0	0	0	11811	912	32	3	136	3	PGD	1	10460491	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	133039	10460491	238790130	8	20148										
MTOR	2475	genome.wustl.edu	37	chr1	11184573	11184573	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acctgaggtttttccgaagaGatgttgggtcattggccaga	13	7	1	3	rs587777894		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:11184573G>T	ENST00000361445.4	-	47	6720	c.6644C>A	c.(6643-6645)tCt>tAt	p.S2215Y	MTOR_ENST00000376838.1_Missense_Mutation_p.S420Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																																	4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)											101	98	99					1																	11184573		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>A	1.37:g.11184573G>T	ENSP00000354558:p.Ser2215Tyr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2215Y	ENST00000361445.4	37	c.6644	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903707	0.92035	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	D	0.90182	0.4243	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	Y	2215;420	ENSP00000354558:S2215Y;ENSP00000366034:S420Y	ENSP00000354558:S2215Y	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11184573	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11184573	G	T	11184573	3	4	131	1	0	0	0	0	1	0	0	0	9977	942	33	3	1053	3	MTOR	1	11184573	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	724082	11184573	238066048	9	20149										
PTCHD2	57540	genome.wustl.edu	37	chr1	11561252	11561252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtaccctgggctgggcctTcaccaatccgtgctgtgctg	13	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:11561252T>C	ENST00000294484.6	+	2	341	c.203T>C	c.(202-204)tTc>tCc	p.F68S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.F68S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	68					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCTGGGCCTTCACCAATCCG	0.652																																																	0													68	71	70					1																	11561252		2058	4182	6240	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.203T>C	1.37:g.11561252T>C	ENSP00000294484:p.Phe68Ser		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.F68S	ENST00000294484.6	37	c.203	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229382	0.79688	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.91	5.91	0.95273	.	0.072305	0.56097	U	0.000026	T	0.32585	0.0834	N	0.24115	0.695	0.51012	D	0.999905	D	0.64830	0.994	P	0.56278	0.795	T	0.09596	-1.0667	10	0.87932	D	0	-31.4901	15.5295	0.75942	0.0:0.0:0.0:1.0	.	68	Q9P2K9	PTHD2_HUMAN	S	68	ENSP00000294484:F68S;ENSP00000374226:F68S	ENSP00000294484:F68S	F	+	2	0	PTCHD2	11483839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.761000	0.68801	2.254000	0.74563	0.533000	0.62120	TTC	PTCHD2	-	NULL		0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	T	XM_052561		11561252	1	no_errors	ENST00000294484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11561252	T	C	11561252	3	2	131	1	0	0	0	0	1	0	0	0	12760	1783	62	5	205	5	PTCHD2	1	11561252	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	376679	11561252	237689369	10	20150										
CLCN6	1185	genome.wustl.edu	37	chr1	11867239	11867239	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgagattcttccaaggaaaGactatgaggtgagctccttt	10	7	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:11867239G>T	ENST00000346436.6	+	2	191	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	CLCN6_ENST00000376497.3_Missense_Mutation_p.D47Y|CLCN6_ENST00000376492.3_3'UTR|MTHFR_ENST00000376590.3_5'Flank|CLCN6_ENST00000376487.3_Missense_Mutation_p.D47Y|CLCN6_ENST00000312413.6_Missense_Mutation_p.D47Y|MTHFR_ENST00000376585.1_5'Flank|CLCN6_ENST00000376496.3_Missense_Mutation_p.D47Y	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	47					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAAGGAAAGACTATGAGGT	0.478																																																	0													102	92	95					1																	11867239		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.139G>T	1.37:g.11867239G>T	ENSP00000234488:p.Asp47Tyr		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.D47Y	ENST00000346436.6	37	c.139	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654412	0.88056	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;T;D;D	0.92805	-3.11;-2.9;-1.28;-3.01;-2.9	4.88	4.88	0.63580	.	0.089033	0.85682	D	0.000000	D	0.93851	0.8033	L	0.51422	1.61	0.80722	D	1	P;D;D;D;P;P	0.64830	0.498;0.983;0.994;0.994;0.684;0.614	B;P;P;P;P;B	0.61533	0.347;0.822;0.89;0.89;0.481;0.36	D	0.94481	0.7693	10	0.87932	D	0	-34.243	15.5379	0.76018	0.0:0.0:1.0:0.0	.	47;47;47;47;47;47	F8W9R3;P51797-3;P51797-4;P51797-2;P51797-5;P51797	.;.;.;.;.;CLCN6_HUMAN	Y	47	ENSP00000308367:D47Y;ENSP00000234488:D47Y;ENSP00000365680:D47Y;ENSP00000365670:D47Y;ENSP00000365679:D47Y	ENSP00000308367:D47Y	D	+	1	0	CLCN6	11789826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.858000	0.86971	2.412000	0.81896	0.563000	0.77884	GAC	CLCN6	-	NULL		0.478	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11867239	1	no_errors	ENST00000346436	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11867239	G	T	11867239	3	4	131	1	0	0	0	0	1	0	0	0	3472	942	33	3	145	3	CLCN6	1	11867239	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	305987	11867239	237383382	11	20151										
TNFRSF1B	7133	genome.wustl.edu	37	chr1	12267024	12267024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaccctgctggggagcaccGaagagaagcccctgcccctt	12	15	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:12267024G>A	ENST00000376259.3	+	10	1422	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	445					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GGGGAGCACCGAAGAGAAGCC	0.642																																																	0													97	96	96					1																	12267024		2203	4300	6503	SO:0001583	missense	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1333G>A	1.37:g.12267024G>A	ENSP00000365435:p.Glu445Lys		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.E445K	ENST00000376259.3	37	c.1333	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	G	9.230	1.035500	0.19590	.	.	ENSG00000028137	ENST00000376259	D	0.88664	-2.41	3.92	3.92	0.45320	.	7.892620	0.00610	U	0.000409	D	0.86806	0.6021	L	0.60455	1.87	0.41381	D	0.987554	P	0.43352	0.804	B	0.30495	0.116	T	0.78671	-0.2113	10	0.56958	D	0.05	-3.7031	11.7713	0.51960	0.0:0.0:1.0:0.0	.	445	P20333	TNR1B_HUMAN	K	445	ENSP00000365435:E445K	ENSP00000365435:E445K	E	+	1	0	TNFRSF1B	12189611	0.981000	0.34729	0.003000	0.11579	0.008000	0.06430	3.468000	0.53086	1.886000	0.54624	0.561000	0.74099	GAA	TNFRSF1B	-	NULL		0.642	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	G	NM_001066		12267024	1	no_errors	ENST00000376259	ensembl	human	known	70_37	missense	SNP	0.008	A	A	12267024	G	A	12267024	3	1	131	1	0	0	0	0	1	0	0	0	16324	1059	37	1	1371	1	TNFRSF1B	1	12267024	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	399785	12267024	236983597	12	20152										
SPEN	23013	genome.wustl.edu	37	chr1	16245496	16245496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgatattgctagcgtttgtAaagctattaagaagatggat	11	3	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:16245496A>C	ENST00000375759.3	+	7	1675	c.1471A>C	c.(1471-1473)Aaa>Caa	p.K491Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	491	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAGCGTTTGTAAAGCTATTAA	0.323																																																	0													112	111	111					1																	16245496		2203	4299	6502	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1471A>C	1.37:g.16245496A>C	ENSP00000364912:p.Lys491Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.K491Q	ENST00000375759.3	37	c.1471	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600617	0.87055	.	.	ENSG00000065526	ENST00000375759	T	0.20332	2.08	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.38506	0.1043	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14144	-1.0483	9	0.72032	D	0.01	-8.4818	16.2995	0.82801	1.0:0.0:0.0:0.0	.	491	Q96T58	MINT_HUMAN	Q	491	ENSP00000364912:K491Q	ENSP00000364912:K491Q	K	+	1	0	SPEN	16118083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.278000	0.95766	2.241000	0.73720	0.451000	0.29950	AAA	SPEN	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.323	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	A	NM_015001		16245496	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16245496	A	C	16245496	3	2	131	1	0	0	0	0	1	0	0	0	15068	363	13	5	1497	5	SPEN	1	16245496	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3978472	16245496	233005125	13	20153										
ACTL8	81569	genome.wustl.edu	37	chr1	18153014	18153014	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgagcatatgaggatgtgAccctactggctcactcctga	12	10	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:18153014A>G	ENST00000375406.1	+	3	1317	c.1101A>G	c.(1099-1101)tgA>tgG	p.*367W		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	0					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TGAGGATGTGACCCTACTGGC	0.532											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	47	46					1																	18153014		2155	4254	6409	SO:0001578	stop_lost	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.1101A>G	1.37:g.18153014A>G	ENSP00000364555:p.*367Trpext*30	723	Q13104|Q96M75	Nonstop_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.*367W	ENST00000375406.1	37	c.1101	CCDS183.1	1	.	.	.	.	.	.	.	.	.	.	A	8.023	0.759990	0.15846	.	.	ENSG00000117148	ENST00000375406	.	.	.	4.74	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2391	0.10640	0.7234:0.0:0.0994:0.1771	.	.	.	.	W	367	.	.	X	+	3	0	ACTL8	18025601	0.111000	0.22076	0.012000	0.15200	0.078000	0.17371	1.094000	0.30951	0.326000	0.23384	0.533000	0.62120	TGA	ACTL8	-	NULL		0.532	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1	A	NM_030812		18153014	1	no_errors	ENST00000375406	ensembl	human	known	70_37	nonstop	SNP	0.022	G	G	18153014	A	G	18153014	4	3	131	1	0	0	0	0	0	0	0	0	202	288	10	5	1107	5	ACTL8	1	18153014	Nonstop_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1907518	18153014	231097607	14	20154										
EIF4G3	8672	genome.wustl.edu	37	chr1	21296060	21296060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctcctctgttatgtctttAcctccctggtttggatcccg	7	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:21296060A>G	ENST00000264211.8	-	6	647	c.453T>C	c.(451-453)ggT>ggC	p.G151G	EIF4G3_ENST00000400422.1_Silent_p.G151G|EIF4G3_ENST00000374927.4_Silent_p.G151G|EIF4G3_ENST00000602326.1_Silent_p.G158G|EIF4G3_ENST00000374935.3_Silent_p.G151G|EIF4G3_ENST00000374937.3_Silent_p.G158G|EIF4G3_ENST00000356916.3_Silent_p.G162G|EIF4G3_ENST00000536266.1_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	151	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTATGTCTTTACCTCCCTGGT	0.423																																																	0													137	124	128					1																	21296060		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.453T>C	1.37:g.21296060A>G			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.G158	ENST00000264211.8	37	c.474	CCDS214.1	1																																																																																			EIF4G3	-	NULL		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	A	NM_003760		21296060	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	silent	SNP	1.000	G	G	21296060	A	G	21296060	2	3	131	1	0	0	0	0	0	0	0	1	5050	378	14	5		5	EIF4G3	1	21296060	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3143046	21296060	227954561	15	20155										
ASAP3	55616	genome.wustl.edu	37	chr1	23765253	23765253	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cactcacgggtcaccaggtcGaagcactttttctcctcagg	9	14	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:23765253G>A	ENST00000336689.3	-	12	1133	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	ASAP3_ENST00000437606.2_Silent_p.F354F|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	363	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCACCAGGTCGAAGCACTTTT	0.612																																																	0													96	94	95					1																	23765253		2203	4300	6503	SO:0001819	synonymous_variant	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1089C>T	1.37:g.23765253G>A			B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.F363	ENST00000336689.3	37	c.1089	CCDS235.1	1																																																																																			ASAP3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.612	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	G	NM_017707		23765253	-1	no_errors	ENST00000336689	ensembl	human	known	70_37	silent	SNP	0.995	A	A	23765253	G	A	23765253	2	1	131	1	0	0	0	0	0	0	0	1	1013	1049	37	1		1	ASAP3	1	23765253	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2469193	23765253	225485368	16	20156										
RPL11	6135	genome.wustl.edu	37	chr1	24022863	24022863	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcatccttcctggcaaataAattcccgtttctatccaaaa	3	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:24022863A>C	ENST00000374550.3	+	6	582	c.537A>C	c.(535-537)taA>taC	p.*179Y	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGGCAAATAAATTCCCGTTT	0.383																																																	0													79	76	77					1																	24022863		2203	4300	6503	SO:0001578	stop_lost	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.537A>C	1.37:g.24022863A>C	ENSP00000363676:p.*179Tyrext*?		P25121|P39026|Q8TDH2|Q9Y674	Nonstop_Mutation	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.*179Y	ENST00000374550.3	37	c.537	CCDS238.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991807	0.74703	.	.	ENSG00000142676	ENST00000374550	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0063	0.80363	1.0:0.0:0.0:0.0	.	.	.	.	Y	179	.	.	X	+	3	2	RPL11	23895450	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.672000	0.74477	2.194000	0.70268	0.528000	0.53228	TAA	RPL11	-	NULL		0.383	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	A	NM_000975		24022863	1	no_errors	ENST00000374550	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	24022863	A	C	24022863	4	2	131	1	0	0	0	0	0	0	0	0	13587	21	1	5	559	5	RPL11	1	24022863	Nonstop_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	257610	24022863	225227758	17	20157										
IL28RA	163702	genome.wustl.edu	37	chr1	24495963	24495963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggggacttggagctgggaGaaaccgtccgcacgcgtccc	16	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:24495963G>A	ENST00000327535.1	-	3	323	c.311C>T	c.(310-312)tCt>tTt	p.S104F	IFNLR1_ENST00000374421.3_Missense_Mutation_p.S104F|IFNLR1_ENST00000327575.2_Missense_Mutation_p.S104F|IFNLR1_ENST00000374419.1_Missense_Mutation_p.S21F|IFNLR1_ENST00000374418.3_Missense_Mutation_p.S104F	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	104	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GGAGCTGGGAGAAACCGTCCG	0.537																																																	0													97	91	93					1																	24495963		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.311C>T	1.37:g.24495963G>A	ENSP00000327824:p.Ser104Phe		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S104F	ENST00000327535.1	37	c.311	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146633	0.37923	.	.	ENSG00000185436	ENST00000327535;ENST00000327575;ENST00000374421;ENST00000374419;ENST00000374418	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.41	3.43	0.39272	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.858279	0.10509	N	0.666373	T	0.78298	0.4261	L	0.39633	1.23	0.09310	N	1	P;D;D;D	0.89917	0.951;0.963;0.982;1.0	P;P;P;D	0.74348	0.578;0.539;0.786;0.983	T	0.64118	-0.6482	10	0.42905	T	0.14	-17.7859	7.8575	0.29491	0.0921:0.1661:0.7418:0.0	.	104;104;104;104	Q8IU57-3;Q8IV66;Q8IU57;Q8IU57-2	.;.;I28RA_HUMAN;.	F	104;104;104;21;104	ENSP00000327824:S104F;ENSP00000328994:S104F;ENSP00000363542:S104F;ENSP00000363539:S104F	ENSP00000327824:S104F	S	-	2	0	IL28RA	24368550	0.007000	0.16637	0.079000	0.20413	0.009000	0.06853	1.390000	0.34464	2.532000	0.85374	0.655000	0.94253	TCT	IL28RA	-	superfamily_Fibronectin_type3		0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	G	NM_170743		24495963	-1	no_errors	ENST00000327535	ensembl	human	known	70_37	missense	SNP	0.002	A	A	24495963	G	A	24495963	3	1	131	1	0	0	0	0	1	0	0	0	7704	942	33	1	1271	1	IL28RA	1	24495963	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	473100	24495963	224754658	18	20158										
RHD	6007	genome.wustl.edu	37	chr1	25599101	25599101	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctgggccctaacactggaAgcagctctcattctcctctt	7	15	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:25599101A>C	ENST00000328664.4	+	1	218	c.63A>C	c.(61-63)gaA>gaC	p.E21D	RHD_ENST00000342055.5_Missense_Mutation_p.E21D|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.E21D|RHD_ENST00000357542.4_Missense_Mutation_p.E21D|RHD_ENST00000417538.2_Missense_Mutation_p.E21D|RHD_ENST00000423810.2_Missense_Mutation_p.E21D|RHD_ENST00000568195.1_Missense_Mutation_p.E21D	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	21						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAACACTGGAAGCAGCTCTCA	0.547																																																	0													103	81	89					1																	25599101		2201	4298	6499	SO:0001583	missense	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.63A>C	1.37:g.25599101A>C	ENSP00000331871:p.Glu21Asp		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.E21D	ENST00000328664.4	37	c.63	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	a	16.20	3.056095	0.55325	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	3.33	-0.547	0.11836	Ammonium transporter AmtB-like (1);	0.198258	0.42682	D	0.000670	T	0.47746	0.1462	M	0.88105	2.93	0.09310	N	1	D;D;D;D;D;P;D;D	0.65815	0.995;0.99;0.992;0.995;0.985;0.853;0.995;0.973	D;D;D;D;P;P;D;D	0.76575	0.957;0.977;0.987;0.957;0.903;0.589;0.988;0.947	T	0.28332	-1.0047	10	0.66056	D	0.02	-14.3394	5.2599	0.15567	0.5667:0.0:0.4333:0.0	.	21;21;21;21;21;21;21;21	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	D	21	ENSP00000331871:E21D;ENSP00000413849:E21D;ENSP00000339577:E21D;ENSP00000350150:E21D;ENSP00000396420:E21D;ENSP00000399640:E21D	ENSP00000331871:E21D	E	+	3	2	RHD	25471688	0.912000	0.30974	0.001000	0.08648	0.312000	0.27988	1.717000	0.37991	0.068000	0.16574	-0.446000	0.05623	GAA	RHD	-	pfam_NH4_transpt_AmtB-like,prints_RhesusRHD		0.547	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	A	NM_016124		25599101	1	no_errors	ENST00000328664	ensembl	human	known	70_37	missense	SNP	0.002	C	C	25599101	A	C	25599101	3	2	131	1	0	0	0	0	1	0	0	0	13357	69	3	5	65	5	RHD	1	25599101	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1103138	25599101	223651520	19	20159										
TMEM50A	23585	genome.wustl.edu	37	chr1	25669500	25669500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgcagctgttatttatcccAccatgaaagatttcaaccac	5	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:25669500A>C	ENST00000374358.4	+	3	695	c.142A>C	c.(142-144)Acc>Ccc	p.T48P	RNU6-1171P_ENST00000516706.1_RNA|TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	48						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TATTTATCCCACCATGAAAGA	0.378																																																	0													168	148	155					1																	25669500		2203	4300	6503	SO:0001583	missense	23585			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"small membrane protein 1"	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.142A>C	1.37:g.25669500A>C	ENSP00000363478:p.Thr48Pro			Missense_Mutation	SNP	pfam_UPF0220	p.T48P	ENST00000374358.4	37	c.142	CCDS264.1	1	.	.	.	.	.	.	.	.	.	.	A	9.322	1.058274	0.19987	.	.	ENSG00000183726	ENST00000374358	T	0.31769	1.48	5.63	-5.13	0.02884	.	1.484170	0.03430	N	0.207655	T	0.13157	0.0319	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13282	-1.0515	10	0.26408	T	0.33	.	2.5229	0.04684	0.3734:0.1852:0.0635:0.3779	.	48;48	B7Z5M7;O95807	.;TM50A_HUMAN	P	48	ENSP00000363478:T48P	ENSP00000363478:T48P	T	+	1	0	TMEM50A	25542087	0.000000	0.05858	0.009000	0.14445	0.751000	0.42716	-1.052000	0.03503	-0.543000	0.06240	-0.418000	0.06021	ACC	TMEM50A	-	pfam_UPF0220		0.378	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1	A			25669500	1	no_errors	ENST00000374358	ensembl	human	known	70_37	missense	SNP	0.000	C	C	25669500	A	C	25669500	3	2	131	1	0	0	0	0	1	0	0	0	16205	159	6	5	148	5	TMEM50A	1	25669500	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	70399	25669500	223581121	20	20160										
CATSPER4	378807	genome.wustl.edu	37	chr1	26526467	26526467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcattggcatcaacctgtTcgtcatcgtggtgaccacca	8	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:26526467T>C	ENST00000456354.2	+	7	972	c.905T>C	c.(904-906)tTc>tCc	p.F302S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	302					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAACCTGTTCGTCATCGTG	0.512																																																	0													166	102	124					1																	26526467		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.905T>C	1.37:g.26526467T>C	ENSP00000390423:p.Phe302Ser		A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.F302S	ENST00000456354.2	37	c.905	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620970	0.46736	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98792	-5.14;-5.14	5.15	4.02	0.46733	Ion transport (1);	0.306162	0.22779	N	0.055741	D	0.97798	0.9277	M	0.84219	2.685	0.29067	N	0.883544	P;P	0.42584	0.784;0.744	B;B	0.42522	0.39;0.201	D	0.95837	0.8863	10	0.87932	D	0	-2.7179	7.6961	0.28596	0.0:0.0968:0.0:0.9032	.	302;286	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	S	302	ENSP00000341006:F302S;ENSP00000390423:F302S	ENSP00000341006:F302S	F	+	2	0	CATSPER4	26399054	1.000000	0.71417	0.967000	0.41034	0.659000	0.38960	3.094000	0.50227	0.919000	0.36945	0.383000	0.25322	TTC	CATSPER4	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.512	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	T	NM_198137		26526467	1	no_errors	ENST00000456354	ensembl	human	known	70_37	missense	SNP	0.995	C	C	26526467	T	C	26526467	3	2	131	1	0	0	0	0	1	0	0	0	2695	1783	62	5	931	5	CATSPER4	1	26526467	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	856967	26526467	222724154	21	20161										
ARID1A	8289	genome.wustl.edu	37	chr1	27106354	27106354	+	Nonsense_Mutation	SNP	C	C	T													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgtgtgtccaataccattCgaagcctgtcatttgtgcca							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:27106354C>T	ENST00000324856.7	+	20	6336	c.5965C>T	c.(5965-5967)Cga>Tga	p.R1989*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1772*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1606*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R317*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1989					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1989*(8)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATACCATTCGAAGCCTGTC	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	8	Substitution - Nonsense(8)	ovary(2)|large_intestine(2)|endometrium(2)|pancreas(2)											116	98	104					1																	27106354		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5965C>T	1.37:g.27106354C>T	ENSP00000320485:p.Arg1989*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R1989*	ENST00000324856.7	37	c.5965	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.391795|10.391795	0.99396|0.99396	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65091	.|0.2658	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62291	.|-0.6885	.|4	0.02654|.	T|.	1|.	-1.0676|-1.0676	13.6179|13.6179	0.62120|0.62120	0.1916:0.8084:0.0:0.0|0.1916:0.8084:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1989;1772;1606;317|885	.|.	ENSP00000320485:R1989X|.	R|S	+|+	1|2	2|0	ARID1A|ARID1A	26978941|26978941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.555000|4.555000	0.60767|0.60767	2.760000|2.760000	0.94817|0.94817	0.478000|0.478000	0.44815|0.44815	CGA|TCG	ARID1A	-	pfam_DUF3518		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27106354	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27106354	C	T	27106354	4	4	131	1	0	0	0	0	0	1	0	0	913	876	31	1	6043	1	ARID1A	1	27106354	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	579887	27106354	222144267	22	20162	120	2								
ARID1A	8289	genome.wustl.edu	37	chr1	27106364	27106364	+	Nonsense_Mutation	SNP	C	C	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caataccattcgaagcctgtCatttgtgccaggcaatgact							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:27106364C>A	ENST00000324856.7	+	20	6346	c.5975C>A	c.(5974-5976)tCa>tAa	p.S1992*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1775*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S1609*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.S320*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1992					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1992*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGAAGCCTGTCATTTGTGCCA	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	urinary_tract(1)											112	96	101					1																	27106364		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5975C>A	1.37:g.27106364C>A	ENSP00000320485:p.Ser1992*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1992*	ENST00000324856.7	37	c.5975	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.597515	0.99434	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8875	18.8459	0.92205	0.0:1.0:0.0:0.0	.	.	.	.	X	1992;1775;1609;320	.	ENSP00000320485:S1992X	S	+	2	0	ARID1A	26978951	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.457000	0.80775	2.760000	0.94817	0.478000	0.44815	TCA	ARID1A	-	pfam_DUF3518		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27106364	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27106364	C	A	27106364	4	1	131	1	0	0	0	0	0	1	0	0	913	838	29	3	6053	3	ARID1A	1	27106364	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	10	27106364	222144257	23	20163	120	2								
EYA3	2140	genome.wustl.edu	37	chr1	28362124	28362124	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggttgagtctgctgtagtgTctggtattgagtctgtccag	15	6	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:28362124T>G	ENST00000373871.3	-	6	532	c.292A>C	c.(292-294)Aca>Cca	p.T98P	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.T98P|EYA3_ENST00000545175.1_Missense_Mutation_p.T45P|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000540618.1_Missense_Mutation_p.T98P|EYA3_ENST00000436342.2_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	98					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGCTGTAGTGTCTGGTATTGA	0.418																																																	0													248	239	242					1																	28362124		2203	4300	6503	SO:0001583	missense	2140			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.292A>C	1.37:g.28362124T>G	ENSP00000362978:p.Thr98Pro		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.T98P	ENST00000373871.3	37	c.292	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464333	0.43736	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D	0.92699	-3.09;-3.0;-3.05;-2.9	5.29	1.68	0.24146	.	0.257624	0.46145	D	0.000312	D	0.83138	0.5189	N	0.22421	0.69	0.80722	D	1	B;B;B	0.34015	0.435;0.004;0.001	B;B;B	0.35688	0.208;0.004;0.006	T	0.74965	-0.3484	10	0.44086	T	0.13	-21.9487	4.4195	0.11474	0.0:0.254:0.1687:0.5773	.	98;98;98	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	P	98;98;45;98	ENSP00000362978:T98P;ENSP00000442558:T98P;ENSP00000442280:T45P;ENSP00000362970:T98P	ENSP00000362970:T98P	T	-	1	0	EYA3	28234711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.900000	0.28431	0.402000	0.25451	0.533000	0.62120	ACA	EYA3	-	NULL		0.418	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	T	NM_001990		28362124	-1	no_errors	ENST00000373871	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28362124	T	G	28362124	3	3	131	1	0	0	0	0	1	0	0	0	5342	1667	58	5	1481	5	EYA3	1	28362124	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1255760	28362124	220888497	24	20164										
GMEB1	10691	genome.wustl.edu	37	chr1	29018110	29018110	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttcagatacaggcactatAgaagcaaatgaggatatgga	10	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:29018110A>C	ENST00000294409.2	+	4	345	c.255A>C	c.(253-255)atA>atC	p.I85I	GMEB1_ENST00000361872.4_Silent_p.I75I|SCARNA24_ENST00000516968.1_RNA|GMEB1_ENST00000373816.1_Silent_p.I75I|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	85	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCACTATAGAAGCAAATG	0.388																																																	0													100	94	96					1																	29018110		2203	4300	6503	SO:0001819	synonymous_variant	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.255A>C	1.37:g.29018110A>C			B1AT48|Q9NWH1|Q9UKD0	Silent	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.I85	ENST00000294409.2	37	c.255	CCDS327.1	1																																																																																			GMEB1	-	pfscan_SAND_dom		0.388	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	A	NM_006582		29018110	1	no_errors	ENST00000294409	ensembl	human	known	70_37	silent	SNP	0.997	C	C	29018110	A	C	29018110	2	2	131	1	0	0	0	0	0	0	0	1	6506	410	15	5		5	GMEB1	1	29018110	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	655986	29018110	220232511	25	20165										
MECR	51102	genome.wustl.edu	37	chr1	29533354	29533354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtggcagcgctctgaagaGggatgtcactcggaacttgg	17	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:29533354G>A	ENST00000263702.6	-	4	495	c.470C>T	c.(469-471)cCt>cTt	p.P157L	MECR_ENST00000373791.3_Missense_Mutation_p.P81L|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	157					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTCTGAAGAGGGATGTCACT	0.562																																																	0													146	119	128					1																	29533354		2203	4300	6503	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.470C>T	1.37:g.29533354G>A	ENSP00000263702:p.Pro157Leu		B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.P157L	ENST00000263702.6	37	c.470	CCDS30659.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891355	0.91889	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	T;T	0.31510	1.49;1.49	5.89	5.89	0.94794	GroES-like (1);	0.095726	0.64402	D	0.000001	T	0.50922	0.1644	M	0.93720	3.45	0.80722	D	1	P	0.47910	0.902	B	0.42798	0.398	T	0.65500	-0.6153	10	0.59425	D	0.04	.	17.7556	0.88447	0.0:0.0:1.0:0.0	.	157	Q9BV79	MECR_HUMAN	L	81;157;69	ENSP00000362896:P81L;ENSP00000263702:P157L	ENSP00000263702:P157L	P	-	2	0	MECR	29405941	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.813000	0.91963	2.793000	0.96121	0.655000	0.94253	CCT	MECR	-	superfamily_GroES-like,smart_PKS_ER		0.562	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECR	HGNC	protein_coding	OTTHUMT00000130740.1	G	NM_016011		29533354	-1	no_errors	ENST00000263702	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29533354	G	A	29533354	3	1	131	1	0	0	0	0	1	0	0	0	9447	1000	35	4	679	4	MECR	1	29533354	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	515244	29533354	219717267	26	20166										
BAI2	576	genome.wustl.edu	37	chr1	32207497	32207497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctggcacatgcggaagcggcGctgccagcctgtgtcacacg	14	14	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:32207497G>A	ENST00000373658.3	-	9	1830	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	BAI2_ENST00000398538.1_Missense_Mutation_p.R485C|BAI2_ENST00000527361.1_Missense_Mutation_p.R497C|BAI2_ENST00000440175.2_Missense_Mutation_p.R139C|BAI2_ENST00000398547.1_Missense_Mutation_p.R430C|BAI2_ENST00000373655.2_Missense_Mutation_p.R497C|BAI2_ENST00000398556.3_Missense_Mutation_p.R445C|BAI2_ENST00000257070.4_Missense_Mutation_p.R497C|BAI2_ENST00000398542.1_Missense_Mutation_p.R430C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	497	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGAAGCGGCGCTGCCAGCCT	0.627																																																	0													59	61	61					1																	32207497		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1489C>T	1.37:g.32207497G>A	ENSP00000362762:p.Arg497Cys		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R497C	ENST00000373658.3	37	c.1489	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282317	0.80692	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	4.95	4.95	0.65309	.	0.000000	0.39210	N	0.001429	T	0.70587	0.3241	M	0.85945	2.785	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.994;0.994;0.99;0.993;0.993;0.998;0.993	T	0.75611	-0.3258	10	0.87932	D	0	.	13.0323	0.58848	0.0:0.0:0.8381:0.1619	.	430;497;485;139;430;497;497	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	C	445;430;497;497;430;497;497;139;485;435;476	ENSP00000381564:R445C;ENSP00000381555:R430C;ENSP00000362762:R497C;ENSP00000362759:R497C;ENSP00000381550:R430C;ENSP00000257070:R497C;ENSP00000435397:R497C;ENSP00000391071:R139C;ENSP00000381548:R485C;ENSP00000410921:R435C;ENSP00000437219:R476C	ENSP00000257070:R497C	R	-	1	0	BAI2	31980084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.648000	0.54410	2.457000	0.83068	0.561000	0.74099	CGC	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32207497	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32207497	G	A	32207497	3	1	131	1	0	0	0	0	1	0	0	0	1300	1087	38	2	3368	2	BAI2	1	32207497	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2674143	32207497	217043124	27	20167										
SPOCD1	90853	genome.wustl.edu	37	chr1	32259416	32259416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagcaggcataggagtttgGcttagggctttctggaagat	16	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:32259416G>T	ENST00000360482.2	-	12	2595	c.2466C>A	c.(2464-2466)agC>agA	p.S822R	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S822R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S315R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	822					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TAGGAGTTTGGCTTAGGGCTT	0.572																																																	0													178	180	179					1																	32259416		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2466C>A	1.37:g.32259416G>T	ENSP00000353670:p.Ser822Arg		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.S822R	ENST00000360482.2	37	c.2466	CCDS347.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.79|11.79	1.745042|1.745042	0.30865|0.30865	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000528579|ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	.|T;T;T;T	.|0.53857	.|0.6;1.59;0.67;1.61	4.95|4.95	3.02|3.02	0.34903|0.34903	.|.	.|.	.|.	.|.	.|.	T|T	0.61185|0.61185	0.2327|0.2327	M|M	0.61703|0.61703	1.905|1.905	0.19775|0.19775	N|N	0.999955|0.999955	.|P;D;D	.|0.71674	.|0.627;0.996;0.998	.|B;P;P	.|0.59115	.|0.155;0.806;0.852	T|T	0.49466|0.49466	-0.8937|-0.8937	5|9	.|0.54805	.|T	.|0.06	-7.9736|-7.9736	6.7626|6.7626	0.23548|0.23548	0.1011:0.1804:0.7185:0.0|0.1011:0.1804:0.7185:0.0	.|.	.|822;258;822	.|Q6ZMY3-2;E9PPM7;Q6ZMY3	.|.;.;SPOC1_HUMAN	D|R	196|315;822;219;258;822;165	.|ENSP00000257100:S315R;ENSP00000353670:S822R;ENSP00000399778:S258R;ENSP00000435851:S822R	.|ENSP00000257100:S315R	A|S	-|-	2|3	0|2	SPOCD1|SPOCD1	32032003|32032003	0.860000|0.860000	0.29831|0.29831	0.041000|0.041000	0.18516|0.18516	0.114000|0.114000	0.19823|0.19823	1.955000|1.955000	0.40372|0.40372	0.721000|0.721000	0.32231|0.32231	0.563000|0.563000	0.77884|0.77884	GCC|AGC	SPOCD1	-	NULL		0.572	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	G	NM_144569		32259416	-1	no_errors	ENST00000360482	ensembl	human	known	70_37	missense	SNP	0.183	T	T	32259416	G	T	32259416	3	4	131	1	0	0	0	0	1	0	0	0	15108	1194	42	4	1204	4	SPOCD1	1	32259416	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	51919	32259416	216991205	28	20168										
C1orf113	79729	genome.wustl.edu	37	chr1	36786140	36786142	+	In_Frame_Del	DEL	GAG	GAG	-													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagagggagtggcttccaaaGaggaggtgaccctgaaagag							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36786140_36786142delGAG	ENST00000426732.2	+	13	1813_1815	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E511del	EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_In_Frame_Del_p.E627del|SH3D21_ENST00000312808.4_In_Frame_Del_p.E273del|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_In_Frame_Del_p.E516del			A4FU49	SH321_HUMAN	SH3 domain containing 21	511						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GGCTTCCAAAGAGGAGGTGACCC	0.567																																																	0																																										SO:0001651	inframe_deletion	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1528_1530delGAG	1.37:g.36786143_36786145delGAG	ENSP00000408613:p.Glu511del		B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	In_Frame_Del	DEL	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.E627in_frame_del	ENST00000426732.2	37	c.1876_1878		1																																																																																			SH3D21	-	NULL		0.567	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		GAG	NM_024676		36786142	1	no_errors	ENST00000453908	ensembl	human	known	70_37	in_frame_del	DEL	0.000:0.004:0.017	-	-	36786142	GAG	-	36786140	7	5	131	1	0	1	0	1	0	0	0	0	1991	943	33	0	1930	0	C1orf113	1	36786140	In_Frame_Del	DEL	GAG	TCGA-FU-A3HZ-01A-11D-A20U-09	4526724	36786140	212464481	29	20169										
MRPS15	64960	genome.wustl.edu	37	chr1	36926863	36926863	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggcttggcagaggctgctcAccttgttggccatttccaaa	11	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36926863A>C	ENST00000373116.5	-	4	462		c.e4+1		MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGCTGCTCACCTTGTTGGC	0.527																																																	0													74	74	74					1																	36926863		2203	4300	6503	SO:0001630	splice_region_variant	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"Mitochondrial ribosomal proteins / small subunits"	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.300+1T>G	1.37:g.36926863A>C			B2RD82|Q9H2K1	Splice_Site	SNP	-	e4+2	ENST00000373116.5	37	c.300+2	CCDS411.1	1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184673	0.78677	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5785	0.76414	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS15	36699450	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.919000	0.87513	2.333000	0.79357	0.533000	0.62120	.	MRPS15	-	-		0.527	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS15	HGNC	protein_coding	OTTHUMT00000022052.2	A	NM_031280	Intron	36926863	-1	no_errors	ENST00000373116	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	36926863	A	C	36926863	5	2	131	1	0	0	0	0	0	0	1	0	9848	173	6	5	491	5	MRPS15	1	36926863	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	140723	36926863	212323758	30	20170										
CSF3R	1441	genome.wustl.edu	37	chr1	36937198	36937198	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggcctgagggtctccaaGaaaccacataaccttggatc	9	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36937198G>T	ENST00000373106.1	-	10	1668	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y	CSF3R_ENST00000373103.1_Missense_Mutation_p.S374Y|CSF3R_ENST00000338937.5_Missense_Mutation_p.S374Y|CSF3R_ENST00000373104.1_Missense_Mutation_p.S374Y|CSF3R_ENST00000331941.5_Missense_Mutation_p.S374Y|CSF3R_ENST00000418048.2_Missense_Mutation_p.S374Y|CSF3R_ENST00000440588.2_Missense_Mutation_p.S374Y|CSF3R_ENST00000361632.4_Missense_Mutation_p.S374Y|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	374	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGTCTCCAAGAAACCACATA	0.602																																																	0													96	99	98					1																	36937198		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1121C>A	1.37:g.36937198G>T	ENSP00000362198:p.Ser374Tyr			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S374Y	ENST00000373106.1	37	c.1121	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274582	0.59649	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.05	3.92	0.45320	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.035390	0.07590	N	0.921808	T	0.30823	0.0777	M	0.68952	2.095	0.35300	D	0.78293	D;D;D;D	0.64830	0.988;0.993;0.976;0.994	P;P;P;P	0.61132	0.686;0.833;0.686;0.884	T	0.33777	-0.9855	10	0.02654	T	1	-27.2197	9.2919	0.37791	0.1168:0.0:0.8832:0.0	.	374;374;374;374	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	Y	374	ENSP00000362198:S374Y;ENSP00000362196:S374Y;ENSP00000362195:S374Y;ENSP00000355406:S374Y;ENSP00000332180:S374Y;ENSP00000401588:S374Y;ENSP00000345013:S374Y;ENSP00000397568:S374Y	ENSP00000332180:S374Y	S	-	2	0	CSF3R	36709785	1.000000	0.71417	0.990000	0.47175	0.909000	0.53808	2.750000	0.47500	2.332000	0.79248	0.561000	0.74099	TCT	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	G	NM_156039		36937198	-1	no_errors	ENST00000373103	ensembl	human	known	70_37	missense	SNP	0.807	T	T	36937198	G	T	36937198	3	4	131	1	0	0	0	0	1	0	0	0	3942	942	33	3	1611	3	CSF3R	1	36937198	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	10335	36937198	212313423	31	20171										
KIAA0754	643314	genome.wustl.edu	37	chr1	39876975	39876975	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaactgtcagacagggaaaaGacttttctgatggcagatga	11	6	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:39876975G>T	ENST00000530275.1	+	1	825	c.630G>T	c.(628-630)aaG>aaT	p.K210N	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	210										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGGGAAAAGACTTTTCTGA	0.458											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													98	100	100					1																	39876975		1957	4148	6105	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.630G>T	1.37:g.39876975G>T	ENSP00000431179:p.Lys210Asn	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.K210N	ENST00000530275.1	37	c.630		1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812431	0.32053	.	.	ENSG00000255103	ENST00000530275	T	0.28454	1.61	4.63	1.67	0.24075	.	.	.	.	.	T	0.18045	0.0433	N	0.24115	0.695	0.21184	N	0.999765	B	0.32203	0.36	B	0.32022	0.139	T	0.23404	-1.0189	9	0.87932	D	0	.	3.125	0.06405	0.1509:0.1404:0.563:0.1456	.	210	O94854	K0754_HUMAN	N	210	ENSP00000431179:K210N	ENSP00000431179:K210N	K	+	3	2	RP4-562N20.1	39649562	0.996000	0.38824	0.942000	0.38095	0.781000	0.44180	1.973000	0.40550	0.131000	0.18576	-0.152000	0.13540	AAG	KIAA0754	-	NULL		0.458	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39876975	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.791	T	T	39876975	G	T	39876975	3	4	131	1	0	0	0	0	1	0	0	0	8212	933	33	3	1040	3	KIAA0754	1	39876975	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2939777	39876975	209373646	32	20172										
MACF1	23499	genome.wustl.edu	37	chr1	39934326	39934326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcggctggtccgtattctgCgcagcaccgtgatggttcgc	14	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:39934326C>T	ENST00000372915.3	+	94	21577	c.21490C>T	c.(21490-21492)Cgc>Tgc	p.R7164C	MACF1_ENST00000361689.2_Missense_Mutation_p.R5206C|MACF1_ENST00000539005.1_Missense_Mutation_p.R5076C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5714C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7271C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5206C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7308C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5206C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7164	C-terminal tail. {ECO:0000250}.|GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGTATTCTGCGCAGCACCGT	0.433																																																	0													105	103	104					1																	39934326		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21490C>T	1.37:g.39934326C>T	ENSP00000362006:p.Arg7164Cys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R5206C	ENST00000372915.3	37	c.15616		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716622|4.716622	0.89205|0.89205	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|T;T;T;T;T;T	.|0.76709	.|-1.01;-0.9;-1.01;-1.04;-0.82;0.03	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Growth-arrest-specific protein 2 domain (10);	.|0.000000	.|0.64402	.|D	.|0.000006	D|D	0.87716|0.87716	0.6247|0.6247	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.998;1.0;1.0;0.999	D|D	0.87061|0.87061	0.2153|0.2153	5|9	.|.	.|.	.|.	.|.	14.7155|14.7155	0.69265|0.69265	0.2549:0.7451:0.0:0.0|0.2549:0.7451:0.0:0.0	.|.	.|7164;5206;5714;106	.|Q9UPN3;F8W8Q1;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;MACF4_HUMAN;.	V|C	4209;193|5206;7164;5206;5206;5076;5714;83;45	.|ENSP00000439537:R5206C;ENSP00000362006:R7164C;ENSP00000354573:R5206C;ENSP00000313438:R5206C;ENSP00000444364:R5076C;ENSP00000289893:R5714C	.|.	A|R	+|+	2|1	0|0	MACF1|MACF1	39706913|39706913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.956000|3.956000	0.56722|0.56722	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGC	MACF1	-	pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39934326	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39934326	C	T	39934326	3	4	131	1	0	0	0	0	1	0	0	0	9167	768	27	2	22151	2	MACF1	1	39934326	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	57351	39934326	209316295	33	20173										
RLF	6018	genome.wustl.edu	37	chr1	40704800	40704800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ataaagactattatgatgatTtgtttagaagccagaaagta	8	3	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:40704800T>G	ENST00000372771.4	+	8	4453	c.4426T>G	c.(4426-4428)Ttg>Gtg	p.L1476V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1476					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTATGATGATTTGTTTAGAAG	0.393																																																	0													64	63	63					1																	40704800		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4426T>G	1.37:g.40704800T>G	ENSP00000361857:p.Leu1476Val		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1476V	ENST00000372771.4	37	c.4426	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	T	8.765	0.924581	0.18056	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.22743	1.94	6.02	4.13	0.48395	.	0.125569	0.56097	N	0.000038	T	0.20088	0.0483	L	0.50333	1.59	0.33610	D	0.603433	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.12372	-1.0550	10	0.51188	T	0.08	-5.1684	10.4723	0.44644	0.0:0.6792:0.252:0.0688	.	1169;1476	F5H2M5;Q13129	.;RLF_HUMAN	V	1476;1169	ENSP00000361857:L1476V	ENSP00000361857:L1476V	L	+	1	2	RLF	40477387	0.988000	0.35896	1.000000	0.80357	0.934000	0.57294	1.565000	0.36386	0.848000	0.35191	-0.242000	0.12053	TTG	RLF	-	NULL		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	T	NM_012421		40704800	1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	0.994	G	G	40704800	T	G	40704800	3	3	131	1	0	0	0	0	1	0	0	0	13419	1838	64	5	4456	5	RLF	1	40704800	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	770474	40704800	208545821	34	20174										
ZMPSTE24	10269	genome.wustl.edu	37	chr1	40737688	40737688	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtattgactttcctttgacGaaggtgtatgttgtggaagg	13	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:40737688G>A	ENST00000372759.3	+	6	915	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	250					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTCCTTTGACGAAGGTGTATG	0.333																																																	0													110	105	107					1																	40737688		2203	4300	6503	SO:0001819	synonymous_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.750G>A	1.37:g.40737688G>A			B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	pfam_Peptidase_M48	p.T250	ENST00000372759.3	37	c.750	CCDS449.1	1																																																																																			ZMPSTE24	-	pfam_Peptidase_M48		0.333	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	G			40737688	1	no_errors	ENST00000372759	ensembl	human	known	70_37	silent	SNP	0.943	A	A	40737688	G	A	40737688	2	1	131	1	0	0	0	0	0	0	0	1	17728	1045	37	1		1	ZMPSTE24	1	40737688	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	32888	40737688	208512933	35	20175										
SMAP2	64744	genome.wustl.edu	37	chr1	40881971	40881971	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctctctaaagactccattCtttcactgtatggatcccag	6	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:40881971C>A	ENST00000539317.1	+	8	758	c.565C>A	c.(565-567)Ctt>Att	p.L189I		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	269	Interaction with clathrin heavy chains. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AGACTCCATTCTTTCACTGTA	0.493																																																	0													128	125	126					1																	40881971		2203	4300	6503	SO:0001583	missense	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.565C>A	1.37:g.40881971C>A	ENSP00000442835:p.Leu189Ile		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L269I	ENST00000539317.1	37	c.805	CCDS55593.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816301	0.90790	.	.	ENSG00000084070	ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.63744	0.66;0.55;-0.06	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.77232	0.4100	M	0.76170	2.325	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.80764	0.994;0.978;0.967	T	0.78393	-0.2221	10	0.72032	D	0.01	-18.1823	12.5938	0.56456	0.0:0.9215:0.0:0.0785	.	189;239;269	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	I	269;239;189	ENSP00000361803:L269I;ENSP00000361793:L239I;ENSP00000442835:L189I	ENSP00000361793:L239I	L	+	1	0	SMAP2	40654558	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.297000	0.59061	2.941000	0.99782	0.655000	0.94253	CTT	SMAP2	-	NULL		0.493	SMAP2-201	KNOWN	basic|CCDS	protein_coding	SMAP2	HGNC	protein_coding		C	NM_022733		40881971	1	no_errors	ENST00000372718	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40881971	C	A	40881971	3	1	131	1	0	0	0	0	1	0	0	0	14797	913	32	3	835	3	SMAP2	1	40881971	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	144283	40881971	208368650	36	20176										
SCMH1	22955	genome.wustl.edu	37	chr1	41503061	41503061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcatagcctgcgcacagctgAggcagtgcttggtgggaggc	17	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:41503061A>C	ENST00000326197.7	-	12	1920	c.1621T>G	c.(1621-1623)Tca>Gca	p.S541A	SCMH1_ENST00000361705.3_Missense_Mutation_p.S494A|SCMH1_ENST00000397174.2_Missense_Mutation_p.S521A|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000337495.5_Missense_Mutation_p.S551A|SCMH1_ENST00000372596.1_Missense_Mutation_p.S480A|SCMH1_ENST00000402904.2_Missense_Mutation_p.S541A|SCMH1_ENST00000372597.1_Missense_Mutation_p.S494A|SCMH1_ENST00000372595.1_Missense_Mutation_p.S480A|SCMH1_ENST00000456518.2_Missense_Mutation_p.S383A|SCMH1_ENST00000397171.2_Missense_Mutation_p.S480A|SCMH1_ENST00000361191.5_Missense_Mutation_p.S480A					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGCACAGCTGAGGCAGTGCTT	0.582																																																	0													152	134	140					1																	41503061		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1621T>G	1.37:g.41503061A>C	ENSP00000318094:p.Ser541Ala			Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.S541A	ENST00000326197.7	37	c.1621	CCDS30688.1	1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.324077	0.24080	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.23754	2.23;1.89;2.18;2.22;2.23;2.23;2.23;2.23;2.22;2.18;2.18	4.18	4.18	0.49190	.	0.257238	0.26867	N	0.022089	T	0.14614	0.0353	N	0.24115	0.695	0.27408	N	0.954649	B;B;B;B	0.21520	0.038;0.057;0.033;0.0	B;B;B;B	0.22152	0.017;0.038;0.015;0.002	T	0.18871	-1.0323	10	0.06236	T	0.91	.	11.4727	0.50280	1.0:0.0:0.0:0.0	.	383;551;494;541	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	A	494;383;541;521;480;480;494;480;551;480;541	ENSP00000354996:S494A;ENSP00000403974:S383A;ENSP00000386079:S541A;ENSP00000380359:S521A;ENSP00000380356:S480A;ENSP00000354656:S480A;ENSP00000361678:S494A;ENSP00000361677:S480A;ENSP00000337352:S551A;ENSP00000361676:S480A;ENSP00000318094:S541A	ENSP00000318094:S541A	S	-	1	0	SCMH1	41275648	1.000000	0.71417	0.789000	0.31954	0.454000	0.32378	3.600000	0.54052	2.105000	0.64084	0.460000	0.39030	TCA	SCMH1	-	NULL		0.582	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	A			41503061	-1	no_errors	ENST00000326197	ensembl	human	known	70_37	missense	SNP	0.939	C	C	41503061	A	C	41503061	3	2	131	1	0	0	0	0	1	0	0	0	13938	304	11	5	377	5	SCMH1	1	41503061	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	621090	41503061	207747560	37	20177										
PTPRF	5792	genome.wustl.edu	37	chr1	44044575	44044575	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacgttactcagcccctgcGaacctgtatgtgcgaggtaa	10	12	1	0	rs540168118	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:44044575G>A	ENST00000359947.4	+	7	1003	c.663G>A	c.(661-663)gcG>gcA	p.A221A	PTPRF_ENST00000438120.1_Silent_p.A221A|PTPRF_ENST00000372413.3_Silent_p.A221A|PTPRF_ENST00000372414.3_Silent_p.A221A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	221	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCCCCTGCGAACCTGTATG	0.612													G|||	6	0.00119808	0	0	5008	,	,		20707	0		0	False		,,,				2504	0.0061																0													153	105	121					1																	44044575		2203	4300	6503	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.663G>A	1.37:g.44044575G>A			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.A221	ENST00000359947.4	37	c.663	CCDS489.2	1																																																																																			PTPRF	-	smart_Ig_sub,pfscan_Ig-like		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44044575	1	no_errors	ENST00000359947	ensembl	human	known	70_37	silent	SNP	0.726	A	A	44044575	G	A	44044575	2	1	131	1	0	0	0	0	0	0	0	1	12831	1045	37	1		1	PTPRF	1	44044575	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2541514	44044575	205206046	38	20178										
PTCH2	8643	genome.wustl.edu	37	chr1	45294014	45294014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgctggcagtggcgccgccGtaggtccaggctgaggatgg	19	11	0	1	rs369481564		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:45294014G>A	ENST00000372192.3	-	13	1793	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	PTCH2_ENST00000447098.2_Missense_Mutation_p.R555W	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	555					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCGCCGCCGTAGGTCCAGG	0.652									Basal Cell Nevus syndrome																																								0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	53	57	55		1663,1663	3	1	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTCH2	NM_001166292.1,NM_003738.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	555/1147,555/1204	45294014	1,13005	2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1663C>T	1.37:g.45294014G>A	ENSP00000361266:p.Arg555Trp		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.R555W	ENST00000372192.3	37	c.1663	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868051	0.72065	0.0	1.16E-4	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.96716	-4.1;-4.1	4.93	3.05	0.35203	.	0.677028	0.13452	N	0.386812	D	0.97473	0.9173	M	0.92738	3.34	0.37763	D	0.926401	P;P	0.49447	0.924;0.688	P;P	0.51135	0.66;0.579	D	0.97659	1.0159	10	0.59425	D	0.04	-33.9475	10.2511	0.43370	0.163:0.0:0.837:0.0	.	555;555	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	W	555	ENSP00000389703:R555W;ENSP00000361266:R555W	ENSP00000361266:R555W	R	-	1	2	PTCH2	45066601	1.000000	0.71417	0.961000	0.40146	0.957000	0.61999	2.118000	0.41949	1.076000	0.40961	0.313000	0.20887	CGG	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.652	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45294014	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45294014	G	A	45294014	3	1	131	1	0	0	0	0	1	0	0	0	12758	1144	40	2	2008	2	PTCH2	1	45294014	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1249439	45294014	203956607	39	20179										
POMGNT1	55624	genome.wustl.edu	37	chr1	46657887	46657887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccgcatccacatgtcccaAtcccagagctggcagacatg	8	15	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:46657887A>C	ENST00000371984.3	-	17	1579	c.1422T>G	c.(1420-1422)gaT>gaG	p.D474E	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.D474E|POMGNT1_ENST00000371986.3_Missense_Mutation_p.D474E|POMGNT1_ENST00000535522.1_Missense_Mutation_p.D452E|POMGNT1_ENST00000485714.1_5'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	474					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACATGTCCCAATCCCAGAGCT	0.567																																																	0													119	104	109					1																	46657887		2203	4300	6503	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1422T>G	1.37:g.46657887A>C	ENSP00000361052:p.Asp474Glu		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.D474E	ENST00000371984.3	37	c.1422	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141374	0.77775	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.54	2.56	0.30785	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;1.0;0.999;1.0;1.0	D	0.95170	0.8289	10	0.41790	T	0.15	-17.795	9.2278	0.37418	0.289:0.0:0.711:0.0	.	452;452;452;474;331;474	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	E	474;474;452;474	ENSP00000361052:D474E;ENSP00000361060:D474E;ENSP00000443767:D452E;ENSP00000361054:D474E	ENSP00000361052:D474E	D	-	3	2	POMGNT1	46430474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.614000	0.36911	0.859000	0.35456	-0.248000	0.11899	GAT	POMGNT1	-	pfam_Glyco_trans_13		0.567	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	A	NM_017739		46657887	-1	no_errors	ENST00000371986	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46657887	A	C	46657887	3	2	131	1	0	0	0	0	1	0	0	0	12267	98	4	5	584	5	POMGNT1	1	46657887	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1363873	46657887	202592734	40	20180										
CYP4X1	260293	genome.wustl.edu	37	chr1	47489649	47489649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcgccccccacccactggTtccttgggcaccagaaggta	10	17	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:47489649T>C	ENST00000371901.3	+	1	410	c.160T>C	c.(160-162)Ttc>Ctc	p.F54L	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	54						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CACCCACTGGTTCCTTGGGCA	0.697																																																	0													15	17	17					1																	47489649		2197	4294	6491	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.160T>C	1.37:g.47489649T>C	ENSP00000360968:p.Phe54Leu		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F54L	ENST00000371901.3	37	c.160	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	t	3.511	-0.099694	0.07010	.	.	ENSG00000186377	ENST00000371901	T	0.65364	-0.15	6.03	-1.39	0.08997	.	0.594657	0.17193	N	0.183412	T	0.24005	0.0581	N	0.00778	-1.195	0.47009	D	0.999283	B	0.09022	0.002	B	0.15484	0.013	T	0.43782	-0.9370	10	0.02654	T	1	.	12.4743	0.55803	0.0:0.5887:0.0:0.4113	.	54	Q8N118	CP4X1_HUMAN	L	54	ENSP00000360968:F54L	ENSP00000360968:F54L	F	+	1	0	CYP4X1	47262236	0.978000	0.34361	0.265000	0.24526	0.691000	0.40173	0.312000	0.19397	-0.226000	0.09899	0.529000	0.55759	TTC	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.697	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	T	NM_178033		47489649	1	no_errors	ENST00000371901	ensembl	human	known	70_37	missense	SNP	0.290	C	C	47489649	T	C	47489649	3	2	131	1	0	0	0	0	1	0	0	0	4198	1725	60	5	162	5	CYP4X1	1	47489649	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	831762	47489649	201760972	41	20181										
AGBL4	84871	genome.wustl.edu	37	chr1	49100248	49100248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagggatccagccagtgacGattcagatcaaatcccatca	9	11	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:49100248G>A	ENST00000371839.1	-	9	984	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	AGBL4_ENST00000371838.1_Missense_Mutation_p.R290C|AGBL4_ENST00000334103.7_Missense_Mutation_p.R23C	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGCCAGTGACGATTCAGATCA	0.463																																																	0													84	85	85					1																	49100248		1971	4155	6126	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.868C>T	1.37:g.49100248G>A	ENSP00000360905:p.Arg290Cys		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.R290C	ENST00000371839.1	37	c.868	CCDS44137.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923207	0.92319	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838	T;T;T	0.24908	1.83;1.83;1.83	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (1);	0.193068	0.56097	D	0.000029	T	0.64875	0.2638	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.978;0.978;0.988;0.999;1.0	T	0.75906	-0.3152	9	.	.	.	-18.2076	17.0797	0.86595	0.0:0.0:1.0:0.0	.	105;302;23;135;290	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.;.;.;.;CBPC6_HUMAN	C	290;284;23;290	ENSP00000360905:R290C;ENSP00000335516:R23C;ENSP00000360904:R290C	.	R	-	1	0	AGBL4	48872835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.608000	0.90895	2.636000	0.89361	0.462000	0.41574	CGT	AGBL4	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.463	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	G	NM_032785		49100248	-1	no_errors	ENST00000371839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49100248	G	A	49100248	3	1	131	1	0	0	0	0	1	0	0	0	377	1058	37	1	667	1	AGBL4	1	49100248	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1610599	49100248	200150373	42	20182										
ZYG11B	79699	genome.wustl.edu	37	chr1	53287173	53287173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcatttatacaacatcaaaGatcatgaacatactgatccc	4	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:53287173G>T	ENST00000294353.6	+	14	2252	c.2107G>T	c.(2107-2109)Gat>Tat	p.D703Y	ZYG11B_ENST00000443756.2_Missense_Mutation_p.D633Y	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	703										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAACATCAAAGATCATGAACA	0.418																																																	0													100	86	91					1																	53287173		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2107G>T	1.37:g.53287173G>T	ENSP00000294353:p.Asp703Tyr		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D703Y	ENST00000294353.6	37	c.2107	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464046	0.43736	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.50813	0.73;0.73	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.285663	0.39909	N	0.001232	T	0.56366	0.1980	L	0.40543	1.245	0.80722	D	1	D;B	0.64830	0.994;0.308	P;B	0.58820	0.846;0.179	T	0.58446	-0.7635	10	0.66056	D	0.02	.	15.4607	0.75353	0.0:0.1389:0.8611:0.0	.	633;703	B4DK95;Q9C0D3	.;ZY11B_HUMAN	Y	633;703	ENSP00000400522:D633Y;ENSP00000294353:D703Y	ENSP00000294353:D703Y	D	+	1	0	ZYG11B	53059761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.428000	0.59894	2.496000	0.84212	0.591000	0.81541	GAT	ZYG11B	-	superfamily_ARM-type_fold		0.418	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	G	NM_024646		53287173	1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53287173	G	T	53287173	3	4	131	1	0	0	0	0	1	0	0	0	18283	942	33	3	2161	3	ZYG11B	1	53287173	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4186925	53287173	195963448	43	20183										
TMEM48	55706	genome.wustl.edu	37	chr1	54273423	54273423	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catggtagagtaacgagagaTttaagaggccactcactgtg	12	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:54273423T>G	ENST00000371429.3	-	8	1395	c.797A>C	c.(796-798)aAt>aCt	p.N266T	NDC1_ENST00000234725.8_Missense_Mutation_p.N151T|NDC1_ENST00000540001.1_Missense_Mutation_p.N266T|NDC1_ENST00000537333.1_Intron	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	266					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TAACGAGAGATTTAAGAGGCC	0.413																																																	0													144	148	147					1																	54273423		2203	4300	6503	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.797A>C	1.37:g.54273423T>G	ENSP00000360483:p.Asn266Thr		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.N266T	ENST00000371429.3	37	c.797	CCDS583.1	1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562404	0.45694	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.48201	0.82;0.82;0.82	5.18	4.06	0.47325	.	0.240740	0.48767	D	0.000172	T	0.49847	0.1581	L	0.47716	1.5	0.41849	D	0.990165	D;D	0.57571	0.957;0.98	P;P	0.57244	0.759;0.816	T	0.44467	-0.9326	10	0.10902	T	0.67	.	10.0606	0.42273	0.0:0.0804:0.0:0.9196	.	226;266	B4DHA3;Q9BTX1	.;NDC1_HUMAN	T	266;266;266;151	ENSP00000360483:N266T;ENSP00000440873:N266T;ENSP00000234725:N151T	ENSP00000234725:N151T	N	-	2	0	TMEM48	54046011	1.000000	0.71417	0.832000	0.32986	0.132000	0.20833	3.306000	0.51881	1.011000	0.39340	0.529000	0.55759	AAT	TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.413	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	T	NM_018087		54273423	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	missense	SNP	0.956	G	G	54273423	T	G	54273423	3	3	131	1	0	0	0	0	1	0	0	0	16202	1493	52	5	1271	5	TMEM48	1	54273423	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	986250	54273423	194977198	44	20184										
TMEM59	9528	genome.wustl.edu	37	chr1	54497852	54497852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaatgagcaagattcacttTtgtaggtagaggccctgctt	11	7	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:54497852T>G	ENST00000234831.5	-	8	1192	c.943A>C	c.(943-945)Aaa>Caa	p.K315Q	TMEM59_ENST00000371341.1_Missense_Mutation_p.K184Q|TMEM59_ENST00000470395.1_5'UTR|TMEM59_ENST00000371348.1_Missense_Mutation_p.K184Q|TMEM59_ENST00000371344.1_Missense_Mutation_p.K184Q	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	315					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGATTCACTTTTGTAGGTAGA	0.333																																																	0													78	80	79					1																	54497852		2202	4300	6502	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.943A>C	1.37:g.54497852T>G	ENSP00000234831:p.Lys315Gln		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.K315Q	ENST00000234831.5	37	c.943	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613978	0.87359	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341	T	0.66099	-0.19	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.68593	2.085	0.80722	D	1	P;D	0.71674	0.7;0.998	B;D	0.78314	0.31;0.991	T	0.80046	-0.1546	10	0.87932	D	0	.	15.4182	0.74987	0.0:0.0:0.0:1.0	.	316;315	D3DQ48;Q9BXS4	.;TMM59_HUMAN	Q	184;184;315;184	ENSP00000234831:K315Q	ENSP00000234831:K315Q	K	-	1	0	TMEM59	54270440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.235000	0.78143	2.227000	0.72691	0.528000	0.53228	AAA	TMEM59	-	NULL		0.333	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	T	NM_004872		54497852	-1	no_errors	ENST00000234831	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54497852	T	G	54497852	3	3	131	1	0	0	0	0	1	0	0	0	16215	1850	64	5	32	5	TMEM59	1	54497852	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	224429	54497852	194752769	45	20185										
BSND	7809	genome.wustl.edu	37	chr1	55465030	55465030	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggagcatgtgccagtgctaCcccaaggtaggtggtagtgg	16	8	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:55465030C>A	ENST00000371265.4	+	1	425	c.171C>A	c.(169-171)taC>taA	p.Y57*		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	57					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCCAGTGCTACCCCAAGGTAG	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)												0													50	45	47					1																	55465030		2203	4300	6503	SO:0001587	stop_gained	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.171C>A	1.37:g.55465030C>A	ENSP00000360312:p.Tyr57*		Q6NT28	Nonsense_Mutation	SNP	NULL	p.Y57*	ENST00000371265.4	37	c.171	CCDS602.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.133844	0.98085	.	.	ENSG00000162399	ENST00000371265	.	.	.	4.3	2.38	0.29361	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2491	9.2567	0.37588	0.0:0.8158:0.0:0.1842	.	.	.	.	X	57	.	ENSP00000360312:Y57X	Y	+	3	2	BSND	55237618	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.956000	0.40382	0.366000	0.24427	-0.362000	0.07510	TAC	BSND	-	NULL		0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	C	NM_057176		55465030	1	no_errors	ENST00000371265	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55465030	C	A	55465030	4	1	131	1	0	0	0	0	0	1	0	0	1534	518	18	4	173	4	BSND	1	55465030	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	967178	55465030	193785591	46	20186										
USP24	23358	genome.wustl.edu	37	chr1	55569602	55569602	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgatgcatagaaagcagttCttttataataatttgaagat	8	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:55569602C>A	ENST00000294383.6	-	42	4971	c.4972G>T	c.(4972-4974)Gaa>Taa	p.E1658*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E1498*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1658					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAAGCAGTTCTTTTATAATA	0.388																																																	0													58	56	57					1																	55569602		1833	4085	5918	SO:0001587	stop_gained	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4972G>T	1.37:g.55569602C>A	ENSP00000294383:p.Glu1658*		Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.E1658*	ENST00000294383.6	37	c.4972	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	44	11.147591	0.99522	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	18.7818	0.91937	0.0:1.0:0.0:0.0	.	.	.	.	X	1658;1498	.	ENSP00000294383:E1658X	E	-	1	0	USP24	55342190	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.408000	0.80041	2.878000	0.98634	0.650000	0.86243	GAA	USP24	-	superfamily_ARM-type_fold		0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	C			55569602	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55569602	C	A	55569602	4	1	131	1	0	0	0	0	0	1	0	0	17086	922	32	3	2998	3	USP24	1	55569602	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	104572	55569602	193681019	47	20187										
USP24	23358	genome.wustl.edu	37	chr1	55624561	55624561	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaacttacttctttgagaGaattcatcttagcactgaaa	5	7	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:55624561G>T	ENST00000294383.6	-	10	1216	c.1217C>A	c.(1216-1218)tCt>tAt	p.S406Y	USP24_ENST00000407756.1_Missense_Mutation_p.S294Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	406					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTCTTTGAGAGAATTCATCTT	0.363																																																	0													64	61	62					1																	55624561		1855	4091	5946	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1217C>A	1.37:g.55624561G>T	ENSP00000294383:p.Ser406Tyr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.S406Y	ENST00000294383.6	37	c.1217	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798825	0.90538	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67171	-0.25;1.1	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	L	0.40543	1.245	0.58432	D	0.999997	D	0.65815	0.995	P	0.60886	0.88	T	0.76761	-0.2840	10	0.87932	D	0	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	294	B7WPF4	.	Y	406;294	ENSP00000294383:S406Y;ENSP00000385700:S294Y	ENSP00000294383:S406Y	S	-	2	0	USP24	55397149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.605000	0.98321	2.709000	0.92574	0.591000	0.81541	TCT	USP24	-	superfamily_ARM-type_fold		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55624561	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55624561	G	T	55624561	3	4	131	1	0	0	0	0	1	0	0	0	17086	942	33	3	6881	3	USP24	1	55624561	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	54959	55624561	193626060	48	20188										
CACHD1	57685	genome.wustl.edu	37	chr1	65068492	65068492	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctcctattgtttcagattCgatgggaactttaataccaa	6	9	2	1	rs527836063		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65068492C>T	ENST00000371073.2	+	4	414	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.F87F			Q5VU97	CAHD1_HUMAN	cache domain containing 1	138					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTTTCAGATTCGATGGGAACT	0.378													C|||	1	0.000199681	0	0	5008	,	,		13731	0		0	False		,,,				2504	0.001																0													122	109	113					1																	65068492		1849	4087	5936	SO:0001819	synonymous_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.414C>T	1.37:g.65068492C>T			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.F138	ENST00000371073.2	37	c.414		1																																																																																			CACHD1	-	pfam_VWA_N		0.378	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65068492	1	no_errors	ENST00000371073	ensembl	human	known	70_37	silent	SNP	0.695	T	T	65068492	C	T	65068492	2	4	131	1	0	0	0	0	0	0	0	1	2542	883	31	1		1	CACHD1	1	65068492	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9443931	65068492	184182129	49	20189										
CACHD1	57685	genome.wustl.edu	37	chr1	65129402	65129402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcccaccatcatgctgtctgCtggcagcttttcctccccct	6	18	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65129402C>T	ENST00000371073.2	+	14	1976	c.1976C>T	c.(1975-1977)gCt>gTt	p.A659V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.A608V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	659					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGCTGTCTGCTGGCAGCTTT	0.537																																																	0													190	191	190					1																	65129402		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1976C>T	1.37:g.65129402C>T	ENSP00000360113:p.Ala659Val		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.A659V	ENST00000371073.2	37	c.1976		1	.	.	.	.	.	.	.	.	.	.	C	36	5.688819	0.96784	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26660	1.72;1.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.47190	1.495	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.01280	-1.1397	10	0.35671	T	0.21	-19.1015	19.733	0.96192	0.0:1.0:0.0:0.0	.	659	Q5VU97	CAHD1_HUMAN	V	659;608	ENSP00000360113:A659V;ENSP00000290039:A608V	ENSP00000290039:A608V	A	+	2	0	CACHD1	64901990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.665000	0.90641	0.585000	0.79938	GCT	CACHD1	-	NULL		0.537	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65129402	1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65129402	C	T	65129402	3	4	131	1	0	0	0	0	1	0	0	0	2542	797	28	4	1877	4	CACHD1	1	65129402	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	60910	65129402	184121219	50	20190										
CACHD1	57685	genome.wustl.edu	37	chr1	65139113	65139113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcttcagtgacagaacggTccagaggttttataaattca	9	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65139113T>C	ENST00000371073.2	+	19	2693	c.2693T>C	c.(2692-2694)gTc>gCc	p.V898A	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V847A			Q5VU97	CAHD1_HUMAN	cache domain containing 1	898					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACAGAACGGTCCAGAGGTTT	0.428																																																	0													132	129	130					1																	65139113		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2693T>C	1.37:g.65139113T>C	ENSP00000360113:p.Val898Ala		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.V898A	ENST00000371073.2	37	c.2693		1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023681	0.75390	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26660	1.72;1.73	4.84	4.84	0.62591	.	0.110120	0.64402	D	0.000009	T	0.32763	0.0840	M	0.61703	1.905	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.03231	-1.1058	10	0.34782	T	0.22	-24.2971	14.7091	0.69215	0.0:0.0:0.0:1.0	.	898	Q5VU97	CAHD1_HUMAN	A	898;847	ENSP00000360113:V898A;ENSP00000290039:V847A	ENSP00000290039:V847A	V	+	2	0	CACHD1	64911701	1.000000	0.71417	0.819000	0.32651	0.787000	0.44495	7.438000	0.80431	1.924000	0.55735	0.482000	0.46254	GTC	CACHD1	-	NULL		0.428	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		T	NM_020925		65139113	1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65139113	T	C	65139113	3	2	131	1	0	0	0	0	1	0	0	0	2542	1667	58	5	2614	5	CACHD1	1	65139113	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	9711	65139113	184111508	51	20191										
DNAJC6	9829	genome.wustl.edu	37	chr1	65831606	65831606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agacttcacttatgttacctCcagaattattggtaagtttc	6	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65831606C>A	ENST00000395325.3	+	3	369	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S58Y|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S128Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	71	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TATGTTACCTCCAGAATTATT	0.368																																																	0													224	221	222					1																	65831606		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.212C>A	1.37:g.65831606C>A	ENSP00000378735:p.Ser71Tyr		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.S128Y	ENST00000395325.3	37	c.383	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634985	0.87760	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98732	-5.1;-5.1;-5.1	5.44	5.44	0.79542	Phosphatase tensin type (1);	0.060815	0.64402	D	0.000002	D	0.99233	0.9733	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99764	1.1022	10	0.87932	D	0	.	19.2661	0.93985	0.0:1.0:0.0:0.0	.	128;71;58	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Y	58;71;128	ENSP00000263441:S58Y;ENSP00000378735:S71Y;ENSP00000360108:S128Y	ENSP00000263441:S58Y	S	+	2	0	DNAJC6	65604194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.507000	0.73717	2.555000	0.86185	0.557000	0.71058	TCC	DNAJC6	-	pfscan_Phosphatase_tensin-typ		0.368	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	C			65831606	1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65831606	C	A	65831606	3	1	131	1	0	0	0	0	1	0	0	0	4663	855	30	3	222	3	DNAJC6	1	65831606	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	692493	65831606	183419015	52	20192										
DNAJC6	9829	genome.wustl.edu	37	chr1	65878639	65878639	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccctatgaacaatacgcaaaGatgattttcatggagctcaa	7	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65878639G>T	ENST00000395325.3	+	19	2830	c.2673G>T	c.(2671-2673)aaG>aaT	p.K891N	DNAJC6_ENST00000263441.7_Missense_Mutation_p.K878N|RNU2-15P_ENST00000410692.1_RNA|DNAJC6_ENST00000371069.4_Missense_Mutation_p.K948N	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	891	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AATACGCAAAGATGATTTTCA	0.368																																																	0													169	172	171					1																	65878639		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2673G>T	1.37:g.65878639G>T	ENSP00000378735:p.Lys891Asn		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.K948N	ENST00000395325.3	37	c.2844	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598775	0.66332	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.22743	1.94;1.94;1.94	5.76	4.85	0.62838	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.35288	1.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	T	0.03051	-1.1078	10	0.52906	T	0.07	.	9.4202	0.38546	0.2124:0.0:0.7876:0.0	.	948;891	O75061-2;O75061	.;AUXI_HUMAN	N	878;891;948	ENSP00000263441:K878N;ENSP00000378735:K891N;ENSP00000360108:K948N	ENSP00000263441:K878N	K	+	3	2	DNAJC6	65651227	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.433000	0.73404	1.575000	0.49775	-0.136000	0.14681	AAG	DNAJC6	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N		0.368	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	G			65878639	1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65878639	G	T	65878639	3	4	131	1	0	0	0	0	1	0	0	0	4663	933	33	3	2747	3	DNAJC6	1	65878639	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	47033	65878639	183371982	53	20193										
LEPR	3953	genome.wustl.edu	37	chr1	66036405	66036405	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttcggagtgagcaagataGaaactgctccttatgtgcag	11	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:66036405G>T	ENST00000349533.6	+	4	475	c.290G>T	c.(289-291)aGa>aTa	p.R97I	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.R97I|LEPR_ENST00000371058.1_Missense_Mutation_p.R97I|LEPR_ENST00000371059.3_Missense_Mutation_p.R97I|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.R97I|snoU13_ENST00000459362.1_RNA	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R97I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGCAAGATAGAAACTGCTCC	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											81	81	81					1																	66036405		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.290G>T	1.37:g.66036405G>T	ENSP00000330393:p.Arg97Ile		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R97I	ENST00000349533.6	37	c.290	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	6.053	0.378052	0.11466	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.56;0.58;0.57;0.54;0.56	5.69	2.03	0.26663	.	0.677457	0.15206	N	0.274715	T	0.07369	0.0186	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.09377	0.0;0.0;0.001;0.004	T	0.16453	-1.0402	10	0.36615	T	0.2	-1.6603	2.3012	0.04162	0.598:0.1622:0.0847:0.1551	.	97;97;97;97	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	I	97	ENSP00000340884:R97I;ENSP00000330393:R97I;ENSP00000360099:R97I;ENSP00000360098:R97I;ENSP00000360097:R97I	ENSP00000340884:R97I	R	+	2	0	LEPR	65808993	0.049000	0.20398	0.793000	0.32043	0.106000	0.19336	-0.050000	0.11904	0.089000	0.17243	-1.394000	0.01149	AGA	LEPR	-	NULL		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	G	NM_002303		66036405	1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.969	T	T	66036405	G	T	66036405	3	4	131	1	0	0	0	0	1	0	0	0	8748	942	33	3	296	3	LEPR	1	66036405	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	157766	66036405	183214216	54	20194										
PDE4B	5142	genome.wustl.edu	37	chr1	66458699	66458699	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagcttccgagattaccagGaaacagacctacatctccta	7	12	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:66458699G>A	ENST00000329654.4	+	3	468				PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Missense_Mutation_p.G37E	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGATTACCAGGAAACAGACCT	0.413																																																	0													105	100	102					1																	66458699		2203	4300	6503	SO:0001627	intron_variant	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.281+74181G>A	1.37:g.66458699G>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.G37E	ENST00000329654.4	37	c.110	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911024	0.52439	.	.	ENSG00000184588	ENST00000423207	T	0.68025	-0.3	5.52	4.6	0.57074	.	.	.	.	.	T	0.68274	0.2983	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67229	-0.5723	9	0.29301	T	0.29	.	16.5352	0.84371	0.0:0.1307:0.8693:0.0	.	42	Q59GM8	.	E	37	ENSP00000392947:G37E	ENSP00000392947:G37E	G	+	2	0	PDE4B	66231287	1.000000	0.71417	0.989000	0.46669	0.417000	0.31264	6.804000	0.75186	1.557000	0.49525	0.650000	0.86243	GGA	PDE4B	-	NULL		0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66458699	1	no_errors	ENST00000423207	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66458699	G	A	66458699	1	1	131	0	1	0	0	0	0	0	0	0	11664	1174	41	1		1	PDE4B	1	66458699	Intron	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	422294	66458699	182791922	55	20195										
ANKRD13C	81573	genome.wustl.edu	37	chr1	70801747	70801747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatatttactaacctttatTtcctaacatcacagcaaggt	3	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:70801747T>G	ENST00000370944.4	-	2	779	c.466A>C	c.(466-468)Aat>Cat	p.N156H	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.N156H	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	156					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TAACCTTTATTTCCTAACATC	0.199																																																	0													4	4	4					1																	70801747		1674	3560	5234	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.466A>C	1.37:g.70801747T>G	ENSP00000359982:p.Asn156His		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N156H	ENST00000370944.4	37	c.466	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	T	1.757	-0.487770	0.04352	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.64618	-0.11;1.44	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.177545	0.64402	D	0.000012	T	0.14614	0.0353	N	0.03084	-0.415	0.32226	N	0.574617	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.08493	-1.0719	10	0.07644	T	0.81	.	9.4541	0.38745	0.0:0.0:0.1784:0.8216	.	156;156	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	H	156	ENSP00000359982:N156H;ENSP00000262346:N156H	ENSP00000262346:N156H	N	-	1	0	ANKRD13C	70574335	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.313000	0.51935	1.988000	0.58038	0.379000	0.24179	AAT	ANKRD13C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.199	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	T	NM_030816		70801747	-1	no_errors	ENST00000370944	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70801747	T	G	70801747	3	3	131	1	0	0	0	0	1	0	0	0	643	1841	64	5	1207	5	ANKRD13C	1	70801747	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4343048	70801747	178448874	56	20196										
LRRIQ3	127255	genome.wustl.edu	37	chr1	74492633	74492633	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaatttttcttcacaatgtCttttatatatttcttgagat	3	6	4	1	rs200301604		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:74492633C>A	ENST00000395089.1	-	7	1738	c.1739G>T	c.(1738-1740)aGa>aTa	p.R580I	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R580I			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	580										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCACAATGTCTTTTATATAT	0.284																																																	0													59	54	56					1																	74492633		1789	4052	5841	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1739G>T	1.37:g.74492633C>A	ENSP00000378524:p.Arg580Ile		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R580I	ENST00000395089.1	37	c.1739	CCDS41350.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.323|1.323	-0.599001|-0.599001	0.03744|0.03744	.|.	.|.	ENSG00000162620|ENSG00000162620	ENST00000417067|ENST00000395089;ENST00000354431	.|T;T	.|0.12879	.|2.64;2.64	5.05|5.05	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.03959|0.03959	0.0111|0.0111	L|L	0.29908|0.29908	0.895|0.895	0.31281|0.31281	N|N	0.690578|0.690578	.|P	.|0.48911	.|0.917	.|P	.|0.45037	.|0.467	T|T	0.34601|0.34601	-0.9822|-0.9822	6|9	0.87932|0.72032	D|D	0|0.01	.|.	4.8345|4.8345	0.13458|0.13458	0.0:0.4092:0.1533:0.4375|0.0:0.4092:0.1533:0.4375	.|.	.|580	.|A6PVS8	.|LRIQ3_HUMAN	Y|I	51|580	.|ENSP00000378524:R580I;ENSP00000346414:R580I	ENSP00000390376:D51Y|ENSP00000346414:R580I	D|R	-|-	1|2	0|0	LRRIQ3|LRRIQ3	74265221|74265221	0.336000|0.336000	0.24757|0.24757	0.784000|0.784000	0.31847|0.31847	0.062000|0.062000	0.15995|0.15995	-0.187000|-0.187000	0.09656|0.09656	-0.097000|-0.097000	0.12307|0.12307	-1.754000|-1.754000	0.00674|0.00674	GAC|AGA	LRRIQ3	-	NULL		0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	C	NM_145258		74492633	-1	no_errors	ENST00000354431	ensembl	human	known	70_37	missense	SNP	0.685	A	A	74492633	C	A	74492633	3	1	131	1	0	0	0	0	1	0	0	0	9053	913	32	3	139	3	LRRIQ3	1	74492633	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3690886	74492633	174757988	57	20197										
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	76877955	76877955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttatttggggacctttccGcaatatgaggaaagatggca	12	6	0	2	rs373383533		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:76877955G>A	ENST00000328299.3	+	3	624	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	159					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGACCTTTCCGCAATATGAGG	0.408																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	124	125	125		476,476	6.2	1	1		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ST6GALNAC3	NM_001160011.1,NM_152996.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	159/211,159/306	76877955	1,13005	2203	4300	6503	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.476G>A	1.37:g.76877955G>A	ENSP00000329214:p.Arg159His		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R159H	ENST00000328299.3	37	c.476	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954542	0.73902	0.0	1.16E-4	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.29655	1.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.64260	1.97	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.97;0.982	T	0.29701	-1.0003	10	0.51188	T	0.08	-27.2995	19.8676	0.96824	0.0:0.0:1.0:0.0	.	94;159;159	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	H	159;159;158;93	ENSP00000329214:R159H	ENSP00000329214:R159H	R	+	2	0	ST6GALNAC3	76650543	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CGC	ST6GALNAC3	-	pfam_Glyco_trans_29		0.408	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	G	NM_152996		76877955	1	no_errors	ENST00000328299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76877955	G	A	76877955	3	1	131	1	0	0	0	0	1	0	0	0	15255	1087	38	2	486	2	ST6GALNAC3	1	76877955	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2385322	76877955	172372666	58	20198										
FUBP1	8880	genome.wustl.edu	37	chr1	78428511	78428511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatctgttgtggagtgccacGaattgtaaataacttcatat	8	6	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:78428511G>A	ENST00000370768.2	-	14	1369	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	FUBP1_ENST00000370767.1_Missense_Mutation_p.R430C|FUBP1_ENST00000436586.2_Missense_Mutation_p.R451C	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	430	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAGTGCCACGAATTGTAAAT	0.368			"F, N"		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													120	115	116					1																	78428511		2203	4300	6503	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1288C>T	1.37:g.78428511G>A	ENSP00000359804:p.Arg430Cys		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.R451C	ENST00000370768.2	37	c.1351	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653647	0.47362	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.32753	1.44;1.44;1.44	5.67	4.75	0.60458	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64685	-0.6349	10	0.87932	D	0	-9.9778	16.4057	0.83669	0.0:0.0:0.8672:0.1328	.	451;430	B4DT31;Q96AE4	.;FUBP1_HUMAN	C	429;430;430;429;451	ENSP00000359803:R430C;ENSP00000359804:R430C;ENSP00000389536:R451C	ENSP00000294623:R429C	R	-	1	0	FUBP1	78201099	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	6.375000	0.73137	1.520000	0.48965	-0.169000	0.13324	CGT	FUBP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.368	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	G	NM_003902		78428511	-1	no_errors	ENST00000436586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78428511	G	A	78428511	3	1	131	1	0	0	0	0	1	0	0	0	6110	1058	37	1	674	1	FUBP1	1	78428511	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1550556	78428511	170822110	59	20199										
SYDE2	84144	genome.wustl.edu	37	chr1	85665949	85665949	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctacctgtcagcgtaattCtttggtctggaggcaccgac	10	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:85665949C>A	ENST00000341460.5	-	1	780	c.731G>T	c.(730-732)aGa>aTa	p.R244I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	244					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGCGTAATTCTTTGGTCTGG	0.522																																																	0													66	71	69					1																	85665949		2018	4178	6196	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.731G>T	1.37:g.85665949C>A	ENSP00000340594:p.Arg244Ile		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R244I	ENST00000341460.5	37	c.731	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808372	0.50421	.	.	ENSG00000097096	ENST00000341460	T	0.09163	3.01	5.68	5.68	0.88126	.	0.263653	0.37857	N	0.001916	T	0.21145	0.0509	M	0.70595	2.14	0.53688	D	0.999976	P;D	0.57571	0.938;0.98	P;P	0.56700	0.548;0.804	T	0.00406	-1.1759	10	0.87932	D	0	.	18.5703	0.91133	0.0:1.0:0.0:0.0	.	244;244	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	I	244	ENSP00000340594:R244I	ENSP00000340594:R244I	R	-	2	0	SYDE2	85438537	0.873000	0.30073	0.985000	0.45067	0.172000	0.22775	1.532000	0.36029	2.683000	0.91414	0.561000	0.74099	AGA	SYDE2	-	NULL		0.522	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	C			85665949	-1	no_errors	ENST00000341460	ensembl	human	known	70_37	missense	SNP	0.990	A	A	85665949	C	A	85665949	3	1	131	1	0	0	0	0	1	0	0	0	15466	913	32	3	2881	3	SYDE2	1	85665949	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7237438	85665949	163584672	60	20200										
COL24A1	255631	genome.wustl.edu	37	chr1	86487947	86487947	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccctgactttcctctcatCcctggtggtcctggtaaacc	9	15	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:86487947C>T	ENST00000370571.2	-	18	2598	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	COL24A1_ENST00000436319.1_Silent_p.G744G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	744	Collagen-like 4.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCTCTCATCCCTGGTGGTC	0.423																																																	0													104	103	104					1																	86487947		1857	4106	5963	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2232G>A	1.37:g.86487947C>T			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G744	ENST00000370571.2	37	c.2232	CCDS41353.1	1																																																																																			COL24A1	-	NULL		0.423	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86487947	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	silent	SNP	0.968	T	T	86487947	C	T	86487947	2	4	131	1	0	0	0	0	0	0	0	1	3688	842	30	1		1	COL24A1	1	86487947	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	821998	86487947	162762674	61	20201										
COL24A1	255631	genome.wustl.edu	37	chr1	86488648	86488648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaccataccattgggccagGaattccagcaggtccaattg	10	11	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:86488648G>T	ENST00000370571.2	-	15	2458	c.2092C>A	c.(2092-2094)Cct>Act	p.P698T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P698T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	698	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTGGGCCAGGAATTCCAGCA	0.393																																																	0													62	60	61					1																	86488648		1847	4086	5933	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2092C>A	1.37:g.86488648G>T	ENSP00000359603:p.Pro698Thr		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P698T	ENST00000370571.2	37	c.2092	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535057	0.45073	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98666	-5.06;-5.06	6.07	6.07	0.98685	.	0.000000	0.39407	N	0.001374	D	0.98639	0.9544	M	0.67517	2.055	0.54753	D	0.99998	P	0.51240	0.943	P	0.60012	0.867	D	0.97996	1.0357	10	0.25106	T	0.35	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	698	Q17RW2	COOA1_HUMAN	T	698	ENSP00000359603:P698T;ENSP00000392531:P698T	ENSP00000359603:P698T	P	-	1	0	COL24A1	86261236	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	4.698000	0.61789	2.885000	0.99019	0.655000	0.94253	CCT	COL24A1	-	NULL		0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	G	NM_152890		86488648	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86488648	G	T	86488648	3	4	131	1	0	0	0	0	1	0	0	0	3688	1174	41	3	3236	3	COL24A1	1	86488648	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	701	86488648	162761973	62	20202										
CLCA4	22802	genome.wustl.edu	37	chr1	87036839	87036839	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaggataacactgcaagttCttgtattgatgaagtgaaac	11	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:87036839C>A	ENST00000370563.3	+	8	1304	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000263723.5_Missense_Mutation_p.S134Y|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	421	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACTGCAAGTTCTTGTATTGAT	0.438																																																	0													279	266	270					1																	87036839		1955	4149	6104	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1262C>A	1.37:g.87036839C>A	ENSP00000359594:p.Ser421Tyr		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.S421Y	ENST00000370563.3	37	c.1262	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454654	0.63290	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.14766	2.48;2.48	6.17	-11.3	0.00108	von Willebrand factor, type A (3);	2.223410	0.01193	N	0.007371	T	0.17109	0.0411	M	0.83223	2.63	0.09310	N	1	D	0.55385	0.971	P	0.62491	0.903	T	0.47032	-0.9148	10	0.41790	T	0.15	-0.0342	11.6907	0.51514	0.4655:0.3877:0.1469:0.0	.	421	Q14CN2	CLCA4_HUMAN	Y	421;134	ENSP00000359594:S421Y;ENSP00000263723:S134Y	ENSP00000263723:S134Y	S	+	2	0	CLCA4	86809427	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.375000	0.00244	-1.756000	0.01318	-0.211000	0.12701	TCT	CLCA4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.438	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	C	NM_012128		87036839	1	no_errors	ENST00000370563	ensembl	human	known	70_37	missense	SNP	0.000	A	A	87036839	C	A	87036839	3	1	131	1	0	0	0	0	1	0	0	0	3464	913	32	3	1292	3	CLCA4	1	87036839	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	548191	87036839	162213782	63	20203										
GBP1	2633	genome.wustl.edu	37	chr1	89520802	89520802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactcactcctcaccttcaaTctccttttctttttctgtga	2	14	6	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:89520802T>C	ENST00000370473.4	-	9	1684	c.1465A>G	c.(1465-1467)Att>Gtt	p.I489V	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	489					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCACCTTCAATCTCCTTTTCT	0.403																																																	0													31	27	28					1																	89520802		2169	4256	6425	SO:0001583	missense	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1465A>G	1.37:g.89520802T>C	ENSP00000359504:p.Ile489Val		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.I489V	ENST00000370473.4	37	c.1465	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246247	0.22796	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02236	4.38	4.91	2.46	0.29980	Guanylate-binding protein, C-terminal (3);	0.423880	0.23756	N	0.044863	T	0.01092	0.0036	M	0.67397	2.05	0.25280	N	0.989445	B	0.06786	0.001	B	0.11329	0.006	T	0.46034	-0.9220	10	0.38643	T	0.18	.	7.9189	0.29835	0.0:0.18:0.0:0.82	.	489	P32455	GBP1_HUMAN	V	489;452	ENSP00000359504:I489V	ENSP00000359504:I489V	I	-	1	0	GBP1	89293390	0.572000	0.26668	0.662000	0.29724	0.689000	0.40095	0.682000	0.25335	0.195000	0.20347	0.402000	0.26972	ATT	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.403	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	T	NM_002053		89520802	-1	no_errors	ENST00000370473	ensembl	human	known	70_37	missense	SNP	0.989	C	C	89520802	T	C	89520802	3	2	131	1	0	0	0	0	1	0	0	0	6292	1435	50	5	325	5	GBP1	1	89520802	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2483963	89520802	159729819	64	20204										
ZNF644	84146	genome.wustl.edu	37	chr1	91406821	91406821	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagtaatatcggtgtttatCttcaaatcatccatattgtt	5	8	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:91406821C>A	ENST00000370440.1	-	3	307	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K30N			Q9H582	ZN644_HUMAN	zinc finger protein 644	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CGGTGTTTATCTTCAAATCAT	0.313																																																	0													120	129	126					1																	91406821		2203	4298	6501	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.90G>T	1.37:g.91406821C>A	ENSP00000359469:p.Lys30Asn		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K30N	ENST00000370440.1	37	c.90	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273289	0.40194	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00612	6.22;6.22	5.9	5.9	0.94986	.	0.075814	0.56097	D	0.000028	T	0.00412	0.0013	L	0.27053	0.805	0.41759	D	0.989707	P	0.38922	0.651	B	0.32677	0.15	T	0.80134	-0.1509	10	0.72032	D	0.01	-11.173	20.2787	0.98501	0.0:1.0:0.0:0.0	.	30	Q9H582	ZN644_HUMAN	N	30	ENSP00000359469:K30N;ENSP00000337008:K30N	ENSP00000337008:K30N	K	-	3	2	ZNF644	91179409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.161000	0.42358	2.798000	0.96311	0.650000	0.86243	AAG	ZNF644	-	NULL		0.313	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	C	NM_032186		91406821	-1	no_errors	ENST00000337393	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91406821	C	A	91406821	3	1	131	1	0	0	0	0	1	0	0	0	18090	912	32	3	3909	3	ZNF644	1	91406821	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1886019	91406821	157843800	65	20205										
MTF2	22823	genome.wustl.edu	37	chr1	93583965	93583965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttcatgaggcttgtgtgcaAtgccttcaaaagccaatgct	9	9	2	1	rs200173529		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:93583965A>G	ENST00000370298.4	+	7	985	c.696A>G	c.(694-696)caA>caG	p.Q232Q	MTF2_ENST00000545708.1_Silent_p.Q130Q|MTF2_ENST00000540243.1_Silent_p.Q130Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Silent_p.Q232Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	232					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTGTGTGCAATGCCTTCAAA	0.353																																																	0								A	,,,	1,4405	2.1+/-5.4	0,1,2202	89	89	89		390,696,390,696	5.2	1	1		89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTF2	NM_001164391.1,NM_001164392.1,NM_001164393.1,NM_007358.3	,,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,,,	130/492,232/537,130/492,232/594	93583965	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.696A>G	1.37:g.93583965A>G			A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q232	ENST00000370298.4	37	c.696	CCDS742.1	1																																																																																			MTF2	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.353	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	A	NM_007358		93583965	1	no_errors	ENST00000370298	ensembl	human	known	70_37	silent	SNP	1.000	G	G	93583965	A	G	93583965	2	3	131	1	0	0	0	0	0	0	0	1	9946	98	4	5		5	MTF2	1	93583965	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2177144	93583965	155666656	66	20206										
LRRC39	127495	genome.wustl.edu	37	chr1	100626100	100626100	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctcttagcttggttaagctTactcgttcttcccagatccg	7	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:100626100T>C	ENST00000370137.1	-	4	339	c.141A>G	c.(139-141)gtA>gtG	p.V47V	LRRC39_ENST00000370138.1_Silent_p.V47V|LRRC39_ENST00000342895.3_Silent_p.V47V	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	47										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGGTTAAGCTTACTCGTTCTT	0.358																																																	0													161	157	158					1																	100626100		2203	4300	6503	SO:0001819	synonymous_variant	127495			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.141A>G	1.37:g.100626100T>C			B3KUD2|D3DT56|Q5VVK7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V47	ENST00000370137.1	37	c.141	CCDS766.1	1																																																																																			LRRC39	-	NULL		0.358	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC39	HGNC	protein_coding	OTTHUMT00000029917.2	T	NM_144620		100626100	-1	no_errors	ENST00000370138	ensembl	human	known	70_37	silent	SNP	0.000	C	C	100626100	T	C	100626100	2	2	131	1	0	0	0	0	0	0	0	1	9018	1741	61	5		5	LRRC39	1	100626100	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	7042135	100626100	148624521	67	20207										
COL11A1	1301	genome.wustl.edu	37	chr1	103352442	103352442	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagtacccattggaaatttCatatgctcaatgtcttgttt	7	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:103352442C>A	ENST00000370096.3	-	63	5091	c.4779G>T	c.(4777-4779)atG>atT	p.M1593I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M1477I|COL11A1_ENST00000358392.2_Missense_Mutation_p.M1605I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M1554I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1593	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGAAATTTCATATGCTCAA	0.408																																																	0													192	185	187					1																	103352442		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4779G>T	1.37:g.103352442C>A	ENSP00000359114:p.Met1593Ile		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.M1605I	ENST00000370096.3	37	c.4815	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738766	0.49045	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.35593	1.075	0.80722	D	1	B;B;B;B;B	0.30326	0.021;0.106;0.234;0.276;0.017	B;B;B;B;B	0.29267	0.022;0.042;0.061;0.1;0.013	T	0.50039	-0.8874	10	0.24483	T	0.36	.	19.4555	0.94886	0.0:1.0:0.0:0.0	.	1477;1554;1605;1593;813	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	I	1593;1605;1554;813;1477	ENSP00000359114:M1593I;ENSP00000351163:M1605I;ENSP00000302551:M1554I;ENSP00000426533:M1477I	ENSP00000302551:M1554I	M	-	3	0	COL11A1	103125030	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.892000	0.63193	2.608000	0.88229	0.313000	0.20887	ATG	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C		0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103352442	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103352442	C	A	103352442	3	1	131	1	0	0	0	0	1	0	0	0	3672	826	29	3	661	3	COL11A1	1	103352442	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2726342	103352442	145898179	68	20208										
AMY2A	279	genome.wustl.edu	37	chr1	104160634	104160634	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttcagaccttggtgggaaaGataccaaccagttagctata	9	8	1	2	rs371720173		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:104160634G>T	ENST00000414303.2	+	2	291	c.227G>T	c.(226-228)aGa>aTa	p.R76I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	76					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TGGTGGGAAAGATACCAACCA	0.353																																																	0													170	155	160					1																	104160634		2201	4279	6480	SO:0001583	missense	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.227G>T	1.37:g.104160634G>T	ENSP00000397582:p.Arg76Ile		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R76I	ENST00000414303.2	37	c.227	CCDS783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.0|22.0	4.230811|4.230811	0.79688|0.79688	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.98437	.|-4.93	3.47|3.47	3.47|3.47	0.39725|0.39725	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99080|0.99080	0.9684|0.9684	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.99285|0.99285	1.0897|1.0897	5|10	.|0.87932	.|D	.|0	.|.	15.0729|15.0729	0.72053|0.72053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|76;76	.|B9EJG1;P04746	.|.;AMYP_HUMAN	N|I	74|76	.|ENSP00000397582:R76I	.|ENSP00000377509:R76I	K|R	+|+	3|2	2|0	AMY2A|AMY2A	103962157|103962157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.276000|9.276000	0.95745|0.95745	1.927000|1.927000	0.55829|0.55829	0.455000|0.455000	0.32223|0.32223	AAG|AGA	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	G	NM_000699		104160634	1	no_errors	ENST00000414303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104160634	G	T	104160634	3	4	131	1	0	0	0	0	1	0	0	0	594	942	33	3	233	3	AMY2A	1	104160634	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	808192	104160634	145089987	69	20209										
AKNAD1	254268	genome.wustl.edu	37	chr1	109391560	109391560	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcagttgatcagtctgttCtttcaacttctgacacatct	5	11	7	2	rs201193242		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:109391560C>A	ENST00000370001.3	-	4	1424	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	AKNAD1_ENST00000357393.4_Nonsense_Mutation_p.E93*|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E386*|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E386*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	386						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCAGTCTGTTCTTTCAACTTC	0.343																																																	0													88	93	91					1																	109391560		2203	4300	6503	SO:0001587	stop_gained	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1156G>T	1.37:g.109391560C>A	ENSP00000359018:p.Glu386*		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.E386*	ENST00000370001.3	37	c.1156	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.858188	0.97036	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	.	.	.	5.45	5.45	0.79879	.	0.222920	0.39834	N	0.001258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-21.472	12.6185	0.56590	0.0:0.923:0.0:0.077	.	.	.	.	X	386;93;386;386	.	ENSP00000349968:E93X	E	-	1	0	AKNAD1	109193083	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	3.262000	0.51538	2.716000	0.92895	0.655000	0.94253	GAA	AKNAD1	-	pfam_TF_AT-hook		0.343	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	C	NM_152763		109391560	-1	no_errors	ENST00000370001	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	109391560	C	A	109391560	4	1	131	1	0	0	0	0	0	1	0	0	464	922	32	3	1406	3	AKNAD1	1	109391560	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5230926	109391560	139859061	70	20210										
SORT1	6272	genome.wustl.edu	37	chr1	109869778	109869778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actgagatggcatcccccacGctacctgcaatataatccac	6	15	0	1	rs368640868		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:109869778G>A	ENST00000256637.6	-	13	1537	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	SORT1_ENST00000538502.1_Silent_p.S356S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	493					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATCCCCCACGCTACCTGCAA	0.428																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	109	100	103		1068,1479	-2.7	1	1		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SORT1	NM_001205228.1,NM_002959.5	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	356/695,493/832	109869778	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1479C>T	1.37:g.109869778G>A			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.S493	ENST00000256637.6	37	c.1479	CCDS798.1	1																																																																																			SORT1	-	smart_VPS10		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	G	NM_002959		109869778	-1	no_errors	ENST00000256637	ensembl	human	known	70_37	silent	SNP	0.851	A	A	109869778	G	A	109869778	2	1	131	1	0	0	0	0	0	0	0	1	14965	1078	38	2		2	SORT1	1	109869778	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	478218	109869778	139380843	71	20211										
EPS8L3	79574	genome.wustl.edu	37	chr1	110295775	110295775	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaagttgccagtcatctgaGaatgtgggttggtagggcag	17	5	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:110295775G>T	ENST00000361965.4	-	13	1270	c.1164C>A	c.(1162-1164)ttC>ttA	p.F388L	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.F388L|EPS8L3_ENST00000369805.3_Missense_Mutation_p.F389L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	388						cytoplasm (GO:0005737)		p.F389L(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGTCATCTGAGAATGTGGGTT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											101	97	98					1																	110295775		2203	4300	6503	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1164C>A	1.37:g.110295775G>T	ENSP00000355255:p.Phe388Leu		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.F389L	ENST00000361965.4	37	c.1167	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	G	3.366	-0.129543	0.06753	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;D	0.81659	1.55;-1.49;-1.52	4.45	1.52	0.23074	.	0.050329	0.85682	D	0.000000	T	0.73401	0.3582	M	0.87682	2.9	0.54753	D	0.999989	P;P;P;B	0.45986	0.544;0.87;0.855;0.041	B;B;B;B	0.42282	0.259;0.377;0.382;0.016	T	0.74396	-0.3679	10	0.72032	D	0.01	-13.8451	8.5408	0.33390	0.2859:0.0:0.7141:0.0	.	388;388;388;389	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	L	388;389;388	ENSP00000354551:F388L;ENSP00000358820:F389L;ENSP00000355255:F388L	ENSP00000354551:F388L	F	-	3	2	EPS8L3	110097298	1.000000	0.71417	0.804000	0.32291	0.008000	0.06430	1.842000	0.39250	0.250000	0.21479	-1.786000	0.00637	TTC	EPS8L3	-	NULL		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	G	NM_024526		110295775	-1	no_errors	ENST00000369805	ensembl	human	known	70_37	missense	SNP	0.733	T	T	110295775	G	T	110295775	3	4	131	1	0	0	0	0	1	0	0	0	5209	933	33	3	645	3	EPS8L3	1	110295775	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	425997	110295775	138954846	72	20212										
KCNA10	3744	genome.wustl.edu	37	chr1	111060775	111060775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccacagcacgggcagcgctgGaactttcagggtactcaaag	12	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:111060775G>A	ENST00000369771.2	-	1	1022	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	212					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.S212F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GGCAGCGCTGGAACTTTCAGG	0.557																																																	1	Substitution - Missense(1)	skin(1)											104	105	105					1																	111060775		2203	4300	6503	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.635C>T	1.37:g.111060775G>A	ENSP00000358786:p.Ser212Phe			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S212F	ENST00000369771.2	37	c.635	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439385	0.43326	.	.	ENSG00000143105	ENST00000369771	T	0.68181	-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	H	0.94847	3.59	0.80722	D	1	D	0.69078	0.997	P	0.57620	0.824	D	0.87338	0.2329	10	0.87932	D	0	.	18.895	0.92420	0.0:0.0:1.0:0.0	.	212	Q16322	KCA10_HUMAN	F	212	ENSP00000358786:S212F	ENSP00000358786:S212F	S	-	2	0	KCNA10	110862298	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	TCC	KCNA10	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA10	HGNC	protein_coding	OTTHUMT00000059081.1	G	NM_005549		111060775	-1	no_errors	ENST00000369771	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111060775	G	A	111060775	3	1	131	1	0	0	0	0	1	0	0	0	8022	1174	41	1	904	1	KCNA10	1	111060775	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	765000	111060775	138189846	73	20213										
C1orf88	128344	genome.wustl.edu	37	chr1	111893946	111893946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacctaagcctgtattataaTtgagcggctgtaactacctt	7	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:111893946T>G	ENST00000369738.4	+	6	938	c.573T>G	c.(571-573)aaT>aaG	p.N191K	PIFO_ENST00000369737.4_Missense_Mutation_p.N158K|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	191					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										TGTATTATAATTGAGCGGCTG	0.453																																																	0													117	103	108					1																	111893946		2203	4300	6503	SO:0001583	missense	128344			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"chromosome 1 open reading frame 88"	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.573T>G	1.37:g.111893946T>G	ENSP00000358753:p.Asn191Lys		D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	NULL	p.N191K	ENST00000369738.4	37	c.573	CCDS833.1	1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700799	0.48307	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.32753	1.86;1.44	5.82	-11.6	0.00059	.	0.890849	0.09741	N	0.761856	T	0.05456	0.0144	L	0.31294	0.92	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.14578	0.011;0.011	T	0.34502	-0.9826	10	0.62326	D	0.03	.	9.3018	0.37851	0.0858:0.152:0.0848:0.6774	.	158;191	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	K	191;158	ENSP00000358753:N191K;ENSP00000358752:N158K	ENSP00000358752:N158K	N	+	3	2	C1orf88	111695469	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-1.275000	0.02817	-3.657000	0.00125	-0.468000	0.05107	AAT	PIFO	-	NULL		0.453	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIFO	HGNC	protein_coding	OTTHUMT00000030718.1	T	NM_181643		111893946	1	no_errors	ENST00000369738	ensembl	human	known	70_37	missense	SNP	0.000	G	G	111893946	T	G	111893946	3	3	131	1	0	0	0	0	1	0	0	0	2070	1490	52	5	595	5	C1orf88	1	111893946	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	833171	111893946	137356675	74	20214										
RAP1A	5906	genome.wustl.edu	37	chr1	112247085	112247085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctttttagaatcttctgcaAagtcaaagatcaatgttaat	5	7	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:112247085A>G	ENST00000369709.3	+	6	624	c.445A>G	c.(445-447)Aag>Gag	p.K149E	RAP1A_ENST00000436150.2_Missense_Mutation_p.K149E|RAP1A_ENST00000356415.1_Missense_Mutation_p.K149E|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.K149E	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	149					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		ATCTTCTGCAAAGTCAAAGAT	0.403																																																	0													91	85	87					1																	112247085		2203	4300	6503	SO:0001583	missense	5906			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.445A>G	1.37:g.112247085A>G	ENSP00000358723:p.Lys149Glu		P10113	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K149E	ENST00000369709.3	37	c.445	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.106904	0.94292	.	.	ENSG00000116473	ENST00000356415;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.93763	3.455	0.80722	D	1	P	0.40431	0.717	P	0.55455	0.776	D	0.89136	0.3513	10	0.87932	D	0	.	16.0245	0.80532	1.0:0.0:0.0:0.0	.	149	P62834	RAP1A_HUMAN	E	149	ENSP00000348786:K149E;ENSP00000358723:K149E;ENSP00000394318:K149E;ENSP00000443009:K149E	ENSP00000348786:K149E	K	+	1	0	RAP1A	112048608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.266000	0.75297	0.533000	0.62120	AAG	RAP1A	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.403	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	HGNC	protein_coding	OTTHUMT00000033071.1	A	NM_002884		112247085	1	no_errors	ENST00000356415	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112247085	A	G	112247085	3	3	131	1	0	0	0	0	1	0	0	0	13065	15	1	5	463	5	RAP1A	1	112247085	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	353139	112247085	137003536	75	20215										
MOV10	4343	genome.wustl.edu	37	chr1	113217660	113217660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggaccatttataaccgcgaCttcaagatcaggtacgggcc	10	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:113217660C>A	ENST00000413052.2	+	2	516	c.126C>A	c.(124-126)gaC>gaA	p.D42E	MOV10_ENST00000357443.2_Missense_Mutation_p.D42E|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.D42E|MOV10_ENST00000369645.1_Missense_Mutation_p.D42E|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	42					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATAACCGCGACTTCAAGATCA	0.682																																																	0													33	41	38					1																	113217660		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.126C>A	1.37:g.113217660C>A	ENSP00000399797:p.Asp42Glu		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.D42E	ENST00000413052.2	37	c.126	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494557	0.12702	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443;ENST00000369648	D;D;D	0.90069	-2.61;-2.61;-2.61	4.39	1.32	0.21799	.	0.410473	0.28809	N	0.014066	T	0.49321	0.1550	N	0.14661	0.345	0.28950	N	0.890445	B;B	0.14012	0.001;0.009	B;B	0.06405	0.002;0.002	T	0.45920	-0.9228	10	0.02654	T	1	-8.3214	4.5129	0.11921	0.1442:0.4905:0.2812:0.0842	.	42;42	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	E	42;42;42;42;42;15	ENSP00000399797:D42E;ENSP00000358659:D42E;ENSP00000350028:D42E	ENSP00000285733:D42E	D	+	3	2	MOV10	113019183	0.997000	0.39634	0.885000	0.34714	0.995000	0.86356	0.398000	0.20899	0.176000	0.19873	0.561000	0.74099	GAC	MOV10	-	NULL		0.682	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	C	NM_020963		113217660	1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	0.989	A	A	113217660	C	A	113217660	3	1	131	1	0	0	0	0	1	0	0	0	9741	564	20	4	128	4	MOV10	1	113217660	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	970575	113217660	136032961	76	20216										
MAGI3	260425	genome.wustl.edu	37	chr1	114128120	114128120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcagaatctcaaagaaaacGaacgacatctgtcagcaaga	8	9	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:114128120G>A	ENST00000307546.9	+	4	740	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	MAGI3_ENST00000369615.1_Missense_Mutation_p.R222Q|MAGI3_ENST00000369611.4_Missense_Mutation_p.R222Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.R222Q	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	222	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAGAAAACGAACGACATCT	0.458																																																	0													90	87	88					1																	114128120		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.665G>A	1.37:g.114128120G>A	ENSP00000304604:p.Arg222Gln		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R222Q	ENST00000307546.9	37	c.665	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.836813	0.97009	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.23754	2.17;1.89;2.18;2.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.996	T	0.47522	-0.9111	10	0.87932	D	0	-23.4486	20.3559	0.98840	0.0:0.0:1.0:0.0	.	222;222;222	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	Q	222	ENSP00000358630:R222Q;ENSP00000304604:R222Q;ENSP00000358628:R222Q;ENSP00000358624:R222Q	ENSP00000304604:R222Q	R	+	2	0	MAGI3	113929643	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	CGA	MAGI3	-	smart_Guanylate_kin/L-typ_Ca_channel		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114128120	1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114128120	G	A	114128120	3	1	131	1	0	0	0	0	1	0	0	0	9215	1058	37	1	679	1	MAGI3	1	114128120	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	910460	114128120	135122501	77	20217										
TTF2	8458	genome.wustl.edu	37	chr1	117620614	117620614	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcaactgcatcgctcactTgagtcatgtcctggtgagac	11	11	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:117620614T>C	ENST00000369466.4	+	8	1694	c.1650T>C	c.(1648-1650)ctT>ctC	p.L550L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	550					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATCGCTCACTTGAGTCATGTC	0.517																																																	0													198	154	169					1																	117620614		2203	4300	6503	SO:0001819	synonymous_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1650T>C	1.37:g.117620614T>C			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L550	ENST00000369466.4	37	c.1650	CCDS892.1	1																																																																																			TTF2	-	NULL		0.517	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	T			117620614	1	no_errors	ENST00000369466	ensembl	human	known	70_37	silent	SNP	0.980	C	C	117620614	T	C	117620614	2	2	131	1	0	0	0	0	0	0	0	1	16750	1799	63	5		5	TTF2	1	117620614	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3492494	117620614	131630007	78	20218										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144952346	144952346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccaccagagctgccatccGcgcagcttcattctttgcta	7	15	2	1	rs150616778		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:144952346G>A	ENST00000369354.3	-	4	562	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R125W|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.R125W|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R262W|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R125W|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R262W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R262W|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R125W|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R191W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	125					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGCCATCCGCGCAGCTTCA	0.488			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													10	11	11					1																	144952346		2105	4173	6278	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.373C>T	1.37:g.144952346G>A	ENSP00000358360:p.Arg125Trp		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R125W	ENST00000369354.3	37	c.373	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	8.843	0.942817	0.18281	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	T;T;T;T;T;T;T;T;T;T;T	0.35421	4.6;4.73;4.71;4.71;4.7;3.74;3.74;1.74;1.74;2.96;1.31	4.78	1.8	0.24995	.	.	.	.	.	T	0.33118	0.0852	L	0.56769	1.78	0.24957	N	0.991751	B;D;D	0.89917	0.015;1.0;0.998	B;D;P	0.69307	0.005;0.963;0.634	T	0.09185	-1.0686	9	0.87932	D	0	.	4.7987	0.13284	0.0851:0.1488:0.6123:0.1538	.	125;191;125	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	W	191;125;125;262;262;125;125;191;128;125;262;48	ENSP00000327209:R191W;ENSP00000358360:R125W;ENSP00000358363:R125W;ENSP00000435654:R262W;ENSP00000358366:R262W;ENSP00000358357:R125W;ENSP00000358355:R125W;ENSP00000435920:R128W;ENSP00000358353:R125W;ENSP00000358354:R262W;ENSP00000437202:R48W	ENSP00000327209:R191W	R	-	1	2	PDE4DIP	143663703	0.000000	0.05858	0.106000	0.21319	0.813000	0.45954	0.265000	0.18515	0.205000	0.20568	0.561000	0.74099	CGG	PDE4DIP	-	NULL		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144952346	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.257	A	A	144952346	G	A	144952346	3	1	131	1	0	0	0	0	1	0	0	0	11667	1086	38	2	7974	2	PDE4DIP	1	144952346	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	27331732	144952346	104298275	79	20219										
FMO5	2330	genome.wustl.edu	37	chr1	146680530	146680530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catataaaatgtgtaagtcgAgaagagaacaacacatcagc	8	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:146680530A>G	ENST00000254090.4	-	6	1102	c.714T>C	c.(712-714)tcT>tcC	p.S238S	RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.S238S|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Silent_p.S238S	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	238						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTGTAAGTCGAGAAGAGAACA	0.428																																																	0													103	96	98					1																	146680530		2203	4300	6503	SO:0001819	synonymous_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.714T>C	1.37:g.146680530A>G			B2RBG1|C9JJD1|Q8IV22	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.S238	ENST00000254090.4	37	c.714	CCDS926.1	1																																																																																			FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_5		0.428	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	A	NM_001461		146680530	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	silent	SNP	0.013	G	G	146680530	A	G	146680530	2	3	131	1	0	0	0	0	0	0	0	1	5976	291	11	5		5	FMO5	1	146680530	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1728184	146680530	102570091	80	20220										
CHD1L	9557	genome.wustl.edu	37	chr1	146756159	146756159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaagagggccgatcactccGaaataaaggcagtgtaagaa	11	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:146756159G>A	ENST00000369258.4	+	16	1861	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.R333Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R520Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.R410Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	614					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CGATCACTCCGAAATAAAGGC	0.358																																																	0													79	81	80					1																	146756159		2203	4300	6503	SO:0001583	missense	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1841G>A	1.37:g.146756159G>A	ENSP00000358262:p.Arg614Gln		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R614Q	ENST00000369258.4	37	c.1841	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893188	0.91889	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89617	-2.54;-1.4;-2.43;-1.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.75020	0.982;0.985;0.899	D	0.90273	0.4309	10	0.35671	T	0.21	.	16.144	0.81551	0.0:0.0:1.0:0.0	.	520;410;614	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	520;410;614;333	ENSP00000389031:R520Q;ENSP00000358263:R410Q;ENSP00000358262:R614Q;ENSP00000355100:R333Q	ENSP00000355100:R333Q	R	+	2	0	CHD1L	145222783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.065000	0.89485	2.884000	0.98904	0.655000	0.94253	CGA	CHD1L	-	NULL		0.358	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	G	NM_004284		146756159	1	no_errors	ENST00000369258	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146756159	G	A	146756159	3	1	131	1	0	0	0	0	1	0	0	0	3329	1058	37	1	1903	1	CHD1L	1	146756159	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	75629	146756159	102494462	81	20221										
RFX5	5993	genome.wustl.edu	37	chr1	151315475	151315475	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggggccagaataggtggagaGactgggattggcggaattag	19	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:151315475G>T	ENST00000290524.4	-	11	1216	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	RFX5_ENST00000452513.2_Silent_p.V306V|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Silent_p.V346V|RFX5_ENST00000368870.2_Silent_p.V346V	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	346					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGGTGGAGAGACTGGGATTG	0.627																																																	0													28	34	32					1																	151315475		2201	4300	6501	SO:0001819	synonymous_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1038C>A	1.37:g.151315475G>T			B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	pfam_DNA-bd_RFX	p.V346	ENST00000290524.4	37	c.1038	CCDS994.1	1																																																																																			RFX5	-	NULL		0.627	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	G	NM_000449		151315475	-1	no_errors	ENST00000290524	ensembl	human	known	70_37	silent	SNP	0.997	T	T	151315475	G	T	151315475	2	4	131	1	0	0	0	0	0	0	0	1	13296	929	33	3		3	RFX5	1	151315475	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4559316	151315475	97935146	82	20222										
SNX27	81609	genome.wustl.edu	37	chr1	151665923	151665923	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattacatgcatgagtgcttCgagagggtgttctgcgagct	13	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:151665923C>T	ENST00000458013.2	+	11	1662	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	SNX27_ENST00000368838.1_Silent_p.F421F|SNX27_ENST00000368843.3_Silent_p.F514F			Q96L92	SNX27_HUMAN	sorting nexin family member 27	514	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGAGTGCTTCGAGAGGGTGT	0.418																																					Colon(46;291 966 40145 41237 41888)												0													171	154	160					1																	151665923		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1542C>T	1.37:g.151665923C>T			Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.F514	ENST00000458013.2	37	c.1542		1																																																																																			SNX27	-	NULL		0.418	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	C	NM_030918		151665923	1	no_errors	ENST00000368843	ensembl	human	known	70_37	silent	SNP	0.993	T	T	151665923	C	T	151665923	2	4	131	1	0	0	0	0	0	0	0	1	14927	883	31	1		1	SNX27	1	151665923	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	350448	151665923	97584698	83	20223										
TCHH	7062	genome.wustl.edu	37	chr1	152081445	152081445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctgctgttcctcctcgcgGaattttctgtcgcggtcctg	11	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152081445G>T	ENST00000368804.1	-	2	4247	c.4248C>A	c.(4246-4248)ttC>ttA	p.F1416L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1416	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGCGGAATTTTCTGT	0.587																																																	0													64	67	66					1																	152081445		1889	4107	5996	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4248C>A	1.37:g.152081445G>T	ENSP00000357794:p.Phe1416Leu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.F1416L	ENST00000368804.1	37	c.4248	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.016959	0.35606	.	.	ENSG00000159450	ENST00000368804	T	0.03772	3.81	3.78	0.749	0.18381	.	.	.	.	.	T	0.00815	0.0027	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.47849	-0.9085	9	0.07990	T	0.79	.	2.9854	0.05966	0.3293:0.0:0.4699:0.2008	.	1416	Q07283	TRHY_HUMAN	L	1416	ENSP00000357794:F1416L	ENSP00000357794:F1416L	F	-	3	2	TCHH	150348069	0.000000	0.05858	0.019000	0.16419	0.523000	0.34469	-0.086000	0.11233	0.579000	0.29504	0.460000	0.39030	TTC	TCHH	-	NULL		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	G	NM_007113		152081445	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.003	T	T	152081445	G	T	152081445	3	4	131	1	0	0	0	0	1	0	0	0	15730	1165	41	3	1587	3	TCHH	1	152081445	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	415522	152081445	97169176	84	20224										
FLG2	388698	genome.wustl.edu	37	chr1	152326402	152326402	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgaatgtgttctgaatgtCtgtgtgagacctttgagtgc	13	5	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152326402C>T	ENST00000388718.5	-	3	3932	c.3860G>A	c.(3859-3861)aGa>aAa	p.R1287K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1287	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAATGTCTGTGTGAGAC	0.473																																																	0													442	395	411					1																	152326402		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3860G>A	1.37:g.152326402C>T	ENSP00000373370:p.Arg1287Lys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R1287K	ENST00000388718.5	37	c.3860	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782149	0.31502	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.26	-0.0873	0.13677	.	.	.	.	.	T	0.01730	0.0055	L	0.49126	1.545	0.09310	N	1	B	0.24576	0.106	B	0.28232	0.087	T	0.48352	-0.9043	9	0.05833	T	0.94	-1.9022	5.6544	0.17635	0.0:0.4641:0.4133:0.1227	.	1287	Q5D862	FILA2_HUMAN	K	1287	ENSP00000373370:R1287K	ENSP00000373370:R1287K	R	-	2	0	FLG2	150593026	0.003000	0.15002	0.001000	0.08648	0.324000	0.28378	0.394000	0.20834	-0.113000	0.11958	0.196000	0.17591	AGA	FLG2	-	NULL		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152326402	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.003	T	T	152326402	C	T	152326402	3	4	131	1	0	0	0	0	1	0	0	0	5941	913	32	1	3319	1	FLG2	1	152326402	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	244957	152326402	96924219	85	20225										
FLG2	388698	genome.wustl.edu	37	chr1	152328935	152328935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagccacatacatgttgttCgaacccagaggactgactca	9	11	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152328935C>T	ENST00000388718.5	-	3	1399	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	443	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATGTTGTTCGAACCCAGAG	0.448																																																	0													168	160	163					1																	152328935		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1327G>A	1.37:g.152328935C>T	ENSP00000373370:p.Glu443Lys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E443K	ENST00000388718.5	37	c.1327	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580373	0.03854	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	2.88	-4.05	0.03998	.	.	.	.	.	T	0.01387	0.0045	N	0.04508	-0.205	0.09310	N	1	B	0.23058	0.079	B	0.06405	0.002	T	0.42832	-0.9428	9	0.06757	T	0.87	.	4.202	0.10471	0.0:0.2999:0.3321:0.368	.	443	Q5D862	FILA2_HUMAN	K	443	ENSP00000373370:E443K	ENSP00000373370:E443K	E	-	1	0	FLG2	150595559	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.008000	0.03663	-0.922000	0.03789	0.561000	0.74099	GAA	FLG2	-	NULL		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152328935	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152328935	C	T	152328935	3	4	131	1	0	0	0	0	1	0	0	0	5941	893	31	1	5852	1	FLG2	1	152328935	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2533	152328935	96921686	86	20226										
LCE1D	353134	genome.wustl.edu	37	chr1	152770355	152770355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagtgccccgcccctaaaTgtccccctaagtgccctcca	6	20	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152770355T>C	ENST00000326233.6	+	2	128	c.85T>C	c.(85-87)Tgt>Cgt	p.C29R		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCCCCTAAATGTCCCCCTAA	0.652																																																	0													45	46	45					1																	152770355		2099	3876	5975	SO:0001583	missense	353134				CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.85T>C	1.37:g.152770355T>C	ENSP00000316737:p.Cys29Arg			Missense_Mutation	SNP	NULL	p.C29R	ENST00000326233.6	37	c.85	CCDS1025.1	1	.	.	.	.	.	.	.	.	.	.	T	0.381	-0.928787	0.02359	.	.	ENSG00000172155	ENST00000326233	T	0.04551	3.6	3.2	2.0	0.26442	.	0.205046	0.24722	N	0.036140	T	0.09642	0.0237	M	0.85630	2.765	0.23969	N	0.996318	D	0.69078	0.997	D	0.78314	0.991	T	0.06409	-1.0828	10	0.87932	D	0	.	6.2635	0.20913	0.0:0.0:0.2587:0.7413	.	29	Q5T752	LCE1D_HUMAN	R	29	ENSP00000316737:C29R	ENSP00000316737:C29R	C	+	1	0	LCE1D	151036979	0.987000	0.35691	0.190000	0.23270	0.255000	0.26057	2.123000	0.41996	0.388000	0.25054	0.454000	0.30748	TGT	LCE1D	-	NULL		0.652	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1D	HGNC	protein_coding	OTTHUMT00000034657.2	T	NM_178352		152770355	1	no_errors	ENST00000326233	ensembl	human	known	70_37	missense	SNP	0.236	C	C	152770355	T	C	152770355	3	2	131	1	0	0	0	0	1	0	0	0	8682	1464	51	5	87	5	LCE1D	1	152770355	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	441420	152770355	96480266	87	20227										
IVL	3713	genome.wustl.edu	37	chr1	152882447	152882447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagtggaggtcccatcaaaGcaagaggaaaagcacatgac	11	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152882447G>T	ENST00000368764.3	+	2	238	c.174G>T	c.(172-174)aaG>aaT	p.K58N	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	58					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCATCAAAGCAAGAGGAAA	0.547																																																	0													84	79	81					1																	152882447		2203	4300	6503	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.174G>T	1.37:g.152882447G>T	ENSP00000357753:p.Lys58Asn		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.K58N	ENST00000368764.3	37	c.174	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899800	0.33535	.	.	ENSG00000163207	ENST00000368764	T	0.09817	2.94	5.3	0.294	0.15747	Involucrin, N-terminal (1);	.	.	.	.	T	0.03390	0.0098	L	0.55481	1.735	0.09310	N	1	B	0.25850	0.136	B	0.27262	0.078	T	0.41179	-0.9523	9	0.48119	T	0.1	-0.3944	4.3966	0.11365	0.2455:0.3399:0.4146:0.0	.	58	P07476	INVO_HUMAN	N	58	ENSP00000357753:K58N	ENSP00000357753:K58N	K	+	3	2	IVL	151149071	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.419000	0.21247	0.099000	0.17552	0.561000	0.74099	AAG	IVL	-	pfam_Involucrin_N		0.547	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	G	NM_005547		152882447	1	no_errors	ENST00000368764	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152882447	G	T	152882447	3	4	131	1	0	0	0	0	1	0	0	0	7949	962	34	4	176	4	IVL	1	152882447	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	112092	152882447	96368174	88	20228										
INTS3	65123	genome.wustl.edu	37	chr1	153737475	153737475	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctctctacttctagaccttCtctccgagctatatcagaag	5	13	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:153737475C>A	ENST00000318967.2	+	20	2594	c.2026C>A	c.(2026-2028)Ctc>Atc	p.L676I	INTS3_ENST00000435409.2_Missense_Mutation_p.L676I|INTS3_ENST00000512605.1_Missense_Mutation_p.L470I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Missense_Mutation_p.L470I	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	677					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTAGACCTTCTCTCCGAGCT	0.527																																																	0													228	211	217					1																	153737475		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2026C>A	1.37:g.153737475C>A	ENSP00000318641:p.Leu676Ile		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.L676I	ENST00000318967.2	37	c.2026	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499229	0.64298	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.91	3.97	0.46021	.	0.000000	0.64402	D	0.000006	T	0.35335	0.0928	L	0.47716	1.5	0.43069	D	0.994709	P;B;P	0.41102	0.738;0.363;0.738	B;B;B	0.42593	0.392;0.096;0.196	T	0.41752	-0.9491	9	0.72032	D	0.01	.	9.2687	0.37657	0.0:0.8999:0.0:0.1001	.	470;677;676	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	I	676;470;676;470	.	ENSP00000318641:L676I	L	+	1	0	INTS3	152004099	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.070000	0.30653	2.540000	0.85666	0.563000	0.77884	CTC	INTS3	-	NULL		0.527	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	C	NM_023015		153737475	1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153737475	C	A	153737475	3	1	131	1	0	0	0	0	1	0	0	0	7799	913	32	3	2104	3	INTS3	1	153737475	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	855028	153737475	95513146	89	20229										
UBAP2L	9898	genome.wustl.edu	37	chr1	154221753	154221753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatttggtgatgtcggtgaAgctaaaggcggcagtactac	15	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154221753A>C	ENST00000361546.2	+	11	1095	c.1053A>C	c.(1051-1053)gaA>gaC	p.E351D	UBAP2L_ENST00000428931.1_Missense_Mutation_p.E351D|UBAP2L_ENST00000271877.7_Missense_Mutation_p.E362D|UBAP2L_ENST00000343815.6_Missense_Mutation_p.E351D			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	351					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCGGTGAAGCTAAAGGCG	0.488																																																	0													149	142	145					1																	154221753		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1053A>C	1.37:g.154221753A>C	ENSP00000355343:p.Glu351Asp		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E351D	ENST00000361546.2	37	c.1053	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940876	0.34283	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.12255	2.7;2.71;2.7;2.71	5.5	1.98	0.26296	.	0.159998	0.56097	D	0.000039	T	0.01627	0.0052	N	0.03115	-0.41	0.35165	D	0.771021	B;B;B;B;B	0.15719	0.002;0.014;0.003;0.003;0.002	B;B;B;B;B	0.20955	0.002;0.032;0.007;0.007;0.003	T	0.46148	-0.9212	10	0.20519	T	0.43	-7.3468	7.9589	0.30060	0.5777:0.0:0.4223:0.0	.	265;362;344;351;351	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	D	351;351;362;351	ENSP00000345308:E351D;ENSP00000389445:E351D;ENSP00000271877:E362D;ENSP00000355343:E351D	ENSP00000271877:E362D	E	+	3	2	UBAP2L	152488377	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	1.006000	0.29847	0.180000	0.19960	0.533000	0.62120	GAA	UBAP2L	-	NULL		0.488	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	A	NM_014847		154221753	1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	0.988	C	C	154221753	A	C	154221753	3	2	131	1	0	0	0	0	1	0	0	0	16869	69	3	5	1095	5	UBAP2L	1	154221753	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	484278	154221753	95028868	90	20230										
ATP8B2	57198	genome.wustl.edu	37	chr1	154319136	154319136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctggacggccatcaaccactTcttcatctggggaagccttg	10	13	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154319136T>A	ENST00000368489.3	+	26	3164	c.3164T>A	c.(3163-3165)tTc>tAc	p.F1055Y		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1041					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCAACCACTTCTTCATCTGG	0.542																																																	0													223	156	179					1																	154319136		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3164T>A	1.37:g.154319136T>A	ENSP00000357475:p.Phe1055Tyr		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.F1055Y	ENST00000368489.3	37	c.3164	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852233	0.71719	.	.	ENSG00000143515	ENST00000368489	T	0.58797	0.31	4.85	4.85	0.62838	.	0.160117	0.44688	D	0.000432	T	0.71492	0.3346	M	0.92317	3.295	0.80722	D	1	D	0.55172	0.97	P	0.58172	0.834	T	0.77213	-0.2670	10	0.44086	T	0.13	.	13.4115	0.60946	0.0:0.0:0.0:1.0	.	1055	P98198-3	.	Y	1055	ENSP00000357475:F1055Y	ENSP00000357475:F1055Y	F	+	2	0	ATP8B2	152585760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.864000	0.87037	2.032000	0.59987	0.533000	0.62120	TTC	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	T	NM_020452		154319136	1	no_errors	ENST00000368489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154319136	T	A	154319136	3	1	131	1	0	0	0	0	1	0	0	0	1196	1783	62	5	3396	5	ATP8B2	1	154319136	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	97383	154319136	94931485	91	20231										
SHE	126669	genome.wustl.edu	37	chr1	154459064	154459064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcactgtggtccgagagggCtggcttcaggatcttctggg	15	10	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154459064C>T	ENST00000304760.2	-	4	1206	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	374										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCGAGAGGGCTGGCTTCAGG	0.592																																																	0													91	85	87					1																	154459064		2203	4300	6503	SO:0001583	missense	126669			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1120G>A	1.37:g.154459064C>T	ENSP00000307369:p.Ala374Thr		Q8TEQ5	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A374T	ENST00000304760.2	37	c.1120	CCDS30877.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.931|8.931	0.963452|0.963452	0.18583|0.18583	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000304760|ENST00000555188	T|.	0.32023|.	1.47|.	5.37|5.37	0.558|0.558	0.17266|0.17266	.|.	0.844505|.	0.10715|.	N|.	0.642424|.	T|T	0.14399|0.14399	0.0348|0.0348	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.29941|0.29941	-0.9995|-0.9995	10|5	0.13108|.	T|.	0.6|.	-17.7169|-17.7169	5.2561|5.2561	0.15548|0.15548	0.0:0.4685:0.1406:0.391|0.0:0.4685:0.1406:0.391	.|.	374|.	Q5VZ18|.	SHE_HUMAN|.	T|N	374|71	ENSP00000307369:A374T|.	ENSP00000307369:A374T|.	A|S	-|-	1|2	0|0	SHE|SHE	152725688|152725688	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.815000|0.815000	0.46073|0.46073	-0.477000|-0.477000	0.06583|0.06583	0.021000|0.021000	0.15133|0.15133	0.591000|0.591000	0.81541|0.81541	GCC|AGC	SHE	-	NULL		0.592	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2	C	NM_001010846		154459064	-1	no_errors	ENST00000304760	ensembl	human	known	70_37	missense	SNP	0.142	T	T	154459064	C	T	154459064	3	4	131	1	0	0	0	0	1	0	0	0	14306	797	28	4	379	4	SHE	1	154459064	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	139928	154459064	94791557	92	20232										
UBE2Q1	55585	genome.wustl.edu	37	chr1	154524250	154524250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagagacaggctcacctgTttggtgagaagttccatgca	13	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154524250T>C	ENST00000292211.4	-	10	1150	c.1071A>G	c.(1069-1071)aaA>aaG	p.K357K	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	357					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTCACCTGTTTGGTGAGAA	0.562																																																	0													136	144	142					1																	154524250		2203	4300	6503	SO:0001819	synonymous_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1071A>G	1.37:g.154524250T>C			B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K357	ENST00000292211.4	37	c.1071	CCDS1069.1	1																																																																																			UBE2Q1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.562	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	T	NM_017582		154524250	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	silent	SNP	1.000	C	C	154524250	T	C	154524250	2	2	131	1	0	0	0	0	0	0	0	1	16900	1722	60	5		5	UBE2Q1	1	154524250	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	65186	154524250	94726371	93	20233										
UBE2Q1	55585	genome.wustl.edu	37	chr1	154527963	154527963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggatgctgagggaggttatAgagtttacacaggtcggaga	16	4	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154527963A>C	ENST00000292211.4	-	3	557	c.478T>G	c.(478-480)Tat>Gat	p.Y160D	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	160					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGAGGTTATAGAGTTTACAC	0.532																																																	0													156	148	151					1																	154527963		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.478T>G	1.37:g.154527963A>C	ENSP00000292211:p.Tyr160Asp		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Y160D	ENST00000292211.4	37	c.478	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435423	0.83885	.	.	ENSG00000160714	ENST00000292211	.	.	.	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.60157	0.2247	L	0.47716	1.5	0.51482	D	0.999922	D	0.65815	0.995	D	0.66351	0.943	T	0.65821	-0.6075	9	0.87932	D	0	-10.8879	13.3002	0.60321	1.0:0.0:0.0:0.0	.	160	Q7Z7E8	UB2Q1_HUMAN	D	160	.	ENSP00000292211:Y160D	Y	-	1	0	UBE2Q1	152794587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.756000	0.91651	2.078000	0.62432	0.374000	0.22700	TAT	UBE2Q1	-	NULL		0.532	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	A	NM_017582		154527963	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154527963	A	C	154527963	3	2	131	1	0	0	0	0	1	0	0	0	16900	420	15	5	834	5	UBE2Q1	1	154527963	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3713	154527963	94722658	94	20234										
DCST2	127579	genome.wustl.edu	37	chr1	154996951	154996951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagacagtggcctcaccgaCtggccagcactaggaaggca	12	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154996951C>T	ENST00000368424.3	-	11	1797	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	DCST2_ENST00000295536.5_Missense_Mutation_p.S580N	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	580						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTCACCGACTGGCCAGCAC	0.567																																																	0													52	54	53					1																	154996951		2203	4300	6503	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1739G>A	1.37:g.154996951C>T	ENSP00000357409:p.Ser580Asn		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.S580N	ENST00000368424.3	37	c.1739	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178587	0.38511	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24908	1.83;1.84	4.38	-5.29	0.02747	.	3.063890	0.01553	N	0.019747	T	0.02929	0.0087	N	0.12182	0.205	0.09310	N	1	B	0.28324	0.207	B	0.21546	0.035	T	0.17961	-1.0352	10	0.17369	T	0.5	.	3.528	0.07766	0.3855:0.1548:0.372:0.0877	.	580	Q5T1A1	DCST2_HUMAN	N	580	ENSP00000357409:S580N;ENSP00000295536:S580N	ENSP00000295536:S580N	S	-	2	0	DCST2	153263575	0.000000	0.05858	0.018000	0.16275	0.851000	0.48451	-0.663000	0.05299	-0.537000	0.06290	0.462000	0.41574	AGT	DCST2	-	NULL		0.567	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	C	NM_144622		154996951	-1	no_errors	ENST00000368424	ensembl	human	known	70_37	missense	SNP	0.001	T	T	154996951	C	T	154996951	3	4	131	1	0	0	0	0	1	0	0	0	4308	565	20	4	602	4	DCST2	1	154996951	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	468988	154996951	94253670	95	20235										
DCST1	149095	genome.wustl.edu	37	chr1	155019788	155019788	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgatggaatcaaacaacatgCgtgagtgatgctgaaagttt	11	5	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155019788C>T	ENST00000295542.1	+	14	1708	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	DCST1_ENST00000392480.1_Splice_Site_p.P538S|DCST1_ENST00000368419.2_Splice_Site_p.P538S|DCST1_ENST00000423025.2_Splice_Site_p.P513S|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	538						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AAACAACATGCGTGAGTGATG	0.547																																																	0													77	74	75					1																	155019788		2203	4300	6503	SO:0001630	splice_region_variant	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1612+1C>T	1.37:g.155019788C>T			B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.P538S	ENST00000295542.1	37	c.1612	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554585	0.27739	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.88	3.9	0.45041	Dendritic cell-specific transmembrane protein-like (1);	0.302543	0.30781	N	0.008899	T	0.10852	0.0265	L	0.47716	1.5	0.36925	D	0.891597	B;B	0.29270	0.24;0.24	B;B	0.24541	0.054;0.054	T	0.03051	-1.1078	10	0.11794	T	0.64	-30.9901	10.5999	0.45360	0.0:0.8052:0.1948:0.0	.	513;538	E9PHV3;Q5T197	.;DCST1_HUMAN	S	538;538;513;538	ENSP00000295542:P538S;ENSP00000376271:P538S;ENSP00000387369:P513S;ENSP00000357404:P538S	ENSP00000295542:P538S	P	+	1	0	DCST1	153286412	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.002000	0.40835	2.688000	0.91661	0.655000	0.94253	CCC	DCST1	-	pfam_DC_STAMP-like		0.547	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	C	NM_152494	Missense_Mutation	155019788	1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155019788	C	T	155019788	5	4	131	1	0	0	0	0	0	0	1	0	4307	782	27	2	1662	2	DCST1	1	155019788	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	22837	155019788	94230833	96	20236										
ASH1L	55870	genome.wustl.edu	37	chr1	155330125	155330125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaaggaatgaaagttataAtcataagtgagttcagtccc	9	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155330125A>C	ENST00000368346.3	-	13	7416	c.6777T>G	c.(6775-6777)gaT>gaG	p.D2259E	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2254E|RNU6-106P_ENST00000384405.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2259	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAAAGTTATAATCATAAGTGA	0.363																																																	0													103	102	103					1																	155330125		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6777T>G	1.37:g.155330125A>C	ENSP00000357330:p.Asp2259Glu		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.D2259E	ENST00000368346.3	37	c.6777		1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878278	0.91664	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.84589	-1.87;-1.87	5.09	3.95	0.45737	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	H	0.94385	3.53	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.81914	0.995;0.979	D	0.91298	0.5064	10	0.87932	D	0	.	3.7837	0.08690	0.7146:0.0:0.2854:0.0	.	2259;2254	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	2259;2254	ENSP00000357330:D2259E;ENSP00000376204:D2254E	ENSP00000357330:D2259E	D	-	3	2	ASH1L	153596749	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.561000	0.53770	2.133000	0.65898	0.533000	0.62120	GAT	ASH1L	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.363	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	A	NM_018489		155330125	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155330125	A	C	155330125	3	2	131	1	0	0	0	0	1	0	0	0	1042	98	4	5	2196	5	ASH1L	1	155330125	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	310337	155330125	93920496	97	20237										
ASH1L	55870	genome.wustl.edu	37	chr1	155408777	155408777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgggctcttggtcctcattTtgtaccatccgctgcagcag	10	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155408777T>G	ENST00000368346.3	-	5	5808	c.5169A>C	c.(5167-5169)caA>caC	p.Q1723H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1723H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1723	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTCCTCATTTTGTACCATCC	0.493																																																	0													64	60	61					1																	155408777		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5169A>C	1.37:g.155408777T>G	ENSP00000357330:p.Gln1723His		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.Q1723H	ENST00000368346.3	37	c.5169		1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109180	0.37242	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88975	-2.45;-2.45	5.2	-3.08	0.05347	.	0.360811	0.27522	N	0.018996	T	0.50017	0.1591	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17167	-1.0378	10	0.22109	T	0.4	.	2.3835	0.04360	0.2389:0.4015:0.1225:0.2372	.	1723;1723	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	1723	ENSP00000357330:Q1723H;ENSP00000376204:Q1723H	ENSP00000357330:Q1723H	Q	-	3	2	ASH1L	153675401	0.821000	0.29204	0.855000	0.33649	0.985000	0.73830	-0.445000	0.06845	-0.778000	0.04566	0.460000	0.39030	CAA	ASH1L	-	NULL		0.493	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	T	NM_018489		155408777	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	0.896	G	G	155408777	T	G	155408777	3	3	131	1	0	0	0	0	1	0	0	0	1042	1838	64	5	3821	5	ASH1L	1	155408777	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	78652	155408777	93841844	98	20238										
ASH1L	55870	genome.wustl.edu	37	chr1	155491127	155491127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcagtcaaaccatcatcttTcccagcttcgatgtttcttt	4	12	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155491127T>C	ENST00000368346.3	-	2	823	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	ASH1L_ENST00000548830.1_Missense_Mutation_p.K62E|ASH1L_ENST00000392403.3_Missense_Mutation_p.K62E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	62					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCATCATCTTTCCCAGCTTCG	0.408																																																	0													289	292	291					1																	155491127		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.184A>G	1.37:g.155491127T>C	ENSP00000357330:p.Lys62Glu		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K62E	ENST00000368346.3	37	c.184		1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883022	0.72410	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.88975	-2.45;-2.45	5.92	4.8	0.61643	.	0.206924	0.40144	N	0.001169	T	0.64757	0.2627	N	0.08118	0	0.32104	N	0.590216	B;B	0.29590	0.162;0.25	B;B	0.27608	0.037;0.081	T	0.64550	-0.6381	10	0.46703	T	0.11	.	9.8655	0.41140	0.0:0.0774:0.0:0.9226	.	62;62	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	62	ENSP00000357330:K62E;ENSP00000376204:K62E	ENSP00000357330:K62E	K	-	1	0	ASH1L	153757751	0.891000	0.30450	0.886000	0.34754	0.612000	0.37316	2.109000	0.41863	2.266000	0.75297	0.455000	0.32223	AAA	ASH1L	-	NULL		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	T	NM_018489		155491127	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	0.992	C	C	155491127	T	C	155491127	3	2	131	1	0	0	0	0	1	0	0	0	1042	1792	62	5	8818	5	ASH1L	1	155491127	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	82350	155491127	93759494	99	20239										
SLC25A44	9673	genome.wustl.edu	37	chr1	156177734	156177734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattgtctttcaagctgtctCggggcccctggctgcagcca	11	14	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:156177734C>T	ENST00000359511.4	+	3	855	c.683C>T	c.(682-684)tCg>tTg	p.S228L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.S205L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	228					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CAAGCTGTCTCGGGGCCCCTG	0.552																																																	0													109	90	97					1																	156177734		2203	4300	6503	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.683C>T	1.37:g.156177734C>T	ENSP00000352497:p.Ser228Leu		O75034	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S228L	ENST00000359511.4	37	c.683	CCDS1133.1	1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207870	0.58343	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.79247	-1.25;-1.25	5.17	4.26	0.50523	Mitochondrial carrier domain (2);	0.063541	0.64402	D	0.000009	T	0.80407	0.4617	M	0.71871	2.18	0.52099	D	0.999941	P;D;D	0.56287	0.948;0.975;0.975	B;P;P	0.60236	0.44;0.871;0.804	D	0.83385	0.0014	10	0.87932	D	0	-0.2931	11.5257	0.50578	0.0:0.9139:0.0:0.0861	.	205;205;228	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	L	228;205	ENSP00000352497:S228L;ENSP00000407560:S205L	ENSP00000352497:S228L	S	+	2	0	SLC25A44	154444358	1.000000	0.71417	0.918000	0.36340	0.114000	0.19823	7.435000	0.80391	1.407000	0.46875	-0.158000	0.13435	TCG	SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.552	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	C	NM_014655		156177734	1	no_errors	ENST00000359511	ensembl	human	known	70_37	missense	SNP	0.998	T	T	156177734	C	T	156177734	3	4	131	1	0	0	0	0	1	0	0	0	14539	893	31	1	689	1	SLC25A44	1	156177734	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	686607	156177734	93072887	100	20240										
SPTA1	6708	genome.wustl.edu	37	chr1	158622383	158622383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcataggccaataaaaattcAttataacgttgcaatagacg	6	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:158622383A>G	ENST00000368147.4	-	23	3429	c.3249T>C	c.(3247-3249)aaT>aaC	p.N1083N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1083					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAAAAATTCATTATAACGTT	0.448																																																	0													124	115	118					1																	158622383		1904	4119	6023	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3249T>C	1.37:g.158622383A>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.N1083	ENST00000368147.4	37	c.3249	CCDS41423.1	1																																																																																			SPTA1	-	NULL		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	A	NM_003126		158622383	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	silent	SNP	0.997	G	G	158622383	A	G	158622383	2	3	131	1	0	0	0	0	0	0	0	1	15146	214	8	5		5	SPTA1	1	158622383	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2444649	158622383	90628238	101	20241										
IFI16	3428	genome.wustl.edu	37	chr1	159021793	159021793	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaacatggagatcccaaaaGgattgattagaagtgccagc	11	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:159021793G>T	ENST00000295809.7	+	10	2245	c.1990G>T	c.(1990-1992)Gga>Tga	p.G664*	IFI16_ENST00000340979.6_Nonsense_Mutation_p.G552*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.G552*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.G612*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.G608*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.G608*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.G608*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	664	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GATCCCAAAAGGATTGATTAG	0.423																																																	0													82	84	83					1																	159021793		2203	4300	6503	SO:0001587	stop_gained	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1990G>T	1.37:g.159021793G>T	ENSP00000295809:p.Gly664*		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.G664*	ENST00000295809.7	37	c.1990		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.720954|5.720954	0.96839|0.96839	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	.|T	.|0.21734	.|1.99	4.85|4.85	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01730	.|0.0055	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43589	.|-0.9382	.|5	0.24483|0.13108	T|T	0.36|0.6	.|.	1.3724|1.3724	0.02213|0.02213	0.2596:0.2797:0.3152:0.1455|0.2596:0.2797:0.3152:0.1455	.|.	.|.	.|.	.|.	X|N	293;664;552;608;608;612|372	.|ENSP00000404325:K372N	ENSP00000295809:G664X|ENSP00000404325:K372N	G|K	+|+	1|3	0|2	IFI16|IFI16	157288417|157288417	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.211000|-0.211000	0.09332|0.09332	-1.124000|-1.124000	0.02936|0.02936	-0.320000|-0.320000	0.08662|0.08662	GGA|AAG	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.423	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		159021793	1	no_errors	ENST00000295809	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	159021793	G	T	159021793	4	4	131	1	0	0	0	0	0	1	0	0	7531	1001	35	4	1852	4	IFI16	1	159021793	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	399410	159021793	90228828	102	20242										
PIGM	93183	genome.wustl.edu	37	chr1	160000262	160000262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtgtggaacatacactagTcatatttgattctctctgtc	9	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:160000262T>C	ENST00000368090.2	-	1	1521	c.1268A>G	c.(1267-1269)gAc>gGc	p.D423G		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	423					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATACACTAGTCATATTTGAT	0.378																																																	0													121	134	129					1																	160000262		2203	4300	6503	SO:0001583	missense	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	18858	protein-coding gene	gene with protein product	"GPI mannosyltransferase 1", "DPM:GlcN-(acyl-)PI mannosyltransferase", "dol-P-Man dependent GPI mannosyltransferase"	610273	"phosphatidylinositol glycan, class M"			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.1268A>G	1.37:g.160000262T>C	ENSP00000357069:p.Asp423Gly			Missense_Mutation	SNP	pfam_Mannosyltransferase_DXD	p.D423G	ENST00000368090.2	37	c.1268	CCDS1192.1	1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.727634	0.30593	.	.	ENSG00000143315	ENST00000368090	T	0.45276	0.9	4.45	4.45	0.53987	.	0.439592	0.24018	N	0.042305	T	0.09730	0.0239	N	0.08118	0	0.24656	N	0.993495	P	0.43477	0.808	B	0.39706	0.307	T	0.05084	-1.0907	9	.	.	.	-16.4787	10.0577	0.42255	0.0:0.0:0.0:1.0	.	423	Q9H3S5	PIGM_HUMAN	G	423	ENSP00000357069:D423G	.	D	-	2	0	PIGM	158266886	0.763000	0.28462	0.970000	0.41538	0.398000	0.30690	1.552000	0.36244	1.847000	0.53656	0.379000	0.24179	GAC	PIGM	-	NULL		0.378	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGM	HGNC	protein_coding	OTTHUMT00000060643.2	T	NM_145167		160000262	-1	no_errors	ENST00000368090	ensembl	human	known	70_37	missense	SNP	0.649	C	C	160000262	T	C	160000262	3	2	131	1	0	0	0	0	1	0	0	0	11916	1667	58	5	7	5	PIGM	1	160000262	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	978469	160000262	89250359	103	20243										
NDUFS2	4720	genome.wustl.edu	37	chr1	161180448	161180448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccagccctatgatgtttacGaccaggttgagtttgatgtt	10	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:161180448G>A	ENST00000367993.3	+	10	1382	c.934G>A	c.(934-936)Gac>Aac	p.D312N	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Missense_Mutation_p.D214N|NDUFS2_ENST00000392179.4_Missense_Mutation_p.D312N	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	312					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGATGTTTACGACCAGGTTGA	0.527																																																	0													151	118	130					1																	161180448		2203	4300	6503	SO:0001583	missense	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.934G>A	1.37:g.161180448G>A	ENSP00000356972:p.Asp312Asn		D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	p.D312N	ENST00000367993.3	37	c.934	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710253	0.68730	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	D;D;D	0.89343	-2.5;-2.5;-2.5	5.14	4.23	0.50019	NADH-quinone oxidoreductase, subunit D (1);	0.147583	0.64402	D	0.000019	D	0.84147	0.5408	M	0.81682	2.555	0.44789	D	0.997793	B;B;B;B	0.26602	0.154;0.037;0.122;0.122	B;B;B;B	0.27170	0.032;0.032;0.077;0.077	D	0.84263	0.0484	9	0.51188	T	0.08	.	12.8757	0.57989	0.0801:0.0:0.9199:0.0	.	261;214;312;312	B7Z792;B7Z9L2;Q53HG2;O75306	.;.;.;NDUS2_HUMAN	N	312;312;214	ENSP00000356972:D312N;ENSP00000376018:D312N;ENSP00000446447:D214N	ENSP00000356972:D312N	D	+	1	0	NDUFS2	159447072	1.000000	0.71417	0.846000	0.33378	0.968000	0.65278	8.822000	0.92013	1.393000	0.46605	0.555000	0.69702	GAC	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H		0.527	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	G	NM_004550		161180448	1	no_errors	ENST00000367993	ensembl	human	known	70_37	missense	SNP	0.999	A	A	161180448	G	A	161180448	3	1	131	1	0	0	0	0	1	0	0	0	10316	1058	37	1	968	1	NDUFS2	1	161180448	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1180186	161180448	88070173	104	20244										
DUSP12	11266	genome.wustl.edu	37	chr1	161721742	161721742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagtgcaatttataagcaatAtcgtttacaaaaggttacag	7	5	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:161721742A>G	ENST00000367943.4	+	3	577	c.545A>G	c.(544-546)tAt>tGt	p.Y182C		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	182					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TATAAGCAATATCGTTTACAA	0.363																																																	0													104	109	107					1																	161721742		2203	4300	6503	SO:0001583	missense	11266			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.545A>G	1.37:g.161721742A>G	ENSP00000356920:p.Tyr182Cys		Q5VXA8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y182C	ENST00000367943.4	37	c.545	CCDS1234.1	1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215111	0.58452	.	.	ENSG00000081721	ENST00000367943	T	0.04194	3.68	4.99	4.99	0.66335	.	0.198931	0.33834	N	0.004502	T	0.11707	0.0285	M	0.77313	2.365	0.46478	D	0.999062	D	0.76494	0.999	D	0.64042	0.921	T	0.01048	-1.1469	9	0.66056	D	0.02	.	12.6891	0.56964	1.0:0.0:0.0:0.0	.	182	Q9UNI6	DUS12_HUMAN	C	182	ENSP00000356920:Y182C	ENSP00000356920:Y182C	Y	+	2	0	DUSP12	159988366	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.648000	0.67930	2.099000	0.63709	0.397000	0.26171	TAT	DUSP12	-	pirsf_DUSP12		0.363	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1	A	NM_007240		161721742	1	no_errors	ENST00000367943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	161721742	A	G	161721742	3	3	131	1	0	0	0	0	1	0	0	0	4822	449	16	5	555	5	DUSP12	1	161721742	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	541294	161721742	87528879	105	20245										
RGS4	5999	genome.wustl.edu	37	chr1	163044242	163044242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctaccgccgcttcctcaaGtctcgattctatcttgattt	5	14	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:163044242G>T	ENST00000367909.6	+	5	850	c.510G>T	c.(508-510)aaG>aaT	p.K170N	RGS4_ENST00000527809.1_Missense_Mutation_p.K152N|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000421743.2_Missense_Mutation_p.K267N|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.K152N	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	170	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTTCCTCAAGTCTCGATTCT	0.507																																					Ovarian(76;1257 1738 3039 6086)												0													217	233	227					1																	163044242		2203	4300	6503	SO:0001583	missense	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.510G>T	1.37:g.163044242G>T	ENSP00000356885:p.Lys170Asn		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.K267N	ENST00000367909.6	37	c.801	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193882	0.78902	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.11	3.22	0.36961	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.156761	0.56097	D	0.000038	T	0.04092	0.0114	L	0.60957	1.885	0.42872	D	0.994143	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	T	0.16012	-1.0417	9	0.87932	D	0	.	9.9074	0.41384	0.1682:0.0:0.8318:0.0	.	170;267	P49798;A7XA59	RGS4_HUMAN;.	N	267;170;152;152	ENSP00000397181:K267N;ENSP00000356885:K170N;ENSP00000433261:K152N;ENSP00000356882:K152N	ENSP00000356882:K152N	K	+	3	2	RGS4	161310866	0.995000	0.38212	0.999000	0.59377	0.978000	0.69477	0.376000	0.20535	0.720000	0.32209	0.655000	0.94253	AAG	RGS4	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.507	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	G	NM_005613		163044242	1	no_errors	ENST00000421743	ensembl	human	known	70_37	missense	SNP	1.000	T	T	163044242	G	T	163044242	3	4	131	1	0	0	0	0	1	0	0	0	13337	1020	36	4	823	4	RGS4	1	163044242	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1322500	163044242	86206379	106	20246										
NUF2	83540	genome.wustl.edu	37	chr1	163318778	163318778	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagaggtgctgtctatgaaCgagtaaccacaattaatcaa	8	7	2	2	rs375173490		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:163318778C>T	ENST00000271452.3	+	13	1447	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	NUF2_ENST00000367900.3_Nonsense_Mutation_p.R390*|NUF2_ENST00000524800.1_Nonsense_Mutation_p.R343*	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	390	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGTCTATGAACGAGTAACCAC	0.343																																																	0								C	stop/ARG,stop/ARG	2,4404	4.2+/-10.8	0,2,2201	71	75	74		1168,1168	3.3	0.2	1		74	0,8600		0,0,4300	no	stop-gained,stop-gained	NUF2	NM_031423.3,NM_145697.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	390/465,390/465	163318778	2,13004	2203	4300	6503	SO:0001587	stop_gained	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1168C>T	1.37:g.163318778C>T	ENSP00000271452:p.Arg390*		Q8WU69|Q96HJ4|Q96Q78	Nonsense_Mutation	SNP	pfam_Kinetochore_Nuf2	p.R390*	ENST00000271452.3	37	c.1168	CCDS1245.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.878192	0.97055	4.54E-4	0.0	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	.	.	.	5.18	3.26	0.37387	.	0.630262	0.15081	N	0.281651	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	0.5605	3.9326	0.09292	0.1685:0.5814:0.163:0.0871	.	.	.	.	X	343;390;390	.	ENSP00000271452:R390X	R	+	1	2	NUF2	161585402	0.824000	0.29247	0.205000	0.23548	0.909000	0.53808	0.836000	0.27545	0.841000	0.35020	0.655000	0.94253	CGA	NUF2	-	NULL		0.343	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	C	NM_145697		163318778	1	no_errors	ENST00000271452	ensembl	human	known	70_37	nonsense	SNP	0.065	T	T	163318778	C	T	163318778	4	4	131	1	0	0	0	0	0	1	0	0	10771	528	19	2	1214	2	NUF2	1	163318778	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	274536	163318778	85931843	107	20247										
RCSD1	92241	genome.wustl.edu	37	chr1	167666419	167666419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactgtggagaacttggagaTttcagggcggtggagtcatc	16	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:167666419T>C	ENST00000367854.3	+	6	889	c.558T>C	c.(556-558)gaT>gaC	p.D186D	RCSD1_ENST00000537350.1_Silent_p.D156D	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	186					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AACTTGGAGATTTCAGGGCGG	0.542																																																	0													77	74	75					1																	167666419		2203	4300	6503	SO:0001819	synonymous_variant	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.558T>C	1.37:g.167666419T>C			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.D186	ENST00000367854.3	37	c.558	CCDS1263.1	1																																																																																			RCSD1	-	NULL		0.542	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	T	NM_052862		167666419	1	no_errors	ENST00000367854	ensembl	human	known	70_37	silent	SNP	0.000	C	C	167666419	T	C	167666419	2	2	131	1	0	0	0	0	0	0	0	1	13215	1490	52	5		5	RCSD1	1	167666419	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4347641	167666419	81584202	108	20248										
ADCY10	55811	genome.wustl.edu	37	chr1	167829121	167829121	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatcctggaaatctcccgaGaaatagggaactgtacaaag	9	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:167829121G>T	ENST00000367851.4	-	16	2004	c.1820C>A	c.(1819-1821)tCt>tAt	p.S607Y	ADCY10_ENST00000367848.1_Missense_Mutation_p.S515Y|ADCY10_ENST00000545172.1_Missense_Mutation_p.S454Y	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	607					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATCTCCCGAGAAATAGGGAA	0.373																																																	0													111	118	115					1																	167829121		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1820C>A	1.37:g.167829121G>T	ENSP00000356825:p.Ser607Tyr		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.S607Y	ENST00000367851.4	37	c.1820	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820529	0.32145	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.62788	0.0;0.0;0.0	5.61	5.61	0.85477	.	0.114632	0.38217	N	0.001775	T	0.71962	0.3402	M	0.68952	2.095	0.32980	D	0.523586	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.69479	0.964;0.964;0.921	T	0.74509	-0.3642	9	0.66056	D	0.02	-10.5861	15.4922	0.75615	0.0:0.0:1.0:0.0	.	454;515;607	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	Y	454;607;515	ENSP00000441992:S454Y;ENSP00000356825:S607Y;ENSP00000356822:S515Y	ENSP00000356822:S515Y	S	-	2	0	ADCY10	166095745	0.982000	0.34865	0.042000	0.18584	0.002000	0.02628	4.573000	0.60893	2.793000	0.96121	0.655000	0.94253	TCT	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167829121	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.062	T	T	167829121	G	T	167829121	3	4	131	1	0	0	0	0	1	0	0	0	293	942	33	3	3084	3	ADCY10	1	167829121	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	162702	167829121	81421500	109	20249										
XCL1	6375	genome.wustl.edu	37	chr1	168549377	168549377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgccggttagcagaatcaaGacctacaccatcacggaagg	10	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:168549377G>T	ENST00000367818.3	+	2	303	c.138G>T	c.(136-138)aaG>aaT	p.K46N		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	46					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GCAGAATCAAGACCTACACCA	0.488																																																	0													161	150	154					1																	168549377		2203	4300	6503	SO:0001583	missense	6375			D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.138G>T	1.37:g.168549377G>T	ENSP00000356792:p.Lys46Asn		Q52MA8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1	p.K46N	ENST00000367818.3	37	c.138	CCDS1274.1	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930113	0.34096	.	.	ENSG00000143184	ENST00000367818	T	0.06068	3.35	4.36	3.44	0.39384	Chemokine interleukin-8-like domain (3);	0.416227	0.23452	N	0.048035	T	0.10035	0.0246	M	0.79614	2.46	0.28036	N	0.93394	D	0.69078	0.997	D	0.66351	0.943	T	0.05886	-1.0858	9	0.21540	T	0.41	-7.9608	7.4822	0.27411	0.1137:0.0:0.8863:0.0	.	46	P47992	XCL1_HUMAN	N	46	ENSP00000356792:K46N	ENSP00000356792:K46N	K	+	3	2	XCL1	166816001	0.999000	0.42202	1.000000	0.80357	0.151000	0.21798	1.637000	0.37155	2.431000	0.82371	0.655000	0.94253	AAG	XCL1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1		0.488	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL1	HGNC	protein_coding	OTTHUMT00000083612.1	G	NM_002995		168549377	1	no_errors	ENST00000367818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168549377	G	T	168549377	3	4	131	1	0	0	0	0	1	0	0	0	17454	933	33	3	144	3	XCL1	1	168549377	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	720256	168549377	80701244	110	20250										
C1orf114	57821	genome.wustl.edu	37	chr1	169394090	169394090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttcattttcattaattaAccactccaggtccttttcaa	2	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169394090A>C	ENST00000367806.3	-	2	228	c.76T>G	c.(76-78)Tta>Gta	p.L26V	CCDC181_ENST00000367805.3_Missense_Mutation_p.L26V|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.L26V	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	26						nucleus (GO:0005634)											TCATTAATTAACCACTCCAGG	0.294																																																	0													149	142	144					1																	169394090		2202	4296	6498	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.76T>G	1.37:g.169394090A>C	ENSP00000356780:p.Leu26Val		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.L26V	ENST00000367806.3	37	c.76		1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.599037	0.66332	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.50001	0.76;0.77;0.76;0.84	5.46	-0.978	0.10279	.	0.077719	0.51477	D	0.000087	T	0.49592	0.1566	M	0.71581	2.175	0.40473	D	0.980363	D;D;D	0.76494	0.999;0.99;0.99	D;P;P	0.69654	0.965;0.861;0.861	T	0.57388	-0.7820	9	0.72032	D	0.01	-10.1714	11.2574	0.49063	0.5959:0.0:0.4041:0.0	.	26;26;26	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	V	26	ENSP00000356779:L26V;ENSP00000356780:L26V;ENSP00000442297:L26V;ENSP00000411000:L26V	ENSP00000356779:L26V	L	-	1	2	C1orf114	167660714	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	0.861000	0.27885	-0.447000	0.07138	-0.379000	0.06801	TTA	C1orf114	-	NULL		0.294	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	A	NM_021179		169394090	-1	no_errors	ENST00000367806	ensembl	human	known	70_37	missense	SNP	0.991	C	C	169394090	A	C	169394090	3	2	131	1	0	0	0	0	1	0	0	0	1992	40	2	5	1470	5	C1orf114	1	169394090	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	844713	169394090	79856531	111	20251										
F5	2153	genome.wustl.edu	37	chr1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agccctgtgttataattgccGttatcttcttgatcttgagt	8	8	3	2	rs199601865		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169484809G>A	ENST00000367797.3	-	24	6602	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M	F5_ENST00000367796.3_Missense_Mutation_p.T2139M	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2134	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388																																																	0								G	MET/THR	0,4406		0,0,2203	139	131	134		6401	5.6	1	1		134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	F5	NM_000130.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2134/2225	169484809	1,13005	2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6401C>T	1.37:g.169484809G>A	ENSP00000356771:p.Thr2134Met		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T2139M	ENST00000367797.3	37	c.6416	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237075	0.58886	0.0	1.16E-4	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98531	-4.98;-4.98	5.61	5.61	0.85477	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.86502	2.82	0.46654	D	0.999149	D	0.89917	1.0	D	0.97110	1.0	D	0.99824	1.1049	9	0.87932	D	0	-20.207	19.223	0.93806	0.0:0.0:1.0:0.0	.	2134	P12259	FA5_HUMAN	M	2134;2139	ENSP00000356771:T2134M;ENSP00000356770:T2139M	ENSP00000356770:T2139M	T	-	2	0	F5	167751433	1.000000	0.71417	0.965000	0.40720	0.256000	0.26092	6.240000	0.72363	2.635000	0.89317	0.467000	0.42956	ACG	F5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.388	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169484809	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.999	A	A	169484809	G	A	169484809	3	1	131	1	0	0	0	0	1	0	0	0	5360	1145	40	2	281	2	F5	1	169484809	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	90719	169484809	79765812	112	20252										
F5	2153	genome.wustl.edu	37	chr1	169511810	169511810	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccctgtgacatctggctgtaGaggatcctctatagggtctt	11	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169511810G>T	ENST00000367797.3	-	13	2719	c.2518C>A	c.(2518-2520)Cta>Ata	p.L840I	F5_ENST00000367796.3_Missense_Mutation_p.L845I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	840	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGCTGTAGAGGATCCTCT	0.463																																																	0													165	160	162					1																	169511810		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2518C>A	1.37:g.169511810G>T	ENSP00000356771:p.Leu840Ile		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L845I	ENST00000367797.3	37	c.2533	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736217	0.30774	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.25250	1.81;1.81	5.3	0.739	0.18324	.	0.885835	0.09379	N	0.810263	T	0.04952	0.0133	L	0.39898	1.24	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.40384	-0.9566	10	0.19147	T	0.46	-6.0E-4	1.8711	0.03208	0.2012:0.1556:0.4842:0.159	.	840	P12259	FA5_HUMAN	I	840;845	ENSP00000356771:L840I;ENSP00000356770:L845I	ENSP00000356770:L845I	L	-	1	2	F5	167778434	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	0.325000	0.19628	0.243000	0.21327	0.585000	0.79938	CTA	F5	-	NULL		0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169511810	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.000	T	T	169511810	G	T	169511810	3	4	131	1	0	0	0	0	1	0	0	0	5360	933	33	3	4208	3	F5	1	169511810	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	27001	169511810	79738811	113	20253										
F5	2153	genome.wustl.edu	37	chr1	169512260	169512260	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaatctcatatgagtcttCatcatcatctgggatacatt	5	8	6	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169512260C>A	ENST00000367797.3	-	13	2269	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*	F5_ENST00000367796.3_Nonsense_Mutation_p.E695*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	690					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATGAGTCTTCATCATCATCT	0.393																																																	0													155	153	153					1																	169512260		2203	4300	6503	SO:0001587	stop_gained	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2068G>T	1.37:g.169512260C>A	ENSP00000356771:p.Glu690*		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E695*	ENST00000367797.3	37	c.2083	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.337726	0.98221	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.98	4.02	0.46733	.	1.107960	0.06563	N	0.747134	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-3.2146	10.6328	0.45547	0.1335:0.7971:0.0:0.0694	.	.	.	.	X	690;695	.	ENSP00000356770:E695X	E	-	1	0	F5	167778884	0.002000	0.14202	0.234000	0.24042	0.118000	0.20060	0.611000	0.24268	2.837000	0.97791	0.591000	0.81541	GAA	F5	-	NULL		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169512260	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	nonsense	SNP	0.213	A	A	169512260	C	A	169512260	4	1	131	1	0	0	0	0	0	1	0	0	5360	835	29	3	4658	3	F5	1	169512260	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	450	169512260	79738361	114	20254										
KIFAP3	22920	genome.wustl.edu	37	chr1	169951900	169951900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atattctttaagaaccaattCccagtctaagtctggaatgg	7	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169951900C>T	ENST00000361580.2	-	14	1842	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	KIFAP3_ENST00000540905.1_Missense_Mutation_p.E241K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E495K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E461K|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E499K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	539					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCAATTCCCAGTCTAAG	0.373																																																	0													93	94	94					1																	169951900		2203	4300	6503	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1615G>A	1.37:g.169951900C>T	ENSP00000354560:p.Glu539Lys		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E539K	ENST00000361580.2	37	c.1615	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348927	0.82132	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.044816	0.85682	D	0.000000	T	0.48750	0.1517	L	0.54323	1.7	0.80722	D	1	D	0.56746	0.977	P	0.53809	0.735	T	0.40117	-0.9580	9	.	.	.	-23.3379	18.7248	0.91710	0.0:1.0:0.0:0.0	.	539	Q92845	KIFA3_HUMAN	K	539;499;495;241;461	ENSP00000354560:E539K;ENSP00000356739:E499K;ENSP00000356741:E495K;ENSP00000442712:E241K;ENSP00000444622:E461K	.	E	-	1	0	KIFAP3	168218524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.501000	0.84356	0.650000	0.86243	GAA	KIFAP3	-	superfamily_ARM-type_fold		0.373	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	C	NM_014970		169951900	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	T	T	169951900	C	T	169951900	3	4	131	1	0	0	0	0	1	0	0	0	8331	864	30	1	791	1	KIFAP3	1	169951900	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	439640	169951900	79298721	115	20255										
KIFAP3	22920	genome.wustl.edu	37	chr1	169993693	169993693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttgttcctcattttcagttCggtacgagtatcctcagcaa	7	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169993693C>T	ENST00000361580.2	-	9	1113	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	KIFAP3_ENST00000540905.1_5'UTR|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E252K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E218K|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E256K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	296					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCAGTTCGGTACGAGTA	0.328																																																	0													72	73	73					1																	169993693		2203	4300	6503	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.886G>A	1.37:g.169993693C>T	ENSP00000354560:p.Glu296Lys		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E296K	ENST00000361580.2	37	c.886	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.550949	0.96501	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.74147	-0.3759	9	.	.	.	-26.8534	19.9123	0.97029	0.0:1.0:0.0:0.0	.	296	Q92845	KIFA3_HUMAN	K	296;256;252;218	ENSP00000354560:E296K;ENSP00000356739:E256K;ENSP00000356741:E252K;ENSP00000444622:E218K	.	E	-	1	0	KIFAP3	168260317	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.398000	0.79919	2.801000	0.96364	0.650000	0.86243	GAA	KIFAP3	-	superfamily_ARM-type_fold		0.328	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	C	NM_014970		169993693	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	T	T	169993693	C	T	169993693	3	4	131	1	0	0	0	0	1	0	0	0	8331	893	31	1	1540	1	KIFAP3	1	169993693	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	41793	169993693	79256928	116	20256										
SLC9A11	284525	genome.wustl.edu	37	chr1	173506145	173506145	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgggctgcctctatttcaaGaattccattgttacgctgtt	8	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:173506145G>T	ENST00000367714.3	-	14	2013	c.1591C>A	c.(1591-1593)Ctt>Att	p.L531I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.L429I|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	531					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTATTTCAAGAATTCCATTG	0.313																																																	0													135	138	137					1																	173506145		2203	4299	6502	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1591C>A	1.37:g.173506145G>T	ENSP00000356687:p.Leu531Ile		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L531I	ENST00000367714.3	37	c.1591	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255959	0.39896	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.23950	1.88;1.88	5.52	4.59	0.56863	.	0.125201	0.36234	N	0.002712	T	0.10208	0.0250	M	0.64997	1.995	0.23089	N	0.998315	P	0.38535	0.635	B	0.32805	0.153	T	0.11131	-1.0600	10	0.23302	T	0.38	-19.5419	11.5146	0.50513	0.0:0.0:0.8206:0.1794	.	531	Q5TAH2	S9A11_HUMAN	I	531;429	ENSP00000356687:L531I;ENSP00000445437:L429I	ENSP00000356687:L531I	L	-	1	0	SLC9A11	171772768	0.997000	0.39634	0.235000	0.24058	0.751000	0.42716	3.102000	0.50291	1.285000	0.44548	0.508000	0.49915	CTT	SLC9C2	-	NULL		0.313	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	G	NM_178527		173506145	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	missense	SNP	0.895	T	T	173506145	G	T	173506145	3	4	131	1	0	0	0	0	1	0	0	0	14741	942	33	3	1843	3	SLC9A11	1	173506145	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3512452	173506145	75744476	117	20257										
SLC9A11	284525	genome.wustl.edu	37	chr1	173517585	173517585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtccagttaacatttgtcaaAattttttctgttttaaataa	4	5	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:173517585A>C	ENST00000367714.3	-	12	1826	c.1404T>G	c.(1402-1404)atT>atG	p.I468M	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I366M|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	468					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CATTTGTCAAAATTTTTTCTG	0.363																																																	0													127	128	127					1																	173517585		2203	4300	6503	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1404T>G	1.37:g.173517585A>C	ENSP00000356687:p.Ile468Met		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.I468M	ENST00000367714.3	37	c.1404	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220452	0.39201	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.25912	1.77;1.77	4.53	-1.21	0.09524	.	0.694155	0.12806	N	0.437607	T	0.06917	0.0176	L	0.44542	1.39	0.21147	N	0.999775	P	0.45902	0.868	B	0.43052	0.406	T	0.14952	-1.0454	10	0.34782	T	0.22	-6.9995	1.9545	0.03373	0.4369:0.3176:0.0919:0.1536	.	468	Q5TAH2	S9A11_HUMAN	M	468;366	ENSP00000356687:I468M;ENSP00000445437:I366M	ENSP00000356687:I468M	I	-	3	3	SLC9A11	171784208	0.999000	0.42202	0.835000	0.33067	0.781000	0.44180	0.338000	0.19858	-0.440000	0.07211	0.332000	0.21555	ATT	SLC9C2	-	NULL		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	A	NM_178527		173517585	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	missense	SNP	0.988	C	C	173517585	A	C	173517585	3	2	131	1	0	0	0	0	1	0	0	0	14741	10	1	5	2038	5	SLC9A11	1	173517585	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	11440	173517585	75733036	118	20258										
ZBTB37	84614	genome.wustl.edu	37	chr1	173854952	173854952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacatggggatcacaccatTcgtctgccgcatgtgtggca	11	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:173854952T>C	ENST00000367701.5	+	4	1393	c.1202T>C	c.(1201-1203)tTc>tCc	p.F401S	ZBTB37_ENST00000367704.1_3'UTR|ZBTB37_ENST00000427304.1_Missense_Mutation_p.F401S			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ATCACACCATTCGTCTGCCGC	0.527																																																	0													131	109	116					1																	173854952		692	1591	2283	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1202T>C	1.37:g.173854952T>C	ENSP00000356674:p.Phe401Ser		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F401S	ENST00000367701.5	37	c.1202	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850828	0.71719	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.66815	-0.23;-0.23	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.124459	0.64402	D	0.000001	T	0.78027	0.4219	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.81540	-0.0886	10	0.87932	D	0	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	401	Q5TC79	ZBT37_HUMAN	S	401;309;401	ENSP00000415293:F401S;ENSP00000356674:F401S	ENSP00000356674:F401S	F	+	2	0	ZBTB37	172121575	1.000000	0.71417	0.089000	0.20774	0.950000	0.60333	8.013000	0.88655	2.194000	0.70268	0.533000	0.62120	TTC	ZBTB37	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	T	NM_032522		173854952	1	no_errors	ENST00000367701	ensembl	human	known	70_37	missense	SNP	0.995	C	C	173854952	T	C	173854952	3	2	131	1	0	0	0	0	1	0	0	0	17568	1783	62	5	1275	5	ZBTB37	1	173854952	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	337367	173854952	75395669	119	20259										
TNN	63923	genome.wustl.edu	37	chr1	175046842	175046842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccgccttcagacgccacaGaaggactgcgagttggcagg	13	12	1	2	rs149261705		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:175046842G>A	ENST00000239462.4	+	2	401	c.288G>A	c.(286-288)caG>caA	p.Q96Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	96					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGACGCCACAGAAGGACTGCG	0.602																																																	0								G		0,4406		0,0,2203	58	56	56		288	5.5	1	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNN	NM_022093.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		96/1300	175046842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.288G>A	1.37:g.175046842G>A			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.Q96	ENST00000239462.4	37	c.288	CCDS30943.1	1																																																																																			TNN	-	NULL		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	G	XM_040527		175046842	1	no_errors	ENST00000239462	ensembl	human	known	70_37	silent	SNP	0.989	A	A	175046842	G	A	175046842	2	1	131	1	0	0	0	0	0	0	0	1	16353	933	33	1		1	TNN	1	175046842	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1191890	175046842	74203779	120	20260										
TNN	63923	genome.wustl.edu	37	chr1	175063328	175063328	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaggagaggcatacaaggtCtacgtgtgggctgaaagggg	17	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:175063328C>A	ENST00000239462.4	+	7	1640	c.1527C>A	c.(1525-1527)gtC>gtA	p.V509V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	509	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATACAAGGTCTACGTGTGGG	0.547																																																	0													96	73	81					1																	175063328		2203	4300	6503	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1527C>A	1.37:g.175063328C>A			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.V509	ENST00000239462.4	37	c.1527	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	C	XM_040527		175063328	1	no_errors	ENST00000239462	ensembl	human	known	70_37	silent	SNP	0.977	A	A	175063328	C	A	175063328	2	1	131	1	0	0	0	0	0	0	0	1	16353	900	32	3		3	TNN	1	175063328	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	16486	175063328	74187293	121	20261										
PAPPA2	60676	genome.wustl.edu	37	chr1	176564676	176564676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgacgacggagactgctgcGacccccaggtggctgatgtg	15	11	0	3	rs550436411		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:176564676G>A	ENST00000367662.3	+	3	3100	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D646N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	646	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACTGCTGCGACCCCCAGGT	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		21020	0		0	False		,,,				2504	0																0													57	62	60					1																	176564676		2164	4268	6432	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1936G>A	1.37:g.176564676G>A	ENSP00000356634:p.Asp646Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D646N	ENST00000367662.3	37	c.1936	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559789	0.45590	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.31769	4.75;1.48	5.42	4.51	0.55191	.	0.294917	0.36972	N	0.002304	T	0.22589	0.0545	N	0.26130	0.795	0.40517	D	0.980795	P;D	0.58620	0.539;0.983	B;P	0.46629	0.109;0.522	T	0.03728	-1.1009	10	0.29301	T	0.29	-19.8752	6.7738	0.23609	0.1557:0.1469:0.6973:0.0	.	646;646	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	646	ENSP00000356634:D646N;ENSP00000356633:D646N	ENSP00000356633:D646N	D	+	1	0	PAPPA2	174831299	1.000000	0.71417	0.974000	0.42286	0.470000	0.32858	4.089000	0.57685	1.288000	0.44600	0.650000	0.86243	GAC	PAPPA2	-	NULL		0.582	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176564676	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.998	A	A	176564676	G	A	176564676	3	1	131	1	0	0	0	0	1	0	0	0	11457	1058	37	1	1942	1	PAPPA2	1	176564676	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1501348	176564676	72685945	122	20262										
C1orf49	84066	genome.wustl.edu	37	chr1	178485789	178485789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggattttgataaacttcacGaatttgtggaaattatgaag	9	3	1	2	rs200491990		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178485789G>A	ENST00000319416.2	+	5	368	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	TEX35_ENST00000367641.3_Missense_Mutation_p.E86K|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367643.3_Missense_Mutation_p.E86K|TEX35_ENST00000258298.2_Missense_Mutation_p.E10K|TEX35_ENST00000367639.1_Missense_Mutation_p.E94K	NM_032126.4	NP_115502.2			testis expressed 35									p.E86K(1)									TAAACTTCACGAATTTGTGGA	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											114	100	105					1																	178485789		2203	4300	6503	SO:0001583	missense	84066			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 24kDa"		"chromosome 1 open reading frame 49"	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.256G>A	1.37:g.178485789G>A	ENSP00000323795:p.Glu86Lys			Missense_Mutation	SNP	NULL	p.E86K	ENST00000319416.2	37	c.256	CCDS1323.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155503	0.78114	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.12	4.19	0.49359	.	0.145433	0.32161	N	0.006499	T	0.27900	0.0687	L	0.50333	1.59	0.32634	N	0.521625	P;P;D	0.56287	0.874;0.95;0.975	B;B;P	0.47827	0.296;0.404;0.558	T	0.38265	-0.9669	10	0.56958	D	0.05	-22.7736	8.8704	0.35311	0.0998:0.0:0.9002:0.0	.	94;86;86	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	K	86;10;86;86;94	ENSP00000323795:E86K;ENSP00000258298:E10K;ENSP00000356615:E86K;ENSP00000356613:E86K;ENSP00000356611:E94K	ENSP00000258298:E10K	E	+	1	0	C1orf49	176752412	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.748000	0.47483	2.542000	0.85734	0.655000	0.94253	GAA	TEX35	-	NULL		0.433	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX35	HGNC	protein_coding	OTTHUMT00000084917.1	G	NM_032126		178485789	1	no_errors	ENST00000319416	ensembl	human	known	70_37	missense	SNP	0.998	A	A	178485789	G	A	178485789	3	1	131	1	0	0	0	0	1	0	0	0	2046	1059	37	1	298	1	C1orf49	1	178485789	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1921113	178485789	70764832	123	20263										
RALGPS2	55103	genome.wustl.edu	37	chr1	178753625	178753625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctttgatgctgtggtattcGatgttcttaaggttacacca	10	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178753625G>A	ENST00000367635.3	+	3	468	c.130G>A	c.(130-132)Gat>Aat	p.D44N	RALGPS2_ENST00000367634.2_Missense_Mutation_p.D44N	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	44					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGTGGTATTCGATGTTCTTAA	0.388																																																	0													141	130	134					1																	178753625		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.130G>A	1.37:g.178753625G>A	ENSP00000356607:p.Asp44Asn		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.D44N	ENST00000367635.3	37	c.130	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896916	0.91962	.	.	ENSG00000116191	ENST00000367635;ENST00000367634	T;T	0.29655	1.56;1.56	5.32	5.32	0.75619	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.59436	1.845	0.80722	D	1	D;D	0.55605	0.972;0.972	B;B	0.44315	0.428;0.446	T	0.20706	-1.0267	10	0.46703	T	0.11	.	17.7576	0.88453	0.0:0.0:1.0:0.0	.	44;44	B7Z7B1;Q86X27	.;RGPS2_HUMAN	N	44	ENSP00000356607:D44N;ENSP00000356606:D44N	ENSP00000356606:D44N	D	+	1	0	RALGPS2	177020248	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.898000	0.92538	2.479000	0.83701	0.467000	0.42956	GAT	RALGPS2	-	superfamily_Ras_GEF_dom		0.388	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	G	NM_152663		178753625	1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178753625	G	A	178753625	3	1	131	1	0	0	0	0	1	0	0	0	13048	1058	37	1	136	1	RALGPS2	1	178753625	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	267836	178753625	70496996	124	20264										
RALGPS2	55103	genome.wustl.edu	37	chr1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggataattttaggaaattCgtacaagtttcaagctggca	9	5	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											82	81	81					1																	178875917		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1637C>T	1.37:g.178875917C>T	ENSP00000356607:p.Ser546Leu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.S546L	ENST00000367635.3	37	c.1637	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157374|4.157374	0.78114|0.78114	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.79352	.|-1.26;-1.26;-1.26	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069958	.|0.64402	.|D	.|0.000015	T|T	0.74245|0.74245	0.3691|0.3691	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24132	.|0.049;0.098	.|B;B	.|0.26517	.|0.02;0.07	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.41790	.|T	.|0.15	.|.	20.2585|20.2585	0.98435|0.98435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|520;546	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	C|L	137|546;520;511;195	.|ENSP00000356607:S546L;ENSP00000356606:S520L;ENSP00000313613:S511L	.|ENSP00000313613:S511L	R|S	+|+	1|2	0|0	RALGPS2|RALGPS2	177142540|177142540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.276000|7.276000	0.78559|0.78559	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|TCG	RALGPS2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	C	NM_152663		178875917	1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178875917	C	T	178875917	3	4	131	1	0	0	0	0	1	0	0	0	13048	893	31	1	1707	1	RALGPS2	1	178875917	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	122292	178875917	70374704	125	20265										
TDRD5	163589	genome.wustl.edu	37	chr1	179562912	179562912	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtgcttaatgcggcttcaGatgtcatttctgtagagcag	11	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:179562912G>A	ENST00000367614.1	+	3	909	c.550G>A	c.(550-552)Gat>Aat	p.D184N	TDRD5_ENST00000444136.1_Missense_Mutation_p.D184N|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Missense_Mutation_p.D184N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	184	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCGGCTTCAGATGTCATTTC	0.413																																																	0													108	107	107					1																	179562912		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.550G>A	1.37:g.179562912G>A	ENSP00000356586:p.Asp184Asn		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D184N	ENST00000367614.1	37	c.550	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018949	0.75275	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.54279	0.58;0.58;0.58	5.79	5.79	0.91817	.	0.060955	0.64402	D	0.000008	T	0.63931	0.2553	L	0.29908	0.895	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64007	-0.6508	10	0.52906	T	0.07	-3.2521	18.5919	0.91215	0.0:0.0:1.0:0.0	.	184;184	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	184	ENSP00000356586:D184N;ENSP00000294848:D184N;ENSP00000406052:D184N	ENSP00000294848:D184N	D	+	1	0	TDRD5	177829535	1.000000	0.71417	0.961000	0.40146	0.689000	0.40095	7.019000	0.76412	2.727000	0.93392	0.655000	0.94253	GAT	TDRD5	-	NULL		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	G	NM_173533		179562912	1	no_errors	ENST00000444136	ensembl	human	known	70_37	missense	SNP	0.996	A	A	179562912	G	A	179562912	3	1	131	1	0	0	0	0	1	0	0	0	15763	942	33	1	556	1	TDRD5	1	179562912	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	686995	179562912	69687709	126	20266										
QSOX1	5768	genome.wustl.edu	37	chr1	180158779	180158779	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aataaaattccctacagtttCtttaaaactgccctggacga	5	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:180158779C>A	ENST00000367602.3	+	9	1184	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L	QSOX1_ENST00000367600.5_Missense_Mutation_p.F370L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	370					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.F370L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTACAGTTTCTTTAAAACTG	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											72	77	75					1																	180158779		2203	4300	6503	SO:0001583	missense	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1110C>A	1.37:g.180158779C>A	ENSP00000356574:p.Phe370Leu		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.F370L	ENST00000367602.3	37	c.1110	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400958	0.11696	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.16196	3.7;2.36	5.2	-0.826	0.10805	.	0.839141	0.10926	N	0.618945	T	0.10551	0.0258	L	0.36672	1.1	0.09310	N	0.999993	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.08055	0.001;0.002;0.003	T	0.37150	-0.9718	10	0.22109	T	0.4	-2.195	4.3017	0.10927	0.2599:0.4732:0.0:0.2669	.	370;370;370	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	L	370	ENSP00000356574:F370L;ENSP00000356572:F370L	ENSP00000356572:F370L	F	+	3	2	QSOX1	178425402	0.011000	0.17503	0.023000	0.16930	0.750000	0.42670	-0.037000	0.12164	-0.081000	0.12662	0.655000	0.94253	TTC	QSOX1	-	NULL		0.478	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	C	NM_002826		180158779	1	no_errors	ENST00000367602	ensembl	human	known	70_37	missense	SNP	0.025	A	A	180158779	C	A	180158779	3	1	131	1	0	0	0	0	1	0	0	0	12913	912	32	3	1144	3	QSOX1	1	180158779	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	595867	180158779	69091842	127	20267										
ZNF648	127665	genome.wustl.edu	37	chr1	182025669	182025669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagtggatctgttggtgccGcttcagggtcgaagagcggg	19	7	2	1	rs562606540		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:182025669G>A	ENST00000339948.3	-	2	1684	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGTTGGTGCCGCTTCAGGGTC	0.647																																					NSCLC(71;908 1374 5429 20458 35642)												0													55	49	51					1																	182025669		2203	4300	6503	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1477C>T	1.37:g.182025669G>A	ENSP00000344129:p.Arg493Trp		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R493W	ENST00000339948.3	37	c.1477	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811938	0.50527	.	.	ENSG00000179930	ENST00000339948	T	0.26660	1.72	2.77	0.762	0.18454	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40791	0.1131	M	0.88704	2.975	0.33095	D	0.538504	D	0.71674	0.998	P	0.52109	0.69	T	0.54754	-0.8246	9	0.66056	D	0.02	.	5.3265	0.15908	0.0:0.202:0.3858:0.4122	.	493	Q5T619	ZN648_HUMAN	W	493	ENSP00000344129:R493W	ENSP00000344129:R493W	R	-	1	2	ZNF648	180292292	0.000000	0.05858	0.997000	0.53966	0.988000	0.76386	-0.574000	0.05868	0.192000	0.20272	-0.181000	0.13052	CGG	ZNF648	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	G	XM_060597		182025669	-1	no_errors	ENST00000339948	ensembl	human	known	70_37	missense	SNP	0.968	A	A	182025669	G	A	182025669	3	1	131	1	0	0	0	0	1	0	0	0	18093	1086	38	2	233	2	ZNF648	1	182025669	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1866890	182025669	67224952	128	20268										
DHX9	1660	genome.wustl.edu	37	chr1	182827939	182827939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcgaaccatctcagcgacaAaaccaagtgggtgtggttcc	10	11	1	0	rs555173310		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:182827939A>C	ENST00000367549.3	+	10	1082	c.972A>C	c.(970-972)caA>caC	p.Q324H		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	324	Interaction with BRCA1.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTCAGCGACAAAACCAAGTGG	0.443																																					Colon(69;210 1162 3697 13559 39565)												0													111	100	104					1																	182827939		1900	4134	6034	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.972A>C	1.37:g.182827939A>C	ENSP00000356520:p.Gln324His		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.Q324H	ENST00000367549.3	37	c.972	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383722	0.42308	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.09445	2.98	5.73	-0.971	0.10303	.	0.057323	0.64402	D	0.000001	T	0.10594	0.0259	L	0.57536	1.79	0.45930	D	0.998765	B	0.09022	0.002	B	0.08055	0.003	T	0.14755	-1.0461	10	0.34782	T	0.22	.	11.1791	0.48616	0.5637:0.0:0.4363:0.0	.	324	Q08211	DHX9_HUMAN	H	324	ENSP00000356520:Q324H	ENSP00000356520:Q324H	Q	+	3	2	DHX9	181094562	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	0.956000	0.29202	-0.038000	0.13624	0.533000	0.62120	CAA	DHX9	-	NULL		0.443	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	A	NM_030588		182827939	1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	182827939	A	C	182827939	3	2	131	1	0	0	0	0	1	0	0	0	4526	11	1	5	1006	5	DHX9	1	182827939	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	802270	182827939	66422682	129	20269										
SMG7	9887	genome.wustl.edu	37	chr1	183518411	183518411	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcctgtccctcaccggattCtctctcaatcaggtaggtga	8	13	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:183518411C>A	ENST00000347615.2	+	18	2930	c.2811C>A	c.(2809-2811)ttC>ttA	p.F937L	SMG7_ENST00000515829.2_Missense_Mutation_p.F891L|SMG7_ENST00000456731.2_Missense_Mutation_p.F849L|SMG7_ENST00000508461.1_Missense_Mutation_p.F945L|SMG7_ENST00000367537.3_Missense_Mutation_p.F970L|SMG7_ENST00000507469.1_Missense_Mutation_p.F941L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	937	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCACCGGATTCTCTCTCAATC	0.403																																																	0													124	112	116					1																	183518411		2203	4300	6503	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2811C>A	1.37:g.183518411C>A	ENSP00000340766:p.Phe937Leu		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.F941L	ENST00000347615.2	37	c.2823	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694193	0.88735	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.75	5.75	0.90469	.	0.566426	0.20471	N	0.091687	T	0.47563	0.1452	L	0.29908	0.895	0.53005	D	0.999964	P;P;B;P;P	0.52842	0.956;0.649;0.426;0.826;0.956	D;B;B;B;D	0.65010	0.931;0.219;0.199;0.292;0.931	T	0.41698	-0.9494	10	0.02654	T	1	-13.6344	10.0544	0.42237	0.0:0.8471:0.0:0.1529	.	945;849;891;937;941	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	L	849;970;945;937;941;891	ENSP00000407629:F849L;ENSP00000356507:F970L;ENSP00000426915:F945L;ENSP00000340766:F937L;ENSP00000425133:F941L;ENSP00000421358:F891L	ENSP00000340766:F937L	F	+	3	2	SMG7	181785034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.531000	0.36018	2.708000	0.92522	0.650000	0.86243	TTC	SMG7	-	NULL		0.403	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	C	NM_014837		183518411	1	no_errors	ENST00000507469	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183518411	C	A	183518411	3	1	131	1	0	0	0	0	1	0	0	0	14828	912	32	3	3035	3	SMG7	1	183518411	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	690472	183518411	65732210	130	20270										
RGL1	23179	genome.wustl.edu	37	chr1	183895267	183895268	+	Frame_Shift_Ins	INS	-	-	T													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccagactcagcaaatgtcINSttttatgccatgaacagcca							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:183895267_183895268insT	ENST00000360851.3	+	18	2326_2327	c.2148_2149insT	c.(2149-2151)tttfs	p.F717fs	RGL1_ENST00000536277.1_Frame_Shift_Ins_p.F715fs|RGL1_ENST00000539189.1_Frame_Shift_Ins_p.F688fs|RGL1_ENST00000304685.4_Frame_Shift_Ins_p.F752fs			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	717	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CAGCAAATGTCTTTTATGCCAT	0.436																																																	0																																										SO:0001589	frameshift_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2152dupT	1.37:g.183895271_183895271dupT	ENSP00000354097:p.Phe717fs		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Frame_Shift_Ins	INS	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y752fs	ENST00000360851.3	37	c.2253_2254		1																																																																																			RGL1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.436	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	-	NM_015149		183895268	1	no_errors	ENST00000304685	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	183895268	-	T	183895267	7	5	131	1	0	1	1	0	0	0	0	0	13306	900	32	0	2323	0	RGL1	1	183895267	Frame_Shift_Ins	INS	-	TCGA-FU-A3HZ-01A-11D-A20U-09	376856	183895267	65355354	131	20271										
TSEN15	116461	genome.wustl.edu	37	chr1	184023932	184023932	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctgccttgttggtactgaGatagaaggggaggggttaca	15	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:184023932G>T	ENST00000361641.1	+	3	367	c.288G>T	c.(286-288)gaG>gaT	p.E96D	TSEN15_ENST00000423085.2_Missense_Mutation_p.E96D|TSEN15_ENST00000533373.1_Missense_Mutation_p.E96D	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	96					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						TTGGTACTGAGATAGAAGGGG	0.478																																																	0													64	58	60					1																	184023932		2203	4300	6503	SO:0001583	missense	116461			AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"tRNA splicing endonuclease subunits"	16791	protein-coding gene	gene with protein product		608756	"chromosome 1 open reading frame 19", "tRNA splicing endonuclease 15 homolog (S. cerevisiae)"	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.288G>T	1.37:g.184023932G>T	ENSP00000355299:p.Glu96Asp		B4DKP0|Q9BZQ5	Missense_Mutation	SNP	pfam_tRNA-endonuc_su_Sen15	p.E96D	ENST00000361641.1	37	c.288	CCDS1361.1	1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832968	0.71258	.	.	ENSG00000198860	ENST00000361641;ENST00000533373;ENST00000423085	T;T;T	0.47528	0.84;0.84;0.84	5.27	2.42	0.29668	tRNA-intron endonuclease, Sen15 domain (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	L	0.59436	1.845	0.44579	D	0.997543	D;P	0.69078	0.997;0.948	D;D	0.79108	0.992;0.917	T	0.51521	-0.8695	10	0.33141	T	0.24	-20.4947	7.413	0.27027	0.265:0.0:0.735:0.0	.	96;96	B4DKP0;Q8WW01	.;SEN15_HUMAN	D	96	ENSP00000355299:E96D;ENSP00000436996:E96D;ENSP00000402002:E96D	ENSP00000355299:E96D	E	+	3	2	TSEN15	182290555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.343000	0.44001	0.376000	0.24707	0.650000	0.86243	GAG	TSEN15	-	pfam_tRNA-endonuc_su_Sen15		0.478	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN15	HGNC	protein_coding	OTTHUMT00000086132.1	G			184023932	1	no_errors	ENST00000361641	ensembl	human	known	70_37	missense	SNP	0.998	T	T	184023932	G	T	184023932	3	4	131	1	0	0	0	0	1	0	0	0	16642	933	33	3	298	3	TSEN15	1	184023932	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	128665	184023932	65226689	132	20272										
HMCN1	83872	genome.wustl.edu	37	chr1	185939558	185939558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacaagatctggatgctggCgattatacctgtgtagccat	10	9	1	1	rs373154967		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:185939558C>T	ENST00000271588.4	+	15	2533	c.2304C>T	c.(2302-2304)ggC>ggT	p.G768G	HMCN1_ENST00000367492.2_Silent_p.G768G|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	768	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGATGCTGGCGATTATACCT	0.438																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	149	153	151		2304	-3.1	1	1		151	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		768/5636	185939558	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2304C>T	1.37:g.185939558C>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G768	ENST00000271588.4	37	c.2304	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		185939558	1	no_errors	ENST00000271588	ensembl	human	known	70_37	silent	SNP	0.888	T	T	185939558	C	T	185939558	2	4	131	1	0	0	0	0	0	0	0	1	7240	755	27	2		2	HMCN1	1	185939558	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1915626	185939558	63311063	133	20273										
PTGS2	5743	genome.wustl.edu	37	chr1	186648219	186648219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cataactcataattgcatttCgaaggaagggaatgttattc	8	6	1	0	rs200132172		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:186648219C>T	ENST00000367468.5	-	3	420	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	95					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AATTGCATTTCGAAGGAAGGG	0.343																																																	0													76	74	75					1																	186648219		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.284G>A	1.37:g.186648219C>T	ENSP00000356438:p.Arg95Gln		A8K802|Q16876	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R95Q	ENST00000367468.5	37	c.284	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724777	0.68959	.	.	ENSG00000073756	ENST00000367468	T	0.71698	-0.59	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	M	0.73962	2.25	0.53005	D	0.999967	B	0.32188	0.359	B	0.21917	0.037	T	0.68640	-0.5355	10	0.51188	T	0.08	-8.8268	12.3538	0.55163	0.0:0.8644:0.0:0.1356	.	95	P35354	PGH2_HUMAN	Q	95	ENSP00000356438:R95Q	ENSP00000356438:R95Q	R	-	2	0	PTGS2	184914842	0.241000	0.23857	0.385000	0.26158	0.958000	0.62258	3.936000	0.56568	1.514000	0.48869	0.655000	0.94253	CGA	PTGS2	-	superfamily_Haem_peroxidase		0.343	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	C	NM_000963		186648219	-1	no_errors	ENST00000367468	ensembl	human	known	70_37	missense	SNP	0.848	T	T	186648219	C	T	186648219	3	4	131	1	0	0	0	0	1	0	0	0	12784	884	31	1	1562	1	PTGS2	1	186648219	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	708661	186648219	62602402	134	20274										
PLA2G4A	5321	genome.wustl.edu	37	chr1	186880397	186880397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagctcatgcccagacctacGatttagtatggctctgtgtg	10	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:186880397G>A	ENST00000367466.3	+	7	586	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	145	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CCAGACCTACGATTTAGTATG	0.453																																																	0													164	169	168					1																	186880397		2203	4300	6503	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.434G>A	1.37:g.186880397G>A	ENSP00000356436:p.Arg145Gln		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.R145Q	ENST00000367466.3	37	c.434	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744349	0.89663	.	.	ENSG00000116711	ENST00000367466	T	0.13538	2.58	5.24	5.24	0.73138	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53464	-0.8435	10	0.72032	D	0.01	-10.1102	16.3228	0.82958	0.0:0.0:1.0:0.0	.	145	P47712	PA24A_HUMAN	Q	145	ENSP00000356436:R145Q	ENSP00000356436:R145Q	R	+	2	0	PLA2G4A	185147020	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	3.941000	0.56607	2.437000	0.82529	0.650000	0.86243	CGA	PLA2G4A	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.453	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	G	NM_024420		186880397	1	no_errors	ENST00000367466	ensembl	human	known	70_37	missense	SNP	0.976	A	A	186880397	G	A	186880397	3	1	131	1	0	0	0	0	1	0	0	0	12025	1058	37	1	456	1	PLA2G4A	1	186880397	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	232178	186880397	62370224	135	20275										
PLA2G4A	5321	genome.wustl.edu	37	chr1	186915853	186915853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttatttggaagcaaattttTtatgggaacagtcgttaaga	9	4	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:186915853T>G	ENST00000367466.3	+	11	1270	c.1118T>G	c.(1117-1119)tTt>tGt	p.F373C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F313C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	373	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGCAAATTTTTTATGGGAACA	0.318																																																	0													80	80	80					1																	186915853		2203	4299	6502	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1118T>G	1.37:g.186915853T>G	ENSP00000356436:p.Phe373Cys		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.F373C	ENST00000367466.3	37	c.1118	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296421	0.81025	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05139	3.49;3.49	5.91	5.91	0.95273	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.04307	-1.0961	10	0.87932	D	0	-20.2417	15.5295	0.75942	0.0:0.0:0.0:1.0	.	313;373	E7EU42;P47712	.;PA24A_HUMAN	C	373;313	ENSP00000356436:F373C;ENSP00000406892:F313C	ENSP00000356436:F373C	F	+	2	0	PLA2G4A	185182476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.963000	0.63694	2.254000	0.74563	0.533000	0.62120	TTT	PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.318	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	T	NM_024420		186915853	1	no_errors	ENST00000367466	ensembl	human	known	70_37	missense	SNP	1.000	G	G	186915853	T	G	186915853	3	3	131	1	0	0	0	0	1	0	0	0	12025	1841	64	5	1156	5	PLA2G4A	1	186915853	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	35456	186915853	62334768	136	20276										
RGS2	5997	genome.wustl.edu	37	chr1	192778294	192778294	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagagcgaggagaagcgagaAaagatgaaacggaccctgtg	15	6	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:192778294A>C	ENST00000235382.5	+	1	124	c.93A>C	c.(91-93)gaA>gaC	p.E31D	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	31					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						AGAAGCGAGAAAAGATGAAAC	0.557																																					Pancreas(71;51 2183 4981)												0													211	180	191					1																	192778294		2203	4300	6503	SO:0001583	missense	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.93A>C	1.37:g.192778294A>C	ENSP00000235382:p.Glu31Asp		Q6I9U5	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E31D	ENST00000235382.5	37	c.93	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642381	0.47153	.	.	ENSG00000116741	ENST00000235382	T	0.70869	-0.52	5.4	-2.86	0.05717	.	0.472515	0.23041	N	0.052608	T	0.47820	0.1466	N	0.19112	0.55	0.24554	N	0.994007	B	0.32620	0.378	B	0.29176	0.099	T	0.38308	-0.9667	10	0.29301	T	0.29	.	11.4914	0.50383	0.5868:0.0:0.4132:0.0	.	31	P41220	RGS2_HUMAN	D	31	ENSP00000235382:E31D	ENSP00000235382:E31D	E	+	3	2	RGS2	191044917	0.784000	0.28713	0.977000	0.42913	0.961000	0.63080	-0.424000	0.07025	-0.377000	0.07930	-0.290000	0.09829	GAA	RGS2	-	NULL		0.557	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	A	NM_002923		192778294	1	no_errors	ENST00000235382	ensembl	human	known	70_37	missense	SNP	0.946	C	C	192778294	A	C	192778294	3	2	131	1	0	0	0	0	1	0	0	0	13332	11	1	5	95	5	RGS2	1	192778294	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	5862441	192778294	56472327	137	20277										
F13B	2165	genome.wustl.edu	37	chr1	197031009	197031009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtggttttgtaccctgaaGcgcaaccataacgcatgttc	9	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:197031009G>A	ENST00000367412.1	-	3	399	c.356C>T	c.(355-357)gCt>gTt	p.A119V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTACCCTGAAGCGCAACCATA	0.403																																																	0													137	114	122					1																	197031009		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.356C>T	1.37:g.197031009G>A	ENSP00000356382:p.Ala119Val		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A119V	ENST00000367412.1	37	c.356	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	5.973	0.363490	0.11296	.	.	ENSG00000143278	ENST00000367412	T	0.64438	-0.1	5.85	1.68	0.24146	Complement control module (2);Sushi/SCR/CCP (3);	1.225850	0.06381	N	0.715225	T	0.53254	0.1785	L	0.38175	1.15	0.09310	N	1	B	0.30727	0.292	B	0.34590	0.186	T	0.38714	-0.9648	10	0.15499	T	0.54	.	10.352	0.43941	0.0648:0.0:0.4412:0.494	.	119	P05160	F13B_HUMAN	V	119	ENSP00000356382:A119V	ENSP00000356382:A119V	A	-	2	0	F13B	195297632	0.022000	0.18835	0.002000	0.10522	0.094000	0.18550	1.875000	0.39578	0.366000	0.24427	-0.181000	0.13052	GCT	F13B	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.403	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	G	NM_001994		197031009	-1	no_errors	ENST00000367412	ensembl	human	known	70_37	missense	SNP	0.001	A	A	197031009	G	A	197031009	3	1	131	1	0	0	0	0	1	0	0	0	5353	971	34	4	1669	4	F13B	1	197031009	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4252715	197031009	52219612	138	20278										
CACNA1S	779	genome.wustl.edu	37	chr1	201058460	201058460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catggagaagccgaagttgtCgaagtgggtgatgccatggt	16	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:201058460C>T	ENST00000362061.3	-	6	1052	c.826G>A	c.(826-828)Gac>Aac	p.D276N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D276N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	276					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGAAGTTGTCGAAGTGGGTG	0.642																																																	0													101	82	88					1																	201058460		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.826G>A	1.37:g.201058460C>T	ENSP00000355192:p.Asp276Asn		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.D276N	ENST00000362061.3	37	c.826	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.421988	0.96111	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97529	-4.42;-4.42	4.85	4.85	0.62838	Ion transport (1);	0.048517	0.85682	D	0.000000	D	0.98729	0.9573	M	0.92880	3.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.65684	0.937	D	0.99780	1.1027	10	0.87932	D	0	.	18.313	0.90207	0.0:1.0:0.0:0.0	.	276	Q13698	CAC1S_HUMAN	N	276	ENSP00000355192:D276N;ENSP00000356307:D276N	ENSP00000355192:D276N	D	-	1	0	CACNA1S	199325083	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	7.596000	0.82721	2.411000	0.81874	0.650000	0.86243	GAC	CACNA1S	-	pfam_Ion_trans_dom		0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	C	NM_000069		201058460	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	missense	SNP	1.000	T	T	201058460	C	T	201058460	3	4	131	1	0	0	0	0	1	0	0	0	2552	884	31	1	4951	1	CACNA1S	1	201058460	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4027451	201058460	48192161	139	20279										
SHISA4	149345	genome.wustl.edu	37	chr1	201860929	201860929	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtctctttggctttcagcTcctcctccctatatgccacc	5	17	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:201860929T>C	ENST00000362011.6	+	5	836	c.549T>C	c.(547-549)gcT>gcC	p.A183A	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	183	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						GGCTTTCAGCTCCTCCTCCCT	0.592																																																	0													251	210	224					1																	201860929		2203	4300	6503	SO:0001630	splice_region_variant	149345			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"Shisa homologs"	27139	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 40", "transmembrane protein 58", "shisa homolog 4 (Xenopus laevis)"	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.548-1T>C	1.37:g.201860929T>C			B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Silent	SNP	NULL	p.A183	ENST00000362011.6	37	c.549	CCDS1416.1	1																																																																																			SHISA4	-	NULL		0.592	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	T	NM_198149	Silent	201860929	1	no_errors	ENST00000362011	ensembl	human	known	70_37	silent	SNP	0.999	C	C	201860929	T	C	201860929	5	2	131	1	0	0	0	0	0	0	1	0	14312	1565	54	5	567	5	SHISA4	1	201860929	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	802469	201860929	47389692	140	20280										
LMOD1	25802	genome.wustl.edu	37	chr1	201869359	201869359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtcctttttggtgtctgtgTtcccagttcctctttttacc	7	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:201869359T>C	ENST00000367288.4	-	2	1028	c.782A>G	c.(781-783)aAc>aGc	p.N261S	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	261	8 X approximate tandem repeats.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTGTCTGTGTTCCCAGTTCC	0.438																																																	0													144	141	142					1																	201869359		2002	4167	6169	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.782A>G	1.37:g.201869359T>C	ENSP00000356257:p.Asn261Ser		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.N261S	ENST00000367288.4	37	c.782	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	T	1.777	-0.483015	0.04383	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91686	-2.89	4.71	-3.25	0.05079	.	1.934260	0.02961	N	0.143080	T	0.77011	0.4068	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.73196	-0.4059	10	0.05351	T	0.99	-4.0165	1.3714	0.02211	0.1456:0.3395:0.1487:0.3663	.	210;261	B4E3S9;P29536	.;LMOD1_HUMAN	S	261;261;210	ENSP00000356257:N261S	ENSP00000356257:N261S	N	-	2	0	LMOD1	200135982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.731000	0.04909	-0.786000	0.04516	-0.290000	0.09829	AAC	LMOD1	-	NULL		0.438	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	T			201869359	-1	no_errors	ENST00000367288	ensembl	human	known	70_37	missense	SNP	0.000	C	C	201869359	T	C	201869359	3	2	131	1	0	0	0	0	1	0	0	0	8877	1725	60	5	1028	5	LMOD1	1	201869359	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	8430	201869359	47381262	141	20281										
ADORA1	134	genome.wustl.edu	37	chr1	203134602	203134602	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacatggtctacttcaacttCtttgtgtgggtgctgccccc	9	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:203134602C>A	ENST00000367236.4	+	3	1476	c.555C>A	c.(553-555)ttC>ttA	p.F185L	ADORA1_ENST00000337894.4_Missense_Mutation_p.F185L|ADORA1_ENST00000309502.3_Missense_Mutation_p.F185L|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	185					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.F185L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	ACTTCAACTTCTTTGTGTGGG	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											173	176	175					1																	203134602		2203	4300	6503	SO:0001583	missense	134			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.555C>A	1.37:g.203134602C>A	ENSP00000356205:p.Phe185Leu		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.F185L	ENST00000367236.4	37	c.555	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361112	0.82353	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.69926	-0.44;-0.44;-0.44	5.18	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.932;0.999;0.988	T	0.67373	-0.5687	10	0.24483	T	0.36	-45.826	11.1022	0.48182	0.0:0.8525:0.0:0.1475	.	218;117;185	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	L	185	ENSP00000308549:F185L;ENSP00000356205:F185L;ENSP00000338435:F185L	ENSP00000308549:F185L	F	+	3	2	ADORA1	201401225	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.571000	0.45990	2.586000	0.87340	0.561000	0.74099	TTC	ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.572	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	C	NM_000674		203134602	1	no_errors	ENST00000309502	ensembl	human	known	70_37	missense	SNP	1.000	A	A	203134602	C	A	203134602	3	1	131	1	0	0	0	0	1	0	0	0	326	912	32	3	561	3	ADORA1	1	203134602	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1265243	203134602	46116019	142	20282										
CHI3L1	1116	genome.wustl.edu	37	chr1	203154457	203154457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctgggaagcagctcccatCgccttcccggtactgggacc	11	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:203154457C>T	ENST00000255409.3	-	3	237	c.112G>A	c.(112-114)Gat>Aat	p.D38N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	38					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAGCTCCCATCGCCTTCCCGG	0.562																																																	0													120	108	112					1																	203154457		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.112G>A	1.37:g.203154457C>T	ENSP00000255409:p.Asp38Asn		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.D38N	ENST00000255409.3	37	c.112	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885814	0.17540	.	.	ENSG00000133048	ENST00000255409	T	0.28454	1.61	5.35	2.3	0.28687	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.956896	0.08643	N	0.915256	T	0.14700	0.0355	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33497	-0.9866	10	0.16420	T	0.52	-2.5596	5.558	0.17127	0.0:0.5158:0.3122:0.172	.	38	P36222	CH3L1_HUMAN	N	38	ENSP00000255409:D38N	ENSP00000255409:D38N	D	-	1	0	CHI3L1	201421080	0.000000	0.05858	0.009000	0.14445	0.991000	0.79684	-0.430000	0.06973	0.668000	0.31126	0.655000	0.94253	GAT	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.562	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	C	NM_001276		203154457	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	0.000	T	T	203154457	C	T	203154457	3	4	131	1	0	0	0	0	1	0	0	0	3345	884	31	1	1071	1	CHI3L1	1	203154457	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	19855	203154457	46096164	143	20283										
PLEKHA6	22874	genome.wustl.edu	37	chr1	204214041	204214041	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgagagcccgacaccagtGaaaaggggctcagggggctg	16	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204214041G>T	ENST00000272203.3	-	15	2439	c.2123C>A	c.(2122-2124)tCa>tAa	p.S708*	PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.S728*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	708										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CGACACCAGTGAAAAGGGGCT	0.637																																																	0													9	11	11					1																	204214041		2173	4264	6437	SO:0001587	stop_gained	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2123C>A	1.37:g.204214041G>T	ENSP00000272203:p.Ser708*		A7MD51|Q5VTI6	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S708*	ENST00000272203.3	37	c.2123	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.077780	0.99331	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	.	.	.	5.61	5.61	0.85477	.	0.289256	0.39475	N	0.001350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6237	19.2283	0.93825	0.0:0.0:1.0:0.0	.	.	.	.	X	708;728	.	ENSP00000272203:S708X	S	-	2	0	PLEKHA6	202480664	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.839000	0.92120	2.638000	0.89438	0.557000	0.71058	TCA	PLEKHA6	-	NULL		0.637	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	G	NM_014935		204214041	-1	no_errors	ENST00000272203	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	204214041	G	T	204214041	4	4	131	1	0	0	0	0	0	1	0	0	12084	1294	45	3	1055	3	PLEKHA6	1	204214041	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1059584	204214041	45036580	144	20284										
NFASC	23114	genome.wustl.edu	37	chr1	204937953	204937953	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagacatcgcatggtacaaGaaaggtggggacctcccatc	11	12	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204937953G>T	ENST00000401399.1	+	9	1045	c.846G>T	c.(844-846)aaG>aaT	p.K282N	NFASC_ENST00000513543.1_Missense_Mutation_p.K293N|NFASC_ENST00000403080.1_Missense_Mutation_p.K282N|NFASC_ENST00000360049.4_Missense_Mutation_p.K293N|NFASC_ENST00000367170.4_Missense_Mutation_p.K282N|NFASC_ENST00000338586.6_Missense_Mutation_p.K282N|NFASC_ENST00000367171.4_Missense_Mutation_p.K282N|NFASC_ENST00000338515.6_Missense_Mutation_p.K282N|NFASC_ENST00000539706.1_Missense_Mutation_p.K293N|NFASC_ENST00000339876.6_Missense_Mutation_p.K282N|NFASC_ENST00000404907.1_Missense_Mutation_p.K293N|NFASC_ENST00000404076.1_Missense_Mutation_p.K276N|NFASC_ENST00000367169.4_Missense_Mutation_p.K282N|NFASC_ENST00000367172.4_Missense_Mutation_p.K282N			O94856	NFASC_HUMAN	neurofascin	282	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGTACAAGAAAGGTGGGG	0.493																																																	0													70	64	66					1																	204937953		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.846G>T	1.37:g.204937953G>T	ENSP00000385637:p.Lys282Asn		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K282N	ENST00000401399.1	37	c.846	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.434751|4.434751	0.83885|0.83885	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.81247|.	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;2.18;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47|.	5.5|5.5	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.56097|.	D|.	0.000027|.	T|T	0.80454|0.80454	0.4626|0.4626	M|M	0.89785|0.89785	3.06|3.06	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.91635|.	0.999;0.998;0.999;0.996;0.985;0.998;0.991|.	D|D	0.84357|0.84357	0.0536|0.0536	10|5	0.87932|.	D|.	0|.	.|.	14.1338|14.1338	0.65273|0.65273	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	293;293;378;282;282;293;282|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	N|I	282;282;282;282;282;282;293;293;293;282;282;282;276;282;293;293;269|252	ENSP00000356140:K282N;ENSP00000356139:K282N;ENSP00000356138:K282N;ENSP00000342128:K282N;ENSP00000344786:K282N;ENSP00000343509:K282N;ENSP00000438614:K293N;ENSP00000353154:K293N;ENSP00000356137:K282N;ENSP00000412161:K282N;ENSP00000384875:K282N;ENSP00000385676:K276N;ENSP00000385637:K282N;ENSP00000384061:K293N;ENSP00000425908:K293N;ENSP00000415031:K269N|.	ENSP00000295776:K293N|.	K|R	+|+	3|2	2|0	NFASC|NFASC	203204576|203204576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.641000|4.641000	0.61375|0.61375	1.456000|1.456000	0.47831|0.47831	0.650000|0.650000	0.86243|0.86243	AAG|AGA	NFASC	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	G	NM_001005388		204937953	1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	T	T	204937953	G	T	204937953	3	4	131	1	0	0	0	0	1	0	0	0	10383	933	33	3	931	3	NFASC	1	204937953	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	723912	204937953	44312668	145	20285										
NFASC	23114	genome.wustl.edu	37	chr1	204985648	204985648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccacgtcacctgtcaatgCtatctactctctggcctaac	7	15	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204985648C>A	ENST00000401399.1	+	29	3903	c.3704C>A	c.(3703-3705)gCt>gAt	p.A1235D	NFASC_ENST00000513543.1_Missense_Mutation_p.A1164D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.A1164D|NFASC_ENST00000367170.4_Missense_Mutation_p.A1263D|NFASC_ENST00000338586.6_Missense_Mutation_p.A1219D|NFASC_ENST00000367171.4_Missense_Mutation_p.A1327D|NFASC_ENST00000338515.6_Missense_Mutation_p.A1252D|NFASC_ENST00000539706.1_Missense_Mutation_p.A1169D|NFASC_ENST00000339876.6_Missense_Mutation_p.A1235D|NFASC_ENST00000404907.1_Missense_Mutation_p.A1169D|NFASC_ENST00000404076.1_Missense_Mutation_p.A1152D|NFASC_ENST00000367169.4_Missense_Mutation_p.A1066D|NFASC_ENST00000367172.4_Missense_Mutation_p.A1342D			O94856	NFASC_HUMAN	neurofascin	1342					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTGTCAATGCTATCTACTCT	0.552																																																	0													135	119	124					1																	204985648		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3704C>A	1.37:g.204985648C>A	ENSP00000385637:p.Ala1235Asp		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1342D	ENST00000401399.1	37	c.4025	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.580316|4.580316	0.86645|0.86645	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819|ENST00000367173;ENST00000425360	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.80123|.	-0.49;-0.52;-0.48;-0.4;-0.55;-0.4;-0.25;-0.24;-0.33;-0.35;-0.55;-0.25;-0.24;-0.24;-1.34|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.50627|.	D|.	0.000112|.	T|T	0.64271|0.64271	0.2583|0.2583	L|L	0.59436|0.59436	1.845|1.845	0.32237|0.32237	N|N	0.573141|0.573141	P;D;D;D;D;P;D|.	0.76494|.	0.578;0.999;0.998;0.997;0.997;0.703;0.995|.	B;D;D;D;D;B;D|.	0.80764|.	0.1;0.994;0.974;0.975;0.974;0.319;0.948|.	T|T	0.68447|0.68447	-0.5406|-0.5406	10|5	0.87932|.	D|.	0|.	.|.	18.6493|18.6493	0.91425|0.91425	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1342;1184;1169;1219;1061;1235;1164|.	O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.|.	D|I	1342;1327;1263;1252;1235;1219;1184;1169;1164;1066;1152;1235;1169;1164;1160;213|1036;293	ENSP00000356140:A1342D;ENSP00000356139:A1327D;ENSP00000356138:A1263D;ENSP00000342128:A1252D;ENSP00000344786:A1235D;ENSP00000343509:A1219D;ENSP00000438614:A1169D;ENSP00000353154:A1164D;ENSP00000356137:A1066D;ENSP00000385676:A1152D;ENSP00000385637:A1235D;ENSP00000384061:A1169D;ENSP00000425908:A1164D;ENSP00000415031:A1160D;ENSP00000416891:A213D|.	ENSP00000295776:A1184D|.	A|L	+|+	2|1	0|2	NFASC|NFASC	203252271|203252271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.895000|5.895000	0.69814|0.69814	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GCT|CTA	NFASC	-	NULL		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	C	NM_001005388		204985648	1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	204985648	C	A	204985648	3	1	131	1	0	0	0	0	1	0	0	0	10383	797	28	4	4227	4	NFASC	1	204985648	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	47695	204985648	44264973	146	20286										
SLC26A9	115019	genome.wustl.edu	37	chr1	205892288	205892288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcttcttgaggtatttttgCttggctagtaatactttctg	9	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:205892288C>T	ENST00000367135.3	-	16	1808	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	SLC26A9_ENST00000340781.4_Silent_p.K565K|SLC26A9_ENST00000367134.2_Silent_p.K565K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	565	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTATTTTTGCTTGGCTAGTA	0.507																																																	0													179	160	167					1																	205892288		2203	4300	6503	SO:0001819	synonymous_variant	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1695G>A	1.37:g.205892288C>T			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K565	ENST00000367135.3	37	c.1695	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.507	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	C	NM_052934		205892288	-1	no_errors	ENST00000340781	ensembl	human	known	70_37	silent	SNP	1.000	T	T	205892288	C	T	205892288	2	4	131	1	0	0	0	0	0	0	0	1	14554	796	28	4		4	SLC26A9	1	205892288	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	906640	205892288	43358333	147	20287										
CR1	1378	genome.wustl.edu	37	chr1	207780600	207780600	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctatcctttgctttaggtttCgactcattggttccccatct	6	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:207780600C>T	ENST00000367049.4	+	36	5815	c.5815C>T	c.(5815-5817)Cga>Tga	p.R1939*	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1489*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1489*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1489*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1489*|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1489	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTTCGACTCATTGG	0.368																																																	0													280	253	261					1																	207780600		1886	4116	6002	SO:0001587	stop_gained	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5815C>T	1.37:g.207780600C>T	ENSP00000356016:p.Arg1939*		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1939*	ENST00000367049.4	37	c.5815	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.673768	0.99236	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	.	.	.	3.17	0.196	0.15159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	3.2118	0.06685	0.2119:0.5771:0.0:0.2111	.	.	.	.	X	1489;1489;1489;1489;1039;1939	.	ENSP00000356016:R1939X	R	+	1	2	CR1	205847223	0.776000	0.28616	0.621000	0.29145	0.973000	0.67179	0.687000	0.25407	0.048000	0.15891	-0.181000	0.13052	CGA	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.368	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	C	NM_000573		207780600	1	no_errors	ENST00000367049	ensembl	human	known	70_37	nonsense	SNP	0.771	T	T	207780600	C	T	207780600	4	4	131	1	0	0	0	0	0	1	0	0	3845	876	31	1	5957	1	CR1	1	207780600	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1888312	207780600	41470021	148	20288										
CD46	4179	genome.wustl.edu	37	chr1	207934772	207934772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacaattcagtgtggagtcgTgctgctccagagtgtaaagg	14	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:207934772T>C	ENST00000358170.2	+	5	810	c.654T>C	c.(652-654)cgT>cgC	p.R218R	CD46_ENST00000441839.2_Silent_p.R218R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Silent_p.R218R|CD46_ENST00000360212.2_Silent_p.R218R|CD46_ENST00000322875.4_Silent_p.R218R|CD46_ENST00000357714.1_Silent_p.R218R|CD46_ENST00000322918.5_Silent_p.R218R|CD46_ENST00000367047.1_Silent_p.R155R|CD46_ENST00000354848.1_Silent_p.R218R|CD46_ENST00000361067.1_Silent_p.R218R|CD46_ENST00000367041.1_Silent_p.R218R|CD46_ENST00000367042.1_Silent_p.R218R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	218	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGTGGAGTCGTGCTGCTCCAG	0.363																																																	0													175	147	156					1																	207934772		2203	4300	6503	SO:0001819	synonymous_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.654T>C	1.37:g.207934772T>C			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP	p.R218	ENST00000358170.2	37	c.654	CCDS1485.1	1																																																																																			CD46	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	T	NM_172361		207934772	1	no_errors	ENST00000322875	ensembl	human	known	70_37	silent	SNP	0.000	C	C	207934772	T	C	207934772	2	2	131	1	0	0	0	0	0	0	0	1	3023	1683	59	5		5	CD46	1	207934772	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	154172	207934772	41315849	149	20289										
PPP2R5A	5525	genome.wustl.edu	37	chr1	212502486	212502486	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatttatagatgccacttCaaatgaacaacaagagcttt	5	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:212502486C>A	ENST00000261461.2	+	2	765	c.191C>A	c.(190-192)tCa>tAa	p.S64*	PPP2R5A_ENST00000498129.2_3'UTR|RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000537030.3_Nonsense_Mutation_p.S7*	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	64					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GATGCCACTTCAAATGAACAA	0.289																																																	0													60	60	60					1																	212502486		2203	4299	6502	SO:0001587	stop_gained	5525			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.191C>A	1.37:g.212502486C>A	ENSP00000261461:p.Ser64*		B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Nonsense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.S64*	ENST00000261461.2	37	c.191	CCDS1503.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.053350	0.98629	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.08	5.08	0.68730	.	0.057915	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-7.3316	13.7924	0.63150	0.0:0.9235:0.0:0.0765	.	.	.	.	X	64;64;7	.	ENSP00000261461:S64X	S	+	2	0	PPP2R5A	210569109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.382000	0.81193	0.650000	0.86243	TCA	PPP2R5A	-	pfam_PP2A_B56,pirsf_PP2A_B56		0.289	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5A	HGNC	protein_coding	OTTHUMT00000089302.1	C	NM_006243		212502486	1	no_errors	ENST00000261461	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	212502486	C	A	212502486	4	1	131	1	0	0	0	0	0	1	0	0	12419	838	29	3	197	3	PPP2R5A	1	212502486	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4567714	212502486	36748135	150	20290										
RPS6KC1	26750	genome.wustl.edu	37	chr1	213251114	213251114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattcacaaaaacttattccGacattcagagttgtttcctc	4	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:213251114G>A	ENST00000366960.3	+	3	368	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R61Q|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AACTTATTCCGACATTCAGAG	0.259																																																	0													85	87	86					1																	213251114		2202	4295	6497	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.218G>A	1.37:g.213251114G>A	ENSP00000355927:p.Arg73Gln		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.R73Q	ENST00000366960.3	37	c.218	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091233	0.55968	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.35421	1.31;1.31	5.4	4.47	0.54385	Phox homologous domain (5);	0.128831	0.52532	D	0.000078	T	0.26991	0.0661	L	0.56280	1.765	0.80722	D	1	P;P	0.47841	0.901;0.901	B;B	0.34722	0.188;0.188	T	0.05632	-1.0873	10	0.34782	T	0.22	-22.6554	8.5163	0.33248	0.0774:0.0:0.7683:0.1543	.	73;61	Q96S38;B1APS8	KS6C1_HUMAN;.	Q	73;61	ENSP00000355927:R73Q;ENSP00000355926:R61Q	ENSP00000355926:R61Q	R	+	2	0	RPS6KC1	211317737	1.000000	0.71417	0.926000	0.36857	0.988000	0.76386	5.555000	0.67301	1.224000	0.43551	0.655000	0.94253	CGA	RPS6KC1	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.259	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	G	NM_012424		213251114	1	no_errors	ENST00000366960	ensembl	human	known	70_37	missense	SNP	0.998	A	A	213251114	G	A	213251114	3	1	131	1	0	0	0	0	1	0	0	0	13688	1058	37	1	228	1	RPS6KC1	1	213251114	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	748628	213251114	35999507	151	20291										
CENPF	1063	genome.wustl.edu	37	chr1	214792495	214792495	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagtatgaagatctaaaaGaaaaatataataaagaggtt	7	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:214792495G>T	ENST00000366955.3	+	5	673	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGATCTAAAAGAAAAATATAA	0.328																																					Colon(80;575 1284 11000 14801 43496)												0													33	40	38					1																	214792495		2197	4294	6491	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.505G>T	1.37:g.214792495G>T	ENSP00000355922:p.Glu169*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E169*	ENST00000366955.3	37	c.505	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.579308	0.98371	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.51	5.51	0.81932	.	0.000000	0.39274	N	0.001404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	17.5542	0.87886	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000355922:E169X	E	+	1	0	CENPF	212859118	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.316000	0.79007	2.736000	0.93811	0.655000	0.94253	GAA	CENPF	-	pfam_Centromere_CenpF_N		0.328	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214792495	1	no_errors	ENST00000366955	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	214792495	G	T	214792495	4	4	131	1	0	0	0	0	0	1	0	0	3236	943	33	3	519	3	CENPF	1	214792495	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1541381	214792495	34458126	152	20292										
CENPF	1063	genome.wustl.edu	37	chr1	214830323	214830323	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattaacaactgagatcaaaGaactgaaagaaactcttgaa	6	6	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:214830323G>T	ENST00000366955.3	+	18	8701	c.8533G>T	c.(8533-8535)Gaa>Taa	p.E2845*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2941	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGATCAAAGAACTGAAAGA	0.368																																					Colon(80;575 1284 11000 14801 43496)												0													78	77	78					1																	214830323		2203	4300	6503	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8533G>T	1.37:g.214830323G>T	ENSP00000355922:p.Glu2845*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E2845*	ENST00000366955.3	37	c.8533	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.200418	0.99826	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.23	4.31	0.51392	.	0.247539	0.21024	N	0.081454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.5692	0.45190	0.0721:0.1345:0.7934:0.0	.	.	.	.	X	2845	.	ENSP00000355922:E2845X	E	+	1	0	CENPF	212896946	1.000000	0.71417	0.974000	0.42286	0.147000	0.21601	4.895000	0.63214	1.328000	0.45358	0.561000	0.74099	GAA	CENPF	-	NULL		0.368	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214830323	1	no_errors	ENST00000366955	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	214830323	G	T	214830323	4	4	131	1	0	0	0	0	0	1	0	0	3236	943	33	3	8599	3	CENPF	1	214830323	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	37828	214830323	34420298	153	20293										
USH2A	7399	genome.wustl.edu	37	chr1	216019310	216019310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcaagatttttagagagtCgtttgaggtagcagaactcc	12	6	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:216019310C>T	ENST00000307340.3	-	45	9297	c.8911G>A	c.(8911-8913)Gac>Aac	p.D2971N	USH2A_ENST00000366943.2_Missense_Mutation_p.D2971N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2971	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTAGAGAGTCGTTTGAGGTA	0.398										HNSCC(13;0.011)																																							0													97	95	96					1																	216019310		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8911G>A	1.37:g.216019310C>T	ENSP00000305941:p.Asp2971Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D2971N	ENST00000307340.3	37	c.8911	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669615	0.29693	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	5.91	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460550	0.18186	N	0.148971	T	0.28167	0.0695	N	0.04508	-0.205	0.21064	N	0.999792	B	0.14012	0.009	B	0.08055	0.003	T	0.06698	-1.0812	10	0.32370	T	0.25	.	9.0375	0.36296	0.0:0.8403:0.0:0.1597	.	2971	O75445	USH2A_HUMAN	N	2971	ENSP00000305941:D2971N;ENSP00000355910:D2971N	ENSP00000305941:D2971N	D	-	1	0	USH2A	214085933	0.952000	0.32445	0.983000	0.44433	0.860000	0.49131	1.787000	0.38704	2.793000	0.96121	0.655000	0.94253	GAC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216019310	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.905	T	T	216019310	C	T	216019310	3	4	131	1	0	0	0	0	1	0	0	0	17067	884	31	1	6809	1	USH2A	1	216019310	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1188987	216019310	33231311	154	20294										
USH2A	7399	genome.wustl.edu	37	chr1	216246615	216246615	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgacagcaccccgtgtaaatTtaacatccttcatgcaacca	5	14	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:216246615T>G	ENST00000307340.3	-	28	5986	c.5600A>C	c.(5599-5601)aAa>aCa	p.K1867T	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.K1867T|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1867	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCGTGTAAATTTAACATCCTT	0.443										HNSCC(13;0.011)																																							0													71	59	63					1																	216246615		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5600A>C	1.37:g.216246615T>G	ENSP00000305941:p.Lys1867Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1867T	ENST00000307340.3	37	c.5600	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232433	0.39498	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78126	-1.15;-1.15	5.93	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.287562	0.24352	N	0.039261	T	0.68696	0.3029	M	0.62723	1.935	0.23076	N	0.998338	B	0.19445	0.036	B	0.20767	0.031	T	0.51647	-0.8679	10	0.14252	T	0.57	.	6.9895	0.24748	0.0:0.1382:0.1554:0.7064	.	1867	O75445	USH2A_HUMAN	T	1867	ENSP00000305941:K1867T;ENSP00000355910:K1867T	ENSP00000305941:K1867T	K	-	2	0	USH2A	214313238	0.980000	0.34600	0.053000	0.19242	0.993000	0.82548	0.671000	0.25172	0.145000	0.18977	0.533000	0.62120	AAA	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216246615	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.993	G	G	216246615	T	G	216246615	3	3	131	1	0	0	0	0	1	0	0	0	17067	1841	64	5	10188	5	USH2A	1	216246615	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	227305	216246615	33004006	155	20295										
HHIPL2	79802	genome.wustl.edu	37	chr1	222712003	222712003	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccttacccactcatgaagtCtccaaagatatacaggccat	5	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:222712003C>A	ENST00000343410.6	-	5	1622	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	522					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCATGAAGTCTCCAAAGATA	0.398																																																	0													115	98	104					1																	222712003		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1564G>T	1.37:g.222712003C>A	ENSP00000342118:p.Asp522Tyr		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.D522Y	ENST00000343410.6	37	c.1564	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523494	0.85600	.	.	ENSG00000143512	ENST00000343410	T	0.13196	2.61	5.2	5.2	0.72013	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66945	-0.5795	10	0.87932	D	0	-36.2899	18.328	0.90260	0.0:1.0:0.0:0.0	.	522	Q6UWX4	HIPL2_HUMAN	Y	522	ENSP00000342118:D522Y	ENSP00000342118:D522Y	D	-	1	0	HHIPL2	220778626	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.301000	0.78850	2.391000	0.81399	0.591000	0.81541	GAC	HHIPL2	-	pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH		0.398	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	C	NM_024746		222712003	-1	no_errors	ENST00000343410	ensembl	human	known	70_37	missense	SNP	1.000	A	A	222712003	C	A	222712003	3	1	131	1	0	0	0	0	1	0	0	0	7114	913	32	3	630	3	HHIPL2	1	222712003	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6465388	222712003	26538618	156	20296										
SUSD4	55061	genome.wustl.edu	37	chr1	223396729	223396729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actttggagcagctcagaagAgcctgagacgctgtcacagg	13	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:223396729A>C	ENST00000343846.3	-	7	1939	c.1306T>G	c.(1306-1308)Tct>Gct	p.S436A	SUSD4_ENST00000366878.4_Missense_Mutation_p.S436A|SUSD4_ENST00000494793.2_Missense_Mutation_p.S436A|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.S367A|SUSD4_ENST00000454695.2_Missense_Mutation_p.S276A			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	436						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCTCAGAAGAGCCTGAGACG	0.612																																																	0													53	60	58					1																	223396729		2022	4167	6189	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1306T>G	1.37:g.223396729A>C	ENSP00000344219:p.Ser436Ala		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S436A	ENST00000343846.3	37	c.1306	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097183	0.37048	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.34859	1.34;1.34;1.44	5.16	5.16	0.70880	.	0.136787	0.34223	N	0.004145	T	0.32285	0.0824	L	0.46157	1.445	0.80722	D	1	P	0.44006	0.824	B	0.38803	0.282	T	0.08086	-1.0739	9	.	.	.	-16.117	14.6832	0.69033	1.0:0.0:0.0:0.0	.	436	Q5VX71	SUSD4_HUMAN	A	436;436;367;276	ENSP00000344219:S436A;ENSP00000355843:S436A;ENSP00000399288:S276A	.	S	-	1	0	SUSD4	221463352	1.000000	0.71417	0.789000	0.31954	0.240000	0.25518	2.658000	0.46733	1.949000	0.56562	0.533000	0.62120	TCT	SUSD4	-	NULL		0.612	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	A	NM_017982		223396729	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	missense	SNP	1.000	C	C	223396729	A	C	223396729	3	2	131	1	0	0	0	0	1	0	0	0	15440	304	11	5	174	5	SUSD4	1	223396729	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	684726	223396729	25853892	157	20297										
WDR26	80232	genome.wustl.edu	37	chr1	224612233	224612233	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccttacccactaagaacatGaatgcgctctgtattgtatt	6	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:224612233G>T	ENST00000414423.2	-	4	944	c.751C>A	c.(751-753)Cat>Aat	p.H251N	WDR26_ENST00000295024.6_Missense_Mutation_p.H104N|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	251						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTAAGAACATGAATGCGCTCT	0.403																																																	0													107	96	100					1																	224612233		2203	4300	6503	SO:0001583	missense	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.751C>A	1.37:g.224612233G>T	ENSP00000408108:p.His251Asn		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H251N	ENST00000414423.2	37	c.751	CCDS31037.2	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719050	0.89205	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000445239	T;T	0.71341	-0.56;-0.26	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.85041	2.73	0.80722	D	1	P;P	0.49961	0.93;0.708	P;B	0.45881	0.496;0.269	T	0.80591	-0.1314	10	0.42905	T	0.14	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	251;235	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	N	251;104;104	ENSP00000408108:H251N;ENSP00000295024:H104N	ENSP00000295024:H104N	H	-	1	0	WDR26	222678856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	CAT	WDR26	-	NULL		0.403	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	G	NM_025160		224612233	-1	no_errors	ENST00000414423	ensembl	human	known	70_37	missense	SNP	1.000	T	T	224612233	G	T	224612233	3	4	131	1	0	0	0	0	1	0	0	0	17314	1290	45	3	1278	3	WDR26	1	224612233	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1215504	224612233	24638388	158	20298										
CNIH3	149111	genome.wustl.edu	37	chr1	224918219	224918219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgcattatgttcctgtgtgCgcaagagtggctcacgctgg	13	10	1	1	rs529360966		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:224918219C>T	ENST00000272133.3	+	4	1136	c.254C>T	c.(253-255)gCg>gTg	p.A85V	RP11-3L21.2_ENST00000431691.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	85					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TTCCTGTGTGCGCAAGAGTGG	0.512													C|||	1	0.000199681	0	0	5008	,	,		21932	0		0	False		,,,				2504	0.001																0													146	113	124					1																	224918219		2201	4286	6487	SO:0001583	missense	149111			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.254C>T	1.37:g.224918219C>T	ENSP00000272133:p.Ala85Val			Missense_Mutation	SNP	pfam_Cornichon	p.A85V	ENST00000272133.3	37	c.254	CCDS1544.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.074928	0.94000	.	.	ENSG00000143786	ENST00000272133	T	0.44083	0.93	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.71581	2.175	0.80722	D	1	D	0.58970	0.984	P	0.51974	0.686	T	0.58476	-0.7630	10	0.39692	T	0.17	-13.7486	17.5583	0.87898	0.0:1.0:0.0:0.0	.	85	Q8TBE1	CNIH3_HUMAN	V	85	ENSP00000272133:A85V	ENSP00000272133:A85V	A	+	2	0	CNIH3	222984842	1.000000	0.71417	0.617000	0.29091	0.970000	0.65996	7.818000	0.86416	2.121000	0.65114	0.650000	0.86243	GCG	CNIH3	-	pfam_Cornichon		0.512	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNIH3	HGNC	protein_coding	OTTHUMT00000091752.2	C	NM_152495		224918219	1	no_errors	ENST00000272133	ensembl	human	known	70_37	missense	SNP	1.000	T	T	224918219	C	T	224918219	3	4	131	1	0	0	0	0	1	0	0	0	3609	768	27	2	268	2	CNIH3	1	224918219	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	305986	224918219	24332402	159	20299										
CDC42BPA	8476	genome.wustl.edu	37	chr1	227213836	227213836	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attttcactgtacaccgagaGatatggtgcattgtaacctg	9	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227213836G>T	ENST00000366769.3	-	30	5636	c.4345C>A	c.(4345-4347)Ctc>Atc	p.L1449I	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L1368I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L1421I|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L1449I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L1462I|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L1429I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L1484I	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACACCGAGAGATATGGTGCA	0.378																																																	0													85	84	84					1																	227213836		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4345C>A	1.37:g.227213836G>T	ENSP00000355731:p.Leu1449Ile			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L1449I	ENST00000366769.3	37	c.4345	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.65|19.65	3.867527|3.867527	0.72065|0.72065	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.06449|.	3.3;3.3;3.3;3.3;3.3;3.3;3.3|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.134082|.	0.51477|.	D|.	0.000092|.	T|T	0.73745|0.73745	0.3626|0.3626	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999997|0.999997	D;D;P;D;P;P;P;D|.	0.76494|.	0.999;0.999;0.857;0.985;0.926;0.828;0.828;0.999|.	D;D;P;D;P;B;B;D|.	0.87578|.	0.995;0.998;0.498;0.951;0.835;0.365;0.365;0.998|.	T|T	0.73260|0.73260	-0.4039|-0.4039	10|5	0.72032|.	D|.	0.01|.	.|.	14.9518|14.9518	0.71080|0.71080	0.0:0.1424:0.8576:0.0|0.0:0.1424:0.8576:0.0	.|.	1429;1421;764;346;1368;1449;1484;651|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	I|Y	1449;1368;1449;1484;1421;764;1429;1462|651;777;346;673	ENSP00000355731:L1449I;ENSP00000355729:L1368I;ENSP00000335341:L1449I;ENSP00000355728:L1484I;ENSP00000355726:L1421I;ENSP00000443275:L1429I;ENSP00000355727:L1462I|.	ENSP00000335341:L1449I|.	L|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225280459|225280459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.667000|0.667000	0.39255|0.39255	5.359000|5.359000	0.66074|0.66074	2.599000|2.599000	0.87857|0.87857	0.650000|0.650000	0.86243|0.86243	CTC|TCT	CDC42BPA	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	G	NM_014826		227213836	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	227213836	G	T	227213836	3	4	131	1	0	0	0	0	1	0	0	0	3077	942	33	3	842	3	CDC42BPA	1	227213836	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2295617	227213836	22036785	160	20300										
CDC42BPA	8476	genome.wustl.edu	37	chr1	227333339	227333339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttaaagtcttctattccatTttgaccaagtcgatgttctc	5	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227333339T>G	ENST00000366769.3	-	8	2285	c.994A>C	c.(994-996)Aat>Cat	p.N332H	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.N332H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.N332H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.N332H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.N332H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.N332H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.N332H	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTATTCCATTTTGACCAAGT	0.403																																																	0													117	112	113					1																	227333339		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.994A>C	1.37:g.227333339T>G	ENSP00000355731:p.Asn332His			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.N332H	ENST00000366769.3	37	c.994	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298363	0.81025	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68903	-0.34;-0.29;-0.34;-0.34;-0.36;-0.32;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	L	0.50993	1.605	0.80722	D	1	D;D;D;B	0.71674	0.997;0.998;0.988;0.318	D;D;D;B	0.81914	0.995;0.989;0.99;0.382	T	0.79697	-0.1695	10	0.66056	D	0.02	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	332;332;332;332	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	H	332	ENSP00000355731:N332H;ENSP00000355729:N332H;ENSP00000335341:N332H;ENSP00000355728:N332H;ENSP00000355726:N332H;ENSP00000443275:N332H;ENSP00000355727:N332H	ENSP00000335341:N332H	N	-	1	0	CDC42BPA	225399962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	AAT	CDC42BPA	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.403	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	T	NM_014826		227333339	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	G	G	227333339	T	G	227333339	3	3	131	1	0	0	0	0	1	0	0	0	3077	1841	64	5	4281	5	CDC42BPA	1	227333339	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	119503	227333339	21917282	161	20301										
ZNF678	339500	genome.wustl.edu	37	chr1	227842267	227842267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtattgaatgtggcagaaatTttagctggaggtcaatcctt	11	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227842267T>G	ENST00000343776.5	+	4	661	c.316T>G	c.(316-318)Ttt>Gtt	p.F106V	ZNF678_ENST00000397097.3_Missense_Mutation_p.F161V|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TGGCAGAAATTTTAGCTGGAG	0.348																																																	0													68	73	71					1																	227842267		2203	4299	6502	SO:0001583	missense	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.316T>G	1.37:g.227842267T>G	ENSP00000344828:p.Phe106Val		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F161V	ENST00000343776.5	37	c.481		1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971033	0.34754	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.28895	2.56;2.56;1.59	1.15	-0.0556	0.13809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33818	0.0876	L	0.42686	1.345	0.20074	N	0.999939	D	0.58970	0.984	P	0.55785	0.784	T	0.16928	-1.0386	9	0.72032	D	0.01	.	4.4496	0.11614	0.0:0.2179:0.0:0.7821	.	106	Q5SXM1	ZN678_HUMAN	V	106;161;161	ENSP00000344828:F106V;ENSP00000440403:F161V;ENSP00000394651:F161V	ENSP00000344828:F106V	F	+	1	0	ZNF678	225908890	0.837000	0.29446	0.001000	0.08648	0.000000	0.00434	2.872000	0.48467	-0.029000	0.13827	-0.322000	0.08575	TTT	ZNF678	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	T	NM_178549		227842267	1	no_errors	ENST00000397097	ensembl	human	known	70_37	missense	SNP	0.355	G	G	227842267	T	G	227842267	3	3	131	1	0	0	0	0	1	0	0	0	18115	1841	64	5	495	5	ZNF678	1	227842267	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	508928	227842267	21408354	162	20302										
PRSS38	339501	genome.wustl.edu	37	chr1	228003518	228003518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccccgggtcgcagcattggTccacagacagccagagaacc	11	15	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228003518T>C	ENST00000366757.3	+	1	125	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	34						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCAGCATTGGTCCACAGACAG	0.692																																																	0													29	31	31					1																	228003518		2203	4300	6503	SO:0001583	missense	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.101T>C	1.37:g.228003518T>C	ENSP00000355719:p.Val34Ala		Q7RTY6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.V34A	ENST00000366757.3	37	c.101	CCDS1563.1	1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.527922	0.00959	.	.	ENSG00000185888	ENST00000366757	D	0.88124	-2.34	2.46	-4.75	0.03239	.	1.834660	0.03346	N	0.195473	T	0.60534	0.2276	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63739	-0.6569	10	0.02654	T	1	.	0.9496	0.01373	0.1879:0.3915:0.2039:0.2168	.	34	A1L453	PRS38_HUMAN	A	34	ENSP00000355719:V34A	ENSP00000355719:V34A	V	+	2	0	PRSS38	226070141	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.344000	0.07780	-0.978000	0.03533	-0.476000	0.04901	GTC	PRSS38	-	NULL		0.692	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	T	NM_183062		228003518	1	no_errors	ENST00000366757	ensembl	human	known	70_37	missense	SNP	0.000	C	C	228003518	T	C	228003518	3	2	131	1	0	0	0	0	1	0	0	0	12654	1667	58	5	103	5	PRSS38	1	228003518	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	161251	228003518	21247103	163	20303										
OBSCN	84033	genome.wustl.edu	37	chr1	228434252	228434252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaaggcagtgtttgccaagGagcagttggtgcataatgag	14	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228434252G>A	ENST00000422127.1	+	13	3825	c.3781G>A	c.(3781-3783)Gag>Aag	p.E1261K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1261K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E1353K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1261	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTGCCAAGGAGCAGTTGGT	0.577																																																	0													98	97	97					1																	228434252		2064	4190	6254	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3781G>A	1.37:g.228434252G>A	ENSP00000409493:p.Glu1261Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E1261K	ENST00000422127.1	37	c.3781	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.936303	0.34189	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.61510	0.53;0.1	4.84	3.93	0.45458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.423339	0.23226	N	0.050519	T	0.42630	0.1211	N	0.22421	0.69	0.80722	D	1	P;B	0.42078	0.77;0.104	P;B	0.48627	0.584;0.116	T	0.41448	-0.9508	10	0.07644	T	0.81	.	4.1237	0.10118	0.3062:0.1729:0.5209:0.0	.	1261;1261	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1261	ENSP00000284548:E1261K;ENSP00000409493:E1261K	ENSP00000284548:E1261K	E	+	1	0	OBSCN	226500875	1.000000	0.71417	0.992000	0.48379	0.330000	0.28571	1.446000	0.35090	1.012000	0.39366	0.563000	0.77884	GAG	OBSCN	-	pfscan_Ig-like		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228434252	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228434252	G	A	228434252	3	1	131	1	0	0	0	0	1	0	0	0	10836	1175	41	1	3827	1	OBSCN	1	228434252	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	430734	228434252	20816369	164	20304										
OBSCN	84033	genome.wustl.edu	37	chr1	228474614	228474614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaccctgcgggggtctgccCggtgccagctgagccatgag	16	13	1	3	rs367727238	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228474614C>T	ENST00000422127.1	+	35	9462	c.9418C>T	c.(9418-9420)Cgg>Tgg	p.R3140W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3140W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R259W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1987W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3569W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R259W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3140	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGTCTGCCCGGTGCCAGCT	0.657													C|||	13	0.00259585	0	0	5008	,	,		17488	0		0	False		,,,				2504	0.0133																0													27	32	30					1																	228474614		1984	4147	6131	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9418C>T	1.37:g.228474614C>T	ENSP00000409493:p.Arg3140Trp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R3140W	ENST00000422127.1	37	c.9418	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007086	0.54361	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.17	0.517	0.17025	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075529	0.50627	D	0.000118	D	0.87822	0.6274	H	0.96805	3.885	0.31307	N	0.687628	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.978	D	0.88504	0.3084	10	0.72032	D	0.01	.	13.8066	0.63236	0.733:0.2669:0.0:0.0	.	3140;3140	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	3140;3140;259;259;1987	ENSP00000284548:R3140W;ENSP00000409493:R3140W;ENSP00000355668:R259W;ENSP00000355670:R259W;ENSP00000352613:R1987W	ENSP00000284548:R3140W	R	+	1	2	OBSCN	226541237	0.973000	0.33851	0.809000	0.32408	0.037000	0.13140	1.725000	0.38074	0.262000	0.21774	0.561000	0.74099	CGG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228474614	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.993	T	T	228474614	C	T	228474614	3	4	131	1	0	0	0	0	1	0	0	0	10836	643	23	2	9552	2	OBSCN	1	228474614	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	40362	228474614	20776007	165	20305										
OBSCN	84033	genome.wustl.edu	37	chr1	228547665	228547665	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaggagctcatcggggcatCtcttcacactgcccggtgcg	12	15	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228547665C>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.L6358I|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3477I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATCGGGGCATCTCTTCACACT	0.642																																																	0													20	23	22					1																	228547665		1915	4116	6031	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2612C>A	1.37:g.228547665C>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain	p.L3477I	ENST00000422127.1	37	c.10429	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	9.905	1.207981	0.22205	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.56611	0.45;0.59	4.3	2.36	0.29203	.	.	.	.	.	T	0.43853	0.1266	L	0.57536	1.79	0.09310	N	1	B	0.28933	0.228	B	0.21917	0.037	T	0.35475	-0.9787	9	0.45353	T	0.12	.	6.2851	0.21029	0.3491:0.3033:0.3476:0.0	.	6358	Q5VST9-3	.	I	6358;3477	ENSP00000284548:L6358I;ENSP00000355670:L3477I	ENSP00000284548:L6358I	L	+	1	0	OBSCN	226614288	0.003000	0.15002	0.057000	0.19452	0.015000	0.08874	0.672000	0.25187	1.004000	0.39156	0.563000	0.77884	CTC	OBSCN	-	NULL		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228547665	1	no_errors	ENST00000366709	ensembl	human	known	70_37	missense	SNP	0.004	A	A	228547665	C	A	228547665	1	1	131	0	1	0	0	0	0	0	0	0	10836	913	32	3		3	OBSCN	1	228547665	Intron	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	73051	228547665	20702956	166	20306										
URB2	9816	genome.wustl.edu	37	chr1	229771669	229771669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctggcttcagcgtggatcGatgccgaggtaacagagttt	14	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:229771669G>A	ENST00000258243.2	+	4	1445	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	437						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGCGTGGATCGATGCCGAGGT	0.502																																																	0													72	81	78					1																	229771669		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1309G>A	1.37:g.229771669G>A	ENSP00000258243:p.Asp437Asn		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.D437N	ENST00000258243.2	37	c.1309	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025693	0.54683	.	.	ENSG00000135763	ENST00000258243	T	0.32515	1.45	5.35	5.35	0.76521	.	0.213846	0.48286	D	0.000192	T	0.31606	0.0802	M	0.64997	1.995	0.45366	D	0.998357	D	0.58620	0.983	B	0.40285	0.325	T	0.11299	-1.0593	9	.	.	.	-20.3294	14.3214	0.66489	0.0:0.0:0.8517:0.1483	.	437	Q14146	URB2_HUMAN	N	437	ENSP00000258243:D437N	.	D	+	1	0	URB2	227838292	1.000000	0.71417	0.966000	0.40874	0.914000	0.54420	4.019000	0.57181	2.684000	0.91462	0.650000	0.86243	GAT	URB2	-	NULL		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	G	NM_014777		229771669	1	no_errors	ENST00000258243	ensembl	human	known	70_37	missense	SNP	0.980	A	A	229771669	G	A	229771669	3	1	131	1	0	0	0	0	1	0	0	0	17056	1058	37	1	1319	1	URB2	1	229771669	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1224004	229771669	19478952	167	20307										
TRIM67	440730	genome.wustl.edu	37	chr1	231344807	231344807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtggtgctgggcacagctgCgttctccaagggcgtgcact	16	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:231344807C>T	ENST00000366653.5	+	8	1934	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	TRIM67_ENST00000449018.3_Missense_Mutation_p.A583V|TRIM67_ENST00000366652.2_Missense_Mutation_p.A645V|TRIM67_ENST00000444294.3_Missense_Mutation_p.A643V			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	645	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGCACAGCTGCGTTCTCCAAG	0.617																																																	0													90	99	96					1																	231344807		2179	4282	6461	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1934C>T	1.37:g.231344807C>T	ENSP00000355613:p.Ala645Val		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A645V	ENST00000366653.5	37	c.1934	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974860	0.74360	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	L	0.52266	1.64	0.80722	D	1	D	0.61697	0.99	P	0.53760	0.734	T	0.77749	-0.2471	10	0.41790	T	0.15	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	645	Q6ZTA4	TRI67_HUMAN	V	643;645;583;645	ENSP00000412124:A643V;ENSP00000355612:A645V;ENSP00000400163:A583V;ENSP00000355613:A645V	ENSP00000355612:A645V	A	+	2	0	TRIM67	229411430	1.000000	0.71417	0.269000	0.24586	0.110000	0.19582	4.755000	0.62198	2.854000	0.98071	0.655000	0.94253	GCG	TRIM67	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.617	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	C	NM_001004342		231344807	1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	0.998	T	T	231344807	C	T	231344807	3	4	131	1	0	0	0	0	1	0	0	0	16571	768	27	2	1964	2	TRIM67	1	231344807	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1573138	231344807	17905814	168	20308										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232650491	232650491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accagataagccttgcctgtCgatggatgaagtacttccat	9	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:232650491C>T	ENST00000366630.1	-	2	953	c.595G>A	c.(595-597)Gac>Aac	p.D199N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D199N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	199					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTTGCCTGTCGATGGATGAA	0.473																																																	0													128	124	125					1																	232650491		1909	4126	6035	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.595G>A	1.37:g.232650491C>T	ENSP00000355589:p.Asp199Asn		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.D199N	ENST00000366630.1	37	c.595	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070852	0.55539	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.44482	0.92;0.92	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.31926	0.97	0.58432	D	0.999994	P	0.46656	0.882	B	0.41299	0.353	T	0.22730	-1.0208	10	0.48119	T	0.1	-46.5195	18.9136	0.92496	0.0:1.0:0.0:0.0	.	199	Q9P2F8	SI1L2_HUMAN	N	199	ENSP00000355589:D199N;ENSP00000262861:D199N	ENSP00000262861:D199N	D	-	1	0	SIPA1L2	230717114	1.000000	0.71417	0.987000	0.45799	0.853000	0.48598	5.895000	0.69814	2.708000	0.92522	0.650000	0.86243	GAC	SIPA1L2	-	NULL		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232650491	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	0.999	T	T	232650491	C	T	232650491	3	4	131	1	0	0	0	0	1	0	0	0	14360	884	31	1	4657	1	SIPA1L2	1	232650491	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1305684	232650491	16600130	169	20309										
KIAA1383	54627	genome.wustl.edu	37	chr1	232941134	232941134	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgctccggtttctcgtgaGaccccggggcttcagcttct	11	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:232941134G>T	ENST00000418460.1	+	1	492	c.365G>T	c.(364-366)aGa>aTa	p.R122I		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTTCTCGTGAGACCCCGGGGC	0.647																																																	0													24	27	26					1																	232941134		1908	4118	6026	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.365G>T	1.37:g.232941134G>T	ENSP00000403208:p.Arg122Ile		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.R122I	ENST00000418460.1	37	c.365	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547072	0.65198	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.02	4.1	0.47936	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.42581	D	0.993215	.	.	.	.	.	.	T	0.74825	-0.3533	5	0.54805	T	0.06	.	13.1933	0.59723	0.0:0.0:0.8405:0.1595	.	.	.	.	I	122	.	ENSP00000403208:R122I	R	+	2	0	KIAA1383	231007757	1.000000	0.71417	0.998000	0.56505	0.124000	0.20399	3.586000	0.53950	1.237000	0.43756	0.313000	0.20887	AGA	KIAA1383	-	NULL		0.647	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	G	NM_019090		232941134	1	no_errors	ENST00000418460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	232941134	G	T	232941134	3	4	131	1	0	0	0	0	1	0	0	0	8248	942	33	3	367	3	KIAA1383	1	232941134	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	290643	232941134	16309487	170	20310										
B3GALNT2	148789	genome.wustl.edu	37	chr1	235613545	235613545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttgcttgacatcgacaaggAtcaccgcaccgttccttcag	8	14	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:235613545A>C	ENST00000366600.3	-	12	1707	c.1479T>G	c.(1477-1479)gaT>gaG	p.D493E		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	493					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ATCGACAAGGATCACCGCACC	0.498																																																	0													137	124	128					1																	235613545		2203	4300	6503	SO:0001583	missense	148789			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1479T>G	1.37:g.235613545A>C	ENSP00000355559:p.Asp493Glu		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.D493E	ENST00000366600.3	37	c.1479	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853193	0.71719	.	.	ENSG00000162885	ENST00000366600	T	0.58210	0.35	5.34	-4.45	0.03546	.	0.188457	0.56097	D	0.000034	T	0.45296	0.1335	L	0.56769	1.78	0.80722	D	1	P	0.48911	0.917	B	0.43575	0.424	T	0.52373	-0.8584	10	0.32370	T	0.25	-26.2828	14.3025	0.66362	0.7365:0.0:0.2635:0.0	.	493	Q8NCR0	B3GL2_HUMAN	E	493	ENSP00000355559:D493E	ENSP00000355559:D493E	D	-	3	2	B3GALNT2	233680168	0.228000	0.23718	0.094000	0.20943	0.078000	0.17371	-0.374000	0.07484	-0.830000	0.04262	-0.371000	0.07208	GAT	B3GALNT2	-	NULL		0.498	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALNT2	HGNC	protein_coding	OTTHUMT00000097376.1	A	NM_152490		235613545	-1	no_errors	ENST00000366600	ensembl	human	known	70_37	missense	SNP	0.953	C	C	235613545	A	C	235613545	3	2	131	1	0	0	0	0	1	0	0	0	1247	330	12	5	27	5	B3GALNT2	1	235613545	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2672411	235613545	13637076	171	20311										
RYR2	6262	genome.wustl.edu	37	chr1	237870322	237870322	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagaaactcatggaagaaatCgtggaattagccgagtccgg	13	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:237870322C>T	ENST00000366574.2	+	68	9971	c.9654C>T	c.(9652-9654)atC>atT	p.I3218I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3218					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I3216I(1)|p.I3218I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAAGAAATCGTGGAATTAG	0.453																																																	2	Substitution - coding silent(2)	prostate(2)											130	127	128					1																	237870322		1940	4154	6094	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9654C>T	1.37:g.237870322C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.I3216	ENST00000366574.2	37	c.9648	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237870322	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	0.124	T	T	237870322	C	T	237870322	2	4	131	1	0	0	0	0	0	0	0	1	13799	874	31	1		1	RYR2	1	237870322	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2256777	237870322	11380299	172	20312										
RYR2	6262	genome.wustl.edu	37	chr1	237905645	237905645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaagaggaagtgaagagttTtgaagtaagatggatctttc	13	2	1	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:237905645T>C	ENST00000366574.2	+	80	11458	c.11141T>C	c.(11140-11142)tTt>tCt	p.F3714S	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.F3712S|RYR2_ENST00000542537.1_Missense_Mutation_p.F3698S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3714					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGAAGAGTTTTGAAGTAAGA	0.318																																																	0													204	219	215					1																	237905645		1896	4100	5996	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11141T>C	1.37:g.237905645T>C	ENSP00000355533:p.Phe3714Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F3712S	ENST00000366574.2	37	c.11135	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716178	0.48622	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96940	-4.18;-4.02;-4.17	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000003	D	0.97480	0.9175	M	0.77616	2.38	0.80722	D	1	D;B	0.76494	0.999;0.113	D;B	0.79784	0.993;0.018	D	0.96833	0.9612	10	0.11485	T	0.65	-16.6182	14.048	0.64716	0.0:0.0:0.0:1.0	.	669;3714	B4DGV4;Q92736	.;RYR2_HUMAN	S	3714;3712;3698;669	ENSP00000355533:F3714S;ENSP00000353174:F3712S;ENSP00000443798:F3698S	ENSP00000353174:F3712S	F	+	2	0	RYR2	235972268	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.244000	0.65400	2.250000	0.74265	0.477000	0.44152	TTT	RYR2	-	NULL		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	T	NM_001035		237905645	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	C	C	237905645	T	C	237905645	3	2	131	1	0	0	0	0	1	0	0	0	13799	1841	64	5	11459	5	RYR2	1	237905645	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	35323	237905645	11344976	173	20313										
C1orf101	257044	genome.wustl.edu	37	chr1	244643083	244643083	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttctgtggtactatagagTtaggtaagtaatgcagtact	10	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:244643083T>G	ENST00000366534.4	+	5	377	c.323T>G	c.(322-324)gTt>gGt	p.V108G	C1orf101_ENST00000366531.3_5'UTR|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.V108G	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	108						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TACTATAGAGTTAGGTAAGTA	0.294																																																	0													134	135	134					1																	244643083		2202	4297	6499	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.323T>G	1.37:g.244643083T>G	ENSP00000355492:p.Val108Gly		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.V108G	ENST00000366534.4	37	c.323	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	t	12.01	1.809343	0.31961	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.37235	1.25;1.25;1.21	4.27	0.727	0.18254	.	0.690815	0.12518	N	0.461930	T	0.38427	0.1040	L	0.47716	1.5	0.21416	N	0.999699	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.52217	0.693;0.693;0.693	T	0.20438	-1.0275	10	0.72032	D	0.01	.	6.5302	0.22322	0.0:0.2712:0.0:0.7288	.	98;108;108	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	G	108;108;108;98	ENSP00000355492:V108G;ENSP00000355491:V108G;ENSP00000395796:V98G	ENSP00000355491:V108G	V	+	2	0	C1orf101	242709706	0.000000	0.05858	0.001000	0.08648	0.504000	0.33889	0.005000	0.13129	0.109000	0.17891	-0.349000	0.07799	GTT	C1orf101	-	NULL		0.294	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	T	NM_173807		244643083	1	no_errors	ENST00000366534	ensembl	human	known	70_37	missense	SNP	0.001	G	G	244643083	T	G	244643083	3	3	131	1	0	0	0	0	1	0	0	0	1981	1725	60	5	341	5	C1orf101	1	244643083	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6737438	244643083	4607538	174	20314										
C1orf101	257044	genome.wustl.edu	37	chr1	244736009	244736009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtggaatcttatggcccaAaaatattacaagagagtcat	8	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:244736009A>C	ENST00000366534.4	+	11	1939	c.1885A>C	c.(1885-1887)Aaa>Caa	p.K629Q	C1orf101_ENST00000366531.3_Missense_Mutation_p.K478Q|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.K629Q	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	629						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTATGGCCCAAAAATATTACA	0.363																																																	0													46	47	47					1																	244736009		2202	4300	6502	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1885A>C	1.37:g.244736009A>C	ENSP00000355492:p.Lys629Gln		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.K629Q	ENST00000366534.4	37	c.1885	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	A	4.463	0.085858	0.08583	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.06	2.6	0.31112	.	0.898762	0.09425	N	0.803817	T	0.23727	0.0574	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.25312	0.123;0.041;0.041;0.017	B;B;B;B	0.23716	0.023;0.032;0.048;0.013	T	0.25363	-1.0134	10	0.31617	T	0.26	.	10.0262	0.42072	0.7202:0.2798:0.0:0.0	.	549;629;629;478	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	Q	629;629;629;549;478	ENSP00000355492:K629Q;ENSP00000355491:K629Q;ENSP00000395796:K549Q;ENSP00000355489:K478Q	ENSP00000355489:K478Q	K	+	1	0	C1orf101	242802632	0.677000	0.27577	0.003000	0.11579	0.017000	0.09413	0.348000	0.20031	0.277000	0.22141	0.455000	0.32223	AAA	C1orf101	-	NULL		0.363	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	A	NM_173807		244736009	1	no_errors	ENST00000366534	ensembl	human	known	70_37	missense	SNP	0.279	C	C	244736009	A	C	244736009	3	2	131	1	0	0	0	0	1	0	0	0	1981	15	1	5	1927	5	C1orf101	1	244736009	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	92926	244736009	4514612	175	20315										
HNRNPU	3192	genome.wustl.edu	37	chr1	245022598	245022598	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtaacattccacttgtagTtagtgaccagccaatacgaa	7	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:245022598T>G	ENST00000283179.9	-	5	1259	c.1096A>C	c.(1096-1098)Act>Cct	p.T366P	HNRNPU_ENST00000444376.2_Missense_Mutation_p.T347P			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	366	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCACTTGTAGTTAGTGACCAG	0.363																																					NSCLC(33;911 1010 3329 23631 49995)												0													117	119	118					1																	245022598		2203	4300	6503	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1096A>C	1.37:g.245022598T>G	ENSP00000283179:p.Thr366Pro		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.T366P	ENST00000283179.9	37	c.1096	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159970	0.38119	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.69040	-0.37;-0.37;-0.37	5.53	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.261566	0.44483	D	0.000449	T	0.33206	0.0855	N	0.01257	-0.925	0.32922	D	0.515938	B;B;B;P	0.39601	0.347;0.019;0.024;0.68	B;B;B;B	0.35607	0.022;0.002;0.004;0.206	T	0.45963	-0.9225	10	0.23891	T	0.37	-8.5483	9.4459	0.38697	0.0:0.1433:0.0:0.8567	.	291;347;366;90	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	P	347;366;291;143	ENSP00000393151:T347P;ENSP00000283179:T366P;ENSP00000410728:T143P	ENSP00000283179:T366P	T	-	1	0	HNRNPU	243089221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.032000	0.49736	1.040000	0.40099	0.482000	0.46254	ACT	HNRNPU	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.363	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	T	NM_031844		245022598	-1	no_errors	ENST00000283179	ensembl	human	known	70_37	missense	SNP	0.995	G	G	245022598	T	G	245022598	3	3	131	1	0	0	0	0	1	0	0	0	7293	1725	60	5	1421	5	HNRNPU	1	245022598	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	286589	245022598	4228023	176	20316										
OR1C1	26188	genome.wustl.edu	37	chr1	247920819	247920819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttctgaagtcccctcttcAtatccctgttccttagggta	6	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:247920819A>G	ENST00000408896.2	-	1	1163	c.890T>C	c.(889-891)aTg>aCg	p.M297T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	297					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCCCTCTTCATATCCCTGTT	0.428																																																	0													146	135	138					1																	247920819		1913	4141	6054	SO:0001583	missense	26188			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.890T>C	1.37:g.247920819A>G	ENSP00000386138:p.Met297Thr		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M297T	ENST00000408896.2	37	c.890	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811522	0.32053	.	.	ENSG00000221888	ENST00000408896	T	0.37411	1.2	3.22	3.22	0.36961	.	.	.	.	.	T	0.50497	0.1619	M	0.65975	2.015	0.09310	N	1	P	0.51933	0.949	P	0.55545	0.778	T	0.38929	-0.9638	9	0.87932	D	0	.	11.6139	0.51078	1.0:0.0:0.0:0.0	.	297	Q15619	OR1C1_HUMAN	T	297	ENSP00000386138:M297T	ENSP00000386138:M297T	M	-	2	0	OR1C1	245987442	0.038000	0.19896	0.245000	0.24217	0.177000	0.22998	3.374000	0.52402	1.466000	0.48025	0.482000	0.46254	ATG	OR1C1	-	prints_GPCR_Rhodpsn		0.428	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	A			247920819	-1	no_errors	ENST00000408896	ensembl	human	known	70_37	missense	SNP	0.092	G	G	247920819	A	G	247920819	3	3	131	1	0	0	0	0	1	0	0	0	10976	217	8	5	56	5	OR1C1	1	247920819	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2898221	247920819	1329802	177	20317										
TRIM58	25893	genome.wustl.edu	37	chr1	248039699	248039699	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgtgatgcaactcctcttAtcttgccacccacaacaata	4	14	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248039699A>T	ENST00000366481.3	+	6	1417	c.1369A>T	c.(1369-1371)Atc>Ttc	p.I457F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACTCCTCTTATCTTGCCACC	0.408																																																	0													126	120	122					1																	248039699		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1369A>T	1.37:g.248039699A>T	ENSP00000355437:p.Ile457Phe		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I457F	ENST00000366481.3	37	c.1369	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849020	0.32699	.	.	ENSG00000162722	ENST00000366481	T	0.61158	0.13	4.05	-4.63	0.03359	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.750321	0.12128	N	0.497058	T	0.49558	0.1564	L	0.33293	1	0.09310	N	1	P	0.50272	0.933	P	0.57057	0.812	T	0.43294	-0.9400	10	0.49607	T	0.09	.	2.2418	0.04022	0.2818:0.1545:0.4132:0.1505	.	457	Q8NG06	TRI58_HUMAN	F	457	ENSP00000355437:I457F	ENSP00000355437:I457F	I	+	1	0	TRIM58	246106322	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	0.819000	0.27308	-0.957000	0.03627	-0.280000	0.10049	ATC	TRIM58	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.408	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	A	NM_015431		248039699	1	no_errors	ENST00000366481	ensembl	human	known	70_37	missense	SNP	0.000	T	T	248039699	A	T	248039699	3	4	131	1	0	0	0	0	1	0	0	0	16562	449	16	5	1391	5	TRIM58	1	248039699	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	118880	248039699	1210922	178	20318										
OR2M5	127059	genome.wustl.edu	37	chr1	248308725	248308725	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtctggcagcaagtccatTtctatggctggttgtgccac	11	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248308725T>G	ENST00000366476.1	+	1	276	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCAAGTCCATTTCTATGGCTG	0.463																																																	0													310	305	306					1																	248308725		2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.276T>G	1.37:g.248308725T>G	ENSP00000355432:p.Ile92Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I92M	ENST00000366476.1	37	c.276	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	t	10.78	1.447252	0.25987	.	.	ENSG00000162727	ENST00000366476	T	0.00478	7.13	3.05	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32473	U	0.006047	T	0.00666	0.0022	M	0.88512	2.96	0.09310	N	1	D	0.56968	0.978	P	0.49332	0.607	T	0.04268	-1.0964	10	0.87932	D	0	.	6.2423	0.20797	0.2399:0.4926:0.0:0.2675	.	92	A3KFT3	OR2M5_HUMAN	M	92	ENSP00000355432:I92M	ENSP00000355432:I92M	I	+	3	3	OR2M5	246375348	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.412000	0.00480	-2.144000	0.00802	-1.967000	0.00467	ATT	OR2M5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	T	NM_001004690		248308725	1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.014	G	G	248308725	T	G	248308725	3	3	131	1	0	0	0	0	1	0	0	0	11037	1829	64	5	278	5	OR2M5	1	248308725	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	269026	248308725	941896	179	20319										
OR2M3	127062	genome.wustl.edu	37	chr1	248366705	248366705	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcactgcttggctctgagtgCtttcttttggctgttatggc	11	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248366705C>A	ENST00000456743.1	+	1	374	c.336C>A	c.(334-336)tgC>tgA	p.C112*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGAGTGCTTTCTTTTGG	0.453																																																	0													244	250	248					1																	248366705		2203	4300	6503	SO:0001587	stop_gained	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.336C>A	1.37:g.248366705C>A	ENSP00000389625:p.Cys112*		B9EH06|Q6IEY0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C112*	ENST00000456743.1	37	c.336	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803737	0.31869	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.55	-3.47	0.04753	.	0.232054	0.22181	U	0.063508	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.348	0.43918	0.0:0.1887:0.0:0.8113	.	.	.	.	X	112	.	ENSP00000389625:C112X	C	+	3	2	OR2M3	246433328	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.702000	0.00103	-0.750000	0.04740	-1.475000	0.01000	TGC	OR2M3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	C	NM_001004689		248366705	1	no_errors	ENST00000456743	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	248366705	C	A	248366705	4	1	131	1	0	0	0	0	0	1	0	0	11035	805	28	4	338	4	OR2M3	1	248366705	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	57980	248366705	883916	180	20320										
OR2M4	26245	genome.wustl.edu	37	chr1	248402760	248402760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctctggaaattcatcactTtttctgtgatgttgctgccc	7	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248402760T>G	ENST00000306687.1	+	1	530	c.530T>G	c.(529-531)tTt>tGt	p.F177C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTCATCACTTTTTCTGTGAT	0.428																																																	0													137	130	133					1																	248402760		2203	4300	6503	SO:0001583	missense	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.530T>G	1.37:g.248402760T>G	ENSP00000306688:p.Phe177Cys		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177C	ENST00000306687.1	37	c.530	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.172657	0.38413	.	.	ENSG00000171180	ENST00000306687	T	0.00344	8.02	3.25	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000591	T	0.00875	0.0029	M	0.91717	3.235	0.18873	N	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.26744	-1.0094	10	0.87932	D	0	.	6.8929	0.24241	0.2066:0.0:0.0:0.7934	.	177	Q96R27	OR2M4_HUMAN	C	177	ENSP00000306688:F177C	ENSP00000306688:F177C	F	+	2	0	OR2M4	246469383	0.104000	0.21937	0.971000	0.41717	0.974000	0.67602	0.139000	0.16036	1.459000	0.47892	0.443000	0.29094	TTT	OR2M4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.428	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	T	NM_017504		248402760	1	no_errors	ENST00000306687	ensembl	human	known	70_37	missense	SNP	0.399	G	G	248402760	T	G	248402760	3	3	131	1	0	0	0	0	1	0	0	0	11036	1841	64	5	532	5	OR2M4	1	248402760	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	36055	248402760	847861	181	20321										
OR2M4	26245	genome.wustl.edu	37	chr1	248402986	248402986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgtggtcggactctactaCggtgctgctatgttcatgta	11	9	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248402986C>T	ENST00000306687.1	+	1	756	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	252					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTCTACTACGGTGCTGCTA	0.542																																																	0													123	109	114					1																	248402986		2203	4300	6503	SO:0001819	synonymous_variant	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.756C>T	1.37:g.248402986C>T			Q15611|Q8NG82	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y252	ENST00000306687.1	37	c.756	CCDS31108.1	1																																																																																			OR2M4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	C	NM_017504		248402986	1	no_errors	ENST00000306687	ensembl	human	known	70_37	silent	SNP	0.375	T	T	248402986	C	T	248402986	2	4	131	1	0	0	0	0	0	0	0	1	11036	547	19	2		2	OR2M4	1	248402986	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	226	248402986	847635	182	20322										
OR2T10	127069	genome.wustl.edu	37	chr1	248756811	248756811	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgagatggtcttgtctttggCcagctggttcaccagcattt	11	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248756811C>G	ENST00000330500.2	-	1	289	c.259G>C	c.(259-261)Gcc>Ccc	p.A87P	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTCTTTGGCCAGCTGGTTC	0.502																																																	0													63	74	70					1																	248756811		2038	4235	6273	SO:0001583	missense	127069				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.259G>C	1.37:g.248756811C>G	ENSP00000329210:p.Ala87Pro		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A87P	ENST00000330500.2	37	c.259	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	5.048	0.194475	0.09599	.	.	ENSG00000184022	ENST00000330500	T	0.01359	4.98	2.34	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01061	0.0035	L	0.28054	0.825	0.09310	N	1	P	0.37955	0.612	B	0.36335	0.222	T	0.47509	-0.9112	9	0.36615	T	0.2	.	3.9251	0.09261	0.1683:0.3463:0.0:0.4853	.	87	Q8NGZ9	O2T10_HUMAN	P	87	ENSP00000329210:A87P	ENSP00000329210:A87P	A	-	1	0	OR2T10	246823434	0.000000	0.05858	0.003000	0.11579	0.615000	0.37417	-7.715000	0.00031	-0.187000	0.10516	0.441000	0.28932	GCC	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	C	NM_001004693		248756811	-1	no_errors	ENST00000330500	ensembl	human	known	70_37	missense	SNP	0.000	G	G	248756811	C	G	248756811	3	3	131	1	0	0	0	0	1	0	0	0	11041	739	26	4	682	4	OR2T10	1	248756811	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	353825	248756811	493810	183	20323										
PXDN	7837	genome.wustl.edu	37	chr2	1652209	1652209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagccccctgagaagcggatCgatgccgccctcattcacaa	9	16	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:1652209C>T	ENST00000252804.4	-	17	3393	c.3343G>A	c.(3343-3345)Gat>Aat	p.D1115N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1115					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1115N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGAAGCGGATCGATGCCGCCC	0.592																																																	1	Substitution - Missense(1)	lung(1)											33	40	37					2																	1652209		2038	4169	6207	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3343G>A	2.37:g.1652209C>T	ENSP00000252804:p.Asp1115Asn		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.D1115N	ENST00000252804.4	37	c.3343	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637319	0.87760	.	.	ENSG00000130508	ENST00000252804	T	0.76060	-0.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90179	0.4241	10	0.87932	D	0	-59.945	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1115	Q92626	PXDN_HUMAN	N	1115	ENSP00000252804:D1115N	ENSP00000252804:D1115N	D	-	1	0	PXDN	1631216	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.734000	0.84928	2.588000	0.87417	0.650000	0.86243	GAT	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1652209	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1652209	C	T	1652209	3	4	131	1	0	0	0	0	1	0	0	0	12877	884	31	1	1124	1	PXDN	2	1652209	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		1652209	241547164	184	20324										
PXDN	7837	genome.wustl.edu	37	chr2	1652918	1652918	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacacagggctggagcgcacGaagaacatgcagcgggcccc	14	14	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:1652918G>A	ENST00000252804.4	-	17	2684	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	878					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGAGCGCACGAAGAACATGC	0.632																																																	0													20	23	22					2																	1652918		2157	4232	6389	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2634C>T	2.37:g.1652918G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.F878	ENST00000252804.4	37	c.2634	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.632	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	G	XM_056455		1652918	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	silent	SNP	0.996	A	A	1652918	G	A	1652918	2	1	131	1	0	0	0	0	0	0	0	1	12877	1049	37	1		1	PXDN	2	1652918	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	709	1652918	241546455	185	20325										
TTC15	51112	genome.wustl.edu	37	chr2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttgggccttttccagaatgCtgagatggaatttgaaccct	11	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	444					vesicle-mediated transport (GO:0016192)			p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448																																																	2	Substitution - Missense(2)	lung(2)											180	177	178					2																	3428348		2203	4300	6503	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1331C>T	2.37:g.3428348C>T	ENSP00000324318:p.Ala444Val		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A444V	ENST00000324266.5	37	c.1331	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316204	0.81469	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	.	0.111099	0.64402	D	0.000011	T	0.68851	0.3046	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68483	0.958;0.917	T	0.67833	-0.5568	10	0.42905	T	0.14	.	18.6072	0.91271	0.0:1.0:0.0:0.0	.	427;444	E7ENL7;Q8WVT3	.;TPC12_HUMAN	V	444;427;444	ENSP00000371544:A444V;ENSP00000324318:A444V	ENSP00000303612:A427V	A	+	2	0	TTC15	3407355	1.000000	0.71417	0.942000	0.38095	0.926000	0.56050	7.395000	0.79876	2.637000	0.89404	0.563000	0.77884	GCT	TRAPPC12	-	NULL		0.448	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	C	NM_016030		3428348	1	no_errors	ENST00000324266	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3428348	C	T	3428348	3	4	131	1	0	0	0	0	1	0	0	0	16713	797	28	4	1345	4	TTC15	2	3428348	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1775430	3428348	239771025	186	20326										
RSAD2	91543	genome.wustl.edu	37	chr2	7036006	7036006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaattcagtggatttgatgAaaagatgtttctgaagcgag	11	3	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:7036006A>G	ENST00000382040.3	+	6	1155	c.1019A>G	c.(1018-1020)gAa>gGa	p.E340G	RSAD2_ENST00000541728.1_Missense_Mutation_p.E233G	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GGATTTGATGAAAAGATGTTT	0.443																																																	0													88	84	85					2																	7036006		2203	4300	6503	SO:0001583	missense	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.1019A>G	2.37:g.7036006A>G	ENSP00000371471:p.Glu340Gly			Missense_Mutation	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB	p.E340G	ENST00000382040.3	37	c.1019	CCDS1656.1	2	.	.	.	.	.	.	.	.	.	.	A	28.0	4.877792	0.91664	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	T	0.34859	1.34	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.70107	-0.4963	10	0.66056	D	0.02	-42.3149	16.0284	0.80558	1.0:0.0:0.0:0.0	.	340	Q8WXG1	RSAD2_HUMAN	G	340;233	ENSP00000371471:E340G	ENSP00000371471:E340G	E	+	2	0	RSAD2	6953457	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	8.799000	0.91895	2.253000	0.74438	0.533000	0.62120	GAA	RSAD2	-	NULL		0.443	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD2	HGNC	protein_coding	OTTHUMT00000206724.2	A	NM_080657		7036006	1	no_errors	ENST00000382040	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7036006	A	G	7036006	3	3	131	1	0	0	0	0	1	0	0	0	13725	246	9	5	1041	5	RSAD2	2	7036006	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3607658	7036006	236163367	187	20327										
GRHL1	29841	genome.wustl.edu	37	chr2	10105420	10105420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaccgcttcctgtagctgaCtataaagaaagcttcaacac	6	13	1	2	rs140008573		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:10105420C>A	ENST00000324907.9	+	8	1156	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	GRHL1_ENST00000324883.5_Missense_Mutation_p.D151E|GRHL1_ENST00000405379.2_Missense_Mutation_p.D340E	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	340					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTGTAGCTGACTATAAAGAAA	0.408																																																	0								C	GLU/ASP	0,4406		0,0,2203	119	120	120		1020	5.6	1	2	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRHL1	NM_198182.2	45	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	340/619	10105420	1,13005	2203	4300	6503	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1020C>A	2.37:g.10105420C>A	ENSP00000324693:p.Asp340Glu		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	pfam_CP2	p.D340E	ENST00000324907.9	37	c.1020	CCDS33144.2	2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773681	0.90108	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.26957	1.7;1.7;1.7	5.6	5.6	0.85130	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.33828	-0.9853	10	0.87932	D	0	-27.5858	13.8508	0.63496	0.0:0.9273:0.0:0.0727	.	151;340	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	E	340;151;340	ENSP00000384209:D340E;ENSP00000324494:D151E;ENSP00000324693:D340E	ENSP00000324494:D151E	D	+	3	2	GRHL1	10022871	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.291000	0.51764	2.627000	0.88993	0.650000	0.86243	GAC	GRHL1	-	pfam_CP2		0.408	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL1	HGNC	protein_coding	OTTHUMT00000323543.2	C	NM_014552		10105420	1	no_errors	ENST00000324907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10105420	C	A	10105420	3	1	131	1	0	0	0	0	1	0	0	0	6783	564	20	4	1050	4	GRHL1	2	10105420	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3069414	10105420	233093953	188	20328										
ATP6V1C2	245973	genome.wustl.edu	37	chr2	10914999	10914999	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttcaaaaccaaggccaaaGaaaacaagtaagggtcctcc	7	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:10914999G>T	ENST00000272238.4	+	9	833	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	ATP6V1C2_ENST00000381661.3_Nonsense_Mutation_p.E242*	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	242					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CAAGGCCAAAGAAAACAAGTA	0.478																																					NSCLC(188;1042 2136 10807 16813 47705)												0													94	102	99					2																	10914999		2203	4300	6503	SO:0001587	stop_gained	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.724G>T	2.37:g.10914999G>T	ENSP00000272238:p.Glu242*		Q96EL8	Nonsense_Mutation	SNP	pfam_ATPase_V1-cplx_csu	p.E242*	ENST00000272238.4	37	c.724	CCDS42653.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566990	0.86439	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	.	.	.	5.79	5.79	0.91817	.	0.052582	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.5936	20.0407	0.97588	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000272238:E242X	E	+	1	0	ATP6V1C2	10832450	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.876000	0.87215	2.746000	0.94184	0.561000	0.74099	GAA	ATP6V1C2	-	pfam_ATPase_V1-cplx_csu		0.478	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ATP6V1C2	HGNC	protein_coding	OTTHUMT00000323555.1	G	NM_144583		10914999	1	no_errors	ENST00000272238	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	10914999	G	T	10914999	4	4	131	1	0	0	0	0	0	1	0	0	1182	943	33	3	754	3	ATP6V1C2	2	10914999	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	809579	10914999	232284374	189	20329										
PQLC3	130814	genome.wustl.edu	37	chr2	11312118	11312118	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgtctgtggaagacgagagActcaggaactgtgagtgcgc	16	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:11312118A>C	ENST00000295083.3	+	5	597	c.422A>C	c.(421-423)gAc>gCc	p.D141A	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.D141A|PQLC3_ENST00000402361.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	141						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		AAGACGAGAGACTCAGGAACT	0.498																																																	0													110	104	106					2																	11312118		2203	4300	6503	SO:0001583	missense	130814			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 22"	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.422A>C	2.37:g.11312118A>C	ENSP00000295083:p.Asp141Ala		B2R8K1|B4DWA4	Missense_Mutation	SNP	pirsf_MannP-dilichol_defect-1	p.D141A	ENST00000295083.3	37	c.422	CCDS1679.1	2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496562	0.85069	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908	D;T;D	0.86297	-2.08;-0.44;-2.1	5.95	5.95	0.96441	.	0.048486	0.85682	D	0.000000	D	0.93080	0.7797	M	0.82517	2.595	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.65684	0.82;0.937	D	0.93031	0.6448	10	0.45353	T	0.12	-11.7023	14.6535	0.68814	1.0:0.0:0.0:0.0	.	141;141	B4DWA4;Q8N755	.;PQLC3_HUMAN	A	164;141;141	ENSP00000410430:D164A;ENSP00000295083:D141A;ENSP00000406148:D141A	ENSP00000295083:D141A	D	+	2	0	PQLC3	11229569	1.000000	0.71417	0.975000	0.42487	0.711000	0.40976	7.330000	0.79181	2.279000	0.76181	0.533000	0.62120	GAC	PQLC3	-	pirsf_MannP-dilichol_defect-1		0.498	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PQLC3	HGNC	protein_coding	OTTHUMT00000239266.4	A	NM_152391		11312118	1	no_errors	ENST00000295083	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11312118	A	C	11312118	3	2	131	1	0	0	0	0	1	0	0	0	12447	275	10	5	440	5	PQLC3	2	11312118	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	397119	11312118	231887255	190	20330										
C2orf43	60526	genome.wustl.edu	37	chr2	20901338	20901338	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaagtgattaccttacataAatgctcctttatggtttcgt	6	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:20901338A>C	ENST00000237822.3	-	6	857	c.778T>G	c.(778-780)Tta>Gta	p.L260V	C2orf43_ENST00000381090.3_Missense_Mutation_p.L260V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L130V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L130V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L212V|C2orf43_ENST00000440866.2_3'UTR	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	260										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTACATAAATGCTCCTTT	0.398																																																	0													307	301	303					2																	20901338		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.778T>G	2.37:g.20901338A>C	ENSP00000237822:p.Leu260Val		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.L260V	ENST00000237822.3	37	c.778	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565452	0.45694	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.41758	0.99;1.58;0.99	5.2	0.985	0.19779	.	0.305408	0.26631	N	0.023315	T	0.49440	0.1557	M	0.78049	2.395	0.21325	N	0.999724	D;P;P;P	0.58970	0.984;0.773;0.831;0.909	P;P;P;P	0.57244	0.597;0.453;0.694;0.816	T	0.33954	-0.9848	10	0.27082	T	0.32	-13.0206	3.8115	0.08799	0.5788:0.0:0.0917:0.3296	.	218;212;260;260	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	130;260;260;212;130;130	ENSP00000384267:L130V;ENSP00000388635:L212V;ENSP00000440570:L130V	ENSP00000237822:L260V	L	-	1	2	C2orf43	20764819	0.988000	0.35896	0.031000	0.17742	0.546000	0.35178	2.076000	0.41548	0.430000	0.26230	0.533000	0.62120	TTA	C2orf43	-	pfam_DUF2305		0.398	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	A	NM_021925		20901338	-1	no_errors	ENST00000237822	ensembl	human	known	70_37	missense	SNP	0.063	C	C	20901338	A	C	20901338	3	2	131	1	0	0	0	0	1	0	0	0	2172	11	1	5	207	5	C2orf43	2	20901338	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	9589220	20901338	222298035	191	20331										
APOB	338	genome.wustl.edu	37	chr2	21232739	21232739	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttggctctgaaggcattgAttttctcagctacttcaaaa	7	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:21232739A>C	ENST00000233242.1	-	26	7128	c.7001T>G	c.(7000-7002)aTc>aGc	p.I2334S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2334					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGCATTGATTTTCTCAGC	0.353																																																	0													101	101	101					2																	21232739		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7001T>G	2.37:g.21232739A>C	ENSP00000233242:p.Ile2334Ser		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I2334S	ENST00000233242.1	37	c.7001	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467252	0.26335	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01221	5.15	5.76	5.76	0.90799	.	0.193810	0.35772	N	0.002983	T	0.05731	0.0150	M	0.75447	2.3	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	T	0.05699	-1.0869	10	0.87932	D	0	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	2334	P04114	APOB_HUMAN	S	2334	ENSP00000233242:I2334S	ENSP00000233242:I2334S	I	-	2	0	APOB	21086244	1.000000	0.71417	0.577000	0.28562	0.050000	0.14768	8.923000	0.92808	2.192000	0.70111	0.459000	0.35465	ATC	APOB	-	superfamily_ARM-type_fold		0.353	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	A			21232739	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.875	C	C	21232739	A	C	21232739	3	2	131	1	0	0	0	0	1	0	0	0	785	333	12	5	6706	5	APOB	2	21232739	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	331401	21232739	221966634	192	20332										
APOB	338	genome.wustl.edu	37	chr2	21233079	21233079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggattgtttttactaaatTtacacggatatgatagtgct	8	4	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:21233079T>G	ENST00000233242.1	-	26	6788	c.6661A>C	c.(6661-6663)Aat>Cat	p.N2221H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2221				N -> I (in Ref. 5; CAA28420). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTACTAAATTTACACGGATA	0.264																																																	0													33	35	34					2																	21233079		2201	4291	6492	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6661A>C	2.37:g.21233079T>G	ENSP00000233242:p.Asn2221His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N2221H	ENST00000233242.1	37	c.6661	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287345	0.23478	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.76	0.291	0.15732	.	0.739617	0.12766	N	0.440914	T	0.01254	0.0041	M	0.72479	2.2	0.09310	N	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.35798	-0.9774	10	0.31617	T	0.26	.	10.6931	0.45884	0.098:0.0:0.4323:0.4697	.	2221	P04114	APOB_HUMAN	H	2221	ENSP00000233242:N2221H	ENSP00000233242:N2221H	N	-	1	0	APOB	21086584	0.015000	0.18098	0.086000	0.20670	0.785000	0.44390	2.030000	0.41108	0.426000	0.26116	0.459000	0.35465	AAT	APOB	-	superfamily_ARM-type_fold		0.264	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	T			21233079	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	G	G	21233079	T	G	21233079	3	3	131	1	0	0	0	0	1	0	0	0	785	1841	64	5	7046	5	APOB	2	21233079	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	340	21233079	221966294	193	20333										
ITSN2	50618	genome.wustl.edu	37	chr2	24509100	24509100	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctttagttgattgttaaaaGaatccatttctgacagctta	6	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:24509100G>T	ENST00000355123.4	-	16	2287	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	ITSN2_ENST00000361999.3_Missense_Mutation_p.S615Y|ITSN2_ENST00000406921.3_Missense_Mutation_p.S615Y	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	615					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTTAAAAGAATCCATTTC	0.264																																																	0													76	77	77					2																	24509100		2203	4296	6499	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1844C>A	2.37:g.24509100G>T	ENSP00000347244:p.Ser615Tyr		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.S615Y	ENST00000355123.4	37	c.1844	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560454	0.45590	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.60171	1.42;0.21;1.42;0.65	5.48	5.48	0.80851	.	0.662257	0.11618	U	0.546029	T	0.64571	0.2610	L	0.43152	1.355	0.32128	N	0.587188	D;D;D;P	0.59767	0.986;0.969;0.974;0.956	P;P;P;P	0.54100	0.742;0.742;0.66;0.459	T	0.67703	-0.5602	10	0.59425	D	0.04	.	15.436	0.75146	0.0:0.0:0.8527:0.1473	.	615;615;615;615	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	Y	615	ENSP00000354561:S615Y;ENSP00000347244:S615Y;ENSP00000370250:S615Y;ENSP00000384499:S615Y	ENSP00000347244:S615Y	S	-	2	0	ITSN2	24362604	0.787000	0.28750	1.000000	0.80357	0.959000	0.62525	0.921000	0.28718	2.750000	0.94351	0.467000	0.42956	TCT	ITSN2	-	NULL		0.264	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	G	NM_006277		24509100	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24509100	G	T	24509100	3	4	131	1	0	0	0	0	1	0	0	0	7947	942	33	3	3400	3	ITSN2	2	24509100	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3276021	24509100	218690273	194	20334										
CENPO	79172	genome.wustl.edu	37	chr2	25022592	25022592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacccaagtgagcagatcccGtaaacagtctgaagagctgc	11	11	1	4	rs574000727		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:25022592G>A	ENST00000380834.2	+	3	520	c.95G>A	c.(94-96)cGt>cAt	p.R32H	CENPO_ENST00000473706.1_Missense_Mutation_p.R26H|CENPO_ENST00000260662.1_Missense_Mutation_p.R32H			Q9BU64	CENPO_HUMAN	centromere protein O	32					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R32H(1)		breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCAGATCCCGTAAACAGTCT	0.488																																																	1	Substitution - Missense(1)	breast(1)											88	97	94					2																	25022592		2203	4300	6503	SO:0001583	missense	79172			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.95G>A	2.37:g.25022592G>A	ENSP00000370214:p.Arg32His		B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	pfam_Centromere_CenpO	p.R32H	ENST00000380834.2	37	c.95	CCDS1714.1	2	.	.	.	.	.	.	.	.	.	.	g	8.934	0.964186	0.18583	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.46063	0.88;0.88;0.88	4.54	-9.07	0.00724	.	1.589270	0.03451	N	0.210672	T	0.26955	0.0660	N	0.20685	0.6	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.27536	-1.0071	10	0.33940	T	0.23	-36.4417	13.1388	0.59423	0.7213:0.0873:0.1914:0.0	.	26;32	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	H	32;26;32	ENSP00000370214:R32H;ENSP00000417787:R26H;ENSP00000260662:R32H	ENSP00000260662:R32H	R	+	2	0	CENPO	24876096	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.651000	0.00857	-3.258000	0.00202	-2.369000	0.00236	CGT	CENPO	-	NULL		0.488	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	G	NM_024322		25022592	1	no_errors	ENST00000260662	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25022592	G	A	25022592	3	1	131	1	0	0	0	0	1	0	0	0	3244	1145	40	2	101	2	CENPO	2	25022592	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	513492	25022592	218176781	195	20335										
POMC	5443	genome.wustl.edu	37	chr2	25387631	25387631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccccgagcggctgcagcacGatctcggcatcttccaggca	11	17	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:25387631G>A	ENST00000405623.1	-	2	466	c.11C>T	c.(10-12)tCg>tTg	p.S4L	POMC_ENST00000380794.1_Missense_Mutation_p.S4L|POMC_ENST00000264708.3_Missense_Mutation_p.S4L|POMC_ENST00000395826.2_Missense_Mutation_p.S4L			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCTGCAGCACGATCTCGGCAT	0.612																																					Colon(110;1515 1566 8452 10082 43216)												0													36	39	38					2																	25387631		2203	4299	6502	SO:0001583	missense	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.11C>T	2.37:g.25387631G>A	ENSP00000384092:p.Ser4Leu		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.S4L	ENST00000405623.1	37	c.11	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	G	6.290	0.421617	0.11928	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.13	5.76	-2.16	0.07080	.	1.030420	0.07705	N	0.941071	T	0.56659	0.2000	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	10	0.07644	T	0.81	-1.5508	6.9263	0.24416	0.6002:0.0:0.2698:0.13	.	4	P01189	COLI_HUMAN	L	4	ENSP00000370171:S4L;ENSP00000384092:S4L;ENSP00000264708:S4L;ENSP00000379170:S4L;ENSP00000387993:S4L	ENSP00000264708:S4L	S	-	2	0	POMC	25241135	0.024000	0.19004	0.002000	0.10522	0.088000	0.18126	0.272000	0.18644	-0.822000	0.04306	-0.355000	0.07637	TCG	POMC	-	NULL		0.612	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	G	NM_001035256		25387631	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25387631	G	A	25387631	3	1	131	1	0	0	0	0	1	0	0	0	12266	1059	37	1	800	1	POMC	2	25387631	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	365039	25387631	217811742	196	20336										
ASXL2	55252	genome.wustl.edu	37	chr2	25965734	25965734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtatatcccattttcaaggCttcagtggggctgcttagac	10	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:25965734C>T	ENST00000435504.4	-	13	3765	c.3472G>A	c.(3472-3474)Gcc>Acc	p.A1158T	ASXL2_ENST00000336112.4_Missense_Mutation_p.A1130T|ASXL2_ENST00000272341.4_Missense_Mutation_p.A641T|ASXL2_ENST00000404843.1_Missense_Mutation_p.A641T			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1158					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTCAAGGCTTCAGTGGGG	0.458																																																	0													100	99	99					2																	25965734		1914	4133	6047	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3472G>A	2.37:g.25965734C>T	ENSP00000391447:p.Ala1158Thr		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.A1158T	ENST00000435504.4	37	c.3472		2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861966	0.32884	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18810	2.2;2.2;2.19;2.19	6.02	5.12	0.69794	.	0.555090	0.20989	N	0.082061	T	0.18467	0.0443	L	0.35723	1.085	0.21822	N	0.999528	B;B	0.33637	0.42;0.024	B;B	0.32289	0.143;0.01	T	0.09818	-1.0657	10	0.24483	T	0.36	-1.9545	15.8158	0.78597	0.0:0.8637:0.1363:0.0	.	641;1158	Q76L83-2;Q76L83	.;ASXL2_HUMAN	T	1158;1130;641;641	ENSP00000391447:A1158T;ENSP00000337250:A1130T;ENSP00000383920:A641T;ENSP00000272341:A641T	ENSP00000272341:A641T	A	-	1	0	ASXL2	25819238	0.010000	0.17322	0.998000	0.56505	0.994000	0.84299	1.094000	0.30951	1.500000	0.48636	0.655000	0.94253	GCC	ASXL2	-	NULL		0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	C	NM_018263		25965734	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25965734	C	T	25965734	3	4	131	1	0	0	0	0	1	0	0	0	1068	797	28	4	839	4	ASXL2	2	25965734	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	578103	25965734	217233639	197	20337										
C2orf39	92749	genome.wustl.edu	37	chr2	26677530	26677530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcagggactcgcgggccccGctgagggtacagaagaatgt	15	10	1	3	rs561986345		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:26677530G>A	ENST00000288710.2	+	15	2009	c.1935G>A	c.(1933-1935)ccG>ccA	p.P645P		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	645					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CGCGGGCCCCGCTGAGGGTAC	0.587													G|||	1	0.000199681	0	0	5008	,	,		20409	0.001		0	False		,,,				2504	0																0													91	84	87					2																	26677530		2203	4300	6503	SO:0001819	synonymous_variant	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1935G>A	2.37:g.26677530G>A			A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	NULL	p.P645	ENST00000288710.2	37	c.1935	CCDS1723.1	2																																																																																			CCDC164	-	NULL		0.587	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	G	NM_145038		26677530	1	no_errors	ENST00000288710	ensembl	human	known	70_37	silent	SNP	0.000	A	A	26677530	G	A	26677530	2	1	131	1	0	0	0	0	0	0	0	1	2169	1074	38	2		2	C2orf39	2	26677530	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	711796	26677530	216521843	198	20338										
CIB4	130106	genome.wustl.edu	37	chr2	26863416	26863416	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcaccacagaatttcatttCtggtcaggaaggtcagggcc	10	11	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:26863416C>A	ENST00000288861.4	-	2	127	c.74G>T	c.(73-75)aGa>aTa	p.R25I		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	25							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTCATTTCTGGTCAGGAA	0.567																																																	0													151	152	152					2																	26863416		2203	4300	6503	SO:0001583	missense	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.74G>T	2.37:g.26863416C>A	ENSP00000288861:p.Arg25Ile		B2RU18	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R25I	ENST00000288861.4	37	c.74	CCDS33160.1	2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979514	0.53827	.	.	ENSG00000157884	ENST00000288861	T	0.67698	-0.28	5.59	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.64402	D	0.000005	T	0.68348	0.2991	M	0.79475	2.455	0.80722	D	1	B	0.29936	0.262	B	0.35039	0.194	T	0.72054	-0.4406	10	0.87932	D	0	.	10.9065	0.47084	0.0:0.9107:0.0:0.0893	.	25	A0PJX0	CIB4_HUMAN	I	25	ENSP00000288861:R25I	ENSP00000288861:R25I	R	-	2	0	CIB4	26716920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.137000	0.42130	2.626000	0.88956	0.650000	0.86243	AGA	CIB4	-	NULL		0.567	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	C			26863416	-1	no_errors	ENST00000288861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26863416	C	A	26863416	3	1	131	1	0	0	0	0	1	0	0	0	3428	913	32	3	507	3	CIB4	2	26863416	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	185886	26863416	216335957	199	20339										
PREB	10113	genome.wustl.edu	37	chr2	27355999	27355999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccacaccttccagacacggaCgtagccatctgttcctccag	7	17	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:27355999C>T	ENST00000260643.2	-	3	785	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Missense_Mutation_p.V178I	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACACGGACGTAGCCATCT	0.512																																																	0													172	182	178					2																	27355999		2203	4300	6503	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.532G>A	2.37:g.27355999C>T	ENSP00000260643:p.Val178Ile		Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V178I	ENST00000260643.2	37	c.532	CCDS1738.1	2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524710	0.27299	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.57107	0.42;0.42	5.63	1.86	0.25419	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.313409	0.33691	N	0.004646	T	0.32010	0.0815	N	0.21240	0.645	0.35632	D	0.810283	B;B	0.18310	0.027;0.019	B;B	0.17979	0.016;0.02	T	0.12785	-1.0534	10	0.33940	T	0.23	-3.5064	4.8743	0.13648	0.0:0.5272:0.146:0.3268	.	178;178	B5MC98;Q9HCU5	.;PREB_HUMAN	I	178	ENSP00000260643:V178I;ENSP00000384032:V178I	ENSP00000260643:V178I	V	-	1	0	PREB	27209503	0.021000	0.18746	0.040000	0.18447	0.943000	0.58893	0.022000	0.13511	0.066000	0.16515	0.561000	0.74099	GTC	PREB	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.512	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	C	NM_013388		27355999	-1	no_errors	ENST00000260643	ensembl	human	known	70_37	missense	SNP	0.260	T	T	27355999	C	T	27355999	3	4	131	1	0	0	0	0	1	0	0	0	12497	536	19	2	749	2	PREB	2	27355999	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	492583	27355999	215843374	200	20340										
SLC30A3	7781	genome.wustl.edu	37	chr2	27480103	27480103	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgtgcacaaatgccgcccgGacgctggtgttccccagggg	14	14	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:27480103G>A	ENST00000233535.4	-	5	1048	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SLC30A3_ENST00000447008.2_Silent_p.V227V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	232					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCGCCCGGACGCTGGTGT	0.642																																																	0													49	48	48					2																	27480103		2203	4300	6503	SO:0001819	synonymous_variant	7781			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.696C>T	2.37:g.27480103G>A			Q8TC03	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V232	ENST00000233535.4	37	c.696	CCDS1743.1	2																																																																																			SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.642	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	G			27480103	-1	no_errors	ENST00000233535	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27480103	G	A	27480103	2	1	131	1	0	0	0	0	0	0	0	1	14586	1161	41	1		1	SLC30A3	2	27480103	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	124104	27480103	215719270	201	20341										
SLC30A6	55676	genome.wustl.edu	37	chr2	32399192	32399192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtactggcttcctgcttatgTggtgcagttctactaatagt	10	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:32399192T>C	ENST00000282587.5	+	3	188	c.151T>C	c.(151-153)Tgg>Cgg	p.W51R	SLC30A6_ENST00000435660.1_Missense_Mutation_p.W51R|SLC30A6_ENST00000379343.2_Missense_Mutation_p.W51R|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Missense_Mutation_p.W22R|SLC30A6_ENST00000406369.1_Intron	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	51					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCTGCTTATGTGGTGCAGTTC	0.313																																																	0													205	192	196					2																	32399192		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.151T>C	2.37:g.32399192T>C	ENSP00000282587:p.Trp51Arg		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.W51R	ENST00000282587.5	37	c.151	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516717	0.64634	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.25	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.991;0.997;0.997;0.984	D;D;D;D	0.71656	0.94;0.954;0.974;0.959	T	0.67612	-0.5626	10	0.44086	T	0.13	-9.9034	11.453	0.50164	0.0:0.0:0.1512:0.8488	.	22;51;51;51	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	R	51;22;51;51;22	ENSP00000393946:W22R;ENSP00000282587:W51R;ENSP00000399005:W51R;ENSP00000440678:W22R	ENSP00000282587:W51R	W	+	1	0	SLC30A6	32252696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.341000	0.72977	0.805000	0.34159	0.460000	0.39030	TGG	SLC30A6	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.313	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	HGNC	protein_coding	OTTHUMT00000250254.2	T			32399192	1	no_errors	ENST00000282587	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32399192	T	C	32399192	3	2	131	1	0	0	0	0	1	0	0	0	14589	1696	59	5	161	5	SLC30A6	2	32399192	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4919089	32399192	210800181	202	20342										
NLRC4	58484	genome.wustl.edu	37	chr2	32463229	32463229	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcactgcatttgcagacaaGcagcaggagactaattgaat	9	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:32463229G>T	ENST00000404025.2	-	7	2981	c.2493C>A	c.(2491-2493)tgC>tgA	p.C831*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.C831*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.C166*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.C831*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	831					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGCAGACAAGCAGCAGGAGA	0.398																																																	0													166	158	161					2																	32463229		2203	4300	6503	SO:0001587	stop_gained	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2493C>A	2.37:g.32463229G>T	ENSP00000385090:p.Cys831*		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.C831*	ENST00000404025.2	37	c.2493	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.481195	0.98829	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.52	3.63	0.41609	.	0.000000	0.44097	D	0.000488	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-14.3828	7.8013	0.29176	0.1169:0.0:0.8831:0.0	.	.	.	.	X	831;831;166;831	.	ENSP00000339666:C166X	C	-	3	2	NLRC4	32316733	0.997000	0.39634	0.990000	0.47175	0.988000	0.76386	0.521000	0.22893	1.232000	0.43678	0.655000	0.94253	TGC	NLRC4	-	NULL		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	G	NM_021209		32463229	-1	no_errors	ENST00000360906	ensembl	human	known	70_37	nonsense	SNP	0.989	T	T	32463229	G	T	32463229	4	4	131	1	0	0	0	0	0	1	0	0	10493	963	34	4	597	4	NLRC4	2	32463229	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	64037	32463229	210736144	203	20343										
BIRC6	57448	genome.wustl.edu	37	chr2	32694554	32694554	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcatcagtggaaccccaaaGatacggttacatactggtct	9	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:32694554G>T	ENST00000421745.2	+	30	6353	c.6219G>T	c.(6217-6219)aaG>aaT	p.K2073N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2073					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAACCCCAAAGATACGGTTAC	0.443																																					Pancreas(94;175 1509 16028 18060 45422)												0													260	238	245					2																	32694554		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6219G>T	2.37:g.32694554G>T	ENSP00000393596:p.Lys2073Asn		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.K2073N	ENST00000421745.2	37	c.6219	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400425	0.62177	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.26	5.26	0.73747	.	0.121588	0.53938	D	0.000045	T	0.74726	0.3754	L	0.47716	1.5	0.49915	D	0.999835	P	0.51791	0.948	P	0.49528	0.614	T	0.76793	-0.2828	10	0.56958	D	0.05	.	14.5744	0.68235	0.0727:0.0:0.9273:0.0	.	2073	Q9NR09	BIRC6_HUMAN	N	2073	ENSP00000393596:K2073N	ENSP00000393596:K2073N	K	+	3	2	BIRC6	32548058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.753000	0.47524	2.638000	0.89438	0.585000	0.79938	AAG	BIRC6	-	NULL		0.443	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32694554	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32694554	G	T	32694554	3	4	131	1	0	0	0	0	1	0	0	0	1439	933	33	3	6337	3	BIRC6	2	32694554	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	231325	32694554	210504819	204	20344										
LTBP1	4052	genome.wustl.edu	37	chr2	33335744	33335744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttccagcccagaaggggaTttcaggagagcagtccactg	12	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:33335744T>G	ENST00000404816.2	+	4	1312	c.959T>G	c.(958-960)aTt>aGt	p.I320S	LTBP1_ENST00000354476.3_Missense_Mutation_p.I320S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	320					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGAAGGGGATTTCAGGAGAG	0.488																																																	0													129	127	128					2																	33335744		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.959T>G	2.37:g.33335744T>G	ENSP00000386043:p.Ile320Ser		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.I320S	ENST00000404816.2	37	c.959	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	T	5.242	0.230112	0.09969	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80304	-1.36;-1.35	5.51	5.51	0.81932	.	.	.	.	.	T	0.73024	0.3534	N	0.22421	0.69	0.80722	D	1	B	0.30361	0.277	B	0.34779	0.189	T	0.72959	-0.4133	9	0.49607	T	0.09	.	15.6428	0.77020	0.0:0.0:0.0:1.0	.	320	Q14766-4	.	S	320	ENSP00000386043:I320S;ENSP00000346467:I320S	ENSP00000346467:I320S	I	+	2	0	LTBP1	33189248	0.972000	0.33761	0.270000	0.24601	0.087000	0.18053	2.032000	0.41127	2.087000	0.62958	0.528000	0.53228	ATT	LTBP1	-	NULL		0.488	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	T	NM_206943		33335744	1	no_errors	ENST00000354476	ensembl	human	known	70_37	missense	SNP	0.312	G	G	33335744	T	G	33335744	3	3	131	1	0	0	0	0	1	0	0	0	9096	1493	52	5	973	5	LTBP1	2	33335744	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	641190	33335744	209863629	205	20345										
VIT	5212	genome.wustl.edu	37	chr2	36982179	36982179	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatccctaccacgatggagaGaatcctttatcgtcttaggt	8	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:36982179G>T	ENST00000389975.3	+	5	693	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	VIT_ENST00000457137.2_Nonsense_Mutation_p.E131*|VIT_ENST00000379242.3_Nonsense_Mutation_p.E131*|VIT_ENST00000404084.1_Nonsense_Mutation_p.E109*|VIT_ENST00000401530.1_Nonsense_Mutation_p.E131*|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Nonsense_Mutation_p.E131*	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	131	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.E131K(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACGATGGAGAGAATCCTTTAT	0.438																																																	2	Substitution - Missense(2)	endometrium(2)											134	115	122					2																	36982179		2203	4300	6503	SO:0001587	stop_gained	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.391G>T	2.37:g.36982179G>T	ENSP00000374625:p.Glu131*		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.E131*	ENST00000389975.3	37	c.391	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.406910	0.97542	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	.	.	.	5.63	5.63	0.86233	.	0.158940	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.9853	19.3046	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	X	131;131;131;131;109;131;131	.	ENSP00000368543:E131X	E	+	1	0	VIT	36835683	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.834000	0.86773	2.652000	0.90054	0.655000	0.94253	GAA	VIT	-	pfam_LCCL,superfamily_LCCL,pfscan_LCCL		0.438	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		G			36982179	1	no_errors	ENST00000379242	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	36982179	G	T	36982179	4	4	131	1	0	0	0	0	0	1	0	0	17202	943	33	3	405	3	VIT	2	36982179	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3646435	36982179	206217194	206	20346										
HNRPLL	92906	genome.wustl.edu	37	chr2	38800559	38800559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttggtaaaggcaataatggAccatgggatcctataaaaat	9	6	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:38800559A>G	ENST00000449105.3	-	8	1224	c.885T>C	c.(883-885)ggT>ggC	p.G295G	HNRNPLL_ENST00000409328.1_Silent_p.G261G|HNRNPLL_ENST00000409636.1_Silent_p.G290G|HNRNPLL_ENST00000608859.1_Silent_p.G295G|HNRNPLL_ENST00000378915.3_Silent_p.G261G			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	295					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										GCAATAATGGACCATGGGATC	0.353																																																	0													84	82	83					2																	38800559		2203	4300	6503	SO:0001819	synonymous_variant	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.885T>C	2.37:g.38800559A>G			Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.G295	ENST00000449105.3	37	c.885		2																																																																																			HNRPLL	-	tigrfam_HnRNP-L_PTB		0.353	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	HNRPLL	HGNC	protein_coding	OTTHUMT00000219887.2	A	NM_138394		38800559	-1	no_errors	ENST00000449105	ensembl	human	known	70_37	silent	SNP	1.000	G	G	38800559	A	G	38800559	2	3	131	1	0	0	0	0	0	0	0	1	7297	262	10	5		5	HNRPLL	2	38800559	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1818380	38800559	204398814	207	20347										
SOS1	6654	genome.wustl.edu	37	chr2	39213450	39213450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggactgtccaaatgcttagAcataatctaacaaatgaaaa	7	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:39213450A>G	ENST00000426016.1	-	24	3603	c.3517T>C	c.(3517-3519)Tct>Cct	p.S1173P	SOS1_ENST00000395038.2_Missense_Mutation_p.S1158P|SOS1_ENST00000402219.2_Missense_Mutation_p.S1173P			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1173					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATGCTTAGACATAATCTAA	0.348									Noonan syndrome																																								0													43	47	46					2																	39213450		2201	4298	6499	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3517T>C	2.37:g.39213450A>G	ENSP00000387784:p.Ser1173Pro		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1173P	ENST00000426016.1	37	c.3517	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854525	0.32791	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.78126	-1.06;-1.06;-1.15	5.51	4.35	0.52113	.	0.341077	0.32488	N	0.006038	T	0.68274	0.2983	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60737	-0.7204	10	0.22109	T	0.4	.	11.4397	0.50090	0.9292:0.0:0.0708:0.0	.	1173	Q07889	SOS1_HUMAN	P	1173;1173;890;1158	ENSP00000387784:S1173P;ENSP00000384675:S1173P;ENSP00000378479:S1158P	ENSP00000378479:S1158P	S	-	1	0	SOS1	39066954	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.271000	0.58902	1.032000	0.39892	0.528000	0.53228	TCT	SOS1	-	NULL		0.348	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	A	NM_005633		39213450	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39213450	A	G	39213450	3	3	131	1	0	0	0	0	1	0	0	0	14966	275	10	5	488	5	SOS1	2	39213450	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	412891	39213450	203985923	208	20348										
SOS1	6654	genome.wustl.edu	37	chr2	39249758	39249758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctataagtttaataacagttCctgctttgataattggaatt	6	5	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:39249758C>A	ENST00000426016.1	-	11	1897	c.1811G>T	c.(1810-1812)gGa>gTa	p.G604V	SOS1_ENST00000395038.2_Missense_Mutation_p.G604V|SOS1_ENST00000402219.2_Missense_Mutation_p.G604V|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	604	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AATAACAGTTCCTGCTTTGAT	0.378									Noonan syndrome																																								0													83	83	83					2																	39249758		2203	4299	6502	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1811G>T	2.37:g.39249758C>A	ENSP00000387784:p.Gly604Val		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G604V	ENST00000426016.1	37	c.1811	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161723	0.78226	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.56611	0.45;0.45;0.45	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79220	-0.1893	10	0.87932	D	0	.	20.0039	0.97428	0.0:1.0:0.0:0.0	.	336;604	F5GX06;Q07889	.;SOS1_HUMAN	V	604;604;336;604;604	ENSP00000387784:G604V;ENSP00000384675:G604V;ENSP00000378479:G604V	ENSP00000263879:G604V	G	-	2	0	SOS1	39103262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.722000	0.93159	0.557000	0.71058	GGA	SOS1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.378	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39249758	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39249758	C	A	39249758	3	1	131	1	0	0	0	0	1	0	0	0	14966	855	30	3	2246	3	SOS1	2	39249758	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	36308	39249758	203949615	209	20349										
THADA	63892	genome.wustl.edu	37	chr2	43800129	43800129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatgggaaagattgctcttGtcctgaaagcacaataacaa	10	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:43800129G>C	ENST00000405006.4	-	12	2083	c.1732C>G	c.(1732-1734)Caa>Gaa	p.Q578E	THADA_ENST00000405975.2_Missense_Mutation_p.Q578E|THADA_ENST00000415080.2_Missense_Mutation_p.Q288E|THADA_ENST00000330266.7_Missense_Mutation_p.Q288E|THADA_ENST00000403856.1_Missense_Mutation_p.Q578E|THADA_ENST00000404790.1_Missense_Mutation_p.Q578E|THADA_ENST00000402360.2_Missense_Mutation_p.Q578E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	578										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GATTGCTCTTGTCCTGAAAGC	0.388																																																	0													63	61	61					2																	43800129		1880	4101	5981	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1732C>G	2.37:g.43800129G>C	ENSP00000385995:p.Gln578Glu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.Q578E	ENST00000405006.4	37	c.1732	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.843126	0.00568	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.28255	1.63;3.05;2.86;3.05;1.62;1.64;1.63	3.46	0.672	0.17935	Armadillo-type fold (1);	0.799119	0.10339	N	0.686596	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.24920	0.114;0.015;0.009;0.001;0.001	B;B;B;B;B	0.24394	0.053;0.017;0.01;0.001;0.0	T	0.33727	-0.9857	10	0.18710	T	0.47	.	5.4711	0.16670	0.3687:0.0:0.6313:0.0	.	578;578;578;288;578	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	E	288;578;578;288;578;578;578;578	ENSP00000331105:Q288E;ENSP00000386088:Q578E;ENSP00000416048:Q288E;ENSP00000385995:Q578E;ENSP00000385441:Q578E;ENSP00000384266:Q578E;ENSP00000385469:Q578E	ENSP00000331105:Q288E	Q	-	1	0	THADA	43653633	0.001000	0.12720	0.001000	0.08648	0.096000	0.18686	0.530000	0.23036	0.136000	0.18733	0.591000	0.81541	CAA	THADA	-	superfamily_ARM-type_fold		0.388	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	G	NM_022065		43800129	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	0.001	C	C	43800129	G	C	43800129	3	2	131	1	0	0	0	0	1	0	0	0	15870	1386	48	4	4237	4	THADA	2	43800129	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4550371	43800129	199399244	210	20350										
LRPPRC	10128	genome.wustl.edu	37	chr2	44176759	44176759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccgtcggtcctcgaggctCctggcaataacgtccatcct	9	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:44176759C>T	ENST00000260665.7	-	16	1774	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	573					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCGAGGCTCCTGGCAATAA	0.413																																																	0													79	69	73					2																	44176759		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1717G>A	2.37:g.44176759C>T	ENSP00000260665:p.Glu573Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E573K	ENST00000260665.7	37	c.1717	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	7.087	0.571322	0.13623	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.55760	0.5	5.88	3.11	0.35812	.	0.539830	0.20252	N	0.096048	T	0.29028	0.0721	N	0.16478	0.41	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.07195	-1.0785	10	0.06891	T	0.86	-28.8779	7.8107	0.29230	0.0:0.6388:0.0:0.3612	.	473;573	F5H4J6;P42704	.;LPPRC_HUMAN	K	473;573	ENSP00000260665:E573K	ENSP00000260665:E573K	E	-	1	0	LRPPRC	44030263	0.980000	0.34600	0.769000	0.31535	0.848000	0.48234	1.037000	0.30241	0.806000	0.34183	-0.137000	0.14449	GAG	LRPPRC	-	NULL		0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44176759	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.925	T	T	44176759	C	T	44176759	3	4	131	1	0	0	0	0	1	0	0	0	8988	864	30	1	2559	1	LRPPRC	2	44176759	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	376630	44176759	199022614	211	20351										
MSH6	2956	genome.wustl.edu	37	chr2	48032840	48032840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attctctggtgcttgtggatGaattaggtaagacattaaac	10	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:48032840G>T	ENST00000234420.5	+	7	3792	c.3640G>T	c.(3640-3642)Gaa>Taa	p.E1214*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1084*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E912*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1214					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTGTGGATGAATTAGGTAA	0.284			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											87	89	88					2																	48032840		2203	4299	6502	SO:0001587	stop_gained	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3640G>T	2.37:g.48032840G>T	ENSP00000234420:p.Glu1214*		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.E1214*	ENST00000234420.5	37	c.3640	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.564740	0.99750	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	4.81	4.81	0.61882	.	0.096544	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1336	18.0797	0.89439	0.0:0.0:1.0:0.0	.	.	.	.	X	1214;180;1084;912	.	ENSP00000234420:E1214X	E	+	1	0	MSH6	47886344	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.506000	0.84524	0.462000	0.41574	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6		0.284	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	G	NM_000179		48032840	1	no_errors	ENST00000234420	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48032840	G	T	48032840	4	4	131	1	0	0	0	0	0	1	0	0	9897	1291	45	3	3666	3	MSH6	2	48032840	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3856081	48032840	195166533	212	20352										
STON1	11037	genome.wustl.edu	37	chr2	48808733	48808733	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gattagaaaaaccatttaaaGagatacagcttgatccatat	6	6	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:48808733G>T	ENST00000406226.1	+	3	1156	c.961G>T	c.(961-963)Gag>Tag	p.E321*	STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.E321*|STON1_ENST00000404752.1_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.E321*|STON1_ENST00000309835.3_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.E321*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	321	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACCATTTAAAGAGATACAGCT	0.388																																																	0													94	101	99					2																	48808733		2202	4300	6502	SO:0001587	stop_gained	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.961G>T	2.37:g.48808733G>T	ENSP00000384615:p.Glu321*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.E321*	ENST00000406226.1	37	c.961	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.275545	0.98182	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4714	0.94965	0.0:0.0:1.0:0.0	.	.	.	.	X	321	.	ENSP00000310969:E321X	E	+	1	0	STON1-GTF2A1L;STON1	48662237	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.848000	0.86902	2.837000	0.97791	0.591000	0.81541	GAG	STON1-GTF2A1L	-	pfscan_SHD		0.388	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	G	NM_006873		48808733	1	no_errors	ENST00000309827	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48808733	G	T	48808733	4	4	131	1	0	0	0	0	0	1	0	0	15346	943	33	3	963	3	STON1	2	48808733	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	775893	48808733	194390640	213	20353										
LHCGR	3973	genome.wustl.edu	37	chr2	48915735	48915735	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaaaagtctgcaaaggagaGattgcacatgagaaaacgag	12	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:48915735G>T	ENST00000294954.7	-	11	1222	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.L339I|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L374I	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	401					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAAAGGAGAGATTGCACATG	0.443																																																	0													76	75	75					2																	48915735		2203	4300	6503	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1201C>A	2.37:g.48915735G>T	ENSP00000294954:p.Leu401Ile		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.L401I	ENST00000294954.7	37	c.1201	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466095	0.84425	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.91124	-2.79;-2.79;-2.79	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.96633	3.855	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.97884	1.0293	9	.	.	.	.	19.2938	0.94114	0.0:0.0:1.0:0.0	.	401	P22888	LSHR_HUMAN	I	339;401;374	ENSP00000344301:L339I;ENSP00000294954:L401I;ENSP00000386033:L374I	.	L	-	1	0	LHCGR	48769239	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.024000	0.88770	2.791000	0.96007	0.655000	0.94253	CTC	LHCGR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	G	NM_000233.3		48915735	-1	no_errors	ENST00000294954	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48915735	G	T	48915735	3	4	131	1	0	0	0	0	1	0	0	0	8782	942	33	3	902	3	LHCGR	2	48915735	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	107002	48915735	194283638	214	20354										
FSHR	2492	genome.wustl.edu	37	chr2	49210085	49210085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaggctccgtggaaaacatCattaggcaattcttctaaat	8	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:49210085C>A	ENST00000406846.2	-	8	753	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.D212Y|FSHR_ENST00000304421.4_Missense_Mutation_p.D186Y|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	212					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGAAAACATCATTAGGCAAT	0.408									Gonadal Dysgenesis, 46 XX																																								0													100	97	98					2																	49210085		2203	4300	6503	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.634G>T	2.37:g.49210085C>A	ENSP00000384708:p.Asp212Tyr		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.D212Y	ENST00000406846.2	37	c.634	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165280	0.57476	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;D;T;D	0.90620	0.29;-2.7;0.29;-2.7	5.53	5.53	0.82687	.	0.450948	0.26026	N	0.026799	D	0.91630	0.7355	L	0.49350	1.555	0.80722	D	1	D;D;D	0.76494	0.971;0.999;0.994	P;P;P	0.57960	0.826;0.83;0.812	D	0.90043	0.4143	9	.	.	.	.	12.0885	0.53710	0.0:0.9195:0.0:0.0805	.	186;212;212	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	212;212;186;212	ENSP00000384708:D212Y;ENSP00000333908:D212Y;ENSP00000306780:D186Y;ENSP00000415504:D212Y	.	D	-	1	0	FSHR	49063589	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.836000	0.48183	2.882000	0.98803	0.655000	0.94253	GAT	FSHR	-	pfam_Leu-rich_rpt,prints_TSH_rcpt		0.408	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	C			49210085	-1	no_errors	ENST00000406846	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49210085	C	A	49210085	3	1	131	1	0	0	0	0	1	0	0	0	6091	826	29	3	1465	3	FSHR	2	49210085	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	294350	49210085	193989288	215	20355										
NRXN1	9378	genome.wustl.edu	37	chr2	50318533	50318533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccaccactcctcgtgaaacGaactacatggtatttcccat	6	14	0	1	rs199888301		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:50318533G>A	ENST00000406316.2	-	19	5122	c.3646C>T	c.(3646-3648)Cgt>Tgt	p.R1216C	NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216C|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208C|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1256C|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCGTGAAACGAACTACATGG	0.473																																																	0													238	207	217					2																	50318533		2203	4300	6503	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3646C>T	2.37:g.50318533G>A	ENSP00000384311:p.Arg1216Cys		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1208C	ENST00000406316.2	37	c.3622	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919835	0.73098	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.54	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.121992	0.29106	U	0.013137	D	0.89622	0.6768	M	0.90082	3.085	0.47905	D	0.999545	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	P;D;D;P	0.68943	0.859;0.961;0.956;0.802	D	0.91848	0.5489	10	0.87932	D	0	.	15.6747	0.77307	0.0:0.0:0.8616:0.1384	.	1256;181;1216;1208	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	C	181;135;234;1256;1216;1208;1216;1257;1208;1216	ENSP00000341184:R181C;ENSP00000385580:R234C;ENSP00000385142:R1256C;ENSP00000384311:R1216C;ENSP00000434015:R1208C;ENSP00000385017:R1216C;ENSP00000385434:R1208C;ENSP00000385681:R1216C	ENSP00000341184:R181C	R	-	1	0	NRXN1	50172037	1.000000	0.71417	0.902000	0.35471	0.992000	0.81027	4.478000	0.60230	1.309000	0.44985	0.563000	0.77884	CGT	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	G			50318533	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	missense	SNP	0.978	A	A	50318533	G	A	50318533	3	1	131	1	0	0	0	0	1	0	0	0	10689	1058	37	1	897	1	NRXN1	2	50318533	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1108448	50318533	192880840	216	20356										
GPR75	10936	genome.wustl.edu	37	chr2	54080632	54080632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtttcatgatgggaggatTtgtttctgttgacttcgagg	13	4	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54080632T>C	ENST00000394705.2	-	2	1532	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	421					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGGGAGGATTTGTTTCTGTT	0.453																																																	0													124	127	126					2																	54080632		2203	4300	6503	SO:0001583	missense	10936			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1262A>G	2.37:g.54080632T>C	ENSP00000378195:p.Lys421Arg		B2RC02|Q6NWR2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.K421R	ENST00000394705.2	37	c.1262	CCDS1849.1	2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192498	0.78902	.	.	ENSG00000119737	ENST00000394705	T	0.27890	1.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.57406	-0.7817	9	0.46703	T	0.11	-9.7284	15.6961	0.77499	0.0:0.0:0.0:1.0	.	421	O95800	GPR75_HUMAN	R	421	ENSP00000378195:K421R	ENSP00000378195:K421R	K	-	2	0	GPR75	53934136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.607000	0.82883	2.107000	0.64212	0.459000	0.35465	AAA	GPR75	-	NULL		0.453	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	T			54080632	-1	no_errors	ENST00000394705	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54080632	T	C	54080632	3	2	131	1	0	0	0	0	1	0	0	0	6727	1841	64	5	364	5	GPR75	2	54080632	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3762099	54080632	189118741	217	20357										
PSME4	23198	genome.wustl.edu	37	chr2	54154547	54154547	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttacttctgtgaggtcatttCtttcttgtagtacagatgaa	8	6	4	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54154547C>A	ENST00000404125.1	-	12	1632	c.1577G>T	c.(1576-1578)aGa>aTa	p.R526I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	526					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGGTCATTTCTTTCTTGTAG	0.333																																																	0													125	131	129					2																	54154547		2203	4300	6503	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1577G>T	2.37:g.54154547C>A	ENSP00000384211:p.Arg526Ile		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.R526I	ENST00000404125.1	37	c.1577	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139263	0.56936	.	.	ENSG00000068878	ENST00000404125	T	0.07567	3.18	5.83	4.95	0.65309	.	0.048425	0.85682	D	0.000000	T	0.07503	0.0189	L	0.39020	1.185	0.80722	D	1	B	0.31581	0.329	B	0.23574	0.047	T	0.32079	-0.9920	10	0.22109	T	0.4	-0.1138	14.7271	0.69351	0.0:0.9309:0.0:0.0691	.	526	Q14997	PSME4_HUMAN	I	526	ENSP00000384211:R526I	ENSP00000374643:R526I	R	-	2	0	PSME4	54008051	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.892000	0.56235	1.471000	0.48121	0.655000	0.94253	AGA	PSME4	-	superfamily_ARM-type_fold		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	C	XM_040158		54154547	-1	no_errors	ENST00000404125	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54154547	C	A	54154547	3	1	131	1	0	0	0	0	1	0	0	0	12736	913	32	3	4094	3	PSME4	2	54154547	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	73915	54154547	189044826	218	20358										
C2orf73	129852	genome.wustl.edu	37	chr2	54587518	54587518	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtctctgccaacaaaattCtcaggagctgttagagccta	9	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54587518C>A	ENST00000398634.2	+	5	725	c.683C>A	c.(682-684)tCt>tAt	p.S228Y	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	228										breast(2)	2						CAACAAAATTCTCAGGAGCTG	0.478																																																	0													35	34	34					2																	54587518		1894	4119	6013	SO:0001583	missense	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.683C>A	2.37:g.54587518C>A	ENSP00000381631:p.Ser228Tyr		A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	NULL	p.S228Y	ENST00000398634.2	37	c.683	CCDS46285.1	2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690067	0.68271	.	.	ENSG00000177994	ENST00000398634;ENST00000447328	T;T	0.41758	0.99;0.99	5.14	4.26	0.50523	.	0.092630	0.46442	D	0.000292	T	0.60971	0.2310	M	0.69823	2.125	0.39692	D	0.971067	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.961	T	0.64685	-0.6349	9	.	.	.	-28.1132	13.666	0.62396	0.0:0.925:0.0:0.075	.	170;228	B7ZM12;Q8N5S3	.;CB073_HUMAN	Y	228;170	ENSP00000381631:S228Y;ENSP00000389570:S170Y	.	S	+	2	0	C2orf73	54441022	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	4.034000	0.57289	1.286000	0.44565	0.650000	0.86243	TCT	C2orf73	-	NULL		0.478	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	C	NM_001100396		54587518	1	no_errors	ENST00000398634	ensembl	human	known	70_37	missense	SNP	0.999	A	A	54587518	C	A	54587518	3	1	131	1	0	0	0	0	1	0	0	0	2197	913	32	3	701	3	C2orf73	2	54587518	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	432971	54587518	188611855	219	20359										
SPTBN1	6711	genome.wustl.edu	37	chr2	54857139	54857139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccaagtgagaaggaaatcaAagcccagcaggacaaactca	9	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54857139A>G	ENST00000356805.4	+	15	3061	c.2780A>G	c.(2779-2781)aAa>aGa	p.K927R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.K914R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	927					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGGAAATCAAAGCCCAGCAG	0.572																																																	0													66	61	63					2																	54857139		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2780A>G	2.37:g.54857139A>G	ENSP00000349259:p.Lys927Arg		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.K927R	ENST00000356805.4	37	c.2780	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	A	7.273	0.607558	0.14002	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50813	0.73;0.73	5.78	4.64	0.57946	.	0.092789	0.64402	N	0.000001	T	0.21590	0.0520	N	0.03608	-0.345	0.32946	D	0.519055	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.22556	-1.0213	10	0.07482	T	0.82	.	10.9789	0.47482	0.9264:0.0:0.0736:0.0	.	914;927	Q01082-3;Q01082	.;SPTB2_HUMAN	R	927;914	ENSP00000349259:K927R;ENSP00000334156:K914R	ENSP00000334156:K914R	K	+	2	0	SPTBN1	54710643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.435000	0.59941	1.043000	0.40175	0.533000	0.62120	AAA	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	A			54857139	1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54857139	A	G	54857139	3	3	131	1	0	0	0	0	1	0	0	0	15149	14	1	5	2947	5	SPTBN1	2	54857139	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	269621	54857139	188342234	220	20360										
C2orf63	130162	genome.wustl.edu	37	chr2	55403113	55403113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatcatttatcataagacttTctactgcatctgtggggaaa	7	7	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55403113T>C	ENST00000401408.1	-	13	1919	c.1574A>G	c.(1573-1575)gAa>gGa	p.E525G	CLHC1_ENST00000407122.1_Missense_Mutation_p.E525G|CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406437.2_Missense_Mutation_p.E76G|CLHC1_ENST00000406076.1_Missense_Mutation_p.E403G	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	525																	CATAAGACTTTCTACTGCATC	0.303																																																	0													78	78	78					2																	55403113		2203	4300	6503	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1574A>G	2.37:g.55403113T>C	ENSP00000384869:p.Glu525Gly		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.E525G	ENST00000401408.1	37	c.1574	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012390	0.35511	.	.	ENSG00000162994	ENST00000406437;ENST00000407122;ENST00000401408;ENST00000406076	T;T;T;T	0.37752	1.18;2.07;2.07;2.07	5.91	5.91	0.95273	.	0.064526	0.64402	D	0.000019	T	0.53883	0.1824	M	0.73598	2.24	0.19775	N	0.999951	D	0.69078	0.997	P	0.59643	0.861	T	0.56032	-0.8046	10	0.72032	D	0.01	-20.2455	10.3932	0.44185	0.0:0.0:0.1639:0.8361	.	525	Q8NHS4	CB063_HUMAN	G	76;525;525;403	ENSP00000384810:E76G;ENSP00000385778:E525G;ENSP00000384869:E525G;ENSP00000385512:E403G	ENSP00000384869:E525G	E	-	2	0	C2orf63	55256617	0.301000	0.24444	0.128000	0.21923	0.095000	0.18619	1.203000	0.32284	2.270000	0.75569	0.528000	0.53228	GAA	CLHC1	-	pirsf_Clathrin_heavy-chain-rel		0.303	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	T	NM_152385		55403113	-1	no_errors	ENST00000401408	ensembl	human	known	70_37	missense	SNP	0.154	C	C	55403113	T	C	55403113	3	2	131	1	0	0	0	0	1	0	0	0	2187	1783	62	5	190	5	C2orf63	2	55403113	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	545974	55403113	187796260	221	20361										
MTIF2	4528	genome.wustl.edu	37	chr2	55479767	55479767	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagtatcaagaaaagttatCttttccccagaaggcagaga	10	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55479767C>A	ENST00000263629.4	-	8	1002	c.687G>T	c.(685-687)aaG>aaT	p.K229N	MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Missense_Mutation_p.K229N|MTIF2_ENST00000394600.3_Missense_Mutation_p.K229N	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	229	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GAAAAGTTATCTTTTCCCCAG	0.413																																																	0													70	66	67					2																	55479767		2203	4300	6503	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.687G>T	2.37:g.55479767C>A	ENSP00000263629:p.Lys229Asn		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom	p.K229N	ENST00000263629.4	37	c.687	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839377	0.91117	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.71461	-0.57;-0.57;-0.57	6.07	4.3	0.51218	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.047462	0.85682	D	0.000000	T	0.78528	0.4297	L	0.41632	1.29	0.58432	D	0.999995	P	0.35192	0.489	P	0.59703	0.862	T	0.78117	-0.2329	10	0.56958	D	0.05	-11.3663	12.9785	0.58549	0.0:0.8697:0.0:0.1303	.	229	P46199	IF2M_HUMAN	N	229	ENSP00000384481:K229N;ENSP00000263629:K229N;ENSP00000378099:K229N	ENSP00000263629:K229N	K	-	3	2	MTIF2	55333271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.418000	0.44662	0.912000	0.36772	0.655000	0.94253	AAG	MTIF2	-	pfam_EF_GTP-bd_dom,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,tigrfam_Small_GTP-bd_dom		0.413	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	C	NM_002453		55479767	-1	no_errors	ENST00000263629	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55479767	C	A	55479767	3	1	131	1	0	0	0	0	1	0	0	0	9957	912	32	3	1532	3	MTIF2	2	55479767	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	76654	55479767	187719606	222	20362										
PNPT1	87178	genome.wustl.edu	37	chr2	55906874	55906874	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaagtactagaagacatttCttttcttgttgggttaacaa	7	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55906874C>A	ENST00000447944.2	-	8	708	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	208					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAGACATTTCTTTTCTTGTT	0.328																																																	0													121	122	121					2																	55906874		2201	4299	6500	SO:0001587	stop_gained	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.622G>T	2.37:g.55906874C>A	ENSP00000400646:p.Glu208*		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Nonsense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.E208*	ENST00000447944.2	37	c.622	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210848	0.79240	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.0	5.0	0.66597	.	0.054540	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.2309	18.3432	0.90313	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000386075:E208X	E	-	1	0	PNPT1	55760378	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.676000	0.54612	2.517000	0.84864	0.549000	0.68633	GAA	PNPT1	-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase		0.328	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	C	NM_033109		55906874	-1	no_errors	ENST00000415374	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55906874	C	A	55906874	4	1	131	1	0	0	0	0	0	1	0	0	12197	922	32	3	1813	3	PNPT1	2	55906874	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	427107	55906874	187292499	223	20363										
KIAA1841	84542	genome.wustl.edu	37	chr2	61310442	61310442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaaggacaaaaaagataaaTttaaaaggtaatttcaaaag	6	2	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:61310442T>G	ENST00000402291.1	+	8	1124	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F295V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F295V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F295V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	295										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAAAGATAAATTTAAAAGGTA	0.269																																																	0													36	34	35					2																	61310442		2203	4298	6501	SO:0001583	missense	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.883T>G	2.37:g.61310442T>G	ENSP00000385579:p.Phe295Val		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.F295V	ENST00000402291.1	37	c.883	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714611	0.30413	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.48	4.32	0.51571	.	0.050318	0.85682	D	0.000000	T	0.45518	0.1346	L	0.48877	1.53	0.50313	D	0.999866	B;B;B	0.28026	0.117;0.085;0.198	B;B;B	0.28784	0.057;0.094;0.081	T	0.31138	-0.9954	9	0.25751	T	0.34	-12.3187	6.1396	0.20253	0.1428:0.0764:0.0:0.7808	.	295;295;295	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	295	.	ENSP00000295031:F295V	F	+	1	0	KIAA1841	61163946	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	5.940000	0.70187	1.013000	0.39391	0.533000	0.62120	TTT	KIAA1841	-	pfam_DUF3342		0.269	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	T	NM_032506		61310442	1	no_errors	ENST00000356719	ensembl	human	known	70_37	missense	SNP	0.998	G	G	61310442	T	G	61310442	3	3	131	1	0	0	0	0	1	0	0	0	8281	1493	52	5	905	5	KIAA1841	2	61310442	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5403568	61310442	181888931	224	20364										
ARHGAP25	9938	genome.wustl.edu	37	chr2	69040466	69040466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgttaaagctctacctccGagacctcccagagcccgtgg	9	16	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:69040466G>A	ENST00000295381.3	+	6	1138	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R241Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R233Q|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R201Q|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R215Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R234Q|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R234Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	240	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTCTACCTCCGAGACCTCCCA	0.507																																																	0													99	91	94					2																	69040466		2203	4300	6503	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.719G>A	2.37:g.69040466G>A	ENSP00000295381:p.Arg240Gln		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R241Q	ENST00000295381.3	37	c.722		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.018581|6.018581	0.97205|0.97205	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	.|T;T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68933|0.68933	0.3055|0.3055	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.987;1.0;1.0;1.0;1.0;0.998	.|D;P;D;D;D;D;D	.|0.97110	.|1.0;0.894;0.999;0.999;0.999;0.996;0.968	T|T	0.76572|0.76572	-0.2910|-0.2910	5|10	.|0.49607	.|T	.|0.09	.|.	18.4629|18.4629	0.90746|0.90746	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;215;241;234;233;234;240	.|E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.|.;.;.;.;.;.;RHG25_HUMAN	K|Q	100|215;240;241;201;233;234;234;234;225	.|ENSP00000439917:R215Q;ENSP00000295381:R240Q;ENSP00000386911:R241Q;ENSP00000420583:R201Q;ENSP00000386863:R233Q;ENSP00000386241:R234Q;ENSP00000417139:R234Q	.|ENSP00000295381:R240Q	E|R	+|+	1|2	0|0	ARHGAP25|ARHGAP25	68893970|68893970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	GAG|CGA	ARHGAP25	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.507	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		G	NM_014882		69040466	1	no_errors	ENST00000409202	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69040466	G	A	69040466	3	1	131	1	0	0	0	0	1	0	0	0	874	1058	37	1	784	1	ARHGAP25	2	69040466	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7730024	69040466	174158907	225	20365										
ATP6V1B1	525	genome.wustl.edu	37	chr2	71187139	71187139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgggcatttctcctattgaCgtcatgaacagcattgcccg	9	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:71187139C>T	ENST00000234396.4	+	6	589	c.516C>T	c.(514-516)gaC>gaT	p.D172D	ATP6V1B1_ENST00000412314.1_Silent_p.D172D|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	172					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCCTATTGACGTCATGAACA	0.617																																																	0													88	78	82					2																	71187139		2203	4300	6503	SO:0001819	synonymous_variant	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.516C>T	2.37:g.71187139C>T			Q53FY0|Q6P4H6	Silent	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.D172	ENST00000234396.4	37	c.516	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu		0.617	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	C	NM_001692		71187139	1	no_errors	ENST00000234396	ensembl	human	known	70_37	silent	SNP	0.726	T	T	71187139	C	T	71187139	2	4	131	1	0	0	0	0	0	0	0	1	1179	535	19	2		2	ATP6V1B1	2	71187139	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2146673	71187139	172012234	226	20366										
DYSF	8291	genome.wustl.edu	37	chr2	71829914	71829914	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgtgggccaggtgcaggaGacatcaaggatcctggatga	16	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:71829914G>T	ENST00000258104.3	+	36	4159	c.3882G>T	c.(3880-3882)gaG>gaT	p.E1294D	DYSF_ENST00000413539.2_Missense_Mutation_p.E1325D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1294D|DYSF_ENST00000409762.1_Missense_Mutation_p.E1311D|DYSF_ENST00000410041.1_Missense_Mutation_p.E1312D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1281D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1311D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1312D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1295D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.E1295D|DYSF_ENST00000409651.1_Missense_Mutation_p.E1326D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1294					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGTGCAGGAGACATCAAGGA	0.572																																																	0													52	52	52					2																	71829914		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3882G>T	2.37:g.71829914G>T	ENSP00000258104:p.Glu1294Asp		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.E1325D	ENST00000258104.3	37	c.3975	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	7.807	0.714958	0.15306	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83591	-1.72;-1.71;-1.73;-1.73;-1.71;-1.72;-1.72;-1.73;-1.74;-1.73;-1.72	4.34	-8.68	0.00859	.	1.013530	0.07892	N	0.971304	T	0.64594	0.2612	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.001;0.001;0.001;0.001;0.002;0.002;0.002;0.001;0.001;0.001;0.001;0.001;0.001;0.0	T	0.50466	-0.8825	10	0.12430	T	0.62	-0.0329	3.4736	0.07577	0.2118:0.44:0.2162:0.132	.	37;1326;1312;1295;1281;1312;1281;1311;1280;1325;1311;1294;1280;1295;1294	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	1325;1311;1311;1294;1294;1326;1295;1281;1295;1312;1312	ENSP00000407046:E1325D;ENSP00000387137:E1311D;ENSP00000386547:E1311D;ENSP00000398305:E1294D;ENSP00000258104:E1294D;ENSP00000386683:E1326D;ENSP00000377678:E1295D;ENSP00000386285:E1281D;ENSP00000386512:E1295D;ENSP00000386881:E1312D;ENSP00000386617:E1312D	ENSP00000258104:E1294D	E	+	3	2	DYSF	71683422	0.003000	0.15002	0.001000	0.08648	0.684000	0.39900	-0.432000	0.06956	-2.140000	0.00806	-1.097000	0.02148	GAG	DYSF	-	NULL		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	G	NM_003494		71829914	1	no_errors	ENST00000413539	ensembl	human	known	70_37	missense	SNP	0.000	T	T	71829914	G	T	71829914	3	4	131	1	0	0	0	0	1	0	0	0	4869	933	33	3	4216	3	DYSF	2	71829914	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	642775	71829914	171369459	227	20367										
ALMS1	7840	genome.wustl.edu	37	chr2	73680465	73680465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacttttgatggaggcagaaAatatggcactgaaacgatgc	11	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:73680465A>C	ENST00000264448.6	+	8	6919	c.6808A>C	c.(6808-6810)Aat>Cat	p.N2270H	ALMS1_ENST00000377715.1_Missense_Mutation_p.N2270H|ALMS1_ENST00000409009.1_Missense_Mutation_p.N2228H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2270					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGAGGCAGAAAATATGGCACT	0.388																																																	0													69	67	68					2																	73680465		1849	4090	5939	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6808A>C	2.37:g.73680465A>C	ENSP00000264448:p.Asn2270His		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.N2270H	ENST00000264448.6	37	c.6808	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406526	0.62399	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19250	3.09;3.09;2.16	5.82	4.68	0.58851	.	0.115539	0.39615	N	0.001303	T	0.36963	0.0986	L	0.54323	1.7	0.31869	N	0.619958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.986;0.99;0.99	T	0.45614	-0.9249	10	0.87932	D	0	.	7.7949	0.29141	0.9096:0.0:0.0904:0.0	.	2270;2228;2270	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2228;2270;2270	ENSP00000386627:N2228H;ENSP00000264448:N2270H;ENSP00000366944:N2270H	ENSP00000264448:N2270H	N	+	1	0	ALMS1	73533973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.102000	0.41796	2.222000	0.72286	0.533000	0.62120	AAT	ALMS1	-	NULL		0.388	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	A	NM_015120		73680465	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73680465	A	C	73680465	3	2	131	1	0	0	0	0	1	0	0	0	535	14	1	5	6838	5	ALMS1	2	73680465	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1850551	73680465	169518908	228	20368										
CCDC142	84865	genome.wustl.edu	37	chr2	74709300	74709300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgtgcggcccctgggacgTggctcaaggcttttctctgt	14	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:74709300T>G	ENST00000393965.3	-	1	1061	c.665A>C	c.(664-666)cAc>cCc	p.H222P	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.H222P	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	222										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCCTGGGACGTGGCTCAAGGC	0.687																																																	0													41	52	48					2																	74709300		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.665A>C	2.37:g.74709300T>G	ENSP00000377537:p.His222Pro		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.H222P	ENST00000393965.3	37	c.665		2	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478951	0.26511	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.85013	-1.93;-1.93	4.58	-3.86	0.04230	.	1.252600	0.05400	N	0.540517	T	0.67850	0.2937	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.50259	-0.8849	10	0.35671	T	0.21	0.6504	0.4302	0.00470	0.3095:0.2841:0.1489:0.2575	.	222;222;222	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	P	222	ENSP00000377537:H222P;ENSP00000290418:H222P	ENSP00000290418:H222P	H	-	2	0	CCDC142	74562808	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-0.106000	0.10890	-0.543000	0.06240	0.459000	0.35465	CAC	CCDC142	-	NULL		0.687	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	T	NM_032779		74709300	-1	no_errors	ENST00000393965	ensembl	human	known	70_37	missense	SNP	0.000	G	G	74709300	T	G	74709300	3	3	131	1	0	0	0	0	1	0	0	0	2781	1696	59	5	1602	5	CCDC142	2	74709300	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1028835	74709300	168490073	229	20369										
AUP1	165545	genome.wustl.edu	37	chr2	74755126	74755126	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagttggcgatgaacaggacGaagccacctgcaaagaaaca	11	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:74755126G>A	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R227C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R227C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGAACAGGACGAAGCCACCTG	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											108	111	110					2																	74755126		1976	4167	6143	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755126G>A	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_CUE,smart_CUE,pfscan_CUE	p.R227C	ENST00000404568.3	37	c.679	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630767	0.46944	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93488	-3.23	4.9	4.9	0.64082	.	0.552015	0.18698	N	0.133668	D	0.83830	0.5339	N	0.08118	0	0.25282	N	0.989427	P;P;P	0.46327	0.876;0.705;0.77	B;B;B	0.39152	0.183;0.01;0.292	T	0.78663	-0.2116	10	0.72032	D	0.01	1.282	9.0626	0.36444	0.0973:0.0:0.9027:0.0	.	284;293;227	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	227;291;229	ENSP00000366748:R227C	ENSP00000258081:R291C	R	-	1	0	AUP1	74608634	1.000000	0.71417	0.869000	0.34112	0.987000	0.75469	6.093000	0.71422	2.552000	0.86080	0.563000	0.77884	CGT	AUP1	-	NULL		0.577	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	HGNC	protein_coding	OTTHUMT00000252230.3	G	NM_133637		74755126	-1	no_errors	ENST00000377526	ensembl	human	known	70_37	missense	SNP	0.764	A	A	74755126	G	A	74755126	1	1	131	0	1	0	0	0	0	0	0	0	1221	1058	37	1		1	AUP1	2	74755126	5'Flank	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	45826	74755126	168444247	230	20370										
DNAH6	1768	genome.wustl.edu	37	chr2	84800608	84800608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taggaaaccattcaggccgcAtttgaatcagcccgcatcta	8	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:84800608A>G	ENST00000237449.6	+	11	1829	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	DNAH6_ENST00000398278.2_Silent_p.A607A|DNAH6_ENST00000389394.3_Silent_p.A607A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	607	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTCAGGCCGCATTTGAATCAG	0.328																																																	0													85	89	87					2																	84800608		2203	4300	6503	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1821A>G	2.37:g.84800608A>G			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A607	ENST00000237449.6	37	c.1821	CCDS46348.1	2																																																																																			DNAH6	-	NULL		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	A	NM_001370		84800608	1	no_errors	ENST00000237449	ensembl	human	known	70_37	silent	SNP	1.000	G	G	84800608	A	G	84800608	2	3	131	1	0	0	0	0	0	0	0	1	4615	204	8	5		5	DNAH6	2	84800608	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	10045482	84800608	158398765	231	20371										
DNAH6	1768	genome.wustl.edu	37	chr2	85023530	85023530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgaaacattagaagaagaTtataaatactctgaatcagg	7	6	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:85023530T>G	ENST00000237449.6	+	68	11348	c.11340T>G	c.(11338-11340)gaT>gaG	p.D3780E	DNAH6_ENST00000389394.3_Missense_Mutation_p.D3780E			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3780					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAGAAGAAGATTATAAATACT	0.393																																																	0													74	69	71					2																	85023530		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11340T>G	2.37:g.85023530T>G	ENSP00000237449:p.Asp3780Glu		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3780E	ENST00000237449.6	37	c.11340	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	T	9.675	1.147840	0.21288	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.08193	3.12;3.12	6.17	2.58	0.30949	Dynein heavy chain (1);	1.080440	0.07126	N	0.844717	T	0.04497	0.0123	N	0.11064	0.09	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	T	0.37865	-0.9687	10	0.18710	T	0.47	.	4.5248	0.11976	0.0:0.1853:0.1694:0.6453	.	3780;539	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	E	3780	ENSP00000374045:D3780E;ENSP00000237449:D3780E	ENSP00000237449:D3780E	D	+	3	2	DNAH6	84877041	0.330000	0.24705	0.818000	0.32626	0.552000	0.35366	0.269000	0.18589	1.118000	0.41863	0.533000	0.62120	GAT	DNAH6	-	pfam_Dynein_heavy_dom		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	T	NM_001370		85023530	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.763	G	G	85023530	T	G	85023530	3	3	131	1	0	0	0	0	1	0	0	0	4615	1490	52	5	11610	5	DNAH6	2	85023530	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	222922	85023530	158175843	232	20372										
GGCX	2677	genome.wustl.edu	37	chr2	85777676	85777676	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaaatattgttgtgaacttAcctgcggcgaaagacataga	9	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:85777676A>G	ENST00000233838.4	-	14	2165		c.e14+1		GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Splice_Site	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TTGTGAACTTACCTGCGGCGA	0.468																																																	0													47	50	49					2																	85777676		2203	4300	6503	SO:0001630	splice_region_variant	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2084+1T>C	2.37:g.85777676A>G			B4DMC5|E9PEE1|Q14415|Q6GU45	Splice_Site	SNP	-	e14+2	ENST00000233838.4	37	c.2084+2	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948124	0.73787	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0725	0.64868	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGCX	85631187	1.000000	0.71417	0.927000	0.36925	0.697000	0.40408	7.753000	0.85153	2.205000	0.71048	0.533000	0.62120	.	GGCX	-	-		0.468	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	A	NM_000821	Intron	85777676	-1	no_errors	ENST00000233838	ensembl	human	known	70_37	splice_site	SNP	0.997	G	G	85777676	A	G	85777676	5	3	131	1	0	0	0	0	0	0	1	0	6375	405	14	5	198	5	GGCX	2	85777676	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	754146	85777676	157421697	233	20373										
VAMP5	10791	genome.wustl.edu	37	chr2	85818882	85818882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagcggtgccagcagcaggCgaacgaggtgacggaaatta	17	8	0	1	rs200377485		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:85818882C>T	ENST00000306384.4	+	2	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	13	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						CAGCAGCAGGCGAACGAGGTG	0.602																																																	0													127	108	115					2																	85818882		2203	4300	6503	SO:0001583	missense	10791			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.38C>T	2.37:g.85818882C>T	ENSP00000305647:p.Ala13Val		Q9P0T2	Missense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.A13V	ENST00000306384.4	37	c.38	CCDS1980.1	2	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944551	0.34283	.	.	ENSG00000168899	ENST00000306384	T	0.30182	1.54	4.84	4.84	0.62591	Synaptobrevin (3);	0.088276	0.45126	D	0.000398	T	0.23532	0.0569	N	0.01686	-0.76	0.36802	D	0.885393	D	0.89917	1.0	D	0.87578	0.998	T	0.17137	-1.0379	10	0.02654	T	1	.	13.4194	0.60987	0.0:1.0:0.0:0.0	.	13	O95183	VAMP5_HUMAN	V	13	ENSP00000305647:A13V	ENSP00000305647:A13V	A	+	2	0	VAMP5	85672393	0.984000	0.35163	0.956000	0.39512	0.971000	0.66376	2.815000	0.48018	2.240000	0.73641	0.561000	0.74099	GCG	VAMP5	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP5	HGNC	protein_coding	OTTHUMT00000252484.2	C	NM_006634		85818882	1	no_errors	ENST00000306384	ensembl	human	known	70_37	missense	SNP	0.980	T	T	85818882	C	T	85818882	3	4	131	1	0	0	0	0	1	0	0	0	17147	768	27	2	44	2	VAMP5	2	85818882	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	41206	85818882	157380491	234	20374										
RNF103	7844	genome.wustl.edu	37	chr2	86831408	86831408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtctgtgttctcactttccGagtcattttcagtatcttga	7	9	5	1	rs143477816		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:86831408G>A	ENST00000237455.4	-	4	2584	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	539					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S539L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CTCACTTTCCGAGTCATTTTC	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											160	167	165					2																	86831408		2203	4300	6503	SO:0001583	missense	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1616C>T	2.37:g.86831408G>A	ENSP00000237455:p.Ser539Leu		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.S539L	ENST00000237455.4	37	c.1616	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061095	0.19987	.	.	ENSG00000239305	ENST00000237455	T	0.44482	0.92	5.73	5.73	0.89815	.	0.259165	0.39083	N	0.001469	T	0.36110	0.0955	L	0.54323	1.7	0.54753	D	0.999987	P	0.44659	0.84	B	0.25614	0.062	T	0.41484	-0.9506	10	0.49607	T	0.09	-9.226	19.8992	0.96978	0.0:0.0:1.0:0.0	.	539	O00237	RN103_HUMAN	L	539	ENSP00000237455:S539L	ENSP00000237455:S539L	S	-	2	0	RNF103	86684919	1.000000	0.71417	0.993000	0.49108	0.307000	0.27823	3.616000	0.54174	2.699000	0.92147	0.460000	0.39030	TCG	RNF103	-	NULL		0.398	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	G	NM_005667		86831408	-1	no_errors	ENST00000237455	ensembl	human	known	70_37	missense	SNP	0.999	A	A	86831408	G	A	86831408	3	1	131	1	0	0	0	0	1	0	0	0	13453	1059	37	1	445	1	RNF103	2	86831408	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1012526	86831408	156367965	235	20375										
ZNF2	7549	genome.wustl.edu	37	chr2	95847075	95847075	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagccctgtccagggaaattCtcactaaagagagacaccag	9	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:95847075C>A	ENST00000340539.5	+	5	964	c.502C>A	c.(502-504)Ctc>Atc	p.L168I	ZNF2_ENST00000295210.6_Missense_Mutation_p.L130I|ZNF2_ENST00000398107.2_Missense_Mutation_p.L126I|ZNF2_ENST00000453539.2_Missense_Mutation_p.L181I|ZNF2_ENST00000425369.1_Missense_Mutation_p.L88I	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAGGGAAATTCTCACTAAAGA	0.557																																																	0													55	64	61					2																	95847075		2090	4257	6347	SO:0001583	missense	7549			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.502C>A	2.37:g.95847075C>A	ENSP00000345392:p.Leu168Ile		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L168I	ENST00000340539.5	37	c.502	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399189	0.25291	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.06371	3.31;3.47;3.32;3.44;3.47	5.23	3.36	0.38483	.	0.704213	0.12381	N	0.473889	T	0.05318	0.0141	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.008	B;B;B	0.14023	0.01;0.01;0.005	T	0.34700	-0.9818	10	0.87932	D	0	-3.5855	8.1421	0.31089	0.1699:0.637:0.1932:0.0	.	130;126;167	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	I	126;168;88;130;181	ENSP00000381178:L126I;ENSP00000345392:L168I;ENSP00000406017:L88I;ENSP00000295210:L130I;ENSP00000411051:L181I	ENSP00000295210:L130I	L	+	1	0	ZNF2	95210802	0.010000	0.17322	0.001000	0.08648	0.009000	0.06853	0.768000	0.26590	0.836000	0.34901	0.655000	0.94253	CTC	ZNF2	-	NULL		0.557	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	C	NM_021088		95847075	1	no_errors	ENST00000340539	ensembl	human	known	70_37	missense	SNP	0.025	A	A	95847075	C	A	95847075	3	1	131	1	0	0	0	0	1	0	0	0	17790	913	32	3	516	3	ZNF2	2	95847075	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9015667	95847075	147352298	236	20376										
GPAT2	150763	genome.wustl.edu	37	chr2	96698050	96698050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggagccacattacctctcGgccactggggctgctccttg	12	14	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:96698050G>A	ENST00000434632.1	-	3	517	c.58C>T	c.(58-60)Cga>Tga	p.R20*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.R20*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.R20*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.R20*|GPAT2_ENST00000488515.1_5'Flank			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	20					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						ATTACCTCTCGGCCACTGGGG	0.572																																																	0													34	39	38					2																	96698050		1892	3966	5858	SO:0001587	stop_gained	150763			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.58C>T	2.37:g.96698050G>A	ENSP00000389395:p.Arg20*		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Nonsense_Mutation	SNP	smart_Plipid/glycerol_acylTrfase	p.R20*	ENST00000434632.1	37	c.58	CCDS42714.1	2	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952179	0.18431	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137;ENST00000439254	.	.	.	3.62	2.74	0.32292	.	1.148190	0.06517	N	0.738951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	7.1488	0.25597	0.1226:0.0:0.8774:0.0	.	.	.	.	X	20	.	ENSP00000352547:R20X	R	-	1	2	GPAT2	96061777	0.298000	0.24417	0.011000	0.14972	0.042000	0.13812	4.232000	0.58645	1.129000	0.42072	0.444000	0.29173	CGA	GPAT2	-	NULL		0.572	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAT2	HGNC	protein_coding	OTTHUMT00000338786.1	G	NM_207328		96698050	-1	no_errors	ENST00000359548	ensembl	human	known	70_37	nonsense	SNP	0.012	A	A	96698050	G	A	96698050	4	1	131	1	0	0	0	0	0	1	0	0	6608	1124	39	2	2413	2	GPAT2	2	96698050	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	850975	96698050	146501323	237	20377										
MRPL30	51263	genome.wustl.edu	37	chr2	99804685	99804685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatttgtacagattggattCgtcacaaattcaccagatca	6	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:99804685C>T	ENST00000338148.3	+	3	295	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	MRPL30_ENST00000410042.1_Missense_Mutation_p.R33C|C2orf15_ENST00000512183.2_Missense_Mutation_p.R33C|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000409145.1_Missense_Mutation_p.R33C	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	33						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGATTGGATTCGTCACAAATT	0.299																																																	0													58	59	59					2																	99804685		2203	4300	6503	SO:0001583	missense	150590			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.97C>T	2.37:g.99804685C>T	ENSP00000338057:p.Arg33Cys		A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like	p.R63C	ENST00000338148.3	37	c.187	CCDS2041.1	2	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417789	0.62622	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409145;ENST00000409841	T;T;T	0.62788	0.0;0.0;0.0	5.31	5.31	0.75309	.	0.131173	0.49305	D	0.000146	T	0.76969	0.4062	M	0.72894	2.215	0.58432	D	0.999999	B;D	0.89917	0.071;1.0	B;D	0.66196	0.01;0.942	T	0.77264	-0.2652	10	0.51188	T	0.08	-17.6709	16.5155	0.84299	0.0:1.0:0.0:0.0	.	33;33	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	C	33;46;33;33;33;33	ENSP00000420959:R33C;ENSP00000338057:R33C;ENSP00000386752:R33C	ENSP00000312464:R46C	R	+	1	0	C2orf15;MRPL30	99171117	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.224000	0.51238	2.759000	0.94783	0.643000	0.83706	CGT	C2orf15	-	NULL		0.299	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf15	HGNC	protein_coding	OTTHUMT00000253130.2	C			99804685	1	no_errors	ENST00000424491	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99804685	C	T	99804685	3	4	131	1	0	0	0	0	1	0	0	0	9817	884	31	1	103	1	MRPL30	2	99804685	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3106635	99804685	143394688	238	20378										
LYG1	129530	genome.wustl.edu	37	chr2	99907879	99907879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agccagcctttcagaagcacGaactcctaaaccaaacgcaa	6	14	1	1	rs267599508		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:99907879G>A	ENST00000409448.1	-	6	470	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	LYG1_ENST00000308528.4_Missense_Mutation_p.R52C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	52					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TCAGAAGCACGAACTCCTAAA	0.463																																																	0													111	90	97					2																	99907879		2203	4300	6503	SO:0001583	missense	129530			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.154C>T	2.37:g.99907879G>A	ENSP00000386923:p.Arg52Cys		Q53RV9	Missense_Mutation	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.R52C	ENST00000409448.1	37	c.154	CCDS2043.1	2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329154	0.24167	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.82	3.93	0.45458	Lysozyme-like domain (1);	0.100557	0.44902	D	0.000409	T	0.66723	0.2818	M	0.68317	2.08	0.47094	D	0.999317	D	0.71674	0.998	P	0.57371	0.819	T	0.67810	-0.5574	8	.	.	.	-11.7141	11.2238	0.48871	0.0:0.1853:0.8147:0.0	.	52	Q8N1E2	LYG1_HUMAN	C	52	.	.	R	-	1	0	LYG1	99274311	0.023000	0.18921	0.854000	0.33618	0.308000	0.27856	1.656000	0.37355	1.385000	0.46445	-0.181000	0.13052	CGT	LYG1	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23		0.463	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1	G	NM_174898		99907879	-1	no_errors	ENST00000308528	ensembl	human	known	70_37	missense	SNP	0.912	A	A	99907879	G	A	99907879	3	1	131	1	0	0	0	0	1	0	0	0	9127	1058	37	1	442	1	LYG1	2	99907879	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	103194	99907879	143291494	239	20379										
AFF3	3899	genome.wustl.edu	37	chr2	100185376	100185376	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaataatcggcactgcgagGcctacaaggagagaatgata	11	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:100185376G>A	ENST00000409236.2	-	17	3032	c.2920C>T	c.(2920-2922)Cct>Tct	p.P974S	AFF3_ENST00000409579.1_Splice_Site_p.P999S|AFF3_ENST00000317233.4_Splice_Site_p.P974S|AFF3_ENST00000356421.2_Splice_Site_p.P999S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	974					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCACTGCGAGGCCTACAAGGA	0.363																																																	0													158	145	150					2																	100185376		2203	4300	6503	SO:0001630	splice_region_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2919-1C>T	2.37:g.100185376G>A			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P999S	ENST00000409236.2	37	c.2995	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230177	0.58777	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.87	5.87	0.94306	.	0.060252	0.64402	D	0.000002	T	0.73946	0.3652	L	0.54908	1.71	0.58432	D	0.999996	B;D	0.76494	0.382;0.999	B;D	0.70016	0.345;0.967	T	0.64028	-0.6503	10	0.09338	T	0.73	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	974;999	P51826;P51826-2	AFF3_HUMAN;.	S	974;999;999;974;16	ENSP00000317421:P974S;ENSP00000348793:P999S;ENSP00000386834:P999S;ENSP00000387207:P974S;ENSP00000416685:P16S	ENSP00000317421:P974S	P	-	1	0	AFF3	99551808	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.153000	0.58118	2.941000	0.99782	0.655000	0.94253	CCT	AFF3	-	pfam_TF_AF4/FMR2		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285	Missense_Mutation	100185376	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100185376	G	A	100185376	5	1	131	1	0	0	0	0	0	0	1	0	358	1217	42	4	788	4	AFF3	2	100185376	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	277497	100185376	143013997	240	20380										
AFF3	3899	genome.wustl.edu	37	chr2	100209829	100209829	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcgattttgacccagagaGacctgatctcatcactgtcc	9	12	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:100209829G>T	ENST00000409236.2	-	13	2406	c.2294C>A	c.(2293-2295)tCt>tAt	p.S765Y	AFF3_ENST00000409579.1_Missense_Mutation_p.S790Y|AFF3_ENST00000317233.4_Missense_Mutation_p.S765Y|AFF3_ENST00000356421.2_Missense_Mutation_p.S790Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	765					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GACCCAGAGAGACCTGATCTC	0.577																																																	0													70	65	67					2																	100209829		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2294C>A	2.37:g.100209829G>T	ENSP00000387207:p.Ser765Tyr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S790Y	ENST00000409236.2	37	c.2369	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444362	0.83993	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.5	5.5	0.81552	.	0.165435	0.39341	N	0.001391	D	0.82412	0.5031	M	0.78456	2.415	0.53005	D	0.999969	D;B;D	0.69078	0.997;0.283;0.993	D;B;D	0.69479	0.964;0.324;0.912	D	0.83580	0.0117	10	0.59425	D	0.04	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	918;765;790	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Y	765;790;790;765;765;918	ENSP00000317421:S765Y;ENSP00000348793:S790Y;ENSP00000386834:S790Y;ENSP00000387207:S765Y	ENSP00000317421:S765Y	S	-	2	0	AFF3	99576261	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	8.801000	0.91905	2.596000	0.87737	0.561000	0.74099	TCT	AFF3	-	pfam_TF_AF4/FMR2		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285		100209829	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.969	T	T	100209829	G	T	100209829	3	4	131	1	0	0	0	0	1	0	0	0	358	942	33	3	1430	3	AFF3	2	100209829	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	24453	100209829	142989544	241	20381										
MAP4K4	9448	genome.wustl.edu	37	chr2	102501684	102501684	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaaatttctggtgattgctTtgaagagttctgtggaagtc	11	5	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:102501684T>G	ENST00000347699.4	+	26	3121	c.3121T>G	c.(3121-3123)Ttg>Gtg	p.L1041V	MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1081V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L960V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1122V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L840V|MAP4K4_ENST00000413150.2_Missense_Mutation_p.L956V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L844V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1074V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1041	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTGATTGCTTTGAAGAGTTC	0.363																																																	0													75	70	71					2																	102501684		1834	4089	5923	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3121T>G	2.37:g.102501684T>G	ENSP00000314363:p.Leu1041Val		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L1122V	ENST00000347699.4	37	c.3364	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.99|19.99	3.928039|3.928039	0.73327|0.73327	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	.|T;T;T;T;T;T;T;T;T	.|0.04317	.|3.65;3.65;3.65;3.65;3.65;3.65;3.65;3.65;3.65	6.02|6.02	2.42|2.42	0.29668|0.29668	.|Citron-like (3);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.17195|0.17195	0.0413|0.0413	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;P;P;D;P;B;D;D;P	.|0.67145	.|0.992;0.979;0.752;0.843;0.974;0.608;0.425;0.974;0.996;0.918	.|D;D;P;P;D;P;B;D;D;P	.|0.76071	.|0.987;0.982;0.739;0.56;0.969;0.672;0.19;0.969;0.968;0.71	T|T	0.00092|0.00092	-1.2083|-1.2083	5|10	.|0.52906	.|T	.|0.07	.|.	9.454|9.454	0.38743|0.38743	0.0:0.198:0.0:0.802|0.0:0.198:0.0:0.802	.|.	.|1081;1037;840;844;959;1041;1074;960;1013;1122	.|B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.|.;.;.;.;.;M4K4_HUMAN;.;.;.;.	C|V	857|1074;1122;960;844;956;840;1041;972;1081	.|ENSP00000392830:L1074V;ENSP00000313644:L1122V;ENSP00000281111:L960V;ENSP00000303600:L844V;ENSP00000389752:L956V;ENSP00000387370:L840V;ENSP00000314363:L1041V;ENSP00000409720:L972V;ENSP00000343658:L1081V	.|ENSP00000303600:L844V	F|L	+|+	2|1	0|2	MAP4K4|MAP4K4	101868116|101868116	0.802000|0.802000	0.28943|0.28943	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.383000|0.383000	0.20651|0.20651	0.185000|0.185000	0.20105|0.20105	0.528000|0.528000	0.53228|0.53228	TTT|TTG	MAP4K4	-	pfam_Citron,smart_Citron		0.363	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	T	NM_004834		102501684	1	no_errors	ENST00000324219	ensembl	human	known	70_37	missense	SNP	0.996	G	G	102501684	T	G	102501684	3	3	131	1	0	0	0	0	1	0	0	0	9285	1838	64	5	3474	5	MAP4K4	2	102501684	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2291855	102501684	140697689	242	20382										
IL1R1	3554	genome.wustl.edu	37	chr2	102792863	102792863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaaaagcagaagactgattAtcattttagtcagagaaaca	8	5	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:102792863A>C	ENST00000410023.1	+	12	1672	c.1354A>C	c.(1354-1356)Atc>Ctc	p.I452L	IL1R1_ENST00000409929.1_Missense_Mutation_p.I421L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.I452L|IL1R1_ENST00000424272.1_3'UTR|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	452	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAGACTGATTATCATTTTAGT	0.348																																																	0													59	60	60					2																	102792863		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1354A>C	2.37:g.102792863A>C	ENSP00000386380:p.Ile452Leu		Q587I7	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I452L	ENST00000410023.1	37	c.1354	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915246	0.73098	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.08193	3.12;3.12;3.12	5.61	1.98	0.26296	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.269566	0.40818	N	0.001008	T	0.15176	0.0366	M	0.79926	2.475	0.38901	D	0.957321	P;P	0.37158	0.585;0.488	B;B	0.42625	0.383;0.393	T	0.01692	-1.1294	10	0.72032	D	0.01	.	8.5002	0.33152	0.7678:0.0:0.2322:0.0	.	421;452	B8ZZW4;P14778	.;IL1R1_HUMAN	L	421;452;452	ENSP00000386776:I421L;ENSP00000386380:I452L;ENSP00000233946:I452L	ENSP00000233946:I452L	I	+	1	0	IL1R1	102159295	0.465000	0.25815	0.402000	0.26371	0.919000	0.55068	1.134000	0.31442	0.104000	0.17725	0.460000	0.39030	ATC	IL1R1	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.348	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	A			102792863	1	no_errors	ENST00000233946	ensembl	human	known	70_37	missense	SNP	0.726	C	C	102792863	A	C	102792863	3	2	131	1	0	0	0	0	1	0	0	0	7678	449	16	5	1392	5	IL1R1	2	102792863	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	291179	102792863	140406510	243	20383										
IL1RL1	9173	genome.wustl.edu	37	chr2	102956678	102956678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagaaaaaaattccaaaatTtattgtcctaccattgacct	3	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:102956678T>G	ENST00000233954.1	+	4	664	c.393T>G	c.(391-393)atT>atG	p.I131M	IL1RL1_ENST00000404917.2_Missense_Mutation_p.I14M|IL1RL1_ENST00000311734.2_Missense_Mutation_p.I131M|IL1RL1_ENST00000393393.3_Missense_Mutation_p.I131M|IL1RL1_ENST00000409584.1_Missense_Mutation_p.I131M	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	131	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTCCAAAATTTATTGTCCTA	0.318																																																	0													73	72	72					2																	102956678		2203	4300	6503	SO:0001583	missense	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.393T>G	2.37:g.102956678T>G	ENSP00000233954:p.Ile131Met		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I131M	ENST00000233954.1	37	c.393	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022935	0.54683	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.54	-1.73	0.08081	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123056	0.56097	D	0.000035	D	0.85177	0.5637	M	0.77820	2.39	0.30340	N	0.78579	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78700	-0.2102	10	0.56958	D	0.05	.	5.6613	0.17670	0.264:0.2358:0.0:0.5002	.	14;131;131	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	M	131;131;14;131;131	ENSP00000233954:I131M;ENSP00000377052:I131M;ENSP00000384822:I14M;ENSP00000310371:I131M;ENSP00000386618:I131M	ENSP00000233954:I131M	I	+	3	3	IL1RL1	102323110	0.322000	0.24634	0.020000	0.16555	0.149000	0.21700	0.572000	0.23684	0.033000	0.15463	-1.293000	0.01348	ATT	IL1RL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_IL1_rcpt_I/II		0.318	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	T	NM_016232		102956678	1	no_errors	ENST00000233954	ensembl	human	known	70_37	missense	SNP	0.034	G	G	102956678	T	G	102956678	3	3	131	1	0	0	0	0	1	0	0	0	7683	1829	64	5	403	5	IL1RL1	2	102956678	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	163815	102956678	140242695	244	20384										
SLC9A4	389015	genome.wustl.edu	37	chr2	103090436	103090436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgcaaattccttatgaggTcactctctggatacttctag	8	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:103090436T>G	ENST00000295269.4	+	1	675	c.218T>G	c.(217-219)gTc>gGc	p.V73G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	73					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTATGAGGTCACTCTCTGG	0.398																																																	0													116	112	113					2																	103090436		2203	4300	6503	SO:0001583	missense	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.218T>G	2.37:g.103090436T>G	ENSP00000295269:p.Val73Gly		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.V73G	ENST00000295269.4	37	c.218	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732234	0.89482	.	.	ENSG00000180251	ENST00000295269	T	0.71103	-0.54	6.04	6.04	0.98038	Cation/H+ exchanger (1);	0.173853	0.51477	D	0.000099	T	0.75939	0.3918	L	0.54323	1.7	0.80722	D	1	P	0.51791	0.948	P	0.51297	0.665	T	0.78612	-0.2136	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	73	Q6AI14	SL9A4_HUMAN	G	73	ENSP00000295269:V73G	ENSP00000295269:V73G	V	+	2	0	SLC9A4	102456868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.317000	0.78254	0.460000	0.39030	GTC	SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.398	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	T	NM_001011552.3		103090436	1	no_errors	ENST00000295269	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103090436	T	G	103090436	3	3	131	1	0	0	0	0	1	0	0	0	14746	1667	58	5	220	5	SLC9A4	2	103090436	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	133758	103090436	140108937	245	20385										
RGPD4	285190	genome.wustl.edu	37	chr2	108478125	108478125	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagaagaatgcaaaaattatCtgagaaagaccaggggctac	10	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:108478125C>A	ENST00000408999.3	+	15	2211	c.2134C>A	c.(2134-2136)Ctg>Atg	p.L712M	RGPD4_ENST00000354986.4_Missense_Mutation_p.L712M	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	712					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAAAAATTATCTGAGAAAGAC	0.353																																																	0													50	41	44					2																	108478125		692	1575	2267	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2134C>A	2.37:g.108478125C>A	ENSP00000386810:p.Leu712Met		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L712M	ENST00000408999.3	37	c.2134	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	8.408	0.843565	0.16963	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.22539	1.95;1.95	2.6	1.02	0.19986	.	.	.	.	.	T	0.38480	0.1042	M	0.64997	1.995	0.25039	N	0.991219	D	0.64830	0.994	D	0.77557	0.99	T	0.10917	-1.0609	9	0.72032	D	0.01	-4.0444	7.5159	0.27600	0.0:0.7288:0.0:0.2712	.	712	Q7Z3J3	RGPD4_HUMAN	M	712;712;470	ENSP00000347081:L712M;ENSP00000386810:L712M	ENSP00000347081:L712M	L	+	1	2	RGPD4	107844557	0.568000	0.26635	0.998000	0.56505	0.617000	0.37484	0.637000	0.24659	0.308000	0.22923	0.152000	0.16155	CTG	RGPD4	-	NULL		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108478125	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.997	A	A	108478125	C	A	108478125	3	1	131	1	0	0	0	0	1	0	0	0	13318	912	32	3	2192	3	RGPD4	2	108478125	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5387689	108478125	134721248	246	20386										
RANBP2	5903	genome.wustl.edu	37	chr2	109345596	109345596	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattttttttagaagtcaatGaaaggattctattttgcaaa	6	3	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:109345596G>T	ENST00000283195.6	+	2	207	c.81G>T	c.(79-81)atG>atT	p.M27I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	27					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAGTCAATGAAAGGATTCT	0.234																																																	0													24	31	28					2																	109345596		1280	2228	3508	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.81G>T	2.37:g.109345596G>T	ENSP00000283195:p.Met27Ile		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.M27I	ENST00000283195.6	37	c.81	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	g	12.38	1.919532	0.33908	.	.	ENSG00000153201	ENST00000409491;ENST00000283195;ENST00000456637	T	0.26957	1.7	4.26	3.39	0.38822	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.22166	0.0534	L	0.40543	1.245	0.21822	N	0.999529	B	0.20261	0.043	B	0.16722	0.016	T	0.15037	-1.0451	9	0.33141	T	0.24	-1.3438	12.0511	0.53507	0.0855:0.0:0.9145:0.0	.	27	P49792	RBP2_HUMAN	I	27;27;1	ENSP00000283195:M27I	ENSP00000283195:M27I	M	+	3	0	RANBP2	108712028	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.757000	0.47557	1.028000	0.39785	-0.366000	0.07423	ATG	RANBP2	-	pfscan_TPR-contain_dom		0.234	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109345596	1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109345596	G	T	109345596	3	4	131	1	0	0	0	0	1	0	0	0	13058	1290	45	3	87	3	RANBP2	2	109345596	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	867471	109345596	133853777	247	20387										
EDAR	10913	genome.wustl.edu	37	chr2	109529190	109529190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcccgaggtgccagggaagTtggcagaagctcctgaagtg	16	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:109529190T>G	ENST00000258443.2	-	6	903	c.473A>C	c.(472-474)aAc>aCc	p.N158T	EDAR_ENST00000409271.1_Missense_Mutation_p.N158T|EDAR_ENST00000376651.1_Missense_Mutation_p.N158T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	158					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCAGGGAAGTTGGCAGAAGC	0.567																																																	0													51	48	49					2																	109529190		2203	4299	6502	SO:0001583	missense	10913			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.473A>C	2.37:g.109529190T>G	ENSP00000258443:p.Asn158Thr		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like	p.N158T	ENST00000258443.2	37	c.473	CCDS2081.1	2	.	.	.	.	.	.	.	.	.	.	T	6.518	0.463812	0.12402	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90004	-2.6;-2.59;-2.6	5.26	-0.204	0.13200	.	0.508271	0.23007	N	0.053011	T	0.76407	0.3983	L	0.36672	1.1	0.19775	N	0.999951	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.55995	-0.8052	10	0.14252	T	0.57	-12.9535	1.8127	0.03094	0.1757:0.4133:0.1556:0.2554	.	158;158	E9PC98;Q9UNE0	.;EDAR_HUMAN	T	158	ENSP00000386371:N158T;ENSP00000258443:N158T;ENSP00000365839:N158T	ENSP00000258443:N158T	N	-	2	0	EDAR	108895622	1.000000	0.71417	0.009000	0.14445	0.009000	0.06853	1.445000	0.35079	-0.006000	0.14370	-0.290000	0.09829	AAC	EDAR	-	NULL		0.567	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1	T			109529190	-1	no_errors	ENST00000376651	ensembl	human	known	70_37	missense	SNP	0.524	G	G	109529190	T	G	109529190	3	3	131	1	0	0	0	0	1	0	0	0	4915	1725	60	5	901	5	EDAR	2	109529190	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	183594	109529190	133670183	248	20388										
ZC3H8	84524	genome.wustl.edu	37	chr2	113012538	113012538	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccgggttggggggttttgaGaaaagattctcaaaatccat	13	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113012538G>T	ENST00000409573.2	-	1	150	c.21C>A	c.(19-21)ttC>ttA	p.F7L	ZC3H8_ENST00000272570.5_Missense_Mutation_p.F7L			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	7					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GGGGTTTTGAGAAAAGATTCT	0.552																																																	0													34	40	38					2																	113012538		1837	4085	5922	SO:0001583	missense	84524			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.21C>A	2.37:g.113012538G>T	ENSP00000386488:p.Phe7Leu		Q9BZ75	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.F7L	ENST00000409573.2	37	c.21	CCDS46392.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069230	0.76301	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.21543	2.0;2.0	3.39	1.53	0.23141	.	0.534895	0.18216	N	0.148033	T	0.17746	0.0426	L	0.57536	1.79	0.25993	N	0.982222	B	0.26876	0.162	B	0.20955	0.032	T	0.18903	-1.0322	10	0.87932	D	0	-2.469	5.1405	0.14955	0.2835:0.0:0.7165:0.0	.	7	Q8N5P1	ZC3H8_HUMAN	L	7	ENSP00000386488:F7L;ENSP00000272570:F7L	ENSP00000272570:F7L	F	-	3	2	ZC3H8	112729009	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	0.544000	0.23253	0.413000	0.25759	-0.150000	0.13652	TTC	ZC3H8	-	NULL		0.552	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	HGNC	protein_coding	OTTHUMT00000330521.3	G	NM_032494		113012538	-1	no_errors	ENST00000272570	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113012538	G	T	113012538	3	4	131	1	0	0	0	0	1	0	0	0	17604	933	33	3	886	3	ZC3H8	2	113012538	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3483348	113012538	130186835	249	20389										
ZC3H6	376940	genome.wustl.edu	37	chr2	113057460	113057460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagaagatggtgaaatagacGatgcaggatttgaagaaata	12	2	0	6	rs545433319		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113057460G>A	ENST00000409871.1	+	2	468	c.67G>A	c.(67-69)Gat>Aat	p.D23N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D23N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	23							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						tgaaatagacgatgcaggatt	0.284													G|||	1	0.000199681	8e-04	0	5008	,	,		14533	0		0	False		,,,				2504	0																0													56	53	54					2																	113057460		935	2074	3009	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.67G>A	2.37:g.113057460G>A	ENSP00000386764:p.Asp23Asn		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D23N	ENST00000409871.1	37	c.67	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539131	0.65085	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.24350	1.86;1.86	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.70275	2.135	0.49213	D	0.999764	D	0.89917	1.0	D	0.79108	0.992	T	0.51284	-0.8725	10	0.87932	D	0	-15.8914	13.8479	0.63479	0.0:0.0:1.0:0.0	.	23	P61129	ZC3H6_HUMAN	N	23	ENSP00000386764:D23N;ENSP00000340298:D23N	ENSP00000340298:D23N	D	+	1	0	ZC3H6	112773931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.638000	0.61353	2.551000	0.86045	0.650000	0.86243	GAT	ZC3H6	-	NULL		0.284	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113057460	1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113057460	G	A	113057460	3	1	131	1	0	0	0	0	1	0	0	0	17601	1058	37	1	73	1	ZC3H6	2	113057460	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	44922	113057460	130141913	250	20390			1	97		3	3	83	G		1.493923e-05
ZC3H6	376940	genome.wustl.edu	37	chr2	113057490	113057490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaagaaatacaagaaaaaGaagcaaaagagaatgaaaag	9	2	0	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113057490G>T	ENST00000409871.1	+	2	498	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.E33*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	33							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						acaagaaaaagaagcaaaaga	0.303																																																	0													63	64	64					2																	113057490		940	2073	3013	SO:0001587	stop_gained	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.97G>T	2.37:g.113057490G>T	ENSP00000386764:p.Glu33*		A9JR71|Q6ZW96	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E33*	ENST00000409871.1	37	c.97	CCDS46393.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.484312|7.484312	0.98312|0.98312	.|.	.|.	ENSG00000188177|ENSG00000188177	ENST00000409871;ENST00000343936|ENST00000542974	.|.	.|.	.|.	4.69|4.69	3.78|3.78	0.43462|0.43462	.|.	0.894495|.	0.09673|.	N|.	0.770837|.	.|T	.|0.44008	.|0.1273	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.19935	.|0.04	.|B	.|0.14578	.|0.011	.|T	.|0.55921	.|-0.8064	.|6	0.59425|0.87932	D|D	0.04|0	-20.7549|-20.7549	11.2669|11.2669	0.49116|0.49116	0.0:0.1858:0.8142:0.0|0.0:0.1858:0.8142:0.0	.|.	.|10	.|Q6ZN12	.|.	X|N	33|10	.|.	ENSP00000340298:E33X|ENSP00000439726:K10N	E|K	+|+	1|3	0|2	ZC3H6|ZC3H6	112773961|112773961	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.776000|0.776000	0.43924|0.43924	1.066000|1.066000	0.30604|0.30604	1.254000|1.254000	0.44035|0.44035	0.650000|0.650000	0.86243|0.86243	GAA|AAG	ZC3H6	-	NULL		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113057490	1	no_errors	ENST00000343936	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	113057490	G	T	113057490	4	4	131	1	0	0	0	0	0	1	0	0	17601	943	33	3	103	3	ZC3H6	2	113057490	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	30	113057490	130141883	251	20391			1	97		3	3	83	G		1.493923e-05
ZC3H6	376940	genome.wustl.edu	37	chr2	113057542	113057542	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaagcctacagaaaatcaaGaaaaaaacataagaaagaga	7	5	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113057542G>T	ENST00000409871.1	+	2	550	c.149G>T	c.(148-150)aGa>aTa	p.R50I	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R50I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	50							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						agaaaatcaagaaaaaaacat	0.303																																																	0													64	67	66					2																	113057542		928	2068	2996	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.149G>T	2.37:g.113057542G>T	ENSP00000386764:p.Arg50Ile		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R50I	ENST00000409871.1	37	c.149	CCDS46393.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.213985|3.213985	0.58452|0.58452	.|.	.|.	ENSG00000188177|ENSG00000188177	ENST00000542974|ENST00000409871;ENST00000343936	.|T;T	.|0.20738	.|2.05;2.05	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.581465	.|0.17417	.|N	.|0.174993	.|T	.|0.40448	.|0.1117	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.76071	.|0.987	.|T	.|0.14671	.|-1.0464	.|10	0.11485|0.87932	T|D	0.65|0	-20.6842|-20.6842	13.7501|13.7501	0.62901|0.62901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50	.|P61129	.|ZC3H6_HUMAN	X|I	28|50	.|ENSP00000386764:R50I;ENSP00000340298:R50I	ENSP00000439726:E28X|ENSP00000340298:R50I	E|R	+|+	1|2	0|0	ZC3H6|ZC3H6	112774013|112774013	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	4.638000|4.638000	0.61353|0.61353	2.521000|2.521000	0.84997|0.84997	0.557000|0.557000	0.71058|0.71058	GAA|AGA	ZC3H6	-	NULL		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113057542	1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113057542	G	T	113057542	3	4	131	1	0	0	0	0	1	0	0	0	17601	942	33	3	155	3	ZC3H6	2	113057542	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	52	113057542	130141831	252	20392			1	97		3	3	83	G		1.493923e-05
SCTR	6344	genome.wustl.edu	37	chr2	120209612	120209612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagaggatcacaggaccacGaatgatccaccagatggatg	13	9	1	3	rs144810736	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:120209612G>A	ENST00000019103.5	-	9	1162	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	299					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ACAGGACCACGAATGATCCAC	0.592													G|||	2	0.000399361	0	0.0029	5008	,	,		21577	0		0	False		,,,				2504	0																0								G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	146	104	118		895	5.3	1	2	dbSNP_134	118	33,8567	21.6+/-65.8	0,33,4267	yes	missense	SCTR	NM_002980.2	180	0,37,6466	AA,AG,GG		0.3837,0.0908,0.2845	probably-damaging	299/441	120209612	37,12969	2203	4300	6503	SO:0001583	missense	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.895C>T	2.37:g.120209612G>A	ENSP00000019103:p.Arg299Cys		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1	p.R299C	ENST00000019103.5	37	c.895	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168832	0.78339	9.08E-4	0.003837	ENSG00000080293	ENST00000019103	T	0.36520	1.25	5.33	5.33	0.75918	GPCR, family 2-like (1);	0.000000	0.47852	D	0.000206	T	0.64472	0.2601	M	0.86502	2.82	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.69661	-0.5085	10	0.87932	D	0	.	13.6707	0.62422	0.0:0.0:0.8356:0.1644	.	299	P47872	SCTR_HUMAN	C	299	ENSP00000019103:R299C	ENSP00000019103:R299C	R	-	1	0	SCTR	119926082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.818000	0.55678	2.775000	0.95449	0.655000	0.94253	CGT	SCTR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.592	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	HGNC	protein_coding	OTTHUMT00000254198.2	G			120209612	-1	no_errors	ENST00000019103	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120209612	G	A	120209612	3	1	131	1	0	0	0	0	1	0	0	0	13973	1058	37	1	447	1	SCTR	2	120209612	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7152070	120209612	122989761	253	20393										
GLI2	2736	genome.wustl.edu	37	chr2	121708959	121708959	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catggagcactacctccgttCtgtgcacagcagccccacgc	9	17	1	0	rs369649251		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:121708959C>A	ENST00000452319.1	+	4	455	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	GLI2_ENST00000361492.4_Missense_Mutation_p.S132Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TACCTCCGTTCTGTGCACAGC	0.672																																																	0								C	TYR/SER	0,4406		0,0,2203	55	56	55		395	5.2	0.1	2		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	144	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	132/1587	121708959	1,13005	2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.395C>A	2.37:g.121708959C>A	ENSP00000390436:p.Ser132Tyr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S132Y	ENST00000452319.1	37	c.395	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.061895	0.93846	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.56611	0.45;0.45	5.18	5.18	0.71444	.	0.057122	0.64402	D	0.000001	T	0.68293	0.2985	M	0.78801	2.425	0.80722	D	1	D;P;P	0.53151	0.958;0.924;0.623	P;P;B	0.53360	0.724;0.642;0.364	T	0.73385	-0.3999	10	0.87932	D	0	.	18.8922	0.92408	0.0:1.0:0.0:0.0	.	132;132;132	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	Y	132	ENSP00000390436:S132Y;ENSP00000354586:S132Y	ENSP00000354586:S132Y	S	+	2	0	GLI2	121425429	1.000000	0.71417	0.121000	0.21740	0.987000	0.75469	5.846000	0.69444	2.704000	0.92352	0.555000	0.69702	TCT	GLI2	-	NULL		0.672	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121708959	1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	0.999	A	A	121708959	C	A	121708959	3	1	131	1	0	0	0	0	1	0	0	0	6457	913	32	3	405	3	GLI2	2	121708959	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1499347	121708959	121490414	254	20394										
GLI2	2736	genome.wustl.edu	37	chr2	121740398	121740398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagcacgagggctgcaacaAagccttctccaacgcctcgg	11	14	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:121740398A>C	ENST00000452319.1	+	11	1685	c.1625A>C	c.(1624-1626)aAa>aCa	p.K542T	GLI2_ENST00000361492.4_Missense_Mutation_p.K542T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.K214T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGCTGCAACAAAGCCTTCTCC	0.637																																																	0													88	76	80					2																	121740398		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1625A>C	2.37:g.121740398A>C	ENSP00000390436:p.Lys542Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K542T	ENST00000452319.1	37	c.1625	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770084	0.90108	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.27890	1.64;1.64;1.64	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.989	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.948	T	0.65969	-0.6039	10	0.87932	D	0	.	14.4044	0.67071	1.0:0.0:0.0:0.0	.	542;525;197;197;214	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	T	542;542;214	ENSP00000390436:K542T;ENSP00000354586:K542T;ENSP00000312694:K214T	ENSP00000312694:K214T	K	+	2	0	GLI2	121456868	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.075000	0.94004	2.050000	0.60909	0.397000	0.26171	AAA	GLI2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	A	NM_005270		121740398	1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121740398	A	C	121740398	3	2	131	1	0	0	0	0	1	0	0	0	6457	14	1	5	1663	5	GLI2	2	121740398	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	31439	121740398	121458975	255	20395										
CNTNAP5	129684	genome.wustl.edu	37	chr2	124999880	124999880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtggccacgcagggaagataCggaagctctgactgggtgac	16	9	1	3	rs369801109		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:124999880C>T	ENST00000431078.1	+	3	655	c.291C>T	c.(289-291)taC>taT	p.Y97Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	97	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGGAAGATACGGAAGCTCTG	0.527																																																	0								C		0,4110		0,0,2055	75	81	79		291	-3.4	1	2		79	2,8404		0,2,4201	no	coding-synonymous	CNTNAP5	NM_130773.2		0,2,6256	TT,TC,CC		0.0238,0.0,0.016		97/1307	124999880	2,12514	2055	4203	6258	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.291C>T	2.37:g.124999880C>T			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Y97	ENST00000431078.1	37	c.291	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	C			124999880	1	no_errors	ENST00000431078	ensembl	human	known	70_37	silent	SNP	0.874	T	T	124999880	C	T	124999880	2	4	131	1	0	0	0	0	0	0	0	1	3655	547	19	2		2	CNTNAP5	2	124999880	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3259482	124999880	118199493	256	20396										
IWS1	55677	genome.wustl.edu	37	chr2	128263003	128263003	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctggagctcctcaatctcaGaatcactggcgggatgcttc	10	12	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:128263003G>T	ENST00000295321.4	-	3	735	c.476C>A	c.(475-477)tCt>tAt	p.S159Y	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S166Y|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	159	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCAATCTCAGAATCACTGGC	0.463																																																	0													91	97	95					2																	128263003		2203	4300	6503	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.476C>A	2.37:g.128263003G>T	ENSP00000295321:p.Ser159Tyr		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.S159Y	ENST00000295321.4	37	c.476	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339395	0.60963	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.35048	1.37;1.33	5.4	5.4	0.78164	.	0.205896	0.33854	N	0.004495	T	0.59810	0.2221	M	0.64997	1.995	0.38955	D	0.958425	D	0.76494	0.999	D	0.73380	0.98	T	0.63152	-0.6701	10	0.72032	D	0.01	-3.9751	19.5254	0.95203	0.0:0.0:1.0:0.0	.	159	Q96ST2	IWS1_HUMAN	Y	159;112;166;164	ENSP00000295321:S159Y;ENSP00000399245:S166Y	ENSP00000295321:S159Y	S	-	2	0	IWS1	127979473	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.716000	0.68437	2.676000	0.91093	0.591000	0.81541	TCT	IWS1	-	NULL		0.463	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	G	NM_017969		128263003	-1	no_errors	ENST00000295321	ensembl	human	known	70_37	missense	SNP	0.962	T	T	128263003	G	T	128263003	3	4	131	1	0	0	0	0	1	0	0	0	7951	942	33	3	2031	3	IWS1	2	128263003	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3263123	128263003	114936370	257	20397										
WDR33	55339	genome.wustl.edu	37	chr2	128471326	128471326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggaggcccagggccccctcGcctccacttctcttcttgcg	10	19	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:128471326G>A	ENST00000322313.4	-	18	3297	c.3139C>T	c.(3139-3141)Cga>Tga	p.R1047*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1047					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGCCCCCTCGCCTCCACTTC	0.647																																																	0													78	81	80					2																	128471326		2203	4300	6503	SO:0001587	stop_gained	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3139C>T	2.37:g.128471326G>A	ENSP00000325377:p.Arg1047*		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1047*	ENST00000322313.4	37	c.3139	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	43	9.980487	0.99309	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0131	20.0726	0.97729	0.0:0.0:1.0:0.0	.	.	.	.	X	1047	.	ENSP00000325377:R1047X	R	-	1	2	WDR33	128187796	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.513000	0.67037	2.738000	0.93877	0.655000	0.94253	CGA	WDR33	-	NULL		0.647	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	G	NM_018383		128471326	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	128471326	G	A	128471326	4	1	131	1	0	0	0	0	0	1	0	0	17318	1095	38	2	891	2	WDR33	2	128471326	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	208323	128471326	114728047	258	20398										
MGAT5	4249	genome.wustl.edu	37	chr2	135160633	135160633	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttatggctccagcacaaaGaatattcccagttacgtgaa	8	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:135160633G>T	ENST00000409645.1	+	12	1707	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	MGAT5_ENST00000281923.2_Missense_Mutation_p.K485N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	485					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCAGCACAAAGAATATTCCCA	0.418																																																	0													98	97	97					2																	135160633		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1455G>T	2.37:g.135160633G>T	ENSP00000386377:p.Lys485Asn		D3DP70	Missense_Mutation	SNP	NULL	p.K485N	ENST00000409645.1	37	c.1455	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841280	0.32513	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.69	3.86	0.44501	.	0.267685	0.41823	D	0.000811	T	0.29389	0.0732	L	0.29908	0.895	0.31590	N	0.65403	B	0.02656	0.0	B	0.01281	0.0	T	0.18023	-1.0350	9	0.22706	T	0.39	-21.2827	4.7921	0.13254	0.0788:0.188:0.5344:0.1988	.	485	Q09328	MGT5A_HUMAN	N	485	.	ENSP00000281923:K485N	K	+	3	2	MGAT5	134877103	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.690000	0.25451	1.407000	0.46875	0.650000	0.86243	AAG	MGAT5	-	NULL		0.418	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	G	NM_002410		135160633	1	no_errors	ENST00000281923	ensembl	human	known	70_37	missense	SNP	0.996	T	T	135160633	G	T	135160633	3	4	131	1	0	0	0	0	1	0	0	0	9571	933	33	3	1497	3	MGAT5	2	135160633	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	6689307	135160633	108038740	259	20399										
YSK4	80122	genome.wustl.edu	37	chr2	135743751	135743751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaagtgttttagagtgatcTgaaacactatcaaactctag	8	6	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:135743751T>C	ENST00000375845.3	-	7	2721	c.2691A>G	c.(2689-2691)tcA>tcG	p.S897S	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S784S|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.S914S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	897							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TAGAGTGATCTGAAACACTAT	0.333																																																	0													74	76	75					2																	135743751		2203	4300	6503	SO:0001819	synonymous_variant	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2691A>G	2.37:g.135743751T>C			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S897	ENST00000375845.3	37	c.2691	CCDS2176.2	2																																																																																			MAP3K19	-	NULL		0.333	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	T	NM_025052		135743751	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	silent	SNP	0.000	C	C	135743751	T	C	135743751	2	2	131	1	0	0	0	0	0	0	0	1	17526	1567	55	5		5	YSK4	2	135743751	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	583118	135743751	107455622	260	20400										
YSK4	80122	genome.wustl.edu	37	chr2	135756394	135756394	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttcagttctaaacaagatCttggtagcaaaaagcccaag	8	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:135756394C>A	ENST00000375845.3	-	5	518	c.488G>T	c.(487-489)aGa>aTa	p.R163I	MAP3K19_ENST00000392918.3_Missense_Mutation_p.R163I|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R163I|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R163I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R180I	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	163							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TAAACAAGATCTTGGTAGCAA	0.423																																																	0													78	81	80					2																	135756394		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.488G>T	2.37:g.135756394C>A	ENSP00000365005:p.Arg163Ile		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.R163I	ENST00000375845.3	37	c.488	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485890	0.44147	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.80909	-1.43;-0.78;-0.73;-0.63;0.9	5.26	1.01	0.19927	.	0.447056	0.19024	N	0.124745	T	0.82061	0.4955	M	0.71581	2.175	0.80722	D	1	P;D;P;D;P;D	0.63880	0.736;0.977;0.925;0.96;0.925;0.993	B;P;P;P;P;P	0.58873	0.221;0.847;0.571;0.731;0.571;0.844	T	0.75542	-0.3281	10	0.26408	T	0.33	.	3.9437	0.09339	0.0:0.4912:0.1743:0.3345	.	163;163;163;180;163;163	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	I	163;163;163;163;180	ENSP00000365005:R163I;ENSP00000365004:R163I;ENSP00000376650:R163I;ENSP00000376649:R163I;ENSP00000376647:R180I	ENSP00000365004:R163I	R	-	2	0	YSK4	135472864	0.458000	0.25760	0.371000	0.25978	0.269000	0.26545	-0.072000	0.11486	-0.005000	0.14395	0.655000	0.94253	AGA	MAP3K19	-	NULL		0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	C	NM_025052		135756394	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.835	A	A	135756394	C	A	135756394	3	1	131	1	0	0	0	0	1	0	0	0	17526	913	32	3	3522	3	YSK4	2	135756394	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	12643	135756394	107442979	261	20401										
R3HDM1	23518	genome.wustl.edu	37	chr2	136389450	136389450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtctccacgtaaaaaattcCccccaatgacatcttaccat	4	14	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:136389450C>T	ENST00000264160.4	+	9	947	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	R3HDM1_ENST00000410054.1_Missense_Mutation_p.P137S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P149S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P193S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P149S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	193	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TAAAAAATTCCCCCCAATGAC	0.393																																																	0													127	125	126					2																	136389450		2203	4300	6503	SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.577C>T	2.37:g.136389450C>T	ENSP00000264160:p.Pro193Ser		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P193S	ENST00000264160.4	37	c.577	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.219120	0.95104	.	.	ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.76	5.76	0.90799	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.998	T	0.80500	-0.1355	10	0.72032	D	0.01	-6.3431	19.9618	0.97254	0.0:1.0:0.0:0.0	.	149;193;137;193	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	S	149;149;193;149;137;193	ENSP00000386457:P149S;ENSP00000264160:P193S;ENSP00000331396:P149S;ENSP00000386877:P137S;ENSP00000387010:P193S	ENSP00000264160:P193S	P	+	1	0	R3HDM1	136105920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.722000	0.93159	0.650000	0.86243	CCC	R3HDM1	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.393	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	C	NM_015361		136389450	1	no_errors	ENST00000264160	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136389450	C	T	136389450	3	4	131	1	0	0	0	0	1	0	0	0	12917	623	22	4	603	4	R3HDM1	2	136389450	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	633056	136389450	106809923	262	20402										
UBXN4	23190	genome.wustl.edu	37	chr2	136528183	136528183	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaggagaaaaactggaaaaGaaatgttggattataaaaga	11	1	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:136528183G>T	ENST00000272638.9	+	8	1011	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	234					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACTGGAAAAGAAATGTTGGA	0.328																																																	0													68	63	64					2																	136528183		1801	4066	5867	SO:0001587	stop_gained	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.700G>T	2.37:g.136528183G>T	ENSP00000272638:p.Glu234*		A8K9W4|Q4ZG56|Q8IYM5	Nonsense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.E234*	ENST00000272638.9	37	c.700	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.926531	0.97940	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.54	4.67	0.58626	.	0.187278	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.6656	0.68904	0.07:0.0:0.93:0.0	.	.	.	.	X	234;216	.	ENSP00000272638:E234X	E	+	1	0	UBXN4	136244653	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.001000	0.57046	1.353000	0.45828	-0.203000	0.12734	GAA	UBXN4	-	NULL		0.328	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	G	NM_014607		136528183	1	no_errors	ENST00000272638	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	136528183	G	T	136528183	4	4	131	1	0	0	0	0	0	1	0	0	16947	943	33	3	730	3	UBXN4	2	136528183	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	138733	136528183	106671190	263	20403										
LRP1B	53353	genome.wustl.edu	37	chr2	141625357	141625357	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcatgacctcggatgatttCtatcatgtttgttccatcat	6	9	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:141625357C>A	ENST00000389484.3	-	27	5352	c.4381G>T	c.(4381-4383)Gaa>Taa	p.E1461*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1461					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGATGATTTCTATCATGTTT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													104	107	106					2																	141625357		2203	4300	6503	SO:0001587	stop_gained	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4381G>T	2.37:g.141625357C>A	ENSP00000374135:p.Glu1461*		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1461*	ENST00000389484.3	37	c.4381	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	51	17.898474	0.99895	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.2069	0.93734	0.0:1.0:0.0:0.0	.	.	.	.	X	1461;1399;606	.	ENSP00000374135:E1461X	E	-	1	0	LRP1B	141341827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.723000	0.84788	2.547000	0.85894	0.655000	0.94253	GAA	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141625357	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	141625357	C	A	141625357	4	1	131	1	0	0	0	0	0	1	0	0	8978	922	32	3	9678	3	LRP1B	2	141625357	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5097174	141625357	101574016	264	20404										
ZEB2	9839	genome.wustl.edu	37	chr2	145147236	145147236	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccgtagccatcctcgccttCtttctcgtgctccttctcgc	6	19	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:145147236C>A	ENST00000558170.2	-	10	4611	c.3427G>T	c.(3427-3429)Gaa>Taa	p.E1143*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1143*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1119*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1143*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1143	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCTCGCCTTCTTTCTCGTGC	0.557																																					Melanoma(33;1235 1264 5755 16332)												0													203	172	183					2																	145147236		2203	4300	6503	SO:0001587	stop_gained	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3427G>T	2.37:g.145147236C>A	ENSP00000454157:p.Glu1143*		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1143*	ENST00000558170.2	37	c.3427	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.012109	0.99317	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.8934	19.7945	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	1119;1143;1143	.	ENSP00000302501:E1143X	E	-	1	0	ZEB2	144863706	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.880000	0.69698	2.746000	0.94184	0.591000	0.81541	GAA	ZEB2	-	NULL		0.557	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147236	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	145147236	C	A	145147236	4	1	131	1	0	0	0	0	0	1	0	0	17654	922	32	3	221	3	ZEB2	2	145147236	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3521879	145147236	98052137	265	20405										
ACVR2A	92	genome.wustl.edu	37	chr2	148654009	148654009	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattgttttgctacctggaaGaatatttctggttccattga	8	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:148654009G>T	ENST00000241416.7	+	2	831	c.195G>T	c.(193-195)aaG>aaT	p.K65N	ACVR2A_ENST00000404590.1_Missense_Mutation_p.K65N|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_5'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	65					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTACCTGGAAGAATATTTCTG	0.368																																																	0													165	162	163					2																	148654009		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.195G>T	2.37:g.148654009G>T	ENSP00000241416:p.Lys65Asn		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.K65N	ENST00000241416.7	37	c.195	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816974	0.50633	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.97710	-4.5;-4.5	5.58	3.37	0.38596	TGF-beta receptor/activin receptor, type I/II (1);	0.049541	0.85682	D	0.000000	D	0.93644	0.7970	L	0.28608	0.87	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	D	0.89757	0.3944	10	0.12430	T	0.62	.	12.3789	0.55295	0.2156:0.0:0.7844:0.0	.	65	P27037	AVR2A_HUMAN	N	65	ENSP00000241416:K65N;ENSP00000384338:K65N	ENSP00000241416:K65N	K	+	3	2	ACVR2A	148370479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.859000	0.39418	1.296000	0.44742	0.655000	0.94253	AAG	ACVR2A	-	pfam_Activin_rcpt		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148654009	1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148654009	G	T	148654009	3	4	131	1	0	0	0	0	1	0	0	0	223	933	33	3	201	3	ACVR2A	2	148654009	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3506773	148654009	94545364	266	20406										
ACVR2A	92	genome.wustl.edu	37	chr2	148674879	148674879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtcatggcaaaatgaatacGaagtctacagtttgcctgga	10	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:148674879G>A	ENST00000241416.7	+	6	1336	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ACVR2A_ENST00000404590.1_Missense_Mutation_p.E234K|ACVR2A_ENST00000535787.1_Missense_Mutation_p.E126K	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAATGAATACGAAGTCTACAG	0.383																																																	0													94	79	84					2																	148674879		2202	4300	6502	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.700G>A	2.37:g.148674879G>A	ENSP00000241416:p.Glu234Lys		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.E234K	ENST00000241416.7	37	c.700	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.698260	0.96802	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.84873	-1.91;-1.91;-1.91	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044155	0.85682	D	0.000000	D	0.90515	0.7028	M	0.84948	2.725	0.80722	D	1	D	0.56035	0.974	P	0.49421	0.61	D	0.91862	0.5500	10	0.87932	D	0	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	234	P27037	AVR2A_HUMAN	K	234;126;234	ENSP00000241416:E234K;ENSP00000439988:E126K;ENSP00000384338:E234K	ENSP00000241416:E234K	E	+	1	0	ACVR2A	148391349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.841000	0.99482	2.702000	0.92279	0.655000	0.94253	GAA	ACVR2A	-	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		0.383	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148674879	1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148674879	G	A	148674879	3	1	131	1	0	0	0	0	1	0	0	0	223	1059	37	1	722	1	ACVR2A	2	148674879	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	20870	148674879	94524494	267	20407										
MBD5	55777	genome.wustl.edu	37	chr2	149226300	149226300	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttcatggagctcccaattCtagtcctattcacctgaata	5	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:149226300C>A	ENST00000407073.1	+	9	1785	c.788C>A	c.(787-789)tCt>tAt	p.S263Y	MBD5_ENST00000404807.1_Missense_Mutation_p.S263Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	263					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTCCCAATTCTAGTCCTATT	0.443																																																	0													91	97	95					2																	149226300		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.788C>A	2.37:g.149226300C>A	ENSP00000386049:p.Ser263Tyr		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.S263Y	ENST00000407073.1	37	c.788	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.027414|3.027414	0.54683|0.54683	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.48522	.|0.81;0.81	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.52996|0.52996	0.1769|0.1769	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.69078	.|0.997	.|D	.|0.66497	.|0.944	T|T	0.61317|0.61317	-0.7087|-0.7087	5|10	.|0.72032	.|D	.|0.01	-5.7879|-5.7879	19.0076|19.0076	0.92857|0.92857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|263	.|Q9P267	.|MBD5_HUMAN	I|Y	3|263	.|ENSP00000386049:S263Y;ENSP00000384672:S263Y	.|ENSP00000384672:S263Y	L|S	+|+	1|2	2|0	MBD5|MBD5	148942770|148942770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.571000|2.571000	0.86741|0.86741	0.591000|0.591000	0.81541|0.81541	CTA|TCT	MBD5	-	NULL		0.443	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	C			149226300	1	no_errors	ENST00000407073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149226300	C	A	149226300	3	1	131	1	0	0	0	0	1	0	0	0	9370	913	32	3	802	3	MBD5	2	149226300	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	551421	149226300	93973073	268	20408										
RIF1	55183	genome.wustl.edu	37	chr2	152301883	152301883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatcaaggtgatgccttagAacataattttagtgccatct	7	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:152301883A>C	ENST00000243326.5	+	18	2501	c.2018A>C	c.(2017-2019)gAa>gCa	p.E673A	RIF1_ENST00000428287.2_Missense_Mutation_p.E673A|RIF1_ENST00000430328.2_Missense_Mutation_p.E673A|RIF1_ENST00000444746.2_Missense_Mutation_p.E673A|RIF1_ENST00000453091.2_Missense_Mutation_p.E673A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATGCCTTAGAACATAATTTT	0.318																																																	0													143	138	140					2																	152301883		2203	4299	6502	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2018A>C	2.37:g.152301883A>C	ENSP00000243326:p.Glu673Ala		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.E673A	ENST00000243326.5	37	c.2018	CCDS2194.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.603610|4.603610	0.87157|0.87157	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98876|.	-5.2;-5.2;-5.2;-5.2;-5.2|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.047608|.	0.85682|.	D|.	0.000000|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	P;P|.	0.51449|.	0.848;0.945|.	B;P|.	0.47430|.	0.424;0.547|.	T|T	0.70967|0.70967	-0.4728|-0.4728	10|5	0.66056|.	D|.	0.02|.	-13.4857|-13.4857	15.3015|15.3015	0.73955|0.73955	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	673;673|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	A|S	673|664	ENSP00000390181:E673A;ENSP00000414615:E673A;ENSP00000415691:E673A;ENSP00000243326:E673A;ENSP00000416123:E673A|.	ENSP00000243326:E673A|.	E|R	+|+	2|3	0|2	RIF1|RIF1	152010129|152010129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.872000|7.872000	0.87187|0.87187	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	GAA|AGA	RIF1	-	NULL		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	A			152301883	1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152301883	A	C	152301883	3	2	131	1	0	0	0	0	1	0	0	0	13389	246	9	5	2088	5	RIF1	2	152301883	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3075583	152301883	90897490	269	20409										
NEB	4703	genome.wustl.edu	37	chr2	152348657	152348657	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attccgtttttgttccatttCtaccactttcctctgaatac	3	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:152348657C>A	ENST00000172853.10	-	145	19591	c.19444G>T	c.(19444-19446)Gaa>Taa	p.E6482*	NEB_ENST00000409198.1_Nonsense_Mutation_p.E6482*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E8338*|NEB_ENST00000397336.2_Nonsense_Mutation_p.E313*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E8338*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E8338*|NEB_ENST00000509223.2_Nonsense_Mutation_p.E251*|RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Nonsense_Mutation_p.E8338*|NEB_ENST00000498015.2_5'UTR			P20929	NEBU_HUMAN	nebulin	6482	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTCCATTTCTACCACTTTC	0.448																																																	0													247	238	241					2																	152348657		1950	4135	6085	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19444G>T	2.37:g.152348657C>A	ENSP00000172853:p.Glu6482*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E8338*	ENST00000172853.10	37	c.25012		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203671|5.203671	0.95033|0.95033	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	.|.	.|.	.|.	4.97|4.97	4.08|4.08	0.47627|0.47627	.|.	0.049811|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.15952|.	T|.	0.53|.	.|.	15.0692|15.0692	0.72021|0.72021	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|.	.|.	.|.	X|Y	6482;8338;8338;2438;2820;6482;313;251|471;578	.|.	ENSP00000172853:E6482X|.	E|X	-|-	1|3	0|2	NEB|NEB	152056903|152056903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.790000|4.790000	0.62453|0.62453	1.281000|1.281000	0.44480|0.44480	0.563000|0.563000	0.77884|0.77884	GAA|TAG	NEB	-	NULL		0.448	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152348657	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152348657	C	A	152348657	4	1	131	1	0	0	0	0	0	1	0	0	10326	922	32	3	585	3	NEB	2	152348657	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	46774	152348657	90850716	270	20410										
NEB	4703	genome.wustl.edu	37	chr2	152518712	152518712	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcgagtccatgagtgtggaAtacttcaaagtgtctgggtg	13	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:152518712A>C	ENST00000172853.10	-	46	6054	c.5907T>G	c.(5905-5907)taT>taG	p.Y1969*	NEB_ENST00000409198.1_Nonsense_Mutation_p.Y1969*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Y1969*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Y1969*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Y1969*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Y1969*			P20929	NEBU_HUMAN	nebulin	1969			Y -> H (in dbSNP:rs34532796).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAGTGTGGAATACTTCAAAG	0.423																																																	0													113	109	110					2																	152518712		1916	4116	6032	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5907T>G	2.37:g.152518712A>C	ENSP00000172853:p.Tyr1969*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y1969*	ENST00000172853.10	37	c.5907		2	.	.	.	.	.	.	.	.	.	.	A	47	13.608742	0.99752	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.86	0.853	0.19001	.	0.057329	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.411	0.44294	0.6706:0.0:0.3294:0.0	.	.	.	.	X	1969	.	ENSP00000172853:Y1969X	Y	-	3	2	NEB	152226958	0.985000	0.35326	0.998000	0.56505	0.969000	0.65631	0.290000	0.18975	-0.017000	0.14103	-0.263000	0.10527	TAT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		A	NM_004543		152518712	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	152518712	A	C	152518712	4	2	131	1	0	0	0	0	0	1	0	0	10326	108	4	5	20327	5	NEB	2	152518712	Nonsense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	170055	152518712	90680661	271	20411										
BAZ2B	29994	genome.wustl.edu	37	chr2	160206467	160206467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attggggagaggactgtagaActtccctggaccacttgaac	12	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:160206467A>C	ENST00000392783.2	-	28	5110	c.4615T>G	c.(4615-4617)Ttc>Gtc	p.F1539V	BAZ2B_ENST00000343439.5_Missense_Mutation_p.F1439V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.F1505V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.F1503V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGACTGTAGAACTTCCCTGGA	0.438																																																	0													157	152	153					2																	160206467		2020	4174	6194	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4615T>G	2.37:g.160206467A>C	ENSP00000376534:p.Phe1539Val		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.F1539V	ENST00000392783.2	37	c.4615	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556072	0.27827	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.56611	0.53;0.52;0.53;0.45	6.17	6.17	0.99709	.	0.000000	0.38436	U	0.001695	T	0.48840	0.1522	M	0.63428	1.95	0.45747	D	0.998647	B;B	0.33637	0.42;0.016	B;B	0.28465	0.09;0.004	T	0.45571	-0.9252	10	0.15952	T	0.53	-7.877	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1503;1539	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1503;1539;1505;1439	ENSP00000376533:F1503V;ENSP00000376534:F1539V;ENSP00000348087:F1505V;ENSP00000339670:F1439V	ENSP00000339670:F1439V	F	-	1	0	BAZ2B	159914713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.068000	0.64364	2.371000	0.80710	0.533000	0.62120	TTC	BAZ2B	-	NULL		0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	A			160206467	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160206467	A	C	160206467	3	2	131	1	0	0	0	0	1	0	0	0	1333	43	2	5	1931	5	BAZ2B	2	160206467	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	7687755	160206467	82992906	272	20412										
LY75	4065	genome.wustl.edu	37	chr2	160728989	160728989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtccgttaaaaagtgaagaAattcctttatttcatccaca	6	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:160728989A>C	ENST00000263636.4	-	13	2117	c.2090T>G	c.(2089-2091)tTt>tGt	p.F697C	LY75_ENST00000554112.1_Missense_Mutation_p.F697C|LY75_ENST00000553424.1_Missense_Mutation_p.F697C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F697C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F697C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	697	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AAAGTGAAGAAATTCCTTTAT	0.373																																																	0													107	116	113					2																	160728989		2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2090T>G	2.37:g.160728989A>C	ENSP00000263636:p.Phe697Cys		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.F697C	ENST00000263636.4	37	c.2090	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183553	0.38609	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12	5.17	3.99	0.46301	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.503772	0.14784	U	0.298624	T	0.27663	0.0680	M	0.79475	2.455	0.31915	N	0.614185	D;D;D;D	0.76494	0.967;0.999;0.999;0.999	D;D;D;D	0.70227	0.926;0.927;0.968;0.939	T	0.27123	-1.0083	10	0.72032	D	0.01	-13.9765	10.6428	0.45602	0.8558:0.0:0.0:0.1442	.	315;697;697;697	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	C	697	ENSP00000451511:F697C;ENSP00000451446:F697C;ENSP00000263636:F697C;ENSP00000423463:F697C;ENSP00000421035:F697C	ENSP00000423463:F697C	F	-	2	0	LY75;LY75-CD302	160437235	1.000000	0.71417	0.987000	0.45799	0.116000	0.19942	4.810000	0.62598	0.889000	0.36185	0.397000	0.26171	TTT	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	A			160728989	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160728989	A	C	160728989	3	2	131	1	0	0	0	0	1	0	0	0	9122	14	1	5	3170	5	LY75	2	160728989	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	522522	160728989	82470384	273	20413										
LY75	4065	genome.wustl.edu	37	chr2	160735169	160735169	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtgatagtcagattgcagtTtgttccaaaagggacctcat	10	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:160735169T>G	ENST00000263636.4	-	10	1606	c.1579A>C	c.(1579-1581)Aac>Cac	p.N527H	LY75_ENST00000554112.1_Missense_Mutation_p.N527H|LY75_ENST00000553424.1_Missense_Mutation_p.N527H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N527H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N527H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	527	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGATTGCAGTTTGTTCCAAAA	0.383																																																	0													171	154	160					2																	160735169		2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1579A>C	2.37:g.160735169T>G	ENSP00000263636:p.Asn527His		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.N527H	ENST00000263636.4	37	c.1579	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	T	6.786	0.513922	0.12944	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54279	0.58;3.01;2.98;0.58;3.01	5.31	4.08	0.47627	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.204968	0.24280	N	0.039916	T	0.35422	0.0931	N	0.22421	0.69	0.26624	N	0.972598	B;B;B;B	0.19331	0.003;0.028;0.035;0.023	B;B;B;B	0.19391	0.012;0.015;0.025;0.021	T	0.12528	-1.0544	10	0.14656	T	0.56	-14.8073	11.7107	0.51623	0.0:0.0:0.2141:0.7859	.	145;527;527;527	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	H	527	ENSP00000451511:N527H;ENSP00000451446:N527H;ENSP00000263636:N527H;ENSP00000423463:N527H;ENSP00000421035:N527H	ENSP00000423463:N527H	N	-	1	0	LY75;LY75-CD302	160443415	0.954000	0.32549	1.000000	0.80357	0.997000	0.91878	1.418000	0.34782	2.124000	0.65301	0.528000	0.53228	AAC	LY75	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.383	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	T			160735169	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	missense	SNP	0.964	G	G	160735169	T	G	160735169	3	3	131	1	0	0	0	0	1	0	0	0	9122	1841	64	5	3693	5	LY75	2	160735169	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6180	160735169	82464204	274	20414										
SLC4A10	57282	genome.wustl.edu	37	chr2	162696379	162696379	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcctcatgaccttttcacaGaactggatgagatttgttgg	9	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:162696379G>T	ENST00000446997.1	+	4	451	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.E131*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	120					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCTTTTCACAGAACTGGATGA	0.438																																																	0													141	142	142					2																	162696379		2121	4255	6376	SO:0001587	stop_gained	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.358G>T	2.37:g.162696379G>T	ENSP00000393066:p.Glu120*		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E120*	ENST00000446997.1	37	c.358	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577448	0.86645	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	.	.	.	X	131;120;120;120;120;120;120;120	.	ENSP00000272716:E120X	E	+	1	0	SLC4A10	162404625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.706000	0.98722	2.646000	0.89796	0.650000	0.86243	GAA	SLC4A10	-	superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162696379	1	no_errors	ENST00000446997	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	162696379	G	T	162696379	4	4	131	1	0	0	0	0	0	1	0	0	14681	943	33	3	457	3	SLC4A10	2	162696379	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1961210	162696379	80502994	275	20415										
DPP4	1803	genome.wustl.edu	37	chr2	162929996	162929996	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagaagaaccttccacggtgTctgcaagccgagcagatcaa	10	12	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:162929996T>C	ENST00000360534.3	-	2	567	c.7A>G	c.(7-9)Aca>Gca	p.T3A	AC008063.2_ENST00000418335.1_RNA	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	3					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTCCACGGTGTCTGCAAGCCG	0.572																																																	0													59	57	58					2																	162929996		2203	4300	6503	SO:0001630	splice_region_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.7-1A>G	2.37:g.162929996T>C			Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T3A	ENST00000360534.3	37	c.7	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653260	0.47362	.	.	ENSG00000197635	ENST00000360534	T	0.21361	2.01	4.75	3.61	0.41365	.	0.893166	0.09889	N	0.742575	T	0.21145	0.0509	L	0.60455	1.87	0.34915	D	0.747847	B	0.14012	0.009	B	0.10450	0.005	T	0.19877	-1.0292	10	0.41790	T	0.15	.	6.5004	0.22166	0.0:0.1062:0.0:0.8938	.	3	P27487	DPP4_HUMAN	A	3	ENSP00000353731:T3A	ENSP00000353731:T3A	T	-	1	0	DPP4	162638242	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	1.947000	0.40293	2.103000	0.63969	0.528000	0.53228	ACA	DPP4	-	NULL		0.572	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	T		Missense_Mutation	162929996	-1	no_errors	ENST00000360534	ensembl	human	known	70_37	missense	SNP	0.995	C	C	162929996	T	C	162929996	5	2	131	1	0	0	0	0	0	0	1	0	4739	1681	58	5	2393	5	DPP4	2	162929996	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	233617	162929996	80269377	276	20416										
IFIH1	64135	genome.wustl.edu	37	chr2	163124713	163124713	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttattagtgatgggttattCttgtaatgcttggcaatatt	10	3	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:163124713C>A	ENST00000263642.2	-	14	3086	c.2691G>T	c.(2689-2691)aaG>aaT	p.K897N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	897					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTATTCTTGTAATGCT	0.353																																																	0													129	135	133					2																	163124713		2203	4300	6503	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2691G>T	2.37:g.163124713C>A	ENSP00000263642:p.Lys897Asn		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K897N	ENST00000263642.2	37	c.2691	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	C	4.848	0.157640	0.09236	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06218	3.33	5.31	0.356	0.16074	.	0.545312	0.21179	N	0.078845	T	0.04363	0.0120	L	0.38531	1.155	0.09310	N	1	B	0.27264	0.173	B	0.22152	0.038	T	0.41980	-0.9478	10	0.23891	T	0.37	-3.5409	6.0247	0.19648	0.0:0.5802:0.1312:0.2886	.	897	Q9BYX4	IFIH1_HUMAN	N	897	ENSP00000263642:K897N	ENSP00000263642:K897N	K	-	3	2	IFIH1	162832959	0.860000	0.29831	0.000000	0.03702	0.130000	0.20726	0.754000	0.26390	-0.009000	0.14296	0.650000	0.86243	AAG	IFIH1	-	NULL		0.353	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2	C	NM_022168		163124713	-1	no_errors	ENST00000263642	ensembl	human	known	70_37	missense	SNP	0.010	A	A	163124713	C	A	163124713	3	1	131	1	0	0	0	0	1	0	0	0	7540	912	32	3	398	3	IFIH1	2	163124713	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	194717	163124713	80074660	277	20417										
SCN2A	6326	genome.wustl.edu	37	chr2	166179831	166179831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccgaagagactctctgttcGtgccgcacagacatggagaa	12	11	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166179831G>A	ENST00000375437.2	+	12	2127	c.1837G>A	c.(1837-1839)Gtg>Atg	p.V613M	SCN2A_ENST00000283256.6_Missense_Mutation_p.V613M|SCN2A_ENST00000375427.2_Missense_Mutation_p.V613M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V613M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	613					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTCTGTTCGTGCCGCACAG	0.557																																																	0													67	58	61					2																	166179831		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1837G>A	2.37:g.166179831G>A	ENSP00000364586:p.Val613Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V613M	ENST00000375437.2	37	c.1837	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529648	0.85706	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.207217	0.33938	N	0.004401	D	0.96993	0.9018	M	0.90019	3.08	0.45118	D	0.998138	P;D	0.89917	0.76;1.0	B;D	0.97110	0.356;1.0	D	0.97279	0.9916	10	0.72032	D	0.01	.	19.705	0.96069	0.0:0.0:1.0:0.0	.	613;613	Q99250-2;Q99250	.;SCN2A_HUMAN	M	613	ENSP00000364586:V613M;ENSP00000349973:V613M;ENSP00000283256:V613M;ENSP00000364576:V613M	ENSP00000283256:V613M	V	+	1	0	SCN2A	165888077	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.414000	0.59802	2.666000	0.90696	0.637000	0.83480	GTG	SCN2A	-	pfam_DUF3451		0.557	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166179831	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166179831	G	A	166179831	3	1	131	1	0	0	0	0	1	0	0	0	13946	1145	40	2	1975	2	SCN2A	2	166179831	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3055118	166179831	77019542	278	20418										
SCN2A	6326	genome.wustl.edu	37	chr2	166198953	166198953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttggcaaatgtggaaggaTtgtcagttctccgatcattc	11	7	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166198953T>G	ENST00000375437.2	+	15	2826	c.2536T>G	c.(2536-2538)Ttg>Gtg	p.L846V	SCN2A_ENST00000283256.6_Missense_Mutation_p.L846V|SCN2A_ENST00000375427.2_Missense_Mutation_p.L846V|SCN2A_ENST00000357398.3_Missense_Mutation_p.L846V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	846					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGGAAGGATTGTCAGTTCT	0.348																																																	0													162	166	164					2																	166198953		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2536T>G	2.37:g.166198953T>G	ENSP00000364586:p.Leu846Val		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L846V	ENST00000375437.2	37	c.2536	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358672	0.61403	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.36	-4.95	0.03048	Ion transport (1);	0.000000	0.50627	D	0.000103	D	0.98526	0.9508	M	0.71871	2.18	0.34940	D	0.750242	D;D	0.71674	0.985;0.998	P;D	0.87578	0.856;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	14.4734	0.67531	0.0:0.5065:0.0:0.4935	.	846;846	Q99250-2;Q99250	.;SCN2A_HUMAN	V	846	ENSP00000364586:L846V;ENSP00000349973:L846V;ENSP00000283256:L846V;ENSP00000364576:L846V	ENSP00000283256:L846V	L	+	1	2	SCN2A	165907199	0.723000	0.28027	0.930000	0.37139	0.971000	0.66376	-0.139000	0.10358	-0.866000	0.04068	-0.361000	0.07541	TTG	SCN2A	-	pfam_Ion_trans_dom		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	T	NM_021007		166198953	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	0.452	G	G	166198953	T	G	166198953	3	3	131	1	0	0	0	0	1	0	0	0	13946	1490	52	5	2686	5	SCN2A	2	166198953	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	19122	166198953	77000420	279	20419										
SCN2A	6326	genome.wustl.edu	37	chr2	166237192	166237192	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttcattctttaccttgaatCttttcattggtgtcatcata	5	8	6	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166237192C>A	ENST00000375437.2	+	24	4689	c.4399C>A	c.(4399-4401)Ctt>Att	p.L1467I	SCN2A_ENST00000283256.6_Missense_Mutation_p.L1467I|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1467I|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1467I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1467					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACCTTGAATCTTTTCATTGG	0.279																																																	0													106	97	100					2																	166237192		2198	4288	6486	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4399C>A	2.37:g.166237192C>A	ENSP00000364586:p.Leu1467Ile		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1467I	ENST00000375437.2	37	c.4399	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171472	0.78452	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	4.91	4.02	0.46733	Ion transport (1);	0.000000	0.64402	D	0.000015	D	0.99351	0.9772	M	0.89287	3.02	0.49389	D	0.999789	D;D	0.71674	0.997;0.998	D;D	0.87578	0.965;0.998	D	0.98691	1.0696	10	0.72032	D	0.01	.	10.1166	0.42593	0.0:0.8459:0.0:0.1541	.	1467;1467	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1467	ENSP00000364586:L1467I;ENSP00000349973:L1467I;ENSP00000283256:L1467I;ENSP00000364576:L1467I	ENSP00000283256:L1467I	L	+	1	0	SCN2A	165945438	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.284000	0.51708	2.279000	0.76181	0.655000	0.94253	CTT	SCN2A	-	pfam_Ion_trans_dom		0.279	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166237192	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166237192	C	A	166237192	3	1	131	1	0	0	0	0	1	0	0	0	13946	913	32	3	4585	3	SCN2A	2	166237192	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	38239	166237192	76962181	280	20420										
SCN2A	6326	genome.wustl.edu	37	chr2	166246238	166246238	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccaccacgtctccaccctcGtatgatagtgtgaccaaacc	6	16	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166246238G>T	ENST00000375437.2	+	27	6212	c.5922G>T	c.(5920-5922)tcG>tcT	p.S1974S	SCN2A_ENST00000283256.6_Silent_p.S1974S|SCN2A_ENST00000375427.2_Silent_p.S1974S|SCN2A_ENST00000357398.3_Silent_p.S1974S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1974					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCACCCTCGTATGATAGTG	0.373																																																	0													47	48	48					2																	166246238		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5922G>T	2.37:g.166246238G>T			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.S1974	ENST00000375437.2	37	c.5922	CCDS33314.1	2																																																																																			SCN2A	-	NULL		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166246238	1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.000	T	T	166246238	G	T	166246238	2	4	131	1	0	0	0	0	0	0	0	1	13946	1132	40	2		2	SCN2A	2	166246238	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	9046	166246238	76953135	281	20421										
GALNT3	2591	genome.wustl.edu	37	chr2	166621549	166621549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaggggagggcagcgcttaAatttttgttcaatacatcta	11	7	2	0	rs547467910		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166621549A>C	ENST00000392701.3	-	3	1308	c.533T>G	c.(532-534)tTt>tGt	p.F178C		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	178					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGCGCTTAAATTTTTGTTC	0.363													a|||	1	0.000199681	8e-04	0	5008	,	,		16241	0		0	False		,,,				2504	0																0													57	56	56					2																	166621549		2203	4300	6503	SO:0001583	missense	2591				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.533T>G	2.37:g.166621549A>C	ENSP00000376465:p.Phe178Cys		Q53TG9|Q7Z476	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F178C	ENST00000392701.3	37	c.533	CCDS2226.1	2	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657676	0.47467	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.61859	0.36;0.07	5.8	5.8	0.92144	.	0.167364	0.52532	D	0.000063	T	0.76955	0.4060	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.80540	-0.1337	10	0.87932	D	0	.	16.138	0.81502	1.0:0.0:0.0:0.0	.	178	Q14435	GALT3_HUMAN	C	178	ENSP00000376465:F178C;ENSP00000412643:F178C	ENSP00000376465:F178C	F	-	2	0	GALNT3	166329795	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	9.152000	0.94680	2.203000	0.70933	0.459000	0.35465	TTT	GALNT3	-	NULL		0.363	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	HGNC	protein_coding	OTTHUMT00000255205.2	A	NM_004482		166621549	-1	no_errors	ENST00000392701	ensembl	human	known	70_37	missense	SNP	1.000	C	C	166621549	A	C	166621549	3	2	131	1	0	0	0	0	1	0	0	0	6233	14	1	5	1404	5	GALNT3	2	166621549	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	375311	166621549	76577824	282	20422										
G6PC2	57818	genome.wustl.edu	37	chr2	169764214	169764214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttagggtgctcaacattgaCctgctgtggtccgtgcccat	11	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:169764214C>A	ENST00000375363.3	+	5	785	c.693C>A	c.(691-693)gaC>gaA	p.D231E	G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	231					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TCAACATTGACCTGCTGTGGT	0.527																																																	0													185	151	162					2																	169764214		2203	4300	6503	SO:0001583	missense	57818			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.693C>A	2.37:g.169764214C>A	ENSP00000364512:p.Asp231Glu		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.D231E	ENST00000375363.3	37	c.693	CCDS2230.1	2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698320	0.68386	.	.	ENSG00000152254	ENST00000375363	T	0.78707	-1.2	5.86	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.78049	2.395	0.80722	D	1	D	0.57899	0.981	P	0.46362	0.514	T	0.78788	-0.2067	10	0.62326	D	0.03	-21.0592	10.7818	0.46382	0.0:0.674:0.0:0.326	.	231	Q9NQR9	G6PC2_HUMAN	E	231	ENSP00000364512:D231E	ENSP00000364512:D231E	D	+	3	2	G6PC2	169472460	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	0.795000	0.26972	0.398000	0.25338	0.655000	0.94253	GAC	G6PC2	-	pirsf_Glucose-6-phosphatase		0.527	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	HGNC	protein_coding	OTTHUMT00000255234.2	C	NM_021176		169764214	1	no_errors	ENST00000375363	ensembl	human	known	70_37	missense	SNP	0.998	A	A	169764214	C	A	169764214	3	1	131	1	0	0	0	0	1	0	0	0	6162	506	18	4	711	4	G6PC2	2	169764214	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3142665	169764214	73435159	283	20423										
LRP2	4036	genome.wustl.edu	37	chr2	170063682	170063682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccactgtgactttaagaagaAcacggcggtaagtagtattg	11	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170063682A>G	ENST00000263816.3	-	39	6833	c.6548T>C	c.(6547-6549)gTt>gCt	p.V2183A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2183					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTAAGAAGAACACGGCGGTA	0.418																																																	0													103	100	101					2																	170063682		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6548T>C	2.37:g.170063682A>G	ENSP00000263816:p.Val2183Ala		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V2183A	ENST00000263816.3	37	c.6548	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310976	0.81358	.	.	ENSG00000081479	ENST00000263816	D	0.93712	-3.27	5.98	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.238751	0.41938	D	0.000788	D	0.92795	0.7709	M	0.71036	2.16	0.80722	D	1	P	0.47762	0.9	B	0.43331	0.416	D	0.92334	0.5876	10	0.87932	D	0	.	13.4536	0.61184	0.8692:0.1308:0.0:0.0	.	2183	P98164	LRP2_HUMAN	A	2183	ENSP00000263816:V2183A	ENSP00000263816:V2183A	V	-	2	0	LRP2	169771928	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	7.521000	0.81832	1.059000	0.40554	0.528000	0.53228	GTT	LRP2	-	smart_LDLR_classB_rpt		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	A	NM_004525		170063682	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170063682	A	G	170063682	3	3	131	1	0	0	0	0	1	0	0	0	8979	43	2	5	7583	5	LRP2	2	170063682	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	299468	170063682	73135691	284	20424										
LRP2	4036	genome.wustl.edu	37	chr2	170082995	170082995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaacatctaaaccattctgTatccctgctatggggaccat	6	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170082995T>C	ENST00000263816.3	-	32	5616	c.5331A>G	c.(5329-5331)atA>atG	p.I1777M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1777					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AACCATTCTGTATCCCTGCTA	0.333																																																	0													132	128	130					2																	170082995		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5331A>G	2.37:g.170082995T>C	ENSP00000263816:p.Ile1777Met		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I1777M	ENST00000263816.3	37	c.5331	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	15.85	2.956150	0.53293	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.83	-1.07	0.09968	Six-bladed beta-propeller, TolB-like (1);	0.456273	0.24988	N	0.034010	D	0.86732	0.6003	M	0.70903	2.155	0.52099	D	0.999942	P	0.47302	0.893	P	0.45610	0.487	T	0.80002	-0.1565	10	0.66056	D	0.02	.	0.0109	0.00001	0.2953:0.2008:0.1935:0.3104	.	1777	P98164	LRP2_HUMAN	M	1777	ENSP00000263816:I1777M	ENSP00000263816:I1777M	I	-	3	3	LRP2	169791241	0.138000	0.22547	0.000000	0.03702	0.802000	0.45316	-0.458000	0.06737	-0.094000	0.12374	0.533000	0.62120	ATA	LRP2	-	smart_LDLR_classB_rpt		0.333	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	T	NM_004525		170082995	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.005	C	C	170082995	T	C	170082995	3	2	131	1	0	0	0	0	1	0	0	0	8979	1628	57	5	8828	5	LRP2	2	170082995	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	19313	170082995	73116378	285	20425										
SSB	6741	genome.wustl.edu	37	chr2	170666792	170666792	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcactttgtatatttttataGaaatctctagaagaaaagat	5	4	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170666792G>T	ENST00000409333.1	+	9	916		c.e9-1		METTL5_ENST00000409837.1_3'UTR|SSB_ENST00000260956.4_Splice_Site			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)						histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TATTTTTATAGAAATCTCTAG	0.323																																																	0													21	23	22					2																	170666792		2169	4296	6465	SO:0001630	splice_region_variant	6741				CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.670-1G>T	2.37:g.170666792G>T			Q15367|Q53XJ4	Splice_Site	SNP	-	e8-1	ENST00000409333.1	37	c.670-1	CCDS2237.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939374	0.52972	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSB	170375038	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	8.949000	0.93012	2.414000	0.81942	0.460000	0.39030	.	SSB	-	-		0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSB	HGNC	protein_coding	OTTHUMT00000333316.1	G	NM_003142	Intron	170666792	1	no_errors	ENST00000260956	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	170666792	G	T	170666792	5	4	131	1	0	0	0	0	0	0	1	0	15208	956	33	3	699	3	SSB	2	170666792	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	583797	170666792	72532581	286	20426										
MYO3B	140469	genome.wustl.edu	37	chr2	171071299	171071299	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtgaaggggaataacattCttctgacaacagaaggagga	12	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:171071299C>A	ENST00000408978.4	+	5	630	c.487C>A	c.(487-489)Ctt>Att	p.L163I	MYO3B_ENST00000334231.6_Missense_Mutation_p.L172I|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.L163I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAATAACATTCTTCTGACAAC	0.458																																																	0													104	102	103					2																	171071299		1974	4171	6145	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.487C>A	2.37:g.171071299C>A	ENSP00000386213:p.Leu163Ile		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.L172I	ENST00000408978.4	37	c.514	CCDS42773.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.732888|4.732888	0.89482|0.89482	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86834|0.86834	0.6028|0.6028	M|M	0.92880|0.92880	3.355|3.355	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.78314|.	0.976;0.991;0.981;0.991|.	D|D	0.89527|0.89527	0.3782|0.3782	10|5	0.87932|.	D|.	0|.	.|.	19.554|19.554	0.95333|0.95333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;163;163;163|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	I|Y	163;163;162;172;172|162	ENSP00000386497:L163I;ENSP00000386213:L163I;ENSP00000446237:L172I;ENSP00000335100:L172I|.	ENSP00000314213:L162I|.	L|S	+|+	1|2	0|0	MYO3B|MYO3B	170779545|170779545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.632000|2.632000	0.89209|0.89209	0.650000|0.650000	0.86243|0.86243	CTT|TCT	MYO3B	-	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		0.458	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	C			171071299	1	no_errors	ENST00000334231	ensembl	human	known	70_37	missense	SNP	1.000	A	A	171071299	C	A	171071299	3	1	131	1	0	0	0	0	1	0	0	0	10100	913	32	3	505	3	MYO3B	2	171071299	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	404507	171071299	72128074	287	20427										
CHN1	1123	genome.wustl.edu	37	chr2	175689189	175689189	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttcactccctgagcaatgaGaccccacataaagttggcac	7	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:175689189G>T	ENST00000409900.3	-	8	998	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	CHN1_ENST00000295497.7_Missense_Mutation_p.L104I|CHN1_ENST00000409156.3_Missense_Mutation_p.L203I|CHN1_ENST00000409597.1_Missense_Mutation_p.L45I|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	229					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGAGCAATGAGACCCCACATA	0.453			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													82	74	77					2																	175689189		1957	4187	6144	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.685C>A	2.37:g.175689189G>T	ENSP00000386741:p.Leu229Ile		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.L229I	ENST00000409900.3	37	c.685	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989600	0.93106	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238;ENST00000444573	D;D;D;T;D;T;D;D;D	0.85339	-1.97;-1.97;-1.97;1.46;-1.97;1.46;-1.97;-1.97;-1.97	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	L	0.38733	1.17	0.80722	D	1	P;D;P	0.71674	0.946;0.998;0.934	P;D;P	0.73380	0.833;0.98;0.743	D	0.87330	0.2324	10	0.35671	T	0.21	.	19.1488	0.93479	0.0:0.0:1.0:0.0	.	203;229;104	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	I	229;104;45;203;4;4;47;55;104	ENSP00000386741:L229I;ENSP00000295497:L104I;ENSP00000386469:L45I;ENSP00000386470:L203I;ENSP00000386322:L4I;ENSP00000411911:L4I;ENSP00000410496:L47I;ENSP00000409798:L55I;ENSP00000392603:L104I	ENSP00000295497:L104I	L	-	1	0	CHN1	175397435	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.349000	0.97066	2.688000	0.91661	0.655000	0.94253	CTC	CHN1	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_N-chimaerin,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.453	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	G	NM_001822		175689189	-1	no_errors	ENST00000409900	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175689189	G	T	175689189	3	4	131	1	0	0	0	0	1	0	0	0	3367	942	33	3	718	3	CHN1	2	175689189	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4617890	175689189	67510184	288	20428										
ATP5G3	518	genome.wustl.edu	37	chr2	176043891	176043891	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aataaatttggcagcagtatCaatgtctctgctgattgcac	8	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:176043891C>A	ENST00000284727.4	-	4	3232	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	ATP5G3_ENST00000409194.1_Missense_Mutation_p.D70Y|ATP5G3_ENST00000392541.3_Missense_Mutation_p.D70Y|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	70					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GCAGCAGTATCAATGTCTCTG	0.473																																					GBM(30;387 605 18606 28805 47989)												0													111	100	104					2																	176043891		2203	4300	6503	SO:0001583	missense	518			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	843	protein-coding gene	gene with protein product		602736	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.208G>T	2.37:g.176043891C>A	ENSP00000284727:p.Asp70Tyr		B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu	p.D70Y	ENST00000284727.4	37	c.208	CCDS2263.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.263620	0.95399	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.40476	1.03;1.03;1.03	5.92	5.92	0.95590	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76806	-0.2823	10	0.44086	T	0.13	-8.4725	20.3343	0.98733	0.0:1.0:0.0:0.0	.	70	P48201	AT5G3_HUMAN	Y	70	ENSP00000284727:D70Y;ENSP00000387317:D70Y;ENSP00000376324:D70Y	ENSP00000284727:D70Y	D	-	1	0	ATP5G3	175752137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.822000	0.97130	0.650000	0.86243	GAT	ATP5G3	-	superfamily_ATPase_F0/V0-cplx_csu		0.473	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5G3	HGNC	protein_coding	OTTHUMT00000255563.1	C	NM_001689		176043891	-1	no_errors	ENST00000284727	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176043891	C	A	176043891	3	1	131	1	0	0	0	0	1	0	0	0	1156	826	29	3	232	3	ATP5G3	2	176043891	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	354702	176043891	67155482	289	20429										
KIAA1715	80856	genome.wustl.edu	37	chr2	176794800	176794800	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggcttcctcattctcagtCtcttgtttctcctctggttc	7	13	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:176794800C>A	ENST00000272748.4	-	13	1429	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	KIAA1715_ENST00000544803.1_Missense_Mutation_p.E425D|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	394					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CATTCTCAGTCTCTTGTTTCT	0.433																																																	0													222	204	210					2																	176794800		2203	4300	6503	SO:0001583	missense	80856			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1182G>T	2.37:g.176794800C>A	ENSP00000272748:p.Glu394Asp		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.E425D	ENST00000272748.4	37	c.1275	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308515	0.23821	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.57	1.89	0.25635	.	0.355322	0.29066	N	0.013248	T	0.51007	0.1649	M	0.61703	1.905	0.38378	D	0.945047	B;B;B;B	0.30482	0.275;0.281;0.18;0.079	B;B;B;B	0.31337	0.128;0.027;0.016;0.016	T	0.54193	-0.8330	9	0.87932	D	0	0.0303	7.656	0.28375	0.0:0.3421:0.0:0.6579	.	396;425;391;394	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	D	394;396;271;425	.	ENSP00000272748:E394D	E	-	3	2	KIAA1715	176503046	0.515000	0.26210	0.971000	0.41717	0.540000	0.34992	0.211000	0.17474	0.495000	0.27882	-0.340000	0.08031	GAG	KIAA1715	-	NULL		0.433	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3	C	XM_042834		176794800	-1	no_errors	ENST00000544803	ensembl	human	known	70_37	missense	SNP	0.659	A	A	176794800	C	A	176794800	3	1	131	1	0	0	0	0	1	0	0	0	8274	912	32	3	108	3	KIAA1715	2	176794800	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	750909	176794800	66404573	290	20430										
RBM45	129831	genome.wustl.edu	37	chr2	178982797	178982797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttaggtgtatggagatatcGagtattgcagcattattaag	11	4	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:178982797G>A	ENST00000286070.5	+	3	531	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	147	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TGGAGATATCGAGTATTGCAG	0.328																																																	0													89	91	90					2																	178982797		2203	4300	6503	SO:0001583	missense	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.439G>A	2.37:g.178982797G>A	ENSP00000286070:p.Glu147Lys		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E147K	ENST00000286070.5	37	c.439	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.433047	0.96150	.	.	ENSG00000155636	ENST00000286070	D	0.86769	-2.17	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	L	0.35644	1.08	0.80722	D	1	D	0.61697	0.99	P	0.48334	0.574	D	0.87771	0.2605	10	0.66056	D	0.02	-18.6616	18.3967	0.90501	0.0:0.0:1.0:0.0	.	147	Q8IUH3-3	.	K	147	ENSP00000286070:E147K	ENSP00000286070:E147K	E	+	1	0	RBM45	178691043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.614000	0.98353	2.579000	0.87056	0.557000	0.71058	GAG	RBM45	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.328	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	G	NM_152945		178982797	1	no_errors	ENST00000286070	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178982797	G	A	178982797	3	1	131	1	0	0	0	0	1	0	0	0	13169	1059	37	1	449	1	RBM45	2	178982797	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2187997	178982797	64216576	291	20431										
TTN	7273	genome.wustl.edu	37	chr2	179391859	179391859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgatgatcagggttgtcagGtcatctgtgttttcaatgtg	12	5	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179391859G>A	ENST00000591111.1	-	313	103157	c.102933C>T	c.(102931-102933)gaC>gaT	p.D34311D	TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.D33384D|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.D26887D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.D27012D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.D27079D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Silent_p.D35952D|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	34311	Ig-like 152.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTGTCAGGTCATCTGTGT	0.458																																																	0													231	207	215					2																	179391859		1959	4157	6116	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102933C>T	2.37:g.179391859G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D33384	ENST00000591111.1	37	c.100152		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179391859	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179391859	G	A	179391859	2	1	131	1	0	0	0	0	0	0	0	1	16766	1252	44	4		4	TTN	2	179391859	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	409062	179391859	63807514	292	20432										
TTN	7273	genome.wustl.edu	37	chr2	179396051	179396051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttctgcagatgcagagtgTtcatatgaggagagactttc	11	6	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179396051T>C	ENST00000591111.1	-	308	100592	c.100368A>G	c.(100366-100368)gaA>gaG	p.E33456E	TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.E32529E|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.E26032E|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.E26157E|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.E26224E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Silent_p.E35097E|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33456					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCAGAGTGTTCATATGAGG	0.408																																																	0													110	113	112					2																	179396051		1893	4119	6012	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100368A>G	2.37:g.179396051T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E32529	ENST00000591111.1	37	c.97587		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179396051	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.413	C	C	179396051	T	C	179396051	2	2	131	1	0	0	0	0	0	0	0	1	16766	1722	60	5		5	TTN	2	179396051	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4192	179396051	63803322	293	20433										
TTN	7273	genome.wustl.edu	37	chr2	179411050	179411050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttgatcacagcagttgctcGtttgccagtatactgcaaag	9	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179411050G>A	ENST00000591111.1	-	292	90309	c.90085C>T	c.(90085-90087)Cga>Tga	p.R30029*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R29102*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R22605*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R22730*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R22797*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R31670*			Q8WZ42	TITIN_HUMAN	titin	30029	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTTGCTCGTTTGCCAGTA	0.458																																																	0													174	170	171					2																	179411050		1937	4134	6071	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90085C>T	2.37:g.179411050G>A	ENSP00000465570:p.Arg30029*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R29102*	ENST00000591111.1	37	c.87304		2	.	.	.	.	.	.	.	.	.	.	G	68	103.355250	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.66	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9367	0.79717	0.0:0.0:0.8637:0.1363	.	.	.	.	X	29102;22605;22797;22730;22602	.	ENSP00000340554:R22797X	R	-	1	2	TTN	179119296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.030000	0.49720	1.353000	0.45828	0.655000	0.94253	CGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179411050	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	179411050	G	A	179411050	4	1	131	1	0	0	0	0	0	1	0	0	16766	1153	40	2	13055	2	TTN	2	179411050	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	14999	179411050	63788323	294	20434										
TTN	7273	genome.wustl.edu	37	chr2	179439245	179439245	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgctcacagtctgccagaGaataccatttcgttcttttc	6	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179439245G>T	ENST00000591111.1	-	276	66915	c.66691C>A	c.(66691-66693)Ctc>Atc	p.L22231I	TTN_ENST00000342992.6_Missense_Mutation_p.L21304I|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14807I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14932I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14999I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23872I			Q8WZ42	TITIN_HUMAN	titin	22231	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTGCCAGAGAATACCATTT	0.408																																																	0													183	181	182					2																	179439245		1903	4116	6019	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66691C>A	2.37:g.179439245G>T	ENSP00000465570:p.Leu22231Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L21304I	ENST00000591111.1	37	c.63910		2	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337398	0.11013	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.7	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53481	0.1799	M	0.75085	2.285	0.34410	D	0.696289	B;B;B;B	0.20550	0.046;0.046;0.046;0.046	B;B;B;B	0.30943	0.122;0.122;0.122;0.122	T	0.61667	-0.7016	9	0.87932	D	0	.	7.2018	0.25885	0.0641:0.2315:0.5845:0.12	.	14807;14932;14999;22231	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	21304;14807;14999;14932;14805	ENSP00000343764:L21304I;ENSP00000434586:L14807I;ENSP00000340554:L14999I;ENSP00000352154:L14932I	ENSP00000340554:L14999I	L	-	1	0	TTN	179147491	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	3.360000	0.52299	0.774000	0.33427	-0.826000	0.03091	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179439245	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T	T	179439245	G	T	179439245	3	4	131	1	0	0	0	0	1	0	0	0	16766	942	33	3	36513	3	TTN	2	179439245	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	28195	179439245	63760128	295	20435										
TTN	7273	genome.wustl.edu	37	chr2	179454957	179454957	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcaggtctgcctttgactcGagctagaatgcggatagttt	11	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179454957G>A	ENST00000591111.1	-	254	56796	c.56572C>T	c.(56572-56574)Cga>Tga	p.R18858*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R17931*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11434*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R11559*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R11626*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R20499*			Q8WZ42	TITIN_HUMAN	titin	18858	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R17929R(1)|p.R11434R(1)|p.R11626R(1)|p.R17931R(1)|p.R11559R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGACTCGAGCTAGAATG	0.443																																																	5	Substitution - coding silent(5)	lung(5)											178	166	170					2																	179454957		1960	4142	6102	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56572C>T	2.37:g.179454957G>A	ENSP00000465570:p.Arg18858*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R17931*	ENST00000591111.1	37	c.53791		2	.	.	.	.	.	.	.	.	.	.	G	61	53.644592	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.96	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7805	0.78257	0.0:0.0:0.6915:0.3085	.	.	.	.	X	17931;11434;11626;11559;11432	.	ENSP00000340554:R11626X	R	-	1	2	TTN	179163203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.942000	0.56614	1.511000	0.48818	0.655000	0.94253	CGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179454957	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.782	A	A	179454957	G	A	179454957	4	1	131	1	0	0	0	0	0	1	0	0	16766	1066	37	1	46720	1	TTN	2	179454957	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	15712	179454957	63744416	296	20436										
TTN	7273	genome.wustl.edu	37	chr2	179477702	179477702	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaatgacataagactcaatCtttgcacctccatcatgttc	4	12	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179477702C>A	ENST00000591111.1	-	215	45047	c.44823G>T	c.(44821-44823)aaG>aaT	p.K14941N	TTN_ENST00000342992.6_Missense_Mutation_p.K14014N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7517N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7642N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7709N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16582N			Q8WZ42	TITIN_HUMAN	titin	14941	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGACTCAATCTTTGCACCTC	0.483																																																	0													93	92	92					2																	179477702		1981	4170	6151	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44823G>T	2.37:g.179477702C>A	ENSP00000465570:p.Lys14941Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K14014N	ENST00000591111.1	37	c.42042		2	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650074	0.14516	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.6	4.72	0.59763	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65080	0.2657	L	0.53249	1.67	0.49483	D	0.999795	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67027	-0.5774	9	0.87932	D	0	.	9.2028	0.37270	0.0:0.7913:0.0:0.2087	.	7517;7642;7709;14941	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14014;7517;7709;7642;7517	ENSP00000343764:K14014N;ENSP00000434586:K7517N;ENSP00000340554:K7709N;ENSP00000352154:K7642N	ENSP00000340554:K7709N	K	-	3	2	TTN	179185947	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	3.312000	0.51927	1.359000	0.45940	0.557000	0.71058	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179477702	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179477702	C	A	179477702	3	1	131	1	0	0	0	0	1	0	0	0	16766	912	32	3	58339	3	TTN	2	179477702	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	22745	179477702	63721671	297	20437										
TTN	7273	genome.wustl.edu	37	chr2	179481337	179481337	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatatcaccaaatttcaattCtttgggtgcacttgggcgag	9	8	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179481337C>A	ENST00000591111.1	-	207	43482	c.43258G>T	c.(43258-43260)Gaa>Taa	p.E14420*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E13493*|TTN-AS1_ENST00000589234.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E6996*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E7121*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7188*|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E16061*			Q8WZ42	TITIN_HUMAN	titin	14420	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCAATTCTTTGGGTGCA	0.388																																																	0													97	93	94					2																	179481337		1870	4112	5982	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43258G>T	2.37:g.179481337C>A	ENSP00000465570:p.Glu14420*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13493*	ENST00000591111.1	37	c.40477		2	.	.	.	.	.	.	.	.	.	.	C	59	35.429704	0.99982	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	.	.	.	X	13493;6996;7188;7121;6996	.	ENSP00000340554:E7188X	E	-	1	0	TTN	179189582	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.644000	0.83416	2.793000	0.96121	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179481337	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	179481337	C	A	179481337	4	1	131	1	0	0	0	0	0	1	0	0	16766	922	32	3	59936	3	TTN	2	179481337	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3635	179481337	63718036	298	20438										
TTN	7273	genome.wustl.edu	37	chr2	179550275	179550275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagcttccactctcttagAaataatgtgcagcttttctt	5	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179550275A>C	ENST00000591111.1	-	126	31635	c.31411T>G	c.(31411-31413)Tct>Gct	p.S10471A	TTN_ENST00000342992.6_Missense_Mutation_p.S9544A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10788A			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCTTAGAAATAATGTGC	0.358																																																	0													108	104	105					2																	179550275		1905	4119	6024	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31411T>G	2.37:g.179550275A>C	ENSP00000465570:p.Ser10471Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S9544A	ENST00000591111.1	37	c.28630		2	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918028	0.33815	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.95	3.54	0.40534	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42017	0.1184	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24368	-1.0162	9	0.87932	D	0	.	6.7423	0.23443	0.4632:0.4375:0.0993:0.0	.	10471	Q8WZ42	TITIN_HUMAN	A	9544	ENSP00000343764:S9544A	ENSP00000343764:S9544A	S	-	1	0	TTN	179258520	0.996000	0.38824	0.410000	0.26471	0.976000	0.68499	1.961000	0.40432	0.480000	0.27534	0.533000	0.62120	TCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179550275	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.885	C	C	179550275	A	C	179550275	3	2	131	1	0	0	0	0	1	0	0	0	16766	246	9	5	72107	5	TTN	2	179550275	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	68938	179550275	63649098	299	20439										
TTN	7273	genome.wustl.edu	37	chr2	179560599	179560599	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtttatacataccttcataGacctccttttgaacttgaat	4	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179560599G>T	ENST00000591111.1	-	112	30473	c.30249C>A	c.(30247-30249)gtC>gtA	p.V10083V	TTN_ENST00000342992.6_Silent_p.V9156V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.V10400V			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCTTCATAGACCTCCTTTT	0.378																																																	0													129	124	125					2																	179560599		1353	2809	4162	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30249C>A	2.37:g.179560599G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V9156	ENST00000591111.1	37	c.27468		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179560599	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.999	T	T	179560599	G	T	179560599	2	4	131	1	0	0	0	0	0	0	0	1	16766	929	33	3		3	TTN	2	179560599	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	10324	179560599	63638774	300	20440										
TTN	7273	genome.wustl.edu	37	chr2	179579122	179579122	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccactcttgaaaactgtaaGgttgcaatgttttctgaata	7	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179579122G>T	ENST00000591111.1	-	89	25652	c.25428C>A	c.(25426-25428)acC>acA	p.T8476T	TTN_ENST00000342992.6_Silent_p.T7549T|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.T8793T			Q8WZ42	TITIN_HUMAN	titin	12644	Ig-like 67.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAACTGTAAGGTTGCAATGT	0.428																																																	0													98	93	95					2																	179579122		1859	4099	5958	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25428C>A	2.37:g.179579122G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T7549	ENST00000591111.1	37	c.22647		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179579122	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.817	T	T	179579122	G	T	179579122	2	4	131	1	0	0	0	0	0	0	0	1	16766	987	35	4		4	TTN	2	179579122	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	18523	179579122	63620251	301	20441										
TTN	7273	genome.wustl.edu	37	chr2	179584978	179584978	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgtcacttagctttttcacGaatcgtggaggttctgatga	11	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179584978G>A	ENST00000591111.1	-	79	22664	c.22440C>T	c.(22438-22440)ttC>ttT	p.F7480F	TTN_ENST00000342992.6_Silent_p.F6553F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.F7797F			Q8WZ42	TITIN_HUMAN	titin	13036	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTTTCACGAATCGTGGAG	0.438																																																	0													95	87	90					2																	179584978		1863	4105	5968	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22440C>T	2.37:g.179584978G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F6553	ENST00000591111.1	37	c.19659		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179584978	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179584978	G	A	179584978	2	1	131	1	0	0	0	0	0	0	0	1	16766	1049	37	1		1	TTN	2	179584978	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5856	179584978	63614395	302	20442										
TTN	7273	genome.wustl.edu	37	chr2	179594406	179594406	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgaacctttcactttgagttCaatgctgcagctcgccgtgc	9	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179594406C>A	ENST00000591111.1	-	61	17847	c.17623G>T	c.(17623-17625)Gaa>Taa	p.E5875*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E4948*|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E6192*			Q8WZ42	TITIN_HUMAN	titin	12674	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTGAGTTCAATGCTGCAG	0.468																																																	0													134	129	130					2																	179594406		1929	4150	6079	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17623G>T	2.37:g.179594406C>A	ENSP00000465570:p.Glu5875*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E4948*	ENST00000591111.1	37	c.14842		2	.	.	.	.	.	.	.	.	.	.	C	56	25.870742	0.99966	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6684	0.88209	0.0:0.877:0.1229:0.0	.	.	.	.	X	4948	.	ENSP00000343764:E4948X	E	-	1	0	TTN	179302651	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.576000	0.60915	1.616000	0.50265	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179594406	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	179594406	C	A	179594406	4	1	131	1	0	0	0	0	0	1	0	0	16766	835	29	3	86155	3	TTN	2	179594406	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9428	179594406	63604967	303	20443										
TTN	7273	genome.wustl.edu	37	chr2	179595343	179595343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgatttccaagaaggcagTattgtcatgaaaagagaatt	10	5	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179595343T>C	ENST00000591111.1	-	59	17190	c.16966A>G	c.(16966-16968)Act>Gct	p.T5656A	TTN_ENST00000342992.6_Missense_Mutation_p.T4729A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5973A			Q8WZ42	TITIN_HUMAN	titin	12465	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAAGGCAGTATTGTCATGA	0.443																																																	0													120	117	118					2																	179595343		1898	4131	6029	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16966A>G	2.37:g.179595343T>C	ENSP00000465570:p.Thr5656Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T4729A	ENST00000591111.1	37	c.14185		2	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475878	0.26511	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66896	0.2836	L	0.61218	1.895	0.80722	D	1	B	0.17465	0.022	B	0.17433	0.018	T	0.64744	-0.6335	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	5656	Q8WZ42	TITIN_HUMAN	A	4729	ENSP00000343764:T4729A	ENSP00000343764:T4729A	T	-	1	0	TTN	179303588	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.064000	0.71169	2.291000	0.77112	0.533000	0.62120	ACT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179595343	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.998	C	C	179595343	T	C	179595343	3	2	131	1	0	0	0	0	1	0	0	0	16766	1638	57	5	86820	5	TTN	2	179595343	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	937	179595343	63604030	304	20444										
TTN	7273	genome.wustl.edu	37	chr2	179595731	179595731	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtatattctccactatctttCttttctgtagaaataatctt	3	8	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179595731C>A	ENST00000591111.1	-	58	16934	c.16710G>T	c.(16708-16710)aaG>aaT	p.K5570N	TTN_ENST00000342992.6_Missense_Mutation_p.K4643N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K5887N			Q8WZ42	TITIN_HUMAN	titin	12387	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATCTTTCTTTTCTGTAG	0.378																																																	0													166	162	164					2																	179595731		1859	4101	5960	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16710G>T	2.37:g.179595731C>A	ENSP00000465570:p.Lys5570Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K4643N	ENST00000591111.1	37	c.13929		2	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085203	0.20390	.	.	ENSG00000155657	ENST00000342992	T	0.43688	0.94	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64494	0.2603	M	0.62266	1.93	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.64728	-0.6339	9	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	5570	Q8WZ42	TITIN_HUMAN	N	4643	ENSP00000343764:K4643N	ENSP00000343764:K4643N	K	-	3	2	TTN	179303976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.157000	0.42320	2.771000	0.95319	0.563000	0.77884	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179595731	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179595731	C	A	179595731	3	1	131	1	0	0	0	0	1	0	0	0	16766	912	32	3	87080	3	TTN	2	179595731	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	388	179595731	63603642	305	20445										
TTN	7273	genome.wustl.edu	37	chr2	179599566	179599566	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaattgacaaaatacattcGgactgtgttactttcactga	7	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179599566G>A	ENST00000591111.1	-	49	14358	c.14134C>T	c.(14134-14136)Cga>Tga	p.R4712*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R3785*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R5029*			Q8WZ42	TITIN_HUMAN	titin	12092	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATACATTCGGACTGTGTTA	0.418																																																	0													98	92	94					2																	179599566		1872	4101	5973	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14134C>T	2.37:g.179599566G>A	ENSP00000465570:p.Arg4712*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R3785*	ENST00000591111.1	37	c.11353		2	.	.	.	.	.	.	.	.	.	.	G	53	21.168747	0.99938	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.89	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.50813	D	0.999899	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7485	0.77965	0.0:0.0:0.2694:0.7306	.	.	.	.	X	3785	.	ENSP00000343764:R3785X	R	-	1	2	TTN	179307811	1.000000	0.71417	0.526000	0.27913	0.950000	0.60333	2.122000	0.41987	0.324000	0.23333	0.655000	0.94253	CGA	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179599566	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.687	A	A	179599566	G	A	179599566	4	1	131	1	0	0	0	0	0	1	0	0	16766	1124	39	2	89692	2	TTN	2	179599566	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3835	179599566	63599807	306	20446										
TTN	7273	genome.wustl.edu	37	chr2	179606229	179606229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgtgaccctctcctttggAattaatttttagataggcac	7	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179606229A>C	ENST00000591111.1	-	46	11004	c.10780T>G	c.(10780-10782)Tcc>Gcc	p.S3594A	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3548A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3673A|TTN_ENST00000342175.6_Missense_Mutation_p.S3740A|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S3911A			Q8WZ42	TITIN_HUMAN	titin	13912					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCTTTGGAATTAATTTTT	0.418																																																	0													128	123	125					2																	179606229		1890	4106	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10780T>G	2.37:g.179606229A>C	ENSP00000465570:p.Ser3594Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S3740A	ENST00000591111.1	37	c.11218		2	.	.	.	.	.	.	.	.	.	.	A	5.350	0.249814	0.10130	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.39592	1.07;1.07;1.07	5.69	-3.11	0.05299	.	.	.	.	.	T	0.29945	0.0749	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.31138	-0.9954	9	0.87932	D	0	.	15.5896	0.76517	0.2494:0.0:0.7506:0.0	.	3548;3673;3740	D3DPF9;E7EQE6;E7ET18	.;.;.	A	3548;3740;3673;3548	ENSP00000434586:S3548A;ENSP00000340554:S3740A;ENSP00000352154:S3673A	ENSP00000340554:S3740A	S	-	1	0	TTN	179314474	0.000000	0.05858	0.079000	0.20413	0.195000	0.23768	-0.046000	0.11983	-0.440000	0.07211	0.533000	0.62120	TCC	TTN	-	superfamily_RNaseH-like_dom		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179606229	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	missense	SNP	0.006	C	C	179606229	A	C	179606229	3	2	131	1	0	0	0	0	1	0	0	0	16766	246	9	5	93058	5	TTN	2	179606229	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	6663	179606229	63593144	307	20447										
TTN	7273	genome.wustl.edu	37	chr2	179612456	179612456	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagtggtatgtgcctcatCtaatttaggaatattttgag	9	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179612456C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D4891N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGCCTCATCTAATTTAGGA	0.378																																																	0													61	62	61					2																	179612456		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5394G>A	2.37:g.179612456C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D4891N	ENST00000591111.1	37	c.14671		2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224903	0.39300	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57752	0.38	5.75	2.76	0.32466	.	.	.	.	.	T	0.37019	0.0988	N	0.25647	0.755	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.20940	-1.0260	9	0.46703	T	0.11	.	7.3963	0.26938	0.0:0.5797:0.3018:0.1185	.	4891	Q8WZ42-6	.	N	4891;205	ENSP00000354117:D4891N	ENSP00000304714:D205N	D	-	1	0	TTN	179320701	0.032000	0.19561	0.039000	0.18376	0.125000	0.20455	0.620000	0.24403	1.532000	0.49169	0.650000	0.86243	GAT	TTN	-	NULL		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179612456	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.033	T	T	179612456	C	T	179612456	1	4	131	0	1	0	0	0	0	0	0	0	16766	913	32	1		1	TTN	2	179612456	Intron	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6227	179612456	63586917	308	20448										
FRZB	2487	genome.wustl.edu	37	chr2	183699692	183699692	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgaagcttcatatcccagcGctgtgaaatttaaaatagaa	7	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:183699692G>A	ENST00000295113.4	-	6	1471	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			ATATCCCAGCGCTGTGAAATT	0.428																																																	0													73	71	72					2																	183699692		2203	4300	6503	SO:0001630	splice_region_variant	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.862-1C>T	2.37:g.183699692G>A			O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R288C	ENST00000295113.4	37	c.862	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170549	0.78452	.	.	ENSG00000162998	ENST00000295113	T	0.26223	1.75	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.45891	-0.9230	10	0.87932	D	0	.	19.628	0.95687	0.0:0.0:1.0:0.0	.	288	Q92765	SFRP3_HUMAN	C	288	ENSP00000295113:R288C	ENSP00000295113:R288C	R	-	1	0	FRZB	183407937	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.778000	0.75043	2.648000	0.89879	0.650000	0.86243	CGC	FRZB	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.428	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	G	NM_001463	Missense_Mutation	183699692	-1	no_errors	ENST00000295113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183699692	G	A	183699692	5	1	131	1	0	0	0	0	0	0	1	0	6083	1101	38	2	119	2	FRZB	2	183699692	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4087236	183699692	59499681	309	20449										
ZNF804A	91752	genome.wustl.edu	37	chr2	185802173	185802173	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaatactgaatacaacactTatgatactatcagttctaaa	5	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:185802173T>G	ENST00000302277.6	+	4	2644	c.2050T>G	c.(2050-2052)Tat>Gat	p.Y684D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	684							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATACAACACTTATGATACTAT	0.308																																																	0													80	80	80					2																	185802173		2202	4294	6496	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2050T>G	2.37:g.185802173T>G	ENSP00000303252:p.Tyr684Asp		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Y684D	ENST00000302277.6	37	c.2050	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	T	0.048	-1.260923	0.01445	.	.	ENSG00000170396	ENST00000302277	T	0.04862	3.54	4.84	-0.532	0.11890	.	0.863730	0.09864	N	0.745875	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48980	-0.8986	10	0.12430	T	0.62	-1.005	5.0567	0.14537	0.548:0.0:0.3121:0.1399	.	684	Q7Z570	Z804A_HUMAN	D	684	ENSP00000303252:Y684D	ENSP00000303252:Y684D	Y	+	1	0	ZNF804A	185510418	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.323000	0.19593	-0.010000	0.14271	-0.339000	0.08088	TAT	ZNF804A	-	NULL		0.308	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	T	NM_194250		185802173	1	no_errors	ENST00000302277	ensembl	human	known	70_37	missense	SNP	0.000	G	G	185802173	T	G	185802173	3	3	131	1	0	0	0	0	1	0	0	0	18200	1754	61	5	2064	5	ZNF804A	2	185802173	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2102481	185802173	57397200	310	20450										
FSIP2	401024	genome.wustl.edu	37	chr2	186669523	186669523	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgactgatgaaattataaaaGaaatttctgaacatgagatt	7	3	1	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:186669523G>T	ENST00000424728.1	+	17	15490	c.15490G>T	c.(15490-15492)Gaa>Taa	p.E5164*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E5253*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5164										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTATAAAAGAAATTTCTGA	0.353																																																	0																																										SO:0001587	stop_gained	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15490G>T	2.37:g.186669523G>T	ENSP00000401306:p.Glu5164*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.E5253*	ENST00000424728.1	37	c.15757		2	.	.	.	.	.	.	.	.	.	.	G	56	25.815376	0.99966	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.7114	0.62670	0.0:0.0:1.0:0.0	.	.	.	.	X	5253;5164	.	ENSP00000344403:E5253X	E	+	1	0	FSIP2	186377768	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.137000	0.50562	2.611000	0.88343	0.585000	0.79938	GAA	FSIP2	-	NULL		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186669523	1	no_errors	ENST00000343098	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	186669523	G	T	186669523	4	4	131	1	0	0	0	0	0	1	0	0	6093	943	33	3	15823	3	FSIP2	2	186669523	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	867350	186669523	56529850	311	20451										
ZSWIM2	151112	genome.wustl.edu	37	chr2	187693353	187693353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaataaaaagatctggttcTttctgctttgatagatgaat	9	4	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:187693353T>G	ENST00000295131.2	-	9	1299	c.1260A>C	c.(1258-1260)aaA>aaC	p.K420N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	420					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GATCTGGTTCTTTCTGCTTTG	0.323																																																	0													76	78	77					2																	187693353		2203	4300	6503	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1260A>C	2.37:g.187693353T>G	ENSP00000295131:p.Lys420Asn		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.K420N	ENST00000295131.2	37	c.1260	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292837	0.23564	.	.	ENSG00000163012	ENST00000295131	T	0.22945	1.93	5.3	1.34	0.21922	.	0.494039	0.18897	N	0.128155	T	0.10766	0.0263	N	0.08118	0	0.21355	N	0.999716	B	0.17667	0.023	B	0.14023	0.01	T	0.19418	-1.0306	10	0.40728	T	0.16	-6.4395	4.9854	0.14187	0.0:0.1688:0.1556:0.6756	.	420	Q8NEG5	ZSWM2_HUMAN	N	420	ENSP00000295131:K420N	ENSP00000295131:K420N	K	-	3	2	ZSWIM2	187401598	0.935000	0.31712	0.970000	0.41538	0.408000	0.30992	0.926000	0.28804	0.419000	0.25927	0.482000	0.46254	AAA	ZSWIM2	-	NULL		0.323	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	T	NM_182521		187693353	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	missense	SNP	0.896	G	G	187693353	T	G	187693353	3	3	131	1	0	0	0	0	1	0	0	0	18271	1606	56	5	645	5	ZSWIM2	2	187693353	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1023830	187693353	55506020	312	20452										
PMS1	5378	genome.wustl.edu	37	chr2	190660497	190660497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttttgacattttataggaGaactatggatttgataaaat	7	2	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:190660497G>T	ENST00000441310.2	+	3	368	c.135G>T	c.(133-135)gaG>gaT	p.E45D	PMS1_ENST00000447232.2_Missense_Mutation_p.E45D|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000374826.4_Missense_Mutation_p.E45D|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409985.1_Missense_Mutation_p.E45D|PMS1_ENST00000409823.3_Missense_Mutation_p.E45D	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	45					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTTTATAGGAGAACTATGGAT	0.313			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													53	54	54					2																	190660497		2203	4300	6503	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.135G>T	2.37:g.190660497G>T	ENSP00000406490:p.Glu45Asp		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.E45D	ENST00000441310.2	37	c.135	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119540	0.77323	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232;ENST00000420421	D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.8	0.0162	0.14107	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.043248	0.85682	D	0.000000	D	0.95674	0.8593	M	0.72353	2.195	0.80722	D	1	P;B;B;P;P;P;P	0.46395	0.877;0.363;0.211;0.872;0.771;0.771;0.771	P;B;B;P;P;P;P	0.61397	0.809;0.38;0.208;0.888;0.753;0.753;0.753	D	0.93870	0.7161	10	0.49607	T	0.09	-12.2907	11.9305	0.52843	0.4231:0.0:0.5769:0.0	.	45;45;45;45;45;45;45	B4DMF4;E9PC40;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	D	45	ENSP00000406490:E45D;ENSP00000386623:E45D;ENSP00000387125:E45D;ENSP00000363959:E45D;ENSP00000410082:E45D;ENSP00000401064:E45D;ENSP00000391136:E45D	ENSP00000343888:E45D	E	+	3	2	PMS1	190368742	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	0.727000	0.25999	0.057000	0.16193	-0.355000	0.07637	GAG	PMS1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N		0.313	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	G			190660497	1	no_errors	ENST00000441310	ensembl	human	known	70_37	missense	SNP	0.999	T	T	190660497	G	T	190660497	3	4	131	1	0	0	0	0	1	0	0	0	12166	933	33	3	141	3	PMS1	2	190660497	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2967144	190660497	52538876	313	20453										
PMS1	5378	genome.wustl.edu	37	chr2	190738302	190738302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggagtagcagatttaaaaGaaattcttaatgctatatta	7	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:190738302G>T	ENST00000441310.2	+	12	2787	c.2554G>T	c.(2554-2556)Gaa>Taa	p.E852*	PMS1_ENST00000432292.3_Nonsense_Mutation_p.E676*|PMS1_ENST00000418224.3_Nonsense_Mutation_p.E676*|PMS1_ENST00000409823.3_Nonsense_Mutation_p.E813*|PMS1_ENST00000447232.2_Nonsense_Mutation_p.E690*	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	852					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGATTTAAAAGAAATTCTTAA	0.284			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													43	49	47					2																	190738302		2203	4298	6501	SO:0001587	stop_gained	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2554G>T	2.37:g.190738302G>T	ENSP00000406490:p.Glu852*		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.E852*	ENST00000441310.2	37	c.2554	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.270214	0.98735	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	.	.	.	5.97	5.97	0.96955	.	0.090430	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.8304	20.4251	0.99070	0.0:0.0:1.0:0.0	.	.	.	.	X	852;676;813;690;676;475;240	.	ENSP00000387169:E475X	E	+	1	0	PMS1	190446547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.079000	0.76829	2.829000	0.97493	0.650000	0.86243	GAA	PMS1	-	NULL		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	G			190738302	1	no_errors	ENST00000441310	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	190738302	G	T	190738302	4	4	131	1	0	0	0	0	0	1	0	0	12166	943	33	3	2596	3	PMS1	2	190738302	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	77805	190738302	52461071	314	20454										
DNAH7	56171	genome.wustl.edu	37	chr2	196636535	196636535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctcgatgtcgaagttgtttGgaagtttgcccaagatgtca	11	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:196636535G>T	ENST00000312428.6	-	61	11382	c.11282C>A	c.(11281-11283)cCa>cAa	p.P3761Q	DNAH7_ENST00000409063.1_Missense_Mutation_p.P244Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3761					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAGTTGTTTGGAAGTTTGCC	0.448																																																	0													267	246	253					2																	196636535		2016	4166	6182	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11282C>A	2.37:g.196636535G>T	ENSP00000311273:p.Pro3761Gln		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.P3761Q	ENST00000312428.6	37	c.11282	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663831	0.88251	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09255	3.0;3.0	5.08	5.08	0.68730	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74575	-0.3620	10	0.87932	D	0	.	18.2425	0.89971	0.0:0.0:1.0:0.0	.	3761	Q8WXX0	DYH7_HUMAN	Q	3761;244	ENSP00000311273:P3761Q;ENSP00000386912:P244Q	ENSP00000311273:P3761Q	P	-	2	0	DNAH7	196344780	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.963000	0.76055	2.630000	0.89119	0.655000	0.94253	CCA	DNAH7	-	pfam_Dynein_heavy_dom		0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196636535	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	T	T	196636535	G	T	196636535	3	4	131	1	0	0	0	0	1	0	0	0	4616	1348	47	4	812	4	DNAH7	2	196636535	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5898233	196636535	46562838	315	20455										
RFTN2	130132	genome.wustl.edu	37	chr2	198480650	198480650	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgcttgtcagaagccatccGaattcagccagagtgtgcag	11	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:198480650G>A	ENST00000295049.4	-	7	1640	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	368					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.F368F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GAAGCCATCCGAATTCAGCCA	0.403																																																	1	Substitution - coding silent(1)	large_intestine(1)											88	73	78					2																	198480650		2201	4289	6490	SO:0001819	synonymous_variant	130132			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1104C>T	2.37:g.198480650G>A			Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	NULL	p.F368	ENST00000295049.4	37	c.1104	CCDS2323.1	2																																																																																			RFTN2	-	NULL		0.403	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	HGNC	protein_coding	OTTHUMT00000256106.2	G	NM_144629		198480650	-1	no_errors	ENST00000295049	ensembl	human	known	70_37	silent	SNP	0.996	A	A	198480650	G	A	198480650	2	1	131	1	0	0	0	0	0	0	0	1	13289	1049	37	1		1	RFTN2	2	198480650	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1844115	198480650	44718723	316	20456										
KCTD18	130535	genome.wustl.edu	37	chr2	201362513	201362513	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaaaggcatccatcattttCttcaactctgctactgaata	4	11	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201362513C>A	ENST00000359878.3	-	5	1134	c.624G>T	c.(622-624)aaG>aaT	p.K208N	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.K208N	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	208					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCATCATTTTCTTCAACTCTG	0.348																																																	0													186	185	185					2																	201362513		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.624G>T	2.37:g.201362513C>A	ENSP00000352941:p.Lys208Asn		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.K208N	ENST00000359878.3	37	c.624	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312814	0.81358	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	D;D	0.97352	-4.35;-4.35	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000003	D	0.96516	0.8863	L	0.32530	0.975	0.38623	D	0.951191	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.95672	0.8724	10	0.87932	D	0	-27.8394	6.8464	0.23990	0.0:0.7971:0.0:0.2029	.	208;208	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	N	208	ENSP00000352941:K208N;ENSP00000386751:K208N	ENSP00000352941:K208N	K	-	3	2	KCTD18	201070758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.045000	0.49838	2.780000	0.95670	0.655000	0.94253	AAG	KCTD18	-	NULL		0.348	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	C	NM_152387		201362513	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201362513	C	A	201362513	3	1	131	1	0	0	0	0	1	0	0	0	8125	912	32	3	668	3	KCTD18	2	201362513	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2881863	201362513	41836860	317	20457										
AOX1	316	genome.wustl.edu	37	chr2	201485959	201485959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaagctgagaaatttctggCgacagataaggtactgcatt	11	6	1	3	rs146370823		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201485959C>T	ENST00000374700.2	+	18	2232	c.1991C>T	c.(1990-1992)gCg>gTg	p.A664V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	664					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAATTTCTGGCGACAGATAAG	0.403													C|||	1	0.000199681	0	0.0014	5008	,	,		18544	0		0	False		,,,				2504	0																0								C	VAL/ALA	0,4406		0,0,2203	140	135	137		1991	-0.5	0	2	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	AOX1	NM_001159.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	664/1339	201485959	1,13005	2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1991C>T	2.37:g.201485959C>T	ENSP00000363832:p.Ala664Val		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.A664V	ENST00000374700.2	37	c.1991	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206491	0.39003	0.0	1.16E-4	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.49	-0.516	0.11950	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.598136	0.17812	N	0.161182	T	0.26919	0.0659	M	0.80508	2.5	0.40610	D	0.981669	P	0.34977	0.478	B	0.37780	0.258	T	0.04961	-1.0915	10	0.46703	T	0.11	-13.7543	3.4468	0.07483	0.1938:0.5594:0.1025:0.1443	.	664	Q06278	ADO_HUMAN	V	664	ENSP00000363832:A664V	ENSP00000363832:A664V	A	+	2	0	AOX1	201194204	0.384000	0.25164	0.011000	0.14972	0.050000	0.14768	0.788000	0.26872	-0.334000	0.08463	-0.128000	0.14901	GCG	AOX1	-	pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.403	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	C	NM_001159		201485959	1	no_errors	ENST00000374700	ensembl	human	known	70_37	missense	SNP	0.240	T	T	201485959	C	T	201485959	3	4	131	1	0	0	0	0	1	0	0	0	729	768	27	2	2061	2	AOX1	2	201485959	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	123446	201485959	41713414	318	20458										
CLK1	1195	genome.wustl.edu	37	chr2	201721630	201721630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttactattttgggattatacGcctctgtgtagtcagactgc	9	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201721630G>A	ENST00000321356.4	-	8	1046	c.911C>T	c.(910-912)gCg>gTg	p.A304V	CLK1_ENST00000434813.2_Missense_Mutation_p.A346V|CLK1_ENST00000409769.2_Missense_Mutation_p.A127V	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGGATTATACGCCTCTGTGTA	0.338																																																	0													107	109	109					2																	201721630		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.911C>T	2.37:g.201721630G>A	ENSP00000326830:p.Ala304Val		B4DFW7|Q0P694|Q8N5V8	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.A304V	ENST00000321356.4	37	c.911	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	G	2.944	-0.218306	0.06101	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.68903	-0.22;-0.36;-0.24	5.21	0.683	0.17998	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.557663	0.20726	N	0.086816	T	0.36193	0.0958	N	0.11255	0.115	0.09310	N	1	B;B;B;B	0.11235	0.004;0.0;0.002;0.002	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.07673	-1.0760	10	0.18710	T	0.47	.	2.1479	0.03791	0.2434:0.105:0.4773:0.1744	.	346;274;304;127	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	V	304;274;127;346	ENSP00000326830:A304V;ENSP00000386358:A127V;ENSP00000394734:A346V	ENSP00000326830:A304V	A	-	2	0	CLK1	201429875	0.002000	0.14202	0.564000	0.28396	0.837000	0.47467	1.276000	0.33156	0.311000	0.23014	-0.350000	0.07774	GCG	CLK1	-	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		0.338	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	G			201721630	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	0.001	A	A	201721630	G	A	201721630	3	1	131	1	0	0	0	0	1	0	0	0	3541	1087	38	2	567	2	CLK1	2	201721630	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	235671	201721630	41477743	319	20459										
PPIL3	53938	genome.wustl.edu	37	chr2	201750451	201750451	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgggtgtcctctcacagaaGacttcaattttaatatcacc	6	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201750451G>T	ENST00000392283.4	-	3	316	c.48C>A	c.(46-48)gtC>gtA	p.V16V	PPIL3_ENST00000465823.1_5'UTR|PPIL3_ENST00000409449.1_Silent_p.V16V|PPIL3_ENST00000409361.1_Silent_p.V16V|PPIL3_ENST00000286175.8_Silent_p.V16V	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	16	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						TCTCACAGAAGACTTCAATTT	0.318																																																	0													147	137	140					2																	201750451		2203	4299	6502	SO:0001819	synonymous_variant	53938			AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"Cyclophilin J"	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.48C>A	2.37:g.201750451G>T			Q86WF9|Q96IA9|Q9BXZ1	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V16	ENST00000392283.4	37	c.48	CCDS2333.1	2																																																																																			PPIL3	-	superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.318	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL3	HGNC	protein_coding	OTTHUMT00000256190.3	G			201750451	-1	no_errors	ENST00000286175	ensembl	human	known	70_37	silent	SNP	0.996	T	T	201750451	G	T	201750451	2	4	131	1	0	0	0	0	0	0	0	1	12355	929	33	3		3	PPIL3	2	201750451	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	28821	201750451	41448922	320	20460										
ALS2CR11	151254	genome.wustl.edu	37	chr2	202356819	202356819	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctgtaagggaaaatatttCttttctttctctcgaatcaa	5	7	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:202356819C>A	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.K1415N	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GAAAATATTTCTTTTCTTTCT	0.289																																																	0													97	81	86					2																	202356819		692	1589	2281	SO:0001627	intron_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+3798G>T	2.37:g.202356819C>A			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K1415N	ENST00000286195.3	37	c.4245	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	3.895	-0.023249	0.07634	.	.	ENSG00000155754	ENST00000439140	T	0.57107	0.42	5.07	-3.82	0.04281	.	.	.	.	.	T	0.22781	0.0550	N	0.11255	0.115	0.09310	N	0.999995	B	0.14012	0.009	B	0.12156	0.007	T	0.14090	-1.0485	9	0.22109	T	0.4	.	0.0517	0.00012	0.3238:0.1787:0.2124:0.2851	.	1415	E9PGG4	.	N	1415	ENSP00000409937:K1415N	ENSP00000409937:K1415N	K	-	3	2	ALS2CR11	202065064	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.411000	0.01040	-1.178000	0.02741	-1.176000	0.01726	AAG	ALS2CR11	-	NULL		0.289	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202356819	-1	no_errors	ENST00000439140	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	202356819	C	A	202356819	1	1	131	0	1	0	0	0	0	0	0	0	552	912	32	3		3	ALS2CR11	2	202356819	Intron	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	606368	202356819	40842554	321	20461										
ALS2CR4	65062	genome.wustl.edu	37	chr2	202492840	202492840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatccagggccaaaaaatttCggattgctactgatatttta	8	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:202492840C>T	ENST00000409883.2	-	10	1018	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	TMEM237_ENST00000409444.2_Missense_Mutation_p.R293Q|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	301					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CAAAAAATTTCGGATTGCTAC	0.323																																																	0													52	50	50					2																	202492840		1814	4072	5886	SO:0001583	missense	65062			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.902G>A	2.37:g.202492840C>T	ENSP00000386264:p.Arg301Gln		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.R301Q	ENST00000409883.2	37	c.902	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773231	0.90108	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.38	4.5	0.54988	.	0.161524	0.49916	N	0.000136	T	0.76564	0.4005	M	0.68952	2.095	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79024	-0.1972	9	0.72032	D	0.01	-5.6558	13.7138	0.62685	0.0:0.9261:0.0:0.0739	.	301;325	E9PAR8;Q96Q45	.;TM237_HUMAN	Q	293;301;301;323;206	.	ENSP00000386949:R206Q	R	-	2	0	TMEM237	202201085	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.610000	0.54125	1.263000	0.44181	0.563000	0.77884	CGA	TMEM237	-	NULL		0.323	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	C	NM_152388		202492840	-1	no_errors	ENST00000409883	ensembl	human	known	70_37	missense	SNP	1.000	T	T	202492840	C	T	202492840	3	4	131	1	0	0	0	0	1	0	0	0	554	884	31	1	340	1	ALS2CR4	2	202492840	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	136021	202492840	40706533	322	20462										
NOP58	51602	genome.wustl.edu	37	chr2	203160408	203160408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttttgtaggttctcttttaAatttggccaagcatgcagct	8	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:203160408A>C	ENST00000264279.5	+	10	1145	c.919A>C	c.(919-921)Aat>Cat	p.N307H	SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	307	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TTCTCTTTTAAATTTGGCCAA	0.388																																																	0													102	113	110					2																	203160408		2203	4300	6503	SO:0001583	missense	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.919A>C	2.37:g.203160408A>C	ENSP00000264279:p.Asn307His		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.N307H	ENST00000264279.5	37	c.919	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660980	0.88154	.	.	ENSG00000055044	ENST00000264279	T	0.78924	-1.22	6.17	6.17	0.99709	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.088841	0.85682	D	0.000000	D	0.93051	0.7788	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95525	0.8598	10	0.87932	D	0	-12.8649	16.8222	0.85835	1.0:0.0:0.0:0.0	.	307	Q9Y2X3	NOP58_HUMAN	H	307	ENSP00000264279:N307H	ENSP00000264279:N307H	N	+	1	0	NOP58	202868653	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.953000	0.93041	2.371000	0.80710	0.533000	0.62120	AAT	NOP58	-	pfam_SnoRNA-bd_dom		0.388	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	A	NM_015934		203160408	1	no_errors	ENST00000264279	ensembl	human	known	70_37	missense	SNP	1.000	C	C	203160408	A	C	203160408	3	2	131	1	0	0	0	0	1	0	0	0	10564	14	1	5	957	5	NOP58	2	203160408	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	667568	203160408	40038965	323	20463										
BMPR2	659	genome.wustl.edu	37	chr2	203395585	203395585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctagtgaaaaatgatggaAcctgtgttattagtgacttt	9	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:203395585A>G	ENST00000374580.4	+	8	1575	c.1036A>G	c.(1036-1038)Acc>Gcc	p.T346A	BMPR2_ENST00000374574.2_Missense_Mutation_p.T346A	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAATGATGGAACCTGTGTTAT	0.403																																																	0													91	92	92					2																	203395585		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1036A>G	2.37:g.203395585A>G	ENSP00000363708:p.Thr346Ala		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T346A	ENST00000374580.4	37	c.1036	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108830	0.37242	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	T;T	0.65178	-0.14;-0.14	5.7	1.96	0.26148	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248788	0.46442	N	0.000281	T	0.55065	0.1897	M	0.70275	2.135	0.43080	D	0.994733	B;B	0.13145	0.002;0.007	B;B	0.16289	0.003;0.015	T	0.52109	-0.8619	10	0.54805	T	0.06	.	5.1539	0.15025	0.7236:0.0:0.1436:0.1328	.	346;346	Q13161;Q13873	.;BMPR2_HUMAN	A	346	ENSP00000363708:T346A;ENSP00000363702:T346A	ENSP00000363702:T346A	T	+	1	0	BMPR2	203103830	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.527000	0.45615	0.394000	0.25230	-0.403000	0.06358	ACC	BMPR2	-	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		0.403	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	A	NM_001204		203395585	1	no_errors	ENST00000374580	ensembl	human	known	70_37	missense	SNP	0.998	G	G	203395585	A	G	203395585	3	3	131	1	0	0	0	0	1	0	0	0	1472	43	2	5	1066	5	BMPR2	2	203395585	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	235177	203395585	39803788	324	20464										
NBEAL1	65065	genome.wustl.edu	37	chr2	204016230	204016230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagctagctaatgtagagaaTtattcccgcatgagacttaa	8	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:204016230T>G	ENST00000449802.1	+	34	5751	c.5418T>G	c.(5416-5418)aaT>aaG	p.N1806K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1806										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGTAGAGAATTATTCCCGCA	0.348																																																	0													85	79	81					2																	204016230		1823	4076	5899	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5418T>G	2.37:g.204016230T>G	ENSP00000399903:p.Asn1806Lys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1806K	ENST00000449802.1	37	c.5418	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258652	0.59321	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55234	0.53	5.04	2.66	0.31614	.	0.050947	0.85682	D	0.000000	T	0.68467	0.3004	M	0.81497	2.545	0.48135	D	0.999594	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.68119	-0.5493	10	0.59425	D	0.04	.	7.5447	0.27759	0.0:0.2916:0.0:0.7084	.	1806;1795	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	K	1806	ENSP00000399903:N1806K	ENSP00000344985:N1806K	N	+	3	2	NBEAL1	203724475	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	0.777000	0.26718	0.772000	0.33382	-0.466000	0.05196	AAT	NBEAL1	-	NULL		0.348	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	T			204016230	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204016230	T	G	204016230	3	3	131	1	0	0	0	0	1	0	0	0	10211	1490	52	5	5548	5	NBEAL1	2	204016230	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	620645	204016230	39183143	325	20465										
RAPH1	65059	genome.wustl.edu	37	chr2	204360053	204360053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttcagcaccatgatcaatTtcttcatctgatagctgctc	5	12	6	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:204360053T>G	ENST00000319170.5	-	2	323	c.24A>C	c.(22-24)gaA>gaC	p.E8D	RAPH1_ENST00000419464.1_Missense_Mutation_p.E8D|RAPH1_ENST00000453034.1_Missense_Mutation_p.E8D|RAPH1_ENST00000423104.1_Missense_Mutation_p.E8D|RAPH1_ENST00000439222.1_Missense_Mutation_p.E8D|RAPH1_ENST00000374493.3_Missense_Mutation_p.E8D|RAPH1_ENST00000308091.4_Missense_Mutation_p.E8D|RAPH1_ENST00000374489.2_Missense_Mutation_p.E8D|RAPH1_ENST00000418114.1_Missense_Mutation_p.E8D|RAPH1_ENST00000457812.1_Missense_Mutation_p.E8D|RAPH1_ENST00000374488.2_Missense_Mutation_p.E8D	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	8					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATGATCAATTTCTTCATCTG	0.393																																																	0													151	138	142					2																	204360053		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.24A>C	2.37:g.204360053T>G	ENSP00000316543:p.Glu8Asp		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.E8D	ENST00000319170.5	37	c.24	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435639	0.62955	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.68;0.68;0.64;0.64;0.66;0.66;0.66;0.68;0.64;0.66;0.67	5.79	4.64	0.57946	.	0.000000	0.52532	D	0.000064	T	0.60753	0.2293	L	0.53249	1.67	0.40603	D	0.9816	P;D;D	0.69078	0.866;0.994;0.997	P;D;D	0.72625	0.594;0.97;0.978	T	0.63528	-0.6617	10	0.87932	D	0	-26.1313	9.7906	0.40704	0.0:0.145:0.0:0.855	.	8;8;8	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	D	8	ENSP00000392854:E8D;ENSP00000316543:E8D;ENSP00000363617:E8D;ENSP00000363613:E8D;ENSP00000363612:E8D;ENSP00000311293:E8D;ENSP00000411138:E8D;ENSP00000390578:E8D;ENSP00000397751:E8D;ENSP00000406662:E8D;ENSP00000396711:E8D	ENSP00000311293:E8D	E	-	3	2	RAPH1	204068298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.842000	0.27627	1.036000	0.39998	0.459000	0.35465	GAA	RAPH1	-	NULL		0.393	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	T	NM_025252		204360053	-1	no_errors	ENST00000374493	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204360053	T	G	204360053	3	3	131	1	0	0	0	0	1	0	0	0	13080	1838	64	5	3951	5	RAPH1	2	204360053	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	343823	204360053	38839320	326	20466										
ZDBF2	57683	genome.wustl.edu	37	chr2	207174601	207174601	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttctgacttgaaagaaaaGaaccatgattcccagtcaag	7	9	3	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207174601G>T	ENST00000374423.3	+	5	5735	c.5349G>T	c.(5347-5349)aaG>aaT	p.K1783N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1783							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAAAGAAAAGAACCATGATT	0.413																																																	0													60	61	61					2																	207174601		1857	4109	5966	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5349G>T	2.37:g.207174601G>T	ENSP00000363545:p.Lys1783Asn		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.K1783N	ENST00000374423.3	37	c.5349	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729490	0.15507	.	.	ENSG00000204186	ENST00000374423	T	0.46063	0.88	4.64	-4.95	0.03048	.	.	.	.	.	T	0.19446	0.0467	N	0.22421	0.69	0.09310	N	1	B	0.26744	0.158	B	0.19391	0.025	T	0.16247	-1.0409	9	0.28530	T	0.3	.	1.8272	0.03123	0.482:0.1007:0.1846:0.2327	.	1783	Q9HCK1	ZDBF2_HUMAN	N	1783	ENSP00000363545:K1783N	ENSP00000363545:K1783N	K	+	3	2	ZDBF2	206882846	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.789000	0.04609	-0.938000	0.03714	0.650000	0.86243	AAG	ZDBF2	-	NULL		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207174601	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.000	T	T	207174601	G	T	207174601	3	4	131	1	0	0	0	0	1	0	0	0	17629	933	33	3	5359	3	ZDBF2	2	207174601	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2814548	207174601	36024772	327	20467										
ZDBF2	57683	genome.wustl.edu	37	chr2	207175201	207175201	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatgacagaaaaaccaaaaaGaaagtcaaaattgggacagt	9	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207175201G>T	ENST00000374423.3	+	5	6335	c.5949G>T	c.(5947-5949)aaG>aaT	p.K1983N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1983							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACCAAAAAGAAAGTCAAAA	0.348																																																	0													54	54	54					2																	207175201		1827	4090	5917	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5949G>T	2.37:g.207175201G>T	ENSP00000363545:p.Lys1983Asn		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.K1983N	ENST00000374423.3	37	c.5949	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115260	0.56505	.	.	ENSG00000204186	ENST00000374423	T	0.53857	0.6	4.9	-1.6	0.08426	.	.	.	.	.	T	0.39655	0.1086	L	0.43152	1.355	0.09310	N	1	B	0.25563	0.129	B	0.27608	0.081	T	0.33954	-0.9848	9	0.46703	T	0.11	.	5.1619	0.15066	0.2767:0.2644:0.4589:0.0	.	1983	Q9HCK1	ZDBF2_HUMAN	N	1983	ENSP00000363545:K1983N	ENSP00000363545:K1983N	K	+	3	2	ZDBF2	206883446	0.638000	0.27225	0.000000	0.03702	0.205000	0.24178	1.327000	0.33746	-0.343000	0.08351	0.563000	0.77884	AAG	ZDBF2	-	NULL		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207175201	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.050	T	T	207175201	G	T	207175201	3	4	131	1	0	0	0	0	1	0	0	0	17629	933	33	3	5959	3	ZDBF2	2	207175201	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	600	207175201	36024172	328	20468										
ZDBF2	57683	genome.wustl.edu	37	chr2	207175683	207175683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcgtgagcttccaaagaaaaGaaatttccagctaacatttt	6	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207175683G>T	ENST00000374423.3	+	5	6817	c.6431G>T	c.(6430-6432)aGa>aTa	p.R2144I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2144							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCAAAGAAAAGAAATTTCCAG	0.348																																																	0													41	42	42					2																	207175683		1799	4076	5875	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6431G>T	2.37:g.207175683G>T	ENSP00000363545:p.Arg2144Ile		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R2144I	ENST00000374423.3	37	c.6431	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490005	0.26686	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	5.01	2.16	0.27623	.	.	.	.	.	T	0.26629	0.0651	N	0.22421	0.69	0.09310	N	1	B	0.28971	0.229	B	0.20767	0.031	T	0.15838	-1.0423	9	0.41790	T	0.15	.	2.105	0.03688	0.2492:0.1428:0.4776:0.1304	.	2144	Q9HCK1	ZDBF2_HUMAN	I	2144	ENSP00000363545:R2144I	ENSP00000363545:R2144I	R	+	2	0	ZDBF2	206883928	0.054000	0.20591	0.016000	0.15963	0.012000	0.07955	1.382000	0.34374	0.623000	0.30267	-0.150000	0.13652	AGA	ZDBF2	-	NULL		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207175683	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.001	T	T	207175683	G	T	207175683	3	4	131	1	0	0	0	0	1	0	0	0	17629	942	33	3	6441	3	ZDBF2	2	207175683	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	482	207175683	36023690	329	20469										
ADAM23	8745	genome.wustl.edu	37	chr2	207435488	207435488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgagcccacggaatgtggaAatggatacgtggaagctggg	16	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207435488A>C	ENST00000264377.3	+	16	1847	c.1519A>C	c.(1519-1521)Aat>Cat	p.N507H	ADAM23_ENST00000374416.1_Missense_Mutation_p.N507H|ADAM23_ENST00000374415.3_Missense_Mutation_p.N507H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	507	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGAATGTGGAAATGGATACGT	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)												0													210	191	197					2																	207435488		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1519A>C	2.37:g.207435488A>C	ENSP00000264377:p.Asn507His		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.N507H	ENST00000264377.3	37	c.1519	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384205	0.82792	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.03607	3.88;3.87;3.87	5.91	5.91	0.95273	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.38161	0.1030	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66284	-0.5962	10	0.87932	D	0	.	16.004	0.80344	1.0:0.0:0.0:0.0	.	507	O75077	ADA23_HUMAN	H	507;507;401;507	ENSP00000264377:N507H;ENSP00000363537:N507H;ENSP00000363536:N507H	ENSP00000264377:N507H	N	+	1	0	ADAM23	207143733	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.778000	0.85637	2.263000	0.75096	0.379000	0.24179	AAT	ADAM23	-	pfscan_Blood-coag_inhib_Disintegrin		0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	A	NM_003812		207435488	1	no_errors	ENST00000264377	ensembl	human	known	70_37	missense	SNP	1.000	C	C	207435488	A	C	207435488	3	2	131	1	0	0	0	0	1	0	0	0	245	14	1	5	1581	5	ADAM23	2	207435488	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	259805	207435488	35763885	330	20470										
MDH1B	130752	genome.wustl.edu	37	chr2	207622051	207622051	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccagatgataggggaattCttgtgactccacttattctt	8	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207622051C>A	ENST00000374412.3	-	3	455	c.180G>T	c.(178-180)aaG>aaT	p.K60N	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Missense_Mutation_p.K60N|MDH1B_ENST00000454776.2_Missense_Mutation_p.K60N	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	60					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.K60N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TAGGGGAATTCTTGTGACTCC	0.398																																					Pancreas(76;29 1355 28675 37177 51207)												1	Substitution - Missense(1)	lung(1)											131	128	129					2																	207622051		2203	4300	6503	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.180G>T	2.37:g.207622051C>A	ENSP00000363533:p.Lys60Asn		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.K60N	ENST00000374412.3	37	c.180	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720868	0.15372	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.60424	0.19;0.19;0.19	5.84	-0.749	0.11084	.	0.639143	0.17561	N	0.169802	T	0.31544	0.0800	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.13407	0.009;0.004	T	0.08513	-1.0718	10	0.29301	T	0.29	-7.7597	2.7856	0.05373	0.1225:0.3726:0.1262:0.3787	.	60;60	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	N	60	ENSP00000363533:K60N;ENSP00000389916:K60N;ENSP00000376049:K60N	ENSP00000363533:K60N	K	-	3	2	MDH1B	207330296	0.000000	0.05858	0.001000	0.08648	0.666000	0.39218	-1.125000	0.03257	-0.345000	0.08325	0.655000	0.94253	AAG	MDH1B	-	NULL		0.398	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207622051	-1	no_errors	ENST00000374412	ensembl	human	known	70_37	missense	SNP	0.002	A	A	207622051	C	A	207622051	3	1	131	1	0	0	0	0	1	0	0	0	9432	912	32	3	1416	3	MDH1B	2	207622051	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	186563	207622051	35577322	331	20471										
CPO	130749	genome.wustl.edu	37	chr2	207823079	207823079	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttggatggactgtggaattCacgccagagaatggattgct	13	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207823079C>A	ENST00000272852.3	+	4	368	c.322C>A	c.(322-324)Cac>Aac	p.H108N		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTGTGGAATTCACGCCAGAGA	0.403																																																	0													217	205	209					2																	207823079		2203	4300	6503	SO:0001583	missense	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.322C>A	2.37:g.207823079C>A	ENSP00000272852:p.His108Asn		Q2M277|Q7RTW7	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.H108N	ENST00000272852.3	37	c.322	CCDS2372.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869367	0.72065	.	.	ENSG00000144410	ENST00000272852	T	0.61627	0.09	4.68	3.79	0.43588	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	H	0.97131	3.945	0.44345	D	0.997236	D	0.89917	1.0	D	0.91635	0.999	D	0.86168	0.1598	10	0.87932	D	0	.	11.0535	0.47905	0.0:0.9069:0.0:0.0931	.	108	Q8IVL8	CBPO_HUMAN	N	108	ENSP00000272852:H108N	ENSP00000272852:H108N	H	+	1	0	CPO	207531324	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	5.259000	0.65485	1.149000	0.42402	0.561000	0.74099	CAC	CPO	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14		0.403	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	C	NM_173077		207823079	1	no_errors	ENST00000272852	ensembl	human	known	70_37	missense	SNP	1.000	A	A	207823079	C	A	207823079	3	1	131	1	0	0	0	0	1	0	0	0	3825	826	29	3	336	3	CPO	2	207823079	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	201028	207823079	35376294	332	20472										
PIKFYVE	200576	genome.wustl.edu	37	chr2	209138439	209138439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcttaatgaggaactccagCggcgctcttcagcattaggt	11	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:209138439C>A	ENST00000264380.4	+	3	462	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	PIKFYVE_ENST00000392202.3_Silent_p.R102R|PIKFYVE_ENST00000407449.1_Silent_p.R102R|PIKFYVE_ENST00000308862.6_Silent_p.R102R	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	102					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAACTCCAGCGGCGCTCTTC	0.448																																																	0													113	107	109					2																	209138439		2203	4300	6503	SO:0001819	synonymous_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.304C>A	2.37:g.209138439C>A			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.R102	ENST00000264380.4	37	c.304	CCDS2382.1	2																																																																																			PIKFYVE	-	NULL		0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209138439	1	no_errors	ENST00000264380	ensembl	human	known	70_37	silent	SNP	0.993	A	A	209138439	C	A	209138439	2	1	131	1	0	0	0	0	0	0	0	1	11948	759	27	2		2	PIKFYVE	2	209138439	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1315360	209138439	34060934	333	20473										
MAP2	4133	genome.wustl.edu	37	chr2	210559578	210559578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatcaggggagagtggtaCcttttacgaaggcactgatg	13	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:210559578C>T	ENST00000360351.4	+	7	3190	c.2684C>T	c.(2683-2685)aCc>aTc	p.T895I	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T891I	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	895					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAGAGTGGTACCTTTTACGAA	0.463																																					Pancreas(27;423 979 28787 29963)												0													70	65	67					2																	210559578		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2684C>T	2.37:g.210559578C>T	ENSP00000353508:p.Thr895Ile		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.T895I	ENST00000360351.4	37	c.2684	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046947	0.36085	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18810	2.19;2.19	5.9	5.02	0.67125	MAP2/Tau projection (1);	0.324847	0.26923	N	0.021820	T	0.14098	0.0341	N	0.14661	0.345	0.21220	N	0.99975	B;B	0.18013	0.02;0.025	B;B	0.22152	0.023;0.038	T	0.15321	-1.0441	10	0.33141	T	0.24	-5.0294	14.4847	0.67609	0.0:0.9301:0.0:0.0699	.	891;895	P11137-3;P11137	.;MAP2_HUMAN	I	895;891	ENSP00000353508:T895I;ENSP00000392164:T891I	ENSP00000353508:T895I	T	+	2	0	MAP2	210267823	0.967000	0.33354	0.988000	0.46212	0.974000	0.67602	2.287000	0.43505	2.808000	0.96608	0.650000	0.86243	ACC	MAP2	-	pfam_MAP2_projctn		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	C	NM_001039538		210559578	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.984	T	T	210559578	C	T	210559578	3	4	131	1	0	0	0	0	1	0	0	0	9258	507	18	4	2698	4	MAP2	2	210559578	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1421139	210559578	32639795	334	20474										
MAP2	4133	genome.wustl.edu	37	chr2	210594630	210594630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttcaaagaaaaggcccaaGctaaagttggttctcttgat	8	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:210594630G>T	ENST00000360351.4	+	14	5718	c.5212G>T	c.(5212-5214)Gct>Tct	p.A1738S	MAP2_ENST00000361559.4_Missense_Mutation_p.A382S|MAP2_ENST00000392194.1_Missense_Mutation_p.A382S|MAP2_ENST00000199940.6_Missense_Mutation_p.A470S|MAP2_ENST00000447185.1_Missense_Mutation_p.A1734S	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1738					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGGCCCAAGCTAAAGTTGG	0.368																																					Pancreas(27;423 979 28787 29963)												0													114	109	110					2																	210594630		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5212G>T	2.37:g.210594630G>T	ENSP00000353508:p.Ala1738Ser		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.A1738S	ENST00000360351.4	37	c.5212	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646928	0.67358	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.77	5.77	0.91146	.	0.000000	0.53938	D	0.000046	T	0.72145	0.3424	N	0.01091	-1.02	0.80722	D	1	D;P;P;D;B	0.59767	0.978;0.884;0.905;0.986;0.284	P;P;P;P;B	0.59948	0.708;0.509;0.642;0.866;0.262	T	0.71823	-0.4476	10	0.02654	T	1	-18.9357	19.5998	0.95557	0.0:0.0:1.0:0.0	.	1734;382;383;1738;470	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	S	470;1738;382;382;1734	ENSP00000199940:A470S;ENSP00000353508:A1738S;ENSP00000355290:A382S;ENSP00000376032:A382S;ENSP00000392164:A1734S	ENSP00000199940:A470S	A	+	1	0	MAP2	210302875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.730000	0.93505	0.655000	0.94253	GCT	MAP2	-	pfam_Tau/MAP_tubulin-bd_rpt		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594630	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	T	T	210594630	G	T	210594630	3	4	131	1	0	0	0	0	1	0	0	0	9258	971	34	4	5526	4	MAP2	2	210594630	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	35052	210594630	32604743	335	20475										
ACADL	33	genome.wustl.edu	37	chr2	211053739	211053739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccttcattatttcatttgtAccaccatagattggctgaac	5	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:211053739A>G	ENST00000233710.3	-	11	1466	c.1239T>C	c.(1237-1239)ggT>ggC	p.G413G	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	413					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTTCATTTGTACCACCATAGA	0.353																																																	0													143	143	143					2																	211053739		2203	4300	6503	SO:0001819	synonymous_variant	33			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1239T>C	2.37:g.211053739A>G			B2R8T3|Q8IUN8	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.G413	ENST00000233710.3	37	c.1239	CCDS2389.1	2																																																																																			ACADL	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2	A	NM_001608		211053739	-1	no_errors	ENST00000233710	ensembl	human	known	70_37	silent	SNP	0.875	G	G	211053739	A	G	211053739	2	3	131	1	0	0	0	0	0	0	0	1	112	378	14	5		5	ACADL	2	211053739	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	459109	211053739	32145634	336	20476										
MYL1	4632	genome.wustl.edu	37	chr2	211167231	211167231	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatcctgctgttccttagaGaactcgatctgttagaaaga	8	10	1	3	rs201406310		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:211167231G>T	ENST00000352451.3	-	2	288	c.141C>A	c.(139-141)ttC>ttA	p.F47L	MYL1_ENST00000341685.4_Intron|MYL1_ENST00000496436.1_Intron	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	47					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTTCCTTAGAGAACTCGATCT	0.368																																																	0													104	99	100					2																	211167231		2203	4300	6503	SO:0001583	missense	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.141C>A	2.37:g.211167231G>T	ENSP00000307280:p.Phe47Leu		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F47L	ENST00000352451.3	37	c.141	CCDS2390.1	2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666936	0.47677	.	.	ENSG00000168530	ENST00000352451	T	0.75050	-0.9	5.7	4.64	0.57946	.	0.237336	0.51477	D	0.000097	T	0.74084	0.3670	M	0.84082	2.675	0.45378	D	0.998362	B	0.22851	0.076	B	0.23852	0.049	T	0.69676	-0.5081	10	0.25106	T	0.35	.	12.0084	0.53272	0.1479:0.0:0.8521:0.0	.	47	P05976	MYL1_HUMAN	L	47	ENSP00000307280:F47L	ENSP00000307280:F47L	F	-	3	2	MYL1	210875476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.683000	0.61679	2.678000	0.91216	0.650000	0.86243	TTC	MYL1	-	NULL		0.368	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	G	NM_079420		211167231	-1	no_errors	ENST00000352451	ensembl	human	known	70_37	missense	SNP	1.000	T	T	211167231	G	T	211167231	3	4	131	1	0	0	0	0	1	0	0	0	10066	933	33	3	463	3	MYL1	2	211167231	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	113492	211167231	32032142	337	20477										
CPS1	1373	genome.wustl.edu	37	chr2	211447406	211447406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgtggatccaaataaacaGaatttgattgctgaggtttc	9	5	0	3	rs150369462		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:211447406G>A	ENST00000233072.5	+	6	790	c.594G>A	c.(592-594)caG>caA	p.Q198Q	CPS1_ENST00000430249.2_Silent_p.Q204Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	198	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAAATAAACAGAATTTGATTG	0.328																																																	0								G	,	2,4404	4.2+/-10.8	0,2,2201	135	136	136		612,594	5	1	2	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CPS1	NM_001122633.2,NM_001875.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	204/1507,198/1501	211447406	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.594G>A	2.37:g.211447406G>A			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.Q204	ENST00000233072.5	37	c.612	CCDS2393.1	2																																																																																			CPS1	-	superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu		0.328	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	G			211447406	1	no_errors	ENST00000430249	ensembl	human	known	70_37	silent	SNP	1.000	A	A	211447406	G	A	211447406	2	1	131	1	0	0	0	0	0	0	0	1	3828	933	33	1		1	CPS1	2	211447406	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	280175	211447406	31751967	338	20478										
ERBB4	2066	genome.wustl.edu	37	chr2	212495258	212495258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctaacataaacagcaaatgTcagacccacaatgaccagaa	5	11	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:212495258T>C	ENST00000342788.4	-	17	2318	c.2008A>G	c.(2008-2010)Aca>Gca	p.T670A	ERBB4_ENST00000402597.1_Missense_Mutation_p.T660A|ERBB4_ENST00000436443.1_Missense_Mutation_p.T670A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	670					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACAGCAAATGTCAGACCCACA	0.393										TSP Lung(8;0.080)																																							0													99	105	103					2																	212495258		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2008A>G	2.37:g.212495258T>C	ENSP00000342235:p.Thr670Ala		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T670A	ENST00000342788.4	37	c.2008	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.04|10.04	1.241294|1.241294	0.22711|0.22711	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.74209|.	-0.8;-0.8;-0.82|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.086530|.	0.85682|.	D|.	0.000000|.	T|.	0.51346|.	0.1669|.	N|N	0.19112|0.19112	0.55|0.55	0.51482|0.51482	D|D	0.999923|0.999923	B;B;B;B;B|.	0.30146|.	0.27;0.01;0.107;0.27;0.177|.	B;B;B;B;B|.	0.30316|.	0.114;0.022;0.028;0.114;0.053|.	T|.	0.48581|.	-0.9023|.	10|.	0.23891|.	T|.	0.37|.	.|.	15.8057|15.8057	0.78506|0.78506	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	660;660;529;670;670|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	A|W	670;670;660|659	ENSP00000342235:T670A;ENSP00000403204:T670A;ENSP00000385565:T660A|.	ENSP00000342235:T670A|.	T|X	-|-	1|3	0|0	ERBB4|ERBB4	212203503|212203503	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	3.739000|3.739000	0.55075|0.55075	2.143000|2.143000	0.66587|0.66587	0.473000|0.473000	0.43528|0.43528	ACA|TGA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	T	NM_001042599		212495258	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	C	C	212495258	T	C	212495258	3	2	131	1	0	0	0	0	1	0	0	0	5221	1667	58	5	1966	5	ERBB4	2	212495258	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1047852	212495258	30704115	339	20479										
ABCA12	26154	genome.wustl.edu	37	chr2	215914364	215914364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actcacctgggagaactgttTgtttagttcttggagagaag	12	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:215914364T>C	ENST00000272895.7	-	6	898	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	227					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGAACTGTTTGTTTAGTTCT	0.393																																					Ovarian(66;664 1488 5121 34295)												0													78	76	77					2																	215914364		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.679A>G	2.37:g.215914364T>C	ENSP00000272895:p.Lys227Glu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K227E	ENST00000272895.7	37	c.679	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	T	8.440	0.850734	0.17034	.	.	ENSG00000144452	ENST00000272895	D	0.87887	-2.31	5.75	0.651	0.17817	.	0.477437	0.21153	N	0.079281	T	0.68622	0.3021	N	0.08118	0	0.21105	N	0.99978	B	0.02656	0.0	B	0.01281	0.0	T	0.55780	-0.8087	10	0.36615	T	0.2	.	4.3897	0.11334	0.1421:0.2146:0.0:0.6433	.	227	Q86UK0	ABCAC_HUMAN	E	227	ENSP00000272895:K227E	ENSP00000272895:K227E	K	-	1	0	ABCA12	215622609	1.000000	0.71417	0.006000	0.13384	0.804000	0.45430	1.268000	0.33062	-0.045000	0.13468	0.533000	0.62120	AAA	ABCA12	-	NULL		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	T	NM_173076		215914364	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.260	C	C	215914364	T	C	215914364	3	2	131	1	0	0	0	0	1	0	0	0	30	1821	63	5	7331	5	ABCA12	2	215914364	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3419106	215914364	27285009	340	20480										
FN1	2335	genome.wustl.edu	37	chr2	216235148	216235148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cactggtagaagttccaggaAccctgaactgcaattatcgg	10	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:216235148A>G	ENST00000359671.1	-	40	6714	c.6449T>C	c.(6448-6450)gTt>gCt	p.V2150A	FN1_ENST00000357009.2_Intron|FN1_ENST00000357867.4_Missense_Mutation_p.V1940A|FN1_ENST00000446046.1_Missense_Mutation_p.V2094A|FN1_ENST00000336916.4_Missense_Mutation_p.V2119A|FN1_ENST00000354785.4_Missense_Mutation_p.V2241A|FN1_ENST00000356005.4_Missense_Mutation_p.V2060A|FN1_ENST00000421182.1_Missense_Mutation_p.V2004A|FN1_ENST00000323926.6_Missense_Mutation_p.V2210A|FN1_ENST00000443816.1_Missense_Mutation_p.V2029A|FN1_ENST00000346544.3_Missense_Mutation_p.V2030A|FN1_ENST00000432072.2_Missense_Mutation_p.V2031A|FN1_ENST00000345488.5_Intron			P02751	FINC_HUMAN	fibronectin 1	2150	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGTTCCAGGAACCCTGAACTG	0.488																																																	0													84	78	80					2																	216235148		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6449T>C	2.37:g.216235148A>G	ENSP00000352696:p.Val2150Ala		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.V2241A	ENST00000359671.1	37	c.6722		2	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468300	0.63625	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095586	0.44285	D	0.000462	T	0.75361	0.3839	M	0.71581	2.175	0.80722	D	1	D;D;P;D;P;D;D;P;D;D;D;D;D	0.71674	0.996;0.979;0.873;0.991;0.873;0.989;0.991;0.925;0.991;0.979;0.989;0.998;0.998	D;D;B;P;B;D;D;P;D;D;D;D;D	0.85130	0.997;0.989;0.34;0.907;0.413;0.989;0.993;0.712;0.993;0.989;0.989;0.995;0.997	T	0.75750	-0.3208	10	0.46703	T	0.11	.	16.4069	0.83677	1.0:0.0:0.0:0.0	.	1910;2030;2031;2210;1940;2060;2094;2119;2151;2004;2029;2241;2150	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	A	2004;2210;2119;1940;2241;2151;2150;2030;2094;2029;2031;2060;867	ENSP00000394423:V2004A;ENSP00000323534:V2210A;ENSP00000338200:V2119A;ENSP00000350534:V1940A;ENSP00000346839:V2241A;ENSP00000352696:V2150A;ENSP00000265312:V2030A;ENSP00000410422:V2094A;ENSP00000415018:V2029A;ENSP00000399538:V2031A;ENSP00000348285:V2060A;ENSP00000416139:V867A	ENSP00000265313:V2151A	V	-	2	0	FN1	215943393	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.576000	0.82467	2.272000	0.75746	0.460000	0.39030	GTT	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		A	NM_212476		216235148	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	1.000	G	G	216235148	A	G	216235148	3	3	131	1	0	0	0	0	1	0	0	0	5980	43	2	5	735	5	FN1	2	216235148	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	320784	216235148	26964225	341	20481										
RUFY4	285180	genome.wustl.edu	37	chr2	218938012	218938012	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctctgcccagaacgccaaGaagacatcctggactctctc	8	15	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:218938012G>T	ENST00000344321.7	+	7	951	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_Missense_Mutation_p.R109I|RUFY4_ENST00000374155.3_Nonsense_Mutation_p.E145*	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	145	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.						metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAACGCCAAGAAGACATCCT	0.577																																																	0													108	105	106					2																	218938012		692	1591	2283	SO:0001587	stop_gained	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.433G>T	2.37:g.218938012G>T	ENSP00000345900:p.Glu145*		Q6ZR96	Nonsense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.E145*	ENST00000344321.7	37	c.433		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.672030|5.672030	0.96754|0.96754	.|.	.|.	ENSG00000188282|ENSG00000188282	ENST00000344321;ENST00000374155|ENST00000441828	.|.	.|.	.|.	4.48|4.48	1.43|1.43	0.22495|0.22495	.|.	0.780519|.	0.10957|.	N|.	0.615372|.	.|T	.|0.34164	.|0.0888	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24333	.|-1.0163	.|5	0.09843|0.38643	T|T	0.71|0.18	-10.731|-10.731	6.1928|6.1928	0.20534|0.20534	0.1438:0.3327:0.5236:0.0|0.1438:0.3327:0.5236:0.0	.|.	.|.	.|.	.|.	X|I	145|109	.|.	ENSP00000345900:E145X|ENSP00000388839:R109I	E|R	+|+	1|2	0|0	RUFY4|RUFY4	218646257|218646257	0.061000|0.061000	0.20836|0.20836	0.885000|0.885000	0.34714|0.34714	0.384000|0.384000	0.30261|0.30261	1.777000|1.777000	0.38604|0.38604	1.058000|1.058000	0.40530|0.40530	0.591000|0.591000	0.81541|0.81541	GAA|AGA	RUFY4	-	pfam_Run,smart_Run,pfscan_Run		0.577	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		G	NM_198483		218938012	1	no_errors	ENST00000374155	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	218938012	G	T	218938012	4	4	131	1	0	0	0	0	0	1	0	0	13771	943	33	3	451	3	RUFY4	2	218938012	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2702864	218938012	24261361	342	20482										
CYP27A1	1593	genome.wustl.edu	37	chr2	219674429	219674429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaagtacccagtacggaacGacatggagctatggaaggag	14	8	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:219674429G>A	ENST00000258415.4	+	2	812	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	129					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AGTACGGAACGACATGGAGCT	0.612																																																	0													147	124	132					2																	219674429		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.385G>A	2.37:g.219674429G>A	ENSP00000258415:p.Asp129Asn		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D129N	ENST00000258415.4	37	c.385	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334363	0.60853	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.68624	-0.34;-0.34	5.63	-2.26	0.06867	.	0.457792	0.27577	N	0.018746	T	0.49098	0.1537	L	0.41356	1.27	0.20403	N	0.999902	P	0.41947	0.766	B	0.41332	0.354	T	0.48896	-0.8994	10	0.26408	T	0.33	-4.0347	5.7474	0.18128	0.062:0.1555:0.2923:0.4901	.	129	Q02318	CP27A_HUMAN	N	129;35	ENSP00000258415:D129N;ENSP00000392671:D35N	ENSP00000258415:D129N	D	+	1	0	CYP27A1	219382673	0.976000	0.34144	0.001000	0.08648	0.977000	0.68977	1.697000	0.37784	-0.872000	0.04037	0.650000	0.86243	GAC	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.612	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	G			219674429	1	no_errors	ENST00000258415	ensembl	human	known	70_37	missense	SNP	0.090	A	A	219674429	G	A	219674429	3	1	131	1	0	0	0	0	1	0	0	0	4163	1058	37	1	391	1	CYP27A1	2	219674429	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	736417	219674429	23524944	343	20483										
IHH	3549	genome.wustl.edu	37	chr2	219920323	219920323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgccggctccgtgtgattgTcagccgtaaagagcaggtga	14	10	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:219920323T>C	ENST00000295731.6	-	3	841	c.842A>G	c.(841-843)gAc>gGc	p.D281G		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	281					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGTGATTGTCAGCCGTAAA	0.672																																																	0													43	46	45					2																	219920323		2203	4300	6503	SO:0001583	missense	3549			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.842A>G	2.37:g.219920323T>C	ENSP00000295731:p.Asp281Gly		B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog	p.D281G	ENST00000295731.6	37	c.842	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196005	0.38806	.	.	ENSG00000163501	ENST00000295731	D	0.98684	-5.07	5.16	5.16	0.70880	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.390228	0.30365	N	0.009795	D	0.96944	0.9002	L	0.41356	1.27	0.41283	D	0.986923	B	0.31752	0.338	B	0.37015	0.239	D	0.96743	0.9548	10	0.31617	T	0.26	-14.2352	14.6672	0.68918	0.0:0.0:0.0:1.0	.	281	Q14623	IHH_HUMAN	G	281	ENSP00000295731:D281G	ENSP00000295731:D281G	D	-	2	0	IHH	219628567	1.000000	0.71417	0.949000	0.38748	0.831000	0.47069	2.554000	0.45845	1.929000	0.55896	0.459000	0.35465	GAC	IHH	-	pfam_Hint_dom,smart_Hint_dom_N,pirsf_Hedgehog,prints_Hedgehog		0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	T	NM_002181		219920323	-1	no_errors	ENST00000295731	ensembl	human	known	70_37	missense	SNP	0.960	C	C	219920323	T	C	219920323	3	2	131	1	0	0	0	0	1	0	0	0	7627	1667	58	5	397	5	IHH	2	219920323	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	245894	219920323	23279050	344	20484										
OBSL1	23363	genome.wustl.edu	37	chr2	220432576	220432576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcagatgaccggcagctcCtccccatcacggctccagcg	11	17	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:220432576C>T	ENST00000404537.1	-	3	1454	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E	OBSL1_ENST00000289656.3_Silent_p.E53E|OBSL1_ENST00000373873.4_Silent_p.E466E|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Silent_p.E466E|OBSL1_ENST00000373876.1_Silent_p.E466E|OBSL1_ENST00000603926.1_Silent_p.E466E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	466					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGCAGCTCCTCCCCATCAC	0.642																																																	0													40	45	43					2																	220432576		2146	4260	6406	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1398G>A	2.37:g.220432576C>T			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E466	ENST00000404537.1	37	c.1398	CCDS46520.1	2																																																																																			OBSL1	-	smart_Ig_sub		0.642	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220432576	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	silent	SNP	0.918	T	T	220432576	C	T	220432576	2	4	131	1	0	0	0	0	0	0	0	1	10837	680	24	4		4	OBSL1	2	220432576	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	512253	220432576	22766797	345	20485										
SCG2	7857	genome.wustl.edu	37	chr2	224462577	224462577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagctttgggaagctggttcGatctagatcttccagcacca	10	11	2	1	rs141189708		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:224462577G>A	ENST00000305409.2	-	2	1656	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGCTGGTTCGATCTAGATCT	0.443																																																	0								G	LEU/SER	0,4406		0,0,2203	141	134	136		1424	0.6	0	2	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCG2	NM_003469.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/618	224462577	1,13005	2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1424C>T	2.37:g.224462577G>A	ENSP00000304133:p.Ser475Leu		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.S475L	ENST00000305409.2	37	c.1424	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783193	0.02907	0.0	1.16E-4	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01560	4.77	5.86	0.633	0.17712	.	0.430713	0.25756	N	0.028511	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47381	-0.9122	10	0.48119	T	0.1	.	6.3587	0.21417	0.3814:0.2949:0.3237:0.0	.	475	P13521	SCG2_HUMAN	L	475;335	ENSP00000304133:S475L	ENSP00000304133:S475L	S	-	2	0	SCG2	224170821	0.206000	0.23470	0.000000	0.03702	0.145000	0.21501	0.925000	0.28791	0.083000	0.17047	0.650000	0.86243	TCG	SCG2	-	pfam_Granin		0.443	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	G	NM_003469		224462577	-1	no_errors	ENST00000305409	ensembl	human	known	70_37	missense	SNP	0.010	A	A	224462577	G	A	224462577	3	1	131	1	0	0	0	0	1	0	0	0	13921	1059	37	1	433	1	SCG2	2	224462577	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4030001	224462577	18736796	346	20486										
WDFY1	57590	genome.wustl.edu	37	chr2	224746785	224746785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgcccgcatttcctgcagTgatgcttcacaggtgaccgg	11	14	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:224746785T>G	ENST00000233055.4	-	10	1040	c.938A>C	c.(937-939)cAc>cCc	p.H313P		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	313						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTTCCTGCAGTGATGCTTCAC	0.532																																																	0													157	160	159					2																	224746785		2203	4300	6503	SO:0001583	missense	57590			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.938A>C	2.37:g.224746785T>G	ENSP00000233055:p.His313Pro		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H313P	ENST00000233055.4	37	c.938	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486419	0.84854	.	.	ENSG00000085449	ENST00000233055	D	0.81499	-1.5	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.99454	4.575	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95436	0.8521	10	0.33141	T	0.24	-30.9946	16.3322	0.83039	0.0:0.0:0.0:1.0	.	313	Q8IWB7	WDFY1_HUMAN	P	313	ENSP00000233055:H313P	ENSP00000233055:H313P	H	-	2	0	WDFY1	224455029	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.694000	0.84235	2.251000	0.74343	0.528000	0.53228	CAC	WDFY1	-	pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.532	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	T	NM_020830		224746785	-1	no_errors	ENST00000233055	ensembl	human	known	70_37	missense	SNP	1.000	G	G	224746785	T	G	224746785	3	3	131	1	0	0	0	0	1	0	0	0	17299	1696	59	5	306	5	WDFY1	2	224746785	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	284208	224746785	18452588	347	20487										
DOCK10	55619	genome.wustl.edu	37	chr2	225670166	225670166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcactgctcttctcattggTacttggattggagtcaagac	9	10	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:225670166T>C	ENST00000258390.7	-	35	3962	c.3895A>G	c.(3895-3897)Acc>Gcc	p.T1299A	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1293A	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1299					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTCATTGGTACTTGGATTG	0.433																																																	0													161	156	158					2																	225670166		2098	4223	6321	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3895A>G	2.37:g.225670166T>C	ENSP00000258390:p.Thr1299Ala		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T1299A	ENST00000258390.7	37	c.3895	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032985	0.35893	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19250	2.16;2.17	5.74	4.57	0.56435	.	0.092996	0.64402	D	0.000001	T	0.17365	0.0417	L	0.55481	1.735	0.39549	D	0.968949	B;B;B	0.30406	0.113;0.278;0.113	B;B;B	0.22386	0.03;0.039;0.03	T	0.03662	-1.1015	10	0.07990	T	0.79	.	12.5921	0.56449	0.1244:0.0:0.0:0.8756	.	1299;153;1293	Q96BY6;B4DF07;B3FL70	DOC10_HUMAN;.;.	A	1293;1299	ENSP00000386694:T1293A;ENSP00000258390:T1299A	ENSP00000258390:T1299A	T	-	1	0	DOCK10	225378410	1.000000	0.71417	0.815000	0.32552	0.983000	0.72400	7.432000	0.80349	1.095000	0.41419	0.459000	0.35465	ACC	DOCK10	-	superfamily_ARM-type_fold		0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	T			225670166	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	C	C	225670166	T	C	225670166	3	2	131	1	0	0	0	0	1	0	0	0	4695	1638	57	5	2753	5	DOCK10	2	225670166	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	923381	225670166	17529207	348	20488										
KIAA1486	57624	genome.wustl.edu	37	chr2	226446723	226446723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctcctcccaaaccgaagcGaaatccgaacactcagctga	6	16	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:226446723G>A	ENST00000272907.6	+	4	1003	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											119	124	122					2																	226446723		1929	4133	6062	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.590G>A	2.37:g.226446723G>A	ENSP00000272907:p.Arg197Gln		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.R197Q	ENST00000272907.6	37	c.590	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448812	0.84101	.	.	ENSG00000144460	ENST00000272907	T	0.72394	-0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86308	0.1684	10	0.72032	D	0.01	-27.5579	20.3541	0.98825	0.0:0.0:1.0:0.0	.	197	Q9P242	K1486_HUMAN	Q	197	ENSP00000272907:R197Q	ENSP00000272907:R197Q	R	+	2	0	KIAA1486	226154967	1.000000	0.71417	0.267000	0.24556	0.429000	0.31625	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	CGA	NYAP2	-	NULL		0.502	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	G	NM_020864		226446723	1	no_errors	ENST00000272907	ensembl	human	known	70_37	missense	SNP	0.888	A	A	226446723	G	A	226446723	3	1	131	1	0	0	0	0	1	0	0	0	8257	1058	37	1	600	1	KIAA1486	2	226446723	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	776557	226446723	16752650	349	20489										
SP100	6672	genome.wustl.edu	37	chr2	231326077	231326077	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccattttctaattcaaaagtTgagtgccaagcccaagcaag	7	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:231326077T>G	ENST00000264052.5	+	9	1276	c.921T>G	c.(919-921)gtT>gtG	p.V307V	SP100_ENST00000427101.2_Silent_p.V282V|SP100_ENST00000409341.1_Silent_p.V307V|SP100_ENST00000409897.1_Silent_p.V272V|SP100_ENST00000341950.4_Silent_p.V307V|SP100_ENST00000409824.1_Silent_p.V282V|SP100_ENST00000409112.1_Silent_p.V307V|SP100_ENST00000340126.4_Silent_p.V307V	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	307					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTCAAAAGTTGAGTGCCAAG	0.438																																																	0													101	97	98					2																	231326077		2203	4300	6503	SO:0001819	synonymous_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.921T>G	2.37:g.231326077T>G			B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.V307	ENST00000264052.5	37	c.921	CCDS2477.1	2																																																																																			SP100	-	NULL		0.438	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	T	NM_003113		231326077	1	no_errors	ENST00000340126	ensembl	human	known	70_37	silent	SNP	0.001	G	G	231326077	T	G	231326077	2	3	131	1	0	0	0	0	0	0	0	1	14990	1799	63	5		5	SP100	2	231326077	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4879354	231326077	11873296	350	20490										
ITM2C	81618	genome.wustl.edu	37	chr2	231741620	231741620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggacaagtgctatgtcatcGaactcaacaccaccattgtg	8	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:231741620G>A	ENST00000326427.6	+	4	625	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	ITM2C_ENST00000326407.6_Intron|ITM2C_ENST00000335005.6_Missense_Mutation_p.E120K|ITM2C_ENST00000409704.2_Missense_Mutation_p.E105K|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	167	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTATGTCATCGAACTCAACAC	0.577																																																	0													178	160	166					2																	231741620		2203	4300	6503	SO:0001583	missense	81618			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.499G>A	2.37:g.231741620G>A	ENSP00000322730:p.Glu167Lys		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E167K	ENST00000326427.6	37	c.499	CCDS2479.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.480291	0.96307	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	D	0.84702	0.0729	10	0.72032	D	0.01	-1.6305	15.5631	0.76266	0.0:0.0:1.0:0.0	.	120;167	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	K	167;105;167;120;105;105;105	ENSP00000390655:E167K;ENSP00000440295:E105K;ENSP00000322730:E167K;ENSP00000335121:E120K;ENSP00000444899:E105K;ENSP00000387242:E105K;ENSP00000403257:E105K	ENSP00000322730:E167K	E	+	1	0	ITM2C	231449864	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.243000	0.72384	2.735000	0.93741	0.655000	0.94253	GAA	ITM2C	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.577	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2C	HGNC	protein_coding	OTTHUMT00000256954.2	G	NM_030926		231741620	1	no_errors	ENST00000326427	ensembl	human	known	70_37	missense	SNP	0.999	A	A	231741620	G	A	231741620	3	1	131	1	0	0	0	0	1	0	0	0	7934	1059	37	1	513	1	ITM2C	2	231741620	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	415543	231741620	11457753	351	20491										
HTR2B	3357	genome.wustl.edu	37	chr2	231973376	231973376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcagggttaatcccatttCgaattccatgtttcttgaaa	8	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:231973376C>T	ENST00000258400.3	-	4	1813	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	434					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	AATCCCATTTCGAATTCCATG	0.423																																					Ovarian(155;1331 1891 12853 14038 34991)												0													111	107	108					2																	231973376		2203	4300	6503	SO:0001583	missense	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1301G>A	2.37:g.231973376C>T	ENSP00000258400:p.Arg434Gln		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R434Q	ENST00000258400.3	37	c.1301	CCDS2483.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488421	0.64074	.	.	ENSG00000135914	ENST00000258400	T	0.60171	0.21	5.9	5.03	0.67393	.	0.205094	0.48286	D	0.000195	T	0.47820	0.1466	L	0.57536	1.79	0.39669	D	0.970733	P;P	0.45011	0.848;0.687	B;B	0.27262	0.078;0.078	T	0.56335	-0.7996	10	0.44086	T	0.13	.	15.0258	0.71669	0.0:0.9321:0.0:0.0679	.	249;434	B3VRC5;P41595	.;5HT2B_HUMAN	Q	434	ENSP00000258400:R434Q	ENSP00000258400:R434Q	R	-	2	0	HTR2B	231681620	0.999000	0.42202	0.951000	0.38953	0.995000	0.86356	2.961000	0.49168	1.511000	0.48818	0.650000	0.86243	CGA	HTR2B	-	prints_5HT2B_rcpt		0.423	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2B	HGNC	protein_coding	OTTHUMT00000256957.2	C	NM_000867		231973376	-1	no_errors	ENST00000258400	ensembl	human	known	70_37	missense	SNP	1.000	T	T	231973376	C	T	231973376	3	4	131	1	0	0	0	0	1	0	0	0	7462	884	31	1	148	1	HTR2B	2	231973376	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	231756	231973376	11225997	352	20492										
UGT1A9	54600	genome.wustl.edu	37	chr2	234581228	234581228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacatcatgcacttggaggaAcatttattatgccaccgttt	7	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234581228A>G	ENST00000354728.4	+	1	730	c.648A>G	c.(646-648)gaA>gaG	p.E216E	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Silent_p.E216E|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	216					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ACTTGGAGGAACATTTATTAT	0.443																																																	0													215	221	219					2																	234581228		2203	4300	6503	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.648A>G	2.37:g.234581228A>G			B8K285|P36509|Q9HAX0	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E216	ENST00000354728.4	37	c.648	CCDS2505.1	2																																																																																			UGT1A9	-	pfam_UDP_glucos_trans		0.443	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1	A	NM_021027		234581228	1	no_errors	ENST00000354728	ensembl	human	known	70_37	silent	SNP	0.002	G	G	234581228	A	G	234581228	2	3	131	1	0	0	0	0	0	0	0	1	16983	40	2	5		5	UGT1A9	2	234581228	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2607852	234581228	8618145	353	20493										
MSL3L2	151507	genome.wustl.edu	37	chr2	234775110	234775110	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaaagccagcaaacacaggActcccttcctggctaggagt	9	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234775110A>G	ENST00000438684.1	-	0	1004					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CAAACACAGGACTCCCTTCCT	0.507																																																	0													125	106	112					2																	234775110		692	1591	2283			151507			BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775110A>G				RNA	SNP	-	NULL	ENST00000438684.1	37	NULL		2																																																																																			MSL3P1	-	-		0.507	MSL3P1-002	KNOWN	basic	processed_transcript	MSL3P1	HGNC	pseudogene	OTTHUMT00000131002.2	A	NR_024322		234775110	-1	no_errors	ENST00000438684	ensembl	human	known	70_37	rna	SNP	0.041	G	G	234775110	A	G	234775110	1	3	131	0	1	0	0	0	0	0	0	0	9903	272	10	5		5	MSL3L2	2	234775110	RNA	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	193882	234775110	8424263	354	20494										
TRPM8	79054	genome.wustl.edu	37	chr2	234869596	234869596	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggaatctgcagatcgccaaGaattcctataatgatgccct	8	11	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234869596G>A	ENST00000324695.4	+	12	1579	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	TRPM8_ENST00000433712.2_Silent_p.K201K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	513					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.K513N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGATCGCCAAGAATTCCTATA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											115	98	103					2																	234869596		2203	4300	6503	SO:0001819	synonymous_variant	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1539G>A	2.37:g.234869596G>A			A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	pfam_Ion_trans_dom	p.K513	ENST00000324695.4	37	c.1539	CCDS33407.1	2																																																																																			TRPM8	-	NULL		0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234869596	1	no_errors	ENST00000324695	ensembl	human	known	70_37	silent	SNP	1.000	A	A	234869596	G	A	234869596	2	1	131	1	0	0	0	0	0	0	0	1	16623	933	33	1		1	TRPM8	2	234869596	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	94486	234869596	8329777	355	20495										
COL6A3	1293	genome.wustl.edu	37	chr2	238285451	238285451	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttgtgcactgattttaagaGattcactatctgtggatgaa	10	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:238285451G>T	ENST00000295550.4	-	7	3486	c.3034C>A	c.(3034-3036)Ctc>Atc	p.L1012I	COL6A3_ENST00000346358.4_Missense_Mutation_p.L812I|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L405I|COL6A3_ENST00000392003.2_Missense_Mutation_p.L605I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1012	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTTAAGAGATTCACTATC	0.493																																																	0													225	227	227					2																	238285451		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3034C>A	2.37:g.238285451G>T	ENSP00000295550:p.Leu1012Ile		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L1012I	ENST00000295550.4	37	c.3034	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420285	0.42918	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.55	4.64	0.57946	.	0.000000	0.47455	D	0.000235	T	0.51058	0.1652	M	0.64997	1.995	0.41471	D	0.988102	D;D;P;D;D;D	0.71674	0.983;0.998;0.892;0.989;0.998;0.983	P;D;P;D;D;P	0.70935	0.723;0.97;0.715;0.913;0.971;0.795	T	0.47995	-0.9073	10	0.28530	T	0.3	.	8.9081	0.35537	0.0782:0.1505:0.7713:0.0	.	812;405;605;806;806;1012	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	I	1012;811;806;405;806;812;806;605	ENSP00000295550:L1012I;ENSP00000315609:L811I;ENSP00000315873:L806I;ENSP00000418285:L405I;ENSP00000386844:L806I;ENSP00000295546:L812I;ENSP00000375861:L806I;ENSP00000375860:L605I	ENSP00000295550:L1012I	L	-	1	0	COL6A3	237950190	1.000000	0.71417	0.782000	0.31804	0.319000	0.28217	2.347000	0.44036	1.276000	0.44395	0.655000	0.94253	CTC	COL6A3	-	NULL		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238285451	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.954	T	T	238285451	G	T	238285451	3	4	131	1	0	0	0	0	1	0	0	0	3706	942	33	3	6698	3	COL6A3	2	238285451	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3415855	238285451	4913922	356	20496										
KIF1A	547	genome.wustl.edu	37	chr2	241664796	241664796	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcagaagtccttggtgacaAcagccggctgggtgcagttc	14	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:241664796A>C	ENST00000320389.7	-	38	4003	c.3845T>G	c.(3844-3846)gTt>gGt	p.V1282G	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1383G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1282					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTGGTGACAACAGCCGGCTG	0.622																																																	0													57	69	65					2																	241664796		2127	4263	6390	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3845T>G	2.37:g.241664796A>C	ENSP00000322791:p.Val1282Gly		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1383G	ENST00000320389.7	37	c.4148	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.22|17.22	3.334800|3.334800	0.60853|0.60853	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.75260	.|-0.78;-0.87;-0.92	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.069361	.|0.56097	.|U	.|0.000027	D|D	0.84115|0.84115	0.5401|0.5401	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.992;0.989	.|D;D;P	.|0.75020	.|0.955;0.985;0.873	D|D	0.85906|0.85906	0.1437|0.1437	5|10	.|0.87932	.|D	.|0	.|.	12.3771|12.3771	0.55285|0.55285	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1383;1391;1282	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	V|G	215|1282;1383;1391;1391	.|ENSP00000322791:V1282G;ENSP00000438388:V1383G;ENSP00000384231:V1391G	.|ENSP00000322791:V1282G	L|V	-|-	1|2	2|0	KIF1A|KIF1A	241313469|241313469	1.000000|1.000000	0.71417|0.71417	0.601000|0.601000	0.28877|0.28877	0.402000|0.402000	0.30811|0.30811	7.030000|7.030000	0.76484|0.76484	1.319000|1.319000	0.45190|0.45190	0.482000|0.482000	0.46254|0.46254	TTG|GTT	KIF1A	-	pfam_Kinesin-like		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	A	NM_138483		241664796	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	0.998	C	C	241664796	A	C	241664796	3	2	131	1	0	0	0	0	1	0	0	0	8303	43	2	5	1267	5	KIF1A	2	241664796	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3379345	241664796	1534577	357	20497										
HDLBP	3069	genome.wustl.edu	37	chr2	242174571	242174571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcctgtagctccttcacacGctccagcagtccagccttgg	10	16	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:242174571G>A	ENST00000391975.1	-	23	3336	c.3109C>T	c.(3109-3111)Cgt>Tgt	p.R1037C	HDLBP_ENST00000310931.4_Missense_Mutation_p.R1037C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R1037C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R1004C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1037	KH 12. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCCTTCACACGCTCCAGCAGT	0.622																																																	0													63	55	58					2																	242174571		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3109C>T	2.37:g.242174571G>A	ENSP00000375836:p.Arg1037Cys		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R1037C	ENST00000391975.1	37	c.3109	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.982318|3.982318	0.74474|0.74474	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	5.49|5.49	3.7|3.7	0.42460|0.42460	.|K Homology (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61110|0.61110	0.2321|0.2321	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.8;1.0	.|B;D	.|0.75020	.|0.379;0.985	T|T	0.62048|0.62048	-0.6936|-0.6936	5|10	.|0.72032	.|D	.|0.01	-17.6615|-17.6615	7.438|7.438	0.27166|0.27166	0.1445:0.0:0.692:0.1634|0.1445:0.0:0.692:0.1634	.|.	.|1004;1037	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	V|C	845|1037;1037;1037;1004	.|ENSP00000375836:R1037C;ENSP00000375837:R1037C;ENSP00000312042:R1037C;ENSP00000399139:R1004C	.|ENSP00000312042:R1037C	A|R	-|-	2|1	0|0	HDLBP|HDLBP	241823244|241823244	1.000000|1.000000	0.71417|0.71417	0.065000|0.065000	0.19835|0.19835	0.755000|0.755000	0.42902|0.42902	5.134000|5.134000	0.64770|0.64770	0.809000|0.809000	0.34255|0.34255	0.557000|0.557000	0.71058|0.71058	GCG|CGT	HDLBP	-	smart_KH_dom		0.622	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	G	NM_203346		242174571	-1	no_errors	ENST00000310931	ensembl	human	known	70_37	missense	SNP	0.994	A	A	242174571	G	A	242174571	3	1	131	1	0	0	0	0	1	0	0	0	7045	1087	38	2	721	2	HDLBP	2	242174571	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	509775	242174571	1024802	358	20498										
LRRN1	57633	genome.wustl.edu	37	chr3	3888399	3888399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaacctctgggaaggtgacAgcgagaaagacaaagatggt	13	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:3888399A>C	ENST00000319331.3	+	2	2835	c.2074A>C	c.(2074-2076)Agc>Cgc	p.S692R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	692						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGAAGGTGACAGCGAGAAAGA	0.428																																																	0													55	58	57					3																	3888399		2203	4300	6503	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2074A>C	3.37:g.3888399A>C	ENSP00000314901:p.Ser692Arg		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S692R	ENST00000319331.3	37	c.2074	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870316	0.33069	.	.	ENSG00000175928	ENST00000319331	T	0.45276	0.9	5.9	4.74	0.60224	.	0.120885	0.85682	D	0.000000	T	0.39253	0.1071	L	0.57536	1.79	0.45962	D	0.998788	B	0.13594	0.008	B	0.10450	0.005	T	0.15178	-1.0446	10	0.23891	T	0.37	.	13.1181	0.59311	0.853:0.147:0.0:0.0	.	692	Q6UXK5	LRRN1_HUMAN	R	692	ENSP00000314901:S692R	ENSP00000314901:S692R	S	+	1	0	LRRN1	3863399	1.000000	0.71417	0.972000	0.41901	0.912000	0.54170	3.181000	0.50903	1.038000	0.40049	0.528000	0.53228	AGC	LRRN1	-	NULL		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	A	NM_020873		3888399	1	no_errors	ENST00000319331	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3888399	A	C	3888399	3	2	131	1	0	0	0	0	1	0	0	0	9057	188	7	5	2076	5	LRRN1	3	3888399	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09		3888399	194134031	359	20499										
OXTR	5021	genome.wustl.edu	37	chr3	8794887	8794887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgttgaggctggccaggaGcatgacgatgatgaaggccg	17	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:8794887G>A	ENST00000316793.3	-	4	1570	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	316					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CTGGCCAGGAGCATGACGATG	0.572																																																	0													55	49	51					3																	8794887		2203	4300	6503	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.946C>T	3.37:g.8794887G>A	ENSP00000324270:p.Leu316Phe		Q15071	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.L316F	ENST00000316793.3	37	c.946	CCDS2570.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286259	0.80803	.	.	ENSG00000180914	ENST00000316793	T	0.72615	-0.67	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85531	0.1209	10	0.72032	D	0.01	-49.667	17.0133	0.86412	0.0:0.0:1.0:0.0	.	316	P30559	OXYR_HUMAN	F	316	ENSP00000324270:L316F	ENSP00000324270:L316F	L	-	1	0	OXTR	8769887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.304000	0.59104	2.655000	0.90218	0.655000	0.94253	CTC	OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn		0.572	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	G			8794887	-1	no_errors	ENST00000316793	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8794887	G	A	8794887	3	1	131	1	0	0	0	0	1	0	0	0	11362	971	34	4	227	4	OXTR	3	8794887	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4906488	8794887	189227543	360	20500										
SRGAP3	9901	genome.wustl.edu	37	chr3	9069806	9069806	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggttcctggttcgagcatttCttcttcctctgataacaaaa	7	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:9069806C>A	ENST00000383836.3	-	13	1967				SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R482I	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCGAGCATTTCTTCTTCCTCT	0.428			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													114	116	116					3																	9069806		2203	4300	6503	SO:0001627	intron_variant	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1540-1127G>T	3.37:g.9069806C>A			Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R482I	ENST00000383836.3	37	c.1445	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767085	0.90020	.	.	ENSG00000196220	ENST00000360413	T	0.20738	2.05	4.94	4.94	0.65067	.	.	.	.	.	T	0.48978	0.1530	.	.	.	0.50632	D	0.999884	D	0.64830	0.994	D	0.71870	0.975	T	0.52741	-0.8535	8	0.62326	D	0.03	.	18.1036	0.89513	0.0:1.0:0.0:0.0	.	482	O43295-2	.	I	482	ENSP00000353587:R482I	ENSP00000353587:R482I	R	-	2	0	SRGAP3	9044806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.136000	0.77285	2.447000	0.82792	0.591000	0.81541	AGA	SRGAP3	-	pfscan_RhoGAP_dom		0.428	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	C			9069806	-1	no_errors	ENST00000360413	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9069806	C	A	9069806	1	1	131	0	1	0	0	0	0	0	0	0	15177	913	32	3		3	SRGAP3	3	9069806	Intron	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	274919	9069806	188952624	361	20501										
ATP2B2	491	genome.wustl.edu	37	chr3	10443974	10443974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagaatggcggccccctcGatccaacctgcctctgcctc	10	17	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:10443974G>A	ENST00000352432.4	-	3	525	c.456C>T	c.(454-456)atC>atT	p.I152I	ATP2B2_ENST00000360273.2_Silent_p.I152I|ATP2B2_ENST00000343816.4_Silent_p.I152I|ATP2B2_ENST00000383800.4_Silent_p.I152I|ATP2B2_ENST00000397077.1_Silent_p.I152I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	152					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.I152I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCCCCCTCGATCCAACCTG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)												1	Substitution - coding silent(1)	large_intestine(1)											75	85	82					3																	10443974		2203	4300	6503	SO:0001819	synonymous_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.456C>T	3.37:g.10443974G>A			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I152	ENST00000352432.4	37	c.456	CCDS33701.1	3																																																																																			ATP2B2	-	NULL		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10443974	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	silent	SNP	0.998	A	A	10443974	G	A	10443974	2	1	131	1	0	0	0	0	0	0	0	1	1141	1048	37	1		1	ATP2B2	3	10443974	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1374168	10443974	187578456	362	20502										
SLC6A11	6538	genome.wustl.edu	37	chr3	10960013	10960013	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctctcgctgcttccccacaGggactgcatcatgctctgtt	8	16	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:10960013G>A	ENST00000254488.2	+	8	1061		c.e8-1			NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11						brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CTTCCCCACAGGGACTGCATC	0.607																																																	0													111	88	96					3																	10960013		2203	4300	6503	SO:0001630	splice_region_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.996-1G>A	3.37:g.10960013G>A			B2R6U6|Q8IYC9	Splice_Site	SNP	-	e8-1	ENST00000254488.2	37	c.996-1	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088276	0.76756	.	.	ENSG00000132164	ENST00000254488	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7388	0.85454	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A11	10935013	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	9.446000	0.97590	2.115000	0.64714	0.484000	0.47621	.	SLC6A11	-	-		0.607	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	G	NM_014229	Intron	10960013	1	no_errors	ENST00000254488	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	10960013	G	A	10960013	5	1	131	1	0	0	0	0	0	0	1	0	14704	1014	35	4	1025	4	SLC6A11	3	10960013	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	516039	10960013	187062417	363	20503										
IQSEC1	9922	genome.wustl.edu	37	chr3	12950878	12950878	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggggcgttgaagtttattaAcactttgatatctgctccgg	12	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:12950878A>C	ENST00000273221.4	-	11	2731	c.2515T>G	c.(2515-2517)Tta>Gta	p.L839V		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	839	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGTTTATTAACACTTTGATA	0.552																																																	0													113	116	115					3																	12950878		2203	4300	6503	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2515T>G	3.37:g.12950878A>C	ENSP00000273221:p.Leu839Val		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.L839V	ENST00000273221.4	37	c.2515	CCDS33703.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.76|16.76	3.212366|3.212366	0.58452|0.58452	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|T	0.52754|0.52754	0.65;0.65|0.65	4.76|4.76	-0.389|-0.389	0.12455|0.12455	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55832|0.55832	0.1945|0.1945	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	B;D;B|.	0.65815|.	0.176;0.995;0.176|.	B;D;B|.	0.79784|.	0.183;0.993;0.152|.	T|T	0.58668|0.58668	-0.7596|-0.7596	9|6	0.12103|0.87932	T|D	0.63|0	.|.	11.1101|11.1101	0.48228|0.48228	0.3844:0.0:0.6156:0.0|0.3844:0.0:0.6156:0.0	.|.	825;825;839|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	V|G	839;825;825|839	ENSP00000273221:L839V;ENSP00000402299:L825V|ENSP00000397811:V839G	ENSP00000273221:L839V|ENSP00000397811:V839G	L|V	-|-	1|2	2|0	IQSEC1|IQSEC1	12925878|12925878	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.960000|0.960000	0.62799|0.62799	2.087000|2.087000	0.41653|0.41653	-0.233000|-0.233000	0.09797|0.09797	-0.256000|-0.256000	0.11100|0.11100	TTA|GTT	IQSEC1	-	smart_Pleckstrin_homology		0.552	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	A	NM_014869		12950878	-1	no_errors	ENST00000273221	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12950878	A	C	12950878	3	2	131	1	0	0	0	0	1	0	0	0	7837	40	2	5	937	5	IQSEC1	3	12950878	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1990865	12950878	185071552	364	20504										
GRIP2	80852	genome.wustl.edu	37	chr3	14558622	14558622	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctccgccccattgtagttCgaggactcatgggctgggat	12	12	1	0	rs572869583		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14558622C>T	ENST00000273083.3	-	0	1320							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATTGTAGTTCGAGGACTCAT	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		20299	0		0	False		,,,				2504	0																0													73	80	77					3																	14558622		2052	4186	6238			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558622C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.572	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14558622	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.984	T	T	14558622	C	T	14558622	1	4	131	0	1	0	0	0	0	0	0	0	6808	884	31	1		1	GRIP2	3	14558622	RNA	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1607744	14558622	183463808	365	20505										
C3orf19	51244	genome.wustl.edu	37	chr3	14693368	14693368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accgtaggaaaaagcctttgGacgtcacggcctcctcggtg	12	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14693368G>A	ENST00000383794.3	+	1	98	c.25G>A	c.(25-27)Gac>Aac	p.D9N	AC090952.5_ENST00000424242.1_RNA|CCDC174_ENST00000303688.7_Missense_Mutation_p.D9N	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	9						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGCCTTTGGACGTCACGGC	0.582																																																	0													65	70	68					3																	14693368		1959	4146	6105	SO:0001583	missense	51244			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.25G>A	3.37:g.14693368G>A	ENSP00000373304:p.Asp9Asn		Q96CS5	Missense_Mutation	SNP	NULL	p.D9N	ENST00000383794.3	37	c.25	CCDS2620.2	3	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355157	0.41700	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.41065	1.01;1.05	4.61	4.61	0.57282	.	0.416587	0.26112	N	0.026275	T	0.31358	0.0794	N	0.20766	0.605	0.38563	D	0.949756	B	0.24823	0.112	B	0.23574	0.047	T	0.21484	-1.0244	10	0.48119	T	0.1	-18.533	16.3916	0.83542	0.0:0.0:1.0:0.0	.	9	Q6PII3	CC019_HUMAN	N	9	ENSP00000373304:D9N;ENSP00000302344:D9N	ENSP00000302344:D9N	D	+	1	0	C3orf19	14668372	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.912000	0.69948	2.388000	0.81334	0.467000	0.42956	GAC	CCDC174	-	NULL		0.582	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC174	HGNC	protein_coding	OTTHUMT00000252077.2	G	NM_016474		14693368	1	no_errors	ENST00000383794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14693368	G	A	14693368	3	1	131	1	0	0	0	0	1	0	0	0	2217	1174	41	1	27	1	C3orf19	3	14693368	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	134746	14693368	183329062	366	20506										
C3orf20	84077	genome.wustl.edu	37	chr3	14770064	14770064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtttatactcaggagaaagTcttttacgatctcagtcagg	9	7	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14770064T>C	ENST00000253697.3	+	12	2261	c.1809T>C	c.(1807-1809)agT>agC	p.S603S	C3orf20_ENST00000435614.1_Silent_p.S481S|C3orf20_ENST00000412910.1_Silent_p.S481S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	603						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGGAGAAAGTCTTTTACGAT	0.493																																																	0													85	80	82					3																	14770064		2203	4300	6503	SO:0001819	synonymous_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1809T>C	3.37:g.14770064T>C			Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.S603	ENST00000253697.3	37	c.1809	CCDS33706.1	3																																																																																			C3orf20	-	NULL		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	T	NM_032137		14770064	1	no_errors	ENST00000253697	ensembl	human	known	70_37	silent	SNP	0.000	C	C	14770064	T	C	14770064	2	2	131	1	0	0	0	0	0	0	0	1	2218	1664	58	5		5	C3orf20	3	14770064	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	76696	14770064	183252366	367	20507										
NR2C2	7182	genome.wustl.edu	37	chr3	15045440	15045440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatgaccagcccctccccaCgcatccagataatctccacc	6	19	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:15045440C>T	ENST00000425241.1	+	2	381	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NR2C2_ENST00000393102.3_Missense_Mutation_p.R7C|NR2C2_ENST00000406272.2_Missense_Mutation_p.R7C|NR2C2_ENST00000323373.6_Missense_Mutation_p.R7C			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	7					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCTCCCCACGCATCCAGAT	0.567																																																	0													127	103	111					3																	15045440		2203	4300	6503	SO:0001583	missense	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.19C>T	3.37:g.15045440C>T	ENSP00000388387:p.Arg7Cys		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R7C	ENST00000425241.1	37	c.19		3	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046048	0.93740	.	.	ENSG00000177463	ENST00000413118;ENST00000425241;ENST00000435454;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.96041	-3.89;-3.57;-3.89;-3.49;-3.89	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.71414	0.891;0.973	D	0.97509	1.0065	10	0.72032	D	0.01	.	18.5771	0.91159	0.0:1.0:0.0:0.0	.	7;7	P49116;F2YGU2	NR2C2_HUMAN;.	C	7	ENSP00000388387:R7C;ENSP00000320447:R7C;ENSP00000376814:R7C;ENSP00000401807:R7C;ENSP00000384463:R7C	ENSP00000320447:R7C	R	+	1	0	NR2C2	15020444	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.574000	0.60900	2.493000	0.84123	0.563000	0.77884	CGC	NR2C2	-	NULL		0.567	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	C	NM_003298		15045440	1	no_errors	ENST00000323373	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15045440	C	T	15045440	3	4	131	1	0	0	0	0	1	0	0	0	10647	536	19	2	21	2	NR2C2	3	15045440	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	275376	15045440	182976990	368	20508										
BTD	686	genome.wustl.edu	37	chr3	15686343	15686343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggtaccatgacatggaaaAtcccaaaagtcaccttataa	6	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:15686343A>C	ENST00000303498.5	+	4	1089	c.980A>C	c.(979-981)aAt>aCt	p.N327T	BTD_ENST00000449107.1_Missense_Mutation_p.N329T|BTD_ENST00000383778.4_Missense_Mutation_p.N307T|BTD_ENST00000437172.1_Missense_Mutation_p.N329T	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	327	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACATGGAAAATCCCAAAAGT	0.493																																																	0													60	60	60					3																	15686343		2203	4300	6503	SO:0001583	missense	686			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.980A>C	3.37:g.15686343A>C	ENSP00000306477:p.Asn327Thr		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.N327T	ENST00000303498.5	37	c.980	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.835028	0.00579	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.82	-8.98	0.00754	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.642456	0.18120	N	0.151085	T	0.57125	0.2032	N	0.00885	-1.115	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.54754	-0.8246	10	0.02654	T	1	-18.9306	18.5112	0.90917	0.1085:0.1013:0.7901:0.0	.	329;329;327	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	T	329;327;329;307	ENSP00000388212:N329T;ENSP00000306477:N327T;ENSP00000400995:N329T;ENSP00000373288:N307T	ENSP00000306477:N327T	N	+	2	0	BTD	15661347	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.404000	0.20999	-1.651000	0.01504	-0.441000	0.05720	AAT	BTD	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.493	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2	A	NM_000060		15686343	1	no_errors	ENST00000303498	ensembl	human	known	70_37	missense	SNP	0.000	C	C	15686343	A	C	15686343	3	2	131	1	0	0	0	0	1	0	0	0	1553	101	4	5	994	5	BTD	3	15686343	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	640903	15686343	182336087	369	20509										
EFHB	151651	genome.wustl.edu	37	chr3	19925929	19925929	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctcctacaattgcattgatCtcagaagaagttgtcttata	7	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:19925929C>A	ENST00000295824.9	-	11	2273	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	EFHB_ENST00000344838.4_Missense_Mutation_p.E574D	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	704							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTGCATTGATCTCAGAAGAAG	0.378																																																	0													104	100	102					3																	19925929		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2112G>T	3.37:g.19925929C>A	ENSP00000295824:p.Glu704Asp		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E704D	ENST00000295824.9	37	c.2112	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204669	0.22205	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.25085	1.82;1.86	5.67	4.79	0.61399	.	0.342445	0.28031	N	0.016880	T	0.25827	0.0629	M	0.63428	1.95	0.29390	N	0.862673	B;B	0.14438	0.01;0.004	B;B	0.15484	0.013;0.002	T	0.13522	-1.0506	9	.	.	.	-18.5777	10.269	0.43473	0.1369:0.7934:0.0:0.0697	.	574;704	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	D	704;574	ENSP00000295824:E704D;ENSP00000342263:E574D	.	E	-	3	2	EFHB	19900933	0.995000	0.38212	1.000000	0.80357	0.666000	0.39218	0.212000	0.17497	1.376000	0.46267	0.650000	0.86243	GAG	EFHB	-	NULL		0.378	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	C	NM_144715		19925929	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19925929	C	A	19925929	3	1	131	1	0	0	0	0	1	0	0	0	4955	912	32	3	401	3	EFHB	3	19925929	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4239586	19925929	178096501	370	20510										
SGOL1	151648	genome.wustl.edu	37	chr3	20202665	20202665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatctcgaaacaaattctcGaacataatataaaataaaaa	3	6	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:20202665G>A	ENST00000263753.4	-	9	1757	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	SGOL1_ENST00000452020.1_Nonsense_Mutation_p.R271*|SGOL1_ENST00000419233.2_Nonsense_Mutation_p.R288*|SGOL1_ENST00000383774.1_Nonsense_Mutation_p.R194*|SGOL1_ENST00000443724.1_Nonsense_Mutation_p.R194*|SGOL1_ENST00000306698.2_Nonsense_Mutation_p.R271*|SGOL1_ENST00000425061.1_Nonsense_Mutation_p.R288*|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R540*	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	540					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.R540*(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						acaaattctcgaacataatat	0.388																																																	1	Substitution - Nonsense(1)	large_intestine(1)											73	77	76					3																	20202665		2203	4300	6503	SO:0001587	stop_gained	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1618C>T	3.37:g.20202665G>A	ENSP00000263753:p.Arg540*		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Nonsense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.R540*	ENST00000263753.4	37	c.1618	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465390	0.26335	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020	.	.	.	1.57	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3172	0.04201	0.3748:0.0:0.377:0.2482	.	.	.	.	X	271;288;540;194;288;194;540;271	.	ENSP00000263753:R540X	R	-	1	2	SGOL1	20177669	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.780000	0.01775	-1.058000	0.03197	-0.693000	0.03709	CGA	SGOL1	-	NULL		0.388	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	G	NM_138484		20202665	-1	no_errors	ENST00000263753	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	20202665	G	A	20202665	4	1	131	1	0	0	0	0	0	1	0	0	14246	1066	37	1	71	1	SGOL1	3	20202665	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	276736	20202665	177819765	371	20511										
RARB	5915	genome.wustl.edu	37	chr3	25636077	25636077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accattgctggaagcactaaAaatttatatcagaaaaagac	6	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:25636077A>C	ENST00000404969.1	+	7	1079	c.1079A>C	c.(1078-1080)aAa>aCa	p.K360T	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.K241T|RARB_ENST00000330688.4_Missense_Mutation_p.K353T|RARB_ENST00000437042.2_Missense_Mutation_p.K241T			P10826	RARB_HUMAN	retinoic acid receptor, beta	360	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAGCACTAAAAATTTATATC	0.393																																																	0													84	86	85					3																	25636077		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1079A>C	3.37:g.25636077A>C	ENSP00000385865:p.Lys360Thr		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.K360T	ENST00000404969.1	37	c.1079		3	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864648	0.91511	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09	5.17	5.17	0.71159	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.83275	0.993;0.996	D	0.98748	1.0719	10	0.87932	D	0	.	15.2983	0.73928	1.0:0.0:0.0:0.0	.	360;353	P10826;F1D8S6	RARB_HUMAN;.	T	360;360;360;241;353;241	ENSP00000373282:K360T;ENSP00000385865:K360T;ENSP00000398840:K241T;ENSP00000332296:K353T;ENSP00000391391:K241T	ENSP00000332296:K353T	K	+	2	0	RARB	25611081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.076000	0.62316	0.482000	0.46254	AAA	RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4		0.393	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		A	NM_000965, NM_016152		25636077	1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25636077	A	C	25636077	3	2	131	1	0	0	0	0	1	0	0	0	13083	14	1	5	1084	5	RARB	3	25636077	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	5433412	25636077	172386353	372	20512										
NEK10	152110	genome.wustl.edu	37	chr3	27297822	27297822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttccaaccacagaggtgagTttactgttttcttgtttttg	9	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:27297822T>G	ENST00000429845.2	-	24	2417	c.2055A>C	c.(2053-2055)aaA>aaC	p.K685N	NEK10_ENST00000357467.2_Missense_Mutation_p.K82N|NEK10_ENST00000341435.5_Missense_Mutation_p.K685N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGAGGTGAGTTTACTGTTTT	0.348																																																	0													126	121	123					3																	27297822		2202	4300	6502	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2055A>C	3.37:g.27297822T>G	ENSP00000395849:p.Lys685Asn		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K685N	ENST00000429845.2	37	c.2055		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.64|13.64|13.64	2.297282|2.297282|2.297282	0.40694|0.40694|0.40694	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435|ENST00000424275|ENST00000435584	T;T|.|.	0.65916|.|.	-0.18;-0.18|.|.	4.96|4.96|4.96	0.83|0.83|0.83	0.18854|0.18854|0.18854	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.34164|0.34164|0.34164	0.0888|0.0888|0.0888	L|L|L	0.28014|0.28014|0.28014	0.82|0.82|0.82	0.32490|0.32490|0.32490	N|N|N	0.540323|0.540323|0.540323	P;B|.|.	0.44006|.|.	0.824;0.071|.|.	B;B|.|.	0.43575|.|.	0.424;0.078|.|.	T|T|T	0.41466|0.41466|0.41466	-0.9507|-0.9507|-0.9507	9|5|5	0.25106|.|.	T|.|.	0.35|.|.	.|.|.	7.1221|7.1221|7.1221	0.25450|0.25450|0.25450	0.0:0.3466:0.0:0.6534|0.0:0.3466:0.0:0.6534|0.0:0.3466:0.0:0.6534	.|.|.	685;82|.|.	Q6ZWH5;Q8N774|.|.	NEK10_HUMAN;.|.|.	N|T|P	82;685|172|142	ENSP00000350059:K82N;ENSP00000343847:K685N|.|.	ENSP00000343847:K685N|.|.	K|N|T	-|-|-	3|2|1	2|0|0	NEK10|NEK10|NEK10	27272826|27272826|27272826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	0.805000|0.805000|0.805000	0.27112|0.27112|0.27112	-0.031000|-0.031000|-0.031000	0.13781|0.13781|0.13781	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	AAA|AAC|ACT	NEK10	-	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		0.348	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	T	NM_152534		27297822	-1	no_errors	ENST00000341435	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27297822	T	G	27297822	3	3	131	1	0	0	0	0	1	0	0	0	10346	1722	60	5	91	5	NEK10	3	27297822	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1661745	27297822	170724608	373	20513										
AZI2	64343	genome.wustl.edu	37	chr3	28378263	28378263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtagttctattttgagatCgctacattctttcctcatca	5	10	4	1	rs201211825		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:28378263C>T	ENST00000479665.1	-	5	1084	c.553G>A	c.(553-555)Gat>Aat	p.D185N	AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.D185N|AZI2_ENST00000457172.1_Missense_Mutation_p.D185N|AZI2_ENST00000420543.2_Missense_Mutation_p.D185N	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	185	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						ATTTTGAGATCGCTACATTCT	0.358																																																	0													184	170	174					3																	28378263		2203	4300	6503	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.553G>A	3.37:g.28378263C>T	ENSP00000419371:p.Asp185Asn		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.D185N	ENST00000479665.1	37	c.553	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904642	0.17760	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162	.	.	.	5.92	-1.09	0.09904	.	0.572011	0.20016	N	0.101012	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.003;0.006;0.001;0.001	B;B;B;B	0.08055	0.0;0.003;0.002;0.001	T	0.20306	-1.0279	9	0.20519	T	0.43	-12.3849	5.572	0.17202	0.0:0.2249:0.2742:0.5009	.	185;185;185;185	Q9H6S1-3;C9JB40;C9JVK8;Q9H6S1	.;.;.;AZI2_HUMAN	N	185	.	ENSP00000335609:D185N	D	-	1	0	AZI2	28353267	0.005000	0.15991	0.100000	0.21137	0.897000	0.52465	0.042000	0.13949	0.108000	0.17862	0.650000	0.86243	GAT	AZI2	-	NULL		0.358	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	C	NM_203326		28378263	-1	no_errors	ENST00000479665	ensembl	human	known	70_37	missense	SNP	0.001	T	T	28378263	C	T	28378263	3	4	131	1	0	0	0	0	1	0	0	0	1242	884	31	1	730	1	AZI2	3	28378263	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1080441	28378263	169644167	374	20514										
RBMS3	27303	genome.wustl.edu	37	chr3	29781258	29781258	+	Missense_Mutation	SNP	T	T	G													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacatctcaaatctccccatTtctatggatgagcaggagct							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:29781258T>G	ENST00000383767.2	+	5	783	c.447T>G	c.(445-447)atT>atG	p.I149M	RBMS3_ENST00000456853.1_Missense_Mutation_p.I149M|RBMS3_ENST00000452462.1_Missense_Mutation_p.I149M|RBMS3_ENST00000434693.2_Missense_Mutation_p.I148M|RBMS3_ENST00000273139.9_Missense_Mutation_p.I149M|RBMS3_ENST00000445033.1_Missense_Mutation_p.I149M|RBMS3_ENST00000396583.3_Missense_Mutation_p.I149M|RBMS3_ENST00000383766.2_Missense_Mutation_p.I148M			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	149	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ATCTCCCCATTTCTATGGATG	0.408																																																	0													172	166	168					3																	29781258		2203	4300	6503	SO:0001583	missense	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.447T>G	3.37:g.29781258T>G	ENSP00000373277:p.Ile149Met		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.I149M	ENST00000383767.2	37	c.447	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316330	0.40996	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.52	3.19	0.36642	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.062767	0.64402	D	0.000003	T	0.09555	0.0235	N	0.24115	0.695	0.35438	D	0.79461	B;B;B;B	0.16603	0.006;0.001;0.001;0.018	B;B;B;B	0.23018	0.015;0.015;0.009;0.043	T	0.19582	-1.0301	9	.	.	.	.	4.8881	0.13713	0.0:0.231:0.1494:0.6195	.	149;149;148;149	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	M	148;149;149;149;149;148;149;149	ENSP00000395592:I148M;ENSP00000379828:I149M;ENSP00000373277:I149M;ENSP00000391934:I149M;ENSP00000273139:I149M;ENSP00000373276:I148M;ENSP00000397926:I149M;ENSP00000400519:I149M	.	I	+	3	3	RBMS3	29756262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.680000	0.37607	0.945000	0.37605	0.460000	0.39030	ATT	RBMS3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA		0.408	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	T	NM_001003792		29781258	1	no_errors	ENST00000383767	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29781258	T	G	29781258	3	3	131	1	0	0	0	0	1	0	0	0	13180	1829	64	5	465	5	RBMS3	3	29781258	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1402995	29781258	168241172	375	20515	121	2								
RBMS3	27303	genome.wustl.edu	37	chr3	29781260	29781260	+	Missense_Mutation	SNP	C	C	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catctcaaatctccccatttCtatggatgagcaggagcttg							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:29781260C>A	ENST00000383767.2	+	5	785	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	RBMS3_ENST00000456853.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000434693.2_Missense_Mutation_p.S149Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S150Y|RBMS3_ENST00000445033.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000396583.3_Missense_Mutation_p.S150Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.S149Y			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.S150Y(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTCCCCATTTCTATGGATGAG	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											173	166	168					3																	29781260		2203	4300	6503	SO:0001583	missense	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.449C>A	3.37:g.29781260C>A	ENSP00000373277:p.Ser150Tyr		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.S150Y	ENST00000383767.2	37	c.449	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161235	0.78226	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.75704	-0.96;2.27;-0.96;-0.96;-0.96;2.27;-0.96;2.27	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.62088	1.915	0.80722	D	1	B;B;B;B	0.34181	0.386;0.045;0.386;0.44	B;B;P;P	0.46237	0.374;0.268;0.474;0.508	T	0.76735	-0.2850	9	.	.	.	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	150;150;149;150	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Y	149;150;150;150;150;149;150;150	ENSP00000395592:S149Y;ENSP00000379828:S150Y;ENSP00000373277:S150Y;ENSP00000391934:S150Y;ENSP00000273139:S150Y;ENSP00000373276:S149Y;ENSP00000397926:S150Y;ENSP00000400519:S150Y	.	S	+	2	0	RBMS3	29756264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.590000	0.87494	0.563000	0.77884	TCT	RBMS3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA		0.413	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	C	NM_001003792		29781260	1	no_errors	ENST00000383767	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29781260	C	A	29781260	3	1	131	1	0	0	0	0	1	0	0	0	13180	913	32	3	467	3	RBMS3	3	29781260	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2	29781260	168241170	376	20516	121	2								
GPD1L	23171	genome.wustl.edu	37	chr3	32207342	32207342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagtgtatcagatctgctaCgaaagcagaccagttcaaga	10	9	3	3	rs149423659	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:32207342C>T	ENST00000282541.5	+	8	1197	c.996C>T	c.(994-996)taC>taT	p.Y332Y		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	332					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						AGATCTGCTACGAAAGCAGAC	0.423																																																	0								C		0,4406		0,0,2203	211	178	189		996	-6.9	0.6	3	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPD1L	NM_015141.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		332/352	32207342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.996C>T	3.37:g.32207342C>T			A8K9U3|Q14702|Q9BRM5	Silent	SNP	pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.Y332	ENST00000282541.5	37	c.996	CCDS33729.1	3																																																																																			GPD1L	-	pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk		0.423	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1L	HGNC	protein_coding	OTTHUMT00000341975.2	C	NM_015141		32207342	1	no_errors	ENST00000282541	ensembl	human	known	70_37	silent	SNP	0.463	T	T	32207342	C	T	32207342	2	4	131	1	0	0	0	0	0	0	0	1	6624	547	19	2		2	GPD1L	3	32207342	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2426082	32207342	165815088	377	20517										
CNOT10	25904	genome.wustl.edu	37	chr3	32801030	32801030	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgaatcatgcagataaacTtcttcagcagcccaagctgt	7	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:32801030T>G	ENST00000328834.5	+	14	1992	c.1676T>G	c.(1675-1677)cTt>cGt	p.L559R	CNOT10_ENST00000538368.1_Missense_Mutation_p.L331R|CNOT10_ENST00000331889.6_Missense_Mutation_p.L532R|CNOT10_ENST00000454516.2_Missense_Mutation_p.L619R	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	559					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GCAGATAAACTTCTTCAGCAG	0.463																																																	0													355	343	347					3																	32801030		2203	4300	6503	SO:0001583	missense	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1676T>G	3.37:g.32801030T>G	ENSP00000330060:p.Leu559Arg		B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.L619R	ENST00000328834.5	37	c.1856	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773836	0.90108	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T;T;T	0.60797	1.47;1.47;0.16;1.47;1.11	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.995;0.999;0.998	T	0.81707	-0.0810	10	0.72032	D	0.01	-13.8055	16.1773	0.81862	0.0:0.0:0.0:1.0	.	619;532;558;559	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	R	532;559;331;619;106	ENSP00000329376:L532R;ENSP00000330060:L559R;ENSP00000442552:L331R;ENSP00000399862:L619R;ENSP00000395385:L106R	ENSP00000330060:L559R	L	+	2	0	CNOT10	32776034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.777000	0.85628	2.217000	0.71921	0.482000	0.46254	CTT	CNOT10	-	NULL		0.463	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	T	NM_015442		32801030	1	no_errors	ENST00000454516	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32801030	T	G	32801030	3	3	131	1	0	0	0	0	1	0	0	0	3623	1609	56	5	1730	5	CNOT10	3	32801030	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	593688	32801030	165221400	378	20518										
GLB1	2720	genome.wustl.edu	37	chr3	33109756	33109756	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggagaagaatagactctttCtctagcagccaagcaggtaa	10	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:33109756C>A	ENST00000399402.3	-	4	464	c.333G>T	c.(331-333)gaG>gaT	p.E111D	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.E141D|GLB1_ENST00000445488.2_Missense_Mutation_p.E189D	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	141					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TAGACTCTTTCTCTAGCAGCC	0.463																																																	0													81	81	81					3																	33109756		1857	4089	5946	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.333G>T	3.37:g.33109756C>A	ENSP00000382333:p.Glu111Asp		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E189D	ENST00000399402.3	37	c.567	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338271	0.24253	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.26	-0.106	0.13596	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.634360	0.17132	N	0.185790	D	0.92662	0.7668	N	0.20881	0.62	0.33052	D	0.532912	B;B;B	0.17667	0.023;0.023;0.023	B;B;B	0.19391	0.025;0.025;0.025	D	0.87123	0.2192	10	0.39692	T	0.17	-6.1129	6.3057	0.21137	0.0:0.4272:0.1227:0.4501	.	141;141;189	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	D	111;141;189;10	ENSP00000382333:E111D;ENSP00000306920:E141D;ENSP00000393377:E189D;ENSP00000411769:E10D	ENSP00000306920:E141D	E	-	3	2	GLB1	33084760	0.998000	0.40836	0.135000	0.22099	0.662000	0.39071	0.640000	0.24705	-0.071000	0.12886	-0.229000	0.12294	GAG	GLB1	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF		0.463	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	C	NM_000404		33109756	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	missense	SNP	0.562	A	A	33109756	C	A	33109756	3	1	131	1	0	0	0	0	1	0	0	0	6446	912	32	3	1662	3	GLB1	3	33109756	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	308726	33109756	164912674	379	20519										
PDCD6IP	10015	genome.wustl.edu	37	chr3	33866819	33866819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctcaagaagtattttttttAaaagccacaagaggtaactc	7	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:33866819A>T	ENST00000307296.3	+	5	980	c.603A>T	c.(601-603)ttA>ttT	p.L201F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.L201F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TATTTTTTTTAAAAGCCACAA	0.358																																																	0													92	99	96					3																	33866819		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.603A>T	3.37:g.33866819A>T	ENSP00000307387:p.Leu201Phe		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.L201F	ENST00000307296.3	37	c.603	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129070	0.56721	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	T;T;T	0.19250	2.16;2.16;2.16	5.6	4.39	0.52855	BRO1 domain (3);	0.000000	0.64402	D	0.000001	T	0.13884	0.0336	L	0.38692	1.165	0.80722	D	1	B;B;B	0.30406	0.278;0.278;0.278	B;B;B	0.28553	0.091;0.036;0.056	T	0.06734	-1.0810	10	0.12766	T	0.61	-6.917	8.766	0.34702	0.7785:0.1412:0.0803:0.0	.	201;201;201	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	F	201;201;151	ENSP00000307387:L201F;ENSP00000411825:L201F;ENSP00000406693:L151F	ENSP00000307387:L201F	L	+	3	2	PDCD6IP	33841823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.900000	0.39828	2.141000	0.66446	0.533000	0.62120	TTA	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.358	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	A			33866819	1	no_errors	ENST00000457054	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33866819	A	T	33866819	3	4	131	1	0	0	0	0	1	0	0	0	11648	359	13	5	621	5	PDCD6IP	3	33866819	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	757063	33866819	164155611	380	20520										
PDCD6IP	10015	genome.wustl.edu	37	chr3	33906839	33906839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgggggctgggactgctgcGccagctccatcacaaacgcc	14	14	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:33906839G>A	ENST00000307296.3	+	17	2726	c.2349G>A	c.(2347-2349)gcG>gcA	p.A783A	PDCD6IP_ENST00000457054.2_Silent_p.A788A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	783	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GGACTGCTGCGCCAGCTCCAT	0.617																																																	0													49	46	47					3																	33906839		2203	4300	6503	SO:0001819	synonymous_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2349G>A	3.37:g.33906839G>A			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.A788	ENST00000307296.3	37	c.2364	CCDS2660.1	3																																																																																			PDCD6IP	-	NULL		0.617	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	G			33906839	1	no_errors	ENST00000457054	ensembl	human	known	70_37	silent	SNP	0.000	A	A	33906839	G	A	33906839	2	1	131	1	0	0	0	0	0	0	0	1	11648	1074	38	2		2	PDCD6IP	3	33906839	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	40020	33906839	164115591	381	20521										
ARPP21	10777	genome.wustl.edu	37	chr3	35785388	35785388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctcaaccacgcaacagtacCggcccatggccccggttcag	9	18	2	0	rs375827523		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:35785388C>T	ENST00000187397.4	+	18	2419	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	ARPP21_ENST00000458225.1_Missense_Mutation_p.R656W|ARPP21_ENST00000417925.1_Missense_Mutation_p.R656W|ARPP21_ENST00000337271.5_Missense_Mutation_p.R636W|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Missense_Mutation_p.R636W	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	655	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.R655W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAACAGTACCGGCCCATGGC	0.493																																																	1	Substitution - Missense(1)	prostate(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	122	116	118		1963	4.9	1	3		118	0,8600		0,0,4300	no	missense	ARPP21	NM_016300.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	655/813	35785388	1,13005	2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1963C>T	3.37:g.35785388C>T	ENSP00000187397:p.Arg655Trp		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R656W	ENST00000187397.4	37	c.1966	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344605	0.82022	2.27E-4	0.0	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.82	4.9	0.64082	.	0.000000	0.64402	D	0.000013	T	0.71039	0.3293	M	0.78637	2.42	0.41741	D	0.989616	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.74340	-0.3697	10	0.87932	D	0	-27.7839	11.8217	0.52242	0.269:0.731:0.0:0.0	.	656;178;655;636	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	W	656;636;636;655;656	ENSP00000414351:R656W;ENSP00000337792:R636W;ENSP00000405276:R636W;ENSP00000187397:R655W;ENSP00000412326:R656W	ENSP00000187397:R655W	R	+	1	2	ARPP21	35760392	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.218000	0.42889	2.740000	0.93945	0.655000	0.94253	CGG	ARPP21	-	NULL		0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35785388	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35785388	C	T	35785388	3	4	131	1	0	0	0	0	1	0	0	0	979	643	23	2	2038	2	ARPP21	3	35785388	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1878549	35785388	162237042	382	20522										
GOLGA4	2803	genome.wustl.edu	37	chr3	37367213	37367213	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaattagaagcacaacttaGacagttgacagaggagcaaa	10	6	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:37367213G>A	ENST00000361924.2	+	14	4210	c.3836G>A	c.(3835-3837)aGa>aAa	p.R1279K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1301K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1279	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCACAACTTAGACAGTTGACA	0.343																																																	0													52	54	53					3																	37367213		2168	4285	6453	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3836G>A	3.37:g.37367213G>A	ENSP00000354486:p.Arg1279Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R1279K	ENST00000361924.2	37	c.3836	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	1.136	-0.651091	0.03506	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23348	1.91;1.92;1.92	5.2	-0.0482	0.13840	.	0.198923	0.25151	N	0.032760	T	0.19485	0.0468	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.20052	0.041;0.019;0.019;0.011	B;B;B;B	0.17722	0.011;0.011;0.019;0.009	T	0.34725	-0.9817	10	0.12430	T	0.62	.	6.4964	0.22144	0.2859:0.3205:0.3936:0.0	.	1279;1279;1301;1279	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1279;1301;1150	ENSP00000354486:R1279K;ENSP00000349305:R1301K;ENSP00000405842:R1150K	ENSP00000349305:R1301K	R	+	2	0	GOLGA4	37342217	0.000000	0.05858	0.665000	0.29768	0.227000	0.25037	-0.664000	0.05292	-0.236000	0.09753	0.563000	0.77884	AGA	GOLGA4	-	NULL		0.343	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37367213	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.036	A	A	37367213	G	A	37367213	3	1	131	1	0	0	0	0	1	0	0	0	6574	942	33	1	3960	1	GOLGA4	3	37367213	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1581825	37367213	160655217	383	20523										
VILL	50853	genome.wustl.edu	37	chr3	38045873	38045873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaagtatgacatcatgttaCtggacacctggcaggaggta	11	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:38045873C>A	ENST00000283713.6	+	16	2199	c.1933C>A	c.(1933-1935)Ctg>Atg	p.L645M	VILL_ENST00000383759.2_Missense_Mutation_p.L645M|VILL_ENST00000465644.1_Missense_Mutation_p.L363M			O15195	VILL_HUMAN	villin-like	645					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATCATGTTACTGGACACCTG	0.567											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	68	72					3																	38045873		2203	4300	6503	SO:0001583	missense	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1933C>A	3.37:g.38045873C>A	ENSP00000283713:p.Leu645Met	875	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.L645M	ENST00000283713.6	37	c.1933	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579523	0.65878	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.70516	-0.49;-0.49;-0.49	3.65	2.76	0.32466	Gelsolin domain (1);	0.000000	0.64402	D	0.000002	D	0.85478	0.5706	M	0.90922	3.16	0.45216	D	0.998229	D	0.89917	1.0	D	0.91635	0.999	D	0.87248	0.2271	10	0.87932	D	0	-14.6148	11.3379	0.49516	0.0:0.907:0.0:0.093	.	645	O15195	VILL_HUMAN	M	645;645;631;363	ENSP00000283713:L645M;ENSP00000373266:L645M;ENSP00000422096:L363M	ENSP00000283713:L645M	L	+	1	2	VILL	38020877	1.000000	0.71417	0.880000	0.34516	0.936000	0.57629	3.165000	0.50778	0.877000	0.35895	0.400000	0.26472	CTG	VILL	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin		0.567	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	C	NM_015873		38045873	1	no_errors	ENST00000283713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38045873	C	A	38045873	3	1	131	1	0	0	0	0	1	0	0	0	17196	564	20	4	1991	4	VILL	3	38045873	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	678660	38045873	159976557	384	20524										
SCN11A	11280	genome.wustl.edu	37	chr3	38888327	38888327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaccttcatcatgtactttCgaaaggccttttgaataata	5	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:38888327C>T	ENST00000302328.3	-	26	5432	c.5234G>A	c.(5233-5235)cGa>cAa	p.R1745Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.R1745Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1707Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1745					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTACTTTCGAAAGGCCTT	0.458																																																	0													254	238	244					3																	38888327		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5234G>A	3.37:g.38888327C>T	ENSP00000307599:p.Arg1745Gln		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R1745Q	ENST00000302328.3	37	c.5234	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.349612	0.95830	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97752	-4.52;-4.52;-4.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	M	0.92317	3.295	0.52501	D	0.999957	D	0.89917	1.0	D	0.87578	0.998	D	0.99497	1.0952	10	0.87932	D	0	.	19.2029	0.93719	0.0:1.0:0.0:0.0	.	1745	Q9UI33	SCNBA_HUMAN	Q	1745;1745;1707	ENSP00000307599:R1745Q;ENSP00000400945:R1745Q;ENSP00000416757:R1707Q	ENSP00000307599:R1745Q	R	-	2	0	SCN11A	38863331	1.000000	0.71417	0.982000	0.44146	0.919000	0.55068	7.748000	0.85085	2.515000	0.84797	0.650000	0.86243	CGA	SCN11A	-	NULL		0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38888327	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38888327	C	T	38888327	3	4	131	1	0	0	0	0	1	0	0	0	13943	884	31	1	145	1	SCN11A	3	38888327	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	842454	38888327	159134103	385	20525										
SCN11A	11280	genome.wustl.edu	37	chr3	38936403	38936403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccttctaagtttccatttCtttcctcattgctaaaggaa	4	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:38936403C>A	ENST00000302328.3	-	15	2654	c.2456G>T	c.(2455-2457)aGa>aTa	p.R819I	SCN11A_ENST00000444237.2_Missense_Mutation_p.R819I|SCN11A_ENST00000450244.1_Missense_Mutation_p.R819I|SCN11A_ENST00000456224.3_Missense_Mutation_p.R819I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	819					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTCCATTTCTTTCCTCATT	0.448																																																	0													82	75	77					3																	38936403		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2456G>T	3.37:g.38936403C>A	ENSP00000307599:p.Arg819Ile		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R819I	ENST00000302328.3	37	c.2456	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327258	0.60743	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96200	-3.94;-3.94;-3.89;-3.81	4.86	2.04	0.26737	.	1.268710	0.05535	N	0.564634	D	0.90417	0.7000	L	0.29908	0.895	0.24027	N	0.996121	P	0.45283	0.855	B	0.38327	0.271	D	0.84072	0.0380	10	0.52906	T	0.07	.	4.3159	0.10993	0.0:0.4604:0.234:0.3056	.	819	Q9UI33	SCNBA_HUMAN	I	819	ENSP00000307599:R819I;ENSP00000400945:R819I;ENSP00000416757:R819I;ENSP00000408028:R819I	ENSP00000307599:R819I	R	-	2	0	SCN11A	38911407	0.000000	0.05858	0.699000	0.30290	0.892000	0.51952	-0.004000	0.12878	0.733000	0.32492	0.655000	0.94253	AGA	SCN11A	-	NULL		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38936403	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.364	A	A	38936403	C	A	38936403	3	1	131	1	0	0	0	0	1	0	0	0	13943	913	32	3	2967	3	SCN11A	3	38936403	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	48076	38936403	159086027	386	20526										
TTC21A	199223	genome.wustl.edu	37	chr3	39159650	39159650	+	Silent	SNP	T	T	C													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaaacatgaccacagtaagTtctttgaagactcagaaggt							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39159650T>C	ENST00000431162.2	+	7	941	c.807T>C	c.(805-807)agT>agC	p.S269S	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Silent_p.S269S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	269										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCACAGTAAGTTCTTTGAAGA	0.458																																																	0													129	125	126					3																	39159650		1937	4165	6102	SO:0001819	synonymous_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.807T>C	3.37:g.39159650T>C			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S269	ENST00000431162.2	37	c.807	CCDS46800.1	3																																																																																			TTC21A	-	NULL		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	T	NM_145755		39159650	1	no_errors	ENST00000301819	ensembl	human	known	70_37	silent	SNP	0.935	C	C	39159650	T	C	39159650	2	2	131	1	0	0	0	0	0	0	0	1	16718	1722	60	5		5	TTC21A	3	39159650	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	223247	39159650	158862780	387	20527	122	2								
TTC21A	199223	genome.wustl.edu	37	chr3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaacatgaccacagtaagttCtttgaagactcagaaggtga					rs373627662		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39159652C>A	ENST00000431162.2	+	7	943	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Missense_Mutation_p.S270Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270								p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458																																																	2	Substitution - Missense(2)	large_intestine(2)											127	123	124					3																	39159652		1935	4165	6100	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.809C>A	3.37:g.39159652C>A	ENSP00000398211:p.Ser270Tyr		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S270Y	ENST00000431162.2	37	c.809	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846160	0.16963	.	.	ENSG00000168026	ENST00000301819;ENST00000431162	T;T	0.58940	0.3;0.3	4.77	0.696	0.18075	.	0.637751	0.13895	N	0.355340	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	5.2219	0.15373	0.1242:0.5492:0.2423:0.0843	.	270;270	Q8NDW8-7;Q8NDW8	.;TT21A_HUMAN	Y	270	ENSP00000301819:S270Y;ENSP00000398211:S270Y	ENSP00000301819:S270Y	S	+	2	0	TTC21A	39134656	0.000000	0.05858	0.055000	0.19348	0.027000	0.11550	0.005000	0.13129	-0.111000	0.12001	-1.150000	0.01838	TCT	TTC21A	-	NULL		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	C	NM_145755		39159652	1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.077	A	A	39159652	C	A	39159652	3	1	131	1	0	0	0	0	1	0	0	0	16718	913	32	3	835	3	TTC21A	3	39159652	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2	39159652	158862778	388	20528	122	2								
TTC21A	199223	genome.wustl.edu	37	chr3	39161495	39161495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctccatcttaaaaaaattaTtgtggttagccgactggtaa	7	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39161495T>G	ENST00000431162.2	+	8	1042	c.908T>G	c.(907-909)aTt>aGt	p.I303S	TTC21A_ENST00000440121.1_Missense_Mutation_p.I254S|TTC21A_ENST00000301819.6_Missense_Mutation_p.I303S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	303										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAAAAATTATTGTGGTTAGC	0.458																																																	0													73	79	77					3																	39161495		1840	4087	5927	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.908T>G	3.37:g.39161495T>G	ENSP00000398211:p.Ile303Ser		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I303S	ENST00000431162.2	37	c.908	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868514	0.32977	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.34275	1.37;1.37;1.37	5.67	3.1	0.35709	.	0.831564	0.10670	N	0.647614	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B;B;B	0.25105	0.118;0.019;0.011	B;B;B	0.26517	0.07;0.031;0.014	T	0.22034	-1.0228	10	0.08381	T	0.77	-1.3721	7.721	0.28731	0.0:0.0758:0.1396:0.7846	.	254;303;303	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	S	303;295;303;254	ENSP00000301819:I303S;ENSP00000398211:I303S;ENSP00000410882:I254S	ENSP00000301819:I303S	I	+	2	0	TTC21A	39136499	0.005000	0.15991	0.091000	0.20842	0.994000	0.84299	1.516000	0.35856	2.164000	0.68074	0.533000	0.62120	ATT	TTC21A	-	NULL		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	T	NM_145755		39161495	1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.001	G	G	39161495	T	G	39161495	3	3	131	1	0	0	0	0	1	0	0	0	16718	1493	52	5	938	5	TTC21A	3	39161495	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1843	39161495	158860935	389	20529										
CX3CR1	1524	genome.wustl.edu	37	chr3	39323113	39323113	+	5'Flank	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacttaccccactggccattCtccacccagaagccagagag	7	17	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39323113C>A	ENST00000541347.1	-	0	0				CX3CR1_ENST00000358309.3_Missense_Mutation_p.R25I|CX3CR1_ENST00000542107.1_5'Flank|CX3CR1_ENST00000399220.2_5'Flank	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1						cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		actggccattctccacccaga	0.522																																																	0													89	85	87					3																	39323113		1568	3582	5150	SO:0001631	upstream_gene_variant	1524			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249		3.37:g.39323113C>A	Exception_encountered		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.R25I	ENST00000541347.1	37	c.74	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298919	0.40694	.	.	ENSG00000168329	ENST00000358309	T	0.66815	-0.23	1.96	1.96	0.26148	.	.	.	.	.	T	0.63153	0.2487	.	.	.	0.22745	N	0.998781	.	.	.	.	.	.	T	0.56565	-0.7958	6	0.59425	D	0.04	.	7.4334	0.27141	0.0:1.0:0.0:0.0	.	.	.	.	I	25	ENSP00000351059:R25I	ENSP00000351059:R25I	R	-	2	0	CX3CR1	39298117	0.000000	0.05858	0.081000	0.20488	0.189000	0.23516	-0.443000	0.06862	1.422000	0.47177	0.655000	0.94253	AGA	CX3CR1	-	NULL		0.522	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	C	NM_001337		39323113	-1	no_errors	ENST00000358309	ensembl	human	known	70_37	missense	SNP	0.090	A	A	39323113	C	A	39323113	1	1	131	0	1	0	0	0	0	0	0	0	4080	913	32	3		3	CX3CR1	3	39323113	5'Flank	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	161618	39323113	158699317	390	20530										
ENTPD3	956	genome.wustl.edu	37	chr3	40456324	40456324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caactatttaatgggaaattTcctggaggtgtgtgcaaaca	10	6	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:40456324T>G	ENST00000301825.3	+	6	708	c.590T>G	c.(589-591)tTc>tGc	p.F197C	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.F197C|ENTPD3_ENST00000456402.1_Missense_Mutation_p.F197C	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	197					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ATGGGAAATTTCCTGGAGGTG	0.423																																																	0													193	198	196					3																	40456324		2203	4300	6503	SO:0001583	missense	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.590T>G	3.37:g.40456324T>G	ENSP00000301825:p.Phe197Cys		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.F197C	ENST00000301825.3	37	c.590	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068611	0.76301	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.15718	2.4;2.4;2.4	5.48	5.48	0.80851	.	0.043655	0.85682	D	0.000000	T	0.49321	0.1550	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59231	-0.7493	10	0.87932	D	0	-26.9945	13.8328	0.63391	0.0:0.0:0.0:1.0	.	197	O75355	ENTP3_HUMAN	C	197	ENSP00000301825:F197C;ENSP00000401565:F197C;ENSP00000404671:F197C	ENSP00000301825:F197C	F	+	2	0	ENTPD3	40431328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.227000	0.72691	0.460000	0.39030	TTC	ENTPD3	-	pfam_GDA1_CD39_NTPase		0.423	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	HGNC	protein_coding	OTTHUMT00000254179.2	T	NM_001248		40456324	1	no_errors	ENST00000301825	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40456324	T	G	40456324	3	3	131	1	0	0	0	0	1	0	0	0	5152	1783	62	5	608	5	ENTPD3	3	40456324	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1133211	40456324	157566106	391	20531										
CTNNB1	1499	genome.wustl.edu	37	chr3	41266098	41266098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagcaacagtcttacctggActctggaatccattctggtg	10	11	3	0	rs121913396|rs121913416		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:41266098A>G	ENST00000349496.5	+	3	375	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											92	77	82					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>G	3.37:g.41266098A>G	ENSP00000344456:p.Asp32Gly		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.D32G	ENST00000349496.5	37	c.95	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308122	0.81247	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74137	-0.3762	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	G	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25G;ENSP00000385604:D32G;ENSP00000412219:D32G;ENSP00000379486:D32G;ENSP00000344456:D32G;ENSP00000411226:D25G;ENSP00000379488:D32G;ENSP00000409302:D32G;ENSP00000401599:D32G	ENSP00000344456:D32G	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC	CTNNB1	-	NULL		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	A	NM_001098210		41266098	1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41266098	A	G	41266098	3	3	131	1	0	0	0	0	1	0	0	0	4021	275	10	5	101	5	CTNNB1	3	41266098	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	809774	41266098	156756332	392	20532										
C3orf23	285343	genome.wustl.edu	37	chr3	44441979	44441979	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agccagtattgacacttgaaGaatattactctcttcttgat	6	8	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44441979G>A	ENST00000342649.4	+	9	1445	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TCAIM_ENST00000417237.1_Missense_Mutation_p.E340K	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	340						mitochondrion (GO:0005739)											GACACTTGAAGAATATTACTC	0.338																																																	0													101	102	102					3																	44441979		2203	4296	6499	SO:0001583	missense	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1018G>A	3.37:g.44441979G>A	ENSP00000341539:p.Glu340Lys		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.E340K	ENST00000342649.4	37	c.1018	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516006	0.85495	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.48522	0.81;0.81	5.74	4.86	0.63082	.	0.047367	0.85682	D	0.000000	T	0.53077	0.1774	L	0.55103	1.725	0.46678	D	0.999157	P	0.47841	0.901	P	0.47645	0.553	T	0.57335	-0.7829	10	0.56958	D	0.05	.	17.0457	0.86501	0.0:0.1268:0.8732:0.0	.	340	Q8N3R3	CC023_HUMAN	K	340	ENSP00000402581:E340K;ENSP00000341539:E340K	ENSP00000341539:E340K	E	+	1	0	C3orf23	44416983	1.000000	0.71417	0.558000	0.28319	0.998000	0.95712	6.089000	0.71384	1.398000	0.46701	0.563000	0.77884	GAA	TCAIM	-	NULL		0.338	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	G	NM_173826		44441979	1	no_errors	ENST00000342649	ensembl	human	known	70_37	missense	SNP	0.999	A	A	44441979	G	A	44441979	3	1	131	1	0	0	0	0	1	0	0	0	2221	943	33	1	1100	1	C3orf23	3	44441979	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3175881	44441979	153580451	393	20533										
ZNF502	91392	genome.wustl.edu	37	chr3	44762970	44762970	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcagtgtgggaaaacatttCgatgtcgatcatttcttact	9	7	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44762970C>T	ENST00000296091.4	+	4	917	c.661C>T	c.(661-663)Cga>Tga	p.R221*	ZNF502_ENST00000449836.1_Nonsense_Mutation_p.R221*|ZNF502_ENST00000436624.2_Nonsense_Mutation_p.R221*	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	221					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.R221*(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAACATTTCGATGTCGATC	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)											160	166	164					3																	44762970		2203	4300	6503	SO:0001587	stop_gained	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.661C>T	3.37:g.44762970C>T	ENSP00000296091:p.Arg221*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R221*	ENST00000296091.4	37	c.661	CCDS2719.1	3	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540358	0.65085	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	.	.	.	4.7	-0.894	0.10563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-2.004	6.2691	0.20945	0.6231:0.2127:0.0:0.1641	.	.	.	.	X	221	.	ENSP00000296091:R221X	R	+	1	2	ZNF502	44737974	0.000000	0.05858	0.042000	0.18584	0.995000	0.86356	-0.616000	0.05591	0.007000	0.14760	-0.182000	0.12963	CGA	ZNF502	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	C	NM_033210		44762970	1	no_errors	ENST00000296091	ensembl	human	known	70_37	nonsense	SNP	0.002	T	T	44762970	C	T	44762970	4	4	131	1	0	0	0	0	0	1	0	0	17980	876	31	1	667	1	ZNF502	3	44762970	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	320991	44762970	153259460	394	20534										
ZNF502	91392	genome.wustl.edu	37	chr3	44763337	44763338	+	Missense_Mutation	DNP	GA	GA	TC													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaacctctctcagcatcagaGaattcatagtggagagaaac							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44763337_44763338GA>TC	ENST00000296091.4	+	4	1284_1285	c.1028_1029GA>TC	c.(1027-1029)aGA>aTC	p.R343I	ZNF502_ENST00000449836.1_Missense_Mutation_p.R343I|ZNF502_ENST00000436624.2_Missense_Mutation_p.R343I	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAGCATCAGAGAATTCATAGTG	0.406																																																	0																																										SO:0001583	missense	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	Exception_encountered	3.37:g.44763337_44763338delinsTC	ENSP00000296091:p.Arg343Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R343I|p.R343S	ENST00000296091.4	37	c.1028|c.1029	CCDS2719.1	3																																																																																			ZNF502	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.406	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	G|A	NM_033210		44763337|44763338	1	no_errors	ENST00000296091	ensembl	human	known	70_37	missense	SNP	1.000	T|C	TC	44763338	GA	TC	44763337	3	4	131	1	0	0	0	0	1	0	0	0	17980	942	33	3	1034	3	ZNF502	3	44763337	Missense_Mutation	DNP	GA	TCGA-FU-A3HZ-01A-11D-A20U-09	367	44763337	153259093	395	20535										
TGM4	7047	genome.wustl.edu	37	chr3	44952543	44952543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatcagaggtttcatcattgCggaaattgtggagtctaagg	12	5	4	1	rs201751613		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44952543C>T	ENST00000296125.4	+	12	1768	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	567					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCATCATTGCGGAAATTGTG	0.453																																																	0													137	126	129					3																	44952543		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1700C>T	3.37:g.44952543C>T	ENSP00000296125:p.Ala567Val		Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A567V	ENST00000296125.4	37	c.1700	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794268	0.50102	.	.	ENSG00000163810	ENST00000296125	T	0.78595	-1.19	2.88	0.898	0.19264	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.143965	0.29987	U	0.010690	T	0.50701	0.1631	N	0.08118	0	0.09310	N	1	P	0.50443	0.935	B	0.37508	0.252	T	0.53287	-0.8460	10	0.66056	D	0.02	.	6.252	0.20852	0.0:0.7035:0.1871:0.1094	.	567	P49221	TGM4_HUMAN	V	567	ENSP00000296125:A567V	ENSP00000296125:A567V	A	+	2	0	TGM4	44927547	0.547000	0.26465	0.000000	0.03702	0.015000	0.08874	0.853000	0.27777	0.036000	0.15547	0.563000	0.77884	GCG	TGM4	-	superfamily_Transglutaminase_C		0.453	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	C	NM_003241		44952543	1	no_errors	ENST00000296125	ensembl	human	known	70_37	missense	SNP	0.023	T	T	44952543	C	T	44952543	3	4	131	1	0	0	0	0	1	0	0	0	15862	768	27	2	1746	2	TGM4	3	44952543	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	189206	44952543	153069887	396	20536										
CDCP1	64866	genome.wustl.edu	37	chr3	45134979	45134979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctggtgttgcagggcttctCgtgtgtatgctgctgcagct	15	9	1	0	rs370335828		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:45134979C>T	ENST00000296129.1	-	6	1551	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	473	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGGGCTTCTCGTGTGTATGC	0.612																																																	0								C	LYS/GLU	0,4406		0,0,2203	93	80	85		1417	5.6	0.3	3		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCP1	NM_022842.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	473/837	45134979	1,13005	2203	4300	6503	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1417G>A	3.37:g.45134979C>T	ENSP00000296129:p.Glu473Lys		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_CUB	p.E473K	ENST00000296129.1	37	c.1417	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564108	0.45694	0.0	1.16E-4	ENSG00000163814	ENST00000296129	T	0.26810	1.71	5.57	5.57	0.84162	.	0.151262	0.64402	D	0.000015	T	0.32645	0.0836	M	0.67953	2.075	0.80722	D	1	D	0.59767	0.986	P	0.45099	0.469	T	0.07868	-1.0750	10	0.45353	T	0.12	.	14.2398	0.65950	0.0:0.8514:0.1486:0.0	.	473	Q9H5V8	CDCP1_HUMAN	K	473	ENSP00000296129:E473K	ENSP00000296129:E473K	E	-	1	0	CDCP1	45109983	0.971000	0.33674	0.334000	0.25495	0.108000	0.19459	3.436000	0.52856	2.626000	0.88956	0.462000	0.41574	GAG	CDCP1	-	NULL		0.612	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	C	NM_022842		45134979	-1	no_errors	ENST00000296129	ensembl	human	known	70_37	missense	SNP	0.844	T	T	45134979	C	T	45134979	3	4	131	1	0	0	0	0	1	0	0	0	3098	893	31	1	1109	1	CDCP1	3	45134979	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	182436	45134979	152887451	397	20537										
ALS2CL	259173	genome.wustl.edu	37	chr3	46716116	46716116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaggctcaagttggcaatgCcctggctgtagaagctgtcc	13	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:46716116C>A	ENST00000318962.4	-	21	2452	c.2369G>T	c.(2368-2370)gGc>gTc	p.G790V	ALS2CL_ENST00000415953.1_Missense_Mutation_p.G790V|ALS2CL_ENST00000383742.3_Missense_Mutation_p.G137V	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	790					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTTGGCAATGCCCTGGCTGTA	0.567																																																	0													169	151	157					3																	46716116		2203	4300	6503	SO:0001583	missense	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2369G>T	3.37:g.46716116C>A	ENSP00000313670:p.Gly790Val		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.G790V	ENST00000318962.4	37	c.2369	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922877	0.73213	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.28454	1.61;1.61;1.61	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000003	T	0.53012	0.1770	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46442	-0.9191	10	0.52906	T	0.07	.	17.0466	0.86505	0.0:1.0:0.0:0.0	.	790	Q60I27	AL2CL_HUMAN	V	790;790;137	ENSP00000313670:G790V;ENSP00000413223:G790V;ENSP00000373248:G137V	ENSP00000313670:G790V	G	-	2	0	ALS2CL	46691120	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.396000	0.73234	2.894000	0.99253	0.655000	0.94253	GGC	ALS2CL	-	NULL		0.567	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	C	NM_147129		46716116	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46716116	C	A	46716116	3	1	131	1	0	0	0	0	1	0	0	0	551	739	26	4	516	4	ALS2CL	3	46716116	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1581137	46716116	151306314	398	20538										
NBEAL2	23218	genome.wustl.edu	37	chr3	47047475	47047475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacacctacacgagtggatcGacctcatctttggctacaag	8	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:47047475G>A	ENST00000450053.3	+	43	7020	c.6841G>A	c.(6841-6843)Gac>Aac	p.D2281N	NBEAL2_ENST00000383740.2_Missense_Mutation_p.D560N|NBEAL2_ENST00000292309.5_Missense_Mutation_p.D2097N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2281	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGAGTGGATCGACCTCATCTT	0.582																																																	0													70	83	78					3																	47047475		2135	4249	6384	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6841G>A	3.37:g.47047475G>A	ENSP00000415034:p.Asp2281Asn		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2281N	ENST00000450053.3	37	c.6841	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.191800|5.191800	0.94923|0.94923	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550;ENST00000423436|ENST00000443829	D;D;D;D|.	0.90385|.	-2.66;-2.66;-2.66;-2.66|.	4.78|4.78	4.78|4.78	0.61160|0.61160	BEACH domain (4);|.	0.053760|.	0.64402|.	D|.	0.000001|.	D|D	0.86234|0.86234	0.5884|0.5884	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|D	0.89970|0.89970	0.4093|0.4093	10|5	0.87932|.	D|.	0|.	.|.	16.5572|16.5572	0.84488|0.84488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2097;2281|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	N|Q	2097;560;2281;224;108|649	ENSP00000292309:D2097N;ENSP00000373246:D560N;ENSP00000415034:D2281N;ENSP00000415063:D108N|.	ENSP00000292309:D2097N|.	D|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47022479|47022479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.743000|7.743000	0.85020|0.85020	2.487000|2.487000	0.83934|0.83934	0.561000|0.561000	0.74099|0.74099	GAC|CGA	NBEAL2	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.582	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47047475	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47047475	G	A	47047475	3	1	131	1	0	0	0	0	1	0	0	0	10212	1058	37	1	7011	1	NBEAL2	3	47047475	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	331359	47047475	150974955	399	20539										
BSN	8927	genome.wustl.edu	37	chr3	49694005	49694005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggccagaagccaccagcagAtgctgctcctgggggtggca	15	12	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:49694005A>G	ENST00000296452.4	+	5	7130	c.7016A>G	c.(7015-7017)gAt>gGt	p.D2339G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2339					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCAGCAGATGCTGCTCCT	0.652																																																	0													9	10	10					3																	49694005		2183	4280	6463	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7016A>G	3.37:g.49694005A>G	ENSP00000296452:p.Asp2339Gly		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.D2339G	ENST00000296452.4	37	c.7016	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	A	3.462	-0.109771	0.06924	.	.	ENSG00000164061	ENST00000296452	T	0.17691	2.26	6.06	6.06	0.98353	.	0.960694	0.08730	N	0.902209	T	0.11580	0.0282	N	0.14661	0.345	0.27734	N	0.944714	B	0.02656	0.0	B	0.04013	0.001	T	0.13683	-1.0500	10	0.36615	T	0.2	-2.6094	8.0989	0.30846	0.7272:0.2034:0.0694:0.0	.	2339	Q9UPA5	BSN_HUMAN	G	2339	ENSP00000296452:D2339G	ENSP00000296452:D2339G	D	+	2	0	BSN	49669009	0.135000	0.22499	0.866000	0.34008	0.595000	0.36748	1.619000	0.36965	2.324000	0.78689	0.533000	0.62120	GAT	BSN	-	NULL		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	A	NM_003458		49694005	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.610	G	G	49694005	A	G	49694005	3	3	131	1	0	0	0	0	1	0	0	0	1533	333	12	5	7034	5	BSN	3	49694005	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2646530	49694005	148328425	400	20540										
GNAT1	2779	genome.wustl.edu	37	chr3	50232331	50232331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagaacgtcaaatttgtcttCgacgctgtcaccgacatcat	7	12	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:50232331C>T	ENST00000433068.1	+	8	1052	c.996C>T	c.(994-996)ttC>ttT	p.F332F	GNAT1_ENST00000232461.3_Silent_p.F332F	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	332					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AATTTGTCTTCGACGCTGTCA	0.552											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96	78	84					3																	50232331		2203	4300	6503	SO:0001819	synonymous_variant	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.996C>T	3.37:g.50232331C>T		968	Q4VBN2	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.F332	ENST00000433068.1	37	c.996	CCDS2812.1	3																																																																																			GNAT1	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.552	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	HGNC	protein_coding	OTTHUMT00000345957.1	C	NM_000172		50232331	1	no_errors	ENST00000232461	ensembl	human	known	70_37	silent	SNP	0.999	T	T	50232331	C	T	50232331	2	4	131	1	0	0	0	0	0	0	0	1	6530	883	31	1		1	GNAT1	3	50232331	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	538326	50232331	147790099	401	20541										
DOCK3	1795	genome.wustl.edu	37	chr3	51251661	51251661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacaagaaaattgggatttcCtgatgtcattatgccaggta	9	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:51251661C>A	ENST00000266037.9	+	14	1258	c.1235C>A	c.(1234-1236)cCt>cAt	p.P412H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	412					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGGGATTTCCTGATGTCATT	0.463																																																	0													64	63	63					3																	51251661		1894	4118	6012	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1235C>A	3.37:g.51251661C>A	ENSP00000266037:p.Pro412His		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P412H	ENST00000266037.9	37	c.1235	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474982	0.84640	.	.	ENSG00000088538	ENST00000266037	T	0.08193	3.12	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	M	0.87269	2.87	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.24261	-1.0165	10	0.66056	D	0.02	.	19.4352	0.94788	0.0:1.0:0.0:0.0	.	412	Q8IZD9	DOCK3_HUMAN	H	412	ENSP00000266037:P412H	ENSP00000266037:P412H	P	+	2	0	DOCK3	51226701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	2.668000	0.90789	0.655000	0.94253	CCT	DOCK3	-	NULL		0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	C	NM_004947		51251661	1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51251661	C	A	51251661	3	1	131	1	0	0	0	0	1	0	0	0	4698	681	24	4	1289	4	DOCK3	3	51251661	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1019330	51251661	146770769	402	20542										
RAD54L2	23132	genome.wustl.edu	37	chr3	51661692	51661692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcagagcagcttaggcgccAccaaggcaagaacctagcct	10	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:51661692A>G	ENST00000409535.2	+	3	388	c.263A>G	c.(262-264)cAc>cGc	p.H88R	RAD54L2_ENST00000296477.3_5'Flank	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	88						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTAGGCGCCACCAAGGCAAG	0.562																																																	0													64	64	64					3																	51661692		692	1591	2283	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.263A>G	3.37:g.51661692A>G	ENSP00000386520:p.His88Arg		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H88R	ENST00000409535.2	37	c.263	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	A	8.448	0.852364	0.17106	.	.	ENSG00000164080	ENST00000409535	T	0.21031	2.03	5.69	1.76	0.24704	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.80722	D	1	B	0.26400	0.148	B	0.17098	0.017	T	0.22695	-1.0209	9	0.15952	T	0.53	-6.0962	12.3667	0.55232	0.5004:0.4996:0.0:0.0	.	88	Q9Y4B4	ARIP4_HUMAN	R	88	ENSP00000386520:H88R	ENSP00000386520:H88R	H	+	2	0	RAD54L2	51636732	1.000000	0.71417	0.890000	0.34922	0.269000	0.26545	1.123000	0.31308	0.038000	0.15604	0.533000	0.62120	CAC	RAD54L2	-	NULL		0.562	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	A	NM_015106		51661692	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	0.949	G	G	51661692	A	G	51661692	3	3	131	1	0	0	0	0	1	0	0	0	13024	159	6	5	269	5	RAD54L2	3	51661692	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	410031	51661692	146360738	403	20543										
SEMA3G	56920	genome.wustl.edu	37	chr3	52475372	52475372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagaagaagtacaccttgtCattgtcctggtcagagttct	10	8	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:52475372C>A	ENST00000231721.2	-	7	720	c.721G>T	c.(721-723)Gac>Tac	p.D241Y		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	241	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACACCTTGTCATTGTCCTGG	0.632																																																	0													85	61	69					3																	52475372		2203	4300	6503	SO:0001583	missense	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.721G>T	3.37:g.52475372C>A	ENSP00000231721:p.Asp241Tyr		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.D241Y	ENST00000231721.2	37	c.721	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845894	0.91277	.	.	ENSG00000010319	ENST00000231721	T	0.28454	1.61	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74426	-0.3669	10	0.87932	D	0	.	16.4876	0.84189	0.0:1.0:0.0:0.0	.	241	Q9NS98	SEM3G_HUMAN	Y	241	ENSP00000231721:D241Y	ENSP00000231721:D241Y	D	-	1	0	SEMA3G	52450412	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.734000	0.62043	2.390000	0.81377	0.561000	0.74099	GAC	SEMA3G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.632	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	C	NM_020163		52475372	-1	no_errors	ENST00000231721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52475372	C	A	52475372	3	1	131	1	0	0	0	0	1	0	0	0	14060	826	29	3	1667	3	SEMA3G	3	52475372	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	813680	52475372	145547058	404	20544										
ITIH3	3699	genome.wustl.edu	37	chr3	52835148	52835148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatgaggactctgatgccGatttgcagttgcaggtatgc	12	7	1	2	rs368953071	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:52835148G>A	ENST00000449956.2	+	11	1375	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	ITIH3_ENST00000416872.2_Missense_Mutation_p.D457N	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	457	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCTGATGCCGATTTGCAGTT	0.488													G|||	2	0.000399361	0	0	5008	,	,		20190	0		0	False		,,,				2504	0.002																0								G	ASN/ASP	1,3945		0,1,1972	51	52	52		1369	-5.1	0	3		52	0,8290		0,0,4145	no	missense	ITIH3	NM_002217.3	23	0,1,6117	AA,AG,GG		0.0,0.0253,0.0082	benign	457/891	52835148	1,12235	1973	4145	6118	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1369G>A	3.37:g.52835148G>A	ENSP00000415769:p.Asp457Asn		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D457N	ENST00000449956.2	37	c.1369	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096959	0.20552	2.53E-4	0.0	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.79141	-1.24;-1.24	5.33	-5.12	0.02893	von Willebrand factor, type A (2);	0.594872	0.18551	N	0.137910	T	0.50188	0.1601	N	0.04297	-0.235	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.001;0.002	T	0.28364	-1.0046	10	0.33940	T	0.23	-10.7786	11.4355	0.50066	0.244:0.1212:0.6348:0.0	.	457;457	E7ET33;Q06033	.;ITIH3_HUMAN	N	457;445;452;457;457	ENSP00000413922:D457N;ENSP00000415769:D457N	ENSP00000273291:D452N	D	+	1	0	ITIH3	52810188	0.009000	0.17119	0.003000	0.11579	0.479000	0.33129	1.226000	0.32563	-1.147000	0.02851	-0.136000	0.14681	GAT	ITIH3	-	smart_VWF_A,pfscan_VWF_A		0.488	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	G	NM_002217		52835148	1	no_errors	ENST00000449956	ensembl	human	known	70_37	missense	SNP	0.003	A	A	52835148	G	A	52835148	3	1	131	1	0	0	0	0	1	0	0	0	7925	1058	37	1	1411	1	ITIH3	3	52835148	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	359776	52835148	145187282	405	20545										
ITIH4	3700	genome.wustl.edu	37	chr3	52860028	52860028	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttggcttgaaccggatgtgAgcctggaggaataatccggg	16	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:52860028A>C	ENST00000266041.4	-	6	729	c.633T>G	c.(631-633)gcT>gcG	p.A211A	ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Silent_p.A211A|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Silent_p.A211A|ITIH4_ENST00000434759.3_Silent_p.A123A|ITIH4_ENST00000485816.1_Silent_p.A211A|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	211					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCGGATGTGAGCCTGGAGGA	0.522																																																	0													113	95	101					3																	52860028		2203	4300	6503	SO:0001819	synonymous_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.633T>G	3.37:g.52860028A>C			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A211	ENST00000266041.4	37	c.633	CCDS2865.1	3																																																																																			ITIH4	-	NULL		0.522	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	A	NM_002218		52860028	-1	no_errors	ENST00000266041	ensembl	human	known	70_37	silent	SNP	0.998	C	C	52860028	A	C	52860028	2	2	131	1	0	0	0	0	0	0	0	1	7926	291	11	5		5	ITIH4	3	52860028	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	24880	52860028	145162402	406	20546										
PRKCD	5580	genome.wustl.edu	37	chr3	53213604	53213604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgttgcagagcgtgggaaaAcactggtgcagaagaagccg	15	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:53213604A>C	ENST00000394729.2	+	3	455	c.127A>C	c.(127-129)Aca>Cca	p.T43P	PRKCD_ENST00000330452.3_Missense_Mutation_p.T43P	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	43	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GCGTGGGAAAACACTGGTGCA	0.592																																																	0													77	68	71					3																	53213604		2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.127A>C	3.37:g.53213604A>C	ENSP00000378217:p.Thr43Pro		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T43P	ENST00000394729.2	37	c.127	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431302	0.83776	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.84589	-0.53;-0.53;-1.87	4.83	4.83	0.62350	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.78223	2.4	0.80722	D	1	D;D	0.65815	0.995;0.988	D;P	0.79108	0.992;0.625	D	0.92594	0.6085	10	0.72032	D	0.01	.	13.5277	0.61605	1.0:0.0:0.0:0.0	.	43;43	C9K0E3;Q05655	.;KPCD_HUMAN	P	43	ENSP00000378217:T43P;ENSP00000331602:T43P;ENSP00000419629:T43P	ENSP00000331602:T43P	T	+	1	0	PRKCD	53188644	1.000000	0.71417	0.995000	0.50966	0.686000	0.39977	9.139000	0.94554	2.030000	0.59900	0.459000	0.35465	ACA	PRKCD	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta		0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	A			53213604	1	no_errors	ENST00000330452	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53213604	A	C	53213604	3	2	131	1	0	0	0	0	1	0	0	0	12536	43	2	5	133	5	PRKCD	3	53213604	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	353576	53213604	144808826	407	20547										
CACNA1D	776	genome.wustl.edu	37	chr3	53835295	53835295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attccataggaaagcaagttCccacctcaacaaatgccaat	5	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:53835295C>T	ENST00000350061.5	+	42	5762	c.5251C>T	c.(5251-5253)Ccc>Tcc	p.P1751S	CACNA1D_ENST00000544977.1_Missense_Mutation_p.P130S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1736S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1771S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1751					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAGCAAGTTCCCACCTCAAC	0.453																																																	0													91	78	83					3																	53835295		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5251C>T	3.37:g.53835295C>T	ENSP00000288133:p.Pro1751Ser		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.P1771S	ENST00000350061.5	37	c.5311	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553651	0.27739	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.95821	-3.78;-3.82;-3.78;-3.81	4.3	4.3	0.51218	.	3.311960	0.01340	N	0.011557	D	0.90655	0.7069	N	0.13098	0.295	0.44508	D	0.997457	B;B;B;B	0.30406	0.278;0.021;0.0;0.005	B;B;B;B	0.24974	0.057;0.04;0.001;0.012	T	0.72701	-0.4214	10	0.21540	T	0.41	.	11.2529	0.49037	0.0:0.9132:0.0:0.0868	.	1736;1444;1751;1771	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	1751;1771;1736;1444;130	ENSP00000288133:P1751S;ENSP00000288139:P1771S;ENSP00000409174:P1736S;ENSP00000418014:P1444S	ENSP00000288139:P1771S	P	+	1	0	CACNA1D	53810335	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.781000	0.47750	2.334000	0.79466	0.462000	0.41574	CCC	CACNA1D	-	NULL		0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	C	NM_000720		53835295	1	no_errors	ENST00000288139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53835295	C	T	53835295	3	4	131	1	0	0	0	0	1	0	0	0	2546	855	30	1	5589	1	CACNA1D	3	53835295	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	621691	53835295	144187135	408	20548										
IL17RD	54756	genome.wustl.edu	37	chr3	57135379	57135379	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctctcttcatctaaatgtGaatatatattttctaaattg	4	6	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:57135379G>T	ENST00000296318.7	-	11	1080	c.992C>A	c.(991-993)tCa>tAa	p.S331*	IL17RD_ENST00000320057.5_Nonsense_Mutation_p.S187*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.S187*|IL17RD_ENST00000427856.2_Nonsense_Mutation_p.S307*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	331					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ATCTAAATGTGAATATATATT	0.423																																																	0													29	32	31					3																	57135379		2203	4300	6503	SO:0001587	stop_gained	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.992C>A	3.37:g.57135379G>T	ENSP00000296318:p.Ser331*		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Nonsense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.S331*	ENST00000296318.7	37	c.992	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	39	7.483719	0.98312	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	.	.	.	5.68	5.68	0.88126	.	0.199149	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4737	20.1819	0.98206	0.0:0.0:1.0:0.0	.	.	.	.	X	331;187;307;187	.	ENSP00000296318:S331X	S	-	2	0	IL17RD	57110419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.850000	0.98022	0.655000	0.94253	TCA	IL17RD	-	NULL		0.423	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	G	NM_017563		57135379	-1	no_errors	ENST00000296318	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	57135379	G	T	57135379	4	4	131	1	0	0	0	0	0	1	0	0	7662	1294	45	3	1239	3	IL17RD	3	57135379	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3300084	57135379	140887051	409	20549										
PTPRG	5793	genome.wustl.edu	37	chr3	62153697	62153697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagcaagaccatgtcaagtCggtggagtatctgagaaata	12	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:62153697C>T	ENST00000474889.1	+	8	1270	c.893C>T	c.(892-894)tCg>tTg	p.S298L	PTPRG_ENST00000295874.10_Missense_Mutation_p.S298L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	298	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATGTCAAGTCGGTGGAGTAT	0.507																																																	0													90	87	88					3																	62153697		2203	4300	6503	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.893C>T	3.37:g.62153697C>T	ENSP00000418112:p.Ser298Leu		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S298L	ENST00000474889.1	37	c.893	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474139	0.26423	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.67345	-0.26;-0.26	5.2	5.2	0.72013	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.059036	0.64402	D	0.000001	T	0.61540	0.2355	L	0.48218	1.51	0.80722	D	1	P;P	0.49862	0.912;0.929	B;P	0.45037	0.336;0.467	T	0.61019	-0.7147	10	0.02654	T	1	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	298;298	P23470-2;P23470	.;PTPRG_HUMAN	L	298	ENSP00000418112:S298L;ENSP00000295874:S298L	ENSP00000295874:S298L	S	+	2	0	PTPRG	62128737	1.000000	0.71417	0.961000	0.40146	0.945000	0.59286	7.409000	0.80053	2.582000	0.87167	0.655000	0.94253	TCG	PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.507	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	C	NM_002841		62153697	1	no_errors	ENST00000474889	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62153697	C	T	62153697	3	4	131	1	0	0	0	0	1	0	0	0	12832	893	31	1	923	1	PTPRG	3	62153697	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5018318	62153697	135868733	410	20550										
C3orf14	57415	genome.wustl.edu	37	chr3	62306187	62306187	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaaattcgcctttctaaaaGacatgaagaaatgtaagttt	7	5	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:62306187G>T	ENST00000494481.1	+	3	355	c.41G>T	c.(40-42)aGa>aTa	p.R14I	PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.R14I|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|C3orf14_ENST00000486169.1_3'UTR|C3orf14_ENST00000542214.1_Missense_Mutation_p.R14I|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R14I|PTPRG-AS1_ENST00000462497.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	14										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTTTCTAAAAGACATGAAGAA	0.299																																																	0													63	64	64					3																	62306187		2201	4295	6496	SO:0001583	missense	57415			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.41G>T	3.37:g.62306187G>T	ENSP00000418086:p.Arg14Ile		B2R9U0	Missense_Mutation	SNP	NULL	p.R14I	ENST00000494481.1	37	c.41	CCDS2896.1	3	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608902	0.66558	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000465142;ENST00000494481;ENST00000542214	.	.	.	5.35	3.49	0.39957	.	0.083886	0.51477	D	0.000093	T	0.62792	0.2457	M	0.62723	1.935	0.48901	D	0.999728	D	0.57257	0.979	P	0.53722	0.733	T	0.63871	-0.6539	9	0.46703	T	0.11	-18.8968	10.1722	0.42917	0.0759:0.138:0.7862:0.0	.	14	Q9HBI5	CC014_HUMAN	I	14	.	ENSP00000232519:R14I	R	+	2	0	C3orf14	62281227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.410000	0.44592	1.349000	0.45751	0.455000	0.32223	AGA	C3orf14	-	NULL		0.299	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf14	HGNC	protein_coding	OTTHUMT00000351807.1	G	NM_020685		62306187	1	no_errors	ENST00000232519	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62306187	G	T	62306187	3	4	131	1	0	0	0	0	1	0	0	0	2213	942	33	3	43	3	C3orf14	3	62306187	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	152490	62306187	135716243	411	20551										
CADPS	8618	genome.wustl.edu	37	chr3	62467447	62467447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggtgccgaaaaagtaggcaTttgtgggatgcctagaggga	16	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:62467447T>G	ENST00000383710.4	-	22	3473	c.3124A>C	c.(3124-3126)Atg>Ctg	p.M1042L	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1042	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAAGTAGGCATTTGTGGGATG	0.423																																																	0													221	210	213					3																	62467447		1911	4128	6039	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3124A>C	3.37:g.62467447T>G	ENSP00000373215:p.Met1042Leu		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M1042L	ENST00000383710.4	37	c.3124	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.784|6.784	0.513698|0.513698	0.12944|0.12944	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710	.|T	.|0.26660	.|1.72	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Munc13 homology 1 (1);	.|0.092218	.|0.64402	.|D	.|0.000001	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.27068	.|0.167	.|B	.|0.41332	.|0.354	T|T	0.14839|0.14839	-1.0458|-1.0458	5|10	.|0.16896	.|T	.|0.51	.|.	15.5084|15.5084	0.75760|0.75760	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1042	.|Q9ULU8	.|CAPS1_HUMAN	N|L	28|1042	.|ENSP00000373215:M1042L	.|ENSP00000373214:M1042L	K|M	-|-	3|1	2|0	CADPS|CADPS	62442487|62442487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.655000|7.655000	0.83696|0.83696	2.134000|2.134000	0.65973|0.65973	0.460000|0.460000	0.39030|0.39030	AAA|ATG	CADPS	-	NULL		0.423	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	T	NM_003716, NM_183393, NM_183394		62467447	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62467447	T	G	62467447	3	3	131	1	0	0	0	0	1	0	0	0	2575	1493	52	5	973	5	CADPS	3	62467447	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	161260	62467447	135554983	412	20552										
ADAMTS9	56999	genome.wustl.edu	37	chr3	64644459	64644459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttgtctttactgtgcctatTtttgtgttctgtaacaaatc	6	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:64644459T>G	ENST00000498707.1	-	4	1030	c.688A>C	c.(688-690)Aat>Cat	p.N230H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.N230H|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.N230H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	230					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCCTATTTTTGTGTTCT	0.363																																																	0													150	143	145					3																	64644459		2202	4300	6502	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.688A>C	3.37:g.64644459T>G	ENSP00000418735:p.Asn230His		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N230H	ENST00000498707.1	37	c.688	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	T	0.106	-1.145520	0.01714	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.61742	0.26;0.28;0.08	6.01	2.12	0.27331	.	0.614226	0.17317	N	0.178677	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17228	-1.0376	10	0.14656	T	0.56	.	7.7277	0.28769	0.0:0.1511:0.1572:0.6916	.	230;230;230;230	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	H	230	ENSP00000295903:N230H;ENSP00000418735:N230H;ENSP00000419217:N230H	ENSP00000295903:N230H	N	-	1	0	ADAMTS9	64619499	0.055000	0.20627	0.003000	0.11579	0.185000	0.23345	1.278000	0.33179	0.533000	0.28675	0.528000	0.53228	AAT	ADAMTS9	-	NULL		0.363	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	T			64644459	-1	no_errors	ENST00000498707	ensembl	human	known	70_37	missense	SNP	0.001	G	G	64644459	T	G	64644459	3	3	131	1	0	0	0	0	1	0	0	0	273	1841	64	5	5263	5	ADAMTS9	3	64644459	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2177012	64644459	133377971	413	20553										
SUCLG2	8801	genome.wustl.edu	37	chr3	67579602	67579602	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgggcttttaaaacaatttCttttgcatctgaaaaagaaa	6	6	2	2	rs201284259		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:67579602C>A	ENST00000307227.5	-	3	262	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	SUCLG2_ENST00000492795.1_Nonsense_Mutation_p.E79*|SUCLG2_ENST00000493112.1_Nonsense_Mutation_p.E79*	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	79	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AAAACAATTTCTTTTGCATCT	0.333													C|||	1	0.000199681	0	0	5008	,	,		18675	0		0	False		,,,				2504	0.001																0													89	82	84					3																	67579602		1802	4073	5875	SO:0001587	stop_gained	8801			AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.235G>T	3.37:g.67579602C>A	ENSP00000307432:p.Glu79*		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Nonsense_Mutation	SNP	pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	p.E79*	ENST00000307227.5	37	c.235	CCDS43104.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.914423	0.97932	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.3454	0.90319	0.0:1.0:0.0:0.0	.	.	.	.	X	79;79;31;79	.	ENSP00000307432:E79X	E	-	1	0	SUCLG2	67662292	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.737000	0.84957	2.323000	0.78572	0.460000	0.39030	GAA	SUCLG2	-	pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu		0.333	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG2	HGNC	protein_coding	OTTHUMT00000351993.1	C	NM_003848		67579602	-1	no_errors	ENST00000307227	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	67579602	C	A	67579602	4	1	131	1	0	0	0	0	0	1	0	0	15395	922	32	3	1243	3	SUCLG2	3	67579602	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2935143	67579602	130442828	414	20554										
FAM19A1	407738	genome.wustl.edu	37	chr3	68466528	68466528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtgttcctgtctacctggaAaagtggctggaacaacaaga	11	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:68466528A>G	ENST00000478136.1	+	3	707	c.217A>G	c.(217-219)Aaa>Gaa	p.K73E	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.K73E	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	73						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCTACCTGGAAAAGTGGCTGG	0.453																																																	0													144	145	144					3																	68466528		1924	4124	6048	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.217A>G	3.37:g.68466528A>G	ENSP00000418575:p.Lys73Glu		A8K0V3|Q8TCL8	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.K73E	ENST00000478136.1	37	c.217	CCDS54606.1	3	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875294	0.91664	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	N	0.14661	0.345	0.37935	D	0.932123	D	0.69078	0.997	D	0.77004	0.989	T	0.64927	-0.6292	9	0.87932	D	0	.	12.9419	0.58350	0.8644:0.1356:0.0:0.0	.	73	Q7Z5A9	F19A1_HUMAN	E	73	.	ENSP00000418575:K73E	K	+	1	0	FAM19A1	68549218	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	9.283000	0.95860	1.013000	0.39391	0.482000	0.46254	AAA	FAM19A1	-	pfam_Chemokine-like_FAM19A2		0.453	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A1	HGNC	protein_coding	OTTHUMT00000352004.1	A	NM_213609		68466528	1	no_errors	ENST00000478136	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68466528	A	G	68466528	3	3	131	1	0	0	0	0	1	0	0	0	5546	15	1	5	223	5	FAM19A1	3	68466528	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	886926	68466528	129555902	415	20555										
TMF1	7110	genome.wustl.edu	37	chr3	69093647	69093647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgcagaatacttactcttTcaggttatcaaaagcttctt	5	8	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:69093647T>G	ENST00000398559.2	-	3	1663	c.1447A>C	c.(1447-1449)Aaa>Caa	p.K483Q	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.K486Q|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	483					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ACTTACTCTTTCAGGTTATCA	0.303																																																	0													63	63	63					3																	69093647		1795	4056	5851	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1447A>C	3.37:g.69093647T>G	ENSP00000381567:p.Lys483Gln		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.K486Q	ENST00000398559.2	37	c.1456	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114345	0.77210	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	D;D	0.82619	-1.63;-1.63	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.76494	0.999;0.998	P;P	0.61397	0.888;0.776	D	0.87707	0.2564	10	0.32370	T	0.25	.	15.991	0.80206	0.0:0.0:0.0:1.0	.	486;483	P82094-2;P82094	.;TMF1_HUMAN	Q	483;486;399;483	ENSP00000381567:K483Q;ENSP00000438706:K486Q	ENSP00000348582:K399Q	K	-	1	0	TMF1	69176337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.667000	0.68067	2.187000	0.69744	0.482000	0.46254	AAA	TMF1	-	NULL		0.303	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	T	NM_007114		69093647	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69093647	T	G	69093647	3	3	131	1	0	0	0	0	1	0	0	0	16258	1792	62	5	1894	5	TMF1	3	69093647	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	627119	69093647	128928783	416	20556										
EPHA6	285220	genome.wustl.edu	37	chr3	97202827	97202827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatccagatacatatgaagaCccatccctagcagtccatga	7	12	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:97202827C>T	ENST00000514100.1	+	7	542	c.300C>T	c.(298-300)gaC>gaT	p.D100D	EPHA6_ENST00000389672.5_Silent_p.D708D|EPHA6_ENST00000502694.1_Silent_p.D100D|EPHA6_ENST00000442602.2_Silent_p.D74D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	614	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATATGAAGACCCATCCCTAG	0.398																																																	0													106	109	108					3																	97202827		1895	4112	6007	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.300C>T	3.37:g.97202827C>T			D6RAL5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D708	ENST00000514100.1	37	c.2124		3																																																																																			EPHA6	-	superfamily_Kinase-like_dom		0.398	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	C	NM_001080448		97202827	1	no_errors	ENST00000389672	ensembl	human	known	70_37	silent	SNP	1.000	T	T	97202827	C	T	97202827	2	4	131	1	0	0	0	0	0	0	0	1	5183	506	18	4		4	EPHA6	3	97202827	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	28109180	97202827	100819603	417	20557										
CRYBG3	131544	genome.wustl.edu	37	chr3	97596184	97596184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagagtagaactgaccttgTccatcactttgaaaaaggta	9	7	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:97596184T>C	ENST00000182096.4	+	1	366	c.302T>C	c.(301-303)gTc>gCc	p.V101A		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2049							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ACTGACCTTGTCCATCACTTT	0.408																																																	0													62	61	62					3																	97596184		1929	4130	6059	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.302T>C	3.37:g.97596184T>C	ENSP00000182096:p.Val101Ala		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V101A	ENST00000182096.4	37	c.302		3	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261919	0.39995	.	.	ENSG00000080200	ENST00000182096	T	0.75477	-0.94	5.84	4.62	0.57501	.	0.564438	0.16477	N	0.212727	T	0.59810	0.2221	L	0.27053	0.805	0.46298	D	0.998975	B	0.20887	0.049	B	0.19148	0.024	T	0.60677	-0.7216	10	0.72032	D	0.01	.	6.7145	0.23296	0.1361:0.0736:0.0:0.7903	.	101	Q68DQ2	CRBG3_HUMAN	A	101	ENSP00000182096:V101A	ENSP00000182096:V101A	V	+	2	0	CRYBG3	99078874	0.001000	0.12720	0.962000	0.40283	0.993000	0.82548	0.736000	0.26130	2.242000	0.73789	0.528000	0.53228	GTC	CRYBG3	-	NULL		0.408	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	T	NM_153605		97596184	1	no_errors	ENST00000182096	ensembl	human	known	70_37	missense	SNP	0.697	C	C	97596184	T	C	97596184	3	2	131	1	0	0	0	0	1	0	0	0	3918	1667	58	5	304	5	CRYBG3	3	97596184	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	393357	97596184	100426246	418	20558										
FILIP1L	11259	genome.wustl.edu	37	chr3	99567248	99567248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgttaattaagccttgagttCggttatcctgcagtggtgct	11	8	0	1	rs377075355		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:99567248C>T	ENST00000354552.3	-	5	3742	c.3272G>A	c.(3271-3273)cGa>cAa	p.R1091Q	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R851Q|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R851Q|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R667Q|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R1091Q	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1091						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCCTTGAGTTCGGTTATCCTG	0.463																																																	0								C	GLN/ARG,GLN/ARG,,GLN/ARG	0,4058		0,0,2029	281	282	282		3272,2552,,3272	5.8	1	3		282	2,8372		0,2,4185	no	missense,missense,intron,missense	FILIP1L,C3orf26	NM_001042459.1,NM_014890.2,NM_032359.3,NM_182909.2	43,43,,43	0,2,6214	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging,possibly-damaging,,possibly-damaging	1091/1134,851/894,,1091/1136	99567248	2,12430	2029	4187	6216	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3272G>A	3.37:g.99567248C>T	ENSP00000346560:p.Arg1091Gln		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.R1091Q	ENST00000354552.3	37	c.3272	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357367	0.61293	0.0	2.39E-4	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620	T;T;T;T;T	0.23950	2.2;1.88;1.88;2.2;1.88	5.79	5.79	0.91817	.	0.000000	0.43110	D	0.000602	T	0.33089	0.0851	N	0.08118	0	0.50467	D	0.999877	D;D	0.89917	1.0;1.0	P;D	0.79108	0.883;0.992	T	0.31916	-0.9926	10	0.30854	T	0.27	-12.9685	20.0313	0.97540	0.0:1.0:0.0:0.0	.	1091;1091	Q4L180-2;Q4L180	.;FIL1L_HUMAN	Q	70;1091;667;851;1091;851;837	ENSP00000346560:R1091Q;ENSP00000417774:R667Q;ENSP00000419642:R851Q;ENSP00000327880:R1091Q;ENSP00000373192:R851Q	ENSP00000327880:R1091Q	R	-	2	0	FILIP1L	101049938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.865000	0.62998	2.746000	0.94184	0.655000	0.94253	CGA	FILIP1L	-	NULL		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	C	NM_014890		99567248	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99567248	C	T	99567248	3	4	131	1	0	0	0	0	1	0	0	0	5913	884	31	1	164	1	FILIP1L	3	99567248	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1971064	99567248	98455182	419	20559										
ABI3BP	25890	genome.wustl.edu	37	chr3	100511564	100511564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctttgctagttcagttgttCgtggaatcttagttgtgaaa	10	5	3	1	rs373865185		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:100511564C>T	ENST00000284322.5	-	23	2046	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R600Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1323Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	646	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCAGTTGTTCGTGGAATCTT	0.343																																																	0								C	GLN/ARG	0,3680		0,0,1840	253	239	243		1937	0.1	1	3		243	1,8167		0,1,4083	no	missense	ABI3BP	NM_015429.3	43	0,1,5923	TT,TC,CC		0.0122,0.0,0.0084	benign	646/1076	100511564	1,11847	1840	4084	5924	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1937G>A	3.37:g.100511564C>T	ENSP00000284322:p.Arg646Gln		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R646Q	ENST00000284322.5	37	c.1937	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.61|10.61	1.397748|1.397748	0.25205|0.25205	0.0|0.0	1.22E-4|1.22E-4	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|T;T;T	.|0.55234	.|2.18;0.53;1.73	5.94|5.94	0.062|0.062	0.14343|0.14343	.|.	.|1.772070	.|0.02614	.|N	.|0.102506	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.50333|0.50333	1.59|1.59	0.25032|0.25032	N|N	0.991263|0.991263	.|B;B;P;B	.|0.41313	.|0.174;0.057;0.745;0.209	.|B;B;B;B	.|0.22753	.|0.007;0.007;0.041;0.019	T|T	0.18178|0.18178	-1.0345|-1.0345	5|10	.|0.18276	.|T	.|0.48	0.3421|0.3421	1.5577|1.5577	0.02588|0.02588	0.1353:0.433:0.1312:0.3005|0.1353:0.433:0.1312:0.3005	.|.	.|600;646;1323;330	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	K|Q	702;226|1323;646;330;32;600	.|ENSP00000420524:R1323Q;ENSP00000284322:R646Q;ENSP00000373189:R600Q	.|ENSP00000284322:R646Q	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101994254|101994254	0.660000|0.660000	0.27420|0.27420	0.951000|0.951000	0.38953|0.38953	0.073000|0.073000	0.16967|0.16967	-0.336000|-0.336000	0.07863|0.07863	-0.281000|-0.281000	0.09141|0.09141	-0.350000|-0.350000	0.07774|0.07774	GAA|CGA	ABI3BP	-	NULL		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	C			100511564	-1	no_errors	ENST00000284322	ensembl	human	known	70_37	missense	SNP	0.973	T	T	100511564	C	T	100511564	3	4	131	1	0	0	0	0	1	0	0	0	91	884	31	1	1342	1	ABI3BP	3	100511564	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	944316	100511564	97510866	420	20560										
ABI3BP	25890	genome.wustl.edu	37	chr3	100605128	100605128	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagatttgaaaaatccacttCttttctttatccttttctcg	3	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:100605128C>A	ENST00000284322.5	-	5	631	c.522G>T	c.(520-522)aaG>aaT	p.K174N	ABI3BP_ENST00000471714.1_Missense_Mutation_p.K174N|ABI3BP_ENST00000495063.1_Missense_Mutation_p.K174N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	174	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAATCCACTTCTTTTCTTTAT	0.338																																																	0													84	71	75					3																	100605128		1801	4068	5869	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.522G>T	3.37:g.100605128C>A	ENSP00000284322:p.Lys174Asn		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K174N	ENST00000284322.5	37	c.522	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422644	0.62733	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T;T;T	0.57273	1.1;1.1;1.1;0.41;2.5	5.71	2.95	0.34219	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.131205	0.64402	D	0.000001	T	0.61476	0.2350	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.995	T	0.61182	-0.7114	10	0.62326	D	0.03	-11.3437	9.8984	0.41334	0.0:0.7856:0.0:0.2144	.	167;174;174	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	N	174;174;174;93;114	ENSP00000420524:K174N;ENSP00000284322:K174N;ENSP00000433993:K174N;ENSP00000435319:K93N;ENSP00000436918:K114N	ENSP00000284322:K174N	K	-	3	2	ABI3BP	102087818	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.938000	0.28965	0.777000	0.33496	0.555000	0.69702	AAG	ABI3BP	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.338	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	C			100605128	-1	no_errors	ENST00000284322	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100605128	C	A	100605128	3	1	131	1	0	0	0	0	1	0	0	0	91	912	32	3	2829	3	ABI3BP	3	100605128	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	93564	100605128	97417302	421	20561										
CEP97	79598	genome.wustl.edu	37	chr3	101476538	101476538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taatgatgatcagttatttgCggttaagaataattttccag	8	4	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:101476538C>T	ENST00000341893.3	+	9	1840	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	CEP97_ENST00000327230.4_Missense_Mutation_p.A363V|CEP97_ENST00000494050.1_Intron			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	363	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGTTATTTGCGGTTAAGAAT	0.378																																																	0													77	73	74					3																	101476538		2203	4300	6503	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1088C>T	3.37:g.101476538C>T	ENSP00000342510:p.Ala363Val		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A363V	ENST00000341893.3	37	c.1088	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780764	0.70222	.	.	ENSG00000182504	ENST00000341893;ENST00000327230	T;T	0.61859	0.07;0.24	5.04	4.16	0.48862	.	0.143273	0.46758	D	0.000267	T	0.57257	0.2041	L	0.58101	1.795	0.39449	D	0.96737	D;P	0.54397	0.966;0.944	B;B	0.44163	0.443;0.174	T	0.63734	-0.6570	10	0.49607	T	0.09	-4.8213	15.4405	0.75178	0.0:0.8603:0.1397:0.0	.	363;363	Q8IW35-2;Q8IW35	.;CEP97_HUMAN	V	363	ENSP00000342510:A363V;ENSP00000325881:A363V	ENSP00000325881:A363V	A	+	2	0	CEP97	102959228	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	2.738000	0.47401	1.096000	0.41439	0.313000	0.20887	GCG	CEP97	-	NULL		0.378	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	C	NM_024548		101476538	1	no_errors	ENST00000327230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101476538	C	T	101476538	3	4	131	1	0	0	0	0	1	0	0	0	3268	768	27	2	1122	2	CEP97	3	101476538	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	871410	101476538	96545892	422	20562										
MYH15	22989	genome.wustl.edu	37	chr3	108172877	108172877	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttccagaatcttctggaatTtgattcgcatcagtttgccc	7	11	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108172877T>G	ENST00000273353.3	-	22	2491	c.2435A>C	c.(2434-2436)aAa>aCa	p.K812T	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	812	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCTGGAATTTGATTCGCAT	0.463																																																	0													101	94	96					3																	108172877		1926	4141	6067	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2435A>C	3.37:g.108172877T>G	ENSP00000273353:p.Lys812Thr			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K812T	ENST00000273353.3	37	c.2435	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709393	0.48517	.	.	ENSG00000144821	ENST00000273353	T	0.72167	-0.63	5.51	3.02	0.34903	.	.	.	.	.	T	0.54431	0.1858	N	0.16656	0.425	0.27110	N	0.962398	B	0.19706	0.038	B	0.15484	0.013	T	0.47275	-0.9130	9	0.51188	T	0.08	.	11.0321	0.47779	0.2371:0.0:0.0:0.7629	.	812	Q9Y2K3	MYH15_HUMAN	T	812	ENSP00000273353:K812T	ENSP00000273353:K812T	K	-	2	0	MYH15	109655567	1.000000	0.71417	0.272000	0.24630	0.938000	0.57974	2.914000	0.48797	0.407000	0.25591	0.533000	0.62120	AAA	MYH15	-	NULL		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	T	XM_036988		108172877	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.998	G	G	108172877	T	G	108172877	3	3	131	1	0	0	0	0	1	0	0	0	10057	1841	64	5	3489	5	MYH15	3	108172877	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6696339	108172877	89849553	423	20563										
MYH15	22989	genome.wustl.edu	37	chr3	108205277	108205277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taacaagccttacttctgtgGccagcaattcttcagcatca	6	12	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108205277G>A	ENST00000273353.3	-	11	1084	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	343	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTTCTGTGGCCAGCAATTC	0.448																																																	0													87	84	85					3																	108205277		1894	4134	6028	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1028C>T	3.37:g.108205277G>A	ENSP00000273353:p.Ala343Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.A343V	ENST00000273353.3	37	c.1028	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209960	0.58343	.	.	ENSG00000144821	ENST00000273353	D	0.87650	-2.28	5.66	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.87277	0.6137	M	0.76002	2.32	0.45515	D	0.998471	B	0.20887	0.049	B	0.25506	0.061	D	0.84847	0.0811	9	0.52906	T	0.07	.	14.6433	0.68742	0.0699:0.0:0.9301:0.0	.	343	Q9Y2K3	MYH15_HUMAN	V	343	ENSP00000273353:A343V	ENSP00000273353:A343V	A	-	2	0	MYH15	109687967	0.998000	0.40836	0.374000	0.26016	0.711000	0.40976	2.909000	0.48758	1.407000	0.46875	0.467000	0.42956	GCC	MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.448	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108205277	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108205277	G	A	108205277	3	1	131	1	0	0	0	0	1	0	0	0	10057	1203	42	4	4940	4	MYH15	3	108205277	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	32400	108205277	89817153	424	20564										
DZIP3	9666	genome.wustl.edu	37	chr3	108355553	108355553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacctggaattgttaaaattTtggtgagtatcttgttttgt	9	3	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108355553T>G	ENST00000361582.3	+	11	1239	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	DZIP3_ENST00000463306.1_Missense_Mutation_p.L337V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	337					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGTTAAAATTTTGGTGAGTAT	0.328																																																	0													217	208	211					3																	108355553		2203	4300	6503	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1009T>G	3.37:g.108355553T>G	ENSP00000355028:p.Leu337Val		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L337V	ENST00000361582.3	37	c.1009	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030662	0.54790	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.48522	0.81;0.81;0.81	4.96	2.56	0.30785	.	0.000000	0.41500	D	0.000866	T	0.45597	0.1350	N	0.19112	0.55	0.29495	N	0.855344	D;D	0.67145	0.996;0.993	D;D	0.80764	0.994;0.987	T	0.30268	-0.9984	10	0.36615	T	0.2	-7.3634	5.3359	0.15957	0.0:0.2344:0.0:0.7656	.	337;337	C9J9M8;Q86Y13	.;DZIP3_HUMAN	V	337	ENSP00000355028:L337V;ENSP00000418115:L337V;ENSP00000419981:L337V	ENSP00000355028:L337V	L	+	1	2	DZIP3	109838243	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.713000	0.25794	0.906000	0.36621	0.455000	0.32223	TTG	DZIP3	-	NULL		0.328	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	T	NM_014648		108355553	1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108355553	T	G	108355553	3	3	131	1	0	0	0	0	1	0	0	0	4875	1838	64	5	1047	5	DZIP3	3	108355553	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	150276	108355553	89666877	425	20565										
DZIP3	9666	genome.wustl.edu	37	chr3	108403096	108403096	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taggaagacctcttgtgaaaGaatctttctttagacccata	7	8	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108403096G>T	ENST00000361582.3	+	27	3147	c.2917G>T	c.(2917-2919)Gaa>Taa	p.E973*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.E973*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	973					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCTTGTGAAAGAATCTTTCTT	0.418																																																	0													143	164	157					3																	108403096		2203	4300	6503	SO:0001587	stop_gained	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2917G>T	3.37:g.108403096G>T	ENSP00000355028:p.Glu973*		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E973*	ENST00000361582.3	37	c.2917	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.245750	0.98724	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	.	.	.	5.45	4.55	0.56014	.	0.115441	0.39020	N	0.001494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.0335	9.2251	0.37402	0.1013:0.0:0.8987:0.0	.	.	.	.	X	973	.	ENSP00000355028:E973X	E	+	1	0	DZIP3	109885786	1.000000	0.71417	0.931000	0.37212	0.991000	0.79684	2.765000	0.47621	1.470000	0.48102	0.655000	0.94253	GAA	DZIP3	-	NULL		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	G	NM_014648		108403096	1	no_errors	ENST00000361582	ensembl	human	known	70_37	nonsense	SNP	0.941	T	T	108403096	G	T	108403096	4	4	131	1	0	0	0	0	0	1	0	0	4875	943	33	3	3019	3	DZIP3	3	108403096	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	47543	108403096	89619334	426	20566										
PVRL3	25945	genome.wustl.edu	37	chr3	110837539	110837539	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgataaaagggccagattCtttaattgatggaggaaatg	11	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:110837539C>A	ENST00000485303.1	+	3	814	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	PVRL3_ENST00000493615.1_Missense_Mutation_p.S157Y|PVRL3_ENST00000319792.3_Missense_Mutation_p.S180Y	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	180	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.S180F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GGGCCAGATTCTTTAATTGAT	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											34	32	33					3																	110837539		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.539C>A	3.37:g.110837539C>A	ENSP00000418070:p.Ser180Tyr		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.S180Y	ENST00000485303.1	37	c.539	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750099	0.89753	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T	0.77877	-1.13;-1.13;-1.13;1.49	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168207	0.52532	D	0.000061	T	0.77678	0.4166	N	0.14661	0.345	0.42308	D	0.992208	D;D	0.57571	0.98;0.975	P;P	0.60345	0.873;0.832	T	0.81733	-0.0798	10	0.72032	D	0.01	.	17.1218	0.86704	0.0:1.0:0.0:0.0	.	157;180	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	Y	180;180;157;165	ENSP00000418070:S180Y;ENSP00000321514:S180Y;ENSP00000420579:S157Y;ENSP00000420479:S165Y	ENSP00000321514:S180Y	S	+	2	0	PVRL3	112320229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.105000	0.64591	2.648000	0.89879	0.650000	0.86243	TCT	PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like		0.368	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	C	NM_015480		110837539	1	no_errors	ENST00000485303	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110837539	C	A	110837539	3	1	131	1	0	0	0	0	1	0	0	0	12871	913	32	3	549	3	PVRL3	3	110837539	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2434443	110837539	87184891	427	20567										
PHLDB2	90102	genome.wustl.edu	37	chr3	111603090	111603090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaaagccaatggagactatTctggctcctatttaaccctc	6	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111603090T>G	ENST00000431670.2	+	2	577	c.166T>G	c.(166-168)Tct>Gct	p.S56A	PHLDB2_ENST00000478922.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S83A|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S56A	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	56						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGAGACTATTCTGGCTCCTA	0.473																																																	0													137	140	139					3																	111603090		2203	4300	6503	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.166T>G	3.37:g.111603090T>G	ENSP00000405405:p.Ser56Ala		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S56A	ENST00000431670.2	37	c.166	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531977	0.45073	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.36157	1.27;1.35;1.29;1.29;1.35;1.29	5.87	5.87	0.94306	.	0.198473	0.45361	D	0.000375	T	0.46405	0.1391	L	0.27053	0.805	0.29611	N	0.846941	B;D;B;B;B	0.67145	0.022;0.996;0.208;0.004;0.004	B;D;B;B;B	0.77557	0.011;0.99;0.084;0.006;0.013	T	0.44360	-0.9333	10	0.41790	T	0.15	.	14.0962	0.65023	0.0:0.0:0.0:1.0	.	56;56;56;56;83	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	A	83;83;56;56;56;56;56;56;56	ENSP00000377500:S83A;ENSP00000405405:S56A;ENSP00000405292:S56A;ENSP00000418296:S56A;ENSP00000377502:S56A;ENSP00000418319:S56A	ENSP00000352764:S83A	S	+	1	0	PHLDB2	113085780	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.879000	0.39618	2.371000	0.80710	0.533000	0.62120	TCT	PHLDB2	-	NULL		0.473	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	T	NM_145753		111603090	1	no_errors	ENST00000393925	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111603090	T	G	111603090	3	3	131	1	0	0	0	0	1	0	0	0	11876	1783	62	5	253	5	PHLDB2	3	111603090	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	765551	111603090	86419340	428	20568										
PHLDB2	90102	genome.wustl.edu	37	chr3	111681103	111681103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgatactctgagcctcgaTagctctgatagcatggagac	10	9	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111681103T>C	ENST00000431670.2	+	13	3432	c.3021T>C	c.(3019-3021)gaT>gaC	p.D1007D	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393925.3_Silent_p.D1007D|PHLDB2_ENST00000481953.1_Silent_p.D964D|PHLDB2_ENST00000412622.1_Silent_p.D964D|PHLDB2_ENST00000393923.3_Silent_p.D991D|PHLDB2_ENST00000495180.1_Silent_p.D498D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1007						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGAGCCTCGATAGCTCTGATA	0.428																																																	0													121	116	118					3																	111681103		2203	4300	6503	SO:0001819	synonymous_variant	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3021T>C	3.37:g.111681103T>C			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1007	ENST00000431670.2	37	c.3021	CCDS46886.1	3																																																																																			PHLDB2	-	NULL		0.428	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	T	NM_145753		111681103	1	no_errors	ENST00000393925	ensembl	human	known	70_37	silent	SNP	0.994	C	C	111681103	T	C	111681103	2	2	131	1	0	0	0	0	0	0	0	1	11876	1403	49	5		5	PHLDB2	3	111681103	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	78013	111681103	86341327	429	20569										
TAGLN3	29114	genome.wustl.edu	37	chr3	111719696	111719696	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctcagagtcaaagatggcTtttaagcagatggagcaaat	10	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111719696T>G	ENST00000393917.2	+	3	810	c.258T>G	c.(256-258)gcT>gcG	p.A86A	TAGLN3_ENST00000478951.1_Silent_p.A86A|TAGLN3_ENST00000273368.4_Silent_p.A86A|TAGLN3_ENST00000455401.2_Silent_p.A86A|TAGLN3_ENST00000486460.1_Silent_p.A2A	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	86	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						CAAAGATGGCTTTTAAGCAGA	0.488																																																	0													178	180	179					3																	111719696		2203	4300	6503	SO:0001819	synonymous_variant	29114			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.258T>G	3.37:g.111719696T>G			D3DN64|Q96A74	Silent	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.A86	ENST00000393917.2	37	c.258	CCDS33816.1	3																																																																																			TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.488	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	T	NM_013259		111719696	1	no_errors	ENST00000273368	ensembl	human	known	70_37	silent	SNP	1.000	G	G	111719696	T	G	111719696	2	3	131	1	0	0	0	0	0	0	0	1	15570	1596	56	5		5	TAGLN3	3	111719696	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	38593	111719696	86302734	430	20570										
CD200R1L	344807	genome.wustl.edu	37	chr3	112534815	112534815	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccttccttcttctttaaaGaacttttctgaaagtattac	3	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:112534815G>T	ENST00000398214.1	-	6	1036	c.811C>A	c.(811-813)Ctt>Att	p.L271I	CD200R1L_ENST00000488794.1_Missense_Mutation_p.L250I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.L250I	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	271						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						cttctttaaagaacttttctg	0.408																																																	0													66	66	66					3																	112534815		1851	4094	5945	SO:0001583	missense	344807			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.811C>A	3.37:g.112534815G>T	ENSP00000381272:p.Leu271Ile		Q6WHB7	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.L271I	ENST00000398214.1	37	c.811	CCDS43131.1	3	.	.	.	.	.	.	.	.	.	.	G	2.778	-0.254180	0.05829	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.19938	2.11;2.13;2.13	4.22	1.4	0.22301	.	1.536440	0.04933	U	0.457247	T	0.15998	0.0385	N	0.03608	-0.345	0.09310	N	1	D	0.56968	0.978	P	0.51895	0.683	T	0.26018	-1.0115	10	0.87932	D	0	.	6.5614	0.22489	0.3016:0.0:0.6984:0.0	.	271	Q6Q8B3	MO2R2_HUMAN	I	271;250;250	ENSP00000381272:L271I;ENSP00000418413:L250I;ENSP00000415132:L250I	ENSP00000381272:L271I	L	-	1	0	CD200R1L	114017505	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	0.095000	0.15127	0.298000	0.22638	0.609000	0.83330	CTT	CD200R1L	-	NULL		0.408	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	HGNC	protein_coding	OTTHUMT00000354365.1	G	NM_001008784		112534815	-1	no_errors	ENST00000398214	ensembl	human	known	70_37	missense	SNP	0.001	T	T	112534815	G	T	112534815	3	4	131	1	0	0	0	0	1	0	0	0	2987	942	33	3	8	3	CD200R1L	3	112534815	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	815119	112534815	85487615	431	20571										
GTPBP8	29083	genome.wustl.edu	37	chr3	112714067	112714067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatggctttagagcacctgAagattttgttgacatggtag	11	5	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:112714067A>G	ENST00000383678.2	+	3	603	c.521A>G	c.(520-522)gAa>gGa	p.E174G	GTPBP8_ENST00000467752.1_Missense_Mutation_p.E63G|GTPBP8_ENST00000473129.1_Missense_Mutation_p.E24G|GTPBP8_ENST00000383677.3_Missense_Mutation_p.E141G	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	174	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGAGCACCTGAAGATTTTGTT	0.333																																																	0													73	78	76					3																	112714067		2203	4299	6502	SO:0001583	missense	29083			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.521A>G	3.37:g.112714067A>G	ENSP00000373176:p.Glu174Gly		A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E174G	ENST00000383678.2	37	c.521	CCDS33820.1	3	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300342	0.60195	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485;ENST00000467752;ENST00000473129	T;T;T;T	0.72282	2.18;6.68;2.18;-0.64	5.81	4.59	0.56863	GTP-binding domain, HSR1-related (1);	0.268450	0.42172	D	0.000751	T	0.72740	0.3498	M	0.81112	2.525	0.38642	D	0.951637	D;B	0.53745	0.962;0.238	B;B	0.44108	0.441;0.125	T	0.80214	-0.1475	10	0.66056	D	0.02	-21.274	11.8234	0.52252	0.8537:0.1463:0.0:0.0	.	141;174	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	G	174;141;197;63;24	ENSP00000373176:E174G;ENSP00000373175:E141G;ENSP00000417632:E63G;ENSP00000418514:E24G	ENSP00000303802:E197G	E	+	2	0	GTPBP8	114196757	0.903000	0.30736	1.000000	0.80357	0.978000	0.69477	1.731000	0.38135	2.222000	0.72286	0.533000	0.62120	GAA	GTPBP8	-	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC		0.333	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	A	NM_014170		112714067	1	no_errors	ENST00000383678	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112714067	A	G	112714067	3	3	131	1	0	0	0	0	1	0	0	0	6904	246	9	5	531	5	GTPBP8	3	112714067	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	179252	112714067	85308363	432	20572										
SIDT1	54847	genome.wustl.edu	37	chr3	113345005	113345005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcattctgctggatttcttCgatgaccatgacatctggca	9	10	3	2	rs150661858		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:113345005C>T	ENST00000264852.4	+	24	3090	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.F793F	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	788					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGATTTCTTCGATGACCATG	0.488																																																	0													271	249	256					3																	113345005		2203	4300	6503	SO:0001819	synonymous_variant	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2364C>T	3.37:g.113345005C>T			Q17RR4	Silent	SNP	NULL	p.F793	ENST00000264852.4	37	c.2379	CCDS2974.1	3																																																																																			SIDT1	-	NULL		0.488	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	C	NM_017699		113345005	1	no_errors	ENST00000393830	ensembl	human	known	70_37	silent	SNP	0.999	T	T	113345005	C	T	113345005	2	4	131	1	0	0	0	0	0	0	0	1	14332	883	31	1		1	SIDT1	3	113345005	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	630938	113345005	84677425	433	20573										
GRAMD1C	54762	genome.wustl.edu	37	chr3	113655209	113655209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagaaggcgaaccttcaaccGaacagcagaaacagttccta	9	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:113655209G>A	ENST00000358160.4	+	14	2045	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R313Q|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R247Q|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R351Q|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	518						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACCTTCAACCGAACAGCAGAA	0.433																																																	0													126	122	124					3																	113655209		2203	4300	6503	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1553G>A	3.37:g.113655209G>A	ENSP00000350881:p.Arg518Gln		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.R518Q	ENST00000358160.4	37	c.1553	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972326	0.92919	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	6.06	5.16	0.70880	.	0.236249	0.35096	N	0.003442	T	0.42854	0.1221	L	0.60957	1.885	0.43263	D	0.995203	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.92	T	0.23619	-1.0183	10	0.16420	T	0.52	.	14.0087	0.64481	0.0:0.0:0.8379:0.1621	.	351;518	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	Q	518;247;351;313;313	ENSP00000350881:R518Q;ENSP00000399844:R247Q;ENSP00000419132:R351Q;ENSP00000418302:R313Q;ENSP00000408135:R313Q	ENSP00000350881:R518Q	R	+	2	0	GRAMD1C	115137899	1.000000	0.71417	0.908000	0.35775	0.960000	0.62799	4.469000	0.60169	1.493000	0.48517	0.655000	0.94253	CGA	GRAMD1C	-	NULL		0.433	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	G	NM_017577		113655209	1	no_errors	ENST00000358160	ensembl	human	known	70_37	missense	SNP	0.995	A	A	113655209	G	A	113655209	3	1	131	1	0	0	0	0	1	0	0	0	6769	1058	37	1	1607	1	GRAMD1C	3	113655209	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	310204	113655209	84367221	434	20574										
GRAMD1C	54762	genome.wustl.edu	37	chr3	113658832	113658832	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtctccgcctccaagaagaGaaatctttaaagtaagtctt	7	10	3	2	rs267599550		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:113658832G>T	ENST00000358160.4	+	16	2283	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E392D|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.E326D|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E430D|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	597						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCCAAGAAGAGAAATCTTTAA	0.373																																																	0													121	118	119					3																	113658832		2203	4300	6503	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1791G>T	3.37:g.113658832G>T	ENSP00000350881:p.Glu597Asp		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E597D	ENST00000358160.4	37	c.1791	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195764	0.38806	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	T;T;T;T	0.46819	1.47;0.87;0.88;0.86	5.53	0.131	0.14755	.	0.241866	0.41823	D	0.000803	T	0.31857	0.0810	L	0.40543	1.245	0.23496	N	0.997558	B;B	0.18610	0.029;0.012	B;B	0.18561	0.022;0.006	T	0.14924	-1.0455	10	0.40728	T	0.16	.	5.5346	0.17003	0.3495:0.1376:0.5128:0.0	.	430;597	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	D	597;326;430;392	ENSP00000350881:E597D;ENSP00000399844:E326D;ENSP00000419132:E430D;ENSP00000408135:E392D	ENSP00000350881:E597D	E	+	3	2	GRAMD1C	115141522	0.756000	0.28383	0.999000	0.59377	0.918000	0.54935	0.045000	0.14013	0.326000	0.23384	0.650000	0.86243	GAG	GRAMD1C	-	NULL		0.373	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	G	NM_017577		113658832	1	no_errors	ENST00000358160	ensembl	human	known	70_37	missense	SNP	0.996	T	T	113658832	G	T	113658832	3	4	131	1	0	0	0	0	1	0	0	0	6769	933	33	3	1853	3	GRAMD1C	3	113658832	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3623	113658832	84363598	435	20575										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119120696	119120696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaccaagggaaatttcaatcGaacagttaccaccggtggat	9	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:119120696G>A	ENST00000264245.4	+	10	1629	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	366					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.R366Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATTTCAATCGAACAGTTACC	0.512																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	large_intestine(1)											29	32	31					3																	119120696		1923	4132	6055	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1097G>A	3.37:g.119120696G>A	ENSP00000264245:p.Arg366Gln		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R366Q	ENST00000264245.4	37	c.1097	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288097	0.80803	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.09255	3.0	5.48	5.48	0.80851	.	0.212247	0.32785	N	0.005649	T	0.17023	0.0409	M	0.64997	1.995	0.40145	D	0.97688	D	0.53745	0.962	B	0.42319	0.383	T	0.01188	-1.1424	10	0.87932	D	0	.	18.5258	0.90971	0.0:0.0:1.0:0.0	.	366	Q2M1Z3	RHG31_HUMAN	Q	366	ENSP00000264245:R366Q	ENSP00000264245:R366Q	R	+	2	0	ARHGAP31	120603386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.895000	0.48648	2.850000	0.98022	0.655000	0.94253	CGA	ARHGAP31	-	NULL		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119120696	1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119120696	G	A	119120696	3	1	131	1	0	0	0	0	1	0	0	0	880	1058	37	1	1135	1	ARHGAP31	3	119120696	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5461864	119120696	78901734	436	20576										
C3orf15	89876	genome.wustl.edu	37	chr3	119449158	119449158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atatgaagcacttgaatgccCggtggtctaaactgcaggag	12	8	1	2	rs374317339		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:119449158C>T	ENST00000273390.5	+	8	1029	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	318						mitochondrion (GO:0005739)		p.R318W(1)									CTTGAATGCCCGGTGGTCTAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											192	196	195					3																	119449158		2203	4300	6503	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.952C>T	3.37:g.119449158C>T	ENSP00000273390:p.Arg318Trp		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.R318W	ENST00000273390.5	37	c.952	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397649	0.62177	.	.	ENSG00000183833	ENST00000273390	T	0.22336	1.96	5.2	3.3	0.37823	.	0.711873	0.14769	N	0.299528	T	0.34571	0.0902	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.998;0.995;0.999;0.995	P;P;P;P;P	0.56278	0.764;0.711;0.711;0.795;0.736	T	0.06215	-1.0839	10	0.66056	D	0.02	-20.1193	13.8788	0.63670	0.2982:0.7018:0.0:0.0	.	318;79;256;318;318	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	W	318	ENSP00000273390:R318W	ENSP00000273390:R318W	R	+	1	2	C3orf15	120931848	0.011000	0.17503	0.966000	0.40874	0.751000	0.42716	1.946000	0.40283	0.590000	0.29694	0.557000	0.71058	CGG	MAATS1	-	NULL		0.438	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	C	NM_033364		119449158	1	no_errors	ENST00000273390	ensembl	human	known	70_37	missense	SNP	0.959	T	T	119449158	C	T	119449158	3	4	131	1	0	0	0	0	1	0	0	0	2214	643	23	2	982	2	C3orf15	3	119449158	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	328462	119449158	78573272	437	20577										
GPR156	165829	genome.wustl.edu	37	chr3	119900017	119900017	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attgtagttgtacaaacaaaGatccctccagatgtgagtcc	8	9	0	3	rs369591611		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:119900017G>T	ENST00000464295.1	-	8	1333	c.888C>A	c.(886-888)atC>atA	p.I296I	GPR156_ENST00000461057.1_Silent_p.I292I|GPR156_ENST00000315843.3_Silent_p.I296I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAAACAAAGATCCCTCCAG	0.473																																																	0													91	91	91					3																	119900017		2203	4300	6503	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.888C>A	3.37:g.119900017G>T			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.I296	ENST00000464295.1	37	c.888	CCDS2997.1	3																																																																																			GPR156	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B		0.473	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	G	NM_153002		119900017	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	silent	SNP	1.000	T	T	119900017	G	T	119900017	2	4	131	1	0	0	0	0	0	0	0	1	6680	932	33	3		3	GPR156	3	119900017	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	450859	119900017	78122413	438	20578										
POLQ	10721	genome.wustl.edu	37	chr3	121209199	121209199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgccagtcacccagatagttCgcatattgcgacgttcttca	8	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121209199C>T	ENST00000264233.5	-	16	2707	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	860					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.R995Q(2)		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)		CCAGATAGTTCGCATATTGCG	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												2	Substitution - Missense(2)	large_intestine(2)											170	150	157					3																	121209199		2203	4300	6503	SO:0001583	missense	10721			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.2579G>A	3.37:g.121209199C>T	ENSP00000264233:p.Arg860Gln		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.R860Q	ENST00000264233.5	37	c.2579	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424279	0.62733	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.47	2.69	0.31865	.	0.250174	0.40908	N	0.000990	T	0.52693	0.1750	M	0.86178	2.8	0.46774	D	0.999199	B;B	0.28636	0.218;0.196	B;B	0.18871	0.023;0.017	T	0.56780	-0.7922	10	0.72032	D	0.01	.	9.8985	0.41334	0.0:0.7218:0.0:0.2782	.	860;32	O75417;O75417-2	DPOLQ_HUMAN;.	Q	483;860;996	ENSP00000264233:R860Q	ENSP00000264233:R860Q	R	-	2	0	POLQ	122691889	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.478000	0.35442	0.684000	0.31448	0.557000	0.71058	CGA	POLQ	-	NULL		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121209199	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121209199	C	T	121209199	3	4	131	1	0	0	0	0	1	0	0	0	12232	884	31	1	5253	1	POLQ	3	121209199	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1309182	121209199	76813231	439	20579										
GOLGB1	2804	genome.wustl.edu	37	chr3	121409629	121409629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttcccttcctctgactttCgaaatttctccagctcattc	4	15	3	1	rs529043980		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121409629C>T	ENST00000340645.5	-	14	8692	c.8567G>A	c.(8566-8568)cGa>cAa	p.R2856Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R2861Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2856					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTGACTTTCGAAATTTCTC	0.458																																																	0													62	60	61					3																	121409629		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8567G>A	3.37:g.121409629C>T	ENSP00000341848:p.Arg2856Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R2856Q	ENST00000340645.5	37	c.8567	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375656	0.42105	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17370	2.28;2.28	5.3	4.43	0.53597	.	0.000000	0.64402	D	0.000017	T	0.23014	0.0556	L	0.29908	0.895	0.38707	D	0.953125	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.83275	0.996;0.602;0.992	T	0.15723	-1.0427	10	0.14252	T	0.57	.	7.4073	0.26998	0.0:0.7441:0.1681:0.0878	.	2861;2861;2856	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2856;2861	ENSP00000341848:R2856Q;ENSP00000377275:R2861Q	ENSP00000341848:R2856Q	R	-	2	0	GOLGB1	122892319	0.719000	0.27986	0.993000	0.49108	0.985000	0.73830	1.472000	0.35376	1.473000	0.48159	0.655000	0.94253	CGA	GOLGB1	-	superfamily_STAT_TF_coiled-coil		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121409629	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.998	T	T	121409629	C	T	121409629	3	4	131	1	0	0	0	0	1	0	0	0	6584	884	31	1	1248	1	GOLGB1	3	121409629	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	200430	121409629	76612801	440	20580										
GOLGB1	2804	genome.wustl.edu	37	chr3	121413301	121413301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtagctgctttacttcttgTtgtttttcttttaacagttc	6	7	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121413301T>C	ENST00000340645.5	-	13	6179	c.6054A>G	c.(6052-6054)caA>caG	p.Q2018Q	GOLGB1_ENST00000393667.3_Silent_p.Q2023Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2018					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACTTCTTGTTGTTTTTCTT	0.363																																																	0													148	152	150					3																	121413301		2203	4299	6502	SO:0001819	synonymous_variant	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6054A>G	3.37:g.121413301T>C			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q2018	ENST00000340645.5	37	c.6054	CCDS3004.1	3																																																																																			GOLGB1	-	superfamily_Prefoldin		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121413301	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	silent	SNP	0.821	C	C	121413301	T	C	121413301	2	2	131	1	0	0	0	0	0	0	0	1	6584	1722	60	5		5	GOLGB1	3	121413301	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3672	121413301	76609129	441	20581										
ILDR1	286676	genome.wustl.edu	37	chr3	121720196	121720196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggcaggacagcagggacagCggatatagcagcagcaatac	15	9	0	0	rs146174741		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121720196C>T	ENST00000344209.5	-	5	731	c.605G>A	c.(604-606)cGc>cAc	p.R202H	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000273691.3_Missense_Mutation_p.R202H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R214H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	202	Cys-rich.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCAGGGACAGCGGATATAGCA	0.572																																																	0								C	HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	80	84		605,,605	6	1	3	dbSNP_134	84	0,8600		0,0,4300	no	missense,intron,missense	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	29,,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,,probably-damaging	202/547,,202/503	121720196	1,13005	2203	4300	6503	SO:0001583	missense	286676			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.605G>A	3.37:g.121720196C>T	ENSP00000345667:p.Arg202His		Q6ZP61|Q7Z578	Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.R202H	ENST00000344209.5	37	c.605	CCDS56271.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.331651	0.95733	2.27E-4	0.0	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000462014	T;T;T	0.60797	0.16;0.16;0.16	5.98	5.98	0.97165	LISCH7 (1);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72769	-0.4193	10	0.30854	T	0.27	-10.2811	17.95	0.89050	0.0:1.0:0.0:0.0	.	202;202;214	Q86SU0;Q86SU0-2;Q86SU0-6	ILDR1_HUMAN;.;.	H	202;202;214	ENSP00000273691:R202H;ENSP00000345667:R202H;ENSP00000419414:R214H	ENSP00000273691:R202H	R	-	2	0	ILDR1	123202886	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.670000	0.54569	2.847000	0.97988	0.591000	0.81541	CGC	ILDR1	-	pfam_LISCH7		0.572	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	C	NM_175924		121720196	-1	no_errors	ENST00000344209	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121720196	C	T	121720196	3	4	131	1	0	0	0	0	1	0	0	0	7729	768	27	2	915	2	ILDR1	3	121720196	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	306895	121720196	76302234	442	20582										
PARP14	54625	genome.wustl.edu	37	chr3	122418266	122418266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatcatggccacaaaactcGacttcaataaaatgccactt	4	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:122418266G>A	ENST00000474629.2	+	6	1131	c.865G>A	c.(865-867)Gac>Aac	p.D289N		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CACAAAACTCGACTTCAATAA	0.383																																																	0													78	71	73					3																	122418266		1907	4116	6023	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.865G>A	3.37:g.122418266G>A	ENSP00000418194:p.Asp289Asn		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D289N	ENST00000474629.2	37	c.865	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285813	0.23478	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.71579	-0.58	5.46	-1.29	0.09288	.	2.205370	0.01599	N	0.021927	T	0.60170	0.2248	L	0.51422	1.61	0.09310	N	1	B;B	0.15719	0.006;0.014	B;B	0.08055	0.003;0.002	T	0.22382	-1.0218	10	0.32370	T	0.25	.	1.0014	0.01478	0.2498:0.111:0.3394:0.2998	.	289;289	Q460N5-4;Q460N5	.;PAR14_HUMAN	N	289;208	ENSP00000418194:D289N	ENSP00000381228:D208N	D	+	1	0	PARP14	123900956	0.000000	0.05858	0.003000	0.11579	0.853000	0.48598	-0.164000	0.09983	0.063000	0.16370	0.655000	0.94253	GAC	PARP14	-	NULL		0.383	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122418266	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.000	A	A	122418266	G	A	122418266	3	1	131	1	0	0	0	0	1	0	0	0	11482	1058	37	1	887	1	PARP14	3	122418266	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	698070	122418266	75604164	443	20583										
ADCY5	111	genome.wustl.edu	37	chr3	123051434	123051434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccagcttgtcaaagcgggCgaagagctcgttgagggtca	16	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:123051434C>T	ENST00000462833.1	-	4	2707	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	ADCY5_ENST00000491190.1_Missense_Mutation_p.A132T|ADCY5_ENST00000309879.5_Missense_Mutation_p.A149T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	499	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCAAAGCGGGCGAAGAGCTCG	0.637																																																	0													43	39	40					3																	123051434		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1495G>A	3.37:g.123051434C>T	ENSP00000419361:p.Ala499Thr		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A499T	ENST00000462833.1	37	c.1495	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.742268	0.96873	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.89171	0.6639	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90556	0.4512	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	499;132	O95622;B3KWA8	ADCY5_HUMAN;.	T	499;132;149;58;58	ENSP00000419361:A499T;ENSP00000418537:A132T;ENSP00000308685:A149T;ENSP00000420082:A58T;ENSP00000420252:A58T	ENSP00000308685:A149T	A	-	1	0	ADCY5	124534124	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	GCC	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.637	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	C	XM_171048		123051434	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123051434	C	T	123051434	3	4	131	1	0	0	0	0	1	0	0	0	297	768	27	2	2362	2	ADCY5	3	123051434	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	633168	123051434	74970996	444	20584										
ITGB5	3693	genome.wustl.edu	37	chr3	124482543	124482543	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtgtgcgtggagataggcTttctgtataatggatttgaa	13	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:124482543T>G	ENST00000296181.4	-	15	2623	c.2327A>C	c.(2326-2328)aAg>aCg	p.K776T	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	776					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGAGATAGGCTTTCTGTATAA	0.507																																																	0													165	133	144					3																	124482543		2203	4300	6503	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2327A>C	3.37:g.124482543T>G	ENSP00000296181:p.Lys776Thr		B0LPF8|B2RD70	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu	p.K776T	ENST00000296181.4	37	c.2327	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565880	0.27915	.	.	ENSG00000082781	ENST00000296181	D	0.88586	-2.4	5.92	5.92	0.95590	Integrin beta subunit, cytoplasmic (2);	0.310629	0.36101	N	0.002783	D	0.85331	0.5672	L	0.39898	1.24	0.42558	D	0.993137	P	0.37594	0.601	B	0.37833	0.259	D	0.85251	0.1044	10	0.41790	T	0.15	.	14.9358	0.70954	0.0:0.0:0.0:1.0	.	776	P18084	ITB5_HUMAN	T	776	ENSP00000296181:K776T	ENSP00000296181:K776T	K	-	2	0	ITGB5	125965233	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	6.216000	0.72212	2.263000	0.75096	0.533000	0.62120	AAG	ITGB5	-	pfam_Integrin_bsu_cyt,pirsf_Integrin_bsu,prints_Integrin_bsu		0.507	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	T	NM_002213		124482543	-1	no_errors	ENST00000296181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124482543	T	G	124482543	3	3	131	1	0	0	0	0	1	0	0	0	7918	1609	56	5	76	5	ITGB5	3	124482543	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1431109	124482543	73539887	445	20585										
OSBPL11	114885	genome.wustl.edu	37	chr3	125271449	125271449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttagtgatggctataaatagGtctggatgagacataaagtc	11	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:125271449G>A	ENST00000296220.5	-	9	1519	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	410					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTATAAATAGGTCTGGATGAG	0.433																																																	0													123	117	119					3																	125271449		2203	4300	6503	SO:0001819	synonymous_variant	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1230C>T	3.37:g.125271449G>A			A8K9I7	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D410	ENST00000296220.5	37	c.1230	CCDS3033.1	3																																																																																			OSBPL11	-	pfam_Oxysterol-bd		0.433	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	G	NM_022776		125271449	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	silent	SNP	1.000	A	A	125271449	G	A	125271449	2	1	131	1	0	0	0	0	0	0	0	1	11300	1252	44	4		4	OSBPL11	3	125271449	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	788906	125271449	72750981	446	20586										
UROC1	131669	genome.wustl.edu	37	chr3	126217012	126217012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaaatccctgggagaatatGtccctgcaagcacagatgcc	9	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:126217012G>T	ENST00000290868.2	-	14	1373	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	UROC1_ENST00000383579.3_Missense_Mutation_p.D500E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	440					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGGAGAATATGTCCCTGCAAG	0.642																																																	0													130	139	136					3																	126217012		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1320C>A	3.37:g.126217012G>T	ENSP00000290868:p.Asp440Glu		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.D440E	ENST00000290868.2	37	c.1320	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096575	0.20552	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.42900	0.96;0.96	4.4	1.34	0.21922	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.86573	2.825	0.58432	D	0.999999	D;D	0.60160	0.972;0.987	P;D	0.67382	0.721;0.951	T	0.58769	-0.7578	10	0.87932	D	0	-2.082	4.926	0.13894	0.2142:0.1774:0.6083:0.0	.	500;440	E9PE13;Q96N76	.;HUTU_HUMAN	E	440;500	ENSP00000290868:D440E;ENSP00000373073:D500E	ENSP00000290868:D440E	D	-	3	2	UROC1	127699702	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.874000	0.39568	0.313000	0.23062	-0.339000	0.08088	GAC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	G	NM_144639		126217012	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126217012	G	T	126217012	3	4	131	1	0	0	0	0	1	0	0	0	17059	1368	48	4	738	4	UROC1	3	126217012	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	945563	126217012	71805418	447	20587										
MBD4	8930	genome.wustl.edu	37	chr3	129155555	129155555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaatgatctttctttttttTttacaaggctgttttcttca	4	7	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:129155555T>G	ENST00000249910.1	-	3	1107	c.932A>C	c.(931-933)aAa>aCa	p.K311T	MBD4_ENST00000503197.1_Missense_Mutation_p.K311T|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.K311T|MBD4_ENST00000429544.2_Missense_Mutation_p.K311T|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	311					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTTTTTTACAAGGCT	0.378								Base excision repair (BER), DNA glycosylases																																									0													73	80	78					3																	129155555		2202	4299	6501	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.932A>C	3.37:g.129155555T>G	ENSP00000249910:p.Lys311Thr		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.K311T	ENST00000249910.1	37	c.932	CCDS3058.1	3	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096825	0.36952	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.93659	-3.05;-3.06;-3.26;-3.26	5.57	1.74	0.24563	.	2.014050	0.03833	U	0.269315	D	0.86636	0.5980	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27932	0.123;0.115;0.194;0.07	B;B;B;B	0.23419	0.021;0.046;0.046;0.021	T	0.75803	-0.3189	10	0.18276	T	0.48	.	4.2289	0.10594	0.0:0.1809:0.1747:0.6444	.	311;311;311;311	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	T	311	ENSP00000394080:K311T;ENSP00000249910:K311T;ENSP00000424873:K311T;ENSP00000422327:K311T	ENSP00000249910:K311T	K	-	2	0	MBD4	130638245	0.000000	0.05858	0.010000	0.14722	0.365000	0.29674	0.292000	0.19011	0.948000	0.37687	0.529000	0.55759	AAA	MBD4	-	pirsf_Me_CpG-bd_MBD4		0.378	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1	T	NM_003925		129155555	-1	no_errors	ENST00000249910	ensembl	human	known	70_37	missense	SNP	0.005	G	G	129155555	T	G	129155555	3	3	131	1	0	0	0	0	1	0	0	0	9369	1841	64	5	834	5	MBD4	3	129155555	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2938543	129155555	68866875	448	20588										
IFT122	55764	genome.wustl.edu	37	chr3	129234393	129234393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgctcaacaacctgggcaaCgtctgcatcaactgccgcca	8	16	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:129234393C>T	ENST00000348417.2	+	26	3293	c.3216C>T	c.(3214-3216)aaC>aaT	p.N1072N	IFT122_ENST00000347300.2_Silent_p.N1013N|IFT122_ENST00000296266.3_Silent_p.N1123N|IFT122_ENST00000431818.2_Silent_p.N922N|IFT122_ENST00000349441.2_Silent_p.N962N|IFT122_ENST00000504021.1_Silent_p.N949N|IFT122_ENST00000507564.1_Silent_p.N1065N|IFT122_ENST00000440957.2_Silent_p.N863N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1072					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACCTGGGCAACGTCTGCATCA	0.622																																																	0													42	36	38					3																	129234393		2202	4277	6479	SO:0001819	synonymous_variant	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3216C>T	3.37:g.129234393C>T			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1123	ENST00000348417.2	37	c.3369	CCDS3061.1	3																																																																																			IFT122	-	NULL		0.622	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	C	NM_018262		129234393	1	no_errors	ENST00000296266	ensembl	human	known	70_37	silent	SNP	0.566	T	T	129234393	C	T	129234393	2	4	131	1	0	0	0	0	0	0	0	1	7575	535	19	2		2	IFT122	3	129234393	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	78838	129234393	68788037	449	20589										
COL6A6	131873	genome.wustl.edu	37	chr3	130287239	130287239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctcatcctcatcacggAtggtgaagctcaggacatag	10	10	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:130287239A>G	ENST00000358511.6	+	5	2223	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	COL6A6_ENST00000453409.2_Missense_Mutation_p.D731G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	731	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCATCACGGATGGTGAAGCT	0.522																																																	0													93	96	95					3																	130287239		1962	4143	6105	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2192A>G	3.37:g.130287239A>G	ENSP00000351310:p.Asp731Gly		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D731G	ENST00000358511.6	37	c.2192	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	A	17.72	3.460269	0.63401	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.92099	-2.97;-2.97	5.51	5.51	0.81932	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.95928	0.8674	M	0.81341	2.54	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.95934	0.8941	10	0.51188	T	0.08	.	15.2765	0.73745	1.0:0.0:0.0:0.0	.	731	A6NMZ7	CO6A6_HUMAN	G	731	ENSP00000351310:D731G;ENSP00000399236:D731G	ENSP00000351310:D731G	D	+	2	0	COL6A6	131769929	1.000000	0.71417	0.204000	0.23530	0.407000	0.30961	5.828000	0.69307	2.088000	0.63022	0.533000	0.62120	GAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.522	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	A	NM_001102608		130287239	1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	1.000	G	G	130287239	A	G	130287239	3	3	131	1	0	0	0	0	1	0	0	0	3708	333	12	5	2210	5	COL6A6	3	130287239	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1052846	130287239	67735191	450	20590										
CLDN18	51208	genome.wustl.edu	37	chr3	137729205	137729205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcacctccgtgttccagtaCgaagggctctggaggagctg	14	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:137729205C>T	ENST00000183605.5	+	1	364	c.138C>T	c.(136-138)taC>taT	p.Y46Y	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	46					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TGTTCCAGTACGAAGGGCTCT	0.632																																																	0													75	68	70					3																	137729205		2203	4300	6503	SO:0001819	synonymous_variant	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.138C>T	3.37:g.137729205C>T			A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.Y46	ENST00000183605.5	37	c.138	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin		0.632	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	C	NM_001002026		137729205	1	no_errors	ENST00000183605	ensembl	human	known	70_37	silent	SNP	0.990	T	T	137729205	C	T	137729205	2	4	131	1	0	0	0	0	0	0	0	1	3484	547	19	2		2	CLDN18	3	137729205	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7441966	137729205	60293225	451	20591										
ARMC8	25852	genome.wustl.edu	37	chr3	137960643	137960643	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agacattaccttgtttggttCgaatgtgcagtaaggagaga	12	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:137960643C>T	ENST00000469044.1	+	11	1127	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ARMC8_ENST00000489213.1_Nonsense_Mutation_p.R244*|ARMC8_ENST00000485396.1_Nonsense_Mutation_p.R213*|ARMC8_ENST00000470821.1_Nonsense_Mutation_p.R286*|ARMC8_ENST00000471453.1_Nonsense_Mutation_p.R272*|ARMC8_ENST00000393058.3_Nonsense_Mutation_p.R276*|ARMC8_ENST00000491704.1_Nonsense_Mutation_p.R244*|ARMC8_ENST00000538260.1_Nonsense_Mutation_p.R255*|ARMC8_ENST00000358441.2_Nonsense_Mutation_p.R272*|ARMC8_ENST00000481646.1_Nonsense_Mutation_p.R272*|ARMC8_ENST00000461822.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	286										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTGTTTGGTTCGAATGTGCAG	0.388																																																	0													121	110	114					3																	137960643		2203	4300	6503	SO:0001587	stop_gained	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.856C>T	3.37:g.137960643C>T	ENSP00000419413:p.Arg286*		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R286*	ENST00000469044.1	37	c.856		3	.	.	.	.	.	.	.	.	.	.	C	40	8.405219	0.98796	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.206	17.546	0.87861	0.0:1.0:0.0:0.0	.	.	.	.	X	272;286;244;272;244;213;272;286;255;276;180;143	.	ENSP00000351221:R272X	R	+	1	2	ARMC8	139443333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.973000	0.70456	2.737000	0.93849	0.563000	0.77884	CGA	ARMC8	-	superfamily_ARM-type_fold		0.388	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	C	NM_015396		137960643	1	no_errors	ENST00000469044	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	137960643	C	T	137960643	4	4	131	1	0	0	0	0	0	1	0	0	958	876	31	1	856	1	ARMC8	3	137960643	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	231438	137960643	60061787	452	20592										
CLSTN2	64084	genome.wustl.edu	37	chr3	140122483	140122483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctgcaggggaaatctgtgCgttcaagatccatggccagg	13	9	3	1	rs529034321		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:140122483C>T	ENST00000458420.3	+	3	435	c.245C>T	c.(244-246)gCg>gTg	p.A82V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAAATCTGTGCGTTCAAGATC	0.532										HNSCC(16;0.037)			C|||	1	0.000199681	0	0	5008	,	,		18997	0		0	False		,,,				2504	0.001				GBM(45;858 913 3709 36904 37282)												0													165	157	160					3																	140122483		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.245C>T	3.37:g.140122483C>T	ENSP00000402460:p.Ala82Val		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A82V	ENST00000458420.3	37	c.245	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040343	0.75732	.	.	ENSG00000158258	ENST00000458420	T	0.37584	1.19	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.38838	1.175	0.54753	D	0.999985	D	0.67145	0.996	P	0.54664	0.758	T	0.15636	-1.0430	10	0.40728	T	0.16	8.0285	17.1916	0.86881	0.0:1.0:0.0:0.0	.	82	Q9H4D0	CSTN2_HUMAN	V	82	ENSP00000402460:A82V	ENSP00000402460:A82V	A	+	2	0	CLSTN2	141605173	0.971000	0.33674	0.875000	0.34327	0.789000	0.44602	2.229000	0.42990	2.649000	0.89929	0.650000	0.86243	GCG	CLSTN2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	C	NM_022131		140122483	1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	0.981	T	T	140122483	C	T	140122483	3	4	131	1	0	0	0	0	1	0	0	0	3567	768	27	2	255	2	CLSTN2	3	140122483	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2161840	140122483	57899947	453	20593										
TRPC1	7220	genome.wustl.edu	37	chr3	142522890	142522890	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtggcaatctttgtcacaaGatttagctatggagaagaac	10	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:142522890G>T	ENST00000476941.1	+	11	2315	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	TRPC1_ENST00000273482.6_Missense_Mutation_p.R576I|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	610					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTTGTCACAAGATTTAGCTAT	0.418																																																	0													148	132	137					3																	142522890		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1829G>T	3.37:g.142522890G>T	ENSP00000419313:p.Arg610Ile		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R610I	ENST00000476941.1	37	c.1829	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538686	0.65085	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98221	-4.8;-4.8	5.33	5.33	0.75918	Ion transport (1);	0.056774	0.64402	D	0.000004	D	0.95364	0.8495	L	0.29908	0.895	0.80722	D	1	B;B;B	0.28470	0.095;0.213;0.007	B;B;B	0.24701	0.038;0.055;0.009	D	0.93598	0.6927	10	0.42905	T	0.14	-1.5586	14.266	0.66118	0.0:0.0:0.8511:0.1489	.	576;610;576	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	I	610;576;129	ENSP00000419313:R610I;ENSP00000273482:R576I	ENSP00000273482:R576I	R	+	2	0	TRPC1	144005580	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	9.546000	0.98097	2.654000	0.90174	0.650000	0.86243	AGA	TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel		0.418	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	G	NM_003304		142522890	1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	0.721	T	T	142522890	G	T	142522890	3	4	131	1	0	0	0	0	1	0	0	0	16609	942	33	3	1765	3	TRPC1	3	142522890	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2400407	142522890	55499540	454	20594										
AGTR1	185	genome.wustl.edu	37	chr3	148458860	148458860	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tactgaagatggtattaaaaGaatccaagatgattgtccca	8	6	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:148458860G>T	ENST00000497524.1	+	2	429	c.38G>T	c.(37-39)aGa>aTa	p.R13I	AGTR1_ENST00000402260.1_Missense_Mutation_p.R13I|AGTR1_ENST00000404754.2_Missense_Mutation_p.R13I|AGTR1_ENST00000349243.3_Missense_Mutation_p.R13I|AGTR1_ENST00000474935.1_Missense_Mutation_p.R13I|AGTR1_ENST00000475347.1_Missense_Mutation_p.R13I|AGTR1_ENST00000418473.2_Missense_Mutation_p.R13I|AGTR1_ENST00000542281.1_Missense_Mutation_p.R13I|AGTR1_ENST00000461609.1_Missense_Mutation_p.R13I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	13					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGTATTAAAAGAATCCAAGAT	0.343																																																	0													71	72	71					3																	148458860		2203	4300	6503	SO:0001583	missense	185			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.38G>T	3.37:g.148458860G>T	ENSP00000419422:p.Arg13Ile		Q13725|Q8TBK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor	p.R13I	ENST00000497524.1	37	c.38	CCDS3137.1	3	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727184	0.48833	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.33	5.33	0.75918	.	0.342982	0.30732	N	0.008991	T	0.44561	0.1299	L	0.27053	0.805	0.53688	D	0.999977	B	0.31519	0.327	B	0.21708	0.036	T	0.37842	-0.9688	10	0.38643	T	0.18	-17.0666	17.3758	0.87391	0.0:0.0:1.0:0.0	.	13	P30556	AGTR1_HUMAN	I	13	ENSP00000419422:R13I;ENSP00000273430:R13I;ENSP00000443186:R13I;ENSP00000398832:R13I;ENSP00000385612:R13I;ENSP00000419783:R13I;ENSP00000418084:R13I;ENSP00000418851:R13I;ENSP00000385641:R13I	ENSP00000273430:R13I	R	+	2	0	AGTR1	149941550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.633000	0.74286	2.766000	0.95052	0.650000	0.86243	AGA	AGTR1	-	prints_ATII_AT1_rcpt		0.343	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	HGNC	protein_coding	OTTHUMT00000355807.1	G			148458860	1	no_errors	ENST00000349243	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148458860	G	T	148458860	3	4	131	1	0	0	0	0	1	0	0	0	401	942	33	3	40	3	AGTR1	3	148458860	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5935970	148458860	49563570	455	20595										
P2RY13	53829	genome.wustl.edu	37	chr3	151046163	151046163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttttgcaataaccacataAaacacaagcattaggataaa	4	7	0	0	rs150366287		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151046163A>C	ENST00000325602.5	-	2	700	c.681T>G	c.(679-681)ttT>ttG	p.F227L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	227					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TAACCACATAAAACACAAGCA	0.353																																																	0								A	,LEU/PHE	0,4406		0,0,2203	67	73	71		,681	1.9	1	3	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	P2RY13,MED12L	NM_053002.4,NM_176894.2	,22	0,2,6501	CC,CA,AA		0.0233,0.0,0.0154	,possibly-damaging	,227/355	151046163	2,13004	2203	4300	6503	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.681T>G	3.37:g.151046163A>C	ENSP00000320376:p.Phe227Leu		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.F227L	ENST00000325602.5	37	c.681	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036599	0.54896	0.0	2.33E-4	ENSG00000181631	ENST00000325602	T	0.34667	1.35	5.64	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.048619	0.85682	D	0.000000	T	0.42177	0.1191	L	0.59436	1.845	0.37592	D	0.920207	P	0.34909	0.475	P	0.47251	0.542	T	0.41734	-0.9492	10	0.48119	T	0.1	-16.8146	8.1079	0.30896	0.6435:0.0:0.3565:0.0	.	227	Q9BPV8	P2Y13_HUMAN	L	227	ENSP00000320376:F227L	ENSP00000320376:F227L	F	-	3	2	P2RY13	152528853	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	0.930000	0.28858	0.369000	0.24510	0.456000	0.33151	TTT	P2RY13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.353	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	A	NM_023914		151046163	-1	no_errors	ENST00000325602	ensembl	human	known	70_37	missense	SNP	0.999	C	C	151046163	A	C	151046163	3	2	131	1	0	0	0	0	1	0	0	0	11374	11	1	5	387	5	P2RY13	3	151046163	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2587303	151046163	46976267	456	20596										
P2RY12	64805	genome.wustl.edu	37	chr3	151056222	151056222	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagaatcttagcccccaagaGatttttggggttggatgttt	12	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151056222G>T	ENST00000302632.3	-	3	711	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	138					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GCCCCCAAGAGATTTTTGGGG	0.423																																																	0													82	88	86					3																	151056222		2203	4300	6503	SO:0001583	missense	64805			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.412C>A	3.37:g.151056222G>T	ENSP00000307259:p.Leu138Ile		D3DNJ5|Q546J7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor,prints_UDPG_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L138I	ENST00000302632.3	37	c.412	CCDS3159.1	3	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116622	0.37339	.	.	ENSG00000169313	ENST00000302632	T	0.72394	-0.65	5.17	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.062168	0.64402	D	0.000003	T	0.57373	0.2049	L	0.27053	0.805	0.24018	N	0.996154	B	0.22480	0.07	B	0.25614	0.062	T	0.49624	-0.8920	10	0.35671	T	0.21	-32.2141	11.6934	0.51529	0.0:0.134:0.7268:0.1392	.	138	Q9H244	P2Y12_HUMAN	I	138	ENSP00000307259:L138I	ENSP00000307259:L138I	L	-	1	0	P2RY12	152538912	1.000000	0.71417	0.183000	0.23137	0.929000	0.56500	5.269000	0.65542	1.288000	0.44600	0.650000	0.86243	CTC	P2RY12	-	pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,pfscan_GPCR_Rhodpsn_7TM		0.423	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY12	HGNC	protein_coding	OTTHUMT00000357796.1	G			151056222	-1	no_errors	ENST00000302632	ensembl	human	known	70_37	missense	SNP	0.207	T	T	151056222	G	T	151056222	3	4	131	1	0	0	0	0	1	0	0	0	11373	942	33	3	620	3	P2RY12	3	151056222	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	10059	151056222	46966208	457	20597										
IGSF10	285313	genome.wustl.edu	37	chr3	151154914	151154914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caatatgtatttcccattaaTttgaggcctgtctactacat	5	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151154914T>G	ENST00000282466.3	-	6	7434	c.7435A>C	c.(7435-7437)Att>Ctt	p.I2479L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2479	Ig-like C2-type 11.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCCATTAATTTGAGGCCTG	0.388																																																	0													194	191	192					3																	151154914		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7435A>C	3.37:g.151154914T>G	ENSP00000282466:p.Ile2479Leu		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I2479L	ENST00000282466.3	37	c.7435	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	5.391	0.257411	0.10239	.	.	ENSG00000152580	ENST00000282466	T	0.66638	-0.22	5.3	-0.939	0.10408	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.204370	0.06041	N	0.654910	T	0.44623	0.1302	N	0.16368	0.405	0.09310	N	1	B;B	0.28178	0.202;0.021	B;B	0.27076	0.076;0.01	T	0.23440	-1.0188	10	0.07482	T	0.82	.	7.6166	0.28160	0.0:0.4387:0.1295:0.4318	.	2479;506	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	L	2479	ENSP00000282466:I2479L	ENSP00000282466:I2479L	I	-	1	0	IGSF10	152637604	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.269000	0.08596	-0.098000	0.12285	-0.256000	0.11100	ATT	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.388	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	T	NM_178822		151154914	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.000	G	G	151154914	T	G	151154914	3	3	131	1	0	0	0	0	1	0	0	0	7617	1493	52	5	440	5	IGSF10	3	151154914	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	98692	151154914	46867516	458	20598										
IGSF10	285313	genome.wustl.edu	37	chr3	151155421	151155421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcgggccacacagataaagtCggctgaatctgaaagcctca	10	11	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151155421C>T	ENST00000282466.3	-	6	6927	c.6928G>A	c.(6928-6930)Gac>Aac	p.D2310N	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2310	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATAAAGTCGGCTGAATCT	0.423																																																	0													136	131	132					3																	151155421		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6928G>A	3.37:g.151155421C>T	ENSP00000282466:p.Asp2310Asn		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D2310N	ENST00000282466.3	37	c.6928	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981375	0.74474	.	.	ENSG00000152580	ENST00000282466	T	0.66638	-0.22	5.77	3.97	0.46021	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.266778	0.26200	N	0.025743	T	0.66963	0.2843	N	0.21240	0.645	0.47341	D	0.999397	D;D	0.71674	0.998;0.971	D;P	0.65573	0.936;0.692	T	0.61422	-0.7066	10	0.22109	T	0.4	.	12.9341	0.58303	0.0:0.8671:0.0:0.1329	.	2310;337	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	N	2310	ENSP00000282466:D2310N	ENSP00000282466:D2310N	D	-	1	0	IGSF10	152638111	1.000000	0.71417	0.005000	0.12908	0.969000	0.65631	4.628000	0.61282	0.784000	0.33661	0.591000	0.81541	GAC	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151155421	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.973	T	T	151155421	C	T	151155421	3	4	131	1	0	0	0	0	1	0	0	0	7617	884	31	1	947	1	IGSF10	3	151155421	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	507	151155421	46867009	459	20599										
IGSF10	285313	genome.wustl.edu	37	chr3	151165248	151165248	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attcacaacaggagagaattCtgtgccataatttatgtttg	8	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151165248C>A	ENST00000282466.3	-	4	2520	c.2521G>T	c.(2521-2523)Gaa>Taa	p.E841*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	841					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAGAGAATTCTGTGCCATAA	0.408																																																	0													171	179	176					3																	151165248		2203	4300	6503	SO:0001587	stop_gained	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2521G>T	3.37:g.151165248C>A	ENSP00000282466:p.Glu841*		Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E841*	ENST00000282466.3	37	c.2521	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.945719	0.97134	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.31	0.183	0.15082	.	0.597682	0.14689	N	0.304254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	6.5141	0.22239	0.0:0.3914:0.3948:0.2139	.	.	.	.	X	841	.	ENSP00000282466:E841X	E	-	1	0	IGSF10	152647938	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	-0.325000	0.07976	-0.281000	0.09141	0.591000	0.81541	GAA	IGSF10	-	NULL		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151165248	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	nonsense	SNP	0.004	A	A	151165248	C	A	151165248	4	1	131	1	0	0	0	0	0	1	0	0	7617	922	32	3	5410	3	IGSF10	3	151165248	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9827	151165248	46857182	460	20600										
MME	4311	genome.wustl.edu	37	chr3	154866381	154866381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acttcgagaacataattcaaAatttgaaattcagccaaagt	5	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:154866381A>C	ENST00000460393.1	+	16	1660	c.1540A>C	c.(1540-1542)Aat>Cat	p.N514H	MME_ENST00000462745.1_Missense_Mutation_p.N514H|MME_ENST00000492661.1_Missense_Mutation_p.N514H|MME_ENST00000493237.1_Missense_Mutation_p.N514H|MME_ENST00000360490.2_Missense_Mutation_p.N514H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	514					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CATAATTCAAAATTTGAAATT	0.318																																																	0													69	79	76					3																	154866381		2203	4300	6503	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1540A>C	3.37:g.154866381A>C	ENSP00000418525:p.Asn514His		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.N514H	ENST00000460393.1	37	c.1540	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120533	0.77323	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.93	5.93	0.95920	.	0.050188	0.85682	D	0.000000	D	0.91543	0.7329	M	0.84082	2.675	0.53005	D	0.999963	D	0.89917	1.0	D	0.75484	0.986	D	0.91994	0.5605	10	0.52906	T	0.07	-37.8144	16.3766	0.83401	1.0:0.0:0.0:0.0	.	514	P08473	NEP_HUMAN	H	514	ENSP00000420389:N514H;ENSP00000418525:N514H;ENSP00000419653:N514H;ENSP00000417079:N514H;ENSP00000353679:N514H	ENSP00000353679:N514H	N	+	1	0	MME	156349075	1.000000	0.71417	0.993000	0.49108	0.823000	0.46562	8.158000	0.89649	2.263000	0.75096	0.533000	0.62120	AAT	MME	-	NULL		0.318	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	A	NM_000902		154866381	1	no_errors	ENST00000360490	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154866381	A	C	154866381	3	2	131	1	0	0	0	0	1	0	0	0	9668	14	1	5	1598	5	MME	3	154866381	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3701133	154866381	43156049	461	20601										
SI	6476	genome.wustl.edu	37	chr3	164714322	164714322	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaaatgtagtaattacataCtctagtatttgcaatgttgt	7	4	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:164714322C>A	ENST00000264382.3	-	40	4755		c.e40+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAATTACATACTCTAGTATTT	0.343										HNSCC(35;0.089)																																							0													77	76	76					3																	164714322		2203	4295	6498	SO:0001630	splice_region_variant	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4692+1G>T	3.37:g.164714322C>A			A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	-	e39+1	ENST00000264382.3	37	c.4692+1	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131148	0.37630	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7358	0.88392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166197016	1.000000	0.71417	0.921000	0.36526	0.129000	0.20672	3.302000	0.51849	2.599000	0.87857	0.585000	0.79938	.	SI	-	-		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041	Intron	164714322	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	splice_site	SNP	0.991	A	A	164714322	C	A	164714322	5	1	131	1	0	0	0	0	0	0	1	0	14327	579	20	4	826	4	SI	3	164714322	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9847941	164714322	33308108	462	20602										
SI	6476	genome.wustl.edu	37	chr3	164732962	164732962	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catttgacaaagacatcattCtgctgtcctctttcaaatgc	5	11	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:164732962C>A	ENST00000264382.3	-	33	4010	c.3948G>T	c.(3946-3948)caG>caT	p.Q1316H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1316	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGACATCATTCTGCTGTCCTC	0.308										HNSCC(35;0.089)																																							0													96	91	93					3																	164732962		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3948G>T	3.37:g.164732962C>A	ENSP00000264382:p.Gln1316His		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Q1316H	ENST00000264382.3	37	c.3948	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185247	0.21870	.	.	ENSG00000090402	ENST00000264382	D	0.92965	-3.14	5.35	-4.54	0.03452	Glycoside hydrolase, superfamily (1);	0.560850	0.19028	N	0.124633	D	0.90521	0.7030	L	0.49640	1.575	0.09310	N	1	P	0.41366	0.747	P	0.57009	0.811	D	0.83620	0.0139	10	0.51188	T	0.08	.	4.0298	0.09703	0.1733:0.2236:0.0852:0.5179	.	1316	P14410	SUIS_HUMAN	H	1316	ENSP00000264382:Q1316H	ENSP00000264382:Q1316H	Q	-	3	2	SI	166215656	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-1.600000	0.02083	-0.960000	0.03613	-0.186000	0.12905	CAG	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164732962	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.000	A	A	164732962	C	A	164732962	3	1	131	1	0	0	0	0	1	0	0	0	14327	912	32	3	1599	3	SI	3	164732962	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	18640	164732962	33289468	463	20603										
BCHE	590	genome.wustl.edu	37	chr3	165548614	165548614	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agactgtggctttttgaatcGaagtctaccaagaggtggct	12	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:165548614G>A	ENST00000264381.3	-	2	374	c.208C>T	c.(208-210)Cga>Tga	p.R70*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	70					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTTTTGAATCGAAGTCTACCA	0.423																																																	0													107	104	105					3																	165548614		2203	4300	6503	SO:0001587	stop_gained	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.208C>T	3.37:g.165548614G>A	ENSP00000264381:p.Arg70*		A8K7P8	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R70*	ENST00000264381.3	37	c.208	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.889332	0.97068	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.67	3.78	0.43462	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0748	0.59081	0.0:0.0:0.426:0.5739	.	.	.	.	X	70	.	ENSP00000264381:R70X	R	-	1	2	BCHE	167031308	0.081000	0.21417	1.000000	0.80357	0.976000	0.68499	0.285000	0.18883	0.663000	0.31027	0.655000	0.94253	CGA	BCHE	-	pfam_CarbesteraseB		0.423	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	G			165548614	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	nonsense	SNP	0.995	A	A	165548614	G	A	165548614	4	1	131	1	0	0	0	0	0	1	0	0	1359	1066	37	1	1612	1	BCHE	3	165548614	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	815652	165548614	32473816	464	20604										
SLC7A14	57709	genome.wustl.edu	37	chr3	170185087	170185087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtcgtagcgttggtacgtgCtttggtgcagggcctcttct	14	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:170185087C>A	ENST00000231706.5	-	8	2387	c.2072G>T	c.(2071-2073)aGc>aTc	p.S691I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	691					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTGGTACGTGCTTTGGTGCAG	0.587																																																	0													61	64	63					3																	170185087		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2072G>T	3.37:g.170185087C>A	ENSP00000231706:p.Ser691Ile		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.S691I	ENST00000231706.5	37	c.2072	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318453	0.81469	.	.	ENSG00000013293	ENST00000231706	D	0.88124	-2.34	5.69	5.69	0.88448	.	0.082659	0.85682	D	0.000000	D	0.89914	0.6853	L	0.27053	0.805	0.54753	D	0.999989	D	0.65815	0.995	D	0.72982	0.979	D	0.90212	0.4265	10	0.52906	T	0.07	.	19.8124	0.96553	0.0:1.0:0.0:0.0	.	691	Q8TBB6	S7A14_HUMAN	I	691	ENSP00000231706:S691I	ENSP00000231706:S691I	S	-	2	0	SLC7A14	171667781	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.568000	0.60857	2.701000	0.92244	0.655000	0.94253	AGC	SLC7A14	-	NULL		0.587	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170185087	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170185087	C	A	170185087	3	1	131	1	0	0	0	0	1	0	0	0	14726	797	28	4	247	4	SLC7A14	3	170185087	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4636473	170185087	27837343	465	20605										
TNIK	23043	genome.wustl.edu	37	chr3	170802051	170802051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgggtttacatttaccaccGaaatctttcttgcttcattg	6	9	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:170802051G>A	ENST00000436636.2	-	26	3406	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	TNIK_ENST00000538048.1_Missense_Mutation_p.S973L|TNIK_ENST00000284483.8_Missense_Mutation_p.S1013L|TNIK_ENST00000357327.5_Missense_Mutation_p.S992L|TNIK_ENST00000341852.6_Missense_Mutation_p.S937L|TNIK_ENST00000460047.1_Missense_Mutation_p.S958L|TNIK_ENST00000488470.1_Missense_Mutation_p.S966L|TNIK_ENST00000475336.1_Missense_Mutation_p.S929L|TNIK_ENST00000470834.1_Missense_Mutation_p.S984L|TNIK_ENST00000369326.5_Missense_Mutation_p.S999L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1021	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTTACCACCGAAATCTTTCT	0.398																																																	0													151	145	147					3																	170802051		1855	4103	5958	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3062C>T	3.37:g.170802051G>A	ENSP00000399511:p.Ser1021Leu		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S1021L	ENST00000436636.2	37	c.3062	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696872	0.88830	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.79845	-1.26;-1.26;-1.3;-1.29;-1.26;-1.28;-1.27;-1.31;-1.31;-1.27	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90920	0.7146	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.997;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.80764	0.964;0.926;0.964;0.964;0.994;0.946;0.964;0.959	D	0.91373	0.5121	10	0.87932	D	0	.	20.0765	0.97746	0.0:0.0:1.0:0.0	.	929;984;958;937;1013;992;966;1021	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	L	1021;999;973;937;1013;929;992;958;966;984	ENSP00000399511:S1021L;ENSP00000358332:S999L;ENSP00000443278:S973L;ENSP00000345352:S937L;ENSP00000284483:S1013L;ENSP00000418156:S929L;ENSP00000349880:S992L;ENSP00000418916:S958L;ENSP00000418378:S966L;ENSP00000419990:S984L	ENSP00000284483:S1013L	S	-	2	0	TNIK	172284745	1.000000	0.71417	0.991000	0.47740	0.510000	0.34073	9.416000	0.97383	2.809000	0.96659	0.650000	0.86243	TCG	TNIK	-	NULL		0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170802051	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170802051	G	A	170802051	3	1	131	1	0	0	0	0	1	0	0	0	16343	1059	37	1	1052	1	TNIK	3	170802051	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	616964	170802051	27220379	466	20606										
ECT2	1894	genome.wustl.edu	37	chr3	172472404	172472404	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgattctaaagttactgaGatttccaaggaaaacttact	6	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:172472404G>T	ENST00000392692.3	+	2	260	c.84G>T	c.(82-84)gaG>gaT	p.E28D	ECT2_ENST00000417960.1_Missense_Mutation_p.E28D|ECT2_ENST00000441497.2_Missense_Mutation_p.E28D|ECT2_ENST00000427830.1_Missense_Mutation_p.E28D|ECT2_ENST00000232458.5_Missense_Mutation_p.E28D|ECT2_ENST00000540509.1_Missense_Mutation_p.E28D	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	28					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGTTACTGAGATTTCCAAGG	0.318																																																	0													51	52	52					3																	172472404		2203	4295	6498	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.84G>T	3.37:g.172472404G>T	ENSP00000376457:p.Glu28Asp		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.E28D	ENST00000392692.3	37	c.84	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393292	0.62066	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.25;-0.85;-1.36;-1.26;0.04;0.24;0.12;0.07;0.22;-1.25;-0.85	5.46	1.55	0.23275	.	0.103353	0.64402	N	0.000004	T	0.80347	0.4606	L	0.34521	1.04	0.47659	D	0.999488	D;D;D;D	0.89917	0.998;0.998;1.0;0.996	D;D;D;D	0.80764	0.986;0.994;0.973;0.936	T	0.76206	-0.3044	10	0.62326	D	0.03	-9.9804	5.2358	0.15445	0.5623:0.2872:0.1505:0.0	.	28;28;28;28	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	D	28	ENSP00000232458:E28D;ENSP00000376457:E28D;ENSP00000401910:E28D;ENSP00000415876:E28D;ENSP00000403501:E28D;ENSP00000412331:E28D;ENSP00000403446:E28D;ENSP00000412028:E28D;ENSP00000389108:E28D;ENSP00000412259:E28D;ENSP00000443160:E28D	ENSP00000232458:E28D	E	+	3	2	ECT2	173955098	1.000000	0.71417	0.849000	0.33467	0.695000	0.40330	1.762000	0.38451	0.017000	0.15025	-0.350000	0.07774	GAG	ECT2	-	NULL		0.318	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	G	NM_018098		172472404	1	no_errors	ENST00000427830	ensembl	human	known	70_37	missense	SNP	0.991	T	T	172472404	G	T	172472404	3	4	131	1	0	0	0	0	1	0	0	0	4911	933	33	3	86	3	ECT2	3	172472404	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1670353	172472404	25550026	467	20607										
NAALADL2	254827	genome.wustl.edu	37	chr3	174577206	174577206	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaaataataaaatgggagaGaatgaagcaagtttacctaa	9	3	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:174577206G>T	ENST00000454872.1	+	1	137	c.9G>T	c.(7-9)gaG>gaT	p.E3D		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	3						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAATGGGAGAGAATGAAGCAA	0.373																																																	0													88	87	87					3																	174577206		1870	4088	5958	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.9G>T	3.37:g.174577206G>T	ENSP00000404705:p.Glu3Asp		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.E3D	ENST00000454872.1	37	c.9	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292328	0.40594	.	.	ENSG00000177694	ENST00000454872	T	0.34275	1.37	5.85	4.05	0.47172	.	.	.	.	.	T	0.37489	0.1005	N	0.08118	0	0.22541	N	0.999003	D	0.76494	0.999	D	0.78314	0.991	T	0.18241	-1.0343	9	0.87932	D	0	.	9.4257	0.38578	0.2156:0.0:0.7844:0.0	.	3	Q58DX5	NADL2_HUMAN	D	3	ENSP00000404705:E3D	ENSP00000404705:E3D	E	+	3	2	NAALADL2	176059900	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	3.791000	0.55469	1.628000	0.50416	-0.148000	0.13756	GAG	NAALADL2	-	NULL		0.373	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	G	NM_207015		174577206	1	no_errors	ENST00000454872	ensembl	human	known	70_37	missense	SNP	1.000	T	T	174577206	G	T	174577206	3	4	131	1	0	0	0	0	1	0	0	0	10153	933	33	3	11	3	NAALADL2	3	174577206	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2104802	174577206	23445224	468	20608										
TBL1XR1	79718	genome.wustl.edu	37	chr3	176750766	176750766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgaagacatacctgcgtgTtccagatgtgtacacatttg	9	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:176750766T>G	ENST00000430069.1	-	14	1668	c.1409A>C	c.(1408-1410)aAc>aCc	p.N470T	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.N470T			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	470					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TACCTGCGTGTTCCAGATGTG	0.418																																																	0													89	85	86					3																	176750766		1915	4148	6063	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1409A>C	3.37:g.176750766T>G	ENSP00000405574:p.Asn470Thr		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N470T	ENST00000430069.1	37	c.1409	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959334	0.74016	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.61274	0.12;0.12	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	L	0.38649	1.16	0.80722	D	1	B	0.26547	0.152	B	0.36766	0.232	T	0.57510	-0.7799	10	0.72032	D	0.01	-6.8039	15.0783	0.72093	0.0:0.0:0.0:1.0	.	470	Q9BZK7	TBL1R_HUMAN	T	470;470;332	ENSP00000405574:N470T;ENSP00000413251:N470T	ENSP00000405574:N470T	N	-	2	0	TBL1XR1	178233460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.153000	0.67306	0.533000	0.62120	AAC	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.418	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	T	NM_024665		176750766	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176750766	T	G	176750766	3	3	131	1	0	0	0	0	1	0	0	0	15670	1725	60	5	147	5	TBL1XR1	3	176750766	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2173560	176750766	21271664	469	20609										
TBL1XR1	79718	genome.wustl.edu	37	chr3	176763937	176763937	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgaatgaaaaggaaactgtTgcttggcttcaccagtatgt	10	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:176763937T>G	ENST00000430069.1	-	10	1164	c.905A>C	c.(904-906)cAa>cCa	p.Q302P	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q302P|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	302					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAAACTGTTGCTTGGCTTC	0.303																																																	0													26	25	26					3																	176763937		1817	4066	5883	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.905A>C	3.37:g.176763937T>G	ENSP00000405574:p.Gln302Pro		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q302P	ENST00000430069.1	37	c.905	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542373	0.85917	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.81579	-1.51;-1.51	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.92627	0.6113	10	0.87932	D	0	-1.1468	15.5609	0.76244	0.0:0.0:0.0:1.0	.	302	Q9BZK7	TBL1R_HUMAN	P	302;302;164	ENSP00000405574:Q302P;ENSP00000413251:Q302P	ENSP00000405574:Q302P	Q	-	2	0	TBL1XR1	178246631	1.000000	0.71417	0.967000	0.41034	0.874000	0.50279	7.638000	0.83328	2.271000	0.75665	0.533000	0.62120	CAA	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.303	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	T	NM_024665		176763937	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	0.999	G	G	176763937	T	G	176763937	3	3	131	1	0	0	0	0	1	0	0	0	15670	1812	63	5	667	5	TBL1XR1	3	176763937	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	13171	176763937	21258493	470	20610										
PIK3CA	5290	genome.wustl.edu	37	chr3	178921533	178921533	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgcactcagaataaaaattCtttgtgcaacctacgtgaat	7	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:178921533C>A	ENST00000263967.3	+	5	1172	c.1015C>A	c.(1015-1017)Ctt>Att	p.L339I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	339	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.L339F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATAAAAATTCTTTGTGCAAC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1	Substitution - Missense(1)	oesophagus(1)											75	75	75					3																	178921533		1821	4073	5894	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1015C>A	3.37:g.178921533C>A	ENSP00000263967:p.Leu339Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L339I	ENST00000263967.3	37	c.1015	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708153	0.48412	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.41632	1.29	0.80722	D	1	P	0.36027	0.533	B	0.27076	0.076	T	0.58482	-0.7629	10	0.13853	T	0.58	-12.9603	19.4856	0.95027	0.0:1.0:0.0:0.0	.	339	P42336	PK3CA_HUMAN	I	339	ENSP00000263967:L339I	ENSP00000263967:L339I	L	+	1	0	PIK3CA	180404227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.688000	0.68227	2.666000	0.90696	0.467000	0.42956	CTT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	C			178921533	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178921533	C	A	178921533	3	1	131	1	0	0	0	0	1	0	0	0	11937	913	32	3	1029	3	PIK3CA	3	178921533	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2157596	178921533	19100897	471	20611										
PEX5L	51555	genome.wustl.edu	37	chr3	179593175	179593175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgatccagttctagatgagGatgattttctctctgccatt	8	8	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:179593175G>A	ENST00000467460.1	-	6	926	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000472994.1_Missense_Mutation_p.S140F|PEX5L_ENST00000468741.1_Missense_Mutation_p.S7F|PEX5L_ENST00000464614.1_Missense_Mutation_p.S91F|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.S91F|PEX5L_ENST00000476138.1_Missense_Mutation_p.S156F|PEX5L_ENST00000485199.1_Missense_Mutation_p.S164F|PEX5L_ENST00000263962.8_Missense_Mutation_p.S197F|PEX5L_ENST00000465751.1_Missense_Mutation_p.S175F	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	199					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTAGATGAGGATGATTTTCT	0.378																																																	0													210	185	193					3																	179593175		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.596C>T	3.37:g.179593175G>A	ENSP00000419975:p.Ser199Phe		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S199F	ENST00000467460.1	37	c.596	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670900	0.47781	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.53;-2.49;-2.35;-2.54;-2.54;-2.49;-2.55	5.88	4.07	0.47477	.	0.502419	0.23541	N	0.047080	D	0.83580	0.5285	N	0.19112	0.55	0.23607	N	0.997308	B;B;B;B;B;B	0.29590	0.012;0.012;0.104;0.25;0.053;0.052	B;B;B;B;B;B	0.37091	0.023;0.023;0.037;0.241;0.073;0.033	T	0.77830	-0.2442	10	0.59425	D	0.04	-3.5812	13.7757	0.63053	0.0:0.5041:0.4959:0.0	.	140;175;91;197;164;199	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	F	199;197;164;197;91;7;156;87;140;91;175;7;7;188	ENSP00000419975:S199F;ENSP00000263962:S197F;ENSP00000418440:S164F;ENSP00000376420:S91F;ENSP00000418665:S7F;ENSP00000420555:S156F;ENSP00000418054:S140F;ENSP00000417270:S91F;ENSP00000419348:S175F	ENSP00000263962:S197F	S	-	2	0	PEX5L	181075869	0.991000	0.36638	0.993000	0.49108	0.947000	0.59692	1.866000	0.39489	1.503000	0.48686	-0.139000	0.14373	TCC	PEX5L	-	NULL		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	G	NM_016559		179593175	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	0.976	A	A	179593175	G	A	179593175	3	1	131	1	0	0	0	0	1	0	0	0	11773	1174	41	1	1324	1	PEX5L	3	179593175	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	671642	179593175	18429255	472	20612										
ATP11B	23200	genome.wustl.edu	37	chr3	182575668	182575668	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctttttcttccttaaggtCaatgaatacatttttgataa	4	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:182575668C>A	ENST00000323116.5	+	11	1114	c.854C>A	c.(853-855)tCa>tAa	p.S285*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	285					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCCTTAAGGTCAATGAATACA	0.274																																																	0													43	47	45					3																	182575668		2200	4296	6496	SO:0001587	stop_gained	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.854C>A	3.37:g.182575668C>A	ENSP00000321195:p.Ser285*		Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S285*	ENST00000323116.5	37	c.854	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.522116|5.522116	0.96416|0.96416	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.74906|.	0.3778|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71580|.	-0.4550|.	4|.	.|0.35671	.|T	.|0.21	.|.	19.6183|19.6183	0.95645|0.95645	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	86|285	.|.	.|ENSP00000321195:S285X	Q|S	+|+	1|2	0|0	ATP11B|ATP11B	184058362|184058362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.009000|0.009000	0.06853|0.06853	5.681000|5.681000	0.68175|0.68175	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	CAA|TCA	ATP11B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.274	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	C	NM_014616		182575668	1	no_errors	ENST00000323116	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	182575668	C	A	182575668	4	1	131	1	0	0	0	0	0	1	0	0	1121	838	29	3	896	3	ATP11B	3	182575668	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2982493	182575668	15446762	473	20613										
MCF2L2	23101	genome.wustl.edu	37	chr3	182933869	182933869	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaatgctgaatctttggttCtctttggcccatcctgtgga	10	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:182933869C>A	ENST00000328913.3	-	22	2681	c.2384G>T	c.(2383-2385)aGa>aTa	p.R795I	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R795I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	795	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATCTTTGGTTCTCTTTGGCCC	0.448																																																	0													239	213	222					3																	182933869		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2384G>T	3.37:g.182933869C>A	ENSP00000328118:p.Arg795Ile		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R795I	ENST00000328913.3	37	c.2384	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986357	0.35036	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.41758	0.99;0.99	4.29	0.391	0.16282	Dbl homology (DH) domain (4);	0.110880	0.56097	D	0.000030	T	0.26846	0.0657	L	0.39898	1.24	0.58432	D	0.999995	B	0.30068	0.267	B	0.27380	0.079	T	0.05435	-1.0885	10	0.72032	D	0.01	.	3.4363	0.07446	0.1778:0.5235:0.0:0.2987	.	795	Q86YR7	MF2L2_HUMAN	I	795	ENSP00000328118:R795I;ENSP00000420070:R795I	ENSP00000328118:R795I	R	-	2	0	MCF2L2	184416563	0.745000	0.28261	0.702000	0.30337	0.502000	0.33828	-0.257000	0.08745	-0.037000	0.13646	-0.136000	0.14681	AGA	MCF2L2	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		182933869	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	0.858	A	A	182933869	C	A	182933869	3	1	131	1	0	0	0	0	1	0	0	0	9403	913	32	3	996	3	MCF2L2	3	182933869	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	358201	182933869	15088561	474	20614										
HTR3C	170572	genome.wustl.edu	37	chr3	183772526	183772526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taggaagaggcgacgcttttAccatcaattgctcaggcttt	10	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:183772526A>C	ENST00000318351.1	+	2	119	c.85A>C	c.(85-87)Acc>Ccc	p.T29P		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	29					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CGACGCTTTTACCATCAATTG	0.507																																																	0													122	116	118					3																	183772526		2203	4300	6503	SO:0001583	missense	170572			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.85A>C	3.37:g.183772526A>C	ENSP00000322617:p.Thr29Pro		A2RRR5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.T29P	ENST00000318351.1	37	c.85	CCDS3250.1	3	.	.	.	.	.	.	.	.	.	.	.	14.86	2.662029	0.47572	.	.	ENSG00000178084	ENST00000318351	T	0.80393	-1.37	4.43	4.43	0.53597	.	0.169485	0.38778	N	0.001575	D	0.86070	0.5845	M	0.69823	2.125	0.09310	N	0.999995	D	0.65815	0.995	D	0.64042	0.921	T	0.77606	-0.2525	10	0.45353	T	0.12	-15.0592	10.0042	0.41946	1.0:0.0:0.0:0.0	.	29	Q8WXA8	5HT3C_HUMAN	P	29	ENSP00000322617:T29P	ENSP00000322617:T29P	T	+	1	0	HTR3C	185255220	1.000000	0.71417	0.685000	0.30070	0.719000	0.41307	1.887000	0.39698	1.861000	0.53984	0.459000	0.35465	ACC	HTR3C	-	NULL		0.507	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	A	NM_130770		183772526	1	no_errors	ENST00000318351	ensembl	human	known	70_37	missense	SNP	0.588	C	C	183772526	A	C	183772526	3	2	131	1	0	0	0	0	1	0	0	0	7466	391	14	5	91	5	HTR3C	3	183772526	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	838657	183772526	14249904	475	20615										
EIF4G1	1981	genome.wustl.edu	37	chr3	184043121	184043121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaaaagaagacgtcatcccGcatccgctttatgctgcagg	10	11	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:184043121G>A	ENST00000346169.2	+	19	3192	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	EIF4G1_ENST00000382330.3_Missense_Mutation_p.R981H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R779H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R810H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R934H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R887H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R981H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R811H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R778H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R974H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R981H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R975H|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R935H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R888H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	974	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTCATCCCGCATCCGCTTT	0.527																																																	0													110	108	109					3																	184043121		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2921G>A	3.37:g.184043121G>A	ENSP00000316879:p.Arg974His		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R981H	ENST00000346169.2	37	c.2942	CCDS3259.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.134425|5.134425	0.94517|0.94517	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000448284|ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.34667	.|1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.53|5.53	5.53|5.53	0.82687|0.82687	.|MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74023|0.74023	0.3662|0.3662	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.998;0.987;0.994;0.994	.|P;P;P;P	.|0.62184	.|0.899;0.846;0.846;0.846	D|D	0.84694|0.84694	0.0724|0.0724	5|10	.|0.87932	.|D	.|0	-8.7426|-8.7426	19.453|19.453	0.94875|0.94875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|981;975;974;981	.|E9PFM1;D3DNT2;Q04637;B2RU10	.|.;.;IF4G1_HUMAN;.	T|H	26|974;934;887;981;810;981;888;975;974;981;935;811;779;778	.|ENSP00000316879:R974H;ENSP00000391935:R934H;ENSP00000376320:R887H;ENSP00000371767:R981H;ENSP00000317600:R810H;ENSP00000338020:R981H;ENSP00000407682:R888H;ENSP00000343450:R975H;ENSP00000323737:R974H;ENSP00000416255:R981H;ENSP00000395974:R935H;ENSP00000399858:R811H;ENSP00000411826:R779H;ENSP00000404754:R778H	.|ENSP00000323737:R974H	A|R	+|+	1|2	0|0	EIF4G1|EIF4G1	185525815|185525815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	9.665000|9.665000	0.98609|0.98609	2.613000|2.613000	0.88420|0.88420	0.555000|0.555000	0.69702|0.69702	GCA|CGC	EIF4G1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.527	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	G	NM_182917		184043121	1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184043121	G	A	184043121	3	1	131	1	0	0	0	0	1	0	0	0	5048	1087	38	2	2987	2	EIF4G1	3	184043121	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	270595	184043121	13979309	476	20616										
POLR2H	5437	genome.wustl.edu	37	chr3	184082932	184082932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattttcaggtgacaagtttCggttggtcatagctagtacc	10	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:184082932C>T	ENST00000456318.1	+	4	1218	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	POLR2H_ENST00000438240.1_Missense_Mutation_p.R21W|POLR2H_ENST00000430783.1_Missense_Mutation_p.R57W|POLR2H_ENST00000429568.1_Missense_Mutation_p.R57W|POLR2H_ENST00000296223.3_Missense_Mutation_p.R57W|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Missense_Mutation_p.R21W|POLR2H_ENST00000452961.1_Missense_Mutation_p.R21W	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	57					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAAGTTTCGGTTGGTCAT	0.418																																																	0													202	186	191					3																	184082932		2203	4300	6503	SO:0001583	missense	5437				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.169C>T	3.37:g.184082932C>T	ENSP00000392913:p.Arg57Trp		C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	p.R57W	ENST00000456318.1	37	c.169	CCDS3264.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390982	0.82902	.	.	ENSG00000163882	ENST00000456318;ENST00000438240;ENST00000455712;ENST00000430783;ENST00000443489;ENST00000452961;ENST00000296223;ENST00000429568	.	.	.	5.48	5.48	0.80851	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86939	0.2078	9	0.66056	D	0.02	-15.6116	17.2127	0.86935	0.0:1.0:0.0:0.0	.	57	P52434	RPAB3_HUMAN	W	57;21;57;57;21;21;57;57	.	ENSP00000296223:R57W	R	+	1	2	POLR2H	185565626	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.537000	0.53590	2.730000	0.93505	0.655000	0.94253	CGG	POLR2H	-	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8		0.418	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	C	NM_006232		184082932	1	no_errors	ENST00000296223	ensembl	human	known	70_37	missense	SNP	1.000	T	T	184082932	C	T	184082932	3	4	131	1	0	0	0	0	1	0	0	0	12245	875	31	1	179	1	POLR2H	3	184082932	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	39811	184082932	13939498	477	20617										
LIPH	200879	genome.wustl.edu	37	chr3	185232243	185232243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccagctttgtctctcaatTtgatggtaatgtcccctctt	6	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:185232243T>G	ENST00000296252.4	-	8	1190	c.1049A>C	c.(1048-1050)aAa>aCa	p.K350T	LIPH_ENST00000424591.2_Missense_Mutation_p.K316T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	350					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTCTCTCAATTTGATGGTAAT	0.378																																																	0													328	281	297					3																	185232243		2203	4299	6502	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1049A>C	3.37:g.185232243T>G	ENSP00000296252:p.Lys350Thr		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.K350T	ENST00000296252.4	37	c.1049	CCDS3272.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.369248|2.369248	0.42003|0.42003	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.88664|.	-2.41;-2.19|.	4.87|4.87	2.49|2.49	0.30216|0.30216	.|.	0.175280|.	0.64402|.	D|.	0.000013|.	T|T	0.61451|0.61451	0.2348|0.2348	M|M	0.76328|0.76328	2.33|2.33	0.37589|0.37589	D|D	0.92012|0.92012	D;D|.	0.65815|.	0.995;0.991|.	P;P|.	0.59546|.	0.859;0.855|.	T|T	0.60591|0.60591	-0.7233|-0.7233	10|5	0.37606|.	T|.	0.19|.	-17.4026|-17.4026	4.4172|4.4172	0.11463|0.11463	0.1464:0.1676:0.0:0.686|0.1464:0.1676:0.0:0.686	.|.	316;350|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	T|H	350;316|28	ENSP00000296252:K350T;ENSP00000396384:K316T|.	ENSP00000296252:K350T|.	K|N	-|-	2|1	0|0	LIPH|LIPH	186714937|186714937	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.963000|0.963000	0.63663|0.63663	2.603000|2.603000	0.46266|0.46266	0.360000|0.360000	0.24265|0.24265	0.379000|0.379000	0.24179|0.24179	AAA|AAT	LIPH	-	superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.378	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	T			185232243	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	missense	SNP	0.983	G	G	185232243	T	G	185232243	3	3	131	1	0	0	0	0	1	0	0	0	8845	1841	64	5	318	5	LIPH	3	185232243	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1149311	185232243	12790187	478	20618										
ADIPOQ	9370	genome.wustl.edu	37	chr3	186570919	186570919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggaaaccacgactcaaggGcccggagtcctgcttcccct	10	16	1	0	rs201945112		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:186570919G>A	ENST00000412955.2	+	2	213	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ADIPOQ_ENST00000444204.2_Silent_p.G24G|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.G24G			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	24					adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CGACTCAAGGGCCCGGAGTCC	0.627																																																	0													71	69	69					3																	186570919		2203	4300	6503	SO:0001819	synonymous_variant	9370			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"Endogenous ligands"	13633	protein-coding gene	gene with protein product	"adipose most abundant gene transcript 1", "adiponectin precursor"	605441	"adipocyte, C1Q and collagen domain containing"	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.72G>A	3.37:g.186570919G>A			Q58EX9	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G24	ENST00000412955.2	37	c.72	CCDS3284.1	3																																																																																			ADIPOQ	-	NULL		0.627	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOQ	HGNC	protein_coding	OTTHUMT00000344490.2	G	NM_004797		186570919	1	no_errors	ENST00000320741	ensembl	human	known	70_37	silent	SNP	0.000	A	A	186570919	G	A	186570919	2	1	131	1	0	0	0	0	0	0	0	1	317	1190	42	4		4	ADIPOQ	3	186570919	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1338676	186570919	11451511	479	20619										
LEPREL1	55214	genome.wustl.edu	37	chr3	189706770	189706770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggagagaggcggccagggCgggtggcaagttccctcaca	18	10	1	1	rs377087463		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:189706770C>T	ENST00000319332.5	-	4	1078	c.881G>A	c.(880-882)cGc>cAc	p.R294H	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R113H	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	294					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCGGCCAGGGCGGGTGGCAAG	0.502																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	104	90	95		338,881	5.6	1	3		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LEPREL1	NM_001134418.1,NM_018192.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	113/528,294/709	189706770	1,13005	2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.881G>A	3.37:g.189706770C>T	ENSP00000316881:p.Arg294His		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R294H	ENST00000319332.5	37	c.881	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472269	0.84533	0.0	1.16E-4	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.61	5.61	0.85477	.	0.052262	0.85682	D	0.000000	T	0.54838	0.1883	L	0.38531	1.155	0.80722	D	1	P	0.36909	0.573	B	0.26693	0.072	T	0.53968	-0.8363	9	.	.	.	-16.235	18.9929	0.92801	0.0:1.0:0.0:0.0	.	294	Q8IVL5	P3H2_HUMAN	H	294;113;113;113	ENSP00000316881:R294H;ENSP00000408947:R113H;ENSP00000391374:R113H;ENSP00000394326:R113H	.	R	-	2	0	LEPREL1	191189464	0.993000	0.37304	0.986000	0.45419	0.903000	0.53119	3.621000	0.54210	2.799000	0.96334	0.650000	0.86243	CGC	LEPREL1	-	NULL		0.502	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189706770	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	0.999	T	T	189706770	C	T	189706770	3	4	131	1	0	0	0	0	1	0	0	0	8750	768	27	2	1293	2	LEPREL1	3	189706770	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3135851	189706770	8315660	480	20620										
ATP13A5	344905	genome.wustl.edu	37	chr3	193081925	193081925	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcaaaacagtgtctgcttCttgcaaggggcatgggatgc	13	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:193081925C>A	ENST00000342358.4	-	2	325	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	70						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGTCTGCTTCTTGCAAGGGG	0.527																																																	0													163	154	157					3																	193081925		2203	4300	6503	SO:0001587	stop_gained	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.208G>T	3.37:g.193081925C>A	ENSP00000341942:p.Glu70*		Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E70*	ENST00000342358.4	37	c.208	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962074	0.92791	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-19.7537	17.4913	0.87704	0.0:1.0:0.0:0.0	.	.	.	.	X	70;92	.	ENSP00000341942:E70X	E	-	1	0	ATP13A5	194564619	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	5.054000	0.64275	2.822000	0.97130	0.650000	0.86243	GAA	ATP13A5	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.527	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	C	NM_198505		193081925	-1	no_errors	ENST00000342358	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	193081925	C	A	193081925	4	1	131	1	0	0	0	0	0	1	0	0	1128	922	32	3	3562	3	ATP13A5	3	193081925	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3375155	193081925	4940505	481	20621										
ATP13A4	84239	genome.wustl.edu	37	chr3	193171950	193171950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtaggccagtgctatgactCggaagccctgtgtcgtgtaa	13	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:193171950C>T	ENST00000342695.4	-	17	2289	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R637Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	656						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGCTATGACTCGGAAGCCCTG	0.433																																																	0													147	125	133					3																	193171950		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1967G>A	3.37:g.193171950C>T	ENSP00000339182:p.Arg656Gln		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.R656Q	ENST00000342695.4	37	c.1967	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	35	5.454441	0.96223	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000005	D	0.96978	0.9013	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.989;0.995	D	0.98208	1.0471	10	0.87932	D	0	-22.6714	18.3732	0.90420	0.0:1.0:0.0:0.0	.	637;656;656	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Q	637;656	ENSP00000376238:R637Q;ENSP00000339182:R656Q	ENSP00000339182:R656Q	R	-	2	0	ATP13A4	194654644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.617000	0.67716	2.941000	0.99782	0.655000	0.94253	CGA	ATP13A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr		0.433	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	C	NM_032279		193171950	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	1.000	T	T	193171950	C	T	193171950	3	4	131	1	0	0	0	0	1	0	0	0	1127	884	31	1	1679	1	ATP13A4	3	193171950	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	90025	193171950	4850480	482	20622										
FBXO45	200933	genome.wustl.edu	37	chr3	196311048	196311048	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggacatggaagataagacTttagcttttgaacgtggata	11	4	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:196311048T>A	ENST00000311630.6	+	3	1017	c.720T>A	c.(718-720)acT>acA	p.T240T	FBXO45_ENST00000440469.1_Silent_p.T61T	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	240	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AAGATAAGACTTTAGCTTTTG	0.418																																																	0													137	131	133					3																	196311048		1840	4088	5928	SO:0001819	synonymous_variant	200933			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.720T>A	3.37:g.196311048T>A			A6NF90|D3DXB5	Silent	SNP	pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like	p.T240	ENST00000311630.6	37	c.720	CCDS46985.1	3																																																																																			FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.418	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	T			196311048	1	no_errors	ENST00000311630	ensembl	human	known	70_37	silent	SNP	0.998	A	A	196311048	T	A	196311048	2	1	131	1	0	0	0	0	0	0	0	1	5772	1596	56	5		5	FBXO45	3	196311048	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3139098	196311048	1711382	483	20623										
IQCG	84223	genome.wustl.edu	37	chr3	197618337	197618337	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttataacgctctttaattCcaagagatcctgttttacct	4	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:197618337C>A	ENST00000265239.6	-	11	1601	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	IQCG_ENST00000455191.1_Nonsense_Mutation_p.E393*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	393	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTCTTTAATTCCAAGAGATCC	0.373																																																	0													241	234	236					3																	197618337		2203	4299	6502	SO:0001587	stop_gained	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1177G>T	3.37:g.197618337C>A	ENSP00000265239:p.Glu393*		Q9BST2|Q9HAG8	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E393*	ENST00000265239.6	37	c.1177	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.938124	0.97948	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	.	.	.	5.35	4.48	0.54585	.	0.190105	0.44688	D	0.000439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.1375	14.1455	0.65349	0.0:0.9266:0.0:0.0734	.	.	.	.	X	393	.	ENSP00000265239:E393X	E	-	1	0	IQCG	199102734	1.000000	0.71417	0.659000	0.29680	0.627000	0.37826	3.653000	0.54446	1.400000	0.46741	0.650000	0.86243	GAA	IQCG	-	pfscan_IQ_motif_EF-hand-BS		0.373	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	C	NM_032263		197618337	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	nonsense	SNP	0.992	A	A	197618337	C	A	197618337	4	1	131	1	0	0	0	0	0	1	0	0	7830	864	30	3	162	3	IQCG	3	197618337	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1307289	197618337	404093	484	20624										
ZNF595	152687	genome.wustl.edu	37	chr4	85884	85884	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttcaaattcaaacaaacaTaagataagacatactggaga	5	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85884T>C	ENST00000339368.6	+	0	693							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAAACAAACATAAGATAAGAC	0.333																																																	0													32	34	33					4																	85884		2015	4194	6209	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*690T>C	4.37:g.85884T>C				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.333	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	T	NM_182524		85884	1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	SNP	0.348	C	C	85884	T	C	85884	1	2	131	0	1	0	0	0	0	0	0	0	18055	1403	49	5		5	ZNF595	4	85884	3'UTR	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09		85884	191068392	485	20625										
ZNF732	654254	genome.wustl.edu	37	chr4	265510	265510	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtatgaatactcttatgtTtattaagggttgcggattgt	10	4	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:265510T>G	ENST00000419098.1	-	4	1146	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						ACTCTTATGTTTATTAAGGGT	0.383																																																	0													60	54	56					4																	265510		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1136A>C	4.37:g.265510T>G	ENSP00000415774:p.Lys379Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K379T	ENST00000419098.1	37	c.1136	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	T	0	-2.629979	0.00115	.	.	ENSG00000186777	ENST00000419098	T	0.07567	3.18	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.37850	1.14	0.09310	N	1	P	0.36183	0.542	B	0.38755	0.281	T	0.34875	-0.9811	9	0.10636	T	0.68	.	3.7266	0.08477	0.0:0.0:0.4015:0.5985	.	379	B4DXR9	ZN732_HUMAN	T	379	ENSP00000415774:K379T	ENSP00000415774:K379T	K	-	2	0	ZNF732	255510	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-3.446000	0.00468	0.338000	0.23692	0.329000	0.21502	AAA	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	T	NM_001137608		265510	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	missense	SNP	0.013	G	G	265510	T	G	265510	3	3	131	1	0	0	0	0	1	0	0	0	18153	1841	64	5	625	5	ZNF732	4	265510	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	179626	265510	190888766	486	20626										
TMEM175	84286	genome.wustl.edu	37	chr4	946159	946159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttttgttttaacagttttCgttaatggtgaccttccctg	8	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:946159C>T	ENST00000264771.4	+	7	568	c.383C>T	c.(382-384)tCg>tTg	p.S128L	TMEM175_ENST00000508204.1_Missense_Mutation_p.S46L|TMEM175_ENST00000515740.1_Missense_Mutation_p.S12L|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	128						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S128L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAACAGTTTTCGTTAATGGTG	0.562																																																	1	Substitution - Missense(1)	pancreas(1)											161	143	149					4																	946159		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.383C>T	4.37:g.946159C>T	ENSP00000264771:p.Ser128Leu		D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.S128L	ENST00000264771.4	37	c.383	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	c	14.07	2.424342	0.43020	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493;ENST00000514546	T;T;T;T;T;T	0.52983	1.26;0.7;1.07;1.29;0.64;0.78	4.86	4.86	0.63082	.	0.067712	0.64402	D	0.000009	T	0.48943	0.1528	M	0.65498	2.005	0.53688	D	0.999979	P;P;D	0.54047	0.72;0.72;0.964	B;B;B	0.43225	0.059;0.095;0.412	T	0.58120	-0.7692	10	0.72032	D	0.01	-9.281	13.4697	0.61276	0.0:1.0:0.0:0.0	.	46;128;46	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	L	128;115;46;46;34;12;46;46;128	ENSP00000264771:S128L;ENSP00000425181:S115L;ENSP00000421750:S34L;ENSP00000427039:S12L;ENSP00000423669:S46L;ENSP00000425763:S128L	ENSP00000264771:S128L	S	+	2	0	TMEM175	936159	1.000000	0.71417	0.936000	0.37596	0.332000	0.28634	6.289000	0.72696	2.232000	0.73038	0.478000	0.44815	TCG	TMEM175	-	NULL		0.562	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	C	NM_032326		946159	1	no_errors	ENST00000264771	ensembl	human	known	70_37	missense	SNP	1.000	T	T	946159	C	T	946159	3	4	131	1	0	0	0	0	1	0	0	0	16121	893	31	1	405	1	TMEM175	4	946159	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	680649	946159	190208117	487	20627										
POLN	353497	genome.wustl.edu	37	chr4	2176478	2176478	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagttgccataaaccataatCctgtttaataggaagaaata	6	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:2176478C>A	ENST00000511885.2	-	10	1602	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Splice_Site_p.D417Y			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	417					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAACCATAATCCTGTTTAATA	0.313								DNA polymerases (catalytic subunits)																																									0													54	60	58					4																	2176478		2203	4300	6503	SO:0001630	splice_region_variant	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1249-1G>T	4.37:g.2176478C>A			A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.D417Y	ENST00000511885.2	37	c.1249	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.626956|1.626956	0.28978|0.28978	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.06294|.	3.32;3.32|.	5.64|5.64	4.81|4.81	0.61882|0.61882	.|.	1.156050|.	0.06136|.	N|.	0.671578|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.29908|0.29908	0.895|0.895	0.24812|0.24812	N|N	0.992633|0.992633	P;B;B|.	0.36171|.	0.541;0.104;0.128|.	B;B;B|.	0.32022|.	0.116;0.044;0.139|.	T|T	0.21861|0.21861	-1.0233|-1.0233	10|5	0.72032|.	D|.	0.01|.	0.143|0.143	10.5789|10.5789	0.45244|0.45244	0.0:0.9113:0.0:0.0887|0.0:0.9113:0.0:0.0887	.|.	417;7;417|.	E7ERY2;C9JDP8;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	Y|S	417;417;108;7|50	ENSP00000435506:D417Y;ENSP00000372316:D417Y|.	ENSP00000253313:D108Y|.	D|R	-|-	1|3	0|2	POLN|POLN	2146276|2146276	0.944000|0.944000	0.32072|0.32072	0.510000|0.510000	0.27712|0.27712	0.072000|0.072000	0.16883|0.16883	1.883000|1.883000	0.39658|0.39658	1.409000|1.409000	0.46915|0.46915	0.462000|0.462000	0.41574|0.41574	GAT|AGG	POLN	-	superfamily_RNaseH-like_dom		0.313	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	C	NM_181808	Missense_Mutation	2176478	-1	no_errors	ENST00000382865	ensembl	human	known	70_37	missense	SNP	0.914	A	A	2176478	C	A	2176478	5	1	131	1	0	0	0	0	0	0	1	0	12231	869	30	3	1521	3	POLN	4	2176478	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1230319	2176478	188977798	488	20628										
HAUS3	79441	genome.wustl.edu	37	chr4	2240337	2240337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaagcatacgtacctatgaGtagaataatccttagtatca	7	7	1	3	rs73796992	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:2240337G>T	ENST00000243706.4	-	3	1572	c.1343C>A	c.(1342-1344)aCt>aAt	p.T448N	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.T448N|HAUS3_ENST00000506763.1_Missense_Mutation_p.T448N	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	448					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTACCTATGAGTAGAATAATC	0.308																																																	0													113	116	115					4																	2240337		2203	4298	6501	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1343C>A	4.37:g.2240337G>T	ENSP00000243706:p.Thr448Asn		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.T448N	ENST00000243706.4	37	c.1343	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230505	0.39399	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.46819	0.86;0.86	5.76	5.76	0.90799	.	0.214672	0.39615	U	0.001301	T	0.43634	0.1256	L	0.48642	1.525	0.80722	D	1	B;B	0.28584	0.216;0.216	B;B	0.26770	0.073;0.073	T	0.23119	-1.0197	10	0.20519	T	0.43	-39.04	18.9305	0.92563	0.0:0.0:1.0:0.0	.	448;448	B4DF64;Q68CZ6	.;HAUS3_HUMAN	N	448	ENSP00000243706:T448N;ENSP00000392903:T448N	ENSP00000243706:T448N	T	-	2	0	HAUS3	2210135	1.000000	0.71417	0.992000	0.48379	0.498000	0.33706	4.940000	0.63533	2.708000	0.92522	0.591000	0.81541	ACT	HAUS3	-	NULL		0.308	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1	G	NM_024511		2240337	-1	no_errors	ENST00000243706	ensembl	human	known	70_37	missense	SNP	0.999	T	T	2240337	G	T	2240337	3	4	131	1	0	0	0	0	1	0	0	0	6987	1029	36	4	480	4	HAUS3	4	2240337	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	63859	2240337	188913939	489	20629										
HAUS3	79441	genome.wustl.edu	37	chr4	2240753	2240753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctagaaattttagcatccaaAttttctttgtccacagccta	4	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:2240753A>C	ENST00000243706.4	-	3	1156	c.927T>G	c.(925-927)aaT>aaG	p.N309K	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.N309K|HAUS3_ENST00000506763.1_Missense_Mutation_p.N309K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	309					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TAGCATCCAAATTTTCTTTGT	0.323																																																	0													43	43	43					4																	2240753		2201	4297	6498	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.927T>G	4.37:g.2240753A>C	ENSP00000243706:p.Asn309Lys		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.N309K	ENST00000243706.4	37	c.927	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603773	0.28534	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39229	1.09;1.09	5.98	3.59	0.41128	.	0.482205	0.20731	U	0.086703	T	0.28566	0.0707	L	0.52364	1.645	0.35012	D	0.757018	B;B	0.11235	0.004;0.002	B;B	0.15484	0.013;0.013	T	0.25916	-1.0118	10	0.02654	T	1	-6.1152	5.8523	0.18699	0.6821:0.0:0.3179:0.0	.	309;309	B4DF64;Q68CZ6	.;HAUS3_HUMAN	K	309	ENSP00000243706:N309K;ENSP00000392903:N309K	ENSP00000243706:N309K	N	-	3	2	HAUS3	2210551	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	1.708000	0.37899	1.083000	0.41159	0.482000	0.46254	AAT	HAUS3	-	NULL		0.323	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1	A	NM_024511		2240753	-1	no_errors	ENST00000243706	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2240753	A	C	2240753	3	2	131	1	0	0	0	0	1	0	0	0	6987	98	4	5	896	5	HAUS3	4	2240753	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	416	2240753	188913523	490	20630										
RGS12	6002	genome.wustl.edu	37	chr4	3430419	3430419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaaaaaatatcagaaaatTaatttggacgaagcagaggg	9	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:3430419T>G	ENST00000344733.5	+	16	4450	c.3546T>G	c.(3544-3546)atT>atG	p.I1182M	RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Missense_Mutation_p.I1182M|RGS12_ENST00000382788.3_Missense_Mutation_p.I1182M|RGS12_ENST00000338806.4_Missense_Mutation_p.I534M|RGS12_ENST00000306648.7_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1182					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGAAAATTAATTTGGACG	0.338																																																	0													45	50	48					4																	3430419		2202	4300	6502	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3546T>G	4.37:g.3430419T>G	ENSP00000339381:p.Ile1182Met		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.I1182M	ENST00000344733.5	37	c.3546	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867113	0.51588	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.38240	1.46;1.47;1.47;1.15	4.86	4.86	0.63082	.	0.055094	0.64402	D	0.000001	T	0.51227	0.1662	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.71674	0.998;0.989;0.996;0.997	D;D;D;D	0.71870	0.963;0.923;0.945;0.975	T	0.53774	-0.8391	10	0.41790	T	0.15	-18.8889	4.6686	0.12678	0.1807:0.0908:0.0:0.7285	.	524;534;1182;1182	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	M	1182;1182;1182;534	ENSP00000339381:I1182M;ENSP00000338509:I1182M;ENSP00000372238:I1182M;ENSP00000342133:I534M	ENSP00000338509:I1182M	I	+	3	3	RGS12	3400217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.422000	0.44696	1.945000	0.56424	0.533000	0.62120	ATT	RGS12	-	NULL		0.338	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	T	NM_002926		3430419	1	no_errors	ENST00000344733	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3430419	T	G	3430419	3	3	131	1	0	0	0	0	1	0	0	0	13325	1742	61	5	3662	5	RGS12	4	3430419	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1189666	3430419	187723857	491	20631										
LRPAP1	4043	genome.wustl.edu	37	chr4	3516584	3516584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgcgtgcctcagcttctcGtgcgcaatctccagctgctt	9	15	4	0	rs374981655		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:3516584G>A	ENST00000500728.2	-	7	1052	c.906C>T	c.(904-906)caC>caT	p.H302H	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	302	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCAGCTTCTCGTGCGCAATCT	0.607																																																	0								G		0,4406		0,0,2203	182	146	158		906	-1.7	0	4		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRPAP1	NM_002337.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		302/358	3516584	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4043				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.906C>T	4.37:g.3516584G>A			D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1	p.H302	ENST00000500728.2	37	c.906	CCDS3371.1	4																																																																																			LRPAP1	-	pfam_Alpha_2_MRAP_C,superfamily_MG_RAP_rcpt_1		0.607	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPAP1	HGNC	protein_coding	OTTHUMT00000206659.4	G			3516584	-1	no_errors	ENST00000500728	ensembl	human	known	70_37	silent	SNP	0.947	A	A	3516584	G	A	3516584	2	1	131	1	0	0	0	0	0	0	0	1	8987	1136	40	2		2	LRPAP1	4	3516584	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	86165	3516584	187637692	492	20632										
EVC2	132884	genome.wustl.edu	37	chr4	5633691	5633691	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttcttgttgcaaagcgagAgacttcctcaagtgctcctg	9	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:5633691A>C	ENST00000344408.5	-	11	1592	c.1539T>G	c.(1537-1539)tcT>tcG	p.S513S	EVC2_ENST00000344938.1_Silent_p.S513S|EVC2_ENST00000310917.2_Silent_p.S433S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	513					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAAAGCGAGAGACTTCCTCA	0.483																																																	0													91	90	91					4																	5633691		2203	4300	6503	SO:0001819	synonymous_variant	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1539T>G	4.37:g.5633691A>C			Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.S431A	ENST00000344408.5	37	c.1291	CCDS3382.2	4																																																																																			EVC2	-	NULL		0.483	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	A	NM_147127		5633691	-1	no_errors	ENST00000509670	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5633691	A	C	5633691	2	2	131	1	0	0	0	0	0	0	0	1	5298	291	11	5		5	EVC2	4	5633691	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2117107	5633691	185520585	493	20633										
KIAA0232	9778	genome.wustl.edu	37	chr4	6862712	6862712	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaacaagtctaaagtctgTtcttactctagctcttcttc	6	10	6	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:6862712T>C	ENST00000307659.5	+	7	1058	c.603T>C	c.(601-603)tgT>tgC	p.C201C	KIAA0232_ENST00000425103.1_Silent_p.C201C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	201							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTAAAGTCTGTTCTTACTCTA	0.433																																																	0													132	135	134					4																	6862712		2031	4194	6225	SO:0001819	synonymous_variant	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.603T>C	4.37:g.6862712T>C			A7E2D2	Silent	SNP	NULL	p.C201	ENST00000307659.5	37	c.603	CCDS43209.1	4																																																																																			KIAA0232	-	NULL		0.433	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	T	NM_014743		6862712	1	no_errors	ENST00000307659	ensembl	human	known	70_37	silent	SNP	0.945	C	C	6862712	T	C	6862712	2	2	131	1	0	0	0	0	0	0	0	1	8183	1731	60	5		5	KIAA0232	4	6862712	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1229021	6862712	184291564	494	20634										
SORCS2	57537	genome.wustl.edu	37	chr4	7668894	7668894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atactacgtctcttatcgtcGaaatgaatttgtcctgatga	7	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:7668894G>A	ENST00000507866.2	+	8	1224	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R200Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	372					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATCGTCGAAATGAATTT	0.493																																																	0													206	199	201					4																	7668894		1988	4177	6165	SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1115G>A	4.37:g.7668894G>A	ENSP00000422185:p.Arg372Gln		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.R372Q	ENST00000507866.2	37	c.1115	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870999	0.51695	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.56103	0.48;0.48	4.45	3.6	0.41247	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.73984	0.3657	M	0.87971	2.92	0.49915	D	0.999837	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.78471	-0.2191	10	0.87932	D	0	.	12.1085	0.53825	0.0848:0.0:0.9152:0.0	.	200;372	B5MED8;Q96PQ0	.;SORC2_HUMAN	Q	372;200	ENSP00000422185:R372Q;ENSP00000329124:R200Q	ENSP00000329124:R200Q	R	+	2	0	SORCS2	7719794	1.000000	0.71417	0.005000	0.12908	0.007000	0.05969	6.108000	0.71522	1.087000	0.41251	0.655000	0.94253	CGA	SORCS2	-	smart_VPS10		0.493	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	G	NM_020777		7668894	1	no_errors	ENST00000507866	ensembl	human	known	70_37	missense	SNP	0.981	A	A	7668894	G	A	7668894	3	1	131	1	0	0	0	0	1	0	0	0	14961	1058	37	1	1145	1	SORCS2	4	7668894	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	806182	7668894	183485382	495	20635										
LAP3	51056	genome.wustl.edu	37	chr4	17583415	17583415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgaaggcagggaagactcGaaccttttatggtctgcatc	11	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:17583415G>A	ENST00000226299.4	+	3	525	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	LAP3_ENST00000606142.1_Missense_Mutation_p.R53Q	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	84					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGGAAGACTCGAACCTTTTAT	0.428																																																	0													187	177	180					4																	17583415		2203	4300	6503	SO:0001583	missense	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.251G>A	4.37:g.17583415G>A	ENSP00000226299:p.Arg84Gln		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.R84Q	ENST00000226299.4	37	c.251	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.819626	0.96982	.	.	ENSG00000002549	ENST00000226299	T	0.44881	0.91	5.87	5.87	0.94306	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.67639	-0.5619	10	0.37606	T	0.19	-12.1137	20.5827	0.99408	0.0:0.0:1.0:0.0	.	53;84	P28838-2;P28838	.;AMPL_HUMAN	Q	84	ENSP00000226299:R84Q	ENSP00000226299:R84Q	R	+	2	0	LAP3	17192513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.048000	0.76606	2.941000	0.99782	0.655000	0.94253	CGA	LAP3	-	pfam_Peptidase_M17_N		0.428	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	G			17583415	1	no_errors	ENST00000226299	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17583415	G	A	17583415	3	1	131	1	0	0	0	0	1	0	0	0	8643	1058	37	1	261	1	LAP3	4	17583415	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	9914521	17583415	173570861	496	20636										
LGI2	55203	genome.wustl.edu	37	chr4	25005856	25005856	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accacaaagacctgatcatcGatgagaatggccttacagcc	8	12	1	3	rs151209012		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:25005856G>A	ENST00000382114.4	-	8	1040	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	285						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCTGATCATCGATGAGAATGG	0.463																																																	0													150	150	150					4																	25005856		2203	4300	6503	SO:0001819	synonymous_variant	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.855C>T	4.37:g.25005856G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.I285	ENST00000382114.4	37	c.855	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP		0.463	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	G			25005856	-1	no_errors	ENST00000382114	ensembl	human	known	70_37	silent	SNP	0.998	A	A	25005856	G	A	25005856	2	1	131	1	0	0	0	0	0	0	0	1	8772	1048	37	1		1	LGI2	4	25005856	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7422441	25005856	166148420	497	20637										
STIM2	57620	genome.wustl.edu	37	chr4	27009185	27009185	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctgaaaaaggccgaaaaaGaatttgaactgagaagcagt	10	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:27009185G>T	ENST00000467011.1	+	8	1437	c.1012G>T	c.(1012-1014)Gaa>Taa	p.E338*	STIM2_ENST00000412829.2_Nonsense_Mutation_p.E425*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E338*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E425*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E338*|STIM2_ENST00000382009.3_Nonsense_Mutation_p.E425*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	338					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GGCCGAAAAAGAATTTGAACT	0.388																																																	0													61	61	61					4																	27009185		2203	4300	6503	SO:0001587	stop_gained	57620			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1012G>T	4.37:g.27009185G>T	ENSP00000419383:p.Glu338*		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.E425*	ENST00000467011.1	37	c.1273	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.268899	0.99120	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519	.	.	.	5.22	5.22	0.72569	.	0.157892	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1387	0.93439	0.0:0.0:1.0:0.0	.	.	.	.	X	338;425;425;338;425;338;46	.	ENSP00000237364:E425X	E	+	1	0	STIM2	26618283	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.192000	0.65115	2.603000	0.88011	0.591000	0.81541	GAA	STIM2	-	NULL		0.388	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	G	NM_020860		27009185	1	no_errors	ENST00000382009	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27009185	G	T	27009185	4	4	131	1	0	0	0	0	0	1	0	0	15314	943	33	3	1042	3	STIM2	4	27009185	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2003329	27009185	164145091	498	20638										
ARAP2	116984	genome.wustl.edu	37	chr4	36212106	36212106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agatattgcctgtgaagaaaCggctgatgaatcagcatttc	10	7	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:36212106C>T	ENST00000303965.4	-	6	1882	c.1393G>A	c.(1393-1395)Gtt>Att	p.V465I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	465					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTGAAGAAACGGCTGATGAA	0.428																																																	0													124	124	124					4																	36212106		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1393G>A	4.37:g.36212106C>T	ENSP00000302895:p.Val465Ile		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.V465I	ENST00000303965.4	37	c.1393	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.687724	0.00738	.	.	ENSG00000047365	ENST00000303965	T	0.12672	2.66	5.51	-10.5	0.00291	.	1.834890	0.02306	N	0.071660	T	0.03915	0.0110	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32640	-0.9899	10	0.17369	T	0.5	.	6.4111	0.21692	0.2155:0.3599:0.0:0.4245	.	395;465	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	I	465	ENSP00000302895:V465I	ENSP00000302895:V465I	V	-	1	0	ARAP2	35888501	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.443000	0.01013	-1.248000	0.02503	-1.419000	0.01111	GTT	ARAP2	-	NULL		0.428	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	C	NM_015230		36212106	-1	no_errors	ENST00000303965	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36212106	C	T	36212106	3	4	131	1	0	0	0	0	1	0	0	0	839	536	19	2	3833	2	ARAP2	4	36212106	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9202921	36212106	154942170	499	20639										
KLF3	51274	genome.wustl.edu	37	chr4	38698705	38698705	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctttttccttttgcaggaGaaaaaccctacaaatgtaca	5	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:38698705G>T	ENST00000261438.5	+	6	1164	c.859G>T	c.(859-861)Gaa>Taa	p.E287*		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	287					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTTTGCAGGAGAAAAACCCTA	0.343																																																	0													71	69	70					4																	38698705		2203	4300	6503	SO:0001587	stop_gained	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.859G>T	4.37:g.38698705G>T	ENSP00000261438:p.Glu287*		Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E287*	ENST00000261438.5	37	c.859	CCDS3444.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.737256	0.98462	.	.	ENSG00000109787	ENST00000261438	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	287	.	ENSP00000261438:E287X	E	+	1	0	KLF3	38375100	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAA	KLF3	-	pfscan_Znf_C2H2		0.343	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	G			38698705	1	no_errors	ENST00000261438	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38698705	G	T	38698705	4	4	131	1	0	0	0	0	0	1	0	0	8367	943	33	3	877	3	KLF3	4	38698705	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2486599	38698705	152455571	500	20640										
TLR10	81793	genome.wustl.edu	37	chr4	38775990	38775990	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcatttttatgttgtaataGattttgactcagatccaagt	6	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:38775990G>T	ENST00000308973.4	-	4	1827	c.1222C>A	c.(1222-1224)Cta>Ata	p.L408I	TLR10_ENST00000506111.1_Missense_Mutation_p.L408I|TLR10_ENST00000361424.2_Missense_Mutation_p.L408I|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.L408I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	408					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TGTTGTAATAGATTTTGACTC	0.353																																																	0													62	66	65					4																	38775990		2203	4299	6502	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1222C>A	4.37:g.38775990G>T	ENSP00000308925:p.Leu408Ile		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom	p.L408I	ENST00000308973.4	37	c.1222	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448602	0.26074	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.17	4.32	0.51571	.	0.000000	0.38217	N	0.001764	T	0.34919	0.0914	M	0.74881	2.28	0.09310	N	1	P	0.42649	0.786	P	0.49226	0.603	T	0.17745	-1.0359	10	0.33940	T	0.23	.	6.5819	0.22598	0.2078:0.1381:0.6542:0.0	.	408	Q9BXR5	TLR10_HUMAN	I	408	ENSP00000308925:L408I;ENSP00000421483:L408I;ENSP00000354459:L408I;ENSP00000424923:L408I	ENSP00000308925:L408I	L	-	1	2	TLR10	38452385	0.073000	0.21202	0.610000	0.28997	0.790000	0.44656	0.520000	0.22878	1.146000	0.42352	0.585000	0.79938	CTA	TLR10	-	pirsf_Toll-like_receptor		0.353	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	G			38775990	-1	no_errors	ENST00000308973	ensembl	human	known	70_37	missense	SNP	0.064	T	T	38775990	G	T	38775990	3	4	131	1	0	0	0	0	1	0	0	0	15980	933	33	3	1217	3	TLR10	4	38775990	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	77285	38775990	152378286	501	20641										
UCHL1	7345	genome.wustl.edu	37	chr4	41262670	41262670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttacattcgcagcatgagAacttcaggaaaaagcagatt	8	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:41262670A>C	ENST00000284440.4	+	4	325	c.181A>C	c.(181-183)Aac>Cac	p.N61H	UCHL1_ENST00000503431.1_Missense_Mutation_p.N61H|UCHL1_ENST00000512788.1_Missense_Mutation_p.N61H|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000508768.1_Missense_Mutation_p.N61H	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	61					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GCAGCATGAGAACTTCAGGAA	0.418																																																	0													96	89	91					4																	41262670		2203	4300	6503	SO:0001583	missense	7345			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"Parkinson disease"	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.181A>C	4.37:g.41262670A>C	ENSP00000284440:p.Asn61His		Q4W5K6|Q71UM0	Missense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.N61H	ENST00000284440.4	37	c.181	CCDS3462.1	4	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302494	0.60195	.	.	ENSG00000154277	ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.207467	0.49916	D	0.000136	T	0.53077	0.1774	L	0.46741	1.465	0.46376	D	0.999015	P	0.42556	0.783	P	0.45071	0.468	T	0.57277	-0.7839	10	0.56958	D	0.05	-24.3722	14.9781	0.71289	1.0:0.0:0.0:0.0	.	61	P09936	UCHL1_HUMAN	H	61	ENSP00000422542:N61H;ENSP00000284440:N61H;ENSP00000426895:N61H;ENSP00000423623:N61H	ENSP00000284440:N61H	N	+	1	0	UCHL1	40957427	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.597000	0.46214	2.117000	0.64856	0.533000	0.62120	AAC	UCHL1	-	pfam_Peptidase_C12		0.418	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL1	HGNC	protein_coding	OTTHUMT00000216827.1	A	NM_004181		41262670	1	no_errors	ENST00000284440	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41262670	A	C	41262670	3	2	131	1	0	0	0	0	1	0	0	0	16951	246	9	5	195	5	UCHL1	4	41262670	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2486680	41262670	149891606	502	20642										
GABRA4	2557	genome.wustl.edu	37	chr4	46973127	46973127	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtcctagcgggaactgattCtttatttatccaaaatgaaa	7	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:46973127C>A	ENST00000264318.3	-	7	1829	c.847G>T	c.(847-849)Gaa>Taa	p.E283*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	283					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGAACTGATTCTTTATTTATC	0.348																																					Ovarian(6;283 369 8234 12290 33402)												0													61	60	60					4																	46973127		2202	4299	6501	SO:0001587	stop_gained	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.847G>T	4.37:g.46973127C>A	ENSP00000264318:p.Glu283*		Q8IYR7	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E283*	ENST00000264318.3	37	c.847	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.919780	0.99617	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.42	5.42	0.78866	.	0.056829	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3928	0.90489	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000264318:E283X	E	-	1	0	GABRA4	46667884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.821000	0.97095	0.650000	0.86243	GAA	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.348	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	C			46973127	-1	no_errors	ENST00000264318	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46973127	C	A	46973127	4	1	131	1	0	0	0	0	0	1	0	0	6181	922	32	3	829	3	GABRA4	4	46973127	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5710457	46973127	144181149	503	20643										
CORIN	10699	genome.wustl.edu	37	chr4	47625621	47625621	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggcaactgtcagaacccacTtcttggcaatgaggacacag	11	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:47625621T>G	ENST00000273857.4	-	19	2506	c.2507A>C	c.(2506-2508)aAg>aCg	p.K836T	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Missense_Mutation_p.K697T|CORIN_ENST00000505909.1_Missense_Mutation_p.K799T|CORIN_ENST00000502252.1_Missense_Mutation_p.K769T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	836	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGAACCCACTTCTTGGCAAT	0.527																																																	0													103	99	100					4																	47625621		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2507A>C	4.37:g.47625621T>G	ENSP00000273857:p.Lys836Thr		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K836T	ENST00000273857.4	37	c.2507	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273451	0.59649	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.14	2.72	0.32119	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.224651	0.37136	N	0.002228	T	0.81312	0.4796	N	0.11789	0.175	0.80722	D	1	P;B	0.48407	0.91;0.329	P;B	0.49140	0.601;0.288	T	0.78658	-0.2118	10	0.41790	T	0.15	.	8.2881	0.31941	0.0:0.2348:0.0:0.7652	.	769;836	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	T	836;697;769;799	ENSP00000273857:K836T;ENSP00000425597:K697T;ENSP00000424212:K769T;ENSP00000425401:K799T	ENSP00000273857:K836T	K	-	2	0	CORIN	47320378	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.863000	0.39459	0.901000	0.36495	-0.334000	0.08254	AAG	CORIN	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.527	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	T			47625621	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	missense	SNP	0.998	G	G	47625621	T	G	47625621	3	3	131	1	0	0	0	0	1	0	0	0	3757	1609	56	5	637	5	CORIN	4	47625621	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	652494	47625621	143528655	504	20644										
CORIN	10699	genome.wustl.edu	37	chr4	47667068	47667068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgcaaggagggatatgctCgcctgtattcacatcacatt	9	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:47667068C>T	ENST00000273857.4	-	11	1569	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	CORIN_ENST00000508498.1_Missense_Mutation_p.E385K|CORIN_ENST00000505909.1_Missense_Mutation_p.E487K|CORIN_ENST00000504584.1_Missense_Mutation_p.E487K|CORIN_ENST00000502252.1_Missense_Mutation_p.E457K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	524	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGATATGCTCGCCTGTATTC	0.423																																																	0													79	80	79					4																	47667068		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1570G>A	4.37:g.47667068C>T	ENSP00000273857:p.Glu524Lys		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E524K	ENST00000273857.4	37	c.1570	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373989	0.42105	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.25	4.41	0.53225	Frizzled domain (5);	0.313155	0.31323	N	0.007846	T	0.48466	0.1501	N	0.04705	-0.18	0.09310	N	0.999997	B;B;P;B	0.38551	0.216;0.139;0.636;0.027	B;B;B;B	0.31495	0.025;0.028;0.131;0.032	T	0.44574	-0.9319	10	0.06757	T	0.87	.	16.0173	0.80450	0.0:0.254:0.746:0.0	.	487;487;457;524	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	K	524;385;457;487;487	ENSP00000273857:E524K;ENSP00000425597:E385K;ENSP00000424212:E457K;ENSP00000425401:E487K;ENSP00000423216:E487K	ENSP00000273857:E524K	E	-	1	0	CORIN	47361825	1.000000	0.71417	0.054000	0.19295	0.006000	0.05464	5.577000	0.67444	0.804000	0.34136	-0.780000	0.03373	GAG	CORIN	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom		0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	C			47667068	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	missense	SNP	0.896	T	T	47667068	C	T	47667068	3	4	131	1	0	0	0	0	1	0	0	0	3757	893	31	1	1606	1	CORIN	4	47667068	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	41447	47667068	143487208	505	20645										
NIPAL1	152519	genome.wustl.edu	37	chr4	48038114	48038114	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcaatgaaaacaattatgtTttactagagaacttggagtg	9	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:48038114T>G	ENST00000295461.5	+	6	1224	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	386						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAATTATGTTTTACTAGAGA	0.368																																																	0													87	84	85					4																	48038114		2203	4300	6503	SO:0001819	synonymous_variant	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1158T>G	4.37:g.48038114T>G			B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.V386	ENST00000295461.5	37	c.1158	CCDS3479.1	4																																																																																			NIPAL1	-	NULL		0.368	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	T	NM_207330		48038114	1	no_errors	ENST00000295461	ensembl	human	known	70_37	silent	SNP	0.161	G	G	48038114	T	G	48038114	2	3	131	1	0	0	0	0	0	0	0	1	10448	1828	64	5		5	NIPAL1	4	48038114	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	371046	48038114	143116162	506	20646										
CWH43	80157	genome.wustl.edu	37	chr4	48988465	48988465	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgatgccctcgctgtggagaGaaatcctcttggagtcgctg	13	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:48988465G>T	ENST00000226432.4	+	1	202	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CWH43_ENST00000513409.1_5'Flank	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	7					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGGAGAGAAATCCTCTT	0.716																																																	0													14	16	15					4																	48988465		2151	4191	6342	SO:0001587	stop_gained	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.19G>T	4.37:g.48988465G>T	ENSP00000226432:p.Glu7*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.E7*	ENST00000226432.4	37	c.19	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.456816	0.96223	.	.	ENSG00000109182	ENST00000226432	.	.	.	3.07	3.07	0.35406	.	0.510472	0.16651	N	0.205201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1067	0.59252	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	.	E	+	1	0	CWH43	48683222	0.993000	0.37304	0.750000	0.31169	0.009000	0.06853	4.340000	0.59328	2.016000	0.59253	0.563000	0.77884	GAA	CWH43	-	NULL		0.716	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	G	NM_025087		48988465	1	no_errors	ENST00000226432	ensembl	human	known	70_37	nonsense	SNP	0.833	T	T	48988465	G	T	48988465	4	4	131	1	0	0	0	0	0	1	0	0	4078	943	33	3	21	3	CWH43	4	48988465	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	950351	48988465	142165811	507	20647										
SCFD2	152579	genome.wustl.edu	37	chr4	54231279	54231279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caatgcacttacctgtgagaTccagggttctgtccacaaaa	8	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:54231279T>C	ENST00000401642.3	-	1	963	c.830A>G	c.(829-831)gAt>gGt	p.D277G	SCFD2_ENST00000388940.4_Missense_Mutation_p.D277G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	277					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCTGTGAGATCCAGGGTTCT	0.458																																																	0													110	109	109					4																	54231279		2203	4300	6503	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.830A>G	4.37:g.54231279T>C	ENSP00000384182:p.Asp277Gly		Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D277G	ENST00000401642.3	37	c.830	CCDS33984.1	4	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670237	0.47677	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.94897	-3.55;-3.55	5.03	5.03	0.67393	.	0.050489	0.85682	D	0.000000	D	0.95121	0.8419	M	0.79926	2.475	0.58432	D	0.999996	P;P	0.51351	0.944;0.908	P;B	0.48270	0.572;0.368	D	0.95475	0.8555	10	0.87932	D	0	.	12.7533	0.57320	0.0:0.0:0.0:1.0	.	277;277	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	G	277	ENSP00000384182:D277G;ENSP00000373592:D277G	ENSP00000373592:D277G	D	-	2	0	SCFD2	53926036	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.254000	0.78329	2.125000	0.65367	0.379000	0.24179	GAT	SCFD2	-	NULL		0.458	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	T	NM_152540		54231279	-1	no_errors	ENST00000401642	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54231279	T	C	54231279	3	2	131	1	0	0	0	0	1	0	0	0	13920	1435	50	5	1260	5	SCFD2	4	54231279	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5242814	54231279	136922997	508	20648										
PDGFRA	5156	genome.wustl.edu	37	chr4	55130043	55130043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctatatctgtgaggccaccGtcaaaggaaagaagttccag	10	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:55130043G>A	ENST00000257290.5	+	4	908	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	PDGFRA_ENST00000508170.1_Missense_Mutation_p.V193I|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	193	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V193I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAGGCCACCGTCAAAGGAAA	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	lung(1)											86	84	85					4																	55130043		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.577G>A	4.37:g.55130043G>A	ENSP00000257290:p.Val193Ile		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.V193I	ENST00000257290.5	37	c.577	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	2.689	-0.273592	0.05679	.	.	ENSG00000134853	ENST00000257290;ENST00000508170	T;T	0.04706	3.57;3.57	5.64	2.55	0.30701	Immunoglobulin-like fold (1);	0.297707	0.18177	U	0.149269	T	0.02533	0.0077	N	0.17345	0.48	0.09310	N	1	B;B;B	0.32620	0.004;0.042;0.378	B;B;B	0.28385	0.006;0.009;0.089	T	0.46162	-0.9211	10	0.10377	T	0.69	.	7.4549	0.27261	0.1547:0.0:0.7087:0.1366	.	193;193;193	P16234-3;P16234;P16234-2	.;PGFRA_HUMAN;.	I	193	ENSP00000257290:V193I;ENSP00000425648:V193I	ENSP00000257290:V193I	V	+	1	0	PDGFRA	54824800	0.555000	0.26530	0.019000	0.16419	0.716000	0.41182	0.894000	0.28350	0.669000	0.31146	0.462000	0.41574	GTC	PDGFRA	-	smart_Ig_sub,pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	G	NM_006206		55130043	1	no_errors	ENST00000257290	ensembl	human	known	70_37	missense	SNP	0.006	A	A	55130043	G	A	55130043	3	1	131	1	0	0	0	0	1	0	0	0	11685	1145	40	2	587	2	PDGFRA	4	55130043	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	898764	55130043	136024233	509	20649										
SRD5A3	79644	genome.wustl.edu	37	chr4	56233805	56233805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagcacggtggttccatattCttgggatgatgatgttcatc	11	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:56233805C>A	ENST00000264228.4	+	4	841	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	205					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GTTCCATATTCTTGGGATGAT	0.408																																																	0													198	170	179					4																	56233805		2203	4300	6503	SO:0001583	missense	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.613C>A	4.37:g.56233805C>A	ENSP00000264228:p.Leu205Ile		Q4W5Q6	Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.L205I	ENST00000264228.4	37	c.613	CCDS3498.1	4	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483227	0.44147	.	.	ENSG00000128039	ENST00000264228	T	0.29142	1.58	6.07	5.23	0.72850	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.296851	0.34223	N	0.004155	T	0.21881	0.0527	N	0.17723	0.515	0.45307	D	0.998307	P	0.34724	0.465	B	0.38225	0.268	T	0.03587	-1.1022	10	0.09843	T	0.71	-18.4008	14.7117	0.69238	0.0:0.9289:0.0:0.0711	.	205	Q9H8P0	PORED_HUMAN	I	205	ENSP00000264228:L205I	ENSP00000264228:L205I	L	+	1	0	SRD5A3	55928562	0.998000	0.40836	0.995000	0.50966	0.152000	0.21847	0.863000	0.27913	1.550000	0.49438	0.655000	0.94253	CTT	SRD5A3	-	pfam_3-oxo-5_a-steroid_4-DH_C		0.408	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3	HGNC	protein_coding	OTTHUMT00000250644.2	C	NM_024592		56233805	1	no_errors	ENST00000264228	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56233805	C	A	56233805	3	1	131	1	0	0	0	0	1	0	0	0	15170	913	32	3	627	3	SRD5A3	4	56233805	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1103762	56233805	134920471	510	20650										
KIAA1211	57482	genome.wustl.edu	37	chr4	57193851	57193851	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccccagcgccgctggtaaaaGaagtcaccaagaggttttcc	10	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:57193851G>T	ENST00000504228.1	+	9	3688	c.3583G>T	c.(3583-3585)Gaa>Taa	p.E1195*	KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.E1188*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.E1195*			Q6ZU35	K1211_HUMAN	KIAA1211	1195										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTGGTAAAAGAAGTCACCAA	0.517																																																	0													103	107	106					4																	57193851		1826	4081	5907	SO:0001587	stop_gained	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3583G>T	4.37:g.57193851G>T	ENSP00000423366:p.Glu1195*		Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	NULL	p.E1195*	ENST00000504228.1	37	c.3583	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.469449	0.98302	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.7866	19.5815	0.95469	0.0:0.0:1.0:0.0	.	.	.	.	X	1195;1195;1188	.	ENSP00000264229:E1195X	E	+	1	0	KIAA1211	56888608	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	9.334000	0.96470	2.620000	0.88729	0.655000	0.94253	GAA	KIAA1211	-	NULL		0.517	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	G	NM_020722		57193851	1	no_errors	ENST00000504228	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	57193851	G	T	57193851	4	4	131	1	0	0	0	0	0	1	0	0	8235	943	33	3	3613	3	KIAA1211	4	57193851	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	960046	57193851	133960425	511	20651										
CENPC1	1060	genome.wustl.edu	37	chr4	68384053	68384053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actttattatctatttctatTttctttaacataactttatc	0	7	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:68384053T>G	ENST00000273853.6	-	7	901	c.651A>C	c.(649-651)aaA>aaC	p.K217N		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	217					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CTATTTCTATTTTCTTTAACA	0.333																																																	0													31	28	29					4																	68384053		1766	3995	5761	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.651A>C	4.37:g.68384053T>G	ENSP00000273853:p.Lys217Asn		Q8IW27|Q9P0M5	Missense_Mutation	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.K217N	ENST00000273853.6	37	c.651	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	T	8.878	0.950965	0.18431	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.16	-0.495	0.12030	.	1.231060	0.05534	N	0.564532	T	0.40595	0.1123	L	0.54323	1.7	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.25433	-1.0132	9	0.33940	T	0.23	-0.1912	5.1767	0.15139	0.2897:0.0:0.3427:0.3676	.	217;217	Q8IW27;Q03188	.;CENPC_HUMAN	N	217	.	ENSP00000273853:K217N	K	-	3	2	CENPC1	68066648	0.106000	0.21978	0.000000	0.03702	0.009000	0.06853	0.323000	0.19593	-0.191000	0.10448	0.482000	0.46254	AAA	CENPC1	-	NULL		0.333	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	HGNC	protein_coding	OTTHUMT00000362001.2	T			68384053	-1	no_errors	ENST00000273853	ensembl	human	known	70_37	missense	SNP	0.000	G	G	68384053	T	G	68384053	3	3	131	1	0	0	0	0	1	0	0	0	3234	1838	64	5	2232	5	CENPC1	4	68384053	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	11190202	68384053	122770223	512	20652										
STAP1	26228	genome.wustl.edu	37	chr4	68456646	68456646	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtgatgagcgtaggacaaaActacactattgaactggaaa	10	6	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:68456646A>C	ENST00000265404.2	+	7	786	c.704A>C	c.(703-705)aAc>aCc	p.N235T	STAP1_ENST00000396225.1_Missense_Mutation_p.N235T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	235	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GTAGGACAAAACTACACTATT	0.363																																																	0													88	76	80					4																	68456646		2203	4300	6503	SO:0001583	missense	26228			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.704A>C	4.37:g.68456646A>C	ENSP00000265404:p.Asn235Thr		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.N235T	ENST00000265404.2	37	c.704	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	A	8.066	0.769285	0.15983	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.88354	-2.37;-2.37	5.56	1.86	0.25419	SH2 motif (4);	0.225800	0.47455	D	0.000238	D	0.82848	0.5126	L	0.46157	1.445	0.34117	D	0.66368	B	0.32653	0.379	B	0.35182	0.197	T	0.80183	-0.1488	10	0.37606	T	0.19	-14.3767	6.5734	0.22551	0.7242:0.0:0.2758:0.0	.	235	Q9ULZ2	STAP1_HUMAN	T	235	ENSP00000265404:N235T;ENSP00000379527:N235T	ENSP00000265404:N235T	N	+	2	0	STAP1	68139241	0.998000	0.40836	0.977000	0.42913	0.679000	0.39708	1.465000	0.35299	0.486000	0.27676	0.528000	0.53228	AAC	STAP1	-	pfam_SH2,smart_SH2,pfscan_SH2		0.363	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	A	NM_012108		68456646	1	no_errors	ENST00000265404	ensembl	human	known	70_37	missense	SNP	0.966	C	C	68456646	A	C	68456646	3	2	131	1	0	0	0	0	1	0	0	0	15282	43	2	5	730	5	STAP1	4	68456646	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	72593	68456646	122697630	513	20653										
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68777060	68777060	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtttaacttttatcgtgaaTtagatgcctgtttttgaagc	8	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:68777060T>G	ENST00000334830.7	-	10	2012	c.1266A>C	c.(1264-1266)taA>taC	p.*422Y	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Nonstop_Mutation_p.*418Y|TMPRSS11A_ENST00000396188.2_Nonstop_Mutation_p.*419Y			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	0					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTATCGTGAATTAGATGCCTG	0.363																																					NSCLC(26;2 894 10941 14480 22546)												0													169	159	162					4																	68777060		2203	4300	6503	SO:0001578	stop_lost	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1266A>C	4.37:g.68777060T>G			J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Nonstop_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.*422Y	ENST00000334830.7	37	c.1266	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371084	0.24771	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	.	.	.	5.34	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.183	0.20482	0.0:0.179:0.0:0.821	.	.	.	.	Y	418;422;419;386	.	.	X	-	3	2	TMPRSS11A	68459655	0.600000	0.26899	0.858000	0.33744	0.213000	0.24496	1.139000	0.31504	2.155000	0.67459	0.377000	0.23210	TAA	TMPRSS11A	-	NULL		0.363	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	T	NM_182606		68777060	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	nonstop	SNP	0.860	G	G	68777060	T	G	68777060	4	3	131	1	0	0	0	0	0	0	0	0	16269	1500	52	5	3	5	TMPRSS11A	4	68777060	Nonstop_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	320414	68777060	122377216	514	20654										
YTHDC1	91746	genome.wustl.edu	37	chr4	69203597	69203597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggtatcagtagattccattCgatcactttttctttttgat	6	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:69203597C>T	ENST00000344157.4	-	3	487	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R51Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R51Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	51					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGATTCCATTCGATCACTTTT	0.303																																																	0													84	81	82					4																	69203597		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.152G>A	4.37:g.69203597C>T	ENSP00000339245:p.Arg51Gln		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R51Q	ENST00000344157.4	37	c.152	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196124	0.78902	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29397	1.69;1.57	5.27	5.27	0.74061	.	0.269079	0.36409	N	0.002604	T	0.41465	0.1160	N	0.19112	0.55	0.48762	D	0.999707	D;P	0.71674	0.998;0.496	D;B	0.75484	0.986;0.063	T	0.18085	-1.0348	10	0.25106	T	0.35	.	19.2421	0.93888	0.0:1.0:0.0:0.0	.	51;51	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	51	ENSP00000339245:R51Q;ENSP00000347888:R51Q	ENSP00000339245:R51Q	R	-	2	0	YTHDC1	68886192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.269000	0.65542	2.597000	0.87782	0.585000	0.79938	CGA	YTHDC1	-	NULL		0.303	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69203597	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69203597	C	T	69203597	3	4	131	1	0	0	0	0	1	0	0	0	17527	884	31	1	2091	1	YTHDC1	4	69203597	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	426537	69203597	121950679	515	20655										
UGT2B4	7363	genome.wustl.edu	37	chr4	70361486	70361486	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attcatccagtggctgaattCtgtgggccacaccagcacct	9	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:70361486C>A	ENST00000305107.6	-	1	140	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.E32*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	32					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TGGCTGAATTCTGTGGGCCAC	0.458																																																	0													146	148	147					4																	70361486		2203	4299	6502	SO:0001587	stop_gained	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.94G>T	4.37:g.70361486C>A	ENSP00000305221:p.Glu32*		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E32*	ENST00000305107.6	37	c.94	CCDS43234.1	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585448	0.86748	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	.	.	.	2.41	1.53	0.23141	.	0.166670	0.37577	U	0.002025	.	.	.	.	.	.	0.34855	D	0.742058	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7643	0.23558	0.0:0.8375:0.0:0.1625	.	.	.	.	X	32	.	ENSP00000305221:E32X	E	-	1	0	UGT2B4	70396075	0.986000	0.35501	0.003000	0.11579	0.019000	0.09904	2.972000	0.49256	1.343000	0.45638	0.306000	0.20318	GAA	UGT2B4	-	pfam_UDP_glucos_trans		0.458	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	C	NM_021139		70361486	-1	no_errors	ENST00000305107	ensembl	human	known	70_37	nonsense	SNP	0.057	A	A	70361486	C	A	70361486	4	1	131	1	0	0	0	0	0	1	0	0	16992	922	32	3	1516	3	UGT2B4	4	70361486	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1157889	70361486	120792790	516	20656										
AMTN	401138	genome.wustl.edu	37	chr4	71394916	71394916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttagggcactatcctaagcTcagaggaattggtaaaaaaa	9	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:71394916T>C	ENST00000339336.4	+	7	476	c.346T>C	c.(346-348)Tca>Cca	p.S116P	AMTN_ENST00000504451.1_Missense_Mutation_p.S115P	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	116					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TATCCTAAGCTCAGAGGAATT	0.264																																																	0													36	39	38					4																	71394916		2187	4275	6462	SO:0001583	missense	401138			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.346T>C	4.37:g.71394916T>C	ENSP00000341013:p.Ser116Pro		Q0P503|Q0P506	Missense_Mutation	SNP	NULL	p.S116P	ENST00000339336.4	37	c.346	CCDS3542.1	4	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503925	0.64410	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.64618	-0.11;-0.11	5.31	5.31	0.75309	.	0.000000	0.47093	D	0.000256	T	0.69052	0.3068	L	0.32530	0.975	0.34939	D	0.750133	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78250	-0.2277	10	0.87932	D	0	-22.9192	11.9392	0.52890	0.0:0.0:0.0:1.0	.	115;116	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	P	116;115	ENSP00000341013:S116P;ENSP00000422452:S115P	ENSP00000341013:S116P	S	+	1	0	AMTN	71429505	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.807000	0.55591	2.135000	0.66039	0.383000	0.25322	TCA	AMTN	-	NULL		0.264	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMTN	HGNC	protein_coding	OTTHUMT00000252157.1	T	NM_212557		71394916	1	no_errors	ENST00000339336	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71394916	T	C	71394916	3	2	131	1	0	0	0	0	1	0	0	0	590	1551	54	5	368	5	AMTN	4	71394916	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1033430	71394916	119759360	517	20657										
RUFY3	22902	genome.wustl.edu	37	chr4	71656969	71656969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatttggtgaaacaggcaaaGaccttaaatagtgcagcaaa	10	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:71656969G>T	ENST00000226328.4	+	13	1928	c.1365G>T	c.(1363-1365)aaG>aaT	p.K455N	RUFY3_ENST00000536664.1_Missense_Mutation_p.K439N|RUFY3_ENST00000502653.1_Intron|RUFY3_ENST00000381006.3_Intron	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	455					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AACAGGCAAAGACCTTAAATA	0.333																																																	0													108	101	103					4																	71656969		2203	4300	6503	SO:0001583	missense	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1365G>T	4.37:g.71656969G>T	ENSP00000226328:p.Lys455Asn		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.K455N	ENST00000226328.4	37	c.1365	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105295	0.37145	.	.	ENSG00000018189	ENST00000226328;ENST00000536664	T;T	0.14391	2.51;2.51	5.77	2.81	0.32909	.	.	.	.	.	T	0.03263	0.0095	N	0.00707	-1.245	0.28079	N	0.932251	P;B	0.34462	0.454;0.281	B;B	0.29785	0.107;0.057	T	0.29488	-1.0010	9	0.25106	T	0.35	.	5.9797	0.19401	0.5138:0.0:0.4862:0.0	.	439;455	B4DKC2;Q7L099	.;RUFY3_HUMAN	N	455;439	ENSP00000226328:K455N;ENSP00000443652:K439N	ENSP00000226328:K455N	K	+	3	2	RUFY3	71875833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.547000	0.45786	0.712000	0.32039	0.650000	0.86243	AAG	RUFY3	-	superfamily_Prefoldin		0.333	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	G	NM_014961		71656969	1	no_errors	ENST00000226328	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71656969	G	T	71656969	3	4	131	1	0	0	0	0	1	0	0	0	13770	933	33	3	1781	3	RUFY3	4	71656969	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	262053	71656969	119497307	518	20658										
SLC4A4	8671	genome.wustl.edu	37	chr4	72102354	72102354	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaagcatgtgtgtgatgaaGaagaagtagaaggtgagctt	14	3	1	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:72102354G>T	ENST00000264485.5	+	2	178	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.E21*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.E21*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	21					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTGTGATGAAGAAGAAGTAGA	0.378																																																	0													111	116	114					4																	72102354		1887	4116	6003	SO:0001587	stop_gained	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.61G>T	4.37:g.72102354G>T	ENSP00000264485:p.Glu21*		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E21*	ENST00000264485.5	37	c.61	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.465011	0.97590	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	.	.	.	5.82	5.82	0.92795	.	0.092569	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000264485:E21X	E	+	1	0	SLC4A4	72321218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.760000	0.94817	0.655000	0.94253	GAA	SLC4A4	-	NULL		0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72102354	1	no_errors	ENST00000425175	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	72102354	G	T	72102354	4	4	131	1	0	0	0	0	0	1	0	0	14686	943	33	3	63	3	SLC4A4	4	72102354	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	445385	72102354	119051922	519	20659										
ADAMTS3	9508	genome.wustl.edu	37	chr4	73148890	73148890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgatcttgtcggacgtctgTtgtcaatgatctttccatct	8	9	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:73148890T>C	ENST00000286657.4	-	22	3617	c.3581A>G	c.(3580-3582)aAc>aGc	p.N1194S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1194					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGACGTCTGTTGTCAATGAT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)												0													155	142	147					4																	73148890		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3581A>G	4.37:g.73148890T>C	ENSP00000286657:p.Asn1194Ser		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N1194S	ENST00000286657.4	37	c.3581	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	2.762	-0.257578	0.05791	.	.	ENSG00000156140	ENST00000286657	T	0.60424	0.19	5.42	0.442	0.16582	.	0.462231	0.19808	N	0.105586	T	0.30541	0.0768	N	0.08118	0	0.20873	N	0.999839	B	0.06786	0.001	B	0.06405	0.002	T	0.18241	-1.0343	10	0.15952	T	0.53	.	9.4766	0.38875	0.0:0.3701:0.0:0.6299	.	1194	O15072	ATS3_HUMAN	S	1194	ENSP00000286657:N1194S	ENSP00000286657:N1194S	N	-	2	0	ADAMTS3	73367754	0.973000	0.33851	0.359000	0.25824	0.015000	0.08874	0.400000	0.20932	0.072000	0.16694	-0.376000	0.06991	AAC	ADAMTS3	-	NULL		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	T			73148890	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	0.928	C	C	73148890	T	C	73148890	3	2	131	1	0	0	0	0	1	0	0	0	267	1725	60	5	40	5	ADAMTS3	4	73148890	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1046536	73148890	118005386	520	20660										
CDKL2	8999	genome.wustl.edu	37	chr4	76523295	76523295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttctttcttcaactaagGaatcatctttttctttttcc	2	9	6	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:76523295G>A	ENST00000429927.2	-	8	1689	c.986C>T	c.(985-987)tCc>tTc	p.S329F	CDKL2_ENST00000307465.4_Missense_Mutation_p.S329F	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	329					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAACTAAGGAATCATCTTT	0.259																																																	0																																										SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.986C>T	4.37:g.76523295G>A	ENSP00000412365:p.Ser329Phe		B2R695	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.S329F	ENST00000429927.2	37	c.986	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199150	0.38806	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72167	-0.6;-0.63	4.18	3.3	0.37823	.	.	.	.	.	T	0.59932	0.2230	L	0.27053	0.805	0.24646	N	0.993541	B;B	0.32010	0.257;0.351	B;B	0.34991	0.1;0.193	T	0.55016	-0.8206	9	0.54805	T	0.06	-4.0502	11.768	0.51941	0.0:0.1795:0.8205:0.0	.	329;329	B4DH08;Q92772	.;CDKL2_HUMAN	F	329	ENSP00000412365:S329F;ENSP00000306340:S329F	ENSP00000306340:S329F	S	-	2	0	CDKL2	76742319	0.004000	0.15560	0.980000	0.43619	0.915000	0.54546	0.774000	0.26675	1.046000	0.40249	0.563000	0.77884	TCC	CDKL2	-	NULL		0.259	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	G	NM_003948		76523295	-1	no_errors	ENST00000429927	ensembl	human	known	70_37	missense	SNP	0.998	A	A	76523295	G	A	76523295	3	1	131	1	0	0	0	0	1	0	0	0	3159	1174	41	1	511	1	CDKL2	4	76523295	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3374405	76523295	114630981	521	20661										
PPEF2	5470	genome.wustl.edu	37	chr4	76797520	76797520	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggctgagcgggagggctcctCtttctctccggtcaccagga	14	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:76797520C>A	ENST00000286719.7	-	11	1596	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	414	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGGGCTCCTCTTTCTCTCCG	0.682																																					NSCLC(105;1359 1603 15961 44567 47947)												0													32	36	34					4																	76797520		2203	4300	6503	SO:0001587	stop_gained	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1240G>T	4.37:g.76797520C>A	ENSP00000286719:p.Glu414*		O14831	Nonsense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase	p.E414*	ENST00000286719.7	37	c.1240	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.338075	0.97485	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	4.58	1.69	0.24217	.	1.198740	0.06091	N	0.663609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.4802	5.0192	0.14352	0.0:0.5795:0.2207:0.1998	.	.	.	.	X	414	.	ENSP00000286719:E414X	E	-	1	0	PPEF2	77016544	0.008000	0.16893	0.002000	0.10522	0.008000	0.06430	-0.062000	0.11674	0.054000	0.16065	0.491000	0.48974	GAG	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.682	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	C	NM_006239		76797520	-1	no_errors	ENST00000286719	ensembl	human	known	70_37	nonsense	SNP	0.016	A	A	76797520	C	A	76797520	4	1	131	1	0	0	0	0	0	1	0	0	12332	922	32	3	1049	3	PPEF2	4	76797520	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	274225	76797520	114356756	522	20662										
SCARB2	950	genome.wustl.edu	37	chr4	77095431	77095431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaggcaggcagtccctgtAcactctcatagtcactgaaa	9	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:77095431A>G	ENST00000264896.2	-	7	1209	c.860T>C	c.(859-861)gTa>gCa	p.V287A	SCARB2_ENST00000452464.2_Missense_Mutation_p.V144A	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	287					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CAGTCCCTGTACACTCTCATA	0.453																																																	0													112	102	105					4																	77095431		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.860T>C	4.37:g.77095431A>G	ENSP00000264896:p.Val287Ala		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.V287A	ENST00000264896.2	37	c.860	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353923	0.82243	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	.	0.174318	0.50627	D	0.000114	T	0.80819	0.4696	M	0.73319	2.225	0.53688	D	0.999975	P;P	0.43024	0.466;0.798	P;P	0.49922	0.472;0.626	T	0.83052	-0.0152	10	0.72032	D	0.01	.	14.7999	0.69906	1.0:0.0:0.0:0.0	.	144;287	E7EM68;Q14108	.;SCRB2_HUMAN	A	287;144	ENSP00000264896:V287A;ENSP00000399154:V144A	ENSP00000264896:V287A	V	-	2	0	SCARB2	77314455	1.000000	0.71417	0.032000	0.17829	0.646000	0.38490	8.624000	0.90961	2.151000	0.67156	0.533000	0.62120	GTA	SCARB2	-	pfam_CD36		0.453	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	A	NM_005506		77095431	-1	no_errors	ENST00000264896	ensembl	human	known	70_37	missense	SNP	0.902	G	G	77095431	A	G	77095431	3	3	131	1	0	0	0	0	1	0	0	0	13912	391	14	5	600	5	SCARB2	4	77095431	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	297911	77095431	114058845	523	20663										
SHROOM3	57619	genome.wustl.edu	37	chr4	77660882	77660882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccattgatgagaatgggaAccagaatggatctggcaggc	13	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:77660882A>C	ENST00000296043.6	+	5	2509	c.1556A>C	c.(1555-1557)aAc>aCc	p.N519T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	519					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGAATGGGAACCAGAATGGA	0.522																																																	0													127	128	127					4																	77660882		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1556A>C	4.37:g.77660882A>C	ENSP00000296043:p.Asn519Thr		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N519T	ENST00000296043.6	37	c.1556	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817625	0.50633	.	.	ENSG00000138771	ENST00000296043	T	0.23754	1.89	5.07	5.07	0.68467	.	0.163888	0.42053	D	0.000774	T	0.45357	0.1338	M	0.67953	2.075	0.36465	D	0.8669	P;D;D	0.89917	0.806;1.0;1.0	B;D;D	0.69307	0.201;0.963;0.946	T	0.53648	-0.8409	10	0.44086	T	0.13	-38.1778	11.0675	0.47985	0.845:0.155:0.0:0.0	.	343;519;297	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	T	519	ENSP00000296043:N519T	ENSP00000296043:N519T	N	+	2	0	SHROOM3	77879906	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	2.139000	0.42149	2.120000	0.65058	0.460000	0.39030	AAC	SHROOM3	-	NULL		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	A	NM_020859		77660882	1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77660882	A	C	77660882	3	2	131	1	0	0	0	0	1	0	0	0	14325	43	2	5	1574	5	SHROOM3	4	77660882	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	565451	77660882	113493394	524	20664										
GK2	2712	genome.wustl.edu	37	chr4	80328137	80328137	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggttcatggcttccaaaatCtctcgggtttggaaacaaac	9	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:80328137C>A	ENST00000358842.3	-	1	1235	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTCCAAAATCTCTCGGGTTT	0.443																																																	0													122	115	118					4																	80328137		2203	4300	6503	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1218G>T	4.37:g.80328137C>A	ENSP00000351706:p.Glu406Asp		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.E406D	ENST00000358842.3	37	c.1218	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468398	0.26335	.	.	ENSG00000196475	ENST00000358842	D	0.84516	-1.86	4.04	2.32	0.28847	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	N	0.00972	-1.085	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.02654	T	1	-11.7393	6.2398	0.20785	0.0:0.7768:0.0:0.2232	.	406	Q14410	GLPK2_HUMAN	D	406	ENSP00000351706:E406D	ENSP00000351706:E406D	E	-	3	2	GK2	80547161	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.101000	0.41787	0.686000	0.31488	-0.225000	0.12378	GAG	GK2	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin		0.443	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	C	NM_033214		80328137	-1	no_errors	ENST00000358842	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80328137	C	A	80328137	3	1	131	1	0	0	0	0	1	0	0	0	6440	912	32	3	447	3	GK2	4	80328137	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2667255	80328137	110826139	525	20665										
PRKG2	5593	genome.wustl.edu	37	chr4	82056359	82056359	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taagttttctggtttcaagtCtctgtagataatacctagtc	7	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:82056359C>A	ENST00000395578.1	-	14	1842	c.1726G>T	c.(1726-1728)Gac>Tac	p.D576Y	PRKG2_ENST00000418486.2_Missense_Mutation_p.D547Y|PRKG2_ENST00000545647.1_Missense_Mutation_p.D156Y|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.D576Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTTTCAAGTCTCTGTAGATA	0.413																																																	0													135	131	132					4																	82056359		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1726G>T	4.37:g.82056359C>A	ENSP00000378945:p.Asp576Tyr		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.D576Y	ENST00000395578.1	37	c.1726	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656811	0.67586	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99285	1.0897	10	0.87932	D	0	-32.6741	19.5855	0.95488	0.0:1.0:0.0:0.0	.	547;576	E7EPE6;Q13237	.;KGP2_HUMAN	Y	576;576;547;156	ENSP00000378945:D576Y;ENSP00000264399:D576Y;ENSP00000389038:D547Y;ENSP00000439967:D156Y	ENSP00000264399:D576Y	D	-	1	0	PRKG2	82275383	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.764000	0.85297	2.720000	0.93068	0.650000	0.86243	GAC	PRKG2	-	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,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom		0.413	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82056359	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82056359	C	A	82056359	3	1	131	1	0	0	0	0	1	0	0	0	12550	913	32	3	586	3	PRKG2	4	82056359	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1728222	82056359	109097917	526	20666										
SEC31A	22872	genome.wustl.edu	37	chr4	83787987	83787987	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaagcaccaacaggccttcGaatccacttgggcggcttct	10	13	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:83787987G>A	ENST00000395310.2	-	10	1353	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*	SEC31A_ENST00000355196.2_Nonsense_Mutation_p.R391*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.R391*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.R391*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.R391*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.R163*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.R386*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.R391*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.R391*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	391	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGGCCTTCGAATCCACTTG	0.458																																																	0													126	133	131					4																	83787987		2203	4300	6503	SO:0001587	stop_gained	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1171C>T	4.37:g.83787987G>A	ENSP00000378721:p.Arg391*		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R391*	ENST00000395310.2	37	c.1171	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.165483|8.165483	0.98686|0.98686	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479|ENST00000507828	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.121111|.	0.56097|.	D|.	0.000022|.	.|T	.|0.74756	.|0.3758	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73902	.|-0.3836	.|3	0.02654|.	T|.	1|.	-13.2111|-13.2111	18.7833|18.7833	0.91944|0.91944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	391;391;391;386;391;391;391;391;391;391;391;391;391;163;391;391|33	.|.	ENSP00000264405:R163X|.	R|S	-|-	1|2	2|0	SEC31A|SEC31A	84007011|84007011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	5.691000|5.691000	0.68249|0.68249	2.499000|2.499000	0.84300|0.84300	0.573000|0.573000	0.79308|0.79308	CGA|TCG	SEC31A	-	NULL		0.458	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83787987	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	83787987	G	A	83787987	4	1	131	1	0	0	0	0	0	1	0	0	14028	1066	37	1	2563	1	SEC31A	4	83787987	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1731628	83787987	107366289	527	20667										
THAP9	79725	genome.wustl.edu	37	chr4	83838284	83838284	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggggtttatggactttggtCttggaaaacttgatgctgat	13	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:83838284C>T	ENST00000302236.5	+	5	970	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	307					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGACTTTGGTCTTGGAAAACT	0.408																																																	0													142	131	135					4																	83838284		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.919C>T	4.37:g.83838284C>T	ENSP00000305533:p.Leu307Phe		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L307F	ENST00000302236.5	37	c.919	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492494	0.12702	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.37915	1.17	3.7	2.84	0.33178	.	0.469245	0.15977	N	0.235485	T	0.30885	0.0779	L	0.40543	1.245	0.58432	D	0.999997	P	0.44090	0.826	B	0.44315	0.446	T	0.06409	-1.0828	10	0.52906	T	0.07	-17.4675	6.7412	0.23437	0.1902:0.5934:0.2164:0.0	.	307	Q9H5L6	THAP9_HUMAN	F	307	ENSP00000305533:L307F	ENSP00000305533:L307F	L	+	1	0	THAP9	84057308	1.000000	0.71417	0.923000	0.36655	0.658000	0.38924	2.050000	0.41297	1.124000	0.41980	0.650000	0.86243	CTT	THAP9	-	NULL		0.408	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	C	NM_024672		83838284	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.866	T	T	83838284	C	T	83838284	3	4	131	1	0	0	0	0	1	0	0	0	15881	913	32	1	937	1	THAP9	4	83838284	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	50297	83838284	107315992	528	20668										
WDFY3	23001	genome.wustl.edu	37	chr4	85594031	85594031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttgaatcttcaacaatttCgaggcccatcttctgaacct	6	11	4	2	rs199672909		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85594031C>T	ENST00000295888.4	-	68	10978	c.10571G>A	c.(10570-10572)cGa>cAa	p.R3524Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R3507Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3524	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R3524Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAACAATTTCGAGGCCCATC	0.458																																																	1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	0,4406		0,0,2203	137	131	133		10571	3.6	1	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDFY3	NM_014991.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3524/3527	85594031	1,13005	2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10571G>A	4.37:g.85594031C>T	ENSP00000295888:p.Arg3524Gln		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R3524Q	ENST00000295888.4	37	c.10571	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124146	0.56613	0.0	1.16E-4	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.29	5.76	3.64	0.41730	.	0.060203	0.64402	D	0.000005	T	0.52468	0.1736	N	0.22421	0.69	0.41127	D	0.985856	B	0.10296	0.003	B	0.04013	0.001	T	0.54207	-0.8328	10	0.66056	D	0.02	.	13.157	0.59522	0.0:0.8554:0.0:0.1446	.	3524	Q8IZQ1	WDFY3_HUMAN	Q	3507;3524	ENSP00000318466:R3507Q;ENSP00000295888:R3524Q	ENSP00000295888:R3524Q	R	-	2	0	WDFY3	85813055	1.000000	0.71417	0.954000	0.39281	0.995000	0.86356	3.497000	0.53295	1.366000	0.46076	0.655000	0.94253	CGA	WDFY3	-	NULL		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85594031	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	0.977	T	T	85594031	C	T	85594031	3	4	131	1	0	0	0	0	1	0	0	0	17301	884	31	1	13	1	WDFY3	4	85594031	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1755747	85594031	105560245	529	20669										
WDFY3	23001	genome.wustl.edu	37	chr4	85623529	85623529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatcaaagttgttggaattgAacaggaattctggtaaataa	10	3	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85623529A>G	ENST00000295888.4	-	56	8980	c.8573T>C	c.(8572-8574)tTc>tCc	p.F2858S	WDFY3_ENST00000322366.6_Missense_Mutation_p.F2841S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2858	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTGGAATTGAACAGGAATTC	0.403																																																	0													104	111	109					4																	85623529		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8573T>C	4.37:g.85623529A>G	ENSP00000295888:p.Phe2858Ser		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F2858S	ENST00000295888.4	37	c.8573	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297056	0.40694	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.79141	-1.24;-1.24;-1.24	5.86	5.86	0.93980	BEACH domain (4);	0.052828	0.85682	D	0.000000	T	0.54062	0.1835	N	0.02247	-0.625	0.48830	D	0.99971	B	0.02656	0.0	B	0.01281	0.0	T	0.55704	-0.8099	10	0.10111	T	0.7	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	2858	Q8IZQ1	WDFY3_HUMAN	S	2841;2858;461	ENSP00000318466:F2841S;ENSP00000295888:F2858S;ENSP00000424987:F461S	ENSP00000295888:F2858S	F	-	2	0	WDFY3	85842553	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.323000	0.79105	2.237000	0.73441	0.528000	0.53228	TTC	WDFY3	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	A	NM_014991		85623529	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85623529	A	G	85623529	3	3	131	1	0	0	0	0	1	0	0	0	17301	246	9	5	2059	5	WDFY3	4	85623529	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	29498	85623529	105530747	530	20670										
WDFY3	23001	genome.wustl.edu	37	chr4	85696122	85696122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctctcattaatttggcattCtttgaggcttcactataaga	6	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85696122C>A	ENST00000295888.4	-	29	5012	c.4605G>T	c.(4603-4605)aaG>aaT	p.K1535N	WDFY3_ENST00000322366.6_Missense_Mutation_p.K1535N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1535					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.K1535N(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTTGGCATTCTTTGAGGCTT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											115	124	121					4																	85696122		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4605G>T	4.37:g.85696122C>A	ENSP00000295888:p.Lys1535Asn		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1535N	ENST00000295888.4	37	c.4605	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622178	0.28889	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.49432	0.78;0.78	5.33	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.12837	0.008	T	0.07751	-1.0756	10	0.24483	T	0.36	.	11.2267	0.48888	0.0:0.8553:0.0:0.1447	.	1535	Q8IZQ1	WDFY3_HUMAN	N	1535	ENSP00000318466:K1535N;ENSP00000295888:K1535N	ENSP00000295888:K1535N	K	-	3	2	WDFY3	85915146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.000000	0.40816	2.650000	0.89964	0.655000	0.94253	AAG	WDFY3	-	NULL		0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85696122	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85696122	C	A	85696122	3	1	131	1	0	0	0	0	1	0	0	0	17301	912	32	3	6135	3	WDFY3	4	85696122	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	72593	85696122	105458154	531	20671										
PTPN13	5783	genome.wustl.edu	37	chr4	87731118	87731118	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catagatgtggttctgggatTaatcagtcaggatcttgatg	12	5	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:87731118T>G	ENST00000411767.2	+	46	7343	c.7280T>G	c.(7279-7281)tTa>tGa	p.L2427*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.L2236*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.L2432*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.L2408*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.L2432*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2427	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTTCTGGGATTAATCAGTCAG	0.413																																																	0													78	71	74					4																	87731118		1906	4138	6044	SO:0001587	stop_gained	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7280T>G	4.37:g.87731118T>G	ENSP00000407249:p.Leu2427*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L2432*	ENST00000411767.2	37	c.7295	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	T	50	16.902687	0.99874	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.08	5.08	0.68730	.	0.000000	0.36002	N	0.002857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1369	0.72576	0.0:0.0:0.0:1.0	.	.	.	.	X	2408;2432;2236;2427;2432;2376	.	ENSP00000322675:L2236X	L	+	2	0	PTPN13	87950142	0.972000	0.33761	0.829000	0.32907	0.943000	0.58893	5.894000	0.69806	2.031000	0.59945	0.533000	0.62120	TTA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	T			87731118	1	no_errors	ENST00000436978	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	87731118	T	G	87731118	4	3	131	1	0	0	0	0	0	1	0	0	12810	1764	61	5	7473	5	PTPN13	4	87731118	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2034996	87731118	103423158	532	20672										
C4orf36	132989	genome.wustl.edu	37	chr4	87809014	87809014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacttcagtttacaaagacGcttcacttcatactcccttt	3	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:87809014G>A	ENST00000473559.1	-	7	916	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	C4orf36_ENST00000503001.1_5'Flank|C4orf36_ENST00000295898.3_Missense_Mutation_p.R85C			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	85										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		TTACAAAGACGCTTCACTTCA	0.378																																																	0													90	84	86					4																	87809014		2203	4300	6503	SO:0001583	missense	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.253C>T	4.37:g.87809014G>A	ENSP00000420949:p.Arg85Cys			Missense_Mutation	SNP	NULL	p.R85C	ENST00000473559.1	37	c.253	CCDS3615.1	4	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453296	0.63290	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308	T;T;T	0.43688	0.94;0.94;0.94	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000023	T	0.53400	0.1794	L	0.32530	0.975	0.52501	D	0.999951	D	0.89917	1.0	D	0.97110	1.0	T	0.54853	-0.8231	10	0.87932	D	0	-10.908	14.1752	0.65537	0.0:0.0:1.0:0.0	.	85	Q96KX1	CD036_HUMAN	C	85	ENSP00000295898:R85C;ENSP00000420949:R85C;ENSP00000421141:R85C	ENSP00000295898:R85C	R	-	1	0	C4orf36	88028038	0.995000	0.38212	1.000000	0.80357	0.340000	0.28889	2.772000	0.47678	2.724000	0.93272	0.561000	0.74099	CGT	C4orf36	-	NULL		0.378	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	G	NM_144645		87809014	-1	no_errors	ENST00000295898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87809014	G	A	87809014	3	1	131	1	0	0	0	0	1	0	0	0	2271	1087	38	2	104	2	C4orf36	4	87809014	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	77896	87809014	103345262	533	20673										
DSPP	1834	genome.wustl.edu	37	chr4	88534422	88534422	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagaaaatagaatcaccaaaGaatcagagacacatgctgtt	7	7	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:88534422G>T	ENST00000282478.7	+	3	1117	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Nonsense_Mutation_p.E362*			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	362					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AATCACCAAAGAATCAGAGAC	0.408																																																	0													39	38	38					4																	88534422		1857	4025	5882	SO:0001587	stop_gained	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1084G>T	4.37:g.88534422G>T	ENSP00000282478:p.Glu362*		A8MUI0|O95815	Nonsense_Mutation	SNP	NULL	p.E362*	ENST00000282478.7	37	c.1084	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.163447	0.94727	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	.	.	.	4.77	0.584	0.17422	.	1.292120	0.06022	N	0.651551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.0506	8.582	0.33634	0.0969:0.4191:0.484:0.0	.	.	.	.	X	362	.	ENSP00000282478:E362X	E	+	1	0	DSPP	88753446	0.001000	0.12720	0.000000	0.03702	0.450000	0.32258	0.799000	0.27028	-0.129000	0.11620	0.557000	0.71058	GAA	DSPP	-	NULL		0.408	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	G	NM_014208		88534422	1	no_errors	ENST00000282478	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	88534422	G	T	88534422	4	4	131	1	0	0	0	0	0	1	0	0	4792	943	33	3	1094	3	DSPP	4	88534422	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	725408	88534422	102619854	534	20674										
HERC6	55008	genome.wustl.edu	37	chr4	89304372	89304372	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttttgttttgtttcccaaaGaaccaattcaggcattggaa	8	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:89304372G>T	ENST00000264346.7	+	2	258		c.e2-1		HERC6_ENST00000380265.5_Splice_Site|HERC6_ENST00000273960.3_Splice_Site	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6						hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTTTCCCAAAGAACCAATTCA	0.458																																																	0													34	34	34					4																	89304372		1870	4103	5973	SO:0001630	splice_region_variant	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.200-1G>T	4.37:g.89304372G>T			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Splice_Site	SNP	-	e2-1	ENST00000264346.7	37	c.200-1	CCDS47098.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.159400|3.159400	0.57368|0.57368	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	.|T	.|0.79940	.|-1.32	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	.|D	.|0.87665	.|0.6234	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.89092	.|0.3483	.|6	.|0.66056	.|D	.|0.02	.|.	16.6188|16.6188	0.84924|0.84924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|31	.|ENSP00000425060:K31N	.|ENSP00000425060:K31N	.|K	+|+	.|3	.|2	HERC6|HERC6	89523395|89523395	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.645000|0.645000	0.38454|0.38454	8.007000|8.007000	0.88571|0.88571	2.455000|2.455000	0.83008|0.83008	0.485000|0.485000	0.47835|0.47835	.|AAG	HERC6	-	-		0.458	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	G		Intron	89304372	1	no_errors	ENST00000264346	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	89304372	G	T	89304372	5	4	131	1	0	0	0	0	0	0	1	0	7082	956	33	3	2	3	HERC6	4	89304372	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	769950	89304372	101849904	535	20675										
PPP3CA	5530	genome.wustl.edu	37	chr4	102004359	102004359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaccctgcatcttgggcttCgtgggctcggagtatagata	12	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:102004359C>T	ENST00000394854.3	-	7	1527	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.E282K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E215K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E282K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E184K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	282	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCTTGGGCTTCGTGGGCTCGG	0.443																																																	0													276	289	285					4																	102004359		2203	4300	6503	SO:0001583	missense	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.844G>A	4.37:g.102004359C>T	ENSP00000378323:p.Glu282Lys		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.E282K	ENST00000394854.3	37	c.844	CCDS34037.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.512400	0.96402	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	5.32	5.32	0.75619	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.059202	0.64402	D	0.000003	T	0.44286	0.1286	H	0.98612	4.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.986;0.986;0.995;0.985;0.985	T	0.67952	-0.5537	10	0.87932	D	0	-7.76	19.0217	0.92917	0.0:1.0:0.0:0.0	.	282;282;282;184;215	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	K	282;282;282;184;215	ENSP00000378323:E282K;ENSP00000320580:E282K;ENSP00000378322:E282K;ENSP00000422990:E184K;ENSP00000429350:E215K	ENSP00000320580:E282K	E	-	1	0	PPP3CA	102223382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.297000	0.78799	2.480000	0.83734	0.655000	0.94253	GAA	PPP3CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.443	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	C	NM_000944		102004359	-1	no_errors	ENST00000394854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102004359	C	T	102004359	3	4	131	1	0	0	0	0	1	0	0	0	12424	893	31	1	753	1	PPP3CA	4	102004359	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	12699987	102004359	89149917	536	20676										
BANK1	55024	genome.wustl.edu	37	chr4	102839164	102839164	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttacagatactcatttcaaaGaacttccaactcttctccac	2	13	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:102839164G>T	ENST00000322953.4	+	7	1298	c.1024G>T	c.(1024-1026)Gaa>Taa	p.E342*	BANK1_ENST00000508653.1_Nonsense_Mutation_p.E209*|BANK1_ENST00000504592.1_Nonsense_Mutation_p.E327*|BANK1_ENST00000428908.1_Nonsense_Mutation_p.E209*|BANK1_ENST00000444316.2_Nonsense_Mutation_p.E312*	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	342					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCATTTCAAAGAACTTCCAAC	0.363																																																	0													93	91	92					4																	102839164		2203	4300	6503	SO:0001587	stop_gained	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1024G>T	4.37:g.102839164G>T	ENSP00000320509:p.Glu342*		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E342*	ENST00000322953.4	37	c.1024	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.036879	0.97226	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	.	.	.	4.65	4.65	0.58169	.	0.237376	0.32518	N	0.005994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0899	0.72185	0.0:0.0:1.0:0.0	.	.	.	.	X	327;342;209;209;312	.	ENSP00000320509:E342X	E	+	1	0	BANK1	103058187	1.000000	0.71417	0.544000	0.28141	0.720000	0.41350	3.716000	0.54904	2.404000	0.81709	0.650000	0.86243	GAA	BANK1	-	NULL		0.363	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	G	NM_017935		102839164	1	no_errors	ENST00000322953	ensembl	human	known	70_37	nonsense	SNP	0.964	T	T	102839164	G	T	102839164	4	4	131	1	0	0	0	0	0	1	0	0	1310	943	33	3	1050	3	BANK1	4	102839164	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	834805	102839164	88315112	537	20677										
PAPSS1	9061	genome.wustl.edu	37	chr4	108615047	108615047	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaggactaaagccaagattTttattgagaccttgacgaat	8	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:108615047T>G	ENST00000265174.4	-	3	563	c.291A>C	c.(289-291)aaA>aaC	p.K97N	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	97					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGCCAAGATTTTTATTGAGAC	0.443																																																	0													137	123	128					4																	108615047		2203	4300	6503	SO:0001583	missense	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.291A>C	4.37:g.108615047T>G	ENSP00000265174:p.Lys97Asn		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.K97N	ENST00000265174.4	37	c.291	CCDS3676.1	4	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815587	0.70912	.	.	ENSG00000138801	ENST00000265174	T	0.79247	-1.25	5.67	-5.89	0.02282	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.83312	2.635	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	D	0.86724	0.1944	10	0.72032	D	0.01	-30.1002	16.952	0.86248	0.0:0.6098:0.0:0.3902	.	97	O43252	PAPS1_HUMAN	N	97	ENSP00000265174:K97N	ENSP00000265174:K97N	K	-	3	2	PAPSS1	108834496	0.019000	0.18553	0.894000	0.35097	0.998000	0.95712	-0.848000	0.04326	-1.140000	0.02877	0.454000	0.30748	AAA	PAPSS1	-	pfam_APS_kinase,tigrfam_APS_kinase		0.443	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS1	HGNC	protein_coding	OTTHUMT00000253946.2	T			108615047	-1	no_errors	ENST00000265174	ensembl	human	known	70_37	missense	SNP	0.836	G	G	108615047	T	G	108615047	3	3	131	1	0	0	0	0	1	0	0	0	11458	1838	64	5	1623	5	PAPSS1	4	108615047	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5775883	108615047	82539229	538	20678										
AGXT2L1	64850	genome.wustl.edu	37	chr4	109667588	109667588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcaagttggtccaccatgaActttgcatcttcttcagtga	7	10	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:109667588A>G	ENST00000296486.3	-	11	1424	c.1270T>C	c.(1270-1272)Ttc>Ctc	p.F424L	ETNPPL_ENST00000510706.1_Missense_Mutation_p.F384L|ETNPPL_ENST00000411864.2_Missense_Mutation_p.F418L|ETNPPL_ENST00000512646.1_Missense_Mutation_p.F366L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	424						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCCACCATGAACTTTGCATCT	0.438																																																	0													120	107	111					4																	109667588		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1270T>C	4.37:g.109667588A>G	ENSP00000296486:p.Phe424Leu		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F424L	ENST00000296486.3	37	c.1270	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	A	3.148	-0.174770	0.06421	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.03	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.379771	0.29814	N	0.011140	T	0.29914	0.0748	L	0.41124	1.26	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.17531	-1.0366	9	.	.	.	-4.2998	7.1921	0.25831	0.7381:0.0:0.2619:0.0	.	366;418;424	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	L	424;418;366;384	ENSP00000296486:F424L;ENSP00000392269:F418L;ENSP00000427065:F366L;ENSP00000423240:F384L	.	F	-	1	0	AGXT2L1	109887037	1.000000	0.71417	0.064000	0.19789	0.673000	0.39480	3.481000	0.53179	0.765000	0.33221	0.528000	0.53228	TTC	AGXT2L1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.438	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	A	NM_031279		109667588	-1	no_errors	ENST00000296486	ensembl	human	known	70_37	missense	SNP	0.040	G	G	109667588	A	G	109667588	3	3	131	1	0	0	0	0	1	0	0	0	406	43	2	5	241	5	AGXT2L1	4	109667588	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1052541	109667588	81486688	539	20679										
COL25A1	84570	genome.wustl.edu	37	chr4	109767295	109767295	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacagaaagtataaacatacCggtaatccaggaagtccaat	7	8	0	1	rs371922822		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:109767295C>T	ENST00000399132.1	-	28	2045	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	COL25A1_ENST00000399127.1_Splice_Site_p.P478P|COL25A1_ENST00000399126.1_Splice_Site_p.P505P	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.P505P(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATAAACATACCGGTAATCCAG	0.343																																																	2	Substitution - coding silent(2)	lung(2)						C	,	1,3645		0,1,1822	108	101	103		1515,1515	4.4	1	4		103	0,8144		0,0,4072	no	coding-synonymous-near-splice,coding-synonymous-near-splice	COL25A1	NM_032518.2,NM_198721.1	,	0,1,5894	TT,TC,CC		0.0,0.0274,0.0085	,	505/643,505/655	109767295	1,11789	1823	4072	5895	SO:0001630	splice_region_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1515+1G>A	4.37:g.109767295C>T				Silent	SNP	pfam_Collagen	p.P505	ENST00000399132.1	37	c.1515	CCDS43258.1	4																																																																																			COL25A1	-	NULL		0.343	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	C	NM_032518	Silent	109767295	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109767295	C	T	109767295	5	4	131	1	0	0	0	0	0	0	1	0	3689	666	23	2	577	2	COL25A1	4	109767295	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	99707	109767295	81386981	540	20680										
SEC24B	10427	genome.wustl.edu	37	chr4	110415812	110415812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagtcctgctcctgatcccGcccctgaacctgatcctgct	8	18	0	3	rs374227762		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:110415812G>A	ENST00000265175.5	+	6	1343	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	SEC24B_ENST00000504968.2_Missense_Mutation_p.A461T|SEC24B_ENST00000399100.2_Missense_Mutation_p.A395T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	430					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TCCTGATCCCGCCCCTGAACC	0.483																																																	0								G	THR/ALA,THR/ALA	0,4298		0,0,2149	99	108	105		1183,1288	1.7	0	4		105	3,8583		0,3,4290	no	missense,missense	SEC24B	NM_001042734.1,NM_006323.2	58,58	0,3,6439	AA,AG,GG		0.0349,0.0,0.0233	benign,benign	395/1234,430/1269	110415812	3,12881	2149	4293	6442	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1288G>A	4.37:g.110415812G>A	ENSP00000265175:p.Ala430Thr		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.A430T	ENST00000265175.5	37	c.1288	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	1.460	-0.562615	0.03939	0.0	3.49E-4	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.78707	-1.04;-1.2;-1.2	5.8	1.73	0.24493	.	1.112980	0.07013	N	0.825531	T	0.59959	0.2232	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.12013	0.003;0.003;0.003;0.005;0.003	B;B;B;B;B	0.11329	0.003;0.003;0.003;0.006;0.003	T	0.41466	-0.9507	10	0.08837	T	0.75	-0.0273	1.6906	0.02851	0.1771:0.1357:0.4877:0.1994	.	345;29;461;395;430	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	461;395;430	ENSP00000428564:A461T;ENSP00000382051:A395T;ENSP00000265175:A430T	ENSP00000265175:A430T	A	+	1	0	SEC24B	110635261	0.001000	0.12720	0.002000	0.10522	0.086000	0.17979	0.483000	0.22292	0.369000	0.24510	-0.897000	0.02905	GCC	SEC24B	-	NULL		0.483	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	G			110415812	1	no_errors	ENST00000265175	ensembl	human	known	70_37	missense	SNP	0.002	A	A	110415812	G	A	110415812	3	1	131	1	0	0	0	0	1	0	0	0	14025	1087	38	2	1310	2	SEC24B	4	110415812	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	648517	110415812	80738464	541	20681										
CASP6	839	genome.wustl.edu	37	chr4	110617577	110617577	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actacctaccctcatgaattTtgagcagtagttcttctgct	6	11	3	2	rs377529968		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:110617577T>G	ENST00000265164.2	-	4	373	c.296A>C	c.(295-297)aAa>aCa	p.K99T	CASP6_ENST00000352981.3_Intron|CASP6_ENST00000510324.1_5'Flank|CASP6_ENST00000505486.1_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	99					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CTCATGAATTTTGAGCAGTAG	0.328																																																	0													92	87	89					4																	110617577		2201	4300	6501	SO:0001583	missense	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.296A>C	4.37:g.110617577T>G	ENSP00000265164:p.Lys99Thr		Q9BQE7	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.K99T	ENST00000265164.2	37	c.296	CCDS3684.1	4	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797537	0.31777	.	.	ENSG00000138794	ENST00000265164;ENST00000503684	T;T	0.20881	2.04;2.04	5.83	0.0734	0.14390	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.284151	0.42964	N	0.000626	T	0.11281	0.0275	N	0.17474	0.49	0.09310	N	0.999993	B	0.10296	0.003	B	0.26770	0.073	T	0.24799	-1.0150	10	0.34782	T	0.22	.	6.8731	0.24131	0.0:0.1969:0.2263:0.5768	.	99	P55212	CASP6_HUMAN	T	99;81	ENSP00000265164:K99T;ENSP00000427669:K81T	ENSP00000265164:K99T	K	-	2	0	CASP6	110837026	0.648000	0.27313	0.931000	0.37212	0.975000	0.68041	0.449000	0.21744	0.119000	0.18210	0.528000	0.53228	AAA	CASP6	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.328	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	T	NM_001226		110617577	-1	no_errors	ENST00000265164	ensembl	human	known	70_37	missense	SNP	0.091	G	G	110617577	T	G	110617577	3	3	131	1	0	0	0	0	1	0	0	0	2680	1841	64	5	601	5	CASP6	4	110617577	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	201765	110617577	80536699	542	20682										
ALPK1	80216	genome.wustl.edu	37	chr4	113352584	113352584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttccactgccttgtctgaGgagctagagaatgacaggga	13	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:113352584G>T	ENST00000458497.1	+	11	2160	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	ALPK1_ENST00000177648.9_Missense_Mutation_p.E627D|ALPK1_ENST00000504176.2_Missense_Mutation_p.E549D	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	627							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTTGTCTGAGGAGCTAGAGA	0.483																																																	0													86	81	83					4																	113352584		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1881G>T	4.37:g.113352584G>T	ENSP00000398048:p.Glu627Asp		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E627D	ENST00000458497.1	37	c.1881	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	G	3.802	-0.041442	0.07452	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02863	4.21;4.21;4.13	5.2	0.666	0.17901	.	0.391600	0.27402	N	0.019539	T	0.02193	0.0068	L	0.41824	1.3	0.09310	N	1	B;B;B	0.14012	0.009;0.005;0.005	B;B;B	0.16722	0.016;0.007;0.005	T	0.44590	-0.9318	10	0.38643	T	0.18	-12.9133	0.3856	0.00402	0.2107:0.1638:0.2624:0.3631	.	549;549;627	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	D	627;627;549	ENSP00000398048:E627D;ENSP00000177648:E627D;ENSP00000426044:E549D	ENSP00000177648:E627D	E	+	3	2	ALPK1	113572033	0.997000	0.39634	0.015000	0.15790	0.075000	0.17131	0.777000	0.26718	-0.123000	0.11745	0.655000	0.94253	GAG	ALPK1	-	NULL		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	G	NM_025144		113352584	1	no_errors	ENST00000177648	ensembl	human	known	70_37	missense	SNP	0.014	T	T	113352584	G	T	113352584	3	4	131	1	0	0	0	0	1	0	0	0	544	991	35	4	1915	4	ALPK1	4	113352584	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2735007	113352584	77801692	543	20683										
C4orf21	55345	genome.wustl.edu	37	chr4	113462071	113462071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatcagcttgagtgtaaacGtagcttctgccacattatga	9	8	2	2	rs150416544	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:113462071G>A	ENST00000505019.1	-	26	5941	c.5816C>T	c.(5815-5817)aCg>aTg	p.T1939M	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1939						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		GAGTGTAAACGTAGCTTCTGC	0.368																																																	0								G	MET/THR	6,4396		0,6,2195	82	73	76		5816	4.8	0.4	4	dbSNP_134	76	0,8598		0,0,4299	yes	missense	C4orf21	NM_018392.4	81	0,6,6494	AA,AG,GG		0.0,0.1363,0.0462	possibly-damaging	1939/2105	113462071	6,12994	2201	4299	6500	SO:0001583	missense	55345																														ENST00000505019.1:c.5816C>T	4.37:g.113462071G>A	ENSP00000424737:p.Thr1939Met		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.T1939M	ENST00000505019.1	37	c.5816		4	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009909	0.35415	0.001363	0.0	ENSG00000138658	ENST00000505019	D	0.82081	-1.57	5.68	4.83	0.62350	.	0.769709	0.12215	N	0.488943	T	0.76407	0.3983	N	0.20445	0.575	0.09310	N	0.999995	P;D	0.55605	0.745;0.972	B;P	0.51833	0.333;0.681	T	0.65376	-0.6183	10	0.45353	T	0.12	-5.1727	4.127	0.10131	0.0785:0.1405:0.5191:0.2618	.	1939;397	G5EA02;B3KQX2	.;.	M	1939	ENSP00000424737:T1939M	ENSP00000424737:T1939M	T	-	2	0	C4orf21	113681520	1.000000	0.71417	0.366000	0.25914	0.922000	0.55478	2.064000	0.41432	1.368000	0.46115	0.563000	0.77884	ACG	C4orf21	-	NULL		0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	G			113462071	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.225	A	A	113462071	G	A	113462071	3	1	131	1	0	0	0	0	1	0	0	0	2259	1145	40	2	510	2	C4orf21	4	113462071	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	109487	113462071	77692205	544	20684										
C4orf21	55345	genome.wustl.edu	37	chr4	113510989	113510989	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagttcaaagaaaaggtagaAacagggctcaatgtagagat	12	4	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:113510989A>C	ENST00000505019.1	-	11	3143	c.3018T>G	c.(3016-3018)gtT>gtG	p.V1006V	C4orf21_ENST00000309071.5_Silent_p.V1006V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1006						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		AAAAGGTAGAAACAGGGCTCA	0.358																																																	0													69	70	70					4																	113510989		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.3018T>G	4.37:g.113510989A>C			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.V1006	ENST00000505019.1	37	c.3018		4																																																																																			C4orf21	-	NULL		0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	A			113510989	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.178	C	C	113510989	A	C	113510989	2	2	131	1	0	0	0	0	0	0	0	1	2259	1	1	5		5	C4orf21	4	113510989	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	48918	113510989	77643287	545	20685										
TRAM1L1	133022	genome.wustl.edu	37	chr4	118005916	118005916	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaatgattcaagtacaagaGataagctccagtaatgtgga	9	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:118005916G>T	ENST00000310754.4	-	1	820	c.634C>A	c.(634-636)Ctc>Atc	p.L212I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	212	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGTACAAGAGATAAGCTCCA	0.383																																																	0													136	129	131					4																	118005916		2203	4300	6503	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.634C>A	4.37:g.118005916G>T	ENSP00000309402:p.Leu212Ile		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L212I	ENST00000310754.4	37	c.634	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352243	0.05173	.	.	ENSG00000174599	ENST00000310754	D	0.85171	-1.95	3.88	3.88	0.44766	TRAM/LAG1/CLN8 homology domain (3);	0.477448	0.23528	N	0.047202	T	0.77772	0.4180	L	0.38838	1.175	0.09310	N	1	B	0.16802	0.019	B	0.24006	0.05	T	0.63470	-0.6630	10	0.27082	T	0.32	-25.9915	11.6569	0.51324	0.0:0.0:1.0:0.0	.	212	Q8N609	TR1L1_HUMAN	I	212	ENSP00000309402:L212I	ENSP00000309402:L212I	L	-	1	0	TRAM1L1	118225364	0.950000	0.32346	0.045000	0.18777	0.016000	0.09150	0.514000	0.22786	2.448000	0.82819	0.655000	0.94253	CTC	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom		0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	G	NM_152402		118005916	-1	no_errors	ENST00000310754	ensembl	human	known	70_37	missense	SNP	0.049	T	T	118005916	G	T	118005916	3	4	131	1	0	0	0	0	1	0	0	0	16483	942	33	3	479	3	TRAM1L1	4	118005916	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4494927	118005916	73148360	546	20686										
USP53	54532	genome.wustl.edu	37	chr4	120188514	120188514	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgttgtctccaaatgcattCgatgccactttcagccacta	6	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:120188514C>T	ENST00000274030.6	+	13	2191	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	USP53_ENST00000450251.1_Nonsense_Mutation_p.R338*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAAATGCATTCGATGCCACTT	0.383																																																	0													115	108	110					4																	120188514		1935	4145	6080	SO:0001587	stop_gained	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1012C>T	4.37:g.120188514C>T	ENSP00000274030:p.Arg338*			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R338*	ENST00000274030.6	37	c.1012	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.201720	0.94997	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	6.02	5.1	0.69264	.	0.179588	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3892	16.0834	0.81020	0.2194:0.7806:0.0:0.0	.	.	.	.	X	338	.	ENSP00000274030:R338X	R	+	1	2	USP53	120407962	0.942000	0.31987	0.943000	0.38184	0.920000	0.55202	2.716000	0.47219	2.865000	0.98341	0.655000	0.94253	CGA	USP53	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.383	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	C	XM_052597		120188514	1	no_errors	ENST00000274030	ensembl	human	known	70_37	nonsense	SNP	0.947	T	T	120188514	C	T	120188514	4	4	131	1	0	0	0	0	0	1	0	0	17115	876	31	1	1046	1	USP53	4	120188514	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2182598	120188514	70965762	547	20687										
C4orf31	79625	genome.wustl.edu	37	chr4	121958454	121958454	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agttttgcttccactgcacaGagacttttgaaattgtgctc	8	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:121958454G>T	ENST00000379692.4	-	4	1198	c.672C>A	c.(670-672)ctC>ctA	p.L224L	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	224					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCACTGCACAGAGACTTTTGA	0.478																																																	0													156	159	158					4																	121958454		2203	4300	6503	SO:0001819	synonymous_variant	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.672C>A	4.37:g.121958454G>T			A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.L224	ENST00000379692.4	37	c.672	CCDS3717.2	4																																																																																			NDNF	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.478	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	G	NM_024574		121958454	-1	no_errors	ENST00000379692	ensembl	human	known	70_37	silent	SNP	1.000	T	T	121958454	G	T	121958454	2	4	131	1	0	0	0	0	0	0	0	1	2266	929	33	3		3	C4orf31	4	121958454	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1769940	121958454	69195822	548	20688										
CCNA2	890	genome.wustl.edu	37	chr4	122739207	122739207	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttaattcttactttgaattTttgtacttttctcttattga	4	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:122739207T>G	ENST00000274026.5	-	7	1545	c.1242A>C	c.(1240-1242)aaA>aaC	p.K414N		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	414					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ACTTTGAATTTTTGTACTTTT	0.368																																																	0													92	92	92					4																	122739207		2203	4300	6503	SO:0001583	missense	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1242A>C	4.37:g.122739207T>G	ENSP00000274026:p.Lys414Asn		A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.K414N	ENST00000274026.5	37	c.1242	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775037	0.70107	.	.	ENSG00000145386	ENST00000274026	T	0.22336	1.96	6.08	-0.411	0.12370	Cyclin, C-terminal (1);Cyclin-like (2);	0.134464	0.64402	D	0.000003	T	0.24275	0.0588	M	0.68728	2.09	0.44447	D	0.997374	P	0.41947	0.766	B	0.43680	0.427	T	0.05733	-1.0867	10	0.49607	T	0.09	.	10.3465	0.43909	0.0:0.57:0.0:0.43	.	414	P20248	CCNA2_HUMAN	N	414	ENSP00000274026:K414N	ENSP00000274026:K414N	K	-	3	2	CCNA2	122958657	0.845000	0.29573	0.066000	0.19879	0.962000	0.63368	1.549000	0.36212	-0.031000	0.13781	0.482000	0.46254	AAA	CCNA2	-	pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E		0.368	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	T	NM_001237		122739207	-1	no_errors	ENST00000274026	ensembl	human	known	70_37	missense	SNP	0.664	G	G	122739207	T	G	122739207	3	3	131	1	0	0	0	0	1	0	0	0	2915	1838	64	5	64	5	CCNA2	4	122739207	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	780753	122739207	68415069	549	20689										
KIAA1109	84162	genome.wustl.edu	37	chr4	123165053	123165053	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaactcgctgataacacagAtgatgaaacattaacagaag	7	7	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:123165053A>C	ENST00000264501.4	+	31	5160	c.4787A>C	c.(4786-4788)gAt>gCt	p.D1596A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1596A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1596A			Q2LD37	K1109_HUMAN	KIAA1109	1596					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATAACACAGATGATGAAACA	0.368																																																	0													107	98	101					4																	123165053		1858	4090	5948	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4787A>C	4.37:g.123165053A>C	ENSP00000264501:p.Asp1596Ala		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.D1596A	ENST00000264501.4	37	c.4787	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.748457|4.748457	0.89753|0.89753	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.27104|.	2.29;2.29;1.69|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.44902|.	U|.	0.000405|.	T|T	0.51398|0.51398	0.1672|0.1672	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999972|0.999972	D;P|.	0.56035|.	0.974;0.884|.	P;B|.	0.54664|.	0.758;0.355|.	T|T	0.48758|0.48758	-0.9007|-0.9007	10|5	0.72032|.	D|.	0.01|.	.|.	15.6942|15.6942	0.77481|0.77481	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1595;1596|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	A|L	1596|169	ENSP00000264501:D1596A;ENSP00000373390:D1596A;ENSP00000389925:D1596A|.	ENSP00000264501:D1596A|.	D|M	+|+	2|1	0|0	KIAA1109|KIAA1109	123384503|123384503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	8.829000|8.829000	0.92055|0.92055	2.106000|2.106000	0.64143|0.64143	0.460000|0.460000	0.39030|0.39030	GAT|ATG	KIAA1109	-	NULL		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	A	NM_020797		123165053	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123165053	A	C	123165053	3	2	131	1	0	0	0	0	1	0	0	0	8228	333	12	5	4901	5	KIAA1109	4	123165053	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	425846	123165053	67989223	550	20690										
KIAA1109	84162	genome.wustl.edu	37	chr4	123267858	123267858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcatttccaagagcatggTatagaagaagtattgcaaga	11	5	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:123267858T>C	ENST00000264501.4	+	75	13187	c.12814T>C	c.(12814-12816)Tat>Cat	p.Y4272H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y4272H			Q2LD37	K1109_HUMAN	KIAA1109	4272					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGAGCATGGTATAGAAGAAG	0.358																																																	0													185	170	175					4																	123267858		1858	4097	5955	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12814T>C	4.37:g.123267858T>C	ENSP00000264501:p.Tyr4272His		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.Y4272H	ENST00000264501.4	37	c.12814	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904389	0.92035	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.60040	1.04;1.04;0.22	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.79293	-0.1863	10	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	4271;4272	Q2LD37-4;Q2LD37	.;K1109_HUMAN	H	4272;4272;941	ENSP00000264501:Y4272H;ENSP00000373390:Y4272H;ENSP00000410874:Y941H	ENSP00000264501:Y4272H	Y	+	1	0	KIAA1109	123487308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	TAT	KIAA1109	-	NULL		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	T	NM_020797		123267858	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123267858	T	C	123267858	3	2	131	1	0	0	0	0	1	0	0	0	8228	1638	57	5	13104	5	KIAA1109	4	123267858	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	102805	123267858	67886418	551	20691										
BBS12	166379	genome.wustl.edu	37	chr4	123664704	123664704	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcttagctgtcttcatattCttgcagagcaatctctgaaa	7	9	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:123664704C>A	ENST00000314218.3	+	2	1850	c.1657C>A	c.(1657-1659)Ctt>Att	p.L553I	BBS12_ENST00000542236.1_Missense_Mutation_p.L553I	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	553					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCTTCATATTCTTGCAGAGCA	0.433									Bardet-Biedl syndrome																																								0													123	123	123					4																	123664704		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1657C>A	4.37:g.123664704C>A	ENSP00000319062:p.Leu553Ile		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L553I	ENST00000314218.3	37	c.1657	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	6.185	0.402354	0.11696	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.78595	-1.19;-1.19	5.71	3.87	0.44632	.	0.464641	0.23338	N	0.049274	T	0.76435	0.3987	M	0.66939	2.045	0.09310	N	1	B	0.21688	0.059	B	0.24541	0.054	T	0.70371	-0.4890	10	0.62326	D	0.03	-35.44	14.5432	0.68011	0.2903:0.7097:0.0:0.0	.	553	Q6ZW61	BBS12_HUMAN	I	553	ENSP00000319062:L553I;ENSP00000438273:L553I	ENSP00000319062:L553I	L	+	1	0	BBS12	123884154	1.000000	0.71417	0.008000	0.14137	0.012000	0.07955	3.193000	0.50997	1.348000	0.45733	0.591000	0.81541	CTT	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.433	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	C	NM_152618		123664704	1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	0.041	A	A	123664704	C	A	123664704	3	1	131	1	0	0	0	0	1	0	0	0	1338	913	32	3	1659	3	BBS12	4	123664704	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	396846	123664704	67489572	552	20692										
FAT4	79633	genome.wustl.edu	37	chr4	126373266	126373266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtcacgagcaacatccgaGttttctttgctggattttcc	8	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:126373266G>A	ENST00000394329.3	+	9	11108	c.11095G>A	c.(11095-11097)Gtt>Att	p.V3699I	FAT4_ENST00000335110.5_Missense_Mutation_p.V1997I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3699					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACATCCGAGTTTTCTTTGC	0.463																																																	0													169	160	163					4																	126373266		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11095G>A	4.37:g.126373266G>A	ENSP00000377862:p.Val3699Ile		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3699I	ENST00000394329.3	37	c.11095	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151057	0.57151	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51817	0.69;0.69	5.77	5.77	0.91146	.	0.252095	0.20003	U	0.101294	T	0.36991	0.0987	L	0.31526	0.94	0.58432	D	0.999996	B;B;B	0.21309	0.054;0.032;0.054	B;B;B	0.19666	0.026;0.012;0.026	T	0.10706	-1.0618	10	0.27785	T	0.31	.	13.6437	0.62267	0.0793:0.0:0.9207:0.0	.	1997;3699;3699	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	3699;1997	ENSP00000377862:V3699I;ENSP00000335169:V1997I	ENSP00000335169:V1997I	V	+	1	0	FAT4	126592716	1.000000	0.71417	0.917000	0.36280	0.947000	0.59692	3.985000	0.56930	2.724000	0.93272	0.561000	0.74099	GTT	FAT4	-	superfamily_Cadherin-like		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126373266	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126373266	G	A	126373266	3	1	131	1	0	0	0	0	1	0	0	0	5710	1029	36	4	11129	4	FAT4	4	126373266	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2708562	126373266	64781010	553	20693										
FAT4	79633	genome.wustl.edu	37	chr4	126373322	126373322	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacagcatcttacttcgtctCggcgtaccaacagtaaagga	8	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:126373322C>T	ENST00000394329.3	+	9	11164	c.11151C>T	c.(11149-11151)ctC>ctT	p.L3717L	FAT4_ENST00000335110.5_Silent_p.L2015L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3717					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTCGTCTCGGCGTACCAA	0.463																																																	0													179	167	171					4																	126373322		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11151C>T	4.37:g.126373322C>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3717	ENST00000394329.3	37	c.11151	CCDS3732.3	4																																																																																			FAT4	-	NULL		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126373322	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.000	T	T	126373322	C	T	126373322	2	4	131	1	0	0	0	0	0	0	0	1	5710	871	31	1		1	FAT4	4	126373322	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	56	126373322	64780954	554	20694										
FAT4	79633	genome.wustl.edu	37	chr4	126408558	126408558	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattgctgggaaagtggagaGaaatattcctgaagtatatg	12	3	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:126408558G>A	ENST00000394329.3	+	16	12888	c.12875G>A	c.(12874-12876)aGa>aAa	p.R4292K	FAT4_ENST00000335110.5_Missense_Mutation_p.R2533K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4292	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAGTGGAGAGAAATATTCCT	0.338																																																	0													68	71	70					4																	126408558		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12875G>A	4.37:g.126408558G>A	ENSP00000377862:p.Arg4292Lys		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R4292K	ENST00000394329.3	37	c.12875	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344826	0.61073	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79033	-1.23;-1.21	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.35677	U	0.003054	D	0.82995	0.5158	M	0.63843	1.955	0.48975	D	0.999735	P;P;D	0.53151	0.919;0.934;0.958	P;P;P	0.54889	0.633;0.749;0.763	T	0.81464	-0.0921	10	0.31617	T	0.26	.	17.6564	0.88179	0.0:0.0:1.0:0.0	.	2533;4292;4292	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	K	4292;2533	ENSP00000377862:R4292K;ENSP00000335169:R2533K	ENSP00000335169:R2533K	R	+	2	0	FAT4	126628008	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	8.746000	0.91604	2.401000	0.81631	0.650000	0.86243	AGA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.338	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126408558	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126408558	G	A	126408558	3	1	131	1	0	0	0	0	1	0	0	0	5710	942	33	1	12937	1	FAT4	4	126408558	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	35236	126408558	64745718	555	20695										
PLK4	10733	genome.wustl.edu	37	chr4	128813661	128813661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctgattttgaggtttggtTttatgatggtaagtaccatt	11	3	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:128813661T>G	ENST00000270861.5	+	10	2454	c.2180T>G	c.(2179-2181)tTt>tGt	p.F727C	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Missense_Mutation_p.F666C|PLK4_ENST00000513090.1_Missense_Mutation_p.F695C|PLK4_ENST00000514379.1_Missense_Mutation_p.F686C|PLK4_ENST00000515069.1_Missense_Mutation_p.F649C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	727					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGGTTTGGTTTTATGATGGT	0.318																																					Colon(135;508 1718 19061 31832 42879)												0													141	130	134					4																	128813661		2202	4300	6502	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2180T>G	4.37:g.128813661T>G	ENSP00000270861:p.Phe727Cys		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.F727C	ENST00000270861.5	37	c.2180	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148293	0.78001	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	D;D;D;D;D	0.92805	-2.85;-2.63;-3.11;-2.71;-2.95	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.85945	2.785	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96965	0.9704	10	0.87932	D	0	-12.7734	15.4467	0.75235	0.0:0.0:0.0:1.0	.	695;727	O00444-2;O00444	.;PLK4_HUMAN	C	727;649;695;666;686	ENSP00000270861:F727C;ENSP00000421774:F649C;ENSP00000427554:F695C;ENSP00000423412:F666C;ENSP00000423582:F686C	ENSP00000270861:F727C	F	+	2	0	PLK4	129033111	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.748000	0.85085	2.050000	0.60909	0.260000	0.18958	TTT	PLK4	-	NULL		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	T			128813661	1	no_errors	ENST00000270861	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128813661	T	G	128813661	3	3	131	1	0	0	0	0	1	0	0	0	12122	1841	64	5	2218	5	PLK4	4	128813661	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2405103	128813661	62340615	556	20696										
C4orf29	80167	genome.wustl.edu	37	chr4	128949726	128949726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggtttccagaactttaaatTtagatatatcaaaccaagtt	5	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:128949726T>G	ENST00000444616.1	+	10	1043	c.796T>G	c.(796-798)Tta>Gta	p.L266V	C4orf29_ENST00000388795.5_Missense_Mutation_p.L218V|C4orf29_ENST00000398965.1_Missense_Mutation_p.L266V			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	266						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AACTTTAAATTTAGATATATC	0.378																																																	0													38	37	37					4																	128949726		1837	4090	5927	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.796T>G	4.37:g.128949726T>G	ENSP00000397229:p.Leu266Val		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.L266V	ENST00000444616.1	37	c.796		4	.	.	.	.	.	.	.	.	.	.	T	5.909	0.351819	0.11182	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.73	-0.74	0.11115	.	1.186040	0.06040	N	0.654651	T	0.30634	0.0771	L	0.47190	1.495	0.25192	N	0.990121	B;B	0.22003	0.063;0.023	B;B	0.19666	0.026;0.018	T	0.22591	-1.0212	9	0.25106	T	0.35	-19.4942	1.8897	0.03245	0.1294:0.215:0.1324:0.5232	.	218;266	B7WP89;Q0P651	.;CD029_HUMAN	V	266;97;266;266;218;184;173	.	ENSP00000373447:L218V	L	+	1	2	C4orf29	129169176	0.980000	0.34600	0.771000	0.31576	0.591000	0.36615	0.255000	0.18333	-0.015000	0.14150	0.533000	0.62120	TTA	C4orf29	-	pfam_DUF2048		0.378	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	T	NM_001039717		128949726	1	no_errors	ENST00000398965	ensembl	human	known	70_37	missense	SNP	0.491	G	G	128949726	T	G	128949726	3	3	131	1	0	0	0	0	1	0	0	0	2264	1838	64	5	830	5	C4orf29	4	128949726	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	136065	128949726	62204550	557	20697										
PCDH10	57575	genome.wustl.edu	37	chr4	134071547	134071547	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaatagaccgcgaacaaatCtgcaaacagagcccctcctg	7	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:134071547C>A	ENST00000264360.5	+	1	1078	c.252C>A	c.(250-252)atC>atA	p.I84I	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGAACAAATCTGCAAACAGA	0.547																																																	0													66	72	70					4																	134071547		2203	4300	6503	SO:0001819	synonymous_variant	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.252C>A	4.37:g.134071547C>A			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I84	ENST00000264360.5	37	c.252	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134071547	1	no_errors	ENST00000264360	ensembl	human	known	70_37	silent	SNP	1.000	A	A	134071547	C	A	134071547	2	1	131	1	0	0	0	0	0	0	0	1	11531	903	32	3		3	PCDH10	4	134071547	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5121821	134071547	57082729	558	20698										
ZNF330	27309	genome.wustl.edu	37	chr4	142145644	142145644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttttatatgttacaggaaTgtgacaagtgtcagaggtaa	10	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:142145644T>G	ENST00000262990.4	+	3	352	c.124T>G	c.(124-126)Tgt>Ggt	p.C42G	ZNF330_ENST00000421169.2_Missense_Mutation_p.N5K	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	42						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GTTACAGGAATGTGACAAGTG	0.264																																																	0													79	86	83					4																	142145644		2201	4295	6496	SO:0001583	missense	27309			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.124T>G	4.37:g.142145644T>G	ENSP00000262990:p.Cys42Gly		B2RDA3	Missense_Mutation	SNP	pfam_NOA36	p.C42G	ENST00000262990.4	37	c.124	CCDS3754.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.576952|4.576952	0.86645|0.86645	.|.	.|.	ENSG00000109445|ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738|ENST00000421169	T;T;T;T|T	0.44482|0.41065	0.92;0.92;0.92;0.92|1.01	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47229|0.47229	0.1434|0.1434	M|M	0.80982|0.80982	2.52|2.52	0.43750|0.43750	D|D	0.996259|0.996259	D|B	0.69078|0.33694	0.997|0.421	D|B	0.81914|0.25140	0.995|0.058	T|T	0.52953|0.52953	-0.8506|-0.8506	10|9	0.87932|0.87932	D|D	0|0	-10.9876|-10.9876	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	42|5	Q9Y3S2|E9PDK6	ZN330_HUMAN|.	G|K	42|5	ENSP00000262990:C42G;ENSP00000422599:C42G;ENSP00000422966:C42G;ENSP00000422251:C42G|ENSP00000397397:N5K	ENSP00000262990:C42G|ENSP00000397397:N5K	C|N	+|+	1|3	0|2	ZNF330|ZNF330	142365094|142365094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.425000|7.425000	0.80255|0.80255	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TGT|AAT	ZNF330	-	pfam_NOA36		0.264	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF330	HGNC	protein_coding	OTTHUMT00000257271.2	T	NM_014487		142145644	1	no_errors	ENST00000262990	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142145644	T	G	142145644	3	3	131	1	0	0	0	0	1	0	0	0	17878	1464	51	5	130	5	ZNF330	4	142145644	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	8074097	142145644	49008632	559	20699										
INPP4B	8821	genome.wustl.edu	37	chr4	143129638	143129638	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagatttattggaacaaattCtaatgttttctctcctttgc	5	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:143129638C>A	ENST00000513000.1	-	15	1445	c.1012G>T	c.(1012-1014)Gaa>Taa	p.E338*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.E338*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.E338*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.E338*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.E338*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	338					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGAACAAATTCTAATGTTTTC	0.299																																																	0													104	106	105					4																	143129638		2203	4300	6503	SO:0001587	stop_gained	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1012G>T	4.37:g.143129638C>A	ENSP00000425487:p.Glu338*		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E338*	ENST00000513000.1	37	c.1012	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.867022	0.97897	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.71	4.87	0.63330	.	0.051674	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6154	0.62105	0.0:0.9242:0.0:0.0758	.	.	.	.	X	338;338;338;209;338;338;153;153;338;209	.	ENSP00000262992:E338X	E	-	1	0	INPP4B	143349088	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.205000	0.58466	1.421000	0.47157	0.555000	0.69702	GAA	INPP4B	-	NULL		0.299	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	C	NM_003866		143129638	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	143129638	C	A	143129638	4	1	131	1	0	0	0	0	0	1	0	0	7773	922	32	3	1814	3	INPP4B	4	143129638	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	983994	143129638	48024638	560	20700										
ABCE1	6059	genome.wustl.edu	37	chr4	146044714	146044714	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctagcggatcgcgtcatcgtTtttgatggtgttccatctaa	10	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:146044714T>G	ENST00000296577.4	+	16	2117	c.1602T>G	c.(1600-1602)gtT>gtG	p.V534V	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	534	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GCGTCATCGTTTTTGATGGTG	0.338																																																	0													65	59	61					4																	146044714		2203	4300	6503	SO:0001819	synonymous_variant	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1602T>G	4.37:g.146044714T>G			O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Silent	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.V534	ENST00000296577.4	37	c.1602	CCDS34071.1	4																																																																																			ABCE1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	T	NM_002940		146044714	1	no_errors	ENST00000296577	ensembl	human	known	70_37	silent	SNP	0.998	G	G	146044714	T	G	146044714	2	3	131	1	0	0	0	0	0	0	0	1	64	1828	64	5		5	ABCE1	4	146044714	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2915076	146044714	45109562	561	20701										
MMAA	166785	genome.wustl.edu	37	chr4	146560411	146560411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcggatcaggaatcccatgTgctcagccgtttaattctct	8	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:146560411T>C	ENST00000281317.5	+	2	1330	c.120T>C	c.(118-120)tgT>tgC	p.C40C	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	40					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATCCCATGTGCTCAGCCGT	0.423																																																	0													144	140	141					4																	146560411		2203	4300	6503	SO:0001819	synonymous_variant	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.120T>C	4.37:g.146560411T>C			B3KX40|Q495G7	Silent	SNP	pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK	p.C40	ENST00000281317.5	37	c.120	CCDS3766.1	4																																																																																			MMAA	-	NULL		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	HGNC	protein_coding	OTTHUMT00000364668.2	T			146560411	1	no_errors	ENST00000281317	ensembl	human	known	70_37	silent	SNP	0.004	C	C	146560411	T	C	146560411	2	2	131	1	0	0	0	0	0	0	0	1	9662	1702	59	5		5	MMAA	4	146560411	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	515697	146560411	44593865	562	20702										
C4orf51	646603	genome.wustl.edu	37	chr4	146617722	146617722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttccttaggatgtcattgaCaaacagttctgcctgtcatc	7	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:146617722C>A	ENST00000438731.1	+	2	245	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	82										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATGTCATTGACAAACAGTTCT	0.413																																																	0													155	147	150					4																	146617722		1885	4108	5993	SO:0001583	missense	646603				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.245C>A	4.37:g.146617722C>A	ENSP00000391404:p.Thr82Lys			Missense_Mutation	SNP	NULL	p.T82K	ENST00000438731.1	37	c.245	CCDS47140.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.782|7.782	0.709715|0.709715	0.15239|0.15239	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000511965|ENST00000438731	.|.	.|.	.|.	3.67|3.67	1.94|1.94	0.25998|0.25998	.|.	.|.	.|.	.|.	.|.	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.11329	.|0.006	T|T	0.19745|0.19745	-1.0296|-1.0296	5|8	.|0.62326	.|D	.|0.03	.|.	6.2141|6.2141	0.20646|0.20646	0.0:0.7928:0.0:0.2072|0.0:0.7928:0.0:0.2072	.|.	.|82	.|C9J302	.|CD051_HUMAN	K|K	42|82	.|.	.|ENSP00000391404:T82K	Q|T	+|+	1|2	0|0	C4orf51|C4orf51	146837172|146837172	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.037000|0.037000	0.13140|0.13140	-0.330000|-0.330000	0.07925|0.07925	0.549000|0.549000	0.28973|0.28973	0.561000|0.561000	0.74099|0.74099	CAA|ACA	C4orf51	-	NULL		0.413	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf51	HGNC	protein_coding		C	NM_001080531		146617722	1	no_errors	ENST00000438731	ensembl	human	known	70_37	missense	SNP	0.001	A	A	146617722	C	A	146617722	3	1	131	1	0	0	0	0	1	0	0	0	2282	478	17	4	251	4	C4orf51	4	146617722	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	57311	146617722	44536554	563	20703										
TMEM184C	55751	genome.wustl.edu	37	chr4	148554065	148554065	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacatataggcaagcagtagTtattgctttgttggtaaaag	10	4	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:148554065T>G	ENST00000296582.3	+	8	1365	c.791T>G	c.(790-792)gTt>gGt	p.V264G	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	264						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CAAGCAGTAGTTATTGCTTTG	0.388																																																	0													149	133	139					4																	148554065		2203	4300	6503	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.791T>G	4.37:g.148554065T>G	ENSP00000296582:p.Val264Gly		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	pfam_Ost-alpha	p.V264G	ENST00000296582.3	37	c.791	CCDS3770.1	4	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670924	0.47781	.	.	ENSG00000164168	ENST00000296582	T	0.48201	0.82	5.6	3.11	0.35812	.	0.436629	0.27122	N	0.020828	T	0.27629	0.0679	N	0.16037	0.36	0.80722	D	1	B	0.18610	0.029	B	0.18871	0.023	T	0.04255	-1.0965	10	0.36615	T	0.2	-5.5818	7.6083	0.28115	0.1261:0.0685:0.0:0.8054	.	264	Q9NVA4	T184C_HUMAN	G	264	ENSP00000296582:V264G	ENSP00000296582:V264G	V	+	2	0	TMEM184C	148773515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	0.461000	0.27071	0.528000	0.53228	GTT	TMEM184C	-	pfam_Ost-alpha		0.388	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	T	NM_018241		148554065	1	no_errors	ENST00000296582	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148554065	T	G	148554065	3	3	131	1	0	0	0	0	1	0	0	0	16136	1725	60	5	821	5	TMEM184C	4	148554065	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1936343	148554065	42600211	564	20704										
PRMT10	90826	genome.wustl.edu	37	chr4	148563981	148563981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctatatttaatccaagagtaCgttctgttccttgaacagca	6	9	1	2	rs143676403		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:148563981C>T	ENST00000322396.6	-	10	2398	c.2156G>A	c.(2155-2157)cGt>cAt	p.R719H	PRMT10_ENST00000541232.1_Missense_Mutation_p.R606H|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		719	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCCAAGAGTACGTTCTGTTCC	0.433																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	134	131	132		2156	3.1	0.1	4	dbSNP_134	132	0,8600		0,0,4300	no	missense	PRMT10	NM_138364.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	719/846	148563981	1,13005	2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.2156G>A	4.37:g.148563981C>T	ENSP00000314396:p.Arg719His		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R719H	ENST00000322396.6	37	c.2156	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173551	0.38413	2.27E-4	0.0	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.21543	2.0;2.0	5.85	3.1	0.35709	.	0.281146	0.40728	N	0.001029	T	0.06826	0.0174	N	0.02011	-0.69	0.21445	N	0.99968	B	0.06786	0.001	B	0.04013	0.001	T	0.29761	-1.0001	10	0.28530	T	0.3	-13.9264	5.8715	0.18807	0.0:0.4323:0.289:0.2787	.	719	Q6P2P2	ANM10_HUMAN	H	719;606	ENSP00000314396:R719H;ENSP00000439508:R606H	ENSP00000314396:R719H	R	-	2	0	PRMT10	148783431	1.000000	0.71417	0.064000	0.19789	0.997000	0.91878	3.945000	0.56637	0.796000	0.33947	0.655000	0.94253	CGT	PRMT10	-	NULL		0.433	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	C			148563981	-1	no_errors	ENST00000322396	ensembl	human	known	70_37	missense	SNP	0.651	T	T	148563981	C	T	148563981	3	4	131	1	0	0	0	0	1	0	0	0	12563	536	19	2	393	2	PRMT10	4	148563981	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9916	148563981	42590295	565	20705										
KIAA0922	23240	genome.wustl.edu	37	chr4	154523328	154523328	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaagacagtaagcaaatttTatctattacaaagaacttta	5	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:154523328T>G	ENST00000409663.3	+	22	2340	c.2288T>G	c.(2287-2289)tTa>tGa	p.L763*	KIAA0922_ENST00000409959.3_Nonsense_Mutation_p.L764*|KIAA0922_ENST00000440693.1_Nonsense_Mutation_p.L680*	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	763						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGCAAATTTTATCTATTACA	0.274																																																	0													48	51	50					4																	154523328		2198	4299	6497	SO:0001587	stop_gained	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2288T>G	4.37:g.154523328T>G	ENSP00000386574:p.Leu763*		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Nonsense_Mutation	SNP	pfam_DUF3651_TMEM131	p.L764*	ENST00000409663.3	37	c.2291	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	T	40	8.304863	0.98752	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.81	5.81	0.92471	.	0.130631	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9729	16.167	0.81768	0.0:0.0:0.0:1.0	.	.	.	.	X	763;680;764;541	.	ENSP00000240487:L541X	L	+	2	0	KIAA0922	154742778	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.649000	0.83500	2.210000	0.71456	0.533000	0.62120	TTA	KIAA0922	-	NULL		0.274	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	T	NM_015196		154523328	1	no_errors	ENST00000409959	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	154523328	T	G	154523328	4	3	131	1	0	0	0	0	0	1	0	0	8221	1764	61	5	2377	5	KIAA0922	4	154523328	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5959347	154523328	36630948	566	20706										
TLR2	7097	genome.wustl.edu	37	chr4	154625158	154625158	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatcattagaatacttggatCtcagtgaaaatttgatggtt	8	4	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:154625158C>A	ENST00000260010.6	+	1	2507	c.1099C>A	c.(1099-1101)Ctc>Atc	p.L367I		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	367					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	ATACTTGGATCTCAGTGAAAA	0.328																																																	0													34	37	36					4																	154625158		2202	4296	6498	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1099C>A	4.37:g.154625158C>A	ENSP00000260010:p.Leu367Ile		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.L367I	ENST00000260010.6	37	c.1099	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887142	0.52014	.	.	ENSG00000137462	ENST00000260010	T	0.68624	-0.34	6.06	6.06	0.98353	.	0.071608	0.64402	D	0.000020	D	0.82797	0.5115	M	0.81682	2.555	0.47037	D	0.999291	P	0.41748	0.761	P	0.57244	0.816	T	0.82386	-0.0483	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	367	O60603	TLR2_HUMAN	I	367	ENSP00000260010:L367I	ENSP00000260010:L367I	L	+	1	0	TLR2	154844608	0.997000	0.39634	1.000000	0.80357	0.819000	0.46315	2.323000	0.43823	2.882000	0.98803	0.655000	0.94253	CTC	TLR2	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor		0.328	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	C			154625158	1	no_errors	ENST00000260010	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154625158	C	A	154625158	3	1	131	1	0	0	0	0	1	0	0	0	15981	913	32	3	1101	3	TLR2	4	154625158	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	101830	154625158	36529118	567	20707										
PLRG1	5356	genome.wustl.edu	37	chr4	155461841	155461841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaatgtccatgataatgccGtataacctaaagacaaagca	6	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:155461841G>A	ENST00000499023.2	-	10	970	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	PLRG1_ENST00000393905.2_Missense_Mutation_p.R282W|PLRG1_ENST00000302078.5_Missense_Mutation_p.R273W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	282					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGATAATGCCGTATAACCTAA	0.358																																																	0													103	98	100					4																	155461841		2203	4300	6503	SO:0001583	missense	5356			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.844C>T	4.37:g.155461841G>A	ENSP00000424417:p.Arg282Trp		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R282W	ENST00000499023.2	37	c.844	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126032	0.56721	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.61274	0.12;0.12;0.12	5.69	-0.183	0.13284	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.72836	-0.4172	10	0.87932	D	0	-20.7384	15.5219	0.75871	0.0:0.0:0.5462:0.4537	.	273;282	O43660-2;O43660	.;PLRG1_HUMAN	W	282;282;273	ENSP00000424417:R282W;ENSP00000377483:R282W;ENSP00000303191:R273W	ENSP00000303191:R273W	R	-	1	2	PLRG1	155681291	1.000000	0.71417	0.996000	0.52242	0.544000	0.35116	0.695000	0.25527	-0.252000	0.09528	-0.335000	0.08231	CGG	PLRG1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.358	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	G	NM_002669		155461841	-1	no_errors	ENST00000393905	ensembl	human	known	70_37	missense	SNP	0.998	A	A	155461841	G	A	155461841	3	1	131	1	0	0	0	0	1	0	0	0	12130	1144	40	2	724	2	PLRG1	4	155461841	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	836683	155461841	35692435	568	20708										
MAP9	79884	genome.wustl.edu	37	chr4	156296145	156296145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactcctttgtctggctgagCgagctgtaattgctcttatt	9	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:156296145C>T	ENST00000311277.4	-	3	367	c.104G>A	c.(103-105)cGc>cAc	p.R35H	MAP9_ENST00000515654.1_Missense_Mutation_p.R35H|MAP9_ENST00000379248.2_5'UTR|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	35					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCTGGCTGAGCGAGCTGTAAT	0.373																																																	0													164	149	154					4																	156296145		2203	4300	6503	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.104G>A	4.37:g.156296145C>T	ENSP00000310593:p.Arg35His		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.R35H	ENST00000311277.4	37	c.104	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378350	0.82682	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.09817	2.94;2.94;2.94	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000004	T	0.33265	0.0857	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.87578	0.754;0.998;0.998	T	0.03957	-1.0989	10	0.87932	D	0	-5.5136	14.2752	0.66175	0.0:1.0:0.0:0.0	.	35;35;35	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	H	35	ENSP00000310593:R35H;ENSP00000427402:R35H;ENSP00000394048:R35H	ENSP00000310593:R35H	R	-	2	0	MAP9	156515595	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.072000	0.57563	2.428000	0.82296	0.655000	0.94253	CGC	MAP9	-	NULL		0.373	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	C	NM_001039580		156296145	-1	no_errors	ENST00000311277	ensembl	human	known	70_37	missense	SNP	0.987	T	T	156296145	C	T	156296145	3	4	131	1	0	0	0	0	1	0	0	0	9293	768	27	2	1887	2	MAP9	4	156296145	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	834304	156296145	34858131	569	20709										
TLL1	7092	genome.wustl.edu	37	chr4	167021905	167021905	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccttcagccaccagaagaGatttattcaattggagattc	7	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:167021905G>T	ENST00000061240.2	+	21	3566	c.2919G>T	c.(2917-2919)gaG>gaT	p.E973D	TLL1_ENST00000507499.1_Missense_Mutation_p.E996D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	973	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CACCAGAAGAGATTTATTCAA	0.333																																																	0													129	136	134					4																	167021905		2203	4300	6503	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2919G>T	4.37:g.167021905G>T	ENSP00000061240:p.Glu973Asp		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.E973D	ENST00000061240.2	37	c.2919	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393618	0.42410	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17370	2.28;2.28	5.49	-1.84	0.07809	CUB (5);	0.065778	0.64402	U	0.000011	T	0.12774	0.0310	L	0.39692	1.235	0.80722	D	1	P;P	0.43857	0.819;0.656	B;B	0.42882	0.401;0.325	T	0.17048	-1.0382	10	0.13108	T	0.6	.	12.317	0.54962	0.7301:0.0:0.2699:0.0	.	996;973	E9PD25;O43897	.;TLL1_HUMAN	D	973;996	ENSP00000061240:E973D;ENSP00000426082:E996D	ENSP00000061240:E973D	E	+	3	2	TLL1	167241355	0.996000	0.38824	0.994000	0.49952	0.953000	0.61014	0.475000	0.22164	-0.180000	0.10637	0.591000	0.81541	GAG	TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	G			167021905	1	no_errors	ENST00000061240	ensembl	human	known	70_37	missense	SNP	0.935	T	T	167021905	G	T	167021905	3	4	131	1	0	0	0	0	1	0	0	0	15975	933	33	3	3001	3	TLL1	4	167021905	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	10725760	167021905	24132371	570	20710										
DDX60	55601	genome.wustl.edu	37	chr4	169158512	169158512	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaacaagattagaaggttCatgataatgcaaatgtgata	8	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:169158512C>A	ENST00000393743.3	-	32	4627	c.4336G>T	c.(4336-4338)Gaa>Taa	p.E1446*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1446					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAGAAGGTTCATGATAATGC	0.338																																																	0													64	62	62					4																	169158512		2203	4299	6502	SO:0001587	stop_gained	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4336G>T	4.37:g.169158512C>A	ENSP00000377344:p.Glu1446*		Q6PK35|Q9NVE3	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1446*	ENST00000393743.3	37	c.4336	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.060567	0.99717	.	.	ENSG00000137628	ENST00000393743	.	.	.	5.65	4.8	0.61643	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	13.6737	0.62440	0.0:0.9254:0.0:0.0746	.	.	.	.	X	1446	.	ENSP00000377344:E1446X	E	-	1	0	DDX60	169395087	0.995000	0.38212	0.993000	0.49108	0.964000	0.63967	3.389000	0.52516	2.681000	0.91329	0.563000	0.77884	GAA	DDX60	-	NULL		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169158512	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	169158512	C	A	169158512	4	1	131	1	0	0	0	0	0	1	0	0	4383	835	29	3	830	3	DDX60	4	169158512	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2136607	169158512	21995764	571	20711										
DDX60	55601	genome.wustl.edu	37	chr4	169208334	169208334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ataatctttcataatggtatCtcccaaattcaaatgtaggc	5	8	4	0	rs72693161	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:169208334C>A	ENST00000393743.3	-	10	1495	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	402					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAATGGTATCTCCCAAATTC	0.348																																																	0													71	69	70					4																	169208334		2203	4298	6501	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1204G>T	4.37:g.169208334C>A	ENSP00000377344:p.Asp402Tyr		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D402Y	ENST00000393743.3	37	c.1204	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019031	0.35606	.	.	ENSG00000137628	ENST00000393743	T	0.19532	2.14	4.72	-4.83	0.03161	.	0.929670	0.08987	N	0.865043	T	0.26048	0.0635	M	0.64997	1.995	0.09310	N	1	D	0.58970	0.984	P	0.50617	0.646	T	0.20207	-1.0282	10	0.62326	D	0.03	.	7.3402	0.26633	0.0:0.3146:0.1136:0.5719	.	402	Q8IY21	DDX60_HUMAN	Y	402	ENSP00000377344:D402Y	ENSP00000377344:D402Y	D	-	1	0	DDX60	169444909	0.000000	0.05858	0.004000	0.12327	0.504000	0.33889	-0.555000	0.05999	-1.071000	0.03145	-0.373000	0.07131	GAT	DDX60	-	NULL		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169208334	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.005	A	A	169208334	C	A	169208334	3	1	131	1	0	0	0	0	1	0	0	0	4383	913	32	3	4050	3	DDX60	4	169208334	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	49822	169208334	21945942	572	20712										
AADAT	51166	genome.wustl.edu	37	chr4	170990361	170990361	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtccatcaacatccatggaAagaaatgttggtaccctgaa	8	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:170990361A>C	ENST00000337664.4	-	7	1017	c.741T>G	c.(739-741)ctT>ctG	p.L247L	AADAT_ENST00000515480.1_Silent_p.L247L|AADAT_ENST00000353187.2_Silent_p.L247L|AADAT_ENST00000509167.1_Silent_p.L251L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	247					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CATCCATGGAAAGAAATGTTG	0.368																																																	0													68	66	66					4																	170990361		2203	4300	6503	SO:0001819	synonymous_variant	51166			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.741T>G	4.37:g.170990361A>C			B3KP84|Q9UL02	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L251	ENST00000337664.4	37	c.753	CCDS3814.1	4																																																																																			AADAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.368	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	A	NM_016228		170990361	-1	no_errors	ENST00000509167	ensembl	human	known	70_37	silent	SNP	0.994	C	C	170990361	A	C	170990361	2	2	131	1	0	0	0	0	0	0	0	1	14	1	1	5		5	AADAT	4	170990361	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1782027	170990361	20163915	573	20713										
GALNTL6	442117	genome.wustl.edu	37	chr4	173150836	173150836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgggcctgggagatgggcaAttctattcatggacagatgg	15	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:173150836A>G	ENST00000506823.1	+	3	825	c.168A>G	c.(166-168)caA>caG	p.Q56Q	GALNTL6_ENST00000508122.1_Silent_p.Q39Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	56					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGATGGGCAATTCTATTCAT	0.453																																																	0													118	103	108					4																	173150836		2203	4300	6503	SO:0001819	synonymous_variant	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.168A>G	4.37:g.173150836A>G			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q56	ENST00000506823.1	37	c.168	CCDS34104.1	4																																																																																			GALNTL6	-	NULL		0.453	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	A	NM_001034845		173150836	1	no_errors	ENST00000506823	ensembl	human	known	70_37	silent	SNP	1.000	G	G	173150836	A	G	173150836	2	3	131	1	0	0	0	0	0	0	0	1	6244	98	4	5		5	GALNTL6	4	173150836	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2160475	173150836	18003440	574	20714										
HPGD	3248	genome.wustl.edu	37	chr4	175439155	175439155	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagttttttcccagtttttCtcattattcactccagcatt	4	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:175439155C>A	ENST00000296522.6	-	3	737	c.291G>T	c.(289-291)gaG>gaT	p.E97D	HPGD_ENST00000541923.1_Intron|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000504433.1_Missense_Mutation_p.E97D|HPGD_ENST00000542498.1_Missense_Mutation_p.E97D|HPGD_ENST00000296521.7_Missense_Mutation_p.E97D|HPGD_ENST00000510901.1_5'UTR	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	97				E -> K (in Ref. 3; CAA57843). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CCCAGTTTTTCTCATTATTCA	0.274																																																	0													66	64	65					4																	175439155		2201	4292	6493	SO:0001583	missense	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.291G>T	4.37:g.175439155C>A	ENSP00000296522:p.Glu97Asp		B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E97D	ENST00000296522.6	37	c.291	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054929	0.75960	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000542498;ENST00000504433	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	6.08	4.14	0.48551	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	N	0.12443	0.215	0.50813	D	0.999897	D;P;D;D	0.76494	0.998;0.594;0.999;0.983	D;B;D;D	0.77004	0.989;0.252;0.971;0.934	T	0.76825	-0.2816	10	0.02654	T	1	.	4.929	0.13907	0.0:0.6278:0.0:0.3722	.	97;97;97;97	O00749;E9PBZ2;B4DV57;P15428	.;.;.;PGDH_HUMAN	D	97	ENSP00000296522:E97D;ENSP00000296521:E97D;ENSP00000443644:E97D;ENSP00000420892:E97D	ENSP00000296521:E97D	E	-	3	2	HPGD	175675730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.513000	0.35823	1.591000	0.50007	0.591000	0.81541	GAG	HPGD	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_ADH_insect,prints_DHB_DH		0.274	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175439155	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	missense	SNP	1.000	A	A	175439155	C	A	175439155	3	1	131	1	0	0	0	0	1	0	0	0	7354	912	32	3	529	3	HPGD	4	175439155	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2288319	175439155	15715121	575	20715										
GLRA3	8001	genome.wustl.edu	37	chr4	175636664	175636664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagttgcattatacatgtTtgtacatccatgggaaaatt	7	7	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:175636664T>G	ENST00000274093.3	-	5	1051	c.549A>C	c.(547-549)caA>caC	p.Q183H	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q183H	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	183					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTATACATGTTTGTACATCCA	0.284																																																	0													80	82	81					4																	175636664		2203	4294	6497	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.549A>C	4.37:g.175636664T>G	ENSP00000274093:p.Gln183His		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.Q183H	ENST00000274093.3	37	c.549	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761075	0.69763	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.84944	-1.92;-1.92	5.49	1.61	0.23674	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90031	0.6887	M	0.75777	2.31	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.88060	0.2793	10	0.87932	D	0	.	9.1518	0.36967	0.0:0.2171:0.0:0.7829	.	183;183	O75311-2;O75311	.;GLRA3_HUMAN	H	183	ENSP00000274093:Q183H;ENSP00000345284:Q183H	ENSP00000274093:Q183H	Q	-	3	2	GLRA3	175873239	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.710000	0.25748	0.055000	0.16094	0.528000	0.53228	CAA	GLRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.284	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	T			175636664	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	175636664	T	G	175636664	3	3	131	1	0	0	0	0	1	0	0	0	6475	1838	64	5	869	5	GLRA3	4	175636664	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	197509	175636664	15517612	576	20716										
ODZ3	55714	genome.wustl.edu	37	chr4	183676343	183676343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggactggaattagttttgtTtacttaccatggcaatagtg	10	5	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:183676343T>G	ENST00000511685.1	+	22	4946	c.4823T>G	c.(4822-4824)tTt>tGt	p.F1608C	TENM3_ENST00000406950.2_Missense_Mutation_p.F1608C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1608					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTAGTTTTGTTTACTTACCAT	0.368																																																	0													100	100	100					4																	183676343		1910	4141	6051	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4823T>G	4.37:g.183676343T>G	ENSP00000424226:p.Phe1608Cys		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F1608C	ENST00000511685.1	37	c.4823	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682408	0.47991	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16897	2.31;2.31	5.28	5.28	0.74379	.	.	.	.	.	T	0.21921	0.0528	L	0.52905	1.665	0.51482	D	0.99992	D	0.58620	0.983	B	0.43783	0.431	T	0.02015	-1.1229	9	0.87932	D	0	.	15.3703	0.74557	0.0:0.0:0.0:1.0	.	1608	Q9P273	TEN3_HUMAN	C	1608	ENSP00000424226:F1608C;ENSP00000385276:F1608C	ENSP00000385276:F1608C	F	+	2	0	ODZ3	183913337	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.864000	0.87037	2.210000	0.71456	0.455000	0.32223	TTT	TENM3	-	NULL		0.368	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	T			183676343	1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183676343	T	G	183676343	3	3	131	1	0	0	0	0	1	0	0	0	10860	1841	64	5	4905	5	ODZ3	4	183676343	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	8039679	183676343	7477933	577	20717										
ODZ3	55714	genome.wustl.edu	37	chr4	183720913	183720913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcaagggcgtcatgctggcCgtcagccagggccgcgtgca	17	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:183720913C>T	ENST00000511685.1	+	28	7632	c.7509C>T	c.(7507-7509)gcC>gcT	p.A2503A	TENM3_ENST00000406950.2_Silent_p.A2503A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2503					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCATGCTGGCCGTCAGCCAGG	0.677																																																	0													16	20	19					4																	183720913		2192	4268	6460	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7509C>T	4.37:g.183720913C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2503	ENST00000511685.1	37	c.7509	CCDS47165.1	4																																																																																			TENM3	-	NULL		0.677	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	C			183720913	1	no_errors	ENST00000406950	ensembl	human	known	70_37	silent	SNP	1.000	T	T	183720913	C	T	183720913	2	4	131	1	0	0	0	0	0	0	0	1	10860	639	23	2		2	ODZ3	4	183720913	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	44570	183720913	7433363	578	20718										
MLF1IP	79682	genome.wustl.edu	37	chr4	185622015	185622015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaatcatacgctgccttttCttttcgatatctgaaatcat	4	10	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:185622015C>A	ENST00000281453.5	-	11	1015	c.945G>T	c.(943-945)aaG>aaT	p.K315N	MLF1IP_ENST00000541971.1_Missense_Mutation_p.K315N|MLF1IP_ENST00000506535.1_Intron	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGCCTTTTCTTTTCGATAT	0.373																																																	0													159	142	148					4																	185622015		2203	4300	6503	SO:0001583	missense	79682																														ENST00000281453.5:c.945G>T	4.37:g.185622015C>A	ENSP00000281453:p.Lys315Asn			Missense_Mutation	SNP	NULL	p.K315N	ENST00000281453.5	37	c.945	CCDS3838.1	4	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406921	0.62399	.	.	ENSG00000151725	ENST00000281453;ENST00000541971	T;T	0.35421	1.31;1.31	4.94	4.94	0.65067	.	0.186567	0.37715	N	0.001979	T	0.58524	0.2128	M	0.72894	2.215	0.51012	D	0.999909	D	0.69078	0.997	D	0.71184	0.972	T	0.62006	-0.6945	10	0.72032	D	0.01	-9.5424	15.1939	0.73071	0.0:1.0:0.0:0.0	.	315	Q71F23	CENPU_HUMAN	N	315	ENSP00000281453:K315N;ENSP00000445862:K315N	ENSP00000281453:K315N	K	-	3	2	MLF1IP	185859009	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.171000	0.58236	2.546000	0.85860	0.563000	0.77884	AAG	MLF1IP	-	NULL		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	HGNC	protein_coding	OTTHUMT00000360841.2	C			185622015	-1	no_errors	ENST00000281453	ensembl	human	known	70_37	missense	SNP	1.000	A	A	185622015	C	A	185622015	3	1	131	1	0	0	0	0	1	0	0	0	9638	912	32	3	323	3	MLF1IP	4	185622015	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1901102	185622015	5532261	579	20719										
KIAA1430	57587	genome.wustl.edu	37	chr4	186112193	186112193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtttgcattccagtgttcGaatttacattttttgtatct	6	6	1	0	rs373566490		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:186112193G>A	ENST00000458385.2	-	2	277	c.158C>T	c.(157-159)tCg>tTg	p.S53L	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S53L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S53L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		53								p.S53L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TCCAGTGTTCGAATTTACATT	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LEU/SER	2,3646		0,2,1822	115	101	105		158	2.9	0	4		105	0,8156		0,0,4078	no	missense	KIAA1430	NM_020827.1	145	0,2,5900	AA,AG,GG		0.0,0.0548,0.0169	benign	53/533	186112193	2,11802	1824	4078	5902	SO:0001583	missense	57587																														ENST00000458385.2:c.158C>T	4.37:g.186112193G>A	ENSP00000409964:p.Ser53Leu		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	NULL	p.S53L	ENST00000458385.2	37	c.158	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.386832	0.01194	5.48E-4	0.0	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775;ENST00000503223	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	2.86	0.33363	.	1.191590	0.06039	N	0.654595	T	0.11367	0.0277	N	0.00138	-2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18935	-1.0321	10	0.07175	T	0.84	0.4491	9.94	0.41574	0.86:0.0:0.14:0.0	.	53;53	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	L	53	ENSP00000409964:S53L;ENSP00000423312:S53L;ENSP00000296775:S53L;ENSP00000420832:S53L	ENSP00000296775:S53L	S	-	2	0	KIAA1430	186349187	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	0.152000	0.16302	0.440000	0.26502	-0.290000	0.09829	TCG	KIAA1430	-	NULL		0.343	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	G			186112193	-1	no_errors	ENST00000296775	ensembl	human	known	70_37	missense	SNP	0.089	A	A	186112193	G	A	186112193	3	1	131	1	0	0	0	0	1	0	0	0	8252	1059	37	1	1456	1	KIAA1430	4	186112193	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	490178	186112193	5042083	580	20720										
UFSP2	55325	genome.wustl.edu	37	chr4	186339923	186339923	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtgccttcttgagaaaaatTtctaaattaaaagaatataa	5	4	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:186339923T>G	ENST00000264689.6	-	3	200	c.84A>C	c.(82-84)gaA>gaC	p.E28D	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	28						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGAGAAAAATTTCTAAATTAA	0.323																																																	0													27	28	28					4																	186339923		2202	4299	6501	SO:0001630	splice_region_variant	55325			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.83-1A>C	4.37:g.186339923T>G			Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.E28D	ENST00000264689.6	37	c.84	CCDS3842.1	4	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765169	0.31228	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.49139	1.5;0.79	5.87	0.323	0.15893	.	0.331275	0.31760	N	0.007107	T	0.30603	0.0770	L	0.33485	1.01	0.28012	N	0.934869	B	0.02656	0.0	B	0.01281	0.0	T	0.15378	-1.0439	10	0.31617	T	0.26	.	7.8478	0.29435	0.1567:0.0:0.2932:0.5502	.	28	Q9NUQ7	UFSP2_HUMAN	D	28;22	ENSP00000264689:E28D;ENSP00000423108:E22D	ENSP00000264689:E28D	E	-	3	2	UFSP2	186576917	0.947000	0.32204	0.979000	0.43373	0.927000	0.56198	-0.039000	0.12124	0.435000	0.26365	0.482000	0.46254	GAA	UFSP2	-	NULL		0.323	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	T	NM_018359	Missense_Mutation	186339923	-1	no_errors	ENST00000264689	ensembl	human	known	70_37	missense	SNP	0.555	G	G	186339923	T	G	186339923	5	3	131	1	0	0	0	0	0	0	1	0	16969	1855	64	5	1365	5	UFSP2	4	186339923	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	227730	186339923	4814353	581	20721										
MTNR1A	4543	genome.wustl.edu	37	chr4	187455702	187455702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaccgctaagctcaccacaAagatgtttcctgaaagagaa	7	12	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:187455702A>G	ENST00000307161.5	-	2	395	c.194T>C	c.(193-195)tTt>tCt	p.F65S	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	65					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTCACCACAAAGATGTTTCC	0.458																																																	0													46	49	48					4																	187455702		2203	4300	6503	SO:0001583	missense	4543				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.194T>C	4.37:g.187455702A>G	ENSP00000302811:p.Phe65Ser		A0AVC5|B0M0L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C	p.F65S	ENST00000307161.5	37	c.194	CCDS3848.1	4	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290469	0.80914	.	.	ENSG00000168412	ENST00000307161	T	0.79845	-1.31	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96325	0.9239	10	0.87932	D	0	-15.6579	14.9906	0.71384	1.0:0.0:0.0:0.0	.	65	P48039	MTR1A_HUMAN	S	65	ENSP00000302811:F65S	ENSP00000302811:F65S	F	-	2	0	MTNR1A	187692696	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.157000	0.94714	1.939000	0.56221	0.533000	0.62120	TTT	MTNR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.458	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1A	HGNC	protein_coding	OTTHUMT00000360189.1	A			187455702	-1	no_errors	ENST00000307161	ensembl	human	known	70_37	missense	SNP	1.000	G	G	187455702	A	G	187455702	3	3	131	1	0	0	0	0	1	0	0	0	9974	14	1	5	862	5	MTNR1A	4	187455702	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1115779	187455702	3698574	582	20722										
ZDHHC11	79844	genome.wustl.edu	37	chr5	848731	848731	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccgggtcgatgcaggacgcGatcaggtggacgacgaggtg	19	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:848731G>A	ENST00000283441.8	-	2	650	c.267C>T	c.(265-267)atC>atT	p.I89I	ZDHHC11_ENST00000424784.2_Silent_p.I89I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	89						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGCAGGACGCGATCAGGTGGA	0.592																																																	0													32	27	28					5																	848731		2193	4266	6459	SO:0001819	synonymous_variant	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.267C>T	5.37:g.848731G>A			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I89	ENST00000283441.8	37	c.267	CCDS3857.1	5																																																																																			ZDHHC11	-	NULL		0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	G	NM_024786		848731	-1	no_errors	ENST00000283441	ensembl	human	known	70_37	silent	SNP	0.000	A	A	848731	G	A	848731	2	1	131	1	0	0	0	0	0	0	0	1	17631	1048	37	1		1	ZDHHC11	5	848731	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09		848731	180066529	583	20723										
SLC6A18	348932	genome.wustl.edu	37	chr5	1244730	1244730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcatctggtgcaggttctgcGatgacattgcgtggatgacc	14	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1244730G>A	ENST00000324642.3	+	11	1627	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	502					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGGTTCTGCGATGACATTGC	0.617																																																	0													54	55	55					5																	1244730		2202	4300	6502	SO:0001583	missense	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1504G>A	5.37:g.1244730G>A	ENSP00000323549:p.Asp502Asn			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.D502N	ENST00000324642.3	37	c.1504	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816235	0.70912	.	.	ENSG00000164363	ENST00000324642	T	0.74737	-0.87	4.16	4.16	0.48862	.	0.392427	0.25307	N	0.031608	T	0.77491	0.4138	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.74827	-0.3532	10	0.33141	T	0.24	.	9.493	0.38971	0.1037:0.0:0.8963:0.0	.	502	Q96N87	S6A18_HUMAN	N	502	ENSP00000323549:D502N	ENSP00000323549:D502N	D	+	1	0	SLC6A18	1297730	0.998000	0.40836	0.055000	0.19348	0.037000	0.13140	2.622000	0.46427	1.875000	0.54330	0.561000	0.74099	GAT	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.617	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	G	NM_182632		1244730	1	no_errors	ENST00000324642	ensembl	human	known	70_37	missense	SNP	0.922	A	A	1244730	G	A	1244730	3	1	131	1	0	0	0	0	1	0	0	0	14711	1058	37	1	1546	1	SLC6A18	5	1244730	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	395999	1244730	179670530	584	20724										
NDUFS6	4726	genome.wustl.edu	37	chr5	1802490	1802490	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtaggtcgtcagaaagaggTgagtaaaaaatctagtgaag	13	3	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1802490T>C	ENST00000274137.5	+	2	204		c.e2+2		MRPL36_ENST00000382647.7_5'Flank|NDUFS6_ENST00000469176.1_Splice_Site|MRPL36_ENST00000505818.1_5'Flank|MRPL36_ENST00000505059.2_5'Flank|MRPL36_ENST00000508987.1_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)						cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CAGAAAGAGGTGAGTAAAAAA	0.308																																																	0			GRCh37	CS042823	NDUFS6	S							85	91	89					5																	1802490		2203	4300	6503	SO:0001630	splice_region_variant	4726			BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7713	protein-coding gene	gene with protein product	"complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"	603848	"NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.186+2T>C	5.37:g.1802490T>C				Splice_Site	SNP	-	e2+2	ENST00000274137.5	37	c.186+2	CCDS3866.1	5	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314643	0.23908	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.074	0.48021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFS6	1855490	1.000000	0.71417	0.890000	0.34922	0.281000	0.26958	4.937000	0.63513	1.591000	0.50007	0.456000	0.33151	.	NDUFS6	-	-		0.308	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS6	HGNC	protein_coding	OTTHUMT00000206744.2	T	NM_004553	Intron	1802490	1	no_errors	ENST00000274137	ensembl	human	known	70_37	splice_site	SNP	0.998	C	C	1802490	T	C	1802490	5	2	131	1	0	0	0	0	0	0	1	0	10320	1710	59	5	194	5	NDUFS6	5	1802490	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	557760	1802490	179112770	585	20725										
IRX4	50805	genome.wustl.edu	37	chr5	1879762	1879762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttctccttcttgaggcgccGgcgcgcgttggcgaaccagg	15	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1879762G>A	ENST00000505790.1	-	5	1048	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.R198W|IRX4_ENST00000231357.2_Missense_Mutation_p.R198W	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	198					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTGAGGCGCCGGCGCGCGTTG	0.647																																																	0													106	88	94					5																	1879762		2203	4300	6503	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.592C>T	5.37:g.1879762G>A	ENSP00000423161:p.Arg198Trp		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.R198W	ENST00000505790.1	37	c.592	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112101	0.77210	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.93953	-3.32;-3.32;-3.32	4.55	3.67	0.42095	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.058100	0.64402	D	0.000004	D	0.97176	0.9077	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96495	0.9367	10	0.87932	D	0	-24.7689	6.3391	0.21312	0.0972:0.0:0.7183:0.1844	.	198	P78413	IRX4_HUMAN	W	198	ENSP00000231357:R198W;ENSP00000423161:R198W;ENSP00000424235:R198W	ENSP00000231357:R198W	R	-	1	2	IRX4	1932762	0.719000	0.27986	1.000000	0.80357	0.997000	0.91878	0.843000	0.27640	2.067000	0.61834	0.462000	0.41574	CGG	IRX4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.647	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	G	NM_016358		1879762	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1879762	G	A	1879762	3	1	131	1	0	0	0	0	1	0	0	0	7866	1115	39	2	975	2	IRX4	5	1879762	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	77272	1879762	179035498	586	20726										
IRX4	50805	genome.wustl.edu	37	chr5	1881980	1881980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtagttgccatagccctgcGatccgccatagggaccccca	10	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1881980G>A	ENST00000505790.1	-	3	695	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_Missense_Mutation_p.S80L|IRX4_ENST00000231357.2_Missense_Mutation_p.S80L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	80					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		ATAGCCCTGCGATCCGCCATA	0.687																																																	0													13	15	14					5																	1881980		2172	4268	6440	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.239C>T	5.37:g.1881980G>A	ENSP00000423161:p.Ser80Leu		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.S80L	ENST00000505790.1	37	c.239	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	g	14.77	2.634193	0.47049	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;T	0.67345	-0.25;-0.25;-0.25;-0.26	3.9	3.9	0.45041	.	0.352416	0.25625	U	0.029395	T	0.49609	0.1567	L	0.43923	1.385	0.33579	D	0.599661	P	0.49253	0.921	B	0.29524	0.103	T	0.67715	-0.5599	10	0.48119	T	0.1	-10.823	11.7327	0.51746	0.0:0.1802:0.8198:0.0	.	80	P78413	IRX4_HUMAN	L	80	ENSP00000231357:S80L;ENSP00000423161:S80L;ENSP00000424235:S80L;ENSP00000421772:S80L	ENSP00000231357:S80L	S	-	2	0	IRX4	1934980	0.594000	0.26849	0.996000	0.52242	0.403000	0.30841	2.049000	0.41288	1.896000	0.54893	0.461000	0.40582	TCG	IRX4	-	NULL		0.687	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	G	NM_016358		1881980	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	0.996	A	A	1881980	G	A	1881980	3	1	131	1	0	0	0	0	1	0	0	0	7866	1059	37	1	1336	1	IRX4	5	1881980	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2218	1881980	179033280	587	20727										
C5orf38	153571	genome.wustl.edu	37	chr5	2755148	2755148	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtccctgcaacagccaaaGaatttagaacgagtctacgt	8	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:2755148G>T	ENST00000334000.3	+	4	527	c.410G>T	c.(409-411)aGa>aTa	p.R137I	IRX2_ENST00000502957.1_5'Flank|C5orf38_ENST00000505778.1_3'UTR|C5orf38_ENST00000397835.4_Missense_Mutation_p.K113N|C5orf38_ENST00000457752.2_Missense_Mutation_p.R69I	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	137						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AACAGCCAAAGAATTTAGAAC	0.562																																																	0													89	100	97					5																	2755148		2203	4300	6503	SO:0001583	missense	153571			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.410G>T	5.37:g.2755148G>T	ENSP00000334267:p.Arg137Ile			Missense_Mutation	SNP	NULL	p.R137I	ENST00000334000.3	37	c.410	CCDS34131.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.433|8.433	0.849059|0.849059	0.17034|0.17034	.|.	.|.	ENSG00000186493|ENSG00000186493	ENST00000397835|ENST00000457752;ENST00000334000	.|.	.|.	.|.	3.09|3.09	2.19|2.19	0.27852|0.27852	.|.	.|.	.|.	.|.	.|.	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.18310	.|0.027	.|B	.|0.19946	.|0.027	T|T	0.18967|0.18967	-1.0320|-1.0320	6|8	0.87932|0.87932	D|D	0|0	.|.	5.3906|5.3906	0.16242|0.16242	0.1636:0.0:0.8364:0.0|0.1636:0.0:0.8364:0.0	.|.	.|137	.|Q86SI9	.|CEI_HUMAN	N|I	113|69;137	.|.	ENSP00000380935:K113N|ENSP00000334267:R137I	K|R	+|+	3|2	2|0	C5orf38|C5orf38	2808148|2808148	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.007000|0.007000	0.05969|0.05969	0.184000|0.184000	0.16939|0.16939	0.846000|0.846000	0.35142|0.35142	0.561000|0.561000	0.74099|0.74099	AAG|AGA	C5orf38	-	NULL		0.562	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf38	HGNC	protein_coding	OTTHUMT00000365956.2	G	NM_178569		2755148	1	no_errors	ENST00000334000	ensembl	human	known	70_37	missense	SNP	0.005	T	T	2755148	G	T	2755148	3	4	131	1	0	0	0	0	1	0	0	0	2301	942	33	3	424	3	C5orf38	5	2755148	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	873168	2755148	178160112	588	20728										
KIAA0947	23379	genome.wustl.edu	37	chr5	5466580	5466580	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaactcggagacttggaaaGagctcgtttgttttgctaca	11	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:5466580G>T	ENST00000296564.7	+	14	6248	c.6026G>T	c.(6025-6027)aGa>aTa	p.R2009I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2009					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GACTTGGAAAGAGCTCGTTTG	0.393																																																	0													163	150	154					5																	5466580		1864	4087	5951	SO:0001583	missense	23379																														ENST00000296564.7:c.6026G>T	5.37:g.5466580G>T	ENSP00000296564:p.Arg2009Ile		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.R2009I	ENST00000296564.7	37	c.6026	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488771	0.84962	.	.	ENSG00000164151	ENST00000296564	T	0.14893	2.47	5.66	5.66	0.87406	.	.	.	.	.	T	0.40171	0.1106	L	0.56769	1.78	0.49483	D	0.99979	D	0.71674	0.998	D	0.77004	0.989	T	0.08973	-1.0696	9	0.87932	D	0	-12.9619	17.2442	0.87022	0.0:0.0:1.0:0.0	.	2009	Q9Y2F5	K0947_HUMAN	I	2009	ENSP00000296564:R2009I	ENSP00000296564:R2009I	R	+	2	0	KIAA0947	5519580	1.000000	0.71417	0.820000	0.32676	0.995000	0.86356	5.504000	0.66968	2.675000	0.91044	0.557000	0.71058	AGA	KIAA0947	-	NULL		0.393	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5466580	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5466580	G	T	5466580	3	4	131	1	0	0	0	0	1	0	0	0	8222	942	33	3	6080	3	KIAA0947	5	5466580	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2711432	5466580	175448680	589	20729										
FASTKD3	79072	genome.wustl.edu	37	chr5	7867647	7867647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacatgcaacagaatcagagCttgcaaagcagtcactaaac	7	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:7867647C>T	ENST00000264669.5	-	2	686	c.550G>A	c.(550-552)Gct>Act	p.A184T	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	184					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A184T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAATCAGAGCTTGCAAAGCA	0.433																																																	1	Substitution - Missense(1)	breast(1)											80	79	79					5																	7867647		2203	4300	6503	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.550G>A	5.37:g.7867647C>T	ENSP00000264669:p.Ala184Thr		Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.A184T	ENST00000264669.5	37	c.550	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215487	0.79352	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.28895	1.59;1.59;1.59	4.96	3.08	0.35506	.	0.107172	0.64402	D	0.000006	T	0.47930	0.1472	M	0.72894	2.215	0.47511	D	0.999441	D	0.56968	0.978	P	0.57776	0.827	T	0.49123	-0.8972	10	0.52906	T	0.07	-11.2512	13.4095	0.60933	0.3166:0.6834:0.0:0.0	.	184	Q14CZ7	FAKD3_HUMAN	T	184;184;167	ENSP00000264669:A184T;ENSP00000426008:A184T;ENSP00000422443:A167T	ENSP00000264669:A184T	A	-	1	0	FASTKD3	7920647	0.931000	0.31567	0.340000	0.25575	0.776000	0.43924	1.962000	0.40442	0.592000	0.29728	-0.284000	0.09977	GCT	FASTKD3	-	NULL		0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	C	NM_024091		7867647	-1	no_errors	ENST00000264669	ensembl	human	known	70_37	missense	SNP	0.993	T	T	7867647	C	T	7867647	3	4	131	1	0	0	0	0	1	0	0	0	5705	797	28	4	1462	4	FASTKD3	5	7867647	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2401067	7867647	173047613	590	20730										
FAM105A	54491	genome.wustl.edu	37	chr5	14602325	14602325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattttggcggcatcacattAaatgtgttcgacaagtaagg	10	6	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:14602325A>G	ENST00000274217.3	+	5	502	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	128	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GCATCACATTAAATGTGTTCG	0.353																																																	0													108	103	105					5																	14602325		2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.382A>G	5.37:g.14602325A>G	ENSP00000274217:p.Lys128Glu		Q53H50|Q9H037	Missense_Mutation	SNP	prints_FAM105,prints_FAM105A	p.K128E	ENST00000274217.3	37	c.382	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545861	0.65198	.	.	ENSG00000145569	ENST00000274217	T	0.16073	2.37	4.7	3.49	0.39957	.	0.070853	0.56097	D	0.000021	T	0.31827	0.0809	L	0.50919	1.6	0.30022	N	0.814264	D	0.71674	0.998	D	0.80764	0.994	T	0.10800	-1.0614	10	0.30854	T	0.27	-19.2759	11.4921	0.50387	0.8493:0.1507:0.0:0.0	.	128	Q9NUU6	F105A_HUMAN	E	128	ENSP00000274217:K128E	ENSP00000274217:K128E	K	+	1	0	FAM105A	14655325	1.000000	0.71417	0.936000	0.37596	0.993000	0.82548	3.331000	0.52075	0.718000	0.32166	0.454000	0.30748	AAA	FAM105A	-	NULL		0.353	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	A	NM_019018		14602325	1	no_errors	ENST00000274217	ensembl	human	known	70_37	missense	SNP	0.997	G	G	14602325	A	G	14602325	3	3	131	1	0	0	0	0	1	0	0	0	5402	363	13	5	400	5	FAM105A	5	14602325	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	6734678	14602325	166312935	591	20731										
CDH12	1010	genome.wustl.edu	37	chr5	21975495	21975495	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtctaagtcggaatggagCtttagggaagagaaggagag	16	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:21975495C>T	ENST00000382254.1	-	6	1318		c.e6-1		CDH12_ENST00000504376.2_Splice_Site|CDH12_ENST00000522262.1_Splice_Site	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGGAATGGAGCTTTAGGGAag	0.438										HNSCC(59;0.17)																																							0													46	48	47					5																	21975495		2044	3882	5926	SO:0001630	splice_region_variant	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.232-1G>A	5.37:g.21975495C>T			B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	-	e2-1	ENST00000382254.1	37	c.232-1	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437384	0.83885	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8619	0.92276	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH12	22011252	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.397000	0.79903	2.472000	0.83506	0.484000	0.47621	.	CDH12	-	-		0.438	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	C	NM_004061	Intron	21975495	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	21975495	C	T	21975495	5	4	131	1	0	0	0	0	0	0	1	0	3103	811	28	4	2193	4	CDH12	5	21975495	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7373170	21975495	158939765	592	20732										
PRDM9	56979	genome.wustl.edu	37	chr5	23524514	23524514	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaccacaggcagatcttctAtagaacctgccgagtcatta	8	11	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:23524514A>T	ENST00000296682.3	+	10	1204	c.1022A>T	c.(1021-1023)tAt>tTt	p.Y341F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	341	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGATCTTCTATAGAACCTGC	0.547										HNSCC(3;0.000094)																																							0													61	65	64					5																	23524514		1898	4106	6004	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1022A>T	5.37:g.23524514A>T	ENSP00000296682:p.Tyr341Phe		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Y341F	ENST00000296682.3	37	c.1022	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529311	0.64860	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.73363	-0.74	4.23	4.23	0.50019	SET domain (2);	.	.	.	.	T	0.57021	0.2025	N	0.25094	0.71	0.34089	D	0.660522	P	0.38473	0.633	B	0.32805	0.153	T	0.67413	-0.5677	9	0.40728	T	0.16	-10.8609	10.0182	0.42027	1.0:0.0:0.0:0.0	.	341	Q9NQV7	PRDM9_HUMAN	F	341;135	ENSP00000296682:Y341F	ENSP00000253473:Y135F	Y	+	2	0	PRDM9	23560271	0.989000	0.36119	1.000000	0.80357	0.944000	0.59088	1.543000	0.36147	1.687000	0.51057	0.487000	0.48397	TAT	PRDM9	-	pfscan_SET_dom		0.547	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	A	NM_020227		23524514	1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23524514	A	T	23524514	3	4	131	1	0	0	0	0	1	0	0	0	12490	449	16	5	1056	5	PRDM9	5	23524514	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1549019	23524514	157390746	593	20733										
PRDM9	56979	genome.wustl.edu	37	chr5	23526462	23526462	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcccaggaccatctgcaaGaaaactcctccaaccagaga	6	15	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:23526462G>T	ENST00000296682.3	+	11	1447	c.1265G>T	c.(1264-1266)aGa>aTa	p.R422I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	422					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCATCTGCAAGAAAACTCCTC	0.483										HNSCC(3;0.000094)																																							0													112	107	109					5																	23526462		2203	4300	6503	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1265G>T	5.37:g.23526462G>T	ENSP00000296682:p.Arg422Ile		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R422I	ENST00000296682.3	37	c.1265	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595435	0.66219	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09350	2.99	3.37	0.259	0.15583	.	0.592602	0.14137	N	0.338943	T	0.07999	0.0200	L	0.50333	1.59	0.41309	D	0.987096	P	0.45902	0.868	B	0.37144	0.242	T	0.33979	-0.9847	10	0.52906	T	0.07	-5.7599	3.8496	0.08949	0.2414:0.0:0.5649:0.1937	.	422	Q9NQV7	PRDM9_HUMAN	I	422;216	ENSP00000296682:R422I	ENSP00000253473:R216I	R	+	2	0	PRDM9	23562219	0.001000	0.12720	0.527000	0.27925	0.261000	0.26267	0.757000	0.26433	0.146000	0.19002	0.505000	0.49811	AGA	PRDM9	-	NULL		0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23526462	1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	0.994	T	T	23526462	G	T	23526462	3	4	131	1	0	0	0	0	1	0	0	0	12490	942	33	3	1303	3	PRDM9	5	23526462	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1948	23526462	157388798	594	20734										
CDH10	1008	genome.wustl.edu	37	chr5	24487975	24487975	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtgcggtggggtcaagatCatgctcttttagcctttcat	13	8	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:24487975C>A	ENST00000264463.4	-	12	2671	c.2164G>T	c.(2164-2166)Gat>Tat	p.D722Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	722					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGTCAAGATCATGCTCTTTT	0.443										HNSCC(23;0.051)																																							0													103	108	106					5																	24487975		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2164G>T	5.37:g.24487975C>A	ENSP00000264463:p.Asp722Tyr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D722Y	ENST00000264463.4	37	c.2164	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958863	0.74016	.	.	ENSG00000040731	ENST00000264463	D	0.81821	-1.54	5.92	5.92	0.95590	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.95112	0.8239	10	0.87932	D	0	.	19.3088	0.94175	0.0:1.0:0.0:0.0	.	722	Q9Y6N8	CAD10_HUMAN	Y	722	ENSP00000264463:D722Y	ENSP00000264463:D722Y	D	-	1	0	CDH10	24523732	1.000000	0.71417	0.983000	0.44433	0.797000	0.45037	7.702000	0.84576	2.809000	0.96659	0.655000	0.94253	GAT	CDH10	-	pfam_Cadherin_cytoplasmic-dom		0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24487975	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24487975	C	A	24487975	3	1	131	1	0	0	0	0	1	0	0	0	3101	826	29	3	206	3	CDH10	5	24487975	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	961513	24487975	156427285	595	20735										
CDH10	1008	genome.wustl.edu	37	chr5	24491741	24491741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggccccagtgctgaggccgGcagggaggagcagggcttca	18	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:24491741G>A	ENST00000264463.4	-	11	2327	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	607					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTGAGGCCGGCAGGGAGGAG	0.522										HNSCC(23;0.051)																																							0													117	107	111					5																	24491741		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1820C>T	5.37:g.24491741G>A	ENSP00000264463:p.Ala607Val		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A607V	ENST00000264463.4	37	c.1820	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786369	0.49997	.	.	ENSG00000040731	ENST00000264463	T	0.55413	0.52	5.89	5.89	0.94794	.	0.055073	0.64402	D	0.000001	T	0.55816	0.1944	L	0.60012	1.86	0.47621	D	0.999471	B	0.24132	0.098	B	0.32805	0.153	T	0.48525	-0.9028	10	0.28530	T	0.3	.	19.2409	0.93883	0.0:0.0:1.0:0.0	.	607	Q9Y6N8	CAD10_HUMAN	V	607	ENSP00000264463:A607V	ENSP00000264463:A607V	A	-	2	0	CDH10	24527498	1.000000	0.71417	0.215000	0.23724	0.991000	0.79684	6.304000	0.72800	2.788000	0.95919	0.557000	0.71058	GCC	CDH10	-	NULL		0.522	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	G	NM_006727		24491741	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	0.987	A	A	24491741	G	A	24491741	3	1	131	1	0	0	0	0	1	0	0	0	3101	1203	42	4	554	4	CDH10	5	24491741	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3766	24491741	156423519	596	20736										
PDZD2	23037	genome.wustl.edu	37	chr5	32053919	32053919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcgagactgcattcgtggAcagatggggatttttgtcaa	14	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:32053919A>G	ENST00000438447.1	+	10	2218	c.1830A>G	c.(1828-1830)ggA>ggG	p.G610G	PDZD2_ENST00000282493.3_Silent_p.G610G			O15018	PDZD2_HUMAN	PDZ domain containing 2	610	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCATTCGTGGACAGATGGGGA	0.488																																																	0													206	182	190					5																	32053919		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1830A>G	5.37:g.32053919A>G			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G610	ENST00000438447.1	37	c.1830	CCDS34137.1	5																																																																																			PDZD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.488	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	A			32053919	1	no_errors	ENST00000282493	ensembl	human	known	70_37	silent	SNP	0.945	G	G	32053919	A	G	32053919	2	3	131	1	0	0	0	0	0	0	0	1	11725	262	10	5		5	PDZD2	5	32053919	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	7562178	32053919	148861341	597	20737										
DNAJC21	134218	genome.wustl.edu	37	chr5	34945078	34945078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagacctcaaattgatgaaAatccattagatgacaattct	5	8	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:34945078A>C	ENST00000342382.4	+	8	1317	c.1090A>C	c.(1090-1092)Aat>Cat	p.N364H	DNAJC21_ENST00000303525.7_Missense_Mutation_p.N364H|DNAJC21_ENST00000382021.2_Missense_Mutation_p.N364H			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	364	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AATTGATGAAAATCCATTAGA	0.358																																																	0													93	97	95					5																	34945078		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1090A>C	5.37:g.34945078A>C	ENSP00000343728:p.Asn364His		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.N364H	ENST00000342382.4	37	c.1090	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360595	0.61403	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.45276	0.9;0.91;0.92	6.07	4.92	0.64577	.	0.289993	0.43260	D	0.000596	T	0.56352	0.1979	M	0.62723	1.935	0.30731	N	0.747267	D;D;D	0.89917	0.995;0.98;1.0	D;P;D	0.78314	0.94;0.641;0.991	T	0.57854	-0.7739	10	0.27785	T	0.31	-33.1516	8.9252	0.35637	0.7972:0.0:0.2028:0.0	.	364;364;364	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	H	364	ENSP00000343728:N364H;ENSP00000371451:N364H;ENSP00000306289:N364H	ENSP00000306289:N364H	N	+	1	0	DNAJC21	34980835	0.297000	0.24408	0.974000	0.42286	0.899000	0.52679	0.721000	0.25911	1.122000	0.41944	0.533000	0.62120	AAT	DNAJC21	-	NULL		0.358	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	A	NM_194283		34945078	1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	0.985	C	C	34945078	A	C	34945078	3	2	131	1	0	0	0	0	1	0	0	0	4650	14	1	5	1120	5	DNAJC21	5	34945078	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2891159	34945078	145970182	598	20738										
SKP2	6502	genome.wustl.edu	37	chr5	36183987	36183987	+	3'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccggttggactctgacatCggatgccctcaaacatacag	9	12	2	1	rs374749102		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:36183987C>T	ENST00000274255.6	+	0	3325				SKP2_ENST00000274254.5_Silent_p.I369I	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTCTGACATCGGATGCCCTC	0.363																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	98	94	95		1107	2	0	5		95	0,8600		0,0,4300	no	coding-synonymous	SKP2	NM_032637.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		369/411	36183987	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1854C>T	5.37:g.36183987C>T			A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.I369	ENST00000274255.6	37	c.1107	CCDS3916.1	5																																																																																			SKP2	-	NULL		0.363	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SKP2	HGNC	protein_coding	OTTHUMT00000253769.2	C	NM_005983		36183987	1	no_errors	ENST00000274254	ensembl	human	known	70_37	silent	SNP	0.018	T	T	36183987	C	T	36183987	1	4	131	0	1	0	0	0	0	0	0	0	14392	874	31	1		1	SKP2	5	36183987	3'UTR	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1238909	36183987	144731273	599	20739										
RANBP3L	202151	genome.wustl.edu	37	chr5	36271364	36271364	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcaatcttaccttaaaagtTtgttctcccttttcaaaaac	3	10	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:36271364T>G	ENST00000296604.3	-	2	626	c.141A>C	c.(139-141)caA>caC	p.Q47H	RANBP3L_ENST00000515759.1_Missense_Mutation_p.Q47H|RANBP3L_ENST00000502994.1_Missense_Mutation_p.Q47H	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	47					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCTTAAAAGTTTGTTCTCCCT	0.323																																																	0													59	64	62					5																	36271364		2202	4299	6501	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.141A>C	5.37:g.36271364T>G	ENSP00000296604:p.Gln47His		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.Q47H	ENST00000296604.3	37	c.141	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	T	3.137	-0.177109	0.06380	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.50548	1.78;1.71;1.79;0.74	5.6	-1.75	0.08031	.	0.763645	0.12445	N	0.468322	T	0.29588	0.0738	L	0.31065	0.9	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.27020	-1.0086	10	0.14252	T	0.57	0.5126	9.7206	0.40300	0.1062:0.0:0.4459:0.448	.	47;47	E9PGP9;Q86VV4	.;RNB3L_HUMAN	H	47	ENSP00000296604:Q47H;ENSP00000421853:Q47H;ENSP00000421149:Q47H;ENSP00000427147:Q47H	ENSP00000296604:Q47H	Q	-	3	2	RANBP3L	36307121	0.662000	0.27439	0.283000	0.24790	0.644000	0.38419	0.066000	0.14489	-0.737000	0.04824	-3.075000	0.00066	CAA	RANBP3L	-	NULL		0.323	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	T	NM_145000		36271364	-1	no_errors	ENST00000296604	ensembl	human	known	70_37	missense	SNP	0.591	G	G	36271364	T	G	36271364	3	3	131	1	0	0	0	0	1	0	0	0	13060	1838	64	5	1387	5	RANBP3L	5	36271364	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	87377	36271364	144643896	600	20740										
NIPBL	25836	genome.wustl.edu	37	chr5	37044825	37044825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgggcttgtttcaatagaTactatggtaagttcaatacc	9	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:37044825T>G	ENST00000282516.8	+	36	6836	c.6337T>G	c.(6337-6339)Tac>Gac	p.Y2113D	NIPBL_ENST00000448238.2_Missense_Mutation_p.Y2113D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2113					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCAATAGATACTATGGTAA	0.368																																																	0													36	38	37					5																	37044825		2202	4299	6501	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6337T>G	5.37:g.37044825T>G	ENSP00000282516:p.Tyr2113Asp		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y2113D	ENST00000282516.8	37	c.6337	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096893	0.76870	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.91843	-2.92;-2.92	5.8	5.8	0.92144	Armadillo-type fold (1);	0.064498	0.64402	D	0.000005	D	0.95252	0.8460	M	0.71036	2.16	0.51012	D	0.999901	D;D	0.89917	0.999;1.0	D;D	0.76575	0.972;0.988	D	0.95301	0.8403	10	0.59425	D	0.04	-4.5781	13.2549	0.60073	0.0:0.0:0.1319:0.8681	.	2113;2113	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	2113	ENSP00000282516:Y2113D;ENSP00000406266:Y2113D	ENSP00000282516:Y2113D	Y	+	1	0	NIPBL	37080582	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.973000	0.70456	2.227000	0.72691	0.524000	0.50904	TAC	NIPBL	-	superfamily_ARM-type_fold		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	T	NM_015384		37044825	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37044825	T	G	37044825	3	3	131	1	0	0	0	0	1	0	0	0	10452	1406	49	5	6475	5	NIPBL	5	37044825	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	773461	37044825	143870435	601	20741										
LIFR	3977	genome.wustl.edu	37	chr5	38506637	38506637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgtagcttgtagcacgtggGcccaccaacgctgtcaccct	11	14	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:38506637G>A	ENST00000263409.4	-	8	1251	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.G363G	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	363	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TAGCACGTGGGCCCACCAACG	0.413			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													104	101	102					5																	38506637		2203	4300	6503	SO:0001819	synonymous_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1089C>T	5.37:g.38506637G>A			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G363	ENST00000263409.4	37	c.1089	CCDS3927.1	5																																																																																			LIFR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.413	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	G	NM_002310		38506637	-1	no_errors	ENST00000263409	ensembl	human	known	70_37	silent	SNP	0.998	A	A	38506637	G	A	38506637	2	1	131	1	0	0	0	0	0	0	0	1	8800	1190	42	4		4	LIFR	5	38506637	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1461812	38506637	142408623	602	20742										
RICTOR	253260	genome.wustl.edu	37	chr5	38963010	38963010	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatatctttctgaactcggaGatactgatcccgtttctggt	8	9	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:38963010G>T	ENST00000357387.3	-	17	1564	c.1534C>A	c.(1534-1536)Ctc>Atc	p.L512I	RICTOR_ENST00000296782.5_Missense_Mutation_p.L512I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGAACTCGGAGATACTGATCC	0.358																																																	0													159	149	153					5																	38963010		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1534C>A	5.37:g.38963010G>T	ENSP00000349959:p.Leu512Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L512I	ENST00000357387.3	37	c.1534	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	15.44	2.832965	0.50951	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.44881	0.92;0.91	5.76	5.76	0.90799	Armadillo-type fold (1);	0.165039	0.47852	D	0.000212	T	0.39226	0.1070	L	0.29908	0.895	0.38081	D	0.936671	B;P	0.40476	0.017;0.718	B;B	0.41764	0.009;0.366	T	0.42241	-0.9463	10	0.87932	D	0	-9.7863	17.8322	0.88686	0.0:0.0:1.0:0.0	.	512;512	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	512	ENSP00000349959:L512I;ENSP00000296782:L512I	ENSP00000296782:L512I	L	-	1	0	RICTOR	38998767	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.220000	0.58567	2.880000	0.98712	0.650000	0.86243	CTC	RICTOR	-	superfamily_ARM-type_fold		0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38963010	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38963010	G	T	38963010	3	4	131	1	0	0	0	0	1	0	0	0	13388	942	33	3	3680	3	RICTOR	5	38963010	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	456373	38963010	141952250	603	20743										
PTGER4	5734	genome.wustl.edu	37	chr5	40681118	40681118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtccactcccggggtcaattCgtccgcctccttgagccccg	10	18	1	1	rs371545658		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:40681118C>T	ENST00000302472.3	+	2	1047	c.23C>T	c.(22-24)tCg>tTg	p.S8L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	8					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GGGGTCAATTCGTCCGCCTCC	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LEU/SER	0,4406		0,0,2203	58	60	59		23	4.4	0.1	5		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTGER4	NM_000958.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	8/489	40681118	1,13005	2203	4300	6503	SO:0001583	missense	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.23C>T	5.37:g.40681118C>T	ENSP00000302846:p.Ser8Leu	895	Q3MJ87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S8L	ENST00000302472.3	37	c.23	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717279	0.30413	0.0	1.16E-4	ENSG00000171522	ENST00000302472	T	0.53423	0.62	5.24	4.36	0.52297	.	0.320352	0.26582	N	0.023562	T	0.29256	0.0728	N	0.19112	0.55	0.09310	N	1	B	0.20261	0.043	B	0.09377	0.004	T	0.07908	-1.0748	10	0.36615	T	0.2	-8.582	8.2676	0.31824	0.0:0.7105:0.2014:0.0881	.	8	P35408	PE2R4_HUMAN	L	8	ENSP00000302846:S8L	ENSP00000302846:S8L	S	+	2	0	PTGER4	40716875	0.000000	0.05858	0.106000	0.21319	0.486000	0.33341	0.380000	0.20602	2.457000	0.83068	0.462000	0.41574	TCG	PTGER4	-	prints_Prost_EP4_rcpt		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681118	1	no_errors	ENST00000302472	ensembl	human	known	70_37	missense	SNP	0.018	T	T	40681118	C	T	40681118	3	4	131	1	0	0	0	0	1	0	0	0	12773	893	31	1	25	1	PTGER4	5	40681118	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1718108	40681118	140234142	604	20744										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41048537	41048537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattgcaccagccccacgtaActcccctaaactggcaggca	7	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:41048537A>C	ENST00000399564.4	-	16	2023	c.1573T>G	c.(1573-1575)Tta>Gta	p.L525V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L80V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	525																	GCCCCACGTAACTCCCCTAAA	0.438																																																	0													83	77	78					5																	41048537		1865	4100	5965	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1573T>G	5.37:g.41048537A>C	ENSP00000382476:p.Leu525Val		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L525V	ENST00000399564.4	37	c.1573	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	6.167	0.399070	0.11696	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07688	3.17;3.17	4.87	3.73	0.42828	Armadillo-type fold (1);	0.818936	0.10365	N	0.683575	T	0.07052	0.0179	L	0.47716	1.5	0.09310	N	1	P	0.37330	0.59	B	0.30572	0.117	T	0.23332	-1.0191	10	0.23891	T	0.37	.	6.6699	0.23062	0.8973:0.0:0.1027:0.0	.	525	Q7Z745	HTRB2_HUMAN	V	80;229;525	ENSP00000441504:L80V;ENSP00000382476:L525V	ENSP00000296803:L229V	L	-	1	2	HEATR7B2	41084294	0.358000	0.24947	0.612000	0.29024	0.085000	0.17905	2.536000	0.45693	2.168000	0.68352	0.533000	0.62120	TTA	HEATR7B2	-	superfamily_ARM-type_fold		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	A	NM_173489		41048537	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.083	C	C	41048537	A	C	41048537	3	2	131	1	0	0	0	0	1	0	0	0	7055	40	2	5	3292	5	HEATR7B2	5	41048537	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	367419	41048537	139866723	605	20745										
GHR	2690	genome.wustl.edu	37	chr5	42719201	42719201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagaaaacttccttatggAcaatgcctacttctgtgagg	8	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:42719201A>G	ENST00000230882.4	+	10	1782	c.1592A>G	c.(1591-1593)gAc>gGc	p.D531G	GHR_ENST00000357703.3_Missense_Mutation_p.D509G|GHR_ENST00000537449.1_Missense_Mutation_p.D344G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	531					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCCTTATGGACAATGCCTAC	0.493																																																	0													91	82	85					5																	42719201		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1592A>G	5.37:g.42719201A>G	ENSP00000230882:p.Asp531Gly		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D531G	ENST00000230882.4	37	c.1592	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	A	16.25	3.071259	0.55646	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.36340	1.26;1.26;1.26	6.08	6.08	0.98989	.	0.124191	0.64402	D	0.000001	T	0.57770	0.2076	M	0.81682	2.555	0.58432	D	0.999997	P	0.45212	0.853	P	0.53722	0.733	T	0.61667	-0.7016	10	0.66056	D	0.02	-15.5929	16.6512	0.85203	1.0:0.0:0.0:0.0	.	531	P10912	GHR_HUMAN	G	531;509;344	ENSP00000230882:D531G;ENSP00000350335:D509G;ENSP00000442206:D344G	ENSP00000230882:D531G	D	+	2	0	GHR	42754958	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.096000	0.64535	2.333000	0.79357	0.482000	0.46254	GAC	GHR	-	NULL		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	A	NM_000163		42719201	1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42719201	A	G	42719201	3	3	131	1	0	0	0	0	1	0	0	0	6390	275	10	5	1626	5	GHR	5	42719201	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1670664	42719201	138196059	606	20746										
HCN1	348980	genome.wustl.edu	37	chr5	45262042	45262042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcataaatttgaagcaaatCgtggcttttctgcgtctggg	10	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:45262042C>T	ENST00000303230.4	-	8	2711	c.2654G>A	c.(2653-2655)cGa>cAa	p.R885Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	885					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAGCAAATCGTGGCTTTTC	0.448																																																	0													92	108	102					5																	45262042		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2654G>A	5.37:g.45262042C>T	ENSP00000307342:p.Arg885Gln			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R885Q	ENST00000303230.4	37	c.2654	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644976	0.47258	.	.	ENSG00000164588	ENST00000303230	D	0.98075	-4.7	5.01	5.01	0.66863	.	0.128326	0.34411	N	0.003986	D	0.93051	0.7788	L	0.27053	0.805	0.35501	D	0.799797	P	0.47545	0.897	B	0.33339	0.162	D	0.95474	0.8554	10	0.66056	D	0.02	.	12.107	0.53818	0.0:0.9211:0.0:0.0789	.	885	O60741	HCN1_HUMAN	Q	885	ENSP00000307342:R885Q	ENSP00000307342:R885Q	R	-	2	0	HCN1	45297799	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.487000	0.83934	0.651000	0.88453	CGA	HCN1	-	NULL		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45262042	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45262042	C	T	45262042	3	4	131	1	0	0	0	0	1	0	0	0	7016	884	31	1	22	1	HCN1	5	45262042	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2542841	45262042	135653218	607	20747										
HCN1	348980	genome.wustl.edu	37	chr5	45303915	45303915	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaggcattgtagccaccagTttccgacagttgaagttgac	10	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:45303915T>G	ENST00000303230.4	-	6	1461	c.1404A>C	c.(1402-1404)aaA>aaC	p.K468N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	468					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAGCCACCAGTTTCCGACAGT	0.358																																																	0													102	106	105					5																	45303915		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1404A>C	5.37:g.45303915T>G	ENSP00000307342:p.Lys468Asn			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.K468N	ENST00000303230.4	37	c.1404	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491886	0.44352	.	.	ENSG00000164588	ENST00000303230	D	0.96830	-4.14	5.62	-0.862	0.10673	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000001	D	0.89928	0.6857	N	0.25647	0.755	0.49299	D	0.999776	B	0.31040	0.305	B	0.21151	0.033	T	0.81239	-0.1023	10	0.34782	T	0.22	.	11.0692	0.47993	0.0:0.4662:0.0:0.5338	.	468	O60741	HCN1_HUMAN	N	468	ENSP00000307342:K468N	ENSP00000307342:K468N	K	-	3	2	HCN1	45339672	0.985000	0.35326	0.996000	0.52242	0.998000	0.95712	0.218000	0.17622	-0.056000	0.13221	0.533000	0.62120	AAA	HCN1	-	superfamily_cNMP-bd-like		0.358	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	T	NM_021072		45303915	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45303915	T	G	45303915	3	3	131	1	0	0	0	0	1	0	0	0	7016	1722	60	5	1280	5	HCN1	5	45303915	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	41873	45303915	135611345	608	20748										
HCN1	348980	genome.wustl.edu	37	chr5	45645494	45645494	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagctttttaaataattcatCttgatcactttggggtccag	7	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:45645494C>A	ENST00000303230.4	-	2	699	c.642G>T	c.(640-642)aaG>aaT	p.K214N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	214					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATAATTCATCTTGATCACTT	0.368																																																	0													89	83	85					5																	45645494		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.642G>T	5.37:g.45645494C>A	ENSP00000307342:p.Lys214Asn			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.K214N	ENST00000303230.4	37	c.642	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647589	0.67358	.	.	ENSG00000164588	ENST00000303230	D	0.97994	-4.65	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.97300	0.9117	M	0.61703	1.905	0.53688	D	0.999974	P	0.52170	0.951	P	0.53490	0.727	D	0.96837	0.9615	10	0.66056	D	0.02	.	9.7534	0.40490	0.0:0.8464:0.0:0.1536	.	214	O60741	HCN1_HUMAN	N	214	ENSP00000307342:K214N	ENSP00000307342:K214N	K	-	3	2	HCN1	45681251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.429000	0.44758	2.520000	0.84964	0.555000	0.69702	AAG	HCN1	-	pfam_Ion_trans_dom		0.368	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45645494	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45645494	C	A	45645494	3	1	131	1	0	0	0	0	1	0	0	0	7016	912	32	3	2058	3	HCN1	5	45645494	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	341579	45645494	135269766	609	20749										
ISL1	3670	genome.wustl.edu	37	chr5	50683411	50683411	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgctccaaggtgtatcacatCgagtgtttccgctgtgtggc	12	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:50683411C>T	ENST00000230658.7	+	3	891	c.306C>T	c.(304-306)atC>atT	p.I102I	ISL1_ENST00000511384.1_Silent_p.I102I|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	102	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTATCACATCGAGTGTTTCC	0.602																																																	0													50	53	52					5																	50683411		2106	4218	6324	SO:0001819	synonymous_variant	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.306C>T	5.37:g.50683411C>T			P20663|P47894	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.I102	ENST00000230658.7	37	c.306	CCDS43314.1	5	.	.	.	.	.	.	.	.	.	.	C	10.82	1.456987	0.26161	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.68	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0806	0.30741	0.1303:0.7327:0.0:0.1371	.	.	.	.	X	49	.	ENSP00000421737:R49X	R	+	1	2	ISL1	50719168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.215000	0.32431	0.354000	0.24105	0.555000	0.69702	CGA	ISL1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.602	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	C	NM_002202		50683411	1	no_errors	ENST00000230658	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50683411	C	T	50683411	2	4	131	1	0	0	0	0	0	0	0	1	7876	874	31	1		1	ISL1	5	50683411	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5037917	50683411	130231849	610	20750										
ITGA1	3672	genome.wustl.edu	37	chr5	52206101	52206101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatgagccatgcggggctcGttttggaactgcaattgctg	13	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:52206101G>A	ENST00000282588.6	+	14	2167	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	570					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGCGGGGCTCGTTTTGGAACT	0.463																																																	0													73	77	76					5																	52206101		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1709G>A	5.37:g.52206101G>A	ENSP00000282588:p.Arg570His		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R570H	ENST00000282588.6	37	c.1709	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721735	0.89298	.	.	ENSG00000213949	ENST00000282588	T	0.26518	1.73	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.51422	1.61	0.80722	D	1	D	0.58268	0.982	P	0.49752	0.621	T	0.04242	-1.0966	10	0.62326	D	0.03	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	570	P56199	ITA1_HUMAN	H	570	ENSP00000282588:R570H	ENSP00000282588:R570H	R	+	2	0	ITGA1	52241858	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.367000	0.97148	2.850000	0.98022	0.650000	0.86243	CGT	ITGA1	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.463	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52206101	1	no_errors	ENST00000282588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52206101	G	A	52206101	3	1	131	1	0	0	0	0	1	0	0	0	7892	1145	40	2	1763	2	ITGA1	5	52206101	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1522690	52206101	128709159	611	20751										
CCNO	10309	genome.wustl.edu	37	chr5	54527209	54527209	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgaaggatctgttttatttCgagctcgggggcaggctgca	14	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:54527209C>T	ENST00000282572.4	-	3	1203	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	349					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGTTTTATTTCGAGCTCGGGG	0.547																																																	0													62	65	64					5																	54527209		2203	4300	6503	SO:0001819	synonymous_variant	10309			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.1047G>A	5.37:g.54527209C>T			A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.S349	ENST00000282572.4	37	c.1047	CCDS34157.1	5																																																																																			CCNO	-	pirsf_Cyclin_A/B/D/E		0.547	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNO	HGNC	protein_coding	OTTHUMT00000369707.1	C	NM_021147		54527209	-1	no_errors	ENST00000282572	ensembl	human	known	70_37	silent	SNP	0.098	T	T	54527209	C	T	54527209	2	4	131	1	0	0	0	0	0	0	0	1	2938	871	31	1		1	CCNO	5	54527209	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2321108	54527209	126388051	612	20752										
IL6ST	3572	genome.wustl.edu	37	chr5	55237196	55237196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgtgaaatatctggactgGattcatgctgactgcagttc	10	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:55237196G>A	ENST00000381298.2	-	17	2783	c.2471C>T	c.(2470-2472)tCc>tTc	p.S824F	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Missense_Mutation_p.S824F|IL6ST_ENST00000502326.3_Missense_Mutation_p.S824F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.S763F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	824					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCTGGACTGGATTCATGCTG	0.393			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													93	95	94					5																	55237196		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2471C>T	5.37:g.55237196G>A	ENSP00000370698:p.Ser824Phe		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S824F	ENST00000381298.2	37	c.2471	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850386	0.32699	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.36340	1.49;1.49;1.26	5.73	3.92	0.45320	.	0.883617	0.10401	N	0.679210	T	0.19005	0.0456	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.19778	-1.0295	10	0.35671	T	0.21	.	6.4702	0.22003	0.2059:0.1331:0.661:0.0	.	824;763;824	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	F	824;824;763	ENSP00000370698:S824F;ENSP00000338799:S824F;ENSP00000370694:S763F	ENSP00000338799:S824F	S	-	2	0	IL6ST	55272953	0.034000	0.19679	0.400000	0.26346	0.966000	0.64601	0.378000	0.20569	0.858000	0.35431	0.557000	0.71058	TCC	IL6ST	-	NULL		0.393	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	G	NM_002184		55237196	-1	no_errors	ENST00000336909	ensembl	human	known	70_37	missense	SNP	0.001	A	A	55237196	G	A	55237196	3	1	131	1	0	0	0	0	1	0	0	0	7723	1174	41	1	289	1	IL6ST	5	55237196	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	709987	55237196	125678064	613	20753										
GPBP1	65056	genome.wustl.edu	37	chr5	56542249	56542249	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccgtcacagccagttaagAatggaactggtccaagtgtt	10	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:56542249A>C	ENST00000506184.2	+	7	1706	c.601A>C	c.(601-603)Aat>Cat	p.N201H	GPBP1_ENST00000264779.6_Missense_Mutation_p.N208H|GPBP1_ENST00000454432.2_Missense_Mutation_p.N221H|GPBP1_ENST00000511209.1_Missense_Mutation_p.N208H|GPBP1_ENST00000424459.3_Missense_Mutation_p.N221H|GPBP1_ENST00000514387.2_Missense_Mutation_p.N30H|GPBP1_ENST00000538707.1_Missense_Mutation_p.N208H			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	201					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCCAGTTAAGAATGGAACTGG	0.388																																																	0													72	76	75					5																	56542249		2203	4300	6503	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.601A>C	5.37:g.56542249A>C	ENSP00000421202:p.Asn201His		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.N221H	ENST00000506184.2	37	c.661	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708759	0.68615	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.52754	1.79;0.65;1.81;1.79;1.78;1.8;1.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.56769	1.78	0.38169	D	0.93926	P;B;B;B	0.46912	0.886;0.065;0.009;0.038	P;B;B;B	0.48166	0.569;0.022;0.015;0.022	T	0.55805	-0.8083	10	0.41790	T	0.15	-14.9909	9.934	0.41539	0.9241:0.0:0.0759:0.0	.	221;208;208;201	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	H	221;30;201;221;208;208;208	ENSP00000401596:N221H;ENSP00000421709:N30H;ENSP00000421202:N201H;ENSP00000403522:N221H;ENSP00000422337:N208H;ENSP00000264779:N208H;ENSP00000440090:N208H	ENSP00000264779:N208H	N	+	1	0	GPBP1	56578006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.154000	0.58125	2.063000	0.61619	0.533000	0.62120	AAT	GPBP1	-	NULL		0.388	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	A	NM_022913		56542249	1	no_errors	ENST00000424459	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56542249	A	C	56542249	3	2	131	1	0	0	0	0	1	0	0	0	6614	246	9	5	644	5	GPBP1	5	56542249	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1305053	56542249	124373011	614	20754										
HTR1A	3350	genome.wustl.edu	37	chr5	63256888	63256888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatgcggaagcgcgcagctCggaatatgcgcccatagaga	15	10	0	1	rs1800044	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:63256888C>T	ENST00000323865.3	-	1	892	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	220			R -> L (in dbSNP:rs1800044).		adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGCGCAGCTCGGAATATGCG	0.567																																																	0			GRCh37	CM960850	HTR1A	M	rs1800044						84	94	91					5																	63256888		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.659G>A	5.37:g.63256888C>T	ENSP00000316244:p.Arg220Gln		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.R220Q	ENST00000323865.3	37	c.659	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972496	0.18736	.	.	ENSG00000178394	ENST00000323865	T	0.39406	1.08	5.7	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.332618	0.28790	N	0.014134	T	0.24314	0.0589	L	0.38733	1.17	0.38729	D	0.953618	P	0.41546	0.754	B	0.31495	0.131	T	0.05582	-1.0876	10	0.21014	T	0.42	.	7.313	0.26485	0.0:0.782:0.0:0.218	.	220	P08908	5HT1A_HUMAN	Q	220	ENSP00000316244:R220Q	ENSP00000316244:R220Q	R	-	2	0	HTR1A	63292644	0.717000	0.27966	0.990000	0.47175	0.997000	0.91878	0.774000	0.26675	2.692000	0.91855	0.655000	0.94253	CGA	HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.567	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	C	NM_000524		63256888	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	0.995	T	T	63256888	C	T	63256888	3	4	131	1	0	0	0	0	1	0	0	0	7456	884	31	1	612	1	HTR1A	5	63256888	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6714639	63256888	117658372	615	20755										
HTR1A	3350	genome.wustl.edu	37	chr5	63257163	63257163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacctgtccagcgcgatggcGcacaggtgcaagatggatga	14	10	0	2	rs199699351		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:63257163G>A	ENST00000323865.3	-	1	617	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	128					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.C128C(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGCGATGGCGCACAGGTGCA	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)											69	64	66					5																	63257163		2203	4300	6503	SO:0001819	synonymous_variant	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.384C>T	5.37:g.63257163G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.C128	ENST00000323865.3	37	c.384	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257163	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63257163	G	A	63257163	2	1	131	1	0	0	0	0	0	0	0	1	7456	1079	38	2		2	HTR1A	5	63257163	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	275	63257163	117658097	616	20756										
CD180	4064	genome.wustl.edu	37	chr5	66478749	66478749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaatagcagaatagccaacAataatagaaatactatgaga	6	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:66478749A>G	ENST00000256447.4	-	3	2079	c.1922T>C	c.(1921-1923)tTg>tCg	p.L641S	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	641					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AATAGCCAACAATAATAGAAA	0.393																																																	0													62	64	63					5																	66478749		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1922T>C	5.37:g.66478749A>G	ENSP00000256447:p.Leu641Ser		B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L641S	ENST00000256447.4	37	c.1922	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	A	4.482	0.089361	0.08632	.	.	ENSG00000134061	ENST00000256447	T	0.38722	1.12	5.17	4.01	0.46588	.	0.788076	0.11096	N	0.600220	T	0.33323	0.0859	L	0.45228	1.405	0.09310	N	1	B	0.29378	0.243	B	0.22753	0.041	T	0.16129	-1.0413	10	0.32370	T	0.25	.	9.1589	0.37009	0.9139:0.0:0.0861:0.0	.	641	Q99467	CD180_HUMAN	S	641	ENSP00000256447:L641S	ENSP00000256447:L641S	L	-	2	0	CD180	66514505	0.001000	0.12720	0.009000	0.14445	0.053000	0.15095	1.372000	0.34261	0.986000	0.38683	0.460000	0.39030	TTG	CD180	-	NULL		0.393	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	A	NM_005582		66478749	-1	no_errors	ENST00000256447	ensembl	human	known	70_37	missense	SNP	0.010	G	G	66478749	A	G	66478749	3	3	131	1	0	0	0	0	1	0	0	0	2977	131	5	5	67	5	CD180	5	66478749	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3221586	66478749	114436511	617	20757										
OCLN	100506658	genome.wustl.edu	37	chr5	68840932	68840932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtcctgtgatgagctggaGgaggactggatcaggtaccg	17	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:68840932G>T	ENST00000355237.2	+	6	1675	c.1239G>T	c.(1237-1239)gaG>gaT	p.E413D	OCLN_ENST00000396442.2_Missense_Mutation_p.E413D|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000538151.1_Missense_Mutation_p.E162D|OCLN_ENST00000380766.2_Missense_Mutation_p.E359D|OCLN_ENST00000542132.1_Missense_Mutation_p.E91D	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	413					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGAGCTGGAGGAGGACTGGA	0.527																																																	0													90	77	82					5																	68840932		2202	4298	6500	SO:0001583	missense	100506658			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1239G>T	5.37:g.68840932G>T	ENSP00000347379:p.Glu413Asp		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin	p.E413D	ENST00000355237.2	37	c.1239	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	G	4.517	0.095871	0.08681	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766;ENST00000538151;ENST00000542132	T;T;D	0.84873	-0.99;-0.99;-1.91	4.92	3.99	0.46301	.	0.097543	0.64402	D	0.000001	T	0.68577	0.3016	N	0.19112	0.55	0.37260	D	0.906936	B	0.13594	0.008	B	0.12156	0.007	T	0.61676	-0.7014	10	0.05959	T	0.93	-40.068	7.9522	0.30021	0.0868:0.0:0.7528:0.1604	.	413	Q16625	OCLN_HUMAN	D	413;413;359;162;91	ENSP00000347379:E413D;ENSP00000379719:E413D;ENSP00000370143:E359D	ENSP00000347379:E413D	E	+	3	2	OCLN	68876688	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.081000	0.30791	2.446000	0.82766	0.644000	0.83932	GAG	OCLN	-	pirsf_Occludin		0.527	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	G	NM_002538		68840932	1	no_errors	ENST00000355237	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68840932	G	T	68840932	3	4	131	1	0	0	0	0	1	0	0	0	10844	991	35	4	1257	4	OCLN	5	68840932	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2362183	68840932	112074328	618	20758										
MAP1B	4131	genome.wustl.edu	37	chr5	71493364	71493364	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtctcctattgaaaaagtTttgtctcctttacgcagccc	7	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:71493364T>G	ENST00000296755.7	+	5	4480	c.4182T>G	c.(4180-4182)gtT>gtG	p.V1394V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1394					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGAAAAAGTTTTGTCTCCTT	0.478																																					Melanoma(17;367 822 11631 31730 47712)												0													56	58	57					5																	71493364		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4182T>G	5.37:g.71493364T>G			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.V1394	ENST00000296755.7	37	c.4182	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	T	NM_005909		71493364	1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	0.021	G	G	71493364	T	G	71493364	2	3	131	1	0	0	0	0	0	0	0	1	9251	1828	64	5		5	MAP1B	5	71493364	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2652432	71493364	109421896	619	20759										
MAP1B	4131	genome.wustl.edu	37	chr5	71495218	71495218	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tactcttatgaaaccactgaGaaaattaccagtttccctga	5	10	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:71495218G>T	ENST00000296755.7	+	5	6334	c.6036G>T	c.(6034-6036)gaG>gaT	p.E2012D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2012					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAACCACTGAGAAAATTACCA	0.468																																					Melanoma(17;367 822 11631 31730 47712)												0													138	150	146					5																	71495218		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6036G>T	5.37:g.71495218G>T	ENSP00000296755:p.Glu2012Asp		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E2012D	ENST00000296755.7	37	c.6036	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642403	0.29246	.	.	ENSG00000131711	ENST00000296755	T	0.03468	3.92	5.51	4.45	0.53987	.	0.087058	0.49916	D	0.000136	T	0.03053	0.0090	N	0.08118	0	0.29433	N	0.859722	P;P	0.51537	0.946;0.946	P;P	0.45753	0.492;0.492	T	0.42068	-0.9473	10	0.39692	T	0.17	-23.4525	13.0096	0.58724	0.1341:0.0:0.8658:0.0	.	1886;2012	A2BDK6;P46821	.;MAP1B_HUMAN	D	2012	ENSP00000296755:E2012D	ENSP00000296755:E2012D	E	+	3	2	MAP1B	71530974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.595000	0.46197	2.601000	0.87937	0.643000	0.83706	GAG	MAP1B	-	pfam_MAP1B_neuraxin		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71495218	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71495218	G	T	71495218	3	4	131	1	0	0	0	0	1	0	0	0	9251	933	33	3	6054	3	MAP1B	5	71495218	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1854	71495218	109420042	620	20760										
RGNEF	64283	genome.wustl.edu	37	chr5	73183492	73183492	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaaagaccagaaatacatCtttgcagccgttgtaagtat	8	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:73183492C>A	ENST00000426542.2	+	25	3395	c.3375C>A	c.(3373-3375)atC>atA	p.I1125I	ARHGEF28_ENST00000287898.5_Silent_p.I1125I|ARHGEF28_ENST00000545377.1_Silent_p.I1125I|ARHGEF28_ENST00000437974.1_Silent_p.I1125I|ARHGEF28_ENST00000512883.1_Silent_p.I89I|ARHGEF28_ENST00000296794.6_Silent_p.I1125I|ARHGEF28_ENST00000296799.4_Silent_p.I812I|ARHGEF28_ENST00000513042.2_Silent_p.I1125I			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1125	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AGAAATACATCTTTGCAGCCG	0.294																																																	0													72	65	67					5																	73183492		1805	4076	5881	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3375C>A	5.37:g.73183492C>A			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I1125	ENST00000426542.2	37	c.3375	CCDS54870.1	5																																																																																			ARHGEF28	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.294	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	C			73183492	1	no_errors	ENST00000545377	ensembl	human	known	70_37	silent	SNP	0.998	A	A	73183492	C	A	73183492	2	1	131	1	0	0	0	0	0	0	0	1	13313	903	32	3		3	RGNEF	5	73183492	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1688274	73183492	107731768	621	20761										
IQGAP2	10788	genome.wustl.edu	37	chr5	75967719	75967719	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagtggtaaaagagatcatCgacgacaagtcgctgattat	10	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:75967719C>T	ENST00000274364.6	+	24	3276	c.2979C>T	c.(2977-2979)atC>atT	p.I993I	IQGAP2_ENST00000502745.1_Silent_p.I489I|IQGAP2_ENST00000396234.3_Silent_p.I489I|IQGAP2_ENST00000379730.3_Silent_p.I495I	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	993	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAGATCATCGACGACAAGT	0.502																																																	0													66	67	67					5																	75967719		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2979C>T	5.37:g.75967719C>T			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.I993	ENST00000274364.6	37	c.2979	CCDS34188.1	5																																																																																			IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.502	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	C	NM_006633		75967719	1	no_errors	ENST00000274364	ensembl	human	known	70_37	silent	SNP	0.029	T	T	75967719	C	T	75967719	2	4	131	1	0	0	0	0	0	0	0	1	7835	874	31	1		1	IQGAP2	5	75967719	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2784227	75967719	104947541	622	20762										
WDR41	55255	genome.wustl.edu	37	chr5	76734176	76734176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ataaaccccttccaactgcaGcaaatacattctaggggaag	7	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:76734176G>T	ENST00000296679.4	-	10	1268	c.893C>A	c.(892-894)gCt>gAt	p.A298D	WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000414719.2_Missense_Mutation_p.A44D|WDR41_ENST00000507029.1_Missense_Mutation_p.A243D	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	298						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCCAACTGCAGCAAATACATT	0.458																																																	0													100	89	93					5																	76734176		2203	4300	6503	SO:0001583	missense	55255			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.893C>A	5.37:g.76734176G>T	ENSP00000296679:p.Ala298Asp		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A298D	ENST00000296679.4	37	c.893	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.044559|4.044559	0.75732|0.75732	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.16;1.9|.	5.75|5.75	3.94|3.94	0.45596|0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.174825|.	0.49916|.	D|.	0.000132|.	T|T	0.61198|0.61198	0.2328|0.2328	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.43909|.	0.821;0.821;0.747|.	P;P;B|.	0.48189|.	0.57;0.57;0.303|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.87932|.	D|.	0|.	-5.5247|-5.5247	11.4513|11.4513	0.50154|0.50154	0.148:0.0:0.852:0.0|0.148:0.0:0.852:0.0	.|.	243;44;298|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	D|M	298;44;233;243;69;90|124	ENSP00000296679:A298D;ENSP00000392931:A44D;ENSP00000426499:A233D;ENSP00000424287:A243D;ENSP00000427291:A69D;ENSP00000423540:A90D|.	ENSP00000296679:A298D|.	A|L	-|-	2|1	0|2	WDR41|WDR41	76769932|76769932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.388000|4.388000	0.59633|0.59633	0.857000|0.857000	0.35407|0.35407	0.650000|0.650000	0.86243|0.86243	GCT|CTG	WDR41	-	superfamily_WD40_repeat_dom		0.458	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2	G	NM_018268		76734176	-1	no_errors	ENST00000296679	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76734176	G	T	76734176	3	4	131	1	0	0	0	0	1	0	0	0	17325	971	34	4	502	4	WDR41	5	76734176	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	766457	76734176	104181084	623	20763										
CMYA5	202333	genome.wustl.edu	37	chr5	79029421	79029421	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacttcccatcagaaaaacaAgatgttgctttggcagagct	9	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:79029421A>T	ENST00000446378.2	+	2	4864	c.4833A>T	c.(4831-4833)caA>caT	p.Q1611H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1611					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAAAAACAAGATGTTGCTT	0.453																																																	0													109	109	109					5																	79029421		1872	4100	5972	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4833A>T	5.37:g.79029421A>T	ENSP00000394770:p.Gln1611His		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q1611H	ENST00000446378.2	37	c.4833	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998264	0.35226	.	.	ENSG00000164309	ENST00000446378	T	0.04234	3.67	5.08	-0.266	0.12942	.	1.476590	0.04054	N	0.305233	T	0.05227	0.0139	L	0.39898	1.24	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.43294	-0.9400	10	0.56958	D	0.05	.	3.457	0.07519	0.5421:0.0:0.2805:0.1774	.	1611	Q8N3K9	CMYA5_HUMAN	H	1611	ENSP00000394770:Q1611H	ENSP00000394770:Q1611H	Q	+	3	2	CMYA5	79065177	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.589000	0.23939	-0.279000	0.09167	0.533000	0.62120	CAA	CMYA5	-	NULL		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	A	NM_153610		79029421	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.001	T	T	79029421	A	T	79029421	3	4	131	1	0	0	0	0	1	0	0	0	3595	69	3	5	4839	5	CMYA5	5	79029421	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2295245	79029421	101885839	624	20764										
SPZ1	84654	genome.wustl.edu	37	chr5	79616659	79616659	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgcacaagtttttgcaagaGatttggtaaatcgtttagaa	9	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:79616659G>T	ENST00000296739.4	+	1	870	c.625G>T	c.(625-627)Gat>Tat	p.D209Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	209	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D209Y(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTTGCAAGAGATTTGGTAAA	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											63	58	59					5																	79616659		1820	4070	5890	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.625G>T	5.37:g.79616659G>T	ENSP00000369611:p.Asp209Tyr		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	NULL	p.D209Y	ENST00000296739.4	37	c.625	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778255	0.49786	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.58797	0.31;1.29	4.45	1.49	0.22878	.	1.016950	0.07865	N	0.966985	T	0.64702	0.2622	L	0.47190	1.495	0.09310	N	1	D	0.58268	0.982	P	0.60012	0.867	T	0.51857	-0.8652	10	0.52906	T	0.07	-10.6905	8.2206	0.31539	0.0894:0.3624:0.5482:0.0	.	209	Q9BXG8	SPZ1_HUMAN	Y	209	ENSP00000426530:D209Y;ENSP00000369611:D209Y	ENSP00000369611:D209Y	D	+	1	0	SPZ1	79652415	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	0.366000	0.20365	0.285000	0.22329	0.563000	0.77884	GAT	SPZ1	-	NULL		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1	G	NM_032567		79616659	1	no_errors	ENST00000296739	ensembl	human	known	70_37	missense	SNP	0.001	T	T	79616659	G	T	79616659	3	4	131	1	0	0	0	0	1	0	0	0	15157	942	33	3	627	3	SPZ1	5	79616659	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	587238	79616659	101298601	625	20765										
ANKRD34B	340120	genome.wustl.edu	37	chr5	79854475	79854475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgagatgggagggtgagaaTttacatttaagggtgggaga	17	2	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:79854475T>C	ENST00000338682.3	-	5	2036	c.1364A>G	c.(1363-1365)aAt>aGt	p.N455S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	455						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGTGAGAATTTACATTTAA	0.423																																																	0													156	161	159					5																	79854475		2203	4300	6503	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1364A>G	5.37:g.79854475T>C	ENSP00000339802:p.Asn455Ser		B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N455S	ENST00000338682.3	37	c.1364	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	T	8.652	0.898407	0.17686	.	.	ENSG00000189127	ENST00000338682	T	0.22539	1.95	6.04	-1.68	0.08212	.	0.193731	0.33364	N	0.004983	T	0.12475	0.0303	L	0.37630	1.12	0.43766	D	0.99628	B	0.13145	0.007	B	0.09377	0.004	T	0.13953	-1.0490	10	0.25751	T	0.34	-7.9713	7.4964	0.27492	0.0:0.4206:0.1381:0.4413	.	455	A5PLL1	AN34B_HUMAN	S	455	ENSP00000339802:N455S	ENSP00000339802:N455S	N	-	2	0	ANKRD34B	79890231	0.999000	0.42202	0.026000	0.17262	0.781000	0.44180	1.842000	0.39250	-0.262000	0.09392	-0.371000	0.07208	AAT	ANKRD34B	-	NULL		0.423	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	T	NM_001004441		79854475	-1	no_errors	ENST00000338682	ensembl	human	known	70_37	missense	SNP	0.945	C	C	79854475	T	C	79854475	3	2	131	1	0	0	0	0	1	0	0	0	663	1493	52	5	184	5	ANKRD34B	5	79854475	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	237816	79854475	101060785	626	20766										
VCAN	1462	genome.wustl.edu	37	chr5	82815884	82815884	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttacggtgtcaaagacttcaGaagacaccatccacactcat	6	12	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:82815884G>T	ENST00000265077.3	+	7	2324	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Nonsense_Mutation_p.E587*|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.E539*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	587	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGACTTCAGAAGACACCAT	0.413																																																	0													119	118	119					5																	82815884		2203	4300	6503	SO:0001587	stop_gained	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1759G>T	5.37:g.82815884G>T	ENSP00000265077:p.Glu587*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E587*	ENST00000265077.3	37	c.1759	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.502093	0.98322	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	.	.	.	5.87	5.0	0.66597	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.5297	0.67915	0.0:0.146:0.854:0.0	.	.	.	.	X	587;587;539	.	ENSP00000265077:E587X	E	+	1	0	VCAN	82851640	1.000000	0.71417	0.977000	0.42913	0.256000	0.26092	3.203000	0.51075	1.481000	0.48307	0.655000	0.94253	GAA	VCAN	-	NULL		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82815884	1	no_errors	ENST00000265077	ensembl	human	known	70_37	nonsense	SNP	0.993	T	T	82815884	G	T	82815884	4	4	131	1	0	0	0	0	0	1	0	0	17169	943	33	3	1781	3	VCAN	5	82815884	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2961409	82815884	98099376	627	20767										
VCAN	1462	genome.wustl.edu	37	chr5	82834583	82834583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaccaaattatggggcagaaAtaaggggcttttccacaggt	11	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:82834583A>C	ENST00000265077.3	+	8	6326	c.5761A>C	c.(5761-5763)Ata>Cta	p.I1921L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I934L|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1921	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGGGCAGAAATAAGGGGCTT	0.408																																																	0													96	102	100					5																	82834583		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5761A>C	5.37:g.82834583A>C	ENSP00000265077:p.Ile1921Leu		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.I1921L	ENST00000265077.3	37	c.5761	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	4.569	0.105647	0.08780	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85702	-2.01;-2.02;3.08	5.9	-0.809	0.10864	.	0.548054	0.19075	N	0.123395	T	0.72095	0.3418	L	0.42245	1.32	0.09310	N	0.999998	B;B	0.14438	0.004;0.01	B;B	0.12156	0.007;0.005	T	0.53767	-0.8392	10	0.26408	T	0.33	.	1.8701	0.03207	0.3843:0.1725:0.3229:0.1202	.	934;1921	P13611-2;P13611	.;CSPG2_HUMAN	L	1921;934;934	ENSP00000265077:I1921L;ENSP00000340062:I934L;ENSP00000426251:I934L	ENSP00000265077:I1921L	I	+	1	0	VCAN	82870339	0.000000	0.05858	0.010000	0.14722	0.045000	0.14185	-0.759000	0.04761	0.173000	0.19788	0.533000	0.62120	ATA	VCAN	-	NULL		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	A	NM_004385		82834583	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.001	C	C	82834583	A	C	82834583	3	2	131	1	0	0	0	0	1	0	0	0	17169	101	4	5	5787	5	VCAN	5	82834583	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	18699	82834583	98080677	628	20768										
VCAN	1462	genome.wustl.edu	37	chr5	82849188	82849188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgtttcttctcagataccGagacatgtgactatggctgg	10	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:82849188G>A	ENST00000265077.3	+	11	10064	c.9499G>A	c.(9499-9501)Gag>Aag	p.E3167K	VCAN_ENST00000502527.2_Missense_Mutation_p.E426K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.E1413K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2180K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1365K|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3167					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTCAGATACCGAGACATGTGA	0.493																																																	0													108	96	100					5																	82849188		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9499G>A	5.37:g.82849188G>A	ENSP00000265077:p.Glu3167Lys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E3167K	ENST00000265077.3	37	c.9499	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432261	0.83776	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	6.06	6.06	0.98353	C-type lectin-like (1);	0.000000	0.64402	D	0.000006	T	0.33440	0.0863	N	0.25825	0.765	0.54753	D	0.999988	D;D;P;D	0.89917	1.0;0.999;0.929;1.0	D;P;P;D	0.91635	0.997;0.868;0.868;0.999	T	0.02411	-1.1163	10	0.62326	D	0.03	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1413;426;2180;3167	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	K	3167;2180;1413;1365;426	ENSP00000265077:E3167K;ENSP00000340062:E2180K;ENSP00000342768:E1413K;ENSP00000425959:E1365K;ENSP00000421362:E426K	ENSP00000265077:E3167K	E	+	1	0	VCAN	82884944	1.000000	0.71417	0.970000	0.41538	0.371000	0.29859	5.517000	0.67061	2.882000	0.98803	0.655000	0.94253	GAG	VCAN	-	NULL		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82849188	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82849188	G	A	82849188	3	1	131	1	0	0	0	0	1	0	0	0	17169	1059	37	1	9537	1	VCAN	5	82849188	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	14605	82849188	98066072	629	20769										
RASA1	5921	genome.wustl.edu	37	chr5	86658380	86658380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaattcaggatcaagaacaaGtactcaatgacacagtggat	8	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:86658380G>T	ENST00000274376.6	+	10	1909	c.1345G>T	c.(1345-1347)Gta>Tta	p.V449L	RASA1_ENST00000456692.2_Missense_Mutation_p.V272L|RASA1_ENST00000512763.1_Missense_Mutation_p.V282L|RASA1_ENST00000506290.1_Missense_Mutation_p.V283L	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	449					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAGAACAAGTACTCAATGA	0.289																																																	0													64	68	66					5																	86658380		2203	4297	6500	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1345G>T	5.37:g.86658380G>T	ENSP00000274376:p.Val449Leu		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.V449L	ENST00000274376.6	37	c.1345	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483452	0.84854	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.28	5.28	0.74379	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.14012	0.009;0.002;0.002;0.0;0.008	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.003	T	0.71210	-0.4660	10	0.18276	T	0.48	.	14.5032	0.67737	0.0731:0.0:0.9269:0.0	.	283;282;283;272;449	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	L	449;482;272;282;283	ENSP00000274376:V449L;ENSP00000411221:V272L;ENSP00000422008:V282L;ENSP00000420905:V283L	ENSP00000274376:V449L	V	+	1	0	RASA1	86694136	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.888000	0.87302	2.614000	0.88457	0.455000	0.32223	GTA	RASA1	-	NULL		0.289	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	G	NM_002890		86658380	1	no_errors	ENST00000274376	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86658380	G	T	86658380	3	4	131	1	0	0	0	0	1	0	0	0	13090	1029	36	4	1395	4	RASA1	5	86658380	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3809192	86658380	94256880	630	20770										
MEF2C	4208	genome.wustl.edu	37	chr5	88100485	88100485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtacttgagaagcactttgTccatgtcggtgctggcatac	11	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:88100485T>C	ENST00000437473.2	-	3	605	c.188A>G	c.(187-189)gAc>gGc	p.D63G	MEF2C_ENST00000424173.2_Missense_Mutation_p.D63G|MEF2C_ENST00000506554.1_Missense_Mutation_p.D63G|MEF2C_ENST00000539796.1_Missense_Mutation_p.D63G|MEF2C_ENST00000514028.1_Missense_Mutation_p.D63G|MEF2C_ENST00000510942.1_Missense_Mutation_p.D63G|MEF2C_ENST00000508569.1_Missense_Mutation_p.D63G|MEF2C_ENST00000504921.2_Missense_Mutation_p.D63G|MEF2C_ENST00000340208.5_Missense_Mutation_p.D63G|MEF2C_ENST00000514015.1_Missense_Mutation_p.D63G	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	63					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AAGCACTTTGTCCATGTCGGT	0.532										HNSCC(66;0.2)																																							0													173	156	162					5																	88100485		2203	4300	6503	SO:0001583	missense	4208			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.188A>G	5.37:g.88100485T>C	ENSP00000396219:p.Asp63Gly		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.D63G	ENST00000437473.2	37	c.188	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	T	33	5.207851	0.95033	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.5	5.5	0.81552	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.90363	0.6984	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;1.0	D;D;D;D	0.97110	0.941;1.0;0.991;0.999	D	0.91494	0.5214	10	0.87932	D	0	-9.3635	15.6133	0.76744	0.0:0.0:0.0:1.0	.	63;63;63;63	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	G	63	ENSP00000340874:D63G;ENSP00000389610:D63G;ENSP00000421925:D63G;ENSP00000426665:D63G;ENSP00000396219:D63G;ENSP00000422390:D63G;ENSP00000425636:D63G;ENSP00000423597:D63G;ENSP00000424606:D63G;ENSP00000441153:D63G;ENSP00000423826:D63G;ENSP00000423656:D63G;ENSP00000424331:D63G;ENSP00000427163:D63G;ENSP00000426442:D63G;ENSP00000427286:D63G;ENSP00000426465:D63G	ENSP00000340874:D63G	D	-	2	0	MEF2C	88136241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	GAC	MEF2C	-	superfamily_TF_MADSbox		0.532	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	T	NM_002397		88100485	-1	no_errors	ENST00000437473	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88100485	T	C	88100485	3	2	131	1	0	0	0	0	1	0	0	0	9480	1667	58	5	1411	5	MEF2C	5	88100485	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1442105	88100485	92814775	631	20771										
GPR98	84059	genome.wustl.edu	37	chr5	90041539	90041539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcccaaaggaggagcagagaTtggcattaatgattctgtaa	11	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:90041539T>G	ENST00000405460.2	+	52	10997	c.10901T>G	c.(10900-10902)aTt>aGt	p.I3634S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3634					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGCAGAGATTGGCATTAAT	0.368																																																	0													111	101	104					5																	90041539		1865	4104	5969	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10901T>G	5.37:g.90041539T>G	ENSP00000384582:p.Ile3634Ser		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I3634S	ENST00000405460.2	37	c.10901	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.551966|4.551966	0.86127|0.86127	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.30714|.	1.52|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77123|0.77123	0.4084|0.4084	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.963|.	T|T	0.78671|0.78671	-0.2113|-0.2113	10|5	0.87932|.	D|.	0|.	.|.	15.7868|15.7868	0.78310|0.78310	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3634;3634|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	S|V	3634|1200	ENSP00000384582:I3634S|.	ENSP00000296619:I3634S|.	I|L	+|+	2|1	0|2	GPR98|GPR98	90077295|90077295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	5.933000|5.933000	0.70130|0.70130	2.140000|2.140000	0.66376|0.66376	0.460000|0.460000	0.39030|0.39030	ATT|TTG	GPR98	-	NULL		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		90041539	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90041539	T	G	90041539	3	3	131	1	0	0	0	0	1	0	0	0	6741	1493	52	5	11107	5	GPR98	5	90041539	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1941054	90041539	90873721	632	20772										
GPR98	84059	genome.wustl.edu	37	chr5	90072290	90072290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtagtgcatcaataattattCggggtgataagcgagcatca	11	6	2	1	rs534226753		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:90072290C>T	ENST00000405460.2	+	61	12520	c.12424C>T	c.(12424-12426)Cgg>Tgg	p.R4142W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4142	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4142W(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATAATTATTCGGGGTGATAA	0.418																																																	2	Substitution - Missense(2)	large_intestine(2)											104	103	104					5																	90072290		1922	4129	6051	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12424C>T	5.37:g.90072290C>T	ENSP00000384582:p.Arg4142Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4142W	ENST00000405460.2	37	c.12424	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268763	0.40095	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.28069	1.63	5.27	4.37	0.52481	.	0.316290	0.31199	N	0.008073	T	0.33644	0.0870	L	0.50333	1.59	0.18873	N	0.999989	D	0.69078	0.997	P	0.50490	0.642	T	0.21449	-1.0245	10	0.62326	D	0.03	.	7.0323	0.24975	0.4295:0.491:0.0:0.0796	.	4142	Q8WXG9	GPR98_HUMAN	W	4142	ENSP00000384582:R4142W	ENSP00000296619:R4142W	R	+	1	2	GPR98	90108046	0.000000	0.05858	0.644000	0.29465	0.157000	0.22087	0.055000	0.14229	1.287000	0.44583	0.637000	0.83480	CGG	GPR98	-	NULL		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90072290	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.052	T	T	90072290	C	T	90072290	3	4	131	1	0	0	0	0	1	0	0	0	6741	875	31	1	12666	1	GPR98	5	90072290	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	30751	90072290	90842970	633	20773										
FER	2241	genome.wustl.edu	37	chr5	108281858	108281858	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagaggctatccaaatttGaatctattcgtcattcaatt	7	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:108281858G>T	ENST00000281092.4	+	11	1648	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	FER_ENST00000536402.1_Missense_Mutation_p.L317F|FER_ENST00000438717.2_Nonsense_Mutation_p.E247*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	422					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATCCAAATTTGAATCTATTCG	0.373																																					Colon(146;1051 1799 9836 27344 47401)												0													125	131	129					5																	108281858		2202	4300	6502	SO:0001587	stop_gained	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1264G>T	5.37:g.108281858G>T	ENSP00000281092:p.Glu422*		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.E422*	ENST00000281092.4	37	c.1264	CCDS4098.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.644068|8.644068	0.98897|0.98897	.|.	.|.	ENSG00000151422|ENSG00000151422	ENST00000281092;ENST00000438717|ENST00000536402	.|T	.|0.26957	.|1.7	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.042749|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51415	.|0.1673	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51474	.|-0.8701	.|5	0.40728|0.62326	T|D	0.16|0.03	-20.9934|-20.9934	19.6346|19.6346	0.95724|0.95724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	422;247|317	.|ENSP00000442627:L317F	ENSP00000281092:E422X|ENSP00000442627:L317F	E|L	+|+	1|3	0|2	FER|FER	108309757|108309757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.726000|8.726000	0.91474|0.91474	2.720000|2.720000	0.93068|0.93068	0.491000|0.491000	0.48974|0.48974	GAA|TTG	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	G	NM_005246		108281858	1	no_errors	ENST00000281092	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	108281858	G	T	108281858	4	4	131	1	0	0	0	0	0	1	0	0	5831	1291	45	3	1298	3	FER	5	108281858	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	18209568	108281858	72633402	634	20774										
MAN2A1	4124	genome.wustl.edu	37	chr5	109110644	109110644	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctttttgattatatgaattCtcagtccaagtttaaagtta	6	5	1	2	rs142084782		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:109110644C>A	ENST00000261483.4	+	8	2404	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	451					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATATGAATTCTCAGTCCAAG	0.323																																																	0													48	51	50					5																	109110644		2201	4299	6500	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1352C>A	5.37:g.109110644C>A	ENSP00000261483:p.Ser451Tyr		Q16767	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S451Y	ENST00000261483.4	37	c.1352	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105986	0.77096	.	.	ENSG00000112893	ENST00000261483	T	0.25579	1.79	5.95	5.08	0.68730	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.363638	0.30068	N	0.010497	T	0.60599	0.2281	M	0.92923	3.36	0.53688	D	0.999971	D	0.71674	0.998	D	0.72075	0.976	T	0.72207	-0.4360	10	0.87932	D	0	-20.0015	15.3486	0.74363	0.0:0.933:0.0:0.067	.	451	Q16706	MA2A1_HUMAN	Y	451	ENSP00000261483:S451Y	ENSP00000261483:S451Y	S	+	2	0	MAN2A1	109138543	1.000000	0.71417	0.964000	0.40570	0.756000	0.42949	7.452000	0.80683	1.519000	0.48950	0.563000	0.77884	TCT	MAN2A1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl		0.323	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	C			109110644	1	no_errors	ENST00000261483	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109110644	C	A	109110644	3	1	131	1	0	0	0	0	1	0	0	0	9237	913	32	3	1382	3	MAN2A1	5	109110644	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	828786	109110644	71804616	635	20775										
CAMK4	814	genome.wustl.edu	37	chr5	110818492	110818492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattatttcaggtcagaaaaTtaattgttttggatccaaag	7	4	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:110818492T>G	ENST00000282356.4	+	10	1236	c.838T>G	c.(838-840)Tta>Gta	p.L280V	CAMK4_ENST00000512453.1_Missense_Mutation_p.L280V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGTCAGAAAATTAATTGTTTT	0.413																																																	0													77	80	79					5																	110818492		2202	4300	6502	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.838T>G	5.37:g.110818492T>G	ENSP00000282356:p.Leu280Val		D3DSZ7	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.L280V	ENST00000282356.4	37	c.838	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788372	0.70337	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.55234	0.53;0.53	5.23	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.73024	0.3534	M	0.89785	3.06	0.44834	D	0.997841	D	0.76494	0.999	D	0.85130	0.997	T	0.74500	-0.3645	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.3486:0.0:0.6514	.	280	Q16566	KCC4_HUMAN	V	280	ENSP00000422634:L280V;ENSP00000282356:L280V	ENSP00000282356:L280V	L	+	1	2	CAMK4	110846391	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.426000	0.34870	0.305000	0.22832	0.460000	0.39030	TTA	CAMK4	-	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		0.413	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	T	NM_001744		110818492	1	no_errors	ENST00000282356	ensembl	human	known	70_37	missense	SNP	0.999	G	G	110818492	T	G	110818492	3	3	131	1	0	0	0	0	1	0	0	0	2610	1490	52	5	876	5	CAMK4	5	110818492	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1707848	110818492	70096768	636	20776										
APC	324	genome.wustl.edu	37	chr5	112177389	112177389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctcagttctcttagtattgActctgaagatgacctgttgc	8	9	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112177389A>G	ENST00000457016.1	+	16	6478	c.6098A>G	c.(6097-6099)gAc>gGc	p.D2033G	APC_ENST00000257430.4_Missense_Mutation_p.D2033G|APC_ENST00000508376.2_Missense_Mutation_p.D2033G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2033	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTAGTATTGACTCTGAAGAT	0.393		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											91	92	92					5																	112177389		2202	4298	6500	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6098A>G	5.37:g.112177389A>G	ENSP00000413133:p.Asp2033Gly		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D2033G	ENST00000457016.1	37	c.6098	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246599	0.59103	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91295	-2.82;-2.82;-2.82	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	L	0.40543	1.245	0.58432	D	0.999995	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.989	D	0.92153	0.5730	9	.	.	.	-21.0732	15.7465	0.77949	1.0:0.0:0.0:0.0	.	2035;2033	Q4LE70;P25054	.;APC_HUMAN	G	2033	ENSP00000413133:D2033G;ENSP00000257430:D2033G;ENSP00000427089:D2033G	.	D	+	2	0	APC	112205288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	2.103000	0.63969	0.528000	0.53228	GAC	APC	-	NULL		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	A	NM_000038		112177389	1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112177389	A	G	112177389	3	3	131	1	0	0	0	0	1	0	0	0	763	275	10	5	6156	5	APC	5	112177389	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1358897	112177389	68737871	637	20777										
YTHDC2	64848	genome.wustl.edu	37	chr5	112889509	112889509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatatgcaaacatccgatcaAaagaaagtattaaaaaaccc	4	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112889509A>C	ENST00000161863.4	+	15	2223	c.2010A>C	c.(2008-2010)caA>caC	p.Q670H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.Q670H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CATCCGATCAAAAGAAAGTAT	0.299																																																	0													65	66	66					5																	112889509		2200	4299	6499	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2010A>C	5.37:g.112889509A>C	ENSP00000161863:p.Gln670His		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q670H	ENST00000161863.4	37	c.2010	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356595	0.61293	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.76709	0.79;-1.04	5.51	1.74	0.24563	Helicase, C-terminal (3);	0.058686	0.64402	D	0.000001	D	0.88355	0.6414	H	0.98256	4.185	0.39140	D	0.962016	P	0.41947	0.766	P	0.50970	0.655	D	0.88570	0.3129	10	0.87932	D	0	.	8.7371	0.34534	0.5105:0.0:0.4895:0.0	.	670	Q9H6S0	YTDC2_HUMAN	H	670;670;580	ENSP00000161863:Q670H;ENSP00000423101:Q670H	ENSP00000161863:Q670H	Q	+	3	2	YTHDC2	112917408	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.970000	0.49240	0.377000	0.24735	0.528000	0.53228	CAA	YTHDC2	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.299	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	A	NM_022828		112889509	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112889509	A	C	112889509	3	2	131	1	0	0	0	0	1	0	0	0	17528	11	1	5	2068	5	YTHDC2	5	112889509	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	712120	112889509	68025751	638	20778										
YTHDC2	64848	genome.wustl.edu	37	chr5	112927792	112927792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtggagtggatacgaaaaGaaagccttccctttcaattt	10	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112927792G>A	ENST00000161863.4	+	28	4342	c.4129G>A	c.(4129-4131)Gaa>Aaa	p.E1377K		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1377	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GATACGAAAAGAAAGCCTTCC	0.443																																																	0													95	91	92					5																	112927792		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4129G>A	5.37:g.112927792G>A	ENSP00000161863:p.Glu1377Lys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1377K	ENST00000161863.4	37	c.4129	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689643	0.68271	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.28255	1.62	5.83	5.83	0.93111	YTH domain (2);	0.105878	0.64402	D	0.000008	T	0.32763	0.0840	N	0.05031	-0.125	0.80722	D	1	D	0.56968	0.978	D	0.63033	0.91	T	0.23013	-1.0200	10	0.15066	T	0.55	.	20.1025	0.97880	0.0:0.0:1.0:0.0	.	1377	Q9H6S0	YTDC2_HUMAN	K	1377;1287	ENSP00000161863:E1377K	ENSP00000161863:E1377K	E	+	1	0	YTHDC2	112955691	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.338000	0.96553	2.749000	0.94314	0.650000	0.86243	GAA	YTHDC2	-	pfam_YTH_domain,pfscan_YTH_domain		0.443	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112927792	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112927792	G	A	112927792	3	1	131	1	0	0	0	0	1	0	0	0	17528	943	33	1	4239	1	YTHDC2	5	112927792	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	38283	112927792	67987468	639	20779										
KCNN2	3781	genome.wustl.edu	37	chr5	113740463	113740463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacacgttttgttatgaagaCtttaatgactatatgcccag	7	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:113740463C>A	ENST00000512097.3	+	4	1929	c.911C>A	c.(910-912)aCt>aAt	p.T304N	KCNN2_ENST00000264773.3_Missense_Mutation_p.T304N|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	304					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GTTATGAAGACTTTAATGACT	0.373																																																	0													139	137	138					5																	113740463		2202	4300	6502	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.911C>A	5.37:g.113740463C>A	ENSP00000427120:p.Thr304Asn		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.T304N	ENST00000512097.3	37	c.911	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498021	0.85069	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98996	-5.31;-5.31	5.42	5.42	0.78866	.	0.094329	0.64402	D	0.000001	D	0.99390	0.9785	M	0.89840	3.065	0.80722	D	1	D	0.57899	0.981	D	0.65773	0.938	D	0.98874	1.0767	10	0.87932	D	0	-3.5856	18.8255	0.92117	0.0:1.0:0.0:0.0	.	304	Q9H2S1	KCNN2_HUMAN	N	304	ENSP00000427120:T304N;ENSP00000264773:T304N	ENSP00000264773:T304N	T	+	2	0	KCNN2	113768362	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.723000	0.84788	2.545000	0.85829	0.491000	0.48974	ACT	KCNN2	-	NULL		0.373	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	C	NM_021614		113740463	1	no_errors	ENST00000264773	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113740463	C	A	113740463	3	1	131	1	0	0	0	0	1	0	0	0	8099	565	20	4	921	4	KCNN2	5	113740463	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	812671	113740463	67174797	640	20780										
AQPEP	206338	genome.wustl.edu	37	chr5	115350168	115350168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttggttgggccttgaagaCtgccttcagctgtcaaaaga	12	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:115350168C>T	ENST00000357872.4	+	16	2518	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		798						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GCCTTGAAGACTGCCTTCAGC	0.353																																																	0													122	116	118					5																	115350168		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2394C>T	5.37:g.115350168C>T			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D798	ENST00000357872.4	37	c.2394	CCDS4124.1	5																																																																																			AQPEP	-	NULL		0.353	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115350168	1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	1.000	T	T	115350168	C	T	115350168	2	4	131	1	0	0	0	0	0	0	0	1	834	564	20	4		4	AQPEP	5	115350168	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1609705	115350168	65565092	641	20781										
DMXL1	1657	genome.wustl.edu	37	chr5	118433713	118433713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acattgtaatactgggaagcGattttgaaagattacagata	9	4	0	3	rs147324580		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:118433713G>A	ENST00000311085.8	+	2	207	c.127G>A	c.(127-129)Gat>Aat	p.D43N	DMXL1_ENST00000539542.1_Missense_Mutation_p.D43N	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	43										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTGGGAAGCGATTTTGAAAG	0.328																																																	0								G	ASN/ASP	0,4404		0,0,2202	115	114	114		127	3.9	1	5	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMXL1	NM_005509.4	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	43/3028	118433713	1,13003	2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.127G>A	5.37:g.118433713G>A	ENSP00000309690:p.Asp43Asn			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D43N	ENST00000311085.8	37	c.127	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086910	0.36855	0.0	1.16E-4	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.13307	2.6;2.96;2.6	5.98	3.86	0.44501	WD40 repeat-like-containing domain (1);	0.149813	0.56097	N	0.000025	T	0.11367	0.0277	L	0.35793	1.09	0.40762	D	0.983013	B;B	0.23316	0.083;0.019	B;B	0.19946	0.027;0.012	T	0.11690	-1.0577	10	0.22706	T	0.39	-18.2823	12.8762	0.57991	0.1591:0.0:0.8409:0.0	.	43;43	F5H269;Q9Y485	.;DMXL1_HUMAN	N	43	ENSP00000427692:D43N;ENSP00000309690:D43N;ENSP00000439479:D43N	ENSP00000309690:D43N	D	+	1	0	DMXL1	118461612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.049000	0.49869	1.513000	0.48852	0.585000	0.79938	GAT	DMXL1	-	superfamily_WD40_repeat_dom		0.328	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	G	NM_005509		118433713	1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118433713	G	A	118433713	3	1	131	1	0	0	0	0	1	0	0	0	4604	1058	37	1	133	1	DMXL1	5	118433713	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3083545	118433713	62481547	642	20782										
HSD17B4	3295	genome.wustl.edu	37	chr5	118814621	118814621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtcttctgggccttgcaaAttctcttgcaattgaaggca	11	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:118814621A>C	ENST00000256216.6	+	8	660	c.527A>C	c.(526-528)aAt>aCt	p.N176T	HSD17B4_ENST00000510025.1_Missense_Mutation_p.N152T|HSD17B4_ENST00000414835.2_Missense_Mutation_p.N36T|HSD17B4_ENST00000504811.1_Missense_Mutation_p.N201T|HSD17B4_ENST00000515320.1_Missense_Mutation_p.N158T|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.N39T	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	176	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGCCTTGCAAATTCTCTTGCA	0.428																																					Colon(35;490 801 34689 41394 43344)												0													146	141	143					5																	118814621		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.527A>C	5.37:g.118814621A>C	ENSP00000256216:p.Asn176Thr		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.N176T	ENST00000256216.6	37	c.527	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493877	0.84962	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.22	5.22	0.72569	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	L	0.38175	1.15	0.80722	D	1	B;P;P;P	0.41624	0.159;0.757;0.528;0.757	P;P;P;P	0.59948	0.546;0.549;0.549;0.866	D	0.90682	0.4606	10	0.66056	D	0.02	-20.1501	15.0655	0.71992	1.0:0.0:0.0:0.0	.	201;158;152;176	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	T	176;158;152;201;36;39	ENSP00000256216:N176T;ENSP00000424613:N158T;ENSP00000424940:N152T;ENSP00000420914:N201T;ENSP00000411960:N36T;ENSP00000425993:N39T	ENSP00000256216:N176T	N	+	2	0	HSD17B4	118842520	1.000000	0.71417	0.754000	0.31244	0.735000	0.41995	9.157000	0.94714	2.091000	0.63221	0.533000	0.62120	AAT	HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR		0.428	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	A	NM_000414		118814621	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118814621	A	C	118814621	3	2	131	1	0	0	0	0	1	0	0	0	7406	101	4	5	557	5	HSD17B4	5	118814621	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	380908	118814621	62100639	643	20783										
SNCAIP	9627	genome.wustl.edu	37	chr5	121776323	121776323	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caactgtctttgtgtttataGgaaaagattcttctgtggct	9	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:121776323G>T	ENST00000261368.8	+	7	1558		c.e7-1		SNCAIP_ENST00000414317.2_Splice_Site|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Splice_Site|SNCAIP_ENST00000542191.1_Splice_Site|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_Splice_Site|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Splice_Site|SNCAIP_ENST00000379536.2_Splice_Site|SNCAIP_ENST00000503116.2_Splice_Site|SNCAIP_ENST00000379533.2_Splice_Site	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein						cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGTGTTTATAGGAAAAGATTC	0.398																																																	0													128	127	127					5																	121776323		2203	4300	6503	SO:0001630	splice_region_variant	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1297-1G>T	5.37:g.121776323G>T			D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Splice_Site	SNP	-	e7-1	ENST00000261368.8	37	c.1438-1	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190065	0.78789	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNCAIP	121804222	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	9.260000	0.95568	2.717000	0.92951	0.650000	0.86243	.	SNCAIP	-	-		0.398	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	G		Intron	121776323	1	no_errors	ENST00000379533	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	121776323	G	T	121776323	5	4	131	1	0	0	0	0	0	0	1	0	14871	1014	35	4	1318	4	SNCAIP	5	121776323	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2961702	121776323	59138937	644	20784										
ZNF608	57507	genome.wustl.edu	37	chr5	123984032	123984032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgccgagcaactgtctaacGcagccgtcatgttggagatt	11	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:123984032G>A	ENST00000306315.5	-	4	2480	c.2045C>T	c.(2044-2046)gCg>gTg	p.A682V	ZNF608_ENST00000504926.1_Missense_Mutation_p.A255V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	682							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACTGTCTAACGCAGCCGTCAT	0.438																																																	0													112	115	114					5																	123984032		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2045C>T	5.37:g.123984032G>A	ENSP00000307746:p.Ala682Val		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.A682V	ENST00000306315.5	37	c.2045	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	0.501	-0.870941	0.02570	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.41400	1.0;1.0	5.78	5.78	0.91487	.	0.400498	0.30293	N	0.009941	T	0.30665	0.0772	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08848	-1.0702	10	0.27082	T	0.32	-2.8953	20.0115	0.97452	0.0:0.0:1.0:0.0	.	682	Q9ULD9	ZN608_HUMAN	V	255;682;682;682	ENSP00000427657:A255V;ENSP00000307746:A682V	ENSP00000307746:A682V	A	-	2	0	ZNF608	124011931	0.984000	0.35163	0.013000	0.15412	0.261000	0.26267	3.856000	0.55964	2.727000	0.93392	0.551000	0.68910	GCG	ZNF608	-	NULL		0.438	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	G	XM_114432		123984032	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	0.012	A	A	123984032	G	A	123984032	3	1	131	1	0	0	0	0	1	0	0	0	18064	1087	38	2	2517	2	ZNF608	5	123984032	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2207709	123984032	56931228	645	20785										
TGFBI	7045	genome.wustl.edu	37	chr5	135390546	135390546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actgagagtttttgtttatcGtaatgtaagttctgggtcct	10	5	1	1	rs376761086	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:135390546G>A	ENST00000442011.2	+	10	1567	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	TGFBI_ENST00000305126.8_Missense_Mutation_p.R469H	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	469	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGTTTATCGTAATGTAAGT	0.428													G|||	9	0.00179712	0	0	5008	,	,		18024	0		0	False		,,,				2504	0.0092																0								G	HIS/ARG	0,3698		0,0,1849	167	166	166		1406	5.8	1	5		166	2,8164		0,2,4081	no	missense	TGFBI	NM_000358.2	29	0,2,5930	AA,AG,GG		0.0245,0.0,0.0169	probably-damaging	469/684	135390546	2,11862	1849	4083	5932	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1406G>A	5.37:g.135390546G>A	ENSP00000416330:p.Arg469His		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R469H	ENST00000442011.2	37	c.1406	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033104	0.93575	0.0	2.45E-4	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.72725	-0.68;-0.68	5.83	5.83	0.93111	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.85562	0.1228	10	0.48119	T	0.1	-0.4892	20.1184	0.97949	0.0:0.0:1.0:0.0	.	202;469	B9ZVW9;Q15582	.;BGH3_HUMAN	H	469;202;469	ENSP00000416330:R469H;ENSP00000306306:R469H	ENSP00000306306:R469H	R	+	2	0	TGFBI	135418445	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.827000	0.99397	2.769000	0.95229	0.655000	0.94253	CGT	TGFBI	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.428	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	G			135390546	1	no_errors	ENST00000305126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135390546	G	A	135390546	3	1	131	1	0	0	0	0	1	0	0	0	15850	1145	40	2	1444	2	TGFBI	5	135390546	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	11406514	135390546	45524714	646	20786										
PURA	5813	genome.wustl.edu	37	chr5	139494072	139494072	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacaagagccgccttactctCtccatgtcagtggccgtgga	10	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:139494072C>T	ENST00000331327.3	+	1	365	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	102					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTACTCTCTCCATGTCAG	0.662																																																	0													18	18	18					5																	139494072		2200	4300	6500	SO:0001819	synonymous_variant	5813			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.306C>T	5.37:g.139494072C>T				Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.L102	ENST00000331327.3	37	c.306	CCDS4220.1	5																																																																																			PURA	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd		0.662	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURA	HGNC	protein_coding	OTTHUMT00000251341.3	C	NM_005859		139494072	1	no_errors	ENST00000331327	ensembl	human	known	70_37	silent	SNP	1.000	T	T	139494072	C	T	139494072	2	4	131	1	0	0	0	0	0	0	0	1	12857	900	32	1		1	PURA	5	139494072	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4103526	139494072	41421188	647	20787										
PFDN1	5201	genome.wustl.edu	37	chr5	139680016	139680016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttacattcttcctacacctTcatacatgttagtctcatct	2	13	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:139680016T>C	ENST00000261813.4	-	2	232	c.185A>G	c.(184-186)gAa>gGa	p.E62G	PFDN1_ENST00000524074.1_Missense_Mutation_p.E62G|PFDN1_ENST00000514611.1_5'UTR|PFDN1_ENST00000510217.1_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	62					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTACACCTTCATACATGTT	0.363																																																	0													238	215	223					5																	139680016		2203	4300	6503	SO:0001583	missense	5201			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"prefoldin 1"			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.185A>G	5.37:g.139680016T>C	ENSP00000261813:p.Glu62Gly		B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.E62G	ENST00000261813.4	37	c.185	CCDS4222.1	5	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762508	0.89932	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.48522	0.81;0.81	5.95	5.95	0.96441	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	M	0.89095	3.005	0.80722	D	1	D	0.56968	0.978	P	0.60286	0.872	T	0.77416	-0.2596	10	0.66056	D	0.02	-16.9506	16.4323	0.83853	0.0:0.0:0.0:1.0	.	62	O60925	PFD1_HUMAN	G	62	ENSP00000261813:E62G;ENSP00000428707:E62G	ENSP00000261813:E62G	E	-	2	0	PFDN1	139660200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.465000	0.80898	2.281000	0.76405	0.528000	0.53228	GAA	PFDN1	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.363	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN1	HGNC	protein_coding	OTTHUMT00000251354.3	T	NM_002622		139680016	-1	no_errors	ENST00000261813	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139680016	T	C	139680016	3	2	131	1	0	0	0	0	1	0	0	0	11779	1783	62	5	195	5	PFDN1	5	139680016	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	185944	139680016	41235244	648	20788										
ANKHD1	54882	genome.wustl.edu	37	chr5	139892498	139892498	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catgagatacatagcaacaaTtacagataaggtaagtttaa	7	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:139892498T>G	ENST00000360839.2	+	23	4344	c.4190T>G	c.(4189-4191)aTt>aGt	p.I1397S	ANKHD1_ENST00000297183.6_Missense_Mutation_p.I1397S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.I1397S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1397						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGCAACAATTACAGATAAG	0.318																																																	0													110	114	113					5																	139892498		2202	4300	6502	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4190T>G	5.37:g.139892498T>G	ENSP00000354085:p.Ile1397Ser		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.I1397S	ENST00000360839.2	37	c.4190	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.632635|3.632635	0.67015|0.67015	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000431508;ENST00000532219|ENST00000246149	T;T;T;T;T;T|.	0.69306|.	-0.36;-0.39;-0.26;-0.29;1.42;-0.39|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.052621|.	0.64402|.	D|.	0.000001|.	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	P;P;P;B;D;P|.	0.60575|.	0.951;0.791;0.947;0.129;0.988;0.917|.	P;B;P;B;P;B|.	0.55161|.	0.593;0.392;0.77;0.027;0.676;0.446|.	T|T	0.73662|0.73662	-0.3912|-0.3912	10|5	0.66056|.	D|.	0.02|.	.|.	15.4127|15.4127	0.74941|0.74941	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1397;608;1397;1416;1397;1397|.	E9PF56;E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	S|V	1397;1430;1397;1397;931;608;1416;550;53;1397|623	ENSP00000354085:I1397S;ENSP00000297183:I1397S;ENSP00000394489:I1416S;ENSP00000405602:I550S;ENSP00000393204:I53S;ENSP00000432016:I1397S|.	ENSP00000432016:I1397S|.	I|L	+|+	2|1	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139872682|139872682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.997000|7.997000	0.88414|0.88414	2.106000|2.106000	0.64143|0.64143	0.456000|0.456000	0.33151|0.33151	ATT|TTA	ANKHD1	-	NULL		0.318	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	T	NM_017747		139892498	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139892498	T	G	139892498	3	3	131	1	0	0	0	0	1	0	0	0	628	1493	52	5	4386	5	ANKHD1	5	139892498	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	212482	139892498	41022762	649	20789										
CD14	929	genome.wustl.edu	37	chr5	140012163	140012163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtcctgtggcttccagagGcagcggaggcatggtgccgg	17	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140012163G>A	ENST00000302014.6	-	2	1035	c.406C>T	c.(406-408)Cct>Tct	p.P136S	CD14_ENST00000401743.2_Missense_Mutation_p.P136S	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	136					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCCAGAGGCAGCGGAGGC	0.617																																																	0													58	54	56					5																	140012163		2203	4300	6503	SO:0001583	missense	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.406C>T	5.37:g.140012163G>A	ENSP00000304236:p.Pro136Ser		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.P136S	ENST00000302014.6	37	c.406	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	G	7.699	0.692787	0.15039	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	D;D;T	0.90261	-2.64;-2.64;1.6	5.96	4.08	0.47627	.	1.204420	0.06077	N	0.661245	D	0.87680	0.6238	L	0.50333	1.59	0.09310	N	1	B	0.23442	0.085	B	0.20577	0.03	T	0.70494	-0.4856	10	0.10377	T	0.69	0.315	12.5397	0.56163	0.0:0.3212:0.6788:0.0	.	136	P08571	CD14_HUMAN	S	136	ENSP00000304236:P136S;ENSP00000385519:P136S;ENSP00000426543:P136S	ENSP00000304236:P136S	P	-	1	0	CD14	139992347	0.001000	0.12720	0.708000	0.30435	0.156000	0.22039	0.558000	0.23469	1.517000	0.48917	0.655000	0.94253	CCT	CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	G	NM_000591		140012163	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	missense	SNP	0.098	A	A	140012163	G	A	140012163	3	1	131	1	0	0	0	0	1	0	0	0	2969	1203	42	4	725	4	CD14	5	140012163	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	119665	140012163	40903097	650	20790										
HARS	3035	genome.wustl.edu	37	chr5	140062703	140062703	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acctttagttcaaatacaggTgtatcaatgacttctgcacc	6	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140062703T>G	ENST00000504156.1	-	3	1001	c.282A>C	c.(280-282)acA>acC	p.T94T	HARS_ENST00000448240.1_5'UTR|HARS_ENST00000457527.2_Silent_p.T94T|HARS_ENST00000504366.1_Silent_p.T25T|HARS_ENST00000431330.2_Intron|HARS_ENST00000438307.2_Intron|HARS_ENST00000415192.2_Silent_p.T94T|HARS_ENST00000307633.3_Intron	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	94					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAAATACAGGTGTATCAATGA	0.463																																																	0													160	144	149					5																	140062703		2203	4300	6503	SO:0001819	synonymous_variant	3035			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.282A>C	5.37:g.140062703T>G			B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase	p.T94	ENST00000504156.1	37	c.282	CCDS4237.1	5																																																																																			HARS	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase		0.463	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	T	NM_002109		140062703	-1	no_errors	ENST00000504156	ensembl	human	known	70_37	silent	SNP	0.798	G	G	140062703	T	G	140062703	2	3	131	1	0	0	0	0	0	0	0	1	6979	1683	59	5		5	HARS	5	140062703	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	50540	140062703	40852557	651	20791										
PCDHA1	56147	genome.wustl.edu	37	chr5	140166648	140166648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttagagactacagcaaatgGaacattagtgaccacattaa	8	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140166648G>T	ENST00000504120.2	+	1	773	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G258V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G258V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	258	Cadherin 3. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAAATGGAACATTAGTG	0.448																																																	0													133	126	128					5																	140166648		2203	4300	6503	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.773G>T	5.37:g.140166648G>T	ENSP00000420840:p.Gly258Val		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G258V	ENST00000504120.2	37	c.773	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	15.41	2.826166	0.50739	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.70399	-0.48;-0.48;-0.48	4.19	2.32	0.28847	Cadherin (4);Cadherin-like (1);	0.000000	0.42172	U	0.000747	D	0.87277	0.6137	H	0.96720	3.87	0.38000	D	0.934184	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.81914	0.995;0.986;0.96	D	0.88167	0.2861	10	0.87932	D	0	.	9.2063	0.37291	0.0823:0.1467:0.771:0.0	.	258;258;258	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	258	ENSP00000420840:G258V;ENSP00000378129:G258V;ENSP00000367373:G258V	ENSP00000367373:G258V	G	+	2	0	PCDHA1	140146832	1.000000	0.71417	0.029000	0.17559	0.971000	0.66376	2.878000	0.48515	0.326000	0.23384	0.650000	0.86243	GGA	PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.448	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	G	NM_018900		140166648	1	no_errors	ENST00000504120	ensembl	human	known	70_37	missense	SNP	0.585	T	T	140166648	G	T	140166648	3	4	131	1	0	0	0	0	1	0	0	0	11543	1174	41	3	775	3	PCDHA1	5	140166648	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	103945	140166648	40748612	652	20792										
PCDHA7	56141	genome.wustl.edu	37	chr5	140214535	140214535	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaaccagcaaccagcaggtAaaacctcttggacttgtatt	7	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140214535A>C	ENST00000525929.1	+	1	567	c.567A>C	c.(565-567)gtA>gtC	p.V189V	PCDHA7_ENST00000378125.3_Silent_p.V189V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	189	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCAGGTAAAACCTCTTG	0.517																																					NSCLC(160;258 2013 5070 22440 28951)												0													7	8	7					5																	140214535		1888	3747	5635	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.567A>C	5.37:g.140214535A>C			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V189	ENST00000525929.1	37	c.567	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	A	NM_018910		140214535	1	no_errors	ENST00000525929	ensembl	human	known	70_37	silent	SNP	0.000	C	C	140214535	A	C	140214535	2	2	131	1	0	0	0	0	0	0	0	1	11553	349	13	5		5	PCDHA7	5	140214535	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	47887	140214535	40700725	653	20793										
PCDHA11	56138	genome.wustl.edu	37	chr5	140249718	140249718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaaatcttggacaccaacGataactctcctgaagtcgcc	8	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140249718G>T	ENST00000398640.2	+	1	1030	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	344	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512																																																	0													62	70	67					5																	140249718		2203	4300	6503	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1030G>T	5.37:g.140249718G>T	ENSP00000381636:p.Asp344Tyr		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D344Y	ENST00000398640.2	37	c.1030	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441432	0.63067	.	.	ENSG00000249158	ENST00000398640	T	0.54866	0.55	5.73	5.73	0.89815	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85839	0.5790	H	0.99454	4.575	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91788	0.5441	9	0.87932	D	0	.	19.4907	0.95049	0.0:0.0:1.0:0.0	.	344;344	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Y	344	ENSP00000381636:D344Y	ENSP00000381636:D344Y	D	+	1	0	PCDHA11	140229902	1.000000	0.71417	0.557000	0.28306	0.618000	0.37518	9.548000	0.98103	2.708000	0.92522	0.563000	0.77884	GAT	PCDHA11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249718	1	no_errors	ENST00000398640	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140249718	G	T	140249718	3	4	131	1	0	0	0	0	1	0	0	0	11545	1058	37	3	1032	3	PCDHA11	5	140249718	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	35183	140249718	40665542	654	20794										
PCDHA13	56136	genome.wustl.edu	37	chr5	140262328	140262328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccactagatggcgcatccGatgcagatattggagtaaac	10	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140262328G>A	ENST00000289272.2	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D159N|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGCATCCGATGCAGATAT	0.443																																					Melanoma(147;1739 1852 5500 27947 37288)												0													93	91	91					5																	140262328		2203	4300	6503	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.475G>A	5.37:g.140262328G>A	ENSP00000289272:p.Asp159Asn		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D159N	ENST00000289272.2	37	c.475	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864483	0.91511	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61627	0.09;0.09	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87896	0.6293	H	0.99740	4.74	0.45025	D	0.998046	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93373	0.6737	9	0.87932	D	0	.	18.9549	0.92654	0.0:0.0:1.0:0.0	.	159;159;159	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	N	159	ENSP00000386821:D159N;ENSP00000289272:D159N	ENSP00000289272:D159N	D	+	1	0	PCDHA13	140242512	1.000000	0.71417	0.950000	0.38849	0.965000	0.64279	7.930000	0.87610	2.573000	0.86826	0.491000	0.48974	GAT	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.443	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140262328	1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140262328	G	A	140262328	3	1	131	1	0	0	0	0	1	0	0	0	11547	1058	37	1	477	1	PCDHA13	5	140262328	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	12610	140262328	40652932	655	20795										
PCDHB6	56130	genome.wustl.edu	37	chr5	140530913	140530913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcctcatcccagaaaacttaCcagagatcacagtggcagtt	8	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140530913C>G	ENST00000231136.1	+	1	1075	c.1075C>G	c.(1075-1077)Cca>Gca	p.P359A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P223A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	359	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAAACTTACCAGAGATCAC	0.443																																																	0													115	108	110					5																	140530913		2203	4300	6503	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1075C>G	5.37:g.140530913C>G	ENSP00000231136:p.Pro359Ala		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P359A	ENST00000231136.1	37	c.1075	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964477	0.18583	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.54071	0.59;0.59	4.86	4.86	0.63082	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60170	0.2248	M	0.66297	2.02	0.21386	N	0.9997	B	0.22541	0.071	B	0.33690	0.168	T	0.56986	-0.7888	9	0.54805	T	0.06	.	18.3605	0.90372	0.0:1.0:0.0:0.0	.	359	Q9Y5E3	PCDB6_HUMAN	A	223;359;144	ENSP00000438466:P223A;ENSP00000231136:P359A	ENSP00000231136:P359A	P	+	1	0	PCDHB6	140511097	0.000000	0.05858	0.140000	0.22221	0.072000	0.16883	-1.463000	0.02361	2.401000	0.81631	0.655000	0.94253	CCA	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.443	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140530913	1	no_errors	ENST00000231136	ensembl	human	known	70_37	missense	SNP	0.863	G	G	140530913	C	G	140530913	3	3	131	1	0	0	0	0	1	0	0	0	11570	507	18	4	1077	4	PCDHB6	5	140530913	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	268585	140530913	40384347	656	20796										
PCDHB7	56129	genome.wustl.edu	37	chr5	140554024	140554024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgcgtgggcgccacagaccgCggctcccccgcgctgagcag	15	18	0	2	rs13185413		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140554024C>T	ENST00000231137.3	+	1	1782	c.1608C>T	c.(1606-1608)cgC>cgT	p.R536R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACCGCGGCTCCCCCG	0.682																																																	0													48	54	52					5																	140554024		2203	4298	6501	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1608C>T	5.37:g.140554024C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R536	ENST00000231137.3	37	c.1608	CCDS4249.1	5																																																																																			PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140554024	1	no_errors	ENST00000231137	ensembl	human	known	70_37	silent	SNP	0.346	T	T	140554024	C	T	140554024	2	4	131	1	0	0	0	0	0	0	0	1	11571	755	27	2		2	PCDHB7	5	140554024	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	23111	140554024	40361236	657	20797										
PCDHGA1	56114	genome.wustl.edu	37	chr5	140711803	140711803	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctggggtcctgtatgcgctgCgatccttcgactatgagcag	13	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140711803C>T	ENST00000517417.1	+	1	1552	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.R518*	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGCGCTGCGATCCTTCGA	0.557																																																	0													159	169	166					5																	140711803		2203	4300	6503	SO:0001587	stop_gained	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1552C>T	5.37:g.140711803C>T	ENSP00000431083:p.Arg518*		Q2M273|Q9Y5D6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R518*	ENST00000517417.1	37	c.1552	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488978	0.26686	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	.	.	.	3.82	-1.68	0.08212	.	0.780131	0.10844	N	0.627918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5401	0.04723	0.3436:0.3977:0.1128:0.1459	.	.	.	.	X	518	.	ENSP00000367345:R518X	R	+	1	2	PCDHGA1	140691987	0.000000	0.05858	0.009000	0.14445	0.119000	0.20118	-0.342000	0.07801	-0.238000	0.09724	-0.319000	0.08680	CGA	PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.557	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	C	NM_018912		140711803	1	no_errors	ENST00000517417	ensembl	human	known	70_37	nonsense	SNP	0.216	T	T	140711803	C	T	140711803	4	4	131	1	0	0	0	0	0	1	0	0	11574	760	27	2	1554	2	PCDHGA1	5	140711803	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	157779	140711803	40203457	658	20798										
PCDHGA6	56109	genome.wustl.edu	37	chr5	140756057	140756057	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttacttgaaacgaaaggaGaacccaggcaacttcaggtg	10	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140756057G>T	ENST00000517434.1	+	1	2407	c.2407G>T	c.(2407-2409)Gaa>Taa	p.E803*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	803					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAAGGAGAACCCAGGCA	0.488																																																	0													61	64	63					5																	140756057		2146	4264	6410	SO:0001587	stop_gained	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2407G>T	5.37:g.140756057G>T	ENSP00000429601:p.Glu803*		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E803*	ENST00000517434.1	37	c.2407	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	29.3	4.997002	0.93167	.	.	ENSG00000253731	ENST00000517434	.	.	.	3.03	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.7461	0.62876	0.0:0.0:1.0:0.0	.	.	.	.	X	803	.	ENSP00000429601:E803X	E	+	1	0	PCDHGA6	140736241	0.016000	0.18221	0.005000	0.12908	0.041000	0.13682	1.890000	0.39728	1.507000	0.48752	0.305000	0.20034	GAA	PCDHGA6	-	NULL		0.488	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	G	NM_018919		140756057	1	no_errors	ENST00000517434	ensembl	human	known	70_37	nonsense	SNP	0.050	T	T	140756057	G	T	140756057	4	4	131	1	0	0	0	0	0	1	0	0	11582	943	33	3	2409	3	PCDHGA6	5	140756057	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	44254	140756057	40159203	659	20799										
PCDHGA12	26025	genome.wustl.edu	37	chr5	140810713	140810713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaagggacattaacgacaaTgcgccttactttcgtgaaag	10	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140810713T>C	ENST00000252085.3	+	1	529	c.387T>C	c.(385-387)aaT>aaC	p.N129N	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACGACAATGCGCCTTACT	0.418																																																	0													80	93	89					5																	140810713		2203	4300	6503	SO:0001819	synonymous_variant	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.387T>C	5.37:g.140810713T>C			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N129	ENST00000252085.3	37	c.387	CCDS4260.1	5																																																																																			PCDHGA12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	T	NM_003735		140810713	1	no_errors	ENST00000252085	ensembl	human	known	70_37	silent	SNP	0.996	C	C	140810713	T	C	140810713	2	2	131	1	0	0	0	0	0	0	0	1	11577	1461	51	5		5	PCDHGA12	5	140810713	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	54656	140810713	40104547	660	20800										
PCDHGC4	56098	genome.wustl.edu	37	chr5	140866758	140866758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaagacactcatccagttgTcccagatcttcgagaatctt	8	11	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140866758T>C	ENST00000306593.1	+	1	2018	c.2018T>C	c.(2017-2019)gTc>gCc	p.V673A	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCAGTTGTCCCAGATCTT	0.483																																																	0													115	102	107					5																	140866758		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2018T>C	5.37:g.140866758T>C	ENSP00000306918:p.Val673Ala		Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V673A	ENST00000306593.1	37	c.2018	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	T	9.119	1.008494	0.19199	.	.	ENSG00000242419	ENST00000306593	T	0.47177	0.85	5.67	4.47	0.54385	Cadherin (1);	.	.	.	.	T	0.33206	0.0855	N	0.20986	0.625	0.21740	N	0.999568	B;B	0.19200	0.003;0.034	B;B	0.15484	0.001;0.013	T	0.17379	-1.0371	9	0.21540	T	0.41	.	11.5849	0.50912	0.0:0.0713:0.0:0.9287	.	673;673	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	A	673	ENSP00000306918:V673A	ENSP00000306918:V673A	V	+	2	0	PCDHGC4	140846942	0.013000	0.17824	1.000000	0.80357	0.993000	0.82548	1.944000	0.40263	0.932000	0.37266	0.482000	0.46254	GTC	PCDHGC4	-	pfscan_Cadherin		0.483	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	T	NM_018928		140866758	1	no_errors	ENST00000306593	ensembl	human	known	70_37	missense	SNP	0.958	C	C	140866758	T	C	140866758	3	2	131	1	0	0	0	0	1	0	0	0	11594	1667	58	5	2020	5	PCDHGC4	5	140866758	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	56045	140866758	40048502	661	20801										
HDAC3	8841	genome.wustl.edu	37	chr5	141007487	141007487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcggatgctgaggttaaagCagcccaatcgatcacagccc	10	13	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:141007487C>T	ENST00000305264.3	-	10	882	c.803G>A	c.(802-804)tGc>tAc	p.C268Y	HDAC3_ENST00000469207.1_5'Flank|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	268	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GAGGTTAAAGCAGCCCAATCG	0.512																																																	0													127	114	118					5																	141007487		2203	4300	6503	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.803G>A	5.37:g.141007487C>T	ENSP00000302967:p.Cys268Tyr		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.C268Y	ENST00000305264.3	37	c.803	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869210	0.91587	.	.	ENSG00000171720	ENST00000305264;ENST00000523353;ENST00000523088	T;T;T	0.69435	-0.4;-0.4;-0.4	5.37	5.37	0.77165	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87471	0.2414	10	0.87932	D	0	-24.139	18.9064	0.92464	0.0:1.0:0.0:0.0	.	268	O15379	HDAC3_HUMAN	Y	268;77;193	ENSP00000302967:C268Y;ENSP00000430667:C77Y;ENSP00000429099:C193Y	ENSP00000302967:C268Y	C	-	2	0	HDAC3	140987671	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.627000	0.83176	2.788000	0.95919	0.650000	0.86243	TGC	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1		0.512	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	C	NM_003883		141007487	-1	no_errors	ENST00000305264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141007487	C	T	141007487	3	4	131	1	0	0	0	0	1	0	0	0	7028	710	25	4	507	4	HDAC3	5	141007487	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	140729	141007487	39907773	662	20802										
FCHSD1	89848	genome.wustl.edu	37	chr5	141024239	141024239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagggacaaagcctacctCgccgtgctggttccgagcct	11	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:141024239C>T	ENST00000435817.2	-	16	1593	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	FCHSD1_ENST00000522783.1_Missense_Mutation_p.E441K|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	515	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTACCTCGCCGTGCTGG	0.572																																																	0													62	66	65					5																	141024239		2009	4172	6181	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1543G>A	5.37:g.141024239C>T	ENSP00000399259:p.Glu515Lys		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E515K	ENST00000435817.2	37	c.1543	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382142	0.61845	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.42513	0.97;0.97;0.97	5.56	2.52	0.30459	Src homology-3 domain (4);	0.225043	0.35096	N	0.003454	T	0.22859	0.0552	N	0.11789	0.175	0.80722	D	1	P;B	0.42757	0.789;0.305	B;B	0.31337	0.128;0.069	T	0.10497	-1.0627	10	0.54805	T	0.06	-4.6682	16.3189	0.82938	0.0:0.3716:0.6284:0.0	.	195;515	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	K	515;441;198	ENSP00000399259:E515K;ENSP00000428677:E441K;ENSP00000430448:E198K	ENSP00000399259:E515K	E	-	1	0	FCHSD1	141004423	0.999000	0.42202	0.607000	0.28956	0.930000	0.56654	3.312000	0.51927	0.660000	0.30964	0.551000	0.68910	GAG	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.572	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	C	NM_033449		141024239	-1	no_errors	ENST00000435817	ensembl	human	known	70_37	missense	SNP	0.965	T	T	141024239	C	T	141024239	3	4	131	1	0	0	0	0	1	0	0	0	5807	893	31	1	549	1	FCHSD1	5	141024239	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	16752	141024239	39891021	663	20803										
KCTD16	57528	genome.wustl.edu	37	chr5	143586723	143586723	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcccaaggaagcgacacaaGaatctgccccccttcctccc	6	19	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:143586723G>T	ENST00000507359.3	+	2	1537	c.446G>T	c.(445-447)aGa>aTa	p.R149I	KCTD16_ENST00000512467.1_Missense_Mutation_p.R149I	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	149					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGCGACACAAGAATCTGCCCC	0.552																																																	0													87	93	91					5																	143586723		2203	4300	6503	SO:0001583	missense	57528			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.446G>T	5.37:g.143586723G>T	ENSP00000426548:p.Arg149Ile		Q9P2M9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R149I	ENST00000507359.3	37	c.446	CCDS34260.1	5	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753275	0.69648	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.46063	0.88;0.88	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.61053	-0.7140	10	0.38643	T	0.18	.	15.9966	0.80256	0.0:0.0:0.8643:0.1357	.	149	Q68DU8	KCD16_HUMAN	I	149	ENSP00000424151:R149I;ENSP00000426548:R149I	ENSP00000426548:R149I	R	+	2	0	KCTD16	143566916	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.817000	0.86213	1.389000	0.46526	0.561000	0.74099	AGA	KCTD16	-	NULL		0.552	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	G	XM_098368		143586723	1	no_errors	ENST00000507359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143586723	G	T	143586723	3	4	131	1	0	0	0	0	1	0	0	0	8123	942	33	3	448	3	KCTD16	5	143586723	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2562484	143586723	37328537	664	20804										
LARS	51520	genome.wustl.edu	37	chr5	145537109	145537109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgtacttcatatcaggacGaacccaacaatttgtctgcc	6	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145537109G>A	ENST00000394434.2	-	10	1088	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.R262C|LARS_ENST00000274562.9_Missense_Mutation_p.R281C|LARS_ENST00000510191.1_Missense_Mutation_p.R254C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	308	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R308C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATATCAGGACGAACCCAACAA	0.408																																																	1	Substitution - Missense(1)	skin(1)											90	77	82					5																	145537109		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.922C>T	5.37:g.145537109G>A	ENSP00000377954:p.Arg308Cys		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.R308C	ENST00000394434.2	37	c.922	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762958	0.49574	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.5	4.63	0.57726	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.168977	0.48767	D	0.000176	T	0.51346	0.1669	M	0.65975	2.015	0.58432	D	0.999991	P;B;P	0.47484	0.896;0.012;0.895	P;B;P	0.58520	0.84;0.007;0.796	T	0.53151	-0.8479	10	0.62326	D	0.03	-1.8079	9.7709	0.40589	0.0706:0.0:0.791:0.1384	.	281;262;308	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	C	308;262;254;281	ENSP00000377954:R308C;ENSP00000437791:R262C;ENSP00000426005:R254C;ENSP00000274562:R281C	ENSP00000274562:R281C	R	-	1	0	LARS	145517302	1.000000	0.71417	0.995000	0.50966	0.455000	0.32408	2.558000	0.45879	1.472000	0.48140	0.655000	0.94253	CGT	LARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk		0.408	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	G	NM_020117		145537109	-1	no_errors	ENST00000394434	ensembl	human	known	70_37	missense	SNP	0.999	A	A	145537109	G	A	145537109	3	1	131	1	0	0	0	0	1	0	0	0	8654	1058	37	1	2700	1	LARS	5	145537109	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1950386	145537109	35378151	665	20805										
RBM27	54439	genome.wustl.edu	37	chr5	145648833	145648833	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtgttagaaaagcaaataGaatgccaaaaggtaagacaa	9	4	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145648833G>T	ENST00000265271.5	+	16	2681	c.2515G>T	c.(2515-2517)Gaa>Taa	p.E839*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.E784*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	839					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGCAAATAGAATGCCAAAA	0.264																																																	0													99	99	99					5																	145648833		1568	3581	5149	SO:0001587	stop_gained	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2515G>T	5.37:g.145648833G>T	ENSP00000265271:p.Glu839*		Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.E839*	ENST00000265271.5	37	c.2515	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.381582	0.98248	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-17.1422	19.6974	0.96031	0.0:0.0:1.0:0.0	.	.	.	.	X	839	.	ENSP00000265271:E839X	E	+	1	0	RBM27	145629026	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.274000	0.78538	2.650000	0.89964	0.655000	0.94253	GAA	RBM27	-	NULL		0.264	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145648833	1	no_errors	ENST00000265271	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	145648833	G	T	145648833	4	4	131	1	0	0	0	0	0	1	0	0	13157	943	33	3	2577	3	RBM27	5	145648833	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	111724	145648833	35266427	666	20806										
TCERG1	10915	genome.wustl.edu	37	chr5	145878161	145878161	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagattcaaagcaattgaaaAgatgaaagaccgagaagcct	9	6	1	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145878161A>C	ENST00000296702.5	+	16	2332	c.2294A>C	c.(2293-2295)aAg>aCg	p.K765T	TCERG1_ENST00000394421.2_Missense_Mutation_p.K744T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	765	FF 2.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAATTGAAAAGATGAAAGAC	0.388																																																	0													109	111	110					5																	145878161		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2294A>C	5.37:g.145878161A>C	ENSP00000296702:p.Lys765Thr		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.K765T	ENST00000296702.5	37	c.2294	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262142	0.80358	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.29655	1.56;1.56	5.51	5.51	0.81932	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.81914	0.995;0.994	T	0.61662	-0.7017	10	0.42905	T	0.14	-19.2459	15.9178	0.79535	1.0:0.0:0.0:0.0	.	744;765	O14776-2;O14776	.;TCRG1_HUMAN	T	765;744	ENSP00000296702:K765T;ENSP00000377943:K744T	ENSP00000296702:K765T	K	+	2	0	TCERG1	145858354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.216000	0.71823	0.533000	0.62120	AAG	TCERG1	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	A	NM_001040006		145878161	1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	C	C	145878161	A	C	145878161	3	2	131	1	0	0	0	0	1	0	0	0	15715	72	3	5	2356	5	TCERG1	5	145878161	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	229328	145878161	35037099	667	20807										
PPP2R2B	5521	genome.wustl.edu	37	chr5	145969747	145969747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcacgcttggtgtttctgtcGaacatcctgaagaagttgtt	10	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145969747G>A	ENST00000394413.3	-	9	1665	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	PPP2R2B_ENST00000394411.4_Silent_p.F365F|PPP2R2B_ENST00000336640.6_Silent_p.F368F|PPP2R2B_ENST00000508545.2_Silent_p.F354F|PPP2R2B_ENST00000356826.3_Silent_p.F365F|PPP2R2B_ENST00000394410.2_Silent_p.F354F|PPP2R2B_ENST00000394409.3_Silent_p.F423F|PPP2R2B_ENST00000504198.1_Silent_p.F371F|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Silent_p.F431F|PPP2R2B_ENST00000453001.1_Silent_p.F365F			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	365					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTCTGTCGAACATCCTGA	0.502																																																	0													73	66	68					5																	145969747		2203	4300	6503	SO:0001819	synonymous_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1095C>T	5.37:g.145969747G>A			A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.F431	ENST00000394413.3	37	c.1293	CCDS4284.1	5																																																																																			PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.502	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	G	NM_181678		145969747	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	silent	SNP	0.995	A	A	145969747	G	A	145969747	2	1	131	1	0	0	0	0	0	0	0	1	12412	1049	37	1		1	PPP2R2B	5	145969747	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	91586	145969747	34945513	668	20808										
PPARGC1B	133522	genome.wustl.edu	37	chr5	149215909	149215909	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaagcatagtctaggcaaaGaaatagctctcagcctcccc	7	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149215909G>T	ENST00000309241.5	+	8	1923	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.E592*|PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.E631*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.E567*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	631					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTAGGCAAAGAAATAGCTCT	0.592																																																	0													116	117	117					5																	149215909		2203	4300	6503	SO:0001587	stop_gained	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1891G>T	5.37:g.149215909G>T	ENSP00000312649:p.Glu631*		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E631*	ENST00000309241.5	37	c.1891	CCDS4298.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.581486|3.581486	0.65992|0.65992	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750|ENST00000434684	.|.	.|.	.|.	4.3|4.3	3.43|3.43	0.39272|0.39272	.|.	0.968836|.	0.08555|.	N|.	0.928412|.	.|T	.|0.48822	.|0.1521	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57266	.|-0.7841	.|3	0.07482|.	T|.	0.82|.	-3.4149|-3.4149	8.1113|8.1113	0.30916|0.30916	0.0857:0.1588:0.7555:0.0|0.0857:0.1588:0.7555:0.0	.|.	.|.	.|.	.|.	X|I	592;631;631;567|317	.|.	ENSP00000312649:E631X|.	E|R	+|+	1|2	0|0	PPARGC1B|PPARGC1B	149196102|149196102	0.989000|0.989000	0.36119|0.36119	0.025000|0.025000	0.17156|0.17156	0.012000|0.012000	0.07955|0.07955	3.042000|3.042000	0.49815|0.49815	0.947000|0.947000	0.37659|0.37659	0.456000|0.456000	0.33151|0.33151	GAA|AGA	PPARGC1B	-	NULL		0.592	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	G	NM_133263		149215909	1	no_errors	ENST00000309241	ensembl	human	known	70_37	nonsense	SNP	0.600	T	T	149215909	G	T	149215909	4	4	131	1	0	0	0	0	0	1	0	0	12325	943	33	3	1928	3	PPARGC1B	5	149215909	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3246162	149215909	31699351	669	20809										
SLC26A2	1836	genome.wustl.edu	37	chr5	149360293	149360293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaccagaatggaacctaatTcctagtgtggctgtagatgc	11	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149360293T>C	ENST00000286298.4	+	3	1405	c.1137T>C	c.(1135-1137)atT>atC	p.I379I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	379					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAACCTAATTCCTAGTGTGG	0.383																																																	0													102	96	98					5																	149360293		2203	4300	6503	SO:0001819	synonymous_variant	1836			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1137T>C	5.37:g.149360293T>C			A8K2U3|B2R6J1|Q6N051	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I379	ENST00000286298.4	37	c.1137	CCDS4300.1	5																																																																																			SLC26A2	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	T	NM_000112		149360293	1	no_errors	ENST00000286298	ensembl	human	known	70_37	silent	SNP	0.993	C	C	149360293	T	C	149360293	2	2	131	1	0	0	0	0	0	0	0	1	14547	1771	62	5		5	SLC26A2	5	149360293	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	144384	149360293	31554967	670	20810										
PDGFRB	5159	genome.wustl.edu	37	chr5	149501549	149501549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcacatagtccaccgactcGtccttgctcatgtccatgta	8	14	1	0	rs555800957	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149501549G>A	ENST00000261799.4	-	16	2707	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACCGACTCGTCCTTGCTCA	0.547			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								G|||	2	0.000399361	0	0	5008	,	,		21480	0		0	False		,,,				2504	0.002							Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													268	198	222					5																	149501549		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2238C>T	5.37:g.149501549G>A			B5A957|Q8N5L4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.D746	ENST00000261799.4	37	c.2238	CCDS4303.1	5																																																																																			PDGFRB	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.547	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149501549	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	silent	SNP	0.317	A	A	149501549	G	A	149501549	2	1	131	1	0	0	0	0	0	0	0	1	11686	1136	40	2		2	PDGFRB	5	149501549	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	141256	149501549	31413711	671	20811										
SYNPO	11346	genome.wustl.edu	37	chr5	149997971	149997971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctccgccccttgcacccagCgaagggaggcctaccccctg	10	20	0	0	rs530718393	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149997971C>A	ENST00000394243.1	+	2	416	c.42C>A	c.(40-42)agC>agA	p.S14R	SYNPO_ENST00000522122.1_Missense_Mutation_p.S14R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	14					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCACCCAGCGAAGGGAGGC	0.667																																																	0													21	26	24					5																	149997971		692	1591	2283	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.42C>A	5.37:g.149997971C>A	ENSP00000377789:p.Ser14Arg		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S14R	ENST00000394243.1	37	c.42	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881845	0.33255	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.32515	1.45;1.45	5.12	-8.29	0.01009	.	0.912783	0.09141	N	0.842883	T	0.19046	0.0457	L	0.44542	1.39	0.09310	N	0.999996	P	0.42161	0.772	B	0.38683	0.279	T	0.10989	-1.0606	10	0.72032	D	0.01	-0.134	5.7067	0.17913	0.1019:0.1724:0.1012:0.6245	.	14	Q8N3V7	SYNPO_HUMAN	R	14	ENSP00000377789:S14R;ENSP00000428378:S14R	ENSP00000377789:S14R	S	+	3	2	SYNPO	149978164	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-3.844000	0.00352	-1.780000	0.01279	0.561000	0.74099	AGC	SYNPO	-	NULL		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	C	NM_007286		149997971	1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.000	A	A	149997971	C	A	149997971	3	1	131	1	0	0	0	0	1	0	0	0	15486	767	27	2	44	2	SYNPO	5	149997971	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	496422	149997971	30917289	672	20812										
ZNF300	91975	genome.wustl.edu	37	chr5	150275824	150275824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttttccacattcagaacaaTcataaggtttctccccagta	4	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150275824T>G	ENST00000274599.5	-	6	1397	c.977A>C	c.(976-978)gAt>gCt	p.D326A	ZNF300_ENST00000394226.2_Missense_Mutation_p.D326A|ZNF300_ENST00000446148.2_Missense_Mutation_p.D342A|ZNF300_ENST00000418587.2_Missense_Mutation_p.D290A|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAACAATCATAAGGTTT	0.418																																																	0													81	86	84					5																	150275824		2202	4298	6500	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.977A>C	5.37:g.150275824T>G	ENSP00000274599:p.Asp326Ala		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D342A	ENST00000274599.5	37	c.1025	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	9.063	0.995025	0.19043	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	3.59	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.01576	-0.805	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.33979	-0.9847	9	0.37606	T	0.19	.	3.6273	0.08117	0.0:0.1228:0.2289:0.6483	.	326	Q96RE9	ZN300_HUMAN	A	342;326;290;326	ENSP00000397178:D342A;ENSP00000274599:D326A;ENSP00000392593:D290A;ENSP00000377773:D326A	ENSP00000274599:D326A	D	-	2	0	ZNF300	150256017	0.000000	0.05858	0.974000	0.42286	0.995000	0.86356	-0.662000	0.05305	0.581000	0.29539	0.460000	0.39030	GAT	ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		T	NM_052860		150275824	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	0.079	G	G	150275824	T	G	150275824	3	3	131	1	0	0	0	0	1	0	0	0	17861	1435	50	5	841	5	ZNF300	5	150275824	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	277853	150275824	30639436	673	20813										
SLC36A3	285641	genome.wustl.edu	37	chr5	150663650	150663650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctggcctgggtgtctgacCcaaacttcatgtagcccagt	11	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150663650C>A	ENST00000335230.3	-	8	1340	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.G351V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	310						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTCTGACCCAAACTTCAT	0.493																																																	0													184	162	170					5																	150663650		2203	4300	6503	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.929G>T	5.37:g.150663650C>A	ENSP00000334750:p.Gly310Val		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.G351V	ENST00000335230.3	37	c.1052	CCDS4314.1	5	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762379	0.69763	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.07021	3.23;3.23	4.2	3.33	0.38152	.	0.051359	0.85682	D	0.000000	T	0.40791	0.1131	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.985	T	0.58662	-0.7597	10	0.87932	D	0	-20.7897	12.2439	0.54560	0.0:0.9174:0.0:0.0826	.	351;310;295	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	310;351	ENSP00000334750:G310V;ENSP00000366942:G351V	ENSP00000334750:G310V	G	-	2	0	SLC36A3	150643843	1.000000	0.71417	0.784000	0.31847	0.911000	0.54048	5.228000	0.65310	1.134000	0.42165	0.655000	0.94253	GGG	SLC36A3	-	pfam_AA_transpt_TM		0.493	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	C	NM_181774		150663650	-1	no_errors	ENST00000377713	ensembl	human	known	70_37	missense	SNP	0.996	A	A	150663650	C	A	150663650	3	1	131	1	0	0	0	0	1	0	0	0	14625	623	22	4	495	4	SLC36A3	5	150663650	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	387826	150663650	30251610	674	20814										
FAT2	2196	genome.wustl.edu	37	chr5	150923212	150923212	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggttccaaccattgcattCtctgctaattctgcctcata	5	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150923212C>T	ENST00000261800.5	-	9	7488	c.7476G>A	c.(7474-7476)gaG>gaA	p.E2492E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2492	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTGCATTCTCTGCTAATT	0.428																																																	0													92	96	95					5																	150923212		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7476G>A	5.37:g.150923212C>T			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E2492	ENST00000261800.5	37	c.7476	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150923212	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	silent	SNP	0.996	T	T	150923212	C	T	150923212	2	4	131	1	0	0	0	0	0	0	0	1	5708	912	32	1		1	FAT2	5	150923212	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	259562	150923212	29992048	675	20815										
GLRA1	2741	genome.wustl.edu	37	chr5	151208606	151208606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcaaactgccatccaaatgTcaatggctttcacataggac	8	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:151208606T>C	ENST00000455880.2	-	8	1221	c.935A>G	c.(934-936)gAc>gGc	p.D312G	GLRA1_ENST00000545569.1_Missense_Mutation_p.D229G|GLRA1_ENST00000274576.4_Missense_Mutation_p.D312G			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	312					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCCAAATGTCAATGGCTTT	0.468																																																	0													99	93	95					5																	151208606		2203	4300	6503	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.935A>G	5.37:g.151208606T>C	ENSP00000411593:p.Asp312Gly		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel	p.D312G	ENST00000455880.2	37	c.935	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643239	0.87859	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.88124	-2.34;-2.34;-2.34	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	M	0.93283	3.4	0.80722	D	1	P;P;P	0.39809	0.689;0.62;0.454	P;P;B	0.52710	0.707;0.639;0.419	D	0.95242	0.8352	10	0.87932	D	0	.	15.1386	0.72590	0.0:0.0:0.0:1.0	.	312;229;312	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	G	312;312;229	ENSP00000274576:D312G;ENSP00000411593:D312G;ENSP00000445913:D229G	ENSP00000274576:D312G	D	-	2	0	GLRA1	151188799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	2.042000	0.60477	0.528000	0.53228	GAC	GLRA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	HGNC	protein_coding	OTTHUMT00000373959.1	T			151208606	-1	no_errors	ENST00000455880	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151208606	T	C	151208606	3	2	131	1	0	0	0	0	1	0	0	0	6473	1667	58	5	446	5	GLRA1	5	151208606	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	285394	151208606	29706654	676	20816										
LARP1	23367	genome.wustl.edu	37	chr5	154173553	154173553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggggacgcggccggggtggCactcgaagtacgtgaggccc	19	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:154173553C>T	ENST00000336314.4	+	6	855	c.831C>T	c.(829-831)ggC>ggT	p.G277G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	354					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGGGTGGCACTCGAAGTA	0.687																																																	0													58	61	60					5																	154173553		2203	4300	6503	SO:0001819	synonymous_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.831C>T	5.37:g.154173553C>T			O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.G277	ENST00000336314.4	37	c.831	CCDS4328.1	5																																																																																			LARP1	-	NULL		0.687	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154173553	1	no_errors	ENST00000336314	ensembl	human	known	70_37	silent	SNP	0.994	T	T	154173553	C	T	154173553	2	4	131	1	0	0	0	0	0	0	0	1	8648	697	25	4		4	LARP1	5	154173553	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2964947	154173553	26741707	677	20817										
MRPL22	29093	genome.wustl.edu	37	chr5	154330435	154330435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctcttgacatttctcgaaaAtgggagaagaagaataaaat	8	5	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:154330435A>C	ENST00000523037.1	+	3	173	c.132A>C	c.(130-132)aaA>aaC	p.K44N	MRPL22_ENST00000439747.3_Missense_Mutation_p.K70N|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Missense_Mutation_p.K50N	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	44					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTCGAAAATGGGAGAAGA	0.403																																																	0													113	110	111					5																	154330435		2203	4300	6503	SO:0001583	missense	29093			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.132A>C	5.37:g.154330435A>C	ENSP00000431040:p.Lys44Asn		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.K44N	ENST00000523037.1	37	c.132	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199362	0.38806	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.51817	0.7;0.69;0.74	4.9	0.747	0.18371	.	0.357320	0.35040	N	0.003490	T	0.35451	0.0932	L	0.44542	1.39	0.42761	D	0.993809	B	0.06786	0.001	B	0.10450	0.005	T	0.14587	-1.0467	10	0.49607	T	0.09	-10.3986	8.0687	0.30676	0.7096:0.0:0.2904:0.0	.	44	Q9NWU5	RM22_HUMAN	N	44;70;50	ENSP00000431040:K44N;ENSP00000411177:K70N;ENSP00000429039:K50N	ENSP00000411177:K70N	K	+	3	2	MRPL22	154310628	0.139000	0.22563	0.993000	0.49108	0.987000	0.75469	0.338000	0.19858	0.223000	0.20920	0.482000	0.46254	AAA	MRPL22	-	NULL		0.403	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	A			154330435	1	no_errors	ENST00000523037	ensembl	human	known	70_37	missense	SNP	0.797	C	C	154330435	A	C	154330435	3	2	131	1	0	0	0	0	1	0	0	0	9811	98	4	5	142	5	MRPL22	5	154330435	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	156882	154330435	26584825	678	20818										
KIF4B	285643	genome.wustl.edu	37	chr5	154395747	154395747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacagaaagatcctggctcaGgatgtggttcaactcaaaga	11	8	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:154395747G>T	ENST00000435029.4	+	1	2488	c.2328G>T	c.(2326-2328)caG>caT	p.Q776H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	776	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCTGGCTCAGGATGTGGTTC	0.448																																																	0													59	60	59					5																	154395747		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2328G>T	5.37:g.154395747G>T	ENSP00000387875:p.Gln776His			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q776H	ENST00000435029.4	37	c.2328	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642625	0.29246	.	.	ENSG00000226650	ENST00000435029	T	0.68903	-0.36	2.13	-4.26	0.03755	.	.	.	.	.	T	0.46521	0.1397	L	0.41710	1.295	0.46185	D	0.998917	B	0.28552	0.215	B	0.22601	0.04	T	0.04693	-1.0933	9	0.40728	T	0.16	.	3.8877	0.09105	0.5045:0.0:0.3257:0.1698	.	776	Q2VIQ3	KIF4B_HUMAN	H	776	ENSP00000387875:Q776H	ENSP00000387875:Q776H	Q	+	3	2	KIF4B	154375940	1.000000	0.71417	0.902000	0.35471	0.962000	0.63368	3.478000	0.53158	-1.359000	0.02174	-0.259000	0.10710	CAG	KIF4B	-	NULL		0.448	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	G			154395747	1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	0.998	T	T	154395747	G	T	154395747	3	4	131	1	0	0	0	0	1	0	0	0	8324	991	35	4	2330	4	KIF4B	5	154395747	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	65312	154395747	26519513	679	20819										
ADAM19	8728	genome.wustl.edu	37	chr5	156997957	156997957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaggtatgataagttcatgCtgcagcttggggctgccttc	13	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:156997957C>A	ENST00000517905.1	-	2	170	c.126G>T	c.(124-126)caG>caT	p.Q42H	ADAM19_ENST00000394020.1_Missense_Mutation_p.Q44H|ADAM19_ENST00000257527.4_Missense_Mutation_p.Q42H|ADAM19_ENST00000430702.2_5'UTR|AC106801.1_ENST00000518054.1_RNA			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	42					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTTCATGCTGCAGCTTGG	0.483																																																	0													119	115	116					5																	156997957		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.126G>T	5.37:g.156997957C>A	ENSP00000428654:p.Gln42His		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q44H	ENST00000517905.1	37	c.132		5	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467163	0.43839	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01538	4.8;4.82;4.79	5.03	4.15	0.48705	.	0.000000	0.52532	D	0.000077	T	0.02012	0.0063	L	0.41356	1.27	0.35063	D	0.761775	B	0.09022	0.002	B	0.12156	0.007	T	0.42832	-0.9428	10	0.23891	T	0.37	.	10.1207	0.42618	0.0:0.9045:0.0:0.0955	.	42	Q9H013-2	.	H	42;44;42	ENSP00000257527:Q42H;ENSP00000377588:Q44H;ENSP00000428654:Q42H	ENSP00000257527:Q42H	Q	-	3	2	ADAM19	156930535	0.997000	0.39634	0.999000	0.59377	0.824000	0.46624	0.428000	0.21395	1.206000	0.43276	0.655000	0.94253	CAG	ADAM19	-	pfam_Peptidase_M12B_N		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	C	NM_033274		156997957	-1	no_errors	ENST00000394020	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156997957	C	A	156997957	3	1	131	1	0	0	0	0	1	0	0	0	240	796	28	4	2718	4	ADAM19	5	156997957	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2602210	156997957	23917303	680	20820										
THG1L	54974	genome.wustl.edu	37	chr5	157162884	157162884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taatctttataatacagtttTctgggcacttatacaacaat	4	7	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:157162884T>C	ENST00000231198.7	+	4	813	c.569T>C	c.(568-570)tTc>tCc	p.F190S	AC026407.1_ENST00000599823.1_5'Flank	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	190					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATACAGTTTTCTGGGCACTT	0.318																																																	0													76	76	76					5																	157162884		2203	4300	6503	SO:0001583	missense	54974			AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"interphase cytoplasmic foci protein 45"					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.569T>C	5.37:g.157162884T>C	ENSP00000231198:p.Phe190Ser		D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1	p.F190S	ENST00000231198.7	37	c.569	CCDS4341.1	5	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419715	0.83559	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	T	0.56103	0.48	5.89	4.7	0.59300	.	0.045571	0.85682	D	0.000000	T	0.79387	0.4437	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.79108	0.992;0.959	D	0.84217	0.0459	10	0.87932	D	0	-17.7269	12.2921	0.54825	0.1271:0.0:0.0:0.8729	.	58;190	B4E366;Q9NWX6	.;THG1_HUMAN	S	190;65	ENSP00000231198:F190S	ENSP00000231198:F190S	F	+	2	0	THG1L	157095462	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.520000	0.67080	1.012000	0.39366	0.533000	0.62120	TTC	THG1L	-	pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1		0.318	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THG1L	HGNC	protein_coding	OTTHUMT00000252579.2	T	NM_017872		157162884	1	no_errors	ENST00000231198	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157162884	T	C	157162884	3	2	131	1	0	0	0	0	1	0	0	0	15891	1783	62	5	583	5	THG1L	5	157162884	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	164927	157162884	23752376	681	20821										
HMMR	3161	genome.wustl.edu	37	chr5	162900249	162900249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaactcttggaatacatcGaagaaattaggtaatatgag	8	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:162900249G>A	ENST00000358715.3	+	8	748	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	HMMR_ENST00000393915.4_Missense_Mutation_p.E239K|HMMR_ENST00000432118.2_Missense_Mutation_p.E152K|HMMR_ENST00000353866.3_Missense_Mutation_p.E223K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	238					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GGAATACATCGAAGAAATTAG	0.269																																																	0													32	34	34					5																	162900249		2178	4271	6449	SO:0001583	missense	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.712G>A	5.37:g.162900249G>A	ENSP00000351554:p.Glu238Lys		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.E239K	ENST00000358715.3	37	c.715	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194170	0.38707	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.61	1.15	0.20763	.	0.587034	0.18601	N	0.136458	T	0.06416	0.0165	L	0.54323	1.7	0.09310	N	0.999999	P;P;P;P	0.39964	0.697;0.519;0.697;0.697	B;B;B;B	0.33339	0.162;0.052;0.103;0.103	T	0.29852	-0.9998	10	0.36615	T	0.2	-10.9908	4.2065	0.10491	0.1022:0.4109:0.3481:0.1388	.	152;239;223;238	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	124;223;223;239;215;152;238	ENSP00000400527:E124K;ENSP00000185942:E223K;ENSP00000377492:E239K;ENSP00000402673:E152K;ENSP00000351554:E238K	ENSP00000185942:E223K	E	+	1	0	HMMR	162832827	0.719000	0.27986	0.531000	0.27976	0.931000	0.56810	1.041000	0.30291	0.283000	0.22279	-0.150000	0.13652	GAA	HMMR	-	NULL		0.269	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162900249	1	no_errors	ENST00000393915	ensembl	human	known	70_37	missense	SNP	0.067	A	A	162900249	G	A	162900249	3	1	131	1	0	0	0	0	1	0	0	0	7262	1059	37	1	745	1	HMMR	5	162900249	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5737365	162900249	18015011	682	20822										
SLIT3	6586	genome.wustl.edu	37	chr5	168114012	168114012	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgggggcaggtgcatgtgtAgccattgattgtgtccacgc	15	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:168114012A>C	ENST00000519560.1	-	30	3705	c.3286T>G	c.(3286-3288)Tac>Gac	p.Y1096D	SLIT3_ENST00000332966.8_Missense_Mutation_p.Y1103D|SLIT3_ENST00000404867.3_Missense_Mutation_p.Y1096D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1096	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCATGTGTAGCCATTGATT	0.627																																					Ovarian(29;311 847 10864 17279 24903)												0													77	70	73					5																	168114012		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3286T>G	5.37:g.168114012A>C	ENSP00000430333:p.Tyr1096Asp		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.Y1096D	ENST00000519560.1	37	c.3286	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	A	13.15	2.152696	0.38021	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95724	-3.79;-3.79;-3.79	4.59	3.4	0.38934	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.98111	4.15	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.97749	1.0213	10	0.87932	D	0	.	9.9623	0.41704	0.848:0.0:0.0:0.152	.	1096	O75094	SLIT3_HUMAN	D	1096;1103;1096	ENSP00000430333:Y1096D;ENSP00000332164:Y1103D;ENSP00000384890:Y1096D	ENSP00000332164:Y1103D	Y	-	1	0	SLIT3	168046590	1.000000	0.71417	0.999000	0.59377	0.082000	0.17680	9.310000	0.96267	0.692000	0.31613	-0.490000	0.04691	TAC	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	A	NM_003062		168114012	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	168114012	A	C	168114012	3	2	131	1	0	0	0	0	1	0	0	0	14771	420	15	5	1313	5	SLIT3	5	168114012	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	5213763	168114012	12801248	683	20823										
SLIT3	6586	genome.wustl.edu	37	chr5	168180967	168180967	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcacgctggctgctccatcGaaagctccctctcgcacctc	8	18	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:168180967G>A	ENST00000519560.1	-	17	2150	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_ENST00000332966.8_Silent_p.F577F|SLIT3_ENST00000404867.3_Silent_p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	577					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCTCCATCGAAAGCTCCCT	0.532																																					Ovarian(29;311 847 10864 17279 24903)												0													38	36	37					5																	168180967		2203	4300	6503	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1731C>T	5.37:g.168180967G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.F577	ENST00000519560.1	37	c.1731	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp		0.532	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	G	NM_003062		168180967	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	0.813	A	A	168180967	G	A	168180967	2	1	131	1	0	0	0	0	0	0	0	1	14771	1049	37	1		1	SLIT3	5	168180967	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	66955	168180967	12734293	684	20824										
DOCK2	1794	genome.wustl.edu	37	chr5	169461438	169461438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcagagcacccaaccattgCcaagtcggtggagaacttcg	11	12	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:169461438C>T	ENST00000256935.8	+	35	3583	c.3503C>T	c.(3502-3504)gCc>gTc	p.A1168V	DOCK2_ENST00000540750.1_Missense_Mutation_p.A229V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.A660V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1168	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACCATTGCCAAGTCGGTG	0.577																																																	0													101	96	98					5																	169461438		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3503C>T	5.37:g.169461438C>T	ENSP00000256935:p.Ala1168Val		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.A1168V	ENST00000256935.8	37	c.3503	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048872	0.19827	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.42513	0.97;0.97;0.97	5.63	3.78	0.43462	.	0.800290	0.12107	N	0.498921	T	0.33381	0.0861	L	0.56769	1.78	0.32327	N	0.561667	B;B	0.17038	0.02;0.006	B;B	0.14023	0.01;0.01	T	0.36578	-0.9742	10	0.17832	T	0.49	.	3.2176	0.06704	0.1421:0.565:0.1374:0.1554	.	660;1168	E7ERW7;Q92608	.;DOCK2_HUMAN	V	1168;660;229	ENSP00000256935:A1168V;ENSP00000429283:A660V;ENSP00000438827:A229V	ENSP00000256935:A1168V	A	+	2	0	DOCK2	169394016	0.137000	0.22531	0.904000	0.35570	0.392000	0.30506	0.514000	0.22786	0.676000	0.31285	0.655000	0.94253	GCC	DOCK2	-	superfamily_ARM-type_fold		0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	C	NM_004946		169461438	1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	0.944	T	T	169461438	C	T	169461438	3	4	131	1	0	0	0	0	1	0	0	0	4697	739	26	4	3641	4	DOCK2	5	169461438	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1280471	169461438	11453822	685	20825										
DOCK2	1794	genome.wustl.edu	37	chr5	169472857	169472857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtctgtgcaaggagctggCggaacagtacgagatggaga	16	6	1	2	rs370316549		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:169472857C>T	ENST00000256935.8	+	39	3994	c.3914C>T	c.(3913-3915)gCg>gTg	p.A1305V	DOCK2_ENST00000540750.1_Missense_Mutation_p.A366V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.A797V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1305	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A1305V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGGAGCTGGCGGAACAGTAC	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		20836	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA	0,4406		0,0,2203	185	164	171		3914	5.2	0.9	5		171	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK2	NM_004946.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1305/1831	169472857	1,13005	2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3914C>T	5.37:g.169472857C>T	ENSP00000256935:p.Ala1305Val		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.A1305V	ENST00000256935.8	37	c.3914	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669958	0.67814	0.0	1.16E-4	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.67698	-0.28;-0.28;4.59	5.15	5.15	0.70609	.	0.059605	0.64402	D	0.000003	T	0.54791	0.1880	L	0.55834	1.745	0.50171	D	0.999853	D;B	0.53885	0.963;0.35	B;B	0.25614	0.062;0.013	T	0.61860	-0.6976	10	0.29301	T	0.29	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	797;1305	E7ERW7;Q92608	.;DOCK2_HUMAN	V	1305;797;366	ENSP00000256935:A1305V;ENSP00000429283:A797V;ENSP00000438827:A366V	ENSP00000256935:A1305V	A	+	2	0	DOCK2	169405435	1.000000	0.71417	0.948000	0.38648	0.885000	0.51271	4.878000	0.63093	2.379000	0.81126	0.561000	0.74099	GCG	DOCK2	-	NULL		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	C	NM_004946		169472857	1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	0.999	T	T	169472857	C	T	169472857	3	4	131	1	0	0	0	0	1	0	0	0	4697	768	27	2	4068	2	DOCK2	5	169472857	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	11419	169472857	11442403	686	20826										
FBXW11	23291	genome.wustl.edu	37	chr5	171305107	171305107	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtcctgttaacactttcaaAcattccaggctggttttatc	6	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:171305107A>C	ENST00000265094.5	-	7	953	c.816T>G	c.(814-816)tgT>tgG	p.C272W	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.C259W|FBXW11_ENST00000425623.2_Missense_Mutation_p.C240W|FBXW11_ENST00000393802.2_Missense_Mutation_p.C238W	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	272					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACACTTTCAAACATTCCAGGC	0.403																																																	0													94	85	88					5																	171305107		2203	4300	6503	SO:0001583	missense	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.816T>G	5.37:g.171305107A>C	ENSP00000265094:p.Cys272Trp		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.C272W	ENST00000265094.5	37	c.816	CCDS34289.1	5	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743161	0.69418	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	H	0.94771	3.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.995;0.992	D	0.86287	0.1671	10	0.87932	D	0	-15.8413	9.6067	0.39637	0.9209:0.0:0.0791:0.0	.	240;238;272;259	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	W	259;272;238;240	ENSP00000296933:C259W;ENSP00000265094:C272W;ENSP00000377391:C238W;ENSP00000444929:C240W	ENSP00000265094:C272W	C	-	3	2	FBXW11	171237712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.602000	0.61098	2.100000	0.63781	0.472000	0.43445	TGT	FBXW11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1	A	NM_012300		171305107	-1	no_errors	ENST00000265094	ensembl	human	known	70_37	missense	SNP	1.000	C	C	171305107	A	C	171305107	3	2	131	1	0	0	0	0	1	0	0	0	5782	41	2	5	836	5	FBXW11	5	171305107	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1832250	171305107	9610153	687	20827										
ERGIC1	57222	genome.wustl.edu	37	chr5	172359474	172359474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actacatcctgaagattgtgCccacggtttatgaggacaag	10	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:172359474C>T	ENST00000393784.3	+	8	716	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	193					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGATTGTGCCCACGGTTTA	0.622											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	63	68					5																	172359474		2203	4300	6503	SO:0001583	missense	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.577C>T	5.37:g.172359474C>T	ENSP00000377374:p.Pro193Ser	237	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	pfam_DUF1692	p.P193S	ENST00000393784.3	37	c.577	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.377380	0.95945	.	.	ENSG00000113719	ENST00000393784	.	.	.	4.9	4.9	0.64082	Domain of unknown function DUF1692 (1);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81726	-0.0801	9	0.59425	D	0.04	-28.5067	17.7211	0.88351	0.0:1.0:0.0:0.0	.	138;193	B4E0N6;Q969X5	.;ERGI1_HUMAN	S	193	.	ENSP00000377374:P193S	P	+	1	0	ERGIC1	172292080	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.565000	0.82337	2.272000	0.75746	0.655000	0.94253	CCC	ERGIC1	-	pfam_DUF1692		0.622	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	C	NM_020462		172359474	1	no_errors	ENST00000393784	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172359474	C	T	172359474	3	4	131	1	0	0	0	0	1	0	0	0	5235	739	26	4	607	4	ERGIC1	5	172359474	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1054367	172359474	8555786	688	20828										
THOC3	84321	genome.wustl.edu	37	chr5	175392151	175392151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggactccagcagatattaatGttctcccctgggaacccaga	9	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:175392151G>A	ENST00000265097.4	-	3	522	c.432C>T	c.(430-432)aaC>aaT	p.N144N	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'UTR|THOC3_ENST00000513482.1_Silent_p.N144N	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	144					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)		AGATATTAATGTTCTCCCCTG	0.443																																																	0													44	49	47					5																	175392151		2186	4261	6447	SO:0001819	synonymous_variant	84321			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.432C>T	5.37:g.175392151G>A			Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T92I	ENST00000265097.4	37	c.275	CCDS4397.1	5																																																																																			THOC3	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.443	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	G			175392151	-1	no_errors	ENST00000513006	ensembl	human	known	70_37	missense	SNP	1.000	A	A	175392151	G	A	175392151	2	1	131	1	0	0	0	0	0	0	0	1	15896	1368	48	4		4	THOC3	5	175392151	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3032677	175392151	5523109	689	20829										
SLC34A1	6569	genome.wustl.edu	37	chr5	176825089	176825089	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacctgcccaagtggttacaGacatgggacttcctgcctcg	10	14	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:176825089G>T	ENST00000324417.5	+	13	1813	c.1722G>T	c.(1720-1722)caG>caT	p.Q574H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	574					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGGTTACAGACATGGGACT	0.652																																																	0													77	81	80					5																	176825089		2203	4300	6503	SO:0001583	missense	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1722G>T	5.37:g.176825089G>T	ENSP00000321424:p.Gln574His		B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.Q574H	ENST00000324417.5	37	c.1722	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754547	0.31046	.	.	ENSG00000131183	ENST00000324417	T	0.34275	1.37	5.34	2.54	0.30619	.	0.212459	0.42964	D	0.000634	T	0.46367	0.1389	L	0.51914	1.62	0.29090	N	0.882178	D	0.69078	0.997	D	0.66847	0.947	T	0.36601	-0.9741	10	0.72032	D	0.01	-20.0785	6.4441	0.21867	0.2124:0.1301:0.6575:0.0	.	574	Q06495	NPT2A_HUMAN	H	574	ENSP00000321424:Q574H	ENSP00000321424:Q574H	Q	+	3	2	SLC34A1	176757695	1.000000	0.71417	0.832000	0.32986	0.038000	0.13279	0.955000	0.29188	0.619000	0.30197	0.455000	0.32223	CAG	SLC34A1	-	tigrfam_Na/Pi_transpt		0.652	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	G	NM_003052		176825089	1	no_errors	ENST00000324417	ensembl	human	known	70_37	missense	SNP	0.931	T	T	176825089	G	T	176825089	3	4	131	1	0	0	0	0	1	0	0	0	14597	933	33	3	1859	3	SLC34A1	5	176825089	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1432938	176825089	4090171	690	20830										
FAM193B	54540	genome.wustl.edu	37	chr5	176959530	176959530	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatgaggtgcaggagcttcGctcagagctgctatcctctt	13	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:176959530G>A	ENST00000514747.1	-	5	1237	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000443375.2_Nonsense_Mutation_p.R284*|FAM193B_ENST00000329540.5_5'UTR	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	397						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CAGGAGCTTCGCTCAGAGCTG	0.602																																																	0													29	34	33					5																	176959530		2080	4240	6320	SO:0001587	stop_gained	54540				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1189C>T	5.37:g.176959530G>A	ENSP00000422131:p.Arg397*		E9PET5|Q9NW00	Nonsense_Mutation	SNP	NULL	p.R284*	ENST00000514747.1	37	c.850	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493186|5.493186	0.96339|0.96339	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375	.|.	.|.	.|.	5.27|5.27	4.4|4.4	0.53042|0.53042	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|.	0.40909|.	0.1136|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	4|.	.|0.02654	.|T	.|1	-5.5911|-5.5911	14.0544|14.0544	0.64759|0.64759	0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0	.|.	.|.	.|.	.|.	V|X	2|397;284	.|.	.|ENSP00000410098:R284X	A|R	-|-	2|1	0|2	FAM193B|FAM193B	176892136|176892136	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.974000|0.974000	0.67602|0.67602	5.030000|5.030000	0.64128|0.64128	1.220000|1.220000	0.43490|0.43490	0.467000|0.467000	0.42956|0.42956	GCG|CGA	FAM193B	-	NULL		0.602	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	G	NM_019057		176959530	-1	no_errors	ENST00000443375	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	176959530	G	A	176959530	4	1	131	1	0	0	0	0	0	1	0	0	5540	1095	38	2	1539	2	FAM193B	5	176959530	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	134441	176959530	3955730	691	20831										
CLK4	57396	genome.wustl.edu	37	chr5	178043942	178043942	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccttcacccaaagtgtccacGatttcatctagagtgaggag	9	11	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178043942G>A	ENST00000316308.4	-	5	651	c.483C>T	c.(481-483)atC>atT	p.I161I	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AAGTGTCCACGATTTCATCTA	0.373																																																	0													100	92	95					5																	178043942		2203	4300	6503	SO:0001819	synonymous_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.483C>T	5.37:g.178043942G>A				Missense_Mutation	SNP	NULL	p.S131L	ENST00000316308.4	37	c.392	CCDS4437.1	5																																																																																			CLK4	-	NULL		0.373	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	G			178043942	-1	no_errors	ENST00000522136	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178043942	G	A	178043942	2	1	131	1	0	0	0	0	0	0	0	1	3544	1048	37	1		1	CLK4	5	178043942	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1084412	178043942	2871318	692	20832										
ZFP2	80108	genome.wustl.edu	37	chr5	178358445	178358445	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaaaccttcactgagatgaGagtatgtggaggtaatgaat	13	4	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178358445G>A	ENST00000361362.2	+	5	661	c.131G>A	c.(130-132)aGa>aAa	p.R44K	ZFP2_ENST00000520301.1_Missense_Mutation_p.R44K|ZFP2_ENST00000503510.2_Missense_Mutation_p.R44K|ZFP2_ENST00000523286.1_Missense_Mutation_p.R44K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		ACTGAGATGAGAGTATGTGGA	0.423																																																	0													104	103	103					5																	178358445		2203	4300	6503	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.131G>A	5.37:g.178358445G>A	ENSP00000354453:p.Arg44Lys		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R44K	ENST00000361362.2	37	c.131	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	g	0	-2.785614	0.00078	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.31	-0.957	0.10350	.	0.470641	0.15873	N	0.240405	T	0.03263	0.0095	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.02654	T	1	-1.5873	4.2342	0.10618	0.4787:0.0:0.3597:0.1616	.	44	Q6ZN57	ZFP2_HUMAN	K	44	ENSP00000354453:R44K;ENSP00000430980:R44K;ENSP00000430531:R44K;ENSP00000438114:R44K	ENSP00000354453:R44K	R	+	2	0	ZFP2	178291051	0.001000	0.12720	0.003000	0.11579	0.074000	0.17049	0.464000	0.21988	-0.098000	0.12285	-0.469000	0.05056	AGA	ZFP2	-	NULL		0.423	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	G	NM_030613		178358445	1	no_errors	ENST00000361362	ensembl	human	known	70_37	missense	SNP	0.003	A	A	178358445	G	A	178358445	3	1	131	1	0	0	0	0	1	0	0	0	17671	942	33	1	133	1	ZFP2	5	178358445	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	314503	178358445	2556815	693	20833										
GRM6	2916	genome.wustl.edu	37	chr5	178416330	178416330	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcagtttgcagttaaaattCtcttcccagaactcggcgaa	8	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178416330C>A	ENST00000517717.1	-	6	1127	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	GRM6_ENST00000231188.5_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	363					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGTTAAAATTCTCTTCCCAGA	0.547																																																	0													95	93	94					5																	178416330		2203	4300	6503	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1089G>T	5.37:g.178416330C>A	ENSP00000430767:p.Glu363Asp			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E363D	ENST00000517717.1	37	c.1089	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673092	0.14776	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86030	-2.06;-2.06	5.07	0.809	0.18725	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.67211	0.2869	N	0.16098	0.37	0.35270	D	0.780358	B	0.06786	0.001	B	0.11329	0.006	T	0.56195	-0.8019	9	0.16896	T	0.51	.	4.8457	0.13512	0.0:0.432:0.2741:0.2939	.	363	O15303	GRM6_HUMAN	D	395;363;363	ENSP00000231188:E363D;ENSP00000430767:E363D	ENSP00000231188:E363D	E	-	3	2	GRM6	178348936	0.574000	0.26684	1.000000	0.80357	0.977000	0.68977	-0.032000	0.12266	0.266000	0.21894	0.655000	0.94253	GAG	GRM6	-	pfam_ANF_lig-bd_rcpt		0.547	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	C			178416330	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178416330	C	A	178416330	3	1	131	1	0	0	0	0	1	0	0	0	6821	912	32	3	1568	3	GRM6	5	178416330	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	57885	178416330	2498930	694	20834										
ZNF354C	30832	genome.wustl.edu	37	chr5	178506476	178506476	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaacttcacaggcatcaaaGaatccatacaggtgagaaac	7	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178506476G>T	ENST00000315475.6	+	5	1349	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGGCATCAAAGAATCCATACA	0.423																																																	0													143	154	150					5																	178506476		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1043G>T	5.37:g.178506476G>T	ENSP00000324064:p.Arg348Ile		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R348I	ENST00000315475.6	37	c.1043	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307499	0.60305	.	.	ENSG00000177932	ENST00000315475	T	0.24908	1.83	4.04	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30727	0.0774	L	0.56199	1.76	0.44188	D	0.997001	D	0.52996	0.957	P	0.52909	0.713	T	0.04333	-1.0959	9	0.45353	T	0.12	-8.7618	5.1462	0.14987	0.1073:0.0:0.6892:0.2035	.	348	Q86Y25	Z354C_HUMAN	I	348	ENSP00000324064:R348I	ENSP00000324064:R348I	R	+	2	0	ZNF354C	178439082	0.000000	0.05858	0.969000	0.41365	0.992000	0.81027	0.098000	0.15189	1.033000	0.39918	0.591000	0.81541	AGA	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506476	1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	0.963	T	T	178506476	G	T	178506476	3	4	131	1	0	0	0	0	1	0	0	0	17896	942	33	3	1057	3	ZNF354C	5	178506476	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	90146	178506476	2408784	695	20835										
ADAMTS2	9509	genome.wustl.edu	37	chr5	178540923	178540923	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcaatgagctcttggattCtttggtttctggtcttttca	8	8	6	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178540923C>A	ENST00000251582.7	-	22	3682	c.3581G>T	c.(3580-3582)aGa>aTa	p.R1194I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1194					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCTTGGATTCTTTGGTTTCT	0.438																																																	0													164	165	165					5																	178540923		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3581G>T	5.37:g.178540923C>A	ENSP00000251582:p.Arg1194Ile			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1194I	ENST00000251582.7	37	c.3581	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656634	0.88154	.	.	ENSG00000087116	ENST00000251582	T	0.66638	-0.22	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000022	T	0.74997	0.3790	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.78125	-0.2326	10	0.87932	D	0	.	17.7749	0.88504	0.0:1.0:0.0:0.0	.	1194	O95450	ATS2_HUMAN	I	1194	ENSP00000251582:R1194I	ENSP00000251582:R1194I	R	-	2	0	ADAMTS2	178473529	1.000000	0.71417	0.843000	0.33291	0.979000	0.70002	6.237000	0.72345	2.417000	0.82017	0.561000	0.74099	AGA	ADAMTS2	-	NULL		0.438	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	C	NM_014244		178540923	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	0.983	A	A	178540923	C	A	178540923	3	1	131	1	0	0	0	0	1	0	0	0	265	913	32	3	58	3	ADAMTS2	5	178540923	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	34447	178540923	2374337	696	20836										
CANX	821	genome.wustl.edu	37	chr5	179134136	179134136	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatttgttatttacaggtgGattttatccaaagccaagaa	9	5	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:179134136G>A	ENST00000247461.4	+	4	449	c.249G>A	c.(247-249)tgG>tgA	p.W83*	CANX_ENST00000452673.2_Nonsense_Mutation_p.W83*|CANX_ENST00000415618.2_Nonsense_Mutation_p.W118*|CANX_ENST00000512607.2_Intron|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Nonsense_Mutation_p.W83*	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	83					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TTTACAGGTGGATTTTATCCA	0.343																																																	0													132	134	133					5																	179134136		2203	4300	6503	SO:0001587	stop_gained	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.249G>A	5.37:g.179134136G>A	ENSP00000247461:p.Trp83*		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Nonsense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.W118*	ENST00000247461.4	37	c.354	CCDS4447.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.933147|5.933147	0.97116|0.97116	.|.	.|.	ENSG00000127022|ENSG00000127022	ENST00000510810|ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000513246;ENST00000354394	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47820|.	0.1466|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37596|.	-0.9699|.	4|.	.|0.02654	.|T	.|1	-7.8154|-7.8154	19.665|19.665	0.95890|0.95890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	52|83;83;83;118;83;83;83;83;75	.|.	.|ENSP00000247461:W83X	G|W	+|+	2|3	0|0	CANX|CANX	179066742|179066742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.843000|9.843000	0.99491|0.99491	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GGA|TGG	CANX	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf		0.343	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649		179134136	1	no_errors	ENST00000415618	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	179134136	G	A	179134136	4	1	131	1	0	0	0	0	0	1	0	0	2623	1183	41	1	259	1	CANX	5	179134136	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	593213	179134136	1781124	697	20837										
TBC1D9B	23061	genome.wustl.edu	37	chr5	179315238	179315238	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggttggcaaacaggaatgtCattttgcttttggtgctgat	12	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:179315238C>A	ENST00000356834.3	-	7	1156	c.1119G>T	c.(1117-1119)atG>atT	p.M373I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.M373I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	373						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGAATGTCATTTTGCTTT	0.507																																																	0													132	128	130					5																	179315238		2203	4300	6503	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1119G>T	5.37:g.179315238C>A	ENSP00000349291:p.Met373Ile		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.M373I	ENST00000356834.3	37	c.1119	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390304	0.62066	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.09817	2.94;3.03	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	M	0.82630	2.6	0.80722	D	1	B;B;B	0.30281	0.275;0.234;0.151	B;B;B	0.31245	0.118;0.126;0.118	T	0.03706	-1.1011	10	0.34782	T	0.22	-39.3104	18.1169	0.89559	0.0:1.0:0.0:0.0	.	373;373;373	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	373	ENSP00000349291:M373I;ENSP00000347375:M373I	ENSP00000347375:M373I	M	-	3	0	TBC1D9B	179247844	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.755000	0.68750	2.511000	0.84671	0.491000	0.48974	ATG	TBC1D9B	-	NULL		0.507	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	C	NM_015043		179315238	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179315238	C	A	179315238	3	1	131	1	0	0	0	0	1	0	0	0	15658	826	29	3	2697	3	TBC1D9B	5	179315238	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	181102	179315238	1600022	698	20838										
CNOT6	57472	genome.wustl.edu	37	chr5	179996326	179996326	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttatgtgcagatcttaattCtttgccagactctggtaaga	9	7	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:179996326C>A	ENST00000393356.1	+	12	1668	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	CNOT6_ENST00000261951.4_Missense_Mutation_p.S415Y			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	415	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GATCTTAATTCTTTGCCAGAC	0.318																																																	0													98	99	99					5																	179996326		2203	4300	6503	SO:0001583	missense	57472			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1244C>A	5.37:g.179996326C>A	ENSP00000377024:p.Ser415Tyr		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.S415Y	ENST00000393356.1	37	c.1244	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693713	0.88735	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.80909	-1.43;-1.43	5.49	5.49	0.81192	Endonuclease/exonuclease/phosphatase (2);	0.102169	0.64402	D	0.000001	D	0.92993	0.7770	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94557	0.7759	9	.	.	.	-12.983	19.3922	0.94587	0.0:1.0:0.0:0.0	.	415	Q9ULM6	CNOT6_HUMAN	Y	415	ENSP00000261951:S415Y;ENSP00000377024:S415Y	.	S	+	2	0	CNOT6	179928932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.566000	0.86566	0.563000	0.77884	TCT	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.318	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	C	NM_015455		179996326	1	no_errors	ENST00000261951	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179996326	C	A	179996326	3	1	131	1	0	0	0	0	1	0	0	0	3627	913	32	3	1278	3	CNOT6	5	179996326	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	681088	179996326	918934	699	20839										
FLT4	2324	genome.wustl.edu	37	chr5	180056320	180056320	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgttgttggccttgcacacAtacgagcccaggtcgtgctg	12	13	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180056320A>C	ENST00000261937.6	-	7	1002	c.924T>G	c.(922-924)taT>taG	p.Y308*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.Y308*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.Y308*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	308	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCACACATACGAGCCCA	0.612																																					Colon(97;1075 1466 27033 27547 35871)												0													182	155	164					5																	180056320		2203	4299	6502	SO:0001587	stop_gained	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.924T>G	5.37:g.180056320A>C	ENSP00000261937:p.Tyr308*		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.Y308*	ENST00000261937.6	37	c.924	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640279	0.67244	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	-8.9	0.00782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7472	0.85475	0.6417:0.0:0.3583:0.0	.	.	.	.	X	308;308;308;118	.	ENSP00000261937:Y308X	Y	-	3	2	FLT4	179988926	0.000000	0.05858	0.003000	0.11579	0.417000	0.31264	-0.650000	0.05378	-1.913000	0.01079	-1.044000	0.02363	TAT	FLT4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	A			180056320	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	nonsense	SNP	0.044	C	C	180056320	A	C	180056320	4	2	131	1	0	0	0	0	0	1	0	0	5962	224	8	5	3271	5	FLT4	5	180056320	Nonsense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	59994	180056320	858940	700	20840										
TRIM7	81786	genome.wustl.edu	37	chr5	180622600	180622600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggcaggtcctgggcccgctCgccgaggcgcacgcccttaa	15	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180622600C>T	ENST00000274773.7	-	7	1163	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393315.1_Missense_Mutation_p.E160K|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.E160K|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E186K|TRIM7_ENST00000361809.3_Missense_Mutation_p.E160K|CTC-338M12.6_ENST00000512508.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	368	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													37	41	40					5																	180622600		2195	4258	6453	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1102G>A	5.37:g.180622600C>T	ENSP00000274773:p.Glu368Lys		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E368K	ENST00000274773.7	37	c.1102	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598214	0.28445	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	4.57	3.7	0.42460	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.048130	0.07540	N	0.913621	T	0.13670	0.0331	L	0.43923	1.385	0.21416	N	0.999695	B;B	0.21688	0.059;0.011	B;B	0.19391	0.025;0.0	T	0.39921	-0.9590	10	0.11182	T	0.66	.	12.1951	0.54292	0.0:0.1827:0.8173:0.0	.	368;186	Q9C029;Q9C029-4	TRIM7_HUMAN;.	K	368;160;160;186;160	ENSP00000274773:E368K;ENSP00000376991:E160K;ENSP00000355059:E160K;ENSP00000376994:E186K;ENSP00000391458:E160K	ENSP00000274773:E368K	E	-	1	0	TRIM7	180555206	0.000000	0.05858	0.601000	0.28877	0.207000	0.24258	-0.111000	0.10807	0.904000	0.36572	-0.333000	0.08304	GAG	TRIM7	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.667	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	C	NM_203296		180622600	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	0.820	T	T	180622600	C	T	180622600	3	4	131	1	0	0	0	0	1	0	0	0	16574	893	31	1	437	1	TRIM7	5	180622600	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	566280	180622600	292660	701	20841										
TRIM41	90933	genome.wustl.edu	37	chr5	180660643	180660643	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccccttcctccaggtgtgaaGaggtacagctgcagccccca	10	16	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180660643G>A	ENST00000315073.5	+	5	1881	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E391K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	391					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTGTGAAGAGGTACAGCT	0.597																																																	0													64	67	66					5																	180660643		2203	4300	6503	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1171G>A	5.37:g.180660643G>A	ENSP00000320869:p.Glu391Lys		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E391K	ENST00000315073.5	37	c.1171	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	G	4.375	0.069153	0.08436	.	.	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073	T;T;T	0.53857	3.59;1.07;0.6	4.9	4.9	0.64082	.	0.230484	0.30410	N	0.009696	T	0.20373	0.0490	N	0.01352	-0.895	0.31738	N	0.63615	B;P	0.40476	0.003;0.718	B;B	0.35353	0.001;0.201	T	0.17684	-1.0361	10	0.09084	T	0.74	.	13.4255	0.61022	0.0:0.0:1.0:0.0	.	391;391	Q8WV44;Q8WV44-2	TRI41_HUMAN;.	K	101;391;391	ENSP00000426803:E101K;ENSP00000336749:E391K;ENSP00000320869:E391K	ENSP00000320869:E391K	E	+	1	0	TRIM41	180593249	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	1.296000	0.33389	2.533000	0.85409	0.655000	0.94253	GAG	TRIM41	-	pfam_DUF3631		0.597	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	G	NM_201627		180660643	1	no_errors	ENST00000315073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	180660643	G	A	180660643	3	1	131	1	0	0	0	0	1	0	0	0	16547	943	33	1	1189	1	TRIM41	5	180660643	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	38043	180660643	254617	702	20842										
FOXQ1	94234	genome.wustl.edu	37	chr6	1313312	1313312	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagcccccctactcgtacAtcgcgctcatcgccatggcc	7	20	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:1313312A>C	ENST00000296839.2	+	1	638	c.373A>C	c.(373-375)Atc>Ctc	p.I125L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	125					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CTACTCGTACATCGCGCTCAT	0.721																																																	0													22	26	25					6																	1313312		2180	4257	6437	SO:0001583	missense	94234			AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.373A>C	6.37:g.1313312A>C	ENSP00000296839:p.Ile125Leu		Q9NS06	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I125L	ENST00000296839.2	37	c.373	CCDS4471.1	6	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609512	0.87258	.	.	ENSG00000164379	ENST00000296839	D	0.95342	-3.68	3.87	2.59	0.31030	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.94105	0.8110	M	0.71296	2.17	0.45318	D	0.998313	P	0.39883	0.693	P	0.54815	0.761	D	0.94155	0.7409	10	0.87932	D	0	.	8.0141	0.30370	0.8177:0.0:0.0:0.1823	.	125	Q9C009	FOXQ1_HUMAN	L	125	ENSP00000296839:I125L	ENSP00000296839:I125L	I	+	1	0	FOXQ1	1258312	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.489000	0.66875	1.418000	0.47098	0.155000	0.16302	ATC	FOXQ1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.721	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXQ1	HGNC	protein_coding	OTTHUMT00000043410.1	A	NM_033260		1313312	1	no_errors	ENST00000296839	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1313312	A	C	1313312	3	2	131	1	0	0	0	0	1	0	0	0	6048	217	8	5	375	5	FOXQ1	6	1313312	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09		1313312	169801755	703	20843										
C6orf201	404220	genome.wustl.edu	37	chr6	4087923	4087923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgaatcacctgatggagacGctttattcccgcaagagtga	10	11	1	4	rs374921182		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:4087923G>A	ENST00000380175.4	+	2	813	c.48G>A	c.(46-48)acG>acA	p.T16T	C6orf201_ENST00000430835.2_Silent_p.T16T|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000360378.6_3'UTR|FAM217A_ENST00000380188.2_5'Flank	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	16										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TGATGGAGACGCTTTATTCCC	0.478																																																	0								G		1,3843		0,1,1921	193	206	202		48	0.3	0	6		202	1,8291		0,1,4145	no	coding-synonymous	C6orf201	NM_001085401.1		0,2,6066	AA,AG,GG		0.0121,0.026,0.0165		16/141	4087923	2,12134	1922	4146	6068	SO:0001819	synonymous_variant	404220			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.48G>A	6.37:g.4087923G>A			A6NLI6|Q6NXN5	Silent	SNP	NULL	p.T16	ENST00000380175.4	37	c.48	CCDS43419.1	6																																																																																			C6orf201	-	NULL		0.478	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	G	NM_001085401		4087923	1	no_errors	ENST00000380175	ensembl	human	known	70_37	silent	SNP	0.001	A	A	4087923	G	A	4087923	2	1	131	1	0	0	0	0	0	0	0	1	2356	1074	38	2		2	C6orf201	6	4087923	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2774611	4087923	167027144	704	20844										
F13A1	2162	genome.wustl.edu	37	chr6	6174837	6174837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagggctccagcgtcacgtCgaacgtctccttcttgaatt	9	13	3	1	rs201444282		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:6174837C>T	ENST00000264870.3	-	12	1988	c.1723G>A	c.(1723-1725)Gac>Aac	p.D575N		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	575					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGCGTCACGTCGAACGTCTCC	0.517																																																	0													262	231	241					6																	6174837		2203	4300	6503	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1723G>A	6.37:g.6174837C>T	ENSP00000264870:p.Asp575Asn		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.D575N	ENST00000264870.3	37	c.1723	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	4.419	0.077566	0.08485	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.74209	-0.82	5.78	-0.318	0.12728	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.042200	0.07461	N	0.900584	T	0.26702	0.0653	N	0.03154	-0.405	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.19128	-1.0315	10	0.17369	T	0.5	.	11.1866	0.48660	0.0:0.4942:0.0:0.5058	.	512;575	F5H080;P00488	.;F13A_HUMAN	N	575;512	ENSP00000264870:D575N	ENSP00000264870:D575N	D	-	1	0	F13A1	6119836	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.593000	0.05740	-0.125000	0.11703	-1.246000	0.01523	GAC	F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.517	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	C	NM_000129		6174837	-1	no_errors	ENST00000264870	ensembl	human	known	70_37	missense	SNP	0.000	T	T	6174837	C	T	6174837	3	4	131	1	0	0	0	0	1	0	0	0	5352	884	31	1	491	1	F13A1	6	6174837	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2086914	6174837	164940230	705	20845										
GCM2	9247	genome.wustl.edu	37	chr6	10874955	10874955	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtggcctaggcaaatagattCttgggcttgagtatttctgg	13	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:10874955C>A	ENST00000379491.4	-	5	941	c.794G>T	c.(793-795)aGa>aTa	p.R265I	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	265					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CAAATAGATTCTTGGGCTTGA	0.453																																																	0													173	168	170					6																	10874955		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.794G>T	6.37:g.10874955C>A	ENSP00000368805:p.Arg265Ile		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R265I	ENST00000379491.4	37	c.794	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490628	0.64074	.	.	ENSG00000124827	ENST00000379491	T	0.72051	-0.62	5.5	4.64	0.57946	.	0.172925	0.64402	D	0.000015	T	0.63390	0.2507	M	0.76170	2.325	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.70960	-0.4730	10	0.72032	D	0.01	-7.5825	11.6737	0.51417	0.0:0.8574:0.0:0.1426	.	265	O75603	GCM2_HUMAN	I	265	ENSP00000368805:R265I	ENSP00000368805:R265I	R	-	2	0	GCM2	10982941	0.952000	0.32445	0.999000	0.59377	0.667000	0.39255	2.240000	0.43088	1.465000	0.48006	-0.142000	0.14014	AGA	GCM2	-	NULL		0.453	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	C			10874955	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	0.998	A	A	10874955	C	A	10874955	3	1	131	1	0	0	0	0	1	0	0	0	6317	913	32	3	730	3	GCM2	6	10874955	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4700118	10874955	160240112	706	20846										
HIVEP1	3096	genome.wustl.edu	37	chr6	12015869	12015869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagtcaaagaagatgcctcGaactaaacaaattcatccca	6	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:12015869G>A	ENST00000379388.2	+	2	340	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	HIVEP1_ENST00000484210.1_Missense_Mutation_p.R3Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R3Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGATGCCTCGAACTAAACAA	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											124	120	121					6																	12015869		1828	4088	5916	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8G>A	6.37:g.12015869G>A	ENSP00000368698:p.Arg3Gln		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R3Q	ENST00000379388.2	37	c.8	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869938	0.72065	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545;ENST00000484210	T	0.14391	2.51	5.42	5.42	0.78866	.	.	.	.	.	T	0.21590	0.0520	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00909	-1.1518	9	0.87932	D	0	-2.4865	16.7144	0.85394	0.0:0.0:1.0:0.0	.	3	P15822	ZEP1_HUMAN	Q	3	ENSP00000368698:R3Q	ENSP00000368698:R3Q	R	+	2	0	HIVEP1	12123855	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.945000	0.70226	2.537000	0.85549	0.655000	0.94253	CGA	HIVEP1	-	NULL		0.368	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12015869	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12015869	G	A	12015869	3	1	131	1	0	0	0	0	1	0	0	0	7206	1058	37	1	10	1	HIVEP1	6	12015869	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1140914	12015869	159099198	707	20847										
HIVEP1	3096	genome.wustl.edu	37	chr6	12120152	12120152	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggctggtgttaaaggaactTcggaatcccttaaaggtgtg	13	6	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:12120152T>G	ENST00000379388.2	+	4	456	c.124T>G	c.(124-126)Tcg>Gcg	p.S42A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	42					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TAAAGGAACTTCGGAATCCCT	0.353																																																	0													152	139	143					6																	12120152		1853	4083	5936	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.124T>G	6.37:g.12120152T>G	ENSP00000368698:p.Ser42Ala		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S42A	ENST00000379388.2	37	c.124	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	T	12.04	1.817189	0.32145	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000442081;ENST00000478545	T	0.08458	3.09	5.79	3.28	0.37604	.	0.000000	0.31760	N	0.007106	T	0.02380	0.0073	L	0.48362	1.52	0.80722	D	1	B	0.22346	0.068	B	0.13407	0.009	T	0.34354	-0.9832	10	0.21540	T	0.41	-10.6081	4.2263	0.10582	0.1845:0.1359:0.0:0.6796	.	42	P15822	ZEP1_HUMAN	A	42;42;42;51;42	ENSP00000368698:S42A	ENSP00000368698:S42A	S	+	1	0	HIVEP1	12228138	0.140000	0.22579	1.000000	0.80357	0.995000	0.86356	1.085000	0.30840	2.207000	0.71202	0.533000	0.62120	TCG	HIVEP1	-	NULL		0.353	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	T	NM_002114		12120152	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.875	G	G	12120152	T	G	12120152	3	3	131	1	0	0	0	0	1	0	0	0	7206	1783	62	5	134	5	HIVEP1	6	12120152	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	104283	12120152	158994915	708	20848										
SIRT5	23408	genome.wustl.edu	37	chr6	13601168	13601168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacggagaccaccccagctAcgaacagattcaggtactgg	10	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:13601168A>G	ENST00000606117.1	+	9	1140	c.844A>G	c.(844-846)Acg>Gcg	p.T282A	SIRT5_ENST00000397350.2_Missense_Mutation_p.T174A|SIRT5_ENST00000359782.3_Missense_Mutation_p.T264A|SIRT5_ENST00000379262.4_Missense_Mutation_p.T282A	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACCCCAGCTACGAACAGATT	0.552																																																	0													66	56	59					6																	13601168		2203	4300	6503	SO:0001583	missense	23408			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.844A>G	6.37:g.13601168A>G	ENSP00000476228:p.Thr282Ala			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.T282A	ENST00000606117.1	37	c.844	CCDS4526.1	6	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921709	0.73213	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.07	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.52759	1.655	0.80722	D	1	D;P;D	0.59767	0.972;0.953;0.986	P;P;D	0.66716	0.904;0.804;0.946	T	0.30416	-0.9979	10	0.39692	T	0.17	-23.5984	11.1136	0.48247	0.9265:0.0:0.0735:0.0	.	264;282;282	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	A	264;282;174;282	ENSP00000352830:T264A;ENSP00000368564:T282A;ENSP00000380509:T174A;ENSP00000368552:T282A	ENSP00000352830:T264A	T	+	1	0	SIRT5	13709147	1.000000	0.71417	0.975000	0.42487	0.923000	0.55619	6.737000	0.74816	0.871000	0.35750	0.482000	0.46254	ACG	SIRT5	-	pfscan_Ssirtuin_cat_dom		0.552	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT5	HGNC	protein_coding	OTTHUMT00000039908.2	A			13601168	1	no_errors	ENST00000379250	ensembl	human	known	70_37	missense	SNP	0.998	G	G	13601168	A	G	13601168	3	3	131	1	0	0	0	0	1	0	0	0	14371	391	14	5	870	5	SIRT5	6	13601168	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1481016	13601168	157513899	709	20849										
JARID2	3720	genome.wustl.edu	37	chr6	15511553	15511553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattcctgctgaggaggagaAcaagctggaagatgtggtcc	14	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:15511553A>G	ENST00000341776.2	+	13	3117	c.2873A>G	c.(2872-2874)aAc>aGc	p.N958S	JARID2_ENST00000397311.3_Missense_Mutation_p.N786S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	958	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGGAGGAGAACAAGCTGGAA	0.577																																																	0													126	109	114					6																	15511553		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2873A>G	6.37:g.15511553A>G	ENSP00000341280:p.Asn958Ser		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.N958S	ENST00000341776.2	37	c.2873	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	A	5.549	0.286215	0.10513	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.70045	-0.45;-0.45	5.09	-1.95	0.07548	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.515343	0.24361	N	0.039196	T	0.11281	0.0275	N	0.02539	-0.55	0.31313	N	0.686939	B	0.02656	0.0	B	0.04013	0.001	T	0.17837	-1.0356	10	0.09084	T	0.74	-3.6707	6.3244	0.21234	0.519:0.1298:0.3513:0.0	.	958	Q92833	JARD2_HUMAN	S	958;786	ENSP00000341280:N958S;ENSP00000380478:N786S	ENSP00000341280:N958S	N	+	2	0	JARID2	15619532	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	1.256000	0.32921	-0.507000	0.06549	-0.297000	0.09499	AAC	JARID2	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.577	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	A	NM_004973		15511553	1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	0.983	G	G	15511553	A	G	15511553	3	3	131	1	0	0	0	0	1	0	0	0	7965	43	2	5	2923	5	JARID2	6	15511553	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1910385	15511553	155603514	710	20850										
JARID2	3720	genome.wustl.edu	37	chr6	15517424	15517424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacgaaaacgtcgtgttctgTctggagtgtgctctgcgcca	12	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:15517424T>C	ENST00000341776.2	+	17	3727	c.3483T>C	c.(3481-3483)tgT>tgC	p.C1161C	JARID2_ENST00000397311.3_Silent_p.C989C	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1161					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCGTGTTCTGTCTGGAGTGTG	0.597																																																	0													179	143	155					6																	15517424		2203	4300	6503	SO:0001819	synonymous_variant	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3483T>C	6.37:g.15517424T>C			A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.C1161	ENST00000341776.2	37	c.3483	CCDS4533.1	6																																																																																			JARID2	-	pfam_Znf_C5HC2		0.597	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	T	NM_004973		15517424	1	no_errors	ENST00000341776	ensembl	human	known	70_37	silent	SNP	1.000	C	C	15517424	T	C	15517424	2	2	131	1	0	0	0	0	0	0	0	1	7965	1673	58	5		5	JARID2	6	15517424	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5871	15517424	155597643	711	20851										
GMNN	51053	genome.wustl.edu	37	chr6	24777516	24777516	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaacaagaagaaatcaaagaGaatataaaggtatgtgattg	9	2	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:24777516G>T	ENST00000230056.3	+	2	374	c.42G>T	c.(40-42)gaG>gaT	p.E14D	GMNN_ENST00000356509.3_Missense_Mutation_p.E14D	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	14					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AAATCAAAGAGAATATAAAGG	0.313																																																	0													46	45	45					6																	24777516		2199	4294	6493	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.42G>T	6.37:g.24777516G>T	ENSP00000230056:p.Glu14Asp		B3KMM8|Q9H1Z1	Missense_Mutation	SNP	pfam_Geminin_fam	p.E14D	ENST00000230056.3	37	c.42	CCDS4560.1	6	.	.	.	.	.	.	.	.	.	.	G	6.470	0.454840	0.12283	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.16	1.32	0.21799	.	0.440966	0.26133	N	0.026144	T	0.04092	0.0114	L	0.37630	1.12	0.23492	N	0.997569	P	0.35468	0.503	B	0.34652	0.187	T	0.37776	-0.9691	10	0.30854	T	0.27	-3.0637	7.6607	0.28402	0.3751:0.0:0.6249:0.0	.	14	O75496	GEMI_HUMAN	D	14	ENSP00000348902:E14D;ENSP00000230056:E14D;ENSP00000367293:E14D;ENSP00000419584:E14D;ENSP00000367298:E14D	ENSP00000230056:E14D	E	+	3	2	GMNN	24885495	0.554000	0.26522	0.692000	0.30179	0.051000	0.14879	0.295000	0.19065	0.277000	0.22141	-0.218000	0.12543	GAG	GMNN	-	pfam_Geminin_fam		0.313	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	G	NM_015895		24777516	1	no_errors	ENST00000230056	ensembl	human	known	70_37	missense	SNP	0.474	T	T	24777516	G	T	24777516	3	4	131	1	0	0	0	0	1	0	0	0	6512	933	33	3	44	3	GMNN	6	24777516	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	9260092	24777516	146337551	712	20852										
SLC17A4	10050	genome.wustl.edu	37	chr6	25770363	25770363	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccctcaactatggctcattCttggctccaatccccagtgg	7	15	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25770363C>T	ENST00000377905.4	+	4	485	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	122					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGCTCATTCTTGGCTCCAA	0.473																																																	0													180	175	176					6																	25770363		2203	4300	6503	SO:0001819	synonymous_variant	10050			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.366C>T	6.37:g.25770363C>T			B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F122	ENST00000377905.4	37	c.366	CCDS4564.1	6																																																																																			SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.473	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	C			25770363	1	no_errors	ENST00000377905	ensembl	human	known	70_37	silent	SNP	0.006	T	T	25770363	C	T	25770363	2	4	131	1	0	0	0	0	0	0	0	1	14449	912	32	1		1	SLC17A4	6	25770363	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	992847	25770363	145344704	713	20853										
SLC17A3	10786	genome.wustl.edu	37	chr6	25868604	25868604	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgtgggactcaactctgtCttggtggccattgtgtttct	12	9	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25868604C>A	ENST00000360657.3	-	2	297	c.12G>T	c.(10-12)aaG>aaT	p.K4N	SLC17A3_ENST00000361703.6_Missense_Mutation_p.K4N|SLC17A3_ENST00000397060.4_Missense_Mutation_p.K4N			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	4					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TCAACTCTGTCTTGGTGGCCA	0.463																																																	0													258	223	235					6																	25868604		2203	4300	6503	SO:0001583	missense	10786			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.12G>T	6.37:g.25868604C>A	ENSP00000353873:p.Lys4Asn		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K4N	ENST00000360657.3	37	c.12	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	C	9.011	0.982533	0.18889	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64438	-0.1;0.08;0.08	3.47	0.627	0.17675	.	0.994857	0.08136	N	0.992292	T	0.22166	0.0534	N	0.22421	0.69	0.09310	N	1	B;B;B	0.27068	0.072;0.167;0.072	B;B;B	0.23275	0.021;0.045;0.021	T	0.17653	-1.0362	10	0.34782	T	0.22	.	5.9375	0.19173	0.0:0.6493:0.0:0.3507	.	4;4;4	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	N	4	ENSP00000380250:K4N;ENSP00000353873:K4N;ENSP00000355307:K4N	ENSP00000353873:K4N	K	-	3	2	SLC17A3	25976583	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.807000	0.04520	0.101000	0.17610	0.650000	0.86243	AAG	SLC17A3	-	superfamily_MFS_dom_general_subst_transpt		0.463	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2	C			25868604	-1	no_errors	ENST00000397060	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25868604	C	A	25868604	3	1	131	1	0	0	0	0	1	0	0	0	14448	912	32	3	1528	3	SLC17A3	6	25868604	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	98241	25868604	145246463	714	20854										
SLC17A2	10246	genome.wustl.edu	37	chr6	25917219	25917219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttgagccagtgaggacaggAtgtgctccttttccctaaca	11	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25917219A>G	ENST00000265425.3	-	6	766	c.746T>C	c.(745-747)aTc>aCc	p.I249T	SLC17A2_ENST00000360488.3_Missense_Mutation_p.I249T|SLC17A2_ENST00000377850.3_Missense_Mutation_p.I249T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	249					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGGACAGGATGTGCTCCTT	0.537																																																	0													135	109	118					6																	25917219		2203	4300	6503	SO:0001583	missense	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.746T>C	6.37:g.25917219A>G	ENSP00000265425:p.Ile249Thr		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I249T	ENST00000265425.3	37	c.746		6	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292915	0.60086	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.60424	0.19;0.19;0.19	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000024	T	0.79879	0.4522	H	0.97611	4.04	0.45172	D	0.998184	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.85601	0.1252	10	0.87932	D	0	.	10.6641	0.45719	1.0:0.0:0.0:0.0	.	249;249;249	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	T	249	ENSP00000353677:I249T;ENSP00000367081:I249T;ENSP00000265425:I249T	ENSP00000265425:I249T	I	-	2	0	SLC17A2	26025198	1.000000	0.71417	0.473000	0.27253	0.615000	0.37417	6.139000	0.71728	2.067000	0.61834	0.460000	0.39030	ATC	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.537	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	A			25917219	-1	no_errors	ENST00000377850	ensembl	human	known	70_37	missense	SNP	0.986	G	G	25917219	A	G	25917219	3	3	131	1	0	0	0	0	1	0	0	0	14447	333	12	5	584	5	SLC17A2	6	25917219	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	48615	25917219	145197848	715	20855										
HFE	3077	genome.wustl.edu	37	chr6	26091204	26091204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtcgccgtgtggagccccGaactccatgggtttccagta	13	12	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:26091204G>A	ENST00000357618.5	+	2	334	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	HFE_ENST00000336625.8_Missense_Mutation_p.R71Q|HFE_ENST00000488199.1_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R71Q|HFE_ENST00000397022.3_Missense_Mutation_p.R48Q|HFE_ENST00000317896.7_Missense_Mutation_p.R71Q|HFE_ENST00000309234.6_Missense_Mutation_p.R71Q|HFE_ENST00000470149.1_Missense_Mutation_p.R71Q|HFE_ENST00000353147.5_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.R71Q(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGAGCCCCGAACTCCATGG	0.507									Hemochromatosis																																								1	Substitution - Missense(1)	large_intestine(1)											103	100	101					6																	26091204		2203	4300	6503	SO:0001583	missense	3077	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.212G>A	6.37:g.26091204G>A	ENSP00000417404:p.Arg71Gln		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.R71Q	ENST00000357618.5	37	c.212	CCDS4578.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978645	0.74360	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	D;T;D;D;T;D;D	0.90324	-2.65;5.61;-2.65;-2.65;5.61;-2.65;-2.65	5.3	2.57	0.30868	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.427116	0.19838	N	0.104922	D	0.89230	0.6656	M	0.86097	2.795	0.09310	N	1	D;P;P;D;D;D	0.67145	0.996;0.795;0.795;0.995;0.985;0.996	P;B;B;P;B;P	0.52823	0.71;0.117;0.117;0.587;0.319;0.71	T	0.83330	-0.0013	10	0.87932	D	0	.	7.258	0.26187	0.271:0.0:0.729:0.0	.	71;71;71;71;48;71	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	Q	48;71;71;71;71;71;71;71	ENSP00000380217:R48Q;ENSP00000313776:R71Q;ENSP00000417404:R71Q;ENSP00000419725:R71Q;ENSP00000337819:R71Q;ENSP00000420802:R71Q;ENSP00000311698:R71Q	ENSP00000311698:R71Q	R	+	2	0	HFE	26199183	0.072000	0.21174	0.001000	0.08648	0.297000	0.27493	2.992000	0.49417	0.383000	0.24910	0.655000	0.94253	CGA	HFE	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.507	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HFE	HGNC	protein_coding	OTTHUMT00000356133.1	G			26091204	1	no_errors	ENST00000357618	ensembl	human	known	70_37	missense	SNP	0.001	A	A	26091204	G	A	26091204	3	1	131	1	0	0	0	0	1	0	0	0	7101	1058	37	1	218	1	HFE	6	26091204	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	173985	26091204	145023863	716	20856										
ZNF391	346157	genome.wustl.edu	37	chr6	27369123	27369123	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcccttattattcatcagaGaactcataccggggagaagc	8	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:27369123G>T	ENST00000244576.4	+	3	1519	c.974G>T	c.(973-975)aGa>aTa	p.R325I	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R325I(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATTCATCAGAGAACTCATACC	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											65	68	67					6																	27369123		2030	4233	6263	SO:0001583	missense	346157			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.974G>T	6.37:g.27369123G>T	ENSP00000244576:p.Arg325Ile		B4DH77	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R325I	ENST00000244576.4	37	c.974	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947983	0.53186	.	.	ENSG00000124613	ENST00000244576	T	0.24908	1.83	3.91	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27313	0.0670	L	0.60957	1.885	0.41659	D	0.989175	D	0.61697	0.99	D	0.66602	0.945	T	0.05616	-1.0874	9	0.66056	D	0.02	.	6.7838	0.23662	0.2387:0.0:0.7613:0.0	.	325	Q9UJN7	ZN391_HUMAN	I	325	ENSP00000244576:R325I	ENSP00000244576:R325I	R	+	2	0	ZNF391	27477102	0.003000	0.15002	0.996000	0.52242	0.505000	0.33919	0.500000	0.22562	0.610000	0.30035	0.557000	0.71058	AGA	ZNF391	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	HGNC	protein_coding	OTTHUMT00000040145.2	G	NM_001076781		27369123	1	no_errors	ENST00000244576	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27369123	G	T	27369123	3	4	131	1	0	0	0	0	1	0	0	0	17909	942	33	3	976	3	ZNF391	6	27369123	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1277919	27369123	143745944	717	20857										
NKAPL	222698	genome.wustl.edu	37	chr6	28228147	28228147	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacaagtgaagagatcggttCttttgaatgctcaggttatg	12	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:28228147C>A	ENST00000343684.3	+	1	1050	c.998C>A	c.(997-999)tCt>tAt	p.S333Y	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	333										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGATCGGTTCTTTTGAATGC	0.483																																																	0													187	183	184					6																	28228147		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.998C>A	6.37:g.28228147C>A	ENSP00000345716:p.Ser333Tyr		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.S333Y	ENST00000343684.3	37	c.998	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386671	0.61956	.	.	ENSG00000189134	ENST00000343684	T	0.15952	2.38	4.74	4.74	0.60224	.	0.434208	0.24996	N	0.033941	T	0.29061	0.0722	L	0.53249	1.67	0.43808	D	0.996368	D	0.71674	0.998	D	0.79784	0.993	T	0.01452	-1.1351	10	0.87932	D	0	-3.3071	15.6397	0.76989	0.0:1.0:0.0:0.0	.	333	Q5M9Q1	NKAPL_HUMAN	Y	333	ENSP00000345716:S333Y	ENSP00000345716:S333Y	S	+	2	0	NKAPL	28336126	0.968000	0.33430	0.970000	0.41538	0.766000	0.43426	6.004000	0.70709	2.635000	0.89317	0.655000	0.94253	TCT	NKAPL	-	pfam_DUF926		0.483	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	C			28228147	1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	0.949	A	A	28228147	C	A	28228147	3	1	131	1	0	0	0	0	1	0	0	0	10464	913	32	3	1000	3	NKAPL	6	28228147	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	859024	28228147	142886920	718	20858										
PGBD1	84547	genome.wustl.edu	37	chr6	28269225	28269225	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcataaaacaaatgaataaaAatttcctcttgtatgctccc	3	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:28269225A>C	ENST00000405948.2	+	7	2014	c.1594A>C	c.(1594-1596)Aat>Cat	p.N532H	PGBD1_ENST00000259883.3_Missense_Mutation_p.N532H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	532						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATGAATAAAAATTTCCTCTT	0.348																																																	0													79	86	83					6																	28269225		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1594A>C	6.37:g.28269225A>C	ENSP00000385213:p.Asn532His		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.N532H	ENST00000405948.2	37	c.1594	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106494	0.56291	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.19250	2.16;2.16	4.66	4.66	0.58398	.	0.233074	0.29876	N	0.010974	T	0.29256	0.0728	M	0.61703	1.905	0.32531	N	0.534894	D	0.65815	0.995	D	0.75484	0.986	T	0.08597	-1.0714	10	0.52906	T	0.07	-17.832	10.6791	0.45804	1.0:0.0:0.0:0.0	.	532	Q96JS3	PGBD1_HUMAN	H	532	ENSP00000385213:N532H;ENSP00000259883:N532H	ENSP00000259883:N532H	N	+	1	0	PGBD1	28377204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.490000	0.45294	2.087000	0.62958	0.533000	0.62120	AAT	PGBD1	-	NULL		0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	A			28269225	1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28269225	A	C	28269225	3	2	131	1	0	0	0	0	1	0	0	0	11804	14	1	5	1616	5	PGBD1	6	28269225	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	41078	28269225	142845842	719	20859										
GABBR1	2550	genome.wustl.edu	37	chr6	29589055	29589055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgtacttcttcccaaagagAcgctccttgtacacctgaat	6	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:29589055A>G	ENST00000377034.4	-	11	1481	c.1146T>C	c.(1144-1146)cgT>cgC	p.R382R	GABBR1_ENST00000377012.4_Silent_p.R265R|GABBR1_ENST00000377016.4_Silent_p.R320R|GABBR1_ENST00000355973.3_Silent_p.R265R|GABBR1_ENST00000376977.3_Silent_p.R382R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	382					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCCCAAAGAGACGCTCCTTGT	0.423																																																	0													118	96	104					6																	29589055		1511	2709	4220	SO:0001819	synonymous_variant	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1146T>C	6.37:g.29589055A>G			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.R382	ENST00000377034.4	37	c.1146	CCDS4663.1	6																																																																																			GABBR1	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B		0.423	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	A			29589055	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	silent	SNP	0.996	G	G	29589055	A	G	29589055	2	3	131	1	0	0	0	0	0	0	0	1	6173	262	10	5		5	GABBR1	6	29589055	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1319830	29589055	141526012	720	20860										
HLA-F	3134	genome.wustl.edu	37	chr6	29692208	29692208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atacttggagaatgggaaggAgacgctacagcgcgcaggta	15	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:29692208A>G	ENST00000376861.1	+	4	977	c.593A>G	c.(592-594)gAg>gGg	p.E198G	HLA-F_ENST00000434407.2_Missense_Mutation_p.E198G|HLA-F_ENST00000440587.2_Missense_Mutation_p.E80G|HLA-F_ENST00000259951.7_Missense_Mutation_p.E198G|HLA-F_ENST00000334668.4_Missense_Mutation_p.E198G			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	198	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AATGGGAAGGAGACGCTACAG	0.587																																																	0													46	47	46					6																	29692208		1508	2706	4214	SO:0001583	missense	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.593A>G	6.37:g.29692208A>G	ENSP00000366057:p.Glu198Gly		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E198G	ENST00000376861.1	37	c.593	CCDS43438.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.9|20.9	4.065939|4.065939	0.76187|0.76187	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587;ENST00000434407|ENST00000429294	T;T;T;T;T|.	0.00892|.	5.57;5.57;5.57;5.57;5.57|.	1.63|1.63	1.63|1.63	0.23807|0.23807	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.613380|.	0.04968|.	U|.	0.463348|.	T|T	0.67392|0.67392	0.2888|0.2888	H|H	0.98612|0.98612	4.28|4.28	0.22531|0.22531	N|N	0.999015|0.999015	D;D;D;D|.	0.89917|.	1.0;0.983;0.979;0.979|.	D;D;P;D|.	0.74674|.	0.984;0.925;0.878;0.973|.	T|T	0.59984|0.59984	-0.7351|-0.7351	10|5	0.87932|.	D|.	0|.	.|.	5.2117|5.2117	0.15320|0.15320	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	198;198;198;198|.	A8MVU7;P30511;P30511-3;P30511-2|.	.;HLAF_HUMAN;.;.|.	G|G	198;175;198;198;112;80;198|77	ENSP00000366057:E198G;ENSP00000334263:E198G;ENSP00000259951:E198G;ENSP00000404130:E80G;ENSP00000397376:E198G|.	ENSP00000259951:E198G|.	E|R	+|+	2|1	0|2	HLA-F|HLA-F	29800187|29800187	0.959000|0.959000	0.32827|0.32827	0.994000|0.994000	0.49952|0.49952	0.750000|0.750000	0.42670|0.42670	3.080000|3.080000	0.50112|0.50112	0.724000|0.724000	0.32296|0.32296	0.358000|0.358000	0.22013|0.22013	GAG|AGA	HLA-F	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.587	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	A	NM_018950		29692208	1	no_errors	ENST00000259951	ensembl	human	known	70_37	missense	SNP	0.988	G	G	29692208	A	G	29692208	3	3	131	1	0	0	0	0	1	0	0	0	7231	304	11	5	603	5	HLA-F	6	29692208	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	103153	29692208	141422859	721	20861										
HLA-A	3105	genome.wustl.edu	37	chr6	29911919	29911919	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccccccaagacacatatgAcccaccaccccatctctgac	3	21	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:29911919A>C	ENST00000396634.1	+	6	981	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	HLA-A_ENST00000376806.5_Missense_Mutation_p.T214P|HLA-A_ENST00000376809.5_Missense_Mutation_p.T214P|HLA-A_ENST00000376802.2_Missense_Mutation_p.T214P			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	214	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GACACATATGACCCACCACCC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													107	136	126					6																	29911919		1507	2707	4214	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.640A>C	6.37:g.29911919A>C	ENSP00000379873:p.Thr214Pro		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.T214P	ENST00000396634.1	37	c.640	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	9.940	1.217149	0.22373	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	3.69	1.1	0.20463	Immunoglobulin-like (4);Immunoglobulin-like fold (4);	0.756506	0.10851	U	0.627145	T	0.30103	0.0754	H	0.96970	3.915	0.09310	N	1	B;P;B;P;P;D;P	0.53462	0.315;0.893;0.306;0.784;0.695;0.96;0.784	B;D;P;D;P;D;D	0.65323	0.27;0.934;0.733;0.934;0.883;0.934;0.934	T	0.06698	-1.0812	10	0.87932	D	0	.	5.6038	0.17369	0.7576:0.0:0.2424:0.0	.	93;214;214;214;214;214;214	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	P	214;214;2;214;214	ENSP00000379873:T214P;ENSP00000366002:T214P;ENSP00000366005:T214P;ENSP00000365998:T214P	ENSP00000365998:T214P	T	+	1	0	HLA-A	30019898	0.089000	0.21612	0.005000	0.12908	0.005000	0.04900	0.318000	0.19504	0.122000	0.18314	0.397000	0.26171	ACC	HLA-A	-	pfscan_Ig-like		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	A	NM_002116		29911919	1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.033	C	C	29911919	A	C	29911919	3	2	131	1	0	0	0	0	1	0	0	0	7215	275	10	5	654	5	HLA-A	6	29911919	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	219711	29911919	141203148	722	20862										
TRIM40	135644	genome.wustl.edu	37	chr6	30105115	30105115	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgtcccctgaacacatgtCtcatcatgaactgaccattg	8	12	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:30105115C>A	ENST00000396581.1	+	2	688	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	TRIM40_ENST00000307859.4_Missense_Mutation_p.S101Y|TRIM40_ENST00000376724.2_Missense_Mutation_p.S101Y			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	101					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GAACACATGTCTCATCATGAA	0.557																																																	0													180	149	160					6																	30105115		1510	2709	4219	SO:0001583	missense	135644			AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.302C>A	6.37:g.30105115C>A	ENSP00000379826:p.Ser101Tyr		Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.S101Y	ENST00000396581.1	37	c.302		6	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250480	0.39797	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.58060	0.36;0.36;0.36	4.71	1.83	0.25207	Zinc finger, B-box (1);	1.362050	0.04954	N	0.460800	T	0.37404	0.1002	M	0.72118	2.19	0.09310	N	1	P;D	0.56521	0.947;0.976	P;P	0.47744	0.556;0.556	T	0.09487	-1.0672	10	0.36615	T	0.2	.	4.1216	0.10108	0.1832:0.618:0.0:0.1987	.	101;101	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	Y	101	ENSP00000379826:S101Y;ENSP00000365914:S101Y;ENSP00000308310:S101Y	ENSP00000308310:S101Y	S	+	2	0	TRIM40	30213094	0.045000	0.20229	0.019000	0.16419	0.619000	0.37552	0.593000	0.23999	0.601000	0.29879	0.573000	0.79308	TCT	TRIM40	-	pfscan_Znf_B-box		0.557	TRIM40-001	KNOWN	basic	protein_coding	TRIM40	HGNC	protein_coding	OTTHUMT00000076117.2	C			30105115	1	no_errors	ENST00000376724	ensembl	human	known	70_37	missense	SNP	0.009	A	A	30105115	C	A	30105115	3	1	131	1	0	0	0	0	1	0	0	0	16546	913	32	3	304	3	TRIM40	6	30105115	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	193196	30105115	141009952	723	20863										
TRIM39	56658	genome.wustl.edu	37	chr6	30309562	30309562	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatcgtaagagcgtcaagttCgtggagacaagactccggga	14	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:30309562C>T	ENST00000396547.1	+	8	1243	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TRIM39_ENST00000396548.1_Silent_p.F331F|TRIM39_ENST00000396551.3_Silent_p.F331F|TRIM39_ENST00000540416.1_Silent_p.F331F|TRIM39_ENST00000376656.4_Silent_p.F361F|TRIM39-RPP21_ENST00000513556.1_Silent_p.F243F|TRIM39_ENST00000376659.5_Silent_p.F331F			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCGTCAAGTTCGTGGAGACAA	0.572																																																	0													105	68	81					6																	30309562		1511	2709	4220	SO:0001819	synonymous_variant	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1083C>T	6.37:g.30309562C>T			Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F361	ENST00000396547.1	37	c.1083	CCDS34377.1	6																																																																																			TRIM39	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.572	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	C	NM_172016		30309562	1	no_errors	ENST00000376656	ensembl	human	known	70_37	silent	SNP	0.777	T	T	30309562	C	T	30309562	2	4	131	1	0	0	0	0	0	0	0	1	16544	883	31	1		1	TRIM39	6	30309562	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	204447	30309562	140805505	724	20864										
CFB	629	genome.wustl.edu	37	chr6	31918952	31918952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccctgcacaggatatcaaAgctctgtttgtgtctgagga	10	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:31918952A>C	ENST00000425368.2	+	15	2400	c.1887A>C	c.(1885-1887)aaA>aaC	p.K629N	CFB_ENST00000456570.1_Missense_Mutation_p.K1131N|CFB_ENST00000477310.1_Missense_Mutation_p.K980N|CFB_ENST00000556679.1_Missense_Mutation_p.K1131N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	629	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGGATATCAAAGCTCTGTTTG	0.512																																																	0													103	105	104					6																	31918952		1511	2709	4220	SO:0001583	missense	629			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1887A>C	6.37:g.31918952A>C	ENSP00000416561:p.Lys629Asn		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K1131N	ENST00000425368.2	37	c.3393	CCDS4729.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.56|19.56	3.850146|3.850146	0.71719|0.71719	.|.	.|.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000243649	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310|ENST00000483004	D;D;D;D|D	0.88431|0.88896	-2.38;-2.38;-2.38;-2.38|-2.44	5.41|5.41	4.22|4.22	0.49857|0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.401514|0.401514	0.21200|0.21200	N|N	0.078496|0.078496	T|T	0.80259|0.80259	0.4590|0.4590	L|L	0.39326|0.39326	1.205|1.205	0.45648|0.45648	D|D	0.998576|0.998576	D;B|.	0.59357|.	0.985;0.113|.	P;B|.	0.61592|.	0.891;0.149|.	T|T	0.79864|0.79864	-0.1623|-0.1623	10|8	0.44086|0.59425	T|D	0.13|0.04	-8.2175|-8.2175	5.1575|5.1575	0.15042|0.15042	0.7556:0.0:0.0864:0.1579|0.7556:0.0:0.0864:0.1579	.|.	1131;629|.	B4E1Z4;P00751|.	.;CFAB_HUMAN|.	N|T	1131;629;1131;980|170	ENSP00000451848:K1131N;ENSP00000416561:K629N;ENSP00000410815:K1131N;ENSP00000418996:K980N|ENSP00000419887:K170T	ENSP00000416561:K629N|ENSP00000419887:K170T	K|K	+|+	3|2	2|0	CFB;XXbac-BPG116M5.17|CFB	32026931|32026931	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.968000|0.968000	0.65278|0.65278	1.001000|1.001000	0.29783|0.29783	0.856000|0.856000	0.35383|0.35383	0.482000|0.482000	0.46254|0.46254	AAA|AAG	CFB	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.512	CFB-001	KNOWN	basic|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076395.3	A	NM_001710		31918952	1	no_errors	ENST00000556679	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31918952	A	C	31918952	3	2	131	1	0	0	0	0	1	0	0	0	3283	69	3	5	1945	5	CFB	6	31918952	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1609390	31918952	139196115	725	20865										
SKIV2L	6499	genome.wustl.edu	37	chr6	31933633	31933633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtagtgtttgactccatgcGcaaacacgatggctccacct	9	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:31933633G>A	ENST00000375394.2	+	18	2158	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R489H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	682	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GACTCCATGCGCAAACACGAT	0.592																																																	0													127	97	108					6																	31933633		1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2045G>A	6.37:g.31933633G>A	ENSP00000364543:p.Arg682His		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R682H	ENST00000375394.2	37	c.2045	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.549362	0.96501	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.44881	0.91;0.91	5.48	5.48	0.80851	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.48986	1.54	0.80722	D	1	P	0.45986	0.87	B	0.36766	0.232	T	0.30387	-0.9980	10	0.87932	D	0	-17.6245	18.126	0.89586	0.0:0.0:1.0:0.0	.	682	Q15477	SKIV2_HUMAN	H	682;524;489	ENSP00000364543:R682H;ENSP00000442645:R489H	ENSP00000364543:R682H	R	+	2	0	SKIV2L	32041612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.389000	0.90172	2.581000	0.87130	0.655000	0.94253	CGC	SKIV2L	-	pfam_Helicase_C,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	G			31933633	1	no_errors	ENST00000375394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31933633	G	A	31933633	3	1	131	1	0	0	0	0	1	0	0	0	14389	1087	38	2	2115	2	SKIV2L	6	31933633	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	14681	31933633	139181434	726	20866										
C6orf10	10665	genome.wustl.edu	37	chr6	32261158	32261158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctttggcacatctgcctcaGtcttctctacttggccttct	6	15	5	0	rs114543649	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:32261158G>T	ENST00000447241.2	-	23	1464	c.1292C>A	c.(1291-1293)aCt>aAt	p.T431N	C6orf10_ENST00000527965.1_Missense_Mutation_p.T415N|C6orf10_ENST00000375015.4_Missense_Mutation_p.T430N|C6orf10_ENST00000375007.4_Missense_Mutation_p.T429N|C6orf10_ENST00000533191.1_Missense_Mutation_p.T429N|C6orf10_ENST00000442822.2_Missense_Mutation_p.T422N	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	431						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATCTGCCTCAGTCTTCTCTAC	0.468																																																	0													178	201	193					6																	32261158		1511	2708	4219	SO:0001583	missense	10665			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1292C>A	6.37:g.32261158G>T	ENSP00000415517:p.Thr431Asn		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	NULL	p.T431N	ENST00000447241.2	37	c.1292	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.713833	0.00706	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.03982	3.74;3.75;3.74;3.74;3.74;3.74	3.38	-0.619	0.11572	.	.	.	.	.	T	0.01189	0.0039	N	0.25647	0.755	0.09310	N	1	B;B	0.29037	0.069;0.231	B;B	0.38755	0.046;0.281	T	0.48581	-0.9023	9	0.16896	T	0.51	-6.4165	5.3342	0.15949	0.0:0.2388:0.4573:0.304	.	431;422	Q5SRN2;C9J9T8	CF010_HUMAN;.	N	422;431;430;429;415;429;428;428	ENSP00000411164:T422N;ENSP00000415517:T431N;ENSP00000364155:T430N;ENSP00000431199:T429N;ENSP00000435103:T415N;ENSP00000364146:T429N	ENSP00000303292:T428N	T	-	2	0	C6orf10	32369136	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.925000	0.03992	-0.454000	0.07066	-0.225000	0.12378	ACT	C6orf10	-	NULL		0.468	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	G	NM_006781		32261158	-1	no_errors	ENST00000447241	ensembl	human	known	70_37	missense	SNP	0.018	T	T	32261158	G	T	32261158	3	4	131	1	0	0	0	0	1	0	0	0	2322	1029	36	4	403	4	C6orf10	6	32261158	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	327525	32261158	138853909	727	20867										
TAP2	6891	genome.wustl.edu	37	chr6	32800468	32800468	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatacagctgccgacattgtTcaagggcctctttatagcga	9	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:32800468T>G	ENST00000452392.2	-	6	1252	c.1079A>C	c.(1078-1080)gAa>gCa	p.E360A	TAP2_ENST00000485701.1_5'UTR|TAP2_ENST00000374897.2_Missense_Mutation_p.E360A|TAP2_ENST00000374899.4_Missense_Mutation_p.E360A			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CCGACATTGTTCAAGGGCCTC	0.587																																																	0													129	111	118					6																	32800468		1510	2708	4218	SO:0001583	missense	6891			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1079A>C	6.37:g.32800468T>G	ENSP00000391806:p.Glu360Ala		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.E360A	ENST00000452392.2	37	c.1079		6	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495153	0.64186	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.90504	-2.68;-2.68;-2.68	4.96	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.48767	D	0.000170	D	0.91496	0.7315	M	0.87682	2.9	0.26886	N	0.967421	B;P;P;P	0.46621	0.392;0.881;0.881;0.881	B;P;P;P	0.50192	0.262;0.634;0.634;0.634	D	0.91800	0.5451	9	0.40728	T	0.16	-35.1287	12.6192	0.56594	0.0:0.0:0.0:1.0	.	360;361;360;360	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	A	360	ENSP00000364034:E360A;ENSP00000364032:E360A;ENSP00000391806:E360A	ENSP00000364032:E360A	E	-	2	0	XXbac-BPG246D15.9;TAP2	32908446	0.107000	0.21998	0.994000	0.49952	0.139000	0.21198	2.126000	0.42026	2.078000	0.62432	0.391000	0.25812	GAA	TAP2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2		0.587	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	T	NM_000544		32800468	-1	no_errors	ENST00000374897	ensembl	human	known	70_37	missense	SNP	0.988	G	G	32800468	T	G	32800468	3	3	131	1	0	0	0	0	1	0	0	0	15581	1783	62	5	1094	5	TAP2	6	32800468	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	539310	32800468	138314599	728	20868										
SLC39A7	7922	genome.wustl.edu	37	chr6	33169685	33169685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgcacctcattcctcatgCtcttggtaagtaacctctga	6	14	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:33169685C>T	ENST00000374677.3	+	2	948	c.575C>T	c.(574-576)gCt>gTt	p.A192V	SLC39A7_ENST00000374675.3_Missense_Mutation_p.A192V|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	192					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATTCCTCATGCTCTTGGTAAG	0.473																																																	0													157	174	168					6																	33169685		1309	2562	3871	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.575C>T	6.37:g.33169685C>T	ENSP00000363809:p.Ala192Val		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.A192V	ENST00000374677.3	37	c.575	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883949	0.91814	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T;T	0.51325	0.71;0.71;0.71	4.88	4.88	0.63580	.	0.113281	0.64402	D	0.000018	T	0.52041	0.1710	M	0.62016	1.91	0.80722	D	1	P;D	0.57257	0.851;0.979	P;P	0.59825	0.581;0.864	T	0.44636	-0.9315	10	0.31617	T	0.26	-3.729	15.568	0.76309	0.0:1.0:0.0:0.0	.	173;192	B4DVK8;Q92504	.;S39A7_HUMAN	V	102;192;173;97;192	ENSP00000400978:A102V;ENSP00000363807:A192V;ENSP00000363809:A192V	ENSP00000363807:A192V	A	+	2	0	SLC39A7	33277663	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.824000	0.75288	2.543000	0.85770	0.549000	0.68633	GCT	SLC39A7	-	pfam_ZIP		0.473	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	C	NM_006979		33169685	1	no_errors	ENST00000374675	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33169685	C	T	33169685	3	4	131	1	0	0	0	0	1	0	0	0	14653	797	28	4	581	4	SLC39A7	6	33169685	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	369217	33169685	137945382	729	20869										
TAPBP	9278	genome.wustl.edu	37	chr6	33281019	33281019	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccatggtgatgagaacaggCtcctgctgaggctctggctg	15	10	1	3	rs4077083		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:33281019C>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000426633.2_Missense_Mutation_p.E148D|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000456592.2_Missense_Mutation_p.E148D|TAPBP_ENST00000475304.1_Missense_Mutation_p.E148D|TAPBP_ENST00000434618.2_Missense_Mutation_p.E148D	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGAGAACAGGCTCCTGCTGAG	0.617																																																	0													61	64	63					6																	33281019		2203	4300	6503	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281019C>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.E148D	ENST00000431845.2	37	c.444	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174693	0.38413	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	T;T;T;T	0.34472	1.4;2.55;1.36;1.4	4.3	1.49	0.22878	.	1.031310	0.07760	N	0.949883	T	0.28167	0.0695	M	0.74881	2.28	0.29132	N	0.879597	P;D;P;P;P	0.63880	0.613;0.993;0.828;0.828;0.736	B;P;B;B;B	0.54629	0.117;0.757;0.163;0.163;0.079	T	0.06826	-1.0805	10	0.26408	T	0.33	3.9705	3.6853	0.08326	0.1935:0.5974:0.0:0.2092	.	148;148;148;148;148	G5E9H8;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;TPSN_HUMAN	D	148;148;148;148;148;148;91	ENSP00000395701:E148D;ENSP00000417949:E148D;ENSP00000404833:E148D;ENSP00000387803:E148D	ENSP00000404833:E148D	E	-	3	2	TAPBP	33388997	0.039000	0.19947	0.789000	0.31954	0.898000	0.52572	-0.272000	0.08560	0.098000	0.17522	0.544000	0.68410	GAG	TAPBP	-	NULL		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000076183.2	C			33281019	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	missense	SNP	0.917	A	A	33281019	C	A	33281019	1	1	131	0	1	0	0	0	0	0	0	0	15582	796	28	4		4	TAPBP	6	33281019	IGR	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	111334	33281019	137834048	730	20870										
SYNGAP1	8831	genome.wustl.edu	37	chr6	33391280	33391280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggggaccctctatgcaccgaAcccaatacgttcattccccg	8	16	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:33391280A>T	ENST00000418600.2	+	2	195	c.94A>T	c.(94-96)Acc>Tcc	p.T32S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T32S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	32					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TATGCACCGAACCCAATACGT	0.527																																																	0													262	227	239					6																	33391280		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.94A>T	6.37:g.33391280A>T	ENSP00000403636:p.Thr32Ser		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.T32S	ENST00000418600.2	37	c.94	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950484	0.53186	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.16457	2.34;2.43	3.73	3.73	0.42828	Pleckstrin homology domain (1);	0.176277	0.34067	N	0.004293	T	0.04815	0.0130	N	0.22421	0.69	0.25305	N	0.989246	B;B;B	0.29955	0.171;0.263;0.003	B;B;B	0.29785	0.05;0.107;0.004	T	0.22556	-1.0213	10	0.56958	D	0.05	.	10.7354	0.46122	1.0:0.0:0.0:0.0	.	32;32;32	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	S	32	ENSP00000293748:T32S;ENSP00000403636:T32S	ENSP00000293748:T32S	T	+	1	0	SYNGAP1	33499258	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.138000	0.64795	1.706000	0.51276	0.454000	0.30748	ACC	SYNGAP1	-	smart_Pleckstrin_homology		0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	A	XM_166407		33391280	1	no_errors	ENST00000418600	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33391280	A	T	33391280	3	4	131	1	0	0	0	0	1	0	0	0	15477	43	2	5	100	5	SYNGAP1	6	33391280	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	110261	33391280	137723787	731	20871										
TCP11	6954	genome.wustl.edu	37	chr6	35088206	35088206	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgcccccagacattcctacCtcagggaactcttcattttc	5	15	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:35088206C>A	ENST00000512012.1	-	6	1089	c.933G>T	c.(931-933)gaG>gaT	p.E311D	TCP11_ENST00000311875.5_Splice_Site_p.E324D|TCP11_ENST00000373974.4_Splice_Site_p.E278D|TCP11_ENST00000412155.2_Splice_Site_p.E273D|TCP11_ENST00000373979.2_Splice_Site_p.E249D|TCP11_ENST00000418521.2_Splice_Site_p.E248D|TCP11_ENST00000244645.3_Splice_Site_p.E249D|TCP11_ENST00000444780.2_Splice_Site_p.E319D			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	311					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACATTCCTACCTCAGGGAACT	0.557																																																	0													106	117	113					6																	35088206		2203	4300	6503	SO:0001630	splice_region_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.933+1G>T	6.37:g.35088206C>A			B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	pfam_Tcp11	p.E324D	ENST00000512012.1	37	c.972		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.707092|4.707092	0.89018|0.89018	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000502480|ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	.|T;T;T;T;T;T;T;T;T	.|0.17370	.|2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.03|5.03	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40247|0.40247	0.1109|0.1109	M|M	0.92367|0.92367	3.3|3.3	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0	T|T	0.54370|0.54370	-0.8304|-0.8304	5|9	.|.	.|.	.|.	-24.5685|-24.5685	12.1428|12.1428	0.54007|0.54007	0.0:0.9175:0.0:0.0825|0.0:0.9175:0.0:0.0825	.|.	.|278;273;319;384;311;249	.|B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.|.;.;.;.;TCP11_HUMAN;.	Y|D	119|249;273;249;273;324;319;278;248;311;170	.|ENSP00000363091:E249D;ENSP00000402816:E273D;ENSP00000244645:E249D;ENSP00000308708:E324D;ENSP00000404479:E319D;ENSP00000363085:E278D;ENSP00000415320:E248D;ENSP00000425995:E311D;ENSP00000421103:E170D	.|.	D|E	-|-	1|3	0|2	TCP11|TCP11	35196184|35196184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.681000|4.681000	0.61663|0.61663	1.220000|1.220000	0.43490|0.43490	0.557000|0.557000	0.71058|0.71058	GAC|GAG	TCP11	-	pfam_Tcp11		0.557	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1	C	NM_001093728	Missense_Mutation	35088206	-1	no_errors	ENST00000311875	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35088206	C	A	35088206	5	1	131	1	0	0	0	0	0	0	1	0	15743	695	24	4	594	4	TCP11	6	35088206	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1696926	35088206	136026861	732	20872										
PPARD	5467	genome.wustl.edu	37	chr6	35391729	35391729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccttccctgtgcagctatccGttttggtcggatgccggagg	13	12	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:35391729G>A	ENST00000311565.4	+	7	780	c.431G>A	c.(430-432)cGt>cAt	p.R144H	PPARD_ENST00000360694.3_Missense_Mutation_p.R144H|PPARD_ENST00000337400.2_Missense_Mutation_p.R144H|PPARD_ENST00000540939.1_Missense_Mutation_p.R41H|PPARD_ENST00000448077.2_Missense_Mutation_p.R105H|PPARD_ENST00000418635.2_Missense_Mutation_p.R46H|PPARD_ENST00000444397.1_Missense_Mutation_p.R144H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	144					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCAGCTATCCGTTTTGGTCGG	0.617																																																	0													49	53	52					6																	35391729		2203	4300	6503	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.431G>A	6.37:g.35391729G>A	ENSP00000310928:p.Arg144His		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt	p.R144H	ENST00000311565.4	37	c.431	CCDS4803.1	6	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469115	0.63625	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-3.47;-4.06;-4.06;-4.06;-4.06	4.51	4.51	0.55191	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.112639	0.64402	D	0.000011	D	0.97823	0.9285	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.983	D	0.98753	1.0721	10	0.87932	D	0	.	17.4248	0.87524	0.0:0.0:1.0:0.0	.	46;105;144;144	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	H	105;144;46;144;144;144;41	ENSP00000414372:R105H;ENSP00000353916:R144H;ENSP00000413314:R46H;ENSP00000410837:R144H;ENSP00000310928:R144H;ENSP00000337063:R144H;ENSP00000443759:R41H	ENSP00000310928:R144H	R	+	2	0	PPARD	35499707	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	9.601000	0.98297	2.356000	0.79943	0.467000	0.42956	CGT	PPARD	-	prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.617	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	G	NM_006238		35391729	1	no_errors	ENST00000311565	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35391729	G	A	35391729	3	1	131	1	0	0	0	0	1	0	0	0	12322	1145	40	2	462	2	PPARD	6	35391729	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	303523	35391729	135723338	733	20873										
SFRS3	6428	genome.wustl.edu	37	chr6	36566676	36566676	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actgtcgaatggtgaaaaaaGaagtagaaatcgtggcccac	11	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:36566676G>T	ENST00000373715.6	+	3	373	c.257G>T	c.(256-258)aGa>aTa	p.R86I	SRSF3_ENST00000339436.7_Missense_Mutation_p.R86I	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	86	Arg/Ser-rich (RS domain).|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GGTGAAAAAAGAAGTAGAAAT	0.498																																																	0													149	139	142					6																	36566676		2203	4300	6503	SO:0001583	missense	6428			L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.257G>T	6.37:g.36566676G>T	ENSP00000362820:p.Arg86Ile		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R86I	ENST00000373715.6	37	c.257	CCDS4823.1	6	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582550	0.86748	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.74842	0.95;-0.88	5.59	5.59	0.84812	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.82323	2.585	0.80722	D	1	D;D	0.55605	0.972;0.972	P;D	0.66497	0.766;0.944	D	0.87045	0.2143	10	0.87932	D	0	.	19.5798	0.95461	0.0:0.0:1.0:0.0	.	86;86	B4E241;P84103	.;SRSF3_HUMAN	I	86	ENSP00000362820:R86I;ENSP00000344762:R86I	ENSP00000344762:R86I	R	+	2	0	SRSF3	36674654	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.622000	0.88805	0.563000	0.77884	AGA	SRSF3	-	NULL		0.498	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF3	HGNC	protein_coding	OTTHUMT00000040347.2	G	NM_003017		36566676	1	no_errors	ENST00000373715	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36566676	G	T	36566676	3	4	131	1	0	0	0	0	1	0	0	0	14208	942	33	3	263	3	SFRS3	6	36566676	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1174947	36566676	134548391	734	20874										
TBC1D22B	55633	genome.wustl.edu	37	chr6	37247081	37247081	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtgtctcctttcttgaagtTtcattaaagaacgatcaaaa	6	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:37247081T>C	ENST00000373491.3	+	3	261	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	39							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TTCTTGAAGTTTCATTAAAGA	0.378																																																	0													98	96	96					6																	37247081		2203	4300	6503	SO:0001630	splice_region_variant	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.114-1T>C	6.37:g.37247081T>C			A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F39L	ENST00000373491.3	37	c.115	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	T	0.837	-0.743182	0.03088	.	.	ENSG00000065491	ENST00000373491	D	0.88124	-2.34	5.54	5.54	0.83059	.	0.170265	0.53938	D	0.000047	T	0.62332	0.2419	N	0.12569	0.235	0.42214	D	0.991828	B	0.02656	0.0	B	0.04013	0.001	T	0.61594	-0.7031	10	0.11182	T	0.66	.	14.9383	0.70975	0.0:0.0:0.0:1.0	.	39	Q9NU19	TB22B_HUMAN	L	39	ENSP00000362590:F39L	ENSP00000362590:F39L	F	+	1	0	TBC1D22B	37355059	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	2.965000	0.49200	2.223000	0.72356	0.460000	0.39030	TTC	TBC1D22B	-	NULL		0.378	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	T	NM_017772	Missense_Mutation	37247081	1	no_errors	ENST00000373491	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37247081	T	C	37247081	5	2	131	1	0	0	0	0	0	0	1	0	15642	1855	64	5	125	5	TBC1D22B	6	37247081	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	680405	37247081	133867986	735	20875										
FTSJD2	23070	genome.wustl.edu	37	chr6	37426574	37426574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgcttccagtgaactcttcGaaccctactatggtagggac	9	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:37426574G>A	ENST00000373451.4	+	9	1128	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	322	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TGAACTCTTCGAACCCTACTA	0.507																																																	0													77	69	72					6																	37426574		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.964G>A	6.37:g.37426574G>A	ENSP00000362550:p.Glu322Lys		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.E322K	ENST00000373451.4	37	c.964	CCDS4835.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.692010	0.96793	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.28255	1.62;1.62	5.87	5.87	0.94306	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.54908	1.71	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.67103	0.949;0.825	T	0.02251	-1.1188	10	0.17832	T	0.49	-24.9934	19.2073	0.93736	0.0:0.0:1.0:0.0	.	266;322	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	K	322;266;266	ENSP00000362550:E322K;ENSP00000414233:E266K	ENSP00000362526:E266K	E	+	1	0	FTSJD2	37534552	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.471000	0.97696	2.780000	0.95670	0.655000	0.94253	GAA	FTSJD2	-	pfam_rRNA_MeTrfase_FtsJ_dom		0.507	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	G	NM_015050		37426574	1	no_errors	ENST00000373451	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37426574	G	A	37426574	3	1	131	1	0	0	0	0	1	0	0	0	6109	1059	37	1	994	1	FTSJD2	6	37426574	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	179493	37426574	133688493	736	20876										
FTSJD2	23070	genome.wustl.edu	37	chr6	37443917	37443917	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtagaattcagcttgccgaGaaatttgtgaaagccgtttc	10	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:37443917G>T	ENST00000373451.4	+	20	2216	c.2052G>T	c.(2050-2052)gaG>gaT	p.E684D		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	684					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AGCTTGCCGAGAAATTTGTGA	0.537																																																	0													127	122	124					6																	37443917		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2052G>T	6.37:g.37443917G>T	ENSP00000362550:p.Glu684Asp		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.E684D	ENST00000373451.4	37	c.2052	CCDS4835.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.490555|3.490555	0.64074|0.64074	.|.	.|.	ENSG00000137200|ENSG00000137200	ENST00000373451;ENST00000373420;ENST00000452299|ENST00000457419	D|.	0.85411|.	-1.98|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.134755|.	0.64402|.	D|.	0.000002|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	B|.	0.13145|.	0.007|.	B|.	0.10450|.	0.005|.	T|T	0.69993|0.69993	-0.4994|-0.4994	10|5	0.48119|.	T|.	0.1|.	-19.4094|-19.4094	17.8968|17.8968	0.88891|0.88891	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	684|.	Q8N1G2|.	MTR1_HUMAN|.	D|I	684;91;28|37	ENSP00000362550:E684D|.	ENSP00000362519:E91D|.	E|R	+|+	3|2	2|0	FTSJD2|FTSJD2	37551895|37551895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.462000|4.462000	0.60121|0.60121	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	GAG|AGA	FTSJD2	-	NULL		0.537	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	G	NM_015050		37443917	1	no_errors	ENST00000373451	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37443917	G	T	37443917	3	4	131	1	0	0	0	0	1	0	0	0	6109	933	33	3	2126	3	FTSJD2	6	37443917	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	17343	37443917	133671150	737	20877										
DNAH8	1769	genome.wustl.edu	37	chr6	38738332	38738332	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctttttgcaaaagactggaGaaggtaagcattatgcagtc	11	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38738332G>T	ENST00000359357.3	+	10	1364	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	DNAH8_ENST00000441566.1_Missense_Mutation_p.E370D|DNAH8_ENST00000449981.2_Missense_Mutation_p.E587D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	370					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.E370D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGACTGGAGAAGGTAAGCA	0.363																																																	2	Substitution - Missense(2)	cervix(2)											41	39	40					6																	38738332		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1110G>T	6.37:g.38738332G>T	ENSP00000352312:p.Glu370Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E370D	ENST00000359357.3	37	c.1110		6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829598	0.32329	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55052	0.54;0.54;0.54	5.27	2.5	0.30297	Dynein heavy chain, domain-1 (1);	0.060689	0.64402	D	0.000005	T	0.18551	0.0445	L	0.38692	1.165	0.45962	D	0.998784	B	0.17038	0.02	B	0.24701	0.055	T	0.05903	-1.0857	10	0.13470	T	0.59	.	6.265	0.20922	0.3966:0.0:0.6034:0.0	.	370	Q96JB1	DYH8_HUMAN	D	575;575;370;370	ENSP00000333363:E575D;ENSP00000352312:E370D;ENSP00000402294:E370D	ENSP00000333363:E575D	E	+	3	2	DNAH8	38846310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.107000	0.41844	0.725000	0.32318	-0.152000	0.13540	GAG	DNAH8	-	pfam_Dynein_heavy_dom-1		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38738332	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38738332	G	T	38738332	3	4	131	1	0	0	0	0	1	0	0	0	4617	933	33	3	1140	3	DNAH8	6	38738332	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1294415	38738332	132376735	738	20878										
DNAH8	1769	genome.wustl.edu	37	chr6	38820563	38820564	+	Frame_Shift_Ins	INS	-	-	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtcatatcaagagaaggagINSaaaaaattgttgtaatttac							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38820563_38820564insA	ENST00000359357.3	+	38	5163_5164	c.4909_4910insA	c.(4909-4911)gaafs	p.E1637fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.E1637fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.E1854fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1637					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGAGAAGGAGAAAAAATTGTT	0.347																																																	0																																										SO:0001589	frameshift_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4915dupA	6.37:g.38820569_38820569dupA	ENSP00000352312:p.Glu1637fs		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I1639fs	ENST00000359357.3	37	c.4909_4910		6																																																																																			DNAH8	-	pfam_Dynein_heavy_dom-2		0.347	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	NM_001206927		38820564	1	no_errors	ENST00000359357	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	38820564	-	A	38820563	7	5	131	1	0	1	1	0	0	0	0	0	4617	943	33	0	5051	0	DNAH8	6	38820563	Frame_Shift_Ins	INS	-	TCGA-FU-A3HZ-01A-11D-A20U-09	82231	38820563	132294504	739	20879										
DNAH8	1769	genome.wustl.edu	37	chr6	38834409	38834409	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggaactaccagaaaacctaAaaatccagtttagaactgtt	6	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38834409A>C	ENST00000359357.3	+	44	6144	c.5890A>C	c.(5890-5892)Aaa>Caa	p.K1964Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.K1964Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2181Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1964	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAAACCTAAAAATCCAGTT	0.328																																																	0													74	74	74					6																	38834409		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5890A>C	6.37:g.38834409A>C	ENSP00000352312:p.Lys1964Gln		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K1964Q	ENST00000359357.3	37	c.5890		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.8|28.8	4.950677|4.950677	0.92660|0.92660	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.14022|.	2.54;2.54;2.54|.	5.87|5.87	5.87|5.87	0.94306|0.94306	ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79724|.	0.4495|.	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.82493|.	-0.0430|.	10|.	0.87932|.	D|.	0|.	.|.	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1964|.	Q96JB1|.	DYH8_HUMAN|.	Q|Y	2169;2169;1964;1964|45	ENSP00000333363:K2169Q;ENSP00000352312:K1964Q;ENSP00000402294:K1964Q|.	ENSP00000333363:K2169Q|.	K|X	+|+	1|3	0|2	DNAH8|DNAH8	38942387|38942387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.277000|9.277000	0.95755|0.95755	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|TAA	DNAH8	-	smart_AAA+_ATPase		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	A	NM_001206927		38834409	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38834409	A	C	38834409	3	2	131	1	0	0	0	0	1	0	0	0	4617	15	1	5	6056	5	DNAH8	6	38834409	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	13846	38834409	132280658	740	20880										
DNAH8	1769	genome.wustl.edu	37	chr6	38881726	38881726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcttccataaaagcagacGaagtgagtttgcatttattt	9	6	0	2	rs200884766		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38881726G>A	ENST00000359357.3	+	65	9564	c.9310G>A	c.(9310-9312)Gaa>Aaa	p.E3104K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3068K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3321K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3104	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCAGACGAAGTGAGTTT	0.368																																																	0													125	122	123					6																	38881726		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9310G>A	6.37:g.38881726G>A	ENSP00000352312:p.Glu3104Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3104K	ENST00000359357.3	37	c.9310		6	.	.	.	.	.	.	.	.	.	.	G	9.637	1.137884	0.21123	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.80123	-1.34;-0.56;-0.56;-0.56	6.08	5.16	0.70880	Dynein heavy chain, coiled coil stalk (1);	0.100625	0.64402	D	0.000002	T	0.39253	0.1071	N	0.08118	0	0.49687	D	0.999811	B	0.11235	0.004	B	0.09377	0.004	T	0.43393	-0.9394	10	0.08837	T	0.75	.	6.7218	0.23334	0.1736:0.1499:0.6766:0.0	.	3104	Q96JB1	DYH8_HUMAN	K	3309;3309;3104;3068	ENSP00000415331:E3309K;ENSP00000333363:E3309K;ENSP00000352312:E3104K;ENSP00000402294:E3068K	ENSP00000333363:E3309K	E	+	1	0	DNAH8	38989704	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.666000	0.37460	2.894000	0.99253	0.655000	0.94253	GAA	DNAH8	-	NULL		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38881726	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38881726	G	A	38881726	3	1	131	1	0	0	0	0	1	0	0	0	4617	1059	37	1	9560	1	DNAH8	6	38881726	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	47317	38881726	132233341	741	20881										
DNAH8	1769	genome.wustl.edu	37	chr6	38893972	38893972	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggattaaatcaaaggaaaaaGaaaatgatttacaggtatgt	9	2	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38893972G>T	ENST00000359357.3	+	72	10707	c.10453G>T	c.(10453-10455)Gaa>Taa	p.E3485*	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E3449*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E3702*|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3485	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGGAAAAAGAAAATGATTT	0.363																																																	0													77	74	75					6																	38893972		2203	4300	6503	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10453G>T	6.37:g.38893972G>T	ENSP00000352312:p.Glu3485*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3485*	ENST00000359357.3	37	c.10453		6	.	.	.	.	.	.	.	.	.	.	G	53	20.879415	0.99935	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	6.05	5.17	0.71159	.	0.397579	0.30383	N	0.009758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	15.7548	0.78015	0.0662:0.0:0.9338:0.0	.	.	.	.	X	3690;3690;3485;3449	.	ENSP00000333363:E3690X	E	+	1	0	DNAH8	39001950	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.828000	0.48120	2.878000	0.98634	0.650000	0.86243	GAA	DNAH8	-	NULL		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38893972	1	no_errors	ENST00000359357	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38893972	G	T	38893972	4	4	131	1	0	0	0	0	0	1	0	0	4617	943	33	3	10731	3	DNAH8	6	38893972	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	12246	38893972	132221095	742	20882										
GLP1R	2740	genome.wustl.edu	37	chr6	39053697	39053697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaaggtccagctggaatttCggaagagctgggagcgctgg	18	7	0	1	rs199796313		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:39053697C>T	ENST00000373256.4	+	13	1283	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.R414W(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCTGGAATTTCGGAAGAGCTG	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)											140	143	142					6																	39053697		2203	4300	6503	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1240C>T	6.37:g.39053697C>T	ENSP00000362353:p.Arg414Trp		Q2M229|Q99669	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.R414W	ENST00000373256.4	37	c.1240	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102348	0.56183	.	.	ENSG00000112164	ENST00000373256	T	0.66460	-0.21	6.17	5.31	0.75309	.	0.000000	0.64402	D	0.000009	T	0.62159	0.2405	M	0.87381	2.88	0.50171	D	0.999851	B	0.16166	0.016	B	0.15870	0.014	T	0.67201	-0.5730	10	0.62326	D	0.03	.	15.8154	0.78595	0.0:0.9352:0.0:0.0648	.	414	P43220	GLP1R_HUMAN	W	414	ENSP00000362353:R414W	ENSP00000362353:R414W	R	+	1	2	GLP1R	39161675	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.456000	0.60081	1.633000	0.50488	-0.137000	0.14449	CGG	GLP1R	-	NULL		0.547	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	C			39053697	1	no_errors	ENST00000373256	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39053697	C	T	39053697	3	4	131	1	0	0	0	0	1	0	0	0	6471	875	31	1	1290	1	GLP1R	6	39053697	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	159725	39053697	132061370	743	20883										
KCNK5	8645	genome.wustl.edu	37	chr6	39158729	39158729	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctgttcgtaaggcacagaGagctcagactcagtgctggt	13	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:39158729G>T	ENST00000359534.3	-	5	1775	c.1437C>A	c.(1435-1437)ctC>ctA	p.L479L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	479					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AAGGCACAGAGAGCTCAGACT	0.617																																																	0													66	46	53					6																	39158729		2200	4299	6499	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1437C>A	6.37:g.39158729G>T			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.L479	ENST00000359534.3	37	c.1437	CCDS4841.1	6																																																																																			KCNK5	-	NULL		0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	G	NM_003740		39158729	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	silent	SNP	0.825	T	T	39158729	G	T	39158729	2	4	131	1	0	0	0	0	0	0	0	1	8089	929	33	3		3	KCNK5	6	39158729	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	105032	39158729	131956338	744	20884										
KCNK16	83795	genome.wustl.edu	37	chr6	39290160	39290160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgtagttctccaggaagcGcagcttctccaactgaaact	10	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:39290160G>A	ENST00000373229.5	-	1	170	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_ENST00000425054.2_Missense_Mutation_p.R53C|KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	53					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592																																																	0													73	64	67					6																	39290160		2203	4300	6503	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.157C>T	6.37:g.39290160G>A	ENSP00000362326:p.Arg53Cys		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.R53C	ENST00000373229.5	37	c.157	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562337	0.65538	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.19394	2.41;2.39;3.01;2.15	5.81	4.93	0.64822	.	0.351430	0.29609	N	0.011676	T	0.31136	0.0787	M	0.78801	2.425	0.43936	D	0.996598	D;D;D;D	0.89917	0.999;0.987;1.0;0.993	P;P;P;P	0.62184	0.642;0.827;0.899;0.786	T	0.19582	-1.0301	10	0.72032	D	0.01	.	9.8723	0.41182	0.0731:0.0:0.757:0.1699	.	53;53;53;53	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	C	53	ENSP00000362326:R53C;ENSP00000391498:R53C;ENSP00000362324:R53C;ENSP00000415375:R53C	ENSP00000362324:R53C	R	-	1	0	KCNK16	39398138	0.995000	0.38212	1.000000	0.80357	0.962000	0.63368	1.247000	0.32815	1.427000	0.47276	0.655000	0.94253	CGC	KCNK16	-	NULL		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	G	NM_032115		39290160	-1	no_errors	ENST00000425054	ensembl	human	known	70_37	missense	SNP	0.999	A	A	39290160	G	A	39290160	3	1	131	1	0	0	0	0	1	0	0	0	8083	1087	38	2	1181	2	KCNK16	6	39290160	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	131431	39290160	131824907	745	20885										
LRFN2	57497	genome.wustl.edu	37	chr6	40359788	40359788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgccgttgacagagaggctgCgcttcgtccagatgttcgag	14	10	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:40359788C>T	ENST00000338305.6	-	3	2806	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	755						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGAGGCTGCGCTTCGTCCA	0.642																																																	0													50	49	49					6																	40359788		2203	4300	6503	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2264G>A	6.37:g.40359788C>T	ENSP00000345985:p.Arg755His		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R755H	ENST00000338305.6	37	c.2264	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896043	0.91962	.	.	ENSG00000156564	ENST00000338305	T	0.66280	-0.2	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.76071	0.987	T	0.74520	-0.3638	10	0.87932	D	0	.	17.4237	0.87521	0.0:1.0:0.0:0.0	.	755	Q9ULH4	LRFN2_HUMAN	H	755	ENSP00000345985:R755H	ENSP00000345985:R755H	R	-	2	0	LRFN2	40467766	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.462000	0.83206	0.549000	0.68633	CGC	LRFN2	-	NULL		0.642	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	C	XM_166372		40359788	-1	no_errors	ENST00000338305	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40359788	C	T	40359788	3	4	131	1	0	0	0	0	1	0	0	0	8961	768	27	2	109	2	LRFN2	6	40359788	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1069628	40359788	130755279	746	20886										
SPATS1	221409	genome.wustl.edu	37	chr6	44328224	44328224	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaactctccttctcacattCtgatcactcctctgaaatgt	4	13	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:44328224C>T	ENST00000288390.2	+	3	676	c.329C>T	c.(328-330)tCt>tTt	p.S110F	SPATS1_ENST00000323108.8_Missense_Mutation_p.S110F|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	110										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTCACATTCTGATCACTCC	0.458																																																	0													157	142	147					6																	44328224		2203	4300	6503	SO:0001583	missense	221409			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.329C>T	6.37:g.44328224C>T	ENSP00000424400:p.Ser110Phe		Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	NULL	p.S110F	ENST00000288390.2	37	c.329	CCDS4911.1	6	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465419	0.43839	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.59224	0.28;0.28	5.42	5.42	0.78866	.	0.108036	0.41823	D	0.000815	T	0.64450	0.2599	M	0.62723	1.935	0.09310	N	0.999999	D	0.76494	0.999	D	0.66979	0.948	T	0.60707	-0.7210	10	0.87932	D	0	.	15.0855	0.72148	0.0:1.0:0.0:0.0	.	110	Q496A3	SPAS1_HUMAN	F	110	ENSP00000437552:S110F;ENSP00000424400:S110F	ENSP00000424400:S110F	S	+	2	0	SPATS1	44436202	0.002000	0.14202	0.066000	0.19879	0.207000	0.24258	1.279000	0.33191	2.705000	0.92388	0.591000	0.81541	TCT	SPATS1	-	NULL		0.458	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATS1	HGNC	protein_coding	OTTHUMT00000040738.2	C	NM_145026		44328224	1	no_errors	ENST00000288390	ensembl	human	known	70_37	missense	SNP	0.049	T	T	44328224	C	T	44328224	3	4	131	1	0	0	0	0	1	0	0	0	15048	913	32	1	339	1	SPATS1	6	44328224	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3968436	44328224	126786843	747	20887										
RUNX2	860	genome.wustl.edu	37	chr6	45480058	45480058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctacctgagccagatgacgtCcccgtccatccactctacca	6	18	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:45480058C>T	ENST00000371438.1	+	6	1293	c.935C>T	c.(934-936)tCc>tTc	p.S312F	RUNX2_ENST00000465038.2_Missense_Mutation_p.S312F|RUNX2_ENST00000576263.1_Missense_Mutation_p.S312F|RUNX2_ENST00000371436.6_Missense_Mutation_p.S312F|RUNX2_ENST00000541979.1_Missense_Mutation_p.S380F|RUNX2_ENST00000371432.3_Missense_Mutation_p.S298F|RUNX2_ENST00000352853.5_Missense_Mutation_p.S380F|RUNX2_ENST00000359524.5_Missense_Mutation_p.S298F	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	312	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGATGACGTCCCCGTCCATC	0.572																																																	0													123	100	108					6																	45480058		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.935C>T	6.37:g.45480058C>T	ENSP00000360493:p.Ser312Phe		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.S380F	ENST00000371438.1	37	c.1139	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	33	5.274518	0.95459	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	6.06	6.06	0.98353	.	0.095556	0.85682	D	0.000000	D	0.91071	0.7190	M	0.72894	2.215	0.80722	D	1	P;P;D	0.65815	0.704;0.774;0.995	P;B;D	0.65140	0.452;0.352;0.932	D	0.90710	0.4627	10	0.87932	D	0	-0.2548	20.6397	0.99537	0.0:1.0:0.0:0.0	.	380;312;298	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	F	312;380;380;312;312;298;298	ENSP00000420707:S312F;ENSP00000319087:S380F;ENSP00000446290:S380F;ENSP00000360493:S312F;ENSP00000360491:S312F;ENSP00000352514:S298F;ENSP00000360486:S298F	ENSP00000319087:S380F	S	+	2	0	RUNX2	45588036	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	7.447000	0.80620	2.880000	0.98712	0.650000	0.86243	TCC	RUNX2	-	NULL		0.572	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	C	NM_004348		45480058	1	no_errors	ENST00000352853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45480058	C	T	45480058	3	4	131	1	0	0	0	0	1	0	0	0	13778	855	30	1	973	1	RUNX2	6	45480058	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1151834	45480058	125635009	748	20888										
CLIC5	53405	genome.wustl.edu	37	chr6	46047901	46047901	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ataatggggactttcattttCttctggctggtctggaacct	10	8	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46047901C>A	ENST00000185206.6	-	1	231	c.79G>T	c.(79-81)Gaa>Taa	p.E27*		NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	27					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTTTCATTTTCTTCTGGCTGG	0.413																																																	0													132	110	116					6																	46047901		692	1591	2283	SO:0001587	stop_gained	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.79G>T	6.37:g.46047901C>A	ENSP00000185206:p.Glu27*		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Nonsense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.E27*	ENST00000185206.6	37	c.79	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.930437	0.97116	.	.	ENSG00000112782	ENST00000185206	.	.	.	5.1	4.21	0.49690	.	0.385798	0.26075	N	0.026499	.	.	.	.	.	.	0.24729	N	0.993106	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	10.8941	0.47012	0.1876:0.8124:0.0:0.0	.	.	.	.	X	27	.	ENSP00000185206:E27X	E	-	1	0	CLIC5	46155860	0.516000	0.26218	0.015000	0.15790	0.212000	0.24457	3.533000	0.53561	1.474000	0.48178	0.655000	0.94253	GAA	CLIC5	-	NULL		0.413	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	C			46047901	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	nonsense	SNP	0.028	A	A	46047901	C	A	46047901	4	1	131	1	0	0	0	0	0	1	0	0	3534	922	32	3	1244	3	CLIC5	6	46047901	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	567843	46047901	125067166	749	20889										
RCAN2	10231	genome.wustl.edu	37	chr6	46214590	46214590	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaggaagggggcgagatgaGaaactgtttggcaggctggg	21	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46214590G>T	ENST00000330430.6	-	3	516	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	RCAN2_ENST00000371374.1_Missense_Mutation_p.L156I|RCAN2_ENST00000405162.1_Missense_Mutation_p.L156I|RCAN2_ENST00000306764.7_Missense_Mutation_p.L156I	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	110					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCGAGATGAGAAACTGTTTG	0.522																																																	0													72	79	77					6																	46214590		1977	4145	6122	SO:0001583	missense	10231			D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"Down syndrome critical region gene 1-like 1"	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.328C>A	6.37:g.46214590G>T	ENSP00000329454:p.Leu110Ile		A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	pfam_Calcipressin	p.L156I	ENST00000330430.6	37	c.466	CCDS43469.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.146356	0.94603	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.80764	0.944;0.994	D	0.85054	0.0930	9	0.87932	D	0	-14.777	18.8222	0.92102	0.0:0.0:1.0:0.0	.	156;110	Q14206-2;Q14206	.;RCAN2_HUMAN	I	110;156;156;156	.	ENSP00000305223:L156I	L	-	1	0	RCAN2	46322549	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.378000	0.97191	2.703000	0.92315	0.585000	0.79938	CTC	RCAN2	-	pfam_Calcipressin		0.522	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN2	HGNC	protein_coding	OTTHUMT00000040782.1	G			46214590	-1	no_errors	ENST00000306764	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46214590	G	T	46214590	3	4	131	1	0	0	0	0	1	0	0	0	13199	942	33	3	273	3	RCAN2	6	46214590	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	166689	46214590	124900477	750	20890										
TDRD6	221400	genome.wustl.edu	37	chr6	46659321	46659321	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attcaaattagtgctagtatTaataagaagttggggctact	9	4	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46659321T>G	ENST00000316081.6	+	1	3456	c.3456T>G	c.(3454-3456)atT>atG	p.I1152M	TDRD6_ENST00000544460.1_Missense_Mutation_p.I1152M	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTGCTAGTATTAATAAGAAGT	0.308																																																	0													51	57	55					6																	46659321		2199	4292	6491	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3456T>G	6.37:g.46659321T>G	ENSP00000346065:p.Ile1152Met		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.I1152M	ENST00000316081.6	37	c.3456	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672128	0.29693	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.21734	1.99;2.05	5.73	-1.67	0.08238	.	0.234462	0.32401	N	0.006149	T	0.17109	0.0411	M	0.69823	2.125	0.29490	N	0.855704	D;D	0.60160	0.987;0.978	P;P	0.61477	0.889;0.777	T	0.03335	-1.1047	10	0.54805	T	0.06	-0.4362	2.619	0.04911	0.1393:0.3988:0.1477:0.3142	.	1152;1152	F5H5M3;O60522	.;TDRD6_HUMAN	M	1152	ENSP00000443299:I1152M;ENSP00000346065:I1152M	ENSP00000346065:I1152M	I	+	3	3	TDRD6	46767280	0.934000	0.31675	0.035000	0.18076	0.465000	0.32709	-0.028000	0.12350	-0.116000	0.11893	0.533000	0.62120	ATT	TDRD6	-	NULL		0.308	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	T	XM_166443		46659321	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.377	G	G	46659321	T	G	46659321	3	3	131	1	0	0	0	0	1	0	0	0	15764	1742	61	5	3458	5	TDRD6	6	46659321	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	444731	46659321	124455746	751	20891										
TDRD6	221400	genome.wustl.edu	37	chr6	46660606	46660606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtatagtaagatacagagaaGatggacattattatagggca	11	3	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46660606G>T	ENST00000316081.6	+	1	4741	c.4741G>T	c.(4741-4743)Gat>Tat	p.D1581Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1581Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1581	Tudor 7. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATACAGAGAAGATGGACATTA	0.393																																																	0													132	131	132					6																	46660606		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4741G>T	6.37:g.46660606G>T	ENSP00000346065:p.Asp1581Tyr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D1581Y	ENST00000316081.6	37	c.4741	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571783	0.86542	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.19105	2.17;2.17	5.87	5.87	0.94306	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.270012	0.36444	N	0.002586	T	0.55178	0.1904	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66476	-0.5914	10	0.87932	D	0	-28.3488	20.2033	0.98269	0.0:0.0:1.0:0.0	.	1581;1581	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1581	ENSP00000443299:D1581Y;ENSP00000346065:D1581Y	ENSP00000346065:D1581Y	D	+	1	0	TDRD6	46768565	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.254000	0.78329	2.779000	0.95612	0.655000	0.94253	GAT	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46660606	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46660606	G	T	46660606	3	4	131	1	0	0	0	0	1	0	0	0	15764	942	33	3	4743	3	TDRD6	6	46660606	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1285	46660606	124454461	752	20892										
PLA2G7	7941	genome.wustl.edu	37	chr6	46675822	46675822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaatattcagagttgataaAaaagaggggctgaggaattc	12	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46675822A>C	ENST00000274793.7	-	10	1142	c.946T>G	c.(946-948)Ttt>Gtt	p.F316V	PLA2G7_ENST00000537365.1_Missense_Mutation_p.F316V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	316					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAGTTGATAAAAAAGAGGGGC	0.348																																																	0													90	89	90					6																	46675822		2203	4300	6503	SO:0001583	missense	7941			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.946T>G	6.37:g.46675822A>C	ENSP00000274793:p.Phe316Val		A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF	p.F316V	ENST00000274793.7	37	c.946	CCDS4917.1	6	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745595	0.89663	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.57273	0.41;0.41	5.72	5.72	0.89469	.	0.049185	0.85682	D	0.000000	T	0.57125	0.2032	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53683	-0.8404	10	0.18710	T	0.47	.	15.6732	0.77295	1.0:0.0:0.0:0.0	.	316	Q13093	PAFA_HUMAN	V	316	ENSP00000274793:F316V;ENSP00000445666:F316V	ENSP00000274793:F316V	F	-	1	0	PLA2G7	46783781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.963000	0.76055	2.187000	0.69744	0.482000	0.46254	TTT	PLA2G7	-	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF		0.348	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G7	HGNC	protein_coding	OTTHUMT00000040802.1	A			46675822	-1	no_errors	ENST00000274793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46675822	A	C	46675822	3	2	131	1	0	0	0	0	1	0	0	0	12033	14	1	5	391	5	PLA2G7	6	46675822	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	15216	46675822	124439245	753	20893										
MEP1A	4224	genome.wustl.edu	37	chr6	46803277	46803277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgaacgtgaaggggatggCgagctgcaggtaggctctgt	18	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46803277C>T	ENST00000230588.4	+	13	2084	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	692	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A692E(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAGGGGATGGCGAGCTGCAGG	0.592																																																	1	Substitution - Missense(1)	lung(1)											30	25	27					6																	46803277		2202	4300	6502	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2075C>T	6.37:g.46803277C>T	ENSP00000230588:p.Ala692Val		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.A692V	ENST00000230588.4	37	c.2075	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602893	0.46423	.	.	ENSG00000112818	ENST00000230588	D	0.92299	-3.01	5.72	4.86	0.63082	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.141041	0.64402	N	0.000005	D	0.86606	0.5973	M	0.80028	2.48	0.54753	D	0.999982	B;B	0.33857	0.429;0.156	B;B	0.25614	0.062;0.044	D	0.86868	0.2034	10	0.48119	T	0.1	-13.9181	11.8202	0.52235	0.0:0.8594:0.0:0.1406	.	720;692	B7ZL91;Q16819	.;MEP1A_HUMAN	V	692	ENSP00000230588:A692V	ENSP00000230588:A692V	A	+	2	0	MEP1A	46911236	0.988000	0.35896	0.992000	0.48379	0.885000	0.51271	2.802000	0.47916	1.439000	0.47511	0.650000	0.86243	GCG	MEP1A	-	pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom		0.592	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	C	NM_005588		46803277	1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.982	T	T	46803277	C	T	46803277	3	4	131	1	0	0	0	0	1	0	0	0	9498	768	27	2	2125	2	MEP1A	6	46803277	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	127455	46803277	124311790	754	20894										
GPR111	222611	genome.wustl.edu	37	chr6	47649621	47649621	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtcacctcacatcttagaGagtctgattctgacttacat	6	10	5	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:47649621G>A	ENST00000296862.1	+	6	1326	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	GPR111_ENST00000398742.2_Silent_p.E374E|GPR111_ENST00000507065.1_Silent_p.E374E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATCTTAGAGAGTCTGATTC	0.423																																																	0													174	159	164					6																	47649621		1927	4130	6057	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1326G>A	6.37:g.47649621G>A			Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E442	ENST00000296862.1	37	c.1326		6																																																																																			GPR111	-	NULL		0.423	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47649621	1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.006	A	A	47649621	G	A	47649621	2	1	131	1	0	0	0	0	0	0	0	1	6647	933	33	1		1	GPR111	6	47649621	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	846344	47649621	123465446	755	20895										
CRISP2	7180	genome.wustl.edu	37	chr6	49663612	49663612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttccttgttggtacggggTattctttctattcatattat	8	6	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:49663612T>C	ENST00000339139.4	-	9	777	c.541A>G	c.(541-543)Acc>Gcc	p.T181A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	181					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGTACGGGGTATTCTTTCTA	0.343																																																	0													95	89	91					6																	49663612		2203	4300	6503	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.541A>G	6.37:g.49663612T>C	ENSP00000339155:p.Thr181Ala		A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T181A	ENST00000339139.4	37	c.541	CCDS4928.1	6	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236592	0.22711	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.07800	3.16	4.15	4.15	0.48705	CAP domain (2);	0.961230	0.08689	N	0.908261	T	0.04998	0.0134	M	0.75777	2.31	0.09310	N	0.999999	B;B	0.28439	0.212;0.016	B;B	0.30316	0.114;0.013	T	0.42310	-0.9459	10	0.15499	T	0.54	.	11.7861	0.52043	0.0:0.0:0.0:1.0	.	216;181	Q7Z7B2;P16562	.;CRIS2_HUMAN	A	181;216	ENSP00000339155:T181A	ENSP00000211238:T216A	T	-	1	0	CRISP2	49771571	0.003000	0.15002	0.061000	0.19648	0.581000	0.36288	1.350000	0.34010	2.101000	0.63845	0.519000	0.50382	ACC	CRISP2	-	superfamily_CAP_domain		0.343	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP2	HGNC	protein_coding	OTTHUMT00000040870.2	T	NM_003296		49663612	-1	no_errors	ENST00000339139	ensembl	human	known	70_37	missense	SNP	0.096	C	C	49663612	T	C	49663612	3	2	131	1	0	0	0	0	1	0	0	0	3885	1638	57	5	198	5	CRISP2	6	49663612	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2013991	49663612	121451455	756	20896										
FAM83B	222584	genome.wustl.edu	37	chr6	54804695	54804695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatggcacttaccagcattCggtgtcttcattagcatctg	8	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:54804695C>T	ENST00000306858.7	+	5	1042	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	309										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACCAGCATTCGGTGTCTTCA	0.433																																																	0													106	103	104					6																	54804695		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.926C>T	6.37:g.54804695C>T	ENSP00000304078:p.Ser309Leu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S309L	ENST00000306858.7	37	c.926	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457673	0.12342	.	.	ENSG00000168143	ENST00000306858	T	0.08720	3.06	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000010	T	0.06554	0.0168	M	0.73598	2.24	0.09310	N	0.999996	B	0.24721	0.11	B	0.12837	0.008	T	0.08911	-1.0699	10	0.32370	T	0.25	-8.9368	19.375	0.94505	0.0:1.0:0.0:0.0	.	309	Q5T0W9	FA83B_HUMAN	L	309	ENSP00000304078:S309L	ENSP00000304078:S309L	S	+	2	0	FAM83B	54912654	0.929000	0.31497	0.012000	0.15200	0.086000	0.17979	3.281000	0.51685	2.648000	0.89879	0.591000	0.81541	TCG	FAM83B	-	NULL		0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	C	XM_294139		54804695	1	no_errors	ENST00000306858	ensembl	human	known	70_37	missense	SNP	0.045	T	T	54804695	C	T	54804695	3	4	131	1	0	0	0	0	1	0	0	0	5652	893	31	1	940	1	FAM83B	6	54804695	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5141083	54804695	116310372	757	20897										
HCRTR2	3062	genome.wustl.edu	37	chr6	55128539	55128539	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagatgtaccacatctgtttCtttctggtgacatacatggc	8	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:55128539C>A	ENST00000370862.3	+	4	1017	c.681C>A	c.(679-681)ttC>ttA	p.F227L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	227					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.F227L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACATCTGTTTCTTTCTGGTGA	0.363																																																	1	Substitution - Missense(1)	lung(1)											135	112	120					6																	55128539		2203	4300	6503	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.681C>A	6.37:g.55128539C>A	ENSP00000359899:p.Phe227Leu		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.F227L	ENST00000370862.3	37	c.681	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028198	0.19512	.	.	ENSG00000137252	ENST00000370862	T	0.70986	-0.53	5.75	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.02736	-0.51	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.38585	-0.9654	10	0.02654	T	1	.	6.9245	0.24408	0.0:0.8048:0.0:0.1952	.	227;227	Q548Y0;O43614	.;OX2R_HUMAN	L	227	ENSP00000359899:F227L	ENSP00000359899:F227L	F	+	3	2	HCRTR2	55236498	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.310000	0.43708	2.721000	0.93114	0.603000	0.83216	TTC	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn		0.363	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	C			55128539	1	no_errors	ENST00000370862	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55128539	C	A	55128539	3	1	131	1	0	0	0	0	1	0	0	0	7022	912	32	3	695	3	HCRTR2	6	55128539	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	323844	55128539	115986528	758	20898										
BMP5	653	genome.wustl.edu	37	chr6	55739287	55739287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcgtccgagataactgtatgCgacgaggatacccattggga	12	9	0	1	rs144615410		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:55739287C>T	ENST00000370830.3	-	1	1075	c.377G>A	c.(376-378)cGc>cAc	p.R126H	BMP5_ENST00000446683.2_Missense_Mutation_p.R126H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	126					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAACTGTATGCGACGAGGATA	0.527																																																	0								C	HIS/ARG	0,4406		0,0,2203	138	120	126		377	5.1	0.9	6	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMP5	NM_021073.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	126/455	55739287	1,13005	2203	4300	6503	SO:0001583	missense	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.377G>A	6.37:g.55739287C>T	ENSP00000359866:p.Arg126His		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R126H	ENST00000370830.3	37	c.377	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584433	0.46110	0.0	1.16E-4	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72942	-0.7;-0.33	5.96	5.1	0.69264	Transforming growth factor-beta, N-terminal (1);	0.306471	0.34652	N	0.003797	T	0.33294	0.0858	N	0.08118	0	0.09310	N	0.999999	P;P	0.50272	0.933;0.864	B;B	0.40741	0.339;0.333	T	0.26608	-1.0098	10	0.59425	D	0.04	.	11.1045	0.48194	0.0:0.8599:0.0:0.1401	.	126;126	B4E0Y4;P22003	.;BMP5_HUMAN	H	126	ENSP00000359866:R126H;ENSP00000391818:R126H	ENSP00000359866:R126H	R	-	2	0	BMP5	55847246	0.917000	0.31117	0.877000	0.34402	0.983000	0.72400	1.713000	0.37951	1.533000	0.49186	0.650000	0.86243	CGC	BMP5	-	pfam_TGF-b_N		0.527	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	C			55739287	-1	no_errors	ENST00000370830	ensembl	human	known	70_37	missense	SNP	0.078	T	T	55739287	C	T	55739287	3	4	131	1	0	0	0	0	1	0	0	0	1464	768	27	2	1015	2	BMP5	6	55739287	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	610748	55739287	115375780	759	20899										
DST	667	genome.wustl.edu	37	chr6	56366458	56366458	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgattcagtctttccatttCtatctgctgttgataggcct	7	9	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56366458C>A	ENST00000361203.3	-	74	18647	c.18640G>T	c.(18640-18642)Gaa>Taa	p.E6214*	DST_ENST00000446842.2_Nonsense_Mutation_p.E5999*|DST_ENST00000421834.2_Nonsense_Mutation_p.E4237*|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.E3911*|DST_ENST00000370754.5_Nonsense_Mutation_p.E6503*|DST_ENST00000370769.4_Nonsense_Mutation_p.E6325*|DST_ENST00000370788.2_Nonsense_Mutation_p.E4128*			Q03001	DYST_HUMAN	dystonin	6214					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTCCATTTCTATCTGCTGT	0.318																																																	0													134	114	120					6																	56366458		1836	4093	5929	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18640G>T	6.37:g.56366458C>A	ENSP00000354508:p.Glu6214*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E6503*	ENST00000361203.3	37	c.19507		6	.	.	.	.	.	.	.	.	.	.	C	58	30.669692	0.99977	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.316	0.94213	0.0:1.0:0.0:0.0	.	.	.	.	X	3911;6503;6325;4237;5999;4128;6214	.	ENSP00000244364:E3911X	E	-	1	0	DST	56474417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.789000	0.85783	2.557000	0.86248	0.591000	0.81541	GAA	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56366458	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	56366458	C	A	56366458	4	1	131	1	0	0	0	0	0	1	0	0	4793	922	32	3	3884	3	DST	6	56366458	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	627171	56366458	114748609	760	20900										
DST	667	genome.wustl.edu	37	chr6	56483273	56483273	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattgatgttcatgctctttGatctgttggtccattttttg	8	6	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56483273G>T	ENST00000370765.6	-	23	5666	c.5559C>A	c.(5557-5559)atC>atA	p.I1853I	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATGCTCTTTGATCTGTTGGT	0.393																																																	0													112	112	112					6																	56483273		2203	4300	6503	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5559C>A	6.37:g.56483273G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I1853	ENST00000370765.6	37	c.5559	CCDS4959.1	6																																																																																			DST	-	NULL		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	G	NM_001723		56483273	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	silent	SNP	0.999	T	T	56483273	G	T	56483273	2	4	131	1	0	0	0	0	0	0	0	1	4793	1280	45	3		3	DST	6	56483273	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	116815	56483273	114631794	761	20901										
KIAA1586	57691	genome.wustl.edu	37	chr6	56918562	56918562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggaactgtttaaatcatcGattacaattgtcacttgatg	7	6	2	1	rs372711155		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56918562G>A	ENST00000370733.4	+	4	1472	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	KIAA1586_ENST00000545356.1_Missense_Mutation_p.R395Q	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	422							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTAAATCATCGATTACAATTG	0.264																																																	0								G	GLN/ARG	1,4399		0,1,2199	36	38	37		1265	1	1	6		37	0,8580		0,0,4290	no	missense	KIAA1586	NM_020931.2	43	0,1,6489	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	422/788	56918562	1,12979	2200	4290	6490	SO:0001583	missense	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1265G>A	6.37:g.56918562G>A	ENSP00000359768:p.Arg422Gln		A8K4M3|Q8IW25	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.R422Q	ENST00000370733.4	37	c.1265	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	g	14.69	2.609972	0.46527	2.27E-4	0.0	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.21031	2.03;2.03	3.82	1.02	0.19986	Ribonuclease H-like (1);	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.21147	N	0.999772	B;B	0.22983	0.078;0.078	B;B	0.14578	0.011;0.011	T	0.46062	-0.9218	9	0.27785	T	0.31	0.7337	6.2309	0.20734	0.3196:0.0:0.6804:0.0	.	395;422	F5H2N6;Q9HCI6	.;K1586_HUMAN	Q	422;395	ENSP00000359768:R422Q;ENSP00000445507:R395Q	ENSP00000359768:R422Q	R	+	2	0	KIAA1586	57026521	0.697000	0.27767	0.986000	0.45419	0.991000	0.79684	0.451000	0.21779	0.079000	0.16929	0.585000	0.79938	CGA	KIAA1586	-	superfamily_RNaseH-like_dom		0.264	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	G	NM_020931		56918562	1	no_errors	ENST00000370733	ensembl	human	known	70_37	missense	SNP	0.989	A	A	56918562	G	A	56918562	3	1	131	1	0	0	0	0	1	0	0	0	8265	1058	37	1	1279	1	KIAA1586	6	56918562	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	435289	56918562	114196505	762	20902										
ZNF451	26036	genome.wustl.edu	37	chr6	56993563	56993563	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcatgctcatgggttacaaGaattggaatttattcgagga	11	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56993563G>T	ENST00000370706.4	+	5	593	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E117*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E117*|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGGTTACAAGAATTGGAATT	0.353																																																	0													104	99	101					6																	56993563		2203	4300	6503	SO:0001587	stop_gained	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.349G>T	6.37:g.56993563G>T	ENSP00000359740:p.Glu117*		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E117*	ENST00000370706.4	37	c.349	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843554	0.91197	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.0894	17.0849	0.86609	0.0:0.0:1.0:0.0	.	.	.	.	X	89;117;117;117	.	ENSP00000350083:E117X	E	+	1	0	ZNF451	57101522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.107000	0.64212	0.655000	0.94253	GAA	ZNF451	-	NULL		0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	G	NM_015555		56993563	1	no_errors	ENST00000370706	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	56993563	G	T	56993563	4	4	131	1	0	0	0	0	0	1	0	0	17952	943	33	3	367	3	ZNF451	6	56993563	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	75001	56993563	114121504	763	20903										
EYS	346007	genome.wustl.edu	37	chr6	65301416	65301416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggaggcagctataagcagGaatccacgggagagtaatga	14	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:65301416G>A	ENST00000370621.3	-	26	4870	c.4344C>T	c.(4342-4344)ttC>ttT	p.F1448F	EYS_ENST00000503581.1_Silent_p.F1448F|EYS_ENST00000370616.2_Silent_p.F1448F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1448					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTATAAGCAGGAATCCACGGG	0.438																																																	0													77	74	75					6																	65301416		692	1590	2282	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4344C>T	6.37:g.65301416G>A			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F1448	ENST00000370621.3	37	c.4344		6																																																																																			EYS	-	NULL		0.438	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		65301416	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	silent	SNP	0.468	A	A	65301416	G	A	65301416	2	1	131	1	0	0	0	0	0	0	0	1	5344	1165	41	1		1	EYS	6	65301416	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8307853	65301416	105813651	764	20904										
BAI3	577	genome.wustl.edu	37	chr6	69348868	69348868	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccatgaaaaaataaaggatCttttaagaaagaatcattct	5	6	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:69348868C>A	ENST00000370598.1	+	3	1122	c.301C>A	c.(301-303)Ctt>Att	p.L101I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	101	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATAAAGGATCTTTTAAGAAA	0.308																																																	0													41	46	44					6																	69348868		2200	4297	6497	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.301C>A	6.37:g.69348868C>A	ENSP00000359630:p.Leu101Ile		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L101I	ENST00000370598.1	37	c.301	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755347	0.49362	.	.	ENSG00000135298	ENST00000370598	T	0.51071	0.72	5.32	5.32	0.75619	CUB (1);	0.183972	0.34879	N	0.003601	T	0.53802	0.1819	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.55412	-0.8145	10	0.62326	D	0.03	.	19.3677	0.94471	0.0:1.0:0.0:0.0	.	101	O60242	BAI3_HUMAN	I	101	ENSP00000359630:L101I	ENSP00000359630:L101I	L	+	1	0	BAI3	69405589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.538000	0.60650	2.634000	0.89283	0.655000	0.94253	CTT	BAI3	-	pfscan_CUB		0.308	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	C			69348868	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69348868	C	A	69348868	3	1	131	1	0	0	0	0	1	0	0	0	1301	913	32	3	303	3	BAI3	6	69348868	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4047452	69348868	101766199	765	20905										
COL19A1	1310	genome.wustl.edu	37	chr6	70856566	70856566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttagggattagatggaaatCctggagcacctggtccacgt	12	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:70856566C>T	ENST00000322773.4	+	26	1888	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P218S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	596	Collagen-like 5.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGATGGAAATCCTGGAGCACC	0.289																																																	0													38	41	40					6																	70856566		2203	4299	6502	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1786C>T	6.37:g.70856566C>T	ENSP00000316030:p.Pro596Ser		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P596S	ENST00000322773.4	37	c.1786	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607639	0.46527	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	.	0.136170	0.49916	D	0.000139	D	0.98049	0.9357	M	0.76838	2.35	0.40488	D	0.980518	D	0.69078	0.997	D	0.65323	0.934	D	0.97760	1.0220	10	0.45353	T	0.12	.	18.3144	0.90215	0.0:1.0:0.0:0.0	.	596	Q14993	COJA1_HUMAN	S	596;218	ENSP00000316030:P596S;ENSP00000377013:P218S	ENSP00000316030:P596S	P	+	1	0	COL19A1	70913287	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.447000	0.52936	2.770000	0.95276	0.655000	0.94253	CCT	COL19A1	-	pfam_Collagen		0.289	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	C			70856566	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70856566	C	T	70856566	3	4	131	1	0	0	0	0	1	0	0	0	3681	855	30	1	1884	1	COL19A1	6	70856566	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1507698	70856566	100258501	766	20906										
C6orf57	135154	genome.wustl.edu	37	chr6	71298317	71298317	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatatctcgttttccttaGaatttccagatgatgttaat	5	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:71298317G>T	ENST00000370474.3	+	3	241		c.e3-1			NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57						innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						GTTTTCCTTAGAATTTCCAGA	0.363																																																	0													54	60	58					6																	71298317		2203	4300	6503	SO:0001630	splice_region_variant	135154			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.218-1G>T	6.37:g.71298317G>T			E1P532	Splice_Site	SNP	-	e3-1	ENST00000370474.3	37	c.218-1	CCDS4972.1	6	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408928	0.62399	.	.	ENSG00000154079	ENST00000370474	.	.	.	5.76	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2408	0.48968	0.1491:0.0:0.8509:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf57	71355038	1.000000	0.71417	0.970000	0.41538	0.842000	0.47809	8.835000	0.92100	0.783000	0.33636	0.655000	0.94253	.	C6orf57	-	-		0.363	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf57	HGNC	protein_coding	OTTHUMT00000041140.1	G	NM_145267	Intron	71298317	1	no_errors	ENST00000370474	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	71298317	G	T	71298317	5	4	131	1	0	0	0	0	0	0	1	0	2371	956	33	3	227	3	C6orf57	6	71298317	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	441751	71298317	99816750	767	20907										
RIMS1	22999	genome.wustl.edu	37	chr6	72975721	72975721	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaccaactgcttgagaccaGatactagtttgcattcacca	7	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:72975721G>A	ENST00000521978.1	+	22	3367	c.3367G>A	c.(3367-3369)Gat>Aat	p.D1123N	RIMS1_ENST00000518273.1_Missense_Mutation_p.D1059N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D533N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D532N|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000425662.2_Missense_Mutation_p.D452N|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1059N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1058N|RIMS1_ENST00000264839.7_Missense_Mutation_p.D1085N|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.D518N|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1123					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTGAGACCAGATACTAGTTT	0.393																																																	0													53	48	50					6																	72975721		1853	4096	5949	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3367G>A	6.37:g.72975721G>A	ENSP00000428417:p.Asp1123Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.D1123N	ENST00000521978.1	37	c.3367	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639349	0.87760	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000349908;ENST00000264839;ENST00000518273;ENST00000520567;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420	T;T;T;T;T;T;T;T;T;T	0.19105	2.45;2.48;2.58;2.53;2.39;2.5;2.51;2.56;2.56;2.17	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.30727	0.0774	L	0.36672	1.1	0.80722	D	1	B;P;B;B;B;P;B;P;D	0.71674	0.016;0.734;0.039;0.004;0.007;0.895;0.079;0.813;0.998	B;B;B;B;B;P;B;B;D	0.78314	0.01;0.321;0.014;0.013;0.001;0.452;0.028;0.328;0.991	T	0.01262	-1.1402	10	0.45353	T	0.12	-21.2098	20.0558	0.97650	0.0:0.0:1.0:0.0	.	518;533;518;532;311;1059;312;1059;1123	B7Z3S3;E9PHF5;B7Z9Z3;E9PF48;Q5JY22;E7ERQ1;Q5JY21;C9JNW6;Q86UR5	.;.;.;.;.;.;.;.;RIMS1_HUMAN	N	1059;1085;1059;1059;1085;1059;1058;1123;532;533;452;518;284	ENSP00000430101:D1059N;ENSP00000264839:D1085N;ENSP00000430408:D1059N;ENSP00000430502:D1058N;ENSP00000428417:D1123N;ENSP00000385649:D532N;ENSP00000428328:D533N;ENSP00000411235:D452N;ENSP00000428367:D518N;ENSP00000359448:D284N	ENSP00000264839:D1085N	D	+	1	0	RIMS1	73032442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.397000	0.79903	2.742000	0.94016	0.637000	0.83480	GAT	RIMS1	-	NULL		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72975721	1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72975721	G	A	72975721	3	1	131	1	0	0	0	0	1	0	0	0	13397	942	33	1	3616	1	RIMS1	6	72975721	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1677404	72975721	98139346	768	20908										
KCNQ5	56479	genome.wustl.edu	37	chr6	73751728	73751728	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtctgcgggttgctgttgtCgatatagaggatggcaagga	17	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:73751728C>T	ENST00000370398.1	+	3	668	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R187*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	187					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R187*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGCTGTTGTCGATATAGAGG	0.428																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - Nonsense(1)	large_intestine(1)											352	319	330					6																	73751728		2203	4300	6503	SO:0001587	stop_gained	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.559C>T	6.37:g.73751728C>T	ENSP00000359425:p.Arg187*		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R187*	ENST00000370398.1	37	c.559	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.547912	0.98352	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	.	.	.	6.17	6.17	0.99709	.	0.064316	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;187;187;187;187;25;24	.	ENSP00000345055:R187X	R	+	1	2	KCNQ5	73808449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.941000	0.99782	0.655000	0.94253	CGA	KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	C	NM_019842		73751728	1	no_errors	ENST00000402622	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	73751728	C	T	73751728	4	4	131	1	0	0	0	0	0	1	0	0	8106	876	31	1	569	1	KCNQ5	6	73751728	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	776007	73751728	97363339	769	20909										
CD109	135228	genome.wustl.edu	37	chr6	74492449	74492449	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtccgaaagcattttccagaGacttggatttggctagacac	10	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:74492449G>T	ENST00000287097.5	+	18	2188	c.2076G>T	c.(2074-2076)gaG>gaT	p.E692D	CD109_ENST00000437994.2_Missense_Mutation_p.E692D|CD109_ENST00000422508.2_Missense_Mutation_p.E615D			Q6YHK3	CD109_HUMAN	CD109 molecule	692	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTTTCCAGAGACTTGGATTT	0.363																																																	0													138	130	133					6																	74492449		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2076G>T	6.37:g.74492449G>T	ENSP00000287097:p.Glu692Asp		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E692D	ENST00000287097.5	37	c.2076	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714705	0.68730	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.46451	0.87;1.13;0.89	4.58	2.77	0.32553	.	0.059800	0.64402	D	0.000003	T	0.33089	0.0851	N	0.19112	0.55	0.37620	D	0.92125	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.997;0.984	T	0.31280	-0.9949	10	0.62326	D	0.03	.	10.0175	0.42022	0.1658:0.0:0.8342:0.0	.	615;692;692	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	D	692;615;692	ENSP00000388062:E692D;ENSP00000404475:E615D;ENSP00000287097:E692D	ENSP00000287097:E692D	E	+	3	2	CD109	74549170	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.120000	0.41968	0.641000	0.30601	0.650000	0.86243	GAG	CD109	-	NULL		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	G	NM_133493		74492449	1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74492449	G	T	74492449	3	4	131	1	0	0	0	0	1	0	0	0	2968	933	33	3	2146	3	CD109	6	74492449	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	740721	74492449	96622618	770	20910										
ELOVL4	6785	genome.wustl.edu	37	chr6	80631439	80631439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaacttggttgtttttcttTctcagaataaaaaacactgt	6	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:80631439T>C	ENST00000369816.4	-	4	744	c.444A>G	c.(442-444)agA>agG	p.R148R		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	148					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGTTTTTCTTTCTCAGAATAA	0.393																																																	0													113	111	111					6																	80631439		2203	4300	6503	SO:0001819	synonymous_variant	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.444A>G	6.37:g.80631439T>C			B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Silent	SNP	pfam_GNS1_SUR4	p.R148	ENST00000369816.4	37	c.444	CCDS4992.1	6																																																																																			ELOVL4	-	pfam_GNS1_SUR4		0.393	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	T			80631439	-1	no_errors	ENST00000369816	ensembl	human	known	70_37	silent	SNP	1.000	C	C	80631439	T	C	80631439	2	2	131	1	0	0	0	0	0	0	0	1	5088	1780	62	5		5	ELOVL4	6	80631439	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6138990	80631439	90483628	771	20911										
TTK	7272	genome.wustl.edu	37	chr6	80749469	80749469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attttgtactatatgacttaCgggaaaacaccatttcagca	6	8	1	1	rs145532931		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:80749469C>T	ENST00000369798.2	+	19	2298	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y	TTK_ENST00000230510.3_Silent_p.Y728Y|TTK_ENST00000509894.1_Silent_p.Y728Y	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATATGACTTACGGGAAAACAC	0.313																																																	0								C	,	0,4406		0,0,2203	67	69	69		2184,2187	-2.5	0.4	6	dbSNP_134	69	1,8565	1.2+/-3.3	0,1,4282	no	coding-synonymous,coding-synonymous	TTK	NM_001166691.1,NM_003318.4	,	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	,	728/857,729/858	80749469	1,12971	2203	4283	6486	SO:0001819	synonymous_variant	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2187C>T	6.37:g.80749469C>T			A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y729	ENST00000369798.2	37	c.2187	CCDS4993.1	6																																																																																			TTK	-	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		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	C			80749469	1	no_errors	ENST00000369798	ensembl	human	known	70_37	silent	SNP	0.968	T	T	80749469	C	T	80749469	2	4	131	1	0	0	0	0	0	0	0	1	16751	547	19	2		2	TTK	6	80749469	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	118030	80749469	90365598	772	20912										
DOPEY1	23033	genome.wustl.edu	37	chr6	83829520	83829520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagcacaagacacagtaatCctgaagaacatgccacttac	7	11	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:83829520C>T	ENST00000349129.2	+	9	1194	c.934C>T	c.(934-936)Cct>Tct	p.P312S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.P303S|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.P303S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	312					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACACAGTAATCCTGAAGAACA	0.333																																																	0													162	153	156					6																	83829520		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.934C>T	6.37:g.83829520C>T	ENSP00000195654:p.Pro312Ser		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.P312S	ENST00000349129.2	37	c.934	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397788	0.62177	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.24538	1.97;1.86;1.85	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.02781	-1.1111	10	0.07813	T	0.8	.	17.5333	0.87820	0.0:1.0:0.0:0.0	.	303;312	B2RWN9;Q5JWR5	.;DOP1_HUMAN	S	312;303;303	ENSP00000195654:P312S;ENSP00000237163:P303S;ENSP00000358754:P303S	ENSP00000237163:P303S	P	+	1	0	DOPEY1	83886239	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.356000	0.79445	2.214000	0.71695	0.650000	0.86243	CCT	DOPEY1	-	superfamily_ARM-type_fold		0.333	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83829520	1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83829520	C	T	83829520	3	4	131	1	0	0	0	0	1	0	0	0	4717	855	30	1	960	1	DOPEY1	6	83829520	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3080051	83829520	87285547	773	20913										
ME1	4199	genome.wustl.edu	37	chr6	83933564	83933564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caactccagggaacacatagGaattgttgccttggccagga	11	10	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:83933564G>T	ENST00000369705.3	-	12	1480	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	ME1_ENST00000543031.1_Missense_Mutation_p.S380Y|ME1_ENST00000541327.1_Missense_Mutation_p.S289Y	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	455					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		GAACACATAGGAATTGTTGCC	0.453																																																	0													109	94	99					6																	83933564		2203	4300	6503	SO:0001583	missense	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1364C>A	6.37:g.83933564G>T	ENSP00000358719:p.Ser455Tyr		B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.S455Y	ENST00000369705.3	37	c.1364	CCDS34492.1	6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009247	0.93346	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.056142	0.64402	D	0.000001	T	0.59985	0.2234	M	0.90483	3.12	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.67780	-0.5582	10	0.87932	D	0	-9.9161	20.0589	0.97667	0.0:0.0:1.0:0.0	.	455	P48163	MAOX_HUMAN	Y	455;115;289;380	ENSP00000358719:S455Y;ENSP00000439912:S289Y;ENSP00000446114:S380Y	ENSP00000358719:S455Y	S	-	2	0	ME1	83990283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.835000	0.99442	2.732000	0.93576	0.650000	0.86243	TCC	ME1	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd		0.453	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME1	HGNC	protein_coding	OTTHUMT00000041350.1	G			83933564	-1	no_errors	ENST00000369705	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83933564	G	T	83933564	3	4	131	1	0	0	0	0	1	0	0	0	9440	1174	41	3	366	3	ME1	6	83933564	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	104044	83933564	87181503	774	20914										
SNAP91	9892	genome.wustl.edu	37	chr6	84417533	84417533	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttacagtccaggtgctttttCttggggcccattacttcatg	9	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:84417533C>A	ENST00000439399.2	-	2	430	c.114G>T	c.(112-114)aaG>aaT	p.K38N	SNAP91_ENST00000195649.6_Missense_Mutation_p.K38N|SNAP91_ENST00000437520.1_Missense_Mutation_p.K38N|SNAP91_ENST00000520213.1_Missense_Mutation_p.K38N|SNAP91_ENST00000521743.1_Missense_Mutation_p.K38N|SNAP91_ENST00000369694.2_Missense_Mutation_p.K38N|SNAP91_ENST00000521485.1_Missense_Mutation_p.K38N|SNAP91_ENST00000428679.2_Missense_Mutation_p.K38N|SNAP91_ENST00000520302.1_Missense_Mutation_p.K38N	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	38	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGTGCTTTTTCTTGGGGCCCA	0.572																																																	0													134	137	136					6																	84417533		2037	4235	6272	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.114G>T	6.37:g.84417533C>A	ENSP00000400459:p.Lys38Asn		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.K38N	ENST00000439399.2	37	c.114	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552394	0.86127	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.39	5.39	0.77823	.	0.042640	0.85682	D	0.000000	T	0.66177	0.2763	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	T	0.78425	-0.2209	10	0.87932	D	0	-7.6349	19.1613	0.93533	0.0:1.0:0.0:0.0	.	38;38;38	O60641-3;E5RI02;E1P549	.;.;.	N	38	ENSP00000429776:K38N;ENSP00000358708:K38N;ENSP00000400459:K38N;ENSP00000195649:K38N;ENSP00000412492:K38N;ENSP00000413277:K38N;ENSP00000428511:K38N;ENSP00000428215:K38N;ENSP00000428026:K38N;ENSP00000430071:K38N;ENSP00000429429:K38N;ENSP00000430441:K38N;ENSP00000358704:K38N;ENSP00000427959:K38N;ENSP00000431055:K38N	ENSP00000195649:K38N	K	-	3	2	SNAP91	84474252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.008000	0.70739	2.528000	0.85240	0.561000	0.74099	AAG	SNAP91	-	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N		0.572	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84417533	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84417533	C	A	84417533	3	1	131	1	0	0	0	0	1	0	0	0	14863	912	32	3	2717	3	SNAP91	6	84417533	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	483969	84417533	86697534	775	20915										
KIAA1009	22832	genome.wustl.edu	37	chr6	84836151	84836151	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttccatctgcttaattttCttttctaagcccacgaaatg	4	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:84836151C>A	ENST00000403245.3	-	26	4065	c.3951G>T	c.(3949-3951)aaG>aaT	p.K1317N	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.K1241N	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCTTAATTTTCTTTTCTAAGC	0.318																																																	0													168	149	155					6																	84836151		2201	4298	6499	SO:0001583	missense	22832																														ENST00000403245.3:c.3951G>T	6.37:g.84836151C>A	ENSP00000385215:p.Lys1317Asn			Missense_Mutation	SNP	NULL	p.K1317N	ENST00000403245.3	37	c.3951	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736060	0.30774	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.18960	2.18;2.18	5.24	4.37	0.52481	.	0.310564	0.34676	N	0.003778	T	0.06096	0.0158	L	0.50333	1.59	0.27674	N	0.946668	B	0.26258	0.145	B	0.28465	0.09	T	0.33574	-0.9863	10	0.15066	T	0.55	-12.7644	5.7318	0.18045	0.158:0.6798:0.0:0.1623	.	1317	Q5TB80	QN1_HUMAN	N	1241;1317	ENSP00000257766:K1241N;ENSP00000385215:K1317N	ENSP00000257766:K1241N	K	-	3	2	KIAA1009	84892870	0.994000	0.37717	1.000000	0.80357	0.923000	0.55619	0.356000	0.20181	1.195000	0.43115	0.655000	0.94253	AAG	KIAA1009	-	NULL		0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84836151	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84836151	C	A	84836151	3	1	131	1	0	0	0	0	1	0	0	0	8223	912	32	3	268	3	KIAA1009	6	84836151	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	418618	84836151	86278916	776	20916										
SNX14	57231	genome.wustl.edu	37	chr6	86267721	86267721	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctggctttaactatcacttCtatatgcttcattgctgctt	5	10	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:86267721C>A	ENST00000314673.3	-	7	783	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	SNX14_ENST00000346348.3_Nonsense_Mutation_p.E159*|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Nonsense_Mutation_p.E151*|SNX14_ENST00000513865.1_Nonsense_Mutation_p.E203*|SNX14_ENST00000369627.2_Nonsense_Mutation_p.E203*	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	203	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTATCACTTCTATATGCTTC	0.269																																																	0													138	138	138					6																	86267721		2201	4296	6497	SO:0001587	stop_gained	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.607G>T	6.37:g.86267721C>A	ENSP00000313121:p.Glu203*		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Nonsense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E203*	ENST00000314673.3	37	c.607	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.379554	0.97520	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338;ENST00000514419	.	.	.	5.48	5.48	0.80851	.	0.099920	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.4532	17.8914	0.88874	0.0:1.0:0.0:0.0	.	.	.	.	X	159;203;203;151;203;130;107;202	.	ENSP00000313121:E203X	E	-	1	0	SNX14	86324440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.722000	0.93159	0.655000	0.94253	GAA	SNX14	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc		0.269	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	C	NM_153816		86267721	-1	no_errors	ENST00000314673	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	86267721	C	A	86267721	4	1	131	1	0	0	0	0	0	1	0	0	14915	922	32	3	2325	3	SNX14	6	86267721	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1431570	86267721	84847346	777	20917										
RNGTT	8732	genome.wustl.edu	37	chr6	89616098	89616098	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatacctccaatccattttCtccaccaaaaaggcacatat	2	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:89616098C>A	ENST00000369485.4	-	5	615	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RNGTT_ENST00000369475.3_Missense_Mutation_p.E143D|RNGTT_ENST00000265607.6_Missense_Mutation_p.E143D|RNGTT_ENST00000538899.1_Missense_Mutation_p.E83D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	143	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		AATCCATTTTCTCCACCAAAA	0.299																																																	0													62	57	59					6																	89616098		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.429G>T	6.37:g.89616098C>A	ENSP00000358497:p.Glu143Asp		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.E143D	ENST00000369485.4	37	c.429	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485795	0.63962	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.6	3.78	0.43462	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	M	0.68317	2.08	0.80722	D	1	D;P;P;P	0.76494	0.999;0.609;0.554;0.609	D;P;B;P	0.70716	0.97;0.463;0.333;0.463	D	0.86884	0.2044	10	0.42905	T	0.14	.	11.7335	0.51752	0.0:0.8527:0.0:0.1473	.	83;143;143;143	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	D	143;143;83;114;143	ENSP00000358497:E143D;ENSP00000265607:E143D;ENSP00000442609:E83D;ENSP00000358487:E143D	ENSP00000265607:E143D	E	-	3	2	RNGTT	89672817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.430000	0.44766	1.335000	0.45486	0.655000	0.94253	GAG	RNGTT	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase		0.299	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	C			89616098	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89616098	C	A	89616098	3	1	131	1	0	0	0	0	1	0	0	0	13533	912	32	3	1412	3	RNGTT	6	89616098	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3348377	89616098	81498969	778	20918										
SFRS13B	135295	genome.wustl.edu	37	chr6	89808347	89808347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agatctggaatgtgaccgaaAatgagaatgctttgctgttt	11	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:89808347A>C	ENST00000452027.2	-	5	929	c.736T>G	c.(736-738)Ttt>Gtt	p.F246V		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	246	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGTGACCGAAAATGAGAATGC	0.388																																																	0													170	162	165					6																	89808347		1906	4121	6027	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.736T>G	6.37:g.89808347A>C	ENSP00000414302:p.Phe246Val		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F246V	ENST00000452027.2	37	c.736	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234200	0.22626	.	.	ENSG00000154548	ENST00000452027	T	0.05925	3.37	4.57	3.37	0.38596	.	0.656922	0.14551	N	0.312651	T	0.01421	0.0046	N	0.22421	0.69	0.23577	N	0.997371	B	0.09022	0.002	B	0.12156	0.007	T	0.46527	-0.9185	10	0.17369	T	0.5	.	10.2283	0.43238	0.9173:0.0:0.0827:0.0	.	246	Q8WXF0	SRS12_HUMAN	V	246	ENSP00000414302:F246V	ENSP00000414302:F246V	F	-	1	0	SRSF12	89865066	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	3.533000	0.53561	1.036000	0.39998	0.482000	0.46254	TTT	SRSF12	-	NULL		0.388	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	A	NM_080743		89808347	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89808347	A	C	89808347	3	2	131	1	0	0	0	0	1	0	0	0	14199	14	1	5	53	5	SFRS13B	6	89808347	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	192249	89808347	81306720	779	20919										
GABRR1	2569	genome.wustl.edu	37	chr6	89888707	89888707	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcatgtagttgtccaggtCattcacctccccatcactgt	8	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:89888707C>A	ENST00000454853.2	-	10	1332	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	GABRR1_ENST00000369451.3_Missense_Mutation_p.D321Y|GABRR1_ENST00000435811.1_Missense_Mutation_p.D391Y	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	408					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTGTCCAGGTCATTCACCTCC	0.567																																																	0													143	125	131					6																	89888707		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1222G>T	6.37:g.89888707C>A	ENSP00000412673:p.Asp408Tyr		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.D408Y	ENST00000454853.2	37	c.1222	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550661	0.27739	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.83335	-1.71;-1.71;-1.71	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.259551	0.45361	D	0.000364	T	0.79143	0.4396	L	0.29908	0.895	0.40086	D	0.976197	B;P	0.46578	0.315;0.88	B;P	0.59171	0.207;0.853	T	0.78168	-0.2309	9	.	.	.	-26.5156	12.9894	0.58610	0.0:0.9264:0.0:0.0736	.	391;408	P24046-2;P24046	.;GBRR1_HUMAN	Y	408;391;321;321	ENSP00000412673:D408Y;ENSP00000394687:D391Y;ENSP00000358463:D321Y	.	D	-	1	0	GABRR1	89945426	0.997000	0.39634	0.991000	0.47740	0.022000	0.10575	2.588000	0.46137	2.646000	0.89796	0.655000	0.94253	GAC	GABRR1	-	superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.567	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	C			89888707	-1	no_errors	ENST00000454853	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89888707	C	A	89888707	3	1	131	1	0	0	0	0	1	0	0	0	6194	826	29	3	221	3	GABRR1	6	89888707	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	80360	89888707	81226360	780	20920										
MDN1	23195	genome.wustl.edu	37	chr6	90394655	90394655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggcctggacccggtcaaaGaattgcttgtaataatggta	11	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:90394655G>T	ENST00000369393.3	-	71	11884	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403																																																	0													56	59	58					6																	90394655		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11769C>A	6.37:g.90394655G>T	ENSP00000358400:p.Phe3923Leu		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.F3923L	ENST00000369393.3	37	c.11769	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178668	0.57692	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.56941	0.43;0.43	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.84433	2.695	0.45914	D	0.998751	D	0.69078	0.997	D	0.75020	0.985	T	0.71846	-0.4469	10	0.72032	D	0.01	.	9.0164	0.36173	0.2127:0.0:0.7873:0.0	.	3923	Q9NU22	MDN1_HUMAN	L	3923	ENSP00000358400:F3923L;ENSP00000413970:F3923L	ENSP00000358400:F3923L	F	-	3	2	MDN1	90451376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	1.463000	0.47967	0.655000	0.94253	TTC	MDN1	-	pirsf_Midasin		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90394655	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90394655	G	T	90394655	3	4	131	1	0	0	0	0	1	0	0	0	9438	933	33	3	5149	3	MDN1	6	90394655	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	505948	90394655	80720412	781	20921										
CASP8AP2	9994	genome.wustl.edu	37	chr6	90572018	90572018	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatagcacttcactgccaaAtctggaaaaggaaggaaaac	8	9	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:90572018A>C	ENST00000551025.1	+	0	2027									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCACTGCCAAATCTGGAAAAG	0.373																																					Colon(187;1656 2025 17045 31481 39901)												0													199	185	190					6																	90572018		1892	4111	6003			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572018A>C				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.373	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		A	NM_001137667		90572018	1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.005	C	C	90572018	A	C	90572018	1	2	131	0	1	0	0	0	0	0	0	0	2683	101	4	5		5	CASP8AP2	6	90572018	RNA	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	177363	90572018	80543049	782	20922										
ASCC3	10973	genome.wustl.edu	37	chr6	101248365	101248365	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttagcattttctcctaaaAtttttttacaattgtctaag	4	6	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:101248365A>T	ENST00000369162.2	-	6	1282	c.938T>A	c.(937-939)aTt>aAt	p.I313N	ASCC3_ENST00000522650.1_Missense_Mutation_p.I313N	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	313					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I313N(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCTCCTAAAATTTTTTTACA	0.303																																																	1	Substitution - Missense(1)	large_intestine(1)											46	44	45					6																	101248365		2200	4298	6498	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.938T>A	6.37:g.101248365A>T	ENSP00000358159:p.Ile313Asn		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I313N	ENST00000369162.2	37	c.938	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457177	0.26161	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	.	0.467407	0.22701	N	0.056693	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09840	-1.0656	10	0.17369	T	0.5	.	15.6243	0.76840	1.0:0.0:0.0:0.0	.	313;313	E7EW23;Q8N3C0	.;HELC1_HUMAN	N	313	ENSP00000358159:I313N;ENSP00000430769:I313N	ENSP00000358159:I313N	I	-	2	0	ASCC3	101355086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.640000	0.54350	2.091000	0.63221	0.459000	0.35465	ATT	ASCC3	-	NULL		0.303	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	A	NM_006828		101248365	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101248365	A	T	101248365	3	4	131	1	0	0	0	0	1	0	0	0	1034	101	4	5	5818	5	ASCC3	6	101248365	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	10676347	101248365	69866702	783	20923										
PREP	5550	genome.wustl.edu	37	chr6	105736680	105736680	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagccgccatagccatataaGaaagctggatgagagccatc	10	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:105736680G>T	ENST00000369110.3	-	11	1599	c.1407C>A	c.(1405-1407)ttC>ttA	p.F469L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	469					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCATATAAGAAAGCTGGAT	0.408																																																	0													111	110	110					6																	105736680		2203	4300	6503	SO:0001583	missense	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1407C>A	6.37:g.105736680G>T	ENSP00000358106:p.Phe469Leu		Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.F469L	ENST00000369110.3	37	c.1407	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	G	7.153	0.584208	0.13749	.	.	ENSG00000085377	ENST00000369110	T	0.20598	2.06	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00140	-2.01	0.58432	D	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.47222	-0.9134	10	0.02654	T	1	-26.5211	10.6394	0.45584	0.1455:0.0:0.8545:0.0	.	469	P48147	PPCE_HUMAN	L	469	ENSP00000358106:F469L	ENSP00000358106:F469L	F	-	3	2	PREP	105843373	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	3.928000	0.56506	1.414000	0.47017	0.555000	0.69702	TTC	PREP	-	prints_Peptidase_S9A		0.408	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	G			105736680	-1	no_errors	ENST00000369110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105736680	G	T	105736680	3	4	131	1	0	0	0	0	1	0	0	0	12501	933	33	3	745	3	PREP	6	105736680	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4488315	105736680	65378387	784	20924										
RTN4IP1	84816	genome.wustl.edu	37	chr6	107076841	107076841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggacaactttgcttctccagAagcaaaccgcagtgcatgca	9	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:107076841A>G	ENST00000369063.3	-	1	521	c.56T>C	c.(55-57)tTc>tCc	p.F19S	QRSL1_ENST00000369044.1_5'Flank|RTN4IP1_ENST00000539449.1_Missense_Mutation_p.F19S|QRSL1_ENST00000369046.4_5'Flank	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	19						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GCTTCTCCAGAAGCAAACCGC	0.423																																																	0													86	82	84					6																	107076841		2203	4300	6503	SO:0001583	missense	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.56T>C	6.37:g.107076841A>G	ENSP00000358059:p.Phe19Ser		Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.F19S	ENST00000369063.3	37	c.56	CCDS5056.1	6	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329935	0.41297	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.43294	0.95;1.99	5.85	3.09	0.35607	.	1.168600	0.05611	N	0.578093	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.01;0.008	B;B	0.21151	0.033;0.01	T	0.27872	-1.0061	10	0.13853	T	0.58	-2.5644	5.8045	0.18432	0.7322:0.172:0.0958:0.0	.	19;19	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	S	19	ENSP00000444261:F19S;ENSP00000358059:F19S	ENSP00000358059:F19S	F	-	2	0	RTN4IP1	107183534	0.998000	0.40836	0.971000	0.41717	0.964000	0.63967	1.989000	0.40707	1.005000	0.39183	0.533000	0.62120	TTC	RTN4IP1	-	NULL		0.423	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	A			107076841	-1	no_errors	ENST00000369063	ensembl	human	known	70_37	missense	SNP	0.278	G	G	107076841	A	G	107076841	3	3	131	1	0	0	0	0	1	0	0	0	13759	246	9	5	1170	5	RTN4IP1	6	107076841	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1340161	107076841	64038226	785	20925										
SCML4	256380	genome.wustl.edu	37	chr6	108070974	108070974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgggctctggggtactccgcGgaggtgagagggctaaggga	20	8	1	1	rs112676572		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:108070974G>A	ENST00000369020.3	-	3	445	c.200C>T	c.(199-201)cCg>cTg	p.P67L	SCML4_ENST00000369022.2_Missense_Mutation_p.P9L|SCML4_ENST00000369021.3_Missense_Mutation_p.P38L	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGTACTCCGCGGAGGTGAGAG	0.582																																																	0													75	78	77					6																	108070974		2203	4300	6503	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.200C>T	6.37:g.108070974G>A	ENSP00000358016:p.Pro67Leu		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.P38L	ENST00000369020.3	37	c.113	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965418	0.53507	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.56444	0.65;0.85;0.46;0.61	5.31	4.39	0.52855	.	0.847854	0.10570	N	0.659260	T	0.59266	0.2181	M	0.64997	1.995	0.80722	D	1	B;P;D	0.89917	0.195;0.953;1.0	B;B;D	0.97110	0.019;0.259;1.0	T	0.53387	-0.8446	10	0.30854	T	0.27	.	12.9546	0.58418	0.083:0.0:0.917:0.0	.	67;67;38	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	L	9;67;38;38	ENSP00000358018:P9L;ENSP00000358016:P67L;ENSP00000358017:P38L;ENSP00000404688:P38L	ENSP00000358016:P67L	P	-	2	0	SCML4	108177667	1.000000	0.71417	0.702000	0.30337	0.021000	0.10359	7.559000	0.82265	1.117000	0.41842	-0.345000	0.07892	CCG	SCML4	-	NULL		0.582	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3	G	XM_171128		108070974	-1	no_errors	ENST00000369021	ensembl	human	known	70_37	missense	SNP	0.998	A	A	108070974	G	A	108070974	3	1	131	1	0	0	0	0	1	0	0	0	13941	1116	39	2	1068	2	SCML4	6	108070974	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	994133	108070974	63044093	786	20926										
SEC63	11231	genome.wustl.edu	37	chr6	108202401	108202401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgttatttttgatttggtTtccaatagagctctctcttt	7	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:108202401T>G	ENST00000369002.4	-	18	2066	c.1887A>C	c.(1885-1887)gaA>gaC	p.E629D		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	629					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTGATTTGGTTTCCAATAGAG	0.333																																																	0													229	223	225					6																	108202401		2202	4300	6502	SO:0001583	missense	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1887A>C	6.37:g.108202401T>G	ENSP00000357998:p.Glu629Asp		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.E629D	ENST00000369002.4	37	c.1887	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106582	0.77096	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.64085	-0.08	5.42	4.26	0.50523	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	L	0.55990	1.75	0.58432	D	0.999994	D;D	0.69078	0.997;0.984	D;D	0.68192	0.934;0.956	T	0.67925	-0.5544	10	0.66056	D	0.02	-21.7613	10.4472	0.44501	0.0:0.0778:0.0:0.9222	.	629;629	Q9UGP8;B3KQF0	SEC63_HUMAN;.	D	629;247	ENSP00000357998:E629D	ENSP00000357998:E629D	E	-	3	2	SEC63	108309094	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.469000	0.35343	0.918000	0.36919	0.477000	0.44152	GAA	SEC63	-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom		0.333	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	T	NM_007214		108202401	-1	no_errors	ENST00000369002	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108202401	T	G	108202401	3	3	131	1	0	0	0	0	1	0	0	0	14035	1838	64	5	411	5	SEC63	6	108202401	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	131427	108202401	62912666	787	20927										
NR2E1	7101	genome.wustl.edu	37	chr6	108508606	108508606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaagtgtttttcaaaaaaaCcatcggcaatgtgccaatta	7	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:108508606C>A	ENST00000368986.4	+	9	1805	c.1097C>A	c.(1096-1098)aCc>aAc	p.T366N	NR2E1_ENST00000368983.3_Missense_Mutation_p.T403N	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	366	Required for transcriptional repression. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTCAAAAAAACCATCGGCAAT	0.403																																																	0													162	156	158					6																	108508606		2203	4300	6503	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.1097C>A	6.37:g.108508606C>A	ENSP00000357982:p.Thr366Asn		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.T366N	ENST00000368986.4	37	c.1097	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898853	0.52227	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96885	-4.16;-4.16	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.64997	1.995	0.80722	D	1	B	0.24618	0.107	B	0.31614	0.133	D	0.92008	0.5616	10	0.54805	T	0.06	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	366	Q9Y466	NR2E1_HUMAN	N	366;403	ENSP00000357982:T366N;ENSP00000357979:T403N	ENSP00000357979:T403N	T	+	2	0	NR2E1	108615299	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.716000	0.92895	0.655000	0.94253	ACC	NR2E1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.403	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	C			108508606	1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108508606	C	A	108508606	3	1	131	1	0	0	0	0	1	0	0	0	10649	507	18	4	1131	4	NR2E1	6	108508606	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	306205	108508606	62606461	788	20928										
AKD1	221264	genome.wustl.edu	37	chr6	109819063	109819063	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccgcacacttagggaatcGactcttcagctctgacagtg	9	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:109819063G>A	ENST00000424296.2	-	37	5228	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1718					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTAGGGAATCGACTCTTCAGC	0.498																																																	0													150	140	144					6																	109819063		2203	4300	6503	SO:0001587	stop_gained	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5152C>T	6.37:g.109819063G>A	ENSP00000410186:p.Arg1718*		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.R1718*	ENST00000424296.2	37	c.5152	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.456642|10.456642	0.99408|0.99408	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000490722	.|.	.|.	.|.	5.55|5.55	2.51|2.51	0.30379|0.30379	.|.	0.171581|.	0.48767|.	D|.	0.000174|.	.|T	.|0.15046	.|0.0363	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21280	.|-1.0250	.|4	.|.	.|.	.|.	.|.	6.5554|6.5554	0.22458|0.22458	0.0974:0.0:0.2943:0.6083|0.0974:0.0:0.2943:0.6083	.|.	.|.	.|.	.|.	X|L	1718|118	.|.	.|.	R|S	-|-	1|2	2|0	AKD1|AKD1	109925756|109925756	0.004000|0.004000	0.15560|0.15560	0.009000|0.009000	0.14445|0.14445	0.921000|0.921000	0.55340|0.55340	1.297000|1.297000	0.33400|0.33400	0.639000|0.639000	0.30564|0.30564	0.561000|0.561000	0.74099|0.74099	CGA|TCG	AKD1	-	NULL		0.498	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		G	NM_001145128		109819063	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	109819063	G	A	109819063	4	1	131	1	0	0	0	0	0	1	0	0	460	1066	37	1	603	1	AKD1	6	109819063	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1310457	109819063	61296004	789	20929										
GTF3C6	112495	genome.wustl.edu	37	chr6	111283616	111283616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgatacagaaggcaataataAaacagtgctaaaatataaat	6	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:111283616A>C	ENST00000329970.7	+	5	479	c.269A>C	c.(268-270)aAa>aCa	p.K90T	GTF3C6_ENST00000480191.1_3'UTR|snoU13_ENST00000458794.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	90					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GGCAATAATAAAACAGTGCTA	0.348																																																	0													76	71	73					6																	111283616		2203	4300	6503	SO:0001583	missense	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.269A>C	6.37:g.111283616A>C	ENSP00000357863:p.Lys90Thr		Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.K90T	ENST00000329970.7	37	c.269	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	a	14.15	2.450963	0.43531	.	.	ENSG00000155115	ENST00000329970	.	.	.	4.74	3.57	0.40892	.	0.272209	0.41823	D	0.000820	T	0.49457	0.1558	M	0.76574	2.34	0.37337	D	0.910243	D	0.54207	0.965	P	0.48114	0.567	T	0.54794	-0.8240	9	0.49607	T	0.09	-1.4643	10.3251	0.43787	0.9203:0.0:0.0797:0.0	.	90	Q969F1	TF3C6_HUMAN	T	90	.	ENSP00000357863:K90T	K	+	2	0	GTF3C6	111390309	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.992000	0.40737	0.785000	0.33685	0.456000	0.33151	AAA	GTF3C6	-	NULL		0.348	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	A	NM_138408		111283616	1	no_errors	ENST00000329970	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111283616	A	C	111283616	3	2	131	1	0	0	0	0	1	0	0	0	6897	14	1	5	287	5	GTF3C6	6	111283616	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1464553	111283616	59831451	790	20930										
FRK	2444	genome.wustl.edu	37	chr6	116263652	116263652	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaagtttccaacgcagtgtCtcaaatgtaggtcgttcctt	8	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116263652C>A	ENST00000606080.1	-	8	1889	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	FRK_ENST00000538210.1_Missense_Mutation_p.E339D	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AACGCAGTGTCTCAAATGTAG	0.378																																																	0													145	137	140					6																	116263652		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1443G>T	6.37:g.116263652C>A	ENSP00000476145:p.Glu481Asp		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E481D	ENST00000606080.1	37	c.1443	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476882	0.26511	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82984	-1.67;-1.67	5.59	1.57	0.23409	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	T	0.68091	0.2963	N	0.16066	0.365	0.58432	D	0.999995	D	0.58970	0.984	P	0.60886	0.88	T	0.68622	-0.5360	10	0.40728	T	0.16	.	5.6715	0.17725	0.0:0.5199:0.13:0.3501	.	481	P42685	FRK_HUMAN	D	481;339	ENSP00000357615:E481D;ENSP00000443075:E339D	ENSP00000357615:E481D	E	-	3	2	FRK	116370345	0.908000	0.30866	0.998000	0.56505	0.160000	0.22226	0.678000	0.25277	0.743000	0.32719	0.591000	0.81541	GAG	FRK	-	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,pfscan_Prot_kinase_cat_dom		0.378	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	C	NM_002031		116263652	-1	no_errors	ENST00000368626	ensembl	human	known	70_37	missense	SNP	0.998	A	A	116263652	C	A	116263652	3	1	131	1	0	0	0	0	1	0	0	0	6066	912	32	3	78	3	FRK	6	116263652	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4980036	116263652	54851415	791	20931										
FRK	2444	genome.wustl.edu	37	chr6	116325055	116325055	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttacctgaaagagagaattCtcctttttggctttcacttt	6	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116325055C>A	ENST00000606080.1	-	2	897	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	151	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGAGAGAATTCTCCTTTTTGG	0.388																																																	0													99	89	93					6																	116325055		2203	4300	6503	SO:0001587	stop_gained	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.451G>T	6.37:g.116325055C>A	ENSP00000476145:p.Glu151*		B4DY49|Q13128|Q9NTR5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E151*	ENST00000606080.1	37	c.451	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.595556	0.98381	.	.	ENSG00000111816	ENST00000368626	.	.	.	5.97	3.27	0.37495	.	0.771801	0.11657	N	0.542246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	12.8043	0.57605	0.0:0.8464:0.0:0.1536	.	.	.	.	X	151	.	ENSP00000357615:E151X	E	-	1	0	FRK	116431748	0.942000	0.31987	0.320000	0.25306	0.692000	0.40212	0.935000	0.28924	0.435000	0.26365	0.655000	0.94253	GAA	FRK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	C	NM_002031		116325055	-1	no_errors	ENST00000368626	ensembl	human	known	70_37	nonsense	SNP	0.976	A	A	116325055	C	A	116325055	4	1	131	1	0	0	0	0	0	1	0	0	6066	922	32	3	1094	3	FRK	6	116325055	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	61403	116325055	54790012	792	20932										
TSPYL4	23270	genome.wustl.edu	37	chr6	116574447	116574447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctggataatgaaacttctgCgctgcatgtggagccttcgc	11	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116574447C>T	ENST00000420283.1	-	1	814	c.725G>A	c.(724-726)cGc>cAc	p.R242H	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	242					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R242H(1)		endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GAAACTTCTGCGCTGCATGTG	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											34	35	35					6																	116574447		1975	4180	6155	SO:0001583	missense	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.725G>A	6.37:g.116574447C>T	ENSP00000410943:p.Arg242His		B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.R242H	ENST00000420283.1	37	c.725	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301886	0.81136	.	.	ENSG00000187189	ENST00000420283	T	0.27104	1.69	3.98	3.98	0.46160	.	.	.	.	.	T	0.32255	0.0823	M	0.79475	2.455	0.32472	N	0.542668	D	0.56968	0.978	P	0.59643	0.861	T	0.16630	-1.0396	9	0.52906	T	0.07	-10.2817	7.7625	0.28961	0.0:0.8905:0.0:0.1095	.	242	Q9UJ04	TSYL4_HUMAN	H	242	ENSP00000410943:R242H	ENSP00000410943:R242H	R	-	2	0	TSPYL4	116681140	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.321000	0.33678	2.514000	0.84764	0.462000	0.41574	CGC	TSPYL4	-	pfam_NAP_family		0.517	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	C			116574447	-1	no_errors	ENST00000420283	ensembl	human	known	70_37	missense	SNP	0.998	T	T	116574447	C	T	116574447	3	4	131	1	0	0	0	0	1	0	0	0	16692	768	27	2	523	2	TSPYL4	6	116574447	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	249392	116574447	54540620	793	20933										
FAM26E	254228	genome.wustl.edu	37	chr6	116832890	116832890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcagggcattttaaaattcTtccttaatcagaaaactgtt	5	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116832890T>G	ENST00000368599.3	+	1	82	c.31T>G	c.(31-33)Ttc>Gtc	p.F11V	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	11					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTAAAATTCTTCCTTAATCA	0.483																																																	0													104	108	106					6																	116832890		2203	4300	6503	SO:0001583	missense	254228			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.31T>G	6.37:g.116832890T>G	ENSP00000357588:p.Phe11Val		B2RDJ9|B3KSR3	Missense_Mutation	SNP	NULL	p.F11V	ENST00000368599.3	37	c.31	CCDS5108.1	6	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611315	0.28712	.	.	ENSG00000178033	ENST00000368599	T	0.17691	2.26	5.63	-4.28	0.03732	.	0.347388	0.37857	N	0.001914	T	0.03827	0.0108	L	0.48642	1.525	0.53005	D	0.999965	B	0.06786	0.001	B	0.08055	0.003	T	0.29701	-1.0003	10	0.30854	T	0.27	-4.93	4.6635	0.12653	0.3082:0.2628:0.0:0.429	.	11	Q8N5C1	FA26E_HUMAN	V	11	ENSP00000357588:F11V	ENSP00000357588:F11V	F	+	1	0	FAM26E	116939583	0.013000	0.17824	0.799000	0.32177	0.983000	0.72400	-0.784000	0.04633	-0.699000	0.05077	0.533000	0.62120	TTC	FAM26E	-	NULL		0.483	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	T	NM_153711		116832890	1	no_errors	ENST00000368599	ensembl	human	known	70_37	missense	SNP	0.942	G	G	116832890	T	G	116832890	3	3	131	1	0	0	0	0	1	0	0	0	5568	1609	56	5	33	5	FAM26E	6	116832890	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	258443	116832890	54282177	794	20934										
GPRC6A	222545	genome.wustl.edu	37	chr6	117113737	117113737	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgagcatgccaaatgtaatGaatttggcttcattgtaatt	8	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:117113737G>T	ENST00000310357.3	-	6	2370	c.2349C>A	c.(2347-2349)ttC>ttA	p.F783L	GPRC6A_ENST00000530250.1_Missense_Mutation_p.F608L|GPRC6A_ENST00000368549.3_Missense_Mutation_p.F712L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	783					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAATGTAATGAATTTGGCTT	0.393																																																	0													66	72	70					6																	117113737		2203	4300	6503	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2349C>A	6.37:g.117113737G>T	ENSP00000309493:p.Phe783Leu		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.F783L	ENST00000310357.3	37	c.2349	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587330	0.66105	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87729	-2.29;-2.29;-2.29	4.26	2.48	0.30137	GPCR, family 3, C-terminal (2);	0.000000	0.56097	D	0.000029	D	0.86104	0.5853	L	0.58354	1.805	0.48135	D	0.999597	D;D;D	0.60160	0.984;0.961;0.987	D;P;P	0.64144	0.922;0.854;0.871	D	0.84175	0.0436	10	0.40728	T	0.16	.	9.6629	0.39965	0.1691:0.0:0.8309:0.0	.	712;608;783	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	L	783;712;608	ENSP00000309493:F783L;ENSP00000357537:F712L;ENSP00000433465:F608L	ENSP00000309493:F783L	F	-	3	2	GPRC6A	117220430	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	3.664000	0.54525	0.453000	0.26858	0.591000	0.81541	TTC	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.393	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	G			117113737	-1	no_errors	ENST00000310357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117113737	G	T	117113737	3	4	131	1	0	0	0	0	1	0	0	0	6748	1281	45	3	435	3	GPRC6A	6	117113737	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	280847	117113737	54001330	795	20935										
SLC35F1	222553	genome.wustl.edu	37	chr6	118635200	118635200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtttttttagttttcaggaCtttatctcctgtctttcttc	5	8	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:118635200C>A	ENST00000360388.4	+	8	1213	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	338					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTTTTCAGGACTTTATCTCCT	0.478																																																	0																																										SO:0001583	missense	222553			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1012C>A	6.37:g.118635200C>A	ENSP00000353557:p.Leu338Ile		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_DMT	p.L338I	ENST00000360388.4	37	c.1012	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665904	0.88251	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.78285	2.405	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.80226	-0.1470	9	0.54805	T	0.06	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	338	Q5T1Q4	S35F1_HUMAN	I	338	.	ENSP00000353557:L338I	L	+	1	0	SLC35F1	118741893	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.683000	0.74533	2.707000	0.92482	0.655000	0.94253	CTT	SLC35F1	-	pfam_DUF914_euk,pfam_DMT		0.478	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	C	XM_167044		118635200	1	no_errors	ENST00000360388	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118635200	C	A	118635200	3	1	131	1	0	0	0	0	1	0	0	0	14618	565	20	4	1042	4	SLC35F1	6	118635200	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1521463	118635200	52479867	796	20936										
SMPDL3A	10924	genome.wustl.edu	37	chr6	123130386	123130386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaaacaatttacaatcctaGacagtaagcagtttataaaa	4	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:123130386G>T	ENST00000368440.4	+	8	1372	c.1195G>T	c.(1195-1197)Gac>Tac	p.D399Y	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D268Y	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	399					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.D399N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TACAATCCTAGACAGTAAGCA	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											83	86	85					6																	123130386		2203	4300	6503	SO:0001583	missense	10924			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1195G>T	6.37:g.123130386G>T	ENSP00000357425:p.Asp399Tyr		B7Z729|Q8WV13	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.D399Y	ENST00000368440.4	37	c.1195	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457430	0.26161	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.91464	-2.85;-2.85	5.92	4.13	0.48395	.	0.417866	0.30781	N	0.008898	D	0.84479	0.5481	M	0.83312	2.635	0.09310	N	0.999992	B	0.31054	0.306	B	0.28139	0.086	T	0.79443	-0.1801	10	0.66056	D	0.02	-3.6449	11.0436	0.47846	0.0707:0.2998:0.6295:0.0	.	399	Q92484	ASM3A_HUMAN	Y	399;268	ENSP00000357425:D399Y;ENSP00000442152:D268Y	ENSP00000357425:D399Y	D	+	1	0	SMPDL3A	123172085	0.999000	0.42202	0.146000	0.22360	0.739000	0.42172	3.498000	0.53302	0.821000	0.34540	0.561000	0.74099	GAC	SMPDL3A	-	pirsf_ASM-like_Pdiesterase_prd		0.373	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	G	NM_006714		123130386	1	no_errors	ENST00000368440	ensembl	human	known	70_37	missense	SNP	0.036	T	T	123130386	G	T	123130386	3	4	131	1	0	0	0	0	1	0	0	0	14838	942	33	3	1225	3	SMPDL3A	6	123130386	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4495186	123130386	47984681	797	20937										
HEY2	23493	genome.wustl.edu	37	chr6	126080948	126080948	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagaagttggagctttttaAatttttcttgaacttcttgc	7	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:126080948A>C	ENST00000368364.3	+	5	1211	c.1014A>C	c.(1012-1014)taA>taC	p.*338Y	HEY2_ENST00000368365.1_Nonstop_Mutation_p.*292Y	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	0					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAGCTTTTTAAATTTTTCTTG	0.468																																																	0													23	28	26					6																	126080948		2203	4300	6503	SO:0001578	stop_lost	23493			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.1014A>C	6.37:g.126080948A>C	ENSP00000357348:p.*338Tyrext*25			Nonstop_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1	p.*338Y	ENST00000368364.3	37	c.1014	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931685	0.34096	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7287	0.62774	1.0:0.0:0.0:0.0	.	.	.	.	Y	292;338	.	.	X	+	3	2	HEY2	126122641	0.974000	0.33945	0.550000	0.28217	0.807000	0.45602	2.797000	0.47877	1.974000	0.57490	0.459000	0.35465	TAA	HEY2	-	NULL		0.468	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	A			126080948	1	no_errors	ENST00000368364	ensembl	human	known	70_37	nonstop	SNP	0.919	C	C	126080948	A	C	126080948	4	2	131	1	0	0	0	0	0	0	0	0	7099	21	1	5	1032	5	HEY2	6	126080948	Nonstop_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2950562	126080948	45034119	798	20938										
KIAA0408	9729	genome.wustl.edu	37	chr6	127767741	127767741	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaattttgcaatgcagactCtgttgctgtctcataggttt	9	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:127767741C>T	ENST00000483725.3	-	5	2059	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	575										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AATGCAGACTCTGTTGCTGTC	0.443																																																	0													113	103	106					6																	127767741		2203	4300	6503	SO:0001583	missense	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1723G>A	6.37:g.127767741C>T	ENSP00000435150:p.Glu575Lys		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.E575K	ENST00000483725.3	37	c.1723	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.149142	0.00328	.	.	ENSG00000189367	ENST00000483725	T	0.22743	1.94	5.23	4.12	0.48240	.	0.546467	0.15427	U	0.262887	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.21917	0.037	T	0.44757	-0.9307	10	0.06891	T	0.86	-0.2081	7.6501	0.28344	0.0:0.7708:0.0:0.2292	.	575	Q6ZU52	K0408_HUMAN	K	575	ENSP00000435150:E575K	ENSP00000435150:E575K	E	-	1	0	KIAA0408	127809434	0.041000	0.20044	0.001000	0.08648	0.013000	0.08279	1.900000	0.39828	0.866000	0.35629	0.655000	0.94253	GAG	KIAA0408	-	NULL		0.443	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	C	NM_014702		127767741	-1	no_errors	ENST00000483725	ensembl	human	novel	70_37	missense	SNP	0.001	T	T	127767741	C	T	127767741	3	4	131	1	0	0	0	0	1	0	0	0	8194	922	32	1	369	1	KIAA0408	6	127767741	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1686793	127767741	43347326	799	20939										
C6orf174	387104	genome.wustl.edu	37	chr6	127797568	127797568	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttctcatcaaagcggcttCttccttaacaaactgcagct	5	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:127797568C>A	ENST00000525778.1	-	6	2348	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	SOGA3_ENST00000368268.2_Nonsense_Mutation_p.E535*|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Nonsense_Mutation_p.E535*|SOGA3_ENST00000556132.1_Nonsense_Mutation_p.E535*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.E535*			Q5TF21	SOGA3_HUMAN	SOGA family member 3	535					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AAAGCGGCTTCTTCCTTAACA	0.408																																																	0													92	88	89					6																	127797568		1863	4103	5966	SO:0001587	stop_gained	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1603G>T	6.37:g.127797568C>A	ENSP00000434570:p.Glu535*			Nonsense_Mutation	SNP	pfam_DUF3166	p.E535*	ENST00000525778.1	37	c.1603	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	47	13.159772	0.99724	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.667	19.4511	0.94867	0.0:1.0:0.0:0.0	.	.	.	.	X	535	.	ENSP00000435559:E535X	E	-	1	0	C6orf174	127839261	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.815000	0.86186	2.613000	0.88420	0.561000	0.74099	GAA	SOGA3	-	pfam_DUF3166		0.408	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127797568	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	127797568	C	A	127797568	4	1	131	1	0	0	0	0	0	1	0	0	2350	922	32	3	1248	3	C6orf174	6	127797568	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	29827	127797568	43317499	800	20940										
LAMA2	3908	genome.wustl.edu	37	chr6	129571353	129571353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctccagcttatgattatcTtagaggtagagtactgagag	10	6	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:129571353T>G	ENST00000421865.2	+	13	1928	c.1879T>G	c.(1879-1881)Tta>Gta	p.L627V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	627	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATGATTATCTTAGAGGTAGA	0.418																																																	0													139	119	126					6																	129571353		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1879T>G	6.37:g.129571353T>G	ENSP00000400365:p.Leu627Val		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L627V	ENST00000421865.2	37	c.1879	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	8.421	0.846297	0.16963	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.48836	0.8	5.69	3.06	0.35304	Laminin B type IV (2);Laminin B, subgroup (1);	0.152897	0.40554	N	0.001066	T	0.24005	0.0581	M	0.81341	2.54	0.25604	N	0.986568	B;B	0.28128	0.016;0.201	B;B	0.27608	0.021;0.081	T	0.18681	-1.0329	10	0.34782	T	0.22	.	2.5884	0.04836	0.3062:0.2198:0.0:0.474	.	627;627	A6NF00;P24043	.;LAMA2_HUMAN	V	627	ENSP00000400365:L627V	ENSP00000346769:L627V	L	+	1	2	LAMA2	129613046	1.000000	0.71417	0.977000	0.42913	0.163000	0.22366	1.136000	0.31467	1.095000	0.41419	0.533000	0.62120	TTA	LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	T			129571353	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.994	G	G	129571353	T	G	129571353	3	3	131	1	0	0	0	0	1	0	0	0	8626	1606	56	5	1929	5	LAMA2	6	129571353	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1773785	129571353	41543714	801	20941										
LAMA2	3908	genome.wustl.edu	37	chr6	129573365	129573365	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagtccgtagaaaggaatTtatgacagtgcttgcgaatt	10	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:129573365T>G	ENST00000421865.2	+	14	2070	c.2021T>G	c.(2020-2022)tTt>tGt	p.F674C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	674	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAAAGGAATTTATGACAGTG	0.398																																																	0													107	100	103					6																	129573365		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2021T>G	6.37:g.129573365T>G	ENSP00000400365:p.Phe674Cys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.F674C	ENST00000421865.2	37	c.2021	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748331	0.69533	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.45668	0.89	5.67	5.67	0.87782	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.81942	2.565	0.53688	D	0.999979	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.66594	-0.5884	10	0.87932	D	0	.	16.2076	0.82138	0.0:0.0:0.0:1.0	.	674;674	A6NF00;P24043	.;LAMA2_HUMAN	C	674	ENSP00000400365:F674C	ENSP00000346769:F674C	F	+	2	0	LAMA2	129615058	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.562000	0.67346	2.285000	0.76669	0.477000	0.44152	TTT	LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	T			129573365	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129573365	T	G	129573365	3	3	131	1	0	0	0	0	1	0	0	0	8626	1841	64	5	2075	5	LAMA2	6	129573365	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2012	129573365	41541702	802	20942										
LAMA2	3908	genome.wustl.edu	37	chr6	129785560	129785560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagttcagaacattttcttCgagtgctcttctgatgtatc	7	9	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:129785560C>T	ENST00000421865.2	+	50	7167	c.7118C>T	c.(7117-7119)tCg>tTg	p.S2373L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2373	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATTTTCTTCGAGTGCTCTT	0.423																																																	0													274	222	240					6																	129785560		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7118C>T	6.37:g.129785560C>T	ENSP00000400365:p.Ser2373Leu		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.S2373L	ENST00000421865.2	37	c.7118	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.555896	0.96514	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.77098	-1.07	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.172642	0.53938	D	0.000060	D	0.83464	0.5260	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.80564	-0.1326	9	.	.	.	.	20.1922	0.98231	0.0:1.0:0.0:0.0	.	2374;2373	A6NF00;P24043	.;LAMA2_HUMAN	L	2373;2372;2373;391	ENSP00000400365:S2373L	.	S	+	2	0	LAMA2	129827253	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.578000	0.60929	2.767000	0.95098	0.655000	0.94253	TCG	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129785560	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129785560	C	T	129785560	3	4	131	1	0	0	0	0	1	0	0	0	8626	893	31	1	7316	1	LAMA2	6	129785560	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	212195	129785560	41329507	803	20943										
AKAP7	9465	genome.wustl.edu	37	chr6	131481239	131481239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatttgaagagaagtcaagaAaatgaatgggtcaagagtga	12	2	2	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:131481239A>C	ENST00000431975.2	+	3	290	c.192A>C	c.(190-192)gaA>gaC	p.E64D	AKAP7_ENST00000541650.1_Missense_Mutation_p.E63D|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.E42D	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	64						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.E42D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAAGTCAAGAAAATGAATGGG	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											52	51	51					6																	131481239		2203	4296	6499	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.192A>C	6.37:g.131481239A>C	ENSP00000405252:p.Glu64Asp		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.E42D	ENST00000431975.2	37	c.126	CCDS5142.2	6	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383596	0.25031	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.33865	1.41;1.39;1.42	5.32	4.14	0.48551	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.352423	0.29572	N	0.011763	T	0.16642	0.0400	L	0.57536	1.79	0.27318	N	0.957121	B	0.13145	0.007	B	0.12156	0.007	T	0.15694	-1.0428	10	0.46703	T	0.11	-9.5975	9.6537	0.39912	0.8249:0.1751:0.0:0.0	.	64	Q9P0M2	AKA7G_HUMAN	D	64;63;42	ENSP00000405252:E64D;ENSP00000441048:E63D;ENSP00000357105:E42D	ENSP00000357105:E42D	E	+	3	2	AKAP7	131522932	1.000000	0.71417	0.958000	0.39756	0.242000	0.25591	2.627000	0.46469	0.950000	0.37743	0.528000	0.53228	GAA	AKAP7	-	pfam_Kinase-A_anchor_nucl_local_sig		0.328	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2	A	NM_004842		131481239	1	no_errors	ENST00000368123	ensembl	human	known	70_37	missense	SNP	0.993	C	C	131481239	A	C	131481239	3	2	131	1	0	0	0	0	1	0	0	0	456	11	1	5	132	5	AKAP7	6	131481239	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1695679	131481239	39633828	804	20944										
CTAGE9	643854	genome.wustl.edu	37	chr6	132031684	132031684	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatcttgttgagaatgtttAgatttctcttcttttaagtc	6	6	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132031684A>C	ENST00000314099.8	-	1	522	c.474T>G	c.(472-474)tcT>tcG	p.S158S	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	158						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GAGAATGTTTAGATTTCTCTT	0.378																																																	0													1	1	1					6																	132031684		45	330	375	SO:0001819	synonymous_variant	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.474T>G	6.37:g.132031684A>C				Silent	SNP	NULL	p.S158	ENST00000314099.8	37	c.474	CCDS47475.1	6																																																																																			CTAGE9	-	NULL		0.378	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	A	NM_001145659		132031684	-1	no_errors	ENST00000314099	ensembl	human	known	70_37	silent	SNP	0.000	C	C	132031684	A	C	132031684	2	2	131	1	0	0	0	0	0	0	0	1	4001	407	15	5		5	CTAGE9	6	132031684	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	550445	132031684	39083383	805	20945										
TAAR8	83551	genome.wustl.edu	37	chr6	132874749	132874749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattataactcagccatgaaTcctttgatttatgctctatt	4	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132874749T>C	ENST00000275200.1	+	1	918	c.918T>C	c.(916-918)aaT>aaC	p.N306N		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	306					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CAGCCATGAATCCTTTGATTT	0.333																																																	0													130	135	133					6																	132874749		2203	4300	6503	SO:0001819	synonymous_variant	83551			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.918T>C	6.37:g.132874749T>C			Q5VUQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.N306	ENST00000275200.1	37	c.918	CCDS5154.1	6																																																																																			TAAR8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.333	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR8	HGNC	protein_coding	OTTHUMT00000042262.1	T	NM_053278		132874749	1	no_errors	ENST00000275200	ensembl	human	known	70_37	silent	SNP	0.538	C	C	132874749	T	C	132874749	2	2	131	1	0	0	0	0	0	0	0	1	15523	1432	50	5		5	TAAR8	6	132874749	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	843065	132874749	38240318	806	20946										
TAAR2	9287	genome.wustl.edu	37	chr6	132938869	132938869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagtagcaatcttttaatgActggaatagttattttggtg	10	3	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132938869A>G	ENST00000367931.1	-	2	475	c.476T>C	c.(475-477)gTc>gCc	p.V159A	TAAR2_ENST00000537809.1_Missense_Mutation_p.V114A|TAAR2_ENST00000275191.2_Missense_Mutation_p.V114A			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	159					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTTTTAATGACTGGAATAGT	0.408																																																	0													60	61	61					6																	132938869		2203	4300	6503	SO:0001583	missense	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.476T>C	6.37:g.132938869A>G	ENSP00000356908:p.Val159Ala		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.V159A	ENST00000367931.1	37	c.476	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	A	3.825	-0.036974	0.07497	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.38240	1.15;1.15;1.15	6.0	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.148678	0.43110	D	0.000612	T	0.16854	0.0405	L	0.58925	1.835	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.17107	-1.0380	10	0.45353	T	0.12	-30.4214	10.4118	0.44299	0.8102:0.0:0.1898:0.0	.	159	Q9P1P5	TAAR2_HUMAN	A	114;159;114	ENSP00000275191:V114A;ENSP00000356908:V159A;ENSP00000441263:V114A	ENSP00000275191:V114A	V	-	2	0	TAAR2	132980562	0.000000	0.05858	0.102000	0.21198	0.112000	0.19704	0.714000	0.25808	1.092000	0.41356	0.528000	0.53228	GTC	TAAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.408	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	A	NM_014626		132938869	-1	no_errors	ENST00000367931	ensembl	human	known	70_37	missense	SNP	0.050	G	G	132938869	A	G	132938869	3	3	131	1	0	0	0	0	1	0	0	0	15520	275	10	5	583	5	TAAR2	6	132938869	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	64120	132938869	38176198	807	20947										
TAAR2	9287	genome.wustl.edu	37	chr6	132939229	132939229	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagccactcggacacccagaGatctttcattttctgggcaa	8	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132939229G>T	ENST00000367931.1	-	2	115	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	TAAR2_ENST00000537809.1_5'UTR|TAAR2_ENST00000275191.2_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	39					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GACACCCAGAGATCTTTCATT	0.333																																																	0													71	74	73					6																	132939229		2203	4300	6503	SO:0001583	missense	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.116C>A	6.37:g.132939229G>T	ENSP00000356908:p.Ser39Tyr		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.S39Y	ENST00000367931.1	37	c.116	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	G	4.145	0.025197	0.08054	.	.	ENSG00000146378	ENST00000367931	T	0.39229	1.09	5.5	5.5	0.81552	.	0.357838	0.26715	N	0.022870	T	0.30355	0.0762	L	0.50333	1.59	0.54753	D	0.999989	P	0.35208	0.49	B	0.32624	0.149	T	0.26018	-1.0115	10	0.72032	D	0.01	-0.4312	19.3522	0.94393	0.0:0.0:1.0:0.0	.	39	Q9P1P5	TAAR2_HUMAN	Y	39	ENSP00000356908:S39Y	ENSP00000356908:S39Y	S	-	2	0	TAAR2	132980922	0.467000	0.25831	0.006000	0.13384	0.032000	0.12392	3.547000	0.53663	2.740000	0.93945	0.650000	0.86243	TCT	TAAR2	-	NULL		0.333	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	G	NM_014626		132939229	-1	no_errors	ENST00000367931	ensembl	human	known	70_37	missense	SNP	0.020	T	T	132939229	G	T	132939229	3	4	131	1	0	0	0	0	1	0	0	0	15520	942	33	3	943	3	TAAR2	6	132939229	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	360	132939229	38175838	808	20948										
SLC2A12	154091	genome.wustl.edu	37	chr6	134350492	134350492	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctgtgttgaggagcaatCtctgcgatgtaaacacaagt	10	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:134350492C>A	ENST00000275230.5	-	2	626	c.471G>T	c.(469-471)gaG>gaT	p.E157D		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	157					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GAGGAGCAATCTCTGCGATGT	0.453																																					Melanoma(122;1663 1672 14489 35294 41228)												0													107	108	108					6																	134350492		2203	4300	6503	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.471G>T	6.37:g.134350492C>A	ENSP00000275230:p.Glu157Asp		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.E157D	ENST00000275230.5	37	c.471	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388299	0.61956	.	.	ENSG00000146411	ENST00000275230	D	0.86497	-2.13	5.4	2.53	0.30540	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	H	0.96208	3.785	0.51482	D	0.999928	D	0.89917	1.0	D	0.97110	1.0	D	0.94006	0.7280	10	0.87932	D	0	-17.1885	10.7182	0.46026	0.0:0.7809:0.0:0.2191	.	157	Q8TD20	GTR12_HUMAN	D	157	ENSP00000275230:E157D	ENSP00000275230:E157D	E	-	3	2	SLC2A12	134392185	0.996000	0.38824	1.000000	0.80357	0.895000	0.52256	0.474000	0.22148	0.608000	0.30000	0.467000	0.42956	GAG	SLC2A12	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	C			134350492	-1	no_errors	ENST00000275230	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134350492	C	A	134350492	3	1	131	1	0	0	0	0	1	0	0	0	14571	912	32	3	1398	3	SLC2A12	6	134350492	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1411263	134350492	36764575	809	20949										
HBS1L	10767	genome.wustl.edu	37	chr6	135358048	135358048	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaacttagaactttagttCgtgatgatggagcaatggat	11	4	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:135358048C>T	ENST00000367837.5	-	4	637				HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.R516Q|HBS1L_ENST00000367820.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACTTTAGTTCGTGATGATGG	0.363																																																	0													47	42	44					6																	135358048		692	1591	2283	SO:0001627	intron_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2662G>A	6.37:g.135358048C>T			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916	p.R516Q	ENST00000367837.5	37	c.1547	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111677	0.08831	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.32	1.53	0.23141	.	.	.	.	.	T	0.16811	0.0404	.	.	.	0.43919	D	0.996568	B	0.28933	0.228	B	0.22386	0.039	T	0.05784	-1.0864	7	0.23891	T	0.37	.	8.0185	0.30395	0.0:0.4937:0.0:0.5063	.	516	Q9Y450-2	.	Q	516	.	ENSP00000356796:R516Q	R	-	2	0	HBS1L	135399741	0.930000	0.31532	0.116000	0.21606	0.249000	0.25844	0.435000	0.21510	0.055000	0.16094	0.655000	0.94253	CGA	HBS1L	-	NULL		0.363	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135358048	-1	no_errors	ENST00000367822	ensembl	human	known	70_37	missense	SNP	0.604	T	T	135358048	C	T	135358048	1	4	131	0	1	0	0	0	0	0	0	0	7007	884	31	1		1	HBS1L	6	135358048	Intron	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1007556	135358048	35757019	810	20950										
MAP7	9053	genome.wustl.edu	37	chr6	136683707	136683707	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtcggtggtgcctgcagaAgtcttaacagaagcactggc	15	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:136683707A>C	ENST00000354570.3	-	11	1817	c.1407T>G	c.(1405-1407)acT>acG	p.T469T	MAP7_ENST00000454590.1_Silent_p.T491T|MAP7_ENST00000438100.2_Silent_p.T454T|MAP7_ENST00000544465.1_Silent_p.T454T|MAP7_ENST00000432797.2_Silent_p.T323T|RP3-406A7.3_ENST00000571188.1_RNA	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	469					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCCTGCAGAAGTCTTAACAG	0.632																																																	0													67	66	66					6																	136683707		2203	4300	6503	SO:0001819	synonymous_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1407T>G	6.37:g.136683707A>C			B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	pfam_E-MAP-115	p.T491	ENST00000354570.3	37	c.1473	CCDS5178.1	6																																																																																			MAP7	-	pfam_E-MAP-115		0.632	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	A	NM_003980		136683707	-1	no_errors	ENST00000454590	ensembl	human	known	70_37	silent	SNP	0.992	C	C	136683707	A	C	136683707	2	2	131	1	0	0	0	0	0	0	0	1	9289	59	3	5		5	MAP7	6	136683707	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1325659	136683707	34431360	811	20951										
MAP3K5	4217	genome.wustl.edu	37	chr6	137041623	137041623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagtccgagttagtatcacAgtagaggatgatgttgttgg	14	4	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:137041623A>C	ENST00000359015.4	-	2	913	c.553T>G	c.(553-555)Tgt>Ggt	p.C185G		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTAGTATCACAGTAGAGGATG	0.478																																																	0													227	189	202					6																	137041623		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.553T>G	6.37:g.137041623A>C	ENSP00000351908:p.Cys185Gly		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C185G	ENST00000359015.4	37	c.553	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924860	0.52759	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.09445	2.98	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.56769	1.78	0.80722	D	1	P;D;D	0.89917	0.866;1.0;0.999	P;D;D	0.87578	0.665;0.998;0.996	T	0.01256	-1.1404	10	0.30078	T	0.28	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	265;30;185	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	G	185;265	ENSP00000351908:C185G	ENSP00000351908:C185G	C	-	1	0	MAP3K5	137083316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.997000	0.70646	2.308000	0.77769	0.533000	0.62120	TGT	MAP3K5	-	NULL		0.478	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	A			137041623	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137041623	A	C	137041623	3	2	131	1	0	0	0	0	1	0	0	0	9276	188	7	5	3687	5	MAP3K5	6	137041623	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	357916	137041623	34073444	812	20952										
IFNGR1	3459	genome.wustl.edu	37	chr6	137519179	137519179	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagctgatctcatgaaaattCtttggaatcttctgttggtc	8	7	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:137519179C>A	ENST00000367739.4	-	7	1580	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.E459*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	487					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CATGAAAATTCTTTGGAATCT	0.363																																																	0													83	84	84					6																	137519179		2203	4300	6503	SO:0001587	stop_gained	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1459G>T	6.37:g.137519179C>A	ENSP00000356713:p.Glu487*		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.E487*	ENST00000367739.4	37	c.1459	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940753	0.73557	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	6.03	5.15	0.70609	.	0.810102	0.11244	N	0.584330	.	.	.	.	.	.	0.31183	N	0.701785	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.2317	13.3419	0.60549	0.0:0.8421:0.1579:0.0	.	.	.	.	X	487;459	.	ENSP00000356713:E487X	E	-	1	0	IFNGR1	137560872	0.001000	0.12720	0.013000	0.15412	0.002000	0.02628	0.995000	0.29706	1.539000	0.49286	-0.176000	0.13171	GAA	IFNGR1	-	NULL		0.363	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	C			137519179	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	nonsense	SNP	0.020	A	A	137519179	C	A	137519179	4	1	131	1	0	0	0	0	0	1	0	0	7569	922	32	3	14	3	IFNGR1	6	137519179	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	477556	137519179	33595888	813	20953										
KIAA1244	57221	genome.wustl.edu	37	chr6	138640859	138640859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaccagggtttggtatctaTgcagtggttcacctcctcct	11	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:138640859T>C	ENST00000251691.4	+	28	4660	c.4494T>C	c.(4492-4494)taT>taC	p.Y1498Y		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGGTATCTATGCAGTGGTTC	0.488																																																	0													195	198	197					6																	138640859		2203	4300	6503	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4494T>C	6.37:g.138640859T>C				Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.Y1498	ENST00000251691.4	37	c.4494	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold		0.488	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	T	NM_020340		138640859	1	no_errors	ENST00000251691	ensembl	human	known	70_37	silent	SNP	1.000	C	C	138640859	T	C	138640859	2	2	131	1	0	0	0	0	0	0	0	1	8237	1471	51	5		5	KIAA1244	6	138640859	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1121680	138640859	32474208	814	20954										
PLAGL1	5325	genome.wustl.edu	37	chr6	144269240	144269240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctccagggtgaggaacgTcttgccacataactggcagg	12	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:144269240T>C	ENST00000360537.2	-	4	1947	c.34A>G	c.(34-36)Acg>Gcg	p.T12A	PLAGL1_ENST00000354765.2_Missense_Mutation_p.T12A|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000444202.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000416623.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000392307.1_Intron|PLAGL1_ENST00000367571.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000429150.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000392309.1_Missense_Mutation_p.T12A			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	12					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GTGAGGAACGTCTTGCCACAT	0.512																																																	0													105	82	90					6																	144269240		2203	4300	6503	SO:0001583	missense	5325			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.34A>G	6.37:g.144269240T>C	ENSP00000353734:p.Thr12Ala		B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T12A	ENST00000360537.2	37	c.34	CCDS5202.1	6	.	.	.	.	.	.	.	.	.	.	T	2.331	-0.353279	0.05173	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000367571	T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5	6.02	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.739114	0.12562	N	0.458040	T	0.01156	0.0038	N	0.05574	-0.02	0.27556	N	0.950357	B	0.09022	0.002	B	0.08055	0.003	T	0.48317	-0.9046	10	0.02654	T	1	-5.9422	4.1766	0.10355	0.1427:0.2328:0.0:0.6244	.	12	Q9UM63	PLAL1_HUMAN	A	12	ENSP00000353734:T12A;ENSP00000346810:T12A;ENSP00000400929:T12A;ENSP00000398409:T12A;ENSP00000376125:T12A;ENSP00000400060:T12A;ENSP00000356543:T12A	ENSP00000346810:T12A	T	-	1	0	PLAGL1	144310933	0.025000	0.19082	0.646000	0.29493	0.910000	0.53928	0.383000	0.20651	0.133000	0.18654	0.533000	0.62120	ACG	PLAGL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL1	HGNC	protein_coding	OTTHUMT00000042541.1	T			144269240	-1	no_errors	ENST00000354765	ensembl	human	known	70_37	missense	SNP	0.135	C	C	144269240	T	C	144269240	3	2	131	1	0	0	0	0	1	0	0	0	12043	1667	58	5	1365	5	PLAGL1	6	144269240	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5628381	144269240	26845827	815	20955										
UTRN	7402	genome.wustl.edu	37	chr6	144724303	144724303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaacctttaccaaatggataAatgctcgattttcaaaggta	6	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:144724303A>C	ENST00000367545.3	+	2	124	c.124A>C	c.(124-126)Aat>Cat	p.N42H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	42	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			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)		CAAATGGATAAATGCTCGATT	0.373																																																	0													79	76	77					6																	144724303		2202	4300	6502	SO:0001583	missense	7402			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.124A>C	6.37:g.144724303A>C	ENSP00000356515:p.Asn42His		Q5SYY1|Q5SZ57|Q9UJ40	Missense_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.N42H	ENST00000367545.3	37	c.124	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874874	0.51695	.	.	ENSG00000152818	ENST00000433557;ENST00000367529;ENST00000367545;ENST00000421035	D;D;D	0.98192	-4.78;-4.78;-4.78	5.48	5.48	0.80851	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.53938	D	0.000052	D	0.99272	0.9746	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98911	1.0780	10	0.87932	D	0	.	14.8543	0.70323	1.0:0.0:0.0:0.0	.	42	P46939	UTRO_HUMAN	H	42;42;42;47	ENSP00000390879:N42H;ENSP00000356515:N42H;ENSP00000396276:N47H	ENSP00000356499:N42H	N	+	1	0	UTRN	144765996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.728000	0.74769	2.204000	0.70986	0.528000	0.53228	AAT	UTRN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	A			144724303	1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144724303	A	C	144724303	3	2	131	1	0	0	0	0	1	0	0	0	17134	14	1	5	130	5	UTRN	6	144724303	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	455063	144724303	26390764	816	20956										
SASH1	23328	genome.wustl.edu	37	chr6	148840845	148840845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccatcctccagcagcctggAcacctggggggctggccgga	14	15	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:148840845A>G	ENST00000367467.3	+	10	1500	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	342					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCAGCCTGGACACCTGGGGG	0.567																																																	0													55	58	57					6																	148840845		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1025A>G	6.37:g.148840845A>G	ENSP00000356437:p.Asp342Gly		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.D342G	ENST00000367467.3	37	c.1025	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387488	0.61956	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	.	0.143380	0.64402	D	0.000007	T	0.15522	0.0374	N	0.20986	0.625	0.50313	D	0.999865	B;B	0.20052	0.041;0.041	B;B	0.17722	0.019;0.019	T	0.06607	-1.0817	10	0.48119	T	0.1	-14.2263	9.9203	0.41459	0.9241:0.0:0.0759:0.0	.	323;342	Q6P4R9;O94885	.;SASH1_HUMAN	G	342;103	ENSP00000356437:D342G	ENSP00000356437:D342G	D	+	2	0	SASH1	148882538	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	7.162000	0.77515	2.061000	0.61500	0.533000	0.62120	GAC	SASH1	-	NULL		0.567	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	A	NM_015278		148840845	1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.995	G	G	148840845	A	G	148840845	3	3	131	1	0	0	0	0	1	0	0	0	13878	275	10	5	1063	5	SASH1	6	148840845	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	4116542	148840845	22274222	817	20957										
PLEKHG1	57480	genome.wustl.edu	37	chr6	151055208	151055208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgaaaggacttatgtacaaGatttaaaaagcatcgtagag	9	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:151055208G>T	ENST00000358517.2	+	2	602	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.D131Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTATGTACAAGATTTAAAAAG	0.458																																																	0													80	88	86					6																	151055208		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.391G>T	6.37:g.151055208G>T	ENSP00000351318:p.Asp131Tyr		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D131Y	ENST00000358517.2	37	c.391	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912909	0.92178	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.65732	-0.17;-0.17	5.66	5.66	0.87406	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83937	0.0309	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	131;131	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	Y	131	ENSP00000356297:D131Y;ENSP00000351318:D131Y	.	D	+	1	0	PLEKHG1	151096901	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.070000	0.93974	2.826000	0.97356	0.655000	0.94253	GAT	PLEKHG1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.458	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	G			151055208	1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151055208	G	T	151055208	3	4	131	1	0	0	0	0	1	0	0	0	12092	942	33	3	393	3	PLEKHG1	6	151055208	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2214363	151055208	20059859	818	20958										
C6orf97	80129	genome.wustl.edu	37	chr6	151936779	151936779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgaaatgaagacactaaaaAaatctctggaagaagcagaa	9	5	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:151936779A>C	ENST00000239374.7	+	10	2011	c.1912A>C	c.(1912-1914)Aaa>Caa	p.K638Q	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.K645Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	638																	GACACTAAAAAAATCTCTGGA	0.393																																																	0													132	129	130					6																	151936779		1821	4075	5896	SO:0001583	missense	80129			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1912A>C	6.37:g.151936779A>C	ENSP00000239374:p.Lys638Gln		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.K645Q	ENST00000239374.7	37	c.1933	CCDS43515.1	6	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739419	0.30774	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08807	3.05;3.05	5.95	4.77	0.60923	.	0.390641	0.28853	N	0.013923	T	0.03608	0.0103	M	0.72118	2.19	0.09310	N	1	B	0.29862	0.259	B	0.29862	0.108	T	0.39292	-0.9621	10	0.19590	T	0.45	-8.5428	8.9396	0.35722	0.7435:0.1312:0.0:0.1252	.	638	Q8IYT3	CF097_HUMAN	Q	638;645	ENSP00000239374:K638Q;ENSP00000356259:K645Q	ENSP00000239374:K638Q	K	+	1	0	C6orf97	151978472	0.385000	0.25172	0.035000	0.18076	0.956000	0.61745	3.518000	0.53451	1.044000	0.40200	0.533000	0.62120	AAA	CCDC170	-	NULL		0.393	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	A	NM_025059		151936779	1	no_errors	ENST00000367290	ensembl	human	known	70_37	missense	SNP	0.001	C	C	151936779	A	C	151936779	3	2	131	1	0	0	0	0	1	0	0	0	2379	15	1	5	1950	5	C6orf97	6	151936779	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	881571	151936779	19178288	819	20959										
SYNE1	23345	genome.wustl.edu	37	chr6	152565761	152565761	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgattcctgcatcaaattCtttgagtccatcttcagcct	5	11	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152565761C>A	ENST00000367255.5	-	106	20204	c.19603G>T	c.(19603-19605)Gaa>Taa	p.E6535*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6464*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E1059*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E6147*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6464*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6535*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6535					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATCAAATTCTTTGAGTCCA	0.438										HNSCC(10;0.0054)																																							0													169	153	158					6																	152565761		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19603G>T	6.37:g.152565761C>A	ENSP00000356224:p.Glu6535*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6535*	ENST00000367255.5	37	c.19603	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	43	10.408881	0.99400	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.76	5.76	0.90799	.	0.098369	0.44097	D	0.000483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	6535;6464;6535;6464;6147;1059	.	ENSP00000265368:E6535X	E	-	1	0	SYNE1	152607454	1.000000	0.71417	0.965000	0.40720	0.751000	0.42716	7.125000	0.77193	2.730000	0.93505	0.591000	0.81541	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152565761	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152565761	C	A	152565761	4	1	131	1	0	0	0	0	0	1	0	0	15475	922	32	3	7027	3	SYNE1	6	152565761	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	628982	152565761	18549306	820	20960										
SYNE1	23345	genome.wustl.edu	37	chr6	152576221	152576221	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccttaatgtctttggcaaGaatctagaggtgataaaagg	10	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152576221G>T	ENST00000367255.5	-	104	19865	c.19264C>A	c.(19264-19266)Ctt>Att	p.L6422I	SYNE1_ENST00000423061.1_Missense_Mutation_p.L6351I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L946I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6034I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6351I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6422I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6422					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTGGCAAGAATCTAGAGG	0.333										HNSCC(10;0.0054)																																							0													56	50	52					6																	152576221		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19264C>A	6.37:g.152576221G>T	ENSP00000356224:p.Leu6422Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6422I	ENST00000367255.5	37	c.19264	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600398	0.87055	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.70631	-0.4;-0.44;-0.5;-0.43;-0.13;1.97	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000047	D	0.82365	0.5021	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.991;0.996	T	0.82157	-0.0596	10	0.62326	D	0.03	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	6422;6422;6351	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6422;6351;6422;6351;6034;946	ENSP00000356224:L6422I;ENSP00000396024:L6351I;ENSP00000265368:L6422I;ENSP00000390975:L6351I;ENSP00000341887:L6034I;ENSP00000349276:L946I	ENSP00000265368:L6422I	L	-	1	0	SYNE1	152617914	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.159000	0.77483	2.785000	0.95823	0.655000	0.94253	CTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152576221	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152576221	G	T	152576221	3	4	131	1	0	0	0	0	1	0	0	0	15475	942	33	3	7374	3	SYNE1	6	152576221	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	10460	152576221	18538846	821	20961										
SYNE1	23345	genome.wustl.edu	37	chr6	152768678	152768678	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgggcttcattctcagaaGaaacttctgtcaaaactttc	6	9	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152768678G>T	ENST00000367255.5	-	29	4185	c.3584C>A	c.(3583-3585)tCt>tAt	p.S1195Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S1202Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1185Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1195Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1195Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1261Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1202Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1195Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1195					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S1195Y(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTCAGAAGAAACTTCTGT	0.453										HNSCC(10;0.0054)																																							2	Substitution - Missense(2)	large_intestine(2)											95	93	93					6																	152768678		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3584C>A	6.37:g.152768678G>T	ENSP00000356224:p.Ser1195Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1195Y	ENST00000367255.5	37	c.3584	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721626	0.68959	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.9	5.9	0.94986	.	0.103731	0.43747	D	0.000536	T	0.49712	0.1573	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.998;0.996;0.998	D;D;D;D;D;D	0.74023	0.943;0.935;0.982;0.942;0.935;0.971	T	0.40961	-0.9535	10	0.44086	T	0.13	.	15.1045	0.72310	0.0:0.151:0.849:0.0	.	1178;1195;1185;1195;1195;1202	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Y	1195;1202;1195;1202;1261;1195;1185;1195	ENSP00000356224:S1195Y;ENSP00000396024:S1202Y;ENSP00000265368:S1195Y;ENSP00000390975:S1202Y;ENSP00000341887:S1261Y;ENSP00000356222:S1195Y;ENSP00000356217:S1185Y;ENSP00000414510:S1195Y	ENSP00000265368:S1195Y	S	-	2	0	SYNE1	152810371	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.277000	0.58939	2.798000	0.96311	0.650000	0.86243	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152768678	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152768678	G	T	152768678	3	4	131	1	0	0	0	0	1	0	0	0	15475	942	33	3	23354	3	SYNE1	6	152768678	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	192457	152768678	18346389	822	20962										
SYNE1	23345	genome.wustl.edu	37	chr6	152787212	152787212	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acttgctattttctataaaaGactagaaaaggaggaatggt	9	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152787212G>T	ENST00000367255.5	-	17	2235	c.1634C>A	c.(1633-1635)tCt>tAt	p.S545Y	SYNE1_ENST00000466159.2_Splice_Site_p.S545Y|SYNE1_ENST00000423061.1_Splice_Site_p.S552Y|SYNE1_ENST00000367248.3_Splice_Site_p.S535Y|SYNE1_ENST00000495090.2_Splice_Site_p.S112Y|SYNE1_ENST00000367253.4_Splice_Site_p.S545Y|SYNE1_ENST00000413186.2_Splice_Site_p.S545Y|SYNE1_ENST00000341594.5_Splice_Site_p.S552Y|SYNE1_ENST00000448038.1_Splice_Site_p.S552Y|SYNE1_ENST00000265368.4_Splice_Site_p.S545Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	545					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTATAAAAGACTAGAAAAG	0.358										HNSCC(10;0.0054)																																							0													86	81	82					6																	152787212		2202	4298	6500	SO:0001630	splice_region_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1633-1C>A	6.37:g.152787212G>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S545Y	ENST00000367255.5	37	c.1634	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530983	0.85706	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;T;D;D	0.91577	0.61;0.61;0.52;0.61;0.73;-2.23;-2.38;-2.37;2.16;-2.67;-2.87	5.79	5.79	0.91817	.	0.218239	0.32563	N	0.005940	D	0.91553	0.7332	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.991;0.994;0.971;0.971;0.959;0.994;0.997	P;P;P;P;P;P;D	0.66351	0.801;0.804;0.812;0.807;0.784;0.804;0.943	D	0.90326	0.4348	10	0.40728	T	0.16	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	528;545;545;112;535;545;552	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Y	545;552;545;552;552;545;535;545;112;545;528	ENSP00000356224:S545Y;ENSP00000396024:S552Y;ENSP00000265368:S545Y;ENSP00000390975:S552Y;ENSP00000341887:S552Y;ENSP00000356222:S545Y;ENSP00000356217:S535Y;ENSP00000414510:S545Y;ENSP00000438508:S112Y;ENSP00000446021:S545Y;ENSP00000441264:S528Y	ENSP00000265368:S545Y	S	-	2	0	SYNE1	152828905	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.491000	0.60326	2.726000	0.93360	0.655000	0.94253	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961	Missense_Mutation	152787212	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152787212	G	T	152787212	5	4	131	1	0	0	0	0	0	0	1	0	15475	956	33	3	25352	3	SYNE1	6	152787212	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	18534	152787212	18327855	823	20963										
FBXO5	26271	genome.wustl.edu	37	chr6	153293413	153293413	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agacaaaaaattacctcagaGaattcattgtgtcgactata	6	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:153293413G>T	ENST00000229758.3	-	4	1144	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L	FBXO5_ENST00000367241.3_Missense_Mutation_p.F316L|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	362					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTACCTCAGAGAATTCATTGT	0.323																																					NSCLC(121;372 1757 17721 17977 29669)												0													77	77	77					6																	153293413		2203	4300	6503	SO:0001583	missense	26271			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1086C>A	6.37:g.153293413G>T	ENSP00000229758:p.Phe362Leu		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.F362L	ENST00000229758.3	37	c.1086	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979539	0.74360	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48201	0.82;0.86	5.75	2.63	0.31362	.	0.050695	0.85682	D	0.000000	T	0.52500	0.1738	M	0.75264	2.295	0.43107	D	0.994809	D	0.76494	0.999	D	0.80764	0.994	T	0.56220	-0.8015	10	0.62326	D	0.03	-17.872	7.1757	0.25742	0.4826:0.0:0.5174:0.0	.	362	Q9UKT4	FBX5_HUMAN	L	362;316	ENSP00000229758:F362L;ENSP00000356210:F316L	ENSP00000229758:F362L	F	-	3	2	FBXO5	153335106	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.401000	0.44513	0.774000	0.33427	0.655000	0.94253	TTC	FBXO5	-	NULL		0.323	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	HGNC	protein_coding	OTTHUMT00000042757.1	G			153293413	-1	no_errors	ENST00000229758	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153293413	G	T	153293413	3	4	131	1	0	0	0	0	1	0	0	0	5776	933	33	3	265	3	FBXO5	6	153293413	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	506201	153293413	17821654	824	20964										
FBXO5	26271	genome.wustl.edu	37	chr6	153296192	153296192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaaatttcctctggctataAtttccttcagcatctcccga	4	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:153296192A>C	ENST00000229758.3	-	2	726	c.668T>G	c.(667-669)aTt>aGt	p.I223S	FBXO5_ENST00000367241.3_Missense_Mutation_p.I177S|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	223	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TCTGGCTATAATTTCCTTCAG	0.373																																					NSCLC(121;372 1757 17721 17977 29669)												0													88	92	91					6																	153296192		2203	4300	6503	SO:0001583	missense	26271			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.668T>G	6.37:g.153296192A>C	ENSP00000229758:p.Ile223Ser		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.I223S	ENST00000229758.3	37	c.668	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	A	4.265	0.048277	0.08243	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.49432	0.78;0.78	5.92	2.03	0.26663	.	1.072030	0.07176	N	0.853231	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.31125	0.309	B	0.22386	0.039	T	0.28586	-1.0039	10	0.72032	D	0.01	-0.5413	2.9952	0.05996	0.6347:0.1139:0.128:0.1233	.	223	Q9UKT4	FBX5_HUMAN	S	223;177	ENSP00000229758:I223S;ENSP00000356210:I177S	ENSP00000229758:I223S	I	-	2	0	FBXO5	153337885	0.628000	0.27138	0.023000	0.16930	0.030000	0.12068	2.440000	0.44855	0.093000	0.17368	-0.256000	0.11100	ATT	FBXO5	-	NULL		0.373	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	HGNC	protein_coding	OTTHUMT00000042757.1	A			153296192	-1	no_errors	ENST00000229758	ensembl	human	known	70_37	missense	SNP	0.031	C	C	153296192	A	C	153296192	3	2	131	1	0	0	0	0	1	0	0	0	5776	101	4	5	691	5	FBXO5	6	153296192	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2779	153296192	17818875	825	20965										
RGS17	26575	genome.wustl.edu	37	chr6	153332806	153332806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatctctgtgcattaaagtaTatatctgaagttgggcatct	8	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:153332806T>C	ENST00000367225.2	-	4	560	c.536A>G	c.(535-537)tAt>tGt	p.Y179C	RGS17_ENST00000206262.1_Missense_Mutation_p.Y179C			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	179	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CATTAAAGTATATATCTGAAG	0.353																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												0													60	61	60					6																	153332806		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.536A>G	6.37:g.153332806T>C	ENSP00000356194:p.Tyr179Cys		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Y179C	ENST00000367225.2	37	c.536	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907655	0.72868	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.34072	1.38;1.38	5.19	5.19	0.71726	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79569	-0.1749	10	0.87932	D	0	-14.785	15.3814	0.74658	0.0:0.0:0.0:1.0	.	179	Q9UGC6	RGS17_HUMAN	C	179	ENSP00000356194:Y179C;ENSP00000206262:Y179C	ENSP00000206262:Y179C	Y	-	2	0	RGS17	153374499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.954000	0.87848	2.089000	0.63090	0.451000	0.29950	TAT	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.353	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	T			153332806	-1	no_errors	ENST00000206262	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153332806	T	C	153332806	3	2	131	1	0	0	0	0	1	0	0	0	13329	1406	49	5	100	5	RGS17	6	153332806	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	36614	153332806	17782261	826	20966										
TIAM2	26230	genome.wustl.edu	37	chr6	155565812	155565812	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggagtcactttttggaagTttgccagagatgcttgagtt	12	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:155565812T>G	ENST00000461783.3	+	20	4711	c.3438T>G	c.(3436-3438)agT>agG	p.S1146R	TIAM2_ENST00000456877.2_Missense_Mutation_p.S458R|TIAM2_ENST00000456144.1_Missense_Mutation_p.S1146R|TIAM2_ENST00000529824.2_Missense_Mutation_p.S1146R|TIAM2_ENST00000275246.7_Missense_Mutation_p.S71R|TIAM2_ENST00000318981.5_Missense_Mutation_p.S1146R|TIAM2_ENST00000528391.2_Missense_Mutation_p.S482R|TIAM2_ENST00000360366.4_Missense_Mutation_p.S1170R|TIAM2_ENST00000367174.2_Missense_Mutation_p.S522R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1146	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTTTTGGAAGTTTGCCAGAGA	0.453																																																	0													160	155	157					6																	155565812		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3438T>G	6.37:g.155565812T>G	ENSP00000437188:p.Ser1146Arg		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S1146R	ENST00000461783.3	37	c.3438	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134665	0.77662	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.03	4.93	-2.64	0.06114	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.35341	1.055	0.40040	D	0.975645	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.91635	0.969;0.999;0.999;0.999	T	0.67023	-0.5775	10	0.87932	D	0	.	13.8458	0.63466	0.0:0.5853:0.0:0.4147	.	482;1146;1170;1146	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	1146;1392;1146;1146;1146;522;1170;1146;458;482;71;84	ENSP00000437188:S1146R;ENSP00000434901:S1146R;ENSP00000407746:S1146R;ENSP00000327315:S1146R;ENSP00000356142:S522R;ENSP00000353528:S1170R;ENSP00000433348:S1146R;ENSP00000407183:S458R;ENSP00000435335:S482R;ENSP00000275246:S71R;ENSP00000431269:S84R	ENSP00000275246:S71R	S	+	3	2	TIAM2	155607504	0.709000	0.27886	0.722000	0.30670	0.999000	0.98932	-0.038000	0.12144	-0.401000	0.07644	0.533000	0.62120	AGT	TIAM2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.453	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	T	NM_012454		155565812	1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	0.968	G	G	155565812	T	G	155565812	3	3	131	1	0	0	0	0	1	0	0	0	15921	1722	60	5	3496	5	TIAM2	6	155565812	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2233006	155565812	15549255	827	20967										
NOX3	50508	genome.wustl.edu	37	chr6	155761194	155761194	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgaactcagttgacgaggtCatgatcaagactaaagccag	10	8	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:155761194C>A	ENST00000159060.2	-	6	666	c.564G>T	c.(562-564)atG>atT	p.M188I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	188	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTGACGAGGTCATGATCAAGA	0.453																																																	0													150	137	142					6																	155761194		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.564G>T	6.37:g.155761194C>A	ENSP00000159060:p.Met188Ile		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.M188I	ENST00000159060.2	37	c.564	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075482	0.01903	.	.	ENSG00000074771	ENST00000159060	D	0.90385	-2.66	5.83	1.89	0.25635	Flavoprotein transmembrane component (1);	0.561272	0.19586	N	0.110726	T	0.49983	0.1589	N	0.02403	-0.565	0.36507	D	0.869388	B	0.02656	0.0	B	0.06405	0.002	T	0.43845	-0.9366	10	0.07325	T	0.83	-8.8245	4.1067	0.10040	0.1229:0.5217:0.2392:0.1161	.	188	Q9HBY0	NOX3_HUMAN	I	188	ENSP00000159060:M188I	ENSP00000159060:M188I	M	-	3	0	NOX3	155802886	0.998000	0.40836	0.999000	0.59377	0.286000	0.27126	0.580000	0.23803	0.749000	0.32854	0.650000	0.86243	ATG	NOX3	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain		0.453	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	C			155761194	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155761194	C	A	155761194	3	1	131	1	0	0	0	0	1	0	0	0	10581	826	29	3	1174	3	NOX3	6	155761194	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	195382	155761194	15353873	828	20968										
ARID1B	57492	genome.wustl.edu	37	chr6	157519969	157519969	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaccttatgggcagcagtaTccaggccaaggccctccctc	10	15	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:157519969T>G	ENST00000350026.5	+	16	4000	c.3999T>G	c.(3997-3999)taT>taG	p.Y1333*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y1328*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y1386*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Y1346*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1333					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCAGCAGTATCCAGGCCAAG	0.547																																																	0													23	26	25					6																	157519969		2203	4296	6499	SO:0001587	stop_gained	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3999T>G	6.37:g.157519969T>G	ENSP00000055163:p.Tyr1333*		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y1386*	ENST00000350026.5	37	c.4158	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	T	42	9.812925	0.99270	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.84	-1.08	0.09936	.	0.060133	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5112	0.44864	0.0:0.5062:0.0:0.4938	.	.	.	.	X	1346;1333;1386;1328;855	.	ENSP00000275248:Y1328X	Y	+	3	2	ARID1B	157561661	0.982000	0.34865	0.990000	0.47175	0.998000	0.95712	0.130000	0.15850	-0.386000	0.07821	0.533000	0.62120	TAT	ARID1B	-	NULL		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	T	NM_020732		157519969	1	no_errors	ENST00000367148	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	157519969	T	G	157519969	4	3	131	1	0	0	0	0	0	1	0	0	914	1442	50	5	4104	5	ARID1B	6	157519969	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1758775	157519969	13595098	829	20969										
TULP4	56995	genome.wustl.edu	37	chr6	158910645	158910645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctatgggaacagcttgatTtctactgtgatcgacagctg	10	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:158910645T>G	ENST00000367097.3	+	9	2869	c.1512T>G	c.(1510-1512)atT>atG	p.I504M	TULP4_ENST00000367094.2_Missense_Mutation_p.I504M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	504					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACAGCTTGATTTCTACTGTGA	0.433																																																	0													144	134	137					6																	158910645		2203	4300	6503	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1512T>G	6.37:g.158910645T>G	ENSP00000356064:p.Ile504Met		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I504M	ENST00000367097.3	37	c.1512	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202733	0.58234	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61980	0.06;0.9	5.57	0.158	0.14942	.	0.099907	0.64402	D	0.000002	T	0.55689	0.1936	L	0.44542	1.39	0.43110	D	0.994814	D;B	0.65815	0.995;0.368	D;B	0.74674	0.984;0.356	T	0.56129	-0.8030	10	0.44086	T	0.13	-6.6904	9.414	0.38510	0.0:0.4101:0.0:0.5899	.	504;504	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	M	504	ENSP00000356064:I504M;ENSP00000356061:I504M	ENSP00000356061:I504M	I	+	3	3	TULP4	158830633	0.959000	0.32827	0.952000	0.39060	0.938000	0.57974	0.033000	0.13754	-0.198000	0.10333	0.533000	0.62120	ATT	TULP4	-	NULL		0.433	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	T	NM_020245		158910645	1	no_errors	ENST00000367097	ensembl	human	known	70_37	missense	SNP	1.000	G	G	158910645	T	G	158910645	3	3	131	1	0	0	0	0	1	0	0	0	16807	1829	64	5	1546	5	TULP4	6	158910645	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1390676	158910645	12204422	830	20970										
EZR	7430	genome.wustl.edu	37	chr6	159190421	159190421	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcctcttccaggagggcaatCttggcagtgtattctgcaag	12	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:159190421C>A	ENST00000367075.3	-	12	1449	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	EZR_ENST00000392177.4_Missense_Mutation_p.K395N|EZR_ENST00000337147.7_Missense_Mutation_p.K427N	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	427	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GGAGGGCAATCTTGGCAGTGT	0.572			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													79	68	72					6																	159190421		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1281G>T	6.37:g.159190421C>A	ENSP00000356042:p.Lys427Asn		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.K427N	ENST00000367075.3	37	c.1281	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234882	0.79800	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83335	-1.71;-1.71;-1.71	5.25	5.25	0.73442	Ezrin/radixin/moesin, C-terminal (1);	0.273232	0.42053	D	0.000778	T	0.69700	0.3140	L	0.58810	1.83	0.58432	D	0.999994	B;B	0.15141	0.001;0.012	B;B	0.21151	0.008;0.033	T	0.66476	-0.5914	10	0.23891	T	0.37	.	12.2414	0.54544	0.0:0.9224:0.0:0.0776	.	395;427	E7EQR4;P15311	.;EZRI_HUMAN	N	427;427;395	ENSP00000338934:K427N;ENSP00000356042:K427N;ENSP00000376016:K395N	ENSP00000338934:K427N	K	-	3	2	EZR	159110409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.236000	0.51336	2.455000	0.83008	0.561000	0.74099	AAG	EZR	-	pirsf_ERM,pfam_ERM_C		0.572	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159190421	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	159190421	C	A	159190421	3	1	131	1	0	0	0	0	1	0	0	0	5347	912	32	3	491	3	EZR	6	159190421	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	279776	159190421	11924646	831	20971										
TAGAP	117289	genome.wustl.edu	37	chr6	159457048	159457048	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagcatggacagttctgctCtgtttccatcgctcaggcag	11	11	3	0	rs200804434		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:159457048C>A	ENST00000367066.3	-	10	2338	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.Q491H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	669					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAGTTCTGCTCTGTTTCCATC	0.622																																																	0													89	80	83					6																	159457048		2203	4300	6503	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2007G>T	6.37:g.159457048C>A	ENSP00000356033:p.Gln669His		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q669H	ENST00000367066.3	37	c.2007	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258692	0.23051	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.18657	2.2;2.45	5.2	-2.58	0.06228	.	1.214920	0.05670	N	0.588520	T	0.05364	0.0142	L	0.43701	1.375	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.40739	-0.9547	10	0.31617	T	0.26	-1.6634	5.9947	0.19487	0.0:0.3504:0.3539:0.2956	.	669	Q8N103	TAGAP_HUMAN	H	669;491	ENSP00000356033:Q669H;ENSP00000322650:Q491H	ENSP00000322650:Q491H	Q	-	3	2	TAGAP	159377036	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.271000	0.08572	-0.658000	0.05366	0.563000	0.77884	CAG	TAGAP	-	NULL		0.622	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	C	NM_054114		159457048	-1	no_errors	ENST00000367066	ensembl	human	known	70_37	missense	SNP	0.004	A	A	159457048	C	A	159457048	3	1	131	1	0	0	0	0	1	0	0	0	15567	912	32	3	192	3	TAGAP	6	159457048	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	266627	159457048	11658019	832	20972										
PLG	5340	genome.wustl.edu	37	chr6	161174003	161174003	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaggagtcacttcttggggTcttggctgtgcacgccccaa	12	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:161174003T>C	ENST00000308192.9	+	19	2406	c.2343T>C	c.(2341-2343)ggT>ggC	p.G781G		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	781	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTCTTGGGGTCTTGGCTGTG	0.453																																																	0													63	61	61					6																	161174003		2203	4294	6497	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2343T>C	6.37:g.161174003T>C			Q15146|Q5TEH4|Q6PA00	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G781	ENST00000308192.9	37	c.2343	CCDS5279.1	6																																																																																			PLG	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Peptidase_S1_S6		0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	T	NM_000301		161174003	1	no_errors	ENST00000308192	ensembl	human	known	70_37	silent	SNP	1.000	C	C	161174003	T	C	161174003	2	2	131	1	0	0	0	0	0	0	0	1	12110	1654	58	5		5	PLG	6	161174003	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1716955	161174003	9941064	833	20973										
MAP3K4	4216	genome.wustl.edu	37	chr6	161470031	161470031	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctcagtctcaaagaaaaaaGacagggagcaaagaggacaa	10	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:161470031G>T	ENST00000392142.4	+	3	875	c.727G>T	c.(727-729)Gac>Tac	p.D243Y	MAP3K4_ENST00000348824.7_Missense_Mutation_p.D243Y|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D243Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D243Y	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	243					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGAAAAAAGACAGGGAGCA	0.443																																																	0													44	44	44					6																	161470031		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.727G>T	6.37:g.161470031G>T	ENSP00000375986:p.Asp243Tyr		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.D243Y	ENST00000392142.4	37	c.727	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488741	0.84962	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.14	6.14	0.99180	.	0.059810	0.64402	D	0.000003	T	0.74084	0.3670	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.67145	0.995;0.996	P;P	0.61800	0.894;0.851	T	0.74890	-0.3510	10	0.72032	D	0.01	-41.4869	20.819	0.99723	0.0:0.0:1.0:0.0	.	243;243	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	Y	243	ENSP00000355886:D243Y;ENSP00000375986:D243Y;ENSP00000355887:D243Y;ENSP00000297332:D243Y	ENSP00000297332:D243Y	D	+	1	0	MAP3K4	161390021	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.432000	0.97498	2.927000	0.99377	0.637000	0.83480	GAC	MAP3K4	-	NULL		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	G			161470031	1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	T	T	161470031	G	T	161470031	3	4	131	1	0	0	0	0	1	0	0	0	9275	942	33	3	737	3	MAP3K4	6	161470031	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	296028	161470031	9645036	834	20974										
AGPAT4	56895	genome.wustl.edu	37	chr6	161587300	161587300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccctaacagcccaaagcgttCggacaggctccagccacaca	8	17	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:161587300C>T	ENST00000320285.4	-	3	540	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.E110K|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E48K|AGPAT4_ENST00000366905.3_Missense_Mutation_p.E110K|AGPAT4_ENST00000366911.5_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	110					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCAAAGCGTTCGGACAGGCTC	0.527																																																	0													66	56	59					6																	161587300		2203	4300	6503	SO:0001583	missense	56895			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.328G>A	6.37:g.161587300C>T	ENSP00000314036:p.Glu110Lys		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E110K	ENST00000320285.4	37	c.328	CCDS5280.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606847	0.87157	.	.	ENSG00000026652	ENST00000320285;ENST00000366908;ENST00000366906;ENST00000366905	D;D	0.91180	-2.8;-2.8	4.74	4.74	0.60224	Phospholipid/glycerol acyltransferase (2);	0.180212	0.49916	D	0.000136	D	0.92567	0.7639	M	0.87900	2.915	0.80722	D	1	D;D	0.57571	0.98;0.967	P;P	0.48795	0.59;0.536	D	0.93973	0.7251	10	0.87932	D	0	-13.2101	17.9347	0.89009	0.0:1.0:0.0:0.0	.	110;110	B4DHC0;Q9NRZ5	.;PLCD_HUMAN	K	110;110;48;110	ENSP00000314036:E110K;ENSP00000355873:E48K	ENSP00000314036:E110K	E	-	1	0	AGPAT4	161507290	1.000000	0.71417	0.610000	0.28997	0.548000	0.35241	7.500000	0.81588	2.466000	0.83321	0.650000	0.86243	GAA	AGPAT4	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.527	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1	C	NM_020133		161587300	-1	no_errors	ENST00000320285	ensembl	human	known	70_37	missense	SNP	0.733	T	T	161587300	C	T	161587300	3	4	131	1	0	0	0	0	1	0	0	0	389	893	31	1	836	1	AGPAT4	6	161587300	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	117269	161587300	9527767	835	20975										
C6orf118	168090	genome.wustl.edu	37	chr6	165703536	165703536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtaagtcggttttcatcaaTtatatgtttctcagatgatt	7	5	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:165703536T>G	ENST00000230301.8	-	7	1161	c.1141A>C	c.(1141-1143)Att>Ctt	p.I381L	C6orf118_ENST00000494696.2_5'UTR|C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	381										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTTCATCAATTATATGTTTC	0.279																																																	0													52	52	52					6																	165703536		2203	4295	6498	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1141A>C	6.37:g.165703536T>G	ENSP00000230301:p.Ile381Leu		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.I381L	ENST00000230301.8	37	c.1141	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	T	8.481	0.859782	0.17178	.	.	ENSG00000112539	ENST00000230301	T	0.11712	2.75	5.44	-5.33	0.02713	.	1.819900	0.02307	N	0.071740	T	0.01940	0.0061	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36817	-0.9732	10	0.10636	T	0.68	0.0085	6.8546	0.24034	0.0:0.3648:0.41:0.2252	.	381	Q5T5N4	CF118_HUMAN	L	381	ENSP00000230301:I381L	ENSP00000230301:I381L	I	-	1	0	C6orf118	165623526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.761000	0.04751	-0.745000	0.04772	0.528000	0.53228	ATT	C6orf118	-	NULL		0.279	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	T	NM_144980		165703536	-1	no_errors	ENST00000230301	ensembl	human	known	70_37	missense	SNP	0.000	G	G	165703536	T	G	165703536	3	3	131	1	0	0	0	0	1	0	0	0	2328	1493	52	5	280	5	C6orf118	6	165703536	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4116236	165703536	5411531	836	20976										
TTLL2	83887	genome.wustl.edu	37	chr6	167754124	167754124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcagaaatatatctccaatCctttacttattggcagatat	5	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167754124C>A	ENST00000239587.5	+	3	824	c.736C>A	c.(736-738)Cct>Act	p.P246T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	246	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TATCTCCAATCCTTTACTTAT	0.383																																																	0													143	144	143					6																	167754124		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.736C>A	6.37:g.167754124C>A	ENSP00000239587:p.Pro246Thr		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.P246T	ENST00000239587.5	37	c.736	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176232	0.21704	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.68181	-0.31	3.4	1.51	0.23008	.	0.087235	0.45606	D	0.000356	T	0.79644	0.4481	H	0.96430	3.82	0.36546	D	0.87154	D	0.89917	1.0	D	0.87578	0.998	T	0.79017	-0.1975	10	0.87932	D	0	.	6.3048	0.21133	0.1823:0.7143:0.0:0.1034	.	246	Q9BWV7	TTLL2_HUMAN	T	246;173	ENSP00000239587:P246T	ENSP00000239587:P246T	P	+	1	0	TTLL2	167674114	1.000000	0.71417	0.563000	0.28383	0.028000	0.11728	2.074000	0.41529	0.223000	0.20920	-0.350000	0.07774	CCT	TTLL2	-	pfam_Tub_tyr_ligase		0.383	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	C	NM_031949		167754124	1	no_errors	ENST00000239587	ensembl	human	known	70_37	missense	SNP	0.992	A	A	167754124	C	A	167754124	3	1	131	1	0	0	0	0	1	0	0	0	16758	855	30	3	746	3	TTLL2	6	167754124	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2050588	167754124	3360943	837	20977										
TCP10	6953	genome.wustl.edu	37	chr6	167786670	167786670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccaggtcagggccccatgTcctgtctggagggagcggcg	16	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167786670T>C	ENST00000397829.4	-	8	1135	c.968A>G	c.(967-969)gAc>gGc	p.D323G	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	350						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGCCCCATGTCCTGTCTGGA	0.527																																																	0													68	75	73					6																	167786670		1858	4095	5953	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.968A>G	6.37:g.167786670T>C	ENSP00000380929:p.Asp323Gly		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.D323G	ENST00000397829.4	37	c.968	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	t	3.247	-0.154163	0.06585	.	.	ENSG00000203690	ENST00000397829	T	0.29655	1.56	1.53	1.53	0.23141	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37888	-0.9686	9	0.87932	D	0	.	5.0659	0.14582	0.0:0.0:0.6503:0.3497	.	350	Q12799	TCP10_HUMAN	G	323	ENSP00000380929:D323G	ENSP00000380929:D323G	D	-	2	0	TCP10	167706660	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.625000	0.02036	0.211000	0.20683	-0.366000	0.07423	GAC	TCP10	-	NULL		0.527	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	T	NM_004610		167786670	-1	no_errors	ENST00000397829	ensembl	human	known	70_37	missense	SNP	0.001	C	C	167786670	T	C	167786670	3	2	131	1	0	0	0	0	1	0	0	0	15740	1667	58	5	16	5	TCP10	6	167786670	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	32546	167786670	3328397	838	20978										
PDCD2	5134	genome.wustl.edu	37	chr6	170892755	170892755	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagctggagacacactgattCtcctgtttctgggggaggat	13	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:170892755C>A	ENST00000541970.1	-	2	442	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PDCD2_ENST00000542896.1_Nonsense_Mutation_p.E122*|PDCD2_ENST00000392090.2_Nonsense_Mutation_p.E89*|PDCD2_ENST00000443345.2_Nonsense_Mutation_p.E89*|PDCD2_ENST00000453163.2_Nonsense_Mutation_p.E122*|PDCD2_ENST00000537445.1_Nonsense_Mutation_p.E89*	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	122					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CACACTGATTCTCCTGTTTCT	0.438																																					Colon(60;1476 1726 39478)												0													65	63	64					6																	170892755		2203	4300	6503	SO:0001587	stop_gained	5134			AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"Zinc fingers, MYND-type"	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.364G>T	6.37:g.170892755C>A	ENSP00000439467:p.Glu122*		E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Nonsense_Mutation	SNP	pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND	p.E122*	ENST00000541970.1	37	c.364	CCDS5316.1	6	.	.	.	.	.	.	.	.	.	.	.	28.5	4.928552	0.92389	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000453163;ENST00000537445;ENST00000443345	.	.	.	4.77	1.98	0.26296	.	0.937055	0.09023	N	0.859844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.066	6.5029	0.22178	0.0:0.5583:0.2788:0.1629	.	.	.	.	X	122;89;122;122;89;89	.	.	E	-	1	0	PDCD2	170734680	0.000000	0.05858	0.001000	0.08648	0.955000	0.61496	0.662000	0.25038	0.100000	0.17581	-0.241000	0.12123	GAA	PDCD2	-	NULL		0.438	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2	HGNC	protein_coding	OTTHUMT00000043269.2	C	NM_002598		170892755	-1	no_errors	ENST00000541970	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	170892755	C	A	170892755	4	1	131	1	0	0	0	0	0	1	0	0	11643	922	32	3	719	3	PDCD2	6	170892755	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3106085	170892755	222312	839	20979										
SUN1	23353	genome.wustl.edu	37	chr7	892253	892253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgttactcccaggtgccttCgaaacatctgcaagttttta	7	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:892253C>T	ENST00000405266.1	+	9	994	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SUN1_ENST00000425407.2_Nonsense_Mutation_p.R204*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.R185*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.R204*|SUN1_ENST00000456758.2_Nonsense_Mutation_p.R476*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.R96*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.R287*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	314					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.R204*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTGCCTTCGAAACATCTG	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											145	137	140					7																	892253		1855	4105	5960	SO:0001587	stop_gained	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.970C>T	7.37:g.892253C>T	ENSP00000384116:p.Arg324*		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Nonsense_Mutation	SNP	pfam_RNA-bd_mt,pfam_Sad1_UNC_C	p.R476*	ENST00000405266.1	37	c.1426		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.306572|4.306572	0.81247|0.81247	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000450881;ENST00000429178;ENST00000413514|ENST00000433212	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.231863|.	0.45126|.	D|.	0.000389|.	.|T	.|0.63651	.|0.2529	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68796	.|-0.5314	.|3	0.21014|.	T|.	0.42|.	-17.9323|-17.9323	13.0845|13.0845	0.59132|0.59132	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	.|.	.|.	.|.	X|L	476;204;185;324;287;314;204;160;212;96|135	.|.	ENSP00000297445:R314X|.	R|S	+|+	1|2	2|0	SUN1|SUN1	858779|858779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	3.899000|3.899000	0.56288|0.56288	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	CGA|TCG	SUN1	-	pfam_RNA-bd_mt		0.418	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	SUN1	HGNC	protein_coding	OTTHUMT00000322566.1	C	NM_025154		892253	1	no_errors	ENST00000456758	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	892253	C	T	892253	4	4	131	1	0	0	0	0	0	1	0	0	15421	876	31	1	1072	1	SUN1	7	892253	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		892253	158246410	840	20980										
GPER	2852	genome.wustl.edu	37	chr7	1131452	1131452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccccaacaccacctcccccGagctcaacctgtcccacccg	4	25	1	0	rs201954771		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:1131452G>A	ENST00000297469.3	+	2	779	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.E30K|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.E30K	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	30					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CACCTCCCCCGAGCTCAACCT	0.672													G|||	1	0.000199681	0	0	5008	,	,		15039	0		0.001	False		,,,				2504	0																0									LYS/GLU,LYS/GLU,,,LYS/GLU,	0,4404		0,0,2202	45	44	44		88,88,,,88,	4.6	0	7		44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,intron,missense,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	56,56,,,56,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,,benign,	30/376,30/376,,,30/376,	1131452	1,13003	2202	4300	6502	SO:0001583	missense	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.88G>A	7.37:g.1131452G>A	ENSP00000297469:p.Glu30Lys		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E30K	ENST00000297469.3	37	c.88	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239351	0.39598	0.0	1.16E-4	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.67698	-0.28;0.86;-0.28;-0.28;-0.28	4.63	4.63	0.57726	.	0.400119	0.21712	N	0.070254	T	0.47525	0.1450	L	0.27053	0.805	0.09310	N	1	B	0.27416	0.178	B	0.17098	0.017	T	0.23440	-1.0188	10	0.13470	T	0.59	.	10.1473	0.42771	0.1044:0.0:0.8956:0.0	.	30	Q99527	GPER_HUMAN	K	30	ENSP00000385151:E30K;ENSP00000410487:E30K;ENSP00000380281:E30K;ENSP00000297469:E30K;ENSP00000380277:E30K	ENSP00000297469:E30K	E	+	1	0	GPER	1097978	0.092000	0.21681	0.003000	0.11579	0.003000	0.03518	1.538000	0.36094	2.144000	0.66660	0.655000	0.94253	GAG	GPER	-	NULL		0.672	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	HGNC	protein_coding	OTTHUMT00000060001.1	G	NM_001039966		1131452	1	no_errors	ENST00000297469	ensembl	human	known	70_37	missense	SNP	0.074	A	A	1131452	G	A	1131452	3	1	131	1	0	0	0	0	1	0	0	0	6626	1059	37	1	90	1	GPER	7	1131452	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	239199	1131452	158007211	841	20981										
CARD11	84433	genome.wustl.edu	37	chr7	2974166	2974166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtcttcaggtgactcctccGaggtggaagaatcgtcagct	12	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:2974166G>A	ENST00000396946.4	-	10	1842	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	480					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGACTCCTCCGAGGTGGAAGA	0.582			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													113	97	102					7																	2974166		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1439C>T	7.37:g.2974166G>A	ENSP00000380150:p.Ser480Leu		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.S480L	ENST00000396946.4	37	c.1439	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048719	0.55110	.	.	ENSG00000198286	ENST00000396946	T	0.50277	0.75	5.22	5.22	0.72569	.	0.359620	0.26677	N	0.023077	T	0.35537	0.0935	N	0.22421	0.69	0.53688	D	0.999973	B	0.29716	0.255	B	0.18561	0.022	T	0.19778	-1.0295	10	0.51188	T	0.08	-14.9062	17.7627	0.88469	0.0:0.0:1.0:0.0	.	480	Q9BXL7	CAR11_HUMAN	L	480	ENSP00000380150:S480L	ENSP00000380150:S480L	S	-	2	0	CARD11	2940692	1.000000	0.71417	0.804000	0.32291	0.258000	0.26162	6.560000	0.73950	2.458000	0.83093	0.561000	0.74099	TCG	CARD11	-	NULL		0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	G	NM_032415		2974166	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	0.991	A	A	2974166	G	A	2974166	3	1	131	1	0	0	0	0	1	0	0	0	2650	1059	37	1	2089	1	CARD11	7	2974166	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1842714	2974166	156164497	842	20982										
MMD2	221938	genome.wustl.edu	37	chr7	4959852	4959852	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaaacacagtggacaccacGaagaggccgcagaggccgag	14	11	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:4959852G>A	ENST00000404774.3	-	3	434	c.240C>T	c.(238-240)ttC>ttT	p.F80F	MMD2_ENST00000406755.1_Silent_p.F80F|MMD2_ENST00000401401.3_Silent_p.F80F	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	80						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TGGACACCACGAAGAGGCCGC	0.642																																																	0													34	39	37					7																	4959852		2017	4157	6174	SO:0001819	synonymous_variant	221938			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.240C>T	7.37:g.4959852G>A			B5MBW4|Q6NVU5|Q6TCH0	Silent	SNP	pfam_HlyIII-related	p.F80	ENST00000404774.3	37	c.240	CCDS47529.1	7																																																																																			MMD2	-	pfam_HlyIII-related		0.642	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	G	NM_198403		4959852	-1	no_errors	ENST00000404774	ensembl	human	known	70_37	silent	SNP	0.966	A	A	4959852	G	A	4959852	2	1	131	1	0	0	0	0	0	0	0	1	9667	1049	37	1		1	MMD2	7	4959852	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1985686	4959852	154178811	843	20983										
RNF216	54476	genome.wustl.edu	37	chr7	5780712	5780712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttgcattggaaaggctggAcctggctcttcatcatcact	9	11	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:5780712A>G	ENST00000425013.2	-	4	989	c.765T>C	c.(763-765)ggT>ggC	p.G255G	RNF216_ENST00000389902.3_Silent_p.G312G	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	255					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GAAAGGCTGGACCTGGCTCTT	0.502																																																	0													81	82	82					7																	5780712		2203	4300	6503	SO:0001819	synonymous_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.765T>C	7.37:g.5780712A>G			Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	smart_Znf_C6HC	p.G312	ENST00000425013.2	37	c.936	CCDS34595.1	7																																																																																			RNF216	-	NULL		0.502	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	A	NM_207111		5780712	-1	no_errors	ENST00000389902	ensembl	human	known	70_37	silent	SNP	0.537	G	G	5780712	A	G	5780712	2	3	131	1	0	0	0	0	0	0	0	1	13510	262	10	5		5	RNF216	7	5780712	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	820860	5780712	153357951	844	20984										
ICA1	3382	genome.wustl.edu	37	chr7	8268265	8268265	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgatagagtacaattgctttCgataagtccagacaggttct	9	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:8268265C>T	ENST00000402384.3	-	4	488	c.222G>A	c.(220-222)tcG>tcA	p.S74S	ICA1_ENST00000396675.3_Silent_p.S74S|ICA1_ENST00000406470.2_Silent_p.S74S|ICA1_ENST00000401396.1_Silent_p.S62S|ICA1_ENST00000265577.7_Silent_p.S73S|ICA1_ENST00000407906.1_Silent_p.S74S|ICA1_ENST00000422063.2_Silent_p.S74S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	74	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CAATTGCTTTCGATAAGTCCA	0.294																																																	0													102	94	97					7																	8268265		2201	4298	6499	SO:0001819	synonymous_variant	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.222G>A	7.37:g.8268265C>T			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.S74	ENST00000402384.3	37	c.222	CCDS34602.1	7																																																																																			ICA1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.294	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8268265	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8268265	C	T	8268265	2	4	131	1	0	0	0	0	0	0	0	1	7497	871	31	1		1	ICA1	7	8268265	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2487553	8268265	150870398	845	20985										
THSD7A	221981	genome.wustl.edu	37	chr7	11450835	11450835	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taacacagcatccacctaccGcttcacaatatttcaggtca	4	14	3	0	rs200932314		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:11450835G>A	ENST00000423059.4	-	19	4048	c.3797C>T	c.(3796-3798)gCg>gTg	p.A1266V	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1266	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCACCTACCGCTTCACAATA	0.438										HNSCC(18;0.044)																																							0													164	154	157					7																	11450835		2029	4174	6203	SO:0001630	splice_region_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3798+1C>T	7.37:g.11450835G>A				Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.A1266V	ENST00000423059.4	37	c.3797	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140528	0.37825	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61158	0.13	5.81	4.66	0.58398	.	0.091907	0.85682	D	0.000000	T	0.37544	0.1007	N	0.08118	0	0.26387	N	0.976649	B	0.23891	0.093	B	0.24848	0.056	T	0.20371	-1.0277	10	0.27785	T	0.31	.	13.3715	0.60715	0.0:0.0:0.1319:0.8681	.	1266	Q9UPZ6	THS7A_HUMAN	V	1266	ENSP00000406482:A1266V	ENSP00000262042:A1266V	A	-	2	0	THSD7A	11417360	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	4.169000	0.58223	1.025000	0.39708	-0.346000	0.07831	GCG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.438	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2	Missense_Mutation	11450835	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11450835	G	A	11450835	5	1	131	1	0	0	0	0	0	0	1	0	15909	1101	38	2	1216	2	THSD7A	7	11450835	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3182570	11450835	147687828	846	20986										
TSPAN13	27075	genome.wustl.edu	37	chr7	16816705	16816705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttgtatttattgttcagttTtctgtatcttgcgcttgttt	7	6	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:16816705T>G	ENST00000262067.4	+	3	703	c.270T>G	c.(268-270)ttT>ttG	p.F90L	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	90						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TTGTTCAGTTTTCTGTATCTT	0.323																																																	0													122	115	118					7																	16816705		2203	4300	6503	SO:0001583	missense	27075			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.270T>G	7.37:g.16816705T>G	ENSP00000262067:p.Phe90Leu			Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.F90L	ENST00000262067.4	37	c.270	CCDS5363.1	7	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804808	0.50315	.	.	ENSG00000106537	ENST00000262067	T	0.74002	-0.8	5.61	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.39692	1.235	0.51233	D	0.999919	B	0.16603	0.018	B	0.20184	0.028	T	0.45600	-0.9250	10	0.05351	T	0.99	-11.3937	7.598	0.28058	0.1262:0.0685:0.0:0.8053	.	90	O95857	TSN13_HUMAN	L	90	ENSP00000262067:F90L	ENSP00000262067:F90L	F	+	3	2	TSPAN13	16783230	0.975000	0.34042	1.000000	0.80357	0.979000	0.70002	0.073000	0.14640	0.392000	0.25172	0.459000	0.35465	TTT	TSPAN13	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin		0.323	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN13	HGNC	protein_coding	OTTHUMT00000250178.2	T	NM_014399		16816705	1	no_errors	ENST00000262067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16816705	T	G	16816705	3	3	131	1	0	0	0	0	1	0	0	0	16668	1838	64	5	280	5	TSPAN13	7	16816705	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5365870	16816705	142321958	847	20987										
AHR	196	genome.wustl.edu	37	chr7	17379822	17379822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagatgcagtacaatccagtActgccaggccaacaggcatt	9	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:17379822A>G	ENST00000242057.4	+	10	3016	c.2373A>G	c.(2371-2373)gtA>gtG	p.V791V		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	791					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ACAATCCAGTACTGCCAGGCC	0.428																																																	0													56	58	57					7																	17379822		2176	4291	6467	SO:0001819	synonymous_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2373A>G	7.37:g.17379822A>G			A4D130|Q13728|Q13803|Q13804	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.V791	ENST00000242057.4	37	c.2373	CCDS5366.1	7																																																																																			AHR	-	NULL		0.428	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHR	HGNC	protein_coding	OTTHUMT00000314620.2	A	NM_001621		17379822	1	no_errors	ENST00000242057	ensembl	human	known	70_37	silent	SNP	0.000	G	G	17379822	A	G	17379822	2	3	131	1	0	0	0	0	0	0	0	1	416	378	14	5		5	AHR	7	17379822	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	563117	17379822	141758841	848	20988										
HDAC9	9734	genome.wustl.edu	37	chr7	18669010	18669010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaggtgcggtccaggttaaaAcagaaagtggcagagaggag	16	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:18669010A>C	ENST00000432645.2	+	6	693	c.693A>C	c.(691-693)aaA>aaC	p.K231N	HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.K203N|HDAC9_ENST00000441542.2_Missense_Mutation_p.K234N|HDAC9_ENST00000405010.3_Missense_Mutation_p.K231N|HDAC9_ENST00000406451.4_Missense_Mutation_p.K231N|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	231	Interaction with ETV6.|Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCAGGTTAAAACAGAAAGTGG	0.418																																																	0													56	55	56					7																	18669010		1910	4123	6033	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.693A>C	7.37:g.18669010A>C	ENSP00000410337:p.Lys231Asn		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K234N	ENST00000432645.2	37	c.702	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645533	0.67358	.	.	ENSG00000048052	ENST00000405010;ENST00000406451;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000341009	T;T;T;T;T	0.74209	-0.26;-0.7;-0.82;-0.79;-0.35	5.95	4.8	0.61643	.	0.000000	0.64402	D	0.000007	D	0.86443	0.5934	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.994;0.997;0.991;0.997;0.994;0.987;0.997;0.997	D	0.87628	0.2514	10	0.87932	D	0	-28.6217	11.7514	0.51852	0.9317:0.0:0.0683:0.0	.	203;231;234;234;231;203;231;231	C9JS87;Q9UKV0-4;Q68D71;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3	.;.;.;.;HDAC9_HUMAN;.;.;.	N	231;231;231;234;203;231	ENSP00000384382:K231N;ENSP00000384657:K231N;ENSP00000410337:K231N;ENSP00000408617:K234N;ENSP00000388568:K203N	ENSP00000339165:K231N	K	+	3	2	HDAC9	18635535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.426000	0.52778	1.083000	0.41159	0.460000	0.39030	AAA	HDAC9	-	pirsf_Histone_deAcase_II_euk		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	A			18669010	1	no_errors	ENST00000441542	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18669010	A	C	18669010	3	2	131	1	0	0	0	0	1	0	0	0	7034	40	2	5	724	5	HDAC9	7	18669010	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1289188	18669010	140469653	849	20989										
FERD3L	222894	genome.wustl.edu	37	chr7	19184566	19184566	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggccaggcggagggtctcGatccgggacagccttttctc	14	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:19184566G>A	ENST00000275461.3	-	1	478	c.420C>T	c.(418-420)atC>atT	p.I140I	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	140	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGAGGGTCTCGATCCGGGACA	0.567																																																	0													115	86	96					7																	19184566		2203	4300	6503	SO:0001819	synonymous_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.420C>T	7.37:g.19184566G>A			Q495K0	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.I140	ENST00000275461.3	37	c.420	CCDS5368.1	7																																																																																			FERD3L	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.567	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	G			19184566	-1	no_errors	ENST00000275461	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19184566	G	A	19184566	2	1	131	1	0	0	0	0	0	0	0	1	5834	1048	37	1		1	FERD3L	7	19184566	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	515556	19184566	139954097	850	20990										
MACC1	346389	genome.wustl.edu	37	chr7	20198624	20198624	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caactgcttttgtttaatttCtttcctttctccttctgtct	3	11	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:20198624C>A	ENST00000400331.5	-	5	1668	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*	MACC1_ENST00000332878.4_Nonsense_Mutation_p.E454*|MACC1_ENST00000589011.1_Nonsense_Mutation_p.E454*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	454					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGTTTAATTTCTTTCCTTTCT	0.338																																																	0													78	63	68					7																	20198624		2203	4299	6502	SO:0001587	stop_gained	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1360G>T	7.37:g.20198624C>A	ENSP00000383185:p.Glu454*		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.E454*	ENST00000400331.5	37	c.1360	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.099933	0.97281	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	.	.	.	5.57	5.57	0.84162	.	0.257562	0.44285	D	0.000475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.8948	8.9994	0.36072	0.0:0.766:0.1507:0.0832	.	.	.	.	X	454	.	ENSP00000328410:E454X	E	-	1	0	MACC1	20165149	1.000000	0.71417	0.957000	0.39632	0.602000	0.36980	1.581000	0.36558	2.609000	0.88269	0.591000	0.81541	GAA	MACC1	-	NULL		0.338	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	C	NM_182762		20198624	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	20198624	C	A	20198624	4	1	131	1	0	0	0	0	0	1	0	0	9166	922	32	3	1210	3	MACC1	7	20198624	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1014058	20198624	138940039	851	20991										
ABCB5	340273	genome.wustl.edu	37	chr7	20738062	20738062	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagtctctctattaaaaatTttaaagttaaacaagcctga	5	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:20738062T>G	ENST00000404938.2	+	17	2695	c.2043T>G	c.(2041-2043)atT>atG	p.I681M	ABCB5_ENST00000258738.6_Missense_Mutation_p.I236M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	681					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATTAAAAATTTTAAAGTTAA	0.348																																																	0													55	57	57					7																	20738062		2202	4296	6498	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2043T>G	7.37:g.20738062T>G	ENSP00000384881:p.Ile681Met		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I236M	ENST00000404938.2	37	c.708	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516532	0.44763	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.81415	-1.49;-1.49	5.55	-0.0831	0.13695	ABC transporter, transmembrane domain, type 1 (1);	0.088468	0.44902	D	0.000409	T	0.82144	0.4973	L	0.58354	1.805	0.34381	D	0.693069	P;D	0.58268	0.941;0.982	P;D	0.66196	0.715;0.942	T	0.81099	-0.1086	10	0.66056	D	0.02	.	3.6988	0.08375	0.2778:0.1824:0.0:0.5398	.	681;236	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	M	681;236	ENSP00000384881:I681M;ENSP00000258738:I236M	ENSP00000258738:I236M	I	+	3	3	ABCB5	20704587	0.997000	0.39634	0.997000	0.53966	0.463000	0.32649	0.643000	0.24750	0.108000	0.17862	0.482000	0.46254	ATT	ABCB5	-	superfamily_ABC_transptrTM_dom_typ1		0.348	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	T	NM_178559		20738062	1	no_errors	ENST00000258738	ensembl	human	known	70_37	missense	SNP	0.998	G	G	20738062	T	G	20738062	3	3	131	1	0	0	0	0	1	0	0	0	44	1829	64	5	2146	5	ABCB5	7	20738062	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	539438	20738062	138400601	852	20992										
DNAH11	8701	genome.wustl.edu	37	chr7	21675628	21675628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgaacttggtctcacctggAaagcatttttgtctgttcag	10	9	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21675628A>G	ENST00000409508.3	+	26	4671	c.4640A>G	c.(4639-4641)gAa>gGa	p.E1547G	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1552G|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1552	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCACCTGGAAAGCATTTTT	0.393									Kartagener syndrome																																								0													82	77	79					7																	21675628		1870	4109	5979	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4640A>G	7.37:g.21675628A>G	ENSP00000475939:p.Glu1547Gly		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1552G	ENST00000409508.3	37	c.4655		7	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840014	0.91117	.	.	ENSG00000105877	ENST00000328843	T	0.67523	-0.27	5.56	5.56	0.83823	Dynein heavy chain, domain-2 (1);	0.246296	0.40064	N	0.001183	T	0.72748	0.3499	.	.	.	0.50813	D	0.999893	D	0.53619	0.961	P	0.49922	0.626	T	0.77115	-0.2707	9	0.87932	D	0	.	14.6877	0.69062	1.0:0.0:0.0:0.0	.	1552	Q96DT5	DYH11_HUMAN	G	1552	ENSP00000330671:E1552G	ENSP00000330671:E1552G	E	+	2	0	DNAH11	21642153	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.861000	0.75478	2.098000	0.63641	0.528000	0.53228	GAA	DNAH11	-	pfam_Dynein_heavy_dom-2		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	A	NM_003777		21675628	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21675628	A	G	21675628	3	3	131	1	0	0	0	0	1	0	0	0	4609	246	9	5	4757	5	DNAH11	7	21675628	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	937566	21675628	137463035	853	20993										
DNAH11	8701	genome.wustl.edu	37	chr7	21677310	21677310	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctatgaaaaacttaaagatTtacagtccaggtaagaataa	6	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21677310T>G	ENST00000409508.3	+	27	4838	c.4807T>G	c.(4807-4809)Tta>Gta	p.L1603V	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1608V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1608	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTAAAGATTTACAGTCCAG	0.303									Kartagener syndrome																																								0													58	55	56					7																	21677310		1814	4060	5874	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4807T>G	7.37:g.21677310T>G	ENSP00000475939:p.Leu1603Val		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1608V	ENST00000409508.3	37	c.4822		7	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049174	0.55110	.	.	ENSG00000105877	ENST00000328843	T	0.63417	-0.04	5.97	4.8	0.61643	Dynein heavy chain, domain-2 (1);	0.073664	0.52532	D	0.000066	T	0.68274	0.2983	.	.	.	0.40158	D	0.977032	P	0.45715	0.865	P	0.51833	0.681	T	0.72401	-0.4305	9	0.62326	D	0.03	.	11.5495	0.50713	0.0:0.0726:0.0:0.9273	.	1608	Q96DT5	DYH11_HUMAN	V	1608	ENSP00000330671:L1608V	ENSP00000330671:L1608V	L	+	1	2	DNAH11	21643835	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.576000	0.23744	2.285000	0.76669	0.528000	0.53228	TTA	DNAH11	-	pfam_Dynein_heavy_dom-2		0.303	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	T	NM_003777		21677310	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21677310	T	G	21677310	3	3	131	1	0	0	0	0	1	0	0	0	4609	1838	64	5	4928	5	DNAH11	7	21677310	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1682	21677310	137461353	854	20994										
DNAH11	8701	genome.wustl.edu	37	chr7	21904205	21904205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaattggatttcctgcttcGattcacagttgaacacactc	7	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21904205G>T	ENST00000409508.3	+	70	11457	c.11426G>T	c.(11425-11427)cGa>cTa	p.R3809L	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3816L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3816					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCCTGCTTCGATTCACAGTT	0.363									Kartagener syndrome																																								0													132	126	128					7																	21904205		1860	4102	5962	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11426G>T	7.37:g.21904205G>T	ENSP00000475939:p.Arg3809Leu		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3816L	ENST00000409508.3	37	c.11447		7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250485	0.80024	.	.	ENSG00000105877	ENST00000328843	T	0.63096	-0.02	5.31	5.31	0.75309	.	0.120411	0.56097	D	0.000022	T	0.73442	0.3587	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.57152	0.814	T	0.77178	-0.2683	9	0.87932	D	0	.	14.2258	0.65858	0.0737:0.0:0.9263:0.0	.	3816	Q96DT5	DYH11_HUMAN	L	3816	ENSP00000330671:R3816L	ENSP00000330671:R3816L	R	+	2	0	DNAH11	21870730	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	5.162000	0.64942	2.474000	0.83562	0.655000	0.94253	CGA	DNAH11	-	NULL		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21904205	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21904205	G	T	21904205	3	4	131	1	0	0	0	0	1	0	0	0	4609	1058	37	3	11726	3	DNAH11	7	21904205	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	226895	21904205	137234458	855	20995										
CDCA7L	55536	genome.wustl.edu	37	chr7	21945150	21945150	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatcatagattttatctcGaacagttatggcaacatttt	5	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21945150G>A	ENST00000406877.3	-	7	1300	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.R295*|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.R307*	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	341					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTTTATCTCGAACAGTTATG	0.393																																																	0													93	91	92					7																	21945150		2203	4300	6503	SO:0001587	stop_gained	55536				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1021C>T	7.37:g.21945150G>A	ENSP00000383986:p.Arg341*		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Nonsense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.R341*	ENST00000406877.3	37	c.1021	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.645126	0.98899	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	.	.	.	5.85	3.87	0.44632	.	0.057228	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3434	13.2867	0.60247	0.0:0.0:0.6742:0.3258	.	.	.	.	X	307;341;295	.	ENSP00000348523:R307X	R	-	1	2	CDCA7L	21911675	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	2.725000	0.47294	2.767000	0.95098	0.563000	0.77884	CGA	CDCA7L	-	NULL		0.393	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4	G	NM_018719		21945150	-1	no_errors	ENST00000406877	ensembl	human	known	70_37	nonsense	SNP	0.970	A	A	21945150	G	A	21945150	4	1	131	1	0	0	0	0	0	1	0	0	3096	1066	37	1	359	1	CDCA7L	7	21945150	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	40945	21945150	137193513	856	20996										
MGC87042	256227	genome.wustl.edu	37	chr7	22532284	22532284	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagtcccacaattcccagaGacacataaatctccattctc	3	16	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:22532284G>A	ENST00000406890.2	-	4	699	c.605C>T	c.(604-606)tCt>tTt	p.S202F	STEAP1B_ENST00000404369.4_Missense_Mutation_p.S221F	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	202						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						AATTCCCAGAGACACATAAAT	0.398																																																	0													253	211	224					7																	22532284		692	1591	2283	SO:0001583	missense	256227				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.605C>T	7.37:g.22532284G>A	ENSP00000385239:p.Ser202Phe		B5MCI2	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.S202F	ENST00000406890.2	37	c.605	CCDS55094.1	7	.	.	.	.	.	.	.	.	.	.	g	15.50	2.851267	0.51270	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363	D;D;D	0.90844	-2.74;-2.74;-2.74	1.06	1.06	0.20224	Flavoprotein transmembrane component (1);	0.170202	0.27240	U	0.020267	D	0.92057	0.7483	M	0.63843	1.955	0.26676	N	0.971622	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.985	T	0.83003	-0.0176	10	0.66056	D	0.02	-12.4613	5.1627	0.15070	0.0:0.3775:0.6225:0.0	.	221;202	B5MCI2;Q6NZ63	.;STEAL_HUMAN	F	202;221;221	ENSP00000385239:S202F;ENSP00000384370:S221F;ENSP00000416608:S221F	ENSP00000384370:S221F	S	-	2	0	STEAP1B	22498809	1.000000	0.71417	0.997000	0.53966	0.487000	0.33371	4.108000	0.57817	0.927000	0.37143	0.121000	0.15741	TCT	STEAP1B	-	pfam_Fe3_Rdtase_TM_dom		0.398	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STEAP1B	HGNC	protein_coding	OTTHUMT00000326617.2	G			22532284	-1	no_errors	ENST00000406890	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22532284	G	A	22532284	3	1	131	1	0	0	0	0	1	0	0	0	9577	942	33	1	411	1	MGC87042	7	22532284	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	587134	22532284	136606379	857	20997										
IGF2BP3	10643	genome.wustl.edu	37	chr7	23353262	23353262	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttaatttttccataaattCttccctgagcctgcagatga	5	10	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:23353262C>A	ENST00000258729.3	-	13	1762	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	469	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCATAAATTCTTCCCTGAGC	0.388																																																	0													73	71	71					7																	23353262		2203	4300	6503	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1406G>T	7.37:g.23353262C>A	ENSP00000258729:p.Arg469Ile		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R469I	ENST00000258729.3	37	c.1406	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114033	0.77210	.	.	ENSG00000136231	ENST00000258729	T	0.30182	1.54	5.55	5.55	0.83447	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.39898	1.24	0.80722	D	1	D	0.54964	0.969	P	0.62740	0.906	T	0.05273	-1.0895	10	0.21014	T	0.42	0.0017	19.8764	0.96873	0.0:1.0:0.0:0.0	.	469	O00425	IF2B3_HUMAN	I	469	ENSP00000258729:R469I	ENSP00000258729:R469I	R	-	2	0	IGF2BP3	23319787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.768000	0.95171	0.655000	0.94253	AGA	IGF2BP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.388	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	C	NM_006547		23353262	-1	no_errors	ENST00000258729	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23353262	C	A	23353262	3	1	131	1	0	0	0	0	1	0	0	0	7595	913	32	3	345	3	IGF2BP3	7	23353262	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	820978	23353262	135785401	858	20998										
OSBPL3	26031	genome.wustl.edu	37	chr7	24854690	24854690	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagttacctttataaaattCactttgcagtagcaggaatc	8	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:24854690C>A	ENST00000313367.2	-	19	2611	c.2160G>T	c.(2158-2160)gtG>gtT	p.V720V	OSBPL3_ENST00000352860.1_Silent_p.V689V|OSBPL3_ENST00000431825.2_Silent_p.V653V|OSBPL3_ENST00000409069.1_Silent_p.V653V|OSBPL3_ENST00000353930.1_Silent_p.V684V|OSBPL3_ENST00000396431.1_Silent_p.V689V|OSBPL3_ENST00000396429.1_Silent_p.V684V|OSBPL3_ENST00000487020.1_5'UTR	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	720					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTATAAAATTCACTTTGCAGT	0.488																																																	0													176	178	177					7																	24854690		2203	4300	6503	SO:0001819	synonymous_variant	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2160G>T	7.37:g.24854690C>A			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V720	ENST00000313367.2	37	c.2160	CCDS5390.1	7																																																																																			OSBPL3	-	pfam_Oxysterol-bd		0.488	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	C			24854690	-1	no_errors	ENST00000313367	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24854690	C	A	24854690	2	1	131	1	0	0	0	0	0	0	0	1	11303	813	29	3		3	OSBPL3	7	24854690	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1501428	24854690	134283973	859	20999										
CBX3	11335	genome.wustl.edu	37	chr7	26248030	26248030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtgctgacaatacttgggAacctgaagaaaatttagatt	9	6	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:26248030A>C	ENST00000337620.4	+	4	613	c.185A>C	c.(184-186)gAa>gCa	p.E62A	CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Missense_Mutation_p.E62A|CBX3_ENST00000409747.1_Intron	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	62	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AATACTTGGGAACCTGAAGAA	0.294																																																	0													48	52	50					7																	26248030		2203	4299	6502	SO:0001583	missense	11335			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"HP1 gamma homolog (Drosophila)"	604477	"chromobox homolog 3 (Drosophila HP1 gamma)"			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.185A>C	7.37:g.26248030A>C	ENSP00000336687:p.Glu62Ala		Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E62A	ENST00000337620.4	37	c.185	CCDS5398.1	7	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047069	0.75846	.	.	ENSG00000122565	ENST00000337620;ENST00000396386;ENST00000456948	D;D;D	0.84873	-1.91;-1.91;-1.91	5.35	5.35	0.76521	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	H	0.99834	4.825	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	D	0.98264	1.0500	10	0.87932	D	0	.	15.6276	0.76874	1.0:0.0:0.0:0.0	.	62	Q13185	CBX3_HUMAN	A	62	ENSP00000336687:E62A;ENSP00000379670:E62A;ENSP00000408672:E62A	ENSP00000336687:E62A	E	+	2	0	CBX3	26214555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.938000	0.92943	2.150000	0.67090	0.533000	0.62120	GAA	CBX3	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr		0.294	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX3	HGNC	protein_coding	OTTHUMT00000214117.1	A	NM_007276		26248030	1	no_errors	ENST00000337620	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26248030	A	C	26248030	3	2	131	1	0	0	0	0	1	0	0	0	2724	246	9	5	195	5	CBX3	7	26248030	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1393340	26248030	132890633	860	21000										
HOXA11	3207	genome.wustl.edu	37	chr7	27224337	27224337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccgtaggctgtctcgaaaaActggtcgaaagcctgtggca	13	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:27224337A>T	ENST00000006015.3	-	1	498	c.427T>A	c.(427-429)Ttt>Att	p.F143I	RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	143					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCGAAAAACTGGTCGAAA	0.662			T	NUP98	CML																																			Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													32	37	35					7																	27224337		2202	4299	6501	SO:0001583	missense	3207				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"Homeoboxes / ANTP class : HOXL subclass"	5101	protein-coding gene	gene with protein product		142958	"homeo box A11"	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.427T>A	7.37:g.27224337A>T	ENSP00000006015:p.Phe143Ile		A4D190	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.F143I	ENST00000006015.3	37	c.427	CCDS5411.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.363481|4.363481	0.82353|0.82353	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000006015|ENST00000517402	T|.	0.63096|.	-0.02|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);|.	0.109147|.	0.64402|.	D|.	0.000005|.	D|D	0.84424|0.84424	0.5469|0.5469	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	P|.	0.38300|.	0.626|.	B|.	0.34489|.	0.184|.	D|D	0.88214|0.88214	0.2892|0.2892	10|5	0.87932|.	D|.	0|.	.|.	15.35|15.35	0.74376|0.74376	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	143|.	P31270|.	HXA11_HUMAN|.	I|R	143|112	ENSP00000006015:F143I|.	ENSP00000006015:F143I|.	F|S	-|-	1|3	0|2	HOXA11|HOXA11	27190862|27190862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.779000|8.779000	0.91792|0.91792	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	TTT|AGT	HOXA11	-	pfam_DUF3528		0.662	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	HGNC	protein_coding	OTTHUMT00000358754.1	A			27224337	-1	no_errors	ENST00000006015	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27224337	A	T	27224337	3	4	131	1	0	0	0	0	1	0	0	0	7310	43	2	5	522	5	HOXA11	7	27224337	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	976307	27224337	131914326	861	21001										
TBX20	57057	genome.wustl.edu	37	chr7	35242127	35242127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgaaaatagtgatggtatCgcggcatgtggaatgaaggg	16	4	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:35242127C>T	ENST00000408931.3	-	8	1785	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	420					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTGATGGTATCGCGGCATGTG	0.527																																																	0													31	32	32					7																	35242127		1934	4134	6068	SO:0001583	missense	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1259G>A	7.37:g.35242127C>T	ENSP00000386170:p.Arg420Gln		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R420Q	ENST00000408931.3	37	c.1259	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.483127	0.96307	.	.	ENSG00000164532	ENST00000408931	D	0.87887	-2.31	5.66	5.66	0.87406	.	0.113505	0.56097	D	0.000034	D	0.88280	0.6394	L	0.27053	0.805	0.54753	D	0.999988	D	0.64830	0.994	D	0.64042	0.921	D	0.84166	0.0431	10	0.14252	T	0.57	.	19.7407	0.96230	0.0:1.0:0.0:0.0	.	420	Q9UMR3	TBX20_HUMAN	Q	420	ENSP00000386170:R420Q	ENSP00000386170:R420Q	R	-	2	0	TBX20	35208652	1.000000	0.71417	0.228000	0.23943	0.923000	0.55619	7.487000	0.81328	2.654000	0.90174	0.609000	0.83330	CGA	TBX20	-	NULL		0.527	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	C	NM_020417		35242127	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	missense	SNP	0.991	T	T	35242127	C	T	35242127	3	4	131	1	0	0	0	0	1	0	0	0	15686	884	31	1	87	1	TBX20	7	35242127	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	8017790	35242127	123896536	862	21002										
TXNDC3	51314	genome.wustl.edu	37	chr7	37936561	37936561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacagacccagaagaagcaaAattactttcccctgactcca	5	13	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:37936561A>C	ENST00000199447.4	+	17	2006	c.1634A>C	c.(1633-1635)aAa>aCa	p.K545T	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.K545T	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	545	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAAGAAGCAAAATTACTTTCC	0.448																																																	0													103	99	100					7																	37936561		2203	4300	6503	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1634A>C	7.37:g.37936561A>C	ENSP00000199447:p.Lys545Thr		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.K545T	ENST00000199447.4	37	c.1634	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727967	0.30593	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.46819	0.86;0.86	5.54	-4.69	0.03299	.	0.851296	0.10221	N	0.700866	T	0.58793	0.2147	M	0.92555	3.32	0.22330	N	0.999199	P	0.49253	0.921	P	0.48524	0.58	T	0.59231	-0.7493	10	0.59425	D	0.04	-9.3241	8.7661	0.34704	0.4223:0.122:0.4557:0.0	.	545	Q8N427	TXND3_HUMAN	T	545	ENSP00000199447:K545T;ENSP00000397063:K545T	ENSP00000199447:K545T	K	+	2	0	TXNDC3	37903086	0.248000	0.23930	0.006000	0.13384	0.162000	0.22319	0.798000	0.27014	-0.736000	0.04831	-0.256000	0.11100	AAA	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.448	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	A	NM_016616		37936561	1	no_errors	ENST00000199447	ensembl	human	known	70_37	missense	SNP	0.060	C	C	37936561	A	C	37936561	3	2	131	1	0	0	0	0	1	0	0	0	16829	14	1	5	1692	5	TXNDC3	7	37936561	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2694434	37936561	121202102	863	21003										
NPC1L1	29881	genome.wustl.edu	37	chr7	44560680	44560680	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagggcctcacagagcccatCgtgatgctcatgcagttctt	11	12	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:44560680C>T	ENST00000289547.4	-	13	3046	c.2991G>A	c.(2989-2991)acG>acA	p.T997T	NPC1L1_ENST00000381160.3_Silent_p.T997T|NPC1L1_ENST00000546276.1_Silent_p.T951T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	997					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGAGCCCATCGTGATGCTCA	0.567																																																	0													139	137	138					7																	44560680		2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2991G>A	7.37:g.44560680C>T			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.T997	ENST00000289547.4	37	c.2991	CCDS5491.1	7																																																																																			NPC1L1	-	NULL		0.567	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	C	NM_013389		44560680	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	silent	SNP	0.000	T	T	44560680	C	T	44560680	2	4	131	1	0	0	0	0	0	0	0	1	10595	871	31	1		1	NPC1L1	7	44560680	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6624119	44560680	114577983	864	21004										
TNS3	64759	genome.wustl.edu	37	chr7	47323307	47323307	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcactcacttcctctgattgTctgtcagggtgatgccctgg	11	12	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:47323307T>A	ENST00000398879.1	-	28	4451	c.4085A>T	c.(4084-4086)gAc>gTc	p.D1362V	TNS3_ENST00000355730.3_Missense_Mutation_p.D1122V|TNS3_ENST00000311160.9_Missense_Mutation_p.D1362V			Q68CZ2	TENS3_HUMAN	tensin 3	1362					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTCTGATTGTCTGTCAGGGT	0.592																																																	0													60	63	62					7																	47323307		2064	4243	6307	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4085A>T	7.37:g.47323307T>A	ENSP00000381854:p.Asp1362Val		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D1362V	ENST00000398879.1	37	c.4085	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631135	0.87660	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	T;T;T	0.68765	-0.35;-0.35;-0.35	5.66	5.66	0.87406	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.178191	0.46758	D	0.000269	D	0.85410	0.5690	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88812	0.3292	10	0.87932	D	0	-49.3846	13.844	0.63457	0.0:0.0:0.0:1.0	.	1362	Q68CZ2	TENS3_HUMAN	V	1362;1362;1122;818	ENSP00000312143:D1362V;ENSP00000381854:D1362V;ENSP00000347968:D1122V	ENSP00000312143:D1362V	D	-	2	0	TNS3	47289832	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.780000	0.85658	2.168000	0.68352	0.533000	0.62120	GAC	TNS3	-	pfam_PTB,smart_PTyr_interaction_dom		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	T	NM_022748		47323307	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47323307	T	A	47323307	3	1	131	1	0	0	0	0	1	0	0	0	16374	1667	58	5	268	5	TNS3	7	47323307	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2762627	47323307	111815356	865	21005										
TNS3	64759	genome.wustl.edu	37	chr7	47385795	47385795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcacatacctctttgacgTccgctggtgaggggaatggc	14	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:47385795T>C	ENST00000398879.1	-	18	2807	c.2441A>G	c.(2440-2442)gAc>gGc	p.D814G	TNS3_ENST00000355730.3_Missense_Mutation_p.D574G|TNS3_ENST00000311160.9_Missense_Mutation_p.D814G			Q68CZ2	TENS3_HUMAN	tensin 3	814					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTCTTTGACGTCCGCTGGTGA	0.592																																																	0													61	65	64					7																	47385795		2017	4180	6197	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2441A>G	7.37:g.47385795T>C	ENSP00000381854:p.Asp814Gly		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D814G	ENST00000398879.1	37	c.2441	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689203	0.29962	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93906	-2.88;-2.88;-3.31;-2.99	5.33	5.33	0.75918	.	1.458530	0.03665	N	0.243145	D	0.90232	0.6946	L	0.27053	0.805	0.54753	D	0.999986	B	0.23442	0.085	B	0.22386	0.039	T	0.70410	-0.4879	10	0.42905	T	0.14	-22.2253	11.6736	0.51417	0.0:0.0:0.0:1.0	.	814	Q68CZ2	TENS3_HUMAN	G	814;924;814;574;270;917	ENSP00000312143:D814G;ENSP00000381854:D814G;ENSP00000347968:D574G;ENSP00000414358:D917G	ENSP00000312143:D814G	D	-	2	0	TNS3	47352320	0.075000	0.21258	0.020000	0.16555	0.226000	0.24999	1.452000	0.35156	1.995000	0.58328	0.533000	0.62120	GAC	TNS3	-	NULL		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	T	NM_022748		47385795	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	0.081	C	C	47385795	T	C	47385795	3	2	131	1	0	0	0	0	1	0	0	0	16374	1667	58	5	1952	5	TNS3	7	47385795	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	62488	47385795	111752868	866	21006										
C7orf57	136288	genome.wustl.edu	37	chr7	48081074	48081074	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatactggataaaagaaacaGattcggaatatgtgaagctc	10	5	0	3	rs375449810		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48081074G>T	ENST00000348904.3	+	3	411	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	C7orf57_ENST00000420324.1_Missense_Mutation_p.D112Y|C7orf57_ENST00000539619.1_Missense_Mutation_p.D67Y|C7orf57_ENST00000430738.1_Missense_Mutation_p.D112Y|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	67										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAAAGAAACAGATTCGGAATA	0.602													G|||	1	0.000199681	0	0	5008	,	,		16856	0		0.001	False		,,,				2504	0																0								G	TYR/ASP	0,3818		0,0,1909	37	40	39		199	5.7	1	7		39	1,8249		0,1,4124	no	missense	C7orf57	NM_001100159.1	160	0,1,6033	TT,TG,GG		0.0121,0.0,0.0083	probably-damaging	67/296	48081074	1,12067	1909	4125	6034	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.199G>T	7.37:g.48081074G>T	ENSP00000335500:p.Asp67Tyr		C9JBJ8	Missense_Mutation	SNP	NULL	p.D67Y	ENST00000348904.3	37	c.199	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600517	0.66332	0.0	1.21E-4	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.84326	2.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.75983	-0.3125	10	0.87932	D	0	-31.0434	17.2972	0.87173	0.0:0.0:1.0:0.0	.	67	Q8NEG2	CG057_HUMAN	Y	112;112;67;67	ENSP00000394648:D112Y;ENSP00000410944:D112Y;ENSP00000335500:D67Y;ENSP00000442474:D67Y	ENSP00000335500:D67Y	D	+	1	0	C7orf57	48047599	1.000000	0.71417	0.964000	0.40570	0.452000	0.32318	6.127000	0.71642	2.670000	0.90874	0.563000	0.77884	GAT	C7orf57	-	NULL		0.602	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	G	NM_001100159		48081074	1	no_errors	ENST00000348904	ensembl	human	known	70_37	missense	SNP	0.993	T	T	48081074	G	T	48081074	3	4	131	1	0	0	0	0	1	0	0	0	2409	942	33	3	205	3	C7orf57	7	48081074	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	695279	48081074	111057589	867	21007										
ABCA13	154664	genome.wustl.edu	37	chr7	48285128	48285128	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagtcctcatttgcctggaGacatcagctaatgattttaa	8	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48285128G>A	ENST00000435803.1	+	12	1434	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	470					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGCCTGGAGACATCAGCTA	0.343																																																	0													144	142	142					7																	48285128		1828	4084	5912	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1410G>A	7.37:g.48285128G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E470	ENST00000435803.1	37	c.1410	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48285128	1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.677	A	A	48285128	G	A	48285128	2	1	131	1	0	0	0	0	0	0	0	1	31	933	33	1		1	ABCA13	7	48285128	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	204054	48285128	110853535	868	21008										
ABCA13	154664	genome.wustl.edu	37	chr7	48312174	48312174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttattcttcattttaccgaTatatttatgaattattgaat	3	4	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48312174T>C	ENST00000435803.1	+	17	2935	c.2911T>C	c.(2911-2913)Tat>Cat	p.Y971H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	971					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTTACCGATATATTTATGA	0.289																																																	0													50	49	49					7																	48312174		1805	4069	5874	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2911T>C	7.37:g.48312174T>C	ENSP00000411096:p.Tyr971His		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y971H	ENST00000435803.1	37	c.2911	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	4.454	0.084149	0.08583	.	.	ENSG00000179869	ENST00000435803	D	0.86030	-2.06	5.67	-11.3	0.00108	.	0.898792	0.09293	N	0.822036	T	0.63426	0.2510	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48714	-0.9011	10	0.44086	T	0.13	.	3.8122	0.08801	0.3063:0.4698:0.0806:0.1432	.	971	Q86UQ4	ABCAD_HUMAN	H	971	ENSP00000411096:Y971H	ENSP00000411096:Y971H	Y	+	1	0	ABCA13	48282720	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.543000	0.06084	-1.930000	0.01056	0.533000	0.62120	TAT	ABCA13	-	NULL		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	T	NM_152701		48312174	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	C	C	48312174	T	C	48312174	3	2	131	1	0	0	0	0	1	0	0	0	31	1406	49	5	2806	5	ABCA13	7	48312174	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	27046	48312174	110826489	869	21009										
ABCA13	154664	genome.wustl.edu	37	chr7	48315852	48315852	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaatcaagaacagctgactAatttctcagttgttcagctg	7	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48315852A>C	ENST00000435803.1	+	17	6613	c.6589A>C	c.(6589-6591)Aat>Cat	p.N2197H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2197					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAGCTGACTAATTTCTCAGT	0.353																																																	0													29	26	27					7																	48315852		1797	4068	5865	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6589A>C	7.37:g.48315852A>C	ENSP00000411096:p.Asn2197His		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N2197H	ENST00000435803.1	37	c.6589	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532756	0.27387	.	.	ENSG00000179869	ENST00000435803	T	0.21031	2.03	5.17	-0.307	0.12777	.	0.404364	0.20983	N	0.082174	T	0.26666	0.0652	L	0.60455	1.87	0.09310	N	1	D	0.61697	0.99	P	0.54664	0.758	T	0.07986	-1.0744	9	.	.	.	.	5.496	0.16804	0.5137:0.1453:0.3411:0.0	.	2197	Q86UQ4	ABCAD_HUMAN	H	2197	ENSP00000411096:N2197H	.	N	+	1	0	ABCA13	48286398	0.001000	0.12720	0.002000	0.10522	0.182000	0.23217	0.210000	0.17455	0.006000	0.14734	0.397000	0.26171	AAT	ABCA13	-	NULL		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	A	NM_152701		48315852	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	C	C	48315852	A	C	48315852	3	2	131	1	0	0	0	0	1	0	0	0	31	362	13	5	6484	5	ABCA13	7	48315852	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3678	48315852	110822811	870	21010										
ABCA13	154664	genome.wustl.edu	37	chr7	48318505	48318505	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgttcaaaatcttgtgaaaGaaatagctactttaaaaaaa	6	4	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48318505G>T	ENST00000435803.1	+	18	7738	c.7714G>T	c.(7714-7716)Gaa>Taa	p.E2572*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2572					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGTGAAAGAAATAGCTAC	0.313																																																	0													64	68	67					7																	48318505		1809	4050	5859	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7714G>T	7.37:g.48318505G>T	ENSP00000411096:p.Glu2572*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E2572*	ENST00000435803.1	37	c.7714	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.177868	0.99725	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.93	-0.304	0.12788	.	0.756267	0.11593	N	0.548509	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.0967	0.03669	0.1745:0.2905:0.3949:0.1401	.	.	.	.	X	2572	.	ENSP00000411096:E2572X	E	+	1	0	ABCA13	48289051	0.008000	0.16893	0.001000	0.08648	0.100000	0.18952	0.419000	0.21247	-0.096000	0.12329	-0.868000	0.02995	GAA	ABCA13	-	NULL		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48318505	1	no_errors	ENST00000435803	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	48318505	G	T	48318505	4	4	131	1	0	0	0	0	0	1	0	0	31	943	33	3	7613	3	ABCA13	7	48318505	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2653	48318505	110820158	871	21011										
IKZF1	10320	genome.wustl.edu	37	chr7	50467665	50467665	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacagcagcgccagctacgaGaaggagaacgaaatgatgaa	13	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:50467665G>A	ENST00000331340.3	+	8	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Silent_p.E213E|IKZF1_ENST00000359197.5_Silent_p.E258E|IKZF1_ENST00000438033.1_Silent_p.E213E|IKZF1_ENST00000343574.5_Silent_p.E213E|IKZF1_ENST00000439701.1_Silent_p.E258E|IKZF1_ENST00000349824.4_Silent_p.E157E|IKZF1_ENST00000346667.4_Silent_p.E70E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	300					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											34	35	34					7																	50467665		2133	4248	6381	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.900G>A	7.37:g.50467665G>A			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E300	ENST00000331340.3	37	c.900		7																																																																																			IKZF1	-	NULL		0.637	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	G	NM_006060		50467665	1	no_errors	ENST00000331340	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50467665	G	A	50467665	2	1	131	1	0	0	0	0	0	0	0	1	7634	933	33	1		1	IKZF1	7	50467665	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2149160	50467665	108670998	872	21012										
SEPT14	346288	genome.wustl.edu	37	chr7	55863714	55863714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgatttctccttccagttgTtttttctcttcctcgagctt	5	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:55863714T>G	ENST00000388975.3	-	10	1307	c.1191A>C	c.(1189-1191)aaA>aaC	p.K397N		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	397					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTTGTTTTTTCTCTT	0.423																																																	0													30	40	36					7																	55863714		1312	2273	3585	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1191A>C	7.37:g.55863714T>G	ENSP00000373627:p.Lys397Asn		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.K397N	ENST00000388975.3	37	c.1191	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699347	0.30142	.	.	ENSG00000154997	ENST00000388975	D	0.84516	-1.86	1.32	1.32	0.21799	.	0.214708	0.31061	N	0.008338	T	0.81955	0.4932	L	0.59436	1.845	0.09310	N	1	P	0.38788	0.647	B	0.43536	0.423	T	0.74077	-0.3781	10	0.66056	D	0.02	.	6.7786	0.23634	0.0:0.0:0.0:1.0	.	397	Q6ZU15	SEP14_HUMAN	N	397	ENSP00000373627:K397N	ENSP00000373627:K397N	K	-	3	2	SEPT14	55831208	0.032000	0.19561	0.173000	0.22940	0.042000	0.13812	0.394000	0.20834	0.868000	0.35678	0.248000	0.18094	AAA	SEPT14	-	pirsf_Septin		0.423	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	T	NM_207366		55863714	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	missense	SNP	0.067	G	G	55863714	T	G	55863714	3	3	131	1	0	0	0	0	1	0	0	0	14093	1722	60	5	111	5	SEPT14	7	55863714	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5396049	55863714	103274949	873	21013										
SEPT14	346288	genome.wustl.edu	37	chr7	55902133	55902133	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttacactaactgaggagttCgcttgagcagcagtttcttc	9	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:55902133C>T	ENST00000388975.3	-	6	821	c.705G>A	c.(703-705)gcG>gcA	p.A235A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	235	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGAGGAGTTCGCTTGAGCAG	0.343																																																	0													101	87	92					7																	55902133		2203	4300	6503	SO:0001819	synonymous_variant	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.705G>A	7.37:g.55902133C>T			A6NCC2|B4DXD6	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.A235	ENST00000388975.3	37	c.705	CCDS5519.2	7																																																																																			SEPT14	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55902133	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	silent	SNP	0.312	T	T	55902133	C	T	55902133	2	4	131	1	0	0	0	0	0	0	0	1	14093	871	31	1		1	SEPT14	7	55902133	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	38419	55902133	103236530	874	21014										
ZNF479	90827	genome.wustl.edu	37	chr7	57188757	57188757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcattttttaaattgtaatTtctcatgtccacattttcca	3	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:57188757T>G	ENST00000331162.4	-	5	635	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAATTGTAATTTCTCATGTCC	0.388																																																	0													71	65	67					7																	57188757		1829	4082	5911	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.365A>C	7.37:g.57188757T>G	ENSP00000333776:p.Lys122Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K122T	ENST00000331162.4	37	c.365	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	5.471	0.271947	0.10349	.	.	ENSG00000185177	ENST00000331162	T	0.06768	3.26	1.6	0.285	0.15705	.	.	.	.	.	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.40251	-0.9573	9	0.59425	D	0.04	.	3.3246	0.07062	0.0:0.267:0.0:0.733	.	122	Q96JC4	ZN479_HUMAN	T	122	ENSP00000333776:K122T	ENSP00000333776:K122T	K	-	2	0	ZNF479	57192699	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	-0.606000	0.05654	-0.084000	0.12595	0.329000	0.21502	AAA	ZNF479	-	NULL		0.388	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	T	XM_291202		57188757	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.001	G	G	57188757	T	G	57188757	3	3	131	1	0	0	0	0	1	0	0	0	17963	1841	64	5	1213	5	ZNF479	7	57188757	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1286624	57188757	101949906	875	21015										
ZNF716	441234	genome.wustl.edu	37	chr7	57528744	57528744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgtaaaaacgatggcaaaTcattttgcatgctttcacgc	7	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:57528744T>C	ENST00000420713.1	+	4	689	c.577T>C	c.(577-579)Tca>Cca	p.S193P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CGATGGCAAATCATTTTGCAT	0.338																																																	0													77	66	69					7																	57528744		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.577T>C	7.37:g.57528744T>C	ENSP00000394248:p.Ser193Pro			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S193P	ENST00000420713.1	37	c.577	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621545	0.28889	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.17054	2.3	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22666	0.0547	L	0.39326	1.205	0.09310	N	1	D	0.76494	0.999	P	0.59643	0.861	T	0.11275	-1.0594	9	0.66056	D	0.02	.	4.8229	0.13400	0.0:2.0E-4:0.0:0.9998	.	181	A6NP11	ZN716_HUMAN	P	193;181	ENSP00000394248:S193P	ENSP00000387687:S181P	S	+	1	0	ZNF716	57532686	0.000000	0.05858	0.235000	0.24058	0.234000	0.25298	-1.439000	0.02414	0.257000	0.21650	0.254000	0.18369	TCA	ZNF716	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	T	NM_001159279		57528744	1	no_errors	ENST00000420713	ensembl	human	known	70_37	missense	SNP	0.363	C	C	57528744	T	C	57528744	3	2	131	1	0	0	0	0	1	0	0	0	18149	1435	50	5	591	5	ZNF716	7	57528744	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	339987	57528744	101609919	876	21016										
KCTD7	154881	genome.wustl.edu	37	chr7	66098334	66098334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtccacactgcggtgctacGaagacaccatgttggcagcc	11	13	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:66098334G>A	ENST00000275532.3	+	2	401	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	KCTD7_ENST00000443322.1_Missense_Mutation_p.E73K	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	73	BTB.				cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGGTGCTACGAAGACACCAT	0.567																																																	0													129	95	107					7																	66098334		2203	4300	6503	SO:0001583	missense	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.217G>A	7.37:g.66098334G>A	ENSP00000275532:p.Glu73Lys		A4D2M4|Q8IVR0	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E73K	ENST00000275532.3	37	c.217	CCDS5534.1	7	.	.	.	.	.	.	.	.	.	.	g	22.1	4.242304	0.79912	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.41065	1.01;1.01	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	T	0.42698	0.1214	L	0.31578	0.945	0.80722	D	1	P	0.39116	0.66	P	0.45681	0.49	T	0.45469	-0.9259	9	0.66056	D	0.02	.	17.2579	0.87062	0.0:0.0:1.0:0.0	.	73	Q96MP8	KCTD7_HUMAN	K	73	ENSP00000275532:E73K;ENSP00000411624:E73K	ENSP00000275532:E73K	E	+	1	0	KCTD7	65735769	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.227000	0.95236	2.375000	0.81037	0.462000	0.41574	GAA	KCTD7	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.567	KCTD7-001	KNOWN	basic|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251733.2	G	NM_153033		66098334	1	no_errors	ENST00000275532	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66098334	G	A	66098334	3	1	131	1	0	0	0	0	1	0	0	0	8134	1059	37	1	223	1	KCTD7	7	66098334	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8569590	66098334	93040329	877	21017										
TYW1	55253	genome.wustl.edu	37	chr7	66532313	66532313	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggttgttacaaacacacattCtatggaattgagagccatcg	9	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:66532313C>A	ENST00000359626.5	+	10	1361	c.1197C>A	c.(1195-1197)ttC>ttA	p.F399L		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	399					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AACACACATTCTATGGAATTG	0.418																																																	0													184	160	168					7																	66532313		2203	4300	6503	SO:0001583	missense	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1197C>A	7.37:g.66532313C>A	ENSP00000352645:p.Phe399Leu		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	p.F399L	ENST00000359626.5	37	c.1197	CCDS5538.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062041	0.76187	.	.	ENSG00000198874	ENST00000359626	T	0.36878	1.23	4.36	1.3	0.21679	.	0.000000	0.85682	U	0.000000	T	0.33294	0.0858	M	0.62723	1.935	0.49687	D	0.999816	B	0.22480	0.07	B	0.29440	0.102	T	0.11131	-1.0600	10	0.49607	T	0.09	.	7.1163	0.25418	0.0:0.6536:0.0:0.3464	.	399	Q9NV66	TYW1_HUMAN	L	399	ENSP00000352645:F399L	ENSP00000352645:F399L	F	+	3	2	TYW1	66169748	0.997000	0.39634	0.999000	0.59377	0.937000	0.57800	0.365000	0.20348	0.223000	0.20920	0.508000	0.49915	TTC	TYW1	-	NULL		0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251932.2	C	NM_018264		66532313	1	no_errors	ENST00000359626	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66532313	C	A	66532313	3	1	131	1	0	0	0	0	1	0	0	0	16849	912	32	3	1235	3	TYW1	7	66532313	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	433979	66532313	92606350	878	21018										
POM121	9883	genome.wustl.edu	37	chr7	72416226	72416226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctcagcacccgcccaaggcTttgttggtgttgcacctttc	9	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:72416226T>G	ENST00000434423.2	+	12	3631	c.3631T>G	c.(3631-3633)Ttt>Gtt	p.F1211V	POM121_ENST00000395270.1_Missense_Mutation_p.F946V|POM121_ENST00000358357.3_Missense_Mutation_p.F946V|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000257622.4_Missense_Mutation_p.F946V|POM121_ENST00000446813.1_Missense_Mutation_p.F946V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1211	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCCCAAGGCTTTGTTGGTGT	0.637																																																	0													22	21	21					7																	72416226		2203	4297	6500	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3631T>G	7.37:g.72416226T>G	ENSP00000405562:p.Phe1211Val		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.F1211V	ENST00000434423.2	37	c.3631		7	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135767	0.21123	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.13307	2.6;2.74;2.6;2.74;2.91	3.16	3.16	0.36331	.	0.000000	0.39544	N	0.001327	T	0.32436	0.0829	M	0.74258	2.255	0.32322	N	0.562215	D	0.76494	0.999	D	0.80764	0.994	T	0.38134	-0.9675	10	0.42905	T	0.14	.	9.5816	0.39490	0.0:0.0:0.0:1.0	.	946	A8MXF9	.	V	946;946;946;946;1211	ENSP00000393020:F946V;ENSP00000257622:F946V;ENSP00000378687:F946V;ENSP00000351124:F946V;ENSP00000405562:F1211V	ENSP00000257622:F946V	F	+	1	0	POM121	72054162	1.000000	0.71417	0.954000	0.39281	0.275000	0.26752	4.229000	0.58625	1.439000	0.47511	0.321000	0.21382	TTT	POM121	-	NULL		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	T			72416226	1	no_errors	ENST00000434423	ensembl	human	known	70_37	missense	SNP	0.992	G	G	72416226	T	G	72416226	3	3	131	1	0	0	0	0	1	0	0	0	12263	1609	56	5	2878	5	POM121	7	72416226	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5883913	72416226	86722437	879	21019										
CLIP2	7461	genome.wustl.edu	37	chr7	73753046	73753046	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgggcggcgtgcgctacttCgagtgcccggccctccaggg	17	14	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:73753046C>T	ENST00000395060.1	+	2	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	CLIP2_ENST00000361545.5_Silent_p.F130F|CLIP2_ENST00000223398.6_Silent_p.F130F			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	130	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGCGCTACTTCGAGTGCCCGG	0.701																																																	0													36	34	34					7																	73753046		2193	4295	6488	SO:0001819	synonymous_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.390C>T	7.37:g.73753046C>T			O14527|O43611	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.F130	ENST00000395060.1	37	c.390	CCDS5569.1	7																																																																																			CLIP2	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain		0.701	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	C	NM_003388		73753046	1	no_errors	ENST00000223398	ensembl	human	known	70_37	silent	SNP	0.999	T	T	73753046	C	T	73753046	2	4	131	1	0	0	0	0	0	0	0	1	3538	883	31	1		1	CLIP2	7	73753046	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1336820	73753046	85385617	880	21020										
CACNA2D1	781	genome.wustl.edu	37	chr7	81642812	81642812	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattgcaccaatggaaggaaTttcataataataacctgaaa	6	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:81642812T>G	ENST00000356253.5	-	14	1492	c.1237A>C	c.(1237-1239)Att>Ctt	p.I413L	MIR1255B1_ENST00000454066.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.I413L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	413	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGGAAGGAATTTCATAATAA	0.189																																																	0													8	9	8					7																	81642812		1853	3749	5602	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1237A>C	7.37:g.81642812T>G	ENSP00000348589:p.Ile413Leu		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.I413L	ENST00000356253.5	37	c.1237		7	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343480	0.82022	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.81739	-1.53;-1.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	L	0.39397	1.21	0.80722	D	1	D	0.57571	0.98	P	0.55999	0.789	T	0.81519	-0.0896	10	0.40728	T	0.16	-23.6935	13.5211	0.61568	0.0:0.0:0.0:1.0	.	413	P54289-2	.	L	413	ENSP00000349320:I413L;ENSP00000348589:I413L	ENSP00000284088:I413L	I	-	1	0	CACNA2D1	81480748	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.375000	0.79646	2.183000	0.69458	0.383000	0.25322	ATT	CACNA2D1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.189	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		T			81642812	-1	no_errors	ENST00000356253	ensembl	human	known	70_37	missense	SNP	1.000	G	G	81642812	T	G	81642812	3	3	131	1	0	0	0	0	1	0	0	0	2553	1493	52	5	2142	5	CACNA2D1	7	81642812	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	7889766	81642812	77495851	881	21021										
PCLO	27445	genome.wustl.edu	37	chr7	82763807	82763807	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctttttttctgtttctgttCtttttactgttggagcttgt	8	6	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:82763807C>A	ENST00000333891.9	-	3	3396	c.3059G>T	c.(3058-3060)aGa>aTa	p.R1020I	PCLO_ENST00000423517.2_Missense_Mutation_p.R1020I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTCTGTTCTTTTTACTGT	0.433																																																	0													86	84	85					7																	82763807		1837	4083	5920	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3059G>T	7.37:g.82763807C>A	ENSP00000334319:p.Arg1020Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R1020I	ENST00000333891.9	37	c.3059	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	9.067	0.996021	0.19043	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76060	-0.99;-0.99	6.0	2.13	0.27403	.	.	.	.	.	T	0.61739	0.2371	L	0.36672	1.1	0.54753	D	0.999985	B;B	0.12630	0.003;0.006	B;B	0.15052	0.012;0.012	T	0.54463	-0.8290	9	0.87932	D	0	.	6.917	0.24365	0.1248:0.6816:0.0:0.1936	.	1020;1020	Q9Y6V0-5;Q9Y6V0-6	.;.	I	966;1020;1020	ENSP00000334319:R1020I;ENSP00000388393:R1020I	ENSP00000334319:R1020I	R	-	2	0	PCLO	82601743	0.446000	0.25665	0.974000	0.42286	0.830000	0.47004	0.883000	0.28200	0.110000	0.17919	-0.140000	0.14226	AGA	PCLO	-	superfamily_Znf_FYVE_PHD		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82763807	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.854	A	A	82763807	C	A	82763807	3	1	131	1	0	0	0	0	1	0	0	0	11607	913	32	3	12478	3	PCLO	7	82763807	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1120995	82763807	76374856	882	21022										
CROT	54677	genome.wustl.edu	37	chr7	87011272	87011272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgaacatcagttattatgTggatgagaaaatttttcaga	10	3	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:87011272T>C	ENST00000331536.3	+	11	1210	c.1025T>C	c.(1024-1026)gTg>gCg	p.V342A	CROT_ENST00000419147.2_Missense_Mutation_p.V370A|CROT_ENST00000442291.1_Missense_Mutation_p.V342A	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	342					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGTTATTATGTGGATGAGAAA	0.274																																																	0													106	104	104					7																	87011272		2203	4297	6500	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1025T>C	7.37:g.87011272T>C	ENSP00000331981:p.Val342Ala		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V342A	ENST00000331536.3	37	c.1025	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369742	0.42003	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90620	-2.7;-2.7;-2.7	5.35	5.35	0.76521	.	0.255793	0.37761	N	0.001950	D	0.87974	0.6313	L	0.54863	1.705	0.48511	D	0.99966	B;B	0.20368	0.044;0.024	B;B	0.26416	0.026;0.069	D	0.84840	0.0807	10	0.51188	T	0.08	-13.2636	10.3923	0.44179	0.0:0.0834:0.0:0.9166	.	370;342	E7EQF2;Q9UKG9	.;OCTC_HUMAN	A	370;342;342	ENSP00000413575:V370A;ENSP00000331981:V342A;ENSP00000411983:V342A	ENSP00000331981:V342A	V	+	2	0	CROT	86849208	1.000000	0.71417	0.655000	0.29622	0.978000	0.69477	5.723000	0.68492	2.159000	0.67721	0.383000	0.25322	GTG	CROT	-	pfam_Carn_acyl_trans		0.274	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	T	NM_021151		87011272	1	no_errors	ENST00000331536	ensembl	human	known	70_37	missense	SNP	0.995	C	C	87011272	T	C	87011272	3	2	131	1	0	0	0	0	1	0	0	0	3899	1696	59	5	1147	5	CROT	7	87011272	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4247465	87011272	72127391	883	21023										
DBF4	10926	genome.wustl.edu	37	chr7	87537139	87537139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggaacccaatgaatgtgaCttcaagaatatggatagttt	10	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:87537139C>T	ENST00000265728.1	+	12	2190	c.1686C>T	c.(1684-1686)gaC>gaT	p.D562D		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	562					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATGAATGTGACTTCAAGAATA	0.363																																																	0													77	80	79					7																	87537139		2202	4293	6495	SO:0001819	synonymous_variant	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1686C>T	7.37:g.87537139C>T			A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.D562	ENST00000265728.1	37	c.1686	CCDS5611.1	7																																																																																			DBF4	-	NULL		0.363	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	C	NM_006716		87537139	1	no_errors	ENST00000265728	ensembl	human	known	70_37	silent	SNP	0.001	T	T	87537139	C	T	87537139	2	4	131	1	0	0	0	0	0	0	0	1	4253	564	20	4		4	DBF4	7	87537139	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	525867	87537139	71601524	884	21024										
ADAM22	53616	genome.wustl.edu	37	chr7	87810903	87810903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtgaaaatgggcgacctcGaagtaactcttggcaaggta	12	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:87810903G>A	ENST00000265727.7	+	28	2571	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	ADAM22_ENST00000398209.3_Missense_Mutation_p.R795Q|ADAM22_ENST00000398204.4_Missense_Mutation_p.R795Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R795Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R831Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	831					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGACCTCGAAGTAACTCT	0.403																																																	0													79	71	73					7																	87810903		1854	4099	5953	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2492G>A	7.37:g.87810903G>A	ENSP00000265727:p.Arg831Gln		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R831Q	ENST00000265727.7	37	c.2492	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804167	0.90623	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.52295	4.35;4.23;4.21;4.02;4.04;3.95;0.67	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	L	0.47716	1.5	0.44136	D	0.996926	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.996;0.998	T	0.63198	-0.6691	10	0.52906	T	0.07	.	20.004	0.97428	0.0:0.0:1.0:0.0	.	883;795;831;795	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Q	795;831;831;795;795;798;189	ENSP00000381262:R795Q;ENSP00000381260:R831Q;ENSP00000265727:R831Q;ENSP00000315900:R795Q;ENSP00000381267:R795Q;ENSP00000381261:R798Q;ENSP00000396233:R189Q	ENSP00000265727:R831Q	R	+	2	0	ADAM22	87648839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.728000	0.93425	0.655000	0.94253	CGA	ADAM22	-	NULL		0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	G	NM_021723		87810903	1	no_errors	ENST00000265727	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87810903	G	A	87810903	3	1	131	1	0	0	0	0	1	0	0	0	244	1058	37	1	2602	1	ADAM22	7	87810903	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	273764	87810903	71327760	885	21025										
MGC26647	219557	genome.wustl.edu	37	chr7	88423783	88423783	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgactgtgtcacatcgtcGagatacataactggaacttt	9	8	1	2	rs377269794		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:88423783G>A	ENST00000297203.2	-	2	659	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	158										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCACATCGTCGAGATACATAA	0.363																																																	0								G	,	0,4406		0,0,2203	135	119	124		474,	-12.1	0	7		124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	C7orf62,ZNF804B	NM_152706.2,NM_181646.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	158/254,	88423783	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	219557			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.474C>T	7.37:g.88423783G>A				Silent	SNP	NULL	p.L158	ENST00000297203.2	37	c.474	CCDS34678.1	7																																																																																			C7orf62	-	NULL		0.363	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf62	HGNC	protein_coding	OTTHUMT00000332714.1	G	NM_152706		88423783	-1	no_errors	ENST00000297203	ensembl	human	known	70_37	silent	SNP	0.018	A	A	88423783	G	A	88423783	2	1	131	1	0	0	0	0	0	0	0	1	9573	1045	37	1		1	MGC26647	7	88423783	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	612880	88423783	70714880	886	21026										
ZNF804B	219578	genome.wustl.edu	37	chr7	88962847	88962847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccgataaacagcggtccaCcatgccaaatcgacaccaat	6	14	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:88962847C>T	ENST00000333190.4	+	4	1160	c.551C>T	c.(550-552)aCc>aTc	p.T184I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	184							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGCGGTCCACCATGCCAAAT	0.418										HNSCC(36;0.09)																																							0													115	111	112					7																	88962847		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.551C>T	7.37:g.88962847C>T	ENSP00000329638:p.Thr184Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.T184I	ENST00000333190.4	37	c.551	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	6.987	0.552273	0.13374	.	.	ENSG00000182348	ENST00000333190	T	0.05081	3.5	5.3	3.37	0.38596	.	1.117290	0.06646	N	0.761966	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.42068	-0.9473	10	0.05436	T	0.98	0.4451	4.4951	0.11833	0.0:0.6006:0.0:0.3994	.	184	A4D1E1	Z804B_HUMAN	I	184	ENSP00000329638:T184I	ENSP00000329638:T184I	T	+	2	0	ZNF804B	88800783	0.000000	0.05858	0.004000	0.12327	0.856000	0.48823	0.154000	0.16343	1.490000	0.48466	0.650000	0.86243	ACC	ZNF804B	-	NULL		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88962847	1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	0.007	T	T	88962847	C	T	88962847	3	4	131	1	0	0	0	0	1	0	0	0	18201	507	18	4	565	4	ZNF804B	7	88962847	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	539064	88962847	70175816	887	21027										
C7orf63	79846	genome.wustl.edu	37	chr7	89909023	89909023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcaaagttattttggctttGtttacctatgttaagaagcc	9	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89909023G>A	ENST00000389297.4	+	12	1439	c.1188G>A	c.(1186-1188)ttG>ttA	p.L396L	C7orf63_ENST00000316089.8_Silent_p.L396L|C7orf63_ENST00000497910.1_Silent_p.L378L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		396										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTGGCTTTGTTTACCTATG	0.338											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													67	67	67					7																	89909023		1818	4081	5899	SO:0001819	synonymous_variant	79846																														ENST00000389297.4:c.1188G>A	7.37:g.89909023G>A		1270	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	superfamily_ARM-type_fold	p.L396	ENST00000389297.4	37	c.1188	CCDS43613.2	7																																																																																			C7orf63	-	superfamily_ARM-type_fold		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89909023	1	no_errors	ENST00000389297	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89909023	G	A	89909023	2	1	131	1	0	0	0	0	0	0	0	1	2414	1368	48	4		4	C7orf63	7	89909023	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	946176	89909023	69229640	888	21028										
C7orf63	79846	genome.wustl.edu	37	chr7	89933282	89933282	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcatgctatccaatgattaGatacaaaaaaacctctattt	3	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89933282G>T	ENST00000389297.4	+	18	2301		c.e18-1		C7orf63_ENST00000316089.8_Intron|C7orf63_ENST00000497910.1_Splice_Site	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN												breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAATGATTAGATACAAAAAA	0.308																																																	0													92	81	84					7																	89933282		692	1591	2283	SO:0001630	splice_region_variant	79846																														ENST00000389297.4:c.2051-1G>T	7.37:g.89933282G>T			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Splice_Site	SNP	-	e18-1	ENST00000389297.4	37	c.2051-1	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028361	0.54790	.	.	ENSG00000105792	ENST00000389297;ENST00000497910	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf63	89771218	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.423000	0.80229	2.711000	0.92665	0.655000	0.94253	.	C7orf63	-	-		0.308	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G		Intron	89933282	1	no_errors	ENST00000389297	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	89933282	G	T	89933282	5	4	131	1	0	0	0	0	0	0	1	0	2414	956	33	3	2120	3	C7orf63	7	89933282	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	24259	89933282	69205381	889	21029										
C7orf63	79846	genome.wustl.edu	37	chr7	89934126	89934126	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtatcatacatagatatcttGattttaaagtaagtatcttt	5	4	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89934126G>T	ENST00000389297.4	+	19	2508	c.2257G>T	c.(2257-2259)Gat>Tat	p.D753Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.D707Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.D735Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		753										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAGATATCTTGATTTTAAAGT	0.254																																																	0													71	68	69					7																	89934126		1780	4043	5823	SO:0001583	missense	79846																														ENST00000389297.4:c.2257G>T	7.37:g.89934126G>T	ENSP00000373948:p.Asp753Tyr		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D753Y	ENST00000389297.4	37	c.2257	CCDS43613.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126259|4.126259	0.77549|0.77549	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839	T;T;T;T|.	0.26810|.	2.31;2.27;2.31;1.71|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78723|.	0.4328|.	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	T|.	0.77885|.	-0.2421|.	10|.	0.87932|.	D|.	0|.	-21.1143|-21.1143	19.635|19.635	0.95728|0.95728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	735;753|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	Y|L	753;707;735;290|47	ENSP00000373948:D753Y;ENSP00000321753:D707Y;ENSP00000419549:D735Y;ENSP00000391571:D290Y|.	ENSP00000321753:D707Y|.	D|X	+|+	1|2	0|2	C7orf63|C7orf63	89772062|89772062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.126000|7.126000	0.77201|0.77201	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAT|TGA	C7orf63	-	NULL		0.254	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89934126	1	no_errors	ENST00000389297	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89934126	G	T	89934126	3	4	131	1	0	0	0	0	1	0	0	0	2414	1290	45	3	2331	3	C7orf63	7	89934126	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	844	89934126	69204537	890	21030										
MTERF	7978	genome.wustl.edu	37	chr7	91504019	91504019	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaccaaagagaaagttatttCtcatatgccagaggtttcct	7	8	1	2	rs150415937		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:91504019C>A	ENST00000351870.3	-	3	182	c.89G>T	c.(88-90)aGa>aTa	p.R30I	MTERF_ENST00000419292.1_Missense_Mutation_p.R10I|MTERF_ENST00000406735.2_Missense_Mutation_p.R10I|MTERF_ENST00000481516.1_5'Flank	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		30					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AAAGTTATTTCTCATATGCCA	0.353																																																	0								C	ILE/ARG	0,4406		0,0,2203	52	51	51		89	3.9	1	7	dbSNP_134	51	1,8597	1.2+/-3.3	0,1,4298	no	missense	MTERF	NM_006980.3	97	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	30/400	91504019	1,13003	2203	4299	6502	SO:0001583	missense	7978																														ENST00000351870.3:c.89G>T	7.37:g.91504019C>A	ENSP00000248643:p.Arg30Ile		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.R30I	ENST00000351870.3	37	c.89	CCDS5621.1	7	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749717	0.69533	0.0	1.16E-4	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735;ENST00000456229;ENST00000442961;ENST00000425936	T;T;T	0.26810	1.71;1.93;1.71	3.88	3.88	0.44766	.	0.314687	0.27442	N	0.019344	T	0.34774	0.0909	L	0.34521	1.04	0.42961	D	0.994403	D	0.65815	0.995	D	0.75484	0.986	T	0.08889	-1.0700	10	0.87932	D	0	-15.5903	7.5752	0.27931	0.0:0.8878:0.0:0.1122	.	30	Q99551	MTERF_HUMAN	I	10;30;10;10;30;10	ENSP00000414116:R10I;ENSP00000248643:R30I;ENSP00000384986:R10I	ENSP00000248643:R30I	R	-	2	0	MTERF	91341955	0.489000	0.26004	0.997000	0.53966	0.883000	0.51084	0.783000	0.26802	2.468000	0.83385	0.591000	0.81541	AGA	MTERF	-	NULL		0.353	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	C			91504019	-1	no_errors	ENST00000351870	ensembl	human	known	70_37	missense	SNP	0.996	A	A	91504019	C	A	91504019	3	1	131	1	0	0	0	0	1	0	0	0	9941	913	32	3	1114	3	MTERF	7	91504019	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1569893	91504019	67634644	891	21031										
SAMD9	54809	genome.wustl.edu	37	chr7	92733737	92733737	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggtagaaagcacagaaagtCtcaatgaggggatctcttgg	13	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92733737C>A	ENST00000379958.2	-	3	1943	c.1674G>T	c.(1672-1674)gaG>gaT	p.E558D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	558						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACAGAAAGTCTCAATGAGGG	0.398																																																	0													95	96	95					7																	92733737		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1674G>T	7.37:g.92733737C>A	ENSP00000369292:p.Glu558Asp		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E558D	ENST00000379958.2	37	c.1674	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201413	0.38905	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.10192	2.9;2.9	4.35	1.53	0.23141	.	0.000000	0.64402	U	0.000018	T	0.16300	0.0392	L	0.61036	1.89	0.25926	N	0.983058	D	0.56035	0.974	P	0.52957	0.714	T	0.08994	-1.0695	10	0.27785	T	0.31	.	7.3136	0.26488	0.0:0.6335:0.0:0.3665	.	558	Q5K651	SAMD9_HUMAN	D	558	ENSP00000369292:E558D;ENSP00000414529:E558D	ENSP00000369292:E558D	E	-	3	2	SAMD9	92571673	0.627000	0.27129	0.999000	0.59377	0.776000	0.43924	-0.204000	0.09425	0.209000	0.20645	0.603000	0.83216	GAG	SAMD9	-	NULL		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92733737	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92733737	C	A	92733737	3	1	131	1	0	0	0	0	1	0	0	0	13856	912	32	3	3099	3	SAMD9	7	92733737	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1229718	92733737	66404926	892	21032										
SAMD9	54809	genome.wustl.edu	37	chr7	92735170	92735170	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttagatgtctgaatcgaatCttcaatggctgttttccgca	8	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92735170C>A	ENST00000379958.2	-	3	510	c.241G>T	c.(241-243)Gat>Tat	p.D81Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373																																																	0													162	160	161					7																	92735170		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.241G>T	7.37:g.92735170C>A	ENSP00000369292:p.Asp81Tyr		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D81Y	ENST00000379958.2	37	c.241	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194102	0.22037	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.23754	1.89;2.7	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.15219	0.0367	N	0.22421	0.69	0.09310	N	1	P	0.42785	0.79	B	0.38500	0.275	T	0.24190	-1.0167	10	0.49607	T	0.09	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	Y	81	ENSP00000369292:D81Y;ENSP00000414529:D81Y	ENSP00000369292:D81Y	D	-	1	0	SAMD9	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT	SAMD9	-	NULL		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92735170	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.000	A	A	92735170	C	A	92735170	3	1	131	1	0	0	0	0	1	0	0	0	13856	913	32	3	4532	3	SAMD9	7	92735170	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1433	92735170	66403493	893	21033										
SAMD9	54809	genome.wustl.edu	37	chr7	92735353	92735353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgactttctaaccactgatTtacatcctcttttgtccaat	3	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92735353T>G	ENST00000379958.2	-	3	327	c.58A>C	c.(58-60)Aat>Cat	p.N20H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	20	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACCACTGATTTACATCCTCT	0.323																																																	0													85	84	85					7																	92735353		2202	4299	6501	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.58A>C	7.37:g.92735353T>G	ENSP00000369292:p.Asn20His		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.N20H	ENST00000379958.2	37	c.58	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528315	0.44969	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.41400	1.0;1.0	4.79	3.56	0.40772	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.323144	0.28171	N	0.016329	T	0.31167	0.0788	L	0.34521	1.04	0.09310	N	0.99999	B	0.31256	0.316	B	0.31495	0.131	T	0.30909	-0.9962	10	0.59425	D	0.04	.	10.3406	0.43875	0.1474:0.0:0.0:0.8526	.	20	Q5K651	SAMD9_HUMAN	H	20	ENSP00000369292:N20H;ENSP00000414529:N20H	ENSP00000369292:N20H	N	-	1	0	SAMD9	92573289	0.072000	0.21174	0.992000	0.48379	0.728000	0.41692	2.530000	0.45641	2.149000	0.67028	0.491000	0.48974	AAT	SAMD9	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	T	NM_017654		92735353	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.535	G	G	92735353	T	G	92735353	3	3	131	1	0	0	0	0	1	0	0	0	13856	1841	64	5	4715	5	SAMD9	7	92735353	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	183	92735353	66403310	894	21034										
SAMD9L	219285	genome.wustl.edu	37	chr7	92764218	92764218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatctacatcccgttgcttgGaattggccaggatatcccta	8	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92764218G>A	ENST00000318238.4	-	5	2283	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S356F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S356F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	356					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCGTTGCTTGGAATTGGCCAG	0.368																																																	0													132	142	139					7																	92764218		2203	4300	6503	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1067C>T	7.37:g.92764218G>A	ENSP00000326247:p.Ser356Phe		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.S356F	ENST00000318238.4	37	c.1067	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	1.663	-0.510895	0.04231	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20463	2.07;2.07;2.07	4.55	-6.55	0.01854	.	3.427890	0.01466	N	0.016065	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.21151	0.033	T	0.17137	-1.0379	10	0.56958	D	0.05	5.7495	0.4931	0.00567	0.2391:0.2911:0.2219:0.2479	.	356	Q8IVG5	SAM9L_HUMAN	F	356	ENSP00000326247:S356F;ENSP00000405760:S356F;ENSP00000408796:S356F	ENSP00000326247:S356F	S	-	2	0	SAMD9L	92602154	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.327000	0.02682	-1.597000	0.01609	-0.384000	0.06662	TCC	SAMD9L	-	NULL		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	G	NM_152703		92764218	-1	no_errors	ENST00000318238	ensembl	human	known	70_37	missense	SNP	0.000	A	A	92764218	G	A	92764218	3	1	131	1	0	0	0	0	1	0	0	0	13857	1174	41	1	3691	1	SAMD9L	7	92764218	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	28865	92764218	66374445	895	21035										
GNGT1	2792	genome.wustl.edu	37	chr7	93540184	93540184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtaaagggcatcccagaggAcaaaaatcccttcaaggagc	11	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:93540184A>G	ENST00000248572.5	+	3	327	c.179A>G	c.(178-180)gAc>gGc	p.D60G	GNGT1_ENST00000429473.1_Missense_Mutation_p.D60G|GNGT1_ENST00000455502.1_3'UTR	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	60					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATCCCAGAGGACAAAAATCCC	0.368																																																	0													72	70	70					7																	93540184		2203	4300	6503	SO:0001583	missense	2792				CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.179A>G	7.37:g.93540184A>G	ENSP00000248572:p.Asp60Gly		A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.D60G	ENST00000248572.5	37	c.179	CCDS5633.1	7	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486895	0.84854	.	.	ENSG00000127928	ENST00000248572;ENST00000429473	T;T	0.19105	2.17;2.17	5.75	5.75	0.90469	G-protein gamma domain (5);	0.161592	0.53938	D	0.000059	T	0.30039	0.0752	.	.	.	0.80722	D	1	P	0.45348	0.856	P	0.47673	0.554	T	0.01232	-1.1411	9	0.42905	T	0.14	-22.5007	15.3473	0.74350	1.0:0.0:0.0:0.0	.	60	P63211	GBG1_HUMAN	G	60	ENSP00000248572:D60G;ENSP00000388777:D60G	ENSP00000248572:D60G	D	+	2	0	GNGT1	93378120	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	8.122000	0.89584	2.326000	0.78906	0.533000	0.62120	GAC	GNGT1	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma		0.368	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNGT1	HGNC	protein_coding	OTTHUMT00000254718.2	A	NM_021955		93540184	1	no_errors	ENST00000248572	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93540184	A	G	93540184	3	3	131	1	0	0	0	0	1	0	0	0	6552	275	10	5	185	5	GNGT1	7	93540184	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	775966	93540184	65598479	896	21036										
CASD1	64921	genome.wustl.edu	37	chr7	94174995	94174995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagcactatggccacaaataAtccaaaaaaaagcaaacggt	6	9	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:94174995A>C	ENST00000297273.4	+	12	1902	c.1615A>C	c.(1615-1617)Atc>Ctc	p.I539L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	539						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCACAAATAATCCAAAAAAA	0.294																																																	0													107	93	98					7																	94174995		2203	4299	6502	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1615A>C	7.37:g.94174995A>C	ENSP00000297273:p.Ile539Leu		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.I539L	ENST00000297273.4	37	c.1615	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279506	0.23307	.	.	ENSG00000127995	ENST00000297273	T	0.41758	0.99	5.02	5.02	0.67125	.	0.323940	0.32852	N	0.005578	T	0.15046	0.0363	N	0.02539	-0.55	0.22620	N	0.998923	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13548	-1.0505	10	0.18710	T	0.47	.	4.424	0.11495	0.6774:0.1976:0.125:0.0	.	539;539	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	539	ENSP00000297273:I539L	ENSP00000297273:I539L	I	+	1	0	CASD1	94012931	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.837000	0.55820	2.013000	0.59113	0.402000	0.26972	ATC	CASD1	-	pfam_Cas1_AcylTrans_dom		0.294	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	A	NM_022900		94174995	1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94174995	A	C	94174995	3	2	131	1	0	0	0	0	1	0	0	0	2669	101	4	5	1661	5	CASD1	7	94174995	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	634811	94174995	64963668	897	21037										
PON2	5445	genome.wustl.edu	37	chr7	95053833	95053833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttcatatacataccaattcCtttaatcaggtggcagtgtg	7	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:95053833C>T	ENST00000222572.3	-	2	385	c.139G>A	c.(139-141)Gga>Aga	p.G47R	PON2_ENST00000536183.1_Missense_Mutation_p.G68R|PON2_ENST00000433091.2_Missense_Mutation_p.G47R			Q15165	PON2_HUMAN	paraoxonase 2	47					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATACCAATTCCTTTAATCAGG	0.333																																					GBM(42;803 823 13649 23368 31463)												0													115	110	112					7																	95053833		2203	4300	6503	SO:0001583	missense	5445			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.139G>A	7.37:g.95053833C>T	ENSP00000222572:p.Gly47Arg		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.G68R	ENST00000222572.3	37	c.202	CCDS5640.1	7	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805631	0.70682	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.49432	0.78;0.78;0.78	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.177983	0.49305	D	0.000155	T	0.68476	0.3005	M	0.87900	2.915	0.58432	D	0.999996	D;D	0.56035	0.974;0.974	P;P	0.62560	0.904;0.904	T	0.71600	-0.4544	10	0.45353	T	0.12	-11.9183	13.1879	0.59693	0.0:1.0:0.0:0.0	.	47;47	A4D1H7;Q15165	.;PON2_HUMAN	R	68;45;47;47	ENSP00000440282:G68R;ENSP00000404622:G47R;ENSP00000222572:G47R	ENSP00000222572:G47R	G	-	1	0	PON2	94891769	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.757000	0.55212	2.566000	0.86566	0.460000	0.39030	GGA	PON2	-	prints_Arylesterase		0.333	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	C	NM_000305		95053833	-1	no_errors	ENST00000536183	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95053833	C	T	95053833	3	4	131	1	0	0	0	0	1	0	0	0	12273	690	24	4	957	4	PON2	7	95053833	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	878838	95053833	64084830	898	21038										
DYNC1I1	1780	genome.wustl.edu	37	chr7	95442584	95442584	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccctatgtctccctcctcGaaatcagtgagcactcccag	6	17	2	1	rs549738585	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:95442584G>T	ENST00000324972.6	+	4	493	c.300G>T	c.(298-300)tcG>tcT	p.S100S	DYNC1I1_ENST00000537881.1_Silent_p.S83S|DYNC1I1_ENST00000413338.1_Silent_p.S83S|DYNC1I1_ENST00000457059.1_Silent_p.S83S|DYNC1I1_ENST00000447467.2_Silent_p.S83S|DYNC1I1_ENST00000359388.4_Silent_p.S83S|DYNC1I1_ENST00000437599.1_Silent_p.S100S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	100	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCCCTCCTCGAAATCAGTGA	0.473																																																	1	Substitution - coding silent(1)	large_intestine(1)											96	94	95					7																	95442584		2203	4300	6503	SO:0001819	synonymous_variant	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.300G>T	7.37:g.95442584G>T			B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S100	ENST00000324972.6	37	c.300	CCDS5644.1	7																																																																																			DYNC1I1	-	NULL		0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	G	NM_004411		95442584	1	no_errors	ENST00000324972	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95442584	G	T	95442584	2	4	131	1	0	0	0	0	0	0	0	1	4852	1045	37	3		3	DYNC1I1	7	95442584	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	388751	95442584	63696079	899	21039										
LMTK2	22853	genome.wustl.edu	37	chr7	97821550	97821550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaactgtcccagctcacggcGctcaggagcgttgaacttga	12	12	2	2	rs371094313		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:97821550G>A	ENST00000297293.5	+	11	2066	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	591					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCTCACGGCGCTCAGGAGCG	0.517																																																	0								G		0,4406		0,0,2203	52	51	51		1773	-12.2	0	7		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LMTK2	NM_014916.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		591/1504	97821550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1773G>A	7.37:g.97821550G>A			A4D272|Q75MG7|Q9UPS3	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A591	ENST00000297293.5	37	c.1773	CCDS5654.1	7																																																																																			LMTK2	-	NULL		0.517	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	G	NM_014916		97821550	1	no_errors	ENST00000297293	ensembl	human	known	70_37	silent	SNP	0.000	A	A	97821550	G	A	97821550	2	1	131	1	0	0	0	0	0	0	0	1	8880	1074	38	2		2	LMTK2	7	97821550	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2378966	97821550	61317113	900	21040										
CPSF4	10898	genome.wustl.edu	37	chr7	99036754	99036754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acatcaagtttgacttggagAtcgcggtggagcagcagctg	14	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:99036754A>G	ENST00000292476.5	+	1	59	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.I17V|CPSF4_ENST00000436336.2_Missense_Mutation_p.I17V|PTCD1_ENST00000292478.4_5'Flank|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_5'Flank			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	17					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGACTTGGAGATCGCGGTGGA	0.716																																																	0													20	25	24					7																	99036754		2201	4298	6499	SO:0001583	missense	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.49A>G	7.37:g.99036754A>G	ENSP00000292476:p.Ile17Val		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.I17V	ENST00000292476.5	37	c.49	CCDS5664.1	7	.	.	.	.	.	.	.	.	.	.	A	6.954	0.545872	0.13312	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476	T;T;T	0.21543	2.0;2.03;2.0	4.07	4.07	0.47477	.	0.213049	0.39834	N	0.001254	T	0.14657	0.0354	L	0.32530	0.975	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.07424	-1.0773	10	0.21540	T	0.41	-13.727	9.8819	0.41238	0.697:0.303:0.0:0.0	.	17;17;17	O95639-3;O95639;O95639-2	.;CPSF4_HUMAN;.	V	17	ENSP00000395311:I17V;ENSP00000396060:I17V;ENSP00000292476:I17V	ENSP00000292476:I17V	I	+	1	0	CPSF4	98874690	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	1.713000	0.37951	1.705000	0.51264	0.519000	0.50382	ATC	CPSF4	-	NULL		0.716	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	A			99036754	1	no_errors	ENST00000292476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99036754	A	G	99036754	3	3	131	1	0	0	0	0	1	0	0	0	3833	333	12	5	51	5	CPSF4	7	99036754	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1215204	99036754	60101909	901	21041										
GNB2	2783	genome.wustl.edu	37	chr7	100276365	100276365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagctgcctcggggtcaccGacgatggcatggctgtggcc	16	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100276365G>A	ENST00000303210.4	+	10	1446	c.964G>A	c.(964-966)Gac>Aac	p.D322N	GNB2_ENST00000427895.1_Missense_Mutation_p.D222N|GNB2_ENST00000419828.1_Missense_Mutation_p.D222N|GNB2_ENST00000436220.1_Missense_Mutation_p.D278N|GNB2_ENST00000393924.1_Missense_Mutation_p.D322N|GNB2_ENST00000424361.1_Missense_Mutation_p.D278N|GNB2_ENST00000393926.1_Missense_Mutation_p.D322N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	322					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CGGGGTCACCGACGATGGCAT	0.657																																																	0													60	63	62					7																	100276365		2203	4300	6503	SO:0001583	missense	2783			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.964G>A	7.37:g.100276365G>A	ENSP00000305260:p.Asp322Asn		B3KPU1|P11016|P54312	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D322N	ENST00000303210.4	37	c.964	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	10.23	1.292244	0.23564	.	.	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.20357	0.565	0.46798	D	0.999204	B	0.30114	0.269	B	0.32624	0.149	T	0.34054	-0.9844	10	0.27082	T	0.32	-12.9148	16.3616	0.83270	0.0:0.0:1.0:0.0	.	322	P62879	GBB2_HUMAN	N	322;278;278;222;222;322;322	ENSP00000305260:D322N;ENSP00000401873:D278N;ENSP00000389391:D278N;ENSP00000390543:D222N;ENSP00000400286:D222N;ENSP00000377503:D322N;ENSP00000377501:D322N	ENSP00000305260:D322N	D	+	1	0	GNB2	100114301	0.927000	0.31430	0.994000	0.49952	0.841000	0.47740	4.387000	0.59626	2.729000	0.93468	0.555000	0.69702	GAC	GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	G	NM_005273		100276365	1	no_errors	ENST00000303210	ensembl	human	known	70_37	missense	SNP	0.972	A	A	100276365	G	A	100276365	3	1	131	1	0	0	0	0	1	0	0	0	6536	1058	37	1	998	1	GNB2	7	100276365	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1239611	100276365	58862298	902	21042										
ZAN	7455	genome.wustl.edu	37	chr7	100348282	100348282	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccttgaggctgacgagttCtcccaggcaggccagtcagt	12	12	2	2	rs150170459	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100348282C>A	ENST00000348028.3	+	0	1449				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGACGAGTTCTCCCAGGCAG	0.577																																																	0													32	32	32					7																	100348282		1977	4158	6135			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348282C>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.F428L	ENST00000348028.3	37	c.1284		7	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566443	0.45694	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02050	4.48;4.48;4.48	4.81	0.594	0.17485	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	1.184600	0.06277	N	0.696707	T	0.02230	0.0069	L	0.33189	0.99	0.35999	D	0.837243	B;B	0.12630	0.005;0.006	B;B	0.15052	0.007;0.012	T	0.33137	-0.9880	10	0.37606	T	0.19	.	3.5822	0.07958	0.1648:0.4457:0.2986:0.0909	.	428;428	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	428	ENSP00000445943:F428L;ENSP00000445091:F428L;ENSP00000444427:F428L	ENSP00000423579:F428L	F	+	3	2	ZAN	100186218	0.001000	0.12720	0.040000	0.18447	0.245000	0.25701	0.448000	0.21726	-0.008000	0.14320	0.650000	0.86243	TTC	ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100348282	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.146	A	A	100348282	C	A	100348282	1	1	131	0	1	0	0	0	0	0	0	0	17544	912	32	3		3	ZAN	7	100348282	RNA	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	71917	100348282	58790381	903	21043										
C7orf52	375607	genome.wustl.edu	37	chr7	100816802	100816802	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcaccgactccagcgcgatCtgcggaccgaggccgttagc	12	15	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100816802C>A	ENST00000300303.2	-	3	551		c.e3-1		NAT16_ENST00000455377.1_Splice_Site	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)								N-acetyltransferase activity (GO:0008080)										CCAGCGCGATCTGCGGACCGA	0.741																																																	0													17	18	18					7																	100816802		2192	4286	6478	SO:0001630	splice_region_variant	375607			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.313-1G>T	7.37:g.100816802C>A			B3KRS2|Q8NDR1	Splice_Site	SNP	-	e2-1	ENST00000300303.2	37	c.313-1	CCDS5713.1	7	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711109	0.68730	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	.	.	.	3.72	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9844	0.35986	0.0:0.8849:0.0:0.1151	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf52	100603522	1.000000	0.71417	0.286000	0.24833	0.983000	0.72400	4.362000	0.59467	0.875000	0.35847	0.462000	0.41574	.	NAT16	-	-		0.741	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	C	NM_198571	Intron	100816802	-1	no_errors	ENST00000300303	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	100816802	C	A	100816802	5	1	131	1	0	0	0	0	0	0	1	0	2406	927	32	3	805	3	C7orf52	7	100816802	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	468520	100816802	58321861	904	21044										
RELN	5649	genome.wustl.edu	37	chr7	103214561	103214561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatattcctggtgtccagagGgaccgtccgggcttcccttt	12	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:103214561G>T	ENST00000428762.1	-	30	4648	c.4489C>A	c.(4489-4491)Cct>Act	p.P1497T	RELN_ENST00000343529.5_Missense_Mutation_p.P1497T|RELN_ENST00000424685.2_Missense_Mutation_p.P1497T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1497					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGTCCAGAGGGACCGTCCGG	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													111	112	112					7																	103214561		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4489C>A	7.37:g.103214561G>T	ENSP00000392423:p.Pro1497Thr		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.P1497T	ENST00000428762.1	37	c.4489	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265097	0.80358	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.55481	1.735	0.49687	D	0.999811	P;P	0.41546	0.68;0.754	P;B	0.47705	0.555;0.249	T	0.04855	-1.0922	10	0.66056	D	0.02	.	15.5021	0.75705	0.0:0.1378:0.8622:0.0	.	1497;1497	P78509-2;P78509	.;RELN_HUMAN	T	1497	ENSP00000392423:P1497T;ENSP00000345694:P1497T;ENSP00000388446:P1497T	ENSP00000345694:P1497T	P	-	1	0	RELN	103001797	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.423000	0.80229	2.809000	0.96659	0.655000	0.94253	CCT	RELN	-	NULL		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103214561	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103214561	G	T	103214561	3	4	131	1	0	0	0	0	1	0	0	0	13250	1232	43	4	6037	4	RELN	7	103214561	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2397759	103214561	55924102	905	21045										
SRPK2	6733	genome.wustl.edu	37	chr7	105029109	105029109	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actcactttttcggatgtttCtctcttttcggcctccgctt	6	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:105029109C>A	ENST00000393651.3	-	2	144	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCGGATGTTTCTCTCTTTTCG	0.692																																																	0													68	73	71					7																	105029109		2203	4300	6503	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.57G>T	7.37:g.105029109C>A	ENSP00000377262:p.Glu19Asp			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.E19D	ENST00000393651.3	37	c.57	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	c	8.452	0.853234	0.17106	.	.	ENSG00000135250	ENST00000393651;ENST00000482897	T;T	0.44083	0.93;0.93	1.68	1.68	0.24146	.	2.135400	0.04219	U	0.333201	T	0.28532	0.0706	N	0.03608	-0.345	0.80722	D	1	B	0.32829	0.386	B	0.42462	0.388	T	0.21724	-1.0237	10	0.34782	T	0.22	.	6.7539	0.23501	0.0:1.0:0.0:0.0	.	19	P78362-2	.	D	19;56	ENSP00000377262:E19D;ENSP00000419240:E56D	ENSP00000377262:E19D	E	-	3	2	SRPK2	104816345	0.936000	0.31750	1.000000	0.80357	0.856000	0.48823	0.552000	0.23376	0.916000	0.36871	0.177000	0.17058	GAG	SRPK2	-	NULL		0.692	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		105029109	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105029109	C	A	105029109	3	1	131	1	0	0	0	0	1	0	0	0	15190	912	32	3	2144	3	SRPK2	7	105029109	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1814548	105029109	54109554	906	21046										
NRCAM	4897	genome.wustl.edu	37	chr7	107807496	107807496	+	Missense_Mutation	SNP	T	T	G													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccgagaaccatttacaatTtcttttctccattcttcttt							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:107807496T>G	ENST00000425651.2	-	27	3335	c.3336A>C	c.(3334-3336)gaA>gaC	p.E1112D	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Missense_Mutation_p.E1112D|NRCAM_ENST00000379022.4_Missense_Mutation_p.E1112D|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1112	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATTTACAATTTCTTTTCTCC	0.388																																																	0													76	77	77					7																	107807496		1873	4100	5973	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3336A>C	7.37:g.107807496T>G	ENSP00000401244:p.Glu1112Asp		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1112D	ENST00000425651.2	37	c.3336	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	T	13.91	2.379272	0.42207	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	T;T;T	0.57595	0.39;0.39;0.39	5.67	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149927	0.64402	N	0.000014	T	0.39253	0.1071	L	0.28192	0.835	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.19192	-1.0313	10	0.29301	T	0.29	.	13.3858	0.60795	0.0:0.0:0.1303:0.8697	.	1112	Q92823	NRCAM_HUMAN	D	1112	ENSP00000368314:E1112D;ENSP00000401244:E1112D;ENSP00000368308:E1112D	ENSP00000368308:E1112D	E	-	3	2	NRCAM	107594732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.659000	0.46741	2.284000	0.76573	0.523000	0.50628	GAA	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	T	NM_001037132		107807496	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107807496	T	G	107807496	3	3	131	1	0	0	0	0	1	0	0	0	10668	1838	64	5	624	5	NRCAM	7	107807496	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2778387	107807496	51331167	907	21047	123	2								
NRCAM	4897	genome.wustl.edu	37	chr7	107807498	107807498	+	Nonsense_Mutation	SNP	C	C	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgagaaccatttacaatttCttttctccattcttctttgc							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:107807498C>A	ENST00000425651.2	-	27	3333	c.3334G>T	c.(3334-3336)Gaa>Taa	p.E1112*	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.E1112*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.E1112*|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1112	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTTACAATTTCTTTTCTCCAT	0.383																																																	0													77	77	77					7																	107807498		1871	4099	5970	SO:0001587	stop_gained	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3334G>T	7.37:g.107807498C>A	ENSP00000401244:p.Glu1112*		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1112*	ENST00000425651.2	37	c.3334	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	46	12.668681	0.99687	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	.	.	.	5.67	4.79	0.61399	.	0.149927	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.2425	0.73482	0.0:0.9322:0.0:0.0678	.	.	.	.	X	1112	.	ENSP00000368308:E1112X	E	-	1	0	NRCAM	107594734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.249000	0.65427	1.532000	0.49169	0.643000	0.83706	GAA	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107807498	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	107807498	C	A	107807498	4	1	131	1	0	0	0	0	0	1	0	0	10668	922	32	3	626	3	NRCAM	7	107807498	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2	107807498	51331165	908	21048	123	2								
C7orf53	286006	genome.wustl.edu	37	chr7	112127090	112127090	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcctggcactggtttttttCgtgatatttctaataggtaa	9	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:112127090C>T	ENST00000312849.4	+	3	601	c.240C>T	c.(238-240)ttC>ttT	p.F80F	LSMEM1_ENST00000439068.2_Silent_p.F80F|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	80						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGGTTTTTTTCGTGATATTTC	0.413																																																	0													161	155	157					7																	112127090		2203	4300	6503	SO:0001819	synonymous_variant	286006			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 53"	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.240C>T	7.37:g.112127090C>T			Q49AR6	Silent	SNP	NULL	p.F80	ENST00000312849.4	37	c.240	CCDS5756.1	7																																																																																			C7orf53	-	NULL		0.413	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf53	HGNC	protein_coding	OTTHUMT00000338716.2	C	NM_182597		112127090	1	no_errors	ENST00000312849	ensembl	human	known	70_37	silent	SNP	0.680	T	T	112127090	C	T	112127090	2	4	131	1	0	0	0	0	0	0	0	1	2407	883	31	1		1	C7orf53	7	112127090	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4319592	112127090	47011573	909	21049										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518224	113518224	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctgaacttctggaaacttCttcaggtttagactcaggat	8	9	4	2	rs369050094		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:113518224C>A	ENST00000284601.3	-	4	2991	c.2923G>T	c.(2923-2925)Gaa>Taa	p.E975*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	975					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGGAAACTTCTTCAGGTTTA	0.378																																																	0													90	90	90					7																	113518224		2202	4297	6499	SO:0001587	stop_gained	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2923G>T	7.37:g.113518224C>A	ENSP00000284601:p.Glu975*		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E975*	ENST00000284601.3	37	c.2923	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237291	0.79800	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.71	5.71	0.89125	.	0.547984	0.17752	N	0.163202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.4035	14.0553	0.64764	0.0:0.9281:0.0:0.0719	.	.	.	.	X	975	.	ENSP00000284601:E975X	E	-	1	0	PPP1R3A	113305460	0.437000	0.25593	0.524000	0.27887	0.134000	0.20937	2.577000	0.46042	2.680000	0.91292	0.650000	0.86243	GAA	PPP1R3A	-	NULL		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	C	NM_002711		113518224	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	nonsense	SNP	0.250	A	A	113518224	C	A	113518224	4	1	131	1	0	0	0	0	0	1	0	0	12398	922	32	3	449	3	PPP1R3A	7	113518224	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1391134	113518224	45620439	910	21050										
TFEC	22797	genome.wustl.edu	37	chr7	115580805	115580805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtatgacaaaggatcagaaaAggctatagcttgatcacaga	10	6	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:115580805A>G	ENST00000265440.7	-	8	1024	c.844T>C	c.(844-846)Ttt>Ctt	p.F282L	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.F215L|TFEC_ENST00000320239.7_Missense_Mutation_p.F253L	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	282	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGATCAGAAAAGGCTATAGCT	0.443																																																	0													175	165	169					7																	115580805		2203	4300	6503	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.844T>C	7.37:g.115580805A>G	ENSP00000265440:p.Phe282Leu		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F282L	ENST00000265440.7	37	c.844	CCDS5762.1	7	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477298	0.84640	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.78707	-1.2;-1.2;-1.2	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	L	0.48877	1.53	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.928;0.994	T	0.79598	-0.1737	10	0.18710	T	0.47	-10.8276	15.2992	0.73933	1.0:0.0:0.0:0.0	.	253;282	O14948-2;O14948	.;TFEC_HUMAN	L	282;215;253	ENSP00000265440:F282L;ENSP00000387650:F215L;ENSP00000318676:F253L	ENSP00000265440:F282L	F	-	1	0	TFEC	115368041	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.609000	0.90898	2.012000	0.59069	0.528000	0.53228	TTT	TFEC	-	pfam_bHLH_ZIP_TF_MiT/TFE		0.443	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4	A	NM_012252		115580805	-1	no_errors	ENST00000265440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115580805	A	G	115580805	3	3	131	1	0	0	0	0	1	0	0	0	15832	72	3	5	203	5	TFEC	7	115580805	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2062581	115580805	43557858	911	21051										
CAPZA2	830	genome.wustl.edu	37	chr7	116528223	116528223	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcattcatgcccctcctggaGaatttaatgaggttttcaat	7	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:116528223G>T	ENST00000361183.3	+	2	221	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	CAPZA2_ENST00000458284.2_Nonsense_Mutation_p.E28*|CAPZA2_ENST00000490693.1_Nonsense_Mutation_p.E28*	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	28					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.E28*(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CCCTCCTGGAGAATTTAATGA	0.338																																																	1	Substitution - Nonsense(1)	large_intestine(1)											92	95	94					7																	116528223		2203	4298	6501	SO:0001587	stop_gained	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.82G>T	7.37:g.116528223G>T	ENSP00000354947:p.Glu28*		B4DG50	Nonsense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.E28*	ENST00000361183.3	37	c.82	CCDS5768.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.9|23.9	4.471051|4.471051	0.84533|0.84533	.|.	.|.	ENSG00000198898|ENSG00000198898	ENST00000464223;ENST00000484325|ENST00000361183;ENST00000458284;ENST00000490693	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.81574|.	0.4851|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82973|.	-0.0191|.	5|.	0.87932|0.87932	D|D	0|0	-19.3167|-19.3167	18.9609|18.9609	0.92677|0.92677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	5|28	.|.	ENSP00000420640:E5D|ENSP00000354947:E28X	E|E	+|+	3|1	2|0	CAPZA2|CAPZA2	116315459|116315459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.490000|7.490000	0.81461|0.81461	2.776000|2.776000	0.95493|0.95493	0.586000|0.586000	0.80456|0.80456	GAG|GAA	CAPZA2	-	pfam_WASH_F-actin_cap_alpha		0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	G	NM_006136		116528223	1	no_errors	ENST00000361183	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	116528223	G	T	116528223	4	4	131	1	0	0	0	0	0	1	0	0	2646	943	33	3	88	3	CAPZA2	7	116528223	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	947418	116528223	42610440	912	21052										
CFTR	1080	genome.wustl.edu	37	chr7	117251805	117251805	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctggttccaaatgagaataGaaatgatttttgtcatcttc	8	6	2	3	rs397508538		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:117251805G>T	ENST00000003084.6	+	20	3442	c.3310G>T	c.(3310-3312)Gaa>Taa	p.E1104*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E1043*|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1104	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AATGAGAATAGAAATGATTTT	0.358									Cystic Fibrosis																																								0			GRCh37	CM950255	CFTR	M							116	101	106					7																	117251805		2203	4300	6503	SO:0001587	stop_gained	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3310G>T	7.37:g.117251805G>T	ENSP00000003084:p.Glu1104*		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.E1104*	ENST00000003084.6	37	c.3310	CCDS5773.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.988342|9.988342	0.99312|0.99312	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.090388|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	-17.8739|-17.8739	19.8015|19.8015	0.96509|0.96509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	1104;1043;1074|45	.|.	ENSP00000003084:E1104X|.	E|X	+|+	1|3	0|2	CFTR|CFTR	117039041|117039041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.759000|9.759000	0.98931|0.98931	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GAA|TAG	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	G	NM_000492		117251805	1	no_errors	ENST00000003084	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	117251805	G	T	117251805	4	4	131	1	0	0	0	0	0	1	0	0	3299	943	33	3	3388	3	CFTR	7	117251805	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	723582	117251805	41886858	913	21053										
PTPRZ1	5803	genome.wustl.edu	37	chr7	121608065	121608065	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtaatagcccaaaacaatCtcctatcaatattgatgaag	5	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:121608065C>A	ENST00000393386.2	+	3	596	c.185C>A	c.(184-186)tCt>tAt	p.S62Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S62Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	62	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAAACAATCTCCTATCAAT	0.303																																																	0													71	74	73					7																	121608065		2203	4295	6498	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.185C>A	7.37:g.121608065C>A	ENSP00000377047:p.Ser62Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S62Y	ENST00000393386.2	37	c.185	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299846	0.81136	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.76060	-0.99;-0.99	5.53	5.53	0.82687	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000002	D	0.91808	0.7408	H	0.97340	3.985	0.46113	D	0.998875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	10	0.87932	D	0	.	19.8228	0.96604	0.0:1.0:0.0:0.0	.	62;62	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	62	ENSP00000377047:S62Y;ENSP00000410000:S62Y	ENSP00000377047:S62Y	S	+	2	0	PTPRZ1	121395301	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	7.163000	0.77524	2.759000	0.94783	0.650000	0.86243	TCT	PTPRZ1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.303	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121608065	1	no_errors	ENST00000393386	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121608065	C	A	121608065	3	1	131	1	0	0	0	0	1	0	0	0	12844	913	32	3	195	3	PTPRZ1	7	121608065	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4356260	121608065	37530598	914	21054										
RNF133	168433	genome.wustl.edu	37	chr7	122338779	122338779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccactctcttcaaagtggagCttcttccaaagactccagtc	6	14	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:122338779C>T	ENST00000340112.2	-	1	431	c.194G>A	c.(193-195)aGc>aAc	p.S65N	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	65	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CAAAGTGGAGCTTCTTCCAAA	0.423																																					Colon(198;1778 2057 7449 19869 45985)												0													105	108	107					7																	122338779		2203	4300	6503	SO:0001583	missense	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.194G>A	7.37:g.122338779C>T	ENSP00000344489:p.Ser65Asn		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S65N	ENST00000340112.2	37	c.194	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	C	1.853	-0.464540	0.04476	.	.	ENSG00000188050	ENST00000340112	T	0.13778	2.56	6.06	4.23	0.50019	.	0.349867	0.29410	N	0.012233	T	0.09730	0.0239	L	0.35723	1.085	0.80722	D	1	B	0.12630	0.006	B	0.14578	0.011	T	0.17198	-1.0377	10	0.14656	T	0.56	.	7.3881	0.26895	0.0:0.5294:0.3256:0.145	.	65	Q8WVZ7	RN133_HUMAN	N	65	ENSP00000344489:S65N	ENSP00000344489:S65N	S	-	2	0	RNF133	122126015	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	0.699000	0.25586	0.864000	0.35578	-0.140000	0.14226	AGC	RNF133	-	NULL		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	C	NM_139175		122338779	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	missense	SNP	0.999	T	T	122338779	C	T	122338779	3	4	131	1	0	0	0	0	1	0	0	0	13469	797	28	4	940	4	RNF133	7	122338779	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	730714	122338779	36799884	915	21055										
TAS2R16	50833	genome.wustl.edu	37	chr7	122635279	122635279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagggatgattgttacacaaGtaatcatcagagaacccagt	9	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:122635279G>A	ENST00000249284.2	-	1	475	c.410C>T	c.(409-411)aCt>aTt	p.T137I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	137					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTTACACAAGTAATCATCAG	0.408																																																	0													125	120	122					7																	122635279		2203	4300	6503	SO:0001583	missense	50833			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.410C>T	7.37:g.122635279G>A	ENSP00000249284:p.Thr137Ile		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T137I	ENST00000249284.2	37	c.410	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538853	0.27475	.	.	ENSG00000128519	ENST00000249284	T	0.38240	1.15	4.56	2.71	0.32032	.	0.570520	0.16445	N	0.214137	T	0.25754	0.0627	L	0.44542	1.39	0.09310	N	1	P	0.47302	0.893	B	0.38225	0.268	T	0.12372	-1.0550	10	0.52906	T	0.07	.	6.2297	0.20728	0.1017:0.1887:0.7095:0.0	.	137	Q9NYV7	T2R16_HUMAN	I	137	ENSP00000249284:T137I	ENSP00000249284:T137I	T	-	2	0	TAS2R16	122422515	0.113000	0.22115	0.009000	0.14445	0.014000	0.08584	1.855000	0.39378	0.635000	0.30488	0.655000	0.94253	ACT	TAS2R16	-	pfam_TAS2_rcpt		0.408	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	G	NM_016945		122635279	-1	no_errors	ENST00000249284	ensembl	human	known	70_37	missense	SNP	0.006	A	A	122635279	G	A	122635279	3	1	131	1	0	0	0	0	1	0	0	0	15599	1029	36	4	469	4	TAS2R16	7	122635279	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	296500	122635279	36503384	916	21056										
HYAL4	23553	genome.wustl.edu	37	chr7	123508682	123508682	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcccacagaacataagtttaCaagtacatctggaaaaagct	6	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:123508682C>T	ENST00000223026.4	+	3	993	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.Q119*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	119					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CATAAGTTTACAAGTACATCT	0.388																																																	0													72	79	77					7																	123508682		2203	4300	6503	SO:0001587	stop_gained	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.355C>T	7.37:g.123508682C>T	ENSP00000223026:p.Gln119*		D0VXG1|Q9UL99|Q9Y6T9	Nonsense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20	p.Q119*	ENST00000223026.4	37	c.355	CCDS5789.1	7	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430176	0.43122	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	.	.	.	5.59	3.76	0.43208	.	0.184813	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.4337	10.5637	0.45161	0.2702:0.5997:0.1301:0.0	.	.	.	.	X	119	.	.	Q	+	1	0	HYAL4	123295918	0.873000	0.30073	0.715000	0.30552	0.444000	0.32077	0.563000	0.23547	0.701000	0.31803	-0.219000	0.12488	CAA	HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.388	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	C	NM_012269		123508682	1	no_errors	ENST00000223026	ensembl	human	known	70_37	nonsense	SNP	0.975	T	T	123508682	C	T	123508682	4	4	131	1	0	0	0	0	0	1	0	0	7486	479	17	4	357	4	HYAL4	7	123508682	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	873403	123508682	35629981	917	21057										
GRM8	2918	genome.wustl.edu	37	chr7	126883055	126883055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtgaatccccttttccttCttcagctccccacaaggcac	5	17	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:126883055C>A	ENST00000339582.2	-	2	1012	c.204G>T	c.(202-204)aaG>aaT	p.K68N	GRM8_ENST00000444921.2_Missense_Mutation_p.K68N|GRM8_ENST00000405249.1_Missense_Mutation_p.K68N|GRM8_ENST00000358373.3_Missense_Mutation_p.K68N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	68					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTTTTCCTTCTTCAGCTCCC	0.522										HNSCC(24;0.065)																																							0													90	71	77					7																	126883055		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.204G>T	7.37:g.126883055C>A	ENSP00000344173:p.Lys68Asn		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.K68N	ENST00000339582.2	37	c.204	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275796	0.23307	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	6.17	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	N	0.25426	0.745	0.58432	D	0.999998	D;B	0.76494	0.999;0.23	D;B	0.80764	0.994;0.05	T	0.57118	-0.7866	10	0.15499	T	0.54	.	9.071	0.36493	0.0:0.7846:0.0:0.2154	.	68;68	O00222-2;O00222	.;GRM8_HUMAN	N	68	ENSP00000344173:K68N;ENSP00000409790:K68N;ENSP00000351142:K68N;ENSP00000385731:K68N;ENSP00000415522:K68N	ENSP00000344173:K68N	K	-	3	2	GRM8	126670291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.739000	0.38217	1.637000	0.50538	0.655000	0.94253	AAG	GRM8	-	NULL		0.522	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	C			126883055	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126883055	C	A	126883055	3	1	131	1	0	0	0	0	1	0	0	0	6823	912	32	3	2612	3	GRM8	7	126883055	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3374373	126883055	32255608	918	21058										
ZNF800	168850	genome.wustl.edu	37	chr7	127014976	127014976	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaaatactgcattttgattAgtttctatgggttctagctt	8	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:127014976A>C	ENST00000393313.1	-	5	1005	c.414T>G	c.(412-414)acT>acG	p.T138T	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Silent_p.T138T|ZNF800_ENST00000265827.3_Silent_p.T138T			Q2TB10	ZN800_HUMAN	zinc finger protein 800	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CATTTTGATTAGTTTCTATGG	0.353																																																	0													106	104	105					7																	127014976		2203	4300	6503	SO:0001819	synonymous_variant	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.414T>G	7.37:g.127014976A>C			Q9HBN0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T138	ENST00000393313.1	37	c.414	CCDS5795.1	7																																																																																			ZNF800	-	NULL		0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	A	NM_176814		127014976	-1	no_errors	ENST00000265827	ensembl	human	known	70_37	silent	SNP	0.711	C	C	127014976	A	C	127014976	2	2	131	1	0	0	0	0	0	0	0	1	18199	407	15	5		5	ZNF800	7	127014976	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	131921	127014976	32123687	919	21059										
EXOC4	60412	genome.wustl.edu	37	chr7	133692523	133692523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagaaaatgtgtaggaacatTtttgttcttcagcagaattt	8	4	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:133692523T>G	ENST00000253861.4	+	17	2651	c.2622T>G	c.(2620-2622)atT>atG	p.I874M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I773M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I484M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I162M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	874					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTAGGAACATTTTTGTTCTTC	0.493																																																	0													84	71	75					7																	133692523		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2622T>G	7.37:g.133692523T>G	ENSP00000253861:p.Ile874Met		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.I874M	ENST00000253861.4	37	c.2622	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604606	0.66445	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	-3.24	0.05094	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	L	0.49513	1.565	0.47621	D	0.999479	D;P;D	0.89917	1.0;0.937;0.998	D;P;D	0.70935	0.971;0.767;0.915	T	0.65088	-0.6253	9	0.48119	T	0.1	.	14.5891	0.68351	0.0:0.6658:0.0:0.3342	.	406;484;874	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	M	874;493;773;484;162	.	ENSP00000253861:I874M	I	+	3	3	EXOC4	133343063	0.960000	0.32886	0.989000	0.46669	0.987000	0.75469	0.068000	0.14531	-0.487000	0.06735	-0.353000	0.07706	ATT	EXOC4	-	NULL		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	T	NM_021807		133692523	1	no_errors	ENST00000253861	ensembl	human	known	70_37	missense	SNP	0.988	G	G	133692523	T	G	133692523	3	3	131	1	0	0	0	0	1	0	0	0	5318	1829	64	5	2697	5	EXOC4	7	133692523	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6677547	133692523	25446140	920	21060										
LRGUK	136332	genome.wustl.edu	37	chr7	133943057	133943057	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttcattgtttcggttctgTccgtggtcaaaagaattgcc	10	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:133943057T>C	ENST00000285928.2	+	19	2316	c.2247T>C	c.(2245-2247)tgT>tgC	p.C749C		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	749						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTCGGTTCTGTCCGTGGTCAA	0.453																																																	0													146	138	141					7																	133943057		2203	4300	6503	SO:0001819	synonymous_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2247T>C	7.37:g.133943057T>C			Q2M3I1	Silent	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.C749	ENST00000285928.2	37	c.2247	CCDS5830.1	7																																																																																			LRGUK	-	NULL		0.453	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	T	NM_144648		133943057	1	no_errors	ENST00000285928	ensembl	human	known	70_37	silent	SNP	0.000	C	C	133943057	T	C	133943057	2	2	131	1	0	0	0	0	0	0	0	1	8966	1673	58	5		5	LRGUK	7	133943057	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	250534	133943057	25195606	921	21061										
CHRM2	1129	genome.wustl.edu	37	chr7	136700256	136700256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catatcccgagccagcaagaGcaggataaagaaggacaaga	11	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:136700256G>A	ENST00000445907.2	+	3	1172	c.644G>A	c.(643-645)aGc>aAc	p.S215N	CHRM2_ENST00000401861.1_Missense_Mutation_p.S215N|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S215N|CHRM2_ENST00000320658.5_Missense_Mutation_p.S215N|CHRM2_ENST00000397608.3_Missense_Mutation_p.S215N|CHRM2_ENST00000402486.3_Missense_Mutation_p.S215N|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	215					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCAGCAAGAGCAGGATAAAG	0.473																																																	0													52	47	49					7																	136700256		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.644G>A	7.37:g.136700256G>A	ENSP00000399745:p.Ser215Asn		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.S215N	ENST00000445907.2	37	c.644	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730032	0.48939	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.102311	0.64402	D	0.000004	T	0.41696	0.1170	L	0.58925	1.835	0.80722	D	1	B	0.28400	0.21	B	0.33960	0.173	T	0.18147	-1.0346	10	0.27785	T	0.31	-40.1147	19.4315	0.94772	0.0:0.0:1.0:0.0	.	215	P08172	ACM2_HUMAN	N	215	ENSP00000399745:S215N;ENSP00000415386:S215N;ENSP00000319984:S215N;ENSP00000380733:S215N;ENSP00000384937:S215N;ENSP00000384401:S215N	ENSP00000319984:S215N	S	+	2	0	CHRM2	136350796	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.003000	0.88520	2.600000	0.87896	0.655000	0.94253	AGC	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700256	1	no_errors	ENST00000320658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136700256	G	A	136700256	3	1	131	1	0	0	0	0	1	0	0	0	3382	971	34	4	646	4	CHRM2	7	136700256	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2757199	136700256	22438407	922	21062										
KIAA1549	57670	genome.wustl.edu	37	chr7	138588463	138588463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acttcattctggagttgcttCtccatgacgcccaggagaac	9	12	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:138588463C>A	ENST00000422774.1	-	8	3588	c.3540G>T	c.(3538-3540)gaG>gaT	p.E1180D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E1130D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.E1180D			Q9HCM3	K1549_HUMAN	KIAA1549	1180						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGAGTTGCTTCTCCATGACGC	0.498			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													49	48	48					7																	138588463		1964	4150	6114	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3540G>T	7.37:g.138588463C>A	ENSP00000416040:p.Glu1180Asp		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.E1180D	ENST00000422774.1	37	c.3540	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009733	0.19277	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.94;1.94;1.93	4.71	2.88	0.33553	.	0.160220	0.53938	D	0.000046	T	0.09113	0.0225	N	0.03177	-0.4	0.35157	D	0.770304	B;B	0.33964	0.434;0.38	B;B	0.34418	0.182;0.114	T	0.26950	-1.0088	10	0.12103	T	0.63	.	6.3345	0.21289	0.0:0.6531:0.1649:0.182	.	1180;1180	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	1180;1130;1180	ENSP00000406661:E1180D;ENSP00000242365:E1130D;ENSP00000416040:E1180D	ENSP00000242365:E1130D	E	-	3	2	KIAA1549	138239003	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	0.485000	0.22324	0.581000	0.29539	0.591000	0.81541	GAG	KIAA1549	-	NULL		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	C			138588463	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138588463	C	A	138588463	3	1	131	1	0	0	0	0	1	0	0	0	8264	912	32	3	2364	3	KIAA1549	7	138588463	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1888207	138588463	20550200	923	21063										
DENND2A	27147	genome.wustl.edu	37	chr7	140301317	140301317	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggcagaggaggcagatttCttttctctttcctgaagccg	12	9	2	3	rs368471013		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:140301317C>A	ENST00000275884.6	-	2	1298	c.881G>T	c.(880-882)aGa>aTa	p.R294I	DENND2A_ENST00000537639.1_Missense_Mutation_p.R294I|DENND2A_ENST00000496613.1_Missense_Mutation_p.R294I|DENND2A_ENST00000492720.1_Missense_Mutation_p.R294I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	294					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					aggCAGATTTCTTTTCTCTTT	0.567																																																	0								C	ILE/ARG	0,3950		0,0,1975	68	74	72		881	3.7	0.4	7		72	1,8315		0,1,4157	no	missense	DENND2A	NM_015689.3	97	0,1,6132	AA,AC,CC		0.012,0.0,0.0082	possibly-damaging	294/1010	140301317	1,12265	1975	4158	6133	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.881G>T	7.37:g.140301317C>A	ENSP00000275884:p.Arg294Ile		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R294I	ENST00000275884.6	37	c.881	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693168	0.68271	0.0	1.2E-4	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11169	3.51;3.51;3.51;2.8	4.61	3.73	0.42828	.	0.351278	0.30732	N	0.008984	T	0.24470	0.0593	L	0.60455	1.87	0.58432	D	0.999999	D;B	0.63880	0.993;0.107	P;B	0.62089	0.898;0.017	T	0.00812	-1.1556	10	0.42905	T	0.14	-16.0064	12.6952	0.56999	0.0:0.9203:0.0:0.0797	.	294;294	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	I	294	ENSP00000275884:R294I;ENSP00000442245:R294I;ENSP00000419654:R294I;ENSP00000419464:R294I	ENSP00000275884:R294I	R	-	2	0	DENND2A	139947786	1.000000	0.71417	0.360000	0.25837	0.982000	0.71751	4.468000	0.60162	1.174000	0.42811	0.462000	0.41574	AGA	DENND2A	-	NULL		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140301317	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	0.996	A	A	140301317	C	A	140301317	3	1	131	1	0	0	0	0	1	0	0	0	4439	913	32	3	2220	3	DENND2A	7	140301317	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1712854	140301317	18837346	924	21064										
DENND2A	27147	genome.wustl.edu	37	chr7	140302122	140302122	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaagggttctgaacacctcTgagctgcttcttcccagccc	9	15	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:140302122T>G	ENST00000275884.6	-	2	493	c.76A>C	c.(76-78)Aga>Cga	p.R26R	DENND2A_ENST00000537639.1_Silent_p.R26R|DENND2A_ENST00000496613.1_Silent_p.R26R|DENND2A_ENST00000492720.1_Silent_p.R26R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	26					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGAACACCTCTGAGCTGCTTC	0.517																																																	0													107	100	102					7																	140302122		1958	4161	6119	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.76A>C	7.37:g.140302122T>G			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R26	ENST00000275884.6	37	c.76	CCDS43659.1	7																																																																																			DENND2A	-	NULL		0.517	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	T	NM_015689		140302122	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	silent	SNP	0.000	G	G	140302122	T	G	140302122	2	3	131	1	0	0	0	0	0	0	0	1	4439	1588	55	5		5	DENND2A	7	140302122	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	805	140302122	18836541	925	21065										
ZNF425	155054	genome.wustl.edu	37	chr7	148802632	148802632	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttaaacggcaatcctcttCttttgtcctgggagttcctt	7	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:148802632C>A	ENST00000378061.2	-	4	463	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	111					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E111Q(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAATCCTCTTCTTTTGTCCTG	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											83	79	80					7																	148802632		2203	4300	6503	SO:0001587	stop_gained	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.331G>T	7.37:g.148802632C>A	ENSP00000367300:p.Glu111*		B3KPM1|Q08AG3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E111*	ENST00000378061.2	37	c.331	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818523	0.16607	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	.	.	.	2.45	-0.615	0.11587	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	6.4511	0.21903	0.0:0.6084:0.0:0.3916	.	.	.	.	X	111;133	.	ENSP00000367300:E111X	E	-	1	0	ZNF425	148433565	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.026000	0.13599	-0.334000	0.08463	-0.742000	0.03525	GAA	ZNF425	-	NULL		0.423	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	C	XM_088140		148802632	-1	no_errors	ENST00000378061	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	148802632	C	A	148802632	4	1	131	1	0	0	0	0	0	1	0	0	17929	922	32	3	1931	3	ZNF425	7	148802632	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	8500510	148802632	10336031	926	21066										
ZNF862	643641	genome.wustl.edu	37	chr7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcgttccagagatctccagcGacctcatggccaacatggag	10	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:149557897G>A	ENST00000223210.4	+	7	1893	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GATCTCCAGCGACCTCATGGC	0.512																																																	0													66	69	68					7																	149557897		2085	4216	6301	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1648G>A	7.37:g.149557897G>A	ENSP00000223210:p.Asp550Asn		A0AUL8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.D550N	ENST00000223210.4	37	c.1648	CCDS47741.1	7	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667248	0.67814	.	.	ENSG00000106479	ENST00000223210	T	0.01076	5.37	4.98	4.98	0.66077	.	0.217321	0.32147	N	0.006519	T	0.02533	0.0077	M	0.76328	2.33	0.29412	N	0.861153	D	0.52996	0.957	B	0.43155	0.41	T	0.28933	-1.0028	10	0.42905	T	0.14	-31.0478	13.7753	0.63050	0.0:0.0:1.0:0.0	.	550	O60290	ZN862_HUMAN	N	550	ENSP00000223210:D550N	ENSP00000223210:D550N	D	+	1	0	ZNF862	149188830	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	3.908000	0.56355	2.320000	0.78422	0.655000	0.94253	GAC	ZNF862	-	NULL		0.512	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	G	NM_001099220		149557897	1	no_errors	ENST00000223210	ensembl	human	known	70_37	missense	SNP	0.993	A	A	149557897	G	A	149557897	3	1	131	1	0	0	0	0	1	0	0	0	18225	1058	37	1	1674	1	ZNF862	7	149557897	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	755265	149557897	9580766	927	21067										
NOS3	4846	genome.wustl.edu	37	chr7	150698430	150698430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgcagactgggcctggatcGtgccccccatctcgggcagc	13	16	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:150698430G>A	ENST00000484524.1	+	10	1345	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	NOS3_ENST00000297494.3_Missense_Mutation_p.V449M|NOS3_ENST00000467517.1_Missense_Mutation_p.V449M|NOS3_ENST00000461406.1_Missense_Mutation_p.V243M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTGGATCGTGCCCCCCAT	0.627																																																	0													61	59	60					7																	150698430		2203	4300	6503	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1345G>A	7.37:g.150698430G>A	ENSP00000420215:p.Val449Met		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V449M	ENST00000484524.1	37	c.1345	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553575	0.86127	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.03	5.03	0.67393	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.52532	D	0.000066	T	0.69735	0.3144	M	0.93898	3.47	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	T	0.79120	-0.1934	10	0.87932	D	0	-19.3493	15.8587	0.79005	0.0:0.0:1.0:0.0	.	449;449;449;243;449	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	449;243;449;449	ENSP00000297494:V449M;ENSP00000417143:V243M;ENSP00000420215:V449M;ENSP00000420551:V449M	ENSP00000297494:V449M	V	+	1	0	NOS3	150329363	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	7.959000	0.87885	2.325000	0.78763	0.561000	0.74099	GTG	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.627	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	G	NM_000603		150698430	1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150698430	G	A	150698430	3	1	131	1	0	0	0	0	1	0	0	0	10568	1145	40	2	1383	2	NOS3	7	150698430	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1140533	150698430	8440233	928	21068										
NUB1	51667	genome.wustl.edu	37	chr7	151053226	151053226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttacagcagcagagacagTggtggatccagaaatgacac	12	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:151053226T>G	ENST00000355851.4	+	7	688	c.611T>G	c.(610-612)gTg>gGg	p.V204G	NUB1_ENST00000566856.1_Missense_Mutation_p.V204G|NUB1_ENST00000568733.1_Missense_Mutation_p.V228G|NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000413040.2_Missense_Mutation_p.V228G	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	204					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAGAGACAGTGGTGGATCCA	0.398																																																	0													100	92	95					7																	151053226		1986	4166	6152	SO:0001583	missense	51667			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.611T>G	7.37:g.151053226T>G	ENSP00000348110:p.Val204Gly		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V228G	ENST00000355851.4	37	c.683		7	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525060	0.27299	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000483358	T;T	0.44881	0.91;0.92	4.04	4.04	0.47022	.	0.462432	0.22506	N	0.059163	T	0.18130	0.0435	N	0.03608	-0.345	0.47123	D	0.999327	B;B	0.27823	0.19;0.185	B;B	0.24701	0.039;0.055	T	0.06734	-1.0810	10	0.37606	T	0.19	-24.4293	7.0086	0.24849	0.2026:0.0:0.0:0.7973	.	204;204	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	G	204	ENSP00000348110:V204G;ENSP00000420086:V204G	ENSP00000348110:V204G	V	+	2	0	NUB1	150684159	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.509000	0.35780	2.059000	0.61396	0.533000	0.62120	GTG	NUB1	-	NULL		0.398	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		T	NM_016118		151053226	1	no_errors	ENST00000568733	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151053226	T	G	151053226	3	3	131	1	0	0	0	0	1	0	0	0	10738	1696	59	5	633	5	NUB1	7	151053226	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	354796	151053226	8085437	929	21069										
PAXIP1	22976	genome.wustl.edu	37	chr7	154751640	154751640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttttaagggaactctccaaGcatctaaagagagaaacaca	7	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:154751640G>A	ENST00000404141.1	-	13	2592	c.2438C>T	c.(2437-2439)gCt>gTt	p.A813V	RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.A813V			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	813	Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AACTCTCCAAGCATCTAAAGA	0.338																																																	0													128	124	125					7																	154751640		1824	4080	5904	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2438C>T	7.37:g.154751640G>A	ENSP00000384048:p.Ala813Val		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A813V	ENST00000404141.1	37	c.2438	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866697	0.72065	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.50548	0.74;0.74	4.81	4.81	0.61882	.	0.000000	0.52532	U	0.000080	T	0.68439	0.3001	M	0.71581	2.175	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.993	D;D;D	0.72625	0.931;0.941;0.978	T	0.73075	-0.4097	10	0.72032	D	0.01	-24.2795	17.9072	0.88921	0.0:0.0:1.0:0.0	.	766;779;813	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	V	813;813;637;766	ENSP00000384048:A813V;ENSP00000380376:A813V	ENSP00000319149:A766V	A	-	2	0	PAXIP1	154382573	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.594000	0.82698	2.226000	0.72624	0.650000	0.86243	GCT	PAXIP1	-	NULL		0.338	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	G	NM_007349		154751640	-1	no_errors	ENST00000397192	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154751640	G	A	154751640	3	1	131	1	0	0	0	0	1	0	0	0	11511	971	34	4	807	4	PAXIP1	7	154751640	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3698414	154751640	4387023	930	21070										
WDR60	55112	genome.wustl.edu	37	chr7	158662589	158662589	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaagcagatgacctcagaaAacatctctgggtaattattg	9	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:158662589A>C	ENST00000407559.3	+	2	217	c.59A>C	c.(58-60)aAa>aCa	p.K20T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	20					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GACCTCAGAAAACATCTCTGG	0.353																																																	0													95	87	90					7																	158662589		1835	4088	5923	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.59A>C	7.37:g.158662589A>C	ENSP00000384290:p.Lys20Thr		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K20T	ENST00000407559.3	37	c.59	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	A	9.789	1.177322	0.21787	.	.	ENSG00000126870	ENST00000407559;ENST00000397143	T;T	0.68479	1.31;-0.33	5.4	-3.06	0.05379	.	0.332809	0.31747	N	0.007131	T	0.60130	0.2245	L	0.50333	1.59	0.29466	N	0.857405	D	0.54047	0.964	P	0.47346	0.544	T	0.64202	-0.6463	10	0.72032	D	0.01	-13.791	10.9738	0.47454	0.4731:0.0:0.5269:0.0	.	20	Q8WVS4	WDR60_HUMAN	T	20;30	ENSP00000384290:K20T;ENSP00000380330:K30T	ENSP00000380330:K30T	K	+	2	0	WDR60	158355350	1.000000	0.71417	0.755000	0.31263	0.007000	0.05969	0.553000	0.23391	-0.870000	0.04047	-0.376000	0.06991	AAA	WDR60	-	NULL		0.353	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	A	NM_018051		158662589	1	no_errors	ENST00000407559	ensembl	human	known	70_37	missense	SNP	0.883	C	C	158662589	A	C	158662589	3	2	131	1	0	0	0	0	1	0	0	0	17342	14	1	5	65	5	WDR60	7	158662589	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3910949	158662589	476074	931	21071										
VIPR2	7434	genome.wustl.edu	37	chr7	158851185	158851185	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccttacctgaagaggcacaGaattatgcttcctgttgcaa	8	10	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:158851185G>T	ENST00000262178.2	-	5	627	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	VIPR2_ENST00000402066.1_Missense_Mutation_p.L289M|VIPR2_ENST00000377633.3_Missense_Mutation_p.L132M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	148					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AAGAGGCACAGAATTATGCTT	0.423																																					Pancreas(154;1876 1931 2329 17914 20079)												0													156	153	154					7																	158851185		2203	4300	6503	SO:0001583	missense	7434			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.442C>A	7.37:g.158851185G>T	ENSP00000262178:p.Leu148Met		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.L148M	ENST00000262178.2	37	c.442	CCDS5950.1	7	.	.	.	.	.	.	.	.	.	.	g	17.69	3.452070	0.63290	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.53857	0.6;0.6;0.6	5.7	4.8	0.61643	GPCR, family 2-like (1);	0.139662	0.32687	N	0.005773	T	0.64649	0.2617	M	0.80508	2.5	0.80722	D	1	P	0.37548	0.599	P	0.48454	0.578	T	0.65005	-0.6273	9	.	.	.	.	11.6588	0.51334	0.0:0.0:0.8161:0.1839	.	148	P41587	VIPR2_HUMAN	M	148;132;289	ENSP00000262178:L148M;ENSP00000366860:L132M;ENSP00000384497:L289M	.	L	-	1	2	VIPR2	158543946	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.413000	0.44618	1.352000	0.45808	0.651000	0.88453	CTG	VIPR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.423	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR2	HGNC	protein_coding	OTTHUMT00000322675.1	G	NM_003382		158851185	-1	no_errors	ENST00000262178	ensembl	human	known	70_37	missense	SNP	1.000	T	T	158851185	G	T	158851185	3	4	131	1	0	0	0	0	1	0	0	0	17201	933	33	3	910	3	VIPR2	7	158851185	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	188596	158851185	287478	932	21072										
MYOM2	9172	genome.wustl.edu	37	chr8	2044137	2044137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctcaactgtgacggccacTccatgaccctcggctggaag	10	15	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:2044137T>C	ENST00000262113.4	+	18	2317	c.2176T>C	c.(2176-2178)Tcc>Ccc	p.S726P	MYOM2_ENST00000523438.1_Missense_Mutation_p.S151P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	726	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGACGGCCACTCCATGACCCT	0.577																																																	0													134	118	124					8																	2044137		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2176T>C	8.37:g.2044137T>C	ENSP00000262113:p.Ser726Pro		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S726P	ENST00000262113.4	37	c.2176	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380970	0.61845	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.63417	-0.04;-0.04	5.47	1.59	0.23543	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.187677	0.48767	D	0.000180	D	0.82683	0.5090	H	0.96633	3.855	0.42012	D	0.990942	D	0.89917	1.0	D	0.97110	1.0	T	0.81042	-0.1112	10	0.66056	D	0.02	.	7.7021	0.28630	0.2433:0.0:0.1275:0.6292	.	726	P54296	MYOM2_HUMAN	P	726;151	ENSP00000262113:S726P;ENSP00000428396:S151P	ENSP00000262113:S726P	S	+	1	0	MYOM2	2031544	1.000000	0.71417	0.844000	0.33320	0.543000	0.35085	4.549000	0.60726	0.022000	0.15160	-0.488000	0.04728	TCC	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	T	NM_003970		2044137	1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	0.980	C	C	2044137	T	C	2044137	3	2	131	1	0	0	0	0	1	0	0	0	10115	1551	54	5	2242	5	MYOM2	8	2044137	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09		2044137	144319885	933	21073										
CSMD1	64478	genome.wustl.edu	37	chr8	3000164	3000164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaggaagtcatgattagcttCggtagaaaaattcagaaact	9	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:3000164C>T	ENST00000520002.1	-	42	6622	c.6067G>A	c.(6067-6069)Gaa>Aaa	p.E2023K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2023K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2023K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2022K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2023K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2022K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E2022K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2023	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATTAGCTTCGGTAGAAAAA	0.398																																																	0													130	132	131					8																	3000164		1861	4088	5949	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6067G>A	8.37:g.3000164C>T	ENSP00000430733:p.Glu2023Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E2023K	ENST00000520002.1	37	c.6067		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428846|4.428846	0.83667|0.83667	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.58652|.	0.32;0.32;0.32;0.32;1.16|.	5.24|5.24	5.24|5.24	0.73138|0.73138	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90359|0.90359	0.6983|0.6983	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.994;1.0;0.997|.	D|D	0.93585|0.93585	0.6916|0.6916	10|5	0.41790|.	T|.	0.15|.	.|.	19.2056|19.2056	0.93729|0.93729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2023;2023;2022|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	K|Q	2023;2023;1884;2022;2022;2022|1502	ENSP00000383047:E2023K;ENSP00000430733:E2023K;ENSP00000441462:E2022K;ENSP00000446243:E2022K;ENSP00000441675:E2022K|.	ENSP00000320445:E1884K|.	E|R	-|-	1|2	0|0	CSMD1|CSMD1	2987571|2987571	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.294000|0.294000	0.27393|0.27393	7.600000|7.600000	0.82769|0.82769	2.605000|2.605000	0.88082|0.88082	0.591000|0.591000	0.81541|0.81541	GAA|CGA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3000164	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3000164	C	T	3000164	3	4	131	1	0	0	0	0	1	0	0	0	3949	893	31	1	4750	1	CSMD1	8	3000164	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	956027	3000164	143363858	934	21074										
CSMD1	64478	genome.wustl.edu	37	chr8	3611469	3611469	+	Missense_Mutation	SNP	A	A	C													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccttggaactgagcgttaAatcctttgcgtcggtggttg							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:3611469A>C	ENST00000520002.1	-	6	1469	c.914T>G	c.(913-915)tTt>tGt	p.F305C	CSMD1_ENST00000400186.3_Missense_Mutation_p.F305C|CSMD1_ENST00000602723.1_Missense_Mutation_p.F305C|CSMD1_ENST00000537824.1_Missense_Mutation_p.F305C|CSMD1_ENST00000602557.1_Missense_Mutation_p.F305C|CSMD1_ENST00000542608.1_Missense_Mutation_p.F305C|CSMD1_ENST00000539096.1_Missense_Mutation_p.F305C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	305	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAGCGTTAAATCCTTTGCG	0.413																																																	0													101	96	98					8																	3611469		1845	4084	5929	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.914T>G	8.37:g.3611469A>C	ENSP00000430733:p.Phe305Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F305C	ENST00000520002.1	37	c.914		8	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969161	0.53614	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	6.08	6.08	0.98989	.	.	.	.	.	D	0.89856	0.6836	H	0.99090	4.425	0.44871	D	0.997883	D	0.89917	1.0	D	0.91635	0.999	D	0.93795	0.7096	9	0.66056	D	0.02	.	16.3246	0.82970	1.0:0.0:0.0:0.0	.	305	E5RIG2	.	C	305;305;167;305;305;305	ENSP00000383047:F305C;ENSP00000430733:F305C;ENSP00000441462:F305C;ENSP00000446243:F305C;ENSP00000441675:F305C	ENSP00000320445:F167C	F	-	2	0	CSMD1	3598877	1.000000	0.71417	0.278000	0.24718	0.131000	0.20780	8.979000	0.93455	2.333000	0.79357	0.482000	0.46254	TTT	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	A	NM_033225		3611469	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3611469	A	C	3611469	3	2	131	1	0	0	0	0	1	0	0	0	3949	14	1	5	9853	5	CSMD1	8	3611469	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	611305	3611469	142752553	935	21075	124	2								
CSMD1	64478	genome.wustl.edu	37	chr8	3611473	3611473	+	Nonsense_Mutation	SNP	C	C	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggaactgagcgttaaatcCtttgcgtcggtggttgctgt							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:3611473C>A	ENST00000520002.1	-	6	1465	c.910G>T	c.(910-912)Gga>Tga	p.G304*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G304*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G304*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	304	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G304*(1)|p.G32*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTTAAATCCTTTGCGTCGG	0.413																																																	2	Substitution - Nonsense(2)	large_intestine(2)											103	98	100					8																	3611473		1847	4087	5934	SO:0001587	stop_gained	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.910G>T	8.37:g.3611473C>A	ENSP00000430733:p.Gly304*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G304*	ENST00000520002.1	37	c.910		8	.	.	.	.	.	.	.	.	.	.	C	39	7.420572	0.98272	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	304;304;166;304;304;304	.	ENSP00000320445:G166X	G	-	1	0	CSMD1	3598881	1.000000	0.71417	0.944000	0.38274	0.173000	0.22820	7.524000	0.81866	2.894000	0.99253	0.591000	0.81541	GGA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3611473	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3611473	C	A	3611473	4	1	131	1	0	0	0	0	0	1	0	0	3949	690	24	4	9857	4	CSMD1	8	3611473	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4	3611473	142752549	936	21076	124	2								
CSMD1	64478	genome.wustl.edu	37	chr8	4494910	4494910	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtccatcgtaaactgataAaatatcaaaatcttcttcaa	3	9	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:4494910A>C	ENST00000520002.1	-	2	811	c.256T>G	c.(256-258)Tta>Gta	p.L86V	CSMD1_ENST00000400186.3_Missense_Mutation_p.L86V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L86V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L86V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L86V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L86V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L86V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAAACTGATAAAATATCAAAA	0.388																																																	0													119	120	120					8																	4494910		1887	4126	6013	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.256T>G	8.37:g.4494910A>C	ENSP00000430733:p.Leu86Val		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L86V	ENST00000520002.1	37	c.256		8	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132967	0.37630	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.18	0.148	0.14843	.	.	.	.	.	T	0.22513	0.0543	N	0.17379	0.485	0.24484	N	0.994339	B	0.11235	0.004	B	0.19666	0.026	T	0.25984	-1.0116	9	0.87932	D	0	.	8.362	0.32363	0.6785:0.0:0.3215:0.0	.	86	E5RIG2	.	V	86	ENSP00000383047:L86V;ENSP00000430733:L86V;ENSP00000441462:L86V;ENSP00000446243:L86V;ENSP00000441675:L86V	ENSP00000383047:L86V	L	-	1	2	CSMD1	4482318	0.917000	0.31117	0.215000	0.23724	0.891000	0.51852	0.940000	0.28992	-0.199000	0.10317	0.477000	0.44152	TTA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	A	NM_033225		4494910	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.998	C	C	4494910	A	C	4494910	3	2	131	1	0	0	0	0	1	0	0	0	3949	11	1	5	10527	5	CSMD1	8	4494910	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	883437	4494910	141869112	937	21077										
XKR5	389610	genome.wustl.edu	37	chr8	6669501	6669501	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggacaataggcaggactgtTatctccaaaggcggcattga	12	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:6669501T>C	ENST00000518724.1	-	0	1430							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCAGGACTGTTATCTCCAAAG	0.522																																																	0													80	69	72					8																	6669501		692	1591	2283			389610			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669501T>C			Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-		0.522	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	T	NM_207411		6669501	-1	no_errors	ENST00000405979	ensembl	human	known	70_37	rna	SNP	0.000	C	C	6669501	T	C	6669501	1	2	131	0	1	0	0	0	0	0	0	0	17465	1754	61	5		5	XKR5	8	6669501	RNA	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2174591	6669501	139694521	938	21078										
SGCZ	137868	genome.wustl.edu	37	chr8	15095119	15095119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctcctcaatgtccaggttcGttgatctgtccatggagcgc	11	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:15095119G>A	ENST00000382080.1	-	1	729	c.14C>T	c.(13-15)aCg>aTg	p.T5M		NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	0					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCCAGGTTCGTTGATCTGTC	0.587																																																	0													41	42	42					8																	15095119		2198	4287	6485	SO:0001583	missense	137868			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.14C>T	8.37:g.15095119G>A	ENSP00000371512:p.Thr5Met		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.T5M	ENST00000382080.1	37	c.14	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395427	0.25205	.	.	ENSG00000185053	ENST00000382080	D	0.86956	-2.19	4.05	4.05	0.47172	.	0.753487	0.12291	N	0.482017	T	0.79930	0.4531	.	.	.	0.21841	N	0.999519	B	0.33904	0.431	B	0.22880	0.042	T	0.73920	-0.3830	9	0.72032	D	0.01	.	12.1268	0.53920	0.0:0.1738:0.8262:0.0	.	5	Q96LD1-2	.	M	5	ENSP00000371512:T5M	ENSP00000371512:T5M	T	-	2	0	SGCZ	15139490	0.030000	0.19436	0.075000	0.20258	0.829000	0.46940	2.111000	0.41883	2.553000	0.86117	0.561000	0.74099	ACG	SGCZ	-	NULL		0.587	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	G	NM_139167		15095119	-1	no_errors	ENST00000382080	ensembl	human	known	70_37	missense	SNP	0.033	A	A	15095119	G	A	15095119	3	1	131	1	0	0	0	0	1	0	0	0	14234	1145	40	2	956	2	SGCZ	8	15095119	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8425618	15095119	131268903	939	21079										
MSR1	4481	genome.wustl.edu	37	chr8	16007814	16007814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccgatcacctttaagacccGgaggacctacattattaacg	7	13	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:16007814G>A	ENST00000262101.5	-	7	1026	c.905C>T	c.(904-906)cCg>cTg	p.P302L	MSR1_ENST00000536385.1_Missense_Mutation_p.P76L|MSR1_ENST00000381998.4_Missense_Mutation_p.P302L|MSR1_ENST00000350896.3_Missense_Mutation_p.P302L|MSR1_ENST00000445506.2_Missense_Mutation_p.P320L|MSR1_ENST00000355282.2_Missense_Mutation_p.P302L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	302	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTAAGACCCGGAGGACCTAC	0.373																																																	0													39	39	39					8																	16007814		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.905C>T	8.37:g.16007814G>A	ENSP00000262101:p.Pro302Leu		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.P302L	ENST00000262101.5	37	c.905	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462990	0.63513	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;T	0.96685	-4.09;-3.76;-3.76;-4.09;-4.09;-4.09;-0.56	4.38	3.47	0.39725	.	0.283474	0.25267	N	0.031914	D	0.97334	0.9128	M	0.77616	2.38	0.46564	D	0.999107	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.998	D;P;P;P;D	0.64776	0.929;0.889;0.905;0.759;0.918	D	0.96973	0.9710	10	0.62326	D	0.03	.	10.676	0.45787	0.0:0.1953:0.8047:0.0	.	76;320;302;302;302	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	L	302;302;320;302;92;302;76	ENSP00000262100:P302L;ENSP00000262101:P302L;ENSP00000405453:P320L;ENSP00000347430:P302L;ENSP00000430536:P92L;ENSP00000371428:P302L;ENSP00000444414:P76L	ENSP00000262101:P302L	P	-	2	0	MSR1	16052185	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.078000	0.30754	1.105000	0.41606	0.650000	0.86243	CCG	MSR1	-	pfam_Collagen		0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	G			16007814	-1	no_errors	ENST00000262101	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16007814	G	A	16007814	3	1	131	1	0	0	0	0	1	0	0	0	9909	1116	39	2	514	2	MSR1	8	16007814	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	912695	16007814	130356208	940	21080										
MSR1	4481	genome.wustl.edu	37	chr8	16032763	16032763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaagggcaatcagtgcagcTttgaaggacttcagtttctc	10	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:16032763T>G	ENST00000262101.5	-	3	271	c.150A>C	c.(148-150)aaA>aaC	p.K50N	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.K50N|MSR1_ENST00000350896.3_Missense_Mutation_p.K50N|MSR1_ENST00000445506.2_Missense_Mutation_p.K68N|MSR1_ENST00000355282.2_Missense_Mutation_p.K50N			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	50					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCAGTGCAGCTTTGAAGGACT	0.413																																																	0													157	151	153					8																	16032763		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.150A>C	8.37:g.16032763T>G	ENSP00000262101:p.Lys50Asn		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.K50N	ENST00000262101.5	37	c.150	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	T	17.83	3.486400	0.63962	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960	D;D;D;D;D;T	0.93659	-2.82;-2.49;-2.52;-2.82;-3.26;0.5	5.34	1.59	0.23543	Macrophage scavenger receptor (1);	0.097413	0.45126	D	0.000392	D	0.95130	0.8422	M	0.74881	2.28	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	D	0.88043	0.2782	10	0.87932	D	0	.	6.7414	0.23439	0.0:0.2771:0.0:0.7229	.	68;50;50;50	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	N	50;50;68;50;50;50	ENSP00000262100:K50N;ENSP00000262101:K50N;ENSP00000405453:K68N;ENSP00000347430:K50N;ENSP00000371428:K50N;ENSP00000427905:K50N	ENSP00000262101:K50N	K	-	3	2	MSR1	16077134	0.575000	0.26692	0.580000	0.28601	0.960000	0.62799	0.771000	0.26633	0.397000	0.25310	0.528000	0.53228	AAA	MSR1	-	prints_Macro_scav_rcpt		0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	T			16032763	-1	no_errors	ENST00000262101	ensembl	human	known	70_37	missense	SNP	0.148	G	G	16032763	T	G	16032763	3	3	131	1	0	0	0	0	1	0	0	0	9909	1606	56	5	1285	5	MSR1	8	16032763	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	24949	16032763	130331259	941	21081										
EFHA2	286097	genome.wustl.edu	37	chr8	16944530	16944530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaattaaaggagatgaagaaAagcgtgcaatgctggtaaga	12	3	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:16944530A>G	ENST00000318063.5	+	7	877	c.835A>G	c.(835-837)Aag>Gag	p.K279E		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	279						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AGATGAAGAAAAGCGTGCAAT	0.294																																																	0													98	108	104					8																	16944530		2203	4299	6502	SO:0001583	missense	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.835A>G	8.37:g.16944530A>G	ENSP00000321455:p.Lys279Glu		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K279E	ENST00000318063.5	37	c.835	CCDS5999.1	8	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701237	0.48307	.	.	ENSG00000155970	ENST00000318063	T	0.46451	0.87	5.46	5.46	0.80206	.	0.173178	0.47852	D	0.000205	T	0.36991	0.0987	L	0.54323	1.7	0.80722	D	1	B	0.32245	0.361	B	0.23419	0.046	T	0.16630	-1.0396	10	0.30854	T	0.27	-15.8963	14.6429	0.68739	1.0:0.0:0.0:0.0	.	279	Q86XE3	EFHA2_HUMAN	E	279	ENSP00000321455:K279E	ENSP00000321455:K279E	K	+	1	0	EFHA2	16988901	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.294000	0.72738	2.205000	0.71048	0.477000	0.44152	AAG	EFHA2	-	NULL		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	A	NM_181723		16944530	1	no_errors	ENST00000318063	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16944530	A	G	16944530	3	3	131	1	0	0	0	0	1	0	0	0	4954	15	1	5	861	5	EFHA2	8	16944530	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	911767	16944530	129419492	942	21082										
ATP6V1B2	526	genome.wustl.edu	37	chr8	20070411	20070411	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttcttatgctgaagcacttCgagaggtaagttgttcatgt	11	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:20070411C>T	ENST00000276390.2	+	9	962	c.922C>T	c.(922-924)Cga>Tga	p.R308*		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	308					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TGAAGCACTTCGAGAGGTAAG	0.373																																					Pancreas(119;1230 1726 3901 4036 31644)												0													140	126	131					8																	20070411		2203	4300	6503	SO:0001587	stop_gained	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.922C>T	8.37:g.20070411C>T	ENSP00000276390:p.Arg308*		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Nonsense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.R308*	ENST00000276390.2	37	c.922	CCDS6014.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.756648	0.96898	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	.	.	.	4.9	4.9	0.64082	.	0.053125	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4833	12.2844	0.54783	0.1696:0.8304:0.0:0.0	.	.	.	.	X	308;182	.	ENSP00000276390:R308X	R	+	1	2	ATP6V1B2	20114691	0.058000	0.20735	1.000000	0.80357	0.912000	0.54170	0.384000	0.20668	2.699000	0.92147	0.655000	0.94253	CGA	ATP6V1B2	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu		0.373	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B2	HGNC	protein_coding	OTTHUMT00000253732.1	C	NM_001693		20070411	1	no_errors	ENST00000276390	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	20070411	C	T	20070411	4	4	131	1	0	0	0	0	0	1	0	0	1180	876	31	1	956	1	ATP6V1B2	8	20070411	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3125881	20070411	126293611	943	21083										
RHOBTB2	23221	genome.wustl.edu	37	chr8	22865591	22865591	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactggatggctgccatgttTggggggccatttgtggagag	18	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:22865591T>C	ENST00000251822.6	+	6	2124	c.1587T>C	c.(1585-1587)ttT>ttC	p.F529F	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.F536F|RHOBTB2_ENST00000519685.1_Silent_p.F551F|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	529	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGCCATGTTTGGGGGGCCAT	0.562																																																	0													64	66	65					8																	22865591		2203	4300	6503	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1587T>C	8.37:g.22865591T>C			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.F529	ENST00000251822.6	37	c.1587	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.562	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	T			22865591	1	no_errors	ENST00000251822	ensembl	human	known	70_37	silent	SNP	1.000	C	C	22865591	T	C	22865591	2	2	131	1	0	0	0	0	0	0	0	1	13364	1809	63	5		5	RHOBTB2	8	22865591	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2795180	22865591	123498431	944	21084										
TNFRSF10B	8795	genome.wustl.edu	37	chr8	22884718	22884718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctggctcctggacttccatTtcctgctcagggacctgggt	12	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:22884718T>G	ENST00000276431.4	-	7	1148	c.864A>C	c.(862-864)gaA>gaC	p.E288D	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E108D|TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E259D	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	288					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGACTTCCATTTCCTGCTCAG	0.542																																					GBM(94;1064 1342 1839 21060 42553)												0													94	87	89					8																	22884718		2203	4300	6503	SO:0001583	missense	8795			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.864A>C	8.37:g.22884718T>G	ENSP00000276431:p.Glu288Asp		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.E288D	ENST00000276431.4	37	c.864	CCDS6035.1	8	.	.	.	.	.	.	.	.	.	.	t	12.62	1.991896	0.35131	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.87029	-2.03;-2.2;2.6	2.6	0.0185	0.14117	.	7779.790000	0.00166	U	0.000015	D	0.88100	0.6346	L	0.58810	1.83	0.09310	N	1	P;D;D;D;P	0.67145	0.953;0.996;0.988;0.99;0.953	P;P;P;P;P	0.56278	0.551;0.787;0.76;0.795;0.551	T	0.71347	-0.4620	10	0.17369	T	0.5	.	2.94	0.05826	0.0:0.1515:0.2607:0.5878	.	108;288;288;259;53	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	D	288;259;108	ENSP00000276431:E288D;ENSP00000317859:E259D;ENSP00000443386:E108D	ENSP00000276431:E288D	E	-	3	2	TNFRSF10B	22940663	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.160000	0.10041	0.003000	0.14656	-0.256000	0.11100	GAA	TNFRSF10B	-	pirsf_TNFR_10		0.542	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF10B	HGNC	protein_coding	OTTHUMT00000215099.2	T	NM_147187		22884718	-1	no_errors	ENST00000276431	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22884718	T	G	22884718	3	3	131	1	0	0	0	0	1	0	0	0	16311	1838	64	5	470	5	TNFRSF10B	8	22884718	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	19127	22884718	123479304	945	21085										
NEFM	4741	genome.wustl.edu	37	chr8	24775212	24775212	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagccagaaaaagccaagtCtcctgtgccaaaatcaccag	7	12	2	1	rs368372835		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:24775212C>A	ENST00000221166.5	+	3	2626	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	NEFM_ENST00000437366.2_Missense_Mutation_p.S615Y|NEFM_ENST00000521540.1_Intron|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.S239Y			P07197	NFM_HUMAN	neurofilament, medium polypeptide	615	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGCCAAGTCTCCTGTGCCA	0.512																																																	0													67	71	70					8																	24775212		2203	4300	6503	SO:0001583	missense	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1844C>A	8.37:g.24775212C>A	ENSP00000221166:p.Ser615Tyr		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.S615Y	ENST00000221166.5	37	c.1844	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995701	0.35226	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.96073	-1.86;-1.98;-3.9	4.46	4.46	0.54185	.	0.396649	0.19305	N	0.117552	D	0.91626	0.7354	N	0.08118	0	0.21897	N	0.999488	D	0.56968	0.978	P	0.52267	0.694	D	0.85848	0.1402	10	0.72032	D	0.01	.	11.1916	0.48687	0.1842:0.8158:0.0:0.0	.	615	P07197	NFM_HUMAN	Y	615;615;239	ENSP00000221166:S615Y;ENSP00000410137:S615Y;ENSP00000412295:S239Y	ENSP00000221166:S615Y	S	+	2	0	NEFM	24831117	0.058000	0.20735	0.977000	0.42913	0.913000	0.54294	0.810000	0.27183	2.019000	0.59389	0.313000	0.20887	TCT	NEFM	-	NULL		0.512	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	C	NM_005382		24775212	1	no_errors	ENST00000221166	ensembl	human	known	70_37	missense	SNP	0.497	A	A	24775212	C	A	24775212	3	1	131	1	0	0	0	0	1	0	0	0	10340	913	32	3	1854	3	NEFM	8	24775212	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1890494	24775212	121588810	946	21086										
DOCK5	80005	genome.wustl.edu	37	chr8	25156598	25156598	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatggccctctacgacccaGaccagtccacttttatcagg	7	14	2	1	rs138086965		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:25156598G>T	ENST00000276440.7	+	8	789	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	DOCK5_ENST00000481100.1_Missense_Mutation_p.D249Y	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	249					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTACGACCCAGACCAGTCCAC	0.522																																					Pancreas(145;34 1887 3271 10937 30165)												0													91	77	81					8																	25156598		2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.745G>T	8.37:g.25156598G>T	ENSP00000276440:p.Asp249Tyr		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D249Y	ENST00000276440.7	37	c.745	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.412391|3.412391	0.62511|0.62511	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000481100;ENST00000276440|ENST00000444569	T;T|.	0.43688|.	0.94;0.94|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71143|0.71143	0.3305|0.3305	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B|.	0.30526|.	0.283|.	B|.	0.31191|.	0.125|.	T|T	0.68021|0.68021	-0.5519|-0.5519	10|5	0.66056|.	D|.	0.02|.	.|.	18.691|18.691	0.91582|0.91582	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	249|.	Q9H7D0|.	DOCK5_HUMAN|.	Y|H	249|47	ENSP00000429737:D249Y;ENSP00000276440:D249Y|.	ENSP00000276440:D249Y|.	D|Q	+|+	1|3	0|2	DOCK5|DOCK5	25212515|25212515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	6.398000|6.398000	0.73244|0.73244	2.639000|2.639000	0.89480|0.89480	0.555000|0.555000	0.69702|0.69702	GAC|CAG	DOCK5	-	NULL		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	G	NM_024940		25156598	1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25156598	G	T	25156598	3	4	131	1	0	0	0	0	1	0	0	0	4700	942	33	3	775	3	DOCK5	8	25156598	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	381386	25156598	121207424	947	21087										
DOCK5	80005	genome.wustl.edu	37	chr8	25226173	25226173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtagagctccggaaagccAcaatccccattttctttgat	7	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:25226173A>G	ENST00000276440.7	+	33	3414	c.3370A>G	c.(3370-3372)Aca>Gca	p.T1124A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1124					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGAAAGCCACAATCCCCAT	0.443																																					Pancreas(145;34 1887 3271 10937 30165)												0													73	72	72					8																	25226173		2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3370A>G	8.37:g.25226173A>G	ENSP00000276440:p.Thr1124Ala		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.T1124A	ENST00000276440.7	37	c.3370	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.1|29.1	4.977291|4.977291	0.92982|0.92982	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.60299	.|0.2	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70228|0.70228	0.3200|0.3200	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.51653	.|0.947;0.947;0.947	.|P;P;P	.|0.54401	.|0.751;0.677;0.751	T|T	0.74103|0.74103	-0.3773|-0.3773	5|10	.|0.72032	.|D	.|0.01	.|.	16.1467|16.1467	0.81577|0.81577	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1114;899;1124	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	R|A	895|1124	.|ENSP00000276440:T1124A	.|ENSP00000276440:T1124A	H|T	+|+	2|1	0|0	DOCK5|DOCK5	25282090|25282090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.123000|6.123000	0.71614|0.71614	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	CAC|ACA	DOCK5	-	superfamily_ARM-type_fold		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	A	NM_024940		25226173	1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25226173	A	G	25226173	3	3	131	1	0	0	0	0	1	0	0	0	4700	159	6	5	3500	5	DOCK5	8	25226173	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	69575	25226173	121137849	948	21088										
DOCK5	80005	genome.wustl.edu	37	chr8	25227100	25227100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagctgatcacaaagctggAccaggaggtagaagggggca	16	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:25227100A>G	ENST00000276440.7	+	34	3511	c.3467A>G	c.(3466-3468)gAc>gGc	p.D1156G		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1156					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAAGCTGGACCAGGAGGTA	0.433																																					Pancreas(145;34 1887 3271 10937 30165)												0													82	66	71					8																	25227100		2203	4299	6502	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3467A>G	8.37:g.25227100A>G	ENSP00000276440:p.Asp1156Gly		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D1156G	ENST00000276440.7	37	c.3467	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	A	28.5	4.922547	0.92319	.	.	ENSG00000147459	ENST00000276440	T	0.29397	1.57	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73956	-0.3819	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	1146;931;1156	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	G	1156	ENSP00000276440:D1156G	ENSP00000276440:D1156G	D	+	2	0	DOCK5	25283017	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	GAC	DOCK5	-	superfamily_ARM-type_fold		0.433	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	A	NM_024940		25227100	1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25227100	A	G	25227100	3	3	131	1	0	0	0	0	1	0	0	0	4700	275	10	5	3601	5	DOCK5	8	25227100	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	927	25227100	121136922	949	21089										
PPP2R2A	5520	genome.wustl.edu	37	chr8	26217696	26217696	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttcccagataaaacaataAaattatggaaaatcagtgaa	5	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:26217696A>C	ENST00000380737.3	+	5	687	c.358A>C	c.(358-360)Aaa>Caa	p.K120Q	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K130Q	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	120					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAAAACAATAAAATTATGGAA	0.318																																																	0													63	67	66					8																	26217696		2203	4299	6502	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.358A>C	8.37:g.26217696A>C	ENSP00000370113:p.Lys120Gln		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.K120Q	ENST00000380737.3	37	c.358	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003690	0.93287	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.30981	1.51;1.51	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.65903	0.2736	H	0.94925	3.6	0.80722	D	1	D;D	0.65815	0.995;0.993	D;D	0.68943	0.961;0.936	T	0.77148	-0.2694	10	0.87932	D	0	-3.1456	15.3529	0.74402	1.0:0.0:0.0:0.0	.	130;120	B4E1T7;P63151	.;2ABA_HUMAN	Q	120;130	ENSP00000370113:K120Q;ENSP00000325074:K130Q	ENSP00000325074:K130Q	K	+	1	0	PPP2R2A	26273613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.109000	0.94291	2.095000	0.63458	0.477000	0.44152	AAA	PPP2R2A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.318	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	A	NM_002717		26217696	1	no_errors	ENST00000380737	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26217696	A	C	26217696	3	2	131	1	0	0	0	0	1	0	0	0	12411	15	1	5	417	5	PPP2R2A	8	26217696	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	990596	26217696	120146326	950	21090										
ESCO2	157570	genome.wustl.edu	37	chr8	27633950	27633950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttatcaaaacagtgataAaaatgaagaaaacctgcatt	5	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:27633950A>C	ENST00000305188.8	+	3	363	c.125A>C	c.(124-126)aAa>aCa	p.K42T	ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	42					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AACAGTGATAAAAATGAAGAA	0.328									SC Phocomelia syndrome																																								0													35	36	36					8																	27633950		2201	4298	6499	SO:0001583	missense	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.125A>C	8.37:g.27633950A>C	ENSP00000306999:p.Lys42Thr		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.K42T	ENST00000305188.8	37	c.125	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	A	6.193	0.403739	0.11754	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.63913	0.9;-0.07;0.9	5.52	1.45	0.22620	.	1.492820	0.03356	N	0.196820	T	0.55289	0.1911	L	0.57536	1.79	0.22975	N	0.998485	B;B	0.32829	0.386;0.139	B;B	0.31101	0.124;0.04	T	0.29518	-1.0009	10	0.23891	T	0.37	-0.1985	4.5961	0.12330	0.6203:0.0:0.0853:0.2944	.	42;42	E5RFE4;Q56NI9	.;ESCO2_HUMAN	T	42	ENSP00000428435:K42T;ENSP00000306999:K42T;ENSP00000428027:K42T	ENSP00000306999:K42T	K	+	2	0	ESCO2	27689869	0.020000	0.18652	0.424000	0.26647	0.510000	0.34073	0.211000	0.17474	0.431000	0.26258	0.482000	0.46254	AAA	ESCO2	-	NULL		0.328	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	A	NM_001017420		27633950	1	no_errors	ENST00000305188	ensembl	human	known	70_37	missense	SNP	0.344	C	C	27633950	A	C	27633950	3	2	131	1	0	0	0	0	1	0	0	0	5261	14	1	5	131	5	ESCO2	8	27633950	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1416254	27633950	118730072	951	21091										
DUSP4	1846	genome.wustl.edu	37	chr8	29194615	29194615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggggccgagtgcacgcccacGgagaccggaaagctgaagac	16	12	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:29194615G>A	ENST00000240100.2	-	4	1502	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	DUSP4_ENST00000240101.2_Silent_p.S280S	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	371	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCACGCCCACGGAGACCGGAA	0.706																																																	0													13	18	17					8																	29194615		2194	4288	6482	SO:0001819	synonymous_variant	1846			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.1113C>T	8.37:g.29194615G>A			B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S371	ENST00000240100.2	37	c.1113	CCDS6072.1	8																																																																																			DUSP4	-	pirsf_MKP		0.706	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP4	HGNC	protein_coding	OTTHUMT00000257249.1	G	NM_001394		29194615	-1	no_errors	ENST00000240100	ensembl	human	known	70_37	silent	SNP	0.107	A	A	29194615	G	A	29194615	2	1	131	1	0	0	0	0	0	0	0	1	4837	1103	39	2		2	DUSP4	8	29194615	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1560665	29194615	117169407	952	21092										
LEPROTL1	23484	genome.wustl.edu	37	chr8	29961916	29961916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atacagatgctatgagtaacGcttgtaaggaacttgccatc	9	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:29961916G>A	ENST00000321250.8	+	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	LEPROTL1_ENST00000518192.1_Missense_Mutation_p.A88T|LEPROTL1_ENST00000523116.1_Missense_Mutation_p.A65T|LEPROTL1_ENST00000442880.2_Missense_Mutation_p.A65T|LEPROTL1_ENST00000518001.1_Missense_Mutation_p.A4T	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	65						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TATGAGTAACGCTTGTAAGGA	0.398																																																	0													203	183	190					8																	29961916		2203	4300	6503	SO:0001583	missense	23484			AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.193G>A	8.37:g.29961916G>A	ENSP00000314625:p.Ala65Thr		E9PHP8|Q9BW48	Missense_Mutation	SNP	pfam_VPS55	p.A65T	ENST00000321250.8	37	c.193	CCDS6075.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803395	0.90623	.	.	ENSG00000104660	ENST00000321250;ENST00000518001;ENST00000520682;ENST00000442880;ENST00000523116;ENST00000518192	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.46567	1.45	0.80722	D	1	D;P	0.71674	0.998;0.53	P;B	0.57425	0.82;0.177	T	0.68792	-0.5315	9	0.87932	D	0	.	17.7642	0.88473	0.0:0.0:1.0:0.0	.	65;65	E9PHP8;O95214	.;LERL1_HUMAN	T	65;4;65;65;65;88	.	ENSP00000314625:A65T	A	+	1	0	LEPROTL1	30081458	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	9.384000	0.97219	2.793000	0.96121	0.591000	0.81541	GCT	LEPROTL1	-	pfam_VPS55		0.398	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPROTL1	HGNC	protein_coding	OTTHUMT00000375771.2	G			29961916	1	no_errors	ENST00000523116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29961916	G	A	29961916	3	1	131	1	0	0	0	0	1	0	0	0	8753	1087	38	2	203	2	LEPROTL1	8	29961916	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	767301	29961916	116402106	953	21093										
DCTN6	10671	genome.wustl.edu	37	chr8	30038070	30038070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcttgttgcaacctaaataCatttgaagtcatccctgaga	8	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30038070C>T	ENST00000221114.3	+	6	485	c.398C>T	c.(397-399)aCa>aTa	p.T133I	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Missense_Mutation_p.T133I	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AACCTAAATACATTTGAAGTC	0.433																																																	0													156	128	137					8																	30038070		2203	4300	6503	SO:0001583	missense	10671			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.398C>T	8.37:g.30038070C>T	ENSP00000221114:p.Thr133Ile		B2RAC1	Missense_Mutation	SNP	superfamily_Trimer_LpxA-like	p.T133I	ENST00000221114.3	37	c.398	CCDS6076.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467081	0.84533	.	.	ENSG00000104671	ENST00000221114;ENST00000520829	.	.	.	5.33	5.33	0.75918	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.71581	2.175	0.80722	D	1	P	0.38395	0.629	B	0.43575	0.424	T	0.69277	-0.5187	9	0.44086	T	0.13	-14.044	16.5114	0.84286	0.0:1.0:0.0:0.0	.	133	O00399	DCTN6_HUMAN	I	133	.	ENSP00000221114:T133I	T	+	2	0	DCTN6	30157612	1.000000	0.71417	0.615000	0.29064	0.978000	0.69477	6.844000	0.75390	2.490000	0.84030	0.467000	0.42956	ACA	DCTN6	-	superfamily_Trimer_LpxA-like		0.433	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN6	HGNC	protein_coding	OTTHUMT00000375815.2	C	NM_006571		30038070	1	no_errors	ENST00000221114	ensembl	human	known	70_37	missense	SNP	0.998	T	T	30038070	C	T	30038070	3	4	131	1	0	0	0	0	1	0	0	0	4316	478	17	4	420	4	DCTN6	8	30038070	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	76154	30038070	116325952	954	21094										
TEX15	56154	genome.wustl.edu	37	chr8	30700091	30700091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagcatatgagcaattaacaGcttcattatatttgcagata	6	6	1	2	rs138595877	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30700091G>T	ENST00000256246.2	-	1	6517	c.6443C>A	c.(6442-6444)gCt>gAt	p.A2148D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2148					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCAATTAACAGCTTCATTATA	0.328																																																	0													56	57	57					8																	30700091		2202	4298	6500	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6443C>A	8.37:g.30700091G>T	ENSP00000256246:p.Ala2148Asp			Missense_Mutation	SNP	NULL	p.A2148D	ENST00000256246.2	37	c.6443	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020646	0.19433	.	.	ENSG00000133863	ENST00000256246	T	0.18016	2.24	5.56	3.66	0.41972	.	0.000000	0.56097	D	0.000025	T	0.31040	0.0784	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.64410	0.925	T	0.04065	-1.0980	10	0.87932	D	0	.	7.5176	0.27610	0.0783:0.1272:0.677:0.1175	.	2148	Q9BXT5	TEX15_HUMAN	D	2148	ENSP00000256246:A2148D	ENSP00000256246:A2148D	A	-	2	0	TEX15	30819633	0.411000	0.25384	0.993000	0.49108	0.151000	0.21798	1.254000	0.32897	1.346000	0.45694	0.591000	0.81541	GCT	TEX15	-	NULL		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30700091	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.013	T	T	30700091	G	T	30700091	3	4	131	1	0	0	0	0	1	0	0	0	15809	971	34	4	1942	4	TEX15	8	30700091	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	662021	30700091	115663931	955	21095										
TEX15	56154	genome.wustl.edu	37	chr8	30702941	30702941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttttcatatttactagtgCtagataaaaatgctgtatca	6	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30702941C>T	ENST00000256246.2	-	1	3667	c.3593G>A	c.(3592-3594)aGc>aAc	p.S1198N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1198					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTACTAGTGCTAGATAAAAA	0.313																																																	0													31	31	31					8																	30702941		2202	4295	6497	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3593G>A	8.37:g.30702941C>T	ENSP00000256246:p.Ser1198Asn			Missense_Mutation	SNP	NULL	p.S1198N	ENST00000256246.2	37	c.3593	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.423421	0.00186	.	.	ENSG00000133863	ENST00000256246	T	0.09538	2.97	5.53	1.88	0.25563	.	0.707186	0.13102	N	0.413717	T	0.03739	0.0106	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.87932	D	0	.	7.1221	0.25450	0.0:0.2721:0.0:0.7279	.	1198	Q9BXT5	TEX15_HUMAN	N	1198	ENSP00000256246:S1198N	ENSP00000256246:S1198N	S	-	2	0	TEX15	30822483	0.646000	0.27295	0.049000	0.19019	0.078000	0.17371	0.732000	0.26072	0.143000	0.18926	-0.471000	0.05019	AGC	TEX15	-	NULL		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30702941	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.046	T	T	30702941	C	T	30702941	3	4	131	1	0	0	0	0	1	0	0	0	15809	797	28	4	4792	4	TEX15	8	30702941	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2850	30702941	115661081	956	21096										
TEX15	56154	genome.wustl.edu	37	chr8	30704759	30704759	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaggctacacacactgaaGaacttgcagttttgggaaat	10	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30704759G>T	ENST00000256246.2	-	1	1849	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	592					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACACACTGAAGAACTTGCAGT	0.393																																																	0													127	120	123					8																	30704759		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1775C>A	8.37:g.30704759G>T	ENSP00000256246:p.Ser592Tyr			Missense_Mutation	SNP	NULL	p.S592Y	ENST00000256246.2	37	c.1775	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673677	0.47781	.	.	ENSG00000133863	ENST00000256246	T	0.15603	2.41	5.47	5.47	0.80525	.	0.353988	0.24889	N	0.034797	T	0.31734	0.0806	L	0.34521	1.04	0.36655	D	0.87763	D	0.89917	1.0	D	0.76071	0.987	T	0.14896	-1.0456	10	0.87932	D	0	.	15.1862	0.73002	0.0:0.0:1.0:0.0	.	592	Q9BXT5	TEX15_HUMAN	Y	592	ENSP00000256246:S592Y	ENSP00000256246:S592Y	S	-	2	0	TEX15	30824301	0.510000	0.26171	0.952000	0.39060	0.046000	0.14306	1.460000	0.35244	2.721000	0.93114	0.655000	0.94253	TCT	TEX15	-	NULL		0.393	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30704759	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.994	T	T	30704759	G	T	30704759	3	4	131	1	0	0	0	0	1	0	0	0	15809	942	33	3	6610	3	TEX15	8	30704759	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1818	30704759	115659263	957	21097										
TEX15	56154	genome.wustl.edu	37	chr8	30704948	30704948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaattcttcagaactcaaaAtttctatattgtggtaattt	4	5	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30704948A>C	ENST00000256246.2	-	1	1660	c.1586T>G	c.(1585-1587)aTt>aGt	p.I529S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	529					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAACTCAAAATTTCTATATT	0.318																																																	0													59	60	60					8																	30704948		2199	4292	6491	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1586T>G	8.37:g.30704948A>C	ENSP00000256246:p.Ile529Ser			Missense_Mutation	SNP	NULL	p.I529S	ENST00000256246.2	37	c.1586	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081827	0.36758	.	.	ENSG00000133863	ENST00000256246	T	0.15017	2.46	5.49	0.183	0.15082	.	0.899043	0.09458	N	0.799417	T	0.12433	0.0302	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.34030	-0.9845	10	0.87932	D	0	.	5.0623	0.14564	0.6198:0.1443:0.2359:0.0	.	529	Q9BXT5	TEX15_HUMAN	S	529	ENSP00000256246:I529S	ENSP00000256246:I529S	I	-	2	0	TEX15	30824490	0.782000	0.28689	0.024000	0.17045	0.479000	0.33129	1.116000	0.31221	-0.113000	0.11958	0.528000	0.53228	ATT	TEX15	-	NULL		0.318	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	A			30704948	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.013	C	C	30704948	A	C	30704948	3	2	131	1	0	0	0	0	1	0	0	0	15809	101	4	5	6799	5	TEX15	8	30704948	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	189	30704948	115659074	958	21098										
TEX15	56154	genome.wustl.edu	37	chr8	30705207	30705207	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcttcaacataagcagtttCtttatagtctctctgaatgt	5	8	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30705207C>A	ENST00000256246.2	-	1	1401	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	443					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAGCAGTTTCTTTATAGTCT	0.333																																																	0													161	160	160					8																	30705207		2203	4300	6503	SO:0001587	stop_gained	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1327G>T	8.37:g.30705207C>A	ENSP00000256246:p.Glu443*			Nonsense_Mutation	SNP	NULL	p.E443*	ENST00000256246.2	37	c.1327	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999291	0.93227	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.61	3.4	0.38934	.	0.839780	0.10404	N	0.678754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.0136	0.14324	0.0:0.6223:0.2402:0.1374	.	.	.	.	X	443	.	ENSP00000256246:E443X	E	-	1	0	TEX15	30824749	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	0.432000	0.21461	1.476000	0.48215	0.650000	0.86243	GAA	TEX15	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30705207	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	30705207	C	A	30705207	4	1	131	1	0	0	0	0	0	1	0	0	15809	922	32	3	7058	3	TEX15	8	30705207	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	259	30705207	115658815	959	21099										
TACC1	6867	genome.wustl.edu	37	chr8	38684717	38684717	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtgatctcccagatttcagAcatttctaatagggatggcc	9	9	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:38684717A>C	ENST00000317827.4	+	5	1863	c.1484A>C	c.(1483-1485)gAc>gCc	p.D495A	TACC1_ENST00000519416.1_Missense_Mutation_p.D299A|TACC1_ENST00000348567.4_Missense_Mutation_p.D57A|TACC1_ENST00000520973.1_Missense_Mutation_p.D300A|TACC1_ENST00000443286.2_Missense_Mutation_p.D511A|TACC1_ENST00000276520.8_Missense_Mutation_p.D85A|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.D459A|TACC1_ENST00000379931.3_Missense_Mutation_p.D507A|TACC1_ENST00000520615.1_Missense_Mutation_p.D300A|TACC1_ENST00000330691.6_Missense_Mutation_p.D69A|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.D450A	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	495	SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGATTTCAGACATTTCTAAT	0.498																																																	0													145	122	130					8																	38684717		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1484A>C	8.37:g.38684717A>C	ENSP00000321703:p.Asp495Ala		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.D507A	ENST00000317827.4	37	c.1520	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.27|13.27	2.186923|2.186923	0.38609|0.38609	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000521642;ENST00000521050;ENST00000522904;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T;T;T;T|.	0.47177|.	2.87;2.88;3.03;3.03;2.86;0.89;0.86;3.05;3.05;0.85;2.87|.	5.53|5.53	4.38|4.38	0.52667|0.52667	.|.	0.178711|.	0.48767|.	D|.	0.000170|.	T|T	0.46073|0.46073	0.1374|0.1374	M|M	0.67953|0.67953	2.075|2.075	0.24394|0.24394	N|N	0.994736|0.994736	P;B;B;B;B;B;B;B;B;B;B|.	0.38473|.	0.633;0.074;0.074;0.038;0.227;0.232;0.002;0.008;0.002;0.058;0.197|.	B;B;B;B;B;B;B;B;B;B;B|.	0.43360|.	0.417;0.031;0.021;0.01;0.114;0.043;0.006;0.005;0.004;0.012;0.046|.	T|T	0.41805|0.41805	-0.9488|-0.9488	10|5	0.56958|.	D|.	0.05|.	-3.7009|-3.7009	5.7861|5.7861	0.18334|0.18334	0.7082:0.1425:0.1493:0.0|0.7082:0.1425:0.1493:0.0	.|.	300;300;300;511;507;495;57;85;69;299;450|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;O75410-4;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.;.;.;.|.	A|P	299;300;300;511;450;57;69;467;69;57;495;507;85;300|282;145	ENSP00000428687:D299A;ENSP00000428450:D300A;ENSP00000393647:D511A;ENSP00000428706:D450A;ENSP00000430355:D467A;ENSP00000332794:D69A;ENSP00000327818:D57A;ENSP00000321703:D495A;ENSP00000369263:D507A;ENSP00000276520:D85A;ENSP00000430959:D300A|.	ENSP00000276520:D85A|.	D|T	+|+	2|1	0|0	TACC1|TACC1	38803874|38803874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.310000|3.310000	0.51911|0.51911	1.032000|1.032000	0.39892|0.39892	0.533000|0.533000	0.62120|0.62120	GAC|ACA	TACC1	-	NULL		0.498	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	A	NM_006283		38684717	1	no_errors	ENST00000379931	ensembl	human	known	70_37	missense	SNP	0.997	C	C	38684717	A	C	38684717	3	2	131	1	0	0	0	0	1	0	0	0	15531	275	10	5	1502	5	TACC1	8	38684717	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	7979510	38684717	107679305	960	21100										
ADAM32	203102	genome.wustl.edu	37	chr8	39007329	39007329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactcaatgctactatcaagGaaatattgaaggatatccag	8	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:39007329G>A	ENST00000379907.4	+	5	423	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ADAM32_ENST00000437682.2_Missense_Mutation_p.G106E|ADAM32_ENST00000519315.1_Missense_Mutation_p.G99E	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	99						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TACTATCAAGGAAATATTGAA	0.348																																																	0													125	116	119					8																	39007329		1878	4109	5987	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.296G>A	8.37:g.39007329G>A	ENSP00000369238:p.Gly99Glu		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G99E	ENST00000379907.4	37	c.296	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953796	0.73902	.	.	ENSG00000197140	ENST00000523400;ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000521741;ENST00000399826	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.16	5.16	0.70880	Peptidase M12B, propeptide (1);	0.000000	0.32703	N	0.005759	T	0.79353	0.4431	H	0.97315	3.98	0.38385	D	0.94523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87360	0.2343	10	0.87932	D	0	.	14.4877	0.67629	0.0:0.0:1.0:0.0	.	106;99;99	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	E	130;99;106;99;99;99;25;100	ENSP00000427735:G130E;ENSP00000382727:G99E;ENSP00000405978:G106E;ENSP00000429422:G99E;ENSP00000369238:G99E;ENSP00000429066:G99E;ENSP00000431050:G25E	ENSP00000369238:G99E	G	+	2	0	ADAM32	39126486	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.672000	0.61597	2.577000	0.86979	0.655000	0.94253	GGA	ADAM32	-	pfam_Peptidase_M12B_N		0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	G	NM_145004		39007329	1	no_errors	ENST00000379907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39007329	G	A	39007329	3	1	131	1	0	0	0	0	1	0	0	0	249	1174	41	1	314	1	ADAM32	8	39007329	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	322612	39007329	107356693	961	21101										
ADAM2	2515	genome.wustl.edu	37	chr8	39613390	39613390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaatttgtaataaaaattTacctacatatttacatatta	3	4	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:39613390T>G	ENST00000265708.4	-	16	1757	c.1654A>C	c.(1654-1656)Aaa>Caa	p.K552Q	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.K533Q|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	552	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATAAAAATTTACCTACATAT	0.299																																																	0													59	63	62					8																	39613390		2202	4298	6500	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1654A>C	8.37:g.39613390T>G	ENSP00000265708:p.Lys552Gln		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K552Q	ENST00000265708.4	37	c.1654	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	T	4.000	-0.002684	0.07819	.	.	ENSG00000104755	ENST00000347580;ENST00000265708	T;T	0.22743	1.94;1.94	4.57	-9.14	0.00701	ADAM, cysteine-rich (2);	.	.	.	.	T	0.12817	0.0311	N	0.25245	0.725	0.09310	N	1	B;B	0.15719	0.012;0.014	B;B	0.25506	0.061;0.043	T	0.39354	-0.9618	8	.	.	.	.	14.9828	0.71324	0.0855:0.0967:0.0:0.8178	.	533;552	Q99965-2;Q99965	.;ADAM2_HUMAN	Q	533;552	ENSP00000343854:K533Q;ENSP00000265708:K552Q	.	K	-	1	0	ADAM2	39732547	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.275000	0.00530	-3.554000	0.00142	-2.021000	0.00431	AAA	ADAM2	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.299	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	T	NM_001464		39613390	-1	no_errors	ENST00000265708	ensembl	human	known	70_37	missense	SNP	0.000	G	G	39613390	T	G	39613390	3	3	131	1	0	0	0	0	1	0	0	0	241	1763	61	5	573	5	ADAM2	8	39613390	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	606061	39613390	106750632	962	21102										
RB1CC1	9821	genome.wustl.edu	37	chr8	53573785	53573785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctctattacgaggcggagcAaagcttgtaacttctctcca	9	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:53573785A>C	ENST00000025008.5	-	10	1938	c.1415T>G	c.(1414-1416)tTg>tGg	p.L472W	RB1CC1_ENST00000435644.2_Missense_Mutation_p.L472W|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L472W|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	472					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAGGCGGAGCAAAGCTTGTAA	0.383																																					GBM(180;1701 2102 13475 42023 52570)												0													90	84	86					8																	53573785		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1415T>G	8.37:g.53573785A>C	ENSP00000025008:p.Leu472Trp		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.L472W	ENST00000025008.5	37	c.1415	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384640	0.61845	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.17854	2.25;2.25;2.25	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	T	0.40119	0.1104	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.15178	-1.0446	10	0.54805	T	0.06	-8.0258	15.6626	0.77199	1.0:0.0:0.0:0.0	.	472;472	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	W	472	ENSP00000025008:L472W;ENSP00000396067:L472W;ENSP00000445960:L472W	ENSP00000025008:L472W	L	-	2	0	RB1CC1	53736338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.257000	0.95545	2.161000	0.67846	0.528000	0.53228	TTG	RB1CC1	-	NULL		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	A	NM_014781		53573785	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53573785	A	C	53573785	3	2	131	1	0	0	0	0	1	0	0	0	13129	131	5	5	3429	5	RB1CC1	8	53573785	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	13960395	53573785	92790237	963	21103										
SDR16C5	195814	genome.wustl.edu	37	chr8	57218217	57218217	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagtacattttttcttgtaGaatagcttctactatttttt	4	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:57218217G>T	ENST00000303749.3	-	6	1412	c.775C>A	c.(775-777)Cta>Ata	p.L259I	SDR16C5_ENST00000522671.1_Missense_Mutation_p.L259I|SDR16C5_ENST00000396721.2_Missense_Mutation_p.L215I	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	259					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTTCTTGTAGAATAGCTTCT	0.318																																																	0													85	87	86					8																	57218217		2203	4296	6499	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.775C>A	8.37:g.57218217G>T	ENSP00000307607:p.Leu259Ile		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L259I	ENST00000303749.3	37	c.775	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952673	0.53293	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	D;D;T	0.89810	-2.57;-2.57;0.66	5.63	3.85	0.44370	NAD(P)-binding domain (1);	0.222839	0.38897	N	0.001529	D	0.93969	0.8069	M	0.87328	2.875	0.53688	D	0.999978	P;D;D	0.63880	0.523;0.993;0.992	B;D;D	0.65573	0.281;0.936;0.911	D	0.93293	0.6670	10	0.51188	T	0.08	.	11.6923	0.51523	0.1436:0.0:0.8564:0.0	.	215;259;259	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	I	215;259;259	ENSP00000379947:L215I;ENSP00000307607:L259I;ENSP00000431010:L259I	ENSP00000307607:L259I	L	-	1	2	SDR16C5	57380771	1.000000	0.71417	0.942000	0.38095	0.125000	0.20455	5.115000	0.64655	0.753000	0.32945	0.655000	0.94253	CTA	SDR16C5	-	NULL		0.318	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	G	NM_138969		57218217	-1	no_errors	ENST00000303749	ensembl	human	known	70_37	missense	SNP	0.992	T	T	57218217	G	T	57218217	3	4	131	1	0	0	0	0	1	0	0	0	14001	933	33	3	162	3	SDR16C5	8	57218217	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3644432	57218217	89145805	964	21104										
ASPH	444	genome.wustl.edu	37	chr8	62546284	62546284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccacaggaaaaatgcttaCttctaaaataaataataaag	4	6	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:62546284C>A	ENST00000379454.4	-	13	1079	c.892G>T	c.(892-894)Gta>Tta	p.V298L	ASPH_ENST00000517903.1_Missense_Mutation_p.V283L|ASPH_ENST00000356457.5_Missense_Mutation_p.V298L|ASPH_ENST00000517847.2_Missense_Mutation_p.V284L|ASPH_ENST00000445642.3_Missense_Mutation_p.V284L|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000518068.1_Missense_Mutation_p.V255L|ASPH_ENST00000541428.1_Missense_Mutation_p.V269L|RN7SKP97_ENST00000410966.1_RNA|ASPH_ENST00000522835.1_Missense_Mutation_p.V241L|ASPH_ENST00000522919.1_Missense_Mutation_p.V111L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	298	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAAATGCTTACTTCTAAAATA	0.294																																																	0													46	50	48					8																	62546284		2201	4291	6492	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.892G>T	8.37:g.62546284C>A	ENSP00000368767:p.Val298Leu		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V298L	ENST00000379454.4	37	c.892	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420089	0.42918	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.21	0.0451	0.14228	Aspartyl beta-hydroxylase/Triadin domain (1);	1.196350	0.06046	N	0.655820	T	0.37679	0.1012	L	0.29908	0.895	0.09310	N	1	B;P;P;P;B;B;P;B;P;B	0.50369	0.37;0.888;0.67;0.67;0.021;0.017;0.934;0.002;0.813;0.27	B;P;B;P;B;B;P;B;P;B	0.46825	0.073;0.528;0.411;0.447;0.024;0.012;0.528;0.003;0.528;0.034	T	0.20472	-1.0274	10	0.56958	D	0.05	-1.6033	1.8829	0.03231	0.1407:0.4774:0.1368:0.2452	.	279;241;283;264;269;279;255;298;284;298	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	L	279;269;298;111;298;312;255;283;284;284;241	ENSP00000437864:V269L;ENSP00000368767:V298L;ENSP00000430516:V111L;ENSP00000348841:V298L;ENSP00000427823:V312L;ENSP00000429286:V255L;ENSP00000430245:V283L;ENSP00000394013:V284L;ENSP00000429954:V284L;ENSP00000429160:V241L	ENSP00000348841:V298L	V	-	1	0	ASPH	62708838	0.006000	0.16342	0.003000	0.11579	0.024000	0.10985	-0.150000	0.10189	-0.220000	0.09988	0.563000	0.77884	GTA	ASPH	-	pfam_Asp-B-hydro/Triadin_dom		0.294	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62546284	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	0.036	A	A	62546284	C	A	62546284	3	1	131	1	0	0	0	0	1	0	0	0	1054	565	20	4	1448	4	ASPH	8	62546284	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5328067	62546284	83817738	965	21105										
CSPP1	79848	genome.wustl.edu	37	chr8	68007717	68007717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacaactagatgatgaaatcGaattaaggaatagaagaatt	9	3	0	5	rs201451280		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:68007717G>A	ENST00000262210.5	+	6	731	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	269					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E234K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGATGAAATCGAATTAAGGAA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU	3,3643		0,3,1820	94	85	88		700	5.9	1	8		88	1,8163		0,1,4081	yes	missense	CSPP1	NM_024790.6	56	0,4,5901	AA,AG,GG		0.0122,0.0823,0.0339	probably-damaging	234/1222	68007717	4,11806	1823	4082	5905	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.700G>A	8.37:g.68007717G>A	ENSP00000262210:p.Glu234Lys		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.E234K	ENST00000262210.5	37	c.700	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287331	0.80803	8.23E-4	1.22E-4	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.75938	-0.98	5.95	5.95	0.96441	.	0.249218	0.18598	U	0.136540	D	0.84844	0.5562	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.927;0.992;0.992	D	0.83615	0.0136	10	0.48119	T	0.1	-16.5399	15.8179	0.78618	0.0:0.1352:0.8648:0.0	.	234;269;269	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	K	234;269	ENSP00000262210:E234K	ENSP00000262210:E234K	E	+	1	0	CSPP1	68170271	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.639000	0.61361	2.821000	0.97095	0.650000	0.86243	GAA	CSPP1	-	NULL		0.383	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	G	NM_024790		68007717	1	no_errors	ENST00000262210	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68007717	G	A	68007717	3	1	131	1	0	0	0	0	1	0	0	0	3967	1059	37	1	835	1	CSPP1	8	68007717	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5461433	68007717	78356305	966	21106										
C8orf34	116328	genome.wustl.edu	37	chr8	69633640	69633640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cactaatggaggagggtgacGaatttgagaaagcatctaaa	12	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:69633640G>A	ENST00000539993.1	+	10	1663	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C8orf34_ENST00000325233.3_Missense_Mutation_p.E116K|C8orf34_ENST00000337103.4_Missense_Mutation_p.E347K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E458K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	372										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGAGGGTGACGAATTTGAGAA	0.279																																																	0													110	117	115					8																	69633640		2203	4300	6503	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1114G>A	8.37:g.69633640G>A	ENSP00000438159:p.Glu372Lys		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E458K	ENST00000539993.1	37	c.1372		8	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742072	0.49151	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.46451	0.87;0.92;0.91;0.87	5.55	4.67	0.58626	.	0.751967	0.12831	N	0.435629	T	0.31702	0.0805	L	0.34521	1.04	0.21933	N	0.999467	B	0.12630	0.006	B	0.09377	0.004	T	0.15983	-1.0418	9	.	.	.	-4.2088	10.6316	0.45541	0.0887:0.0:0.9113:0.0	.	372	Q49A92	CH034_HUMAN	K	458;372;347;116	ENSP00000427820:E458K;ENSP00000438159:E372K;ENSP00000337174:E347K;ENSP00000319532:E116K	.	E	+	1	0	C8orf34	69796194	1.000000	0.71417	0.978000	0.43139	0.317000	0.28152	2.783000	0.47766	1.500000	0.48636	-0.225000	0.12378	GAA	C8orf34	-	NULL		0.279	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		G	NM_052958		69633640	1	no_errors	ENST00000518698	ensembl	human	known	70_37	missense	SNP	0.997	A	A	69633640	G	A	69633640	3	1	131	1	0	0	0	0	1	0	0	0	2427	1059	37	1	1073	1	C8orf34	8	69633640	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1625923	69633640	76730382	967	21107										
SULF1	23213	genome.wustl.edu	37	chr8	70550804	70550804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtttgcgtacagttaatgaGacgcataattttcttttctg	8	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:70550804G>A	ENST00000260128.4	+	20	3069	c.2352G>A	c.(2350-2352)gaG>gaA	p.E784E	SULF1_ENST00000458141.2_Silent_p.E784E|SULF1_ENST00000402687.4_Silent_p.E784E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.E784E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	784					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGTTAATGAGACGCATAATT	0.343																																																	0													149	139	143					8																	70550804		2203	4300	6503	SO:0001819	synonymous_variant	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2352G>A	8.37:g.70550804G>A			Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.E784	ENST00000260128.4	37	c.2352	CCDS6204.1	8																																																																																			SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.343	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	G	NM_015170		70550804	1	no_errors	ENST00000260128	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70550804	G	A	70550804	2	1	131	1	0	0	0	0	0	0	0	1	15400	933	33	1		1	SULF1	8	70550804	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	917164	70550804	75813218	968	21108										
SLCO5A1	81796	genome.wustl.edu	37	chr8	70617305	70617305	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatgccccctagattaatgCtttcacatccaacaataaat	3	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:70617305C>G	ENST00000260126.4	-	6	2289	c.1583G>C	c.(1582-1584)aGc>aCc	p.S528T	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S528T|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S473T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	528						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAGATTAATGCTTTCACATCC	0.428																																																	0													131	121	125					8																	70617305		2203	4300	6503	SO:0001583	missense	81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1583G>C	8.37:g.70617305C>G	ENSP00000260126:p.Ser528Thr		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S528T	ENST00000260126.4	37	c.1583	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546371	0.86022	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.39056	1.1;1.1;1.1	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.10664	0.02	0.58432	D	0.999999	P;P;P;P	0.48162	0.906;0.509;0.56;0.708	P;P;B;B	0.52646	0.705;0.451;0.277;0.332	T	0.17684	-1.0361	10	0.21014	T	0.42	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	473;473;528;528	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	T	528;528;473	ENSP00000260126:S528T;ENSP00000434422:S528T;ENSP00000431611:S473T	ENSP00000260126:S528T	S	-	2	0	SLCO5A1	70779859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.768000	0.95171	0.655000	0.94253	AGC	SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.428	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	C	NM_030958		70617305	-1	no_errors	ENST00000260126	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70617305	C	G	70617305	3	3	131	1	0	0	0	0	1	0	0	0	14761	797	28	4	983	4	SLCO5A1	8	70617305	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	66501	70617305	75746717	969	21109										
XKR9	389668	genome.wustl.edu	37	chr8	71646621	71646621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaattgatggaaaaccagttCtaagagaatgtagaatgaga	10	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:71646621C>A	ENST00000408926.3	+	5	1618	c.1084C>A	c.(1084-1086)Cta>Ata	p.L362I	XKR9_ENST00000520030.1_Missense_Mutation_p.L362I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	362						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AAAACCAGTTCTAAGAGAATG	0.279																																																	0													38	40	39					8																	71646621		2191	4293	6484	SO:0001583	missense	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.1084C>A	8.37:g.71646621C>A	ENSP00000386141:p.Leu362Ile		B2RNS9|B9EH74	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.L362I	ENST00000408926.3	37	c.1084	CCDS34905.1	8	.	.	.	.	.	.	.	.	.	.	C	2.237	-0.374706	0.05034	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	.	.	.	4.98	-0.217	0.13149	.	0.980746	0.08355	N	0.958613	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.30119	-0.9989	9	0.16420	T	0.52	0.3711	4.5638	0.12173	0.3175:0.2033:0.4073:0.0719	.	362	Q5GH70	XKR9_HUMAN	I	362	.	ENSP00000386141:L362I	L	+	1	2	XKR9	71809175	0.010000	0.17322	0.104000	0.21259	0.149000	0.21700	-0.033000	0.12246	-0.229000	0.09854	-0.321000	0.08615	CTA	XKR9	-	NULL		0.279	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	C	NM_001011720		71646621	1	no_errors	ENST00000408926	ensembl	human	known	70_37	missense	SNP	0.000	A	A	71646621	C	A	71646621	3	1	131	1	0	0	0	0	1	0	0	0	17469	912	32	3	1094	3	XKR9	8	71646621	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1029316	71646621	74717401	970	21110										
EYA1	2138	genome.wustl.edu	37	chr8	72123465	72123465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttcttccaaacctttgaaTtattctctcaaaacagcttt	2	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:72123465T>G	ENST00000340726.3	-	17	2263	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L	EYA1_ENST00000388741.2_Missense_Mutation_p.I508L|EYA1_ENST00000388743.2_Missense_Mutation_p.I541L|EYA1_ENST00000419131.1_Missense_Mutation_p.I507L|EYA1_ENST00000303824.7_Missense_Mutation_p.I536L|EYA1_ENST00000388740.3_Missense_Mutation_p.I509L|EYA1_ENST00000388742.4_Missense_Mutation_p.I542L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	542					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AACCTTTGAATTATTCTCTCA	0.343																																																	0													187	166	173					8																	72123465		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1624A>C	8.37:g.72123465T>G	ENSP00000342626:p.Ile542Leu		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.I542L	ENST00000340726.3	37	c.1624	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646169	0.67358	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.113679	0.64402	D	0.000004	D	0.88698	0.6507	N	0.16743	0.435	0.80722	D	1	B;B;B;P;B	0.45428	0.114;0.006;0.006;0.858;0.013	B;B;B;P;B	0.60012	0.063;0.016;0.016;0.867;0.016	D	0.88136	0.2841	10	0.32370	T	0.25	-14.9112	15.904	0.79406	0.0:0.0:0.0:1.0	.	536;469;509;542;507	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	L	542;542;510;509;536;508;541;507	ENSP00000373394:I542L;ENSP00000342626:I542L;ENSP00000373392:I509L;ENSP00000303221:I536L;ENSP00000373393:I508L;ENSP00000373395:I541L;ENSP00000410176:I507L	ENSP00000303221:I536L	I	-	1	0	EYA1	72286019	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.229000	0.72294	2.165000	0.68154	0.459000	0.35465	ATT	EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA		0.343	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	T	NM_000503, NM_172060		72123465	-1	no_errors	ENST00000340726	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72123465	T	G	72123465	3	3	131	1	0	0	0	0	1	0	0	0	5340	1493	52	5	162	5	EYA1	8	72123465	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	476844	72123465	74240557	971	21111										
STAU2	27067	genome.wustl.edu	37	chr8	74464260	74464260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcatacctgaaagccttgaAtccttgctaaatattccagt	5	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:74464260A>G	ENST00000521451.1	-	8	1233	c.857T>C	c.(856-858)aTt>aCt	p.I286T	STAU2_ENST00000355780.5_Missense_Mutation_p.I474T|STAU2_ENST00000519961.1_Missense_Mutation_p.I506T|STAU2_ENST00000521727.1_Missense_Mutation_p.I486T|STAU2_ENST00000524300.1_Missense_Mutation_p.I506T|STAU2_ENST00000522509.1_Missense_Mutation_p.I474T|STAU2_ENST00000522695.1_Missense_Mutation_p.I474T|STAU2_ENST00000521210.1_Missense_Mutation_p.I402T|STAU2_ENST00000517542.1_Missense_Mutation_p.I468T|STAU2_ENST00000523558.1_Missense_Mutation_p.I334T			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	506					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AAAGCCTTGAATCCTTGCTAA	0.373																																																	0													49	53	52					8																	74464260		2202	4298	6500	SO:0001583	missense	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.857T>C	8.37:g.74464260A>G	ENSP00000428476:p.Ile286Thr		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.I506T	ENST00000521451.1	37	c.1517		8	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296691	0.60086	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000523533;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.997;1.0;0.999;0.981;0.981;0.972	D;D;D;D;D;D;D;P	0.83275	0.987;0.996;0.994;0.996;0.994;0.95;0.966;0.715	T	0.73206	-0.4056	10	0.87932	D	0	-14.7512	14.4487	0.67370	1.0:0.0:0.0:0.0	.	486;402;334;402;474;506;474;506	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	T	474;506;334;402;119;474;506;486;286;474;468	ENSP00000428456:I474T;ENSP00000428756:I506T;ENSP00000428741:I334T;ENSP00000429173:I402T;ENSP00000430511:I119T;ENSP00000348026:I474T;ENSP00000430907:I506T;ENSP00000429973:I486T;ENSP00000428476:I286T;ENSP00000427977:I474T;ENSP00000431111:I468T	ENSP00000344030:I334T	I	-	2	0	STAU2	74626814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.226000	0.89785	2.054000	0.61138	0.528000	0.53228	ATT	STAU2	-	NULL		0.373	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379006.4	A	NM_001164380		74464260	-1	no_errors	ENST00000524300	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74464260	A	G	74464260	3	3	131	1	0	0	0	0	1	0	0	0	15303	101	4	5	331	5	STAU2	8	74464260	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2340795	74464260	71899762	972	21112										
SLC10A5	347051	genome.wustl.edu	37	chr8	82606649	82606650	+	Frame_Shift_Ins	INS	-	-	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacccgcaaaatggcatcagINSaaaaaactgtgtaactgccc							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:82606649_82606650insA	ENST00000518568.1	-	1	1759_1760	c.558_559insT	c.(556-561)tttctgfs	p.L187fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	187						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AATGGCATCAGAAAAAACTGTG	0.45																																																	0																																										SO:0001589	frameshift_variant	347051				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.559dupT	8.37:g.82606655_82606655dupA	ENSP00000428612:p.Leu187fs		B2RN26	Frame_Shift_Ins	INS	pfam_BilAc/Na_symport	p.L186fs	ENST00000518568.1	37	c.559_558	CCDS34915.1	8																																																																																			SLC10A5	-	pfam_BilAc/Na_symport		0.45	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	-	XM_294493		82606650	-1	no_errors	ENST00000518568	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	82606650	-	A	82606649	7	5	131	1	0	1	1	0	0	0	0	0	14407	933	33	0	759	0	SLC10A5	8	82606649	Frame_Shift_Ins	INS	-	TCGA-FU-A3HZ-01A-11D-A20U-09	8142389	82606649	63757373	973	21113										
MMP16	4325	genome.wustl.edu	37	chr8	89180150	89180150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccacacatcaaaggcacggcGaatagctttacgagtctcag	9	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:89180150G>A	ENST00000286614.6	-	4	738	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	153					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AAGGCACGGCGAATAGCTTTA	0.373																																																	0													114	103	107					8																	89180150		2203	4300	6503	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.457C>T	8.37:g.89180150G>A	ENSP00000286614:p.Arg153Cys		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R153C	ENST00000286614.6	37	c.457	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751412	0.89753	.	.	ENSG00000156103	ENST00000286614	T	0.23950	1.88	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76849	-0.2807	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	153;153	P51512-2;P51512	.;MMP16_HUMAN	C	153	ENSP00000286614:R153C	ENSP00000286614:R153C	R	-	1	0	MMP16	89249266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	2.937000	0.99478	0.650000	0.86243	CGC	MMP16	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.373	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	G	NM_005941		89180150	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89180150	G	A	89180150	3	1	131	1	0	0	0	0	1	0	0	0	9678	1058	37	1	1550	1	MMP16	8	89180150	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	6573501	89180150	57183872	974	21114										
TMEM55A	55529	genome.wustl.edu	37	chr8	92008002	92008002	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagataagcaattgcccaaGaaacataggttgctcgaaat	10	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:92008002G>T	ENST00000285419.3	-	7	991	c.677C>A	c.(676-678)tCt>tAt	p.S226Y		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	226						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AATTGCCCAAGAAACATAGGT	0.368																																																	0													100	96	97					8																	92008002		2203	4300	6503	SO:0001583	missense	55529			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.677C>A	8.37:g.92008002G>T	ENSP00000285419:p.Ser226Tyr		B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.S226Y	ENST00000285419.3	37	c.677	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551696	0.65311	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.36	4.48	0.54585	.	0.102536	0.64402	D	0.000001	T	0.54967	0.1891	L	0.29908	0.895	0.80722	D	1	P	0.36789	0.57	P	0.45577	0.486	T	0.58978	-0.7540	9	0.56958	D	0.05	-16.44	14.2167	0.65797	0.0723:0.0:0.9277:0.0	.	226	Q8N4L2	TM55A_HUMAN	Y	226;232	.	ENSP00000285419:S226Y	S	-	2	0	TMEM55A	92077178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	1.394000	0.46624	0.650000	0.86243	TCT	TMEM55A	-	pfam_Transmembrane_protein_55A/B		0.368	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	G	NM_018710		92008002	-1	no_errors	ENST00000285419	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92008002	G	T	92008002	3	4	131	1	0	0	0	0	1	0	0	0	16211	942	33	3	100	3	TMEM55A	8	92008002	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2827852	92008002	54356020	975	21115										
SLC26A7	115111	genome.wustl.edu	37	chr8	92374634	92374634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctttgctgccaatgtgggActgctgtttggtgttgtttg	14	6	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:92374634A>G	ENST00000276609.3	+	12	1607	c.1368A>G	c.(1366-1368)ggA>ggG	p.G456G	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.G456G|SLC26A7_ENST00000523719.1_Silent_p.G456G	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCAATGTGGGACTGCTGTTTG	0.393																																																	0													356	300	319					8																	92374634		2203	4300	6503	SO:0001819	synonymous_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1368A>G	8.37:g.92374634A>G				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.G456	ENST00000276609.3	37	c.1368	CCDS6254.1	8																																																																																			SLC26A7	-	NULL		0.393	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	A			92374634	1	no_errors	ENST00000309536	ensembl	human	known	70_37	silent	SNP	0.999	G	G	92374634	A	G	92374634	2	3	131	1	0	0	0	0	0	0	0	1	14552	262	10	5		5	SLC26A7	8	92374634	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	366632	92374634	53989388	976	21116										
UQCRB	7381	genome.wustl.edu	37	chr8	97245436	97245436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattttcgaataccatccagCcacttgcctgatgctgaaac	6	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:97245436C>A	ENST00000287022.5	-	2	142	c.39G>T	c.(37-39)tgG>tgT	p.W13C	UQCRB_ENST00000517523.1_5'UTR|UQCRB_ENST00000523920.1_Missense_Mutation_p.W13C|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000518406.1_Missense_Mutation_p.W13C	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	13					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TACCATCCAGCCACTTGCCTG	0.358																																																	0													127	117	120					8																	97245436		2203	4300	6503	SO:0001583	missense	7381			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.39G>T	8.37:g.97245436C>A	ENSP00000287022:p.Trp13Cys		E5RJU0|Q6FGD1	Missense_Mutation	SNP	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa	p.W13C	ENST00000287022.5	37	c.39	CCDS6269.1	8	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647836	0.29336	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.42900	0.96;0.96;0.96	4.78	4.78	0.61160	.	0.157969	0.46145	D	0.000308	T	0.59169	0.2174	M	0.71206	2.165	0.49915	D	0.999832	D	0.58970	0.984	P	0.57960	0.83	T	0.62431	-0.6856	10	0.54805	T	0.06	-9.661	16.1748	0.81844	0.0:1.0:0.0:0.0	.	13	P14927	QCR7_HUMAN	C	13	ENSP00000287022:W13C;ENSP00000430494:W13C;ENSP00000430560:W13C	ENSP00000287022:W13C	W	-	3	0	UQCRB	97314612	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	2.336000	0.43938	2.509000	0.84616	0.655000	0.94253	TGG	UQCRB	-	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa		0.358	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRB	HGNC	protein_coding	OTTHUMT00000379863.1	C	NM_006294		97245436	-1	no_errors	ENST00000521036	ensembl	human	known	70_37	missense	SNP	1.000	A	A	97245436	C	A	97245436	3	1	131	1	0	0	0	0	1	0	0	0	17049	740	26	4	308	4	UQCRB	8	97245436	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4870802	97245436	49118586	977	21117										
PGCP	10404	genome.wustl.edu	37	chr8	97797327	97797327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagatcctatgagcgattgGcacttctggttgatactgtt	10	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:97797327G>A	ENST00000220763.5	+	2	412	c.202G>A	c.(202-204)Gca>Aca	p.A68T		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	68					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TGAGCGATTGGCACTTCTGGT	0.438																																																	0													122	113	116					8																	97797327		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.202G>A	8.37:g.97797327G>A	ENSP00000220763:p.Ala68Thr		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.A68T	ENST00000220763.5	37	c.202	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295086	0.60086	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.50001	0.83;0.76	5.28	4.35	0.52113	.	0.129596	0.51477	D	0.000083	T	0.45955	0.1368	L	0.51914	1.62	0.36709	D	0.880549	B;B	0.32051	0.354;0.142	B;B	0.39152	0.292;0.114	T	0.46638	-0.9177	10	0.16896	T	0.51	-11.8105	14.2835	0.66228	0.0:0.0:0.8193:0.1807	.	68;68	B5MDX4;Q9Y646	.;PGCP_HUMAN	T	68	ENSP00000220763:A68T;ENSP00000429146:A68T	ENSP00000220763:A68T	A	+	1	0	AC010859.1	97866503	1.000000	0.71417	0.999000	0.59377	0.800000	0.45204	6.028000	0.70889	1.061000	0.40601	0.563000	0.77884	GCA	CPQ	-	NULL		0.438	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	G	NM_016134		97797327	1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	1.000	A	A	97797327	G	A	97797327	3	1	131	1	0	0	0	0	1	0	0	0	11810	1203	42	4	204	4	PGCP	8	97797327	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	551891	97797327	48566695	978	21118										
VPS13B	157680	genome.wustl.edu	37	chr8	100523692	100523692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatgtcaacacaagtgtaAtcagaatttttattccaaaa	4	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:100523692A>C	ENST00000358544.2	+	29	4771	c.4660A>C	c.(4660-4662)Atc>Ctc	p.I1554L	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1529L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1554					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACAAGTGTAATCAGAATTTT	0.343																																					Colon(161;2205 2542 7338 31318)												0													32	32	32					8																	100523692		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4660A>C	8.37:g.100523692A>C	ENSP00000351346:p.Ile1554Leu		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.I1554L	ENST00000358544.2	37	c.4660	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310793	0.60414	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70869	-0.49;-0.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	L	0.60455	1.87	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.985	D;D;D	0.72625	0.978;0.978;0.952	T	0.79374	-0.1830	10	0.34782	T	0.22	.	15.8462	0.78895	1.0:0.0:0.0:0.0	.	1553;1529;1554	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	L	1529;1554	ENSP00000349685:I1529L;ENSP00000351346:I1554L	ENSP00000349685:I1529L	I	+	1	0	VPS13B	100592868	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.027000	0.93706	2.202000	0.70862	0.477000	0.44152	ATC	VPS13B	-	NULL		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	A	NM_184042		100523692	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100523692	A	C	100523692	3	2	131	1	0	0	0	0	1	0	0	0	17221	101	4	5	4964	5	VPS13B	8	100523692	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2726365	100523692	45840330	979	21119										
RGS22	26166	genome.wustl.edu	37	chr8	101076270	101076270	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatcatcaaagataaaattCtctgtattaagtcataaaaa	3	7	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:101076270C>A	ENST00000360863.6	-	8	920	c.726G>T	c.(724-726)gaG>gaT	p.E242D	RGS22_ENST00000523287.1_Splice_Site_p.E61D|RGS22_ENST00000523437.1_Splice_Site_p.E230D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	242					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATAAAATTCTCTGTATTAA	0.313																																																	0													102	107	106					8																	101076270		1791	4042	5833	SO:0001630	splice_region_variant	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.725-1G>T	8.37:g.101076270C>A			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.E242D	ENST00000360863.6	37	c.726	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029319	0.35797	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.33438	1.43;1.41;1.43	5.86	0.587	0.17439	.	0.648225	0.15511	N	0.258545	T	0.18045	0.0433	L	0.28740	0.885	0.24066	N	0.995998	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.16453	-1.0402	10	0.35671	T	0.21	.	5.0276	0.14393	0.1348:0.5377:0.0:0.3275	.	230;242;61	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	D	242;230;61;230	ENSP00000354109:E242D;ENSP00000429382:E61D;ENSP00000428212:E230D	ENSP00000354109:E242D	E	-	3	2	RGS22	101145446	0.298000	0.24417	0.996000	0.52242	0.819000	0.46315	0.075000	0.14686	0.151000	0.19162	0.650000	0.86243	GAG	RGS22	-	NULL		0.313	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	C	NM_015668	Missense_Mutation	101076270	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	missense	SNP	0.977	A	A	101076270	C	A	101076270	5	1	131	1	0	0	0	0	0	0	1	0	13335	927	32	3	3148	3	RGS22	8	101076270	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	552578	101076270	45287752	980	21120										
FZD6	8323	genome.wustl.edu	37	chr8	104337581	104337581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actaaagaaatttatgattcGaattggagtcttcagcggct	9	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:104337581G>A	ENST00000358755.4	+	4	1564	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	FZD6_ENST00000540287.1_Missense_Mutation_p.R111Q|FZD6_ENST00000522566.1_Missense_Mutation_p.R416Q|FZD6_ENST00000523739.1_Missense_Mutation_p.R384Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	416					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R416Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTATGATTCGAATTGGAGTC	0.403																																																	1	Substitution - Missense(1)	urinary_tract(1)											137	129	132					8																	104337581		2203	4300	6503	SO:0001583	missense	8323			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1247G>A	8.37:g.104337581G>A	ENSP00000351605:p.Arg416Gln		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R416Q	ENST00000358755.4	37	c.1247	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.340033	0.95783	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.998	D	0.95189	0.8306	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	361;111;416;416	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	Q	416;416;384;111;361	ENSP00000429055:R416Q;ENSP00000351605:R416Q;ENSP00000429528:R384Q;ENSP00000443757:R111Q	ENSP00000351605:R416Q	R	+	2	0	FZD6	104406757	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGA	FZD6	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.403	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	G	NM_003506		104337581	1	no_errors	ENST00000358755	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104337581	G	A	104337581	3	1	131	1	0	0	0	0	1	0	0	0	6152	1058	37	1	1257	1	FZD6	8	104337581	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3261311	104337581	42026441	981	21121										
DPYS	1807	genome.wustl.edu	37	chr8	105456635	105456635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcgtggccctcagggcctgTtatccccagagccaacatct	9	16	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:105456635T>C	ENST00000351513.2	-	4	766	c.634A>G	c.(634-636)Aca>Gca	p.T212A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	212					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGGGCCTGTTATCCCCAGA	0.507																																																	0													58	56	57					8																	105456635		2203	4300	6503	SO:0001583	missense	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.634A>G	8.37:g.105456635T>C	ENSP00000276651:p.Thr212Ala			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.T212A	ENST00000351513.2	37	c.634	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895593	0.91962	.	.	ENSG00000147647	ENST00000351513	D	0.89746	-2.56	5.67	5.67	0.87782	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.86178	2.8	0.58432	D	0.999996	P	0.41673	0.759	P	0.48425	0.577	D	0.93723	0.7034	10	0.87932	D	0	-24.8678	15.9141	0.79496	0.0:0.0:0.0:1.0	.	212	Q14117	DPYS_HUMAN	A	212	ENSP00000276651:T212A	ENSP00000276651:T212A	T	-	1	0	DPYS	105525811	1.000000	0.71417	0.922000	0.36590	0.988000	0.76386	7.543000	0.82106	2.154000	0.67381	0.533000	0.62120	ACA	DPYS	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.507	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	T	NM_001385		105456635	-1	no_errors	ENST00000351513	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105456635	T	C	105456635	3	2	131	1	0	0	0	0	1	0	0	0	4756	1725	60	5	949	5	DPYS	8	105456635	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1119054	105456635	40907387	982	21122										
LRP12	29967	genome.wustl.edu	37	chr8	105521183	105521183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaccttatagtaatgatttCgcctgggtttgcccttatga	8	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:105521183C>T	ENST00000276654.5	-	3	364	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	LRP12_ENST00000424843.2_Missense_Mutation_p.E67K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTAATGATTTCGCCTGGGTTT	0.348																																																	0													117	111	113					8																	105521183		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.256G>A	8.37:g.105521183C>T	ENSP00000276654:p.Glu86Lys		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.E67K	ENST00000276654.5	37	c.199	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643881	0.87859	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.27557	1.66;1.66	5.44	5.44	0.79542	CUB (5);	0.098930	0.64402	D	0.000002	T	0.41073	0.1143	N	0.20881	0.62	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.99	P;P;P	0.60012	0.867;0.536;0.778	T	0.31641	-0.9936	10	0.62326	D	0.03	-21.7922	19.6218	0.95660	0.0:1.0:0.0:0.0	.	67;67;86	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	K	67;86;86	ENSP00000399148:E67K;ENSP00000276654:E86K	ENSP00000276654:E86K	E	-	1	0	LRP12	105590359	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.130000	0.77235	2.711000	0.92665	0.561000	0.74099	GAA	LRP12	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.348	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	C	NM_013437		105521183	-1	no_errors	ENST00000424843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105521183	C	T	105521183	3	4	131	1	0	0	0	0	1	0	0	0	8977	893	31	1	2343	1	LRP12	8	105521183	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	64548	105521183	40842839	983	21123										
ZFPM2	23414	genome.wustl.edu	37	chr8	106646569	106646569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagacaacaaaaacaactgCattgtgtacagcaaaggtaa	8	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:106646569C>T	ENST00000407775.2	+	5	766	c.516C>T	c.(514-516)tgC>tgT	p.C172C	ZFPM2_ENST00000520492.1_Silent_p.C40C|ZFPM2_ENST00000517361.1_Silent_p.C40C	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	172					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAACAACTGCATTGTGTACA	0.453																																																	0													95	92	93					8																	106646569		1998	4183	6181	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.516C>T	8.37:g.106646569C>T			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C172	ENST00000407775.2	37	c.516	CCDS47908.1	8																																																																																			ZFPM2	-	NULL		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	C			106646569	1	no_errors	ENST00000407775	ensembl	human	known	70_37	silent	SNP	1.000	T	T	106646569	C	T	106646569	2	4	131	1	0	0	0	0	0	0	0	1	17688	718	25	4		4	ZFPM2	8	106646569	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1125386	106646569	39717453	984	21124										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110498980	110498980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttggtgaagattaccccggTtggtctgaggactcttttgg	14	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:110498980T>C	ENST00000378402.5	+	59	9914	c.9810T>C	c.(9808-9810)ggT>ggC	p.G3270G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3270					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTACCCCGGTTGGTCTGAGG	0.408										HNSCC(38;0.096)																																							0													231	228	229					8																	110498980		1942	4128	6070	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9810T>C	8.37:g.110498980T>C			Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G3270	ENST00000378402.5	37	c.9810	CCDS47911.1	8																																																																																			PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	T	NM_177531		110498980	1	no_errors	ENST00000378402	ensembl	human	known	70_37	silent	SNP	0.968	C	C	110498980	T	C	110498980	2	2	131	1	0	0	0	0	0	0	0	1	11996	1712	60	5		5	PKHD1L1	8	110498980	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3852411	110498980	35865042	985	21125										
CSMD3	114788	genome.wustl.edu	37	chr8	113662424	113662424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtggatgactccaccagtgGtttttttcgcatagaagggg	13	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:113662424G>T	ENST00000297405.5	-	19	3403	c.3159C>A	c.(3157-3159)aaC>aaA	p.N1053K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N1013K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N1053K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N949K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													112	111	111					8																	113662424		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3159C>A	8.37:g.113662424G>T	ENSP00000297405:p.Asn1053Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.N1053K	ENST00000297405.5	37	c.3159	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795612	0.50208	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.74	2.0	0.26442	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	M	0.67953	2.075	0.29091	N	0.882093	P;P;P	0.48911	0.917;0.881;0.725	P;P;P	0.48921	0.557;0.595;0.557	T	0.60772	-0.7197	10	0.32370	T	0.25	.	8.5311	0.33335	0.4531:0.0:0.5469:0.0	.	949;1053;1013	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1013;1053;393;949;1053	ENSP00000345799:N1013K;ENSP00000297405:N1053K;ENSP00000341558:N393K;ENSP00000412263:N949K;ENSP00000343124:N1053K	ENSP00000297405:N1053K	N	-	3	2	CSMD3	113731600	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.328000	0.43867	0.370000	0.24538	0.561000	0.74099	AAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113662424	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113662424	G	T	113662424	3	4	131	1	0	0	0	0	1	0	0	0	3951	1252	44	4	8176	4	CSMD3	8	113662424	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3163444	113662424	32701598	986	21126										
SAMD12	401474	genome.wustl.edu	37	chr8	119391662	119391662	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagggaagtaatcttaaatCtgtatactattttctatgat	6	4	3	1	rs372144053		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:119391662C>A	ENST00000314727.4	-	4	736	c.600G>T	c.(598-600)caG>caT	p.Q200H	SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	200										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AATCTTAAATCTGTATACTAT	0.348																																																	0								C	,HIS/GLN	0,4406		0,0,2203	42	44	43		,600	1.6	0	8		43	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	SAMD12	NM_001101676.1,NM_207506.2	,24	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,benign	,200/202	119391662	1,13005	2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.600G>T	8.37:g.119391662C>A	ENSP00000314173:p.Gln200His		Q0P502	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q200H	ENST00000314727.4	37	c.600	CCDS6325.1	8	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993370	0.19043	0.0	1.16E-4	ENSG00000177570	ENST00000314727	.	.	.	2.88	1.59	0.23543	.	6.167390	0.00744	U	0.001030	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.12156	0.007	T	0.15838	-1.0423	8	.	.	.	.	6.9993	0.24801	0.4196:0.5804:0.0:0.0	.	200	Q8N8I0	SAM12_HUMAN	H	200	.	.	Q	-	3	2	SAMD12	119460843	0.001000	0.12720	0.007000	0.13788	0.041000	0.13682	0.359000	0.20233	0.459000	0.27016	0.650000	0.86243	CAG	SAMD12	-	NULL		0.348	SAMD12-001	KNOWN	basic|CCDS	protein_coding	SAMD12	HGNC	protein_coding	OTTHUMT00000132989.3	C	NM_207506		119391662	-1	no_errors	ENST00000314727	ensembl	human	known	70_37	missense	SNP	0.006	A	A	119391662	C	A	119391662	3	1	131	1	0	0	0	0	1	0	0	0	13847	912	32	3	36	3	SAMD12	8	119391662	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5729238	119391662	26972360	987	21127										
ENPP2	5168	genome.wustl.edu	37	chr8	120569809	120569809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatgtcttgagtgtcaggatTtctgggtagctgcggctggt	15	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:120569809T>G	ENST00000075322.6	-	25	2602	c.2544A>C	c.(2542-2544)gaA>gaC	p.E848D	ENPP2_ENST00000427067.2_Missense_Mutation_p.E869D|ENPP2_ENST00000259486.6_Missense_Mutation_p.E900D|ENPP2_ENST00000522167.1_Missense_Mutation_p.E483D|ENPP2_ENST00000522826.1_Missense_Mutation_p.E873D	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	848	Required for secretion. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGTCAGGATTTCTGGGTAGC	0.443																																					Melanoma(20;305 879 2501 4818 31020)												0													177	169	172					8																	120569809		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2544A>C	8.37:g.120569809T>G	ENSP00000075322:p.Glu848Asp		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E900D	ENST00000075322.6	37	c.2700	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260951	0.39995	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.02	2.4	0.29515	.	0.108901	0.64402	D	0.000002	T	0.23133	0.0559	L	0.35542	1.07	0.51767	D	0.999931	P;P;B;B;B	0.43231	0.801;0.786;0.032;0.383;0.433	B;B;B;B;B	0.42422	0.387;0.323;0.016;0.264;0.145	T	0.01739	-1.1284	10	0.34782	T	0.22	.	9.0676	0.36473	0.0:0.2145:0.0:0.7855	.	386;873;848;900;483	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	D	900;869;483;873;848	ENSP00000259486:E900D;ENSP00000403315:E869D;ENSP00000429476:E483D;ENSP00000428291:E873D;ENSP00000075322:E848D	ENSP00000075322:E848D	E	-	3	2	ENPP2	120638990	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	0.742000	0.26216	0.513000	0.28278	-0.250000	0.11733	GAA	ENPP2	-	NULL		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	T			120569809	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120569809	T	G	120569809	3	3	131	1	0	0	0	0	1	0	0	0	5142	1838	64	5	51	5	ENPP2	8	120569809	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1178147	120569809	25794213	988	21128										
ENPP2	5168	genome.wustl.edu	37	chr8	120596257	120596257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccctggaaaaagcattttCctgatggtttcttataaaca	6	9	1	1	rs567059238		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:120596257C>T	ENST00000075322.6	-	16	1458	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	ENPP2_ENST00000427067.2_Missense_Mutation_p.G463E|ENPP2_ENST00000259486.6_Missense_Mutation_p.G519E|ENPP2_ENST00000522167.1_Missense_Mutation_p.G106E|ENPP2_ENST00000522826.1_Missense_Mutation_p.G467E	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	467					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAAGCATTTTCCTGATGGTTT	0.333													C|||	1	0.000199681	0	0	5008	,	,		20161	0		0	False		,,,				2504	0.001				Melanoma(20;305 879 2501 4818 31020)												0													176	178	177					8																	120596257		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1400G>A	8.37:g.120596257C>T	ENSP00000075322:p.Gly467Glu		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G519E	ENST00000075322.6	37	c.1556	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766334	0.49574	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.74	5.74	0.90152	Alkaline-phosphatase-like, core domain (1);	0.402640	0.30519	N	0.009450	T	0.69405	0.3107	L	0.28694	0.88	0.58432	D	0.999999	B;B;P;B	0.35174	0.195;0.044;0.488;0.016	B;B;B;B	0.31245	0.065;0.036;0.126;0.013	T	0.68345	-0.5433	10	0.39692	T	0.17	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	467;467;519;106	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	E	519;463;106;467;467	ENSP00000259486:G519E;ENSP00000403315:G463E;ENSP00000429476:G106E;ENSP00000428291:G467E;ENSP00000075322:G467E	ENSP00000075322:G467E	G	-	2	0	ENPP2	120665438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.559000	0.53756	2.683000	0.91414	0.655000	0.94253	GGA	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120596257	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120596257	C	T	120596257	3	4	131	1	0	0	0	0	1	0	0	0	5142	855	30	1	1310	1	ENPP2	8	120596257	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	26448	120596257	25767765	989	21129										
ZHX2	22882	genome.wustl.edu	37	chr8	123964315	123964315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaaaacccccatcatgaagCctggaaaaccaaaagcggat	8	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:123964315C>T	ENST00000314393.4	+	3	1400	c.565C>T	c.(565-567)Cct>Tct	p.P189S		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	189					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CATCATGAAGCCTGGAAAACC	0.572																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0													123	131	128					8																	123964315		2203	4300	6503	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.565C>T	8.37:g.123964315C>T	ENSP00000314709:p.Pro189Ser			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.P189S	ENST00000314393.4	37	c.565	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	C	4.979	0.181888	0.09495	.	.	ENSG00000178764	ENST00000314393	T	0.16897	2.31	5.63	1.66	0.24008	.	0.665595	0.15274	N	0.271041	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.32107	-0.9919	10	0.33940	T	0.23	-0.0921	1.4762	0.02426	0.1492:0.4129:0.2233:0.2146	.	189	Q9Y6X8	ZHX2_HUMAN	S	189	ENSP00000314709:P189S	ENSP00000314709:P189S	P	+	1	0	ZHX2	124033496	0.000000	0.05858	0.995000	0.50966	0.919000	0.55068	-0.480000	0.06559	0.080000	0.16959	0.555000	0.69702	CCT	ZHX2	-	NULL		0.572	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	C	NM_014943		123964315	1	no_errors	ENST00000314393	ensembl	human	known	70_37	missense	SNP	0.386	T	T	123964315	C	T	123964315	3	4	131	1	0	0	0	0	1	0	0	0	17706	739	26	4	567	4	ZHX2	8	123964315	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3368058	123964315	22399707	990	21130										
ANXA13	312	genome.wustl.edu	37	chr8	124707747	124707747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctctttcctcttacctgcaGcagagacaccaggatttttt	6	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:124707747G>A	ENST00000419625.1	-	6	538	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	ANXA13_ENST00000262219.6_Silent_p.L197L	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	156					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTACCTGCAGCAGAGACACC	0.408																																																	0													138	135	136					8																	124707747		2203	4300	6503	SO:0001819	synonymous_variant	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.466C>T	8.37:g.124707747G>A			Q9BQR5	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.L197	ENST00000419625.1	37	c.589	CCDS47917.1	8																																																																																			ANXA13	-	superfamily_Annexin		0.408	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	G	NM_004306		124707747	-1	no_errors	ENST00000262219	ensembl	human	known	70_37	silent	SNP	0.994	A	A	124707747	G	A	124707747	2	1	131	1	0	0	0	0	0	0	0	1	717	962	34	4		4	ANXA13	8	124707747	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	743432	124707747	21656275	991	21131										
ST3GAL1	6482	genome.wustl.edu	37	chr8	134477189	134477189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcaaaccctgccgtgggcGccttgttcatcctgggagag	12	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:134477189G>A	ENST00000319914.5	-	6	1542	c.515C>T	c.(514-516)gCg>gTg	p.A172V	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.A172V|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.A172V|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.A172V			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	172					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TGCCGTGGGCGCCTTGTTCAT	0.577																																																	0													114	108	110					8																	134477189		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.515C>T	8.37:g.134477189G>A	ENSP00000318445:p.Ala172Val		O60677|Q9UN51	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A172V	ENST00000319914.5	37	c.515	CCDS6373.1	8	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038384	0.93630	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	M	0.89904	3.07	0.58432	D	0.999999	D	0.71674	0.998	D	0.62955	0.909	T	0.82756	-0.0300	10	0.87932	D	0	-0.0783	16.9451	0.86228	0.0:0.0:1.0:0.0	.	172	Q11201	SIA4A_HUMAN	V	172;172;172;172;42;42	ENSP00000318445:A172V;ENSP00000414073:A172V;ENSP00000428540:A172V;ENSP00000430515:A172V;ENSP00000429638:A42V;ENSP00000427720:A42V	ENSP00000318445:A172V	A	-	2	0	ST3GAL1	134546371	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.684000	0.84104	2.235000	0.73313	0.511000	0.50034	GCG	ST3GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	G	NM_003033		134477189	-1	no_errors	ENST00000319914	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134477189	G	A	134477189	3	1	131	1	0	0	0	0	1	0	0	0	15244	1087	38	2	523	2	ST3GAL1	8	134477189	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	9769442	134477189	11886833	992	21132										
FAM135B	51059	genome.wustl.edu	37	chr8	139163664	139163664	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggctgtccagagtaaaggtCtctgcagaagtcagatggga	14	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:139163664C>T	ENST00000395297.1	-	13	3224	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1018										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGTAAAGGTCTCTGCAGAAG	0.527										HNSCC(54;0.14)																																							0													74	73	73					8																	139163664		2203	4300	6503	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3054G>A	8.37:g.139163664C>T			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.E1018	ENST00000395297.1	37	c.3054	CCDS6375.2	8																																																																																			FAM135B	-	NULL		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	C	NM_015912		139163664	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	silent	SNP	0.681	T	T	139163664	C	T	139163664	2	4	131	1	0	0	0	0	0	0	0	1	5464	912	32	1		1	FAM135B	8	139163664	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4686475	139163664	7200358	993	21133										
FAM135B	51059	genome.wustl.edu	37	chr8	139380195	139380195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaatttatgtagctctaccGaaaactcaaccgttccttgt	5	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:139380195G>A	ENST00000395297.1	-	2	202	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368										HNSCC(54;0.14)																																							2	Substitution - Missense(2)	large_intestine(2)											153	146	148					8																	139380195		1863	4102	5965	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.32C>T	8.37:g.139380195G>A	ENSP00000378710:p.Ser11Leu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S11L	ENST00000395297.1	37	c.32	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	31	5.091740	0.94149	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15718	2.4	5.54	5.54	0.83059	.	0.000000	0.53938	U	0.000057	T	0.36608	0.0973	L	0.51853	1.615	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.00878	-1.1530	10	0.23302	T	0.38	-8.1994	18.3941	0.90493	0.0:0.0:1.0:0.0	.	11	Q49AJ0	F135B_HUMAN	L	11	ENSP00000378710:S11L	ENSP00000160713:S11L	S	-	2	0	FAM135B	139449377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	TCG	FAM135B	-	NULL		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	G	NM_015912		139380195	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139380195	G	A	139380195	3	1	131	1	0	0	0	0	1	0	0	0	5464	1059	37	1	4264	1	FAM135B	8	139380195	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	216531	139380195	6983827	994	21134										
COL22A1	169044	genome.wustl.edu	37	chr8	139629177	139629177	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccggggaccgggtgcaccagAatcgcctgtgtgtcccttga	14	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:139629177A>C	ENST00000303045.6	-	54	4296	c.3850T>G	c.(3850-3852)Tct>Gct	p.S1284A	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.S1264A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1284	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTGCACCAGAATCGCCTGTG	0.582										HNSCC(7;0.00092)																																							0													78	77	77					8																	139629177		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3850T>G	8.37:g.139629177A>C	ENSP00000303153:p.Ser1284Ala		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.S1284A	ENST00000303045.6	37	c.3850	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	A	2.612	-0.290615	0.05568	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93247	-3.19;-3.19	4.35	-6.06	0.02165	.	0.885977	0.09483	N	0.796023	T	0.76919	0.4055	N	0.04297	-0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.68326	-0.5438	10	0.15952	T	0.53	.	2.578	0.04811	0.2004:0.4138:0.262:0.1237	.	1264;1284	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1284;1264;977	ENSP00000303153:S1284A;ENSP00000387655:S1264A	ENSP00000303153:S1284A	S	-	1	0	COL22A1	139698359	0.321000	0.24625	0.002000	0.10522	0.315000	0.28087	-0.417000	0.07088	-1.217000	0.02604	-0.406000	0.06334	TCT	COL22A1	-	pfam_Collagen		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	A	XM_291257		139629177	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.003	C	C	139629177	A	C	139629177	3	2	131	1	0	0	0	0	1	0	0	0	3686	246	9	5	1078	5	COL22A1	8	139629177	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	248982	139629177	6734845	995	21135										
PTK2	5747	genome.wustl.edu	37	chr8	141813692	141813692	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattccttttctgtccttgtCttcactgtttgaatactgaa	5	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:141813692C>A	ENST00000522684.1	-	11	1154	c.925G>T	c.(925-927)Gac>Tac	p.D309Y	PTK2_ENST00000340930.3_Missense_Mutation_p.D309Y|PTK2_ENST00000519419.1_Missense_Mutation_p.D353Y|PTK2_ENST00000521059.1_Missense_Mutation_p.D309Y|PTK2_ENST00000535192.1_Missense_Mutation_p.D309Y|PTK2_ENST00000395218.2_Missense_Mutation_p.D309Y|PTK2_ENST00000517887.1_Missense_Mutation_p.D353Y	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	309	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGTCCTTGTCTTCACTGTTT	0.378																																																	0													303	250	268					8																	141813692		2203	4300	6503	SO:0001583	missense	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.925G>T	8.37:g.141813692C>A	ENSP00000429911:p.Asp309Tyr		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D309Y	ENST00000522684.1	37	c.925	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535701|4.535701	0.85812|0.85812	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000342207|ENST00000519654	T;T;T;T;T;T;T|.	0.11930|.	2.73;2.73;2.73;2.73;2.73;2.73;2.73|.	5.15|5.15	5.15|5.15	0.70609|0.70609	FERM domain (1);|.	0.048499|.	0.85682|.	D|.	0.000000|.	T|T	0.71178|0.71178	0.3309|0.3309	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	P;P;P;P;P;D|.	0.53619|.	0.924;0.936;0.956;0.869;0.908;0.961|.	P;P;P;P;B;P|.	0.57204|.	0.457;0.6;0.457;0.6;0.263;0.815|.	T|T	0.69034|0.69034	-0.5252|-0.5252	10|5	0.62326|.	D|.	0.03|.	.|.	18.6276|18.6276	0.91347|0.91347	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;216;309;331;309;220|.	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6|.	.;.;FAK1_HUMAN;.;.;.|.	Y|I	309;309;353;309;219;309;216;309;353;127|319	ENSP00000429911:D309Y;ENSP00000438009:D309Y;ENSP00000429082:D353Y;ENSP00000429474:D309Y;ENSP00000378644:D309Y;ENSP00000341189:D309Y;ENSP00000429129:D353Y|.	ENSP00000341189:D309Y|.	D|R	-|-	1|2	0|0	PTK2|PTK2	141882874|141882874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.070000|7.070000	0.76763|0.76763	2.404000|2.404000	0.81709|0.81709	0.467000|0.467000	0.42956|0.42956	GAC|AGA	PTK2	-	pfscan_FERM_domain		0.378	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	C	NM_005607		141813692	-1	no_errors	ENST00000395218	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141813692	C	A	141813692	3	1	131	1	0	0	0	0	1	0	0	0	12790	913	32	3	2321	3	PTK2	8	141813692	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2184515	141813692	4550330	996	21136										
LY6K	54742	genome.wustl.edu	37	chr8	143784515	143784515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatttcctattagaaatatTtccacgttttttcatggttg	5	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:143784515T>G	ENST00000292430.6	+	3	641	c.224T>G	c.(223-225)tTt>tGt	p.F75C	LY6K_ENST00000519387.1_Intron|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.F133C|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	75	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTAGAAATATTTCCACGTTTT	0.527																																																	0													48	46	47					8																	143784515		2203	4300	6503	SO:0001583	missense	54742			AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"cancer/testis antigen 97"	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.224T>G	8.37:g.143784515T>G	ENSP00000292430:p.Phe75Cys		G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	NULL	p.F133C	ENST00000292430.6	37	c.398	CCDS6385.2	8	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947848	0.34377	.	.	ENSG00000160886	ENST00000292430	T	0.50813	0.73	3.16	1.96	0.26148	.	0.746584	0.11029	N	0.607477	T	0.52370	0.1730	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.33343	-0.9872	10	0.54805	T	0.06	.	5.5535	0.17103	0.2454:0.0:0.0:0.7546	.	75	Q17RY6	LY6K_HUMAN	C	133	ENSP00000292430:F133C	ENSP00000292430:F133C	F	+	2	0	LY6K	143781517	0.004000	0.15560	0.004000	0.12327	0.038000	0.13279	0.962000	0.29280	0.555000	0.29079	0.533000	0.62120	TTT	LY6K	-	NULL		0.527	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LY6K	HGNC	protein_coding	OTTHUMT00000379893.2	T	NM_017527		143784515	1	no_errors	ENST00000561179	ensembl	human	known	70_37	missense	SNP	0.009	G	G	143784515	T	G	143784515	3	3	131	1	0	0	0	0	1	0	0	0	9121	1841	64	5	384	5	LY6K	8	143784515	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1970823	143784515	2579507	997	21137										
ZC3H3	23144	genome.wustl.edu	37	chr8	144520231	144520231	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggtccctggggtcctcacaGacgtggtttgatgtgcagag	15	10	1	3	rs149968226	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:144520231G>T	ENST00000262577.5	-	12	2873	c.2842C>A	c.(2842-2844)Ctg>Atg	p.L948M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	948					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGTCCTCACAGACGTGGTTTG	0.602																																																	0													77	70	72					8																	144520231		2200	4300	6500	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2842C>A	8.37:g.144520231G>T	ENSP00000262577:p.Leu948Met		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.L948M	ENST00000262577.5	37	c.2842	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833163	0.32421	.	.	ENSG00000014164	ENST00000262577	T	0.04862	3.54	3.78	2.9	0.33743	.	0.181868	0.26776	N	0.022558	T	0.13200	0.0320	L	0.29908	0.895	0.28417	N	0.917906	D	0.89917	1.0	D	0.83275	0.996	T	0.01725	-1.1287	10	0.59425	D	0.04	.	10.5226	0.44929	0.0983:0.0:0.9017:0.0	.	948	Q8IXZ2	ZC3H3_HUMAN	M	948	ENSP00000262577:L948M	ENSP00000262577:L948M	L	-	1	2	ZC3H3	144591374	0.950000	0.32346	0.775000	0.31657	0.022000	0.10575	1.168000	0.31859	0.941000	0.37499	-0.143000	0.13931	CTG	ZC3H3	-	NULL		0.602	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	G	NM_015117		144520231	-1	no_errors	ENST00000262577	ensembl	human	known	70_37	missense	SNP	0.948	T	T	144520231	G	T	144520231	3	4	131	1	0	0	0	0	1	0	0	0	17599	933	33	3	8	3	ZC3H3	8	144520231	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	735716	144520231	1843791	998	21138										
SCRIB	23513	genome.wustl.edu	37	chr8	144896062	144896062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgctctccgggatctcaggGatatctgtcacagagggtca	12	10	5	1	rs371973612		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:144896062G>A	ENST00000320476.3	-	3	288	c.282C>T	c.(280-282)atC>atT	p.I94I	SCRIB_ENST00000377533.3_Silent_p.I13I|SCRIB_ENST00000356994.2_Silent_p.I94I|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	94	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGATCTCAGGGATATCTGTCA	0.652																																					Pancreas(51;966 1133 10533 14576 29674)												0								G	,	0,4406		0,0,2203	42	42	42		282,282	0.4	1	8		42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	94/1631,94/1656	144896062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.282C>T	8.37:g.144896062G>A			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.I94	ENST00000320476.3	37	c.282	CCDS6411.1	8																																																																																			SCRIB	-	smart_Leu-rich_rpt_typical-subtyp		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144896062	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	silent	SNP	1.000	A	A	144896062	G	A	144896062	2	1	131	1	0	0	0	0	0	0	0	1	13967	1164	41	1		1	SCRIB	8	144896062	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	375831	144896062	1467960	999	21139										
NRBP2	340371	genome.wustl.edu	37	chr8	144919847	144919847	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcttcagcgagtgcacctcGaagagcacgcggtggaagag	15	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:144919847G>A	ENST00000442628.2	-	11	1060	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NRBP2_ENST00000327830.5_Silent_p.F64F	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTGCACCTCGAAGAGCACGC	0.692																																																	0													29	34	32					8																	144919847		2200	4295	6495	SO:0001819	synonymous_variant	340371			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.921C>T	8.37:g.144919847G>A				Silent	SNP	superfamily_Kinase-like_dom	p.F64	ENST00000442628.2	37	c.192	CCDS34959.2	8																																																																																			NRBP2	-	superfamily_Kinase-like_dom		0.692	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NRBP2	HGNC	protein_coding	OTTHUMT00000382247.1	G	NM_178564		144919847	-1	no_errors	ENST00000327830	ensembl	human	known	70_37	silent	SNP	0.994	A	A	144919847	G	A	144919847	2	1	131	1	0	0	0	0	0	0	0	1	10667	1049	37	1		1	NRBP2	8	144919847	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	23785	144919847	1444175	1000	21140										
ZNF16	7564	genome.wustl.edu	37	chr8	146156819	146156819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctccagtgtgaattctccGatgctgaataaggctggagc	11	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:146156819G>A	ENST00000276816.4	-	4	1540	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R452W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	452					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAATTCTCCGATGCTGAATA	0.478																																																	0													83	81	82					8																	146156819		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1354C>T	8.37:g.146156819G>A	ENSP00000276816:p.Arg452Trp		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R452W	ENST00000276816.4	37	c.1354	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599273	0.28534	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.18810	2.19;2.19	3.88	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41811	0.1175	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09100	-1.0690	9	0.87932	D	0	.	11.6581	0.51330	0.0:0.0:0.8223:0.1777	.	452	P17020	ZNF16_HUMAN	W	452	ENSP00000276816:R452W;ENSP00000378369:R452W	ENSP00000276816:R452W	R	-	1	2	ZNF16	146127623	0.001000	0.12720	0.322000	0.25334	0.349000	0.29174	1.000000	0.29770	1.985000	0.57927	0.462000	0.41574	CGG	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146156819	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	missense	SNP	0.044	A	A	146156819	G	A	146156819	3	1	131	1	0	0	0	0	1	0	0	0	17768	1057	37	1	698	1	ZNF16	8	146156819	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1236972	146156819	207203	1001	21141										
DOCK8	81704	genome.wustl.edu	37	chr9	414881	414881	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaccagaggtgaaggtcaaAatcgccgccctttacctacc	8	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:414881A>C	ENST00000453981.1	+	29	3742	c.3630A>C	c.(3628-3630)aaA>aaC	p.K1210N	DOCK8_ENST00000432829.2_Missense_Mutation_p.K1142N|DOCK8_ENST00000469391.1_Missense_Mutation_p.K1110N|DOCK8_ENST00000382329.1_Missense_Mutation_p.K677N			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1210					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAAGGTCAAAATCGCCGCCC	0.468																																																	0													234	216	222					9																	414881		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3630A>C	9.37:g.414881A>C	ENSP00000408464:p.Lys1210Asn		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K1210N	ENST00000453981.1	37	c.3630	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878033	0.72294	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.17213	2.51;2.51;2.52;2.29	6.02	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.74881	2.28	0.53688	D	0.999979	P;P;P	0.42649	0.645;0.645;0.786	B;P;P	0.49752	0.368;0.468;0.621	T	0.02020	-1.1228	10	0.66056	D	0.02	.	10.1528	0.42805	0.8663:0.0:0.1337:0.0	.	1110;677;1210	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	N	1210;1178;1142;1110;677	ENSP00000408464:K1210N;ENSP00000394888:K1142N;ENSP00000419438:K1110N;ENSP00000371766:K677N	ENSP00000287364:K1178N	K	+	3	2	DOCK8	404881	1.000000	0.71417	0.800000	0.32199	0.974000	0.67602	1.926000	0.40084	0.532000	0.28657	0.533000	0.62120	AAA	DOCK8	-	NULL		0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	A	XM_036307		414881	1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	0.981	C	C	414881	A	C	414881	3	2	131	1	0	0	0	0	1	0	0	0	4703	11	1	5	3744	5	DOCK8	9	414881	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09		414881	140798550	1002	21142										
KIAA0020	9933	genome.wustl.edu	37	chr9	2830977	2830977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttacccatacatgagaaatTtcttaacaatatttctcgaa	3	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:2830977T>C	ENST00000397885.2	-	7	868	c.662A>G	c.(661-663)aAa>aGa	p.K221R	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	221	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CATGAGAAATTTCTTAACAAT	0.308																																																	0													33	32	32					9																	2830977		2188	4288	6476	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.662A>G	9.37:g.2830977T>C	ENSP00000380982:p.Lys221Arg		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.K221R	ENST00000397885.2	37	c.662	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431719	0.83776	.	.	ENSG00000080608	ENST00000397885	T	0.70516	-0.49	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.85945	2.785	0.80722	D	1	P;P	0.45283	0.855;0.768	B;P	0.48270	0.443;0.572	T	0.81662	-0.0831	10	0.46703	T	0.11	-26.1181	14.8264	0.70117	0.0:0.0:0.0:1.0	.	81;221	B2RDG4;Q15397	.;K0020_HUMAN	R	221	ENSP00000380982:K221R	ENSP00000380982:K221R	K	-	2	0	KIAA0020	2820977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.573000	0.74009	2.093000	0.63338	0.528000	0.53228	AAA	KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.308	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	T	NM_014878		2830977	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2830977	T	C	2830977	3	2	131	1	0	0	0	0	1	0	0	0	8172	1841	64	5	1332	5	KIAA0020	9	2830977	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2416096	2830977	138382454	1003	21143										
SLC1A1	6505	genome.wustl.edu	37	chr9	4576646	4576646	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggatcactcgattcgtgtTacccgttggtgcaacaatca	10	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:4576646T>G	ENST00000262352.3	+	10	1312	c.1076T>G	c.(1075-1077)tTa>tGa	p.L359*		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	359					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CGATTCGTGTTACCCGTTGGT	0.483																																																	0													218	199	205					9																	4576646		2203	4300	6503	SO:0001587	stop_gained	6505				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1076T>G	9.37:g.4576646T>G	ENSP00000262352:p.Leu359*		O75587|Q5VZ24|Q8N199|Q9UEW2	Nonsense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L359*	ENST00000262352.3	37	c.1076	CCDS6452.1	9	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910813	0.72983	.	.	ENSG00000106688	ENST00000262352	.	.	.	5.54	5.54	0.83059	.	0.067345	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	X	359	.	ENSP00000262352:L359X	L	+	2	0	SLC1A1	4566646	0.984000	0.35163	0.037000	0.18230	0.273000	0.26683	8.024000	0.88770	2.097000	0.63578	0.533000	0.62120	TTA	SLC1A1	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.483	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	HGNC	protein_coding	OTTHUMT00000051571.1	T			4576646	1	no_errors	ENST00000262352	ensembl	human	known	70_37	nonsense	SNP	0.764	G	G	4576646	T	G	4576646	4	3	131	1	0	0	0	0	0	1	0	0	14461	1764	61	5	1114	5	SLC1A1	9	4576646	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1745669	4576646	136636785	1004	21144										
JAK2	3717	genome.wustl.edu	37	chr9	5050791	5050791	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atatgatgagaatagccaaaGaaaacgatcaaaccccactg	7	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5050791G>T	ENST00000381652.3	+	6	1068	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E43*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E192*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATAGCCAAAGAAAACGATCA	0.373		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													149	153	152					9																	5050791		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.574G>T	9.37:g.5050791G>T	ENSP00000371067:p.Glu192*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E192*	ENST00000381652.3	37	c.574	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.647766	0.98409	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.8401	18.2288	0.89927	0.0:0.0:1.0:0.0	.	.	.	.	X	192;192;43	.	ENSP00000371067:E192X	E	+	1	0	JAK2	5040791	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	9.379000	0.97198	2.301000	0.77427	0.462000	0.41574	GAA	JAK2	-	superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.373	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5050791	1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	5050791	G	T	5050791	4	4	131	1	0	0	0	0	0	1	0	0	7958	943	33	3	588	3	JAK2	9	5050791	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	474145	5050791	136162640	1005	21145										
JAK2	3717	genome.wustl.edu	37	chr9	5090886	5090886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagaatactataaagtaaaaGaacctggtgaaagtcccata	7	6	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5090886G>T	ENST00000381652.3	+	22	3528	c.3034G>T	c.(3034-3036)Gaa>Taa	p.E1012*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E863*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E1012*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1012	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAAAGTAAAAGAACCTGGTGA	0.313		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													78	87	84					9																	5090886		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3034G>T	9.37:g.5090886G>T	ENSP00000371067:p.Glu1012*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1012*	ENST00000381652.3	37	c.3034	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	44	11.132099	0.99520	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0502	19.7971	0.96490	0.0:0.0:1.0:0.0	.	.	.	.	X	1012;1012;863	.	ENSP00000371067:E1012X	E	+	1	0	JAK2	5080886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.324000	0.96373	2.757000	0.94681	0.585000	0.79938	GAA	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.313	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5090886	1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	5090886	G	T	5090886	4	4	131	1	0	0	0	0	0	1	0	0	7958	943	33	3	3112	3	JAK2	9	5090886	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	40095	5090886	136122545	1006	21146										
CD274	29126	genome.wustl.edu	37	chr9	5466819	5466819	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccaagatacaaactcaaaGaagcaaagtggtaagaatat	7	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5466819G>T	ENST00000381577.3	+	6	926	c.840G>T	c.(838-840)aaG>aaT	p.K280N	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.K166N	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	280					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CAAACTCAAAGAAGCAAAGTG	0.343			T	CIITA	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		9	9p24	29126	CD274 molecule		L	0													120	114	116					9																	5466819		2203	4300	6503	SO:0001583	missense	29126			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17635	protein-coding gene	gene with protein product	"B7 homolog 1"	605402	"programmed cell death 1 ligand 1", "CD274 antigen"	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.840G>T	9.37:g.5466819G>T	ENSP00000370989:p.Lys280Asn		B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like	p.K280N	ENST00000381577.3	37	c.840	CCDS6464.1	9	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248775	0.22880	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.34859	1.34;5.04	4.16	3.25	0.37280	.	0.453441	0.20672	N	0.087819	T	0.27489	0.0675	L	0.44542	1.39	0.27540	N	0.950824	P;P	0.44734	0.842;0.454	B;B	0.38428	0.273;0.15	T	0.19095	-1.0316	10	0.66056	D	0.02	-15.0079	8.4486	0.32858	0.1072:0.0:0.8928:0.0	.	166;280	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	N	166;280	ENSP00000370985:K166N;ENSP00000370989:K280N	ENSP00000370985:K166N	K	+	3	2	CD274	5456819	0.077000	0.21312	0.376000	0.26042	0.484000	0.33280	1.508000	0.35769	1.311000	0.45024	0.561000	0.74099	AAG	CD274	-	NULL		0.343	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD274	HGNC	protein_coding	OTTHUMT00000051631.2	G	NM_014143		5466819	1	no_errors	ENST00000381577	ensembl	human	known	70_37	missense	SNP	0.492	T	T	5466819	G	T	5466819	3	4	131	1	0	0	0	0	1	0	0	0	2996	933	33	3	858	3	CD274	9	5466819	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	375933	5466819	135746612	1007	21147										
PDCD1LG2	80380	genome.wustl.edu	37	chr9	5549468	5549468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcgttcctgccaacaccagCcactccaggacccctgaagg	9	17	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5549468C>A	ENST00000397747.3	+	4	743	c.495C>A	c.(493-495)agC>agA	p.S165R	PDCD1LG2_ENST00000397745.2_Intron	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	165	Ig-like C2-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCAACACCAGCCACTCCAGGA	0.557																																																	0													59	60	59					9																	5549468		2203	4300	6503	SO:0001583	missense	80380			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.495C>A	9.37:g.5549468C>A	ENSP00000380855:p.Ser165Arg		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.S165R	ENST00000397747.3	37	c.495	CCDS6465.1	9	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485665	0.63962	.	.	ENSG00000197646	ENST00000397747	T	0.03152	4.03	5.16	2.31	0.28768	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.269351	0.31821	N	0.007010	T	0.11367	0.0277	M	0.83483	2.645	0.48830	D	0.999711	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.58780	0.845;0.845;0.845	T	0.01819	-1.1267	10	0.48119	T	0.1	-5.5138	3.9538	0.09380	0.0:0.5325:0.1789:0.2886	.	154;165;165	Q2LC89;A4GW21;Q9BQ51	.;.;PD1L2_HUMAN	R	165	ENSP00000380855:S165R	ENSP00000380855:S165R	S	+	3	2	PDCD1LG2	5539468	0.139000	0.22563	0.992000	0.48379	0.843000	0.47879	0.249000	0.18216	0.582000	0.29556	0.655000	0.94253	AGC	PDCD1LG2	-	pfam_CD80_C2-set,pfscan_Ig-like		0.557	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1	C	NM_025239		5549468	1	no_errors	ENST00000397747	ensembl	human	known	70_37	missense	SNP	0.831	A	A	5549468	C	A	5549468	3	1	131	1	0	0	0	0	1	0	0	0	11642	738	26	4	505	4	PDCD1LG2	9	5549468	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	82649	5549468	135663963	1008	21148										
KIAA1432	57589	genome.wustl.edu	37	chr9	5765691	5765691	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaagtggtggatttgagttCttcaggaatcgaagcatcag	12	6	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5765691C>A	ENST00000414202.2	+	21	3221	c.3030C>A	c.(3028-3030)ttC>ttA	p.F1010L	KIAA1432_ENST00000251879.6_Missense_Mutation_p.F1010L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.F894L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.F931L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.F931L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATTTGAGTTCTTCAGGAATC	0.433																																																	0													235	230	232					9																	5765691		2203	4300	6503	SO:0001583	missense	57589																														ENST00000414202.2:c.3030C>A	9.37:g.5765691C>A	ENSP00000416696:p.Phe1010Leu			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.F931L	ENST00000414202.2	37	c.2793	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541055|3.541055	0.65085|0.65085	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76047|0.76047	0.3933|0.3933	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P;B|.	0.39831|.	0.498;0.498;0.69;0.045|.	B;B;B;B|.	0.36666|.	0.115;0.164;0.23;0.034|.	T|T	0.71859|0.71859	-0.4465|-0.4465	9|5	0.25106|.	T|.	0.35|.	-18.4469|-18.4469	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	894;931;1010;1010|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	L|I	1010;1010;931;931;894|902	.|.	ENSP00000251879:F1010L|.	F|L	+|+	3|1	2|0	KIAA1432|KIAA1432	5755691|5755691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.004000|3.004000	0.49513|0.49513	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TTC|CTT	KIAA1432	-	NULL		0.433	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	C			5765691	1	no_errors	ENST00000418622	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5765691	C	A	5765691	3	1	131	1	0	0	0	0	1	0	0	0	8253	912	32	3	2871	3	KIAA1432	9	5765691	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	216223	5765691	135447740	1009	21149										
KIAA2026	158358	genome.wustl.edu	37	chr9	5921108	5921108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatattctgactcacaaaatTtgagcttactggaactgaat	6	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5921108T>G	ENST00000399933.3	-	8	4887	c.4888A>C	c.(4888-4890)Aat>Cat	p.N1630H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1600H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1630										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCACAAAATTTGAGCTTACT	0.368																																																	0													107	100	102					9																	5921108		1847	4103	5950	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4888A>C	9.37:g.5921108T>G	ENSP00000382815:p.Asn1630His		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.N1630H	ENST00000399933.3	37	c.4888		9	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932659	0.34096	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.29	5.29	0.74685	.	0.450111	0.23319	N	0.049466	T	0.30103	0.0754	L	0.32530	0.975	0.24784	N	0.992794	B	0.23806	0.091	B	0.20955	0.032	T	0.20840	-1.0263	9	0.66056	D	0.02	-8.6684	6.726	0.23357	0.0:0.0768:0.1546:0.7686	.	1630	Q5HYC2	K2026_HUMAN	H	1630;1600	.	ENSP00000370870:N1600H	N	-	1	0	KIAA2026	5911108	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	1.659000	0.37387	2.226000	0.72624	0.482000	0.46254	AAT	KIAA2026	-	NULL		0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	T	NM_001017969		5921108	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	5921108	T	G	5921108	3	3	131	1	0	0	0	0	1	0	0	0	8290	1841	64	5	1427	5	KIAA2026	9	5921108	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	155417	5921108	135292323	1010	21150										
RANBP6	26953	genome.wustl.edu	37	chr9	6012865	6012865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttagtagcattggccaccGaaaatattctacatatttaa	5	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:6012865G>A	ENST00000259569.5	-	1	2753	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	915					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTGGCCACCGAAAATATTCT	0.443																																																	0													67	63	65					9																	6012865		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2743C>T	9.37:g.6012865G>A	ENSP00000259569:p.Arg915Trp		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R915W	ENST00000259569.5	37	c.2743	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906956	0.33628	.	.	ENSG00000137040	ENST00000259569	T	0.68181	-0.31	4.46	2.6	0.31112	Armadillo-like helical (1);Armadillo-type fold (2);	0.151374	0.44688	D	0.000433	T	0.33876	0.0878	N	0.08118	0	0.32978	D	0.523207	P;P;P	0.44627	0.839;0.737;0.839	B;B;B	0.23275	0.045;0.031;0.045	T	0.52555	-0.8560	10	0.72032	D	0.01	-7.4196	7.5938	0.28035	0.0892:0.0:0.7465:0.1644	.	82;503;915	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	W	915	ENSP00000259569:R915W	ENSP00000259569:R915W	R	-	1	2	RANBP6	6002865	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.352000	0.59404	0.796000	0.33947	0.650000	0.86243	CGG	RANBP6	-	superfamily_ARM-type_fold		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	G	NM_012416		6012865	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6012865	G	A	6012865	3	1	131	1	0	0	0	0	1	0	0	0	13061	1057	37	1	578	1	RANBP6	9	6012865	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	91757	6012865	135200566	1011	21151										
RANBP6	26953	genome.wustl.edu	37	chr9	6013473	6013473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaaaggaaccatcagcttcAcaacttgttctgtatattcc	6	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:6013473A>G	ENST00000259569.5	-	1	2145	c.2135T>C	c.(2134-2136)gTg>gCg	p.V712A	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	712					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATCAGCTTCACAACTTGTTC	0.408																																																	0													120	121	121					9																	6013473		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2135T>C	9.37:g.6013473A>G	ENSP00000259569:p.Val712Ala		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V712A	ENST00000259569.5	37	c.2135	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	A	11.26	1.587297	0.28268	.	.	ENSG00000137040	ENST00000259569	T	0.69040	-0.37	3.79	3.79	0.43588	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.49966	0.1588	L	0.45228	1.405	0.80722	D	1	P;P	0.37276	0.589;0.589	B;B	0.32393	0.145;0.145	T	0.48222	-0.9054	10	0.07990	T	0.79	-9.6891	11.1695	0.48563	1.0:0.0:0.0:0.0	.	300;712	B4DTX6;O60518	.;RNBP6_HUMAN	A	712	ENSP00000259569:V712A	ENSP00000259569:V712A	V	-	2	0	RANBP6	6003473	1.000000	0.71417	0.937000	0.37676	0.997000	0.91878	6.973000	0.76116	1.948000	0.56530	0.528000	0.53228	GTG	RANBP6	-	superfamily_ARM-type_fold		0.408	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	A	NM_012416		6013473	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6013473	A	G	6013473	3	3	131	1	0	0	0	0	1	0	0	0	13061	159	6	5	1186	5	RANBP6	9	6013473	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	608	6013473	135199958	1012	21152										
GLDC	2731	genome.wustl.edu	37	chr9	6588650	6588650	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgtgaacaagggaaatgtCtttattttccagtttcttca	8	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:6588650C>A	ENST00000321612.6	-	13	1783	c.1633G>T	c.(1633-1635)Gac>Tac	p.D545Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	545					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGGGAAATGTCTTTATTTTCC	0.418																																																	0													149	129	136					9																	6588650		2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1633G>T	9.37:g.6588650C>A	ENSP00000370737:p.Asp545Tyr		Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.D545Y	ENST00000321612.6	37	c.1633	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439863	0.83885	.	.	ENSG00000178445	ENST00000321612	D	0.98090	-4.71	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major domain (1);	0.089570	0.85682	D	0.000000	D	0.99010	0.9662	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.99453	1.0941	10	0.87932	D	0	-31.4459	20.0563	0.97651	0.0:1.0:0.0:0.0	.	545	P23378	GCSP_HUMAN	Y	545	ENSP00000370737:D545Y	ENSP00000370737:D545Y	D	-	1	0	GLDC	6578650	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.270000	0.78493	2.746000	0.94184	0.563000	0.77884	GAC	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo		0.418	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	C	NM_000170		6588650	-1	no_errors	ENST00000321612	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6588650	C	A	6588650	3	1	131	1	0	0	0	0	1	0	0	0	6452	913	32	3	1481	3	GLDC	9	6588650	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	575177	6588650	134624781	1013	21153										
PTPRD	5789	genome.wustl.edu	37	chr9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaaaagtccccaaatgtttCggggagagatccctgtgttg	11	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:8389318C>T	ENST00000381196.4	-	34	4843	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_ENST00000358503.5_Missense_Mutation_p.E1412K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1421K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1027K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1024K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1434K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1434K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1024K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1028K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)																																							0													178	170	173					9																	8389318		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4300G>A	9.37:g.8389318C>T	ENSP00000370593:p.Glu1434Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E1434K	ENST00000381196.4	37	c.4300	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.629974	0.96671	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0;0.996;1.0;1.0;1.0	P;P;P;P;D;P;D;D;D	0.85130	0.629;0.629;0.629;0.629;0.976;0.496;0.986;0.997;0.978	T	0.43376	-0.9395	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1027;1018;1027;1028;1024;1024;1421;1434;1434	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1434;1434;1421;1412;1028;1027;1024;1024;905;1434;1027;1027	ENSP00000370593:E1434K;ENSP00000348812:E1434K;ENSP00000353187:E1421K;ENSP00000351293:E1412K;ENSP00000347373:E1028K;ENSP00000380741:E1027K;ENSP00000380735:E1024K;ENSP00000440515:E1024K;ENSP00000438164:E1434K;ENSP00000417093:E1027K;ENSP00000380731:E1027K	.	E	-	1	0	PTPRD	8379318	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	GAA	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8389318	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8389318	C	T	8389318	3	4	131	1	0	0	0	0	1	0	0	0	12829	893	31	1	1478	1	PTPRD	9	8389318	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1800668	8389318	132824113	1014	21154										
C9orf93	203238	genome.wustl.edu	37	chr9	15728012	15728012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttgatgccctgattgcagAcctcaacagggctaatgaga	11	9	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:15728012A>G	ENST00000380701.3	+	15	2166	c.1838A>G	c.(1837-1839)gAc>gGc	p.D613G	CCDC171_ENST00000297641.3_Missense_Mutation_p.D613G	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	613																	CTGATTGCAGACCTCAACAGG	0.448																																																	0													129	109	115					9																	15728012		2203	4300	6503	SO:0001583	missense	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1838A>G	9.37:g.15728012A>G	ENSP00000370077:p.Asp613Gly		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.D613G	ENST00000380701.3	37	c.1838	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692878	0.68271	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.61392	0.11;0.11	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.65734	-0.6096	10	0.39692	T	0.17	-15.0975	16.075	0.80962	1.0:0.0:0.0:0.0	.	621;613;613	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	G	613	ENSP00000297641:D613G;ENSP00000370077:D613G	ENSP00000297641:D613G	D	+	2	0	C9orf93	15718012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.164000	0.89661	2.195000	0.70347	0.533000	0.62120	GAC	CCDC171	-	superfamily_STAT_TF_coiled-coil		0.448	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	A	NM_173550		15728012	1	no_errors	ENST00000380701	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15728012	A	G	15728012	3	3	131	1	0	0	0	0	1	0	0	0	2511	275	10	5	1892	5	C9orf93	9	15728012	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	7338694	15728012	125485419	1015	21155										
BNC2	54796	genome.wustl.edu	37	chr9	16552656	16552656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttagccgcacaggcactgCttgtgtcccatagagcatca	9	13	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:16552656C>T	ENST00000380672.4	-	5	598	c.541G>A	c.(541-543)Gca>Aca	p.A181T	BNC2_ENST00000545497.1_Missense_Mutation_p.A86T|BNC2_ENST00000380666.2_Missense_Mutation_p.A181T|BNC2_ENST00000380667.2_Missense_Mutation_p.A114T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGCACTGCTTGTGTCCCA	0.567																																																	0													137	104	115					9																	16552656		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.541G>A	9.37:g.16552656C>T	ENSP00000370047:p.Ala181Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A181T	ENST00000380672.4	37	c.541	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647308	0.87958	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03745	3.82;3.82;3.82;3.82;3.82	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.996;1.0;0.993;0.999	D;D;D;D;D;D;D	0.91635	0.998;0.938;0.994;0.993;0.999;0.977;0.969	T	0.00020	-1.2357	10	0.87932	D	0	-14.6429	20.4366	0.99092	0.0:1.0:0.0:0.0	.	86;114;218;181;7;139;181	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	T	181;138;218;209;114;86;7;181;181	ENSP00000370047:A181T;ENSP00000408370:A138T;ENSP00000370042:A114T;ENSP00000444640:A86T;ENSP00000370041:A181T	ENSP00000370041:A181T	A	-	1	0	BNC2	16542656	1.000000	0.71417	0.935000	0.37517	0.135000	0.20990	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GCA	BNC2	-	NULL		0.567	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16552656	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16552656	C	T	16552656	3	4	131	1	0	0	0	0	1	0	0	0	1476	797	28	4	2770	4	BNC2	9	16552656	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	824644	16552656	124660775	1016	21156										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18574115	18574115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggccagttttatgaatggCttcctgtgtctaatgaccct	9	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:18574115C>T	ENST00000380548.4	+	4	664	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L109F|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.L109F|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L109F|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L109F|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.L109F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	109						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTATGAATGGCTTCCTGTGTC	0.478																																																	0													165	147	153					9																	18574115		2203	4300	6503	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.325C>T	9.37:g.18574115C>T	ENSP00000369921:p.Leu109Phe		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L109F	ENST00000380548.4	37	c.325	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562759	0.86335	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.03607	3.87;7.34;7.34;7.34;7.34;7.34	5.25	5.25	0.73442	.	.	.	.	.	T	0.14743	0.0356	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.957	D;P	0.68765	0.96;0.779	T	0.00708	-1.1600	9	0.39692	T	0.17	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	109;109	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	F	109	ENSP00000369921:L109F;ENSP00000327887:L109F;ENSP00000401157:L109F;ENSP00000369944:L109F;ENSP00000369940:L109F;ENSP00000276935:L109F	ENSP00000276935:L109F	L	+	1	0	ADAMTSL1	18564115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.551000	0.60740	2.620000	0.88729	0.643000	0.83706	CTT	ADAMTSL1	-	NULL		0.478	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18574115	1	no_errors	ENST00000327883	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18574115	C	T	18574115	3	4	131	1	0	0	0	0	1	0	0	0	274	797	28	4	339	4	ADAMTSL1	9	18574115	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2021459	18574115	122639316	1017	21157										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18622252	18622252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttgttagattgttggctgCgatcaccagctgggaagcac	12	9	2	1	rs374475613		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																																	0								C	,	0,4406		0,0,2203	103	92	96		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	9.37:g.18622252C>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.C162	ENST00000380548.4	37	c.486	CCDS47954.1	9																																																																																			ADAMTSL1	-	prints_Peptidase_M12B_ADAM-TS		0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18622252	1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	0.970	T	T	18622252	C	T	18622252	2	4	131	1	0	0	0	0	0	0	0	1	274	776	27	2		2	ADAMTSL1	9	18622252	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	48137	18622252	122591179	1018	21158										
HAUS6	54801	genome.wustl.edu	37	chr9	19086756	19086756	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaattttttcttccatattActgtggtcatcatagggttc	7	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19086756A>G	ENST00000380502.3	-	7	1142	c.675T>C	c.(673-675)agT>agC	p.S225S	HAUS6_ENST00000380496.1_Silent_p.S89S|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	225					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCCATATTACTGTGGTCAT	0.274																																																	0													40	42	41					9																	19086756		2191	4292	6483	SO:0001819	synonymous_variant	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.675T>C	9.37:g.19086756A>G			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	NULL	p.S225	ENST00000380502.3	37	c.675	CCDS6489.1	9																																																																																			HAUS6	-	NULL		0.274	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	A	NM_017645		19086756	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	silent	SNP	0.075	G	G	19086756	A	G	19086756	2	3	131	1	0	0	0	0	0	0	0	1	6990	388	14	5		5	HAUS6	9	19086756	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	464504	19086756	122126675	1019	21159										
HAUS6	54801	genome.wustl.edu	37	chr9	19096727	19096727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaaacaaaaaataagaaaTtatatgaaaggcatcacggt	7	4	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19096727T>G	ENST00000380502.3	-	2	636	c.169A>C	c.(169-171)Att>Ctt	p.I57L		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	57					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATAAGAAATTATATGAAAG	0.284																																																	0													48	53	51					9																	19096727		2203	4298	6501	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.169A>C	9.37:g.19096727T>G	ENSP00000369871:p.Ile57Leu		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.I57L	ENST00000380502.3	37	c.169	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094106	0.56075	.	.	ENSG00000147874	ENST00000380502	T	0.23754	1.89	5.25	4.36	0.52297	.	0.055862	0.64402	D	0.000001	T	0.14527	0.0351	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04140	-1.0974	10	0.48119	T	0.1	-9.9312	13.2482	0.60036	0.0:0.9218:0.0:0.0782	.	57	Q7Z4H7	HAUS6_HUMAN	L	57	ENSP00000369871:I57L	ENSP00000369871:I57L	I	-	1	0	HAUS6	19086727	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.664000	0.54525	1.343000	0.45638	-0.147000	0.13772	ATT	HAUS6	-	NULL		0.284	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	T	NM_017645		19096727	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19096727	T	G	19096727	3	3	131	1	0	0	0	0	1	0	0	0	6990	1493	52	5	2762	5	HAUS6	9	19096727	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	9971	19096727	122116704	1020	21160										
DENND4C	55667	genome.wustl.edu	37	chr9	19316628	19316628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctttgttagttcaccaaaAaactcaagaaggctcagcga	7	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19316628A>C	ENST00000380432.2	+	8	923	c.890A>C	c.(889-891)aAa>aCa	p.K297T	DENND4C_ENST00000602925.1_Missense_Mutation_p.K533T|DENND4C_ENST00000434457.2_Missense_Mutation_p.K533T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	297					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTCACCAAAAAACTCAAGAA	0.323																																																	0													80	86	84					9																	19316628		2202	4300	6502	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.890A>C	9.37:g.19316628A>C	ENSP00000369797:p.Lys297Thr		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K297T	ENST00000380432.2	37	c.890		9	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290801	0.23564	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.15	5.15	0.70609	.	0.360471	0.34291	N	0.004082	T	0.51924	0.1703	L	0.38838	1.175	0.80722	D	1	B	0.23185	0.081	B	0.20955	0.032	T	0.46965	-0.9153	9	0.23302	T	0.38	-21.8858	15.1295	0.72511	1.0:0.0:0.0:0.0	.	297	Q5VZ89	DEN4C_HUMAN	T	297	.	ENSP00000369802:K297T	K	+	2	0	DENND4C	19306628	0.987000	0.35691	1.000000	0.80357	0.988000	0.76386	2.472000	0.45136	2.162000	0.67917	0.477000	0.44152	AAA	DENND4C	-	NULL		0.323	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		A	NM_017925		19316628	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	0.999	C	C	19316628	A	C	19316628	3	2	131	1	0	0	0	0	1	0	0	0	4445	14	1	5	920	5	DENND4C	9	19316628	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	219901	19316628	121896803	1021	21161										
RPS6	6194	genome.wustl.edu	37	chr9	19378854	19378854	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggacacggccatgggtcaaGacaccctgcttcatggggaa	13	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19378854G>T	ENST00000380394.4	-	3	259	c.201C>A	c.(199-201)gtC>gtA	p.V67V	RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.V36V|RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.V36V|RPS6_ENST00000498815.1_5'Flank	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	67					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CATGGGTCAAGACACCCTGCT	0.478																																																	0													37	35	36					9																	19378854		2203	4300	6503	SO:0001819	synonymous_variant	6194				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"S ribosomal proteins"	10429	protein-coding gene	gene with protein product	"40S ribosomal protein S6", "phosphoprotein NP33"	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.201C>A	9.37:g.19378854G>T			P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk	p.V67	ENST00000380394.4	37	c.201	CCDS6492.1	9																																																																																			RPS6	-	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk		0.478	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6	HGNC	protein_coding	OTTHUMT00000051858.1	G	NM_001010		19378854	-1	no_errors	ENST00000380394	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19378854	G	T	19378854	2	4	131	1	0	0	0	0	0	0	0	1	13679	929	33	3		3	RPS6	9	19378854	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	62226	19378854	121834577	1022	21162										
KIAA1797	54914	genome.wustl.edu	37	chr9	20740313	20740313	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaggacaaggtggggaaaaGaatattcagagtatatatac	12	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:20740313G>T	ENST00000380249.1	+	7	730	c.366G>T	c.(364-366)aaG>aaT	p.K122N	FOCAD_ENST00000338382.6_Missense_Mutation_p.K122N	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	122						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTGGGGAAAAGAATATTCAGA	0.294																																																	0													83	83	83					9																	20740313		2203	4298	6501	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.366G>T	9.37:g.20740313G>T	ENSP00000369599:p.Lys122Asn		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.K122N	ENST00000380249.1	37	c.366	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	6.306	0.424648	0.11928	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23552	1.9;1.9	5.43	2.46	0.29980	Domain of unknown function DUF3730 (1);	0.519679	0.20746	N	0.086458	T	0.12433	0.0302	N	0.12182	0.205	0.19575	N	0.999967	B	0.15141	0.012	B	0.14578	0.011	T	0.19224	-1.0312	10	0.36615	T	0.2	-11.9598	6.3311	0.21270	0.1565:0.0:0.6964:0.1471	.	122	Q5VW36	K1797_HUMAN	N	122	ENSP00000369599:K122N;ENSP00000344307:K122N	ENSP00000344307:K122N	K	+	3	2	KIAA1797	20730313	0.307000	0.24500	0.973000	0.42090	0.181000	0.23173	0.389000	0.20751	0.657000	0.30906	0.561000	0.74099	AAG	FOCAD	-	pfam_DUF3730,superfamily_ARM-type_fold		0.294	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794		20740313	1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	0.444	T	T	20740313	G	T	20740313	3	4	131	1	0	0	0	0	1	0	0	0	8278	933	33	3	380	3	KIAA1797	9	20740313	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1361459	20740313	120473118	1023	21163										
IFNA6	3443	genome.wustl.edu	37	chr9	21350317	21350317	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttctgtgttggatcaggtcTtattccttcctccttaacct	6	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:21350317T>G	ENST00000380210.1	-	1	1060	c.570A>C	c.(568-570)taA>taC	p.*190Y		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	0					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCAGGTCTTATTCCTTCC	0.428																																																	0													219	221	220					9																	21350317		2203	4300	6503	SO:0001578	stop_lost	3443				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"Interferons"	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.570A>C	9.37:g.21350317T>G			Q5VYQ1	Nonstop_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.*190Y	ENST00000380210.1	37	c.570	CCDS6504.1	9	.	.	.	.	.	.	.	.	.	.	T	4.093	0.015282	0.07959	.	.	ENSG00000120235	ENST00000380210	.	.	.	3.71	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0305	0.30461	0.0:0.0:0.2073:0.7927	.	.	.	.	Y	190	.	.	X	-	3	2	IFNA6	21340317	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	0.614000	0.24314	0.383000	0.24910	0.443000	0.29094	TAA	IFNA6	-	NULL		0.428	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA6	HGNC	protein_coding	OTTHUMT00000051905.1	T	NM_021002		21350317	-1	no_errors	ENST00000380210	ensembl	human	known	70_37	nonstop	SNP	0.019	G	G	21350317	T	G	21350317	4	3	131	1	0	0	0	0	0	0	0	0	7561	1624	56	5	1	5	IFNA6	9	21350317	Nonstop_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	610004	21350317	119863114	1024	21164										
ELAVL2	1993	genome.wustl.edu	37	chr9	23701536	23701536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggtttctggccatttaggCctttgatagcttcttctgcc	10	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:23701536C>T	ENST00000397312.2	-	5	828	c.554G>A	c.(553-555)gGc>gAc	p.G185D	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G185D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G185D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G185D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G214D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	185	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCATTTAGGCCTTTGATAGC	0.448																																																	0													224	228	227					9																	23701536		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.554G>A	9.37:g.23701536C>T	ENSP00000380479:p.Gly185Asp		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.G213D	ENST00000397312.2	37	c.638	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773365	0.49786	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	N	0.11724	0.165	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.19391	0.025;0.005	T	0.22382	-1.0218	10	0.17832	T	0.49	.	20.3241	0.98686	0.0:1.0:0.0:0.0	.	185;185	Q12926;Q12926-2	ELAV2_HUMAN;.	D	185;185;185;185;185;213;50;185	ENSP00000223951:G185D;ENSP00000380479:G185D;ENSP00000440998:G185D;ENSP00000369460:G185D;ENSP00000391757:G50D;ENSP00000412602:G185D	ENSP00000223951:G185D	G	-	2	0	ELAVL2	23691536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.812000	0.96745	0.563000	0.77884	GGC	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF		0.448	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	C	NM_004432		23701536	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23701536	C	T	23701536	3	4	131	1	0	0	0	0	1	0	0	0	5062	739	26	4	537	4	ELAVL2	9	23701536	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2351219	23701536	117511895	1025	21165										
TEK	7010	genome.wustl.edu	37	chr9	27183515	27183515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatcatatagaagtaaacagTggtaaatttaatcccatttg	7	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:27183515T>G	ENST00000380036.4	+	8	1531	c.1089T>G	c.(1087-1089)agT>agG	p.S363R	TEK_ENST00000406359.4_Missense_Mutation_p.S320R|TEK_ENST00000519097.1_Missense_Mutation_p.S216R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	363	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAGTAAACAGTGGTAAATTTA	0.428																																																	0													151	164	160					9																	27183515		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1089T>G	9.37:g.27183515T>G	ENSP00000369375:p.Ser363Arg		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S363R	ENST00000380036.4	37	c.1089	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668837	0.47677	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.73152	-0.71;-0.71;-0.72;2.94	5.52	3.18	0.36537	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.476330	0.19704	N	0.107969	T	0.72859	0.3513	L	0.47716	1.5	0.35753	D	0.819594	B;B;B;D	0.71674	0.232;0.005;0.395;0.998	B;B;B;D	0.65140	0.032;0.024;0.406;0.932	T	0.71066	-0.4700	10	0.17832	T	0.49	.	8.0003	0.30293	0.0:0.1625:0.0:0.8375	.	216;396;320;363	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	R	216;363;320;320;173	ENSP00000430686:S216R;ENSP00000369375:S363R;ENSP00000383977:S320R;ENSP00000428337:S173R	ENSP00000343716:S320R	S	+	3	2	TEK	27173515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.880000	0.28159	0.477000	0.27464	-0.250000	0.11733	AGT	TEK	-	pfscan_Ig-like		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	T			27183515	1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27183515	T	G	27183515	3	3	131	1	0	0	0	0	1	0	0	0	15781	1693	59	5	1119	5	TEK	9	27183515	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3481979	27183515	114029916	1026	21166										
LINGO2	158038	genome.wustl.edu	37	chr9	27949151	27949151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgttcgcataaagaaaacGatctgaagcgaatcctttca	7	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:27949151G>A	ENST00000379992.2	-	6	1968	c.1519C>T	c.(1519-1521)Cgt>Tgt	p.R507C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R507C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	507			R -> H (in dbSNP:rs17506843).			integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAAAGAAAACGATCTGAAGCG	0.463																																																	0													140	137	138					9																	27949151		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1519C>T	9.37:g.27949151G>A	ENSP00000369328:p.Arg507Cys		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R507C	ENST00000379992.2	37	c.1519	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789133	0.49997	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.59364	0.27;0.27	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.42539	0.1207	N	0.08118	0	0.58432	D	0.999999	P	0.51933	0.949	P	0.46339	0.513	T	0.35276	-0.9795	9	.	.	.	.	14.9014	0.70681	0.0:0.0:0.8568:0.1432	.	507	Q7L985	LIGO2_HUMAN	C	507	ENSP00000369328:R507C;ENSP00000310126:R507C	.	R	-	1	0	LINGO2	27939151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.081000	0.57627	2.769000	0.95229	0.655000	0.94253	CGT	LINGO2	-	NULL		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	G	NM_152570		27949151	-1	no_errors	ENST00000308675	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27949151	G	A	27949151	3	1	131	1	0	0	0	0	1	0	0	0	8836	1058	37	1	305	1	LINGO2	9	27949151	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	765636	27949151	113264280	1027	21167										
TAF1L	138474	genome.wustl.edu	37	chr9	32630671	32630671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctttagctgtacaaataTccttctcaagttgagtcaaa	5	9	3	1	rs547706504		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:32630671T>C	ENST00000242310.4	-	1	4996	c.4907A>G	c.(4906-4908)gAt>gGt	p.D1636G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1636					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGTACAAATATCCTTCTCAAG	0.448																																																	0													145	142	143					9																	32630671		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4907A>G	9.37:g.32630671T>C	ENSP00000418379:p.Asp1636Gly		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D1636G	ENST00000242310.4	37	c.4907	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953391	0.53293	.	.	ENSG00000122728	ENST00000242310	T	0.44482	0.92	0.479	0.479	0.16796	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.62723	1.935	0.53005	D	0.999966	D	0.57899	0.981	P	0.55923	0.787	T	0.43245	-0.9403	10	0.66056	D	0.02	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1636	Q8IZX4	TAF1L_HUMAN	G	1636	ENSP00000418379:D1636G	ENSP00000418379:D1636G	D	-	2	0	TAF1L	32620671	1.000000	0.71417	0.995000	0.50966	0.674000	0.39518	4.845000	0.62853	0.426000	0.26116	0.164000	0.16699	GAT	TAF1L	-	pirsf_TAF1_animal,superfamily_Bromodomain		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	T			32630671	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32630671	T	C	32630671	3	2	131	1	0	0	0	0	1	0	0	0	15553	1435	50	5	577	5	TAF1L	9	32630671	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4681520	32630671	108582760	1028	21168										
TAF1L	138474	genome.wustl.edu	37	chr9	32633243	32633243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgaatgatcagaaaatcagTttctggcatcttatgaagat	8	7	4	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:32633243T>G	ENST00000242310.4	-	1	2424	c.2335A>C	c.(2335-2337)Act>Cct	p.T779P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	779					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAAAATCAGTTTCTGGCATC	0.443																																																	0													199	195	197					9																	32633243		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2335A>C	9.37:g.32633243T>G	ENSP00000418379:p.Thr779Pro		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T779P	ENST00000242310.4	37	c.2335	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	T	7.764	0.705961	0.15172	.	.	ENSG00000122728	ENST00000242310	T	0.25749	1.78	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.193313	0.53938	D	0.000043	T	0.51890	0.1701	M	0.94101	3.495	0.37639	D	0.921967	P	0.52577	0.954	D	0.63793	0.918	T	0.58177	-0.7682	10	0.87932	D	0	.	6.1457	0.20285	0.0:0.0:0.0:1.0	.	779	Q8IZX4	TAF1L_HUMAN	P	779	ENSP00000418379:T779P	ENSP00000418379:T779P	T	-	1	0	TAF1L	32623243	1.000000	0.71417	0.749000	0.31150	0.372000	0.29890	3.455000	0.52993	0.530000	0.28619	0.164000	0.16699	ACT	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	T			32633243	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32633243	T	G	32633243	3	3	131	1	0	0	0	0	1	0	0	0	15553	1725	60	5	3149	5	TAF1L	9	32633243	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2572	32633243	108580188	1029	21169										
NOL6	65083	genome.wustl.edu	37	chr9	33469506	33469506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgcctctcaccacgcggccGcagcaacagtgagggtttca	12	14	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:33469506G>A	ENST00000379471.2	-	5	805	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.R180W			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	240					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCACGCGGCCGCAGCAACAGT	0.602																																																	0													90	88	89					9																	33469506		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.718C>T	9.37:g.33469506G>A	ENSP00000368784:p.Arg240Trp		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.R240W	ENST00000379471.2	37	c.718		9	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291831	0.40594	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.59	2.62	0.31277	.	0.182926	0.44483	D	0.000457	T	0.51244	0.1663	L	0.33245	0.995	0.37912	D	0.93141	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;P;D	0.68353	0.957;0.928;0.928;0.888;0.957	T	0.50767	-0.8789	10	0.36615	T	0.2	.	9.3994	0.38424	0.0673:0.0:0.5577:0.375	.	180;240;240;240;240	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	W	240;240;240;240;180	ENSP00000313978:R240W;ENSP00000297990:R240W;ENSP00000368784:R240W;ENSP00000395915:R180W	ENSP00000297990:R240W	R	-	1	2	NOL6	33459506	0.977000	0.34250	0.999000	0.59377	0.593000	0.36681	0.825000	0.27393	0.673000	0.31224	-0.314000	0.08810	CGG	NOL6	-	pfam_Nrap		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	G	NM_022917		33469506	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	missense	SNP	0.998	A	A	33469506	G	A	33469506	3	1	131	1	0	0	0	0	1	0	0	0	10549	1086	38	2	2810	2	NOL6	9	33469506	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	836263	33469506	107743925	1030	21170										
KIF24	347240	genome.wustl.edu	37	chr9	34257873	34257873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaacatttgtcctctgacaAagccccaggggagctctgaa	10	11	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:34257873A>G	ENST00000402558.2	-	10	1756	c.1732T>C	c.(1732-1734)Ttg>Ctg	p.L578L	KIF24_ENST00000345050.2_Silent_p.L444L|KIF24_ENST00000379174.3_Silent_p.L444L|KIF24_ENST00000379166.2_Silent_p.L578L			Q5T7B8	KIF24_HUMAN	kinesin family member 24	578					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTCTGACAAAGCCCCAGGG	0.488																																																	0													85	90	88					9																	34257873		2203	4300	6503	SO:0001819	synonymous_variant	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1732T>C	9.37:g.34257873A>G			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L578	ENST00000402558.2	37	c.1732	CCDS6551.2	9																																																																																			KIF24	-	NULL		0.488	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	A			34257873	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	silent	SNP	0.420	G	G	34257873	A	G	34257873	2	3	131	1	0	0	0	0	0	0	0	1	8312	11	1	5		5	KIF24	9	34257873	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	788367	34257873	106955558	1031	21171										
C9orf131	138724	genome.wustl.edu	37	chr9	35043198	35043199	+	Frame_Shift_Ins	INS	-	-	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggaaccgccagcagcagagINSaaaaagccagctcttctggg							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35043198_35043199insA	ENST00000312292.5	+	2	619_620	c.572_573insA	c.(571-576)agaaaafs	p.RK191fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.RK118fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.RK143fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	191										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAGCAGCAGAGAAAAAGCCAGC	0.569																																																	0																																										SO:0001589	frameshift_variant	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.577dupA	9.37:g.35043203_35043203dupA	ENSP00000308279:p.Arg191fs		A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	NULL	p.S193fs	ENST00000312292.5	37	c.572_573	CCDS6572.2	9																																																																																			C9orf131	-	NULL		0.569	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	-	NM_203299		35043199	1	no_errors	ENST00000312292	ensembl	human	known	70_37	frame_shift_ins	INS	0.066:0.093	A	A	35043199	-	A	35043198	7	5	131	1	0	1	1	0	0	0	0	0	2462	942	33	0	594	0	C9orf131	9	35043198	Frame_Shift_Ins	INS	-	TCGA-FU-A3HZ-01A-11D-A20U-09	785325	35043198	106170233	1032	21172										
PIGO	84720	genome.wustl.edu	37	chr9	35089413	35089413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagaccatgagatgcctgCgaaggatggaggctgccaag	14	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35089413C>T	ENST00000378617.3	-	10	3498	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	PIGO_ENST00000341666.3_Missense_Mutation_p.R1035H|PIGO_ENST00000298004.5_Missense_Mutation_p.R618H|PIGO_ENST00000361778.2_Missense_Mutation_p.R618H	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	1035					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGATGCCTGCGAAGGATGGA	0.522																																																	0													76	74	75					9																	35089413		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.3104G>A	9.37:g.35089413C>T	ENSP00000367880:p.Arg1035His		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R1035H	ENST00000378617.3	37	c.3104	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.410698	0.96072	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.69	5.69	0.88448	.	0.099223	0.56097	D	0.000031	D	0.84220	0.5424	M	0.91038	3.17	0.35386	D	0.790371	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88567	0.3127	10	0.48119	T	0.1	-12.7378	19.8101	0.96543	0.0:1.0:0.0:0.0	.	618;1035	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	H	618;1035;1035;618	ENSP00000298004:R618H;ENSP00000367880:R1035H;ENSP00000339382:R1035H;ENSP00000354678:R618H	ENSP00000298004:R618H	R	-	2	0	PIGO	35079413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.524000	0.81866	2.696000	0.92011	0.655000	0.94253	CGC	PIGO	-	NULL		0.522	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	C	NM_032634		35089413	-1	no_errors	ENST00000341666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35089413	C	T	35089413	3	4	131	1	0	0	0	0	1	0	0	0	11918	768	27	2	173	2	PIGO	9	35089413	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	46215	35089413	106124018	1033	21173										
TPM2	7169	genome.wustl.edu	37	chr9	35685532	35685532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccttcatggcccggttttCgatgaccttcattcctctga	7	13	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35685532C>T	ENST00000360958.2	-	4	495	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	TPM2_ENST00000378292.3_Missense_Mutation_p.E131K|TPM2_ENST00000378300.5_Missense_Mutation_p.E131K|TPM2_ENST00000329305.2_Missense_Mutation_p.E131K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	131					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCGGTTTTCGATGACCTTC	0.567																																																	0													135	117	123					9																	35685532		2203	4300	6503	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.391G>A	9.37:g.35685532C>T	ENSP00000354219:p.Glu131Lys		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E131K	ENST00000360958.2	37	c.391	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975360	0.92919	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.99005	-5.32;-5.32;-5.32;-5.32	5.11	5.11	0.69529	.	.	.	.	.	D	0.99616	0.9860	H	0.98199	4.17	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.975;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.997;0.894;0.998;1.0;0.994	D	0.97629	1.0141	9	0.87932	D	0	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	131;131;131;131;131	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	K	131	ENSP00000367550:E131K;ENSP00000367542:E131K;ENSP00000367541:E131K;ENSP00000354219:E131K	ENSP00000367541:E131K	E	-	1	0	TPM2	35675532	1.000000	0.71417	0.958000	0.39756	0.942000	0.58702	7.647000	0.83462	2.654000	0.90174	0.561000	0.74099	GAA	TPM2	-	pfam_Tropomyosin,prints_Tropomyosin		0.567	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	C	NM_003289		35685532	-1	no_errors	ENST00000378300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35685532	C	T	35685532	3	4	131	1	0	0	0	0	1	0	0	0	16437	893	31	1	654	1	TPM2	9	35685532	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	596119	35685532	105527899	1034	21174										
PGM5	5239	genome.wustl.edu	37	chr9	70999424	70999424	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatctcgactaggaagacaaGaatttgacctagaaaacaaa	7	7	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:70999424G>T	ENST00000396396.1	+	3	764	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	PGM5_ENST00000396392.1_Nonsense_Mutation_p.E179*|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	179					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AGGAAGACAAGAATTTGACCT	0.388																																																	0													82	78	80					9																	70999424		2203	4299	6502	SO:0001587	stop_gained	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.535G>T	9.37:g.70999424G>T	ENSP00000379678:p.Glu179*		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.E179*	ENST00000396396.1	37	c.535	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	38	6.675257	0.97755	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	.	.	.	4.46	4.46	0.54185	.	0.108214	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	16.2387	0.82394	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000379674:E179X	E	+	1	0	PGM5	70189244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.613000	0.74192	2.167000	0.68274	0.573000	0.79308	GAA	PGM5	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.388	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	G	NM_021965		70999424	1	no_errors	ENST00000396396	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70999424	G	T	70999424	4	4	131	1	0	0	0	0	0	1	0	0	11825	943	33	3	545	3	PGM5	9	70999424	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	35313892	70999424	70214007	1035	21175										
C9orf71	169693	genome.wustl.edu	37	chr9	71155719	71155719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcacagagaatgaggccagtTctgttctgcatccttgcacc	10	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:71155719T>G	ENST00000377311.3	-	1	64	c.12A>C	c.(10-12)agA>agC	p.R4S	RP11-274B18.4_ENST00000413269.3_lincRNA|RP11-274B18.2_ENST00000432148.1_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	4						integral component of membrane (GO:0016021)											TGAGGCCAGTTCTGTTCTGCA	0.557																																																	0													68	66	67					9																	71155719		2203	4300	6503	SO:0001583	missense	169693			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 71"	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.12A>C	9.37:g.71155719T>G	ENSP00000366528:p.Arg4Ser			Missense_Mutation	SNP	NULL	p.R4S	ENST00000377311.3	37	c.12	CCDS35040.1	9	.	.	.	.	.	.	.	.	.	.	T	11.86	1.766033	0.31228	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	0.329	0.15924	.	0.782010	0.12608	N	0.454153	T	0.35624	0.0938	M	0.67953	2.075	0.09310	N	1	P	0.34462	0.454	B	0.30316	0.114	T	0.29027	-1.0025	9	0.87932	D	0	-6.6983	6.207	0.20608	0.0:0.3618:0.2166:0.4215	.	4	Q8N6L7	CI071_HUMAN	S	4	.	ENSP00000366528:R4S	R	-	3	2	C9orf71	70345539	0.000000	0.05858	0.014000	0.15608	0.062000	0.15995	-0.428000	0.06991	0.127000	0.18452	0.533000	0.62120	AGA	TMEM252	-	NULL		0.557	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	T	NM_153237		71155719	-1	no_errors	ENST00000377311	ensembl	human	known	70_37	missense	SNP	0.000	G	G	71155719	T	G	71155719	3	3	131	1	0	0	0	0	1	0	0	0	2499	1780	62	5	508	5	C9orf71	9	71155719	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	156295	71155719	70057712	1036	21176										
TJP2	9414	genome.wustl.edu	37	chr9	71867734	71867734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttttaattaccacagatcGaaattgcccagaagcatcct	5	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:71867734G>A	ENST00000377245.4	+	22	3533	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	TJP2_ENST00000348208.4_Missense_Mutation_p.E962K|TJP2_ENST00000539225.1_Missense_Mutation_p.E1140K|TJP2_ENST00000535702.1_Missense_Mutation_p.E1076K|TJP2_ENST00000453658.2_Missense_Mutation_p.E939K	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1109					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACCACAGATCGAAATTGCCCA	0.493																																																	0													53	49	50					9																	71867734		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3325G>A	9.37:g.71867734G>A	ENSP00000366453:p.Glu1109Lys		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.E1140K	ENST00000377245.4	37	c.3418	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203997	0.79127	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.21543	2.91;2.0;2.91;2.52;2.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.69823	2.125	0.25605	N	0.986559	D;D;B;D;D	0.89917	1.0;1.0;0.001;0.999;0.997	D;D;B;D;P	0.91635	0.996;0.999;0.0;0.985;0.793	T	0.50566	-0.8813	10	0.06236	T	0.91	.	18.3907	0.90483	0.0:0.0:1.0:0.0	.	1140;1076;939;962;1109	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2	.;.;.;.;ZO2_HUMAN	K	939;1109;962;1076;1140	ENSP00000392178:E939K;ENSP00000366453:E1109K;ENSP00000345893:E962K;ENSP00000442090:E1076K;ENSP00000438262:E1140K	ENSP00000345893:E962K	E	+	1	0	TJP2	71057554	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	9.178000	0.94855	2.319000	0.78375	0.455000	0.32223	GAA	TJP2	-	NULL		0.493	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71867734	1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71867734	G	A	71867734	3	1	131	1	0	0	0	0	1	0	0	0	15960	1059	37	1	3670	1	TJP2	9	71867734	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	712015	71867734	69345697	1037	21177										
TRPM3	80036	genome.wustl.edu	37	chr9	73461494	73461494	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatcaggttttgtatcaaaaGatactcgcacatactggaag	9	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:73461494G>T	ENST00000377111.2	-	4	719	c.476C>A	c.(475-477)tCt>tAt	p.S159Y	TRPM3_ENST00000377110.3_Missense_Mutation_p.S159Y|TRPM3_ENST00000377105.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000408909.2_Missense_Mutation_p.S6Y|TRPM3_ENST00000396285.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000360823.2_Missense_Mutation_p.S6Y|TRPM3_ENST00000396280.5_Missense_Mutation_p.S6Y|TRPM3_ENST00000377097.3_Missense_Mutation_p.S6Y|TRPM3_ENST00000396283.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000361823.5_Missense_Mutation_p.S6Y|TRPM3_ENST00000377101.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000357533.2_Missense_Mutation_p.S161Y|TRPM3_ENST00000358082.3_Missense_Mutation_p.S6Y|TRPM3_ENST00000396292.4_Missense_Mutation_p.S6Y|TRPM3_ENST00000423814.3_Missense_Mutation_p.S161Y|TRPM3_ENST00000377106.1_Missense_Mutation_p.S6Y	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	159					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTATCAAAAGATACTCGCAC	0.458																																																	0													75	70	72					9																	73461494		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.476C>A	9.37:g.73461494G>T	ENSP00000366315:p.Ser159Tyr		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S161Y	ENST00000377111.2	37	c.482		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.805250|4.805250	0.90623|0.90623	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.06218	.|3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37404|0.37404	0.1002|0.1002	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|0.972;0.999;0.997;0.998;0.999;0.997;1.0;0.998;0.997	.|P;D;D;D;D;D;D;D;D	.|0.80764	.|0.832;0.981;0.94;0.967;0.94;0.994;0.971;0.928;0.994	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.87932	.|D	.|0	-3.2715|-3.2715	20.5211|20.5211	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|159;161;6;159;159;159;161;6;6	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.	I|Y	49|159;159;6;6;6;161;6;6;6;6;161;6;6;6;6	.|ENSP00000366315:S159Y;ENSP00000366314:S159Y;ENSP00000366310:S6Y;ENSP00000354066:S6Y;ENSP00000366309:S6Y;ENSP00000350140:S161Y;ENSP00000386127:S6Y;ENSP00000379581:S6Y;ENSP00000379587:S6Y;ENSP00000350791:S6Y;ENSP00000389542:S161Y;ENSP00000366305:S6Y;ENSP00000379579:S6Y;ENSP00000355395:S6Y	.|ENSP00000350140:S161Y	L|S	-|-	1|2	0|0	TRPM3|TRPM3	72651314|72651314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.767000|9.767000	0.98960|0.98960	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	CTT|TCT	TRPM3	-	NULL		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	G	NM_206945		73461494	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73461494	G	T	73461494	3	4	131	1	0	0	0	0	1	0	0	0	16618	942	33	3	4858	3	TRPM3	9	73461494	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1593760	73461494	67751937	1038	21178										
VPS13A	23230	genome.wustl.edu	37	chr9	79875040	79875040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttacctcttatttctttacGaatctcagataaaaaactac	3	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:79875040G>A	ENST00000360280.3	+	23	2587	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.R776Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R776Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R776Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	776					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTCTTTACGAATCTCAGAT	0.303																																																	0													46	46	46					9																	79875040		2203	4297	6500	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2327G>A	9.37:g.79875040G>A	ENSP00000353422:p.Arg776Gln		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.R776Q	ENST00000360280.3	37	c.2327	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084933	0.36758	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.47	2.51	0.30379	.	0.420138	0.24472	N	0.038235	T	0.23846	0.0577	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.23058	0.013;0.047;0.079;0.079	B;B;B;B	0.16722	0.002;0.004;0.016;0.01	T	0.05225	-1.0898	10	0.28530	T	0.3	.	4.3397	0.11105	0.3045:0.0:0.5424:0.1531	.	776;776;776;776	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	776	ENSP00000365821:R776Q;ENSP00000365823:R776Q;ENSP00000353422:R776Q;ENSP00000349985:R776Q	ENSP00000349985:R776Q	R	+	2	0	VPS13A	79064860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.189000	0.32114	0.631000	0.30412	0.591000	0.81541	CGA	VPS13A	-	NULL		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79875040	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	0.996	A	A	79875040	G	A	79875040	3	1	131	1	0	0	0	0	1	0	0	0	17220	1058	37	1	2417	1	VPS13A	9	79875040	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	6413546	79875040	61338391	1039	21179										
VPS13A	23230	genome.wustl.edu	37	chr9	79999526	79999526	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaattctacagggagtggaTtatgactcacagtagcagta	10	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:79999526T>G	ENST00000360280.3	+	68	9449				VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_Missense_Mutation_p.I3072S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGAGTGGATTATGACTCAC	0.338																																																	0													188	185	186					9																	79999526		2203	4299	6502	SO:0001627	intron_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9189+2523T>G	9.37:g.79999526T>G			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.I3072S	ENST00000360280.3	37	c.9215	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922778	0.33908	.	.	ENSG00000197969	ENST00000357409	T	0.41400	1.0	5.63	3.09	0.35607	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.08659	-1.0711	7	.	.	.	.	2.1757	0.03862	0.1695:0.0891:0.1545:0.5869	.	3072	Q96RL7-2	.	S	3072	ENSP00000349985:I3072S	.	I	+	2	0	VPS13A	79189346	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.360000	0.34125	1.027000	0.39758	-0.438000	0.05819	ATT	VPS13A	-	NULL		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	T	NM_015186		79999526	1	no_errors	ENST00000357409	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79999526	T	G	79999526	1	3	131	0	1	0	0	0	0	0	0	0	17220	1493	52	5		5	VPS13A	9	79999526	Intron	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	124486	79999526	61213905	1040	21180										
FLJ46321	389763	genome.wustl.edu	37	chr9	84609736	84609736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccagaagtgcatgtcagaGcagagcctgtccagggctgt	13	11	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:84609736G>A	ENST00000344803.2	+	4	4398	c.4351G>A	c.(4351-4353)Gca>Aca	p.A1451T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1451					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCATGTCAGAGCAGAGCCTGT	0.552																																																	0													44	44	44					9																	84609736		1941	4131	6072	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4351G>A	9.37:g.84609736G>A	ENSP00000341988:p.Ala1451Thr			Missense_Mutation	SNP	NULL	p.A1451T	ENST00000344803.2	37	c.4351	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541531	0.27563	.	.	ENSG00000214929	ENST00000344803	T	0.05925	3.37	2.91	-0.184	0.13280	.	.	.	.	.	T	0.06962	0.0177	N	0.12182	0.205	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.32322	-0.9911	9	0.51188	T	0.08	-0.0639	2.9736	0.05930	0.2891:0.2401:0.4708:0.0	.	1451	Q6ZQQ2	F75D1_HUMAN	T	1451	ENSP00000341988:A1451T	ENSP00000341988:A1451T	A	+	1	0	FAM75D1	83799556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.514000	0.06298	-0.038000	0.13624	0.655000	0.94253	GCA	SPATA31D1	-	NULL		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84609736	1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	A	A	84609736	G	A	84609736	3	1	131	1	0	0	0	0	1	0	0	0	5950	971	34	4	4365	4	FLJ46321	9	84609736	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4610210	84609736	56603695	1041	21181										
ZCCHC6	79670	genome.wustl.edu	37	chr9	88934520	88934520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaaagtcctgtcttatgaAactttctaggttttgccgaa	9	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:88934520A>C	ENST00000375963.3	-	15	3266	c.3094T>G	c.(3094-3096)Ttc>Gtc	p.F1032V	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.F321V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F1032V|ZCCHC6_ENST00000375957.1_5'UTR|ZCCHC6_ENST00000375960.2_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1032					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGTCTTATGAAACTTTCTAGG	0.299																																																	0													56	54	55					9																	88934520		2202	4300	6502	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3094T>G	9.37:g.88934520A>C	ENSP00000365130:p.Phe1032Val		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F1032V	ENST00000375963.3	37	c.3094	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308306	0.81247	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	T;T;T	0.37584	1.19;1.19;1.19	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	L	0.31664	0.95	0.54753	D	0.999982	B	0.28998	0.23	B	0.27076	0.076	T	0.05852	-1.0860	10	0.31617	T	0.26	-33.4032	15.0819	0.72122	1.0:0.0:0.0:0.0	.	1032	Q5VYS8	TUT7_HUMAN	V	321;1032;1032	ENSP00000277141:F321V;ENSP00000365128:F1032V;ENSP00000365130:F1032V	ENSP00000277141:F321V	F	-	1	0	ZCCHC6	88124340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.169000	0.77578	2.214000	0.71695	0.528000	0.53228	TTC	ZCCHC6	-	NULL		0.299	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	A	NM_024617		88934520	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88934520	A	C	88934520	3	2	131	1	0	0	0	0	1	0	0	0	17622	14	1	5	1445	5	ZCCHC6	9	88934520	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	4324784	88934520	52278911	1042	21182										
ZNF484	83744	genome.wustl.edu	37	chr9	95609789	95609789	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaattctttcatgtgtgataAaatgtgacttccggataaag	9	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:95609789A>C	ENST00000375495.3	-	5	1428	c.1280T>G	c.(1279-1281)tTt>tGt	p.F427C	ZNF484_ENST00000395505.2_Missense_Mutation_p.F391C|ZNF484_ENST00000395506.3_Missense_Mutation_p.F429C|ZNF484_ENST00000332591.6_Missense_Mutation_p.F391C|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATGTGTGATAAAATGTGACTT	0.373																																																	0													74	76	75					9																	95609789		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1280T>G	9.37:g.95609789A>C	ENSP00000364645:p.Phe427Cys		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F429C	ENST00000375495.3	37	c.1286	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860068	0.51482	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	L	0.33668	1.02	0.27013	N	0.964652	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05500	-1.0881	9	0.87932	D	0	.	8.6465	0.34009	1.0:0.0:0.0:0.0	.	429;427	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	391;429;427;391	ENSP00000378881:F391C;ENSP00000378882:F429C;ENSP00000364645:F427C;ENSP00000364646:F391C	ENSP00000364646:F391C	F	-	2	0	ZNF484	94649610	0.864000	0.29904	1.000000	0.80357	0.993000	0.82548	5.855000	0.69510	1.352000	0.45808	0.446000	0.29264	TTT	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	A	XM_046861		95609789	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.809	C	C	95609789	A	C	95609789	3	2	131	1	0	0	0	0	1	0	0	0	17967	14	1	5	1282	5	ZNF484	9	95609789	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	6675269	95609789	45603642	1043	21183										
ZNF189	7743	genome.wustl.edu	37	chr9	104171026	104171026	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgaatgtgggaaagcctttCgattaagcacataccttata	9	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:104171026C>T	ENST00000339664.2	+	3	1105	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ZNF189_ENST00000374861.3_Nonsense_Mutation_p.R312*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398																																																	0													91	96	94					9																	104171026		2203	4300	6503	SO:0001587	stop_gained	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.976C>T	9.37:g.104171026C>T	ENSP00000342019:p.Arg326*		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R326*	ENST00000339664.2	37	c.976	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518361	0.85495	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.79	3.66	0.41972	.	0.000000	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.3015	0.43654	0.8251:0.1749:0.0:0.0	.	.	.	.	X	312;326;284	.	ENSP00000259395:R284X	R	+	1	2	ZNF189	103210847	0.255000	0.24002	1.000000	0.80357	0.990000	0.78478	1.609000	0.36858	1.162000	0.42619	-0.262000	0.10625	CGA	ZNF189	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	C	NM_003452		104171026	1	no_errors	ENST00000339664	ensembl	human	known	70_37	nonsense	SNP	0.970	T	T	104171026	C	T	104171026	4	4	131	1	0	0	0	0	0	1	0	0	17784	876	31	1	986	1	ZNF189	9	104171026	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	8561237	104171026	37042405	1044	21184										
SMC2	10592	genome.wustl.edu	37	chr9	106887246	106887246	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatccaaagaaaagcagaaGaaaaatatgaagtattggaa	8	3	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:106887246G>T	ENST00000286398.7	+	18	2599	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	SMC2_ENST00000374787.3_Nonsense_Mutation_p.E771*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E771*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E771*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	771					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAAAGCAGAAGAAAAATATGA	0.343																																																	0													47	50	49					9																	106887246		2203	4299	6502	SO:0001587	stop_gained	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2311G>T	9.37:g.106887246G>T	ENSP00000286398:p.Glu771*		Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E771*	ENST00000286398.7	37	c.2311	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.579950	0.99210	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-26.7444	11.8931	0.52641	0.0842:0.0:0.9158:0.0	.	.	.	.	X	771	.	ENSP00000286398:E771X	E	+	1	0	SMC2	105927067	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.506000	0.73712	2.818000	0.97014	0.591000	0.81541	GAA	SMC2	-	NULL		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	G			106887246	1	no_errors	ENST00000286398	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	106887246	G	T	106887246	4	4	131	1	0	0	0	0	0	1	0	0	14813	943	33	3	2377	3	SMC2	9	106887246	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2716220	106887246	34326185	1045	21185										
OR13C3	138803	genome.wustl.edu	37	chr9	107298510	107298510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttattcccacagaaaggcagTctcatggcaagtaatgtttg	9	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:107298510T>C	ENST00000374781.2	-	1	627	c.585A>G	c.(583-585)agA>agG	p.R195R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGAAAGGCAGTCTCATGGCAA	0.438																																					GBM(86;1248 1274 14222 15028 46219)												0													132	131	131					9																	107298510		2203	4300	6503	SO:0001819	synonymous_variant	138803				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.585A>G	9.37:g.107298510T>C			Q5VVG1|Q6IF52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R195	ENST00000374781.2	37	c.585	CCDS35089.1	9																																																																																			OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	T			107298510	-1	no_errors	ENST00000374781	ensembl	human	known	70_37	silent	SNP	0.000	C	C	107298510	T	C	107298510	2	2	131	1	0	0	0	0	0	0	0	1	10959	1664	58	5		5	OR13C3	9	107298510	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	411264	107298510	33914921	1046	21186										
ACTL7B	10880	genome.wustl.edu	37	chr9	111617835	111617835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtactcccagatgtcctgcaCgcagtcccagtccaccacga	8	17	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:111617835C>T	ENST00000374667.3	-	1	1404	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	126						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGTCCTGCACGCAGTCCCAG	0.627																																																	0													70	54	59					9																	111617835		2203	4300	6503	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.376G>A	9.37:g.111617835C>T	ENSP00000363799:p.Val126Met		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.V126M	ENST00000374667.3	37	c.376	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335922	0.11013	.	.	ENSG00000148156	ENST00000374667	D	0.96774	-4.12	4.17	2.28	0.28536	.	0.243552	0.21019	N	0.081549	D	0.87067	0.6085	N	0.02403	-0.565	0.28010	N	0.934943	B	0.23128	0.08	B	0.24974	0.057	T	0.81366	-0.0965	10	0.87932	D	0	.	5.8483	0.18679	0.0:0.6569:0.0:0.3431	.	126	Q9Y614	ACL7B_HUMAN	M	126	ENSP00000363799:V126M	ENSP00000363799:V126M	V	-	1	0	ACTL7B	110657656	0.617000	0.27043	0.994000	0.49952	0.992000	0.81027	0.917000	0.28665	0.493000	0.27837	0.655000	0.94253	GTG	ACTL7B	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.627	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617835	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111617835	C	T	111617835	3	4	131	1	0	0	0	0	1	0	0	0	201	536	19	2	875	2	ACTL7B	9	111617835	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4319325	111617835	29595596	1047	21187										
SVEP1	79987	genome.wustl.edu	37	chr9	113169315	113169315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccttcattgcaagtgtattcAatctctttttggaatgtgta	7	7	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:113169315A>C	ENST00000401783.2	-	38	8901	c.8565T>G	c.(8563-8565)atT>atG	p.I2855M	SVEP1_ENST00000374469.1_Missense_Mutation_p.I2832M|SVEP1_ENST00000297826.5_Missense_Mutation_p.I781M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2855	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGTGTATTCAATCTCTTTTT	0.522																																																	0													68	72	70					9																	113169315		2042	4184	6226	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8565T>G	9.37:g.113169315A>C	ENSP00000384917:p.Ile2855Met		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.I2855M	ENST00000401783.2	37	c.8565	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	13.47	2.248081	0.39697	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.68479	-0.33;-0.33;-0.33	5.58	3.1	0.35709	Complement control module (2);Sushi/SCR/CCP (3);	0.386774	0.28470	N	0.015222	T	0.73369	0.3578	M	0.80332	2.49	0.40861	D	0.983836	P	0.47841	0.901	P	0.51742	0.678	T	0.73767	-0.3879	10	0.72032	D	0.01	.	8.0295	0.30457	0.625:0.2435:0.0:0.1315	.	2855	Q4LDE5	SVEP1_HUMAN	M	2855;2832;781	ENSP00000384917:I2855M;ENSP00000363593:I2832M;ENSP00000297826:I781M	ENSP00000297826:I781M	I	-	3	3	SVEP1	112209136	0.016000	0.18221	0.984000	0.44739	0.988000	0.76386	-0.179000	0.09768	0.426000	0.26116	0.482000	0.46254	ATT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.522	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		A			113169315	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.564	C	C	113169315	A	C	113169315	3	2	131	1	0	0	0	0	1	0	0	0	15450	126	5	5	2194	5	SVEP1	9	113169315	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1551480	113169315	28044116	1048	21188										
PTGR1	22949	genome.wustl.edu	37	chr9	114359674	114359674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatagccaacaaagtgcttcTtcagggtccatgtcttagta	9	9	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:114359674T>G	ENST00000407693.2	-	2	291	c.29A>C	c.(28-30)aAg>aCg	p.K10T	PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000538962.1_Missense_Mutation_p.K10T|PTGR1_ENST00000309195.5_Missense_Mutation_p.K10T	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	10					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						AAAGTGCTTCTTCAGGGTCCA	0.403																																					Ovarian(200;132 2151 7551 19220 46064)												0													105	91	96					9																	114359674		2203	4300	6503	SO:0001583	missense	22949			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.29A>C	9.37:g.114359674T>G	ENSP00000385763:p.Lys10Thr		A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	p.K10T	ENST00000407693.2	37	c.29	CCDS6779.1	9	.	.	.	.	.	.	.	.	.	.	T	9.037	0.988830	0.18966	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.62	4.62	0.57501	GroES-like (1);	0.238800	0.45361	D	0.000372	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	B;B;B	0.22211	0.027;0.036;0.066	B;B;B	0.29176	0.099;0.059;0.022	T	0.44174	-0.9345	10	0.49607	T	0.09	-18.323	12.2191	0.54423	0.0:0.0:0.0:1.0	.	10;10;10	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	T	10	ENSP00000440281:K10T;ENSP00000311572:K10T;ENSP00000385763:K10T;ENSP00000395965:K10T	ENSP00000311572:K10T	K	-	2	0	PTGR1	113399495	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	2.579000	0.46059	2.020000	0.59435	0.374000	0.22700	AAG	PTGR1	-	superfamily_GroES-like,tigrfam_B4_12hDH		0.403	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR1	HGNC	protein_coding	OTTHUMT00000053647.2	T			114359674	-1	no_errors	ENST00000309195	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114359674	T	G	114359674	3	3	131	1	0	0	0	0	1	0	0	0	12781	1609	56	5	1027	5	PTGR1	9	114359674	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1190359	114359674	26853757	1049	21189										
SUSD1	64420	genome.wustl.edu	37	chr9	114919845	114919845	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacagatcttcttcccttctCtttgctggcatgtggcatgt	8	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:114919845C>A	ENST00000374270.3	-	2	324	c.152G>T	c.(151-153)aGa>aTa	p.R51I	SUSD1_ENST00000374264.2_Missense_Mutation_p.R51I|SUSD1_ENST00000374263.3_Missense_Mutation_p.R51I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	51	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCCTTCTCTTTGCTGGCA	0.413																																																	0													157	128	137					9																	114919845		2203	4300	6503	SO:0001583	missense	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.152G>T	9.37:g.114919845C>A	ENSP00000363388:p.Arg51Ile		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.R51I	ENST00000374270.3	37	c.152	CCDS6783.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.630|9.630	1.136048|1.136048	0.21123|0.21123	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|D;D;D	.|0.87029	.|-2.2;-2.2;-2.2	5.75|5.75	-4.41|-4.41	0.03590|0.03590	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|1.207580	.|0.05965	.|N	.|0.641355	T|T	0.72882|0.72882	0.3516|0.3516	N|N	0.20881|0.20881	0.62|0.62	0.21220|0.21220	N|N	0.999752|0.999752	.|B;B;B	.|0.12630	.|0.006;0.006;0.002	.|B;B;B	.|0.10450	.|0.005;0.005;0.002	T|T	0.54289|0.54289	-0.8316|-0.8316	5|10	.|0.33141	.|T	.|0.24	0.5952|0.5952	0.9163|0.9163	0.01305|0.01305	0.2977:0.2508:0.0974:0.3541|0.2977:0.2508:0.0974:0.3541	.|.	.|51;51;51	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	N|I	34|51	.|ENSP00000363388:R51I;ENSP00000363381:R51I;ENSP00000363382:R51I	.|ENSP00000363381:R51I	K|R	-|-	3|2	2|0	SUSD1|SUSD1	113959666|113959666	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.401000|0.401000	0.30781|0.30781	-0.268000|-0.268000	0.08607|0.08607	-1.387000|-1.387000	0.02095|0.02095	-0.182000|-0.182000	0.12963|0.12963	AAG|AGA	SUSD1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.413	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	C	NM_022486		114919845	-1	no_errors	ENST00000374264	ensembl	human	known	70_37	missense	SNP	0.001	A	A	114919845	C	A	114919845	3	1	131	1	0	0	0	0	1	0	0	0	15437	913	32	3	2155	3	SUSD1	9	114919845	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	560171	114919845	26293586	1050	21190										
SLC46A2	57864	genome.wustl.edu	37	chr9	115652152	115652152	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgcttttccaggagatggAgggtgccccactgcatactg	12	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:115652152A>G	ENST00000374228.4	-	1	1041	c.810T>C	c.(808-810)ccT>ccC	p.P270P		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	270					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CAGGAGATGGAGGGTGCCCCA	0.562																																																	0													111	107	109					9																	115652152		2203	4300	6503	SO:0001819	synonymous_variant	57864			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.810T>C	9.37:g.115652152A>G			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.P270	ENST00000374228.4	37	c.810	CCDS6786.1	9																																																																																			SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.562	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	A	NM_033051		115652152	-1	no_errors	ENST00000374228	ensembl	human	known	70_37	silent	SNP	0.000	G	G	115652152	A	G	115652152	2	3	131	1	0	0	0	0	0	0	0	1	14675	291	11	5		5	SLC46A2	9	115652152	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	732307	115652152	25561279	1051	21191										
C9orf43	257169	genome.wustl.edu	37	chr9	116175787	116175787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctagctatggacttgccagAtgagagccagtgggacgaaa	13	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:116175787A>C	ENST00000288462.4	+	2	460	c.14A>C	c.(13-15)gAt>gCt	p.D5A	C9orf43_ENST00000490544.1_3'UTR|POLE3_ENST00000374171.4_5'Flank|C9orf43_ENST00000374165.1_Missense_Mutation_p.D5A	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	5										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GACTTGCCAGATGAGAGCCAG	0.502																																																	0													69	65	66					9																	116175787		2203	4300	6503	SO:0001583	missense	257169			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.14A>C	9.37:g.116175787A>C	ENSP00000288462:p.Asp5Ala			Missense_Mutation	SNP	NULL	p.D5A	ENST00000288462.4	37	c.14	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628539	0.67015	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.65549	-0.16;-0.16	5.46	5.46	0.80206	.	0.000000	0.45361	D	0.000363	T	0.70064	0.3181	L	0.34521	1.04	0.38794	D	0.955058	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	10	0.87932	D	0	-22.1264	13.7703	0.63021	1.0:0.0:0.0:0.0	.	5	Q8TAL5	CI043_HUMAN	A	5	ENSP00000363280:D5A;ENSP00000288462:D5A	ENSP00000288462:D5A	D	+	2	0	C9orf43	115215608	0.971000	0.33674	0.986000	0.45419	0.533000	0.34776	2.495000	0.45337	2.197000	0.70478	0.460000	0.39030	GAT	C9orf43	-	NULL		0.502	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	A	NM_152786		116175787	1	no_errors	ENST00000288462	ensembl	human	known	70_37	missense	SNP	0.954	C	C	116175787	A	C	116175787	3	2	131	1	0	0	0	0	1	0	0	0	2488	333	12	5	16	5	C9orf43	9	116175787	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	523635	116175787	25037644	1052	21192										
AKNA	80709	genome.wustl.edu	37	chr9	117120224	117120224	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggtggggcccaccgcctcGgtgcaaaggcttctgtggaa	15	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:117120224G>A	ENST00000307564.4	-	12	2877	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	AKNA_ENST00000374088.3_Nonsense_Mutation_p.R906*|AKNA_ENST00000374075.5_Nonsense_Mutation_p.R825*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.R366*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	906					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCGCCTCGGTGCAAAGGC	0.602																																																	0													55	54	55					9																	117120224		2203	4300	6503	SO:0001587	stop_gained	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2716C>T	9.37:g.117120224G>A	ENSP00000303769:p.Arg906*		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.R906*	ENST00000307564.4	37	c.2716	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.707505	0.98444	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000223791;ENST00000374075	.	.	.	3.79	3.79	0.43588	.	1.145020	0.06533	N	0.741865	.	.	.	.	.	.	0.38437	D	0.946607	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9054	11.4453	0.50120	0.0:0.0:1.0:0.0	.	.	.	.	X	906;906;366;825	.	ENSP00000223791:R366X	R	-	1	2	AKNA	116160045	0.143000	0.22626	0.004000	0.12327	0.033000	0.12548	4.394000	0.59671	2.420000	0.82092	0.442000	0.29010	CGA	AKNA	-	NULL		0.602	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	G	NM_030767		117120224	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	nonsense	SNP	0.004	A	A	117120224	G	A	117120224	4	1	131	1	0	0	0	0	0	1	0	0	463	1124	39	2	1647	2	AKNA	9	117120224	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	944437	117120224	24093207	1053	21193										
TNC	3371	genome.wustl.edu	37	chr9	117791732	117791732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccgtttttgcgtctcaggaAcacctataaacatatcgatg	7	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:117791732A>G	ENST00000350763.4	-	25	6487	c.6076T>C	c.(6076-6078)Ttc>Ctc	p.F2026L	TNC_ENST00000423613.2_Missense_Mutation_p.F1753L|TNC_ENST00000537320.1_Missense_Mutation_p.F1389L|TNC_ENST00000345230.3_Missense_Mutation_p.F1389L|TNC_ENST00000341037.4_Missense_Mutation_p.F1844L|TNC_ENST00000346706.3_Missense_Mutation_p.F1480L|TNC_ENST00000340094.3_Missense_Mutation_p.F1662L|TNC_ENST00000542877.1_Missense_Mutation_p.F1663L|TNC_ENST00000535648.1_Missense_Mutation_p.F1571L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2026	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGTCTCAGGAACACCTATAAA	0.483																																																	0													149	134	139					9																	117791732		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6076T>C	9.37:g.117791732A>G	ENSP00000265131:p.Phe2026Leu		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.F2026L	ENST00000350763.4	37	c.6076	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.164345|5.164345	0.94727|0.94727	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|D	0.20881|0.82433	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04|-1.61	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88209|0.88209	0.6375|0.6375	M|M	0.67517|0.67517	2.055|2.055	0.37273|0.37273	D|D	0.907472|0.907472	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.91287|0.91287	0.5056|0.5056	10|7	0.87932|0.87932	D|D	0|0	.|.	15.5612|15.5612	0.76249|0.76249	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1753;2026|.	E9PC84;P24821|.	.;TENA_HUMAN|.	L|A	1662;1571;1480;1389;2026;1844;1753;1389;1663|588	ENSP00000344400:F1662L;ENSP00000438152:F1571L;ENSP00000344555:F1480L;ENSP00000345861:F1389L;ENSP00000265131:F2026L;ENSP00000339553:F1844L;ENSP00000411406:F1753L;ENSP00000443478:F1389L;ENSP00000442242:F1663L|ENSP00000445380:V588A	ENSP00000344400:F1662L|ENSP00000445380:V588A	F|V	-|-	1|2	0|0	TNC|TNC	116831553|116831553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.826000|0.826000	0.46750|0.46750	8.807000|8.807000	0.91935|0.91935	2.090000|2.090000	0.63153|0.63153	0.533000|0.533000	0.62120|0.62120	TTC|GTT	TNC	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.483	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	A	NM_002160		117791732	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117791732	A	G	117791732	3	3	131	1	0	0	0	0	1	0	0	0	16300	43	2	5	545	5	TNC	9	117791732	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	671508	117791732	23421699	1054	21194										
PAPPA	5069	genome.wustl.edu	37	chr9	118997560	118997560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagttcctctaccccttggtCcctgagtctctgaccatttg	8	14	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:118997560C>T	ENST00000328252.3	+	7	2745	c.2376C>T	c.(2374-2376)gtC>gtT	p.V792V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	792					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCCCTTGGTCCCTGAGTCTC	0.552																																																	0													114	91	99					9																	118997560		2203	4300	6503	SO:0001819	synonymous_variant	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2376C>T	9.37:g.118997560C>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V792	ENST00000328252.3	37	c.2376	CCDS6813.1	9																																																																																			PAPPA	-	superfamily_Fibronectin_type3		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	C	NM_002581		118997560	1	no_errors	ENST00000328252	ensembl	human	known	70_37	silent	SNP	0.878	T	T	118997560	C	T	118997560	2	4	131	1	0	0	0	0	0	0	0	1	11456	842	30	1		1	PAPPA	9	118997560	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1205828	118997560	22215871	1055	21195										
TLR4	7099	genome.wustl.edu	37	chr9	120476131	120476131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtagtctagctttcttaaaTcttactcagaatgactttgc	6	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:120476131T>C	ENST00000355622.6	+	3	1826	c.1725T>C	c.(1723-1725)aaT>aaC	p.N575N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.N535N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	575					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTTTCTTAAATCTTACTCAGA	0.413																																																	0													75	66	69					9																	120476131		2203	4300	6503	SO:0001819	synonymous_variant	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1725T>C	9.37:g.120476131T>C			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.N575	ENST00000355622.6	37	c.1725	CCDS6818.1	9																																																																																			TLR4	-	pirsf_Toll-like_receptor		0.413	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	T	NM_138554		120476131	1	no_errors	ENST00000355622	ensembl	human	known	70_37	silent	SNP	0.999	C	C	120476131	T	C	120476131	2	2	131	1	0	0	0	0	0	0	0	1	15983	1432	50	5		5	TLR4	9	120476131	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1478571	120476131	20737300	1056	21196										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123216113	123216113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctctgtcaagaatagttgtCccagaagcagttcccgtacc	9	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:123216113C>T	ENST00000349780.4	-	21	2593	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G805E|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G805E|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G773E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	805					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAATAGTTGTCCCAGAAGCAG	0.458																																																	0													77	73	74					9																	123216113		2202	4299	6501	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2414G>A	9.37:g.123216113C>T	ENSP00000343818:p.Gly805Glu		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.G805E	ENST00000349780.4	37	c.2414	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.099695	0.00360	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.13901	4.24;4.0;4.1;4.0;2.55	5.66	0.918	0.19386	.	0.401777	0.23700	N	0.045428	T	0.03651	0.0104	N	0.02247	-0.625	0.19945	N	0.999942	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.002;0.001;0.001;0.003	T	0.44952	-0.9294	10	0.02654	T	1	.	7.6007	0.28075	0.0:0.3587:0.0:0.6413	.	574;805;805;199	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	E	773;805;805;805;199	ENSP00000354065:G773E;ENSP00000352258:G805E;ENSP00000343818:G805E;ENSP00000353317:G805E;ENSP00000400395:G199E	ENSP00000343818:G805E	G	-	2	0	CDK5RAP2	122255934	0.779000	0.28652	0.340000	0.25575	0.010000	0.07245	0.515000	0.22801	0.124000	0.18369	-0.367000	0.07326	GGA	CDK5RAP2	-	NULL		0.458	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123216113	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.282	T	T	123216113	C	T	123216113	3	4	131	1	0	0	0	0	1	0	0	0	3151	855	30	1	3339	1	CDK5RAP2	9	123216113	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2739982	123216113	17997318	1057	21197										
RC3H2	54542	genome.wustl.edu	37	chr9	125621235	125621235	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaaggagaagaattcattcGatctcgaggggaaaatgtac	12	5	2	2	rs374715315		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:125621235G>A	ENST00000373670.1	-	11	2596	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	RC3H2_ENST00000423239.2_Nonsense_Mutation_p.R666*|RC3H2_ENST00000357244.2_Nonsense_Mutation_p.R666*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	666	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAATTCATTCGATCTCGAGGG	0.522																																																	0													121	128	126					9																	125621235		2042	4197	6239	SO:0001587	stop_gained	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1996C>T	9.37:g.125621235G>A	ENSP00000362774:p.Arg666*		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R666*	ENST00000373670.1	37	c.1996	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.144830	0.98675	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.62	5.62	0.85841	.	0.066403	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8191	16.8003	0.85612	0.0:0.0:1.0:0.0	.	.	.	.	X	666;666;537;666	.	ENSP00000349783:R666X	R	-	1	2	RC3H2	124661056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.931000	0.63469	2.634000	0.89283	0.655000	0.94253	CGA	RC3H2	-	NULL		0.522	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	G	NM_018835		125621235	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	125621235	G	A	125621235	4	1	131	1	0	0	0	0	0	1	0	0	13197	1066	37	1	1697	1	RC3H2	9	125621235	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2405122	125621235	15592196	1058	21198										
GPR21	2844	genome.wustl.edu	37	chr9	125796960	125796960	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattgattattgtctttctaActgtattgattatttctggc	6	5	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:125796960A>C	ENST00000373642.1	+	1	155	c.115A>C	c.(115-117)Act>Cct	p.T39P	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	39					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TGTCTTTCTAACTGTATTGAT	0.368																																																	0													205	180	188					9																	125796960		2203	4300	6503	SO:0001583	missense	2844			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.115A>C	9.37:g.125796960A>C	ENSP00000362746:p.Thr39Pro		B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T39P	ENST00000373642.1	37	c.115	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123903	0.56613	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.19806	2.12	5.51	5.51	0.81932	.	0.071281	0.53938	U	0.000060	T	0.28034	0.0691	L	0.32530	0.975	0.80722	D	1	P	0.52170	0.951	P	0.51701	0.677	T	0.02093	-1.1215	10	0.87932	D	0	-10.8067	15.6193	0.76793	1.0:0.0:0.0:0.0	.	39	Q99679	GPR21_HUMAN	P	39	ENSP00000362746:T39P	ENSP00000362746:T39P	T	+	1	0	GPR21	124836781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.972000	0.70448	2.094000	0.63399	0.379000	0.24179	ACT	GPR21	-	prints_GPCR_Rhodpsn		0.368	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	A	NM_005294		125796960	1	no_errors	ENST00000373642	ensembl	human	known	70_37	missense	SNP	1.000	C	C	125796960	A	C	125796960	3	2	131	1	0	0	0	0	1	0	0	0	6700	43	2	5	117	5	GPR21	9	125796960	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	175725	125796960	15416471	1059	21199										
NR6A1	2649	genome.wustl.edu	37	chr9	127287012	127287012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgttacctgcaatatatcGaatctcaggtaagcacatca	6	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:127287012G>A	ENST00000487099.2	-	9	1499	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R443*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R444*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R447*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	448					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCAATATATCGAATCTCAGGT	0.443																																					Esophageal Squamous(192;272 2884 6208 20560)												0													144	124	131					9																	127287012		2203	4300	6503	SO:0001587	stop_gained	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1342C>T	9.37:g.127287012G>A	ENSP00000420267:p.Arg448*		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R448*	ENST00000487099.2	37	c.1342	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.247830	0.98161	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	448;444;443;447	.	ENSP00000341135:R447X	R	-	1	2	NR6A1	126326833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.179000	0.94861	2.695000	0.91970	0.655000	0.94253	CGA	NR6A1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.443	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	G			127287012	-1	no_errors	ENST00000487099	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	127287012	G	A	127287012	4	1	131	1	0	0	0	0	0	1	0	0	10661	1066	37	1	108	1	NR6A1	9	127287012	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1490052	127287012	13926419	1060	21200										
SCAI	286205	genome.wustl.edu	37	chr9	127734084	127734084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaaggccattagaggattgTtcaaaaagagagtgaagagg	15	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:127734084T>C	ENST00000336505.6	-	16	1497	c.1439A>G	c.(1438-1440)aAc>aGc	p.N480S	SCAI_ENST00000373549.4_Missense_Mutation_p.N503S	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	480					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TAGAGGATTGTTCAAAAAGAG	0.368																																																	0													100	88	92					9																	127734084		1839	4091	5930	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1439A>G	9.37:g.127734084T>C	ENSP00000336756:p.Asn480Ser		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.N503S	ENST00000336505.6	37	c.1508	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652145	0.29336	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41400	1.0;1.0	5.1	5.1	0.69264	.	0.150774	0.64402	D	0.000016	T	0.34861	0.0912	N	0.19112	0.55	0.43164	D	0.994956	B;B	0.32396	0.369;0.318	B;B	0.39503	0.301;0.199	T	0.28170	-1.0052	10	0.44086	T	0.13	-13.2789	14.3915	0.66983	0.0:0.0:0.0:1.0	.	480;503	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	S	480;503	ENSP00000336756:N480S;ENSP00000362650:N503S	ENSP00000336756:N480S	N	-	2	0	SCAI	126773905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.257000	0.78362	2.057000	0.61298	0.533000	0.62120	AAC	SCAI	-	pfam_DUF3550,pirsf_UCP013022		0.368	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	T	NM_173690		127734084	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127734084	T	C	127734084	3	2	131	1	0	0	0	0	1	0	0	0	13899	1725	60	5	393	5	SCAI	9	127734084	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	447072	127734084	13479347	1061	21201										
PBX3	5090	genome.wustl.edu	37	chr9	128678194	128678194	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctatcacacagaactggaGaaatatgaacaggtcagcag	9	8	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:128678194G>T	ENST00000373489.5	+	3	520	c.504G>T	c.(502-504)gaG>gaT	p.E168D	PBX3_ENST00000447726.2_Missense_Mutation_p.E93D|PBX3_ENST00000342287.5_Missense_Mutation_p.E168D|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.E168D	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	168					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CAGAACTGGAGAAATATGAAC	0.473																																																	0													51	59	56					9																	128678194		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.504G>T	9.37:g.128678194G>T	ENSP00000362588:p.Glu168Asp		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E168D	ENST00000373489.5	37	c.504	CCDS6865.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.540350|4.540350	0.85917|0.85917	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998|ENST00000428092	T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.34|.	6.17|6.17	6.17|6.17	0.99709|0.99709	PBX (1);|.	0.093563|0.093563	0.64402|0.64402	D|D	0.000001|0.000001	D|.	0.83899|.	0.5354|.	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	B;D;P|.	0.71674|.	0.087;0.998;0.616|.	B;D;P|.	0.85130|.	0.168;0.997;0.549|.	T|.	0.81741|.	-0.0794|.	10|.	0.52906|0.36615	T|T	0.07|0.2	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	79;168;168|.	B7Z5Q0;Q5JS98;P40426|.	.;.;PBX3_HUMAN|.	D|X	168;168;168;93;79|89	ENSP00000362588:E168D;ENSP00000341990:E168D;ENSP00000362586:E168D;ENSP00000387456:E93D;ENSP00000444005:E79D|.	ENSP00000341990:E168D|ENSP00000397903:E89X	E|E	+|+	3|1	2|0	PBX3|PBX3	127718015|127718015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|GAA	PBX3	-	pfam_PBX		0.473	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128678194	1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128678194	G	T	128678194	3	4	131	1	0	0	0	0	1	0	0	0	11518	933	33	3	514	3	PBX3	9	128678194	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	944110	128678194	12535237	1062	21202										
PBX3	5090	genome.wustl.edu	37	chr9	128724393	128724393	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttccaggttcttctggttCttttaacctcccaaattctg	5	12	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:128724393C>A	ENST00000373489.5	+	7	1038	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PBX3_ENST00000447726.2_Missense_Mutation_p.S266Y|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000373483.2_Missense_Mutation_p.S160Y|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373487.4_Missense_Mutation_p.S362Y	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	341					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTCTGGTTCTTTTAACCTC	0.443																																																	0													103	87	92					9																	128724393		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1022C>A	9.37:g.128724393C>A	ENSP00000362588:p.Ser341Tyr		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S341Y	ENST00000373489.5	37	c.1022	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397886	0.83120	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.90197	-2.41;1.68;-2.56;-2.63	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.78637	2.42	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.929	D	0.90525	0.4491	10	0.02654	T	1	.	19.8869	0.96915	0.0:1.0:0.0:0.0	.	362;341	Q5JS98;P40426	.;PBX3_HUMAN	Y	341;362;160;266	ENSP00000362588:S341Y;ENSP00000362586:S362Y;ENSP00000362582:S160Y;ENSP00000387456:S266Y	ENSP00000362582:S160Y	S	+	2	0	PBX3	127764214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.692000	0.91855	0.650000	0.86243	TCT	PBX3	-	NULL		0.443	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	C			128724393	1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128724393	C	A	128724393	3	1	131	1	0	0	0	0	1	0	0	0	11518	913	32	3	1048	3	PBX3	9	128724393	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	46199	128724393	12489038	1063	21203										
LMX1B	4010	genome.wustl.edu	37	chr9	129453255	129453255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctacgcaagggcgacgaatTcgtgctcaaggagggccagc	15	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:129453255T>G	ENST00000373474.4	+	3	474	c.467T>G	c.(466-468)tTc>tGc	p.F156C	LMX1B_ENST00000526117.1_Missense_Mutation_p.F156C|LMX1B_ENST00000425646.2_Missense_Mutation_p.F133C|LMX1B_ENST00000355497.5_Missense_Mutation_p.F156C|LMX1B_ENST00000561065.1_Missense_Mutation_p.F133C			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	156	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GGCGACGAATTCGTGCTCAAG	0.647									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													85	65	72					9																	129453255		2203	4300	6503	SO:0001583	missense	4010	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.467T>G	9.37:g.129453255T>G	ENSP00000362573:p.Phe156Cys		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.F156C	ENST00000373474.4	37	c.467	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452452	0.63290	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.91	4.91	0.64330	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.92163	0.7515	M	0.66939	2.045	0.80722	D	1	B;D;D	0.89917	0.365;1.0;1.0	B;D;D	0.97110	0.397;1.0;0.999	D	0.92902	0.6340	10	0.72032	D	0.01	.	13.7103	0.62665	0.0:0.0:0.0:1.0	.	133;133;156	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	C	156;156;156;133	ENSP00000436930:F156C;ENSP00000362573:F156C;ENSP00000347684:F156C;ENSP00000390923:F133C	ENSP00000347684:F156C	F	+	2	0	LMX1B	128493076	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	8.030000	0.88816	1.819000	0.53055	0.402000	0.26972	TTC	LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.647	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	T			129453255	1	no_errors	ENST00000355497	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129453255	T	G	129453255	3	3	131	1	0	0	0	0	1	0	0	0	8883	1783	62	5	477	5	LMX1B	9	129453255	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	728862	129453255	11760176	1064	21204										
RALGPS1	9649	genome.wustl.edu	37	chr9	129977105	129977105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcatttggatgatgcatgtaAaagcaacaggcctcaggtaa	11	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:129977105A>C	ENST00000259351.5	+	18	1895	c.1628A>C	c.(1627-1629)aAa>aCa	p.K543T	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Missense_Mutation_p.K493T|RALGPS1_ENST00000424082.2_Missense_Mutation_p.K501T	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	543	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GATGCATGTAAAAGCAACAGG	0.438											OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													157	141	146					9																	129977105		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1628A>C	9.37:g.129977105A>C	ENSP00000259351:p.Lys543Thr	1576	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.K543T	ENST00000259351.5	37	c.1628	CCDS35143.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.68|15.68	2.904846|2.904846	0.52333|0.52333	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000438723|ENST00000259351;ENST00000424082;ENST00000373434	T|T;T;T	0.77358|0.76968	-1.09|-1.06;-1.06;-1.06	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044345|0.044345	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74779|0.74779	0.3761|0.3761	L|L	0.34521|0.34521	1.04|1.04	0.36035|0.36035	D|D	0.839644|0.839644	.|B;P;P	.|0.39282	.|0.389;0.552;0.666	.|B;B;P	.|0.46975	.|0.273;0.247;0.533	T|T	0.75679|0.75679	-0.3234|-0.3234	8|10	0.15066|0.18276	T|T	0.55|0.48	.|.	15.9765|15.9765	0.80071|0.80071	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|501;493;543	.|E9PBQ5;Q5JS13-2;Q5JS13	.|.;.;RGPS1_HUMAN	Q|T	139|543;501;493	ENSP00000404021:K139Q|ENSP00000259351:K543T;ENSP00000415630:K501T;ENSP00000362533:K493T	ENSP00000404021:K139Q|ENSP00000259351:K543T	K|K	+|+	1|2	0|0	RALGPS1|RALGPS1	129016926|129016926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.451000|6.451000	0.73481|0.73481	2.172000|2.172000	0.68678|0.68678	0.533000|0.533000	0.62120|0.62120	AAA|AAA	RALGPS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	A	NM_014636		129977105	1	no_errors	ENST00000259351	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129977105	A	C	129977105	3	2	131	1	0	0	0	0	1	0	0	0	13047	14	1	5	1694	5	RALGPS1	9	129977105	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	523850	129977105	11236326	1065	21205										
C9orf119	375757	genome.wustl.edu	37	chr9	131038431	131038431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagggggcgtggctatgcagCggcgtggccagagggacctg	20	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:131038431C>T	ENST00000320188.5	+	1	7	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	3					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GGCTATGCAGCGGCGTGGCCA	0.632																																																	0													50	59	56					9																	131038431		2046	4145	6191	SO:0001583	missense	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.7C>T	9.37:g.131038431C>T	ENSP00000316609:p.Arg3Trp		Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.R3W	ENST00000320188.5	37	c.7	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147847	0.57151	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.43	0.182	0.15077	.	.	.	.	.	T	0.11750	0.0286	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	B	0.41764	0.366	T	0.16808	-1.0390	8	0.87932	D	0	.	0.6972	0.00901	0.3218:0.3246:0.1578:0.1958	.	3	Q1ZZU3	SWI5_HUMAN	W	3	.	ENSP00000316609:R3W	R	+	1	2	SWI5	130078252	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.095000	0.03356	-0.157000	0.11059	0.650000	0.86243	CGG	SWI5	-	NULL		0.632	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		C	NM_001040011		131038431	1	no_errors	ENST00000320188	ensembl	human	known	70_37	missense	SNP	0.000	T	T	131038431	C	T	131038431	3	4	131	1	0	0	0	0	1	0	0	0	2457	759	27	2	9	2	C9orf119	9	131038431	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1061326	131038431	10175000	1066	21206										
ODF2	4957	genome.wustl.edu	37	chr9	131255085	131255085	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaacaaagagattgaggcgGtactgctttccttccttgtt	10	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:131255085G>A	ENST00000434106.3	+	16	2115		c.e16+1		ODF2_ENST00000604420.1_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000546203.1_Splice_Site|ODF2_ENST00000372791.3_Splice_Site|ODF2_ENST00000372814.3_Splice_Site|ODF2_ENST00000393533.2_Splice_Site|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000393527.3_Splice_Site	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GATTGAGGCGGTACTGCTTTC	0.443																																																	0													191	159	170					9																	131255085		2203	4300	6503	SO:0001630	splice_region_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1752+1G>A	9.37:g.131255085G>A			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	-	e15+1	ENST00000434106.3	37	c.1752+1	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309165	0.81247	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8588	0.79008	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF2	130294906	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.567000	0.73983	2.654000	0.90174	0.650000	0.86243	.	ODF2	-	-		0.443	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G		Intron	131255085	1	no_errors	ENST00000372796	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	131255085	G	A	131255085	5	1	131	1	0	0	0	0	0	0	1	0	10851	1275	44	4	1866	4	ODF2	9	131255085	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	216654	131255085	9958346	1067	21207										
SET	6418	genome.wustl.edu	37	chr9	131456028	131456028	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accattctgatgcaggtgctGatgagttaggagaggtcatc	13	7	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:131456028G>T	ENST00000372692.4	+	6	884	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	SET_ENST00000477806.1_3'UTR|SET_ENST00000322030.8_Missense_Mutation_p.D202Y|SET_ENST00000409104.3_Missense_Mutation_p.D193Y|SET_ENST00000372688.4_Missense_Mutation_p.D191Y	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	215	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TGCAGGTGCTGATGAGTTAGG	0.438			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													76	75	75					9																	131456028		2203	4299	6502	SO:0001583	missense	6418			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.643G>T	9.37:g.131456028G>T	ENSP00000361777:p.Asp215Tyr		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	pfam_NAP_family	p.D215Y	ENST00000372692.4	37	c.643	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472054	0.84533	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.24538	1.85;2.96;1.85;2.96;2.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.985;0.961;0.996	T	0.49244	-0.8960	10	0.87932	D	0	.	18.1692	0.89739	0.0:0.0:1.0:0.0	.	191;202;215	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	Y	215;193;202;191;190	ENSP00000361777:D215Y;ENSP00000387321:D193Y;ENSP00000318012:D202Y;ENSP00000361773:D191Y;ENSP00000361771:D190Y	ENSP00000318012:D202Y	D	+	1	0	SET	130495849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.849000	0.92178	2.538000	0.85594	0.555000	0.69702	GAT	SET	-	pfam_NAP_family		0.438	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	G	NM_001122821		131456028	1	no_errors	ENST00000372692	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131456028	G	T	131456028	3	4	131	1	0	0	0	0	1	0	0	0	14158	1290	45	3	742	3	SET	9	131456028	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	200943	131456028	9757403	1068	21208										
ABL1	25	genome.wustl.edu	37	chr9	133729510	133729510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggtctgagtgaagccgctCgttggaactccaaggaaaac	13	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:133729510C>T	ENST00000318560.5	+	2	520	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	47	CAP.		R -> G (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.R47G(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAAGCCGCTCGTTGGAACTC	0.493			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	lung(1)											120	122	121					9																	133729510		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.139C>T	9.37:g.133729510C>T	ENSP00000323315:p.Arg47Cys		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R66C	ENST00000318560.5	37	c.196	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.685126	0.96784	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.54479	0.57;0.57	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.969	T	0.67011	-0.5778	10	0.87932	D	0	.	18.9599	0.92674	0.0:1.0:0.0:0.0	.	47;84	P00519;Q59FK4	ABL1_HUMAN;.	C	66;93;47	ENSP00000361423:R66C;ENSP00000323315:R47C	ENSP00000323315:R47C	R	+	1	0	ABL1	132719331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.874000	0.63064	2.714000	0.92807	0.638000	0.83543	CGT	ABL1	-	superfamily_SH3_domain		0.493	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133729510	1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133729510	C	T	133729510	3	4	131	1	0	0	0	0	1	0	0	0	92	884	31	1	285	1	ABL1	9	133729510	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2273482	133729510	7483921	1069	21209										
LAMC3	10319	genome.wustl.edu	37	chr9	133911651	133911651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caccggcacagactgtgagcGctgcctgcccttcttccagg	11	16	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:133911651G>A	ENST00000361069.4	+	4	1041	c.908G>A	c.(907-909)cGc>cAc	p.R303H	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	303	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.R303H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GACTGTGAGCGCTGCCTGCCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											28	31	30					9																	133911651		2200	4298	6498	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.908G>A	9.37:g.133911651G>A	ENSP00000354360:p.Arg303His		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R303H	ENST00000361069.4	37	c.908	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445631	0.25987	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.64260	-0.09	5.06	1.72	0.24424	EGF-like, laminin (4);	0.474905	0.21551	N	0.072731	T	0.51381	0.1671	L	0.49699	1.58	0.19575	N	0.999969	B	0.33022	0.394	B	0.30572	0.117	T	0.44802	-0.9304	10	0.48119	T	0.1	.	9.3915	0.38376	0.3959:0.0:0.6041:0.0	.	303	Q9Y6N6	LAMC3_HUMAN	H	303	ENSP00000354360:R303H	ENSP00000325873:R303H	R	+	2	0	LAMC3	132901472	0.000000	0.05858	1.000000	0.80357	0.365000	0.29674	-0.002000	0.12924	0.538000	0.28769	-0.369000	0.07265	CGC	LAMC3	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133911651	1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.175	A	A	133911651	G	A	133911651	3	1	131	1	0	0	0	0	1	0	0	0	8636	1087	38	2	922	2	LAMC3	9	133911651	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	182141	133911651	7301780	1070	21210										
GTF3C4	9329	genome.wustl.edu	37	chr9	135553957	135553957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acctctcccagtgtattgttTtggtgggaatatgagcacaa	10	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:135553957T>C	ENST00000372146.4	+	2	1515	c.951T>C	c.(949-951)ttT>ttC	p.F317F	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	317					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTGTATTGTTTTGGTGGGAAT	0.428																																					Pancreas(142;417 1875 11086 31973 47667)												0													156	151	153					9																	135553957		2203	4300	6503	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.951T>C	9.37:g.135553957T>C			Q5VZJ7	Silent	SNP	superfamily_WD40_repeat_dom	p.F317	ENST00000372146.4	37	c.951	CCDS6953.1	9																																																																																			GTF3C4	-	superfamily_WD40_repeat_dom		0.428	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	T			135553957	1	no_errors	ENST00000372146	ensembl	human	known	70_37	silent	SNP	0.948	C	C	135553957	T	C	135553957	2	2	131	1	0	0	0	0	0	0	0	1	6895	1838	64	5		5	GTF3C4	9	135553957	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1642306	135553957	5659474	1071	21211										
MED22	6837	genome.wustl.edu	37	chr9	136208531	136208531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagaggcaggtcattagcttCgcaaaggcttgagcttttcc	11	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136208531C>T	ENST00000491289.1	-	5	1008	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	MED22_ENST00000343730.5_Missense_Mutation_p.E143K|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	143						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCATTAGCTTCGCAAAGGCTT	0.607																																																	0													54	52	53					9																	136208531		2203	4300	6503	SO:0001583	missense	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.427G>A	9.37:g.136208531C>T	ENSP00000420393:p.Glu143Lys		B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	pfam_Mediator_Med22	p.E143K	ENST00000491289.1	37	c.427	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521654	0.64747	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.45	3.55	0.40652	.	0.052555	0.64402	D	0.000001	T	0.22360	0.0539	N	0.14661	0.345	0.80722	D	1	P	0.47545	0.897	B	0.27500	0.08	T	0.08700	-1.0709	9	0.59425	D	0.04	-6.3751	9.832	0.40948	0.0:0.9054:0.0:0.0946	.	143	Q15528	MED22_HUMAN	K	143	.	ENSP00000342343:E143K	E	-	1	0	MED22	135198352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.311000	0.59147	1.100000	0.41517	0.655000	0.94253	GAA	MED22	-	NULL		0.607	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	C	NM_133640		136208531	-1	no_errors	ENST00000343730	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136208531	C	T	136208531	3	4	131	1	0	0	0	0	1	0	0	0	9463	893	31	1	179	1	MED22	9	136208531	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	654574	136208531	5004900	1072	21212										
SARDH	1757	genome.wustl.edu	37	chr9	136555521	136555521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggctgggccctggatacTgatcatacccaggtcctcgg	12	14	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136555521T>G	ENST00000371872.4	-	16	2307	c.2050A>C	c.(2050-2052)Agt>Cgt	p.S684R	SARDH_ENST00000422262.2_Missense_Mutation_p.S516R|SARDH_ENST00000439388.1_Missense_Mutation_p.S684R|SARDH_ENST00000371868.1_Missense_Mutation_p.S112R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	684					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCTGGATACTGATCATACCC	0.652																																																	0													59	57	58					9																	136555521		2203	4300	6503	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2050A>C	9.37:g.136555521T>G	ENSP00000360938:p.Ser684Arg		B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.S684R	ENST00000371872.4	37	c.2050	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211959	0.79240	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.03	5.03	0.67393	Glycine cleavage T-protein, N-terminal (1);	0.038756	0.85682	D	0.000000	D	0.87030	0.6076	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.89056	0.3459	10	0.66056	D	0.02	-28.1475	14.4069	0.67088	0.0:0.0:0.0:1.0	.	684;112	Q9UL12;Q5SYV2	SARDH_HUMAN;.	R	684;112;684;516	ENSP00000360938:S684R;ENSP00000360934:S112R;ENSP00000403084:S684R;ENSP00000415537:S516R	ENSP00000360934:S112R	S	-	1	0	SARDH	135545342	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.632000	0.83247	1.882000	0.54519	0.402000	0.26972	AGT	SARDH	-	pfam_GCV_T_N		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	T			136555521	-1	no_errors	ENST00000371872	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136555521	T	G	136555521	3	3	131	1	0	0	0	0	1	0	0	0	13871	1580	55	5	730	5	SARDH	9	136555521	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	346990	136555521	4657910	1073	21213										
VAV2	7410	genome.wustl.edu	37	chr9	136641167	136641167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caccaggggtatgcagtgtaGtcgatctcccgggatggcgg	16	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136641167G>T	ENST00000371850.3	-	24	2032	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	VAV2_ENST00000371851.1_Missense_Mutation_p.D657E|VAV2_ENST00000406606.3_Missense_Mutation_p.D657E	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	667					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATGCAGTGTAGTCGATCTCCC	0.652																																																	0													93	85	87					9																	136641167		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2001C>A	9.37:g.136641167G>T	ENSP00000360916:p.Asp667Glu		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.D667E	ENST00000371850.3	37	c.2001	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182313	0.21870	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.63580	-0.05;0.12;0.23	4.28	3.36	0.38483	.	0.103387	0.64402	D	0.000005	T	0.54078	0.1836	L	0.60455	1.87	0.50313	D	0.999869	B;B;B	0.29627	0.005;0.252;0.005	B;B;B	0.25884	0.048;0.064;0.048	T	0.53507	-0.8429	10	0.45353	T	0.12	.	9.6322	0.39787	0.1002:0.0:0.8998:0.0	.	657;667;657	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	E	667;657;657;657	ENSP00000360916:D667E;ENSP00000360917:D657E;ENSP00000385362:D657E	ENSP00000317258:D657E	D	-	3	2	VAV2	135630988	1.000000	0.71417	0.991000	0.47740	0.093000	0.18481	4.715000	0.61909	0.953000	0.37825	0.655000	0.94253	GAC	VAV2	-	NULL		0.652	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	G			136641167	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136641167	G	T	136641167	3	4	131	1	0	0	0	0	1	0	0	0	17163	1020	36	4	663	4	VAV2	9	136641167	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	85646	136641167	4572264	1074	21214										
BRD3	8019	genome.wustl.edu	37	chr9	136916715	136916715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctcccgcagccggcttccgAcctttgccctttggagcagg	12	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136916715A>G	ENST00000303407.7	-	4	653	c.468T>C	c.(466-468)ggT>ggC	p.G156G	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Silent_p.G156G|BRD3_ENST00000357885.2_Silent_p.G156G	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	156					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCGGCTTCCGACCTTTGCCCT	0.587			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													33	38	36					9																	136916715		2203	4300	6503	SO:0001819	synonymous_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.468T>C	9.37:g.136916715A>G			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G156	ENST00000303407.7	37	c.468	CCDS6980.1	9																																																																																			BRD3	-	NULL		0.587	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	A	NM_007371		136916715	-1	no_errors	ENST00000303407	ensembl	human	known	70_37	silent	SNP	0.999	G	G	136916715	A	G	136916715	2	3	131	1	0	0	0	0	0	0	0	1	1506	262	10	5		5	BRD3	9	136916715	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	275548	136916715	4296716	1075	21215										
KCNT1	57582	genome.wustl.edu	37	chr9	138657518	138657518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggagatggatgtccaggtgCgcagagtcctgcagatccct	14	11	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:138657518C>T	ENST00000263604.3	+	13	1192	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	KCNT1_ENST00000490355.2_Missense_Mutation_p.R398C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R384C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R398C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R372C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R417C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R417C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R378C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	398					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGTCCAGGTGCGCAGAGTCCT	0.642																																																	0													49	44	46					9																	138657518		2198	4299	6497	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1192C>T	9.37:g.138657518C>T	ENSP00000263604:p.Arg398Cys		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.R417C	ENST00000263604.3	37	c.1249		9	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455307	0.63401	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.61	4.61	0.57282	NAD(P)-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.81173	0.4767	M	0.73598	2.24	0.80722	D	1	D;P;D;P	0.89917	0.999;0.954;1.0;0.954	D;P;D;B	0.74023	0.937;0.636;0.982;0.417	D	0.84297	0.0503	10	0.87932	D	0	-32.6248	16.409	0.83701	0.0:1.0:0.0:0.0	.	384;417;372;398	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	372;417;417;378;384;398;398;398	ENSP00000417851:R372C;ENSP00000298480:R417C;ENSP00000360822:R417C;ENSP00000263604:R398C	ENSP00000263604:R398C	R	+	1	0	KCNT1	137797339	0.988000	0.35896	0.987000	0.45799	0.538000	0.34931	2.822000	0.48073	2.116000	0.64780	0.313000	0.20887	CGC	KCNT1	-	NULL		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		C	NM_020822		138657518	1	no_errors	ENST00000298480	ensembl	human	known	70_37	missense	SNP	0.998	T	T	138657518	C	T	138657518	3	4	131	1	0	0	0	0	1	0	0	0	8111	768	27	2	1299	2	KCNT1	9	138657518	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1740803	138657518	2555913	1076	21216										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138774900	138774900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actggtcaacgtagaaagggTctctgaggtcctcagggatg	14	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:138774900T>G	ENST00000389532.4	-	2	249	c.185A>C	c.(184-186)gAc>gCc	p.D62A	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.D62A|CAMSAP1_ENST00000312405.6_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	62					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTAGAAAGGGTCTCTGAGGTC	0.532																																																	0													102	98	99					9																	138774900		692	1591	2283	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.185A>C	9.37:g.138774900T>G	ENSP00000374183:p.Asp62Ala		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.D62A	ENST00000389532.4	37	c.185	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043949	0.75732	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	T;T	0.16196	2.37;2.36	5.6	5.6	0.85130	.	0.124730	0.52532	U	0.000069	T	0.41096	0.1144	M	0.74258	2.255	0.58432	D	0.999997	D	0.76494	0.999	P	0.62813	0.907	T	0.32508	-0.9904	10	0.72032	D	0.01	0.7998	16.0768	0.80974	0.0:0.0:0.0:1.0	.	62	Q5T5Y3	CAMP1_HUMAN	A	62	ENSP00000374183:D62A;ENSP00000386420:D62A	ENSP00000374183:D62A	D	-	2	0	CAMSAP1	137914721	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	5.912000	0.69948	2.259000	0.74868	0.533000	0.62120	GAC	CAMSAP1	-	NULL		0.532	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	T	XM_351857		138774900	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	1.000	G	G	138774900	T	G	138774900	3	3	131	1	0	0	0	0	1	0	0	0	2616	1667	58	5	4687	5	CAMSAP1	9	138774900	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	117382	138774900	2438531	1077	21217										
SNAPC4	6621	genome.wustl.edu	37	chr9	139290190	139290190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatccttgggatcgtcctcGtcattgctggcttcgcccca	9	14	1	0	rs367593654		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:139290190G>A	ENST00000298532.2	-	3	578	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GATCGTCCTCGTCATTGCTGG	0.567																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	168	166	167		210	-10.3	0.1	9		167	0,8600		0,0,4300	no	coding-synonymous	SNAPC4	NM_003086.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		70/1470	139290190	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.210C>T	9.37:g.139290190G>A				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D70	ENST00000298532.2	37	c.210	CCDS6998.1	9																																																																																			SNAPC4	-	NULL		0.567	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139290190	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	silent	SNP	0.194	A	A	139290190	G	A	139290190	2	1	131	1	0	0	0	0	0	0	0	1	14867	1136	40	2		2	SNAPC4	9	139290190	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	515290	139290190	1923241	1078	21218										
ABCA2	20	genome.wustl.edu	37	chr9	139915905	139915905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcagacagcccagagaagCgcctggcacgcgcagcagcc	13	16	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:139915905C>T	ENST00000371605.3	-	7	980	c.833G>A	c.(832-834)cGc>cAc	p.R278H	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.R279H|ABCA2_ENST00000265662.5_Missense_Mutation_p.R279H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	278					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGAGAAGCGCCTGGCACG	0.682																																																	0													23	31	28					9																	139915905		2188	4291	6479	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.833G>A	9.37:g.139915905C>T	ENSP00000360666:p.Arg278His		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R279H	ENST00000371605.3	37	c.836		9	.	.	.	.	.	.	.	.	.	.	c	9.022	0.985097	0.18889	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88741	-2.42;-2.42;-2.42	3.94	3.01	0.34805	.	1931.850000	0.00166	U	0.000003	D	0.83778	0.5328	L	0.29908	0.895	0.37784	D	0.927102	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.66408	-0.5931	10	0.35671	T	0.21	.	6.7741	0.23611	0.0:0.6789:0.1462:0.175	.	278;308;309	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	H	279;278;309;279	ENSP00000265662:R279H;ENSP00000360666:R278H;ENSP00000344155:R279H	ENSP00000265662:R279H	R	-	2	0	ABCA2	139035726	0.989000	0.36119	0.240000	0.24138	0.087000	0.18053	0.271000	0.18626	0.597000	0.29811	0.197000	0.17608	CGC	ABCA2	-	NULL		0.682	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139915905	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139915905	C	T	139915905	3	4	131	1	0	0	0	0	1	0	0	0	32	768	27	2	6642	2	ABCA2	9	139915905	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	625715	139915905	1297526	1079	21219										
CACNA1B	774	genome.wustl.edu	37	chr9	140972693	140972693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctacttcgtctccttcatcTtcctgtgctcctttctggtg	6	14	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:140972693T>G	ENST00000371372.1	+	36	5222	c.5077T>G	c.(5077-5079)Ttc>Gtc	p.F1693V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.F1694V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F1693V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F1692V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.F887V|CACNA1B_ENST00000371365.2_Missense_Mutation_p.F57V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F1691V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1693					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCTTCATCTTCCTGTGCTC	0.567																																																	0													179	183	182					9																	140972693		2148	4249	6397	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5077T>G	9.37:g.140972693T>G	ENSP00000360423:p.Phe1693Val		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.F1694V	ENST00000371372.1	37	c.5080	CCDS59522.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.100286|4.100286	0.76983|0.76983	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365|ENST00000413253	D;D;D;D;D;D;D|.	0.98437|.	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93|.	5.8|5.8	4.65|4.65	0.58169|0.58169	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55986|0.55986	0.1955|0.1955	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|5	0.72032|.	D|.	0.01|.	.|.	11.8997|11.8997	0.52675|0.52675	0.0:0.068:0.0:0.932|0.0:0.068:0.0:0.932	.|.	1693;1692;1691|.	Q00975;B1AQK7;B1AQK6|.	CAC1B_HUMAN;.;.|.	V|R	1693;1693;887;1691;1692;1694;57|57	ENSP00000360423:F1693V;ENSP00000277551:F1693V;ENSP00000277549:F887V;ENSP00000360414:F1691V;ENSP00000360408:F1692V;ENSP00000360406:F1694V;ENSP00000360416:F57V|.	ENSP00000277549:F887V|.	F|L	+|+	1|2	0|0	CACNA1B|CACNA1B	140092514|140092514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.874000|7.874000	0.87199|0.87199	1.025000|1.025000	0.39708|0.39708	0.459000|0.459000	0.35465|0.35465	TTC|CTT	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	T	NM_000718		140972693	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140972693	T	G	140972693	3	3	131	1	0	0	0	0	1	0	0	0	2544	1609	56	5	5215	5	CACNA1B	9	140972693	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1056788	140972693	240738	1080	21220										
AKR1C4	1109	genome.wustl.edu	37	chr10	5242299	5242299	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgaagagagaagacatattCtacacttcaaaggtactgtg	10	6	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:5242299C>A	ENST00000380448.1	+	4	493	c.240C>A	c.(238-240)ttC>ttA	p.F80L	AKR1C4_ENST00000263126.1_Missense_Mutation_p.F80L|AKR1CL1_ENST00000445191.1_Intron			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	80					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGACATATTCTACACTTCAA	0.418																																																	0													170	130	144					10																	5242299		2203	4300	6503	SO:0001583	missense	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.240C>A	10.37:g.5242299C>A	ENSP00000369814:p.Phe80Leu		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.F80L	ENST00000380448.1	37	c.240	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	c	17.30	3.353652	0.61293	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.25085	1.82;1.82	3.32	0.171	0.15026	NADP-dependent oxidoreductase domain (3);	0.000000	0.56097	U	0.000022	T	0.52917	0.1764	M	0.92784	3.345	0.34919	D	0.748242	D	0.89917	1.0	D	0.85130	0.997	T	0.62877	-0.6761	10	0.87932	D	0	.	7.4775	0.27385	0.0:0.6471:0.0:0.3529	.	80	P17516	AK1C4_HUMAN	L	80	ENSP00000369814:F80L;ENSP00000263126:F80L	ENSP00000263126:F80L	F	+	3	2	AKR1C4	5232299	0.998000	0.40836	0.993000	0.49108	0.900000	0.52787	0.422000	0.21296	0.066000	0.16515	0.591000	0.81541	TTC	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.418	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	C	NM_001818		5242299	1	no_errors	ENST00000263126	ensembl	human	known	70_37	missense	SNP	0.995	A	A	5242299	C	A	5242299	3	1	131	1	0	0	0	0	1	0	0	0	472	912	32	3	246	3	AKR1C4	10	5242299	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		5242299	130292448	1081	21221										
C10orf18	54906	genome.wustl.edu	37	chr10	5768852	5768852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcctttttatttaaggcaaTcatcaaatgcttagaagatc	5	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:5768852T>G	ENST00000328090.5	+	9	981	c.356T>G	c.(355-357)aTc>aGc	p.I119S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	119																	TTTAAGGCAATCATCAAATGC	0.343																																																	0													133	128	129					10																	5768852		1825	4073	5898	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.356T>G	10.37:g.5768852T>G	ENSP00000328426:p.Ile119Ser		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.I119S	ENST00000328090.5	37	c.356	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650802	0.67472	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.17691	2.26	5.62	5.62	0.85841	.	0.319446	0.26971	N	0.021562	T	0.38108	0.1028	M	0.62723	1.935	0.29717	N	0.83896	D	0.76494	0.999	D	0.71656	0.974	T	0.34576	-0.9823	10	0.87932	D	0	.	13.1949	0.59732	0.0:0.0:0.0:1.0	.	119	Q5VWN6	F208B_HUMAN	S	119	ENSP00000328426:I119S	ENSP00000328426:I119S	I	+	2	0	C10orf18	5808858	1.000000	0.71417	0.997000	0.53966	0.785000	0.44390	4.353000	0.59411	2.138000	0.66242	0.377000	0.23210	ATC	FAM208B	-	pfam_DUF3699		0.343	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	T	NM_017782		5768852	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5768852	T	G	5768852	3	3	131	1	0	0	0	0	1	0	0	0	1600	1435	50	5	378	5	C10orf18	10	5768852	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	526553	5768852	129765895	1082	21222										
CAMK1D	57118	genome.wustl.edu	37	chr10	12811675	12811675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttattttctttctagcccGaaaatctcttgtactacagt	4	10	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:12811675G>A	ENST00000378847.3	+	5	779	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E148K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTCTAGCCCGAAAATCTCTT	0.388																																																	0													94	86	89					10																	12811675		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.442G>A	10.37:g.12811675G>A	ENSP00000368124:p.Glu148Lys		B0YIY0|Q9HD31	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.E148K	ENST00000378847.3	37	c.442	CCDS7091.1	10	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268500	0.59540	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.48201	0.82;0.82	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178760	0.47455	D	0.000224	T	0.64821	0.2633	M	0.90814	3.15	0.80722	D	1	P;P	0.43973	0.603;0.823	B;P	0.46049	0.179;0.502	T	0.74737	-0.3564	10	0.87932	D	0	-25.5166	17.7041	0.88303	0.0:0.0:1.0:0.0	.	148;148	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	K	148	ENSP00000368124:E148K;ENSP00000368122:E148K	ENSP00000368122:E148K	E	+	1	0	CAMK1D	12851681	1.000000	0.71417	0.919000	0.36401	0.354000	0.29330	9.864000	0.99589	2.403000	0.81681	0.561000	0.74099	GAA	CAMK1D	-	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		0.388	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	G	NM_020397		12811675	1	no_errors	ENST00000378847	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12811675	G	A	12811675	3	1	131	1	0	0	0	0	1	0	0	0	2602	1059	37	1	460	1	CAMK1D	10	12811675	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7042823	12811675	122723072	1083	21223										
FRMD4A	55691	genome.wustl.edu	37	chr10	13852888	13852888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagccacaaggtcaagaagCtccttggccaacagcttggg	12	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:13852888C>T	ENST00000357447.2	-	4	500	c.132G>A	c.(130-132)gaG>gaA	p.E44E	FRMD4A_ENST00000342409.2_Silent_p.E60E|FRMD4A_ENST00000378503.1_Silent_p.E44E|FRMD4A_ENST00000358621.4_Silent_p.E29E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	44	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGTCAAGAAGCTCCTTGGCCA	0.433																																																	0													68	62	64					10																	13852888		2203	4300	6503	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.132G>A	10.37:g.13852888C>T			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E44	ENST00000357447.2	37	c.132	CCDS7101.1	10																																																																																			FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.433	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	C	NM_018027		13852888	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	silent	SNP	1.000	T	T	13852888	C	T	13852888	2	4	131	1	0	0	0	0	0	0	0	1	6069	796	28	4		4	FRMD4A	10	13852888	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1041213	13852888	121681859	1084	21224										
OLAH	55301	genome.wustl.edu	37	chr10	15115213	15115213	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtgtctagaagtatcatcGatatccaatttttagatatt	6	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:15115213G>A	ENST00000378228.3	+	8	1037	c.783G>A	c.(781-783)tcG>tcA	p.S261S	OLAH_ENST00000378217.3_Silent_p.S314S|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	261					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AAGTATCATCGATATCCAATT	0.313																																																	0													58	62	61					10																	15115213		2203	4300	6503	SO:0001819	synonymous_variant	55301			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.783G>A	10.37:g.15115213G>A			Q5VUB6|Q9NUW1	Silent	SNP	pfam_Thioesterase	p.S314	ENST00000378228.3	37	c.942	CCDS31152.1	10																																																																																			OLAH	-	NULL		0.313	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLAH	HGNC	protein_coding	OTTHUMT00000046964.1	G	NM_018324		15115213	1	no_errors	ENST00000378217	ensembl	human	known	70_37	silent	SNP	0.000	A	A	15115213	G	A	15115213	2	1	131	1	0	0	0	0	0	0	0	1	10875	1045	37	1		1	OLAH	10	15115213	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1262325	15115213	120419534	1085	21225										
ITGA8	8516	genome.wustl.edu	37	chr10	15590565	15590565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaacactcgatatttgtacaAttctgcaaacagcagtggga	8	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:15590565A>G	ENST00000378076.3	-	27	3122	c.2769T>C	c.(2767-2769)aaT>aaC	p.N923N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	923					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTGTACAATTCTGCAAAC	0.433																																																	0													98	85	90					10																	15590565		2203	4300	6503	SO:0001819	synonymous_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2769T>C	10.37:g.15590565A>G			B0YJ31|Q5VX94	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.N923	ENST00000378076.3	37	c.2769	CCDS31155.1	10																																																																																			ITGA8	-	pfam_Integrin_alpha-2		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	A	NM_003638		15590565	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	silent	SNP	0.687	G	G	15590565	A	G	15590565	2	3	131	1	0	0	0	0	0	0	0	1	7902	98	4	5		5	ITGA8	10	15590565	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	475352	15590565	119944182	1086	21226										
CUBN	8029	genome.wustl.edu	37	chr10	16957842	16957842	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggtatgattgtcccagatCtccacgaagtctttttcaca	8	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:16957842C>A	ENST00000377833.4	-	46	7253	c.7188G>T	c.(7186-7188)gaG>gaT	p.E2396D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2396	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E2396D(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCCCAGATCTCCACGAAGT	0.413																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											72	72	72					10																	16957842		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7188G>T	10.37:g.16957842C>A	ENSP00000367064:p.Glu2396Asp		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E2396D	ENST00000377833.4	37	c.7188	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012107	0.75046	.	.	ENSG00000107611	ENST00000377833	T	0.22336	1.96	5.79	4.89	0.63831	CUB (5);	0.000000	0.47455	D	0.000222	T	0.43277	0.1240	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.36696	-0.9737	10	0.56958	D	0.05	.	9.2739	0.37688	0.0:0.7859:0.0:0.2141	.	2396	O60494	CUBN_HUMAN	D	2396	ENSP00000367064:E2396D	ENSP00000367064:E2396D	E	-	3	2	CUBN	16997848	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.856000	0.39389	1.488000	0.48433	0.644000	0.83932	GAG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16957842	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16957842	C	A	16957842	3	1	131	1	0	0	0	0	1	0	0	0	4056	912	32	3	3771	3	CUBN	10	16957842	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1367277	16957842	118576905	1087	21227										
ARL5B	221079	genome.wustl.edu	37	chr10	18961608	18961608	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactagctattacaaaagaaGaattatacagaatgttggct	8	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:18961608G>T	ENST00000377275.3	+	4	546	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	105					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TACAAAAGAAGAATTATACAG	0.313																																																	0													91	99	96					10																	18961608		2203	4294	6497	SO:0001587	stop_gained	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.313G>T	10.37:g.18961608G>T	ENSP00000366487:p.Glu105*			Nonsense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E105*	ENST00000377275.3	37	c.313	CCDS7131.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.149272	0.98096	.	.	ENSG00000165997	ENST00000377275	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.6377	20.2927	0.98543	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000366487:E105X	E	+	1	0	ARL5B	19001614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.403000	0.97302	2.809000	0.96659	0.579000	0.79373	GAA	ARL5B	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom		0.313	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5B	HGNC	protein_coding	OTTHUMT00000047078.1	G	NM_178815		18961608	1	no_errors	ENST00000377275	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	18961608	G	T	18961608	4	4	131	1	0	0	0	0	0	1	0	0	941	943	33	3	327	3	ARL5B	10	18961608	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2003766	18961608	116573139	1088	21228										
PRTFDC1	56952	genome.wustl.edu	37	chr10	25140370	25140370	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcatatcccaccacaaataAgtttggaatctcaaatccag	6	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:25140370A>C	ENST00000320152.6	-	8	605	c.577T>G	c.(577-579)Tta>Gta	p.L193V	PRTFDC1_ENST00000376378.1_Intron	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	193					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						ACCACAAATAAGTTTGGAATC	0.343																																																	0													85	86	85					10																	25140370		2203	4300	6503	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.577T>G	10.37:g.25140370A>C	ENSP00000318602:p.Leu193Val		B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.L193V	ENST00000320152.6	37	c.577	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108568	0.37242	.	.	ENSG00000099256	ENST00000320152	D	0.98747	-5.11	5.44	2.83	0.33086	.	0.296299	0.30538	N	0.009410	D	0.94706	0.8292	N	0.17631	0.505	0.58432	D	0.999991	B	0.02656	0.0	B	0.01281	0.0	D	0.90420	0.4416	10	0.38643	T	0.18	.	7.5551	0.27819	0.5149:0.3575:0.0:0.1276	.	193	Q9NRG1	PRDC1_HUMAN	V	193	ENSP00000318602:L193V	ENSP00000318602:L193V	L	-	1	2	PRTFDC1	25180376	0.000000	0.05858	0.986000	0.45419	0.997000	0.91878	-0.028000	0.12350	0.808000	0.34231	0.455000	0.32223	TTA	PRTFDC1	-	tigrfam_Hxn_phspho_trans		0.343	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	A	NM_020200		25140370	-1	no_errors	ENST00000320152	ensembl	human	known	70_37	missense	SNP	0.903	C	C	25140370	A	C	25140370	3	2	131	1	0	0	0	0	1	0	0	0	12664	69	3	5	108	5	PRTFDC1	10	25140370	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	6178762	25140370	110394377	1089	21229										
GPR158	57512	genome.wustl.edu	37	chr10	25883238	25883238	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagatttgttcttgcctcaaGacttcagtctgattggatgt	9	8	4	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:25883238G>T	ENST00000376351.3	+	9	2269	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	637					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTGCCTCAAGACTTCAGTCT	0.358																																																	0													186	167	173					10																	25883238		2203	4300	6503	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1910G>T	10.37:g.25883238G>T	ENSP00000365529:p.Arg637Ile		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R637I	ENST00000376351.3	37	c.1910	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611199	0.46631	.	.	ENSG00000151025	ENST00000376351	D	0.88124	-2.34	5.62	2.4	0.29515	GPCR, family 3, C-terminal (2);	0.219310	0.39615	N	0.001318	T	0.79598	0.4473	N	0.03608	-0.345	0.09310	N	1	D	0.65815	0.995	P	0.61132	0.884	T	0.69232	-0.5199	10	0.45353	T	0.12	.	6.9339	0.24457	0.2205:0.1353:0.6442:0.0	.	637	Q5T848	GP158_HUMAN	I	637	ENSP00000365529:R637I	ENSP00000365529:R637I	R	+	2	0	GPR158	25923244	0.979000	0.34478	0.291000	0.24904	0.972000	0.66771	1.433000	0.34947	1.375000	0.46248	-0.127000	0.14921	AGA	GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.358	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	G	XM_166110		25883238	1	no_errors	ENST00000376351	ensembl	human	known	70_37	missense	SNP	0.027	T	T	25883238	G	T	25883238	3	4	131	1	0	0	0	0	1	0	0	0	6682	942	33	3	1944	3	GPR158	10	25883238	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	742868	25883238	109651509	1090	21230										
GPR158	57512	genome.wustl.edu	37	chr10	25887399	25887399	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacagaaatcactcaaattcTgataacacagagactaaaga	5	8	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:25887399T>G	ENST00000376351.3	+	11	3203	c.2844T>G	c.(2842-2844)tcT>tcG	p.S948S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	948					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTCAAATTCTGATAACACAG	0.433																																																	0													101	116	111					10																	25887399		2203	4300	6503	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2844T>G	10.37:g.25887399T>G			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.S948	ENST00000376351.3	37	c.2844	CCDS31166.1	10																																																																																			GPR158	-	NULL		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	T	XM_166110		25887399	1	no_errors	ENST00000376351	ensembl	human	known	70_37	silent	SNP	0.001	G	G	25887399	T	G	25887399	2	3	131	1	0	0	0	0	0	0	0	1	6682	1567	55	5		5	GPR158	10	25887399	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4161	25887399	109647348	1091	21231										
ANKRD26	22852	genome.wustl.edu	37	chr10	27335392	27335392	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgaattcacagattctttCgaggtccgtttttctttttc	8	8	3	2	rs539828112	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:27335392C>T	ENST00000376087.4	-	18	2040	c.1875G>A	c.(1873-1875)tcG>tcA	p.S625S	ANKRD26_ENST00000436985.2_Silent_p.S641S|ANKRD26_ENST00000376070.3_Silent_p.S182S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	624					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAGATTCTTTCGAGGTCCGTT	0.403													c|||	3	0.000599042	0	0	5008	,	,		15858	0.001		0	False		,,,				2504	0.002																0													132	124	127					10																	27335392		1828	4095	5923	SO:0001819	synonymous_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1875G>A	10.37:g.27335392C>T			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S641	ENST00000376087.4	37	c.1923	CCDS41499.1	10																																																																																			ANKRD26	-	NULL		0.403	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27335392	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	silent	SNP	0.000	T	T	27335392	C	T	27335392	2	4	131	1	0	0	0	0	0	0	0	1	654	871	31	1		1	ANKRD26	10	27335392	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1447993	27335392	108199355	1092	21232										
ARMC4	55130	genome.wustl.edu	37	chr10	28283975	28283975	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccacaaacacaataatttCtttcaatatcgcttcattta	1	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:28283975C>A	ENST00000305242.5	-	2	189	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	33					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAATAATTTCTTTCAATATC	0.438																																																	0													80	76	77					10																	28283975		2203	4300	6503	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.97G>T	10.37:g.28283975C>A	ENSP00000306410:p.Glu33*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.E33*	ENST00000305242.5	37	c.97	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284994	0.80803	.	.	ENSG00000169126	ENST00000305242	.	.	.	4.98	4.98	0.66077	.	0.181696	0.45606	D	0.000347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.0447	14.92	0.70829	0.0:0.8458:0.1542:0.0	.	.	.	.	X	33	.	ENSP00000306410:E33X	E	-	1	0	ARMC4	28323981	0.999000	0.42202	0.214000	0.23707	0.878000	0.50629	3.963000	0.56773	2.293000	0.77203	0.585000	0.79938	GAA	ARMC4	-	NULL		0.438	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	C	NM_018076		28283975	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	0.967	A	A	28283975	C	A	28283975	4	1	131	1	0	0	0	0	0	1	0	0	954	922	32	3	3113	3	ARMC4	10	28283975	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	948583	28283975	107250772	1093	21233										
SVIL	6840	genome.wustl.edu	37	chr10	29821086	29821086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaggtccttcagccgacctCtccacccgtgatttgctttg	8	16	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:29821086C>T	ENST00000355867.4	-	9	2606	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Silent_p.E618E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	618					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGCCGACCTCTCCACCCGTG	0.498																																																	0													56	55	55					10																	29821086		2203	4300	6503	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1854G>A	10.37:g.29821086C>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.E618	ENST00000355867.4	37	c.1854	CCDS7164.1	10																																																																																			SVIL	-	NULL		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	C			29821086	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29821086	C	T	29821086	2	4	131	1	0	0	0	0	0	0	0	1	15451	912	32	1		1	SVIL	10	29821086	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1537111	29821086	105713661	1094	21234										
ZEB1	6935	genome.wustl.edu	37	chr10	31810200	31810200	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagtcttctgaaccatcttCtcctgaaccaggcaaagtaa	7	12	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:31810200C>A	ENST00000320985.10	+	7	2047	c.1937C>A	c.(1936-1938)tCt>tAt	p.S646Y	ZEB1_ENST00000446923.2_Missense_Mutation_p.S630Y|ZEB1_ENST00000542815.3_Missense_Mutation_p.S579Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.S626Y|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.S647Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	646					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GAACCATCTTCTCCTGAACCA	0.408																																					Ovarian(40;423 959 14296 36701 49589)												0													73	69	70					10																	31810200		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1937C>A	10.37:g.31810200C>A	ENSP00000319248:p.Ser646Tyr		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S647Y	ENST00000320985.10	37	c.1940	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399315	0.62177	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.34	5.34	0.76211	.	0.437579	0.21871	N	0.067893	D	0.87755	0.6257	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.982;0.999;0.998;0.998;0.998;0.984;0.998;0.998	P;D;D;D;D;P;D;D	0.83275	0.897;0.996;0.991;0.991;0.991;0.851;0.991;0.991	D	0.88211	0.2890	10	0.72032	D	0.01	-12.4514	19.4201	0.94719	0.0:1.0:0.0:0.0	.	579;646;630;646;646;626;647;646	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	Y	428;646;647;646;579;646;626;505;537;630	ENSP00000444282:S428Y;ENSP00000354487:S647Y;ENSP00000444891:S579Y;ENSP00000319248:S646Y;ENSP00000391612:S630Y	ENSP00000319248:S646Y	S	+	2	0	ZEB1	31850206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.984000	0.70548	2.667000	0.90743	0.655000	0.94253	TCT	ZEB1	-	superfamily_Homeodomain-like		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	C	NM_030751		31810200	1	no_errors	ENST00000361642	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31810200	C	A	31810200	3	1	131	1	0	0	0	0	1	0	0	0	17653	913	32	3	1977	3	ZEB1	10	31810200	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1989114	31810200	103724547	1095	21235										
PARD3	56288	genome.wustl.edu	37	chr10	34626313	34626313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgacgtccaaatccttctCgttgaaaagcaagaactgga	8	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:34626313C>T	ENST00000374789.3	-	17	2784	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	PARD3_ENST00000374773.1_Missense_Mutation_p.R817Q|PARD3_ENST00000374790.3_Missense_Mutation_p.R760Q|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000544292.1_Missense_Mutation_p.R534Q|PARD3_ENST00000374788.3_Missense_Mutation_p.R817Q|PARD3_ENST00000374794.3_Missense_Mutation_p.R760Q|PARD3_ENST00000340077.5_Missense_Mutation_p.R817Q|PARD3_ENST00000545693.1_Missense_Mutation_p.R804Q|PARD3_ENST00000350537.4_Missense_Mutation_p.R804Q|PARD3_ENST00000346874.4_Missense_Mutation_p.R820Q|PARD3_ENST00000374776.1_Missense_Mutation_p.R804Q|PARD3_ENST00000545260.1_Missense_Mutation_p.R760Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	820	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAATCCTTCTCGTTGAAAAGC	0.343																																																	0													87	80	82					10																	34626313		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2459G>A	10.37:g.34626313C>T	ENSP00000363921:p.Arg820Gln		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R820Q	ENST00000374789.3	37	c.2459	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037257	0.93630	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.9;2.42;0.9;1.76;1.03;2.13;2.41;0.87;2.01;0.44;2.09;0.52	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.938;0.867;1.0	D;D;D;D;D;D;D;D;D;D;D;D;P;B;D	0.91635	0.999;0.982;0.997;0.999;0.997;0.997;0.999;0.949;0.998;0.988;0.998;0.999;0.454;0.329;0.987	T	0.68522	-0.5386	10	0.46703	T	0.11	.	20.1237	0.97972	0.0:1.0:0.0:0.0	.	760;760;804;804;804;820;817;820;760;804;817;817;804;817;534	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	Q	804;760;820;817;820;760;804;760;804;817;817;534	ENSP00000443147:R804Q;ENSP00000440857:R760Q;ENSP00000363921:R820Q;ENSP00000363920:R817Q;ENSP00000340591:R820Q;ENSP00000363926:R760Q;ENSP00000311986:R804Q;ENSP00000363922:R760Q;ENSP00000363908:R804Q;ENSP00000341844:R817Q;ENSP00000363905:R817Q;ENSP00000444429:R534Q	ENSP00000341844:R817Q	R	-	2	0	PARD3	34666319	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.759000	0.94783	0.561000	0.74099	CGA	PARD3	-	NULL		0.343	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619		34626313	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34626313	C	T	34626313	3	4	131	1	0	0	0	0	1	0	0	0	11467	884	31	1	1682	1	PARD3	10	34626313	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2816113	34626313	100908434	1096	21236										
OR13A1	79290	genome.wustl.edu	37	chr10	45799286	45799286	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggggagggacctcgcagaaGaaatggataatgacattggg	16	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:45799286G>T	ENST00000553795.1	-	4	893	c.585C>A	c.(583-585)ttC>ttA	p.F195L	OR13A1_ENST00000374401.2_Missense_Mutation_p.F195L|OR13A1_ENST00000536058.1_Missense_Mutation_p.F195L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CCTCGCAGAAGAAATGGATAA	0.577																																																	0													52	54	54					10																	45799286		2201	4299	6500	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.585C>A	10.37:g.45799286G>T	ENSP00000451950:p.Phe195Leu		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F195L	ENST00000553795.1	37	c.585	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	g	16.66	3.185467	0.57909	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00346	8.01;8.01;8.01	5.78	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.00524	0.0017	M	0.78344	2.41	0.34086	D	0.660109	P	0.40681	0.727	P	0.50825	0.651	T	0.55016	-0.8206	10	0.87932	D	0	-89.0379	9.7861	0.40677	0.1729:0.0:0.8271:0.0	.	195	Q8NGR1	O13A1_HUMAN	L	195	ENSP00000451950:F195L;ENSP00000438657:F195L;ENSP00000363522:F195L	ENSP00000311379:F195L	F	-	3	2	OR13A1	45119292	0.997000	0.39634	0.986000	0.45419	0.236000	0.25371	2.254000	0.43214	0.738000	0.32606	0.650000	0.86243	TTC	OR13A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.577	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	G	NM_001004297		45799286	-1	no_errors	ENST00000374401	ensembl	human	known	70_37	missense	SNP	0.997	T	T	45799286	G	T	45799286	3	4	131	1	0	0	0	0	1	0	0	0	10957	933	33	3	405	3	OR13A1	10	45799286	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	11172973	45799286	89735461	1097	21237										
C10orf71	118461	genome.wustl.edu	37	chr10	50531905	50531905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacccaatgaacattatgatCccccctttaacatcagtaag	4	12	1	2	rs201896971		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:50531905C>T	ENST00000374144.3	+	3	1603	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P439S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	439										endometrium(1)	1						ACATTATGATCCCCCCTTTAA	0.527																																																	0													83	88	87					10																	50531905		2015	4186	6201	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1315C>T	10.37:g.50531905C>T	ENSP00000363259:p.Pro439Ser		A0AVL8	Missense_Mutation	SNP	NULL	p.P439S	ENST00000374144.3	37	c.1315	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	C	7.106	0.575098	0.13623	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14766	2.48;3.59	5.48	4.56	0.56223	.	0.000000	0.37761	N	0.001956	T	0.08313	0.0207	N	0.25144	0.715	0.34336	D	0.688203	P	0.35628	0.513	B	0.32533	0.147	T	0.32188	-0.9916	10	0.27785	T	0.31	.	8.3164	0.32102	0.1278:0.7323:0.0:0.1399	.	439	Q711Q0-3	.	S	439	ENSP00000318713:P439S;ENSP00000363259:P439S	ENSP00000318713:P439S	P	+	1	0	C10orf71	50201911	0.957000	0.32711	0.267000	0.24556	0.161000	0.22273	2.215000	0.42862	1.288000	0.44600	0.644000	0.83932	CCC	C10orf71	-	NULL		0.527	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	C	NM_199459		50531905	1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.903	T	T	50531905	C	T	50531905	3	4	131	1	0	0	0	0	1	0	0	0	1618	855	30	1	1317	1	C10orf71	10	50531905	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4732619	50531905	85002842	1098	21238										
ERCC6	2074	genome.wustl.edu	37	chr10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgatctgccaaatacttttCgaagcctgatgcttcattaa	6	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	272					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATACTTTTCGAAGCCTGAT	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													165	161	163					10																	50732662		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.814G>A	10.37:g.50732662C>T	ENSP00000348089:p.Glu272Lys		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E272K	ENST00000355832.5	37	c.814	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.575942	0.96553	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.86432	-2.12;2.61;2.61	6.03	6.03	0.97812	.	.	.	.	.	D	0.91794	0.7404	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58820	0.833;0.846	D	0.89682	0.3891	9	0.32370	T	0.25	-37.346	18.7472	0.91797	0.0:1.0:0.0:0.0	.	272;272	E7EV46;Q03468	.;ERCC6_HUMAN	K	272	ENSP00000348089:E272K;ENSP00000423550:E272K;ENSP00000387966:E272K	ENSP00000348089:E272K	E	-	1	0	ERCC6;RP11-123B3.6	50402668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	GAA	ERCC6	-	NULL		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	C	NM_000124		50732662	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50732662	C	T	50732662	3	4	131	1	0	0	0	0	1	0	0	0	5229	893	31	1	3735	1	ERCC6	10	50732662	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	200757	50732662	84802085	1099	21239										
AGAP6	414189	genome.wustl.edu	37	chr10	51768631	51768631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtttgcaagcggtccatgcGctggtccaacctgtttacat	10	12	0	0	rs199714140	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:51768631G>A	ENST00000374056.4	+	7	1075	c.677G>A	c.(676-678)cGc>cAc	p.R226H	AGAP6_ENST00000412531.3_Missense_Mutation_p.R249H			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	226					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CGGTCCATGCGCTGGTCCAAC	0.577													.|||	17	0.00339457	0	0.0058	5008	,	,		17221	0		0.0099	False		,,,				2504	0.0031																0																																										SO:0001583	missense	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.677G>A	10.37:g.51768631G>A	ENSP00000363168:p.Arg226His			Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R249H	ENST00000374056.4	37	c.746		10	.	.	.	.	.	.	.	.	.	.	.	12.93	2.086396	0.36855	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.065932	0.64402	D	0.000008	T	0.48429	0.1499	M	0.66939	2.045	0.46317	D	0.998981	P	0.46064	0.872	P	0.44732	0.459	T	0.46582	-0.9181	9	0.87932	D	0	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	249	C9IYN2	.	H	249;226	.	ENSP00000363168:R249H	R	+	2	0	AGAP6	51438637	1.000000	0.71417	0.146000	0.22360	0.148000	0.21650	6.204000	0.72143	0.132000	0.18615	0.134000	0.15878	CGC	AGAP6	-	NULL		0.577	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		G	NM_001077665		51768631	1	no_errors	ENST00000374056	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51768631	G	A	51768631	3	1	131	1	0	0	0	0	1	0	0	0	372	1087	38	2	776	2	AGAP6	10	51768631	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1035969	51768631	83766116	1100	21240										
DKK1	22943	genome.wustl.edu	37	chr10	54076460	54076460	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaaggctctcatggactaGaaatattccagcgttgttac	9	8	1	1	rs11001564	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:54076460G>T	ENST00000373970.3	+	4	833	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	232	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TCATGGACTAGAAATATTCCA	0.443																																																	0													115	109	111					10																	54076460		2203	4300	6503	SO:0001587	stop_gained	22943				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.694G>T	10.37:g.54076460G>T	ENSP00000363081:p.Glu232*		B2RC19	Nonsense_Mutation	SNP	pfam_Dickkopf_N	p.E232*	ENST00000373970.3	37	c.694	CCDS7246.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.416750	0.97550	.	.	ENSG00000107984	ENST00000373970	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.0044	19.9882	0.97356	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000363081:E232X	E	+	1	0	DKK1	53746466	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GAA	DKK1	-	NULL		0.443	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	HGNC	protein_coding	OTTHUMT00000048100.1	G			54076460	1	no_errors	ENST00000373970	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	54076460	G	T	54076460	4	4	131	1	0	0	0	0	0	1	0	0	4554	943	33	3	708	3	DKK1	10	54076460	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2307829	54076460	81458287	1101	21241										
PCDH15	65217	genome.wustl.edu	37	chr10	55892704	55892704	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggctatacatcagctgtggGaagcgaggagggctttgatt	15	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:55892704G>A	ENST00000320301.6	-	15	2242	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	PCDH15_ENST00000361849.3_Silent_p.F616F|PCDH15_ENST00000414778.1_Silent_p.F621F|PCDH15_ENST00000373957.3_Silent_p.F594F|PCDH15_ENST00000395433.1_Silent_p.F594F|PCDH15_ENST00000373955.1_Silent_p.F616F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.F579F|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395446.1_Silent_p.F616F|PCDH15_ENST00000373965.2_Silent_p.F623F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.F616F|PCDH15_ENST00000409834.1_Silent_p.F227F|PCDH15_ENST00000395445.1_Silent_p.F623F|PCDH15_ENST00000395438.1_Silent_p.F616F	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	616	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAGCTGTGGGAAGCGAGGAG	0.433										HNSCC(58;0.16)																																							0													130	112	118					10																	55892704		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1848C>T	10.37:g.55892704G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	NULL	p.S52F	ENST00000320301.6	37	c.155	CCDS7248.1	10																																																																																			PCDH15	-	NULL		0.433	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55892704	-1	no_errors	ENST00000373956	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55892704	G	A	55892704	2	1	131	1	0	0	0	0	0	0	0	1	11535	1165	41	1		1	PCDH15	10	55892704	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1816244	55892704	79642043	1102	21242										
ANK3	288	genome.wustl.edu	37	chr10	61832013	61832013	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgattctctcttacatcatGaacaagtacatgcgaaagtt	7	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:61832013G>T	ENST00000280772.2	-	37	8817	c.8626C>A	c.(8626-8628)Cat>Aat	p.H2876N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2876					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTACATCATGAACAAGTACA	0.393																																																	0													83	86	85					10																	61832013		2203	4299	6502	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8626C>A	10.37:g.61832013G>T	ENSP00000280772:p.His2876Asn		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.H2876N	ENST00000280772.2	37	c.8626	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571758	0.65765	.	.	ENSG00000151150	ENST00000280772	T	0.62639	0.01	5.73	5.73	0.89815	.	0.000000	0.43260	D	0.000584	T	0.48295	0.1492	N	0.19112	0.55	0.80722	D	1	B	0.30482	0.281	B	0.24848	0.056	T	0.40421	-0.9564	10	0.18710	T	0.47	.	19.8881	0.96917	0.0:0.0:1.0:0.0	.	2876	Q12955	ANK3_HUMAN	N	2876	ENSP00000280772:H2876N	ENSP00000280772:H2876N	H	-	1	0	ANK3	61502019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.140000	0.58031	2.708000	0.92522	0.555000	0.69702	CAT	ANK3	-	NULL		0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61832013	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61832013	G	T	61832013	3	4	131	1	0	0	0	0	1	0	0	0	622	1290	45	3	4848	3	ANK3	10	61832013	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5939309	61832013	73702734	1103	21243										
ARID5B	84159	genome.wustl.edu	37	chr10	63845627	63845627	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaaaagcaagaaagaaaaaGaaaatgccccaaagccccag	7	10	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:63845627G>T	ENST00000279873.7	+	9	1776	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E213*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	456					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAGAAAAAGAAAATGCCCC	0.448																																																	0													112	120	117					10																	63845627		2203	4300	6503	SO:0001587	stop_gained	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1366G>T	10.37:g.63845627G>T	ENSP00000279873:p.Glu456*		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Nonsense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E456*	ENST00000279873.7	37	c.1366	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.692527	0.99240	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.77	5.77	0.91146	.	0.481200	0.24604	N	0.037116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-27.28	18.5274	0.90978	0.0:0.0:1.0:0.0	.	.	.	.	X	456;213	.	ENSP00000279873:E456X	E	+	1	0	ARID5B	63515633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.884000	0.98904	0.655000	0.94253	GAA	ARID5B	-	NULL		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	G	XM_084482		63845627	1	no_errors	ENST00000279873	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	63845627	G	T	63845627	4	4	131	1	0	0	0	0	0	1	0	0	922	943	33	3	1400	3	ARID5B	10	63845627	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2013614	63845627	71689120	1104	21244										
LRRTM3	347731	genome.wustl.edu	37	chr10	68687033	68687033	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgattcttagttccaataGaatctcctattttcttaaca	4	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:68687033G>T	ENST00000361320.4	+	2	937	c.359G>T	c.(358-360)aGa>aTa	p.R120I	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGTTCCAATAGAATCTCCTAT	0.383																																																	0													101	107	105					10																	68687033		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.359G>T	10.37:g.68687033G>T	ENSP00000355187:p.Arg120Ile		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R120I	ENST00000361320.4	37	c.359	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746724	0.49257	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.60040	0.22	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	T	0.73426	0.3585	M	0.66378	2.025	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.62740	0.88;0.906	T	0.75690	-0.3230	10	0.66056	D	0.02	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	120;120	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	120	ENSP00000355187:R120I	ENSP00000355187:R120I	R	+	2	0	LRRTM3	68357039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.317000	0.72862	2.543000	0.85770	0.655000	0.94253	AGA	LRRTM3	-	smart_Leu-rich_rpt_typical-subtyp		0.383	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68687033	1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68687033	G	T	68687033	3	4	131	1	0	0	0	0	1	0	0	0	9064	942	33	3	365	3	LRRTM3	10	68687033	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4841406	68687033	66847714	1105	21245										
HERC4	26091	genome.wustl.edu	37	chr10	69748552	69748552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccttaaaaagttctactatCttgaggaatagtggaggttc	9	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:69748552C>A	ENST00000395198.3	-	15	1921	c.1674G>T	c.(1672-1674)aaG>aaT	p.K558N	HERC4_ENST00000412272.2_Missense_Mutation_p.K558N|HERC4_ENST00000277817.6_Missense_Mutation_p.K448N|HERC4_ENST00000373700.4_Missense_Mutation_p.K558N|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	558					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GTTCTACTATCTTGAGGAATA	0.308																																																	0													107	117	114					10																	69748552		2202	4295	6497	SO:0001583	missense	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1674G>T	10.37:g.69748552C>A	ENSP00000378624:p.Lys558Asn		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.K558N	ENST00000395198.3	37	c.1674	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952691	0.53293	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.48836	1.06;0.81;0.81;0.8	5.49	5.49	0.81192	.	0.042647	0.85682	D	0.000000	T	0.45296	0.1335	L	0.48642	1.525	0.80722	D	1	P;P;B;P;P;P	0.51933	0.949;0.696;0.148;0.57;0.696;0.57	P;B;B;B;B;B	0.46543	0.52;0.433;0.119;0.25;0.433;0.25	T	0.47699	-0.9097	10	0.72032	D	0.01	.	9.3873	0.38352	0.0:0.8016:0.0:0.1984	.	558;448;558;408;558;558	Q5GLZ8-3;Q5GLZ8-6;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;.;HERC4_HUMAN	N	448;558;558;558	ENSP00000277817:K448N;ENSP00000416504:K558N;ENSP00000378624:K558N;ENSP00000362804:K558N	ENSP00000277817:K448N	K	-	3	2	HERC4	69418558	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.593000	0.36686	2.565000	0.86533	0.655000	0.94253	AAG	HERC4	-	NULL		0.308	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	C	NM_015601		69748552	-1	no_errors	ENST00000395198	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69748552	C	A	69748552	3	1	131	1	0	0	0	0	1	0	0	0	7080	912	32	3	1547	3	HERC4	10	69748552	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1061519	69748552	65786195	1106	21246										
DNA2	1763	genome.wustl.edu	37	chr10	70209937	70209937	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctaggggaccaaatgctttCttcaatatccattggtttca	7	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:70209937C>A	ENST00000358410.3	-	6	837	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	DNA2_ENST00000399180.2_Nonsense_Mutation_p.E349*|DNA2_ENST00000399179.2_Nonsense_Mutation_p.E263*	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	263	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAAATGCTTTCTTCAATATCC	0.328																																																	0													94	84	87					10																	70209937		1856	4094	5950	SO:0001587	stop_gained	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.787G>T	10.37:g.70209937C>A	ENSP00000351185:p.Glu263*		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Nonsense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N	p.E349*	ENST00000358410.3	37	c.1045		10	.	.	.	.	.	.	.	.	.	.	C	37	6.003472	0.97189	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	.	.	.	4.99	4.09	0.47781	.	0.131930	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.2013	0.59769	0.0:0.9231:0.0:0.0769	.	.	.	.	X	263;349;263;263	.	ENSP00000351185:E263X	E	-	1	0	DNA2	69879943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.503000	0.66962	1.111000	0.41721	0.655000	0.94253	GAA	DNA2	-	pfam_DNA_replication_fac_Dna2_N		0.328	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	C			70209937	-1	no_errors	ENST00000399180	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	70209937	C	A	70209937	4	1	131	1	0	0	0	0	0	1	0	0	4606	922	32	3	2459	3	DNA2	10	70209937	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	461385	70209937	65324810	1107	21247										
HK1	3098	genome.wustl.edu	37	chr10	71158511	71158511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgcggttgtggataagatcCgcgagaacagaggactggac	15	8	0	3	rs146727978		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:71158511C>T	ENST00000359426.6	+	17	2640	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	HK1_ENST00000448642.2_Missense_Mutation_p.R881C|HK1_ENST00000404387.2_Missense_Mutation_p.R850C|HK1_ENST00000360289.2_Missense_Mutation_p.R834C|HK1_ENST00000298649.3_Missense_Mutation_p.R845C	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	846	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGATAAGATCCGCGAGAACAG	0.592																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	102	92	96		2536,2533,2548,2548,2500	4.5	1	10	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	HK1	NM_000188.2,NM_033496.2,NM_033497.2,NM_033498.2,NM_033500.2	180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	846/918,845/917,850/922,850/922,834/906	71158511	2,13004	2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2536C>T	10.37:g.71158511C>T	ENSP00000352398:p.Arg846Cys		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R881C	ENST00000359426.6	37	c.2641	CCDS7292.1	10	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770577	0.69992	0.0	2.33E-4	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8	5.49	4.51	0.55191	Hexokinase, C-terminal (1);	0.051523	0.85682	D	0.000000	D	0.99105	0.9692	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.984	D;D;D;D;B	0.97110	0.992;0.996;1.0;1.0;0.338	D	0.98860	1.0762	10	0.87932	D	0	-7.0642	12.8713	0.57966	0.2391:0.7609:0.0:0.0	.	846;845;881;850;834	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	C	834;881;850;845;846;846	ENSP00000353433:R834C;ENSP00000402103:R881C;ENSP00000384774:R850C;ENSP00000298649:R845C;ENSP00000352398:R846C	ENSP00000298649:R845C	R	+	1	0	HK1	70828517	0.026000	0.19158	0.967000	0.41034	0.849000	0.48306	0.035000	0.13797	2.567000	0.86603	0.563000	0.77884	CGC	HK1	-	pfam_Hexokinase_C		0.592	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	C	NM_000188		71158511	1	no_errors	ENST00000448642	ensembl	human	known	70_37	missense	SNP	0.995	T	T	71158511	C	T	71158511	3	4	131	1	0	0	0	0	1	0	0	0	7210	652	23	2	2780	2	HK1	10	71158511	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	948574	71158511	64376236	1108	21248										
COL13A1	1305	genome.wustl.edu	37	chr10	71562411	71562411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtgctgcgcctggaagcgGagcgcggggagcagcaaatg	20	9	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:71562411G>C	ENST00000398978.3	+	1	724	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	COL13A1_ENST00000398968.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398972.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000354547.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398971.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398974.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000356340.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000357811.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000517713.1_Missense_Mutation_p.E78Q|COL13A1_ENST00000398966.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000520133.1_Missense_Mutation_p.E78Q|COL13A1_ENST00000398964.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000522165.1_Missense_Mutation_p.E78Q|COL13A1_ENST00000398973.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398969.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000520267.1_Missense_Mutation_p.E78Q	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCTGGAAGCGGAGCGCGGGGA	0.647																																																	0													120	127	125					10																	71562411		1960	4152	6112	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.232G>C	10.37:g.71562411G>C	ENSP00000381949:p.Glu78Gln			Missense_Mutation	SNP	pfam_Collagen	p.E78Q	ENST00000398978.3	37	c.232	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892607	0.52121	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92249	-2.97;-2.76;-2.79;-2.86;-3.0;-2.87;-2.82;-2.77;-2.83;-2.88;-2.85;-2.86;-2.85;-2.73;-2.8;-2.71	5.36	4.4	0.53042	.	0.000000	0.41938	D	0.000799	D	0.88555	0.6468	N	0.25890	0.77	0.29514	N	0.854011	B;P;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B	0.47910	0.181;0.902;0.004;0.006;0.006;0.006;0.006;0.006;0.006;0.018;0.011;0.011;0.651;0.277;0.011;0.011;0.006;0.011	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.46543	0.054;0.52;0.019;0.008;0.008;0.008;0.008;0.008;0.008;0.014;0.019;0.019;0.165;0.116;0.019;0.019;0.008;0.019	D	0.85606	0.1255	10	0.44086	T	0.13	-8.5613	14.6543	0.68823	0.0:0.146:0.854:0.0	.	78;78;78;78;78;78;78;78;78;78;78;78;78;78;78;78;78;78	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	78	ENSP00000381946:E78Q;ENSP00000381943:E78Q;ENSP00000381940:E78Q;ENSP00000381938:E78Q;ENSP00000381936:E78Q;ENSP00000381941:E78Q;ENSP00000348695:E78Q;ENSP00000381944:E78Q;ENSP00000381945:E78Q;ENSP00000381949:E78Q;ENSP00000346553:E78Q;ENSP00000350463:E78Q;ENSP00000428057:E78Q;ENSP00000430061:E78Q;ENSP00000428342:E78Q;ENSP00000430173:E78Q	ENSP00000346553:E78Q	E	+	1	0	COL13A1	71232417	0.997000	0.39634	0.991000	0.47740	0.987000	0.75469	2.650000	0.46665	2.527000	0.85204	0.456000	0.33151	GAG	COL13A1	-	NULL		0.647	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	G	NM_005203		71562411	1	no_errors	ENST00000356340	ensembl	human	known	70_37	missense	SNP	0.982	C	C	71562411	G	C	71562411	3	2	131	1	0	0	0	0	1	0	0	0	3675	1175	41	1	234	1	COL13A1	10	71562411	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	403900	71562411	63972336	1109	21249										
CDH23	64072	genome.wustl.edu	37	chr10	73442211	73442211	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtcattgcagtgatcagcgTcagtcgccccctggattatg	11	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:73442211T>G	ENST00000224721.6	+	17	1888	c.1883T>G	c.(1882-1884)gTc>gGc	p.V628G	CDH23_ENST00000299366.7_Missense_Mutation_p.V668G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGATCAGCGTCAGTCGCCCC	0.552																																																	0													58	60	60					10																	73442211		2014	4184	6198	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1883T>G	10.37:g.73442211T>G	ENSP00000224721:p.Val628Gly		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V626G	ENST00000224721.6	37	c.1877		10	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225298	0.79576	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000011	D	0.84329	0.5448	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.968	D	0.87677	0.2545	9	0.87932	D	0	.	15.2681	0.73678	0.0:0.0:0.0:1.0	.	623;626;623	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	G	628;623;623;626;626;140	.	ENSP00000224721:V628G	V	+	2	0	CDH23	73112217	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.665000	0.83852	2.019000	0.59389	0.533000	0.62120	GTC	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	T	NM_052836		73442211	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73442211	T	G	73442211	3	3	131	1	0	0	0	0	1	0	0	0	3113	1667	58	5	2161	5	CDH23	10	73442211	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1879800	73442211	62092536	1110	21250										
SYNPO2L	79933	genome.wustl.edu	37	chr10	75406540	75406540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgttctggtggctgaaaatCggggcctggctacctggaaa	14	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:75406540C>T	ENST00000394810.2	-	4	3019	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R733Q	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	957						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGAAAATCGGGGCCTGGC	0.642																																																	0													66	73	71					10																	75406540		2203	4300	6503	SO:0001583	missense	79933			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2870G>A	10.37:g.75406540C>T	ENSP00000378289:p.Arg957Gln		A5PKV9|Q68A20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R957Q	ENST00000394810.2	37	c.2870	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039066	0.55003	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.26223	1.75;2.09	4.93	3.08	0.35506	.	0.188598	0.42964	D	0.000637	T	0.18635	0.0447	L	0.27053	0.805	0.09310	N	1	P;P	0.52692	0.955;0.935	B;P	0.44623	0.267;0.455	T	0.06075	-1.0847	10	0.48119	T	0.1	-9.1123	8.11	0.30909	0.0:0.6712:0.0:0.3288	.	957;733	Q9H987;Q9H987-2	SYP2L_HUMAN;.	Q	733;957	ENSP00000361964:R733Q;ENSP00000378289:R957Q	ENSP00000361964:R733Q	R	-	2	0	SYNPO2L	75076546	0.646000	0.27295	0.179000	0.23059	0.991000	0.79684	1.589000	0.36644	0.665000	0.31066	0.561000	0.74099	CGA	SYNPO2L	-	NULL		0.642	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	C	NM_024875		75406540	-1	no_errors	ENST00000394810	ensembl	human	known	70_37	missense	SNP	0.011	T	T	75406540	C	T	75406540	3	4	131	1	0	0	0	0	1	0	0	0	15488	884	31	1	67	1	SYNPO2L	10	75406540	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1964329	75406540	60128207	1111	21251										
VCL	7414	genome.wustl.edu	37	chr10	75834615	75834615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaaattaatgagataattcGtgtgttacaactcacctctt	6	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:75834615G>A	ENST00000211998.4	+	6	831	c.737G>A	c.(736-738)cGt>cAt	p.R246H	VCL_ENST00000372755.3_Missense_Mutation_p.R246H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	246	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GAGATAATTCGTGTGTTACAA	0.403																																																	0													86	89	88					10																	75834615		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.737G>A	10.37:g.75834615G>A	ENSP00000211998:p.Arg246His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R246H	ENST00000211998.4	37	c.737	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.497093	0.96355	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.41400	1.0;1.0	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.981;0.988	T	0.73075	-0.4097	10	0.87932	D	0	.	20.0895	0.97812	0.0:0.0:1.0:0.0	.	246;246	P18206-2;P18206	.;VINC_HUMAN	H	246;246;153;173	ENSP00000361841:R246H;ENSP00000211998:R246H	ENSP00000211998:R246H	R	+	2	0	VCL	75504621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.741000	0.93983	0.650000	0.86243	CGT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.403	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		G	NM_003373, NM_014000		75834615	1	no_errors	ENST00000211998	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75834615	G	A	75834615	3	1	131	1	0	0	0	0	1	0	0	0	17170	1145	40	2	759	2	VCL	10	75834615	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	428075	75834615	59700132	1112	21252										
GRID1	2894	genome.wustl.edu	37	chr10	87628911	87628911	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagggcactatggaccagAtccaggatctccgggtcact	11	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:87628911A>C	ENST00000327946.7	-	6	892	c.807T>G	c.(805-807)gaT>gaG	p.D269E		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	269					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TATGGACCAGATCCAGGATCT	0.502										Multiple Myeloma(13;0.14)																																							0													140	125	130					10																	87628911		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.807T>G	10.37:g.87628911A>C	ENSP00000330148:p.Asp269Glu		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D269E	ENST00000327946.7	37	c.807	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	A	4.059	0.008674	0.07912	.	.	ENSG00000182771	ENST00000327946	D	0.81908	-1.55	5.82	0.809	0.18725	Extracellular ligand-binding receptor (1);	0.044244	0.85682	D	0.000000	T	0.39835	0.1093	N	0.00146	-1.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50642	-0.8804	10	0.02654	T	1	.	5.9713	0.19353	0.4274:0.2899:0.2828:0.0	.	269	Q9ULK0	GRID1_HUMAN	E	269	ENSP00000330148:D269E	ENSP00000330148:D269E	D	-	3	2	GRID1	87618891	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.842000	0.39250	0.115000	0.18071	-0.912000	0.02778	GAT	GRID1	-	pfam_ANF_lig-bd_rcpt		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	A	XM_043613		87628911	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87628911	A	C	87628911	3	2	131	1	0	0	0	0	1	0	0	0	6791	330	12	5	2266	5	GRID1	10	87628911	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	11794296	87628911	47905836	1113	21253										
FAM35A	54537	genome.wustl.edu	37	chr10	88911902	88911902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaagataaaaggcggagtcCtgtaaataaagggaatgtaa	12	3	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:88911902C>A	ENST00000298784.1	+	3	905	c.791C>A	c.(790-792)cCt>cAt	p.P264H	FAM35A_ENST00000298786.4_Missense_Mutation_p.P264H|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	264										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGGCGGAGTCCTGTAAATAAA	0.378																																					Ovarian(175;703 2004 25460 32514 43441)												0													23	24	23					10																	88911902		2186	4290	6476	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.791C>A	10.37:g.88911902C>A	ENSP00000298784:p.Pro264His		O95885|Q9H991	Missense_Mutation	SNP	NULL	p.P264H	ENST00000298784.1	37	c.791	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	c	3.425	-0.117256	0.06838	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.22336	1.96;1.96;1.96	3.79	-0.0422	0.13864	.	1.879090	0.03072	N	0.157336	T	0.12860	0.0312	N	0.22421	0.69	0.09310	N	1	P	0.36048	0.534	B	0.35550	0.205	T	0.15954	-1.0419	10	0.15499	T	0.54	-0.1906	3.8581	0.08984	0.2618:0.4493:0.2058:0.0831	.	264	Q86V20	FA35A_HUMAN	H	264	ENSP00000298786:P264H;ENSP00000298784:P264H;ENSP00000351064:P264H	ENSP00000298784:P264H	P	+	2	0	FAM35A	88901882	0.000000	0.05858	0.002000	0.10522	0.255000	0.26057	-0.268000	0.08607	0.135000	0.18707	0.537000	0.68136	CCT	FAM35A	-	NULL		0.378	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	C	NM_019054		88911902	1	no_errors	ENST00000298786	ensembl	human	known	70_37	missense	SNP	0.000	A	A	88911902	C	A	88911902	3	1	131	1	0	0	0	0	1	0	0	0	5571	681	24	4	793	4	FAM35A	10	88911902	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1282991	88911902	46622845	1114	21254										
PTEN	5728	genome.wustl.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	14	4	0	1	rs121913292|rs121909229		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139	129	133					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89692905	1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89692905	G	A	89692905	3	1	131	1	0	0	0	0	1	0	0	0	12765	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	781003	89692905	45841842	1115	21255										
PTEN	5728	genome.wustl.edu	37	chr10	89720822	89720822	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttactttaacaaaaaatgatCttgacaaagcaaataaagac	4	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:89720822C>T	ENST00000371953.3	+	8	2330	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	325	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAAAATGATCTTGACAAAGC	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)											82	84	83					10																	89720822		2203	4299	6502	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.973C>T	10.37:g.89720822C>T	ENSP00000361021:p.Leu325Phe		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L325F	ENST00000371953.3	37	c.973	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369088	0.82463	.	.	ENSG00000171862	ENST00000371953	D	0.92048	-2.96	5.37	4.46	0.54185	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.82823	2.61	0.58432	D	0.999998	D	0.55385	0.971	P	0.56434	0.798	D	0.94059	0.7325	9	.	.	.	-9.458	10.8688	0.46870	0.0:0.8546:0.0:0.1454	.	325	P60484	PTEN_HUMAN	F	325	ENSP00000361021:L325F	.	L	+	1	0	PTEN	89710802	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.379000	0.44318	2.516000	0.84829	0.591000	0.81541	CTT	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89720822	1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89720822	C	T	89720822	3	4	131	1	0	0	0	0	1	0	0	0	12765	913	32	1	1003	1	PTEN	10	89720822	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	27917	89720822	45813925	1116	21256										
IFIT2	3433	genome.wustl.edu	37	chr10	91066926	91066926	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgtaaaaataaaccagaaaTcaagggagaaagaaaagatg	10	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:91066926T>G	ENST00000371826.3	+	2	1382	c.1213T>G	c.(1213-1215)Tca>Gca	p.S405A	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	405					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAACCAGAAATCAAGGGAGAA	0.403																																																	0													101	94	96					10																	91066926		1835	4102	5937	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1213T>G	10.37:g.91066926T>G	ENSP00000360891:p.Ser405Ala		Q5T767	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S405A	ENST00000371826.3	37	c.1213	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835590	0.32421	.	.	ENSG00000119922	ENST00000371826	T	0.17528	2.27	4.58	2.2	0.27929	Tetratricopeptide-like helical (1);	0.382752	0.23612	U	0.046338	T	0.17323	0.0416	M	0.73962	2.25	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.18999	-1.0319	10	0.87932	D	0	-2.7771	4.9574	0.14048	0.283:0.0788:0.0:0.6382	.	405	P09913	IFIT2_HUMAN	A	405	ENSP00000360891:S405A	ENSP00000360891:S405A	S	+	1	0	IFIT2	91056906	0.000000	0.05858	0.023000	0.16930	0.208000	0.24298	0.190000	0.17057	0.478000	0.27488	0.533000	0.62120	TCA	IFIT2	-	NULL		0.403	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1	T	NM_001547		91066926	1	no_errors	ENST00000371826	ensembl	human	known	70_37	missense	SNP	0.011	G	G	91066926	T	G	91066926	3	3	131	1	0	0	0	0	1	0	0	0	7543	1435	50	5	1219	5	IFIT2	10	91066926	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1346104	91066926	44467821	1117	21257										
IFIT1B	439996	genome.wustl.edu	37	chr10	91143778	91143778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaggacaggaagctgaaggAgaaaagtacattgaagaagc	14	4	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:91143778A>G	ENST00000371809.3	+	2	788	c.708A>G	c.(706-708)ggA>ggG	p.G236G	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	236										endometrium(2)|large_intestine(3)|lung(8)	13						AAGCTGAAGGAGAAAAGTACA	0.428																																																	0													162	174	170					10																	91143778		2203	4300	6503	SO:0001819	synonymous_variant	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.708A>G	10.37:g.91143778A>G			A7E245	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G236	ENST00000371809.3	37	c.708	CCDS31242.1	10																																																																																			IFIT1B	-	pfscan_TPR-contain_dom		0.428	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	A	NM_001010987		91143778	1	no_errors	ENST00000371809	ensembl	human	known	70_37	silent	SNP	0.989	G	G	91143778	A	G	91143778	2	3	131	1	0	0	0	0	0	0	0	1	7542	291	11	5		5	IFIT1B	10	91143778	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	76852	91143778	44390969	1118	21258										
PCGF5	84333	genome.wustl.edu	37	chr10	93021139	93021139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaactgtgggaactattaaAaaatttctaagtttaaaact	6	4	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:93021139A>C	ENST00000336126.5	+	7	763	c.531A>C	c.(529-531)aaA>aaC	p.K177N	PCGF5_ENST00000543648.1_Missense_Mutation_p.K177N	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAACTATTAAAAAATTTCTAA	0.264																																					Colon(178;732 2696 46441 50370)												0													24	28	26					10																	93021139		2178	4254	6432	SO:0001583	missense	84333			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.531A>C	10.37:g.93021139A>C	ENSP00000337500:p.Lys177Asn		B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K177N	ENST00000336126.5	37	c.531	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006199	0.74932	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.53857	0.6;0.6	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75354	-0.3347	10	0.72032	D	0.01	-23.5085	8.0482	0.30562	0.808:0.0:0.192:0.0	.	177	Q86SE9	PCGF5_HUMAN	N	177	ENSP00000445704:K177N;ENSP00000337500:K177N	ENSP00000337500:K177N	K	+	3	2	PCGF5	93011119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.025000	0.57225	2.159000	0.67721	0.459000	0.35465	AAA	PCGF5	-	NULL		0.264	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	A	NM_032373		93021139	1	no_errors	ENST00000336126	ensembl	human	known	70_37	missense	SNP	1.000	C	C	93021139	A	C	93021139	3	2	131	1	0	0	0	0	1	0	0	0	11601	11	1	5	553	5	PCGF5	10	93021139	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1877361	93021139	42513608	1119	21259										
IDE	3416	genome.wustl.edu	37	chr10	94234652	94234652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccacttcagtcatcagcaAgcggaggtagtacatggcat	12	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:94234652A>C	ENST00000265986.6	-	17	2118	c.2062T>G	c.(2062-2064)Ttg>Gtg	p.L688V	IDE_ENST00000371581.5_Missense_Mutation_p.L133V|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	688					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	GTCATCAGCAAGCGGAGGTAG	0.403																																																	0													92	89	90					10																	94234652		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2062T>G	10.37:g.94234652A>C	ENSP00000265986:p.Leu688Val		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.L688V	ENST00000265986.6	37	c.2062	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946702	0.34377	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.30448	1.53;1.53	5.65	-2.63	0.06133	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000002	T	0.20577	0.0495	L	0.37507	1.11	0.58432	D	0.999997	B;B	0.22683	0.073;0.02	B;B	0.25506	0.044;0.061	T	0.08411	-1.0723	10	0.23302	T	0.38	-7.8667	12.3928	0.55368	0.3007:0.0:0.6993:0.0	.	688;133	P14735;B3KSB8	IDE_HUMAN;.	V	688;133	ENSP00000265986:L688V;ENSP00000360637:L133V	ENSP00000265986:L688V	L	-	1	2	IDE	94224632	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	1.527000	0.35975	-0.393000	0.07739	-0.361000	0.07541	TTG	IDE	-	superfamily_Metalloenz_metal-bd		0.403	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	A	NM_004969		94234652	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	0.996	C	C	94234652	A	C	94234652	3	2	131	1	0	0	0	0	1	0	0	0	7513	69	3	5	1033	5	IDE	10	94234652	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1213513	94234652	41300095	1120	21260										
IDE	3416	genome.wustl.edu	37	chr10	94264579	94264579	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctggtctgagtttatcgaGaaccatctctattaagtcag	8	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:94264579G>T	ENST00000265986.6	-	11	1458	c.1402C>A	c.(1402-1404)Ctc>Atc	p.L468I		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	468					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	AGTTTATCGAGAACCATCTCT	0.308																																																	0													52	50	51					10																	94264579		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1402C>A	10.37:g.94264579G>T	ENSP00000265986:p.Leu468Ile		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.L468I	ENST00000265986.6	37	c.1402	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648440	0.67358	.	.	ENSG00000119912	ENST00000265986	T	0.44083	0.93	5.04	4.13	0.48395	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000002	T	0.51601	0.1684	M	0.67397	2.05	0.80722	D	1	B	0.34264	0.446	P	0.47603	0.551	T	0.54583	-0.8272	10	0.54805	T	0.06	-11.7582	10.3802	0.44108	0.1805:0.0:0.8195:0.0	.	468	P14735	IDE_HUMAN	I	468	ENSP00000265986:L468I	ENSP00000265986:L468I	L	-	1	0	IDE	94254559	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.135000	0.64777	2.510000	0.84645	0.467000	0.42956	CTC	IDE	-	superfamily_Metalloenz_metal-bd		0.308	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	G	NM_004969		94264579	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94264579	G	T	94264579	3	4	131	1	0	0	0	0	1	0	0	0	7513	942	33	3	1717	3	IDE	10	94264579	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	29927	94264579	41270168	1121	21261										
CYP26A1	1592	genome.wustl.edu	37	chr10	94835604	94835604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cactaaagcaatcttcaaccGaactcctctttggaggacac	6	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:94835604G>A	ENST00000224356.4	+	5	931	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	CYP26A1_ENST00000371531.1_Missense_Mutation_p.E227K|CYP26A1_ENST00000394139.1_Missense_Mutation_p.E227K	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	296					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ATCTTCAACCGAACTCCTCTT	0.493																																																	0													86	83	84					10																	94835604		2203	4300	6503	SO:0001583	missense	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.886G>A	10.37:g.94835604G>A	ENSP00000224356:p.Glu296Lys		B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.E296K	ENST00000224356.4	37	c.886	CCDS7426.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.526754	0.96431	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.70164	-0.46;-0.46;-0.46	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.957	T	0.76623	-0.2891	10	0.13470	T	0.59	-17.5918	19.0472	0.93027	0.0:0.0:1.0:0.0	.	227;296	B3KNI4;O43174	.;CP26A_HUMAN	K	227;296;227	ENSP00000360586:E227K;ENSP00000224356:E296K;ENSP00000377695:E227K	ENSP00000224356:E296K	E	+	1	0	CYP26A1	94825594	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	8.954000	0.93051	2.749000	0.94314	0.655000	0.94253	GAA	CYP26A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.493	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	HGNC	protein_coding	OTTHUMT00000049408.3	G			94835604	1	no_errors	ENST00000224356	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94835604	G	A	94835604	3	1	131	1	0	0	0	0	1	0	0	0	4160	1059	37	1	904	1	CYP26A1	10	94835604	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	571025	94835604	40699143	1122	21262										
MYOF	26509	genome.wustl.edu	37	chr10	95082920	95082920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgttccagatgatcacacGcaggtagtatctgcaagaag	12	8	2	3	rs558864109		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:95082920G>A	ENST00000359263.4	-	48	5370	c.5371C>T	c.(5371-5373)Cgt>Tgt	p.R1791C	MYOF_ENST00000371501.4_Missense_Mutation_p.R1791C|MYOF_ENST00000358334.5_Missense_Mutation_p.R1778C|MYOF_ENST00000371502.4_Missense_Mutation_p.R1781C|MYOF_ENST00000485212.1_5'Flank	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1791					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGATCACACGCAGGTAGTAT	0.473													G|||	1	0.000199681	0	0	5008	,	,		20593	0.001		0	False		,,,				2504	0																0													261	243	249					10																	95082920		1964	4141	6105	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5371C>T	10.37:g.95082920G>A	ENSP00000352208:p.Arg1791Cys		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.R1791C	ENST00000359263.4	37	c.5371	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462636	0.84425	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;T	0.87029	-2.2;-2.2;-2.2;-0.77	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96602	0.9445	10	0.87932	D	0	-10.7742	19.2909	0.94098	0.0:0.0:1.0:0.0	.	1778;1791	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	C	1778;1791;1791;1781	ENSP00000351094:R1778C;ENSP00000352208:R1791C;ENSP00000360556:R1791C;ENSP00000360557:R1781C	ENSP00000351094:R1778C	R	-	1	0	MYOF	95072910	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.346000	0.65992	2.797000	0.96272	0.563000	0.77884	CGT	MYOF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	G	NM_013451		95082920	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95082920	G	A	95082920	3	1	131	1	0	0	0	0	1	0	0	0	10112	1087	38	2	842	2	MYOF	10	95082920	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	247316	95082920	40451827	1123	21263										
PLCE1	51196	genome.wustl.edu	37	chr10	96006107	96006107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttggatctttttgcagtgaAggctgtatacatgggccacc	11	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:96006107A>G	ENST00000371380.3	+	7	3060	c.2825A>G	c.(2824-2826)aAg>aGg	p.K942R	PLCE1_ENST00000371375.1_Missense_Mutation_p.K634R|PLCE1_ENST00000371385.3_Missense_Mutation_p.K634R|PLCE1_ENST00000260766.3_Missense_Mutation_p.K942R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	942					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGCAGTGAAGGCTGTATAC	0.473																																																	0													119	122	121					10																	96006107		1947	4142	6089	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2825A>G	10.37:g.96006107A>G	ENSP00000360431:p.Lys942Arg		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.K942R	ENST00000371380.3	37	c.2825	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677371	0.88445	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.66939	2.045	0.48696	D	0.99969	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.99;0.996;0.99	T	0.60505	-0.7250	10	0.54805	T	0.06	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	942;634;942	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	R	942;942;634;634	ENSP00000260766:K942R;ENSP00000360431:K942R;ENSP00000360438:K634R;ENSP00000360426:K634R	ENSP00000260766:K942R	K	+	2	0	PLCE1	95996097	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	8.789000	0.91839	2.330000	0.79161	0.477000	0.44152	AAG	PLCE1	-	NULL		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	A	NM_016341		96006107	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96006107	A	G	96006107	3	3	131	1	0	0	0	0	1	0	0	0	12058	72	3	5	3137	5	PLCE1	10	96006107	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	923187	96006107	39528640	1124	21264										
ZNF518A	9849	genome.wustl.edu	37	chr10	97917657	97917657	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atactttcagggaaagcaagTtcagaaaaagaaatgacttt	8	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:97917657T>C	ENST00000534948.1	+	0	2435							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGAAAGCAAGTTCAGAAAAAG	0.323																																																	0													110	114	113					10																	97917657		1841	4085	5926			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917657T>C			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.323	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		T	NM_014803		97917657	1	no_errors	ENST00000316045	ensembl	human	known	70_37	rna	SNP	0.023	C	C	97917657	T	C	97917657	1	2	131	0	1	0	0	0	0	0	0	0	17992	1722	60	5		5	ZNF518A	10	97917657	RNA	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1911550	97917657	37617090	1125	21265										
BLNK	29760	genome.wustl.edu	37	chr10	97956751	97956751	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatatactcgcttattaaaGaatacaactagtgtatatgg	6	5	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:97956751G>T	ENST00000224337.5	-	16	1305	c.1164C>A	c.(1162-1164)ttC>ttA	p.F388L	BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Missense_Mutation_p.F365L|BLNK_ENST00000413476.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	388	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GCTTATTAAAGAATACAACTA	0.318																																																	0													84	87	86					10																	97956751		2203	4298	6501	SO:0001583	missense	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1164C>A	10.37:g.97956751G>T	ENSP00000224337:p.Phe388Leu		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.F388L	ENST00000224337.5	37	c.1164	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052057	0.75960	.	.	ENSG00000095585	ENST00000224337;ENST00000371176	T;T	0.61510	0.1;0.1	5.06	2.0	0.26442	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	N	0.20881	0.62	0.80722	D	1	P;D;P	0.69078	0.905;0.997;0.88	P;D;P	0.83275	0.836;0.996;0.89	T	0.49762	-0.8905	10	0.09590	T	0.72	-13.8309	7.7818	0.29070	0.3572:0.0:0.6428:0.0	.	365;365;388	Q8WV28-2;Q2MD52;Q8WV28	.;.;BLNK_HUMAN	L	388;365	ENSP00000224337:F388L;ENSP00000360218:F365L	ENSP00000224337:F388L	F	-	3	2	BLNK	97946741	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.481000	0.22260	0.555000	0.29079	0.655000	0.94253	TTC	BLNK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.318	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	G	NM_013314		97956751	-1	no_errors	ENST00000224337	ensembl	human	known	70_37	missense	SNP	1.000	T	T	97956751	G	T	97956751	3	4	131	1	0	0	0	0	1	0	0	0	1448	933	33	3	214	3	BLNK	10	97956751	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	39094	97956751	37577996	1126	21266										
DHDPSL	112817	genome.wustl.edu	37	chr10	99361706	99361706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcacggggcaatgggaagatGcccagaaactgcagcaccgc	14	12	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:99361706G>T	ENST00000370646.4	+	6	1154	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	HOGA1_ENST00000370647.4_Missense_Mutation_p.A102S|PI4K2A_ENST00000555577.1_Missense_Mutation_p.A102S|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A102S	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	265					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						ATGGGAAGATGCCCAGAAACT	0.677																																																	0													29	27	28					10																	99361706		2202	4300	6502	SO:0001583	missense	55361			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.793G>T	10.37:g.99361706G>T	ENSP00000359680:p.Ala265Ser		A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.A102S	ENST00000370646.4	37	c.304	CCDS7467.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.300391|5.300391	0.95601|0.95601	.|.	.|.	ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967|ENSG00000241935	ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649|ENST00000370642	D;D;D;D|.	0.97089|.	-4.24;-4.24;-2.58;-2.58|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Aldolase-type TIM barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.992;1.0;0.999|.	D;D;D|.	0.91635|.	0.989;0.999;0.999|.	D|D	0.88768|0.88768	0.3262|0.3262	10|5	0.51188|.	T|.	0.08|.	-23.5218|-23.5218	19.1105|19.1105	0.93314|0.93314	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102;102;265|.	E9PAM4;Q86XE5-3;Q86XE5|.	.;.;HOGA1_HUMAN|.	S|F	102;265;102;102|68	ENSP00000359681:A102S;ENSP00000359680:A265S;ENSP00000452243:A102S;ENSP00000359683:A102S|.	ENSP00000359680:A265S|.	A|C	+|+	1|2	0|0	PI4K2A;HOGA1;RP11-548K23.11|HOGA1	99351696|99351696	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.849000|0.849000	0.48306|0.48306	9.347000|9.347000	0.97059|0.97059	2.530000|2.530000	0.85305|0.85305	0.561000|0.561000	0.74099|0.74099	GCC|TGC	PI4K2A	-	NULL		0.677	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049726.1	G	NM_138413		99361706	1	no_errors	ENST00000555577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99361706	G	T	99361706	3	4	131	1	0	0	0	0	1	0	0	0	4490	1319	46	4	815	4	DHDPSL	10	99361706	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1404955	99361706	36173041	1127	21267										
HPSE2	60495	genome.wustl.edu	37	chr10	100995386	100995386	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acatcaagtagaatcagggtCttttccttcaaacctgcagc	7	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:100995386C>A	ENST00000370552.3	-	1	233	c.174G>T	c.(172-174)aaG>aaT	p.K58N	HPSE2_ENST00000404542.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370549.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370546.1_Missense_Mutation_p.K58N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	58					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.K58N(6)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAATCAGGGTCTTTTCCTTCA	0.522																																																	6	Substitution - Missense(6)	large_intestine(6)											180	178	179					10																	100995386		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.174G>T	10.37:g.100995386C>A	ENSP00000359583:p.Lys58Asn		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.K58N	ENST00000370552.3	37	c.174	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869121	0.32977	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00477	7.14;7.14;7.14;7.14	5.8	5.8	0.92144	.	0.052749	0.64402	D	0.000001	T	0.00328	0.0010	N	0.14661	0.345	0.30882	N	0.731298	P;P;P;P	0.40731	0.557;0.728;0.59;0.455	B;B;B;B	0.38803	0.221;0.282;0.282;0.146	T	0.70619	-0.4822	10	0.35671	T	0.21	-12.1322	15.1633	0.72801	0.0:0.9311:0.0:0.0689	.	58;58;58;58	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	N	58	ENSP00000359583:K58N;ENSP00000359580:K58N;ENSP00000359577:K58N;ENSP00000384384:K58N	ENSP00000359577:K58N	K	-	3	2	HPSE2	100985376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	2.758000	0.94735	0.561000	0.74099	AAG	HPSE2	-	NULL		0.522	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	C	NM_021828		100995386	-1	no_errors	ENST00000370552	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100995386	C	A	100995386	3	1	131	1	0	0	0	0	1	0	0	0	7365	912	32	3	1690	3	HPSE2	10	100995386	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1633680	100995386	34539361	1128	21268										
ABCC2	1244	genome.wustl.edu	37	chr10	101611285	101611285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcctagacaacgggaagaTtatagagtgcggcagccctg	14	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:101611285T>G	ENST00000370449.4	+	32	4648	c.4535T>G	c.(4534-4536)aTt>aGt	p.I1512S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1512	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AACGGGAAGATTATAGAGTGC	0.413																																																	0													112	113	113					10																	101611285		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4535T>G	10.37:g.101611285T>G	ENSP00000359478:p.Ile1512Ser		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.I1512S	ENST00000370449.4	37	c.4535	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336334	0.60963	.	.	ENSG00000023839	ENST00000370449	T	0.81247	-1.47	4.58	3.45	0.39498	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90551	0.4509	10	0.87932	D	0	-15.4826	9.7236	0.40317	0.0:0.083:0.0:0.917	.	1512	Q92887	MRP2_HUMAN	S	1512	ENSP00000359478:I1512S	ENSP00000359478:I1512S	I	+	2	0	ABCC2	101601275	1.000000	0.71417	0.925000	0.36789	0.572000	0.35998	7.464000	0.80887	0.784000	0.33661	0.459000	0.35465	ATT	ABCC2	-	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.413	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	T	NM_000392		101611285	1	no_errors	ENST00000370449	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101611285	T	G	101611285	3	3	131	1	0	0	0	0	1	0	0	0	53	1493	52	5	4661	5	ABCC2	10	101611285	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	615899	101611285	33923462	1129	21269										
HIF1AN	55662	genome.wustl.edu	37	chr10	102296254	102296254	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagagaatattggcaatggAgacttctctgtgtacagtgc	11	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:102296254A>C	ENST00000299163.6	+	2	364	c.264A>C	c.(262-264)ggA>ggC	p.G88G	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	88	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TTGGCAATGGAGACTTCTCTG	0.458																																																	0													108	108	108					10																	102296254		2203	4300	6503	SO:0001819	synonymous_variant	55662			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"Peptide-aspartate beta-dioxygenase"	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.264A>C	10.37:g.102296254A>C			D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G88	ENST00000299163.6	37	c.264	CCDS7498.1	10																																																																																			HIF1AN	-	NULL		0.458	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	A	NM_017902		102296254	1	no_errors	ENST00000299163	ensembl	human	known	70_37	silent	SNP	0.978	C	C	102296254	A	C	102296254	2	2	131	1	0	0	0	0	0	0	0	1	7124	291	11	5		5	HIF1AN	10	102296254	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	684969	102296254	33238493	1130	21270										
C10orf2	56652	genome.wustl.edu	37	chr10	102748733	102748733	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gattaccactgattagtcgtCgagatgctgaggtggtactg	13	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:102748733C>T	ENST00000311916.2	+	1	951	c.766C>T	c.(766-768)Cga>Tga	p.R256*	MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R256*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	256					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GATTAGTCGTCGAGATGCTGA	0.562																																																	0													115	102	106					10																	102748733		2203	4300	6503	SO:0001587	stop_gained	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.766C>T	10.37:g.102748733C>T	ENSP00000309595:p.Arg256*		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.R256*	ENST00000311916.2	37	c.766	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977483	0.74360	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	5.54	2.48	0.30137	.	0.246105	0.36167	N	0.002746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-24.9814	15.1495	0.72687	0.4712:0.5288:0.0:0.0	.	.	.	.	X	256	.	ENSP00000309595:R256X	R	+	1	2	C10orf2	102738723	0.030000	0.19436	0.712000	0.30502	0.571000	0.35966	0.316000	0.19469	0.274000	0.22072	-2.048000	0.00412	CGA	C10orf2	-	NULL		0.562	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	C	NM_021830		102748733	1	no_errors	ENST00000311916	ensembl	human	known	70_37	nonsense	SNP	0.407	T	T	102748733	C	T	102748733	4	4	131	1	0	0	0	0	0	1	0	0	1601	876	31	1	768	1	C10orf2	10	102748733	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	452479	102748733	32786014	1131	21271										
PDZD7	79955	genome.wustl.edu	37	chr10	102783339	102783339	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcccattcacctccgtgatCttgtcccccacgcacaggcc	7	19	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:102783339C>A	ENST00000370215.3	-	4	621	c.396G>T	c.(394-396)aaG>aaT	p.K132N	PDZD7_ENST00000470414.1_Missense_Mutation_p.K132N	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	132	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCTCCGTGATCTTGTCCCCCA	0.652																																																	0													75	63	67					10																	102783339		2203	4300	6503	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.396G>T	10.37:g.102783339C>A	ENSP00000359234:p.Lys132Asn		D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K132N	ENST00000370215.3	37	c.396	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710863	0.68730	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.31769	1.48	5.05	3.93	0.45458	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.78344	2.41	0.46725	D	0.999173	D;P	0.56521	0.976;0.873	D;B	0.69479	0.964;0.306	T	0.58440	-0.7636	10	0.72032	D	0.01	.	12.2698	0.54700	0.0:0.8534:0.0:0.1466	.	132;132	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	N	132	ENSP00000359234:K132N	ENSP00000359234:K132N	K	-	3	2	PDZD7	102773329	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.952000	0.40343	2.337000	0.79520	0.561000	0.74099	AAG	PDZD7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.652	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	C	NM_024895		102783339	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102783339	C	A	102783339	3	1	131	1	0	0	0	0	1	0	0	0	11728	912	32	3	1185	3	PDZD7	10	102783339	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	34606	102783339	32751408	1132	21272										
NOLC1	9221	genome.wustl.edu	37	chr10	103920264	103920264	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagccagctggtaccaccaaGaattcttcaaataagccagc	7	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:103920264G>T	ENST00000605788.1	+	10	1390	c.1155G>T	c.(1153-1155)aaG>aaT	p.K385N	NOLC1_ENST00000488254.2_Missense_Mutation_p.K386N|NOLC1_ENST00000405356.1_Missense_Mutation_p.K395N|NOLC1_ENST00000603742.1_Missense_Mutation_p.K104N	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	385	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GTACCACCAAGAATTCTTCAA	0.527																																																	0													61	64	63					10																	103920264		2203	4300	6503	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1155G>T	10.37:g.103920264G>T	ENSP00000474710:p.Lys385Asn		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.K395N	ENST00000605788.1	37	c.1185	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	6.573	0.473964	0.12521	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.46819	0.86	4.3	0.314	0.15847	.	0.164056	0.42964	D	0.000627	T	0.57844	0.2081	M	0.77103	2.36	0.36277	D	0.855567	D;D;D	0.67145	0.996;0.996;0.993	D;D;P	0.64237	0.923;0.923;0.84	T	0.59359	-0.7469	10	0.36615	T	0.2	-7.4344	5.0709	0.14606	0.3321:0.0:0.5284:0.1394	.	386;395;385	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	N	395;385	ENSP00000385410:K395N	ENSP00000359024:K385N	K	+	3	2	NOLC1	103910254	0.971000	0.33674	0.201000	0.23476	0.032000	0.12392	0.516000	0.22817	0.063000	0.16370	-0.136000	0.14681	AAG	NOLC1	-	NULL		0.527	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	G	NM_004741		103920264	1	no_errors	ENST00000405356	ensembl	human	known	70_37	missense	SNP	0.627	T	T	103920264	G	T	103920264	3	4	131	1	0	0	0	0	1	0	0	0	10553	933	33	3	1193	3	NOLC1	10	103920264	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1136925	103920264	31614483	1133	21273										
GBF1	8729	genome.wustl.edu	37	chr10	104018760	104018760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtggttggggccatcaaacGaaatgcccgatggagcaccc	13	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:104018760G>A	ENST00000369983.3	+	2	325	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	22					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCCATCAAACGAAATGCCCGA	0.413																																																	0													121	130	127					10																	104018760		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.65G>A	10.37:g.104018760G>A	ENSP00000359000:p.Arg22Gln		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.R22Q	ENST00000369983.3	37	c.65	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.922339	0.97105	.	.	ENSG00000107862	ENST00000369983	T	0.12255	2.7	5.95	5.95	0.96441	.	0.094130	0.47455	D	0.000222	T	0.36744	0.0978	M	0.63428	1.95	0.58432	D	0.999992	D;D;D;D	0.89917	0.997;0.994;0.985;1.0	P;P;P;D	0.66847	0.826;0.717;0.599;0.947	T	0.00482	-1.1713	10	0.45353	T	0.12	-4.7283	20.3931	0.98965	0.0:0.0:1.0:0.0	.	22;22;22;22	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	Q	22	ENSP00000359000:R22Q	ENSP00000359000:R22Q	R	+	2	0	GBF1	104008750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.735000	0.91549	2.824000	0.97209	0.655000	0.94253	CGA	GBF1	-	NULL		0.413	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104018760	1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104018760	G	A	104018760	3	1	131	1	0	0	0	0	1	0	0	0	6290	1058	37	1	67	1	GBF1	10	104018760	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	98496	104018760	31515987	1134	21274										
SFXN2	118980	genome.wustl.edu	37	chr10	104491964	104491964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctcggatcaccatgtcagCtcctgggatgagtaagatgg	12	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:104491964C>T	ENST00000369893.5	+	8	877	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	237					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ACCATGTCAGCTCCTGGGATG	0.532																																																	0													138	128	131					10																	104491964		2203	4300	6503	SO:0001583	missense	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.710C>T	10.37:g.104491964C>T	ENSP00000358909:p.Ala237Val		Q5JSM6	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.A237V	ENST00000369893.5	37	c.710	CCDS7539.1	10	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737868	0.89573	.	.	ENSG00000156398	ENST00000369893	T	0.27557	1.66	5.94	5.94	0.96194	.	0.044257	0.85682	D	0.000000	T	0.48822	0.1521	L	0.52905	1.665	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.20940	-1.0260	10	0.07644	T	0.81	-13.3404	19.3514	0.94389	0.0:1.0:0.0:0.0	.	237	Q96NB2	SFXN2_HUMAN	V	237	ENSP00000358909:A237V	ENSP00000358909:A237V	A	+	2	0	SFXN2	104481954	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.498000	0.81546	2.826000	0.97356	0.561000	0.74099	GCT	SFXN2	-	pfam_Mtc,tigrfam_Mtc		0.532	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	C	XM_058359		104491964	1	no_errors	ENST00000369893	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104491964	C	T	104491964	3	4	131	1	0	0	0	0	1	0	0	0	14225	797	28	4	736	4	SFXN2	10	104491964	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	473204	104491964	31042783	1135	21275										
NT5C2	22978	genome.wustl.edu	37	chr10	104861027	104861027	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgtgttcagaatgtaaaatCtttcagtatcatctcgctgg	9	7	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:104861027C>A	ENST00000404739.3	-	5	469	c.446G>T	c.(445-447)aGa>aTa	p.R149I	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R120I|NT5C2_ENST00000343289.5_Missense_Mutation_p.R149I			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	149					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AATGTAAAATCTTTCAGTATC	0.299																																																	0													91	98	96					10																	104861027		2203	4295	6498	SO:0001583	missense	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.446G>T	10.37:g.104861027C>A	ENSP00000383960:p.Arg149Ile		B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.R149I	ENST00000404739.3	37	c.446	CCDS7544.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569168	0.86439	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.96	5.96	0.96718	HAD-like domain (1);	0.045297	0.85682	D	0.000000	T	0.54759	0.1878	M	0.93197	3.39	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.50270	0.636;0.636	T	0.67749	-0.5590	10	0.87932	D	0	-23.4847	20.422	0.99049	0.0:1.0:0.0:0.0	.	120;149	B7Z382;P49902	.;5NTC_HUMAN	I	149;149;120;157;80;105	ENSP00000339479:R149I;ENSP00000383960:R149I;ENSP00000392236:R120I;ENSP00000396468:R157I;ENSP00000411330:R80I	ENSP00000339479:R149I	R	-	2	0	NT5C2	104851017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	AGA	NT5C2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.299	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	C	NM_012229		104861027	-1	no_errors	ENST00000343289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104861027	C	A	104861027	3	1	131	1	0	0	0	0	1	0	0	0	10711	913	32	3	1291	3	NT5C2	10	104861027	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	369063	104861027	30673720	1136	21276										
INA	9118	genome.wustl.edu	37	chr10	105048397	105048397	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgagaaatcaaatatagaaGaaaccaccatttcaagccaa	5	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105048397G>A	ENST00000369849.4	+	3	1520	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	491	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAATATAGAAGAAACCACCAT	0.338																																																	0													40	42	41					10																	105048397		2203	4300	6503	SO:0001583	missense	9118			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1471G>A	10.37:g.105048397G>A	ENSP00000358865:p.Glu491Lys		B1AQK0|Q9BRC5	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E491K	ENST00000369849.4	37	c.1471	CCDS7545.1	10	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114712	0.56505	.	.	ENSG00000148798	ENST00000369849	D	0.84370	-1.84	5.4	5.4	0.78164	.	0.354676	0.29239	N	0.012723	T	0.79411	0.4441	N	0.14661	0.345	0.48901	D	0.999727	P	0.48911	0.917	P	0.46172	0.506	T	0.83190	-0.0084	10	0.72032	D	0.01	.	16.4524	0.83996	0.0:0.0:1.0:0.0	.	491	Q16352	AINX_HUMAN	K	491	ENSP00000358865:E491K	ENSP00000358865:E491K	E	+	1	0	INA	105038387	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.029000	0.57253	2.691000	0.91804	0.557000	0.71058	GAA	INA	-	NULL		0.338	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INA	HGNC	protein_coding	OTTHUMT00000050145.1	G	NM_032727		105048397	1	no_errors	ENST00000369849	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105048397	G	A	105048397	3	1	131	1	0	0	0	0	1	0	0	0	7750	943	33	1	1481	1	INA	10	105048397	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	187370	105048397	30486350	1137	21277										
TAF5	6877	genome.wustl.edu	37	chr10	105141587	105141587	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaaaagcttcgtagtgtcaAacaagcatcaggtaactgag	9	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105141587A>T	ENST00000369839.3	+	6	1546	c.1523A>T	c.(1522-1524)aAa>aTa	p.K508I	TAF5_ENST00000351396.4_Missense_Mutation_p.K508I	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	508					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CGTAGTGTCAAACAAGCATCA	0.418																																																	0													160	146	151					10																	105141587		2203	4300	6503	SO:0001583	missense	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1523A>T	10.37:g.105141587A>T	ENSP00000358854:p.Lys508Ile		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K508I	ENST00000369839.3	37	c.1523	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821982	0.90873	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.81330	0.46;-1.48	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87501	0.6193	L	0.61218	1.895	0.80722	D	1	D;D	0.61697	0.99;0.976	D;P	0.64410	0.925;0.694	D	0.88251	0.2916	10	0.59425	D	0.04	-13.4483	15.97	0.80008	1.0:0.0:0.0:0.0	.	508;508	Q15542-2;Q15542	.;TAF5_HUMAN	I	508	ENSP00000358854:K508I;ENSP00000311024:K508I	ENSP00000311024:K508I	K	+	2	0	TAF5	105131577	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.189000	0.69895	0.459000	0.35465	AAA	TAF5	-	superfamily_WD40_repeat_dom		0.418	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	A			105141587	1	no_errors	ENST00000369839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105141587	A	T	105141587	3	4	131	1	0	0	0	0	1	0	0	0	15558	14	1	5	1545	5	TAF5	10	105141587	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	93190	105141587	30393160	1138	21278										
SLK	9748	genome.wustl.edu	37	chr10	105762554	105762554	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagacgacaaaactcaaaaaGatgtgatcagcaatacaagt	7	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105762554G>T	ENST00000369755.3	+	9	2163	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	SLK_ENST00000335753.4_Missense_Mutation_p.D540Y	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	540	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AACTCAAAAAGATGTGATCAG	0.433																																					NSCLC(111;540 1651 1927 4474 17706)												0													96	95	95					10																	105762554		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1618G>T	10.37:g.105762554G>T	ENSP00000358770:p.Asp540Tyr		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.D540Y	ENST00000369755.3	37	c.1618	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	8.079	0.771941	0.16051	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69561	-0.41;-0.41	6.03	3.08	0.35506	Protein kinase-like domain (1);	0.813538	0.11400	N	0.567953	T	0.52075	0.1712	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.45293	-0.9271	10	0.62326	D	0.03	.	7.7757	0.29035	0.1439:0.0:0.7243:0.1318	.	540;540	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Y	540	ENSP00000336824:D540Y;ENSP00000358770:D540Y	ENSP00000336824:D540Y	D	+	1	0	SLK	105752544	0.582000	0.26749	0.000000	0.03702	0.234000	0.25298	2.712000	0.47186	0.385000	0.24970	0.555000	0.69702	GAT	SLK	-	superfamily_Kinase-like_dom		0.433	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105762554	1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	0.005	T	T	105762554	G	T	105762554	3	4	131	1	0	0	0	0	1	0	0	0	14778	942	33	3	1652	3	SLK	10	105762554	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	620967	105762554	29772193	1139	21279										
SLK	9748	genome.wustl.edu	37	chr10	105768104	105768104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagaatatgctgaagaaccGaaagaaggaggtaagtgtaa	12	4	1	4	rs554070501		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105768104G>A	ENST00000369755.3	+	12	3319	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Missense_Mutation_p.R925Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	925					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTGAAGAACCGAAAGAAGGAG	0.328																																					NSCLC(111;540 1651 1927 4474 17706)												0													61	60	60					10																	105768104		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2774G>A	10.37:g.105768104G>A	ENSP00000358770:p.Arg925Gln		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.R925Q	ENST00000369755.3	37	c.2774	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440251	0.83993	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.28666	1.6;1.6	5.94	4.09	0.47781	Protein kinase-like domain (1);	0.065503	0.64402	D	0.000009	T	0.28134	0.0694	L	0.50333	1.59	0.48571	D	0.999672	D;D	0.55800	0.966;0.973	B;P	0.44561	0.422;0.453	T	0.03017	-1.1082	10	0.33940	T	0.23	.	8.6734	0.34165	0.2491:0.0:0.7509:0.0	.	925;925	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	925	ENSP00000336824:R925Q;ENSP00000358770:R925Q	ENSP00000336824:R925Q	R	+	2	0	SLK	105758094	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.862000	0.48388	1.522000	0.49001	0.650000	0.86243	CGA	SLK	-	pfam_PKK,superfamily_Kinase-like_dom		0.328	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105768104	1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105768104	G	A	105768104	3	1	131	1	0	0	0	0	1	0	0	0	14778	1058	37	1	2820	1	SLK	10	105768104	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5550	105768104	29766643	1140	21280										
C10orf78	119392	genome.wustl.edu	37	chr10	105882805	105882805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcactcctcaggcctctgcGaatccatcatctccctatac	5	17	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105882805G>A	ENST00000369727.3	+	2	115	c.96G>A	c.(94-96)gcG>gcA	p.A32A	SFR1_ENST00000336358.5_Silent_p.A94A|SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000369729.3_Silent_p.A19A	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	32					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AGGCCTCTGCGAATCCATCAT	0.388																																																	0													94	93	93					10																	105882805		2203	4300	6503	SO:0001819	synonymous_variant	119392			BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 78", "MEI5 recombination repair protein homolog (S. cerevisiae)"	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.96G>A	10.37:g.105882805G>A			A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Silent	SNP	pfam_Ds-recomb_repair_prot_Mei5	p.A94	ENST00000369727.3	37	c.282	CCDS31279.1	10																																																																																			SFR1	-	pfam_Ds-recomb_repair_prot_Mei5		0.388	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SFR1	HGNC	protein_coding	OTTHUMT00000050191.1	G	NM_145247		105882805	1	no_errors	ENST00000336358	ensembl	human	known	70_37	silent	SNP	0.000	A	A	105882805	G	A	105882805	2	1	131	1	0	0	0	0	0	0	0	1	1621	1045	37	1		1	C10orf78	10	105882805	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	114701	105882805	29651942	1141	21281										
SORCS3	22986	genome.wustl.edu	37	chr10	106974212	106974212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctacttaggtatcggcggatTgtgtccaacaactgcacaga	10	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:106974212T>C	ENST00000369701.3	+	18	2615	c.2388T>C	c.(2386-2388)atT>atC	p.I796I	SORCS3_ENST00000369699.4_Silent_p.I82I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	796					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCGGCGGATTGTGTCCAACA	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)												0													123	102	109					10																	106974212		2203	4300	6503	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2388T>C	10.37:g.106974212T>C			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.I796	ENST00000369701.3	37	c.2388	CCDS7558.1	10																																																																																			SORCS3	-	superfamily_PKD_dom,smart_VPS10		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	T	NM_014978		106974212	1	no_errors	ENST00000369701	ensembl	human	known	70_37	silent	SNP	0.988	C	C	106974212	T	C	106974212	2	2	131	1	0	0	0	0	0	0	0	1	14962	1800	63	5		5	SORCS3	10	106974212	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1091407	106974212	28560535	1142	21282										
GPAM	57678	genome.wustl.edu	37	chr10	113928264	113928264	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctccaagaattgctgctgtcGaagtaattcaactatatgct	7	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:113928264G>A	ENST00000348367.4	-	11	1110	c.913C>T	c.(913-915)Cga>Tga	p.R305*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.R305*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R305*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	305					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCTGCTGTCGAAGTAATTCA	0.393																																					Ovarian(161;1017 2606 18293 52943)												0													84	80	82					10																	113928264		2203	4300	6503	SO:0001587	stop_gained	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.913C>T	10.37:g.113928264G>A	ENSP00000265276:p.Arg305*		Q5VW51|Q86TA3	Nonsense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R305*	ENST00000348367.4	37	c.913	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.310855	0.98203	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.33	5.33	0.75918	.	0.165129	0.38837	N	0.001556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.3812	8.4369	0.32793	0.0794:0.0:0.7557:0.1649	.	.	.	.	X	305	.	ENSP00000265276:R305X	R	-	1	2	GPAM	113918254	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.409000	0.44583	2.506000	0.84524	0.637000	0.83480	CGA	GPAM	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.393	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	G	NM_020918		113928264	-1	no_errors	ENST00000348367	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	113928264	G	A	113928264	4	1	131	1	0	0	0	0	0	1	0	0	6607	1066	37	1	1621	1	GPAM	10	113928264	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	6954052	113928264	21606483	1143	21283										
ACSL5	51703	genome.wustl.edu	37	chr10	114169418	114169418	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggggagaagagtggaattgAgatcttatccctatatgatg	13	4	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:114169418A>C	ENST00000393081.1	+	7	993	c.686A>C	c.(685-687)gAg>gCg	p.E229A	ACSL5_ENST00000433418.1_Missense_Mutation_p.E229A|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.E229A|ACSL5_ENST00000356116.1_Missense_Mutation_p.E285A|RP11-324O2.3_ENST00000449782.2_RNA|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000369410.3_5'UTR|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.E229A	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	229					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGTGGAATTGAGATCTTATCC	0.468																																																	0													177	157	163					10																	114169418		2203	4300	6503	SO:0001583	missense	51703			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.686A>C	10.37:g.114169418A>C	ENSP00000376796:p.Glu229Ala		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E285A	ENST00000393081.1	37	c.854	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866920	0.72065	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	5.8	5.8	0.92144	AMP-dependent synthetase/ligase (1);	0.149573	0.64402	D	0.000015	T	0.25158	0.0611	L	0.58669	1.825	0.80722	D	1	P;P;P	0.52170	0.951;0.57;0.585	P;B;P	0.58660	0.843;0.211;0.507	T	0.00500	-1.1703	10	0.33141	T	0.24	-17.4514	15.1191	0.72429	1.0:0.0:0.0:0.0	.	229;285;229	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	A	229;229;285;229;229	ENSP00000346680:E229A;ENSP00000376796:E229A;ENSP00000348429:E285A;ENSP00000403647:E229A;ENSP00000346223:E229A	ENSP00000346223:E229A	E	+	2	0	ACSL5	114159408	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	8.927000	0.92846	2.214000	0.71695	0.482000	0.46254	GAG	ACSL5	-	pfam_AMP-dep_Synth/Lig		0.468	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	A	NM_016234		114169418	1	no_errors	ENST00000356116	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114169418	A	C	114169418	3	2	131	1	0	0	0	0	1	0	0	0	180	304	11	5	880	5	ACSL5	10	114169418	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	241154	114169418	21365329	1144	21284										
HABP2	3026	genome.wustl.edu	37	chr10	115343959	115343959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgctctagaatccaaataCgtgaagactgtgtgcttgcc	10	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:115343959C>T	ENST00000351270.3	+	11	1386	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y	HABP2_ENST00000542051.1_Silent_p.Y404Y	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	430	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.Y430Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AATCCAAATACGTGAAGACTG	0.507																																																	1	Substitution - coding silent(1)	large_intestine(1)											261	210	227					10																	115343959		2203	4300	6503	SO:0001819	synonymous_variant	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1290C>T	10.37:g.115343959C>T			A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Y430	ENST00000351270.3	37	c.1290	CCDS7577.1	10																																																																																			HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115343959	1	no_errors	ENST00000351270	ensembl	human	known	70_37	silent	SNP	0.994	T	T	115343959	C	T	115343959	2	4	131	1	0	0	0	0	0	0	0	1	6958	547	19	2		2	HABP2	10	115343959	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1174541	115343959	20190788	1145	21285										
ATRNL1	26033	genome.wustl.edu	37	chr10	117228760	117228760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagagatagtttttcctatgAaaaatttaactttagaagca	6	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:117228760A>C	ENST00000355044.3	+	24	3701	c.3575A>C	c.(3574-3576)gAa>gCa	p.E1192A	ATRNL1_ENST00000423111.2_Missense_Mutation_p.E243A|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1192					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTCCTATGAAAAATTTAAC	0.294																																																	0													39	43	42					10																	117228760		2191	4267	6458	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3575A>C	10.37:g.117228760A>C	ENSP00000347152:p.Glu1192Ala		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E1192A	ENST00000355044.3	37	c.3575	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258354	0.59321	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.56444	0.46;0.46	5.47	5.47	0.80525	.	0.092232	0.64402	D	0.000001	T	0.63058	0.2479	L	0.39633	1.23	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.73380	0.874;0.98	T	0.59289	-0.7482	10	0.27785	T	0.31	-20.879	15.5548	0.76184	1.0:0.0:0.0:0.0	.	243;1192	B4DH41;Q5VV63	.;ATRN1_HUMAN	A	1192;243	ENSP00000347152:E1192A;ENSP00000409624:E243A	ENSP00000347152:E1192A	E	+	2	0	ATRNL1	117218750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.279000	0.95777	2.077000	0.62373	0.477000	0.44152	GAA	ATRNL1	-	NULL		0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	A	XM_049349		117228760	1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117228760	A	C	117228760	3	2	131	1	0	0	0	0	1	0	0	0	1208	246	9	5	3669	5	ATRNL1	10	117228760	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1884801	117228760	18305987	1146	21286										
PNLIP	5406	genome.wustl.edu	37	chr10	118307944	118307944	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaaactcgctttattattCatggattcatagacaaggga	8	6	2	1	rs368162708		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:118307944C>A	ENST00000369221.2	+	4	302	c.274C>A	c.(274-276)Cat>Aat	p.H92N	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	92					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CTTTATTATTCATGGATTCAT	0.398																																																	0								C	ASN/HIS	0,4406		0,0,2203	119	119	119		274	5.4	1	10		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLIP	NM_000936.2	68	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	92/466	118307944	1,13005	2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.274C>A	10.37:g.118307944C>A	ENSP00000358223:p.His92Asn		Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.H92N	ENST00000369221.2	37	c.274	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503040	0.85176	0.0	1.16E-4	ENSG00000175535	ENST00000369221	D	0.96168	-3.93	5.39	5.39	0.77823	Lipase, N-terminal (1);	0.073472	0.56097	D	0.000028	D	0.98934	0.9638	H	0.99545	4.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99072	1.0834	10	0.87932	D	0	.	18.089	0.89468	0.0:1.0:0.0:0.0	.	92	P16233	LIPP_HUMAN	N	92	ENSP00000358223:H92N	ENSP00000358223:H92N	H	+	1	0	PNLIP	118297934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.805000	0.69143	2.814000	0.96858	0.585000	0.79938	CAT	PNLIP	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	C	NM_000936		118307944	1	no_errors	ENST00000369221	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118307944	C	A	118307944	3	1	131	1	0	0	0	0	1	0	0	0	12173	826	29	3	284	3	PNLIP	10	118307944	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1079184	118307944	17226803	1147	21287										
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118354277	118354277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggaggtgaactgcatctgCgtggactggaagaagggctc	17	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:118354277C>T	ENST00000528052.1	+	5	437	c.366C>T	c.(364-366)tgC>tgT	p.C122C	PNLIPRP1_ENST00000358834.4_Silent_p.C122C|PNLIPRP1_ENST00000534537.1_Silent_p.C122C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	122					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACTGCATCTGCGTGGACTGGA	0.592																																																	0													120	102	108					10																	118354277		2203	4300	6503	SO:0001819	synonymous_variant	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.366C>T	10.37:g.118354277C>T			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.C122	ENST00000528052.1	37	c.366	CCDS7595.1	10																																																																																			PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	C	NM_006229		118354277	1	no_errors	ENST00000358834	ensembl	human	known	70_37	silent	SNP	0.401	T	T	118354277	C	T	118354277	2	4	131	1	0	0	0	0	0	0	0	1	12174	776	27	2		2	PNLIPRP1	10	118354277	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	46333	118354277	17180470	1148	21288										
PRLHR	2834	genome.wustl.edu	37	chr10	120354249	120354249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgaggcgcagcgagatgcGccgcctcagcgggtgcacca	16	14	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:120354249G>A	ENST00000369169.1	-	1	507	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PRLHR_ENST00000239032.2_Missense_Mutation_p.R170C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	170					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCGAGATGCGCCGCCTCAGC	0.677																																																	0													24	26	25					10																	120354249		2199	4296	6495	SO:0001583	missense	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.508C>T	10.37:g.120354249G>A	ENSP00000358167:p.Arg170Cys		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R170C	ENST00000369169.1	37	c.508	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026783	0.75390	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.39787	1.06;1.06	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82768	-0.0294	10	0.87932	D	0	.	13.9391	0.64043	0.0:0.0:0.8384:0.1616	.	170	P49683	PRLHR_HUMAN	C	170	ENSP00000239032:R170C;ENSP00000358167:R170C	ENSP00000239032:R170C	R	-	1	0	PRLHR	120344239	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.012000	0.64017	2.472000	0.83506	0.655000	0.94253	CGC	PRLHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.677	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	G	NM_004248		120354249	-1	no_errors	ENST00000239032	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120354249	G	A	120354249	3	1	131	1	0	0	0	0	1	0	0	0	12557	1087	38	2	608	2	PRLHR	10	120354249	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1999972	120354249	15180498	1149	21289										
EIF3A	8661	genome.wustl.edu	37	chr10	120810137	120810137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccttttccgttcttccaatCgattatgcctttcttctgct	5	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:120810137C>T	ENST00000369144.3	-	16	2496	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R756Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTCTTCCAATCGATTATGCCT	0.423																																																	0													327	280	296					10																	120810137		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2369G>A	10.37:g.120810137C>T	ENSP00000358140:p.Arg790Gln		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R790Q	ENST00000369144.3	37	c.2369	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988637	0.74589	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.29917	1.55;1.55	5.57	5.57	0.84162	.	0.000000	0.39834	N	0.001253	T	0.62792	0.2457	M	0.87180	2.865	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.68265	-0.5454	10	0.66056	D	0.02	-6.622	19.2109	0.93755	0.0:1.0:0.0:0.0	.	790	Q14152	EIF3A_HUMAN	Q	790;756	ENSP00000358140:R790Q;ENSP00000438178:R756Q	ENSP00000358140:R790Q	R	-	2	0	EIF3A	120800127	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.036000	0.76524	2.642000	0.89623	0.555000	0.69702	CGA	EIF3A	-	NULL		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	C	NM_003750		120810137	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120810137	C	T	120810137	3	4	131	1	0	0	0	0	1	0	0	0	5022	884	31	1	1807	1	EIF3A	10	120810137	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	455888	120810137	14724610	1150	21290										
RGS10	6001	genome.wustl.edu	37	chr10	121295974	121295974	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggggtgggggcgattccttAcgttccatgctctggtgtcc	15	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:121295974A>G	ENST00000392865.1	-	1	70		c.e1+1		RGS10_ENST00000369103.2_Intron	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GCGATTCCTTACGTTCCATGC	0.607																																																	0													65	70	69					10																	121295974		2042	4194	6236	SO:0001630	splice_region_variant	6001			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000392865.1:c.7+1T>C	10.37:g.121295974A>G			A8K408|B1AMR8|Q6IAZ6|Q96GN0	Splice_Site	SNP	-	e1+2	ENST00000392865.1	37	c.7+2	CCDS41572.1	10	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260646	0.59431	.	.	ENSG00000148908	ENST00000392865	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4442	0.50114	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS10	121285964	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.912000	0.63335	1.949000	0.56562	0.459000	0.35465	.	RGS10	-	-		0.607	RGS10-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGS10	HGNC	protein_coding		A	NM_002925	Intron	121295974	-1	no_errors	ENST00000392865	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	121295974	A	G	121295974	5	3	131	1	0	0	0	0	0	0	1	0	13323	405	14	5	514	5	RGS10	10	121295974	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	485837	121295974	14238773	1151	21291										
CUZD1	50624	genome.wustl.edu	37	chr10	124593209	124593209	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaattgccacttgcacttcGatcccttttcagacgaatgg	8	11	1	2	rs142209822		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124593209G>A	ENST00000368904.1	-	10	2579	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	CUZD1_ENST00000392790.1_Nonsense_Mutation_p.R544*|CUZD1_ENST00000545804.1_Nonsense_Mutation_p.R544*					CUB and zona pellucida-like domains 1									p.R544*(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTGCACTTCGATCCCTTTTC	0.403																																																	1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	145	137	140		1630	2.1	0.2	10	dbSNP_134	140	0,8598		0,0,4299	no	stop-gained	CUZD1	NM_022034.5		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		544/608	124593209	2,13002	2203	4299	6502	SO:0001587	stop_gained	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1630C>T	10.37:g.124593209G>A	ENSP00000357900:p.Arg544*			Nonsense_Mutation	SNP	pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom	p.R544*	ENST00000368904.1	37	c.1630	CCDS7631.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.770707	0.99260	4.54E-4	0.0	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	.	.	.	5.1	2.08	0.27032	.	0.312773	0.21904	N	0.067413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-2.887	3.744	0.08541	0.1459:0.1616:0.5766:0.1159	.	.	.	.	X	544;263;263;178;263;544;544	.	ENSP00000340905:R178X	R	-	1	2	CUZD1	124583199	0.018000	0.18449	0.154000	0.22540	0.637000	0.38172	1.793000	0.38764	0.202000	0.20498	0.655000	0.94253	CGA	CUZD1	-	NULL		0.403	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	HGNC	protein_coding	OTTHUMT00000050829.2	G	NM_022034		124593209	-1	no_errors	ENST00000368904	ensembl	human	known	70_37	nonsense	SNP	0.008	A	A	124593209	G	A	124593209	4	1	131	1	0	0	0	0	0	1	0	0	4071	1066	37	1	201	1	CUZD1	10	124593209	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3297235	124593209	10941538	1152	21292										
IKZF5	64376	genome.wustl.edu	37	chr10	124758126	124758127	+	Frame_Shift_Ins	INS	-	-	T													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgaagtccaaaggctctggINSttttttttcacccatctttg					rs202154688		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124758126_124758127insT	ENST00000368886.5	-	3	335_336	c.15_16insA	c.(13-18)aaaccafs	p.P6fs	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AAAGGCTCTGGTTTTTTTTCAC	0.371																																																	0																																										SO:0001589	frameshift_variant	64376			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	14283	protein-coding gene	gene with protein product		606238	"zinc finger protein, subfamily 1A, 5", "zinc finger protein, subfamily 1A, 5 (Pegasus)"	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.16dupA	10.37:g.124758134_124758134dupT	ENSP00000357881:p.Pro6fs		B3KVH7|D3DRE7|Q9H2T0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P5fs	ENST00000368886.5	37	c.16_15	CCDS41574.1	10																																																																																			IKZF5	-	NULL		0.371	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	-	NM_022466		124758127	-1	no_errors	ENST00000368886	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.996	T	T	124758127	-	T	124758126	7	5	131	1	0	1	1	0	0	0	0	0	7638	1261	44	0	1255	0	IKZF5	10	124758126	Frame_Shift_Ins	INS	-	TCGA-FU-A3HZ-01A-11D-A20U-09	164917	124758126	10776621	1153	21293										
HMX3	340784	genome.wustl.edu	37	chr10	124897036	124897036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtggaagcggcagctggcggCggagctggaggcggccaacc	20	11	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124897036C>T	ENST00000357878.5	+	2	952	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	288					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTGGCGGCGGAGCTGGAG	0.711																																																	0													15	19	17					10																	124897036		2189	4287	6476	SO:0001583	missense	340784				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.863C>T	10.37:g.124897036C>T	ENSP00000350549:p.Ala288Val		A8MU06	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A288V	ENST00000357878.5	37	c.863	CCDS41575.1	10	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271722	0.80469	.	.	ENSG00000188620	ENST00000357878	D	0.95518	-3.73	4.92	4.92	0.64577	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.80982	2.52	0.80722	D	1	D	0.60575	0.988	P	0.52481	0.7	D	0.96044	0.9026	10	0.38643	T	0.18	.	18.3047	0.90176	0.0:1.0:0.0:0.0	.	288	A6NHT5	HMX3_HUMAN	V	288	ENSP00000350549:A288V	ENSP00000350549:A288V	A	+	2	0	HMX3	124887026	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.596000	0.82721	2.561000	0.86390	0.555000	0.69702	GCG	HMX3	-	superfamily_Homeodomain-like,smart_Homeodomain		0.711	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMX3	HGNC	protein_coding	OTTHUMT00000050842.4	C	XM_291716		124897036	1	no_errors	ENST00000357878	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124897036	C	T	124897036	3	4	131	1	0	0	0	0	1	0	0	0	7268	768	27	2	869	2	HMX3	10	124897036	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	138910	124897036	10637711	1154	21294										
GPR26	2849	genome.wustl.edu	37	chr10	125426344	125426344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgctcaccttcccagccgccGcgctcgccctgtcctggctc	9	22	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:125426344G>A	ENST00000284674.1	+	1	474	c.421G>A	c.(421-423)Gcg>Acg	p.A141T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCCAGCCGCCGCGCTCGCCCT	0.711																																																	0													10	11	11					10																	125426344		2184	4258	6442	SO:0001583	missense	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.421G>A	10.37:g.125426344G>A	ENSP00000284674:p.Ala141Thr		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A141T	ENST00000284674.1	37	c.421	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691440	0.68271	.	.	ENSG00000154478	ENST00000284674	T	0.37058	1.22	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.063063	0.64402	D	0.000007	T	0.52948	0.1766	M	0.83692	2.655	0.80722	D	1	D	0.54964	0.969	P	0.50352	0.638	T	0.65768	-0.6088	10	0.72032	D	0.01	-26.59	16.33	0.83006	0.0:0.0:1.0:0.0	.	141	Q8NDV2	GPR26_HUMAN	T	141	ENSP00000284674:A141T	ENSP00000284674:A141T	A	+	1	0	GPR26	125416334	1.000000	0.71417	0.619000	0.29118	0.003000	0.03518	7.531000	0.81973	2.067000	0.61834	0.655000	0.94253	GCG	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	G			125426344	1	no_errors	ENST00000284674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125426344	G	A	125426344	3	1	131	1	0	0	0	0	1	0	0	0	6703	1087	38	2	423	2	GPR26	10	125426344	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	529308	125426344	10108403	1155	21295										
DOCK1	1793	genome.wustl.edu	37	chr10	128788832	128788832	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatgaactcaaagaactgaaGaagaaggtcacagccaaaat	9	7	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:128788832G>T	ENST00000280333.6	+	6	547	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	146					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AAGAACTGAAGAAGAAGGTCA	0.358																																																	0													105	99	101					10																	128788832		1892	4128	6020	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.438G>T	10.37:g.128788832G>T	ENSP00000280333:p.Lys146Asn		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.K146N	ENST00000280333.6	37	c.438		10	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482938	0.63962	.	.	ENSG00000150760	ENST00000280333	T	0.59083	0.29	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.90082	3.085	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.954	T	0.78396	-0.2220	10	0.87932	D	0	.	5.5834	0.17262	0.2425:0.0:0.7575:0.0	.	146;146	B2RUU3;Q14185	.;DOCK1_HUMAN	N	146	ENSP00000280333:K146N	ENSP00000280333:K146N	K	+	3	2	DOCK1	128678822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.795000	0.47861	2.510000	0.84645	0.555000	0.69702	AAG	DOCK1	-	NULL		0.358	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380		128788832	1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128788832	G	T	128788832	3	4	131	1	0	0	0	0	1	0	0	0	4694	933	33	3	460	3	DOCK1	10	128788832	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3362488	128788832	6745915	1156	21296										
MKI67	4288	genome.wustl.edu	37	chr10	129904435	129904435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttagtttcctgaatgctaaaAattcttcctctacgtctgct	5	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:129904435A>C	ENST00000368654.3	-	13	6044	c.5669T>G	c.(5668-5670)tTt>tGt	p.F1890C	MKI67_ENST00000368653.3_Missense_Mutation_p.F1530C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1890	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAATGCTAAAAATTCTTCCTC	0.478																																																	0													285	282	283					10																	129904435		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5669T>G	10.37:g.129904435A>C	ENSP00000357643:p.Phe1890Cys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.F1890C	ENST00000368654.3	37	c.5669	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174518	0.38413	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	2.96	-1.28	0.09318	.	2.606040	0.02070	U	0.051481	T	0.06645	0.0170	L	0.47716	1.5	0.09310	N	1	D;D;D	0.67145	0.996;0.994;0.996	P;P;P	0.60117	0.79;0.793;0.869	T	0.30208	-0.9986	10	0.41790	T	0.15	.	6.4492	0.21894	0.6348:0.0:0.3652:0.0	.	1889;1530;1890	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	C	1890;1530;1889	ENSP00000357643:F1890C;ENSP00000357642:F1530C	ENSP00000357642:F1530C	F	-	2	0	MKI67	129794425	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.083000	0.11286	-0.402000	0.07633	0.459000	0.35465	TTT	MKI67	-	pfam_K167R		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	A	NM_002417		129904435	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	C	C	129904435	A	C	129904435	3	2	131	1	0	0	0	0	1	0	0	0	9621	14	1	5	4113	5	MKI67	10	129904435	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1115603	129904435	5630312	1157	21297										
EBF3	253738	genome.wustl.edu	37	chr10	131646736	131646736	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccgtaatctatggttggttCattaagggctgcaacaggac	12	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:131646736C>A	ENST00000355311.5	-	11	1120	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	EBF3_ENST00000368648.3_Nonsense_Mutation_p.E341*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	350					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATGGTTGGTTCATTAAGGGCT	0.408																																																	0													145	134	138					10																	131646736		2203	4300	6503	SO:0001587	stop_gained	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1048G>T	10.37:g.131646736C>A	ENSP00000347463:p.Glu350*		A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E350*	ENST00000355311.5	37	c.1048		10	.	.	.	.	.	.	.	.	.	.	C	37	6.569364	0.97671	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.0898	20.3473	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	350;341	.	ENSP00000347463:E350X	E	-	1	0	EBF3	131536726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.884000	0.98904	0.655000	0.94253	GAA	EBF3	-	NULL		0.408	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	C	NM_001005463		131646736	-1	no_errors	ENST00000355311	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	131646736	C	A	131646736	4	1	131	1	0	0	0	0	0	1	0	0	4892	835	29	3	658	3	EBF3	10	131646736	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1742301	131646736	3888011	1158	21298										
GPR123	84435	genome.wustl.edu	37	chr10	134916234	134916234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcactattctacactgtccAccatgctgtggataggagtg	10	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:134916234A>G	ENST00000392607.3	+	5	725	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	GPR123_ENST00000392606.2_5'UTR|GPR123_ENST00000607359.1_Missense_Mutation_p.T817A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	97					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TACACTGTCCACCATGCTGTG	0.642																																																	0													65	47	53					10																	134916234		2203	4300	6503	SO:0001583	missense	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.289A>G	10.37:g.134916234A>G	ENSP00000376384:p.Thr97Ala		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.T97A	ENST00000392607.3	37	c.289	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587594	0.66105	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.37058	1.22	4.12	4.12	0.48240	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000041	T	0.41373	0.1156	L	0.45137	1.4	0.80722	D	1	P;P	0.42248	0.774;0.542	P;P	0.51742	0.678;0.621	T	0.14924	-1.0455	10	0.32370	T	0.25	-45.4496	11.4167	0.49956	1.0:0.0:0.0:0.0	.	97;817	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	A	817;817;97	ENSP00000376384:T97A	ENSP00000357566:T817A	T	+	1	0	GPR123	134766224	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	3.516000	0.53436	1.666000	0.50821	0.379000	0.24179	ACC	GPR123	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.642	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	A			134916234	1	no_errors	ENST00000392607	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	134916234	A	G	134916234	3	3	131	1	0	0	0	0	1	0	0	0	6656	159	6	5	303	5	GPR123	10	134916234	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3269498	134916234	618513	1159	21299										
C11orf35	256329	genome.wustl.edu	37	chr11	556271	556271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaagccgcgcaccagctgcTtcagcaccatgccgctcagg	12	16	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:556271T>G	ENST00000329451.3	-	10	1240	c.1178A>C	c.(1177-1179)aAg>aCg	p.K393T	RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		393	LTD.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAGCTGCTTCAGCACCAT	0.711																																																	0													7	9	8					11																	556271		1732	3223	4955	SO:0001583	missense	256329																														ENST00000329451.3:c.1178A>C	11.37:g.556271T>G	ENSP00000331167:p.Lys393Thr			Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.K393T	ENST00000329451.3	37	c.1178	CCDS7701.1	11	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962768	0.34659	.	.	ENSG00000185522	ENST00000329451	D	0.98550	-4.99	3.9	-0.0233	0.13944	Intermediate filament, C-terminal (1);	0.676653	0.12171	N	0.493006	D	0.93546	0.7940	L	0.34521	1.04	0.22330	N	0.9992	P	0.38280	0.625	B	0.31390	0.129	D	0.88767	0.3261	10	0.72032	D	0.01	-18.1308	3.0311	0.06107	0.1911:0.3307:0.0:0.4783	.	393	Q8IXW0	CK035_HUMAN	T	393	ENSP00000331167:K393T	ENSP00000331167:K393T	K	-	2	0	C11orf35	546271	0.006000	0.16342	0.972000	0.41901	0.429000	0.31625	-0.520000	0.06252	-0.100000	0.12241	0.397000	0.26171	AAG	C11orf35	-	pfam_Lamin_tail_dom		0.711	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	T			556271	-1	no_errors	ENST00000329451	ensembl	human	known	70_37	missense	SNP	0.976	G	G	556271	T	G	556271	3	3	131	1	0	0	0	0	1	0	0	0	1642	1609	56	5	746	5	C11orf35	11	556271	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09		556271	134450245	1160	21300										
CHID1	66005	genome.wustl.edu	37	chr11	899391	899391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctccaccacgaagccatcgAaatgctggttctgaaagaag	9	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:899391A>G	ENST00000449825.1	-	7	913	c.557T>C	c.(556-558)tTc>tCc	p.F186S	CHID1_ENST00000454838.2_Missense_Mutation_p.F211S|CHID1_ENST00000528581.1_Missense_Mutation_p.F211S|CHID1_ENST00000336845.5_Missense_Mutation_p.F211S|CHID1_ENST00000323541.7_Missense_Mutation_p.F216S|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Missense_Mutation_p.F186S|CHID1_ENST00000429789.2_Missense_Mutation_p.F186S|CHID1_ENST00000323578.8_Missense_Mutation_p.F186S	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	186					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GAAGCCATCGAAATGCTGGTT	0.622																																					Pancreas(117;992 2327 5172 41921)												0													67	49	55					11																	899391		2200	4296	6496	SO:0001583	missense	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.557T>C	11.37:g.899391A>G	ENSP00000391255:p.Phe186Ser		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.F216S	ENST00000449825.1	37	c.647	CCDS7722.1	11	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350163	0.82132	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	T;T;T;T;T;T;T;T	0.42513	2.73;2.73;2.73;2.73;0.97;2.73;2.73;2.73	4.46	4.46	0.54185	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052152	0.85682	D	0.000000	T	0.67571	0.2907	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;1.0	T	0.74275	-0.3718	10	0.87932	D	0	-14.4612	12.7273	0.57178	1.0:0.0:0.0:0.0	.	247;216;186;211;186	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	S	216;186;211;186;186;211;211;186	ENSP00000324821:F216S;ENSP00000391255:F186S;ENSP00000398722:F211S;ENSP00000325055:F186S;ENSP00000416034:F186S;ENSP00000435503:F211S;ENSP00000338838:F211S;ENSP00000388156:F186S	ENSP00000324821:F216S	F	-	2	0	CHID1	889391	0.994000	0.37717	0.995000	0.50966	0.937000	0.57800	4.017000	0.57167	1.665000	0.50811	0.379000	0.24179	TTC	CHID1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CHID1	HGNC	protein_coding	OTTHUMT00000257112.1	A	NM_023947		899391	-1	no_errors	ENST00000323541	ensembl	human	known	70_37	missense	SNP	1.000	G	G	899391	A	G	899391	3	3	131	1	0	0	0	0	1	0	0	0	3350	246	9	5	652	5	CHID1	11	899391	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	343120	899391	134107125	1161	21301										
MUC5B	727897	genome.wustl.edu	37	chr11	1253309	1253309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggccacgggcgcagccttcGccaacacctggaaggcccag	13	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:1253309G>A	ENST00000529681.1	+	15	1820	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A591T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	588	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCAGCCTTCGCCAACACCTG	0.657																																																	0													47	57	54					11																	1253309		2100	4201	6301	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1762G>A	11.37:g.1253309G>A	ENSP00000436812:p.Ala588Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A591T	ENST00000529681.1	37	c.1771	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143550	0.37825	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20598	2.06;2.25	3.77	1.72	0.24424	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.43411	0.1246	M	0.83692	2.655	0.30536	N	0.76692	D;D;D	0.89917	0.987;1.0;1.0	P;P;P	0.60117	0.492;0.869;0.869	T	0.50197	-0.8856	9	0.87932	D	0	.	11.4639	0.50227	0.0:0.0:0.67:0.33	.	588;1247;591	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	T	588;591;589;624	ENSP00000436812:A588T;ENSP00000415793:A591T	ENSP00000343037:A589T	A	+	1	0	MUC5B	1209885	0.998000	0.40836	0.997000	0.53966	0.801000	0.45260	4.499000	0.60380	0.051000	0.15978	0.462000	0.41574	GCC	MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1253309	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1253309	G	A	1253309	3	1	131	1	0	0	0	0	1	0	0	0	10002	1087	38	2	1829	2	MUC5B	11	1253309	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	353918	1253309	133753207	1162	21302										
MUC5B	727897	genome.wustl.edu	37	chr11	1273616	1273616	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaccgagccggctgccatttCtacgcagtgtgcaatcagca	11	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:1273616C>A	ENST00000529681.1	+	32	14965	c.14907C>A	c.(14905-14907)ttC>ttA	p.F4969L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.F4972L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4969					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTGCCATTTCTACGCAGTGT	0.587																																																	0													82	99	94					11																	1273616		2091	4208	6299	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14907C>A	11.37:g.1273616C>A	ENSP00000436812:p.Phe4969Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.F4972L	ENST00000529681.1	37	c.14916	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	3.910	-0.020317	0.07634	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20598	2.06;2.23	4.39	3.48	0.39840	.	.	.	.	.	T	0.27765	0.0683	L	0.58810	1.83	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.49332	0.607;0.607	T	0.11494	-1.0585	9	0.87932	D	0	.	6.8716	0.24123	0.0:0.7114:0.0:0.2886	.	5291;4972	A7Y9J9;E9PBJ0	.;.	L	4969;4972;4913;4668	ENSP00000436812:F4969L;ENSP00000415793:F4972L	ENSP00000343037:F4913L	F	+	3	2	MUC5B	1230192	0.924000	0.31332	0.367000	0.25926	0.010000	0.07245	0.586000	0.23894	1.167000	0.42706	0.561000	0.74099	TTC	MUC5B	-	NULL		0.587	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1273616	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.304	A	A	1273616	C	A	1273616	3	1	131	1	0	0	0	0	1	0	0	0	10002	912	32	3	15042	3	MUC5B	11	1273616	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	20307	1273616	133732900	1163	21303										
BRSK2	9024	genome.wustl.edu	37	chr11	1459617	1459617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgtttatgaaaacaaaaaaTatttgtaggtattgctgggt	9	3	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:1459617T>G	ENST00000528841.1	+	3	652	c.268T>G	c.(268-270)Tat>Gat	p.Y90D	BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D|BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308219.9_Missense_Mutation_p.Y90D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AAACAAAAAATATTTGTAGGT	0.582																																																	0													84	94	91					11																	1459617		2130	4255	6385	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.268T>G	11.37:g.1459617T>G	ENSP00000432000:p.Tyr90Asp		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.Y136D	ENST00000528841.1	37	c.406	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552769	0.65425	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	2.57	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.66247	0.2770	L	0.38531	1.155	0.80722	D	1	P;D;P;P;P	0.89917	0.745;1.0;0.534;0.728;0.682	P;D;B;P;P	0.85130	0.662;0.997;0.415;0.598;0.462	T	0.62765	-0.6785	10	0.34782	T	0.22	.	9.7527	0.40485	0.0:0.0:0.0:1.0	.	90;136;90;90;90	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	D	90;90;90;90;90;30;30;30;136	ENSP00000310697:Y90D;ENSP00000431152:Y90D;ENSP00000310805:Y90D;ENSP00000432000:Y90D;ENSP00000433370:Y90D;ENSP00000434075:Y30D;ENSP00000432672:Y30D;ENSP00000433235:Y30D;ENSP00000371614:Y136D	ENSP00000310697:Y90D	Y	+	1	0	BRSK2	1416193	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.575000	0.46025	1.193000	0.43086	0.260000	0.18958	TAT	BRSK2	-	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		0.582	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	T	NM_003957		1459617	1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1459617	T	G	1459617	3	3	131	1	0	0	0	0	1	0	0	0	1527	1406	49	5	278	5	BRSK2	11	1459617	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	186001	1459617	133546899	1164	21304										
OSBPL5	114879	genome.wustl.edu	37	chr11	3125479	3125479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcttgttcaggaaggagcgCggctccagtacgaacgtggg	16	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:3125479C>T	ENST00000263650.7	-	10	1347	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	OSBPL5_ENST00000348039.5_Silent_p.P328P|OSBPL5_ENST00000389989.3_Silent_p.P328P|OSBPL5_ENST00000542243.1_Silent_p.P27P|OSBPL5_ENST00000525498.1_Silent_p.P307P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	396					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGAAGGAGCGCGGCTCCAGTA	0.622																																																	0													112	88	96					11																	3125479		2202	4298	6500	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1188G>A	11.37:g.3125479C>T			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	NULL	p.R112H	ENST00000263650.7	37	c.335	CCDS31344.1	11																																																																																			OSBPL5	-	NULL		0.622	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3125479	-1	no_errors	ENST00000471998	ensembl	human	known	70_37	missense	SNP	0.005	T	T	3125479	C	T	3125479	2	4	131	1	0	0	0	0	0	0	0	1	11304	755	27	2		2	OSBPL5	11	3125479	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1665862	3125479	131881037	1165	21305										
ART5	116969	genome.wustl.edu	37	chr11	3661163	3661163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcctcttgggttcaaagcGaaggctgcccacacctcgga	11	14	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:3661163G>A	ENST00000397068.3	-	2	888	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	ART5_ENST00000397067.3_Missense_Mutation_p.R166C|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000359918.4_Missense_Mutation_p.R166C	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	166					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCAAAGCGAAGGCTGCCC	0.627																																																	0													53	53	53					11																	3661163		2201	4298	6499	SO:0001583	missense	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.496C>T	11.37:g.3661163G>A	ENSP00000380258:p.Arg166Cys		C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	pfam_ART,prints_ART	p.R166C	ENST00000397068.3	37	c.496	CCDS7743.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.19|15.19	2.761152|2.761152	0.49468|0.49468	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918|ENST00000453353	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	1.062470|.	0.07060|.	N|.	0.833539|.	T|T	0.81211|0.81211	0.4775|0.4775	M|M	0.88775|0.88775	2.98|2.98	0.37842|0.37842	D|D	0.929101|0.929101	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.65140|.	0.931;0.932|.	D|D	0.85146|0.85146	0.0983|0.0983	10|5	0.49607|.	T|.	0.09|.	-4.0632|-4.0632	16.0793|16.0793	0.80989|0.80989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166;166|.	Q96L15-2;Q96L15|.	.;NAR5_HUMAN|.	C|L	166|122	ENSP00000380258:R166C;ENSP00000380257:R166C;ENSP00000352992:R166C|.	ENSP00000352992:R166C|.	R|S	-|-	1|2	0|0	ART5|ART5	3617739|3617739	0.174000|0.174000	0.23070|0.23070	0.887000|0.887000	0.34795|0.34795	0.221000|0.221000	0.24807|0.24807	3.183000|3.183000	0.50918|0.50918	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CGC|TCG	ART5	-	pfam_ART		0.627	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	G	NM_053017		3661163	-1	no_errors	ENST00000359918	ensembl	human	known	70_37	missense	SNP	0.887	A	A	3661163	G	A	3661163	3	1	131	1	0	0	0	0	1	0	0	0	1001	1058	37	1	391	1	ART5	11	3661163	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	535684	3661163	131345353	1166	21306										
OR52I1	390037	genome.wustl.edu	37	chr11	4615380	4615380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggctatctcactgagtgccAtgtacatcacagccctgtta	8	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:4615380A>C	ENST00000530443.2	+	1	112	c.112A>C	c.(112-114)Atg>Ctg	p.M38L	OR52I1_ENST00000450052.2_Missense_Mutation_p.M62L	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGTGCCATGTACATCAC	0.507																																																	0													155	100	118					11																	4615380		2201	4284	6485	SO:0001583	missense	390037			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.112A>C	11.37:g.4615380A>C	ENSP00000436453:p.Met38Leu		Q6IF91	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M38L	ENST00000530443.2	37	c.112	CCDS59223.1	11	.	.	.	.	.	.	.	.	.	.	A	12.07	1.828291	0.32329	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.03065	4.06;4.06	4.93	4.93	0.64822	.	0.234727	0.29900	N	0.010910	T	0.04272	0.0118	L	0.35793	1.09	0.22435	N	0.999106	B	0.32245	0.361	B	0.30495	0.116	T	0.26780	-1.0093	9	0.46703	T	0.11	-6.9278	12.8836	0.58030	1.0:0.0:0.0:0.0	.	38	Q8NGK6	O52I1_HUMAN	L	62;38	ENSP00000409094:M62L;ENSP00000436453:M38L	ENSP00000409094:M62L	M	+	1	0	OR52I1	4571956	0.641000	0.27251	0.896000	0.35187	0.739000	0.42172	0.117000	0.15583	2.212000	0.71576	0.454000	0.30748	ATG	OR52I1	-	prints_GPCR_Rhodpsn		0.507	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I1	HGNC	protein_coding	OTTHUMT00000385947.2	A	NM_001005169		4615380	1	no_errors	ENST00000530443	ensembl	human	putative	70_37	missense	SNP	0.976	C	C	4615380	A	C	4615380	3	2	131	1	0	0	0	0	1	0	0	0	11144	217	8	5	114	5	OR52I1	11	4615380	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	954217	4615380	130391136	1167	21307										
OR51S1	119692	genome.wustl.edu	37	chr11	4869575	4869575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttatcaatggaggaagaagGaaatggacataggatagaag	13	2	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:4869575G>T	ENST00000322101.2	-	1	939	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGAAGAAGGAAATGGACAT	0.448																																																	0													143	131	135					11																	4869575		2201	4298	6499	SO:0001583	missense	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.864C>A	11.37:g.4869575G>T	ENSP00000322754:p.Phe288Leu		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F288L	ENST00000322101.2	37	c.864	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078402	0.07184	.	.	ENSG00000176922	ENST00000322101	T	0.35789	1.29	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.15782	0.0380	N	0.04508	-0.205	0.33853	D	0.632902	B	0.25007	0.116	B	0.22601	0.04	T	0.10660	-1.0620	10	0.02654	T	1	-27.026	14.052	0.64742	0.0:0.1521:0.8479:0.0	.	288	Q8NGJ8	O51S1_HUMAN	L	288	ENSP00000322754:F288L	ENSP00000322754:F288L	F	-	3	2	OR51S1	4826151	0.011000	0.17503	1.000000	0.80357	0.329000	0.28539	0.002000	0.13061	2.729000	0.93468	0.655000	0.94253	TTC	OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	G	NM_001004758		4869575	-1	no_errors	ENST00000322101	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4869575	G	T	4869575	3	4	131	1	0	0	0	0	1	0	0	0	11129	1165	41	3	110	3	OR51S1	11	4869575	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	254195	4869575	130136941	1168	21308										
OR51S1	119692	genome.wustl.edu	37	chr11	4869592	4869592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaggaaatggacataggataGaagagtatgggtatgctgag	15	2	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:4869592G>T	ENST00000322101.2	-	1	922	c.847C>A	c.(847-849)Cta>Ata	p.L283I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATAGGATAGAAGAGTATGG	0.448																																																	0													138	125	129					11																	4869592		2201	4298	6499	SO:0001583	missense	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.847C>A	11.37:g.4869592G>T	ENSP00000322754:p.Leu283Ile		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L283I	ENST00000322101.2	37	c.847	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054064	0.19907	.	.	ENSG00000176922	ENST00000322101	T	0.36520	1.25	5.25	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.172404	0.28011	N	0.016952	T	0.30696	0.0773	L	0.39326	1.205	0.26386	N	0.976656	D	0.53312	0.959	P	0.47251	0.542	T	0.14392	-1.0474	10	0.33940	T	0.23	-18.5437	6.6874	0.23152	0.0849:0.0:0.6409:0.2742	.	283	Q8NGJ8	O51S1_HUMAN	I	283	ENSP00000322754:L283I	ENSP00000322754:L283I	L	-	1	2	OR51S1	4826168	0.005000	0.15991	1.000000	0.80357	0.060000	0.15804	0.052000	0.14163	2.729000	0.93468	0.655000	0.94253	CTA	OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	G	NM_001004758		4869592	-1	no_errors	ENST00000322101	ensembl	human	known	70_37	missense	SNP	0.890	T	T	4869592	G	T	4869592	3	4	131	1	0	0	0	0	1	0	0	0	11129	933	33	3	127	3	OR51S1	11	4869592	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	17	4869592	130136924	1169	21309										
OR52A5	390054	genome.wustl.edu	37	chr11	5153659	5153659	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaggtgttaagtgcaatgtCtgtggctgccaacatggcca	13	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5153659C>A	ENST00000307388.1	-	1	213	c.214G>T	c.(214-216)Gac>Tac	p.D72Y		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	72					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D72Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGTGCAATGTCTGTGGCTGCC	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											72	71	71					11																	5153659		2201	4298	6499	SO:0001583	missense	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.214G>T	11.37:g.5153659C>A	ENSP00000303469:p.Asp72Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D72Y	ENST00000307388.1	37	c.214	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301687	0.40694	.	.	ENSG00000171944	ENST00000307388	T	0.68025	-0.3	5.22	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000242	D	0.89343	0.6688	H	0.99435	4.565	0.46749	D	0.999188	D	0.89917	1.0	D	0.75484	0.986	D	0.93481	0.6827	10	0.87932	D	0	.	14.0676	0.64839	0.1518:0.8482:0.0:0.0	.	72	Q9H2C5	O52A5_HUMAN	Y	72	ENSP00000303469:D72Y	ENSP00000303469:D72Y	D	-	1	0	OR52A5	5110235	0.997000	0.39634	0.998000	0.56505	0.135000	0.20990	3.597000	0.54031	1.408000	0.46895	0.655000	0.94253	GAC	OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.373	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	C	NM_001005160		5153659	-1	no_errors	ENST00000307388	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5153659	C	A	5153659	3	1	131	1	0	0	0	0	1	0	0	0	11134	913	32	3	739	3	OR52A5	11	5153659	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	284067	5153659	129852857	1170	21310										
OR51I1	390063	genome.wustl.edu	37	chr11	5462433	5462433	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaggagaaagtgtggatgaaGaacatctggaccaggcaagc	14	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5462433G>T	ENST00000380211.1	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGATGAAGAACATCTGGA	0.453																																																	0													142	122	129					11																	5462433		2201	4297	6498	SO:0001583	missense	390063			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.312C>A	11.37:g.5462433G>T	ENSP00000369559:p.Phe104Leu		B9EKW2|Q6IF33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104L	ENST00000380211.1	37	c.312	CCDS31382.1	11	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867104	0.72065	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.05382	3.45	5.64	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.25457	0.0619	M	0.88704	2.975	0.33243	D	0.557427	D	0.58268	0.982	D	0.67548	0.952	T	0.41106	-0.9527	10	0.72032	D	0.01	.	8.6062	0.33775	0.237:0.0:0.763:0.0	.	104	Q9H343	O51I1_HUMAN	L	89;101;104	ENSP00000369559:F104L	ENSP00000348350:F89L	F	-	3	2	OR51I1	5419009	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	-0.416000	0.07097	0.748000	0.32831	0.551000	0.68910	TTC	OR51I1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	G	NM_001005288		5462433	-1	no_errors	ENST00000380211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5462433	G	T	5462433	3	4	131	1	0	0	0	0	1	0	0	0	11124	933	33	3	636	3	OR51I1	11	5462433	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	308774	5462433	129544083	1171	21311										
OR52N4	390072	genome.wustl.edu	37	chr11	5775987	5775987	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatcatgctaacactgaataAaacagacctaataccagctt	4	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5775987A>C	ENST00000317254.3	+	1	65	c.17A>C	c.(16-18)aAa>aCa	p.K6T	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACACTGAATAAAACAGACCTA	0.368																																																	0													94	90	91					11																	5775987		1856	4101	5957	SO:0001583	missense	390072			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.17A>C	11.37:g.5775987A>C	ENSP00000323224:p.Lys6Thr		B2RNP8|Q6IF77	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K6T	ENST00000317254.3	37	c.17	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451777	0.26074	.	.	ENSG00000181074	ENST00000317254	T	0.36520	1.25	5.41	4.27	0.50696	.	0.883634	0.09619	N	0.777857	T	0.13543	0.0328	N	0.03930	-0.32	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.36407	-0.9749	10	0.10377	T	0.69	.	2.7489	0.05274	0.6328:0.0:0.1685:0.1987	.	6	Q8NGI2	O52N4_HUMAN	T	6	ENSP00000323224:K6T	ENSP00000323224:K6T	K	+	2	0	OR52N4	5732563	0.000000	0.05858	0.885000	0.34714	0.354000	0.29330	-0.033000	0.12246	2.282000	0.76494	0.451000	0.29950	AAA	OR52N4	-	NULL		0.368	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	HGNC	protein_coding	OTTHUMT00000143350.1	A	NM_001005175		5775987	1	no_errors	ENST00000317254	ensembl	human	known	70_37	missense	SNP	0.481	C	C	5775987	A	C	5775987	3	2	131	1	0	0	0	0	1	0	0	0	11153	14	1	5	19	5	OR52N4	11	5775987	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	313554	5775987	129230529	1172	21312										
OR52E4	390081	genome.wustl.edu	37	chr11	5905772	5905772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catccactatccccaaaatgCtaggaatcttctggttcaac	5	13	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5905772C>A	ENST00000316987.2	+	1	272	c.250C>A	c.(250-252)Cta>Ata	p.L84I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAAAATGCTAGGAATCTT	0.443																																																	0													131	115	120					11																	5905772		2201	4296	6497	SO:0001583	missense	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.250C>A	11.37:g.5905772C>A	ENSP00000321426:p.Leu84Ile		Q6IFG0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L84I	ENST00000316987.2	37	c.250	CCDS31401.1	11	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505844	0.64410	.	.	ENSG00000180974	ENST00000316987	T	0.00438	7.42	5.04	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001527	T	0.00967	0.0032	M	0.79805	2.47	0.32932	D	0.517218	D	0.53151	0.958	P	0.62184	0.899	T	0.38757	-0.9646	10	0.72032	D	0.01	.	9.8432	0.41010	0.0:0.8682:0.0:0.1318	.	84	Q8NGH9	O52E4_HUMAN	I	84	ENSP00000321426:L84I	ENSP00000321426:L84I	L	+	1	2	OR52E4	5862348	0.989000	0.36119	1.000000	0.80357	0.856000	0.48823	0.297000	0.19101	0.999000	0.39023	0.643000	0.83706	CTA	OR52E4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E4	HGNC	protein_coding	OTTHUMT00000401146.1	C	NM_001005165		5905772	1	no_errors	ENST00000316987	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5905772	C	A	5905772	3	1	131	1	0	0	0	0	1	0	0	0	11140	796	28	4	252	4	OR52E4	11	5905772	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	129785	5905772	129100744	1173	21313										
OR52L1	338751	genome.wustl.edu	37	chr11	6007367	6007367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggacatagaagaccaggatgAcacaaatatgagagccacat	10	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6007367A>G	ENST00000332249.4	-	1	848	c.794T>C	c.(793-795)gTc>gCc	p.V265A		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCAGGATGACACAAATATG	0.498																																					Melanoma(121;653 1666 10547 22796 51255)												0													144	143	144					11																	6007367		2082	4230	6312	SO:0001583	missense	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.794T>C	11.37:g.6007367A>G	ENSP00000330338:p.Val265Ala		B2RPA6|Q6IFK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V265A	ENST00000332249.4	37	c.794	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	A	9.103	1.004729	0.19199	.	.	ENSG00000183313	ENST00000332249	T	0.00237	8.47	3.95	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001339	T	0.00328	0.0010	L	0.33792	1.035	0.31019	N	0.718358	D	0.69078	0.997	D	0.79108	0.992	T	0.70204	-0.4936	10	0.31617	T	0.26	.	11.9438	0.52915	1.0:0.0:0.0:0.0	.	265	Q8NGH7	O52L1_HUMAN	A	265	ENSP00000330338:V265A	ENSP00000330338:V265A	V	-	2	0	OR52L1	5963943	0.004000	0.15560	0.990000	0.47175	0.032000	0.12392	1.566000	0.36396	1.558000	0.49541	0.260000	0.18958	GTC	OR52L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	A	NM_001005173		6007367	-1	no_errors	ENST00000332249	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6007367	A	G	6007367	3	3	131	1	0	0	0	0	1	0	0	0	11149	275	10	5	199	5	OR52L1	11	6007367	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	101595	6007367	128999149	1174	21314										
APBB1	322	genome.wustl.edu	37	chr11	6422892	6422892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acttgagcatctgggtcagcTtatcacgagctacgtaggca	11	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6422892T>G	ENST00000609360.1	-	10	1514	c.1415A>C	c.(1414-1416)aAg>aCg	p.K472T	APBB1_ENST00000311051.3_Missense_Mutation_p.K470T|APBB1_ENST00000389906.2_Missense_Mutation_p.K472T|APBB1_ENST00000608655.1_Missense_Mutation_p.K252T|APBB1_ENST00000608704.1_Missense_Mutation_p.K213T|APBB1_ENST00000609331.1_Missense_Mutation_p.K237T|APBB1_ENST00000299402.6_Missense_Mutation_p.K470T|APBB1_ENST00000608645.1_Missense_Mutation_p.K213T|APBB1_ENST00000530885.1_Missense_Mutation_p.K250T|APBB1_ENST00000608394.1_Missense_Mutation_p.K213T|APBB1_ENST00000529519.1_5'UTR	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	472	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGGGTCAGCTTATCACGAGC	0.602																																					GBM(147;1810 2556 5672 39622)												0													178	123	142					11																	6422892		2201	4296	6497	SO:0001583	missense	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1415A>C	11.37:g.6422892T>G	ENSP00000477213:p.Lys472Thr		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.K472T	ENST00000609360.1	37	c.1415		11	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878969	0.51801	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.15	4.15	0.48705	.	0.067539	0.56097	D	0.000022	T	0.33000	0.0848	M	0.68593	2.085	0.53005	D	0.999967	D;B;B	0.76494	0.999;0.035;0.09	D;B;B	0.83275	0.996;0.047;0.121	T	0.04347	-1.0958	10	0.59425	D	0.04	-10.8672	11.1511	0.48460	0.0:0.0:0.0:1.0	.	75;250;470	B7Z4M4;B7Z2Y0;O00213-2	.;.;.	T	470;470;472;321;213;237;250;211	ENSP00000299402:K470T;ENSP00000311912:K470T;ENSP00000374556:K472T;ENSP00000433338:K250T;ENSP00000437114:K211T	ENSP00000299402:K470T	K	-	2	0	APBB1	6379468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.637000	0.46553	1.735000	0.51646	0.482000	0.46254	AAG	APBB1	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.602	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	T	NM_001164		6422892	-1	no_errors	ENST00000389906	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6422892	T	G	6422892	3	3	131	1	0	0	0	0	1	0	0	0	759	1609	56	5	741	5	APBB1	11	6422892	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	415525	6422892	128583624	1175	21315										
DCHS1	8642	genome.wustl.edu	37	chr11	6645079	6645079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtgtgtcctcaggtactgTcacacggtaggatgctcggg	15	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6645079T>C	ENST00000299441.3	-	21	8239	c.7828A>G	c.(7828-7830)Aca>Gca	p.T2610A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2610	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGTACTGTCACACGGTAG	0.577																																																	0													206	183	191					11																	6645079		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7828A>G	11.37:g.6645079T>C	ENSP00000299441:p.Thr2610Ala		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T2610A	ENST00000299441.3	37	c.7828	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125114	0.06795	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.13	4.18	0.49190	Cadherin (3);Cadherin-like (1);	0.314147	0.22910	N	0.054145	T	0.28200	0.0696	L	0.35249	1.045	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	10	0.07030	T	0.85	.	4.3722	0.11253	0.0:0.5864:0.1868:0.2267	.	2610	Q96JQ0	PCD16_HUMAN	A	2610	ENSP00000299441:T2610A	ENSP00000299441:T2610A	T	-	1	0	DCHS1	6601655	0.003000	0.15002	0.890000	0.34922	0.964000	0.63967	0.835000	0.27531	0.657000	0.30906	-0.128000	0.14901	ACA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	T	NM_003737		6645079	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	0.907	C	C	6645079	T	C	6645079	3	2	131	1	0	0	0	0	1	0	0	0	4292	1667	58	5	2072	5	DCHS1	11	6645079	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	222187	6645079	128361437	1176	21316										
DCHS1	8642	genome.wustl.edu	37	chr11	6651105	6651105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcagtacgtgctcagctcgTtgttcgcggtccaacggccg	13	13	2	0	rs201414753	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6651105T>C	ENST00000299441.3	-	11	5244	c.4833A>G	c.(4831-4833)caA>caG	p.Q1611Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1611	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAGCTCGTTGTTCGCGGT	0.662																																																	0													48	48	48					11																	6651105		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4833A>G	11.37:g.6651105T>C			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1611	ENST00000299441.3	37	c.4833	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	T	NM_003737		6651105	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.988	C	C	6651105	T	C	6651105	2	2	131	1	0	0	0	0	0	0	0	1	4292	1722	60	5		5	DCHS1	11	6651105	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6026	6651105	128355411	1177	21317										
OR10A6	390093	genome.wustl.edu	37	chr11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcacagatgtgaggtgagCggcacaggtggaaaaggcct	17	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:7949483C>T	ENST00000309838.2	-	1	726	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453																																																	0													128	115	119					11																	7949483		2201	4296	6497	SO:0001583	missense	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.727G>A	11.37:g.7949483C>T	ENSP00000312470:p.Ala243Thr		Q6IF59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A243T	ENST00000309838.2	37	c.727	CCDS31420.1	11	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091944	0.36952	.	.	ENSG00000175393	ENST00000309838	T	0.37235	1.21	4.42	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.161551	0.28927	N	0.013686	T	0.32556	0.0833	L	0.53671	1.685	0.23320	N	0.997916	B	0.16603	0.018	B	0.15484	0.013	T	0.32107	-0.9919	10	0.72032	D	0.01	.	9.7112	0.40247	0.8247:0.1753:0.0:0.0	.	243	Q8NH74	O10A6_HUMAN	T	243	ENSP00000312470:A243T	ENSP00000312470:A243T	A	-	1	0	OR10A6	7906059	0.937000	0.31787	1.000000	0.80357	0.974000	0.67602	2.024000	0.41049	0.833000	0.34828	-0.272000	0.10252	GCT	OR10A6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	C	NM_001004461		7949483	-1	no_errors	ENST00000309838	ensembl	human	known	70_37	missense	SNP	0.994	T	T	7949483	C	T	7949483	3	4	131	1	0	0	0	0	1	0	0	0	10918	768	27	2	220	2	OR10A6	11	7949483	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1298378	7949483	127057033	1178	21318										
NLRP10	338322	genome.wustl.edu	37	chr11	7982618	7982618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caccatttttctggcgagagTtgtctttccagtgccagccg	10	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:7982618T>C	ENST00000328600.2	-	2	702	c.541A>G	c.(541-543)Act>Gct	p.T181A		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	181	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGCGAGAGTTGTCTTTCCA	0.527																																																	0													58	60	59					11																	7982618		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.541A>G	11.37:g.7982618T>C	ENSP00000327763:p.Thr181Ala		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T181A	ENST00000328600.2	37	c.541	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	T	11.60	1.685907	0.29962	.	.	ENSG00000182261	ENST00000328600	D	0.84370	-1.84	5.25	5.25	0.73442	NACHT nucleoside triphosphatase (1);	0.000000	0.42053	D	0.000779	D	0.88070	0.6338	L	0.47190	1.495	0.24281	N	0.995206	D	0.64830	0.994	D	0.67231	0.95	T	0.80279	-0.1449	10	0.34782	T	0.22	.	11.8522	0.52417	0.0:0.0:0.0:1.0	.	181	Q86W26	NAL10_HUMAN	A	181	ENSP00000327763:T181A	ENSP00000327763:T181A	T	-	1	0	NLRP10	7939194	0.250000	0.23951	0.908000	0.35775	0.004000	0.04260	0.902000	0.28459	2.130000	0.65690	0.533000	0.62120	ACT	NLRP10	-	pfscan_NACHT_NTPase		0.527	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	T	NM_176821		7982618	-1	no_errors	ENST00000328600	ensembl	human	known	70_37	missense	SNP	0.831	C	C	7982618	T	C	7982618	3	2	131	1	0	0	0	0	1	0	0	0	10496	1725	60	5	1430	5	NLRP10	11	7982618	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	33135	7982618	127023898	1179	21319										
STK33	65975	genome.wustl.edu	37	chr11	8462277	8462277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcacactgctggctatagtCgtgggcactgataacttcag	11	10	2	1	rs144575904		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:8462277C>T	ENST00000447869.1	-	8	1813	c.895G>A	c.(895-897)Gac>Aac	p.D299N	STK33_ENST00000358872.3_Missense_Mutation_p.D112N|STK33_ENST00000534493.1_Missense_Mutation_p.D258N|STK33_ENST00000396672.1_Missense_Mutation_p.D299N|STK33_ENST00000473980.1_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.D299N|STK33_ENST00000315204.1_Missense_Mutation_p.D299N			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGCTATAGTCGTGGGCACTG	0.363																																																	0													57	43	48					11																	8462277		2198	4286	6484	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.895G>A	11.37:g.8462277C>T	ENSP00000416750:p.Asp299Asn		Q658S6|Q8NEF5	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.D299N	ENST00000447869.1	37	c.895	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473206	0.84640	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493;ENST00000524760	T;T;T;T;T;T;T;T	0.72394	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.65	5.82	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.247646	0.46758	D	0.000277	T	0.65091	0.2658	N	0.11560	0.145	0.40194	D	0.977437	D;D	0.65815	0.995;0.99	P;P	0.59825	0.828;0.864	T	0.65138	-0.6241	10	0.24483	T	0.36	.	12.9558	0.58427	0.0:0.8654:0.0:0.1346	.	258;299	B4DDH2;Q9BYT3	.;STK33_HUMAN	N	299;299;299;112;299;54;258;211	ENSP00000416750:D299N;ENSP00000320754:D299N;ENSP00000379905:D299N;ENSP00000351743:D112N;ENSP00000379906:D299N;ENSP00000415688:D54N;ENSP00000436418:D258N;ENSP00000436905:D211N	ENSP00000320754:D299N	D	-	1	0	STK33	8418853	0.999000	0.42202	0.989000	0.46669	0.995000	0.86356	3.853000	0.55941	1.471000	0.48121	0.563000	0.77884	GAC	STK33	-	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		0.363	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	C	NM_030906		8462277	-1	no_errors	ENST00000315204	ensembl	human	known	70_37	missense	SNP	0.996	T	T	8462277	C	T	8462277	3	4	131	1	0	0	0	0	1	0	0	0	15330	884	31	1	669	1	STK33	11	8462277	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	479659	8462277	126544239	1180	21320										
SCUBE2	57758	genome.wustl.edu	37	chr11	9080863	9080863	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacataccttggcaagacttCtcatctgttaataatttaaa	4	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:9080863C>A	ENST00000309263.3	-	9	1149	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E359D|SCUBE2_ENST00000457346.2_Missense_Mutation_p.E359D|SCUBE2_ENST00000450649.2_Missense_Mutation_p.E359D|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	359	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGCAAGACTTCTCATCTGTTA	0.488																																																	0													86	78	81					11																	9080863		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1077G>T	11.37:g.9080863C>A	ENSP00000310658:p.Glu359Asp		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E359D	ENST00000309263.3	37	c.1077		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.478754|3.478754	0.63849|0.63849	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467|ENST00000519788;ENST00000531429	D;D;D;D|.	0.96459|.	-4.02;-4.02;-4.02;-4.02|.	5.85|5.85	3.67|3.67	0.42095|0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52581|0.52581	0.1743|0.1743	L|L	0.35593|0.35593	1.075|1.075	0.53005|0.53005	D|D	0.999963|0.999963	D;D;D|.	0.76494|.	0.997;0.999;0.998|.	D;D;D|.	0.73380|.	0.968;0.98;0.978|.	T|T	0.47861|0.47861	-0.9084|-0.9084	10|5	0.44086|.	T|.	0.13|.	.|.	11.5913|11.5913	0.50947|0.50947	0.0:0.7601:0.0:0.2399|0.0:0.7601:0.0:0.2399	.|.	359;359;359|.	Q9NQ36-3;Q9NQ36-2;Q9NQ36|.	.;.;SCUB2_HUMAN|.	D|I	359|83;124	ENSP00000390481:E359D;ENSP00000310658:E359D;ENSP00000415187:E359D;ENSP00000429969:E359D|.	ENSP00000310658:E359D|.	E|R	-|-	3|2	2|0	SCUBE2|SCUBE2	9037439|9037439	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.683000|0.683000	0.25349|0.25349	1.482000|1.482000	0.48325|0.48325	0.585000|0.585000	0.79938|0.79938	GAG|AGA	SCUBE2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.488	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9080863	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9080863	C	A	9080863	3	1	131	1	0	0	0	0	1	0	0	0	13975	912	32	3	2069	3	SCUBE2	11	9080863	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	618586	9080863	125925653	1181	21321										
RNF141	50862	genome.wustl.edu	37	chr11	10555624	10555624	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agttaaggagccactctctcGaaccaacgtaacatgttttg	8	10	1	0	rs144898917		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:10555624G>A	ENST00000265981.2	-	2	224	c.82C>T	c.(82-84)Cga>Tga	p.R28*	RNF141_ENST00000528665.1_Nonsense_Mutation_p.R28*	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	28					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CCACTCTCTCGAACCAACGTA	0.383																																					Ovarian(8;377 410 25844 26058 41491)												0								G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	175	158	164		82	3.9	1	11	dbSNP_134	164	0,8588		0,0,4294	no	stop-gained	RNF141	NM_016422.3		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		28/231	10555624	1,12989	2201	4294	6495	SO:0001587	stop_gained	50862			AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"RING-type (C3HC4) zinc fingers"	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.82C>T	11.37:g.10555624G>A	ENSP00000265981:p.Arg28*		A8K149|Q9NZB4	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R28*	ENST00000265981.2	37	c.82	CCDS7803.1	11	.	.	.	.	.	.	.	.	.	.	G	37	5.977512	0.97168	2.27E-4	0.0	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	.	.	.	5.77	3.87	0.44632	.	0.127062	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5576	10.737	0.46130	0.068:0.0:0.7997:0.1322	.	.	.	.	X	28	.	ENSP00000265981:R28X	R	-	1	2	RNF141	10512200	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.212000	0.77941	0.755000	0.32990	0.655000	0.94253	CGA	RNF141	-	NULL		0.383	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF141	HGNC	protein_coding	OTTHUMT00000385888.1	G	NM_016422		10555624	-1	no_errors	ENST00000265981	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10555624	G	A	10555624	4	1	131	1	0	0	0	0	0	1	0	0	13474	1066	37	1	630	1	RNF141	11	10555624	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1474761	10555624	124450892	1182	21322										
CTR9	9646	genome.wustl.edu	37	chr11	10795559	10795559	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagtgttgtttggattttagCgttctaagaagggaggagag	15	2	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:10795559C>T	ENST00000361367.2	+	22	3154	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	910	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGATTTTAGCGTTCTAAGAA	0.398																																																	0													151	146	147					11																	10795559		2201	4294	6495	SO:0001630	splice_region_variant	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2728-1C>T	11.37:g.10795559C>T			D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R910C	ENST00000361367.2	37	c.2728	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652869	0.88056	.	.	ENSG00000198730	ENST00000361367	T	0.52295	0.67	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.60611	-0.7229	9	.	.	.	-12.4696	15.1109	0.72355	0.1414:0.8586:0.0:0.0	.	910	Q6PD62	CTR9_HUMAN	C	910	ENSP00000355013:R910C	.	R	+	1	0	CTR9	10752135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.864000	0.62990	2.826000	0.97356	0.655000	0.94253	CGT	CTR9	-	NULL		0.398	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	C	NM_014633	Missense_Mutation	10795559	1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10795559	C	T	10795559	5	4	131	1	0	0	0	0	0	0	1	0	4029	782	27	2	2814	2	CTR9	11	10795559	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	239935	10795559	124210957	1183	21323										
MICAL2	9645	genome.wustl.edu	37	chr11	12183914	12183914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgtggtacaaattggataAgcgtggttcccacaaagagt	11	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:12183914A>C	ENST00000256194.4	+	3	500	c.212A>C	c.(211-213)aAg>aCg	p.K71T	MICAL2_ENST00000527546.1_Missense_Mutation_p.K71T|MICAL2_ENST00000342902.5_Missense_Mutation_p.K71T|MICAL2_ENST00000537344.1_Missense_Mutation_p.K71T|MICAL2_ENST00000379612.3_Missense_Mutation_p.K71T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	71	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAATTGGATAAGCGTGGTTCC	0.512																																																	0													69	65	66					11																	12183914		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.212A>C	11.37:g.12183914A>C	ENSP00000256194:p.Lys71Thr		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K71T	ENST00000256194.4	37	c.212	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822296	0.90873	.	.	ENSG00000133816	ENST00000537344;ENST00000532179;ENST00000526065;ENST00000256194;ENST00000532420;ENST00000527546;ENST00000342902;ENST00000524685;ENST00000525119;ENST00000533389;ENST00000379612	T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.55	5.55	0.83447	.	0.058391	0.64402	D	0.000003	T	0.63674	0.2531	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.995;0.998;0.999;1.0;0.998	D;D;D;D;D;D	0.81914	0.995;0.975;0.985;0.989;0.99;0.983	T	0.69030	-0.5253	10	0.72032	D	0.01	.	15.5202	0.75859	1.0:0.0:0.0:0.0	.	71;71;71;71;71;71	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	T	71	ENSP00000441689:K71T;ENSP00000434209:K71T;ENSP00000435270:K71T;ENSP00000256194:K71T;ENSP00000433818:K71T;ENSP00000433965:K71T;ENSP00000344894:K71T;ENSP00000437229:K71T;ENSP00000433509:K71T;ENSP00000433357:K71T;ENSP00000368932:K71T	ENSP00000256194:K71T	K	+	2	0	MICAL2	12140490	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.333000	0.79357	0.533000	0.62120	AAG	MICAL2	-	NULL		0.512	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	A	NM_014632		12183914	1	no_errors	ENST00000256194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12183914	A	C	12183914	3	2	131	1	0	0	0	0	1	0	0	0	9593	72	3	5	214	5	MICAL2	11	12183914	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1388355	12183914	122822602	1184	21324										
MICAL2	9645	genome.wustl.edu	37	chr11	12281400	12281400	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agacactcccaccgaaagttCttgcgcagtggccgccattg	10	14	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:12281400C>A	ENST00000256194.4	+	26	3578	c.3290C>A	c.(3289-3291)tCt>tAt	p.S1097Y	MICAL2_ENST00000527546.1_Missense_Mutation_p.S907Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.S1076Y|MICAL2_ENST00000537344.1_Missense_Mutation_p.S907Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.S871Y|RP11-265D17.2_ENST00000527288.1_RNA	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1097					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACCGAAAGTTCTTGCGCAGTG	0.587																																																	0													48	49	49					11																	12281400		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3290C>A	11.37:g.12281400C>A	ENSP00000256194:p.Ser1097Tyr		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1097Y	ENST00000256194.4	37	c.3290	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464811	0.43839	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62105	0.05;0.06;0.05;0.07;0.13	5.37	4.45	0.53987	.	1.018760	0.07827	N	0.960726	T	0.65502	0.2697	N	0.19112	0.55	0.27614	N	0.948566	D;D;P;D;P;B	0.61080	0.989;0.986;0.875;0.984;0.94;0.01	P;P;B;P;P;B	0.59487	0.726;0.858;0.271;0.73;0.459;0.003	T	0.60073	-0.7334	10	0.72032	D	0.01	.	13.1459	0.59461	0.0:0.9223:0.0:0.0777	.	440;1076;907;850;871;1097	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	Y	907;440;1097;907;1076;871	ENSP00000441689:S907Y;ENSP00000256194:S1097Y;ENSP00000433965:S907Y;ENSP00000344894:S1076Y;ENSP00000368932:S871Y	ENSP00000256194:S1097Y	S	+	2	0	MICAL2	12237976	0.993000	0.37304	0.996000	0.52242	0.040000	0.13550	1.488000	0.35551	2.492000	0.84095	0.591000	0.81541	TCT	MICAL2	-	NULL		0.587	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	C	NM_014632		12281400	1	no_errors	ENST00000256194	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12281400	C	A	12281400	3	1	131	1	0	0	0	0	1	0	0	0	9593	913	32	3	3384	3	MICAL2	11	12281400	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	97486	12281400	122725116	1185	21325										
TPH1	7166	genome.wustl.edu	37	chr11	18057643	18057643	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctcaaattctgagtttcttCtttttgattttcgggactcg	7	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18057643C>A	ENST00000250018.2	-	2	726	c.164G>T	c.(163-165)aGa>aTa	p.R55I	TPH1_ENST00000341556.2_Missense_Mutation_p.R55I	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	55	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAGTTTCTTCTTTTTGATTT	0.353																																																	0													115	109	111					11																	18057643		2199	4293	6492	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.164G>T	11.37:g.18057643C>A	ENSP00000250018:p.Arg55Ile		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.R55I	ENST00000250018.2	37	c.164	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880016	0.91740	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99136	-5.47;-5.47;-5.47	5.51	4.59	0.56863	Amino acid-binding ACT (1);	0.040274	0.85682	D	0.000000	D	0.98305	0.9438	M	0.79614	2.46	0.80722	D	1	B	0.17852	0.024	B	0.29077	0.098	D	0.98358	1.0547	10	0.45353	T	0.12	-13.2604	15.0807	0.72113	0.0:0.9304:0.0:0.0696	.	55	P17752	TPH1_HUMAN	I	55;55;65	ENSP00000250018:R55I;ENSP00000343550:R55I;ENSP00000436081:R65I	ENSP00000250018:R55I	R	-	2	0	TPH1	18014219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.008000	0.70739	1.433000	0.47394	0.655000	0.94253	AGA	TPH1	-	pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	C	NM_004179		18057643	-1	no_errors	ENST00000341556	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18057643	C	A	18057643	3	1	131	1	0	0	0	0	1	0	0	0	16432	913	32	3	1206	3	TPH1	11	18057643	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5776243	18057643	116948873	1186	21326										
HPS5	11234	genome.wustl.edu	37	chr11	18303547	18303547	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcgcaggttctggtaaacttCtctgacaactcaagggccag	10	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18303547C>A	ENST00000349215.3	-	22	3556	c.3279G>T	c.(3277-3279)gaG>gaT	p.E1093D	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.E979D|HPS5_ENST00000537258.1_Missense_Mutation_p.E200D|HPS5_ENST00000396253.3_Missense_Mutation_p.E979D	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1093					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGTAAACTTCTCTGACAACT	0.493									Hermansky-Pudlak syndrome																																								0													131	124	127					11																	18303547		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3279G>T	11.37:g.18303547C>A	ENSP00000265967:p.Glu1093Asp		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.E1093D	ENST00000349215.3	37	c.3279	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428830	0.62844	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.58358	0.37;0.37;0.34	4.82	2.93	0.34026	.	0.239754	0.42294	D	0.000727	T	0.41236	0.1150	L	0.44542	1.39	0.80722	D	1	P	0.43788	0.817	B	0.39258	0.295	T	0.22800	-1.0206	10	0.48119	T	0.1	.	8.9628	0.35858	0.0:0.6893:0.0:0.3107	.	1093	Q9UPZ3	HPS5_HUMAN	D	979;979;1093;200	ENSP00000379552:E979D;ENSP00000399590:E979D;ENSP00000265967:E1093D	ENSP00000265967:E1093D	E	-	3	2	HPS5	18260123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.721000	0.25911	0.607000	0.29982	0.650000	0.86243	GAG	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.493	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507		18303547	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18303547	C	A	18303547	3	1	131	1	0	0	0	0	1	0	0	0	7362	912	32	3	118	3	HPS5	11	18303547	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	245904	18303547	116702969	1187	21327										
HPS5	11234	genome.wustl.edu	37	chr11	18306950	18306950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttataaaatctgcaggaagtTtaattagatgaaggatcagc	9	4	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18306950T>G	ENST00000349215.3	-	20	3171	c.2894A>C	c.(2893-2895)aAa>aCa	p.K965T	HPS5_ENST00000352460.3_Intron|HPS5_ENST00000438420.2_Missense_Mutation_p.K851T|HPS5_ENST00000537258.1_Missense_Mutation_p.K72T|HPS5_ENST00000396253.3_Missense_Mutation_p.K851T	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	965					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCAGGAAGTTTAATTAGATG	0.353									Hermansky-Pudlak syndrome																																								0													66	70	69					11																	18306950		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2894A>C	11.37:g.18306950T>G	ENSP00000265967:p.Lys965Thr		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.K965T	ENST00000349215.3	37	c.2894	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335906	0.81801	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258;ENST00000544218	T;T;T	0.56776	0.44;0.44;0.44	5.93	5.93	0.95920	.	0.051781	0.85682	D	0.000000	T	0.68247	0.2980	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.70506	-0.4853	10	0.72032	D	0.01	.	16.3783	0.83418	0.0:0.0:0.0:1.0	.	965	Q9UPZ3	HPS5_HUMAN	T	851;851;965;72;151	ENSP00000379552:K851T;ENSP00000399590:K851T;ENSP00000265967:K965T	ENSP00000265967:K965T	K	-	2	0	HPS5	18263526	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.281000	0.58965	2.261000	0.74972	0.477000	0.44152	AAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.353	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	T	NM_181507		18306950	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18306950	T	G	18306950	3	3	131	1	0	0	0	0	1	0	0	0	7362	1841	64	5	511	5	HPS5	11	18306950	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3403	18306950	116699566	1188	21328										
HPS5	11234	genome.wustl.edu	37	chr11	18317559	18317559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtttacctttctttgacagCctgaagagacacaagaggag	11	8	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18317559C>A	ENST00000349215.3	-	13	1898	c.1621G>T	c.(1621-1623)Gct>Tct	p.A541S	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.A427S|HPS5_ENST00000396253.3_Missense_Mutation_p.A427S	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	541					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTTTGACAGCCTGAAGAGAC	0.378									Hermansky-Pudlak syndrome																																								0													134	132	133					11																	18317559		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1621G>T	11.37:g.18317559C>A	ENSP00000265967:p.Ala541Ser		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.A541S	ENST00000349215.3	37	c.1621	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600174	0.87055	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.67698	-0.28;-0.28;-0.24	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82892	-0.0232	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	541	Q9UPZ3	HPS5_HUMAN	S	427;427;541	ENSP00000379552:A427S;ENSP00000399590:A427S;ENSP00000265967:A541S	ENSP00000265967:A541S	A	-	1	0	HPS5	18274135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.568000	0.73987	2.631000	0.89168	0.650000	0.86243	GCT	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.378	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507		18317559	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18317559	C	A	18317559	3	1	131	1	0	0	0	0	1	0	0	0	7362	739	26	4	1812	4	HPS5	11	18317559	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	10609	18317559	116688957	1189	21329										
HPS5	11234	genome.wustl.edu	37	chr11	18327893	18327893	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccaattttccaaaacttttCtctaacatccagaaaggaag	4	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18327893C>A	ENST00000349215.3	-	7	890	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	HPS5_ENST00000438420.2_Splice_Site_p.E91*|HPS5_ENST00000531848.1_Splice_Site_p.E91*|HPS5_ENST00000396253.3_Splice_Site_p.E91*	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	205					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAAACTTTTCTCTAACATCC	0.383									Hermansky-Pudlak syndrome																																								0													54	54	54					11																	18327893		2199	4293	6492	SO:0001630	splice_region_variant	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.612-1G>T	11.37:g.18327893C>A			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.E205*	ENST00000349215.3	37	c.613	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.534140	0.98342	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	.	.	.	X	91;91;205;91	.	ENSP00000265967:E205X	E	-	1	0	HPS5	18284469	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.320000	0.79064	2.685000	0.91497	0.585000	0.79938	GAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.383	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507	Nonsense_Mutation	18327893	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18327893	C	A	18327893	5	1	131	1	0	0	0	0	0	0	1	0	7362	927	32	3	2844	3	HPS5	11	18327893	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	10334	18327893	116678623	1190	21330										
PTPN5	84867	genome.wustl.edu	37	chr11	18751071	18751071	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgccgcagctgctggcagcaGatgctggtggcaatgaagca	15	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18751071G>T	ENST00000358540.2	-	14	1963	c.1533C>A	c.(1531-1533)atC>atA	p.I511I	PTPN5_ENST00000477854.1_Silent_p.I315I|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Silent_p.I479I|PTPN5_ENST00000396167.2_Silent_p.I479I|PTPN5_ENST00000396168.1_Silent_p.I487I|PTPN5_ENST00000396166.3_Silent_p.I117I|PTPN5_ENST00000396171.4_Silent_p.I511I	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	511	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCTGGCAGCAGATGCTGGTGG	0.692																																																	0													37	38	38					11																	18751071		2199	4293	6492	SO:0001819	synonymous_variant	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1533C>A	11.37:g.18751071G>T			B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.I511	ENST00000358540.2	37	c.1533	CCDS7845.1	11																																																																																			PTPN5	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con		0.692	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2	G	NM_001039970		18751071	-1	no_errors	ENST00000358540	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18751071	G	T	18751071	2	4	131	1	0	0	0	0	0	0	0	1	12821	932	33	3		3	PTPN5	11	18751071	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	423178	18751071	116255445	1191	21331										
ANO5	203859	genome.wustl.edu	37	chr11	22294416	22294416	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaataatattgtagagattCgagtggatgcctggaaactt	10	4	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:22294416C>T	ENST00000324559.8	+	19	2433	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	706					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTAGAGATTCGAGTGGATGC	0.388																																																	0													139	127	131					11																	22294416		2203	4300	6503	SO:0001587	stop_gained	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2116C>T	11.37:g.22294416C>T	ENSP00000315371:p.Arg706*			Nonsense_Mutation	SNP	pfam_Anoctamin	p.R706*	ENST00000324559.8	37	c.2116	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	c	43	10.116441	0.99339	.	.	ENSG00000171714	ENST00000324559	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7169	0.69275	0.1449:0.8551:0.0:0.0	.	.	.	.	X	706	.	ENSP00000315371:R706X	R	+	1	2	ANO5	22250992	0.996000	0.38824	0.996000	0.52242	0.995000	0.86356	3.387000	0.52501	2.776000	0.95493	0.651000	0.88453	CGA	ANO5	-	pfam_Anoctamin		0.388	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	C	NM_213599		22294416	1	no_errors	ENST00000324559	ensembl	human	known	70_37	nonsense	SNP	0.989	T	T	22294416	C	T	22294416	4	4	131	1	0	0	0	0	0	1	0	0	700	876	31	1	2190	1	ANO5	11	22294416	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3543345	22294416	112712100	1192	21332										
LUZP2	338645	genome.wustl.edu	37	chr11	24759791	24759791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaatgaagtctcttcaggaGgccctgcaaaatcagcttaa	9	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:24759791G>A	ENST00000336930.6	+	4	342	c.276G>A	c.(274-276)gaG>gaA	p.E92E	LUZP2_ENST00000533227.1_Silent_p.E6E|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	92						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTTCAGGAGGCCCTGCAAA	0.363																																																	0													72	75	74					11																	24759791		2203	4300	6503	SO:0001819	synonymous_variant	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.276G>A	11.37:g.24759791G>A			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	NULL	p.E92	ENST00000336930.6	37	c.276	CCDS31446.1	11																																																																																			LUZP2	-	NULL		0.363	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	G	NM_001009909		24759791	1	no_errors	ENST00000336930	ensembl	human	known	70_37	silent	SNP	0.999	A	A	24759791	G	A	24759791	2	1	131	1	0	0	0	0	0	0	0	1	9110	991	35	4		4	LUZP2	11	24759791	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2465375	24759791	110246725	1193	21333										
KCNA4	3739	genome.wustl.edu	37	chr11	30032823	30032823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctggctctgagggtgtggCccaggatctgcaggcctttg	16	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:30032823C>A	ENST00000328224.6	-	2	2636	c.1403G>T	c.(1402-1404)gGc>gTc	p.G468V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	468					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGGTGTGGCCCAGGATCTG	0.537																																																	0													54	57	56					11																	30032823		2089	4247	6336	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1403G>T	11.37:g.30032823C>A	ENSP00000328511:p.Gly468Val			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G468V	ENST00000328224.6	37	c.1403	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741212	0.69304	.	.	ENSG00000182255	ENST00000328224	D	0.98419	-4.92	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.99831	1.1054	10	0.87932	D	0	.	19.563	0.95380	0.0:1.0:0.0:0.0	.	468	P22459	KCNA4_HUMAN	V	468	ENSP00000328511:G468V	ENSP00000328511:G468V	G	-	2	0	KCNA4	29989399	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.619000	0.88677	0.650000	0.86243	GGC	KCNA4	-	pfam_Ion_trans_dom,prints_K_chnl		0.537	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	C	NM_002233		30032823	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30032823	C	A	30032823	3	1	131	1	0	0	0	0	1	0	0	0	8025	739	26	4	562	4	KCNA4	11	30032823	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5273032	30032823	104973693	1194	21334										
KCNA4	3739	genome.wustl.edu	37	chr11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggtcatgggaggtacaggCcccgcgtgactggtggtggt	19	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:30034018C>T	ENST00000328224.6	-	2	1441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGTACAGGCCCCGCGTGAC	0.662																																																	0													39	41	40					11																	30034018		1963	4141	6104	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.208G>A	11.37:g.30034018C>T	ENSP00000328511:p.Ala70Thr			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A70T	ENST00000328224.6	37	c.208	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529385	0.27387	.	.	ENSG00000182255	ENST00000328224	D	0.97279	-4.32	4.75	-0.486	0.12064	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	32.803700	0.00166	N	0.000000	D	0.91459	0.7304	N	0.14661	0.345	0.40374	D	0.979373	B	0.06786	0.001	B	0.10450	0.005	T	0.81924	-0.0710	10	0.21014	T	0.42	.	3.1496	0.06483	0.1229:0.5552:0.1197:0.2021	.	70	P22459	KCNA4_HUMAN	T	70	ENSP00000328511:A70T	ENSP00000328511:A70T	A	-	1	0	KCNA4	29990594	0.998000	0.40836	0.503000	0.27626	0.574000	0.36063	2.355000	0.44107	0.093000	0.17368	0.491000	0.48974	GCC	KCNA4	-	pfam_K_chnl_volt-dep_Kv1.4_TID		0.662	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	C	NM_002233		30034018	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	missense	SNP	0.992	T	T	30034018	C	T	30034018	3	4	131	1	0	0	0	0	1	0	0	0	8025	739	26	4	1757	4	KCNA4	11	30034018	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1195	30034018	104972498	1195	21335										
MPPED2	744	genome.wustl.edu	37	chr11	30516990	30516990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtagtagtcctgtttaacaAggtctgccatgaattcctta	9	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:30516990A>G	ENST00000358117.5	-	3	511	c.389T>C	c.(388-390)cTt>cCt	p.L130P	MPPED2_ENST00000448418.2_Missense_Mutation_p.L130P	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	130					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGTTTAACAAGGTCTGCCAT	0.383																																																	0													151	140	144					11																	30516990		2202	4299	6501	SO:0001583	missense	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.389T>C	11.37:g.30516990A>G	ENSP00000350833:p.Leu130Pro		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.L130P	ENST00000358117.5	37	c.389	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007898	0.75046	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.85702	-2.02;-2.02	5.61	5.61	0.85477	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88908	0.6565	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.88034	0.2777	10	0.36615	T	0.2	-7.2782	15.7958	0.78409	1.0:0.0:0.0:0.0	.	130;130	Q15777;E9PB10	MPPD2_HUMAN;.	P	130	ENSP00000388258:L130P;ENSP00000350833:L130P	ENSP00000350833:L130P	L	-	2	0	MPPED2	30473566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.134000	0.65973	0.533000	0.62120	CTT	MPPED2	-	pfam_Metallo_PEstase_dom		0.383	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	A	NM_001584		30516990	-1	no_errors	ENST00000358117	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30516990	A	G	30516990	3	3	131	1	0	0	0	0	1	0	0	0	9765	72	3	5	583	5	MPPED2	11	30516990	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	482972	30516990	104489526	1196	21336										
WT1	7490	genome.wustl.edu	37	chr11	32439182	32439182	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgcattcaagctgggatgtCatttggtataaattgtcact	9	6	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:32439182C>A	ENST00000379079.2	-	4	528	c.255G>T	c.(253-255)atG>atT	p.M85I	WT1_ENST00000448076.3_Missense_Mutation_p.M297I|WT1_ENST00000332351.3_Missense_Mutation_p.M297I|WT1_ENST00000530998.1_Missense_Mutation_p.M85I	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	229					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GCTGGGATGTCATTTGGTATA	0.358			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0													117	108	111					11																	32439182		2202	4299	6501	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.255G>T	11.37:g.32439182C>A	ENSP00000368370:p.Met85Ile		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.M297I	ENST00000379079.2	37	c.891	CCDS55751.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405898	0.83230	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	6.06	6.06	0.98353	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91570	0.7337	L	0.54323	1.7	0.58432	D	0.999999	P;D;P;P;P	0.62365	0.907;0.991;0.923;0.912;0.911	P;P;P;P;P	0.61658	0.492;0.892;0.578;0.672;0.648	D	0.89850	0.4009	10	0.42905	T	0.14	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	302;229;302;85;85	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	I	85;297;85;297;297;48	ENSP00000368370:M85I;ENSP00000331327:M297I;ENSP00000435307:M85I;ENSP00000415516:M297I;ENSP00000413452:M297I;ENSP00000435351:M48I	ENSP00000331327:M297I	M	-	3	0	WT1	32395758	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.453000	0.73488	2.880000	0.98712	0.650000	0.86243	ATG	WT1	-	pfam_Wilms_tumour_N		0.358	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095434.1	C	NM_000378		32439182	-1	no_errors	ENST00000332351	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32439182	C	A	32439182	3	1	131	1	0	0	0	0	1	0	0	0	17439	826	29	3	690	3	WT1	11	32439182	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1922192	32439182	102567334	1197	21337										
QSER1	79832	genome.wustl.edu	37	chr11	32953621	32953621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcaagagtctgcaccccatCttttacaacctcaatttagt	4	13	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:32953621C>A	ENST00000399302.2	+	4	765	c.430C>A	c.(430-432)Ctt>Att	p.L144I	QSER1_ENST00000527788.1_Missense_Mutation_p.L144I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	144	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGCACCCCATCTTTTACAACC	0.468																																																	0													144	138	140					11																	32953621		1925	4140	6065	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.430C>A	11.37:g.32953621C>A	ENSP00000382241:p.Leu144Ile		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.L144I	ENST00000399302.2	37	c.430	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802391	0.50315	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.79033	-1.23;-1.23	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000023	D	0.85630	0.5741	L	0.50333	1.59	0.36295	D	0.856634	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.87560	0.2471	10	0.48119	T	0.1	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	144;144	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	I	144	ENSP00000382241:L144I;ENSP00000432766:L144I	ENSP00000078652:L144I	L	+	1	0	QSER1	32910197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.714000	0.68422	2.579000	0.87056	0.655000	0.94253	CTT	QSER1	-	NULL		0.468	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	C	NM_024774		32953621	1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32953621	C	A	32953621	3	1	131	1	0	0	0	0	1	0	0	0	12912	913	32	3	436	3	QSER1	11	32953621	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	514439	32953621	102052895	1198	21338										
C11orf41	25758	genome.wustl.edu	37	chr11	33631415	33631415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agacgagcaagggtctgaccGaaagaaagaagatgtatgaa	13	5	1	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:33631415G>A	ENST00000321505.4	+	14	4471	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1437K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1431						integral component of membrane (GO:0016021)											GGGTCTGACCGAAAGAAAGAA	0.483																																																	0													67	72	70					11																	33631415		1931	4133	6064	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4291G>A	11.37:g.33631415G>A	ENSP00000315295:p.Glu1431Lys		B0QYU0	Missense_Mutation	SNP	NULL	p.E1437K	ENST00000321505.4	37	c.4309	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631656	0.67015	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.54	5.54	0.83059	.	0.334792	0.34025	N	0.004338	T	0.78566	0.4303	M	0.66939	2.045	0.38639	D	0.951573	D	0.89917	1.0	D	0.70227	0.968	T	0.81084	-0.1093	9	0.66056	D	0.02	-8.5903	19.4802	0.95007	0.0:0.0:1.0:0.0	.	1437	E9PAT2	.	K	1431;1437;1270	.	ENSP00000315295:E1431K	E	+	1	0	C11orf41	33587991	1.000000	0.71417	0.178000	0.23040	0.040000	0.13550	6.014000	0.70784	2.601000	0.87937	0.655000	0.94253	GAA	KIAA1549L	-	NULL		0.483	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33631415	1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	0.993	A	A	33631415	G	A	33631415	3	1	131	1	0	0	0	0	1	0	0	0	1644	1059	37	1	4363	1	C11orf41	11	33631415	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	677794	33631415	101375101	1199	21339										
PDHX	8050	genome.wustl.edu	37	chr11	34999698	34999698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaagtatcagtaaatgattTtatcatcaaggcagcagctg	8	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:34999698T>G	ENST00000227868.4	+	8	1076	c.992T>G	c.(991-993)tTt>tGt	p.F331C	PDHX_ENST00000448838.3_Missense_Mutation_p.F316C|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	331					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GTAAATGATTTTATCATCAAG	0.294																																																	0													133	136	135					11																	34999698		2202	4292	6494	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.992T>G	11.37:g.34999698T>G	ENSP00000227868:p.Phe331Cys		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.F331C	ENST00000227868.4	37	c.992	CCDS7896.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.67|19.67	3.870889|3.870889	0.72065|0.72065	.|.	.|.	ENSG00000110435|ENSG00000110435	ENST00000448838;ENST00000227868|ENST00000526309	T;T|.	0.52295|.	0.67;0.67|.	5.74|5.74	5.74|5.74	0.90152|0.90152	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80082|0.80082	0.4558|0.4558	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	P;P|.	0.47350|.	0.894;0.701|.	P;P|.	0.58873|.	0.847;0.617|.	T|T	0.83330|0.83330	-0.0013|-0.0013	10|5	0.87932|.	D|.	0|.	-20.3083|-20.3083	13.9889|13.9889	0.64353|0.64353	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	316;331|.	E9PB14;O00330|.	.;ODPX_HUMAN|.	C|V	316;331|19	ENSP00000389404:F316C;ENSP00000227868:F331C|.	ENSP00000227868:F331C|.	F|L	+|+	2|1	0|2	PDHX|PDHX	34956274|34956274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.226000|7.226000	0.78060|0.78060	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	TTT|TTA	PDHX	-	pfam_2-oxoacid_DH_actylTfrase		0.294	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	T	NM_003477		34999698	1	no_errors	ENST00000227868	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34999698	T	G	34999698	3	3	131	1	0	0	0	0	1	0	0	0	11691	1841	64	5	1141	5	PDHX	11	34999698	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1368283	34999698	100006818	1200	21340										
ACCSL	390110	genome.wustl.edu	37	chr11	44074225	44074225	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttccagaggccttcctggtCcctgctcccttctatggtgg	10	14	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:44074225C>T	ENST00000378832.1	+	6	842	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	262					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCTTCCTGGTCCCTGCTCCCT	0.542																																																	0													300	292	295					11																	44074225		1934	4133	6067	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.786C>T	11.37:g.44074225C>T				Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V262	ENST00000378832.1	37	c.786	CCDS41636.1	11																																																																																			ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	C	NM_001031854		44074225	1	no_errors	ENST00000378832	ensembl	human	known	70_37	silent	SNP	0.995	T	T	44074225	C	T	44074225	2	4	131	1	0	0	0	0	0	0	0	1	134	842	30	1		1	ACCSL	11	44074225	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9074527	44074225	90932291	1201	21341										
DDB2	1643	genome.wustl.edu	37	chr11	47256412	47256412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtagatcaaacagtgaaaatTtgggacctgcgccaggttag	12	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:47256412T>G	ENST00000256996.4	+	6	1002	c.807T>G	c.(805-807)atT>atG	p.I269M	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.I205M|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	269					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CAGTGAAAATTTGGGACCTGC	0.532			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													49	48	48					11																	47256412		2201	4298	6499	SO:0001583	missense	1643	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.807T>G	11.37:g.47256412T>G	ENSP00000256996:p.Ile269Met		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I269M	ENST00000256996.4	37	c.807	CCDS7927.1	11	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379331	0.61845	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.65916	-0.18;-0.18	5.68	1.66	0.24008	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.164825	0.53938	D	0.000051	T	0.62636	0.2444	L	0.51914	1.62	0.80722	D	1	P;D	0.57899	0.858;0.981	B;P	0.55615	0.415;0.78	T	0.60657	-0.7220	10	0.66056	D	0.02	-22.5164	5.8929	0.18923	0.0:0.5885:0.1255:0.286	.	205;269	Q92466-4;Q92466	.;DDB2_HUMAN	M	269;205	ENSP00000256996:I269M;ENSP00000367866:I205M	ENSP00000256996:I269M	I	+	3	3	DDB2	47212988	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.213000	0.17521	0.327000	0.23409	-0.230000	0.12252	ATT	DDB2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.532	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		T	NM_000107		47256412	1	no_errors	ENST00000256996	ensembl	human	known	70_37	missense	SNP	0.998	G	G	47256412	T	G	47256412	3	3	131	1	0	0	0	0	1	0	0	0	4329	1829	64	5	829	5	DDB2	11	47256412	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3182187	47256412	87750104	1202	21342										
OR4X2	119764	genome.wustl.edu	37	chr11	48267500	48267500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccctgtcatctactctctgaGaaatgctgaaatgaggaagg	10	9	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:48267500G>T	ENST00000302329.3	+	1	893	c.845G>T	c.(844-846)aGa>aTa	p.R282I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TACTCTCTGAGAAATGCTGAA	0.453																																																	0													112	105	107					11																	48267500		2201	4298	6499	SO:0001583	missense	119764			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.845G>T	11.37:g.48267500G>T	ENSP00000307751:p.Arg282Ile		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R282I	ENST00000302329.3	37	c.845	CCDS31486.1	11	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570478	0.65765	.	.	ENSG00000172208	ENST00000302329	T	0.39056	1.1	5.47	4.56	0.56223	.	0.000000	0.64402	D	0.000014	T	0.69824	0.3154	M	0.91300	3.195	0.41670	D	0.989234	D	0.89917	1.0	D	0.91635	0.999	T	0.76979	-0.2758	10	0.87932	D	0	.	12.0266	0.53373	0.0838:0.0:0.9162:0.0	.	282	Q8NGF9	OR4X2_HUMAN	I	282	ENSP00000307751:R282I	ENSP00000307751:R282I	R	+	2	0	OR4X2	48224076	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.612000	0.61169	1.302000	0.44855	0.650000	0.86243	AGA	OR4X2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.453	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	HGNC	protein_coding	OTTHUMT00000383376.2	G	NM_001004727		48267500	1	no_errors	ENST00000302329	ensembl	human	known	70_37	missense	SNP	0.998	T	T	48267500	G	T	48267500	3	4	131	1	0	0	0	0	1	0	0	0	11109	942	33	3	847	3	OR4X2	11	48267500	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1011088	48267500	86739016	1203	21343										
OR4C3	256144	genome.wustl.edu	37	chr11	48346655	48346655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacagagagttctctttgtgGtctttttgctgatctatgtg	10	6	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:48346655G>A	ENST00000319856.4	+	1	184	c.163G>A	c.(163-165)Gtc>Atc	p.V55I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTCTTTGTGGTCTTTTTGCT	0.463																																																	0													148	129	136					11																	48346655		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.163G>A	11.37:g.48346655G>A	ENSP00000321419:p.Val55Ile		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V55I	ENST00000319856.4	37	c.163	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263436	0.23051	.	.	ENSG00000176547	ENST00000319856	T	0.02916	4.11	5.88	-8.13	0.01073	.	1.321480	0.05382	N	0.537370	T	0.01765	0.0056	L	0.28192	0.835	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46345	-0.9198	10	0.24483	T	0.36	.	1.9969	0.03459	0.171:0.3336:0.158:0.3375	.	28	Q8NH37	OR4C3_HUMAN	I	55	ENSP00000321419:V55I	ENSP00000321419:V55I	V	+	1	0	OR4C3	48303231	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-3.040000	0.00633	-1.608000	0.01587	-0.309000	0.09137	GTC	OR4C3	-	prints_GPCR_Rhodpsn		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	G	NM_001004702		48346655	1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48346655	G	A	48346655	3	1	131	1	0	0	0	0	1	0	0	0	11074	1261	44	4	165	4	OR4C3	11	48346655	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	79155	48346655	86659861	1204	21344										
OR5D18	219438	genome.wustl.edu	37	chr11	55587477	55587477	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgatggcctatgaccgcttCgtggccatttgcaaccctct	10	13	1	2	rs373726185		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:55587477C>T	ENST00000333976.4	+	1	392	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGACCGCTTCGTGGCCATTT	0.458																																																	0								C		0,4400		0,0,2200	172	164	166		372	-7	0	11		166	1,8591		0,1,4295	no	coding-synonymous	OR5D18	NM_001001952.1		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		124/314	55587477	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.372C>T	11.37:g.55587477C>T			Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F124	ENST00000333976.4	37	c.372	CCDS31510.1	11																																																																																			OR5D18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	C	NM_001001952		55587477	1	no_errors	ENST00000333976	ensembl	human	known	70_37	silent	SNP	0.616	T	T	55587477	C	T	55587477	2	4	131	1	0	0	0	0	0	0	0	1	11181	883	31	1		1	OR5D18	11	55587477	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7240822	55587477	79419039	1205	21345										
OR5M11	219487	genome.wustl.edu	37	chr11	56309909	56309909	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggactcacaaaggtgtaaaaGacagctattattttagattc	8	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:56309909G>T	ENST00000528616.2	-	1	848	c.825C>A	c.(823-825)gtC>gtA	p.V275V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGGTGTAAAAGACAGCTATTA	0.393																																																	0													95	90	91					11																	56309909		1888	4126	6014	SO:0001819	synonymous_variant	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.825C>A	11.37:g.56309909G>T			B2RNL5|B2RNL7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V275	ENST00000528616.2	37	c.825	CCDS53629.1	11																																																																																			OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	G	NM_001005245		56309909	-1	no_errors	ENST00000528616	ensembl	human	known	70_37	silent	SNP	0.981	T	T	56309909	G	T	56309909	2	4	131	1	0	0	0	0	0	0	0	1	11198	929	33	3		3	OR5M11	11	56309909	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	722432	56309909	78696607	1206	21346										
OR5M11	219487	genome.wustl.edu	37	chr11	56310180	56310180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtatcagaacaagaaagcTtaatgagcggcgggtcagca	12	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:56310180T>G	ENST00000528616.2	-	1	577	c.554A>C	c.(553-555)aAg>aCg	p.K185T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACAAGAAAGCTTAATGAGCGG	0.502																																																	0													50	51	51					11																	56310180		2069	4217	6286	SO:0001583	missense	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.554A>C	11.37:g.56310180T>G	ENSP00000432417:p.Lys185Thr		B2RNL5|B2RNL7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K185T	ENST00000528616.2	37	c.554	CCDS53629.1	11	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068777	0.36470	.	.	ENSG00000255223	ENST00000528616	T	0.00267	8.38	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.74546	2.27	0.29424	N	0.860327	P	0.41188	0.741	B	0.42462	0.388	T	0.22800	-1.0206	9	0.35671	T	0.21	.	9.7019	0.40192	0.0:0.0827:0.0:0.9173	.	185	Q96RB7	OR5MB_HUMAN	T	185	ENSP00000432417:K185T	ENSP00000432417:K185T	K	-	2	0	OR5M11	56066756	0.000000	0.05858	0.959000	0.39883	0.921000	0.55340	-0.007000	0.12810	0.961000	0.38030	0.514000	0.50259	AAG	OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	T	NM_001005245		56310180	-1	no_errors	ENST00000528616	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56310180	T	G	56310180	3	3	131	1	0	0	0	0	1	0	0	0	11198	1609	56	5	366	5	OR5M11	11	56310180	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	271	56310180	78696336	1207	21347										
SSRP1	6749	genome.wustl.edu	37	chr11	57100475	57100475	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctgggtgggtgggacgtaGaagcgcacctccatgagaga	16	9	0	3	rs11540303	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:57100475G>T	ENST00000278412.2	-	5	761	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	165					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTGGGACGTAGAAGCGCACCT	0.587																																					Colon(89;1000 1340 6884 23013 41819)												0													174	142	153					11																	57100475		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.495C>A	11.37:g.57100475G>T	ENSP00000278412:p.Phe165Leu		Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.F165L	ENST00000278412.2	37	c.495	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422631	0.43020	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.46451	0.87;0.87;0.87	6.04	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.56340	1.77	0.58432	D	0.999999	P;P	0.44659	0.549;0.84	P;P	0.53809	0.676;0.735	T	0.46965	-0.9153	10	0.41790	T	0.15	.	15.5492	0.76133	0.1255:0.0:0.8745:0.0	.	464;165	Q59GH7;Q08945	.;SSRP1_HUMAN	L	165;68;68	ENSP00000278412:F165L;ENSP00000431154:F68L;ENSP00000434546:F68L	ENSP00000278412:F165L	F	-	3	2	SSRP1	56857051	1.000000	0.71417	0.999000	0.59377	0.379000	0.30106	4.484000	0.60271	0.464000	0.27142	-1.134000	0.01955	TTC	SSRP1	-	NULL		0.587	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	G	NM_003146		57100475	-1	no_errors	ENST00000278412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57100475	G	T	57100475	3	4	131	1	0	0	0	0	1	0	0	0	15224	933	33	3	1686	3	SSRP1	11	57100475	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	790295	57100475	77906041	1208	21348										
SMTNL1	219537	genome.wustl.edu	37	chr11	57313464	57313464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcccctgctcggccccgggGgccccgggcacagaaccgca	14	19	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:57313464G>A	ENST00000399154.2	+	5	917	c.917G>A	c.(916-918)gGg>gAg	p.G306E	SMTNL1_ENST00000457912.1_Missense_Mutation_p.G361E|SMTNL1_ENST00000527972.1_Missense_Mutation_p.G343E			A8MU46	SMTL1_HUMAN	smoothelin-like 1	306					negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CGGCCCCGGGGGCCCCGGGCA	0.667																																																	0													24	29	27					11																	57313464		1849	4092	5941	SO:0001583	missense	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.917G>A	11.37:g.57313464G>A	ENSP00000382108:p.Gly306Glu			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G361E	ENST00000399154.2	37	c.1082		11	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977903	0.34942	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02525	4.26;4.26;4.26	4.98	3.08	0.35506	.	0.000000	0.31809	U	0.007039	T	0.02380	0.0073	N	0.14661	0.345	0.19300	N	0.99997	P	0.51933	0.949	B	0.43155	0.41	T	0.48647	-0.9017	10	0.45353	T	0.12	-13.1788	11.0885	0.48102	0.0:0.0:0.5114:0.4886	.	361	C9J621	.	E	361;343;306	ENSP00000406485:G361E;ENSP00000432651:G343E;ENSP00000382108:G306E	ENSP00000382108:G306E	G	+	2	0	SMTNL1	57070040	0.915000	0.31059	0.560000	0.28344	0.091000	0.18340	1.516000	0.35856	0.672000	0.31204	0.655000	0.94253	GGG	SMTNL1	-	NULL		0.667	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		G	XM_166203		57313464	1	no_errors	ENST00000457912	ensembl	human	known	70_37	missense	SNP	0.287	A	A	57313464	G	A	57313464	3	1	131	1	0	0	0	0	1	0	0	0	14845	1232	43	4	1100	4	SMTNL1	11	57313464	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	212989	57313464	77693052	1209	21349										
CNTF	1270	genome.wustl.edu	37	chr11	58391931	58391931	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatgaccttcgtttcatttCttctcatcagactgggatcc	6	13	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:58391931C>A	ENST00000361987.4	+	2	619	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	180					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CGTTTCATTTCTTCTCATCAG	0.473																																																	0													97	100	99					11																	58391931		2201	4295	6496	SO:0001583	missense	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.539C>A	11.37:g.58391931C>A	ENSP00000355370:p.Ser180Tyr		B2RAB2	Missense_Mutation	SNP	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.S180Y	ENST00000361987.4	37	c.539	CCDS31554.1	11	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514819	0.64634	.	.	ENSG00000242689	ENST00000361987	T	0.42513	0.97	5.51	5.51	0.81932	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.59321	0.2185	M	0.69823	2.125	0.28047	N	0.933513	D	0.56287	0.975	P	0.59424	0.857	T	0.57388	-0.7820	9	0.72032	D	0.01	-4.952	11.957	0.52986	0.1733:0.8267:0.0:0.0	.	180	P26441	CNTF_HUMAN	Y	180	ENSP00000355370:S180Y	ENSP00000447778:S180Y	S	+	2	0	CNTF	58148507	0.714000	0.27936	0.878000	0.34440	0.958000	0.62258	1.795000	0.38784	2.594000	0.87642	0.650000	0.86243	TCT	CNTF	-	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core		0.473	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTF	HGNC	protein_coding	OTTHUMT00000268673.1	C	NM_000614		58391931	1	no_errors	ENST00000361987	ensembl	human	known	70_37	missense	SNP	0.575	A	A	58391931	C	A	58391931	3	1	131	1	0	0	0	0	1	0	0	0	3642	913	32	3	545	3	CNTF	11	58391931	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1078467	58391931	76614585	1210	21350										
GLYATL1	92292	genome.wustl.edu	37	chr11	58723127	58723127	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagctggatgtctcttattCtgggctggtaaatgacaact	10	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:58723127C>T	ENST00000317391.4	+	8	876	c.536C>T	c.(535-537)tCt>tTt	p.S179F	GLYATL1_ENST00000300079.5_Missense_Mutation_p.S210F|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	179						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GTCTCTTATTCTGGGCTGGTA	0.463																																																	0													69	68	68					11																	58723127		2201	4295	6496	SO:0001583	missense	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.536C>T	11.37:g.58723127C>T	ENSP00000322223:p.Ser179Phe		A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.S210F	ENST00000317391.4	37	c.629	CCDS55768.1	11	.	.	.	.	.	.	.	.	.	.	.	12.93	2.084886	0.36758	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.15718	2.4;2.4	2.77	1.83	0.25207	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	1.075590	0.07396	U	0.889952	T	0.26484	0.0647	L	0.40543	1.245	0.09310	N	1	D;D	0.54601	0.96;0.967	P;P	0.57846	0.736;0.828	T	0.19647	-1.0299	10	0.87932	D	0	.	6.628	0.22841	0.2841:0.7159:0.0:0.0	.	210;179	Q969I3-2;Q969I3	.;GLYL1_HUMAN	F	156;179;210	ENSP00000322223:S179F;ENSP00000300079:S210F	ENSP00000300079:S210F	S	+	2	0	GLYATL1	58479703	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.863000	0.27913	0.338000	0.23692	0.411000	0.27672	TCT	GLYATL1	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.463	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL1	HGNC	protein_coding	OTTHUMT00000393783.1	C	NM_080661		58723127	1	no_errors	ENST00000300079	ensembl	human	known	70_37	missense	SNP	0.001	T	T	58723127	C	T	58723127	3	4	131	1	0	0	0	0	1	0	0	0	6499	913	32	1	655	1	GLYATL1	11	58723127	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	331196	58723127	76283389	1211	21351										
DTX4	23220	genome.wustl.edu	37	chr11	58962710	58962710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgcagtgtccaacctgcaaGaccatttatggggtgaagac	11	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:58962710G>T	ENST00000227451.3	+	7	1508	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	DTX4_ENST00000532982.1_Missense_Mutation_p.K362N	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	468					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAACCTGCAAGACCATTTATG	0.537																																																	0													76	80	79					11																	58962710		2003	4220	6223	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1404G>T	11.37:g.58962710G>T	ENSP00000227451:p.Lys468Asn		Q0VF38	Missense_Mutation	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.K468N	ENST00000227451.3	37	c.1404	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899938	0.72754	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.45276	0.9;0.9	5.36	4.34	0.51931	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.82923	2.615	0.51767	D	0.999936	D	0.89917	1.0	D	0.87578	0.998	T	0.63247	-0.6680	10	0.51188	T	0.08	.	4.1918	0.10424	0.314:0.0:0.686:0.0	.	468	Q9Y2E6	DTX4_HUMAN	N	362;468	ENSP00000434055:K362N;ENSP00000227451:K468N	ENSP00000227451:K468N	K	+	3	2	DTX4	58719286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.307000	0.59123	2.506000	0.84524	0.655000	0.94253	AAG	DTX4	-	pfscan_Znf_RING		0.537	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1	G	XM_166213		58962710	1	no_errors	ENST00000227451	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58962710	G	T	58962710	3	4	131	1	0	0	0	0	1	0	0	0	4807	933	33	3	1430	3	DTX4	11	58962710	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	239583	58962710	76043806	1212	21352										
OR5AN1	390195	genome.wustl.edu	37	chr11	59132047	59132047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggtgatctacattacatCtctggcctggaacctctccc	7	15	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:59132047C>A	ENST00000313940.2	+	1	163	c.116C>A	c.(115-117)tCt>tAt	p.S39Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACATTACATCTCTGGCCTGG	0.408																																																	0													181	164	170					11																	59132047		2201	4295	6496	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.116C>A	11.37:g.59132047C>A	ENSP00000320302:p.Ser39Tyr		B9EIS2|Q6IEV4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S39Y	ENST00000313940.2	37	c.116	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317306	0.23908	.	.	ENSG00000176495	ENST00000313940	T	0.00321	8.11	4.12	0.895	0.19247	.	0.793295	0.10965	N	0.614499	T	0.00241	0.0007	L	0.57536	1.79	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.35748	-0.9776	10	0.87932	D	0	-2.7634	6.323	0.21229	0.0:0.3331:0.5094:0.1575	.	39	Q8NGI8	O5AN1_HUMAN	Y	39	ENSP00000320302:S39Y	ENSP00000320302:S39Y	S	+	2	0	OR5AN1	58888623	0.000000	0.05858	0.010000	0.14722	0.011000	0.07611	0.657000	0.24963	0.073000	0.16731	0.655000	0.94253	TCT	OR5AN1	-	prints_GPCR_Rhodpsn		0.408	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	C	NM_001004729		59132047	1	no_errors	ENST00000313940	ensembl	human	known	70_37	missense	SNP	0.001	A	A	59132047	C	A	59132047	3	1	131	1	0	0	0	0	1	0	0	0	11167	913	32	3	118	3	OR5AN1	11	59132047	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	169337	59132047	75874469	1213	21353										
STX3	6809	genome.wustl.edu	37	chr11	59562924	59562924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcacgagatgaaacgaaaaAagctgtgaaataccagagtc	11	7	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:59562924A>C	ENST00000337979.4	+	9	1302	c.755A>C	c.(754-756)aAa>aCa	p.K252T	STX3_ENST00000437946.2_Intron|STX3_ENST00000535361.1_Intron|STX3_ENST00000529177.1_Missense_Mutation_p.K252T|STX3_ENST00000300150.7_Missense_Mutation_p.K221T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	252	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAAACGAAAAAAGCTGTGAAA	0.473																																																	0													111	92	98					11																	59562924		2201	4295	6496	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.755A>C	11.37:g.59562924A>C	ENSP00000338562:p.Lys252Thr		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.K252T	ENST00000337979.4	37	c.755	CCDS7975.1	11	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714607	0.68730	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000529177;ENST00000530221	T;T;T;T	0.48522	1.61;1.31;0.81;1.68	5.72	-0.942	0.10398	Target SNARE coiled-coil domain (3);	0.203205	0.52532	D	0.000077	T	0.58250	0.2109	M	0.72118	2.19	0.80722	D	1	P;D	0.59767	0.545;0.986	P;D	0.72075	0.524;0.976	T	0.54282	-0.8317	10	0.54805	T	0.06	0.5225	5.7298	0.18032	0.5746:0.138:0.2873:0.0	.	252;252	B4DME0;Q13277	.;STX3_HUMAN	T	221;252;252;39	ENSP00000300150:K221T;ENSP00000338562:K252T;ENSP00000433248:K252T;ENSP00000434836:K39T	ENSP00000300150:K221T	K	+	2	0	STX3	59319500	0.995000	0.38212	0.522000	0.27862	0.997000	0.91878	1.086000	0.30853	-0.378000	0.07918	0.477000	0.44152	AAA	STX3	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.473	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	A	NM_004177		59562924	1	no_errors	ENST00000337979	ensembl	human	known	70_37	missense	SNP	0.998	C	C	59562924	A	C	59562924	3	2	131	1	0	0	0	0	1	0	0	0	15376	14	1	5	789	5	STX3	11	59562924	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	430877	59562924	75443592	1214	21354										
CD5	921	genome.wustl.edu	37	chr11	60885650	60885650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acctttctgacccccagattTccaggcaaggctcacccgtt	7	16	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:60885650T>C	ENST00000347785.3	+	3	264	c.98T>C	c.(97-99)tTc>tCc	p.F33S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	33					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCCAGATTTCCAGGCAAGG	0.642																																																	0													81	87	85					11																	60885650		2203	4299	6502	SO:0001583	missense	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.98T>C	11.37:g.60885650T>C	ENSP00000342681:p.Phe33Ser		A0N0P4|A8K9I3	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Tcell_CD5,prints_Srcr_rcpt	p.F33S	ENST00000347785.3	37	c.98	CCDS8000.1	11	.	.	.	.	.	.	.	.	.	.	T	8.598	0.886110	0.17540	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.28666	1.6;1.6	3.8	0.0291	0.14161	Speract/scavenger receptor-related (1);	1.662350	0.03535	N	0.222967	T	0.19248	0.0462	N	0.24115	0.695	0.09310	N	1	P	0.36330	0.548	B	0.34301	0.179	T	0.15150	-1.0447	10	0.16896	T	0.51	-2.2188	6.2919	0.21065	0.0:0.3269:0.0:0.6731	.	33	P06127	CD5_HUMAN	S	33	ENSP00000342681:F33S;ENSP00000440899:F33S	ENSP00000342681:F33S	F	+	2	0	CD5	60642226	0.000000	0.05858	0.002000	0.10522	0.144000	0.21451	-0.457000	0.06745	-0.007000	0.14345	0.459000	0.35465	TTC	CD5	-	superfamily_Srcr_rcpt-rel		0.642	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2	T	NM_014207		60885650	1	no_errors	ENST00000347785	ensembl	human	known	70_37	missense	SNP	0.002	C	C	60885650	T	C	60885650	3	2	131	1	0	0	0	0	1	0	0	0	3026	1783	62	5	108	5	CD5	11	60885650	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1322726	60885650	74120866	1215	21355										
AHNAK	79026	genome.wustl.edu	37	chr11	62289755	62289755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaacatccacatctggggcaTcaatgtccactttggggccc	10	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:62289755T>C	ENST00000378024.4	-	5	12408	c.12134A>G	c.(12133-12135)gAt>gGt	p.D4045G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4045					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTGGGGCATCAATGTCCAC	0.512																																																	0													185	196	192					11																	62289755		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12134A>G	11.37:g.62289755T>C	ENSP00000367263:p.Asp4045Gly		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D4045G	ENST00000378024.4	37	c.12134	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	3.162	-0.171956	0.06421	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.24	3.09	0.35607	.	0.552811	0.16666	N	0.204579	T	0.07143	0.0181	L	0.54323	1.7	0.27797	N	0.942626	B	0.33612	0.419	B	0.33690	0.168	T	0.15492	-1.0435	10	0.30078	T	0.28	.	8.1641	0.31215	0.0:0.1485:0.0:0.8515	.	4045	Q09666	AHNK_HUMAN	G	4045	ENSP00000367263:D4045G	ENSP00000367263:D4045G	D	-	2	0	AHNAK	62046331	0.838000	0.29461	0.233000	0.24025	0.027000	0.11550	1.829000	0.39121	1.559000	0.49555	0.148000	0.16107	GAT	AHNAK	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	T	NM_024060		62289755	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.649	C	C	62289755	T	C	62289755	3	2	131	1	0	0	0	0	1	0	0	0	414	1435	50	5	5658	5	AHNAK	11	62289755	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1404105	62289755	72716761	1216	21356										
TUT1	64852	genome.wustl.edu	37	chr11	62343112	62343112	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accatctctccaacctctatAaccatctcttctaccctgtc	1	18	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:62343112A>C	ENST00000476907.1	-	9	2770	c.2079T>G	c.(2077-2079)gtT>gtG	p.V693V	EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Silent_p.V731V|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	693					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAACCTCTATAACCATCTCTT	0.582																																																	0													374	356	362					11																	62343112		2202	4299	6501	SO:0001819	synonymous_variant	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2079T>G	11.37:g.62343112A>C			A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V731	ENST00000476907.1	37	c.2193		11																																																																																			TUT1	-	NULL		0.582	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	A	NM_022830		62343112	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	silent	SNP	0.000	C	C	62343112	A	C	62343112	2	2	131	1	0	0	0	0	0	0	0	1	16811	349	13	5		5	TUT1	11	62343112	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	53357	62343112	72663404	1217	21357										
SLC22A8	9376	genome.wustl.edu	37	chr11	62766483	62766483	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtaggccaggccgggcagaAtgaactggccaaaggtgtag	16	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:62766483A>C	ENST00000336232.2	-	5	806	c.671T>G	c.(670-672)aTt>aGt	p.I224S	SLC22A8_ENST00000430500.2_Missense_Mutation_p.I224S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.I133S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I224S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I101S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	224					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCCGGGCAGAATGAACTGGCC	0.582																																																	0													117	105	109					11																	62766483		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.671T>G	11.37:g.62766483A>C	ENSP00000337335:p.Ile224Ser		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.I224S	ENST00000336232.2	37	c.671	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120881	0.77436	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	4.88	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.514303	0.21370	N	0.075659	T	0.80347	0.4606	L	0.55834	1.745	0.44061	D	0.996808	P;P;P	0.49307	0.904;0.853;0.922	P;P;P	0.57720	0.733;0.826;0.826	T	0.82008	-0.0670	10	0.87932	D	0	.	12.4535	0.55691	1.0:0.0:0.0:0.0	.	224;224;224	Q8TCC7-2;Q8TCC7;B2R807	.;S22A8_HUMAN;.	S	224;210;133;101;224;224	ENSP00000337335:I224S;ENSP00000441658:I133S;ENSP00000443368:I101S;ENSP00000311463:I224S;ENSP00000398548:I224S	ENSP00000311463:I224S	I	-	2	0	SLC22A8	62523059	0.997000	0.39634	0.697000	0.30258	0.680000	0.39746	7.977000	0.88081	1.836000	0.53414	0.454000	0.30748	ATT	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	A	NM_004254		62766483	-1	no_errors	ENST00000336232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62766483	A	C	62766483	3	2	131	1	0	0	0	0	1	0	0	0	14490	101	4	5	985	5	SLC22A8	11	62766483	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	423371	62766483	72240033	1218	21358										
PLA2G16	11145	genome.wustl.edu	37	chr11	63342417	63342417	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacaggacagtctttttcagTtattgcttttgtcgcttgtt	9	7	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:63342417T>G	ENST00000323646.5	-	4	843	c.489A>C	c.(487-489)taA>taC	p.*163Y	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Nonstop_Mutation_p.*163Y	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	0					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TCTTTTTCAGTTATTGCTTTT	0.433																																																	0													98	95	96					11																	63342417		2201	4298	6499	SO:0001578	stop_lost	11145			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.489A>C	11.37:g.63342417T>G			B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Nonstop_Mutation	SNP	pfam_LRAT-like_dom	p.*163Y	ENST00000323646.5	37	c.489	CCDS8047.1	11	.	.	.	.	.	.	.	.	.	.	T	6.827	0.521726	0.13005	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	.	.	.	5.23	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7913	0.34852	0.1682:0.0:0.0:0.8318	.	.	.	.	Y	163	.	.	X	-	3	2	PLA2G16	63098993	0.654000	0.27367	0.148000	0.22405	0.018000	0.09664	1.667000	0.37471	1.057000	0.40506	-0.341000	0.08007	TAA	PLA2G16	-	NULL		0.433	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	HGNC	protein_coding	OTTHUMT00000396632.1	T	NM_001128203		63342417	-1	no_errors	ENST00000323646	ensembl	human	known	70_37	nonstop	SNP	0.503	G	G	63342417	T	G	63342417	4	3	131	1	0	0	0	0	0	0	0	0	12017	1732	60	5	3	5	PLA2G16	11	63342417	Nonstop_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	575934	63342417	71664099	1219	21359										
RTN3	10313	genome.wustl.edu	37	chr11	63488091	63488091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggttctgaaattaaagacaTtggaagcaaatacagtgaac	9	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:63488091T>G	ENST00000377819.5	+	3	2271	c.2117T>G	c.(2116-2118)aTt>aGt	p.I706S	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.I687S|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.I594S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	706					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATTAAAGACATTGGAAGCAAA	0.388																																																	0													54	55	55					11																	63488091		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2117T>G	11.37:g.63488091T>G	ENSP00000367050:p.Ile706Ser		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.I706S	ENST00000377819.5	37	c.2117	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	T	6.669	0.491923	0.12702	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22539	1.95;1.96;1.96	5.29	-6.71	0.01760	.	1.798860	0.03180	N	0.171882	T	0.10294	0.0252	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28636	0.218;0.139;0.218	B;B;B	0.25140	0.058;0.026;0.058	T	0.23691	-1.0181	10	0.08381	T	0.77	0.4941	6.6102	0.22747	0.2559:0.4916:0.0:0.2525	.	594;706;687	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	706;687;594	ENSP00000367050:I706S;ENSP00000344106:I687S;ENSP00000442733:I594S	ENSP00000344106:I687S	I	+	2	0	RTN3	63244667	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.338000	0.02655	-0.838000	0.04218	0.533000	0.62120	ATT	RTN3	-	NULL		0.388	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	T	NM_006054		63488091	1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	0.000	G	G	63488091	T	G	63488091	3	3	131	1	0	0	0	0	1	0	0	0	13757	1493	52	5	2127	5	RTN3	11	63488091	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	145674	63488091	71518425	1220	21360										
RPS6KA4	8986	genome.wustl.edu	37	chr11	64127764	64127764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagcacacgcgcaccgagcGctcggtgctggagctggtgc	16	13	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:64127764G>A	ENST00000334205.4	+	3	322	c.257G>A	c.(256-258)cGc>cAc	p.R86H	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R86H|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R86H	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	86	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCACCGAGCGCTCGGTGCTG	0.687																																																	0													12	10	11					11																	64127764		1998	3961	5959	SO:0001583	missense	8986			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.257G>A	11.37:g.64127764G>A	ENSP00000333896:p.Arg86His		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.R86H	ENST00000334205.4	37	c.257	CCDS8073.1	11	.	.	.	.	.	.	.	.	.	.	g	19.20	3.782337	0.70222	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.08	4.08	0.47627	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.74467	2.265	0.51482	D	0.999929	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.79784	0.826;0.993;0.993;0.988	T	0.56571	-0.7957	10	0.87932	D	0	.	14.5599	0.68128	0.0:0.0:1.0:0.0	.	86;86;86;86	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	H	86;86;86;70	ENSP00000435580:R86H;ENSP00000333896:R86H;ENSP00000294261:R86H;ENSP00000432945:R70H	ENSP00000294261:R86H	R	+	2	0	RPS6KA4	63884340	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	6.303000	0.72794	2.228000	0.72767	0.563000	0.77884	CGC	RPS6KA4	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.687	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2	G	NM_003942		64127764	1	no_errors	ENST00000334205	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64127764	G	A	64127764	3	1	131	1	0	0	0	0	1	0	0	0	13683	1087	38	2	267	2	RPS6KA4	11	64127764	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	639673	64127764	70878752	1221	21361										
SF1	7536	genome.wustl.edu	37	chr11	64536694	64536694	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctttaaactgatcacataCctgttatcgtcttcccgaag	5	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:64536694C>A	ENST00000377390.3	-	7	1117		c.e7+1		SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000227503.9_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGATCACATACCTGTTATCGT	0.453																																																	0													89	88	88					11																	64536694		2201	4297	6498	SO:0001630	splice_region_variant	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.779+1G>T	11.37:g.64536694C>A			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Splice_Site	SNP	-	e7+1	ENST00000377390.3	37	c.779+1	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464638	0.63513	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8105	0.88614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF1	64293270	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.544000	0.82117	2.809000	0.96659	0.557000	0.71058	.	SF1	-	-		0.453	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	C	NM_004630	Intron	64536694	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	64536694	C	A	64536694	5	1	131	1	0	0	0	0	0	0	1	0	14175	521	18	4	1305	4	SF1	11	64536694	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	408930	64536694	70469822	1222	21362										
PACS1	55690	genome.wustl.edu	37	chr11	65977848	65977848	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcagggttcaaaaagaattCttcgctccaacgagatcgtc	8	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:65977848C>A	ENST00000320580.4	+	3	493	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	154					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.L154I(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAAAAGAATTCTTCGCTCCAA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											133	118	123					11																	65977848		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.460C>A	11.37:g.65977848C>A	ENSP00000316454:p.Leu154Ile		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.L154I	ENST00000320580.4	37	c.460	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356807	0.82243	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.57907	0.37	5.28	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.80764	0.987;0.994	T	0.76063	-0.3096	10	0.87932	D	0	-10.7761	9.2592	0.37601	0.0:0.832:0.0:0.168	.	154;154	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	I	154;51;56	ENSP00000316454:L154I	ENSP00000316454:L154I	L	+	1	0	PACS1	65734424	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.896000	0.56266	1.228000	0.43614	0.585000	0.79938	CTT	PACS1	-	NULL		0.507	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	C	NM_018026		65977848	1	no_errors	ENST00000320580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65977848	C	A	65977848	3	1	131	1	0	0	0	0	1	0	0	0	11396	913	32	3	470	3	PACS1	11	65977848	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1441154	65977848	69028668	1223	21363										
NPAS4	266743	genome.wustl.edu	37	chr11	66191114	66191114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggccaagactggaggctggGcatggatttactgcctgtta	14	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:66191114G>A	ENST00000311034.2	+	6	1050	c.874G>A	c.(874-876)Gca>Aca	p.A292T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	292	PAC.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGAGGCTGGGCATGGATTTA	0.527																																																	0													94	85	88					11																	66191114		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.874G>A	11.37:g.66191114G>A	ENSP00000311196:p.Ala292Thr		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.A292T	ENST00000311034.2	37	c.874	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936122	0.34189	.	.	ENSG00000174576	ENST00000311034	T	0.16897	2.31	4.97	4.04	0.47022	PAS fold-3 (1);	0.246221	0.29059	N	0.013269	T	0.08313	0.0207	N	0.04508	-0.205	0.31055	N	0.714793	B	0.02656	0.0	B	0.04013	0.001	T	0.05241	-1.0897	10	0.51188	T	0.08	-2.7691	10.258	0.43410	0.0978:0.0:0.9022:0.0	.	292	Q8IUM7	NPAS4_HUMAN	T	292	ENSP00000311196:A292T	ENSP00000311196:A292T	A	+	1	0	NPAS4	65947690	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	1.200000	0.32247	1.279000	0.44446	0.561000	0.74099	GCA	NPAS4	-	pfam_PAS_fold_3		0.527	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66191114	1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66191114	G	A	66191114	3	1	131	1	0	0	0	0	1	0	0	0	10589	1203	42	4	896	4	NPAS4	11	66191114	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	213266	66191114	68815402	1224	21364										
AIP	9049	genome.wustl.edu	37	chr11	67250681	67250681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgggatccaaaaacgtgtgAtacaggaaggccgaggagag	15	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:67250681A>C	ENST00000279146.3	+	1	170	c.52A>C	c.(52-54)Ata>Cta	p.I18L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	18					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)	p.I18V(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAAACGTGTGATACAGGAAGG	0.607									Familial Isolated Pituitary Adenoma																																								1	Substitution - Missense(1)	large_intestine(1)											134	127	129					11																	67250681		2200	4295	6495	SO:0001583	missense	9049	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"aryl hydrocarbon receptor-interacting protein"			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.52A>C	11.37:g.67250681A>C	ENSP00000279146:p.Ile18Leu		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.I18L	ENST00000279146.3	37	c.52	CCDS8168.1	11	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366429	0.24771	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.90676	-2.71;-2.71;-2.71	5.69	1.88	0.25563	.	0.352800	0.30365	N	0.009781	T	0.71022	0.3291	N	0.04768	-0.165	0.49051	D	0.999743	B	0.06786	0.001	B	0.09377	0.004	T	0.62520	-0.6837	10	0.02654	T	1	-12.3057	3.5951	0.08003	0.5969:0.1971:0.206:0.0	.	18	O00170	AIP_HUMAN	L	18	ENSP00000434982:I18L;ENSP00000279146:I18L;ENSP00000434580:I18L	ENSP00000279146:I18L	I	+	1	0	AIP	67007257	0.958000	0.32768	1.000000	0.80357	0.575000	0.36095	0.885000	0.28227	0.989000	0.38761	-0.464000	0.05259	ATA	AIP	-	NULL		0.607	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIP	HGNC	protein_coding	OTTHUMT00000395516.1	A			67250681	1	no_errors	ENST00000279146	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67250681	A	C	67250681	3	2	131	1	0	0	0	0	1	0	0	0	435	333	12	5	54	5	AIP	11	67250681	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1059567	67250681	67755835	1225	21365										
ANO1	55107	genome.wustl.edu	37	chr11	69962588	69962588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actacaacggtgaaaacgtcGagttcaacgacagaaaagta	9	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:69962588G>A	ENST00000355303.5	+	8	1185	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ANO1_ENST00000531349.1_Missense_Mutation_p.E29K|ANO1_ENST00000538023.1_Missense_Mutation_p.E294K|ANO1_ENST00000530676.1_Missense_Mutation_p.E178K|ANO1_ENST00000398543.2_Missense_Mutation_p.E178K|ANO1_ENST00000316296.5_Missense_Mutation_p.E266K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	294					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGAAAACGTCGAGTTCAACGA	0.522																																																	0													56	54	54					11																	69962588		1965	4131	6096	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.880G>A	11.37:g.69962588G>A	ENSP00000347454:p.Glu294Lys		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.E294K	ENST00000355303.5	37	c.880	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849677	0.17034	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.22	4.43	4.43	0.53597	.	0.327734	0.28754	N	0.014258	T	0.53384	0.1793	L	0.39898	1.24	0.48395	D	0.999644	B;P;B	0.43578	0.033;0.811;0.355	B;B;B	0.34138	0.007;0.176;0.064	T	0.56517	-0.7966	9	.	.	.	.	14.5754	0.68243	0.0:0.0:1.0:0.0	.	29;266;294	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	K	294;294;178;78;266;178;29	ENSP00000347454:E294K;ENSP00000444689:E294K;ENSP00000381551:E178K;ENSP00000319477:E266K;ENSP00000435797:E178K;ENSP00000432843:E29K	.	E	+	1	0	ANO1	69640236	1.000000	0.71417	0.635000	0.29338	0.054000	0.15201	5.659000	0.68010	2.178000	0.69098	0.462000	0.41574	GAG	ANO1	-	NULL		0.522	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	G	NM_018043		69962588	1	no_errors	ENST00000355303	ensembl	human	known	70_37	missense	SNP	0.988	A	A	69962588	G	A	69962588	3	1	131	1	0	0	0	0	1	0	0	0	695	1059	37	1	910	1	ANO1	11	69962588	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2711907	69962588	65043928	1226	21366										
PPFIA1	8500	genome.wustl.edu	37	chr11	70194459	70194459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcccctccgggcagtgggcGctccaccccacgaaggatcc	11	19	0	0	rs149738073		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:70194459G>A	ENST00000253925.7	+	16	2311	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R699H	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	699					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCAGTGGGCGCTCCACCCCA	0.597													G|||	1	0.000199681	0	0	5008	,	,		14341	0.001		0	False		,,,				2504	0																0								G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	169	153	159		2096,2096	5.7	1	11	dbSNP_134	159	1,8587	1.2+/-3.3	0,1,4293	yes	missense,missense	PPFIA1	NM_003626.2,NM_177423.1	29,29	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	699/1203,699/1186	70194459	1,12987	2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2096G>A	11.37:g.70194459G>A	ENSP00000253925:p.Arg699His		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R699H	ENST00000253925.7	37	c.2096	CCDS31627.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.111639|2.111639	0.37242|0.37242	0.0|0.0	1.16E-4|1.16E-4	ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000253925;ENST00000389547;ENST00000544950	.|T;T	.|0.37584	.|1.19;1.19	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.065061	.|0.64402	.|D	.|0.000006	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.11673|0.11673	0.155|0.155	0.47094|0.47094	D|D	0.999313|0.999313	.|B;B	.|0.22746	.|0.025;0.074	.|B;B	.|0.19666	.|0.012;0.026	T|T	0.07046|0.07046	-1.0793|-1.0793	5|10	.|0.19590	.|T	.|0.45	.|.	19.717|19.717	0.96124|0.96124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|699;699	.|Q13136;Q13136-2	.|LIPA1_HUMAN;.	T|H	103|699;699;186	.|ENSP00000253925:R699H;ENSP00000374198:R699H	.|ENSP00000253925:R699H	A|R	+|+	1|2	0|0	PPFIA1|PPFIA1	69872107|69872107	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.881000|0.881000	0.50899|0.50899	4.252000|4.252000	0.58785|0.58785	2.661000|2.661000	0.90470|0.90470	0.655000|0.655000	0.94253|0.94253	GCT|CGC	PPFIA1	-	NULL		0.597	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70194459	1	no_errors	ENST00000253925	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70194459	G	A	70194459	3	1	131	1	0	0	0	0	1	0	0	0	12333	1087	38	2	2154	2	PPFIA1	11	70194459	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	231871	70194459	64812057	1227	21367										
ARAP1	116985	genome.wustl.edu	37	chr11	72408650	72408650	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccgtggctcacctccttcGctccaccagcaccagcacct	8	20	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:72408650G>A	ENST00000393609.3	-	20	2984	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R683*|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R928*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R622*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.R928*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R683*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R688*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	928					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACCTCCTTCGCTCCACCAGC	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)												0													105	93	97					11																	72408650		2200	4293	6493	SO:0001587	stop_gained	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2782C>T	11.37:g.72408650G>A	ENSP00000377233:p.Arg928*		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R928*	ENST00000393609.3	37	c.2782	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	G	45	11.951432	0.99621	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	.	.	.	4.93	2.89	0.33648	.	0.123108	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.0747	0.59081	0.0:0.0:0.6443:0.3557	.	.	.	.	X	928;928;688;683;928;683;622;216;216	.	ENSP00000335506:R683X	R	-	1	2	ARAP1	72086298	0.423000	0.25482	1.000000	0.80357	0.946000	0.59487	0.691000	0.25467	1.166000	0.42689	0.563000	0.77884	CGA	ARAP1	-	smart_Pleckstrin_homology		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72408650	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	72408650	G	A	72408650	4	1	131	1	0	0	0	0	0	1	0	0	838	1095	38	2	1634	2	ARAP1	11	72408650	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2214191	72408650	62597866	1228	21368										
ARRB1	408	genome.wustl.edu	37	chr11	74977311	74977311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagtcctcaaatacaatgtCgtcatcactggtgggagaga	10	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:74977311C>T	ENST00000420843.2	-	16	1250	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	ARRB1_ENST00000393505.4_Missense_Mutation_p.D385N|CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000360025.3_Missense_Mutation_p.D377N	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	385	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AATACAATGTCGTCATCACTG	0.527																																																	0													153	118	130					11																	74977311		2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1153G>A	11.37:g.74977311C>T	ENSP00000409581:p.Asp385Asn		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.D385N	ENST00000420843.2	37	c.1153	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587826	0.86851	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532447	T;T;T	0.13538	2.58;2.58;2.58	4.97	4.97	0.65823	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32466	0.0830	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.972;0.992	T	0.01416	-1.1360	10	0.29301	T	0.29	-19.0269	15.7228	0.77728	0.0:1.0:0.0:0.0	.	377;385	P49407-2;P49407	.;ARRB1_HUMAN	N	385;385;377;184	ENSP00000409581:D385N;ENSP00000377141:D385N;ENSP00000353124:D377N	ENSP00000353124:D377N	D	-	1	0	ARRB1	74654959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.080000	0.76837	2.314000	0.78098	0.563000	0.77884	GAC	ARRB1	-	superfamily_Ig_E-set,prints_Arrestin		0.527	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	C	NM_004041		74977311	-1	no_errors	ENST00000393505	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74977311	C	T	74977311	3	4	131	1	0	0	0	0	1	0	0	0	981	884	31	1	107	1	ARRB1	11	74977311	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2568661	74977311	60029205	1229	21369										
OMP	4975	genome.wustl.edu	37	chr11	76814000	76814000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaagcagcgcggggagaagCgccaggatggggagaagctg	20	7	0	3	rs201636126		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:76814000C>T	ENST00000529803.1	+	1	115	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	39					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CGGGGAGAAGCGCCAGGATGG	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		17629	0		0	False		,,,				2504	0																0								C	,CYS/ARG	6,4278		0,6,2136	38	49	45		,115	4.2	1	11		45	1,8485		0,1,4242	yes	intron,missense	CAPN5,OMP	NM_004055.4,NM_006189.1	,180	0,7,6378	TT,TC,CC		0.0118,0.1401,0.0548	,probably-damaging	,39/164	76814000	7,12763	2142	4243	6385	SO:0001583	missense	4975			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.115C>T	11.37:g.76814000C>T	ENSP00000436376:p.Arg39Cys		Q562G2	Missense_Mutation	SNP	pfam_Olfactory_marker,superfamily_Olfactory_marker	p.R39C	ENST00000529803.1	37	c.115	CCDS53682.1	11	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645113	0.67358	0.001401	1.18E-4	ENSG00000254550	ENST00000529803	T	0.34859	1.34	5.12	4.18	0.49190	.	.	.	.	.	T	0.38692	0.1050	L	0.27053	0.805	0.39260	D	0.964191	D	0.65815	0.995	P	0.54210	0.745	T	0.42899	-0.9424	9	0.72032	D	0.01	.	13.7472	0.62883	0.1598:0.8402:0.0:0.0	.	39	P47874	OMP_HUMAN	C	39	ENSP00000436376:R39C	ENSP00000436376:R39C	R	+	1	0	OMP	76491648	0.989000	0.36119	1.000000	0.80357	0.800000	0.45204	1.208000	0.32345	1.336000	0.45506	0.462000	0.41574	CGC	OMP	-	pfam_Olfactory_marker,superfamily_Olfactory_marker		0.662	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMP	HGNC	protein_coding	OTTHUMT00000382570.1	C	NM_006189		76814000	1	no_errors	ENST00000529803	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76814000	C	T	76814000	3	4	131	1	0	0	0	0	1	0	0	0	10891	768	27	2	117	2	OMP	11	76814000	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1836689	76814000	58192516	1230	21370										
DLG2	1740	genome.wustl.edu	37	chr11	83874521	83874521	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccctctccagtgtaatttCttcaaattcatattcaattt	2	10	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:83874521C>A	ENST00000532653.1	-	4	594	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	DLG2_ENST00000531015.1_Nonsense_Mutation_p.E65*|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Nonsense_Mutation_p.E37*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.E47*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.E137*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.E203*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.E203*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.E98*|DLG2_ENST00000398309.2_Nonsense_Mutation_p.E98*|DLG2_ENST00000398301.2_Nonsense_Mutation_p.E137*			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTGTAATTTCTTCAAATTCA	0.318																																																	0													87	83	85					11																	83874521		1787	4061	5848	SO:0001587	stop_gained	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.292G>T	11.37:g.83874521C>A	ENSP00000435849:p.Glu98*		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E203*	ENST00000532653.1	37	c.607		11	.	.	.	.	.	.	.	.	.	.	C	36	5.955492	0.97145	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1585	0.65432	0.0:1.0:0.0:0.0	.	.	.	.	X	98;203;47;203;137;37;98;98;203;65;137;15	.	.	E	-	1	0	DLG2	83552169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.674000	0.61612	2.696000	0.92011	0.655000	0.94253	GAA	DLG2	-	pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.318	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	C	NM_001364		83874521	-1	no_errors	ENST00000376104	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	83874521	C	A	83874521	4	1	131	1	0	0	0	0	0	1	0	0	4565	922	32	3	2450	3	DLG2	11	83874521	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7060521	83874521	51131995	1231	21371										
TMEM126A	84233	genome.wustl.edu	37	chr11	85361308	85361308	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaaggctcaaaatggaaaaTcataaatccaataataagga	6	5	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:85361308T>G	ENST00000304511.2	+	2	118	c.9T>G	c.(7-9)aaT>aaG	p.N3K	TMEM126A_ENST00000532180.1_Intron|TMEM126A_ENST00000528105.1_Intron	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	3					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAATGGAAAATCATAAATCCA	0.264																																																	0													31	32	31					11																	85361308		2200	4289	6489	SO:0001583	missense	84233				CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.9T>G	11.37:g.85361308T>G	ENSP00000306887:p.Asn3Lys		B2R570|E9PI16	Missense_Mutation	SNP	pfam_DUF1370_TMEM126	p.N3K	ENST00000304511.2	37	c.9	CCDS8268.1	11	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186107	0.38609	.	.	ENSG00000171202	ENST00000304511	T	0.31510	1.49	4.57	4.57	0.56435	.	0.809764	0.11475	N	0.560291	T	0.19248	0.0462	L	0.27053	0.805	0.80722	D	1	P	0.37781	0.608	B	0.30029	0.11	T	0.03969	-1.0988	9	.	.	.	-5.6619	10.628	0.45519	0.0:0.0:0.0:1.0	.	3	Q9H061	T126A_HUMAN	K	3	ENSP00000306887:N3K	.	N	+	3	2	TMEM126A	85038956	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	0.593000	0.23999	2.281000	0.76405	0.528000	0.53228	AAT	TMEM126A	-	NULL		0.264	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM126A	HGNC	protein_coding	OTTHUMT00000392177.1	T	NM_032273		85361308	1	no_errors	ENST00000304511	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85361308	T	G	85361308	3	3	131	1	0	0	0	0	1	0	0	0	16068	1432	50	5	11	5	TMEM126A	11	85361308	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1486787	85361308	49645208	1232	21372										
CCDC83	220047	genome.wustl.edu	37	chr11	85627172	85627172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttagtcatgaaaatagcatcGaagatctccagtatgtgaag	9	6	2	3	rs368704693		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:85627172G>A	ENST00000342404.3	+	10	1192	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CCDC83_ENST00000280245.4_Missense_Mutation_p.E357K|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.E226K			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	326										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAATAGCATCGAAGATCTCCA	0.388																																																	0								G	LYS/GLU	0,4406		0,0,2203	130	132	131		1069	-4.2	0	11		131	1,8597	1.2+/-3.3	0,1,4298	no	missense	CCDC83	NM_173556.3	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	357/445	85627172	1,13003	2203	4299	6502	SO:0001583	missense	220047			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.976G>A	11.37:g.85627172G>A	ENSP00000344512:p.Glu326Lys		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	NULL	p.E357K	ENST00000342404.3	37	c.1069		11	.	.	.	.	.	.	.	.	.	.	G	4.115	0.019566	0.08006	0.0	1.16E-4	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.44482	0.92;0.92;0.92	5.17	-4.15	0.03881	.	1.673800	0.02687	N	0.110276	T	0.27933	0.0688	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.12604	-1.0541	9	.	.	.	0.474	6.3832	0.21546	0.2493:0.37:0.3807:0.0	.	226;326;357	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	K	357;226;326	ENSP00000280245:E357K;ENSP00000365235:E226K;ENSP00000344512:E326K	.	E	+	1	0	CCDC83	85304820	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.816000	0.04477	-0.510000	0.06523	-0.423000	0.05987	GAA	CCDC83	-	NULL		0.388	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	G	NM_173556		85627172	1	no_errors	ENST00000280245	ensembl	human	known	70_37	missense	SNP	0.000	A	A	85627172	G	A	85627172	3	1	131	1	0	0	0	0	1	0	0	0	2862	1059	37	1	1107	1	CCDC83	11	85627172	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	265864	85627172	49379344	1233	21373										
CCDC81	60494	genome.wustl.edu	37	chr11	86123534	86123534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatggataacagacaggaaAacgaaataaagcaaagacaa	8	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:86123534A>C	ENST00000445632.2	+	11	1596	c.1324A>C	c.(1324-1326)Aac>Cac	p.N442H	CCDC81_ENST00000528728.1_Missense_Mutation_p.N177H|CCDC81_ENST00000278487.3_Missense_Mutation_p.N177H|CCDC81_ENST00000354755.1_Missense_Mutation_p.N352H	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	442										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAGACAGGAAAACGAAATAAA	0.458																																																	0													123	113	116					11																	86123534		2202	4299	6501	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1324A>C	11.37:g.86123534A>C	ENSP00000415528:p.Asn442His		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd	p.N442H	ENST00000445632.2	37	c.1324	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	A	11.65	1.703262	0.30232	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.51	4.35	0.52113	.	0.307696	0.31061	N	0.008323	T	0.28797	0.0714	N	0.22421	0.69	0.23524	N	0.997499	P;B;P	0.38711	0.643;0.002;0.643	B;B;B	0.38056	0.264;0.005;0.264	T	0.08086	-1.0739	9	.	.	.	-14.0703	11.5718	0.50839	0.8501:0.1499:0.0:0.0	.	177;442;352	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	H	352;177;442;177	ENSP00000346800:N352H;ENSP00000278487:N177H;ENSP00000415528:N442H;ENSP00000437165:N177H	.	N	+	1	0	CCDC81	85801182	1.000000	0.71417	0.893000	0.35052	0.171000	0.22731	5.373000	0.66162	0.881000	0.35993	0.533000	0.62120	AAC	CCDC81	-	NULL		0.458	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	A	NM_021827		86123534	1	no_errors	ENST00000445632	ensembl	human	known	70_37	missense	SNP	0.960	C	C	86123534	A	C	86123534	3	2	131	1	0	0	0	0	1	0	0	0	2860	14	1	5	1366	5	CCDC81	11	86123534	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	496362	86123534	48882982	1234	21374										
GRM5	2915	genome.wustl.edu	37	chr11	88241884	88241884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtgctccccgagtccaccGagtctctgaagggggacggc	14	13	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:88241884G>A	ENST00000305447.4	-	9	3664	c.3515C>T	c.(3514-3516)tCg>tTg	p.S1172L	GRM5_ENST00000393297.1_Missense_Mutation_p.S902L|GRM5_ENST00000305432.5_Missense_Mutation_p.S1140L|GRM5_ENST00000418177.2_Missense_Mutation_p.S1172L|GRM5_ENST00000455756.2_Missense_Mutation_p.S1140L|GRM5-AS1_ENST00000526448.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1172					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CGAGTCCACCGAGTCTCTGAA	0.657																																																	0													14	16	15					11																	88241884		2190	4294	6484	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3515C>T	11.37:g.88241884G>A	ENSP00000306138:p.Ser1172Leu		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.S1172L	ENST00000305447.4	37	c.3515	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177014	0.78564	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.92595	-3.07;-3.03;-3.03;-3.07;-2.72	4.88	4.88	0.63580	Metabotropic glutamate receptor, Homer-binding domain (1);	0.000000	0.64402	D	0.000003	D	0.94545	0.8243	L	0.59436	1.845	0.43994	D	0.996692	D;D	0.63880	0.962;0.993	B;P	0.62740	0.324;0.906	D	0.94023	0.7294	9	.	.	.	.	18.1036	0.89513	0.0:0.0:1.0:0.0	.	1140;1172	P41594-2;P41594	.;GRM5_HUMAN	L	1172;1140;1140;1172;902	ENSP00000402912:S1172L;ENSP00000405690:S1140L;ENSP00000305905:S1140L;ENSP00000306138:S1172L;ENSP00000376975:S902L	.	S	-	2	0	GRM5	87881532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.195000	0.72088	2.248000	0.74166	0.551000	0.68910	TCG	GRM5	-	pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1		0.657	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	G	NM_000842		88241884	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88241884	G	A	88241884	3	1	131	1	0	0	0	0	1	0	0	0	6820	1059	37	1	127	1	GRM5	11	88241884	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2118350	88241884	46764632	1235	21375										
FAT3	120114	genome.wustl.edu	37	chr11	92539659	92539659	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatggatctggaaacagtgaAttttttctagatccagaaag	9	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:92539659A>C	ENST00000298047.6	+	11	9242	c.9225A>C	c.(9223-9225)gaA>gaC	p.E3075D	FAT3_ENST00000409404.2_Missense_Mutation_p.E3075D|FAT3_ENST00000525166.1_Missense_Mutation_p.E2925D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3075	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAACAGTGAATTTTTTCTAG	0.323										TCGA Ovarian(4;0.039)																																							0													43	41	42					11																	92539659		1803	4052	5855	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9225A>C	11.37:g.92539659A>C	ENSP00000298047:p.Glu3075Asp		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E3075D	ENST00000298047.6	37	c.9225		11	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698214	0.30142	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02552	4.25;4.25;4.25	5.84	2.13	0.27403	.	.	.	.	.	T	0.01222	0.0040	N	0.02775	-0.495	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51513	-0.8696	9	0.10902	T	0.67	.	6.4431	0.21861	0.4746:0.3897:0.1357:0.0	.	3075	Q8TDW7-3	.	D	3075;3075;2925	ENSP00000298047:E3075D;ENSP00000387040:E3075D;ENSP00000432586:E2925D	ENSP00000298047:E3075D	E	+	3	2	FAT3	92179307	0.997000	0.39634	0.999000	0.59377	0.992000	0.81027	0.601000	0.24119	0.106000	0.17784	0.533000	0.62120	GAA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.323	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		A	NM_001008781		92539659	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	0.996	C	C	92539659	A	C	92539659	3	2	131	1	0	0	0	0	1	0	0	0	5709	98	4	5	9267	5	FAT3	11	92539659	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	4297775	92539659	42466857	1236	21376										
GPR83	10888	genome.wustl.edu	37	chr11	94129687	94129687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatgtgctgttcacaaagcGaacctggagatgagcccaaa	10	11	1	2	rs147783996		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:94129687G>A	ENST00000243673.2	-	2	562	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	131					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCACAAAGCGAACCTGGAGA	0.537																																																	0								G	CYS/ARG	0,4402		0,0,2201	123	98	106		391	5.4	1	11	dbSNP_134	106	1,8595	1.2+/-3.3	0,1,4297	no	missense	GPR83	NM_016540.3	180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	131/424	94129687	1,12997	2201	4298	6499	SO:0001583	missense	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.391C>T	11.37:g.94129687G>A	ENSP00000243673:p.Arg131Cys		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R131C	ENST00000243673.2	37	c.391	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.068124	0.93950	0.0	1.16E-4	ENSG00000123901	ENST00000243673	T	0.37915	1.17	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58317	-0.7657	10	0.40728	T	0.16	.	18.245	0.89982	0.0:0.0:1.0:0.0	.	131	Q9NYM4	GPR83_HUMAN	C	131	ENSP00000243673:R131C	ENSP00000243673:R131C	R	-	1	0	GPR83	93769335	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.273000	0.95719	2.554000	0.86153	0.555000	0.69702	CGC	GPR83	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.537	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	G	NM_016540		94129687	-1	no_errors	ENST00000243673	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94129687	G	A	94129687	3	1	131	1	0	0	0	0	1	0	0	0	6732	1058	37	1	892	1	GPR83	11	94129687	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1590028	94129687	40876829	1237	21377										
PGR	5241	genome.wustl.edu	37	chr11	100909965	100909965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagtgcccgggactggataAatgtattcaagcagtacaga	11	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:100909965A>C	ENST00000325455.5	-	8	4137	c.2684T>G	c.(2683-2685)tTt>tGt	p.F895C	PGR_ENST00000263463.5_Missense_Mutation_p.F793C|PGR_ENST00000534013.1_Missense_Mutation_p.F301C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	895	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGACTGGATAAATGTATTCAA	0.358																																					Pancreas(124;2271 2354 21954 22882)												0													88	87	87					11																	100909965		2203	4299	6502	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2684T>G	11.37:g.100909965A>C	ENSP00000325120:p.Phe895Cys		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.F895C	ENST00000325455.5	37	c.2684	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137264	0.77775	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.99762	1.25;1.25;-6.67	5.74	5.74	0.90152	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	M	0.87971	2.92	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.97047	0.9761	10	0.87932	D	0	.	16.043	0.80698	1.0:0.0:0.0:0.0	.	793;895;276	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	895;301;793	ENSP00000325120:F895C;ENSP00000436561:F301C;ENSP00000263463:F793C	ENSP00000263463:F793C	F	-	2	0	PGR	100415175	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.853000	0.75435	2.187000	0.69744	0.477000	0.44152	TTT	PGR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.358	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	A			100909965	-1	no_errors	ENST00000325455	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100909965	A	C	100909965	3	2	131	1	0	0	0	0	1	0	0	0	11829	14	1	5	121	5	PGR	11	100909965	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	6780278	100909965	34096551	1238	21378										
TRPC6	7225	genome.wustl.edu	37	chr11	101323781	101323781	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctgtattctgagatttttCttcaaggagttcatagcgga	9	6	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:101323781C>A	ENST00000344327.3	-	13	3125	c.2701G>T	c.(2701-2703)Gaa>Taa	p.E901*	TRPC6_ENST00000348423.4_Nonsense_Mutation_p.E785*|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.E823*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.E846*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	901					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGAGATTTTTCTTCAAGGAGT	0.373																																					Colon(166;1315 1927 11094 12848 34731)												0													165	161	163					11																	101323781		2203	4300	6503	SO:0001587	stop_gained	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2701G>T	11.37:g.101323781C>A	ENSP00000340913:p.Glu901*		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.E901*	ENST00000344327.3	37	c.2701	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.421323	0.98272	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	.	.	.	5.65	5.65	0.86999	.	0.282320	0.41097	D	0.000944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-17.2591	19.7968	0.96490	0.0:1.0:0.0:0.0	.	.	.	.	X	901;823;785;846	.	ENSP00000340913:E901X	E	-	1	0	TRPC6	100828991	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.720000	0.61944	2.679000	0.91253	0.650000	0.86243	GAA	TRPC6	-	NULL		0.373	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	C	NM_004621		101323781	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	101323781	C	A	101323781	4	1	131	1	0	0	0	0	0	1	0	0	16614	922	32	3	98	3	TRPC6	11	101323781	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	413816	101323781	33682735	1239	21379										
TRPC6	7225	genome.wustl.edu	37	chr11	101342954	101342954	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacattatagactccataaaGaacgtaaccaatgttttcaa	4	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:101342954G>T	ENST00000344327.3	-	8	2543	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I	TRPC6_ENST00000348423.4_Missense_Mutation_p.L591I|TRPC6_ENST00000532133.1_Missense_Mutation_p.L629I|TRPC6_ENST00000360497.4_Missense_Mutation_p.L652I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	707					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACTCCATAAAGAACGTAACCA	0.333																																					Colon(166;1315 1927 11094 12848 34731)												0													89	90	90					11																	101342954		2203	4298	6501	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2119C>A	11.37:g.101342954G>T	ENSP00000340913:p.Leu707Ile		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.L707I	ENST00000344327.3	37	c.2119	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575058	0.86542	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.67517	2.055	0.80722	D	1	D;D;D	0.63880	0.991;0.991;0.993	D;D;D	0.71184	0.967;0.935;0.972	D	0.98686	1.0694	10	0.37606	T	0.19	-3.0827	20.0784	0.97758	0.0:0.0:1.0:0.0	.	652;591;707	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	I	707;629;591;652	ENSP00000340913:L707I;ENSP00000435574:L629I;ENSP00000343672:L591I;ENSP00000353687:L652I	ENSP00000340913:L707I	L	-	1	0	TRPC6	100848164	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.034000	0.88864	2.736000	0.93811	0.655000	0.94253	CTT	TRPC6	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.333	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	G	NM_004621		101342954	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101342954	G	T	101342954	3	4	131	1	0	0	0	0	1	0	0	0	16614	942	33	3	700	3	TRPC6	11	101342954	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	19173	101342954	33663562	1240	21380										
BIRC2	329	genome.wustl.edu	37	chr11	102220627	102220627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agacttttcccaggtccctcGtatcaaaacattaagagtat	6	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102220627G>A	ENST00000227758.2	+	2	1441	c.42G>A	c.(40-42)tcG>tcA	p.S14S	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Intron|BIRC2_ENST00000532672.1_5'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	14					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CAGGTCCCTCGTATCAAAACA	0.373																																																	0													105	103	104					11																	102220627		2203	4299	6502	SO:0001819	synonymous_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.42G>A	11.37:g.102220627G>A			B4E026|Q16516|Q4TTG0	Silent	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.S14	ENST00000227758.2	37	c.42	CCDS8316.1	11																																																																																			BIRC2	-	NULL		0.373	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	G	NM_001166		102220627	1	no_errors	ENST00000227758	ensembl	human	known	70_37	silent	SNP	0.000	A	A	102220627	G	A	102220627	2	1	131	1	0	0	0	0	0	0	0	1	1436	1132	40	2		2	BIRC2	11	102220627	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	877673	102220627	32785889	1241	21381										
MMP7	4316	genome.wustl.edu	37	chr11	102398628	102398628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagttataggtaggccaaaGaatttttgcatctccttgag	9	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102398628G>T	ENST00000260227.4	-	2	247	c.195C>A	c.(193-195)ttC>ttA	p.F65L		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	65					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GTAGGCCAAAGAATTTTTGCA	0.383																																																	0													82	91	88					11																	102398628		2203	4299	6502	SO:0001583	missense	4316			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.195C>A	11.37:g.102398628G>T	ENSP00000260227:p.Phe65Leu		Q9BTK9	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.F65L	ENST00000260227.4	37	c.195	CCDS8317.1	11	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607702	0.66558	.	.	ENSG00000137673	ENST00000260227	T	0.38887	1.11	5.39	4.48	0.54585	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.56097	D	0.000022	T	0.67316	0.2880	M	0.90650	3.135	0.36295	D	0.856677	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.998;0.982;0.992	T	0.76688	-0.2867	10	0.66056	D	0.02	9.5336	8.9734	0.35921	0.2139:0.0:0.7861:0.0	.	65;65;65	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	L	65	ENSP00000260227:F65L	ENSP00000260227:F65L	F	-	3	2	MMP7	101903838	1.000000	0.71417	0.997000	0.53966	0.773000	0.43773	1.067000	0.30616	1.283000	0.44513	0.563000	0.77884	TTC	MMP7	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.383	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP7	HGNC	protein_coding	OTTHUMT00000109633.2	G			102398628	-1	no_errors	ENST00000260227	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102398628	G	T	102398628	3	4	131	1	0	0	0	0	1	0	0	0	9690	933	33	3	628	3	MMP7	11	102398628	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	178001	102398628	32607888	1242	21382										
MMP10	4319	genome.wustl.edu	37	chr11	102649479	102649479	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagagtaaaagtctccatgTtctgatagggaacaaattaa	8	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102649479T>C	ENST00000279441.4	-	4	534	c.498A>G	c.(496-498)gaA>gaG	p.E166E		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	166					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AGTCTCCATGTTCTGATAGGG	0.388																																																	0													76	74	75					11																	102649479		2203	4299	6502	SO:0001630	splice_region_variant	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.497-1A>G	11.37:g.102649479T>C			B2R9X9|Q53HH9	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.E166	ENST00000279441.4	37	c.498	CCDS8321.1	11																																																																																			MMP10	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin		0.388	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	T		Silent	102649479	-1	no_errors	ENST00000279441	ensembl	human	known	70_37	silent	SNP	0.984	C	C	102649479	T	C	102649479	5	2	131	1	0	0	0	0	0	0	1	0	9672	1739	60	5	960	5	MMP10	11	102649479	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	250851	102649479	32357037	1243	21383										
DYNC2H1	79659	genome.wustl.edu	37	chr11	102993571	102993571	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaggtagatgatactatcaaGattgcagaggctcttttatc	9	6	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102993571G>T	ENST00000375735.2	+	11	1647	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K501N|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.K501N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	501	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATACTATCAAGATTGCAGAGG	0.353																																																	0													85	77	80					11																	102993571		1823	4075	5898	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1503G>T	11.37:g.102993571G>T	ENSP00000364887:p.Lys501Asn		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K501N	ENST00000375735.2	37	c.1503	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023599	0.54683	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.59083	0.29;0.29;0.29	5.23	4.33	0.51752	Dynein heavy chain, domain-1 (1);	0.000000	0.47093	U	0.000251	T	0.65954	0.2741	L	0.41824	1.3	0.44388	D	0.997293	D;P;P	0.71674	0.998;0.627;0.551	D;B;B	0.66351	0.943;0.348;0.32	T	0.67703	-0.5602	10	0.52906	T	0.07	.	14.1573	0.65426	0.0727:0.0:0.9273:0.0	.	501;501;501	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	N	501	ENSP00000364887:K501N;ENSP00000334021:K501N;ENSP00000381167:K501N	ENSP00000334021:K501N	K	+	3	2	DYNC2H1	102498781	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.875000	0.56108	1.347000	0.45714	0.650000	0.86243	AAG	DYNC2H1	-	pfam_Dynein_heavy_dom-1		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		102993571	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102993571	G	T	102993571	3	4	131	1	0	0	0	0	1	0	0	0	4856	933	33	3	1545	3	DYNC2H1	11	102993571	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	344092	102993571	32012945	1244	21384										
ACAT1	38	genome.wustl.edu	37	chr11	108016992	108016992	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggaagtaaatgaagcctttAgtctggttgtactagcaaac	11	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:108016992A>T	ENST00000265838.4	+	11	1160	c.1069A>T	c.(1069-1071)Agt>Tgt	p.S357C		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	357					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGAAGCCTTTAGTCTGGTTGT	0.343																																																	0													143	165	157					11																	108016992		2201	4298	6499	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1069A>T	11.37:g.108016992A>T	ENSP00000265838:p.Ser357Cys		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.S357C	ENST00000265838.4	37	c.1069	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796766	0.90453	.	.	ENSG00000075239	ENST00000265838	D	0.93659	-3.26	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96846	0.8970	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97417	1.0006	10	0.87932	D	0	-4.1885	16.2644	0.82568	1.0:0.0:0.0:0.0	.	357	P24752	THIL_HUMAN	C	357	ENSP00000265838:S357C	ENSP00000265838:S357C	S	+	1	0	ACAT1	107522202	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	9.056000	0.93881	2.244000	0.73946	0.528000	0.53228	AGT	ACAT1	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1	A	NM_000019		108016992	1	no_errors	ENST00000265838	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108016992	A	T	108016992	3	4	131	1	0	0	0	0	1	0	0	0	121	420	15	5	1111	5	ACAT1	11	108016992	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	5023421	108016992	26989524	1245	21385										
ATM	472	genome.wustl.edu	37	chr11	108129735	108129735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtccaaataagattgcatCtggctttttcctgcgattgt	9	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:108129735C>T	ENST00000452508.2	+	17	2588	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	ATM_ENST00000278616.4_Missense_Mutation_p.S800F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	800					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGATTGCATCTGGCTTTTTC	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													129	123	125					11																	108129735		2200	4298	6498	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2399C>T	11.37:g.108129735C>T	ENSP00000388058:p.Ser800Phe		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S800F	ENST00000452508.2	37	c.2399	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704176	0.68615	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75154	-0.91;-0.91;-0.91	5.8	5.8	0.92144	Armadillo-type fold (1);	0.172575	0.53938	D	0.000058	D	0.83663	0.5303	M	0.67953	2.075	0.42414	D	0.99261	D	0.63880	0.993	P	0.57548	0.823	D	0.84739	0.0750	10	0.72032	D	0.01	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	800	Q13315	ATM_HUMAN	F	800	ENSP00000435747:S800F;ENSP00000278616:S800F;ENSP00000388058:S800F	ENSP00000278616:S800F	S	+	2	0	ATM	107634945	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	5.335000	0.65929	2.744000	0.94065	0.655000	0.94253	TCT	ATM	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108129735	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108129735	C	T	108129735	3	4	131	1	0	0	0	0	1	0	0	0	1110	913	32	1	2457	1	ATM	11	108129735	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	112743	108129735	26876781	1246	21386										
RDX	5962	genome.wustl.edu	37	chr11	110124692	110124692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttccaactgcttctgatgtTtctcctccctagcctgagcc	6	15	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:110124692T>G	ENST00000343115.4	-	9	1257	c.938A>C	c.(937-939)aAa>aCa	p.K313T	RDX_ENST00000405097.1_Missense_Mutation_p.K313T|RDX_ENST00000528498.1_Missense_Mutation_p.K313T|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.K177T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	313	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTCTGATGTTTCTCCTCCCT	0.383																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													122	107	112					11																	110124692		2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.938A>C	11.37:g.110124692T>G	ENSP00000342830:p.Lys313Thr		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.K313T	ENST00000343115.4	37	c.938	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	T	32	5.161299	0.94727	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.90922	3.16	0.80722	D	1	P;D;D	0.76494	0.945;0.999;0.965	D;D;P	0.91635	0.945;0.999;0.843	T	0.73997	-0.3806	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	177;313;313	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	T	313;313;313;313;177	ENSP00000432112:K313T;ENSP00000384136:K313T;ENSP00000342830:K313T;ENSP00000445826:K177T	ENSP00000342830:K313T	K	-	2	0	RDX	109629902	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	AAA	RDX	-	pirsf_ERM		0.383	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	T	NM_002906		110124692	-1	no_errors	ENST00000530749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110124692	T	G	110124692	3	3	131	1	0	0	0	0	1	0	0	0	13228	1841	64	5	837	5	RDX	11	110124692	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1994957	110124692	24881824	1247	21387										
ARHGAP20	57569	genome.wustl.edu	37	chr11	110451001	110451001	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgcccctccatttgcaaaGacttatgccgtttgagataa	7	11	1	2	rs371299206		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:110451001G>T	ENST00000260283.4	-	16	2953	c.2669C>A	c.(2668-2670)tCt>tAt	p.S890Y	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S433Y|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S854Y|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S864Y|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S854Y|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S867Y|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S864Y	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	890					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CATTTGCAAAGACTTATGCCG	0.433																																																	0													158	156	156					11																	110451001		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2669C>A	11.37:g.110451001G>T	ENSP00000260283:p.Ser890Tyr		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.S890Y	ENST00000260283.4	37	c.2669	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072231	0.55646	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10477	2.87;2.87;2.91;2.87;2.88;2.87;2.88	5.67	4.75	0.60458	.	0.380726	0.24544	N	0.037616	T	0.29914	0.0748	M	0.65975	2.015	0.27792	N	0.942789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.07158	-1.0787	10	0.87932	D	0	.	11.6644	0.51366	0.0:0.1341:0.7263:0.1396	.	864;890;867	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	Y	890;864;433;867;854;864;854	ENSP00000260283:S890Y;ENSP00000349660:S864Y;ENSP00000437905:S433Y;ENSP00000432076:S867Y;ENSP00000436319:S854Y;ENSP00000436522:S864Y;ENSP00000431399:S854Y	ENSP00000260283:S890Y	S	-	2	0	ARHGAP20	109956211	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.398000	0.52579	1.392000	0.46585	-0.165000	0.13383	TCT	ARHGAP20	-	NULL		0.433	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	G	NM_020809		110451001	-1	no_errors	ENST00000260283	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110451001	G	T	110451001	3	4	131	1	0	0	0	0	1	0	0	0	870	942	33	3	910	3	ARHGAP20	11	110451001	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	326309	110451001	24555515	1248	21388										
DLAT	1737	genome.wustl.edu	37	chr11	111916683	111916683	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagttttgttggtacggaaaGaacttaataaggtaaaagtt	10	2	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:111916683G>T	ENST00000280346.6	+	10	2046	c.1387G>T	c.(1387-1389)Gaa>Taa	p.E463*	DLAT_ENST00000393051.1_Nonsense_Mutation_p.E358*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.E234*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	463	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GGTACGGAAAGAACTTAATAA	0.303																																																	0													61	56	58					11																	111916683		2200	4295	6495	SO:0001587	stop_gained	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1387G>T	11.37:g.111916683G>T	ENSP00000280346:p.Glu463*		Q16783|Q53EP3	Nonsense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.E463*	ENST00000280346.6	37	c.1387	CCDS8354.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.508386	0.97624	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	4.86	0.63082	.	0.099482	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.0734	16.9803	0.86325	0.0:0.1274:0.8726:0.0	.	.	.	.	X	463;358;295;234	.	ENSP00000280346:E463X	E	+	1	0	DLAT	111421893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	1.436000	0.47453	0.655000	0.94253	GAA	DLAT	-	pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L		0.303	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	G	NM_001931		111916683	1	no_errors	ENST00000280346	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	111916683	G	T	111916683	4	4	131	1	0	0	0	0	0	1	0	0	4559	943	33	3	1425	3	DLAT	11	111916683	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1465682	111916683	23089833	1249	21389										
PIH1D2	120379	genome.wustl.edu	37	chr11	111943771	111943771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttctggggcagcacagagcTgtttcccttctttcagctgc	11	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:111943771T>G	ENST00000280350.4	-	2	350	c.128A>C	c.(127-129)cAg>cCg	p.Q43P	PIH1D2_ENST00000528775.1_Missense_Mutation_p.Q43P|PIH1D2_ENST00000431456.1_Missense_Mutation_p.Q43P|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.Q43P|PIH1D2_ENST00000532211.1_Missense_Mutation_p.Q43P|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000530104.1_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	43										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AGCACAGAGCTGTTTCCCTTC	0.493																																																	0													99	90	93					11																	111943771		2201	4297	6498	SO:0001583	missense	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.128A>C	11.37:g.111943771T>G	ENSP00000280350:p.Gln43Pro		B4DU48|E9PD82	Missense_Mutation	SNP	pfam_PIH	p.Q43P	ENST00000280350.4	37	c.128	CCDS8355.1	11	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219290	0.39201	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	4.97	2.64	0.31445	.	0.921262	0.09448	N	0.800851	T	0.30978	0.0782	M	0.69823	2.125	0.09310	N	1	P;P;P	0.48764	0.714;0.822;0.915	P;P;P	0.54965	0.48;0.48;0.765	T	0.10965	-1.0607	10	0.32370	T	0.25	0.0401	7.3667	0.26776	0.0:0.2498:0.0:0.7502	.	43;43;43	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	P	43;43;43;43;43;8	ENSP00000434275:Q43P;ENSP00000388209:Q43P;ENSP00000431841:Q43P;ENSP00000280350:Q43P;ENSP00000431147:Q43P;ENSP00000433297:Q8P	ENSP00000280350:Q43P	Q	-	2	0	PIH1D2	111448981	0.203000	0.23435	0.490000	0.27465	0.523000	0.34469	2.342000	0.43992	0.993000	0.38866	0.533000	0.62120	CAG	PIH1D2	-	pfam_PIH		0.493	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D2	HGNC	protein_coding	OTTHUMT00000391916.1	T	NM_138789		111943771	-1	no_errors	ENST00000280350	ensembl	human	known	70_37	missense	SNP	0.071	G	G	111943771	T	G	111943771	3	3	131	1	0	0	0	0	1	0	0	0	11931	1580	55	5	897	5	PIH1D2	11	111943771	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	27088	111943771	23062745	1250	21390										
ZW10	9183	genome.wustl.edu	37	chr11	113604472	113604472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgttctgaaacaaggcacGaattaaagcttttacttcac	7	8	2	1	rs564542696		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113604472G>A	ENST00000200135.3	-	16	2428	c.2284C>T	c.(2284-2286)Cgt>Tgt	p.R762C		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	762					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AACAAGGCACGAATTAAAGCT	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		17822	0		0	False		,,,				2504	0																0													102	99	100					11																	113604472		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2284C>T	11.37:g.113604472G>A	ENSP00000200135:p.Arg762Cys		A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.R762C	ENST00000200135.3	37	c.2284	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.118194	0.94385	.	.	ENSG00000086827	ENST00000200135	T	0.53423	0.62	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77859	-0.2431	10	0.87932	D	0	-10.092	19.5534	0.95331	0.0:0.0:1.0:0.0	.	762	O43264	ZW10_HUMAN	C	762	ENSP00000200135:R762C	ENSP00000200135:R762C	R	-	1	0	ZW10	113109682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.610000	0.88304	0.591000	0.81541	CGT	ZW10	-	NULL		0.413	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	G	NM_004724		113604472	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113604472	G	A	113604472	3	1	131	1	0	0	0	0	1	0	0	0	18277	1058	37	1	59	1	ZW10	11	113604472	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1660701	113604472	21402044	1251	21391										
CLDN25	644672	genome.wustl.edu	37	chr11	113651087	113651087	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcttctcggcctgcctgggAaaagaagatgtgccttttcc	10	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113651087A>G	ENST00000453129.2	+	1	619	c.570A>G	c.(568-570)ggA>ggG	p.G190G		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CCTGCCTGGGAAAAGAAGATG	0.562																																																	0													82	83	83					11																	113651087		1992	4175	6167	SO:0001819	synonymous_variant	644672				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.570A>G	11.37:g.113651087A>G				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.G190	ENST00000453129.2	37	c.570	CCDS44736.1	11																																																																																			CLDN25	-	NULL		0.562	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CLDN25	HGNC	protein_coding	OTTHUMT00000398706.1	A	NM_001101389		113651087	1	no_errors	ENST00000453129	ensembl	human	known	70_37	silent	SNP	0.606	G	G	113651087	A	G	113651087	2	3	131	1	0	0	0	0	0	0	0	1	3490	233	9	5		5	CLDN25	11	113651087	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	46615	113651087	21355429	1252	21392										
HTR3B	9177	genome.wustl.edu	37	chr11	113803663	113803663	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtgttgtttgcagtggaaGacgtagacctggcctttctg	13	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113803663G>T	ENST00000260191.2	+	6	801	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	HTR3B_ENST00000537778.1_Missense_Mutation_p.D171Y	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TGCAGTGGAAGACGTAGACCT	0.468																																																	0													133	120	124					11																	113803663		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.544G>T	11.37:g.113803663G>T	ENSP00000260191:p.Asp182Tyr		B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.D182Y	ENST00000260191.2	37	c.544	CCDS8364.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.775402|4.775402	0.90108|0.90108	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000260191;ENST00000537778|ENST00000543092	T;T|.	0.80393|.	-1.37;-1.37|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.051673|.	0.85682|.	D|.	0.000000|.	T|T	0.77018|0.77018	0.4069|0.4069	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.72625|.	0.978;0.964|.	T|T	0.73711|0.73711	-0.3897|-0.3897	10|5	0.72032|.	D|.	0.01|.	-19.6554|-19.6554	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;182|.	O95264-2;O95264|.	.;5HT3B_HUMAN|.	Y|N	182;171|110	ENSP00000260191:D182Y;ENSP00000443118:D171Y|.	ENSP00000260191:D182Y|.	D|K	+|+	1|3	0|2	HTR3B|HTR3B	113308873|113308873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.920000|6.920000	0.75799|0.75799	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AAG	HTR3B	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,tigrfam_Neur_channel		0.468	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113803663	1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113803663	G	T	113803663	3	4	131	1	0	0	0	0	1	0	0	0	7465	942	33	3	566	3	HTR3B	11	113803663	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	152576	113803663	21202853	1253	21393										
RBM7	10179	genome.wustl.edu	37	chr11	114278508	114278508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacagtagtagagatggaaaAtggcgctcatctcgacacta	11	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:114278508A>C	ENST00000540163.1	+	5	1422	c.780A>C	c.(778-780)aaA>aaC	p.K260N	RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.K261N|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000545678.1_Missense_Mutation_p.K140N			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	260					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGATGGAAAATGGCGCTCAT	0.363																																																	0													85	80	82					11																	114278508		2201	4296	6497	SO:0001583	missense	10179			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.780A>C	11.37:g.114278508A>C	ENSP00000439918:p.Lys260Asn		B2R6K8|Q9NUT4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K260N	ENST00000540163.1	37	c.780	CCDS8370.1	11	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305974	0.60305	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.32753	1.44;2.44	5.66	2.15	0.27550	.	0.158829	0.53938	D	0.000045	T	0.21631	0.0521	L	0.44542	1.39	0.29195	N	0.875608	P;P	0.49090	0.919;0.842	B;B	0.40256	0.324;0.185	T	0.17410	-1.0370	10	0.72032	D	0.01	-19.807	5.196	0.15239	0.6246:0.143:0.2324:0.0	.	260;260	Q6IRX3;Q9Y580	.;RBM7_HUMAN	N	260;261;140	ENSP00000439918:K260N;ENSP00000364639:K261N	ENSP00000364639:K261N	K	+	3	2	RBM7	113783718	0.995000	0.38212	0.998000	0.56505	0.979000	0.70002	0.213000	0.17521	0.119000	0.18210	0.477000	0.44152	AAA	RBM7	-	NULL		0.363	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	RBM7	HGNC	protein_coding	OTTHUMT00000399010.1	A	NM_016090		114278508	1	no_errors	ENST00000540163	ensembl	human	known	70_37	missense	SNP	0.998	C	C	114278508	A	C	114278508	3	2	131	1	0	0	0	0	1	0	0	0	13175	98	4	5	798	5	RBM7	11	114278508	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	474845	114278508	20728008	1254	21394										
FAM55A	120400	genome.wustl.edu	37	chr11	114393199	114393199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtttcttaaagattccagTttcatgaagatcaaaaaact	5	6	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:114393199T>C	ENST00000424269.1	-	5	1134	c.1135A>G	c.(1135-1137)Act>Gct	p.T379A	NXPE1_ENST00000251921.2_Missense_Mutation_p.T237A|NXPE1_ENST00000536271.1_Missense_Mutation_p.T95A			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	379						extracellular region (GO:0005576)											AAGATTCCAGTTTCATGAAGA	0.318																																																	0													67	71	70					11																	114393199		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1135A>G	11.37:g.114393199T>C	ENSP00000411690:p.Thr379Ala		B0YJ13	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.T379A	ENST00000424269.1	37	c.1135		11	.	.	.	.	.	.	.	.	.	.	T	3.004	-0.205362	0.06180	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.17213	2.29;2.29;2.29	4.44	3.29	0.37713	.	0.395383	0.23081	N	0.052146	T	0.08179	0.0204	N	0.11927	0.2	0.21105	N	0.999786	B	0.11235	0.004	B	0.17979	0.02	T	0.38585	-0.9654	10	0.07644	T	0.81	.	9.8318	0.40946	0.1541:0.0:0.0:0.8459	.	379	Q8N323	FA55A_HUMAN	A	95;237;379	ENSP00000445200:T95A;ENSP00000251921:T237A;ENSP00000411690:T379A	ENSP00000251921:T237A	T	-	1	0	FAM55A	113898409	0.975000	0.34042	0.776000	0.31678	0.823000	0.46562	1.917000	0.39996	0.784000	0.33661	0.528000	0.53228	ACT	NXPE1	-	NULL		0.318	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		T	NM_152315		114393199	-1	no_errors	ENST00000424269	ensembl	human	known	70_37	missense	SNP	0.928	C	C	114393199	T	C	114393199	3	2	131	1	0	0	0	0	1	0	0	0	5602	1725	60	5	512	5	FAM55A	11	114393199	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	114691	114393199	20613317	1255	21395										
FAM55A	120400	genome.wustl.edu	37	chr11	114393690	114393690	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcctttcaaacagccatttAtcttaattgtgtctaactga	5	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:114393690A>C	ENST00000424269.1	-	4	1018	c.1019T>G	c.(1018-1020)aTa>aGa	p.I340R	NXPE1_ENST00000251921.2_Missense_Mutation_p.I198R|NXPE1_ENST00000536271.1_Missense_Mutation_p.I56R			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	340						extracellular region (GO:0005576)											ACAGCCATTTATCTTAATTGT	0.403																																																	0													110	94	99					11																	114393690		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1019T>G	11.37:g.114393690A>C	ENSP00000411690:p.Ile340Arg		B0YJ13	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.I340R	ENST00000424269.1	37	c.1019		11	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479298	0.44044	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.18338	2.22;2.22;2.22	4.46	0.276	0.15663	.	0.691435	0.13418	N	0.389359	T	0.36082	0.0954	M	0.87547	2.89	0.09310	N	1	P	0.40731	0.728	P	0.57057	0.812	T	0.23404	-1.0189	10	0.54805	T	0.06	.	3.6245	0.08108	0.6041:0.0:0.2362:0.1597	.	340	Q8N323	FA55A_HUMAN	R	56;198;340	ENSP00000445200:I56R;ENSP00000251921:I198R;ENSP00000411690:I340R	ENSP00000251921:I198R	I	-	2	0	FAM55A	113898900	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.080000	0.30779	-0.068000	0.12953	0.528000	0.53228	ATA	NXPE1	-	NULL		0.403	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		A	NM_152315		114393690	-1	no_errors	ENST00000424269	ensembl	human	known	70_37	missense	SNP	0.001	C	C	114393690	A	C	114393690	3	2	131	1	0	0	0	0	1	0	0	0	5602	449	16	5	632	5	FAM55A	11	114393690	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	491	114393690	20612826	1256	21396										
SIDT2	51092	genome.wustl.edu	37	chr11	117053326	117053326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgctcagtcatctccattcAggatgtgctggtgagttgcc	11	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:117053326A>C	ENST00000324225.4	+	5	1139	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	SIDT2_ENST00000431081.2_Missense_Mutation_p.Q203P|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	203					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATCTCCATTCAGGATGTGCTG	0.567																																																	0													121	102	109					11																	117053326		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.608A>C	11.37:g.117053326A>C	ENSP00000314023:p.Gln203Pro		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.Q203P	ENST00000324225.4	37	c.608	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429454	0.83776	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;1.0;1.0	T	0.70215	-0.4933	10	0.72032	D	0.01	-17.8094	14.6587	0.68852	1.0:0.0:0.0:0.0	.	203;203;203;203	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	P	203;203;203;53	ENSP00000314023:Q203P;ENSP00000278951:Q203P;ENSP00000399635:Q203P;ENSP00000436983:Q53P	ENSP00000278951:Q203P	Q	+	2	0	SIDT2	116558536	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.686000	0.91250	2.118000	0.64928	0.533000	0.62120	CAG	SIDT2	-	NULL		0.567	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	A	NM_015996		117053326	1	no_errors	ENST00000278951	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117053326	A	C	117053326	3	2	131	1	0	0	0	0	1	0	0	0	14333	188	7	5	626	5	SIDT2	11	117053326	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2659636	117053326	17953190	1257	21397										
SLC37A4	2542	genome.wustl.edu	37	chr11	118898959	118898959	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcccctgggccaggccattaAggaaccagagggcagcaaag	14	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:118898959A>C	ENST00000545985.1	-	4	1082	c.326T>G	c.(325-327)cTt>cGt	p.L109R	SLC37A4_ENST00000330775.7_Missense_Mutation_p.L109R|SLC37A4_ENST00000538950.1_Missense_Mutation_p.L36R|SLC37A4_ENST00000357590.5_Missense_Mutation_p.L109R|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	109				L -> F (in Ref. 3; AAD19898). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGGCCATTAAGGAACCAGAG	0.582																																																	0													29	33	32					11																	118898959		1953	4144	6097	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.326T>G	11.37:g.118898959A>C	ENSP00000475241:p.Leu109Arg		O96016|Q5J7V4|Q9UI19|Q9UNS4	RNA	SNP	-	NULL	ENST00000545985.1	37	NULL		11																																																																																			SLC37A4	-	-		0.582	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	SLC37A4	HGNC	protein_coding		A	NM_001467		118898959	-1	no_errors	ENST00000330775	ensembl	human	known	70_37	rna	SNP	1.000	C	C	118898959	A	C	118898959	3	2	131	1	0	0	0	0	1	0	0	0	14630	72	3	5	1062	5	SLC37A4	11	118898959	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1845633	118898959	16107557	1258	21398										
ABCG4	64137	genome.wustl.edu	37	chr11	119020789	119020789	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgctgaccacgcacctgaaGaaggtggagaaccacatcac	11	12	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:119020789G>T	ENST00000449422.2	+	2	302	c.114G>T	c.(112-114)aaG>aaT	p.K38N	ABCG4_ENST00000531739.1_Missense_Mutation_p.K38N|ABCG4_ENST00000307417.3_Missense_Mutation_p.K38N	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	38					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGCACCTGAAGAAGGTGGAGA	0.662																																																	0													66	70	69					11																	119020789		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.114G>T	11.37:g.119020789G>T	ENSP00000406874:p.Lys38Asn		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K38N	ENST00000449422.2	37	c.114	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366680	0.61513	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	4.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.51422	1.61	0.52501	D	0.999958	D	0.89917	1.0	D	0.83275	0.996	T	0.00512	-1.1696	10	0.44086	T	0.13	-25.1223	12.6344	0.56675	0.0804:0.0:0.9196:0.0	.	38	Q9H172	ABCG4_HUMAN	N	38	ENSP00000304111:K38N;ENSP00000431915:K38N;ENSP00000406874:K38N;ENSP00000434318:K38N	ENSP00000304111:K38N	K	+	3	2	ABCG4	118525999	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.413000	0.73308	1.161000	0.42604	0.650000	0.86243	AAG	ABCG4	-	NULL		0.662	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	G	NM_022169		119020789	1	no_errors	ENST00000307417	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119020789	G	T	119020789	3	4	131	1	0	0	0	0	1	0	0	0	70	933	33	3	116	3	ABCG4	11	119020789	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	121830	119020789	15985727	1259	21399										
RNF26	79102	genome.wustl.edu	37	chr11	119207121	119207121	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggcatcctgcagaccctcaAtgtctacctctgaagcctcc	8	16	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:119207121A>C	ENST00000311413.4	+	1	1885	c.1289A>C	c.(1288-1290)aAt>aCt	p.N430T	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'Flank	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	430						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CAGACCCTCAATGTCTACCTC	0.627																																																	0													39	42	41					11																	119207121		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1289A>C	11.37:g.119207121A>C	ENSP00000312439:p.Asn430Thr		Q542Y8	Missense_Mutation	SNP	pfscan_Znf_RING	p.N430T	ENST00000311413.4	37	c.1289	CCDS8419.1	11	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525819	0.85600	.	.	ENSG00000173456	ENST00000311413	T	0.31247	1.5	5.52	5.52	0.82312	.	0.070614	0.56097	D	0.000036	T	0.37156	0.0993	N	0.19112	0.55	0.52501	D	0.999951	D	0.67145	0.996	P	0.60012	0.867	T	0.27191	-1.0081	10	0.59425	D	0.04	-7.5487	14.8261	0.70113	1.0:0.0:0.0:0.0	.	430	Q9BY78	RNF26_HUMAN	T	430	ENSP00000312439:N430T	ENSP00000312439:N430T	N	+	2	0	RNF26	118712331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.091000	0.63221	0.459000	0.35465	AAT	RNF26	-	NULL		0.627	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	A	NM_032015		119207121	1	no_errors	ENST00000311413	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119207121	A	C	119207121	3	2	131	1	0	0	0	0	1	0	0	0	13516	101	4	5	1291	5	RNF26	11	119207121	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	186332	119207121	15799395	1260	21400										
POU2F3	25833	genome.wustl.edu	37	chr11	120176482	120176482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcccctgctggagaagtggCtgaatgatgcaggtaggcct	15	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:120176482C>T	ENST00000543440.2	+	8	907	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	POU2F3_ENST00000260264.4_Silent_p.L255L	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	253	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGAGAAGTGGCTGAATGATGC	0.567																																																	0													116	95	102					11																	120176482		2203	4299	6502	SO:0001819	synonymous_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.757C>T	11.37:g.120176482C>T			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.L255	ENST00000543440.2	37	c.763	CCDS8431.1	11																																																																																			POU2F3	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU		0.567	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120176482	1	no_errors	ENST00000543440	ensembl	human	known	70_37	silent	SNP	1.000	T	T	120176482	C	T	120176482	2	4	131	1	0	0	0	0	0	0	0	1	12297	796	28	4		4	POU2F3	11	120176482	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	969361	120176482	14830034	1261	21401										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120327884	120327884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caccttagatggcacacctcGtactctcaatactgtctttg	6	13	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:120327884G>A	ENST00000397843.2	+	23	2280	c.2114G>A	c.(2113-2115)cGt>cAt	p.R705H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R686H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R602H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	705					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R705H(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGCACACCTCGTACTCTCAAT	0.418			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - Missense(1)	endometrium(1)											137	128	131					11																	120327884		1936	4154	6090	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2114G>A	11.37:g.120327884G>A	ENSP00000380942:p.Arg705His		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R686H	ENST00000397843.2	37	c.2057	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.532721	0.96446	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68903	-0.25;-0.36;-0.24	5.97	5.97	0.96955	.	0.000000	0.45867	D	0.000324	T	0.77745	0.4176	M	0.63428	1.95	0.43222	D	0.995109	D;D;D	0.71674	0.998;0.998;0.997	P;D;P	0.65573	0.752;0.936;0.864	T	0.70389	-0.4885	10	0.13108	T	0.6	-13.4745	18.6044	0.91261	0.0:0.0:1.0:0.0	.	602;686;705	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	705;686;602	ENSP00000380942:R705H;ENSP00000349056:R686H;ENSP00000432984:R602H	ENSP00000349056:R686H	R	+	2	0	ARHGEF12	119833094	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	6.394000	0.73223	2.828000	0.97474	0.655000	0.94253	CGT	ARHGEF12	-	NULL		0.418	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120327884	1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	0.997	A	A	120327884	G	A	120327884	3	1	131	1	0	0	0	0	1	0	0	0	897	1145	40	2	2204	2	ARHGEF12	11	120327884	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	151402	120327884	14678632	1262	21402										
GRIK4	2900	genome.wustl.edu	37	chr11	120769288	120769288	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagcatggacagccacctCtatgcctccaacatctcgga	7	16	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACAGCCACCTCTATGCCTCCA	0.602																																																	0													214	141	166					11																	120769288		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1212C>A	11.37:g.120769288C>A			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L404	ENST00000527524.2	37	c.1212	CCDS8433.1	11																																																																																			GRIK4	-	NULL		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120769288	1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	0.737	A	A	120769288	C	A	120769288	2	1	131	1	0	0	0	0	0	0	0	1	6796	900	32	3		3	GRIK4	11	120769288	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	441404	120769288	14237228	1263	21403										
UBASH3B	84959	genome.wustl.edu	37	chr11	122678796	122678796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaataacatcctgattgtggCccacgcatcttcccttgaag	7	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:122678796C>T	ENST00000284273.5	+	13	2099	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	575	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTGATTGTGGCCCACGCATCT	0.448																																																	0													344	330	335					11																	122678796		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1724C>T	11.37:g.122678796C>T	ENSP00000284273:p.Ala575Val		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.A575V	ENST00000284273.5	37	c.1724	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.324325	0.95708	.	.	ENSG00000154127	ENST00000284273	T	0.37752	1.18	5.85	5.85	0.93711	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	N	0.20401	0.57	0.80722	D	1	D	0.63046	0.992	P	0.56434	0.798	T	0.32375	-0.9909	10	0.54805	T	0.06	-35.2152	19.7681	0.96350	0.0:1.0:0.0:0.0	.	575	Q8TF42	UBS3B_HUMAN	V	575	ENSP00000284273:A575V	ENSP00000284273:A575V	A	+	2	0	UBASH3B	122184006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.638000	0.67861	2.768000	0.95171	0.655000	0.94253	GCC	UBASH3B	-	pfam_His_Pase_superF_clade-1		0.448	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	C	NM_032873		122678796	1	no_errors	ENST00000284273	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122678796	C	T	122678796	3	4	131	1	0	0	0	0	1	0	0	0	16871	739	26	4	1774	4	UBASH3B	11	122678796	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1909508	122678796	12327720	1264	21404										
HSPA8	3312	genome.wustl.edu	37	chr11	122929020	122929020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagaatcttctgtttgtcCtcatcgttaatcttgccttg	6	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:122929020C>A	ENST00000532636.1	-	8	1814	c.1695G>T	c.(1693-1695)gaG>gaT	p.E565D	HSPA8_ENST00000526110.1_Missense_Mutation_p.E546D|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.E329D|HSPA8_ENST00000227378.3_Missense_Mutation_p.E565D|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.E419D|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.E565D|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	565					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCTGTTTGTCCTCATCGTTAA	0.373																																					Colon(21;486 594 5900 6733 14272)												0													114	119	118					11																	122929020		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1695G>T	11.37:g.122929020C>A	ENSP00000437125:p.Glu565Asp		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E565D	ENST00000532636.1	37	c.1695	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382305	0.24944	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.67	-3.9	0.04181	.	0.126306	0.50627	N	0.000112	T	0.05044	0.0135	N	0.05078	-0.115	0.37242	D	0.906146	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.30563	-0.9974	10	0.25106	T	0.35	-22.533	3.2052	0.06663	0.0918:0.2812:0.1813:0.4457	.	565;565	Q53GZ6;P11142	.;HSP7C_HUMAN	D	565;419;565;565;329;546;156;117	ENSP00000437125:E565D;ENSP00000437189:E419D;ENSP00000432083:E565D;ENSP00000227378:E565D;ENSP00000433316:E329D;ENSP00000433584:E546D;ENSP00000435908:E156D;ENSP00000435019:E117D	ENSP00000227378:E565D	E	-	3	2	HSPA8	122434230	0.000000	0.05858	0.785000	0.31869	0.956000	0.61745	-2.028000	0.01431	-0.745000	0.04772	0.561000	0.74099	GAG	HSPA8	-	pfam_Hsp_70_fam		0.373	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122929020	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	0.190	A	A	122929020	C	A	122929020	3	1	131	1	0	0	0	0	1	0	0	0	7436	680	24	4	253	4	HSPA8	11	122929020	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	250224	122929020	12077496	1265	21405										
GRAMD1B	57476	genome.wustl.edu	37	chr11	123464850	123464850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaagctctttaagcagcttCcagacacggagcgcctcatt	9	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:123464850C>T	ENST00000529750.1	+	4	643	c.316C>T	c.(316-318)Cca>Tca	p.P106S	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P113S|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P106S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	106	GRAM.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TAAGCAGCTTCCAGACACGGA	0.547																																																	0													86	83	84					11																	123464850		1916	4138	6054	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.316C>T	11.37:g.123464850C>T	ENSP00000436500:p.Pro106Ser		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.P106S	ENST00000529750.1	37	c.316	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.292045	0.95546	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.59	5.59	0.84812	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.87578	0.98;0.998;0.996;0.994	D	0.93966	0.7245	10	0.54805	T	0.06	.	19.9611	0.97250	0.0:1.0:0.0:0.0	.	66;113;106;113	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	S	113;113;106;106;66;102	ENSP00000402457:P113S;ENSP00000325628:P106S;ENSP00000436500:P106S;ENSP00000432987:P66S;ENSP00000434214:P102S	ENSP00000325628:P106S	P	+	1	0	GRAMD1B	122970060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.784000	0.95788	0.643000	0.83706	CCA	GRAMD1B	-	pfam_GRAM,smart_GRAM		0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	C	XM_370660		123464850	1	no_errors	ENST00000322282	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123464850	C	T	123464850	3	4	131	1	0	0	0	0	1	0	0	0	6768	855	30	1	330	1	GRAMD1B	11	123464850	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	535830	123464850	11541666	1266	21406										
OR6M1	390261	genome.wustl.edu	37	chr11	123676786	123676786	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggatcatgcaaccagcaaaaGatatggttttctcttctcct	7	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:123676786G>T	ENST00000309154.2	-	1	309	c.272C>A	c.(271-273)tCt>tAt	p.S91Y		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACCAGCAAAAGATATGGTTTT	0.438																																																	0													90	84	86					11																	123676786		2202	4299	6501	SO:0001583	missense	390261			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.272C>A	11.37:g.123676786G>T	ENSP00000311038:p.Ser91Tyr		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S91Y	ENST00000309154.2	37	c.272	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291244	0.23564	.	.	ENSG00000196099	ENST00000309154	T	0.00745	5.75	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.268867	0.19764	U	0.106620	T	0.03608	0.0103	M	0.93638	3.44	0.09310	N	1	P	0.38148	0.62	P	0.45310	0.476	T	0.01424	-1.1358	10	0.87932	D	0	.	12.694	0.56992	0.0:0.0:1.0:0.0	.	91	Q8NGM8	OR6M1_HUMAN	Y	91	ENSP00000311038:S91Y	ENSP00000311038:S91Y	S	-	2	0	OR6M1	123181996	0.971000	0.33674	0.208000	0.23602	0.023000	0.10783	4.797000	0.62503	1.802000	0.52723	0.655000	0.94253	TCT	OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	G	NM_001005325		123676786	-1	no_errors	ENST00000309154	ensembl	human	known	70_37	missense	SNP	0.162	T	T	123676786	G	T	123676786	3	4	131	1	0	0	0	0	1	0	0	0	11229	942	33	3	672	3	OR6M1	11	123676786	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	211936	123676786	11329730	1267	21407										
VWA5A	4013	genome.wustl.edu	37	chr11	123989239	123989239	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactaaggtcatcttttataGggtcgtctaaggacagttgc	10	7	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:123989239G>T	ENST00000456829.2	+	6	720		c.e6-1		VWA5A_ENST00000360334.4_Splice_Site|VWA5A_ENST00000392744.4_Splice_Site|VWA5A_ENST00000361352.5_Splice_Site|VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000449321.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A											autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATCTTTTATAGGGTCGTCTAA	0.443																																																	0													148	150	150					11																	123989239		2201	4299	6500	SO:0001630	splice_region_variant	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.470-1G>T	11.37:g.123989239G>T			Q6UN19|Q6UN20|Q9BVF8	Splice_Site	SNP	-	e4-1	ENST00000456829.2	37	c.470-1	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199698	0.22121	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9322	0.70923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA5A	123494449	0.995000	0.38212	0.040000	0.18447	0.002000	0.02628	4.848000	0.62874	2.595000	0.87683	0.650000	0.86243	.	VWA5A	-	-		0.443	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	G	NM_014622	Intron	123989239	1	no_errors	ENST00000392748	ensembl	human	known	70_37	splice_site	SNP	0.101	T	T	123989239	G	T	123989239	5	4	131	1	0	0	0	0	0	0	1	0	17273	1014	35	4	483	4	VWA5A	11	123989239	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	312453	123989239	11017277	1268	21408										
TBRG1	84897	genome.wustl.edu	37	chr11	124500738	124500738	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagagctgtccaggagctCgaaaatgcatcaagtaagtg	11	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:124500738C>T	ENST00000441174.3	+	7	1138	c.934C>T	c.(934-936)Cga>Tga	p.R312*	TBRG1_ENST00000375005.4_Nonsense_Mutation_p.R161*|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	312	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCCAGGAGCTCGAAAATGCAT	0.473																																																	0													41	38	39					11																	124500738		2201	4299	6500	SO:0001587	stop_gained	84897			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.934C>T	11.37:g.124500738C>T	ENSP00000409016:p.Arg312*		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Nonsense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.R312*	ENST00000441174.3	37	c.934	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	C	43	9.846276	0.99279	.	.	ENSG00000154144	ENST00000441174;ENST00000375005	.	.	.	6.17	6.17	0.99709	.	0.128906	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1266	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	312;161	.	ENSP00000364144:R161X	R	+	1	2	TBRG1	124005948	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.061000	0.76699	2.941000	0.99782	0.655000	0.94253	CGA	TBRG1	-	pfam_FYrich_C,smart_FYrich_C		0.473	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	C	NM_032811		124500738	1	no_errors	ENST00000441174	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	124500738	C	T	124500738	4	4	131	1	0	0	0	0	0	1	0	0	15678	876	31	1	960	1	TBRG1	11	124500738	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	511499	124500738	10505778	1269	21409										
HEPACAM	220296	genome.wustl.edu	37	chr11	124793851	124793851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagttcaaggtgaaggcctcGctgagctccagcacagtggt	13	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:124793851G>A	ENST00000298251.4	-	3	888	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGAAGGCCTCGCTGAGCTCCA	0.567																																																	0													77	61	66					11																	124793851		2201	4299	6500	SO:0001819	synonymous_variant	220296			AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.483C>T	11.37:g.124793851G>A				Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S161	ENST00000298251.4	37	c.483	CCDS8456.1	11																																																																																			HEPACAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.567	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM	HGNC	protein_coding	OTTHUMT00000387125.1	G	NM_152722		124793851	-1	no_errors	ENST00000298251	ensembl	human	known	70_37	silent	SNP	0.857	A	A	124793851	G	A	124793851	2	1	131	1	0	0	0	0	0	0	0	1	7072	1078	38	2		2	HEPACAM	11	124793851	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	293113	124793851	10212665	1270	21410										
EI24	9538	genome.wustl.edu	37	chr11	125447446	125447446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttattcctgtgcttcagtCggtaacagcccgaattatcg	8	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:125447446C>T	ENST00000278903.6	+	5	538	c.296C>T	c.(295-297)tCg>tTg	p.S99L	EI24_ENST00000343678.4_Missense_Mutation_p.S99L|RNU6-1156P_ENST00000410365.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	99					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTGCTTCAGTCGGTAACAGCC	0.418																																																	0													321	269	285					11																	125447446		1897	4127	6024	SO:0001583	missense	9538			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.296C>T	11.37:g.125447446C>T	ENSP00000278903:p.Ser99Leu		A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	NULL	p.S99L	ENST00000278903.6	37	c.296		11	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106410	0.37145	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842;ENST00000527520;ENST00000527131	.	.	.	5.61	4.69	0.59074	.	0.253824	0.40064	N	0.001190	T	0.37517	0.1006	N	0.12182	0.205	0.51012	D	0.999909	B;B;B;B	0.19817	0.039;0.015;0.022;0.014	B;B;B;B	0.15484	0.01;0.005;0.013;0.01	T	0.18713	-1.0328	9	0.09843	T	0.71	.	15.5394	0.76031	0.1394:0.8606:0.0:0.0	.	85;99;99;99	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	L	99;99;142;99;85;99	.	ENSP00000278903:S99L	S	+	2	0	EI24	124952656	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	3.389000	0.52516	1.364000	0.46038	-0.182000	0.12963	TCG	EI24	-	NULL		0.418	EI24-201	KNOWN	basic|appris_principal	protein_coding	EI24	HGNC	protein_coding		C	NM_004879		125447446	1	no_errors	ENST00000278903	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125447446	C	T	125447446	3	4	131	1	0	0	0	0	1	0	0	0	4995	893	31	1	310	1	EI24	11	125447446	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	653595	125447446	9559070	1271	21411										
CDON	50937	genome.wustl.edu	37	chr11	125850955	125850955	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtctcttacattcactagatGatgaggatgttcaaaatcca	7	8	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:125850955G>T	ENST00000392693.3	-	17	3392	c.3265C>A	c.(3265-3267)Cat>Aat	p.H1089N	CDON_ENST00000263577.7_Missense_Mutation_p.H1089N|CDON_ENST00000531738.1_Missense_Mutation_p.H466N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1089					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCACTAGATGATGAGGATGT	0.463																																																	0													129	118	122					11																	125850955		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3265C>A	11.37:g.125850955G>T	ENSP00000376458:p.His1089Asn		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H1089N	ENST00000392693.3	37	c.3265	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546048	0.86022	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.74632	-0.83;-0.23;-0.86	5.67	5.67	0.87782	.	0.000000	0.51477	D	0.000087	D	0.84529	0.5492	M	0.67953	2.075	0.50171	D	0.999857	D;D;P	0.64830	0.99;0.994;0.856	P;P;P	0.62014	0.791;0.897;0.51	D	0.84390	0.0554	10	0.52906	T	0.07	-24.0915	19.7606	0.96314	0.0:0.0:1.0:0.0	.	1089;1089;466	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	N	1089;466;1089	ENSP00000376458:H1089N;ENSP00000432901:H466N;ENSP00000263577:H1089N	ENSP00000263577:H1089N	H	-	1	0	CDON	125356165	1.000000	0.71417	0.976000	0.42696	0.895000	0.52256	7.896000	0.87350	2.661000	0.90470	0.579000	0.79373	CAT	CDON	-	NULL		0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125850955	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125850955	G	T	125850955	3	4	131	1	0	0	0	0	1	0	0	0	3175	1290	45	3	545	3	CDON	11	125850955	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	403509	125850955	9155561	1272	21412										
ARHGAP32	9743	genome.wustl.edu	37	chr11	128936741	128936741	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccgaaaatcttcataacttCttttaacaatccaacttttt	1	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:128936741C>A	ENST00000310343.9	-	6	511	c.512G>T	c.(511-513)aGa>aTa	p.R171I	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R97I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	171	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTCATAACTTCTTTTAACAAT	0.353																																																	0													57	54	55					11																	128936741		1566	3578	5144	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.512G>T	11.37:g.128936741C>A	ENSP00000310561:p.Arg171Ile		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R171I	ENST00000310343.9	37	c.512	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948258	0.92593	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.62788	-0.0;-0.0;-0.0	5.04	5.04	0.67666	Phox homologous domain (3);	.	.	.	.	T	0.81592	0.4855	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.959	D	0.84616	0.0681	9	0.87932	D	0	.	17.3125	0.87213	0.0:1.0:0.0:0.0	.	105;171	Q86T64;A7KAX9	.;RHG32_HUMAN	I	171;97;105;145	ENSP00000310561:R171I;ENSP00000432468:R97I;ENSP00000432303:R145I	ENSP00000310561:R171I	R	-	2	0	ARHGAP32	128441951	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.148000	0.77389	2.627000	0.88993	0.557000	0.71058	AGA	ARHGAP32	-	pfam_Phox,superfamily_Phox		0.353	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	C	NM_014715		128936741	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128936741	C	A	128936741	3	1	131	1	0	0	0	0	1	0	0	0	881	913	32	3	5819	3	ARHGAP32	11	128936741	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3085786	128936741	6069775	1273	21413										
APLP2	334	genome.wustl.edu	37	chr11	129980540	129980540	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcaagagtcgctttgttacAcctttcaagtgtctcggtga	10	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:129980540A>C	ENST00000263574.5	+	3	459	c.387A>C	c.(385-387)acA>acC	p.T129T	APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.T139T|APLP2_ENST00000338167.5_Silent_p.T129T|APLP2_ENST00000543137.1_Silent_p.T36T|APLP2_ENST00000345598.5_Silent_p.T129T|APLP2_ENST00000528499.1_Silent_p.T129T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	129					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GCTTTGTTACACCTTTCAAGT	0.443																																																	0													153	130	138					11																	129980540		2201	4297	6498	SO:0001819	synonymous_variant	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.387A>C	11.37:g.129980540A>C			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.T129	ENST00000263574.5	37	c.387	CCDS8486.1	11																																																																																			APLP2	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra		0.443	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	A	NM_001642		129980540	1	no_errors	ENST00000263574	ensembl	human	known	70_37	silent	SNP	0.910	C	C	129980540	A	C	129980540	2	2	131	1	0	0	0	0	0	0	0	1	779	146	6	5		5	APLP2	11	129980540	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1043799	129980540	5025976	1274	21414										
SLC6A13	6540	genome.wustl.edu	37	chr12	333602	333602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggagaacgaccatgaagaAgaaacagcaggcccagagag	13	9	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:333602A>C	ENST00000343164.4	-	10	1190	c.1138T>G	c.(1138-1140)Ttc>Gtc	p.F380V	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.F288V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	380					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCATGAAGAAGAAACAGCAG	0.597																																																	0													137	122	127					12																	333602		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1138T>G	12.37:g.333602A>C	ENSP00000339260:p.Phe380Val		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.F380V	ENST00000343164.4	37	c.1138	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	A	29.8	5.036273	0.93630	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	D;D	0.88509	-2.39;-2.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.98905	1.0778	10	0.87932	D	0	.	15.8025	0.78463	1.0:0.0:0.0:0.0	.	288;359;380	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	V	288;359;380	ENSP00000407104:F288V;ENSP00000339260:F380V	ENSP00000318097:F359V	F	-	1	0	SLC6A13	203863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.138000	0.66242	0.368000	0.22195	TTC	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.597	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	A	NM_016615		333602	-1	no_errors	ENST00000343164	ensembl	human	known	70_37	missense	SNP	1.000	C	C	333602	A	C	333602	3	2	131	1	0	0	0	0	1	0	0	0	14706	72	3	5	694	5	SLC6A13	12	333602	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09		333602	133518293	1275	21415										
B4GALNT3	283358	genome.wustl.edu	37	chr12	667745	667745	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagtcatcgatgccattcgGaagcactgtgtggagggaaa	15	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:667745G>C	ENST00000266383.5	+	18	2692	c.2679G>C	c.(2677-2679)cgG>cgC	p.R893R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	893					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATGCCATTCGGAAGCACTGTG	0.607																																																	0													169	134	146					12																	667745		2203	4300	6503	SO:0001819	synonymous_variant	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2679G>C	12.37:g.667745G>C			Q6ZNC1|Q8N7T6	Silent	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.R893	ENST00000266383.5	37	c.2679	CCDS8504.1	12																																																																																			B4GALNT3	-	pfam_Chond_GalNAc		0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	G	NM_173593		667745	1	no_errors	ENST00000266383	ensembl	human	known	70_37	silent	SNP	1.000	C	C	667745	G	C	667745	2	2	131	1	0	0	0	0	0	0	0	1	1269	1161	41	1		1	B4GALNT3	12	667745	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	334143	667745	133184150	1276	21416										
WNT5B	81029	genome.wustl.edu	37	chr12	1740590	1740590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagcttctgacagacgccAactcctggtggtgagtaaga	11	11	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:1740590A>G	ENST00000397196.2	+	2	302	c.70A>G	c.(70-72)Aac>Gac	p.N24D	WNT5B_ENST00000542408.1_Missense_Mutation_p.N24D|WNT5B_ENST00000310594.3_Missense_Mutation_p.N24D|WNT5B_ENST00000537031.1_Missense_Mutation_p.N24D	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	24					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GACAGACGCCAACTCCTGGTG	0.647																																																	0													72	68	69					12																	1740590		2203	4300	6503	SO:0001583	missense	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.70A>G	12.37:g.1740590A>G	ENSP00000380379:p.Asn24Asp		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.N24D	ENST00000397196.2	37	c.70	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796194	0.50208	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87491	-1.05;-1.73;-0.94;-0.94;-0.94;-2.26;-0.05	5.38	4.16	0.48862	.	1.656530	0.02620	N	0.103115	D	0.86690	0.5993	L	0.53249	1.67	0.46336	D	0.99899	B	0.02656	0.0	B	0.06405	0.002	T	0.66480	-0.5913	10	0.48119	T	0.1	.	12.0489	0.53495	0.856:0.144:0.0:0.0	.	24	Q9H1J7	WNT5B_HUMAN	D	24	ENSP00000438414:N24D;ENSP00000445395:N24D;ENSP00000439312:N24D;ENSP00000308887:N24D;ENSP00000380379:N24D;ENSP00000442348:N24D;ENSP00000440600:N24D	ENSP00000308887:N24D	N	+	1	0	WNT5B	1610851	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	5.561000	0.67339	2.048000	0.60808	0.454000	0.30748	AAC	WNT5B	-	NULL		0.647	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	A			1740590	1	no_errors	ENST00000310594	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1740590	A	G	1740590	3	3	131	1	0	0	0	0	1	0	0	0	17423	130	5	5	72	5	WNT5B	12	1740590	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1072845	1740590	132111305	1277	21417										
CACNA1C	775	genome.wustl.edu	37	chr12	2614095	2614095	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttgtacttaacttggttCtcggtgtgcttagcgggtaa	11	6	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:2614095C>A	ENST00000347598.4	+	8	1201	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I	CACNA1C_ENST00000399606.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L401I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L401I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L401I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L401I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399603.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	401					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAACTTGGTTCTCGGTGTGCT	0.398																																																	0													110	105	106					12																	2614095		1888	4136	6024	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1201C>A	12.37:g.2614095C>A	ENSP00000266376:p.Leu401Ile		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L401I	ENST00000347598.4	37	c.1201	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431031	0.83776	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.27	5.27	0.74061	Ion transport (1);	.	.	.	.	D	0.98432	0.9478	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.998;1.0;0.993;0.999;0.998;0.999;0.998;1.0;0.999;0.998;1.0;0.999;1.0;0.99;0.999;0.999;0.99;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.99;0.998;0.99;0.995;0.99;0.995;0.994;0.999;0.995;0.995;0.996;0.995;0.996;0.979;0.995;0.995;0.979;0.99	D	0.99667	1.0995	9	0.87932	D	0	.	19.0978	0.93260	0.0:1.0:0.0:0.0	.	401;398;401;401;401;401;401;401;401;401;401;401;401;401;401;401;401;401;401	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	401	ENSP00000336982:L401I;ENSP00000382563:L401I;ENSP00000437936:L401I;ENSP00000382552:L401I;ENSP00000382547:L401I;ENSP00000382506:L401I;ENSP00000382530:L401I;ENSP00000382546:L401I;ENSP00000382500:L401I;ENSP00000266376:L401I;ENSP00000382515:L401I;ENSP00000382510:L401I;ENSP00000341092:L401I;ENSP00000382537:L401I;ENSP00000329877:L401I;ENSP00000382557:L401I;ENSP00000385724:L401I;ENSP00000382504:L401I	ENSP00000329877:L401I	L	+	1	0	CACNA1C	2484356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.764000	0.62264	2.735000	0.93741	0.655000	0.94253	CTC	CACNA1C	-	pfam_Ion_trans_dom		0.398	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2614095	1	no_errors	ENST00000347598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2614095	C	A	2614095	3	1	131	1	0	0	0	0	1	0	0	0	2545	913	32	3	1339	3	CACNA1C	12	2614095	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	873505	2614095	131237800	1278	21418										
PARP11	57097	genome.wustl.edu	37	chr12	3921552	3921552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatgtgttcccatgctttaTgtcatctttgcagaaacgac	8	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:3921552T>C	ENST00000228820.4	-	8	898	c.754A>G	c.(754-756)Ata>Gta	p.I252V	PARP11_ENST00000397096.2_Intron|PARP11_ENST00000427057.2_Missense_Mutation_p.I171V|PARP11_ENST00000447133.3_Missense_Mutation_p.I171V|PARP11_ENST00000476985.1_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	245	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CCATGCTTTATGTCATCTTTG	0.393																																																	0													94	88	90					12																	3921552		2203	4300	6503	SO:0001583	missense	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.754A>G	12.37:g.3921552T>C	ENSP00000228820:p.Ile252Val		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.I252V	ENST00000228820.4	37	c.754	CCDS8523.2	12	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171944	0.06421	.	.	ENSG00000111224	ENST00000427057;ENST00000228820;ENST00000447133	T;T;T	0.13307	2.6;2.6;2.6	5.95	0.183	0.15082	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.404895	0.30791	N	0.008880	T	0.04543	0.0124	N	0.03608	-0.345	0.25501	N	0.987557	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.001	T	0.36939	-0.9727	10	0.27785	T	0.31	.	5.7266	0.18017	0.0:0.1679:0.4399:0.3922	.	171;252;245	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	V	171;252;171	ENSP00000397058:I171V;ENSP00000228820:I252V;ENSP00000405385:I171V	ENSP00000228820:I252V	I	-	1	0	PARP11	3791813	0.959000	0.32827	0.997000	0.53966	0.996000	0.88848	0.359000	0.20233	0.079000	0.16929	0.528000	0.53228	ATA	PARP11	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.393	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	T			3921552	-1	no_errors	ENST00000228820	ensembl	human	known	70_37	missense	SNP	0.998	C	C	3921552	T	C	3921552	3	2	131	1	0	0	0	0	1	0	0	0	11480	1464	51	5	266	5	PARP11	12	3921552	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1307457	3921552	129930343	1279	21419										
PARP11	57097	genome.wustl.edu	37	chr12	3939163	3939163	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttgttttagaaaataattCttctgctttgtgaaacatct	6	5	3	2	rs142910026	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:3939163C>A	ENST00000228820.4	-	2	184	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	PARP11_ENST00000397096.2_Nonsense_Mutation_p.E7*|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	7							NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GAAAATAATTCTTCTGCTTTG	0.373																																																	0								T	stop/GLU	0,4406		0,0,2203	118	109	112		40	3.7	0.8	12	dbSNP_134	112	5,8595	2.2+/-6.3	0,5,4295	no	stop-gained	PARP11	NM_020367.4		0,5,6498	AA,AC,CC		0.0581,0.0,0.0384		14/339	3939163	5,13001	2203	4300	6503	SO:0001587	stop_gained	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.40G>T	12.37:g.3939163C>A	ENSP00000228820:p.Glu14*		B4DRQ0|Q68DS1|Q8N5Y9	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E14*	ENST00000228820.4	37	c.40	CCDS8523.2	12	.	.	.	.	.	.	.	.	.	.	c	14.83	2.652122	0.47362	0.0	5.81E-4	ENSG00000111224	ENST00000397096;ENST00000228820	.	.	.	5.52	3.73	0.42828	.	0.225697	0.37178	N	0.002201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.2726	0.43491	0.0:0.8418:0.0:0.1582	.	.	.	.	X	7;14	.	ENSP00000228820:E14X	E	-	1	0	PARP11	3809424	1.000000	0.71417	0.774000	0.31636	0.100000	0.18952	3.628000	0.54259	0.915000	0.36847	-0.213000	0.12676	GAA	PARP11	-	NULL		0.373	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	C			3939163	-1	no_errors	ENST00000228820	ensembl	human	known	70_37	nonsense	SNP	0.993	A	A	3939163	C	A	3939163	4	1	131	1	0	0	0	0	0	1	0	0	11480	922	32	3	1004	3	PARP11	12	3939163	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	17611	3939163	129912732	1280	21420										
C12orf4	57102	genome.wustl.edu	37	chr12	4627253	4627253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccactatatgaattaattCgattatctactagtaaaacc	3	8	1	1	rs532268400		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:4627253C>T	ENST00000261250.3	-	8	1091	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R335Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	335										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGAATTAATTCGATTATCTAC	0.328													C|||	1	0.000199681	8e-04	0	5008	,	,		15414	0		0	False		,,,				2504	0																0													89	96	93					12																	4627253		2203	4300	6503	SO:0001583	missense	57102			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1004G>A	12.37:g.4627253C>T	ENSP00000261250:p.Arg335Gln		D3DUQ8|Q6MZH5	Missense_Mutation	SNP	pfam_DUF2362	p.R335Q	ENST00000261250.3	37	c.1004	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.377359	0.95945	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.80489	-0.1360	9	0.59425	D	0.04	.	19.3523	0.94393	0.0:1.0:0.0:0.0	.	335	Q9NQ89	CL004_HUMAN	Q	335;335;162	.	ENSP00000261250:R335Q	R	-	2	0	C12orf4	4497514	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.742000	0.85008	2.635000	0.89317	0.650000	0.86243	CGA	C12orf4	-	pfam_DUF2362		0.328	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	C	NM_020374		4627253	-1	no_errors	ENST00000261250	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4627253	C	T	4627253	3	4	131	1	0	0	0	0	1	0	0	0	1689	884	31	1	682	1	C12orf4	12	4627253	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	688090	4627253	129224642	1281	21421										
AKAP3	10566	genome.wustl.edu	37	chr12	4736535	4736535	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacataaaattctcaggtttCtctggaggatatggaggaag	11	5	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:4736535C>A	ENST00000545990.2	-	5	2057	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.E511D	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	511					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTCAGGTTTCTCTGGAGGAT	0.488																																																	0													55	55	55					12																	4736535		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1533G>T	12.37:g.4736535C>A	ENSP00000440994:p.Glu511Asp		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.E511D	ENST00000545990.2	37	c.1533	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640662	0.29157	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.12984	2.63;2.63	5.65	1.62	0.23740	A-kinase anchor 110kDa, C-terminal (1);	0.088147	0.49305	D	0.000151	T	0.28134	0.0694	M	0.75264	2.295	0.19945	N	0.999942	D	0.71674	0.998	D	0.70227	0.968	T	0.03034	-1.1080	10	0.59425	D	0.04	-19.1692	3.9128	0.09210	0.0:0.4945:0.1735:0.3319	.	511	O75969	AKAP3_HUMAN	D	511	ENSP00000228850:E511D;ENSP00000440994:E511D	ENSP00000228850:E511D	E	-	3	2	AKAP3	4606796	0.051000	0.20477	0.599000	0.28851	0.257000	0.26127	0.276000	0.18716	0.867000	0.35654	0.655000	0.94253	GAG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4736535	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.267	A	A	4736535	C	A	4736535	3	1	131	1	0	0	0	0	1	0	0	0	452	912	32	3	1036	3	AKAP3	12	4736535	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	109282	4736535	129115360	1282	21422										
KCNA5	3741	genome.wustl.edu	37	chr12	5153773	5153773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggaccccgccaagcgcctgCgctacttcgaccccctgagg	12	18	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:5153773C>T	ENST00000252321.3	+	1	689	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	154				R -> P (in Ref. 1; AAA61276 and 2; AAA36422). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CAAGCGCCTGCGCTACTTCGA	0.657																																																	0													33	36	35					12																	5153773		2203	4300	6503	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.460C>T	12.37:g.5153773C>T	ENSP00000252321:p.Arg154Cys		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R154C	ENST00000252321.3	37	c.460	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898088	0.52227	.	.	ENSG00000130037	ENST00000252321	T	0.77358	-1.09	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.273419	0.26089	U	0.026410	D	0.86171	0.5869	M	0.82056	2.57	0.46798	D	0.999201	D	0.71674	0.998	D	0.63381	0.914	D	0.87759	0.2597	10	0.87932	D	0	.	11.9857	0.53147	0.1728:0.8271:0.0:0.0	.	154	P22460	KCNA5_HUMAN	C	154	ENSP00000252321:R154C	ENSP00000252321:R154C	R	+	1	0	KCNA5	5024034	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.924000	0.40065	2.443000	0.82685	0.511000	0.50034	CGC	KCNA5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.657	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	C	NM_002234		5153773	1	no_errors	ENST00000252321	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5153773	C	T	5153773	3	4	131	1	0	0	0	0	1	0	0	0	8026	768	27	2	462	2	KCNA5	12	5153773	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	417238	5153773	128698122	1283	21423										
VWF	7450	genome.wustl.edu	37	chr12	6138539	6138539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttcaggaccacggagatgCtcaggtggcggtcccagacc	14	13	2	2	rs267607312		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:6138539C>A	ENST00000261405.5	-	22	3190	c.2936G>T	c.(2935-2937)aGc>aTc	p.S979I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	979	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACGGAGATGCTCAGGTGGCG	0.552																																																	0													149	137	141					12																	6138539		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2936G>T	12.37:g.6138539C>A	ENSP00000261405:p.Ser979Ile		Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.S979I	ENST00000261405.5	37	c.2936	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501717	0.12822	.	.	ENSG00000110799	ENST00000261405	T	0.60672	0.17	4.58	-8.36	0.00980	von Willebrand factor, type D domain (3);	1.454950	0.04831	N	0.438814	T	0.54319	0.1851	M	0.72894	2.215	0.09310	N	0.999999	B	0.17465	0.022	B	0.21917	0.037	T	0.49485	-0.8935	10	0.45353	T	0.12	.	12.3276	0.55020	0.296:0.2048:0.4992:0.0	.	979	P04275	VWF_HUMAN	I	979	ENSP00000261405:S979I	ENSP00000261405:S979I	S	-	2	0	VWF	6008800	0.004000	0.15560	0.000000	0.03702	0.070000	0.16714	0.124000	0.15728	-1.918000	0.01072	-0.494000	0.04653	AGC	VWF	-	pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6138539	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	0.001	A	A	6138539	C	A	6138539	3	1	131	1	0	0	0	0	1	0	0	0	17277	797	28	4	5629	4	VWF	12	6138539	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	984766	6138539	127713356	1284	21424										
TNFRSF1A	7132	genome.wustl.edu	37	chr12	6442300	6442301	+	Missense_Mutation	DNP	CT	CT	AA													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcaggtgcacacggtgttCtgtttctcctggcctgtagg							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:6442300_6442301CT>AA	ENST00000162749.2	-	5	784_785	c.485_486AG>TT	c.(484-486)cAG>cTT	p.Q162L	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.Q119L|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.Q162L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	162					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACACGGTGTTCTGTTTCTCCTG	0.564																																																	0																																										SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.485_486delinsAA	12.37:g.6442300_6442301delinsAA	ENSP00000162749:p.Gln162Leu		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation|Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A|NULL	p.Q162H|p.R111*	ENST00000162749.2	37	c.486|c.331	CCDS8542.1	12																																																																																			TNFRSF1A	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg|NULL		0.564	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	C|T	NM_001065		6442300|6442301	-1	no_errors	ENST00000162749|ENST00000534885	ensembl	human	known	70_37	missense|nonsense	SNP	0.902|0.871	A	AA	6442301	CT	AA	6442300	3	1	131	1	0	0	0	0	1	0	0	0	16323	912	32	3	905	3	TNFRSF1A	12	6442300	Missense_Mutation	DNP	CT	TCGA-FU-A3HZ-01A-11D-A20U-09	303761	6442300	127409595	1285	21425										
NANOG	79923	genome.wustl.edu	37	chr12	7947426	7947426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaacatccagtcctggagcaAccactcctggaacactcaga	8	14	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:7947426A>G	ENST00000229307.4	+	4	872	c.653A>G	c.(652-654)aAc>aGc	p.N218S	NANOG_ENST00000526286.1_Missense_Mutation_p.N202S	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	218	8 X repeats starting with a Trp in each unit.|Sufficient for transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCTGGAGCAACCACTCCTGG	0.542																																																	0													4	4	4					12																	7947426		1814	3755	5569	SO:0001583	missense	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.653A>G	12.37:g.7947426A>G	ENSP00000229307:p.Asn218Ser		D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N218S	ENST00000229307.4	37	c.653	CCDS31736.1	12	.	.	.	.	.	.	.	.	.	.	A	9.048	0.991404	0.18966	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.91407	-2.84;-2.8	3.74	-2.93	0.05598	.	1.229440	0.05455	N	0.550190	D	0.82999	0.5159	L	0.34521	1.04	0.09310	N	1	B	0.25609	0.13	B	0.22152	0.038	T	0.68941	-0.5276	10	0.48119	T	0.1	-2.7458	5.1602	0.15056	0.3511:0.192:0.4569:0.0	.	218	Q9H9S0	NANOG_HUMAN	S	218;202	ENSP00000229307:N218S;ENSP00000435288:N202S	ENSP00000229307:N218S	N	+	2	0	NANOG	7838693	0.977000	0.34250	0.006000	0.13384	0.867000	0.49689	-0.368000	0.07543	-0.449000	0.07117	0.449000	0.29647	AAC	NANOG	-	NULL		0.542	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOG	HGNC	protein_coding	OTTHUMT00000387480.2	A	NM_024865		7947426	1	no_errors	ENST00000229307	ensembl	human	known	70_37	missense	SNP	0.004	G	G	7947426	A	G	7947426	3	3	131	1	0	0	0	0	1	0	0	0	10173	43	2	5	667	5	NANOG	12	7947426	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1505126	7947426	125904469	1286	21426										
FOXJ2	55810	genome.wustl.edu	37	chr12	8192701	8192701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagaagatgaccctcagcgaGatttaccgctggatctgtga	11	9	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:8192701G>T	ENST00000162391.3	+	2	1418	c.273G>T	c.(271-273)gaG>gaT	p.E91D	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E91D	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	91					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCCTCAGCGAGATTTACCGCT	0.498																																																	0													206	154	172					12																	8192701		2203	4300	6503	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.273G>T	12.37:g.8192701G>T	ENSP00000162391:p.Glu91Asp		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E91D	ENST00000162391.3	37	c.273	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518233	0.64634	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95885	-3.84;-3.84	5.14	5.14	0.70334	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	D	0.000002	D	0.91727	0.7384	N	0.17278	0.47	0.58432	D	0.999998	P;P	0.40970	0.573;0.734	B;B	0.43728	0.429;0.391	D	0.91044	0.4873	10	0.28530	T	0.3	.	16.1906	0.81987	0.0:0.0:1.0:0.0	.	91;91	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	D	91	ENSP00000162391:E91D;ENSP00000403411:E91D	ENSP00000162391:E91D	E	+	3	2	FOXJ2	8083968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.585000	0.60977	2.411000	0.81874	0.555000	0.69702	GAG	FOXJ2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.498	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	G	NM_018416		8192701	1	no_errors	ENST00000162391	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8192701	G	T	8192701	3	4	131	1	0	0	0	0	1	0	0	0	6030	933	33	3	275	3	FOXJ2	12	8192701	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	245275	8192701	125659194	1287	21427										
PHC1	1911	genome.wustl.edu	37	chr12	9089552	9089552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggttctgctccatgacttgCgctaagaggtactctgggca	12	10	2	2	rs142710389		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:9089552C>T	ENST00000543824.1	+	13	2801	c.2469C>T	c.(2467-2469)tgC>tgT	p.C823C	PHC1_ENST00000544916.1_Silent_p.C823C|PHC1_ENST00000536844.1_Silent_p.C429C|PHC1_ENST00000433083.2_Silent_p.C778C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	823					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCATGACTTGCGCTAAGAGGT	0.517																																																	0								C		0,4406		0,0,2203	100	80	87		2469	-9	0.4	12	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PHC1	NM_004426.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		823/1005	9089552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2469C>T	12.37:g.9089552C>T			D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.C823	ENST00000543824.1	37	c.2469	CCDS8597.1	12																																																																																			PHC1	-	pfam_Znf_MYM,pfscan_Znf_FCS		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	C	NM_004426		9089552	1	no_errors	ENST00000251757	ensembl	human	known	70_37	silent	SNP	0.918	T	T	9089552	C	T	9089552	2	4	131	1	0	0	0	0	0	0	0	1	11840	776	27	2		2	PHC1	12	9089552	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	896851	9089552	124762343	1288	21428										
MAGOHB	55110	genome.wustl.edu	37	chr12	10762486	10762486	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcatcttcttttgtaatttCactgtcatcaataattctct	2	9	7	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:10762486C>A	ENST00000320756.2	-	3	298	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	MAGOHB_ENST00000539554.1_Nonsense_Mutation_p.E24*|MAGOHB_ENST00000381881.2_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	70					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						TTTGTAATTTCACTGTCATCA	0.343																																																	0													121	122	121					12																	10762486		2203	4300	6503	SO:0001587	stop_gained	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.208G>T	12.37:g.10762486C>A	ENSP00000319240:p.Glu70*			Nonsense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.E70*	ENST00000320756.2	37	c.208	CCDS8628.1	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894379	0.91889	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.7455	0.77936	0.0:1.0:0.0:0.0	.	.	.	.	X	24;70	.	ENSP00000319240:E70X	E	-	1	0	MAGOHB	10653753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.836000	0.75349	2.844000	0.97970	0.591000	0.81541	GAA	MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi		0.343	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	C	NM_018048		10762486	-1	no_errors	ENST00000320756	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10762486	C	A	10762486	4	1	131	1	0	0	0	0	0	1	0	0	9218	835	29	3	250	3	MAGOHB	12	10762486	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1672934	10762486	123089409	1289	21429										
PRB3	5544	genome.wustl.edu	37	chr12	11420539	11420539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgaggtgggggaccttggGactggtttcctccttgtggg	18	8	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:11420539G>A	ENST00000279573.7	-	3	779	c.644C>T	c.(643-645)tCc>tTc	p.S215F	PRB3_ENST00000538488.1_Missense_Mutation_p.S194F|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	215	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.617																																																	0													85	90	88					12																	11420539		1480	3363	4843	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.644C>T	12.37:g.11420539G>A	ENSP00000279573:p.Ser215Phe		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.S194F	ENST00000279573.7	37	c.581		12	.	.	.	.	.	.	.	.	.	.	.	4.540	0.100267	0.08731	.	.	ENSG00000197870	ENST00000538488	T	0.04706	3.57	1.25	-2.5	0.06384	.	.	.	.	.	T	0.02418	0.0074	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.27887	0.084	T	0.31024	-0.9958	8	0.66056	D	0.02	.	0.7161	0.00932	0.1848:0.171:0.3577:0.2865	.	215	Q04118	PRB3_HUMAN	F	194	ENSP00000442626:S194F	ENSP00000279573:S215F	S	-	2	0	PRB3	11311806	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.020000	0.12525	-1.492000	0.01838	0.194000	0.17425	TCC	PRB3	-	NULL		0.617	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420539	-1	no_errors	ENST00000538488	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11420539	G	A	11420539	3	1	131	1	0	0	0	0	1	0	0	0	12471	1174	41	1	293	1	PRB3	12	11420539	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	658053	11420539	122431356	1290	21430										
PRB3	5544	genome.wustl.edu	37	chr12	11420602	11420602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgaggtgggggaccttggGactggtttcctccttgtggg	18	8	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:11420602G>A	ENST00000279573.7	-	3	716	c.581C>T	c.(580-582)tCc>tTc	p.S194F	PRB3_ENST00000538488.1_Missense_Mutation_p.S173F|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.S194F			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	194	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.627																																																	0													92	123	114					12																	11420602		1681	3739	5420	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.581C>T	12.37:g.11420602G>A	ENSP00000279573:p.Ser194Phe		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.S194F	ENST00000279573.7	37	c.581		12	.	.	.	.	.	.	.	.	.	.	.	4.963	0.178945	0.09443	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.04970	3.52;3.53	0.708	-1.42	0.08913	.	1.901040	0.04092	U	0.311486	T	0.04907	0.0132	.	.	.	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.40979	-0.9534	9	0.59425	D	0.04	.	1.956	0.03376	0.4371:0.0:0.3014:0.2616	.	194	Q04118	PRB3_HUMAN	F	194;173	ENSP00000371264:S194F;ENSP00000442626:S173F	ENSP00000279573:S194F	S	-	2	0	PRB3	11311869	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	0.283000	0.18846	-1.022000	0.03346	0.134000	0.15878	TCC	PRB3	-	NULL		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420602	-1	no_errors	ENST00000381842	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11420602	G	A	11420602	3	1	131	1	0	0	0	0	1	0	0	0	12471	1174	41	1	356	1	PRB3	12	11420602	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	63	11420602	122431293	1291	21431										
GPRC5D	55507	genome.wustl.edu	37	chr12	13095230	13095230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtaccatatgaagttaatgCtacatcctcctcagctccat	5	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13095230C>T	ENST00000228887.1	-	2	927	c.928G>A	c.(928-930)Gca>Aca	p.A310T	GPRC5D_ENST00000396333.3_Intron|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAAGTTAATGCTACATCCTCC	0.507																																																	0													172	148	156					12																	13095230		2203	4300	6503	SO:0001583	missense	55507			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.928G>A	12.37:g.13095230C>T	ENSP00000228887:p.Ala310Thr		Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	pfam_GPCR_3_C	p.A310T	ENST00000228887.1	37	c.928	CCDS8658.1	12	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188671	0.21954	.	.	ENSG00000111291	ENST00000228887	T	0.23147	1.92	5.92	5.03	0.67393	.	0.295633	0.29668	N	0.011518	T	0.12178	0.0296	N	0.17082	0.46	0.80722	D	1	B	0.27997	0.197	B	0.25884	0.064	T	0.13953	-1.0490	10	0.09084	T	0.74	.	7.0099	0.24857	0.1729:0.7422:0.0:0.0849	.	310	Q9NZD1	GPC5D_HUMAN	T	310	ENSP00000228887:A310T	ENSP00000228887:A310T	A	-	1	0	GPRC5D	12986497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.533000	0.36040	2.813000	0.96785	0.591000	0.81541	GCA	GPRC5D	-	NULL		0.507	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5D	HGNC	protein_coding	OTTHUMT00000400687.1	C			13095230	-1	no_errors	ENST00000228887	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13095230	C	T	13095230	3	4	131	1	0	0	0	0	1	0	0	0	6747	797	28	4	115	4	GPRC5D	12	13095230	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1674628	13095230	120756665	1292	21432										
KIAA1467	57613	genome.wustl.edu	37	chr12	13233558	13233558	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgataactctttttccataGatctaatctgatggaatctt	5	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13233558G>T	ENST00000197268.8	+	13	1983		c.e13-1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTTTCCATAGATCTAATCTG	0.368																																																	0													92	85	87					12																	13233558		2203	4300	6503	SO:0001630	splice_region_variant	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1864-1G>T	12.37:g.13233558G>T			Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	-	e13-1	ENST00000197268.8	37	c.1864-1	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396746	0.25205	.	.	ENSG00000084444	ENST00000197268	.	.	.	4.91	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.32906	D	0.513836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1498	0.48451	0.0:0.1857:0.8143:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1467	13124825	0.538000	0.26394	0.008000	0.14137	0.136000	0.21042	1.861000	0.39438	1.271000	0.44313	0.555000	0.69702	.	KIAA1467	-	-		0.368	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	G	NM_020853	Intron	13233558	1	no_errors	ENST00000197268	ensembl	human	known	70_37	splice_site	SNP	0.022	T	T	13233558	G	T	13233558	5	4	131	1	0	0	0	0	0	0	1	0	8255	956	33	3	1913	3	KIAA1467	12	13233558	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	138328	13233558	120618337	1293	21433										
C12orf36	283422	genome.wustl.edu	37	chr12	13526193	13526193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcctcacatcttcctcaattTtctgcttctttttctcaatt	2	13	6	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13526193T>G	ENST00000318426.2	-	3	579	c.362A>C	c.(361-363)aAa>aCa	p.K121T	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.K121T					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TTCCTCAATTTTCTGCTTCTT	0.423																																																	0													222	208	213					12																	13526193		2203	4300	6503	SO:0001583	missense	283422			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.362A>C	12.37:g.13526193T>G	ENSP00000443007:p.Lys121Thr			Missense_Mutation	SNP	NULL	p.K121T	ENST00000318426.2	37	c.362		12	.	.	.	.	.	.	.	.	.	.	T	7.812	0.715997	0.15306	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.30182	1.54;1.54	3.96	2.77	0.32553	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.20174	-1.0283	8	0.87932	D	0	.	6.3675	0.21463	0.2456:0.0:0.0:0.7544	.	121	Q495D7	CL036_HUMAN	T	121	ENSP00000443007:K121T;ENSP00000443346:K121T	ENSP00000443007:K121T	K	-	2	0	C12orf36	13417460	0.061000	0.20836	0.002000	0.10522	0.097000	0.18754	1.459000	0.35234	0.831000	0.34780	0.533000	0.62120	AAA	C12orf36	-	NULL		0.423	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	T	NM_182558		13526193	-1	no_errors	ENST00000318426	ensembl	human	known	70_37	missense	SNP	0.003	G	G	13526193	T	G	13526193	3	3	131	1	0	0	0	0	1	0	0	0	1687	1841	64	5	58	5	C12orf36	12	13526193	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	292635	13526193	120325702	1294	21434										
PTPRO	5800	genome.wustl.edu	37	chr12	15718545	15718545	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagtaaaaatggtttaaaGaagaggaaactgacaaagta	11	2	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:15718545G>T	ENST00000281171.4	+	18	3060	c.2730G>T	c.(2728-2730)aaG>aaT	p.K910N	PTPRO_ENST00000544244.1_Missense_Mutation_p.K71N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K882N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K99N|PTPRO_ENST00000542557.1_Missense_Mutation_p.K71N|PTPRO_ENST00000445537.2_Missense_Mutation_p.K99N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	910					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGGTTTAAAGAAGAGGAAAC	0.254																																																	0													56	63	61					12																	15718545		2201	4292	6493	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2730G>T	12.37:g.15718545G>T	ENSP00000281171:p.Lys910Asn		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K910N	ENST00000281171.4	37	c.2730	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616305	0.66672	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.05319	3.46;3.8;3.53;3.71;3.53;3.71	5.14	4.25	0.50352	.	0.000000	0.52532	D	0.000066	T	0.13457	0.0326	N	0.24115	0.695	0.53005	D	0.999969	B;D;D	0.89917	0.372;1.0;1.0	B;D;D	0.83275	0.067;0.996;0.991	T	0.10132	-1.0643	10	0.44086	T	0.13	.	14.0085	0.64481	0.0737:0.0:0.9263:0.0	.	71;882;910	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	N	910;882;99;71;99;71	ENSP00000281171:K910N;ENSP00000343434:K882N;ENSP00000404188:K99N;ENSP00000437571:K71N;ENSP00000393449:K99N;ENSP00000439234:K71N	ENSP00000281171:K910N	K	+	3	2	PTPRO	15609812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.366000	0.73095	1.537000	0.49254	0.655000	0.94253	AAG	PTPRO	-	NULL		0.254	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	G			15718545	1	no_errors	ENST00000281171	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15718545	G	T	15718545	3	4	131	1	0	0	0	0	1	0	0	0	12839	933	33	3	2800	3	PTPRO	12	15718545	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2192352	15718545	118133350	1295	21435										
PIK3C2G	5288	genome.wustl.edu	37	chr12	18435082	18435082	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaagcagtatgaacaccaaGaatttctctttgtaaatcaa	5	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:18435082G>T	ENST00000266497.5	+	1	105	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.E23*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	23					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E23*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAACACCAAGAATTTCTCTT	0.388																																																	2	Substitution - Nonsense(2)	large_intestine(2)											63	59	60					12																	18435082		1856	4097	5953	SO:0001587	stop_gained	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.67G>T	12.37:g.18435082G>T	ENSP00000266497:p.Glu23*		A1L3U0	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E23*	ENST00000266497.5	37	c.67	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728127	0.69074	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.37	2.34	0.29019	.	0.855669	0.10069	N	0.719903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.0495	11.1691	0.48560	0.0:0.4828:0.5172:0.0	.	.	.	.	X	23	.	ENSP00000266497:E23X	E	+	1	0	PIK3C2G	18326349	0.027000	0.19231	0.014000	0.15608	0.447000	0.32167	1.490000	0.35573	0.630000	0.30394	0.655000	0.94253	GAA	PIK3C2G	-	NULL		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18435082	1	no_errors	ENST00000538779	ensembl	human	known	70_37	nonsense	SNP	0.021	T	T	18435082	G	T	18435082	4	4	131	1	0	0	0	0	0	1	0	0	11935	943	33	3	69	3	PIK3C2G	12	18435082	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2716537	18435082	115416813	1296	21436										
PIK3C2G	5288	genome.wustl.edu	37	chr12	18576946	18576946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actccaccgctccttgcagaGcatccaggttgcccatcgtc	8	17	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:18576946G>A	ENST00000266497.5	+	16	2392	c.2354G>A	c.(2353-2355)aGc>aAc	p.S785N	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S826N|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S785N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	785	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCTTGCAGAGCATCCAGGTT	0.443																																																	0													71	67	69					12																	18576946		1883	4123	6006	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2354G>A	12.37:g.18576946G>A	ENSP00000266497:p.Ser785Asn		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S826N	ENST00000266497.5	37	c.2477	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085999	0.36758	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.57907	0.37;0.37;0.37	4.52	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.055227	0.64402	D	0.000001	T	0.34513	0.0900	N	0.05608	-0.01	0.48185	D	0.999601	P;P;P	0.43701	0.815;0.778;0.815	B;B;B	0.42916	0.402;0.28;0.38	T	0.10520	-1.0626	10	0.17369	T	0.5	-16.1954	15.5695	0.76323	0.0:0.0:1.0:0.0	.	825;826;785	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	785;785;826	ENSP00000404845:S785N;ENSP00000266497:S785N;ENSP00000445381:S826N	ENSP00000266497:S785N	S	+	2	0	PIK3C2G	18468213	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	4.860000	0.62961	2.805000	0.96524	0.460000	0.39030	AGC	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.443	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18576946	1	no_errors	ENST00000538779	ensembl	human	known	70_37	missense	SNP	0.999	A	A	18576946	G	A	18576946	3	1	131	1	0	0	0	0	1	0	0	0	11935	971	34	4	2416	4	PIK3C2G	12	18576946	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	141864	18576946	115274949	1297	21437										
PLCZ1	89869	genome.wustl.edu	37	chr12	18854471	18854471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcattactccaggtaacttTtttacccctgtttccttgtc	5	12	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:18854471T>G	ENST00000538330.1	-	5	708	c.327A>C	c.(325-327)aaA>aaC	p.K109N	PLCZ1_ENST00000541695.1_Missense_Mutation_p.K190N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K132N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.K134N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.K325N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K327N					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGGTAACTTTTTTACCCCTG	0.378																																																	0													135	139	137					12																	18854471		2202	4300	6502	SO:0001583	missense	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.327A>C	12.37:g.18854471T>G	ENSP00000445880:p.Lys109Asn			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K327N	ENST00000538330.1	37	c.981		12	.	.	.	.	.	.	.	.	.	.	T	9.065	0.995429	0.19043	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.75477	2.75;0.66;0.66;-0.03;0.66;-0.03;-0.03;0.66;-0.94	4.99	-3.52	0.04682	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	1.255140	0.05147	N	0.495385	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.16722	0.015;0.016	T	0.33803	-0.9854	10	0.24483	T	0.36	.	6.4138	0.21705	0.0:0.4403:0.1515:0.4082	.	327;109	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	N	109;327;325;132;190;134;62;68;154	ENSP00000445880:K109N;ENSP00000266505:K327N;ENSP00000402358:K325N;ENSP00000400504:K132N;ENSP00000443349:K190N;ENSP00000445026:K134N;ENSP00000445889:K62N;ENSP00000443762:K68N;ENSP00000438629:K154N	ENSP00000266505:K327N	K	-	3	2	PLCZ1	18745738	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.246000	0.08878	-0.574000	0.05990	0.455000	0.32223	AAA	PLCZ1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	T	NM_033123		18854471	-1	no_errors	ENST00000266505	ensembl	human	known	70_37	missense	SNP	0.000	G	G	18854471	T	G	18854471	3	3	131	1	0	0	0	0	1	0	0	0	12068	1838	64	5	873	5	PLCZ1	12	18854471	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	277525	18854471	114997424	1298	21438										
PLEKHA5	54477	genome.wustl.edu	37	chr12	19506935	19506935	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagatgatggatctaagaaCggtatttaactggaaattaa	10	3	1	3	rs572731528		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:19506935C>T	ENST00000299275.6	+	20	2645	c.2639C>T	c.(2638-2640)aCg>aTg	p.T880M	PLEKHA5_ENST00000355397.3_Splice_Site_p.T938M|PLEKHA5_ENST00000543806.1_Splice_Site_p.T862M|PLEKHA5_ENST00000317589.4_Splice_Site_p.T943M|PLEKHA5_ENST00000429027.2_Splice_Site_p.T1046M|PLEKHA5_ENST00000539256.1_Splice_Site_p.T638M|PLEKHA5_ENST00000538714.1_Splice_Site_p.T938M|PLEKHA5_ENST00000424268.1_Splice_Site_p.T869M|PLEKHA5_ENST00000359180.3_Splice_Site_p.T824M	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	880					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTAAGAACGGTATTTAAC	0.348													C|||	1	0.000199681	0	0	5008	,	,		12907	0.001		0	False		,,,				2504	0				Pancreas(196;329 2193 11246 14234 19524)												0													95	90	92					12																	19506935		2203	4300	6503	SO:0001630	splice_region_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2640+1C>T	12.37:g.19506935C>T			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.T943M	ENST00000299275.6	37	c.2828	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767045	0.49574	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.30448	2.82;2.82;1.53;2.82;2.82;2.82;2.82;2.82;2.82;2.82;1.53	5.04	4.12	0.48240	.	0.437819	0.21360	N	0.075816	T	0.48960	0.1529	L	0.54323	1.7	0.34903	D	0.746692	D;D;P;D;D;D;D;D	0.89917	1.0;0.971;0.952;1.0;0.991;0.985;1.0;1.0	D;P;B;D;P;P;D;D	0.81914	0.995;0.507;0.31;0.97;0.492;0.625;0.964;0.984	T	0.60835	-0.7184	10	0.52906	T	0.07	-7.9315	12.6542	0.56778	0.0:0.9167:0.0:0.0833	.	943;862;869;1041;824;1046;880;938	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	M	943;938;824;1042;1046;880;638;938;869;862;835;161	ENSP00000325155:T943M;ENSP00000347560:T938M;ENSP00000352104:T824M;ENSP00000404296:T1046M;ENSP00000299275:T880M;ENSP00000440611:T638M;ENSP00000439673:T938M;ENSP00000400411:T869M;ENSP00000439837:T862M;ENSP00000440371:T835M;ENSP00000443553:T161M	ENSP00000299275:T880M	T	+	2	0	PLEKHA5	19398202	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	2.092000	0.41700	1.047000	0.40274	0.454000	0.30748	ACG	PLEKHA5	-	NULL		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012	Missense_Mutation	19506935	1	no_errors	ENST00000317589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19506935	C	T	19506935	5	4	131	1	0	0	0	0	0	0	1	0	12083	550	19	2	3035	2	PLEKHA5	12	19506935	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	652464	19506935	114344960	1299	21439										
PDE3A	5139	genome.wustl.edu	37	chr12	20799820	20799820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcgctgtatgtggctgcagCcatgcacgattatgatcatc	12	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:20799820C>A	ENST00000359062.3	+	12	2541	c.2501C>A	c.(2500-2502)gCc>gAc	p.A834D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	834	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GTGGCTGCAGCCATGCACGAT	0.413																																																	0													168	157	161					12																	20799820		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2501C>A	12.37:g.20799820C>A	ENSP00000351957:p.Ala834Asp		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A834D	ENST00000359062.3	37	c.2501	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.203851	0.95033	.	.	ENSG00000172572	ENST00000359062	T	0.78481	-1.18	5.85	5.85	0.93711	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.104467	0.64402	D	0.000003	D	0.92054	0.7482	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93408	0.6766	10	0.87932	D	0	.	20.1612	0.98133	0.0:1.0:0.0:0.0	.	834	Q14432	PDE3A_HUMAN	D	834	ENSP00000351957:A834D	ENSP00000351957:A834D	A	+	2	0	PDE3A	20691087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.766000	0.95052	0.643000	0.83706	GCC	PDE3A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20799820	1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20799820	C	A	20799820	3	1	131	1	0	0	0	0	1	0	0	0	11661	739	26	4	2547	4	PDE3A	12	20799820	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1292885	20799820	113052075	1300	21440										
SLCO1B3	28234	genome.wustl.edu	37	chr12	21028281	21028281	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ataccattttttttcttgccGaaaaatccaaataaaccaca	2	10	1	0	rs555631927		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21028281G>A	ENST00000381545.3	+	9	1059	c.840G>A	c.(838-840)ccG>ccA	p.P280P	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.P280P|LST3_ENST00000540229.1_Silent_p.P280P|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.P280P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	280					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.P280P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTCTTGCCGAAAAATCCAA	0.358													.|||	1	0.000199681	0	0	5008	,	,		16452	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)											115	112	113					12																	21028281		2203	4300	6503	SO:0001819	synonymous_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.840G>A	12.37:g.21028281G>A			E7EMT8|Q5JAR4	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P280	ENST00000381545.3	37	c.840	CCDS8684.1	12																																																																																			SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	G	NM_019844		21028281	1	no_errors	ENST00000553473	ensembl	human	known	70_37	silent	SNP	0.016	A	A	21028281	G	A	21028281	2	1	131	1	0	0	0	0	0	0	0	1	14754	1045	37	1		1	SLCO1B3	12	21028281	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	228461	21028281	112823614	1301	21441										
LST-3TM12	338821	genome.wustl.edu	37	chr12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttaattgatggaagcttcGaaataggtagctttttattt	9	3	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21168708G>A	ENST00000421593.2	+	1	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E27K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAAGCTTCGAAATAGGTAG	0.308																																																	1	Substitution - Missense(1)	skin(1)											75	75	75					12																	21168708		2144	4285	6429	SO:0001583	missense	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.79G>A	12.37:g.21168708G>A	ENSP00000394168:p.Glu27Lys		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E27K	ENST00000421593.2	37	c.79	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	14.97	2.693658	0.48202	.	.	ENSG00000205754	ENST00000421593	T	0.52295	0.67	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81623	-0.0849	10	0.87932	D	0	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	27	G3V0H7	.	K	27	ENSP00000394168:E27K	ENSP00000394168:E27K	E	+	1	0	SLCO1B7	21059975	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	8.346000	0.90060	1.476000	0.48215	0.407000	0.27541	GAA	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	G	NM_001009562		21168708	1	no_errors	ENST00000421593	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21168708	G	A	21168708	3	1	131	1	0	0	0	0	1	0	0	0	9089	1059	37	1	81	1	LST-3TM12	12	21168708	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	140427	21168708	112683187	1302	21442										
RECQL	5965	genome.wustl.edu	37	chr12	21643286	21643286	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagacattttgcagaatatCtttaactttaccagaccatg	5	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21643286C>A	ENST00000444129.2	-	4	709	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	RECQL_ENST00000421138.2_Missense_Mutation_p.D81Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	81					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCAGAATATCTTTAACTTTA	0.328								Other identified genes with known or suspected DNA repair function																																									0													73	76	75					12																	21643286		2203	4300	6503	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.241G>T	12.37:g.21643286C>A	ENSP00000416739:p.Asp81Tyr		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.D81Y	ENST00000444129.2	37	c.241	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987163	0.35036	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.18;-0.18;-0.18;0.88	5.29	3.44	0.39384	.	0.501697	0.22648	N	0.057364	T	0.69124	0.3076	M	0.64997	1.995	0.30208	N	0.797994	B	0.18013	0.025	B	0.14023	0.01	T	0.66881	-0.5811	10	0.62326	D	0.03	-17.6064	9.4294	0.38601	0.0:0.7456:0.1189:0.1355	.	81	P46063	RECQ1_HUMAN	Y	81	ENSP00000416739:D81Y;ENSP00000395449:D81Y;ENSP00000379400:D81Y;ENSP00000318727:D81Y;ENSP00000445555:D81Y;ENSP00000439069:D81Y	ENSP00000318727:D81Y	D	-	1	0	RECQL	21534553	0.977000	0.34250	1.000000	0.80357	0.985000	0.73830	1.576000	0.36504	0.694000	0.31654	-0.157000	0.13467	GAT	RECQL	-	tigrfam_DNA_helicase_ATP-dep_RecQ		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	C	NM_002907		21643286	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	missense	SNP	0.676	A	A	21643286	C	A	21643286	3	1	131	1	0	0	0	0	1	0	0	0	13231	913	32	3	1756	3	RECQL	12	21643286	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	474578	21643286	112208609	1303	21443										
C12orf39	80763	genome.wustl.edu	37	chr12	21684079	21684079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttcttacagatgaagaaAaaaactttgatcaaaccaga	5	6	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21684079A>C	ENST00000256969.2	+	6	467	c.301A>C	c.(301-303)Aaa>Caa	p.K101Q	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		101					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGATGAAGAAAAAAACTTTGA	0.289																																																	0													51	51	51					12																	21684079		2201	4294	6495	SO:0001583	missense	80763																														ENST00000256969.2:c.301A>C	12.37:g.21684079A>C	ENSP00000256969:p.Lys101Gln		B3KND6	Missense_Mutation	SNP	NULL	p.K101Q	ENST00000256969.2	37	c.301	CCDS31757.1	12	.	.	.	.	.	.	.	.	.	.	a	11.44	1.638478	0.29157	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.88	3.06	0.35304	.	0.699661	0.14121	N	0.340011	T	0.17450	0.0419	N	0.08118	0	0.19300	N	0.999976	B	0.27416	0.178	B	0.25140	0.058	T	0.21177	-1.0253	9	0.24483	T	0.36	-2.5708	8.078	0.30729	0.1924:0.0:0.8076:0.0	.	101	Q9BT56	SPXN_HUMAN	Q	101	.	ENSP00000256969:K101Q	K	+	1	0	C12orf39	21575346	1.000000	0.71417	0.923000	0.36655	0.812000	0.45895	3.525000	0.53502	0.650000	0.30769	-0.247000	0.11927	AAA	C12orf39	-	NULL		0.289	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf39	HGNC	protein_coding	OTTHUMT00000402389.1	A			21684079	1	no_errors	ENST00000256969	ensembl	human	known	70_37	missense	SNP	0.837	C	C	21684079	A	C	21684079	3	2	131	1	0	0	0	0	1	0	0	0	1688	15	1	5	323	5	C12orf39	12	21684079	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	40793	21684079	112167816	1304	21444										
KIAA0528	9847	genome.wustl.edu	37	chr12	22677465	22677465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgcccttggtgtgcgaattCgatcaatccactgatattct	8	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:22677465C>T	ENST00000333957.4	-	6	797	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	C2CD5_ENST00000545552.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000396028.2_Missense_Mutation_p.R181Q|C2CD5_ENST00000536386.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000446597.1_Missense_Mutation_p.R181Q	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	181					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.R181Q(2)									TGTGCGAATTCGATCAATCCA	0.368																																																	2	Substitution - Missense(2)	large_intestine(2)											134	120	125					12																	22677465		2203	4300	6503	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.542G>A	12.37:g.22677465C>T	ENSP00000334229:p.Arg181Gln		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R181Q	ENST00000333957.4	37	c.542	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939001	0.92526	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.95	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.48484	0.1502	L	0.48642	1.525	0.80722	D	1	D;P;P;D;P	0.69078	0.963;0.827;0.899;0.997;0.719	B;B;B;P;B	0.53722	0.432;0.119;0.17;0.733;0.119	T	0.51340	-0.8718	10	0.54805	T	0.06	-8.7416	14.6419	0.68732	0.146:0.854:0.0:0.0	.	181;181;181;181;181	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	Q	181	ENSP00000334229:R181Q;ENSP00000388756:R181Q;ENSP00000439392:R181Q;ENSP00000379345:R181Q;ENSP00000441951:R181Q;ENSP00000443204:R181Q	ENSP00000334229:R181Q	R	-	2	0	KIAA0528	22568732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	2.306000	0.77630	0.585000	0.79938	CGA	KIAA0528	-	NULL		0.368	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0528	HGNC	protein_coding	OTTHUMT00000402257.1	C	NM_014802		22677465	-1	no_errors	ENST00000333957	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22677465	C	T	22677465	3	4	131	1	0	0	0	0	1	0	0	0	8202	884	31	1	2540	1	KIAA0528	12	22677465	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	993386	22677465	111174430	1305	21445										
RASSF8	11228	genome.wustl.edu	37	chr12	26217828	26217828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaacagcagatgagttgaaGaagctaatccgtctgcagac	10	9	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:26217828G>T	ENST00000405154.2	+	3	700	c.501G>T	c.(499-501)aaG>aaT	p.K167N	RASSF8_ENST00000381352.3_Missense_Mutation_p.K167N|RASSF8_ENST00000282884.9_Missense_Mutation_p.K167N|RASSF8_ENST00000541490.1_Missense_Mutation_p.K167N|RASSF8_ENST00000542865.1_Missense_Mutation_p.K167N	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	167					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGAGTTGAAGAAGCTAATCC	0.368																																																	0													63	64	64					12																	26217828		2203	4300	6503	SO:0001583	missense	11228			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.501G>T	12.37:g.26217828G>T	ENSP00000384491:p.Lys167Asn		A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.K167N	ENST00000405154.2	37	c.501	CCDS53765.1	12	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036456	0.19669	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000541218;ENST00000282884	T;T;T;T;T;T;T	0.43688	1.55;1.56;1.56;1.56;0.94;0.94;1.56	4.79	2.89	0.33648	.	0.601929	0.18912	N	0.127726	T	0.29126	0.0724	L	0.36672	1.1	0.37172	D	0.903097	B;B	0.23990	0.095;0.037	B;B	0.18871	0.023;0.011	T	0.15521	-1.0434	10	0.17832	T	0.49	-15.9075	10.3213	0.43767	0.1753:0.0:0.8247:0.0	.	167;167	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	N	167	ENSP00000370756:K167N;ENSP00000384491:K167N;ENSP00000439839:K167N;ENSP00000443096:K167N;ENSP00000442485:K167N;ENSP00000445970:K167N;ENSP00000282884:K167N	ENSP00000282884:K167N	K	+	3	2	RASSF8	26109095	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.053000	0.64269	1.127000	0.42034	0.563000	0.77884	AAG	RASSF8	-	NULL		0.368	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF8	HGNC	protein_coding	OTTHUMT00000402209.2	G	NM_007211		26217828	1	no_errors	ENST00000282884	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26217828	G	T	26217828	3	4	131	1	0	0	0	0	1	0	0	0	13122	933	33	3	507	3	RASSF8	12	26217828	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3540363	26217828	107634067	1306	21446										
TM7SF3	51768	genome.wustl.edu	37	chr12	27127096	27127096	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagaacggtcgtcctctctcTcttcgaatctgtaacgtaat	7	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:27127096T>G	ENST00000343028.4	-	12	1740	c.1515A>C	c.(1513-1515)agA>agC	p.R505S	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	505						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GTCCTCTCTCTCTTCGAATCT	0.458																																																	0													104	94	97					12																	27127096		2203	4300	6503	SO:0001583	missense	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1515A>C	12.37:g.27127096T>G	ENSP00000342322:p.Arg505Ser		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.R505S	ENST00000343028.4	37	c.1515	CCDS8710.1	12	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090954	0.55968	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.32988	1.43	5.58	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.34521	1.04	0.58432	D	0.999991	P	0.46621	0.881	B	0.43251	0.413	T	0.02437	-1.1159	10	0.59425	D	0.04	-20.5015	8.6857	0.34236	0.0:0.211:0.0:0.789	.	505	Q9NS93	TM7S3_HUMAN	S	505;219	ENSP00000342322:R505S	ENSP00000342322:R505S	R	-	3	2	TM7SF3	27018363	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.222000	0.32515	1.056000	0.40484	0.533000	0.62120	AGA	TM7SF3	-	NULL		0.458	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	T	NM_016551		27127096	-1	no_errors	ENST00000343028	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27127096	T	G	27127096	3	3	131	1	0	0	0	0	1	0	0	0	16005	1548	54	5	201	5	TM7SF3	12	27127096	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	909268	27127096	106724799	1307	21447										
C12orf72	254013	genome.wustl.edu	37	chr12	31815034	31815034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggaccctgagataaaggcTttcctggaggagaacactga	12	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:31815034T>C	ENST00000357721.3	+	2	362	c.147T>C	c.(145-147)gcT>gcC	p.A49A	METTL20_ENST00000538463.1_Silent_p.A49A|METTL20_ENST00000412352.2_Silent_p.A49A|METTL20_ENST00000395763.3_Silent_p.A49A|METTL20_ENST00000538391.1_Silent_p.A49A	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	49						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						AGATAAAGGCTTTCCTGGAGG	0.542																																																	0													102	99	100					12																	31815034		2203	4300	6503	SO:0001819	synonymous_variant	254013			BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"chromosome 12 open reading frame 72"	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.147T>C	12.37:g.31815034T>C			D3DUW3	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like	p.A49	ENST00000357721.3	37	c.147	CCDS8724.1	12																																																																																			METTL20	-	NULL		0.542	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	METTL20	HGNC	protein_coding	OTTHUMT00000402196.1	T	NM_173802		31815034	1	no_errors	ENST00000357721	ensembl	human	known	70_37	silent	SNP	0.829	C	C	31815034	T	C	31815034	2	2	131	1	0	0	0	0	0	0	0	1	1717	1596	56	5		5	C12orf72	12	31815034	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4687938	31815034	102036861	1308	21448										
C12orf35	55196	genome.wustl.edu	37	chr12	32137827	32137827	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtaataaaatgacagcatCttatgaacaagcttctcagg	7	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:32137827C>A	ENST00000312561.4	+	4	4352	c.3938C>A	c.(3937-3939)tCt>tAt	p.S1313Y	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1313																	ATGACAGCATCTTATGAACAA	0.348																																																	0													80	83	82					12																	32137827		2203	4300	6503	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3938C>A	12.37:g.32137827C>A	ENSP00000310338:p.Ser1313Tyr		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.S1313Y	ENST00000312561.4	37	c.3938	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.622104	0.00820	.	.	ENSG00000174718	ENST00000312561	T	0.13901	2.55	3.76	-1.21	0.09524	.	0.757332	0.11679	N	0.540038	T	0.06096	0.0158	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.19391	0.025	T	0.39663	-0.9603	9	.	.	.	.	1.0198	0.01515	0.1361:0.2575:0.2174:0.3889	.	1313	Q9HCM1	CL035_HUMAN	Y	1313	ENSP00000310338:S1313Y	.	S	+	2	0	C12orf35	32029094	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.202000	0.09451	0.227000	0.20999	-0.253000	0.11424	TCT	KIAA1551	-	NULL		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	C	NM_018169		32137827	1	no_errors	ENST00000312561	ensembl	human	known	70_37	missense	SNP	0.000	A	A	32137827	C	A	32137827	3	1	131	1	0	0	0	0	1	0	0	0	1686	913	32	3	3940	3	C12orf35	12	32137827	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	322793	32137827	101714068	1309	21449										
SLC2A13	114134	genome.wustl.edu	37	chr12	40422238	40422238	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctttctgaataagccatcGagggctttcaggcaaaaaga	9	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:40422238G>A	ENST00000280871.4	-	3	840	c.790C>T	c.(790-792)Cga>Tga	p.R264*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.R264*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	264					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATAAGCCATCGAGGGCTTTCA	0.418										HNSCC(50;0.14)																																							0													97	100	99					12																	40422238		2203	4300	6503	SO:0001587	stop_gained	114134			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.790C>T	12.37:g.40422238G>A	ENSP00000280871:p.Arg264*		Q17S07	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R264*	ENST00000280871.4	37	c.790	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	G	40	8.030359	0.98619	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	.	.	.	5.54	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.182	15.1032	0.72299	0.0:0.0:0.7445:0.2555	.	.	.	.	X	264	.	ENSP00000280871:R264X	R	-	1	2	SLC2A13	38708505	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.304000	0.78882	1.436000	0.47453	0.591000	0.81541	CGA	SLC2A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.418	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	G			40422238	-1	no_errors	ENST00000280871	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	40422238	G	A	40422238	4	1	131	1	0	0	0	0	0	1	0	0	14572	1066	37	1	1188	1	SLC2A13	12	40422238	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8284411	40422238	93429657	1310	21450										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43771257	43771257	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaaggcaccacagggcattCttgataaactataggccgaa	11	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:43771257C>A	ENST00000389420.3	-	32	4905	c.4906G>T	c.(4906-4908)Gaa>Taa	p.E1636*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1636	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAGGGCATTCTTGATAAACT	0.433																																																	0													131	119	123					12																	43771257		2203	4300	6503	SO:0001587	stop_gained	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4906G>T	12.37:g.43771257C>A	ENSP00000374071:p.Glu1636*		A6NNC9|J3QT00	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1636*	ENST00000389420.3	37	c.4906	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	40	8.241230	0.98722	.	.	ENSG00000173157	ENST00000389420	.	.	.	5.08	4.18	0.49190	.	0.243646	0.28021	N	0.016918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	10.0295	0.42092	0.0:0.7873:0.1391:0.0736	.	.	.	.	X	1636	.	ENSP00000374071:E1636X	E	-	1	0	ADAMTS20	42057524	0.989000	0.36119	0.975000	0.42487	0.126000	0.20510	1.476000	0.35420	1.440000	0.47531	0.655000	0.94253	GAA	ADAMTS20	-	superfamily_Thrombospondin_1_rpt		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43771257	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	43771257	C	A	43771257	4	1	131	1	0	0	0	0	0	1	0	0	266	922	32	3	857	3	ADAMTS20	12	43771257	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3349019	43771257	90080638	1311	21451										
NELL2	4753	genome.wustl.edu	37	chr12	45000955	45000955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaaatgatattcttacccgTttcacagctgggtccagtga	9	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:45000955T>A	ENST00000429094.2	-	15	2164	c.1660A>T	c.(1660-1662)Acg>Tcg	p.T554S	NELL2_ENST00000551601.1_Missense_Mutation_p.T553S|NELL2_ENST00000452445.2_Missense_Mutation_p.T554S|NELL2_ENST00000333837.4_Missense_Mutation_p.T577S|NELL2_ENST00000437801.2_Missense_Mutation_p.T604S|NELL2_ENST00000395487.2_Missense_Mutation_p.T553S|NELL2_ENST00000549027.1_Missense_Mutation_p.T553S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	554						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTCTTACCCGTTTCACAGCTG	0.403																																																	0													69	68	68					12																	45000955		2203	4299	6502	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1660A>T	12.37:g.45000955T>A	ENSP00000390680:p.Thr554Ser		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.T604S	ENST00000429094.2	37	c.1810	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826423	0.50739	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;D;D;D;D;D;D	0.95622	-2.26;-2.26;-2.91;-2.26;-2.26;-3.76;-2.26	5.77	4.62	0.57501	.	0.095098	0.64402	D	0.000001	D	0.91109	0.7201	L	0.46567	1.45	0.42490	D	0.992892	P;B;B;B;B	0.37441	0.595;0.085;0.059;0.049;0.021	B;B;B;B;B	0.34931	0.192;0.022;0.021;0.021;0.023	D	0.87197	0.2238	10	0.15952	T	0.53	.	9.3642	0.38215	0.0:0.1384:0.0:0.8616	.	577;604;553;554;553	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	S	553;554;553;554;553;577;604;553	ENSP00000378866:T553S;ENSP00000390680:T554S;ENSP00000449332:T553S;ENSP00000394612:T554S;ENSP00000447927:T553S;ENSP00000327988:T577S;ENSP00000416341:T604S	ENSP00000327988:T577S	T	-	1	0	NELL2	43287222	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.594000	0.61041	1.105000	0.41606	0.533000	0.62120	ACG	NELL2	-	NULL		0.403	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	T	NM_006159		45000955	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45000955	T	A	45000955	3	1	131	1	0	0	0	0	1	0	0	0	10358	1725	60	5	814	5	NELL2	12	45000955	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1229698	45000955	88850940	1312	21452										
SLC38A1	81539	genome.wustl.edu	37	chr12	46600991	46600991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggcagagggtagttcattTtttacgatgaagaggtagct	13	4	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:46600991T>G	ENST00000398637.5	-	8	1204	c.510A>C	c.(508-510)aaA>aaC	p.K170N	SLC38A1_ENST00000546893.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	170					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GTAGTTCATTTTTTACGATGA	0.313																																																	0													73	65	67					12																	46600991		1821	4080	5901	SO:0001583	missense	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.510A>C	12.37:g.46600991T>G	ENSP00000381634:p.Lys170Asn		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.K170N	ENST00000398637.5	37	c.510	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914389	0.72983	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	5.95	4.8	0.61643	.	0.072165	0.64402	D	0.000016	T	0.13798	0.0334	M	0.80616	2.505	0.41745	D	0.989638	P;D;D	0.61697	0.786;0.988;0.99	P;D;D	0.66979	0.566;0.914;0.948	T	0.00189	-1.1939	10	0.87932	D	0	-18.3391	10.8131	0.46559	0.0:0.0777:0.0:0.9223	.	170;170;170	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	N	170	ENSP00000449607:K170N;ENSP00000398142:K170N;ENSP00000381634:K170N;ENSP00000447853:K170N;ENSP00000449756:K170N	ENSP00000381634:K170N	K	-	3	2	SLC38A1	44887258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.714000	0.37961	1.061000	0.40601	0.460000	0.39030	AAA	SLC38A1	-	pfam_AA_transpt_TM		0.313	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	T			46600991	-1	no_errors	ENST00000398637	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46600991	T	G	46600991	3	3	131	1	0	0	0	0	1	0	0	0	14631	1838	64	5	993	5	SLC38A1	12	46600991	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1600036	46600991	87250904	1313	21453										
FAM113B	91523	genome.wustl.edu	37	chr12	47629064	47629064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcggggccacatgcacaacgGccttaactaccgtgaggtcc	12	14	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:47629064G>A	ENST00000546455.1	+	4	949	c.218G>A	c.(217-219)gGc>gAc	p.G73D	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	73							hydrolase activity (GO:0016787)										ATGCACAACGGCCTTAACTAC	0.597																																																	0													108	98	101					12																	47629064		2203	4300	6503	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.218G>A	12.37:g.47629064G>A	ENSP00000446688:p.Gly73Asp		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.G73D	ENST00000546455.1	37	c.218	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961183	0.53400	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.154442	0.41823	D	0.000804	T	0.42086	0.1187	M	0.80183	2.485	0.42662	D	0.993489	D	0.89917	1.0	D	0.87578	0.998	T	0.34775	-0.9815	10	0.39692	T	0.17	-18.9126	13.9718	0.64245	0.0:0.0:1.0:0.0	.	73	Q96HM7	F113B_HUMAN	D	73	ENSP00000446688:G73D;ENSP00000396040:G73D;ENSP00000449680:G73D;ENSP00000448000:G73D	ENSP00000396040:G73D	G	+	2	0	FAM113B	45915331	1.000000	0.71417	0.268000	0.24571	0.018000	0.09664	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGC	PCED1B	-	superfamily_Esterase_SGNH_hydro-type		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	G	NM_138371		47629064	1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.974	A	A	47629064	G	A	47629064	3	1	131	1	0	0	0	0	1	0	0	0	5417	1203	42	4	220	4	FAM113B	12	47629064	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1028073	47629064	86222831	1314	21454										
COL2A1	1280	genome.wustl.edu	37	chr12	48369798	48369798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaccaggaggcccaatggggCcagggattccattagcacca	13	12	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:48369798C>T	ENST00000380518.3	-	50	3709	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1113D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1182	Triple-helical region.		Missing (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCAATGGGGCCAGGGATTCC	0.617																																																	0													123	121	122					12																	48369798		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3545G>A	12.37:g.48369798C>T	ENSP00000369889:p.Gly1182Asp		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G1182D	ENST00000380518.3	37	c.3545	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302595	0.81136	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99353	-5.77;-5.77	5.0	5.0	0.66597	.	0.067148	0.64402	D	0.000015	D	0.99658	0.9873	H	0.97587	4.035	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.997;1.0	D	0.97404	0.9998	10	0.87932	D	0	.	17.064	0.86555	0.0:1.0:0.0:0.0	.	1113;1182	P02458-1;P02458	.;CO2A1_HUMAN	D	1182;1113;1113	ENSP00000369889:G1182D;ENSP00000338213:G1113D	ENSP00000338213:G1113D	G	-	2	0	COL2A1	46656065	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.033000	0.70925	2.318000	0.78349	0.462000	0.41574	GGC	COL2A1	-	pfam_Collagen		0.617	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48369798	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48369798	C	T	48369798	3	4	131	1	0	0	0	0	1	0	0	0	3692	739	26	4	938	4	COL2A1	12	48369798	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	740734	48369798	85482097	1315	21455										
C12orf41	54934	genome.wustl.edu	37	chr12	49075215	49075215	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgggacatctttttccattCttcgtcgatatataactaca	5	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:49075215C>A	ENST00000420613.2	-	2	248	c.201G>T	c.(199-201)aaG>aaT	p.K67N	KANSL2_ENST00000550347.1_Missense_Mutation_p.K250N|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Missense_Mutation_p.K67N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	67					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TTTTTCCATTCTTCGTCGATA	0.428																																																	0													148	141	143					12																	49075215		1892	4124	6016	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.201G>T	12.37:g.49075215C>A	ENSP00000415436:p.Lys67Asn		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.K67N	ENST00000420613.2	37	c.201	CCDS44869.1	12	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457669	0.43634	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550870;ENST00000548304	T;T;T;T;T	0.48836	0.87;0.87;0.87;0.87;0.8	5.59	3.75	0.43078	.	.	.	.	.	T	0.35998	0.0951	L	0.42686	1.345	0.80722	D	1	B;B	0.31931	0.347;0.1	B;B	0.26416	0.069;0.066	T	0.08330	-1.0727	9	0.30854	T	0.27	-23.3843	10.3686	0.44039	0.0:0.7899:0.1357:0.0745	.	250;67	F8VX10;Q9H9L4	.;CL041_HUMAN	N	250;67;67;67;67	ENSP00000449747:K250N;ENSP00000415436:K67N;ENSP00000448833:K67N;ENSP00000448473:K67N;ENSP00000446493:K67N	ENSP00000415436:K67N	K	-	3	2	C12orf41	47361482	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	2.438000	0.44837	0.715000	0.32103	-0.373000	0.07131	AAG	KANSL2	-	NULL		0.428	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	C	NM_017822		49075215	-1	no_errors	ENST00000420613	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49075215	C	A	49075215	3	1	131	1	0	0	0	0	1	0	0	0	1691	912	32	3	1313	3	C12orf41	12	49075215	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	705417	49075215	84776680	1316	21456										
MLL2	8085	genome.wustl.edu	37	chr12	49447074	49447074	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctttgtcacacgtctcacaAaccaacatcttagagtcatt	4	13	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:49447074A>C	ENST00000301067.7	-	7	869	c.870T>G	c.(868-870)gtT>gtG	p.V290V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	290	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACGTCTCACAAACCAACATCT	0.458																																																	0													194	188	190					12																	49447074		2037	4172	6209	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.870T>G	12.37:g.49447074A>C			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V290	ENST00000301067.7	37	c.870	CCDS44873.1	12																																																																																			MLL2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger		0.458	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	A			49447074	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.896	C	C	49447074	A	C	49447074	2	2	131	1	0	0	0	0	0	0	0	1	9644	1	1	5		5	MLL2	12	49447074	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	371859	49447074	84404821	1317	21457										
PRPF40B	25766	genome.wustl.edu	37	chr12	50025316	50025316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caccaatgggggcgccaccaCcactcacacaggtaattgtc	9	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50025316C>T	ENST00000380281.1	+	2	215	c.151C>T	c.(151-153)Cca>Tca	p.P51S	PRPF40B_ENST00000261897.1_Missense_Mutation_p.P45S|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P73S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	51	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGCGCCACCACCACTCACACA	0.602																																																	0													63	68	66					12																	50025316		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.151C>T	12.37:g.50025316C>T	ENSP00000369634:p.Pro51Ser		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P51S	ENST00000380281.1	37	c.151		12	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705319	0.30232	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.29655	1.6;1.65;1.56	5.41	4.52	0.55395	.	0.099035	0.41823	N	0.000816	T	0.17874	0.0429	N	0.14661	0.345	0.50313	D	0.999866	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.10450	0.002;0.005;0.002	T	0.06092	-1.0846	9	.	.	.	-3.1636	12.1898	0.54264	0.0:0.9158:0.0:0.0842	.	51;45;51	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	S	73;45;51	ENSP00000448073:P73S;ENSP00000261897:P45S;ENSP00000369634:P51S	.	P	+	1	0	PRPF40B	48311583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.402000	0.59722	1.412000	0.46977	0.655000	0.94253	CCA	PRPF40B	-	NULL		0.602	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	C	NM_012272		50025316	1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50025316	C	T	50025316	3	4	131	1	0	0	0	0	1	0	0	0	12599	507	18	4	157	4	PRPF40B	12	50025316	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	578242	50025316	83826579	1318	21458										
PRPF40B	25766	genome.wustl.edu	37	chr12	50029253	50029253	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcttcctggccaagaaggaGaaggtaatggtccctgggca	13	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50029253G>T	ENST00000380281.1	+	13	1270	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	PRPF40B_ENST00000261897.1_Missense_Mutation_p.E396D|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E424D|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	402					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAAGAAGGAGAAGGTAATGG	0.507																																																	0													98	90	92					12																	50029253		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1206G>T	12.37:g.50029253G>T	ENSP00000369634:p.Glu402Asp		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.E402D	ENST00000380281.1	37	c.1206		12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295005	0.81025	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29655	1.56;1.56	5.0	4.12	0.48240	FF domain (2);	0.000000	0.64402	D	0.000010	T	0.41627	0.1167	M	0.64567	1.98	0.53688	D	0.99997	P;P;P	0.49447	0.719;0.537;0.924	B;P;P	0.54270	0.443;0.542;0.747	T	0.23226	-1.0194	9	.	.	.	-23.2933	9.1422	0.36910	0.1696:0.0:0.8304:0.0	.	402;396;402	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	396;402	ENSP00000261897:E396D;ENSP00000369634:E402D	.	E	+	3	2	PRPF40B	48315520	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.698000	0.47068	1.493000	0.48517	-0.253000	0.11424	GAG	PRPF40B	-	superfamily_FF_domain		0.507	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50029253	1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50029253	G	T	50029253	3	4	131	1	0	0	0	0	1	0	0	0	12599	933	33	3	1256	3	PRPF40B	12	50029253	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3937	50029253	83822642	1319	21459										
AQP2	359	genome.wustl.edu	37	chr12	50348075	50348075	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgctctctccataggcttCtctgtggccctgggccacct	9	17	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50348075C>A	ENST00000199280.3	+	2	583	c.498C>A	c.(496-498)ttC>ttA	p.F166L	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	166					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCATAGGCTTCTCTGTGGCCC	0.622																																																	0													33	39	37					12																	50348075		2203	4300	6503	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.498C>A	12.37:g.50348075C>A	ENSP00000199280:p.Phe166Leu		Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.F166L	ENST00000199280.3	37	c.498	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	C	3.458	-0.110669	0.06924	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.84370	-1.84;-1.84	4.72	1.72	0.24424	Aquaporin-like (2);	0.336382	0.26023	N	0.026816	T	0.53690	0.1812	N	0.01235	-0.94	0.35163	D	0.770866	B	0.02656	0.0	B	0.01281	0.0	T	0.55237	-0.8172	10	0.02654	T	1	-19.533	5.8259	0.18554	0.0:0.5169:0.3015:0.1817	.	166	P41181	AQP2_HUMAN	L	166	ENSP00000199280:F166L;ENSP00000450022:F166L	ENSP00000199280:F166L	F	+	3	2	AQP2	48634342	0.993000	0.37304	0.812000	0.32479	0.825000	0.46686	0.418000	0.21230	0.499000	0.27970	0.491000	0.48974	TTC	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.622	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50348075	1	no_errors	ENST00000199280	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50348075	C	A	50348075	3	1	131	1	0	0	0	0	1	0	0	0	826	912	32	3	504	3	AQP2	12	50348075	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	318822	50348075	83503820	1320	21460										
LARP4	113251	genome.wustl.edu	37	chr12	50869372	50869372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaaagagccatcttcagttCttgtgcagccactacgggaa	9	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50869372C>A	ENST00000398473.2	+	16	2012	c.1900C>A	c.(1900-1902)Ctt>Att	p.L634I	LARP4_ENST00000429001.3_Missense_Mutation_p.L640I|LARP4_ENST00000293618.8_Missense_Mutation_p.L563I|LARP4_ENST00000518444.1_Missense_Mutation_p.L633I|LARP4_ENST00000347328.5_Missense_Mutation_p.L563I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	634					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCTTCAGTTCTTGTGCAGCC	0.443																																																	0													148	151	150					12																	50869372		1832	4096	5928	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1900C>A	12.37:g.50869372C>A	ENSP00000381490:p.Leu634Ile		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.L640I	ENST00000398473.2	37	c.1918	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726571	0.69074	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.18	3.3	0.37823	.	0.195954	0.43919	D	0.000504	T	0.37652	0.1011	L	0.50333	1.59	0.18873	N	0.999989	P;P;P;B;B;P;P	0.44946	0.82;0.846;0.584;0.028;0.028;0.586;0.467	B;B;B;B;B;B;B	0.42738	0.245;0.354;0.396;0.032;0.032;0.178;0.091	T	0.18681	-1.0329	10	0.30078	T	0.28	.	11.6388	0.51220	0.0:0.8023:0.1264:0.0713	.	515;44;633;563;563;634;640	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	I	563;640;634;633;515;563	ENSP00000293618:L563I;ENSP00000415464:L640I;ENSP00000381490:L634I;ENSP00000429077:L633I;ENSP00000340901:L563I	ENSP00000293618:L563I	L	+	1	0	LARP4	49155639	0.001000	0.12720	1.000000	0.80357	0.982000	0.71751	0.900000	0.28431	1.309000	0.44985	0.643000	0.83706	CTT	LARP4	-	NULL		0.443	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	HGNC	protein_coding	OTTHUMT00000374981.1	C	NM_052879		50869372	1	no_errors	ENST00000429001	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50869372	C	A	50869372	3	1	131	1	0	0	0	0	1	0	0	0	8650	913	32	3	1966	3	LARP4	12	50869372	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	521297	50869372	82982523	1321	21461										
TFCP2	7024	genome.wustl.edu	37	chr12	51512478	51512478	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcacaaagcacatattgaAaaggcaggattttattctca	7	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:51512478A>C	ENST00000257915.5	-	2	658	c.200T>G	c.(199-201)tTt>tGt	p.F67C	TFCP2_ENST00000548115.1_Missense_Mutation_p.F67C|TFCP2_ENST00000307660.4_Missense_Mutation_p.F67C|TFCP2_ENST00000549867.1_Missense_Mutation_p.F67C	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	67					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CACATATTGAAAAGGCAGGAT	0.388																																																	0													185	177	180					12																	51512478		2203	4300	6503	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.200T>G	12.37:g.51512478A>C	ENSP00000257915:p.Phe67Cys		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.F67C	ENST00000257915.5	37	c.200	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679473	0.88542	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.66	5.66	0.87406	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.996;0.999	D;D;D;D	0.81914	0.995;0.987;0.967;0.978	T	0.71609	-0.4541	10	0.87932	D	0	-16.1711	15.1762	0.72913	1.0:0.0:0.0:0.0	.	67;67;67;67	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	C	67	ENSP00000257915:F67C;ENSP00000304411:F67C;ENSP00000449742:F67C;ENSP00000447991:F67C	ENSP00000257915:F67C	F	-	2	0	TFCP2	49798745	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.232000	0.95325	2.289000	0.77006	0.482000	0.46254	TTT	TFCP2	-	pfam_CP2		0.388	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	A	NM_005653		51512478	-1	no_errors	ENST00000257915	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51512478	A	C	51512478	3	2	131	1	0	0	0	0	1	0	0	0	15825	14	1	5	1364	5	TFCP2	12	51512478	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	643106	51512478	82339417	1322	21462										
SCN8A	6334	genome.wustl.edu	37	chr12	52200522	52200522	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctttgtaagctacatcaTcatctctttcctaattgtcg	4	11	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:52200522T>G	ENST00000354534.6	+	27	5430	c.5252T>G	c.(5251-5253)aTc>aGc	p.I1751S	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Missense_Mutation_p.I1710S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1751					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGCTACATCATCATCTCTTTC	0.493																																																	0													109	117	115					12																	52200522		2192	4300	6492	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5252T>G	12.37:g.52200522T>G	ENSP00000346534:p.Ile1751Ser		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1751S	ENST00000354534.6	37	c.5252	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287034	0.59867	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98822	-5.16;-5.16	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.98763	1.0725	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:0.0:1.0	.	1751	Q9UQD0	SCN8A_HUMAN	S	1751;1710	ENSP00000346534:I1751S;ENSP00000440360:I1710S	ENSP00000346534:I1751S	I	+	2	0	SCN8A	50486789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	ATC	SCN8A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	T	NM_014191		52200522	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52200522	T	G	52200522	3	3	131	1	0	0	0	0	1	0	0	0	13954	1435	50	5	5354	5	SCN8A	12	52200522	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	688044	52200522	81651373	1323	21463										
KRT1	3848	genome.wustl.edu	37	chr12	53070101	53070101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtcctgtaggtggcaatcTccagatccagggccagcttt	13	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:53070101T>C	ENST00000252244.3	-	7	1491	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	478	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGTGGCAATCTCCAGATCCAG	0.587																																																	0													98	72	81					12																	53070101		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1433A>G	12.37:g.53070101T>C	ENSP00000252244:p.Glu478Gly		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E478G	ENST00000252244.3	37	c.1433	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	t	24.6	4.550889	0.86127	.	.	ENSG00000167768	ENST00000252244	D	0.96802	-4.13	4.79	4.79	0.61399	Prefoldin (1);Filament (1);	.	.	.	.	D	0.98940	0.9640	H	0.99011	4.4	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	9	0.87932	D	0	.	14.6359	0.68689	0.0:0.0:0.0:1.0	.	478	P04264	K2C1_HUMAN	G	478	ENSP00000252244:E478G	ENSP00000252244:E478G	E	-	2	0	KRT1	51356368	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.974000	0.88039	1.932000	0.55993	0.379000	0.24179	GAG	KRT1	-	pfam_F,superfamily_Prefoldin		0.587	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	T	NM_006121		53070101	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53070101	T	C	53070101	3	2	131	1	0	0	0	0	1	0	0	0	8467	1551	54	5	513	5	KRT1	12	53070101	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	869579	53070101	80781794	1324	21464										
PFDN5	5204	genome.wustl.edu	37	chr12	53691642	53691642	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttgcttctcagatgtatgtCcctgggaagctgcatgatgt	11	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:53691642C>T	ENST00000551018.1	+	4	493	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Silent_p.V72V|PFDN5_ENST00000351500.3_Silent_p.V27V|PFDN5_ENST00000550846.1_Intron|C12orf10_ENST00000548632.1_5'Flank|C12orf10_ENST00000267103.5_5'Flank|C12orf10_ENST00000549488.1_5'Flank	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	72					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						AGATGTATGTCCCTGGGAAGC	0.512																																																	0													153	137	143					12																	53691642		2203	4300	6503	SO:0001819	synonymous_variant	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.216C>T	12.37:g.53691642C>T			A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	superfamily_Prefoldin	p.P62S	ENST00000551018.1	37	c.184	CCDS8853.1	12																																																																																			PFDN5	-	NULL		0.512	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	C			53691642	1	no_errors	ENST00000243040	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53691642	C	T	53691642	2	4	131	1	0	0	0	0	0	0	0	1	11782	842	30	1		1	PFDN5	12	53691642	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	621541	53691642	80160253	1325	21465										
OR6C75	390323	genome.wustl.edu	37	chr12	55759219	55759219	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatcttcttgggggtgacaGaattttaccttctggctgcc	10	10	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:55759219G>T	ENST00000343399.3	+	1	325	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGGTGACAGAATTTTACCT	0.448																																																	0													139	131	133					12																	55759219		2203	4300	6503	SO:0001587	stop_gained	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.325G>T	12.37:g.55759219G>T	ENSP00000368987:p.Glu109*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E109*	ENST00000343399.3	37	c.325	CCDS31820.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367738	0.82463	.	.	ENSG00000187857	ENST00000343399	.	.	.	5.27	4.36	0.52297	.	0.000000	0.42053	U	0.000767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.551	0.68068	0.0:0.1475:0.8525:0.0	.	.	.	.	X	109	.	ENSP00000368987:E109X	E	+	1	0	OR6C75	54045486	0.221000	0.23642	0.994000	0.49952	0.977000	0.68977	2.564000	0.45931	1.412000	0.46977	0.650000	0.86243	GAA	OR6C75	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1	G			55759219	1	no_errors	ENST00000343399	ensembl	human	known	70_37	nonsense	SNP	0.735	T	T	55759219	G	T	55759219	4	4	131	1	0	0	0	0	0	1	0	0	11223	943	33	3	327	3	OR6C75	12	55759219	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2067577	55759219	78092676	1326	21466										
CD63	967	genome.wustl.edu	37	chr12	56119986	56119986	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggagtcggggactcggttCttcgacatggaagggatttt	15	7	1	0	rs483352715		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:56119986C>A	ENST00000549117.1	-	6	922	c.486G>T	c.(484-486)aaG>aaT	p.K162N	CD63_ENST00000548160.1_Missense_Mutation_p.K69N|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000257857.4_Missense_Mutation_p.K162N|CD63_ENST00000552754.1_Missense_Mutation_p.K139N|CD63_ENST00000552067.1_Missense_Mutation_p.K69N|CD63_ENST00000546939.1_Missense_Mutation_p.K80N|CD63_ENST00000550776.1_Missense_Mutation_p.K80N|CD63_ENST00000420846.3_Missense_Mutation_p.K162N|CD63_ENST00000548898.1_Missense_Mutation_p.K69N|CD63_ENST00000552692.1_Missense_Mutation_p.K162N	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	162					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GGACTCGGTTCTTCGACATGG	0.483																																					Pancreas(123;1459 1747 6717 18841 37380)												0													111	110	110					12																	56119986		2203	4300	6503	SO:0001583	missense	967			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.486G>T	12.37:g.56119986C>A	ENSP00000447730:p.Lys162Asn		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.K162N	ENST00000549117.1	37	c.486	CCDS8890.1	12	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738627	0.30774	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	4.57	1.57	0.23409	Tetraspanin, EC2 domain (1);	0.608948	0.17178	N	0.184016	T	0.49423	0.1556	N	0.10809	0.05	0.09310	N	1	B;B;B	0.25206	0.12;0.001;0.001	B;B;B	0.17979	0.02;0.007;0.007	T	0.22800	-1.0206	10	0.16896	T	0.51	.	1.5738	0.02620	0.1735:0.473:0.1682:0.1853	.	139;162;162	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	N	69;69;162;69;80;162;162;162;139;80;162;162	ENSP00000447938:K69N;ENSP00000449684:K69N;ENSP00000393502:K162N;ENSP00000449654:K69N;ENSP00000447356:K80N;ENSP00000449337:K162N;ENSP00000447730:K162N;ENSP00000257857:K162N;ENSP00000446807:K139N;ENSP00000448091:K80N;ENSP00000449281:K162N;ENSP00000446752:K162N	ENSP00000257857:K162N	K	-	3	2	CD63	54406253	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-0.599000	0.05700	0.228000	0.21019	0.591000	0.81541	AAG	CD63	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.483	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1	C			56119986	-1	no_errors	ENST00000257857	ensembl	human	known	70_37	missense	SNP	0.004	A	A	56119986	C	A	56119986	3	1	131	1	0	0	0	0	1	0	0	0	3034	912	32	3	242	3	CD63	12	56119986	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	360767	56119986	77731909	1327	21467										
TIMELESS	8914	genome.wustl.edu	37	chr12	56815544	56815544	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaattcctcaaaaagccgctGcagctccaactcctgatccc	6	16	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:56815544G>A	ENST00000553532.1	-	22	2842	c.2692C>T	c.(2692-2694)Cag>Tag	p.Q898*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.Q897*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.Q395*					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAAGCCGCTGCAGCTCCAAC	0.502																																																	0													127	129	129					12																	56815544		2203	4300	6503	SO:0001587	stop_gained	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2692C>T	12.37:g.56815544G>A	ENSP00000450607:p.Gln898*			Nonsense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.Q898*	ENST00000553532.1	37	c.2692	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.763458	0.98943	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.29	5.29	0.74685	.	0.442225	0.24366	N	0.039145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.8245	18.0809	0.89441	0.0:0.0:1.0:0.0	.	.	.	.	X	897;898;395	.	ENSP00000229201:Q898X	Q	-	1	0	TIMELESS	55101811	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.763000	0.47605	2.653000	0.90120	0.555000	0.69702	CAG	TIMELESS	-	pfam_TIMELESS_C		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56815544	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	56815544	G	A	56815544	4	1	131	1	0	0	0	0	0	1	0	0	15934	1328	46	4	966	4	TIMELESS	12	56815544	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	695558	56815544	77036351	1328	21468										
BAZ2A	11176	genome.wustl.edu	37	chr12	57005692	57005692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaagttacgggagaggcttTtggggatgtcactgaagccg	17	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:57005692T>C	ENST00000551812.1	-	6	1673	c.1480A>G	c.(1480-1482)Aaa>Gaa	p.K494E	BAZ2A_ENST00000549884.1_Missense_Mutation_p.K492E|BAZ2A_ENST00000179765.5_Missense_Mutation_p.K462E|BAZ2A_ENST00000379441.3_Missense_Mutation_p.K464E	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	494					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K494Q(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAGAGGCTTTTGGGGATGTC	0.542																																																	2	Substitution - Missense(2)	large_intestine(2)											49	52	51					12																	57005692		1944	4154	6098	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1480A>G	12.37:g.57005692T>C	ENSP00000446880:p.Lys494Glu		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K494E	ENST00000551812.1	37	c.1480	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	T	11.28	1.590744	0.28357	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.64991	-0.12;-0.12;-0.13;-0.13	5.09	2.68	0.31781	.	0.750279	0.12806	N	0.437571	T	0.32041	0.0816	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.22601	0.04;0.018	T	0.25187	-1.0139	10	0.07990	T	0.79	.	1.5553	0.02583	0.1607:0.0959:0.2651:0.4783	.	492;494	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	E	464;462;494;492	ENSP00000368754:K464E;ENSP00000179765:K462E;ENSP00000446880:K494E;ENSP00000447941:K492E	ENSP00000179765:K462E	K	-	1	0	BAZ2A	55291959	0.005000	0.15991	0.192000	0.23308	0.817000	0.46193	0.445000	0.21677	0.944000	0.37579	0.459000	0.35465	AAA	BAZ2A	-	NULL		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	T	NM_013449		57005692	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	missense	SNP	0.022	C	C	57005692	T	C	57005692	3	2	131	1	0	0	0	0	1	0	0	0	1332	1850	64	5	4333	5	BAZ2A	12	57005692	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	190148	57005692	76846203	1329	21469										
MYO1A	4640	genome.wustl.edu	37	chr12	57430602	57430602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaataacacggatgcctttAtcttcccatagcatttcttt	4	11	3	0	rs145027196	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:57430602A>C	ENST00000442789.2	-	22	2515	c.2228T>G	c.(2227-2229)aTa>aGa	p.I743R	MYO1A_ENST00000544473.1_Missense_Mutation_p.I581R|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.I743R	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	743	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGATGCCTTTATCTTCCCATA	0.438																																																	0													279	260	266					12																	57430602		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2228T>G	12.37:g.57430602A>C	ENSP00000393392:p.Ile743Arg		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I743R	ENST00000442789.2	37	c.2228	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605964	0.28623	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.69926	-0.44;-0.44;-0.44	5.43	5.43	0.79202	.	0.369306	0.31542	N	0.007461	T	0.44953	0.1318	N	0.08118	0	0.58432	D	0.999999	B	0.34103	0.437	B	0.32289	0.143	T	0.46317	-0.9200	10	0.23302	T	0.38	.	13.4325	0.61064	1.0:0.0:0.0:0.0	.	743	Q9UBC5	MYO1A_HUMAN	R	743;743;581	ENSP00000300119:I743R;ENSP00000393392:I743R;ENSP00000440514:I581R	ENSP00000300119:I743R	I	-	2	0	MYO1A	55716869	1.000000	0.71417	0.894000	0.35097	0.364000	0.29643	4.608000	0.61141	2.058000	0.61347	0.460000	0.39030	ATA	MYO1A	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.438	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	A	NM_005379		57430602	-1	no_errors	ENST00000300119	ensembl	human	known	70_37	missense	SNP	0.996	C	C	57430602	A	C	57430602	3	2	131	1	0	0	0	0	1	0	0	0	10091	449	16	5	935	5	MYO1A	12	57430602	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	424910	57430602	76421293	1330	21470										
MYO1A	4640	genome.wustl.edu	37	chr12	57436875	57436875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccttgatgctctcattgattCgattcactatccagtcaaag	6	11	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:57436875C>T	ENST00000442789.2	-	13	1366	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R198Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R360Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	360	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCATTGATTCGATTCACTAT	0.542																																																	0													108	97	101					12																	57436875		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1079G>A	12.37:g.57436875C>T	ENSP00000393392:p.Arg360Gln		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R360Q	ENST00000442789.2	37	c.1079	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.337651	0.95758	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.95	4.95	0.65309	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.76574	2.34	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.94324	0.7556	10	0.87932	D	0	.	16.0975	0.81135	0.0:1.0:0.0:0.0	.	360	Q9UBC5	MYO1A_HUMAN	Q	360;360;198;56	ENSP00000300119:R360Q;ENSP00000393392:R360Q;ENSP00000440514:R198Q;ENSP00000452229:R56Q	ENSP00000300119:R360Q	R	-	2	0	MYO1A	55723142	0.996000	0.38824	0.999000	0.59377	0.983000	0.72400	7.587000	0.82613	2.744000	0.94065	0.655000	0.94253	CGA	MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	C	NM_005379		57436875	-1	no_errors	ENST00000300119	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57436875	C	T	57436875	3	4	131	1	0	0	0	0	1	0	0	0	10091	884	31	1	2120	1	MYO1A	12	57436875	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6273	57436875	76415020	1331	21471										
TSFM	10102	genome.wustl.edu	37	chr12	58179958	58179958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttacaggcagagatctggCtccacaaggaggcccagaag	12	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:58179958C>T	ENST00000550559.1	+	3	259	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	TSFM_ENST00000548851.1_Missense_Mutation_p.L82F|TSFM_ENST00000454289.3_Missense_Mutation_p.L82F|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000350762.5_Missense_Mutation_p.L42F|RP11-571M6.15_ENST00000553083.1_3'UTR|RP11-571M6.15_ENST00000471530.1_3'UTR|TSFM_ENST00000543727.1_Missense_Mutation_p.L82F|TSFM_ENST00000540550.1_Missense_Mutation_p.L82F|TSFM_ENST00000323833.8_Missense_Mutation_p.L82F					Ts translation elongation factor, mitochondrial											endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGATCTGGCTCCACAAGGA	0.473																																																	0													54	51	52					12																	58179958		2203	4299	6502	SO:0001583	missense	10102			L37936	CCDS8958.2, CCDS53809.1, CCDS53810.1, CCDS53811.1	12q14.1	2006-06-10			ENSG00000123297	ENSG00000123297			12367	protein-coding gene	gene with protein product		604723				7615523	Standard	NM_005726		Approved	EF-Tsmt, EF-TS	uc001sqh.3	P43897	OTTHUMG00000153042	ENST00000550559.1:c.244C>T	12.37:g.58179958C>T	ENSP00000448575:p.Leu82Phe			Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N	p.L82F	ENST00000550559.1	37	c.244		12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531161	0.85706	.	.	ENSG00000257921;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297	ENST00000546504;ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000350762;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	.	.	.	5.29	5.29	0.74685	UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	H	0.97291	3.975	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.93219	0.6607	9	0.87932	D	0	.	17.859	0.88775	0.0:1.0:0.0:0.0	.	82;42;82;82	B4E391;F8W6R3;P43897;P43897-2	.;.;EFTS_HUMAN;.	F	101;82;82;82;82;42;82;82;32;32	.	ENSP00000449544:L101F	L	+	1	0	RP11-571M6.15;TSFM	56466225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.946000	0.56644	2.741000	0.93983	0.655000	0.94253	CTC	TSFM	-	NULL		0.473	TSFM-008	PUTATIVE	basic|exp_conf	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409343.1	C	NM_005726		58179958	1	no_errors	ENST00000323833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58179958	C	T	58179958	3	4	131	1	0	0	0	0	1	0	0	0	16646	797	28	4	254	4	TSFM	12	58179958	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	743083	58179958	75671937	1332	21472										
USP15	9958	genome.wustl.edu	37	chr12	62784715	62784715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgctgtaaggaccaaaataTtaatgggaatggcccaaatg	10	7	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:62784715T>G	ENST00000280377.5	+	15	1974	c.1916T>G	c.(1915-1917)aTt>aGt	p.I639S	USP15_ENST00000353364.3_Missense_Mutation_p.I610S|USP15_ENST00000393654.3_Missense_Mutation_p.I614S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	639	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GACCAAAATATTAATGGGAAT	0.348																																					Melanoma(181;615 2041 39364 49691 50001)												0													72	70	70					12																	62784715		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1916T>G	12.37:g.62784715T>G	ENSP00000280377:p.Ile639Ser		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.I639S	ENST00000280377.5	37	c.1916	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	T	7.713	0.695572	0.15106	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.18657	2.2;2.2;2.2	5.7	5.7	0.88788	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.340618	0.28977	N	0.013530	T	0.12987	0.0315	N	0.10760	0.04	0.46954	D	0.999261	B;B	0.27286	0.174;0.004	B;B	0.30943	0.122;0.004	T	0.21827	-1.0234	9	.	.	.	-10.8446	15.959	0.79914	0.0:0.0:0.0:1.0	.	639;610	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	610;639;614	ENSP00000258123:I610S;ENSP00000280377:I639S;ENSP00000377264:I614S	.	I	+	2	0	USP15	61070982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.842000	0.75379	2.172000	0.68678	0.377000	0.23210	ATT	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	T	NM_006313		62784715	1	no_errors	ENST00000280377	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62784715	T	G	62784715	3	3	131	1	0	0	0	0	1	0	0	0	17077	1493	52	5	1883	5	USP15	12	62784715	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4604757	62784715	71067180	1333	21473										
DPY19L2	283417	genome.wustl.edu	37	chr12	64061950	64061950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggggccgagaagaaaggtcTtggccaccacctctagctcc	12	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:64061950T>G	ENST00000324472.4	-	1	407	c.224A>C	c.(223-225)aAg>aCg	p.K75T	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	75					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAGAAAGGTCTTGGCCACCAC	0.617																																																	0													74	82	79					12																	64061950		2203	4300	6503	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.224A>C	12.37:g.64061950T>G	ENSP00000315988:p.Lys75Thr		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	pfam_Dpy-19	p.K75T	ENST00000324472.4	37	c.224	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	T	2.241	-0.373845	0.05034	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.53206	0.63;1.06	1.61	-2.15	0.07102	.	.	.	.	.	T	0.29223	0.0727	L	0.32530	0.975	0.09310	N	0.999997	B	0.23735	0.09	B	0.19148	0.024	T	0.17715	-1.0360	8	.	.	.	.	5.3515	0.16038	0.0:0.3675:0.0:0.6325	.	75	Q6NUT2	D19L2_HUMAN	T	75	ENSP00000315988:K75T;ENSP00000444932:K75T	.	K	-	2	0	DPY19L2	62348217	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.871000	0.01640	-0.649000	0.05430	0.164000	0.16699	AAG	DPY19L2	-	NULL		0.617	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	T	NM_173812		64061950	-1	no_errors	ENST00000324472	ensembl	human	known	70_37	missense	SNP	0.000	G	G	64061950	T	G	64061950	3	3	131	1	0	0	0	0	1	0	0	0	4751	1609	56	5	2140	5	DPY19L2	12	64061950	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1277235	64061950	69789945	1334	21474										
C12orf66	144577	genome.wustl.edu	37	chr12	64609553	64609553	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggtgtacatcttctcataGaagtctgccatctccatccg	8	12	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:64609553G>T	ENST00000398055.3	-	2	479	c.426C>A	c.(424-426)ttC>ttA	p.F142L	C12orf66_ENST00000311915.8_Missense_Mutation_p.F142L|C12orf66_ENST00000544871.1_Missense_Mutation_p.F89L	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	142										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TCTTCTCATAGAAGTCTGCCA	0.512																																																	0													70	69	69					12																	64609553		1999	4186	6185	SO:0001583	missense	144577				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.426C>A	12.37:g.64609553G>T	ENSP00000381132:p.Phe142Leu		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.F142L	ENST00000398055.3	37	c.426	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669625	0.47677	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.36340	1.26;1.26;1.26	5.95	5.01	0.66863	.	0.098933	0.64402	D	0.000001	T	0.24044	0.0582	N	0.25789	0.76	0.51767	D	0.999938	B;B	0.16603	0.001;0.018	B;B	0.20184	0.002;0.028	T	0.05784	-1.0864	9	.	.	.	-24.1258	10.0498	0.42208	0.071:0.1387:0.7903:0.0	.	89;142	F5H2Q3;Q96MD2	.;CL066_HUMAN	L	142;89;142	ENSP00000311486:F142L;ENSP00000445481:F89L;ENSP00000381132:F142L	.	F	-	3	2	C12orf66	62895820	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.080000	0.57620	2.826000	0.97356	0.491000	0.48974	TTC	C12orf66	-	pfam_DUF2003		0.512	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	G	NM_152440		64609553	-1	no_errors	ENST00000398055	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64609553	G	T	64609553	3	4	131	1	0	0	0	0	1	0	0	0	1713	933	33	3	919	3	C12orf66	12	64609553	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	547603	64609553	69242342	1335	21475										
GRIP1	23426	genome.wustl.edu	37	chr12	66856842	66856842	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctggttccatcgatggagaGgatgtgatctcccacatgca	12	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:66856842G>C	ENST00000398016.3	-	9	972	c.904C>G	c.(904-906)Ctc>Gtc	p.L302V	GRIP1_ENST00000359742.4_Missense_Mutation_p.L302V|GRIP1_ENST00000286445.7_Missense_Mutation_p.L302V	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCGATGGAGAGGATGTGATCT	0.507																																																	0													133	130	131					12																	66856842		2051	4201	6252	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.904C>G	12.37:g.66856842G>C	ENSP00000381098:p.Leu302Val		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L302V	ENST00000398016.3	37	c.904	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.27|17.27	3.346426|3.346426	0.61073|0.61073	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000543172	T;T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37;1.37|.	5.23|5.23	3.33|3.33	0.38152|0.38152	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65523|0.65523	0.2699|0.2699	M|M	0.75085|0.75085	2.285|2.285	0.53688|0.53688	D|D	0.999974|0.999974	B;D;P;D|.	0.64830|.	0.372;0.994;0.952;0.986|.	P;D;P;D|.	0.83275|.	0.589;0.996;0.886;0.993|.	T|T	0.63386|0.63386	-0.6649|-0.6649	9|5	.|.	.|.	.|.	-10.9628|-10.9628	8.7501|8.7501	0.34611|0.34611	0.2459:0.0:0.7541:0.0|0.2459:0.0:0.7541:0.0	.|.	302;302;302;302|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	V|R	302;302;302;302;246;246|122	ENSP00000381098:L302V;ENSP00000352780:L302V;ENSP00000286445:L302V;ENSP00000446047:L302V;ENSP00000446024:L246V;ENSP00000446011:L246V|.	.|.	L|P	-|-	1|2	0|0	GRIP1|GRIP1	65143109|65143109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	5.690000|5.690000	0.68241|0.68241	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	CTC|CCT	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.507	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	G			66856842	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66856842	G	C	66856842	3	2	131	1	0	0	0	0	1	0	0	0	6807	1000	35	4	2390	4	GRIP1	12	66856842	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2247289	66856842	66995053	1336	21476										
CAND1	55832	genome.wustl.edu	37	chr12	67698430	67698430	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaaacagatgaaagaaaaaAgtgtgaagacccgacagtgt	10	6	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:67698430A>C	ENST00000545606.1	+	9	1776	c.1339A>C	c.(1339-1341)Agt>Cgt	p.S447R		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	447					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAAGAAAAAAGTGTGAAGAC	0.393																																																	0													109	108	109					12																	67698430		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1339A>C	12.37:g.67698430A>C	ENSP00000442318:p.Ser447Arg		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S447R	ENST00000545606.1	37	c.1339	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542224	0.65198	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.68331	-0.32;-0.32	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.91717	3.235	0.80722	D	1	P;D	0.64830	0.752;0.994	B;D	0.65684	0.058;0.937	D	0.88063	0.2795	9	.	.	.	-13.879	16.4052	0.83662	1.0:0.0:0.0:0.0	.	447;447	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	R	447;447;289;155	ENSP00000442318:S447R;ENSP00000444089:S155R	.	S	+	1	0	CAND1	65984697	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.307000	0.96226	2.279000	0.76181	0.402000	0.26972	AGT	CAND1	-	superfamily_ARM-type_fold		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	A	NM_018448		67698430	1	no_errors	ENST00000299218	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67698430	A	C	67698430	3	2	131	1	0	0	0	0	1	0	0	0	2620	72	3	5	1373	5	CAND1	12	67698430	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	841588	67698430	66153465	1337	21477										
MDM2	4193	genome.wustl.edu	37	chr12	69210688	69210688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaatgatcttctaggagatTtgtttggcgtgccaagcttc	10	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:69210688T>G	ENST00000350057.5	+	2	178	c.178T>G	c.(178-180)Ttg>Gtg	p.L60V	MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.L85V|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.L91V|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.L91V|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	85	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTAGGAGATTTGTTTGGCGT	0.363			A		"sarcoma, glioma, colorectal, other"																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0													99	93	95					12																	69210688		1839	4087	5926	SO:0001583	missense	4193				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.178T>G	12.37:g.69210688T>G	ENSP00000266624:p.Leu60Val		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.L91V	ENST00000350057.5	37	c.271		12	.	.	.	.	.	.	.	.	.	.	T	8.679	0.904774	0.17760	.	.	ENSG00000135679	ENST00000462284;ENST00000258149;ENST00000311440;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T;T;T	0.50548	1.37;0.91;0.91;0.74;1.41	5.22	0.321	0.15883	SWIB/MDM2 domain (2);	0.142348	0.47093	N	0.000245	T	0.32285	0.0824	L	0.31664	0.95	0.80722	D	1	B;B;B;B	0.22080	0.002;0.007;0.064;0.001	B;B;B;B	0.35312	0.021;0.071;0.2;0.017	T	0.03651	-1.1016	9	.	.	.	-7.9806	4.6884	0.12769	0.0:0.4062:0.1933:0.4005	.	85;91;85;91	Q00987;G3XA89;Q8NDW2;Q00987-11	MDM2_HUMAN;.;.;.	V	91;85;85;91;85;85;116;60	ENSP00000417281:L91V;ENSP00000258149:L85V;ENSP00000258148:L91V;ENSP00000444430:L85V;ENSP00000266624:L60V	.	L	+	1	2	MDM2	67496955	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	0.931000	0.28871	0.151000	0.19162	-0.371000	0.07208	TTG	MDM2	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4		0.363	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1	T	NM_006880		69210688	1	no_errors	ENST00000462284	ensembl	human	known	70_37	missense	SNP	0.996	G	G	69210688	T	G	69210688	3	3	131	1	0	0	0	0	1	0	0	0	9436	1838	64	5	285	5	MDM2	12	69210688	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1512258	69210688	64641207	1338	21478										
KCNC2	3747	genome.wustl.edu	37	chr12	75601247	75601247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggggtcgccgccaatgaggtCgggggtctcgaagatgtcca	17	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:75601247C>T	ENST00000549446.1	-	2	1197	c.517G>A	c.(517-519)Gac>Aac	p.D173N	KCNC2_ENST00000393288.2_Missense_Mutation_p.D173N|KCNC2_ENST00000298972.1_Missense_Mutation_p.D173N|KCNC2_ENST00000550433.1_Missense_Mutation_p.D173N|KCNC2_ENST00000341669.3_Missense_Mutation_p.D173N|KCNC2_ENST00000548513.1_Missense_Mutation_p.D173N|KCNC2_ENST00000350228.2_Missense_Mutation_p.D173N|KCNC2_ENST00000540018.1_Missense_Mutation_p.D173N	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	173					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCAATGAGGTCGGGGGTCTCG	0.711																																																	0													21	23	23					12																	75601247		2203	4299	6502	SO:0001583	missense	3747			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.517G>A	12.37:g.75601247C>T	ENSP00000449253:p.Asp173Asn		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.D173N	ENST00000549446.1	37	c.517	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849734	0.71603	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.41;-4.42;-4.42;-4.41;-4.41;-4.42	3.97	3.97	0.46021	.	.	.	.	.	D	0.95541	0.8551	L	0.58510	1.815	0.58432	D	0.999998	D;B;B;B;P	0.56035	0.974;0.011;0.067;0.019;0.792	B;B;B;B;B	0.41764	0.366;0.008;0.008;0.02;0.181	D	0.95912	0.8924	9	0.56958	D	0.05	.	16.5684	0.84604	0.0:1.0:0.0:0.0	.	173;173;173;173;173	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	N	173	ENSP00000448301:D173N;ENSP00000449941:D173N;ENSP00000449253:D173N;ENSP00000340121:D173N;ENSP00000298972:D173N;ENSP00000319877:D173N;ENSP00000438423:D173N;ENSP00000376966:D173N	ENSP00000298972:D173N	D	-	1	0	KCNC2	73887514	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.199000	0.65152	2.191000	0.70037	0.563000	0.77884	GAC	KCNC2	-	NULL		0.711	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	C	NM_153748		75601247	-1	no_errors	ENST00000549446	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75601247	C	T	75601247	3	4	131	1	0	0	0	0	1	0	0	0	8035	884	31	1	1481	1	KCNC2	12	75601247	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6390559	75601247	58250648	1339	21479										
BBS10	79738	genome.wustl.edu	37	chr12	76740306	76740306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaattagaatgtacttttaAatatgtttgagttttttcca	5	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:76740306A>C	ENST00000393262.3	-	2	1542	c.1459T>G	c.(1459-1461)Tta>Gta	p.L487V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	487					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TGTACTTTTAAATATGTTTGA	0.363									Bardet-Biedl syndrome																																								0													101	101	101					12																	76740306		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1459T>G	12.37:g.76740306A>C	ENSP00000376946:p.Leu487Val		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L487V	ENST00000393262.3	37	c.1459	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	A	7.116	0.577085	0.13686	.	.	ENSG00000179941	ENST00000393262	D	0.88201	-2.35	4.56	1.93	0.25924	.	0.234157	0.22091	N	0.064751	T	0.82268	0.5000	L	0.59436	1.845	0.09310	N	1	B	0.21225	0.053	B	0.22152	0.038	T	0.69124	-0.5228	10	0.38643	T	0.18	-1.5981	0.9077	0.01288	0.472:0.1776:0.1047:0.2456	.	487	Q8TAM1	BBS10_HUMAN	V	487	ENSP00000376946:L487V	ENSP00000376946:L487V	L	-	1	2	BBS10	75264437	0.189000	0.23263	0.220000	0.23810	0.488000	0.33401	2.717000	0.47227	0.249000	0.21456	0.459000	0.35465	TTA	BBS10	-	superfamily_Cpn60/TCP-1		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	A	NM_024685		76740306	-1	no_errors	ENST00000393262	ensembl	human	known	70_37	missense	SNP	0.044	C	C	76740306	A	C	76740306	3	2	131	1	0	0	0	0	1	0	0	0	1337	11	1	5	716	5	BBS10	12	76740306	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1139059	76740306	57111589	1340	21480										
BBS10	79738	genome.wustl.edu	37	chr12	76740961	76740961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactctgatccagaagtggaAaaaagaggctgaatggtttc	11	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:76740961A>C	ENST00000393262.3	-	2	887	c.804T>G	c.(802-804)ttT>ttG	p.F268L		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	268					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CAGAAGTGGAAAAAAGAGGCT	0.383									Bardet-Biedl syndrome																																								0													61	53	56					12																	76740961		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.804T>G	12.37:g.76740961A>C	ENSP00000376946:p.Phe268Leu		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.F268L	ENST00000393262.3	37	c.804	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	A	1.234	-0.623280	0.03636	.	.	ENSG00000179941	ENST00000393262	T	0.78246	-1.16	5.13	2.72	0.32119	.	0.260252	0.31872	N	0.006939	T	0.59293	0.2183	L	0.41415	1.275	0.09310	N	0.999999	B	0.12013	0.005	B	0.16289	0.015	T	0.42413	-0.9453	10	0.02654	T	1	-11.7139	4.3812	0.11295	0.4528:0.3189:0.2284:0.0	.	268	Q8TAM1	BBS10_HUMAN	L	268	ENSP00000376946:F268L	ENSP00000376946:F268L	F	-	3	2	BBS10	75265092	1.000000	0.71417	0.795000	0.32087	0.694000	0.40290	0.963000	0.29293	0.486000	0.27676	0.528000	0.53228	TTT	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.383	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	A	NM_024685		76740961	-1	no_errors	ENST00000393262	ensembl	human	known	70_37	missense	SNP	0.165	C	C	76740961	A	C	76740961	3	2	131	1	0	0	0	0	1	0	0	0	1337	11	1	5	1371	5	BBS10	12	76740961	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	655	76740961	57110934	1341	21481										
ZDHHC17	23390	genome.wustl.edu	37	chr12	77235776	77235776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggcacatctcaactttttaTttatccatcttccattcctt	2	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:77235776T>G	ENST00000426126.2	+	11	1805	c.1156T>G	c.(1156-1158)Ttt>Gtt	p.F386V	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F386V|ZDHHC17_ENST00000550789.1_Intron	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	386					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CAACTTTTTATTTATCCATCT	0.289																																																	0													96	82	87					12																	77235776		1801	4074	5875	SO:0001583	missense	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1156T>G	12.37:g.77235776T>G	ENSP00000403397:p.Phe386Val		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt	p.F386V	ENST00000426126.2	37	c.1156	CCDS44946.1	12	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631990	0.29068	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.35605	1.3;1.3	5.27	5.27	0.74061	.	0.569138	0.20389	N	0.093290	T	0.20861	0.0502	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.07558	-1.0766	10	0.19147	T	0.46	-2.0957	15.477	0.75489	0.0:0.0:0.0:1.0	.	386	Q8IUH5	ZDH17_HUMAN	V	386	ENSP00000403397:F386V;ENSP00000334868:F386V	ENSP00000334868:F386V	F	+	1	0	ZDHHC17	75759907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.905000	0.69893	2.099000	0.63709	0.477000	0.44152	TTT	ZDHHC17	-	NULL		0.289	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC17	HGNC	protein_coding	OTTHUMT00000406555.1	T	NM_015336		77235776	1	no_errors	ENST00000334822	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77235776	T	G	77235776	3	3	131	1	0	0	0	0	1	0	0	0	17637	1493	52	5	1198	5	ZDHHC17	12	77235776	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	494815	77235776	56616119	1342	21482										
NAV3	89795	genome.wustl.edu	37	chr12	78444581	78444581	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgacagcactgtgacaacaGaagttaatggaaggaccata	10	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:78444581G>T	ENST00000397909.2	+	11	2343	c.2170G>T	c.(2170-2172)Gaa>Taa	p.E724*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.E724*|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E724*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E724*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	724						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTGACAACAGAAGTTAATGG	0.493										HNSCC(70;0.22)																																							0													138	129	132					12																	78444581		1962	4158	6120	SO:0001587	stop_gained	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2170G>T	12.37:g.78444581G>T	ENSP00000381007:p.Glu724*		Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E724*	ENST00000397909.2	37	c.2170		12	.	.	.	.	.	.	.	.	.	.	G	41	8.637091	0.98895	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.79	5.79	0.91817	.	0.000000	0.41294	U	0.000917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.4438	20.031	0.97536	0.0:0.0:1.0:0.0	.	.	.	.	X	724	.	ENSP00000228327:E724X	E	+	1	0	NAV3	76968712	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.425000	0.97467	2.735000	0.93741	0.655000	0.94253	GAA	NAV3	-	NULL		0.493	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444581	1	no_errors	ENST00000397909	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	78444581	G	T	78444581	4	4	131	1	0	0	0	0	0	1	0	0	10208	943	33	3	2212	3	NAV3	12	78444581	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1208805	78444581	55407314	1343	21483										
C12orf64	283310	genome.wustl.edu	37	chr12	80613628	80613628	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatgccttaatggagctttCtgttctaagactggaacatg	10	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80613628C>T	ENST00000547103.1	+	5	249	c.243C>T	c.(241-243)ttC>ttT	p.F81F	OTOGL_ENST00000458043.2_Silent_p.F81F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	81					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGGAGCTTTCTGTTCTAAGA	0.373																																																	0													72	65	67					12																	80613628		1812	4091	5903	SO:0001819	synonymous_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.243C>T	12.37:g.80613628C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.F81	ENST00000547103.1	37	c.243		12																																																																																			OTOGL	-	NULL		0.373	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80613628	1	no_errors	ENST00000458043	ensembl	human	known	70_37	silent	SNP	1.000	T	T	80613628	C	T	80613628	2	4	131	1	0	0	0	0	0	0	0	1	1711	912	32	1		1	C12orf64	12	80613628	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2169047	80613628	53238267	1344	21484										
C12orf64	283310	genome.wustl.edu	37	chr12	80658837	80658837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctctttgctccttgccacAtctatattagccctgggctg	8	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80658837A>C	ENST00000547103.1	+	19	2050	c.2044A>C	c.(2044-2046)Atc>Ctc	p.I682L	OTOGL_ENST00000458043.2_Missense_Mutation_p.I682L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	682	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCTTGCCACATCTATATTAG	0.488																																																	0													187	188	188					12																	80658837		2042	4210	6252	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2044A>C	12.37:g.80658837A>C	ENSP00000447211:p.Ile682Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I682L	ENST00000547103.1	37	c.2044		12	.	.	.	.	.	.	.	.	.	.	A	4.032	0.003478	0.07866	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.75821	-0.97;-0.97	6.17	-8.57	0.00900	.	.	.	.	.	T	0.37019	0.0988	N	0.01242	-0.935	0.09310	N	1	.	.	.	.	.	.	T	0.39522	-0.9610	7	0.27785	T	0.31	.	7.2424	0.26104	0.5242:0.0:0.2604:0.2154	.	.	.	.	L	682	ENSP00000447211:I682L;ENSP00000400895:I682L	ENSP00000400895:I682L	I	+	1	0	OTOGL	79182968	0.000000	0.05858	0.021000	0.16686	0.316000	0.28119	-0.398000	0.07259	-2.357000	0.00612	-0.242000	0.12053	ATC	OTOGL	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.488	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	A	NM_173591		80658837	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.060	C	C	80658837	A	C	80658837	3	2	131	1	0	0	0	0	1	0	0	0	1711	217	8	5	2118	5	C12orf64	12	80658837	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	45209	80658837	53193058	1345	21485										
C12orf64	283310	genome.wustl.edu	37	chr12	80764416	80764416	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaactgatgaaggagcaataAttctgaactacacaatggtc	8	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80764416A>C	ENST00000547103.1	+	55	6625	c.6619A>C	c.(6619-6621)Att>Ctt	p.I2207L	OTOGL_ENST00000458043.2_Missense_Mutation_p.I2219L|OTOGL_ENST00000546620.1_Missense_Mutation_p.I238L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2207					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGGAGCAATAATTCTGAACTA	0.313																																																	0													147	144	145					12																	80764416		2203	4300	6503	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6619A>C	12.37:g.80764416A>C	ENSP00000447211:p.Ile2207Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I2219L	ENST00000547103.1	37	c.6655		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.690|1.690	-0.504192|-0.504192	0.04261|0.04261	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.44881|.	2.41;2.41;2.33;0.91|.	5.29|5.29	2.78|2.78	0.32641|0.32641	.|.	0.220694|.	0.37261|.	N|.	0.002169|.	T|.	0.24353|.	0.0590|.	N|N	0.26042|0.26042	0.785|0.785	0.23559|0.23559	N|N	0.99741|0.99741	B|.	0.10296|.	0.003|.	B|.	0.15052|.	0.012|.	T|.	0.19128|.	-1.0315|.	10|.	0.09084|.	T|.	0.74|.	.|.	4.6959|4.6959	0.12804|0.12804	0.63:0.1607:0.2093:0.0|0.63:0.1607:0.2093:0.0	.|.	584|.	Q3ZCN5|.	OTOGL_HUMAN|.	L|Y	2207;2219;238;236|626	ENSP00000447211:I2207L;ENSP00000400895:I2219L;ENSP00000449094:I238L;ENSP00000449641:I236L|.	ENSP00000400895:I2219L|.	I|X	+|+	1|3	0|2	OTOGL|OTOGL	79288547|79288547	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.587000|0.587000	0.36485|0.36485	2.031000|2.031000	0.41117|0.41117	0.857000|0.857000	0.35407|0.35407	0.482000|0.482000	0.46254|0.46254	ATT|TAA	OTOGL	-	NULL		0.313	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	A	NM_173591		80764416	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.938	C	C	80764416	A	C	80764416	3	2	131	1	0	0	0	0	1	0	0	0	1711	101	4	5	6873	5	C12orf64	12	80764416	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	105579	80764416	53087479	1346	21486										
MYF6	4618	genome.wustl.edu	37	chr12	81101643	81101643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccccctgccaggaccaaatgCccccggaagcggggagcgac	13	17	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:81101643C>T	ENST00000228641.3	+	1	367	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	49					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GGACCAAATGCCCCCGGAAGC	0.617																																																	0													60	65	63					12																	81101643		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.145C>T	12.37:g.81101643C>T	ENSP00000228641:p.Pro49Ser		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.P49S	ENST00000228641.3	37	c.145	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718260	0.30503	.	.	ENSG00000111046	ENST00000228641	D	0.95980	-3.87	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.210300	0.49916	D	0.000127	D	0.93930	0.8057	L	0.43923	1.385	0.58432	D	0.999998	P	0.36683	0.565	B	0.43413	0.419	D	0.92003	0.5612	10	0.21540	T	0.41	.	15.9554	0.79884	0.0:0.8652:0.1348:0.0	.	49	P23409	MYF6_HUMAN	S	49	ENSP00000228641:P49S	ENSP00000228641:P49S	P	+	1	0	MYF6	79625774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.601000	0.61090	2.662000	0.90505	0.655000	0.94253	CCC	MYF6	-	pfam_Basic,smart_Basic		0.617	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	C	NM_002469		81101643	1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81101643	C	T	81101643	3	4	131	1	0	0	0	0	1	0	0	0	10051	739	26	4	147	4	MYF6	12	81101643	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	337227	81101643	52750252	1347	21487										
PPFIA2	8499	genome.wustl.edu	37	chr12	81747087	81747087	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtactccaatctgttgagttCtattccactcgtgatcccca	6	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:81747087C>A	ENST00000549396.1	-	17	1965	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R528I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R602I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R584I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R584I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R169I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R449I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R503I|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R602I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R602I	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	602					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTGTTGAGTTCTATTCCACTC	0.353																																																	0													132	123	126					12																	81747087		1876	4115	5991	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1805G>T	12.37:g.81747087C>A	ENSP00000450337:p.Arg602Ile		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R602I	ENST00000549396.1	37	c.1805	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104874	0.56291	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.69907	-0.5018	10	0.72032	D	0.01	-10.5108	16.3026	0.82830	0.0:0.8675:0.1325:0.0	.	602	O75334	LIPA2_HUMAN	I	602;584;169;528;613;584;602;503;602;183	ENSP00000450337:R602I;ENSP00000450298:R584I;ENSP00000438337:R169I;ENSP00000385093:R528I;ENSP00000327416:R584I;ENSP00000449338:R602I;ENSP00000388373:R503I;ENSP00000447868:R602I;ENSP00000448941:R183I	ENSP00000327416:R584I	R	-	2	0	PPFIA2	80271218	1.000000	0.71417	0.989000	0.46669	0.966000	0.64601	7.807000	0.86032	1.269000	0.44280	0.585000	0.79938	AGA	PPFIA2	-	NULL		0.353	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	C			81747087	-1	no_errors	ENST00000549396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81747087	C	A	81747087	3	1	131	1	0	0	0	0	1	0	0	0	12334	913	32	3	2032	3	PPFIA2	12	81747087	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	645444	81747087	52104808	1348	21488										
TMTC2	160335	genome.wustl.edu	37	chr12	83526008	83526008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtatccggctgctttgatgaAcctgggagccattctgcacc	11	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:83526008A>C	ENST00000321196.3	+	12	3058	c.2351A>C	c.(2350-2352)aAc>aCc	p.N784T	TMTC2_ENST00000549919.1_Missense_Mutation_p.N778T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	784					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTTTGATGAACCTGGGAGCC	0.498																																																	0													96	87	90					12																	83526008		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2351A>C	12.37:g.83526008A>C	ENSP00000322300:p.Asn784Thr		B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N784T	ENST00000321196.3	37	c.2351	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825481	0.50739	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.69806	-0.43;-0.43	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89775	0.3957	10	0.51188	T	0.08	-17.2493	14.738	0.69430	1.0:0.0:0.0:0.0	.	784	Q8N394	TMTC2_HUMAN	T	784;778;539	ENSP00000322300:N784T;ENSP00000447609:N778T	ENSP00000322300:N784T	N	+	2	0	TMTC2	82050139	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	9.279000	0.95777	2.086000	0.62901	0.482000	0.46254	AAC	TMTC2	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.498	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	A	NM_152588		83526008	1	no_errors	ENST00000321196	ensembl	human	known	70_37	missense	SNP	1.000	C	C	83526008	A	C	83526008	3	2	131	1	0	0	0	0	1	0	0	0	16291	43	2	5	2397	5	TMTC2	12	83526008	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1778921	83526008	50325887	1349	21489										
TSPAN19	144448	genome.wustl.edu	37	chr12	85411359	85411359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatccagtctgtgtaattaTgttggccacaacactgtaac	7	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:85411359T>C	ENST00000532498.2	-	7	550	c.470A>G	c.(469-471)cAt>cGt	p.H157R	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	157						integral component of membrane (GO:0016021)				ovary(1)	1						TGTGTAATTATGTTGGCCACA	0.308																																																	0													57	51	53					12																	85411359		1817	4078	5895	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.470A>G	12.37:g.85411359T>C	ENSP00000433816:p.His157Arg			Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.H157R	ENST00000532498.2	37	c.470	CCDS44949.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.708|2.708	-0.269531|-0.269531	0.05716|0.05716	.|.	.|.	ENSG00000231738|ENSG00000231738	ENST00000532498|ENST00000525452	T|.	0.78924|.	-1.22|.	4.77|4.77	2.49|2.49	0.30216|0.30216	Tetraspanin, EC2 domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.20261|.	0.043|.	B|.	0.23018|.	0.043|.	T|T	0.19712|0.19712	-1.0297|-1.0297	9|5	0.12766|.	T|.	0.61|.	.|.	5.167|5.167	0.15090|0.15090	0.0:0.2331:0.0:0.7669|0.0:0.2331:0.0:0.7669	.|.	157|.	P0C672|.	TSN19_HUMAN|.	R|V	157|6	ENSP00000433816:H157R|.	ENSP00000433816:H157R|.	H|I	-|-	2|1	0|0	TSPAN19|TSPAN19	83935490|83935490	0.890000|0.890000	0.30428|0.30428	0.038000|0.038000	0.18304|0.18304	0.497000|0.497000	0.33675|0.33675	0.825000|0.825000	0.27393|0.27393	0.955000|0.955000	0.37878|0.37878	0.524000|0.524000	0.50904|0.50904	CAT|ATA	TSPAN19	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.308	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	HGNC	protein_coding	OTTHUMT00000388240.2	T	NM_001100917		85411359	-1	no_errors	ENST00000532498	ensembl	human	known	70_37	missense	SNP	0.028	C	C	85411359	T	C	85411359	3	2	131	1	0	0	0	0	1	0	0	0	16674	1464	51	5	288	5	TSPAN19	12	85411359	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1885351	85411359	48440536	1350	21490										
CEP290	80184	genome.wustl.edu	37	chr12	88534775	88534775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgaaaaggtgtatcacattTtcttgcttttcactttttag	6	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:88534775T>G	ENST00000552810.1	-	3	481	c.138A>C	c.(136-138)gaA>gaC	p.E46D	TMTC3_ENST00000266712.6_5'Flank|CEP290_ENST00000309041.7_Missense_Mutation_p.E46D	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTATCACATTTTCTTGCTTTT	0.299																																																	0													85	79	80					12																	88534775		1816	4056	5872	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.138A>C	12.37:g.88534775T>G	ENSP00000448012:p.Glu46Asp		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.E46D	ENST00000552810.1	37	c.138	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997917	0.74818	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000550962	T;T;D	0.92099	-0.2;-0.2;-2.97	5.86	4.69	0.59074	.	0.057384	0.64402	N	0.000002	D	0.92463	0.7607	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89850	0.4009	10	0.25751	T	0.34	.	11.4997	0.50430	0.1345:0.0:0.0:0.8655	.	46	O15078	CE290_HUMAN	D	46	ENSP00000448012:E46D;ENSP00000308021:E46D;ENSP00000447623:E46D	ENSP00000308021:E46D	E	-	3	2	CEP290	87058906	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	2.325000	0.43840	1.006000	0.39211	0.482000	0.46254	GAA	CEP290	-	NULL		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	T	NM_025114		88534775	-1	no_errors	ENST00000309041	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88534775	T	G	88534775	3	3	131	1	0	0	0	0	1	0	0	0	3258	1838	64	5	7509	5	CEP290	12	88534775	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3123416	88534775	45317120	1351	21491										
TMTC3	160418	genome.wustl.edu	37	chr12	88589382	88589382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaagaaaagagttgctgctTtaaaaagactagaagagatt	10	3	0	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:88589382T>G	ENST00000266712.6	+	14	2921	c.2701T>G	c.(2701-2703)Tta>Gta	p.L901V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	902					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGTTGCTGCTTTAAAAAGACT	0.318																																																	0													56	57	57					12																	88589382		2203	4297	6500	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2701T>G	12.37:g.88589382T>G	ENSP00000266712:p.Leu901Val		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L901V	ENST00000266712.6	37	c.2701	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161388	0.57368	.	.	ENSG00000139324	ENST00000266712	T	0.70045	-0.45	5.42	4.27	0.50696	.	0.000000	0.64402	D	0.000001	T	0.68824	0.3043	L	0.27053	0.805	0.42178	D	0.991676	D	0.71674	0.998	D	0.77557	0.99	T	0.69157	-0.5219	10	0.51188	T	0.08	-9.299	9.3627	0.38206	0.0:0.1457:0.0:0.8543	.	901	Q6ZXV5-2	.	V	901	ENSP00000266712:L901V	ENSP00000266712:L901V	L	+	1	2	TMTC3	87113513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.884000	0.39668	0.998000	0.38996	0.482000	0.46254	TTA	TMTC3	-	NULL		0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	T	NM_181783		88589382	1	no_errors	ENST00000266712	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88589382	T	G	88589382	3	3	131	1	0	0	0	0	1	0	0	0	16292	1838	64	5	2751	5	TMTC3	12	88589382	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	54607	88589382	45262513	1352	21492										
ATP2B1	490	genome.wustl.edu	37	chr12	90005126	90005126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagtaattccagccctctgAcactttttaattgcatctgg	6	11	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:90005126A>C	ENST00000428670.3	-	13	2547	c.2091T>G	c.(2089-2091)tgT>tgG	p.C697W	ATP2B1_ENST00000393164.2_Missense_Mutation_p.C440W|ATP2B1_ENST00000359142.3_Missense_Mutation_p.C697W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.C697W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.C697W			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	697					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAGCCCTCTGACACTTTTTAA	0.363																																																	0													147	154	152					12																	90005126		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2091T>G	12.37:g.90005126A>C	ENSP00000392043:p.Cys697Trp		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.C697W	ENST00000428670.3	37	c.2091	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465918	0.63625	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.88	1.84	0.25277	.	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.99705	4.715	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.91635	0.88;0.996;0.999	D	0.97354	0.9965	10	0.87932	D	0	-30.3882	9.3884	0.38359	0.6584:0.0:0.3416:0.0	.	697;697;697	P20020-3;P20020-2;P20020-6	.;.;.	W	697;697;697;697;440	ENSP00000261173:C697W;ENSP00000343599:C697W;ENSP00000352054:C697W;ENSP00000392043:C697W;ENSP00000376869:C440W	ENSP00000261173:C697W	C	-	3	2	ATP2B1	88529257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.304000	0.33482	0.400000	0.25396	0.533000	0.62120	TGT	ATP2B1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.363	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	A	NM_001682		90005126	-1	no_errors	ENST00000261173	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90005126	A	C	90005126	3	2	131	1	0	0	0	0	1	0	0	0	1140	273	10	5	1765	5	ATP2B1	12	90005126	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1415744	90005126	43846769	1353	21493										
EPYC	1833	genome.wustl.edu	37	chr12	91366698	91366698	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggaggaatagcatcaagttCatggtcatcacagtacacgg	11	9	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:91366698C>A	ENST00000261172.3	-	4	492	c.400G>T	c.(400-402)Gaa>Taa	p.E134*		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	134	LRRNT.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GCATCAAGTTCATGGTCATCA	0.353																																																	0													152	157	155					12																	91366698		2203	4300	6503	SO:0001587	stop_gained	1833			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.400G>T	12.37:g.91366698C>A	ENSP00000261172:p.Glu134*		A8K3M7|Q8NEJ5	Nonsense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E134*	ENST00000261172.3	37	c.400	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783607	0.90282	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	.	.	.	5.98	5.98	0.97165	.	0.255009	0.47093	D	0.000254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.6203	0.62134	0.0:0.9294:0.0:0.0706	.	.	.	.	X	134	.	ENSP00000261172:E134X	E	-	1	0	EPYC	89890829	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.746000	0.55127	2.838000	0.97847	0.655000	0.94253	GAA	EPYC	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.353	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	C	NM_004950		91366698	-1	no_errors	ENST00000261172	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	91366698	C	A	91366698	4	1	131	1	0	0	0	0	0	1	0	0	5213	835	29	3	584	3	EPYC	12	91366698	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1361572	91366698	42485197	1354	21494										
KERA	11081	genome.wustl.edu	37	chr12	91449677	91449677	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctagctcattatcttccaGaaataagaagagcaacttct	5	10	4	3	rs554112369		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:91449677G>T	ENST00000266719.3	-	2	629	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	128					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTATCTTCCAGAAATAAGAAG	0.393																																																	0													133	126	129					12																	91449677		2203	4299	6502	SO:0001583	missense	11081			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.382C>A	12.37:g.91449677G>T	ENSP00000266719:p.Leu128Met			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L128M	ENST00000266719.3	37	c.382	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438208	0.43326	.	.	ENSG00000139330	ENST00000266719	T	0.75367	-0.93	6.08	5.19	0.71726	.	0.050727	0.85682	D	0.000000	T	0.76870	0.4048	M	0.62016	1.91	0.47245	D	0.999364	P	0.38223	0.623	P	0.46917	0.531	T	0.75331	-0.3355	10	0.36615	T	0.2	-10.3474	11.5193	0.50541	0.1366:0.0:0.8634:0.0	.	128	O60938	KERA_HUMAN	M	128	ENSP00000266719:L128M	ENSP00000266719:L128M	L	-	1	2	KERA	89973808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.184000	0.58323	1.584000	0.49913	0.655000	0.94253	CTG	KERA	-	smart_Leu-rich_rpt_typical-subtyp		0.393	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	G	NM_007035		91449677	-1	no_errors	ENST00000266719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91449677	G	T	91449677	3	4	131	1	0	0	0	0	1	0	0	0	8163	933	33	3	684	3	KERA	12	91449677	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	82979	91449677	42402218	1355	21495										
PLXNC1	10154	genome.wustl.edu	37	chr12	94699043	94699043	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcttatttgatgaaaagaaGaaatgcaagtggatgtaagc	11	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:94699043G>T	ENST00000258526.4	+	31	4938	c.4689G>T	c.(4687-4689)aaG>aaT	p.K1563N	PLXNC1_ENST00000545312.1_Missense_Mutation_p.K302N|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K610N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1563					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATGAAAAGAAGAAATGCAAGT	0.418																																																	0													63	61	62					12																	94699043		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4689G>T	12.37:g.94699043G>T	ENSP00000258526:p.Lys1563Asn		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.K1563N	ENST00000258526.4	37	c.4689	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529035	0.44969	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.47869	3.03;2.44;0.83	6.11	6.11	0.99139	.	0.096626	0.64402	D	0.000002	T	0.53530	0.1802	L	0.27053	0.805	0.54753	D	0.999988	D;D	0.76494	0.998;0.999	D;D	0.80764	0.981;0.994	T	0.49634	-0.8919	10	0.39692	T	0.17	.	11.5827	0.50900	0.1203:0.0:0.8797:0.0	.	610;1563	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1563;610;302	ENSP00000258526:K1563N;ENSP00000446720:K610N;ENSP00000439225:K302N	ENSP00000258526:K1563N	K	+	3	2	PLXNC1	93223174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.746000	0.47467	2.906000	0.99361	0.655000	0.94253	AAG	PLXNC1	-	NULL		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94699043	1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94699043	G	T	94699043	3	4	131	1	0	0	0	0	1	0	0	0	12150	933	33	3	4811	3	PLXNC1	12	94699043	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3249366	94699043	39152852	1356	21496										
TMCC3	57458	genome.wustl.edu	37	chr12	94965289	94965289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatatagcaagaagagtcacGgcaaagaaggtgccaagaat	11	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:94965289G>A	ENST00000261226.4	-	4	1487	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	TMCC3_ENST00000551457.1_Silent_p.A421A	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	452						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAAGAGTCACGGCAAAGAAGG	0.463																																																	0													162	150	154					12																	94965289		2203	4300	6503	SO:0001819	synonymous_variant	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1356C>T	12.37:g.94965289G>A			Q8IWB2	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.A452	ENST00000261226.4	37	c.1356	CCDS31877.1	12																																																																																			TMCC3	-	pfam_Predicted_TM_coiled-coil_2		0.463	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	G	NM_020698		94965289	-1	no_errors	ENST00000261226	ensembl	human	known	70_37	silent	SNP	0.665	A	A	94965289	G	A	94965289	2	1	131	1	0	0	0	0	0	0	0	1	16024	1103	39	2		2	TMCC3	12	94965289	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	266246	94965289	38886606	1357	21497										
CCDC38	120935	genome.wustl.edu	37	chr12	96300199	96300199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtctctctggtcattaataAattcatggacagtccttttt	6	8	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:96300199A>C	ENST00000344280.3	-	5	892	c.335T>G	c.(334-336)tTt>tGt	p.F112C		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	112										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCATTAATAAATTCATGGAC	0.343																																																	0													81	77	79					12																	96300199		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.335T>G	12.37:g.96300199A>C	ENSP00000345470:p.Phe112Cys		Q8N835	Missense_Mutation	SNP	NULL	p.F112C	ENST00000344280.3	37	c.335	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655215	0.67472	.	.	ENSG00000165972	ENST00000344280	T	0.21361	2.01	4.98	4.98	0.66077	.	0.207947	0.42420	D	0.000706	T	0.46776	0.1410	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50634	-0.8805	10	0.87932	D	0	-18.6485	10.9763	0.47467	1.0:0.0:0.0:0.0	.	112	Q502W7	CCD38_HUMAN	C	112	ENSP00000345470:F112C	ENSP00000345470:F112C	F	-	2	0	CCDC38	94824330	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.007000	0.57093	2.093000	0.63338	0.459000	0.35465	TTT	CCDC38	-	NULL		0.343	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	A	NM_182496		96300199	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96300199	A	C	96300199	3	2	131	1	0	0	0	0	1	0	0	0	2815	14	1	5	1404	5	CCDC38	12	96300199	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1334910	96300199	37551696	1358	21498										
CDK17	5128	genome.wustl.edu	37	chr12	96676323	96676323	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattcttggtcccagacttcGaaagtacacatgtttcatgg	8	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:96676323G>A	ENST00000261211.3	-	15	2023	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CDK17_ENST00000543119.2_Nonsense_Mutation_p.R474*|CDK17_ENST00000542666.1_Nonsense_Mutation_p.R421*	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	474					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CCCAGACTTCGAAAGTACACA	0.378																																																	0													131	123	126					12																	96676323		2203	4300	6503	SO:0001587	stop_gained	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1420C>T	12.37:g.96676323G>A	ENSP00000261211:p.Arg474*		A8K1U6|B2RCQ2|Q8NEB8	Nonsense_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.R474*	ENST00000261211.3	37	c.1420	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.696509	0.99241	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	6.16	6.16	0.99307	.	0.052438	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0611	15.4294	0.75081	0.0:0.0:0.8295:0.1705	.	.	.	.	X	474;474;421	.	ENSP00000261211:R474X	R	-	1	2	CDK17	95200454	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.863000	0.39459	2.937000	0.99478	0.650000	0.86243	CGA	CDK17	-	superfamily_Kinase-like_dom		0.378	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	G	NM_002595		96676323	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	96676323	G	A	96676323	4	1	131	1	0	0	0	0	0	1	0	0	3138	1066	37	1	201	1	CDK17	12	96676323	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	376124	96676323	37175572	1359	21499										
C12orf63	144535	genome.wustl.edu	37	chr12	97102431	97102431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttgcctgcagttctggttAcaattggccaaccacatctc	8	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:97102431A>G	ENST00000524981.4	+	48	6597	c.6574A>G	c.(6574-6576)Aca>Gca	p.T2192A				Q96N23	CL055_HUMAN		0																	AGTTCTGGTTACAATTGGCCA	0.303																																																	0													79	81	80					12																	97102431		2203	4299	6502	SO:0001583	missense	144535																														ENST00000524981.4:c.6574A>G	12.37:g.97102431A>G	ENSP00000431759:p.Thr2192Ala			Missense_Mutation	SNP	NULL	p.T617A	ENST00000524981.4	37	c.1849		12	.	.	.	.	.	.	.	.	.	.	A	14.36	2.510816	0.44660	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.02	0.623	0.17654	.	0.623617	0.14346	N	0.325423	T	0.26521	0.0648	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.25291	0.059	T	0.17048	-1.0382	8	0.40728	T	0.16	-4.8926	4.6169	0.12432	0.3685:0.156:0.0:0.4755	.	617	Q6ZTY8	CL063_HUMAN	A	2192;617	.	ENSP00000345466:T617A	T	+	1	0	C12orf63	95626562	0.000000	0.05858	0.042000	0.18584	0.897000	0.52465	-0.145000	0.10265	0.723000	0.32274	0.374000	0.22700	ACA	C12orf55	-	NULL		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	A			97102431	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.003	G	G	97102431	A	G	97102431	3	3	131	1	0	0	0	0	1	0	0	0	1710	391	14	5	1903	5	C12orf63	12	97102431	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	426108	97102431	36749464	1360	21500										
C12orf63	144535	genome.wustl.edu	37	chr12	97112265	97112265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttcattttataatcttacaAaacttaaagatgagatcact	4	6	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:97112265A>C	ENST00000524981.4	+	49	6792	c.6769A>C	c.(6769-6771)Aaa>Caa	p.K2257Q				Q96N23	CL055_HUMAN		0																	TAATCTTACAAAACTTAAAGA	0.303																																																	0													65	68	67					12																	97112265		2201	4298	6499	SO:0001583	missense	144535																														ENST00000524981.4:c.6769A>C	12.37:g.97112265A>C	ENSP00000431759:p.Lys2257Gln			Missense_Mutation	SNP	NULL	p.K682Q	ENST00000524981.4	37	c.2044		12	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719511	0.30503	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.63	2.1	0.27182	.	0.308893	0.27936	N	0.017246	T	0.29158	0.0725	.	.	.	0.09310	N	1	B	0.22909	0.077	B	0.20767	0.031	T	0.16660	-1.0395	8	0.42905	T	0.14	-6.0827	8.9356	0.35697	0.634:0.366:0.0:0.0	.	682	Q6ZTY8	CL063_HUMAN	Q	2257;682	.	ENSP00000345466:K682Q	K	+	1	0	C12orf63	95636396	0.038000	0.19896	0.001000	0.08648	0.192000	0.23643	1.385000	0.34408	0.197000	0.20387	0.172000	0.16884	AAA	C12orf55	-	NULL		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	A			97112265	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.003	C	C	97112265	A	C	97112265	3	2	131	1	0	0	0	0	1	0	0	0	1710	15	1	5	2102	5	C12orf63	12	97112265	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	9834	97112265	36739630	1361	21501										
TMPO	7112	genome.wustl.edu	37	chr12	98938791	98938791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attctgccaatcactgaattCtcagacatacccagaagagc	6	12	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:98938791C>A	ENST00000556029.1	+	7	1298	c.942C>A	c.(940-942)ttC>ttA	p.F314L	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Missense_Mutation_p.F274L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	314	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCACTGAATTCTCAGACATAC	0.373																																																	0													102	96	98					12																	98938791		2203	4300	6503	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.942C>A	12.37:g.98938791C>A	ENSP00000450627:p.Phe314Leu		A2T926|Q14861	Missense_Mutation	SNP	pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.F314L	ENST00000556029.1	37	c.942	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940060	0.18281	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000556678	T;T;T	0.72615	0.3;0.3;-0.67	5.53	4.64	0.57946	.	.	.	.	.	T	0.61515	0.2353	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55866	-0.8073	9	0.17369	T	0.5	.	14.2731	0.66164	0.0:0.9284:0.0:0.0716	.	314	P42167	LAP2B_HUMAN	L	314;274;149	ENSP00000450627:F314L;ENSP00000340251:F274L;ENSP00000451552:F149L	ENSP00000340251:F314L	F	+	3	2	TMPO	97462922	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.059000	0.64306	1.341000	0.45600	0.591000	0.81541	TTC	TMPO	-	NULL		0.373	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	C	NM_003276		98938791	1	no_errors	ENST00000556029	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98938791	C	A	98938791	3	1	131	1	0	0	0	0	1	0	0	0	16267	912	32	3	2492	3	TMPO	12	98938791	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1826526	98938791	34913104	1362	21502										
SLC5A8	160728	genome.wustl.edu	37	chr12	101551157	101551157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcttccactggatgtgatTtatagctcaaaacatgcttc	6	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:101551157T>G	ENST00000536262.2	-	15	2291	c.1733A>C	c.(1732-1734)aAa>aCa	p.K578T		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGATGTGATTTATAGCTCAA	0.368																																					GBM(60;420 1056 13605 22380 47675)												0													108	92	97					12																	101551157		2202	4300	6502	SO:0001583	missense	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1733A>C	12.37:g.101551157T>G	ENSP00000445340:p.Lys578Thr			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.K578T	ENST00000536262.2	37	c.1733	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447843	0.26074	.	.	ENSG00000256870	ENST00000536262	D	0.86164	-2.08	5.15	5.15	0.70609	.	0.335696	0.30781	N	0.008886	D	0.83031	0.5166	M	0.64997	1.995	0.27859	N	0.940479	B	0.29341	0.242	B	0.24701	0.055	T	0.71451	-0.4589	10	0.14252	T	0.57	.	12.806	0.57614	0.0:0.0:0.0:1.0	.	578	Q8N695	SC5A8_HUMAN	T	578	ENSP00000445340:K578T	ENSP00000445340:K578T	K	-	2	0	SLC5A8	100075288	1.000000	0.71417	0.903000	0.35520	0.064000	0.16182	3.486000	0.53215	2.081000	0.62600	0.533000	0.62120	AAA	SLC5A8	-	NULL		0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	T	NM_145913		101551157	-1	no_errors	ENST00000536262	ensembl	human	known	70_37	missense	SNP	0.474	G	G	101551157	T	G	101551157	3	3	131	1	0	0	0	0	1	0	0	0	14701	1841	64	5	103	5	SLC5A8	12	101551157	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2612366	101551157	32300738	1363	21503										
UTP20	27340	genome.wustl.edu	37	chr12	101674919	101674919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacatttgctgaacgactggGgaatgttaatattgatatta	9	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:101674919G>A	ENST00000261637.4	+	2	245	c.71G>A	c.(70-72)gGg>gAg	p.G24E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	24					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAACGACTGGGGAATGTTAAT	0.318																																																	0													80	81	81					12																	101674919		2203	4299	6502	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.71G>A	12.37:g.101674919G>A	ENSP00000261637:p.Gly24Glu		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.G24E	ENST00000261637.4	37	c.71	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587391	0.66105	.	.	ENSG00000120800	ENST00000261637	T	0.15487	2.42	4.9	4.0	0.46444	.	0.281880	0.33161	N	0.005202	T	0.11239	0.0274	N	0.19112	0.55	0.30843	N	0.735422	P	0.40144	0.704	B	0.41860	0.368	T	0.04855	-1.0922	10	0.02654	T	1	-15.5395	13.8002	0.63194	0.0:0.2928:0.7072:0.0	.	24	O75691	UTP20_HUMAN	E	24	ENSP00000261637:G24E	ENSP00000261637:G24E	G	+	2	0	UTP20	100199050	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.290000	0.65661	1.033000	0.39918	0.655000	0.94253	GGG	UTP20	-	NULL		0.318	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101674919	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.998	A	A	101674919	G	A	101674919	3	1	131	1	0	0	0	0	1	0	0	0	17130	1232	43	4	77	4	UTP20	12	101674919	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	123762	101674919	32176976	1364	21504										
UTP20	27340	genome.wustl.edu	37	chr12	101683923	101683924	+	Frame_Shift_Ins	INS	-	-	A													0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatattttaggtctctgatINSaaaaacgcacttttcaattt							TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:101683923_101683924insA	ENST00000261637.4	+	7	780_781	c.606_607insA	c.(607-609)aaafs	p.K203fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	203					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGGTCTCTGATAAAAACGCACT	0.287																																																	0																																										SO:0001589	frameshift_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.611dupA	12.37:g.101683928_101683928dupA	ENSP00000261637:p.Lys203fs		Q9H3H4	Frame_Shift_Ins	INS	pfam_DRIM,superfamily_ARM-type_fold	p.N203fs	ENST00000261637.4	37	c.606_607	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold		0.287	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	NM_014503		101683924	1	no_errors	ENST00000261637	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	101683924	-	A	101683923	7	5	131	1	0	1	1	0	0	0	0	0	17130	1403	49	0	632	0	UTP20	12	101683923	Frame_Shift_Ins	INS	-	TCGA-FU-A3HZ-01A-11D-A20U-09	9004	101683923	32167972	1365	21505										
GNPTAB	79158	genome.wustl.edu	37	chr12	102164324	102164324	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtacctcagttcttcgttatCttcaaaacgactggcagaga	8	10	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102164324C>A	ENST00000299314.7	-	9	1235	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	GNPTAB_ENST00000549940.1_Missense_Mutation_p.D325Y|RP11-511H9.3_ENST00000600133.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	325					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCTTCGTTATCTTCAAAACGA	0.448																																																	0													72	63	66					12																	102164324		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.973G>T	12.37:g.102164324C>A	ENSP00000299314:p.Asp325Tyr		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.D325Y	ENST00000299314.7	37	c.973	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918367	0.92249	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.90620	-2.7;-2.7	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97744	1.0210	10	0.87932	D	0	-28.9804	19.8506	0.96738	0.0:1.0:0.0:0.0	.	325;325	Q3T906-2;Q3T906	.;GNPTA_HUMAN	Y	325	ENSP00000299314:D325Y;ENSP00000449150:D325Y	ENSP00000299314:D325Y	D	-	1	0	GNPTAB	100688455	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.395000	0.79876	2.686000	0.91538	0.655000	0.94253	GAT	GNPTAB	-	pfam_DUF3184		0.448	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102164324	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102164324	C	A	102164324	3	1	131	1	0	0	0	0	1	0	0	0	6564	913	32	3	2849	3	GNPTAB	12	102164324	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	480401	102164324	31687571	1366	21506										
CCDC53	51019	genome.wustl.edu	37	chr12	102439876	102439876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtttcaatttgttggatacGaagtgaaaggtctgccagtt	11	5	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102439876G>A	ENST00000240079.6	-	3	333	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.R58C	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	58						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)		p.R58C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294																																																	1	Substitution - Missense(1)	large_intestine(1)											47	43	44					12																	102439876		1796	4062	5858	SO:0001583	missense	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.172C>T	12.37:g.102439876G>A	ENSP00000240079:p.Arg58Cys		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	pfam_WASH_CCDC53	p.R58C	ENST00000240079.6	37	c.172	CCDS44959.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323109	0.81580	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.87547	2.89	0.80722	D	1	P;D	0.54207	0.836;0.965	B;B	0.43194	0.212;0.411	T	0.76828	-0.2815	9	0.52906	T	0.07	-11.4463	16.3866	0.83507	0.0:0.0:1.0:0.0	.	58;58	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	C	58;58;8	.	ENSP00000240079:R58C	R	-	1	0	CCDC53	100964006	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.063000	0.64332	2.659000	0.90383	0.655000	0.94253	CGT	CCDC53	-	pfam_WASH_CCDC53		0.294	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC53	HGNC	protein_coding	OTTHUMT00000398685.1	G	NM_016053		102439876	-1	no_errors	ENST00000240079	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102439876	G	A	102439876	3	1	131	1	0	0	0	0	1	0	0	0	2828	1058	37	1	363	1	CCDC53	12	102439876	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	275552	102439876	31412019	1367	21507										
C12orf48	55010	genome.wustl.edu	37	chr12	102559603	102559603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacatgtaaagggattgtctAattttattaatttcattgac	6	5	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102559603A>G	ENST00000358383.5	+	6	808	c.763A>G	c.(763-765)Aat>Gat	p.N255D	PARPBP_ENST00000392911.2_Missense_Mutation_p.N174D|PARPBP_ENST00000541394.1_Missense_Mutation_p.N332D|PARPBP_ENST00000543784.1_Missense_Mutation_p.N141D|PARPBP_ENST00000327680.2_Missense_Mutation_p.N174D|PARPBP_ENST00000378128.3_Missense_Mutation_p.N255D|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	255					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						GGGATTGTCTAATTTTATTAA	0.333																																																	0													99	103	102					12																	102559603		2203	4300	6503	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.763A>G	12.37:g.102559603A>G	ENSP00000351153:p.Asn255Asp		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	NULL	p.N255D	ENST00000358383.5	37	c.763	CCDS9090.2	12	.	.	.	.	.	.	.	.	.	.	A	11.59	1.685449	0.29872	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.95	1.0	0.19881	.	0.534694	0.24303	N	0.039708	T	0.26702	0.0653	L	0.39898	1.24	0.09310	N	0.999994	B;B;B;B;B	0.15473	0.005;0.013;0.001;0.002;0.004	B;B;B;B;B	0.14578	0.008;0.011;0.003;0.003;0.006	T	0.21075	-1.0256	10	0.15952	T	0.53	-1.1772	5.9777	0.19389	0.4342:0.3673:0.1985:0.0	.	141;332;255;255;255	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1	.;.;.;.;PR1BP_HUMAN	D	255;174;332;141;255;174;222;222	ENSP00000367368:N255D;ENSP00000332915:N174D;ENSP00000440850:N332D;ENSP00000444576:N141D;ENSP00000351153:N255D;ENSP00000376643:N174D;ENSP00000411313:N222D;ENSP00000393867:N222D	ENSP00000332915:N174D	N	+	1	0	C12orf48	101083733	0.022000	0.18835	0.963000	0.40424	0.986000	0.74619	0.966000	0.29331	-0.053000	0.13289	0.402000	0.26972	AAT	PARPBP	-	NULL		0.333	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	A	NM_017915		102559603	1	no_errors	ENST00000358383	ensembl	human	known	70_37	missense	SNP	0.420	G	G	102559603	A	G	102559603	3	3	131	1	0	0	0	0	1	0	0	0	1696	362	13	5	534	5	C12orf48	12	102559603	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	119727	102559603	31292292	1368	21508										
C12orf48	55010	genome.wustl.edu	37	chr12	102576370	102576370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgataaaacccctaagagaaCgcatctgtgtgtcaatgcaa	8	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102576370C>T	ENST00000358383.5	+	9	1273	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PARPBP_ENST00000392911.2_Missense_Mutation_p.R329C|PARPBP_ENST00000541394.1_Missense_Mutation_p.R487C|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.R329C|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	410					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CCTAAGAGAACGCATCTGTGT	0.313																																																	0													59	60	60					12																	102576370		2203	4300	6503	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1228C>T	12.37:g.102576370C>T	ENSP00000351153:p.Arg410Cys		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	NULL	p.R410C	ENST00000358383.5	37	c.1228	CCDS9090.2	12	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141973	0.57044	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.64260	0.85;0.85;0.85;0.85;-0.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.80549	-0.1333	10	0.87932	D	0	-1.1863	15.3071	0.74001	0.0:1.0:0.0:0.0	.	487;289;410	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	C	329;487;410;329;256	ENSP00000332915:R329C;ENSP00000440850:R487C;ENSP00000351153:R410C;ENSP00000376643:R329C;ENSP00000411313:R256C	ENSP00000332915:R329C	R	+	1	0	C12orf48	101100500	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	3.974000	0.56852	2.762000	0.94881	0.591000	0.81541	CGC	PARPBP	-	NULL		0.313	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	C	NM_017915		102576370	1	no_errors	ENST00000358383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102576370	C	T	102576370	3	4	131	1	0	0	0	0	1	0	0	0	1696	536	19	2	1011	2	C12orf48	12	102576370	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	16767	102576370	31275525	1369	21509										
STAB2	55576	genome.wustl.edu	37	chr12	104151983	104151983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccaacagctcagctcgaggCcgtgcatttctagaacacct	8	14	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:104151983C>T	ENST00000388887.2	+	64	7227	c.7023C>T	c.(7021-7023)ggC>ggT	p.G2341G	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGCTCGAGGCCGTGCATTTC	0.592																																																	0													123	90	101					12																	104151983		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7023C>T	12.37:g.104151983C>T				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2341	ENST00000388887.2	37	c.7023	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	4.354	0.065261	0.08388	.	.	ENSG00000136011	ENST00000258495	.	.	.	4.55	1.45	0.22620	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60021	-0.7344	5	0.87932	D	0	.	7.4066	0.26993	0.293:0.3837:0.3233:0.0	.	.	.	.	S	993	.	ENSP00000258495:P993S	P	+	1	0	STAB2	102676113	0.144000	0.22641	0.569000	0.28460	0.527000	0.34593	0.065000	0.14466	-0.021000	0.14009	0.561000	0.74099	CCG	STAB2	-	superfamily_FAS1_domain,pfscan_FAS1_domain		0.592	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	C			104151983	1	no_errors	ENST00000388887	ensembl	human	known	70_37	silent	SNP	0.362	T	T	104151983	C	T	104151983	2	4	131	1	0	0	0	0	0	0	0	1	15268	726	26	4		4	STAB2	12	104151983	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1575613	104151983	29699912	1370	21510										
NT5DC3	51559	genome.wustl.edu	37	chr12	104208767	104208767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattaaatatcagcgtgtggAggtgctttgaataaaacacc	9	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:104208767A>G	ENST00000392876.3	-	2	381	c.341T>C	c.(340-342)cTc>cCc	p.L114P		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	114						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAGCGTGTGGAGGTGCTTTGA	0.428																																																	0													172	158	163					12																	104208767		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.341T>C	12.37:g.104208767A>G	ENSP00000376615:p.Leu114Pro		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.L114P	ENST00000392876.3	37	c.341	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693537	0.88735	.	.	ENSG00000111696	ENST00000392876	T	0.27890	1.64	5.87	5.87	0.94306	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72301	-0.4334	10	0.87932	D	0	-35.0915	16.5764	0.84681	1.0:0.0:0.0:0.0	.	114	Q86UY8	NT5D3_HUMAN	P	114	ENSP00000376615:L114P	ENSP00000376615:L114P	L	-	2	0	NT5DC3	102732897	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	8.877000	0.92386	2.371000	0.80710	0.533000	0.62120	CTC	NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	A	NM_016575		104208767	-1	no_errors	ENST00000392876	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104208767	A	G	104208767	3	3	131	1	0	0	0	0	1	0	0	0	10716	304	11	5	1357	5	NT5DC3	12	104208767	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	56784	104208767	29643128	1371	21511										
GLT8D2	83468	genome.wustl.edu	37	chr12	104397061	104397061	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggaatctcttcttccagttCttcaggagtctcggattcat	8	10	6	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:104397061C>A	ENST00000360814.4	-	5	541	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	GLT8D2_ENST00000546436.1_Nonsense_Mutation_p.E46*|GLT8D2_ENST00000548660.1_Nonsense_Mutation_p.E46*	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	46						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCTTCCAGTTCTTCAGGAGTC	0.453																																																	0													173	148	157					12																	104397061		2203	4300	6503	SO:0001587	stop_gained	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.136G>T	12.37:g.104397061C>A	ENSP00000354053:p.Glu46*		Q96KA2	Nonsense_Mutation	SNP	pfam_Glyco_trans_8	p.E46*	ENST00000360814.4	37	c.136	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.553465	0.98355	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	.	.	.	5.73	5.73	0.89815	.	0.149550	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.503	0.95104	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000354053:E46X	E	-	1	0	GLT8D2	102921191	1.000000	0.71417	0.955000	0.39395	0.801000	0.45260	5.269000	0.65542	2.709000	0.92574	0.563000	0.77884	GAA	GLT8D2	-	NULL		0.453	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	C	NM_031302		104397061	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	104397061	C	A	104397061	4	1	131	1	0	0	0	0	0	1	0	0	6489	922	32	3	941	3	GLT8D2	12	104397061	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	188294	104397061	29454834	1372	21512										
C12orf45	121053	genome.wustl.edu	37	chr12	105382013	105382013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctccactcttcaaacagttCggatagagaggagtccctgt	9	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:105382013C>T	ENST00000552951.1	+	2	227	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	C12orf45_ENST00000280749.5_Missense_Mutation_p.R62W	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	62										large_intestine(1)|lung(2)	3						TCAAACAGTTCGGATAGAGAG	0.463																																																	0													94	86	89					12																	105382013		1882	4106	5988	SO:0001583	missense	121053			BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.184C>T	12.37:g.105382013C>T	ENSP00000447057:p.Arg62Trp			Missense_Mutation	SNP	NULL	p.R62W	ENST00000552951.1	37	c.184	CCDS41825.1	12	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554273	0.65425	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.58797	0.98;0.31	4.81	2.99	0.34606	.	0.052532	0.64402	D	0.000001	T	0.72614	0.3482	M	0.80982	2.52	0.43724	D	0.996206	D	0.89917	1.0	D	0.78314	0.991	T	0.72852	-0.4167	10	0.87932	D	0	-27.7342	7.8585	0.29495	0.0:0.8045:0.0:0.1955	.	62	Q8N5I9	CL045_HUMAN	W	62	ENSP00000447057:R62W;ENSP00000280749:R62W	ENSP00000280749:R62W	R	+	1	2	C12orf45	103906143	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	1.351000	0.34022	0.714000	0.32081	0.655000	0.94253	CGG	C12orf45	-	NULL		0.463	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf45	HGNC	protein_coding	OTTHUMT00000406076.1	C	NM_152318		105382013	1	no_errors	ENST00000552951	ensembl	human	known	70_37	missense	SNP	0.996	T	T	105382013	C	T	105382013	3	4	131	1	0	0	0	0	1	0	0	0	1695	875	31	1	190	1	C12orf45	12	105382013	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	984952	105382013	28469882	1373	21513										
KIAA1033	23325	genome.wustl.edu	37	chr12	105504914	105504914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaacttagaaattcatgccGaagtccaacttaagaattat	5	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:105504914G>A	ENST00000332180.5	+	2	160	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AATTCATGCCGAAGTCCAACT	0.358																																																	0													65	60	61					12																	105504914		1805	4064	5869	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.73G>A	12.37:g.105504914G>A	ENSP00000328062:p.Glu25Lys			Missense_Mutation	SNP	NULL	p.E25K	ENST00000332180.5	37	c.73	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372242	0.82573	.	.	ENSG00000136051	ENST00000332180	T	0.50001	0.76	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.45856	0.495;0.495	T	0.54748	-0.8247	10	0.66056	D	0.02	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	25;25	B7ZKT9;Q2M389	.;WASH7_HUMAN	K	25	ENSP00000328062:E25K	ENSP00000328062:E25K	E	+	1	0	KIAA1033	104029044	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.731000	0.98807	2.783000	0.95769	0.655000	0.94253	GAA	KIAA1033	-	NULL		0.358	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	G	NM_015275		105504914	1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105504914	G	A	105504914	3	1	131	1	0	0	0	0	1	0	0	0	8226	1059	37	1	79	1	KIAA1033	12	105504914	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	122901	105504914	28346981	1374	21514										
KIAA1033	23325	genome.wustl.edu	37	chr12	105538215	105538215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atccaattcggtttttcaatCgtttcattgacattcggggt	8	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:105538215C>T	ENST00000332180.5	+	21	2248	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTTTTTCAATCGTTTCATTGA	0.363																																																	0													114	108	110					12																	105538215		1804	4080	5884	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2161C>T	12.37:g.105538215C>T	ENSP00000328062:p.Arg721Cys			Missense_Mutation	SNP	NULL	p.R721C	ENST00000332180.5	37	c.2161	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099572	0.76983	.	.	ENSG00000136051	ENST00000332180	T	0.46451	0.87	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.49953	0.627;0.627	T	0.37572	-0.9700	10	0.42905	T	0.14	.	13.9237	0.63950	0.2654:0.7346:0.0:0.0	.	722;721	B7ZKT9;Q2M389	.;WASH7_HUMAN	C	721	ENSP00000328062:R721C	ENSP00000328062:R721C	R	+	1	0	KIAA1033	104062345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.694000	0.61760	2.872000	0.98467	0.650000	0.86243	CGT	KIAA1033	-	NULL		0.363	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	C	NM_015275		105538215	1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105538215	C	T	105538215	3	4	131	1	0	0	0	0	1	0	0	0	8226	884	31	1	2243	1	KIAA1033	12	105538215	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	33301	105538215	28313680	1375	21515										
POLR3B	55703	genome.wustl.edu	37	chr12	106830853	106830853	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaccctacataattgtcaaGaaacagaagccagcagtcac	7	11	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:106830853G>T	ENST00000228347.4	+	17	2022	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	POLR3B_ENST00000539066.1_Missense_Mutation_p.K542N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	600					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAATTGTCAAGAAACAGAAGC	0.383																																																	0													61	57	59					12																	106830853		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1800G>T	12.37:g.106830853G>T	ENSP00000228347:p.Lys600Asn		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.K600N	ENST00000228347.4	37	c.1800	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824431	0.50739	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.76839	-1.05;-1.05	6.03	5.14	0.70334	RNA polymerase Rpb2, domain 4 (1);	0.040874	0.85682	D	0.000000	T	0.61098	0.2320	N	0.10972	0.075	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.59553	-0.7433	10	0.72032	D	0.01	-27.6524	11.2043	0.48760	0.1387:0.0:0.8613:0.0	.	600	Q9NW08	RPC2_HUMAN	N	600;600;542	ENSP00000228347:K600N;ENSP00000445721:K542N	ENSP00000228347:K600N	K	+	3	2	POLR3B	105354983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.990000	0.63876	1.564000	0.49628	0.655000	0.94253	AAG	POLR3B	-	pfam_RNA_pol_Rpb2_4		0.383	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	G	NM_018082		106830853	1	no_errors	ENST00000228347	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106830853	G	T	106830853	3	4	131	1	0	0	0	0	1	0	0	0	12253	933	33	3	1866	3	POLR3B	12	106830853	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1292638	106830853	27021042	1376	21516										
MVK	4598	genome.wustl.edu	37	chr12	110032988	110032988	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcacactcctcaagccaggTatcccgggggtaggtgggcc	13	13	2	0	rs398122910		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:110032988T>C	ENST00000228510.3	+	10	1115		c.e10+2		MVK_ENST00000539575.1_Splice_Site|MVK_ENST00000541384.1_Splice_Site|MVK_ENST00000539696.1_Splice_Site|MVK_ENST00000392727.3_Splice_Site	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase						cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCAAGCCAGGTATCCCGGGGG	0.622																																																	0													36	40	39					12																	110032988		2203	4300	6503	SO:0001630	splice_region_variant	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.1039+2T>C	12.37:g.110032988T>C				Splice_Site	SNP	-	e9+2	ENST00000228510.3	37	c.1039+2	CCDS9132.1	12	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034165	0.75617	.	.	ENSG00000110921	ENST00000539696;ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384;ENST00000540353	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1272	0.42656	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MVK	108517371	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	6.665000	0.74442	1.896000	0.54893	0.460000	0.39030	.	MVK	-	-		0.622	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	T	NM_000431	Intron	110032988	1	no_errors	ENST00000228510	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	110032988	T	C	110032988	5	2	131	1	0	0	0	0	0	0	1	0	10018	1652	57	5	1075	5	MVK	12	110032988	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3202135	110032988	23818907	1377	21517										
RPH3A	22895	genome.wustl.edu	37	chr12	113325694	113325694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actgaagcccaaccagaggaAgaatttcaacatctgcctgg	9	11	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:113325694A>C	ENST00000389385.4	+	17	2026	c.1529A>C	c.(1528-1530)aAg>aCg	p.K510T	RPH3A_ENST00000548866.1_Missense_Mutation_p.K461T|RPH3A_ENST00000447659.2_Missense_Mutation_p.K461T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.K510T|RPH3A_ENST00000543106.2_Missense_Mutation_p.K510T|RPH3A_ENST00000551052.1_Missense_Mutation_p.K506T|RPH3A_ENST00000415485.3_Missense_Mutation_p.K510T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	510					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AACCAGAGGAAGAATTTCAAC	0.512																																																	0													156	160	158					12																	113325694		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1529A>C	12.37:g.113325694A>C	ENSP00000374036:p.Lys510Thr		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.K510T	ENST00000389385.4	37	c.1529	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400564	0.83120	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.2	5.2	0.72013	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000017	T	0.25344	0.0616	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.60575	0.988;0.98;0.98;0.988	D;P;P;D	0.64877	0.93;0.897;0.897;0.93	T	0.00780	-1.1569	10	0.39692	T	0.17	.	14.0751	0.64885	1.0:0.0:0.0:0.0	.	461;510;510;506	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	T	510;510;461;506;510;461;510;162	ENSP00000440384:K510T;ENSP00000374036:K510T;ENSP00000413254:K461T;ENSP00000448297:K506T;ENSP00000405357:K510T;ENSP00000450347:K461T;ENSP00000408889:K510T	ENSP00000374036:K510T	K	+	2	0	RPH3A	111810077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	1.978000	0.57642	0.482000	0.46254	AAG	RPH3A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.512	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	A	NM_014954		113325694	1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113325694	A	C	113325694	3	2	131	1	0	0	0	0	1	0	0	0	13581	72	3	5	1587	5	RPH3A	12	113325694	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3292706	113325694	20526201	1378	21518										
TBX5	6910	genome.wustl.edu	37	chr12	114793616	114793616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccgaggtgaagtgagcggaGaagtgctggtagggtagcct	18	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:114793616G>T	ENST00000310346.4	-	9	1944	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	TBX5_ENST00000405440.2_Missense_Mutation_p.F426L|TBX5_ENST00000349716.5_Missense_Mutation_p.F376L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	426				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGTGAGCGGAGAAGTGCTGGT	0.627																																					NSCLC(152;1358 1980 4050 23898 40356)												0													33	31	32					12																	114793616		2203	4300	6503	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1278C>A	12.37:g.114793616G>T	ENSP00000309913:p.Phe426Leu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F426L	ENST00000310346.4	37	c.1278	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.171762	0.94807	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.53640	0.61;0.61;0.61	4.99	4.99	0.66335	.	0.104187	0.64402	D	0.000002	T	0.47432	0.1445	M	0.74258	2.255	0.80722	D	1	P	0.43788	0.817	B	0.33750	0.169	T	0.56390	-0.7987	10	0.39692	T	0.17	.	18.2999	0.90160	0.0:0.0:1.0:0.0	.	426	Q99593	TBX5_HUMAN	L	376;426;323;426	ENSP00000337723:F376L;ENSP00000309913:F426L;ENSP00000384152:F426L	ENSP00000309913:F426L	F	-	3	2	TBX5	113277999	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.428000	0.66489	2.321000	0.78463	0.655000	0.94253	TTC	TBX5	-	NULL		0.627	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	G	NM_080717		114793616	-1	no_errors	ENST00000310346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114793616	G	T	114793616	3	4	131	1	0	0	0	0	1	0	0	0	15691	933	33	3	282	3	TBX5	12	114793616	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1467922	114793616	19058279	1379	21519										
NOS1	4842	genome.wustl.edu	37	chr12	117710211	117710211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccaggatattgtagcgggaGttgtcacagtagtcgcggac	14	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:117710211G>A	ENST00000338101.4	-	9	1822	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	NOS1_ENST00000317775.6_Silent_p.N606N|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTAGCGGGAGTTGTCACAGT	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													79	87	84					12																	117710211		2193	4296	6489	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1818C>T	12.37:g.117710211G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.N606	ENST00000338101.4	37	c.1818	CCDS55890.1	12																																																																																			NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	G			117710211	-1	no_errors	ENST00000317775	ensembl	human	known	70_37	silent	SNP	0.991	A	A	117710211	G	A	117710211	2	1	131	1	0	0	0	0	0	0	0	1	10565	1020	36	4		4	NOS1	12	117710211	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2916595	117710211	16141684	1380	21520										
RFC5	5985	genome.wustl.edu	37	chr12	118467597	118467597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgactttccatcttcagttcGaatacatttattgaccaaaa	4	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:118467597G>A	ENST00000454402.2	+	10	1011	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000392542.2_Missense_Mutation_p.R277Q|RFC5_ENST00000229043.3_Missense_Mutation_p.R213Q	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	298					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTCAGTTCGAATACATTTA	0.363																																																	0													253	230	238					12																	118467597		2203	4300	6503	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.893G>A	12.37:g.118467597G>A	ENSP00000408295:p.Arg298Gln		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.R298Q	ENST00000454402.2	37	c.893	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145368	0.77888	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.48201	0.82;0.82;0.82	4.97	4.97	0.65823	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.089768	0.53938	D	0.000047	T	0.44973	0.1319	M	0.64260	1.97	0.58432	D	0.999998	P;P;P	0.49253	0.921;0.921;0.921	B;B;B	0.36608	0.229;0.229;0.229	T	0.54146	-0.8337	10	0.49607	T	0.09	-3.6726	17.5331	0.87819	0.0:0.0:1.0:0.0	.	277;309;298	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	Q	213;298;277	ENSP00000229043:R213Q;ENSP00000408295:R298Q;ENSP00000376325:R277Q	ENSP00000229043:R213Q	R	+	2	0	RFC5	116951980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	2.735000	0.93741	0.655000	0.94253	CGA	RFC5	-	pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C		0.363	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	G	NM_007370		118467597	1	no_errors	ENST00000454402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118467597	G	A	118467597	3	1	131	1	0	0	0	0	1	0	0	0	13278	1058	37	1	937	1	RFC5	12	118467597	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	757386	118467597	15384298	1381	21521										
CIT	11113	genome.wustl.edu	37	chr12	120142196	120142196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcagtatttgctgaggtttTcgttgtagcggagaatgacg	14	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:120142196T>G	ENST00000261833.7	-	40	5202	c.5150A>C	c.(5149-5151)gAa>gCa	p.E1717A	CIT_ENST00000392521.2_Missense_Mutation_p.E1759A|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1717	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGAGGTTTTCGTTGTAGCG	0.507																																																	0													205	168	181					12																	120142196		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5150A>C	12.37:g.120142196T>G	ENSP00000261833:p.Glu1717Ala		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1717A	ENST00000261833.7	37	c.5150	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.195882|3.195882	0.58126|0.58126	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.05382|.	3.45;3.45|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Citron-like (3);|.	0.191280|.	0.43919|.	D|.	0.000503|.	T|T	0.50837|0.50837	0.1639|0.1639	N|N	0.19112|0.19112	0.55|0.55	0.44807|0.44807	D|D	0.997818|0.997818	B;B;B|.	0.33345|.	0.104;0.409;0.021|.	B;B;B|.	0.37550|.	0.06;0.253;0.013|.	T|T	0.48091|0.48091	-0.9065|-0.9065	10|5	0.39692|.	T|.	0.17|.	.|.	15.4378|15.4378	0.75160|0.75160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1759;1717;1235|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	A|Q	1759;1717|1330	ENSP00000376306:E1759A;ENSP00000261833:E1717A|.	ENSP00000261833:E1717A|.	E|K	-|-	2|1	0|0	CIT|CIT	118626579|118626579	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.986000|0.986000	0.74619|0.74619	6.220000|6.220000	0.72237|0.72237	2.054000|2.054000	0.61138|0.61138	0.482000|0.482000	0.46254|0.46254	GAA|AAA	CIT	-	pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase		0.507	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	T	NM_007174		120142196	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120142196	T	G	120142196	3	3	131	1	0	0	0	0	1	0	0	0	3443	1783	62	5	965	5	CIT	12	120142196	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1674599	120142196	13709699	1382	21522										
GATC	283459	genome.wustl.edu	37	chr12	120894916	120894916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgacaatgtggtagaaggcAactgtgctgatgaattacta	11	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:120894916A>G	ENST00000551806.1	+	4	386	c.386A>G	c.(385-387)cAa>cGa	p.Q129R	GATC_ENST00000551765.1_Missense_Mutation_p.N98D																							GGTAGAAGGCAACTGTGCTGA	0.498											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													141	113	122					12																	120894916		2203	4300	6503	SO:0001583	missense	283459																														ENST00000551806.1:c.386A>G	12.37:g.120894916A>G	ENSP00000450281:p.Gln129Arg	1507		Missense_Mutation	SNP	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.N98D	ENST00000551806.1	37	c.292		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.053640|2.053640	0.36277|0.36277	.|.	.|.	ENSG00000257218|ENSG00000111780	ENST00000551765;ENST00000229384|ENST00000551806	T|.	0.47528|.	0.84|.	5.6|5.6	3.15|3.15	0.36227|0.36227	.|.	0.342922|.	0.34200|.	N|.	0.004167|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.33189|0.33189	0.99|0.99	0.26673|0.26673	N|N	0.971693|0.971693	B|.	0.16166|.	0.016|.	B|.	0.15484|.	0.013|.	T|T	0.20840|0.20840	-1.0263|-1.0263	10|5	0.12766|.	T|.	0.61|.	-12.443|-12.443	10.2883|10.2883	0.43581|0.43581	0.8602:0.0:0.1398:0.0|0.8602:0.0:0.1398:0.0	.|.	98|.	O43716|.	GATC_HUMAN|.	D|R	98;21|129	ENSP00000446872:N98D|.	ENSP00000229384:N21D|.	N|Q	+|+	1|2	0|0	AL021546.1|GATC	119379299|119379299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	2.863000|2.863000	0.48396|0.48396	0.920000|0.920000	0.36970|0.36970	0.533000|0.533000	0.62120|0.62120	AAC|CAA	GATC	-	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu		0.498	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	GATC	HGNC	protein_coding	OTTHUMT00000403635.1	A			120894916	1	no_errors	ENST00000551765	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120894916	A	G	120894916	3	3	131	1	0	0	0	0	1	0	0	0	6281	130	5	5	302	5	GATC	12	120894916	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	752720	120894916	12956979	1383	21523										
ZCCHC8	55596	genome.wustl.edu	37	chr12	122967242	122967242	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaaacagtgaggctttggCctatttggtcaaaagacaaa	10	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:122967242C>A	ENST00000336229.4	-	8	802	c.672G>T	c.(670-672)agG>agT	p.R224S	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	224					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGCTTTGGCCTATTTGGTC	0.313																																																	0													39	39	39					12																	122967242		1796	4055	5851	SO:0001630	splice_region_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.672-1G>T	12.37:g.122967242C>A			Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.R224S	ENST00000336229.4	37	c.672		12	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723003	0.68959	.	.	ENSG00000033030	ENST00000336229	T	0.51325	0.71	5.48	3.3	0.37823	Zinc finger, CCHC retroviral-type (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	L	0.56769	1.78	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.62723	-0.6794	10	0.59425	D	0.04	.	10.5271	0.44954	0.0:0.7673:0.0:0.2327	.	224	Q6NZY4	ZCHC8_HUMAN	S	224	ENSP00000337313:R224S	ENSP00000337313:R224S	R	-	3	2	ZCCHC8	121533195	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.622000	0.54217	1.310000	0.45006	0.455000	0.32223	AGG	ZCCHC8	-	superfamily_Znf_CCHC		0.313	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		C	NM_017612	Missense_Mutation	122967242	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122967242	C	A	122967242	5	1	131	1	0	0	0	0	0	0	1	0	17624	753	26	4	1479	4	ZCCHC8	12	122967242	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2072326	122967242	10884653	1384	21524										
KNTC1	9735	genome.wustl.edu	37	chr12	123057714	123057714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacaaccaccatagtgttccGaatgtttgataaagtgctgg	9	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123057714G>A	ENST00000333479.7	+	26	2342	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.R685Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	722					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATAGTGTTCCGAATGTTTGAT	0.378																																																	0													122	119	120					12																	123057714		1844	4085	5929	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2165G>A	12.37:g.123057714G>A	ENSP00000328236:p.Arg722Gln		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R722Q	ENST00000333479.7	37	c.2165	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097697	0.56075	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.25085	1.82;2.33	5.45	5.45	0.79879	.	0.132610	0.53938	D	0.000056	T	0.47838	0.1467	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.927	T	0.17868	-1.0355	10	0.28530	T	0.3	-9.528	19.2801	0.94050	0.0:0.0:1.0:0.0	.	685;722	E7ES84;P50748	.;KNTC1_HUMAN	Q	685;722	ENSP00000397992:R685Q;ENSP00000328236:R722Q	ENSP00000328236:R722Q	R	+	2	0	KNTC1	121623667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.320000	0.65841	2.570000	0.86706	0.655000	0.94253	CGA	KNTC1	-	NULL		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123057714	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123057714	G	A	123057714	3	1	131	1	0	0	0	0	1	0	0	0	8448	1058	37	1	2263	1	KNTC1	12	123057714	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	90472	123057714	10794181	1385	21525										
KNTC1	9735	genome.wustl.edu	37	chr12	123062327	123062327	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattacaagaagagccagatCattctaaagaggtgacattt	8	7	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123062327C>A	ENST00000333479.7	+	31	3007	c.2830C>A	c.(2830-2832)Cat>Aat	p.H944N	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	944					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGCCAGATCATTCTAAAGA	0.368																																																	0													76	71	73					12																	123062327		1834	4090	5924	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2830C>A	12.37:g.123062327C>A	ENSP00000328236:p.His944Asn		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.H944N	ENST00000333479.7	37	c.2830	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018616	0.07959	.	.	ENSG00000184445	ENST00000333479	T	0.13657	2.57	5.84	-11.7	0.00046	.	0.794772	0.12051	N	0.504117	T	0.02767	0.0083	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	10	0.16420	T	0.52	1.0E-4	10.5798	0.45248	0.3854:0.3562:0.2583:0.0	.	944	P50748	KNTC1_HUMAN	N	944	ENSP00000328236:H944N	ENSP00000328236:H944N	H	+	1	0	KNTC1	121628280	0.000000	0.05858	0.005000	0.12908	0.660000	0.38997	-1.460000	0.02368	-2.135000	0.00811	-0.262000	0.10625	CAT	KNTC1	-	superfamily_PAH		0.368	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	C			123062327	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.000	A	A	123062327	C	A	123062327	3	1	131	1	0	0	0	0	1	0	0	0	8448	826	29	3	2948	3	KNTC1	12	123062327	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4613	123062327	10789568	1386	21526										
CCDC62	84660	genome.wustl.edu	37	chr12	123265839	123265839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcttcaggaaatggctcaaAaggcaacgcattcttctctt	8	10	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123265839A>C	ENST00000253079.6	+	3	702	c.358A>C	c.(358-360)Aag>Cag	p.K120Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.K120Q|CCDC62_ENST00000392440.2_Missense_Mutation_p.K18T|CCDC62_ENST00000537566.1_Missense_Mutation_p.K18T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	120					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATGGCTCAAAAGGCAACGCA	0.413																																																	0													139	124	129					12																	123265839		2203	4300	6503	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.358A>C	12.37:g.123265839A>C	ENSP00000253079:p.Lys120Gln		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K120Q	ENST00000253079.6	37	c.358	CCDS9238.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.669569|2.669569	0.47677|0.47677	.|.	.|.	ENSG00000130783|ENSG00000130783	ENST00000253079;ENST00000392441|ENST00000537566;ENST00000392440	T;T|T;T	0.36340|0.48522	1.26;1.26|0.81;0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.149811|0.149811	0.41194|0.41194	D|D	0.000921|0.000921	T|T	0.52075|0.52075	0.1712|0.1712	M|M	0.64997|0.64997	1.995|1.995	0.22142|0.22142	N|N	0.999334|0.999334	D;D|P	0.76494|0.40731	0.999;0.992|0.728	D;P|P	0.71414|0.44359	0.973;0.906|0.447	T|T	0.55049|0.55049	-0.8201|-0.8201	10|10	0.49607|0.87932	T|D	0.09|0	-16.786|-16.786	13.3421|13.3421	0.60551|0.60551	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	120;120|18	Q6P9F0-2;Q6P9F0|Q6P9F0-3	.;CCD62_HUMAN|.	Q|T	120|18	ENSP00000253079:K120Q;ENSP00000376236:K120Q|ENSP00000445045:K18T;ENSP00000376235:K18T	ENSP00000253079:K120Q|ENSP00000376235:K18T	K|K	+|+	1|2	0|0	CCDC62|CCDC62	121831792|121831792	0.999000|0.999000	0.42202|0.42202	0.343000|0.343000	0.25615|0.25615	0.165000|0.165000	0.22458|0.22458	4.505000|4.505000	0.60421|0.60421	2.045000|2.045000	0.60652|0.60652	0.455000|0.455000	0.32223|0.32223	AAG|AAA	CCDC62	-	NULL		0.413	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	A	NM_032573		123265839	1	no_errors	ENST00000253079	ensembl	human	known	70_37	missense	SNP	0.802	C	C	123265839	A	C	123265839	3	2	131	1	0	0	0	0	1	0	0	0	2838	15	1	5	368	5	CCDC62	12	123265839	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	203512	123265839	10586056	1387	21527										
SBNO1	55206	genome.wustl.edu	37	chr12	123829879	123829879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttcattaagactattatttTtcagtagatctttaagctga	6	5	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123829879T>G	ENST00000602398.1	-	4	603	c.476A>C	c.(475-477)aAa>aCa	p.K159T	SBNO1_ENST00000267176.4_Missense_Mutation_p.K158T|SBNO1_ENST00000420886.2_Missense_Mutation_p.K159T|SBNO1_ENST00000602750.1_Missense_Mutation_p.K158T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	159					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTATTATTTTTCAGTAGATC	0.418																																																	0													159	144	149					12																	123829879		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.476A>C	12.37:g.123829879T>G	ENSP00000473665:p.Lys159Thr		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.K159T	ENST00000602398.1	37	c.476	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400812	0.62177	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.35789	1.35;1.29	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72982	0.932;0.969;0.979	T	0.20840	-1.0263	10	0.13470	T	0.59	-27.2908	14.621	0.68584	0.0:0.0:0.0:1.0	.	159;158;157	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	T	159;158;158	ENSP00000387361:K159T;ENSP00000267176:K158T	ENSP00000267176:K158T	K	-	2	0	SBNO1	122395832	1.000000	0.71417	0.992000	0.48379	0.886000	0.51366	7.542000	0.82095	2.193000	0.70182	0.533000	0.62120	AAA	SBNO1	-	NULL		0.418	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	T	NM_018183		123829879	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123829879	T	G	123829879	3	3	131	1	0	0	0	0	1	0	0	0	13892	1841	64	5	3821	5	SBNO1	12	123829879	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	564040	123829879	10022016	1388	21528										
GTF2H3	2967	genome.wustl.edu	37	chr12	124132555	124132555	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcagacttggagacttcttCggagaccctggcaaccctcc	11	14	1	3	rs147980357	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:124132555C>T	ENST00000543341.2	+	4	277	c.246C>T	c.(244-246)ttC>ttT	p.F82F	GTF2H3_ENST00000228955.7_Silent_p.F41F	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	82					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GAGACTTCTTCGGAGACCCTG	0.458								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0								C		1,4405	2.1+/-5.4	0,1,2202	94	98	96		246	-8.6	0.5	12	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	GTF2H3	NM_001516.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		82/309	124132555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2967			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.246C>T	12.37:g.124132555C>T			B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP	pfam_TF_Tfb4,tigrfam_TF_Tfb4	p.F82	ENST00000543341.2	37	c.246	CCDS9252.1	12																																																																																			GTF2H3	-	pfam_TF_Tfb4,tigrfam_TF_Tfb4		0.458	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	C	NM_001516		124132555	1	no_errors	ENST00000543341	ensembl	human	known	70_37	silent	SNP	0.890	T	T	124132555	C	T	124132555	2	4	131	1	0	0	0	0	0	0	0	1	6884	883	31	1		1	GTF2H3	12	124132555	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	302676	124132555	9719340	1389	21529										
DNAH10	196385	genome.wustl.edu	37	chr12	124382351	124382351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcccggcagaaaatatagaAaatgtggtgaagcatgttgt	11	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:124382351A>G	ENST00000409039.3	+	54	8986	c.8961A>G	c.(8959-8961)gaA>gaG	p.E2987E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2987	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAATATAGAAAATGTGGTGA	0.413																																																	0													73	72	73					12																	124382351		1837	4095	5932	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8961A>G	12.37:g.124382351A>G			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.E2987	ENST00000409039.3	37	c.8961	CCDS9255.2	12																																																																																			DNAH10	-	NULL		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	A			124382351	1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.000	G	G	124382351	A	G	124382351	2	3	131	1	0	0	0	0	0	0	0	1	4608	11	1	5		5	DNAH10	12	124382351	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	249796	124382351	9469544	1390	21530										
NCOR2	9612	genome.wustl.edu	37	chr12	124812015	124812015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggttatgggcatagcagcggGcaggctggcactggcattca	16	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:124812015G>A	ENST00000405201.1	-	45	7123	c.7123C>T	c.(7123-7125)Ccc>Tcc	p.P2375S	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.P2365S|NCOR2_ENST00000356219.3_Missense_Mutation_p.P2382S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1936S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2386					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATAGCAGCGGGCAGGCTGGCA	0.612																																																	0													63	70	67					12																	124812015		2115	4226	6341	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7123C>T	12.37:g.124812015G>A	ENSP00000384018:p.Pro2375Ser		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P2382S	ENST00000405201.1	37	c.7144	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815342	0.50527	.	.	ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T	0.16597	2.33;2.33;2.33;2.59	5.18	5.18	0.71444	.	0.322570	0.24544	N	0.037604	T	0.20210	0.0486	N	0.20530	0.585	0.33267	D	0.560447	P	0.45396	0.857	P	0.49665	0.618	T	0.08827	-1.0703	10	0.35671	T	0.21	-26.1552	18.6673	0.91495	0.0:0.0:1.0:0.0	.	2375	C9JFD3	.	S	2375;2382;2374;1936;467;2365	ENSP00000384018:P2375S;ENSP00000348551:P2382S;ENSP00000385618:P1936S;ENSP00000400281:P2365S	ENSP00000348551:P2382S	P	-	1	0	NCOR2	123377968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.612000	0.46343	2.394000	0.81467	0.491000	0.48974	CCC	NCOR2	-	NULL		0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124812015	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124812015	G	A	124812015	3	1	131	1	0	0	0	0	1	0	0	0	10260	1203	42	4	433	4	NCOR2	12	124812015	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	429664	124812015	9039880	1391	21531										
GLT1D1	144423	genome.wustl.edu	37	chr12	129373190	129373190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatcgttttgcaggccaccGaatcccttttggagtcatct	8	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:129373190G>A	ENST00000442111.2	+	3	312	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R75Q|GLT1D1_ENST00000537468.1_Missense_Mutation_p.R64Q			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	75					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCAGGCCACCGAATCCCTTTT	0.463																																																	0													104	92	96					12																	129373190		2203	4300	6503	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.224G>A	12.37:g.129373190G>A	ENSP00000394692:p.Arg75Gln		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.R75Q	ENST00000442111.2	37	c.224		12	.	.	.	.	.	.	.	.	.	.	G	6.844	0.524938	0.13066	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.80123	-1.34;0.91;-1.34	5.4	0.373	0.16178	.	0.898097	0.09762	N	0.759084	T	0.70185	0.3195	L	0.43152	1.355	0.09310	N	0.999996	B;B	0.20887	0.049;0.001	B;B	0.12156	0.007;0.003	T	0.50524	-0.8818	10	0.13470	T	0.59	0.317	10.0805	0.42386	0.3368:0.0:0.6632:0.0	.	64;75	F5H088;Q96MS3-2	.;.	Q	75;75;64	ENSP00000394692:R75Q;ENSP00000281703:R75Q;ENSP00000438158:R64Q	ENSP00000281703:R75Q	R	+	2	0	GLT1D1	127939143	0.061000	0.20836	0.000000	0.03702	0.049000	0.14656	1.104000	0.31074	0.022000	0.15160	-0.127000	0.14921	CGA	GLT1D1	-	NULL		0.463	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	G	NM_144669		129373190	1	no_errors	ENST00000442111	ensembl	human	known	70_37	missense	SNP	0.000	A	A	129373190	G	A	129373190	3	1	131	1	0	0	0	0	1	0	0	0	6484	1058	37	1	234	1	GLT1D1	12	129373190	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4561175	129373190	4478705	1392	21532										
TMEM132D	121256	genome.wustl.edu	37	chr12	129558758	129558758	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcccctgtcaatggcagtgaTttgctcatcttgcgaggagg	13	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:129558758T>G	ENST00000422113.2	-	9	3288	c.2962A>C	c.(2962-2964)Atc>Ctc	p.I988L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I526L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	988					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGCAGTGATTTGCTCATCT	0.483																																																	0													115	103	107					12																	129558758		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2962A>C	12.37:g.129558758T>G	ENSP00000408581:p.Ile988Leu		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.I988L	ENST00000422113.2	37	c.2962	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735834	0.30774	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.08984	3.03;3.85	4.14	0.389	0.16269	.	0.276251	0.29638	N	0.011583	T	0.05318	0.0141	L	0.31420	0.93	0.09310	N	1	B;B	0.28850	0.225;0.035	B;B	0.26517	0.07;0.027	T	0.40478	-0.9561	9	.	.	.	-16.7144	7.9323	0.29909	0.0:0.25:0.0:0.75	.	988;526	Q14C87;Q14C87-2	T132D_HUMAN;.	L	526;988	ENSP00000374092:I526L;ENSP00000408581:I988L	.	I	-	1	0	TMEM132D	128124711	0.958000	0.32768	0.031000	0.17742	0.777000	0.43975	1.644000	0.37228	-0.122000	0.11766	0.338000	0.21704	ATC	TMEM132D	-	NULL		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	T	NM_133448		129558758	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	0.227	G	G	129558758	T	G	129558758	3	3	131	1	0	0	0	0	1	0	0	0	16077	1493	52	5	341	5	TMEM132D	12	129558758	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	185568	129558758	4293137	1393	21533										
EP400	57634	genome.wustl.edu	37	chr12	132466942	132466942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caactccccatccctccctcGcagcctgcacagctggccct	6	22	0	0	rs375973870		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:132466942G>A	ENST00000333577.4	+	6	2065	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S	EP400_ENST00000332482.4_Silent_p.S579S|EP400_ENST00000389562.2_Silent_p.S615S|EP400_ENST00000330386.6_Silent_p.S616S|EP400_ENST00000389561.2_Silent_p.S616S			Q96L91	EP400_HUMAN	E1A binding protein p400	652					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCTCCCTCGCAGCCTGCAC	0.607																																																	0													91	81	84					12																	132466942		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1956G>A	12.37:g.132466942G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S652	ENST00000333577.4	37	c.1956		12																																																																																			EP400	-	NULL		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132466942	1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.003	A	A	132466942	G	A	132466942	2	1	131	1	0	0	0	0	0	0	0	1	5161	1074	38	2		2	EP400	12	132466942	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2908184	132466942	1384953	1394	21534										
POLE	5426	genome.wustl.edu	37	chr12	133215718	133215718	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggagcactcactgcaggaAgagcttcttcatcatgttgt	11	9	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:133215718A>C	ENST00000320574.5	-	40	5588	c.5545T>G	c.(5545-5547)Ttc>Gtc	p.F1849V	POLE_ENST00000535270.1_Missense_Mutation_p.F1822V|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1849					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACTGCAGGAAGAGCTTCTTC	0.607								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													221	162	182					12																	133215718		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5545T>G	12.37:g.133215718A>C	ENSP00000322570:p.Phe1849Val	1601	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.F1860V	ENST00000320574.5	37	c.5578	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	A	32	5.172588	0.94807	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.25579	1.79;1.79;1.79	5.62	5.62	0.85841	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.78314	0.838;0.991	T	0.58047	-0.7705	10	0.72032	D	0.01	.	15.8271	0.78718	1.0:0.0:0.0:0.0	.	1849;59	Q07864;B3KS74	DPOE1_HUMAN;.	V	59;1849;1860;1822	ENSP00000322570:F1849V;ENSP00000406383:F1860V;ENSP00000445753:F1822V	ENSP00000322570:F1849V	F	-	1	0	POLE	131725791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.239000	0.95389	2.149000	0.67028	0.533000	0.62120	TTC	POLE	-	pfam_DNA_pol_e_suA_C		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	A	NM_006231		133215718	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133215718	A	C	133215718	3	2	131	1	0	0	0	0	1	0	0	0	12220	72	3	5	1355	5	POLE	12	133215718	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	748776	133215718	636177	1395	21535										
POLE	5426	genome.wustl.edu	37	chr12	133253151	133253151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggccatcgatcatgtagGaaatcatcataatctggtct	8	10	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:133253151G>A	ENST00000320574.5	-	9	933	c.890C>T	c.(889-891)tCc>tTc	p.S297F	POLE_ENST00000535270.1_Missense_Mutation_p.S270F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	297					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GATCATGTAGGAAATCATCAT	0.527								DNA polymerases (catalytic subunits)																																									0													104	90	95					12																	133253151		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.890C>T	12.37:g.133253151G>A	ENSP00000322570:p.Ser297Phe		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.S308F	ENST00000320574.5	37	c.923	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025347	0.93518	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.68	5.68	0.88126	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	.	19.7802	0.96413	0.0:0.0:1.0:0.0	.	270;297	F5H1D6;Q07864	.;DPOE1_HUMAN	F	297;308;270;77;232	ENSP00000322570:S297F;ENSP00000406383:S308F;ENSP00000445753:S270F;ENSP00000442519:S77F	ENSP00000322570:S297F	S	-	2	0	POLE	131763224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.762000	0.98944	2.669000	0.90835	0.561000	0.74099	TCC	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	G	NM_006231		133253151	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133253151	G	A	133253151	3	1	131	1	0	0	0	0	1	0	0	0	12220	1174	41	1	6134	1	POLE	12	133253151	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	37433	133253151	598744	1396	21536										
GOLGA3	2802	genome.wustl.edu	37	chr12	133372579	133372579	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcaaagccgcctccaagatGatcttctcgttctgcaggag	10	12	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:133372579G>T	ENST00000450791.2	-	10	2511	c.2328C>A	c.(2326-2328)atC>atA	p.I776I	GOLGA3_ENST00000537452.1_Silent_p.I776I|GOLGA3_ENST00000204726.3_Silent_p.I776I|GOLGA3_ENST00000545875.1_Silent_p.I776I|GOLGA3_ENST00000456883.2_Silent_p.I776I			Q08378	GOGA3_HUMAN	golgin A3	776					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCCAAGATGATCTTCTCGT	0.602																																																	0													58	58	58					12																	133372579		2203	4300	6503	SO:0001819	synonymous_variant	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2328C>A	12.37:g.133372579G>T			A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.I776	ENST00000450791.2	37	c.2328	CCDS9281.1	12																																																																																			GOLGA3	-	NULL		0.602	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	G	NM_005895		133372579	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	silent	SNP	0.176	T	T	133372579	G	T	133372579	2	4	131	1	0	0	0	0	0	0	0	1	6573	1280	45	3		3	GOLGA3	12	133372579	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	119428	133372579	479316	1397	21537										
ZDHHC20	253832	genome.wustl.edu	37	chr13	21987845	21987845	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttgctgctcttctcaaaaTttcttgttgtctttcttggc	6	10	6	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:21987845T>G	ENST00000400590.3	-	4	514	c.316A>C	c.(316-318)Att>Ctt	p.I106L	ZDHHC20_ENST00000382466.3_Missense_Mutation_p.I106L|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.I106L|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.I106L|ZDHHC20_ENST00000422251.1_Missense_Mutation_p.I106L|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.I43L			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	106					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CTTCTCAAAATTTCTTGTTGT	0.289																																																	0													127	108	114					13																	21987845		1800	4070	5870	SO:0001583	missense	253832			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"Zinc fingers, DHHC-type"	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.316A>C	13.37:g.21987845T>G	ENSP00000383433:p.Ile106Leu		A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I106L	ENST00000400590.3	37	c.316		13	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135961	0.77662	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724;ENST00000422251	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.52126	1.63	0.58432	D	0.999998	B;B	0.31318	0.319;0.318	P;B	0.46339	0.513;0.396	T	0.21280	-1.0250	10	0.48119	T	0.1	-3.5221	14.3268	0.66526	0.0:0.0:0.0:1.0	.	43;106	B4DRN8;Q5W0Z9-3	.;.	L	106;106;106;43;106;106	ENSP00000383433:I106L;ENSP00000313583:I106L;ENSP00000371905:I106L;ENSP00000443236:I43L;ENSP00000401232:I106L	ENSP00000313583:I106L	I	-	1	0	ZDHHC20	20885845	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	5.825000	0.69286	2.136000	0.66102	0.402000	0.26972	ATT	ZDHHC20	-	NULL		0.289	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	T	NM_153251		21987845	-1	no_errors	ENST00000400590	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21987845	T	G	21987845	3	3	131	1	0	0	0	0	1	0	0	0	17641	1493	52	5	784	5	ZDHHC20	13	21987845	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09		21987845	93182033	1398	21538										
ATP12A	479	genome.wustl.edu	37	chr13	25283926	25283926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgggtagaatgggagaaggActacgtgaatgacttgaaag	16	4	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:25283926A>G	ENST00000381946.3	+	19	2890	c.2723A>G	c.(2722-2724)gAc>gGc	p.D908G	ATP12A_ENST00000218548.6_Missense_Mutation_p.D914G			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	908					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGGAGAAGGACTACGTGAAT	0.542																																					Pancreas(156;1582 1935 18898 22665 26498)												0													125	122	123					13																	25283926		2203	4300	6503	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2723A>G	13.37:g.25283926A>G	ENSP00000371372:p.Asp908Gly		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.D914G	ENST00000381946.3	37	c.2741	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542465	0.13250	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88664	-2.41;-2.41	5.79	2.01	0.26516	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.700209	0.14212	N	0.333967	T	0.81221	0.4777	L	0.39020	1.185	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.69884	-0.5024	10	0.66056	D	0.02	.	4.6956	0.12802	0.5936:0.1526:0.2539:0.0	.	914;908	P54707-2;P54707	.;AT12A_HUMAN	G	914;908	ENSP00000218548:D914G;ENSP00000371372:D908G	ENSP00000218548:D914G	D	+	2	0	ATP12A	24181926	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.509000	0.22707	0.120000	0.18254	0.533000	0.62120	GAC	ATP12A	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.542	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	A	NM_001676		25283926	1	no_errors	ENST00000218548	ensembl	human	known	70_37	missense	SNP	0.000	G	G	25283926	A	G	25283926	3	3	131	1	0	0	0	0	1	0	0	0	1123	275	10	5	2815	5	ATP12A	13	25283926	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3296081	25283926	89885952	1399	21539										
RNF6	6049	genome.wustl.edu	37	chr13	26789310	26789310	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctgctcccccaattccatTtcttaaccttcccaatgttg	4	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:26789310T>G	ENST00000381588.4	-	5	1461	c.709A>C	c.(709-711)Aat>Cat	p.N237H	RNF6_ENST00000346166.3_Missense_Mutation_p.N237H|RNF6_ENST00000381570.3_Missense_Mutation_p.N237H|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	237					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCAATTCCATTTCTTAACCTT	0.458																																																	0													91	89	89					13																	26789310		2203	4300	6503	SO:0001583	missense	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.709A>C	13.37:g.26789310T>G	ENSP00000371000:p.Asn237His		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N237H	ENST00000381588.4	37	c.709	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531394	0.45073	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.07444	3.19;3.19;3.19	4.92	4.92	0.64577	.	0.387462	0.27354	N	0.019750	T	0.12561	0.0305	L	0.50333	1.59	0.80722	D	1	B	0.33448	0.412	B	0.37833	0.259	T	0.02797	-1.1109	10	0.72032	D	0.01	-9.3462	14.7367	0.69422	0.0:0.0:0.0:1.0	.	237	Q9Y252	RNF6_HUMAN	H	237	ENSP00000342121:N237H;ENSP00000371000:N237H;ENSP00000370982:N237H	ENSP00000342121:N237H	N	-	1	0	RNF6	25687310	0.994000	0.37717	0.987000	0.45799	0.600000	0.36913	3.450000	0.52957	2.076000	0.62316	0.455000	0.32223	AAT	RNF6	-	NULL		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	T	NM_005977		26789310	-1	no_errors	ENST00000346166	ensembl	human	known	70_37	missense	SNP	0.999	G	G	26789310	T	G	26789310	3	3	131	1	0	0	0	0	1	0	0	0	13528	1841	64	5	1352	5	RNF6	13	26789310	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1505384	26789310	88380568	1400	21540										
USP12	219333	genome.wustl.edu	37	chr13	27649460	27649460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttttgtatatcgatgaagtTgatccatatatttaaatctc	6	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:27649460T>A	ENST00000282344.6	-	7	1056	c.800A>T	c.(799-801)cAa>cTa	p.Q267L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	267	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCGATGAAGTTGATCCATATA	0.328																																					Ovarian(37;808 911 7590 44442 44991)												0													58	56	57					13																	27649460		2203	4300	6503	SO:0001583	missense	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.800A>T	13.37:g.27649460T>A	ENSP00000282344:p.Gln267Leu		A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q267L	ENST00000282344.6	37	c.800	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983408	0.53827	.	.	ENSG00000152484	ENST00000282344	T	0.33438	1.41	5.57	5.57	0.84162	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.78049	2.395	0.80722	D	1	P	0.45768	0.866	P	0.46208	0.507	T	0.51379	-0.8713	10	0.72032	D	0.01	-20.9123	16.0278	0.80555	0.0:0.0:0.0:1.0	.	267	O75317	UBP12_HUMAN	L	267	ENSP00000282344:Q267L	ENSP00000282344:Q267L	Q	-	2	0	USP12	26547460	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.867000	0.87062	2.247000	0.74100	0.477000	0.44152	CAA	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.328	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	T	NM_182488		27649460	-1	no_errors	ENST00000282344	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27649460	T	A	27649460	3	1	131	1	0	0	0	0	1	0	0	0	17074	1812	63	5	324	5	USP12	13	27649460	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	860150	27649460	87520418	1401	21541										
PAN3	255967	genome.wustl.edu	37	chr13	28854578	28854578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactgaccaaaacaggatgcGaagtgtaaatgacatcatgc	10	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:28854578G>A	ENST00000380958.3	+	16	2371	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	PAN3_ENST00000282391.5_Missense_Mutation_p.R428Q|PAN3_ENST00000399613.1_Missense_Mutation_p.R540Q	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AACAGGATGCGAAGTGTAAAT	0.373																																																	0													142	124	130					13																	28854578		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2219G>A	13.37:g.28854578G>A	ENSP00000370345:p.Arg740Gln			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.R740Q	ENST00000380958.3	37	c.2219	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	36	5.847488	0.97023	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.36520	1.25;1.25;1.25	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.61036	1.89	0.80722	D	1	D;P;D	0.67145	0.996;0.953;0.995	P;B;P	0.53593	0.73;0.272;0.585	T	0.51880	-0.8649	10	0.62326	D	0.03	-9.6192	20.2825	0.98528	0.0:0.0:1.0:0.0	.	740;428;686	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	Q	740;540;428	ENSP00000370345:R740Q;ENSP00000382522:R540Q;ENSP00000282391:R428Q	ENSP00000282391:R428Q	R	+	2	0	PAN3	27752578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	CGA	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom		0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	G	NM_175854		28854578	1	no_errors	ENST00000380958	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28854578	G	A	28854578	3	1	131	1	0	0	0	0	1	0	0	0	11439	1058	37	1	2281	1	PAN3	13	28854578	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1205118	28854578	86315300	1402	21542										
SLC46A3	283537	genome.wustl.edu	37	chr13	29287142	29287142	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcattcttaaaaagcatgtaAgttcggtaaaataggttttt	8	4	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:29287142A>C	ENST00000266943.6	-	3	1104	c.735T>G	c.(733-735)acT>acG	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333																																																	0													42	42	42					13																	29287142		2203	4298	6501	SO:0001819	synonymous_variant	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.735T>G	13.37:g.29287142A>C			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T245	ENST00000266943.6	37	c.735	CCDS9332.1	13																																																																																			SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.333	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	A	NM_181785		29287142	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	silent	SNP	0.997	C	C	29287142	A	C	29287142	2	2	131	1	0	0	0	0	0	0	0	1	14676	59	3	5		5	SLC46A3	13	29287142	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	432564	29287142	85882736	1403	21543										
SLC46A3	283537	genome.wustl.edu	37	chr13	29292084	29292084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtcagtggaccggtcaaagTcatagcaaatgcactaagga	11	8	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:29292084T>C	ENST00000266943.6	-	2	421	c.52A>G	c.(52-54)Act>Gct	p.T18A	SLC46A3_ENST00000380814.4_Missense_Mutation_p.T18A	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	18					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCGGTCAAAGTCATAGCAAAT	0.378																																																	0													122	122	122					13																	29292084		2203	4300	6503	SO:0001583	missense	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.52A>G	13.37:g.29292084T>C	ENSP00000266943:p.Thr18Ala		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T18A	ENST00000266943.6	37	c.52	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	T	3.099	-0.185273	0.06340	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.56275	0.47;0.47	5.55	-2.3	0.06785	.	0.425083	0.27831	N	0.017663	T	0.28995	0.0720	L	0.31294	0.92	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.004;0.007	T	0.12941	-1.0528	10	0.14252	T	0.57	-8.1147	4.9107	0.13820	0.4525:0.1714:0.0:0.3761	.	18;18	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	A	18	ENSP00000266943:T18A;ENSP00000370192:T18A	ENSP00000266943:T18A	T	-	1	0	SLC46A3	28190084	0.001000	0.12720	0.005000	0.12908	0.074000	0.17049	0.726000	0.25984	0.041000	0.15688	-0.366000	0.07423	ACT	SLC46A3	-	pfam_MFS		0.378	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	T	NM_181785		29292084	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	missense	SNP	0.000	C	C	29292084	T	C	29292084	3	2	131	1	0	0	0	0	1	0	0	0	14676	1667	58	5	1367	5	SLC46A3	13	29292084	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4942	29292084	85877794	1404	21544										
SLC7A1	6541	genome.wustl.edu	37	chr13	30110018	30110018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccagagctctccaacggtgAcatagctgtagaggtaagct	11	11	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:30110018A>G	ENST00000380752.5	-	3	694	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	103					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCAACGGTGACATAGCTGTA	0.602																																																	0													65	60	62					13																	30110018		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.308T>C	13.37:g.30110018A>G	ENSP00000370128:p.Val103Ala		Q5JR50	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.V103A	ENST00000380752.5	37	c.308	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559178	0.86335	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.88664	-2.41;-2.41	4.81	4.81	0.61882	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	L	0.52266	1.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93025	0.6443	10	0.87932	D	0	.	13.6926	0.62556	1.0:0.0:0.0:0.0	.	103	P30825	CTR1_HUMAN	A	103	ENSP00000370128:V103A;ENSP00000390092:V103A	ENSP00000370128:V103A	V	-	2	0	SLC7A1	29008018	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	8.966000	0.93397	2.015000	0.59207	0.533000	0.62120	GTC	SLC7A1	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.602	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	A	NM_003045		30110018	-1	no_errors	ENST00000380752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30110018	A	G	30110018	3	3	131	1	0	0	0	0	1	0	0	0	14722	275	10	5	1625	5	SLC7A1	13	30110018	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	817934	30110018	85059860	1405	21545										
B3GALTL	145173	genome.wustl.edu	37	chr13	31850910	31850910	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaatttcatggtgacagaagTatgttttgggttattcattt	9	3	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:31850910T>C	ENST00000343307.4	+	10	999		c.e10+2		B3GALTL_ENST00000461652.2_Splice_Site	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like						fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTGACAGAAGTATGTTTTGGG	0.303																																																	0													134	145	141					13																	31850910		2203	4300	6503	SO:0001630	splice_region_variant	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.850+2T>C	13.37:g.31850910T>C			A8K5F8|Q5W0H2|Q6NUI3	Splice_Site	SNP	-	e10+2	ENST00000343307.4	37	c.850+2	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063167	0.76187	.	.	ENSG00000187676	ENST00000343307	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3615	0.74478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	B3GALTL	30748910	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.033000	0.70925	2.268000	0.75426	0.455000	0.32223	.	B3GALTL	-	-		0.303	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	T	NM_194318	Intron	31850910	1	no_errors	ENST00000343307	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	31850910	T	C	31850910	5	2	131	1	0	0	0	0	0	0	1	0	1253	1652	57	5	890	5	B3GALTL	13	31850910	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1740892	31850910	83318968	1406	21546										
BRCA2	675	genome.wustl.edu	37	chr13	32912309	32912309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgattctgttgtttcaatgTttaagatagaaaatcataat	6	3	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:32912309T>C	ENST00000380152.3	+	11	4050	c.3817T>C	c.(3817-3819)Ttt>Ctt	p.F1273L	BRCA2_ENST00000544455.1_Missense_Mutation_p.F1273L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1273					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTTCAATGTTTAAGATAGA	0.274			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													24	25	24					13																	32912309		2201	4290	6491	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3817T>C	13.37:g.32912309T>C	ENSP00000369497:p.Phe1273Leu		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.F1273L	ENST00000380152.3	37	c.3817	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	T	7.472	0.646946	0.14516	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01165	5.24;5.24	5.51	1.61	0.23674	.	0.570428	0.18100	N	0.151740	T	0.01558	0.0050	M	0.68952	2.095	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.46665	-0.9175	10	0.21014	T	0.42	.	6.278	0.20991	0.2479:0.0675:0.0:0.6845	.	1273	P51587	BRCA2_HUMAN	L	1273	ENSP00000369497:F1273L;ENSP00000439902:F1273L	ENSP00000369497:F1273L	F	+	1	0	BRCA2	31810309	0.001000	0.12720	0.001000	0.08648	0.157000	0.22087	0.467000	0.22035	0.043000	0.15746	0.528000	0.53228	TTT	BRCA2	-	pirsf_BRCA2		0.274	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	T	NM_000059		32912309	1	no_errors	ENST00000380152	ensembl	human	known	70_37	missense	SNP	0.022	C	C	32912309	T	C	32912309	3	2	131	1	0	0	0	0	1	0	0	0	1502	1725	60	5	3855	5	BRCA2	13	32912309	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1061399	32912309	82257569	1407	21547										
KL	9365	genome.wustl.edu	37	chr13	33628404	33628404	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcaaaaagttcatcatggaAaccttaaaaggtatgattgt	7	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:33628404A>C	ENST00000380099.3	+	2	1328	c.1320A>C	c.(1318-1320)gaA>gaC	p.E440D	KL_ENST00000426690.2_Missense_Mutation_p.E133D|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	440	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCATCATGGAAACCTTAAAAG	0.328																																																	0													75	80	78					13																	33628404		2160	4293	6453	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1320A>C	13.37:g.33628404A>C	ENSP00000369442:p.Glu440Asp		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E440D	ENST00000380099.3	37	c.1320	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239995	0.39598	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.34072	1.38;1.47	5.76	3.35	0.38373	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.69823	2.125	0.58432	D	0.999991	B;B	0.24483	0.104;0.046	B;B	0.35688	0.208;0.04	T	0.19582	-1.0301	10	0.45353	T	0.12	-28.6297	6.5216	0.22279	0.7312:0.1313:0.1375:0.0	.	440;133	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	D	133;440	ENSP00000399513:E133D;ENSP00000369442:E440D	ENSP00000369442:E440D	E	+	3	2	KL	32526404	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.678000	0.25277	0.465000	0.27167	0.533000	0.62120	GAA	KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.328	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	A			33628404	1	no_errors	ENST00000380099	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33628404	A	C	33628404	3	2	131	1	0	0	0	0	1	0	0	0	8351	11	1	5	1326	5	KL	13	33628404	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	716095	33628404	81541474	1408	21548										
SOHLH2	54937	genome.wustl.edu	37	chr13	36776105	36776105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatatgcaatcatccaaaagCgctgctgcctccttcgtgtc	7	13	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:36776105C>T	ENST00000379881.3	-	2	262	c.174G>A	c.(172-174)gcG>gcA	p.A58A	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A135A|SOHLH2_ENST00000554962.1_Silent_p.A135A|SOHLH2_ENST00000317764.6_Silent_p.A58A	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	58					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATCCAAAAGCGCTGCTGCCT	0.453																																																	0													151	118	129					13																	36776105		2203	4300	6503	SO:0001819	synonymous_variant	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.174G>A	13.37:g.36776105C>T			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A135	ENST00000379881.3	37	c.405	CCDS9355.1	13																																																																																			SOHLH2	-	NULL		0.453	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	C	NM_017826		36776105	-1	no_errors	ENST00000554962	ensembl	human	known	70_37	silent	SNP	0.000	T	T	36776105	C	T	36776105	2	4	131	1	0	0	0	0	0	0	0	1	14954	755	27	2		2	SOHLH2	13	36776105	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3147701	36776105	78393773	1409	21549										
CCNA1	8900	genome.wustl.edu	37	chr13	37007341	37007341	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taactgcaaatgggcagtacAggaggacctgtggccaggta	14	8	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:37007341A>T	ENST00000255465.4	+	2	544	c.280A>T	c.(280-282)Agg>Tgg	p.R94W	CCNA1_ENST00000440264.1_Missense_Mutation_p.R50W|CCNA1_ENST00000449823.1_Missense_Mutation_p.R50W|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.R93W			P78396	CCNA1_HUMAN	cyclin A1	94					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGGGCAGTACAGGAGGACCTG	0.572																																																	0													52	52	52					13																	37007341		2203	4300	6503	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.280A>T	13.37:g.37007341A>T	ENSP00000255465:p.Arg94Trp		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R94W	ENST00000255465.4	37	c.280	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	A	17.15	3.314875	0.60524	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.19105	2.25;2.25;2.17;2.18	4.15	-2.22	0.06952	.	0.244954	0.40302	N	0.001130	T	0.33440	0.0863	M	0.62723	1.935	0.35461	D	0.796481	D;D	0.64830	0.994;0.99	D;P	0.64410	0.925;0.781	T	0.31364	-0.9946	10	0.72032	D	0.01	.	8.6383	0.33962	0.3848:0.5345:0.0807:0.0	.	93;94	P78396-2;P78396	.;CCNA1_HUMAN	W	50;50;93;94	ENSP00000400666:R50W;ENSP00000409873:R50W;ENSP00000396479:R93W;ENSP00000255465:R94W	ENSP00000255465:R94W	R	+	1	2	CCNA1	35905341	0.997000	0.39634	0.986000	0.45419	0.666000	0.39218	0.483000	0.22292	-0.584000	0.05913	0.374000	0.22700	AGG	CCNA1	-	pirsf_Cyclin_A/B/D/E		0.572	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	A	NM_003914		37007341	1	no_errors	ENST00000255465	ensembl	human	known	70_37	missense	SNP	0.979	T	T	37007341	A	T	37007341	3	4	131	1	0	0	0	0	1	0	0	0	2914	179	7	5	286	5	CCNA1	13	37007341	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	231236	37007341	78162537	1410	21550										
POSTN	10631	genome.wustl.edu	37	chr13	38171338	38171338	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacgttttctgtccacagatGgactttttataccagttctt	6	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:38171338G>T	ENST00000379747.4	-	2	318	c.201C>A	c.(199-201)tcC>tcA	p.S67S	POSTN_ENST00000379743.4_Silent_p.S67S|POSTN_ENST00000379742.4_Silent_p.S67S|POSTN_ENST00000541179.1_Silent_p.S67S|POSTN_ENST00000541481.1_Silent_p.S67S|POSTN_ENST00000379749.4_Silent_p.S67S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	67	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTCCACAGATGGACTTTTTAT	0.398																																																	0													118	111	113					13																	38171338		2203	4300	6503	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.201C>A	13.37:g.38171338G>T			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.S67	ENST00000379747.4	37	c.201	CCDS9364.1	13																																																																																			POSTN	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain		0.398	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	G	NM_006475		38171338	-1	no_errors	ENST00000379747	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38171338	G	T	38171338	2	4	131	1	0	0	0	0	0	0	0	1	12283	1335	47	4		4	POSTN	13	38171338	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1163997	38171338	76998540	1411	21551										
FREM2	341640	genome.wustl.edu	37	chr13	39264464	39264464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacctttgtatggggaaatcTtggtcaatggcattccagca	10	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:39264464T>G	ENST00000280481.7	+	1	3199	c.2983T>G	c.(2983-2985)Ttg>Gtg	p.L995V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	995					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGGGAAATCTTGGTCAATGG	0.443																																																	0													133	137	135					13																	39264464		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2983T>G	13.37:g.39264464T>G	ENSP00000280481:p.Leu995Val		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L995V	ENST00000280481.7	37	c.2983	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616571	0.28801	.	.	ENSG00000150893	ENST00000280481	T	0.22336	1.96	5.79	1.96	0.26148	.	0.074047	0.56097	D	0.000035	T	0.21962	0.0529	L	0.60067	1.865	0.58432	D	0.999997	P	0.35507	0.506	B	0.39152	0.292	T	0.01935	-1.1244	10	0.40728	T	0.16	.	9.1067	0.36703	0.0:0.6133:0.0:0.3867	.	995	Q5SZK8	FREM2_HUMAN	V	995	ENSP00000280481:L995V	ENSP00000280481:L995V	L	+	1	2	FREM2	38162464	0.000000	0.05858	0.991000	0.47740	0.944000	0.59088	-0.719000	0.04974	0.047000	0.15862	0.528000	0.53228	TTG	FREM2	-	NULL		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	T	NM_207361		39264464	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.997	G	G	39264464	T	G	39264464	3	3	131	1	0	0	0	0	1	0	0	0	6063	1606	56	5	2985	5	FREM2	13	39264464	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1093126	39264464	75905414	1412	21552										
NHLRC3	387921	genome.wustl.edu	37	chr13	39613372	39613372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccagaatattttaccggaAcaacattttgtgttgcagtt	7	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:39613372A>C	ENST00000379600.3	+	2	506	c.184A>C	c.(184-186)Aca>Cca	p.T62P	PROSER1_ENST00000350125.3_5'Flank|PROSER1_ENST00000352251.3_5'Flank|NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Missense_Mutation_p.T62P	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	62						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTTTACCGGAACAACATTTTG	0.378																																																	0													87	89	88					13																	39613372		2203	4300	6503	SO:0001583	missense	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.184A>C	13.37:g.39613372A>C	ENSP00000368920:p.Thr62Pro		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.T62P	ENST00000379600.3	37	c.184	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	A	9.553	1.116407	0.20795	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	T;D	0.90133	0.89;-2.62	5.29	-7.74	0.01241	Six-bladed beta-propeller, TolB-like (1);	1.164300	0.05950	N	0.638690	T	0.78110	0.4232	N	0.11201	0.11	0.09310	N	1	B;B;B;B	0.26258	0.016;0.001;0.026;0.145	B;B;B;B	0.27887	0.009;0.0;0.039;0.084	T	0.65606	-0.6127	9	.	.	.	-1.8787	11.3828	0.49768	0.2149:0.1553:0.6298:0.0	.	62;62;62;62	B4DTL0;Q5JS37;B4DRC8;F5GZB5	.;NHLC3_HUMAN;.;.	P	62	ENSP00000368920:T62P;ENSP00000368919:T62P	.	T	+	1	0	NHLRC3	38511372	0.000000	0.05858	0.499000	0.27577	0.637000	0.38172	-0.268000	0.08607	-1.258000	0.02471	-0.609000	0.04063	ACA	NHLRC3	-	NULL		0.378	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	A	NM_001012754		39613372	1	no_errors	ENST00000379600	ensembl	human	known	70_37	missense	SNP	0.002	C	C	39613372	A	C	39613372	3	2	131	1	0	0	0	0	1	0	0	0	10431	43	2	5	190	5	NHLRC3	13	39613372	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	348908	39613372	75556506	1413	21553										
ELF1	1997	genome.wustl.edu	37	chr13	41508024	41508024	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atggaatggcttgtaaaataAacttctgagatccagtacct	8	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:41508024A>C	ENST00000239882.3	-	9	1711	c.1397T>G	c.(1396-1398)tTt>tGt	p.F466C	ELF1_ENST00000442101.1_Missense_Mutation_p.F442C|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	466					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTGTAAAATAAACTTCTGAGA	0.453																																																	0													169	169	169					13																	41508024		2203	4300	6503	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1397T>G	13.37:g.41508024A>C	ENSP00000239882:p.Phe466Cys		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.F466C	ENST00000239882.3	37	c.1397	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329066	0.60743	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.55413	0.52;0.52	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	L	0.36672	1.1	0.47949	D	0.999557	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.67581	-0.5634	10	0.72032	D	0.01	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	442;466	E9PDQ9;P32519	.;ELF1_HUMAN	C	442;208;466	ENSP00000405580:F442C;ENSP00000239882:F466C	ENSP00000239882:F466C	F	-	2	0	ELF1	40406024	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	7.165000	0.77544	2.053000	0.61076	0.533000	0.62120	TTT	ELF1	-	NULL		0.453	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	A	NM_172373		41508024	-1	no_errors	ENST00000239882	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41508024	A	C	41508024	3	2	131	1	0	0	0	0	1	0	0	0	5065	14	1	5	466	5	ELF1	13	41508024	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1894652	41508024	73661854	1414	21554										
NAA16	79612	genome.wustl.edu	37	chr13	41932524	41932524	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgataaacttggacagtattCtttggctttggattatatta	8	4	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:41932524C>A	ENST00000379406.3	+	11	1496	c.1172C>A	c.(1171-1173)tCt>tAt	p.S391Y	NAA16_ENST00000379367.3_Missense_Mutation_p.S391Y|NAA16_ENST00000403412.3_Missense_Mutation_p.S391Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	391					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GGACAGTATTCTTTGGCTTTG	0.368																																																	0													96	94	95					13																	41932524		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1172C>A	13.37:g.41932524C>A	ENSP00000368716:p.Ser391Tyr		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S391Y	ENST00000379406.3	37	c.1172	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	C	7.782	0.709782	0.15239	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.64085	0.89;0.89;-0.08	4.82	3.04	0.35103	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.190874	0.36815	N	0.002393	T	0.65637	0.2710	M	0.72118	2.19	0.26126	N	0.980487	B;B	0.32338	0.259;0.365	B;B	0.41619	0.285;0.361	T	0.63444	-0.6636	10	0.72032	D	0.01	-5.3384	10.8926	0.47004	0.0:0.8427:0.0:0.1573	.	391;391	Q6N069;Q6N069-4	NAA16_HUMAN;.	Y	391	ENSP00000368674:S391Y;ENSP00000368716:S391Y;ENSP00000386103:S391Y	ENSP00000368674:S391Y	S	+	2	0	NAA16	40830524	0.894000	0.30519	0.782000	0.31804	0.004000	0.04260	1.673000	0.37534	0.998000	0.38996	0.484000	0.47621	TCT	NAA16	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	C	NM_018527		41932524	1	no_errors	ENST00000379406	ensembl	human	known	70_37	missense	SNP	0.431	A	A	41932524	C	A	41932524	3	1	131	1	0	0	0	0	1	0	0	0	10142	913	32	3	1214	3	NAA16	13	41932524	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	424500	41932524	73237354	1415	21555										
KIAA0564	23078	genome.wustl.edu	37	chr13	42277492	42277492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagagtttttgcatcccacTtcttgcctgaccaattgtcc	6	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:42277492T>G	ENST00000379310.3	-	27	3240	c.3172A>C	c.(3172-3174)Agt>Cgt	p.S1058R		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1058						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGCATCCCACTTCTTGCCTGA	0.353																																																	0													113	108	110					13																	42277492		1860	4111	5971	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3172A>C	13.37:g.42277492T>G	ENSP00000368612:p.Ser1058Arg		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.S1058R	ENST00000379310.3	37	c.3172	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621646	0.28889	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10099	2.91	5.55	1.74	0.24563	.	0.216680	0.46145	D	0.000318	T	0.06050	0.0157	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40040	-0.9584	10	0.19590	T	0.45	.	6.8092	0.23794	0.0:0.134:0.128:0.738	.	1058	A3KMH1	K0564_HUMAN	R	962;1058	ENSP00000368612:S1058R	ENSP00000251030:S962R	S	-	1	0	KIAA0564	41175492	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	1.943000	0.40253	0.135000	0.18707	-0.313000	0.08912	AGT	VWA8	-	NULL		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	T	NM_015058		42277492	-1	no_errors	ENST00000379310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42277492	T	G	42277492	3	3	131	1	0	0	0	0	1	0	0	0	8205	1609	56	5	2621	5	KIAA0564	13	42277492	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	344968	42277492	72892386	1416	21556										
TNFSF11	8600	genome.wustl.edu	37	chr13	43181040	43181040	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actttggggcttttaaagttCgagatatagattgagcccca	10	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:43181040C>T	ENST00000239849.6	+	5	1091	c.940C>T	c.(940-942)Cga>Tga	p.R314*	TNFSF11_ENST00000398795.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000358545.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000405262.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000544862.1_Nonsense_Mutation_p.R241*			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	314					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TTTTAAAGTTCGAGATATAGA	0.408																																																	0													86	88	87					13																	43181040		2203	4300	6503	SO:0001587	stop_gained	8600			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.940C>T	13.37:g.43181040C>T	ENSP00000239849:p.Arg314*		O14723|Q96Q17|Q9P2Q3	Nonsense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.R314*	ENST00000239849.6	37	c.940	CCDS9384.1	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751226	0.89753	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	.	.	.	5.74	3.94	0.45596	.	0.347229	0.29707	N	0.011416	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6228	10.6953	0.45894	0.315:0.5734:0.1116:0.0	.	.	.	.	X	241;241;314;241;241	.	ENSP00000239849:R314X	R	+	1	2	TNFSF11	42079040	0.993000	0.37304	0.723000	0.30687	0.399000	0.30720	2.041000	0.41213	0.808000	0.34231	0.563000	0.77884	CGA	TNFSF11	-	superfamily_Tumour_necrosis_fac-like,pirsf_TNF_ligand_10/11		0.408	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF11	HGNC	protein_coding	OTTHUMT00000044702.2	C			43181040	1	no_errors	ENST00000239849	ensembl	human	known	70_37	nonsense	SNP	0.725	T	T	43181040	C	T	43181040	4	4	131	1	0	0	0	0	0	1	0	0	16332	876	31	1	958	1	TNFSF11	13	43181040	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	903548	43181040	71988838	1417	21557										
ENOX1	55068	genome.wustl.edu	37	chr13	43934081	43934081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgaattgctgtaatatcaccGcactgttcaaagacttcttg	7	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:43934081G>A	ENST00000261488.6	-	7	1072	c.495C>T	c.(493-495)tgC>tgT	p.C165C	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Silent_p.C165C|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	165	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TAATATCACCGCACTGTTCAA	0.408																																																	0													111	104	106					13																	43934081		2203	4300	6503	SO:0001819	synonymous_variant	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.495C>T	13.37:g.43934081G>A			A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.C165	ENST00000261488.6	37	c.495	CCDS9389.1	13																																																																																			ENOX1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.408	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	G	NM_017993		43934081	-1	no_errors	ENST00000261488	ensembl	human	known	70_37	silent	SNP	0.930	A	A	43934081	G	A	43934081	2	1	131	1	0	0	0	0	0	0	0	1	5138	1079	38	2		2	ENOX1	13	43934081	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	753041	43934081	71235797	1418	21558										
C13orf31	144811	genome.wustl.edu	37	chr13	44462906	44462906	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaccaggttggaaaggtacTttgttgggtgttgctatggc	14	5	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:44462906T>G	ENST00000441843.1	+	5	1406	c.921T>G	c.(919-921)acT>acG	p.T307T	LACC1_ENST00000325686.6_Silent_p.T307T	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	307																	GGAAAGGTACTTTGTTGGGTG	0.363																																																	0													225	202	210					13																	44462906		2203	4300	6503	SO:0001819	synonymous_variant	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.921T>G	13.37:g.44462906T>G			A2A3Z6|Q8N8X5	Silent	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.T307	ENST00000441843.1	37	c.921	CCDS9391.1	13																																																																																			LACC1	-	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat		0.363	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	T	NM_153218		44462906	1	no_errors	ENST00000325686	ensembl	human	known	70_37	silent	SNP	0.919	G	G	44462906	T	G	44462906	2	3	131	1	0	0	0	0	0	0	0	1	1730	1596	56	5		5	C13orf31	13	44462906	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	528825	44462906	70706972	1419	21559										
HTR2A	3356	genome.wustl.edu	37	chr13	47466697	47466697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtaaatccagactgcacaAagcttgctcggcagaggcca	11	11	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:47466697A>G	ENST00000378688.4	-	2	572	c.441T>C	c.(439-441)ctT>ctC	p.L147L	HTR2A_ENST00000542664.1_Silent_p.L147L|HTR2A_ENST00000543956.1_Silent_p.L63L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	147					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGACTGCACAAAGCTTGCTCG	0.577																																																	0													122	117	119					13																	47466697		2203	4300	6503	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.441T>C	13.37:g.47466697A>G			B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.L147	ENST00000378688.4	37	c.441	CCDS9405.1	13																																																																																			HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	A	NM_000621		47466697	-1	no_errors	ENST00000378688	ensembl	human	known	70_37	silent	SNP	0.985	G	G	47466697	A	G	47466697	2	3	131	1	0	0	0	0	0	0	0	1	7461	1	1	5		5	HTR2A	13	47466697	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3003791	47466697	67703181	1420	21560										
KPNA3	3839	genome.wustl.edu	37	chr13	50366632	50366632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtggttctccaagctggggTtctcggccatggctgcgcgc	16	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:50366632T>G	ENST00000261667.3	-	1	425	c.11A>C	c.(10-12)aAc>aCc	p.N4T		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	4	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CAAGCTGGGGTTCTCGGCCAT	0.716																																																	0													59	60	59					13																	50366632		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.11A>C	13.37:g.50366632T>G	ENSP00000261667:p.Asn4Thr		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N4T	ENST00000261667.3	37	c.11	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275792	0.59649	.	.	ENSG00000102753	ENST00000261667	T	0.41758	0.99	3.87	3.87	0.44632	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);	0.057359	0.64402	N	0.000003	T	0.31857	0.0810	L	0.31926	0.97	0.58432	D	0.999993	B	0.25390	0.125	B	0.27887	0.084	T	0.11641	-1.0579	10	0.39692	T	0.17	-0.0911	10.6331	0.45549	0.0:0.0:0.0:1.0	.	4	O00505	IMA3_HUMAN	T	4	ENSP00000261667:N4T	ENSP00000261667:N4T	N	-	2	0	KPNA3	49264633	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.944000	0.70219	1.396000	0.46663	0.366000	0.22137	AAC	KPNA3	-	pfam_Importin-a_IBB,pfscan_Importin-a_IBB		0.716	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	T	NM_002267		50366632	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50366632	T	G	50366632	3	3	131	1	0	0	0	0	1	0	0	0	8451	1725	60	5	1622	5	KPNA3	13	50366632	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2899935	50366632	64803246	1421	21561										
SERPINE3	647174	genome.wustl.edu	37	chr13	51936064	51936064	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgacaggattcagataatTtatcagtgtctctctagcaa	7	7	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:51936064T>G	ENST00000521255.1	+	7	1266	c.1206T>G	c.(1204-1206)atT>atG	p.I402M	RP11-24B19.4_ENST00000602881.1_RNA|SERPINE3_ENST00000400389.4_Intron|RP11-24B19.3_ENST00000602636.1_RNA|SERPINE3_ENST00000524365.1_Intron	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	402					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						TTCAGATAATTTATCAGTGTC	0.393																																																	0													127	116	119					13																	51936064		1839	4081	5920	SO:0001583	missense	647174			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.1206T>G	13.37:g.51936064T>G	ENSP00000428316:p.Ile402Met		B1V8P3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I402M	ENST00000521255.1	37	c.1206	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488849	0.44249	.	.	ENSG00000253309	ENST00000521255	D	0.85411	-1.98	4.74	-1.02	0.10135	Serpin domain (1);	0.337352	0.22340	U	0.061343	T	0.60222	0.2252	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.44574	-0.9319	9	.	.	.	.	1.1078	0.01698	0.3138:0.092:0.1627:0.4314	.	402	A8MV23	SERP3_HUMAN	M	402	ENSP00000428316:I402M	.	I	+	3	3	SERPINE3	50834065	0.000000	0.05858	0.005000	0.12908	0.898000	0.52572	-0.217000	0.09253	0.018000	0.15052	0.460000	0.39030	ATT	SERPINE3	-	smart_Serpin_dom		0.393	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2	T	NM_001101320		51936064	1	no_errors	ENST00000521255	ensembl	human	known	70_37	missense	SNP	0.000	G	G	51936064	T	G	51936064	3	3	131	1	0	0	0	0	1	0	0	0	14143	1829	64	5	1232	5	SERPINE3	13	51936064	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1569432	51936064	63233814	1422	21562										
LECT1	11061	genome.wustl.edu	37	chr13	53277901	53277901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctatacaacagattccttcGtgatccagtctagggtcgaa	8	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:53277901G>A	ENST00000377962.3	-	7	912	c.834C>T	c.(832-834)caC>caT	p.H278H	LECT1_ENST00000448904.2_Silent_p.H277H			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	278					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.H278H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGATTCCTTCGTGATCCAGTC	0.448																																																	1	Substitution - coding silent(1)	endometrium(1)											91	87	88					13																	53277901		2203	4300	6503	SO:0001819	synonymous_variant	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.834C>T	13.37:g.53277901G>A			Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.H278	ENST00000377962.3	37	c.834	CCDS9437.1	13																																																																																			LECT1	-	NULL		0.448	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	G			53277901	-1	no_errors	ENST00000377962	ensembl	human	known	70_37	silent	SNP	0.988	A	A	53277901	G	A	53277901	2	1	131	1	0	0	0	0	0	0	0	1	8732	1136	40	2		2	LECT1	13	53277901	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1341837	53277901	61891977	1423	21563										
DACH1	1602	genome.wustl.edu	37	chr13	72134009	72134009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctggacacgctgctgctgcGatgtgatgatgggtgactgc	16	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:72134009G>A	ENST00000359684.2	-	6	1539	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.R462C			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	514					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTGCTGCTGCGATGTGATGAT	0.547																																																	0													48	53	51					13																	72134009		2062	4221	6283	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1540C>T	13.37:g.72134009G>A	ENSP00000352712:p.Arg514Cys		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.R514C	ENST00000359684.2	37	c.1540		13	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347713	0.61183	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.33654	1.43;1.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.44542	1.39	0.80722	D	1	P	0.38745	0.645	B	0.23150	0.044	T	0.07986	-1.0744	10	0.45353	T	0.12	-11.9473	14.6171	0.68558	0.0:0.0:0.8543:0.1457	.	460	Q9UI36-2	.	C	462;514;514	ENSP00000304994:R462C;ENSP00000352712:R514C	ENSP00000304994:R462C	R	-	1	0	DACH1	71032010	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	6.196000	0.72094	2.673000	0.90976	0.650000	0.86243	CGC	DACH1	-	NULL		0.547	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	G	NM_004392		72134009	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	0.999	A	A	72134009	G	A	72134009	3	1	131	1	0	0	0	0	1	0	0	0	4225	1058	37	1	770	1	DACH1	13	72134009	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	18856108	72134009	43035869	1424	21564										
RNF219	79596	genome.wustl.edu	37	chr13	79190810	79190810	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccccattctctttccaaataAgtatccatacttgtatctgt	3	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:79190810A>C	ENST00000282003.6	-	6	1144	c.1086T>G	c.(1084-1086)acT>acG	p.T362T	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	362							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTTCCAAATAAGTATCCATAC	0.378																																																	0													173	160	165					13																	79190810		2203	4300	6503	SO:0001819	synonymous_variant	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1086T>G	13.37:g.79190810A>C			B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	pfscan_Znf_RING	p.T362	ENST00000282003.6	37	c.1086	CCDS31997.1	13																																																																																			RNF219	-	NULL		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	A	NM_024546		79190810	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	silent	SNP	0.973	C	C	79190810	A	C	79190810	2	2	131	1	0	0	0	0	0	0	0	1	13512	59	3	5		5	RNF219	13	79190810	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	7056801	79190810	35979068	1425	21565										
SLITRK1	114798	genome.wustl.edu	37	chr13	84455409	84455409	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accgcattataaaagttagcGaactcattagggaaaagtcg	9	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:84455409G>A	ENST00000377084.2	-	1	1119	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	78					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.F78F(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAAAGTTAGCGAACTCATTAG	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.234C>T	13.37:g.84455409G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F78	ENST00000377084.2	37	c.234	CCDS9464.1	13																																																																																			SLITRK1	-	NULL		0.478	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84455409	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A	A	84455409	G	A	84455409	2	1	131	1	0	0	0	0	0	0	0	1	14772	1049	37	1		1	SLITRK1	13	84455409	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5264599	84455409	30714469	1426	21566										
GPC5	2262	genome.wustl.edu	37	chr13	92101146	92101146	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagctctacattaaagtttCtaatatctcgaaatgcggct	6	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:92101146C>A	ENST00000377067.3	+	2	667	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	99					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTAAAGTTTCTAATATCTCG	0.438																																																	0													112	103	106					13																	92101146		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.295C>A	13.37:g.92101146C>A	ENSP00000366267:p.Leu99Ile		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.L99I	ENST00000377067.3	37	c.295	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984460	0.74474	.	.	ENSG00000179399	ENST00000377067	T	0.52295	0.67	5.5	2.85	0.33270	.	0.076656	0.52532	D	0.000065	T	0.62196	0.2408	M	0.77820	2.39	0.30670	N	0.753458	D	0.54601	0.967	P	0.62014	0.897	T	0.64381	-0.6421	10	0.72032	D	0.01	.	8.1463	0.31113	0.0:0.6771:0.0:0.3229	.	99	P78333	GPC5_HUMAN	I	99	ENSP00000366267:L99I	ENSP00000366267:L99I	L	+	1	2	GPC5	90899147	0.933000	0.31639	0.999000	0.59377	0.907000	0.53573	1.408000	0.34668	0.697000	0.31718	0.467000	0.42956	CTA	GPC5	-	pfam_Glypican		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	C	NM_004466		92101146	1	no_errors	ENST00000377067	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92101146	C	A	92101146	3	1	131	1	0	0	0	0	1	0	0	0	6620	912	32	3	301	3	GPC5	13	92101146	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7645737	92101146	23068732	1427	21567										
GPC5	2262	genome.wustl.edu	37	chr13	93518569	93518569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgaacttcagtgatgtaaaGcaaatccatcaaacagacac	6	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:93518569G>A	ENST00000377067.3	+	8	1968	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	532					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGATGTAAAGCAAATCCATC	0.433																																																	0													243	193	210					13																	93518569		2203	4300	6503	SO:0001819	synonymous_variant	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1596G>A	13.37:g.93518569G>A			B2R726|O60436|Q9BX27	Silent	SNP	pfam_Glypican	p.K532	ENST00000377067.3	37	c.1596	CCDS9468.1	13																																																																																			GPC5	-	pfam_Glypican		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	G	NM_004466		93518569	1	no_errors	ENST00000377067	ensembl	human	known	70_37	silent	SNP	1.000	A	A	93518569	G	A	93518569	2	1	131	1	0	0	0	0	0	0	0	1	6620	962	34	4		4	GPC5	13	93518569	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1417423	93518569	21651309	1428	21568										
ABCC4	10257	genome.wustl.edu	37	chr13	95899248	95899248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctcaattaacgtaaaaattCccaaaactaaataagatttc	2	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:95899248C>T	ENST00000376887.4	-	3	401	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ABCC4_ENST00000412704.1_Missense_Mutation_p.G96E|ABCC4_ENST00000536256.1_Missense_Mutation_p.G96E|ABCC4_ENST00000431522.1_Missense_Mutation_p.G96E|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	96	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CGTAAAAATTCCCAAAACTAA	0.353																																																	0													124	135	131					13																	95899248		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.287G>A	13.37:g.95899248C>T	ENSP00000366084:p.Gly96Glu		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.G96E	ENST00000376887.4	37	c.287	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945379	0.73672	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.099352	0.64402	D	0.000002	T	0.76997	0.4066	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.992;0.986;0.998;0.988	D;D;P;D;D	0.91635	0.999;0.977;0.891;0.986;0.934	D	0.84359	0.0537	10	0.87932	D	0	.	18.5638	0.91110	0.0:1.0:0.0:0.0	.	96;96;96;96;96	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	E	96	ENSP00000388657:G96E;ENSP00000366084:G96E;ENSP00000442024:G96E;ENSP00000398562:G96E	ENSP00000366084:G96E	G	-	2	0	ABCC4	94697249	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.026000	0.76455	2.660000	0.90430	0.650000	0.86243	GGA	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM		0.353	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95899248	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95899248	C	T	95899248	3	4	131	1	0	0	0	0	1	0	0	0	55	855	30	1	3855	1	ABCC4	13	95899248	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2380679	95899248	19270630	1429	21569										
UGGT2	55757	genome.wustl.edu	37	chr13	96508474	96508474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaagaacatcaaggaaaaGaattttgtaaccccaaataa	6	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:96508474G>T	ENST00000376747.3	-	34	4016	c.3946C>A	c.(3946-3948)Ctt>Att	p.L1316I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1316	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCAAGGAAAAGAATTTTGTAA	0.373																																																	0													118	123	121					13																	96508474		2203	4300	6503	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3946C>A	13.37:g.96508474G>T	ENSP00000365938:p.Leu1316Ile		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.L1316I	ENST00000376747.3	37	c.3946	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036314	0.93630	.	.	ENSG00000102595	ENST00000376747	T	0.43688	0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80728	-0.1253	10	0.87932	D	0	-17.1743	19.7613	0.96319	0.0:0.0:1.0:0.0	.	1316	Q9NYU1	UGGG2_HUMAN	I	1316	ENSP00000365938:L1316I	ENSP00000365938:L1316I	L	-	1	0	UGGT2	95306475	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.661000	0.90470	0.655000	0.94253	CTT	UGGT2	-	pfam_Glyco_trans_8		0.373	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	G	NM_020121		96508474	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96508474	G	T	96508474	3	4	131	1	0	0	0	0	1	0	0	0	16973	942	33	3	628	3	UGGT2	13	96508474	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	609226	96508474	18661404	1430	21570										
ZIC2	7546	genome.wustl.edu	37	chr13	100637349	100637349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacgcaccccagctcgctgCggaagcacatgaaggtacca	10	15	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:100637349C>T	ENST00000376335.3	+	2	1518	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	409			R -> W (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCTCGCTGCGGAAGCACAT	0.662																																					Pancreas(97;119 1522 31925 44771 48764)												0													95	83	87					13																	100637349		2203	4300	6503	SO:0001583	missense	7546			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1225C>T	13.37:g.100637349C>T	ENSP00000365514:p.Arg409Trp		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R409W	ENST00000376335.3	37	c.1225	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838761	0.71373	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.07800	3.16	3.65	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	M	0.61703	1.905	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.01093	-1.1454	10	0.87932	D	0	.	10.4803	0.44689	0.4508:0.5492:0.0:0.0	.	409	O95409	ZIC2_HUMAN	W	409;158	ENSP00000365514:R409W	ENSP00000365514:R409W	R	+	1	2	ZIC2	99435350	0.225000	0.23685	0.995000	0.50966	0.991000	0.79684	0.711000	0.25764	0.846000	0.35142	0.561000	0.74099	CGG	ZIC2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	C	NM_007129		100637349	1	no_errors	ENST00000376335	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100637349	C	T	100637349	3	4	131	1	0	0	0	0	1	0	0	0	17709	759	27	2	1231	2	ZIC2	13	100637349	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4128875	100637349	14532529	1431	21571										
ERCC5	2073	genome.wustl.edu	37	chr13	103515335	103515335	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttaatgctaaagagcatgaGaattttctggaaaccatcca	7	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:103515335G>T	ENST00000355739.4	+	8	3259	c.1836G>T	c.(1834-1836)gaG>gaT	p.E612D	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Nonsense_Mutation_p.E1038*	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	612					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGAGCATGAGAATTTTCTGG	0.433			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0													75	72	73					13																	103515335		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1836G>T	13.37:g.103515335G>T	ENSP00000347978:p.Glu612Asp		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.E612D	ENST00000355739.4	37	c.1836	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	G	7.539	0.660229	0.14645	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.05717	3.4	5.72	0.181	0.15073	.	0.616926	0.17181	N	0.183889	T	0.03564	0.0102	L	0.28740	0.885	0.09310	N	0.999999	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.11329	0.006;0.004;0.002	T	0.43814	-0.9368	10	0.18276	T	0.48	-6.4969	2.1523	0.03803	0.4208:0.1207:0.3352:0.1233	.	612;612;1037	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	D	1037;612;444	ENSP00000347978:E612D	ENSP00000347978:E612D	E	+	3	2	ERCC5	102313336	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.130000	0.03241	-0.052000	0.13311	0.591000	0.81541	GAG	ERCC5	-	tigrfam_XPGC_DNA_repair		0.433	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	G			103515335	1	no_errors	ENST00000355739	ensembl	human	known	70_37	missense	SNP	0.004	T	T	103515335	G	T	103515335	3	4	131	1	0	0	0	0	1	0	0	0	5228	933	33	3	1866	3	ERCC5	13	103515335	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2877986	103515335	11654543	1432	21572										
DAOA	267012	genome.wustl.edu	37	chr13	106142333	106142333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctatgaggcctctaaggaccGcaggcagcctctagaacgaa	11	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:106142333G>A	ENST00000375936.3	+	4	411	c.365G>A	c.(364-366)cGc>cAc	p.R122H	DAOA_ENST00000329625.5_Missense_Mutation_p.R51H|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	122					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tctaaggaccgcaggcagcct	0.463																																																	0																																										SO:0001583	missense	267012			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.365G>A	13.37:g.106142333G>A	ENSP00000365103:p.Arg122His		A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	NULL	p.R122H	ENST00000375936.3	37	c.365	CCDS41905.1	13	.	.	.	.	.	.	.	.	.	.	G	6.003	0.368882	0.11352	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.32753	1.44	2.36	-2.94	0.05581	.	.	.	.	.	T	0.14657	0.0354	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17653	-1.0362	9	0.87932	D	0	.	3.652	0.08206	0.2561:0.0:0.3911:0.3527	.	94;122	A2T115;P59103	.;DAOA_HUMAN	H	122;51	ENSP00000365103:R122H	ENSP00000329951:R51H	R	+	2	0	DAOA	104940334	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.518000	0.06267	-1.400000	0.02061	-2.606000	0.00160	CGC	DAOA	-	NULL		0.463	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	G	NM_172370		106142333	1	no_errors	ENST00000375936	ensembl	human	known	70_37	missense	SNP	0.000	A	A	106142333	G	A	106142333	3	1	131	1	0	0	0	0	1	0	0	0	4237	1087	38	2	488	2	DAOA	13	106142333	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2626998	106142333	9027545	1433	21573										
COL4A2	1284	genome.wustl.edu	37	chr13	111155804	111155804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgacagaggccccaagggaCccaagggagacccaggattc	14	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:111155804C>T	ENST00000360467.5	+	43	4420	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1372	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCCAAGGGACCCAAGGGAGA	0.607																																																	0													26	32	31					13																	111155804		1880	4106	5986	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4114C>T	13.37:g.111155804C>T	ENSP00000353654:p.Pro1372Ser		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1372S	ENST00000360467.5	37	c.4114	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554281	0.65425	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.90788	-2.73	4.95	4.95	0.65309	.	0.000000	0.52532	D	0.000063	D	0.91492	0.7314	L	0.47078	1.49	0.58432	D	0.999993	D	0.55385	0.971	P	0.59357	0.856	D	0.88039	0.2780	10	0.06757	T	0.87	.	18.21	0.89867	0.0:1.0:0.0:0.0	.	1372	P08572	CO4A2_HUMAN	S	1372	ENSP00000353654:P1372S	ENSP00000257309:P1372S	P	+	1	0	COL4A2	109953805	0.963000	0.33076	1.000000	0.80357	0.984000	0.73092	2.077000	0.41557	2.280000	0.76307	0.555000	0.69702	CCC	COL4A2	-	pfam_Collagen		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		111155804	1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111155804	C	T	111155804	3	4	131	1	0	0	0	0	1	0	0	0	3695	507	18	4	4280	4	COL4A2	13	111155804	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5013471	111155804	4014074	1434	21574										
ATP11A	23250	genome.wustl.edu	37	chr13	113536242	113536242	+	3'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgcctggtacagctcccactCtcagcaggtgacactcgcgg	11	16	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:113536242C>T	ENST00000487903.1	+	0	3618				ATP11A_ENST00000375645.3_3'UTR|ATP11A_ENST00000375630.2_Missense_Mutation_p.S1147F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCTCCCACTCTCAGCAGGTG	0.642																																																	0													106	105	105					13																	113536242		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.*125C>T	13.37:g.113536242C>T			Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1147F	ENST00000487903.1	37	c.3440	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902609	0.33628	.	.	ENSG00000068650	ENST00000375630;ENST00000419631	T;T	0.46451	0.87;1.9	4.22	4.22	0.49857	.	4.452450	0.01409	N	0.013913	T	0.37919	0.1021	N	0.19112	0.55	0.35328	D	0.785363	B	0.02656	0.0	B	0.01281	0.0	T	0.09751	-1.0660	10	0.59425	D	0.04	.	14.7883	0.69819	0.0:1.0:0.0:0.0	.	1147	E9PEJ6	.	F	1147;139	ENSP00000364781:S1147F;ENSP00000410824:S139F	ENSP00000364781:S1147F	S	+	2	0	ATP11A	112584243	0.044000	0.20184	0.002000	0.10522	0.009000	0.06853	2.278000	0.43426	1.897000	0.54924	0.491000	0.48974	TCT	ATP11A	-	NULL		0.642	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	C	NM_015205		113536242	1	no_errors	ENST00000375630	ensembl	human	known	70_37	missense	SNP	0.007	T	T	113536242	C	T	113536242	1	4	131	0	1	0	0	0	0	0	0	0	1120	913	32	1		1	ATP11A	13	113536242	3'UTR	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2380438	113536242	1633636	1435	21575										
TFDP1	7027	genome.wustl.edu	37	chr13	114290892	114290892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaacacatttgaaatccacGatgacatagaagtgctgaag	8	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:114290892G>T	ENST00000375370.5	+	10	1095	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	TFDP1_ENST00000538138.1_Missense_Mutation_p.D200Y|TFDP1_ENST00000544902.1_Missense_Mutation_p.D200Y	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	295	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TGAAATCCACGATGACATAGA	0.512										TSP Lung(29;0.18)																																							0													94	95	95					13																	114290892		2203	4300	6503	SO:0001583	missense	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.883G>T	13.37:g.114290892G>T	ENSP00000364519:p.Asp295Tyr		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.D295Y	ENST00000375370.5	37	c.883	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460616	0.84317	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.62364	0.03;0.84;0.2	4.57	4.57	0.56435	Transcription factor DP, C-terminal (1);	0.045684	0.85682	D	0.000000	D	0.83478	0.5263	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.997	D	0.88214	0.2892	10	0.87932	D	0	.	17.3363	0.87282	0.0:0.0:1.0:0.0	.	200;200;200;295	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	Y	200;295;200	ENSP00000443878:D200Y;ENSP00000364519:D295Y;ENSP00000438450:D200Y	ENSP00000364519:D295Y	D	+	1	0	TFDP1	113338893	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	8.857000	0.92250	2.074000	0.62210	0.491000	0.48974	GAT	TFDP1	-	pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr		0.512	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	G	NM_007111		114290892	1	no_errors	ENST00000375370	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114290892	G	T	114290892	3	4	131	1	0	0	0	0	1	0	0	0	15827	1058	37	3	917	3	TFDP1	13	114290892	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	754650	114290892	878986	1436	21576										
RASA3	22821	genome.wustl.edu	37	chr13	114751116	114751116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttcgtcttcttgaacttgTccctcttatactgggcgtgc	8	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:114751116T>C	ENST00000334062.7	-	23	2520	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	RASA3_ENST00000389544.4_Missense_Mutation_p.D768G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	800					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTTGAACTTGTCCCTCTTATA	0.587																																																	0													274	247	256					13																	114751116		2203	4300	6503	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2399A>G	13.37:g.114751116T>C	ENSP00000335029:p.Asp800Gly		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D800G	ENST00000334062.7	37	c.2399	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170518	0.38315	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.85955	-1.94;-2.05	4.89	4.89	0.63831	.	0.150554	0.56097	D	0.000021	D	0.83101	0.5181	L	0.57536	1.79	0.80722	D	1	P	0.34546	0.456	B	0.38616	0.277	T	0.79759	-0.1668	10	0.17369	T	0.5	.	14.5325	0.67936	0.0:0.0:0.0:1.0	.	800	Q14644	RASA3_HUMAN	G	800;768	ENSP00000335029:D800G;ENSP00000374195:D768G	ENSP00000335029:D800G	D	-	2	0	RASA3	113769218	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.065000	0.76727	1.835000	0.53391	0.402000	0.26972	GAC	RASA3	-	NULL		0.587	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	T	NM_007368		114751116	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114751116	T	C	114751116	3	2	131	1	0	0	0	0	1	0	0	0	13092	1667	58	5	113	5	RASA3	13	114751116	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	460224	114751116	418762	1437	21577										
CDC16	8881	genome.wustl.edu	37	chr13	115011474	115011474	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttctgctttttcctgaacaGaacttttctatctttctcat	3	10	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:115011474G>T	ENST00000356221.3	+	10	955		c.e10-1		CDC16_ENST00000375308.1_Splice_Site|CDC16_ENST00000252458.6_Splice_Site|CDC16_ENST00000375310.1_Splice_Site|CDC16_ENST00000252457.5_Splice_Site|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000360383.3_Splice_Site|CDC16_ENST00000375312.3_Splice_Site			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTCCTGAACAGAACTTTTCTA	0.279																																																	0													151	138	142					13																	115011474		2201	4296	6497	SO:0001630	splice_region_variant	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.848-1G>T	13.37:g.115011474G>T			A2A365|Q5T8C8|Q96AE6|Q9Y564	Splice_Site	SNP	-	e10-1	ENST00000356221.3	37	c.848-1	CCDS9542.2	13	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837712	0.71373	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC16	114029576	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	8.186000	0.89706	2.873000	0.98535	0.563000	0.77884	.	CDC16	-	-		0.279	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1	G	NM_003903	Intron	115011474	1	no_errors	ENST00000356221	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	115011474	G	T	115011474	5	4	131	1	0	0	0	0	0	0	1	0	3063	956	33	3	885	3	CDC16	13	115011474	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	260358	115011474	158404	1438	21578										
MYH6	4624	genome.wustl.edu	37	chr14	23862233	23862233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctcgctccaggtccatgcGcaccttcttctcttgctcta	7	16	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:23862233G>A	ENST00000356287.3	-	23	3168	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	MYH6_ENST00000405093.3_Missense_Mutation_p.R1047C			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1047					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGTCCATGCGCACCTTCTTC	0.498																																																	0													106	93	97					14																	23862233		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3139C>T	14.37:g.23862233G>A	ENSP00000348634:p.Arg1047Cys		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1047C	ENST00000356287.3	37	c.3139	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	21.4	4.146236	0.77888	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.95885	-3.84;-3.84	4.82	4.82	0.62117	.	.	.	.	.	D	0.98544	0.9514	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	9	0.87932	D	0	.	13.2859	0.60243	0.0:0.0:0.8416:0.1584	.	1047	P13533	MYH6_HUMAN	C	1047	ENSP00000386041:R1047C;ENSP00000348634:R1047C	ENSP00000348634:R1047C	R	-	1	0	MYH6	22932073	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	2.272000	0.43373	2.391000	0.81399	0.557000	0.71058	CGC	MYH6	-	NULL		0.498	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	G			23862233	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23862233	G	A	23862233	3	1	131	1	0	0	0	0	1	0	0	0	10061	1087	38	2	2744	2	MYH6	14	23862233	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09		23862233	83487307	1439	21579										
LRRC16B	90668	genome.wustl.edu	37	chr14	24524340	24524340	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacactgccgtgaggaggttCaatgggtatgttgggcaggg	17	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:24524340C>A	ENST00000342740.5	+	7	680	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	176						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGAGGAGGTTCAATGGGTATG	0.577																																																	0													151	135	140					14																	24524340		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.526C>A	14.37:g.24524340C>A	ENSP00000340467:p.Gln176Lys		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Q176K	ENST00000342740.5	37	c.526	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533180	0.45073	.	.	ENSG00000186648	ENST00000342740	T	0.52983	0.64	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000005	T	0.63838	0.2545	M	0.79123	2.44	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.63655	-0.6588	10	0.36615	T	0.2	-8.6922	12.6262	0.56630	0.0:1.0:0.0:0.0	.	176	Q8ND23	LR16B_HUMAN	K	176	ENSP00000340467:Q176K	ENSP00000340467:Q176K	Q	+	1	0	LRRC16B	23594180	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.087000	0.76893	2.342000	0.79632	0.462000	0.41574	CAA	LRRC16B	-	NULL		0.577	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	C	NM_138360		24524340	1	no_errors	ENST00000342740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24524340	C	A	24524340	3	1	131	1	0	0	0	0	1	0	0	0	8995	827	29	3	552	3	LRRC16B	14	24524340	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	662107	24524340	82825200	1440	21580										
RABGGTA	5875	genome.wustl.edu	37	chr14	24737824	24737824	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggcagcaggcaggtcacagAgctgggagtactgggtcaag	17	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:24737824A>G	ENST00000399409.3	-	9	1385	c.902T>C	c.(901-903)cTc>cCc	p.L301P	RABGGTA_ENST00000216840.6_Splice_Site_p.L301P|RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	301					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CAGGTCACAGAGCTGGGAGTA	0.557																																																	0													76	82	80					14																	24737824		2066	4198	6264	SO:0001630	splice_region_variant	5875				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.901-1T>C	14.37:g.24737824A>G			A8K5N2|D3DS69	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a	p.L301P	ENST00000399409.3	37	c.902	CCDS45088.1	14	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265020	0.59431	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.202149	0.45126	D	0.000382	T	0.60235	0.2253	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58741	-0.7583	10	0.39692	T	0.17	-7.9079	12.9523	0.58407	1.0:0.0:0.0:0.0	.	301	Q92696	PGTA_HUMAN	P	301;301;264	ENSP00000216840:L301P;ENSP00000382341:L301P	ENSP00000216840:L301P	L	-	2	0	RABGGTA	23807664	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.993000	0.76245	2.056000	0.61249	0.379000	0.24179	CTC	RABGGTA	-	pfam_RabGGT_asu_insert-domain,superfamily_RabGGT_asu_insert-domain		0.557	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	A	NM_182836	Missense_Mutation	24737824	-1	no_errors	ENST00000216840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24737824	A	G	24737824	5	3	131	1	0	0	0	0	0	0	1	0	12997	318	11	5	833	5	RABGGTA	14	24737824	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	213484	24737824	82611716	1441	21581										
NYNRIN	57523	genome.wustl.edu	37	chr14	24882303	24882303	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaaactgatggtcaaagatCggtaagatggtccccagagg	13	7	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:24882303C>T	ENST00000382554.3	+	7	3061	c.2743C>T	c.(2743-2745)Cgc>Tgc	p.R915C	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	915					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTCAAAGATCGGTAAGATGG	0.512																																																	0													61	58	59					14																	24882303		1985	4174	6159	SO:0001630	splice_region_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2744+1C>T	14.37:g.24882303C>T			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.R915C	ENST00000382554.3	37	c.2743	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833274	0.71258	.	.	ENSG00000205978	ENST00000382554	T	0.53640	0.61	4.9	4.9	0.64082	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.68504	0.3008	M	0.84326	2.69	0.48632	D	0.99968	D	0.89917	1.0	D	0.91635	0.999	T	0.72544	-0.4261	9	0.87932	D	0	.	10.6297	0.45530	0.1915:0.8085:0.0:0.0	.	915	Q9P2P1	NYNRI_HUMAN	C	915	ENSP00000371994:R915C	ENSP00000371994:R915C	R	+	1	0	NYNRIN	23952143	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.385000	0.44371	2.552000	0.86080	0.467000	0.42956	CGC	NYNRIN	-	pfam_RNase_Zc3h12		0.512	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C		Missense_Mutation	24882303	1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24882303	C	T	24882303	5	4	131	1	0	0	0	0	0	0	1	0	10820	898	31	1	2765	1	NYNRIN	14	24882303	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	144479	24882303	82467237	1442	21582										
PRKD1	5587	genome.wustl.edu	37	chr14	30066829	30066829	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atagatgatgaccccaacagAccacatgtctagagagcgat	9	10	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:30066829A>C	ENST00000331968.5	-	16	2531	c.2302T>G	c.(2302-2304)Tct>Gct	p.S768A	PRKD1_ENST00000415220.2_Missense_Mutation_p.S776A	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACCCCAACAGACCACATGTCT	0.488																																																	0													155	144	148					14																	30066829		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2302T>G	14.37:g.30066829A>C	ENSP00000333568:p.Ser768Ala		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S768A	ENST00000331968.5	37	c.2302	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502982	0.85176	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.88664	-2.41;-2.41	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	L	0.53561	1.675	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.92895	0.6334	10	0.52906	T	0.07	-18.8203	16.1219	0.81365	1.0:0.0:0.0:0.0	.	768	Q15139	KPCD1_HUMAN	A	768;776	ENSP00000333568:S768A;ENSP00000390535:S776A	ENSP00000333568:S768A	S	-	1	0	PRKD1	29136580	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.448000	0.80631	2.254000	0.74563	0.528000	0.53228	TCT	PRKD1	-	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		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	A	NM_002742		30066829	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30066829	A	C	30066829	3	2	131	1	0	0	0	0	1	0	0	0	12545	275	10	5	448	5	PRKD1	14	30066829	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	5184526	30066829	77282711	1443	21583										
COCH	1690	genome.wustl.edu	37	chr14	31358935	31358935	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagagagttcacaggattaGaaccaattgtttctgatgtc	9	7	2	3	rs149072811		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:31358935G>T	ENST00000396618.3	+	12	1647	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*	RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000460581.2_Nonsense_Mutation_p.E419*|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Nonsense_Mutation_p.E531*|COCH_ENST00000382493.4_Nonsense_Mutation_p.E382*	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	531	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CACAGGATTAGAACCAATTGT	0.413																																																	0													88	85	86					14																	31358935		2203	4300	6503	SO:0001587	stop_gained	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1591G>T	14.37:g.31358935G>T	ENSP00000379862:p.Glu531*		A8K9K9|D3DS84|Q96IU6	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.E531*	ENST00000396618.3	37	c.1591	CCDS9640.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.479534|6.479534	0.97598|0.97598	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000460581;ENST00000382493|ENST00000468826	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.290535|.	0.36893|.	N|.	0.002342|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.05436|.	T|.	0.98|.	-21.658|-21.658	18.4999|18.4999	0.90877|0.90877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	531;531;419;382|414	.|.	ENSP00000216361:E531X|.	E|X	+|+	1|3	0|2	COCH|COCH	30428686|30428686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.930000|2.930000	0.48924|0.48924	2.369000|2.369000	0.80426|0.80426	0.591000|0.591000	0.81541|0.81541	GAA|TAG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.413	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	G	NM_004086		31358935	1	no_errors	ENST00000216361	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	31358935	G	T	31358935	4	4	131	1	0	0	0	0	0	1	0	0	3661	943	33	3	1633	3	COCH	14	31358935	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1292106	31358935	75990605	1444	21584										
NPAS3	64067	genome.wustl.edu	37	chr14	33836443	33836443	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcactagccattgaagtatTtgaagcacatttgggaagcc	10	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:33836443T>G	ENST00000356141.4	+	4	437	c.437T>G	c.(436-438)tTt>tGt	p.F146C	NPAS3_ENST00000346562.2_Missense_Mutation_p.F114C|NPAS3_ENST00000548645.1_Missense_Mutation_p.F116C|NPAS3_ENST00000357798.5_Missense_Mutation_p.F133C|NPAS3_ENST00000547068.1_Missense_Mutation_p.F42C|NPAS3_ENST00000551008.1_Missense_Mutation_p.F44C|NPAS3_ENST00000341321.4_Missense_Mutation_p.F146C|NPAS3_ENST00000551492.1_Missense_Mutation_p.F151C			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	146					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATTGAAGTATTTGAAGCACAT	0.338																																																	0													68	66	67					14																	33836443		2203	4300	6503	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.437T>G	14.37:g.33836443T>G	ENSP00000348460:p.Phe146Cys		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.F146C	ENST00000356141.4	37	c.437	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687802	0.68271	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000547068;ENST00000551008;ENST00000546849	T;T;T;T;T;T;T	0.49432	3.37;3.18;3.23;0.78;3.24;3.22;3.06	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.61476	0.2350	L	0.43152	1.355	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.996;0.992;0.981;0.992;0.994	T	0.60811	-0.7189	10	0.44086	T	0.13	.	15.6625	0.77199	0.0:0.0:0.0:1.0	.	44;116;146;114;133	F8W0C2;Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;.;NPAS3_HUMAN;.;.	C	123;151;114;146;116;146;133;42;44;56	ENSP00000448373:F123C;ENSP00000450392:F151C;ENSP00000319610:F114C;ENSP00000344158:F146C;ENSP00000448916:F116C;ENSP00000348460:F146C;ENSP00000350446:F133C	ENSP00000344158:F146C	F	+	2	0	NPAS3	32906194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.464000	0.73534	2.107000	0.64212	0.533000	0.62120	TTT	NPAS3	-	NULL		0.338	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	T			33836443	1	no_errors	ENST00000356141	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33836443	T	G	33836443	3	3	131	1	0	0	0	0	1	0	0	0	10588	1841	64	5	506	5	NPAS3	14	33836443	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2477508	33836443	73513097	1445	21585										
NKX2-1	7080	genome.wustl.edu	37	chr14	36988394	36988394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcgccgtggtgccccacggCgtgctgctgcatggccgctg	17	15	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:36988394C>T	ENST00000518149.1	-	2	774	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.A57T|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.A87T|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A57T			P43699	NKX21_HUMAN	NK2 homeobox 1	57					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCCACGGCGTGCTGCTGC	0.736			A		NSCLC																																			Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													6	8	7					14																	36988394		2008	4011	6019	SO:0001583	missense	7080				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.169G>A	14.37:g.36988394C>T	ENSP00000428341:p.Ala57Thr		D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A87T	ENST00000518149.1	37	c.259	CCDS9659.1	14	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445292	0.25987	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	4.59	3.66	0.41972	.	0.411750	0.26096	N	0.026380	T	0.59824	0.2222	L	0.43152	1.355	0.32675	N	0.516249	P;B	0.37914	0.611;0.329	B;B	0.28465	0.09;0.028	T	0.65776	-0.6086	10	0.15499	T	0.54	.	13.3794	0.60759	0.0:0.7617:0.2383:0.0	.	87;57	P43699-3;P43699	.;NKX21_HUMAN	T	87;57;57;57	ENSP00000346879:A87T;ENSP00000429607:A57T;ENSP00000428341:A57T;ENSP00000429519:A57T	ENSP00000346879:A87T	A	-	1	0	NKX2-1	36058145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.161000	0.58170	2.381000	0.81170	0.462000	0.41574	GCC	NKX2-1	-	NULL		0.736	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-1	HGNC	protein_coding	OTTHUMT00000376225.2	C	NM_003317		36988394	-1	no_errors	ENST00000354822	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36988394	C	T	36988394	3	4	131	1	0	0	0	0	1	0	0	0	10473	768	27	2	954	2	NKX2-1	14	36988394	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3151951	36988394	70361146	1446	21586										
CTAGE5	4253	genome.wustl.edu	37	chr14	39777662	39777662	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttatatagagcatattaAaaatcttcagactgaacaag	5	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:39777662A>C	ENST00000280083.3	+	13	1378	c.1064A>C	c.(1063-1065)aAa>aCa	p.K355T	CTAGE5_ENST00000396158.2_Missense_Mutation_p.K360T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K355T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K355T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.K280T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K326T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K275T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.K326T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K326T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.K890T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K343T			O15320	CTGE5_HUMAN	CTAGE family, member 5	355					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAGCATATTAAAAATCTTCAG	0.249																																																	0													19	21	20					14																	39777662		2092	4147	6239	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1064A>C	14.37:g.39777662A>C	ENSP00000280083:p.Lys355Thr		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.K360T	ENST00000280083.3	37	c.1079	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	A	15.99	2.996280	0.54147	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79247	2.29;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.4	4.26	0.50523	.	.	.	.	.	D	0.83326	0.5230	M	0.73217	2.22	0.34110	D	0.662929	D;P;P;P;P;P	0.56287	0.975;0.921;0.64;0.921;0.917;0.921	P;P;P;P;P;P	0.58928	0.848;0.735;0.627;0.735;0.839;0.735	D	0.86734	0.1950	8	.	.	.	.	9.5652	0.39394	0.9196:0.0:0.0804:0.0	.	317;360;355;355;326;343	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	T	890;343;275;317;326;355;360;355;280;355;326	ENSP00000452252:K890T;ENSP00000343897:K343T;ENSP00000450869:K275T;ENSP00000379468:K326T;ENSP00000339286:K355T;ENSP00000379462:K360T;ENSP00000280083:K355T;ENSP00000452562:K280T;ENSP00000343912:K355T;ENSP00000450449:K326T	.	K	+	2	0	CTAGE5;RP11-407N17.3	38847413	1.000000	0.71417	0.668000	0.29813	0.714000	0.41099	3.592000	0.53993	0.906000	0.36621	-0.361000	0.07541	AAA	CTAGE5	-	NULL		0.249	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	A	NM_005930		39777662	1	no_errors	ENST00000396158	ensembl	human	known	70_37	missense	SNP	0.709	C	C	39777662	A	C	39777662	3	2	131	1	0	0	0	0	1	0	0	0	3999	14	1	5	1145	5	CTAGE5	14	39777662	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2789268	39777662	67571878	1447	21587										
LRFN5	145581	genome.wustl.edu	37	chr14	42355841	42355841	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatctacaatggaaaaaattCttttttatctgtttctcatt	4	6	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:42355841C>A	ENST00000298119.4	+	3	1202	c.13C>A	c.(13-15)Ctt>Att	p.L5I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L5I|LRFN5_ENST00000554171.1_Missense_Mutation_p.L5I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	5						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGAAAAAATTCTTTTTTATCT	0.368										HNSCC(30;0.082)																																							0													47	48	48					14																	42355841		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.13C>A	14.37:g.42355841C>A	ENSP00000298119:p.Leu5Ile		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L5I	ENST00000298119.4	37	c.13	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625626	0.28889	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54479	0.67;0.58;0.57	5.56	4.65	0.58169	.	0.000000	0.50627	D	0.000103	T	0.44932	0.1317	L	0.46741	1.465	0.37653	D	0.922463	B;B	0.23650	0.089;0.026	B;B	0.28139	0.086;0.041	T	0.48833	-0.9000	10	0.49607	T	0.09	.	7.703	0.28634	0.0:0.7471:0.1669:0.0861	.	5;5	G3V364;Q96NI6	.;LRFN5_HUMAN	I	5	ENSP00000298119:L5I;ENSP00000451897:L5I;ENSP00000451067:L5I	ENSP00000298119:L5I	L	+	1	0	LRFN5	41425591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.611000	0.46334	1.292000	0.44672	0.650000	0.86243	CTT	LRFN5	-	NULL		0.368	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	C	NM_152447		42355841	1	no_errors	ENST00000298119	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42355841	C	A	42355841	3	1	131	1	0	0	0	0	1	0	0	0	8964	913	32	3	15	3	LRFN5	14	42355841	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2578179	42355841	64993699	1448	21588										
MDGA2	161357	genome.wustl.edu	37	chr14	47601038	47601038	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agattctttagttttaagatCtttgtttcaccctgaaaatg	6	6	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:47601038C>A	ENST00000399232.2	-	5	961	c.597G>T	c.(595-597)aaG>aaT	p.K199N	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.K268N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	199	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K268K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTTTAAGATCTTTGTTTCAC	0.328																																																	1	Substitution - coding silent(1)	lung(1)											153	119	130					14																	47601038		692	1589	2281	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.597G>T	14.37:g.47601038C>A	ENSP00000382178:p.Lys199Asn		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.K268N	ENST00000399232.2	37	c.804		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673731|3.673731	0.67928|0.67928	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000399232	.|T;T	.|0.03035	.|4.07;4.07	5.34|5.34	3.49|3.49	0.39957|0.39957	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.53938	.|U	.|0.000054	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|P	.|0.58391	.|0.838	T|T	0.02257|0.02257	-1.1187|-1.1187	5|10	.|0.59425	.|D	.|0.04	.|.	11.551|11.551	0.50721|0.50721	0.0:0.8431:0.0:0.1569|0.0:0.8431:0.0:0.1569	.|.	.|199	.|Q7Z553	.|MDGA2_HUMAN	Y|N	2|199;268	.|ENSP00000400011:K199N;ENSP00000382178:K268N	.|ENSP00000382178:K268N	D|K	-|-	1|3	0|2	MDGA2|MDGA2	46670788|46670788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.922000|2.922000	0.48860|0.48860	1.390000|1.390000	0.46547|0.46547	0.585000|0.585000	0.79938|0.79938	GAT|AAG	MDGA2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.328	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	C	NM_182830		47601038	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47601038	C	A	47601038	3	1	131	1	0	0	0	0	1	0	0	0	9430	912	32	3	2325	3	MDGA2	14	47601038	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5245197	47601038	59748502	1449	21589										
NID2	22795	genome.wustl.edu	37	chr14	52520402	52520402	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acttcgaagaacaatttcttCttcaggatgagctgggggaa	11	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:52520402C>A	ENST00000216286.5	-	5	1323	c.1324G>T	c.(1324-1326)Gaa>Taa	p.E442*	NID2_ENST00000541773.1_Nonsense_Mutation_p.E389*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	442					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACAATTTCTTCTTCAGGATGA	0.532																																																	0													97	97	97					14																	52520402		2203	4300	6503	SO:0001587	stop_gained	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1324G>T	14.37:g.52520402C>A	ENSP00000216286:p.Glu442*		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E442*	ENST00000216286.5	37	c.1324	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539528	0.85917	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	.	.	.	5.1	2.28	0.28536	.	1.192640	0.05507	N	0.559471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.831	0.18581	0.0:0.6257:0.1381:0.2362	.	.	.	.	X	442;389;444	.	ENSP00000216286:E442X	E	-	1	0	NID2	51590152	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.008000	0.12788	0.183000	0.20059	0.655000	0.94253	GAA	NID2	-	NULL		0.532	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	C			52520402	-1	no_errors	ENST00000216286	ensembl	human	known	70_37	nonsense	SNP	0.046	A	A	52520402	C	A	52520402	4	1	131	1	0	0	0	0	0	1	0	0	10439	922	32	3	2875	3	NID2	14	52520402	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4919364	52520402	54829138	1450	21590										
PSMC6	5706	genome.wustl.edu	37	chr14	53184808	53184808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcattcttaggtacgggaaAaacactcttggcacgagccg	11	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:53184808A>C	ENST00000606149.1	+	8	555	c.539A>C	c.(538-540)aAa>aCa	p.K180T	PSMC6_ENST00000445930.2_Missense_Mutation_p.K194T	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GGTACGGGAAAAACACTCTTG	0.368																																																	0													97	100	99					14																	53184808		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.539A>C	14.37:g.53184808A>C	ENSP00000475721:p.Lys180Thr		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.K194T	ENST00000606149.1	37	c.581		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.73|18.73	3.686626|3.686626	0.68157|0.68157	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000555339;ENST00000556813|ENST00000445930	.|D	.|0.99771	.|-6.71	4.91|4.91	4.91|4.91	0.64330|0.64330	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99883|0.99883	0.9944|0.9944	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96197|0.96197	0.9142|0.9142	6|10	.|0.87932	.|D	.|0	.|.	14.8417|14.8417	0.70230|0.70230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|180;160	.|P62333;B4DR91	.|PRS10_HUMAN;.	N|T	140;179|194	.|ENSP00000401802:K194T	.|ENSP00000401802:K194T	K|K	+|+	3|2	2|0	PSMC6|PSMC6	52254558|52254558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.670000|0.670000	0.39368|0.39368	8.923000|8.923000	0.92808|0.92808	1.978000|1.978000	0.57642|0.57642	0.482000|0.482000	0.46254|0.46254	AAA|AAA	PSMC6	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.368	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	PSMC6	HGNC	protein_coding	OTTHUMT00000470741.1	A	NM_002806		53184808	1	no_errors	ENST00000445930	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53184808	A	C	53184808	3	2	131	1	0	0	0	0	1	0	0	0	12718	14	1	5	611	5	PSMC6	14	53184808	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	664406	53184808	54164732	1451	21591										
FERMT2	10979	genome.wustl.edu	37	chr14	53341944	53341944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaagattcaccctaccaaAattgttgacgttttaccccc	4	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:53341944A>C	ENST00000395631.2	-	8	1311	c.1095T>G	c.(1093-1095)atT>atG	p.I365M	FERMT2_ENST00000553373.1_Missense_Mutation_p.I365M|FERMT2_ENST00000343279.4_Missense_Mutation_p.I365M|FERMT2_ENST00000399304.3_Missense_Mutation_p.I365M|FERMT2_ENST00000341590.3_Missense_Mutation_p.I365M			Q96AC1	FERM2_HUMAN	fermitin family member 2	365	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACCCTACCAAAATTGTTGACG	0.388																																																	0													101	93	96					14																	53341944		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1095T>G	14.37:g.53341944A>C	ENSP00000378993:p.Ile365Met		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I365M	ENST00000395631.2	37	c.1095	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132436	0.37630	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.43294	0.95;0.95;0.97;0.96;0.96;0.96	5.52	3.09	0.35607	Band 4.1 domain (1);FERM central domain (2);	0.149334	0.64402	D	0.000012	T	0.41858	0.1177	N	0.21142	0.635	0.50813	D	0.999891	B;B;B	0.32893	0.338;0.389;0.389	P;P;P	0.50896	0.521;0.653;0.653	T	0.23868	-1.0176	10	0.30078	T	0.28	.	9.8871	0.41268	0.797:0.0:0.203:0.0	.	365;365;365	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	M	365;365;318;365;365;365	ENSP00000378993:I365M;ENSP00000340391:I365M;ENSP00000450741:I318M;ENSP00000342858:I365M;ENSP00000451084:I365M;ENSP00000382243:I365M	ENSP00000340391:I365M	I	-	3	3	FERMT2	52411694	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	1.317000	0.33631	0.437000	0.26423	0.533000	0.62120	ATT	FERMT2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.388	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	A	NM_006832		53341944	-1	no_errors	ENST00000343279	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53341944	A	C	53341944	3	2	131	1	0	0	0	0	1	0	0	0	5836	10	1	5	1016	5	FERMT2	14	53341944	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	157136	53341944	54007596	1452	21592										
FBXO34	55030	genome.wustl.edu	37	chr14	55817284	55817284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctcggtaaagcatcatctcGaaagccatttgggatccttt	8	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:55817284G>A	ENST00000313833.4	+	2	421	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.R59Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	59										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GCATCATCTCGAAAGCCATTT	0.428																																																	0													149	144	146					14																	55817284		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.176G>A	14.37:g.55817284G>A	ENSP00000313159:p.Arg59Gln		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R59Q	ENST00000313833.4	37	c.176	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437472	0.25900	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.29917	1.55;1.55	4.67	3.73	0.42828	.	0.586436	0.15351	N	0.266976	T	0.30324	0.0761	M	0.66939	2.045	0.42273	D	0.992067	B	0.28128	0.201	B	0.18263	0.021	T	0.09378	-1.0677	10	0.40728	T	0.16	.	10.6711	0.45760	0.1698:0.0:0.8302:0.0	.	59	Q9NWN3	FBX34_HUMAN	Q	59	ENSP00000313159:R59Q;ENSP00000394117:R59Q	ENSP00000313159:R59Q	R	+	2	0	FBXO34	54887037	1.000000	0.71417	0.304000	0.25085	0.003000	0.03518	3.693000	0.54735	1.241000	0.43820	-0.345000	0.07892	CGA	FBXO34	-	NULL		0.428	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	G			55817284	1	no_errors	ENST00000313833	ensembl	human	known	70_37	missense	SNP	0.779	A	A	55817284	G	A	55817284	3	1	131	1	0	0	0	0	1	0	0	0	5762	1058	37	1	178	1	FBXO34	14	55817284	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2475340	55817284	51532256	1453	21593										
FBXO34	55030	genome.wustl.edu	37	chr14	55817886	55817886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgccccaggagcttgtgaaGaacccacagaaaggggaaat	12	10	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:55817886G>T	ENST00000313833.4	+	2	1023	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	FBXO34_ENST00000440021.1_Nonsense_Mutation_p.E260*	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	260										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCTTGTGAAGAACCCACAGA	0.512																																																	0													74	75	75					14																	55817886		2203	4300	6503	SO:0001587	stop_gained	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.778G>T	14.37:g.55817886G>T	ENSP00000313159:p.Glu260*		Q2VPB5|Q4VBP5|Q86TY4	Nonsense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E260*	ENST00000313833.4	37	c.778	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080935	0.55753	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	.	.	.	5.39	5.39	0.77823	.	0.218384	0.28706	N	0.014404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-31.8179	10.9426	0.47283	0.0:0.1394:0.7163:0.1444	.	.	.	.	X	260	.	ENSP00000313159:E260X	E	+	1	0	FBXO34	54887639	0.585000	0.26774	0.989000	0.46669	0.221000	0.24807	2.281000	0.43452	2.852000	0.98041	0.638000	0.83543	GAA	FBXO34	-	NULL		0.512	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	G			55817886	1	no_errors	ENST00000313833	ensembl	human	known	70_37	nonsense	SNP	0.797	T	T	55817886	G	T	55817886	4	4	131	1	0	0	0	0	0	1	0	0	5762	943	33	3	780	3	FBXO34	14	55817886	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	602	55817886	51531654	1454	21594										
TBPL2	387332	genome.wustl.edu	37	chr14	55903419	55903419	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtatcaccagggtgcagctgTgaatgggaatttgacaaact	12	7	1	2	rs375395251		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:55903419T>G	ENST00000247219.5	-	2	538	c.468A>C	c.(466-468)tcA>tcC	p.S156S		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGTGCAGCTGTGAATGGGAAT	0.498																																																	0													216	185	196					14																	55903419		2203	4300	6503	SO:0001819	synonymous_variant	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.468A>C	14.37:g.55903419T>G				Silent	SNP	pfam_TBP,prints_TBP	p.S156	ENST00000247219.5	37	c.468	CCDS9724.1	14																																																																																			TBPL2	-	NULL		0.498	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	T	NM_199047		55903419	-1	no_errors	ENST00000247219	ensembl	human	known	70_37	silent	SNP	0.000	G	G	55903419	T	G	55903419	2	3	131	1	0	0	0	0	0	0	0	1	15676	1683	59	5		5	TBPL2	14	55903419	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	85533	55903419	51446121	1455	21595										
C14orf37	145407	genome.wustl.edu	37	chr14	58605625	58605625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caacagtcagagaaggagtcGcagtgatagcaatggttaac	12	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:58605625G>A	ENST00000267485.7	-	2	646	c.452C>T	c.(451-453)gCg>gTg	p.A151V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	151						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGAAGGAGTCGCAGTGATAGC	0.458																																																	0													53	50	51					14																	58605625		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.452C>T	14.37:g.58605625G>A	ENSP00000267485:p.Ala151Val		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.A151V	ENST00000267485.7	37	c.452	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	g	11.43	1.636130	0.29068	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.23147	1.92	5.78	1.82	0.25136	.	0.835223	0.10850	N	0.627299	T	0.15392	0.0371	L	0.44542	1.39	0.09310	N	1	B;P;B;B	0.38078	0.36;0.617;0.36;0.36	B;B;B;B	0.26614	0.042;0.071;0.042;0.042	T	0.17107	-1.0380	10	0.31617	T	0.26	-1.4345	4.374	0.11262	0.2575:0.0:0.5891:0.1534	.	189;151;151;151	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	151;189	ENSP00000267485:A151V	ENSP00000267485:A151V	A	-	2	0	C14orf37	57675378	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.083000	0.14871	0.061000	0.16311	-0.713000	0.03633	GCG	C14orf37	-	NULL		0.458	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	G	NM_001001872		58605625	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58605625	G	A	58605625	3	1	131	1	0	0	0	0	1	0	0	0	1775	1087	38	2	1900	2	C14orf37	14	58605625	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2702206	58605625	48743915	1456	21596										
ARID4A	5926	genome.wustl.edu	37	chr14	58817869	58817869	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaacagaagacaaattaaaaGataatgatacagaaaataag	6	3	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:58817869G>T	ENST00000355431.3	+	16	1856	c.1483G>T	c.(1483-1485)Gat>Tat	p.D495Y	ARID4A_ENST00000395168.3_Missense_Mutation_p.D495Y|ARID4A_ENST00000431317.2_Missense_Mutation_p.D495Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.D495Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	495					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAAATTAAAAGATAATGATAC	0.328																																																	0													58	64	62					14																	58817869		2202	4281	6483	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1483G>T	14.37:g.58817869G>T	ENSP00000347602:p.Asp495Tyr		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.D495Y	ENST00000355431.3	37	c.1483	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055973	0.36277	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.44482	0.92;2.4;2.41;2.4;2.39	5.62	4.72	0.59763	.	0.641504	0.16629	N	0.206142	T	0.39937	0.1097	N	0.24115	0.695	0.42742	D	0.993741	P;B;P	0.48016	0.904;0.198;0.755	P;B;B	0.47251	0.542;0.224;0.444	T	0.40232	-0.9574	10	0.66056	D	0.02	-3.9104	16.4509	0.83990	0.0:0.1313:0.8687:0.0	.	495;495;495	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Y	495;495;495;495;173	ENSP00000347602:D495Y;ENSP00000344556:D495Y;ENSP00000378597:D495Y;ENSP00000397368:D495Y;ENSP00000416053:D173Y	ENSP00000344556:D495Y	D	+	1	0	ARID4A	57887622	1.000000	0.71417	0.897000	0.35233	0.972000	0.66771	4.019000	0.57181	1.340000	0.45581	0.655000	0.94253	GAT	ARID4A	-	NULL		0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58817869	1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	0.999	T	T	58817869	G	T	58817869	3	4	131	1	0	0	0	0	1	0	0	0	919	942	33	3	1541	3	ARID4A	14	58817869	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	212244	58817869	48531671	1457	21597										
RTN1	6252	genome.wustl.edu	37	chr14	60074026	60074026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagggtggccttcgtcggtTttctgcactgcttgtaaaac	11	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:60074026T>G	ENST00000267484.5	-	4	2285	c.1950A>C	c.(1948-1950)aaA>aaC	p.K650N	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Missense_Mutation_p.K67N|RTN1_ENST00000342503.4_Missense_Mutation_p.K82N	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	650	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTCGTCGGTTTTCTGCACTG	0.562																																																	0													75	65	69					14																	60074026		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1950A>C	14.37:g.60074026T>G	ENSP00000267484:p.Lys650Asn		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.K650N	ENST00000267484.5	37	c.1950	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061988	0.76187	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.50001	0.76;0.76;0.76	5.99	0.963	0.19649	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.74515	-0.3640	10	0.87932	D	0	.	10.3646	0.44015	0.0:0.3602:0.0:0.6398	.	67;650;82	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	N	230;650;67;82;576	ENSP00000267484:K650N;ENSP00000378525:K67N;ENSP00000340716:K82N	ENSP00000267484:K650N	K	-	3	2	RTN1	59143779	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.555000	0.23422	-0.035000	0.13691	0.533000	0.62120	AAA	RTN1	-	pfam_Reticulon,pfscan_Reticulon		0.562	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	T			60074026	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.999	G	G	60074026	T	G	60074026	3	3	131	1	0	0	0	0	1	0	0	0	13755	1838	64	5	404	5	RTN1	14	60074026	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1256157	60074026	47275514	1458	21598										
SYT16	83851	genome.wustl.edu	37	chr14	62567172	62567172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagatgtcccgttgcaagaCgtccattcggcgtggtcagc	13	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:62567172C>T	ENST00000430451.2	+	6	1882	c.1685C>T	c.(1684-1686)aCg>aTg	p.T562M	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	562	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGTTGCAAGACGTCCATTCGG	0.458																																																	0													67	62	63					14																	62567172		1924	4122	6046	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1685C>T	14.37:g.62567172C>T	ENSP00000394700:p.Thr562Met		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T562M	ENST00000430451.2	37	c.1685	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879123	0.91740	.	.	ENSG00000139973	ENST00000430451	D	0.87729	-2.29	5.61	5.61	0.85477	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96978	0.9713	10	0.87932	D	0	-0.0685	19.6373	0.95740	0.0:1.0:0.0:0.0	.	562	Q17RD7	SYT16_HUMAN	M	562	ENSP00000394700:T562M	ENSP00000394700:T562M	T	+	2	0	SYT16	61636925	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	7.461000	0.80834	2.636000	0.89361	0.655000	0.94253	ACG	SYT16	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.458	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	C	NM_031914		62567172	1	no_errors	ENST00000430451	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	62567172	C	T	62567172	3	4	131	1	0	0	0	0	1	0	0	0	15502	536	19	2	1707	2	SYT16	14	62567172	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2493146	62567172	44782368	1459	21599										
SYNE2	23224	genome.wustl.edu	37	chr14	64449481	64449481	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actgagaaggctgaataaaaGatggagaaagttggtttcaa	12	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:64449481G>T	ENST00000344113.4	+	17	2182	c.1970G>T	c.(1969-1971)aGa>aTa	p.R657I	SYNE2_ENST00000554584.1_Missense_Mutation_p.R657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.R657I|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	657					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGAATAAAAGATGGAGAAAG	0.338																																																	0													99	96	97					14																	64449481		1858	4111	5969	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1970G>T	14.37:g.64449481G>T	ENSP00000341781:p.Arg657Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R657I	ENST00000344113.4	37	c.1970	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097654	0.56075	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.67171	0.06;0.06;-0.25	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000008	T	0.80358	0.4608	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.98;0.991	T	0.81829	-0.0753	10	0.87932	D	0	.	12.3289	0.55028	0.0785:0.0:0.9215:0.0	.	657;657	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	657	ENSP00000350719:R657I;ENSP00000341781:R657I;ENSP00000452570:R657I	ENSP00000261678:R657I	R	+	2	0	SYNE2	63519234	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.219000	0.32479	2.767000	0.95098	0.655000	0.94253	AGA	SYNE2	-	NULL		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64449481	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64449481	G	T	64449481	3	4	131	1	0	0	0	0	1	0	0	0	15476	942	33	3	2032	3	SYNE2	14	64449481	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1882309	64449481	42900059	1460	21600										
SYNE2	23224	genome.wustl.edu	37	chr14	64529495	64529495	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgagaattacaaatgctataGaaaaatggaagaggatattt	9	2	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:64529495G>T	ENST00000344113.4	+	50	10306	c.10094G>T	c.(10093-10095)aGa>aTa	p.R3365I	SYNE2_ENST00000554584.1_Missense_Mutation_p.R3398I|SYNE2_ENST00000555002.1_5'Flank|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3365I|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3365					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGCTATAGAAAAATGGAA	0.338																																																	0													56	53	54					14																	64529495		1839	4092	5931	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10094G>T	14.37:g.64529495G>T	ENSP00000341781:p.Arg3365Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R3365I	ENST00000344113.4	37	c.10094	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	9.065	0.995382	0.19043	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.50001	1.32;0.76;1.32	5.78	1.3	0.21679	.	1.128880	0.06457	N	0.728712	T	0.31827	0.0809	L	0.29908	0.895	0.09310	N	0.999992	B;B	0.20261	0.025;0.043	B;B	0.12837	0.004;0.008	T	0.31668	-0.9935	10	0.51188	T	0.08	.	0.777	0.01034	0.396:0.1801:0.2659:0.1581	.	3365;3365	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3365;3365;3398;3398	ENSP00000350719:R3365I;ENSP00000341781:R3365I;ENSP00000452570:R3398I	ENSP00000261678:R3398I	R	+	2	0	SYNE2	63599248	0.008000	0.16893	0.000000	0.03702	0.144000	0.21451	1.096000	0.30976	0.340000	0.23745	-0.150000	0.13652	AGA	SYNE2	-	NULL		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64529495	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.000	T	T	64529495	G	T	64529495	3	4	131	1	0	0	0	0	1	0	0	0	15476	942	33	3	10288	3	SYNE2	14	64529495	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	80014	64529495	42820045	1461	21601										
FUT8	2530	genome.wustl.edu	37	chr14	66208817	66208817	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattctttcccaaggtctgtCgagttgcttatgaaattatg	8	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:66208817C>T	ENST00000360689.5	+	11	3144	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	FUT8_ENST00000394585.1_Nonsense_Mutation_p.R473*|FUT8_ENST00000557164.1_Nonsense_Mutation_p.R310*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.R344*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R473*|FUT8_ENST00000417683.1_Nonsense_Mutation_p.R67*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	473	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAAGGTCTGTCGAGTTGCTTA	0.403																																																	0													86	88	87					14																	66208817		2203	4300	6503	SO:0001587	stop_gained	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1417C>T	14.37:g.66208817C>T	ENSP00000353910:p.Arg473*		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.R473*	ENST00000360689.5	37	c.1417	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	C	43	10.086436	0.99333	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	.	.	.	6.17	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6487	7.4882	0.27445	0.2945:0.6297:0.0:0.0758	.	.	.	.	X	473;473;310;473;344;67	.	ENSP00000351057:R344X	R	+	1	2	FUT8	65278570	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.433000	0.44793	0.891000	0.36235	-0.150000	0.13652	CGA	FUT8	-	pirsf_Alpha1_6FUT_euk		0.403	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	C	NM_004480		66208817	1	no_errors	ENST00000360689	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	66208817	C	T	66208817	4	4	131	1	0	0	0	0	0	1	0	0	6128	876	31	1	1550	1	FUT8	14	66208817	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1679322	66208817	41140723	1462	21602										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68229033	68229033	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggcttcagacagcgactgaActtctcccgtgcagcagtga	12	12	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:68229033A>C	ENST00000347230.4	-	34	6394	c.6256T>G	c.(6256-6258)Ttc>Gtc	p.F2086V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.F2086V|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2086					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCGACTGAACTTCTCCCGT	0.582																																																	0													100	81	88					14																	68229033		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6256T>G	14.37:g.68229033A>C	ENSP00000251119:p.Phe2086Val		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.F2086V	ENST00000347230.4	37	c.6256	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438084	0.83885	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.50277	0.89;0.75	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.65815	0.995;0.991	D;P	0.66716	0.946;0.79	T	0.73616	-0.3926	10	0.87932	D	0	-22.2396	15.7063	0.77583	1.0:0.0:0.0:0.0	.	2086;2086	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	2086;2065;2086	ENSP00000251119:F2086V;ENSP00000450603:F2086V	ENSP00000251119:F2086V	F	-	1	0	ZFYVE26	67298786	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.502000	0.81614	2.118000	0.64928	0.533000	0.62120	TTC	ZFYVE26	-	NULL		0.582	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	A	NM_015346		68229033	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68229033	A	C	68229033	3	2	131	1	0	0	0	0	1	0	0	0	17698	43	2	5	1399	5	ZFYVE26	14	68229033	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2020216	68229033	39120507	1463	21603										
ADAM21	8747	genome.wustl.edu	37	chr14	70924354	70924354	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccggaagtggtgatccccttGaaggtgatcagcaggggcag	16	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:70924354G>T	ENST00000603540.1	+	2	396	c.138G>T	c.(136-138)ttG>ttT	p.L46F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L46F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	46					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGATCCCCTTGAAGGTGATCA	0.542																																																	0													90	95	93					14																	70924354		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.138G>T	14.37:g.70924354G>T	ENSP00000474385:p.Leu46Phe		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L46F	ENST00000603540.1	37	c.138	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598420	0.28445	.	.	ENSG00000139985	ENST00000267499	T	0.06068	3.35	3.77	1.73	0.24493	Peptidase M12B, propeptide (1);	0.246452	0.19741	U	0.107108	T	0.16896	0.0406	M	0.86953	2.85	0.09310	N	1	B	0.31931	0.347	P	0.45794	0.493	T	0.06789	-1.0807	10	0.62326	D	0.03	.	6.3104	0.21161	0.1886:0.1539:0.6576:0.0	.	46	Q9UKJ8	ADA21_HUMAN	F	46	ENSP00000267499:L46F	ENSP00000267499:L46F	L	+	3	2	ADAM21	69994107	0.104000	0.21937	0.978000	0.43139	0.590000	0.36582	0.669000	0.25142	0.922000	0.37019	0.563000	0.77884	TTG	ADAM21	-	pfam_Peptidase_M12B_N		0.542	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G			70924354	1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.032	T	T	70924354	G	T	70924354	3	4	131	1	0	0	0	0	1	0	0	0	243	1281	45	3	140	3	ADAM21	14	70924354	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2695321	70924354	36425186	1464	21604										
ADAM21	8747	genome.wustl.edu	37	chr14	70924619	70924619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttttgggggctttcgaggaGtattaaaaataagtggcctc	13	5	0	0	rs201084163		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:70924619G>T	ENST00000603540.1	+	2	661	c.403G>T	c.(403-405)Gta>Tta	p.V135L	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.V135L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	135					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTTCGAGGAGTATTAAAAAT	0.433																																																	0													69	79	76					14																	70924619		2202	4300	6502	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.403G>T	14.37:g.70924619G>T	ENSP00000474385:p.Val135Leu		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V135L	ENST00000603540.1	37	c.403	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033658	0.02029	.	.	ENSG00000139985	ENST00000267499	T	0.05258	3.47	3.76	-3.48	0.04739	Peptidase M12B, propeptide (1);	0.453466	0.17708	U	0.164677	T	0.02494	0.0076	N	0.11892	0.195	0.09310	N	1	B	0.13594	0.008	B	0.18871	0.023	T	0.45498	-0.9257	10	0.10636	T	0.68	.	5.9378	0.19175	0.5346:0.0:0.3447:0.1207	.	135	Q9UKJ8	ADA21_HUMAN	L	135	ENSP00000267499:V135L	ENSP00000267499:V135L	V	+	1	0	ADAM21	69994372	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.539000	0.06113	-0.637000	0.05516	-0.321000	0.08615	GTA	ADAM21	-	pfam_Peptidase_M12B_N		0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G			70924619	1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.000	T	T	70924619	G	T	70924619	3	4	131	1	0	0	0	0	1	0	0	0	243	1029	36	4	405	4	ADAM21	14	70924619	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	265	70924619	36424921	1465	21605										
PCNX	22990	genome.wustl.edu	37	chr14	71575464	71575464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccactgggtttgtgccttgtCggcgctcttctactagtcag	11	12	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:71575464C>T	ENST00000304743.2	+	34	6891	c.6445C>T	c.(6445-6447)Cgg>Tgg	p.R2149W	PCNX_ENST00000238570.5_Missense_Mutation_p.R2077W|PCNX_ENST00000439984.3_Missense_Mutation_p.R2038W|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2149	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTGCCTTGTCGGCGCTCTTC	0.557																																																	0													76	71	73					14																	71575464		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6445C>T	14.37:g.71575464C>T	ENSP00000304192:p.Arg2149Trp		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.R2149W	ENST00000304743.2	37	c.6445	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910386	0.52439	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12039	3.11;3.17;2.72	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.60455	1.87	0.33777	D	0.623827	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.993	T	0.37526	-0.9702	10	0.87932	D	0	.	15.3096	0.74019	0.1398:0.8601:0.0:0.0	.	2077;2038;2149	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	W	2149;2077;2038	ENSP00000304192:R2149W;ENSP00000238570:R2077W;ENSP00000396617:R2038W	ENSP00000238570:R2077W	R	+	1	2	PCNX	70645217	0.998000	0.40836	0.999000	0.59377	0.101000	0.19017	3.896000	0.56266	2.868000	0.98415	0.557000	0.71058	CGG	PCNX	-	NULL		0.557	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	C	NM_014982		71575464	1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	0.997	T	T	71575464	C	T	71575464	3	4	131	1	0	0	0	0	1	0	0	0	11615	875	31	1	6579	1	PCNX	14	71575464	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	650845	71575464	35774076	1466	21606										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72054863	72054863	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagaaaggaaaacataaaaGaatctagccgttcaagccag	8	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:72054863G>T	ENST00000555818.1	+	2	622	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.E92*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.E92*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	92					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAACATAAAAGAATCTAGCCG	0.473																																																	0													99	107	104					14																	72054863		2203	4300	6503	SO:0001587	stop_gained	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.274G>T	14.37:g.72054863G>T	ENSP00000450832:p.Glu92*		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E92*	ENST00000555818.1	37	c.274	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	44	10.795135	0.99469	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	5.63	5.63	0.86233	.	0.140928	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.1146	20.0499	0.97621	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000351352:E92X	E	+	1	0	SIPA1L1	71124616	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.766000	0.68843	2.798000	0.96311	0.655000	0.94253	GAA	SIPA1L1	-	NULL		0.473	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72054863	1	no_errors	ENST00000555818	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	72054863	G	T	72054863	4	4	131	1	0	0	0	0	0	1	0	0	14359	943	33	3	276	3	SIPA1L1	14	72054863	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	479399	72054863	35294677	1467	21607										
RGS6	9628	genome.wustl.edu	37	chr14	72818871	72818871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccatcagaacagtcaagagCtttctctccaaaatccccag	5	15	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:72818871C>T	ENST00000553530.1	+	3	360	c.153C>T	c.(151-153)agC>agT	p.S51S	RGS6_ENST00000555571.1_Silent_p.S51S|RGS6_ENST00000355512.6_Silent_p.S51S|RGS6_ENST00000406236.4_Silent_p.S51S|RGS6_ENST00000343854.6_Silent_p.S51S|RGS6_ENST00000556437.1_Silent_p.S51S|RGS6_ENST00000404301.2_Silent_p.S51S|RGS6_ENST00000553525.1_Silent_p.S51S|RGS6_ENST00000402788.2_Silent_p.S51S|RGS6_ENST00000407322.4_Silent_p.S51S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	51	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGTCAAGAGCTTTCTCTCCA	0.428																																					Ovarian(143;1926 2468 21071 48641)												0													120	107	111					14																	72818871		2203	4300	6503	SO:0001819	synonymous_variant	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.153C>T	14.37:g.72818871C>T			C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S51	ENST00000553530.1	37	c.153	CCDS9808.1	14																																																																																			RGS6	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.428	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	C			72818871	1	no_errors	ENST00000553525	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72818871	C	T	72818871	2	4	131	1	0	0	0	0	0	0	0	1	13339	796	28	4		4	RGS6	14	72818871	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	764008	72818871	34530669	1468	21608										
PSEN1	5663	genome.wustl.edu	37	chr14	73659433	73659433	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattttggtgtggtgggaatGatttccattcactggaaagg	13	4	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:73659433G>T	ENST00000324501.5	+	7	902	c.630G>T	c.(628-630)atG>atT	p.M210I	PSEN1_ENST00000406768.1_Missense_Mutation_p.M118I|PSEN1_ENST00000357710.4_Missense_Mutation_p.M206I|PSEN1_ENST00000557511.1_Missense_Mutation_p.M210I|PSEN1_ENST00000394164.1_Missense_Mutation_p.M206I|PSEN1_ENST00000344094.3_Missense_Mutation_p.M210I|PSEN1_ENST00000261970.3_Missense_Mutation_p.M210I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	210					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGTGGGAATGATTTCCATTC	0.428																																																	0													178	165	169					14																	73659433		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.630G>T	14.37:g.73659433G>T	ENSP00000326366:p.Met210Ile		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.M210I	ENST00000324501.5	37	c.630	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.189462	0.94923	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	L	0.48986	1.54	0.80722	D	1	P;D	0.65815	0.83;0.995	P;D	0.77004	0.55;0.989	D	0.99873	1.1100	10	0.36615	T	0.2	-26.8684	19.824	0.96608	0.0:0.0:1.0:0.0	.	206;210	P49768-2;P49768	.;PSN1_HUMAN	I	210;206;210;210;206;210;118	ENSP00000326366:M210I;ENSP00000350342:M206I;ENSP00000261970:M210I;ENSP00000339523:M210I;ENSP00000377719:M206I;ENSP00000451429:M210I;ENSP00000385948:M118I	ENSP00000261970:M210I	M	+	3	0	PSEN1	72729186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.695000	0.98691	2.699000	0.92147	0.591000	0.81541	ATG	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22		0.428	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	G			73659433	1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73659433	G	T	73659433	3	4	131	1	0	0	0	0	1	0	0	0	12677	1290	45	3	648	3	PSEN1	14	73659433	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	840562	73659433	33690107	1469	21609										
PSEN1	5663	genome.wustl.edu	37	chr14	73685914	73685914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcttccaatctccatcaccTttgggcttgttttctacttt	4	13	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:73685914T>G	ENST00000324501.5	+	12	1593	c.1321T>G	c.(1321-1323)Ttt>Gtt	p.F441V	PSEN1_ENST00000406768.1_Missense_Mutation_p.F349V|PSEN1_ENST00000357710.4_Missense_Mutation_p.F437V|PSEN1_ENST00000557511.1_Missense_Mutation_p.F383V|PSEN1_ENST00000394164.1_Missense_Mutation_p.F437V|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.F383V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	441	Required for interaction with CTNNB1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTCCATCACCTTTGGGCTTGT	0.393																																																	0													245	237	240					14																	73685914		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1321T>G	14.37:g.73685914T>G	ENSP00000326366:p.Phe441Val		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.F441V	ENST00000324501.5	37	c.1321	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	T	30	5.057401	0.93846	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D	0.99515	-6.03;-6.03;-6.06;-6.03;-6.06;-6.03	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	M	0.93106	3.38	0.80722	D	1	P;D	0.76494	0.949;0.999	D;D	0.91635	0.954;0.999	D	0.97791	1.0238	10	0.87932	D	0	-21.7086	16.6512	0.85203	0.0:0.0:0.0:1.0	.	437;441	P49768-2;P49768	.;PSN1_HUMAN	V	441;437;383;437;383;349	ENSP00000326366:F441V;ENSP00000350342:F437V;ENSP00000261970:F383V;ENSP00000377719:F437V;ENSP00000451429:F383V;ENSP00000385948:F349V	ENSP00000261970:F383V	F	+	1	0	PSEN1	72755667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.959000	0.87885	2.333000	0.79357	0.482000	0.46254	TTT	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22		0.393	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	T			73685914	1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73685914	T	G	73685914	3	3	131	1	0	0	0	0	1	0	0	0	12677	1609	56	5	1359	5	PSEN1	14	73685914	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	26481	73685914	33663626	1470	21610										
COQ6	51004	genome.wustl.edu	37	chr14	74422517	74422517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgtttccaggtgtgggacGcctgctcagaggccctgata	14	10	1	2	rs377529207	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:74422517G>A	ENST00000334571.2	+	4	407	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	COQ6_ENST00000394026.4_Missense_Mutation_p.A98T|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.A123T|COQ6_ENST00000238709.4_Missense_Mutation_p.A48T	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	123					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GGTGTGGGACGCCTGCTCAGA	0.428													G|||	3	0.000599042	0	0	5008	,	,		19232	0		0.001	False		,,,				2504	0.002																0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	172	163	166		367,142	4.6	1	14		166	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COQ6	NM_182476.2,NM_182480.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	123/469,48/394	74422517	1,13005	2203	4300	6503	SO:0001583	missense	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.367G>A	14.37:g.74422517G>A	ENSP00000333946:p.Ala123Thr		B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases	p.A123T	ENST00000334571.2	37	c.367	CCDS9823.1	14	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795111	0.50208	0.0	1.16E-4	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000553462;ENST00000334571;ENST00000556300;ENST00000554153;ENST00000557584;ENST00000554920;ENST00000557205;ENST00000554320;ENST00000555392	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.51	4.6	0.57074	.	0.197339	0.53938	D	0.000055	T	0.51839	0.1698	L	0.58969	1.84	0.58432	D	0.999999	D;P;D;P;B;P;P;B	0.69078	0.976;0.842;0.997;0.855;0.079;0.924;0.868;0.281	P;P;P;B;B;P;P;B	0.53689	0.64;0.502;0.732;0.265;0.044;0.555;0.458;0.07	T	0.52003	-0.8633	10	0.37606	T	0.19	-5.8482	15.4206	0.75009	0.0:0.0:0.856:0.144	.	68;123;68;98;123;48;48;48	B7Z8E9;B7Z357;B7Z262;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;.;.;COQ6_HUMAN;.;.;.	T	98;48;48;48;123;123;68;68;123;68;48;48	ENSP00000377594:A98T;ENSP00000238709:A48T;ENSP00000333946:A123T;ENSP00000451123:A48T	ENSP00000238709:A48T	A	+	1	0	COQ6	73492270	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	7.144000	0.77357	1.505000	0.48720	0.561000	0.74099	GCC	COQ6	-	tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases		0.428	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ6	HGNC	protein_coding	OTTHUMT00000412616.1	G			74422517	1	no_errors	ENST00000334571	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74422517	G	A	74422517	3	1	131	1	0	0	0	0	1	0	0	0	3754	1087	38	2	381	2	COQ6	14	74422517	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	736603	74422517	32927023	1471	21611										
ABCD4	5826	genome.wustl.edu	37	chr14	74764640	74764640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggggcgcctacgggttatCgatgtcatcccgcagcacgt	13	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:74764640C>T	ENST00000356924.4	-	4	561	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.D53N|ABCD4_ENST00000557588.1_Missense_Mutation_p.D140N	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	140	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TACGGGTTATCGATGTCATCC	0.582																																																	0													104	88	93					14																	74764640		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.418G>A	14.37:g.74764640C>T	ENSP00000349396:p.Asp140Asn		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D140N	ENST00000356924.4	37	c.418	CCDS9828.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.776022	0.96922	.	.	ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588	D;D;D	0.94457	-3.43;-3.43;-3.43	5.5	5.5	0.81552	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97887	1.0295	10	0.51188	T	0.08	.	19.3878	0.94565	0.0:1.0:0.0:0.0	.	53;140	F8W7M4;O14678	.;ABCD4_HUMAN	N	140;53;140	ENSP00000349396:D140N;ENSP00000298816:D53N;ENSP00000451993:D140N	ENSP00000298816:D53N	D	-	1	0	ABCD4	73834393	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.723000	0.84788	2.573000	0.86826	0.561000	0.74099	GAT	ABCD4	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.582	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	C	NM_005050		74764640	-1	no_errors	ENST00000356924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74764640	C	T	74764640	3	4	131	1	0	0	0	0	1	0	0	0	63	884	31	1	1466	1	ABCD4	14	74764640	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	342123	74764640	32584900	1472	21612										
PROX2	283571	genome.wustl.edu	37	chr14	75323691	75323691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatctgggaggtaatgcagCggttgaactgtacaaacaag	12	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75323691C>T	ENST00000445876.1	-	4	1420	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	PROX2_ENST00000556084.2_Missense_Mutation_p.R247H|RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Missense_Mutation_p.R474H			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	474			R -> H (found in a patient with mental retardation, seizures, mild hypotonia and no speech). {ECO:0000269|PubMed:23033978}.		multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGTAATGCAGCGGTTGAACTG	0.448																																																	0													136	133	134					14																	75323691		1944	4160	6104	SO:0001583	missense	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1421G>A	14.37:g.75323691C>T	ENSP00000405932:p.Arg474His		C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.R474H	ENST00000445876.1	37	c.1421	CCDS45136.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.279405|5.279405	0.95489|0.95489	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556084|ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.|T;T	.|0.52057	.|0.68;0.68	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73466|0.73466	0.3590|0.3590	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;P	.|0.85130	.|0.997;0.877	T|T	0.76669|0.76669	-0.2874|-0.2874	5|10	.|0.87932	.|D	.|0	.|.	19.7863|19.7863	0.96440|0.96440	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|474;247	.|G3V3G0;Q3B8N5-2	.|.;.	T|H	247|474;474;247;474	.|ENSP00000451223:R474H;ENSP00000405932:R474H	.|ENSP00000374315:R474H	A|R	-|-	1|2	0|0	PROX2|PROX2	74393444|74393444	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.953000|0.953000	0.61014|0.61014	6.094000|6.094000	0.71431|0.71431	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	GCT|CGC	PROX2	-	pfam_Prox1,superfamily_Homeodomain-like		0.448	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		C			75323691	-1	no_errors	ENST00000445876	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75323691	C	T	75323691	3	4	131	1	0	0	0	0	1	0	0	0	12588	768	27	2	365	2	PROX2	14	75323691	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	559051	75323691	32025849	1473	21613										
RPS6KL1	83694	genome.wustl.edu	37	chr14	75377988	75377988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcaggaagatggagtcctcGctcacaaagtacctgagcag	12	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75377988G>A	ENST00000555647.1	-	7	914	c.627C>T	c.(625-627)agC>agT	p.S209S	RPS6KL1_ENST00000358328.4_Silent_p.S209S|RPS6KL1_ENST00000557413.1_Silent_p.S209S|RPS6KL1_ENST00000354625.2_Silent_p.S178S|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TGGAGTCCTCGCTCACAAAGT	0.607																																																	0													117	106	110					14																	75377988		2203	4300	6503	SO:0001819	synonymous_variant	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.627C>T	14.37:g.75377988G>A			A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S209	ENST00000555647.1	37	c.627	CCDS9834.2	14																																																																																			RPS6KL1	-	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		0.607	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	G			75377988	-1	no_errors	ENST00000358328	ensembl	human	known	70_37	silent	SNP	0.718	A	A	75377988	G	A	75377988	2	1	131	1	0	0	0	0	0	0	0	1	13689	1078	38	2		2	RPS6KL1	14	75377988	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	54297	75377988	31971552	1474	21614										
MLH3	27030	genome.wustl.edu	37	chr14	75513429	75513429	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatctttaccggtaactttaGaattattatagggcaatacc	6	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75513429G>T	ENST00000556740.1	-	1	2965	c.2930C>A	c.(2929-2931)tCt>tAt	p.S977Y	MLH3_ENST00000238662.7_Missense_Mutation_p.S977Y|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S977Y|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.S977Y			Q9UHC1	MLH3_HUMAN	mutL homolog 3	977					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGTAACTTTAGAATTATTATA	0.348								Mismatch excision repair (MMR)																																									0													91	103	99					14																	75513429		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2930C>A	14.37:g.75513429G>T	ENSP00000452316:p.Ser977Tyr		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.S977Y	ENST00000556740.1	37	c.2930	CCDS32123.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.281|2.281	-0.364605|-0.364605	0.05103|0.05103	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000553713|ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	.|D;D;D;D	.|0.84146	.|-1.69;-1.74;-1.81;-1.69	5.19|5.19	-1.26|-1.26	0.09376|0.09376	.|.	.|1.214450	.|0.05698	.|N	.|0.593481	D|D	0.85691|0.85691	0.5755|0.5755	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|D;B	.|0.53885	.|0.963;0.046	.|P;B	.|0.53809	.|0.735;0.049	T|T	0.72104|0.72104	-0.4391|-0.4391	5|10	.|0.72032	.|D	.|0.01	0.7676|0.7676	2.1335|2.1335	0.03755|0.03755	0.343:0.1158:0.4222:0.1189|0.343:0.1158:0.4222:0.1189	.|.	.|977;977	.|Q9UHC1-2;Q9UHC1	.|.;MLH3_HUMAN	I|Y	34|977	.|ENSP00000348020:S977Y;ENSP00000238662:S977Y;ENSP00000451540:S977Y;ENSP00000452316:S977Y	.|ENSP00000238662:S977Y	L|S	-|-	1|2	2|0	MLH3|MLH3	74583182|74583182	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.067000|0.067000	0.16453|0.16453	0.382000|0.382000	0.20635|0.20635	-0.321000|-0.321000	0.08627|0.08627	-0.127000|-0.127000	0.14921|0.14921	CTA|TCT	MLH3	-	NULL		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	G	NM_014381		75513429	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75513429	G	T	75513429	3	4	131	1	0	0	0	0	1	0	0	0	9641	942	33	3	1479	3	MLH3	14	75513429	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	135441	75513429	31836111	1475	21615										
MLH3	27030	genome.wustl.edu	37	chr14	75515647	75515647	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtgcttcagagctgatatAgccactaagctcaaactctt	7	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75515647A>C	ENST00000556740.1	-	1	747	c.712T>G	c.(712-714)Tat>Gat	p.Y238D	MLH3_ENST00000238662.7_Missense_Mutation_p.Y238D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.Y238D|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.Y238D			Q9UHC1	MLH3_HUMAN	mutL homolog 3	238					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAGCTGATATAGCCACTAAGC	0.323								Mismatch excision repair (MMR)																																									0													32	34	33					14																	75515647		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.712T>G	14.37:g.75515647A>C	ENSP00000452316:p.Tyr238Asp		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.Y238D	ENST00000556740.1	37	c.712	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651476	0.47362	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.63	5.63	0.86233	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.208429	0.43579	D	0.000559	D	0.92280	0.7551	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.69824	0.925;0.966	D	0.93304	0.6679	10	0.87932	D	0	-7.8778	15.87	0.79108	1.0:0.0:0.0:0.0	.	238;238	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	D	238	ENSP00000348020:Y238D;ENSP00000238662:Y238D;ENSP00000451540:Y238D;ENSP00000452316:Y238D	ENSP00000238662:Y238D	Y	-	1	0	MLH3	74585400	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.746000	0.55127	2.145000	0.66743	0.533000	0.62120	TAT	MLH3	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold		0.323	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	A	NM_014381		75515647	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75515647	A	C	75515647	3	2	131	1	0	0	0	0	1	0	0	0	9641	420	15	5	3697	5	MLH3	14	75515647	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2218	75515647	31833893	1476	21616										
TMEM63C	57156	genome.wustl.edu	37	chr14	77715708	77715708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctttgcacccaccaaactgAacgagcagatccacatggct	7	15	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:77715708A>G	ENST00000298351.4	+	21	2089	c.1945A>G	c.(1945-1947)Aac>Gac	p.N649D		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	649					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCAAACTGAACGAGCAGAT	0.527																																																	0													163	167	166					14																	77715708		2120	4229	6349	SO:0001583	missense	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1945A>G	14.37:g.77715708A>G	ENSP00000298351:p.Asn649Asp		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	pfam_DUF221	p.N649D	ENST00000298351.4	37	c.1945	CCDS45141.1	14	.	.	.	.	.	.	.	.	.	.	A	4.627	0.116599	0.08881	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.25579	1.79	5.26	5.26	0.73747	Domain of unknown function DUF221 (1);	0.209128	0.56097	D	0.000021	T	0.17066	0.0410	N	0.20530	0.585	0.45502	D	0.998462	B	0.02656	0.0	B	0.09377	0.004	T	0.07252	-1.0782	10	0.14252	T	0.57	-28.535	15.1737	0.72894	1.0:0.0:0.0:0.0	.	649	Q9P1W3	TM63C_HUMAN	D	649;219	ENSP00000298351:N649D	ENSP00000298351:N649D	N	+	1	0	TMEM63C	76785461	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	8.832000	0.92079	1.983000	0.57843	0.459000	0.35465	AAC	TMEM63C	-	pfam_DUF221		0.527	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	A			77715708	1	no_errors	ENST00000298351	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77715708	A	G	77715708	3	3	131	1	0	0	0	0	1	0	0	0	16222	246	9	5	2019	5	TMEM63C	14	77715708	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2200061	77715708	29633832	1477	21617										
POMT2	29954	genome.wustl.edu	37	chr14	77751885	77751885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgaccaaatggatgaagcGaattcgacttctcagcactt	9	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:77751885G>A	ENST00000261534.4	-	13	1625	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	475	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGATGAAGCGAATTCGACTT	0.488																																																	0													249	269	262					14																	77751885		2203	4300	6503	SO:0001583	missense	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1423C>T	14.37:g.77751885G>A	ENSP00000261534:p.Arg475Cys		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.R475C	ENST00000261534.4	37	c.1423	CCDS9857.1	14	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835203	0.91117	.	.	ENSG00000009830	ENST00000261534	D	0.88277	-2.36	5.45	5.45	0.79879	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96501	0.9371	10	0.87932	D	0	-18.7994	14.4855	0.67614	0.0:0.0:0.8531:0.1469	.	475	Q9UKY4	POMT2_HUMAN	C	475	ENSP00000261534:R475C	ENSP00000261534:R475C	R	-	1	0	POMT2	76821638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.378000	0.79679	2.716000	0.92895	0.655000	0.94253	CGC	POMT2	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif		0.488	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMT2	HGNC	protein_coding	OTTHUMT00000414155.1	G	NM_013382		77751885	-1	no_errors	ENST00000261534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77751885	G	A	77751885	3	1	131	1	0	0	0	0	1	0	0	0	12270	1058	37	1	865	1	POMT2	14	77751885	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	36177	77751885	29597655	1478	21618										
C14orf174	161394	genome.wustl.edu	37	chr14	77844148	77844148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaggcccctatggatgaaacGcataaagagtcagacctaga	11	9	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:77844148G>A	ENST00000216471.4	+	1	673	c.387G>A	c.(385-387)acG>acA	p.T129T	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	129										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGATGAAACGCATAAAGAGT	0.468																																																	0													125	137	133					14																	77844148		2203	4300	6503	SO:0001819	synonymous_variant	161394			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.387G>A	14.37:g.77844148G>A			Q2M3P3	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T129	ENST00000216471.4	37	c.387	CCDS32126.1	14																																																																																			SAMD15	-	NULL		0.468	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2	G	NM_001010860		77844148	1	no_errors	ENST00000216471	ensembl	human	known	70_37	silent	SNP	0.000	A	A	77844148	G	A	77844148	2	1	131	1	0	0	0	0	0	0	0	1	1763	1074	38	2		2	C14orf174	14	77844148	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	92263	77844148	29505392	1479	21619										
ALKBH1	8846	genome.wustl.edu	37	chr14	78140375	78140375	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagaacaaggctctaccattGaatctctcgggaggacagca	10	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:78140375G>T	ENST00000216489.3	-	6	965	c.950C>A	c.(949-951)tCa>tAa	p.S317*		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	317	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTCTACCATTGAATCTCTCGG	0.567																																																	0													69	66	67					14																	78140375		2203	4300	6503	SO:0001587	stop_gained	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.950C>A	14.37:g.78140375G>T	ENSP00000216489:p.Ser317*		Q8TAU1|Q9ULA7	Nonsense_Mutation	SNP	tigrfam_Alkb	p.S317*	ENST00000216489.3	37	c.950	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826650	0.71143	.	.	ENSG00000100601	ENST00000216489	.	.	.	5.95	5.95	0.96441	.	0.417330	0.26665	N	0.023140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3192	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	317	.	ENSP00000216489:S317X	S	-	2	0	ALKBH1	77210128	0.875000	0.30112	0.090000	0.20809	0.773000	0.43773	3.842000	0.55858	2.824000	0.97209	0.655000	0.94253	TCA	ALKBH1	-	NULL		0.567	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	G	NM_006020		78140375	-1	no_errors	ENST00000216489	ensembl	human	known	70_37	nonsense	SNP	0.328	T	T	78140375	G	T	78140375	4	4	131	1	0	0	0	0	0	1	0	0	526	1294	45	3	223	3	ALKBH1	14	78140375	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	296227	78140375	29209165	1480	21620										
KCNK10	54207	genome.wustl.edu	37	chr14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgggatgaggccttgaagCggccggtgtccagggcagca	17	11	0	2	rs144714447		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	61	60		1220,1235,1235	4.8	1	14	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	407/539,412/544,412/544	88652276	1,13005	2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1220G>A	14.37:g.88652276C>T	ENSP00000343104:p.Arg407His		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.R412H	ENST00000340700.5	37	c.1235	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	KCNK10	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC	KCNK10	-	NULL		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	C	NM_021161		88652276	-1	no_errors	ENST00000312350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88652276	C	T	88652276	3	4	131	1	0	0	0	0	1	0	0	0	8079	768	27	2	400	2	KCNK10	14	88652276	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	10511901	88652276	18697264	1481	21621										
KCNK10	54207	genome.wustl.edu	37	chr14	88729708	88729708	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagaccaccacaaccacaaaGatggcaaccaccgtcttcca	5	16	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:88729708G>T	ENST00000340700.5	-	2	676	c.225C>A	c.(223-225)atC>atA	p.I75I	KCNK10_ENST00000312350.5_Silent_p.I80I|KCNK10_ENST00000319231.5_Silent_p.I80I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	75					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAACCACAAAGATGGCAACCA	0.572																																																	0													118	99	105					14																	88729708		2203	4300	6503	SO:0001819	synonymous_variant	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.225C>A	14.37:g.88729708G>T			B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.I80	ENST00000340700.5	37	c.240	CCDS9880.1	14																																																																																			KCNK10	-	prints_2pore_dom_K_chnl_TASK		0.572	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	G	NM_021161		88729708	-1	no_errors	ENST00000312350	ensembl	human	known	70_37	silent	SNP	1.000	T	T	88729708	G	T	88729708	2	4	131	1	0	0	0	0	0	0	0	1	8079	932	33	3		3	KCNK10	14	88729708	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	77432	88729708	18619832	1482	21622										
RPS6KA5	9252	genome.wustl.edu	37	chr14	91340105	91340105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtacctcaagccagacatTttaagccttttgtttggatc	7	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:91340105T>G	ENST00000261991.3	-	16	2204	c.2031A>C	c.(2029-2031)aaA>aaC	p.K677N	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.K598N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	677	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCCAGACATTTTAAGCCTTT	0.388																																																	0													231	225	227					14																	91340105		2203	4300	6503	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2031A>C	14.37:g.91340105T>G	ENSP00000261991:p.Lys677Asn		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.K677N	ENST00000261991.3	37	c.2031	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576657	0.45902	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.47869	0.83;0.83	5.56	1.94	0.25998	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	N	0.11201	0.11	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.04737	-1.0930	10	0.51188	T	0.08	.	9.455	0.38750	0.0:0.3504:0.0:0.6496	.	677	O75582	KS6A5_HUMAN	N	677;598	ENSP00000261991:K677N;ENSP00000442803:K598N	ENSP00000261991:K677N	K	-	3	2	RPS6KA5	90409858	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.217000	0.42880	0.092000	0.17331	-0.256000	0.11100	AAA	RPS6KA5	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.388	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	T	NM_004755		91340105	-1	no_errors	ENST00000261991	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91340105	T	G	91340105	3	3	131	1	0	0	0	0	1	0	0	0	13684	1838	64	5	385	5	RPS6KA5	14	91340105	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2610397	91340105	16009435	1483	21623										
SMEK1	55671	genome.wustl.edu	37	chr14	91952071	91952071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcagaccacacaatcagagTgtcctttggagacataaaag	8	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:91952071T>G	ENST00000554943.1	-	3	317	c.202A>C	c.(202-204)Act>Cct	p.T68P	SMEK1_ENST00000337238.4_Missense_Mutation_p.T68P|SMEK1_ENST00000554684.1_Missense_Mutation_p.T68P|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555462.1_Intron			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	68	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACAATCAGAGTGTCCTTTGGA	0.343																																																	0													76	70	72					14																	91952071		2203	4299	6502	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.202A>C	14.37:g.91952071T>G	ENSP00000450883:p.Thr68Pro		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.T68P	ENST00000554943.1	37	c.202		14	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868636	0.91587	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000557018;ENST00000554511	T;T;T;T;D;D	0.98717	1.03;1.03;1.03;1.03;-5.09;-5.09	5.69	5.69	0.88448	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98626	1.0669	10	0.87932	D	0	-13.5916	15.9487	0.79813	0.0:0.0:0.0:1.0	.	68;68	Q6IN85;Q6IN85-2	P4R3A_HUMAN;.	P	68	ENSP00000450864:T68P;ENSP00000337125:T68P;ENSP00000450883:T68P;ENSP00000452596:T68P;ENSP00000450432:T68P;ENSP00000451939:T68P	ENSP00000337125:T68P	T	-	1	0	SMEK1	91021824	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.040000	0.89188	2.173000	0.68751	0.533000	0.62120	ACT	SMEK1	-	NULL		0.343	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	T	NM_032560		91952071	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91952071	T	G	91952071	3	3	131	1	0	0	0	0	1	0	0	0	14823	1696	59	5	2312	5	SMEK1	14	91952071	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	611966	91952071	15397469	1484	21624										
TC2N	123036	genome.wustl.edu	37	chr14	92258717	92258717	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctattatcgcttacagaaatTtttgaaggtggtgttatatc	8	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:92258717T>G	ENST00000435962.2	-	9	1364	c.1041A>C	c.(1039-1041)aaA>aaC	p.K347N	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.K347N|TC2N_ENST00000360594.5_Missense_Mutation_p.K347N	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	347					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTACAGAAATTTTTGAAGGTG	0.358																																																	0													130	130	130					14																	92258717		2203	4300	6503	SO:0001583	missense	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1041A>C	14.37:g.92258717T>G	ENSP00000387882:p.Lys347Asn			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K347N	ENST00000435962.2	37	c.1041	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618802	0.66787	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556590	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.46	1.76	0.24704	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70278	-0.4916	10	0.30078	T	0.28	-26.4166	6.4447	0.21869	0.0:0.1394:0.1326:0.728	.	347	Q8N9U0	TAC2N_HUMAN	N	347;347;347;99	ENSP00000387882:K347N;ENSP00000343199:K347N;ENSP00000353802:K347N;ENSP00000450922:K99N	ENSP00000343199:K347N	K	-	3	2	TC2N	91328470	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	3.537000	0.53590	0.051000	0.15978	0.455000	0.32223	AAA	TC2N	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.358	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	T	NM_152332		92258717	-1	no_errors	ENST00000340892	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92258717	T	G	92258717	3	3	131	1	0	0	0	0	1	0	0	0	15695	1838	64	5	447	5	TC2N	14	92258717	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	306646	92258717	15090823	1485	21625										
TRIP11	9321	genome.wustl.edu	37	chr14	92471878	92471878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaagcttttcaataaaaatTtctttcttgtttataagttg	4	4	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:92471878T>G	ENST00000267622.4	-	11	2815	c.2442A>C	c.(2440-2442)gaA>gaC	p.E814D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	814					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAATAAAAATTTCTTTCTTGT	0.313			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													67	73	71					14																	92471878		2203	4297	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2442A>C	14.37:g.92471878T>G	ENSP00000267622:p.Glu814Asp		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E814D	ENST00000267622.4	37	c.2442	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.163|3.163	-0.171756|-0.171756	0.06421|0.06421	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04654|.	3.58|.	5.77|5.77	-3.27|-3.27	0.05048|0.05048	.|.	0.339283|.	0.34223|.	N|.	0.004156|.	T|T	0.23926|0.23926	0.0579|0.0579	L|L	0.39397|0.39397	1.21|1.21	0.26757|0.26757	N|N	0.970079|0.970079	B;B|.	0.13594|.	0.005;0.008|.	B;B|.	0.16722|.	0.009;0.016|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|5	0.15499|.	T|.	0.54|.	.|.	1.2708|1.2708	0.02020|0.02020	0.2953:0.359:0.1501:0.1956|0.2953:0.359:0.1501:0.1956	.|.	550;814|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	D|H	814;550|530	ENSP00000267622:E814D|.	ENSP00000267622:E814D|.	E|N	-|-	3|1	2|0	TRIP11|TRIP11	91541631|91541631	0.035000|0.035000	0.19736|0.19736	0.056000|0.056000	0.19401|0.19401	0.569000|0.569000	0.35902|0.35902	0.301000|0.301000	0.19174|0.19174	-0.157000|-0.157000	0.11059|0.11059	0.254000|0.254000	0.18369|0.18369	GAA|AAT	TRIP11	-	NULL		0.313	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	T			92471878	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.150	G	G	92471878	T	G	92471878	3	3	131	1	0	0	0	0	1	0	0	0	16586	1838	64	5	3541	5	TRIP11	14	92471878	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	213161	92471878	14877662	1486	21626										
RIN3	79890	genome.wustl.edu	37	chr14	93118693	93118693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgggagagcacggagcaaggCcaggacacagaggtgaaagc	17	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:93118693C>T	ENST00000216487.7	+	6	1458	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	433	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGGAGCAAGGCCAGGACACAG	0.652																																																	0													80	90	87					14																	93118693		2203	4300	6503	SO:0001819	synonymous_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1299C>T	14.37:g.93118693C>T			Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.G433	ENST00000216487.7	37	c.1299	CCDS32144.1	14																																																																																			RIN3	-	NULL		0.652	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	C			93118693	1	no_errors	ENST00000216487	ensembl	human	known	70_37	silent	SNP	0.046	T	T	93118693	C	T	93118693	2	4	131	1	0	0	0	0	0	0	0	1	13403	726	26	4		4	RIN3	14	93118693	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	646815	93118693	14230847	1487	21627										
MOAP1	64112	genome.wustl.edu	37	chr14	93649544	93649544	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgagactcaggtgaaattAccttccaatattgcctggag	9	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:93649544A>C	ENST00000556883.1	-	2	1528	c.1044T>G	c.(1042-1044)ggT>ggG	p.G348G	TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Silent_p.G348G|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	348					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		AGGTGAAATTACCTTCCAATA	0.468																																																	0													97	88	91					14																	93649544		2203	4300	6503	SO:0001819	synonymous_variant	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.1044T>G	14.37:g.93649544A>C			B2RDF6|Q9H833|Q9HAS1	Silent	SNP	NULL	p.G348	ENST00000556883.1	37	c.1044	CCDS9908.1	14																																																																																			MOAP1	-	NULL		0.468	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	A			93649544	-1	no_errors	ENST00000298894	ensembl	human	known	70_37	silent	SNP	0.000	C	C	93649544	A	C	93649544	2	2	131	1	0	0	0	0	0	0	0	1	9703	378	14	5		5	MOAP1	14	93649544	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	530851	93649544	13699996	1488	21628										
DICER1	23405	genome.wustl.edu	37	chr14	95596528	95596528	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catagcaagtcataatgagaAcctaaaataaaatcaacatc	4	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:95596528A>G	ENST00000526495.1	-	7	731	c.440T>C	c.(439-441)gTt>gCt	p.V147A	DICER1_ENST00000343455.3_Splice_Site_p.V147A|DICER1_ENST00000393063.1_Splice_Site_p.V147A|DICER1_ENST00000527414.1_Splice_Site_p.V147A|DICER1_ENST00000541352.1_Splice_Site_p.V147A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATAATGAGAACCTAAAATAA	0.338			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													71	60	64					14																	95596528		2203	4300	6503	SO:0001630	splice_region_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.439-1T>C	14.37:g.95596528A>G			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V147A	ENST00000526495.1	37	c.440	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757892	0.89843	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56195	-0.8019	10	0.66056	D	0.02	-31.6978	16.2096	0.82148	1.0:0.0:0.0:0.0	.	147	Q9UPY3	DICER_HUMAN	A	147	ENSP00000343745:V147A;ENSP00000437256:V147A;ENSP00000376783:V147A;ENSP00000435681:V147A;ENSP00000444719:V147A	ENSP00000343745:V147A	V	-	2	0	DICER1	94666281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.850000	0.92190	2.222000	0.72286	0.528000	0.53228	GTT	DICER1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.338	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	A		Missense_Mutation	95596528	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95596528	A	G	95596528	5	3	131	1	0	0	0	0	0	0	1	0	4531	57	2	5	5420	5	DICER1	14	95596528	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1946984	95596528	11753012	1489	21629										
CLMN	79789	genome.wustl.edu	37	chr14	95669685	95669685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccctcttcctcataatgaggAcgggtggactttctcttggc	10	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:95669685A>G	ENST00000298912.4	-	9	2114	c.2001T>C	c.(1999-2001)cgT>cgC	p.R667R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	667					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATAATGAGGACGGGTGGACT	0.542																																																	0													114	103	107					14																	95669685		2203	4300	6503	SO:0001819	synonymous_variant	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2001T>C	14.37:g.95669685A>G			B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R667	ENST00000298912.4	37	c.2001	CCDS9933.1	14																																																																																			CLMN	-	NULL		0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	A			95669685	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	silent	SNP	0.000	G	G	95669685	A	G	95669685	2	3	131	1	0	0	0	0	0	0	0	1	3547	262	10	5		5	CLMN	14	95669685	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	73157	95669685	11679855	1490	21630										
BEGAIN	57596	genome.wustl.edu	37	chr14	101010247	101010247	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcttctagcagatggctgTtgagggcaacaatctcgtgg	14	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:101010247T>G	ENST00000355173.2	-	5	370	c.299A>C	c.(298-300)aAc>aCc	p.N100T	BEGAIN_ENST00000556751.1_Missense_Mutation_p.N36T|BEGAIN_ENST00000443071.2_Missense_Mutation_p.N100T|BEGAIN_ENST00000554747.1_5'Flank	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	100						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CAGATGGCTGTTGAGGGCAAC	0.617																																					NSCLC(159;1889 2010 9965 27479 40101)												0													167	94	118					14																	101010247		2203	4300	6503	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.299A>C	14.37:g.101010247T>G	ENSP00000347301:p.Asn100Thr		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.N100T	ENST00000355173.2	37	c.299	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	t	5.003	0.186183	0.09495	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356;ENST00000557378;ENST00000554140	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.25	4.25	0.50352	.	0.052686	0.85682	D	0.000000	T	0.50837	0.1639	L	0.31526	0.94	0.58432	D	0.999995	D	0.71674	0.998	D	0.81914	0.995	T	0.41431	-0.9509	10	0.07482	T	0.82	.	13.3575	0.60635	0.0:0.0:0.0:1.0	.	100	Q9BUH8	BEGIN_HUMAN	T	100;36;100;112;100;36;100;119	ENSP00000347301:N100T;ENSP00000451380:N36T;ENSP00000411124:N100T;ENSP00000451397:N112T;ENSP00000452157:N100T;ENSP00000452607:N36T;ENSP00000450722:N100T;ENSP00000451125:N119T	ENSP00000347301:N100T	N	-	2	0	BEGAIN	100080000	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.642000	0.83385	1.549000	0.49425	0.375000	0.23000	AAC	BEGAIN	-	NULL		0.617	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	T	NM_020836		101010247	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101010247	T	G	101010247	3	3	131	1	0	0	0	0	1	0	0	0	1398	1725	60	5	1494	5	BEGAIN	14	101010247	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5340562	101010247	6339293	1491	21631										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102477085	102477085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctccccgtagattctgatAcagagcgtctgtgagacgat	10	11	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:102477085A>G	ENST00000360184.4	+	32	6578	c.6414A>G	c.(6412-6414)atA>atG	p.I2138M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2138					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATTCTGATACAGAGCGTCT	0.587																																																	0													62	59	60					14																	102477085		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6414A>G	14.37:g.102477085A>G	ENSP00000348965:p.Ile2138Met		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.I2138M	ENST00000360184.4	37	c.6414	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626410	0.66901	.	.	ENSG00000197102	ENST00000360184	T	0.28255	1.62	5.62	-11.2	0.00127	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.56124	1.755	0.58432	D	0.999999	D	0.71674	0.998	D	0.68483	0.958	T	0.80390	-0.1402	10	0.02654	T	1	.	20.9779	0.99942	0.089:0.784:0.0:0.1271	.	2138	Q14204	DYHC1_HUMAN	M	2138	ENSP00000348965:I2138M	ENSP00000348965:I2138M	I	+	3	3	DYNC1H1	101546838	0.654000	0.27367	0.679000	0.29978	0.462000	0.32619	-0.090000	0.11163	-2.181000	0.00765	-0.313000	0.08912	ATA	DYNC1H1	-	NULL		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	A	NM_001376		102477085	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	0.827	G	G	102477085	A	G	102477085	3	3	131	1	0	0	0	0	1	0	0	0	4851	381	14	5	6540	5	DYNC1H1	14	102477085	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1466838	102477085	4872455	1492	21632										
AHNAK2	113146	genome.wustl.edu	37	chr14	105412935	105412935	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaccatccagctttgctctCggggcctcgacgtccacctc	9	18	1	0	rs548525077	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:105412935C>T	ENST00000333244.5	-	7	8972	c.8853G>A	c.(8851-8853)ccG>ccA	p.P2951P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2951						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTTGCTCTCGGGGCCTCGA	0.622													.|||	3	0.000599042	0.0015	0	5008	,	,		18819	0		0	False		,,,				2504	0.001																0													168	181	177					14																	105412935		2002	4175	6177	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8853G>A	14.37:g.105412935C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P2951	ENST00000333244.5	37	c.8853	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105412935	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.000	T	T	105412935	C	T	105412935	2	4	131	1	0	0	0	0	0	0	0	1	415	871	31	1		1	AHNAK2	14	105412935	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2935850	105412935	1936605	1493	21633										
GPR132	29933	genome.wustl.edu	37	chr14	105518019	105518019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggtcctccggcggcggcggCcccgactctccagcgcgtac	14	19	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:105518019C>T	ENST00000329797.3	-	4	1366	c.455G>A	c.(454-456)gGc>gAc	p.G152D	GPR132_ENST00000392585.2_Missense_Mutation_p.G143D|GPR132_ENST00000539291.2_Missense_Mutation_p.G152D|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	152	Poly-Arg.				G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCGGCGGCGGCCCCGACTCTC	0.617																																																	0													66	62	63					14																	105518019		2203	4300	6503	SO:0001583	missense	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.455G>A	14.37:g.105518019C>T	ENSP00000328818:p.Gly152Asp		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.G152D	ENST00000329797.3	37	c.455	CCDS9997.1	14	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513439	0.44660	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37058	1.22;1.22;1.22	4.97	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.471455	0.21876	N	0.067803	T	0.55862	0.1947	M	0.75447	2.3	0.23325	N	0.997909	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.53158	-0.8478	10	0.12766	T	0.61	.	14.089	0.64977	0.0:0.848:0.152:0.0	.	143;152	B4E144;Q9UNW8	.;GP132_HUMAN	D	152;143;152	ENSP00000328818:G152D;ENSP00000376364:G143D;ENSP00000438094:G152D	ENSP00000328818:G152D	G	-	2	0	GPR132	104589064	0.974000	0.33945	0.055000	0.19348	0.096000	0.18686	3.071000	0.50041	1.018000	0.39521	0.563000	0.77884	GGC	GPR132	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt		0.617	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	HGNC	protein_coding	OTTHUMT00000409278.1	C	NM_013345		105518019	-1	no_errors	ENST00000329797	ensembl	human	known	70_37	missense	SNP	0.230	T	T	105518019	C	T	105518019	3	4	131	1	0	0	0	0	1	0	0	0	6661	739	26	4	691	4	GPR132	14	105518019	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	105084	105518019	1831521	1494	21634										
BRF1	2972	genome.wustl.edu	37	chr14	105693049	105693049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccaggtcgatcttcatgaaCtcatcaatggtcaactgact	7	11	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:105693049C>A	ENST00000546474.1	-	8	15796	c.837G>T	c.(835-837)gaG>gaT	p.E279D	BRF1_ENST00000551787.1_Missense_Mutation_p.E75D|BRF1_ENST00000392557.4_Missense_Mutation_p.E75D|BRF1_ENST00000379937.2_Missense_Mutation_p.E252D|BRF1_ENST00000440513.3_Missense_Mutation_p.E164D|BRF1_ENST00000446501.2_Missense_Mutation_p.E41D|BRF1_ENST00000379932.4_Missense_Mutation_p.E75D|BRF1_ENST00000327359.3_Missense_Mutation_p.E164D	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	279					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCTTCATGAACTCATCAATGG	0.562																																																	0													74	71	72					14																	105693049		2203	4300	6503	SO:0001583	missense	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.837G>T	14.37:g.105693049C>A	ENSP00000448323:p.Glu279Asp		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.E279D	ENST00000546474.1	37	c.837	CCDS10001.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.506293|3.506293	0.64410|0.64410	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127|ENST00000546417	.|.	.|.	.|.	5.07|5.07	2.89|2.89	0.33648|0.33648	Cyclin-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58892|0.58892	0.2154|0.2154	L|L	0.60845|0.60845	1.875|1.875	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.71674|.	0.969;0.997;0.998|.	D;D;D|.	0.69824|.	0.943;0.966;0.925|.	T|T	0.55673|0.55673	-0.8104|-0.8104	9|5	0.72032|.	D|.	0.01|.	.|.	7.3089|7.3089	0.26463|0.26463	0.0:0.7024:0.0:0.2976|0.0:0.7024:0.0:0.2976	.|.	164;252;279|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	D|F	75;252;279;41;75;75;75;164;164;75;75|133	.|.	ENSP00000329029:E164D|.	E|V	-|-	3|1	2|0	BRF1|BRF1	104764094|104764094	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	0.665000|0.665000	0.25083|0.25083	1.155000|1.155000	0.42497|0.42497	0.555000|0.555000	0.69702|0.69702	GAG|GTT	BRF1	-	superfamily_Cyclin-like		0.562	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	C	NM_001519		105693049	-1	no_errors	ENST00000546474	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105693049	C	A	105693049	3	1	131	1	0	0	0	0	1	0	0	0	1513	564	20	4	1240	4	BRF1	14	105693049	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	175030	105693049	1656491	1495	21635										
OR4N4	283694	genome.wustl.edu	37	chr15	22382811	22382811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttggaggaggggagggattActccttgttgtgatggcctt	16	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:22382811A>G	ENST00000328795.4	+	1	430	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGGAGGGATTACTCCTTGTTG	0.507																																																	0													82	75	77					15																	22382811		2195	4262	6457	SO:0001819	synonymous_variant	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.339A>G	15.37:g.22382811A>G			Q6IEY3|Q6IF56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L113	ENST00000328795.4	37	c.339	CCDS32173.1	15																																																																																			OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	A			22382811	1	no_errors	ENST00000328795	ensembl	human	known	70_37	silent	SNP	0.001	G	G	22382811	A	G	22382811	2	3	131	1	0	0	0	0	0	0	0	1	11102	388	14	5		5	OR4N4	15	22382811	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09		22382811	80148581	1496	21636										
TUBGCP5	114791	genome.wustl.edu	37	chr15	22848316	22848316	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgagaaacaatattatagtAactcatttaacacatgtaag	6	5	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:22848316A>C	ENST00000283645.4	+	9	1036	c.906A>C	c.(904-906)gtA>gtC	p.V302V	TUBGCP5_ENST00000453949.2_Silent_p.V302V	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	302					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATATTATAGTAACTCATTTAA	0.239																																																	0													74	84	80					15																	22848316		2201	4295	6496	SO:0001819	synonymous_variant	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.906A>C	15.37:g.22848316A>C			E9PB12|Q6IQ52|Q96PY8	Silent	SNP	pfam_Spc97_Spc98	p.V302	ENST00000283645.4	37	c.906	CCDS10008.1	15																																																																																			TUBGCP5	-	pfam_Spc97_Spc98		0.239	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	A	NM_052903		22848316	1	no_errors	ENST00000283645	ensembl	human	known	70_37	silent	SNP	1.000	C	C	22848316	A	C	22848316	2	2	131	1	0	0	0	0	0	0	0	1	16800	349	13	5		5	TUBGCP5	15	22848316	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	465505	22848316	79683076	1497	21637										
C15orf2	23742	genome.wustl.edu	37	chr15	24923533	24923533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtcatcttgcagtctacctTtgtctccaggaaggaggagt	11	9	4	0	rs370596656		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:24923533T>C	ENST00000329468.2	+	1	2993	c.2519T>C	c.(2518-2520)tTt>tCt	p.F840S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	840					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGTCTACCTTTGTCTCCAGG	0.512																																																	0													114	104	107					15																	24923533		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2519T>C	15.37:g.24923533T>C	ENSP00000333735:p.Phe840Ser			Missense_Mutation	SNP	NULL	p.F840S	ENST00000329468.2	37	c.2519	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	1.752	-0.489036	0.04352	.	.	ENSG00000185823	ENST00000329468	T	0.06608	3.28	1.83	-3.67	0.04476	.	.	.	.	.	T	0.02267	0.0070	N	0.22421	0.69	0.09310	N	1	B	0.33528	0.416	B	0.22152	0.038	T	0.44559	-0.9320	9	0.07644	T	0.81	.	0.3715	0.00380	0.1954:0.2985:0.1955:0.3106	.	840	Q9NZP6	CO002_HUMAN	S	840	ENSP00000333735:F840S	ENSP00000333735:F840S	F	+	2	0	C15orf2	22474626	0.004000	0.15560	0.000000	0.03702	0.050000	0.14768	-0.192000	0.09587	-1.454000	0.01926	-0.526000	0.04340	TTT	NPAP1	-	NULL		0.512	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	T	NM_018958		24923533	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	C	C	24923533	T	C	24923533	3	2	131	1	0	0	0	0	1	0	0	0	1788	1841	64	5	2521	5	C15orf2	15	24923533	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2075217	24923533	77607859	1498	21638										
ATP10A	57194	genome.wustl.edu	37	chr15	25924953	25924953	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggacaggggcacagaggtCttgactgtcctccctgatga	14	10	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:25924953C>A	ENST00000356865.6	-	21	4146	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1345					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCACAGAGGTCTTGACTGTCC	0.632																																																	0													71	68	69					15																	25924953		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4035G>T	15.37:g.25924953C>A	ENSP00000349325:p.Lys1345Asn		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.K1345N	ENST00000356865.6	37	c.4035	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412519	0.04799	.	.	ENSG00000206190	ENST00000356865	T	0.39592	1.07	5.14	-10.3	0.00346	.	6.408110	0.00166	N	0.000001	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	10	0.17832	T	0.49	2.5288	1.9812	0.03426	0.3113:0.3406:0.0769:0.2712	.	1345	O60312	AT10A_HUMAN	N	1345	ENSP00000349325:K1345N	ENSP00000349325:K1345N	K	-	3	2	ATP10A	23476046	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-4.444000	0.00048	-0.238000	0.12139	AAG	ATP10A	-	NULL		0.632	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	C	NM_024490		25924953	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25924953	C	A	25924953	3	1	131	1	0	0	0	0	1	0	0	0	1117	912	32	3	468	3	ATP10A	15	25924953	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1001420	25924953	76606439	1499	21639										
GABRB3	2562	genome.wustl.edu	37	chr15	26812812	26812812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatcagtatagagggcatatAagtctgaagaatgaagtatc	10	4	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:26812812A>C	ENST00000311550.5	-	7	862	c.751T>G	c.(751-753)Tat>Gat	p.Y251D	GABRB3_ENST00000541819.2_Missense_Mutation_p.Y307D|GABRB3_ENST00000545868.1_Missense_Mutation_p.Y166D|GABRB3_ENST00000400188.3_Missense_Mutation_p.Y180D|GABRB3_ENST00000299267.4_Missense_Mutation_p.Y251D	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	251					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGGCATATAAGTCTGAAGA	0.433																																																	0													134	113	120					15																	26812812		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.751T>G	15.37:g.26812812A>C	ENSP00000308725:p.Tyr251Asp		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y251D	ENST00000311550.5	37	c.751	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781359	0.70222	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97757	1.0218	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	307;251;251	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	D	251;307;251;180;166	ENSP00000308725:Y251D;ENSP00000442408:Y307D;ENSP00000299267:Y251D;ENSP00000383049:Y180D;ENSP00000439169:Y166D	ENSP00000299267:Y251D	Y	-	1	0	GABRB3	24363905	1.000000	0.71417	0.946000	0.38457	0.438000	0.31896	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	TAT	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.433	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	A			26812812	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	missense	SNP	0.999	C	C	26812812	A	C	26812812	3	2	131	1	0	0	0	0	1	0	0	0	6186	362	13	5	682	5	GABRB3	15	26812812	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	887859	26812812	75718580	1500	21640										
GABRG3	2567	genome.wustl.edu	37	chr15	27572007	27572007	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggacagatagtcgccttCgattcaacagcacaatgaaa	8	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:27572007C>T	ENST00000333743.6	+	4	576	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GABRG3_ENST00000555083.1_Nonsense_Mutation_p.R108*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	108					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAGTCGCCTTCGATTCAACAG	0.423																																					NSCLC(114;800 1656 7410 37729 45293)												0													152	151	152					15																	27572007		1972	4183	6155	SO:0001587	stop_gained	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.322C>T	15.37:g.27572007C>T	ENSP00000331912:p.Arg108*		G3V594|Q9HD46|Q9NYT2	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R108*	ENST00000333743.6	37	c.322	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.731740	0.96856	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	.	.	.	5.75	4.83	0.62350	.	0.058025	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	13.1095	0.59265	0.2916:0.7084:0.0:0.0	.	.	.	.	X	108;108;50	.	ENSP00000331912:R108X	R	+	1	2	GABRG3	25154753	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	3.862000	0.56009	1.420000	0.47138	0.650000	0.86243	CGA	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	C			27572007	1	no_errors	ENST00000333743	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27572007	C	T	27572007	4	4	131	1	0	0	0	0	0	1	0	0	6191	876	31	1	336	1	GABRG3	15	27572007	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	759195	27572007	74959385	1501	21641										
HERC2	8924	genome.wustl.edu	37	chr15	28436121	28436121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctacttacctctgtgcagTcattcagaaggggcactgtg	11	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:28436121T>C	ENST00000261609.7	-	55	8747	c.8639A>G	c.(8638-8640)gAc>gGc	p.D2880G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTGTGCAGTCATTCAGAAG	0.408																																																	0													117	111	113					15																	28436121		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8639A>G	15.37:g.28436121T>C	ENSP00000261609:p.Asp2880Gly			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.D2880G	ENST00000261609.7	37	c.8639	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831174	0.91036	.	.	ENSG00000128731	ENST00000261609	T	0.65549	-0.16	5.76	5.76	0.90799	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.103369	0.64402	D	0.000006	T	0.74951	0.3784	L	0.50333	1.59	0.80722	D	1	P;D	0.69078	0.826;0.997	B;D	0.79108	0.294;0.992	T	0.76473	-0.2946	10	0.62326	D	0.03	.	16.3611	0.83269	0.0:0.0:0.0:1.0	.	347;2880	A8KAQ8;O95714	.;HERC2_HUMAN	G	2880	ENSP00000261609:D2880G	ENSP00000261609:D2880G	D	-	2	0	HERC2	26109716	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.431000	0.80335	2.319000	0.78375	0.523000	0.50628	GAC	HERC2	-	superfamily_Galactose-bd-like		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28436121	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28436121	T	C	28436121	3	2	131	1	0	0	0	0	1	0	0	0	7078	1667	58	5	6021	5	HERC2	15	28436121	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	864114	28436121	74095271	1502	21642										
MTMR15	22909	genome.wustl.edu	37	chr15	31197563	31197563	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcctgaacatatggtaagaGgaagtaaaataatggaagcc	10	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:31197563G>T	ENST00000362065.4	+	2	988	c.697G>T	c.(697-699)Gga>Tga	p.G233*	FAN1_ENST00000565466.1_Nonsense_Mutation_p.G233*|FAN1_ENST00000561594.1_Nonsense_Mutation_p.G233*|FAN1_ENST00000561607.1_Nonsense_Mutation_p.G233*	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	233			G -> E (in dbSNP:rs4779794). {ECO:0000269|PubMed:15489334}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TATGGTAAGAGGAAGTAAAAT	0.408								Direct reversal of damage																																									0													53	52	52					15																	31197563		2202	4300	6502	SO:0001587	stop_gained	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.697G>T	15.37:g.31197563G>T	ENSP00000354497:p.Gly233*		A8K4M2|Q86WU8	Nonsense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.G233*	ENST00000362065.4	37	c.697	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.271187	0.95429	.	.	ENSG00000198690	ENST00000362065	.	.	.	5.18	-0.875	0.10628	.	1.092420	0.06802	N	0.788905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-2.2897	8.9237	0.35628	0.5012:0.0:0.4988:0.0	.	.	.	.	X	233	.	ENSP00000354497:G233X	G	+	1	0	FAN1	28984855	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.658000	0.24979	-0.113000	0.11958	-0.140000	0.14226	GGA	FAN1	-	NULL		0.408	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31197563	1	no_errors	ENST00000362065	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	31197563	G	T	31197563	4	4	131	1	0	0	0	0	0	1	0	0	9966	1001	35	4	699	4	MTMR15	15	31197563	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2761442	31197563	71333829	1503	21643										
TRPM1	4308	genome.wustl.edu	37	chr15	31332543	31332543	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactccaaagcaagctggccGaagtctctggggggaaagag	14	9	1	1	rs376395058		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:31332543G>A	ENST00000256552.6	-	18	2241	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	TRPM1_ENST00000397795.2_Silent_p.F676F|TRPM1_ENST00000542188.1_Silent_p.F715F|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAAGCTGGCCGAAGTCTCTGG	0.522																																																	0													52	51	51					15																	31332543		1992	4178	6170	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2094C>T	15.37:g.31332543G>A				Silent	SNP	pfam_Ion_trans_dom	p.F715	ENST00000256552.6	37	c.2145	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.522	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31332543	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	0.998	A	A	31332543	G	A	31332543	2	1	131	1	0	0	0	0	0	0	0	1	16616	1049	37	1		1	TRPM1	15	31332543	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	134980	31332543	71198849	1504	21644										
ARHGAP11A	9824	genome.wustl.edu	37	chr15	32929146	32929146	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagtgatgaagaaataaaGaaacagcagtccccaaagga	9	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:32929146G>T	ENST00000361627.3	+	12	2894	c.2172G>T	c.(2170-2172)aaG>aaT	p.K724N	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K535N|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K535N	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	724					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAGAAATAAAGAAACAGCAGT	0.338																																					Colon(45;757 1134 30003 36652)												0													27	30	29					15																	32929146		2201	4292	6493	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2172G>T	15.37:g.32929146G>T	ENSP00000355090:p.Lys724Asn		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K724N	ENST00000361627.3	37	c.2172	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	1.469	-0.560383	0.03939	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.09630	2.96	5.01	1.65	0.23941	.	0.774053	0.11887	N	0.519987	T	0.07908	0.0198	L	0.39633	1.23	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40924	-0.9537	10	0.17832	T	0.49	.	5.7493	0.18138	0.2586:0.0:0.5967:0.1447	.	724	Q6P4F7	RHGBA_HUMAN	N	724;535	ENSP00000355090:K724N	ENSP00000355090:K724N	K	+	3	2	ARHGAP11A	30716438	0.000000	0.05858	0.001000	0.08648	0.538000	0.34931	0.301000	0.19174	0.599000	0.29845	0.650000	0.86243	AAG	ARHGAP11A	-	NULL		0.338	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	G	NM_014783		32929146	1	no_errors	ENST00000361627	ensembl	human	known	70_37	missense	SNP	0.003	T	T	32929146	G	T	32929146	3	4	131	1	0	0	0	0	1	0	0	0	863	933	33	3	2241	3	ARHGAP11A	15	32929146	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1596603	32929146	69602246	1505	21645										
RYR3	6263	genome.wustl.edu	37	chr15	33944986	33944986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagttcccagagatcaaatCggagcaacgtggacctggag	12	11	1	1	rs367755953		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:33944986C>T	ENST00000389232.4	+	32	4280	c.4210C>T	c.(4210-4212)Cgg>Tgg	p.R1404W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1404W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1404	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGATCAAATCGGAGCAACGT	0.537																																																	0								C	TRP/ARG	1,4055		0,1,2027	105	107	107		4210	5.5	1	15		107	0,8406		0,0,4203	no	missense	RYR3	NM_001036.3	101	0,1,6230	TT,TC,CC		0.0,0.0247,0.0080	probably-damaging	1404/4871	33944986	1,12461	2028	4203	6231	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4210C>T	15.37:g.33944986C>T	ENSP00000373884:p.Arg1404Trp		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R1404W	ENST00000389232.4	37	c.4210	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680736	0.88542	2.47E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96940	-4.18;-4.18	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.975;0.997	D	0.97267	0.9908	10	0.66056	D	0.02	.	15.1593	0.72771	0.0:0.8595:0.1404:0.0	.	1404;1404	Q15413-2;Q15413	.;RYR3_HUMAN	W	1404	ENSP00000373884:R1404W;ENSP00000399610:R1404W	ENSP00000354735:R1404W	R	+	1	2	RYR3	31732278	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.730000	0.62015	2.866000	0.98385	0.650000	0.86243	CGG	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33944986	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33944986	C	T	33944986	3	4	131	1	0	0	0	0	1	0	0	0	13800	875	31	1	4336	1	RYR3	15	33944986	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1015840	33944986	68586406	1506	21646										
LPCAT4	254531	genome.wustl.edu	37	chr15	34654791	34654791	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cactgtgccatgaccctctgAacattgttggcatagagggt	11	10	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:34654791A>C	ENST00000314891.6	-	9	1044	c.867T>G	c.(865-867)gtT>gtG	p.V289V	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	289					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGACCCTCTGAACATTGTTGG	0.547																																																	0													67	64	65					15																	34654791		2201	4298	6499	SO:0001819	synonymous_variant	254531			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.867T>G	15.37:g.34654791A>C			A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.V289	ENST00000314891.6	37	c.867	CCDS32191.1	15																																																																																			LPCAT4	-	NULL		0.547	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	A	NM_153613		34654791	-1	no_errors	ENST00000314891	ensembl	human	known	70_37	silent	SNP	1.000	C	C	34654791	A	C	34654791	2	2	131	1	0	0	0	0	0	0	0	1	8936	233	9	5		5	LPCAT4	15	34654791	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	709805	34654791	67876601	1507	21647										
ACTC1	70	genome.wustl.edu	37	chr15	35086895	35086895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttacctggtgccgcgggcGgcccacgatggacgggaaga	17	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:35086895G>A	ENST00000290378.4	-	2	770	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	39					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCCGCGGGCGGCCCACGATG	0.677																																																	0													20	24	23					15																	35086895		2190	4286	6476	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.115C>T	15.37:g.35086895G>A	ENSP00000290378:p.Arg39Cys		P04270	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R39C	ENST00000290378.4	37	c.115	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378011	0.61735	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92149	-2.98	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000043	D	0.96420	0.8832	M	0.88640	2.97	0.80722	D	1	D	0.62365	0.991	D	0.68483	0.958	D	0.97496	1.0057	10	0.87932	D	0	.	16.9537	0.86252	0.0:0.0:1.0:0.0	.	39	P68032	ACTC_HUMAN	C	39	ENSP00000290378:R39C	ENSP00000290378:R39C	R	-	1	0	ACTC1	32874187	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.855000	0.99526	2.064000	0.61679	0.561000	0.74099	CGC	ACTC1	-	pfam_Actin-like,smart_Actin-like		0.677	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	G	NM_005159		35086895	-1	no_errors	ENST00000290378	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35086895	G	A	35086895	3	1	131	1	0	0	0	0	1	0	0	0	195	1116	39	2	1042	2	ACTC1	15	35086895	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	432104	35086895	67444497	1508	21648										
AQR	9716	genome.wustl.edu	37	chr15	35176741	35176741	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttacctcaagctgcgtaaaGattttcttaatatgcctgaa	6	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:35176741G>T	ENST00000156471.5	-	26	3237	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1004					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCTGCGTAAAGATTTTCTTAA	0.313																																																	0													68	64	65					15																	35176741		1825	4085	5910	SO:0001819	synonymous_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3012C>A	15.37:g.35176741G>T			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	NULL	p.I1004	ENST00000156471.5	37	c.3012	CCDS42013.1	15																																																																																			AQR	-	NULL		0.313	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35176741	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35176741	G	T	35176741	2	4	131	1	0	0	0	0	0	0	0	1	835	932	33	3		3	AQR	15	35176741	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	89846	35176741	67354651	1509	21649										
MEIS2	4212	genome.wustl.edu	37	chr15	37388629	37388629	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaacagaggaaacaacgggTgcctaacgggcagcgccacg	13	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:37388629T>G	ENST00000561208.1	-	3	666	c.248A>C	c.(247-249)cAc>cCc	p.H83P	MEIS2_ENST00000338564.5_Missense_Mutation_p.H83P|MEIS2_ENST00000424352.2_Missense_Mutation_p.H83P|MEIS2_ENST00000444725.1_Missense_Mutation_p.H83P|MEIS2_ENST00000397620.2_Intron|MEIS2_ENST00000340545.5_Missense_Mutation_p.H70P|MEIS2_ENST00000559561.1_Missense_Mutation_p.H83P|MEIS2_ENST00000559085.1_Missense_Mutation_p.H70P|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000557796.2_Missense_Mutation_p.H70P|MEIS2_ENST00000382766.2_Missense_Mutation_p.H83P|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000397624.3_Intron			O14770	MEIS2_HUMAN	Meis homeobox 2	83	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AAACAACGGGTGCCTAACGGG	0.597																																																	0													55	55	55					15																	37388629		2201	4297	6498	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.248A>C	15.37:g.37388629T>G	ENSP00000453793:p.His83Pro		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H83P	ENST00000561208.1	37	c.248	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789800	0.90367	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.33654	1.48;1.4;1.4;1.48;1.48;1.48	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.999;0.999	T	0.73030	-0.4111	10	0.87932	D	0	-7.3499	15.8581	0.79000	0.0:0.0:0.0:1.0	.	70;83;83;83;83;70	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	P	83;83;83;83;83;70;70	ENSP00000326296:H83P;ENSP00000341400:H83P;ENSP00000372216:H83P;ENSP00000404185:H83P;ENSP00000391887:H83P;ENSP00000339549:H70P	ENSP00000326296:H83P	H	-	2	0	MEIS2	35175921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.012000	0.88631	2.138000	0.66242	0.528000	0.53228	CAC	MEIS2	-	NULL		0.597	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	T	NM_170677		37388629	-1	no_errors	ENST00000561208	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37388629	T	G	37388629	3	3	131	1	0	0	0	0	1	0	0	0	9491	1696	59	5	1288	5	MEIS2	15	37388629	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2211888	37388629	65142763	1510	21650										
PAK6	56924	genome.wustl.edu	37	chr15	40568273	40568273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcccctgatccagctctaccGaaagcagacctccacctgct	7	18	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40568273G>A	ENST00000542403.2	+	9	2135	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	PAK6_ENST00000441369.1_Missense_Mutation_p.R675Q|PAK6_ENST00000455577.2_Missense_Mutation_p.R630Q|PAK6_ENST00000453867.1_Missense_Mutation_p.R675Q|PAK6_ENST00000260404.4_Missense_Mutation_p.R675Q|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R675Q	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	675					apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCTCTACCGAAAGCAGACC	0.652																																																	0													120	119	120					15																	40568273		2203	4300	6503	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.2024G>A	15.37:g.40568273G>A	ENSP00000439597:p.Arg675Gln		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.R675Q	ENST00000542403.2	37	c.2024	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949436	0.73787	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.75477	-0.94;-0.94;-0.84;-0.94;-0.94	4.48	3.57	0.40892	Protein kinase-like domain (1);	0.114883	0.64402	D	0.000015	T	0.79551	0.4465	L	0.45051	1.395	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	P;D	0.67548	0.671;0.952	T	0.81028	-0.1118	10	0.87932	D	0	.	12.4204	0.55518	0.081:0.0:0.919:0.0	.	675;630	Q9NQU5;G5E9R2	PAK6_HUMAN;.	Q	675;675;630;675;675	ENSP00000406873:R675Q;ENSP00000401153:R675Q;ENSP00000409465:R630Q;ENSP00000260404:R675Q;ENSP00000439597:R675Q	ENSP00000260404:R675Q	R	+	2	0	PAK6	38355565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.631000	0.67812	1.112000	0.41740	0.561000	0.74099	CGA	PAK6	-	superfamily_Kinase-like_dom		0.652	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	G			40568273	1	no_errors	ENST00000260404	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40568273	G	A	40568273	3	1	131	1	0	0	0	0	1	0	0	0	11428	1058	37	1	2054	1	PAK6	15	40568273	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3179644	40568273	61963119	1511	21651										
C15orf52	388115	genome.wustl.edu	37	chr15	40633048	40633048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgggcaccgagagaattccAgagcagcccctggggagcca	15	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40633048A>G	ENST00000559313.1	-	1	120	c.105T>C	c.(103-105)tcT>tcC	p.S35S	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	35							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		AGAGAATTCCAGAGCAGCCCC	0.672																																																	0													11	17	15					15																	40633048		1857	4105	5962	SO:0001819	synonymous_variant	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.105T>C	15.37:g.40633048A>G			B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	NULL	p.S35	ENST00000559313.1	37	c.105	CCDS10055.2	15																																																																																			C15orf52	-	NULL		0.672	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	A	NM_207380		40633048	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	silent	SNP	1.000	G	G	40633048	A	G	40633048	2	3	131	1	0	0	0	0	0	0	0	1	1804	175	7	5		5	C15orf52	15	40633048	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	64775	40633048	61898344	1512	21652										
C15orf52	388115	genome.wustl.edu	37	chr15	40633088	40633088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagtgggaggaaagctggaGccaccggagccgggcctctg	18	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40633088G>A	ENST00000559313.1	-	1	80	c.65C>T	c.(64-66)gCt>gTt	p.A22V	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	22							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAAAGCTGGAGCCACCGGAGC	0.637																																																	0													10	15	14					15																	40633088		1853	4096	5949	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.65C>T	15.37:g.40633088G>A	ENSP00000453969:p.Ala22Val		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.A22V	ENST00000559313.1	37	c.65	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482157	0.84747	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.97	3.0	0.34707	.	1.037100	0.07719	N	0.943290	T	0.30324	0.0761	L	0.29908	0.895	0.27064	N	0.963488	B	0.27882	0.192	B	0.21708	0.036	T	0.26710	-1.0095	9	0.66056	D	0.02	-0.1697	6.0169	0.19608	0.1048:0.2088:0.6864:0.0	.	22	Q6ZUT6	CO052_HUMAN	V	22	.	ENSP00000372135:A22V	A	-	2	0	C15orf52	38420380	1.000000	0.71417	0.897000	0.35233	0.902000	0.53008	3.099000	0.50267	1.330000	0.45394	0.650000	0.86243	GCT	C15orf52	-	NULL		0.637	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	G	NM_207380		40633088	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.927	A	A	40633088	G	A	40633088	3	1	131	1	0	0	0	0	1	0	0	0	1804	971	34	4	1583	4	C15orf52	15	40633088	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	40	40633088	61898304	1513	21653										
RTF1	23168	genome.wustl.edu	37	chr15	41772871	41772871	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaagactacaaaaaacgaCgagggcttatttgagcacac	10	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:41772871C>T	ENST00000389629.4	+	18	2131	c.2119C>T	c.(2119-2121)Cga>Tga	p.R707*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	707					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAAAAACGACGAGGGCTTAT	0.542																																																	0													68	68	68					15																	41772871		2203	4300	6503	SO:0001587	stop_gained	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.2119C>T	15.37:g.41772871C>T	ENSP00000374280:p.Arg707*		Q96BX6	Nonsense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.R707*	ENST00000389629.4	37	c.2119	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	C	35	5.582536	0.96578	.	.	ENSG00000137815	ENST00000389629	.	.	.	4.51	4.51	0.55191	.	0.054671	0.64402	D	0.000001	.	.	.	.	.	.	0.26791	N	0.969406	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8659	11.6484	0.51273	0.177:0.823:0.0:0.0	.	.	.	.	X	707	.	ENSP00000374280:R707X	R	+	1	2	RTF1	39560163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.313000	0.51935	2.352000	0.79861	0.557000	0.71058	CGA	RTF1	-	NULL		0.542	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	C	NM_015138		41772871	1	no_errors	ENST00000389629	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41772871	C	T	41772871	4	4	131	1	0	0	0	0	0	1	0	0	13751	528	19	2	2189	2	RTF1	15	41772871	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1139783	41772871	60758521	1514	21654										
MGA	23269	genome.wustl.edu	37	chr15	42042106	42042106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaataagacagtccaaaatTtaagtaaagtacagcatcaa	6	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42042106T>G	ENST00000570161.1	+	16	6301	c.6301T>G	c.(6301-6303)Tta>Gta	p.L2101V	MGA_ENST00000566586.1_Missense_Mutation_p.L1892V|MGA_ENST00000389936.4_Missense_Mutation_p.L2062V|MGA_ENST00000545763.1_Missense_Mutation_p.L1892V|MGA_ENST00000219905.7_Missense_Mutation_p.L2101V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTCCAAAATTTAAGTAAAGT	0.383																																																	0													72	65	67					15																	42042106		1832	4083	5915	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6301T>G	15.37:g.42042106T>G	ENSP00000457035:p.Leu2101Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L2101V	ENST00000570161.1	37	c.6301	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	T	0	-2.699956	0.00097	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84800	-1.9;-1.84;-1.89	4.23	-3.94	0.04130	.	3.039650	0.01631	N	0.023536	T	0.61862	0.2381	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.64715	-0.6342	10	0.02654	T	1	.	5.2499	0.15517	0.4479:0.0:0.2924:0.2597	.	717;1892;2101;2062	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	V	2101;2062;1892	ENSP00000219905:L2101V;ENSP00000374586:L2062V;ENSP00000442467:L1892V	ENSP00000219905:L2101V	L	+	1	2	MGA	39829398	0.000000	0.05858	0.003000	0.11579	0.668000	0.39293	-0.544000	0.06077	-0.597000	0.05813	-0.878000	0.02970	TTA	MGA	-	NULL		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	T	NM_001164273.1		42042106	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.000	G	G	42042106	T	G	42042106	3	3	131	1	0	0	0	0	1	0	0	0	9563	1838	64	5	6363	5	MGA	15	42042106	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	269235	42042106	60489286	1515	21655										
MGA	23269	genome.wustl.edu	37	chr15	42058580	42058580	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtgaatcaagaggggagaGagtgaagtcaaaggattctt	15	3	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42058580G>T	ENST00000570161.1	+	23	8300	c.8300G>T	c.(8299-8301)aGa>aTa	p.R2767I	MGA_ENST00000566586.1_Missense_Mutation_p.R2558I|MGA_ENST00000389936.4_Missense_Mutation_p.R2728I|MGA_ENST00000545763.1_Missense_Mutation_p.R2558I|MGA_ENST00000219905.7_Missense_Mutation_p.R2767I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGGGGAGAGAGTGAAGTCA	0.368																																																	0													53	49	50					15																	42058580		1846	4080	5926	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8300G>T	15.37:g.42058580G>T	ENSP00000457035:p.Arg2767Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.R2767I	ENST00000570161.1	37	c.8300	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	16.19	3.051919	0.55218	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86769	-2.14;-2.12;-2.17	5.37	4.43	0.53597	.	0.240284	0.29383	N	0.012318	D	0.84602	0.5508	N	0.19112	0.55	0.43994	D	0.996698	P;P	0.48589	0.912;0.857	P;P	0.52343	0.696;0.499	D	0.86509	0.1808	10	0.72032	D	0.01	.	13.3749	0.60732	0.0778:0.0:0.9222:0.0	.	2558;2767	F5H7K2;E7ENI0	.;.	I	2767;2728;2558	ENSP00000219905:R2767I;ENSP00000374586:R2728I;ENSP00000442467:R2558I	ENSP00000219905:R2767I	R	+	2	0	MGA	39845872	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.846000	0.55888	1.430000	0.47334	0.650000	0.86243	AGA	MGA	-	NULL		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42058580	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42058580	G	T	42058580	3	4	131	1	0	0	0	0	1	0	0	0	9563	942	33	3	8390	3	MGA	15	42058580	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	16474	42058580	60472812	1516	21656										
SPTBN5	51332	genome.wustl.edu	37	chr15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatgctgccagtagctgccGcatggcgggcagcgagtctg	16	11	1	0	rs528552734		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637													G|||	1	0.000199681	0	0	5008	,	,		18261	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	prostate(1)											25	29	28					15																	42178429		2001	4186	6187	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1024C>T	15.37:g.42178429G>A	ENSP00000317790:p.Arg342Trp			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R342W	ENST00000320955.6	37	c.1024		15	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	SPTBN5	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42178429	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.996	A	A	42178429	G	A	42178429	3	1	131	1	0	0	0	0	1	0	0	0	15152	1086	38	2	10248	2	SPTBN5	15	42178429	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	119849	42178429	60352963	1517	21657										
VPS39	23339	genome.wustl.edu	37	chr15	42455913	42455913	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgccccaacaggagagctcgTtcttctaagaggcctaggag	12	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42455913T>C	ENST00000348544.4	-	21	2072	c.2073A>G	c.(2071-2073)gaA>gaG	p.E691E	VPS39_ENST00000318006.5_Silent_p.E680E			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	691					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GGAGAGCTCGTTCTTCTAAGA	0.512																																																	0													57	43	48					15																	42455913		2203	4299	6502	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2073A>G	15.37:g.42455913T>C			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.E691	ENST00000348544.4	37	c.2073	CCDS10083.1	15																																																																																			VPS39	-	NULL		0.512	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	T	NM_015289		42455913	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	silent	SNP	0.855	C	C	42455913	T	C	42455913	2	2	131	1	0	0	0	0	0	0	0	1	17240	1722	60	5		5	VPS39	15	42455913	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	277484	42455913	60075479	1518	21658										
VPS39	23339	genome.wustl.edu	37	chr15	42457228	42457228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagatactccttcatcagAccttgcaccttctcacagta	6	13	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42457228A>G	ENST00000348544.4	-	19	1895	c.1896T>C	c.(1894-1896)ggT>ggC	p.G632G	VPS39_ENST00000318006.5_Silent_p.G621G			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	632					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTTCATCAGACCTTGCACCT	0.542																																																	0													180	147	158					15																	42457228		2203	4299	6502	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1896T>C	15.37:g.42457228A>G			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.G632	ENST00000348544.4	37	c.1896	CCDS10083.1	15																																																																																			VPS39	-	NULL		0.542	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	A	NM_015289		42457228	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	silent	SNP	0.217	G	G	42457228	A	G	42457228	2	3	131	1	0	0	0	0	0	0	0	1	17240	262	10	5		5	VPS39	15	42457228	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1315	42457228	60074164	1519	21659										
TTBK2	146057	genome.wustl.edu	37	chr15	43069311	43069311	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagctgtgaatggaacgtaActttcgcaccagtggaatat	10	7	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:43069311A>C	ENST00000267890.6	-	12	1435	c.1327T>G	c.(1327-1329)Tta>Gta	p.L443V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L408V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L443V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	443					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGGAACGTAACTTTCGCACC	0.473																																																	0													90	89	89					15																	43069311		1936	4140	6076	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1327T>G	15.37:g.43069311A>C	ENSP00000267890:p.Leu443Val		O94932|Q6ZN52|Q8IVV1	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.L443V	ENST00000267890.6	37	c.1327	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152674	0.57259	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.52983	0.64	5.75	3.35	0.38373	.	0.072323	0.53938	D	0.000043	T	0.58552	0.2130	L	0.55481	1.735	0.53005	D	0.999962	B;D;P;D	0.64830	0.243;0.994;0.749;0.99	B;D;B;P	0.64321	0.054;0.924;0.228;0.841	T	0.60561	-0.7239	10	0.87932	D	0	.	10.4609	0.44578	0.8071:0.0:0.1929:0.0	.	848;374;443;443	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	V	443;373;848	ENSP00000267890:L443V	ENSP00000263802:L848V	L	-	1	2	TTBK2	40856603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.653000	0.37323	0.962000	0.38057	0.533000	0.62120	TTA	TTBK2	-	NULL		0.473	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	A	NM_173500		43069311	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43069311	A	C	43069311	3	2	131	1	0	0	0	0	1	0	0	0	16708	40	2	5	2423	5	TTBK2	15	43069311	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	612083	43069311	59462081	1520	21660										
TGM7	116179	genome.wustl.edu	37	chr15	43584214	43584214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccaggaggtgatgaatcttTcatgacccttgtaaacaaag	10	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:43584214T>C	ENST00000452443.2	-	4	525	c.521A>G	c.(520-522)gAa>gGa	p.E174G		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	174					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GATGAATCTTTCATGACCCTT	0.502																																																	0													103	87	92					15																	43584214		2201	4299	6500	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.521A>G	15.37:g.43584214T>C	ENSP00000389466:p.Glu174Gly			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E174G	ENST00000452443.2	37	c.521	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189399	0.38707	.	.	ENSG00000159495	ENST00000452443	D	0.88896	-2.44	5.5	4.36	0.52297	.	0.672524	0.15999	N	0.234381	D	0.86070	0.5845	M	0.67397	2.05	0.09310	N	1	B	0.28713	0.22	B	0.25140	0.058	T	0.73509	-0.3960	10	0.25106	T	0.35	-4.0171	10.8446	0.46737	0.0:0.0:0.165:0.835	.	174	Q96PF1	TGM7_HUMAN	G	174	ENSP00000389466:E174G	ENSP00000389466:E174G	E	-	2	0	TGM7	41371506	0.000000	0.05858	0.269000	0.24586	0.955000	0.61496	-0.054000	0.11826	1.007000	0.39238	0.533000	0.62120	GAA	TGM7	-	NULL		0.502	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	T	NM_052955		43584214	-1	no_errors	ENST00000452443	ensembl	human	known	70_37	missense	SNP	0.001	C	C	43584214	T	C	43584214	3	2	131	1	0	0	0	0	1	0	0	0	15865	1783	62	5	1651	5	TGM7	15	43584214	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	514903	43584214	58947178	1521	21661										
TP53BP1	7158	genome.wustl.edu	37	chr15	43705389	43705389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccaacttgtcactggttgTggccatggtaaggagaaatg	14	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:43705389T>C	ENST00000263801.3	-	24	5470	c.5218A>G	c.(5218-5220)Aca>Gca	p.T1740A	TP53BP1_ENST00000382039.3_Missense_Mutation_p.T1695A|TP53BP1_ENST00000382044.4_Missense_Mutation_p.T1745A|TP53BP1_ENST00000450115.2_Missense_Mutation_p.T1743A	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1740	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCACTGGTTGTGGCCATGGTA	0.557								Other conserved DNA damage response genes																																									0													107	87	94					15																	43705389		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5218A>G	15.37:g.43705389T>C	ENSP00000263801:p.Thr1740Ala		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T1745A	ENST00000263801.3	37	c.5233	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750154	0.69533	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	6.03	6.03	0.97812	BRCT (3);	0.176531	0.51477	D	0.000082	D	0.82848	0.5126	L	0.27053	0.805	0.39080	D	0.960891	P;D;D	0.55800	0.954;0.973;0.973	B;P;P	0.50405	0.437;0.64;0.64	T	0.80815	-0.1214	10	0.18276	T	0.48	-10.9738	11.5696	0.50826	0.0:0.0687:0.0:0.9312	.	1740;1745;1743	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	A	1740;1745;1695;1743	ENSP00000263801:T1740A;ENSP00000371475:T1745A;ENSP00000371470:T1695A;ENSP00000393497:T1743A	ENSP00000263801:T1740A	T	-	1	0	TP53BP1	41492681	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	3.876000	0.56115	2.308000	0.77769	0.533000	0.62120	ACA	TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.557	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	T			43705389	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.963	C	C	43705389	T	C	43705389	3	2	131	1	0	0	0	0	1	0	0	0	16414	1696	59	5	720	5	TP53BP1	15	43705389	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	121175	43705389	58826003	1522	21662										
WDR76	79968	genome.wustl.edu	37	chr15	44120351	44120351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgaagtggcgtgtaagaaGactaaaataaagaaaacttg	10	3	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:44120351G>T	ENST00000263795.6	+	2	319	c.249G>T	c.(247-249)aaG>aaT	p.K83N	WDR76_ENST00000381246.2_Missense_Mutation_p.K19N	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	83										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CGTGTAAGAAGACTAAAATAA	0.403																																																	0													73	75	74					15																	44120351		2198	4298	6496	SO:0001583	missense	79968			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.249G>T	15.37:g.44120351G>T	ENSP00000263795:p.Lys83Asn		A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K83N	ENST00000263795.6	37	c.249	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148624	0.37923	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	D;D;T	0.85088	-1.94;-1.88;0.61	4.74	0.0968	0.14491	.	0.114794	0.39146	N	0.001443	T	0.72953	0.3525	L	0.55990	1.75	0.28262	N	0.924807	B	0.33266	0.404	B	0.21708	0.036	T	0.60969	-0.7157	10	0.32370	T	0.25	-7.3038	3.4848	0.07615	0.3161:0.0:0.5094:0.1745	.	83	Q9H967	WDR76_HUMAN	N	83;19;19	ENSP00000263795:K83N;ENSP00000370645:K19N;ENSP00000404665:K19N	ENSP00000263795:K83N	K	+	3	2	WDR76	41907643	0.840000	0.29493	0.697000	0.30258	0.824000	0.46624	0.626000	0.24492	0.234000	0.21139	0.563000	0.77884	AAG	WDR76	-	NULL		0.403	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	G	NM_024908		44120351	1	no_errors	ENST00000263795	ensembl	human	known	70_37	missense	SNP	0.466	T	T	44120351	G	T	44120351	3	4	131	1	0	0	0	0	1	0	0	0	17357	933	33	3	255	3	WDR76	15	44120351	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	414962	44120351	58411041	1523	21663										
SPG11	80208	genome.wustl.edu	37	chr15	44876670	44876670	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attgaatttttcttaaaattCtcatggcattttttccagaa	4	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:44876670C>A	ENST00000261866.7	-	30	5224	c.5208G>T	c.(5206-5208)gaG>gaT	p.E1736D	SPG11_ENST00000535302.2_Missense_Mutation_p.E1736D|SPG11_ENST00000558319.1_Missense_Mutation_p.E1736D|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000427534.2_Missense_Mutation_p.E1736D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1736					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTAAAATTCTCATGGCATT	0.403																																																	0													44	50	48					15																	44876670		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5208G>T	15.37:g.44876670C>A	ENSP00000261866:p.Glu1736Asp		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.E1736D	ENST00000261866.7	37	c.5208	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099418	0.07010	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77620	-1.11;-0.85;-0.85	5.74	1.44	0.22558	.	0.287471	0.34777	N	0.003687	T	0.58481	0.2125	L	0.31120	0.905	0.80722	D	1	B;B;B;B	0.14805	0.001;0.011;0.011;0.011	B;B;B;B	0.18561	0.002;0.008;0.022;0.022	T	0.34129	-0.9841	10	0.14656	T	0.56	.	4.4915	0.11815	0.1134:0.427:0.3274:0.1322	.	1736;1736;1736;1736	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	D	1736	ENSP00000261866:E1736D;ENSP00000445278:E1736D;ENSP00000396110:E1736D	ENSP00000261866:E1736D	E	-	3	2	SPG11	42663962	0.875000	0.30112	1.000000	0.80357	0.296000	0.27459	0.389000	0.20751	0.331000	0.23511	-0.224000	0.12420	GAG	SPG11	-	NULL		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	C			44876670	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	0.833	A	A	44876670	C	A	44876670	3	1	131	1	0	0	0	0	1	0	0	0	15071	912	32	3	2167	3	SPG11	15	44876670	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	756319	44876670	57654722	1524	21664										
TRIM69	140691	genome.wustl.edu	37	chr15	45051031	45051031	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggcaaagacggaacaacaGaactccttcgactttctcaa	7	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:45051031G>T	ENST00000559390.1	+	5	1720	c.792G>T	c.(790-792)caG>caT	p.Q264H	TRIM69_ENST00000560442.1_Missense_Mutation_p.Q60H|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.Q264H|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q105H|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_Missense_Mutation_p.Q60H			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	264					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CGGAACAACAGAACTCCTTCG	0.468																																					Pancreas(84;519 1450 1802 20427 34706)												0													65	55	58					15																	45051031		2198	4298	6496	SO:0001583	missense	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.792G>T	15.37:g.45051031G>T	ENSP00000453177:p.Gln264His		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.Q264H	ENST00000559390.1	37	c.792	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471432	0.26423	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57595	1.07;0.39	5.97	3.59	0.41128	.	0.207707	0.32624	N	0.005852	T	0.31544	0.0800	N	0.19112	0.55	0.29335	N	0.866414	B;B	0.26775	0.159;0.097	B;B	0.20955	0.032;0.025	T	0.09207	-1.0685	10	0.35671	T	0.21	.	7.111	0.25390	0.091:0.2466:0.6624:0.0	.	105;264	Q86WT6-2;Q86WT6	.;TRI69_HUMAN	H	264;105	ENSP00000332284:Q264H;ENSP00000342922:Q105H	ENSP00000332284:Q264H	Q	+	3	2	TRIM69	42838323	0.998000	0.40836	1.000000	0.80357	0.394000	0.30568	0.382000	0.20635	2.835000	0.97688	0.591000	0.81541	CAG	TRIM69	-	NULL		0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	G			45051031	1	no_errors	ENST00000329464	ensembl	human	known	70_37	missense	SNP	0.979	T	T	45051031	G	T	45051031	3	4	131	1	0	0	0	0	1	0	0	0	16573	933	33	3	806	3	TRIM69	15	45051031	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	174361	45051031	57480361	1525	21665										
DUOX1	53905	genome.wustl.edu	37	chr15	45426095	45426095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catttcgtgggaggtgcagcGatttgatgggtggtacaaca	15	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:45426095G>A	ENST00000321429.4	+	4	499	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R31Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	31	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGTGCAGCGATTTGATGGG	0.592																																																	0													153	133	140					15																	45426095		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.92G>A	15.37:g.45426095G>A	ENSP00000317997:p.Arg31Gln		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.R31Q	ENST00000321429.4	37	c.92	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.188148	0.94923	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73363	-0.74;-0.74	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88600	0.3149	10	0.59425	D	0.04	-7.7121	15.7702	0.78162	0.0:0.0:1.0:0.0	.	31	Q9NRD9	DUOX1_HUMAN	Q	31	ENSP00000317997:R31Q;ENSP00000373689:R31Q	ENSP00000317997:R31Q	R	+	2	0	DUOX1	43213387	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.805000	0.75191	2.572000	0.86782	0.655000	0.94253	CGA	DUOX1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	G	NM_017434		45426095	1	no_errors	ENST00000321429	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45426095	G	A	45426095	3	1	131	1	0	0	0	0	1	0	0	0	4810	1058	37	1	98	1	DUOX1	15	45426095	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	375064	45426095	57105297	1526	21666										
SEMA6D	80031	genome.wustl.edu	37	chr15	48058792	48058792	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggctgttaaccgaagacttCtttgctttccataaccacag	7	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:48058792C>A	ENST00000316364.5	+	16	2085				SEMA6D_ENST00000389432.2_Missense_Mutation_p.F555L|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000358066.4_Missense_Mutation_p.F555L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.F555L|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000558014.1_Missense_Mutation_p.F555L|SEMA6D_ENST00000389428.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCGAAGACTTCTTTGCTTTCC	0.433																																																	0													166	138	147					15																	48058792		2198	4297	6495	SO:0001627	intron_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1647-21C>A	15.37:g.48058792C>A			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.F555L	ENST00000316364.5	37	c.1665	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051821	0.08291	.	.	ENSG00000137872	ENST00000537942;ENST00000389432;ENST00000358066	T;T;T	0.15139	2.46;2.45;2.46	5.87	2.89	0.33648	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	9	0.11485	T	0.65	.	13.2026	0.59776	0.0:0.3524:0.5803:0.0673	.	555	Q8NFY4-2	.	L	555	ENSP00000442040:F555L;ENSP00000374083:F555L;ENSP00000350770:F555L	ENSP00000350770:F555L	F	+	3	2	SEMA6D	45846084	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.679000	0.25291	0.358000	0.24211	-0.122000	0.15005	TTC	SEMA6D	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.433	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	C	NM_024966		48058792	1	no_errors	ENST00000389432	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48058792	C	A	48058792	1	1	131	0	1	0	0	0	0	0	0	0	14072	912	32	3		3	SEMA6D	15	48058792	Intron	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2632697	48058792	54472600	1527	21667										
SLC24A5	283652	genome.wustl.edu	37	chr15	48434526	48434526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaattattggaaataataAaataaggggctgtggaggtt	13	1	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:48434526A>C	ENST00000341459.3	+	9	1554	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T	SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	494					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAATAATAAAATAAGGGGC	0.348																																																	0													40	43	42					15																	48434526		2198	4294	6492	SO:0001583	missense	283652			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1481A>C	15.37:g.48434526A>C	ENSP00000341550:p.Lys494Thr		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.K494T	ENST00000341459.3	37	c.1481	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664569	0.29604	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75050	-0.9;-0.88	5.65	3.36	0.38483	.	0.371804	0.33075	N	0.005316	T	0.51787	0.1695	N	0.22421	0.69	0.80722	D	1	P;B	0.34462	0.454;0.201	B;B	0.24541	0.054;0.054	T	0.48670	-0.9015	10	0.37606	T	0.19	.	5.4176	0.16382	0.5359:0.2901:0.174:0.0	.	434;494	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	T	494;434	ENSP00000341550:K494T;ENSP00000389966:K434T	ENSP00000341550:K494T	K	+	2	0	SLC24A5	46221818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.345000	0.52182	1.081000	0.41110	0.528000	0.53228	AAA	SLC24A5	-	NULL		0.348	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	A	NM_205850		48434526	1	no_errors	ENST00000341459	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48434526	A	C	48434526	3	2	131	1	0	0	0	0	1	0	0	0	14499	14	1	5	1515	5	SLC24A5	15	48434526	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	375734	48434526	54096866	1528	21668										
DTWD1	56986	genome.wustl.edu	37	chr15	49917417	49917417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtgaagaaaatagttcaaAatttgtggaaacaaaacagt	8	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:49917417A>C	ENST00000251250.6	+	3	260	c.53A>C	c.(52-54)aAa>aCa	p.K18T	DTWD1_ENST00000403028.3_Missense_Mutation_p.K18T|DTWD1_ENST00000329873.5_Missense_Mutation_p.K18T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Missense_Mutation_p.K18T	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	18										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AATAGTTCAAAATTTGTGGAA	0.333																																																	0													48	47	47					15																	49917417		2196	4293	6489	SO:0001583	missense	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.53A>C	15.37:g.49917417A>C	ENSP00000251250:p.Lys18Thr		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.K18T	ENST00000251250.6	37	c.53	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290899	0.23564	.	.	ENSG00000104047	ENST00000403028;ENST00000329873;ENST00000251250	T;T;T	0.23950	1.92;1.88;1.92	5.09	2.61	0.31194	.	1.440830	0.03713	N	0.250603	T	0.23171	0.0560	L	0.44542	1.39	0.09310	N	0.999997	B	0.13594	0.008	B	0.14578	0.011	T	0.19614	-1.0300	9	.	.	.	-2.0791	5.4347	0.16474	0.5844:0.2652:0.1504:0.0	.	18	Q8N5C7	DTWD1_HUMAN	T	18	ENSP00000385399:K18T;ENSP00000329313:K18T;ENSP00000251250:K18T	.	K	+	2	0	DTWD1	47704709	0.905000	0.30787	0.918000	0.36340	0.648000	0.38561	1.205000	0.32308	0.886000	0.36113	0.482000	0.46254	AAA	DTWD1	-	NULL		0.333	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2	A	NM_020234		49917417	1	no_errors	ENST00000251250	ensembl	human	known	70_37	missense	SNP	0.188	C	C	49917417	A	C	49917417	3	2	131	1	0	0	0	0	1	0	0	0	4801	14	1	5	55	5	DTWD1	15	49917417	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1482891	49917417	52613975	1529	21669										
USP8	9101	genome.wustl.edu	37	chr15	50788052	50788052	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attttatttccaggctgataAtcggaagagatataaagaag	9	4	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:50788052A>C	ENST00000396444.3	+	17	3004	c.2666A>C	c.(2665-2667)aAt>aCt	p.N889T	USP8_ENST00000433963.1_Missense_Mutation_p.N889T|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Missense_Mutation_p.N889T|USP8_ENST00000425032.3_Missense_Mutation_p.N783T|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	889	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAGGCTGATAATCGGAAGAGA	0.308																																																	0													22	22	22					15																	50788052		2196	4263	6459	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2666A>C	15.37:g.50788052A>C	ENSP00000379721:p.Asn889Thr		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.N889T	ENST00000396444.3	37	c.2666	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299358	0.60195	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.23	5.23	0.72850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.054638	0.64402	D	0.000001	T	0.22820	0.0551	N	0.21508	0.67	0.80722	D	1	B;B	0.25007	0.116;0.001	B;B	0.22152	0.038;0.007	T	0.03651	-1.1016	10	0.33141	T	0.24	-28.4628	15.4116	0.74929	1.0:0.0:0.0:0.0	.	783;889	B4DKA8;P40818	.;UBP8_HUMAN	T	889;889;889;783;116;111	ENSP00000379721:N889T;ENSP00000405537:N889T;ENSP00000302239:N889T;ENSP00000412682:N783T	ENSP00000302239:N889T	N	+	2	0	USP8	48575344	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.989000	0.76219	2.099000	0.63709	0.528000	0.53228	AAT	USP8	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.308	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	A	NM_005154		50788052	1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50788052	A	C	50788052	3	2	131	1	0	0	0	0	1	0	0	0	17120	101	4	5	2728	5	USP8	15	50788052	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	870635	50788052	51743340	1530	21670										
GLDN	342035	genome.wustl.edu	37	chr15	51689777	51689777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccctcggcagccaagcatgTtcaacggccagtgcccaggt	12	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:51689777T>C	ENST00000335449.6	+	6	855	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	GLDN_ENST00000396399.2_Missense_Mutation_p.F143L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	267					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GCCAAGCATGTTCAACGGCCA	0.642																																																	0													34	43	40					15																	51689777		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.799T>C	15.37:g.51689777T>C	ENSP00000335196:p.Phe267Leu		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.F267L	ENST00000335449.6	37	c.799	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741251	0.49151	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.93076	-3.16;-3.16	5.17	5.17	0.71159	.	0.000000	0.42964	D	0.000622	D	0.89805	0.6821	L	0.41236	1.265	0.44316	D	0.997192	B	0.13145	0.007	B	0.11329	0.006	D	0.86329	0.1697	10	0.41790	T	0.15	.	14.2026	0.65714	0.0:0.0:0.0:1.0	.	267	Q6ZMI3	GLDN_HUMAN	L	267;143;143	ENSP00000335196:F267L;ENSP00000379681:F143L	ENSP00000335196:F267L	F	+	1	0	GLDN	49477069	0.986000	0.35501	1.000000	0.80357	0.992000	0.81027	1.807000	0.38902	1.950000	0.56595	0.528000	0.53228	TTC	GLDN	-	NULL		0.642	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	T	NM_181789		51689777	1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51689777	T	C	51689777	3	2	131	1	0	0	0	0	1	0	0	0	6453	1725	60	5	821	5	GLDN	15	51689777	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	901725	51689777	50841615	1531	21671										
KIAA1370	56204	genome.wustl.edu	37	chr15	52902315	52902315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtttgtttgctacacagacGctgtgaactgtttgtaccac	9	9	0	2	rs376021732		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:52902315G>A	ENST00000261844.7	-	6	948	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	FAM214A_ENST00000546305.2_Missense_Mutation_p.R273C	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	266																	CTACACAGACGCTGTGAACTG	0.388													G|||	1	0.000199681	8e-04	0	5008	,	,		21690	0		0	False		,,,				2504	0																0													196	164	174					15																	52902315		1929	4140	6069	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.796C>T	15.37:g.52902315G>A	ENSP00000261844:p.Arg266Cys		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.R266C	ENST00000261844.7	37	c.796	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588322	0.28357	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33865	1.4;1.39	4.76	2.81	0.32909	.	0.554068	0.22437	N	0.060072	T	0.33294	0.0858	L	0.60455	1.87	0.40266	D	0.978233	B;B	0.20780	0.048;0.028	B;B	0.16289	0.015;0.007	T	0.22277	-1.0221	10	0.87932	D	0	.	9.8905	0.41288	0.0742:0.0:0.7837:0.1421	.	273;266	F5H8G0;Q32MH5	.;K1370_HUMAN	C	266;266;265;273	ENSP00000261844:R266C;ENSP00000443598:R273C	ENSP00000261844:R266C	R	-	1	0	KIAA1370	50689607	0.972000	0.33761	0.998000	0.56505	0.994000	0.84299	3.771000	0.55318	0.631000	0.30412	0.655000	0.94253	CGT	FAM214A	-	NULL		0.388	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	G	NM_019600		52902315	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52902315	G	A	52902315	3	1	131	1	0	0	0	0	1	0	0	0	8246	1087	38	2	2466	2	KIAA1370	15	52902315	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1212538	52902315	49629077	1532	21672										
UNC13C	440279	genome.wustl.edu	37	chr15	54838927	54838927	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttttttttcagattaagtCtctcagcaaaaatctgtgag	6	6	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:54838927C>T	ENST00000260323.11	+	26	5704	c.5704C>T	c.(5704-5706)Ctc>Ttc	p.L1902F	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1902F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1900F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1902	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGATTAAGTCTCTCAGCAAA	0.284																																																	0													23	20	21					15																	54838927		1664	3839	5503	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5704C>T	15.37:g.54838927C>T	ENSP00000260323:p.Leu1902Phe		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1902F	ENST00000260323.11	37	c.5704	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001562	0.54254	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.19669	2.13;2.13;2.13	5.59	4.68	0.58851	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.136236	0.47093	D	0.000248	T	0.42063	0.1186	M	0.74258	2.255	0.44380	D	0.997285	D	0.58268	0.982	P	0.62740	0.906	T	0.35201	-0.9798	10	0.62326	D	0.03	.	10.8484	0.46757	0.134:0.6136:0.2523:0.0	.	1902	Q8NB66	UN13C_HUMAN	F	1902;1902;1900	ENSP00000260323:L1902F;ENSP00000438156:L1902F;ENSP00000442569:L1900F	ENSP00000260323:L1902F	L	+	1	0	UNC13C	52626219	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.289000	0.33307	1.373000	0.46208	-0.226000	0.12346	CTC	UNC13C	-	pfam_Munc13_subgr_dom-2		0.284	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	C	NM_173166		54838927	1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54838927	C	T	54838927	3	4	131	1	0	0	0	0	1	0	0	0	17017	913	32	1	5802	1	UNC13C	15	54838927	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1936612	54838927	47692465	1533	21673										
NEDD4	4734	genome.wustl.edu	37	chr15	56130719	56130719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcacaaacctgtccaaaaagTtcttcatctatgataaacct	3	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:56130719T>G	ENST00000508342.1	-	18	3671	c.3372A>C	c.(3370-3372)gaA>gaC	p.E1124D	NEDD4_ENST00000338963.2_Missense_Mutation_p.E1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E705D|NEDD4_ENST00000506154.1_Missense_Mutation_p.E1108D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1124	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTCCAAAAAGTTCTTCATCTA	0.328																																																	0													86	86	86					15																	56130719		2192	4290	6482	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3372A>C	15.37:g.56130719T>G	ENSP00000424827:p.Glu1124Asp		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.E1124D	ENST00000508342.1	37	c.3372		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.05|14.05	2.420764|2.420764	0.42918|0.42918	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.69|5.69	0.805|0.805	0.18703|0.18703	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37972|0.37972	0.1023|0.1023	N|N	0.17800|0.17800	0.525|0.525	0.58432|0.58432	D|D	0.999996|0.999996	D;B;B;B|.	0.58970|.	0.984;0.001;0.005;0.004|.	D;B;B;B|.	0.65140|.	0.932;0.004;0.019;0.011|.	T|T	0.05971|0.05971	-1.0853|-1.0853	10|5	0.45353|.	T|.	0.12|.	.|.	9.0227|9.0227	0.36209|0.36209	0.0:0.2866:0.0:0.7134|0.0:0.2866:0.0:0.7134	.|.	1108;705;1124;1052|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	D|T	1124;705;1052;1108|715	ENSP00000424827:E1124D;ENSP00000410613:E705D;ENSP00000345530:E1052D;ENSP00000422705:E1108D|.	ENSP00000345530:E1052D|.	E|N	-|-	3|2	2|0	NEDD4|NEDD4	53918011|53918011	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	0.332000|0.332000	0.19751|0.19751	0.091000|0.091000	0.17302|0.17302	0.528000|0.528000	0.53228|0.53228	GAA|AAC	NEDD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.328	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	T	NM_198400		56130719	-1	no_errors	ENST00000508342	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56130719	T	G	56130719	3	3	131	1	0	0	0	0	1	0	0	0	10334	1722	60	5	619	5	NEDD4	15	56130719	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1291792	56130719	46400673	1534	21674										
RFX7	64864	genome.wustl.edu	37	chr15	56387634	56387634	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatcactgtccaagagaaaGacacttccttcaagttttac	6	10	2	2	rs376497617		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:56387634G>T	ENST00000559447.2	-	9	2272	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	RFX7_ENST00000422057.1_Silent_p.V667V|RFX7_ENST00000317318.6_Silent_p.V764V|RFX7_ENST00000423270.1_Silent_p.V764V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	667					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAAGAGAAAGACACTTCCTT	0.393																																																	0													115	104	107					15																	56387634		1871	4096	5967	SO:0001819	synonymous_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2001C>A	15.37:g.56387634G>T			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	pfam_DNA-bd_RFX	p.V764	ENST00000559447.2	37	c.2292		15																																																																																			RFX7	-	NULL		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	G	NM_022841		56387634	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	silent	SNP	0.996	T	T	56387634	G	T	56387634	2	4	131	1	0	0	0	0	0	0	0	1	13298	929	33	3		3	RFX7	15	56387634	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	256915	56387634	46143758	1535	21675										
MNS1	55329	genome.wustl.edu	37	chr15	56748670	56748670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgccaattccatagccagtTtttcttcttgtttgagctgg	8	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:56748670T>G	ENST00000260453.3	-	3	439	c.275A>C	c.(274-276)aAa>aCa	p.K92T		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	92	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATAGCCAGTTTTTCTTCTTG	0.343																																																	0													178	162	167					15																	56748670		2191	4292	6483	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.275A>C	15.37:g.56748670T>G	ENSP00000260453:p.Lys92Thr		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.K92T	ENST00000260453.3	37	c.275	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026785	0.54683	.	.	ENSG00000138587	ENST00000260453	T	0.15256	2.44	5.87	4.76	0.60689	.	0.082020	0.85682	D	0.000000	T	0.15565	0.0375	L	0.51422	1.61	0.30934	N	0.726627	P	0.38922	0.651	B	0.38428	0.273	T	0.10683	-1.0619	10	0.35671	T	0.21	-27.6244	7.1597	0.25657	0.0:0.1744:0.0:0.8256	.	92	Q8NEH6	MNS1_HUMAN	T	92	ENSP00000260453:K92T	ENSP00000260453:K92T	K	-	2	0	MNS1	54535962	1.000000	0.71417	0.908000	0.35775	0.767000	0.43475	1.850000	0.39328	1.168000	0.42723	0.533000	0.62120	AAA	MNS1	-	NULL		0.343	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	T	NM_018365		56748670	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	missense	SNP	0.973	G	G	56748670	T	G	56748670	3	3	131	1	0	0	0	0	1	0	0	0	9700	1841	64	5	1244	5	MNS1	15	56748670	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	361036	56748670	45782722	1536	21676										
RORA	6095	genome.wustl.edu	37	chr15	60803653	60803653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgtagttactgaggtcgtCgtgaagttccgtcagcccgt	12	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:60803653C>T	ENST00000335670.6	-	5	692	c.592G>A	c.(592-594)Gac>Aac	p.D198N	RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.D231N|RORA_ENST00000309157.4_Missense_Mutation_p.D223N|RORA_ENST00000449337.2_Missense_Mutation_p.D143N|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_5'Flank	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	198	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTGAGGTCGTCGTGAAGTTCC	0.617																																																	0													203	147	166					15																	60803653		2203	4300	6503	SO:0001583	missense	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.592G>A	15.37:g.60803653C>T	ENSP00000335087:p.Asp198Asn		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.D231N	ENST00000335670.6	37	c.691	CCDS10177.1	15	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368418	0.61513	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94497	-3.4;-3.39;-3.44;-3.35	5.9	5.9	0.94986	.	0.170493	0.64402	D	0.000007	D	0.88880	0.6557	N	0.12663	0.25	0.80722	D	1	B;B;B;B	0.32051	0.354;0.001;0.005;0.103	B;B;B;B	0.32624	0.149;0.002;0.002;0.036	D	0.85918	0.1444	10	0.13470	T	0.59	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	198;223;231;143	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	N	198;143;223;231	ENSP00000335087:D198N;ENSP00000402971:D143N;ENSP00000309753:D223N;ENSP00000261523:D231N	ENSP00000261523:D231N	D	-	1	0	RORA	58590945	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.476000	0.81055	2.788000	0.95919	0.650000	0.86243	GAC	RORA	-	NULL		0.617	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2	C			60803653	-1	no_errors	ENST00000261523	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60803653	C	T	60803653	3	4	131	1	0	0	0	0	1	0	0	0	13558	884	31	1	1007	1	RORA	15	60803653	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4054983	60803653	41727739	1537	21677										
VPS13C	54832	genome.wustl.edu	37	chr15	62204064	62204064	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagaagcaatatagttccatTtattagttggcattgagcca	8	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:62204064T>G	ENST00000261517.5	-	63	8763	c.8690A>C	c.(8689-8691)aAa>aCa	p.K2897T	VPS13C_ENST00000249837.3_Missense_Mutation_p.K2854T|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2854T|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2897T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAGTTCCATTTATTAGTTGG	0.328																																																	0													84	81	82					15																	62204064		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8690A>C	15.37:g.62204064T>G	ENSP00000261517:p.Lys2897Thr			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.K2897T	ENST00000261517.5	37	c.8690	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664048	0.67700	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.31510	1.49;1.49;1.49	5.7	5.7	0.88788	Vacuolar protein sorting-associated protein (1);	0.098515	0.64402	D	0.000002	T	0.39517	0.1081	M	0.63428	1.95	0.53688	D	0.99997	B;B;P;B;P	0.42123	0.34;0.34;0.729;0.34;0.771	B;B;B;B;P	0.45276	0.171;0.171;0.236;0.237;0.475	T	0.13656	-1.0501	10	0.34782	T	0.22	.	15.9666	0.79979	0.0:0.0:0.0:1.0	.	2897;2854;2897;2854;2897	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	T	2854;2897;2897;2897	ENSP00000249837:K2854T;ENSP00000261517:K2897T;ENSP00000379233:K2897T	ENSP00000249837:K2854T	K	-	2	0	VPS13C	59991356	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	2.802000	0.47916	2.174000	0.68829	0.482000	0.46254	AAA	VPS13C	-	pfam_VPSAP		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	T	NM_017684		62204064	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62204064	T	G	62204064	3	3	131	1	0	0	0	0	1	0	0	0	17222	1841	64	5	2691	5	VPS13C	15	62204064	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1400411	62204064	40327328	1538	21678										
RAB8B	51762	genome.wustl.edu	37	chr15	63481897	63481897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtaggcaagacctgcctccTgttccgcttctcagaggacg	12	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:63481897T>G	ENST00000321437.4	+	1	230	c.74T>G	c.(73-75)cTg>cGg	p.L25R	RAB8B_ENST00000448330.2_Missense_Mutation_p.L25R	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	25					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ACCTGCCTCCTGTTCCGCTTC	0.637																																																	0													73	55	61					15																	63481897		2203	4300	6503	SO:0001583	missense	51762			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.74T>G	15.37:g.63481897T>G	ENSP00000312734:p.Leu25Arg		Q5JPC4|Q9P293	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L25R	ENST00000321437.4	37	c.74	CCDS10183.1	15	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522922	0.64747	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.80824	-1.42;-1.42	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.073810	0.56097	D	0.000029	D	0.93190	0.7831	H	0.98370	4.215	0.58432	D	0.999998	D;D	0.63046	0.99;0.992	P;D	0.66979	0.886;0.948	D	0.95381	0.8473	10	0.87932	D	0	.	13.528	0.61605	0.0:0.0:0.0:1.0	.	25;25	F5GY21;Q92930	.;RAB8B_HUMAN	R	25	ENSP00000312734:L25R;ENSP00000405463:L25R	ENSP00000312734:L25R	L	+	2	0	RAB8B	61268950	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.868000	0.63021	1.876000	0.54355	0.528000	0.53228	CTG	RAB8B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.637	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8B	HGNC	protein_coding	OTTHUMT00000256336.1	T	NM_016530		63481897	1	no_errors	ENST00000321437	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63481897	T	G	63481897	3	3	131	1	0	0	0	0	1	0	0	0	12987	1580	55	5	76	5	RAB8B	15	63481897	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1277833	63481897	39049495	1539	21679										
APH1B	83464	genome.wustl.edu	37	chr15	63597826	63597826	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgcagaccttcataagttCttattatggaataaacctgg	7	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:63597826C>A	ENST00000261879.5	+	6	690	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	APH1B_ENST00000380343.4_Missense_Mutation_p.S166Y|APH1B_ENST00000560716.1_3'UTR	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	207					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TTCATAAGTTCTTATTATGGA	0.423																																																	0													64	67	66					15																	63597826		2203	4300	6503	SO:0001583	missense	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.620C>A	15.37:g.63597826C>A	ENSP00000261879:p.Ser207Tyr		A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	pfam_Aph-1	p.S207Y	ENST00000261879.5	37	c.620	CCDS10184.1	15	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734308	0.30774	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.45276	0.9;0.9	5.07	4.15	0.48705	.	0.121963	0.56097	D	0.000029	T	0.36386	0.0965	L	0.42245	1.32	0.28246	N	0.925472	P;P	0.42941	0.794;0.794	B;B	0.42282	0.382;0.382	T	0.29971	-0.9994	10	0.59425	D	0.04	-4.6969	9.2924	0.37795	0.0:0.9004:0.0:0.0996	.	166;207	Q564N3;Q8WW43	.;APH1B_HUMAN	Y	166;207	ENSP00000369700:S166Y;ENSP00000261879:S207Y	ENSP00000261879:S207Y	S	+	2	0	APH1B	61384879	0.999000	0.42202	0.086000	0.20670	0.384000	0.30261	4.508000	0.60441	1.136000	0.42199	0.455000	0.32223	TCT	APH1B	-	pfam_Aph-1		0.423	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1	C	NM_031301		63597826	1	no_errors	ENST00000261879	ensembl	human	known	70_37	missense	SNP	0.983	A	A	63597826	C	A	63597826	3	1	131	1	0	0	0	0	1	0	0	0	772	913	32	3	642	3	APH1B	15	63597826	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	115929	63597826	38933566	1540	21680										
HERC1	8925	genome.wustl.edu	37	chr15	63964722	63964722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactaagaggcatcactcccGgggactcggatgcaggcact	13	12	1	1	rs375309992		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:63964722G>A	ENST00000443617.2	-	39	8105	c.8018C>T	c.(8017-8019)cCg>cTg	p.P2673L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2673					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATCACTCCCGGGGACTCGGA	0.512																																																	0								G	LEU/PRO	1,4031		0,1,2015	66	67	67		8018	6.1	1	15		67	0,8364		0,0,4182	no	missense	HERC1	NM_003922.3	98	0,1,6197	AA,AG,GG		0.0,0.0248,0.0081	probably-damaging	2673/4862	63964722	1,12395	2016	4182	6198	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8018C>T	15.37:g.63964722G>A	ENSP00000390158:p.Pro2673Leu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P2673L	ENST00000443617.2	37	c.8018	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.414903	0.96092	2.48E-4	0.0	ENSG00000103657	ENST00000443617	T	0.22743	1.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04140	-1.0974	10	0.45353	T	0.12	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2673	Q15751	HERC1_HUMAN	L	2673	ENSP00000390158:P2673L	ENSP00000390158:P2673L	P	-	2	0	HERC1	61751775	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.787000	0.99055	2.885000	0.99019	0.655000	0.94253	CCG	HERC1	-	NULL		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63964722	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63964722	G	A	63964722	3	1	131	1	0	0	0	0	1	0	0	0	7077	1116	39	2	6727	2	HERC1	15	63964722	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	366896	63964722	38566670	1541	21681										
PDCD7	10081	genome.wustl.edu	37	chr15	65412231	65412231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagagcgctttttaatgagTtttctcagtcgctgaagatg	10	7	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:65412231T>C	ENST00000204549.4	-	3	1125	c.1071A>G	c.(1069-1071)aaA>aaG	p.K357K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	357					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TTTTAATGAGTTTTCTCAGTC	0.423																																																	0													102	116	111					15																	65412231		2202	4299	6501	SO:0001819	synonymous_variant	10081			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1071A>G	15.37:g.65412231T>C			Q96AK8|Q9Y6D7	Silent	SNP	NULL	p.K357	ENST00000204549.4	37	c.1071	CCDS10201.1	15																																																																																			PDCD7	-	NULL		0.423	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD7	HGNC	protein_coding	OTTHUMT00000256784.2	T	NM_005707		65412231	-1	no_errors	ENST00000204549	ensembl	human	known	70_37	silent	SNP	0.987	C	C	65412231	T	C	65412231	2	2	131	1	0	0	0	0	0	0	0	1	11649	1722	60	5		5	PDCD7	15	65412231	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1447509	65412231	37119161	1542	21682										
CILP	8483	genome.wustl.edu	37	chr15	65495702	65495702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctagcagaatacgcaccaAaaatacttgtctggcctggg	10	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:65495702A>C	ENST00000261883.4	-	7	1192	c.1026T>G	c.(1024-1026)ttT>ttG	p.F342L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	342	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATACGCACCAAAAATACTTGT	0.493																																																	0													124	110	115					15																	65495702		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1026T>G	15.37:g.65495702A>C	ENSP00000261883:p.Phe342Leu		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.F342L	ENST00000261883.4	37	c.1026	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	A	3.935	-0.015441	0.07681	.	.	ENSG00000138615	ENST00000261883	T	0.11930	2.73	5.48	2.23	0.28157	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.368010	0.32120	N	0.006541	T	0.05914	0.0154	N	0.12663	0.25	0.36785	D	0.884534	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.10636	T	0.68	-29.6106	6.9767	0.24679	0.1739:0.137:0.6891:0.0	.	342	O75339	CILP1_HUMAN	L	342	ENSP00000261883:F342L	ENSP00000261883:F342L	F	-	3	2	CILP	63282755	1.000000	0.71417	0.993000	0.49108	0.072000	0.16883	1.836000	0.39191	0.152000	0.19188	-0.408000	0.06270	TTT	CILP	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	A	NM_003613		65495702	-1	no_errors	ENST00000261883	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65495702	A	C	65495702	3	2	131	1	0	0	0	0	1	0	0	0	3434	11	1	5	2540	5	CILP	15	65495702	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	83471	65495702	37035690	1543	21683										
C15orf44	81556	genome.wustl.edu	37	chr15	65888144	65888144	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaatatcagctatatcaatAaatcccactatttccaaatc	2	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:65888144A>C	ENST00000395644.4	-	7	1103	c.768T>G	c.(766-768)ttT>ttG	p.F256L	VWA9_ENST00000567744.1_Missense_Mutation_p.F292L|VWA9_ENST00000313182.2_Missense_Mutation_p.F256L|VWA9_ENST00000420799.2_Missense_Mutation_p.F199L|VWA9_ENST00000442903.3_Missense_Mutation_p.F220L|VWA9_ENST00000569491.1_Missense_Mutation_p.F207L|VWA9_ENST00000431261.2_Missense_Mutation_p.F177L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	256																	CTATATCAATAAATCCCACTA	0.348																																																	0													78	75	76					15																	65888144		2201	4299	6500	SO:0001583	missense	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.768T>G	15.37:g.65888144A>C	ENSP00000379006:p.Phe256Leu		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.F292L	ENST00000395644.4	37	c.876		15	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318640	0.81469	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.96	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.81802	2.56	0.58432	D	0.999996	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	D;D;D;D	0.83275	0.99;0.996;0.994;0.994	T	0.75616	-0.3256	9	0.87932	D	0	-18.8652	8.7275	0.34478	0.5763:0.0:0.4237:0.0	.	207;220;292;256	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	L	256;256;177;199;220	.	ENSP00000326379:F256L	F	-	3	2	C15orf44	63675197	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.828000	0.39111	0.410000	0.25675	0.533000	0.62120	TTT	VWA9	-	NULL		0.348	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	A	NM_030800		65888144	-1	no_errors	ENST00000567744	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65888144	A	C	65888144	3	2	131	1	0	0	0	0	1	0	0	0	1802	359	13	5	812	5	C15orf44	15	65888144	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	392442	65888144	36643248	1544	21684										
CALML4	91860	genome.wustl.edu	37	chr15	68497641	68497641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcccagaaccgcgttcagttCcctttcctccagcctcaagt	6	17	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:68497641C>T	ENST00000467889.1	-	1	258	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CALML4_ENST00000540479.1_5'UTR|CALML4_ENST00000395465.3_Missense_Mutation_p.G25E|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000448060.2_Missense_Mutation_p.G25E	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	25							calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GCGTTCAGTTCCCTTTCCTCC	0.642																																																	0													66	65	65					15																	68497641		2200	4298	6498	SO:0001583	missense	91860			AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"EF-hand domain containing"	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.74G>A	15.37:g.68497641C>T	ENSP00000419081:p.Gly25Glu		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G25E	ENST00000467889.1	37	c.74	CCDS10226.2	15	.	.	.	.	.	.	.	.	.	.	C	11.40	1.629053	0.28978	.	.	ENSG00000129007	ENST00000395465;ENST00000448060;ENST00000467889	T;T;T	0.70516	2.05;-0.45;-0.49	4.09	-0.315	0.12746	.	1.329470	0.06099	U	0.664989	T	0.51176	0.1659	N	0.19112	0.55	0.20926	N	0.999823	B;B	0.13594	0.008;0.003	B;B	0.11329	0.006;0.002	T	0.27331	-1.0077	9	.	.	.	.	4.6975	0.12811	0.0:0.4049:0.3016:0.2935	.	25;25	F8W6Y4;Q96GE6	.;CALL4_HUMAN	E	25	ENSP00000378848:G25E;ENSP00000400755:G25E;ENSP00000419081:G25E	.	G	-	2	0	CALML4	66284695	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.206000	0.03011	0.005000	0.14708	0.478000	0.44815	GGA	CALML4	-	NULL		0.642	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML4	HGNC	protein_coding	OTTHUMT00000257067.3	C	NM_033429		68497641	-1	no_errors	ENST00000467889	ensembl	human	known	70_37	missense	SNP	0.001	T	T	68497641	C	T	68497641	3	4	131	1	0	0	0	0	1	0	0	0	2593	855	30	1	536	1	CALML4	15	68497641	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2609497	68497641	34033751	1545	21685										
FEM1B	10116	genome.wustl.edu	37	chr15	68583077	68583077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaccaaaacacagtgcagcGaagaagatcagtgcaaaatt	8	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:68583077G>A	ENST00000306917.4	+	2	1996	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	461					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.E461delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTGCAGCGAAGAAGATCA	0.403																																																	1	Deletion - In frame(1)	ovary(1)											143	130	134					15																	68583077		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1381G>A	15.37:g.68583077G>A	ENSP00000307298:p.Glu461Lys		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E461K	ENST00000306917.4	37	c.1381	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537717	0.65085	.	.	ENSG00000169018	ENST00000306917	T	0.45668	0.89	5.95	5.95	0.96441	.	0.088882	0.85682	D	0.000000	T	0.34513	0.0900	L	0.47716	1.5	0.80722	D	1	P	0.42556	0.783	B	0.31686	0.134	T	0.12630	-1.0540	10	0.19590	T	0.45	-10.9522	19.36	0.94432	0.0:0.0:1.0:0.0	.	461	Q9UK73	FEM1B_HUMAN	K	461	ENSP00000307298:E461K	ENSP00000307298:E461K	E	+	1	0	FEM1B	66370131	1.000000	0.71417	0.957000	0.39632	0.847000	0.48162	7.989000	0.88205	2.826000	0.97356	0.491000	0.48974	GAA	FEM1B	-	NULL		0.403	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	G			68583077	1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68583077	G	A	68583077	3	1	131	1	0	0	0	0	1	0	0	0	5828	1059	37	1	1387	1	FEM1B	15	68583077	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	85436	68583077	33948315	1546	21686										
GRAMD2	196996	genome.wustl.edu	37	chr15	72460141	72460141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggggagatgtagagccggCcctggaggaggaagtccctc	18	9	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:72460141C>T	ENST00000309731.7	-	5	321	c.308G>A	c.(307-309)gGc>gAc	p.G103D	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	103	GRAM.					integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GTAGAGCCGGCCCTGGAGGAG	0.572																																																	0													99	89	93					15																	72460141		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.308G>A	15.37:g.72460141C>T	ENSP00000311657:p.Gly103Asp		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.G103D	ENST00000309731.7	37	c.308	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145917	0.77888	.	.	ENSG00000175318	ENST00000309731	D	0.99907	-7.8	5.0	4.09	0.47781	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96238	0.9173	10	0.87932	D	0	.	11.3348	0.49498	0.0:0.9153:0.0:0.0847	.	103	Q8IUY3	GRAM2_HUMAN	D	103	ENSP00000311657:G103D	ENSP00000311657:G103D	G	-	2	0	GRAMD2	70247195	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	6.545000	0.73883	1.333000	0.45449	0.561000	0.74099	GGC	GRAMD2	-	pfam_GRAM,smart_GRAM		0.572	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	C	NM_001012642		72460141	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72460141	C	T	72460141	3	4	131	1	0	0	0	0	1	0	0	0	6770	739	26	4	788	4	GRAMD2	15	72460141	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3877064	72460141	30071251	1547	21687										
ISLR2	57611	genome.wustl.edu	37	chr15	74426936	74426936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccttctgggcgccgcctgctGccatctgctggctaaacacc	10	17	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:74426936G>T	ENST00000361742.3	+	4	2610	c.1841G>T	c.(1840-1842)tGc>tTc	p.C614F	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.C614F|ISLR2_ENST00000565159.1_Missense_Mutation_p.C614F|ISLR2_ENST00000435464.1_Missense_Mutation_p.C614F|ISLR2_ENST00000419208.1_Missense_Mutation_p.C614F|ISLR2_ENST00000453268.2_Missense_Mutation_p.C614F|ISLR2_ENST00000445793.1_Missense_Mutation_p.C614F	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	614					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCGCCTGCTGCCATCTGCTG	0.632											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37	34	35					15																	74426936		2198	4297	6495	SO:0001583	missense	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1841G>T	15.37:g.74426936G>T	ENSP00000355402:p.Cys614Phe	1152	A8K352|Q9P263	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.C614F	ENST00000361742.3	37	c.1841	CCDS10259.1	15	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532779	0.45073	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.32530	0.975	0.80722	D	1	B	0.32071	0.355	B	0.29267	0.1	T	0.47341	-0.9125	10	0.56958	D	0.05	.	16.6828	0.85297	0.0:0.0:1.0:0.0	.	614	Q6UXK2	ISLR2_HUMAN	F	614;614;614;614;203;614	ENSP00000403244:C614F;ENSP00000355402:C614F;ENSP00000411443:C614F;ENSP00000411834:C614F;ENSP00000408872:C614F	ENSP00000355402:C614F	C	+	2	0	ISLR2	72213989	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.461000	0.97646	2.233000	0.73108	0.313000	0.20887	TGC	ISLR2	-	NULL		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	G	NM_020851		74426936	1	no_errors	ENST00000361742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74426936	G	T	74426936	3	4	131	1	0	0	0	0	1	0	0	0	7879	1319	46	4	1843	4	ISLR2	15	74426936	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1966795	74426936	28104456	1548	21688										
CSPG4	1464	genome.wustl.edu	37	chr15	75969500	75969500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtgcccccaccgccgtggGcatacactagctgccctgca	12	17	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:75969500G>A	ENST00000308508.5	-	10	5452	c.5360C>T	c.(5359-5361)gCc>gTc	p.A1787V	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1787	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCGCCGTGGGCATACACTAG	0.692																																																	0													8	10	10					15																	75969500		2175	4280	6455	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5360C>T	15.37:g.75969500G>A	ENSP00000312506:p.Ala1787Val		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.A1787V	ENST00000308508.5	37	c.5360	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	G	4.644	0.119795	0.08881	.	.	ENSG00000173546	ENST00000308508	T	0.19105	2.17	5.39	4.27	0.50696	.	0.358204	0.26780	N	0.022535	T	0.17746	0.0426	L	0.39633	1.23	0.34769	D	0.733551	B	0.14438	0.01	B	0.09377	0.004	T	0.11591	-1.0581	10	0.23302	T	0.38	.	14.0736	0.64874	0.0858:0.0:0.9142:0.0	.	1787	Q6UVK1	CSPG4_HUMAN	V	1787	ENSP00000312506:A1787V	ENSP00000312506:A1787V	A	-	2	0	CSPG4	73756555	0.263000	0.24083	0.975000	0.42487	0.051000	0.14879	1.198000	0.32223	2.517000	0.84864	0.561000	0.74099	GCC	CSPG4	-	NULL		0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75969500	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.992	A	A	75969500	G	A	75969500	3	1	131	1	0	0	0	0	1	0	0	0	3965	1203	42	4	1612	4	CSPG4	15	75969500	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1542564	75969500	26561892	1549	21689										
CSPG4	1464	genome.wustl.edu	37	chr15	75982483	75982483	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctgaggactcctcggttcGaagtatgcgtagggtactgg	15	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:75982483G>T	ENST00000308508.5	-	3	1015	c.923C>A	c.(922-924)tCg>tAg	p.S308*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	308	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCTCGGTTCGAAGTATGCGT	0.622																																																	0													37	28	31					15																	75982483		2195	4290	6485	SO:0001587	stop_gained	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.923C>A	15.37:g.75982483G>T	ENSP00000312506:p.Ser308*		D3DW77|Q92675	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.S308*	ENST00000308508.5	37	c.923	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	18.03	3.533464	0.64972	.	.	ENSG00000173546	ENST00000308508	.	.	.	5.26	4.34	0.51931	.	0.084427	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.4232	0.44363	0.0924:0.0:0.9076:0.0	.	.	.	.	X	308	.	ENSP00000312506:S308X	S	-	2	0	CSPG4	73769538	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	3.501000	0.53325	1.191000	0.43056	0.555000	0.69702	TCG	CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75982483	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	nonsense	SNP	0.976	T	T	75982483	G	T	75982483	4	4	131	1	0	0	0	0	0	1	0	0	3965	1059	37	3	6077	3	CSPG4	15	75982483	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	12983	75982483	26548909	1550	21690										
KIAA1024	23251	genome.wustl.edu	37	chr15	79748540	79748540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggtgaagatcttggaggaActggacagcaagcaaaatac	12	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:79748540A>C	ENST00000305428.3	+	2	126	c.51A>C	c.(49-51)gaA>gaC	p.E17D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	17						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCTTGGAGGAACTGGACAGCA	0.468																																																	0													98	90	92					15																	79748540		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.51A>C	15.37:g.79748540A>C	ENSP00000307461:p.Glu17Asp		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.E17D	ENST00000305428.3	37	c.51	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865842	0.51588	.	.	ENSG00000169330	ENST00000305428	T	0.39592	1.07	5.71	-9.47	0.00594	.	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.56769	1.78	0.33919	D	0.6406	B	0.34372	0.451	B	0.37422	0.249	T	0.40384	-0.9566	9	.	.	.	.	17.8873	0.88861	0.1675:0.0:0.7568:0.0757	.	17	Q9UPX6	K1024_HUMAN	D	17	ENSP00000307461:E17D	.	E	+	3	2	KIAA1024	77535595	0.046000	0.20272	0.210000	0.23637	0.967000	0.64934	-0.275000	0.08525	-2.300000	0.00658	-0.538000	0.04264	GAA	KIAA1024	-	NULL		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	A	NM_015206		79748540	1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.173	C	C	79748540	A	C	79748540	3	2	131	1	0	0	0	0	1	0	0	0	8225	40	2	5	53	5	KIAA1024	15	79748540	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3766057	79748540	22782852	1551	21691										
FAH	2184	genome.wustl.edu	37	chr15	80452212	80452212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagagatgacaccgaacttCggaagtggtgagaagcacgt	13	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:80452212C>T	ENST00000407106.1	+	4	462	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	FAH_ENST00000539156.1_Missense_Mutation_p.R33W|FAH_ENST00000261755.5_Missense_Mutation_p.R103W|FAH_ENST00000561421.1_Missense_Mutation_p.R103W			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	103					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACCGAACTTCGGAAGTGGTG	0.577									Tyrosinemia, type 1																																								0													89	67	74					15																	80452212		2203	4300	6503	SO:0001583	missense	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.307C>T	15.37:g.80452212C>T	ENSP00000385080:p.Arg103Trp		B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.R103W	ENST00000407106.1	37	c.307	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825421	0.50739	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755;ENST00000539156	D;D;D	0.88975	-2.45;-2.45;-2.45	4.57	3.64	0.41730	Fumarylacetoacetase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94122	0.8115	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.998;0.854;0.994	D	0.94545	0.7748	10	0.87932	D	0	-30.6804	13.0128	0.58741	0.1627:0.8373:0.0:0.0	.	103;33;103	B7Z4W2;Q53XA7;P16930	.;.;FAAA_HUMAN	W	103;103;103;33	ENSP00000385080:R103W;ENSP00000261755:R103W;ENSP00000454271:R33W	ENSP00000261755:R103W	R	+	1	2	FAH	78239267	1.000000	0.71417	0.878000	0.34440	0.067000	0.16453	3.187000	0.50950	1.138000	0.42230	0.591000	0.81541	CGG	FAH	-	pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase		0.577	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	C			80452212	1	no_errors	ENST00000261755	ensembl	human	known	70_37	missense	SNP	0.998	T	T	80452212	C	T	80452212	3	4	131	1	0	0	0	0	1	0	0	0	5386	875	31	1	317	1	FAH	15	80452212	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	703672	80452212	22079180	1552	21692										
WHAMM	123720	genome.wustl.edu	37	chr15	83485560	83485560	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctattcaggatatcacagtGaattattttaaggagacagt	8	5	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:83485560G>T	ENST00000286760.4	+	3	999	c.900G>T	c.(898-900)gtG>gtT	p.V300V		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	300	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ATATCACAGTGAATTATTTTA	0.363																																																	0													33	31	32					15																	83485560		1850	4071	5921	SO:0001819	synonymous_variant	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.900G>T	15.37:g.83485560G>T			Q8N1J9	Silent	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.V300	ENST00000286760.4	37	c.900	CCDS45333.1	15																																																																																			WHAMM	-	NULL		0.363	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	G			83485560	1	no_errors	ENST00000286760	ensembl	human	known	70_37	silent	SNP	1.000	T	T	83485560	G	T	83485560	2	4	131	1	0	0	0	0	0	0	0	1	17392	1277	45	3		3	WHAMM	15	83485560	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3033348	83485560	19045832	1553	21693										
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84568399	84568399	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatgttctctttttcttagAaaaaagtccagtggaagcaa	7	6	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:84568399A>G	ENST00000286744.5	+	15	1840	c.1616A>G	c.(1615-1617)gAa>gGa	p.E539G	ADAMTSL3_ENST00000567476.1_Splice_Site_p.E539G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	539						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTTCTTAGAAAAAAGTCCA	0.368																																																	0													71	65	67					15																	84568399		2203	4300	6503	SO:0001630	splice_region_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1616-1A>G	15.37:g.84568399A>G			A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E539G	ENST00000286744.5	37	c.1616	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025402	0.54683	.	.	ENSG00000156218	ENST00000286744	T	0.66995	-0.24	5.26	5.26	0.73747	.	0.055338	0.64402	D	0.000001	T	0.54111	0.1838	L	0.32530	0.975	0.58432	D	0.999997	B;B	0.15473	0.013;0.001	B;B	0.14578	0.011;0.0	T	0.49588	-0.8924	9	.	.	.	.	12.9268	0.58264	1.0:0.0:0.0:0.0	.	539;539	P82987-2;P82987	.;ATL3_HUMAN	G	539	ENSP00000286744:E539G	.	E	+	2	0	ADAMTSL3	82359403	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.720000	0.84759	1.989000	0.58080	0.523000	0.50628	GAA	ADAMTSL3	-	NULL		0.368	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	A	NM_207517	Missense_Mutation	84568399	1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84568399	A	G	84568399	5	3	131	1	0	0	0	0	0	0	1	0	276	260	9	5	1670	5	ADAMTSL3	15	84568399	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1082839	84568399	17962993	1554	21694										
PDE8A	5151	genome.wustl.edu	37	chr15	85619134	85619134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagaaaacacagttattgTtggtgtagtacgcaggtaaa	10	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:85619134T>G	ENST00000310298.4	+	5	728	c.476T>G	c.(475-477)gTt>gGt	p.V159G	PDE8A_ENST00000339708.5_Missense_Mutation_p.V159G|PDE8A_ENST00000557957.1_Missense_Mutation_p.V87G|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.V159G			O60658	PDE8A_HUMAN	phosphodiesterase 8A	159					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ACAGTTATTGTTGGTGTAGTA	0.294																																																	0													279	279	279					15																	85619134		2202	4299	6501	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.476T>G	15.37:g.85619134T>G	ENSP00000311453:p.Val159Gly		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.V159G	ENST00000310298.4	37	c.476	CCDS10336.1	15	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256516	0.80246	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.53640	0.61;0.61;0.61	5.01	5.01	0.66863	Signal transduction response regulator, receiver domain (1);	1.468920	0.04060	N	0.306186	T	0.69513	0.3119	M	0.71581	2.175	0.80722	D	1	D;D	0.56746	0.959;0.977	P;P	0.61722	0.761;0.893	T	0.52487	-0.8569	10	0.87932	D	0	.	12.9892	0.58608	0.0:0.0:0.0:1.0	.	159;159	O60658-2;O60658	.;PDE8A_HUMAN	G	159	ENSP00000311453:V159G;ENSP00000378056:V159G;ENSP00000340679:V159G	ENSP00000311453:V159G	V	+	2	0	PDE8A	83420138	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.101000	0.76997	2.012000	0.59069	0.491000	0.48974	GTT	PDE8A	-	pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily		0.294	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1	T	NM_002605		85619134	1	no_errors	ENST00000310298	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85619134	T	G	85619134	3	3	131	1	0	0	0	0	1	0	0	0	11677	1725	60	5	490	5	PDE8A	15	85619134	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1050735	85619134	16912258	1555	21695										
AKAP13	11214	genome.wustl.edu	37	chr15	86123367	86123367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgataacatagttagcgagTccgaaagcaccacagcaagg	11	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:86123367T>C	ENST00000394518.2	+	7	2163	c.2068T>C	c.(2068-2070)Tcc>Ccc	p.S690P	AKAP13_ENST00000361243.2_Missense_Mutation_p.S690P|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	690					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTAGCGAGTCCGAAAGCAC	0.498																																					Melanoma(94;603 1453 3280 32295 32951)												0													111	96	101					15																	86123367		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2068T>C	15.37:g.86123367T>C	ENSP00000378026:p.Ser690Pro		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S690P	ENST00000394518.2	37	c.2068	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217168	0.22373	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.08370	3.1;3.1	5.38	2.21	0.28008	.	.	.	.	.	T	0.02193	0.0068	N	0.01352	-0.895	0.19300	N	0.999973	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45483	-0.9258	9	0.02654	T	1	.	6.14	0.20255	0.0:0.5402:0.2891:0.1707	.	690;690	Q12802;Q12802-2	AKP13_HUMAN;.	P	690;690;689;689	ENSP00000354718:S690P;ENSP00000378026:S690P	ENSP00000354718:S690P	S	+	1	0	AKAP13	83924371	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.066000	0.11598	0.318000	0.23185	-0.119000	0.15052	TCC	AKAP13	-	NULL		0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	T	NM_007200		86123367	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	0.001	C	C	86123367	T	C	86123367	3	2	131	1	0	0	0	0	1	0	0	0	449	1667	58	5	2090	5	AKAP13	15	86123367	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	504233	86123367	16408025	1556	21696										
DET1	55070	genome.wustl.edu	37	chr15	89060067	89060067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatgacagatacccacttgTcatcataactgaagagagac	7	11	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:89060067T>C	ENST00000268148.8	-	4	1554	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	DET1_ENST00000564406.1_Missense_Mutation_p.D481G|DET1_ENST00000444300.1_Missense_Mutation_p.D481G	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	470						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TACCCACTTGTCATCATAACT	0.522																																																	0													48	49	48					15																	89060067		1936	4153	6089	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1409A>G	15.37:g.89060067T>C	ENSP00000268148:p.Asp470Gly		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.D481G	ENST00000268148.8	37	c.1442	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740869	0.89573	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.961	T	0.81614	-0.0853	9	0.87932	D	0	-35.7388	15.0164	0.71588	0.0:0.0:0.0:1.0	.	470;481	Q7L5Y6;B3KNN6	DET1_HUMAN;.	G	481;470	.	ENSP00000268148:D470G	D	-	2	0	DET1	86861071	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.681000	0.84073	2.326000	0.78906	0.533000	0.62120	GAC	DET1	-	pfam_De-etiolated_protein_1_Det1		0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	T	NM_017996		89060067	-1	no_errors	ENST00000444300	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89060067	T	C	89060067	3	2	131	1	0	0	0	0	1	0	0	0	4460	1667	58	5	251	5	DET1	15	89060067	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2936700	89060067	13471325	1557	21697										
MFGE8	4240	genome.wustl.edu	37	chr15	89449895	89449895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcatggatgaaatcgaattCgtgtccattaaggctgtagg	11	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:89449895C>T	ENST00000566497.1	-	4	563	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	MFGE8_ENST00000268150.8_Missense_Mutation_p.E168K|MFGE8_ENST00000539437.1_Missense_Mutation_p.E160K|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Missense_Mutation_p.E124K|MFGE8_ENST00000268151.7_Missense_Mutation_p.E168K			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	168	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAATCGAATTCGTGTCCATTA	0.512																																																	0													105	96	99					15																	89449895		2200	4299	6499	SO:0001583	missense	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.502G>A	15.37:g.89449895C>T	ENSP00000456281:p.Glu168Lys		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E168K	ENST00000566497.1	37	c.502	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	C	1.441	-0.567519	0.03910	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76	5.01	1.28	0.21552	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	1.105560	0.06567	N	0.747737	D	0.91774	0.7398	N	0.05306	-0.075	0.09310	N	1	B;B;B;B;B;B	0.24258	0.048;0.038;0.048;0.1;0.008;0.017	B;B;B;B;B;B	0.17433	0.018;0.008;0.018;0.017;0.004;0.01	D	0.86701	0.1929	10	0.08837	T	0.75	-7.9463	4.1718	0.10332	0.0:0.196:0.3519:0.4522	.	160;124;124;160;168;168	B3KTQ2;F5GZN3;B4E396;F5H7N9;Q08431-3;Q08431	.;.;.;.;.;MFGM_HUMAN	K	168;168;160;124	ENSP00000268150:E168K;ENSP00000268151:E168K;ENSP00000442386:E160K;ENSP00000444332:E124K	ENSP00000268150:E168K	E	-	1	0	MFGE8	87250899	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.380000	0.20602	0.109000	0.17891	-0.367000	0.07326	GAA	MFGE8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.512	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1	C	NM_005928		89449895	-1	no_errors	ENST00000268150	ensembl	human	known	70_37	missense	SNP	0.000	T	T	89449895	C	T	89449895	3	4	131	1	0	0	0	0	1	0	0	0	9543	893	31	1	681	1	MFGE8	15	89449895	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	389828	89449895	13081497	1558	21698										
ADAMTS17	170691	genome.wustl.edu	37	chr15	100594175	100594175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcccccttctcacatagcgaAcagttgtgcctgcaatctgg	9	14	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:100594175A>G	ENST00000268070.4	-	16	2327	c.2222T>C	c.(2221-2223)gTt>gCt	p.V741A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	741	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACATAGCGAACAGTTGTGCC	0.522																																																	0													231	223	226					15																	100594175		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2222T>C	15.37:g.100594175A>G	ENSP00000268070:p.Val741Ala		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V741A	ENST00000268070.4	37	c.2222	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894827	0.91962	.	.	ENSG00000140470	ENST00000268070	T	0.52754	0.65	5.9	5.9	0.94986	ADAM-TS Spacer 1 (1);	0.164682	0.38837	N	0.001541	T	0.57504	0.2058	M	0.63428	1.95	0.58432	D	0.999997	P	0.50819	0.939	P	0.50590	0.645	T	0.59064	-0.7524	10	0.49607	T	0.09	.	16.315	0.82915	1.0:0.0:0.0:0.0	.	741	Q8TE56	ATS17_HUMAN	A	741	ENSP00000268070:V741A	ENSP00000268070:V741A	V	-	2	0	ADAMTS17	98411698	1.000000	0.71417	0.976000	0.42696	0.786000	0.44442	8.743000	0.91592	2.250000	0.74265	0.533000	0.62120	GTT	ADAMTS17	-	pfam_ADAM_spacer1		0.522	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	A	NM_139057		100594175	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100594175	A	G	100594175	3	3	131	1	0	0	0	0	1	0	0	0	262	43	2	5	1093	5	ADAMTS17	15	100594175	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	11144280	100594175	1937217	1559	21699										
LINS1	55180	genome.wustl.edu	37	chr15	101120525	101120525	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cactgtgcagccatgtgagaTaacaatttatctgaattttg	8	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:101120525T>G	ENST00000314742.8	-	3	654	c.432A>C	c.(430-432)ttA>ttC	p.L144F	LINS_ENST00000560133.1_Missense_Mutation_p.L25F|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.L144F	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	144										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CCATGTGAGATAACAATTTAT	0.284																																																	0													49	51	50					15																	101120525		2203	4299	6502	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.432A>C	15.37:g.101120525T>G	ENSP00000318423:p.Leu144Phe		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.L144F	ENST00000314742.8	37	c.432	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146675	0.57151	.	.	ENSG00000140471	ENST00000314742	T	0.21932	1.98	5.81	1.0	0.19881	.	0.073236	0.56097	D	0.000029	T	0.37073	0.0990	M	0.72894	2.215	0.35469	D	0.797166	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.73708	0.956;0.976;0.981	T	0.41538	-0.9503	10	0.72032	D	0.01	-6.1468	5.3816	0.16194	0.0:0.3659:0.1483:0.4858	.	25;144;144	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	F	144	ENSP00000318423:L144F	ENSP00000318423:L144F	L	-	3	2	LINS	98938048	0.154000	0.22792	0.959000	0.39883	0.528000	0.34623	-0.795000	0.04580	0.175000	0.19841	0.528000	0.53228	TTA	LINS	-	NULL		0.284	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	T	NM_018148		101120525	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.997	G	G	101120525	T	G	101120525	3	3	131	1	0	0	0	0	1	0	0	0	8839	1403	49	5	1861	5	LINS1	15	101120525	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	526350	101120525	1410867	1560	21700										
LINS1	55180	genome.wustl.edu	37	chr15	101121044	101121044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaaacttcacagaaaacttTcattttgacttccaaaatgt	3	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:101121044T>G	ENST00000314742.8	-	2	226	c.4A>C	c.(4-6)Aaa>Caa	p.K2Q	LINS_ENST00000560133.1_Missense_Mutation_p.K2Q|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.K2Q	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	2										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAGAAAACTTTCATTTTGACT	0.348																																																	0													21	21	21					15																	101121044		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.4A>C	15.37:g.101121044T>G	ENSP00000318423:p.Lys2Gln		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.K2Q	ENST00000314742.8	37	c.4	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369050	0.42003	.	.	ENSG00000140471	ENST00000314742	T	0.22134	1.97	5.63	-1.85	0.07784	.	0.558669	0.17398	N	0.175674	T	0.13628	0.0330	L	0.44542	1.39	0.20489	N	0.999898	B;B;B	0.23806	0.091;0.091;0.082	B;B;B	0.23018	0.018;0.026;0.043	T	0.30446	-0.9978	10	0.20046	T	0.44	-2.24	7.4831	0.27417	0.0:0.4948:0.1351:0.3701	.	2;2;2	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	Q	2	ENSP00000318423:K2Q	ENSP00000318423:K2Q	K	-	1	0	LINS	98938567	0.767000	0.28508	0.472000	0.27241	0.596000	0.36781	0.180000	0.16860	-0.249000	0.09569	-0.321000	0.08615	AAA	LINS	-	NULL		0.348	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	T	NM_018148		101121044	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.476	G	G	101121044	T	G	101121044	3	3	131	1	0	0	0	0	1	0	0	0	8839	1792	62	5	2293	5	LINS1	15	101121044	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	519	101121044	1410348	1561	21701										
ALDH1A3	220	genome.wustl.edu	37	chr15	101447381	101447381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtatcgaagaagtgataaAaagagcgaatagcaccgact	10	6	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:101447381A>C	ENST00000329841.5	+	11	1821	c.1289A>C	c.(1288-1290)aAa>aCa	p.K430T	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K323T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	430					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GAAGTGATAAAAAGAGCGAAT	0.443																																																	0													142	125	131					15																	101447381		2203	4300	6503	SO:0001583	missense	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1289A>C	15.37:g.101447381A>C	ENSP00000332256:p.Lys430Thr		Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K430T	ENST00000329841.5	37	c.1289	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022617	0.35701	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.16196	2.36	4.27	1.89	0.25635	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.489271	0.23496	N	0.047554	T	0.16342	0.0393	L	0.28115	0.83	0.20703	N	0.999861	P;B	0.35575	0.51;0.2	P;B	0.46076	0.503;0.169	T	0.14420	-1.0473	10	0.48119	T	0.1	.	8.076	0.30716	0.7267:0.0:0.2733:0.0	.	334;430	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	430;334	ENSP00000332256:K430T	ENSP00000332256:K430T	K	+	2	0	ALDH1A3	99264904	0.878000	0.30173	0.710000	0.30468	0.775000	0.43874	1.971000	0.40530	0.141000	0.18875	-0.297000	0.09499	AAA	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.443	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	A			101447381	1	no_errors	ENST00000329841	ensembl	human	known	70_37	missense	SNP	0.305	C	C	101447381	A	C	101447381	3	2	131	1	0	0	0	0	1	0	0	0	492	14	1	5	1331	5	ALDH1A3	15	101447381	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	326337	101447381	1084011	1562	21702										
TARSL2	123283	genome.wustl.edu	37	chr15	102197161	102197161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgagccagctgtgcatttcGtattttcttatttagtgtac	8	8	1	1	rs373605221		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:102197161G>A	ENST00000335968.3	-	18	2440	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	742					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.R742*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGCATTTCGTATTTTCTTA	0.318																																																	1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG	0,4406		0,0,2203	98	90	93		2224	4.5	1	15		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TARSL2	NM_152334.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		742/803	102197161	1,13005	2203	4300	6503	SO:0001587	stop_gained	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2224C>T	15.37:g.102197161G>A	ENSP00000338093:p.Arg742*		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Nonsense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R742*	ENST00000335968.3	37	c.2224	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.315520	0.98207	0.0	1.16E-4	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.41	4.48	0.54585	.	0.132704	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0581	13.205	0.59790	0.0:0.0:0.8393:0.1607	.	.	.	.	X	742;647;742	.	ENSP00000329291:R647X	R	-	1	2	TARSL2	100014684	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.626000	0.24492	1.266000	0.44231	0.491000	0.48974	CGA	TARSL2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.318	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	G	NM_152334		102197161	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	102197161	G	A	102197161	4	1	131	1	0	0	0	0	0	1	0	0	15591	1153	40	2	192	2	TARSL2	15	102197161	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	749780	102197161	334231	1563	21703										
MSLN	10232	genome.wustl.edu	37	chr16	815696	815696	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgctcgtcctcagggcatCgtggccgcgtggcggcaacg	15	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:815696C>T	ENST00000382862.3	+	10	896	c.801C>T	c.(799-801)atC>atT	p.I267I	MSLN_ENST00000563941.1_Silent_p.I267I|MSLN_ENST00000545450.2_Silent_p.I267I|MSLN_ENST00000566549.1_Silent_p.I267I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	267	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTCAGGGCATCGTGGCCGCGT	0.701																																																	0													22	26	25					16																	815696		2180	4282	6462	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.801C>T	16.37:g.815696C>T			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	pfam_Mesothelin	p.I267	ENST00000382862.3	37	c.801	CCDS32356.1	16																																																																																			MSLN	-	pfam_Mesothelin		0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	C			815696	1	no_errors	ENST00000382862	ensembl	human	known	70_37	silent	SNP	0.001	T	T	815696	C	T	815696	2	4	131	1	0	0	0	0	0	0	0	1	9904	874	31	1		1	MSLN	16	815696	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		815696	89539057	1564	21704										
UBE2I	7329	genome.wustl.edu	37	chr16	1374764	1374764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtacgagaaaagggtccgAgcacaagccaagaagtttgc	13	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:1374764A>G	ENST00000355803.4	+	7	998	c.447A>G	c.(445-447)cgA>cgG	p.R149R	UBE2I_ENST00000397515.2_Silent_p.R149R|UBE2I_ENST00000566587.1_Silent_p.R149R|UBE2I_ENST00000325437.5_Silent_p.R149R|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Silent_p.R149R|UBE2I_ENST00000406620.1_Silent_p.R149R|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000403747.2_Silent_p.R149R	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	149					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AAAGGGTCCGAGCACAAGCCA	0.522																																																	0													107	93	98					16																	1374764		2199	4300	6499	SO:0001819	synonymous_variant	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.447A>G	16.37:g.1374764A>G			D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R149	ENST00000355803.4	37	c.447	CCDS10433.1	16																																																																																			UBE2I	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD		0.522	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	HGNC	protein_coding	OTTHUMT00000250317.2	A	NM_003345		1374764	1	no_errors	ENST00000325437	ensembl	human	known	70_37	silent	SNP	1.000	G	G	1374764	A	G	1374764	2	3	131	1	0	0	0	0	0	0	0	1	16890	291	11	5		5	UBE2I	16	1374764	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	559068	1374764	88979989	1565	21705										
CCNF	899	genome.wustl.edu	37	chr16	2499869	2499869	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtgggacctcaccggattCtcctatgaagacctcattcc	8	14	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:2499869C>A	ENST00000397066.4	+	13	1528	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	RP11-715J22.3_ENST00000561653.1_RNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	480					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCACCGGATTCTCCTATGAAG	0.612																																																	0													147	136	140					16																	2499869		2198	4300	6498	SO:0001583	missense	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1440C>A	16.37:g.2499869C>A	ENSP00000380256:p.Phe480Leu		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.F480L	ENST00000397066.4	37	c.1440	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085545	0.36758	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.21361	2.01	5.2	5.2	0.72013	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.49513	1.565	0.80722	D	1	P	0.36599	0.56	B	0.37480	0.251	T	0.01982	-1.1235	10	0.41790	T	0.15	-35.9445	15.4697	0.75432	0.0:1.0:0.0:0.0	.	480	P41002	CCNF_HUMAN	L	480;395	ENSP00000380256:F480L	ENSP00000293968:F395L	F	+	3	2	CCNF	2439870	1.000000	0.71417	0.997000	0.53966	0.276000	0.26787	2.914000	0.48797	2.434000	0.82447	0.462000	0.41574	TTC	CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like		0.612	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	C	NM_001761		2499869	1	no_errors	ENST00000397066	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2499869	C	A	2499869	3	1	131	1	0	0	0	0	1	0	0	0	2927	912	32	3	1490	3	CCNF	16	2499869	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1125105	2499869	87854884	1566	21706										
PDPK1	5170	genome.wustl.edu	37	chr16	2647264	2647264	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccaagaattttaaaactttCtttgtccacacggtgagtct	7	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:2647264C>A	ENST00000342085.4	+	13	1691	c.1542C>A	c.(1540-1542)ttC>ttA	p.F514L	CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000268673.7_Missense_Mutation_p.F387L|PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000389224.3_Missense_Mutation_p.F487L|PDPK1_ENST00000354836.5_Missense_Mutation_p.F490L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	514	PH.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TTAAAACTTTCTTTGTCCACA	0.483																																																	0													80	81	81					16																	2647264		2198	4300	6498	SO:0001583	missense	5170			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"PkB kinase"	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1542C>A	16.37:g.2647264C>A	ENSP00000344220:p.Phe514Leu		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F514L	ENST00000342085.4	37	c.1542	CCDS10472.1	16	.	.	.	.	.	.	.	.	.	.	-	18.55	3.648099	0.67358	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.01	2.91	0.33838	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.98;0.99	T	0.74140	-0.3761	10	0.87932	D	0	-27.1403	4.9093	0.13814	0.0:0.6309:0.0:0.3691	.	387;514	O15530-4;O15530	.;PDPK1_HUMAN	L	514;387;490;487	ENSP00000344220:F514L;ENSP00000268673:F387L;ENSP00000346895:F490L;ENSP00000373876:F487L	ENSP00000268673:F387L	F	+	3	2	PDPK1	2587265	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.964000	0.40462	1.335000	0.45486	0.655000	0.94253	TTC	PDPK1	-	NULL		0.483	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	C			2647264	1	no_errors	ENST00000342085	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2647264	C	A	2647264	3	1	131	1	0	0	0	0	1	0	0	0	11711	912	32	3	1592	3	PDPK1	16	2647264	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	147395	2647264	87707489	1567	21707										
MEFV	4210	genome.wustl.edu	37	chr16	3304167	3304167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacaatttaccggtgaccgAatgttctggatttccagggc	10	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:3304167A>C	ENST00000219596.1	-	2	940	c.901T>G	c.(901-903)Tcg>Gcg	p.S301A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	301					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ccggtgacCGAATGTTCTGGA	0.557																																																	0													49	52	51					16																	3304167		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.901T>G	16.37:g.3304167A>C	ENSP00000219596:p.Ser301Ala		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.S301A	ENST00000219596.1	37	c.901	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	A	6.857	0.527426	0.13066	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70516	-0.49	3.8	1.58	0.23477	.	0.666573	0.12604	N	0.454461	T	0.52581	0.1743	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33163	-0.9879	10	0.23302	T	0.38	.	5.3485	0.16022	0.7673:0.0:0.2327:0.0	.	301	O15553	MEFV_HUMAN	A	301	ENSP00000219596:S301A	ENSP00000219596:S301A	S	-	1	0	MEFV	3244168	0.002000	0.14202	0.001000	0.08648	0.016000	0.09150	0.553000	0.23391	0.315000	0.23110	-0.250000	0.11733	TCG	MEFV	-	NULL		0.557	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	A	NM_000243		3304167	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.001	C	C	3304167	A	C	3304167	3	2	131	1	0	0	0	0	1	0	0	0	9482	246	9	5	1480	5	MEFV	16	3304167	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	656903	3304167	87050586	1568	21708										
CREBBP	1387	genome.wustl.edu	37	chr16	3900884	3900884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcctcctcgtagaagctccGacagttgtttatgtttggaa	10	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:3900884G>A	ENST00000262367.5	-	2	1021	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S71L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	71					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TAGAAGCTCCGACAGTTGTTT	0.522			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													73	70	71					16																	3900884		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.212C>T	16.37:g.3900884G>A	ENSP00000262367:p.Ser71Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S71L	ENST00000262367.5	37	c.212	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382175	0.82792	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87179	-2.01;-2.22	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	D	0.93403	0.7896	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.93234	0.6620	10	0.72032	D	0.01	-16.9043	20.2084	0.98285	0.0:0.0:1.0:0.0	.	139;71	Q4LE28;Q92793	.;CBP_HUMAN	L	71;139;71	ENSP00000262367:S71L;ENSP00000371502:S71L	ENSP00000262367:S71L	S	-	2	0	CREBBP	3840885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.774000	0.95407	0.650000	0.86243	TCG	CREBBP	-	NULL		0.522	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900884	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3900884	G	A	3900884	3	1	131	1	0	0	0	0	1	0	0	0	3866	1059	37	1	7236	1	CREBBP	16	3900884	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	596717	3900884	86453869	1569	21709										
ADCY9	115	genome.wustl.edu	37	chr16	4015835	4015835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcttcttctattcctgtttCgtcacagtcgtctttctcta	6	12	5	0	rs374081146		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:4015835C>T	ENST00000294016.3	-	11	4541	c.4003G>A	c.(4003-4005)Gaa>Aaa	p.E1335K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1335					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTCCTGTTTCGTCACAGTCG	0.552																																																	0								C	LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	197	183	187		4003	5.5	0.5	16		187	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	56	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	1335/1354	4015835	1,12993	2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.4003G>A	16.37:g.4015835C>T	ENSP00000294016:p.Glu1335Lys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E1335K	ENST00000294016.3	37	c.4003	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993856	0.35131	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83506	-1.73	5.53	5.53	0.82687	.	0.526339	0.19609	N	0.110188	T	0.73133	0.3548	L	0.27053	0.805	0.40897	D	0.984128	P	0.36483	0.555	B	0.23716	0.048	T	0.73649	-0.3916	10	0.36615	T	0.2	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	1335	O60503	ADCY9_HUMAN	K	1335	ENSP00000294016:E1335K	ENSP00000294016:E1335K	E	-	1	0	ADCY9	3955836	0.899000	0.30636	0.472000	0.27241	0.021000	0.10359	3.381000	0.52455	2.769000	0.95229	0.655000	0.94253	GAA	ADCY9	-	NULL		0.552	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4015835	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	0.947	T	T	4015835	C	T	4015835	3	4	131	1	0	0	0	0	1	0	0	0	301	893	31	1	62	1	ADCY9	16	4015835	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	114951	4015835	86338918	1570	21710										
GLYR1	84656	genome.wustl.edu	37	chr16	4861208	4861208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatgggagtcggatggttgAccgcatcacccagcgcaatg	13	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:4861208A>C	ENST00000321919.9	-	15	1626	c.1550T>G	c.(1549-1551)gTc>gGc	p.V517G	GLYR1_ENST00000436648.5_Missense_Mutation_p.V436G|GLYR1_ENST00000591451.1_Missense_Mutation_p.V511G|GLYR1_ENST00000381983.3_Missense_Mutation_p.V500G	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	517					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGGATGGTTGACCGCATCACC	0.458																																																	0													133	124	127					16																	4861208		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1550T>G	16.37:g.4861208A>C	ENSP00000322716:p.Val517Gly		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.V517G	ENST00000321919.9	37	c.1550	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882446	0.33255	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.32023	1.47;1.47;1.47	5.72	5.72	0.89469	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.055471	0.64402	D	0.000001	T	0.31104	0.0786	M	0.64997	1.995	0.80722	D	1	B;P;B;P	0.41313	0.135;0.745;0.182;0.613	B;B;B;B	0.33121	0.049;0.158;0.071;0.099	T	0.23084	-1.0198	10	0.87932	D	0	-22.4547	14.971	0.71235	1.0:0.0:0.0:0.0	.	436;511;500;517	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	G	517;500;436	ENSP00000322716:V517G;ENSP00000371413:V500G;ENSP00000390276:V436G	ENSP00000322716:V517G	V	-	2	0	GLYR1	4801209	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.158000	0.71851	2.180000	0.69256	0.459000	0.35465	GTC	GLYR1	-	superfamily_6-PGluconate_DH_C-like		0.458	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	A	NM_032569		4861208	-1	no_errors	ENST00000321919	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4861208	A	C	4861208	3	2	131	1	0	0	0	0	1	0	0	0	6502	275	10	5	119	5	GLYR1	16	4861208	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	845373	4861208	85493545	1571	21711										
GRIN2A	2903	genome.wustl.edu	37	chr16	9858082	9858082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggggagcttgatttggtttTcaggtaggtgcgctcgacct	15	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:9858082T>C	ENST00000396573.2	-	14	3628	c.3319A>G	c.(3319-3321)Aaa>Gaa	p.K1107E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1107E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1107E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1107E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K950E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1107E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1107					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATTTGGTTTTCAGGTAGGTG	0.463																																																	0													148	142	144					16																	9858082		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3319A>G	16.37:g.9858082T>C	ENSP00000379818:p.Lys1107Glu		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K1107E	ENST00000396573.2	37	c.3319	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622464	0.66787	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13307	2.6;2.6;2.61;2.6;2.6	5.34	5.34	0.76211	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.089283	0.85682	D	0.000000	T	0.35098	0.0920	M	0.68317	2.08	0.58432	D	0.999994	P;P;D	0.69078	0.935;0.947;0.997	P;P;D	0.79108	0.679;0.726;0.992	T	0.03887	-1.0995	9	.	.	.	.	14.5082	0.67767	0.0:0.0:0.0:1.0	.	950;1107;1107	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	1107;1107;950;1107;1107	ENSP00000379818:K1107E;ENSP00000385872:K1107E;ENSP00000441572:K950E;ENSP00000332549:K1107E;ENSP00000379820:K1107E	.	K	-	1	0	GRIN2A	9765583	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.705000	0.68355	2.023000	0.59567	0.482000	0.46254	AAA	GRIN2A	-	pfam_NMDAR2_C		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	T			9858082	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9858082	T	C	9858082	3	2	131	1	0	0	0	0	1	0	0	0	6799	1792	62	5	1079	5	GRIN2A	16	9858082	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4996874	9858082	80496671	1572	21712										
TXNDC11	51061	genome.wustl.edu	37	chr16	11824515	11824515	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtacctcgtagtttgagaGaaaatctagtaattctgatt	8	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:11824515G>T	ENST00000356957.3	-	4	792	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	TXNDC11_ENST00000283033.5_Missense_Mutation_p.L229I			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	229					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAGTTTGAGAGAAAATCTAGT	0.408																																																	0													129	128	128					16																	11824515		2197	4300	6497	SO:0001583	missense	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.685C>A	16.37:g.11824515G>T	ENSP00000349439:p.Leu229Ile		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L229I	ENST00000356957.3	37	c.685		16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951764	0.73787	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.33865	1.39;1.39	4.73	4.73	0.59995	.	0.067945	0.56097	D	0.000023	T	0.51975	0.1706	M	0.65498	2.005	0.46149	D	0.998898	P;D	0.71674	0.803;0.998	P;D	0.65323	0.471;0.934	T	0.47420	-0.9119	10	0.35671	T	0.21	-20.898	10.4662	0.44609	0.0886:0.0:0.9114:0.0	.	229;229	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	I	229;229;172	ENSP00000349439:L229I;ENSP00000283033:L229I	ENSP00000283033:L229I	L	-	1	0	TXNDC11	11732016	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.439000	0.66556	2.443000	0.82685	0.467000	0.42956	CTC	TXNDC11	-	NULL		0.408	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	G	NM_015914		11824515	-1	no_errors	ENST00000356957	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11824515	G	T	11824515	3	4	131	1	0	0	0	0	1	0	0	0	16823	942	33	3	2227	3	TXNDC11	16	11824515	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1966433	11824515	78530238	1573	21713										
NDE1	54820	genome.wustl.edu	37	chr16	15788036	15788036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccaggcctggacgactccAccggggggacccccctcaca	11	19	1	0	rs140540712		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:15788036A>G	ENST00000396353.2	+	8	1544	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	NDE1_ENST00000342673.5_Missense_Mutation_p.T240A|NDE1_ENST00000396354.1_Missense_Mutation_p.T240A|NDE1_ENST00000396355.1_Missense_Mutation_p.T240A			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	240	Interaction with CENPF. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGACGACTCCACCGGGGGGAC	0.572																																																	0								A	ALA/THR,ALA/THR	3,4391	6.2+/-15.9	0,3,2194	45	38	41		718,718	-0.6	0	16	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense	NDE1	NM_001143979.1,NM_017668.2	58,58	0,3,6494	GG,GA,AA		0.0,0.0683,0.0231	benign,benign	240/336,240/336	15788036	3,12991	2197	4300	6497	SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.718A>G	16.37:g.15788036A>G	ENSP00000379641:p.Thr240Ala		Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.T240A	ENST00000396353.2	37	c.718		16	.	.	.	.	.	.	.	.	.	.	A	7.181	0.589625	0.13812	6.83E-4	0.0	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.15	-0.652	0.11450	NUDE protein, C-terminal (1);	0.697129	0.15218	N	0.274080	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20371	-1.0277	9	0.12766	T	0.61	-29.5309	4.2571	0.10722	0.2833:0.0:0.2064:0.5104	.	240;240	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	A	240	.	ENSP00000345892:T240A	T	+	1	0	NDE1	15695537	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.087000	0.14958	0.043000	0.15746	0.482000	0.46254	ACC	NDE1	-	pfam_NUDE_C		0.572	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		A	NM_017668		15788036	1	no_errors	ENST00000396353	ensembl	human	known	70_37	missense	SNP	0.000	G	G	15788036	A	G	15788036	3	3	131	1	0	0	0	0	1	0	0	0	10267	159	6	5	740	5	NDE1	16	15788036	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3963521	15788036	74566717	1574	21714										
TMC7	79905	genome.wustl.edu	37	chr16	19049365	19049365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctcgcaagagcacatgaAaaaggtaaattaacttgtac	7	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:19049365A>C	ENST00000304381.5	+	8	1305	c.1175A>C	c.(1174-1176)aAa>aCa	p.K392T	TMC7_ENST00000421369.3_Missense_Mutation_p.K282T|TMC7_ENST00000569532.1_Missense_Mutation_p.K392T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	392					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGCACATGAAAAAGGTAAAT	0.383																																																	0													152	132	139					16																	19049365		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1175A>C	16.37:g.19049365A>C	ENSP00000304710:p.Lys392Thr		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.K392T	ENST00000304381.5	37	c.1175	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258117	0.23051	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.52526	0.66;0.66	5.5	5.5	0.81552	.	.	.	.	.	T	0.33498	0.0865	L	0.27053	0.805	0.32417	N	0.549834	B;B	0.20887	0.049;0.013	B;B	0.20184	0.028;0.017	T	0.38757	-0.9646	9	0.23302	T	0.38	.	9.7942	0.40724	0.8272:0.1728:0.0:0.0	.	392;392	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	392;282	ENSP00000304710:K392T;ENSP00000397081:K282T	ENSP00000304710:K392T	K	+	2	0	TMC7	18956866	0.991000	0.36638	0.999000	0.59377	0.591000	0.36615	3.125000	0.50469	2.094000	0.63399	0.528000	0.53228	AAA	TMC7	-	NULL		0.383	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	A	NM_024847		19049365	1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	0.988	C	C	19049365	A	C	19049365	3	2	131	1	0	0	0	0	1	0	0	0	16020	14	1	5	1205	5	TMC7	16	19049365	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	3261329	19049365	71305388	1575	21715										
DCUN1D3	123879	genome.wustl.edu	37	chr16	20871284	20871284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttccccttctcttttccttCgctccatttcccactccaca	1	20	1	0	rs142074017		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:20871284C>T	ENST00000324344.4	-	3	1124	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.R280Q|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	280					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TCTTTTCCTTCGCTCCATTTC	0.557																																																	0								C	GLN/ARG	0,4402		0,0,2201	70	62	65		839	6.1	1	16	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCUN1D3	NM_173475.2	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	280/305	20871284	1,13001	2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.839G>A	16.37:g.20871284C>T	ENSP00000319482:p.Arg280Gln		B3KVY4	Missense_Mutation	SNP	pfam_PONY_dom	p.R280Q	ENST00000324344.4	37	c.839	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460450	0.63401	0.0	1.16E-4	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	.	0.113545	0.64402	D	0.000015	T	0.44561	0.1299	L	0.39085	1.19	0.50813	D	0.999897	B	0.25486	0.127	B	0.10450	0.005	T	0.33497	-0.9866	9	0.09338	T	0.73	-24.4653	14.7703	0.69671	0.0:0.9316:0.0:0.0684	.	280	Q8IWE4	DCNL3_HUMAN	Q	280	.	ENSP00000319482:R280Q	R	-	2	0	DCUN1D3	20778785	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	3.289000	0.51747	2.894000	0.99253	0.655000	0.94253	CGA	DCUN1D3	-	NULL		0.557	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	C	NM_173475		20871284	-1	no_errors	ENST00000324344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20871284	C	T	20871284	3	4	131	1	0	0	0	0	1	0	0	0	4320	884	31	1	79	1	DCUN1D3	16	20871284	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1821919	20871284	69483469	1576	21716										
DNAH3	55567	genome.wustl.edu	37	chr16	20981115	20981115	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggtggggtggcacttaccGgagccactggggtctggctt	18	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:20981115G>A	ENST00000261383.3	-	52	8456	c.8457C>T	c.(8455-8457)tcC>tcT	p.S2819S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2819	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCACTTACCGGAGCCACTGG	0.607																																																	0													95	91	92					16																	20981115		2201	4300	6501	SO:0001630	splice_region_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8458+1C>T	16.37:g.20981115G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.S2819	ENST00000261383.3	37	c.8457	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.607	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539	Silent	20981115	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.110	A	A	20981115	G	A	20981115	5	1	131	1	0	0	0	0	0	0	1	0	4613	1130	39	2	3936	2	DNAH3	16	20981115	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	109831	20981115	69373638	1577	21717										
DNAH3	55567	genome.wustl.edu	37	chr16	21086767	21086767	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcggttgcagtgagactcaCagtgtccctgtatttcacga	11	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:21086767C>T	ENST00000261383.3	-	21	3084		c.e21+1		DNAH3_ENST00000415178.1_Splice_Site	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGAGACTCACAGTGTCCCTG	0.443																																																	0													120	107	111					16																	21086767		2201	4300	6501	SO:0001630	splice_region_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3084+1G>A	16.37:g.21086767C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Splice_Site	SNP	-	e21+1	ENST00000261383.3	37	c.3084+1	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.195878	0.94960	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH3	20994268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.177000	0.77650	2.850000	0.98022	0.650000	0.86243	.	DNAH3	-	-		0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539	Intron	21086767	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	21086767	C	T	21086767	5	4	131	1	0	0	0	0	0	0	1	0	4613	492	17	4	9432	4	DNAH3	16	21086767	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	105652	21086767	69267986	1578	21718										
PDZD9	255762	genome.wustl.edu	37	chr16	21995716	21995716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcttgcttcaccattatccAgtatggagaaggggccctca	10	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:21995716A>G	ENST00000424898.2	-	4	729	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R	PDZD9_ENST00000286143.6_Missense_Mutation_p.W161R|PDZD9_ENST00000537222.2_Missense_Mutation_p.W163R			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	223										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ACCATTATCCAGTATGGAGAA	0.428																																																	0													266	251	256					16																	21995716		2198	4300	6498	SO:0001583	missense	255762			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 65"	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.667T>C	16.37:g.21995716A>G	ENSP00000400514:p.Trp223Arg		F5GWW8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.W223R	ENST00000424898.2	37	c.667		16	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818565	0.71028	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.69806	-0.43	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000034	T	0.79131	0.4394	M	0.66939	2.045	0.40531	D	0.980935	D	0.89917	1.0	D	0.91635	0.999	T	0.81944	-0.0701	10	0.87932	D	0	-5.6498	11.8674	0.52501	1.0:0.0:0.0:0.0	.	161	Q8IXQ8-2	.	R	223;163;161	ENSP00000400514:W223R	ENSP00000286143:W161R	W	-	1	0	PDZD9	21903217	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.222000	0.65277	2.056000	0.61249	0.460000	0.39030	TGG	PDZD9	-	NULL		0.428	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1	A	NM_173806		21995716	-1	no_errors	ENST00000424898	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21995716	A	G	21995716	3	3	131	1	0	0	0	0	1	0	0	0	11730	188	7	5	131	5	PDZD9	16	21995716	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	908949	21995716	68359037	1579	21719										
USP31	57478	genome.wustl.edu	37	chr16	23117742	23117742	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtattgcgcttgaaagagttCttgtacaaaagtgctacaga	10	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:23117742C>A	ENST00000219689.7	-	3	837	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	211	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGAAAGAGTTCTTGTACAAAA	0.393																																																	0													79	72	74					16																	23117742		2197	4300	6497	SO:0001587	stop_gained	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.838G>T	16.37:g.23117742C>A	ENSP00000219689:p.Glu280*		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E280*	ENST00000219689.7	37	c.838	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.198221	0.97367	.	.	ENSG00000103404	ENST00000219689	.	.	.	5.5	5.5	0.81552	.	0.060510	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.2333	18.7494	0.91807	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000219689:E280X	E	-	1	0	USP31	23025243	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.582000	0.67477	2.743000	0.94032	0.643000	0.83706	GAA	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.393	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	C	NM_020718		23117742	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	23117742	C	A	23117742	4	1	131	1	0	0	0	0	0	1	0	0	17093	922	32	3	3276	3	USP31	16	23117742	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1122026	23117742	67237011	1580	21720										
LCMT1	51451	genome.wustl.edu	37	chr16	25162906	25162906	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccctatccagccccattctaGaactgcattcagaggacaca	6	15	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:25162906G>T	ENST00000399069.3	+	5	591	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	LCMT1_ENST00000380966.4_Intron|RP11-266L9.2_ENST00000562280.1_RNA|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	146					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CCCCATTCTAGAACTGCATTC	0.433																																					Colon(200;565 2072 24396 47922 50898)												0													85	82	83					16																	25162906		1910	4121	6031	SO:0001587	stop_gained	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.436G>T	16.37:g.25162906G>T	ENSP00000382021:p.Glu146*		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Nonsense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.E146*	ENST00000399069.3	37	c.436	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.829264	0.96996	.	.	ENSG00000205629	ENST00000399069;ENST00000380962	.	.	.	4.71	3.75	0.43078	.	0.149366	0.64402	D	0.000011	.	.	.	.	.	.	0.29869	N	0.826988	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-12.2776	9.0452	0.36343	0.1006:0.0:0.8994:0.0	.	.	.	.	X	146;163	.	ENSP00000370349:E163X	E	+	1	0	LCMT1	25070407	0.998000	0.40836	0.073000	0.20177	0.686000	0.39977	5.136000	0.64783	1.333000	0.45449	0.561000	0.74099	GAA	LCMT1	-	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1		0.433	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25162906	1	no_errors	ENST00000399069	ensembl	human	known	70_37	nonsense	SNP	0.073	T	T	25162906	G	T	25162906	4	4	131	1	0	0	0	0	0	1	0	0	8698	943	33	3	454	3	LCMT1	16	25162906	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2045164	25162906	65191847	1581	21721										
IL4R	3566	genome.wustl.edu	37	chr16	27373632	27373632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctggagcacaacatgaaaaGggatgaagatcctcacaagg	11	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:27373632G>T	ENST00000395762.2	+	11	1218	c.959G>T	c.(958-960)aGg>aTg	p.R320M	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.R320M|IL4R_ENST00000170630.2_Missense_Mutation_p.R320M|IL4R_ENST00000380922.3_Missense_Mutation_p.R305M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	320					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AACATGAAAAGGGATGAAGAT	0.493																																																	0													94	101	99					16																	27373632		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.959G>T	16.37:g.27373632G>T	ENSP00000379111:p.Arg320Met		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R320M	ENST00000395762.2	37	c.959	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019300	0.54576	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.8	-9.26	0.00662	.	0.547917	0.16574	N	0.208504	T	0.11537	0.0281	L	0.51422	1.61	0.09310	N	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.51355	0.667;0.667;0.667	T	0.01697	-1.1293	10	0.52906	T	0.07	-34.6043	9.9803	0.41809	0.6873:0.0:0.206:0.1066	.	305;320;320	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	M	320;320;305;320	ENSP00000379111:R320M;ENSP00000441667:R320M;ENSP00000370309:R305M;ENSP00000170630:R320M	ENSP00000170630:R320M	R	+	2	0	IL4R	27281133	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.994000	0.01474	-1.595000	0.01613	-0.140000	0.14226	AGG	IL4R	-	NULL		0.493	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	G			27373632	1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.000	T	T	27373632	G	T	27373632	3	4	131	1	0	0	0	0	1	0	0	0	7718	1000	35	4	1011	4	IL4R	16	27373632	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2210726	27373632	62981121	1582	21722										
ITGAL	3683	genome.wustl.edu	37	chr16	30495257	30495257	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaacatcgatgcggccaaaGacatcatccgctacatcatc	7	14	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:30495257G>T	ENST00000356798.6	+	8	1012	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	ITGAL_ENST00000358164.5_Missense_Mutation_p.D195Y|ITGAL_ENST00000433423.2_Intron|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	278	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGCGGCCAAAGACATCATCCG	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)												0													186	162	170					16																	30495257		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.832G>T	16.37:g.30495257G>T	ENSP00000349252:p.Asp278Tyr		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.D278Y	ENST00000356798.6	37	c.832	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848900	0.71603	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.24151	1.87;1.87	5.97	2.82	0.32997	von Willebrand factor, type A (3);	0.256528	0.27668	N	0.018342	T	0.35248	0.0925	M	0.79926	2.475	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.48488	0.579;0.579	T	0.29274	-1.0017	10	0.72032	D	0.01	.	7.3219	0.26531	0.1658:0.1538:0.6803:0.0	.	195;278	Q96HB1;P20701	.;ITAL_HUMAN	Y	278;195	ENSP00000349252:D278Y;ENSP00000350886:D195Y	ENSP00000349252:D278Y	D	+	1	0	ITGAL	30402758	0.647000	0.27304	0.997000	0.53966	0.964000	0.63967	0.851000	0.27751	1.540000	0.49301	0.591000	0.81541	GAC	ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	G			30495257	1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.988	T	T	30495257	G	T	30495257	3	4	131	1	0	0	0	0	1	0	0	0	7906	942	33	3	862	3	ITGAL	16	30495257	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3121625	30495257	59859496	1583	21723										
SRCAP	10847	genome.wustl.edu	37	chr16	30724941	30724941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccatgtcttccagtctcatcGcgagttcaaggagtggttct	10	11	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:30724941G>A	ENST00000262518.4	+	16	2787	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	SRCAP_ENST00000395059.2_Missense_Mutation_p.R801H|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.R801H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	801					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R801H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGTCTCATCGCGAGTTCAAG	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											190	167	175					16																	30724941		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2402G>A	16.37:g.30724941G>A	ENSP00000262518:p.Arg801His		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R801H	ENST00000262518.4	37	c.2402	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764112	0.69878	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93307	-3.2;-3.2;-3.2	5.54	5.54	0.83059	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.56097	D	0.000025	D	0.94817	0.8326	L	0.33189	0.99	0.80722	D	1	D;D;D	0.89917	0.965;1.0;1.0	P;D;D	0.91635	0.661;0.999;0.999	D	0.95030	0.8168	10	0.66056	D	0.02	-8.1585	18.4191	0.90582	0.0:0.0:1.0:0.0	.	801;801;801	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	H	801	ENSP00000262518:R801H;ENSP00000378499:R801H;ENSP00000343042:R801H	ENSP00000262518:R801H	R	+	2	0	SRCAP	30632442	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	3.758000	0.55220	2.884000	0.98904	0.655000	0.94253	CGC	SRCAP	-	pfam_SNF2_N,smart_Helicase_ATP-bd		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30724941	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30724941	G	A	30724941	3	1	131	1	0	0	0	0	1	0	0	0	15165	1087	38	2	2456	2	SRCAP	16	30724941	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	229684	30724941	59629812	1584	21724										
SRCAP	10847	genome.wustl.edu	37	chr16	30735135	30735135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccccatctcagcccccttgActgtttctgcttcgggccca	7	18	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:30735135A>C	ENST00000262518.4	+	25	4775	c.4390A>C	c.(4390-4392)Act>Cct	p.T1464P	SRCAP_ENST00000395059.2_Missense_Mutation_p.T1402P|SRCAP_ENST00000344771.4_Missense_Mutation_p.T1306P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1464	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCCCCTTGACTGTTTCTGC	0.597																																																	0													218	184	195					16																	30735135		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4390A>C	16.37:g.30735135A>C	ENSP00000262518:p.Thr1464Pro		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.T1464P	ENST00000262518.4	37	c.4390	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668540	0.14776	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90788	-2.69;-2.72;-2.73	5.93	5.93	0.95920	.	0.114107	0.40302	N	0.001134	T	0.73305	0.3570	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.58120	-0.7692	10	0.02654	T	1	-7.7503	10.1853	0.42993	0.1541:0.6976:0.1483:0.0	.	1306;1402;1464	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	P	1464;1402;1306	ENSP00000262518:T1464P;ENSP00000378499:T1402P;ENSP00000343042:T1306P	ENSP00000262518:T1464P	T	+	1	0	SRCAP	30642636	0.000000	0.05858	0.999000	0.59377	0.783000	0.44284	0.282000	0.18829	1.531000	0.49152	-0.224000	0.12420	ACT	SRCAP	-	NULL		0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	A	NM_006662		30735135	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.891	C	C	30735135	A	C	30735135	3	2	131	1	0	0	0	0	1	0	0	0	15165	275	10	5	4480	5	SRCAP	16	30735135	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	10194	30735135	59619618	1585	21725										
ARMC5	79798	genome.wustl.edu	37	chr16	31474058	31474058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtggctgcccttgtggggtTtctgtatgacactggggccc	15	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:31474058T>G	ENST00000563544.1	+	4	1736	c.1190T>G	c.(1189-1191)tTt>tGt	p.F397C	ARMC5_ENST00000457010.2_Missense_Mutation_p.F397C|ARMC5_ENST00000408912.3_Missense_Mutation_p.F492C|ARMC5_ENST00000268314.4_Missense_Mutation_p.F397C|ARMC5_ENST00000538189.1_Missense_Mutation_p.F429C|ARMC5_ENST00000412665.2_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	397										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTTGTGGGGTTTCTGTATGAC	0.637																																																	0													47	53	51					16																	31474058		1975	4175	6150	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1190T>G	16.37:g.31474058T>G	ENSP00000456877:p.Phe397Cys		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.F492C	ENST00000563544.1	37	c.1475	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	t	18.16	3.562939	0.65538	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.47528	1.57;1.59;1.6;0.84	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.65421	-0.6172	10	0.56958	D	0.05	-5.2877	12.4239	0.55536	0.0:0.0:0.0:1.0	.	429;492;397;397	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	C	492;429;397;397	ENSP00000386125:F492C;ENSP00000443995:F429C;ENSP00000268314:F397C;ENSP00000399561:F397C	ENSP00000268314:F397C	F	+	2	0	ARMC5	31381559	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.389000	0.73199	1.826000	0.53198	0.375000	0.23000	TTT	ARMC5	-	superfamily_ARM-type_fold,smart_Armadillo		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	T	NM_024742		31474058	1	no_errors	ENST00000408912	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31474058	T	G	31474058	3	3	131	1	0	0	0	0	1	0	0	0	955	1841	64	5	1200	5	ARMC5	16	31474058	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	738923	31474058	58880695	1586	21726										
SLC5A2	6524	genome.wustl.edu	37	chr16	31500280	31500280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacagggcgggcagctcttcGattacatccaggcagtctct	11	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:31500280G>A	ENST00000330498.3	+	11	1379	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	454					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCTCTTCGATTACATCCA	0.662																																																	0													50	46	48					16																	31500280		2197	4299	6496	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1360G>A	16.37:g.31500280G>A	ENSP00000327943:p.Asp454Asn		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D454N	ENST00000330498.3	37	c.1360	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762546	0.89932	.	.	ENSG00000140675	ENST00000330498	D	0.88046	-2.33	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85670	0.1294	10	0.15952	T	0.53	.	15.5974	0.76595	0.0:0.0:1.0:0.0	.	454	P31639	SC5A2_HUMAN	N	454	ENSP00000327943:D454N	ENSP00000327943:D454N	D	+	1	0	SLC5A2	31407781	0.999000	0.42202	0.939000	0.37840	0.948000	0.59901	4.702000	0.61817	2.549000	0.85964	0.561000	0.74099	GAT	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	G			31500280	1	no_errors	ENST00000330498	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31500280	G	A	31500280	3	1	131	1	0	0	0	0	1	0	0	0	14695	1058	37	1	1402	1	SLC5A2	16	31500280	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	26222	31500280	58854473	1587	21727										
MYLK3	91807	genome.wustl.edu	37	chr16	46766398	46766398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggagagctctctggctcctTcaggggtctgttctccgggc	15	12	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:46766398T>G	ENST00000394809.4	-	4	1299	c.1184A>C	c.(1183-1185)gAa>gCa	p.E395A	MYLK3_ENST00000536476.1_Missense_Mutation_p.E54A	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	395					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTGGCTCCTTCAGGGGTCTG	0.697																																																	0													30	34	33					16																	46766398		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1184A>C	16.37:g.46766398T>G	ENSP00000378288:p.Glu395Ala		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	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.E395A	ENST00000394809.4	37	c.1184	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701260	0.30142	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.67698	-0.28;-0.28	4.86	-1.49	0.08718	.	1.650860	0.03945	N	0.287599	T	0.45478	0.1344	N	0.14661	0.345	0.09310	N	1	B;B	0.29716	0.081;0.255	B;B	0.22152	0.01;0.038	T	0.20672	-1.0268	10	0.15499	T	0.54	.	9.137	0.36879	0.0:0.5466:0.0:0.4534	.	395;395	B5BUL9;Q32MK0	.;MYLK3_HUMAN	A	395;54	ENSP00000378288:E395A;ENSP00000439297:E54A	ENSP00000378288:E395A	E	-	2	0	MYLK3	45323899	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.028000	0.12350	-0.331000	0.08501	0.533000	0.62120	GAA	MYLK3	-	NULL		0.697	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	T	NM_182493		46766398	-1	no_errors	ENST00000394809	ensembl	human	known	70_37	missense	SNP	0.000	G	G	46766398	T	G	46766398	3	3	131	1	0	0	0	0	1	0	0	0	10081	1783	62	5	1315	5	MYLK3	16	46766398	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	15266118	46766398	43588355	1588	21728										
BRD7	29117	genome.wustl.edu	37	chr16	50353864	50353864	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaaatccccattgcttttcGaactccatacgtgcttacga	7	12	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:50353864G>A	ENST00000394688.3	-	16	1993	c.1834C>T	c.(1834-1836)Cga>Tga	p.R612*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.R613*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	612					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R612*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATTGCTTTTCGAACTCCATAC	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											104	91	96					16																	50353864		2198	4300	6498	SO:0001587	stop_gained	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1834C>T	16.37:g.50353864G>A	ENSP00000378180:p.Arg612*		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R613*	ENST00000394688.3	37	c.1837	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.258548	0.99117	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9653	20.3241	0.98686	0.0:0.0:1.0:0.0	.	.	.	.	X	612;613	.	ENSP00000378180:R612X	R	-	1	2	BRD7	48911365	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.385000	0.59613	2.798000	0.96311	0.557000	0.71058	CGA	BRD7	-	NULL		0.418	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	G	NM_013263		50353864	-1	no_errors	ENST00000394689	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	50353864	G	A	50353864	4	1	131	1	0	0	0	0	0	1	0	0	1508	1066	37	1	129	1	BRD7	16	50353864	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3587466	50353864	40000889	1589	21729										
LPCAT2	54947	genome.wustl.edu	37	chr16	55562474	55562474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttaccttctatggtatctcGaaatgagaatgcacaagtcc	8	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:55562474G>A	ENST00000262134.5	+	3	681	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	166					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ATGGTATCTCGAAATGAGAAT	0.378																																																	0													171	155	160					16																	55562474		2198	4300	6498	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.497G>A	16.37:g.55562474G>A	ENSP00000262134:p.Arg166Gln		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.R166Q	ENST00000262134.5	37	c.497	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972931	0.74246	.	.	ENSG00000087253	ENST00000262134	D	0.93247	-3.19	5.8	5.8	0.92144	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	M	0.74881	2.28	0.58432	D	0.999996	P	0.47253	0.892	P	0.45913	0.497	D	0.91668	0.5348	10	0.15066	T	0.55	-6.0514	20.0553	0.97649	0.0:0.0:1.0:0.0	.	166	Q7L5N7	PCAT2_HUMAN	Q	166	ENSP00000262134:R166Q	ENSP00000262134:R166Q	R	+	2	0	LPCAT2	54119975	1.000000	0.71417	0.215000	0.23724	0.251000	0.25915	8.661000	0.91125	2.754000	0.94517	0.585000	0.79938	CGA	LPCAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.378	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	G	NM_017839		55562474	1	no_errors	ENST00000262134	ensembl	human	known	70_37	missense	SNP	0.670	A	A	55562474	G	A	55562474	3	1	131	1	0	0	0	0	1	0	0	0	8934	1058	37	1	507	1	LPCAT2	16	55562474	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	5208610	55562474	34792279	1590	21730										
MT1H	4496	genome.wustl.edu	37	chr16	56704827	56704827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggctgctgctcctgttgcCccctgggctgtgccaagtgt	13	14	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:56704827C>A	ENST00000332374.4	+	3	183	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	MT1G_ENST00000569500.1_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	38	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CTCCTGTTGCCCCCTGGGCTG	0.612																																																	0													120	112	114					16																	56704827		2198	4300	6498	SO:0001583	missense	4496			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.112C>A	16.37:g.56704827C>A	ENSP00000330587:p.Pro38Thr		B2RUY6	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.P38T	ENST00000332374.4	37	c.112	CCDS10767.1	16	.	.	.	.	.	.	.	.	.	.	C	3.588	-0.084141	0.07097	.	.	ENSG00000205358	ENST00000332374	T	0.26660	1.72	2.6	1.62	0.23740	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.083243	0.49305	U	0.000148	T	0.27169	0.0666	.	.	.	0.80722	D	1	B	0.24618	0.107	B	0.38296	0.27	T	0.09840	-1.0656	9	0.87932	D	0	-3.6794	6.9917	0.24759	0.0:0.8535:0.0:0.1465	.	38	P80294	MT1H_HUMAN	T	38	ENSP00000330587:P38T	ENSP00000330587:P38T	P	+	1	0	MT1H	55262328	1.000000	0.71417	0.788000	0.31933	0.012000	0.07955	3.587000	0.53957	0.194000	0.20326	-0.657000	0.03884	CCC	MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert		0.612	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	C	NM_005951		56704827	1	no_errors	ENST00000332374	ensembl	human	known	70_37	missense	SNP	0.967	A	A	56704827	C	A	56704827	3	1	131	1	0	0	0	0	1	0	0	0	9925	623	22	4	122	4	MT1H	16	56704827	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1142353	56704827	33649926	1591	21731										
NLRC5	84166	genome.wustl.edu	37	chr16	57063770	57063770	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacggctccggaagcttgagTaagtgatctttccactgcct	10	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:57063770T>G	ENST00000262510.6	+	9	2552		c.e9+2		NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000436936.1_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAGCTTGAGTAAGTGATCTT	0.577																																																	0													92	75	81					16																	57063770		2198	4300	6498	SO:0001630	splice_region_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2327+2T>G	16.37:g.57063770T>G			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	SNP	-	e7+2	ENST00000262510.6	37	c.2327+2	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554787	0.65425	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538805;ENST00000538110	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.326	0.49448	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRC5	55621271	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.863000	0.56016	1.930000	0.55929	0.460000	0.39030	.	NLRC5	-	-		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	T	NM_032206	Intron	57063770	1	no_errors	ENST00000262510	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	57063770	T	G	57063770	5	3	131	1	0	0	0	0	0	0	1	0	10494	1652	57	5	2355	5	NLRC5	16	57063770	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	358943	57063770	33290983	1592	21732										
CCL17	6361	genome.wustl.edu	37	chr16	57448995	57448995	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgctcctctccctgcagctCgagggaccaatgtgggccgg	13	16	1	0	rs369547686		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:57448995C>T	ENST00000219244.4	+	3	202	c.73C>T	c.(73-75)Cga>Tga	p.R25*		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	25					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CCCTGCAGCTCGAGGGACCAA	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		19170	0		0	False		,,,				2504	0																0								C	stop/ARG	1,4395	2.1+/-5.4	0,1,2197	92	93	93		73	3.9	0.6	16		93	0,8600		0,0,4300	no	stop-gained	CCL17	NM_002987.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		25/95	57448995	1,12995	2198	4300	6498	SO:0001587	stop_gained	6361			D43767	CCDS10780.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102970	ENSG00000102970		"Chemokine ligands", "Endogenous ligands"	10615	protein-coding gene	gene with protein product		601520	"small inducible cytokine subfamily A (Cys-Cys), member 17"	SCYA17		8702936, 9070951	Standard	NM_002987		Approved	TARC, ABCD-2	uc002elj.1	Q92583	OTTHUMG00000133468	ENST00000219244.4:c.73C>T	16.37:g.57448995C>T	ENSP00000219244:p.Arg25*		A0N0Q9|Q2M287	Nonsense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R25*	ENST00000219244.4	37	c.73	CCDS10780.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.400279	0.96030	2.27E-4	0.0	ENSG00000102970	ENST00000219244	.	.	.	4.95	3.93	0.45458	.	1.078830	0.07141	N	0.847253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	0.0026	9.7661	0.40561	0.2055:0.7945:0.0:0.0	.	.	.	.	X	25	.	ENSP00000219244:R25X	R	+	1	2	CCL17	56006496	0.517000	0.26226	0.647000	0.29507	0.618000	0.37518	0.694000	0.25512	2.302000	0.77476	0.561000	0.74099	CGA	CCL17	-	superfamily_Chemokine_IL8-like_dom		0.602	CCL17-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CCL17	HGNC	protein_coding	OTTHUMT00000257344.1	C	NM_002987		57448995	1	no_errors	ENST00000219244	ensembl	human	known	70_37	nonsense	SNP	0.969	T	T	57448995	C	T	57448995	4	4	131	1	0	0	0	0	0	1	0	0	2893	876	31	1	79	1	CCL17	16	57448995	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	385225	57448995	32905758	1593	21733										
CMTM2	146225	genome.wustl.edu	37	chr16	66620928	66620928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caacgacctgattgcttgtgCgttccttgtgggagccgtgg	14	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:66620928C>T	ENST00000268595.2	+	3	624	c.473C>T	c.(472-474)gCg>gTg	p.A158V	CMTM2_ENST00000379486.2_Missense_Mutation_p.A105V	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	158	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ATTGCTTGTGCGTTCCTTGTG	0.542																																																	0													237	180	200					16																	66620928		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.473C>T	16.37:g.66620928C>T	ENSP00000268595:p.Ala158Val		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	NULL	p.A158V	ENST00000268595.2	37	c.473	CCDS10814.1	16	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.991040	0.00439	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.38722	1.12;1.74	4.05	-8.1	0.01086	Marvel (1);	2.956890	0.01235	N	0.008461	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43893	-0.9363	10	0.02654	T	1	16.2094	10.7626	0.46274	0.0:0.3926:0.3751:0.2323	.	105;158	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	V	105;158	ENSP00000368800:A105V;ENSP00000268595:A158V	ENSP00000268595:A158V	A	+	2	0	CMTM2	65178429	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.713000	0.00386	-4.674000	0.00036	-0.997000	0.02515	GCG	CMTM2	-	NULL		0.542	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	C			66620928	1	no_errors	ENST00000268595	ensembl	human	known	70_37	missense	SNP	0.000	T	T	66620928	C	T	66620928	3	4	131	1	0	0	0	0	1	0	0	0	3588	768	27	2	483	2	CMTM2	16	66620928	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9171933	66620928	23733825	1594	21734										
HSF4	3299	genome.wustl.edu	37	chr16	67201667	67201667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaagagccggccagtccagGgggggatggcgaggccgggc	21	10	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67201667G>A	ENST00000521374.1	+	9	899	c.899G>A	c.(898-900)gGg>gAg	p.G300E	HSF4_ENST00000584272.1_Intron|HSF4_ENST00000264009.8_Missense_Mutation_p.G300E|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000421453.1_Intron|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	300	Interactions with DUSP26, MAPK1 and MAPK2.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCCAGTCCAGGGGGGGATGGC	0.652																																																	0													12	18	16					16																	67201667		1887	4093	5980	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.899G>A	16.37:g.67201667G>A	ENSP00000430947:p.Gly300Glu		Q99472|Q9ULV6	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.G300E	ENST00000521374.1	37	c.899	CCDS42175.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428719	0.83667	.	.	ENSG00000102878	ENST00000264009;ENST00000521374	.	.	.	4.98	4.98	0.66077	.	0.118040	0.56097	D	0.000023	T	0.42832	0.1220	L	0.27053	0.805	0.80722	D	1	B	0.33528	0.416	B	0.32533	0.147	T	0.30090	-0.9990	9	0.11485	T	0.65	-4.8945	15.7867	0.78310	0.0:0.0:1.0:0.0	.	300	Q9ULV5	HSF4_HUMAN	E	300	.	ENSP00000264009:G300E	G	+	2	0	HSF4	65759168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.115000	0.71566	2.586000	0.87340	0.561000	0.74099	GGG	HSF4	-	NULL		0.652	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	G	NM_001538		67201667	1	no_errors	ENST00000264009	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67201667	G	A	67201667	3	1	131	1	0	0	0	0	1	0	0	0	7418	1232	43	4	947	4	HSF4	16	67201667	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	580739	67201667	23153086	1595	21735										
FHOD1	29109	genome.wustl.edu	37	chr16	67268080	67268080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggctctggtgcaaggcttCgctgggcccggagcaggaca	17	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67268080C>T	ENST00000258201.4	-	13	1773	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	509	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCAAGGCTTCGCTGGGCCCG	0.642																																																	0													50	56	54					16																	67268080		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1526G>A	16.37:g.67268080C>T	ENSP00000258201:p.Arg509Gln		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R509Q	ENST00000258201.4	37	c.1526	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	1.381	-0.583386	0.03827	.	.	ENSG00000135723	ENST00000258201	T	0.36157	1.27	5.32	-5.64	0.02466	.	2.005710	0.01980	N	0.044711	T	0.21427	0.0516	N	0.24115	0.695	0.09310	N	1	B;B	0.15719	0.014;0.0	B;B	0.06405	0.002;0.0	T	0.15694	-1.0428	10	0.13470	T	0.59	.	8.3462	0.32275	0.1158:0.2183:0.0:0.6659	.	88;509	B4DVN5;Q9Y613	.;FHOD1_HUMAN	Q	509	ENSP00000258201:R509Q	ENSP00000258201:R509Q	R	-	2	0	FHOD1	65825581	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-2.585000	0.00903	-1.211000	0.02624	-0.215000	0.12644	CGA	FHOD1	-	NULL		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67268080	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.001	T	T	67268080	C	T	67268080	3	4	131	1	0	0	0	0	1	0	0	0	5900	884	31	1	2008	1	FHOD1	16	67268080	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	66413	67268080	23086673	1596	21736										
CTCF	10664	genome.wustl.edu	37	chr16	67670646	67670646	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgaggaggagcctgccgtaGaaattgaacctgagccagag	14	8	0	5	rs35257000	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67670646G>T	ENST00000264010.4	+	11	2335	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E303*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	631					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCTGCCGTAGAAATTGAACC	0.567																																					Colon(175;1200 1966 6945 23069 27405)												0													96	101	99					16																	67670646		2198	4300	6498	SO:0001587	stop_gained	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1891G>T	16.37:g.67670646G>T	ENSP00000264010:p.Glu631*		B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E631*	ENST00000264010.4	37	c.1891	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.831395	0.98513	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.0223	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	631;303	.	ENSP00000264010:E631X	E	+	1	0	CTCF	66228147	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.732000	0.62029	2.814000	0.96858	0.591000	0.81541	GAA	CTCF	-	NULL		0.567	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	G	NM_006565		67670646	1	no_errors	ENST00000264010	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67670646	G	T	67670646	4	4	131	1	0	0	0	0	0	1	0	0	4005	943	33	3	1925	3	CTCF	16	67670646	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	402566	67670646	22684107	1597	21737										
RLTPR	146206	genome.wustl.edu	37	chr16	67680824	67680824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgtggacaccatttaccatCgccagggctgccgccatttc	9	15	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67680824C>T	ENST00000334583.6	+	8	887	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	RLTPR_ENST00000545661.1_Missense_Mutation_p.R187C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	187					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CATTTACCATCGCCAGGGCTG	0.632																																																	0													28	30	29					16																	67680824		2030	4184	6214	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.559C>T	16.37:g.67680824C>T	ENSP00000334958:p.Arg187Cys		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R187C	ENST00000334583.6	37	c.559	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832613	0.50845	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.52754	0.65;0.65	5.06	2.94	0.34122	.	0.623087	0.16662	N	0.204725	T	0.39784	0.1091	N	0.14661	0.345	0.09310	N	1	P;D	0.71674	0.876;0.998	B;P	0.52672	0.153;0.706	T	0.17776	-1.0358	10	0.66056	D	0.02	-12.1794	9.7236	0.40317	0.2135:0.6517:0.1348:0.0	.	187;187	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	C	187	ENSP00000334958:R187C;ENSP00000441481:R187C	ENSP00000334958:R187C	R	+	1	0	RLTPR	66238325	0.000000	0.05858	0.763000	0.31416	0.815000	0.46073	-0.194000	0.09559	1.244000	0.43870	0.563000	0.77884	CGC	RLTPR	-	NULL		0.632	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	C	NM_001013838		67680824	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.046	T	T	67680824	C	T	67680824	3	4	131	1	0	0	0	0	1	0	0	0	13424	884	31	1	589	1	RLTPR	16	67680824	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	10178	67680824	22673929	1598	21738										
RLTPR	146206	genome.wustl.edu	37	chr16	67688120	67688120	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgagggcgtggaggaattCttctccaaaaggctgatcca	13	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67688120C>A	ENST00000334583.6	+	30	3517	c.3189C>A	c.(3187-3189)ttC>ttA	p.F1063L	RLTPR_ENST00000545661.1_Missense_Mutation_p.F1027L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1063					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGAGGAATTCTTCTCCAAAA	0.637																																																	0													31	34	33					16																	67688120		1948	4125	6073	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3189C>A	16.37:g.67688120C>A	ENSP00000334958:p.Phe1063Leu		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.F1063L	ENST00000334583.6	37	c.3189	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.121530	0.94385	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.57907	0.37;0.37	5.78	4.83	0.62350	.	0.000000	0.64402	D	0.000017	T	0.57373	0.2049	L	0.32530	0.975	0.49213	D	0.999761	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.883	T	0.60910	-0.7169	10	0.72032	D	0.01	-14.0682	11.7654	0.51928	0.0:0.918:0.0:0.082	.	1027;1063	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	L	1063;160;1027	ENSP00000334958:F1063L;ENSP00000441481:F1027L	ENSP00000334958:F1063L	F	+	3	2	RLTPR	66245621	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.570000	0.53834	1.447000	0.47661	0.563000	0.77884	TTC	RLTPR	-	NULL		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	C	NM_001013838		67688120	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67688120	C	A	67688120	3	1	131	1	0	0	0	0	1	0	0	0	13424	912	32	3	3307	3	RLTPR	16	67688120	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7296	67688120	22666633	1599	21739										
SLC12A4	6560	genome.wustl.edu	37	chr16	67995560	67995560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtgaggttggtgtagctgAcgagctttcccagaagagac	16	7	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67995560A>G	ENST00000316341.3	-	3	400	c.260T>C	c.(259-261)gTc>gCc	p.V87A	SLC12A4_ENST00000572037.1_Missense_Mutation_p.V39A|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V81A|SLC12A4_ENST00000422611.2_Missense_Mutation_p.V89A|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V56A|SLC12A4_ENST00000338335.3_Missense_Mutation_p.V87A|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V87A	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	87					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGTGTAGCTGACGAGCTTTCC	0.642																																																	0													109	98	102					16																	67995560		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.260T>C	16.37:g.67995560A>G	ENSP00000318557:p.Val87Ala		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.V89A	ENST00000316341.3	37	c.266	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	A	6.437	0.448766	0.12223	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.86562	-1.65;-1.61;-1.61;-2.14;-1.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	N	0.10733	0.035	0.58432	D	0.999999	B;B;B;B;B;B	0.09022	0.001;0.0;0.002;0.001;0.001;0.0	B;B;B;B;B;B	0.15052	0.002;0.001;0.012;0.001;0.001;0.001	T	0.69239	-0.5197	10	0.02654	T	1	.	16.1641	0.81743	1.0:0.0:0.0:0.0	.	89;87;56;81;87;87	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	A	89;56;81;87;87	ENSP00000395983:V89A;ENSP00000438334:V56A;ENSP00000445962:V81A;ENSP00000343374:V87A;ENSP00000318557:V87A	ENSP00000318557:V87A	V	-	2	0	SLC12A4	66553061	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.926000	0.40084	2.225000	0.72522	0.379000	0.24179	GTC	SLC12A4	-	tigrfam_Na/K/Cl_cotransptS		0.642	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	A	NM_005072		67995560	-1	no_errors	ENST00000422611	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67995560	A	G	67995560	3	3	131	1	0	0	0	0	1	0	0	0	14415	275	10	5	3085	5	SLC12A4	16	67995560	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	307440	67995560	22359193	1600	21740										
DDX28	55794	genome.wustl.edu	37	chr16	68055763	68055763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtgcagagaagtatgtctCgggagctcttctggaaggac	14	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:68055763C>T	ENST00000332395.5	-	1	2007	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	448	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AAGTATGTCTCGGGAGCTCTT	0.507																																																	0													71	69	70					16																	68055763		2198	4300	6498	SO:0001583	missense	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1343G>A	16.37:g.68055763C>T	ENSP00000332340:p.Arg448Gln			Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R448Q	ENST00000332395.5	37	c.1343	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038648	0.08148	.	.	ENSG00000182810	ENST00000332395	T	0.72051	-0.62	5.81	-2.74	0.05932	Helicase, C-terminal (3);	0.854495	0.10329	N	0.687865	T	0.47838	0.1467	N	0.20445	0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	10	0.30854	T	0.27	-0.5518	5.1679	0.15096	0.0969:0.22:0.096:0.5871	.	448	Q9NUL7	DDX28_HUMAN	Q	448	ENSP00000332340:R448Q	ENSP00000332340:R448Q	R	-	2	0	DDX28	66613264	0.000000	0.05858	0.806000	0.32338	0.895000	0.52256	-0.760000	0.04756	-0.365000	0.08076	-0.252000	0.11476	CGA	DDX28	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.507	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	C	NM_018380		68055763	-1	no_errors	ENST00000332395	ensembl	human	known	70_37	missense	SNP	0.000	T	T	68055763	C	T	68055763	3	4	131	1	0	0	0	0	1	0	0	0	4360	884	31	1	283	1	DDX28	16	68055763	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	60203	68055763	22298990	1601	21741										
TMCO7	79613	genome.wustl.edu	37	chr16	68953050	68953050	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcctggcccatcaggcagaGagcaccgtggaatcacagac	12	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:68953050G>T	ENST00000261778.1	+	12	2067	c.2055G>T	c.(2053-2055)gaG>gaT	p.E685D		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	685						integral component of membrane (GO:0016021)											ATCAGGCAGAGAGCACCGTGG	0.522																																																	0													82	79	80					16																	68953050		2133	4236	6369	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2055G>T	16.37:g.68953050G>T	ENSP00000261778:p.Glu685Asp		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.E685D	ENST00000261778.1	37	c.2055	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094727	0.08681	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.36	3.41	0.39046	Armadillo-type fold (1);	0.212097	0.46758	D	0.000272	T	0.27559	0.0677	L	0.54323	1.7	0.25408	N	0.988389	B	0.30741	0.293	B	0.22386	0.039	T	0.15065	-1.0450	9	0.13108	T	0.6	-22.671	3.0962	0.06311	0.1565:0.1708:0.5475:0.1253	.	685	Q9C0B7	TMCO7_HUMAN	D	685	.	ENSP00000261778:E685D	E	+	3	2	TMCO7	67510551	1.000000	0.71417	0.971000	0.41717	0.300000	0.27592	1.795000	0.38784	0.647000	0.30713	-0.880000	0.02959	GAG	TMCO7	-	superfamily_ARM-type_fold		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2		68953050	1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	0.908	T	T	68953050	G	T	68953050	3	4	131	1	0	0	0	0	1	0	0	0	16031	933	33	3	2101	3	TMCO7	16	68953050	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	897287	68953050	21401703	1602	21742										
WWP2	11060	genome.wustl.edu	37	chr16	69968006	69968006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggaccacctcacctactttCgctttataggcagattcatc	6	14	2	1	rs565065326		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:69968006C>T	ENST00000359154.2	+	17	1917	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	WWP2_ENST00000356003.2_Missense_Mutation_p.R606C|WWP2_ENST00000542271.1_Missense_Mutation_p.R490C|WWP2_ENST00000568684.1_Missense_Mutation_p.R167C|WWP2_ENST00000448661.1_Missense_Mutation_p.R606C|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	606	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCTACTTTCGCTTTATAGG	0.532																																																	0													107	107	107					16																	69968006		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1816C>T	16.37:g.69968006C>T	ENSP00000352069:p.Arg606Cys		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.R606C	ENST00000359154.2	37	c.1816	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923719	0.73213	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.69358	2.11	0.80722	D	1	P	0.37525	0.598	B	0.41088	0.347	T	0.59053	-0.7526	9	.	.	.	.	14.8523	0.70306	0.1436:0.8564:0.0:0.0	.	606	O00308	WWP2_HUMAN	C	606;167;606;606;493;490	ENSP00000352069:R606C;ENSP00000396871:R606C;ENSP00000348283:R606C;ENSP00000445616:R490C	.	R	+	1	0	WWP2	68525507	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.157000	0.50716	2.735000	0.93741	0.655000	0.94253	CGC	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.532	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	C	NM_007014		69968006	1	no_errors	ENST00000356003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69968006	C	T	69968006	3	4	131	1	0	0	0	0	1	0	0	0	17447	884	31	1	1882	1	WWP2	16	69968006	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1014956	69968006	20386747	1603	21743										
AARS	16	genome.wustl.edu	37	chr16	70302241	70302241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcattgagcttttcatggGcgtatcggacagctcggcgg	15	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:70302241G>A	ENST00000261772.8	-	8	1147	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CTTTTCATGGGCGTATCGGAC	0.507																																																	0													115	100	105					16																	70302241		2198	4300	6498	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1004C>T	16.37:g.70302241G>A	ENSP00000261772:p.Ala335Val			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc	p.A335V	ENST00000261772.8	37	c.1004	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917074	0.73098	.	.	ENSG00000090861	ENST00000261772	T	0.73047	-0.71	5.77	5.77	0.91146	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.203421	0.53938	D	0.000052	T	0.80253	0.4589	M	0.74467	2.265	0.47214	D	0.999352	B;B	0.27656	0.184;0.177	B;P	0.44518	0.239;0.452	T	0.77073	-0.2723	10	0.41790	T	0.15	-7.6595	17.5526	0.87880	0.0:0.0:1.0:0.0	.	343;335	E7ETK8;P49588	.;SYAC_HUMAN	V	335	ENSP00000261772:A335V	ENSP00000261772:A335V	A	-	2	0	AARS	68859742	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	9.827000	0.99397	2.732000	0.93576	0.650000	0.86243	GCC	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	G	NM_001605		70302241	-1	no_errors	ENST00000261772	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70302241	G	A	70302241	3	1	131	1	0	0	0	0	1	0	0	0	19	1203	42	4	1958	4	AARS	16	70302241	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	334235	70302241	20052512	1604	21744										
HYDIN	54768	genome.wustl.edu	37	chr16	70866947	70866947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taatggagaaatgaggctcaAattttttgatgtcccattta	8	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:70866947A>C	ENST00000393567.2	-	80	13853	c.13703T>G	c.(13702-13704)tTt>tGt	p.F4568C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4568					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGGCTCAAATTTTTTGAT	0.413																																																	0													14	14	14					16																	70866947		1810	4060	5870	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13703T>G	16.37:g.70866947A>C	ENSP00000377197:p.Phe4568Cys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.F4567C	ENST00000393567.2	37	c.13700	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265563	0.23136	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01043	5.41	4.62	0.654	0.17833	.	0.917403	0.08718	N	0.903854	T	0.01421	0.0046	L	0.32530	0.975	0.09310	N	0.999999	B	0.27498	0.18	B	0.29267	0.1	T	0.48758	-0.9007	10	0.34782	T	0.22	.	11.6001	0.50997	0.5645:0.4355:0.0:0.0	.	4567	F8WD23	.	C	4568;4567	ENSP00000377197:F4568C	ENSP00000313052:F4567C	F	-	2	0	HYDIN	69424448	0.913000	0.31002	0.034000	0.17996	0.934000	0.57294	3.881000	0.56152	0.131000	0.18576	0.418000	0.28097	TTT	HYDIN	-	NULL		0.413	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	A			70866947	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.003	C	C	70866947	A	C	70866947	3	2	131	1	0	0	0	0	1	0	0	0	7487	14	1	5	1690	5	HYDIN	16	70866947	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	564706	70866947	19487806	1605	21745										
HYDIN	54768	genome.wustl.edu	37	chr16	71127751	71127751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgcagatccagtgaaaactTtcccaatatccagcaattca	6	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:71127751T>G	ENST00000393567.2	-	11	1565	c.1415A>C	c.(1414-1416)aAa>aCa	p.K472T	HYDIN_ENST00000393550.2_Missense_Mutation_p.K472T|HYDIN_ENST00000541601.1_Missense_Mutation_p.K489T|HYDIN_ENST00000448691.1_Missense_Mutation_p.K472T|HYDIN_ENST00000288168.10_Missense_Mutation_p.K489T|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000321489.5_Missense_Mutation_p.K472T|HYDIN_ENST00000448089.2_Missense_Mutation_p.K472T|HYDIN_ENST00000538248.1_Missense_Mutation_p.K499T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	472					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGAAAACTTTCCCAATATC	0.408																																																	0													46	45	45					16																	71127751		2198	4297	6495	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1415A>C	16.37:g.71127751T>G	ENSP00000377197:p.Lys472Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.K472T	ENST00000393567.2	37	c.1415	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	15.42	2.829614	0.50845	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.14766	5.57;3.7;3.72;3.72;3.69;3.69;3.38;2.48	5.11	5.11	0.69529	.	0.000000	0.34411	U	0.003993	T	0.34106	0.0886	M	0.74881	2.28	0.44469	D	0.9974	P;P;B;P;D	0.71674	0.869;0.869;0.135;0.869;0.998	P;P;B;P;D	0.91635	0.77;0.77;0.421;0.77;0.999	T	0.19943	-1.0290	10	0.11485	T	0.65	.	14.622	0.68594	0.0:0.0:0.0:1.0	.	499;489;489;472;472	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	472;472;472;472;472;499;489;489;472	ENSP00000377197:K472T;ENSP00000398544:K472T;ENSP00000394826:K472T;ENSP00000314736:K472T;ENSP00000444970:K499T;ENSP00000437341:K489T;ENSP00000288168:K489T;ENSP00000377181:K472T	ENSP00000288168:K489T	K	-	2	0	HYDIN	69685252	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	3.920000	0.56446	1.962000	0.57031	0.352000	0.21897	AAA	HYDIN	-	NULL		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71127751	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71127751	T	G	71127751	3	3	131	1	0	0	0	0	1	0	0	0	7487	1841	64	5	14263	5	HYDIN	16	71127751	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	260804	71127751	19227002	1606	21746										
PHLPP2	23035	genome.wustl.edu	37	chr16	71736609	71736609	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtaatcataaacgatctgaaGaggtcgttcagtaggttcca	10	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:71736609G>T	ENST00000568954.1	-	3	688	c.310C>A	c.(310-312)Ctt>Att	p.L104I	PHLPP2_ENST00000393524.2_Missense_Mutation_p.L104I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.L104I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.L139I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.L104I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	104					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACGATCTGAAGAGGTCGTTCA	0.353																																																	0													77	68	71					16																	71736609		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.310C>A	16.37:g.71736609G>T	ENSP00000457991:p.Leu104Ile		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.L104I	ENST00000568954.1	37	c.310	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525305	0.85600	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.34667	1.35;1.35;1.35	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.71036	2.16	0.46901	D	0.999244	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.991	T	0.56786	-0.7921	10	0.51188	T	0.08	-13.7155	11.6957	0.51542	0.0815:0.0:0.9185:0.0	.	104;104	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	I	104	ENSP00000353610:L104I;ENSP00000348611:L104I;ENSP00000377159:L104I	ENSP00000348611:L104I	L	-	1	0	PHLPP2	70294110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.852000	0.69488	2.719000	0.93026	0.555000	0.69702	CTT	PHLPP2	-	NULL		0.353	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	G	NM_015020		71736609	-1	no_errors	ENST00000356272	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71736609	G	T	71736609	3	4	131	1	0	0	0	0	1	0	0	0	11879	942	33	3	3729	3	PHLPP2	16	71736609	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	608858	71736609	18618144	1607	21747										
ZFHX3	463	genome.wustl.edu	37	chr16	72827732	72827732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagattggtcatttgagtgCgaaaacgtttctgcccaggc	12	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:72827732C>T	ENST00000268489.5	-	9	9521	c.8849G>A	c.(8848-8850)cGc>cAc	p.R2950H	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2036H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2950					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CATTTGAGTGCGAAAACGTTT	0.527																																																	0													77	70	73					16																	72827732		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8849G>A	16.37:g.72827732C>T	ENSP00000268489:p.Arg2950His		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R2950H	ENST00000268489.5	37	c.8849	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405686	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99167	-5.51;-5.51	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000105	D	0.99651	0.9871	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97746	1.0211	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2950	Q15911	ZFHX3_HUMAN	H	2950;2036	ENSP00000268489:R2950H;ENSP00000438926:R2036H	ENSP00000268489:R2950H	R	-	2	0	ZFHX3	71385233	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC	ZFHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72827732	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72827732	C	T	72827732	3	4	131	1	0	0	0	0	1	0	0	0	17664	768	27	2	2270	2	ZFHX3	16	72827732	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1091123	72827732	17527021	1608	21748										
ZFHX3	463	genome.wustl.edu	37	chr16	72845843	72845843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagctgtttttggtcgcttCgaagagaggggagactctga	14	7	2	3	rs140481719		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:72845843C>T	ENST00000268489.5	-	6	4296	c.3624G>A	c.(3622-3624)tcG>tcA	p.S1208S	ZFHX3_ENST00000397992.5_Silent_p.S294S|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1208					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGGTCGCTTCGAAGAGAGGG	0.537																																																	0													160	162	162					16																	72845843		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3624G>A	16.37:g.72845843C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S1208	ENST00000268489.5	37	c.3624	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.537	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72845843	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	0.026	T	T	72845843	C	T	72845843	2	4	131	1	0	0	0	0	0	0	0	1	17664	871	31	1		1	ZFHX3	16	72845843	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	18111	72845843	17508910	1609	21749										
CLEC18B	497190	genome.wustl.edu	37	chr16	74444526	74444526	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccttggcggtcttgtaggtGagccctgggccggggtagtc	17	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:74444526G>T	ENST00000339953.5	-	10	1240	c.1119C>A	c.(1117-1119)ctC>ctA	p.L373L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	373	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTGTAGGTGAGCCCTGGGC	0.637																																																	0													24	28	26					16																	74444526		2190	4263	6453	SO:0001819	synonymous_variant	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1119C>A	16.37:g.74444526G>T			B4DF90	Silent	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.L373	ENST00000339953.5	37	c.1119	CCDS32484.1	16																																																																																			CLEC18B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.637	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1	G	NM_001011880		74444526	-1	no_errors	ENST00000339953	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74444526	G	T	74444526	2	4	131	1	0	0	0	0	0	0	0	1	3508	1277	45	3		3	CLEC18B	16	74444526	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1598683	74444526	15910227	1610	21750										
MLKL	197259	genome.wustl.edu	37	chr16	74729369	74729369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttcacgtccttgaagagtAttttgtcctggcttgctgtt	10	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:74729369A>G	ENST00000308807.7	-	2	750	c.287T>C	c.(286-288)aTa>aCa	p.I96T	MLKL_ENST00000306247.7_Missense_Mutation_p.I96T	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTTGAAGAGTATTTTGTCCTG	0.483																																																	0													170	160	163					16																	74729369		2198	4300	6498	SO:0001583	missense	197259			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.287T>C	16.37:g.74729369A>G	ENSP00000308351:p.Ile96Thr			Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I96T	ENST00000308807.7	37	c.287	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624040	0.28889	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.78481	-1.18;2.71	4.63	2.09	0.27110	.	0.451951	0.23400	N	0.048588	T	0.74068	0.3668	L	0.34521	1.04	0.09310	N	1	D;P	0.57899	0.981;0.828	P;B	0.56563	0.801;0.3	T	0.63037	-0.6726	10	0.49607	T	0.09	-8.1455	6.8007	0.23750	0.5699:0.0:0.0:0.4301	.	96;96	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	T	96	ENSP00000308351:I96T;ENSP00000303118:I96T	ENSP00000303118:I96T	I	-	2	0	MLKL	73286870	0.003000	0.15002	0.387000	0.26183	0.079000	0.17450	0.187000	0.16998	0.815000	0.34398	0.528000	0.53228	ATA	MLKL	-	NULL		0.483	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3	A	NM_152649		74729369	-1	no_errors	ENST00000308807	ensembl	human	known	70_37	missense	SNP	0.101	G	G	74729369	A	G	74729369	3	3	131	1	0	0	0	0	1	0	0	0	9642	449	16	5	1199	5	MLKL	16	74729369	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	284843	74729369	15625384	1611	21751										
CNTNAP4	85445	genome.wustl.edu	37	chr16	76481986	76481986	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatccctgagcccaataaaaGacattatttctttgaaattc	4	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:76481986G>T	ENST00000476707.1	+	4	764	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D205Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D181Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D205Y|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	206					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCAATAAAAGACATTATTTC	0.393																																																	0													78	79	79					16																	76481986		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.625G>T	16.37:g.76481986G>T	ENSP00000417628:p.Asp209Tyr		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D205Y	ENST00000476707.1	37	c.613		16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388885	0.82902	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.171768	0.27294	N	0.020034	D	0.88492	0.6451	.	.	.	0.58432	D	0.999999	D;P;D;D	0.76494	0.975;0.911;0.995;0.999	P;P;P;D	0.67900	0.764;0.764;0.885;0.954	D	0.89636	0.3859	9	0.87932	D	0	.	18.9572	0.92664	0.0:0.0:1.0:0.0	.	181;209;181;206	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Y	205;205;181;209	ENSP00000306893:D205Y;ENSP00000439733:D205Y;ENSP00000418741:D181Y;ENSP00000417628:D209Y	ENSP00000306893:D205Y	D	+	1	0	CNTNAP4	75039487	1.000000	0.71417	0.915000	0.36163	0.979000	0.70002	6.096000	0.71446	2.710000	0.92621	0.563000	0.77884	GAC	CNTNAP4	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	G	NM_033401		76481986	1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76481986	G	T	76481986	3	4	131	1	0	0	0	0	1	0	0	0	3654	942	33	3	647	3	CNTNAP4	16	76481986	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1752617	76481986	13872767	1612	21752										
ADAMTS18	170692	genome.wustl.edu	37	chr16	77325241	77325241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagcccgtcggttgcaggtCtcttccaagtccagatttgg	11	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:77325241C>T	ENST00000282849.5	-	21	3742	c.3324G>A	c.(3322-3324)gaG>gaA	p.E1108E	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1108	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTTGCAGGTCTCTTCCAAGT	0.527																																																	0													170	169	169					16																	77325241		2198	4300	6498	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3324G>A	16.37:g.77325241C>T			Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1108	ENST00000282849.5	37	c.3324	CCDS10926.1	16																																																																																			ADAMTS18	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.527	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	C			77325241	-1	no_errors	ENST00000282849	ensembl	human	known	70_37	silent	SNP	0.314	T	T	77325241	C	T	77325241	2	4	131	1	0	0	0	0	0	0	0	1	263	912	32	1		1	ADAMTS18	16	77325241	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	843255	77325241	13029512	1613	21753										
USP10	9100	genome.wustl.edu	37	chr16	84793794	84793794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagctcttggagataaaatCgtgagggatattcgccctgg	13	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:84793794C>T	ENST00000219473.7	+	8	1580	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	USP10_ENST00000570191.1_Silent_p.I493I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	489	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAGATAAAATCGTGAGGGATA	0.418																																																	0													44	40	41					16																	84793794		1860	4099	5959	SO:0001819	synonymous_variant	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1467C>T	16.37:g.84793794C>T			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19	p.I493	ENST00000219473.7	37	c.1479	CCDS45537.1	16																																																																																			USP10	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.418	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	C			84793794	1	no_errors	ENST00000570191	ensembl	human	known	70_37	silent	SNP	0.043	T	T	84793794	C	T	84793794	2	4	131	1	0	0	0	0	0	0	0	1	17072	874	31	1		1	USP10	16	84793794	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7468553	84793794	5560959	1614	21754										
CPNE7	27132	genome.wustl.edu	37	chr16	89645291	89645291	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaaagtggcttctgcaagtCgtgatgagagtgtctgttga	13	6	2	3	rs527294284		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:89645291C>T	ENST00000268720.5	+	3	514	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	128					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTCTGCAAGTCGTGATGAGAG	0.587													C|||	1	0.000199681	0	0.0014	5008	,	,		15817	0		0	False		,,,				2504	0																0													107	93	98					16																	89645291		2198	4300	6498	SO:0001819	synonymous_variant	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.384C>T	16.37:g.89645291C>T				Silent	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.V128	ENST00000268720.5	37	c.384	CCDS10980.1	16																																																																																			CPNE7	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.587	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	C			89645291	1	no_errors	ENST00000268720	ensembl	human	known	70_37	silent	SNP	0.001	T	T	89645291	C	T	89645291	2	4	131	1	0	0	0	0	0	0	0	1	3822	871	31	1		1	CPNE7	16	89645291	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4851497	89645291	709462	1615	21755										
ABR	29	genome.wustl.edu	37	chr17	915136	915136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtccgtggccacgcccgatAtcctgtagatgccaacctcc	9	16	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:915136A>C	ENST00000302538.5	-	19	2197	c.2051T>G	c.(2050-2052)aTa>aGa	p.I684R	ABR_ENST00000543210.2_Missense_Mutation_p.I135R|ABR_ENST00000544583.2_Missense_Mutation_p.I638R|ABR_ENST00000291107.2_Missense_Mutation_p.I647R|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Missense_Mutation_p.I466R|ABR_ENST00000574437.1_Missense_Mutation_p.I638R	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	684	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CACGCCCGATATCCTGTAGAT	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													215	158	177					17																	915136		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2051T>G	17.37:g.915136A>C	ENSP00000303909:p.Ile684Arg		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.I684R	ENST00000302538.5	37	c.2051	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537474	0.65085	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	6.07	6.07	0.98685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.105667	0.64402	D	0.000007	T	0.37625	0.1010	L	0.58354	1.805	0.58432	D	0.999998	P;D;B;P;P;P	0.60160	0.834;0.987;0.002;0.899;0.73;0.73	P;P;B;P;P;P	0.55391	0.703;0.775;0.003;0.667;0.707;0.616	T	0.10428	-1.0630	10	0.87932	D	0	.	15.5208	0.75866	1.0:0.0:0.0:0.0	.	466;135;292;647;594;684	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	R	684;638;647;466;135;293	ENSP00000303909:I684R;ENSP00000442048:I638R;ENSP00000291107:I647R;ENSP00000437429:I466R;ENSP00000445198:I135R	ENSP00000291107:I647R	I	-	2	0	ABR	861886	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.339000	0.96797	2.340000	0.79590	0.529000	0.55759	ATA	ABR	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	A			915136	-1	no_errors	ENST00000302538	ensembl	human	known	70_37	missense	SNP	1.000	C	C	915136	A	C	915136	3	2	131	1	0	0	0	0	1	0	0	0	99	449	16	5	548	5	ABR	17	915136	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09		915136	80280074	1616	21756										
ABR	29	genome.wustl.edu	37	chr17	1012271	1012271	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcttcgtcctccagaaccTtgtccagcaagcctatcgcc	6	17	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:1012271T>G	ENST00000302538.5	-	3	393				ABR_ENST00000544583.2_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.K13T|ABR_ENST00000574437.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCCAGAACCTTGTCCAGCAA	0.672																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													47	36	39					17																	1012271		2202	4300	6502	SO:0001627	intron_variant	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.247-8296A>C	17.37:g.1012271T>G			B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.K13T	ENST00000302538.5	37	c.38	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	t	20.7	4.028976	0.75504	.	.	ENSG00000159842	ENST00000291107	T	0.21361	2.01	5.16	4.09	0.47781	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.80722	D	1	B	0.29301	0.241	B	0.31812	0.136	T	0.05225	-1.0898	8	0.51188	T	0.08	.	7.9676	0.30109	0.0:0.0942:0.0:0.9058	.	13	Q12979-2	.	T	13	ENSP00000291107:K13T	ENSP00000291107:K13T	K	-	2	0	ABR	959021	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.671000	0.37513	1.956000	0.56807	0.398000	0.26397	AAG	ABR	-	NULL		0.672	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	T			1012271	-1	no_errors	ENST00000291107	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1012271	T	G	1012271	1	3	131	0	1	0	0	0	0	0	0	0	99	1609	56	5		5	ABR	17	1012271	Intron	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	97135	1012271	80182939	1617	21757										
OR1G1	8390	genome.wustl.edu	37	chr17	3030623	3030623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcttagggactgtggtggAcacaaagcaggcatctgcaa	12	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3030623A>G	ENST00000328890.2	-	1	252	c.223T>C	c.(223-225)Tcc>Ccc	p.S75P		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	75					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTGGTGGACACAAAGCAG	0.453																																					Colon(127;1481 1654 8243 19426 50557)												0													98	86	90					17																	3030623		2203	4300	6503	SO:0001583	missense	8390			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.223T>C	17.37:g.3030623A>G	ENSP00000331545:p.Ser75Pro		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75P	ENST00000328890.2	37	c.223	CCDS11020.1	17	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207825	0.58343	.	.	ENSG00000183024	ENST00000328890	T	0.00408	7.54	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01976	0.0062	H	0.95917	3.74	0.26357	N	0.977115	D	0.76494	0.999	D	0.71414	0.973	T	0.11891	-1.0569	9	0.87932	D	0	.	12.7129	0.57100	1.0:0.0:0.0:0.0	.	75	P47890	OR1G1_HUMAN	P	75	ENSP00000331545:S75P	ENSP00000331545:S75P	S	-	1	0	OR1G1	2977373	0.002000	0.14202	0.329000	0.25429	0.989000	0.77384	0.026000	0.13599	1.866000	0.54105	0.432000	0.28606	TCC	OR1G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1G1	HGNC	protein_coding	OTTHUMT00000207206.2	A			3030623	-1	no_errors	ENST00000328890	ensembl	human	known	70_37	missense	SNP	0.601	G	G	3030623	A	G	3030623	3	3	131	1	0	0	0	0	1	0	0	0	10981	275	10	5	722	5	OR1G1	17	3030623	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2018352	3030623	78164587	1618	21758										
OR1A2	26189	genome.wustl.edu	37	chr17	3101385	3101385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgaagttgtcctgttctgaCgtccactttaatgtgaagat	9	8	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3101385C>T	ENST00000381951.1	+	1	573	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	191					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CCTGTTCTGACGTCCACTTTA	0.453																																																	0													216	172	187					17																	3101385		2203	4300	6503	SO:0001819	synonymous_variant	26189			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.573C>T	17.37:g.3101385C>T			Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D191	ENST00000381951.1	37	c.573	CCDS11021.1	17																																																																																			OR1A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	HGNC	protein_coding	OTTHUMT00000207293.1	C	NM_012352		3101385	1	no_errors	ENST00000381951	ensembl	human	known	70_37	silent	SNP	0.116	T	T	3101385	C	T	3101385	2	4	131	1	0	0	0	0	0	0	0	1	10974	535	19	2		2	OR1A2	17	3101385	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	70762	3101385	78093825	1619	21759										
OR1E1	8387	genome.wustl.edu	37	chr17	3301095	3301095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggatgacaagaatgagccCtcccatgataaatatcaccc	8	11	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3301095C>A	ENST00000322608.2	-	1	609	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						AGAATGAGCCCTCCCATGATA	0.468																																																	0													43	44	44					17																	3301095		2203	4298	6501	SO:0001583	missense	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.610G>T	17.37:g.3301095C>A	ENSP00000313384:p.Gly204Trp		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G204W	ENST00000322608.2	37	c.610	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375970	0.24857	.	.	ENSG00000180016	ENST00000322608	T	0.38401	1.14	4.69	0.0529	0.14304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.59918	0.2229	H	0.94658	3.565	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48906	-0.8993	10	0.37606	T	0.19	.	3.7146	0.08433	0.2687:0.4741:0.0:0.2571	.	204	P30953	OR1E1_HUMAN	W	204	ENSP00000313384:G204W	ENSP00000313384:G204W	G	-	1	0	OR1E1	3247845	0.000000	0.05858	0.207000	0.23584	0.421000	0.31385	-0.256000	0.08757	0.202000	0.20498	0.591000	0.81541	GGG	OR1E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3301095	-1	no_errors	ENST00000322608	ensembl	human	known	70_37	missense	SNP	0.001	A	A	3301095	C	A	3301095	3	1	131	1	0	0	0	0	1	0	0	0	10978	681	24	4	338	4	OR1E1	17	3301095	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	199710	3301095	77894115	1620	21760										
ITGAE	3682	genome.wustl.edu	37	chr17	3643106	3643106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtccaactcactgagagaCggtggtggccaactgtaatt	11	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3643106C>T	ENST00000263087.4	-	20	2613	c.2515G>A	c.(2515-2517)Gtc>Atc	p.V839I	ITGAE_ENST00000571185.1_5'Flank	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	839					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CACTGAGAGACGGTGGTGGCC	0.527																																					NSCLC(182;635 2928 8995 38788)												0													187	148	161					17																	3643106		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2515G>A	17.37:g.3643106C>T	ENSP00000263087:p.Val839Ile		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.V839I	ENST00000263087.4	37	c.2515	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.520892	0.00967	.	.	ENSG00000083457	ENST00000263087	T	0.45276	0.9	4.86	-5.75	0.02384	Integrin alpha-2 (1);	.	.	.	.	T	0.09468	0.0233	N	0.00677	-1.265	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.35674	-0.9779	9	0.06757	T	0.87	.	6.599	0.22691	0.0:0.3485:0.4008:0.2507	.	839	P38570	ITAE_HUMAN	I	839	ENSP00000263087:V839I	ENSP00000263087:V839I	V	-	1	0	ITGAE	3589855	0.000000	0.05858	0.038000	0.18304	0.304000	0.27724	-1.022000	0.03611	-0.840000	0.04206	-0.494000	0.04653	GTC	ITGAE	-	pfam_Integrin_alpha-2		0.527	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	C	NM_002208		3643106	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	missense	SNP	0.006	T	T	3643106	C	T	3643106	3	4	131	1	0	0	0	0	1	0	0	0	7905	536	19	2	1072	2	ITGAE	17	3643106	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	342011	3643106	77552104	1621	21761										
P2RX1	5023	genome.wustl.edu	37	chr17	3802962	3802962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggggagagatttttctcttCgtacagcccatggaactcat	10	9	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3802962C>T	ENST00000225538.3	-	8	1115	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	281					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TTTTTCTCTTCGTACAGCCCA	0.567																																																	0													98	87	91					17																	3802962		2203	4300	6503	SO:0001583	missense	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.841G>A	17.37:g.3802962C>T	ENSP00000225538:p.Glu281Lys		Q9UK84	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.E281K	ENST00000225538.3	37	c.841	CCDS11040.1	17	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944880	0.18356	.	.	ENSG00000108405	ENST00000225538	T	0.04156	3.69	5.37	5.37	0.77165	.	0.342930	0.33572	N	0.004770	T	0.04407	0.0121	N	0.16743	0.435	0.30038	N	0.812855	B	0.32829	0.386	B	0.28849	0.095	T	0.20605	-1.0270	10	0.40728	T	0.16	-4.9443	18.0887	0.89466	0.0:1.0:0.0:0.0	.	281	P51575	P2RX1_HUMAN	K	281	ENSP00000225538:E281K	ENSP00000225538:E281K	E	-	1	0	P2RX1	3749711	0.425000	0.25498	0.892000	0.35008	0.311000	0.27955	3.209000	0.51122	2.520000	0.84964	0.643000	0.83706	GAA	P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.567	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	C	NM_002558		3802962	-1	no_errors	ENST00000225538	ensembl	human	known	70_37	missense	SNP	0.936	T	T	3802962	C	T	3802962	3	4	131	1	0	0	0	0	1	0	0	0	11363	893	31	1	378	1	P2RX1	17	3802962	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	159856	3802962	77392248	1622	21762										
ZZEF1	23140	genome.wustl.edu	37	chr17	3969795	3969795	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actatgtttttcttctgcttCattccccaggctcatcaggg	7	12	5	0	rs539113171		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3969795C>A	ENST00000381638.2	-	28	4319	c.4195G>T	c.(4195-4197)Gaa>Taa	p.E1399*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1399							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCTTCTGCTTCATTCCCCAGG	0.502																																																	0													214	197	203					17																	3969795		2203	4300	6503	SO:0001587	stop_gained	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4195G>T	17.37:g.3969795C>A	ENSP00000371051:p.Glu1399*		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.E1399*	ENST00000381638.2	37	c.4195	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.070782	0.99330	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.38	5.38	0.77491	.	0.334038	0.31697	N	0.007214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.9636	19.1189	0.93353	0.0:1.0:0.0:0.0	.	.	.	.	X	1399	.	ENSP00000371051:E1399X	E	-	1	0	ZZEF1	3916544	0.973000	0.33851	0.659000	0.29680	0.244000	0.25665	3.775000	0.55349	2.511000	0.84671	0.561000	0.74099	GAA	ZZEF1	-	NULL		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	C	NM_015113		3969795	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	nonsense	SNP	0.562	A	A	3969795	C	A	3969795	4	1	131	1	0	0	0	0	0	1	0	0	18285	835	29	3	4802	3	ZZEF1	17	3969795	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	166833	3969795	77225415	1623	21763										
ANKFY1	51479	genome.wustl.edu	37	chr17	4072504	4072504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcttaccagtggtgtttgCgagtggtgactccgaacctg	14	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:4072504C>T	ENST00000341657.4	-	24	3400	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R1123H|ANKFY1_ENST00000570535.1_Missense_Mutation_p.R1164H	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1122					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGGTGTTTGCGAGTGGTGAC	0.607																																																	0													29	33	31					17																	4072504		2143	4167	6310	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3365G>A	17.37:g.4072504C>T	ENSP00000343362:p.Arg1122His		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.R1164H	ENST00000341657.4	37	c.3491		17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043932	0.93685	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91102	0.7199	H	0.98849	4.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.996	D	0.94031	0.7301	9	0.56958	D	0.05	-17.0537	18.4941	0.90858	0.0:1.0:0.0:0.0	.	1064;1122;1123;1164	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	H	1123;1064	.	ENSP00000343362:R1123H	R	-	2	0	ANKFY1	4019253	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.818000	0.86416	2.611000	0.88343	0.563000	0.77884	CGC	ANKFY1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.607	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4072504	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4072504	C	T	4072504	3	4	131	1	0	0	0	0	1	0	0	0	626	768	27	2	152	2	ANKFY1	17	4072504	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	102709	4072504	77122706	1624	21764										
MED11	400569	genome.wustl.edu	37	chr17	4634813	4634813	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctacagcctggcgaacgagaGactacgcgctctggaagaca	12	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:4634813G>T	ENST00000293777.5	+	1	85	c.29G>T	c.(28-30)aGa>aTa	p.R10I	MED11_ENST00000573708.1_Missense_Mutation_p.R10I|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.R10I|CXCL16_ENST00000576153.1_5'Flank	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	10						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GCGAACGAGAGACTACGCGCT	0.557											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96	76	83					17																	4634813		2203	4300	6503	SO:0001583	missense	400569			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.29G>T	17.37:g.4634813G>T	ENSP00000293777:p.Arg10Ile	620	Q6NS89	Missense_Mutation	SNP	pfam_Mediator_Med11	p.R10I	ENST00000293777.5	37	c.29	CCDS32533.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.448760	0.96205	.	.	ENSG00000161920	ENST00000293777	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000003	T	0.77968	0.4210	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80531	-0.1341	9	0.87932	D	0	-0.4691	15.5521	0.76161	0.0:0.0:1.0:0.0	.	10	Q9P086	MED11_HUMAN	I	10	.	ENSP00000293777:R10I	R	+	2	0	MED11	4581562	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.241000	0.78201	2.527000	0.85204	0.655000	0.94253	AGA	MED11	-	pfam_Mediator_Med11		0.557	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED11	HGNC	protein_coding	OTTHUMT00000439574.1	G	NM_001001683		4634813	1	no_errors	ENST00000293777	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4634813	G	T	4634813	3	4	131	1	0	0	0	0	1	0	0	0	9450	942	33	3	31	3	MED11	17	4634813	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	562309	4634813	76560397	1625	21765										
ZMYND15	84225	genome.wustl.edu	37	chr17	4647739	4647739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcctgccccccgaaagcgacGagcagcattttaccctgcag	10	16	0	0	rs145111729		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:4647739G>A	ENST00000433935.1	+	10	1717	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	ZMYND15_ENST00000592813.1_Missense_Mutation_p.E515K|ZMYND15_ENST00000573751.2_Missense_Mutation_p.E554K|ZMYND15_ENST00000269289.6_Missense_Mutation_p.E515K	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	554					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CGAAAGCGACGAGCAGCATTT	0.602																																																	0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	72	75	74		1660,1543	1	1	17	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZMYND15	NM_001136046.1,NM_032265.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	554/743,515/704	4647739	1,13005	2203	4300	6503	SO:0001583	missense	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1660G>A	17.37:g.4647739G>A	ENSP00000391742:p.Glu554Lys		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.E554K	ENST00000433935.1	37	c.1660	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	1.199	-0.633138	0.03584	0.0	1.16E-4	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.44482	0.94;0.92	5.32	0.99	0.19807	.	0.555807	0.17380	N	0.176334	T	0.21347	0.0514	N	0.08118	0	0.20764	N	0.999857	B;B	0.25272	0.122;0.006	B;B	0.18561	0.022;0.003	T	0.13899	-1.0492	10	0.35671	T	0.21	-6.4793	11.6298	0.51166	0.1354:0.3348:0.5297:0.0	.	554;515	B4DXY5;Q9H091	.;ZMY15_HUMAN	K	554;515	ENSP00000391742:E554K;ENSP00000269289:E515K	ENSP00000269289:E515K	E	+	1	0	ZMYND15	4594488	1.000000	0.71417	0.999000	0.59377	0.512000	0.34134	1.098000	0.31000	0.080000	0.16959	-0.927000	0.02713	GAG	ZMYND15	-	NULL		0.602	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	G	NM_032265		4647739	1	no_errors	ENST00000433935	ensembl	human	known	70_37	missense	SNP	0.998	A	A	4647739	G	A	4647739	3	1	131	1	0	0	0	0	1	0	0	0	17738	1059	37	1	1694	1	ZMYND15	17	4647739	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	12926	4647739	76547471	1626	21766										
ZNF594	84622	genome.wustl.edu	37	chr17	5085175	5085175	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgattgagttttcccacattCtttacattcatatggtttct	5	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:5085175C>A	ENST00000399604.4	-	1	2517	c.2377G>T	c.(2377-2379)Gaa>Taa	p.E793*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.E793*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	793					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCCCACATTCTTTACATTCA	0.393																																																	0													182	180	181					17																	5085175		2004	4205	6209	SO:0001587	stop_gained	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2377G>T	17.37:g.5085175C>A	ENSP00000382513:p.Glu793*		Q6RFS0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E793*	ENST00000399604.4	37	c.2377	CCDS42241.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.047042|6.047042	0.97231|0.97231	.|.	.|.	ENSG00000180626|ENSG00000180626	ENST00000399604|ENST00000381752	.|.	.|.	.|.	0.98|0.98	0.98|0.98	0.19750|0.19750	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14917	.|0.0360	.|.	.|.	.|.	0.27127|0.27127	N|N	0.961986|0.961986	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28618	.|-1.0038	.|5	0.44086|0.07325	T|T	0.13|0.83	.|.	7.5278|7.5278	0.27666|0.27666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	793|4	.|.	ENSP00000382513:E793X|ENSP00000371171:K4N	E|K	-|-	1|3	0|2	ZNF594|ZNF594	5025899|5025899	0.000000|0.000000	0.05858|0.05858	0.038000|0.038000	0.18304|0.18304	0.547000|0.547000	0.35210|0.35210	-1.390000|-1.390000	0.02528|0.02528	0.489000|0.489000	0.27749|0.27749	0.289000|0.289000	0.19496|0.19496	GAA|AAG	ZNF594	-	NULL		0.393	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5085175	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	nonsense	SNP	0.355	A	A	5085175	C	A	5085175	4	1	131	1	0	0	0	0	0	1	0	0	18054	922	32	3	50	3	ZNF594	17	5085175	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	437436	5085175	76110035	1627	21767										
FBXO39	162517	genome.wustl.edu	37	chr17	6684086	6684086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagtacgaacgcttggcccGaatcctcttgcaggagatcc	11	12	1	1	rs558767788		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:6684086G>A	ENST00000321535.4	+	2	1029	c.899G>A	c.(898-900)cGa>cAa	p.R300Q		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	300										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CGCTTGGCCCGAATCCTCTTG	0.522																																																	0													60	50	54					17																	6684086		2203	4300	6503	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.899G>A	17.37:g.6684086G>A	ENSP00000321386:p.Arg300Gln			Missense_Mutation	SNP	NULL	p.R300Q	ENST00000321535.4	37	c.899	CCDS11082.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262464	0.59431	.	.	ENSG00000177294	ENST00000321535	T	0.52983	0.64	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000030	T	0.49932	0.1586	N	0.17082	0.46	0.43390	D	0.995509	D	0.69078	0.997	D	0.70227	0.968	T	0.39482	-0.9612	10	0.24483	T	0.36	-32.5728	14.5876	0.68339	0.0:0.0:1.0:0.0	.	300	Q8N4B4	FBX39_HUMAN	Q	300	ENSP00000321386:R300Q	ENSP00000321386:R300Q	R	+	2	0	FBXO39	6624810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.405000	0.73272	2.708000	0.92522	0.650000	0.86243	CGA	FBXO39	-	NULL		0.522	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	G	NM_153230		6684086	1	no_errors	ENST00000321535	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6684086	G	A	6684086	3	1	131	1	0	0	0	0	1	0	0	0	5765	1058	37	1	901	1	FBXO39	17	6684086	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1598911	6684086	74511124	1628	21768										
ZBTB4	57659	genome.wustl.edu	37	chr17	7365529	7365529	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagctgggggccatagacGagcgggtagggctcagggta	20	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7365529G>A	ENST00000311403.4	-	4	3111	c.2772C>T	c.(2770-2772)ctC>ctT	p.L924L	ZBTB4_ENST00000380599.4_Silent_p.L924L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	924					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCCATAGACGAGCGGGTAGG	0.597																																																	0													98	104	102					17																	7365529		2203	4299	6502	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2772C>T	17.37:g.7365529G>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L924	ENST00000311403.4	37	c.2772	CCDS11107.1	17																																																																																			ZBTB4	-	NULL		0.597	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	G	NM_020899		7365529	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	silent	SNP	0.434	A	A	7365529	G	A	7365529	2	1	131	1	0	0	0	0	0	0	0	1	17571	1045	37	1		1	ZBTB4	17	7365529	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	681443	7365529	73829681	1629	21769										
POLR2A	5430	genome.wustl.edu	37	chr17	7403990	7403990	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacctcctgatgttcctgtcGacgtgggatgggaaggtccc	13	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7403990G>A	ENST00000322644.6	+	11	2103	c.1704G>A	c.(1702-1704)tcG>tcA	p.S568S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	568					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGTTCCTGTCGACGTGGGATG	0.532																																																	0													86	81	83					17																	7403990		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1704G>A	17.37:g.7403990G>A			A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S568	ENST00000322644.6	37	c.1704	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_Rpb1_3		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	G	NM_000937		7403990	1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.214	A	A	7403990	G	A	7403990	2	1	131	1	0	0	0	0	0	0	0	1	12238	1045	37	1		1	POLR2A	17	7403990	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	38461	7403990	73791220	1630	21770										
DNAH2	146754	genome.wustl.edu	37	chr17	7678138	7678138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatattcagaaatctctggaTatgtatttagagaccaagcg	9	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7678138T>G	ENST00000572933.1	+	29	6023	c.4563T>G	c.(4561-4563)gaT>gaG	p.D1521E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D1521E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1521	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATCTCTGGATATGTATTTAG	0.448																																																	0													90	85	87					17																	7678138		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4563T>G	17.37:g.7678138T>G	ENSP00000458355:p.Asp1521Glu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.D1521E	ENST00000572933.1	37	c.4563	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311054	0.60414	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.59502	0.26	5.59	2.3	0.28687	Dynein heavy chain, domain-2 (1);	0.108239	0.64402	D	0.000012	T	0.50292	0.1607	N	0.25825	0.765	0.80722	D	1	P	0.41080	0.737	P	0.53809	0.735	T	0.36212	-0.9757	10	0.11182	T	0.66	.	7.5699	0.27900	0.0:0.5547:0.0:0.4453	.	1521	Q9P225	DYH2_HUMAN	E	1521	ENSP00000373825:D1521E	ENSP00000353818:D1521E	D	+	3	2	DNAH2	7618863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.332000	0.33805	0.114000	0.18032	0.519000	0.50382	GAT	DNAH2	-	pfam_Dynein_heavy_dom-2		0.448	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	T	NM_020877		7678138	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7678138	T	G	7678138	3	3	131	1	0	0	0	0	1	0	0	0	4612	1403	49	5	4673	5	DNAH2	17	7678138	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	274148	7678138	73517072	1631	21771										
CHD3	1107	genome.wustl.edu	37	chr17	7807175	7807175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggaggacagcagtgtgattCattatgacaatgaggccatc	12	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7807175C>A	ENST00000330494.7	+	24	3910	c.3760C>A	c.(3760-3762)Cat>Aat	p.H1254N	CHD3_ENST00000380358.4_Missense_Mutation_p.H1313N|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.H1254N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1254					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGTGTGATTCATTATGACAA	0.493																																																	0													101	85	90					17																	7807175		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3760C>A	17.37:g.7807175C>A	ENSP00000332628:p.His1254Asn		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1254N	ENST00000330494.7	37	c.3760	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130705	0.77549	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.96365	-3.99;-3.99;-3.99	4.98	4.98	0.66077	.	0.000000	0.48767	D	0.000175	D	0.97648	0.9229	M	0.64997	1.995	0.80722	D	1	D;D;D	0.63880	0.989;0.981;0.993	D;D;D	0.72982	0.979;0.954;0.968	D	0.98150	1.0441	10	0.72032	D	0.01	-22.9313	18.8043	0.92030	0.0:1.0:0.0:0.0	.	1254;1254;1313	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	1313;1254;1254	ENSP00000369716:H1313N;ENSP00000350907:H1254N;ENSP00000332628:H1254N	ENSP00000332628:H1254N	H	+	1	0	CHD3	7747900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.275000	0.78548	2.743000	0.94032	0.561000	0.74099	CAT	CHD3	-	NULL		0.493	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7807175	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7807175	C	A	7807175	3	1	131	1	0	0	0	0	1	0	0	0	3331	826	29	3	4135	3	CHD3	17	7807175	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	129037	7807175	73388035	1632	21772										
SLC25A35	399512	genome.wustl.edu	37	chr17	8194264	8194264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actcatcatggcagccaccaGcgccaacttccagctctggg	9	16	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:8194264G>A	ENST00000577745.1	-	4	1135	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SLC25A35_ENST00000579192.1_Silent_p.L209L|SLC25A35_ENST00000396278.1_Silent_p.L209L|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000580340.1_Silent_p.L209L|SLC25A35_ENST00000380067.2_Silent_p.L209L			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	209					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						GCAGCCACCAGCGCCAACTTC	0.562																																																	0													73	67	69					17																	8194264		2203	4300	6503	SO:0001819	synonymous_variant	399512			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"Solute carriers"	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.625C>T	17.37:g.8194264G>A			Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L209	ENST00000577745.1	37	c.625		17																																																																																			SLC25A35	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.562	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	HGNC	protein_coding	OTTHUMT00000442146.1	G	NM_201520		8194264	-1	no_errors	ENST00000577745	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8194264	G	A	8194264	2	1	131	1	0	0	0	0	0	0	0	1	14529	962	34	4		4	SLC25A35	17	8194264	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	387089	8194264	73000946	1633	21773										
KRBA2	124751	genome.wustl.edu	37	chr17	8272985	8272985	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taacacactgggtgtaccaaGaattgtgaaaatatctaaca	7	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:8272985G>T	ENST00000331336.2	-	2	951	c.946C>A	c.(946-948)Ctt>Att	p.L316I	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.L234I|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	316	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GGTGTACCAAGAATTGTGAAA	0.423																																																	0													47	47	47					17																	8272985		2203	4300	6503	SO:0001583	missense	124751			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.946C>A	17.37:g.8272985G>T	ENSP00000328017:p.Leu316Ile		Q8IYY0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core	p.L316I	ENST00000331336.2	37	c.946	CCDS11141.1	17	.	.	.	.	.	.	.	.	.	.	g	9.077	0.998382	0.19121	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.44482	0.92;0.92	3.2	3.2	0.36748	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.21387	0.0515	N	0.05124	-0.11	0.24667	N	0.99343	B	0.25955	0.138	B	0.24006	0.05	T	0.09773	-1.0659	9	0.24483	T	0.36	.	10.1931	0.43039	0.0:0.0:1.0:0.0	.	316	Q6ZNG9	KRBA2_HUMAN	I	234;316	ENSP00000379565:L234I;ENSP00000328017:L316I	ENSP00000328017:L316I	L	-	1	0	KRBA2	8213710	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.633000	0.24598	2.110000	0.64415	0.650000	0.86243	CTT	KRBA2	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.423	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRBA2	HGNC	protein_coding	OTTHUMT00000256338.1	G	NM_213597		8272985	-1	no_errors	ENST00000331336	ensembl	human	known	70_37	missense	SNP	0.998	T	T	8272985	G	T	8272985	3	4	131	1	0	0	0	0	1	0	0	0	8460	942	33	3	536	3	KRBA2	17	8272985	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	78721	8272985	72922225	1634	21774										
STX8	9482	genome.wustl.edu	37	chr17	9471774	9471774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcaatttgacaagtagaatCgtatgtggagaacctgcacc	11	8	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:9471774C>T	ENST00000306357.4	-	2	458	c.31G>A	c.(31-33)Gat>Aat	p.D11N	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_Intron	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	11					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D11N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CAAGTAGAATCGTATGTGGAG	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											125	101	109					17																	9471774		2203	4300	6503	SO:0001583	missense	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.31G>A	17.37:g.9471774C>T	ENSP00000305255:p.Asp11Asn		O60712|Q53XT8	Missense_Mutation	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D11N	ENST00000306357.4	37	c.31	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831684	0.91036	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.71581	2.175	0.52099	D	0.999948	D	0.69078	0.997	P	0.56088	0.791	T	0.73094	-0.4091	9	0.40728	T	0.16	0.7227	16.6943	0.85330	0.0:1.0:0.0:0.0	.	11	Q9UNK0	STX8_HUMAN	N	11	.	ENSP00000305255:D11N	D	-	1	0	STX8	9412499	0.995000	0.38212	0.965000	0.40720	0.975000	0.68041	4.039000	0.57325	2.680000	0.91292	0.655000	0.94253	GAT	STX8	-	NULL		0.403	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	C	NM_004853		9471774	-1	no_errors	ENST00000306357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9471774	C	T	9471774	3	4	131	1	0	0	0	0	1	0	0	0	15381	884	31	1	707	1	STX8	17	9471774	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1198789	9471774	71723436	1635	21775										
MYH13	8735	genome.wustl.edu	37	chr17	10210289	10210289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcttggccttctcctctgcGttcctggactcctggatcga	9	14	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10210289G>A	ENST00000418404.3	-	35	5425	c.5262C>T	c.(5260-5262)aaC>aaT	p.N1754N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.N1754N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1754					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTGCGTTCCTGGACT	0.517																																																	0													110	112	111					17																	10210289		2200	4300	6500	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5262C>T	17.37:g.10210289G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1754	ENST00000418404.3	37	c.5262	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10210289	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10210289	G	A	10210289	2	1	131	1	0	0	0	0	0	0	0	1	10055	1136	40	2		2	MYH13	17	10210289	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	738515	10210289	70984921	1636	21776										
MYH8	4626	genome.wustl.edu	37	chr17	10317799	10317799	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactctggacttttctaaaaGatctggagagggaaatagat	10	5	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10317799G>T	ENST00000403437.2	-	10	902	c.808C>A	c.(808-810)Ctt>Att	p.L270I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	270	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTCTAAAAGATCTGGAGAG	0.353									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													30	29	29					17																	10317799		2194	4289	6483	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.808C>A	17.37:g.10317799G>T	ENSP00000384330:p.Leu270Ile		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L270I	ENST00000403437.2	37	c.808	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193736	0.78902	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	4.83	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.36200	U	0.002721	D	0.93736	0.7998	H	0.99600	4.65	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	D	0.96611	0.9452	10	0.87932	D	0	.	18.1044	0.89516	0.0:0.0:1.0:0.0	.	270	P13535	MYH8_HUMAN	I	270	ENSP00000384330:L270I	ENSP00000252173:L270I	L	-	1	0	MYH8	10258524	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.392000	0.73213	2.517000	0.84864	0.655000	0.94253	CTT	MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.353	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10317799	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10317799	G	T	10317799	3	4	131	1	0	0	0	0	1	0	0	0	10064	942	33	3	5129	3	MYH8	17	10317799	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	107510	10317799	70877411	1637	21777										
MYH4	4622	genome.wustl.edu	37	chr17	10356223	10356223	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctaagtccatgcaaagtttCttttcttgttccagagatcc	6	10	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10356223C>A	ENST00000255381.2	-	25	3248	c.3138G>T	c.(3136-3138)aaG>aaT	p.K1046N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1046					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCAAAGTTTCTTTTCTTGTT	0.378																																																	0													189	186	187					17																	10356223		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3138G>T	17.37:g.10356223C>A	ENSP00000255381:p.Lys1046Asn			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1046N	ENST00000255381.2	37	c.3138	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027850	0.75390	.	.	ENSG00000141048	ENST00000255381	D	0.93366	-3.21	5.42	5.42	0.78866	.	0.000000	0.39146	U	0.001450	D	0.96993	0.9018	M	0.94142	3.5	0.58432	D	0.999999	P	0.49783	0.928	P	0.53689	0.732	D	0.97896	1.0300	10	0.87932	D	0	.	18.1491	0.89668	0.0:1.0:0.0:0.0	.	1046	Q9Y623	MYH4_HUMAN	N	1046	ENSP00000255381:K1046N	ENSP00000255381:K1046N	K	-	3	2	MYH4	10296948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.538000	0.67193	2.699000	0.92147	0.563000	0.77884	AAG	MYH4	-	NULL		0.378	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10356223	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10356223	C	A	10356223	3	1	131	1	0	0	0	0	1	0	0	0	10060	912	32	3	2745	3	MYH4	17	10356223	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	38424	10356223	70838987	1638	21778										
MYH3	4621	genome.wustl.edu	37	chr17	10537357	10537357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaagttcttattttcccgtTtcacagtttcaagttgatct	5	9	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10537357T>G	ENST00000583535.1	-	32	4586	c.4499A>C	c.(4498-4500)aAa>aCa	p.K1500T	MYH3_ENST00000226209.7_Missense_Mutation_p.K1500T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1500					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATTTTCCCGTTTCACAGTTTC	0.493																																																	0													181	155	164					17																	10537357		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4499A>C	17.37:g.10537357T>G	ENSP00000464317:p.Lys1500Thr		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1500T	ENST00000583535.1	37	c.4499	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698985	0.88830	.	.	ENSG00000109063	ENST00000226209	T	0.78364	-1.17	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.90202	0.6937	M	0.92555	3.32	0.46874	D	0.999237	D	0.59767	0.986	D	0.67548	0.952	D	0.92639	0.6123	9	0.87932	D	0	.	15.5461	0.76101	0.0:0.0:0.0:1.0	.	1500	P11055	MYH3_HUMAN	T	1500	ENSP00000226209:K1500T	ENSP00000226209:K1500T	K	-	2	0	MYH3	10478082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.168000	0.64978	2.120000	0.65058	0.533000	0.62120	AAA	MYH3	-	pfam_Myosin_tail		0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	T	NM_002470		10537357	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10537357	T	G	10537357	3	3	131	1	0	0	0	0	1	0	0	0	10059	1841	64	5	1363	5	MYH3	17	10537357	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	181134	10537357	70657853	1639	21779										
DNAH9	1770	genome.wustl.edu	37	chr17	11700923	11700923	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcatcaccaggatattgaaGaccctgtggagcagacccaa	9	12	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:11700923G>T	ENST00000262442.4	+	43	8301	c.8233G>T	c.(8233-8235)Gac>Tac	p.D2745Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2745Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2745					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATATTGAAGACCCTGTGGA	0.488																																																	0													87	76	80					17																	11700923		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8233G>T	17.37:g.11700923G>T	ENSP00000262442:p.Asp2745Tyr		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D2745Y	ENST00000262442.4	37	c.8233	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659921	0.47572	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.29655	1.6;1.56	5.29	4.11	0.48088	.	0.503746	0.20910	N	0.083500	T	0.30759	0.0775	L	0.42245	1.32	0.80722	D	1	B	0.25772	0.134	B	0.31191	0.125	T	0.24440	-1.0160	10	0.87932	D	0	.	14.7906	0.69841	0.0815:0.0:0.9185:0.0	.	2745	Q9NYC9	DYH9_HUMAN	Y	2745;2745;1327	ENSP00000262442:D2745Y;ENSP00000414874:D2745Y	ENSP00000262442:D2745Y	D	+	1	0	DNAH9	11641648	1.000000	0.71417	0.047000	0.18901	0.005000	0.04900	6.641000	0.74324	2.475000	0.83589	0.650000	0.86243	GAC	DNAH9	-	NULL		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11700923	1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	0.998	T	T	11700923	G	T	11700923	3	4	131	1	0	0	0	0	1	0	0	0	4618	942	33	3	8403	3	DNAH9	17	11700923	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1163566	11700923	69494287	1640	21780										
MYOCD	93649	genome.wustl.edu	37	chr17	12666899	12666899	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagcatcttcaacatcgatTtcctggatgtcactgatctc	6	13	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:12666899T>G	ENST00000343344.4	+	13	2755	c.2755T>G	c.(2755-2757)Ttc>Gtc	p.F919V	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.F967V			Q8IZQ8	MYCD_HUMAN	myocardin	919					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAACATCGATTTCCTGGATGT	0.522																																																	0													57	52	54					17																	12666899		2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2755T>G	17.37:g.12666899T>G	ENSP00000341835:p.Phe919Val		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.F967V	ENST00000343344.4	37	c.2899	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639820	0.87760	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.64438	-0.1;-0.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.83275	0.907;0.996;0.905	T	0.83003	-0.0176	10	0.87932	D	0	-35.0825	15.6264	0.76863	0.0:0.0:0.0:1.0	.	643;967;919	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	V	643;967;919;629	ENSP00000341835:F919V;ENSP00000400148:F629V	ENSP00000341835:F919V	F	+	1	0	MYOCD	12607624	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.649000	0.83500	2.333000	0.79357	0.533000	0.62120	TTC	MYOCD	-	NULL		0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	T	NM_153604		12666899	1	no_errors	ENST00000425538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12666899	T	G	12666899	3	3	131	1	0	0	0	0	1	0	0	0	10110	1841	64	5	2965	5	MYOCD	17	12666899	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	965976	12666899	68528311	1641	21781										
TRPV2	51393	genome.wustl.edu	37	chr17	16336993	16336993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaagccagatggcagccccGatgagcgctggtgcttcagg	14	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:16336993G>A	ENST00000338560.7	+	13	2494	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	TRPV2_ENST00000577397.1_Missense_Mutation_p.D269N	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	699					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGCAGCCCCGATGAGCGCTG	0.622																																																	0													107	94	99					17																	16336993		2203	4300	6503	SO:0001583	missense	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2095G>A	17.37:g.16336993G>A	ENSP00000342222:p.Asp699Asn		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.D699N	ENST00000338560.7	37	c.2095	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061858	0.55432	.	.	ENSG00000187688	ENST00000338560	D	0.89810	-2.57	5.79	5.79	0.91817	.	0.089600	0.85682	D	0.000000	D	0.92267	0.7547	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	P	0.61477	0.889	D	0.91890	0.5523	10	0.51188	T	0.08	-22.2117	17.5351	0.87827	0.0:0.0:1.0:0.0	.	699	Q9Y5S1	TRPV2_HUMAN	N	699	ENSP00000342222:D699N	ENSP00000342222:D699N	D	+	1	0	TRPV2	16277718	1.000000	0.71417	0.979000	0.43373	0.834000	0.47266	8.958000	0.93099	2.751000	0.94390	0.650000	0.86243	GAT	TRPV2	-	prints_TRPV1-4_channel,tigrfam_TRP_channel		0.622	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	G	NM_016113		16336993	1	no_errors	ENST00000338560	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16336993	G	A	16336993	3	1	131	1	0	0	0	0	1	0	0	0	16627	1058	37	1	2141	1	TRPV2	17	16336993	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3670094	16336993	64858217	1642	21782										
LRRC48	83450	genome.wustl.edu	37	chr17	17919381	17919381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcttttcactcaccagcttTttgtcgataaagatacgatt	5	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:17919381T>C	ENST00000399187.1	+	13	1548	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	LRRC48_ENST00000583995.1_3'UTR|LRRC48_ENST00000313838.8_Missense_Mutation_p.F444L|ATPAF2_ENST00000469327.1_5'Flank	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	444						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCACCAGCTTTTTGTCGATAA	0.458																																																	0													139	128	132					17																	17919381		1942	4134	6076	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1330T>C	17.37:g.17919381T>C	ENSP00000382140:p.Phe444Leu		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.F444L	ENST00000399187.1	37	c.1330	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624666	0.46840	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000399187;ENST00000399185	T;T	0.52983	0.64;0.64	5.6	5.6	0.85130	.	0.096661	0.64402	D	0.000001	T	0.27900	0.0687	N	0.17082	0.46	0.80722	D	1	B	0.31193	0.312	B	0.27380	0.079	T	0.13899	-1.0492	10	0.16420	T	0.52	-12.6142	9.871	0.41175	0.0:0.0809:0.0:0.9191	.	444	Q9H069	LRC48_HUMAN	L	444	ENSP00000326870:F444L;ENSP00000382140:F444L	ENSP00000326870:F444L	F	+	1	0	LRRC48	17860106	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	3.253000	0.51469	2.120000	0.65058	0.533000	0.62120	TTT	LRRC48	-	NULL		0.458	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	T	NM_031294		17919381	1	no_errors	ENST00000313838	ensembl	human	known	70_37	missense	SNP	0.997	C	C	17919381	T	C	17919381	3	2	131	1	0	0	0	0	1	0	0	0	9028	1841	64	5	1424	5	LRRC48	17	17919381	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1582388	17919381	63275829	1643	21783										
DHRS7B	25979	genome.wustl.edu	37	chr17	21094389	21094389	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttccttggctgtttatcttCgaactctggctcctgggctc	9	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:21094389C>G	ENST00000395511.3	+	7	1221	c.901C>G	c.(901-903)Cga>Gga	p.R301G	DHRS7B_ENST00000579303.1_Missense_Mutation_p.R286G|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	301						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TGTTTATCTTCGAACTCTGGC	0.547																																																	0													234	211	219					17																	21094389		2203	4300	6503	SO:0001583	missense	25979			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.901C>G	17.37:g.21094389C>G	ENSP00000378887:p.Arg301Gly		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R301G	ENST00000395511.3	37	c.901	CCDS11215.1	17	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659119	0.67586	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	T	0.53640	0.61	5.8	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81872	-0.0733	10	0.66056	D	0.02	.	15.2619	0.73631	0.392:0.608:0.0:0.0	.	301	Q6IAN0	DRS7B_HUMAN	G	301	ENSP00000378887:R301G	ENSP00000320352:R301G	R	+	1	2	DHRS7B	21034981	0.963000	0.33076	0.841000	0.33234	0.996000	0.88848	1.949000	0.40313	1.404000	0.46819	0.655000	0.94253	CGA	DHRS7B	-	NULL		0.547	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHRS7B	HGNC	protein_coding	OTTHUMT00000444066.3	C	NM_015510		21094389	1	no_errors	ENST00000395511	ensembl	human	known	70_37	missense	SNP	0.917	G	G	21094389	C	G	21094389	3	3	131	1	0	0	0	0	1	0	0	0	4506	876	31	1	927	1	DHRS7B	17	21094389	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3175008	21094389	60100821	1644	21784										
SPAG5	10615	genome.wustl.edu	37	chr17	26913507	26913507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctccttaagatgctgaagtTtattagttatctagccagaa	7	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:26913507T>G	ENST00000321765.5	-	5	1780	c.1448A>C	c.(1447-1449)aAa>aCa	p.K483T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	483	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTGAAGTTTATTAGTTAT	0.433																																																	0													167	146	153					17																	26913507		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1448A>C	17.37:g.26913507T>G	ENSP00000323300:p.Lys483Thr		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.K483T	ENST00000321765.5	37	c.1448	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	T	11.57	1.679017	0.29783	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.39	2.99	0.34606	.	0.412940	0.23265	N	0.050081	T	0.22003	0.0530	N	0.12746	0.255	0.24021	N	0.99614	B	0.17667	0.023	B	0.12156	0.007	T	0.21245	-1.0251	9	0.14656	T	0.56	-0.6802	10.0849	0.42412	0.0:0.0:0.4391:0.5609	.	483	Q96R06	SPAG5_HUMAN	T	483	.	ENSP00000323300:K483T	K	-	2	0	SPAG5	23937634	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	1.327000	0.33746	0.276000	0.22118	0.533000	0.62120	AAA	SPAG5	-	NULL		0.433	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	T	NM_006461		26913507	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.990	G	G	26913507	T	G	26913507	3	3	131	1	0	0	0	0	1	0	0	0	15011	1841	64	5	2213	5	SPAG5	17	26913507	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5819118	26913507	54281703	1645	21785										
EFCAB5	374786	genome.wustl.edu	37	chr17	28320319	28320319	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatggattctagaccctaaaGgaatgattcctaagtcagtg	9	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:28320319G>T	ENST00000394835.3	+	5	1096	c.904G>T	c.(904-906)Gga>Tga	p.G302*	EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.G302*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.G302*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.G302*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.G246*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	302							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGACCCTAAAGGAATGATTCC	0.418																																																	0													91	85	87					17																	28320319		1866	4115	5981	SO:0001587	stop_gained	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.904G>T	17.37:g.28320319G>T	ENSP00000378312:p.Gly302*		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.G302*	ENST00000394835.3	37	c.904	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221684	0.58560	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.26	4.27	0.50696	.	0.000000	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.3247	9.9147	0.41427	0.0939:0.0:0.9061:0.0	.	.	.	.	X	246;43;302;302;302;302;246;108	.	ENSP00000322003:G302X	G	+	1	0	EFCAB5	25344445	0.992000	0.36948	1.000000	0.80357	0.669000	0.39330	2.632000	0.46511	2.727000	0.93392	0.655000	0.94253	GGA	EFCAB5	-	NULL		0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	G	NM_198529		28320319	1	no_errors	ENST00000394835	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	28320319	G	T	28320319	4	4	131	1	0	0	0	0	0	1	0	0	4948	1001	35	4	922	4	EFCAB5	17	28320319	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1406812	28320319	52874891	1646	21786										
C17orf42	79736	genome.wustl.edu	37	chr17	29226337	29226337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggaagaacacccgaggatcCgccttcagtatagaatcgaa	11	10	1	2	rs555100670		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29226337C>T	ENST00000581216.1	-	4	1554	c.933G>A	c.(931-933)gcG>gcA	p.A311A	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	311					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CCCGAGGATCCGCCTTCAGTA	0.403													C|||	1	0.000199681	0	0	5008	,	,		17533	0		0	False		,,,				2504	0.001																0													123	123	123					17																	29226337		1874	4091	5965	SO:0001819	synonymous_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.933G>A	17.37:g.29226337C>T			E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_RNaseH-like_dom	p.A311	ENST00000581216.1	37	c.933	CCDS42291.1	17																																																																																			TEFM	-	superfamily_RNaseH-like_dom		0.403	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	C	NM_024683		29226337	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	silent	SNP	0.000	T	T	29226337	C	T	29226337	2	4	131	1	0	0	0	0	0	0	0	1	1860	639	23	2		2	C17orf42	17	29226337	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	906018	29226337	51968873	1647	21787										
C17orf42	79736	genome.wustl.edu	37	chr17	29226360	29226360	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcagtatagaatcgaagaGaaactgcttcactagctctt	7	9	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29226360G>T	ENST00000581216.1	-	4	1531	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	304					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										GAATCGAAGAGAAACTGCTTC	0.433																																																	0													132	131	131					17																	29226360		1893	4109	6002	SO:0001583	missense	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.910C>A	17.37:g.29226360G>T	ENSP00000462963:p.Leu304Ile		E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.L304I	ENST00000581216.1	37	c.910	CCDS42291.1	17	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779541	0.31502	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.06	5.07	0.68467	Ribonuclease H-like (1);	0.052286	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.80722	D	1	P	0.47106	0.89	P	0.46076	0.503	T	0.62978	-0.6739	9	0.45353	T	0.12	-13.7137	16.4954	0.84238	0.0:0.0:0.8685:0.1315	.	304	Q96QE5	TEFM_HUMAN	I	304	.	ENSP00000306574:L304I	L	-	1	0	C17orf42	26250486	0.999000	0.42202	0.999000	0.59377	0.077000	0.17291	2.174000	0.42482	2.880000	0.98712	0.650000	0.86243	CTC	TEFM	-	superfamily_RNaseH-like_dom		0.433	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	G	NM_024683		29226360	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29226360	G	T	29226360	3	4	131	1	0	0	0	0	1	0	0	0	1860	942	33	3	176	3	C17orf42	17	29226360	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	23	29226360	51968850	1648	21788										
ADAP2	55803	genome.wustl.edu	37	chr17	29250063	29250063	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agttaaatctgtgcgacttgActtctgggacgacagtattg	11	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29250063A>T	ENST00000330889.3	+	2	535	c.200A>T	c.(199-201)gAc>gTc	p.D67V	ADAP2_ENST00000580525.1_Missense_Mutation_p.D67V	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	67	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GTGCGACTTGACTTCTGGGAC	0.567																																																	1	Unknown(1)	central_nervous_system(1)											157	155	155					17																	29250063		2203	4300	6503	SO:0001583	missense	55803			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.200A>T	17.37:g.29250063A>T	ENSP00000329468:p.Asp67Val		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.D67V	ENST00000330889.3	37	c.200	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661469	0.47572	.	.	ENSG00000184060	ENST00000330889	T	0.60040	0.22	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.997;0.998	D	0.91731	0.5396	10	0.87932	D	0	.	13.6973	0.62587	1.0:0.0:0.0:0.0	.	67;67;67	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	V	67	ENSP00000329468:D67V	ENSP00000329468:D67V	D	+	2	0	ADAP2	26274189	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.864000	0.75494	2.129000	0.65627	0.459000	0.35465	GAC	ADAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	A	NM_018404		29250063	1	no_errors	ENST00000330889	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29250063	A	T	29250063	3	4	131	1	0	0	0	0	1	0	0	0	280	275	10	5	206	5	ADAP2	17	29250063	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	23703	29250063	51945147	1649	21789										
NF1	4763	genome.wustl.edu	37	chr17	29556485	29556485	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttgactcccaaggacaggTaaagtgttctcttatttttc	7	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29556485T>G	ENST00000358273.4	+	21	3233		c.e21+2		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAGGACAGGTAAAGTGTTCT	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											73	75	75					17																	29556485		2199	4297	6496	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2850+2T>G	17.37:g.29556485T>G			O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	-	e21+2	ENST00000358273.4	37	c.2850+2	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808000	0.70797	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5701	0.76326	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26580611	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.665000	0.83852	2.096000	0.63516	0.374000	0.22700	.	NF1	-	-		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	T	NM_000267	Intron	29556485	1	no_errors	ENST00000358273	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	29556485	T	G	29556485	5	3	131	1	0	0	0	0	0	0	1	0	10380	1652	57	5	2995	5	NF1	17	29556485	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	306422	29556485	51638725	1650	21790										
NF1	4763	genome.wustl.edu	37	chr17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttacagtgtctgaagaagttCgaagtcgctgcagcctaaaa	10	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	GRCh37	CD000998|CM000818	NF1	D|M							159	145	150					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R2450*	ENST00000358273.4	37	c.7348	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA	NF1	-	superfamily_ARM-type_fold		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29677227	1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29677227	C	T	29677227	4	4	131	1	0	0	0	0	0	1	0	0	10380	876	31	1	7607	1	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	120742	29677227	51517983	1651	21791										
TMEM98	26022	genome.wustl.edu	37	chr17	31260256	31260256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctctgagttagaactggacGatgtcgttatcaccaacccc	8	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:31260256G>A	ENST00000579849.1	+	4	627	c.196G>A	c.(196-198)Gat>Aat	p.D66N	TMEM98_ENST00000394642.3_Missense_Mutation_p.D66N|TMEM98_ENST00000578289.1_Missense_Mutation_p.D66N	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	66						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AGAACTGGACGATGTCGTTAT	0.522																																																	0													155	137	143					17																	31260256		2203	4300	6503	SO:0001583	missense	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.196G>A	17.37:g.31260256G>A	ENSP00000463245:p.Asp66Asn		E1P631|Q9UFK2	Missense_Mutation	SNP	NULL	p.D66N	ENST00000579849.1	37	c.196	CCDS11274.1	17	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417321	0.62622	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.49720	0.79;0.8;0.77;0.79	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.14661	0.345	0.58432	D	0.999999	P	0.41420	0.749	B	0.28784	0.094	T	0.12915	-1.0529	10	0.49607	T	0.09	-4.3887	10.7507	0.46207	0.0921:0.0:0.9079:0.0	.	66	Q9Y2Y6	TMM98_HUMAN	N	66	ENSP00000378138:D66N;ENSP00000261713:D66N;ENSP00000398446:D66N;ENSP00000406394:D66N	ENSP00000261713:D66N	D	+	1	0	TMEM98	28284369	1.000000	0.71417	0.934000	0.37439	0.853000	0.48598	7.331000	0.79192	1.953000	0.56701	0.460000	0.39030	GAT	TMEM98	-	NULL		0.522	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	G	NM_015544		31260256	1	no_errors	ENST00000394642	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31260256	G	A	31260256	3	1	131	1	0	0	0	0	1	0	0	0	16255	1058	37	1	202	1	TMEM98	17	31260256	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1583029	31260256	49934954	1652	21792										
CCL2	6347	genome.wustl.edu	37	chr17	32582377	32582377	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcgcctccagcatgaaagtCtctgccgcccttctgtgcct	8	17	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:32582377C>A	ENST00000225831.4	+	1	74	c.9C>A	c.(7-9)gtC>gtA	p.V3V	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_Silent_p.V3V	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	GCATGAAAGTCTCTGCCGCCC	0.562																																																	0													84	70	75					17																	32582377		2203	4300	6503	SO:0001819	synonymous_variant	6347			BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"Chemokine ligands", "Endogenous ligands"	10618	protein-coding gene	gene with protein product	"monocyte chemotactic protein 1, homologous to mouse Sig-je", "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2"	158105	"small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.9C>A	17.37:g.32582377C>A			B2R4V3|Q9UDF3	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.V3	ENST00000225831.4	37	c.9	CCDS11277.1	17																																																																																			CCL2	-	NULL		0.562	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL2	HGNC	protein_coding	OTTHUMT00000256384.2	C	NM_002982		32582377	1	no_errors	ENST00000225831	ensembl	human	known	70_37	silent	SNP	0.974	A	A	32582377	C	A	32582377	2	1	131	1	0	0	0	0	0	0	0	1	2896	900	32	3		3	CCL2	17	32582377	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1322121	32582377	48612833	1653	21793										
SLFN5	162394	genome.wustl.edu	37	chr17	33592569	33592569	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagcgaataaatgccgttttCtcttgcggaatggttattct	9	7	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33592569C>A	ENST00000299977.4	+	5	2486	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	780					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATGCCGTTTTCTCTTGCGGAA	0.408																																																	0													135	132	133					17																	33592569		2203	4300	6503	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2338C>A	17.37:g.33592569C>A	ENSP00000299977:p.Leu780Ile		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.L780I	ENST00000299977.4	37	c.2338	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	c	12.99	2.104829	0.37145	.	.	ENSG00000166750	ENST00000299977	D	0.85258	-1.96	3.14	1.04	0.20106	.	0.275021	0.19381	N	0.115649	T	0.79197	0.4405	M	0.70595	2.14	0.09310	N	0.999998	P	0.46784	0.884	B	0.38056	0.264	T	0.70699	-0.4800	10	0.54805	T	0.06	.	5.4931	0.16787	0.0:0.7222:0.0:0.2778	.	780	Q08AF3	SLFN5_HUMAN	I	780	ENSP00000299977:L780I	ENSP00000299977:L780I	L	+	1	0	SLFN5	30616682	0.003000	0.15002	0.020000	0.16555	0.013000	0.08279	0.423000	0.21313	0.174000	0.19809	-0.150000	0.13652	CTC	SLFN5	-	NULL		0.408	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	C	NM_144975		33592569	1	no_errors	ENST00000299977	ensembl	human	known	70_37	missense	SNP	0.018	A	A	33592569	C	A	33592569	3	1	131	1	0	0	0	0	1	0	0	0	14767	913	32	3	2352	3	SLFN5	17	33592569	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1010192	33592569	47602641	1654	21794										
SLFN11	91607	genome.wustl.edu	37	chr17	33680989	33680989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgaaagaaaggttgcatttGcttatttattaactcctcta	6	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33680989G>T	ENST00000394566.1	-	6	1560	c.1288C>A	c.(1288-1290)Caa>Aaa	p.Q430K	SLFN11_ENST00000308377.4_Missense_Mutation_p.Q430K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	430					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTGCATTTGCTTATTTATT	0.463																																																	0													88	90	89					17																	33680989		2203	4300	6503	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1288C>A	17.37:g.33680989G>T	ENSP00000378067:p.Gln430Lys		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.Q430K	ENST00000394566.1	37	c.1288	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508141	0.27036	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02015	4.5;4.5	3.54	-4.16	0.03869	.	0.718348	0.11949	N	0.513920	T	0.03477	0.0100	M	0.78801	2.425	0.09310	N	1	P	0.40578	0.722	B	0.30316	0.114	T	0.23726	-1.0180	10	0.72032	D	0.01	.	15.8098	0.78552	0.0:0.784:0.216:0.0	.	430	Q7Z7L1	SLN11_HUMAN	K	430	ENSP00000312402:Q430K;ENSP00000378067:Q430K	ENSP00000312402:Q430K	Q	-	1	0	SLFN11	30705102	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.473000	0.06615	-0.413000	0.07507	0.650000	0.86243	CAA	SLFN11	-	NULL		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	G	NM_152270		33680989	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	missense	SNP	0.000	T	T	33680989	G	T	33680989	3	4	131	1	0	0	0	0	1	0	0	0	14763	1328	46	4	1425	4	SLFN11	17	33680989	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	88420	33680989	47514221	1655	21795										
SLFN11	91607	genome.wustl.edu	37	chr17	33690272	33690272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtcagcaggatccgagttTgggtcagcaggatccgagtt	15	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33690272T>C	ENST00000394566.1	-	4	827	c.555A>G	c.(553-555)ccA>ccG	p.P185P	SLFN11_ENST00000308377.4_Silent_p.P185P	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	185					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATCCGAGTTTGGGTCAGCAG	0.413																																																	0													122	125	124					17																	33690272		2203	4300	6503	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.555A>G	17.37:g.33690272T>C			E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.P185	ENST00000394566.1	37	c.555	CCDS11294.1	17																																																																																			SLFN11	-	NULL		0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	T	NM_152270		33690272	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	silent	SNP	0.000	C	C	33690272	T	C	33690272	2	2	131	1	0	0	0	0	0	0	0	1	14763	1799	63	5		5	SLFN11	17	33690272	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	9283	33690272	47504938	1656	21796										
SLFN12	55106	genome.wustl.edu	37	chr17	33738406	33738406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctttttatcattcttctgaAagcaatctataccgattatc	3	9	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33738406A>C	ENST00000394562.1	-	6	2211	c.1688T>G	c.(1687-1689)tTt>tGt	p.F563C	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.F563C|SLFN12_ENST00000304905.5_Missense_Mutation_p.F563C|RP11-686D22.8_ENST00000587012.1_RNA			Q8IYM2	SLN12_HUMAN	schlafen family member 12	563							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTCTTCTGAAAGCAATCTAT	0.348																																																	0													52	57	55					17																	33738406		2203	4300	6503	SO:0001583	missense	55106			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1688T>G	17.37:g.33738406A>C	ENSP00000378063:p.Phe563Cys		A8K711|Q9NP47	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.F563C	ENST00000394562.1	37	c.1688	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903220	0.33628	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.04360	3.64;3.64;3.64	2.92	-2.23	0.06930	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.53745	0.962	P	0.48189	0.57	T	0.46133	-0.9213	9	0.30854	T	0.27	.	7.5976	0.28056	0.4302:0.0:0.5698:0.0	.	563	Q8IYM2	SLN12_HUMAN	C	563	ENSP00000378063:F563C;ENSP00000302077:F563C;ENSP00000394903:F563C	ENSP00000302077:F563C	F	-	2	0	SLFN12	30762519	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.387000	0.07361	-0.409000	0.07553	-0.495000	0.04643	TTT	SLFN12	-	NULL		0.348	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	A	NM_018042		33738406	-1	no_errors	ENST00000304905	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33738406	A	C	33738406	3	2	131	1	0	0	0	0	1	0	0	0	14764	14	1	5	52	5	SLFN12	17	33738406	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	48134	33738406	47456804	1657	21797										
AP2B1	163	genome.wustl.edu	37	chr17	33968959	33968959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaaaccatcagaaacacagGagctagtccagcaggtcttg	10	10	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33968959G>A	ENST00000262325.7	+	12	2054	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	AP2B1_ENST00000312678.8_Missense_Mutation_p.E501K|AP2B1_ENST00000592545.1_Missense_Mutation_p.E463K|AP2B1_ENST00000589344.1_Missense_Mutation_p.E501K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.E501K|AP2B1_ENST00000538556.1_Missense_Mutation_p.E444K	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	501					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGAAACACAGGAGCTAGTCCA	0.393																																																	0													91	84	86					17																	33968959		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1501G>A	17.37:g.33968959G>A	ENSP00000262325:p.Glu501Lys		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.E501K	ENST00000262325.7	37	c.1501	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691876	0.88735	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.52	5.52	0.82312	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	L	0.27053	0.805	0.80722	D	1	P;B;B;B	0.41498	0.752;0.11;0.107;0.053	B;B;B;B	0.35971	0.149;0.215;0.026;0.017	T	0.03684	-1.1013	10	0.51188	T	0.08	-8.8676	18.7923	0.91978	0.0:0.0:1.0:0.0	.	238;463;501;501	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	K	501;501;444;501;238	ENSP00000262325:E501K;ENSP00000314414:E501K;ENSP00000440563:E444K;ENSP00000437413:E501K	ENSP00000262325:E501K	E	+	1	0	AP2B1	30993072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.545000	0.98095	2.754000	0.94517	0.650000	0.86243	GAG	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.393	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	G			33968959	1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33968959	G	A	33968959	3	1	131	1	0	0	0	0	1	0	0	0	741	1175	41	1	1543	1	AP2B1	17	33968959	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	230553	33968959	47226251	1658	21798										
GPR179	440435	genome.wustl.edu	37	chr17	36482659	36482659	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggagctgtggggaaaaattCtctccgagttgctgttaaag	13	6	1	0	rs561096333		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:36482659C>A	ENST00000342292.4	-	11	6813	c.6793G>T	c.(6793-6795)Gaa>Taa	p.E2265*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2265					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAAAAATTCTCTCCGAGTT	0.483																																																	0													94	91	92					17																	36482659		1852	4101	5953	SO:0001587	stop_gained	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6793G>T	17.37:g.36482659C>A	ENSP00000345060:p.Glu2265*			Nonsense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E2265*	ENST00000342292.4	37	c.6793	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	45	11.839092	0.99609	.	.	ENSG00000188888	ENST00000342292	.	.	.	5.16	3.17	0.36434	.	0.563025	0.15093	N	0.280979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.6084	4.9886	0.14202	0.1528:0.6194:0.1477:0.0801	.	.	.	.	X	2265	.	ENSP00000345060:E2265X	E	-	1	0	GPR179	33736185	0.874000	0.30092	0.009000	0.14445	0.109000	0.19521	1.793000	0.38764	0.754000	0.32968	0.585000	0.79938	GAA	GPR179	-	NULL		0.483	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36482659	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	nonsense	SNP	0.064	A	A	36482659	C	A	36482659	4	1	131	1	0	0	0	0	0	1	0	0	6693	922	32	3	314	3	GPR179	17	36482659	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2513700	36482659	44712551	1659	21799										
CWC25	54883	genome.wustl.edu	37	chr17	36971289	36971289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggggcgccccagcaggtactCgtcacggttcaccatcccac	11	17	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:36971289C>T	ENST00000225428.5	-	3	550	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CWC25_ENST00000536127.1_Missense_Mutation_p.E22K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	85										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AGCAGGTACTCGTCACGGTTC	0.463																																																	0													134	134	134					17																	36971289		1906	4115	6021	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.253G>A	17.37:g.36971289C>T	ENSP00000225428:p.Glu85Lys		A0JLM3|Q68DK5	Missense_Mutation	SNP	pfam_CWC25,pfam_CIR_N_dom	p.E85K	ENST00000225428.5	37	c.253	CCDS45663.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.304218	0.95601	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.32	5.32	0.75619	.	0.046432	0.85682	D	0.000000	D	0.84037	0.5384	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.83336	-0.0010	9	0.27785	T	0.31	.	17.5768	0.87952	0.0:1.0:0.0:0.0	.	22;85	B4DJK2;Q9NXE8	.;CWC25_HUMAN	K	85;22	.	ENSP00000225428:E85K	E	-	1	0	CWC25	34224815	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.070000	0.76763	2.518000	0.84900	0.561000	0.74099	GAG	CWC25	-	pfam_CWC25		0.463	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	C	NM_017748		36971289	-1	no_errors	ENST00000225428	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36971289	C	T	36971289	3	4	131	1	0	0	0	0	1	0	0	0	4074	893	31	1	1056	1	CWC25	17	36971289	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	488630	36971289	44223921	1660	21800										
KRT24	192666	genome.wustl.edu	37	chr17	38859538	38859538	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttgcttttcccctccagaGaaaagccccccatcgccaac	6	17	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:38859538G>T	ENST00000264651.2	-	1	464	c.408C>A	c.(406-408)ttC>ttA	p.F136L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	136	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCCCTCCAGAGAAAAGCCCCC	0.532																																					GBM(61;380 1051 14702 23642 31441)												0													194	207	203					17																	38859538		2203	4300	6503	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.408C>A	17.37:g.38859538G>T	ENSP00000264651:p.Phe136Leu		Q9NXG7	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F136L	ENST00000264651.2	37	c.408	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867016	0.17250	.	.	ENSG00000167916	ENST00000264651	T	0.79454	-1.27	5.6	5.6	0.85130	.	.	.	.	.	T	0.52191	0.1719	N	0.04203	-0.255	0.32098	N	0.591011	B	0.02656	0.0	B	0.04013	0.001	T	0.49457	-0.8938	9	0.02654	T	1	.	10.5498	0.45081	0.1483:0.0:0.8517:0.0	.	136	Q2M2I5	K1C24_HUMAN	L	136	ENSP00000264651:F136L	ENSP00000264651:F136L	F	-	3	2	KRT24	36113064	0.755000	0.28372	1.000000	0.80357	0.857000	0.48899	0.006000	0.13152	2.800000	0.96347	0.655000	0.94253	TTC	KRT24	-	NULL		0.532	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	G	NM_019016		38859538	-1	no_errors	ENST00000264651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38859538	G	T	38859538	3	4	131	1	0	0	0	0	1	0	0	0	8481	933	33	3	1201	3	KRT24	17	38859538	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1888249	38859538	42335672	1661	21801										
KRT25	147183	genome.wustl.edu	37	chr17	38904606	38904606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgttggtctacctcctcaaGaactttcttaaccactatgg	7	12	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:38904606G>T	ENST00000312150.4	-	8	1336	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACCTCCTCAAGAACTTTCTTA	0.353																																																	0													165	155	158					17																	38904606		2203	4300	6503	SO:0001583	missense	147183			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1276C>A	17.37:g.38904606G>T	ENSP00000310573:p.Leu426Ile			Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.L426I	ENST00000312150.4	37	c.1276	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754322	0.49362	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.82081	-1.57	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000053	T	0.76357	0.3976	L	0.36672	1.1	0.29777	N	0.834272	B	0.06786	0.001	B	0.12156	0.007	T	0.69756	-0.5059	10	0.40728	T	0.16	.	13.6544	0.62328	0.0:0.199:0.8009:0.0	.	426	Q7Z3Z0	K1C25_HUMAN	I	355;426	ENSP00000310573:L426I	ENSP00000310573:L426I	L	-	1	0	KRT25	36158132	0.978000	0.34361	0.979000	0.43373	0.995000	0.86356	1.707000	0.37888	2.746000	0.94184	0.655000	0.94253	CTT	KRT25	-	NULL		0.353	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	G	NM_181534		38904606	-1	no_errors	ENST00000312150	ensembl	human	known	70_37	missense	SNP	0.980	T	T	38904606	G	T	38904606	3	4	131	1	0	0	0	0	1	0	0	0	8482	942	33	3	80	3	KRT25	17	38904606	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	45068	38904606	42290604	1662	21802										
KRT35	3886	genome.wustl.edu	37	chr17	39636896	39636896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccttcttctggagctcctCgatggtccggaagtaggact	11	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:39636896C>T	ENST00000393989.1	-	1	496	c.454G>A	c.(454-456)Gag>Aag	p.E152K	KRT35_ENST00000246639.2_Missense_Mutation_p.E122K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	152	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGAGCTCCTCGATGGTCCGG	0.552																																																	0													59	64	62					17																	39636896		2201	4297	6498	SO:0001583	missense	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.454G>A	17.37:g.39636896C>T	ENSP00000377558:p.Glu152Lys		O76012|Q92651	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E152K	ENST00000393989.1	37	c.454	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305461	0.40795	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.89123	-2.47;-2.47	5.18	5.18	0.71444	Filament (1);	0.000000	0.64402	D	0.000010	D	0.91774	0.7398	M	0.73319	2.225	0.33893	D	0.637535	P	0.47034	0.889	P	0.50659	0.647	D	0.95146	0.8268	10	0.72032	D	0.01	.	17.8612	0.88781	0.0:1.0:0.0:0.0	.	152	Q92764	KRT35_HUMAN	K	122;152	ENSP00000246639:E122K;ENSP00000377558:E152K	ENSP00000246639:E122K	E	-	1	0	KRT35	36890422	0.038000	0.19896	0.985000	0.45067	0.318000	0.28184	1.756000	0.38390	2.689000	0.91719	0.511000	0.50034	GAG	KRT35	-	pfam_F		0.552	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		C	NM_002280		39636896	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	missense	SNP	0.949	T	T	39636896	C	T	39636896	3	4	131	1	0	0	0	0	1	0	0	0	8492	893	31	1	941	1	KRT35	17	39636896	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	732290	39636896	41558314	1663	21803										
KCNH4	23415	genome.wustl.edu	37	chr17	40330366	40330366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taccgtgattactgtccccgCggcctccttgggggccaagt	12	14	0	1	rs140956512		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:40330366C>T	ENST00000264661.3	-	3	772	c.440G>A	c.(439-441)cGc>cAc	p.R147H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R147H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	147					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGTCCCCGCGGCCTCCTTG	0.567													C|||	1	0.000199681	0	0.0014	5008	,	,		18612	0		0	False		,,,				2504	0				NSCLC(117;707 1703 2300 21308 31858)												0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	48	42	44		440	1.3	0.2	17	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNH4	NM_012285.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	147/1018	40330366	2,13004	2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.440G>A	17.37:g.40330366C>T	ENSP00000264661:p.Arg147His			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R147H	ENST00000264661.3	37	c.440	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	0.654	-0.808268	0.02819	2.27E-4	1.16E-4	ENSG00000089558	ENST00000264661	D	0.98666	-5.06	4.99	1.31	0.21738	.	0.219067	0.23123	N	0.051661	D	0.89476	0.6726	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.85567	0.1231	10	0.31617	T	0.26	.	4.0612	0.09839	0.0:0.1892:0.1781:0.6327	.	147	Q9UQ05	KCNH4_HUMAN	H	147	ENSP00000264661:R147H	ENSP00000264661:R147H	R	-	2	0	KCNH4	37583892	0.000000	0.05858	0.162000	0.22713	0.024000	0.10985	-0.116000	0.10724	0.058000	0.16222	-1.559000	0.00887	CGC	KCNH4	-	NULL		0.567	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	C	NM_012285		40330366	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	0.029	T	T	40330366	C	T	40330366	3	4	131	1	0	0	0	0	1	0	0	0	8054	768	27	2	2669	2	KCNH4	17	40330366	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	693470	40330366	40864844	1664	21804										
MLX	6945	genome.wustl.edu	37	chr17	40721303	40721303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctcccaaaagctcagcaaaGccatcgttctacaaaagagt	7	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:40721303G>A	ENST00000246912.4	+	5	573	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	MLX_ENST00000435881.2_Missense_Mutation_p.A120T|MLX_ENST00000346833.4_Missense_Mutation_p.A90T	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	174	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GCTCAGCAAAGCCATCGTTCT	0.567																																					GBM(121;657 1601 4665 24731 34640)												0													89	86	87					17																	40721303		2203	4300	6503	SO:0001583	missense	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.520G>A	17.37:g.40721303G>A	ENSP00000246912:p.Ala174Thr		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A174T	ENST00000246912.4	37	c.520	CCDS11430.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.818719	0.96982	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;D	0.98512	-4.97;-4.97;-4.97	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.93550	3.43	0.80722	D	1	D;D;D	0.71674	0.996;0.966;0.998	D;D;D	0.72075	0.953;0.948;0.976	D	0.99038	1.0823	10	0.87932	D	0	-25.9098	20.3854	0.98941	0.0:0.0:1.0:0.0	.	90;174;120	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	T	90;174;120	ENSP00000320913:A90T;ENSP00000246912:A174T;ENSP00000416627:A120T	ENSP00000246912:A174T	A	+	1	0	MLX	37974829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.846000	0.99502	2.825000	0.97269	0.655000	0.94253	GCC	MLX	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.567	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLX	HGNC	protein_coding	OTTHUMT00000450415.1	G	NM_170607		40721303	1	no_errors	ENST00000246912	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40721303	G	A	40721303	3	1	131	1	0	0	0	0	1	0	0	0	9658	971	34	4	538	4	MLX	17	40721303	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	390937	40721303	40473907	1665	21805										
HDAC5	10014	genome.wustl.edu	37	chr17	42160003	42160003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caacttctgctgtaggagttTtgcggtgatggctacagagt	13	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42160003T>C	ENST00000393622.2	-	20	2888	c.2557A>G	c.(2557-2559)Aaa>Gaa	p.K853E	HDAC5_ENST00000336057.5_Missense_Mutation_p.K768E|HDAC5_ENST00000225983.6_Missense_Mutation_p.K854E|HDAC5_ENST00000586802.1_Missense_Mutation_p.K853E	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	853	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGTAGGAGTTTTGCGGTGATG	0.577																																																	0													108	95	99					17																	42160003		2203	4300	6503	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2557A>G	17.37:g.42160003T>C	ENSP00000377244:p.Lys853Glu		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K854E	ENST00000393622.2	37	c.2560	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928678	0.92389	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.70516	-0.49;-0.49;-0.49	4.98	4.98	0.66077	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	L	0.46157	1.445	0.80722	D	1	D;P;P;P	0.76494	0.999;0.921;0.825;0.535	D;P;B;P	0.77004	0.989;0.761;0.362;0.622	T	0.80677	-0.1276	10	0.62326	D	0.03	-8.6774	13.6568	0.62344	0.0:0.0:0.0:1.0	.	768;853;854;853	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	E	854;853;768	ENSP00000225983:K854E;ENSP00000377244:K853E;ENSP00000337290:K768E	ENSP00000225983:K854E	K	-	1	0	HDAC5	39515529	1.000000	0.71417	0.991000	0.47740	0.905000	0.53344	8.019000	0.88732	1.879000	0.54435	0.459000	0.35465	AAA	HDAC5	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.577	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	T	NM_001015053		42160003	-1	no_errors	ENST00000225983	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42160003	T	C	42160003	3	2	131	1	0	0	0	0	1	0	0	0	7030	1850	64	5	843	5	HDAC5	17	42160003	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1438700	42160003	39035207	1666	21806										
HDAC5	10014	genome.wustl.edu	37	chr17	42171013	42171013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgtttctggaactcagcgAacaggagctgcttctgcagc	12	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42171013A>G	ENST00000393622.2	-	4	615	c.284T>C	c.(283-285)tTc>tCc	p.F95S	HDAC5_ENST00000336057.5_Missense_Mutation_p.F95S|HDAC5_ENST00000225983.6_Missense_Mutation_p.F96S|HDAC5_ENST00000586802.1_Missense_Mutation_p.F95S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	95					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAACTCAGCGAACAGGAgctg	0.642																																																	0													17	17	17					17																	42171013		2199	4289	6488	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.284T>C	17.37:g.42171013A>G	ENSP00000377244:p.Phe95Ser		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F96S	ENST00000393622.2	37	c.287	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729163	0.69074	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.04406	3.63;3.63;3.63	4.16	4.16	0.48862	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000002	T	0.15609	0.0376	L	0.54323	1.7	0.58432	D	0.999995	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.986;0.992;0.986;0.992	T	0.00461	-1.1725	10	0.59425	D	0.04	-15.1718	12.1553	0.54072	1.0:0.0:0.0:0.0	.	95;95;96;95	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	S	96;95;95	ENSP00000225983:F96S;ENSP00000377244:F95S;ENSP00000337290:F95S	ENSP00000225983:F96S	F	-	2	0	HDAC5	39526539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	1.520000	0.48965	0.379000	0.24179	TTC	HDAC5	-	pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	A	NM_001015053		42171013	-1	no_errors	ENST00000225983	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42171013	A	G	42171013	3	3	131	1	0	0	0	0	1	0	0	0	7030	246	9	5	3180	5	HDAC5	17	42171013	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	11010	42171013	39024197	1667	21807										
ASB16	92591	genome.wustl.edu	37	chr17	42248408	42248408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagatgaagaggccgccaAcatgattgtggagactgtga	13	8	0	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42248408A>G	ENST00000293414.1	+	1	335	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	84					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GAGGCCGCCAACATGATTGTG	0.607																																																	0													38	39	38					17																	42248408		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.251A>G	17.37:g.42248408A>G	ENSP00000293414:p.Asn84Ser		B2RBC0|Q8WXK0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.N84S	ENST00000293414.1	37	c.251	CCDS11478.1	17	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871064	0.91587	.	.	ENSG00000161664	ENST00000293414	T	0.54866	0.55	5.36	5.36	0.76844	Ankyrin repeat-containing domain (2);	0.043881	0.85682	D	0.000000	T	0.65780	0.2724	L	0.51914	1.62	0.53688	D	0.999979	D	0.71674	0.998	D	0.71870	0.975	T	0.65471	-0.6160	10	0.45353	T	0.12	-25.0159	14.4831	0.67597	1.0:0.0:0.0:0.0	.	84	Q96NS5	ASB16_HUMAN	S	84	ENSP00000293414:N84S	ENSP00000293414:N84S	N	+	2	0	ASB16	39603934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.057000	0.89457	2.254000	0.74563	0.459000	0.35465	AAC	ASB16	-	superfamily_Ankyrin_rpt-contain_dom		0.607	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	HGNC	protein_coding	OTTHUMT00000457703.1	A			42248408	1	no_errors	ENST00000293414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42248408	A	G	42248408	3	3	131	1	0	0	0	0	1	0	0	0	1021	43	2	5	253	5	ASB16	17	42248408	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	77395	42248408	38946802	1668	21808										
EFTUD2	9343	genome.wustl.edu	37	chr17	42928702	42928702	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagcaacataggatcatcGaagaatttgctgatgctcac	8	10	2	2	rs528607188		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42928702G>A	ENST00000426333.2	-	28	3156	c.2859C>T	c.(2857-2859)ttC>ttT	p.F953F	EFTUD2_ENST00000592576.1_Silent_p.F943F|EFTUD2_ENST00000402521.3_Silent_p.F918F|EFTUD2_ENST00000591382.1_Silent_p.F953F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	953					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TAGGATCATCGAAGAATTTGC	0.522													G|||	1	0.000199681	0	0	5008	,	,		22209	0		0	False		,,,				2504	0.001				Ovarian(10;65 485 10258 29980 30707)												0													179	156	164					17																	42928702		2203	4300	6503	SO:0001819	synonymous_variant	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2859C>T	17.37:g.42928702G>A			B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.F953	ENST00000426333.2	37	c.2859	CCDS11489.1	17																																																																																			EFTUD2	-	NULL		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	G	NM_004247		42928702	-1	no_errors	ENST00000426333	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42928702	G	A	42928702	2	1	131	1	0	0	0	0	0	0	0	1	4971	1049	37	1		1	EFTUD2	17	42928702	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	680294	42928702	38266508	1669	21809										
IMP5	162540	genome.wustl.edu	37	chr17	43922606	43922606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgaaaggctggctggctcagGgccaaggtgcccacgggctg	17	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:43922606G>T	ENST00000329196.5	+	1	351	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	112	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTGGCTCAGGGCCAAGGTGC	0.682																																																	0													37	40	39					17																	43922606		2203	4299	6502	SO:0001583	missense	162540				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.334G>T	17.37:g.43922606G>T	ENSP00000332488:p.Gly112Cys		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.G112C	ENST00000329196.5	37	c.334	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377231	0.24944	.	.	ENSG00000185294	ENST00000329196	T	0.06371	3.31	4.8	2.78	0.32641	Protease-associated domain, PA (1);	0.153233	0.30401	N	0.009716	T	0.17323	0.0416	M	0.67953	2.075	0.21184	N	0.999766	D	0.67145	0.996	D	0.70016	0.967	T	0.02743	-1.1116	10	0.62326	D	0.03	-12.8773	6.2587	0.20887	0.1003:0.1881:0.7116:0.0	.	112	Q8IUH8	IMP5_HUMAN	C	112	ENSP00000332488:G112C	ENSP00000332488:G112C	G	+	1	0	AC217771.1	41278386	0.992000	0.36948	0.449000	0.26957	0.273000	0.26683	1.087000	0.30865	0.605000	0.29947	0.650000	0.86243	GGC	SPPL2C	-	pfam_Protease-assoc_domain		0.682	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	G	NM_175882		43922606	1	no_errors	ENST00000329196	ensembl	human	known	70_37	missense	SNP	0.453	T	T	43922606	G	T	43922606	3	4	131	1	0	0	0	0	1	0	0	0	7741	1232	43	4	336	4	IMP5	17	43922606	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	993904	43922606	37272604	1670	21810										
PNPO	55163	genome.wustl.edu	37	chr17	46020749	46020749	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgaggaggctgttcagtgTcctgacataggggaagccaa	14	7	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:46020749T>A	ENST00000225573.4	+	2	321	c.216T>A	c.(214-216)tgT>tgA	p.C72*	RP11-6N17.9_ENST00000582262.1_RNA|AC003665.1_ENST00000585280.1_RNA|PNPO_ENST00000434554.2_Nonsense_Mutation_p.C72*|AC003665.1_ENST00000411573.2_RNA|PNPO_ENST00000534893.1_Intron|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|PNPO_ENST00000544840.1_Nonsense_Mutation_p.C72*	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	72					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						CTGTTCAGTGTCCTGACATAG	0.512																																																	0													157	129	139					17																	46020749		2203	4300	6503	SO:0001587	stop_gained	55163			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.216T>A	17.37:g.46020749T>A	ENSP00000225573:p.Cys72*		B4E0V0|B4E152|B4E1D7|D3DTT9	Nonsense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase	p.C72*	ENST00000225573.4	37	c.216	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	T	28.9	4.956781	0.92726	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	.	.	.	4.67	1.0	0.19881	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.0884	7.0127	0.24871	0.0:0.5612:0.0:0.4388	.	.	.	.	X	72	.	ENSP00000225573:C72X	C	+	3	2	PNPO	43375748	0.772000	0.28567	1.000000	0.80357	0.930000	0.56654	-0.105000	0.10907	0.256000	0.21614	0.379000	0.24179	TGT	PNPO	-	superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase		0.512	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	T	NM_018129		46020749	1	no_errors	ENST00000225573	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46020749	T	A	46020749	4	1	131	1	0	0	0	0	0	1	0	0	12196	1673	58	5	222	5	PNPO	17	46020749	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2098143	46020749	35174461	1671	21811										
SNF8	11267	genome.wustl.edu	37	chr17	47014436	47014436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gataatttggacacctagttCgtaatagaagtcccccacgc	8	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:47014436C>T	ENST00000502492.1	-	4	677	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	SNF8_ENST00000514089.1_Intron|AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Missense_Mutation_p.E99K			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	99					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						ACACCTAGTTCGTAATAGAAG	0.468																																																	0													210	202	205					17																	47014436		2203	4300	6503	SO:0001583	missense	11267			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.295G>A	17.37:g.47014436C>T	ENSP00000421380:p.Glu99Lys		Q8IXY3|Q9UN50	Missense_Mutation	SNP	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8	p.E99K	ENST00000502492.1	37	c.295	CCDS11541.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.966249	0.97156	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.46	5.46	0.80206	.	0.045701	0.85682	D	0.000000	D	0.83308	0.5226	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.84800	0.0784	9	0.87932	D	0	-27.3905	19.1052	0.93291	0.0:1.0:0.0:0.0	.	99;99	Q96H20-2;Q96H20	.;SNF8_HUMAN	K	99	.	ENSP00000290330:E99K	E	-	1	0	SNF8	44369435	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.573000	0.82421	2.840000	0.97914	0.655000	0.94253	GAA	SNF8	-	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8		0.468	SNF8-001	KNOWN	basic|CCDS	protein_coding	SNF8	HGNC	protein_coding	OTTHUMT00000361172.1	C	NM_007241		47014436	-1	no_errors	ENST00000502492	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47014436	C	T	47014436	3	4	131	1	0	0	0	0	1	0	0	0	14876	893	31	1	501	1	SNF8	17	47014436	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	993687	47014436	34180774	1672	21812										
IGF2BP1	10642	genome.wustl.edu	37	chr17	47103856	47103856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcctgctggctcagtatgGtacagtagagaactgtgagc	13	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:47103856G>C	ENST00000290341.3	+	4	648	c.314G>C	c.(313-315)gGt>gCt	p.G105A	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.G105A	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	105	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAGTATGGTACAGTAGAG	0.537																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													136	121	126					17																	47103856		2203	4300	6503	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.314G>C	17.37:g.47103856G>C	ENSP00000290341:p.Gly105Ala		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G105A	ENST00000290341.3	37	c.314	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544835	0.86022	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.44083	0.93;2.4	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.97110	0.967;1.0	T	0.78595	-0.2143	10	0.87932	D	0	-11.5524	16.5604	0.84551	0.0:0.0:1.0:0.0	.	105;105	C9JT33;Q9NZI8	.;IF2B1_HUMAN	A	105	ENSP00000290341:G105A;ENSP00000389135:G105A	ENSP00000290341:G105A	G	+	2	0	IGF2BP1	44458855	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	6.859000	0.75467	2.683000	0.91414	0.655000	0.94253	GGT	IGF2BP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.537	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	G	NM_006546		47103856	1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	0.993	C	C	47103856	G	C	47103856	3	2	131	1	0	0	0	0	1	0	0	0	7593	1261	44	4	328	4	IGF2BP1	17	47103856	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	89420	47103856	34091354	1673	21813										
MYCBPAP	84073	genome.wustl.edu	37	chr17	48594666	48594666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctttttagcaacacattcctCgccttactgaaaaggaagat	6	10	0	2	rs373757291		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:48594666C>T	ENST00000323776.5	+	3	508	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R79C	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACACATTCCTCGCCTTACTGA	0.453																																																	0								C	CYS/ARG	0,4406		0,0,2203	109	108	108		346	4.5	0.6	17		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCBPAP	NM_032133.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/985	48594666	1,13005	2203	4300	6503	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.346C>T	17.37:g.48594666C>T	ENSP00000323184:p.Arg116Cys			Missense_Mutation	SNP	NULL	p.R116C	ENST00000323776.5	37	c.346	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437541	0.43224	0.0	1.16E-4	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.26067	1.76;1.78	5.45	4.48	0.54585	.	0.417829	0.25514	N	0.030155	T	0.46619	0.1402	M	0.69823	2.125	0.39922	D	0.974161	D;D	0.89917	1.0;1.0	D;P	0.63597	0.916;0.897	T	0.52771	-0.8531	10	0.87932	D	0	-4.8644	12.2678	0.54689	0.0:0.92:0.0:0.08	.	79;116	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	C	116;116;79	ENSP00000323184:R116C;ENSP00000397209:R79C	ENSP00000323184:R116C	R	+	1	0	MYCBPAP	45949665	0.532000	0.26346	0.623000	0.29173	0.131000	0.20780	2.028000	0.41088	1.437000	0.47472	0.563000	0.77884	CGC	MYCBPAP	-	NULL		0.453	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	C	NM_032133		48594666	1	no_errors	ENST00000323776	ensembl	human	known	70_37	missense	SNP	0.902	T	T	48594666	C	T	48594666	3	4	131	1	0	0	0	0	1	0	0	0	10042	884	31	1	356	1	MYCBPAP	17	48594666	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1490810	48594666	32600544	1674	21814										
SPAG9	9043	genome.wustl.edu	37	chr17	49054558	49054558	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taagagctgtaattctcacaAaagagaagcccagttttcca	7	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:49054558A>C	ENST00000262013.7	-	27	3642	c.3434T>G	c.(3433-3435)tTt>tGt	p.F1145C	SPAG9_ENST00000505279.1_Missense_Mutation_p.F1135C|SPAG9_ENST00000357122.4_Missense_Mutation_p.F1131C|SPAG9_ENST00000510283.1_Missense_Mutation_p.F988C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1145					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AATTCTCACAAAAGAGAAGCC	0.393																																																	0													119	109	112					17																	49054558		2203	4300	6503	SO:0001583	missense	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3434T>G	17.37:g.49054558A>C	ENSP00000262013:p.Phe1145Cys		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.F1145C	ENST00000262013.7	37	c.3434	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871418	0.91587	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.59	5.59	0.84812	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.47716	1.5	0.80722	D	1	P;P;D;D	0.64830	0.938;0.898;0.988;0.994	P;P;D;D	0.68765	0.8;0.727;0.96;0.949	T	0.22765	-1.0207	10	0.22109	T	0.4	-15.4329	15.7625	0.78096	1.0:0.0:0.0:0.0	.	1135;1145;1131;988	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	C	1145;902;892;988;1135;1131;743	ENSP00000262013:F1145C;ENSP00000423165:F988C;ENSP00000426900:F1135C;ENSP00000349636:F1131C	ENSP00000262013:F1145C	F	-	2	0	SPAG9	46409557	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.899000	0.92544	2.120000	0.65058	0.377000	0.23210	TTT	SPAG9	-	superfamily_WD40_repeat_dom		0.393	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	A	NM_003971		49054558	-1	no_errors	ENST00000262013	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49054558	A	C	49054558	3	2	131	1	0	0	0	0	1	0	0	0	15015	14	1	5	547	5	SPAG9	17	49054558	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	459892	49054558	32140652	1675	21815										
STXBP4	252983	genome.wustl.edu	37	chr17	53120633	53120633	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcagaagcagatgaaatgGaaaggctcaagtgtgaaaga	12	5	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:53120633G>T	ENST00000376352.2	+	11	1099	c.892G>T	c.(892-894)Gaa>Taa	p.E298*	STXBP4_ENST00000405898.1_Nonsense_Mutation_p.E298*|STXBP4_ENST00000398391.2_Nonsense_Mutation_p.E223*|STXBP4_ENST00000434978.2_Nonsense_Mutation_p.E298*|STXBP4_ENST00000299341.4_Nonsense_Mutation_p.E223*	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	298					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGATGAAATGGAAAGGCTCAA	0.313																																																	0													73	69	70					17																	53120633		2203	4294	6497	SO:0001587	stop_gained	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.892G>T	17.37:g.53120633G>T	ENSP00000365530:p.Glu298*		Q8IVZ5	Nonsense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E298*	ENST00000376352.2	37	c.892	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675224	0.88445	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	.	.	.	5.68	5.68	0.88126	.	0.145125	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.9332	15.299	0.73931	0.0:0.0:1.0:0.0	.	.	.	.	X	298;223;298;298;223	.	ENSP00000299341:E223X	E	+	1	0	STXBP4	50475632	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	3.904000	0.56325	2.683000	0.91414	0.561000	0.74099	GAA	STXBP4	-	NULL		0.313	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53120633	1	no_errors	ENST00000376352	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	53120633	G	T	53120633	4	4	131	1	0	0	0	0	0	1	0	0	15385	1175	41	3	926	3	STXBP4	17	53120633	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4066075	53120633	28074577	1676	21816										
HLF	3131	genome.wustl.edu	37	chr17	53392589	53392589	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aactcctgtgttgttccaggTcagctgttgccagcaaaccg	10	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:53392589T>G	ENST00000226067.5	+	3	926	c.453T>G	c.(451-453)ggT>ggG	p.G151G	HLF_ENST00000575345.1_Splice_Site_p.G66G|HLF_ENST00000573945.1_Splice_Site_p.G66G|HLF_ENST00000430986.2_Splice_Site_p.G66G	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	151					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						TTGTTCCAGGTCAGCTGTTGC	0.498			T	TCF3	ALL																																			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	0													79	73	75					17																	53392589		2203	4300	6503	SO:0001630	splice_region_variant	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.452-1T>G	17.37:g.53392589T>G			A8K1X8|Q6FHS9	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.G151	ENST00000226067.5	37	c.453	CCDS11585.1	17																																																																																			HLF	-	NULL		0.498	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLF	HGNC	protein_coding	OTTHUMT00000439185.1	T	NM_002126	Silent	53392589	1	no_errors	ENST00000226067	ensembl	human	known	70_37	silent	SNP	0.990	G	G	53392589	T	G	53392589	5	3	131	1	0	0	0	0	0	0	1	0	7234	1681	58	5	463	5	HLF	17	53392589	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	271956	53392589	27802621	1677	21817										
CLTC	1213	genome.wustl.edu	37	chr17	57759153	57759153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgattcttatatcaaagcagAtgatccttcctcctacatgg	6	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:57759153A>G	ENST00000269122.3	+	21	3669	c.3395A>G	c.(3394-3396)gAt>gGt	p.D1132G	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.D1132G	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1132	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATCAAAGCAGATGATCCTTCC	0.413			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													109	100	103					17																	57759153		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3395A>G	17.37:g.57759153A>G	ENSP00000269122:p.Asp1132Gly		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D1132G	ENST00000269122.3	37	c.3395	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326350	0.41197	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.18657	2.2;2.2	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	L	0.46670	1.46	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.04255	-1.0965	10	0.19590	T	0.45	.	15.9147	0.79503	1.0:0.0:0.0:0.0	.	1132;1132	Q00610;Q00610-2	CLH1_HUMAN;.	G	1132	ENSP00000269122:D1132G;ENSP00000376763:D1132G	ENSP00000269122:D1132G	D	+	2	0	CLTC	55113935	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.227000	0.72691	0.460000	0.39030	GAT	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	A	NM_004859		57759153	1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57759153	A	G	57759153	3	3	131	1	0	0	0	0	1	0	0	0	3571	333	12	5	3477	5	CLTC	17	57759153	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	4366564	57759153	23436057	1678	21818										
CA4	762	genome.wustl.edu	37	chr17	58234005	58234005	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaggcaaaggtggacaaaaAactgggacgcttcttcttct	10	9	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:58234005A>C	ENST00000300900.4	+	3	296	c.197A>C	c.(196-198)aAa>aCa	p.K66T		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	66					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GTGGACAAAAAACTGGGACGC	0.562																																																	0													111	98	102					17																	58234005		2203	4300	6503	SO:0001583	missense	762			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.197A>C	17.37:g.58234005A>C	ENSP00000300900:p.Lys66Thr		B4DQA4|Q6FHI7	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K66T	ENST00000300900.4	37	c.197	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	A	8.779	0.927777	0.18056	.	.	ENSG00000167434	ENST00000300900	T	0.68025	-0.3	5.27	-10.3	0.00346	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.505870	0.03011	N	0.149409	T	0.48750	0.1517	L	0.28504	0.86	0.09310	N	1	B	0.21225	0.053	B	0.20577	0.03	T	0.21690	-1.0238	10	0.18276	T	0.48	.	11.669	0.51391	0.1407:0.3256:0.5337:0.0	.	66	P22748	CAH4_HUMAN	T	66	ENSP00000300900:K66T	ENSP00000300900:K66T	K	+	2	0	CA4	55588787	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.908000	0.01587	-1.855000	0.01162	-1.165000	0.01757	AAA	CA4	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.562	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	A	NM_000717		58234005	1	no_errors	ENST00000300900	ensembl	human	known	70_37	missense	SNP	0.000	C	C	58234005	A	C	58234005	3	2	131	1	0	0	0	0	1	0	0	0	2523	14	1	5	207	5	CA4	17	58234005	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	474852	58234005	22961205	1679	21819										
TBX2	6909	genome.wustl.edu	37	chr17	59485586	59485586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagtgcccggccccgactgCgtttcagcccctatcagatc	10	17	2	1	rs373091690		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:59485586C>T	ENST00000240328.3	+	7	2139	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	620					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GCCCCGACTGCGTTTCAGCCC	0.706																																					GBM(3;187 253 11467 14965 23079)												0								C	CYS/ARG	0,4404		0,0,2202	29	27	28		1858	5.1	1	17		28	1,8595		0,1,4297	no	missense	TBX2	NM_005994.3	180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	620/713	59485586	1,12999	2202	4298	6500	SO:0001583	missense	6909			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1858C>T	17.37:g.59485586C>T	ENSP00000240328:p.Arg620Cys		Q16424|Q7Z647	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.R620C	ENST00000240328.3	37	c.1858	CCDS11627.2	17	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951021	0.92660	0.0	1.16E-4	ENSG00000121068	ENST00000240328	D	0.96300	-3.97	5.12	5.12	0.69794	.	0.695505	0.15310	N	0.269133	D	0.98012	0.9345	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.98490	1.0609	10	0.87932	D	0	.	17.3122	0.87212	0.0:1.0:0.0:0.0	.	620	Q13207	TBX2_HUMAN	C	620	ENSP00000240328:R620C	ENSP00000240328:R620C	R	+	1	0	TBX2	56840368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.576000	0.46033	2.679000	0.91253	0.655000	0.94253	CGT	TBX2	-	NULL		0.706	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2	C	NM_005994		59485586	1	no_errors	ENST00000240328	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	59485586	C	T	59485586	3	4	131	1	0	0	0	0	1	0	0	0	15685	768	27	2	1884	2	TBX2	17	59485586	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1251581	59485586	21709624	1680	21820										
NACA2	342538	genome.wustl.edu	37	chr17	59668212	59668212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagcagggctcttgtagacGtccagttttgtgatgacaaa	12	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:59668212G>A	ENST00000521764.1	-	1	351	c.330C>T	c.(328-330)gaC>gaT	p.D110D		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	110	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTGTAGACGTCCAGTTTTG	0.443																																																	0													183	181	181					17																	59668212		2203	4300	6503	SO:0001819	synonymous_variant	342538			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.330C>T	17.37:g.59668212G>A			Q2VIR9	Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx	p.D110	ENST00000521764.1	37	c.330	CCDS11630.1	17																																																																																			NACA2	-	pfam_Nas_poly-pep-assoc_cplx,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2	G	NM_199290		59668212	-1	no_errors	ENST00000521764	ensembl	human	known	70_37	silent	SNP	1.000	A	A	59668212	G	A	59668212	2	1	131	1	0	0	0	0	0	0	0	1	10157	1136	40	2		2	NACA2	17	59668212	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	182626	59668212	21526998	1681	21821										
BRIP1	83990	genome.wustl.edu	37	chr17	59934417	59934417	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acccaggcaaaatataaattAccttgacaagttgatgaagt	7	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:59934417A>C	ENST00000259008.2	-	4	647		c.e4+1		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATATAAATTACCTTGACAAG	0.328			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													211	194	200					17																	59934417		2203	4300	6503	SO:0001630	splice_region_variant	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.379+1T>G	17.37:g.59934417A>C			Q3MJE2|Q8NCI5	Splice_Site	SNP	-	e3+2	ENST00000259008.2	37	c.379+2	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661163	0.29515	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8102	0.52179	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRIP1	57289199	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	4.652000	0.61454	2.101000	0.63845	0.528000	0.53228	.	BRIP1	-	-		0.328	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	A	NM_032043	Intron	59934417	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	59934417	A	C	59934417	5	2	131	1	0	0	0	0	0	0	1	0	1517	405	14	5	3436	5	BRIP1	17	59934417	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	266205	59934417	21260793	1682	21822										
CCDC47	57003	genome.wustl.edu	37	chr17	61843464	61843464	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtcctcctcatcctcaaaAtcatcaaacttggcttcaga	4	13	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:61843464A>C	ENST00000225726.5	-	2	454	c.72T>G	c.(70-72)gaT>gaG	p.D24E	CCDC47_ENST00000403162.3_Missense_Mutation_p.D24E|CCDC47_ENST00000582252.1_Missense_Mutation_p.D24E	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	24					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CATCCTCAAAATCATCAAACT	0.408																																																	0													147	131	137					17																	61843464		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.72T>G	17.37:g.61843464A>C	ENSP00000225726:p.Asp24Glu		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.D24E	ENST00000225726.5	37	c.72	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715702	0.30413	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	4.89	2.67	0.31697	.	0.201993	0.51477	D	0.000084	T	0.24431	0.0592	N	0.14661	0.345	0.40376	D	0.979397	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.06752	-1.0809	9	0.09590	T	0.72	-15.1076	0.9534	0.01381	0.5166:0.1476:0.1743:0.1615	.	24;24	Q96A33-2;Q96A33	.;CCD47_HUMAN	E	24	.	ENSP00000225726:D24E	D	-	3	2	CCDC47	59197196	0.951000	0.32395	0.995000	0.50966	0.766000	0.43426	0.077000	0.14738	0.448000	0.26722	0.455000	0.32223	GAT	CCDC47	-	NULL		0.408	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	A	NM_020198		61843464	-1	no_errors	ENST00000225726	ensembl	human	known	70_37	missense	SNP	0.998	C	C	61843464	A	C	61843464	3	2	131	1	0	0	0	0	1	0	0	0	2823	98	4	5	1427	5	CCDC47	17	61843464	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1909047	61843464	19351746	1683	21823										
CSH1	1442	genome.wustl.edu	37	chr17	61972703	61972703	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcctggaggattcaccaggcGaaatgaagaataaggtgagt	14	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:61972703G>A	ENST00000316193.8	-	5	598				CSH1_ENST00000329882.8_Missense_Mutation_p.R196C|CSH1_ENST00000453363.3_Intron	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TTCACCAGGCGAAATGAAGAA	0.537									Russell-Silver syndrome																																								0													80	86	84					17																	61972703		2191	4300	6491	SO:0001627	intron_variant	1442	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"chorionic somatomammotropin A", "placental lactogen", "choriomammotropin"	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.457-124C>T	17.37:g.61972703G>A			P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R196C	ENST00000316193.8	37	c.586	CCDS11649.1	17	.	.	.	.	.	.	.	.	.	.	g	8.597	0.885909	0.17540	.	.	ENSG00000136488	ENST00000329882	D	0.89123	-2.47	2.56	-1.3	0.09259	.	5.718800	0.01041	N	0.004319	T	0.81103	0.4753	.	.	.	0.09310	N	1	B	0.20887	0.049	B	0.08055	0.003	T	0.66212	-0.5980	9	0.87932	D	0	.	2.0066	0.03478	0.3558:0.0:0.3839:0.2603	.	196	A6NFB4	.	C	196	ENSP00000333268:R196C	ENSP00000333268:R196C	R	-	1	0	CSH1	59326435	0.003000	0.15002	0.001000	0.08648	0.020000	0.10135	0.249000	0.18216	-0.015000	0.14150	0.313000	0.20887	CGC	CSH1	-	NULL		0.537	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH1	HGNC	protein_coding	OTTHUMT00000416040.1	G	NM_001317		61972703	-1	no_errors	ENST00000329882	ensembl	human	putative	70_37	missense	SNP	0.003	A	A	61972703	G	A	61972703	1	1	131	0	1	0	0	0	0	0	0	0	3945	1058	37	1		1	CSH1	17	61972703	Intron	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	129239	61972703	19222507	1684	21824										
SCN4A	6329	genome.wustl.edu	37	chr17	62029154	62029154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agccgatgcccaacttgatgCgcccgatggcaatctgcagg	12	13	1	1	rs556099012		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62029154C>T	ENST00000435607.1	-	14	2559	c.2483G>A	c.(2482-2484)cGc>cAc	p.R828H	SCN4A_ENST00000578147.1_Missense_Mutation_p.R828H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	828					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAACTTGATGCGCCCGATGGC	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		18466	0		0	False		,,,				2504	0																0													15	16	16					17																	62029154		2035	4175	6210	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2483G>A	17.37:g.62029154C>T	ENSP00000396320:p.Arg828His		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.R828H	ENST00000435607.1	37	c.2483	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965229	0.92855	.	.	ENSG00000007314	ENST00000435607	D	0.98105	-4.72	4.54	4.54	0.55810	Sodium ion transport-associated (1);	0.052065	0.64402	D	0.000001	D	0.98865	0.9616	M	0.92507	3.315	0.58432	D	0.999998	D	0.65815	0.995	D	0.64877	0.93	D	0.99560	1.0968	10	0.87932	D	0	.	16.0346	0.80617	0.0:1.0:0.0:0.0	.	828	P35499	SCN4A_HUMAN	H	828	ENSP00000396320:R828H	ENSP00000396320:R828H	R	-	2	0	SCN4A	59382886	0.999000	0.42202	0.999000	0.59377	0.964000	0.63967	7.609000	0.82925	2.379000	0.81126	0.455000	0.32223	CGC	SCN4A	-	pfam_Na_trans_assoc		0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62029154	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62029154	C	T	62029154	3	4	131	1	0	0	0	0	1	0	0	0	13950	768	27	2	3071	2	SCN4A	17	62029154	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	56451	62029154	19166056	1685	21825										
TEX2	55852	genome.wustl.edu	37	chr17	62290817	62290817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaatctccacctgtgtttCggggctgtgtgaactgcttg	13	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62290817C>T	ENST00000583097.1	-	2	933	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	TEX2_ENST00000584379.1_Missense_Mutation_p.R254Q|TEX2_ENST00000258991.3_Missense_Mutation_p.R254Q			Q8IWB9	TEX2_HUMAN	testis expressed 2	254					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ACCTGTGTTTCGGGGCTGTGT	0.488																																																	0													133	138	137					17																	62290817		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.761G>A	17.37:g.62290817C>T	ENSP00000462665:p.Arg254Gln		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.R254Q	ENST00000583097.1	37	c.761		17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474314	0.43942	.	.	ENSG00000136478	ENST00000258991	T	0.59364	0.27	6.03	6.03	0.97812	.	0.063493	0.64402	D	0.000005	T	0.74473	0.3721	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.923	T	0.74156	-0.3756	10	0.72032	D	0.01	-9.4977	20.5568	0.99304	0.0:1.0:0.0:0.0	.	254;254	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	Q	254	ENSP00000258991:R254Q	ENSP00000258991:R254Q	R	-	2	0	TEX2	59644549	1.000000	0.71417	0.907000	0.35723	0.716000	0.41182	7.431000	0.80335	2.861000	0.98227	0.655000	0.94253	CGA	TEX2	-	NULL		0.488	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	C	NM_018469		62290817	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62290817	C	T	62290817	3	4	131	1	0	0	0	0	1	0	0	0	15811	884	31	1	2687	1	TEX2	17	62290817	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	261663	62290817	18904393	1686	21826										
POLG2	11232	genome.wustl.edu	37	chr17	62488865	62488865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaggagtaaaccatactaaCgaagcttcagtcttctcacc	8	11	3	0	rs200846949		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62488865C>T	ENST00000539111.2	-	3	781	c.714G>A	c.(712-714)tcG>tcA	p.S238S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	238					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ACCATACTAACGAAGCTTCAG	0.378													C|||	1	0.000199681	0	0.0014	5008	,	,		17867	0		0	False		,,,				2504	0				Colon(3;18 21 435 17652 48887)												0													50	44	46					17																	62488865		2203	4300	6503	SO:0001819	synonymous_variant	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.714G>A	17.37:g.62488865C>T			O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.S238	ENST00000539111.2	37	c.714	CCDS32706.1	17																																																																																			POLG2	-	NULL		0.378	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	C	NM_007215		62488865	-1	no_errors	ENST00000539111	ensembl	human	known	70_37	silent	SNP	0.001	T	T	62488865	C	T	62488865	2	4	131	1	0	0	0	0	0	0	0	1	12225	523	19	2		2	POLG2	17	62488865	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	198048	62488865	18706345	1687	21827										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892841	62892841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaatattcattctgcaaagTctgtttctgactctgaggtg	10	7	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62892841T>C	ENST00000584306.1	-	3	1065	c.535A>G	c.(535-537)Act>Gct	p.T179A	LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.T179A|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCTGCAAAGTCTGTTTCTGA	0.493																																																	0													84	142	124					17																	62892841		1601	3634	5235	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.535A>G	17.37:g.62892841T>C	ENSP00000464535:p.Thr179Ala		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T179A	ENST00000584306.1	37	c.535	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	4.550	0.102171	0.08731	.	.	ENSG00000176809	ENST00000319651	T	0.59502	0.26	1.24	-0.0326	0.13904	.	.	.	.	.	T	0.39253	0.1071	L	0.34521	1.04	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.20840	-1.0263	9	0.29301	T	0.29	.	3.9619	0.09415	0.0:0.0:0.3856:0.6144	.	179	O60309	L37A3_HUMAN	A	179	ENSP00000325713:T179A	ENSP00000325713:T179A	T	-	1	0	LRRC37A3	60323303	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.172000	0.16704	-0.030000	0.13804	0.136000	0.15936	ACT	LRRC37A3	-	NULL		0.493	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	T	NM_199340		62892841	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	C	C	62892841	T	C	62892841	3	2	131	1	0	0	0	0	1	0	0	0	9016	1667	58	5	4417	5	LRRC37A3	17	62892841	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	403976	62892841	18302369	1688	21828										
BPTF	2186	genome.wustl.edu	37	chr17	65907913	65907913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcaggatagcagtgaagaaGatatgattgttcagaatagc	11	4	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:65907913G>T	ENST00000321892.4	+	13	4352	c.4291G>T	c.(4291-4293)Gat>Tat	p.D1431Y	BPTF_ENST00000335221.5_Missense_Mutation_p.D1431Y|BPTF_ENST00000306378.6_Missense_Mutation_p.D1305Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1292Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1431					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTGAAGAAGATATGATTGT	0.388																																																	0													102	100	101					17																	65907913		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4291G>T	17.37:g.65907913G>T	ENSP00000315454:p.Asp1431Tyr		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D1431Y	ENST00000321892.4	37	c.4291		17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486385	0.26686	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65178	-0.14;-0.14;-0.14	5.48	4.5	0.54988	.	.	.	.	.	T	0.65719	0.2718	L	0.29908	0.895	0.46167	D	0.998905	D;D	0.71674	0.998;0.986	D;P	0.67382	0.951;0.8	T	0.67654	-0.5615	9	0.87932	D	0	-8.4005	10.3723	0.44062	0.2028:0.0:0.7972:0.0	.	1305;1431	Q12830-2;Q12830-4	.;.	Y	1305;1431;1431	ENSP00000307208:D1305Y;ENSP00000334351:D1431Y;ENSP00000315454:D1431Y	ENSP00000307208:D1305Y	D	+	1	0	BPTF	63338375	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.423000	0.34837	2.565000	0.86533	0.650000	0.86243	GAT	BPTF	-	NULL		0.388	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65907913	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65907913	G	T	65907913	3	4	131	1	0	0	0	0	1	0	0	0	1498	942	33	3	4341	3	BPTF	17	65907913	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3015072	65907913	15287297	1689	21829										
ABCA6	23460	genome.wustl.edu	37	chr17	67101716	67101716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttttcatttaacatagcaTacattatattttcaacaatc	1	8	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:67101716T>G	ENST00000284425.2	-	20	2801	c.2627A>C	c.(2626-2628)tAt>tCt	p.Y876S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	876				MY -> IH (in Ref. 4; BAC04994). {ECO:0000305}.	transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAACATAGCATACATTATATT	0.323																																																	0													50	45	47					17																	67101716		2202	4300	6502	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2627A>C	17.37:g.67101716T>G	ENSP00000284425:p.Tyr876Ser		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y876S	ENST00000284425.2	37	c.2627	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	8.035	0.762558	0.15914	.	.	ENSG00000154262	ENST00000284425	D	0.85702	-2.02	4.97	-4.15	0.03881	.	2.838520	0.01097	N	0.005282	T	0.81118	0.4756	L	0.60455	1.87	0.09310	N	1	B	0.18741	0.03	B	0.19666	0.026	T	0.61327	-0.7085	10	0.20046	T	0.44	.	9.2055	0.37287	0.699:0.0:0.1109:0.1901	.	876	Q8N139	ABCA6_HUMAN	S	876	ENSP00000284425:Y876S	ENSP00000284425:Y876S	Y	-	2	0	ABCA6	64613311	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.645000	0.05409	-0.504000	0.06577	-0.468000	0.05107	TAT	ABCA6	-	NULL		0.323	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	T	NM_080284		67101716	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.000	G	G	67101716	T	G	67101716	3	3	131	1	0	0	0	0	1	0	0	0	36	1406	49	5	2306	5	ABCA6	17	67101716	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1193803	67101716	14093494	1690	21830										
ABCA10	10349	genome.wustl.edu	37	chr17	67187321	67187321	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttacacagtaagttacctggAaatttgttcgttttttccaa	6	7	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:67187321A>T	ENST00000269081.4	-	18	2916	c.2007T>A	c.(2005-2007)ttT>ttA	p.F669L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	669					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTTACCTGGAAATTTGTTCG	0.343																																																	0													104	92	96					17																	67187321		2201	4299	6500	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2007T>A	17.37:g.67187321A>T	ENSP00000269081:p.Phe669Leu		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F669L	ENST00000269081.4	37	c.2007	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926535	0.73327	.	.	ENSG00000154263	ENST00000269081	D	0.89939	-2.59	2.99	2.99	0.34606	.	0.000000	0.34906	U	0.003581	D	0.92325	0.7565	M	0.73598	2.24	0.80722	D	1	D;P	0.61080	0.989;0.73	D;P	0.74348	0.983;0.865	D	0.91620	0.5310	10	0.87932	D	0	.	7.1538	0.25626	0.8729:0.0:0.1271:0.0	.	669;669	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	L	669	ENSP00000269081:F669L	ENSP00000269081:F669L	F	-	3	2	ABCA10	64698916	0.939000	0.31865	0.864000	0.33941	0.113000	0.19764	2.015000	0.40961	1.361000	0.45981	0.460000	0.39030	TTT	ABCA10	-	NULL		0.343	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	A	NM_080282		67187321	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67187321	A	T	67187321	3	4	131	1	0	0	0	0	1	0	0	0	29	243	9	5	2716	5	ABCA10	17	67187321	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	85605	67187321	14007889	1691	21831										
ABCA5	23461	genome.wustl.edu	37	chr17	67310553	67310553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacctccctaattgcagtggAcatgttttctgaataaacct	6	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:67310553A>G	ENST00000392676.3	-	2	68	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P	ABCA5_ENST00000589609.1_5'Flank|ABCA5_ENST00000588877.1_Missense_Mutation_p.S2P|ABCA5_ENST00000392677.2_Missense_Mutation_p.S2P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	2					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTGCAGTGGACATGTTTTCT	0.378																																																	0													102	104	103					17																	67310553		2203	4300	6503	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4T>C	17.37:g.67310553A>G	ENSP00000376443:p.Ser2Pro		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2P	ENST00000392676.3	37	c.4	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799944	0.50208	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.46451	0.87;0.87	5.76	4.79	0.61399	.	0.227351	0.30949	N	0.008545	T	0.22627	0.0546	N	0.04508	-0.205	0.22968	N	0.998499	B;B	0.21606	0.039;0.058	B;B	0.24974	0.046;0.057	T	0.14364	-1.0475	9	.	.	.	.	14.1108	0.65120	0.2837:0.7163:0.0:0.0	.	2;2	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	P	2	ENSP00000376444:S2P;ENSP00000376443:S2P	.	S	-	1	0	ABCA5	64822148	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.357000	0.34090	1.411000	0.46957	-0.452000	0.05504	TCC	ABCA5	-	NULL		0.378	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	A	NM_018672		67310553	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67310553	A	G	67310553	3	3	131	1	0	0	0	0	1	0	0	0	35	275	10	5	5076	5	ABCA5	17	67310553	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	123232	67310553	13884657	1692	21832										
KCNJ16	3773	genome.wustl.edu	37	chr17	68128346	68128346	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagacgattacttcacaaaGatggcagctgtaatgtctac	9	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:68128346G>T	ENST00000589377.1	+	2	281	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	KCNJ16_ENST00000585558.1_Missense_Mutation_p.D75Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.D40Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.D40Y|KCNJ16_ENST00000283936.1_Missense_Mutation_p.D40Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.D79Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	40					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTTCACAAAGATGGCAGCTG	0.453																																																	0													213	194	200					17																	68128346		2203	4300	6503	SO:0001583	missense	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.118G>T	17.37:g.68128346G>T	ENSP00000465967:p.Asp40Tyr			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.D40Y	ENST00000589377.1	37	c.118	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790813	0.70452	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94723	-3.5;-3.5;-3.5	5.99	5.99	0.97316	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.051094	0.85682	D	0.000000	D	0.97383	0.9144	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.96785	0.9578	9	.	.	.	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	40;40	A8K434;Q9NPI9	.;IRK16_HUMAN	Y	40	ENSP00000283936:D40Y;ENSP00000376439:D40Y;ENSP00000376438:D40Y	.	D	+	1	0	KCNJ16	65639941	1.000000	0.71417	0.940000	0.37924	0.401000	0.30781	7.964000	0.87933	2.831000	0.97527	0.650000	0.86243	GAT	KCNJ16	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	G	NM_018658		68128346	1	no_errors	ENST00000283936	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68128346	G	T	68128346	3	4	131	1	0	0	0	0	1	0	0	0	8070	942	33	3	120	3	KCNJ16	17	68128346	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	817793	68128346	13066864	1693	21833										
KCNJ2	3759	genome.wustl.edu	37	chr17	68172113	68172113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actgccatgacgacacagtgCcgtagctcttatctagcaaa	8	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:68172113C>T	ENST00000243457.3	+	2	1316	c.933C>T	c.(931-933)tgC>tgT	p.C311C	KCNJ2_ENST00000535240.1_Silent_p.C311C	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	311					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CGACACAGTGCCGTAGCTCTT	0.468																																																	0													61	63	63					17																	68172113		2203	4300	6503	SO:0001819	synonymous_variant	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.933C>T	17.37:g.68172113C>T			O15110|P48049	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.C311	ENST00000243457.3	37	c.933	CCDS11688.1	17																																																																																			KCNJ2	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	C	NM_000891		68172113	1	no_errors	ENST00000243457	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68172113	C	T	68172113	2	4	131	1	0	0	0	0	0	0	0	1	8071	747	26	4		4	KCNJ2	17	68172113	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	43767	68172113	13023097	1694	21834										
COG1	9382	genome.wustl.edu	37	chr17	71192823	71192823	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctggattcttctagttccCgatacagtcccgtcctctcc	7	15	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:71192823C>T	ENST00000299886.4	+	2	573	c.493C>T	c.(493-495)Cga>Tga	p.R165*	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	165					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTCTAGTTCCCGATACAGTCC	0.597																																																	0													105	99	101					17																	71192823		2203	4300	6503	SO:0001587	stop_gained	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.493C>T	17.37:g.71192823C>T	ENSP00000299886:p.Arg165*		Q9NPV9|Q9P2G6	Nonsense_Mutation	SNP	pfam_Vps51	p.R165*	ENST00000299886.4	37	c.493	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718717	0.48622	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	.	.	.	4.89	-2.97	0.05530	.	0.499227	0.21650	N	0.071186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	0.0197	2.0607	0.03592	0.1187:0.4387:0.2071:0.2355	.	.	.	.	X	165	.	ENSP00000299886:R165X	R	+	1	2	COG1	68704418	0.000000	0.05858	0.000000	0.03702	0.777000	0.43975	0.181000	0.16880	-0.346000	0.08312	0.650000	0.86243	CGA	COG1	-	NULL		0.597	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	C			71192823	1	no_errors	ENST00000299886	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	71192823	C	T	71192823	4	4	131	1	0	0	0	0	0	1	0	0	3662	644	23	2	499	2	COG1	17	71192823	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3020710	71192823	10002387	1695	21835										
DNAI2	64446	genome.wustl.edu	37	chr17	72283153	72283153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagcagaacaatgccattgAcatctatgaagagtatttca	7	8	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72283153A>C	ENST00000311014.6	+	4	450	c.383A>C	c.(382-384)gAc>gCc	p.D128A	DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Missense_Mutation_p.D128A|DNAI2_ENST00000579490.1_Missense_Mutation_p.D185A|DNAI2_ENST00000446837.2_Missense_Mutation_p.D128A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	128					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AATGCCATTGACATCTATGAA	0.493									Kartagener syndrome																																								0													154	121	132					17																	72283153		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.383A>C	17.37:g.72283153A>C	ENSP00000308312:p.Asp128Ala		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D128A	ENST00000311014.6	37	c.383	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607697	0.66558	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.17370	2.28;2.28	5.04	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);	0.286415	0.43747	D	0.000528	T	0.41166	0.1147	M	0.90650	3.135	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	T	0.52071	-0.8624	10	0.72032	D	0.01	-69.3188	11.9285	0.52833	0.8553:0.1447:0.0:0.0	.	128	Q9GZS0	DNAI2_HUMAN	A	128	ENSP00000308312:D128A;ENSP00000400252:D128A	ENSP00000308312:D128A	D	+	2	0	DNAI2	69794748	1.000000	0.71417	0.997000	0.53966	0.610000	0.37248	6.349000	0.73013	2.127000	0.65507	0.477000	0.44152	GAC	DNAI2	-	NULL		0.493	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	A	NM_023036		72283153	1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.999	C	C	72283153	A	C	72283153	3	2	131	1	0	0	0	0	1	0	0	0	4620	275	10	5	393	5	DNAI2	17	72283153	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1090330	72283153	8912057	1696	21836										
DNAI2	64446	genome.wustl.edu	37	chr17	72301440	72301440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgtcagctgaaaagattgTgtgcaccttcccgggccatc	11	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72301440T>G	ENST00000311014.6	+	9	1137	c.1070T>G	c.(1069-1071)gTg>gGg	p.V357G	DNAI2_ENST00000307504.5_Missense_Mutation_p.V214G|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.V357G|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000579490.1_Missense_Mutation_p.V414G|DNAI2_ENST00000446837.2_Missense_Mutation_p.V357G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	357					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAAAAGATTGTGTGCACCTTC	0.587									Kartagener syndrome																																								0													105	86	92					17																	72301440		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1070T>G	17.37:g.72301440T>G	ENSP00000308312:p.Val357Gly		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V357G	ENST00000311014.6	37	c.1070	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001445	0.54254	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.14144	2.53;2.53;2.53	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114503	0.64402	D	0.000019	T	0.16342	0.0393	L	0.56769	1.78	0.80722	D	1	B	0.25719	0.132	B	0.34138	0.176	T	0.05533	-1.0879	10	0.22109	T	0.4	-44.4604	9.5875	0.39526	0.0:0.0898:0.0:0.9102	.	357	Q9GZS0	DNAI2_HUMAN	G	357;214;357	ENSP00000308312:V357G;ENSP00000302929:V214G;ENSP00000400252:V357G	ENSP00000302929:V214G	V	+	2	0	DNAI2	69813035	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.935000	0.70145	1.877000	0.54381	0.454000	0.30748	GTG	DNAI2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	T	NM_023036		72301440	1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72301440	T	G	72301440	3	3	131	1	0	0	0	0	1	0	0	0	4620	1696	59	5	1100	5	DNAI2	17	72301440	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	18287	72301440	8893770	1697	21837										
CD300A	11314	genome.wustl.edu	37	chr17	72469814	72469814	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagattttcctatgtgacaaGattgtggagaccaaagggtc	11	7	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72469814G>T	ENST00000360141.3	+	2	468	c.180G>T	c.(178-180)aaG>aaT	p.K60N	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	60	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TATGTGACAAGATTGTGGAGA	0.527																																																	0													132	113	120					17																	72469814		2203	4300	6503	SO:0001583	missense	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.180G>T	17.37:g.72469814G>T	ENSP00000353259:p.Lys60Asn		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.K60N	ENST00000360141.3	37	c.180	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397537	0.25205	.	.	ENSG00000167851	ENST00000360141	T	0.04119	3.7	4.06	-6.59	0.01830	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.329134	0.21032	N	0.081337	T	0.02193	0.0068	N	0.25647	0.755	0.09310	N	0.999996	B	0.29571	0.249	B	0.30646	0.118	T	0.41466	-0.9507	10	0.20046	T	0.44	.	2.7032	0.05155	0.0927:0.2422:0.1951:0.47	.	60	Q9UGN4	CLM8_HUMAN	N	60	ENSP00000353259:K60N	ENSP00000353259:K60N	K	+	3	2	CD300A	69981409	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.069000	0.03444	-0.770000	0.04614	0.305000	0.20034	AAG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.527	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	G	NM_007261		72469814	1	no_errors	ENST00000360141	ensembl	human	known	70_37	missense	SNP	0.000	T	T	72469814	G	T	72469814	3	4	131	1	0	0	0	0	1	0	0	0	3001	933	33	3	186	3	CD300A	17	72469814	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	168374	72469814	8725396	1698	21838										
FADS6	283985	genome.wustl.edu	37	chr17	72889601	72889601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accacgtcctgcaccagcacCtccagctcccgcagcagcgc	8	21	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72889601C>A	ENST00000310226.6	-	1	107	c.93G>T	c.(91-93)gaG>gaT	p.E31D		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	37					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCACCAGCACCTCCAGCTCCC	0.706																																																	0													11	16	14					17																	72889601		2169	4271	6440	SO:0001583	missense	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.93G>T	17.37:g.72889601C>A	ENSP00000307821:p.Glu31Asp		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1	p.E31D	ENST00000310226.6	37	c.93	CCDS54163.1	17	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047327	0.19827	.	.	ENSG00000172782	ENST00000310226	.	.	.	4.04	4.04	0.47022	.	0.241813	0.36066	U	0.002819	T	0.29620	0.0739	M	0.62723	1.935	0.23396	N	0.997766	P	0.34662	0.462	B	0.28553	0.091	T	0.29971	-0.9994	9	0.02654	T	1	-20.8299	7.9777	0.30164	0.0:0.8832:0.0:0.1168	.	37	Q8N9I5	FADS6_HUMAN	D	31	.	ENSP00000307821:E31D	E	-	3	2	FADS6	70401196	0.723000	0.28027	0.902000	0.35471	0.277000	0.26821	0.593000	0.23999	1.828000	0.53243	0.449000	0.29647	GAG	FADS6	-	NULL		0.706	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	C			72889601	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	missense	SNP	0.869	A	A	72889601	C	A	72889601	3	1	131	1	0	0	0	0	1	0	0	0	5383	680	24	4	983	4	FADS6	17	72889601	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	419787	72889601	8305609	1699	21839										
ATP5H	10476	genome.wustl.edu	37	chr17	73035359	73035359	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagacacccactcagcacaaGatttcacctttaagaagaaa	6	11	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:73035359G>T	ENST00000301587.4	-	5	346	c.299C>A	c.(298-300)tCt>tAt	p.S100Y	ATP5H_ENST00000344546.4_Missense_Mutation_p.S76Y|RN7SL573P_ENST00000485340.2_RNA|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	100					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					CTCAGCACAAGATTTCACCTT	0.473																																																	0													114	105	108					17																	73035359		2203	4300	6503	SO:0001583	missense	10476			AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	845	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.299C>A	17.37:g.73035359G>T	ENSP00000301587:p.Ser100Tyr		B2R5L6|Q9H3J4	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt	p.S100Y	ENST00000301587.4	37	c.299	CCDS11712.1	17	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632394	0.29068	.	.	ENSG00000167863	ENST00000301587;ENST00000344546	.	.	.	5.72	-6.85	0.01681	.	0.744268	0.14360	N	0.324511	T	0.41696	0.1170	M	0.77103	2.36	0.09310	N	0.999994	P;P	0.51240	0.543;0.943	B;P	0.50860	0.149;0.652	T	0.29488	-1.0010	9	0.66056	D	0.02	.	2.9729	0.05928	0.1669:0.3585:0.3006:0.1741	.	76;100	O75947-2;O75947	.;ATP5H_HUMAN	Y	100;76	.	ENSP00000301587:S100Y	S	-	2	0	ATP5H	70546954	0.006000	0.16342	0.001000	0.08648	0.522000	0.34438	-0.617000	0.05584	-0.786000	0.04516	-0.305000	0.09177	TCT	ATP5H	-	pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt		0.473	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5H	HGNC	protein_coding	OTTHUMT00000445318.1	G	NM_006356		73035359	-1	no_errors	ENST00000301587	ensembl	human	known	70_37	missense	SNP	0.001	T	T	73035359	G	T	73035359	3	4	131	1	0	0	0	0	1	0	0	0	1157	942	33	3	194	3	ATP5H	17	73035359	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	145758	73035359	8159851	1700	21840										
CASKIN2	57513	genome.wustl.edu	37	chr17	73498214	73498214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgattccgtgaggttgaaatCgaggccggggggcacgggtg	19	7	0	3	rs200351544		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:73498214C>T	ENST00000321617.3	-	18	3527	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D899N	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	981	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTTGAAATCGAGGCCGGGG	0.657													C|||	1	0.000199681	0	0	5008	,	,		11238	0		0	False		,,,				2504	0.001																0													21	31	28					17																	73498214		2108	4198	6306	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2941G>A	17.37:g.73498214C>T	ENSP00000325355:p.Asp981Asn		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.D981N	ENST00000321617.3	37	c.2941	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180758	0.38511	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70399	-0.48;-0.3	5.17	3.11	0.35812	.	0.278476	0.25202	N	0.032377	T	0.55465	0.1922	L	0.40543	1.245	0.80722	D	1	B	0.32781	0.384	B	0.24974	0.057	T	0.53620	-0.8413	10	0.54805	T	0.06	.	7.1954	0.25849	0.0:0.5756:0.3365:0.0879	.	981	Q8WXE0	CSKI2_HUMAN	N	981;899	ENSP00000325355:D981N;ENSP00000406963:D899N	ENSP00000325355:D981N	D	-	1	0	CASKIN2	71009809	0.996000	0.38824	0.112000	0.21494	0.147000	0.21601	3.573000	0.53856	0.711000	0.32018	-0.282000	0.10007	GAT	CASKIN2	-	NULL		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73498214	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.752	T	T	73498214	C	T	73498214	3	4	131	1	0	0	0	0	1	0	0	0	2672	884	31	1	679	1	CASKIN2	17	73498214	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	462855	73498214	7696996	1701	21841										
GALR2	8811	genome.wustl.edu	37	chr17	74073164	74073164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcacgcgcgccacttatgcGcttcgcatcctctcgcacct	7	19	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:74073164G>A	ENST00000329003.3	+	2	906	c.816G>A	c.(814-816)gcG>gcA	p.A272A	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	272					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCACTTATGCGCTTCGCATCC	0.632																																																	0													42	38	39					17																	74073164		2203	4300	6503	SO:0001819	synonymous_variant	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.816G>A	17.37:g.74073164G>A			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.A272	ENST00000329003.3	37	c.816	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt		0.632	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	G			74073164	1	no_errors	ENST00000329003	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74073164	G	A	74073164	2	1	131	1	0	0	0	0	0	0	0	1	6247	1074	38	2		2	GALR2	17	74073164	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	574950	74073164	7122046	1702	21842										
RNF157	114804	genome.wustl.edu	37	chr17	74163187	74163187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcacagtctccgactggaggCtgttgtctttgggaatgtag	14	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:74163187C>A	ENST00000269391.6	-	5	596	c.464G>T	c.(463-465)aGc>aTc	p.S155I	RNF157_ENST00000319945.6_Missense_Mutation_p.S155I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	155							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CGACTGGAGGCTGTTGTCTTT	0.552																																					GBM(186;507 2120 27388 27773 52994)												0													115	105	108					17																	74163187		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.464G>T	17.37:g.74163187C>A	ENSP00000269391:p.Ser155Ile		Q8NB72|Q96N56	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S155I	ENST00000269391.6	37	c.464	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950365	0.53186	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.33216	1.42;1.42	5.43	4.45	0.53987	.	0.269079	0.48767	D	0.000169	T	0.34077	0.0885	L	0.50333	1.59	0.80722	D	1	B;B	0.25206	0.12;0.07	B;B	0.37650	0.255;0.09	T	0.26189	-1.0110	10	0.62326	D	0.03	-0.1465	10.4557	0.44548	0.0:0.8483:0.0:0.1517	.	155;155	Q96PX1-2;Q96PX1	.;RN157_HUMAN	I	155;155;117	ENSP00000269391:S155I;ENSP00000321837:S155I	ENSP00000269391:S155I	S	-	2	0	RNF157	71674782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.021000	0.49651	2.525000	0.85131	0.655000	0.94253	AGC	RNF157	-	NULL		0.552	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	HGNC	protein_coding	OTTHUMT00000255874.2	C	XM_290732		74163187	-1	no_errors	ENST00000269391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74163187	C	A	74163187	3	1	131	1	0	0	0	0	1	0	0	0	13484	797	28	4	1635	4	RNF157	17	74163187	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	90023	74163187	7032023	1703	21843										
MFSD11	79157	genome.wustl.edu	37	chr17	74735047	74735047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatcaggagcttaaataggAcagattttcacggcagtgga	11	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:74735047A>G	ENST00000588460.1	+	2	2166	c.124A>G	c.(124-126)Aca>Gca	p.T42A	SRSF2_ENST00000508921.3_5'Flank|SRSF2_ENST00000359995.5_5'Flank|MFSD11_ENST00000593181.1_Missense_Mutation_p.T42A|MFSD11_ENST00000355954.3_Missense_Mutation_p.T42A|MIR636_ENST00000384825.1_RNA|SRSF2_ENST00000392485.2_5'Flank|MFSD11_ENST00000590514.1_Missense_Mutation_p.T42A|MFSD11_ENST00000336509.4_Missense_Mutation_p.T42A|MFSD11_ENST00000586622.1_Missense_Mutation_p.T42A	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	42						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTTAAATAGGACAGATTTTCA	0.403																																																	0													124	111	115					17																	74735047		2203	4300	6503	SO:0001583	missense	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.124A>G	17.37:g.74735047A>G	ENSP00000464932:p.Thr42Ala		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T42A	ENST00000588460.1	37	c.124	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952531	0.73787	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.81996	-1.56;-1.56	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	L	0.43923	1.385	0.80722	D	1	P;P	0.48764	0.915;0.647	P;P	0.52031	0.596;0.688	T	0.79286	-0.1866	10	0.14656	T	0.56	-14.5481	15.6568	0.77144	1.0:0.0:0.0:0.0	.	42;42	O43934-2;O43934	.;MFS11_HUMAN	A	42	ENSP00000337240:T42A;ENSP00000348225:T42A	ENSP00000337240:T42A	T	+	1	0	MFSD11	72246642	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.331000	0.52075	2.092000	0.63282	0.459000	0.35465	ACA	MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.403	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	A	NM_024311		74735047	1	no_errors	ENST00000336509	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74735047	A	G	74735047	3	3	131	1	0	0	0	0	1	0	0	0	9552	275	10	5	130	5	MFSD11	17	74735047	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	571860	74735047	6460163	1704	21844										
C1QTNF1	114897	genome.wustl.edu	37	chr17	77040139	77040139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgagtcgtgtgccccatgTccagggggaacagcaggagt	15	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:77040139T>C	ENST00000339142.2	+	3	644	c.89T>C	c.(88-90)gTc>gCc	p.V30A	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.V40A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.V30A|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.V30A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	30					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GTGCCCCATGTCCAGGGGGAA	0.657																																																	0													58	54	55					17																	77040139		2203	4300	6503	SO:0001583	missense	114897			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.89T>C	17.37:g.77040139T>C	ENSP00000340864:p.Val30Ala		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.V40A	ENST00000339142.2	37	c.119	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	T	0	-2.603130	0.00123	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.75260	-0.92;-0.92	3.58	-4.53	0.03462	.	1.847300	0.03192	N	0.173535	T	0.50939	0.1645	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15930	0.015;0.001;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.45775	-0.9238	10	0.06494	T	0.89	.	3.6919	0.08350	0.4321:0.0:0.2122:0.3557	.	40;40;30	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	A	30;40;30;40	ENSP00000340864:V30A;ENSP00000343230:V40A	ENSP00000340864:V30A	V	+	2	0	C1QTNF1	74551734	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.991000	0.03728	-0.833000	0.04245	-0.444000	0.05651	GTC	C1QTNF1	-	NULL		0.657	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2	T	NM_030968		77040139	1	no_errors	ENST00000354124	ensembl	human	known	70_37	missense	SNP	0.000	C	C	77040139	T	C	77040139	3	2	131	1	0	0	0	0	1	0	0	0	1967	1667	58	5	91	5	C1QTNF1	17	77040139	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2305092	77040139	4155071	1705	21845										
GAA	2548	genome.wustl.edu	37	chr17	78078694	78078694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccatcacccaggaacagtgCgaggcccgcggctgttgcta	13	14	1	0	rs373307393		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:78078694C>T	ENST00000302262.3	+	2	528	c.309C>T	c.(307-309)tgC>tgT	p.C103C	GAA_ENST00000390015.3_Silent_p.C103C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	103	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.		C -> G (in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme). {ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:21109266}.|C -> R (in GSD2). {ECO:0000269|PubMed:22644586}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	AGGAACAGTGCGAGGCCCGCG	0.667													C|||	1	0.000199681	0	0	5008	,	,		15571	0		0.001	False		,,,				2504	0																0			GRCh37	CM040050	GAA	M		C	,,	0,4406		0,0,2203	31	29	29		309,309,309	-3.3	1	17		29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	103/953,103/953,103/953	78078694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.309C>T	17.37:g.78078694C>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.C103	ENST00000302262.3	37	c.309	CCDS32760.1	17																																																																																			GAA	-	pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	C			78078694	1	no_errors	ENST00000302262	ensembl	human	known	70_37	silent	SNP	0.985	T	T	78078694	C	T	78078694	2	4	131	1	0	0	0	0	0	0	0	1	6165	776	27	2		2	GAA	17	78078694	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1038555	78078694	3116516	1706	21846										
AATK	9625	genome.wustl.edu	37	chr17	79102290	79102290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcccgaaccagccacggcCgatttccttcaggtacagga	9	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:79102290C>T	ENST00000326724.4	-	4	418	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	AATK_ENST00000572339.1_5'UTR|MIR338_ENST00000390137.2_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.G29S	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGCCACGGCCGATTTCCTTC	0.647																																																	0													32	40	37					17																	79102290		1756	3545	5301	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.394G>A	17.37:g.79102290C>T	ENSP00000324196:p.Gly132Ser		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G132S	ENST00000326724.4	37	c.394	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861758	0.71949	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	D;D	0.94862	-3.54;-3.54	4.07	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	H	0.94423	3.535	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.87932	D	0	.	15.045	0.71822	0.0:1.0:0.0:0.0	.	132	Q6ZMQ8	LMTK1_HUMAN	S	132	ENSP00000324196:G132S;ENSP00000363924:G132S	ENSP00000324196:G132S	G	-	1	0	AATK	76716885	1.000000	0.71417	0.919000	0.36401	0.098000	0.18820	5.581000	0.67471	1.820000	0.53075	0.453000	0.30009	GGC	AATK	-	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,pfscan_Prot_kinase_cat_dom		0.647	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79102290	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79102290	C	T	79102290	3	4	131	1	0	0	0	0	1	0	0	0	26	652	23	2	3774	2	AATK	17	79102290	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1023596	79102290	2092920	1707	21847										
RAC3	5881	genome.wustl.edu	37	chr17	79991391	79991391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaagctggacctccgcgacGacaaggacaccattgagcgg	12	14	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:79991391G>T	ENST00000306897.4	+	5	502	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	122					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTCCGCGACGACAAGGACAC	0.672																																																	0													55	52	53					17																	79991391		2200	4300	6500	SO:0001583	missense	5881			AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.364G>T	17.37:g.79991391G>T	ENSP00000304283:p.Asp122Tyr		O14658|Q5U0M8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D122Y	ENST00000306897.4	37	c.364	CCDS11798.1	17	.	.	.	.	.	.	.	.	.	.	g	26.7	4.758744	0.89843	.	.	ENSG00000169750	ENST00000306897	T	0.70749	-0.51	3.91	3.91	0.45181	Small GTP-binding protein domain (1);	0.260108	0.36482	N	0.002572	D	0.87873	0.6287	H	0.94620	3.56	0.80722	D	1	D	0.58970	0.984	D	0.70487	0.969	D	0.91887	0.5520	9	.	.	.	.	16.1115	0.81266	0.0:0.0:1.0:0.0	.	122	P60763	RAC3_HUMAN	Y	122	ENSP00000304283:D122Y	.	D	+	1	0	RAC3	77584680	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	9.432000	0.97498	2.000000	0.58554	0.651000	0.88453	GAC	RAC3	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.672	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC3	HGNC	protein_coding	OTTHUMT00000442064.1	G			79991391	1	no_errors	ENST00000306897	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79991391	G	T	79991391	3	4	131	1	0	0	0	0	1	0	0	0	13006	1058	37	3	382	3	RAC3	17	79991391	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	889101	79991391	1203819	1708	21848										
HEXDC	284004	genome.wustl.edu	37	chr17	80377706	80377706	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccactccatttcagatgagaTtagttcatttagaccttaaa	5	9	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:80377706T>A	ENST00000327949.9	+	1	42	c.31T>A	c.(31-33)Tta>Ata	p.L11I	Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000577944.1_Missense_Mutation_p.L11I|OGFOD3_ENST00000313056.5_5'Flank|OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000337014.6_Missense_Mutation_p.L11I			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	11					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCAGATGAGATTAGTTCATTT	0.433																																																	0													92	93	93					17																	80377706		1877	4089	5966	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.31T>A	17.37:g.80377706T>A	ENSP00000332634:p.Leu11Ile		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.L11I	ENST00000327949.9	37	c.31		17	.	.	.	.	.	.	.	.	.	.	T	8.265	0.811958	0.16537	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90004	-2.6;-2.6	4.97	-5.98	0.02220	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.320200	0.25427	N	0.030760	T	0.76863	0.4047	L	0.31294	0.92	0.09310	N	1	P;B	0.44578	0.838;0.14	B;B	0.37692	0.256;0.122	T	0.72141	-0.4380	10	0.24483	T	0.36	-0.3699	13.7897	0.63133	0.0:0.7021:0.1369:0.161	.	11;11	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	I	11	ENSP00000337854:L11I;ENSP00000332634:L11I	ENSP00000332634:L11I	L	+	1	2	HEXDC	77970995	0.040000	0.19996	0.000000	0.03702	0.096000	0.18686	-0.678000	0.05209	-1.158000	0.02811	-0.899000	0.02877	TTA	HEXDC	-	superfamily_Glycoside_hydrolase_SF		0.433	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	T	NM_173620		80377706	1	no_errors	ENST00000337014	ensembl	human	known	70_37	missense	SNP	0.000	A	A	80377706	T	A	80377706	3	1	131	1	0	0	0	0	1	0	0	0	7095	1490	52	5	33	5	HEXDC	17	80377706	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	386315	80377706	817504	1709	21849										
CLUL1	27098	genome.wustl.edu	37	chr18	641528	641528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccagaaacagagatcatctTtaattcaatacaggtaaagg	7	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:641528T>G	ENST00000400606.2	+	7	1341	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Missense_Mutation_p.F399C|CLUL1_ENST00000581619.1_Missense_Mutation_p.F424C|CLUL1_ENST00000540035.1_Missense_Mutation_p.F451C|CLUL1_ENST00000338387.7_Missense_Mutation_p.F399C	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	399					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GAGATCATCTTTAATTCAATA	0.443																																																	0													69	69	69					18																	641528		1897	4104	6001	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1196T>G	18.37:g.641528T>G	ENSP00000383449:p.Phe399Cys		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.F399C	ENST00000400606.2	37	c.1196	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783365	0.31593	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.33216	1.42;1.42;1.42	5.45	4.25	0.50352	Clusterin, C-terminal (1);	0.051231	0.85682	D	0.000000	T	0.51278	0.1665	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.98;0.987	T	0.52230	-0.8603	10	0.87932	D	0	-1.7018	11.1852	0.48653	0.0:0.0:0.1539:0.8461	.	451;399	F5GWQ8;Q15846	.;CLUL1_HUMAN	C	399;451;399	ENSP00000383449:F399C;ENSP00000441726:F451C;ENSP00000341128:F399C	ENSP00000341128:F399C	F	+	2	0	CLUL1	631528	0.997000	0.39634	0.055000	0.19348	0.132000	0.20833	2.571000	0.45990	0.856000	0.35383	0.460000	0.39030	TTT	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_C		0.443	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	T			641528	1	no_errors	ENST00000338387	ensembl	human	known	70_37	missense	SNP	0.965	G	G	641528	T	G	641528	3	3	131	1	0	0	0	0	1	0	0	0	3575	1841	64	5	1218	5	CLUL1	18	641528	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09		641528	77435720	1710	21850										
ENOSF1	55556	genome.wustl.edu	37	chr18	697270	697270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcccatcacttgtgagctgCctatagaagcctctgaagtc	9	12	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:697270C>T	ENST00000251101.7	-	3	367	c.279G>A	c.(277-279)agG>agA	p.R93R	ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Silent_p.R114R|ENOSF1_ENST00000539164.1_Silent_p.R93R	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	93					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TTGTGAGCTGCCTATAGAAGC	0.443																																																	0													238	243	242					18																	697270		2203	4300	6503	SO:0001819	synonymous_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.279G>A	18.37:g.697270C>T			A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C	p.R114	ENST00000251101.7	37	c.342	CCDS11822.1	18																																																																																			ENOSF1	-	pfam_Mandelate_racemase_N		0.443	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	C	NM_017512		697270	-1	no_errors	ENST00000340116	ensembl	human	known	70_37	silent	SNP	1.000	T	T	697270	C	T	697270	2	4	131	1	0	0	0	0	0	0	0	1	5137	738	26	4		4	ENOSF1	18	697270	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	55742	697270	77379978	1711	21851										
EMILIN2	84034	genome.wustl.edu	37	chr18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttacattgaggaaacccttCggggcgccattaatggagag	12	8	0	2	rs546388595	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R476W(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAAACCCTTCGGGGCGCCAT	0.463													C|||	3	0.000599042	0	0.0014	5008	,	,		21889	0		0	False		,,,				2504	0.002																1	Substitution - Missense(1)	large_intestine(1)											87	96	93					18																	2891551		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1426C>T	18.37:g.2891551C>T	ENSP00000254528:p.Arg476Trp		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.R476W	ENST00000254528.3	37	c.1426	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801904	0.50315	.	.	ENSG00000132205	ENST00000254528	T	0.03689	3.84	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000007	T	0.14614	0.0353	M	0.62723	1.935	0.21527	N	0.999655	D	0.89917	1.0	D	0.76575	0.988	T	0.01935	-1.1244	10	0.54805	T	0.06	-39.8923	13.2759	0.60188	0.2884:0.7116:0.0:0.0	.	476	Q9BXX0	EMIL2_HUMAN	W	476	ENSP00000254528:R476W	ENSP00000254528:R476W	R	+	1	2	EMILIN2	2881551	0.045000	0.20229	0.866000	0.34008	0.642000	0.38348	0.473000	0.22132	1.242000	0.43836	0.563000	0.77884	CGG	EMILIN2	-	NULL		0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	C	NM_032048		2891551	1	no_errors	ENST00000254528	ensembl	human	known	70_37	missense	SNP	0.235	T	T	2891551	C	T	2891551	3	4	131	1	0	0	0	0	1	0	0	0	5106	875	31	1	1440	1	EMILIN2	18	2891551	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2194281	2891551	75185697	1712	21852										
LAMA1	284217	genome.wustl.edu	37	chr18	6980553	6980553	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctaagtatcaagagtgattCattggtttgcctggtaattt	9	5	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:6980553C>A	ENST00000389658.3	-	42	6067	c.5974G>T	c.(5974-5976)Gaa>Taa	p.E1992*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1992	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAGAGTGATTCATTGGTTTGC	0.348																																																	0													199	173	182					18																	6980553		2202	4300	6502	SO:0001587	stop_gained	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5974G>T	18.37:g.6980553C>A	ENSP00000374309:p.Glu1992*			Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1992*	ENST00000389658.3	37	c.5974	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	46	12.487558	0.99672	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.15	1.4	0.22301	.	0.789290	0.11598	N	0.548009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	8.3206	0.32126	0.0:0.6939:0.0:0.3061	.	.	.	.	X	1992	.	ENSP00000374309:E1992X	E	-	1	0	LAMA1	6970553	0.847000	0.29606	0.001000	0.08648	0.832000	0.47134	0.737000	0.26144	0.036000	0.15547	0.655000	0.94253	GAA	LAMA1	-	NULL		0.348	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		6980553	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	nonsense	SNP	0.779	A	A	6980553	C	A	6980553	4	1	131	1	0	0	0	0	0	1	0	0	8625	835	29	3	3341	3	LAMA1	18	6980553	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4089002	6980553	71096695	1713	21853										
KIAA0802	23255	genome.wustl.edu	37	chr18	8824835	8824835	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagacgacctcaagtacatCgaggagttcaacaagagctg	10	11	2	2	rs151273618		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:8824835C>A	ENST00000306329.11	+	13	4284	c.4284C>A	c.(4282-4284)atC>atA	p.I1428I	SOGA2_ENST00000517570.1_Silent_p.I1068I|SOGA2_ENST00000306285.7_Silent_p.I434I|SOGA2_ENST00000359865.3_Silent_p.I1109I|SOGA2_ENST00000518815.1_Silent_p.I434I|SOGA2_ENST00000400050.3_Silent_p.I1068I																							TCAAGTACATCGAGGAGTTCA	0.632																																																	0													74	68	70					18																	8824835		2203	4300	6503	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4284C>A	18.37:g.8824835C>A				Silent	SNP	pfam_DUF3166	p.I1109	ENST00000306329.11	37	c.3327		18																																																																																			SOGA2	-	NULL		0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	C			8824835	1	no_errors	ENST00000359865	ensembl	human	known	70_37	silent	SNP	0.031	A	A	8824835	C	A	8824835	2	1	131	1	0	0	0	0	0	0	0	1	8214	874	31	3		3	KIAA0802	18	8824835	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1844282	8824835	69252413	1714	21854										
RAB31	11031	genome.wustl.edu	37	chr18	9815133	9815133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gattcattttataccttgaaGaaatgggtcaaggagctgaa	10	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:9815133G>T	ENST00000578921.1	+	5	535	c.294G>T	c.(292-294)aaG>aaT	p.K98N		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	97					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ATACCTTGAAGAAATGGGTCA	0.383																																																	0													66	65	65					18																	9815133		1870	4080	5950	SO:0001583	missense	11031			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"RAB, member RAS oncogene"	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.294G>T	18.37:g.9815133G>T	ENSP00000461945:p.Lys98Asn		B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K98N	ENST00000578921.1	37	c.294	CCDS45826.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572077	0.86542	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	5.64	4.76	0.60689	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.56124	1.755	0.80722	D	1	D	0.62365	0.991	D	0.69142	0.962	T	0.68712	-0.5336	8	.	.	.	-13.1423	12.9737	0.58527	0.0808:0.0:0.9192:0.0	.	97	Q13636	RAB31_HUMAN	N	98;89	.	.	K	+	3	2	RAB31	9805133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.096000	0.50243	1.493000	0.48517	0.655000	0.94253	AAG	RAB31	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.383	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	HGNC	protein_coding	OTTHUMT00000442280.3	G			9815133	1	no_errors	ENST00000306096	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9815133	G	T	9815133	3	4	131	1	0	0	0	0	1	0	0	0	12950	933	33	3	312	3	RAB31	18	9815133	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	990298	9815133	68262115	1715	21855										
GNAL	2774	genome.wustl.edu	37	chr18	11876657	11876657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagatcccaaagttacaagAgccaagttctttatccggga	9	9	1	2	rs111984202		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:11876657A>C	ENST00000423027.3	+	11	1290	c.969A>C	c.(967-969)agA>agC	p.R323S	GNAL_ENST00000602628.1_Missense_Mutation_p.R116S|GNAL_ENST00000269162.5_Missense_Mutation_p.R323S|GNAL_ENST00000535121.1_Missense_Mutation_p.R323S|GNAL_ENST00000334049.6_Missense_Mutation_p.R400S			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	323					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAGTTACAAGAGCCAAGTTCT	0.348																																																	0													158	142	148					18																	11876657		2203	4300	6503	SO:0001583	missense	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.969A>C	18.37:g.11876657A>C	ENSP00000408489:p.Arg323Ser		B7ZA26|Q86XU3	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.R400S	ENST00000423027.3	37	c.1200	CCDS11852.1	18	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792820	0.50102	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.88	2.29	0.28610	.	0.041393	0.85682	D	0.000000	D	0.89203	0.6648	L	0.47716	1.5	0.80722	D	1	D;P	0.76494	0.999;0.888	D;P	0.70016	0.967;0.555	D	0.87777	0.2609	10	0.72032	D	0.01	.	9.5723	0.39436	0.7419:0.0:0.2581:0.0	.	323;400	P38405;Q86XU3	GNAL_HUMAN;.	S	262;400;323;323;323;116	ENSP00000334051:R400S;ENSP00000439023:R323S;ENSP00000269162:R323S;ENSP00000408489:R323S	ENSP00000269162:R323S	R	+	3	2	GNAL	11866657	1.000000	0.71417	0.980000	0.43619	0.975000	0.68041	2.330000	0.43885	0.498000	0.27948	0.528000	0.53228	AGA	GNAL	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S		0.348	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2	A	NM_182978, NM_002071		11876657	1	no_errors	ENST00000334049	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11876657	A	C	11876657	3	2	131	1	0	0	0	0	1	0	0	0	6526	301	11	5	1391	5	GNAL	18	11876657	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2061524	11876657	66200591	1716	21856										
CEP76	79959	genome.wustl.edu	37	chr18	12678430	12678430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttcatcaggattggtaggtTtatggatgtacctaaaaaaa	10	4	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:12678430T>G	ENST00000262127.2	-	10	1526	c.1301A>C	c.(1300-1302)aAa>aCa	p.K434T	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.K359T	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	434					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTGGTAGGTTTATGGATGTA	0.348																																																	0													84	81	82					18																	12678430		2203	4300	6503	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1301A>C	18.37:g.12678430T>G	ENSP00000262127:p.Lys434Thr		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K434T	ENST00000262127.2	37	c.1301	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	T	4.809	0.150501	0.09185	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.33438	1.41;1.41	5.46	5.46	0.80206	.	0.148678	0.64402	D	0.000019	T	0.16642	0.0400	N	0.14661	0.345	0.38988	D	0.959088	B;B	0.15719	0.014;0.004	B;B	0.15870	0.014;0.006	T	0.14200	-1.0481	10	0.12103	T	0.63	-19.7182	10.2688	0.43470	0.0:0.0836:0.0:0.9164	.	359;434	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	T	434;359	ENSP00000262127:K434T;ENSP00000403074:K359T	ENSP00000262127:K434T	K	-	2	0	CEP76	12668430	0.999000	0.42202	0.852000	0.33557	0.277000	0.26821	1.960000	0.40422	2.068000	0.61886	0.459000	0.35465	AAA	CEP76	-	NULL		0.348	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	T	NM_024899		12678430	-1	no_errors	ENST00000262127	ensembl	human	known	70_37	missense	SNP	0.977	G	G	12678430	T	G	12678430	3	3	131	1	0	0	0	0	1	0	0	0	3266	1841	64	5	690	5	CEP76	18	12678430	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	801773	12678430	65398818	1717	21857										
CEP192	55125	genome.wustl.edu	37	chr18	13068385	13068385	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatttctgatgatttgggttCttttccatagtccaaagaaa	7	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:13068385C>A	ENST00000325971.8	+	22	4591	c.2998C>A	c.(2998-3000)Ctt>Att	p.L1000I	CEP192_ENST00000430049.2_Missense_Mutation_p.L1121I|CEP192_ENST00000506447.1_Missense_Mutation_p.L1596I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1000					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATTTGGGTTCTTTTCCATAG	0.299																																																	0													92	95	94					18																	13068385		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2998C>A	18.37:g.13068385C>A	ENSP00000317156:p.Leu1000Ile		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.L1596I	ENST00000325971.8	37	c.4786		18	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551457	0.27739	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.42131	0.98;0.98;0.98	5.36	3.21	0.36854	.	0.222711	0.38663	N	0.001604	T	0.24736	0.0600	N	0.16656	0.425	0.26399	N	0.976454	B;B;B	0.26081	0.141;0.136;0.037	B;B;B	0.22753	0.041;0.025;0.024	T	0.14008	-1.0488	10	0.33141	T	0.24	-17.8298	10.2359	0.43284	0.3228:0.5637:0.1135:0.0	.	1121;1596;198	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1596;1000;1000;1121	ENSP00000427550:L1596I;ENSP00000317156:L1000I;ENSP00000389190:L1121I	ENSP00000317156:L1000I	L	+	1	0	CEP192	13058385	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.367000	0.44213	1.327000	0.45338	0.650000	0.86243	CTT	CEP192	-	NULL		0.299	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13068385	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13068385	C	A	13068385	3	1	131	1	0	0	0	0	1	0	0	0	3256	913	32	3	4876	3	CEP192	18	13068385	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	389955	13068385	65008863	1718	21858										
MC5R	4161	genome.wustl.edu	37	chr18	13825791	13825791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctcatttcacctgcatttCttggatctcaacctgaatgc	5	13	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:13825791C>A	ENST00000324750.3	+	1	249	c.27C>A	c.(25-27)ttC>ttA	p.F9L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	9					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ACCTGCATTTCTTGGATCTCA	0.418																																																	0													88	86	87					18																	13825791		2203	4300	6503	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.27C>A	18.37:g.13825791C>A	ENSP00000318077:p.Phe9Leu		B0YJ34|Q502V1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.F9L	ENST00000324750.3	37	c.27	CCDS11868.1	18	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820730	0.16678	.	.	ENSG00000176136	ENST00000324750	T	0.35789	1.29	5.39	2.51	0.30379	.	1.016950	0.07833	N	0.961735	T	0.15003	0.0362	N	0.08118	0	0.21220	N	0.999758	B	0.02656	0.0	B	0.04013	0.001	T	0.31475	-0.9942	10	0.02654	T	1	.	4.071	0.09882	0.1603:0.5065:0.0:0.3333	.	9	P33032	MC5R_HUMAN	L	9	ENSP00000318077:F9L	ENSP00000318077:F9L	F	+	3	2	MC5R	13815791	0.019000	0.18553	0.878000	0.34440	0.658000	0.38924	0.056000	0.14256	0.201000	0.20466	0.455000	0.32223	TTC	MC5R	-	prints_Melancort_rcpt_5		0.418	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC5R	HGNC	protein_coding	OTTHUMT00000254638.1	C	NM_005913		13825791	1	no_errors	ENST00000324750	ensembl	human	known	70_37	missense	SNP	0.806	A	A	13825791	C	A	13825791	3	1	131	1	0	0	0	0	1	0	0	0	9390	912	32	3	29	3	MC5R	18	13825791	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	757406	13825791	64251457	1719	21859										
ANKRD30B	374860	genome.wustl.edu	37	chr18	14828278	14828278	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttactcttttctttaatagaGgatgtgagttctgtagagtc	9	5	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:14828278G>T	ENST00000358984.4	+	27	2568	c.2388G>T	c.(2386-2388)gaG>gaT	p.E796D	MIR3156-2_ENST00000581101.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	796										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTTTAATAGAGGATGTGAGTT	0.299																																																	0													46	35	38					18																	14828278		692	1589	2281	SO:0001630	splice_region_variant	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2387-1G>T	18.37:g.14828278G>T			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E796D	ENST00000358984.4	37	c.2388	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	g	1.606	-0.525337	0.04141	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.05649	3.41	2.03	2.03	0.26663	.	.	.	.	.	T	0.03564	0.0102	L	0.31926	0.97	0.19300	N	0.999978	P	0.45594	0.862	B	0.31751	0.135	T	0.35226	-0.9797	9	0.13853	T	0.58	.	7.6624	0.28410	0.0:0.0:1.0:0.0	.	796	F8WAG3	.	D	796;190;216	ENSP00000351875:E796D	ENSP00000277669:E216D	E	+	3	2	ANKRD30B	14818278	0.002000	0.14202	0.002000	0.10522	0.044000	0.14063	0.128000	0.15810	1.477000	0.48234	0.289000	0.19496	GAG	ANKRD30B	-	NULL		0.299	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	G	NM_001145029	Missense_Mutation	14828278	1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.002	T	T	14828278	G	T	14828278	5	4	131	1	0	0	0	0	0	0	1	0	659	1014	35	4	2494	4	ANKRD30B	18	14828278	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1002487	14828278	63248970	1720	21860										
CTAGE1	64693	genome.wustl.edu	37	chr18	19996268	19996268	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaagttggaggatagagagAagctctcgtttcagatgaag	13	5	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:19996268A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.S503P			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGATAGAGAGAAGCTCTCGTT	0.517																																																	0													109	110	110					18																	19996268		2203	4300	6503	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996268A>G	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.S503P	ENST00000525417.1	37	c.1507		18	.	.	.	.	.	.	.	.	.	.	A	6.591	0.477375	0.12521	.	.	ENSG00000212710	ENST00000391403	T	0.43688	0.94	0.779	0.779	0.18550	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.09310	N	1	B	0.23316	0.083	B	0.17098	0.017	T	0.21827	-1.0234	8	.	.	.	.	3.8465	0.08937	1.0:0.0:0.0:0.0	.	503	Q96RT6	CTGE2_HUMAN	P	503	ENSP00000375220:S503P	.	S	-	1	0	CTAGE1	18250266	1.000000	0.71417	0.005000	0.12908	0.006000	0.05464	3.541000	0.53618	0.582000	0.29556	0.392000	0.25879	TCT	CTAGE1	-	NULL		0.517	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	A	NM_022663, NM_172241		19996268	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	missense	SNP	0.007	G	G	19996268	A	G	19996268	1	3	131	0	1	0	0	0	0	0	0	0	3997	246	9	5		5	CTAGE1	18	19996268	5'Flank	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	5167990	19996268	58080980	1721	21861										
OSBPL1A	114876	genome.wustl.edu	37	chr18	21746657	21746657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaccattgcaaaactagtaaAattatacatctgaaaagaag	5	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:21746657A>C	ENST00000319481.3	-	26	2751	c.2545T>G	c.(2545-2547)Ttt>Gtt	p.F849V	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.F336V|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.F467V	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	849					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAACTAGTAAAATTATACATC	0.378																																																	0													98	97	98					18																	21746657		2203	4300	6503	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2545T>G	18.37:g.21746657A>C	ENSP00000320291:p.Phe849Val		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.F849V	ENST00000319481.3	37	c.2545	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613456	0.46631	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.38560	1.13;1.13;1.13	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85776	0.1358	10	0.72032	D	0.01	-26.4489	16.2099	0.82148	1.0:0.0:0.0:0.0	.	849	Q9BXW6	OSBL1_HUMAN	V	849;336;467	ENSP00000320291:F849V;ENSP00000382372:F336V;ENSP00000349545:F467V	ENSP00000320291:F849V	F	-	1	0	OSBPL1A	20000655	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.188000	0.94921	2.289000	0.77006	0.477000	0.44152	TTT	OSBPL1A	-	pfam_Oxysterol-bd		0.378	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	A	NM_080597		21746657	-1	no_errors	ENST00000319481	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21746657	A	C	21746657	3	2	131	1	0	0	0	0	1	0	0	0	11301	14	1	5	319	5	OSBPL1A	18	21746657	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1750389	21746657	56330591	1722	21862										
HRH4	59340	genome.wustl.edu	37	chr18	22056721	22056721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttcttctaggtgtcttataGaactcaacatactggggtct	8	8	5	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:22056721G>T	ENST00000256906.4	+	3	468	c.368G>T	c.(367-369)aGa>aTa	p.R123I	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	123					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	GTGTCTTATAGAACTCAACAT	0.378																																																	0													135	131	132					18																	22056721		2203	4300	6503	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.368G>T	18.37:g.22056721G>T	ENSP00000256906:p.Arg123Ile		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R123I	ENST00000256906.4	37	c.368	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647632	0.87958	.	.	ENSG00000134489	ENST00000256906	T	0.73258	-0.73	5.79	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82102	-0.0623	9	0.33141	T	0.24	-18.6938	15.3693	0.74551	0.0:0.0:0.8596:0.1404	.	123	Q9H3N8	HRH4_HUMAN	I	123	ENSP00000256906:R123I	ENSP00000256906:R123I	R	+	2	0	HRH4	20310719	1.000000	0.71417	0.939000	0.37840	0.992000	0.81027	8.637000	0.91014	1.440000	0.47531	0.655000	0.94253	AGA	HRH4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.378	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	G			22056721	1	no_errors	ENST00000256906	ensembl	human	known	70_37	missense	SNP	0.996	T	T	22056721	G	T	22056721	3	4	131	1	0	0	0	0	1	0	0	0	7378	946	33	3	378	3	HRH4	18	22056721	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	310064	22056721	56020527	1723	21863										
DSC2	1824	genome.wustl.edu	37	chr18	28669412	28669412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagactttacctcaaaagatTcatactgctcacgatctaca	4	11	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:28669412T>G	ENST00000280904.6	-	5	1063	c.620A>C	c.(619-621)gAa>gCa	p.E207A	DSC2_ENST00000251081.6_Missense_Mutation_p.E207A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	207	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTCAAAAGATTCATACTGCTC	0.393																																																	0													93	89	90					18																	28669412		2203	4300	6503	SO:0001583	missense	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.620A>C	18.37:g.28669412T>G	ENSP00000280904:p.Glu207Ala			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E207A	ENST00000280904.6	37	c.620	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	T	5.404	0.259711	0.10239	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.60548	0.18;0.18	6.16	-1.2	0.09554	Cadherin (4);Cadherin-like (1);	1.297240	0.05969	N	0.642084	T	0.49966	0.1588	N	0.21097	0.63	0.09310	N	1	P;P	0.40553	0.635;0.721	B;B	0.39935	0.314;0.209	T	0.53872	-0.8377	10	0.37606	T	0.19	.	20.1103	0.97910	0.0:0.0:0.7448:0.2552	.	207;207	Q02487;Q02487-2	DSC2_HUMAN;.	A	207;207;220	ENSP00000251081:E207A;ENSP00000280904:E207A	ENSP00000251081:E207A	E	-	2	0	DSC2	26923410	0.197000	0.23362	0.005000	0.12908	0.079000	0.17450	1.159000	0.31749	-0.083000	0.12618	-0.323000	0.08544	GAA	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	T	NM_004949		28669412	-1	no_errors	ENST00000280904	ensembl	human	known	70_37	missense	SNP	0.012	G	G	28669412	T	G	28669412	3	3	131	1	0	0	0	0	1	0	0	0	4776	1783	62	5	2173	5	DSC2	18	28669412	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	6612691	28669412	49407836	1724	21864										
DSG1	1828	genome.wustl.edu	37	chr18	28911707	28911707	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctactgacgcagatgaaccGaacaatttgaactcaaaaat	7	9	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:28911707G>A	ENST00000257192.4	+	6	773	c.561G>A	c.(559-561)ccG>ccA	p.P187P		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAGATGAACCGAACAATTTGA	0.333																																																	0													80	74	76					18																	28911707		2203	4299	6502	SO:0001819	synonymous_variant	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.561G>A	18.37:g.28911707G>A			B7Z845	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin	p.P187	ENST00000257192.4	37	c.561	CCDS11896.1	18																																																																																			DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	G	NM_001942		28911707	1	no_errors	ENST00000257192	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28911707	G	A	28911707	2	1	131	1	0	0	0	0	0	0	0	1	4786	1045	37	1		1	DSG1	18	28911707	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	242295	28911707	49165541	1725	21865										
DSG3	1830	genome.wustl.edu	37	chr18	29040886	29040886	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgtaatattaaagtgaaaGatgtcaacgataacttccca	6	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29040886G>T	ENST00000257189.4	+	7	858	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	259	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAAGTGAAAGATGTCAACGA	0.353																																																	0													98	88	91					18																	29040886		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.775G>T	18.37:g.29040886G>T	ENSP00000257189:p.Asp259Tyr		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.D259Y	ENST00000257189.4	37	c.775	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076604	0.76415	.	.	ENSG00000134757	ENST00000257189	T	0.67865	-0.29	5.34	5.34	0.76211	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000101	D	0.90501	0.7024	H	0.99545	4.62	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.94507	0.7715	10	0.87932	D	0	.	19.0065	0.92852	0.0:0.0:1.0:0.0	.	259	P32926	DSG3_HUMAN	Y	259	ENSP00000257189:D259Y	ENSP00000257189:D259Y	D	+	1	0	DSG3	27294884	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.321000	0.72881	2.651000	0.90000	0.585000	0.79938	GAT	DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.353	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29040886	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29040886	G	T	29040886	3	4	131	1	0	0	0	0	1	0	0	0	4788	942	33	3	801	3	DSG3	18	29040886	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	129179	29040886	49036362	1726	21866										
B4GALT6	9331	genome.wustl.edu	37	chr18	29218714	29218714	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcgattacggaaaggaatgaGaactgccacctttaaaacaa	9	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29218714G>T	ENST00000306851.5	-	5	777	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	B4GALT6_ENST00000237019.7_Missense_Mutation_p.L122I|B4GALT6_ENST00000383131.3_Intron	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	161					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAAGGAATGAGAACTGCCACC	0.358																																																	0													73	72	72					18																	29218714		2203	4300	6503	SO:0001583	missense	9331			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.481C>A	18.37:g.29218714G>T	ENSP00000306459:p.Leu161Ile		O60514|Q6NT09	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.L161I	ENST00000306851.5	37	c.481	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	G	4.776	0.144339	0.09134	.	.	ENSG00000118276	ENST00000306851;ENST00000237019	T;T	0.22539	1.95;1.95	5.78	5.78	0.91487	.	0.084341	0.50627	D	0.000107	T	0.12987	0.0315	N	0.20881	0.62	0.80722	D	1	B;B	0.15141	0.01;0.012	B;B	0.27170	0.045;0.077	T	0.07083	-1.0791	10	0.02654	T	1	-0.8201	10.598	0.45349	0.0698:0.0:0.7961:0.1341	.	122;161	G3XA83;Q9UBX8	.;B4GT6_HUMAN	I	161;122	ENSP00000306459:L161I;ENSP00000237019:L122I	ENSP00000237019:L122I	L	-	1	0	B4GALT6	27472712	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.146000	0.58072	2.737000	0.93849	0.563000	0.77884	CTC	B4GALT6	-	pfam_Galactosyl_T_2_met		0.358	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2	G	NM_004775		29218714	-1	no_errors	ENST00000306851	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29218714	G	T	29218714	3	4	131	1	0	0	0	0	1	0	0	0	1276	942	33	3	687	3	B4GALT6	18	29218714	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	177828	29218714	48858534	1727	21867										
KIAA1012	22878	genome.wustl.edu	37	chr18	29429636	29429636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacaggcaagtgagcttgtgGttttttcaattcagaagata	10	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29429636G>T	ENST00000283351.4	-	25	3963	c.3628C>A	c.(3628-3630)Cca>Aca	p.P1210T	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1156T	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1210					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.P1210T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGCTTGTGGTTTTTTCAAT	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											96	90	92					18																	29429636		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3628C>A	18.37:g.29429636G>T	ENSP00000283351:p.Pro1210Thr		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.P1210T	ENST00000283351.4	37	c.3628	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	G	4.853	0.158513	0.09236	.	.	ENSG00000153339	ENST00000283351	T	0.16743	2.32	5.57	-2.57	0.06248	.	1.181700	0.05698	N	0.593509	T	0.05135	0.0137	N	0.01874	-0.695	0.36324	D	0.858422	B	0.02656	0.0	B	0.06405	0.002	T	0.47623	-0.9103	10	0.12766	T	0.61	.	4.4232	0.11490	0.1433:0.0869:0.1649:0.6049	.	1210	Q9Y2L5	TPPC8_HUMAN	T	1210	ENSP00000283351:P1210T	ENSP00000283351:P1210T	P	-	1	0	TRAPPC8	27683634	0.852000	0.29690	0.153000	0.22517	0.420000	0.31355	0.265000	0.18515	-0.016000	0.14127	-0.182000	0.12963	CCA	TRAPPC8	-	NULL		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	G	NM_014939		29429636	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	0.025	T	T	29429636	G	T	29429636	3	4	131	1	0	0	0	0	1	0	0	0	8224	1261	44	4	699	4	KIAA1012	18	29429636	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	210922	29429636	48647612	1728	21868										
MEP1B	4225	genome.wustl.edu	37	chr18	29793309	29793309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atagccctccattttactctTctaaaggttatgcctttcag	5	11	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29793309T>G	ENST00000269202.6	+	11	1413	c.1366T>G	c.(1366-1368)Tct>Gct	p.S456A	MEP1B_ENST00000581447.1_Missense_Mutation_p.S456A	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	456	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTTTACTCTTCTAAAGGTTA	0.403																																																	0													84	78	80					18																	29793309		1874	4103	5977	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1366T>G	18.37:g.29793309T>G	ENSP00000269202:p.Ser456Ala		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom	p.S456A	ENST00000269202.6	37	c.1366	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432508	0.43224	.	.	ENSG00000141434	ENST00000269202	T	0.46819	0.86	5.68	-3.71	0.04424	TRAF-type (1);TRAF-like (1);MATH (3);	0.675819	0.15932	N	0.237637	T	0.45597	0.1350	M	0.74881	2.28	0.22127	N	0.999341	B	0.30511	0.282	B	0.37731	0.257	T	0.50759	-0.8790	10	0.41790	T	0.15	-3.9632	8.6364	0.33950	0.2316:0.576:0.0:0.1923	.	456	Q16820	MEP1B_HUMAN	A	456	ENSP00000269202:S456A	ENSP00000269202:S456A	S	+	1	0	MEP1B	28047307	0.204000	0.23447	0.996000	0.52242	0.981000	0.71138	0.075000	0.14686	-0.177000	0.10690	0.383000	0.25322	TCT	MEP1B	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_MATH		0.403	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	T	NM_005925		29793309	1	no_errors	ENST00000269202	ensembl	human	known	70_37	missense	SNP	0.707	G	G	29793309	T	G	29793309	3	3	131	1	0	0	0	0	1	0	0	0	9499	1783	62	5	1408	5	MEP1B	18	29793309	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	363673	29793309	48283939	1729	21869										
HAUS1	115106	genome.wustl.edu	37	chr18	43704826	43704826	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caacagactatacctttgaaGaaaaaattggagtcctattt	6	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:43704826G>T	ENST00000282058.6	+	7	785	c.705G>T	c.(703-705)aaG>aaT	p.K235N	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Nonsense_Mutation_p.E104*	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	235					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TACCTTTGAAGAAAAAATTGG	0.358																																					NSCLC(79;183 1423 5813 15597 38427)												0													114	122	120					18																	43704826		2203	4300	6503	SO:0001583	missense	115106			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.705G>T	18.37:g.43704826G>T	ENSP00000282058:p.Lys235Asn		B2RDM7|Q8N837	Nonsense_Mutation	SNP	NULL	p.E104*	ENST00000282058.6	37	c.310	CCDS11928.1	18	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339606	0.60963	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.16	4.28	0.50868	.	0.042393	0.85682	D	0.000000	T	0.71476	0.3344	M	0.77103	2.36	0.53688	D	0.999971	D	0.76494	0.999	D	0.68192	0.956	T	0.72243	-0.4350	9	0.51188	T	0.08	0.0938	8.12	0.30965	0.1835:0.0:0.8165:0.0	.	235	Q96CS2	HAUS1_HUMAN	N	235	.	ENSP00000282058:K235N	K	+	3	2	HAUS1	41958824	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.886000	0.39688	1.289000	0.44618	0.650000	0.86243	AAG	HAUS1	-	NULL		0.358	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS1	HGNC	protein_coding	OTTHUMT00000255885.1	G	NM_138443		43704826	1	no_errors	ENST00000585518	ensembl	human	putative	70_37	nonsense	SNP	1.000	T	T	43704826	G	T	43704826	3	4	131	1	0	0	0	0	1	0	0	0	6985	933	33	3	731	3	HAUS1	18	43704826	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	13911517	43704826	34372422	1730	21870										
ME2	4200	genome.wustl.edu	37	chr18	48446854	48446854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaacacactcattcagttcGaagactttggaaatcataat	7	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:48446854G>A	ENST00000321341.5	+	8	1035	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ME2_ENST00000382927.3_Missense_Mutation_p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	255					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CATTCAGTTCGAAGACTTTGG	0.338																																																	0													82	79	80					18																	48446854		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.763G>A	18.37:g.48446854G>A	ENSP00000321070:p.Glu255Lys		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.E255K	ENST00000321341.5	37	c.763	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792285	0.70452	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.69926	-0.44;-0.44	5.75	4.88	0.63580	Malic enzyme, N-terminal (2);	0.093379	0.64402	D	0.000001	D	0.84817	0.5556	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88209	0.2889	10	0.87932	D	0	-32.7179	13.8913	0.63740	0.0746:0.0:0.9254:0.0	.	255;255	Q9BWL6;P23368	.;MAOM_HUMAN	K	255	ENSP00000321070:E255K;ENSP00000372384:E255K	ENSP00000321070:E255K	E	+	1	0	ME2	46700852	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	9.843000	0.99491	1.446000	0.47643	-0.157000	0.13467	GAA	ME2	-	pfam_Malic_N,prints_Malic_OxRdtase		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	G	NM_002396		48446854	1	no_errors	ENST00000321341	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48446854	G	A	48446854	3	1	131	1	0	0	0	0	1	0	0	0	9441	1059	37	1	789	1	ME2	18	48446854	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4742028	48446854	29630394	1731	21871										
DCC	1630	genome.wustl.edu	37	chr18	50832091	50832091	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctggtacctattcacaggTcagtgttcacatggtgtagt	10	9	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:50832091T>G	ENST00000442544.2	+	13	2669		c.e13+2		DCC_ENST00000412726.1_Splice_Site|DCC_ENST00000581580.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATTCACAGGTCAGTGTTCAC	0.413																																																	0													90	94	93					18																	50832091		2203	4300	6503	SO:0001630	splice_region_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2053+2T>G	18.37:g.50832091T>G				Splice_Site	SNP	-	e13+2	ENST00000442544.2	37	c.2053+2	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800361	0.90538	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0365	0.71751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	49086089	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.845000	0.69437	2.239000	0.73571	0.533000	0.62120	.	DCC	-	-		0.413	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	T	NM_005215	Intron	50832091	1	no_errors	ENST00000442544	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	50832091	T	G	50832091	5	3	131	1	0	0	0	0	0	0	1	0	4287	1681	58	5	2105	5	DCC	18	50832091	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2385237	50832091	27245157	1732	21872										
POLI	11201	genome.wustl.edu	37	chr18	51809299	51809299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacccaaaattttagaaaaaGaattaggaatttcagttgct	6	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:51809299G>T	ENST00000579534.1	+	6	1032	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	POLI_ENST00000217800.5_Nonsense_Mutation_p.E171*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E194*|POLI_ENST00000406285.3_Nonsense_Mutation_p.E218*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	297					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TTTAGAAAAAGAATTAGGAAT	0.398								DNA polymerases (catalytic subunits)																																									0													49	48	48					18																	51809299		2203	4300	6503	SO:0001587	stop_gained	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.889G>T	18.37:g.51809299G>T	ENSP00000462664:p.Glu297*		Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N	p.E297*	ENST00000579534.1	37	c.889	CCDS11954.2	18	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737212	0.89482	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.96	5.09	0.68999	.	0.120624	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-24.9896	14.0426	0.64687	0.0733:0.0:0.9267:0.0	.	.	.	.	X	218;297	.	ENSP00000217800:E297X	E	+	1	0	POLI	50063297	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.629000	0.54266	1.527000	0.49086	0.655000	0.94253	GAA	POLI	-	pfam_DNA_pol_Y-fam_little_finger		0.398	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLI	HGNC	protein_coding	OTTHUMT00000256002.3	G	NM_007195		51809299	1	no_errors	ENST00000579534	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	51809299	G	T	51809299	4	4	131	1	0	0	0	0	0	1	0	0	12227	943	33	3	911	3	POLI	18	51809299	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	977208	51809299	26267949	1733	21873										
STARD6	147323	genome.wustl.edu	37	chr18	51863617	51863617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaattatcccttcaacacGatatctacagttaacaaaat	4	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:51863617G>A	ENST00000581310.1	-	6	518	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	STARD6_ENST00000307844.3_Missense_Mutation_p.R49C|STARD6_ENST00000580990.2_5'UTR			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	49	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CCTTCAACACGATATCTACAG	0.313																																																	0													105	98	100					18																	51863617		2203	4297	6500	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.145C>T	18.37:g.51863617G>A	ENSP00000462349:p.Arg49Cys			Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.R49C	ENST00000581310.1	37	c.145	CCDS11955.1	18	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329169	0.60743	.	.	ENSG00000174448	ENST00000307844	D	0.84516	-1.86	5.4	4.53	0.55603	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000005	D	0.83815	0.5336	M	0.78637	2.42	0.58432	D	0.999992	B	0.32160	0.358	B	0.30105	0.111	D	0.83996	0.0340	10	0.87932	D	0	.	10.6604	0.45698	0.0887:0.0:0.9113:0.0	.	49	P59095	STAR6_HUMAN	C	49	ENSP00000310814:R49C	ENSP00000310814:R49C	R	-	1	0	STARD6	50117615	0.996000	0.38824	1.000000	0.80357	0.865000	0.49528	2.959000	0.49153	1.415000	0.47037	-0.119000	0.15052	CGT	STARD6	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.313	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	HGNC	protein_coding	OTTHUMT00000256000.3	G	NM_139171		51863617	-1	no_errors	ENST00000307844	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51863617	G	A	51863617	3	1	131	1	0	0	0	0	1	0	0	0	15291	1058	37	1	532	1	STARD6	18	51863617	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	54318	51863617	26213631	1734	21874										
TCF4	6925	genome.wustl.edu	37	chr18	52927229	52927229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttgaagggtttgatgaaaaGctgttgttagtgtgatctgg	15	2	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:52927229G>T	ENST00000356073.4	-	13	1631	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	TCF4_ENST00000566279.1_Missense_Mutation_p.S280R|TCF4_ENST00000570287.2_Missense_Mutation_p.S180R|TCF4_ENST00000564228.1_Missense_Mutation_p.S269R|TCF4_ENST00000561831.3_Missense_Mutation_p.S180R|TCF4_ENST00000570177.2_Missense_Mutation_p.S210R|TCF4_ENST00000354452.3_Missense_Mutation_p.S340R|TCF4_ENST00000398339.1_Missense_Mutation_p.S442R|TCF4_ENST00000566286.1_Missense_Mutation_p.S338R|TCF4_ENST00000457482.3_Missense_Mutation_p.S180R|TCF4_ENST00000544241.2_Missense_Mutation_p.S269R|TCF4_ENST00000537856.3_Missense_Mutation_p.S210R|TCF4_ENST00000540999.1_Missense_Mutation_p.S316R|TCF4_ENST00000568740.1_Missense_Mutation_p.S315R|TCF4_ENST00000561992.1_Missense_Mutation_p.S210R|TCF4_ENST00000543082.1_Missense_Mutation_p.S298R|TCF4_ENST00000567880.1_Missense_Mutation_p.S280R|TCF4_ENST00000565018.2_Missense_Mutation_p.S340R|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.S346R|TCF4_ENST00000537578.1_Missense_Mutation_p.S316R|TCF4_ENST00000564999.1_Missense_Mutation_p.S340R|TCF4_ENST00000568673.1_Missense_Mutation_p.S316R	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	340					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGATGAAAAGCTGTTGTTAG	0.328																																																	0													146	153	151					18																	52927229		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1020C>A	18.37:g.52927229G>T	ENSP00000348374:p.Ser340Arg		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S442R	ENST00000356073.4	37	c.1326	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249929	0.80024	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.06	5.19	0.71726	.	0.085942	0.85682	D	0.000000	T	0.65080	0.2657	M	0.83012	2.62	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;0.998;0.999;0.997;0.996;0.992;0.998;0.999	D;D;D;D;P;D;D;D;D	0.91635	0.937;0.999;0.948;0.998;0.897;0.954;0.933;0.952;0.943	T	0.68315	-0.5441	10	0.87932	D	0	-16.8238	11.0448	0.47852	0.1442:0.0:0.8558:0.0	.	316;340;180;442;340;298;269;180;338	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	R	340;180;340;298;316;316;269;210;442	ENSP00000346440:S340R;ENSP00000409447:S180R;ENSP00000348374:S340R;ENSP00000439656:S298R;ENSP00000445202:S316R;ENSP00000440731:S316R;ENSP00000441562:S269R;ENSP00000439827:S210R;ENSP00000381382:S442R	ENSP00000346440:S340R	S	-	3	2	TCF4	51078227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.603000	0.36794	2.880000	0.98712	0.650000	0.86243	AGC	TCF4	-	NULL		0.328	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	G	NM_003199		52927229	-1	no_errors	ENST00000398339	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52927229	G	T	52927229	3	4	131	1	0	0	0	0	1	0	0	0	15725	962	34	4	1023	4	TCF4	18	52927229	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1063612	52927229	25150019	1735	21875										
ATP8B1	5205	genome.wustl.edu	37	chr18	55362544	55362544	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctagtctgttattgggttCttcacattcaataaaacctt	5	8	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:55362544C>A	ENST00000283684.4	-	9	798	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.E267*|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'Flank			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	267					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTATTGGGTTCTTCACATTCA	0.299																																																	0													73	72	73					18																	55362544		2203	4299	6502	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.799G>T	18.37:g.55362544C>A	ENSP00000283684:p.Glu267*		Q9BTP8	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E267*	ENST00000283684.4	37	c.799	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	C	38	6.828956	0.97869	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.91	5.91	0.95273	.	0.096802	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000283684:E267X	E	-	1	0	ATP8B1	53513542	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.041000	0.70988	2.793000	0.96121	0.655000	0.94253	GAA	ATP8B1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.299	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	C	NM_005603		55362544	-1	no_errors	ENST00000283684	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55362544	C	A	55362544	4	1	131	1	0	0	0	0	0	1	0	0	1195	922	32	3	3032	3	ATP8B1	18	55362544	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2435315	55362544	22714704	1736	21876										
CPLX4	339302	genome.wustl.edu	37	chr18	56985653	56985653	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaccaccaaatcctaaattCtttacctggttacttatcat	2	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:56985653C>A	ENST00000299721.3	-	1	228	c.42G>T	c.(40-42)aaG>aaT	p.K14N	CPLX4_ENST00000587244.1_Missense_Mutation_p.K14N	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	14					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.K14N(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				ATCCTAAATTCTTTACCTGGT	0.383																																																	1	Substitution - Missense(1)	breast(1)											131	122	125					18																	56985653		2203	4300	6503	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.42G>T	18.37:g.56985653C>A	ENSP00000299721:p.Lys14Asn		F1T0L6	Missense_Mutation	SNP	pfam_Synaphin	p.K14N	ENST00000299721.3	37	c.42	CCDS11973.1	18	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219105	0.58560	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.36	4.49	0.54785	.	0.098210	0.64402	D	0.000002	T	0.60405	0.2266	L	0.56769	1.78	0.50171	D	0.999851	P	0.45348	0.856	P	0.48368	0.575	T	0.64575	-0.6375	9	0.87932	D	0	-14.719	11.0481	0.47870	0.0:0.8483:0.0:0.1517	.	14	Q7Z7G2	CPLX4_HUMAN	N	14	.	ENSP00000299721:K14N	K	-	3	2	CPLX4	55136633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.511000	0.35801	1.395000	0.46643	0.655000	0.94253	AAG	CPLX4	-	pfam_Synaphin		0.383	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX4	HGNC	protein_coding	OTTHUMT00000256127.1	C	NM_181654		56985653	-1	no_errors	ENST00000299721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56985653	C	A	56985653	3	1	131	1	0	0	0	0	1	0	0	0	3812	912	32	3	452	3	CPLX4	18	56985653	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1623109	56985653	21091595	1737	21877										
SERPINB13	5275	genome.wustl.edu	37	chr18	61261713	61261713	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagaaaatactaaggaagaGaaattttggatgaataaggt	10	1	0	3	rs377348890		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:61261713G>T	ENST00000344731.5	+	6	699	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SERPINB13_ENST00000269489.5_Missense_Mutation_p.E199D	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	199					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTAAGGAAGAGAAATTTTGGA	0.408																																																	0								G	ASP/GLU	0,4406		0,0,2203	86	85	85		597	-2.5	0.6	18		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	199/392	61261713	1,13005	2203	4300	6503	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.597G>T	18.37:g.61261713G>T	ENSP00000341584:p.Glu199Asp		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E199D	ENST00000344731.5	37	c.597	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918198	0.33815	0.0	1.16E-4	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84442	-1.85;-1.85	5.73	-2.46	0.06461	Serpin domain (3);	0.117465	0.38492	N	0.001668	D	0.85344	0.5675	L	0.42686	1.345	0.09310	N	1	B;P;D	0.76494	0.104;0.798;0.999	B;B;D	0.80764	0.203;0.348;0.994	T	0.77138	-0.2698	10	0.44086	T	0.13	.	8.3489	0.32290	0.5586:0.1117:0.3297:0.0	.	208;117;199	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	D	199;117;199	ENSP00000269489:E199D;ENSP00000341584:E199D	ENSP00000269489:E199D	E	+	3	2	SERPINB13	59412693	0.000000	0.05858	0.583000	0.28640	0.981000	0.71138	-1.429000	0.02437	-0.314000	0.08716	0.655000	0.94253	GAG	SERPINB13	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	G	NM_012397		61261713	1	no_errors	ENST00000344731	ensembl	human	known	70_37	missense	SNP	0.000	T	T	61261713	G	T	61261713	3	4	131	1	0	0	0	0	1	0	0	0	14130	933	33	3	615	3	SERPINB13	18	61261713	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4276060	61261713	16815535	1738	21878										
CDH19	28513	genome.wustl.edu	37	chr18	64218334	64218334	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaatcctttttacttactttCtttaaatataggcttattgt	4	6	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:64218334C>A	ENST00000540086.1	-	5	1018	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	CDH19_ENST00000262150.2_Nonsense_Mutation_p.E258*	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	368	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TACTTACTTTCTTTAAATATA	0.294																																																	0													42	45	44					18																	64218334		2201	4300	6501	SO:0001587	stop_gained	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.772G>T	18.37:g.64218334C>A	ENSP00000439593:p.Glu258*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E258*	ENST00000540086.1	37	c.772	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.433411	0.98282	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	.	.	.	5.83	1.7	0.24286	.	0.557358	0.19788	N	0.106053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.9567	0.05878	0.1086:0.4084:0.3135:0.1695	.	.	.	.	X	258;258;203	.	ENSP00000262150:E258X	E	-	1	0	CDH19	62369314	0.575000	0.26692	1.000000	0.80357	0.985000	0.73830	-0.017000	0.12590	0.815000	0.34398	0.585000	0.79938	GAA	CDH19	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.294	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	C	NM_021153		64218334	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	nonsense	SNP	0.989	A	A	64218334	C	A	64218334	4	1	131	1	0	0	0	0	0	1	0	0	3109	922	32	3	1578	3	CDH19	18	64218334	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2956621	64218334	13858914	1739	21879										
DSEL	92126	genome.wustl.edu	37	chr18	65178949	65178949	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacttctttgttctggcaaaGactctctccttttaaatttt	5	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:65178949G>T	ENST00000310045.7	-	2	4400	c.2927C>A	c.(2926-2928)tCt>tAt	p.S976Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	966					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCTGGCAAAGACTCTCTCCT	0.388																																																	0													47	53	51					18																	65178949		2188	4297	6485	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2927C>A	18.37:g.65178949G>T	ENSP00000310565:p.Ser976Tyr		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.S976Y	ENST00000310045.7	37	c.2927	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057076	0.55325	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19532	2.14	5.17	5.17	0.71159	Sulfotransferase domain (1);	0.192963	0.34338	U	0.004047	T	0.36608	0.0973	L	0.51422	1.61	0.35839	D	0.825903	P	0.50710	0.938	P	0.55161	0.77	T	0.38351	-0.9665	10	0.51188	T	0.08	-22.4793	18.6816	0.91548	0.0:0.0:1.0:0.0	.	966	Q8IZU8	DSEL_HUMAN	Y	976;966	ENSP00000310565:S976Y	ENSP00000310565:S976Y	S	-	2	0	DSEL	63329929	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.234000	0.65343	2.403000	0.81681	0.563000	0.77884	TCT	DSEL	-	pfam_Sulfotransferase_dom		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	G	NM_032160		65178949	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65178949	G	T	65178949	3	4	131	1	0	0	0	0	1	0	0	0	4785	942	33	3	745	3	DSEL	18	65178949	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	960615	65178949	12898299	1740	21880										
DSEL	92126	genome.wustl.edu	37	chr18	65179459	65179459	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcgcattagttttctaaaaGaaaggtaaaaacgccattgg	8	6	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:65179459G>T	ENST00000310045.7	-	2	3890	c.2417C>A	c.(2416-2418)tCt>tAt	p.S806Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	796					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCTAAAAGAAAGGTAAAA	0.338																																																	0													49	51	51					18																	65179459		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2417C>A	18.37:g.65179459G>T	ENSP00000310565:p.Ser806Tyr		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.S806Y	ENST00000310045.7	37	c.2417	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778123	0.49786	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20200	2.09	4.98	4.98	0.66077	.	0.071115	0.56097	U	0.000024	T	0.39462	0.1079	M	0.63428	1.95	0.53005	D	0.999963	D	0.61697	0.99	P	0.56398	0.797	T	0.19224	-1.0312	10	0.51188	T	0.08	.	17.8508	0.88747	0.0:0.0:1.0:0.0	.	796	Q8IZU8	DSEL_HUMAN	Y	806;796	ENSP00000310565:S806Y	ENSP00000310565:S806Y	S	-	2	0	DSEL	63330439	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.587000	0.67510	2.309000	0.77851	0.455000	0.32223	TCT	DSEL	-	NULL		0.338	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	G	NM_032160		65179459	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65179459	G	T	65179459	3	4	131	1	0	0	0	0	1	0	0	0	4785	942	33	3	1255	3	DSEL	18	65179459	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	510	65179459	12897789	1741	21881										
CTDP1	9150	genome.wustl.edu	37	chr18	77513768	77513768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatggccaaggcgctggaggCggagctcaacgacctcatgt	15	11	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:77513768C>T	ENST00000299543.7	+	13	3011	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	955					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCGCTGGAGGCGGAGCTCAAC	0.672																																																	0													33	33	33					18																	77513768		2202	4299	6501	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2864C>T	18.37:g.77513768C>T	ENSP00000299543:p.Ala955Val		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.A955V	ENST00000299543.7	37	c.2864	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831711	0.71258	.	.	ENSG00000060069	ENST00000299543	T	0.58797	0.31	5.48	5.48	0.80851	FCP1-like phosphatase, C-terminal (1);	0.119056	0.53938	D	0.000041	T	0.73606	0.3608	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.73519	-0.3957	10	0.49607	T	0.09	-35.9671	19.3406	0.94339	0.0:1.0:0.0:0.0	.	955	Q9Y5B0	CTDP1_HUMAN	V	955	ENSP00000299543:A955V	ENSP00000299543:A955V	A	+	2	0	CTDP1	75614756	0.997000	0.39634	0.975000	0.42487	0.126000	0.20510	3.660000	0.54496	2.564000	0.86499	0.655000	0.94253	GCG	CTDP1	-	pfam_FCP1_C		0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	C	NM_004715		77513768	1	no_errors	ENST00000299543	ensembl	human	known	70_37	missense	SNP	0.998	T	T	77513768	C	T	77513768	3	4	131	1	0	0	0	0	1	0	0	0	4007	768	27	2	2914	2	CTDP1	18	77513768	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	12334309	77513768	563480	1742	21882										
ADNP2	22850	genome.wustl.edu	37	chr18	77896353	77896353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtgttgtgccttttaaaagAcaaaggaatgaaagcagaac	10	5	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:77896353A>G	ENST00000262198.4	+	4	3512	c.3057A>G	c.(3055-3057)agA>agG	p.R1019R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1019					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTTTAAAAGACAAAGGAATG	0.493																																																	0													48	54	52					18																	77896353		2202	4300	6502	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3057A>G	18.37:g.77896353A>G			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R1019	ENST00000262198.4	37	c.3057	CCDS32853.1	18																																																																																			ADNP2	-	NULL		0.493	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	A	NM_014913		77896353	1	no_errors	ENST00000262198	ensembl	human	known	70_37	silent	SNP	0.998	G	G	77896353	A	G	77896353	2	3	131	1	0	0	0	0	0	0	0	1	324	272	10	5		5	ADNP2	18	77896353	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	382585	77896353	180895	1743	21883										
THEG	51298	genome.wustl.edu	37	chr19	375903	375903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggggtcgccgtcctgctccCtttccgacctgcccgcagcc	12	19	0	0	rs559132137		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:375903C>A	ENST00000342640.4	-	1	110	c.68G>T	c.(67-69)aGg>aTg	p.R23M	THEG_ENST00000346878.2_Missense_Mutation_p.R23M	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	23					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTGCTCCCTTTCCGACCT	0.687																																																	0													38	39	38					19																	375903		2203	4298	6501	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.68G>T	19.37:g.375903C>A	ENSP00000340088:p.Arg23Met		A6NMJ8	Missense_Mutation	SNP	smart_THEG	p.R23M	ENST00000342640.4	37	c.68	CCDS12025.1	19	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100985	0.20552	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.25414	1.94;1.8	3.4	-6.18	0.02085	.	3.821300	0.00447	N	0.000089	T	0.13329	0.0323	N	0.19112	0.55	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.11329	0.006;0.006	T	0.15492	-1.0435	10	0.72032	D	0.01	-26.079	0.4298	0.00469	0.2626:0.281:0.1298:0.3266	.	23;23	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	M	23	ENSP00000340088:R23M;ENSP00000264820:R23M	ENSP00000340088:R23M	R	-	2	0	THEG	326903	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.884000	0.00713	-1.185000	0.02716	-0.263000	0.10527	AGG	THEG	-	NULL		0.687	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	C			375903	-1	no_errors	ENST00000342640	ensembl	human	known	70_37	missense	SNP	0.000	A	A	375903	C	A	375903	3	1	131	1	0	0	0	0	1	0	0	0	15887	681	24	4	1103	4	THEG	19	375903	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		375903	58753080	1744	21884										
APC2	10297	genome.wustl.edu	37	chr19	1462028	1462028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacacagcacagagaacaagGcggccatctgccaggtggat	12	12	1	1	rs373536854		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:1462028G>A	ENST00000535453.1	+	13	3418	c.1705G>A	c.(1705-1707)Gcg>Acg	p.A569T	APC2_ENST00000233607.2_Missense_Mutation_p.A569T|APC2_ENST00000238483.4_Missense_Mutation_p.A295T|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAACAAGGCGGCCATCTG	0.657																																																	0								G	THR/ALA	0,4406		0,0,2203	61	52	55		1705	4.6	1	19		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	APC2	NM_005883.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	569/2304	1462028	1,13005	2203	4300	6503	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1705G>A	19.37:g.1462028G>A	ENSP00000442954:p.Ala569Thr		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.A569T	ENST00000535453.1	37	c.1705	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.134939	0.94517	0.0	1.16E-4	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.64438	-0.1;0.78;-0.1	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.069490	0.64402	D	0.000019	T	0.71609	0.3360	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.63283	0.913;0.821	T	0.75416	-0.3325	10	0.72032	D	0.01	-34.4913	15.9544	0.79871	0.0:0.0:1.0:0.0	.	568;569	O95996-3;O95996	.;APC2_HUMAN	T	569;295;569	ENSP00000233607:A569T;ENSP00000238483:A295T;ENSP00000442954:A569T	ENSP00000233607:A569T	A	+	1	0	APC2	1413028	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.225000	0.95219	2.093000	0.63338	0.561000	0.74099	GCG	APC2	-	superfamily_ARM-type_fold,smart_Armadillo		0.657	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	G	NM_005883		1462028	1	no_errors	ENST00000233607	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1462028	G	A	1462028	3	1	131	1	0	0	0	0	1	0	0	0	764	1203	42	4	1755	4	APC2	19	1462028	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1086125	1462028	57666955	1745	21885										
REEP6	92840	genome.wustl.edu	37	chr19	1496287	1496287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgccccgccctgcagtgcGccttcctgttgttctgcatg	10	17	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:1496287G>A	ENST00000233596.3	+	4	456	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	118					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGTGCGCCTTCCTGTT	0.672																																																	0													70	56	61					19																	1496287		2202	4299	6501	SO:0001583	missense	92840			BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.352G>A	19.37:g.1496287G>A	ENSP00000233596:p.Ala118Thr		B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.A118T	ENST00000233596.3	37	c.352	CCDS12070.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.24|12.24	1.878099|1.878099	0.33162|0.33162	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	T|.	0.42131|.	0.98|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|T	0.58680|0.58680	0.2139|0.2139	M|M	0.78344|0.78344	2.41|2.41	0.22305|0.22305	N|N	0.999213|0.999213	D|.	0.57257|.	0.979|.	P|.	0.55965|.	0.788|.	T|T	0.56739|0.56739	-0.7929|-0.7929	9|6	0.46703|0.66056	T|D	0.11|0.02	-9.4907|-9.4907	8.3875|8.3875	0.32510|0.32510	0.0:0.1455:0.5692:0.2853|0.0:0.1455:0.5692:0.2853	.|.	118|.	Q96HR9|.	REEP6_HUMAN|.	T|H	118|185	ENSP00000233596:A118T|.	ENSP00000233596:A118T|ENSP00000378865:R185H	A|R	+|+	1|2	0|0	REEP6|REEP6	1447287|1447287	0.516000|0.516000	0.26218|0.26218	1.000000|1.000000	0.80357|0.80357	0.118000|0.118000	0.20060|0.20060	-0.018000|-0.018000	0.12568|0.12568	2.318000|2.318000	0.78349|0.78349	0.552000|0.552000	0.68991|0.68991	GCC|CGC	REEP6	-	pfam_TB2_DP1_HVA22		0.672	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP6	HGNC	protein_coding	OTTHUMT00000449623.1	G	NM_138393		1496287	1	no_errors	ENST00000233596	ensembl	human	known	70_37	missense	SNP	0.969	A	A	1496287	G	A	1496287	3	1	131	1	0	0	0	0	1	0	0	0	13239	1087	38	2	366	2	REEP6	19	1496287	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	34259	1496287	57632696	1746	21886										
ZNF77	58492	genome.wustl.edu	37	chr19	2934814	2934814	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagtctccccagctgacttCtgttcaaaatgggaagcaag	10	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:2934814C>T	ENST00000314531.4	-	4	404		c.e4-1			NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGACTTCTGTTCAAAAT	0.383																																																	0													76	74	75					19																	2934814		2203	4299	6502	SO:0001630	splice_region_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.312-1G>A	19.37:g.2934814C>T			Q86XJ3|Q9NPP0	Splice_Site	SNP	-	e4-1	ENST00000314531.4	37	c.312-1	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750192	0.49257	.	.	ENSG00000175691	ENST00000314531	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2924	0.49258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF77	2885814	0.736000	0.28164	0.672000	0.29872	0.414000	0.31173	2.617000	0.46385	1.570000	0.49709	0.491000	0.48974	.	ZNF77	-	-		0.383	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	C	NM_021217	Intron	2934814	-1	no_errors	ENST00000314531	ensembl	human	known	70_37	splice_site	SNP	0.856	T	T	2934814	C	T	2934814	5	4	131	1	0	0	0	0	0	0	1	0	18172	927	32	1	1330	1	ZNF77	19	2934814	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1438527	2934814	56194169	1747	21887										
TJP3	27134	genome.wustl.edu	37	chr19	3747907	3747907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctacgagacggacggcgaggGcggcgcgtacacggatggcg	19	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:3747907G>A	ENST00000541714.2	+	19	2900	c.2438G>A	c.(2437-2439)gGc>gAc	p.G813D	TJP3_ENST00000587686.1_Missense_Mutation_p.G832D|TJP3_ENST00000539908.2_Missense_Mutation_p.G777D|TJP3_ENST00000382008.3_Missense_Mutation_p.G827D|TJP3_ENST00000262968.9_Missense_Mutation_p.G846D|TJP3_ENST00000589378.1_Missense_Mutation_p.G822D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	813					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGGCGAGGGCGGCGCGTAC	0.692																																																	0													36	32	33					19																	3747907		2202	4299	6501	SO:0001583	missense	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2438G>A	19.37:g.3747907G>A	ENSP00000439278:p.Gly813Asp		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens	p.G846D	ENST00000541714.2	37	c.2537	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328881	0.41197	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10288	2.89;3.05;2.9;2.97	3.35	3.35	0.38373	.	0.211787	0.40818	N	0.001011	T	0.19846	0.0477	M	0.79258	2.445	0.53005	D	0.999964	P;P;P;P	0.44816	0.844;0.844;0.759;0.844	P;P;B;P	0.46275	0.51;0.51;0.312;0.51	T	0.03221	-1.1059	10	0.87932	D	0	.	11.4357	0.50066	0.0:0.1838:0.8162:0.0	.	832;846;827;813	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	D	813;777;827;846	ENSP00000439278:G813D;ENSP00000439991:G777D;ENSP00000371438:G827D;ENSP00000262968:G846D	ENSP00000262968:G846D	G	+	2	0	TJP3	3698907	1.000000	0.71417	0.981000	0.43875	0.013000	0.08279	4.861000	0.62969	1.410000	0.46936	0.511000	0.50034	GGC	TJP3	-	NULL		0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1	G			3747907	1	no_errors	ENST00000262968	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3747907	G	A	3747907	3	1	131	1	0	0	0	0	1	0	0	0	15961	1203	42	4	2607	4	TJP3	19	3747907	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	813093	3747907	55381076	1748	21888										
CHAF1A	10036	genome.wustl.edu	37	chr19	4405955	4405955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttccagttaagaagttaatAcaaggtaattatttggaaat	7	3	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:4405955A>G	ENST00000301280.5	+	2	200	c.99A>G	c.(97-99)atA>atG	p.I33M		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	33	Binds to CBX1 chromo shadow domain.|Binds to PCNA.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGTTAATACAAGGTAATT	0.378								Chromatin Structure																																									0													128	130	130					19																	4405955		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.99A>G	19.37:g.4405955A>G	ENSP00000301280:p.Ile33Met		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.I33M	ENST00000301280.5	37	c.99	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429310	0.43122	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.56941	0.43	5.22	5.22	0.72569	.	.	.	.	.	T	0.54029	0.1833	L	0.57536	1.79	0.31113	N	0.709738	P	0.48911	0.917	P	0.49226	0.603	T	0.64228	-0.6457	9	0.87932	D	0	-15.2444	5.8447	0.18659	0.7442:0.1695:0.0863:0.0	.	33	Q13111	CAF1A_HUMAN	M	33	ENSP00000301280:I33M	ENSP00000301280:I33M	I	+	3	3	CHAF1A	4356955	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.328000	0.19681	2.092000	0.63282	0.459000	0.35465	ATA	CHAF1A	-	NULL		0.378	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	A	NM_005483		4405955	1	no_errors	ENST00000301280	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4405955	A	G	4405955	3	3	131	1	0	0	0	0	1	0	0	0	3316	381	14	5	105	5	CHAF1A	19	4405955	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	658048	4405955	54723028	1749	21889										
ACSBG2	81616	genome.wustl.edu	37	chr19	6156561	6156561	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagttacagaaaatcctttCggtaaacccctacccagcac	5	14	0	1	rs375355306		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:6156561C>T	ENST00000586696.1	+	5	782	c.506C>T	c.(505-507)tCg>tTg	p.S169L	ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Splice_Site_p.S169L|ACSBG2_ENST00000588304.1_Splice_Site_p.S119L|ACSBG2_ENST00000591403.1_Splice_Site_p.S169L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	169					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S169L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAATCCTTTCGGTAAACCCC	0.463													C|||	1	0.000199681	0	0	5008	,	,		18017	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	central_nervous_system(1)						C	LEU/SER	0,4406		0,0,2203	124	116	119		506	0.9	1	19		119	2,8598	2.2+/-6.3	0,2,4298	no	missense-near-splice	ACSBG2	NM_030924.3	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	169/667	6156561	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.507+1C>T	19.37:g.6156561C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S169L	ENST00000586696.1	37	c.506	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676284	0.47886	0.0	2.33E-4	ENSG00000130377	ENST00000252669	T	0.42900	0.96	5.76	0.898	0.19264	AMP-dependent synthetase/ligase (1);	0.494033	0.15292	N	0.270093	T	0.41604	0.1166	M	0.77103	2.36	0.46654	D	0.999146	B;B	0.24920	0.114;0.105	B;B	0.30572	0.117;0.035	T	0.34104	-0.9842	10	0.51188	T	0.08	-8.0429	5.0179	0.14347	0.4221:0.4084:0.0:0.1695	.	169;169	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	L	169	ENSP00000252669:S169L	ENSP00000252669:S169L	S	+	2	0	ACSBG2	6107561	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	3.171000	0.50824	0.340000	0.23745	-0.266000	0.10368	TCG	ACSBG2	-	pfam_AMP-dep_Synth/Lig		0.463	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	C	NM_030924	Missense_Mutation	6156561	1	no_errors	ENST00000252669	ensembl	human	known	70_37	missense	SNP	0.990	T	T	6156561	C	T	6156561	5	4	131	1	0	0	0	0	0	0	1	0	174	898	31	1	520	1	ACSBG2	19	6156561	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1750606	6156561	52972422	1750	21890										
INSR	3643	genome.wustl.edu	37	chr19	7128913	7128913	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcacaacactgaagagaaaGacaaagatgagggggccgat	12	7	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:7128913G>T	ENST00000302850.5	-	15	3037	c.2895C>A	c.(2893-2895)gtC>gtA	p.V965V	INSR_ENST00000341500.5_Silent_p.V953V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	965					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGAAGAGAAAGACAAAGATGA	0.393																																																	0													76	83	81					19																	7128913		2203	4300	6503	SO:0001819	synonymous_variant	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2895C>A	19.37:g.7128913G>T			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V965	ENST00000302850.5	37	c.2895	CCDS12176.1	19																																																																																			INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt		0.393	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	G			7128913	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7128913	G	T	7128913	2	4	131	1	0	0	0	0	0	0	0	1	7793	929	33	3		3	INSR	19	7128913	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	972352	7128913	52000070	1751	21891										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8670176	8670176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtggcgagaaggccagcagTgccccgttgtggtccacgcg	17	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:8670176T>C	ENST00000597188.1	-	4	426	c.156A>G	c.(154-156)gcA>gcG	p.A52A	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.A52A	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	52						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGCCAGCAGTGCCCCGTTGT	0.687																																																	0													27	23	24					19																	8670176		2203	4299	6502	SO:0001819	synonymous_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.156A>G	19.37:g.8670176T>C			M0QZE4	Silent	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A52	ENST00000597188.1	37	c.156	CCDS12206.1	19																																																																																			ADAMTS10	-	pfam_Peptidase_M12B_N		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	T	NM_030957		8670176	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	silent	SNP	0.628	C	C	8670176	T	C	8670176	2	2	131	1	0	0	0	0	0	0	0	1	256	1683	59	5		5	ADAMTS10	19	8670176	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1541263	8670176	50458807	1752	21892										
MUC16	94025	genome.wustl.edu	37	chr19	9064235	9064235	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaagatgaactggttccaggTtctgtgcttgtacccaagat	11	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9064235T>A	ENST00000397910.4	-	3	23414	c.23211A>T	c.(23209-23211)gaA>gaT	p.E7737D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7739	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTCCAGGTTCTGTGCTTG	0.517																																																	0													199	183	189					19																	9064235		2025	4187	6212	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23211A>T	19.37:g.9064235T>A	ENSP00000381008:p.Glu7737Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E7737D	ENST00000397910.4	37	c.23211	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	5.735	0.320036	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.31510	1.49	2.33	-1.7	0.08159	.	.	.	.	.	T	0.16599	0.0399	L	0.27053	0.805	.	.	.	B	0.14438	0.01	B	0.17979	0.02	T	0.31420	-0.9944	8	0.87932	D	0	.	0.2922	0.00260	0.2236:0.1506:0.2283:0.3975	.	7737	B5ME49	.	D	7737	ENSP00000381008:E7737D	ENSP00000381008:E7737D	E	-	3	2	MUC16	8925235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.843000	0.04350	-0.536000	0.06298	-1.273000	0.01405	GAA	MUC16	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	T	NM_024690		9064235	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9064235	T	A	9064235	3	1	131	1	0	0	0	0	1	0	0	0	9996	1722	60	5	20640	5	MUC16	19	9064235	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	394059	9064235	50064748	1753	21893										
MUC16	94025	genome.wustl.edu	37	chr19	9070320	9070320	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatgcatggaagcatgcatgGcttctgtgtgcgcagtgtct	13	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9070320G>T	ENST00000397910.4	-	3	17329	c.17126C>A	c.(17125-17127)gCc>gAc	p.A5709D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5711	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATGCATGGCTTCTGTGTG	0.512																																																	0													169	163	165					19																	9070320		2099	4216	6315	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17126C>A	19.37:g.9070320G>T	ENSP00000381008:p.Ala5709Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A5709D	ENST00000397910.4	37	c.17126	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.563	-0.844293	0.02671	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	1.54	-3.09	0.05331	.	.	.	.	.	T	0.10121	0.0248	N	0.19112	0.55	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.26985	-1.0087	8	0.87932	D	0	.	0.7916	0.01058	0.1509:0.1894:0.2779:0.3817	.	5709	B5ME49	.	D	5709	ENSP00000381008:A5709D	ENSP00000381008:A5709D	A	-	2	0	MUC16	8931320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.540000	0.00937	-1.850000	0.01169	-2.151000	0.00333	GCC	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9070320	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9070320	G	T	9070320	3	4	131	1	0	0	0	0	1	0	0	0	9996	1203	42	4	26725	4	MUC16	19	9070320	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	6085	9070320	50058663	1754	21894										
OR7G3	390883	genome.wustl.edu	37	chr19	9237587	9237587	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcccctgacaatcccaagaGaaagaattctggagtgtctg	9	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9237587G>T	ENST00000305444.2	-	1	39	c.40C>A	c.(40-42)Ctc>Atc	p.L14I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATCCCAAGAGAAAGAATTCT	0.448																																																	0													62	65	64					19																	9237587		2203	4299	6502	SO:0001583	missense	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.40C>A	19.37:g.9237587G>T	ENSP00000302867:p.Leu14Ile		Q6IFJ6|Q96R99	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14I	ENST00000305444.2	37	c.40	CCDS32899.1	19	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069617	0.55539	.	.	ENSG00000170920	ENST00000305444	T	0.00561	6.59	4.16	4.16	0.48862	.	0.000000	0.37761	U	0.001955	T	0.02267	0.0070	M	0.82132	2.575	0.24603	N	0.993761	D	0.76494	0.999	D	0.70716	0.97	T	0.10894	-1.0610	10	0.87932	D	0	.	15.6367	0.76961	0.0:0.0:1.0:0.0	.	14	Q8NG95	OR7G3_HUMAN	I	14	ENSP00000302867:L14I	ENSP00000302867:L14I	L	-	1	0	OR7G3	9098587	0.330000	0.24705	0.115000	0.21578	0.003000	0.03518	1.112000	0.31172	2.338000	0.79540	0.558000	0.71614	CTC	OR7G3	-	NULL		0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G3	HGNC	protein_coding	OTTHUMT00000384611.1	G			9237587	-1	no_errors	ENST00000305444	ensembl	human	known	70_37	missense	SNP	0.735	T	T	9237587	G	T	9237587	3	4	131	1	0	0	0	0	1	0	0	0	11248	942	33	3	901	3	OR7G3	19	9237587	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	167267	9237587	49891396	1755	21895										
OR7D2	162998	genome.wustl.edu	37	chr19	9296840	9296840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccggtttgtggctgtctgccAccctctgcactatatgatca	9	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9296840A>C	ENST00000344248.2	+	1	562	c.383A>C	c.(382-384)cAc>cCc	p.H128P		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	128					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCTGTCTGCCACCCTCTGCAC	0.502																																																	0													166	155	159					19																	9296840		2203	4300	6503	SO:0001583	missense	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.383A>C	19.37:g.9296840A>C	ENSP00000345563:p.His128Pro		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H128P	ENST00000344248.2	37	c.383	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367961	0.42003	.	.	ENSG00000188000	ENST00000344248	T	0.00388	7.59	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000763	T	0.00845	0.0028	M	0.93978	3.48	0.24770	N	0.992873	P	0.50156	0.932	P	0.55391	0.775	T	0.24083	-1.0170	10	0.87932	D	0	.	5.762	0.18205	0.7611:0.0:0.0:0.2389	.	128	Q96RA2	OR7D2_HUMAN	P	128	ENSP00000345563:H128P	ENSP00000345563:H128P	H	+	2	0	OR7D2	9157840	0.002000	0.14202	0.997000	0.53966	0.545000	0.35147	1.772000	0.38552	1.296000	0.44742	0.418000	0.28097	CAC	OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.502	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	A			9296840	1	no_errors	ENST00000344248	ensembl	human	known	70_37	missense	SNP	0.996	C	C	9296840	A	C	9296840	3	2	131	1	0	0	0	0	1	0	0	0	11243	159	6	5	385	5	OR7D2	19	9296840	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	59253	9296840	49832143	1756	21896										
ZNF699	374879	genome.wustl.edu	37	chr19	9406915	9406915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccttacatttatagggttTctctccagtatgtgtcctcc	6	11	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9406915T>C	ENST00000591998.1	-	6	1393	c.1165A>G	c.(1165-1167)Aaa>Gaa	p.K389E	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.K389E			Q32M78	ZN699_HUMAN	zinc finger protein 699	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATAGGGTTTCTCTCCAGTA	0.428																																																	0													78	84	82					19																	9406915		2199	4299	6498	SO:0001583	missense	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1165A>G	19.37:g.9406915T>C	ENSP00000467723:p.Lys389Glu		Q8N9A1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K389E	ENST00000591998.1	37	c.1165	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	t	17.93	3.508252	0.64410	.	.	ENSG00000196110	ENST00000308650	T	0.27104	1.69	3.28	3.28	0.37604	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185798	0.26457	N	0.024277	T	0.37945	0.1022	M	0.76838	2.35	0.25972	N	0.982485	P	0.49559	0.925	P	0.50162	0.633	T	0.28299	-1.0048	10	0.72032	D	0.01	.	10.2416	0.43316	0.0:0.0:0.0:1.0	.	389	Q32M78	ZN699_HUMAN	E	389	ENSP00000311596:K389E	ENSP00000311596:K389E	K	-	1	0	ZNF699	9267915	0.968000	0.33430	0.987000	0.45799	0.962000	0.63368	1.935000	0.40173	1.748000	0.51833	0.449000	0.29647	AAA	ZNF699	-	pfscan_Znf_C2H2		0.428	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	T	NM_198535		9406915	-1	no_errors	ENST00000308650	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9406915	T	C	9406915	3	2	131	1	0	0	0	0	1	0	0	0	18131	1792	62	5	767	5	ZNF699	19	9406915	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	110075	9406915	49722068	1757	21897										
ZNF560	147741	genome.wustl.edu	37	chr19	9577552	9577552	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catggaatttcgaaaggaatTtccacatgcgttacattcag	8	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9577552T>G	ENST00000301480.4	-	10	2284	c.2071A>C	c.(2071-2073)Aat>Cat	p.N691H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	691					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CGAAAGGAATTTCCACATGCG	0.378																																																	0													131	133	132					19																	9577552		2203	4300	6503	SO:0001583	missense	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2071A>C	19.37:g.9577552T>G	ENSP00000301480:p.Asn691His		Q495S9|Q495T1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N691H	ENST00000301480.4	37	c.2071	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	T	9.256	1.041903	0.19748	.	.	ENSG00000198028	ENST00000301480	T	0.15139	2.45	1.69	1.69	0.24217	.	.	.	.	.	T	0.10208	0.0250	N	0.17082	0.46	0.20764	N	0.999851	B	0.26876	0.162	B	0.24541	0.054	T	0.26360	-1.0105	9	0.87932	D	0	.	7.3583	0.26731	0.0:0.0:0.0:1.0	.	691	Q96MR9	ZN560_HUMAN	H	691	ENSP00000301480:N691H	ENSP00000301480:N691H	N	-	1	0	ZNF560	9438552	0.983000	0.35010	0.003000	0.11579	0.015000	0.08874	3.334000	0.52097	1.019000	0.39547	0.379000	0.24179	AAT	ZNF560	-	NULL		0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	T	NM_152476		9577552	-1	no_errors	ENST00000301480	ensembl	human	known	70_37	missense	SNP	0.910	G	G	9577552	T	G	9577552	3	3	131	1	0	0	0	0	1	0	0	0	18021	1841	64	5	305	5	ZNF560	19	9577552	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	170637	9577552	49551431	1758	21898										
ZNF121	7675	genome.wustl.edu	37	chr19	9676775	9676775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattccttacatatatacggTttctctccagtgtgagttct	6	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9676775T>G	ENST00000586602.1	-	6	1430	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	ZNF121_ENST00000320451.6_Missense_Mutation_p.K338N			P58317	ZN121_HUMAN	zinc finger protein 121	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						ATATATACGGTTTCTCTCCAG	0.403																																																	0													102	93	96					19																	9676775		2203	4300	6503	SO:0001583	missense	7675			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"Zinc fingers, C2H2-type"	12904	protein-coding gene	gene with protein product		194628	"zinc finger protein 121 (clone ZHC32)"	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.1014A>C	19.37:g.9676775T>G	ENSP00000468643:p.Lys338Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K338N	ENST00000586602.1	37	c.1014		19	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611161	0.66558	.	.	ENSG00000197961	ENST00000320451	T	0.26067	1.76	1.27	0.177	0.15054	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43033	0.1229	M	0.71036	2.16	0.25599	N	0.986612	D	0.89917	1.0	D	0.87578	0.998	T	0.20306	-1.0279	9	0.72032	D	0.01	.	4.5473	0.12087	0.0:0.2092:0.0:0.7908	.	338	P58317	ZN121_HUMAN	N	338	ENSP00000326967:K338N	ENSP00000326967:K338N	K	-	3	2	ZNF121	9537775	0.001000	0.12720	0.473000	0.27253	0.921000	0.55340	-1.010000	0.03656	0.007000	0.14760	0.397000	0.26171	AAA	ZNF121	-	pfscan_Znf_C2H2		0.403	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	ZNF121	HGNC	protein_coding	OTTHUMT00000449910.1	T	NM_001008727		9676775	-1	no_errors	ENST00000320451	ensembl	human	known	70_37	missense	SNP	0.998	G	G	9676775	T	G	9676775	3	3	131	1	0	0	0	0	1	0	0	0	17749	1722	60	5	162	5	ZNF121	19	9676775	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	99223	9676775	49452208	1759	21899										
ZNF561	93134	genome.wustl.edu	37	chr19	9721199	9721199	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aattcttgtatgctgaataaGacttgtggatgtagtgaagg	12	3	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9721199G>T	ENST00000302851.3	-	6	1501	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I	ZNF561_ENST00000354661.4_Missense_Mutation_p.L244I|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.L311I|ZNF561_ENST00000495503.1_5'Flank	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TGCTGAATAAGACTTGTGGAT	0.418																																																	0													117	110	113					19																	9721199		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1138C>A	19.37:g.9721199G>T	ENSP00000303915:p.Leu380Ile		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L380I	ENST00000302851.3	37	c.1138	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923088	0.33908	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.53857	0.6;0.6;0.6	1.1	-0.0107	0.13995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62134	0.2403	M	0.83118	2.625	0.09310	N	1	P	0.40970	0.734	P	0.50754	0.649	T	0.55903	-0.8067	9	0.72032	D	0.01	.	5.358	0.16071	0.2227:0.0:0.7773:0.0	.	380	Q8N587	ZN561_HUMAN	I	311;380;244	ENSP00000393074:L311I;ENSP00000303915:L380I;ENSP00000346687:L244I	ENSP00000303915:L380I	L	-	1	0	ZNF561	9582199	.	.	0.002000	0.10522	0.131000	0.20780	.	.	0.040000	0.15660	0.298000	0.19748	CTT	ZNF561	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	G	NM_152289		9721199	-1	no_errors	ENST00000302851	ensembl	human	known	70_37	missense	SNP	0.005	T	T	9721199	G	T	9721199	3	4	131	1	0	0	0	0	1	0	0	0	18022	942	33	3	326	3	ZNF561	19	9721199	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	44424	9721199	49407784	1760	21900										
DNMT1	1786	genome.wustl.edu	37	chr19	10265036	10265036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctgtcatccttttcaattTgctctgcgaagaaagtatcg	7	10	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10265036T>G	ENST00000340748.4	-	21	2139	c.1904A>C	c.(1903-1905)cAa>cCa	p.Q635P	DNMT1_ENST00000359526.4_Missense_Mutation_p.Q651P|DNMT1_ENST00000540357.1_Missense_Mutation_p.Q635P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	635					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTTTCAATTTGCTCTGCGAA	0.547																																																	0													162	165	164					19																	10265036		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1904A>C	19.37:g.10265036T>G	ENSP00000345739:p.Gln635Pro		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.Q651P	ENST00000340748.4	37	c.1952	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736269	0.89482	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.30182	1.71;1.54;1.54	6.07	6.07	0.98685	.	0.110094	0.64402	D	0.000006	T	0.53367	0.1792	M	0.73217	2.22	0.58432	D	0.999995	D;D;D	0.62365	0.991;0.991;0.985	D;D;P	0.63283	0.913;0.913;0.821	T	0.55211	-0.8176	10	0.62326	D	0.03	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	635;651;635	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	P	651;635;635;503	ENSP00000352516:Q651P;ENSP00000440457:Q635P;ENSP00000345739:Q635P	ENSP00000345739:Q635P	Q	-	2	0	DNMT1	10126036	1.000000	0.71417	0.876000	0.34364	0.694000	0.40290	7.982000	0.88131	2.326000	0.78906	0.533000	0.62120	CAA	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk		0.547	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	T	NM_001379		10265036	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10265036	T	G	10265036	3	3	131	1	0	0	0	0	1	0	0	0	4685	1812	63	5	3026	5	DNMT1	19	10265036	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	543837	10265036	48863947	1761	21901										
ICAM4	3386	genome.wustl.edu	37	chr19	10398021	10398021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggcctggagctccctcgcGcactgcctcgtgacctgcgc	13	17	0	1	rs375921978		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10398021G>A	ENST00000380770.3	+	1	379	c.333G>A	c.(331-333)gcG>gcA	p.A111A	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.A111A|ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000340992.4_Silent_p.A111A|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	111	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTCCCTCGCGCACTGCCTCG	0.677																																																	0													19	20	20					19																	10398021		2203	4300	6503	SO:0001819	synonymous_variant	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.333G>A	19.37:g.10398021G>A			A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Silent	SNP	pfam_ICAM_N	p.A111	ENST00000380770.3	37	c.333	CCDS12232.1	19																																																																																			ICAM4	-	pfam_ICAM_N		0.677	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICAM4	HGNC	protein_coding	OTTHUMT00000451214.1	G	NM_001544		10398021	1	no_errors	ENST00000340992	ensembl	human	known	70_37	silent	SNP	0.001	A	A	10398021	G	A	10398021	2	1	131	1	0	0	0	0	0	0	0	1	7502	1074	38	2		2	ICAM4	19	10398021	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	132985	10398021	48730962	1762	21902										
ICAM3	3385	genome.wustl.edu	37	chr19	10445073	10445073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggggcatgtggctcggtcaaTtttgggaccatctgtggaac	15	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10445073T>G	ENST00000160262.5	-	6	1412	c.1204A>C	c.(1204-1206)Att>Ctt	p.I402L	ICAM3_ENST00000589261.1_Missense_Mutation_p.I325L|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	402					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCGGTCAATTTTGGGACCA	0.577																																																	0													82	83	83					19																	10445073		2203	4300	6503	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1204A>C	19.37:g.10445073T>G	ENSP00000160262:p.Ile402Leu		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.I402L	ENST00000160262.5	37	c.1204	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	T	5.713	0.316079	0.10789	.	.	ENSG00000076662	ENST00000160262	T	0.15256	2.44	4.47	3.37	0.38596	Immunoglobulin-like fold (1);	0.363273	0.24818	N	0.035347	T	0.07638	0.0192	N	0.16233	0.39	0.19775	N	0.999959	B	0.22146	0.065	B	0.20577	0.03	T	0.38243	-0.9670	10	0.02654	T	1	-12.8341	7.6083	0.28115	0.0:0.0:0.2171:0.7829	.	402	P32942	ICAM3_HUMAN	L	402	ENSP00000160262:I402L	ENSP00000160262:I402L	I	-	1	0	ICAM3	10306073	0.703000	0.27826	0.982000	0.44146	0.907000	0.53573	0.799000	0.27028	2.003000	0.58678	0.459000	0.35465	ATT	ICAM3	-	NULL		0.577	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	T			10445073	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	missense	SNP	0.784	G	G	10445073	T	G	10445073	3	3	131	1	0	0	0	0	1	0	0	0	7501	1493	52	5	447	5	ICAM3	19	10445073	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	47052	10445073	48683910	1763	21903										
ZNF763	284390	genome.wustl.edu	37	chr19	12089292	12089292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaaacctttatttcccatTcaggcattcgaagacgcatg	7	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12089292T>C	ENST00000358987.3	+	4	680	c.553T>C	c.(553-555)Tca>Cca	p.S185P	ZNF763_ENST00000343949.5_Missense_Mutation_p.S188P|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205P|ZNF763_ENST00000545530.1_Missense_Mutation_p.S63P|ZNF763_ENST00000590798.1_Missense_Mutation_p.S205P			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TATTTCCCATTCAGGCATTCG	0.413																																																	0													116	119	118					19																	12089292		2202	4300	6502	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.553T>C	19.37:g.12089292T>C	ENSP00000402017:p.Ser185Pro		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S205P	ENST00000358987.3	37	c.613		19	.	.	.	.	.	.	.	.	.	.	t	6.430	0.447548	0.12223	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	1.4	-0.116	0.13555	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26195	0.0639	L	0.42008	1.315	0.09310	N	1	B;B;D	0.58268	0.002;0.006;0.982	B;B;P	0.56960	0.006;0.006;0.81	T	0.14476	-1.0471	9	0.56958	D	0.05	.	4.5971	0.12334	0.3329:0.0:0.0:0.6671	.	205;185;188	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	P	205;188;63;185	ENSP00000438117:S205P;ENSP00000369774:S188P;ENSP00000446166:S63P;ENSP00000402017:S185P	ENSP00000369774:S188P	S	+	1	0	ZNF763	11950292	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.864000	0.04254	-0.717000	0.04955	0.164000	0.16699	TCA	ZNF763	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1	T	NM_001012753		12089292	1	no_errors	ENST00000538752	ensembl	human	known	70_37	missense	SNP	0.000	C	C	12089292	T	C	12089292	3	2	131	1	0	0	0	0	1	0	0	0	18167	1783	62	5	576	5	ZNF763	19	12089292	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1644219	12089292	47039691	1764	21904										
ZNF433	163059	genome.wustl.edu	37	chr19	12125837	12125837	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcttacatttatacggtttCtctccagtgtgagtccttcc	7	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12125837C>A	ENST00000344980.6	-	4	2015	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D	ZNF433_ENST00000419886.2_Missense_Mutation_p.E580D|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TATACGGTTTCTCTCCAGTGT	0.458																																																	0													87	92	91					19																	12125837		2201	4300	6501	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1845G>T	19.37:g.12125837C>A	ENSP00000339767:p.Glu615Asp		Q86VX3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E615D	ENST00000344980.6	37	c.1845	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844475	0.71488	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.26810	1.71;1.71	1.41	0.174	0.15040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22742	0.0549	L	0.33792	1.035	0.22880	N	0.998617	P	0.38455	0.632	B	0.43867	0.434	T	0.22243	-1.0222	9	0.72032	D	0.01	.	7.6561	0.28375	0.255:0.745:0.0:0.0	.	615	Q8N7K0	ZN433_HUMAN	D	580;615	ENSP00000393416:E580D;ENSP00000339767:E615D	ENSP00000339767:E615D	E	-	3	2	ZNF433	11986837	0.002000	0.14202	0.060000	0.19600	0.965000	0.64279	-0.109000	0.10840	0.093000	0.17368	0.305000	0.20034	GAG	ZNF433	-	pfscan_Znf_C2H2		0.458	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12125837	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12125837	C	A	12125837	3	1	131	1	0	0	0	0	1	0	0	0	17937	912	32	3	180	3	ZNF433	19	12125837	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	36545	12125837	47003146	1765	21905										
ZNF443	10224	genome.wustl.edu	37	chr19	12542059	12542059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcccacattgtttacatgtAtagggtttctctccagtgtg	8	9	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12542059A>G	ENST00000301547.5	-	4	1124	c.927T>C	c.(925-927)taT>taC	p.Y309Y	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	309					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTTTACATGTATAGGGTTTCT	0.428																																																	0													119	118	118					19																	12542059		2203	4298	6501	SO:0001819	synonymous_variant	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.927T>C	19.37:g.12542059A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y309	ENST00000301547.5	37	c.927	CCDS32918.1	19																																																																																			ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	A	NM_005815		12542059	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	silent	SNP	0.058	G	G	12542059	A	G	12542059	2	3	131	1	0	0	0	0	0	0	0	1	17946	456	16	5		5	ZNF443	19	12542059	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	416222	12542059	46586924	1766	21906										
BEST2	54831	genome.wustl.edu	37	chr19	12865773	12865773	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggtgccctgcgtctggttCtccaacctggcggcacaggc	14	14	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12865773C>A	ENST00000549706.1	+	5	888	c.564C>A	c.(562-564)ttC>ttA	p.F188L	BEST2_ENST00000553030.1_Missense_Mutation_p.F188L|BEST2_ENST00000042931.1_Missense_Mutation_p.F188L			Q8NFU1	BEST2_HUMAN	bestrophin 2	188					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGTCTGGTTCTCCAACCTGG	0.592																																																	0													39	47	45					19																	12865773		2161	4279	6440	SO:0001583	missense	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.564C>A	19.37:g.12865773C>A	ENSP00000448310:p.Phe188Leu		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.F188L	ENST00000549706.1	37	c.564	CCDS42506.1	19	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797047	0.70567	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98455	-4.94;-4.94;-4.94	3.53	-0.00512	0.14018	.	0.000000	0.64402	D	0.000001	D	0.98544	0.9514	M	0.87097	2.86	0.40824	D	0.983531	D	0.69078	0.997	D	0.74348	0.983	D	0.97855	1.0277	10	0.66056	D	0.02	-21.9322	8.0889	0.30788	0.0:0.5974:0.0:0.4026	.	188	Q8NFU1	BEST2_HUMAN	L	188	ENSP00000448310:F188L;ENSP00000447203:F188L;ENSP00000042931:F188L	ENSP00000042931:F188L	F	+	3	2	BEST2	12726773	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	2.577000	0.46042	0.137000	0.18759	0.313000	0.20887	TTC	BEST2	-	pfam_Bestrophin/UPF0187		0.592	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1	C	NM_017682		12865773	1	no_errors	ENST00000042931	ensembl	human	known	70_37	missense	SNP	0.987	A	A	12865773	C	A	12865773	3	1	131	1	0	0	0	0	1	0	0	0	1406	912	32	3	578	3	BEST2	19	12865773	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	323714	12865773	46263210	1767	21907										
C19orf57	79173	genome.wustl.edu	37	chr19	14000075	14000075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtccagcaggaagtcgagttCcacagctaaagagtctgccc	11	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:14000075C>T	ENST00000586783.1	-	5	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	C19orf57_ENST00000454313.1_Missense_Mutation_p.E532K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E532K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	532					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AAGTCGAGTTCCACAGCTAAA	0.602																																																	0													47	49	48					19																	14000075		2203	4300	6503	SO:0001583	missense	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1594G>A	19.37:g.14000075C>T	ENSP00000465822:p.Glu532Lys		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.E532K	ENST00000586783.1	37	c.1594		19	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958220	0.53400	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.56941	0.43;0.43	4.99	4.99	0.66335	.	0.152171	0.30732	N	0.008984	T	0.61974	0.2390	L	0.36672	1.1	0.30874	N	0.732127	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.64198	-0.6464	10	0.62326	D	0.03	-18.3245	13.6349	0.62217	0.0:1.0:0.0:0.0	.	532;532	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	532	ENSP00000404382:E532K;ENSP00000254336:E532K	ENSP00000254336:E532K	E	-	1	0	C19orf57	13861075	0.968000	0.33430	0.218000	0.23776	0.017000	0.09413	3.511000	0.53400	2.589000	0.87451	0.637000	0.83480	GAA	C19orf57	-	NULL		0.602	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	C	NM_024323		14000075	-1	no_errors	ENST00000454313	ensembl	human	known	70_37	missense	SNP	0.623	T	T	14000075	C	T	14000075	3	4	131	1	0	0	0	0	1	0	0	0	1944	864	30	1	331	1	C19orf57	19	14000075	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1134302	14000075	45128908	1768	21908										
CASP14	23581	genome.wustl.edu	37	chr19	15164574	15164574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagagctggaaaaattccagCaggccatcgattcccgggaa	11	10	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15164574C>A	ENST00000427043.3	+	4	516	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.Q70K	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	70					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						AAAATTCCAGCAGGCCATCGA	0.547																																																	0													60	57	58					19																	15164574		2203	4300	6503	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.208C>A	19.37:g.15164574C>A	ENSP00000393417:p.Gln70Lys		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q70K	ENST00000427043.3	37	c.208	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	c	14.29	2.489971	0.44249	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.19806	2.12;2.12	4.91	-0.669	0.11388	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	1.463350	0.03876	N	0.276469	T	0.16685	0.0401	N	0.24115	0.695	0.27776	N	0.943336	P	0.38827	0.649	B	0.41299	0.353	T	0.26189	-1.0110	10	0.02654	T	1	.	14.6561	0.68833	0.0:0.2803:0.7197:0.0	.	70	P31944	CASPE_HUMAN	K	70	ENSP00000393417:Q70K;ENSP00000221740:Q70K	ENSP00000221740:Q70K	Q	+	1	0	CASP14	15025574	0.023000	0.18921	0.291000	0.24904	0.782000	0.44232	-0.400000	0.07241	0.058000	0.16222	0.306000	0.20318	CAG	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.547	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	C	NM_012114		15164574	1	no_errors	ENST00000221740	ensembl	human	known	70_37	missense	SNP	0.585	A	A	15164574	C	A	15164574	3	1	131	1	0	0	0	0	1	0	0	0	2675	711	25	4	218	4	CASP14	19	15164574	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1164499	15164574	43964409	1769	21909										
RASAL3	64926	genome.wustl.edu	37	chr19	15563952	15563952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtgcgtgcccagtgcctggTttcggtcttgcggctggtcc	16	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15563952T>C	ENST00000343625.7	-	15	2721	c.2636A>G	c.(2635-2637)aAc>aGc	p.N879S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	879					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGTGCCTGGTTTCGGTCTTG	0.692																																																	0													54	56	55					19																	15563952		2043	4183	6226	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2636A>G	19.37:g.15563952T>C	ENSP00000341905:p.Asn879Ser		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.N879S	ENST00000343625.7	37	c.2636	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	T	8.303	0.820279	0.16678	.	.	ENSG00000105122	ENST00000343625	T	0.24151	1.87	4.57	4.57	0.56435	.	0.524687	0.17030	N	0.189757	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.14023	0.01;0.005	T	0.25433	-1.0132	10	0.12430	T	0.62	.	10.292	0.43601	0.0:0.0:0.0:1.0	.	879;879	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	S	879	ENSP00000341905:N879S	ENSP00000341905:N879S	N	-	2	0	RASAL3	15424952	0.006000	0.16342	0.055000	0.19348	0.006000	0.05464	1.775000	0.38584	1.687000	0.51057	0.482000	0.46254	AAC	RASAL3	-	NULL		0.692	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	T	NM_022904		15563952	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	missense	SNP	0.065	C	C	15563952	T	C	15563952	3	2	131	1	0	0	0	0	1	0	0	0	13095	1725	60	5	415	5	RASAL3	19	15563952	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	399378	15563952	43565031	1770	21910										
OR10H5	284433	genome.wustl.edu	37	chr19	15905096	15905096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaccgtggccatcatcccgCgcatgctggccgacctgctg	11	17	1	0	rs142693914		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15905096C>T	ENST00000308940.8	+	1	336	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCATCCCGCGCATGCTGGC	0.617													.|||	1	0.000199681	0	0	5008	,	,		21792	0		0.001	False		,,,				2504	0																0								C	CYS/ARG	0,4406		0,0,2203	122	100	108		238	2.3	0.8	19	dbSNP_134	108	1,8599		0,1,4299	no	missense	OR10H5	NM_001004466.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	80/316	15905096	1,13005	2203	4300	6503	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.238C>T	19.37:g.15905096C>T	ENSP00000310704:p.Arg80Cys		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R80C	ENST00000308940.8	37	c.238	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	11.79	1.744090	0.30865	0.0	1.16E-4	ENSG00000172519	ENST00000308940	T	0.01685	4.69	3.47	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.158984	0.29266	N	0.012650	T	0.03695	0.0105	M	0.87328	2.875	0.09310	N	0.999999	B	0.25667	0.131	B	0.21151	0.033	T	0.17776	-1.0358	10	0.72032	D	0.01	.	7.7827	0.29074	0.4047:0.5953:0.0:0.0	.	80	Q8NGA6	O10H5_HUMAN	C	80	ENSP00000310704:R80C	ENSP00000310704:R80C	R	+	1	0	OR10H5	15766096	0.000000	0.05858	0.807000	0.32361	0.898000	0.52572	1.227000	0.32576	1.647000	0.50633	0.585000	0.79938	CGC	OR10H5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	C			15905096	1	no_errors	ENST00000308940	ensembl	human	known	70_37	missense	SNP	0.079	T	T	15905096	C	T	15905096	3	4	131	1	0	0	0	0	1	0	0	0	10933	768	27	2	240	2	OR10H5	19	15905096	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	341144	15905096	43223887	1771	21911										
OR10H1	26539	genome.wustl.edu	37	chr19	15918816	15918816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaagccgacgaggatgaatTgggtcactgtggagtgattg	16	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15918816T>C	ENST00000334920.2	-	1	120	c.32A>G	c.(31-33)cAa>cGa	p.Q11R		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GAGGATGAATTGGGTCACTGT	0.547																																																	0													132	130	131					19																	15918816		2203	4300	6503	SO:0001583	missense	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.32A>G	19.37:g.15918816T>C	ENSP00000335596:p.Gln11Arg		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q11R	ENST00000334920.2	37	c.32	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	t	11.36	1.615580	0.28801	.	.	ENSG00000186723	ENST00000334920	T	0.01092	5.35	4.25	4.25	0.50352	.	0.135141	0.32868	N	0.005551	T	0.01189	0.0039	L	0.28400	0.85	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.45585	-0.9251	10	0.72032	D	0.01	.	7.1155	0.25414	0.2007:0.0:0.0:0.7993	.	11	Q9Y4A9	O10H1_HUMAN	R	11	ENSP00000335596:Q11R	ENSP00000335596:Q11R	Q	-	2	0	OR10H1	15779816	0.007000	0.16637	0.027000	0.17364	0.015000	0.08874	1.704000	0.37857	1.562000	0.49601	0.523000	0.50628	CAA	OR10H1	-	NULL		0.547	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	T			15918816	-1	no_errors	ENST00000334920	ensembl	human	known	70_37	missense	SNP	0.019	C	C	15918816	T	C	15918816	3	2	131	1	0	0	0	0	1	0	0	0	10929	1812	63	5	928	5	OR10H1	19	15918816	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	13720	15918816	43210167	1772	21912										
AP1M1	8907	genome.wustl.edu	37	chr19	16314297	16314297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctgccggaactaccgtggcGacgtggacatgtcagaggtg	15	10	2	1	rs200460904		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16314297G>A	ENST00000291439.3	+	2	519	c.70G>A	c.(70-72)Gac>Aac	p.D24N	AP1M1_ENST00000429941.2_Missense_Mutation_p.D24N|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.D24N|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	24					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.D24N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CTACCGTGGCGACGTGGACAT	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											97	80	86					19																	16314297		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.70G>A	19.37:g.16314297G>A	ENSP00000291439:p.Asp24Asn		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.D24N	ENST00000291439.3	37	c.70	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352558	0.82132	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.67523	0.31;0.32;-0.27	4.45	4.45	0.53987	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.73217	2.22	0.80722	D	1	B;B;B	0.33266	0.404;0.35;0.232	B;B;B	0.34301	0.179;0.127;0.127	T	0.73104	-0.4088	10	0.66056	D	0.02	-31.8085	16.0817	0.81010	0.0:0.0:1.0:0.0	.	24;24;24	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	N	24	ENSP00000388996:D24N;ENSP00000291439:D24N;ENSP00000411498:D24N	ENSP00000291439:D24N	D	+	1	0	AP1M1	16175297	1.000000	0.71417	0.927000	0.36925	0.956000	0.61745	9.520000	0.98027	2.040000	0.60383	0.561000	0.74099	GAC	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.597	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	G	NM_032493		16314297	1	no_errors	ENST00000444449	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16314297	G	A	16314297	3	1	131	1	0	0	0	0	1	0	0	0	734	1058	37	1	76	1	AP1M1	19	16314297	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	395481	16314297	42814686	1773	21913										
AP1M1	8907	genome.wustl.edu	37	chr19	16337342	16337342	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcctcaacgacaaggtcctCtttgacaacacgggccgtga	11	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16337342C>A	ENST00000291439.3	+	6	1106	c.657C>A	c.(655-657)ctC>ctA	p.L219L	AP1M1_ENST00000429941.2_Silent_p.L219L|AP1M1_ENST00000541844.1_Silent_p.L147L|AP1M1_ENST00000444449.2_Silent_p.L231L|AP1M1_ENST00000590756.1_Silent_p.L147L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	219	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACAAGGTCCTCTTTGACAACA	0.627																																																	0													51	36	41					19																	16337342		2203	4298	6501	SO:0001819	synonymous_variant	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.657C>A	19.37:g.16337342C>A			Q4TTY5	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L231	ENST00000291439.3	37	c.693	CCDS12342.1	19																																																																																			AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.627	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	C	NM_032493		16337342	1	no_errors	ENST00000444449	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16337342	C	A	16337342	2	1	131	1	0	0	0	0	0	0	0	1	734	900	32	3		3	AP1M1	19	16337342	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	23045	16337342	42791641	1774	21914										
NWD1	284434	genome.wustl.edu	37	chr19	16861134	16861134	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgctggccaccaccgcagagGaagccacgcaccaactctgc	10	18	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16861134G>T	ENST00000552788.1	+	4	1681	c.1681G>T	c.(1681-1683)Gaa>Taa	p.E561*	NWD1_ENST00000379808.3_Nonsense_Mutation_p.E561*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.E561*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.E355*|NWD1_ENST00000339803.6_Nonsense_Mutation_p.E426*|NWD1_ENST00000524140.2_Nonsense_Mutation_p.E561*			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	561	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCGCAGAGGAAGCCACGCA	0.647																																																	0													24	27	26					19																	16861134		2203	4300	6503	SO:0001587	stop_gained	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1681G>T	19.37:g.16861134G>T	ENSP00000447224:p.Glu561*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E561*	ENST00000552788.1	37	c.1681		19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548304	0.86127	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	5.04	3.91	0.45181	.	0.392976	0.26231	N	0.025570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.6592	14.603	0.68456	0.0:0.1611:0.8389:0.0	.	.	.	.	X	426;561;561;561;355;561;426	.	ENSP00000340159:E426X	E	+	1	0	NWD1	16722134	1.000000	0.71417	0.205000	0.23548	0.057000	0.15508	4.638000	0.61353	2.339000	0.79563	0.549000	0.68633	GAA	NWD1	-	NULL		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	G	NM_001007525		16861134	1	no_errors	ENST00000379808	ensembl	human	known	70_37	nonsense	SNP	0.899	T	T	16861134	G	T	16861134	4	4	131	1	0	0	0	0	0	1	0	0	10805	1175	41	3	1282	3	NWD1	19	16861134	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	523792	16861134	42267849	1775	21915										
SIN3B	23309	genome.wustl.edu	37	chr19	16977349	16977349	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagagcttgctcaacgagatCgagagcgtctacgacgaggt	13	9	2	3	rs141051908		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16977349C>T	ENST00000248054.5	+	12	1809	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	SIN3B_ENST00000379803.1_Silent_p.I628I|SIN3B_ENST00000595541.1_Silent_p.I186I					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCAACGAGATCGAGAGCGTCT	0.612																																																	0								C		0,4406		0,0,2203	124	88	100		1884	-3.4	1	19	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIN3B	NM_015260.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		628/1163	16977349	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1788C>T	19.37:g.16977349C>T				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.I628	ENST00000248054.5	37	c.1884		19																																																																																			SIN3B	-	NULL		0.612	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	C	NM_015260		16977349	1	no_errors	ENST00000379803	ensembl	human	known	70_37	silent	SNP	0.781	T	T	16977349	C	T	16977349	2	4	131	1	0	0	0	0	0	0	0	1	14356	874	31	1		1	SIN3B	19	16977349	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	116215	16977349	42151634	1776	21916										
ANO8	57719	genome.wustl.edu	37	chr19	17441687	17441687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccccaggtgagtccagcgTcccccacttatatgccagct	8	16	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:17441687T>C	ENST00000159087.4	-	8	1101	c.943A>G	c.(943-945)Acg>Gcg	p.T315A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	315					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGTCCAGCGTCCCCCACTTA	0.587																																																	0													132	126	128					19																	17441687		2203	4300	6503	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.943A>G	19.37:g.17441687T>C	ENSP00000159087:p.Thr315Ala		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.T315A	ENST00000159087.4	37	c.943	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	t	23.5	4.427350	0.83667	.	.	ENSG00000074855	ENST00000159087	T	0.66460	-0.21	4.59	4.59	0.56863	.	0.224854	0.42294	D	0.000731	T	0.80132	0.4567	M	0.77103	2.36	0.46798	D	0.999204	D	0.76494	0.999	D	0.80764	0.994	T	0.81252	-0.1017	10	0.49607	T	0.09	.	11.8981	0.52667	0.0:0.0:0.0:1.0	.	315	Q9HCE9	ANO8_HUMAN	A	315	ENSP00000159087:T315A	ENSP00000159087:T315A	T	-	1	0	ANO8	17302687	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.922000	0.87538	1.711000	0.51337	0.255000	0.18592	ACG	ANO8	-	pfam_Anoctamin		0.587	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	T	XM_050644		17441687	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17441687	T	C	17441687	3	2	131	1	0	0	0	0	1	0	0	0	703	1667	58	5	2799	5	ANO8	19	17441687	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	464338	17441687	41687296	1777	21917										
SLC27A1	376497	genome.wustl.edu	37	chr19	17599875	17599875	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgacagtcgtcctccgcaaGaaattctcggccagccgctt	9	15	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:17599875G>T	ENST00000252595.7	+	6	1042	c.945G>T	c.(943-945)aaG>aaT	p.K315N	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.K315N|SLC27A1_ENST00000598424.1_Missense_Mutation_p.K136N	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	315	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCTCCGCAAGAAATTCTCGG	0.637																																																	0													67	66	67					19																	17599875		2203	4300	6503	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.945G>T	19.37:g.17599875G>T	ENSP00000252595:p.Lys315Asn		A6NIH2|B7Z662	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K315N	ENST00000252595.7	37	c.945	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632614	0.67015	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.48201	0.82;0.82	4.25	3.12	0.35913	AMP-dependent synthetase/ligase (1);	0.283466	0.34507	N	0.003906	T	0.63117	0.2484	M	0.74881	2.28	0.58432	D	0.999995	D;D;D	0.63880	0.988;0.993;0.993	P;D;D	0.63597	0.904;0.916;0.916	T	0.67639	-0.5619	10	0.66056	D	0.02	.	11.1189	0.48277	0.0:0.1893:0.8106:0.0	.	136;315;315	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	N	315;315;177	ENSP00000413424:K315N;ENSP00000252595:K315N	ENSP00000252595:K315N	K	+	3	2	SLC27A1	17460875	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.136000	0.64783	1.915000	0.55452	0.491000	0.48974	AAG	SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.637	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	G	NM_198580		17599875	1	no_errors	ENST00000252595	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17599875	G	T	17599875	3	4	131	1	0	0	0	0	1	0	0	0	14555	933	33	3	967	3	SLC27A1	19	17599875	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	158188	17599875	41529108	1778	21918										
B3GNT3	10331	genome.wustl.edu	37	chr19	17919003	17919003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgcgagctgctgcggcgcacGtggggccgcgagcgcaaggt	19	13	0	0	rs577972524	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:17919003G>A	ENST00000318683.6	+	2	534	c.387G>A	c.(385-387)acG>acA	p.T129T	B3GNT3_ENST00000595387.1_Silent_p.T129T	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	129					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGCGGCGCACGTGGGGCCGCG	0.682																																																	0													20	23	22					19																	17919003		2197	4292	6489	SO:0001819	synonymous_variant	10331			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.387G>A	19.37:g.17919003G>A			B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	pfam_Glyco_trans_31	p.T129	ENST00000318683.6	37	c.387	CCDS12364.1	19																																																																																			B3GNT3	-	pfam_Glyco_trans_31		0.682	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	HGNC	protein_coding	OTTHUMT00000466877.1	G	NM_014256		17919003	1	no_errors	ENST00000318683	ensembl	human	known	70_37	silent	SNP	0.870	A	A	17919003	G	A	17919003	2	1	131	1	0	0	0	0	0	0	0	1	1259	1132	40	2		2	B3GNT3	19	17919003	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	319128	17919003	41209980	1779	21919										
IL12RB1	3594	genome.wustl.edu	37	chr19	18184372	18184372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcccatcctggcccagctgCtccaccgagaatctcacctg	7	19	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:18184372C>T	ENST00000600835.2	-	9	1036	c.738G>A	c.(736-738)gaG>gaA	p.E246E	IL12RB1_ENST00000322153.7_Silent_p.E246E|IL12RB1_ENST00000593993.2_Silent_p.E246E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	246	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GGCCCAGCTGCTCCACCGAGA	0.572																																																	0													44	38	40					19																	18184372		2203	4300	6503	SO:0001819	synonymous_variant	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.738G>A	19.37:g.18184372C>T			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E246	ENST00000600835.2	37	c.738	CCDS54232.1	19																																																																																			IL12RB1	-	NULL		0.572	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	C			18184372	-1	no_errors	ENST00000430026	ensembl	human	known	70_37	silent	SNP	0.002	T	T	18184372	C	T	18184372	2	4	131	1	0	0	0	0	0	0	0	1	7646	796	28	4		4	IL12RB1	19	18184372	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	265369	18184372	40944611	1780	21920										
KIAA1683	80726	genome.wustl.edu	37	chr19	18380275	18380275	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcccatagaccatcttcttaCcttgaagggtcatagatttg	8	10	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:18380275C>T	ENST00000600328.3	-	2	207		c.e2+1		KIAA1683_ENST00000600359.3_Splice_Site|KIAA1683_ENST00000392413.4_Splice_Site			Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CATCTTCTTACCTTGAAGGGT	0.527																																																	0													129	103	112					19																	18380275		2203	4300	6503	SO:0001630	splice_region_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.13+1G>A	19.37:g.18380275C>T			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Splice_Site	SNP	-	e1+1	ENST00000600328.3	37	c.13+1	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497123	0.44352	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000411671	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2775	0.37709	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1683	18241275	1.000000	0.71417	0.998000	0.56505	0.836000	0.47400	1.458000	0.35223	1.878000	0.54408	0.456000	0.33151	.	KIAA1683	-	-		0.527	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	C		Intron	18380275	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	18380275	C	T	18380275	5	4	131	1	0	0	0	0	0	0	1	0	8271	521	18	4	4101	4	KIAA1683	19	18380275	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	195903	18380275	40748708	1781	21921										
SFRS14	10147	genome.wustl.edu	37	chr19	19136044	19136044	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtgctctggttttaaggaAcatttgaatgaggcaagcat	11	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:19136044A>C	ENST00000601879.1	-	3	1410	c.1113T>G	c.(1111-1113)tgT>tgG	p.C371W	SUGP2_ENST00000600377.1_Missense_Mutation_p.C385W|SUGP2_ENST00000337018.6_Missense_Mutation_p.C371W|SUGP2_ENST00000456085.2_Missense_Mutation_p.C140W|SUGP2_ENST00000452918.2_Missense_Mutation_p.C371W|SUGP2_ENST00000598202.1_5'Flank			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	371					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTTTTAAGGAACATTTGAATG	0.328																																																	0													35	39	38					19																	19136044		2160	4164	6324	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1113T>G	19.37:g.19136044A>C	ENSP00000472286:p.Cys371Trp		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.C371W	ENST00000601879.1	37	c.1113	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427690	0.43122	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.16324	2.51;2.51;2.51;2.35	5.16	-1.24	0.09435	.	0.000000	0.64402	D	0.000001	T	0.22898	0.0553	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.956	T	0.01185	-1.1425	10	0.62326	D	0.03	-18.3905	9.7101	0.40240	0.5689:0.0:0.4311:0.0	.	140;371;371	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	W	371;371;371;140	ENSP00000337926:C371W;ENSP00000332373:C371W;ENSP00000389380:C371W;ENSP00000409603:C140W	ENSP00000332373:C371W	C	-	3	2	SUGP2	18997044	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.426000	0.21363	-0.044000	0.13491	-0.464000	0.05259	TGT	SUGP2	-	NULL		0.328	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1	A	NM_001017392		19136044	-1	no_errors	ENST00000337018	ensembl	human	known	70_37	missense	SNP	0.994	C	C	19136044	A	C	19136044	3	2	131	1	0	0	0	0	1	0	0	0	14200	41	2	5	2167	5	SFRS14	19	19136044	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	755769	19136044	39992939	1782	21922										
GMIP	51291	genome.wustl.edu	37	chr19	19745468	19745468	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcaaggtcttagccagagaGatgaaggcgtcgtagaggtg	16	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:19745468G>T	ENST00000203556.4	-	18	2069	c.1932C>A	c.(1930-1932)atC>atA	p.I644I	GMIP_ENST00000587238.1_Silent_p.I618I|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000445806.2_Silent_p.I615I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	644	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TAGCCAGAGAGATGAAGGCGT	0.647																																																	0													143	145	144					19																	19745468		2203	4300	6503	SO:0001819	synonymous_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1932C>A	19.37:g.19745468G>T			A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.I644	ENST00000203556.4	37	c.1932	CCDS12408.1	19																																																																																			GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.647	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	G	NM_016573		19745468	-1	no_errors	ENST00000203556	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19745468	G	T	19745468	2	4	131	1	0	0	0	0	0	0	0	1	6510	932	33	3		3	GMIP	19	19745468	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	609424	19745468	39383515	1783	21923										
ZNF253	56242	genome.wustl.edu	37	chr19	20002715	20002715	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaccttactacacataagaGaattcataccggagagaaac	6	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:20002715G>T	ENST00000589717.1	+	4	751	c.659G>T	c.(658-660)aGa>aTa	p.R220I	ZNF253_ENST00000355650.4_Missense_Mutation_p.R144I|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	220				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R220I(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACACATAAGAGAATTCATACC	0.378																																																	2	Substitution - Missense(2)	large_intestine(2)											37	41	39					19																	20002715		2169	4277	6446	SO:0001583	missense	56242			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.659G>T	19.37:g.20002715G>T	ENSP00000468720:p.Arg220Ile		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R220I	ENST00000589717.1	37	c.659	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	g	5.642	0.303048	0.10678	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45597	0.1350	M	0.64260	1.97	0.46222	D	0.998932	B	0.29162	0.235	B	0.24974	0.057	T	0.10800	-1.0614	7	.	.	.	.	5.676	0.17749	0.0:0.0:0.686:0.314	.	220	O75346	ZN253_HUMAN	I	220	.	.	R	+	2	0	ZNF253	19863715	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.087000	0.11215	-0.892000	0.03935	-0.901000	0.02856	AGA	ZNF253	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	HGNC	protein_coding	OTTHUMT00000460802.1	G	NM_021047		20002715	1	no_errors	ENST00000589717	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20002715	G	T	20002715	3	4	131	1	0	0	0	0	1	0	0	0	17827	942	33	3	673	3	ZNF253	19	20002715	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	257247	20002715	39126268	1784	21924										
ZNF90	7643	genome.wustl.edu	37	chr19	20228640	20228640	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtccagagcagagcctaaaaGattccttccaaaaagtgata	8	9	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:20228640G>T	ENST00000418063.2	+	4	389	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAGCCTAAAAGATTCCTTCCA	0.338																																																	0													101	92	95					19																	20228640		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.277G>T	19.37:g.20228640G>T	ENSP00000410466:p.Asp93Tyr		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D93Y	ENST00000418063.2	37	c.277	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219748	0.22373	.	.	ENSG00000213988	ENST00000418063	T	0.05025	3.51	0.81	0.81	0.18732	.	.	.	.	.	T	0.23094	0.0558	M	0.88906	2.99	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.05146	-1.0903	9	0.59425	D	0.04	.	4.7747	0.13173	0.0:0.0:1.0:0.0	.	93	Q03938	ZNF90_HUMAN	Y	93	ENSP00000410466:D93Y	ENSP00000410466:D93Y	D	+	1	0	ZNF90	20089640	0.022000	0.18835	0.027000	0.17364	0.066000	0.16364	0.159000	0.16442	0.181000	0.19994	0.184000	0.17185	GAT	ZNF90	-	NULL		0.338	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	G	NM_007138		20228640	1	no_errors	ENST00000418063	ensembl	human	known	70_37	missense	SNP	0.020	T	T	20228640	G	T	20228640	3	4	131	1	0	0	0	0	1	0	0	0	18229	942	33	3	291	3	ZNF90	19	20228640	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	225925	20228640	38900343	1785	21925										
ZNF208	7757	genome.wustl.edu	37	chr19	22156286	22156286	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctctccagtatgaattCtcttatgttccataaggttt	6	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:22156286C>A	ENST00000397126.4	-	4	1698	c.1550G>T	c.(1549-1551)aGa>aTa	p.R517I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTC	0.388																																																	0													14	14	14					19																	22156286		692	1589	2281	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1550G>T	19.37:g.22156286C>A	ENSP00000380315:p.Arg517Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R517I	ENST00000397126.4	37	c.1550	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	7.225	0.598180	0.13939	.	.	ENSG00000160321	ENST00000397126	T	0.24908	1.83	2.98	-5.96	0.02234	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33445	-0.9868	6	0.40728	T	0.16	.	5.0173	0.14343	0.5497:0.2714:0.0:0.179	.	.	.	.	I	517	ENSP00000380315:R517I	ENSP00000380315:R517I	R	-	2	0	ZNF208	21948126	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.497000	0.06428	-1.149000	0.02843	-3.138000	0.00060	AGA	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	C	NM_007153		22156286	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	22156286	C	A	22156286	3	1	131	1	0	0	0	0	1	0	0	0	17796	913	32	3	2296	3	ZNF208	19	22156286	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1927646	22156286	36972697	1786	21926										
ZNF98	148198	genome.wustl.edu	37	chr19	22574445	22574445	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttatgtctgttaagaataGaggagttgttaaaggctttg	11	3	2	2	rs577683093		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:22574445G>T	ENST00000357774.5	-	4	1713	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTTAAGAATAGAGGAGTTGTT	0.373																																																	0													50	43	45					19																	22574445		2118	4248	6366	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1592C>A	19.37:g.22574445G>T	ENSP00000350418:p.Ser531Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S531Y	ENST00000357774.5	37	c.1592	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	4.543	0.100797	0.08731	.	.	ENSG00000197360	ENST00000357774	T	0.08193	3.12	0.81	-0.324	0.12706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21103	0.0508	M	0.67700	2.07	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.07309	-1.0779	9	0.87932	D	0	.	6.1648	0.20384	0.2016:0.0:0.7984:0.0	.	531	A6NK75	ZNF98_HUMAN	Y	531	ENSP00000350418:S531Y	ENSP00000350418:S531Y	S	-	2	0	ZNF98	22366285	0.026000	0.19158	0.000000	0.03702	0.047000	0.14425	1.688000	0.37690	-0.066000	0.12998	0.289000	0.19496	TCT	ZNF98	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	G	NM_001098626		22574445	-1	no_errors	ENST00000357774	ensembl	human	known	70_37	missense	SNP	0.000	T	T	22574445	G	T	22574445	3	4	131	1	0	0	0	0	1	0	0	0	18233	942	33	3	130	3	ZNF98	19	22574445	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	418159	22574445	36554538	1787	21927										
ZNF99	7652	genome.wustl.edu	37	chr19	22942310	22942310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtagttgtccaacattggTtaagtttattataagcttct	9	5	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:22942310T>C	ENST00000596209.1	-	4	491	c.401A>G	c.(400-402)aAc>aGc	p.N134S	ZNF99_ENST00000397104.3_Missense_Mutation_p.N155S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCAACATTGGTTAAGTTTATT	0.303																																																	0													97	92	94					19																	22942310		1862	4095	5957	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.401A>G	19.37:g.22942310T>C	ENSP00000472969:p.Asn134Ser		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N155S	ENST00000596209.1	37	c.464	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	0.022	-1.414933	0.01145	.	.	ENSG00000213973	ENST00000397104	T	0.35605	1.3	1.18	-0.731	0.11151	.	.	.	.	.	T	0.25082	0.0609	L	0.58925	1.835	0.09310	N	1	B	0.25904	0.137	B	0.26202	0.067	T	0.34354	-0.9832	9	0.09843	T	0.71	.	2.0189	0.03505	0.2932:0.0:0.2943:0.4125	.	155	A8MXY4	ZNF99_HUMAN	S	155	ENSP00000380293:N155S	ENSP00000380293:N155S	N	-	2	0	ZNF99	22734150	.	.	0.003000	0.11579	0.013000	0.08279	.	.	-0.483000	0.06772	0.316000	0.21350	AAC	ZNF99	-	NULL		0.303	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	T	XM_065124		22942310	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	C	C	22942310	T	C	22942310	3	2	131	1	0	0	0	0	1	0	0	0	18234	1725	60	5	2664	5	ZNF99	19	22942310	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	367865	22942310	36186673	1788	21928										
ZNF675	171392	genome.wustl.edu	37	chr19	23837076	23837076	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctcacaagtataaattCttttatgtttagtaagcttt	5	5	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:23837076C>A	ENST00000359788.4	-	4	827	c.659G>T	c.(658-660)aGa>aTa	p.R220I	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	220					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R220I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTATAAATTCTTTTATGTTT	0.308																																																	1	Substitution - Missense(1)	large_intestine(1)											37	39	39					19																	23837076		2198	4294	6492	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.659G>T	19.37:g.23837076C>A	ENSP00000352836:p.Arg220Ile		Q8N211	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R220I	ENST00000359788.4	37	c.659	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	13.60	2.286583	0.40494	.	.	ENSG00000197372	ENST00000359788	T	0.18502	2.21	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	L	0.54965	1.715	0.53688	D	0.999972	B	0.14805	0.011	B	0.14023	0.01	T	0.05533	-1.0879	9	0.37606	T	0.19	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	220	Q8TD23	ZN675_HUMAN	I	220	ENSP00000352836:R220I	ENSP00000352836:R220I	R	-	2	0	ZNF675	23628916	0.000000	0.05858	0.247000	0.24249	0.243000	0.25628	0.111000	0.15458	0.300000	0.22699	0.305000	0.20034	AGA	ZNF675	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	C	NM_138330		23837076	-1	no_errors	ENST00000359788	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23837076	C	A	23837076	3	1	131	1	0	0	0	0	1	0	0	0	18112	913	32	3	1051	3	ZNF675	19	23837076	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	894766	23837076	35291907	1789	21929										
ZNF681	148213	genome.wustl.edu	37	chr19	23926771	23926771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tagggtttctctccagtatgAattttcttatgttcagtaag	8	6	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:23926771A>C	ENST00000402377.3	-	4	1722	c.1581T>G	c.(1579-1581)atT>atG	p.I527M	ZNF681_ENST00000395385.3_Missense_Mutation_p.I458M	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCCAGTATGAATTTTCTTAT	0.373																																																	0													41	45	44					19																	23926771		2193	4299	6492	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1581T>G	19.37:g.23926771A>C	ENSP00000384000:p.Ile527Met		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I527M	ENST00000402377.3	37	c.1581	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	5.780	0.328256	0.10956	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.01025	5.43;5.43	1.51	0.392	0.16288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.46614	1.455	0.26108	N	0.980726	D	0.71674	0.998	D	0.67231	0.95	T	0.49551	-0.8928	9	0.66056	D	0.02	.	4.4401	0.11570	0.7729:0.0:0.2271:0.0	.	527	Q96N22	ZN681_HUMAN	M	527;458	ENSP00000384000:I527M;ENSP00000378783:I458M	ENSP00000378783:I458M	I	-	3	3	ZNF681	23718611	0.002000	0.14202	0.075000	0.20258	0.032000	0.12392	-0.254000	0.08781	0.663000	0.31027	0.260000	0.18958	ATT	ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	A	NM_138286		23926771	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	missense	SNP	0.999	C	C	23926771	A	C	23926771	3	2	131	1	0	0	0	0	1	0	0	0	18118	242	9	5	360	5	ZNF681	19	23926771	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	89695	23926771	35202212	1790	21930										
ZNF536	9745	genome.wustl.edu	37	chr19	30935924	30935924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcgtcccggagggggacaaGcactccctcctgggatgcct	15	14	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:30935924G>T	ENST00000355537.3	+	2	1602	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	485					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGGGACAAGCACTCCCTCC	0.652																																																	0													35	38	37					19																	30935924		2203	4299	6502	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1455G>T	19.37:g.30935924G>T	ENSP00000347730:p.Lys485Asn		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K485N	ENST00000355537.3	37	c.1455	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920618	0.17982	.	.	ENSG00000198597	ENST00000355537	T	0.16073	2.37	5.53	0.983	0.19767	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.58101	1.795	0.45580	D	0.998528	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01591	-1.1317	10	0.51188	T	0.08	-34.2216	8.7182	0.34425	0.5177:0.0:0.4823:0.0	.	485;485	A7E228;O15090	.;ZN536_HUMAN	N	485	ENSP00000347730:K485N	ENSP00000347730:K485N	K	+	3	2	ZNF536	35627764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	0.288000	0.22398	0.655000	0.94253	AAG	ZNF536	-	NULL		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		30935924	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.997	T	T	30935924	G	T	30935924	3	4	131	1	0	0	0	0	1	0	0	0	18004	962	34	4	1457	4	ZNF536	19	30935924	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7009153	30935924	28193059	1791	21931										
ZNF507	22847	genome.wustl.edu	37	chr19	32873985	32873985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caatacagctctaaacacaaAttaggtggaataatgactcg	7	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:32873985A>T	ENST00000311921.4	+	6	3050	c.2858A>T	c.(2857-2859)aAt>aTt	p.N953I	ZNF507_ENST00000544431.1_Missense_Mutation_p.N957I|ZNF507_ENST00000355898.5_Missense_Mutation_p.N953I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	953					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTAAACACAAATTAGGTGGAA	0.423																																																	0													65	61	62					19																	32873985		2203	4300	6503	SO:0001583	missense	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2858A>T	19.37:g.32873985A>T	ENSP00000312277:p.Asn953Ile		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N953I	ENST00000311921.4	37	c.2858	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739312	0.15642	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.08984	3.35;3.35;3.03	5.92	1.43	0.22495	.	0.454411	0.25890	N	0.027640	T	0.06826	0.0174	L	0.44542	1.39	0.31303	N	0.688083	B	0.34103	0.437	B	0.32289	0.143	T	0.11966	-1.0566	10	0.87932	D	0	-20.314	5.4259	0.16425	0.5542:0.1398:0.306:0.0	.	953	Q8TCN5	ZN507_HUMAN	I	953;953;957	ENSP00000348162:N953I;ENSP00000312277:N953I;ENSP00000441549:N957I	ENSP00000312277:N953I	N	+	2	0	ZNF507	37565825	0.974000	0.33945	0.003000	0.11579	0.004000	0.04260	0.380000	0.20602	-0.076000	0.12775	-0.256000	0.11100	AAT	ZNF507	-	NULL		0.423	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	A	NM_014910		32873985	1	no_errors	ENST00000311921	ensembl	human	known	70_37	missense	SNP	0.986	T	T	32873985	A	T	32873985	3	4	131	1	0	0	0	0	1	0	0	0	17983	101	4	5	2876	5	ZNF507	19	32873985	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1938061	32873985	26254998	1792	21932										
GPATCH1	55094	genome.wustl.edu	37	chr19	33617532	33617532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacaaacacaaaggcaagcaAaagaataaaaaaccagagaa	6	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:33617532A>C	ENST00000170564.2	+	19	2972	c.2658A>C	c.(2656-2658)caA>caC	p.Q886H		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	886					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AAGGCAAGCAAAAGAATAAAA	0.438											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(67;88 1713 4567 18227)												0													78	75	76					19																	33617532		2203	4300	6503	SO:0001583	missense	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2658A>C	19.37:g.33617532A>C	ENSP00000170564:p.Gln886His	841	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.Q886H	ENST00000170564.2	37	c.2658	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550282	0.27739	.	.	ENSG00000076650	ENST00000170564	T	0.11821	2.74	4.31	-1.82	0.07857	.	0.329111	0.32314	N	0.006279	T	0.05410	0.0143	N	0.20401	0.57	0.33380	D	0.574745	B;B	0.15719	0.014;0.001	B;B	0.12156	0.007;0.002	T	0.30475	-0.9977	10	0.16896	T	0.51	-15.7357	2.2979	0.04154	0.2493:0.2172:0.3993:0.1341	.	886;886	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	H	886	ENSP00000170564:Q886H	ENSP00000170564:Q886H	Q	+	3	2	GPATCH1	38309372	0.992000	0.36948	0.998000	0.56505	0.884000	0.51177	0.103000	0.15292	-0.078000	0.12730	0.378000	0.23410	CAA	GPATCH1	-	NULL		0.438	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	A	NM_018025		33617532	1	no_errors	ENST00000170564	ensembl	human	known	70_37	missense	SNP	0.975	C	C	33617532	A	C	33617532	3	2	131	1	0	0	0	0	1	0	0	0	6609	11	1	5	2732	5	GPATCH1	19	33617532	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	743547	33617532	25511451	1793	21933										
SCN1B	6324	genome.wustl.edu	37	chr19	35523455	35523455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctcagcctgcgggggctgcGtggaggtggactcggagacc	18	12	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:35523455G>A	ENST00000262631.5	+	2	201	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.V22M|SCN1B_ENST00000415950.3_Missense_Mutation_p.V22M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	22	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CGGGGGCTGCGTGGAGGTGGA	0.602																																																	0													94	94	94					19																	35523455		2203	4300	6503	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.64G>A	19.37:g.35523455G>A	ENSP00000262631:p.Val22Met		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.V22M	ENST00000262631.5	37	c.64	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589124	0.66105	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.99143	-5.48;-3.06	3.72	3.72	0.42706	.	0.156003	0.42420	D	0.000707	D	0.98732	0.9574	L	0.55990	1.75	0.40734	D	0.982771	D;D;D	0.89917	0.996;0.999;1.0	D;P;D	0.77004	0.927;0.886;0.989	D	0.99191	1.0870	10	0.87932	D	0	-29.2775	10.8635	0.46839	0.0:0.0:1.0:0.0	.	22;22;22	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	M	22	ENSP00000262631:V22M;ENSP00000396915:V22M	ENSP00000262631:V22M	V	+	1	0	SCN1B	40215295	1.000000	0.71417	0.981000	0.43875	0.546000	0.35178	8.551000	0.90678	1.910000	0.55303	0.563000	0.77884	GTG	SCN1B	-	NULL		0.602	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	G			35523455	1	no_errors	ENST00000262631	ensembl	human	known	70_37	missense	SNP	0.999	A	A	35523455	G	A	35523455	3	1	131	1	0	0	0	0	1	0	0	0	13945	1145	40	2	70	2	SCN1B	19	35523455	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1905923	35523455	23605528	1794	21934										
CD22	933	genome.wustl.edu	37	chr19	35823807	35823807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactgagaaatggatggaacGaatacacctcaatgtctctg	10	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:35823807G>A	ENST00000085219.5	+	3	458	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R131Q|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.R11Q|CD22_ENST00000594250.1_Missense_Mutation_p.R131Q|CD22_ENST00000536635.2_Missense_Mutation_p.R131Q|CD22_ENST00000341773.6_Missense_Mutation_p.R131Q|U62631.5_ENST00000597110.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	131	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGATGGAACGAATACACCTC	0.552																																					Ovarian(42;1009 1133 23674 26041)												0													83	74	77					19																	35823807		2203	4300	6503	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.392G>A	19.37:g.35823807G>A	ENSP00000085219:p.Arg131Gln		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R131Q	ENST00000085219.5	37	c.392	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191453	0.38707	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.93	5.26	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	5.021920	0.00166	N	0.000015	T	0.20536	0.0494	N	0.22421	0.69	0.28003	N	0.935217	B;P;B;B	0.41710	0.336;0.76;0.39;0.299	B;B;B;B	0.30943	0.048;0.122;0.033;0.035	T	0.24048	-1.0171	10	0.16420	T	0.52	.	7.7137	0.28692	0.2854:0.5024:0.2122:0.0	.	131;131;131;131	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Q	131;131;131;131;11	ENSP00000085219:R131Q;ENSP00000442279:R131Q;ENSP00000339349:R131Q;ENSP00000441237:R131Q;ENSP00000270311:R11Q	ENSP00000085219:R131Q	R	+	2	0	CD22	40515647	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.389000	0.02530	-1.394000	0.02077	-0.635000	0.03985	CGA	CD22	-	smart_Ig_sub		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	G	NM_001771		35823807	1	no_errors	ENST00000085219	ensembl	human	known	70_37	missense	SNP	0.000	A	A	35823807	G	A	35823807	3	1	131	1	0	0	0	0	1	0	0	0	2990	1058	37	1	398	1	CD22	19	35823807	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	300352	35823807	23305176	1795	21935										
TMEM147	10430	genome.wustl.edu	37	chr19	36037436	36037436	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctgttctcagatgctgttCttggccactttctttcccac	6	13	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36037436C>A	ENST00000222284.5	+	3	301	c.156C>A	c.(154-156)ttC>ttA	p.F52L	TMEM147_ENST00000392204.2_Missense_Mutation_p.F3L|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.F52L	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	52						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGATGCTGTTCTTGGCCACTT	0.532																																																	0													158	136	143					19																	36037436		2203	4300	6503	SO:0001583	missense	10430			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.156C>A	19.37:g.36037436C>A	ENSP00000222284:p.Phe52Leu		A8MWW0|O75790	Missense_Mutation	SNP	pfam_DUF2053_membrane	p.F52L	ENST00000222284.5	37	c.156	CCDS12466.1	19	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381716	0.24944	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.37584	1.19;1.19;1.19	5.17	4.09	0.47781	.	0.050825	0.85682	D	0.000000	T	0.14917	0.0360	N	0.04959	-0.14	0.58432	D	0.999996	B	0.30634	0.288	B	0.25884	0.064	T	0.11494	-1.0585	10	0.11182	T	0.66	.	10.4744	0.44657	0.0:0.8986:0.0:0.1014	.	52	Q9BVK8	TM147_HUMAN	L	3;52;52	ENSP00000376040:F3L;ENSP00000222284:F52L;ENSP00000376041:F52L	ENSP00000222284:F52L	F	+	3	2	TMEM147	40729276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.415000	0.34748	2.676000	0.91093	0.655000	0.94253	TTC	TMEM147	-	pfam_DUF2053_membrane		0.532	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM147	HGNC	protein_coding	OTTHUMT00000109469.2	C	NM_032635		36037436	1	no_errors	ENST00000222284	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36037436	C	A	36037436	3	1	131	1	0	0	0	0	1	0	0	0	16091	912	32	3	166	3	TMEM147	19	36037436	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	213629	36037436	23091547	1796	21936										
UPK1A	11045	genome.wustl.edu	37	chr19	36164350	36164350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctcctcagatggtgtccaAcccatccctgatcaccaagc	6	16	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36164350A>C	ENST00000222275.2	+	4	371	c.371A>C	c.(370-372)aAc>aCc	p.N124T	UPK1A_ENST00000379013.2_Missense_Mutation_p.N124T|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	124					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTGTCCAACCCATCCCTG	0.667																																																	0													51	48	49					19																	36164350		2203	4300	6503	SO:0001583	missense	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.371A>C	19.37:g.36164350A>C	ENSP00000222275:p.Asn124Thr		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.N124T	ENST00000222275.2	37	c.371	CCDS12470.1	19	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472044	0.26423	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.78481	-1.18;-1.18	5.54	0.849	0.18972	Tetraspanin, EC2 domain (1);	0.336884	0.28420	N	0.015417	T	0.63745	0.2537	L	0.44542	1.39	0.32356	N	0.557842	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.53690	-0.8403	10	0.17369	T	0.5	-0.1142	7.2348	0.26064	0.6399:0.2235:0.1366:0.0	.	124;124	O00322-2;O00322	.;UPK1A_HUMAN	T	124	ENSP00000222275:N124T;ENSP00000368298:N124T	ENSP00000222275:N124T	N	+	2	0	UPK1A	40856190	0.982000	0.34865	0.980000	0.43619	0.707000	0.40811	0.823000	0.27366	-0.544000	0.06232	-1.139000	0.01908	AAC	UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.667	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	A			36164350	1	no_errors	ENST00000379013	ensembl	human	known	70_37	missense	SNP	0.987	C	C	36164350	A	C	36164350	3	2	131	1	0	0	0	0	1	0	0	0	17038	43	2	5	385	5	UPK1A	19	36164350	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	126914	36164350	22964633	1797	21937										
APLP1	333	genome.wustl.edu	37	chr19	36365650	36365650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcccttccacaggcggagcGtgtcctgttggccctgcggc	14	15	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36365650G>A	ENST00000221891.4	+	10	1415	c.1223G>A	c.(1222-1224)cGt>cAt	p.R408H	APLP1_ENST00000586861.1_Missense_Mutation_p.R402H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R369H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	408					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.R408H(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCGGAGCGTGTCCTGTTG	0.677																																																	1	Substitution - Missense(1)	large_intestine(1)											57	40	46					19																	36365650		2203	4299	6502	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1223G>A	19.37:g.36365650G>A	ENSP00000221891:p.Arg408His		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.R408H	ENST00000221891.4	37	c.1223	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011231	0.54361	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48836	0.8;0.8	4.27	4.27	0.50696	Amyloidogenic glycoprotein, E2 domain (2);	0.153019	0.30771	N	0.008908	T	0.49508	0.1561	L	0.43923	1.385	0.44956	D	0.997978	D;B;P;P	0.67145	0.996;0.095;0.917;0.932	P;B;B;B	0.53266	0.722;0.008;0.104;0.167	T	0.38351	-0.9665	10	0.20046	T	0.44	-8.9873	14.5322	0.67934	0.0:0.0:1.0:0.0	.	402;369;408;408	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	369;408	ENSP00000441501:R369H;ENSP00000221891:R408H	ENSP00000221891:R408H	R	+	2	0	APLP1	41057490	1.000000	0.71417	0.942000	0.38095	0.805000	0.45488	4.841000	0.62824	2.092000	0.63282	0.555000	0.69702	CGT	APLP1	-	superfamily_Amyloid_glyco_E2_domain		0.677	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	G	NM_001024807		36365650	1	no_errors	ENST00000221891	ensembl	human	known	70_37	missense	SNP	0.992	A	A	36365650	G	A	36365650	3	1	131	1	0	0	0	0	1	0	0	0	778	1145	40	2	1261	2	APLP1	19	36365650	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	201300	36365650	22763333	1798	21938										
CLIP3	25999	genome.wustl.edu	37	chr19	36508779	36508779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtctgtcttcccgtagaagCgcacgatcccctgcttctgg	10	14	3	1	rs370765485		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36508779C>T	ENST00000360535.4	-	10	1525	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R433H	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	433					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCGTAGAAGCGCACGATCCC	0.637																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	103	95	98		1298,1298	4.7	1	19		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIP3	NM_015526.2,NM_001199570.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	433/548,433/548	36508779	1,13005	2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1298G>A	19.37:g.36508779C>T	ENSP00000353732:p.Arg433His		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.R433H	ENST00000360535.4	37	c.1298	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741237	0.69304	0.0	1.16E-4	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	D	0.82803	-1.65	4.65	4.65	0.58169	Cytoskeleton-associated protein, Gly-rich domain (3);	0.069153	0.64402	D	0.000008	D	0.87354	0.6156	M	0.93678	3.445	0.58432	D	0.999999	B	0.15141	0.012	B	0.10450	0.005	D	0.87308	0.2310	10	0.87932	D	0	-17.5654	15.0547	0.71904	0.0:1.0:0.0:0.0	.	433	Q96DZ5	CLIP3_HUMAN	H	433;315;409	ENSP00000353732:R433H	ENSP00000353732:R433H	R	-	2	0	CLIP3	41200619	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.090000	0.76916	2.416000	0.81992	0.561000	0.74099	CGC	CLIP3	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain		0.637	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	C	NM_015526		36508779	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36508779	C	T	36508779	3	4	131	1	0	0	0	0	1	0	0	0	3539	768	27	2	365	2	CLIP3	19	36508779	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	143129	36508779	22620204	1799	21939										
ZNF345	25850	genome.wustl.edu	37	chr19	37368187	37368187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctatgagtgtaaggaatgtgGgaaagcctttagttttggat	13	3	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37368187G>T	ENST00000529555.1	+	2	1243	c.455G>T	c.(454-456)gGg>gTg	p.G152V	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.G152V|ZNF345_ENST00000589046.1_Missense_Mutation_p.G152V			Q14585	ZN345_HUMAN	zinc finger protein 345	152					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGAATGTGGGAAAGCCTTT	0.423																																																	0													74	70	71					19																	37368187		2203	4300	6503	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.455G>T	19.37:g.37368187G>T	ENSP00000431202:p.Gly152Val			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G152V	ENST00000529555.1	37	c.455	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010311	0.54361	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.23754	1.89;1.89	4.14	3.1	0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55033	0.1895	M	0.91920	3.255	0.50467	D	0.99987	D	0.89917	1.0	D	0.85130	0.997	T	0.62671	-0.6805	8	.	.	.	.	9.6225	0.39730	0.1083:0.0:0.8917:0.0	.	152	Q14585	ZN345_HUMAN	V	152	ENSP00000431216:G152V;ENSP00000431202:G152V	.	G	+	2	0	ZNF345	42060027	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.446000	0.35090	2.280000	0.76307	0.561000	0.74099	GGG	ZNF345	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	G			37368187	1	no_errors	ENST00000420450	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37368187	G	T	37368187	3	4	131	1	0	0	0	0	1	0	0	0	17889	1232	43	4	457	4	ZNF345	19	37368187	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	859408	37368187	21760796	1800	21940										
ZNF345	25850	genome.wustl.edu	37	chr19	37368458	37368458	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggaatggcctttagcagtggTtcggctcttactcggcatca	12	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37368458T>G	ENST00000529555.1	+	2	1514	c.726T>G	c.(724-726)ggT>ggG	p.G242G	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.G242G|ZNF345_ENST00000589046.1_Silent_p.G242G			Q14585	ZN345_HUMAN	zinc finger protein 345	242					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGCAGTGGTTCGGCTCTTA	0.443																																																	0													79	77	78					19																	37368458		2203	4300	6503	SO:0001819	synonymous_variant	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.726T>G	19.37:g.37368458T>G				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G242	ENST00000529555.1	37	c.726	CCDS12497.1	19																																																																																			ZNF345	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	T			37368458	1	no_errors	ENST00000420450	ensembl	human	known	70_37	silent	SNP	0.027	G	G	37368458	T	G	37368458	2	3	131	1	0	0	0	0	0	0	0	1	17889	1712	60	5		5	ZNF345	19	37368458	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	271	37368458	21760525	1801	21941										
ZNF420	147923	genome.wustl.edu	37	chr19	37619728	37619728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagagaatccatactggtgAgaagccctatgaatgcagag	11	8	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37619728A>G	ENST00000337995.3	+	5	2050	c.1835A>G	c.(1834-1836)gAg>gGg	p.E612G	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATACTGGTGAGAAGCCCTAT	0.433																																																	0													69	66	67					19																	37619728		2203	4300	6503	SO:0001583	missense	147923			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1835A>G	19.37:g.37619728A>G	ENSP00000338770:p.Glu612Gly		B2RDY6|Q96ML5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E612G	ENST00000337995.3	37	c.1835	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	A	15.18	2.758292	0.49468	.	.	ENSG00000197050	ENST00000337995	T	0.27557	1.66	4.28	4.28	0.50868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40196	0.1107	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13926	-1.0491	8	.	.	.	.	7.8581	0.29493	0.9001:0.0:0.0999:0.0	.	612	Q8TAQ5	ZN420_HUMAN	G	612	ENSP00000338770:E612G	.	E	+	2	0	ZNF420	42311568	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.789000	0.55454	1.793000	0.52555	0.533000	0.62120	GAG	ZNF420	-	pfscan_Znf_C2H2		0.433	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	A	NM_144689		37619728	1	no_errors	ENST00000337995	ensembl	human	known	70_37	missense	SNP	0.998	G	G	37619728	A	G	37619728	3	3	131	1	0	0	0	0	1	0	0	0	17927	304	11	5	1845	5	ZNF420	19	37619728	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	251270	37619728	21509255	1802	21942										
ZNF585B	92285	genome.wustl.edu	37	chr19	37676174	37676174	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgaacactgatttctgaacGaagcctttcccacagatgcc	7	13	1	4	rs543969932		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37676174G>A	ENST00000532828.2	-	5	2516	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	ZNF585B_ENST00000531805.1_Silent_p.F700F|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Silent_p.F343F|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	755					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCTGAACGAAGCCTTTCC	0.478													G|||	1	0.000199681	0	0	5008	,	,		18989	0		0	False		,,,				2504	0.001				Melanoma(93;882 1454 18863 28917 48427)												0													169	145	153					19																	37676174		2203	4300	6503	SO:0001819	synonymous_variant	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2265C>T	19.37:g.37676174G>A			Q8IZD3|Q96JW6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F755	ENST00000532828.2	37	c.2265	CCDS12500.1	19																																																																																			ZNF585B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	G	NM_152279		37676174	-1	no_errors	ENST00000532828	ensembl	human	known	70_37	silent	SNP	0.452	A	A	37676174	G	A	37676174	2	1	131	1	0	0	0	0	0	0	0	1	18048	1049	37	1		1	ZNF585B	19	37676174	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	56446	37676174	21452809	1803	21943										
ZNF570	148268	genome.wustl.edu	37	chr19	37974926	37974926	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtggaaatgtgagggctaTtttgaaaggcaaccaggtaa	14	4	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37974926T>G	ENST00000330173.1	+	5	931	c.402T>G	c.(400-402)taT>taG	p.Y134*	ZNF570_ENST00000388801.3_De_novo_Start_OutOfFrame|ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Y190*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGGGCTATTTTGAAAGGC	0.358																																																	0													131	131	131					19																	37974926		2203	4300	6503	SO:0001587	stop_gained	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.402T>G	19.37:g.37974926T>G	ENSP00000331540:p.Tyr134*		A1L472|B4DMP1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y134*	ENST00000330173.1	37	c.402	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649616	0.87958	.	.	ENSG00000171827	ENST00000330173	.	.	.	4.85	1.49	0.22878	.	0.718258	0.11431	N	0.564760	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4255	0.16423	0.0:0.1646:0.1477:0.6878	.	.	.	.	X	134	.	ENSP00000331540:Y134X	Y	+	3	2	ZNF570	42666766	0.052000	0.20516	0.003000	0.11579	0.140000	0.21249	0.145000	0.16157	0.068000	0.16574	-0.460000	0.05396	TAT	ZNF570	-	NULL		0.358	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	T	NM_144694		37974926	1	no_errors	ENST00000330173	ensembl	human	known	70_37	nonsense	SNP	0.710	G	G	37974926	T	G	37974926	4	3	131	1	0	0	0	0	0	1	0	0	18032	1500	52	5	416	5	ZNF570	19	37974926	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	298752	37974926	21154057	1804	21944										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38610312	38610312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacgcccagggggtggaaatCgactgcattttgggaatttc	13	8	0	0	rs199695282	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:38610312C>T	ENST00000222345.6	+	9	3167	c.2658C>T	c.(2656-2658)atC>atT	p.I886I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	886					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGTGGAAATCGACTGCATTT	0.572																																																	0													103	118	113					19																	38610312		2202	4300	6502	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2658C>T	19.37:g.38610312C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.I886	ENST00000222345.6	37	c.2658	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL		0.572	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	C	XM_032278		38610312	1	no_errors	ENST00000222345	ensembl	human	known	70_37	silent	SNP	0.660	T	T	38610312	C	T	38610312	2	4	131	1	0	0	0	0	0	0	0	1	14361	874	31	1		1	SIPA1L3	19	38610312	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	635386	38610312	20518671	1805	21945										
CAPN12	147968	genome.wustl.edu	37	chr19	39230811	39230811	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgcctgtgaaatccacaaaAgcctcattcatgtggccgcc	8	15	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:39230811A>T	ENST00000328867.4	-	5	917	c.609T>A	c.(607-609)gcT>gcA	p.A203A	CAPN12_ENST00000601953.1_Silent_p.A54A|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	203	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AATCCACAAAAGCCTCATTCA	0.612																																																	0													38	33	35					19																	39230811		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.609T>A	19.37:g.39230811A>T				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A203	ENST00000328867.4	37	c.609	CCDS12519.1	19																																																																																			CAPN12	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.612	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	A			39230811	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	0.809	T	T	39230811	A	T	39230811	2	4	131	1	0	0	0	0	0	0	0	1	2630	59	3	5		5	CAPN12	19	39230811	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	620499	39230811	19898172	1806	21946										
ZFP36	7538	genome.wustl.edu	37	chr19	39899088	39899088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcacccccctggctcgaagaGaccccaccccagtctgttgc	9	19	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:39899088G>T	ENST00000248673.3	+	2	788	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.D250Y	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	244					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTCGAAGAGACCCCACCCC	0.672																																					NSCLC(67;1164 1324 12056 21056 30097)												0													29	34	32					19																	39899088		2203	4298	6501	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.730G>T	19.37:g.39899088G>T	ENSP00000248673:p.Asp244Tyr		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D250Y	ENST00000248673.3	37	c.748		19	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910521	0.33721	.	.	ENSG00000128016	ENST00000248673	T	0.18502	2.21	4.35	4.35	0.52113	.	0.809225	0.10659	U	0.648940	T	0.15349	0.0370	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07028	-1.0794	10	0.59425	D	0.04	-10.5179	8.1284	0.31012	0.1089:0.0:0.8911:0.0	.	244	P26651	TTP_HUMAN	Y	244	ENSP00000248673:D244Y	ENSP00000248673:D244Y	D	+	1	0	ZFP36	44590928	0.015000	0.18098	0.991000	0.47740	0.484000	0.33280	1.543000	0.36147	2.280000	0.76307	0.442000	0.29010	GAC	ZFP36	-	NULL		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		G			39899088	1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.039	T	T	39899088	G	T	39899088	3	4	131	1	0	0	0	0	1	0	0	0	17675	942	33	3	736	3	ZFP36	19	39899088	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	668277	39899088	19229895	1807	21947										
SELV	348303	genome.wustl.edu	37	chr19	40006584	40006584	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgtcggccatctccttacaGaattgtacggaaaccttccc	7	15	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40006584G>T	ENST00000335426.4	+	1	832	c.732G>T	c.(730-732)caG>caT	p.Q244H	SELV_ENST00000423711.1_Missense_Mutation_p.Q244H	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		244					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCCTTACAGAATTGTACGG	0.617																																																	0													18	19	19					19																	40006584		1924	4128	6052	SO:0001583	missense	348303																														ENST00000335426.4:c.732G>T	19.37:g.40006584G>T	ENSP00000333956:p.Gln244His		Q17RG5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.Q244H	ENST00000335426.4	37	c.732	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955973	0.34471	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.46451	0.87;0.87	1.96	-3.33	0.04958	.	.	.	.	.	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.46659	0.523	T	0.15752	-1.0426	9	0.66056	D	0.02	.	4.2178	0.10544	0.0:0.1932:0.2724:0.5344	.	244	P59797	SELV_HUMAN	H	244	ENSP00000333956:Q244H;ENSP00000412508:Q244H	ENSP00000333956:Q244H	Q	+	3	2	AC011500.1	44698424	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.665000	0.05286	-0.630000	0.05567	0.298000	0.19748	CAG	SELV	-	NULL		0.617	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_genename	protein_coding	OTTHUMT00000389802.1	G			40006584	1	no_errors	ENST00000423711	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40006584	G	T	40006584	3	4	131	1	0	0	0	0	1	0	0	0	14053	933	33	3	734	3	SELV	19	40006584	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	107496	40006584	19122399	1808	21948										
FCGBP	8857	genome.wustl.edu	37	chr19	40433110	40433110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atacgagaactcactgcctgGcacagcctcccaggtgagct	10	14	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40433110G>T	ENST00000221347.6	-	2	1166	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	387	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCACTGCCTGGCACAGCCTCC	0.622																																																	0													116	87	97					19																	40433110		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1159C>A	19.37:g.40433110G>T	ENSP00000221347:p.Pro387Thr		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P387T	ENST00000221347.6	37	c.1159	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190723	0.38707	.	.	ENSG00000090920	ENST00000221347	T	0.19806	2.12	4.36	3.32	0.38043	.	0.286327	0.26995	N	0.021441	T	0.16938	0.0407	L	0.38175	1.15	0.21861	N	0.999507	P	0.43094	0.799	B	0.38562	0.276	T	0.11227	-1.0596	10	0.72032	D	0.01	.	11.8949	0.52652	0.0884:0.0:0.9116:0.0	.	387	Q9Y6R7	FCGBP_HUMAN	T	387	ENSP00000221347:P387T	ENSP00000221347:P387T	P	-	1	0	FCGBP	45124950	0.999000	0.42202	0.443000	0.26883	0.495000	0.33615	3.793000	0.55484	1.426000	0.47256	0.655000	0.94253	CCA	FCGBP	-	NULL		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40433110	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.798	T	T	40433110	G	T	40433110	3	4	131	1	0	0	0	0	1	0	0	0	5796	1203	42	4	15198	4	FCGBP	19	40433110	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	426526	40433110	18695873	1809	21949										
ZNF780B	163131	genome.wustl.edu	37	chr19	40540448	40540448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctcaccagtatgaataCtctgaggttgaacaaggttt	9	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40540448C>A	ENST00000434248.1	-	5	2383	c.2318G>T	c.(2317-2319)aGt>aTt	p.S773I	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S625I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTATGAATACTCTGAGGTTG	0.418																																																	0													85	90	88					19																	40540448		2202	4299	6501	SO:0001583	missense	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2318G>T	19.37:g.40540448C>A	ENSP00000391641:p.Ser773Ile		B9EH00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S773I	ENST00000434248.1	37	c.2318	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048803	0.19827	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.59906	0.23;0.23	2.46	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33731	0.0873	N	0.19112	0.55	0.09310	N	1	B	0.30686	0.29	B	0.22880	0.042	T	0.18085	-1.0348	9	0.59425	D	0.04	.	3.9804	0.09492	0.0:0.3497:0.3817:0.2687	.	773	Q9Y6R6	Z780B_HUMAN	I	773;625	ENSP00000391641:S773I;ENSP00000221355:S625I	ENSP00000221355:S625I	S	-	2	0	ZNF780B	45232288	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.792000	0.00766	-0.140000	0.11394	-0.391000	0.06502	AGT	ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	C	NM_001005851		40540448	-1	no_errors	ENST00000434248	ensembl	human	known	70_37	missense	SNP	0.002	A	A	40540448	C	A	40540448	3	1	131	1	0	0	0	0	1	0	0	0	18183	565	20	4	187	4	ZNF780B	19	40540448	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	107338	40540448	18588535	1810	21950										
PRX	57716	genome.wustl.edu	37	chr19	40900087	40900087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgcatcgccctcctgccccCgagaggctttagaaggggcc	12	16	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40900087C>T	ENST00000324001.7	-	7	4442	c.4172G>A	c.(4171-4173)cGg>cAg	p.R1391Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1391					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCTGCCCCCGAGAGGCTTT	0.701																																																	0													40	49	46					19																	40900087		2203	4300	6503	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4172G>A	19.37:g.40900087C>T	ENSP00000326018:p.Arg1391Gln		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1391Q	ENST00000324001.7	37	c.4172	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941473	0.18281	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02050	4.48	4.56	-1.8	0.07907	.	0.329676	0.21879	N	0.067773	T	0.01661	0.0053	L	0.36672	1.1	0.09310	N	1	B	0.23891	0.093	B	0.16722	0.016	T	0.43114	-0.9411	10	0.40728	T	0.16	-12.3517	3.4204	0.07392	0.1959:0.3595:0.0:0.4446	.	1391	Q9BXM0	PRAX_HUMAN	Q	1391;1326	ENSP00000326018:R1391Q	ENSP00000326018:R1391Q	R	-	2	0	PRX	45591927	0.022000	0.18835	0.166000	0.22797	0.307000	0.27823	0.084000	0.14891	-0.049000	0.13379	-0.229000	0.12294	CGG	PRX	-	NULL		0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	C	NM_020956		40900087	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	missense	SNP	0.003	T	T	40900087	C	T	40900087	3	4	131	1	0	0	0	0	1	0	0	0	12669	652	23	2	217	2	PRX	19	40900087	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	359639	40900087	18228896	1811	21951										
AXL	558	genome.wustl.edu	37	chr19	41745213	41745213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtacccctggaggcctggCgcccaggtaagtccaaagcc	12	15	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:41745213C>T	ENST00000301178.4	+	9	1469	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	AXL_ENST00000593513.1_Missense_Mutation_p.R159C|AXL_ENST00000359092.3_Missense_Mutation_p.R427C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	427	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGGCCTGGCGCCCAGGTAA	0.592																																																	0													93	86	88					19																	41745213		2203	4299	6502	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1279C>T	19.37:g.41745213C>T	ENSP00000301178:p.Arg427Cys		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R427C	ENST00000301178.4	37	c.1279	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	c	16.31	3.086560	0.55861	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75477	-0.94;-0.87	4.58	2.32	0.28847	Fibronectin, type III (2);	0.322180	0.27613	N	0.018598	T	0.67059	0.2853	L	0.40543	1.245	0.31049	N	0.715462	D;D	0.56287	0.975;0.958	P;B	0.48030	0.564;0.361	T	0.69566	-0.5111	10	0.56958	D	0.05	-3.1275	8.3142	0.32091	0.1782:0.6671:0.1547:0.0	.	427;427	P30530-2;P30530	.;UFO_HUMAN	C	427	ENSP00000301178:R427C;ENSP00000351995:R427C	ENSP00000301178:R427C	R	+	1	0	AXL	46437053	0.766000	0.28496	1.000000	0.80357	0.881000	0.50899	0.495000	0.22483	2.107000	0.64212	0.379000	0.24179	CGC	AXL	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	C			41745213	1	no_errors	ENST00000301178	ensembl	human	known	70_37	missense	SNP	0.936	T	T	41745213	C	T	41745213	3	4	131	1	0	0	0	0	1	0	0	0	1239	768	27	2	1313	2	AXL	19	41745213	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	845126	41745213	17383770	1812	21952										
AXL	558	genome.wustl.edu	37	chr19	41765754	41765754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttccacaacccctagccccgCtcagcctgctgataggggct	9	17	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:41765754C>A	ENST00000301178.4	+	20	2820	c.2630C>A	c.(2629-2631)gCt>gAt	p.A877D	HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.A609D|AXL_ENST00000359092.3_Missense_Mutation_p.A868D|HNRNPUL1_ENST00000352456.3_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	877					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCTAGCCCCGCTCAGCCTGCT	0.622																																																	0													34	33	33					19																	41765754		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2630C>A	19.37:g.41765754C>A	ENSP00000301178:p.Ala877Asp		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A877D	ENST00000301178.4	37	c.2630	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	C	7.540	0.660554	0.14645	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75589	-0.95;-0.9	4.44	3.4	0.38934	.	1.262410	0.05603	N	0.576727	T	0.52484	0.1737	N	0.08118	0	0.09310	N	1	B;B	0.20459	0.045;0.026	B;B	0.17722	0.019;0.008	T	0.44937	-0.9295	10	0.12430	T	0.62	0.178	5.5037	0.16842	0.1958:0.7021:0.0:0.1021	.	868;877	P30530-2;P30530	.;UFO_HUMAN	D	877;868	ENSP00000301178:A877D;ENSP00000351995:A868D	ENSP00000301178:A877D	A	+	2	0	AXL	46457594	0.009000	0.17119	0.035000	0.18076	0.410000	0.31052	1.334000	0.33827	1.085000	0.41206	0.591000	0.81541	GCT	AXL	-	NULL		0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	C			41765754	1	no_errors	ENST00000301178	ensembl	human	known	70_37	missense	SNP	0.001	A	A	41765754	C	A	41765754	3	1	131	1	0	0	0	0	1	0	0	0	1239	797	28	4	2708	4	AXL	19	41765754	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	20541	41765754	17363229	1813	21953										
TMEM145	284339	genome.wustl.edu	37	chr19	42818970	42818970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcagaggagggaacccgctaCctgagctgctccagtggccg	14	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:42818970C>T	ENST00000301204.3	+	5	428	c.387C>T	c.(385-387)taC>taT	p.Y129Y	TMEM145_ENST00000598766.1_Silent_p.Y139Y|TMEM145_ENST00000601020.1_3'UTR	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	129					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GAACCCGCTACCTGAGCTGCT	0.617																																																	0													67	67	67					19																	42818970		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.387C>T	19.37:g.42818970C>T				Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.Y129	ENST00000301204.3	37	c.387	CCDS12603.1	19																																																																																			TMEM145	-	NULL		0.617	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	C	NM_173633		42818970	1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42818970	C	T	42818970	2	4	131	1	0	0	0	0	0	0	0	1	16089	518	18	4		4	TMEM145	19	42818970	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1053216	42818970	16310013	1814	21954										
MEGF8	1954	genome.wustl.edu	37	chr19	42873722	42873722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctgtgtgcgcccagggctgCgtgaacggctcatgtgtgga	16	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:42873722C>T	ENST00000251268.6	+	38	6681	c.6681C>T	c.(6679-6681)tgC>tgT	p.C2227C	MEGF8_ENST00000334370.4_Silent_p.C2160C|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2227					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCAGGGCTGCGTGAACGGCT	0.657																																																	0													45	45	45					19																	42873722		2203	4299	6502	SO:0001819	synonymous_variant	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6681C>T	19.37:g.42873722C>T			A8KAY0|O75097	Silent	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.C2227	ENST00000251268.6	37	c.6681		19																																																																																			MEGF8	-	smart_EG-like_dom		0.657	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42873722	1	no_errors	ENST00000251268	ensembl	human	known	70_37	silent	SNP	0.823	T	T	42873722	C	T	42873722	2	4	131	1	0	0	0	0	0	0	0	1	9486	776	27	2		2	MEGF8	19	42873722	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	54752	42873722	16255261	1815	21955										
LIPE	3991	genome.wustl.edu	37	chr19	42930555	42930555	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggccaccattccacccatCgtggctggagaatctgtgtc	11	13	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:42930555C>T	ENST00000244289.4	-	1	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	249					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTCCACCCATCGTGGCTGGAG	0.493																																																	0													115	112	113					19																	42930555		2203	4300	6503	SO:0001819	synonymous_variant	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.747G>A	19.37:g.42930555C>T			Q3LRT2|Q6NSL7	Silent	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.T249	ENST00000244289.4	37	c.747	CCDS12607.1	19																																																																																			LIPE	-	NULL		0.493	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	C	NM_005357		42930555	-1	no_errors	ENST00000244289	ensembl	human	known	70_37	silent	SNP	0.000	T	T	42930555	C	T	42930555	2	4	131	1	0	0	0	0	0	0	0	1	8842	871	31	1		1	LIPE	19	42930555	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	56833	42930555	16198428	1816	21956										
ZNF283	284349	genome.wustl.edu	37	chr19	44352021	44352021	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtcttattcaacatgaaaGaattcatactggtgagaaac	7	6	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44352021G>T	ENST00000324461.7	+	7	1565	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R284I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R423I(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACATGAAAGAATTCATACT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											66	75	72					19																	44352021		2198	4294	6492	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1268G>T	19.37:g.44352021G>T	ENSP00000327314:p.Arg423Ile		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R423I	ENST00000324461.7	37	c.1268	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756537	0.49362	.	.	ENSG00000167637	ENST00000324461	T	0.24908	1.83	3.05	2.0	0.26442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35856	0.0946	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.10177	-1.0641	9	0.66056	D	0.02	.	5.8832	0.18866	0.1198:0.1982:0.682:0.0	.	423	Q8N7M2	ZN283_HUMAN	I	423	ENSP00000327314:R423I	ENSP00000327314:R423I	R	+	2	0	ZNF283	49043861	0.000000	0.05858	0.338000	0.25549	0.920000	0.55202	0.165000	0.16564	0.612000	0.30071	0.462000	0.41574	AGA	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44352021	1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.893	T	T	44352021	G	T	44352021	3	4	131	1	0	0	0	0	1	0	0	0	17850	942	33	3	1282	3	ZNF283	19	44352021	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1421466	44352021	14776962	1817	21957										
ZNF283	284349	genome.wustl.edu	37	chr19	44352726	44352726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaaccctacaaatataacgAatgtggggaagcctttctgt	8	8	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44352726A>G	ENST00000324461.7	+	7	2270	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	ZNF283_ENST00000588797.1_Missense_Mutation_p.E519G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAATATAACGAATGTGGGGAA	0.348																																																	0													71	76	74					19																	44352726		1908	4123	6031	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1973A>G	19.37:g.44352726A>G	ENSP00000327314:p.Glu658Gly		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E658G	ENST00000324461.7	37	c.1973	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494501	0.26774	.	.	ENSG00000167637	ENST00000324461	T	0.47177	0.85	2.78	0.578	0.17391	.	.	.	.	.	T	0.40448	0.1117	L	0.59967	1.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39461	-0.9613	9	0.72032	D	0.01	.	5.8416	0.18637	0.7429:0.0:0.2571:0.0	.	658	Q8N7M2	ZN283_HUMAN	G	658	ENSP00000327314:E658G	ENSP00000327314:E658G	E	+	2	0	ZNF283	49044566	0.000000	0.05858	0.008000	0.14137	0.263000	0.26337	0.231000	0.17872	-0.055000	0.13244	0.455000	0.32223	GAA	ZNF283	-	NULL		0.348	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	A	NM_181845		44352726	1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.029	G	G	44352726	A	G	44352726	3	3	131	1	0	0	0	0	1	0	0	0	17850	246	9	5	1987	5	ZNF283	19	44352726	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	705	44352726	14776257	1818	21958										
ZNF404	342908	genome.wustl.edu	37	chr19	44376971	44376971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattctttacatacatagggTttcaaaccagtatgaattgt	6	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44376971T>G	ENST00000587539.1	-	3	1394	c.1395A>C	c.(1393-1395)aaA>aaC	p.K465N	ZNF404_ENST00000324394.6_Missense_Mutation_p.K463N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ATACATAGGGTTTCAAACCAG	0.348																																																	0													37	40	39					19																	44376971		2141	4258	6399	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1395A>C	19.37:g.44376971T>G	ENSP00000466051:p.Lys465Asn		A4FU30|K7ELF2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K465N	ENST00000587539.1	37	c.1395	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415682	0.42817	.	.	ENSG00000176222	ENST00000324394	T	0.26067	1.76	2.34	2.34	0.29019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46927	0.1418	M	0.70903	2.155	0.26338	N	0.977415	D	0.89917	1.0	D	0.91635	0.999	T	0.19160	-1.0314	9	0.87932	D	0	.	9.3326	0.38032	0.0:0.0:0.0:1.0	.	465	Q494X3	ZN404_HUMAN	N	463	ENSP00000319479:K463N	ENSP00000319479:K463N	K	-	3	2	ZNF404	49068811	0.008000	0.16893	0.961000	0.40146	0.936000	0.57629	-0.353000	0.07691	1.060000	0.40578	0.438000	0.28831	AAA	ZNF404	-	pfscan_Znf_C2H2		0.348	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	T	NM_001033719		44376971	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44376971	T	G	44376971	3	3	131	1	0	0	0	0	1	0	0	0	17916	1722	60	5	267	5	ZNF404	19	44376971	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	24245	44376971	14752012	1819	21959										
ZNF229	7772	genome.wustl.edu	37	chr19	44933581	44933581	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcgccacagctgtagggctTttctccagggtgaatgtgct	12	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44933581T>G	ENST00000588931.1	-	6	1808	c.1375A>C	c.(1375-1377)Aag>Cag	p.K459Q	ZNF229_ENST00000291187.4_Missense_Mutation_p.K453Q|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTGTAGGGCTTTTCTCCAGGG	0.577																																																	0													59	66	63					19																	44933581		2186	4297	6483	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1375A>C	19.37:g.44933581T>G	ENSP00000466519:p.Lys459Gln		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K459Q	ENST00000588931.1	37	c.1375	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220041	0.39201	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36193	0.0958	L	0.49640	1.575	0.22982	N	0.998473	P	0.50819	0.939	P	0.46237	0.508	T	0.16541	-1.0399	8	0.87932	D	0	.	7.9143	0.29808	0.0:0.1048:0.0:0.8952	.	459	Q9UJW7	ZN229_HUMAN	Q	459	.	ENSP00000291187:K459Q	K	-	1	0	ZNF229	49625421	0.633000	0.27181	0.001000	0.08648	0.016000	0.09150	3.311000	0.51919	0.339000	0.23719	0.496000	0.49642	AAG	ZNF229	-	pfscan_Znf_C2H2		0.577	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	T	NM_014518		44933581	-1	no_errors	ENST00000588931	ensembl	human	known	70_37	missense	SNP	0.908	G	G	44933581	T	G	44933581	3	3	131	1	0	0	0	0	1	0	0	0	17812	1850	64	5	1106	5	ZNF229	19	44933581	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	556610	44933581	14195402	1820	21960										
ZNF229	7772	genome.wustl.edu	37	chr19	44934110	44934110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcaaaggtactcttggatgCgggggaaggtctgcatcgtc	14	8	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44934110C>T	ENST00000588931.1	-	6	1279	c.846G>A	c.(844-846)ccG>ccA	p.P282P	ZNF229_ENST00000291187.4_Silent_p.P276P|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443																																																	0													69	66	67					19																	44934110		1935	4134	6069	SO:0001819	synonymous_variant	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.846G>A	19.37:g.44934110C>T			B2RWN3|Q59FV2|Q86WL9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P282	ENST00000588931.1	37	c.846	CCDS42574.1	19																																																																																			ZNF229	-	NULL		0.443	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	C	NM_014518		44934110	-1	no_errors	ENST00000588931	ensembl	human	known	70_37	silent	SNP	0.000	T	T	44934110	C	T	44934110	2	4	131	1	0	0	0	0	0	0	0	1	17812	755	27	2		2	ZNF229	19	44934110	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	529	44934110	14194873	1821	21961										
ZNF180	7733	genome.wustl.edu	37	chr19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctctccagtatgagttCtctgatgggaaacaaggtgc	11	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					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.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												2	Substitution - Missense(2)	large_intestine(2)											66	68	67					19																	44981496		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1202G>T	19.37:g.44981496C>A	ENSP00000221327:p.Arg401Ile		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R401I	ENST00000221327.4	37	c.1202	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640143	0.67244	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.56077	0.1961	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66979	0.877;0.948;0.948	T	0.63332	-0.6661	10	0.87932	D	0	-11.7145	17.8877	0.88862	0.0:1.0:0.0:0.0	.	376;400;401	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	401;376	ENSP00000221327:R401I;ENSP00000375818:R376I	ENSP00000221327:R401I	R	-	2	0	ZNF180	49673336	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.735000	0.26115	2.499000	0.84300	0.591000	0.81541	AGA	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	C	NM_013256		44981496	-1	no_errors	ENST00000221327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44981496	C	A	44981496	3	1	131	1	0	0	0	0	1	0	0	0	17778	913	32	3	880	3	ZNF180	19	44981496	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	47386	44981496	14147487	1822	21962										
RELB	5971	genome.wustl.edu	37	chr19	45506232	45506232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccgacctctcctcactctcGctcgccgtttccaggagcac	7	20	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:45506232G>A	ENST00000221452.8	+	2	282	c.132G>A	c.(130-132)tcG>tcA	p.S44S	RELB_ENST00000505236.1_Silent_p.S44S|RELB_ENST00000540120.1_Silent_p.S44S	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	44	Leucine-zipper.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCTCACTCTCGCTCGCCGTTT	0.602																																																	0													43	48	46					19																	45506232		2003	4178	6181	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.132G>A	19.37:g.45506232G>A			Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.S44	ENST00000221452.8	37	c.132	CCDS46110.1	19																																																																																			RELB	-	NULL		0.602	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	G			45506232	1	no_errors	ENST00000221452	ensembl	human	known	70_37	silent	SNP	0.086	A	A	45506232	G	A	45506232	2	1	131	1	0	0	0	0	0	0	0	1	13247	1074	38	2		2	RELB	19	45506232	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	524736	45506232	13622751	1823	21963										
FBXO46	23403	genome.wustl.edu	37	chr19	46216665	46216665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggctgatggcttgagggccGcagaaggcgggcgtggctgg	21	8	0	3	rs372194078		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:46216665G>A	ENST00000317683.3	-	2	222	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	30										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTTGAGGGCCGCAGAAGGCGG	0.677																																																	0								G	VAL/ALA	0,3948		0,0,1974	22	27	26		89	0.1	0	19		26	1,8305		0,1,4152	no	missense	FBXO46	NM_001080469.1	64	0,1,6126	AA,AG,GG		0.012,0.0,0.0082	benign	30/604	46216665	1,12253	1974	4153	6127	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.89C>T	19.37:g.46216665G>A	ENSP00000410007:p.Ala30Val			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.A30V	ENST00000317683.3	37	c.89	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267433	0.05754	0.0	1.2E-4	ENSG00000177051	ENST00000317683	.	.	.	3.8	0.0862	0.14445	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19063	-1.0317	8	0.44086	T	0.13	-3.4111	2.3112	0.04186	0.1003:0.1643:0.3994:0.336	.	30	Q6PJ61	FBX46_HUMAN	V	30	.	ENSP00000410007:A30V	A	-	2	0	FBXO46	50908505	0.319000	0.24607	0.000000	0.03702	0.033000	0.12548	2.142000	0.42177	0.026000	0.15269	-0.321000	0.08615	GCG	FBXO46	-	NULL		0.677	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46216665	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46216665	G	A	46216665	3	1	131	1	0	0	0	0	1	0	0	0	5773	1087	38	2	1726	2	FBXO46	19	46216665	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	710433	46216665	12912318	1824	21964										
DMPK	1760	genome.wustl.edu	37	chr19	46285499	46285499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcctgggccagttcggaggCgcccagctcctggtggacgc	16	14	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:46285499C>T	ENST00000291270.4	-	1	237	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	DMPK_ENST00000600757.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.A38T|DMPK_ENST00000458663.2_Missense_Mutation_p.A38T|DMPK_ENST00000343373.4_5'Flank|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000447742.2_Missense_Mutation_p.A38T	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	38					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGTTCGGAGGCGCCCAGCTCC	0.697																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0													17	20	19					19																	46285499		2203	4299	6502	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.112G>A	19.37:g.46285499C>T	ENSP00000291270:p.Ala38Thr		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A38T	ENST00000291270.4	37	c.112	CCDS12674.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.559479|1.559479	0.27827|0.27827	.|.	.|.	ENSG00000104936|ENSG00000104936	ENST00000458663;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000354227|ENST00000342805	T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.2;-0.17|.	4.14|4.14	0.87|0.87	0.19102|0.19102	.|.	.|10.943000	.|0.00166	.|N	.|0.000010	T|T	0.18635|0.18635	0.0447|0.0447	N|N	0.03608|0.03608	-0.345|-0.345	0.23693|0.23693	N|N	0.99709|0.99709	B;P;P;P|B	0.44429|0.09022	0.03;0.835;0.835;0.528|0.002	B;B;B;B|B	0.25405|0.04013	0.016;0.06;0.06;0.012|0.001	T|T	0.17289|0.17289	-1.0374|-1.0374	9|9	0.22109|0.39692	T|T	0.4|0.17	.|.	5.454|5.454	0.16580|0.16580	0.0:0.5341:0.0:0.4659|0.0:0.5341:0.0:0.4659	.|.	38;38;38;38|44	Q09013-12;E5KR07;E5KR05;Q09013|G5E982	.;.;.;DMPK_HUMAN|.	T|H	38|44	ENSP00000401753:A38T;ENSP00000291270:A38T;ENSP00000413417:A38T;ENSP00000346168:A38T|.	ENSP00000291270:A38T|ENSP00000342201:R44H	A|R	-|-	1|2	0|0	DMPK|DMPK	50977339|50977339	0.006000|0.006000	0.16342|0.16342	0.644000|0.644000	0.29465|0.29465	0.943000|0.943000	0.58893|0.58893	-0.063000|-0.063000	0.11655|0.11655	0.470000|0.470000	0.27294|0.27294	0.462000|0.462000	0.41574|0.41574	GCC|CGC	DMPK	-	NULL		0.697	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	C	NM_004409		46285499	-1	no_errors	ENST00000291270	ensembl	human	known	70_37	missense	SNP	0.020	T	T	46285499	C	T	46285499	3	4	131	1	0	0	0	0	1	0	0	0	4594	768	27	2	2034	2	DMPK	19	46285499	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	68834	46285499	12843484	1825	21965										
PPP5C	5536	genome.wustl.edu	37	chr19	46850429	46850429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccccggctgatggagctctgAagcgggcagaggagctcaag	16	11	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:46850429A>G	ENST00000012443.4	+	1	179	c.76A>G	c.(76-78)Aag>Gag	p.K26E	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	26					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGGAGCTCTGAAGCGGGCAGA	0.682											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24	22	23					19																	46850429		2197	4299	6496	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.76A>G	19.37:g.46850429A>G	ENSP00000012443:p.Lys26Glu	942	Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.K26E	ENST00000012443.4	37	c.76	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	A	5.540	0.284544	0.10513	.	.	ENSG00000011485	ENST00000012443;ENST00000451918	T	0.28895	1.59	3.19	3.19	0.36642	Tetratricopeptide-like helical (1);	0.269400	0.27941	U	0.017239	T	0.10809	0.0264	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17228	-1.0376	10	0.02654	T	1	-17.3643	9.7295	0.40352	1.0:0.0:0.0:0.0	.	26;26	B2R6R6;P53041	.;PPP5_HUMAN	E	26	ENSP00000012443:K26E	ENSP00000012443:K26E	K	+	1	0	PPP5C	51542269	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.230000	0.42999	1.456000	0.47831	0.379000	0.24179	AAG	PPP5C	-	pirsf_Ser/Thr_PPase_5		0.682	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	A	NM_006247		46850429	1	no_errors	ENST00000012443	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46850429	A	G	46850429	3	3	131	1	0	0	0	0	1	0	0	0	12433	247	9	5	78	5	PPP5C	19	46850429	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	564930	46850429	12278554	1826	21966										
FUT1	2523	genome.wustl.edu	37	chr19	49254472	49254472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgatggatatggaggaagaAgattacagagaggacacaga	14	3	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:49254472A>C	ENST00000310160.3	-	4	1041	c.67T>G	c.(67-69)Ttc>Gtc	p.F23V	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	23					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGAGGAAGAAGATTACAGAG	0.572																																																	0													63	59	61					19																	49254472		2203	4300	6503	SO:0001583	missense	2523				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.67T>G	19.37:g.49254472A>C	ENSP00000312021:p.Phe23Val		O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.F23V	ENST00000310160.3	37	c.67	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486162	0.44147	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	T	0.66280	-0.2	3.05	1.98	0.26296	.	1.343460	0.05054	N	0.478655	T	0.65386	0.2686	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	D	0.72338	0.977	T	0.53099	-0.8486	10	0.19147	T	0.46	-19.2794	5.3742	0.16156	0.7485:0.0:0.0:0.2515	.	23	P19526	FUT1_HUMAN	V	23	ENSP00000312021:F23V	ENSP00000312021:F23V	F	-	1	0	FUT1	53946284	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	0.473000	0.22132	0.349000	0.23975	0.533000	0.62120	TTC	FUT1	-	NULL		0.572	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1	A	NM_000148		49254472	-1	no_errors	ENST00000310160	ensembl	human	known	70_37	missense	SNP	0.006	C	C	49254472	A	C	49254472	3	2	131	1	0	0	0	0	1	0	0	0	6119	72	3	5	1034	5	FUT1	19	49254472	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2404043	49254472	9874511	1827	21967										
DHDH	27294	genome.wustl.edu	37	chr19	49438278	49438278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggtggcggtggcggcccgcGatctgagccgtgcgaaggag	20	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:49438278G>A	ENST00000221403.2	+	2	152	c.112G>A	c.(112-114)Gat>Aat	p.D38N	DHDH_ENST00000523250.1_Missense_Mutation_p.D38N|DHDH_ENST00000522614.1_Missense_Mutation_p.D38N	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	38					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCGGCCCGCGATCTGAGCCG	0.637																																																	0													26	21	23					19																	49438278		2195	4289	6484	SO:0001583	missense	27294			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.112G>A	19.37:g.49438278G>A	ENSP00000221403:p.Asp38Asn			Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.D38N	ENST00000221403.2	37	c.112	CCDS12741.1	19	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795357	0.16327	.	.	ENSG00000104808	ENST00000221403;ENST00000523250;ENST00000522614	T;T;T	0.23147	1.92;1.92;1.92	4.99	1.48	0.22813	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.302988	0.35708	N	0.003036	T	0.12220	0.0297	N	0.25060	0.705	0.32759	N	0.505395	B	0.30870	0.298	B	0.23716	0.048	T	0.13282	-1.0515	10	0.30078	T	0.28	-34.1741	5.2412	0.15473	0.084:0.1435:0.6251:0.1475	.	38	Q9UQ10	DHDH_HUMAN	N	38	ENSP00000221403:D38N;ENSP00000428935:D38N;ENSP00000428672:D38N	ENSP00000221403:D38N	D	+	1	0	DHDH	54130090	0.997000	0.39634	0.811000	0.32455	0.013000	0.08279	2.738000	0.47401	0.804000	0.34136	0.563000	0.77884	GAT	DHDH	-	pfam_Oxidoreductase_N		0.637	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHDH	HGNC	protein_coding	OTTHUMT00000381477.1	G	NM_014475		49438278	1	no_errors	ENST00000221403	ensembl	human	known	70_37	missense	SNP	0.584	A	A	49438278	G	A	49438278	3	1	131	1	0	0	0	0	1	0	0	0	4489	1058	37	1	118	1	DHDH	19	49438278	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	183806	49438278	9690705	1828	21968										
FTL	2512	genome.wustl.edu	37	chr19	49468795	49468795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agattcgtcagaattattccAccgacgtggaggcagccgtc	11	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:49468795A>G	ENST00000331825.6	+	1	238	c.31A>G	c.(31-33)Acc>Gcc	p.T11A	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	11	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAATTATTCCACCGACGTGGA	0.572																																																	0													63	63	63					19																	49468795		2203	4300	6503	SO:0001583	missense	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.31A>G	19.37:g.49468795A>G	ENSP00000366525:p.Thr11Ala		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.T11A	ENST00000331825.6	37	c.31	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580944	0.46006	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.67698	-0.28	5.54	-1.22	0.09494	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.662303	0.15977	N	0.235509	T	0.49029	0.1533	L	0.58925	1.835	0.24366	N	0.994859	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.004	T	0.22765	-1.0207	10	0.11794	T	0.64	.	0.8445	0.01158	0.3486:0.2475:0.0979:0.3059	.	11;11	P02792;F5H1X1	FRIL_HUMAN;.	A	11	ENSP00000366525:T11A	ENSP00000366525:T11A	T	+	1	0	FTL	54160607	0.001000	0.12720	0.985000	0.45067	0.995000	0.86356	-0.252000	0.08806	0.064000	0.16427	0.533000	0.62120	ACC	FTL	-	superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron		0.572	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	A	NM_000146		49468795	1	no_errors	ENST00000331825	ensembl	human	known	70_37	missense	SNP	0.985	G	G	49468795	A	G	49468795	3	3	131	1	0	0	0	0	1	0	0	0	6102	159	6	5	33	5	FTL	19	49468795	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	30517	49468795	9660188	1829	21969										
PRRG2	5639	genome.wustl.edu	37	chr19	50086923	50086923	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaacgggagtgtctggaagaGaggtgttcctgggaagaggc	19	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50086923G>T	ENST00000246794.5	+	3	379	c.210G>T	c.(208-210)gaG>gaT	p.E70D	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	70	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GTCTGGAAGAGAGGTGTTCCT	0.577																																																	0													94	98	97					19																	50086923		2203	4300	6503	SO:0001583	missense	5639				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.210G>T	19.37:g.50086923G>T	ENSP00000246794:p.Glu70Asp		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E70D	ENST00000246794.5	37	c.210	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282194	0.59867	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.99981	-10.35	5.87	1.47	0.22746	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	H	0.94306	3.52	0.23981	N	0.996273	D;D	0.76494	0.998;0.999	D;D	0.80764	0.99;0.994	D	0.97309	0.9936	10	0.87932	D	0	-21.7141	7.4807	0.27404	0.3216:0.0:0.6784:0.0	.	47;70	F5GZ13;O14669	.;TMG2_HUMAN	D	70;47	ENSP00000246794:E70D	ENSP00000246794:E70D	E	+	3	2	PRRG2	54778735	0.291000	0.24352	0.717000	0.30585	0.494000	0.33585	0.496000	0.22499	0.854000	0.35336	0.650000	0.86243	GAG	PRRG2	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain		0.577	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	G	NM_000951		50086923	1	no_errors	ENST00000246794	ensembl	human	known	70_37	missense	SNP	0.398	T	T	50086923	G	T	50086923	3	4	131	1	0	0	0	0	1	0	0	0	12633	933	33	3	216	3	PRRG2	19	50086923	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	618128	50086923	9042060	1830	21970										
NUP62	23636	genome.wustl.edu	37	chr19	50412967	50412967	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagtgccagaggtggagaaaGaaaaccctgtagcaggtgtg	15	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50412967G>T	ENST00000596217.1	-	2	1985	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	NUP62_ENST00000413454.1_Missense_Mutation_p.S33Y|NUP62_ENST00000597723.1_Missense_Mutation_p.S33Y|NUP62_ENST00000597029.1_Missense_Mutation_p.S33Y|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.S33Y|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000352066.3_Missense_Mutation_p.S33Y			P37198	NUP62_HUMAN	nucleoporin 62kDa	33	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGTGGAGAAAGAAAACCCTGT	0.562																																																	0													73	81	79					19																	50412967		2203	4300	6503	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.98C>A	19.37:g.50412967G>T	ENSP00000471191:p.Ser33Tyr		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.S33Y	ENST00000596217.1	37	c.98	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877944	0.51801	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.44083	0.93;0.93;0.93	4.28	4.28	0.50868	Nucleoporin, NSP1-like, C-terminal (1);	0.445909	0.19185	U	0.120573	T	0.63022	0.2476	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.65619	-0.6124	10	0.87932	D	0	-13.888	12.5075	0.55989	0.0:0.0:1.0:0.0	.	33;33	Q8WYU3;P37198	.;NUP62_HUMAN	Y	33	ENSP00000305503:S33Y;ENSP00000407331:S33Y;ENSP00000387991:S33Y	ENSP00000321866:S33Y	S	-	2	0	NUP62	55104779	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.906000	0.56340	2.661000	0.90470	0.563000	0.77884	TCT	NUP62	-	NULL		0.562	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	G	NM_153719		50412967	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50412967	G	T	50412967	3	4	131	1	0	0	0	0	1	0	0	0	10792	942	33	3	1474	3	NUP62	19	50412967	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	326044	50412967	8716016	1831	21971										
SIGLEC11	114132	genome.wustl.edu	37	chr19	50453275	50453275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctccaattgaagcccaaaGcctgggcccctcaggggctg	11	15	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50453275G>A	ENST00000447370.2	-	11	2139	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	SIGLEC11_ENST00000426971.2_Silent_p.G587G|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	683					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GAAGCCCAAAGCCTGGGCCCC	0.607																																																	0													34	32	33					19																	50453275		2202	4300	6502	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2049C>T	19.37:g.50453275G>A				Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G683	ENST00000447370.2	37	c.2049	CCDS12790.2	19	.	.	.	.	.	.	.	.	.	.	G	1.810	-0.474877	0.04414	.	.	ENSG00000161640	ENST00000426971	.	.	.	1.66	0.605	0.17553	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	.	3.8883	0.09108	0.2295:0.0:0.7705:0.0	.	.	.	.	V	577	.	.	A	-	2	0	SIGLEC11	55145087	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.786000	0.04623	0.259000	0.21709	0.467000	0.42956	GCT	SIGLEC11	-	NULL		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	G	NM_052884		50453275	-1	no_errors	ENST00000447370	ensembl	human	known	70_37	silent	SNP	0.000	A	A	50453275	G	A	50453275	2	1	131	1	0	0	0	0	0	0	0	1	14337	958	34	4		4	SIGLEC11	19	50453275	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	40308	50453275	8675708	1832	21972										
NR1H2	7376	genome.wustl.edu	37	chr19	50881478	50881478	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccgaagatgctgggccacgAgctttgccgtgtctgtgggg	16	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50881478A>C	ENST00000253727.5	+	5	489	c.254A>C	c.(253-255)gAg>gCg	p.E85A	NR1H2_ENST00000599105.1_Missense_Mutation_p.E85A|NR1H2_ENST00000598168.1_Missense_Mutation_p.E85A|NR1H2_ENST00000593926.1_Missense_Mutation_p.E85A|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	85					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGGGCCACGAGCTTTGCCGT	0.622																																																	0													91	111	104					19																	50881478		2183	4296	6479	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.254A>C	19.37:g.50881478A>C	ENSP00000253727:p.Glu85Ala		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.E85A	ENST00000253727.5	37	c.254	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982958	0.74474	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.92545	-3.06	4.74	3.7	0.42460	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.64402	D	0.000010	D	0.95971	0.8688	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95539	0.8610	10	0.87932	D	0	.	10.0544	0.42237	0.8487:0.0:0.0:0.1512	.	85;85	P55055;F1D8P7	NR1H2_HUMAN;.	A	85	ENSP00000253727:E85A	ENSP00000253727:E85A	E	+	2	0	NR1H2	55573290	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	8.705000	0.91357	0.917000	0.36895	0.459000	0.35465	GAG	NR1H2	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Ecdystd_rcpt		0.622	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	A			50881478	1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50881478	A	C	50881478	3	2	131	1	0	0	0	0	1	0	0	0	10641	304	11	5	264	5	NR1H2	19	50881478	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	428203	50881478	8247505	1833	21973										
KLK8	11202	genome.wustl.edu	37	chr19	51501139	51501139	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgagagtgtcaggaaaattCtctgagggggaagaggttgt	16	3	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:51501139C>A	ENST00000600767.1	-	6	984	c.495G>T	c.(493-495)gaG>gaT	p.E165D	KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Splice_Site_p.E24D|KLK8_ENST00000291726.7_Splice_Site_p.E165D|KLK8_ENST00000391806.2_Splice_Site_p.E210D|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	165	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CAGGAAAATTCTCTGAGGGGG	0.507																																																	0													81	79	79					19																	51501139		2203	4300	6503	SO:0001630	splice_region_variant	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.494-1G>T	19.37:g.51501139C>A			Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E210D	ENST00000600767.1	37	c.630	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202441	0.38905	.	.	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.92858	-3.12;-3.12;-2.38	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.49305	D	0.000155	D	0.82701	0.5094	N	0.02379	-0.575	0.80722	D	1	P;B;P	0.49783	0.928;0.004;0.612	P;B;B	0.50136	0.632;0.007;0.227	T	0.81510	-0.0900	10	0.33940	T	0.23	.	8.4874	0.33080	0.0:0.8981:0.0:0.1019	.	24;165;210	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	D	210;165;24	ENSP00000375682:E210D;ENSP00000291726:E165D;ENSP00000341555:E24D	ENSP00000291726:E165D	E	-	3	2	KLK8	56192951	0.036000	0.19791	1.000000	0.80357	0.916000	0.54674	-0.376000	0.07465	2.744000	0.94065	0.561000	0.74099	GAG	KLK8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.507	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	C	NM_007196	Missense_Mutation	51501139	-1	no_errors	ENST00000391806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51501139	C	A	51501139	5	1	131	1	0	0	0	0	0	0	1	0	8430	927	32	3	295	3	KLK8	19	51501139	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	619661	51501139	7627844	1834	21974										
SIGLEC8	27181	genome.wustl.edu	37	chr19	51958774	51958774	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcatccctcacgtgcactcGaggcagctccagcagcccag	9	17	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:51958774G>A	ENST00000321424.3	-	4	1015	c.949C>T	c.(949-951)Cga>Tga	p.R317*	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.R224*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.R208*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	317	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGTGCACTCGAGGCAGCTCC	0.637																																																	0													49	46	47					19																	51958774		2203	4300	6503	SO:0001587	stop_gained	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.949C>T	19.37:g.51958774G>A	ENSP00000321077:p.Arg317*		Q7Z728	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R317*	ENST00000321424.3	37	c.949	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	16.56	3.158677	0.57368	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	2.19	1.13	0.20643	.	1.846090	0.03638	N	0.238994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8724	0.13639	0.1835:0.0:0.8165:0.0	.	.	.	.	X	208;317;224	.	ENSP00000321077:R317X	R	-	1	2	SIGLEC8	56650586	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.097000	0.15168	0.484000	0.27630	0.502000	0.49764	CGA	SIGLEC8	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	G	NM_014442		51958774	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	51958774	G	A	51958774	4	1	131	1	0	0	0	0	0	1	0	0	14344	1066	37	1	566	1	SIGLEC8	19	51958774	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	457635	51958774	7170209	1835	21975										
ZNF649	65251	genome.wustl.edu	37	chr19	52394040	52394040	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctcccttgagtgtattCtcttatgtttaacaaggcaa	7	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52394040C>A	ENST00000354957.3	-	5	1633	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	ZNF577_ENST00000420592.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.R422I|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGAGTGTATTCTCTTATGTTT	0.453																																																	0													195	188	190					19																	52394040		2203	4300	6503	SO:0001583	missense	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1349G>T	19.37:g.52394040C>A	ENSP00000347043:p.Arg450Ile		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R450I	ENST00000354957.3	37	c.1349	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568061	0.28003	.	.	ENSG00000198093	ENST00000354957	T	0.10005	2.92	2.63	0.413	0.16401	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	L	0.38175	1.15	0.09310	N	0.999991	B	0.33964	0.434	B	0.25506	0.061	T	0.26430	-1.0103	9	0.54805	T	0.06	.	7.0216	0.24916	0.0:0.7524:0.0:0.2476	.	450	Q9BS31	ZN649_HUMAN	I	450	ENSP00000347043:R450I	ENSP00000347043:R450I	R	-	2	0	ZNF649	57085852	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-1.000000	0.03693	-0.049000	0.13379	-0.490000	0.04691	AGA	ZNF649	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	C	NM_023074		52394040	-1	no_errors	ENST00000354957	ensembl	human	known	70_37	missense	SNP	0.245	A	A	52394040	C	A	52394040	3	1	131	1	0	0	0	0	1	0	0	0	18094	913	32	3	172	3	ZNF649	19	52394040	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	435266	52394040	6734943	1836	21976										
ZNF610	162963	genome.wustl.edu	37	chr19	52869563	52869563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacccatcttgtaatccataCtggagagaaaccttacaaat	5	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52869563C>A	ENST00000403906.3	+	6	1388	c.932C>A	c.(931-933)aCt>aAt	p.T311N	ZNF610_ENST00000327920.8_Missense_Mutation_p.T311N|ZNF610_ENST00000321287.8_Missense_Mutation_p.T311N|ZNF610_ENST00000601151.1_Missense_Mutation_p.T268N	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTAATCCATACTGGAGAGAAA	0.408																																																	0													52	50	50					19																	52869563		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.932C>A	19.37:g.52869563C>A	ENSP00000383922:p.Thr311Asn		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T311N	ENST00000403906.3	37	c.932	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951668	0.34471	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.26067	1.76;1.76	1.41	1.41	0.22369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31734	0.0806	L	0.27975	0.815	0.24308	N	0.995099	P;D	0.53312	0.949;0.959	P;P	0.61397	0.756;0.888	T	0.13764	-1.0497	9	0.66056	D	0.02	.	9.7204	0.40300	0.0:1.0:0.0:0.0	.	268;311	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	N	311;268;311	ENSP00000383922:T311N;ENSP00000327597:T311N	ENSP00000324441:T268N	T	+	2	0	ZNF610	57561375	0.229000	0.23729	0.763000	0.31416	0.069000	0.16628	0.867000	0.27968	0.737000	0.32582	0.313000	0.20887	ACT	ZNF610	-	pfscan_Znf_C2H2		0.408	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	C	NM_173530		52869563	1	no_errors	ENST00000321287	ensembl	human	known	70_37	missense	SNP	0.998	A	A	52869563	C	A	52869563	3	1	131	1	0	0	0	0	1	0	0	0	18066	565	20	4	946	4	ZNF610	19	52869563	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	475523	52869563	6259420	1837	21977										
ZNF610	162963	genome.wustl.edu	37	chr19	52869638	52869638	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctctaaccaatcatcagaGaagtcacacggcggaaaaac	7	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52869638G>T	ENST00000403906.3	+	6	1463	c.1007G>T	c.(1006-1008)aGa>aTa	p.R336I	ZNF610_ENST00000327920.8_Missense_Mutation_p.R336I|ZNF610_ENST00000321287.8_Missense_Mutation_p.R336I|ZNF610_ENST00000601151.1_Missense_Mutation_p.R293I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AATCATCAGAGAAGTCACACG	0.393																																																	0													71	71	71					19																	52869638		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1007G>T	19.37:g.52869638G>T	ENSP00000383922:p.Arg336Ile		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R336I	ENST00000403906.3	37	c.1007	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695896	0.30052	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.24908	1.83;1.83	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	L	0.48986	1.54	0.30167	N	0.80161	B;B	0.27013	0.166;0.1	B;B	0.24701	0.053;0.055	T	0.22068	-1.0227	9	0.72032	D	0.01	.	4.8353	0.13462	0.0:0.1979:0.403:0.3991	.	293;336	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	I	336;293;336	ENSP00000383922:R336I;ENSP00000327597:R336I	ENSP00000324441:R293I	R	+	2	0	ZNF610	57561450	0.000000	0.05858	0.237000	0.24090	0.409000	0.31022	-0.459000	0.06728	-0.829000	0.04268	0.313000	0.20887	AGA	ZNF610	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	G	NM_173530		52869638	1	no_errors	ENST00000321287	ensembl	human	known	70_37	missense	SNP	0.855	T	T	52869638	G	T	52869638	3	4	131	1	0	0	0	0	1	0	0	0	18066	942	33	3	1021	3	ZNF610	19	52869638	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	75	52869638	6259345	1838	21978										
ZNF880	400713	genome.wustl.edu	37	chr19	52887236	52887236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttctggatgtaaacatgtcGaaaaacctatcaacaattcc	5	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52887236G>A	ENST00000422689.2	+	4	418	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	135					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TAAACATGTCGAAAAACCTAT	0.308																																																	0													72	58	63					19																	52887236		692	1591	2283	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.403G>A	19.37:g.52887236G>A	ENSP00000406318:p.Glu135Lys		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E135K	ENST00000422689.2	37	c.403	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048179	0.19827	.	.	ENSG00000221923	ENST00000422689	T	0.06371	3.31	1.46	-0.964	0.10326	.	.	.	.	.	T	0.04407	0.0121	L	0.39514	1.22	0.09310	N	1	P	0.52692	0.955	B	0.39805	0.31	T	0.35895	-0.9770	8	.	.	.	.	2.4596	0.04538	0.2354:0.3311:0.4335:0.0	.	135	Q6PDB4	ZN880_HUMAN	K	135	ENSP00000406318:E135K	.	E	+	1	0	ZNF880	57579048	0.150000	0.22732	0.001000	0.08648	0.001000	0.01503	0.605000	0.24179	-0.027000	0.13873	-0.233000	0.12211	GAA	ZNF880	-	NULL		0.308	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	G	NM_001145434		52887236	1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.009	A	A	52887236	G	A	52887236	3	1	131	1	0	0	0	0	1	0	0	0	18227	1059	37	1	417	1	ZNF880	19	52887236	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	17598	52887236	6241747	1839	21979										
ZNF880	400713	genome.wustl.edu	37	chr19	52888452	52888452	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atacctaaaaaaacatgagaGaattcatactggggagaaac	8	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52888452G>T	ENST00000422689.2	+	4	1634	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	540					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AAACATGAGAGAATTCATACT	0.408																																																	0													58	54	56					19																	52888452		692	1591	2283	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1619G>T	19.37:g.52888452G>T	ENSP00000406318:p.Arg540Ile		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R540I	ENST00000422689.2	37	c.1619	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162266	0.38217	.	.	ENSG00000221923	ENST00000422689	T	0.24908	1.83	1.79	-3.57	0.04612	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	M	0.66297	2.02	0.27403	N	0.954786	D	0.56035	0.974	P	0.52823	0.71	T	0.22312	-1.0220	8	.	.	.	.	2.7981	0.05407	0.2805:0.0:0.3609:0.3586	.	540	Q6PDB4	ZN880_HUMAN	I	540	ENSP00000406318:R540I	.	R	+	2	0	ZNF880	57580264	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.468000	0.06656	-0.421000	0.07416	0.442000	0.29010	AGA	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	G	NM_001145434		52888452	1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.709	T	T	52888452	G	T	52888452	3	4	131	1	0	0	0	0	1	0	0	0	18227	942	33	3	1633	3	ZNF880	19	52888452	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1216	52888452	6240531	1840	21980										
ZNF528	84436	genome.wustl.edu	37	chr19	52919122	52919122	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtctttagtcgccattcataTctagcagaacatcaaacggt	7	10	4	1	rs578002219		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52919122T>G	ENST00000360465.3	+	7	1443	c.1017T>G	c.(1015-1017)taT>taG	p.Y339*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCCATTCATATCTAGCAGAAC	0.393																																																	0													61	61	61					19																	52919122		2203	4300	6503	SO:0001587	stop_gained	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1017T>G	19.37:g.52919122T>G	ENSP00000353652:p.Tyr339*		B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y339*	ENST00000360465.3	37	c.1017	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952199	0.92660	.	.	ENSG00000167555	ENST00000360465	.	.	.	1.85	-2.97	0.05530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0424	0.09758	0.1811:0.5416:0.0:0.2773	.	.	.	.	X	339	.	ENSP00000353652:Y339X	Y	+	3	2	ZNF528	57610934	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.187000	0.03067	-0.406000	0.07588	-0.415000	0.06103	TAT	ZNF528	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	T	NM_032423		52919122	1	no_errors	ENST00000360465	ensembl	human	known	70_37	nonsense	SNP	0.001	G	G	52919122	T	G	52919122	4	3	131	1	0	0	0	0	0	1	0	0	17999	1442	50	5	1031	5	ZNF528	19	52919122	Nonsense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	30670	52919122	6209861	1841	21981										
ZNF816A	125893	genome.wustl.edu	37	chr19	53453422	53453422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaaaccttacatttgtatgGtttttccccagtatgaattc	5	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53453422G>T	ENST00000357666.4	-	5	1906	c.1606C>A	c.(1606-1608)Cca>Aca	p.P536T	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.P536T|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CATTTGTATGGTTTTTCCCCA	0.398																																																	0													94	96	96					19																	53453422		2203	4300	6503	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1606C>A	19.37:g.53453422G>T	ENSP00000350295:p.Pro536Thr		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P536T	ENST00000357666.4	37	c.1606	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760615	0.31137	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.16897	2.31;2.31	1.79	1.79	0.24919	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39172	0.1068	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32981	-0.9886	9	0.66056	D	0.02	.	10.5237	0.44934	0.0:0.0:1.0:0.0	.	536	Q0VGE8	ZN816_HUMAN	T	536	ENSP00000350295:P536T;ENSP00000403266:P536T	ENSP00000350295:P536T	P	-	1	0	ZNF816	58145234	0.002000	0.14202	0.450000	0.26969	0.112000	0.19704	0.345000	0.19979	0.965000	0.38133	0.205000	0.17691	CCA	ZNF816	-	pfscan_Znf_C2H2		0.398	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	G	NM_001031665		53453422	-1	no_errors	ENST00000357666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53453422	G	T	53453422	3	4	131	1	0	0	0	0	1	0	0	0	18207	1261	44	4	353	4	ZNF816A	19	53453422	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	534300	53453422	5675561	1842	21982										
ZNF816A	125893	genome.wustl.edu	37	chr19	53453865	53453865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctctccagtgtgaagtataTgatggcattgaagggatgat	12	5	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53453865T>C	ENST00000357666.4	-	5	1463	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H388R|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GTGAAGTATATGATGGCATTG	0.393																																																	0													147	147	147					19																	53453865		2203	4300	6503	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1163A>G	19.37:g.53453865T>C	ENSP00000350295:p.His388Arg		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H388R	ENST00000357666.4	37	c.1163	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	1.375	-0.585004	0.03827	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.16897	2.31;2.31	1.85	-0.557	0.11800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.02120	-0.675	0.21740	N	0.999569	B	0.18741	0.03	B	0.24006	0.05	T	0.38329	-0.9666	9	0.30854	T	0.27	.	2.4056	0.04412	0.2181:0.3009:0.0:0.4811	.	388	Q0VGE8	ZN816_HUMAN	R	388	ENSP00000350295:H388R;ENSP00000403266:H388R	ENSP00000350295:H388R	H	-	2	0	ZNF816	58145677	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.558000	0.02164	-0.415000	0.07484	0.260000	0.18958	CAT	ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	T	NM_001031665		53453865	-1	no_errors	ENST00000357666	ensembl	human	known	70_37	missense	SNP	0.274	C	C	53453865	T	C	53453865	3	2	131	1	0	0	0	0	1	0	0	0	18207	1464	51	5	796	5	ZNF816A	19	53453865	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	443	53453865	5675118	1843	21983										
ZNF415	55786	genome.wustl.edu	37	chr19	53611640	53611640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccttgccatattaatttcttTtataaggtttctccttagta	4	8	2	0	rs199741749		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53611640T>G	ENST00000500065.4	-	4	1991	c.1658A>C	c.(1657-1659)aAa>aCa	p.K553T	ZNF415_ENST00000448501.1_Missense_Mutation_p.K601T|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.K601T|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.K565T|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.K553T|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.K540T|ZNF415_ENST00000601493.1_Missense_Mutation_p.K323T	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTAATTTCTTTTATAAGGTTT	0.348																																																	0													69	71	70					19																	53611640		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1658A>C	19.37:g.53611640T>G	ENSP00000439435:p.Lys553Thr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.K601T	ENST00000500065.4	37	c.1802	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648694	0.47258	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.16073	2.37;2.37;3.01;3.03;3.01;2.37	2.6	0.0292	0.14161	.	.	.	.	.	T	0.09992	0.0245	N	0.20766	0.605	0.09310	N	1	B;B;B;B;B;B	0.31837	0.051;0.231;0.03;0.051;0.051;0.342	B;B;B;B;B;B	0.31946	0.025;0.105;0.011;0.025;0.025;0.138	T	0.28902	-1.0029	9	0.59425	D	0.04	.	5.362	0.16093	0.1765:0.0:0.5265:0.297	.	553;601;601;553;540;565	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	T	553;553;601;565;601;540	ENSP00000243643:K553T;ENSP00000439435:K553T;ENSP00000396492:K601T;ENSP00000395055:K565T;ENSP00000388787:K601T;ENSP00000414601:K540T	ENSP00000243643:K553T	K	-	2	0	ZNF415	58303452	0.000000	0.05858	0.000000	0.03702	0.568000	0.35870	-1.372000	0.02570	-0.190000	0.10465	0.260000	0.18958	AAA	ZNF415	-	NULL		0.348	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	T	NM_018355		53611640	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	missense	SNP	0.000	G	G	53611640	T	G	53611640	3	3	131	1	0	0	0	0	1	0	0	0	17922	1841	64	5	13	5	ZNF415	19	53611640	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	157775	53611640	5517343	1844	21984										
ZNF415	55786	genome.wustl.edu	37	chr19	53619657	53619657	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catttccactcatcttgagaGaattcgatggccacgtccct	7	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53619657G>T	ENST00000500065.4	-	3	378	c.45C>A	c.(43-45)ttC>ttA	p.F15L	ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000597748.1_Missense_Mutation_p.F15L|ZNF415_ENST00000595813.1_Missense_Mutation_p.F15L|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000595193.1_Missense_Mutation_p.F15L|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000594011.1_Missense_Mutation_p.F15L|ZNF415_ENST00000243643.4_Missense_Mutation_p.F15L|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000599261.1_Missense_Mutation_p.F15L|ZNF415_ENST00000597503.1_Missense_Mutation_p.F15L|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000600574.1_Missense_Mutation_p.F15L|ZNF415_ENST00000601493.1_Intron	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CATCTTGAGAGAATTCGATGG	0.433																																																	0													118	113	115					19																	53619657		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.45C>A	19.37:g.53619657G>T	ENSP00000439435:p.Phe15Leu		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F15L	ENST00000500065.4	37	c.45	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104545	0.37145	.	.	ENSG00000170954	ENST00000243643;ENST00000500065	T;T	0.12879	2.64;2.64	2.94	1.89	0.25635	.	.	.	.	.	T	0.26011	0.0634	L	0.51914	1.62	0.21290	N	0.999739	D;P	0.76494	0.999;0.865	D;P	0.80764	0.994;0.452	T	0.05699	-1.0869	9	0.59425	D	0.04	.	5.7703	0.18249	0.1554:0.0:0.8446:0.0	.	15;15	F5H287;Q09FC8-5	.;.	L	15	ENSP00000243643:F15L;ENSP00000439435:F15L	ENSP00000243643:F15L	F	-	3	2	ZNF415	58311469	0.983000	0.35010	0.031000	0.17742	0.379000	0.30106	1.947000	0.40293	0.574000	0.29417	0.455000	0.32223	TTC	ZNF415	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	G	NM_018355		53619657	-1	no_errors	ENST00000243643	ensembl	human	known	70_37	missense	SNP	0.052	T	T	53619657	G	T	53619657	3	4	131	1	0	0	0	0	1	0	0	0	17922	933	33	3	1630	3	ZNF415	19	53619657	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8017	53619657	5509326	1845	21985										
ZNF347	84671	genome.wustl.edu	37	chr19	53652026	53652026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaggctccttcccttgctccAacatagagataatactgagg	8	11	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53652026A>G	ENST00000334197.7	-	4	247	c.179T>C	c.(178-180)tTg>tCg	p.L60S	ZNF347_ENST00000452676.2_Missense_Mutation_p.L61S|ZNF347_ENST00000601804.1_Missense_Mutation_p.L2S|ZNF347_ENST00000601469.2_Missense_Mutation_p.L61S	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCCTTGCTCCAACATAGAGAT	0.423																																					Melanoma(64;205 1597 17324 45721)												0													204	188	194					19																	53652026		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.179T>C	19.37:g.53652026A>G	ENSP00000334146:p.Leu60Ser		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L61S	ENST00000334197.7	37	c.182	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656560	0.29425	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.01005	5.45;5.45	1.82	1.82	0.25136	Krueppel-associated box (3);	.	.	.	.	T	0.03783	0.0107	M	0.90198	3.095	0.09310	N	1	D;P	0.61697	0.99;0.675	P;B	0.55260	0.772;0.074	T	0.28299	-1.0048	9	0.42905	T	0.14	.	5.68	0.17769	1.0:0.0:0.0:0.0	.	61;60	G5E9N4;Q96SE7	.;ZN347_HUMAN	S	60;61	ENSP00000334146:L60S;ENSP00000405218:L61S	ENSP00000334146:L60S	L	-	2	0	ZNF347	58343838	0.006000	0.16342	0.002000	0.10522	0.092000	0.18411	1.220000	0.32491	1.097000	0.41459	0.477000	0.44152	TTG	ZNF347	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	A	NM_032584		53652026	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	missense	SNP	0.001	G	G	53652026	A	G	53652026	3	3	131	1	0	0	0	0	1	0	0	0	17891	131	5	5	2348	5	ZNF347	19	53652026	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	32369	53652026	5476957	1846	21986										
ZNF331	55422	genome.wustl.edu	37	chr19	54080602	54080602	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taaacttattcagcacaagaGaattcatagtggggagaagc	10	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54080602G>T	ENST00000253144.9	+	7	2121	c.788G>T	c.(787-789)aGa>aTa	p.R263I	ZNF331_ENST00000511593.2_Missense_Mutation_p.R263I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Missense_Mutation_p.R263I|ZNF331_ENST00000449416.1_Missense_Mutation_p.R263I|ZNF331_ENST00000512387.1_Missense_Mutation_p.R263I|ZNF331_ENST00000411977.2_Missense_Mutation_p.R263I|ZNF331_ENST00000513999.1_Missense_Mutation_p.R263I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAGCACAAGAGAATTCATAGT	0.443			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													59	64	62					19																	54080602		2203	4300	6503	SO:0001583	missense	55422			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.788G>T	19.37:g.54080602G>T	ENSP00000253144:p.Arg263Ile		Q96GJ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R263I	ENST00000253144.9	37	c.788	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181259	0.78677	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29;4.29;4.29	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32970	N	0.005435	T	0.11750	0.0286	M	0.64997	1.995	0.45580	D	0.998524	D	0.89917	1.0	D	0.91635	0.999	T	0.01386	-1.1368	10	0.52906	T	0.07	.	13.245	0.60018	0.0:0.0:1.0:0.0	.	263	Q9NQX6	ZN331_HUMAN	I	263	ENSP00000253144:R263I;ENSP00000427439:R263I;ENSP00000393817:R263I;ENSP00000393336:R263I;ENSP00000421014:R263I;ENSP00000423156:R263I;ENSP00000421728:R263I	ENSP00000253144:R263I	R	+	2	0	ZNF331	58772414	0.016000	0.18221	0.947000	0.38551	0.896000	0.52359	1.893000	0.39758	2.049000	0.60858	0.563000	0.77884	AGA	ZNF331	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	G	NM_018555		54080602	1	no_errors	ENST00000253144	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54080602	G	T	54080602	3	4	131	1	0	0	0	0	1	0	0	0	17879	942	33	3	798	3	ZNF331	19	54080602	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	428576	54080602	5048381	1847	21987										
DPRX	503834	genome.wustl.edu	37	chr19	54137881	54137881	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caatgagaacccatacccaaAccccagccttcagaaagaaa	5	14	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54137881A>C	ENST00000376650.1	+	2	176	c.125A>C	c.(124-126)aAc>aCc	p.N42T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CCATACCCAAACCCCAGCCTT	0.448																																																	0													131	114	120					19																	54137881		2203	4300	6503	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.125A>C	19.37:g.54137881A>C	ENSP00000365838:p.Asn42Thr			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N42T	ENST00000376650.1	37	c.125	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813732	0.32053	.	.	ENSG00000204595	ENST00000376650	D	0.95307	-3.67	1.73	-2.24	0.06909	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.83198	0.5202	N	0.10782	0.045	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.69917	-0.5015	9	0.36615	T	0.2	.	0.1509	0.00093	0.3549:0.2399:0.1696:0.2357	.	42	A6NFQ7	DPRX_HUMAN	T	42	ENSP00000365838:N42T	ENSP00000365838:N42T	N	+	2	0	DPRX	58829693	0.000000	0.05858	0.004000	0.12327	0.959000	0.62525	-2.864000	0.00724	-0.793000	0.04475	0.454000	0.30748	AAC	DPRX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.448	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	A	NM_001012728		54137881	1	no_errors	ENST00000376650	ensembl	human	known	70_37	missense	SNP	0.005	C	C	54137881	A	C	54137881	3	2	131	1	0	0	0	0	1	0	0	0	4748	43	2	5	131	5	DPRX	19	54137881	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	57279	54137881	4991102	1848	21988										
LILRB2	10288	genome.wustl.edu	37	chr19	54783268	54783268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagagttcaagtcataaccaTagcacctgtgcgaccacctg	9	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54783268T>C	ENST00000391749.4	-	5	861	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	LILRB2_ENST00000391748.1_Missense_Mutation_p.Y197C|LILRB2_ENST00000391746.1_Missense_Mutation_p.Y197C|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y197C|LILRB2_ENST00000434421.1_Missense_Mutation_p.Y81C|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	197	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCATAACCATAGCACCTGTG	0.592																																																	0													128	123	125					19																	54783268		2203	4300	6503	SO:0001583	missense	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.590A>G	19.37:g.54783268T>C	ENSP00000375629:p.Tyr197Cys		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y197C	ENST00000391749.4	37	c.590	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024193	0.35701	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00808	5.67;5.67;5.67;5.67;5.67	2.58	-0.854	0.10705	Immunoglobulin-like fold (1);	0.650335	0.13555	N	0.379237	T	0.03695	0.0105	M	0.82630	2.6	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.36432	-0.9748	10	0.72032	D	0.01	.	1.9517	0.03368	0.2603:0.3212:0.0:0.4185	.	197;214;197	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	C	197;197;197;197;81	ENSP00000375628:Y197C;ENSP00000319960:Y197C;ENSP00000375629:Y197C;ENSP00000375626:Y197C;ENSP00000410117:Y81C	ENSP00000319960:Y197C	Y	-	2	0	LILRB2	59475080	0.569000	0.26643	0.125000	0.21846	0.065000	0.16274	0.894000	0.28350	-0.150000	0.11195	0.386000	0.25728	TAT	LILRB2	-	NULL		0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	T			54783268	-1	no_errors	ENST00000391749	ensembl	human	known	70_37	missense	SNP	0.127	C	C	54783268	T	C	54783268	3	2	131	1	0	0	0	0	1	0	0	0	8811	1406	49	5	1246	5	LILRB2	19	54783268	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	645387	54783268	4345715	1849	21989										
LILRA2	11027	genome.wustl.edu	37	chr19	55085931	55085931	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cggatacaagagcctgggaaGaatggccagttccccatccc	11	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:55085931G>T	ENST00000251377.3	+	4	367	c.234G>T	c.(232-234)aaG>aaT	p.K78N	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.K66N|LILRA2_ENST00000391738.3_Missense_Mutation_p.K78N|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.K78N|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	78	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGCCTGGGAAGAATGGCCAGT	0.532																																																	0													105	99	101					19																	55085931		2203	4300	6503	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.234G>T	19.37:g.55085931G>T	ENSP00000251377:p.Lys78Asn		O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.K78N	ENST00000251377.3	37	c.234	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775378	0.02951	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	2.93	-0.629	0.11533	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.550290	0.03695	N	0.247657	T	0.07369	0.0186	N	0.25789	0.76	0.09310	N	1	B;B;B;B;B	0.22211	0.0;0.002;0.001;0.001;0.066	B;B;B;B;B	0.23275	0.0;0.006;0.008;0.005;0.045	T	0.20273	-1.0280	10	0.02654	T	1	.	1.242	0.01965	0.2236:0.4053:0.2304:0.1407	.	78;78;66;78;78	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	N	78;78;78;78;66	ENSP00000388131:K78N;ENSP00000251377:K78N;ENSP00000375618:K78N;ENSP00000251376:K78N;ENSP00000375617:K66N	ENSP00000251376:K78N	K	+	3	2	LILRA2	59777743	0.001000	0.12720	0.014000	0.15608	0.002000	0.02628	-0.061000	0.11693	0.096000	0.17463	-0.448000	0.05591	AAG	LILRA2	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.532	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	G			55085931	1	no_errors	ENST00000251377	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55085931	G	T	55085931	3	4	131	1	0	0	0	0	1	0	0	0	8805	933	33	3	244	3	LILRA2	19	55085931	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	302663	55085931	4043052	1850	21990										
LILRB4	11006	genome.wustl.edu	37	chr19	55175910	55175910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctacctgctgtcacaccccaGtgaccccctggagctcatag	8	17	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:55175910G>A	ENST00000391736.1	+	6	944	c.629G>A	c.(628-630)aGt>aAt	p.S210N	LILRB4_ENST00000270452.2_Missense_Mutation_p.S210N|LILRB4_ENST00000391734.3_Missense_Mutation_p.S210N|LILRB4_ENST00000391733.3_Missense_Mutation_p.S210N|LILRB4_ENST00000430952.2_Missense_Mutation_p.S210N	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	210	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCACACCCCAGTGACCCCCTG	0.612																																																	0													61	61	61					19																	55175910		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.629G>A	19.37:g.55175910G>A	ENSP00000375616:p.Ser210Asn		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	pfam_Immunoglobulin,pfscan_Ig-like	p.S210N	ENST00000391736.1	37	c.629	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330560	0.41297	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.01464	4.86;4.86;4.86;4.86;4.86;4.86	2.63	1.55	0.23275	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	H	0.99197	4.465	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.994	T	0.10177	-1.0641	9	0.87932	D	0	.	5.3837	0.16206	0.1731:0.0:0.8269:0.0	.	210;210;210;210;210	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	N	210	ENSP00000375616:S210N;ENSP00000270452:S210N;ENSP00000408995:S210N;ENSP00000375614:S210N;ENSP00000375613:S210N;ENSP00000401962:S210N	ENSP00000270452:S210N	S	+	2	0	LILRB4	59867722	0.310000	0.24527	0.047000	0.18901	0.029000	0.11900	3.342000	0.52159	0.414000	0.25790	0.400000	0.26472	AGT	LILRB4	-	pfscan_Ig-like		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	G			55175910	1	no_errors	ENST00000270452	ensembl	human	known	70_37	missense	SNP	0.376	A	A	55175910	G	A	55175910	3	1	131	1	0	0	0	0	1	0	0	0	8813	1029	36	4	643	4	LILRB4	19	55175910	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	89979	55175910	3953073	1851	21991										
PTPRH	5794	genome.wustl.edu	37	chr19	55713513	55713513	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acaaacacccgggttcaagtCtatccacggtgatgttggtg	11	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:55713513C>A	ENST00000376350.3	-	6	1086	c.1064G>T	c.(1063-1065)aGa>aTa	p.R355I	PTPRH_ENST00000263434.5_Missense_Mutation_p.R177I|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	355	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTTCAAGTCTATCCACGGT	0.562																																																	0													158	143	148					19																	55713513		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1064G>T	19.37:g.55713513C>A	ENSP00000365528:p.Arg355Ile		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R355I	ENST00000376350.3	37	c.1064	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320508	0.41096	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54675	0.56;0.56	4.64	0.911	0.19343	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35970	0.0950	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39282	0.641;0.588;0.666	B;B;B	0.38500	0.275;0.118;0.149	T	0.22277	-1.0221	9	0.87932	D	0	.	6.3765	0.21511	0.0:0.6456:0.0:0.3544	.	177;177;355	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	I	355;177	ENSP00000365528:R355I;ENSP00000263434:R177I	ENSP00000263434:R177I	R	-	2	0	PTPRH	60405325	0.000000	0.05858	0.090000	0.20809	0.012000	0.07955	-0.907000	0.04067	0.373000	0.24621	0.456000	0.33151	AGA	PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55713513	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	missense	SNP	0.025	A	A	55713513	C	A	55713513	3	1	131	1	0	0	0	0	1	0	0	0	12833	913	32	3	2343	3	PTPRH	19	55713513	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	537603	55713513	3415470	1852	21992										
NLRP9	338321	genome.wustl.edu	37	chr19	56220385	56220385	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcaggatcttctgagtttCttcatcaaagccagatttgt	7	9	6	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56220385C>A	ENST00000332836.2	-	9	2896	c.2869G>T	c.(2869-2871)Gaa>Taa	p.E957*	CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	957						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCTGAGTTTCTTCATCAAAG	0.383																																																	0													84	84	84					19																	56220385		2203	4300	6503	SO:0001587	stop_gained	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2869G>T	19.37:g.56220385C>A	ENSP00000331857:p.Glu957*		B2RN12|Q86W27	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E957*	ENST00000332836.2	37	c.2869	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691896	0.88735	.	.	ENSG00000185792	ENST00000332836	.	.	.	2.65	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.50813	D	0.999893	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.9834	0.35979	0.0:1.0:0.0:0.0	.	.	.	.	X	957	.	ENSP00000331857:E957X	E	-	1	0	NLRP9	60912197	0.003000	0.15002	0.005000	0.12908	0.011000	0.07611	0.503000	0.22610	1.815000	0.52974	0.655000	0.94253	GAA	NLRP9	-	NULL		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56220385	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	nonsense	SNP	0.005	A	A	56220385	C	A	56220385	4	1	131	1	0	0	0	0	0	1	0	0	10508	922	32	3	110	3	NLRP9	19	56220385	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	506872	56220385	2908598	1853	21993										
NLRP9	338321	genome.wustl.edu	37	chr19	56235489	56235489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaaataattctgaatcatgTccaaagtacacagaagtaaa	5	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56235489T>C	ENST00000332836.2	-	4	2043	c.2016A>G	c.(2014-2016)ggA>ggG	p.G672G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	672						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGAATCATGTCCAAAGTACA	0.413																																																	0													54	50	52					19																	56235489		2203	4300	6503	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2016A>G	19.37:g.56235489T>C			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G672	ENST00000332836.2	37	c.2016	CCDS12934.1	19																																																																																			NLRP9	-	NULL		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	T	NM_176820		56235489	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	silent	SNP	0.000	C	C	56235489	T	C	56235489	2	2	131	1	0	0	0	0	0	0	0	1	10508	1654	58	5		5	NLRP9	19	56235489	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	15104	56235489	2893494	1854	21994										
NLRP4	147945	genome.wustl.edu	37	chr19	56382215	56382215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggctttctgccacctcagcGagcagtgctgcgaatacatc	10	13	2	0	rs569279993		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56382215G>A	ENST00000301295.6	+	7	2799	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E718K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E737K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	793					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E793K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCACCTCAGCGAGCAGTGCTG	0.493													G|||	1	0.000199681	8e-04	0	5008	,	,		19754	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											141	122	128					19																	56382215		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2377G>A	19.37:g.56382215G>A	ENSP00000301295:p.Glu793Lys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E793K	ENST00000301295.6	37	c.2377	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033330	0.19590	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54479	0.57;2.09	3.94	-1.07	0.09968	.	.	.	.	.	T	0.36054	0.0953	L	0.39467	1.215	0.09310	N	1	B;B;B	0.31077	0.147;0.307;0.181	B;B;B	0.32022	0.038;0.139;0.045	T	0.23476	-1.0187	9	0.25106	T	0.35	.	3.7243	0.08469	0.3237:0.1894:0.4869:0.0	.	737;718;793	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	793;737	ENSP00000301295:E793K;ENSP00000344787:E737K	ENSP00000301295:E793K	E	+	1	0	NLRP4	61074027	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	0.107000	0.17824	-0.145000	0.13849	GAG	NLRP4	-	NULL		0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56382215	1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56382215	G	A	56382215	3	1	131	1	0	0	0	0	1	0	0	0	10503	1059	37	1	2399	1	NLRP4	19	56382215	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	146726	56382215	2746768	1855	21995										
NLRP4	147945	genome.wustl.edu	37	chr19	56382313	56382313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgaaggacgaaggactgaaAactctctgcgaggccttgaa	12	9	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56382313A>C	ENST00000301295.6	+	7	2897	c.2475A>C	c.(2473-2475)aaA>aaC	p.K825N	NLRP4_ENST00000587891.1_Missense_Mutation_p.K750N|NLRP4_ENST00000346986.5_Missense_Mutation_p.K769N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	825					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGACTGAAAACTCTCTGCG	0.502																																																	0													134	118	123					19																	56382313		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2475A>C	19.37:g.56382313A>C	ENSP00000301295:p.Lys825Asn		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K825N	ENST00000301295.6	37	c.2475	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	A	10.43	1.346807	0.24426	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54479	0.57;2.57	3.9	-7.8	0.01214	.	.	.	.	.	T	0.42854	0.1221	M	0.76328	2.33	0.09310	N	1	B;B;B	0.33940	0.036;0.433;0.34	B;B;B	0.34824	0.02;0.119;0.19	T	0.18398	-1.0338	9	0.40728	T	0.16	.	2.9092	0.05731	0.1942:0.1202:0.4481:0.2376	.	769;750;825	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	825;769	ENSP00000301295:K825N;ENSP00000344787:K769N	ENSP00000301295:K825N	K	+	3	2	NLRP4	61074125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.686000	0.00834	-2.543000	0.00484	-0.256000	0.11100	AAA	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	A	NM_134444		56382313	1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	C	C	56382313	A	C	56382313	3	2	131	1	0	0	0	0	1	0	0	0	10503	11	1	5	2497	5	NLRP4	19	56382313	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	98	56382313	2746670	1856	21996										
NLRP5	126206	genome.wustl.edu	37	chr19	56538691	56538691	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgttcatcattgacggtttCgatgacctgggctctgtcct	10	10	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56538691C>T	ENST00000390649.3	+	7	1092	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	364	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.F364F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGACGGTTTCGATGACCTGG	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)											46	46	46					19																	56538691		2076	4215	6291	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1092C>T	19.37:g.56538691C>T			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F364	ENST00000390649.3	37	c.1092	CCDS12938.1	19																																																																																			NLRP5	-	pfscan_NACHT_NTPase		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	C	NM_153447		56538691	1	no_errors	ENST00000390649	ensembl	human	known	70_37	silent	SNP	0.002	T	T	56538691	C	T	56538691	2	4	131	1	0	0	0	0	0	0	0	1	10504	883	31	1		1	NLRP5	19	56538691	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	156378	56538691	2590292	1857	21997										
ZNF583	147949	genome.wustl.edu	37	chr19	56934722	56934722	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcccttactcttcatcagaGaattcatactggagagaaac	6	10	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56934722G>T	ENST00000333201.9	+	5	905	c.695G>T	c.(694-696)aGa>aTa	p.R232I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R232I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	232					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.R232I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTCATCAGAGAATTCATACT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											45	50	48					19																	56934722		2203	4297	6500	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.695G>T	19.37:g.56934722G>T	ENSP00000388502:p.Arg232Ile		O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R232I	ENST00000333201.9	37	c.695	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692434	0.68271	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.02446	4.29;4.29	4.43	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000272	T	0.05914	0.0154	L	0.45422	1.42	0.45704	D	0.998612	D	0.76494	0.999	D	0.67548	0.952	T	0.42258	-0.9462	9	.	.	.	.	5.611	0.17406	0.3784:0.1299:0.4917:0.0	.	232	Q96ND8	ZN583_HUMAN	I	232	ENSP00000291598:R232I;ENSP00000388502:R232I	.	R	+	2	0	ZNF583	61626534	0.000000	0.05858	0.052000	0.19188	0.995000	0.86356	-2.160000	0.01279	-0.175000	0.10725	0.462000	0.41574	AGA	ZNF583	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	G	NM_152478		56934722	1	no_errors	ENST00000291598	ensembl	human	known	70_37	missense	SNP	0.936	T	T	56934722	G	T	56934722	3	4	131	1	0	0	0	0	1	0	0	0	18045	942	33	3	709	3	ZNF583	19	56934722	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	396031	56934722	2194261	1858	21998										
ZNF583	147949	genome.wustl.edu	37	chr19	56935058	56935058	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atttcttgctcagcatcagaGaattcatacaggagagaaac	8	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56935058G>T	ENST00000333201.9	+	5	1241	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R344I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	344					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.R344I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGCATCAGAGAATTCATACA	0.413																																																	2	Substitution - Missense(2)	large_intestine(2)											116	123	121					19																	56935058		2203	4300	6503	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1031G>T	19.37:g.56935058G>T	ENSP00000388502:p.Arg344Ile		O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R344I	ENST00000333201.9	37	c.1031	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527511	0.64860	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.33	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000196	T	0.50309	0.1608	M	0.81179	2.53	0.50813	D	0.999898	D	0.89917	1.0	D	0.80764	0.994	T	0.56080	-0.8038	9	.	.	.	.	15.2331	0.73407	0.0:0.5566:0.4434:0.0	.	344	Q96ND8	ZN583_HUMAN	I	344	ENSP00000291598:R344I;ENSP00000388502:R344I	.	R	+	2	0	ZNF583	61626870	0.000000	0.05858	0.640000	0.29408	0.996000	0.88848	-0.098000	0.11024	0.166000	0.19597	0.462000	0.41574	AGA	ZNF583	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	G	NM_152478		56935058	1	no_errors	ENST00000291598	ensembl	human	known	70_37	missense	SNP	0.968	T	T	56935058	G	T	56935058	3	4	131	1	0	0	0	0	1	0	0	0	18045	942	33	3	1045	3	ZNF583	19	56935058	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	336	56935058	2193925	1859	21999										
ZFP28	140612	genome.wustl.edu	37	chr19	57066329	57066329	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcaaagactgcacactggCcaaagaccttatgaatgtat	7	10	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:57066329C>A	ENST00000301318.3	+	8	2246	c.2175C>A	c.(2173-2175)ggC>ggA	p.G725G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGCACACTGGCCAAAGACCTT	0.408																																					Ovarian(124;554 1662 19430 21141 52494)												0													110	107	108					19																	57066329		2203	4300	6503	SO:0001819	synonymous_variant	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2175C>A	19.37:g.57066329C>A			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G725	ENST00000301318.3	37	c.2175	CCDS12946.1	19																																																																																			ZFP28	-	pfscan_Znf_C2H2		0.408	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	C	NM_020828		57066329	1	no_errors	ENST00000301318	ensembl	human	known	70_37	silent	SNP	0.998	A	A	57066329	C	A	57066329	2	1	131	1	0	0	0	0	0	0	0	1	17672	726	26	4		4	ZFP28	19	57066329	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	131271	57066329	2062654	1860	22000										
ZNF304	57343	genome.wustl.edu	37	chr19	57869030	57869030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgtgggaaattctttagccGcaactctggcctcattctgc	9	11	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:57869030G>A	ENST00000282286.5	+	3	1966	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ZNF304_ENST00000598744.1_Missense_Mutation_p.R556H|ZNF304_ENST00000443917.2_Missense_Mutation_p.R645H|ZNF304_ENST00000391705.3_Missense_Mutation_p.R598H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCTTTAGCCGCAACTCTGGC	0.478																																																	0													76	70	72					19																	57869030		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1793G>A	19.37:g.57869030G>A	ENSP00000282286:p.Arg598His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R598H	ENST00000282286.5	37	c.1793	CCDS12950.1	19	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789285	0.49997	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15718	2.4;2.4;2.4	3.65	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	N	0.25245	0.725	0.22185	N	0.999308	P;D	0.89917	0.859;1.0	B;P	0.61658	0.108;0.892	T	0.11203	-1.0597	9	0.12103	T	0.63	.	8.0331	0.30476	0.0:0.1748:0.6453:0.1798	.	598;645	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	598;598;645	ENSP00000282286:R598H;ENSP00000375586:R598H;ENSP00000401642:R645H	ENSP00000282286:R598H	R	+	2	0	ZNF304	62560842	0.000000	0.05858	0.920000	0.36463	0.988000	0.76386	-0.235000	0.09016	1.069000	0.40788	0.650000	0.86243	CGC	ZNF304	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	HGNC	protein_coding	OTTHUMT00000465785.1	G			57869030	1	no_errors	ENST00000282286	ensembl	human	known	70_37	missense	SNP	0.751	A	A	57869030	G	A	57869030	3	1	131	1	0	0	0	0	1	0	0	0	17863	1087	38	2	1803	2	ZNF304	19	57869030	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	802701	57869030	1259953	1861	22001										
ZNF749	388567	genome.wustl.edu	37	chr19	57955457	57955457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttacacaggctcatctggTtggtcaccagaaaacccata	7	12	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:57955457T>C	ENST00000334181.4	+	3	1191	c.941T>C	c.(940-942)gTt>gCt	p.V314A	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTCATCTGGTTGGTCACCAG	0.438																																																	0													65	64	65					19																	57955457		2203	4300	6503	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.941T>C	19.37:g.57955457T>C	ENSP00000333980:p.Val314Ala			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V314A	ENST00000334181.4	37	c.941	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.172748	0.00315	.	.	ENSG00000186230	ENST00000334181	T	0.07021	3.23	1.59	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.10707	0.03	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.46456	-0.9190	9	0.09084	T	0.74	.	3.693	0.08353	0.0:0.2747:0.2788:0.4464	.	314	O43361	ZN749_HUMAN	A	314	ENSP00000333980:V314A	ENSP00000333980:V314A	V	+	2	0	ZNF749	62647269	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-4.139000	0.00287	-0.607000	0.05738	-0.756000	0.03474	GTT	ZNF749	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	T	NM_001023561		57955457	1	no_errors	ENST00000334181	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57955457	T	C	57955457	3	2	131	1	0	0	0	0	1	0	0	0	18161	1725	60	5	951	5	ZNF749	19	57955457	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	86427	57955457	1173526	1862	22002										
ZNF773	374928	genome.wustl.edu	37	chr19	58018347	58018347	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacacttgttcagcatcacaGaatccacactggagtaaggc	8	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58018347G>T	ENST00000282292.4	+	4	1024	c.884G>T	c.(883-885)aGa>aTa	p.R295I	ZNF773_ENST00000598770.1_Missense_Mutation_p.R294I|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGCATCACAGAATCCACACT	0.423																																																	0													144	138	140					19																	58018347		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.884G>T	19.37:g.58018347G>T	ENSP00000282292:p.Arg295Ile		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R295I	ENST00000282292.4	37	c.884	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055080	0.36277	.	.	ENSG00000152439	ENST00000282292	T	0.02446	4.29	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	L	0.58810	1.83	0.22541	N	0.999003	D;P	0.61080	0.989;0.951	P;B	0.52267	0.694;0.313	T	0.32268	-0.9913	9	0.62326	D	0.03	.	6.628	0.22841	0.0:0.0:0.7193:0.2807	.	294;295	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	I	295	ENSP00000282292:R295I	ENSP00000282292:R295I	R	+	2	0	ZNF773	62710159	0.000000	0.05858	0.588000	0.28705	0.934000	0.57294	-0.340000	0.07821	0.987000	0.38709	0.305000	0.20034	AGA	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58018347	1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.140	T	T	58018347	G	T	58018347	3	4	131	1	0	0	0	0	1	0	0	0	18176	942	33	3	898	3	ZNF773	19	58018347	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	62890	58018347	1110636	1863	22003										
ZNF549	256051	genome.wustl.edu	37	chr19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctgagcagactctttctgCgcaaggagtgtcacaggcca	11	11	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58048626C>T	ENST00000376233.3	+	4	435	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453																																																	0													114	102	106					19																	58048626		2203	4300	6503	SO:0001583	missense	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.254C>T	19.37:g.58048626C>T	ENSP00000365407:p.Ala85Val		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A85V	ENST00000376233.3	37	c.254	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.743933	0.00675	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.04970	3.54;3.52	2.28	-2.44	0.06502	Krueppel-associated box (1);	.	.	.	.	T	0.01558	0.0050	N	0.00422	-1.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47182	-0.9137	9	0.28530	T	0.3	.	6.475	0.22031	0.0:0.4175:0.0:0.5825	.	85;72	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	V	72;85	ENSP00000240719:A72V;ENSP00000365407:A85V	ENSP00000240719:A72V	A	+	2	0	ZNF549	62740438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.030000	0.03581	-0.664000	0.05324	-0.812000	0.03155	GCG	ZNF549	-	pfscan_Krueppel-associated_box		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	C	NM_153263		58048626	1	no_errors	ENST00000376233	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58048626	C	T	58048626	3	4	131	1	0	0	0	0	1	0	0	0	18011	768	27	2	225	2	ZNF549	19	58048626	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	30279	58048626	1080357	1864	22004										
ZNF814	730051	genome.wustl.edu	37	chr19	58384949	58384949	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccacattctccacactcataAggcctctctccagtatgaac	4	16	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58384949A>T	ENST00000435989.2	-	3	2043	c.1809T>A	c.(1807-1809)ccT>ccA	p.P603P	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	603					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACACTCATAAGGCCTCTCTC	0.473																																																	0													91	75	80					19																	58384949		692	1591	2283	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1809T>A	19.37:g.58384949A>T			A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P603	ENST00000435989.2	37	c.1809	CCDS46212.1	19																																																																																			ZNF814	-	pfscan_Znf_C2H2		0.473	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	A	XM_001725708		58384949	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.312	T	T	58384949	A	T	58384949	2	4	131	1	0	0	0	0	0	0	0	1	18206	59	3	5		5	ZNF814	19	58384949	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	336323	58384949	744034	1865	22005										
ZNF417	147687	genome.wustl.edu	37	chr19	58420963	58420963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaaaagtttctggtgtggaAtaactgagtgtttggtgctg	14	3	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58420963A>C	ENST00000312026.5	-	3	847	c.683T>G	c.(682-684)aTt>aGt	p.I228S	ZNF417_ENST00000536263.1_Missense_Mutation_p.I29S|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.I227S	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTGGTGTGGAATAACTGAGTG	0.418																																																	0													15	16	16					19																	58420963		2041	4181	6222	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.683T>G	19.37:g.58420963A>C	ENSP00000311319:p.Ile228Ser		B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I228S	ENST00000312026.5	37	c.683	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	5.917	0.353280	0.11182	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.28454	1.61;1.61	2.31	-0.095	0.13643	.	.	.	.	.	T	0.15955	0.0384	L	0.33245	0.995	0.09310	N	1	B;B	0.24426	0.103;0.0	B;B	0.19391	0.025;0.001	T	0.33624	-0.9861	9	0.07813	T	0.8	.	3.5145	0.07719	0.6303:0.2287:0.1411:0.0	.	228;228	F5H0M9;Q8TAU3	.;ZN417_HUMAN	S	228;29	ENSP00000311319:I228S;ENSP00000442760:I29S	ENSP00000311319:I228S	I	-	2	0	ZNF417	63112775	0.000000	0.05858	0.001000	0.08648	0.256000	0.26092	-0.515000	0.06290	-0.256000	0.09473	-0.782000	0.03352	ATT	ZNF417	-	NULL		0.418	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	A	NM_152475		58420963	-1	no_errors	ENST00000312026	ensembl	human	known	70_37	missense	SNP	0.000	C	C	58420963	A	C	58420963	3	2	131	1	0	0	0	0	1	0	0	0	17924	101	4	5	1048	5	ZNF417	19	58420963	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	36014	58420963	708020	1866	22006										
ZNF256	10172	genome.wustl.edu	37	chr19	58453782	58453782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctggtgctgatgaaggtAtgcagtaaattgtaattgtt	11	4	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58453782A>G	ENST00000282308.3	-	3	590	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	132					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGATGAAGGTATGCAGTAAAT	0.443																																					NSCLC(55;1313 1552 8040 11996)												0													258	224	235					19																	58453782		2203	4300	6503	SO:0001583	missense	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.394T>C	19.37:g.58453782A>G	ENSP00000282308:p.Tyr132His		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y132H	ENST00000282308.3	37	c.394	CCDS12966.1	19	.	.	.	.	.	.	.	.	.	.	.	11.90	1.777097	0.31411	.	.	ENSG00000152454	ENST00000282308	T	0.27402	1.67	3.35	-4.18	0.03846	.	.	.	.	.	T	0.09423	0.0232	N	0.04355	-0.22	0.09310	N	1	P	0.45902	0.868	B	0.39706	0.307	T	0.15694	-1.0428	9	0.21540	T	0.41	.	1.5066	0.02487	0.1716:0.2321:0.1068:0.4895	.	132	Q9Y2P7	ZN256_HUMAN	H	132	ENSP00000282308:Y132H	ENSP00000282308:Y132H	Y	-	1	0	ZNF256	63145594	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-1.909000	0.01586	-0.701000	0.05063	0.383000	0.25322	TAC	ZNF256	-	NULL		0.443	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1	A			58453782	-1	no_errors	ENST00000282308	ensembl	human	known	70_37	missense	SNP	0.000	G	G	58453782	A	G	58453782	3	3	131	1	0	0	0	0	1	0	0	0	17829	449	16	5	1493	5	ZNF256	19	58453782	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	32819	58453782	675201	1867	22007										
ZNF329	79673	genome.wustl.edu	37	chr19	58640843	58640843	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gggtacttctctctcaggaaAattccgagtcgtcattttca	8	10	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58640843A>C	ENST00000598312.1	-	4	261	c.28T>G	c.(28-30)Ttt>Gtt	p.F10V	ZNF329_ENST00000358067.4_Missense_Mutation_p.F10V	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CTCTCAGGAAAATTCCGAGTC	0.403																																																	0													123	127	126					19																	58640843		2203	4300	6503	SO:0001583	missense	79673			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.28T>G	19.37:g.58640843A>C	ENSP00000470008:p.Phe10Val		B3KR32|Q9H9R7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F10V	ENST00000598312.1	37	c.28	CCDS12972.1	19	.	.	.	.	.	.	.	.	.	.	A	0.279	-0.987365	0.02180	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.05580	3.42;3.42	4.58	-0.116	0.13555	.	0.833678	0.10157	N	0.708824	T	0.02342	0.0072	N	0.03608	-0.345	0.20563	N	0.999884	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	10	0.19590	T	0.45	-2.3945	3.3602	0.07184	0.1928:0.39:0.0:0.4172	.	10	Q86UD4	ZN329_HUMAN	V	10	ENSP00000350773:F10V;ENSP00000439527:F10V	ENSP00000350773:F10V	F	-	1	0	ZNF329	63332655	0.000000	0.05858	0.831000	0.32960	0.032000	0.12392	-0.547000	0.06055	-0.065000	0.13021	-0.275000	0.10095	TTT	ZNF329	-	NULL		0.403	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	A	NM_024620		58640843	-1	no_errors	ENST00000358067	ensembl	human	known	70_37	missense	SNP	0.997	C	C	58640843	A	C	58640843	3	2	131	1	0	0	0	0	1	0	0	0	17877	14	1	5	1601	5	ZNF329	19	58640843	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	187061	58640843	488140	1868	22008										
C20orf96	140680	genome.wustl.edu	37	chr20	257718	257718	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcagaatttttttcttcttCttctgaatcttgtcagacaa	4	9	7	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:257718C>A	ENST00000360321.2	-	8	930	c.792G>T	c.(790-792)aaG>aaT	p.K264N	C20orf96_ENST00000382369.5_Missense_Mutation_p.K229N|C20orf96_ENST00000400269.3_Missense_Mutation_p.K206N	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	264	Poly-Lys.									endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTTTCTTCTTCTTCTGAATCT	0.557																																																	0													136	153	147					20																	257718		2203	4300	6503	SO:0001583	missense	140680			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.792G>T	20.37:g.257718C>A	ENSP00000353470:p.Lys264Asn		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	NULL	p.K264N	ENST00000360321.2	37	c.792	CCDS12994.1	20	.	.	.	.	.	.	.	.	.	.	C	6.992	0.553075	0.13374	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.42900	0.96;0.96;0.96	4.43	1.16	0.20824	.	1.846370	0.02329	N	0.073710	T	0.31104	0.0786	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.24258	0.1;0.1;0.052;0.1	B;B;B;B	0.18871	0.023;0.023;0.012;0.023	T	0.17289	-1.0374	10	0.41790	T	0.15	-1.6625	2.7354	0.05239	0.1969:0.5254:0.1733:0.1044	.	206;229;264;229	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	N	229;264;206	ENSP00000371806:K229N;ENSP00000353470:K264N;ENSP00000383128:K206N	ENSP00000353470:K264N	K	-	3	2	C20orf96	205718	0.491000	0.26019	0.037000	0.18230	0.081000	0.17604	0.740000	0.26188	0.484000	0.27630	0.313000	0.20887	AAG	C20orf96	-	NULL		0.557	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	HGNC	protein_coding	OTTHUMT00000077439.2	C	NM_153269		257718	-1	no_errors	ENST00000360321	ensembl	human	known	70_37	missense	SNP	0.016	A	A	257718	C	A	257718	3	1	131	1	0	0	0	0	1	0	0	0	2127	912	32	3	315	3	C20orf96	20	257718	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		257718	62767802	1869	22009										
PROKR2	128674	genome.wustl.edu	37	chr20	5294961	5294961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagagggaggaggcatggtCttggggtggattaaagttgg	21	2	1	1	rs146062524		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:5294961C>A	ENST00000217270.3	-	1	54	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	PROKR2_ENST00000546004.1_Missense_Mutation_p.D19Y	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	19					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGGCATGGTCTTGGGGTGGA	0.517										HNSCC(71;0.22)																																							0													102	91	95					20																	5294961		2203	4300	6503	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.55G>T	20.37:g.5294961C>A	ENSP00000217270:p.Asp19Tyr		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D19Y	ENST00000217270.3	37	c.55	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440556	0.25900	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.71934	-0.61;-0.61	4.6	3.66	0.41972	.	0.279202	0.33496	N	0.004846	T	0.57592	0.2064	L	0.54323	1.7	0.35161	D	0.770658	B	0.02656	0.0	B	0.04013	0.001	T	0.53947	-0.8366	10	0.02654	T	1	.	8.9515	0.35792	0.0:0.8953:0.0:0.1047	.	19	Q8NFJ6	PKR2_HUMAN	Y	19	ENSP00000440790:D19Y;ENSP00000217270:D19Y	ENSP00000217270:D19Y	D	-	1	0	PROKR2	5242961	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	1.779000	0.38624	1.064000	0.40671	0.655000	0.94253	GAC	PROKR2	-	NULL		0.517	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	C	NM_144773		5294961	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	missense	SNP	0.995	A	A	5294961	C	A	5294961	3	1	131	1	0	0	0	0	1	0	0	0	12580	913	32	3	1106	3	PROKR2	20	5294961	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5037243	5294961	57730559	1870	22010										
MCM8	84515	genome.wustl.edu	37	chr20	5965590	5965590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcgtatgaatagtcaagatTcaaatacttccgtacttgaa	6	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:5965590T>C	ENST00000378896.3	+	15	2274	c.1897T>C	c.(1897-1899)Tca>Cca	p.S633P	MCM8_ENST00000378883.1_Missense_Mutation_p.S586P|MCM8_ENST00000265187.4_Missense_Mutation_p.S617P|MCM8_ENST00000378886.2_Missense_Mutation_p.S673P	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	633					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TAGTCAAGATTCAAATACTTC	0.373																																																	0													97	93	94					20																	5965590		2203	4300	6503	SO:0001583	missense	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1897T>C	20.37:g.5965590T>C	ENSP00000368174:p.Ser633Pro		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.S673P	ENST00000378896.3	37	c.2017	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	T	8.970	0.972734	0.18736	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03094	4.13;4.05;4.13;4.13	5.78	4.69	0.59074	.	0.355498	0.30365	N	0.009799	T	0.05547	0.0146	M	0.64676	1.99	0.39963	D	0.974693	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.11329	0.0;0.006;0.001;0.001	T	0.22941	-1.0202	10	0.31617	T	0.26	-6.8792	9.6631	0.39967	0.0:0.1509:0.0:0.8491	.	586;673;617;633	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	P	633;586;673;617	ENSP00000368174:S633P;ENSP00000368161:S586P;ENSP00000368164:S673P;ENSP00000265187:S617P	ENSP00000265187:S617P	S	+	1	0	MCM8	5913590	0.999000	0.42202	0.994000	0.49952	0.117000	0.20001	1.572000	0.36461	1.129000	0.42072	0.482000	0.46254	TCA	MCM8	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.373	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	T	NM_032485		5965590	1	no_errors	ENST00000378886	ensembl	human	known	70_37	missense	SNP	0.991	C	C	5965590	T	C	5965590	3	2	131	1	0	0	0	0	1	0	0	0	9416	1783	62	5	1951	5	MCM8	20	5965590	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	670629	5965590	57059930	1871	22011										
LRRN4	164312	genome.wustl.edu	37	chr20	6025204	6025204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttacctgcttaggacagttCtctttgcatccgtgaggagc	11	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:6025204C>A	ENST00000378858.4	-	4	1207	c.983G>T	c.(982-984)aGa>aTa	p.R328I		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	328					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TAGGACAGTTCTCTTTGCATC	0.517																																																	0													59	51	54					20																	6025204		2203	4300	6503	SO:0001583	missense	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.983G>T	20.37:g.6025204C>A	ENSP00000368135:p.Arg328Ile		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R328I	ENST00000378858.4	37	c.983	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282686	0.59867	.	.	ENSG00000125872	ENST00000378858	T	0.60424	0.19	5.65	-0.452	0.12205	Cysteine-rich flanking region, C-terminal (1);	0.534254	0.19358	N	0.116203	T	0.50888	0.1642	M	0.64170	1.965	0.09310	N	0.999997	P	0.52842	0.956	P	0.45310	0.476	T	0.47407	-0.9120	10	0.56958	D	0.05	-2.9312	5.6327	0.17520	0.0:0.3754:0.1407:0.4839	.	328	Q8WUT4	LRRN4_HUMAN	I	328	ENSP00000368135:R328I	ENSP00000368135:R328I	R	-	2	0	LRRN4	5973204	0.064000	0.20934	0.017000	0.16124	0.740000	0.42216	-0.170000	0.09897	0.040000	0.15660	0.591000	0.81541	AGA	LRRN4	-	NULL		0.517	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	C	NM_152611		6025204	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	missense	SNP	0.014	A	A	6025204	C	A	6025204	3	1	131	1	0	0	0	0	1	0	0	0	9060	913	32	3	1247	3	LRRN4	20	6025204	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	59614	6025204	57000316	1872	22012										
PLCB1	23236	genome.wustl.edu	37	chr20	8713980	8713980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaggaggcctgacaagcatTttgatccatttactgaaggc	11	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:8713980T>G	ENST00000338037.6	+	19	2011	c.1984T>G	c.(1984-1986)Ttt>Gtt	p.F662V	PLCB1_ENST00000378641.3_Missense_Mutation_p.F662V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.F662V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	662					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACAAGCATTTTGATCCATT	0.423																																																	0													154	134	140					20																	8713980		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1984T>G	20.37:g.8713980T>G	ENSP00000338185:p.Phe662Val		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F662V	ENST00000338037.6	37	c.1984	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730186	0.89390	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061	T;T;T	0.25414	1.81;1.8;1.81	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	H	0.94620	3.56	0.58432	D	0.999998	B;D	0.89917	0.332;1.0	B;D	0.97110	0.267;1.0	T	0.75039	-0.3458	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	662;662	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	V	662;662;662;582;582;8	ENSP00000367908:F662V;ENSP00000338185:F662V;ENSP00000367904:F662V	ENSP00000338185:F662V	F	+	1	0	PLCB1	8661980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.975000	0.88055	2.047000	0.60756	0.491000	0.48974	TTT	PLCB1	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	T			8713980	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8713980	T	G	8713980	3	3	131	1	0	0	0	0	1	0	0	0	12051	1841	64	5	2058	5	PLCB1	20	8713980	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2688776	8713980	54311540	1873	22013										
PLCB4	5332	genome.wustl.edu	37	chr20	9438100	9438100	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgaaaaaagaaacagaaatCaaaattcagacgctgacatc	6	7	2	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:9438100C>A	ENST00000378493.1	+	30	3015	c.3000C>A	c.(2998-3000)atC>atA	p.I1000I	PLCB4_ENST00000378501.2_Silent_p.I1000I|PLCB4_ENST00000378473.3_Silent_p.I1012I|PLCB4_ENST00000414679.2_Silent_p.I1012I|PLCB4_ENST00000334005.3_Silent_p.I1000I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.I1000I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1000					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAACAGAAATCAAAATTCAGA	0.358																																																	0													67	68	67					20																	9438100		2203	4300	6503	SO:0001819	synonymous_variant	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3000C>A	20.37:g.9438100C>A			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I1000	ENST00000378493.1	37	c.3000	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta		0.358	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	C			9438100	1	no_errors	ENST00000334005	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9438100	C	A	9438100	2	1	131	1	0	0	0	0	0	0	0	1	12054	816	29	3		3	PLCB4	20	9438100	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	724120	9438100	53587420	1874	22014										
JAG1	182	genome.wustl.edu	37	chr20	10639163	10639163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttccatgcaagttttgttgCcattctggtcacaggcatag	9	10	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:10639163C>T	ENST00000254958.5	-	4	1162	c.647G>A	c.(646-648)gGc>gAc	p.G216D	JAG1_ENST00000423891.2_Missense_Mutation_p.G57D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	216	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGTTTTGTTGCCATTCTGGTC	0.498									Alagille Syndrome																																								0													126	119	122					20																	10639163		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.647G>A	20.37:g.10639163C>T	ENSP00000254958:p.Gly216Asp		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.G216D	ENST00000254958.5	37	c.647	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.232843	0.95207	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.99511	-6.05;-6.05	5.58	5.58	0.84498	Delta/Serrate/lag-2 (DSL) protein (3);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97521	1.0073	10	0.62326	D	0.03	.	19.5701	0.95409	0.0:1.0:0.0:0.0	.	216	P78504	JAG1_HUMAN	D	216;57	ENSP00000254958:G216D;ENSP00000389519:G57D	ENSP00000254958:G216D	G	-	2	0	JAG1	10587163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.629000	0.89072	0.563000	0.77884	GGC	JAG1	-	pfam_DSL,smart_DSL,pfscan_DSL		0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		C	NM_000214		10639163	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10639163	C	T	10639163	3	4	131	1	0	0	0	0	1	0	0	0	7954	739	26	4	3101	4	JAG1	20	10639163	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1201063	10639163	52386357	1875	22015										
OVOL2	58495	genome.wustl.edu	37	chr20	18038267	18038267	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcctcctcttcaccaggaaGactttgggcatggtggggtc	12	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:18038267G>T	ENST00000278780.6	-	1	254	c.12C>A	c.(10-12)gtC>gtA	p.V4V	RP4-726N1.2_ENST00000429853.1_RNA|OVOL2_ENST00000483661.1_Intron	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	4					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TCACCAGGAAGACTTTGGGCA	0.706																																																	0													34	30	31					20																	18038267		2201	4296	6497	SO:0001819	synonymous_variant	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.12C>A	20.37:g.18038267G>T			Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V4	ENST00000278780.6	37	c.12	CCDS13132.1	20																																																																																			OVOL2	-	NULL		0.706	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5	G	NM_021220		18038267	-1	no_errors	ENST00000278780	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18038267	G	T	18038267	2	4	131	1	0	0	0	0	0	0	0	1	11351	929	33	3		3	OVOL2	20	18038267	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7399104	18038267	44987253	1876	22016										
CSRP2BP	57325	genome.wustl.edu	37	chr20	18123370	18123370	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgaagccacgagaacatcGacctcagaaggactggagga	13	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:18123370G>A	ENST00000435364.3	+	1	407	c.66G>A	c.(64-66)tcG>tcA	p.S22S	PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000377681.3_Silent_p.S22S|CSRP2BP_ENST00000489634.2_5'Flank	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	22					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGAGAACATCGACCTCAGAAG	0.542																																																	0													141	104	116					20																	18123370		2203	4300	6503	SO:0001819	synonymous_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.66G>A	20.37:g.18123370G>A			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S22	ENST00000435364.3	37	c.66	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL		0.542	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	G	NM_020536		18123370	1	no_errors	ENST00000278816	ensembl	human	known	70_37	silent	SNP	0.098	A	A	18123370	G	A	18123370	2	1	131	1	0	0	0	0	0	0	0	1	3973	1045	37	1		1	CSRP2BP	20	18123370	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	85103	18123370	44902150	1877	22017										
E2F1	1869	genome.wustl.edu	37	chr20	32264972	32264972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agggatgaggggggagatgaTggtggtggtgacactatggt	21	2	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:32264972T>C	ENST00000343380.5	-	6	1144	c.1005A>G	c.(1003-1005)ccA>ccG	p.P335P	NECAB3_ENST00000246190.6_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000375238.4_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	335	Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GGGGAGATGATGGTGGTGGTG	0.627																																																	0													138	119	125					20																	32264972		2203	4300	6503	SO:0001819	synonymous_variant	1869				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1005A>G	20.37:g.32264972T>C			Q13143|Q92768	Silent	SNP	pfam_E2F_TDP	p.P335	ENST00000343380.5	37	c.1005	CCDS13224.1	20																																																																																			E2F1	-	NULL		0.627	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	T			32264972	-1	no_errors	ENST00000343380	ensembl	human	known	70_37	silent	SNP	0.562	C	C	32264972	T	C	32264972	2	2	131	1	0	0	0	0	0	0	0	1	4876	1451	51	5		5	E2F1	20	32264972	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	14141602	32264972	30760548	1878	22018										
C20orf152	140894	genome.wustl.edu	37	chr20	34572030	34572030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccttcctagatccccacccGaaattgctgcacaagggtag	9	14	0	1	rs368014098		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:34572030G>A	ENST00000373973.3	+	5	707	c.534G>A	c.(532-534)ccG>ccA	p.P178P	CNBD2_ENST00000349339.1_Silent_p.P178P|CNBD2_ENST00000538900.1_Silent_p.P178P			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	178																	ATCCCCACCCGAAATTGCTGC	0.547																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	95	79	84		534,534	-10.9	0	20		84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C20orf152	NM_001207076.1,NM_080834.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	178/424,178/573	34572030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.534G>A	20.37:g.34572030G>A			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P178	ENST00000373973.3	37	c.534		20																																																																																			CNBD2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.547	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34572030	1	no_errors	ENST00000373973	ensembl	human	known	70_37	silent	SNP	0.000	A	A	34572030	G	A	34572030	2	1	131	1	0	0	0	0	0	0	0	1	2097	1045	37	1		1	C20orf152	20	34572030	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2307058	34572030	28453490	1879	22019										
EPB41L1	2036	genome.wustl.edu	37	chr20	34810275	34810275	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaaagctgtcgtatacagaGaaacagacccatccccagag	8	13	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:34810275G>T	ENST00000338074.2	+	21	2757	c.2596G>T	c.(2596-2598)Gaa>Taa	p.E866*	EPB41L1_ENST00000202028.5_Nonsense_Mutation_p.E764*|EPB41L1_ENST00000373946.3_Nonsense_Mutation_p.E686*|EPB41L1_ENST00000373950.2_Nonsense_Mutation_p.E757*|EPB41L1_ENST00000441639.1_Nonsense_Mutation_p.E764*|EPB41L1_ENST00000373941.1_Nonsense_Mutation_p.E865*	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	866	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGTATACAGAGAAACAGACCC	0.537																																																	0													102	95	98					20																	34810275		2203	4300	6503	SO:0001587	stop_gained	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2596G>T	20.37:g.34810275G>T	ENSP00000337168:p.Glu866*		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Nonsense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E866*	ENST00000338074.2	37	c.2596	CCDS13271.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.89|18.89	3.719337|3.719337	0.68844|0.68844	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000432603|ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	.|.	.|.	.|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	.|.	.|.	.|.	.|.	T|.	0.76219|.	0.3957|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79885|.	-0.1614|.	4|.	.|0.72032	.|D	.|0.01	.|.	16.6051|16.6051	0.84826|0.84826	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	103|764;757;757;764;686;866;865	.|.	.|ENSP00000202028:E764X	E|E	+|+	3|1	2|0	EPB41L1|EPB41L1	34273689|34273689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.456000|7.456000	0.80751|0.80751	2.401000|2.401000	0.81631|0.81631	0.462000|0.462000	0.41574|0.41574	GAG|GAA	EPB41L1	-	pfam_Band_4.1_C,pirsf_Band_41_protein		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	G	NM_012156		34810275	1	no_errors	ENST00000338074	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	34810275	G	T	34810275	4	4	131	1	0	0	0	0	0	1	0	0	5164	943	33	3	2674	3	EPB41L1	20	34810275	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	238245	34810275	28215245	1880	22020										
C20orf111	51526	genome.wustl.edu	37	chr20	42825852	42825852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagagttctggcgtgcagcGactgagagtagtcctcaagt	13	9	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:42825852G>A	ENST00000372970.2	-	6	899	c.719C>T	c.(718-720)tCg>tTg	p.S240L	OSER1_ENST00000255174.2_Missense_Mutation_p.S240L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	240					cellular response to hydrogen peroxide (GO:0070301)												GGCGTGCAGCGACTGAGAGTA	0.527																																																	0													125	108	114					20																	42825852		2203	4300	6503	SO:0001583	missense	51526			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.719C>T	20.37:g.42825852G>A	ENSP00000362061:p.Ser240Leu		B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	pfam_DUF776	p.S240L	ENST00000372970.2	37	c.719	CCDS13327.1	20	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133152	0.56828	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.50277	0.75;0.75	6.17	6.17	0.99709	.	0.184025	0.46758	D	0.000267	T	0.33818	0.0876	N	0.24115	0.695	0.41148	D	0.986005	P	0.41710	0.76	B	0.25614	0.062	T	0.35549	-0.9784	10	0.72032	D	0.01	-4.7149	20.8794	0.99867	0.0:0.0:1.0:0.0	.	240	Q9NX31	CT111_HUMAN	L	240	ENSP00000255174:S240L;ENSP00000362061:S240L	ENSP00000255174:S240L	S	-	2	0	C20orf111	42259266	0.999000	0.42202	0.998000	0.56505	0.814000	0.46013	2.825000	0.48096	2.941000	0.99782	0.655000	0.94253	TCG	C20orf111	-	NULL		0.527	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf111	HGNC	protein_coding	OTTHUMT00000079334.2	G	NM_016470		42825852	-1	no_errors	ENST00000255174	ensembl	human	known	70_37	missense	SNP	0.998	A	A	42825852	G	A	42825852	3	1	131	1	0	0	0	0	1	0	0	0	2085	1059	37	1	163	1	C20orf111	20	42825852	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8015577	42825852	20199668	1881	22021										
HNF4A	3172	genome.wustl.edu	37	chr20	43057043	43057043	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgatgcaggaacatatgggaAccaacgtcatcgttgccaac	10	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:43057043A>G	ENST00000316099.4	+	9	1287	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	HNF4A_ENST00000316673.4_Missense_Mutation_p.T378A|HNF4A_ENST00000457232.1_Missense_Mutation_p.T378A|HNF4A_ENST00000415691.2_Missense_Mutation_p.T400A	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	400					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACATATGGGAACCAACGTCAT	0.607																																					Colon(79;2 1269 8820 14841 52347)												0													119	85	97					20																	43057043		2203	4300	6503	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1198A>G	20.37:g.43057043A>G	ENSP00000312987:p.Thr400Ala		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.T400A	ENST00000316099.4	37	c.1198	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390950	0.42410	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.93	4.77	0.60923	.	0.598092	0.18057	N	0.153063	T	0.58764	0.2145	L	0.44542	1.39	0.39055	D	0.960403	B;B;B;B;B	0.21753	0.004;0.033;0.033;0.06;0.004	B;B;B;B;B	0.23275	0.005;0.028;0.045;0.028;0.013	T	0.57619	-0.7780	10	0.33940	T	0.23	.	12.8733	0.57977	0.8643:0.1357:0.0:0.0	.	393;400;400;378;378	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	A	378;378;400;430;400	ENSP00000315180:T378A;ENSP00000396216:T378A;ENSP00000312987:T400A;ENSP00000412111:T400A	ENSP00000312987:T400A	T	+	1	0	HNF4A	42490457	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	5.027000	0.64109	2.270000	0.75569	0.460000	0.39030	ACC	HNF4A	-	NULL		0.607	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	A			43057043	1	no_errors	ENST00000316099	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43057043	A	G	43057043	3	3	131	1	0	0	0	0	1	0	0	0	7273	43	2	5	1410	5	HNF4A	20	43057043	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	231191	43057043	19968477	1882	22022										
KCNS1	3787	genome.wustl.edu	37	chr20	43726587	43726587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaggcgatgcagaagtactCgaggcgtcgcagcaccgggt	15	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:43726587C>T	ENST00000306117.1	-	4	1222	c.826G>A	c.(826-828)Gag>Aag	p.E276K	KCNS1_ENST00000537075.1_Missense_Mutation_p.E276K	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	276					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAGAAGTACTCGAGGCGTCGC	0.716																																																	0													22	20	21					20																	43726587		2187	4282	6469	SO:0001583	missense	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.826G>A	20.37:g.43726587C>T	ENSP00000307694:p.Glu276Lys		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.E276K	ENST00000306117.1	37	c.826	CCDS13342.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.536300	0.96460	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.97976	-4.64;-4.64	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.95328	3.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.99177	1.0866	10	0.87932	D	0	.	18.5456	0.91045	0.0:1.0:0.0:0.0	.	276	Q96KK3	KCNS1_HUMAN	K	276	ENSP00000307694:E276K;ENSP00000445595:E276K	ENSP00000307694:E276K	E	-	1	0	KCNS1	43160001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.383000	0.81215	0.561000	0.74099	GAG	KCNS1	-	pfam_Ion_trans_dom,prints_K_chnl		0.716	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	C	NM_002251		43726587	-1	no_errors	ENST00000306117	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43726587	C	T	43726587	3	4	131	1	0	0	0	0	1	0	0	0	8108	893	31	1	762	1	KCNS1	20	43726587	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	669544	43726587	19298933	1883	22023										
SPINLW1	57119	genome.wustl.edu	37	chr20	44175982	44175982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcaccaggaggctcaaaagTccagaagatcccatgttgaa	10	10	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:44175982T>C	ENST00000354280.4	-	1	81	c.15A>G	c.(13-15)ggA>ggG	p.G5G	EPPIN_ENST00000336443.3_5'Flank|EPPIN-WFDC6_ENST00000504988.1_Silent_p.G5G|EPPIN_ENST00000409554.1_Silent_p.G5G|EPPIN_ENST00000555685.1_Silent_p.G5G	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	5					defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGCTCAAAAGTCCAGAAGATC	0.502																																																	0													83	74	77					20																	44175982		2203	4300	6503	SO:0001819	synonymous_variant	57119			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"WAP four-disulfide core domain containing"	15932	protein-coding gene	gene with protein product	"epididymal protease inhibitor", "cancer/testis antigen 72"	609031	"serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)", "serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.15A>G	20.37:g.44175982T>C			A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Whey_acidic_protein_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G5	ENST00000354280.4	37	c.15	CCDS13359.1	20																																																																																			EPPIN	-	NULL		0.502	EPPIN-001	KNOWN	basic|CCDS	protein_coding	EPPIN	HGNC	protein_coding	OTTHUMT00000079467.4	T			44175982	-1	no_errors	ENST00000555685	ensembl	human	known	70_37	silent	SNP	0.008	C	C	44175982	T	C	44175982	2	2	131	1	0	0	0	0	0	0	0	1	15097	1654	58	5		5	SPINLW1	20	44175982	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	449395	44175982	18849538	1884	22024										
PCIF1	63935	genome.wustl.edu	37	chr20	44569771	44569771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtgctgcccccgcatcccGaagtggaactgctccgctct	11	16	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:44569771G>A	ENST00000372409.3	+	7	962	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	200					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCCGCATCCCGAAGTGGAACT	0.627																																																	0													48	45	46					20																	44569771		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.598G>A	20.37:g.44569771G>A	ENSP00000361486:p.Glu200Lys		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E200K	ENST00000372409.3	37	c.598	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273245	0.80580	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.050529	0.85682	D	0.000000	T	0.78886	0.4354	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.81611	-0.0854	9	0.72032	D	0.01	-9.5315	17.4916	0.87705	0.0:0.0:1.0:0.0	.	200	Q9H4Z3	PCIF1_HUMAN	K	200	.	ENSP00000361486:E200K	E	+	1	0	PCIF1	44003178	1.000000	0.71417	0.864000	0.33941	0.235000	0.25334	9.473000	0.97714	2.606000	0.88127	0.655000	0.94253	GAA	PCIF1	-	NULL		0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	G	NM_022104		44569771	1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44569771	G	A	44569771	3	1	131	1	0	0	0	0	1	0	0	0	11604	1059	37	1	616	1	PCIF1	20	44569771	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	393789	44569771	18455749	1885	22025										
ZMYND8	23613	genome.wustl.edu	37	chr20	45855964	45855964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acctaagttgtgtttcatttCggagagctcttgctggtgca	11	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:45855964C>T	ENST00000311275.7	-	18	3191	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	ZMYND8_ENST00000458360.2_Missense_Mutation_p.E848K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E980K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E929K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E871K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E902K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E1007K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E928K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E1000K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E954K|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E934K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E954K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E980K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	980					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTTTCATTTCGGAGAGCTCT	0.512																																																	0													186	152	163					20																	45855964		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2938G>A	20.37:g.45855964C>T	ENSP00000312237:p.Glu980Lys		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.E1007K	ENST00000311275.7	37	c.3019		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632900|4.632900	0.87660|0.87660	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T|.	0.75477|.	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;0.4;-0.94|.	5.74|5.74	4.8|4.8	0.61643|0.61643	.|.	0.048659|.	0.85682|.	N|.	0.000000|.	T|T	0.72953|0.72953	0.3525|0.3525	M|M	0.72353|0.72353	2.195|2.195	0.53005|0.53005	D|D	0.999963|0.999963	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.036;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;0.999;1.0;0.999|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.008;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.98;0.972;0.991;0.995|.	T|T	0.73458|0.73458	-0.3976|-0.3976	10|5	0.49607|.	T|.	0.09|.	-21.9244|-21.9244	14.7152|14.7152	0.69262|0.69262	0.0:0.9307:0.0:0.0693|0.0:0.9307:0.0:0.0693	.|.	848;1007;902;909;1000;934;929;954;954;980;871;929;928;873;882;980|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	K|Q	929;980;848;935;1001;954;980;1007;980;871;954;902;928|861	ENSP00000354166:E929K;ENSP00000312237:E980K;ENSP00000392964:E848K;ENSP00000335537:E954K;ENSP00000379577:E980K;ENSP00000439800:E1007K;ENSP00000348246:E980K;ENSP00000396725:E871K;ENSP00000418210:E954K;ENSP00000361093:E902K;ENSP00000443086:E928K|.	ENSP00000262975:E935K|.	E|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45289371|45289371	1.000000|1.000000	0.71417|0.71417	0.698000|0.698000	0.30274|0.30274	0.978000|0.978000	0.69477|0.69477	7.770000|7.770000	0.85390|0.85390	1.434000|1.434000	0.47414|0.47414	0.585000|0.585000	0.79938|0.79938	GAA|CGA	ZMYND8	-	NULL		0.512	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45855964	-1	no_errors	ENST00000536340	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45855964	C	T	45855964	3	4	131	1	0	0	0	0	1	0	0	0	17741	893	31	1	730	1	ZMYND8	20	45855964	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1286193	45855964	17169556	1886	22026										
PREX1	57580	genome.wustl.edu	37	chr20	47444178	47444178	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagctcccgagcgacactcaCcgactgcaagaagcgcaagg	11	14	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:47444178C>T	ENST00000371941.3	-	1	242		c.e1+1		PREX1_ENST00000396220.1_Splice_Site	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGACACTCACCGACTGCAAG	0.677																																																	0													12	15	14					20																	47444178		2189	4288	6477	SO:0001630	splice_region_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.219+1G>A	20.37:g.47444178C>T			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP	-	e1+1	ENST00000371941.3	37	c.219+1	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064201	0.36373	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6761	0.68981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREX1	46877585	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	5.070000	0.64376	1.781000	0.52344	0.205000	0.17691	.	PREX1	-	-		0.677	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820	Intron	47444178	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	47444178	C	T	47444178	5	4	131	1	0	0	0	0	0	0	1	0	12503	521	18	4	4919	4	PREX1	20	47444178	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1588214	47444178	15581342	1887	22027										
PTPN1	5770	genome.wustl.edu	37	chr20	49191165	49191165	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaagtcatattatacagtgCgacagctagaattggaaaac	8	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49191165C>T	ENST00000371621.3	+	5	640	c.466C>T	c.(466-468)Cga>Tga	p.R156*	PTPN1_ENST00000541713.1_Nonsense_Mutation_p.R83*|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	156	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	ttatacagtgcgacagctaga	0.388																																																	0													116	114	115					20																	49191165		2203	4300	6503	SO:0001587	stop_gained	5770				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.466C>T	20.37:g.49191165C>T	ENSP00000360683:p.Arg156*		Q5TGD8|Q9BQV9|Q9NQQ4	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R156*	ENST00000371621.3	37	c.466	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.094381	0.97276	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	.	.	.	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0368	0.89307	0.0:1.0:0.0:0.0	.	.	.	.	X	156;83	.	ENSP00000360683:R156X	R	+	1	2	PTPN1	48624572	0.998000	0.40836	0.923000	0.36655	0.535000	0.34838	2.093000	0.41710	2.676000	0.91093	0.561000	0.74099	CGA	PTPN1	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr_Pase_rcpt/non-rcpt		0.388	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	C			49191165	1	no_errors	ENST00000371621	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49191165	C	T	49191165	4	4	131	1	0	0	0	0	0	1	0	0	12807	760	27	2	484	2	PTPN1	20	49191165	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1746987	49191165	13834355	1888	22028										
PARD6B	84612	genome.wustl.edu	37	chr20	49366912	49366912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctggacagaatggctttattCcctctaatgaagtgagctta	9	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49366912C>T	ENST00000371610.2	+	3	1249	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	336					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGGCTTTATTCCCTCTAATGA	0.423																																																	0													84	79	81					20																	49366912		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1006C>T	20.37:g.49366912C>T	ENSP00000360672:p.Pro336Ser		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.P336S	ENST00000371610.2	37	c.1006	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015687	0.19355	.	.	ENSG00000124171	ENST00000371610	T	0.14022	2.54	5.73	3.81	0.43845	.	0.177647	0.50627	D	0.000109	T	0.11110	0.0271	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06356	-1.0831	10	0.62326	D	0.03	-19.8414	10.1298	0.42672	0.0:0.7904:0.0:0.2096	.	336	Q9BYG5	PAR6B_HUMAN	S	336	ENSP00000360672:P336S	ENSP00000360672:P336S	P	+	1	0	PARD6B	48800319	0.999000	0.42202	0.365000	0.25901	0.094000	0.18550	1.331000	0.33793	1.438000	0.47492	0.591000	0.81541	CCC	PARD6B	-	NULL		0.423	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2	C	NM_032521		49366912	1	no_errors	ENST00000371610	ensembl	human	known	70_37	missense	SNP	0.977	T	T	49366912	C	T	49366912	3	4	131	1	0	0	0	0	1	0	0	0	11470	855	30	1	1016	1	PARD6B	20	49366912	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	175747	49366912	13658608	1889	22029										
ADNP	23394	genome.wustl.edu	37	chr20	49510335	49510335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggctttggtattgagagtcGattcaccatctgctgtgatg	12	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49510335G>A	ENST00000396029.3	-	5	1483	c.916C>T	c.(916-918)Cga>Tga	p.R306*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R306*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R306*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R306*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	306					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATTGAGAGTCGATTCACCATC	0.463																																																	0													148	126	133					20																	49510335		2203	4300	6503	SO:0001587	stop_gained	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.916C>T	20.37:g.49510335G>A	ENSP00000379346:p.Arg306*		E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R306*	ENST00000396029.3	37	c.916	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	G	40	8.055594	0.98632	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	3.94	0.45596	.	0.121052	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-23.4126	9.5947	0.39567	0.0677:0.0:0.6655:0.2668	.	.	.	.	X	306	.	ENSP00000342905:R306X	R	-	1	2	ADNP	48943742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.982000	0.40638	0.821000	0.34540	0.655000	0.94253	CGA	ADNP	-	NULL		0.463	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	G	NM_181442		49510335	-1	no_errors	ENST00000349014	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49510335	G	A	49510335	4	1	131	1	0	0	0	0	0	1	0	0	323	1066	37	1	2396	1	ADNP	20	49510335	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	143423	49510335	13515185	1890	22030										
KCNG1	3755	genome.wustl.edu	37	chr20	49620923	49620923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctgtcggccatctcgttctCgatgacgtagagcaggggcg	15	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49620923C>T	ENST00000371571.4	-	3	1480	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	399					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATCTCGTTCTCGATGACGTAG	0.667																																																	0													42	41	41					20																	49620923		2203	4300	6503	SO:0001583	missense	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1195G>A	20.37:g.49620923C>T	ENSP00000360626:p.Glu399Lys		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.E399K	ENST00000371571.4	37	c.1195	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764343	0.89932	.	.	ENSG00000026559	ENST00000371571	D	0.98717	-5.09	5.49	5.49	0.81192	Ion transport (1);	0.045124	0.85682	D	0.000000	D	0.99521	0.9829	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	399	Q9UIX4	KCNG1_HUMAN	K	399	ENSP00000360626:E399K	.	E	-	1	0	KCNG1	49054330	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.773000	0.85462	2.578000	0.87016	0.462000	0.41574	GAG	KCNG1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.667	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	C	NM_002237		49620923	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49620923	C	T	49620923	3	4	131	1	0	0	0	0	1	0	0	0	8047	893	31	1	350	1	KCNG1	20	49620923	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	110588	49620923	13404597	1891	22031										
NFATC2	4773	genome.wustl.edu	37	chr20	50092153	50092153	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgctcatcagctgtcccaatGaagatctgaagtcccagagg	10	12	3	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:50092153G>T	ENST00000396009.3	-	4	1596	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	NFATC2_ENST00000609507.1_Missense_Mutation_p.F240L|NFATC2_ENST00000414705.1_Missense_Mutation_p.F439L|NFATC2_ENST00000609943.1_Missense_Mutation_p.F439L|NFATC2_ENST00000371564.3_Missense_Mutation_p.F459L|NFATC2_ENST00000610033.1_Missense_Mutation_p.F240L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	459	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGTCCCAATGAAGATCTGAA	0.517																																																	0													115	105	109					20																	50092153		2203	4300	6503	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1377C>A	20.37:g.50092153G>T	ENSP00000379330:p.Phe459Leu		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.F459L	ENST00000396009.3	37	c.1377	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822924	0.90873	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.47869	0.83;0.83;0.83	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.992;0.994;0.992;0.992	T	0.77349	-0.2621	10	0.87932	D	0	-23.4119	18.8809	0.92356	0.0:0.0:1.0:0.0	.	439;439;459;459	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	459;459;240;439	ENSP00000360619:F459L;ENSP00000379330:F459L;ENSP00000396471:F439L	ENSP00000360619:F459L	F	-	3	2	NFATC2	49525560	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.640000	0.67875	2.448000	0.82819	0.650000	0.86243	TTC	NFATC2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.517	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	G	NM_012340		50092153	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50092153	G	T	50092153	3	4	131	1	0	0	0	0	1	0	0	0	10386	1281	45	3	1476	3	NFATC2	20	50092153	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	471230	50092153	12933367	1892	22032										
TSHZ2	128553	genome.wustl.edu	37	chr20	51871025	51871025	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacaggatcttttgcagattCtttttcttctcagaagaacg	7	9	4	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:51871025C>A	ENST00000371497.5	+	2	1915	c.1028C>A	c.(1027-1029)tCt>tAt	p.S343Y	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S340Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S340Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	343					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTTGCAGATTCTTTTTCTTCT	0.498																																																	0													78	86	84					20																	51871025		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1028C>A	20.37:g.51871025C>A	ENSP00000360552:p.Ser343Tyr		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S343Y	ENST00000371497.5	37	c.1028	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	C	3.668	-0.068165	0.07228	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15834	2.4;2.39	5.56	5.56	0.83823	.	0.414066	0.27198	N	0.020480	T	0.08980	0.0222	N	0.03154	-0.405	0.29073	N	0.883195	B	0.02656	0.0	B	0.01281	0.0	T	0.12451	-1.0547	10	0.40728	T	0.16	-4.1475	14.3683	0.66820	0.1479:0.8521:0.0:0.0	.	343	Q9NRE2	TSH2_HUMAN	Y	343;340	ENSP00000360552:S343Y;ENSP00000333114:S340Y	ENSP00000333114:S340Y	S	+	2	0	TSHZ2	51304432	0.058000	0.20735	0.246000	0.24233	0.076000	0.17211	3.546000	0.53656	2.617000	0.88574	0.643000	0.83706	TCT	TSHZ2	-	NULL		0.498	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	C	NM_173485		51871025	1	no_errors	ENST00000371497	ensembl	human	known	70_37	missense	SNP	0.449	A	A	51871025	C	A	51871025	3	1	131	1	0	0	0	0	1	0	0	0	16655	913	32	3	1034	3	TSHZ2	20	51871025	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1778872	51871025	11154495	1893	22033										
SYCP2	10388	genome.wustl.edu	37	chr20	58489189	58489189	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaattcagagtccttaattCttttaaatgccttagcaata	4	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:58489189C>A	ENST00000357552.3	-	11	977	c.752G>T	c.(751-753)aGa>aTa	p.R251I	SYCP2_ENST00000371001.2_Missense_Mutation_p.R251I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	251					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.R251I(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCCTTAATTCTTTTAAATGC	0.284																																																	1	Substitution - Missense(1)	large_intestine(1)											70	70	70					20																	58489189		2201	4295	6496	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.752G>T	20.37:g.58489189C>A	ENSP00000350162:p.Arg251Ile		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.R251I	ENST00000357552.3	37	c.752	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068819	0.36470	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04083	3.71;3.71;3.71	4.78	-3.17	0.05202	.	1.077370	0.07089	N	0.838392	T	0.03564	0.0102	N	0.22421	0.69	0.30609	N	0.759717	B;P	0.45348	0.34;0.856	B;B	0.37198	0.178;0.243	T	0.43393	-0.9394	10	0.56958	D	0.05	-0.1757	10.4843	0.44713	0.0:0.5106:0.0:0.4894	.	251;251	A2A341;Q9BX26	.;SYCP2_HUMAN	I	251	ENSP00000360040:R251I;ENSP00000350162:R251I;ENSP00000402456:R251I	ENSP00000350162:R251I	R	-	2	0	SYCP2	57922584	0.262000	0.24073	0.924000	0.36721	0.760000	0.43138	-0.072000	0.11486	-0.559000	0.06110	-0.136000	0.14681	AGA	SYCP2	-	NULL		0.284	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58489189	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	0.924	A	A	58489189	C	A	58489189	3	1	131	1	0	0	0	0	1	0	0	0	15462	913	32	3	3980	3	SYCP2	20	58489189	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	6618164	58489189	4536331	1894	22034										
CDH26	60437	genome.wustl.edu	37	chr20	58559720	58559720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctatttttcagatgttagcaGtcgatttggatgaagaaaac	9	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:58559720G>T	ENST00000244047.5	+	6	879	c.568G>T	c.(568-570)Gtc>Ttc	p.V190F	CDH26_ENST00000348616.4_Missense_Mutation_p.V190F			Q8IXH8	CAD26_HUMAN	cadherin 26	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATGTTAGCAGTCGATTTGGA	0.353																																																	0													99	104	102					20																	58559720		2203	4300	6503	SO:0001583	missense	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.568G>T	20.37:g.58559720G>T	ENSP00000244047:p.Val190Phe		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V190F	ENST00000244047.5	37	c.568		20	.	.	.	.	.	.	.	.	.	.	G	7.505	0.653432	0.14580	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.52754	0.65;0.65	4.43	2.41	0.29592	.	0.355236	0.25288	N	0.031743	T	0.32556	0.0833	L	0.28504	0.86	0.09310	N	1	B	0.31174	0.311	B	0.35899	0.213	T	0.24154	-1.0168	10	0.56958	D	0.05	.	3.2428	0.06787	0.0982:0.1721:0.5526:0.1771	.	190	Q8IXH8-4	.	F	190	ENSP00000244047:V190F;ENSP00000339390:V190F	ENSP00000244047:V190F	V	+	1	0	CDH26	57993115	0.638000	0.27225	0.012000	0.15200	0.878000	0.50629	0.437000	0.21543	0.294000	0.22547	0.655000	0.94253	GTC	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.353	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		G	NM_177980		58559720	1	no_errors	ENST00000244047	ensembl	human	known	70_37	missense	SNP	0.105	T	T	58559720	G	T	58559720	3	4	131	1	0	0	0	0	1	0	0	0	3115	1029	36	4	590	4	CDH26	20	58559720	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	70531	58559720	4465800	1895	22035										
SLCO4A1	28231	genome.wustl.edu	37	chr20	61299485	61299485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctggttttcatattcgttgTaattttctttacattcctca	4	8	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:61299485T>C	ENST00000370507.1	+	8	1856	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.V587A|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	587					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ATATTCGTTGTAATTTTCTTT	0.493											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)												0													154	151	152					20																	61299485		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1760T>C	20.37:g.61299485T>C	ENSP00000359538:p.Val587Ala	1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V587A	ENST00000370507.1	37	c.1760	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	T	13.76	2.334714	0.41297	.	.	ENSG00000101187	ENST00000217159;ENST00000370507;ENST00000342674	T;T	0.58060	0.36;0.36	4.94	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.266460	0.01611	N	0.022521	T	0.44850	0.1313	L	0.28400	0.85	0.39137	D	0.96196	B	0.09022	0.002	B	0.10450	0.005	T	0.14008	-1.0488	10	0.21540	T	0.41	.	9.9573	0.41675	0.0:0.0808:0.0:0.9192	.	587	Q96BD0	SO4A1_HUMAN	A	587;587;439	ENSP00000217159:V587A;ENSP00000359538:V587A	ENSP00000217159:V587A	V	+	2	0	SLCO4A1	60769930	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.325000	0.65869	1.840000	0.53500	0.402000	0.26972	GTA	SLCO4A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.493	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	T	NM_016354		61299485	1	no_errors	ENST00000217159	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61299485	T	C	61299485	3	2	131	1	0	0	0	0	1	0	0	0	14759	1638	57	5	1790	5	SLCO4A1	20	61299485	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2739765	61299485	1726035	1896	22036										
KCNQ2	3785	genome.wustl.edu	37	chr20	62071029	62071029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccgttccaggtctgggggtaCttgtccccgtagccaatggt	13	12	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:62071029C>A	ENST00000359125.2	-	6	1023	c.849G>T	c.(847-849)aaG>aaT	p.K283N	KCNQ2_ENST00000357249.2_Missense_Mutation_p.K283N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K283N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K283N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K283N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K283N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K283N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.K283N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	283					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGGGGGTACTTGTCCCCGT	0.642																																																	0													208	152	171					20																	62071029		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.849G>T	20.37:g.62071029C>A	ENSP00000352035:p.Lys283Asn		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K283N	ENST00000359125.2	37	c.849	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688716	0.68271	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.01	4.01	0.46588	Ion transport (1);	0.129992	0.50627	D	0.000119	D	0.98362	0.9456	M	0.89095	3.005	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.991;0.999;0.999;0.999;0.999	D	0.98897	1.0775	10	0.87932	D	0	-9.5214	11.201	0.48741	0.0:0.9083:0.0:0.0917	.	283;283;283;283;283;283	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	N	283	ENSP00000349789:K283N;ENSP00000352035:K283N;ENSP00000359246:K283N;ENSP00000346601:K283N;ENSP00000352718:K283N;ENSP00000399612:K283N;ENSP00000353668:K283N;ENSP00000339611:K283N;ENSP00000359244:K283N;ENSP00000359242:K283N;ENSP00000359241:K283N;ENSP00000345523:K283N	ENSP00000345523:K283N	K	-	3	2	KCNQ2	61541473	0.999000	0.42202	1.000000	0.80357	0.839000	0.47603	0.684000	0.25364	1.908000	0.55244	0.561000	0.74099	AAG	KCNQ2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	C	NM_172109		62071029	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62071029	C	A	62071029	3	1	131	1	0	0	0	0	1	0	0	0	8103	564	20	4	1881	4	KCNQ2	20	62071029	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	771544	62071029	954491	1897	22037										
C20orf195	79025	genome.wustl.edu	37	chr20	62187146	62187146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtggaagacctacaccgagCgccgcaatgccctgcgtgag	13	14	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:62187146C>T	ENST00000370098.3	+	2	222	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R44C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	44						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTACACCGAGCGCCGCAATGC	0.622																																																	0													55	51	52					20																	62187146		2203	4300	6503	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.130C>T	20.37:g.62187146C>T	ENSP00000359116:p.Arg44Cys			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R44C	ENST00000370098.3	37	c.130	CCDS13526.1	20	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127299	0.37533	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	4.25	0.50352	.	0.298356	0.22644	N	0.057410	T	0.46249	0.1383	L	0.29908	0.895	0.22719	N	0.998812	D	0.76494	0.999	P	0.61003	0.882	T	0.29397	-1.0013	9	0.87932	D	0	-14.8524	10.6985	0.45913	0.2941:0.7059:0.0:0.0	.	44	Q9BVV2	CT195_HUMAN	C	44	.	ENSP00000359115:R44C	R	+	1	0	C20orf195	61657590	0.028000	0.19301	0.226000	0.23910	0.003000	0.03518	1.674000	0.37544	2.444000	0.82710	0.655000	0.94253	CGC	C20orf195	-	NULL		0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf195	HGNC	protein_coding	OTTHUMT00000080155.1	C	NM_024059		62187146	1	no_errors	ENST00000370097	ensembl	human	known	70_37	missense	SNP	0.217	T	T	62187146	C	T	62187146	3	4	131	1	0	0	0	0	1	0	0	0	2105	768	27	2	132	2	C20orf195	20	62187146	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	116117	62187146	838374	1898	22038										
HSPA13	6782	genome.wustl.edu	37	chr21	15755429	15755429	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacccacctaagatcgtcatCtctctggccatcacagtccc	5	17	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:15755429C>A	ENST00000285667.3	-	1	79	c.12G>T	c.(10-12)gaG>gaT	p.E4D	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	4						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGATCGTCATCTCTCTGGCCA	0.637																																																	0													130	117	122					21																	15755429		2203	4300	6503	SO:0001583	missense	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.12G>T	21.37:g.15755429C>A	ENSP00000285667:p.Glu4Asp		B2R616|Q8NE40	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E4D	ENST00000285667.3	37	c.12	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973993	0.53720	.	.	ENSG00000155304	ENST00000285667	T	0.01599	4.74	4.26	1.43	0.22495	.	2.717330	0.00732	N	0.000945	T	0.05593	0.0147	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.37244	-0.9714	10	0.72032	D	0.01	-18.728	5.8237	0.18542	0.0:0.6627:0.0:0.3373	.	4	P48723	HSP13_HUMAN	D	4	ENSP00000285667:E4D	ENSP00000285667:E4D	E	-	3	2	HSPA13	14677300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.816000	0.27267	0.544000	0.28883	0.650000	0.86243	GAG	HSPA13	-	NULL		0.637	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	HGNC	protein_coding	OTTHUMT00000157815.1	C			15755429	-1	no_errors	ENST00000285667	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15755429	C	A	15755429	3	1	131	1	0	0	0	0	1	0	0	0	7426	912	32	3	1423	3	HSPA13	21	15755429	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		15755429	32374466	1899	22039										
USP25	29761	genome.wustl.edu	37	chr21	17246834	17246834	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgatatcacattatagaagaGaatgtttgctagtaagttga	9	3	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:17246834G>T	ENST00000285679.6	+	22	3157	c.2788G>T	c.(2788-2790)Gaa>Taa	p.E930*	USP25_ENST00000285681.2_Nonsense_Mutation_p.E962*|USP25_ENST00000351097.5_Nonsense_Mutation_p.E325*|USP25_ENST00000400183.2_Nonsense_Mutation_p.E1000*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	930					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTATAGAAGAGAATGTTTGCT	0.338																																																	0													152	158	156					21																	17246834		2203	4298	6501	SO:0001587	stop_gained	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2788G>T	21.37:g.17246834G>T	ENSP00000285679:p.Glu930*		C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.E1000*	ENST00000285679.6	37	c.2998	CCDS33515.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.004546|8.004546	0.98605|0.98605	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000449491|ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.187589|0.187589	0.56097|0.56097	D|D	0.000040|0.000040	T|.	0.48169|.	0.1485|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37430|.	-0.9706|.	4|.	.|0.02654	.|T	.|1	.|.	19.8549|19.8549	0.96755|0.96755	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	228|962;930;325;1000	.|.	.|ENSP00000285679:E930X	E|E	+|+	3|1	2|0	USP25|USP25	16168705|16168705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	5.894000|5.894000	0.69806|0.69806	2.699000|2.699000	0.92147|0.92147	0.460000|0.460000	0.39030|0.39030	GAG|GAA	USP25	-	NULL		0.338	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	G			17246834	1	no_errors	ENST00000400183	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	17246834	G	T	17246834	4	4	131	1	0	0	0	0	0	1	0	0	17087	943	33	3	2874	3	USP25	21	17246834	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1491405	17246834	30883061	1900	22040										
NCAM2	4685	genome.wustl.edu	37	chr21	22790877	22790877	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caagatttcaagaatatattCttgctttggctggtaagtat	8	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:22790877C>A	ENST00000400546.1	+	11	1717	c.1468C>A	c.(1468-1470)Ctt>Att	p.L490I	NCAM2_ENST00000284894.7_Missense_Mutation_p.L348I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	490	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATATATTCTTGCTTTGGC	0.318																																																	0													99	95	96					21																	22790877		1828	4087	5915	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1468C>A	21.37:g.22790877C>A	ENSP00000383392:p.Leu490Ile		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	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,prints_Neural_cell_adh	p.L490I	ENST00000400546.1	37	c.1468	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279140	0.80692	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.52526	0.66;0.66	5.07	5.07	0.68467	Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	M	0.91972	3.26	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.91635	0.999;0.999	T	0.82248	-0.0551	10	0.87932	D	0	-15.5885	17.0099	0.86403	0.0:1.0:0.0:0.0	.	348;490	B7Z5K2;O15394	.;NCAM2_HUMAN	I	490;348	ENSP00000383392:L490I;ENSP00000284894:L348I	ENSP00000284894:L348I	L	+	1	0	NCAM2	21712748	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.215000	0.58534	2.359000	0.80004	0.467000	0.42956	CTT	NCAM2	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like		0.318	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22790877	1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22790877	C	A	22790877	3	1	131	1	0	0	0	0	1	0	0	0	10227	913	32	3	1510	3	NCAM2	21	22790877	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5544043	22790877	25339018	1901	22041										
RNF160	26046	genome.wustl.edu	37	chr21	30358482	30358482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgaaattttgcaaaaaattCttggccaatatggaagaact	8	5	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:30358482C>A	ENST00000361371.5	-	3	402	c.323G>T	c.(322-324)aGa>aTa	p.R108I	LTN1_ENST00000389194.2_Missense_Mutation_p.R154I|LTN1_ENST00000389195.2_Missense_Mutation_p.R154I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	108				R -> T (in Ref. 7; DB452437). {ECO:0000305}.	protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAAAAAATTCTTGGCCAATA	0.318																																																	0													57	59	58					21																	30358482		2202	4300	6502	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.323G>T	21.37:g.30358482C>A	ENSP00000354977:p.Arg108Ile		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.R108I	ENST00000361371.5	37	c.323		21	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061970	0.76187	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66815	3.61;3.61;-0.23	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000005	T	0.80803	0.4693	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.81780	-0.0776	10	0.40728	T	0.16	.	16.7488	0.85480	0.0:1.0:0.0:0.0	.	108	O94822	LTN1_HUMAN	I	154;108;110;154	ENSP00000373846:R154I;ENSP00000354977:R108I;ENSP00000373847:R154I	ENSP00000354977:R108I	R	-	2	0	LTN1	29280353	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.195000	0.58400	2.190000	0.69967	0.467000	0.42956	AGA	LTN1	-	superfamily_ARM-type_fold		0.318	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	C	NM_015565		30358482	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30358482	C	A	30358482	3	1	131	1	0	0	0	0	1	0	0	0	13485	913	32	3	5089	3	RNF160	21	30358482	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	7567605	30358482	17771413	1902	22042										
C21orf7	56911	genome.wustl.edu	37	chr21	30547123	30547123	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcgaggctctgacggaggaGaatcggacgttgaggttggc	17	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:30547123G>T	ENST00000399947.2	+	9	916	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.E107D|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.E213D|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.E113D	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	213						cytosol (GO:0005829)|nucleus (GO:0005634)											TGACGGAGGAGAATCGGACGT	0.488																																																	0													120	111	114					21																	30547123		2203	4300	6503	SO:0001583	missense	56911			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.639G>T	21.37:g.30547123G>T	ENSP00000382828:p.Glu213Asp		D3DSE0|Q8TCL9	Missense_Mutation	SNP	NULL	p.E213D	ENST00000399947.2	37	c.639	CCDS13584.1	21	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445198	0.83993	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.55588	0.51;0.51	4.06	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.73217	2.22	0.50171	D	0.999858	D;D	0.71674	0.99;0.998	D;D	0.77557	0.98;0.99	T	0.68519	-0.5387	10	0.46703	T	0.11	-20.6769	11.3427	0.49541	0.0968:0.0:0.9032:0.0	.	113;213	B0EVZ8;P57077	.;TAK1L_HUMAN	D	107;213;113;113;213;113;113;113;113	ENSP00000343212:E213D;ENSP00000382828:E213D	ENSP00000345777:E113D	E	+	3	2	C21orf7	29468994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.189000	0.72051	1.198000	0.43158	0.650000	0.86243	GAG	C21orf7	-	NULL		0.488	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	C21orf7	HGNC	protein_coding	OTTHUMT00000171865.2	G	NM_020152		30547123	1	no_errors	ENST00000341618	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30547123	G	T	30547123	3	4	131	1	0	0	0	0	1	0	0	0	2137	933	33	3	665	3	C21orf7	21	30547123	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	188641	30547123	17582772	1903	22043										
KRTAP11-1	337880	genome.wustl.edu	37	chr21	32253821	32253821	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggcctggaagagcaatttCttgtggagcagttgaaggac	15	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:32253821C>A	ENST00000332378.4	-	1	53	c.23G>T	c.(22-24)aGa>aTa	p.R8I		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	8						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R8I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGAGCAATTTCTTGTGGAGCA	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											98	91	93					21																	32253821		2203	4300	6503	SO:0001583	missense	337880			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.23G>T	21.37:g.32253821C>A	ENSP00000330720:p.Arg8Ile		A1L4I8	Missense_Mutation	SNP	pfam_PMG	p.R8I	ENST00000332378.4	37	c.23	CCDS13608.1	21	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276592	0.59758	.	.	ENSG00000182591	ENST00000332378	T	0.03413	3.94	5.17	2.3	0.28687	.	0.230813	0.35096	N	0.003448	T	0.07007	0.0178	M	0.79258	2.445	0.42323	D	0.992261	P	0.40970	0.734	P	0.44860	0.462	T	0.12967	-1.0527	10	0.66056	D	0.02	-1.8318	2.5229	0.04684	0.1514:0.5358:0.1469:0.1659	.	8	Q8IUC1	KR111_HUMAN	I	8	ENSP00000330720:R8I	ENSP00000330720:R8I	R	-	2	0	KRTAP11-1	31175692	0.972000	0.33761	0.917000	0.36280	0.991000	0.79684	1.233000	0.32648	0.281000	0.22233	0.650000	0.86243	AGA	KRTAP11-1	-	pfam_PMG		0.532	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	C			32253821	-1	no_errors	ENST00000332378	ensembl	human	known	70_37	missense	SNP	0.759	A	A	32253821	C	A	32253821	3	1	131	1	0	0	0	0	1	0	0	0	8537	913	32	3	472	3	KRTAP11-1	21	32253821	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1706698	32253821	15876074	1904	22044										
TIAM1	7074	genome.wustl.edu	37	chr21	32537277	32537277	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtgaaaatgaaaatctctcAccttgctgctgtgatcagtc	8	9	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:32537277A>C	ENST00000286827.3	-	17	3463		c.e17+1		TIAM1_ENST00000541036.1_Splice_Site	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAAATCTCTCACCTTGCTGCT	0.522																																																	0													102	92	96					21																	32537277		2203	4300	6503	SO:0001630	splice_region_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2991+1T>G	21.37:g.32537277A>C			B7ZLR6|F5GZ53|Q17RT7	Splice_Site	SNP	-	e13+2	ENST00000286827.3	37	c.2991+2	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987786	0.74589	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4821	0.55850	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIAM1	31459148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.094000	0.64523	1.949000	0.56562	0.533000	0.62120	.	TIAM1	-	-		0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	A	NM_003253	Intron	32537277	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	32537277	A	C	32537277	5	2	131	1	0	0	0	0	0	0	1	0	15920	173	6	5	1834	5	TIAM1	21	32537277	Splice_Site	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	283456	32537277	15592618	1905	22045										
SFRS15	57466	genome.wustl.edu	37	chr21	33064673	33064673	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacactcacattaattgattCaattggaccaaactcttcca	3	11	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:33064673C>A	ENST00000286835.7	-	13	1985	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.E535*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.E520*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	535	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTAATTGATTCAATTGGACCA	0.388																																																	0													80	76	77					21																	33064673		2203	4300	6503	SO:0001587	stop_gained	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1603G>T	21.37:g.33064673C>A	ENSP00000286835:p.Glu535*		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.E535*	ENST00000286835.7	37	c.1603	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	43	10.452909	0.99408	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-21.7975	19.7578	0.96301	0.0:1.0:0.0:0.0	.	.	.	.	X	520;535;535	.	ENSP00000286835:E535X	E	-	1	0	SCAF4	31986544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.746000	0.94184	0.591000	0.81541	GAA	SCAF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	C	XM_047889		33064673	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	33064673	C	A	33064673	4	1	131	1	0	0	0	0	0	1	0	0	14201	835	29	3	1872	3	SFRS15	21	33064673	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	527396	33064673	15065222	1906	22046										
C21orf45	54069	genome.wustl.edu	37	chr21	33642063	33642063	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	actctgctttcaagattaaaAagctctttatcttctgacac	4	10	5	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:33642063A>C	ENST00000290130.3	-	4	630	c.576T>G	c.(574-576)ctT>ctG	p.L192L	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	192					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CAAGATTAAAAAGCTCTTTAT	0.343																																																	0													62	62	62					21																	33642063		2203	4299	6502	SO:0001819	synonymous_variant	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.576T>G	21.37:g.33642063A>C			B2R562|Q542Z0	Silent	SNP	NULL	p.L192	ENST00000290130.3	37	c.576	CCDS13611.1	21																																																																																			MIS18A	-	NULL		0.343	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	HGNC	protein_coding	OTTHUMT00000193090.1	A	NM_018944		33642063	-1	no_errors	ENST00000290130	ensembl	human	known	70_37	silent	SNP	1.000	C	C	33642063	A	C	33642063	2	2	131	1	0	0	0	0	0	0	0	1	2131	1	1	5		5	C21orf45	21	33642063	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	577390	33642063	14487832	1907	22047										
SYNJ1	8867	genome.wustl.edu	37	chr21	34072399	34072399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagtgactaggaccagataAtgtaacatagtatcacctgc	8	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:34072399A>C	ENST00000322229.7	-	3	227	c.228T>G	c.(226-228)caT>caG	p.H76Q	SYNJ1_ENST00000433931.2_Missense_Mutation_p.H115Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.H76Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.H115Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.H76Q			O43426	SYNJ1_HUMAN	synaptojanin 1	76					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGACCAGATAATGTAACATAG	0.348																																																	0													65	69	68					21																	34072399		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.228T>G	21.37:g.34072399A>C	ENSP00000322234:p.His76Gln		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.H115Q	ENST00000322229.7	37	c.345	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648070	0.29336	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.6	1.59	0.23543	Synaptojanin, N-terminal (1);	0.043250	0.85682	D	0.000000	T	0.36826	0.0981	L	0.42245	1.32	0.47778	D	0.999513	B;B;B;B;B	0.16166	0.003;0.005;0.009;0.016;0.006	B;B;B;B;B	0.15870	0.007;0.006;0.01;0.014;0.007	T	0.10776	-1.0615	10	0.23891	T	0.37	.	5.4839	0.16739	0.7101:0.114:0.0658:0.1101	.	76;115;76;76;76	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	76;76;115;115;76;76;76	ENSP00000371931:H76Q;ENSP00000349903:H76Q;ENSP00000371939:H115Q;ENSP00000409667:H115Q;ENSP00000322234:H76Q;ENSP00000413649:H76Q;ENSP00000412707:H76Q	ENSP00000322234:H76Q	H	-	3	2	SYNJ1	32994270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	0.910000	0.36722	0.477000	0.44152	CAT	SYNJ1	-	pfam_Syja_N		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		A			34072399	-1	no_errors	ENST00000433931	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34072399	A	C	34072399	3	2	131	1	0	0	0	0	1	0	0	0	15482	98	4	5	4643	5	SYNJ1	21	34072399	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	430336	34072399	14057496	1908	22048										
GCFC1	94104	genome.wustl.edu	37	chr21	34134460	34134460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttctttcacagaaaaaactAtccggcgtttctcatcgtca	5	11	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:34134460A>G	ENST00000331923.4	-	4	1007	c.818T>C	c.(817-819)aTa>aCa	p.I273T	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.I273T	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	273					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAAAAAACTATCCGGCGTTT	0.373																																																	0													124	125	125					21																	34134460		2203	4300	6503	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.818T>C	21.37:g.34134460A>G	ENSP00000328992:p.Ile273Thr		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	pfam_GCFC_dom	p.I273T	ENST00000331923.4	37	c.818	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824478	0.50739	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.38240	1.54;1.15	5.98	5.98	0.97165	.	0.189252	0.56097	D	0.000035	T	0.48314	0.1493	M	0.69358	2.11	0.52099	D	0.99994	D;B	0.56035	0.974;0.044	P;B	0.50659	0.647;0.019	T	0.41556	-0.9502	10	0.33141	T	0.24	-21.2461	16.1396	0.81513	1.0:0.0:0.0:0.0	.	273;273	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	T	273	ENSP00000328992:I273T;ENSP00000290178:I273T	ENSP00000290178:I273T	I	-	2	0	GCFC1	33056331	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.414000	0.73318	2.288000	0.76882	0.528000	0.53228	ATA	GCFC1	-	NULL		0.373	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC1	HGNC	protein_coding	OTTHUMT00000139563.1	A	NM_013329		34134460	-1	no_errors	ENST00000331923	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34134460	A	G	34134460	3	3	131	1	0	0	0	0	1	0	0	0	6308	449	16	5	2113	5	GCFC1	21	34134460	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	62061	34134460	13995435	1909	22049										
DOPEY2	9980	genome.wustl.edu	37	chr21	37635876	37635876	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agccttgcaagagaacttttCttcactgttgggagtattga	10	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:37635876C>A	ENST00000399151.3	+	25	5433	c.5348C>A	c.(5347-5349)tCt>tAt	p.S1783Y		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1783					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGAACTTTTCTTCACTGTTG	0.383																																																	0													89	89	89					21																	37635876		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5348C>A	21.37:g.37635876C>A	ENSP00000382104:p.Ser1783Tyr		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.S1783Y	ENST00000399151.3	37	c.5348	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006554	0.19199	.	.	ENSG00000142197	ENST00000399151	T	0.67865	-0.29	5.83	3.04	0.35103	.	0.461817	0.24841	N	0.035167	T	0.48642	0.1511	L	0.32530	0.975	0.09310	N	1	B;B	0.20459	0.045;0.027	B;B	0.15484	0.013;0.006	T	0.45056	-0.9287	10	0.66056	D	0.02	.	2.3061	0.04174	0.2373:0.4891:0.1183:0.1553	.	1783;1783	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	Y	1783	ENSP00000382104:S1783Y	ENSP00000382104:S1783Y	S	+	2	0	DOPEY2	36557746	0.000000	0.05858	0.001000	0.08648	0.467000	0.32768	1.077000	0.30741	0.375000	0.24679	0.650000	0.86243	TCT	DOPEY2	-	NULL		0.383	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	C	NM_005128		37635876	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.001	A	A	37635876	C	A	37635876	3	1	131	1	0	0	0	0	1	0	0	0	4718	913	32	3	5442	3	DOPEY2	21	37635876	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3501416	37635876	10494019	1910	22050										
DOPEY2	9980	genome.wustl.edu	37	chr21	37665628	37665628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttctgcaggaaatcagtaGctctgatgagatcaccatga	9	8	4	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:37665628G>A	ENST00000399151.3	+	37	6741	c.6656G>A	c.(6655-6657)aGc>aAc	p.S2219N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2219					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAATCAGTAGCTCTGATGAG	0.443																																																	0													73	71	72					21																	37665628		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6656G>A	21.37:g.37665628G>A	ENSP00000382104:p.Ser2219Asn		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.S2219N	ENST00000399151.3	37	c.6656	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179024	0.38511	.	.	ENSG00000142197	ENST00000399151	T	0.45668	0.89	5.62	3.8	0.43715	.	0.377447	0.31989	N	0.006758	T	0.27063	0.0663	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16988	-1.0384	10	0.22706	T	0.39	-26.0384	2.801	0.05414	0.1565:0.1453:0.5476:0.1506	.	2212;2219	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	2219	ENSP00000382104:S2219N	ENSP00000382104:S2219N	S	+	2	0	DOPEY2	36587498	0.000000	0.05858	0.007000	0.13788	0.675000	0.39556	0.080000	0.14802	0.716000	0.32124	0.655000	0.94253	AGC	DOPEY2	-	NULL		0.443	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37665628	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.000	A	A	37665628	G	A	37665628	3	1	131	1	0	0	0	0	1	0	0	0	4718	971	34	4	6798	4	DOPEY2	21	37665628	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	29752	37665628	10464267	1911	22051										
MORC3	23515	genome.wustl.edu	37	chr21	37717218	37717218	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taatattttaagtctaaaacAgtgagaattacctttggatt	6	4	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:37717218A>C	ENST00000400485.1	+	8	970	c.894A>C	c.(892-894)acA>acC	p.T298T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	298					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGTCTAAAACAGTGAGAATTA	0.308																																																	0													76	81	80					21																	37717218		1813	4078	5891	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.894A>C	21.37:g.37717218A>C			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.T298	ENST00000400485.1	37	c.894	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.308	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	A	NM_015358		37717218	1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.156	C	C	37717218	A	C	37717218	2	2	131	1	0	0	0	0	0	0	0	1	9726	175	7	5		5	MORC3	21	37717218	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	51590	37717218	10412677	1912	22052										
SIM2	6493	genome.wustl.edu	37	chr21	38115793	38115793	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acctcacaagaaactaggaaAttagtgaaacccaaaaatac	5	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:38115793A>C	ENST00000290399.6	+	9	1717	c.1104A>C	c.(1102-1104)aaA>aaC	p.K368N	SIM2_ENST00000430056.3_Missense_Mutation_p.K368N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	368	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AAACTAGGAAATTAGTGAAAC	0.493																																																	0													164	162	163					21																	38115793		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1104A>C	21.37:g.38115793A>C	ENSP00000290399:p.Lys368Asn		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.K368N	ENST00000290399.6	37	c.1104	CCDS13646.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.35|10.35	1.325080|1.325080	0.24080|0.24080	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.45668	.|0.89;0.89	4.43|4.43	-3.82|-3.82	0.04281|0.04281	.|Single-minded, C-terminal (2);	.|2.543740	.|0.02297	.|N	.|0.070795	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.31065|0.31065	0.9|0.9	0.21604|0.21604	N|N	0.999623|0.999623	.|B;B	.|0.24258	.|0.1;0.009	.|B;B	.|0.25405	.|0.06;0.023	T|T	0.32402|0.32402	-0.9908|-0.9908	5|10	.|0.36615	.|T	.|0.2	.|.	12.26|12.26	0.54645|0.54645	0.4488:0.0:0.5512:0.0|0.4488:0.0:0.5512:0.0	.|.	.|368;368	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	L|N	306|368	.|ENSP00000290399:K368N;ENSP00000404176:K368N	.|ENSP00000290399:K368N	I|K	+|+	1|3	0|2	SIM2|SIM2	37037663|37037663	0.983000|0.983000	0.35010|0.35010	0.223000|0.223000	0.23860|0.23860	0.539000|0.539000	0.34962|0.34962	0.475000|0.475000	0.22164|0.22164	-0.723000|-0.723000	0.04915|0.04915	0.334000|0.334000	0.21626|0.21626	ATT|AAA	SIM2	-	pfam_SIM_C		0.493	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	A	NM_009586		38115793	1	no_errors	ENST00000290399	ensembl	human	known	70_37	missense	SNP	0.023	C	C	38115793	A	C	38115793	3	2	131	1	0	0	0	0	1	0	0	0	14354	98	4	5	1138	5	SIM2	21	38115793	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	398575	38115793	10014102	1913	22053										
TTC3	7267	genome.wustl.edu	37	chr21	38512877	38512877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caaggaattatctgaagccgAaaaccagtttaagaggatta	9	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:38512877A>G	ENST00000399017.2	+	20	4423	c.1676A>G	c.(1675-1677)gAa>gGa	p.E559G	TTC3_ENST00000354749.2_Missense_Mutation_p.E559G|TTC3_ENST00000355666.1_Missense_Mutation_p.E559G|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.E249G	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	559					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCTGAAGCCGAAAACCAGTTT	0.323																																					Ovarian(38;194 1649 35661)												0													143	144	144					21																	38512877		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1676A>G	21.37:g.38512877A>G	ENSP00000381981:p.Glu559Gly		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E559G	ENST00000399017.2	37	c.1676	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333776	0.81801	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.234516	0.32134	N	0.006524	T	0.80706	0.4674	N	0.24115	0.695	0.44268	D	0.997122	D;D	0.76494	0.997;0.999	D;D	0.80764	0.916;0.994	D	0.83420	0.0032	10	0.66056	D	0.02	-31.9832	14.9543	0.71101	1.0:0.0:0.0:0.0	.	249;559	B4DSZ9;P53804	.;TTC3_HUMAN	G	559;559;541;559;249;559;559	ENSP00000403943:E559G;ENSP00000408456:E559G;ENSP00000391891:E541G;ENSP00000347889:E559G;ENSP00000442875:E249G;ENSP00000381981:E559G;ENSP00000346791:E559G	ENSP00000346791:E559G	E	+	2	0	TTC3	37434747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.070000	0.61991	0.528000	0.53228	GAA	TTC3	-	pfscan_TPR-contain_dom		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	A			38512877	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38512877	A	G	38512877	3	3	131	1	0	0	0	0	1	0	0	0	16728	246	9	5	1750	5	TTC3	21	38512877	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	397084	38512877	9617018	1914	22054										
ERG	2078	genome.wustl.edu	37	chr21	39772513	39772513	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacctggcctagttgtaattCtttgcgtagcttcaggatat	9	8	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:39772513C>A	ENST00000417133.2	-	8	934	c.749G>T	c.(748-750)aGa>aTa	p.R250I	ERG_ENST00000398907.1_Missense_Mutation_p.R243I|ERG_ENST00000398910.1_Missense_Mutation_p.R250I|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.R243I|ERG_ENST00000398905.1_Intron|ERG_ENST00000442448.1_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000453032.2_Missense_Mutation_p.R151I|ERG_ENST00000398919.2_Missense_Mutation_p.R250I|ERG_ENST00000398897.1_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGTTGTAATTCTTTGCGTAGC	0.448			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0													158	149	152					21																	39772513		2203	4300	6503	SO:0001583	missense	2078				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.749G>T	21.37:g.39772513C>A	ENSP00000414150:p.Arg250Ile		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.R250I	ENST00000417133.2	37	c.749	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382760	0.82792	.	.	ENSG00000157554	ENST00000398907;ENST00000288319;ENST00000417133;ENST00000398910;ENST00000453032;ENST00000398919	T;T;T;T;T;T	0.15487	2.47;2.42;2.42;2.47;2.42;2.42	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000008	T	0.38108	0.1028	M	0.64170	1.965	0.80722	D	1	D;B;P	0.58970	0.984;0.123;0.892	P;B;B	0.59948	0.866;0.023;0.284	T	0.19160	-1.0314	10	0.87932	D	0	.	18.4913	0.90849	0.0:1.0:0.0:0.0	.	250;250;243	P11308;P11308-6;P11308-4	ERG_HUMAN;.;.	I	243;243;250;250;151;250	ENSP00000381879:R243I;ENSP00000288319:R243I;ENSP00000414150:R250I;ENSP00000381881:R250I;ENSP00000396268:R151I;ENSP00000381891:R250I	ENSP00000288319:R243I	R	-	2	0	ERG	38694383	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.574000	0.67424	2.351000	0.79841	0.655000	0.94253	AGA	ERG	-	NULL		0.448	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	C	NM_182918		39772513	-1	no_errors	ENST00000398919	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39772513	C	A	39772513	3	1	131	1	0	0	0	0	1	0	0	0	5234	913	32	3	731	3	ERG	21	39772513	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1259636	39772513	8357382	1915	22055										
MX2	4600	genome.wustl.edu	37	chr21	42774012	42774012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcgtgcatcagtacatccaGcagctggtggagcccgccct	11	14	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:42774012G>A	ENST00000330714.3	+	11	1714	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	510					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGTACATCCAGCAGCTGGTGG	0.483																																																	0													101	96	98					21																	42774012		2203	4300	6503	SO:0001819	synonymous_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1530G>A	21.37:g.42774012G>A			B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.Q510	ENST00000330714.3	37	c.1530	CCDS13672.1	21																																																																																			MX2	-	pfam_Dynamin_central,superfamily_CH-domain		0.483	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	G	NM_002463		42774012	1	no_errors	ENST00000330714	ensembl	human	known	70_37	silent	SNP	0.000	A	A	42774012	G	A	42774012	2	1	131	1	0	0	0	0	0	0	0	1	10021	962	34	4		4	MX2	21	42774012	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3001499	42774012	5355883	1916	22056										
TRPM2	7226	genome.wustl.edu	37	chr21	45798886	45798886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacctgccttgcagaccatcGacaacgccaccaccaacggc	7	19	0	1	rs375889293		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:45798886G>T	ENST00000397928.1	+	8	1466	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.D341Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D341Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D341Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	341					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGACCATCGACAACGCCAC	0.637																																																	0													63	57	59					21																	45798886		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1021G>T	21.37:g.45798886G>T	ENSP00000381023:p.Asp341Tyr		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.D341Y	ENST00000397928.1	37	c.1021	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.226250	0.01518	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	3.84	2.69	0.31865	.	0.320727	0.30252	N	0.010054	T	0.02848	0.0085	N	0.00272	-1.73	0.19575	N	0.999961	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43458	-0.9390	10	0.02654	T	1	-22.134	6.4523	0.21910	0.0:0.084:0.1577:0.7584	.	341;341	E9PGK7;O94759	.;TRPM2_HUMAN	Y	341	ENSP00000300482:D341Y;ENSP00000381023:D341Y;ENSP00000300481:D341Y;ENSP00000381026:D341Y	ENSP00000300481:D341Y	D	+	1	0	TRPM2	44623314	1.000000	0.71417	0.998000	0.56505	0.341000	0.28922	3.800000	0.55537	0.115000	0.18071	-0.362000	0.07510	GAC	TRPM2	-	NULL		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	G	NM_003307		45798886	1	no_errors	ENST00000300482	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45798886	G	T	45798886	3	4	131	1	0	0	0	0	1	0	0	0	16617	1058	37	3	1051	3	TRPM2	21	45798886	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3024874	45798886	2331009	1917	22057										
ITGB2	3689	genome.wustl.edu	37	chr21	46320235	46320235	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcctggggtggggacttacGaattcgttgctcctcttgta	13	9	1	0	rs150327269		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	120	94	103		897,897	-7	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1C>T	21.37:g.46320235G>A			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.F299	ENST00000397850.2	37	c.897	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	G	NM_000211	Silent	46320235	-1	no_errors	ENST00000302347	ensembl	human	known	70_37	silent	SNP	0.785	A	A	46320235	G	A	46320235	5	1	131	1	0	0	0	0	0	0	1	0	7914	1072	37	1	1452	1	ITGB2	21	46320235	Splice_Site	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	521349	46320235	1809660	1918	22058										
LSS	4047	genome.wustl.edu	37	chr21	47647571	47647571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagagccccctcaaaggcggTgtgggctttgggcaagtcct	14	12	1	1	rs192273544		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:47647571T>G	ENST00000397728.3	-	3	292	c.214A>C	c.(214-216)Acc>Ccc	p.T72P	MCM3AP-AS1_ENST00000444998.1_RNA|LSS_ENST00000457828.2_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.T72P|LSS_ENST00000522411.1_Missense_Mutation_p.T72P|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	72					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCAAAGGCGGTGTGGGCTTTG	0.522																																					Pancreas(114;955 2313 34923 50507)												0													114	114	114					21																	47647571		2203	4300	6503	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.214A>C	21.37:g.47647571T>G	ENSP00000380837:p.Thr72Pro		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.T72P	ENST00000397728.3	37	c.214	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336529	0.81801	.	.	ENSG00000160285	ENST00000356396;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.89287	3.02	0.80722	D	1	D;D	0.69078	0.997;0.985	D;P	0.67548	0.952;0.843	T	0.59490	-0.7445	10	0.62326	D	0.03	.	13.1509	0.59488	0.0:0.0:0.0:1.0	.	72;72	E9PEI9;P48449	.;ERG7_HUMAN	P	72;72;72;73	ENSP00000348762:T72P;ENSP00000380837:T72P;ENSP00000429133:T72P;ENSP00000391368:T73P	ENSP00000348762:T72P	T	-	1	0	LSS	46471999	1.000000	0.71417	0.994000	0.49952	0.573000	0.36030	5.194000	0.65125	1.926000	0.55796	0.459000	0.35465	ACC	LSS	-	NULL		0.522	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	T			47647571	-1	no_errors	ENST00000356396	ensembl	human	known	70_37	missense	SNP	0.993	G	G	47647571	T	G	47647571	3	3	131	1	0	0	0	0	1	0	0	0	9088	1696	59	5	2064	5	LSS	21	47647571	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1327336	47647571	482324	1919	22059										
CECR2	27443	genome.wustl.edu	37	chr22	18022113	18022113	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcctcccagccatatgtatCgatcgtacaagtacctgaat	6	12	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:18022113C>T	ENST00000400585.2	+	16	2230	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.R739*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R740*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	781					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCATATGTATCGATCGTACAA	0.562																																																	0													30	32	31					22																	18022113		1888	4122	6010	SO:0001587	stop_gained	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1792C>T	22.37:g.18022113C>T	ENSP00000383428:p.Arg598*		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R739*	ENST00000400585.2	37	c.2215		22	.	.	.	.	.	.	.	.	.	.	C	38	6.909366	0.97928	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.43	4.37	0.52481	.	0.361046	0.20137	N	0.098480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9546	13.7921	0.63148	0.2069:0.7931:0.0:0.0	.	.	.	.	X	598;739;740	.	ENSP00000262608:R740X	R	+	1	2	CECR2	16402113	0.989000	0.36119	0.974000	0.42286	0.925000	0.55904	1.551000	0.36233	2.825000	0.97269	0.655000	0.94253	CGA	CECR2	-	NULL		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	C	NM_031413		18022113	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	nonsense	SNP	0.952	T	T	18022113	C	T	18022113	4	4	131	1	0	0	0	0	0	1	0	0	3211	876	31	1	2275	1	CECR2	22	18022113	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09		18022113	33282453	1920	22060										
CDC45	8318	genome.wustl.edu	37	chr22	19486625	19486625	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgccttctcttcttccaggTgggccatcgttggactaaca	9	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:19486625T>C	ENST00000407835.1	+	10	911	c.655T>C	c.(655-657)Tgg>Cgg	p.W219R	CDC45_ENST00000404724.3_Splice_Site_p.W173R|CDC45_ENST00000263201.1_Splice_Site_p.W219R|CDC45_ENST00000437685.2_Splice_Site_p.W251R			O75419	CDC45_HUMAN	cell division cycle 45	219					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TTCTTCCAGGTGGGCCATCGT	0.592																																																	0													140	103	116					22																	19486625		2203	4300	6503	SO:0001630	splice_region_variant	8318			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.654-1T>C	22.37:g.19486625T>C			B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.W251R	ENST00000407835.1	37	c.751	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384758	0.82792	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.998;0.998	T	0.63350	-0.6657	10	0.87932	D	0	-13.9164	14.4462	0.67352	0.0:0.0:0.0:1.0	.	251;214;173;251;219	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	R	219;251;219;173	ENSP00000385240:W219R;ENSP00000405726:W251R;ENSP00000263201:W219R;ENSP00000384978:W173R	ENSP00000263201:W219R	W	+	1	0	CDC45	17866625	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.243000	0.78219	2.047000	0.60756	0.459000	0.35465	TGG	CDC45	-	pfam_CDC45		0.592	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	T	NM_003504	Missense_Mutation	19486625	1	no_errors	ENST00000437685	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19486625	T	C	19486625	5	2	131	1	0	0	0	0	0	0	1	0	3086	1710	59	5	789	5	CDC45	22	19486625	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1464512	19486625	31817941	1921	22061										
PI4KA	5297	genome.wustl.edu	37	chr22	21088097	21088097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggttgcatttggaaccacatCggcatgcaggagggacagcc	14	10	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:21088097C>T	ENST00000572273.1	-	35	4143	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N	PI4KA_ENST00000255882.6_Missense_Mutation_p.D1363N|PI4KA_ENST00000414196.3_Missense_Mutation_p.D115N			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1305					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGAACCACATCGGCATGCAGG	0.587																																					GBM(136;1332 1831 3115 23601 50806)												0													65	61	62					22																	21088097		2203	4297	6500	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3913G>A	22.37:g.21088097C>T	ENSP00000458238:p.Asp1305Asn		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D1363N	ENST00000572273.1	37	c.4087		22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746718	0.89663	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77750	-1.12	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	L	0.56769	1.78	0.80722	D	1	P	0.45531	0.86	P	0.44732	0.459	T	0.75019	-0.3465	10	0.20046	T	0.44	-26.0282	18.369	0.90400	0.0:1.0:0.0:0.0	.	1305	P42356	PI4KA_HUMAN	N	1305;115	ENSP00000402981:D115N	ENSP00000255882:D1305N	D	-	1	0	PI4KA	19418097	1.000000	0.71417	0.707000	0.30419	0.886000	0.51366	7.748000	0.85085	2.340000	0.79590	0.460000	0.39030	GAT	PI4KA	-	NULL		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21088097	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21088097	C	T	21088097	3	4	131	1	0	0	0	0	1	0	0	0	11897	884	31	1	2305	1	PI4KA	22	21088097	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1601472	21088097	30216469	1922	22062										
CCDC116	164592	genome.wustl.edu	37	chr22	21989060	21989060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agctttcagtggacacaggaGcagcccttgtcctggttctc	11	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:21989060G>T	ENST00000292779.3	+	4	869	c.708G>T	c.(706-708)gaG>gaT	p.E236D	CCDC116_ENST00000607942.1_Missense_Mutation_p.E236D	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	236										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGACACAGGAGCAGCCCTTGT	0.607																																																	0													100	105	104					22																	21989060		2203	4300	6503	SO:0001583	missense	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.708G>T	22.37:g.21989060G>T	ENSP00000292779:p.Glu236Asp		Q8N9Y9	Missense_Mutation	SNP	NULL	p.E236D	ENST00000292779.3	37	c.708	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154079	0.21371	.	.	ENSG00000161180	ENST00000292779	T	0.16196	2.36	4.42	0.552	0.17230	.	0.237438	0.29783	N	0.011201	T	0.12475	0.0303	L	0.47190	1.495	0.09310	N	1	B;B	0.24576	0.106;0.09	B;B	0.23419	0.045;0.046	T	0.20207	-1.0282	10	0.87932	D	0	-47.2688	3.5818	0.07957	0.2515:0.0:0.5624:0.1861	.	236;236	B7Z7H5;Q8IYX3-2	.;.	D	236	ENSP00000292779:E236D	ENSP00000292779:E236D	E	+	3	2	CCDC116	20319060	0.181000	0.23161	0.357000	0.25798	0.062000	0.15995	0.240000	0.18042	0.112000	0.17975	0.485000	0.47835	GAG	CCDC116	-	NULL		0.607	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	HGNC	protein_coding	OTTHUMT00000320199.1	G	NM_152612		21989060	1	no_errors	ENST00000292779	ensembl	human	known	70_37	missense	SNP	0.062	T	T	21989060	G	T	21989060	3	4	131	1	0	0	0	0	1	0	0	0	2758	962	34	4	718	4	CCDC116	22	21989060	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	900963	21989060	29315506	1923	22063										
ZNF280B	140883	genome.wustl.edu	37	chr22	22842318	22842318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttctccttgaaagttaaaAactgtagccggcacttggaa	8	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:22842318A>C	ENST00000406426.1	-	4	2148	c.1406T>G	c.(1405-1407)tTt>tGt	p.F469C	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F469C			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAAGTTAAAAACTGTAGCCG	0.408																																																	0													109	108	109					22																	22842318		2203	4300	6503	SO:0001583	missense	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1406T>G	22.37:g.22842318A>C	ENSP00000385998:p.Phe469Cys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F469C	ENST00000406426.1	37	c.1406	CCDS13799.1	22	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878771	0.72294	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.70749	-0.51;-0.51	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	D	0.87577	0.6212	H	0.94734	3.575	0.48901	D	0.999723	D	0.89917	1.0	D	0.91635	0.999	D	0.90574	0.4524	9	0.87932	D	0	-17.1	12.726	0.57170	1.0:0.0:0.0:0.0	.	469	Q86YH2	Z280B_HUMAN	C	469	ENSP00000385998:F469C;ENSP00000353586:F469C	ENSP00000353586:F469C	F	-	2	0	ZNF280B	21172318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.980000	0.70516	2.172000	0.68678	0.533000	0.62120	TTT	ZNF280B	-	smart_Znf_C2H2-like		0.408	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2	A	NM_080764		22842318	-1	no_errors	ENST00000360412	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22842318	A	C	22842318	3	2	131	1	0	0	0	0	1	0	0	0	17845	14	1	5	229	5	ZNF280B	22	22842318	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	853258	22842318	28462248	1924	22064										
ZNF280B	140883	genome.wustl.edu	37	chr22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctggcacacatagggcatttCgccaggcttatgatggtcct	11	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																																	0													117	111	113					22																	22842526		2203	4300	6503	SO:0001583	missense	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E400K	ENST00000406426.1	37	c.1198	CCDS13799.1	22	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA	ZNF280B	-	NULL		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2	C	NM_080764		22842526	-1	no_errors	ENST00000360412	ensembl	human	known	70_37	missense	SNP	0.998	T	T	22842526	C	T	22842526	3	4	131	1	0	0	0	0	1	0	0	0	17845	893	31	1	437	1	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	208	22842526	28462040	1925	22065										
PIWIL3	440822	genome.wustl.edu	37	chr22	25123947	25123947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcattggtacttgcaacaAatcctgctattgatttctgt	7	9	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:25123947A>C	ENST00000332271.5	-	16	2422	c.2006T>G	c.(2005-2007)tTt>tGt	p.F669C	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.F551C|PIWIL3_ENST00000527701.1_Missense_Mutation_p.F551C	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	669	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACTTGCAACAAATCCTGCTAT	0.348																																																	0													136	121	126					22																	25123947		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2006T>G	22.37:g.25123947A>C	ENSP00000330031:p.Phe669Cys			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.F669C	ENST00000332271.5	37	c.2006	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893195	0.33442	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.33216	1.42;1.42;1.42	2.8	2.8	0.32819	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.228519	0.38605	U	0.001629	T	0.53158	0.1779	M	0.83692	2.655	0.41875	D	0.990299	D;P;D	0.89917	1.0;0.577;0.961	D;P;P	0.80764	0.994;0.665;0.856	T	0.56384	-0.7988	10	0.51188	T	0.08	.	9.0654	0.36460	1.0:0.0:0.0:0.0	.	551;660;669	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	C	669;551;551	ENSP00000330031:F669C;ENSP00000431843:F551C;ENSP00000435718:F551C	ENSP00000330031:F669C	F	-	2	0	PIWIL3	23453947	1.000000	0.71417	0.931000	0.37212	0.038000	0.13279	5.887000	0.69751	1.311000	0.45024	0.459000	0.35465	TTT	PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.348	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	A	NM_001008496		25123947	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25123947	A	C	25123947	3	2	131	1	0	0	0	0	1	0	0	0	11983	14	1	5	666	5	PIWIL3	22	25123947	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2281421	25123947	26180619	1926	22066										
MYO18B	84700	genome.wustl.edu	37	chr22	26164885	26164885	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggacggtccccagaataaGaaggacaaagaaggggtgct	15	7	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:26164885G>T	ENST00000407587.2	+	4	1171	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	MYO18B_ENST00000536101.1_Missense_Mutation_p.K334N|MYO18B_ENST00000335473.7_Missense_Mutation_p.K334N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	334						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGAATAAGAAGGACAAAG	0.552																																																	0													33	34	34					22																	26164885		2012	4153	6165	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1002G>T	22.37:g.26164885G>T	ENSP00000386096:p.Lys334Asn		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K334N	ENST00000407587.2	37	c.1002		22	.	.	.	.	.	.	.	.	.	.	g	8.482	0.859966	0.17178	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89050	-2.44;-2.44;-2.46	4.98	3.96	0.45880	.	0.988525	0.08215	N	0.980018	D	0.83843	0.5342	L	0.29908	0.895	0.09310	N	1	B;P;P	0.36535	0.421;0.557;0.557	B;B;B	0.38616	0.143;0.277;0.277	T	0.75557	-0.3276	10	0.72032	D	0.01	.	8.1332	0.31039	0.0891:0.1624:0.7485:0.0	.	334;334;334	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	334	ENSP00000441229:K334N;ENSP00000334563:K334N;ENSP00000386096:K334N	ENSP00000334563:K334N	K	+	3	2	MYO18B	24494885	0.327000	0.24678	0.762000	0.31397	0.023000	0.10783	2.176000	0.42500	2.314000	0.78098	0.486000	0.48141	AAG	MYO18B	-	NULL		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	G	NM_032608		26164885	1	no_errors	ENST00000335473	ensembl	human	known	70_37	missense	SNP	0.003	T	T	26164885	G	T	26164885	3	4	131	1	0	0	0	0	1	0	0	0	10089	933	33	3	1012	3	MYO18B	22	26164885	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1040938	26164885	25139681	1927	22067										
SEZ6L	23544	genome.wustl.edu	37	chr22	26688897	26688897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcaaatctcccccttcacttCgcagccctatgtggcccaca	6	18	2	0	rs200293457		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:26688897C>T	ENST00000248933.6	+	2	715	c.620C>T	c.(619-621)tCg>tTg	p.S207L	SEZ6L_ENST00000343706.4_Missense_Mutation_p.S207L|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S207L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S207L|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S207L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	207					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S207L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCTTCACTTCGCAGCCCTAT	0.662																																																	2	Substitution - Missense(2)	large_intestine(2)											53	57	56					22																	26688897		2201	4293	6494	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.620C>T	22.37:g.26688897C>T	ENSP00000248933:p.Ser207Leu		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S207L	ENST00000248933.6	37	c.620	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659530	0.29515	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29655	1.82;1.93;2.0;1.82;1.56	4.49	4.49	0.54785	.	0.387872	0.18853	N	0.129344	T	0.14830	0.0358	N	0.08118	0	0.19945	N	0.999948	B;B;B;B;B;B	0.21309	0.004;0.01;0.054;0.025;0.01;0.01	B;B;B;B;B;B	0.12156	0.001;0.001;0.004;0.007;0.001;0.001	T	0.08006	-1.0743	10	0.42905	T	0.14	.	7.4189	0.27061	0.1661:0.7452:0.0:0.0887	.	207;207;207;207;207;207	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	L	207	ENSP00000384772:S207L;ENSP00000437037:S207L;ENSP00000354185:S207L;ENSP00000248933:S207L;ENSP00000342661:S207L	ENSP00000248933:S207L	S	+	2	0	SEZ6L	25018897	0.001000	0.12720	0.606000	0.28943	0.694000	0.40290	0.781000	0.26774	2.216000	0.71823	0.508000	0.49915	TCG	SEZ6L	-	NULL		0.662	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	C			26688897	1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	0.136	T	T	26688897	C	T	26688897	3	4	131	1	0	0	0	0	1	0	0	0	14173	893	31	1	626	1	SEZ6L	22	26688897	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	524012	26688897	24615669	1928	22068										
ASPHD2	57168	genome.wustl.edu	37	chr22	26829794	26829794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcctgcctcctggtcctcttCgtgtggtactgttatcacgt	10	13	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:26829794C>T	ENST00000215906.5	+	2	651	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	71					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TGGTCCTCTTCGTGTGGTACT	0.647																																																	0													95	80	85					22																	26829794		2203	4300	6503	SO:0001819	synonymous_variant	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.213C>T	22.37:g.26829794C>T			B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.F71	ENST00000215906.5	37	c.213	CCDS13834.2	22																																																																																			ASPHD2	-	NULL		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	C	NM_020437		26829794	1	no_errors	ENST00000215906	ensembl	human	known	70_37	silent	SNP	0.982	T	T	26829794	C	T	26829794	2	4	131	1	0	0	0	0	0	0	0	1	1056	883	31	1		1	ASPHD2	22	26829794	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	140897	26829794	24474772	1929	22069										
DEPDC5	9681	genome.wustl.edu	37	chr22	32289577	32289577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgctgacatagctgccactgTcccagagcagaggactgtga	12	11	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:32289577T>C	ENST00000382112.3	+	38	4086	c.4016T>C	c.(4015-4017)gTc>gCc	p.V1339A	DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1248A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V1317A|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V165A|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V1348A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1326A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1317A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1348A	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1348					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCTGCCACTGTCCCAGAGCAG	0.488																																																	0													77	79	78					22																	32289577		1985	4178	6163	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4016T>C	22.37:g.32289577T>C	ENSP00000371546:p.Val1339Ala		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.V1326A	ENST00000382112.3	37	c.3977	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713641	0.89112	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T;T;T;T;T;T;T	0.34275	1.37;1.8;1.8;1.76;1.8;1.76;1.8	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.47619	0.1455	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.995;0.998;0.999;0.996;0.994;0.994	D;D;D;D;D;D	0.81914	0.978;0.986;0.995;0.987;0.97;0.97	T	0.50197	-0.8856	10	0.66056	D	0.02	.	13.8902	0.63733	0.0:0.0:0.0:1.0	.	1348;1248;734;1326;1339;1317	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	A	1248;1326;1317;1248;1348;1339;1348;1317;165	ENSP00000440210:V1248A;ENSP00000266091:V1326A;ENSP00000383108:V1317A;ENSP00000383105:V1348A;ENSP00000371546:V1339A;ENSP00000371545:V1348A;ENSP00000383107:V1317A	ENSP00000266091:V1326A	V	+	2	0	DEPDC5	30619577	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.542000	0.82095	1.874000	0.54306	0.460000	0.39030	GTC	DEPDC5	-	NULL		0.488	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	T	NM_014662		32289577	1	no_errors	ENST00000266091	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32289577	T	C	32289577	3	2	131	1	0	0	0	0	1	0	0	0	4452	1667	58	5	4184	5	DEPDC5	22	32289577	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	5459783	32289577	19014989	1930	22070										
RFPL2	10739	genome.wustl.edu	37	chr22	32587262	32587262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgccgattctgtctgatgcGcccacttcggacgctcctga	10	14	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:32587262G>A	ENST00000400237.1	-	5	1569	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	RFPL2_ENST00000248983.4_Missense_Mutation_p.R122C|RFPL2_ENST00000248980.4_Missense_Mutation_p.R151C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.R122C			O75678	RFPL2_HUMAN	ret finger protein-like 2	212	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTCTGATGCGCCCACTTCGG	0.542																																																	0													138	125	130					22																	32587262		2203	4300	6503	SO:0001583	missense	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.634C>T	22.37:g.32587262G>A	ENSP00000383096:p.Arg212Cys			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R212C	ENST00000400237.1	37	c.634	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	G	4.481	0.089149	0.08583	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	0.351	0.351	0.16042	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.09335	0.0230	L	0.49455	1.56	0.09310	N	1	B;B	0.16396	0.017;0.0	B;B	0.18561	0.022;0.002	T	0.33163	-0.9879	9	0.38643	T	0.18	.	4.0321	0.09713	1.0E-4:0.4602:0.5397:1.0E-4	.	212;151	O75678;O75678-3	RFPL2_HUMAN;.	C	151;122;122;212	ENSP00000248980:R151C;ENSP00000248983:R122C;ENSP00000383095:R122C;ENSP00000383096:R212C	ENSP00000248980:R151C	R	-	1	0	RFPL2	30917262	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.032000	0.12266	0.399000	0.25367	0.404000	0.27445	CGC	RFPL2	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.542	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	G	NM_006605		32587262	-1	no_errors	ENST00000400237	ensembl	human	known	70_37	missense	SNP	0.000	A	A	32587262	G	A	32587262	3	1	131	1	0	0	0	0	1	0	0	0	13284	1087	38	2	506	2	RFPL2	22	32587262	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	297685	32587262	18717304	1931	22071										
CBX6	23466	genome.wustl.edu	37	chr22	39262280	39262280	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	accccagcagccaccttctcGaaatcctcagggttgcagaa	8	15	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:39262280G>A	ENST00000407418.3	-	5	1296	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	CBX6_ENST00000216083.6_Silent_p.F373F			O95503	CBX6_HUMAN	chromobox homolog 6	391					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)	p.F391F(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCACCTTCTCGAAATCCTCAG	0.647																																																	1	Substitution - coding silent(1)	large_intestine(1)											41	42	42					22																	39262280		2203	4300	6503	SO:0001819	synonymous_variant	23466				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1173C>T	22.37:g.39262280G>A			A8KAH0|Q96EM5	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.F391	ENST00000407418.3	37	c.1173	CCDS13980.1	22																																																																																			CBX6	-	NULL		0.647	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1	G	NM_014292		39262280	-1	no_errors	ENST00000407418	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39262280	G	A	39262280	2	1	131	1	0	0	0	0	0	0	0	1	2727	1049	37	1		1	CBX6	22	39262280	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	6675018	39262280	12042286	1932	22072										
APOBEC3D	140564	genome.wustl.edu	37	chr22	39421629	39421629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttcatgccttggtacaaattCgatgacaattatgcatccct	6	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:39421629C>T	ENST00000216099.8	+	4	965	c.558C>T	c.(556-558)ttC>ttT	p.F186F	APOBEC3D_ENST00000381568.4_Silent_p.F186F|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	186					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.F186F(1)|p.F255F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.512																																																	2	Substitution - coding silent(2)	large_intestine(2)											333	289	304					22																	39421629		2203	4300	6503	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.558C>T	22.37:g.39421629C>T			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F186	ENST00000216099.8	37	c.558	CCDS46709.1	22																																																																																			APOBEC3D	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like		0.512	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	C	NM_152426		39421629	1	no_errors	ENST00000216099	ensembl	human	known	70_37	silent	SNP	0.000	T	T	39421629	C	T	39421629	2	4	131	1	0	0	0	0	0	0	0	1	792	883	31	1		1	APOBEC3D	22	39421629	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	159349	39421629	11882937	1933	22073										
EP300	2033	genome.wustl.edu	37	chr22	41527552	41527552	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tatcaagtaaatcagatgccGacacaaccccaggtgcaagc	8	12	2	1	rs374768898		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:41527552G>A	ENST00000263253.7	+	6	2662	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	481					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCAGATGCCGACACAACCCC	0.512			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0								G		1,4405	2.1+/-5.4	0,1,2202	84	82	83		1443	-6	0.2	22		83	0,8600		0,0,4300	no	coding-synonymous	EP300	NM_001429.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		481/2415	41527552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1443G>A	22.37:g.41527552G>A			B1AKC2	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P481	ENST00000263253.7	37	c.1443	CCDS14010.1	22																																																																																			EP300	-	NULL		0.512	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41527552	1	no_errors	ENST00000263253	ensembl	human	known	70_37	silent	SNP	0.124	A	A	41527552	G	A	41527552	2	1	131	1	0	0	0	0	0	0	0	1	5160	1045	37	1		1	EP300	22	41527552	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2105923	41527552	9777014	1934	22074										
SCUBE1	80274	genome.wustl.edu	37	chr22	43604187	43604187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgaaggcgatgggcctctcGtaggtctggcaggtctcata	15	9	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:43604187G>A	ENST00000360835.4	-	20	2751	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	875	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGGCCTCTCGTAGGTCTGGC	0.587																																																	0													256	200	219					22																	43604187		2203	4300	6503	SO:0001819	synonymous_variant	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2625C>T	22.37:g.43604187G>A			Q5R336	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Y875	ENST00000360835.4	37	c.2625	CCDS14048.1	22																																																																																			SCUBE1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.587	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	G	NM_173050		43604187	-1	no_errors	ENST00000360835	ensembl	human	known	70_37	silent	SNP	0.989	A	A	43604187	G	A	43604187	2	1	131	1	0	0	0	0	0	0	0	1	13974	1140	40	2		2	SCUBE1	22	43604187	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2076635	43604187	7700379	1935	22075										
PKDREJ	10343	genome.wustl.edu	37	chr22	46655437	46655437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggcttaaacaatgcacgtcGctggtactcacagttcctct	8	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:46655437G>A	ENST00000253255.5	-	1	3782	c.3783C>T	c.(3781-3783)agC>agT	p.S1261S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1261	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AATGCACGTCGCTGGTACTCA	0.453																																																	0													105	106	105					22																	46655437		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3783C>T	22.37:g.46655437G>A			B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.S1261	ENST00000253255.5	37	c.3783	CCDS14073.1	22																																																																																			PKDREJ	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46655437	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.022	A	A	46655437	G	A	46655437	2	1	131	1	0	0	0	0	0	0	0	1	11994	1078	38	2		2	PKDREJ	22	46655437	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3051250	46655437	4649129	1936	22076										
TBC1D22A	25771	genome.wustl.edu	37	chr22	47287219	47287219	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctccagagaaaacaaaaaGaatattttgcatttattgag	6	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:47287219G>T	ENST00000337137.4	+	6	932	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*|TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*|TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	256	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AAAACAAAAAGAATATTTTGC	0.398																																																	0													88	91	90					22																	47287219		2203	4300	6503	SO:0001587	stop_gained	25771			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.766G>T	22.37:g.47287219G>T	ENSP00000336724:p.Glu256*		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E256*	ENST00000337137.4	37	c.766	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	G	40	8.516893	0.98845	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1203	0.72438	0.0:0.0:1.0:0.0	.	.	.	.	X	256;209;197;178;209	.	ENSP00000336724:E256X	E	+	1	0	TBC1D22A	45665883	1.000000	0.71417	0.713000	0.30519	0.987000	0.75469	8.227000	0.89787	2.415000	0.81967	0.557000	0.71058	GAA	TBC1D22A	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.398	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3	G	NM_014346		47287219	1	no_errors	ENST00000337137	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47287219	G	T	47287219	4	4	131	1	0	0	0	0	0	1	0	0	15641	943	33	3	788	3	TBC1D22A	22	47287219	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	631782	47287219	4017347	1937	22077										
NCAPH2	29781	genome.wustl.edu	37	chr22	50954903	50954903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agatctgcatttcttttgacGaaggcaagaccacaatgaac	8	9	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:50954903G>A	ENST00000420993.2	+	2	258	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	NCAPH2_ENST00000395698.3_Missense_Mutation_p.E46K|NCAPH2_ENST00000395701.3_Missense_Mutation_p.E46K|NCAPH2_ENST00000299821.11_Missense_Mutation_p.E46K	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	46					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCTTTTGACGAAGGCAAGAC	0.537																																																	0													172	144	153					22																	50954903		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.136G>A	22.37:g.50954903G>A	ENSP00000410088:p.Glu46Lys		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.E46K	ENST00000420993.2	37	c.136	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306083	0.60305	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000299821	.	.	.	5.09	3.01	0.34805	.	0.116817	0.56097	N	0.000023	T	0.17109	0.0411	N	0.03608	-0.345	0.41046	D	0.985264	B;B;B;B	0.33379	0.054;0.054;0.032;0.41	B;B;B;B	0.20577	0.011;0.017;0.005;0.03	T	0.11767	-1.0574	9	0.08381	T	0.77	-8.3601	9.8173	0.40860	0.1692:0.0:0.8308:0.0	.	46;46;46;46	Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	K	46	.	ENSP00000299821:E46K	E	+	1	0	NCAPH2	49301769	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	5.275000	0.65575	1.155000	0.42497	0.491000	0.48974	GAA	NCAPH2	-	NULL		0.537	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50954903	1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50954903	G	A	50954903	3	1	131	1	0	0	0	0	1	0	0	0	10234	1059	37	1	142	1	NCAPH2	22	50954903	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3667684	50954903	349663	1938	22078										
NCAPH2	29781	genome.wustl.edu	37	chr22	50956613	50956613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatttcaggatgaacacgtgCgttccccaccccagaggggc	12	13	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:50956613C>T	ENST00000420993.2	+	7	674	c.552C>T	c.(550-552)tgC>tgT	p.C184C	NCAPH2_ENST00000395698.3_Silent_p.C184C|NCAPH2_ENST00000395701.3_Silent_p.C184C|NCAPH2_ENST00000299821.11_Silent_p.C184C	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	184					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGAACACGTGCGTTCCCCACC	0.637																																																	0													54	57	56					22																	50956613		2203	4300	6503	SO:0001819	synonymous_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.552C>T	22.37:g.50956613C>T			B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent	SNP	pfam_Condensin_II_H2-like	p.C184	ENST00000420993.2	37	c.552	CCDS14094.2	22																																																																																			NCAPH2	-	pfam_Condensin_II_H2-like		0.637	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	C	NM_152299		50956613	1	no_errors	ENST00000299821	ensembl	human	known	70_37	silent	SNP	0.855	T	T	50956613	C	T	50956613	2	4	131	1	0	0	0	0	0	0	0	1	10234	776	27	2		2	NCAPH2	22	50956613	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1710	50956613	347953	1939	22079										
P2RY8	286530	genome.wustl.edu	37	chrX	1584687	1584687	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgatgtgcgccaggagcacGaagttgttgggggcgaagca	17	8	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:1584687G>A	ENST00000381297.4	-	2	975	c.765C>T	c.(763-765)ttC>ttT	p.F255F	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGAGCACGAAGTTGTTGG	0.652			T	CRLF2	"B-ALL, Downs associated ALL"																																			Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													69	66	67					X																	1584687		2203	4296	6499	SO:0001819	synonymous_variant	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.765C>T	X.37:g.1584687G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.F255	ENST00000381297.4	37	c.765	CCDS14115.1	X																																																																																			P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.652	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	G	NM_178129		1584687	-1	no_errors	ENST00000381297	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1584687	G	A	1584687	2	1	131	1	0	0	0	0	0	0	0	1	11379	1049	37	1		1	P2RY8	23	1584687	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09		1584687	153685873	1940	22080										
ARHGAP6	395	genome.wustl.edu	37	chrX	11204524	11204524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agactgattgtcatcaagatCggtgatagaatccactgaca	9	8	2	6			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:11204524C>T	ENST00000337414.4	-	5	1977	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D166N|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.D401N|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D166N|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.D369N|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D194N|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.D178N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	369					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATCAAGATCGGTGATAGAA	0.453																																																	0													124	114	118					X																	11204524		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1105G>A	X.37:g.11204524C>T	ENSP00000338967:p.Asp369Asn		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D369N	ENST00000337414.4	37	c.1105	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.271033	0.95429	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24723	1.85;1.84;1.84;1.84;1.85;1.84;1.91;1.94	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000033	T	0.46814	0.1412	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;P;D;D;D	0.79784	0.945;0.638;0.992;0.988;0.993	T	0.24476	-1.0159	10	0.37606	T	0.19	.	18.5172	0.90939	0.0:1.0:0.0:0.0	.	178;166;369;369;369	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	N	194;166;166;369;205;369;178;401	ENSP00000438135:D194N;ENSP00000370112:D166N;ENSP00000302312:D166N;ENSP00000338967:D369N;ENSP00000370093:D205N;ENSP00000370094:D369N;ENSP00000389394:D178N;ENSP00000370108:D401N	ENSP00000302312:D166N	D	-	1	0	ARHGAP6	11114445	1.000000	0.71417	0.951000	0.38953	0.939000	0.58152	7.287000	0.78681	2.315000	0.78130	0.600000	0.82982	GAT	ARHGAP6	-	NULL		0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11204524	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11204524	C	T	11204524	3	4	131	1	0	0	0	0	1	0	0	0	887	884	31	1	1977	1	ARHGAP6	23	11204524	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	9619837	11204524	144066036	1941	22081										
TLR8	51311	genome.wustl.edu	37	chrX	12937616	12937616	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtctttgacagaacttagtCtaattcaaaacaatatatac	4	7	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:12937616C>A	ENST00000218032.6	+	2	544	c.457C>A	c.(457-459)Cta>Ata	p.L153I	TLR8_ENST00000311912.5_Missense_Mutation_p.L171I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	153					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGAACTTAGTCTAATTCAAAA	0.363																																																	0													59	61	60					X																	12937616		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.457C>A	X.37:g.12937616C>A	ENSP00000218032:p.Leu153Ile		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L153I	ENST00000218032.6	37	c.457	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690500	0.29962	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.01705	4.68;4.68	5.09	3.2	0.36748	.	0.000000	0.32819	N	0.005608	T	0.04182	0.0116	M	0.77313	2.365	0.37410	D	0.9132	D;D	0.55800	0.973;0.973	P;P	0.47786	0.557;0.557	T	0.32268	-0.9913	10	0.87932	D	0	.	6.1704	0.20414	0.0:0.6809:0.1504:0.1687	.	153;171	Q9NR97;D1CS70	TLR8_HUMAN;.	I	153;171	ENSP00000218032:L153I;ENSP00000312082:L171I	ENSP00000218032:L153I	L	+	1	2	TLR8	12847537	0.021000	0.18746	0.184000	0.23157	0.038000	0.13279	0.349000	0.20055	0.947000	0.37659	0.523000	0.50628	CTA	TLR8	-	NULL		0.363	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	C	NM_016610		12937616	1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	0.606	A	A	12937616	C	A	12937616	3	1	131	1	0	0	0	0	1	0	0	0	15987	912	32	3	463	3	TLR8	23	12937616	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1733092	12937616	142332944	1942	22082										
TLR8	51311	genome.wustl.edu	37	chrX	12939888	12939888	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccaccttgaagagagccgagAcaaaaacgttctcctttgtc	8	12	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:12939888A>C	ENST00000218032.6	+	2	2816	c.2729A>C	c.(2728-2730)gAc>gCc	p.D910A	TLR8_ENST00000311912.5_Missense_Mutation_p.D928A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	910	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GAGAGCCGAGACAAAAACGTT	0.453																																																	0													101	101	101					X																	12939888		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2729A>C	X.37:g.12939888A>C	ENSP00000218032:p.Asp910Ala		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D910A	ENST00000218032.6	37	c.2729	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077091	0.36662	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.34072	1.38;1.55	5.97	0.802	0.18686	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.995522	0.08129	N	0.993402	T	0.43100	0.1232	L	0.52011	1.625	0.34928	D	0.749043	P;P	0.52692	0.955;0.955	P;P	0.54544	0.755;0.755	T	0.47573	-0.9107	10	0.38643	T	0.18	.	6.5272	0.22307	0.602:0.1236:0.2744:0.0	.	910;928	Q9NR97;D1CS70	TLR8_HUMAN;.	A	910;928	ENSP00000218032:D910A;ENSP00000312082:D928A	ENSP00000218032:D910A	D	+	2	0	TLR8	12849809	0.894000	0.30519	0.021000	0.16686	0.476000	0.33039	2.023000	0.41040	-0.189000	0.10482	0.486000	0.48141	GAC	TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.453	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	A	NM_016610		12939888	1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	0.577	C	C	12939888	A	C	12939888	3	2	131	1	0	0	0	0	1	0	0	0	15987	275	10	5	2735	5	TLR8	23	12939888	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2272	12939888	142330672	1943	22083										
ATXN3L	92552	genome.wustl.edu	37	chrX	13337013	13337013	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcccctttgattttcaaattCtttctcataatttctaaaat	1	9	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:13337013C>A	ENST00000380622.2	-	1	1505	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	347					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTTTCAAATTCTTTCTCATAA	0.353																																																	0													115	104	108					X																	13337013		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.1041G>T	X.37:g.13337013C>A	ENSP00000369996:p.Lys347Asn		B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.K347N	ENST00000380622.2	37	c.1041	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.416573	0.00013	.	.	ENSG00000123594	ENST00000380622	T	0.15256	2.44	0.793	-1.59	0.08453	.	0.448244	0.24141	N	0.041176	T	0.02970	0.0088	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24941	-1.0146	9	0.02654	T	1	.	.	.	.	.	347	Q9H3M9	ATX3L_HUMAN	N	347	ENSP00000369996:K347N	ENSP00000369996:K347N	K	-	3	2	ATXN3L	13246934	0.723000	0.28027	0.004000	0.12327	0.001000	0.01503	0.033000	0.13754	-1.593000	0.01617	-1.569000	0.00873	AAG	ATXN3L	-	NULL		0.353	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	C	NM_001135995		13337013	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	missense	SNP	0.005	A	A	13337013	C	A	13337013	3	1	131	1	0	0	0	0	1	0	0	0	1215	912	32	3	30	3	ATXN3L	23	13337013	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	397125	13337013	141933547	1944	22084										
PIGA	5277	genome.wustl.edu	37	chrX	15349650	15349650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtggaagagagcatcatgggCcatagcagaaaaagaactat	12	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:15349650C>T	ENST00000333590.4	-	2	487	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	135					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GCATCATGGGCCATAGCAGAA	0.473																																																	0													100	82	88					X																	15349650		2203	4300	6503	SO:0001583	missense	5277			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"Glycosyltransferase group 1 domain containing", "Phosphatidylinositol glycan anchor biosynthesis"	8957	protein-coding gene	gene with protein product	"paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase"	311770	"phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.403G>A	X.37:g.15349650C>T	ENSP00000369820:p.Ala135Thr		B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.A135T	ENST00000333590.4	37	c.403	CCDS14165.1	X	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873782	0.72180	.	.	ENSG00000165195	ENST00000333590	T	0.77358	-1.09	5.68	5.68	0.88126	PIGA, GPI anchor biosynthesis (1);	0.045991	0.85682	D	0.000000	T	0.76212	0.3956	L	0.39514	1.22	0.80722	D	1	B	0.29671	0.254	B	0.37731	0.257	T	0.74688	-0.3581	10	0.49607	T	0.09	-7.6149	17.6503	0.88162	0.0:1.0:0.0:0.0	.	135	P37287	PIGA_HUMAN	T	135	ENSP00000369820:A135T	ENSP00000369820:A135T	A	-	1	0	PIGA	15259571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.385000	0.81259	0.544000	0.68410	GCC	PIGA	-	pfam_PIGA_GPI_anchor_biosynthesis		0.473	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	C	NM_002641		15349650	-1	no_errors	ENST00000333590	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15349650	C	T	15349650	3	4	131	1	0	0	0	0	1	0	0	0	11908	739	26	4	1071	4	PIGA	23	15349650	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2012637	15349650	139920910	1945	22085										
GRPR	2925	genome.wustl.edu	37	chrX	16142145	16142145	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgcactgcaacatctccagTcacagtgcggatctccccgt	8	15	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:16142145T>G	ENST00000380289.2	+	1	467	c.69T>G	c.(67-69)agT>agG	p.S23R		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	23					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACATCTCCAGTCACAGTGCGG	0.483											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													191	182	185					X																	16142145		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.69T>G	X.37:g.16142145T>G	ENSP00000369643:p.Ser23Arg	708	B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S23R	ENST00000380289.2	37	c.69	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379612	0.24944	.	.	ENSG00000126010	ENST00000380289	T	0.37915	1.17	5.72	3.3	0.37823	.	0.984629	0.08335	N	0.961721	T	0.19446	0.0467	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	10	0.23891	T	0.37	-4.8413	7.749	0.28886	0.0:0.2644:0.0:0.7356	.	23	P30550	GRPR_HUMAN	R	23	ENSP00000369643:S23R	ENSP00000369643:S23R	S	+	3	2	GRPR	16052066	0.968000	0.33430	0.063000	0.19743	0.346000	0.29079	0.892000	0.28322	0.353000	0.24079	0.486000	0.48141	AGT	GRPR	-	prints_Gastrin_pep_rcpt		0.483	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	T	NM_005314		16142145	1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	0.953	G	G	16142145	T	G	16142145	3	3	131	1	0	0	0	0	1	0	0	0	6828	1664	58	5	71	5	GRPR	23	16142145	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	792495	16142145	139128415	1946	22086										
GRPR	2925	genome.wustl.edu	37	chrX	16170617	16170617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttcaggaaacagttcaacaCtcagctgctctgttgccagc	8	12	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:16170617C>T	ENST00000380289.2	+	3	1402	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	335					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAGTTCAACACTCAGCTGCTC	0.572																																																	0													146	118	127					X																	16170617		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1004C>T	X.37:g.16170617C>T	ENSP00000369643:p.Thr335Ile		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T335I	ENST00000380289.2	37	c.1004	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455123	0.43634	.	.	ENSG00000126010	ENST00000380289	T	0.37411	1.2	5.47	4.55	0.56014	.	0.336486	0.32769	N	0.005663	T	0.21267	0.0512	N	0.14661	0.345	0.28978	N	0.888809	B	0.27823	0.19	B	0.25140	0.058	T	0.11665	-1.0578	10	0.45353	T	0.12	-37.9381	10.352	0.43941	0.3743:0.6257:0.0:0.0	.	335	P30550	GRPR_HUMAN	I	335	ENSP00000369643:T335I	ENSP00000369643:T335I	T	+	2	0	GRPR	16080538	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.890000	0.39728	2.287000	0.76781	0.600000	0.82982	ACT	GRPR	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_Bombsn_rcpt		0.572	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	C	NM_005314		16170617	1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16170617	C	T	16170617	3	4	131	1	0	0	0	0	1	0	0	0	6828	565	20	4	1014	4	GRPR	23	16170617	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	28472	16170617	139099943	1947	22087										
RAI2	10742	genome.wustl.edu	37	chrX	17818545	17818545	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaaagccgttatttactttCttggaaaaaaggtggccagc	9	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:17818545C>A	ENST00000545871.1	-	3	2046	c.1586G>T	c.(1585-1587)aGa>aTa	p.R529I	RAI2_ENST00000360011.1_Missense_Mutation_p.R529I|RAI2_ENST00000451717.1_Missense_Mutation_p.R529I|RAI2_ENST00000415486.3_Missense_Mutation_p.R479I|RAI2_ENST00000331511.1_Missense_Mutation_p.R529I	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	529					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TATTTACTTTCTTGGAAAAAA	0.323																																																	0													171	189	182					X																	17818545		2203	4300	6503	SO:0001583	missense	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1586G>T	X.37:g.17818545C>A	ENSP00000444210:p.Arg529Ile		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	NULL	p.R529I	ENST00000545871.1	37	c.1586	CCDS14183.1	X	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582244	0.65992	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.51325	0.75;0.75;0.75;0.75;0.71	4.81	4.81	0.61882	.	0.119147	0.53938	D	0.000050	T	0.59742	0.2216	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64309	-0.6438	10	0.87932	D	0	-14.5287	17.3836	0.87410	0.0:1.0:0.0:0.0	.	479;529	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	I	529;529;529;529;479	ENSP00000333456:R529I;ENSP00000353106:R529I;ENSP00000444210:R529I;ENSP00000401323:R529I;ENSP00000392578:R479I	ENSP00000333456:R529I	R	-	2	0	RAI2	17728466	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.060000	0.76692	2.376000	0.81061	0.600000	0.82982	AGA	RAI2	-	NULL		0.323	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	C	NM_021785		17818545	-1	no_errors	ENST00000331511	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17818545	C	A	17818545	3	1	131	1	0	0	0	0	1	0	0	0	13039	913	32	3	10	3	RAI2	23	17818545	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1647928	17818545	137452015	1948	22088										
RAI2	10742	genome.wustl.edu	37	chrX	17818979	17818979	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacgtggcaggggcaaaagaAatttccatgccactgggaag	14	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:17818979A>C	ENST00000545871.1	-	3	1612	c.1152T>G	c.(1150-1152)atT>atG	p.I384M	RAI2_ENST00000360011.1_Missense_Mutation_p.I384M|RAI2_ENST00000451717.1_Missense_Mutation_p.I384M|RAI2_ENST00000415486.3_Missense_Mutation_p.I334M|RAI2_ENST00000331511.1_Missense_Mutation_p.I384M	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	384					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGCAAAAGAAATTTCCATGC	0.557																																																	0													59	54	56					X																	17818979		2203	4300	6503	SO:0001583	missense	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1152T>G	X.37:g.17818979A>C	ENSP00000444210:p.Ile384Met		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	NULL	p.I384M	ENST00000545871.1	37	c.1152	CCDS14183.1	X	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.100277	0.00360	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.29	-0.499	0.12015	.	1.209090	0.05841	N	0.619325	T	0.10337	0.0253	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20605	-1.0270	10	0.41790	T	0.15	-0.3148	0.0746	0.00025	0.3092:0.223:0.1641:0.3036	.	334;384	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	M	384;384;384;384;334	ENSP00000333456:I384M;ENSP00000353106:I384M;ENSP00000444210:I384M;ENSP00000401323:I384M;ENSP00000392578:I334M	ENSP00000333456:I384M	I	-	3	3	RAI2	17728900	0.100000	0.21855	0.057000	0.19452	0.017000	0.09413	0.151000	0.16283	-0.116000	0.11893	-2.419000	0.00218	ATT	RAI2	-	NULL		0.557	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	A	NM_021785		17818979	-1	no_errors	ENST00000331511	ensembl	human	known	70_37	missense	SNP	0.012	C	C	17818979	A	C	17818979	3	2	131	1	0	0	0	0	1	0	0	0	13039	10	1	5	444	5	RAI2	23	17818979	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	434	17818979	137451581	1949	22089										
PHKA2	5256	genome.wustl.edu	37	chrX	18949833	18949833	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttccccataggaactcggtCtactgtgtgaggattcttgt	10	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:18949833C>A	ENST00000379942.4	-	12	1836	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	391					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAACTCGGTCTACTGTGTGA	0.498											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													237	189	205					X																	18949833		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1171G>T	X.37:g.18949833C>A	ENSP00000369274:p.Asp391Tyr	729	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.D391Y	ENST00000379942.4	37	c.1171	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	c	22.4	4.280933	0.80692	.	.	ENSG00000044446	ENST00000379942	D	0.91295	-2.82	5.28	5.28	0.74379	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.088152	0.85682	D	0.000000	D	0.95427	0.8515	M	0.85945	2.785	0.80722	D	1	D	0.54601	0.967	P	0.62491	0.903	D	0.95968	0.8967	10	0.72032	D	0.01	-24.7587	18.2663	0.90053	0.0:1.0:0.0:0.0	.	391	P46019	KPB2_HUMAN	Y	391	ENSP00000369274:D391Y	ENSP00000369274:D391Y	D	-	1	0	PHKA2	18859754	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.770000	0.85390	2.338000	0.79540	0.591000	0.81541	GAC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.498	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18949833	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18949833	C	A	18949833	3	1	131	1	0	0	0	0	1	0	0	0	11868	913	32	3	2624	3	PHKA2	23	18949833	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1130854	18949833	136320727	1950	22090										
GPR64	10149	genome.wustl.edu	37	chrX	19017237	19017237	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccagcgatactcctgaggtCttgaatactggtttttcgct	10	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:19017237C>A	ENST00000379869.3	-	26	2654	c.2491G>T	c.(2491-2493)Gac>Tac	p.D831Y	GPR64_ENST00000379876.1_Missense_Mutation_p.D807Y|GPR64_ENST00000357544.3_Missense_Mutation_p.D801Y|GPR64_ENST00000356606.4_Missense_Mutation_p.D817Y|GPR64_ENST00000354791.3_Missense_Mutation_p.D815Y|GPR64_ENST00000360279.4_Missense_Mutation_p.D809Y|GPR64_ENST00000379873.2_Missense_Mutation_p.D831Y|GPR64_ENST00000379878.3_Missense_Mutation_p.D815Y|GPR64_ENST00000340581.3_Missense_Mutation_p.D712Y|GPR64_ENST00000357991.3_Missense_Mutation_p.D828Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	831					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTCCTGAGGTCTTGAATACTG	0.453																																																	0													154	147	150					X																	19017237		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2491G>T	X.37:g.19017237C>A	ENSP00000369198:p.Asp831Tyr		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D831Y	ENST00000379869.3	37	c.2491	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551073	0.86127	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.88	5.88	0.94601	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000016	T	0.65668	0.2713	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;0.998;1.0;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.963;0.999;0.991;0.991;0.998;0.999;0.994;0.994;0.991;0.999	T	0.67166	-0.5739	10	0.72032	D	0.01	.	19.1599	0.93526	0.0:1.0:0.0:0.0	.	712;793;801;807;815;831;809;817;828;831;815	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	831;815;815;807;801;831;809;828;817;712	ENSP00000369202:D831Y;ENSP00000369207:D815Y;ENSP00000346845:D815Y;ENSP00000369205:D807Y;ENSP00000350152:D801Y;ENSP00000369198:D831Y;ENSP00000353421:D809Y;ENSP00000350680:D828Y;ENSP00000349015:D817Y;ENSP00000344972:D712Y	ENSP00000344972:D712Y	D	-	1	0	GPR64	18927158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.538000	0.60650	2.475000	0.83589	0.594000	0.82650	GAC	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.453	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19017237	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19017237	C	A	19017237	3	1	131	1	0	0	0	0	1	0	0	0	6724	913	32	3	578	3	GPR64	23	19017237	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	67404	19017237	136253323	1951	22091										
MAP3K15	389840	genome.wustl.edu	37	chrX	19418734	19418734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctctccctccagctccaccGtactgcctgctgtattggtt	7	16	1	0	rs555050902		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:19418734G>A	ENST00000338883.4	-	14	1891	c.1892C>T	c.(1891-1893)aCg>aTg	p.T631M	MAP3K15_ENST00000359173.3_Missense_Mutation_p.T66M|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T463M	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	631							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGCTCCACCGTACTGCCTGC	0.448													g|||	2	0.000529801	0	0	3775	,	,		15533	0		0.001	False		,,,				2504	0.001																0													359	307	325					X																	19418734		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1892C>T	X.37:g.19418734G>A	ENSP00000345629:p.Thr631Met		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T631M	ENST00000338883.4	37	c.1892		X	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623360	0.28889	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73047	-0.67;-0.71;-0.66	5.28	3.5	0.40072	.	0.415363	0.28161	N	0.016374	T	0.75796	0.3898	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.64042	0.921;0.911	T	0.65759	-0.6090	10	0.33141	T	0.24	.	10.9509	0.47327	0.156:0.0:0.844:0.0	.	106;631	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	M	631;66;463	ENSP00000345629:T631M;ENSP00000352093:T66M;ENSP00000428356:T463M	ENSP00000345629:T631M	T	-	2	0	MAP3K15	19328655	0.996000	0.38824	0.001000	0.08648	0.081000	0.17604	5.930000	0.70104	0.444000	0.26612	0.597000	0.82753	ACG	MAP3K15	-	NULL		0.448	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19418734	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.060	A	A	19418734	G	A	19418734	3	1	131	1	0	0	0	0	1	0	0	0	9272	1145	40	2	2113	2	MAP3K15	23	19418734	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	401497	19418734	135851826	1952	22092										
CNKSR2	22866	genome.wustl.edu	37	chrX	21613112	21613112	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatgaaaaagcagaaggattCattagcctgcctgaatttaa	9	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:21613112C>A	ENST00000379510.3	+	16	1887	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.F617L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F568L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.F587L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	617	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGAAGGATTCATTAGCCTGC	0.338																																																	0													56	53	54					X																	21613112		2203	4299	6502	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1851C>A	X.37:g.21613112C>A	ENSP00000368824:p.Phe617Leu		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.F617L	ENST00000379510.3	37	c.1851	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746045	0.69418	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.56	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	N	0.20986	0.625	0.46586	D	0.99911	B;D;D;D	0.76494	0.368;0.999;0.986;0.998	B;D;D;D	0.74348	0.382;0.977;0.972;0.983	T	0.68164	-0.5481	10	0.02654	T	1	-0.8453	11.7843	0.52032	0.0:0.8491:0.0:0.1509	.	587;568;209;617	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	587;568;617;617	ENSP00000397906:F587L;ENSP00000444633:F568L;ENSP00000279451:F617L;ENSP00000368824:F617L	ENSP00000279451:F617L	F	+	3	2	CNKSR2	21523033	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.889000	0.28282	1.224000	0.43551	0.538000	0.68166	TTC	CNKSR2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.338	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	C	NM_014927		21613112	1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21613112	C	A	21613112	3	1	131	1	0	0	0	0	1	0	0	0	3612	825	29	3	1913	3	CNKSR2	23	21613112	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2194378	21613112	133657448	1953	22093										
ZNF645	158506	genome.wustl.edu	37	chrX	22291431	22291431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagaattgaggcgcataaacGaggttctgtcttcatgtgta	12	6	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:22291431G>A	ENST00000323684.1	+	1	367	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	108	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GCGCATAAACGAGGTTCTGTC	0.423																																																	0													83	69	74					X																	22291431		2203	4300	6503	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.323G>A	X.37:g.22291431G>A	ENSP00000323348:p.Arg108Gln		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.R108Q	ENST00000323684.1	37	c.323	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464181	0.43736	.	.	ENSG00000175809	ENST00000323684	T	0.32515	1.45	3.48	-1.63	0.08345	.	0.157513	0.43579	N	0.000550	T	0.14874	0.0359	L	0.46157	1.445	0.09310	N	1	P	0.46952	0.887	B	0.30855	0.121	T	0.29852	-0.9998	10	0.30854	T	0.27	.	4.7725	0.13162	0.4335:0.1566:0.4099:0.0	.	108	Q8N7E2	ZN645_HUMAN	Q	108	ENSP00000323348:R108Q	ENSP00000323348:R108Q	R	+	2	0	ZNF645	22201352	0.266000	0.24112	0.000000	0.03702	0.008000	0.06430	1.747000	0.38298	-0.560000	0.06102	-0.297000	0.09499	CGA	ZNF645	-	NULL		0.423	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	HGNC	protein_coding	OTTHUMT00000056037.1	G	NM_152577		22291431	1	no_errors	ENST00000323684	ensembl	human	known	70_37	missense	SNP	0.003	A	A	22291431	G	A	22291431	3	1	131	1	0	0	0	0	1	0	0	0	18091	1058	37	1	325	1	ZNF645	23	22291431	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	678319	22291431	132979129	1954	22094										
POLA1	5422	genome.wustl.edu	37	chrX	25013932	25013932	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctttttagataaattgaaGaagcaattttttacccccaa	4	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:25013932G>T	ENST00000379059.3	+	37	4269	c.4254G>T	c.(4252-4254)aaG>aaT	p.K1418N	POLA1_ENST00000379068.3_Missense_Mutation_p.K1424N	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1418					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATAAATTGAAGAAGCAATTTT	0.403																																																	0													51	46	47					X																	25013932		2202	4300	6502	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.4254G>T	X.37:g.25013932G>T	ENSP00000368349:p.Lys1418Asn		Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.K1424N	ENST00000379059.3	37	c.4272	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194135	0.38707	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18338	2.22;2.23	5.61	4.75	0.60458	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.627918	0.16355	N	0.218051	T	0.17746	0.0426	M	0.66939	2.045	0.38711	D	0.953218	B	0.09022	0.002	B	0.09377	0.004	T	0.06445	-1.0826	10	0.31617	T	0.26	-5.9011	5.9343	0.19156	0.1588:0.0:0.6865:0.1547	.	1418	P09884	DPOLA_HUMAN	N	1424;1418	ENSP00000368358:K1424N;ENSP00000368349:K1418N	ENSP00000368349:K1418N	K	+	3	2	POLA1	24923853	1.000000	0.71417	0.396000	0.26296	0.357000	0.29423	2.621000	0.46418	1.150000	0.42419	0.523000	0.50628	AAG	POLA1	-	pfam_Znf_DNA-dir_DNA_pol_B_alpha		0.403	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	G	NM_016937		25013932	1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	0.557	T	T	25013932	G	T	25013932	3	4	131	1	0	0	0	0	1	0	0	0	12211	933	33	3	4400	3	POLA1	23	25013932	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2722501	25013932	130256628	1955	22095										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766685	27766685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggttaaagaaggtgattaAgaagaacaagtgggaacgag	15	2	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:27766685A>C	ENST00000451261.2	+	5	2072	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	558										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAGGTGATTAAGAAGAACAAG	0.507																																																	0													132	96	107					X																	27766685		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1673A>C	X.37:g.27766685A>C	ENSP00000462745:p.Lys558Thr		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K558T	ENST00000451261.2	37	c.1673	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.507	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	A	XM_293354		27766685	1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27766685	A	C	27766685	3	2	131	1	0	0	0	0	1	0	0	0	4283	72	3	5	1675	5	DCAF8L2	23	27766685	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2752753	27766685	127503875	1956	22096										
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29301120	29301120	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttttggtgggagagcctgttCgaatcaaatgtgcactcttt	11	7	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:29301120C>T	ENST00000378993.1	+	3	821	c.148C>T	c.(148-150)Cga>Tga	p.R50*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.R50*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	50	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R50*(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGCCTGTTCGAATCAAATG	0.413																																																	2	Substitution - Nonsense(2)	large_intestine(2)											143	126	132					X																	29301120		2202	4300	6502	SO:0001587	stop_gained	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.148C>T	X.37:g.29301120C>T	ENSP00000368278:p.Arg50*		A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.R50*	ENST00000378993.1	37	c.148	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	C	43	9.909426	0.99293	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.51	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.7032	0.62622	0.1586:0.8414:0.0:0.0	.	.	.	.	X	50	.	ENSP00000305200:R50X	R	+	1	2	IL1RAPL1	29211041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	1.161000	0.42604	0.600000	0.82982	CGA	IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	C	NM_014271		29301120	1	no_errors	ENST00000302196	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29301120	C	T	29301120	4	4	131	1	0	0	0	0	0	1	0	0	7681	876	31	1	154	1	IL1RAPL1	23	29301120	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1534435	29301120	125969440	1957	22097										
MAGEB1	4112	genome.wustl.edu	37	chrX	30268673	30268673	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgccgcaaggcgcgagaggaGacccagggtctcaaggttgc	16	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:30268673G>T	ENST00000378981.3	+	4	384	c.63G>T	c.(61-63)gaG>gaT	p.E21D	MAGEB1_ENST00000397550.1_Missense_Mutation_p.E21D|MAGEB1_ENST00000397548.2_Missense_Mutation_p.E21D	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	21										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGCGAGAGGAGACCCAGGGTC	0.592																																																	0													43	33	36					X																	30268673		2202	4299	6501	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.63G>T	X.37:g.30268673G>T	ENSP00000368264:p.Glu21Asp		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E21D	ENST00000378981.3	37	c.63	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160020	0.38119	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.15487	2.42;2.42;2.42	3.99	-2.45	0.06481	Melanoma associated antigen, MAGE, N-terminal (1);	0.896444	0.09495	N	0.794412	T	0.34193	0.0889	M	0.84585	2.705	0.09310	N	1	D	0.61697	0.99	D	0.70487	0.969	T	0.24333	-1.0163	10	0.45353	T	0.12	.	0.1698	0.00112	0.2992:0.1465:0.2526:0.3016	.	21	P43366	MAGB1_HUMAN	D	21	ENSP00000368264:E21D;ENSP00000380683:E21D;ENSP00000380681:E21D	ENSP00000368264:E21D	E	+	3	2	MAGEB1	30178594	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.243000	0.08915	-0.797000	0.04450	-0.169000	0.13324	GAG	MAGEB1	-	pfam_Melanoma_ass_antigen_N		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	G	NM_002363		30268673	1	no_errors	ENST00000378981	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30268673	G	T	30268673	3	4	131	1	0	0	0	0	1	0	0	0	9195	933	33	3	65	3	MAGEB1	23	30268673	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	967553	30268673	125001887	1958	22098										
DMD	1756	genome.wustl.edu	37	chrX	31196837	31196837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcactggcaggtagcccattCggggatgcttcgcaaaatac	12	11	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:31196837C>T	ENST00000357033.4	-	70	10378	c.10172G>A	c.(10171-10173)cGa>cAa	p.R3391Q	DMD_ENST00000378680.2_Missense_Mutation_p.R323Q|DMD_ENST00000378707.3_Missense_Mutation_p.R931Q|DMD_ENST00000361471.4_Missense_Mutation_p.R323Q|DMD_ENST00000474231.1_Missense_Mutation_p.R931Q|DMD_ENST00000343523.2_Missense_Mutation_p.R931Q|DMD_ENST00000378677.2_Missense_Mutation_p.R3387Q|DMD_ENST00000359836.1_Missense_Mutation_p.R931Q|DMD_ENST00000378723.3_Missense_Mutation_p.R323Q|DMD_ENST00000541735.1_Missense_Mutation_p.R931Q|DMD_ENST00000378702.4_Missense_Mutation_p.R323Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3391	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTAGCCCATTCGGGGATGCTT	0.423																																																	0			GRCh37	CI072563	DMD	I							203	159	174					X																	31196837		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10172G>A	X.37:g.31196837C>T	ENSP00000354923:p.Arg3391Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.R3391Q	ENST00000357033.4	37	c.10172	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.491130	0.96339	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.3	5.3	0.74995	.	0.000000	0.31020	U	0.008402	D	0.89698	0.6790	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D;P;D;P;P	0.89917	0.962;0.998;0.998;1.0;0.996;0.996;0.826;0.996;0.996;1.0;1.0;0.96;0.855;0.998;0.792;0.897	B;P;P;P;P;P;P;P;P;P;D;P;B;P;B;B	0.66196	0.194;0.867;0.652;0.86;0.47;0.47;0.502;0.783;0.709;0.876;0.942;0.527;0.336;0.861;0.228;0.267	D	0.88765	0.3260	10	0.39692	T	0.17	.	18.0665	0.89392	0.0:1.0:0.0:0.0	.	323;3383;3391;3387;2050;2047;931;931;931;931;931;3268;323;323;323;323	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	3383;2050;2047;323;1087;3387;3391;931;931;3391;3268;931;931;323;931;323;323;181	ENSP00000367997:R323Q;ENSP00000350765:R1087Q;ENSP00000367948:R3387Q;ENSP00000354923:R3391Q;ENSP00000352894:R931Q;ENSP00000340057:R931Q;ENSP00000367979:R931Q;ENSP00000444119:R931Q;ENSP00000367974:R323Q;ENSP00000417123:R931Q;ENSP00000354464:R323Q;ENSP00000367951:R323Q;ENSP00000367977:R181Q	ENSP00000340057:R931Q	R	-	2	0	DMD	31106758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.541000	0.67212	2.458000	0.83093	0.600000	0.82982	CGA	DMD	-	pirsf_Dystrophin/utrophin		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31196837	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31196837	C	T	31196837	3	4	131	1	0	0	0	0	1	0	0	0	4590	884	31	1	1015	1	DMD	23	31196837	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	928164	31196837	124073723	1959	22099										
DMD	1756	genome.wustl.edu	37	chrX	31496411	31496411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcggagtgcaggttcaattTttcccactcagtattgacct	9	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:31496411T>G	ENST00000357033.4	-	59	8955	c.8749A>C	c.(8749-8751)Aaa>Caa	p.K2917Q	DMD_ENST00000359836.1_Missense_Mutation_p.K457Q|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000378707.3_Missense_Mutation_p.K457Q|DMD_ENST00000343523.2_Missense_Mutation_p.K457Q|DMD_ENST00000378677.2_Missense_Mutation_p.K2913Q|DMD_ENST00000474231.1_Missense_Mutation_p.K457Q|DMD_ENST00000541735.1_Missense_Mutation_p.K457Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2917					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGTTCAATTTTTCCCACTCA	0.502																																																	0													72	66	68					X																	31496411		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8749A>C	X.37:g.31496411T>G	ENSP00000354923:p.Lys2917Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.K2917Q	ENST00000357033.4	37	c.8749	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.46|13.46	2.244684|2.244684	0.39697|0.39697	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	5.4|5.4	4.23|4.23	0.50019|0.50019	.|.	0.000000|0.000000	0.38720|0.38720	U|U	0.001596|0.001596	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.49126|0.49126	1.545|1.545	0.27380|0.27380	N|N	0.955431|0.955431	B;B;P;B;B;B;B;B;B;B;B|.	0.48764|.	0.119;0.085;0.915;0.158;0.158;0.09;0.029;0.029;0.085;0.138;0.232|.	B;B;B;B;B;B;B;B;B;B;B|.	0.42062|.	0.211;0.017;0.374;0.046;0.046;0.055;0.017;0.017;0.017;0.037;0.113|.	T|T	0.32375|0.32375	-0.9909|-0.9909	10|6	0.28530|.	T|.	0.3|.	.|.	10.0414|10.0414	0.42160|0.42160	0.0:0.0801:0.0:0.9199|0.0:0.0801:0.0:0.9199	.|.	2909;2917;2913;1576;1573;457;457;457;457;457;2794|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	Q|T	2909;1576;1573;613;2913;2917;457;457;2917;2794;457;457;457|645	ENSP00000350765:K613Q;ENSP00000367948:K2913Q;ENSP00000354923:K2917Q;ENSP00000352894:K457Q;ENSP00000340057:K457Q;ENSP00000367979:K457Q;ENSP00000444119:K457Q;ENSP00000417123:K457Q|.	ENSP00000340057:K457Q|.	K|K	-|-	1|2	0|0	DMD|DMD	31406332|31406332	0.510000|0.510000	0.26171|0.26171	0.996000|0.996000	0.52242|0.52242	0.982000|0.982000	0.71751|0.71751	2.142000|2.142000	0.42177|0.42177	1.916000|1.916000	0.55485|0.55485	0.430000|0.430000	0.28490|0.28490	AAA|AAA	DMD	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.502	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	T	NM_004006		31496411	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.839	G	G	31496411	T	G	31496411	3	3	131	1	0	0	0	0	1	0	0	0	4590	1850	64	5	2506	5	DMD	23	31496411	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	299574	31496411	123774149	1960	22100										
DMD	1756	genome.wustl.edu	37	chrX	31950329	31950329	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgaaattctgacaagatattCttttgttcttctagcctgga	7	7	4	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:31950329C>A	ENST00000357033.4	-	46	6836	c.6630G>T	c.(6628-6630)aaG>aaT	p.K2210N	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2206N|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2210					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACAAGATATTCTTTTGTTCTT	0.323																																																	0													54	51	52					X																	31950329		2201	4299	6500	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6630G>T	X.37:g.31950329C>A	ENSP00000354923:p.Lys2210Asn		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.K2210N	ENST00000357033.4	37	c.6630	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	c	15.69	2.908617	0.52439	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34859	1.34;1.34	5.81	5.81	0.92471	.	0.000000	0.36338	U	0.002645	T	0.32763	0.0840	L	0.29908	0.895	0.80722	D	1	B;P;P;P;P;P	0.48230	0.056;0.728;0.907;0.608;0.895;0.608	B;B;B;B;P;B	0.44518	0.056;0.372;0.444;0.205;0.452;0.149	T	0.02958	-1.1089	10	0.16896	T	0.51	.	19.0034	0.92842	0.0:1.0:0.0:0.0	.	869;2202;2210;2206;869;866	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	N	2202;869;866;2206;2210;2210;2087	ENSP00000367948:K2206N;ENSP00000354923:K2210N	ENSP00000354923:K2210N	K	-	3	2	DMD	31860250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.289000	0.51747	2.437000	0.82529	0.591000	0.81541	AAG	DMD	-	pirsf_Dystrophin/utrophin		0.323	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31950329	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31950329	C	A	31950329	3	1	131	1	0	0	0	0	1	0	0	0	4590	912	32	3	4711	3	DMD	23	31950329	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	453918	31950329	123320231	1961	22101										
CXorf59	286464	genome.wustl.edu	37	chrX	36090079	36090079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgaacctgcaaagggaaacTtatttattggtatgtagcaa	9	6	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:36090079T>G	ENST00000313548.4	+	3	367	c.181T>G	c.(181-183)Tta>Gta	p.L61V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	61						integral component of membrane (GO:0016021)											AAAGGGAAACTTATTTATTGG	0.348																																																	0													59	53	55					X																	36090079		2202	4300	6502	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.181T>G	X.37:g.36090079T>G	ENSP00000324767:p.Leu61Val			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.L61V	ENST00000313548.4	37	c.181	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	T	8.471	0.857462	0.17106	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	3.79	-0.566	0.11767	.	0.643341	0.11904	N	0.518326	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B	0.25441	0.126	B	0.22753	0.041	T	0.21449	-1.0245	9	0.22706	T	0.39	-0.9872	2.4984	0.04627	0.2256:0.3456:0.0:0.4288	.	61	Q8N9S7	CX059_HUMAN	V	61	.	ENSP00000324767:L61V	L	+	1	2	CXorf59	36000000	0.010000	0.17322	0.000000	0.03702	0.043000	0.13939	0.120000	0.15647	-0.196000	0.10366	-0.367000	0.07326	TTA	CXorf59	-	NULL		0.348	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf59	HGNC	protein_coding		T	NM_173695		36090079	1	no_errors	ENST00000313548	ensembl	human	known	70_37	missense	SNP	0.000	G	G	36090079	T	G	36090079	3	3	131	1	0	0	0	0	1	0	0	0	4120	1606	56	5	187	5	CXorf59	23	36090079	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	4139750	36090079	119180481	1962	22102										
CXorf59	286464	genome.wustl.edu	37	chrX	36117987	36117987	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggacagatgtatttctacaGatatacaaggtaacatttcc	7	7	1	2	rs267606444		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:36117987G>T	ENST00000313548.4	+	7	1029	c.843G>T	c.(841-843)caG>caT	p.Q281H		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	281						integral component of membrane (GO:0016021)											TATTTCTACAGATATACAAGG	0.328																																																	0													101	114	110					X																	36117987		2202	4299	6501	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.843G>T	X.37:g.36117987G>T	ENSP00000324767:p.Gln281His			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.Q281H	ENST00000313548.4	37	c.843	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	g	14.50	2.555194	0.45487	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	-0.197	0.13228	.	0.000000	0.56097	D	0.000028	T	0.63212	0.2492	M	0.73962	2.25	0.21416	N	0.999698	D	0.89917	1.0	D	0.87578	0.998	T	0.58200	-0.7678	9	0.87932	D	0	-13.2623	10.1129	0.42574	0.5792:0.0:0.4208:0.0	.	281	Q8N9S7	CX059_HUMAN	H	281	.	ENSP00000324767:Q281H	Q	+	3	2	CXorf59	36027908	1.000000	0.71417	0.879000	0.34478	0.707000	0.40811	0.841000	0.27613	-0.566000	0.06054	-1.138000	0.01928	CAG	CXorf59	-	NULL		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf59	HGNC	protein_coding		G	NM_173695		36117987	1	no_errors	ENST00000313548	ensembl	human	known	70_37	missense	SNP	0.963	T	T	36117987	G	T	36117987	3	4	131	1	0	0	0	0	1	0	0	0	4120	933	33	3	865	3	CXorf59	23	36117987	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	27908	36117987	119152573	1963	22103										
RPGR	6103	genome.wustl.edu	37	chrX	38156574	38156574	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgaggtcctgttcagataaGacactctcttggaggtttct	10	8	3	3	rs62653029		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:38156574G>C	ENST00000339363.3	-	11	1544	c.1377C>G	c.(1375-1377)gtC>gtG	p.V459V	RPGR_ENST00000338898.3_Silent_p.V459V|RPGR_ENST00000378505.2_Silent_p.V459V|RPGR_ENST00000309513.3_Silent_p.V397V|RPGR_ENST00000342811.3_Silent_p.V459V|RPGR_ENST00000318842.7_Silent_p.V459V|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	459					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTTCAGATAAGACACTCTCTT	0.443																																																	0													118	108	111					X																	38156574		2202	4300	6502	SO:0001819	synonymous_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1377C>G	X.37:g.38156574G>C			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V459	ENST00000339363.3	37	c.1377		X																																																																																			RPGR	-	NULL		0.443	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38156574	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	silent	SNP	0.000	C	C	38156574	G	C	38156574	2	2	131	1	0	0	0	0	0	0	0	1	13578	929	33	1		1	RPGR	23	38156574	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2038587	38156574	117113986	1964	22104										
BCOR	54880	genome.wustl.edu	37	chrX	39913549	39913549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aagtcccaagtgccactggcGtcatcatcattgcgaccctg	9	14	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:39913549G>A	ENST00000378444.4	-	13	5007	c.4779C>T	c.(4777-4779)gaC>gaT	p.D1593D	BCOR_ENST00000397354.3_Silent_p.D1559D|BCOR_ENST00000378463.1_Silent_p.D436D|BCOR_ENST00000378455.4_Silent_p.D1541D|BCOR_ENST00000342274.4_Silent_p.D1559D	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1593					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCCACTGGCGTCATCATCAT	0.423			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59	50	53					X																	39913549		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4779C>T	X.37:g.39913549G>A			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1593	ENST00000378444.4	37	c.4779	CCDS48093.1	X																																																																																			BCOR	-	NULL		0.423	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39913549	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	silent	SNP	0.996	A	A	39913549	G	A	39913549	2	1	131	1	0	0	0	0	0	0	0	1	1387	1136	40	2		2	BCOR	23	39913549	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1756975	39913549	115357011	1965	22105										
ATP6AP2	10159	genome.wustl.edu	37	chrX	40464971	40464971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggatatgatagcatcatTtataggatgacaaaccagaa	8	7	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:40464971T>G	ENST00000378438.4	+	9	1175	c.1017T>G	c.(1015-1017)atT>atG	p.I339M	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.I307M|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.I261M|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.I263M	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	339					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						ATAGCATCATTTATAGGATGA	0.368																																																	0													99	84	89					X																	40464971		2203	4300	6503	SO:0001583	missense	10159			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"prorenin receptor", "renin receptor"	300556	"ATPase, H+ transporting, lysosomal interacting protein 2"	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.1017T>G	X.37:g.40464971T>G	ENSP00000367697:p.Ile339Met		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	pfam_Renin_rcpt	p.I339M	ENST00000378438.4	37	c.1017	CCDS14252.1	X	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328979	0.60743	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.65	1.73	0.24493	.	0.088650	0.85682	D	0.000000	T	0.72220	0.3433	M	0.86268	2.805	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.81914	0.995;0.906;0.986;0.991	T	0.67488	-0.5658	10	0.49607	T	0.09	-26.5536	5.7998	0.18408	0.1259:0.1408:0.0:0.7333	.	261;307;263;339	B7Z1I9;B7Z9I3;B7Z413;O75787	.;.;.;RENR_HUMAN	M	307;339;263;261	ENSP00000438415:I307M;ENSP00000367697:I339M;ENSP00000440459:I263M;ENSP00000441536:I261M	ENSP00000367697:I339M	I	+	3	3	ATP6AP2	40349915	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.998000	0.40796	-0.039000	0.13602	0.486000	0.48141	ATT	ATP6AP2	-	pfam_Renin_rcpt		0.368	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP2	HGNC	protein_coding	OTTHUMT00000060679.1	T	NM_005765		40464971	1	no_errors	ENST00000378438	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40464971	T	G	40464971	3	3	131	1	0	0	0	0	1	0	0	0	1168	1829	64	5	1051	5	ATP6AP2	23	40464971	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	551422	40464971	114805589	1966	22106										
MED14	9282	genome.wustl.edu	37	chrX	40518558	40518558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttggtgaaggctattaacGtattagctttaaatggtggt	12	4	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:40518558G>A	ENST00000324817.1	-	28	4011	c.3893C>T	c.(3892-3894)aCg>aTg	p.T1298M		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1298					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTATTAACGTATTAGCTTT	0.373																																																	0													97	73	81					X																	40518558		2169	4237	6406	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3893C>T	X.37:g.40518558G>A	ENSP00000323720:p.Thr1298Met		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.T1298M	ENST00000324817.1	37	c.3893	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407591	0.83340	.	.	ENSG00000180182	ENST00000324817;ENST00000416199;ENST00000433003	T;T	0.55413	0.52;0.52	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.70249	-0.4924	10	0.72032	D	0.01	.	18.1643	0.89719	0.0:0.0:1.0:0.0	.	1298;1298	A8KAK5;O60244	.;MED14_HUMAN	M	1298;10;197	ENSP00000323720:T1298M;ENSP00000411357:T197M	ENSP00000323720:T1298M	T	-	2	0	MED14	40403502	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	9.476000	0.97823	2.226000	0.72624	0.600000	0.82982	ACG	MED14	-	NULL		0.373	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	G	NM_004229		40518558	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40518558	G	A	40518558	3	1	131	1	0	0	0	0	1	0	0	0	9455	1145	40	2	487	2	MED14	23	40518558	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	53587	40518558	114752002	1967	22107										
MED14	9282	genome.wustl.edu	37	chrX	40539379	40539379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	taatggagcctgagtatcaaAcagtacctataaggaacaaa	8	7	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:40539379A>G	ENST00000324817.1	-	21	2735	c.2617T>C	c.(2617-2619)Ttt>Ctt	p.F873L	MED14_ENST00000496531.2_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	873					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGTATCAAACAGTACCTAT	0.423																																																	0													111	98	102					X																	40539379		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2617T>C	X.37:g.40539379A>G	ENSP00000323720:p.Phe873Leu		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.F873L	ENST00000324817.1	37	c.2617	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068411	0.36470	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.9	5.9	0.94986	.	0.183640	0.56097	D	0.000033	T	0.42017	0.1184	N	0.22421	0.69	0.47659	D	0.999489	B	0.12630	0.006	B	0.09377	0.004	T	0.34378	-0.9831	9	0.08837	T	0.75	.	15.2651	0.73654	1.0:0.0:0.0:0.0	.	873	O60244	MED14_HUMAN	L	873	.	ENSP00000323720:F873L	F	-	1	0	MED14	40424323	1.000000	0.71417	0.910000	0.35882	0.954000	0.61252	8.864000	0.92294	1.988000	0.58038	0.481000	0.45027	TTT	MED14	-	NULL		0.423	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	A	NM_004229		40539379	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	0.990	G	G	40539379	A	G	40539379	3	3	131	1	0	0	0	0	1	0	0	0	9455	43	2	5	1791	5	MED14	23	40539379	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	20821	40539379	114731181	1968	22108										
USP9X	8239	genome.wustl.edu	37	chrX	41055534	41055534	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caggtggcacaggagcagttCtttttaatgtgcaccagatg	12	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:41055534C>A	ENST00000324545.8	+	27	4641	c.4008C>A	c.(4006-4008)ttC>ttA	p.F1336L	USP9X_ENST00000378308.2_Missense_Mutation_p.F1336L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1336					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGAGCAGTTCTTTTTAATGT	0.353																																					Ovarian(172;1807 2695 35459 49286)												0													166	158	161					X																	41055534		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4008C>A	X.37:g.41055534C>A	ENSP00000316357:p.Phe1336Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.F1336L	ENST00000324545.8	37	c.4008	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	8.560	0.877655	0.17395	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.52983	0.64;0.64	5.18	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.26042	0.785	0.50632	D	0.999888	B;B	0.28291	0.206;0.078	B;B	0.32533	0.147;0.038	T	0.08554	-1.0716	10	0.02654	T	1	.	9.5731	0.39440	0.0:0.7624:0.0:0.2376	.	1336;1336	Q93008-1;Q93008	.;USP9X_HUMAN	L	1336	ENSP00000367558:F1336L;ENSP00000316357:F1336L	ENSP00000316357:F1336L	F	+	3	2	USP9X	40940478	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.412000	0.34714	1.088000	0.41272	-0.295000	0.09555	TTC	USP9X	-	NULL		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	C	NM_004652		41055534	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41055534	C	A	41055534	3	1	131	1	0	0	0	0	1	0	0	0	17121	912	32	3	4110	3	USP9X	23	41055534	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	516155	41055534	114215026	1969	22109										
GPR34	2857	genome.wustl.edu	37	chrX	41555200	41555200	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcagacctcctactcatctTctgcctccctttccgaataa	4	16	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:41555200T>G	ENST00000378142.4	+	3	598	c.314T>G	c.(313-315)tTc>tGc	p.F105C	CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F105C|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	105					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CTACTCATCTTCTGCCTCCCT	0.383																																																	0													149	138	141					X																	41555200		2203	4300	6503	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.314T>G	X.37:g.41555200T>G	ENSP00000367384:p.Phe105Cys		O95853	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.F105C	ENST00000378142.4	37	c.314	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885690	0.51908	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.38077	1.16;1.16	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.251216	0.40908	D	0.000998	T	0.52403	0.1732	L	0.46670	1.46	0.37054	D	0.897754	D	0.69078	0.997	D	0.67382	0.951	T	0.58393	-0.7644	10	0.48119	T	0.1	-17.1108	15.3733	0.74584	0.0:0.0:0.0:1.0	.	105	Q9UPC5	GPR34_HUMAN	C	105;105;58	ENSP00000367384:F105C;ENSP00000367378:F105C	ENSP00000367378:F105C	F	+	2	0	GPR34	41440144	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.150000	0.64869	2.014000	0.59158	0.481000	0.45027	TTC	GPR34	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.383	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	T	NM_005300		41555200	1	no_errors	ENST00000378138	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41555200	T	G	41555200	3	3	131	1	0	0	0	0	1	0	0	0	6708	1783	62	5	316	5	GPR34	23	41555200	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	499666	41555200	113715360	1970	22110										
SLC9A7	84679	genome.wustl.edu	37	chrX	46466593	46466593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtcaatgtcaggtcgccttCggtcaggatgaaatcagagt	13	8	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:46466593C>T	ENST00000328306.4	-	17	1997	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	658					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGTCGCCTTCGGTCAGGATG	0.517																																					Pancreas(118;454 1696 1930 13865 39976)												0													57	42	47					X																	46466593		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1972G>A	X.37:g.46466593C>T	ENSP00000330320:p.Glu658Lys		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E658K	ENST00000328306.4	37	c.1972	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250408	0.59212	.	.	ENSG00000065923	ENST00000328306	T	0.35236	1.32	5.1	5.1	0.69264	.	0.049759	0.85682	D	0.000000	T	0.27798	0.0684	L	0.40543	1.245	0.54753	D	0.99998	P	0.39883	0.693	B	0.29942	0.109	T	0.06320	-1.0833	10	0.23891	T	0.37	.	17.7099	0.88319	0.0:1.0:0.0:0.0	.	658	Q96T83	SL9A7_HUMAN	K	658	ENSP00000330320:E658K	ENSP00000330320:E658K	E	-	1	0	SLC9A7	46351537	1.000000	0.71417	0.887000	0.34795	0.460000	0.32559	7.184000	0.77705	2.368000	0.80403	0.590000	0.80494	GAA	SLC9A7	-	NULL		0.517	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	C	NM_032591		46466593	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	0.998	T	T	46466593	C	T	46466593	3	4	131	1	0	0	0	0	1	0	0	0	14749	893	31	1	209	1	SLC9A7	23	46466593	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	4911393	46466593	108803967	1971	22111										
PHF16	9767	genome.wustl.edu	37	chrX	46898451	46898451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	caacttgtgcaagttgaagaCgggggcttgtattcaggtaa	13	6	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:46898451C>T	ENST00000218343.4	+	8	1254	c.956C>T	c.(955-957)aCg>aTg	p.T319M	PHF16_ENST00000397189.1_Missense_Mutation_p.T319M	NM_014735.3	NP_055550.1												p.T319M(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAGTTGAAGACGGGGGCTTGT	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											91	76	81					X																	46898451		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.956C>T	X.37:g.46898451C>T	ENSP00000218343:p.Thr319Met			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T319M	ENST00000218343.4	37	c.956	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777355	0.70107	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.14144	2.53;2.53	5.49	3.73	0.42828	Zinc finger, PHD-type (1);	0.098312	0.64402	N	0.000001	T	0.13114	0.0318	N	0.17594	0.5	0.58432	D	0.999999	P	0.52577	0.954	P	0.52514	0.701	T	0.10800	-1.0614	10	0.21540	T	0.41	.	11.164	0.48533	0.0:0.847:0.0:0.153	.	319	Q92613	JADE3_HUMAN	M	319	ENSP00000380373:T319M;ENSP00000218343:T319M	ENSP00000218343:T319M	T	+	2	0	PHF16	46783395	0.987000	0.35691	0.956000	0.39512	0.987000	0.75469	2.422000	0.44696	0.507000	0.28148	0.513000	0.50165	ACG	PHF16	-	smart_Znf_PHD		0.532	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	C			46898451	1	no_errors	ENST00000218343	ensembl	human	known	70_37	missense	SNP	0.998	T	T	46898451	C	T	46898451	3	4	131	1	0	0	0	0	1	0	0	0	11851	536	19	2	982	2	PHF16	23	46898451	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	431858	46898451	108372109	1972	22112										
PHF16	9767	genome.wustl.edu	37	chrX	46918324	46918324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gctattgcccagatttggagCtgagtgattcagaggcagaa	13	7	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:46918324C>T	ENST00000218343.4	+	11	2615	c.2317C>T	c.(2317-2319)Ctg>Ttg	p.L773L	PHF16_ENST00000397189.1_Silent_p.L773L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGATTTGGAGCTGAGTGATTC	0.493																																																	0													44	38	40					X																	46918324		2203	4300	6503	SO:0001819	synonymous_variant	9767																														ENST00000218343.4:c.2317C>T	X.37:g.46918324C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L773	ENST00000218343.4	37	c.2317	CCDS14271.1	X																																																																																			PHF16	-	NULL		0.493	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	C			46918324	1	no_errors	ENST00000218343	ensembl	human	known	70_37	silent	SNP	0.983	T	T	46918324	C	T	46918324	2	4	131	1	0	0	0	0	0	0	0	1	11851	796	28	4		4	PHF16	23	46918324	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	19873	46918324	108352236	1973	22113										
ZNF157	7712	genome.wustl.edu	37	chrX	47272521	47272521	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gactctcaataatcatcaaaGaactcacacaggtgaaaagc	6	10	4	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47272521G>T	ENST00000377073.3	+	4	1135	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AATCATCAAAGAACTCACACA	0.418																																																	0													43	38	40					X																	47272521		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1049G>T	X.37:g.47272521G>T	ENSP00000366273:p.Arg350Ile		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R350I	ENST00000377073.3	37	c.1049	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174045	0.57692	.	.	ENSG00000147117	ENST00000377073	T	0.02446	4.29	3.18	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.62209	1.925	0.39608	D	0.969838	D	0.76494	0.999	D	0.68943	0.961	T	0.03095	-1.1073	9	0.56958	D	0.05	.	9.3997	0.38424	0.0:0.2161:0.7839:0.0	.	350	P51786	ZN157_HUMAN	I	350	ENSP00000366273:R350I	ENSP00000366273:R350I	R	+	2	0	ZNF157	47157465	0.004000	0.15560	1.000000	0.80357	0.987000	0.75469	0.548000	0.23314	0.690000	0.31570	0.600000	0.82982	AGA	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272521	1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47272521	G	T	47272521	3	4	131	1	0	0	0	0	1	0	0	0	17767	942	33	3	1063	3	ZNF157	23	47272521	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	354197	47272521	107998039	1974	22114										
ZNF41	7592	genome.wustl.edu	37	chrX	47307793	47307793	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttttctccagtatgaattCtctgatgtgtgttgaaatgt	9	6	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47307793C>A	ENST00000377065.4	-	5	2015	c.1376G>T	c.(1375-1377)aGa>aTa	p.R459I	ZNF41_ENST00000397050.2_Missense_Mutation_p.R469I|ZNF41_ENST00000313116.7_Missense_Mutation_p.R459I|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGTATGAATTCTCTGATGTGT	0.453																																																	0													85	79	81					X																	47307793		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1376G>T	X.37:g.47307793C>A	ENSP00000366265:p.Arg459Ile		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R469I	ENST00000377065.4	37	c.1406	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834255	0.50951	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.24908	1.83;1.83;1.83	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38436	N	0.001693	T	0.40145	0.1105	L	0.49778	1.585	0.38259	D	0.941824	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.951;0.951;0.998;0.967;0.98	T	0.25745	-1.0123	10	0.41790	T	0.15	.	8.836	0.35113	0.0:0.7755:0.2245:0.0	.	459;461;469;493;501	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	I	459;459;469	ENSP00000315173:R459I;ENSP00000366265:R459I;ENSP00000380243:R469I	ENSP00000315173:R459I	R	-	2	0	ZNF41	47192737	0.002000	0.14202	1.000000	0.80357	0.942000	0.58702	0.114000	0.15520	2.246000	0.74042	0.600000	0.82982	AGA	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	C	NM_153380		47307793	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47307793	C	A	47307793	3	1	131	1	0	0	0	0	1	0	0	0	17919	913	32	3	967	3	ZNF41	23	47307793	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	35272	47307793	107962767	1975	22115										
ZNF41	7592	genome.wustl.edu	37	chrX	47307961	47307961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctctccggtatgagttTtctgatgtatactgaggtct	10	7	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47307961T>A	ENST00000377065.4	-	5	1847	c.1208A>T	c.(1207-1209)aAa>aTa	p.K403I	ZNF41_ENST00000397050.2_Missense_Mutation_p.K413I|ZNF41_ENST00000313116.7_Missense_Mutation_p.K403I|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GGTATGAGTTTTCTGATGTAT	0.423																																																	0													90	83	85					X																	47307961		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1208A>T	X.37:g.47307961T>A	ENSP00000366265:p.Lys403Ile		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K413I	ENST00000377065.4	37	c.1238	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851495	0.51270	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.01092	5.35;5.35;5.35	3.57	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002055	T	0.02649	0.0080	L	0.38838	1.175	0.22591	N	0.998959	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;0.998	D;D;D;D;D	0.91635	0.931;0.931;0.999;0.931;0.959	T	0.42344	-0.9457	10	0.66056	D	0.02	.	5.4847	0.16743	0.0:0.4049:0.0:0.5951	.	403;405;413;437;445	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	I	403;403;413	ENSP00000315173:K403I;ENSP00000366265:K403I;ENSP00000380243:K413I	ENSP00000315173:K403I	K	-	2	0	ZNF41	47192905	0.000000	0.05858	0.991000	0.47740	0.995000	0.86356	-0.156000	0.10100	0.143000	0.18926	0.481000	0.45027	AAA	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	T	NM_153380		47307961	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	0.994	A	A	47307961	T	A	47307961	3	1	131	1	0	0	0	0	1	0	0	0	17919	1841	64	5	1135	5	ZNF41	23	47307961	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	168	47307961	107962599	1976	22116										
ZNF630	57232	genome.wustl.edu	37	chrX	47918395	47918395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctctccagtatgaagtCtttgatggccagtgaggtgt	12	7	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47918395C>A	ENST00000409324.3	-	5	1662	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.R355I|ZNF630_ENST00000442455.3_Missense_Mutation_p.R465I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGAAGTCTTTGATGGCC	0.418																																																	0													67	66	66					X																	47918395		2195	4287	6482	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1436G>T	X.37:g.47918395C>A	ENSP00000386393:p.Arg479Ile		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R479I	ENST00000409324.3	37	c.1436	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	13.46	2.244721	0.39697	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.41	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	L	0.52266	1.64	0.32813	D	0.501701	D	0.89917	1.0	D	0.72625	0.978	T	0.46582	-0.9181	9	0.56958	D	0.05	.	6.5336	0.22339	0.0:0.8331:0.0:0.1669	.	479	Q2M218	ZN630_HUMAN	I	465;355;479	ENSP00000393163:R465I;ENSP00000354683:R355I;ENSP00000386393:R479I	ENSP00000354683:R355I	R	-	2	0	ZNF630	47803339	0.000000	0.05858	0.040000	0.18447	0.744000	0.42396	-0.208000	0.09371	0.258000	0.21686	0.544000	0.68410	AGA	ZNF630	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47918395	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.899	A	A	47918395	C	A	47918395	3	1	131	1	0	0	0	0	1	0	0	0	18084	913	32	3	541	3	ZNF630	23	47918395	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	610434	47918395	107352165	1977	22117										
ZNF630	57232	genome.wustl.edu	37	chrX	47918815	47918815	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttctctccagtatggactCtctgatgaacagtgaaaggt	10	8	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47918815C>A	ENST00000409324.3	-	5	1242	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.R215I|ZNF630_ENST00000442455.3_Missense_Mutation_p.R325I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGGACTCTCTGATGAAC	0.428																																																	0													62	57	58					X																	47918815		2193	4288	6481	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1016G>T	X.37:g.47918815C>A	ENSP00000386393:p.Arg339Ile		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R339I	ENST00000409324.3	37	c.1016	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	15.03	2.711096	0.48517	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47488	0.1448	M	0.78344	2.41	0.38809	D	0.955373	D	0.89917	1.0	D	0.78314	0.991	T	0.52170	-0.8611	9	0.54805	T	0.06	.	9.8164	0.40856	0.0:1.0:0.0:0.0	.	339	Q2M218	ZN630_HUMAN	I	325;215;339	ENSP00000393163:R325I;ENSP00000354683:R215I;ENSP00000386393:R339I	ENSP00000354683:R215I	R	-	2	0	ZNF630	47803759	0.000000	0.05858	0.893000	0.35052	0.950000	0.60333	-0.205000	0.09411	1.179000	0.42884	0.544000	0.68410	AGA	ZNF630	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47918815	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47918815	C	A	47918815	3	1	131	1	0	0	0	0	1	0	0	0	18084	913	32	3	961	3	ZNF630	23	47918815	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	420	47918815	107351745	1978	22118										
SLC38A5	92745	genome.wustl.edu	37	chrX	48318139	48318139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gataactccaaagatatcccGgatggttggcacacagatga	10	9	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48318139G>A	ENST00000376876.3	-	14	2035	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	SLC38A5_ENST00000376875.1_Missense_Mutation_p.R347W|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.R398W			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	398					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AAGATATCCCGGATGGTTGGC	0.522																																																	0													120	97	105					X																	48318139		2203	4300	6503	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1192C>T	X.37:g.48318139G>A	ENSP00000366073:p.Arg398Trp		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R398W	ENST00000376876.3	37	c.1192	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	15.53	2.860944	0.51482	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02280	4.36;4.36;4.36	5.31	4.45	0.53987	.	0.207694	0.41294	D	0.000903	T	0.08714	0.0216	M	0.68728	2.09	0.44816	D	0.997826	D	0.71674	0.998	P	0.61722	0.893	T	0.01228	-1.1412	10	0.87932	D	0	.	10.7863	0.46407	0.0949:0.0:0.9051:0.0	.	398	Q8WUX1	S38A5_HUMAN	W	398;347;398	ENSP00000366073:R398W;ENSP00000366071:R347W;ENSP00000313740:R398W	ENSP00000313740:R398W	R	-	1	2	SLC38A5	48203083	0.990000	0.36364	0.364000	0.25888	0.290000	0.27261	1.955000	0.40372	1.027000	0.39758	0.529000	0.55759	CGG	SLC38A5	-	pfam_AA_transpt_TM		0.522	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48318139	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48318139	G	A	48318139	3	1	131	1	0	0	0	0	1	0	0	0	14637	1115	39	2	238	2	SLC38A5	23	48318139	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	399324	48318139	106952421	1979	22119										
PORCN	64840	genome.wustl.edu	37	chrX	48369723	48369723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catgcaagcaccgtggcaggCgggttcttcagcctctacca	11	14	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48369723C>T	ENST00000326194.6	+	2	220	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000537758.1_Silent_p.G59G|PORCN_ENST00000359882.4_Silent_p.G59G|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000355092.3_Silent_p.G59G|PORCN_ENST00000355961.4_Silent_p.G59G|PORCN_ENST00000367574.4_Intron|PORCN_ENST00000361988.3_Silent_p.G59G	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	59	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGTGGCAGGCGGGTTCTTCA	0.547											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													151	123	133					X																	48369723		2203	4300	6503	SO:0001819	synonymous_variant	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.177C>T	X.37:g.48369723C>T		954	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	pfam_MBOAT_fam	p.G59	ENST00000326194.6	37	c.177	CCDS14299.1	X																																																																																			PORCN	-	NULL		0.547	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	C	NM_022825		48369723	1	no_errors	ENST00000326194	ensembl	human	known	70_37	silent	SNP	0.787	T	T	48369723	C	T	48369723	2	4	131	1	0	0	0	0	0	0	0	1	12282	755	27	2		2	PORCN	23	48369723	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	51584	48369723	106900837	1980	22120										
PORCN	64840	genome.wustl.edu	37	chrX	48371045	48371045	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgtgccttgtgctgtccacTtgcgtgggcccctacctctt	10	15	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48371045T>G	ENST00000326194.6	+	5	667	c.624T>G	c.(622-624)acT>acG	p.T208T	PORCN_ENST00000537758.1_Silent_p.T208T|PORCN_ENST00000359882.4_Silent_p.T208T|PORCN_ENST00000355092.3_Silent_p.T208T|PORCN_ENST00000355961.4_Silent_p.T208T|PORCN_ENST00000367574.4_Silent_p.T137T|PORCN_ENST00000361988.3_Silent_p.T208T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	208					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGTCCACTTGCGTGGGCC	0.642																																																	0													66	56	60					X																	48371045		2203	4300	6503	SO:0001819	synonymous_variant	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.624T>G	X.37:g.48371045T>G			B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	pfam_MBOAT_fam	p.T208	ENST00000326194.6	37	c.624	CCDS14299.1	X																																																																																			PORCN	-	pfam_MBOAT_fam		0.642	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	T	NM_022825		48371045	1	no_errors	ENST00000326194	ensembl	human	known	70_37	silent	SNP	1.000	G	G	48371045	T	G	48371045	2	3	131	1	0	0	0	0	0	0	0	1	12282	1596	56	5		5	PORCN	23	48371045	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1322	48371045	106899515	1981	22121										
TBC1D25	4943	genome.wustl.edu	37	chrX	48417641	48417641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccctgagcgatgctgagttTcacacgtacctgaaccacga	9	14	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48417641T>C	ENST00000376771.4	+	5	953	c.612T>C	c.(610-612)ttT>ttC	p.F204F	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	204					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATGCTGAGTTTCACACGTACC	0.592																																																	0													102	75	84					X																	48417641		2203	4300	6503	SO:0001819	synonymous_variant	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.612T>C	X.37:g.48417641T>C			Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F204	ENST00000376771.4	37	c.612	CCDS35242.1	X																																																																																			TBC1D25	-	superfamily_Rab-GTPase-TBC_dom		0.592	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	T	NM_002536		48417641	1	no_errors	ENST00000376771	ensembl	human	known	70_37	silent	SNP	1.000	C	C	48417641	T	C	48417641	2	2	131	1	0	0	0	0	0	0	0	1	15645	1780	62	5		5	TBC1D25	23	48417641	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	46596	48417641	106852919	1982	22122										
GATA1	2623	genome.wustl.edu	37	chrX	48649666	48649666	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagcttcctccactgccccGagcacagccaccgctgcagc	9	20	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48649666G>A	ENST00000376670.3	+	2	261	c.150G>A	c.(148-150)ccG>ccA	p.P50P	GATA1_ENST00000376665.3_Silent_p.P50P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	50					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M1fs(7)|p.P50fs*87(4)|p.D42_D74>(3)|p.P38fs*14(2)|p.T48fs*11(2)|p.E39fs*83(2)|p.A45fs*21(1)|p.S51fs*17(1)|p.S47fs*9(1)|p.S51fs*19(1)|p.P50fs*94(1)|p.A45fs*15(1)|p.S51fs*2(1)|p.A45fs*85(1)|p.P50fs*6(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCACTGCCCCGAGCACAGCCA	0.597			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	29	Deletion - Frameshift(20)|Insertion - Frameshift(4)|Complex - deletion inframe(3)|Complex - frameshift(2)	haematopoietic_and_lymphoid_tissue(29)											25	17	20					X																	48649666		2199	4292	6491	SO:0001819	synonymous_variant	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.150G>A	X.37:g.48649666G>A			Q96GB8	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P50	ENST00000376670.3	37	c.150	CCDS14305.1	X																																																																																			GATA1	-	pirsf_TF_GATA-1/2/3		0.597	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	G	NM_002049		48649666	1	no_errors	ENST00000376670	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48649666	G	A	48649666	2	1	131	1	0	0	0	0	0	0	0	1	6272	1045	37	1		1	GATA1	23	48649666	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	232025	48649666	106620894	1983	22123										
GRIPAP1	56850	genome.wustl.edu	37	chrX	48841726	48841726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttctgtcccataaggtcctcGtactcagcctgctgctgctg	9	14	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48841726G>A	ENST00000376441.1	-	14	1165	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	GRIPAP1_ENST00000376425.3_Silent_p.Y346Y|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.Y324Y|GRIPAP1_ENST00000376444.3_Silent_p.Y332Y	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	377						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TAAGGTCCTCGTACTCAGCCT	0.532																																																	0													153	100	118					X																	48841726		2203	4300	6503	SO:0001819	synonymous_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1131C>T	X.37:g.48841726G>A			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.Y377	ENST00000376441.1	37	c.1131	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL		0.532	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	G	NM_207672		48841726	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	silent	SNP	0.200	A	A	48841726	G	A	48841726	2	1	131	1	0	0	0	0	0	0	0	1	6809	1140	40	2		2	GRIPAP1	23	48841726	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	192060	48841726	106428834	1984	22124										
GRIPAP1	56850	genome.wustl.edu	37	chrX	48841800	48841800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagcatattcagttcttgggTctttgctgtttggatctgga	12	6	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48841800T>G	ENST00000376441.1	-	14	1091	c.1057A>C	c.(1057-1059)Acc>Ccc	p.T353P	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.T322P|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.T300P|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.T308P	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	353						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AGTTCTTGGGTCTTTGCTGTT	0.542																																																	0													104	84	91					X																	48841800		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1057A>C	X.37:g.48841800T>G	ENSP00000365624:p.Thr353Pro		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.T353P	ENST00000376441.1	37	c.1057	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	t	18.52	3.641829	0.67244	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.15	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.42653	0.1212	L	0.55481	1.735	0.39553	D	0.969004	P;D;D	0.67145	0.888;0.989;0.996	P;P;D	0.64410	0.636;0.893;0.925	T	0.31251	-0.9950	10	0.40728	T	0.16	-8.5923	8.2817	0.31904	0.0:0.1041:0.0:0.8959	.	300;243;353	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	P	322;308;353;322;300	ENSP00000365608:T322P;ENSP00000365627:T308P;ENSP00000365624:T353P;ENSP00000365606:T300P	ENSP00000365606:T300P	T	-	1	0	GRIPAP1	48726744	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.307000	0.59123	1.335000	0.45486	0.231000	0.17811	ACC	GRIPAP1	-	NULL		0.542	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	T	NM_207672		48841800	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48841800	T	G	48841800	3	3	131	1	0	0	0	0	1	0	0	0	6809	1667	58	5	1574	5	GRIPAP1	23	48841800	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	74	48841800	106428760	1985	22125										
WDR45	11152	genome.wustl.edu	37	chrX	48934313	48934313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctcaggctcacttgtcatggCgcatgcgcacagaaagcact	10	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48934313C>T	ENST00000376372.3	-	5	513	c.332G>A	c.(331-333)cGc>cAc	p.R111H	WDR45_ENST00000376368.2_Missense_Mutation_p.R112H|WDR45_ENST00000485908.1_Missense_Mutation_p.R76H|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000356463.3_Missense_Mutation_p.R112H|PRAF2_ENST00000491199.1_5'Flank|PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.R111H|WDR45_ENST00000473974.1_Missense_Mutation_p.R111H|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.R111H|WDR45_ENST00000465431.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	111					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTGTCATGGCGCATGCGCAC	0.622																																																	0													71	55	60					X																	48934313		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.332G>A	X.37:g.48934313C>T	ENSP00000365551:p.Arg111His		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R111H	ENST00000376372.3	37	c.332	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051479	0.55218	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382	T;T;T;T;T;T;T;T;T;T;T;T	0.81163	-0.03;-0.03;-1.46;-1.46;-0.03;-1.46;-0.03;-1.46;-1.46;-1.46;-1.46;-0.03	3.87	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	M	0.86573	2.825	0.80722	D	1	B;B;B;B;B	0.23650	0.035;0.033;0.03;0.003;0.089	B;B;B;B;B	0.22601	0.012;0.016;0.04;0.006;0.014	D	0.84239	0.0471	10	0.66056	D	0.02	-11.408	14.6194	0.68574	0.0:1.0:0.0:0.0	.	111;111;76;112;111	C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;WIPI4_HUMAN	H	111;111;112;76;111;112;111;77;136;129;76;111	ENSP00000365551:R111H;ENSP00000365543:R111H;ENSP00000348848:R112H;ENSP00000419897:R76H;ENSP00000417211:R111H;ENSP00000365546:R112H;ENSP00000379913:R111H;ENSP00000418919:R77H;ENSP00000420728:R136H;ENSP00000393640:R129H;ENSP00000419324:R76H;ENSP00000420534:R111H	ENSP00000365543:R111H	R	-	2	0	WDR45	48821257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.188000	0.77739	2.182000	0.69389	0.529000	0.55759	CGC	WDR45	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.622	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48934313	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48934313	C	T	48934313	3	4	131	1	0	0	0	0	1	0	0	0	17328	768	27	2	778	2	WDR45	23	48934313	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	92513	48934313	106336247	1986	22126										
WDR45	11152	genome.wustl.edu	37	chrX	48935736	48935736	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acgcaggctggtcactcctcGaagtggctgttgagtcatgg	14	10	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48935736G>A	ENST00000376372.3	-	2	200	c.19C>T	c.(19-21)Cga>Tga	p.R7*	WDR45_ENST00000376368.2_Nonsense_Mutation_p.R7*|WDR45_ENST00000485908.1_Nonsense_Mutation_p.R7*|AF196779.12_ENST00000376358.3_Nonsense_Mutation_p.R7*|WDR45_ENST00000356463.3_Nonsense_Mutation_p.R7*|WDR45_ENST00000396681.4_Nonsense_Mutation_p.R7*|WDR45_ENST00000473974.1_Nonsense_Mutation_p.R7*|WDR45_ENST00000553851.1_Nonsense_Mutation_p.R7*|WDR45_ENST00000322995.8_Nonsense_Mutation_p.R7*|WDR45_ENST00000465431.1_5'UTR	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	7					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTCACTCCTCGAAGTGGCTGT	0.522																																																	0													129	91	104					X																	48935736		2203	4300	6503	SO:0001587	stop_gained	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.19C>T	X.37:g.48935736G>A	ENSP00000365551:p.Arg7*		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R7*	ENST00000376372.3	37	c.19	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.613092	0.96637	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382;ENST00000423215;ENST00000376358	.	.	.	3.87	3.87	0.44632	.	0.068568	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9014	12.7001	0.57026	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000365536:R7X	R	-	1	2	AF196779.12;WDR45	48822680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.982000	0.56909	1.872000	0.54250	0.468000	0.43344	CGA	WDR45	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.522	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	G	NM_007075		48935736	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	48935736	G	A	48935736	4	1	131	1	0	0	0	0	0	1	0	0	17328	1066	37	1	1106	1	WDR45	23	48935736	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1423	48935736	106334824	1987	22127										
DGKK	139189	genome.wustl.edu	37	chrX	50213188	50213188	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agccgcctcagggcagaactCtggggccagctctgtcacag	13	14	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50213188C>A	ENST00000376025.2	-	0	549							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGGCAGAACTCTGGGGCCAGC	0.622																																																	0													29	31	30					X																	50213188		1917	4107	6024			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213188C>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.622	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50213188	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.020	A	A	50213188	C	A	50213188	1	1	131	0	1	0	0	0	0	0	0	0	4482	922	32	3		3	DGKK	23	50213188	RNA	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1277452	50213188	105057372	1988	22128										
SHROOM4	57477	genome.wustl.edu	37	chrX	50345650	50345650	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tacctttttttgagccagttCatggtcaacttcctcctctc	5	13	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50345650C>A	ENST00000289292.7	-	7	4208	c.3925G>T	c.(3925-3927)Gaa>Taa	p.E1309*	SHROOM4_ENST00000376020.2_Nonsense_Mutation_p.E1309*|SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.E1193*			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1309	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGAGCCAGTTCATGGTCAACT	0.418																																																	0													178	154	162					X																	50345650		2203	4300	6503	SO:0001587	stop_gained	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3925G>T	X.37:g.50345650C>A	ENSP00000289292:p.Glu1309*		A7E2X9|D6RFW0|Q96LA0	Nonsense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1309*	ENST00000289292.7	37	c.3925	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	c	43	10.095982	0.99336	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4557	0.87606	0.0:1.0:0.0:0.0	.	.	.	.	X	1309;1309;1193	.	ENSP00000289292:E1309X	E	-	1	0	SHROOM4	50362390	0.822000	0.29219	0.990000	0.47175	0.915000	0.54546	1.489000	0.35562	2.391000	0.81399	0.509000	0.49947	GAA	SHROOM4	-	pfam_ASD2		0.418	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50345650	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	50345650	C	A	50345650	4	1	131	1	0	0	0	0	0	1	0	0	14326	835	29	3	568	3	SHROOM4	23	50345650	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	132462	50345650	104924910	1989	22129										
SHROOM4	57477	genome.wustl.edu	37	chrX	50350419	50350419	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcctgtcccgatgtcctccaAagcccaccaatgccatagta	6	16	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50350419A>C	ENST00000289292.7	-	6	4006	c.3723T>G	c.(3721-3723)ctT>ctG	p.L1241L	SHROOM4_ENST00000376020.2_Silent_p.L1241L|SHROOM4_ENST00000460112.3_Silent_p.L1125L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1241	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGTCCTCCAAAGCCCACCAA	0.493																																																	0													63	54	57					X																	50350419		2203	4300	6503	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3723T>G	X.37:g.50350419A>C			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1241	ENST00000289292.7	37	c.3723	CCDS35277.1	X																																																																																			SHROOM4	-	pfam_ASD2		0.493	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	A	NM_020717		50350419	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	silent	SNP	0.985	C	C	50350419	A	C	50350419	2	2	131	1	0	0	0	0	0	0	0	1	14326	1	1	5		5	SHROOM4	23	50350419	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	4769	50350419	104920141	1990	22130										
HUWE1	10075	genome.wustl.edu	37	chrX	53675225	53675225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	catcattacaaactttgagtTtgtctattaaggctctgcag	7	8	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:53675225T>G	ENST00000342160.3	-	4	531	c.74A>C	c.(73-75)aAa>aCa	p.K25T	HUWE1_ENST00000262854.6_Missense_Mutation_p.K25T|HUWE1_ENST00000218328.8_Missense_Mutation_p.K25T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	25					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AACTTTGAGTTTGTCTATTAA	0.398																																																	0													117	92	101					X																	53675225		2202	4300	6502	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.74A>C	X.37:g.53675225T>G	ENSP00000340648:p.Lys25Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.K25T	ENST00000342160.3	37	c.74	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113370	0.56398	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.49139	1.09;1.09;0.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.36672	1.1	0.58432	D	0.999995	B	0.30193	0.272	B	0.30855	0.121	T	0.21827	-1.0234	10	0.33141	T	0.24	.	13.6877	0.62526	0.0:0.0:0.0:1.0	.	25	Q7Z6Z7	HUWE1_HUMAN	T	25	ENSP00000340648:K25T;ENSP00000262854:K25T;ENSP00000218328:K25T	ENSP00000218328:K25T	K	-	2	0	HUWE1	53691950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.787000	0.69013	1.876000	0.54355	0.486000	0.48141	AAA	HUWE1	-	NULL		0.398	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	T	XM_497119		53675225	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53675225	T	G	53675225	3	3	131	1	0	0	0	0	1	0	0	0	7481	1841	64	5	13370	5	HUWE1	23	53675225	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3324806	53675225	101595335	1991	22131										
PHF8	23133	genome.wustl.edu	37	chrX	53966697	53966697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggccataggtgtggtgctgcGgtttgcctgggccatgccaa	16	10	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:53966697G>A	ENST00000357988.5	-	21	3368	c.3010C>T	c.(3010-3012)Cgc>Tgc	p.R1004C	PHF8_ENST00000338946.6_Missense_Mutation_p.R867C|PHF8_ENST00000338154.6_Missense_Mutation_p.R968C	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1004					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTGGTGCTGCGGTTTGCCTGG	0.602																																																	0													60	48	52					X																	53966697		2203	4299	6502	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.3010C>T	X.37:g.53966697G>A	ENSP00000350676:p.Arg1004Cys		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.R1004C	ENST00000357988.5	37	c.3010	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944201	0.73672	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277	T;T;T	0.25250	2.12;1.86;1.81	5.08	5.08	0.68730	.	0.061144	0.64402	D	0.000005	T	0.43590	0.1254	L	0.39898	1.24	0.46927	D	0.999257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.991	T	0.38972	-0.9636	10	0.72032	D	0.01	-6.9595	16.3345	0.83052	0.0:0.0:1.0:0.0	.	867;903;1004	B7Z911;Q9UPP1-3;Q9UPP1	.;.;PHF8_HUMAN	C	1004;968;867;897	ENSP00000350676:R1004C;ENSP00000338868:R968C;ENSP00000340051:R867C	ENSP00000338868:R968C	R	-	1	0	PHF8	53983422	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	4.619000	0.61218	2.109000	0.64355	0.431000	0.28591	CGC	PHF8	-	NULL		0.602	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	G	NM_015107		53966697	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53966697	G	A	53966697	3	1	131	1	0	0	0	0	1	0	0	0	11864	1116	39	2	263	2	PHF8	23	53966697	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	291472	53966697	101303863	1992	22132										
WNK3	65267	genome.wustl.edu	37	chrX	54324668	54324668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgaaactaaattcaatagcTtcattgtctttgtgtttgcc	6	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:54324668T>G	ENST00000375159.2	-	6	1337	c.1338A>C	c.(1336-1338)gaA>gaC	p.E446D	WNK3_ENST00000375169.3_Missense_Mutation_p.E446D|WNK3_ENST00000354646.2_Missense_Mutation_p.E446D			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	446					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTCAATAGCTTCATTGTCTT	0.363																																																	0													215	189	198					X																	54324668		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1338A>C	X.37:g.54324668T>G	ENSP00000364301:p.Glu446Asp		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E446D	ENST00000375159.2	37	c.1338	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712837	0.68730	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.39229	1.09;1.09;1.09	5.04	5.04	0.67666	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.000000	0.51477	D	0.000096	T	0.61476	0.2350	M	0.68593	2.085	0.35995	D	0.836981	D;D	0.76494	0.999;0.999	D;D	0.76071	0.978;0.987	T	0.72316	-0.4330	10	0.72032	D	0.01	-13.9631	12.8772	0.57998	0.0:0.0:0.0:1.0	.	446;446	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	D	446	ENSP00000364312:E446D;ENSP00000346667:E446D;ENSP00000364301:E446D	ENSP00000346667:E446D	E	-	3	2	WNK3	54341393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.172000	0.31908	1.679000	0.50963	0.417000	0.27973	GAA	WNK3	-	pfam_Kinase_OSR1/WNK_CCT		0.363	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	T	NM_020922		54324668	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54324668	T	G	54324668	3	3	131	1	0	0	0	0	1	0	0	0	17410	1606	56	5	4136	5	WNK3	23	54324668	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	357971	54324668	100945892	1993	22133										
TRO	7216	genome.wustl.edu	37	chrX	54950191	54950191	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaccaggacccggggcaaaaGaaaccgaaaggtgagatctc	12	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:54950191G>T	ENST00000173898.7	+	3	1338	c.1226G>T	c.(1225-1227)aGa>aTa	p.R409I	TRO_ENST00000375022.4_Missense_Mutation_p.R409I|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.R409I|TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	409					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CGGGGCAAAAGAAACCGAAAG	0.478																																																	0													33	43	40					X																	54950191		1896	4119	6015	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1226G>T	X.37:g.54950191G>T	ENSP00000173898:p.Arg409Ile		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R409I	ENST00000173898.7	37	c.1226	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677086	0.47886	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.58940	0.3;0.3;0.3	2.7	1.83	0.25207	.	.	.	.	.	T	0.51736	0.1692	N	0.24115	0.695	0.80722	D	1	P;D	0.69078	0.948;0.997	P;P	0.60789	0.494;0.879	T	0.45293	-0.9271	8	.	.	.	.	4.9715	0.14117	0.1786:0.0:0.8214:0.0	.	409;409	Q96SX2;Q12816	.;TROP_HUMAN	I	409	ENSP00000173898:R409I;ENSP00000318278:R409I;ENSP00000364162:R409I	.	R	+	2	0	TRO	54966916	0.991000	0.36638	0.997000	0.53966	0.880000	0.50808	0.499000	0.22546	0.539000	0.28788	0.509000	0.49947	AGA	TRO	-	NULL		0.478	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	G	NM_016157		54950191	1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.996	T	T	54950191	G	T	54950191	3	4	131	1	0	0	0	0	1	0	0	0	16605	942	33	3	1232	3	TRO	23	54950191	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	625523	54950191	100320369	1994	22134										
FAM123B	139285	genome.wustl.edu	37	chrX	63412951	63412951	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgctccgtccccctccaaaGaaactaggcagagtacagat	8	13	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:63412951G>T	ENST00000330258.3	-	2	488	c.216C>A	c.(214-216)ttC>ttA	p.F72L	AMER1_ENST00000374869.3_Missense_Mutation_p.F72L|AMER1_ENST00000403336.1_Missense_Mutation_p.F72L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	72					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCCCTCCAAAGAAACTAGGCA	0.547																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											132	108	116					X																	63412951		2203	4300	6503	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.216C>A	X.37:g.63412951G>T	ENSP00000329117:p.Phe72Leu		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.F72L	ENST00000330258.3	37	c.216	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287978	0.59976	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.56611	0.45;0.51;0.45	4.52	1.64	0.23874	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.66939	2.045	0.33445	D	0.582969	B	0.25390	0.125	B	0.20184	0.028	T	0.48127	-0.9062	10	0.62326	D	0.03	-11.841	3.6861	0.08328	0.3172:0.0:0.508:0.1748	.	72	Q5JTC6	F123B_HUMAN	L	72	ENSP00000364003:F72L;ENSP00000329117:F72L;ENSP00000384722:F72L	ENSP00000329117:F72L	F	-	3	2	FAM123B	63329676	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.409000	0.21082	0.204000	0.20548	0.600000	0.82982	TTC	FAM123B	-	NULL		0.547	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	G	NM_152424		63412951	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.997	T	T	63412951	G	T	63412951	3	4	131	1	0	0	0	0	1	0	0	0	5438	933	33	3	3195	3	FAM123B	23	63412951	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	8462760	63412951	91857609	1995	22135										
OPHN1	4983	genome.wustl.edu	37	chrX	67283722	67283722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtggtgggccaggggccggGgagctggtctctttatgtgg	20	7	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:67283722G>A	ENST00000355520.5	-	21	2773	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	711	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAGGGGCCGGGGAGCTGGTCT	0.577																																																	0													26	22	23					X																	67283722		2195	4283	6478	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2132C>T	X.37:g.67283722G>A	ENSP00000347710:p.Pro711Leu		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.P711L	ENST00000355520.5	37	c.2132	CCDS14388.1	X	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150010	0.37923	.	.	ENSG00000079482	ENST00000355520	T	0.54279	0.58	5.04	5.04	0.67666	.	0.442010	0.24452	N	0.038411	T	0.30572	0.0769	N	0.14661	0.345	0.80722	D	1	B	0.25667	0.131	B	0.18871	0.023	T	0.13683	-1.0500	10	0.06891	T	0.86	.	12.4245	0.55538	0.0:0.0:1.0:0.0	.	711	O60890	OPHN1_HUMAN	L	711	ENSP00000347710:P711L	ENSP00000347710:P711L	P	-	2	0	OPHN1	67200447	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	3.558000	0.53749	2.325000	0.78763	0.506000	0.49869	CCC	OPHN1	-	NULL		0.577	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	G	NM_002547		67283722	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	missense	SNP	0.969	A	A	67283722	G	A	67283722	3	1	131	1	0	0	0	0	1	0	0	0	10899	1232	43	4	292	4	OPHN1	23	67283722	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	3870771	67283722	87986838	1996	22136										
KIF4A	24137	genome.wustl.edu	37	chrX	69595079	69595079	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtgagcgccgccgcaaacgtCtccaggagctggagggtcaa	15	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:69595079C>A	ENST00000374403.3	+	17	1886	c.1804C>A	c.(1804-1806)Ctc>Atc	p.L602I	KIF4A_ENST00000374388.3_Missense_Mutation_p.L602I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	602					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCGCAAACGTCTCCAGGAGCT	0.473																																																	0													73	63	67					X																	69595079		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1804C>A	X.37:g.69595079C>A	ENSP00000363524:p.Leu602Ile		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L602I	ENST00000374403.3	37	c.1804	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916920	0.92249	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74842	2.19;-0.88	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000056	D	0.85758	0.5771	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.972	D;D	0.85130	0.997;0.943	D	0.86859	0.2028	10	0.72032	D	0.01	.	17.3242	0.87243	0.0:1.0:0.0:0.0	.	602;602	O95239;O95239-2	KIF4A_HUMAN;.	I	602	ENSP00000363509:L602I;ENSP00000363524:L602I	ENSP00000363509:L602I	L	+	1	0	KIF4A	69511804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.314000	0.65804	2.562000	0.86427	0.600000	0.82982	CTC	KIF4A	-	NULL		0.473	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	C	NM_012310		69595079	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69595079	C	A	69595079	3	1	131	1	0	0	0	0	1	0	0	0	8323	913	32	3	1866	3	KIF4A	23	69595079	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2311357	69595079	85675481	1997	22137										
TEX11	56159	genome.wustl.edu	37	chrX	69945180	69945180	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttttaagaaaagcccaggaGaacttaaatgttcctatttt	6	6	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:69945180G>T	ENST00000395889.2	-	13	1057	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	TEX11_ENST00000374333.2_Missense_Mutation_p.S286Y|TEX11_ENST00000374320.2_5'Flank|TEX11_ENST00000344304.3_Missense_Mutation_p.S301Y	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	301					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.S286F(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAGCCCAGGAGAACTTAAATG	0.323																																																	1	Substitution - Missense(1)	skin(1)											71	68	69					X																	69945180		2202	4297	6499	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.902C>A	X.37:g.69945180G>T	ENSP00000379226:p.Ser301Tyr		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.S301Y	ENST00000395889.2	37	c.902	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051860	0.19827	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.32988	1.43;1.43;1.43	4.62	4.62	0.57501	Tetratricopeptide-like helical (1);	0.259153	0.34314	N	0.004071	T	0.21347	0.0514	N	0.14661	0.345	0.09310	N	1	P;P	0.47604	0.876;0.898	B;P	0.45343	0.346;0.477	T	0.08700	-1.0709	9	.	.	.	-2.2121	11.8529	0.52422	0.0:0.0:1.0:0.0	.	286;301	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	Y	286;301;301	ENSP00000363453:S286Y;ENSP00000379226:S301Y;ENSP00000340995:S301Y	.	S	-	2	0	TEX11	69861905	0.986000	0.35501	0.009000	0.14445	0.119000	0.20118	3.977000	0.56874	2.282000	0.76494	0.513000	0.50165	TCT	TEX11	-	pfam_Meiosis_specific_SPO22		0.323	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	G			69945180	-1	no_errors	ENST00000344304	ensembl	human	known	70_37	missense	SNP	0.018	T	T	69945180	G	T	69945180	3	4	131	1	0	0	0	0	1	0	0	0	15804	942	33	3	1996	3	TEX11	23	69945180	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	350101	69945180	85325380	1998	22138										
MED12	9968	genome.wustl.edu	37	chrX	70357069	70357069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggacccataccgtcctgtgCgcttaccaatgcagaagctg	10	13	0	1	rs200279192		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70357069C>T	ENST00000374080.3	+	39	5616	c.5584C>T	c.(5584-5586)Cgc>Tgc	p.R1862C	MED12_ENST00000333646.6_Missense_Mutation_p.R1862C|MED12_ENST00000374102.1_Missense_Mutation_p.R1862C			Q93074	MED12_HUMAN	mediator complex subunit 12	1862	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCGTCCTGTGCGCTTACCAAT	0.557			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													65	63	64					X																	70357069		2082	4191	6273	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5584C>T	X.37:g.70357069C>T	ENSP00000363193:p.Arg1862Cys		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.R1862C	ENST00000374080.3	37	c.5584	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	-	14.86	2.662360	0.47572	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.59906	0.28;0.27;0.27;0.23;1.33	4.63	2.69	0.31865	Mediator complex, subunit Med12, catenin-binding (1);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.993;0.988;0.993	T	0.70081	-0.4970	10	0.59425	D	0.04	-18.2048	13.0808	0.59114	0.2877:0.7123:0.0:0.0	.	1862;1709;1862;1862	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	C	1862;1862;1862;1862;1830;607	ENSP00000333125:R1862C;ENSP00000363215:R1862C;ENSP00000363193:R1862C;ENSP00000414203:R1830C;ENSP00000408388:R607C	ENSP00000333125:R1862C	R	+	1	0	MED12	70273794	1.000000	0.71417	0.960000	0.40013	0.933000	0.57130	0.934000	0.28910	0.862000	0.35528	0.525000	0.51046	CGC	MED12	-	pfam_Mediator_Med12_catenin-bd		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70357069	1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	0.993	T	T	70357069	C	T	70357069	3	4	131	1	0	0	0	0	1	0	0	0	9451	768	27	2	5738	2	MED12	23	70357069	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	411889	70357069	84913491	1999	22139										
ZMYM3	9203	genome.wustl.edu	37	chrX	70473060	70473060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccagccaggggcttctctgGcagggtcaatgggtcaaatg	14	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70473060G>T	ENST00000353904.2	-	2	233	c.46C>A	c.(46-48)Cca>Aca	p.P16T	ZMYM3_ENST00000373982.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P16T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P16T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	16					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGCTTCTCTGGCAGGGTCAAT	0.552											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	29	29					X																	70473060		1990	4157	6147	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.46C>A	X.37:g.70473060G>T	ENSP00000343909:p.Pro16Thr	1122	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.P16T	ENST00000353904.2	37	c.46	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	16.79	3.219566	0.58560	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.64	4.64	0.57946	.	0.000000	0.49916	D	0.000140	T	0.40719	0.1128	N	0.19112	0.55	0.36211	D	0.851342	D;D;D	0.71674	0.998;0.997;0.994	D;D;D	0.78314	0.987;0.991;0.981	T	0.55509	-0.8130	10	0.87932	D	0	-3.7351	15.0413	0.71793	0.0:0.0:1.0:0.0	.	16;16;16	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	16	ENSP00000322845:P16T;ENSP00000363110:P16T;ENSP00000343909:P16T;ENSP00000363096:P16T;ENSP00000363100:P16T;ENSP00000363094:P16T;ENSP00000363093:P16T;ENSP00000363090:P16T	ENSP00000322845:P16T	P	-	1	0	ZMYM3	70389785	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.802000	0.69122	1.898000	0.54952	0.287000	0.19450	CCA	ZMYM3	-	NULL		0.552	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70473060	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70473060	G	T	70473060	3	4	131	1	0	0	0	0	1	0	0	0	17731	1203	42	4	4180	4	ZMYM3	23	70473060	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	115991	70473060	84797500	2000	22140										
TAF1	6872	genome.wustl.edu	37	chrX	70597014	70597014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctgttgccaagtgtcacagaActttttccagaatttcgacc	7	11	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70597014A>C	ENST00000373790.4	+	5	735	c.684A>C	c.(682-684)gaA>gaC	p.E228D	TAF1_ENST00000449580.1_Missense_Mutation_p.E228D|TAF1_ENST00000423759.1_Missense_Mutation_p.E249D|TAF1_ENST00000276072.3_Missense_Mutation_p.E249D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	228	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTGTCACAGAACTTTTTCCAG	0.443																																																	0													97	78	84					X																	70597014		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.684A>C	X.37:g.70597014A>C	ENSP00000362895:p.Glu228Asp		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E228D	ENST00000373790.4	37	c.684	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	16.02	3.003904	0.54254	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10763	2.84;2.91;2.91;2.86	5.53	3.13	0.36017	.	0.049498	0.85682	D	0.000000	T	0.09379	0.0231	L	0.49350	1.555	0.52501	D	0.999959	B;B	0.16802	0.011;0.019	B;B	0.17979	0.009;0.02	T	0.15492	-1.0435	10	0.29301	T	0.29	.	5.4159	0.16374	0.5651:0.0:0.4349:0.0	.	228;249	P21675;P21675-2	TAF1_HUMAN;.	D	228;228;249;249	ENSP00000362895:E228D;ENSP00000389000:E228D;ENSP00000406549:E249D;ENSP00000276072:E249D	ENSP00000276072:E249D	E	+	3	2	TAF1	70513739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.321000	0.43805	0.833000	0.34828	0.430000	0.28490	GAA	TAF1	-	pirsf_TAF1_animal		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	A	NM_004606		70597014	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70597014	A	C	70597014	3	2	131	1	0	0	0	0	1	0	0	0	15543	40	2	5	765	5	TAF1	23	70597014	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	123954	70597014	84673546	2001	22141										
OGT	8473	genome.wustl.edu	37	chrX	70784469	70784469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agatcaacaataaggctgcaActggagaggaggttccccgt	12	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70784469A>C	ENST00000373719.3	+	19	2672	c.2455A>C	c.(2455-2457)Act>Cct	p.T819P	OGT_ENST00000373701.3_Missense_Mutation_p.T809P	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	819					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.T819A(1)|p.T809A(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TAAGGCTGCAACTGGAGAGGA	0.368																																																	2	Substitution - Missense(2)	breast(2)											93	78	83					X																	70784469		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2455A>C	X.37:g.70784469A>C	ENSP00000362824:p.Thr819Pro		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T819P	ENST00000373719.3	37	c.2455	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700888	0.48307	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.74421	-0.84;-0.84	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	L	0.37850	1.14	0.80722	D	1	D;D;B	0.76494	0.958;0.999;0.023	P;D;B	0.81914	0.786;0.995;0.062	T	0.79729	-0.1681	10	0.41790	T	0.15	.	14.4616	0.67453	1.0:0.0:0.0:0.0	.	693;809;819	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	P	819;809	ENSP00000362824:T819P;ENSP00000362805:T809P	ENSP00000362805:T809P	T	+	1	0	OGT	70701194	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	9.254000	0.95512	1.863000	0.54032	0.486000	0.48141	ACT	OGT	-	NULL		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	A	NM_003605, NM_181672		70784469	1	no_errors	ENST00000373719	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70784469	A	C	70784469	3	2	131	1	0	0	0	0	1	0	0	0	10871	43	2	5	2529	5	OGT	23	70784469	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	187455	70784469	84486091	2002	22142										
ACRC	93953	genome.wustl.edu	37	chrX	70824092	70824092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgaagacaagagtgatgattCggatgttcccgatgacaata	11	7	0	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70824092C>T	ENST00000373695.1	+	7	1502	c.965C>T	c.(964-966)tCg>tTg	p.S322L	ACRC_ENST00000373696.3_Missense_Mutation_p.S322L			Q96QF7	ACRC_HUMAN	acidic repeat containing	322	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGTGATGATTCGGATGTTCCC	0.463																																																	0													202	167	179					X																	70824092		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.965C>T	X.37:g.70824092C>T	ENSP00000362799:p.Ser322Leu		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S322L	ENST00000373695.1	37	c.965	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	0.524	-0.860893	0.02610	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	0.597	-1.19	0.09585	.	.	.	.	.	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13072	-1.0523	9	0.21540	T	0.41	.	1.0859	0.01652	0.2001:0.4016:0.2003:0.198	.	322	Q96QF7	ACRC_HUMAN	L	322	ENSP00000362800:S322L;ENSP00000362799:S322L	ENSP00000362799:S322L	S	+	2	0	ACRC	70740817	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.562000	0.00430	-2.687000	0.00405	-2.231000	0.00291	TCG	ACRC	-	NULL		0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	C			70824092	1	no_errors	ENST00000373695	ensembl	human	known	70_37	missense	SNP	0.002	T	T	70824092	C	T	70824092	3	4	131	1	0	0	0	0	1	0	0	0	171	893	31	1	991	1	ACRC	23	70824092	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	39623	70824092	84446468	2003	22143										
ERCC6L	54821	genome.wustl.edu	37	chrX	71426082	71426082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggcccctcttgtaatgtctcTttttgtacagcttcattttt	6	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71426082T>G	ENST00000334463.3	-	2	2670	c.2535A>C	c.(2533-2535)aaA>aaC	p.K845N	ERCC6L_ENST00000373657.1_Missense_Mutation_p.K722N|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	845					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTAATGTCTCTTTTTGTACAG	0.388																																																	0													83	73	76					X																	71426082		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2535A>C	X.37:g.71426082T>G	ENSP00000334675:p.Lys845Asn		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K845N	ENST00000334463.3	37	c.2535	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471815	0.26423	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91351	-2.8;-2.83	4.91	-3.03	0.05429	.	.	.	.	.	T	0.81763	0.4891	L	0.57536	1.79	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.69375	-0.5162	9	0.22706	T	0.39	-11.7973	2.9626	0.05897	0.1431:0.4691:0.1429:0.2449	.	845	Q2NKX8	ERC6L_HUMAN	N	722;845	ENSP00000362761:K722N;ENSP00000334675:K845N	ENSP00000334675:K845N	K	-	3	2	ERCC6L	71342807	0.001000	0.12720	0.008000	0.14137	0.027000	0.11550	-0.958000	0.03857	-0.447000	0.07138	0.481000	0.45027	AAA	ERCC6L	-	NULL		0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	T	NM_017669		71426082	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	0.000	G	G	71426082	T	G	71426082	3	3	131	1	0	0	0	0	1	0	0	0	5230	1606	56	5	1221	5	ERCC6L	23	71426082	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	601990	71426082	83844478	2004	22144										
ERCC6L	54821	genome.wustl.edu	37	chrX	71427103	71427103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagtaactgtcccatcgattCgcaatgtcttaaagtgccta	8	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71427103C>T	ENST00000334463.3	-	2	1649	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R382Q|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R505Q(2)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CCCATCGATTCGCAATGTCTT	0.373																																																	2	Substitution - Missense(2)	large_intestine(2)											107	99	102					X																	71427103		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1514G>A	X.37:g.71427103C>T	ENSP00000334675:p.Arg505Gln		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R505Q	ENST00000334463.3	37	c.1514	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690921	0.48097	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.75704	-0.96;-0.96	5.72	4.86	0.63082	Helicase, C-terminal (3);	.	.	.	.	D	0.86772	0.6013	M	0.86573	2.825	0.43777	D	0.996303	D	0.89917	1.0	D	0.97110	1.0	D	0.88077	0.2804	9	0.87932	D	0	-9.5779	11.3697	0.49692	0.0:0.9106:0.0:0.0894	.	505	Q2NKX8	ERC6L_HUMAN	Q	382;505	ENSP00000362761:R382Q;ENSP00000334675:R505Q	ENSP00000334675:R505Q	R	-	2	0	ERCC6L	71343828	1.000000	0.71417	0.077000	0.20336	0.607000	0.37147	5.816000	0.69222	1.181000	0.42912	0.600000	0.82982	CGA	ERCC6L	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.373	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	C	NM_017669		71427103	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	0.989	T	T	71427103	C	T	71427103	3	4	131	1	0	0	0	0	1	0	0	0	5230	884	31	1	2242	1	ERCC6L	23	71427103	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1021	71427103	83843457	2005	22145										
HDAC8	55869	genome.wustl.edu	37	chrX	71788729	71788729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggaggccactttaggcttaActatcctaataataacagag	8	8	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71788729A>C	ENST00000373573.3	-	3	511	c.170T>G	c.(169-171)gTt>gGt	p.V57G	HDAC8_ENST00000373554.1_Missense_Mutation_p.V57G|HDAC8_ENST00000373560.2_Missense_Mutation_p.V57G|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000439122.2_Missense_Mutation_p.V57G|HDAC8_ENST00000373556.3_Missense_Mutation_p.V57G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373571.1_Missense_Mutation_p.V57G|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.V57G	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	57	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTTAGGCTTAACTATCCTAAT	0.473																																																	0													58	45	49					X																	71788729		2203	4300	6503	SO:0001583	missense	55869			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.170T>G	X.37:g.71788729A>C	ENSP00000362674:p.Val57Gly		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.V57G	ENST00000373573.3	37	c.170	CCDS14420.1	X	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798492	0.50208	.	.	ENSG00000147099	ENST00000373573;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373561;ENST00000421523;ENST00000373556;ENST00000373554	T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.42	4.42	0.53409	Histone deacetylase domain (2);	0.117845	0.56097	D	0.000031	T	0.81221	0.4777	M	0.77712	2.385	0.80722	D	1	D;D	0.65815	0.995;0.982	P;P	0.54924	0.764;0.676	D	0.83810	0.0241	10	0.87932	D	0	-9.6541	11.1203	0.48287	1.0:0.0:0.0:0.0	.	57;57	B4DV22;Q9BY41	.;HDAC8_HUMAN	G	57;57;57;57;57;57;18;57;57	ENSP00000362674:V57G;ENSP00000396424:V57G;ENSP00000362672:V57G;ENSP00000414486:V57G;ENSP00000362661:V57G;ENSP00000362662:V57G;ENSP00000398997:V18G;ENSP00000362657:V57G;ENSP00000362655:V57G	ENSP00000362655:V57G	V	-	2	0	HDAC8	71705454	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	8.803000	0.91915	1.700000	0.51204	0.417000	0.27973	GTT	HDAC8	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1		0.473	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC8	HGNC	protein_coding	OTTHUMT00000057193.2	A	NM_018486		71788729	-1	no_errors	ENST00000373573	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71788729	A	C	71788729	3	2	131	1	0	0	0	0	1	0	0	0	7033	43	2	5	1085	5	HDAC8	23	71788729	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	361626	71788729	83481831	2006	22146										
PHKA1	5255	genome.wustl.edu	37	chrX	71887265	71887265	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagccaggacatggataactGattgaggcccacctttcaca	9	12	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71887265G>T	ENST00000373542.4	-	7	836	c.677C>A	c.(676-678)tCa>tAa	p.S226*	PHKA1_ENST00000339490.3_Nonsense_Mutation_p.S226*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.S226*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.S226*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.S226*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	226					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATGGATAACTGATTGAGGCCC	0.408																																																	0													115	87	96					X																	71887265		2203	4300	6503	SO:0001587	stop_gained	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.677C>A	X.37:g.71887265G>T	ENSP00000362643:p.Ser226*		B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S226*	ENST00000373542.4	37	c.677	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.380822	0.98248	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	4.02	4.02	0.46733	.	0.124112	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2404	12.7001	0.57026	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000342469:S226X	S	-	2	0	PHKA1	71803990	1.000000	0.71417	0.987000	0.45799	0.307000	0.27823	9.083000	0.94067	1.840000	0.53500	0.594000	0.82650	TCA	PHKA1	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.408	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71887265	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	nonsense	SNP	0.995	T	T	71887265	G	T	71887265	4	4	131	1	0	0	0	0	0	1	0	0	11867	1294	45	3	3098	3	PHKA1	23	71887265	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	98536	71887265	83383295	2007	22147										
KIAA2022	340533	genome.wustl.edu	37	chrX	73962043	73962043	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttggtagaaaagtggaactCttagcagcctttgcctcatg	11	8	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:73962043C>A	ENST00000055682.6	-	3	2960	c.2349G>T	c.(2347-2349)aaG>aaT	p.K783N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	783					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGTGGAACTCTTAGCAGCCT	0.408																																																	0													94	88	90					X																	73962043		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2349G>T	X.37:g.73962043C>A	ENSP00000055682:p.Lys783Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.K783N	ENST00000055682.6	37	c.2349	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760736	0.49468	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.35048	1.33;1.33	5.73	4.69	0.59074	.	0.451006	0.21615	N	0.071733	T	0.40546	0.1121	L	0.34521	1.04	0.49687	D	0.999817	D	0.67145	0.996	P	0.62184	0.899	T	0.28586	-1.0039	10	0.56958	D	0.05	-13.6708	5.7765	0.18281	0.0:0.6885:0.0:0.3115	.	783	Q5QGS0	K2022_HUMAN	N	783	ENSP00000362567:K783N;ENSP00000055682:K783N	ENSP00000055682:K783N	K	-	3	2	KIAA2022	73878768	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.412000	0.44609	2.415000	0.81967	0.600000	0.82982	AAG	KIAA2022	-	NULL		0.408	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73962043	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73962043	C	A	73962043	3	1	131	1	0	0	0	0	1	0	0	0	8289	912	32	3	2209	3	KIAA2022	23	73962043	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2074778	73962043	81308517	2008	22148										
KIAA2022	340533	genome.wustl.edu	37	chrX	73965413	73965413	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttaaattcccttaccattttCtttgaccccattaatcagag	3	11	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:73965413C>A	ENST00000055682.6	-	2	684	c.73G>T	c.(73-75)Gaa>Taa	p.E25*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	25					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTACCATTTTCTTTGACCCCA	0.363																																																	0													95	80	85					X																	73965413		2202	4299	6501	SO:0001587	stop_gained	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.73G>T	X.37:g.73965413C>A	ENSP00000055682:p.Glu25*		A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	NULL	p.E25*	ENST00000055682.6	37	c.73	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.201663	0.99098	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.68	4.81	0.61882	.	0.336772	0.29119	N	0.013081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6618	14.2494	0.66009	0.0:0.9258:0.0:0.0741	.	.	.	.	X	25	.	ENSP00000055682:E25X	E	-	1	0	KIAA2022	73882138	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.448000	0.52943	1.133000	0.42147	0.594000	0.82650	GAA	KIAA2022	-	NULL		0.363	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73965413	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	73965413	C	A	73965413	4	1	131	1	0	0	0	0	0	1	0	0	8289	922	32	3	4489	3	KIAA2022	23	73965413	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3370	73965413	81305147	2009	22149										
MAGEE2	139599	genome.wustl.edu	37	chrX	75004134	75004134	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggctctagagccccacaaGaactcaaactcaaggggatt	10	11	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:75004134G>T	ENST00000373359.2	-	1	945	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	251	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCCACAAGAACTCAAACT	0.498																																																	0													63	59	61					X																	75004134		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.753C>A	X.37:g.75004134G>T	ENSP00000362457:p.Phe251Leu		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F251L	ENST00000373359.2	37	c.753	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231209	0.39399	.	.	ENSG00000186675	ENST00000373359	T	0.05649	3.41	3.1	2.23	0.28157	.	.	.	.	.	T	0.11452	0.0279	M	0.68728	2.09	0.20196	N	0.999926	P	0.46395	0.877	P	0.48488	0.579	T	0.14868	-1.0457	9	0.62326	D	0.03	.	5.2674	0.15607	0.1633:0.0:0.8367:0.0	.	251	Q8TD90	MAGE2_HUMAN	L	251	ENSP00000362457:F251L	ENSP00000362457:F251L	F	-	3	2	MAGEE2	74920859	1.000000	0.71417	0.431000	0.26735	0.935000	0.57460	0.958000	0.29227	0.689000	0.31550	0.422000	0.28245	TTC	MAGEE2	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	G	NM_138703		75004134	-1	no_errors	ENST00000373359	ensembl	human	known	70_37	missense	SNP	0.428	T	T	75004134	G	T	75004134	3	4	131	1	0	0	0	0	1	0	0	0	9209	933	33	3	822	3	MAGEE2	23	75004134	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1038721	75004134	80266426	2010	22150										
MAGEE1	57692	genome.wustl.edu	37	chrX	75648352	75648352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggtaagccagaattcgcgccGccgccgccgccgcgttgcaa	13	16	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:75648352G>A	ENST00000361470.2	+	1	307	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	10	Poly-Arg.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AATTcgcgccgccgccgccgc	0.667																																																	0													12	15	14					X																	75648352		2180	4260	6440	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.29G>A	X.37:g.75648352G>A	ENSP00000354912:p.Arg10His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R10H	ENST00000361470.2	37	c.29	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476166	0.63737	.	.	ENSG00000198934	ENST00000361470	T	0.03772	3.81	1.33	1.33	0.21861	.	.	.	.	.	T	0.06962	0.0177	N	0.19112	0.55	0.25209	N	0.99	D	0.65815	0.995	P	0.58520	0.84	T	0.35276	-0.9795	9	0.87932	D	0	.	5.5795	0.17243	0.0:0.0:1.0:0.0	.	10	Q9HCI5	MAGE1_HUMAN	H	10	ENSP00000354912:R10H	ENSP00000354912:R10H	R	+	2	0	MAGEE1	75564756	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	1.254000	0.32897	0.944000	0.37579	0.600000	0.82982	CGC	MAGEE1	-	NULL		0.667	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75648352	1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.988	A	A	75648352	G	A	75648352	3	1	131	1	0	0	0	0	1	0	0	0	9208	1087	38	2	31	2	MAGEE1	23	75648352	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	644218	75648352	79622208	2011	22151										
BRWD3	254065	genome.wustl.edu	37	chrX	79991582	79991582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tttgtgcctttagttgatggAcaaaacttaaaaaaaaaaaa	6	4	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:79991582A>G	ENST00000373275.4	-	9	1035	c.819T>C	c.(817-819)tgT>tgC	p.C273C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	273					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAGTTGATGGACAAAACTTAA	0.313																																																	0													47	43	44					X																	79991582		2203	4297	6500	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.819T>C	X.37:g.79991582A>G			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.C273	ENST00000373275.4	37	c.819	CCDS14447.1	X																																																																																			BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.313	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	A	NM_153252		79991582	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	1.000	G	G	79991582	A	G	79991582	2	3	131	1	0	0	0	0	0	0	0	1	1529	273	10	5		5	BRWD3	23	79991582	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	4343230	79991582	75278978	2012	22152										
POU3F4	5456	genome.wustl.edu	37	chrX	82763444	82763444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tccgcaaccctcagaaacttCtccaaagtgattacttgcag	6	13	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:82763444C>A	ENST00000373200.2	+	1	176	c.112C>A	c.(112-114)Ctc>Atc	p.L38I	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	38					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCAGAAACTTCTCCAAAGTGA	0.587																																																	0													47	36	39					X																	82763444		2203	4300	6503	SO:0001583	missense	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.112C>A	X.37:g.82763444C>A	ENSP00000362296:p.Leu38Ile		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.L38I	ENST00000373200.2	37	c.112	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496596	0.26861	.	.	ENSG00000196767	ENST00000373200	D	0.86164	-2.08	4.46	3.59	0.41128	.	0.146288	0.46145	D	0.000302	D	0.83202	0.5203	L	0.53249	1.67	0.38136	D	0.938312	B	0.29481	0.245	B	0.27170	0.077	T	0.81636	-0.0843	10	0.41790	T	0.15	.	12.6908	0.56974	0.0:0.8365:0.1635:0.0	.	38	P49335	PO3F4_HUMAN	I	38	ENSP00000362296:L38I	ENSP00000362296:L38I	L	+	1	0	POU3F4	82650100	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.702000	0.37836	0.983000	0.38602	0.597000	0.82753	CTC	POU3F4	-	pirsf_Transcription_factor_POU		0.587	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	C	NM_000307		82763444	1	no_errors	ENST00000373200	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82763444	C	A	82763444	3	1	131	1	0	0	0	0	1	0	0	0	12301	913	32	3	114	3	POU3F4	23	82763444	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2771862	82763444	72507116	2013	22153										
CHM	1121	genome.wustl.edu	37	chrX	85218695	85218695	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atactaaatcaatattaaatCtcctgccttctttaataatt	1	8	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:85218695C>A	ENST00000357749.2	-	5	706	c.677G>T	c.(676-678)aGa>aTa	p.R226I	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.R78I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	226					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AATATTAAATCTCCTGCCTTC	0.343																																																	0													55	46	49					X																	85218695		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.677G>T	X.37:g.85218695C>A	ENSP00000350386:p.Arg226Ile		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.R226I	ENST00000357749.2	37	c.677	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270275	0.59540	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.86432	-2.12;-2.12	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.92169	3.28	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.95814	0.8844	10	0.59425	D	0.04	-12.6406	16.7714	0.85538	0.0:1.0:0.0:0.0	.	226	P24386	RAE1_HUMAN	I	226;78	ENSP00000350386:R226I;ENSP00000441728:R78I	ENSP00000350386:R226I	R	-	2	0	CHM	85105351	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	2.330000	0.43885	1.962000	0.57031	0.284000	0.19432	AGA	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor		0.343	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	C	NM_000390		85218695	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85218695	C	A	85218695	3	1	131	1	0	0	0	0	1	0	0	0	3355	913	32	3	1328	3	CHM	23	85218695	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	2455251	85218695	70051865	2014	22154										
KLHL4	56062	genome.wustl.edu	37	chrX	86869044	86869044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acacctccgcatcccagcccAtaggtaagtatttttatgta	6	12	0	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:86869044A>G	ENST00000373119.4	+	2	732	c.587A>G	c.(586-588)cAt>cGt	p.H196R	KLHL4_ENST00000373114.4_Missense_Mutation_p.H196R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	196	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATCCCAGCCCATAGGTAAGTA	0.358																																																	0													97	87	90					X																	86869044		2203	4299	6502	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.587A>G	X.37:g.86869044A>G	ENSP00000362211:p.His196Arg		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.H196R	ENST00000373119.4	37	c.587	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	a	15.03	2.713036	0.48517	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79749	-1.3;-1.3	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.211793	0.48767	D	0.000166	D	0.93923	0.8055	H	0.99740	4.74	0.80722	D	1	D;D	0.54397	0.966;0.958	D;P	0.63488	0.915;0.885	D	0.95895	0.8910	10	0.87932	D	0	.	13.1539	0.59505	1.0:0.0:0.0:0.0	.	196;196	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	196	ENSP00000362211:H196R;ENSP00000362206:H196R	ENSP00000362206:H196R	H	+	2	0	KLHL4	86755700	1.000000	0.71417	0.692000	0.30179	0.185000	0.23345	8.744000	0.91596	1.698000	0.51180	0.409000	0.27619	CAT	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.358	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	A			86869044	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86869044	A	G	86869044	3	3	131	1	0	0	0	0	1	0	0	0	8411	217	8	5	593	5	KLHL4	23	86869044	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1650349	86869044	68401516	2015	22155										
CPXCR1	53336	genome.wustl.edu	37	chrX	88009171	88009171	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agtatttttaatataaaaggTtttgtggatatattgacata	7	1	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:88009171T>G	ENST00000276127.4	+	3	1015	c.756T>G	c.(754-756)ggT>ggG	p.G252G	CPXCR1_ENST00000373111.1_Silent_p.G252G	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	252							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATATAAAAGGTTTTGTGGATA	0.333																																																	0													31	29	30					X																	88009171		2202	4294	6496	SO:0001819	synonymous_variant	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.756T>G	X.37:g.88009171T>G			B2R9F9|D3DTE7|Q96RS3	Silent	SNP	pfscan_Znf_C2H2	p.G252	ENST00000276127.4	37	c.756	CCDS14458.1	X																																																																																			CPXCR1	-	NULL		0.333	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	T	NM_033048		88009171	1	no_errors	ENST00000276127	ensembl	human	known	70_37	silent	SNP	0.057	G	G	88009171	T	G	88009171	2	3	131	1	0	0	0	0	0	0	0	1	3841	1712	60	5		5	CPXCR1	23	88009171	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1140127	88009171	67261389	2016	22156										
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177609	89177609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agagagaagcaaccagatccGgagtcggcccctagccagaa	12	12	0	4	rs150815384	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:89177609G>A	ENST00000561129.2	+	1	655	c.525G>A	c.(523-525)ccG>ccA	p.P175P	TGIF2LX_ENST00000283891.5_Silent_p.P175P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AACCAGATCCGGAGTCGGCCC	0.572													G|||	4	0.0010596	0.0015	0	3775	,	,		11989	0		0	False		,,,				2504	0.002																0								G		18,3817		0,15,3,1617,568	42	48	46		525	0.6	0	X	dbSNP_134	46	0,6724		0,0,0,2426,1872	no	coding-synonymous	TGIF2LX	NM_138960.3		0,15,3,4043,2440	AA,AG,A,GG,G		0.0,0.4694,0.1705		175/242	89177609	18,10541	2203	4298	6501	SO:0001819	synonymous_variant	90316			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.525G>A	X.37:g.89177609G>A			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P175	ENST00000561129.2	37	c.525	CCDS14459.1	X																																																																																			TGIF2LX	-	NULL		0.572	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	G	NM_138960		89177609	1	no_errors	ENST00000283891	ensembl	human	known	70_37	silent	SNP	0.002	A	A	89177609	G	A	89177609	2	1	131	1	0	0	0	0	0	0	0	1	15857	1103	39	2		2	TGIF2LX	23	89177609	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1168438	89177609	66092951	2017	22157										
PABPC5	140886	genome.wustl.edu	37	chrX	90690779	90690779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgggtatgttaacttccgctTtcccgcggatgcagagtggg	14	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:90690779T>C	ENST00000312600.3	+	2	417	c.203T>C	c.(202-204)tTt>tCt	p.F68S	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	68	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AACTTCCGCTTTCCCGCGGAT	0.522																																																	0													38	31	33					X																	90690779		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.203T>C	X.37:g.90690779T>C	ENSP00000308012:p.Phe68Ser		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.F68S	ENST00000312600.3	37	c.203	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	7.986	0.752141	0.15778	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.04360	3.64	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111999	0.64402	D	0.000007	T	0.01092	0.0036	N	0.00072	-2.265	0.39176	D	0.96268	B	0.25272	0.122	B	0.30855	0.121	T	0.49380	-0.8946	10	0.25106	T	0.35	.	6.3608	0.21427	0.2222:0.0:0.0:0.7778	.	68	Q96DU9	PABP5_HUMAN	S	68;36	ENSP00000308012:F68S	ENSP00000308012:F68S	F	+	2	0	PABPC5	90577435	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.715000	0.47210	1.907000	0.55213	0.486000	0.48141	TTT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.522	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	T	NM_080832		90690779	1	no_errors	ENST00000312600	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90690779	T	C	90690779	3	2	131	1	0	0	0	0	1	0	0	0	11391	1841	64	5	205	5	PABPC5	23	90690779	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1513170	90690779	64579781	2018	22158										
PCDH11X	27328	genome.wustl.edu	37	chrX	91133869	91133869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaaaagaagaagaagcattCccctaagaacttgctgctta	8	8	0	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:91133869C>T	ENST00000373094.1	+	2	3475	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	PCDH11X_ENST00000361724.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S877F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S877F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	877					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aagaagCATTCCCCTAAGAAC	0.393																																					NSCLC(38;925 1092 2571 38200 45895)												0													94	85	88					X																	91133869		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2630C>T	X.37:g.91133869C>T	ENSP00000362186:p.Ser877Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S877F	ENST00000373094.1	37	c.2630	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832317	0.32421	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.84	2.95	0.34219	Protocadherin (1);	0.537282	0.20625	N	0.088689	T	0.49898	0.1584	L	0.49778	1.585	0.24477	N	0.99437	P;B;P;P;P;P;B;B	0.40230	0.488;0.348;0.659;0.659;0.659;0.708;0.208;0.208	P;P;P;P;P;P;P;P	0.53988	0.622;0.495;0.495;0.495;0.495;0.739;0.495;0.495	T	0.40365	-0.9567	10	0.87932	D	0	.	9.1296	0.36837	0.0:0.769:0.1437:0.0873	.	877;877;877;877;877;877;877;877	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	877	ENSP00000378746:S877F;ENSP00000362186:S877F;ENSP00000362189:S877F;ENSP00000355040:S877F;ENSP00000362180:S877F;ENSP00000423762:S877F;ENSP00000355105:S877F;ENSP00000384758:S877F;ENSP00000298274:S877F	ENSP00000298274:S877F	S	+	2	0	PCDH11X	91020525	0.997000	0.39634	0.986000	0.45419	0.752000	0.42762	2.754000	0.47532	0.952000	0.37798	0.600000	0.82982	TCC	PCDH11X	-	pfam_Protocadherin		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91133869	1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91133869	C	T	91133869	3	4	131	1	0	0	0	0	1	0	0	0	11532	855	30	1	2636	1	PCDH11X	23	91133869	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	443090	91133869	64136691	2019	22159										
FAM133A	286499	genome.wustl.edu	37	chrX	92964553	92964553	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cccacctgggaagaagtaaaGaaacaattagaaaataaaaa	7	6	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:92964553G>T	ENST00000355813.5	+	4	661	c.135G>T	c.(133-135)aaG>aaT	p.K45N	FAM133A_ENST00000538690.1_Missense_Mutation_p.K45N|FAM133A_ENST00000332647.4_Missense_Mutation_p.K45N|FAM133A_ENST00000322139.4_Missense_Mutation_p.K45N	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	45	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAGTAAAGAAACAATTAG	0.368																																																	0													26	26	26					X																	92964553		2177	4276	6453	SO:0001583	missense	286499			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.135G>T	X.37:g.92964553G>T	ENSP00000348067:p.Lys45Asn			Missense_Mutation	SNP	NULL	p.K45N	ENST00000355813.5	37	c.135	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	14.78	2.638688	0.47153	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	3.07	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.85197	2.74	0.24192	N	0.995546	D	0.54964	0.969	P	0.54431	0.752	T	0.52660	-0.8546	10	0.72032	D	0.01	-4.6298	4.4357	0.11549	0.2164:0.0:0.7836:0.0	.	45	Q8N9E0	F133A_HUMAN	N	45	ENSP00000441389:K45N;ENSP00000348067:K45N;ENSP00000318974:K45N;ENSP00000362169:K45N	ENSP00000318974:K45N	K	+	3	2	FAM133A	92851209	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	2.522000	0.45572	0.603000	0.29913	0.591000	0.81541	AAG	FAM133A	-	NULL		0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	G	NM_173698		92964553	1	no_errors	ENST00000322139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92964553	G	T	92964553	3	4	131	1	0	0	0	0	1	0	0	0	5458	933	33	3	137	3	FAM133A	23	92964553	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1830684	92964553	62306007	2020	22160										
NOX1	27035	genome.wustl.edu	37	chrX	100105261	100105261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agaggtcaaagtaaaaggatGccattccaggagagagattg	13	5	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100105261G>A	ENST00000372966.3	-	9	1217	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	NOX1_ENST00000372960.4_Missense_Mutation_p.H301Y|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.H338Y	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	338	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTAAAAGGATGCCATTCCAGG	0.453																																																	0													66	61	62					X																	100105261		2203	4300	6503	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1012C>T	X.37:g.100105261G>A	ENSP00000362057:p.His338Tyr		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.H338Y	ENST00000372966.3	37	c.1012	CCDS14474.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.52|16.52	3.147481|3.147481	0.57151|0.57151	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000427768|ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	.|D;D;D	.|0.98792	.|-5.14;-5.14;-5.14	3.87|3.87	3.87|3.87	0.44632|0.44632	.|Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99518|0.99518	0.9828|0.9828	H|H	0.99143|0.99143	4.445|4.445	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.996;0.997;0.999	D|D	0.97682|0.97682	1.0173|1.0173	5|10	.|0.87932	.|D	.|0	-9.5558|-9.5558	14.1697|14.1697	0.65500|0.65500	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|301;338;338	.|A6NGA6;Q9Y5S8-3;Q9Y5S8	.|.;.;NOX1_HUMAN	V|Y	22|338;338;301;27	.|ENSP00000362057:H338Y;ENSP00000217885:H338Y;ENSP00000362051:H301Y	.|ENSP00000217885:H338Y	A|H	-|-	2|1	0|0	NOX1|NOX1	99991917|99991917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	8.572000|8.572000	0.90756|0.90756	1.767000|1.767000	0.52121|0.52121	0.422000|0.422000	0.28245|0.28245	GCA|CAT	NOX1	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	G	NM_007052		100105261	-1	no_errors	ENST00000372966	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100105261	G	A	100105261	3	1	131	1	0	0	0	0	1	0	0	0	10580	1319	46	4	702	4	NOX1	23	100105261	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	7140708	100105261	55165299	2021	22161										
TRMT2B	79979	genome.wustl.edu	37	chrX	100276201	100276201	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gttaatctggaaaaaggcatCtggagagatgcggatcttca	12	6	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100276201C>A	ENST00000372936.3	-	10	1727	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	TRMT2B_ENST00000478422.1_5'Flank|TRMT2B_ENST00000338687.7_Missense_Mutation_p.D274Y|TRMT2B_ENST00000545398.1_Missense_Mutation_p.D319Y|TRMT2B_ENST00000372939.1_Missense_Mutation_p.D274Y|TRMT2B_ENST00000372935.1_Missense_Mutation_p.D319Y|TRMT2B_ENST00000372931.5_Missense_Mutation_p.D319Y	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	319						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAAAAGGCATCTGGAGAGATG	0.502																																																	0													116	101	106					X																	100276201		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.955G>T	X.37:g.100276201C>A	ENSP00000362027:p.Asp319Tyr		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.D319Y	ENST00000372936.3	37	c.955	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326374	0.60743	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.46819	0.87;0.86;0.87;0.86;0.86;0.86	4.86	4.86	0.63082	.	0.476696	0.23142	N	0.051455	T	0.57286	0.2043	L	0.61387	1.9	0.48341	D	0.999638	D;B;B	0.60575	0.988;0.315;0.167	P;B;B	0.58391	0.838;0.109;0.07	T	0.58200	-0.7678	10	0.48119	T	0.1	-5.8108	8.606	0.33773	0.0:0.8925:0.0:0.1075	.	274;319;319	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	Y	274;319;274;319;319;319	ENSP00000340970:D274Y;ENSP00000438134:D319Y;ENSP00000362030:D274Y;ENSP00000362026:D319Y;ENSP00000362027:D319Y;ENSP00000362022:D319Y	ENSP00000340970:D274Y	D	-	1	0	TRMT2B	100162857	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.708000	0.61859	2.155000	0.67459	0.600000	0.82982	GAT	TRMT2B	-	pfam_U5_MeTrfase		0.502	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	C	NM_024917		100276201	-1	no_errors	ENST00000372935	ensembl	human	known	70_37	missense	SNP	0.973	A	A	100276201	C	A	100276201	3	1	131	1	0	0	0	0	1	0	0	0	16597	913	32	3	579	3	TRMT2B	23	100276201	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	170940	100276201	54994359	2022	22162										
TRMT2B	79979	genome.wustl.edu	37	chrX	100297126	100297126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtggctatcacacgggtgaaAtctcccttacatactgtgcc	9	12	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100297126A>C	ENST00000372936.3	-	3	925	c.153T>G	c.(151-153)gaT>gaG	p.D51E	TRMT2B-AS1_ENST00000443801.2_RNA|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000338687.7_Missense_Mutation_p.D51E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.D51E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.D51E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.D51E|TRMT2B_ENST00000372931.5_Missense_Mutation_p.D51E	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	51						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CACGGGTGAAATCTCCCTTAC	0.488																																																	0													142	119	127					X																	100297126		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.153T>G	X.37:g.100297126A>C	ENSP00000362027:p.Asp51Glu		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.D51E	ENST00000372936.3	37	c.153	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	A	6.844	0.524968	0.13066	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.71	2.08	0.27032	.	0.859986	0.10293	N	0.692151	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.009;0.033;0.005	B;B;B	0.14023	0.01;0.005;0.005	T	0.32929	-0.9888	10	0.02654	T	1	-3.7533	2.6156	0.04902	0.5449:0.2753:0.1799:0.0	.	51;51;51	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	E	51	ENSP00000340970:D51E;ENSP00000438134:D51E;ENSP00000362030:D51E;ENSP00000362026:D51E;ENSP00000362027:D51E;ENSP00000362022:D51E	ENSP00000340970:D51E	D	-	3	2	TRMT2B	100183782	0.982000	0.34865	0.178000	0.23040	0.023000	0.10783	0.837000	0.27558	0.676000	0.31285	0.417000	0.27973	GAT	TRMT2B	-	NULL		0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	A	NM_024917		100297126	-1	no_errors	ENST00000372935	ensembl	human	known	70_37	missense	SNP	0.228	C	C	100297126	A	C	100297126	3	2	131	1	0	0	0	0	1	0	0	0	16597	98	4	5	1409	5	TRMT2B	23	100297126	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	20925	100297126	54973434	2023	22163										
DRP2	1821	genome.wustl.edu	37	chrX	100510235	100510235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cagcttgtccccagatgacaGcatgtgagtttccacagctg	10	12	0	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100510235G>T	ENST00000395209.3	+	20	2770	c.2243G>T	c.(2242-2244)aGc>aTc	p.S748I	DRP2_ENST00000541709.1_Missense_Mutation_p.S670I|DRP2_ENST00000538510.1_Missense_Mutation_p.S748I|DRP2_ENST00000402866.1_Missense_Mutation_p.S748I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	748					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCAGATGACAGCATGTGAGTT	0.458																																																	0													151	128	136					X																	100510235		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2243G>T	X.37:g.100510235G>T	ENSP00000378635:p.Ser748Ile		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.S748I	ENST00000395209.3	37	c.2243	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769193	0.69992	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.09	5.09	0.68999	.	0.085098	0.85682	D	0.000000	D	0.92008	0.7468	M	0.74389	2.26	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.92782	0.6241	10	0.66056	D	0.02	-0.7122	17.2308	0.86984	0.0:0.0:1.0:0.0	.	748	Q13474	DRP2_HUMAN	I	748;748;670;748	ENSP00000385038:S748I;ENSP00000378635:S748I;ENSP00000444752:S670I;ENSP00000441051:S748I	ENSP00000378635:S748I	S	+	2	0	DRP2	100396891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.356000	0.79943	0.529000	0.55759	AGC	DRP2	-	pirsf_Dystrophin-related_2		0.458	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	G	NM_001939		100510235	1	no_errors	ENST00000395209	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100510235	G	T	100510235	3	4	131	1	0	0	0	0	1	0	0	0	4774	971	34	4	2313	4	DRP2	23	100510235	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	213109	100510235	54760325	2024	22164										
ARMCX2	9823	genome.wustl.edu	37	chrX	100911003	100911003	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attttcaaaatctcaaccttGatttttccacctccctgaga	3	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100911003G>T	ENST00000328766.5	-	5	2025	c.1572C>A	c.(1570-1572)atC>atA	p.I524I	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.I524I|ARMCX2_ENST00000356824.4_Silent_p.I524I	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	524						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTCAACCTTGATTTTTCCAC	0.373																																																	0													94	94	94					X																	100911003		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1572C>A	X.37:g.100911003G>T			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.I524	ENST00000328766.5	37	c.1572	CCDS14490.1	X																																																																																			ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.373	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100911003	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100911003	G	T	100911003	2	4	131	1	0	0	0	0	0	0	0	1	961	1280	45	3		3	ARMCX2	23	100911003	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	400768	100911003	54359557	2025	22165										
ARMCX2	9823	genome.wustl.edu	37	chrX	100912263	100912263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gccccactctgagcctcagcGctggatgcagctggggccac	13	16	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100912263G>A	ENST00000328766.5	-	5	765	c.312C>T	c.(310-312)agC>agT	p.S104S	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.S104S|ARMCX2_ENST00000356824.4_Silent_p.S104S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	104	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAGCCTCAGCGCTGGATGCAG	0.637																																																	0													43	42	42					X																	100912263		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.312C>T	X.37:g.100912263G>A			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.S104	ENST00000328766.5	37	c.312	CCDS14490.1	X																																																																																			ARMCX2	-	NULL		0.637	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100912263	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	0.002	A	A	100912263	G	A	100912263	2	1	131	1	0	0	0	0	0	0	0	1	961	1078	38	2		2	ARMCX2	23	100912263	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1260	100912263	54358297	2026	22166										
GPRASP1	9737	genome.wustl.edu	37	chrX	101911364	101911364	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaagctgaagaggaagaagtCattattgggtcctggttctg	13	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:101911364C>A	ENST00000361600.5	+	5	3324	c.2523C>A	c.(2521-2523)gtC>gtA	p.V841V	GPRASP1_ENST00000444152.1_Silent_p.V841V|GPRASP1_ENST00000537097.1_Silent_p.V841V|GPRASP1_ENST00000415986.1_Silent_p.V841V|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	841	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAGAAGTCATTATTGGGT	0.522																																																	0													91	94	93					X																	101911364		2203	4300	6503	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2523C>A	X.37:g.101911364C>A			O43168|Q96LA1	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.V841	ENST00000361600.5	37	c.2523	CCDS35352.1	X																																																																																			GPRASP1	-	NULL		0.522	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101911364	1	no_errors	ENST00000361600	ensembl	human	known	70_37	silent	SNP	0.000	A	A	101911364	C	A	101911364	2	1	131	1	0	0	0	0	0	0	0	1	6742	813	29	3		3	GPRASP1	23	101911364	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	999101	101911364	53359196	2027	22167										
TCEAL3	85012	genome.wustl.edu	37	chrX	102864443	102864443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gagatgtgtcaagggctcaaGaggagctaaggaaaaaacag	14	5	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:102864443G>T	ENST00000372628.1	+	3	809	c.451G>T	c.(451-453)Gag>Tag	p.E151*	TCEAL3_ENST00000372627.5_Nonsense_Mutation_p.E151*|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Nonsense_Mutation_p.E151*			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGGGCTCAAGAGGAGCTAAG	0.507																																																	0													294	254	268					X																	102864443		2203	4300	6503	SO:0001587	stop_gained	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.451G>T	X.37:g.102864443G>T	ENSP00000361711:p.Glu151*		D3DXA4	Nonsense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.E151*	ENST00000372628.1	37	c.451	CCDS14511.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.695267	0.96793	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	.	.	.	4.59	3.72	0.42706	.	0.000000	0.39909	N	0.001222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.5257	0.39162	0.0:0.2083:0.7917:0.0	.	.	.	.	X	151	.	ENSP00000243286:E151X	E	+	1	0	TCEAL3	102751099	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.210000	0.42816	1.257000	0.44085	0.538000	0.68166	GAG	TCEAL3	-	pfam_TF_A-like/BEX-like		0.507	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	G	NM_032926		102864443	1	no_errors	ENST00000243286	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	102864443	G	T	102864443	4	4	131	1	0	0	0	0	0	1	0	0	15702	943	33	3	453	3	TCEAL3	23	102864443	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	953079	102864443	52406117	2028	22168										
ZCCHC18	644353	genome.wustl.edu	37	chrX	103359951	103359951	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atcaccctgcaggagctgacAcatacagaggagaggtcaaa	11	10	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:103359951A>C	ENST00000537356.3	+	2	2563	c.1149A>C	c.(1147-1149)acA>acC	p.T383T	ZCCHC18_ENST00000422784.1_3'UTR|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	383							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										AGGAGCTGACACATACAGAGG	0.488																																																	0													66	54	58					X																	103359951		692	1591	2283	SO:0001819	synonymous_variant	644353			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1149A>C	X.37:g.103359951A>C				RNA	SNP	-	NULL	ENST00000537356.3	37	NULL		X																																																																																			ZCCHC18	-	-		0.488	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	A	NM_001143978		103359951	1	no_errors	ENST00000422784	ensembl	human	known	70_37	rna	SNP	0.000	C	C	103359951	A	C	103359951	2	2	131	1	0	0	0	0	0	0	0	1	17616	146	6	5		5	ZCCHC18	23	103359951	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	495508	103359951	51910609	2029	22169										
IL1RAPL2	26280	genome.wustl.edu	37	chrX	105011023	105011023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tattatcgtgctaactccagActatattctcagacggggat	8	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105011023A>G	ENST00000372582.1	+	11	2186	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D477G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	477	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTAACTCCAGACTATATTCTC	0.378																																																	0													91	83	85					X																	105011023		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1430A>G	X.37:g.105011023A>G	ENSP00000361663:p.Asp477Gly		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.D477G	ENST00000372582.1	37	c.1430	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536159	0.27475	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02606	4.23;4.23;4.23	5.39	4.23	0.50019	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.086755	0.49916	D	0.000139	T	0.03564	0.0102	L	0.45051	1.395	0.53005	D	0.999964	B	0.15141	0.012	B	0.16722	0.016	T	0.42865	-0.9426	10	0.49607	T	0.09	.	9.4701	0.38837	0.916:0.0:0.084:0.0	.	477	Q9NP60	IRPL2_HUMAN	G	477;477;82	ENSP00000361663:D477G;ENSP00000344976:D477G;ENSP00000445576:D82G	ENSP00000344976:D477G	D	+	2	0	IL1RAPL2	104897679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.023000	0.64084	0.694000	0.31654	0.486000	0.48141	GAC	IL1RAPL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	A	NM_017416		105011023	1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105011023	A	G	105011023	3	3	131	1	0	0	0	0	1	0	0	0	7682	275	10	5	1468	5	IL1RAPL2	23	105011023	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1651072	105011023	50259537	2030	22170										
SERPINA7	6906	genome.wustl.edu	37	chrX	105280684	105280684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgcaattccagttccttcttTggaaaattcagtgaacagat	7	8	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105280684T>C	ENST00000327674.4	-	1	701	c.366A>G	c.(364-366)ccA>ccG	p.P122P	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.P122P			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	122					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTTCCTTCTTTGGAAAATTCA	0.448																																																	0													116	115	115					X																	105280684		2203	4299	6502	SO:0001819	synonymous_variant	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.366A>G	X.37:g.105280684T>C			D3DUX1	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.P122	ENST00000327674.4	37	c.366	CCDS14518.1	X																																																																																			SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.448	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	T	NM_000354		105280684	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	silent	SNP	0.066	C	C	105280684	T	C	105280684	2	2	131	1	0	0	0	0	0	0	0	1	14124	1799	63	5		5	SERPINA7	23	105280684	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	269661	105280684	49989876	2031	22171										
SERPINA7	6906	genome.wustl.edu	37	chrX	105280795	105280795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctcagtttgggtgctgcaGcaggccccaaaggaaagcat	12	10	1	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105280795G>A	ENST00000327674.4	-	1	590	c.255C>T	c.(253-255)tgC>tgT	p.C85C	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.C85C			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	85					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGGTGCTGCAGCAGGCCCCAA	0.502																																																	0													85	76	79					X																	105280795		2203	4300	6503	SO:0001819	synonymous_variant	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.255C>T	X.37:g.105280795G>A			D3DUX1	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.C85	ENST00000327674.4	37	c.255	CCDS14518.1	X																																																																																			SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.502	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	G	NM_000354		105280795	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	silent	SNP	0.001	A	A	105280795	G	A	105280795	2	1	131	1	0	0	0	0	0	0	0	1	14124	963	34	4		4	SERPINA7	23	105280795	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	111	105280795	49989765	2032	22172										
MUM1L1	139221	genome.wustl.edu	37	chrX	105449951	105449951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cacaagcacccacaatggtcGatactattccaagtgaagtg	8	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105449951G>A	ENST00000357175.2	+	4	1175	c.526G>A	c.(526-528)Gat>Aat	p.D176N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.D176N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.D176N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	176						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CACAATGGTCGATACTATTCC	0.408																																																	0													59	49	52					X																	105449951		1895	4103	5998	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.526G>A	X.37:g.105449951G>A	ENSP00000349699:p.Asp176Asn		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.D176N	ENST00000357175.2	37	c.526	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	5.014	0.188355	0.09547	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.22743	1.94;1.94;1.94	4.21	-2.49	0.06403	.	1.619440	0.03586	N	0.231086	T	0.17195	0.0413	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.17832	T	0.49	-18.4785	4.7021	0.12832	0.4208:0.0:0.4299:0.1493	.	176	Q5H9M0	MUML1_HUMAN	N	176	ENSP00000349699:D176N;ENSP00000338641:D176N;ENSP00000361632:D176N	ENSP00000338641:D176N	D	+	1	0	MUM1L1	105336607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	-0.515000	0.06479	-1.016000	0.02456	GAT	MUM1L1	-	NULL		0.408	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	G	NM_152423		105449951	1	no_errors	ENST00000337685	ensembl	human	known	70_37	missense	SNP	0.000	A	A	105449951	G	A	105449951	3	1	131	1	0	0	0	0	1	0	0	0	10009	1058	37	1	528	1	MUM1L1	23	105449951	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	169156	105449951	49820609	2033	22173										
MUM1L1	139221	genome.wustl.edu	37	chrX	105451316	105451316	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgccaacttggataaaagatGataaaattaaatttatccta	5	5	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105451316G>T	ENST00000357175.2	+	4	2540	c.1891G>T	c.(1891-1893)Gat>Tat	p.D631Y	MUM1L1_ENST00000337685.2_Missense_Mutation_p.D631Y|MUM1L1_ENST00000372552.1_Missense_Mutation_p.D631Y	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	631						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAAAAGATGATAAAATTAA	0.333																																																	0													20	18	19					X																	105451316		1799	4039	5838	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1891G>T	X.37:g.105451316G>T	ENSP00000349699:p.Asp631Tyr		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.D631Y	ENST00000357175.2	37	c.1891	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442252	0.25987	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.54279	0.58;0.58;0.58	4.89	4.89	0.63831	.	0.000000	0.53938	D	0.000044	T	0.70605	0.3243	M	0.73598	2.24	0.41378	D	0.98753	D	0.89917	1.0	D	0.91635	0.999	T	0.74592	-0.3614	10	0.87932	D	0	-26.4903	12.3722	0.55261	0.0:0.0:1.0:0.0	.	631	Q5H9M0	MUML1_HUMAN	Y	631	ENSP00000349699:D631Y;ENSP00000338641:D631Y;ENSP00000361632:D631Y	ENSP00000338641:D631Y	D	+	1	0	MUM1L1	105337972	1.000000	0.71417	0.985000	0.45067	0.095000	0.18619	4.823000	0.62694	2.412000	0.81896	0.600000	0.82982	GAT	MUM1L1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.333	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	G	NM_152423		105451316	1	no_errors	ENST00000337685	ensembl	human	known	70_37	missense	SNP	0.982	T	T	105451316	G	T	105451316	3	4	131	1	0	0	0	0	1	0	0	0	10009	1290	45	3	1893	3	MUM1L1	23	105451316	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1365	105451316	49819244	2034	22174										
TBC1D8B	54885	genome.wustl.edu	37	chrX	106066571	106066571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatcactacttttcaatgttTttgcacattaaccaaacata	2	9	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106066571T>G	ENST00000357242.5	+	5	876	c.702T>G	c.(700-702)ttT>ttG	p.F234L	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.F234L|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.F234L|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F234L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	234							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCAATGTTTTTGCACATTA	0.373																																																	0													121	107	112					X																	106066571		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.702T>G	X.37:g.106066571T>G	ENSP00000349781:p.Phe234Leu		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.F234L	ENST00000357242.5	37	c.702	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295295	0.40594	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.36520	2.44;1.85;1.25;2.45	5.73	4.46	0.54185	.	0.065314	0.64402	D	0.000005	T	0.23611	0.0571	N	0.25201	0.72	0.46874	D	0.999236	B;B;B	0.20988	0.007;0.05;0.007	B;B;B	0.23574	0.004;0.047;0.004	T	0.04885	-1.0920	10	0.30854	T	0.27	-19.7556	8.2291	0.31587	0.0:0.1204:0.0:0.8796	.	234;234;234	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	L	234	ENSP00000349781:F234L;ENSP00000310675:F234L;ENSP00000421375:F234L;ENSP00000276175:F234L	ENSP00000276175:F234L	F	+	3	2	TBC1D8B	105953227	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.662000	0.46766	0.659000	0.30945	0.481000	0.45027	TTT	TBC1D8B	-	NULL		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	T	NM_017752		106066571	1	no_errors	ENST00000357242	ensembl	human	known	70_37	missense	SNP	1.000	G	G	106066571	T	G	106066571	3	3	131	1	0	0	0	0	1	0	0	0	15656	1838	64	5	720	5	TBC1D8B	23	106066571	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	615255	106066571	49203989	2035	22175										
TBC1D8B	54885	genome.wustl.edu	37	chrX	106070569	106070569	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcatgatattagcacagaggTaattaattatacagcaatca	6	6	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106070569T>G	ENST00000357242.5	+	7	1377		c.e7+2		TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.V402G|TBC1D8B_ENST00000276175.3_Splice_Site	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCACAGAGGTAATTAATTAT	0.373																																																	0													61	62	62					X																	106070569		2203	4299	6502	SO:0001630	splice_region_variant	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1203+2T>G	X.37:g.106070569T>G			B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Splice_Site	SNP	-	e7+2	ENST00000357242.5	37	c.1203+2	CCDS14522.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.38|12.38	1.920662|1.920662	0.33908|0.33908	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175|ENST00000481617	.|T	.|0.25085	.|1.82	0.207|0.207	0.207|0.207	0.15214|0.15214	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14313	.|0.0346	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.26318	.|0.146	.|B	.|0.19148	.|0.024	.|T	.|0.12451	.|-1.0547	.|6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|402	.|D6RFZ2	.|.	.|G	-1|402	.|ENSP00000421375:V402G	.|.	.|V	+|+	.|2	.|0	TBC1D8B|TBC1D8B	105957225|105957225	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.564000|0.564000	0.35744|0.35744	0.297000|0.297000	0.19101|0.19101	0.234000|0.234000	0.21139|0.21139	0.231000|0.231000	0.17811|0.17811	.|GTA	TBC1D8B	-	-		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	T	NM_017752	Intron	106070569	1	no_errors	ENST00000357242	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	106070569	T	G	106070569	5	3	131	1	0	0	0	0	0	0	1	0	15656	1652	57	5	1231	5	TBC1D8B	23	106070569	Splice_Site	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	3998	106070569	49199991	2036	22176										
MORC4	79710	genome.wustl.edu	37	chrX	106186381	106186381	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gaaggtgttgtcatctcattCtggagccttcttcgtttctc	9	10	5	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106186381C>A	ENST00000355610.4	-	15	2014	c.1740G>T	c.(1738-1740)caG>caT	p.Q580H	MORC4_ENST00000255495.7_Missense_Mutation_p.Q580H|MORC4_ENST00000535534.1_Missense_Mutation_p.Q328H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	580						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TCATCTCATTCTGGAGCCTTC	0.448													C|||	1	0.000264901	0	0	3775	,	,		15169	0		0	False		,,,				2504	0.001																0													117	118	117					X																	106186381		2203	4300	6503	SO:0001583	missense	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1740G>T	X.37:g.106186381C>A	ENSP00000347821:p.Gln580His		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.Q580H	ENST00000355610.4	37	c.1740	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483385	0.44147	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.34275	2.62;1.37;2.6	5.16	0.926	0.19430	.	0.328667	0.22328	N	0.061502	T	0.45175	0.1329	L	0.54323	1.7	0.26533	N	0.974221	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.75484	0.986;0.986;0.986	T	0.28396	-1.0045	10	0.54805	T	0.06	-0.2856	2.7242	0.05209	0.1759:0.3812:0.3382:0.1047	.	328;580;580	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	H	580;328;580	ENSP00000347821:Q580H;ENSP00000440359:Q328H;ENSP00000255495:Q580H	ENSP00000255495:Q580H	Q	-	3	2	MORC4	106073037	0.976000	0.34144	0.995000	0.50966	0.895000	0.52256	0.366000	0.20365	0.041000	0.15688	0.544000	0.68410	CAG	MORC4	-	NULL		0.448	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	C	NM_024657		106186381	-1	no_errors	ENST00000355610	ensembl	human	known	70_37	missense	SNP	0.978	A	A	106186381	C	A	106186381	3	1	131	1	0	0	0	0	1	0	0	0	9727	912	32	3	1085	3	MORC4	23	106186381	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	115812	106186381	49084179	2037	22177										
MORC4	79710	genome.wustl.edu	37	chrX	106199763	106199763	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttctcctcaacagtttgttCtctaggagaagataaaagtg	8	8	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106199763C>A	ENST00000355610.4	-	13	1730	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*	MORC4_ENST00000255495.7_Splice_Site_p.E486*|MORC4_ENST00000535534.1_Splice_Site_p.E234*	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	486						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ACAGTTTGTTCTCTAGGAGAA	0.393																																																	0													163	131	142					X																	106199763		2203	4300	6503	SO:0001630	splice_region_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1455-1G>T	X.37:g.106199763C>A			A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Nonsense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.E486*	ENST00000355610.4	37	c.1456	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	C	43	10.196100	0.99357	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	.	.	.	5.2	5.2	0.72013	.	1.126860	0.06553	N	0.745435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	0.8193	13.5397	0.61666	0.0:1.0:0.0:0.0	.	.	.	.	X	486;234;486	.	ENSP00000255495:E486X	E	-	1	0	MORC4	106086419	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	1.457000	0.35212	2.505000	0.84491	0.538000	0.68166	GAA	MORC4	-	NULL		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	C	NM_024657	Nonsense_Mutation	106199763	-1	no_errors	ENST00000355610	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	106199763	C	A	106199763	5	1	131	1	0	0	0	0	0	0	1	0	9727	927	32	3	1377	3	MORC4	23	106199763	Splice_Site	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	13382	106199763	49070797	2038	22178										
CXorf41	139212	genome.wustl.edu	37	chrX	106486435	106486435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cttcctgagctggtggaatgTaccagtgccaaagcattcta	10	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106486435T>C	ENST00000372453.3	+	7	614	c.552T>C	c.(550-552)tgT>tgC	p.C184C	PIH1D3_ENST00000535523.1_Silent_p.C184C|PIH1D3_ENST00000336387.4_Silent_p.C184C	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	184																	TGGTGGAATGTACCAGTGCCA	0.343																																																	0													120	117	118					X																	106486435		2203	4299	6502	SO:0001819	synonymous_variant	139212			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"sarcoma antigen NY-SAR-97"		"chromosome X open reading frame 41"	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.552T>C	X.37:g.106486435T>C			D3DUX5|Q86WE1	Silent	SNP	pfam_PIH	p.C184	ENST00000372453.3	37	c.552	CCDS14528.1	X																																																																																			PIH1D3	-	pfam_PIH		0.343	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D3	HGNC	protein_coding	OTTHUMT00000057832.1	T	NM_173494		106486435	1	no_errors	ENST00000336387	ensembl	human	known	70_37	silent	SNP	0.000	C	C	106486435	T	C	106486435	2	2	131	1	0	0	0	0	0	0	0	1	4115	1644	57	5		5	CXorf41	23	106486435	Silent	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	286672	106486435	48784125	2039	22179										
PSMD10	5716	genome.wustl.edu	37	chrX	107330968	107330968	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtggatgctttgtagtacaGaaggatatgaatcatcttca	10	5	3	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:107330968G>T	ENST00000217958.3	-	4	572	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	PSMD10_ENST00000372295.1_Missense_Mutation_p.L118M|PSMD10_ENST00000361815.5_Intron|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000340200.5_Missense_Mutation_p.L126M	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	159	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTGTAGTACAGAAGGATATGA	0.463																																																	0													208	168	182					X																	107330968		2203	4300	6503	SO:0001583	missense	5716			AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"Proteasome (prosome, macropain) subunits", "Ankyrin repeat domain containing"	9555	protein-coding gene	gene with protein product	"gankyrin"	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.475C>A	X.37:g.107330968G>T	ENSP00000217958:p.Leu159Met		Q5U0B2|Q8IZK9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L159M	ENST00000217958.3	37	c.475	CCDS14536.1	X	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000101843	ENST00000217958;ENST00000372295;ENST00000340200	T;T;T	0.72505	-0.66;-0.66;-0.66	5.21	5.21	0.72293	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	D	0.84124	0.5403	M	0.88377	2.95	0.58432	D	0.999998	D;P	0.69078	0.997;0.95	D;D	0.69479	0.964;0.911	D	0.86461	0.1779	10	0.87932	D	0	-0.6418	9.5668	0.39402	0.0813:0.141:0.7776:0.0	.	118;159	B1AJY5;O75832	.;PSD10_HUMAN	M	159;118;126	ENSP00000217958:L159M;ENSP00000361369:L118M;ENSP00000345963:L126M	ENSP00000217958:L159M	L	-	1	2	PSMD10	107217624	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.575000	0.53870	2.159000	0.67721	0.513000	0.50165	CTG	PSMD10	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.463	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD10	HGNC	protein_coding	OTTHUMT00000057868.1	G	NM_170750		107330968	-1	no_errors	ENST00000217958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107330968	G	T	107330968	3	4	131	1	0	0	0	0	1	0	0	0	12720	933	33	3	213	3	PSMD10	23	107330968	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	844533	107330968	47939592	2040	22180										
COL4A6	1288	genome.wustl.edu	37	chrX	107431200	107431200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cattccttggattgtactgaGaattggttcccccttctttc	7	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:107431200G>T	ENST00000372216.4	-	22	1748	c.1648C>A	c.(1648-1650)Ctc>Atc	p.L550I	COL4A6_ENST00000394872.2_Missense_Mutation_p.L550I|COL4A6_ENST00000538570.1_Missense_Mutation_p.L549I|COL4A6_ENST00000545689.1_Missense_Mutation_p.L549I|COL4A6_ENST00000334504.7_Missense_Mutation_p.L549I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	550	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATTGTACTGAGAATTGGTTCC	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												2	Substitution - Missense(2)	large_intestine(2)											97	95	96					X																	107431200		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1648C>A	X.37:g.107431200G>T	ENSP00000361290:p.Leu550Ile		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L550I	ENST00000372216.4	37	c.1648	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719181	0.15372	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.05	-2.21	0.06973	.	1.174900	0.06505	N	0.736934	T	0.79930	0.4531	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.64381	-0.6421	10	0.18276	T	0.48	.	0.9649	0.01403	0.3593:0.3108:0.1628:0.1672	.	549;549;550;549	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	I	550;549;550;549;549;549	ENSP00000361290:L550I;ENSP00000334733:L549I;ENSP00000378340:L550I;ENSP00000443707:L549I;ENSP00000445236:L549I	ENSP00000334733:L549I	L	-	1	0	COL4A6	107317856	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-1.182000	0.03082	-0.487000	0.06735	0.513000	0.50165	CTC	COL4A6	-	NULL		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	G			107431200	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.000	T	T	107431200	G	T	107431200	3	4	131	1	0	0	0	0	1	0	0	0	3700	942	33	3	3523	3	COL4A6	23	107431200	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	100232	107431200	47839360	2041	22181										
GUCY2F	2986	genome.wustl.edu	37	chrX	108652353	108652353	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aacatccccgaatcatagaaGaaacccaataaagggttaat	6	9	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:108652353G>T	ENST00000218006.2	-	9	2127	c.1836C>A	c.(1834-1836)ttC>ttA	p.F612L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATCATAGAAGAAACCCAATA	0.438																																																	0													121	104	109					X																	108652353		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1836C>A	X.37:g.108652353G>T	ENSP00000218006:p.Phe612Leu		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.F612L	ENST00000218006.2	37	c.1836	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196516	0.22037	.	.	ENSG00000101890	ENST00000218006	D	0.81579	-1.51	4.1	2.33	0.28932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	N	0.04116	-0.275	0.58432	D	0.999996	B	0.10296	0.003	B	0.20184	0.028	T	0.47711	-0.9096	10	0.02654	T	1	.	7.6009	0.28075	0.2207:0.0:0.7793:0.0	.	612	P51841	GUC2F_HUMAN	L	612	ENSP00000218006:F612L	ENSP00000218006:F612L	F	-	3	2	GUCY2F	108539009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.596000	0.46205	0.513000	0.28278	0.600000	0.82982	TTC	GUCY2F	-	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,pfscan_Prot_kinase_cat_dom		0.438	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108652353	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108652353	G	T	108652353	3	4	131	1	0	0	0	0	1	0	0	0	6918	933	33	3	1534	3	GUCY2F	23	108652353	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1221153	108652353	46618207	2042	22182										
ACSL4	2182	genome.wustl.edu	37	chrX	108904801	108904801	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtcaataagtggacaattCttcagtgcagcttctacttt	7	8	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:108904801C>A	ENST00000469796.2	-	14	2175	c.1779G>T	c.(1777-1779)aaG>aaT	p.K593N	ACSL4_ENST00000348502.6_Missense_Mutation_p.K552N|ACSL4_ENST00000340800.2_Missense_Mutation_p.K593N			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	593					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GTGGACAATTCTTCAGTGCAG	0.333																																					Pancreas(188;358 2127 38547 41466 45492)												0													184	157	166					X																	108904801		2203	4299	6502	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1779G>T	X.37:g.108904801C>A	ENSP00000419171:p.Lys593Asn		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K593N	ENST00000469796.2	37	c.1779	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009598	0.75046	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10477	2.87;2.87;2.87	5.12	4.26	0.50523	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02075	-1.1218	10	0.22109	T	0.4	-13.8778	13.1633	0.59557	0.0:0.92:0.0:0.08	.	593	O60488	ACSL4_HUMAN	N	552;593;593	ENSP00000262835:K552N;ENSP00000419171:K593N;ENSP00000339787:K593N	ENSP00000339787:K593N	K	-	3	2	ACSL4	108791457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.631000	0.46502	1.062000	0.40625	0.506000	0.49869	AAG	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108904801	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108904801	C	A	108904801	3	1	131	1	0	0	0	0	1	0	0	0	179	912	32	3	368	3	ACSL4	23	108904801	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	252448	108904801	46365759	2043	22183										
ACSL4	2182	genome.wustl.edu	37	chrX	108906587	108906587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gatgttctgtccaccaattaCgatttcacctctggggtttg	9	10	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:108906587C>T	ENST00000469796.2	-	13	1954	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	ACSL4_ENST00000348502.6_Missense_Mutation_p.V479I|ACSL4_ENST00000340800.2_Missense_Mutation_p.V520I			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	520					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V520I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CCACCAATTACGATTTCACCT	0.338																																					Pancreas(188;358 2127 38547 41466 45492)												1	Substitution - Missense(1)	ovary(1)											219	227	225					X																	108906587		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1558G>A	X.37:g.108906587C>T	ENSP00000419171:p.Val520Ile		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V520I	ENST00000469796.2	37	c.1558	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204131	0.38905	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.44881	0.91;0.91;0.91	5.52	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.194977	0.40818	N	0.001018	T	0.37517	0.1006	M	0.74546	2.27	0.32172	N	0.581489	B	0.13145	0.007	B	0.12837	0.008	T	0.48502	-0.9030	10	0.42905	T	0.14	-16.4217	2.8619	0.05590	0.239:0.5335:0.0:0.2276	.	520	O60488	ACSL4_HUMAN	I	479;520;520	ENSP00000262835:V479I;ENSP00000419171:V520I;ENSP00000339787:V520I	ENSP00000339787:V520I	V	-	1	0	ACSL4	108793243	0.620000	0.27068	0.960000	0.40013	0.841000	0.47740	0.969000	0.29370	2.307000	0.77673	0.600000	0.82982	GTA	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.338	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108906587	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	0.760	T	T	108906587	C	T	108906587	3	4	131	1	0	0	0	0	1	0	0	0	179	536	19	2	593	2	ACSL4	23	108906587	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	1786	108906587	46363973	2044	22184										
RGAG1	57529	genome.wustl.edu	37	chrX	109696047	109696047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cctggagggatgtccatgtcGcccatgaagtccatgaccgc	12	13	0	2	rs377652967		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:109696047G>A	ENST00000465301.2	+	3	2448	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S	RGAG1_ENST00000540313.1_Silent_p.S734S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	734										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGTCGCCCATGAAGT	0.522													G|||	1	0.000264901	0	0.0014	3775	,	,		17351	0		0	False		,,,				2504	0																0								G		0,3835		0,0,1632,571	148	125	133		2202	-8.8	0	X		133	1,6727		0,1,2427,1872	no	coding-synonymous	RGAG1	NM_020769.2		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		734/1389	109696047	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2202G>A	X.37:g.109696047G>A			Q9P2M8	Silent	SNP	NULL	p.S734	ENST00000465301.2	37	c.2202	CCDS14552.1	X																																																																																			RGAG1	-	NULL		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	G	NM_020769		109696047	1	no_errors	ENST00000465301	ensembl	human	known	70_37	silent	SNP	0.000	A	A	109696047	G	A	109696047	2	1	131	1	0	0	0	0	0	0	0	1	13304	1074	38	2		2	RGAG1	23	109696047	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	789460	109696047	45574513	2045	22185										
LRCH2	57631	genome.wustl.edu	37	chrX	114391210	114391210	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttggcttgtttctcatcacaGaagttgaatgattaagaatc	8	6	2	4	rs201936828		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:114391210G>T	ENST00000317135.8	-	12	1514	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	LRCH2_ENST00000538422.1_Missense_Mutation_p.S495Y	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	495										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTCATCACAGAAGTTGAATG	0.244																																																	0													39	33	35					X																	114391210		1718	3867	5585	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1484C>A	X.37:g.114391210G>T	ENSP00000325091:p.Ser495Tyr		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.S495Y	ENST00000317135.8	37	c.1484	CCDS48155.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.55	3.154509	0.57259	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.84070	-1.8;5.53	4.89	3.07	0.35406	.	0.381123	0.27366	N	0.019689	D	0.83806	0.5334	L	0.38175	1.15	0.46701	D	0.999167	B;D	0.64830	0.0;0.994	B;D	0.65010	0.0;0.931	T	0.81904	-0.0719	10	0.59425	D	0.04	-1.7265	8.6699	0.34143	0.0:0.1619:0.6667:0.1713	.	495;495	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	Y	495	ENSP00000325091:S495Y;ENSP00000439366:S495Y	ENSP00000325091:S495Y	S	-	2	0	LRCH2	114297466	1.000000	0.71417	0.971000	0.41717	0.925000	0.55904	1.779000	0.38624	0.456000	0.26937	0.544000	0.68410	TCT	LRCH2	-	NULL		0.244	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114391210	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	missense	SNP	0.986	T	T	114391210	G	T	114391210	3	4	131	1	0	0	0	0	1	0	0	0	8956	942	33	3	853	3	LRCH2	23	114391210	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	4695163	114391210	40879350	2046	22186										
CXorf61	203413	genome.wustl.edu	37	chrX	115593002	115593002	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttttccaccatactgaggTttaccaatattcgcttctgc	6	11	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:115593002T>G	ENST00000371894.4	-	2	394	c.248A>C	c.(247-249)aAc>aCc	p.N83T		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		83						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CATACTGAGGTTTACCAATAT	0.433																																																	0													203	171	182					X																	115593002		2203	4300	6503	SO:0001583	missense	203413																														ENST00000371894.4:c.248A>C	X.37:g.115593002T>G	ENSP00000360961:p.Asn83Thr			Missense_Mutation	SNP	NULL	p.N83T	ENST00000371894.4	37	c.248	CCDS35372.1	X	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620551	0.28801	.	.	ENSG00000204019	ENST00000371894	.	.	.	5.2	4.04	0.47022	.	0.000000	0.45867	D	0.000339	T	0.40815	0.1132	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	D	0.64776	0.929	T	0.15549	-1.0433	9	0.59425	D	0.04	-8.9057	6.6951	0.23195	0.0:0.1056:0.0:0.8944	.	83	Q5H943	KKLC1_HUMAN	T	83	.	ENSP00000360961:N83T	N	-	2	0	CXorf61	115507030	0.084000	0.21492	0.024000	0.17045	0.030000	0.12068	0.697000	0.25556	0.803000	0.34113	0.434000	0.28630	AAC	CXorf61	-	NULL		0.433	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf61	HGNC	protein_coding	OTTHUMT00000057985.1	T			115593002	-1	no_errors	ENST00000371894	ensembl	human	known	70_37	missense	SNP	0.096	G	G	115593002	T	G	115593002	3	3	131	1	0	0	0	0	1	0	0	0	4121	1725	60	5	97	5	CXorf61	23	115593002	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1201792	115593002	39677558	2047	22187										
DOCK11	139818	genome.wustl.edu	37	chrX	117809942	117809942	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttcatggagcttacacaaAaattctggaagttatgcata	7	7	3	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:117809942A>C	ENST00000276202.7	+	47	5306	c.5243A>C	c.(5242-5244)aAa>aCa	p.K1748T	DOCK11_ENST00000276204.6_Missense_Mutation_p.K1748T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1748	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCTTACACAAAAATTCTGGAA	0.299																																																	0													40	39	39					X																	117809942		2202	4294	6496	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5243A>C	X.37:g.117809942A>C	ENSP00000276202:p.Lys1748Thr		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K1748T	ENST00000276202.7	37	c.5243	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325545	0.81580	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.22336	1.97;1.96	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52472	-0.8571	10	0.56958	D	0.05	-14.4897	13.81	0.63256	1.0:0.0:0.0:0.0	.	1748;1748	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1748	ENSP00000276204:K1748T;ENSP00000276202:K1748T	ENSP00000276202:K1748T	K	+	2	0	DOCK11	117693970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	1.857000	0.53885	0.486000	0.48141	AAA	DOCK11	-	NULL		0.299	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	A	NM_144658		117809942	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117809942	A	C	117809942	3	2	131	1	0	0	0	0	1	0	0	0	4696	14	1	5	5429	5	DOCK11	23	117809942	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2216940	117809942	37460618	2048	22188										
KIAA1210	57481	genome.wustl.edu	37	chrX	118227698	118227698	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatgctcttttcttcttcaGaaaccaatggaaggtttggc	8	8	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:118227698G>T	ENST00000402510.2	-	10	1414	c.1415C>A	c.(1414-1416)tCt>tAt	p.S472Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	472										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTTCTTCAGAAACCAATGG	0.443																																																	0													128	104	112					X																	118227698		1866	4097	5963	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1415C>A	X.37:g.118227698G>T	ENSP00000384670:p.Ser472Tyr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.S472Y	ENST00000402510.2	37	c.1415	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007406	0.35415	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.12879	2.64	3.93	2.07	0.26955	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	P	0.53954	0.738	T	0.18085	-1.0348	9	0.44086	T	0.13	.	5.2328	0.15432	0.126:0.2066:0.6674:0.0	.	472	Q9ULL0	K1210_HUMAN	Y	472;272	ENSP00000384670:S472Y	ENSP00000396164:S272Y	S	-	2	0	RP13-347D8.5;RP13-347D8.6	118111726	0.329000	0.24696	0.002000	0.10522	0.048000	0.14542	1.107000	0.31110	0.241000	0.21283	0.410000	0.27636	TCT	KIAA1210	-	NULL		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	G	NM_020721		118227698	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.025	T	T	118227698	G	T	118227698	3	4	131	1	0	0	0	0	1	0	0	0	8234	942	33	3	3734	3	KIAA1210	23	118227698	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	417756	118227698	37042862	2049	22189										
UPF3B	65109	genome.wustl.edu	37	chrX	118975126	118975126	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atatctttcctttttcgtttCtcttcttctttccatttcct	1	12	4	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:118975126C>A	ENST00000276201.2	-	7	789	c.720G>T	c.(718-720)gaG>gaT	p.E240D	UPF3B_ENST00000345865.2_Missense_Mutation_p.E240D|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	240	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						tttttcgtttctcttcttctt	0.338																																																	0													273	211	232					X																	118975126		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.720G>T	X.37:g.118975126C>A	ENSP00000276201:p.Glu240Asp		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E240D	ENST00000276201.2	37	c.720	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	9.571	1.120917	0.20877	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.79845	-1.26;-1.31	4.64	2.8	0.32819	.	0.204155	0.50627	D	0.000115	T	0.74711	0.3752	L	0.45352	1.415	0.40101	D	0.976377	B;D	0.58268	0.27;0.982	B;P	0.48552	0.059;0.581	T	0.70510	-0.4852	10	0.42905	T	0.14	.	6.3003	0.21109	0.0:0.65:0.0:0.35	.	240;240	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	D	240	ENSP00000276201:E240D;ENSP00000245418:E240D	ENSP00000276201:E240D	E	-	3	2	UPF3B	118859154	0.924000	0.31332	0.998000	0.56505	0.886000	0.51366	-0.082000	0.11304	0.315000	0.23110	0.538000	0.68166	GAG	UPF3B	-	NULL		0.338	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118975126	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118975126	C	A	118975126	3	1	131	1	0	0	0	0	1	0	0	0	17037	912	32	3	751	3	UPF3B	23	118975126	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	747428	118975126	36295434	2050	22190										
C1GALT1C1	29071	genome.wustl.edu	37	chrX	119760958	119760958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aatgtgtcctagcatagtgaTcaaagcacagaaaatgcttc	8	8	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:119760958T>C	ENST00000304661.5	-	2	302	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.I22V	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	22					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AGCATAGTGATCAAAGCACAG	0.368																																																	0													134	117	123					X																	119760958		2202	4299	6501	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.64A>G	X.37:g.119760958T>C	ENSP00000304364:p.Ile22Val		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.I22V	ENST00000304661.5	37	c.64	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	T	7.754	0.703899	0.15172	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.40756	1.02;1.02	5.52	4.39	0.52855	.	0.297467	0.37761	N	0.001952	T	0.17789	0.0427	N	0.04880	-0.145	0.33487	D	0.588251	B	0.02656	0.0	B	0.04013	0.001	T	0.17592	-1.0364	9	.	.	.	-9.2839	5.2194	0.15360	0.0:0.2146:0.0:0.7854	.	22	Q96EU7	C1GLC_HUMAN	V	22	ENSP00000304364:I22V;ENSP00000360363:I22V	.	I	-	1	0	C1GALT1C1	119644986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.835000	0.53391	0.441000	0.28932	ATC	C1GALT1C1	-	NULL		0.368	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	T	NM_152692		119760958	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119760958	T	C	119760958	3	2	131	1	0	0	0	0	1	0	0	0	1958	1435	50	5	896	5	C1GALT1C1	23	119760958	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	785832	119760958	35509602	2051	22191										
GLUD2	2747	genome.wustl.edu	37	chrX	120182121	120182121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcaatcccaagaactataccGaaaatgaattggaaaagatc	6	8	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:120182121G>A	ENST00000328078.1	+	1	660	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	195					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GAACTATACCGAAAATGAATT	0.458																																																	0													122	96	105					X																	120182121		2203	4300	6503	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.583G>A	X.37:g.120182121G>A	ENSP00000327589:p.Glu195Lys		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.E195K	ENST00000328078.1	37	c.583	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348941	0.11126	.	.	ENSG00000182890	ENST00000328078	D	0.96491	-4.03	1.35	0.348	0.16026	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.146062	0.64402	D	0.000012	D	0.89969	0.6869	L	0.31420	0.93	0.23685	N	0.997112	B	0.21821	0.061	B	0.19946	0.027	T	0.79252	-0.1880	10	0.26408	T	0.33	-3.7222	5.0223	0.14367	0.0:0.3779:0.6221:0.0	.	195	P49448	DHE4_HUMAN	K	195	ENSP00000327589:E195K	ENSP00000327589:E195K	E	+	1	0	GLUD2	120009802	0.996000	0.38824	0.003000	0.11579	0.196000	0.23810	3.414000	0.52693	0.061000	0.16311	0.472000	0.43445	GAA	GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_dimer_dom		0.458	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	G	NM_012084		120182121	1	no_errors	ENST00000328078	ensembl	human	known	70_37	missense	SNP	0.986	A	A	120182121	G	A	120182121	3	1	131	1	0	0	0	0	1	0	0	0	6496	1059	37	1	585	1	GLUD2	23	120182121	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	421163	120182121	35088439	2052	22192										
XIAP	331	genome.wustl.edu	37	chrX	123025119	123025119	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgttagaacagaagggacaaGaatatataaacaatattcat	7	4	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123025119G>T	ENST00000371199.3	+	4	1308	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	XIAP_ENST00000355640.3_Nonsense_Mutation_p.E337*|XIAP_ENST00000434753.3_Nonsense_Mutation_p.E337*|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	337					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAAGGGACAAGAATATATAAA	0.254									X-linked Lymphoproliferative syndrome																																								0													32	33	33					X																	123025119		2173	4235	6408	SO:0001587	stop_gained	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1009G>T	X.37:g.123025119G>T	ENSP00000360242:p.Glu337*		D3DTF2|Q9NQ14	Nonsense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E337*	ENST00000371199.3	37	c.1009	CCDS14606.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.232573	0.97399	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	.	.	.	4.88	4.88	0.63580	.	0.465144	0.21271	N	0.077308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-31.3214	12.905	0.58147	0.0:0.1593:0.8407:0.0	.	.	.	.	X	337	.	ENSP00000347858:E337X	E	+	1	0	XIAP	122852800	1.000000	0.71417	0.958000	0.39756	0.994000	0.84299	4.503000	0.60407	2.148000	0.66965	0.600000	0.82982	GAA	XIAP	-	NULL		0.254	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XIAP	HGNC	protein_coding	OTTHUMT00000058165.5	G	NM_001167		123025119	1	no_errors	ENST00000355640	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	123025119	G	T	123025119	4	4	131	1	0	0	0	0	0	1	0	0	17459	943	33	3	1019	3	XIAP	23	123025119	Nonsense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2842998	123025119	32245441	2053	22193										
STAG2	10735	genome.wustl.edu	37	chrX	123229269	123229269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	acagaactgaagcctgatttCtttgatccagcttcaattat	6	9	2	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123229269C>A	ENST00000371160.1	+	33	3932	c.3642C>A	c.(3640-3642)ttC>ttA	p.F1214L	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.F1214L|STAG2_ENST00000371145.3_Missense_Mutation_p.F1251L|STAG2_ENST00000218089.9_Missense_Mutation_p.F1251L|STAG2_ENST00000354548.5_Missense_Mutation_p.F1145L|STAG2_ENST00000371157.3_Missense_Mutation_p.F1214L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1214					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCTGATTTCTTTGATCCAG	0.363																																																	0													122	108	113					X																	123229269		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3642C>A	X.37:g.123229269C>A	ENSP00000360202:p.Phe1214Leu		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.F1251L	ENST00000371160.1	37	c.3753	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730446	0.69074	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.52526	1.44;0.72;0.66;0.66;1.44;0.66	4.94	4.94	0.65067	.	0.064498	0.64402	D	0.000004	T	0.42944	0.1225	L	0.38175	1.15	0.51767	D	0.999931	B;B	0.26512	0.008;0.151	B;B	0.29524	0.031;0.103	T	0.36237	-0.9756	10	0.48119	T	0.1	-2.364	17.3091	0.87204	0.0:1.0:0.0:0.0	.	1251;1214	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	1251;1145;1214;1214;1251;1214	ENSP00000218089:F1251L;ENSP00000346555:F1145L;ENSP00000360202:F1214L;ENSP00000360199:F1214L;ENSP00000360187:F1251L;ENSP00000360186:F1214L	ENSP00000218089:F1251L	F	+	3	2	STAG2	123056950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.721000	0.61951	2.009000	0.58944	0.513000	0.50165	TTC	STAG2	-	NULL		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	C	NM_006603		123229269	1	no_errors	ENST00000218089	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123229269	C	A	123229269	3	1	131	1	0	0	0	0	1	0	0	0	15273	912	32	3	3879	3	STAG2	23	123229269	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	204150	123229269	32041291	2054	22194										
ODZ1	10178	genome.wustl.edu	37	chrX	123556133	123556133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggtcatacctgaaaaacagTcacagtttggatcaattttg	8	7	3	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123556133T>G	ENST00000371130.3	-	23	4502	c.4439A>C	c.(4438-4440)gAc>gCc	p.D1480A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1487A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1480					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGAAAAACAGTCACAGTTTGG	0.438																																																	0													124	94	104					X																	123556133		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4439A>C	X.37:g.123556133T>G	ENSP00000360171:p.Asp1480Ala		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.D1487A	ENST00000371130.3	37	c.4460	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329690	0.81690	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.03	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.054991	0.64402	D	0.000001	D	0.82939	0.5146	L	0.39633	1.23	0.80722	D	1	D;P;B	0.58268	0.982;0.842;0.394	P;B;B	0.47075	0.536;0.257;0.052	D	0.84072	0.0380	10	0.51188	T	0.08	.	14.373	0.66854	0.0:0.0:0.0:1.0	.	1486;1487;1480	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	1480;1487	ENSP00000360171:D1480A;ENSP00000403954:D1487A	ENSP00000360171:D1480A	D	-	2	0	ODZ1	123383814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.948000	0.87774	1.773000	0.52216	0.481000	0.45027	GAC	TENM1	-	NULL		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	T	NM_014253		123556133	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123556133	T	G	123556133	3	3	131	1	0	0	0	0	1	0	0	0	10858	1667	58	5	3774	5	ODZ1	23	123556133	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	326864	123556133	31714427	2055	22195										
ODZ1	10178	genome.wustl.edu	37	chrX	123787498	123787498	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcagagagtccttggctaaaGaaatattgaacttcagatat	9	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123787498G>T	ENST00000371130.3	-	7	1367	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	TENM1_ENST00000422452.2_Missense_Mutation_p.S435Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	435					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTGGCTAAAGAAATATTGAA	0.388																																																	0													139	133	135					X																	123787498		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1304C>A	X.37:g.123787498G>T	ENSP00000360171:p.Ser435Tyr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S435Y	ENST00000371130.3	37	c.1304	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483602	0.84854	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33438	1.41;1.41	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.991;0.997;0.998	T	0.64283	-0.6444	10	0.87932	D	0	.	18.6434	0.91402	0.0:0.0:1.0:0.0	.	434;435;435	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	435	ENSP00000360171:S435Y;ENSP00000403954:S435Y	ENSP00000360171:S435Y	S	-	2	0	ODZ1	123615179	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.346000	0.79739	0.523000	0.50628	TCT	TENM1	-	NULL		0.388	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123787498	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123787498	G	T	123787498	3	4	131	1	0	0	0	0	1	0	0	0	10858	942	33	3	6998	3	ODZ1	23	123787498	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	231365	123787498	31483062	2056	22196										
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298619	125298619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tgtagcagtgggtgtagagcGcattggggaactctcccatg	15	8	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:125298619G>A	ENST00000360028.2	-	1	1315	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A430V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602																																																	6	Substitution - Missense(6)	lung(6)											118	118	118					X																	125298619		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1289C>T	X.37:g.125298619G>A	ENSP00000353128:p.Ala430Val		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A430V	ENST00000360028.2	37	c.1289	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852949	0.71719	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.41758	0.99;0.99	3.93	3.93	0.45458	.	0.000000	0.36134	N	0.002770	T	0.60327	0.2260	M	0.73598	2.24	0.48632	D	0.99968	D	0.89917	1.0	D	0.63793	0.918	T	0.65520	-0.6148	10	0.66056	D	0.02	.	12.9304	0.58284	0.0:0.0:1.0:0.0	.	430	Q5VW00	DC122_HUMAN	V	430	ENSP00000441489:A430V;ENSP00000353128:A430V	ENSP00000353128:A430V	A	-	2	0	DCAF12L2	125126300	1.000000	0.71417	0.842000	0.33263	0.680000	0.39746	6.782000	0.75073	2.209000	0.71365	0.600000	0.82982	GCG	DCAF12L2	-	NULL		0.602	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125298619	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.996	A	A	125298619	G	A	125298619	3	1	131	1	0	0	0	0	1	0	0	0	4270	1087	38	2	106	2	DCAF12L2	23	125298619	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1511121	125298619	29971941	2057	22197										
OCRL	4952	genome.wustl.edu	37	chrX	128710357	128710357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctctgtaaccatcctgaactCgggagaagataagattgaag	10	8	1	5			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:128710357C>T	ENST00000371113.4	+	18	2108	c.1943C>T	c.(1942-1944)tCg>tTg	p.S648L	OCRL_ENST00000357121.5_Missense_Mutation_p.S648L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	648	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATCCTGAACTCGGGAGAAGAT	0.403																																																	0													156	130	139					X																	128710357		2203	4300	6503	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1943C>T	X.37:g.128710357C>T	ENSP00000360154:p.Ser648Leu		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S648L	ENST00000371113.4	37	c.1943	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269305	0.80469	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.18810	2.19;2.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.9	T	0.33599	-0.9862	10	0.56958	D	0.05	.	18.5888	0.91200	0.0:1.0:0.0:0.0	.	648;648	Q01968-2;Q01968	.;OCRL_HUMAN	L	648	ENSP00000360154:S648L;ENSP00000349635:S648L	ENSP00000349635:S648L	S	+	2	0	OCRL	128538038	1.000000	0.71417	0.993000	0.49108	0.827000	0.46813	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	TCG	OCRL	-	NULL		0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	C	NM_000276		128710357	1	no_errors	ENST00000371113	ensembl	human	known	70_37	missense	SNP	0.999	T	T	128710357	C	T	128710357	3	4	131	1	0	0	0	0	1	0	0	0	10847	893	31	1	2013	1	OCRL	23	128710357	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	3411738	128710357	26560203	2058	22198										
ELF4	2000	genome.wustl.edu	37	chrX	129200915	129200915	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtctggttgcccagaaggctCggattgtgggaacccctgga	15	10	1	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:129200915C>T	ENST00000308167.5	-	9	2152	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	ELF4_ENST00000335997.7_Silent_p.P591P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGAAGGCTCGGATTGTGGG	0.607			T	ERG	AML																																			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													96	101	99					X																	129200915		2203	4300	6503	SO:0001819	synonymous_variant	2000			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1773G>A	X.37:g.129200915C>T				Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.P591	ENST00000308167.5	37	c.1773	CCDS14617.1	X																																																																																			ELF4	-	NULL		0.607	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	C	NM_001421		129200915	-1	no_errors	ENST00000308167	ensembl	human	known	70_37	silent	SNP	0.652	T	T	129200915	C	T	129200915	2	4	131	1	0	0	0	0	0	0	0	1	5068	871	31	1		1	ELF4	23	129200915	Silent	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	490558	129200915	26069645	2059	22199										
MST4	51765	genome.wustl.edu	37	chrX	131202297	131202297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctaccatgctaaaggaaattTtaaaaggtctggactatctg	8	7	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:131202297T>G	ENST00000354719.6	+	5	601	c.385T>G	c.(385-387)Tta>Gta	p.L129V	MST4_ENST00000394335.2_Missense_Mutation_p.L52V|MST4_ENST00000496850.1_Missense_Mutation_p.L129V|MST4_ENST00000481105.1_Missense_Mutation_p.L151V|MST4_ENST00000394334.2_Missense_Mutation_p.L129V														p.L129V(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAAGGAAATTTTAAAAGGTCT	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											71	71	71					X																	131202297		2203	4299	6502	SO:0001583	missense	51765																														ENST00000354719.6:c.385T>G	X.37:g.131202297T>G	ENSP00000346755:p.Leu129Val			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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L129V	ENST00000354719.6	37	c.385		X	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089931	0.55968	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.74	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000095	T	0.40546	0.1121	L	0.35542	1.07	0.58432	D	0.999999	D;D;P;D;D	0.76494	0.999;0.993;0.951;0.991;0.998	D;D;P;D;D	0.70016	0.967;0.937;0.88;0.94;0.934	T	0.24728	-1.0152	10	0.87932	D	0	.	8.689	0.34256	0.0:0.2154:0.0:0.7846	.	151;129;129;52;129	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	V	129;151;129;52;129	ENSP00000377867:L129V;ENSP00000418753:L151V;ENSP00000346755:L129V;ENSP00000377868:L52V;ENSP00000419702:L129V	ENSP00000346755:L129V	L	+	1	2	AL109749.1	131029978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.163000	0.31798	0.798000	0.33994	0.486000	0.48141	TTA	MST4	-	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		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	MST4	Uniprot_genename	protein_coding	OTTHUMT00000058308.2	T			131202297	1	no_errors	ENST00000394334	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131202297	T	G	131202297	3	3	131	1	0	0	0	0	1	0	0	0	9915	1838	64	5	399	5	MST4	23	131202297	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	2001382	131202297	24068263	2060	22200										
USP26	83844	genome.wustl.edu	37	chrX	132161383	132161383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgtggcatattttctctggaAataattcaaaaaatagtttt	6	5	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:132161383A>G	ENST00000511190.1	-	6	1335	c.866T>C	c.(865-867)tTt>tCt	p.F289S	USP26_ENST00000370832.1_Missense_Mutation_p.F289S|USP26_ENST00000406273.1_Missense_Mutation_p.F289S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	289					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTCTCTGGAAATAATTCAAA	0.373																																					NSCLC(104;342 1621 36940 47097 52632)												0													38	38	38					X																	132161383		2201	4295	6496	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.866T>C	X.37:g.132161383A>G	ENSP00000423390:p.Phe289Ser		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F289S	ENST00000511190.1	37	c.866	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	A	9.851	1.193632	0.22037	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.54071	0.59;0.59;0.59	4.01	0.168	0.15012	.	1.252190	0.06188	N	0.680859	T	0.35799	0.0944	N	0.22421	0.69	0.09310	N	1	B	0.31009	0.303	B	0.33620	0.167	T	0.26395	-1.0104	10	0.31617	T	0.26	-0.4821	2.9256	0.05783	0.4525:0.1231:0.0:0.4244	.	289	Q9BXU7	UBP26_HUMAN	S	289	ENSP00000359869:F289S;ENSP00000423390:F289S;ENSP00000384360:F289S	ENSP00000359869:F289S	F	-	2	0	USP26	131989049	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.374000	0.07484	-0.074000	0.12820	-0.657000	0.03884	TTT	USP26	-	NULL		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	A	NM_031907		132161383	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.001	G	G	132161383	A	G	132161383	3	3	131	1	0	0	0	0	1	0	0	0	17088	14	1	5	1878	5	USP26	23	132161383	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	959086	132161383	23109177	2061	22201										
CCDC160	347475	genome.wustl.edu	37	chrX	133379429	133379429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gacggatgcttcaaaaagtgActatgaacttcaagctttaa	8	7	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:133379429A>G	ENST00000517294.1	+	3	982	c.599A>G	c.(598-600)gAc>gGc	p.D200G	CCDC160_ENST00000370809.4_Missense_Mutation_p.D200G			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	200										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						TCAAAAAGTGACTATGAACTT	0.333																																																	0													27	22	23					X																	133379429		1804	4049	5853	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.599A>G	X.37:g.133379429A>G	ENSP00000427951:p.Asp200Gly			Missense_Mutation	SNP	NULL	p.D200G	ENST00000517294.1	37	c.599	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	A	9.050	0.991966	0.18966	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.91011	-2.77;-2.77	4.77	4.77	0.60923	.	0.000000	0.50627	D	0.000120	D	0.90099	0.6907	L	0.34521	1.04	0.09310	N	1	D	0.61080	0.989	P	0.61132	0.884	T	0.82806	-0.0275	10	0.54805	T	0.06	-13.974	8.6417	0.33981	0.8269:0.0:0.0:0.1731	.	200	A6NGH7	CC160_HUMAN	G	200	ENSP00000427951:D200G;ENSP00000359845:D200G	ENSP00000359845:D200G	D	+	2	0	CCDC160	133207095	0.993000	0.37304	0.012000	0.15200	0.004000	0.04260	3.122000	0.50446	1.680000	0.50976	0.417000	0.27973	GAC	CCDC160	-	NULL		0.333	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	A	NM_001101357		133379429	1	no_errors	ENST00000370809	ensembl	human	known	70_37	missense	SNP	0.008	G	G	133379429	A	G	133379429	3	3	131	1	0	0	0	0	1	0	0	0	2797	275	10	5	601	5	CCDC160	23	133379429	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	1218046	133379429	21891131	2062	22202										
ZNF449	203523	genome.wustl.edu	37	chrX	134493904	134493904	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	attacaggattctaaagaaaTgaaacaattacttgattcca	5	6	1	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:134493904T>G	ENST00000339249.4	+	4	787	c.647T>G	c.(646-648)aTg>aGg	p.M216R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	216					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAAAGAAATGAAACAATTA	0.323																																																	0													85	82	83					X																	134493904		2203	4299	6502	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.647T>G	X.37:g.134493904T>G	ENSP00000339585:p.Met216Arg		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.M216R	ENST00000339249.4	37	c.647	CCDS14649.1	X	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533440	0.27387	.	.	ENSG00000173275	ENST00000339249	T	0.04970	3.52	4.67	3.42	0.39159	.	0.244297	0.28952	N	0.013610	T	0.03739	0.0106	N	0.19112	0.55	0.80722	D	1	B	0.19583	0.037	B	0.17722	0.019	T	0.41106	-0.9527	10	0.11794	T	0.64	.	8.0505	0.30575	0.1834:0.0:0.0:0.8166	.	216	Q6P9G9	ZN449_HUMAN	R	216	ENSP00000339585:M216R	ENSP00000339585:M216R	M	+	2	0	ZNF449	134321570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.472000	0.35376	1.868000	0.54150	0.425000	0.28330	ATG	ZNF449	-	NULL		0.323	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF449	HGNC	protein_coding	OTTHUMT00000058411.1	T	NM_152695		134493904	1	no_errors	ENST00000339249	ensembl	human	known	70_37	missense	SNP	0.983	G	G	134493904	T	G	134493904	3	3	131	1	0	0	0	0	1	0	0	0	17950	1464	51	5	657	5	ZNF449	23	134493904	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	1114475	134493904	20776656	2063	22203										
SAGE1	55511	genome.wustl.edu	37	chrX	134991912	134991912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttatttgacagtagctggtaTtccggccatgagtaccaggg	12	8	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:134991912T>C	ENST00000370709.3	+	13	1697	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	SAGE1_ENST00000324447.3_Missense_Mutation_p.I566T|SAGE1_ENST00000535938.1_Missense_Mutation_p.I566T|SAGE1_ENST00000537770.1_Missense_Mutation_p.I190T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	566						nucleus (GO:0005634)				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)					GTAGCTGGTATTCCGGCCATG	0.413																																																	0													151	129	137					X																	134991912		2203	4300	6503	SO:0001583	missense	55511			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.1697T>C	X.37:g.134991912T>C	ENSP00000359743:p.Ile566Thr		Q5JNW0	Missense_Mutation	SNP	NULL	p.I566T	ENST00000370709.3	37	c.1697	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115152	0.06881	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38887	1.48;1.48;1.11;1.48	0.959	-0.427	0.12310	.	0.000000	0.85682	U	0.000000	T	0.27241	0.0668	N	0.24115	0.695	0.09310	N	1	B;P	0.46395	0.12;0.877	B;P	0.47470	0.219;0.548	T	0.12785	-1.0534	10	0.41790	T	0.15	.	3.0204	0.06073	0.0:0.3161:0.0:0.6839	.	190;566	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	T	566;566;190;566	ENSP00000323191:I566T;ENSP00000445959:I566T;ENSP00000438276:I190T;ENSP00000359743:I566T	ENSP00000323191:I566T	I	+	2	0	SAGE1	134819578	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	1.459000	0.35234	-0.191000	0.10448	-0.892000	0.02923	ATT	SAGE1	-	NULL		0.413	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	T	NM_018666		134991912	1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.000	C	C	134991912	T	C	134991912	3	2	131	1	0	0	0	0	1	0	0	0	13839	1493	52	5	1747	5	SAGE1	23	134991912	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	498008	134991912	20278648	2064	22204										
SAGE1	55511	genome.wustl.edu	37	chrX	134994537	134994537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aggatctatgaaagtcaagaGacaatttgttgaatttacca	8	5	2	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:134994537G>T	ENST00000370709.3	+	18	2579	c.2579G>T	c.(2578-2580)aGa>aTa	p.R860I	SAGE1_ENST00000324447.3_Missense_Mutation_p.R860I|SAGE1_ENST00000535938.1_Missense_Mutation_p.R860I|SAGE1_ENST00000537770.1_Missense_Mutation_p.R484I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	860						nucleus (GO:0005634)				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)					AAAGTCAAGAGACAATTTGTT	0.343																																																	0													123	119	120					X																	134994537		2202	4300	6502	SO:0001583	missense	55511			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.2579G>T	X.37:g.134994537G>T	ENSP00000359743:p.Arg860Ile		Q5JNW0	Missense_Mutation	SNP	NULL	p.R860I	ENST00000370709.3	37	c.2579	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321662	0.41096	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.32272	1.46;1.46;1.5;1.46	2.31	-0.704	0.11256	.	0.363715	0.30302	U	0.009940	T	0.17959	0.0431	N	0.22421	0.69	0.37222	D	0.905281	D;B	0.55605	0.972;0.444	P;B	0.46110	0.504;0.098	T	0.15263	-1.0443	10	0.52906	T	0.07	.	3.0792	0.06256	0.6534:0.0:0.1353:0.2112	.	484;860	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	I	860;860;484;860	ENSP00000323191:R860I;ENSP00000445959:R860I;ENSP00000438276:R484I;ENSP00000359743:R860I	ENSP00000323191:R860I	R	+	2	0	SAGE1	134822203	0.009000	0.17119	0.487000	0.27428	0.551000	0.35334	0.138000	0.16016	-0.392000	0.07751	0.179000	0.17066	AGA	SAGE1	-	NULL		0.343	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	G	NM_018666		134994537	1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.711	T	T	134994537	G	T	134994537	3	4	131	1	0	0	0	0	1	0	0	0	13839	942	33	3	2649	3	SAGE1	23	134994537	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	2625	134994537	20276023	2065	22205										
MAP7D3	79649	genome.wustl.edu	37	chrX	135323432	135323432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gataaagaatggctgtaaatTtttcctatttaaaataaaag	6	3	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135323432T>G	ENST00000316077.9	-	5	642	c.422A>C	c.(421-423)aAa>aCa	p.K141T	MAP7D3_ENST00000370663.5_Missense_Mutation_p.K123T|MAP7D3_ENST00000370661.1_Missense_Mutation_p.K141T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	141					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTAAATTTTTCCTATTT	0.318																																																	0													38	33	35					X																	135323432		1799	4064	5863	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.422A>C	X.37:g.135323432T>G	ENSP00000318086:p.Lys141Thr		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.K123T	ENST00000316077.9	37	c.368	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622473	0.46840	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.15	-3.15	0.05233	.	.	.	.	.	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.76494	0.998;0.995;0.996;0.999	P;P;P;D	0.65233	0.859;0.881;0.859;0.933	T	0.11060	-1.0603	9	0.52906	T	0.07	-10.1528	12.2182	0.54418	0.0:0.5668:0.0:0.4332	.	123;141;141;141	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	T	141;141;123;141	ENSP00000359695:K141T;ENSP00000318086:K141T;ENSP00000359697:K123T;ENSP00000359694:K141T	ENSP00000318086:K141T	K	-	2	0	MAP7D3	135151098	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.908000	0.04063	-1.178000	0.02741	0.437000	0.28790	AAA	MAP7D3	-	NULL		0.318	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	T			135323432	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.000	G	G	135323432	T	G	135323432	3	3	131	1	0	0	0	0	1	0	0	0	9292	1841	64	5	2264	5	MAP7D3	23	135323432	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	328895	135323432	19947128	2066	22206										
GPR112	139378	genome.wustl.edu	37	chrX	135405383	135405383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atgagagcagcgaggttaaaAgcatgatgcgtagctttcct	12	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135405383A>C	ENST00000394143.1	+	5	808	c.517A>C	c.(517-519)Agc>Cgc	p.S173R	GPR112_ENST00000370652.1_Missense_Mutation_p.S173R|GPR112_ENST00000287534.4_Missense_Mutation_p.S110R|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	173					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CGAGGTTAAAAGCATGATGCG	0.443																																																	0													178	155	163					X																	135405383		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.517A>C	X.37:g.135405383A>C	ENSP00000377699:p.Ser173Arg		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S173R	ENST00000394143.1	37	c.517	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	9.593	1.126543	0.20959	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63913	-0.07;-0.07;-0.07	5.62	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.47911	0.1471	L	0.29908	0.895	0.09310	N	1	B	0.26547	0.152	B	0.29524	0.103	T	0.41910	-0.9482	9	0.45353	T	0.12	.	5.0258	0.14383	0.7211:0.1775:0.1014:0.0	.	173	Q8IZF6	GP112_HUMAN	R	173;173;110	ENSP00000377699:S173R;ENSP00000359686:S173R;ENSP00000287534:S110R	ENSP00000287534:S110R	S	+	1	0	GPR112	135233049	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.099000	0.15210	0.700000	0.31782	0.417000	0.27973	AGC	GPR112	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135405383	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.000	C	C	135405383	A	C	135405383	3	2	131	1	0	0	0	0	1	0	0	0	6648	72	3	5	523	5	GPR112	23	135405383	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	81951	135405383	19865177	2067	22207										
GPR112	139378	genome.wustl.edu	37	chrX	135435503	135435503	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ttgtcttgtacagttgaattCtatatttcagaacagtgaat	7	5	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135435503C>A	ENST00000394143.1	+	8	7121	c.6830C>A	c.(6829-6831)tCt>tAt	p.S2277Y	GPR112_ENST00000370652.1_Missense_Mutation_p.S2277Y|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Missense_Mutation_p.S2072Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S2072Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2277					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGTTGAATTCTATATTTCAG	0.363																																																	0													147	135	139					X																	135435503		2202	4299	6501	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6830C>A	X.37:g.135435503C>A	ENSP00000377699:p.Ser2277Tyr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S2277Y	ENST00000394143.1	37	c.6830	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068697	0.20147	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.29397	1.61;1.61;1.57;1.57	5.35	-0.385	0.12470	.	.	.	.	.	T	0.16300	0.0392	N	0.14661	0.345	0.36228	D	0.852463	P;P	0.50066	0.931;0.886	P;B	0.47430	0.547;0.345	T	0.34204	-0.9838	9	0.28530	T	0.3	.	1.0191	0.01514	0.1536:0.3854:0.1485:0.3125	.	2072;2277	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Y	2277;2277;2072;2072	ENSP00000377699:S2277Y;ENSP00000359686:S2277Y;ENSP00000416526:S2072Y;ENSP00000377697:S2072Y	ENSP00000359686:S2277Y	S	+	2	0	GPR112	135263169	0.474000	0.25886	0.940000	0.37924	0.352000	0.29268	-0.461000	0.06712	0.089000	0.17243	0.594000	0.82650	TCT	GPR112	-	NULL		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135435503	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.653	A	A	135435503	C	A	135435503	3	1	131	1	0	0	0	0	1	0	0	0	6648	913	32	3	6848	3	GPR112	23	135435503	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	30120	135435503	19835057	2068	22208										
CD40LG	959	genome.wustl.edu	37	chrX	135741263	135741263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggtaaccctggaaaatgggAaacagctgaccgttaaaaga	11	7	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135741263A>G	ENST00000370629.2	+	5	531	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	CD40LG_ENST00000370628.2_Missense_Mutation_p.K138E	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	159					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GGAAAATGGGAAACAGCTGAC	0.438									Immune Deficiency with Hyper-IgM																																								0													231	233	233					X																	135741263		2203	4300	6503	SO:0001583	missense	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.475A>G	X.37:g.135741263A>G	ENSP00000359663:p.Lys159Glu			Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.K159E	ENST00000370629.2	37	c.475	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014574	0.75161	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.97850	-4.57;-4.57	5.56	5.56	0.83823	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.298622	0.36444	N	0.002587	D	0.96197	0.8760	L	0.39898	1.24	0.37991	D	0.933901	P;P	0.42248	0.774;0.51	P;B	0.44422	0.449;0.321	D	0.97807	1.0248	10	0.87932	D	0	-13.1856	14.401	0.67047	1.0:0.0:0.0:0.0	.	138;159	Q3L8U2;P29965	.;CD40L_HUMAN	E	159;138	ENSP00000359663:K159E;ENSP00000359662:K138E	ENSP00000359662:K138E	K	+	1	0	CD40LG	135568929	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.386000	0.73186	1.865000	0.54081	0.486000	0.48141	AAA	CD40LG	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF		0.438	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	A	NM_000074		135741263	1	no_errors	ENST00000370629	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135741263	A	G	135741263	3	3	131	1	0	0	0	0	1	0	0	0	3021	247	9	5	493	5	CD40LG	23	135741263	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	305760	135741263	19529297	2069	22209										
MAGEC1	9947	genome.wustl.edu	37	chrX	140993495	140993495	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tctccagaattctcagagttCtcctgaggggaaggactccc	10	12	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:140993495C>A	ENST00000285879.4	+	4	591	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	102										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGAGTTCTCCTGAGGGG	0.567										HNSCC(15;0.026)																																							0													78	78	78					X																	140993495		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.305C>A	X.37:g.140993495C>A	ENSP00000285879:p.Ser102Tyr		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S102Y	ENST00000285879.4	37	c.305	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	0.055	-1.238645	0.01493	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.80722	D	1	P	0.50156	0.932	B	0.34991	0.193	T	0.66221	-0.5978	7	0.59425	D	0.04	.	.	.	.	.	102	O60732	MAGC1_HUMAN	Y	102	ENSP00000285879:S102Y	ENSP00000285879:S102Y	S	+	2	0	MAGEC1	140821161	0.002000	0.14202	0.014000	0.15608	0.014000	0.08584	1.216000	0.32443	0.108000	0.17862	0.110000	0.15639	TCT	MAGEC1	-	NULL		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140993495	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.961	A	A	140993495	C	A	140993495	3	1	131	1	0	0	0	0	1	0	0	0	9203	913	32	3	311	3	MAGEC1	23	140993495	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5252232	140993495	14277065	2070	22210										
MAGEC1	9947	genome.wustl.edu	37	chrX	140994167	140994167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagagttcccctgagagaaCtcacagtacttttgagggtt	10	10	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:140994167C>T	ENST00000285879.4	+	4	1263	c.977C>T	c.(976-978)aCt>aTt	p.T326I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	326										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAGAACTCACAGTACT	0.468										HNSCC(15;0.026)																																							0													116	116	116					X																	140994167		2199	4287	6486	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.977C>T	X.37:g.140994167C>T	ENSP00000285879:p.Thr326Ile		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T326I	ENST00000285879.4	37	c.977	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	0.212	-1.035603	0.02029	.	.	ENSG00000155495	ENST00000285879	T	0.01647	4.71	.	.	.	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	P	0.42993	0.797	B	0.28638	0.092	T	0.52268	-0.8598	8	0.72032	D	0.01	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	326	O60732	MAGC1_HUMAN	I	326	ENSP00000285879:T326I	ENSP00000285879:T326I	T	+	2	0	MAGEC1	140821833	0.085000	0.21516	0.017000	0.16124	0.018000	0.09664	0.240000	0.18042	0.148000	0.19059	0.150000	0.16122	ACT	MAGEC1	-	NULL		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140994167	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.016	T	T	140994167	C	T	140994167	3	4	131	1	0	0	0	0	1	0	0	0	9203	565	20	4	983	4	MAGEC1	23	140994167	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	672	140994167	14276393	2071	22211										
SLITRK4	139065	genome.wustl.edu	37	chrX	142718310	142718310	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcttccagttgcaattcaacGacacggccaatgtgttccag	8	12	2	0			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:142718310G>A	ENST00000381779.4	-	2	840	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SLITRK4_ENST00000356928.1_Silent_p.V205V|SLITRK4_ENST00000338017.4_Silent_p.V205V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	205						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCAATTCAACGACACGGCCAA	0.428																																																	0													88	84	85					X																	142718310		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.615C>T	X.37:g.142718310G>A			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V205	ENST00000381779.4	37	c.615	CCDS14679.1	X																																																																																			SLITRK4	-	NULL		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	G	NM_173078		142718310	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	silent	SNP	0.013	A	A	142718310	G	A	142718310	2	1	131	1	0	0	0	0	0	0	0	1	14775	1045	37	1		1	SLITRK4	23	142718310	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1724143	142718310	12552250	2072	22212										
SLITRK4	139065	genome.wustl.edu	37	chrX	142718888	142718888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	atctgcatttgtcgaagaaaTcagggctgacaaaatcagaa	9	7	3	3			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:142718888T>C	ENST00000381779.4	-	2	262	c.37A>G	c.(37-39)Att>Gtt	p.I13V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I13V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I13V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	13						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGAAGAAATCAGGGCTGAC	0.373																																																	0													44	42	42					X																	142718888		2203	4299	6502	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.37A>G	X.37:g.142718888T>C	ENSP00000371198:p.Ile13Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I13V	ENST00000381779.4	37	c.37	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.599316	0.00849	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.39	4.23	0.50019	.	0.659654	0.15189	N	0.275677	T	0.22742	0.0549	N	0.11427	0.14	0.27231	N	0.959391	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	10	0.07030	T	0.85	-9.1469	6.8477	0.23996	0.0:0.17:0.0:0.83	.	13	Q8IW52	SLIK4_HUMAN	V	13	ENSP00000371198:I13V;ENSP00000349400:I13V;ENSP00000336627:I13V	ENSP00000336627:I13V	I	-	1	0	SLITRK4	142546554	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.034000	0.30204	1.798000	0.52647	0.481000	0.45027	ATT	SLITRK4	-	NULL		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	T	NM_173078		142718888	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142718888	T	C	142718888	3	2	131	1	0	0	0	0	1	0	0	0	14775	1435	50	5	2480	5	SLITRK4	23	142718888	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	578	142718888	12551672	2073	22213										
AFF2	2334	genome.wustl.edu	37	chrX	147743667	147743667	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	agcaccaatgcctccaccttCtgttgtgatactgaattcaa	6	12	2	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:147743667C>A	ENST00000370460.2	+	3	898	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	AFF2_ENST00000342251.3_Missense_Mutation_p.S136Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S136Y|AFF2_ENST00000370458.1_Missense_Mutation_p.S136Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	140					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCACCTTCTGTTGTGATA	0.413																																																	0													223	218	220					X																	147743667		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.419C>A	X.37:g.147743667C>A	ENSP00000359489:p.Ser140Tyr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S140Y	ENST00000370460.2	37	c.419	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484041	0.63962	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.63	5.63	0.86233	.	0.116813	0.64402	D	0.000015	T	0.75170	0.3813	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.996	D;D;D;D;D;D	0.83275	0.935;0.935;0.935;0.992;0.996;0.914	T	0.78244	-0.2279	10	0.87932	D	0	.	18.7174	0.91680	0.0:1.0:0.0:0.0	.	140;136;136;136;140;136	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	Y	140;136;136;136	ENSP00000359489:S140Y;ENSP00000359486:S136Y;ENSP00000345459:S136Y;ENSP00000359487:S136Y	ENSP00000345459:S136Y	S	+	2	0	AFF2	147551359	1.000000	0.71417	0.935000	0.37517	0.993000	0.82548	6.223000	0.72257	2.365000	0.80145	0.600000	0.82982	TCT	AFF2	-	pfam_TF_AF4/FMR2		0.413	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	C	NM_002025		147743667	1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	0.934	A	A	147743667	C	A	147743667	3	1	131	1	0	0	0	0	1	0	0	0	357	913	32	3	429	3	AFF2	23	147743667	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	5024779	147743667	7526893	2074	22214										
IDS	3423	genome.wustl.edu	37	chrX	148577936	148577936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtttaaggcttggacgtcttCccgttgcctgatgtccatcc	10	12	1	1	rs193302907		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:148577936C>T	ENST00000340855.6	-	6	1029	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	IDS_ENST00000370441.4_Missense_Mutation_p.E274K|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Missense_Mutation_p.E63K|IDS_ENST00000370443.4_Missense_Mutation_p.E274K|IDS_ENST00000422081.2_Missense_Mutation_p.E63K	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	274					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGACGTCTTCCCGTTGCCTG	0.537																																																	0													194	149	164					X																	148577936		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.820G>A	X.37:g.148577936C>T	ENSP00000339801:p.Glu274Lys		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E274K	ENST00000340855.6	37	c.820	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	c	26.5	4.743484	0.89663	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441;ENST00000370443	D;D;D;D	0.99418	-5.62;-5.87;-5.59;-5.54	5.37	5.37	0.77165	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.141660	0.64402	D	0.000006	D	0.98210	0.9408	L	0.51853	1.615	0.80722	D	1	B;P;P	0.42871	0.082;0.571;0.792	B;B;B	0.38921	0.086;0.285;0.285	D	0.99950	1.1537	10	0.18276	T	0.48	.	18.4251	0.90606	0.0:1.0:0.0:0.0	.	274;184;274	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	K	274;63;274;274	ENSP00000339801:E274K;ENSP00000441261:E63K;ENSP00000359470:E274K;ENSP00000359472:E274K	ENSP00000339801:E274K	E	-	1	0	IDS	148385841	1.000000	0.71417	0.998000	0.56505	0.775000	0.43874	7.412000	0.80091	2.379000	0.81126	0.540000	0.68198	GAA	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.537	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148577936	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148577936	C	T	148577936	3	4	131	1	0	0	0	0	1	0	0	0	7523	864	30	1	878	1	IDS	23	148577936	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	834269	148577936	6692624	2075	22215										
CXorf40B	541578	genome.wustl.edu	37	chrX	149102009	149102009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	cgctggctgctcagcagaggAcgccagcgcgtctccacagt	13	15	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:149102009A>G	ENST00000370406.3	-	4	912	c.84T>C	c.(82-84)cgT>cgC	p.R28R	CXorf40B_ENST00000355203.2_Silent_p.R28R|CXorf40B_ENST00000462691.1_Silent_p.R28R|CXorf40B_ENST00000370404.1_Silent_p.R28R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	28										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAGAGGACGCCAGCGCG	0.597																																																	0													70	64	66					X																	149102009		2161	4297	6458	SO:0001819	synonymous_variant	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.84T>C	X.37:g.149102009A>G				Silent	SNP	superfamily_PUA-like_domain	p.R28	ENST00000370406.3	37	c.84	CCDS35426.1	X																																																																																			CXorf40B	-	superfamily_PUA-like_domain		0.597	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40B	HGNC	protein_coding	OTTHUMT00000082896.2	A	NP_001013867		149102009	-1	no_errors	ENST00000355203	ensembl	human	known	70_37	silent	SNP	0.887	G	G	149102009	A	G	149102009	2	3	131	1	0	0	0	0	0	0	0	1	4114	262	10	5		5	CXorf40B	23	149102009	Silent	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	524073	149102009	6168551	2076	22216										
MTM1	4534	genome.wustl.edu	37	chrX	149767133	149767133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tcacaaattatcgtctttatTtaagaagtttggaaacggta	7	5	2	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:149767133T>G	ENST00000370396.2	+	4	268	c.214T>G	c.(214-216)Tta>Gta	p.L72V	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Intron|MTM1_ENST00000413012.2_Missense_Mutation_p.L72V|MTM1_ENST00000543350.1_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	72	GRAM.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCTTTATTTAAGAAGTTT	0.308																																																	0													58	57	58					X																	149767133		2201	4293	6494	SO:0001583	missense	4534			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.214T>G	X.37:g.149767133T>G	ENSP00000359423:p.Leu72Val		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.L72V	ENST00000370396.2	37	c.214	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399215	0.42512	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.87179	-2.22;-2.22;-2.22	5.62	5.62	0.85841	GRAM (2);	0.066495	0.64402	D	0.000010	D	0.84696	0.5529	L	0.57536	1.79	0.80722	D	1	B;B	0.28760	0.132;0.221	B;B	0.32762	0.1;0.152	D	0.83565	0.0109	10	0.87932	D	0	.	8.8793	0.35365	0.0:0.0881:0.0:0.9119	.	72;72	B7Z491;Q13496	.;MTM1_HUMAN	V	72	ENSP00000359423:L72V;ENSP00000400699:L72V;ENSP00000389157:L72V	ENSP00000359423:L72V	L	+	1	2	MTM1	149517791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.012000	0.49575	1.890000	0.54733	0.486000	0.48141	TTA	MTM1	-	pfam_GRAM,smart_GRAM		0.308	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	T	NM_000252		149767133	1	no_errors	ENST00000370396	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149767133	T	G	149767133	3	3	131	1	0	0	0	0	1	0	0	0	9960	1838	64	5	224	5	MTM1	23	149767133	Missense_Mutation	SNP	T	TCGA-FU-A3HZ-01A-11D-A20U-09	665124	149767133	5503427	2077	22217										
CNGA2	1260	genome.wustl.edu	37	chrX	150912703	150912703	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ctagaagagaggggtcgggaGatcctcatgaaggagggact	17	6	1	4			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:150912703G>T	ENST00000329903.4	+	6	1761	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	576					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTCGGGAGATCCTCATGA	0.527																																																	0													148	126	134					X																	150912703		2203	4300	6503	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1728G>T	X.37:g.150912703G>T	ENSP00000328478:p.Glu576Asp		A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E576D	ENST00000329903.4	37	c.1728	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024267	0.19433	.	.	ENSG00000183862	ENST00000329903	D	0.97505	-4.41	5.33	4.27	0.50696	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.052067	0.85682	D	0.000000	D	0.93890	0.8045	L	0.45581	1.43	0.42050	D	0.991114	B	0.12013	0.005	B	0.11329	0.006	D	0.91079	0.4898	10	0.62326	D	0.03	.	7.2473	0.26129	0.2182:0.0:0.7818:0.0	.	576	Q16280	CNGA2_HUMAN	D	576	ENSP00000328478:E576D	ENSP00000328478:E576D	E	+	3	2	CNGA2	150663359	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.668000	0.46816	2.216000	0.71823	0.529000	0.55759	GAG	CNGA2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	G	NM_005140		150912703	1	no_errors	ENST00000329903	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150912703	G	T	150912703	3	4	131	1	0	0	0	0	1	0	0	0	3602	933	33	3	1750	3	CNGA2	23	150912703	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	1145570	150912703	4357857	2078	22218										
SLC6A8	6535	genome.wustl.edu	37	chrX	152959018	152959018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggctgcagagcagggcgtgcAcatctccaaggtggcagagt	16	10	1	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:152959018A>C	ENST00000253122.5	+	7	1594	c.1118A>C	c.(1117-1119)cAc>cCc	p.H373P	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.H258P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	373					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAGGGCGTGCACATCTCCAAG	0.587																																																	0													80	65	70					X																	152959018		2203	4300	6503	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1118A>C	X.37:g.152959018A>C	ENSP00000253122:p.His373Pro		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.H373P	ENST00000253122.5	37	c.1118	CCDS14726.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	2.969|2.969	-0.212982|-0.212982	0.06140|0.06140	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897|ENST00000442457	T;T|.	0.73152|.	-0.72;-0.72|.	5.48|5.48	4.28|4.28	0.50868|0.50868	.|.	0.130932|.	0.47852|.	N|.	0.000217|.	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.00104|0.00104	-2.125|-2.125	0.28091|0.28091	N|N	0.9318|0.9318	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.02654|.	T|.	1|.	.|.	10.7513|10.7513	0.46211|0.46211	0.8424:0.1576:0.0:0.0|0.8424:0.1576:0.0:0.0	.|.	382;373|.	Q59EV7;P48029|.	.;SC6A8_HUMAN|.	P|P	373;258;379|58	ENSP00000253122:H373P;ENSP00000403041:H258P|.	ENSP00000253122:H373P|.	H|T	+|+	2|1	0|0	SLC6A8|SLC6A8	152612212|152612212	0.628000|0.628000	0.27138|0.27138	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	1.185000|1.185000	0.32065|0.32065	0.688000|0.688000	0.31529|0.31529	0.430000|0.430000	0.28490|0.28490	CAC|ACA	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.587	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	A			152959018	1	no_errors	ENST00000253122	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152959018	A	C	152959018	3	2	131	1	0	0	0	0	1	0	0	0	14720	159	6	5	1144	5	SLC6A8	23	152959018	Missense_Mutation	SNP	A	TCGA-FU-A3HZ-01A-11D-A20U-09	2046315	152959018	2311542	2079	22219										
PLXNB3	5365	genome.wustl.edu	37	chrX	153040415	153040415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	tggactaccgcacctacgccGagcgcgccttcttccctggc	10	18	1	0	rs200530402		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153040415G>A	ENST00000361971.5	+	24	4126	c.4012G>A	c.(4012-4014)Gag>Aag	p.E1338K	PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1361K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E991K|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R972Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1338					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.E1338K(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTACGCCGAGCGCGCCTT	0.706																																																	1	Substitution - Missense(1)	skin(1)						G	LYS/GLU,LYS/GLU	0,3832		0,0,0,1631,570	46	48	47		4081,4012	5.1	0.7	X		47	1,6716		0,0,1,2425,1866	yes	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	56,56	0,0,1,4056,2436	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	1361/1933,1338/1910	153040415	1,10548	2201	4292	6493	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4012G>A	X.37:g.153040415G>A	ENSP00000355378:p.Glu1338Lys		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1361K	ENST00000361971.5	37	c.4081	CCDS14729.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.451896|2.451896	0.43531|0.43531	0.0|0.0	1.49E-4|1.49E-4	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000538282	T;T;T|T	0.11821|0.69561	2.74;2.74;2.74|-0.41	5.08|5.08	5.08|5.08	0.68730|0.68730	Plexin, cytoplasmic RasGAP domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77239|0.77239	0.4101|0.4101	M|M	0.79123|0.79123	2.44|2.44	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.75020|.	0.985;0.975;0.985|.	T|T	0.78481|0.78481	-0.2187|-0.2187	10|6	0.06494|.	T|.	0.89|.	.|.	12.6112|12.6112	0.56552|0.56552	0.0:0.164:0.836:0.0|0.0:0.164:0.836:0.0	.|.	991;1361;1338|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	K|Q	1361;1338;991|972	ENSP00000442736:E1361K;ENSP00000355378:E1338K;ENSP00000445569:E991K|ENSP00000441919:R972Q	ENSP00000355378:E1338K|.	E|R	+|+	1|2	0|0	PLXNB3|PLXNB3	152693609|152693609	0.999000|0.999000	0.42202|0.42202	0.744000|0.744000	0.31058|0.31058	0.013000|0.013000	0.08279|0.08279	2.720000|2.720000	0.47252|0.47252	2.086000|2.086000	0.62901|0.62901	0.436000|0.436000	0.28706|0.28706	GAG|CGA	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	G			153040415	1	no_errors	ENST00000538966	ensembl	human	known	70_37	missense	SNP	0.997	A	A	153040415	G	A	153040415	3	1	131	1	0	0	0	0	1	0	0	0	12149	1059	37	1	4220	1	PLXNB3	23	153040415	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	81397	153040415	2230145	2080	22220										
L1CAM	3897	genome.wustl.edu	37	chrX	153137669	153137669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gcttattgctggcaaagcagCggtagatgccctggaacctc	12	11	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153137669C>T	ENST00000370060.1	-	5	527	c.338G>A	c.(337-339)cGc>cAc	p.R113H	L1CAM_ENST00000370057.3_Missense_Mutation_p.R113H|L1CAM_ENST00000543994.1_Missense_Mutation_p.R115H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R115H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R108H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R113H|L1CAM_ENST00000361981.3_Missense_Mutation_p.R108H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	113	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCAAAGCAGCGGTAGATGCC	0.627																																																	0													113	89	97					X																	153137669		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.338G>A	X.37:g.153137669C>T	ENSP00000359077:p.Arg113His		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R115H	ENST00000370060.1	37	c.344	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421961	0.83559	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935	T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.36717	0.0977	M	0.67625	2.065	0.39375	D	0.966151	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.959;0.996	T	0.23511	-1.0186	10	0.87932	D	0	.	16.0481	0.80734	0.0:1.0:0.0:0.0	.	108;113;113	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	H	113;115;113;115;108;108;113;113;108	ENSP00000359077:R113H;ENSP00000438430:R115H;ENSP00000359074:R113H;ENSP00000439645:R115H;ENSP00000354712:R108H;ENSP00000359072:R108H;ENSP00000355380:R113H;ENSP00000402407:R113H;ENSP00000384902:R108H	ENSP00000355380:R113H	R	-	2	0	L1CAM	152790863	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.916000	0.28651	2.304000	0.77564	0.529000	0.55759	CGC	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	C	NM_024003		153137669	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153137669	C	T	153137669	3	4	131	1	0	0	0	0	1	0	0	0	8608	768	27	2	3535	2	L1CAM	23	153137669	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	97254	153137669	2132891	2081	22221										
FLNA	2316	genome.wustl.edu	37	chrX	153580009	153580009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ggagaagccacaggcaccacGaaggggctgtcgggaatgtg	17	9	0	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153580009G>A	ENST00000369850.3	-	43	7199	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	FLNA_ENST00000422373.1_Silent_p.F2313F|FLNA_ENST00000369856.3_Silent_p.F454F|FLNA_ENST00000344736.4_Silent_p.F2281F|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.F2313F	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2321					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGCACCACGAAGGGGCTGT	0.612																																																	0													48	53	51					X																	153580009		2096	4214	6310	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6963C>T	X.37:g.153580009G>A			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F2321	ENST00000369850.3	37	c.6963	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153580009	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153580009	G	A	153580009	2	1	131	1	0	0	0	0	0	0	0	1	5951	1049	37	1		1	FLNA	23	153580009	Silent	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	442340	153580009	1690551	2082	22222										
FAM50A	9130	genome.wustl.edu	37	chrX	153678638	153678638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	ccagccgctgggaaccctacGaccctgaaaagaagtgggac	12	13	0	2			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153678638G>A	ENST00000393600.3	+	12	1092	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	328					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAACCCTACGACCCTGAAAA	0.622																																																	0													77	69	71					X																	153678638		2203	4300	6503	SO:0001583	missense	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.982G>A	X.37:g.153678638G>A	ENSP00000377225:p.Asp328Asn		A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	pfam_XAP5	p.D328N	ENST00000393600.3	37	c.982	CCDS14751.1	X	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294833	0.60086	.	.	ENSG00000071859	ENST00000393600	.	.	.	4.78	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.85859	2.78	0.50039	D	0.999847	P	0.45634	0.863	B	0.42163	0.378	T	0.57551	-0.7792	9	0.36615	T	0.2	-29.8052	8.6296	0.33911	0.0892:0.1497:0.7611:0.0	.	328	Q14320	FA50A_HUMAN	N	328	.	ENSP00000377225:D328N	D	+	1	0	FAM50A	153331832	1.000000	0.71417	0.720000	0.30636	0.176000	0.22953	9.224000	0.95209	0.358000	0.24211	0.544000	0.68410	GAC	FAM50A	-	pfam_XAP5		0.622	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	G	NM_004699		153678638	1	no_errors	ENST00000393600	ensembl	human	known	70_37	missense	SNP	0.994	A	A	153678638	G	A	153678638	3	1	131	1	0	0	0	0	1	0	0	0	5595	1058	37	1	1028	1	FAM50A	23	153678638	Missense_Mutation	SNP	G	TCGA-FU-A3HZ-01A-11D-A20U-09	98629	153678638	1591922	2083	22223										
F8	2157	genome.wustl.edu	37	chrX	154156997	154156997	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	aaaatcttccttcttcatttCaactgatatggtatcatcat	3	9	6	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:154156997C>A	ENST00000360256.4	-	14	5268	c.5068G>T	c.(5068-5070)Gaa>Taa	p.E1690*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1690					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTCATTTCAACTGATATG	0.393																																																	0													127	109	115					X																	154156997		2203	4300	6503	SO:0001587	stop_gained	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5068G>T	X.37:g.154156997C>A	ENSP00000353393:p.Glu1690*		Q14286|Q5HY69	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1690*	ENST00000360256.4	37	c.5068	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	c	45	11.567071	0.99577	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.0	5.0	0.66597	.	0.289499	0.37261	N	0.002170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.1061	12.7123	0.57096	0.0:1.0:0.0:0.0	.	.	.	.	X	1690	.	ENSP00000353393:E1690X	E	-	1	0	F8	153810191	0.943000	0.32029	0.172000	0.22920	0.521000	0.34408	2.491000	0.45303	2.053000	0.61076	0.540000	0.68198	GAA	F8	-	NULL		0.393	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	C			154156997	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	nonsense	SNP	0.807	A	A	154156997	C	A	154156997	4	1	131	1	0	0	0	0	0	1	0	0	5362	835	29	3	2067	3	F8	23	154156997	Nonsense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	478359	154156997	1113563	2084	22224										
RAB39B	116442	genome.wustl.edu	37	chrX	154490247	154490247	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0177884615384615	37	1	0.306873290550227	0.579741702958402	0.302912936233708	3.24719751037214e-10	1.25991263402439e-08	0	gtcaggtctgtgaaggctttCtccacattaatggcatctcg	10	10	4	1			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:154490247C>A	ENST00000369454.3	-	2	783	c.483G>T	c.(481-483)gaG>gaT	p.E161D		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	161					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAAGGCTTTCTCCACATTAA	0.502																																																	0													105	84	91					X																	154490247		2203	4300	6503	SO:0001583	missense	116442			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.483G>T	X.37:g.154490247C>A	ENSP00000358466:p.Glu161Asp		Q5JT79|Q8NEX3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E161D	ENST00000369454.3	37	c.483	CCDS14766.1	X	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626278	0.66901	.	.	ENSG00000155961	ENST00000369454	T	0.78246	-1.16	5.17	5.17	0.71159	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	N	0.11756	0.17	0.51012	D	0.999901	D	0.58620	0.983	D	0.68483	0.958	T	0.77424	-0.2593	10	0.59425	D	0.04	.	9.0317	0.36262	0.0:0.8963:0.0:0.1037	.	161	Q96DA2	RB39B_HUMAN	D	161	ENSP00000358466:E161D	ENSP00000358466:E161D	E	-	3	2	RAB39B	154143441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.782000	0.55401	2.280000	0.76307	0.513000	0.50165	GAG	RAB39B	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.502	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39B	HGNC	protein_coding	OTTHUMT00000058792.1	C	NM_171998		154490247	-1	no_errors	ENST00000369454	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154490247	C	A	154490247	3	1	131	1	0	0	0	0	1	0	0	0	12960	912	32	3	162	3	RAB39B	23	154490247	Missense_Mutation	SNP	C	TCGA-FU-A3HZ-01A-11D-A20U-09	333250	154490247	780313	2085	22225										
PLOD1	5351	genome.wustl.edu	37	chr1	12009848	12009848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aggcgcttggcctaggggagGactggaatgtggagaagggg	21	5	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:12009848G>A	ENST00000196061.4	+	3	214	c.187G>A	c.(187-189)Gac>Aac	p.D63N	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.D110N	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	63					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCTAGGGGAGGACTGGAATGT	0.557																																																	0													102	110	107					1																	12009848		2203	4300	6503	SO:0001583	missense	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.187G>A	1.37:g.12009848G>A	ENSP00000196061:p.Asp63Asn		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.D110N	ENST00000196061.4	37	c.328	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300216	0.40694	.	.	ENSG00000083444	ENST00000449038;ENST00000414311;ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	3.89	3.89	0.44902	.	0.283189	0.33515	N	0.004832	T	0.19287	0.0463	L	0.54323	1.7	0.30990	N	0.721509	P;B	0.36465	0.554;0.126	B;B	0.24701	0.055;0.034	T	0.26950	-1.0088	10	0.59425	D	0.04	.	15.0417	0.71796	0.0:0.0:1.0:0.0	.	110;63	B4DR87;Q02809	.;PLOD1_HUMAN	N	110;63;63;110;63;63	ENSP00000414443:D110N;ENSP00000365548:D110N;ENSP00000405372:D63N;ENSP00000196061:D63N	ENSP00000196061:D63N	D	+	1	0	PLOD1	11932435	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	4.330000	0.59266	2.006000	0.58801	0.557000	0.71058	GAC	PLOD1	-	NULL		0.557	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	G	NM_000302		12009848	1	no_errors	ENST00000376369	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12009848	G	A	12009848	3	1	132	1	0	0	0	0	1	0	0	0	12125	1174	41	1	197	1	PLOD1	1	12009848	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		12009848	237240773	1	22226										
FLG	2312	genome.wustl.edu	37	chr1	152285314	152285314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tagaggaattctgtgtgtgaCgagtgcctgattttctggag	14	5	2	3	rs111657882		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:152285314C>T	ENST00000368799.1	-	3	2083	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	683	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTGTGACGAGTGCCTGA	0.552									Ichthyosis																																								0								C	HIS/ARG	1,4405	826.1+/-416.6	0,1,2202	348	351	349		2048	-5.3	0	1	dbSNP_132	349	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	683/4062	152285314	1,13005	2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2048G>A	1.37:g.152285314C>T	ENSP00000357789:p.Arg683His		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R683H	ENST00000368799.1	37	c.2048	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	t	4.483	0.089602	0.08632	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.01113	5.32	2.67	-5.33	0.02713	.	.	.	.	.	T	0.00210	0.0006	N	0.11724	0.165	0.09310	N	1	P	0.35011	0.48	B	0.28709	0.093	T	0.44298	-0.9337	9	0.33940	T	0.23	.	2.9283	0.05792	0.3564:0.2684:0.0:0.3753	.	683	P20930	FILA_HUMAN	H	683	ENSP00000357789:R683H	ENSP00000357789:R683H	R	-	2	0	FLG	150551938	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.460000	0.00999	-1.815000	0.01222	-0.374000	0.07098	CGT	FLG	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152285314	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152285314	C	T	152285314	3	4	132	1	0	0	0	0	1	0	0	0	5940	536	19	2	10141	2	FLG	1	152285314	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	140275466	152285314	96965307	2	22227										
C1orf114	57821	genome.wustl.edu	37	chr1	169391134	169391134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tttcccaaacatattcctttCgttttcaaaataatttttaa	1	8	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:169391134C>T	ENST00000367806.3	-	3	687	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E179K|CCDC181_ENST00000545005.1_Missense_Mutation_p.E179K	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	179						nucleus (GO:0005634)											ATATTCCTTTCGTTTTCAAAA	0.343																																																	0													72	77	75					1																	169391134		2203	4298	6501	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.535G>A	1.37:g.169391134C>T	ENSP00000356780:p.Glu179Lys		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.E179K	ENST00000367806.3	37	c.535		1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991516	0.54041	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.26660	1.79;1.79;1.79;1.72	5.42	5.42	0.78866	.	0.157499	0.56097	D	0.000035	T	0.38161	0.1030	M	0.72118	2.19	0.37344	D	0.910518	D;D;D	0.71674	0.973;0.998;0.998	B;P;P	0.55965	0.406;0.788;0.788	T	0.25502	-1.0130	9	0.59425	D	0.04	-18.534	19.2312	0.93841	0.0:1.0:0.0:0.0	.	179;179;179	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	K	179	ENSP00000356779:E179K;ENSP00000356780:E179K;ENSP00000442297:E179K;ENSP00000411000:E179K	ENSP00000356779:E179K	E	-	1	0	C1orf114	167657758	1.000000	0.71417	0.992000	0.48379	0.133000	0.20885	4.240000	0.58701	2.533000	0.85409	0.557000	0.71058	GAA	C1orf114	-	NULL		0.343	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	C	NM_021179		169391134	-1	no_errors	ENST00000367806	ensembl	human	known	70_37	missense	SNP	0.742	T	T	169391134	C	T	169391134	3	4	132	1	0	0	0	0	1	0	0	0	1992	893	31	1	1007	1	C1orf114	1	169391134	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	17105820	169391134	79859487	3	22228										
DARS2	55157	genome.wustl.edu	37	chr1	173795921	173795921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gtgtggatggattcagtaccGaaggtaaattgagaaagaca	13	4	1	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:173795921G>A	ENST00000361951.4	+	2	951	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000345664.6_5'Flank|DARS2_ENST00000239457.5_5'UTR|CENPL_ENST00000495275.1_5'Flank|CENPL_ENST00000356198.2_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	75					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ATTCAGTACCGAAGGTAAATT	0.433																																																	0													123	117	119					1																	173795921		2203	4300	6503	SO:0001583	missense	55157			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.224G>A	1.37:g.173795921G>A	ENSP00000355086:p.Arg75Gln			Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	p.R75Q	ENST00000361951.4	37	c.224	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864074	0.32884	.	.	ENSG00000117593	ENST00000361951	T	0.24350	1.86	5.57	5.57	0.84162	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.265612	0.30920	N	0.008615	T	0.12347	0.0300	L	0.46819	1.47	0.80722	D	1	B	0.24882	0.113	B	0.24394	0.053	T	0.05468	-1.0883	10	0.66056	D	0.02	-14.082	8.6371	0.33955	0.1631:0.0:0.8369:0.0	.	75	Q6PI48	SYDM_HUMAN	Q	75	ENSP00000355086:R75Q	ENSP00000355086:R75Q	R	+	2	0	DARS2	172062544	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.733000	0.68571	2.610000	0.88304	0.591000	0.81541	CGA	DARS2	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-ligase_IIb_bac/mt		0.433	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	G	NM_018122		173795921	1	no_errors	ENST00000361951	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173795921	G	A	173795921	3	1	132	1	0	0	0	0	1	0	0	0	4247	1058	37	1	230	1	DARS2	1	173795921	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	4404787	173795921	75454700	4	22229										
DHX9	1660	genome.wustl.edu	37	chr1	182844012	182844012	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	attttctggaagactgcattCagatgacccactttgttcct	7	10	2	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:182844012C>G	ENST00000367549.3	+	16	1848	c.1738C>G	c.(1738-1740)Cag>Gag	p.Q580E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383																																					Colon(69;210 1162 3697 13559 39565)												0													128	132	131					1																	182844012		1876	4109	5985	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1738C>G	1.37:g.182844012C>G	ENSP00000356520:p.Gln580Glu		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.Q580E	ENST00000367549.3	37	c.1738	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771827	0.49680	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.26660	1.72	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.02985	-0.445	0.80722	D	1	B	0.23650	0.089	B	0.27887	0.084	T	0.11717	-1.0576	10	0.02654	T	1	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	580	Q08211	DHX9_HUMAN	E	580	ENSP00000356520:Q580E	ENSP00000356520:Q580E	Q	+	1	0	DHX9	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG	DHX9	-	NULL		0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	C	NM_030588		182844012	1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	G	G	182844012	C	G	182844012	3	3	132	1	0	0	0	0	1	0	0	0	4526	827	29	1	1796	1	DHX9	1	182844012	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	9048091	182844012	66406609	5	22230										
CFH	3075	genome.wustl.edu	37	chr1	196648881	196648881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	acagtgaaagaggagatgctGtatgcactgaatctggatgg	14	5	1	4			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:196648881G>A	ENST00000359637.2	+	5	618	c.556G>A	c.(556-558)Gta>Ata	p.V186I	CFH_ENST00000367429.4_Missense_Mutation_p.V250I|CFH_ENST00000439155.2_Missense_Mutation_p.V250I			P08603	CFAH_HUMAN	complement factor H	250	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGAGATGCTGTATGCACTGA	0.318																																																	0													96	89	91					1																	196648881		2203	4298	6501	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.556G>A	1.37:g.196648881G>A	ENSP00000352658:p.Val186Ile		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V250I	ENST00000359637.2	37	c.748		1	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174182	0.21704	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.66280	-0.2;-0.2;-0.2	5.85	-4.29	0.03721	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.30727	0.0774	N	0.10916	0.065	0.09310	N	1	B;P;P;B	0.37207	0.069;0.499;0.587;0.082	B;B;B;B	0.28232	0.087;0.074;0.087;0.012	T	0.20571	-1.0271	9	0.21014	T	0.42	.	7.5978	0.28058	0.6122:0.1321:0.2557:0.0	.	186;250;250;250	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	I	250;250;250;186	ENSP00000356399:V250I;ENSP00000402656:V250I;ENSP00000352658:V186I	ENSP00000352658:V186I	V	+	1	0	CFH	194915504	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-3.571000	0.00427	-0.624000	0.05611	-0.291000	0.09656	GTA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.318	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	G	NM_000186		196648881	1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196648881	G	A	196648881	3	1	132	1	0	0	0	0	1	0	0	0	3288	1377	48	4	770	4	CFH	1	196648881	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	13804869	196648881	52601740	6	22231										
FBXO11	80204	genome.wustl.edu	37	chr2	48059543	48059543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gtccatgatgaatatgattcCgtctaataattgggtttcca	8	7	1	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:48059543C>T	ENST00000403359.3	-	11	1415	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.R364Q|FBXO11_ENST00000402508.1_Missense_Mutation_p.R364Q	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	448					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGATTCCGTCTAATAAT	0.343			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											87	89	88					2																	48059543		2202	4299	6501	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1343G>A	2.37:g.48059543C>T	ENSP00000384823:p.Arg448Gln		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.R448Q	ENST00000403359.3	37	c.1343	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586627	0.86851	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.80480	-1.38;0.93;-1.38	5.95	5.95	0.96441	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	M	0.75777	2.31	0.80722	D	1	D	0.54964	0.969	P	0.59761	0.863	D	0.88197	0.2881	10	0.54805	T	0.06	-5.3292	20.3748	0.98911	0.0:1.0:0.0:0.0	.	448	Q86XK2	FBX11_HUMAN	Q	364;448;364	ENSP00000385398:R364Q;ENSP00000384823:R448Q;ENSP00000323822:R364Q	ENSP00000323822:R364Q	R	-	2	0	FBXO11	47913047	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGG	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2		0.343	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	C	NM_012167, NM_018693, NM_025133		48059543	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48059543	C	T	48059543	3	4	132	1	0	0	0	0	1	0	0	0	5745	652	23	2	1582	2	FBXO11	2	48059543	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		48059543	195139830	7	22232										
USP34	9736	genome.wustl.edu	37	chr2	61561086	61561086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	caaatagttttggaagaagaCgaagtgaaattactactgat	9	4	0	4			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:61561086C>T	ENST00000398571.2	-	19	2841	c.2765G>A	c.(2764-2766)cGt>cAt	p.R922H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	922					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGAAGAAGACGAAGTGAAAT	0.274																																																	0													51	48	49					2																	61561086		1821	4063	5884	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2765G>A	2.37:g.61561086C>T	ENSP00000381577:p.Arg922His		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.R922H	ENST00000398571.2	37	c.2765	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815838	0.90790	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.05139	3.49	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.52573	1.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04090	-1.0978	10	0.87932	D	0	.	14.9358	0.70954	0.0:0.9317:0.0:0.0683	.	922	Q70CQ2	UBP34_HUMAN	H	770;770;922	ENSP00000381577:R922H	ENSP00000263989:R770H	R	-	2	0	USP34	61414590	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.625000	0.83145	1.491000	0.48482	-0.136000	0.14681	CGT	USP34	-	NULL		0.274	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61561086	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61561086	C	T	61561086	3	4	132	1	0	0	0	0	1	0	0	0	17096	536	19	2	8123	2	USP34	2	61561086	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	13501543	61561086	181638287	8	22233										
REG1B	5968	genome.wustl.edu	37	chr2	79312385	79312385	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aggagaacttcttctcacaaGattcatccttccatttcttg	5	11	4	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:79312385G>C	ENST00000305089.3	-	6	538	c.458C>G	c.(457-459)tCt>tGt	p.S153C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	153	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTTCTCACAAGATTCATCCTT	0.403																																																	0													100	97	98					2																	79312385		2203	4300	6503	SO:0001583	missense	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.458C>G	2.37:g.79312385G>C	ENSP00000303206:p.Ser153Cys			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S153C	ENST00000305089.3	37	c.458	CCDS1963.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.083|3.083	-0.188476|-0.188476	0.06299|0.06299	.|.	.|.	ENSG00000172023|ENSG00000172023	ENST00000454188|ENST00000305089	T|T	0.09073|0.09350	3.02|2.99	3.47|3.47	-6.94|-6.94	0.01633|0.01633	.|C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.|2.044120	.|0.03561	.|N	.|0.226976	T|T	0.20088|0.20088	0.0483|0.0483	M|M	0.82056|0.82056	2.57|2.57	0.09310|0.09310	N|N	1|1	.|P	.|0.52170	.|0.951	.|P	.|0.48304	.|0.573	T|T	0.46317|0.46317	-0.9200|-0.9200	7|10	0.87932|0.59425	D|D	0|0.04	.|.	9.6056|9.6056	0.39632|0.39632	0.0:0.1947:0.6386:0.1667|0.0:0.1947:0.6386:0.1667	.|.	.|153	.|P48304	.|REG1B_HUMAN	V|C	133|153	ENSP00000387410:L133V|ENSP00000303206:S153C	ENSP00000387410:L133V|ENSP00000303206:S153C	L|S	-|-	1|2	0|0	REG1B|REG1B	79165893|79165893	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-0.954000|-0.954000	0.03873|0.03873	-1.884000|-1.884000	0.01119|0.01119	-0.516000|-0.516000	0.04426|0.04426	CTT|TCT	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.403	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	G	NM_006507		79312385	-1	no_errors	ENST00000305089	ensembl	human	known	70_37	missense	SNP	0.000	C	C	79312385	G	C	79312385	3	2	132	1	0	0	0	0	1	0	0	0	13241	942	33	1	46	1	REG1B	2	79312385	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	17751299	79312385	163886988	9	22234										
AFF3	3899	genome.wustl.edu	37	chr2	100217938	100217938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gggcttgctgccctcactctCgctggagctgctctcggtct	12	15	4	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:100217938C>T	ENST00000409236.2	-	12	1442	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	AFF3_ENST00000317233.4_Missense_Mutation_p.E444K|AFF3_ENST00000409579.1_Missense_Mutation_p.E469K|AFF3_ENST00000356421.2_Missense_Mutation_p.E469K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	444	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTCACTCTCGCTGGAGCTG	0.642																																																	0													18	19	19					2																	100217938		2202	4300	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1330G>A	2.37:g.100217938C>T	ENSP00000387207:p.Glu444Lys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E469K	ENST00000409236.2	37	c.1405	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.092577	0.94149	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000022	T	0.69342	0.3100	L	0.45581	1.43	0.58432	D	0.999995	D;D;D	0.64830	0.994;0.963;0.975	P;P;B	0.56751	0.805;0.516;0.381	T	0.65360	-0.6187	10	0.26408	T	0.33	.	18.6719	0.91514	0.0:1.0:0.0:0.0	.	597;444;469	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	K	444;469;469;444;444;597;469	ENSP00000317421:E444K;ENSP00000348793:E469K;ENSP00000386834:E469K;ENSP00000387207:E444K	ENSP00000317421:E444K	E	-	1	0	AFF3	99584370	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.996000	0.76263	2.413000	0.81919	0.579000	0.79373	GAG	AFF3	-	pfam_TF_AF4/FMR2		0.642	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100217938	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100217938	C	T	100217938	3	4	132	1	0	0	0	0	1	0	0	0	358	893	31	1	2398	1	AFF3	2	100217938	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	20905553	100217938	142981435	10	22235										
RGPD3	653489	genome.wustl.edu	37	chr2	107041079	107041079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gcttcaggttcattgtagtcGttatccaatgattagcacac	8	9	2	1	rs534325470		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:107041079G>A	ENST00000409886.3	-	20	3431	c.3344C>T	c.(3343-3345)aCg>aTg	p.T1115M	RGPD3_ENST00000304514.7_Missense_Mutation_p.T1115M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1115	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CATTGTAGTCGTTATCCAATG	0.423													.|||	1	0.000199681	0	0	5008	,	,		19479	0		0	False		,,,				2504	0.001																0													6	5	6					2																	107041079		683	1553	2236	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3344C>T	2.37:g.107041079G>A	ENSP00000386588:p.Thr1115Met		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.T1115M	ENST00000409886.3	37	c.3344	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.22	1.574403	0.28092	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.50001	0.76;0.76	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.63070	0.2480	M	0.69248	2.105	0.40225	D	0.977789	D	0.89917	1.0	D	0.97110	1.0	T	0.66795	-0.5833	9	0.72032	D	0.01	-17.0719	10.4115	0.44296	0.0:0.0:1.0:0.0	.	1115	A6NKT7	RGPD3_HUMAN	M	1115;873;1115	ENSP00000386588:T1115M;ENSP00000303659:T1115M	ENSP00000303659:T1115M	T	-	2	0	RGPD3	106407511	1.000000	0.71417	0.778000	0.31720	0.234000	0.25298	6.383000	0.73172	1.314000	0.45095	0.186000	0.17326	ACG	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	G	XM_929931		107041079	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	0.998	A	A	107041079	G	A	107041079	3	1	132	1	0	0	0	0	1	0	0	0	13317	1145	40	2	1948	2	RGPD3	2	107041079	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	6823141	107041079	136158294	11	22236										
SAP130	79595	genome.wustl.edu	37	chr2	128783857	128783857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tcctaaccgaggaaactgttGagaactcatttccacctgta	7	11	1	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:128783857G>A	ENST00000259235.3	-	2	217	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.Q30*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.Q4*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	30					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAAACTGTTGAGAACTCATT	0.433																																																	0													80	85	83					2																	128783857		2203	4300	6503	SO:0001587	stop_gained	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.88C>T	2.37:g.128783857G>A	ENSP00000259235:p.Gln30*		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	NULL	p.Q30*	ENST00000259235.3	37	c.88	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.175953	0.97348	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.2	5.2	0.72013	.	0.054940	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.5545	15.6615	0.77190	0.0:0.0:1.0:0.0	.	.	.	.	X	30;30;4;4;4	.	ENSP00000259234:Q4X	Q	-	1	0	SAP130	128500327	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.912000	0.69948	2.422000	0.82143	0.555000	0.69702	CAA	SAP130	-	NULL		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128783857	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	128783857	G	A	128783857	4	1	132	1	0	0	0	0	0	1	0	0	13861	1299	45	1	3243	1	SAP130	2	128783857	Nonsense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	21742778	128783857	114415516	12	22237										
TANC1	85461	genome.wustl.edu	37	chr2	160027048	160027048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tttgaagcacgatttgctccCtacaagccacaagacatttt	6	11	0	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:160027048C>T	ENST00000263635.6	+	10	1320	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	TANC1_ENST00000454300.1_Silent_p.P255P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	361					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GATTTGCTCCCTACAAGCCAC	0.338																																																	0													73	68	70					2																	160027048		1815	4080	5895	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1083C>T	2.37:g.160027048C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P361	ENST00000263635.6	37	c.1083	CCDS42766.1	2																																																																																			TANC1	-	NULL		0.338	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	C			160027048	1	no_errors	ENST00000263635	ensembl	human	known	70_37	silent	SNP	1.000	T	T	160027048	C	T	160027048	2	4	132	1	0	0	0	0	0	0	0	1	15574	668	24	4		4	TANC1	2	160027048	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	31243191	160027048	83172325	13	22238										
GULP1	51454	genome.wustl.edu	37	chr2	189387534	189387534	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aaggaacagaagttgtgagaGatgctgtaaggaaactaaag	13	3	0	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:189387534G>A	ENST00000409580.1	+	6	856	c.142G>A	c.(142-144)Gat>Aat	p.D48N	GULP1_ENST00000410051.1_Missense_Mutation_p.D48N|GULP1_ENST00000409609.1_Missense_Mutation_p.D48N|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Missense_Mutation_p.D48N|GULP1_ENST00000409843.1_Missense_Mutation_p.D48N|GULP1_ENST00000409637.3_Missense_Mutation_p.D48N|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_Missense_Mutation_p.D48N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	48	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.D48Y(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AGTTGTGAGAGATGCTGTAAG	0.383																																					Pancreas(178;563 2065 20199 42378 52815)												1	Substitution - Missense(1)	lung(1)											139	135	137					2																	189387534		2203	4300	6503	SO:0001583	missense	51454			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.142G>A	2.37:g.189387534G>A	ENSP00000386289:p.Asp48Asn		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.D48N	ENST00000409580.1	37	c.142	CCDS2295.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302097	0.81136	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.58	5.58	0.84498	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.049028	0.85682	N	0.000000	T	0.42268	0.1195	L	0.52011	1.625	0.80722	D	1	P;B;D	0.71674	0.906;0.237;0.998	P;B;D	0.81914	0.673;0.292;0.995	T	0.12167	-1.0558	10	0.59425	D	0.04	-8.6868	17.0634	0.86553	0.0:0.0:1.0:0.0	.	48;48;48	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	N	48	ENSP00000387144:D48N;ENSP00000386732:D48N;ENSP00000387013:D48N;ENSP00000386809:D48N;ENSP00000352047:D48N;ENSP00000386289:D48N;ENSP00000386402:D48N;ENSP00000386867:D48N	ENSP00000352047:D48N	D	+	1	0	GULP1	189095779	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	8.228000	0.89789	2.638000	0.89438	0.467000	0.42956	GAT	GULP1	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.383	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	HGNC	protein_coding	OTTHUMT00000335722.1	G	NM_016315		189387534	1	no_errors	ENST00000359135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189387534	G	A	189387534	3	1	132	1	0	0	0	0	1	0	0	0	6921	942	33	1	152	1	GULP1	2	189387534	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	29360486	189387534	53811839	14	22239										
COL6A3	1293	genome.wustl.edu	37	chr2	238289881	238289881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	caaagtctagagcagagcccGtgtacagggccgagccgtcc	13	13	1	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:238289881G>A	ENST00000295550.4	-	5	2026	c.1574C>T	c.(1573-1575)aCg>aTg	p.T525M	COL6A3_ENST00000347401.3_Missense_Mutation_p.T324M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T525M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T319M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T319M|COL6A3_ENST00000392004.3_Missense_Mutation_p.T319M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T118M|COL6A3_ENST00000392003.2_Missense_Mutation_p.T118M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	525	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T525M(2)|p.T319M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCAGAGCCCGTGTACAGGGC	0.517																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											86	97	93					2																	238289881		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1574C>T	2.37:g.238289881G>A	ENSP00000295550:p.Thr525Met		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T525M	ENST00000295550.4	37	c.1574	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837249	0.50951	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.6	4.63	0.57726	von Willebrand factor, type A (3);	0.233058	0.29767	N	0.011244	D	0.94525	0.8237	M	0.90922	3.16	0.49483	D	0.999792	D;D;D;D;D;D	0.89917	0.997;1.0;0.986;0.999;1.0;0.999	D;D;D;D;D;D	0.83275	0.926;0.996;0.964;0.977;0.989;0.926	D	0.95196	0.8312	10	0.72032	D	0.01	.	14.0547	0.64761	0.0777:0.0:0.9223:0.0	.	525;118;118;319;319;525	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	525;324;319;118;319;525;319;118;525	ENSP00000295550:T525M;ENSP00000315609:T324M;ENSP00000315873:T319M;ENSP00000418285:T118M;ENSP00000386844:T319M;ENSP00000295546:T525M;ENSP00000375861:T319M;ENSP00000375860:T118M;ENSP00000389539:T525M	ENSP00000295550:T525M	T	-	2	0	COL6A3	237954620	0.993000	0.37304	0.932000	0.37286	0.140000	0.21249	2.068000	0.41471	1.198000	0.43158	0.655000	0.94253	ACG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238289881	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	A	A	238289881	G	A	238289881	3	1	132	1	0	0	0	0	1	0	0	0	3706	1145	40	2	8166	2	COL6A3	2	238289881	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	48902347	238289881	4909492	15	22240										
SLC35A5	55032	genome.wustl.edu	37	chr3	112299501	112299501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cacaacttggcaggacgtggAtttcatcacgatgccttttt	9	10	2	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr3:112299501A>G	ENST00000492406.1	+	6	820	c.537A>G	c.(535-537)ggA>ggG	p.G179G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	179					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CAGGACGTGGATTTCATCACG	0.448																																																	0													120	117	118					3																	112299501		2203	4300	6503	SO:0001819	synonymous_variant	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.537A>G	3.37:g.112299501A>G			D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Silent	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.G179	ENST00000492406.1	37	c.537	CCDS2967.1	3																																																																																			SLC35A5	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	HGNC	protein_coding	OTTHUMT00000354184.1	A	NM_017945		112299501	1	no_errors	ENST00000492406	ensembl	human	known	70_37	silent	SNP	0.910	G	G	112299501	A	G	112299501	2	3	132	1	0	0	0	0	0	0	0	1	14604	320	12	5		5	SLC35A5	3	112299501	Silent	SNP	A	TCGA-FU-A3NI-01A-11D-A21Q-09		112299501	85722929	16	22241										
NLGN1	22871	genome.wustl.edu	37	chr3	173998546	173998546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tttcagacctacgagaaaaaAttctgtacctgtcacgtcag	7	10	4	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr3:173998546A>G	ENST00000457714.1	+	7	2354	c.1925A>G	c.(1924-1926)aAt>aGt	p.N642S	NLGN1_ENST00000361589.4_Missense_Mutation_p.N642S|NLGN1_ENST00000401917.3_Missense_Mutation_p.N682S|NLGN1_ENST00000545397.1_Missense_Mutation_p.N642S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	659					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACGAGAAAAAATTCTGTACCT	0.428																																																	0													118	119	118					3																	173998546		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1925A>G	3.37:g.173998546A>G	ENSP00000392500:p.Asn642Ser		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.N682S	ENST00000457714.1	37	c.2045	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	A	3.317	-0.139636	0.06669	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.64618	-0.1;-0.1;-0.1;-0.11	5.59	5.59	0.84812	.	0.098878	0.64402	D	0.000002	T	0.33962	0.0881	N	0.02011	-0.69	0.40675	D	0.982257	B	0.10296	0.003	B	0.04013	0.001	T	0.38112	-0.9676	10	0.07175	T	0.84	.	16.07	0.80919	1.0:0.0:0.0:0.0	.	642	Q8N2Q7-2	.	S	642;642;642;682	ENSP00000392500:N642S;ENSP00000354541:N642S;ENSP00000441108:N642S;ENSP00000385750:N682S	ENSP00000354541:N642S	N	+	2	0	NLGN1	175481240	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.172000	0.50832	2.254000	0.74563	0.533000	0.62120	AAT	NLGN1	-	NULL		0.428	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	A	NM_014932		173998546	1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	1.000	G	G	173998546	A	G	173998546	3	3	132	1	0	0	0	0	1	0	0	0	10485	101	4	5	1943	5	NLGN1	3	173998546	Missense_Mutation	SNP	A	TCGA-FU-A3NI-01A-11D-A21Q-09	61699045	173998546	24023884	17	22242										
IL1RAP	3556	genome.wustl.edu	37	chr3	190374255	190374255	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ccccagtgggagacacacctCtgtaagcctgttccccaaga	9	15	1	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr3:190374255C>T	ENST00000317757.3	+	12	2129	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	RP11-268E23.2_ENST00000609508.1_lincRNA|IL1RAP_ENST00000443369.2_Silent_p.L641L	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	0					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGACACACCTCTGTAAGCCTG	0.522																																																	0													46	51	49					3																	190374255		692	1591	2283	SO:0001819	synonymous_variant	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1923C>T	3.37:g.190374255C>T			B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.L641	ENST00000317757.3	37	c.1923	CCDS54696.1	3																																																																																			IL1RAP	-	NULL		0.522	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190374255	1	no_errors	ENST00000443369	ensembl	human	known	70_37	silent	SNP	0.980	T	T	190374255	C	T	190374255	2	4	132	1	0	0	0	0	0	0	0	1	7680	900	32	1		1	IL1RAP	3	190374255	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	16375709	190374255	7648175	18	22243										
MTTP	4547	genome.wustl.edu	37	chr4	100528037	100528037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tcccaagtcttctgaagtatGcagaagcaggagaagggccc	12	10	2	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr4:100528037G>A	ENST00000265517.5	+	11	1680	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.A493T|MTTP_ENST00000511045.1_Missense_Mutation_p.A520T			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	493	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCTGAAGTATGCAGAAGCAGG	0.463																																																	0													61	64	63					4																	100528037		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1477G>A	4.37:g.100528037G>A	ENSP00000265517:p.Ala493Thr		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A493T	ENST00000265517.5	37	c.1477	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462486	0.63513	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.70164	-0.46;-0.46;-0.46	5.51	4.67	0.58626	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.096867	0.64402	N	0.000001	T	0.70718	0.3256	M	0.77103	2.36	0.58432	D	0.999999	B;B	0.31485	0.325;0.085	B;B	0.38106	0.265;0.042	T	0.69401	-0.5155	10	0.34782	T	0.22	-18.9248	14.3465	0.66668	0.0713:0.0:0.9287:0.0	.	520;493	E9PBP6;P55157	.;MTP_HUMAN	T	520;493;493;493	ENSP00000427679:A520T;ENSP00000400821:A493T;ENSP00000265517:A493T	ENSP00000265517:A493T	A	+	1	0	MTTP	100747060	1.000000	0.71417	0.081000	0.20488	0.796000	0.44982	4.559000	0.60796	1.323000	0.45263	0.655000	0.94253	GCA	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	G			100528037	1	no_errors	ENST00000265517	ensembl	human	known	70_37	missense	SNP	0.967	A	A	100528037	G	A	100528037	3	1	132	1	0	0	0	0	1	0	0	0	9987	1319	46	4	1519	4	MTTP	4	100528037	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		100528037	90626239	19	22244										
PHF17	79960	genome.wustl.edu	37	chr4	129782960	129782960	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gagaatgatgaagtcaagttCaagtcctattgcccaaagca	9	8	2	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr4:129782960C>T	ENST00000226319.6	+	9	1363	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PHF17_ENST00000413543.2_Silent_p.F361F|PHF17_ENST00000512960.1_Silent_p.F361F|PHF17_ENST00000452328.2_Silent_p.F349F|PHF17_ENST00000511647.1_Silent_p.F361F	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGTCAAGTTCAAGTCCTATT	0.552																																																	0													120	130	127					4																	129782960		2203	4300	6503	SO:0001819	synonymous_variant	79960																														ENST00000226319.6:c.1083C>T	4.37:g.129782960C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.F361	ENST00000226319.6	37	c.1083	CCDS34062.1	4																																																																																			PHF17	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.552	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	C			129782960	1	no_errors	ENST00000226319	ensembl	human	known	70_37	silent	SNP	1.000	T	T	129782960	C	T	129782960	2	4	132	1	0	0	0	0	0	0	0	1	11852	825	29	1		1	PHF17	4	129782960	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	29254923	129782960	61371316	20	22245										
LRRC14B	389257	genome.wustl.edu	37	chr5	191752	191752	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gacagcgtggcccacaacctCtacccactcctgttcaaagc	7	17	2	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:191752C>G	ENST00000328278.3	+	1	127	c.99C>G	c.(97-99)ctC>ctG	p.L33L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	33										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCACAACCTCTACCCACTCC	0.662																																																	0													20	23	22					5																	191752		2069	4216	6285	SO:0001819	synonymous_variant	389257				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.99C>G	5.37:g.191752C>G				Silent	SNP	NULL	p.L33	ENST00000328278.3	37	c.99	CCDS47184.1	5																																																																																			LRRC14B	-	NULL		0.662	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2	C	NM_001080478		191752	1	no_errors	ENST00000328278	ensembl	human	novel	70_37	silent	SNP	1.000	G	G	191752	C	G	191752	2	3	132	1	0	0	0	0	0	0	0	1	8992	900	32	1		1	LRRC14B	5	191752	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		191752	180723508	21	22246										
MYO10	4651	genome.wustl.edu	37	chr5	16755013	16755013	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ttgccattaaggaatgcagtGagtcctattagaaaaagtat	9	5	0	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:16755013G>A	ENST00000513610.1	-	19	2307	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	618	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGAATGCAGTGAGTCCTATTA	0.348																																																	0													58	56	57					5																	16755013		1938	4166	6104	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1853C>T	5.37:g.16755013G>A	ENSP00000421280:p.Ser618Leu		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.S618L	ENST00000513610.1	37	c.1853	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.304361	0.95601	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.74842	-0.88;-0.88	5.77	5.77	0.91146	Myosin head, motor domain (2);	.	.	.	.	D	0.91054	0.7185	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92999	0.6421	9	0.87932	D	0	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	259;618	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	618;629	ENSP00000421280:S618L;ENSP00000421309:S629L	ENSP00000421280:S618L	S	-	2	0	MYO10	16808013	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	9.625000	0.98406	2.724000	0.93272	0.561000	0.74099	TCA	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.348	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	G	NM_012334		16755013	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16755013	G	A	16755013	3	1	132	1	0	0	0	0	1	0	0	0	10085	1294	45	1	4415	1	MYO10	5	16755013	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	16563261	16755013	164160247	22	22247										
DNAJC21	134218	genome.wustl.edu	37	chr5	34950383	34950383	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aagaattggaagatagtcccCaggaaaatgtcagtgtcaca	10	7	2	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:34950383C>T	ENST00000342382.4	+	10	1521	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	DNAJC21_ENST00000382021.2_Nonsense_Mutation_p.Q477*|DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Nonsense_Mutation_p.Q445*			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	432					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGATAGTCCCCAGGAAAATGT	0.353																																																	0													92	88	90					5																	34950383		2203	4299	6502	SO:0001587	stop_gained	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1294C>T	5.37:g.34950383C>T	ENSP00000343728:p.Gln432*		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Nonsense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q477*	ENST00000342382.4	37	c.1429	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.607121	0.98387	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	.	.	.	5.15	5.15	0.70609	.	0.820943	0.10675	N	0.647115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.0325	15.6428	0.77020	0.0:1.0:0.0:0.0	.	.	.	.	X	432;477;445	.	ENSP00000306289:Q445X	Q	+	1	0	DNAJC21	34986140	0.928000	0.31464	0.980000	0.43619	0.709000	0.40893	1.762000	0.38451	2.677000	0.91161	0.585000	0.79938	CAG	DNAJC21	-	NULL		0.353	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	C	NM_194283		34950383	1	no_errors	ENST00000382021	ensembl	human	known	70_37	nonsense	SNP	0.971	T	T	34950383	C	T	34950383	4	4	132	1	0	0	0	0	0	1	0	0	4650	595	21	4	1471	4	DNAJC21	5	34950383	Nonsense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	18195370	34950383	145964877	23	22248										
HCN1	348980	genome.wustl.edu	37	chr5	45695897	45695897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tgaccccgggctgcagcatgGaggtgaactgcctctgcatg	14	12	1	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:45695897G>A	ENST00000303230.4	-	1	356	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	100	Involved in subunit assembly. {ECO:0000250}.		S -> F (in EIEE24; dominant-negative mutation resulting in gain of channel function). {ECO:0000269|PubMed:24747641}.		apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGCATGGAGGTGAACTG	0.667																																																	0													28	30	29					5																	45695897		2198	4284	6482	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.299C>T	5.37:g.45695897G>A	ENSP00000307342:p.Ser100Phe			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S100F	ENST00000303230.4	37	c.299	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854557	0.71719	.	.	ENSG00000164588	ENST00000303230	T	0.80304	-1.36	4.18	3.29	0.37713	Ion transport N-terminal (1);	0.000000	0.45867	D	0.000331	D	0.84051	0.5387	L	0.48642	1.525	0.45272	D	0.998271	P	0.48230	0.907	P	0.59825	0.864	D	0.85199	0.1014	10	0.87932	D	0	.	13.5105	0.61508	0.0:0.1583:0.8417:0.0	.	100	O60741	HCN1_HUMAN	F	100	ENSP00000307342:S100F	ENSP00000307342:S100F	S	-	2	0	HCN1	45731654	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.900000	0.56295	0.919000	0.36945	0.462000	0.41574	TCC	HCN1	-	pfam_Ion_trans_N		0.667	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	G	NM_021072		45695897	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45695897	G	A	45695897	3	1	132	1	0	0	0	0	1	0	0	0	7016	1174	41	1	2405	1	HCN1	5	45695897	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	10745514	45695897	135219363	24	22249										
ADAMTS19	171019	genome.wustl.edu	37	chr5	128994312	128994312	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gtcactctcttgttacagaaAgttggctgtgatggtttatt	10	6	2	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:128994312A>T	ENST00000274487.4	+	15	2434	c.2289A>T	c.(2287-2289)aaA>aaT	p.K763N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	763	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTTACAGAAAGTTGGCTGTG	0.353																																																	0													169	166	167					5																	128994312		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2289A>T	5.37:g.128994312A>T	ENSP00000274487:p.Lys763Asn			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K763N	ENST00000274487.4	37	c.2289	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110400	0.56398	.	.	ENSG00000145808	ENST00000274487	T	0.60424	0.19	3.89	-1.33	0.09172	.	0.069930	0.53938	D	0.000055	T	0.65091	0.2658	M	0.66297	2.02	0.41486	D	0.988194	D	0.89917	1.0	D	0.91635	0.999	T	0.61118	-0.7127	9	.	.	.	.	4.9202	0.13865	0.5532:0.0:0.3151:0.1317	.	763	Q8TE59	ATS19_HUMAN	N	763	ENSP00000274487:K763N	.	K	+	3	2	ADAMTS19	129022211	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	2.366000	0.44204	-0.226000	0.09899	0.528000	0.53228	AAA	ADAMTS19	-	prints_Peptidase_M12B_ADAM-TS		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	A	NM_133638		128994312	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	0.998	T	T	128994312	A	T	128994312	3	4	132	1	0	0	0	0	1	0	0	0	264	69	3	5	2347	5	ADAMTS19	5	128994312	Missense_Mutation	SNP	A	TCGA-FU-A3NI-01A-11D-A21Q-09	83298415	128994312	51920948	25	22250										
ADAMTS19	171019	genome.wustl.edu	37	chr5	129072808	129072808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tcagtggccagtgtactgccGagtgatacgtgaaaagaacc	12	9	1	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:129072808G>A	ENST00000274487.4	+	23	3666	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1174	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGTACTGCCGAGTGATACGT	0.478																																																	0													136	124	128					5																	129072808		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3521G>A	5.37:g.129072808G>A	ENSP00000274487:p.Arg1174Gln			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1174Q	ENST00000274487.4	37	c.3521	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207390	0.58343	.	.	ENSG00000145808	ENST00000274487	T	0.42131	0.98	4.12	4.12	0.48240	PLAC (2);	0.000000	0.52532	D	0.000072	T	0.39572	0.1083	N	0.14661	0.345	0.34972	D	0.753226	D	0.71674	0.998	P	0.60609	0.877	T	0.43426	-0.9392	9	.	.	.	.	11.2192	0.48844	0.0858:0.0:0.9142:0.0	.	1174	Q8TE59	ATS19_HUMAN	Q	1174	ENSP00000274487:R1174Q	.	R	+	2	0	ADAMTS19	129100707	0.990000	0.36364	1.000000	0.80357	0.574000	0.36063	3.173000	0.50839	2.599000	0.87857	0.650000	0.86243	CGA	ADAMTS19	-	pfam_PLAC,pfscan_PLAC		0.478	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		129072808	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	0.997	A	A	129072808	G	A	129072808	3	1	132	1	0	0	0	0	1	0	0	0	264	1058	37	1	3611	1	ADAMTS19	5	129072808	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	78496	129072808	51842452	26	22251										
PCDHA2	56146	genome.wustl.edu	37	chr5	140176333	140176333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gcacgtggtggcgaaggtgcGcgcagtggacgctgactcag	18	10	1	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:140176333G>A	ENST00000526136.1	+	1	1784	c.1784G>A	c.(1783-1785)cGc>cAc	p.R595H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R595H|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R595H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	595	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.677																																																	0													154	138	143					5																	140176333		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1784G>A	5.37:g.140176333G>A	ENSP00000431748:p.Arg595His		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R595H	ENST00000526136.1	37	c.1784	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	4.536	0.099567	0.08681	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52526	0.66;0.66;0.66	3.91	3.02	0.34903	Cadherin (4);Cadherin-like (1);	0.185145	0.26023	N	0.026806	T	0.29190	0.0726	N	0.20530	0.585	0.09310	N	1	B;B;B	0.32324	0.236;0.178;0.364	B;B;B	0.35550	0.046;0.077;0.205	T	0.12682	-1.0538	10	0.42905	T	0.14	.	4.298	0.10911	0.2843:0.1718:0.5439:0.0	.	595;595;595	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	595	ENSP00000430584:R595H;ENSP00000367372:R595H;ENSP00000431748:R595H	ENSP00000367372:R595H	R	+	2	0	PCDHA2	140156517	0.000000	0.05858	0.964000	0.40570	0.056000	0.15407	-0.413000	0.07123	0.743000	0.32719	0.549000	0.68633	CGC	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140176333	1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.002	A	A	140176333	G	A	140176333	3	1	132	1	0	0	0	0	1	0	0	0	11548	1087	38	2	1786	2	PCDHA2	5	140176333	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	11103525	140176333	40738927	27	22252										
HTR4	3360	genome.wustl.edu	37	chr5	147929786	147929786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	accgtcgagagaaacgtgagCagcaccaccttctccactga	9	14	1	3	rs201439456		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:147929786C>T	ENST00000377888.3	-	3	204	c.66G>A	c.(64-66)ctG>ctA	p.L22L	HTR4_ENST00000521735.1_Silent_p.L22L|HTR4_ENST00000314512.6_Silent_p.L22L|HTR4_ENST00000517929.1_Silent_p.L22L|HTR4_ENST00000354217.2_Silent_p.L22L|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521530.1_Silent_p.L22L|HTR4_ENST00000360693.3_Silent_p.L22L|HTR4_ENST00000520514.1_Silent_p.L22L|HTR4_ENST00000362016.2_Silent_p.L22L	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	22					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GAAACGTGAGCAGCACCACCT	0.522																																					GBM(120;370 1604 14007 17804 41573)												0													156	113	127					5																	147929786		2203	4300	6503	SO:0001819	synonymous_variant	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.66G>A	5.37:g.147929786C>T			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.L22	ENST00000377888.3	37	c.66	CCDS4291.1	5																																																																																			HTR4	-	prints_GPCR_Rhodpsn		0.522	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	C	NM_000870		147929786	-1	no_errors	ENST00000360693	ensembl	human	known	70_37	silent	SNP	1.000	T	T	147929786	C	T	147929786	2	4	132	1	0	0	0	0	0	0	0	1	7469	697	25	4		4	HTR4	5	147929786	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	7753453	147929786	32985474	28	22253										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834744	27834744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gccttgggcttggcaggactCttggttgcctttttcggttt	13	9	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr6:27834744C>G	ENST00000331442.3	-	1	615	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	188					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGGCAGGACTCTTGGTTGCCT	0.587																																																	0													76	75	75					6																	27834744		2203	4300	6503	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.564G>C	6.37:g.27834744C>G	ENSP00000330074:p.Lys188Asn		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K188N	ENST00000331442.3	37	c.564	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537741	0.27475	.	.	ENSG00000184357	ENST00000331442	T	0.20463	2.07	5.19	2.47	0.30058	.	0.053885	0.64402	D	0.000001	T	0.11024	0.0269	N	0.08118	0	0.58432	D	0.999992	D	0.69078	0.997	P	0.61397	0.888	T	0.11941	-1.0567	10	0.72032	D	0.01	-5.6055	9.7808	0.40647	0.0:0.709:0.0:0.291	.	188	P16401	H15_HUMAN	N	188	ENSP00000330074:K188N	ENSP00000330074:K188N	K	-	3	2	HIST1H1B	27942723	1.000000	0.71417	0.937000	0.37676	0.051000	0.14879	2.393000	0.44442	0.316000	0.23135	-0.136000	0.14681	AAG	HIST1H1B	-	NULL		0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834744	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27834744	C	G	27834744	3	3	132	1	0	0	0	0	1	0	0	0	7143	912	32	1	120	1	HIST1H1B	6	27834744	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		27834744	143280323	29	22254										
UTRN	7402	genome.wustl.edu	37	chr6	145051606	145051606	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cctgaagagccaagaagaaaCctacaatcaaaaacaggtga	8	9	1	5			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr6:145051606C>G	ENST00000367545.3	+	53	7923	c.7923C>G	c.(7921-7923)aaC>aaG	p.N2641K	UTRN_ENST00000367526.4_Missense_Mutation_p.N196K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2641					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)			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)		CAAGAAGAAACCTACAATCAA	0.418																																																	0													63	68	66					6																	145051606		2203	4300	6503	SO:0001583	missense	7402			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.7923C>G	6.37:g.145051606C>G	ENSP00000356515:p.Asn2641Lys		Q5SYY1|Q5SZ57|Q9UJ40	Missense_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.N2641K	ENST00000367545.3	37	c.7923	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	1.758	-0.487423	0.04352	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.60040	0.22;3.52	5.41	2.65	0.31530	.	0.185542	0.26460	N	0.024242	T	0.14442	0.0349	N	0.14661	0.345	0.35714	D	0.81658	B	0.02656	0.0	B	0.06405	0.002	T	0.16394	-1.0404	10	0.06099	T	0.92	.	10.8562	0.46800	0.0:0.7932:0.0:0.2068	.	2641	P46939	UTRO_HUMAN	K	2641;196	ENSP00000356515:N2641K;ENSP00000356496:N196K	ENSP00000356496:N196K	N	+	3	2	UTRN	145093299	0.672000	0.27530	0.173000	0.22940	0.901000	0.52897	1.197000	0.32211	0.270000	0.21984	-0.157000	0.13467	AAC	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.418	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145051606	1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	0.908	G	G	145051606	C	G	145051606	3	3	132	1	0	0	0	0	1	0	0	0	17134	506	18	4	8133	4	UTRN	6	145051606	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	117216862	145051606	26063461	30	22255										
MAGI2	9863	genome.wustl.edu	37	chr7	77789556	77789556	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ctgtggtgggtggatacagaGcctggacttctcccgttctc	13	11	2	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:77789556G>C	ENST00000354212.4	-	16	2884	c.2631C>G	c.(2629-2631)ggC>ggG	p.G877G	MAGI2_ENST00000419488.1_Silent_p.G863G|MAGI2_ENST00000522391.1_Silent_p.G877G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	877					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGATACAGAGCCTGGACTTC	0.537																																																	0													129	119	122					7																	77789556		2203	4300	6503	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2631C>G	7.37:g.77789556G>C			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.G877	ENST00000354212.4	37	c.2631	CCDS5594.1	7																																																																																			MAGI2	-	NULL		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	G	NM_012301		77789556	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	silent	SNP	1.000	C	C	77789556	G	C	77789556	2	2	132	1	0	0	0	0	0	0	0	1	9214	958	34	4		4	MAGI2	7	77789556	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		77789556	81349107	31	22256										
NRCAM	4897	genome.wustl.edu	37	chr7	107790405	107790405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	agaaggtgcctctgagctttCgtttccttcagccggctctt	10	12	3	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:107790405C>T	ENST00000425651.2	-	30	3864	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Missense_Mutation_p.E1165K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E1289K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E1177K|NRCAM_ENST00000351718.4_Missense_Mutation_p.E1168K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1289					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCTGAGCTTTCGTTTCCTTCA	0.413																																																	0													161	150	154					7																	107790405		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3865G>A	7.37:g.107790405C>T	ENSP00000401244:p.Glu1289Lys		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1289K	ENST00000425651.2	37	c.3865	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711616	0.89112	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651	T;T;T;T;T	0.59638	0.25;0.53;0.25;0.31;0.25	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	L	0.35414	1.06	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.99;1.0;0.995;0.999;0.96;0.997	D;P;D;P;D;B;D	0.87578	0.987;0.707;0.998;0.838;0.968;0.266;0.955	T	0.65768	-0.6088	10	0.42905	T	0.14	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1293;135;1165;1177;1168;1289;72	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2	.;.;.;.;.;NRCAM_HUMAN;.	K	1293;1289;1165;133;1168;1177;1289	ENSP00000368314:E1289K;ENSP00000407858:E1165K;ENSP00000325269:E1168K;ENSP00000368310:E1177K;ENSP00000401244:E1289K	ENSP00000325269:E1168K	E	-	1	0	NRCAM	107577641	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAA	NRCAM	-	NULL		0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107790405	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107790405	C	T	107790405	3	4	132	1	0	0	0	0	1	0	0	0	10668	893	31	1	53	1	NRCAM	7	107790405	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	30000849	107790405	51348258	32	22257										
CFTR	1080	genome.wustl.edu	37	chr7	117232394	117232394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ccttacaaatgaatggcatcGaagaggattctgatgagcct	10	8	1	4	rs199791061|rs121908787		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:117232394G>A	ENST00000003084.6	+	14	2305	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	CFTR_ENST00000454343.1_Missense_Mutation_p.E664K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	725					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAATGGCATCGAAGAGGATTC	0.438									Cystic Fibrosis				G|||	1	0.000199681	0	0	5008	,	,		21368	0		0.001	False		,,,				2504	0																0			GRCh37	CM983562	CFTR	M							59	54	56					7																	117232394		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2173G>A	7.37:g.117232394G>A	ENSP00000003084:p.Glu725Lys		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.E725K	ENST00000003084.6	37	c.2173	CCDS5773.1	7	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.540025	0.96474	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.96619	-4.07;-4.07;-4.07	5.52	4.64	0.57946	.	0.139919	0.64402	D	0.000005	D	0.96959	0.9007	M	0.78637	2.42	0.54753	D	0.999987	D	0.53462	0.96	P	0.52646	0.705	D	0.97047	0.9761	10	0.66056	D	0.02	-5.7337	14.6111	0.68517	0.0704:0.0:0.9296:0.0	.	725	P13569	CFTR_HUMAN	K	725;664;695	ENSP00000003084:E725K;ENSP00000403677:E664K;ENSP00000389119:E695K	ENSP00000003084:E725K	E	+	1	0	CFTR	117019630	1.000000	0.71417	0.033000	0.17914	0.688000	0.40055	6.799000	0.75160	1.464000	0.47987	0.563000	0.77884	GAA	CFTR	-	tigrfam_cAMP_cl_channel		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	G	NM_000492		117232394	1	no_errors	ENST00000003084	ensembl	human	known	70_37	missense	SNP	0.996	A	A	117232394	G	A	117232394	3	1	132	1	0	0	0	0	1	0	0	0	3299	1059	37	1	2227	1	CFTR	7	117232394	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	9441989	117232394	41906269	33	22258										
TSGA14	95681	genome.wustl.edu	37	chr7	130056775	130056775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cttacttttcttaatctcttCgagcttctcagtatatttag	4	9	3	0	rs138907207		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:130056775C>T	ENST00000223208.5	-	3	400	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Missense_Mutation_p.E44K	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	44					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TTAATCTCTTCGAGCTTCTCA	0.328																																																	0								C	LYS/GLU	0,4404		0,0,2202	117	114	115		130	5.7	1	7	dbSNP_134	115	3,8595	3.0+/-9.4	0,3,4296	yes	missense	CEP41	NM_018718.1	56	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	44/374	130056775	3,12999	2202	4299	6501	SO:0001583	missense	95681			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.130G>A	7.37:g.130056775C>T	ENSP00000223208:p.Glu44Lys		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E44K	ENST00000223208.5	37	c.130	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433560	0.83776	0.0	3.49E-4	ENSG00000106477	ENST00000223208;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282;ENST00000469826	D;D;D;D;D;D;T	0.89343	-2.5;-2.49;-2.37;-2.37;-2.4;-2.07;-1.37	5.71	5.71	0.89125	.	0.053859	0.64402	D	0.000001	D	0.94291	0.8166	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.975	D	0.94556	0.7758	10	0.72032	D	0.01	-26.7371	15.358	0.74443	0.0:1.0:0.0:0.0	.	44;44	Q9BYV8-2;Q9BYV8	.;CEP41_HUMAN	K	44;44;9;9;41;9;31	ENSP00000223208:E44K;ENSP00000342738:E44K;ENSP00000419192:E9K;ENSP00000417593:E9K;ENSP00000420670:E41K;ENSP00000418363:E9K;ENSP00000418712:E31K	ENSP00000223208:E44K	E	-	1	0	TSGA14	129844011	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.689000	0.61723	2.687000	0.91594	0.655000	0.94253	GAA	CEP41	-	NULL		0.328	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	C	NM_018718		130056775	-1	no_errors	ENST00000223208	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130056775	C	T	130056775	3	4	132	1	0	0	0	0	1	0	0	0	16651	893	31	1	1027	1	TSGA14	7	130056775	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	12824381	130056775	29081888	34	22259										
PLXNA4	91584	genome.wustl.edu	37	chr7	132193251	132193251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gagcttgtaaatccgattgaCggcccccaagtaaatgtgtc	10	10	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:132193251C>T	ENST00000359827.3	-	2	1164	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V68I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V68I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V68I			Q9HCM2	PLXA4_HUMAN	plexin A4	68	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATCCGATTGACGGCCCCCAAG	0.572																																																	0													57	61	60					7																	132193251		2203	4300	6503	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.202G>A	7.37:g.132193251C>T	ENSP00000352882:p.Val68Ile		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V68I	ENST00000359827.3	37	c.202	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164587	0.38217	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	U	0.000031	T	0.15782	0.0380	L	0.47016	1.485	0.80722	D	1	B;B;B	0.32324	0.314;0.364;0.115	B;B;B	0.42112	0.107;0.376;0.05	T	0.04855	-1.0922	10	0.30854	T	0.27	.	13.4581	0.61210	0.0:0.9247:0.0:0.0753	.	68;68;68	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	68	ENSP00000323194:V68I;ENSP00000352882:V68I;ENSP00000392772:V68I;ENSP00000367800:V68I	ENSP00000323194:V68I	V	-	1	0	PLXNA4	131843791	0.999000	0.42202	0.998000	0.56505	0.919000	0.55068	4.100000	0.57762	2.537000	0.85549	0.462000	0.41574	GTC	PLXNA4	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	C	NM_181775		132193251	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132193251	C	T	132193251	3	4	132	1	0	0	0	0	1	0	0	0	12146	536	19	2	5920	2	PLXNA4	7	132193251	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	2136476	132193251	26945412	35	22260										
ZNF746	155061	genome.wustl.edu	37	chr7	149171493	149171493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gctcacatgtccccgccatcGgtgggtcccaggacgctgag	13	15	1	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:149171493G>A	ENST00000340622.3	-	7	2197	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	ZNF746_ENST00000458143.2_Silent_p.T640T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	639					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCCCGCCATCGGTGGGTCCCA	0.652																																																	0													25	24	24					7																	149171493		2202	4296	6498	SO:0001819	synonymous_variant	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1917C>T	7.37:g.149171493G>A			A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T640	ENST00000340622.3	37	c.1920	CCDS5897.1	7																																																																																			ZNF746	-	NULL		0.652	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	G	NM_152557		149171493	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	silent	SNP	0.000	A	A	149171493	G	A	149171493	2	1	132	1	0	0	0	0	0	0	0	1	18159	1103	39	2		2	ZNF746	7	149171493	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	16978242	149171493	9967170	36	22261										
ZNF775	285971	genome.wustl.edu	37	chr7	150093838	150093838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gctggcaggccgggctcccgGgtcagcctccggccccctga	15	18	1	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:150093838G>A	ENST00000329630.5	+	3	376	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCTCCCGGGTCAGCCTCC	0.697																																																	0													7	10	9					7																	150093838		1907	4100	6007	SO:0001583	missense	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.269G>A	7.37:g.150093838G>A	ENSP00000330838:p.Gly90Glu		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G90E	ENST00000329630.5	37	c.269	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226470	0.09916	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.09163	3.76;3.01;3.14	4.07	0.922	0.19408	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	P	0.35328	0.495	B	0.28849	0.095	T	0.36065	-0.9763	9	0.06757	T	0.87	.	5.5362	0.17013	0.0:0.3081:0.3546:0.3373	.	90	Q96BV0	ZN775_HUMAN	E	90	ENSP00000419336:G90E;ENSP00000330838:G90E;ENSP00000417483:G90E	ENSP00000330838:G90E	G	+	2	0	ZNF775	149724771	0.018000	0.18449	0.002000	0.10522	0.183000	0.23260	0.567000	0.23608	0.023000	0.15187	0.555000	0.69702	GGG	ZNF775	-	NULL		0.697	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	G	NM_173680		150093838	1	no_errors	ENST00000329630	ensembl	human	known	70_37	missense	SNP	0.001	A	A	150093838	G	A	150093838	3	1	132	1	0	0	0	0	1	0	0	0	18178	1232	43	4	275	4	ZNF775	7	150093838	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	922345	150093838	9044825	37	22262										
MYOM2	9172	genome.wustl.edu	37	chr8	2037985	2037985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gagcgaaccttcggagataaCgtcccccattcaggcccagg	11	14	1	1	rs200560063		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr8:2037985C>T	ENST00000262113.4	+	15	1940	c.1799C>T	c.(1798-1800)aCg>aTg	p.T600M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T25M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	600	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGGAGATAACGTCCCCCATT	0.552													C|||	1	0.000199681	0	0	5008	,	,		18263	0.001		0	False		,,,				2504	0																0													113	88	97					8																	2037985		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1799C>T	8.37:g.2037985C>T	ENSP00000262113:p.Thr600Met		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T600M	ENST00000262113.4	37	c.1799	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801166	0.50315	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55052	0.54;0.54	5.6	5.6	0.85130	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.107467	0.64402	D	0.000009	T	0.79155	0.4398	M	0.90019	3.08	0.44500	D	0.997446	D	0.89917	1.0	D	0.76575	0.988	T	0.83121	-0.0118	10	0.87932	D	0	.	19.6185	0.95645	0.0:1.0:0.0:0.0	.	600	P54296	MYOM2_HUMAN	M	600;25	ENSP00000262113:T600M;ENSP00000428396:T25M	ENSP00000262113:T600M	T	+	2	0	MYOM2	2025392	1.000000	0.71417	0.108000	0.21378	0.009000	0.06853	6.507000	0.73717	2.641000	0.89580	0.462000	0.41574	ACG	MYOM2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	C	NM_003970		2037985	1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	0.963	T	T	2037985	C	T	2037985	3	4	132	1	0	0	0	0	1	0	0	0	10115	536	19	2	1853	2	MYOM2	8	2037985	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		2037985	144326037	38	22263										
COL22A1	169044	genome.wustl.edu	37	chr8	139606405	139606405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ccttgagatgacttcatgtaCgccgggggcatctgggccag	14	11	2	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr8:139606405C>T	ENST00000303045.6	-	63	4916	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A	COL22A1_ENST00000435777.1_Silent_p.A1470A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602										HNSCC(7;0.00092)																																							0													38	43	41					8																	139606405		2203	4300	6503	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4470G>A	8.37:g.139606405C>T			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A1490	ENST00000303045.6	37	c.4470	CCDS6376.1	8																																																																																			COL22A1	-	NULL		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139606405	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	silent	SNP	0.350	T	T	139606405	C	T	139606405	2	4	132	1	0	0	0	0	0	0	0	1	3686	523	19	2		2	COL22A1	8	139606405	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	137568420	139606405	6757617	39	22264										
CYLC2	1539	genome.wustl.edu	37	chr9	105767775	105767775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	acagtgactcaaaggatgatGtcaagaaagagtctaagaag	11	5	3	5			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr9:105767775G>A	ENST00000374798.3	+	5	932	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	CYLC2_ENST00000487798.1_Missense_Mutation_p.V288I	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	288	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGGATgatgtcaagaaaga	0.393																																																	0													89	85	86					9																	105767775		2203	4300	6503	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.862G>A	9.37:g.105767775G>A	ENSP00000420256:p.Val288Ile		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.V288I	ENST00000374798.3	37	c.862	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659846	0.14645	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14640	2.49;2.49	2.93	-2.12	0.07165	.	2.160320	0.02273	N	0.068649	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.23574	0.047	T	0.28038	-1.0056	10	0.38643	T	0.18	1.2591	2.6142	0.04899	0.4549:0.0:0.3334:0.2117	.	288	Q14093	CYLC2_HUMAN	I	288	ENSP00000420256:V288I;ENSP00000417674:V288I	ENSP00000420256:V288I	V	+	1	0	CYLC2	104807596	0.149000	0.22717	0.000000	0.03702	0.011000	0.07611	1.340000	0.33896	-0.455000	0.07054	0.305000	0.20034	GTC	CYLC2	-	NULL		0.393	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	G	NM_001340		105767775	1	no_errors	ENST00000374798	ensembl	human	putative	70_37	missense	SNP	0.000	A	A	105767775	G	A	105767775	3	1	132	1	0	0	0	0	1	0	0	0	4147	1377	48	4	880	4	CYLC2	9	105767775	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		105767775	35445656	40	22265										
PTER	9317	genome.wustl.edu	37	chr10	16526606	16526606	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aagaaaaccttcaattaaatCaggagacagaagccataaag	7	7	2	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:16526606C>T	ENST00000378000.1	+	3	469	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	PTER_ENST00000423462.2_Nonsense_Mutation_p.Q75*|PTER_ENST00000298942.3_Nonsense_Mutation_p.Q75*|PTER_ENST00000535784.2_Nonsense_Mutation_p.Q75*	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	75					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TCAATTAAATCAGGAGACAGA	0.403																																					Ovarian(2;46 150 15648 38137 47908)												0													57	65	62					10																	16526606		2203	4300	6503	SO:0001587	stop_gained	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.223C>T	10.37:g.16526606C>T	ENSP00000367239:p.Gln75*		B0YJ77|B3KTF5|D3DRU0|Q9BY46	Nonsense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.Q75*	ENST00000378000.1	37	c.223	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792369	0.70452	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	.	.	.	5.87	3.99	0.46301	.	0.096894	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.5041	16.8299	0.85941	0.0:0.7582:0.2418:0.0	.	.	.	.	X	75	.	ENSP00000298942:Q75X	Q	+	1	0	PTER	16566612	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	4.868000	0.63021	0.797000	0.33971	-0.165000	0.13383	CAG	PTER	-	pfam_Aryldialkylphosphatase		0.403	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	C	NM_030664		16526606	1	no_errors	ENST00000298942	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	16526606	C	T	16526606	4	4	132	1	0	0	0	0	0	1	0	0	12766	827	29	1	225	1	PTER	10	16526606	Nonsense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		16526606	119008141	41	22266										
ARMC4	55130	genome.wustl.edu	37	chr10	28250635	28250635	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	acagtttcctcaatcttttcAgcactcttcctaagaacaat	3	12	4	1	rs202113129	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:28250635A>C	ENST00000305242.5	-	10	1340	c.1248T>G	c.(1246-1248)gcT>gcG	p.A416A	ARMC4_ENST00000239715.3_Silent_p.A273A|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.A108A|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	416					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAATCTTTTCAGCACTCTTCC	0.453																																																	0													65	58	61					10																	28250635		2203	4297	6500	SO:0001819	synonymous_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1248T>G	10.37:g.28250635A>C			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.A416	ENST00000305242.5	37	c.1248	CCDS7157.1	10																																																																																			ARMC4	-	NULL		0.453	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	A	NM_018076		28250635	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	silent	SNP	0.002	C	C	28250635	A	C	28250635	2	2	132	1	0	0	0	0	0	0	0	1	954	175	7	5		5	ARMC4	10	28250635	Silent	SNP	A	TCGA-FU-A3NI-01A-11D-A21Q-09	11724029	28250635	107284112	42	22267										
SVIL	6840	genome.wustl.edu	37	chr10	29843713	29843713	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cacccagctccacgctcaccGatgtgggggctggcagggtc	14	15	1	0	rs540544541		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:29843713G>A	ENST00000355867.4	-	5	911	c.159C>T	c.(157-159)atC>atT	p.I53I	SVIL_ENST00000375398.2_Splice_Site_p.I53I|SVIL_ENST00000375400.3_Splice_Site_p.I53I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	53	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACGCTCACCGATGTGGGGGC	0.587													G|||	1	0.000199681	0	0	5008	,	,		16803	0		0	False		,,,				2504	0.001																0													22	23	23					10																	29843713		2203	4300	6503	SO:0001630	splice_region_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.160+1C>T	10.37:g.29843713G>A			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.I53	ENST00000355867.4	37	c.159	CCDS7164.1	10																																																																																			SVIL	-	NULL		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	G		Silent	29843713	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	0.000	A	A	29843713	G	A	29843713	5	1	132	1	0	0	0	0	0	0	1	0	15451	1072	37	1	6621	1	SVIL	10	29843713	Splice_Site	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	1593078	29843713	105691034	43	22268										
MAP4K2	5871	genome.wustl.edu	37	chr11	64567842	64567842	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cttggtcagggccagtttgaGaaagtggtggaaattctggg	16	5	2	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr11:64567842G>A	ENST00000294066.2	-	11	839	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.L250F	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCAGTTTGAGAAAGTGGTGG	0.602																																																	0													59	62	61					11																	64567842		2201	4297	6498	SO:0001583	missense	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.748C>T	11.37:g.64567842G>A	ENSP00000294066:p.Leu250Phe		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L250F	ENST00000294066.2	37	c.748	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617945	0.46736	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.70164	-0.46;-0.46;1.56	4.3	3.37	0.38596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178077	0.37095	N	0.002258	T	0.76241	0.3960	M	0.80332	2.49	0.37754	D	0.926066	P;D	0.55385	0.856;0.971	P;P	0.58331	0.78;0.837	T	0.79408	-0.1816	10	0.87932	D	0	.	7.7647	0.28972	0.0:0.1794:0.6353:0.1853	.	250;250	Q86VU3;Q12851	.;M4K2_HUMAN	F	250;250;206	ENSP00000294066:L250F;ENSP00000366567:L250F;ENSP00000403563:L206F	ENSP00000294066:L250F	L	-	1	0	MAP4K2	64324418	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	1.866000	0.39489	0.950000	0.37743	0.456000	0.33151	CTC	MAP4K2	-	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		0.602	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	G	NM_004579		64567842	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64567842	G	A	64567842	3	1	132	1	0	0	0	0	1	0	0	0	9283	942	33	1	1802	1	MAP4K2	11	64567842	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		64567842	70438674	44	22269										
DSCAML1	57453	genome.wustl.edu	37	chr11	117387317	117387317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	attctcaaacaccacctggcGgtggttgtctggcagcagca	11	12	2	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr11:117387317G>A	ENST00000321322.6	-	8	1829	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R340C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	550	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACCACCTGGCGGTGGTTGTCT	0.587																																																	0													95	76	82					11																	117387317		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1828C>T	11.37:g.117387317G>A	ENSP00000315465:p.Arg610Cys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R610C	ENST00000321322.6	37	c.1828	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489437	0.64074	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66638	-0.22;-0.22	4.1	3.15	0.36227	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84906	0.5576	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87483	0.2422	9	0.87932	D	0	.	11.2752	0.49163	0.0:0.0:0.6685:0.3315	.	550	Q8TD84	DSCL1_HUMAN	C	340;610;317	ENSP00000434335:R340C;ENSP00000315465:R610C	ENSP00000315465:R610C	R	-	1	0	DSCAML1	116892527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.415000	0.59809	1.017000	0.39495	0.462000	0.41574	CGC	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117387317	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117387317	G	A	117387317	3	1	132	1	0	0	0	0	1	0	0	0	4779	1116	39	2	4617	2	DSCAML1	11	117387317	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	52819475	117387317	17619199	45	22270										
DPPA3	359787	genome.wustl.edu	37	chr12	7868012	7868012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tgagatacatgttactcggcGgagttcgtacggtatgttga	13	6	0	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:7868012G>A	ENST00000345088.2	+	2	433	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	106					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GTTACTCGGCGGAGTTCGTAC	0.468																																																	0													151	119	129					12																	7868012		2203	4300	6503	SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.316G>A	12.37:g.7868012G>A	ENSP00000339250:p.Gly106Arg		Q0P5U3|Q6JZS6	Missense_Mutation	SNP	NULL	p.G106R	ENST00000345088.2	37	c.316	CCDS8582.1	12	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.190438	0.00302	.	.	ENSG00000187569	ENST00000345088	T	0.49139	0.79	1.48	-2.97	0.05530	.	.	.	.	.	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	9	0.08599	T	0.76	.	3.3384	0.07110	0.3342:0.2928:0.373:0.0	.	106	Q6W0C5	DPPA3_HUMAN	R	106	ENSP00000339250:G106R	ENSP00000339250:G106R	G	+	1	0	DPPA3	7759279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.176000	0.03099	-1.087000	0.03081	-0.605000	0.04089	GGA	DPPA3	-	NULL		0.468	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA3	HGNC	protein_coding	OTTHUMT00000399718.1	G	NM_199286		7868012	1	no_errors	ENST00000345088	ensembl	human	known	70_37	missense	SNP	0.000	A	A	7868012	G	A	7868012	3	1	132	1	0	0	0	0	1	0	0	0	4745	1117	39	2	322	2	DPPA3	12	7868012	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		7868012	125983883	46	22271										
KCNH3	23416	genome.wustl.edu	37	chr12	49951381	49951381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gacttggccccaccctcgtcCggggcctcctcccctcatgg	10	20	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:49951381C>T	ENST00000257981.6	+	15	3157	c.2897C>T	c.(2896-2898)cCg>cTg	p.P966L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	966	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCCTCGTCCGGGGCCTCCT	0.677																																																	0													48	48	48					12																	49951381		2203	4300	6503	SO:0001583	missense	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2897C>T	12.37:g.49951381C>T	ENSP00000257981:p.Pro966Leu		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.P966L	ENST00000257981.6	37	c.2897	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495942	0.64186	.	.	ENSG00000135519	ENST00000257981	D	0.99376	-5.79	4.88	4.88	0.63580	.	0.000000	0.41294	D	0.000904	D	0.95066	0.8402	N	0.08118	0	0.80722	D	1	P	0.40638	0.725	B	0.28139	0.086	D	0.95503	0.8579	10	0.25106	T	0.35	.	13.3951	0.60846	0.0:1.0:0.0:0.0	.	966	Q9ULD8	KCNH3_HUMAN	L	966	ENSP00000257981:P966L	ENSP00000257981:P966L	P	+	2	0	KCNH3	48237648	0.799000	0.28903	0.902000	0.35471	0.935000	0.57460	0.913000	0.28611	2.541000	0.85698	0.561000	0.74099	CCG	KCNH3	-	NULL		0.677	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	C	NM_012284		49951381	1	no_errors	ENST00000257981	ensembl	human	known	70_37	missense	SNP	0.948	T	T	49951381	C	T	49951381	3	4	132	1	0	0	0	0	1	0	0	0	8053	652	23	2	2955	2	KCNH3	12	49951381	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	42083369	49951381	83900514	47	22272										
HOXC4	3221	genome.wustl.edu	37	chr12	54447821	54447821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	acagtccggaatattacggcCggaccagggaatcgggattc	13	10	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:54447821C>T	ENST00000430889.2	+	1	161	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	HOXC4_ENST00000609810.1_Missense_Mutation_p.R39W|HOXC4_ENST00000303406.4_Missense_Mutation_p.R39W	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	39					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						ATATTACGGCCGGACCAGGGA	0.527																																																	0													128	135	133					12																	54447821		2203	4300	6503	SO:0001583	missense	3221				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.115C>T	12.37:g.54447821C>T	ENSP00000399808:p.Arg39Trp			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R39W	ENST00000430889.2	37	c.115	CCDS8873.1	12	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893754	0.72639	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.83837	-1.77;-1.77	3.41	3.41	0.39046	.	0.229541	0.35615	N	0.003096	D	0.84428	0.5470	M	0.87381	2.88	0.58432	D	0.999999	B	0.18741	0.03	B	0.09377	0.004	D	0.85659	0.1287	10	0.66056	D	0.02	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	39	P09017	HXC4_HUMAN	W	39	ENSP00000305973:R39W;ENSP00000399808:R39W	ENSP00000305973:R39W	R	+	1	2	HOXC4	52734088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.329000	0.43876	2.187000	0.69744	0.462000	0.41574	CGG	HOXC4	-	NULL		0.527	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	HGNC	protein_coding	OTTHUMT00000358963.1	C			54447821	1	no_errors	ENST00000303406	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54447821	C	T	54447821	3	4	132	1	0	0	0	0	1	0	0	0	7333	643	23	2	117	2	HOXC4	12	54447821	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	4496440	54447821	79404074	48	22273										
MSRB3	253827	genome.wustl.edu	37	chr12	65857049	65857049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cggatagcagtggcaccgccGagggaggcagtggggtcgcc	19	11	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:65857049G>A	ENST00000355192.3	+	6	652	c.526G>A	c.(526-528)Gag>Aag	p.E176K	MSRB3_ENST00000308259.5_Missense_Mutation_p.E169K|MSRB3_ENST00000535664.1_Missense_Mutation_p.E169K	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	176					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.E169K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGGCACCGCCGAGGGAGGCAG	0.527																																																	1	Substitution - Missense(1)	central_nervous_system(1)											65	60	62					12																	65857049		2203	4300	6503	SO:0001583	missense	253827			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.526G>A	12.37:g.65857049G>A	ENSP00000347324:p.Glu176Lys		B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB	p.E176K	ENST00000355192.3	37	c.526	CCDS8973.1	12	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157256	0.21454	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	1.72	0.24424	.	2.179660	0.01771	N	0.031212	T	0.51907	0.1702	L	0.33245	0.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24584	-1.0156	9	.	.	.	-27.9321	7.4735	0.27363	0.1387:0.257:0.6043:0.0	.	176;169	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	K	176;169;169	ENSP00000347324:E176K;ENSP00000312274:E169K;ENSP00000441650:E169K	.	E	+	1	0	MSRB3	64143316	0.001000	0.12720	0.000000	0.03702	0.189000	0.23516	1.024000	0.30077	0.410000	0.25675	0.655000	0.94253	GAG	MSRB3	-	NULL		0.527	MSRB3-001	KNOWN	basic|CCDS	protein_coding	MSRB3	HGNC	protein_coding	OTTHUMT00000401421.1	G	NM_198080		65857049	1	no_errors	ENST00000355192	ensembl	human	known	70_37	missense	SNP	0.001	A	A	65857049	G	A	65857049	3	1	132	1	0	0	0	0	1	0	0	0	9912	1059	37	1	628	1	MSRB3	12	65857049	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	11409228	65857049	67994846	49	22274										
PTPRR	5801	genome.wustl.edu	37	chr12	71050540	71050540	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tccacaactccttcttctttCagctgttgacagccaatgga	6	13	3	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:71050540C>T	ENST00000283228.2	-	13	2276	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	PTPRR_ENST00000378778.1_Silent_p.L402L|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Silent_p.L363L|PTPRR_ENST00000549308.1_Silent_p.L363L|PTPRR_ENST00000342084.4_Silent_p.L496L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	608	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTCTTCTTTCAGCTGTTGAC	0.418																																																	0													221	180	194					12																	71050540		2203	4300	6503	SO:0001819	synonymous_variant	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1824G>A	12.37:g.71050540C>T			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.L608	ENST00000283228.2	37	c.1824	CCDS8998.1	12																																																																																			PTPRR	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con		0.418	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	C	NM_002849		71050540	-1	no_errors	ENST00000283228	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71050540	C	T	71050540	2	4	132	1	0	0	0	0	0	0	0	1	12840	813	29	1		1	PTPRR	12	71050540	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	5193491	71050540	62801355	50	22275										
CCDC41	51134	genome.wustl.edu	37	chr12	94729391	94729391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	taggtcagaattttcattttTttccttctctgcattttcaa	4	8	4	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:94729391T>C	ENST00000397809.5	-	12	1942	c.1393A>G	c.(1393-1395)Aaa>Gaa	p.K465E	CCDC41_ENST00000397807.2_Missense_Mutation_p.K432E|CCDC41_ENST00000339839.5_Missense_Mutation_p.K465E	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		457					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTTCATTTTTTTCCTTCTCT	0.269																																																	0													100	90	93					12																	94729391		1785	4054	5839	SO:0001583	missense	51134																														ENST00000397809.5:c.1393A>G	12.37:g.94729391T>C	ENSP00000380911:p.Lys465Glu		A4FVB1|Q08AP1	Missense_Mutation	SNP	NULL	p.K465E	ENST00000397809.5	37	c.1393	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682699	0.88542	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.99;1.99;0.6	5.98	5.98	0.97165	.	.	.	.	.	T	0.63260	0.2496	L	0.59436	1.845	0.40539	D	0.981002	D;D	0.55385	0.971;0.971	P;P	0.55749	0.783;0.654	T	0.63274	-0.6674	9	0.38643	T	0.18	-29.733	15.2968	0.73916	0.0:0.0:0.0:1.0	.	432;457	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	E	465;465;432	ENSP00000344655:K465E;ENSP00000380911:K465E;ENSP00000380909:K432E	ENSP00000344655:K465E	K	-	1	0	CCDC41	93253522	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.086000	0.64474	2.296000	0.77279	0.482000	0.46254	AAA	CCDC41	-	NULL		0.269	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408147.3	T			94729391	-1	no_errors	ENST00000339839	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94729391	T	C	94729391	3	2	132	1	0	0	0	0	1	0	0	0	2818	1850	64	5	736	5	CCDC41	12	94729391	Missense_Mutation	SNP	T	TCGA-FU-A3NI-01A-11D-A21Q-09	23678851	94729391	39122504	51	22276										
GNPTAB	79158	genome.wustl.edu	37	chr12	102159990	102159991	+	Missense_Mutation	DNP	TC	TC	AA													0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	taagagacactgtttattccTccaccaaactgccagggctg							TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:102159990_102159991TC>AA	ENST00000299314.7	-	12	1752_1753	c.1490_1491GA>TT	c.(1489-1491)gGA>gTT	p.G497V	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	497	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGTTTATTCCTCCACCAAACTG	0.495																																																	0																																										SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1490_1491delinsAA	12.37:g.102159990_102159991delinsAA	ENSP00000299314:p.Gly497Val		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent|Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.G497|p.G497V	ENST00000299314.7	37	c.1491|c.1490	CCDS9088.1	12																																																																																			GNPTAB	-	NULL		0.495	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	T|C			102159990|102159991	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	silent|missense	SNP	0.992	A	AA	102159991	TC	AA	102159990	3	1	132	1	0	0	0	0	1	0	0	0	6564	1538	54	5	2319	5	GNPTAB	12	102159990	Missense_Mutation	DNP	TC	TCGA-FU-A3NI-01A-11D-A21Q-09	7430599	102159990	31691905	52	22277										
FOXN4	121643	genome.wustl.edu	37	chr12	109728038	109728038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	catccaccgccgtgagccacGacagcgactgcaggtccccg	11	18	0	1	rs376144049		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:109728038G>A	ENST00000299162.5	-	3	244	c.140C>T	c.(139-141)tCg>tTg	p.S47L	FOXN4_ENST00000355216.1_Intron	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	47					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CGTGAGCCACGACAGCGACTG	0.657																																																	0								G	LEU/SER	0,1384		0,0,692	19	29	26		140	2.1	0.8	12		26	1,3181		0,1,1590	no	missense	FOXN4	NM_213596.2	145	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	probably-damaging	47/518	109728038	1,4565	692	1591	2283	SO:0001583	missense	121643			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.140C>T	12.37:g.109728038G>A	ENSP00000299162:p.Ser47Leu		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S47L	ENST00000299162.5	37	c.140	CCDS9126.2	12	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087657	0.55968	0.0	3.14E-4	ENSG00000139445	ENST00000266856;ENST00000299162	D	0.95342	-3.68	3.93	2.07	0.26955	.	.	.	.	.	D	0.95522	0.8545	L	0.59436	1.845	0.54753	D	0.999981	D	0.89917	1.0	D	0.80764	0.994	D	0.93878	0.7168	9	0.87932	D	0	.	8.9384	0.35713	0.186:0.0:0.814:0.0	.	47	Q96NZ1	FOXN4_HUMAN	L	47	ENSP00000299162:S47L	ENSP00000266856:S47L	S	-	2	0	FOXN4	108212421	1.000000	0.71417	0.771000	0.31576	0.979000	0.70002	7.321000	0.79088	0.277000	0.22141	0.561000	0.74099	TCG	FOXN4	-	NULL		0.657	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN4	HGNC	protein_coding	OTTHUMT00000328306.1	G	XM_062735		109728038	-1	no_errors	ENST00000299162	ensembl	human	known	70_37	missense	SNP	0.982	A	A	109728038	G	A	109728038	3	1	132	1	0	0	0	0	1	0	0	0	6040	1059	37	1	1445	1	FOXN4	12	109728038	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	7568048	109728038	24123857	53	22278										
MYO1H	283446	genome.wustl.edu	37	chr12	109838973	109838973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tctaccaaaacgaaggcgagCggaatttccacatcttctac	7	12	3	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:109838973C>T	ENST00000431443.2	+	5	598	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	MYO1H_ENST00000310903.5_Missense_Mutation_p.R200W	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	200	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CGAAGGCGAGCGGAATTTCCA	0.507																																																	0													59	63	62					12																	109838973		2069	4209	6278	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.598C>T	12.37:g.109838973C>T	ENSP00000444076:p.Arg200Trp		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R200W	ENST00000431443.2	37	c.598		12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371681	0.61624	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.94138	-3.36;-3.36	4.5	3.56	0.40772	.	.	.	.	.	D	0.98090	0.9370	H	0.99573	4.635	0.44234	D	0.997073	D	0.89917	1.0	D	0.97110	1.0	D	0.97672	1.0167	9	0.87932	D	0	.	11.3992	0.49860	0.5437:0.4563:0.0:0.0	.	200	F5H3C6	.	W	200	ENSP00000439182:R200W;ENSP00000444076:R200W	ENSP00000439182:R200W	R	+	1	2	MYO1H	108323356	1.000000	0.71417	0.990000	0.47175	0.507000	0.33981	2.658000	0.46733	0.896000	0.36366	0.650000	0.86243	CGG	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.507	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		C	NM_173597		109838973	1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109838973	C	T	109838973	3	4	132	1	0	0	0	0	1	0	0	0	10098	759	27	2	616	2	MYO1H	12	109838973	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	110935	109838973	24012922	54	22279										
SRRM4	84530	genome.wustl.edu	37	chr12	119563259	119563259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cgcggtcccagagctcggagTcccgcccctcaagctgtgag	13	16	1	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:119563259T>C	ENST00000267260.4	+	7	977	c.589T>C	c.(589-591)Tcc>Ccc	p.S197P	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	197	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGCTCGGAGTCCCGCCCCTC	0.622																																																	0													40	50	47					12																	119563259		2050	4180	6230	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.589T>C	12.37:g.119563259T>C	ENSP00000267260:p.Ser197Pro		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.S197P	ENST00000267260.4	37	c.589	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143861	0.57044	.	.	ENSG00000139767	ENST00000267260	T	0.27256	1.68	5.66	1.97	0.26223	.	0.632299	0.15742	N	0.246863	T	0.18341	0.0440	L	0.40543	1.245	0.20638	N	0.999875	P	0.40794	0.729	B	0.41988	0.372	T	0.09574	-1.0668	10	0.22706	T	0.39	-5.1287	3.8053	0.08774	0.1573:0.1789:0.0:0.6637	.	197	A7MD48	SRRM4_HUMAN	P	197	ENSP00000267260:S197P	ENSP00000267260:S197P	S	+	1	0	SRRM4	118047642	0.281000	0.24258	0.853000	0.33588	0.978000	0.69477	1.286000	0.33273	0.411000	0.25702	0.533000	0.62120	TCC	SRRM4	-	NULL		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	T	NM_194286		119563259	1	no_errors	ENST00000267260	ensembl	human	known	70_37	missense	SNP	0.779	C	C	119563259	T	C	119563259	3	2	132	1	0	0	0	0	1	0	0	0	15201	1667	58	5	615	5	SRRM4	12	119563259	Missense_Mutation	SNP	T	TCGA-FU-A3NI-01A-11D-A21Q-09	9724286	119563259	14288636	55	22280										
KCNRG	283518	genome.wustl.edu	37	chr13	50594391	50594391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	taaccgaaaattggccaacgGaacaaatgtcctcggcttac	8	11	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr13:50594391G>A	ENST00000312942.1	+	2	860	c.620G>A	c.(619-621)gGa>gAa	p.G207E	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	207					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTGGCCAACGGAACAAATGTC	0.353																																																	0													77	74	75					13																	50594391		2203	4300	6503	SO:0001583	missense	283518				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.620G>A	13.37:g.50594391G>A	ENSP00000324191:p.Gly207Glu		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.G207E	ENST00000312942.1	37	c.620	CCDS9424.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485651	0.84854	.	.	ENSG00000198553	ENST00000312942	T	0.68903	-0.36	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.74688	0.3749	L	0.34521	1.04	0.49213	D	0.999764	D	0.89917	1.0	D	0.91635	0.999	T	0.70669	-0.4808	10	0.27785	T	0.31	.	19.3764	0.94512	0.0:0.0:1.0:0.0	.	207	Q8N5I3	KCNRG_HUMAN	E	207	ENSP00000324191:G207E	ENSP00000324191:G207E	G	+	2	0	KCNRG	49492392	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.412000	0.80091	2.596000	0.87737	0.557000	0.71058	GGA	KCNRG	-	NULL		0.353	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNRG	HGNC	protein_coding	OTTHUMT00000276308.1	G			50594391	1	no_errors	ENST00000312942	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50594391	G	A	50594391	3	1	132	1	0	0	0	0	1	0	0	0	8107	1174	41	1	728	1	KCNRG	13	50594391	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		50594391	64575487	56	22281										
LIG4	3981	genome.wustl.edu	37	chr13	108861664	108861664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	atattagaaattttgttaacGttagtaaggttaggtgcttt	9	2	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr13:108861664G>A	ENST00000356922.4	-	2	2225	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	LIG4_ENST00000405925.1_Silent_p.N651N|LIG4_ENST00000442234.1_Silent_p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	651					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGTTAACGTTAGTAAGGT	0.373								Non-homologous end-joining																																									0													69	70	70					13																	108861664		2202	4300	6502	SO:0001819	synonymous_variant	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1953C>T	13.37:g.108861664G>A			Q8IY66|Q8TEU5	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.N651	ENST00000356922.4	37	c.1953	CCDS9508.1	13																																																																																			LIG4	-	superfamily_BRCT_dom		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108861664	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	silent	SNP	0.000	A	A	108861664	G	A	108861664	2	1	132	1	0	0	0	0	0	0	0	1	8803	1136	40	2		2	LIG4	13	108861664	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	58267273	108861664	6308214	57	22282										
ABHD13	84945	genome.wustl.edu	37	chr13	108882391	108882391	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	caattaattccaccagtaatGatgaaacaactttatgaact	4	8	0	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr13:108882391G>C	ENST00000375898.3	+	2	1126	c.825G>C	c.(823-825)atG>atC	p.M275I		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	275						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CACCAGTAATGATGAAACAAC	0.388																																					Pancreas(22;506 789 38166 45896 51596)												0													94	95	95					13																	108882391		2203	4299	6502	SO:0001583	missense	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.825G>C	13.37:g.108882391G>C	ENSP00000365063:p.Met275Ile		B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AXE1	p.M275I	ENST00000375898.3	37	c.825	CCDS32007.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034974	0.75617	.	.	ENSG00000139826	ENST00000375898	T	0.21734	1.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.27773	-1.0064	10	0.27082	T	0.32	-25.5793	19.5254	0.95203	0.0:0.0:1.0:0.0	.	275	Q7L211	ABHDD_HUMAN	I	275	ENSP00000365063:M275I	ENSP00000365063:M275I	M	+	3	0	ABHD13	107680392	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.745000	0.98856	2.857000	0.98124	0.650000	0.86243	ATG	ABHD13	-	NULL		0.388	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD13	HGNC	protein_coding	OTTHUMT00000045743.1	G	NM_032859		108882391	1	no_errors	ENST00000375898	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108882391	G	C	108882391	3	2	132	1	0	0	0	0	1	0	0	0	78	1290	45	1	827	1	ABHD13	13	108882391	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	20727	108882391	6287487	58	22283										
C14orf135	64430	genome.wustl.edu	37	chr14	60591234	60591234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gcctggcatgaaagagaatgTtcacaacactgaaaataaag	9	7	1	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:60591234T>C	ENST00000406854.1	+	9	2899	c.2345T>C	c.(2344-2346)gTt>gCt	p.V782A	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V782A|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V548A|PCNXL4_ENST00000406949.1_Missense_Mutation_p.V548A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	782						integral component of membrane (GO:0016021)											AAAGAGAATGTTCACAACACT	0.383																																																	0													106	114	111					14																	60591234		2203	4299	6502	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2345T>C	14.37:g.60591234T>C	ENSP00000384801:p.Val782Ala		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.V782A	ENST00000406854.1	37	c.2345		14	.	.	.	.	.	.	.	.	.	.	T	8.142	0.785455	0.16189	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.23147	1.93;1.92;1.92;1.92	5.3	2.93	0.34026	.	1.498590	0.03257	N	0.182706	T	0.22322	0.0538	L	0.29908	0.895	0.19775	N	0.999956	B;B	0.26318	0.011;0.146	B;B	0.22152	0.002;0.038	T	0.26121	-1.0112	10	0.44086	T	0.13	.	8.5655	0.33536	0.0:0.2952:0.0:0.7048	.	782;548	Q63HM2;B5MC47	CN135_HUMAN;.	A	548;782;548;782	ENSP00000317396:V548A;ENSP00000384801:V782A;ENSP00000385201:V548A;ENSP00000385713:V782A	ENSP00000317396:V548A	V	+	2	0	C14orf135	59660987	0.000000	0.05858	0.043000	0.18650	0.535000	0.34838	0.475000	0.22164	0.410000	0.25675	0.528000	0.53228	GTT	PCNXL4	-	NULL		0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	T	NM_022495		60591234	1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	0.004	C	C	60591234	T	C	60591234	3	2	132	1	0	0	0	0	1	0	0	0	1749	1725	60	5	1669	5	C14orf135	14	60591234	Missense_Mutation	SNP	T	TCGA-FU-A3NI-01A-11D-A21Q-09		60591234	46758306	59	22284										
TMEM30B	161291	genome.wustl.edu	37	chr14	61747570	61747570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cctggaagagctcgggcagcGagaagtaccaggcgcacgag	16	11	0	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:61747570G>A	ENST00000555868.1	-	1	988	c.296C>T	c.(295-297)tCg>tTg	p.S99L	TMEM30B_ENST00000355702.2_Missense_Mutation_p.S99L|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	99					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CTCGGGCAGCGAGAAGTACCA	0.687																																																	0													9	9	9					14																	61747570		2117	4138	6255	SO:0001583	missense	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.296C>T	14.37:g.61747570G>A	ENSP00000450842:p.Ser99Leu		B3KR84|Q14D00	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.S99L	ENST00000555868.1	37	c.296	CCDS32093.1	14	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309973	0.60414	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.72	4.72	0.59763	.	0.843089	0.10165	N	0.707841	T	0.53546	0.1803	M	0.62723	1.935	0.30087	N	0.808664	B	0.31879	0.344	B	0.32090	0.14	T	0.53136	-0.8481	9	0.34782	T	0.22	-23.4461	15.2782	0.73760	0.0:0.0:1.0:0.0	.	99	Q3MIR4	CC50B_HUMAN	L	99	.	ENSP00000347930:S99L	S	-	2	0	TMEM30B	60817323	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.018000	0.40991	2.460000	0.83146	0.650000	0.86243	TCG	TMEM30B	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.687	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30B	HGNC	protein_coding	OTTHUMT00000413358.1	G	XM_090844		61747570	-1	no_errors	ENST00000355702	ensembl	human	known	70_37	missense	SNP	0.999	A	A	61747570	G	A	61747570	3	1	132	1	0	0	0	0	1	0	0	0	16184	1059	37	1	763	1	TMEM30B	14	61747570	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	1156336	61747570	45601970	60	22285										
JAG2	3714	genome.wustl.edu	37	chr14	105618303	105618303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cagttcctgcccgagtagccGtcagggcaggtgcagcggta	15	12	1	0	rs369610323		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:105618303G>A	ENST00000331782.3	-	7	1414	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D337D	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	337	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCGAGTAGCCGTCAGGGCAGG	0.662																																																	0									,	1,4405	2.1+/-5.4	0,1,2202	49	51	51		1011,1011	-2.6	0.4	14		51	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	337/1239,337/1201	105618303	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1011C>T	14.37:g.105618303G>A			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.D337	ENST00000331782.3	37	c.1011	CCDS9998.1	14																																																																																			JAG2	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	G			105618303	-1	no_errors	ENST00000331782	ensembl	human	known	70_37	silent	SNP	0.725	A	A	105618303	G	A	105618303	2	1	132	1	0	0	0	0	0	0	0	1	7955	1136	40	2		2	JAG2	14	105618303	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	43870733	105618303	1731237	61	22286										
PACS2	23241	genome.wustl.edu	37	chr14	105848292	105848292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ccgacggggccggagcacatCcttgaaggagcggcaggcag	17	12	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:105848292C>T	ENST00000325438.8	+	13	1814	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	PACS2_ENST00000458164.2_Missense_Mutation_p.S437F|PACS2_ENST00000430725.2_Missense_Mutation_p.S362F|PACS2_ENST00000447393.1_Missense_Mutation_p.S437F|PACS2_ENST00000547217.1_Missense_Mutation_p.S407F|PACS2_ENST00000551743.1_5'Flank			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	437					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGGAGCACATCCTTGAAGGAG	0.672																																																	0													22	21	21					14																	105848292		2103	4136	6239	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1310C>T	14.37:g.105848292C>T	ENSP00000321834:p.Ser437Phe		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S437F	ENST00000325438.8	37	c.1310	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537066	0.65085	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.25749	1.81;1.81;1.78;1.78;1.8	4.71	4.71	0.59529	.	0.059585	0.64402	D	0.000001	T	0.48314	0.1493	L	0.59436	1.845	0.80722	D	1	P;P;P;D	0.76494	0.937;0.544;0.936;0.999	P;B;P;D	0.85130	0.612;0.234;0.547;0.997	T	0.50242	-0.8851	10	0.72032	D	0.01	-3.4309	16.5659	0.84599	0.0:1.0:0.0:0.0	.	437;437;437;438	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	F	362;437;437;437;407	ENSP00000393524:S362F;ENSP00000321834:S437F;ENSP00000399732:S437F;ENSP00000393559:S437F;ENSP00000449525:S407F	ENSP00000321834:S437F	S	+	2	0	PACS2	104919337	1.000000	0.71417	0.864000	0.33941	0.298000	0.27526	7.520000	0.81821	2.314000	0.78098	0.650000	0.86243	TCC	PACS2	-	NULL		0.672	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	C	XM_377355		105848292	1	no_errors	ENST00000458164	ensembl	human	known	70_37	missense	SNP	0.994	T	T	105848292	C	T	105848292	3	4	132	1	0	0	0	0	1	0	0	0	11397	855	30	1	1360	1	PACS2	14	105848292	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	229989	105848292	1501248	62	22287										
ATP10A	57194	genome.wustl.edu	37	chr15	26108099	26108099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	acacccgcgccgccgtcgccGctcgcccttggccgcgccag	12	22	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:26108099G>A	ENST00000356865.6	-	1	256	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	ATP10A_ENST00000553577.1_5'Flank|RP11-2C7.1_ENST00000557558.1_lincRNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	49					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGCCGTCGCCGCTCGCCCTTG	0.726																																																	0													15	15	15					15																	26108099		2177	4253	6430	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.145C>T	15.37:g.26108099G>A	ENSP00000349325:p.Arg49Trp		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R49W	ENST00000356865.6	37	c.145	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133044	0.56828	.	.	ENSG00000206190	ENST00000356865	T	0.48201	0.82	3.42	1.28	0.21552	.	2.444050	0.01718	U	0.028121	T	0.36690	0.0976	L	0.31926	0.97	0.20563	N	0.999881	B	0.13145	0.007	B	0.04013	0.001	T	0.16928	-1.0386	10	0.38643	T	0.18	.	3.7759	0.08660	0.2591:0.0:0.5443:0.1966	.	49	O60312	AT10A_HUMAN	W	49	ENSP00000349325:R49W	ENSP00000349325:R49W	R	-	1	2	ATP10A	23659192	0.988000	0.35896	0.182000	0.23118	0.885000	0.51271	0.449000	0.21744	0.641000	0.30601	0.456000	0.33151	CGG	ATP10A	-	NULL		0.726	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		26108099	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	0.039	A	A	26108099	G	A	26108099	3	1	132	1	0	0	0	0	1	0	0	0	1117	1086	38	2	4438	2	ATP10A	15	26108099	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		26108099	76423293	63	22288										
DPP8	54878	genome.wustl.edu	37	chr15	65759495	65759495	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gtaactgactacgtacaggtGatgctctaaaggggagtctt	12	7	2	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:65759495G>A	ENST00000341861.5	-	13	3231	c.1651C>T	c.(1651-1653)Cac>Tac	p.H551Y	DPP8_ENST00000300141.6_Missense_Mutation_p.H535Y|DPP8_ENST00000339244.5_Missense_Mutation_p.H378Y|DPP8_ENST00000358939.4_Missense_Mutation_p.H535Y|DPP8_ENST00000321118.7_Missense_Mutation_p.H551Y|DPP8_ENST00000559233.1_Missense_Mutation_p.H551Y|DPP8_ENST00000321147.6_Missense_Mutation_p.H551Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	551					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACGTACAGGTGATGCTCTAAA	0.433																																																	0													122	113	116					15																	65759495		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1651C>T	15.37:g.65759495G>A	ENSP00000339208:p.His551Tyr		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.H551Y	ENST00000341861.5	37	c.1651	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744571	0.69418	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.56	5.56	0.83823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.89095	3.005	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.951;0.989;0.982;0.961	D;P;D;P;P	0.87578	0.998;0.712;0.979;0.799;0.81	T	0.71490	-0.4577	10	0.87932	D	0	-6.1168	19.5213	0.95185	0.0:0.0:1.0:0.0	.	378;535;535;551;551	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	Y	551;535;535;551;551;378;551	ENSP00000339208:H551Y;ENSP00000351817:H535Y;ENSP00000300141:H535Y;ENSP00000318111:H551Y;ENSP00000316373:H551Y;ENSP00000341230:H378Y;ENSP00000379013:H551Y	ENSP00000300141:H535Y	H	-	1	0	DPP8	63546548	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.613000	0.98350	2.602000	0.87976	0.467000	0.42956	CAC	DPP8	-	pfam_Peptidase_S9B		0.433	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65759495	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65759495	G	A	65759495	3	1	132	1	0	0	0	0	1	0	0	0	4742	1290	45	1	1077	1	DPP8	15	65759495	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	39651396	65759495	36771897	64	22289										
LBXCOR1	390598	genome.wustl.edu	37	chr15	68126105	68126105	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cacgacgccctgcaccatttCtcctgcaagatgctgacgcc	8	17	1	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:68126105C>T	ENST00000380035.2	+	9	2887	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Silent_p.F846F|SKOR1_ENST00000554054.1_Silent_p.F915F|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Silent_p.F899F|SKOR1_ENST00000554240.1_Silent_p.F904F			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	943					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TGCACCATTTCTCCTGCAAGA	0.672											OREG0023216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93	86	88					15																	68126105		2200	4298	6498	SO:0001819	synonymous_variant	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2829C>T	15.37:g.68126105C>T		1104	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.F943	ENST00000380035.2	37	c.2829		15																																																																																			SKOR1	-	NULL		0.672	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	C	NM_001031807		68126105	1	no_errors	ENST00000380035	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68126105	C	T	68126105	2	4	132	1	0	0	0	0	0	0	0	1	8675	912	32	1		1	LBXCOR1	15	68126105	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	2366610	68126105	34405287	65	22290										
ARNT2	9915	genome.wustl.edu	37	chr15	80762742	80762742	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gggaacaagtccaccgatggCgcgtacaagccttccttcct	10	14	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:80762742C>A	ENST00000303329.4	+	4	543	c.378C>A	c.(376-378)ggC>ggA	p.G126G	ARNT2_ENST00000533983.1_Silent_p.G115G|ARNT2_ENST00000527771.1_Silent_p.G115G|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	126					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACCGATGGCGCGTACAAGC	0.572																																																	0													101	72	82					15																	80762742		2203	4300	6503	SO:0001819	synonymous_variant	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.378C>A	15.37:g.80762742C>A			B4DIS7|O15024|Q8IYC2	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.G126	ENST00000303329.4	37	c.378	CCDS32307.1	15																																																																																			ARNT2	-	superfamily_HLH_dom		0.572	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	C			80762742	1	no_errors	ENST00000303329	ensembl	human	known	70_37	silent	SNP	0.998	A	A	80762742	C	A	80762742	2	1	132	1	0	0	0	0	0	0	0	1	967	755	27	2		2	ARNT2	15	80762742	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	12636637	80762742	21768650	66	22291										
TBC1D24	57465	genome.wustl.edu	37	chr16	2546267	2546267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aggaactgaagcagctggcgCgccagggctactgggcccaa	15	12	0	1	rs398122966		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:2546267C>T	ENST00000293970.5	+	2	251	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	TBC1D24_ENST00000567020.1_Missense_Mutation_p.R40C|TBC1D24_ENST00000434757.2_Missense_Mutation_p.R40C|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R40C	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	40			R -> C (in DOORS). {ECO:0000269|PubMed:24291220}.		neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCAGCTGGCGCGCCAGGGCTA	0.642																																																	0													42	51	48					16																	2546267		2094	4216	6310	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.118C>T	16.37:g.2546267C>T	ENSP00000293970:p.Arg40Cys		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.R40C	ENST00000293970.5	37	c.118	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563218	0.86335	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.63580	-0.05;-0.05	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80190	-0.1485	10	0.87932	D	0	-53.2261	18.1789	0.89771	0.0:1.0:0.0:0.0	.	40;40;40	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	C	40	ENSP00000293970:R40C;ENSP00000390106:R40C	ENSP00000293970:R40C	R	+	1	0	TBC1D24	2486268	0.997000	0.39634	0.959000	0.39883	0.889000	0.51656	3.588000	0.53964	2.642000	0.89623	0.549000	0.68633	CGC	TBC1D24	-	NULL		0.642	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	C	NM_020705		2546267	1	no_errors	ENST00000293970	ensembl	human	known	70_37	missense	SNP	0.999	T	T	2546267	C	T	2546267	3	4	132	1	0	0	0	0	1	0	0	0	15644	768	27	2	120	2	TBC1D24	16	2546267	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		2546267	87808486	67	22292										
NLRC3	197358	genome.wustl.edu	37	chr16	3611719	3611719	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ttacctgatcttctgaatgcGacagtccttcccactcagca	6	14	3	2	rs545030726	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:3611719G>A	ENST00000301749.7	-	0	2404				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGAATGCGACAGTCCTTC	0.592																																																	0													92	102	99					16																	3611719		2103	4215	6318			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3611719G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R714C	ENST00000301749.7	37	c.2140		16	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398049	0.62177	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.54071	0.59;0.59;0.59	5.55	3.57	0.40892	.	0.481828	0.22726	N	0.056399	T	0.44932	0.1317	.	.	.	0.30602	N	0.760454	P	0.35780	0.52	B	0.42522	0.39	T	0.47799	-0.9089	9	0.37606	T	0.19	.	6.3422	0.21328	0.167:0.1506:0.6823:0.0	.	714	C9JLH9	.	C	667;667;667;714	ENSP00000301749:R667C;ENSP00000352039:R667C;ENSP00000414415:R714C	ENSP00000301749:R667C	R	-	1	0	NLRC3	3551720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.991000	0.63883	1.361000	0.45981	0.555000	0.69702	CGC	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.592	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		G	NM_178844		3611719	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3611719	G	A	3611719	1	1	132	0	1	0	0	0	0	0	0	0	10492	1058	37	1		1	NLRC3	16	3611719	RNA	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	1065452	3611719	86743034	68	22293										
NOD2	64127	genome.wustl.edu	37	chr16	50745398	50745399	+	Frame_Shift_Ins	INS	-	-	C													0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gcattttctgctgcatgccaINScccccccagactcagcttcc							TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:50745398_50745399insC	ENST00000300589.2	+	4	1681_1682	c.1576_1577insC	c.(1576-1578)accfs	p.T526fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGCATGCCACCCCCCCAGAC	0.619																																																	0																																										SO:0001589	frameshift_variant	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1583dupC	16.37:g.50745405_50745405dupC	ENSP00000300589:p.Thr526fs		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.D529fs	ENST00000300589.2	37	c.1576_1577	CCDS10746.1	16																																																																																			NOD2	-	NULL		0.619	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	NM_022162		50745399	1	no_errors	ENST00000300589	ensembl	human	known	70_37	frame_shift_ins	INS	0.967:0.928	C	C	50745399	-	C	50745398	7	5	132	1	0	1	1	0	0	0	0	0	10541	159	6	0	1590	0	NOD2	16	50745398	Frame_Shift_Ins	INS	-	TCGA-FU-A3NI-01A-11D-A21Q-09	47133679	50745398	39609355	69	22294										
SALL1	6299	genome.wustl.edu	37	chr16	51174607	51174607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gctcaggcacaggataggggTtcatctggatatgagggtat	15	6	3	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:51174607T>C	ENST00000251020.4	-	2	1559	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.N412S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	509					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGATAGGGGTTCATCTGGAT	0.512																																					GBM(103;1352 1446 1855 4775 8890)												0													112	105	107					16																	51174607		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1526A>G	16.37:g.51174607T>C	ENSP00000251020:p.Asn509Ser		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N509S	ENST00000251020.4	37	c.1526	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460176	0.63401	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08458	3.09;3.09	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.19128	-1.0315	10	0.72032	D	0.01	.	15.2318	0.73395	0.0:0.0:0.0:1.0	.	509	Q9NSC2	SALL1_HUMAN	S	509;412;473	ENSP00000251020:N509S;ENSP00000407914:N412S	ENSP00000251020:N509S	N	-	2	0	SALL1	49732108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.990000	0.58119	0.460000	0.39030	AAC	SALL1	-	NULL		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	T	NM_002968		51174607	-1	no_errors	ENST00000251020	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51174607	T	C	51174607	3	2	132	1	0	0	0	0	1	0	0	0	13840	1725	60	5	2456	5	SALL1	16	51174607	Missense_Mutation	SNP	T	TCGA-FU-A3NI-01A-11D-A21Q-09	429209	51174607	39180146	70	22295										
WWOX	51741	genome.wustl.edu	37	chr16	78458774	78458774	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ttttatttttcaggcctcttCatgtgcttgtgtgcaacgca	8	9	3	0	rs74860463	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:78458774C>T	ENST00000566780.1	+	7	979	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.H205Y|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	205	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAGGCCTCTTCATGTGCTTGT	0.458																																																	0													314	322	320					16																	78458774		1936	4135	6071	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.613C>T	16.37:g.78458774C>T	ENSP00000457230:p.His205Tyr		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.H205Y	ENST00000566780.1	37	c.613	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963939	0.53507	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	T	0.22539	1.95	5.35	5.35	0.76521	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.71296	2.17	0.58432	D	0.999998	D	0.69078	0.997	D	0.67231	0.95	T	0.48456	-0.9034	10	0.87932	D	0	.	19.0641	0.93103	0.0:1.0:0.0:0.0	.	205	Q9NZC7	WWOX_HUMAN	Y	205;48	ENSP00000386161:H205Y	ENSP00000299644:H48Y	H	+	1	0	WWOX	77016275	1.000000	0.71417	0.996000	0.52242	0.447000	0.32167	7.484000	0.81180	2.479000	0.83701	0.655000	0.94253	CAT	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.458	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	C			78458774	1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78458774	C	T	78458774	3	4	132	1	0	0	0	0	1	0	0	0	17445	826	29	1	701	1	WWOX	16	78458774	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	27284167	78458774	11895979	71	22296										
CHRNB1	1140	genome.wustl.edu	37	chr17	7357837	7357837	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aaatgcccctttgggtccgtCaggtaagaaagatctcctcc	9	12	2	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:7357837C>T	ENST00000306071.2	+	8	1109	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000576360.1_Nonsense_Mutation_p.Q227*|CHRNB1_ENST00000536404.2_Nonsense_Mutation_p.Q276*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	348					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TTGGGTCCGTCAGGTAAGAAA	0.507																																																	0													90	87	88					17																	7357837		2203	4300	6503	SO:0001587	stop_gained	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1042C>T	17.37:g.7357837C>T	ENSP00000304290:p.Gln348*		B7Z5H1|Q8IZ46|Q96FB8	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Q348*	ENST00000306071.2	37	c.1042	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892421	0.91889	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	.	.	.	5.2	5.2	0.72013	.	0.188192	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3069	0.66391	0.0:1.0:0.0:0.0	.	.	.	.	X	348;276	.	ENSP00000304290:Q348X	Q	+	1	0	CHRNB1	7298561	0.999000	0.42202	0.999000	0.59377	0.959000	0.62525	4.341000	0.59335	2.441000	0.82636	0.454000	0.30748	CAG	CHRNB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.507	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	C			7357837	1	no_errors	ENST00000306071	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7357837	C	T	7357837	4	4	132	1	0	0	0	0	0	1	0	0	3395	827	29	1	1072	1	CHRNB1	17	7357837	Nonsense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		7357837	73837373	72	22297										
BLMH	642	genome.wustl.edu	37	chr17	28601165	28601165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tctttgtctcgatattcccaGgtgaatgtctctggtggatt	10	8	3	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:28601165G>A	ENST00000261714.6	-	7	870	c.696C>T	c.(694-696)acC>acT	p.T232T	BLMH_ENST00000394819.3_Silent_p.T145T|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	232					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GATATTCCCAGGTGAATGTCT	0.438																																					Pancreas(127;628 1772 12912 33293 36203)												0													75	73	74					17																	28601165		2203	4300	6503	SO:0001819	synonymous_variant	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.696C>T	17.37:g.28601165G>A			B2R796|Q53F86|Q9UER9	Silent	SNP	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.T232	ENST00000261714.6	37	c.696	CCDS32604.1	17																																																																																			BLMH	-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B		0.438	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	HGNC	protein_coding	OTTHUMT00000447940.1	G	NM_000386		28601165	-1	no_errors	ENST00000261714	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28601165	G	A	28601165	2	1	132	1	0	0	0	0	0	0	0	1	1447	987	35	4		4	BLMH	17	28601165	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	21243328	28601165	52594045	73	22298										
ERBB2	2064	genome.wustl.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251	204	220					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37868208	C	T	37868208	3	4	132	1	0	0	0	0	1	0	0	0	5218	855	30	1	959	1	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	9267043	37868208	43327002	74	22299										
KRT38	8687	genome.wustl.edu	37	chr17	39594972	39594972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ggcttggaaccactgttccaCatcctggcggttggtctcca	11	13	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:39594972C>A	ENST00000246646.3	-	4	870	c.871G>T	c.(871-873)Gtg>Ttg	p.V291L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	291	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CACTGTTCCACATCCTGGCGG	0.607																																																	0													140	128	132					17																	39594972		2203	4300	6503	SO:0001583	missense	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.871G>T	17.37:g.39594972C>A	ENSP00000246646:p.Val291Leu		A2RRM5|Q6A164	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.V291L	ENST00000246646.3	37	c.871	CCDS11392.1	17	.	.	.	.	.	.	.	.	.	.	.	12.88	2.070861	0.36566	.	.	ENSG00000171360	ENST00000246646	D	0.87729	-2.29	4.23	4.23	0.50019	Filament (1);	0.000000	0.44285	D	0.000479	T	0.80571	0.4648	N	0.21240	0.645	0.20764	N	0.999859	B	0.11235	0.004	B	0.19666	0.026	T	0.72994	-0.4122	10	0.56958	D	0.05	.	15.8176	0.78615	0.0:1.0:0.0:0.0	.	291	O76015	KRT38_HUMAN	L	291	ENSP00000246646:V291L	ENSP00000246646:V291L	V	-	1	0	KRT38	36848498	0.000000	0.05858	0.894000	0.35097	0.761000	0.43186	-0.115000	0.10741	2.220000	0.72140	0.549000	0.68633	GTG	KRT38	-	pfam_F		0.607	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT38	HGNC	protein_coding	OTTHUMT00000257307.2	C	NM_006771		39594972	-1	no_errors	ENST00000246646	ensembl	human	known	70_37	missense	SNP	0.544	A	A	39594972	C	A	39594972	3	1	132	1	0	0	0	0	1	0	0	0	8495	478	17	4	515	4	KRT38	17	39594972	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	1726764	39594972	41600238	75	22300										
GIP	2695	genome.wustl.edu	37	chr17	47044537	47044537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	accctctttcttctctcctaGtcccactgccaggaacaggg	7	16	3	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:47044537G>T	ENST00000357424.2	-	2	158	c.58C>A	c.(58-60)Cta>Ata	p.L20I		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	20					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						TTCTCTCCTAGTCCCACTGCC	0.517																																																	0													110	101	104					17																	47044537		2203	4300	6503	SO:0001583	missense	2695				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"Endogenous ligands"	4270	protein-coding gene	gene with protein product	"glucose-dependent insulinotropic polypeptide"	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.58C>A	17.37:g.47044537G>T	ENSP00000350005:p.Leu20Ile		Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.L20I	ENST00000357424.2	37	c.58	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385784	0.25031	.	.	ENSG00000159224	ENST00000357424	T	0.25749	1.78	5.15	0.581	0.17407	.	1.063310	0.07374	N	0.886211	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.29731	-1.0002	10	0.29301	T	0.29	-0.3682	1.5342	0.02542	0.1859:0.1561:0.4769:0.1811	.	20	P09681	GIP_HUMAN	I	20	ENSP00000350005:L20I	ENSP00000350005:L20I	L	-	1	2	GIP	44399536	0.322000	0.24634	0.179000	0.23059	0.766000	0.43426	1.157000	0.31724	0.341000	0.23771	-0.163000	0.13421	CTA	GIP	-	NULL		0.517	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	G	NM_004123		47044537	-1	no_errors	ENST00000357424	ensembl	human	known	70_37	missense	SNP	0.059	T	T	47044537	G	T	47044537	3	4	132	1	0	0	0	0	1	0	0	0	6410	1020	36	4	423	4	GIP	17	47044537	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	7449565	47044537	34150673	76	22301										
BPTF	2186	genome.wustl.edu	37	chr17	65822382	65822382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ttatccggaggagatggaagAcgacgacgacgacgccagtt	14	9	0	2	rs554343942	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:65822382A>G	ENST00000321892.4	+	1	603	c.542A>G	c.(541-543)gAc>gGc	p.D181G	BPTF_ENST00000306378.6_Missense_Mutation_p.D181G|BPTF_ENST00000424123.3_Missense_Mutation_p.D42G|BPTF_ENST00000335221.5_Missense_Mutation_p.D181G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	181	Asp-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGATGGAAGACGACGACGAC	0.587																																																	0													100	89	93					17																	65822382		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.542A>G	17.37:g.65822382A>G	ENSP00000315454:p.Asp181Gly		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D181G	ENST00000321892.4	37	c.542		17	.	.	.	.	.	.	.	.	.	.	A	9.151	1.016253	0.19355	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.81330	-1.48;-1.48;-1.48	2.92	1.77	0.24775	.	.	.	.	.	T	0.70962	0.3284	L	0.42245	1.32	0.32245	N	0.572136	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.66324	-0.5952	9	0.38643	T	0.18	-0.7522	8.2157	0.31509	0.8211:0.0:0.0:0.1789	.	181;181;181	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	G	86;181;181;181;42	ENSP00000307208:D181G;ENSP00000334351:D181G;ENSP00000315454:D181G	ENSP00000307208:D181G	D	+	2	0	BPTF	63252844	1.000000	0.71417	0.273000	0.24645	0.847000	0.48162	7.833000	0.86765	0.319000	0.23209	0.254000	0.18369	GAC	BPTF	-	NULL		0.587	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		A	NM_182641, NM_004459		65822382	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.999	G	G	65822382	A	G	65822382	3	3	132	1	0	0	0	0	1	0	0	0	1498	275	10	5	544	5	BPTF	17	65822382	Missense_Mutation	SNP	A	TCGA-FU-A3NI-01A-11D-A21Q-09	18777845	65822382	15372828	77	22302										
CASKIN2	57513	genome.wustl.edu	37	chr17	73498651	73498651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tggtccggacaagggcactgCgtcctggccgccgggtaagg	17	12	0	0	rs111983739		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:73498651C>T	ENST00000321617.3	-	18	3090	c.2504G>A	c.(2503-2505)cGc>cAc	p.R835H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R753H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	835	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGGCACTGCGTCCTGGCCG	0.701													C|||	1	0.000199681	0	0.0014	5008	,	,		3203	0		0	False		,,,				2504	0																0								C	HIS/ARG,HIS/ARG	6,4388		0,6,2191	21	23	22		2258,2504	4.9	1	17	dbSNP_132	22	18,8574		0,18,4278	yes	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	29,29	0,24,6469	TT,TC,CC		0.2095,0.1365,0.1848	probably-damaging,probably-damaging	753/1121,835/1203	73498651	24,12962	2197	4296	6493	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2504G>A	17.37:g.73498651C>T	ENSP00000325355:p.Arg835His		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.R835H	ENST00000321617.3	37	c.2504	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991300	0.54041	0.001365	0.002095	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.60797	0.16;0.16	4.87	4.87	0.63330	.	0.000000	0.46758	D	0.000273	T	0.56702	0.2003	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.46885	0.53	T	0.63233	-0.6683	10	0.87932	D	0	.	14.6664	0.68910	0.0:0.8542:0.1458:0.0	.	835	Q8WXE0	CSKI2_HUMAN	H	835;753	ENSP00000325355:R835H;ENSP00000406963:R753H	ENSP00000325355:R835H	R	-	2	0	CASKIN2	71010246	0.988000	0.35896	1.000000	0.80357	0.407000	0.30961	0.999000	0.29757	2.537000	0.85549	0.491000	0.48974	CGC	CASKIN2	-	NULL		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73498651	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.997	T	T	73498651	C	T	73498651	3	4	132	1	0	0	0	0	1	0	0	0	2672	768	27	2	1116	2	CASKIN2	17	73498651	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	7676269	73498651	7696559	78	22303										
UNK	85451	genome.wustl.edu	37	chr17	73816073	73816073	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cagctctgcctccttccactCagcatccccgtcccctcccg	5	23	2	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:73816073C>T	ENST00000589666.1	+	13	1831	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L	UNK_ENST00000293218.3_Missense_Mutation_p.S650L|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	574							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S574*(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTTCCACTCAGCATCCCCG	0.642																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											43	47	46					17																	73816073		2079	4208	6287	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1721C>T	17.37:g.73816073C>T	ENSP00000464893:p.Ser574Leu			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S650L	ENST00000589666.1	37	c.1949	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707970	0.89018	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.70595	2.14	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.74228	-0.3733	9	0.28530	T	0.3	-7.3252	18.0498	0.89344	0.0:1.0:0.0:0.0	.	574	Q9C0B0	UNK_HUMAN	L	650	.	ENSP00000293218:S650L	S	+	2	0	UNK	71327668	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.131000	0.77243	2.486000	0.83907	0.563000	0.77884	TCA	UNK	-	NULL		0.642	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	C	NM_001080419		73816073	1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73816073	C	T	73816073	3	4	132	1	0	0	0	0	1	0	0	0	17031	838	29	1	2003	1	UNK	17	73816073	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	317422	73816073	7379137	79	22304										
ENPP7	339221	genome.wustl.edu	37	chr17	77709214	77709214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ccgtggacaaacgggctggcGacctggttgaattccacaag	13	11	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:77709214G>A	ENST00000328313.5	+	3	993	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGGCTGGCGACCTGGTTGA	0.582																																																	0													131	100	111					17																	77709214		2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.772G>A	17.37:g.77709214G>A	ENSP00000332656:p.Asp258Asn			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.D258N	ENST00000328313.5	37	c.772	CCDS11763.1	17	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411851	0.25465	.	.	ENSG00000182156	ENST00000328313	T	0.75367	-0.93	5.39	4.42	0.53409	Alkaline-phosphatase-like, core domain (1);	0.467813	0.21808	N	0.068808	T	0.51584	0.1683	N	0.10685	0.025	0.38099	D	0.937198	B	0.29552	0.248	B	0.28465	0.09	T	0.50684	-0.8799	10	0.17369	T	0.5	-64.9062	10.5227	0.44929	0.2043:0.0:0.7957:0.0	.	258	Q6UWV6	ENPP7_HUMAN	N	258	ENSP00000332656:D258N	ENSP00000332656:D258N	D	+	1	0	ENPP7	75323809	0.325000	0.24660	0.845000	0.33349	0.257000	0.26127	1.150000	0.31639	1.267000	0.44247	0.655000	0.94253	GAC	ENPP7	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.582	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	G	NM_178543		77709214	1	no_errors	ENST00000328313	ensembl	human	known	70_37	missense	SNP	0.972	A	A	77709214	G	A	77709214	3	1	132	1	0	0	0	0	1	0	0	0	5147	1058	37	1	782	1	ENPP7	17	77709214	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	3893141	77709214	3485996	80	22305										
SLC14A2	8170	genome.wustl.edu	37	chr18	43224124	43224124	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gaagaagagaaggcccccagCggtgaatagccatgttcggg	15	9	0	3	rs140835811		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr18:43224124C>T	ENST00000255226.6	+	10	2166	c.1350C>T	c.(1348-1350)agC>agT	p.S450S	SLC14A2_ENST00000586448.1_Splice_Site_p.S450S|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	450					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGCCCCCAGCGGTGAATAGC	0.542																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	102	102	102		1350,1350	-2.2	1	18	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	SLC14A2	NM_001242692.1,NM_007163.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	450/921,450/921	43224124	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1351+1C>T	18.37:g.43224124C>T			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	pfam_Urea_transporter	p.S450	ENST00000255226.6	37	c.1350	CCDS11924.1	18																																																																																			SLC14A2	-	NULL		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	C		Silent	43224124	1	no_errors	ENST00000255226	ensembl	human	known	70_37	silent	SNP	0.437	T	T	43224124	C	T	43224124	5	4	132	1	0	0	0	0	0	0	1	0	14427	782	27	2	1384	2	SLC14A2	18	43224124	Splice_Site	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		43224124	34853124	81	22306										
STARD6	147323	genome.wustl.edu	37	chr18	51858190	51858190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tcgaggggaaatggagcccaCggcaaaactttgtgtaatgg	14	7	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr18:51858190C>T	ENST00000581310.1	-	7	680	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	STARD6_ENST00000580990.2_Missense_Mutation_p.R10H|STARD6_ENST00000307844.3_Missense_Mutation_p.V103M			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	103	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATGGAGCCCACGGCAAAACTT	0.363																																																	0													111	103	105					18																	51858190		2203	4300	6503	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.307G>A	18.37:g.51858190C>T	ENSP00000462349:p.Val103Met			Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.V103M	ENST00000581310.1	37	c.307	CCDS11955.1	18	.	.	.	.	.	.	.	.	.	.	c	12.75	2.032788	0.35893	.	.	ENSG00000174448	ENST00000307844	T	0.42131	0.98	5.89	3.46	0.39613	Lipid-binding START (3);START-like domain (1);	0.060451	0.64402	N	0.000003	T	0.07593	0.0191	N	0.00034	-2.565	0.22354	N	0.999173	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.32370	T	0.25	.	5.4418	0.16513	0.1521:0.0822:0.0:0.7657	.	103	P59095	STAR6_HUMAN	M	103	ENSP00000310814:V103M	ENSP00000310814:V103M	V	-	1	0	STARD6	50112188	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.881000	0.39638	0.450000	0.26774	-0.346000	0.07831	GTG	STARD6	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.363	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	HGNC	protein_coding	OTTHUMT00000256000.3	C	NM_139171		51858190	-1	no_errors	ENST00000307844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51858190	C	T	51858190	3	4	132	1	0	0	0	0	1	0	0	0	15291	536	19	2	366	2	STARD6	18	51858190	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	8634066	51858190	26219058	82	22307										
ZNF358	140467	genome.wustl.edu	37	chr19	7584278	7584278	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gagcctgatcctgaagacctCaacactgtcccggaagacgt	10	13	1	4			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:7584278C>G	ENST00000597229.1	+	2	320	c.150C>G	c.(148-150)ctC>ctG	p.L50L	ZNF358_ENST00000394341.2_Silent_p.L50L|CTD-2207O23.11_ENST00000602083.1_RNA|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	50					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTGAAGACCTCAACACTGTCC	0.592																																																	0													49	58	55					19																	7584278		2202	4299	6501	SO:0001819	synonymous_variant	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.150C>G	19.37:g.7584278C>G			Q9BTM7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L50	ENST00000597229.1	37	c.150	CCDS32890.2	19																																																																																			ZNF358	-	NULL		0.592	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	C			7584278	1	no_errors	ENST00000394341	ensembl	human	known	70_37	silent	SNP	1.000	G	G	7584278	C	G	7584278	2	3	132	1	0	0	0	0	0	0	0	1	17897	813	29	1		1	ZNF358	19	7584278	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		7584278	51544705	83	22308										
C19orf39	126074	genome.wustl.edu	37	chr19	11486566	11486566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gcctgcctggagccaggcggGctgggccccagaacagagtg	17	13	0	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:11486566G>A	ENST00000312423.2	+	2	623	c.564G>A	c.(562-564)ggG>ggA	p.G188G	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	188					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										AGCCAGGCGGGCTGGGCCCCA	0.642																																																	0													23	27	26					19																	11486566		2203	4300	6503	SO:0001819	synonymous_variant	126074			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.564G>A	19.37:g.11486566G>A			Q8NAM1	Silent	SNP	NULL	p.G188	ENST00000312423.2	37	c.564	CCDS12259.1	19																																																																																			SWSAP1	-	NULL		0.642	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWSAP1	HGNC	protein_coding	OTTHUMT00000458789.1	G	NM_175871		11486566	1	no_errors	ENST00000312423	ensembl	human	known	70_37	silent	SNP	0.001	A	A	11486566	G	A	11486566	2	1	132	1	0	0	0	0	0	0	0	1	1927	1190	42	4		4	C19orf39	19	11486566	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	3902288	11486566	47642417	84	22309										
ZNF599	148103	genome.wustl.edu	37	chr19	35250659	35250659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tggataaatgtggagcggtgCgtgaaggcctttccacattc	13	8	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:35250659C>T	ENST00000329285.8	-	4	1420	c.1047G>A	c.(1045-1047)acG>acA	p.T349T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGGAGCGGTGCGTGAAGGCCT	0.423																																																	0													57	54	55					19																	35250659		2203	4300	6503	SO:0001819	synonymous_variant	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1047G>A	19.37:g.35250659C>T			Q569K0|Q5PRG1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T349	ENST00000329285.8	37	c.1047	CCDS32991.1	19																																																																																			ZNF599	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	C	XM_086046		35250659	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	silent	SNP	0.000	T	T	35250659	C	T	35250659	2	4	132	1	0	0	0	0	0	0	0	1	18059	755	27	2		2	ZNF599	19	35250659	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	23764093	35250659	23878324	85	22310										
KIRREL2	84063	genome.wustl.edu	37	chr19	36348063	36348063	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gccctcctcgtcctcctcttCtgcttcagagggagagcagg	11	15	3	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:36348063C>T	ENST00000360202.5	+	1	240	c.42C>T	c.(40-42)ttC>ttT	p.F14F	KIRREL2_ENST00000592409.1_Silent_p.F14F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.F14F|KIRREL2_ENST00000347900.6_Silent_p.F14F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	14					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCCTCTTCTGCTTCAGAG	0.622																																																	0													53	43	46					19																	36348063		2203	4300	6503	SO:0001819	synonymous_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.42C>T	19.37:g.36348063C>T			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F14	ENST00000360202.5	37	c.42	CCDS12481.1	19																																																																																			KIRREL2	-	NULL		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	C	NM_032123		36348063	1	no_errors	ENST00000360202	ensembl	human	known	70_37	silent	SNP	0.998	T	T	36348063	C	T	36348063	2	4	132	1	0	0	0	0	0	0	0	1	8345	912	32	1		1	KIRREL2	19	36348063	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	1097404	36348063	22780920	86	22311										
MEGF8	1954	genome.wustl.edu	37	chr19	42860054	42860054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ccaggacggtgctgcaggtgCggggctctgccgatgtcctc	16	13	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:42860054C>T	ENST00000251268.6	+	24	4289	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V	MEGF8_ENST00000334370.4_Missense_Mutation_p.A1363V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1430	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAGGTGCGGGGCTCTGC	0.672																																																	0													22	21	22					19																	42860054		2203	4295	6498	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4289C>T	19.37:g.42860054C>T	ENSP00000251268:p.Ala1430Val		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.A1430V	ENST00000251268.6	37	c.4289		19	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041722	0.55003	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.03	4.76	4.76	0.60689	Epidermal growth factor-like, type 3 (1);	0.168004	0.39274	N	0.001408	T	0.22742	0.0549	N	0.08118	0	0.80722	D	1	P;D	0.76494	0.765;0.999	B;P	0.59546	0.055;0.859	T	0.15178	-1.0446	10	0.30854	T	0.27	-8.4118	16.7031	0.85364	0.0:1.0:0.0:0.0	.	1430;1363	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	1363;1430	ENSP00000334219:A1363V;ENSP00000251268:A1430V	ENSP00000251268:A1430V	A	+	2	0	MEGF8	47551894	0.332000	0.24722	0.965000	0.40720	0.806000	0.45545	0.697000	0.25556	2.490000	0.84030	0.563000	0.77884	GCG	MEGF8	-	smart_EG-like_dom,pfscan_EG-like_dom		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42860054	1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	0.991	T	T	42860054	C	T	42860054	3	4	132	1	0	0	0	0	1	0	0	0	9486	768	27	2	4178	2	MEGF8	19	42860054	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	6511991	42860054	16268929	87	22312										
ZNF808	388558	genome.wustl.edu	37	chr19	53057757	53057757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gggcatcccttgtataccatCgtagacttcacactctagag	8	12	2	2			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:53057757C>T	ENST00000359798.4	+	5	1768	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTATACCATCGTAGACTTCA	0.423																																																	0													147	160	155					19																	53057757		2201	4300	6501	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1588C>T	19.37:g.53057757C>T	ENSP00000352846:p.Arg530Cys		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R530C	ENST00000359798.4	37	c.1588	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	11.00	1.510100	0.27036	.	.	ENSG00000198482	ENST00000359798	T	0.37915	1.17	1.5	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50292	0.1607	M	0.84585	2.705	0.09310	N	1	D	0.57257	0.979	P	0.60415	0.874	T	0.44128	-0.9348	9	0.87932	D	0	.	1.2731	0.02025	0.2143:0.4222:0.2116:0.1519	.	530	Q8N4W9	ZN808_HUMAN	C	530	ENSP00000352846:R530C	ENSP00000352846:R530C	R	+	1	0	ZNF808	57749569	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.419000	0.07071	-0.615000	0.05679	0.195000	0.17529	CGT	ZNF808	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	C	NM_001039886		53057757	1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.000	T	T	53057757	C	T	53057757	3	4	132	1	0	0	0	0	1	0	0	0	18203	884	31	1	1598	1	ZNF808	19	53057757	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	10197703	53057757	6071226	88	22313										
SLC27A5	10998	genome.wustl.edu	37	chr19	59022833	59022833	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	acacaggctcgcagggtcacCcagctcagccttcagggccc	11	17	3	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:59022833C>G	ENST00000263093.2	-	1	599	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	164					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCAGGGTCACCCAGCTCAGCC	0.687																																																	0													11	10	11					19																	59022833		2180	4270	6450	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.490G>C	19.37:g.59022833C>G	ENSP00000263093:p.Gly164Arg		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G164R	ENST00000263093.2	37	c.490	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	15.43	2.832560	0.50845	.	.	ENSG00000083807	ENST00000263093	T	0.67171	-0.25	4.18	-0.912	0.10504	AMP-dependent synthetase/ligase (1);	1.688660	0.03854	N	0.272736	T	0.63260	0.2496	L	0.50333	1.59	0.09310	N	1	P	0.38300	0.626	B	0.43413	0.419	T	0.53479	-0.8433	10	0.49607	T	0.09	-1.9602	4.0537	0.09806	0.0:0.372:0.3894:0.2386	.	164	Q9Y2P5	S27A5_HUMAN	R	164	ENSP00000263093:G164R	ENSP00000263093:G164R	G	-	1	0	SLC27A5	63714645	0.000000	0.05858	0.042000	0.18584	0.254000	0.26022	-0.407000	0.07178	0.126000	0.18424	0.455000	0.32223	GGT	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.687	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59022833	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.050	G	G	59022833	C	G	59022833	3	3	132	1	0	0	0	0	1	0	0	0	14559	623	22	4	1622	4	SLC27A5	19	59022833	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	5965076	59022833	106150	89	22314										
TMEM90B	79953	genome.wustl.edu	37	chr20	24523745	24523745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gagagtaccatggatggcatCattgaacagaagagcatgct	12	7	1	4			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr20:24523745C>T	ENST00000376862.3	+	2	645	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	4					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGATGGCATCATTGAACAGA	0.512																																																	0													92	88	89					20																	24523745		2203	4300	6503	SO:0001819	synonymous_variant	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.12C>T	20.37:g.24523745C>T			Q6IA30|Q9H514	Silent	SNP	pfam_Interferon-induced_TM_protein	p.I4	ENST00000376862.3	37	c.12	CCDS13164.1	20																																																																																			SYNDIG1	-	NULL		0.512	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	C	NM_024893		24523745	1	no_errors	ENST00000376862	ensembl	human	known	70_37	silent	SNP	0.000	T	T	24523745	C	T	24523745	2	4	132	1	0	0	0	0	0	0	0	1	16249	816	29	1		1	TMEM90B	20	24523745	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		24523745	38501775	90	22315										
KIAA1755	85449	genome.wustl.edu	37	chr20	36869138	36869138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ttgagcccaggagtggggggCtcaggggaggaggtgtttct	20	6	2	1	rs554195759	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr20:36869138C>T	ENST00000279024.4	-	3	1666	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	465										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGTGGGGGGCTCAGGGGAGG	0.562																																																	0													57	60	59					20																	36869138		2203	4300	6503	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1395G>A	20.37:g.36869138C>T			Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.E465	ENST00000279024.4	37	c.1395	CCDS33467.1	20																																																																																			KIAA1755	-	NULL		0.562	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36869138	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	silent	SNP	0.000	T	T	36869138	C	T	36869138	2	4	132	1	0	0	0	0	0	0	0	1	8277	796	28	4		4	KIAA1755	20	36869138	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	12345393	36869138	26156382	91	22316										
SUN2	25777	genome.wustl.edu	37	chr22	39135417	39135417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cgctgcagggcctgcttcacGatgtggtgcacctgctgcaa	13	13	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:39135417G>A	ENST00000405510.1	-	15	1951	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	SUN2_ENST00000405018.1_Silent_p.I552I|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000216064.4_Silent_p.I531I|RP3-508I15.20_ENST00000609428.1_RNA|SUN2_ENST00000406622.1_Silent_p.I531I|SUN2_ENST00000411587.2_Silent_p.I520I|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	531					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CCTGCTTCACGATGTGGTGCA	0.642																																																	0													91	59	70					22																	39135417		2203	4299	6502	SO:0001819	synonymous_variant	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1593C>T	22.37:g.39135417G>A			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.I531	ENST00000405510.1	37	c.1593	CCDS13978.1	22																																																																																			SUN2	-	NULL		0.642	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	G	XM_039332		39135417	-1	no_errors	ENST00000216064	ensembl	human	known	70_37	silent	SNP	0.042	A	A	39135417	G	A	39135417	2	1	132	1	0	0	0	0	0	0	0	1	15422	1048	37	1		1	SUN2	22	39135417	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09		39135417	12169149	92	22317										
EP300	2033	genome.wustl.edu	37	chr22	41572870	41572870	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tagatgatgagagcaacaacCagcaggctgcagccacccag	11	12	0	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:41572870C>T	ENST00000263253.7	+	31	6374	c.5155C>T	c.(5155-5157)Cag>Tag	p.Q1719*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1719	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGCAACAACCAGCAGGCTGC	0.517			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													100	93	95					22																	41572870		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5155C>T	22.37:g.41572870C>T	ENSP00000263253:p.Gln1719*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q1719*	ENST00000263253.7	37	c.5155	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	52	19.422972	0.99919	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.45	5.45	0.79879	.	0.000000	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.8002	19.6502	0.95798	0.0:1.0:0.0:0.0	.	.	.	.	X	1719	.	ENSP00000263253:Q1719X	Q	+	1	0	EP300	39902816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.714000	0.92807	0.650000	0.86243	CAG	EP300	-	NULL		0.517	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41572870	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41572870	C	T	41572870	4	4	132	1	0	0	0	0	0	1	0	0	5160	595	21	4	5277	4	EP300	22	41572870	Nonsense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	2437453	41572870	9731696	93	22318										
ASMTL	8623	genome.wustl.edu	37	chrX	1540565	1540565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tgctacctggaacagatcttCcgccttcttccccaacgccc	6	18	2	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:1540565C>T	ENST00000381317.3	-	9	1263	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	ASMTL_ENST00000416733.2_Missense_Mutation_p.E335K|ASMTL_ENST00000381333.4_Missense_Mutation_p.E395K|ASMTL_ENST00000534940.1_Missense_Mutation_p.E353K	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	411	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACAGATCTTCCGCCTTCTTC	0.507																																																	0													229	243	239					X																	1540565		2018	4167	6185	SO:0001583	missense	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1231G>A	X.37:g.1540565C>T	ENSP00000370718:p.Glu411Lys		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.E411K	ENST00000381317.3	37	c.1231	CCDS43917.1	X	.	.	.	.	.	.	.	.	.	.	c	1.625	-0.520386	0.04171	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	1.58	0.29	0.15728	O-methyltransferase, family 2 (1);	0.611766	0.15026	U	0.284740	T	0.16342	0.0393	L	0.46741	1.465	0.09310	N	1	B;P;P	0.41947	0.166;0.458;0.766	B;B;B	0.34301	0.038;0.09;0.179	T	0.20638	-1.0269	10	0.15952	T	0.53	.	9.4498	0.38719	0.0:0.6097:0.3903:0.0	.	335;395;411	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	K	335;353;395;411	ENSP00000410578:E335K;ENSP00000446410:E353K;ENSP00000370734:E395K;ENSP00000370718:E411K	ENSP00000370718:E411K	E	-	1	0	ASMTL	1500565	0.004000	0.15560	0.011000	0.14972	0.046000	0.14306	0.991000	0.29654	0.530000	0.28619	0.100000	0.15512	GAA	ASMTL	-	pfam_O_MeTrfase_2		0.507	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	C	NM_004192		1540565	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	missense	SNP	0.023	T	T	1540565	C	T	1540565	3	4	132	1	0	0	0	0	1	0	0	0	1047	864	30	1	654	1	ASMTL	23	1540565	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09		1540565	153729995	94	22319										
TLR7	51284	genome.wustl.edu	37	chrX	12904954	12904954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	caggagattcaagtgaagttGgcttctgctcaaatgccaga	11	8	3	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:12904954G>T	ENST00000380659.3	+	3	1466	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	443					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AAGTGAAGTTGGCTTCTGCTC	0.353																																																	0													64	70	68					X																	12904954		2196	4291	6487	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1327G>T	X.37:g.12904954G>T	ENSP00000370034:p.Gly443Cys		D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.G443C	ENST00000380659.3	37	c.1327	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	G	5.919	0.353687	0.11182	.	.	ENSG00000196664	ENST00000380659	T	0.42900	0.96	5.84	4.05	0.47172	.	0.295543	0.31601	N	0.007364	T	0.63426	0.2510	M	0.88640	2.97	0.38826	D	0.955746	D	0.76494	0.999	D	0.66847	0.947	T	0.65672	-0.6111	10	0.62326	D	0.03	.	6.0448	0.19753	0.1586:0.0:0.6879:0.1535	.	443	Q9NYK1	TLR7_HUMAN	C	443	ENSP00000370034:G443C	ENSP00000370034:G443C	G	+	1	0	TLR7	12814875	1.000000	0.71417	0.290000	0.24890	0.613000	0.37349	3.380000	0.52448	0.599000	0.29845	-0.237000	0.12165	GGC	TLR7	-	NULL		0.353	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	G	NM_016562		12904954	1	no_errors	ENST00000380659	ensembl	human	known	70_37	missense	SNP	0.921	T	T	12904954	G	T	12904954	3	4	132	1	0	0	0	0	1	0	0	0	15986	1348	47	4	1333	4	TLR7	23	12904954	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	11364389	12904954	142365606	95	22320										
OFD1	8481	genome.wustl.edu	37	chrX	13753462	13753462	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	cggggtatactggatacactCaaggtatcggatttaggcgt	13	7	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:13753462C>G	ENST00000340096.6	+	2	435	c.108C>G	c.(106-108)ctC>ctG	p.L36L	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.L36L|TRAPPC2_ENST00000358231.5_5'Flank|TRAPPC2_ENST00000359680.5_5'Flank|OFD1_ENST00000398395.3_Silent_p.L36L|OFD1_ENST00000380567.1_5'UTR|TRAPPC2_ENST00000453655.2_5'Flank|TRAPPC2_ENST00000458511.2_5'Flank|TRAPPC2_ENST00000380579.1_5'Flank|TRAPPC2_ENST00000519885.1_5'Flank	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	36					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGGATACACTCAAGGTATCGG	0.393																																																	0													148	116	127					X																	13753462		2203	4300	6503	SO:0001819	synonymous_variant	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.108C>G	X.37:g.13753462C>G			B9ZVU5|O75666|Q4VAK4	Silent	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L36	ENST00000340096.6	37	c.108	CCDS14157.1	X																																																																																			OFD1	-	NULL		0.393	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	C	NM_003611		13753462	1	no_errors	ENST00000340096	ensembl	human	known	70_37	silent	SNP	0.998	G	G	13753462	C	G	13753462	2	3	132	1	0	0	0	0	0	0	0	1	10862	813	29	1		1	OFD1	23	13753462	Silent	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	848508	13753462	141517098	96	22321										
MAP3K15	389840	genome.wustl.edu	37	chrX	19392605	19392605	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gaggcctcacctgagggcttGaaggcaattcggttcttctt	12	10	3	2	rs267606415		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:19392605G>A	ENST00000338883.4	-	20	2762	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	MAP3K15_ENST00000359173.3_Silent_p.F356F|MAP3K15_ENST00000469203.2_Silent_p.F753F|MAP3K15_ENST00000518578.1_5'UTR|Y_RNA_ENST00000365274.1_RNA	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	921							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGAGGGCTTGAAGGCAATTC	0.592																																																	0													118	86	97					X																	19392605		2203	4300	6503	SO:0001819	synonymous_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2763C>T	X.37:g.19392605G>A			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F921	ENST00000338883.4	37	c.2763		X																																																																																			MAP3K15	-	superfamily_Kinase-like_dom		0.592	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19392605	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19392605	G	A	19392605	2	1	132	1	0	0	0	0	0	0	0	1	9272	1281	45	1		1	MAP3K15	23	19392605	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	5639143	19392605	135877955	97	22322										
DMD	1756	genome.wustl.edu	37	chrX	33357379	33357379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	agctttaataatcctaccttCcatgccagctgtttttcctg	5	12	0	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:33357379C>T	ENST00000288447.4	-	1	179	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K				P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCCTACCTTCCATGCCAGCT	0.398																																																	0													222	185	196					X																	33357379		1893	4108	6001	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000288447.4:c.4G>A	X.37:g.33357379C>T	ENSP00000288447:p.Glu2Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.E2K	ENST00000288447.4	37	c.4		X	.	.	.	.	.	.	.	.	.	.	C	2.937	-0.219733	0.06061	.	.	ENSG00000198947	ENST00000288447	D	0.95482	-3.72	5.51	4.64	0.57946	.	.	.	.	.	D	0.89750	0.6805	N	0.17594	0.5	0.80722	D	1	P;P	0.40970	0.734;0.72	B;B	0.37731	0.257;0.201	D	0.88043	0.2782	9	0.37606	T	0.19	.	12.3499	0.55143	0.0:0.9168:0.0:0.0832	.	2;2	Q4G0X0;P11532-4	.;.	K	2	ENSP00000288447:E2K	ENSP00000288447:E2K	E	-	1	0	DMD	33267300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	1.077000	0.40990	0.594000	0.82650	GAA	DMD	-	superfamily_CH-domain		0.398	DMD-002	PUTATIVE	basic	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056183.1	C	NM_004006		33357379	-1	no_errors	ENST00000288447	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	33357379	C	T	33357379	3	4	132	1	0	0	0	0	1	0	0	0	4590	864	30	1	11646	1	DMD	23	33357379	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	13964774	33357379	121913181	98	22323										
KDM6A	7403	genome.wustl.edu	37	chrX	44911048	44911048	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	aactgtcttacaacagttagGtatgtaatagtatacattta	6	5	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:44911048G>A	ENST00000377967.4	+	9	789		c.e9+1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAGTTAGGTATGTAATAG	0.333			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	10	Whole gene deletion(6)|No detectable mRNA/protein(4)	haematopoietic_and_lymphoid_tissue(4)|oesophagus(2)|breast(2)|pancreas(2)											40	34	36					X																	44911048		2199	4294	6493	SO:0001630	splice_region_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.748+1G>A	X.37:g.44911048G>A			Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e9+1	ENST00000377967.4	37	c.748+1	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493048	0.84962	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5843	0.87977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44795992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.388000	0.97237	2.169000	0.68431	0.538000	0.68166	.	KDM6A	-	-		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140	Intron	44911048	1	no_errors	ENST00000382899	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	44911048	G	A	44911048	5	1	132	1	0	0	0	0	0	0	1	0	8157	1275	44	4	783	4	KDM6A	23	44911048	Splice_Site	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	11553669	44911048	110359512	99	22324										
USP11	8237	genome.wustl.edu	37	chrX	47104246	47104246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gtggcccccaaggcgacgacGcaagcagctgttcaccctgc	12	16	1	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:47104246G>A	ENST00000218348.3	+	15	2138	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H	USP11_ENST00000377107.2_Missense_Mutation_p.R670H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	713	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGGCGACGACGCAAGCAGCTG	0.597																																																	0													49	44	46					X																	47104246		2202	4300	6502	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2138G>A	X.37:g.47104246G>A	ENSP00000218348:p.Arg713His		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.R713H	ENST00000218348.3	37	c.2138	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119570	0.56505	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.22945	1.95;1.93	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.598172	0.17121	N	0.186206	T	0.34687	0.0906	L	0.31294	0.92	0.33849	D	0.632343	B;D	0.64830	0.228;0.994	B;P	0.60886	0.06;0.88	T	0.42310	-0.9459	10	0.41790	T	0.15	-17.2633	13.1241	0.59344	0.0:0.0:1.0:0.0	.	439;713	B3KP28;P51784	.;UBP11_HUMAN	H	670;713	ENSP00000366311:R670H;ENSP00000218348:R713H	ENSP00000218348:R713H	R	+	2	0	USP11	46989190	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	2.059000	0.41384	2.158000	0.67659	0.513000	0.50165	CGC	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.597	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47104246	1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.919	A	A	47104246	G	A	47104246	3	1	132	1	0	0	0	0	1	0	0	0	17073	1087	38	2	2196	2	USP11	23	47104246	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	2193198	47104246	108166314	100	22325										
SYN1	6853	genome.wustl.edu	37	chrX	47435556	47435556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gatgtgatcccttccgtcctTgccatgtagcgcttccactg	9	14	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:47435556T>G	ENST00000295987.7	-	9	1256	c.1132A>C	c.(1132-1134)Aag>Cag	p.K378Q	SYN1_ENST00000340666.4_Missense_Mutation_p.K378Q	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	378	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTTCCGTCCTTGCCATGTAGC	0.557																																																	0													173	77	110					X																	47435556		2203	4300	6503	SO:0001583	missense	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1132A>C	X.37:g.47435556T>G	ENSP00000295987:p.Lys378Gln		B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.K378Q	ENST00000295987.7	37	c.1132	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	t	15.05	2.718360	0.48622	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.42900	1.46;0.96	4.66	4.66	0.58398	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.68632	0.3022	M	0.93197	3.39	0.80722	D	1	D;D	0.64830	0.994;0.982	P;P	0.62298	0.9;0.629	T	0.76656	-0.2879	10	0.87932	D	0	-12.8203	11.1587	0.48503	0.0:0.0:0.0:1.0	.	378;378	P17600;P17600-2	SYN1_HUMAN;.	Q	378	ENSP00000295987:K378Q;ENSP00000343206:K378Q	ENSP00000295987:K378Q	K	-	1	0	SYN1	47320500	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	7.635000	0.83286	1.530000	0.49136	0.438000	0.28831	AAG	SYN1	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type		0.557	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	T	NM_006950		47435556	-1	no_errors	ENST00000295987	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47435556	T	G	47435556	3	3	132	1	0	0	0	0	1	0	0	0	15470	1821	63	5	1005	5	SYN1	23	47435556	Missense_Mutation	SNP	T	TCGA-FU-A3NI-01A-11D-A21Q-09	331310	47435556	107835004	101	22326										
MAGED2	10916	genome.wustl.edu	37	chrX	54839587	54839587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	gctgcgcaagttggggctgcGccctgggtatgattgggctc	17	10	0	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:54839587G>A	ENST00000375068.1	+	9	1435	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000396224.1_Missense_Mutation_p.R401H|MAGED2_ENST00000347546.4_Missense_Mutation_p.R383H|MAGED2_ENST00000375060.1_Missense_Mutation_p.R316H|MAGED2_ENST00000375058.1_Missense_Mutation_p.R401H|MAGED2_ENST00000375053.2_Missense_Mutation_p.R401H|MAGED2_ENST00000375062.4_Missense_Mutation_p.R316H|MAGED2_ENST00000218439.4_Missense_Mutation_p.R401H			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	401	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.R401H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TTGGGGCTGCGCCCTGGGTAT	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											141	124	130					X																	54839587		2203	4300	6503	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1202G>A	X.37:g.54839587G>A	ENSP00000364209:p.Arg401His		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R401H	ENST00000375068.1	37	c.1202	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587458	0.28268	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64	4.18	3.3	0.37823	.	0.000000	0.38272	N	0.001757	T	0.04048	0.0113	L	0.35723	1.085	0.30683	N	0.752181	B;B	0.27416	0.178;0.038	B;B	0.28784	0.094;0.028	T	0.11036	-1.0604	10	0.29301	T	0.29	.	6.0385	0.19720	0.1394:0.0:0.8606:0.0	.	316;401	Q5H907;Q9UNF1	.;MAGD2_HUMAN	H	401;401;345;383;316;401;401;316;401	ENSP00000364209:R401H;ENSP00000364193:R401H;ENSP00000336962:R345H;ENSP00000340290:R383H;ENSP00000364202:R316H;ENSP00000218439:R401H;ENSP00000364198:R401H;ENSP00000364200:R316H;ENSP00000379526:R401H	ENSP00000218439:R401H	R	+	2	0	MAGED2	54856312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.193000	0.50997	2.031000	0.59945	0.600000	0.82982	CGC	MAGED2	-	pfam_MAGE,pfscan_MAGE		0.572	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	G	NM_014599		54839587	1	no_errors	ENST00000218439	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54839587	G	A	54839587	3	1	132	1	0	0	0	0	1	0	0	0	9207	1087	38	2	1232	2	MAGED2	23	54839587	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	7404031	54839587	100430973	102	22327										
MAGT1	84061	genome.wustl.edu	37	chrX	77131014	77131014	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	ggggctttcacaaggcgacgGaacttgtctccattcattct	10	11	4	0			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:77131014G>A	ENST00000373336.3	-	2	212	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MAGT1_ENST00000358075.6_Silent_p.F93F			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	61	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAGGCGACGGAACTTGTCTC	0.428																																																	0													232	212	219					X																	77131014		2203	4296	6499	SO:0001819	synonymous_variant	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.183C>T	X.37:g.77131014G>A			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.F93	ENST00000373336.3	37	c.279		X																																																																																			MAGT1	-	superfamily_Thioredoxin-like_fold		0.428	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057302.2	G	NM_032121		77131014	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	silent	SNP	0.965	A	A	77131014	G	A	77131014	2	1	132	1	0	0	0	0	0	0	0	1	9219	1165	41	1		1	MAGT1	23	77131014	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	22291427	77131014	78139546	103	22328										
GRIA3	2892	genome.wustl.edu	37	chrX	122538637	122538637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	atgaaggctattgtgtagacCtagcctatgaaatagccaaa	9	7	0	3			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:122538637C>A	ENST00000371251.1	+	10	1424	c.1372C>A	c.(1372-1374)Cta>Ata	p.L458I	GRIA3_ENST00000264357.5_Missense_Mutation_p.L458I|GRIA3_ENST00000371256.5_Missense_Mutation_p.L458I|GRIA3_ENST00000541091.1_Missense_Mutation_p.L442I|GRIA3_ENST00000542149.1_Missense_Mutation_p.L458I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	458					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTGTGTAGACCTAGCCTATGA	0.398																																																	0													175	138	150					X																	122538637		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1372C>A	X.37:g.122538637C>A	ENSP00000360297:p.Leu458Ile		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L458I	ENST00000371251.1	37	c.1372	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851846	0.71719	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.7	4.54	0.55810	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.99	D;D;D	0.80764	0.994;0.987;0.979	D	0.90744	0.4652	10	0.87932	D	0	.	9.4851	0.38924	0.0:0.0848:0.0:0.9152	.	442;458;458	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	458;458;458;458;442	ENSP00000264357:L458I;ENSP00000446146:L458I;ENSP00000360302:L458I;ENSP00000360297:L458I;ENSP00000446440:L442I	ENSP00000264357:L458I	L	+	1	2	GRIA3	122366318	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.265000	0.58865	0.784000	0.33661	-0.518000	0.04402	CTA	GRIA3	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.398	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122538637	1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122538637	C	A	122538637	3	1	132	1	0	0	0	0	1	0	0	0	6789	680	24	4	1410	4	GRIA3	23	122538637	Missense_Mutation	SNP	C	TCGA-FU-A3NI-01A-11D-A21Q-09	45407623	122538637	32731923	104	22329										
CCDC160	347475	genome.wustl.edu	37	chrX	133379541	133379541	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	atccacaaattgaacctagaGaacagaaatctaaaagaagc	6	8	1	4			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:133379541G>A	ENST00000517294.1	+	3	1094	c.711G>A	c.(709-711)gaG>gaA	p.E237E	CCDC160_ENST00000370809.4_Silent_p.E237E			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	237										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						TGAACCTAGAGAACAGAAATC	0.338																																																	0													27	23	24					X																	133379541		1827	4063	5890	SO:0001819	synonymous_variant	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.711G>A	X.37:g.133379541G>A				Silent	SNP	NULL	p.E237	ENST00000517294.1	37	c.711	CCDS48171.1	X																																																																																			CCDC160	-	NULL		0.338	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	G	NM_001101357		133379541	1	no_errors	ENST00000370809	ensembl	human	known	70_37	silent	SNP	0.873	A	A	133379541	G	A	133379541	2	1	132	1	0	0	0	0	0	0	0	1	2797	933	33	1		1	CCDC160	23	133379541	Silent	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	10840904	133379541	21891019	105	22330										
CT45A5	441521	genome.wustl.edu	37	chrX	134948146	134948146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	tgggtggaatagcatgtcctGtcataagctctggtgaaaca	12	7	2	1			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:134948146G>T	ENST00000463085.2	-	3	268	c.179C>A	c.(178-180)aCa>aAa	p.T60K	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.T60K|CT45A5_ENST00000370724.3_Missense_Mutation_p.T60K			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	60										endometrium(1)|large_intestine(2)|lung(6)	9						AGCATGTCCTGTCATAAGCTC	0.438																																																	0													99	109	106					X																	134948146		2186	4250	6436	SO:0001583	missense	441521			AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.179C>A	X.37:g.134948146G>T	ENSP00000424778:p.Thr60Lys		A8K842|B7ZMC5	Missense_Mutation	SNP	superfamily_RmlC_Cupin	p.T60K	ENST00000463085.2	37	c.179	CCDS35406.1	X	.	.	.	.	.	.	.	.	.	.	G	3.794	-0.043140	0.07452	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.52754	0.65;0.65	1.84	-0.239	0.13050	.	0.991539	0.08185	U	0.984809	T	0.31734	0.0806	L	0.39898	1.24	0.09310	N	1	B	0.30281	0.275	B	0.21917	0.037	T	0.25187	-1.0139	10	0.52906	T	0.07	.	2.1452	0.03785	0.2078:0.0:0.4888:0.3034	.	60	Q6NSH3	CT455_HUMAN	K	60	ENSP00000359759:T60K;ENSP00000425997:T60K	ENSP00000359759:T60K	T	-	2	0	CT45A5	134775812	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	-0.014000	0.12656	-0.165000	0.10908	-0.566000	0.04163	ACA	CT45A5	-	NULL		0.438	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CT45A5	HGNC	protein_coding	OTTHUMT00000472589.1	G	NM_001007551		134948146	-1	no_errors	ENST00000370724	ensembl	human	known	70_37	missense	SNP	0.001	T	T	134948146	G	T	134948146	3	4	132	1	0	0	0	0	1	0	0	0	3993	1377	48	4	402	4	CT45A5	23	134948146	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	1568605	134948146	20322414	106	22331										
PLXNA3	55558	genome.wustl.edu	37	chrX	153694354	153694354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.224299065420561	24	0.000797314580686761	2.05742821473159	5.34074074074074	1.6418190342241	0.0086721319591433	0.0382362181834955	12	caacctgggcctcttgtcccGagaggtgggcctgcgggtgg	17	12	1	1	rs368644346		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:153694354G>A	ENST00000369682.3	+	14	2784	c.2609G>A	c.(2608-2610)cGa>cAa	p.R870Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	870	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTTGTCCCGAGAGGTGGGC	0.662																																																	0									GLN/ARG	0,3835		0,0,1632,571	61	54	56		2609	3.3	0.2	X		56	1,6727		0,1,2427,1872	no	missense	PLXNA3	NM_017514.3	43	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging	870/1872	153694354	1,10562	2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2609G>A	X.37:g.153694354G>A	ENSP00000358696:p.Arg870Gln		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R870Q	ENST00000369682.3	37	c.2609	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567196	0.28003	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.76448	-1.02	5.32	3.26	0.37387	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.258740	0.32802	N	0.005633	T	0.52805	0.1757	N	0.14661	0.345	0.09310	N	1	B	0.27286	0.174	B	0.26693	0.072	T	0.24012	-1.0172	10	0.15499	T	0.54	.	2.9288	0.05793	0.2058:0.0:0.408:0.3863	.	870	P51805	PLXA3_HUMAN	Q	870	ENSP00000358696:R870Q	ENSP00000358696:R870Q	R	+	2	0	PLXNA3	153347548	0.000000	0.05858	0.234000	0.24042	0.449000	0.32228	0.689000	0.25437	2.204000	0.70986	0.597000	0.82753	CGA	PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153694354	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	0.007	A	A	153694354	G	A	153694354	3	1	132	1	0	0	0	0	1	0	0	0	12145	1058	37	1	2659	1	PLXNA3	23	153694354	Missense_Mutation	SNP	G	TCGA-FU-A3NI-01A-11D-A21Q-09	18746208	153694354	1576206	107	22332										
H6PD	9563	genome.wustl.edu	37	chr1	9324266	9324266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctaagctggctaatgacatcGaggccaccgctgtgcgagcc	12	13	0	1	rs565031451		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:9324266G>A	ENST00000377403.2	+	5	2016	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	H6PD_ENST00000602477.1_Missense_Mutation_p.E583K	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	572	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TAATGACATCGAGGCCACCGC	0.662													G|||	1	0.000199681	0	0	5008	,	,		15611	0		0	False		,,,				2504	0.001																0													14	17	16					1																	9324266		2202	4294	6496	SO:0001583	missense	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1714G>A	1.37:g.9324266G>A	ENSP00000366620:p.Glu572Lys		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.E572K	ENST00000377403.2	37	c.1714	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	G	5.304	0.241386	0.10077	.	.	ENSG00000049239	ENST00000377403	T	0.42131	0.98	5.67	5.67	0.87782	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.105093	0.64402	D	0.000003	T	0.22126	0.0533	N	0.16307	0.4	0.41520	D	0.988396	P	0.45240	0.854	B	0.32149	0.141	T	0.09640	-1.0665	10	0.15066	T	0.55	-32.0135	14.387	0.66953	0.0:0.1474:0.8526:0.0	.	572	O95479	G6PE_HUMAN	K	572	ENSP00000366620:E572K	ENSP00000366620:E572K	E	+	1	0	H6PD	9246853	1.000000	0.71417	0.952000	0.39060	0.038000	0.13279	5.038000	0.64177	2.677000	0.91161	0.561000	0.74099	GAG	H6PD	-	tigrfam_6-phosphogluconolactonase_DevB		0.662	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	G	NM_004285		9324266	1	no_errors	ENST00000377403	ensembl	human	known	70_37	missense	SNP	0.996	A	A	9324266	G	A	9324266	3	1	133	1	0	0	0	0	1	0	0	0	6956	1059	37	1	1728	1	H6PD	1	9324266	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		9324266	239926355	1	22333										
CASZ1	54897	genome.wustl.edu	37	chr1	10720361	10720361	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gagagctgctcgccagccttGagcttgcggatgtactcctc	12	13	0	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:10720361G>A	ENST00000377022.3	-	6	1055	c.738C>T	c.(736-738)ctC>ctT	p.L246L	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.L246L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	246					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCCAGCCTTGAGCTTGCGGA	0.687																																																	0													40	46	44					1																	10720361		2203	4300	6503	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.738C>T	1.37:g.10720361G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L246	ENST00000377022.3	37	c.738	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10720361	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10720361	G	A	10720361	2	1	133	1	0	0	0	0	0	0	0	1	2690	1277	45	1		1	CASZ1	1	10720361	Silent	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	1396095	10720361	238530260	2	22334										
AGMAT	79814	genome.wustl.edu	37	chr1	15904321	15904321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cccatcagaggaaccagcgaCttcatccagcagtcttcagc	8	15	4	1	rs149178480		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:15904321C>T	ENST00000375826.3	-	5	901	c.759G>A	c.(757-759)aaG>aaA	p.K253K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	253					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCAGCGACTTCATCCAGC	0.537																																					NSCLC(126;1678 1780 25805 43508 49531)												0								C		1,4405	2.1+/-5.4	0,1,2202	79	71	74		759	5.8	1	1	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	AGMAT	NM_024758.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		253/353	15904321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79814			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.759G>A	1.37:g.15904321C>T			Q5TDH1|Q9H5J3	Silent	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.K253	ENST00000375826.3	37	c.759	CCDS160.1	1																																																																																			AGMAT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel		0.537	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	HGNC	protein_coding	OTTHUMT00000006763.1	C	NM_024758		15904321	-1	no_errors	ENST00000375826	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15904321	C	T	15904321	2	4	133	1	0	0	0	0	0	0	0	1	385	564	20	4		4	AGMAT	1	15904321	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	5183960	15904321	233346300	3	22335										
NBL1	4681	genome.wustl.edu	37	chr1	19981847	19981847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ggacagtgcttcagctacagCgtccccaacaccttcccaca	7	17	1	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:19981847C>T	ENST00000375136.3	+	3	504	c.201C>T	c.(199-201)agC>agT	p.S67S	NBL1_ENST00000289749.2_Silent_p.S102S|MINOS1-NBL1_ENST00000602662.1_Silent_p.S67S|NBL1_ENST00000548815.1_Silent_p.S66S	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	67	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCTACAGCGTCCCCAACA	0.607																																																	0													215	151	172					1																	19981847		2203	4300	6503	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.201C>T	1.37:g.19981847C>T			A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.S102	ENST00000375136.3	37	c.306	CCDS196.2	1																																																																																			NBL1	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C		0.607	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	C	NM_005380		19981847	1	no_errors	ENST00000289749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19981847	C	T	19981847	2	4	133	1	0	0	0	0	0	0	0	1	10213	767	27	2		2	NBL1	1	19981847	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	4077526	19981847	229268774	4	22336										
TINAGL1	64129	genome.wustl.edu	37	chr1	32050317	32050317	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gaggtgcttcccacagccttCgaggcctctgagaagtggcc	13	13	1	1	rs138221549		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:32050317C>T	ENST00000271064.7	+	6	697	c.621C>T	c.(619-621)ttC>ttT	p.F207F	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.F176F	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	207					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCACAGCCTTCGAGGCCTCTG	0.607																																																	0								C	,,	1,4405		0,1,2202	92	88	90		528,306,621	-4.6	0.8	1	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TINAGL1	NM_001204414.1,NM_001204415.1,NM_022164.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	176/437,102/363,207/468	32050317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64129			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.621C>T	1.37:g.32050317C>T			A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.F207	ENST00000271064.7	37	c.621	CCDS343.1	1																																																																																			TINAGL1	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.607	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	C	NM_022164		32050317	1	no_errors	ENST00000271064	ensembl	human	known	70_37	silent	SNP	0.933	T	T	32050317	C	T	32050317	2	4	133	1	0	0	0	0	0	0	0	1	15952	883	31	1		1	TINAGL1	1	32050317	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	12068470	32050317	217200304	5	22337										
DLGAP3	58512	genome.wustl.edu	37	chr1	35370768	35370768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ccccgctggccctccctcagGgcctaccgacggcccctcac	9	23	2	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:35370768G>A	ENST00000373347.1	-	3	485	c.217C>T	c.(217-219)Cct>Tct	p.P73S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P73S|DLGAP3_ENST00000495979.1_5'UTR			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	73					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTCCCTCAGGGCCTACCGAC	0.687																																																	0													5	6	5					1																	35370768		2097	4152	6249	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.217C>T	1.37:g.35370768G>A	ENSP00000362444:p.Pro73Ser		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.P73S	ENST00000373347.1	37	c.217	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719455	0.68844	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26223	1.75;1.75	4.48	4.48	0.54585	.	0.428537	0.17201	N	0.183120	T	0.36358	0.0964	N	0.22421	0.69	0.51012	D	0.999906	D	0.76494	0.999	D	0.63957	0.92	T	0.27773	-1.0064	10	0.52906	T	0.07	-5.0872	17.1638	0.86810	0.0:0.0:1.0:0.0	.	73	O95886	DLGP3_HUMAN	S	73	ENSP00000362444:P73S;ENSP00000235180:P73S	ENSP00000235180:P73S	P	-	1	0	DLGAP3	35143355	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.948000	0.49066	2.048000	0.60808	0.448000	0.29417	CCT	DLGAP3	-	NULL		0.687	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35370768	-1	no_errors	ENST00000235180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35370768	G	A	35370768	3	1	133	1	0	0	0	0	1	0	0	0	4571	1232	43	4	2762	4	DLGAP3	1	35370768	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	3320451	35370768	213879853	6	22338										
NEGR1	257194	genome.wustl.edu	37	chr1	72400779	72400779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	taccttgcacagttagatgcAcctgcattgttctgggtgta	10	9	1	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:72400779A>G	ENST00000357731.5	-	2	631	c.392T>C	c.(391-393)gTg>gCg	p.V131A	NEGR1_ENST00000306821.3_Missense_Mutation_p.V3A|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.V129A	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	131	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGTTAGATGCACCTGCATTGT	0.388																																																	0													105	95	98					1																	72400779		2203	4300	6503	SO:0001583	missense	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.392T>C	1.37:g.72400779A>G	ENSP00000350364:p.Val131Ala		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V131A	ENST00000357731.5	37	c.392	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778226	0.90195	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.64803	-0.12;1.56;-0.12	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129525	0.52532	D	0.000068	T	0.69967	0.3170	M	0.69248	2.105	0.52099	D	0.999946	D;D	0.65815	0.989;0.995	D;D	0.72338	0.977;0.969	T	0.67906	-0.5549	10	0.27785	T	0.31	-9.0848	15.9686	0.79995	1.0:0.0:0.0:0.0	.	129;131	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	A	131;3;129	ENSP00000350364:V131A;ENSP00000305938:V3A;ENSP00000413294:V129A	ENSP00000305938:V3A	V	-	2	0	NEGR1	72173367	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.339000	0.96797	2.179000	0.69175	0.533000	0.62120	GTG	NEGR1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.388	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	A	NM_173808		72400779	-1	no_errors	ENST00000357731	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72400779	A	G	72400779	3	3	133	1	0	0	0	0	1	0	0	0	10341	159	6	5	696	5	NEGR1	1	72400779	Missense_Mutation	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09	37030011	72400779	176849842	7	22339										
SLAMF9	89886	genome.wustl.edu	37	chr1	159922138	159922138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	aggtgtaggagagggcactgTcccccggcctccaggatgtg	16	11	0	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:159922138T>C	ENST00000368093.3	-	3	694	c.578A>G	c.(577-579)gAc>gGc	p.D193G	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	193	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGGCACTGTCCCCCGGCCT	0.582																																																	0													134	127	129					1																	159922138		2203	4300	6503	SO:0001583	missense	89886			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.578A>G	1.37:g.159922138T>C	ENSP00000357072:p.Asp193Gly		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.D193G	ENST00000368093.3	37	c.578	CCDS1191.1	1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983062	0.34942	.	.	ENSG00000162723	ENST00000368093	T	0.03358	3.96	5.0	5.0	0.66597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.447842	0.23819	N	0.044242	T	0.11836	0.0288	M	0.87097	2.86	0.48571	D	0.999674	D	0.76494	0.999	D	0.68943	0.961	T	0.00603	-1.1649	9	.	.	.	-7.5606	11.103	0.48186	0.0:0.0:0.0:1.0	.	193	Q96A28	SLAF9_HUMAN	G	193	ENSP00000357072:D193G	.	D	-	2	0	SLAMF9	158188762	0.085000	0.21516	0.012000	0.15200	0.025000	0.11179	2.397000	0.44477	1.878000	0.54408	0.528000	0.53228	GAC	SLAMF9	-	pfscan_Ig-like		0.582	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF9	HGNC	protein_coding	OTTHUMT00000060630.1	T	NM_033438		159922138	-1	no_errors	ENST00000368093	ensembl	human	known	70_37	missense	SNP	0.055	C	C	159922138	T	C	159922138	3	2	133	1	0	0	0	0	1	0	0	0	14401	1667	58	5	299	5	SLAMF9	1	159922138	Missense_Mutation	SNP	T	TCGA-FU-A3TQ-01A-11D-A22X-09	87521359	159922138	89328483	8	22340										
SLC45A3	85414	genome.wustl.edu	37	chr1	205628400	205628400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	caagtcgctcttgtcaaataCtacctgtgtagcaaagtaaa	7	9	2	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr1:205628400C>T	ENST00000367145.3	-	5	1919	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	542					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTGTCAAATACTACCTGTGTA	0.552			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	0													70	70	70					1																	205628400		2203	4300	6503	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1624G>A	1.37:g.205628400C>T	ENSP00000356113:p.Val542Ile	2153	A8K2U9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V542I	ENST00000367145.3	37	c.1624	CCDS1458.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583568	0.65992	.	.	ENSG00000158715	ENST00000367145	T	0.49720	0.77	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	N	0.20986	0.625	0.40696	D	0.982447	B	0.32653	0.379	B	0.33196	0.159	T	0.26395	-1.0104	10	0.45353	T	0.12	-12.2981	13.633	0.62206	0.0:0.925:0.0:0.075	.	542	Q96JT2	S45A3_HUMAN	I	542	ENSP00000356113:V542I	ENSP00000356113:V542I	V	-	1	0	SLC45A3	203895023	0.997000	0.39634	0.954000	0.39281	0.988000	0.76386	3.389000	0.52516	2.677000	0.91161	0.591000	0.81541	GTA	SLC45A3	-	NULL		0.552	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	HGNC	protein_coding	OTTHUMT00000090619.1	C	NM_033102		205628400	-1	no_errors	ENST00000367145	ensembl	human	known	70_37	missense	SNP	0.999	T	T	205628400	C	T	205628400	3	4	133	1	0	0	0	0	1	0	0	0	14672	565	20	4	41	4	SLC45A3	1	205628400	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	45706262	205628400	43622221	9	22341										
COLEC11	78989	genome.wustl.edu	37	chr2	3691438	3691438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	acgctgagcatgcccaaggaCgaggctgccaatggcctgat	13	12	0	2	rs150837001		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr2:3691438C>T	ENST00000349077.4	+	7	649	c.546C>T	c.(544-546)gaC>gaT	p.D182D	COLEC11_ENST00000236693.7_Silent_p.D179D|COLEC11_ENST00000382062.2_Silent_p.D158D|COLEC11_ENST00000404205.1_Silent_p.D108D|COLEC11_ENST00000402922.1_Silent_p.D132D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.D196D|COLEC11_ENST00000402794.1_Silent_p.D132D|COLEC11_ENST00000403096.3_Silent_p.D156D	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	182	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGCCCAAGGACGAGGCTGCCA	0.662													C|||	1	0.000199681	0	0	5008	,	,		16291	0		0	False		,,,				2504	0.001																0								C	,	0,4406		0,0,2203	32	34	34		546,537	0.2	1	2	dbSNP_134	34	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	COLEC11	NM_024027.3,NM_199235.1	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	182/272,179/269	3691438	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.546C>T	2.37:g.3691438C>T			A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.D196	ENST00000349077.4	37	c.588	CCDS1649.1	2																																																																																			COLEC11	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	C	NM_024027		3691438	1	no_errors	ENST00000418971	ensembl	human	known	70_37	silent	SNP	0.997	T	T	3691438	C	T	3691438	2	4	133	1	0	0	0	0	0	0	0	1	3716	535	19	2		2	COLEC11	2	3691438	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		3691438	239507935	10	22342										
TTN	7273	genome.wustl.edu	37	chr2	179590682	179590682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ttgtaccataccacctcaaaCggtggtgttcccgaaagttc	8	12	1	0	rs368422028		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr2:179590682C>T	ENST00000591111.1	-	68	19640	c.19416G>A	c.(19414-19416)ccG>ccA	p.P6472P	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P6789P|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P5545P|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12074	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCTCAAACGGTGGTGTTC	0.418																																																	0								C	,,,	0,3786		0,0,1893	92	88	89		,16635,,	-5.1	1	2		89	1,8261		0,1,4130	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6023	TT,TC,CC		0.0121,0.0,0.0083	,,,	,5545/33424,,	179590682	1,12047	1893	4131	6024	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19416G>A	2.37:g.179590682C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P5545	ENST00000591111.1	37	c.16635		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179590682	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.558	T	T	179590682	C	T	179590682	2	4	133	1	0	0	0	0	0	0	0	1	16766	523	19	2		2	TTN	2	179590682	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	175899244	179590682	63608691	11	22343										
SPAG16	79582	genome.wustl.edu	37	chr2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tgacctttgaaggacacagcCgcgcagtgtggtcctgcaca	12	12	0	2	rs142357329	byFrequency	TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr2:214794778C>T	ENST00000331683.5	+	12	1404	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	437					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R437C(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438																																																	2	Substitution - Missense(2)	prostate(2)						C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	113	112	113		1309	5.5	0.8	2	dbSNP_134	113	0,8600		0,0,4300	no	missense	SPAG16	NM_024532.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	437/632	214794778	2,13004	2203	4300	6503	SO:0001583	missense	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1309C>T	2.37:g.214794778C>T	ENSP00000332592:p.Arg437Cys		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R437C	ENST00000331683.5	37	c.1309	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923469	0.52653	4.54E-4	0.0	ENSG00000144451	ENST00000331683;ENST00000374309	D;D	0.81499	-1.5;-1.5	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.332871	0.28376	N	0.015577	D	0.82674	0.5088	L	0.43923	1.385	0.40789	D	0.983242	D;D;D;D	0.58620	0.983;0.979;0.967;0.983	B;B;P;B	0.53062	0.417;0.409;0.717;0.417	D	0.83392	0.0018	10	0.46703	T	0.11	.	17.8902	0.88870	0.0:1.0:0.0:0.0	.	343;288;377;437	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	C	437;343	ENSP00000332592:R437C;ENSP00000363428:R343C	ENSP00000332592:R437C	R	+	1	0	SPAG16	214503023	0.565000	0.26610	0.839000	0.33178	0.039000	0.13416	3.522000	0.53480	2.550000	0.86006	0.655000	0.94253	CGC	SPAG16	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.438	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	C	NM_024532		214794778	1	no_errors	ENST00000331683	ensembl	human	known	70_37	missense	SNP	0.998	T	T	214794778	C	T	214794778	3	4	133	1	0	0	0	0	1	0	0	0	15008	652	23	2	1371	2	SPAG16	2	214794778	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	35204096	214794778	28404595	12	22344										
AGAP1	116987	genome.wustl.edu	37	chr2	236653346	236653346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cttcttctctccctagtttgCcatgtgggtggacgctgtta	10	11	2	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr2:236653346C>A	ENST00000304032.8	+	5	981	c.401C>A	c.(400-402)gCc>gAc	p.A134D	AGAP1_ENST00000409457.1_Missense_Mutation_p.A134D|AGAP1_ENST00000409538.1_Missense_Mutation_p.A399D|AGAP1_ENST00000336665.5_Missense_Mutation_p.A134D|AGAP1_ENST00000428334.2_5'Flank	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	134	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCCTAGTTTGCCATGTGGGTG	0.512																																																	0													144	133	136					2																	236653346		2203	4300	6503	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.401C>A	2.37:g.236653346C>A	ENSP00000307634:p.Ala134Asp		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A134D	ENST00000304032.8	37	c.401	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870009	0.72065	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.36	5.36	0.76844	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.951;0.998	D	0.84414	0.0567	10	0.87932	D	0	.	19.0839	0.93194	0.0:1.0:0.0:0.0	.	134;134	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	D	134;134;134;81;399	ENSP00000387174:A134D;ENSP00000307634:A134D;ENSP00000338378:A134D;ENSP00000385492:A81D;ENSP00000386897:A399D	ENSP00000307634:A134D	A	+	2	0	AGAP1	236318085	1.000000	0.71417	0.997000	0.53966	0.110000	0.19582	7.666000	0.83877	2.513000	0.84729	0.650000	0.86243	GCC	AGAP1	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	C	NM_014914		236653346	1	no_errors	ENST00000304032	ensembl	human	known	70_37	missense	SNP	1.000	A	A	236653346	C	A	236653346	3	1	133	1	0	0	0	0	1	0	0	0	366	739	26	4	419	4	AGAP1	2	236653346	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	21858568	236653346	6546027	13	22345										
STAC	6769	genome.wustl.edu	37	chr3	36534667	36534667	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cagatcttgtggaggttcctGaggaagccaatgggccagga	15	8	1	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr3:36534667G>A	ENST00000273183.3	+	6	1012	c.712G>A	c.(712-714)Gag>Aag	p.E238K	STAC_ENST00000457375.2_Missense_Mutation_p.E177K|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	238					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGAGGTTCCTGAGGAAGCCAA	0.483																																																	0													100	102	101					3																	36534667		2203	4300	6503	SO:0001583	missense	6769			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.712G>A	3.37:g.36534667G>A	ENSP00000273183:p.Glu238Lys		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E238K	ENST00000273183.3	37	c.712	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885487	0.91814	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.76316	-1.01;1.01;0.81	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.989;0.994	D	0.83863	0.0269	10	0.31617	T	0.26	.	16.5657	0.84588	0.0:0.0:1.0:0.0	.	177;238	E9PEA7;Q99469	.;STAC_HUMAN	K	238;177;170;166	ENSP00000273183:E238K;ENSP00000393713:E177K;ENSP00000398403:E166K	ENSP00000273183:E238K	E	+	1	0	STAC	36509671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.111000	0.71541	2.723000	0.93209	0.655000	0.94253	GAG	STAC	-	NULL		0.483	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	G	NM_003149		36534667	1	no_errors	ENST00000273183	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36534667	G	A	36534667	3	1	133	1	0	0	0	0	1	0	0	0	15269	1291	45	1	734	1	STAC	3	36534667	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		36534667	161487763	14	22346										
XYLB	9942	genome.wustl.edu	37	chr3	38408351	38408351	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ccagcagaaccccgaggcctActcacatacggaggttggtt	11	13	1	1	rs552902718		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr3:38408351A>T	ENST00000207870.3	+	7	650	c.560A>T	c.(559-561)tAc>tTc	p.Y187F	XYLB_ENST00000542835.1_Missense_Mutation_p.Y50F	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	187					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CCCGAGGCCTACTCACATACG	0.378																																																	0													83	84	84					3																	38408351		2203	4300	6503	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.560A>T	3.37:g.38408351A>T	ENSP00000207870:p.Tyr187Phe		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N	p.Y187F	ENST00000207870.3	37	c.560	CCDS2678.1	3	.	.	.	.	.	.	.	.	.	.	a	18.94	3.729377	0.69074	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.16597	2.33;2.33	5.43	4.25	0.50352	Carbohydrate kinase, FGGY, N-terminal (1);	0.190005	0.47093	D	0.000259	T	0.30070	0.0753	M	0.72479	2.2	0.34134	D	0.665541	P;B	0.41848	0.763;0.21	P;P	0.51016	0.656;0.582	T	0.43621	-0.9380	10	0.52906	T	0.07	.	10.0788	0.42377	0.9156:0.0:0.0844:0.0	.	50;187	B4DDT2;O75191	.;XYLB_HUMAN	F	187;50	ENSP00000207870:Y187F;ENSP00000443659:Y50F	ENSP00000207870:Y187F	Y	+	2	0	XYLB	38383355	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	3.185000	0.50934	2.202000	0.70862	0.449000	0.29647	TAC	XYLB	-	pfam_Carb_kinase_FGGY_N		0.378	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2	A	NM_005108		38408351	1	no_errors	ENST00000207870	ensembl	human	known	70_37	missense	SNP	0.946	T	T	38408351	A	T	38408351	3	4	133	1	0	0	0	0	1	0	0	0	17493	391	14	5	586	5	XYLB	3	38408351	Missense_Mutation	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09	1873684	38408351	159614079	15	22347										
ATR	545	genome.wustl.edu	37	chr3	142266662	142266662	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	caaaccattaaaaacctgttGatagtgttctccaatacgca	5	10	1	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr3:142266662G>C	ENST00000350721.4	-	16	3383	c.3262C>G	c.(3262-3264)Caa>Gaa	p.Q1088E	ATR_ENST00000383101.3_Missense_Mutation_p.Q1024E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1088					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAAACCTGTTGATAGTGTTCT	0.398								Other conserved DNA damage response genes																																									0													113	110	111					3																	142266662		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3262C>G	3.37:g.142266662G>C	ENSP00000343741:p.Gln1088Glu		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.Q1088E	ENST00000350721.4	37	c.3262	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097576	0.56075	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03124	4.04;4.08	5.89	5.89	0.94794	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	N	0.24115	0.695	0.80722	D	1	B	0.27656	0.184	B	0.25614	0.062	T	0.43310	-0.9399	10	0.06494	T	0.89	-16.7092	20.2566	0.98424	0.0:0.0:1.0:0.0	.	1088	Q13535	ATR_HUMAN	E	1088;1024	ENSP00000343741:Q1088E;ENSP00000372581:Q1024E	ENSP00000343741:Q1088E	Q	-	1	0	ATR	143749352	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.675000	0.98638	2.793000	0.96121	0.561000	0.74099	CAA	ATR	-	superfamily_ARM-type_fold		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	G	NM_001184		142266662	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142266662	G	C	142266662	3	2	133	1	0	0	0	0	1	0	0	0	1205	1299	45	1	4800	1	ATR	3	142266662	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	103858311	142266662	55755768	16	22348										
ACTL6A	86	genome.wustl.edu	37	chr3	179287873	179287873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	aggtggattttcctacagctAttggtatggtggtagaaaga	13	4	0	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr3:179287873A>G	ENST00000429709.2	+	3	334	c.121A>G	c.(121-123)Att>Gtt	p.I41V	ACTL6A_ENST00000450518.2_5'UTR|ACTL6A_ENST00000392662.1_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	41					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCCTACAGCTATTGGTATGGT	0.378																																																	0													150	140	143					3																	179287873		2203	4300	6503	SO:0001583	missense	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.121A>G	3.37:g.179287873A>G	ENSP00000397552:p.Ile41Val		B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.I41V	ENST00000429709.2	37	c.121	CCDS3231.1	3	.	.	.	.	.	.	.	.	.	.	A	5.805	0.332811	0.11013	.	.	ENSG00000136518	ENST00000429709	D	0.93547	-3.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.80336	0.4604	N	0.01618	-0.8	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77670	-0.2501	10	0.02654	T	1	.	15.9692	0.79998	1.0:0.0:0.0:0.0	.	41	O96019	ACL6A_HUMAN	V	41	ENSP00000397552:I41V	ENSP00000397552:I41V	I	+	1	0	ACTL6A	180770567	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	5.961000	0.70356	2.162000	0.67917	0.528000	0.53228	ATT	ACTL6A	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.378	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	A	NM_004301		179287873	1	no_errors	ENST00000429709	ensembl	human	known	70_37	missense	SNP	0.998	G	G	179287873	A	G	179287873	3	3	133	1	0	0	0	0	1	0	0	0	198	449	16	5	131	5	ACTL6A	3	179287873	Missense_Mutation	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09	37021211	179287873	18734557	17	22349										
TMEM156	80008	genome.wustl.edu	37	chr4	39000444	39000444	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cttactggttgcagaaaagtCacaaaagaaaaatttaagga	8	5	1	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr4:39000444C>T	ENST00000381938.3	-	2	281	c.174G>A	c.(172-174)gtG>gtA	p.V58V	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	58						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCAGAAAAGTCACAAAAGAAA	0.363																																																	0													53	54	54					4																	39000444		2203	4300	6503	SO:0001819	synonymous_variant	80008			AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.174G>A	4.37:g.39000444C>T			Q9H5N9	Silent	SNP	NULL	p.V58	ENST00000381938.3	37	c.174	CCDS3448.1	4																																																																																			TMEM156	-	NULL		0.363	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM156	HGNC	protein_coding	OTTHUMT00000250435.3	C	NM_024943		39000444	-1	no_errors	ENST00000381938	ensembl	human	known	70_37	silent	SNP	0.938	T	T	39000444	C	T	39000444	2	4	133	1	0	0	0	0	0	0	0	1	16103	813	29	1		1	TMEM156	4	39000444	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		39000444	152153832	18	22350										
MTHFD2L	441024	genome.wustl.edu	37	chr4	75067078	75067078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	acactgatggagagcatgaaCggccaggaggtaggtagaac	15	7	0	4			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr4:75067078C>T	ENST00000395759.2	+	5	730	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.R177W|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.R177W|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.R100W	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	235					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGAGCATGAACGGCCAGGAGG	0.408																																																	0													101	95	97					4																	75067078		2203	4300	6503	SO:0001583	missense	441024			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.703C>T	4.37:g.75067078C>T	ENSP00000379108:p.Arg235Trp		Q6P079|Q8N560	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.R235W	ENST00000395759.2	37	c.703	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003313	0.54254	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.32515	1.45;1.88;1.46;1.48;1.89	5.97	1.77	0.24775	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.101168	0.64402	D	0.000003	T	0.52789	0.1756	M	0.82323	2.585	0.44508	D	0.997459	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.968	T	0.52837	-0.8522	10	0.66056	D	0.02	-15.9329	8.5829	0.33640	0.4573:0.4661:0.0:0.0766	.	235;177	Q9H903;Q9H903-3	MTD2L_HUMAN;.	W	100;235;177;177;177	ENSP00000405692:R100W;ENSP00000379108:R235W;ENSP00000330982:R177W;ENSP00000352012:R177W;ENSP00000321984:R177W	ENSP00000321984:R177W	R	+	1	2	MTHFD2L	75285942	0.996000	0.38824	0.964000	0.40570	0.801000	0.45260	1.069000	0.30641	0.382000	0.24878	0.585000	0.79938	CGG	MTHFD2L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom		0.408	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		C	NM_001004346		75067078	1	no_errors	ENST00000395759	ensembl	human	known	70_37	missense	SNP	0.931	T	T	75067078	C	T	75067078	3	4	133	1	0	0	0	0	1	0	0	0	9953	527	19	2	721	2	MTHFD2L	4	75067078	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	36066634	75067078	116087198	19	22351										
NR3C2	4306	genome.wustl.edu	37	chr4	149035254	149035254	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ccaaggaggggctctactcaCgtcatgcatggagtccagca	12	12	3	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr4:149035254C>T	ENST00000358102.3	-	8	3162		c.e8+1		NR3C2_ENST00000512865.1_Splice_Site|NR3C2_ENST00000355292.3_Splice_Site|NR3C2_ENST00000511528.1_Splice_Site|NR3C2_ENST00000344721.4_Splice_Site	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCTCTACTCACGTCATGCATG	0.498																																					Melanoma(27;428 957 40335 51025 51111)												0			GRCh37	CS070397	NR3C2	S							120	102	108					4																	149035254		2203	4300	6503	SO:0001630	splice_region_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2799+1G>A	4.37:g.149035254C>T			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Splice_Site	SNP	-	e7+1	ENST00000358102.3	37	c.2811+1	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011609	0.93346	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8441	0.96702	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR3C2	149254704	1.000000	0.71417	0.989000	0.46669	0.915000	0.54546	7.736000	0.84948	2.681000	0.91329	0.650000	0.86243	.	NR3C2	-	-		0.498	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	C		Intron	149035254	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	149035254	C	T	149035254	5	4	133	1	0	0	0	0	0	0	1	0	10655	550	19	2	162	2	NR3C2	4	149035254	Splice_Site	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	73968176	149035254	42119022	20	22352										
PET112L	5188	genome.wustl.edu	37	chr4	152622537	152622537	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctgttggacaagcttctctcGggtcacactggggagctccg	13	12	2	0	rs371263176		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr4:152622537G>A	ENST00000515812.1	-	8	1034	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	PET112_ENST00000263985.6_Nonsense_Mutation_p.R381*																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						AGCTTCTCTCGGGTCACACTG	0.562																																																	0								G	stop/ARG	0,4406		0,0,2203	73	67	69		1141	3.7	1	4		69	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PET112	NM_004564.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		381/558	152622537	1,13005	2203	4300	6503	SO:0001587	stop_gained	5188																														ENST00000515812.1:c.1018C>T	4.37:g.152622537G>A	ENSP00000426859:p.Arg340*			Nonsense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.R381*	ENST00000515812.1	37	c.1141		4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307096	0.81247	0.0	1.16E-4	ENSG00000059691	ENST00000263985;ENST00000515812	.	.	.	5.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6346	13.3439	0.60561	0.0:0.0:0.5629:0.4371	.	.	.	.	X	381;340	.	ENSP00000263985:R381X	R	-	1	2	PET112	152841987	1.000000	0.71417	0.981000	0.43875	0.376000	0.30014	2.854000	0.48325	1.342000	0.45619	0.650000	0.86243	CGA	PET112	-	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,tigrfam_Apn/Gln-ADT_bsu		0.562	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	G			152622537	-1	no_errors	ENST00000263985	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152622537	G	A	152622537	4	1	133	1	0	0	0	0	0	1	0	0	11758	1124	39	2	552	2	PET112L	4	152622537	Nonsense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	3587283	152622537	38531739	21	22353										
PCDHA7	56141	genome.wustl.edu	37	chr5	140216124	140216124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gcttaccctgctgctgtacaCggcgttgcggtgctcagcgc	13	14	1	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr5:140216124C>T	ENST00000525929.1	+	1	2156	c.2156C>T	c.(2155-2157)aCg>aTg	p.T719M	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T719M|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	719					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGTACACGGCGTTGCGG	0.607																																					NSCLC(160;258 2013 5070 22440 28951)												0													106	88	94					5																	140216124		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2156C>T	5.37:g.140216124C>T	ENSP00000436426:p.Thr719Met		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T719M	ENST00000525929.1	37	c.2156	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298369	0.23650	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.15718	2.4;2.4	3.57	0.749	0.18381	.	0.739382	0.10174	U	0.706779	T	0.21718	0.0523	M	0.85462	2.755	0.09310	N	1	P;P	0.41710	0.76;0.647	B;B	0.35413	0.202;0.1	T	0.16129	-1.0413	10	0.54805	T	0.06	.	8.4633	0.32940	0.0:0.6311:0.0:0.3689	.	719;719	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	719	ENSP00000436426:T719M;ENSP00000367365:T719M	ENSP00000367365:T719M	T	+	2	0	PCDHA7	140196308	0.000000	0.05858	0.469000	0.27204	0.694000	0.40290	-1.159000	0.03150	0.304000	0.22809	0.462000	0.41574	ACG	PCDHA7	-	NULL		0.607	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	C	NM_018910		140216124	1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140216124	C	T	140216124	3	4	133	1	0	0	0	0	1	0	0	0	11553	536	19	2	2158	2	PCDHA7	5	140216124	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		140216124	40699136	22	22354										
PCDHB1	29930	genome.wustl.edu	37	chr5	140431083	140431083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gtacgcgcagaaaatctttgCaaaacaggcaagtgggatct	11	8	2	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr5:140431083C>G	ENST00000306549.3	+	1	105	c.28C>G	c.(28-30)Caa>Gaa	p.Q10E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATCTTTGCAAAACAGGCA	0.493																																																	0													69	72	71					5																	140431083		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.28C>G	5.37:g.140431083C>G	ENSP00000307234:p.Gln10Glu		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q10E	ENST00000306549.3	37	c.28	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349317	0.61183	.	.	ENSG00000171815	ENST00000306549	T	0.47528	0.84	5.96	5.08	0.68730	Cadherin (1);	1.068980	0.07393	N	0.889429	T	0.40670	0.1126	L	0.29908	0.895	0.09310	N	1	B	0.16603	0.018	B	0.19391	0.025	T	0.30446	-0.9978	10	0.28530	T	0.3	.	12.5	0.55950	0.167:0.833:0.0:0.0	.	10	Q9Y5F3	PCDB1_HUMAN	E	10	ENSP00000307234:Q10E	ENSP00000307234:Q10E	Q	+	1	0	PCDHB1	140411267	0.043000	0.20138	0.852000	0.33557	0.861000	0.49209	2.159000	0.42339	1.503000	0.48686	0.655000	0.94253	CAA	PCDHB1	-	pfscan_Cadherin		0.493	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	C	NM_013340		140431083	1	no_errors	ENST00000306549	ensembl	human	known	70_37	missense	SNP	0.185	G	G	140431083	C	G	140431083	3	3	133	1	0	0	0	0	1	0	0	0	11558	711	25	4	30	4	PCDHB1	5	140431083	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	214959	140431083	40484177	23	22355										
FAT2	2196	genome.wustl.edu	37	chr5	150947427	150947427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gaatttgagggaagacagttTggaaggtggtaggtgaaagc	17	2	0	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr5:150947427T>G	ENST00000261800.5	-	1	1078	c.1066A>C	c.(1066-1068)Aaa>Caa	p.K356Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	356					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGACAGTTTGGAAGGTGGT	0.542																																																	0													85	93	90					5																	150947427		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1066A>C	5.37:g.150947427T>G	ENSP00000261800:p.Lys356Gln		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.K356Q	ENST00000261800.5	37	c.1066	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	6.872	0.530213	0.13127	.	.	ENSG00000086570	ENST00000261800	T	0.71341	-0.56	5.49	-0.393	0.12438	.	0.813662	0.10975	N	0.613367	T	0.58278	0.2111	L	0.46614	1.455	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47911	-0.9080	10	0.49607	T	0.09	.	5.113	0.14819	0.0:0.1897:0.2638:0.5465	.	356	Q9NYQ8	FAT2_HUMAN	Q	356	ENSP00000261800:K356Q	ENSP00000261800:K356Q	K	-	1	0	FAT2	150927620	0.003000	0.15002	0.001000	0.08648	0.446000	0.32137	0.756000	0.26419	-0.296000	0.08947	0.459000	0.35465	AAA	FAT2	-	NULL		0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	T	NM_001447		150947427	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.003	G	G	150947427	T	G	150947427	3	3	133	1	0	0	0	0	1	0	0	0	5708	1821	63	5	12075	5	FAT2	5	150947427	Missense_Mutation	SNP	T	TCGA-FU-A3TQ-01A-11D-A22X-09	10516344	150947427	29967833	24	22356										
UIMC1	51720	genome.wustl.edu	37	chr5	176395779	176395779	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ggatcagagaaggaggtctaGgtaacactggttccccaaaa	12	8	2	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr5:176395779G>C	ENST00000377227.4	-	6	1109	c.977C>G	c.(976-978)cCt>cGt	p.P326R	UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.P326R|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377219.2_Missense_Mutation_p.P326R			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	326	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGGTCTAGGTAACACTGG	0.443																																																	0													99	94	96					5																	176395779		2203	4300	6503	SO:0001583	missense	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.977C>G	5.37:g.176395779G>C	ENSP00000366434:p.Pro326Arg		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif	p.P326R	ENST00000377227.4	37	c.977	CCDS4408.1	5	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271578	0.59649	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.24723	1.85;1.84;1.85	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000003	T	0.47303	0.1438	L	0.59436	1.845	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.36359	-0.9751	10	0.72032	D	0.01	.	13.648	0.62292	0.0704:0.0:0.9296:0.0	.	326;248	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	R	326;326;326;248	ENSP00000366434:P326R;ENSP00000366425:P326R;ENSP00000421926:P326R	ENSP00000366425:P326R	P	-	2	0	UIMC1	176328385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.780000	0.68956	2.844000	0.97970	0.650000	0.86243	CCT	UIMC1	-	NULL		0.443	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UIMC1	HGNC	protein_coding	OTTHUMT00000253422.1	G	NM_016290		176395779	-1	no_errors	ENST00000377219	ensembl	human	known	70_37	missense	SNP	0.998	C	C	176395779	G	C	176395779	3	2	133	1	0	0	0	0	1	0	0	0	17002	1000	35	4	1222	4	UIMC1	5	176395779	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	25448352	176395779	4519481	25	22357										
SLC17A3	10786	genome.wustl.edu	37	chr6	25855375	25855375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gggagatagtagcttaccaaAgatatagaagacaaagggcc	12	6	0	4			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr6:25855375A>G	ENST00000360657.3	-	5	760	c.475T>C	c.(475-477)Ttt>Ctt	p.F159L	SLC17A3_ENST00000361703.6_Missense_Mutation_p.F159L|SLC17A3_ENST00000397060.4_Missense_Mutation_p.F237L			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	159					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGCTTACCAAAGATATAGAAG	0.403																																																	0													66	62	64					6																	25855375		2203	4300	6503	SO:0001583	missense	10786			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.475T>C	6.37:g.25855375A>G	ENSP00000353873:p.Phe159Leu		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F237L	ENST00000360657.3	37	c.709	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198562	0.58126	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.56776	0.44;0.44;0.44	4.05	2.83	0.33086	Major facilitator superfamily domain, general substrate transporter (1);	0.301676	0.24033	N	0.042173	T	0.44808	0.1311	M	0.65677	2.01	0.44927	D	0.997943	P;B;B;P	0.40834	0.73;0.222;0.01;0.701	P;B;B;P	0.49637	0.599;0.159;0.072;0.617	T	0.47497	-0.9113	10	0.62326	D	0.03	.	6.9637	0.24611	0.7957:0.0:0.0:0.2042	.	159;218;237;159	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	L	237;159;159	ENSP00000380250:F237L;ENSP00000353873:F159L;ENSP00000355307:F159L	ENSP00000353873:F159L	F	-	1	0	SLC17A3	25963354	1.000000	0.71417	0.835000	0.33067	0.614000	0.37383	3.839000	0.55835	0.613000	0.30089	0.528000	0.53228	TTT	SLC17A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.403	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2	A			25855375	-1	no_errors	ENST00000397060	ensembl	human	known	70_37	missense	SNP	0.998	G	G	25855375	A	G	25855375	3	3	133	1	0	0	0	0	1	0	0	0	14448	72	3	5	815	5	SLC17A3	6	25855375	Missense_Mutation	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09		25855375	145259692	26	22358										
HIST1H4F	8361	genome.wustl.edu	37	chr6	26240698	26240698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	aaaggtttaggaaagggaggCgccaagcgccatcgcaaagt	14	8	0	0	rs201737573		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr6:26240698C>T	ENST00000377745.2	+	1	138	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	15					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GAAAGGGAGGCGCCAAGCGCC	0.542																																																	0													46	46	46					6																	26240698		2203	4300	6503	SO:0001819	synonymous_variant	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.45C>T	6.37:g.26240698C>T			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.G15	ENST00000377745.2	37	c.45	CCDS4598.1	6																																																																																			HIST1H4F	-	superfamily_Histone-fold,prints_Histone_H4		0.542	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	C	NM_003540		26240698	1	no_errors	ENST00000377745	ensembl	human	known	70_37	silent	SNP	0.999	T	T	26240698	C	T	26240698	2	4	133	1	0	0	0	0	0	0	0	1	7190	755	27	2		2	HIST1H4F	6	26240698	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	385323	26240698	144874369	27	22359										
HLA-B	3106	genome.wustl.edu	37	chr6	31323001	31323001	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ggtggactgggaagacggctCtgggaaaggaggggaagatg	21	4	1	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr6:31323001C>G	ENST00000412585.2	-	5	924		c.e5-1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GAAGACGGCTCTGGGAAAGGA	0.602									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													60	61	61					6																	31323001		1511	2709	4220	SO:0001630	splice_region_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.896-1G>C	6.37:g.31323001C>G			Q29764	Splice_Site	SNP	-	e5-1	ENST00000412585.2	37	c.896-1	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	.	13.39	2.224133	0.39300	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3839	0.49773	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31430980	1.000000	0.71417	0.512000	0.27736	0.299000	0.27559	3.086000	0.50159	1.804000	0.52760	0.442000	0.29010	.	HLA-B	-	-		0.602	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514	Intron	31323001	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	splice_site	SNP	0.931	G	G	31323001	C	G	31323001	5	3	133	1	0	0	0	0	0	0	1	0	7216	927	32	1	205	1	HLA-B	6	31323001	Splice_Site	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	5082303	31323001	139792066	28	22360										
ZNF76	7629	genome.wustl.edu	37	chr6	35260671	35260671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctcccagccgcctctgcagcCgaggagagtccgccacccaa	10	19	1	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr6:35260671C>T	ENST00000373953.3	+	11	1445	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	ZNF76_ENST00000440666.2_Silent_p.A367A|ZNF76_ENST00000339411.5_Silent_p.A393A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	393					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCTCTGCAGCCGAGGAGAGTC	0.617																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													61	67	65					6																	35260671		2203	4300	6503	SO:0001819	synonymous_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1179C>T	6.37:g.35260671C>T			Q9BQB2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A393	ENST00000373953.3	37	c.1179	CCDS4801.1	6																																																																																			ZNF76	-	NULL		0.617	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	C	NM_003427		35260671	1	no_errors	ENST00000373953	ensembl	human	known	70_37	silent	SNP	0.003	T	T	35260671	C	T	35260671	2	4	133	1	0	0	0	0	0	0	0	1	18165	639	23	2		2	ZNF76	6	35260671	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	3937670	35260671	135854396	29	22361										
ZNF318	24149	genome.wustl.edu	37	chr6	43316363	43316363	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gtttcttgcgcagcatttctCctgagcaatcaaatgtcaac	7	11	4	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr6:43316363C>A	ENST00000361428.2	-	6	2848	c.2771G>T	c.(2770-2772)gGa>gTa	p.G924V	ZNF318_ENST00000318149.3_Splice_Site_p.G924V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	924					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGCATTTCTCCTGAGCAATC	0.418																																																	0													58	54	56					6																	43316363		2203	4300	6503	SO:0001630	splice_region_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2771-1G>T	6.37:g.43316363C>A			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.G924V	ENST00000361428.2	37	c.2771	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233106	0.79688	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.48201	0.82;2.32	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56920	-0.7899	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	924	Q5VUA4	ZN318_HUMAN	V	924	ENSP00000323032:G924V;ENSP00000354964:G924V	ENSP00000323032:G924V	G	-	2	0	ZNF318	43424341	1.000000	0.71417	0.998000	0.56505	0.463000	0.32649	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GGA	ZNF318	-	NULL		0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345	Missense_Mutation	43316363	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43316363	C	A	43316363	5	1	133	1	0	0	0	0	0	0	1	0	17866	869	30	3	4088	3	ZNF318	6	43316363	Splice_Site	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	8055692	43316363	127798704	30	22362										
ENPP3	5169	genome.wustl.edu	37	chr6	131997896	131997896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	aagtgtcccatttgaagagaGgatttctacactgttaaaat	8	6	1	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr6:131997896G>T	ENST00000414305.1	+	11	1221	c.893G>T	c.(892-894)aGg>aTg	p.R298M	ENPP3_ENST00000358229.5_Missense_Mutation_p.R298M|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R298M			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	298	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTGAAGAGAGGATTTCTACA	0.343																																																	0													85	83	84					6																	131997896		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.893G>T	6.37:g.131997896G>T	ENSP00000406261:p.Arg298Met		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.R298M	ENST00000414305.1	37	c.893	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151932	0.78001	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.74737	-0.87;-0.87;-0.87	4.84	4.84	0.62591	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000002	D	0.90356	0.6982	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93691	0.7007	10	0.87932	D	0	-9.9276	17.0968	0.86637	0.0:0.0:1.0:0.0	.	298	O14638	ENPP3_HUMAN	M	298	ENSP00000406261:R298M;ENSP00000350265:R298M;ENSP00000350964:R298M	ENSP00000350265:R298M	R	+	2	0	ENPP3	132039589	1.000000	0.71417	0.398000	0.26321	0.081000	0.17604	7.958000	0.87877	2.401000	0.81631	0.549000	0.68633	AGG	ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.343	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	G			131997896	1	no_errors	ENST00000357639	ensembl	human	known	70_37	missense	SNP	0.966	T	T	131997896	G	T	131997896	3	4	133	1	0	0	0	0	1	0	0	0	5143	1000	35	4	931	4	ENPP3	6	131997896	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	88681533	131997896	39117171	31	22363										
LFNG	3955	genome.wustl.edu	37	chr7	2564882	2564882	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tcatcacaaactgctcggccGcccacagccgccaggcgctg	10	18	2	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr7:2564882G>T	ENST00000222725.5	+	3	531	c.511G>T	c.(511-513)Gcc>Tcc	p.A171S	LFNG_ENST00000402506.1_Missense_Mutation_p.A100S|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Missense_Mutation_p.A171S|LFNG_ENST00000402045.1_Missense_Mutation_p.A42S|LFNG_ENST00000338732.3_Missense_Mutation_p.A42S	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	171					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTCGGCCGCCCACAGCCG	0.677																																																	0													33	36	35					7																	2564882		2202	4299	6501	SO:0001583	missense	3955			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.511G>T	7.37:g.2564882G>T	ENSP00000222725:p.Ala171Ser		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.A171S	ENST00000222725.5	37	c.511	CCDS34587.1	7	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330542	0.60743	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.62105	0.99;0.05;0.05;0.05;0.05	5.18	5.18	0.71444	.	0.102259	0.64402	D	0.000003	T	0.51193	0.1660	L	0.33753	1.03	0.80722	D	1	B;B	0.27264	0.173;0.14	B;B	0.29785	0.073;0.107	T	0.48990	-0.8985	10	0.06099	T	0.92	-28.616	18.6871	0.91568	0.0:0.0:1.0:0.0	.	171;171	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	S	100;42;42;171;171	ENSP00000385764:A100S;ENSP00000384786:A42S;ENSP00000343095:A42S;ENSP00000222725:A171S;ENSP00000352579:A171S	ENSP00000222725:A171S	A	+	1	0	LFNG	2531408	1.000000	0.71417	0.948000	0.38648	0.549000	0.35272	7.393000	0.79851	2.422000	0.82143	0.561000	0.74099	GCC	LFNG	-	pfam_Fringe-like,pirsf_Fringe		0.677	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325021.1	G	NM_002304		2564882	1	no_errors	ENST00000222725	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2564882	G	T	2564882	3	4	133	1	0	0	0	0	1	0	0	0	8757	1087	38	2	797	2	LFNG	7	2564882	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		2564882	156573781	32	22364										
MIOS	54468	genome.wustl.edu	37	chr7	7634623	7634623	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cgttttagggttcacctttaGatgttcttaaagatgaaagg	10	5	2	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr7:7634623G>A	ENST00000340080.4	+	10	2477	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	MIOS_ENST00000405785.1_Missense_Mutation_p.D686N	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	686						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCACCTTTAGATGTTCTTAA	0.353																																																	0													110	104	106					7																	7634623		1797	4069	5866	SO:0001583	missense	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2056G>A	7.37:g.7634623G>A	ENSP00000339881:p.Asp686Asn		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	smart_WD40_repeat	p.D686N	ENST00000340080.4	37	c.2056	CCDS43554.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994197	0.74703	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41065	1.01;1.01	5.58	5.58	0.84498	.	0.171422	0.64402	D	0.000006	T	0.38480	0.1042	L	0.38175	1.15	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.17722	0.019;0.019	T	0.08046	-1.0741	10	0.33940	T	0.23	-28.0674	19.9573	0.97224	0.0:0.0:1.0:0.0	.	686;686	B4DGE7;Q9NXC5	.;MIO_HUMAN	N	686	ENSP00000339881:D686N;ENSP00000384088:D686N	ENSP00000339881:D686N	D	+	1	0	MIOS	7601148	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.413000	0.97351	2.794000	0.96219	0.655000	0.94253	GAT	MIOS	-	NULL		0.353	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	G	NM_019005		7634623	1	no_errors	ENST00000340080	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7634623	G	A	7634623	3	1	133	1	0	0	0	0	1	0	0	0	9612	942	33	1	2082	1	MIOS	7	7634623	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	5069741	7634623	151504040	33	22365										
PDE1C	5137	genome.wustl.edu	37	chr7	31864488	31864488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cttccccactgacctcgaacGcctctgtcctgtcccaccag	6	20	1	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr7:31864488G>A	ENST00000396191.1	-	13	1854	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	PDE1C_ENST00000396193.1_Missense_Mutation_p.R527C|PDE1C_ENST00000396182.2_Missense_Mutation_p.R467C|PDE1C_ENST00000396184.3_Missense_Mutation_p.R467C|PDE1C_ENST00000321453.7_Missense_Mutation_p.R467C	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	467	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GACCTCGAACGCCTCTGTCCT	0.507																																																	0													170	143	152					7																	31864488		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1399C>T	7.37:g.31864488G>A	ENSP00000379494:p.Arg467Cys		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R467C	ENST00000396191.1	37	c.1399	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903749	0.52333	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.75;-0.75	5.82	4.93	0.64822	.	0.139348	0.47852	D	0.000219	T	0.78685	0.4322	L	0.27053	0.805	0.80722	D	1	B;B;D	0.89917	0.38;0.238;1.0	B;B;D	0.71656	0.082;0.042;0.974	T	0.81221	-0.1031	10	0.59425	D	0.04	.	16.1663	0.81759	0.0:0.0:0.8659:0.1341	.	467;527;467	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	C	527;467;467;467;467	ENSP00000379496:R527C;ENSP00000379494:R467C;ENSP00000318105:R467C;ENSP00000379487:R467C;ENSP00000379485:R467C	ENSP00000318105:R467C	R	-	1	0	PDE1C	31831013	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.258000	0.78371	1.445000	0.47624	0.655000	0.94253	CGT	PDE1C	-	NULL		0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	G			31864488	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31864488	G	A	31864488	3	1	133	1	0	0	0	0	1	0	0	0	11659	1087	38	2	525	2	PDE1C	7	31864488	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	24229865	31864488	127274175	34	22366										
DPY19L1	23333	genome.wustl.edu	37	chr7	34979922	34979922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gcaccaggatgtactttgcaAaagagccatccaaatagctg	9	10	0	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr7:34979922A>G	ENST00000310974.4	-	19	1632	c.1488T>C	c.(1486-1488)ttT>ttC	p.F496F	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	496						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTACTTTGCAAAAGAGCCATC	0.368																																																	0													73	62	66					7																	34979922		1858	4090	5948	SO:0001819	synonymous_variant	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1488T>C	7.37:g.34979922A>G			O94954|Q4G151	Silent	SNP	pfam_Dpy-19	p.F496	ENST00000310974.4	37	c.1488	CCDS43567.1	7																																																																																			DPY19L1	-	pfam_Dpy-19		0.368	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	A			34979922	-1	no_errors	ENST00000310974	ensembl	human	known	70_37	silent	SNP	0.814	G	G	34979922	A	G	34979922	2	3	133	1	0	0	0	0	0	0	0	1	4750	11	1	5		5	DPY19L1	7	34979922	Silent	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09	3115434	34979922	124158741	35	22367										
TLN1	7094	genome.wustl.edu	37	chr9	35717356	35717356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctgggaggcagacacacagcCctccacggctttggctacca	11	15	0	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr9:35717356C>T	ENST00000314888.9	-	19	2598	c.2245G>A	c.(2245-2247)Ggc>Agc	p.G749S	TLN1_ENST00000540444.1_Missense_Mutation_p.G749S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	749					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACACAGCCCTCCACGGCT	0.582																																																	0													71	67	68					9																	35717356		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2245G>A	9.37:g.35717356C>T	ENSP00000316029:p.Gly749Ser		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.G749S	ENST00000314888.9	37	c.2245	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030264	0.35797	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.67865	-0.28;-0.29	5.6	3.77	0.43336	.	0.158151	0.56097	N	0.000026	T	0.52468	0.1736	L	0.42245	1.32	0.58432	D	0.999997	B	0.13145	0.007	B	0.08055	0.003	T	0.38308	-0.9667	10	0.10111	T	0.7	-13.9638	9.7318	0.40366	0.0:0.7888:0.0:0.2112	.	749	Q9Y490	TLN1_HUMAN	S	749	ENSP00000316029:G749S;ENSP00000442981:G749S	ENSP00000316029:G749S	G	-	1	0	TLN1	35707356	0.988000	0.35896	1.000000	0.80357	0.960000	0.62799	1.784000	0.38674	0.749000	0.32854	-0.224000	0.12420	GGC	TLN1	-	NULL		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289		35717356	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35717356	C	T	35717356	3	4	133	1	0	0	0	0	1	0	0	0	15977	623	22	4	5536	4	TLN1	9	35717356	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		35717356	105496075	36	22368										
C9orf79	286234	genome.wustl.edu	37	chr9	90499541	90499541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tgagggagctggaggagactCgggacctgaactaccttctg	15	9	1	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr9:90499541C>T	ENST00000325643.5	+	3	466	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	134					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGGAGACTCGGGACCTGAA	0.592																																																	0													89	90	90					9																	90499541		2203	4300	6503	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.400C>T	9.37:g.90499541C>T	ENSP00000322640:p.Arg134Trp		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.R134W	ENST00000325643.5	37	c.400	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	.	10.10	1.256502	0.22965	.	.	ENSG00000177992	ENST00000325643	T	0.03831	3.79	2.05	-0.0221	0.13948	.	2.472990	0.01851	N	0.035927	T	0.03263	0.0095	N	0.17800	0.525	0.09310	N	1	P	0.36647	0.563	B	0.30495	0.116	T	0.30794	-0.9966	10	0.38643	T	0.18	.	2.565	0.04781	0.2829:0.5369:0.0:0.1802	.	134	Q6ZUB1	CI079_HUMAN	W	134	ENSP00000322640:R134W	ENSP00000322640:R134W	R	+	1	2	C9orf79	89689361	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.800000	0.04555	-0.006000	0.14370	0.508000	0.49915	CGG	SPATA31E1	-	NULL		0.592	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	C	NM_178828		90499541	1	no_errors	ENST00000325643	ensembl	human	known	70_37	missense	SNP	0.001	T	T	90499541	C	T	90499541	3	4	133	1	0	0	0	0	1	0	0	0	2502	875	31	1	410	1	C9orf79	9	90499541	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	54782185	90499541	50713890	37	22369										
SET	6418	genome.wustl.edu	37	chr9	131454136	131454136	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	atctcttttcatttgcttcaGacttaatgaacaagccagtg	6	9	3	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr9:131454136G>C	ENST00000372692.4	+	3	411		c.e3-1		SET_ENST00000409104.3_Splice_Site|SET_ENST00000372688.4_Splice_Site|SET_ENST00000322030.8_Splice_Site|SET_ENST00000477806.1_Splice_Site	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene						DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		ATTTGCTTCAGACTTAATGAA	0.333			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													18	18	18					9																	131454136		2192	4291	6483	SO:0001630	splice_region_variant	6418			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.171-1G>C	9.37:g.131454136G>C			A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Splice_Site	SNP	-	e3-1	ENST00000372692.4	37	c.171-1	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838598	0.71373	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3156	0.87222	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SET	130493957	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.075000	0.94004	2.312000	0.78011	0.555000	0.69702	.	SET	-	-		0.333	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	G	NM_001122821	Intron	131454136	1	no_errors	ENST00000372692	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	131454136	G	C	131454136	5	2	133	1	0	0	0	0	0	0	1	0	14158	956	33	1	257	1	SET	9	131454136	Splice_Site	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	40954595	131454136	9759295	38	22370										
PTCHD3	374308	genome.wustl.edu	37	chr10	27702694	27702694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tcctctaggtcttcctcttcGtccttgggtaggtacaggaa	10	11	3	0	rs140783092		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr10:27702694G>A	ENST00000438700.3	-	1	603	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	162					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTCCTCTTCGTCCTTGGGTA	0.662																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	86	95	92		486	-7.2	0	10	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		162/768	27702694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.486C>T	10.37:g.27702694G>A			I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.D162	ENST00000438700.3	37	c.486	CCDS31173.1	10																																																																																			PTCHD3	-	NULL		0.662	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	G	XM_370541		27702694	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	silent	SNP	0.000	A	A	27702694	G	A	27702694	2	1	133	1	0	0	0	0	0	0	0	1	12761	1136	40	2		2	PTCHD3	10	27702694	Silent	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		27702694	107832053	39	22371										
PTEN	5728	genome.wustl.edu	37	chr10	89624269	89624269	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tcgttagcagaaacaaaaggAgatatcaagaggatggattc	11	5	1	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr10:89624269A>T	ENST00000371953.3	+	1	1400	c.43A>T	c.(43-45)Aga>Tga	p.R15*	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> S (in glioma). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.N12fs*6(1)|p.R14fs*26(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACAAAAGGAGATATCAAGA	0.478		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	53	Whole gene deletion(37)|Unknown(13)|Deletion - Frameshift(2)|Deletion - In frame(1)	prostate(14)|central_nervous_system(11)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(1)											183	175	178					10																	89624269		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.43A>T	10.37:g.89624269A>T	ENSP00000361021:p.Arg15*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R15*	ENST00000371953.3	37	c.43	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	49	15.367130	0.99831	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.05	5.05	0.67936	.	0.105614	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232	9.6456	0.39865	0.6992:0.3008:0.0:0.0	.	.	.	.	X	15	.	.	R	+	1	2	PTEN	89614249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.222000	0.51223	1.891000	0.54761	0.459000	0.35465	AGA	PTEN	-	pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	A	NM_000314		89624269	1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	89624269	A	T	89624269	4	4	133	1	0	0	0	0	0	1	0	0	12765	296	11	5	45	5	PTEN	10	89624269	Nonsense_Mutation	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09	61921575	89624269	45910478	40	22372										
OR51A4	401666	genome.wustl.edu	37	chr11	4967395	4967395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gtcacatatgactgttaaatCttccgttgacacaattttgc	6	9	2	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr11:4967395C>A	ENST00000380373.2	-	1	961	c.936G>T	c.(934-936)aaG>aaT	p.K312N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTTAAATCTTCCGTTGAC	0.338																																																	0													115	116	116					11																	4967395		2199	4298	6497	SO:0001583	missense	401666			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.936G>T	11.37:g.4967395C>A	ENSP00000369731:p.Lys312Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K312N	ENST00000380373.2	37	c.936	CCDS31367.1	11	.	.	.	.	.	.	.	.	.	.	C	7.083	0.570623	0.13560	.	.	ENSG00000205497	ENST00000380373	T	0.39787	1.06	2.47	-1.2	0.09554	.	.	.	.	.	T	0.25457	0.0619	L	0.34521	1.04	0.09310	N	1	B	0.33413	0.411	B	0.24155	0.051	T	0.10636	-1.0621	9	0.56958	D	0.05	.	6.6927	0.23181	0.0:0.5214:0.0:0.4786	.	312	Q8NGJ6	O51A4_HUMAN	N	312	ENSP00000369731:K312N	ENSP00000369731:K312N	K	-	3	2	OR51A4	4923971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.009000	0.13219	-0.256000	0.09473	0.549000	0.68633	AAG	OR51A4	-	NULL		0.338	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1	C	NM_001005329		4967395	-1	no_errors	ENST00000380373	ensembl	human	known	70_37	missense	SNP	0.000	A	A	4967395	C	A	4967395	3	1	133	1	0	0	0	0	1	0	0	0	11111	912	32	3	7	3	OR51A4	11	4967395	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		4967395	130039121	41	22373										
KRT6A	3853	genome.wustl.edu	37	chr12	52881697	52881697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctaagccactgccgacaccaCtggcaccgccatagccactg	8	18	0	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr12:52881697C>T	ENST00000330722.6	-	9	1570	c.1502G>A	c.(1501-1503)aGt>aAt	p.S501N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	501	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGACACCACTGGCACCGCC	0.607																																																	0													59	64	62					12																	52881697		2203	4300	6503	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1502G>A	12.37:g.52881697C>T	ENSP00000369317:p.Ser501Asn		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S501N	ENST00000330722.6	37	c.1502	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	6.670	0.492181	0.12702	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.87334	-2.24	4.94	4.03	0.46877	.	0.624751	0.14268	N	0.330377	D	0.85703	0.5758	M	0.78637	2.42	0.09310	N	1	B	0.23058	0.079	B	0.21546	0.035	T	0.73814	-0.3864	10	0.26408	T	0.33	.	9.9245	0.41483	0.0:0.7826:0.1407:0.0766	.	501	P02538	K2C6A_HUMAN	N	501;457	ENSP00000369317:S501N	ENSP00000369317:S501N	S	-	2	0	KRT6A	51167964	0.002000	0.14202	0.002000	0.10522	0.008000	0.06430	1.150000	0.31639	1.171000	0.42768	0.586000	0.80456	AGT	KRT6A	-	NULL		0.607	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	C	NM_005554		52881697	-1	no_errors	ENST00000330722	ensembl	human	known	70_37	missense	SNP	0.007	T	T	52881697	C	T	52881697	3	4	133	1	0	0	0	0	1	0	0	0	8500	565	20	4	196	4	KRT6A	12	52881697	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		52881697	80970198	42	22374										
SFRS9	8683	genome.wustl.edu	37	chr12	120899902	120899902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	acggccccttgacccagaccGagaccgtgagtagccatagc	11	15	0	4			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr12:120899902G>A	ENST00000229390.3	-	4	769	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	196	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						GACCCAGACCGAGACCGTGAG	0.488																																																	0													52	47	49					12																	120899902		2203	4300	6503	SO:0001583	missense	8683			U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10791	protein-coding gene	gene with protein product	"SR splicing factor 9"	601943	"splicing factor, arginine/serine-rich 9"	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.586C>T	12.37:g.120899902G>A	ENSP00000229390:p.Arg196Trp		Q52LD1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R196W	ENST00000229390.3	37	c.586	CCDS9199.1	12	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726829	0.69074	.	.	ENSG00000111786	ENST00000229390	T	0.11495	2.77	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.62088	1.915	0.80722	D	1	B	0.18310	0.027	B	0.09377	0.004	T	0.03545	-1.1026	10	0.87932	D	0	.	8.1415	0.31086	0.0728:0.0:0.6465:0.2807	.	196	Q13242	SRSF9_HUMAN	W	196	ENSP00000229390:R196W	ENSP00000229390:R196W	R	-	1	2	SRSF9	119384285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.218000	0.58554	0.897000	0.36392	-0.136000	0.14681	CGG	SRSF9	-	NULL		0.488	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF9	HGNC	protein_coding	OTTHUMT00000108983.2	G	NM_003769		120899902	-1	no_errors	ENST00000229390	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120899902	G	A	120899902	3	1	133	1	0	0	0	0	1	0	0	0	14214	1057	37	1	83	1	SFRS9	12	120899902	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	68018205	120899902	12951993	43	22375										
OR11H12	440153	genome.wustl.edu	37	chr14	19377748	19377748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctttactacaacatatgcacTgactataacagggaatggag	8	8	0	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr14:19377748T>G	ENST00000550708.1	+	1	227	c.155T>G	c.(154-156)cTg>cGg	p.L52R		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATATGCACTGACTATAACA	0.413																																																	0													62	69	66					14																	19377748		2086	4166	6252	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.155T>G	14.37:g.19377748T>G	ENSP00000449002:p.Leu52Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L52R	ENST00000550708.1	37	c.155	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	t	9.464	1.093949	0.20471	.	.	ENSG00000257115	ENST00000550708	T	0.00453	7.33	.	.	.	.	0.240128	0.20954	N	0.082684	T	0.00936	0.0031	M	0.94142	3.5	0.26746	N	0.970297	D	0.58268	0.982	P	0.53450	0.726	T	0.21449	-1.0245	8	0.87932	D	0	.	5.0207	0.14360	0.0:2.0E-4:0.0:0.9998	.	52	B2RN74	O11HC_HUMAN	R	52	ENSP00000449002:L52R	ENSP00000449002:L52R	L	+	2	0	CR383656.1	18447748	0.002000	0.14202	0.796000	0.32109	0.045000	0.14185	0.725000	0.25970	0.348000	0.23949	0.055000	0.15244	CTG	OR11H12	-	prints_GPCR_Rhodpsn		0.413	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	T	NM_001013354		19377748	1	no_errors	ENST00000550708	ensembl	human	known	70_37	missense	SNP	0.014	G	G	19377748	T	G	19377748	3	3	133	1	0	0	0	0	1	0	0	0	10951	1580	55	5	157	5	OR11H12	14	19377748	Missense_Mutation	SNP	T	TCGA-FU-A3TQ-01A-11D-A22X-09		19377748	87971792	44	22376										
MYH7	4625	genome.wustl.edu	37	chr14	23884925	23884925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cgctctgtctgctccaccacGgcacgcaactcctccagctc	7	20	2	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr14:23884925G>A	ENST00000355349.3	-	35	5232	c.5070C>T	c.(5068-5070)gcC>gcT	p.A1690A	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1690					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCACCACGGCACGCAACT	0.632																																																	0													73	65	68					14																	23884925		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5070C>T	14.37:g.23884925G>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1690	ENST00000355349.3	37	c.5070	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_tail		0.632	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	G	NM_000257		23884925	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	0.085	A	A	23884925	G	A	23884925	2	1	133	1	0	0	0	0	0	0	0	1	10062	1103	39	2		2	MYH7	14	23884925	Silent	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	4507177	23884925	83464615	45	22377										
FANCM	57697	genome.wustl.edu	37	chr14	45620690	45620690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	caaaatatcagataattctgGcaagagatcagtttaggaaa	8	5	3	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr14:45620690G>T	ENST00000267430.5	+	5	1094	c.1009G>T	c.(1009-1011)Gca>Tca	p.A337S	FANCM_ENST00000542564.2_Missense_Mutation_p.A311S|FANCM_ENST00000556036.1_Missense_Mutation_p.A337S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	337					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATAATTCTGGCAAGAGATCA	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													74	76	76					14																	45620690		2203	4299	6502	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1009G>T	14.37:g.45620690G>T	ENSP00000267430:p.Ala337Ser		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A337S	ENST00000267430.5	37	c.1009	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982268	0.53827	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.14266	2.58;2.54;2.52	5.41	5.41	0.78517	.	0.163440	0.53938	D	0.000049	T	0.13713	0.0332	L	0.33093	0.98	0.44439	D	0.997361	B;B;B	0.33212	0.23;0.402;0.314	B;B;B	0.38458	0.253;0.168;0.274	T	0.11108	-1.0601	10	0.28530	T	0.3	.	13.724	0.62748	0.0:0.0:0.8458:0.1542	.	311;337;337	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	S	337;337;311	ENSP00000450596:A337S;ENSP00000267430:A337S;ENSP00000442493:A311S	ENSP00000267430:A337S	A	+	1	0	FANCM	44690440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.388000	0.73195	2.524000	0.85096	0.655000	0.94253	GCA	FANCM	-	NULL		0.318	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	G	XM_048128		45620690	1	no_errors	ENST00000267430	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45620690	G	T	45620690	3	4	133	1	0	0	0	0	1	0	0	0	5689	1203	42	4	1027	4	FANCM	14	45620690	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	21735765	45620690	61728850	46	22378										
C14orf106	55320	genome.wustl.edu	37	chr14	45693777	45693777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	actgctttgatggtgccagcGgacagattatacctcatgca	10	10	1	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr14:45693777G>A	ENST00000310806.4	-	11	2471	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	671					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGGTGCCAGCGGACAGATTAT	0.363																																																	0													138	138	138					14																	45693777		2203	4300	6503	SO:0001819	synonymous_variant	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2013C>T	14.37:g.45693777G>A			D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S671	ENST00000310806.4	37	c.2013	CCDS9684.1	14																																																																																			MIS18BP1	-	NULL		0.363	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	G			45693777	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	silent	SNP	0.001	A	A	45693777	G	A	45693777	2	1	133	1	0	0	0	0	0	0	0	1	1742	1103	39	2		2	C14orf106	14	45693777	Silent	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	73087	45693777	61655763	47	22379										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68244947	68244947	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ggggtacaggcagccccactCttcacacagttcatactcct	8	15	3	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr14:68244947C>G	ENST00000347230.4	-	24	4831	c.4693G>C	c.(4693-4695)Gag>Cag	p.E1565Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1565Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1565					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCCCCACTCTTCACACAGT	0.463																																																	0													142	137	139					14																	68244947		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4693G>C	14.37:g.68244947C>G	ENSP00000251119:p.Glu1565Gln		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E1565Q	ENST00000347230.4	37	c.4693	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349298	0.41599	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28666	1.74;1.6	6.03	6.03	0.97812	.	0.310631	0.34777	N	0.003690	T	0.32704	0.0838	L	0.46157	1.445	0.47862	D	0.999539	B;B	0.22003	0.063;0.027	B;B	0.21151	0.033;0.012	T	0.03306	-1.1050	10	0.30078	T	0.28	-14.9887	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1565;1565	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Q	1565;1544;1565	ENSP00000251119:E1565Q;ENSP00000450603:E1565Q	ENSP00000251119:E1565Q	E	-	1	0	ZFYVE26	67314700	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.703000	0.37846	2.854000	0.98071	0.655000	0.94253	GAG	ZFYVE26	-	NULL		0.463	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68244947	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68244947	C	G	68244947	3	3	133	1	0	0	0	0	1	0	0	0	17698	922	32	1	3002	1	ZFYVE26	14	68244947	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	22551170	68244947	39104593	48	22380										
TBC1D2B	23102	genome.wustl.edu	37	chr15	78316871	78316871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ggactgtctgctggagcagtCgaacaagctcctgggagcca	14	11	1	0	rs201555902		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr15:78316871C>T	ENST00000300584.3	-	6	1096	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.R366Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	366							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTGGAGCAGTCGAACAAGCTC	0.517																																																	0													40	44	43					15																	78316871		2196	4293	6489	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1097G>A	15.37:g.78316871C>T	ENSP00000300584:p.Arg366Gln		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R366Q	ENST00000300584.3	37	c.1097	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.531057|3.531057	0.64972|0.64972	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.08458	.|3.09;3.09	5.55|5.55	4.63|4.63	0.57726|0.57726	.|.	.|0.055106	.|0.64402	.|N	.|0.000002	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.41710|0.41710	1.295|1.295	0.54753|0.54753	D|D	0.999985|0.999985	.|B;B	.|0.30033	.|0.266;0.174	.|B;B	.|0.19946	.|0.027;0.007	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.44086	.|T	.|0.13	.|.	13.8686|13.8686	0.63603|0.63603	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	.|366;366	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	N|Q	248|366;366;254	.|ENSP00000387165:R366Q;ENSP00000300584:R366Q	.|ENSP00000300584:R366Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76103926|76103926	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.989000|0.989000	0.77384|0.77384	4.527000|4.527000	0.60573|0.60573	1.308000|1.308000	0.44962|0.44962	0.491000|0.491000	0.48974|0.48974	GAC|CGA	TBC1D2B	-	NULL		0.517	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	C	NM_015079		78316871	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	0.978	T	T	78316871	C	T	78316871	3	4	133	1	0	0	0	0	1	0	0	0	15649	884	31	1	1826	1	TBC1D2B	15	78316871	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		78316871	24214521	49	22381										
ZC3H18	124245	genome.wustl.edu	37	chr16	88666329	88666329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ttttcgagattggaattctcGgatcccgagagatgtcagag	12	7	2	3	rs267604676		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr16:88666329G>A	ENST00000301011.5	+	6	1261	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R378Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	354						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R354L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGGAATTCTCGGATCCCGAGA	0.512																																					Ovarian(121;375 2276 20373 38669)												1	Substitution - Missense(1)	lung(1)											100	110	107					16																	88666329		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1061G>A	16.37:g.88666329G>A	ENSP00000301011:p.Arg354Gln		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.R354Q	ENST00000301011.5	37	c.1061	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734093	0.69189	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.35048	1.33;1.35	5.16	4.2	0.49525	.	0.054916	0.85682	N	0.000000	T	0.49474	0.1559	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	P;P;P	0.60345	0.67;0.873;0.67	T	0.42224	-0.9464	10	0.28530	T	0.3	-17.6934	11.6242	0.51136	0.0825:0.0:0.9175:0.0	.	378;378;354	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	354;378;378;237	ENSP00000301011:R354Q;ENSP00000416951:R378Q	ENSP00000289509:R378Q	R	+	2	0	ZC3H18	87193830	1.000000	0.71417	0.135000	0.22099	0.813000	0.45954	9.201000	0.95017	1.162000	0.42619	0.561000	0.74099	CGG	ZC3H18	-	NULL		0.512	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	G	NM_144604		88666329	1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88666329	G	A	88666329	3	1	133	1	0	0	0	0	1	0	0	0	17598	1116	39	2	1079	2	ZC3H18	16	88666329	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		88666329	1688424	50	22382										
SLC16A5	9121	genome.wustl.edu	37	chr17	73100198	73100198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gagcaaggcaagcaggctgtCgcggcggatgccctggagcg	18	11	0	0	rs535752297		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr17:73100198C>T	ENST00000450736.2	+	5	1702	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V	SLC16A5_ENST00000329783.4_Silent_p.V429V|SLC16A5_ENST00000538213.2_Silent_p.V469V|SLC16A5_ENST00000580123.1_Silent_p.V429V			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	429					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCAGGCTGTCGCGGCGGATG	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		19694	0		0	False		,,,				2504	0																0													80	75	77					17																	73100198		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1287C>T	17.37:g.73100198C>T			B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.V429	ENST00000450736.2	37	c.1287	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,tigrfam_Monocarb_transpt		0.552	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73100198	1	no_errors	ENST00000329783	ensembl	human	known	70_37	silent	SNP	0.000	T	T	73100198	C	T	73100198	2	4	133	1	0	0	0	0	0	0	0	1	14441	871	31	1		1	SLC16A5	17	73100198	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		73100198	8095012	51	22383										
ZNF750	79755	genome.wustl.edu	37	chr17	80789577	80789578	+	Frame_Shift_Ins	INS	-	-	C													0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ggcgagtagatggtggccagINScccgtgctctgtgtaaaagt							TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr17:80789577_80789578insC	ENST00000269394.3	-	2	1586_1587	c.753_754insG	c.(751-756)gggctgfs	p.L252fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	252					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGGTGGCCAGCCCGTGCTCTG	0.564																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.754dupG	17.37:g.80789580_80789580dupC	ENSP00000269394:p.Leu252fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.L251fs	ENST00000269394.3	37	c.754_753	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.564	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789578	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	0.984:0.292	C	C	80789578	-	C	80789577	7	5	133	1	0	1	1	0	0	0	0	0	18162	962	34	0	1425	0	ZNF750	17	80789577	Frame_Shift_Ins	INS	-	TCGA-FU-A3TQ-01A-11D-A22X-09	7689379	80789577	405633	52	22384										
DHPS	1725	genome.wustl.edu	37	chr19	12788010	12788010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tggcaaagatggcctgtgtgTtgatgagcctcaggtctggg	16	7	2	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr19:12788010T>C	ENST00000210060.7	-	7	935	c.800A>G	c.(799-801)aAc>aGc	p.N267S	DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000594424.1_Missense_Mutation_p.N225S|DHPS_ENST00000351660.5_Intron	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	267					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						GGCCTGTGTGTTGATGAGCCT	0.607																																																	0													109	90	97					19																	12788010		2203	4300	6503	SO:0001583	missense	1725			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.800A>G	19.37:g.12788010T>C	ENSP00000210060:p.Asn267Ser		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.N267S	ENST00000210060.7	37	c.800	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065924	0.55539	.	.	ENSG00000095059	ENST00000210060	T	0.45668	0.89	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.70234	-0.4928	10	0.87932	D	0	-29.8789	13.1023	0.59226	0.0:0.0:0.0:1.0	.	267	P49366	DHYS_HUMAN	S	267	ENSP00000210060:N267S	ENSP00000210060:N267S	N	-	2	0	DHPS	12649010	1.000000	0.71417	0.997000	0.53966	0.414000	0.31173	6.642000	0.74329	2.040000	0.60383	0.379000	0.24179	AAC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase		0.607	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	T	NM_001930		12788010	-1	no_errors	ENST00000210060	ensembl	human	known	70_37	missense	SNP	0.999	C	C	12788010	T	C	12788010	3	2	133	1	0	0	0	0	1	0	0	0	4495	1725	60	5	321	5	DHPS	19	12788010	Missense_Mutation	SNP	T	TCGA-FU-A3TQ-01A-11D-A22X-09		12788010	46340973	53	22385										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38655260	38655260	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tctccaagggtggctctagtGacagcggcatcgacaccacc	11	14	2	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr19:38655260G>T	ENST00000222345.6	+	15	4431	c.3922G>T	c.(3922-3924)Gac>Tac	p.D1308Y		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1308					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGCTCTAGTGACAGCGGCAT	0.652																																																	0													72	62	66					19																	38655260		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3922G>T	19.37:g.38655260G>T	ENSP00000222345:p.Asp1308Tyr		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.D1308Y	ENST00000222345.6	37	c.3922	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798097	0.70567	.	.	ENSG00000105738	ENST00000222345	T	0.59224	0.28	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.74527	0.3728	M	0.69523	2.12	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.77887	-0.2420	10	0.59425	D	0.04	-34.2742	16.0588	0.80822	0.0:0.0:1.0:0.0	.	1308	O60292	SI1L3_HUMAN	Y	1308	ENSP00000222345:D1308Y	ENSP00000222345:D1308Y	D	+	1	0	SIPA1L3	43347100	1.000000	0.71417	0.998000	0.56505	0.472000	0.32918	7.627000	0.83176	2.055000	0.61198	0.650000	0.86243	GAC	SIPA1L3	-	NULL		0.652	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38655260	1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38655260	G	T	38655260	3	4	133	1	0	0	0	0	1	0	0	0	14361	1290	45	3	3972	3	SIPA1L3	19	38655260	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	25867250	38655260	20473723	54	22386										
C20orf12	55184	genome.wustl.edu	37	chr20	18445975	18445975	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cactcgtaatggtatgatctGagggacacacactgaaccag	10	10	1	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr20:18445975G>C	ENST00000358866.6	-	1	50	c.28C>G	c.(28-30)Cag>Gag	p.Q10E	DZANK1_ENST00000329494.5_Missense_Mutation_p.Q10E|DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.Q10E|POLR3F_ENST00000377603.4_5'Flank			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	10							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGTATGATCTGAGGGACACAC	0.373																																																	0													103	92	96					20																	18445975		1902	4119	6021	SO:0001583	missense	55184			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.28C>G	20.37:g.18445975G>C	ENSP00000351734:p.Gln10Glu		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.Q10E	ENST00000358866.6	37	c.28	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554587	0.65425	.	.	ENSG00000089091	ENST00000262547;ENST00000329494	T;T	0.64260	-0.09;0.58	5.53	5.53	0.82687	.	0.342769	0.19288	U	0.117979	T	0.78020	0.4218	M	0.61703	1.905	0.80722	D	1	D;P	0.69078	0.997;0.73	D;B	0.78314	0.991;0.147	T	0.78224	-0.2287	10	0.59425	D	0.04	-10.4566	18.2359	0.89949	0.0:0.0:1.0:0.0	.	10;10	B7Z631;Q9NVP4	.;DZAN1_HUMAN	E	10	ENSP00000262547:Q10E;ENSP00000328866:Q10E	ENSP00000262547:Q10E	Q	-	1	0	C20orf12	18393975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.509000	0.67012	2.587000	0.87381	0.655000	0.94253	CAG	DZANK1	-	NULL		0.373	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	G	NM_001099407		18445975	-1	no_errors	ENST00000262547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18445975	G	C	18445975	3	2	133	1	0	0	0	0	1	0	0	0	2090	1299	45	1	2310	1	C20orf12	20	18445975	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		18445975	44579545	55	22387										
RUNX1	861	genome.wustl.edu	37	chr21	36164595	36164595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tggtgcagggcggcaggatgCgcggcggcgagcgctcgccg	21	12	0	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr21:36164595C>T	ENST00000344691.4	-	6	2776	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	RUNX1_ENST00000399240.1_Missense_Mutation_p.R336H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R427H|RUNX1_ENST00000325074.5_Missense_Mutation_p.R415H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R427H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	400	Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGCAGGATGCGCGGCGGCGA	0.721			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													9	11	10					21																	36164595		2041	4015	6056	SO:0001583	missense	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.1199G>A	21.37:g.36164595C>T	ENSP00000340690:p.Arg400His		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.R427H	ENST00000344691.4	37	c.1280	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.287693	0.95517	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.01	5.01	0.66863	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.79784	0.926;0.993;0.98	T	0.68447	-0.5406	10	0.87932	D	0	-20.495	17.9043	0.88914	0.0:1.0:0.0:0.0	.	427;415;400	Q01196-8;Q01196-10;Q01196	.;.;RUNX1_HUMAN	H	400;427;427;415;336;403	ENSP00000340690:R400H;ENSP00000300305:R427H;ENSP00000409227:R427H;ENSP00000319459:R415H;ENSP00000382184:R336H	ENSP00000300305:R427H	R	-	2	0	RUNX1	35086465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.234000	0.78134	2.320000	0.78422	0.557000	0.71058	CGC	RUNX1	-	pfam_RunxI,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt		0.721	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	C			36164595	-1	no_errors	ENST00000300305	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36164595	C	T	36164595	3	4	133	1	0	0	0	0	1	0	0	0	13776	768	27	2	166	2	RUNX1	21	36164595	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		36164595	11965300	56	22388										
DOPEY2	9980	genome.wustl.edu	37	chr21	37602874	37602874	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tcgggctcagtgcctcgtcaCcggagctctctgagcacttg	12	14	3	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr21:37602874C>G	ENST00000399151.3	+	14	1877	c.1792C>G	c.(1792-1794)Ccg>Gcg	p.P598A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	598					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCTCGTCACCGGAGCTCTC	0.532																																																	0													94	87	90					21																	37602874		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1792C>G	21.37:g.37602874C>G	ENSP00000382104:p.Pro598Ala		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.P598A	ENST00000399151.3	37	c.1792	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467112	0.63625	.	.	ENSG00000142197	ENST00000399151	T	0.11712	2.75	5.43	5.43	0.79202	.	0.054017	0.85682	D	0.000000	T	0.29223	0.0727	M	0.63843	1.955	0.51482	D	0.99992	D;D	0.67145	0.996;0.994	P;P	0.59643	0.861;0.729	T	0.00321	-1.1819	10	0.54805	T	0.06	.	19.589	0.95499	0.0:1.0:0.0:0.0	.	598;598	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	A	598	ENSP00000382104:P598A	ENSP00000382104:P598A	P	+	1	0	DOPEY2	36524744	1.000000	0.71417	0.087000	0.20705	0.596000	0.36781	5.586000	0.67503	2.709000	0.92574	0.491000	0.48974	CCG	DOPEY2	-	NULL		0.532	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	C	NM_005128		37602874	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.982	G	G	37602874	C	G	37602874	3	3	133	1	0	0	0	0	1	0	0	0	4718	507	18	4	1842	4	DOPEY2	21	37602874	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	1438279	37602874	10527021	57	22389										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	133	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09		22127164	29177402	58	22390										
AP1B1	162	genome.wustl.edu	37	chr22	29727818	29727818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	atcttcatgaccgagcccacCgtgctgagaggcagggagat	13	11	2	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr22:29727818C>T	ENST00000405198.1	-	17	2428	c.2397G>A	c.(2395-2397)acG>acA	p.T799T	SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.T792T|AP1B1_ENST00000357586.2_Silent_p.T799T|AP1B1_ENST00000317368.7_Silent_p.T772T|AP1B1_ENST00000415447.1_Silent_p.T792T|AP1B1_ENST00000356015.2_Silent_p.T792T|AP1B1_ENST00000432560.2_Silent_p.T792T			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	799					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGAGCCCACCGTGCTGAGAG	0.667																																																	0													70	64	66					22																	29727818		2203	4300	6503	SO:0001819	synonymous_variant	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2397G>A	22.37:g.29727818C>T			C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.T799	ENST00000405198.1	37	c.2397	CCDS13855.1	22																																																																																			AP1B1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	C	NM_001127		29727818	-1	no_errors	ENST00000357586	ensembl	human	known	70_37	silent	SNP	0.016	T	T	29727818	C	T	29727818	2	4	133	1	0	0	0	0	0	0	0	1	731	639	23	2		2	AP1B1	22	29727818	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	7600654	29727818	21576748	59	22391										
EP300	2033	genome.wustl.edu	37	chr22	41556727	41556727	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	gacccttcccagcctcaaacGtaagtaactgcattattttg	6	12	1	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr22:41556727G>A	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	2	Unknown(1)|Deletion - In frame(1)	breast(1)|pancreas(1)											99	82	88					22																	41556727		2203	4300	6503	SO:0001630	splice_region_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3671+1G>A	22.37:g.41556727G>A			B1AKC2	Splice_Site	SNP	-	e20+1	ENST00000263253.7	37	c.3671+1	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729661	0.89390	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39886673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.595000	0.87683	0.557000	0.71058	.	EP300	-	-		0.408	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429	Intron	41556727	1	no_errors	ENST00000263253	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	41556727	G	A	41556727	5	1	133	1	0	0	0	0	0	0	1	0	5160	1159	40	2	3750	2	EP300	22	41556727	Splice_Site	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	11828909	41556727	9747839	60	22392										
CELSR1	9620	genome.wustl.edu	37	chr22	46829324	46829325	+	Frame_Shift_Ins	INS	-	-	TG													0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cacctgcacagagtgccaccINSgcccgtcactcacaccactg					rs371109251|rs377640697		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chr22:46829324_46829325insTG	ENST00000262738.3	-	5	4575_4576	c.4576_4577insCA	c.(4576-4578)cggfs	p.R1526fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1526	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGTGCCACCGCCCGTCACTC	0.649																																																	0																																										SO:0001589	frameshift_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4576_4577insCA	22.37:g.46829324_46829325insTG	ENSP00000262738:p.Arg1526fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1526fs	ENST00000262738.3	37	c.4577_4576	CCDS14076.1	22																																																																																			CELSR1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.649	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	NM_014246		46829325	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	frame_shift_ins	INS	0.985:0.991	TG	TG	46829325	-	TG	46829324	7	5	133	1	0	1	1	0	0	0	0	0	3226	652	23	0	4591	0	CELSR1	22	46829324	Frame_Shift_Ins	INS	-	TCGA-FU-A3TQ-01A-11D-A22X-09	5272597	46829324	4475242	61	22393										
TBL1X	6907	genome.wustl.edu	37	chrX	9660204	9660204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ctgaatgagaatagcaacggGggctccacccagctcgtgtt	12	11	0	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:9660204G>A	ENST00000217964.7	+	9	1441	c.801G>A	c.(799-801)ggG>ggA	p.G267G	TBL1X_ENST00000380961.1_Silent_p.G216G|TBL1X_ENST00000536365.1_Silent_p.G216G|TBL1X_ENST00000407597.2_Silent_p.G267G|TBL1X_ENST00000424279.1_Silent_p.G216G	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	267					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ATAGCAACGGGGGCTCCACCC	0.498																																																	0													114	112	113					X																	9660204		2203	4300	6503	SO:0001819	synonymous_variant	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.801G>A	X.37:g.9660204G>A			A8K044|A8K4J7|Q86UY2	Silent	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G267	ENST00000217964.7	37	c.801	CCDS14133.1	X																																																																																			TBL1X	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.498	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	G	NM_005647		9660204	1	no_errors	ENST00000217964	ensembl	human	known	70_37	silent	SNP	0.879	A	A	9660204	G	A	9660204	2	1	133	1	0	0	0	0	0	0	0	1	15669	1219	43	4		4	TBL1X	23	9660204	Silent	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09		9660204	145610356	62	22394										
NR0B1	190	genome.wustl.edu	37	chrX	30326793	30326793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ccaccagggggccctcggccGctcctccggagccgcctgcg	14	20	0	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:30326793G>A	ENST00000378970.4	-	1	922	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	NR0B1_ENST00000453287.1_Missense_Mutation_p.R230W|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	230	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCCTCGGCCGCTCCTCCGGA	0.687											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6	7	6					X																	30326793		2125	4077	6202	SO:0001583	missense	190			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.688C>T	X.37:g.30326793G>A	ENSP00000368253:p.Arg230Trp	816	Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.R230W	ENST00000378970.4	37	c.688	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846494	0.32606	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98732	-5.1;-5.1	4.41	3.47	0.39725	Nuclear hormone receptor, ligand-binding (2);	0.757438	0.12180	N	0.492168	D	0.96852	0.8972	L	0.29908	0.895	0.20403	N	0.999903	D	0.65815	0.995	P	0.48227	0.571	D	0.92686	0.6162	10	0.72032	D	0.01	-12.3651	11.1017	0.48179	0.0:0.1856:0.8144:0.0	.	230	P51843	NR0B1_HUMAN	W	230	ENSP00000368253:R230W;ENSP00000396403:R230W	ENSP00000368253:R230W	R	-	1	2	NR0B1	30236714	0.041000	0.20044	0.120000	0.21714	0.080000	0.17528	2.298000	0.43602	2.177000	0.69029	0.466000	0.42574	CGG	NR0B1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.687	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	G	NM_000475		30326793	-1	no_errors	ENST00000378970	ensembl	human	known	70_37	missense	SNP	0.411	A	A	30326793	G	A	30326793	3	1	133	1	0	0	0	0	1	0	0	0	10637	1086	38	2	732	2	NR0B1	23	30326793	Missense_Mutation	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	20666589	30326793	124943767	63	22395										
CFP	5199	genome.wustl.edu	37	chrX	47486559	47486559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	cctgggcagggtggcaggccGgtgcacctccgctgctcgta	16	14	0	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:47486559G>A	ENST00000396992.3	-	5	867	c.747C>T	c.(745-747)acC>acT	p.T249T	CFP_ENST00000247153.3_Silent_p.T249T|CFP_ENST00000377005.2_Silent_p.T249T|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	249	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GTGGCAGGCCGGTGCACCTCC	0.612																																																	0													32	35	34					X																	47486559		2203	4298	6501	SO:0001819	synonymous_variant	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.747C>T	X.37:g.47486559G>A			O15134|O15135|O15136|O75826	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T249	ENST00000396992.3	37	c.747	CCDS14282.1	X																																																																																			CFP	-	pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	G	NM_002621		47486559	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	silent	SNP	0.025	A	A	47486559	G	A	47486559	2	1	133	1	0	0	0	0	0	0	0	1	3298	1103	39	2		2	CFP	23	47486559	Silent	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	17159766	47486559	107784001	64	22396										
SSX4	548313	genome.wustl.edu	37	chrX	48269517	48269517	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	tgggagggtgaccttgaaacCtagaaaggagcaaaatgttt	13	5	0	3			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:48269517C>A	ENST00000376884.2	-	4	242		c.e4-1		SSX4B_ENST00000396928.1_Splice_Site	NM_001034832.3	NP_001030004.1	O60224	SSX4_HUMAN	synovial sarcoma, X breakpoint 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			lung(1)	1						ACCTTGAAACCTAGAAAGGAG	0.512																																																	0													6	5	5					X																	48269517		1496	2620	4116	SO:0001630	splice_region_variant	548313				CCDS35241.1, CCDS43935.1	Xp11.23	2008-02-05			ENSG00000198946	ENSG00000269791			16880	protein-coding gene	gene with protein product							Standard	NM_001034832		Approved	OTTHUMT00000056510	uc004djf.2	O60224	OTTHUMG00000021497	ENST00000376884.2:c.185-1G>T	X.37:g.48269517C>A			A8MYD4|B2RPE3|Q3SYD4|Q5JQZ0|Q9UJU9	Splice_Site	SNP	-	e3-1	ENST00000376884.2	37	c.185-1	CCDS35241.1	X	.	.	.	.	.	.	.	.	.	.	c	2.612	-0.290604	0.05568	.	.	ENSG00000198946	ENST00000376884;ENST00000396928	.	.	.	1.31	1.31	0.21738	.	.	.	.	.	.	.	.	.	.	.	0.22620	N	0.99893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.678	0.17759	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSX4B	48154461	0.998000	0.40836	0.008000	0.14137	0.015000	0.08874	2.317000	0.43770	0.969000	0.38237	0.110000	0.15639	.	SSX4B	-	-		0.512	SSX4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX4B	HGNC	protein_coding	OTTHUMT00000056510.2	C		Intron	48269517	-1	no_errors	ENST00000376884	ensembl	human	known	70_37	splice_site	SNP	0.008	A	A	48269517	C	A	48269517	5	1	133	1	0	0	0	0	0	0	1	0	15236	695	24	4	1059	4	SSX4	23	48269517	Splice_Site	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	782958	48269517	107001043	65	22397										
MED12	9968	genome.wustl.edu	37	chrX	70344125	70344125	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	atacttgcactctcatctccCgaggggaccttgcctttgga	9	13	2	0			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:70344125C>T	ENST00000374080.3	+	13	1893	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	MED12_ENST00000374102.1_Nonsense_Mutation_p.R621*|MED12_ENST00000333646.6_Nonsense_Mutation_p.R621*			Q93074	MED12_HUMAN	mediator complex subunit 12	621					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCTCATCTCCCGAGGGGACCT	0.537			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													79	71	74					X																	70344125		1959	4138	6097	SO:0001587	stop_gained	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1861C>T	X.37:g.70344125C>T	ENSP00000363193:p.Arg621*		O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.R621*	ENST00000374080.3	37	c.1861	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	41	8.731290	0.98933	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7506	17.0137	0.86413	0.0:1.0:0.0:0.0	.	.	.	.	X	621;621;621;621;589	.	ENSP00000333125:R621X	R	+	1	2	MED12	70260850	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.103000	0.77014	2.194000	0.70268	0.544000	0.68410	CGA	MED12	-	pfam_Mediator_Med12_LCEWAV		0.537	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70344125	1	no_errors	ENST00000333646	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70344125	C	T	70344125	4	4	133	1	0	0	0	0	0	1	0	0	9451	644	23	2	1911	2	MED12	23	70344125	Nonsense_Mutation	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	22074608	70344125	84926435	66	22398										
FAM122C	159091	genome.wustl.edu	37	chrX	133941588	133941588	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	agacttgtccttgtgtggacGggagccggaaagccttgaga	15	8	0	2			TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:133941588G>A	ENST00000370784.4	+	0	366				FAM122C_ENST00000370785.3_5'UTR|FAM122C_ENST00000414371.2_Missense_Mutation_p.R23Q|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000475361.1_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGTGGACGGGAGCCGGAA	0.517																																																	0													78	73	75					X																	133941588		2203	4300	6503	SO:0001623	5_prime_UTR_variant	159091			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.-41G>A	X.37:g.133941588G>A			F5H036|Q8WVK9	Missense_Mutation	SNP	NULL	p.R23Q	ENST00000370784.4	37	c.68	CCDS55501.1	X	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383159	0.25031	.	.	ENSG00000156500	ENST00000414371	.	.	.	4.21	1.02	0.19986	.	.	.	.	.	T	0.09862	0.0242	N	0.03608	-0.345	0.18873	N	0.999986	B	0.28584	0.216	B	0.15870	0.014	T	0.24548	-1.0157	8	0.23891	T	0.37	.	2.3916	0.04379	0.3216:0.0:0.4432:0.2352	.	23	F5H036	.	Q	23	.	ENSP00000402477:R23Q	R	+	2	0	FAM122C	133769254	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.004000	0.13106	-0.020000	0.14032	-0.213000	0.12676	CGG	FAM122C	-	NULL		0.517	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM122C	HGNC	protein_coding		G	NM_138819		133941588	1	no_errors	ENST00000414371	ensembl	human	known	70_37	missense	SNP	0.000	A	A	133941588	G	A	133941588	1	1	133	0	1	0	0	0	0	0	0	0	5436	1116	39	2		2	FAM122C	23	133941588	5'UTR	SNP	G	TCGA-FU-A3TQ-01A-11D-A22X-09	63597463	133941588	21328972	67	22399										
LDOC1	23641	genome.wustl.edu	37	chrX	140270994	140270994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ttcacgagcatgtaagacgcCgtctgcacgataaactcggg	11	11	2	1	rs377490828		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:140270994C>T	ENST00000370526.2	-	1	316	c.213G>A	c.(211-213)acG>acA	p.T71T	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	71					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TGTAAGACGCCGTCTGCACGA	0.622																																																	0								C		0,3835		0,0,1632,571	85	71	76		213	0.7	0.1	X		76	1,6727		0,1,2427,1872	no	coding-synonymous	LDOC1	NM_012317.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		71/147	140270994	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23641			AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.213G>A	X.37:g.140270994C>T			Q6IAR6	Silent	SNP	NULL	p.T71	ENST00000370526.2	37	c.213	CCDS14672.1	X																																																																																			LDOC1	-	NULL		0.622	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDOC1	HGNC	protein_coding	OTTHUMT00000058592.1	C	NM_012317		140270994	-1	no_errors	ENST00000370526	ensembl	human	known	70_37	silent	SNP	0.077	T	T	140270994	C	T	140270994	2	4	133	1	0	0	0	0	0	0	0	1	8729	639	23	2		2	LDOC1	23	140270994	Silent	SNP	C	TCGA-FU-A3TQ-01A-11D-A22X-09	6329406	140270994	14999566	68	22400										
MAGEC3	139081	genome.wustl.edu	37	chrX	140967150	140967150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	9	0.108220483830344	1.68637048192771	5.62123493975904	0.899397590361446	1	1	0	ttccaacatggaggagaggcAcaggctacaccctttccctt	9	13	0	1	rs376372353		TCGA-FU-A3TQ-01A-11D-A22X-09	TCGA-FU-A3TQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f3d51719-25b7-4d5c-807b-89baeb60773b	3367b5e8-cebb-4e94-baae-17116774c04e	g.chrX:140967150A>G	ENST00000298296.1	+	3	448	c.448A>G	c.(448-450)Aca>Gca	p.T150A	MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	150										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGAGAGGCACAGGCTACAC	0.567																																																	0													45	38	41					X																	140967150		2202	4300	6502	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.448A>G	X.37:g.140967150A>G	ENSP00000298296:p.Thr150Ala		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T150A	ENST00000298296.1	37	c.448	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	A	0	-2.790648	0.00077	.	.	ENSG00000165509	ENST00000298296	T	0.06371	3.31	1.09	-2.18	0.07037	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	9	0.05436	T	0.98	.	0.5825	0.00714	0.4408:0.2132:0.1622:0.1838	.	150	Q8TD91	MAGC3_HUMAN	A	150	ENSP00000298296:T150A	ENSP00000298296:T150A	T	+	1	0	MAGEC3	140794816	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.464000	0.00996	-4.427000	0.00050	-2.474000	0.00201	ACA	MAGEC3	-	NULL		0.567	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	A	NM_138702		140967150	1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.000	G	G	140967150	A	G	140967150	3	3	133	1	0	0	0	0	1	0	0	0	9205	159	6	5	458	5	MAGEC3	23	140967150	Missense_Mutation	SNP	A	TCGA-FU-A3TQ-01A-11D-A22X-09	696156	140967150	14303410	69	22401										
RLF	6018	genome.wustl.edu	37	chr1	40705038	40705038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gtacccctgcatggttcaagGatgcttatctgtggtgaagt	12	8	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:40705038G>C	ENST00000372771.4	+	8	4691	c.4664G>C	c.(4663-4665)gGa>gCa	p.G1555A		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1555					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATGGTTCAAGGATGCTTATCT	0.453																																																	0													97	100	99					1																	40705038		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4664G>C	1.37:g.40705038G>C	ENSP00000361857:p.Gly1555Ala		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1555A	ENST00000372771.4	37	c.4664	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924263	0.52653	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.25912	1.77	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.147182	0.64402	D	0.000009	T	0.53932	0.1827	M	0.69823	2.125	0.50632	D	0.999883	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.955	T	0.51834	-0.8655	10	0.87932	D	0	-17.9344	20.5541	0.99286	0.0:0.0:1.0:0.0	.	1248;1555	F5H2M5;Q13129	.;RLF_HUMAN	A	1555;1248	ENSP00000361857:G1555A	ENSP00000361857:G1555A	G	+	2	0	RLF	40477625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.864000	0.98301	0.551000	0.68910	GGA	RLF	-	smart_Znf_C2H2-like		0.453	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	G	NM_012421		40705038	1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40705038	G	C	40705038	3	2	134	1	0	0	0	0	1	0	0	0	13419	1174	41	1	4694	1	RLF	1	40705038	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		40705038	208545583	1	22402										
PTGER3	5733	genome.wustl.edu	37	chr1	71512631	71512631	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ttgccccctcgcccggtgctGatgaagcaccacgtcccggg	12	17	0	2	rs544715174		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:71512631G>C	ENST00000306666.5	-	1	840	c.630C>G	c.(628-630)atC>atG	p.I210M	PTGER3_ENST00000370924.4_Missense_Mutation_p.I210M|PTGER3_ENST00000370931.3_Missense_Mutation_p.I210M|PTGER3_ENST00000354608.5_Missense_Mutation_p.I210M|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Missense_Mutation_p.I210M|PTGER3_ENST00000460330.1_Missense_Mutation_p.I210M|PTGER3_ENST00000356595.4_Missense_Mutation_p.I210M|PTGER3_ENST00000370932.2_Missense_Mutation_p.I210M|PTGER3_ENST00000351052.5_Missense_Mutation_p.I210M	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	210					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCCGGTGCTGATGAAGCACC	0.667																																																	0													57	59	58					1																	71512631		2203	4300	6503	SO:0001583	missense	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.630C>G	1.37:g.71512631G>C	ENSP00000302313:p.Ile210Met		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.I210M	ENST00000306666.5	37	c.630	CCDS657.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279431	0.59758	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.1	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.79614	2.46	0.58432	D	0.999993	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	T	0.51980	-0.8636	10	0.59425	D	0.04	-21.5734	8.5405	0.33390	0.2813:0.0:0.7187:0.0	.	210;210;210;210;210;210;210;210	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	M	210	ENSP00000359969:I210M;ENSP00000359970:I210M;ENSP00000280208:I210M;ENSP00000418073:I210M;ENSP00000346624:I210M;ENSP00000349003:I210M;ENSP00000401423:I210M;ENSP00000302313:I210M;ENSP00000359962:I210M	ENSP00000302313:I210M	I	-	3	3	PTGER3	71285219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.153000	0.31676	0.216000	0.20781	0.462000	0.41574	ATC	PTGER3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt		0.667	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	G	NM_000957		71512631	-1	no_errors	ENST00000354608	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71512631	G	C	71512631	3	2	134	1	0	0	0	0	1	0	0	0	12772	1280	45	1	861	1	PTGER3	1	71512631	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	30807593	71512631	177737990	2	22403										
WDR47	22911	genome.wustl.edu	37	chr1	109514103	109514103	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ctatctgcagaggatgacagGaaggaaagatcctgggtgtg	15	6	1	3			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:109514103G>A	ENST00000369962.3	-	15	2931	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	WDR47_ENST00000369965.4_Silent_p.F904F|WDR47_ENST00000357672.3_Silent_p.F875F|WDR47_ENST00000361054.3_Silent_p.F875F|WDR47_ENST00000400794.3_Silent_p.F911F			O94967	WDR47_HUMAN	WD repeat domain 47	903					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGGATGACAGGAAGGAAAGAT	0.498																																																	0													199	182	188					1																	109514103		2203	4300	6503	SO:0001819	synonymous_variant	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2709C>T	1.37:g.109514103G>A			A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F911	ENST00000369962.3	37	c.2733	CCDS44187.1	1																																																																																			WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.498	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	G	NM_014969		109514103	-1	no_errors	ENST00000400794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109514103	G	A	109514103	2	1	134	1	0	0	0	0	0	0	0	1	17331	1165	41	1		1	WDR47	1	109514103	Silent	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	38001472	109514103	139736518	3	22404										
WARS2	10352	genome.wustl.edu	37	chr1	119683254	119683254	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gctcacgcgctttccgcattGagtgcagcgccatcttgaga	11	13	2	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:119683254G>A	ENST00000235521.4	-	1	40	c.14C>T	c.(13-15)tCa>tTa	p.S5L	RP11-418J17.1_ENST00000418015.1_RNA|RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000369426.5_Missense_Mutation_p.S5L|RP11-418J17.1_ENST00000413531.1_RNA|RP11-418J17.1_ENST00000457043.1_RNA|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000537870.1_5'Flank	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	5					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTTCCGCATTGAGTGCAGCGC	0.607																																																	0													36	37	37					1																	119683254		2203	4300	6503	SO:0001583	missense	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.14C>T	1.37:g.119683254G>A	ENSP00000235521:p.Ser5Leu		B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.S5L	ENST00000235521.4	37	c.14	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913369	0.52439	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.43294	0.95;1.96	6.04	5.06	0.68205	.	0.693199	0.13591	N	0.376626	T	0.15305	0.0369	L	0.34521	1.04	0.43988	D	0.996684	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.17107	-1.0380	10	0.87932	D	0	-4.2569	3.9842	0.09507	0.2805:0.0:0.7195:0.0	.	5;5;5;5	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	L	5	ENSP00000358434:S5L;ENSP00000235521:S5L	ENSP00000235521:S5L	S	-	2	0	WARS2	119484777	1.000000	0.71417	0.233000	0.24025	0.924000	0.55760	2.886000	0.48578	1.470000	0.48102	0.561000	0.74099	TCA	WARS2	-	NULL		0.607	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	HGNC	protein_coding	OTTHUMT00000034362.1	G	NM_015836		119683254	-1	no_errors	ENST00000235521	ensembl	human	known	70_37	missense	SNP	0.335	A	A	119683254	G	A	119683254	3	1	134	1	0	0	0	0	1	0	0	0	17281	1294	45	1	1121	1	WARS2	1	119683254	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	10169151	119683254	129567367	4	22405										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144879121	144879121	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gcctccagctgggatactctCtggatgagactctccaggtc	11	13	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:144879121C>T	ENST00000369354.3	-	27	4518	c.4329G>A	c.(4327-4329)caG>caA	p.Q1443Q	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.Q1579Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.Q1443Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1399Q|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369359.4_Silent_p.Q1579Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1443					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGATACTCTCTGGATGAGAC	0.557			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													102	111	108					1																	144879121		2203	4299	6502	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4329G>A	1.37:g.144879121C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q1443	ENST00000369354.3	37	c.4329	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.557	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144879121	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.996	T	T	144879121	C	T	144879121	2	4	134	1	0	0	0	0	0	0	0	1	11667	912	32	1		1	PDE4DIP	1	144879121	Silent	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	25195867	144879121	104371500	5	22406										
SPTA1	6708	genome.wustl.edu	37	chr1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ggcttcaagatcattttgtcGcctagcagctcgagcacgga	11	11	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																																	1	Substitution - Nonsense(1)	endometrium(1)											175	172	173					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R891*	ENST00000368147.4	37	c.2671	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158627401	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	158627401	G	A	158627401	4	1	134	1	0	0	0	0	0	1	0	0	15146	1095	38	2	4724	2	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	13748280	158627401	90623220	6	22407										
PXDN	7837	genome.wustl.edu	37	chr2	1667376	1667376	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ccacaacctcctggcacctaCctctgggctgcacagtcagg	9	17	2	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:1667376C>T	ENST00000252804.4	-	12	1618		c.e12+1		PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGCACCTACCTCTGGGCTG	0.522																																																	0													86	91	89					2																	1667376		2004	4155	6159	SO:0001630	splice_region_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1567+1G>A	2.37:g.1667376C>T			A8QM65|D6W4Y0|Q4KMG2	Splice_Site	SNP	-	e12+1	ENST00000252804.4	37	c.1567+1	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254417	0.80135	.	.	ENSG00000130508	ENST00000252804;ENST00000433670	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PXDN	1646383	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	5.611000	0.67674	2.735000	0.93741	0.655000	0.94253	.	PXDN	-	-		0.522	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455	Intron	1667376	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	1667376	C	T	1667376	5	4	134	1	0	0	0	0	0	0	1	0	12877	521	18	4	2919	4	PXDN	2	1667376	Splice_Site	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		1667376	241531997	7	22408										
DHX57	90957	genome.wustl.edu	37	chr2	39075446	39075446	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cggggcaggaattaaaatagTctgaaaaaagctcagcgttt	11	6	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:39075446T>A	ENST00000295373.6	-	10	2255	c.2129A>T	c.(2128-2130)gAc>gTc	p.D710V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	710	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATTAAAATAGTCTGAAAAAAG	0.328																																					Melanoma(191;1090 2095 4375 23729 47341)												0													65	71	69					2																	39075446		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2129A>T	2.37:g.39075446T>A	ENSP00000295373:p.Asp710Val		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D710V	ENST00000295373.6	37	c.2129	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.73|15.73	2.920446|2.920446	0.52653|0.52653	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.26810|.	1.71|.	5.6|5.6	5.6|5.6	0.85130|0.85130	DEAD-like helicase (2);|.	0.380779|.	0.22169|.	N|.	0.063665|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.87827|0.87827	2.91|2.91	0.49213|0.49213	D|D	0.999765|0.999765	B;B;B|.	0.23591|.	0.02;0.088;0.084|.	B;B;B|.	0.22880|.	0.039;0.039;0.042|.	T|T	0.80004|0.80004	-0.1564|-0.1564	10|5	0.49607|.	T|.	0.09|.	.|.	9.9204|9.9204	0.41462|0.41462	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	710;710;102|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	V|S	710|33	ENSP00000295373:D710V|.	ENSP00000295373:D710V|.	D|R	-|-	2|3	0|2	DHX57|DHX57	38928950|38928950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.915000|5.915000	0.69973|0.69973	2.123000|2.123000	0.65237|0.65237	0.477000|0.477000	0.44152|0.44152	GAC|AGA	DHX57	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.328	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	T	NM_145646		39075446	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39075446	T	A	39075446	3	1	134	1	0	0	0	0	1	0	0	0	4523	1667	58	5	2091	5	DHX57	2	39075446	Missense_Mutation	SNP	T	TCGA-FU-A3TX-01A-11D-A22X-09	37408070	39075446	204123927	8	22409										
EXOC6B	23233	genome.wustl.edu	37	chr2	72786617	72786617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	atgtagacatcgataaactgGagagaaatccaccaaatctt	7	8	1	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:72786617G>A	ENST00000272427.6	-	8	1010	c.880C>T	c.(880-882)Cca>Tca	p.P294S	EXOC6B_ENST00000410104.1_Missense_Mutation_p.P294S	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	294					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CGATAAACTGGAGAGAAATCC	0.358																																																	0													73	68	70					2																	72786617		1808	4081	5889	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.880C>T	2.37:g.72786617G>A	ENSP00000272427:p.Pro294Ser		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.P294S	ENST00000272427.6	37	c.880	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392761	0.83011	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.33216	1.42;1.42	5.19	5.19	0.71726	.	0.529823	0.20785	N	0.085733	T	0.62551	0.2437	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.954	T	0.68515	-0.5388	10	0.56958	D	0.05	.	14.0889	0.64977	0.0:0.0:1.0:0.0	.	294;294	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	S	294	ENSP00000272427:P294S;ENSP00000386698:P294S	ENSP00000272427:P294S	P	-	1	0	EXOC6B	72640125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.713000	0.74686	2.711000	0.92665	0.655000	0.94253	CCA	EXOC6B	-	pirsf_Sec15		0.358	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	G	XM_039570		72786617	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72786617	G	A	72786617	3	1	134	1	0	0	0	0	1	0	0	0	5321	1174	41	1	1615	1	EXOC6B	2	72786617	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	33711171	72786617	170412756	9	22410										
RGPD4	285190	genome.wustl.edu	37	chr2	108487458	108487458	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tcaagggattttcaggtgctGgagaaaaattattctcatca	9	6	4	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:108487458G>T	ENST00000408999.3	+	20	3075	c.2998G>T	c.(2998-3000)Gga>Tga	p.G1000*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1000*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1000					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTCAGGTGCTGGAGAAAAATT	0.388																																																	0													1	1	1					2																	108487458		33	219	252	SO:0001587	stop_gained	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2998G>T	2.37:g.108487458G>T	ENSP00000386810:p.Gly1000*		B9A029	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G1000*	ENST00000408999.3	37	c.2998	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	37	6.534962	0.97646	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.258	11.5771	0.50869	0.0:0.0:1.0:0.0	.	.	.	.	X	1000;1000;758	.	ENSP00000347081:G1000X	G	+	1	0	RGPD4	107853890	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	GGA	RGPD4	-	NULL		0.388	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108487458	1	no_errors	ENST00000354986	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	108487458	G	T	108487458	4	4	134	1	0	0	0	0	0	1	0	0	13318	1349	47	4	3076	4	RGPD4	2	108487458	Nonsense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	35700841	108487458	134711915	10	22411										
TRIM71	131405	genome.wustl.edu	37	chr3	32915396	32915396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gggggccacagcttcatctaCctccaggaggcactgcagga	13	13	2	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:32915396C>T	ENST00000383763.5	+	2	1002	c.939C>T	c.(937-939)taC>taT	p.Y313Y		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	313					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTCATCTACCTCCAGGAGG	0.607																																																	0													150	160	157					3																	32915396		2118	4229	6347	SO:0001819	synonymous_variant	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.939C>T	3.37:g.32915396C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y313	ENST00000383763.5	37	c.939	CCDS43060.1	3																																																																																			TRIM71	-	smart_Znf_B-box,pfscan_Znf_B-box		0.607	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	C	NM_001039111		32915396	1	no_errors	ENST00000383763	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32915396	C	T	32915396	2	4	134	1	0	0	0	0	0	0	0	1	16575	518	18	4		4	TRIM71	3	32915396	Silent	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		32915396	165107034	11	22412										
MST1R	4486	genome.wustl.edu	37	chr3	49928930	49928930	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tggcaacatgataccaatgaGagccagcacattcgggtggt	12	9	0	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:49928930G>C	ENST00000296474.3	-	16	3463	c.3436C>G	c.(3436-3438)Ctc>Gtc	p.L1146V	MST1R_ENST00000344206.4_Missense_Mutation_p.L1097V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATACCAATGAGAGCCAGCACA	0.612																																																	0													106	97	100					3																	49928930		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3436C>G	3.37:g.49928930G>C	ENSP00000296474:p.Leu1146Val		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1146V	ENST00000296474.3	37	c.3436	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	.	20.4	3.977192	0.74360	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.42900	0.96;0.96	5.08	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.173382	0.51477	D	0.000090	T	0.62502	0.2433	M	0.81341	2.54	0.58432	D	0.999993	P	0.44877	0.845	P	0.53185	0.72	T	0.67542	-0.5644	10	0.87932	D	0	-22.2205	18.8476	0.92213	0.0:0.0:1.0:0.0	.	1146	Q04912	RON_HUMAN	V	1146;1097	ENSP00000296474:L1146V;ENSP00000341325:L1097V	ENSP00000296474:L1146V	L	-	1	0	MST1R	49903934	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	4.254000	0.58798	2.693000	0.91896	0.632000	0.83419	CTC	MST1R	-	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,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	G			49928930	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49928930	G	C	49928930	3	2	134	1	0	0	0	0	1	0	0	0	9914	942	33	1	786	1	MST1R	3	49928930	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	17013534	49928930	148093500	12	22413										
SFMBT1	51460	genome.wustl.edu	37	chr3	52962220	52962220	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tgtgcacctggaggggggctGatgtgtaggccattcttcag	16	8	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:52962220G>A	ENST00000394752.3	-	9	1417	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SFMBT1_ENST00000358080.2_Silent_p.I345I|SFMBT1_ENST00000394750.1_Silent_p.I345I|SFMBT1_ENST00000296295.6_Silent_p.I345I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	345					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAGGGGGGCTGATGTGTAGGC	0.522																																																	0													133	127	129					3																	52962220		2203	4300	6503	SO:0001819	synonymous_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1035C>T	3.37:g.52962220G>A			Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.I345	ENST00000394752.3	37	c.1035	CCDS2867.1	3																																																																																			SFMBT1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.522	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52962220	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52962220	G	A	52962220	2	1	134	1	0	0	0	0	0	0	0	1	14187	1280	45	1		1	SFMBT1	3	52962220	Silent	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	3033290	52962220	145060210	13	22414										
FAM55C	91775	genome.wustl.edu	37	chr3	101525937	101525937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cagtcaactccagtggacctGattgggtaactgtgattccc	10	11	1	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:101525937G>C	ENST00000491511.2	+	6	1845	c.889G>C	c.(889-891)Gat>Cat	p.D297H	NXPE3_ENST00000273347.5_Missense_Mutation_p.D297H|NXPE3_ENST00000422132.1_Missense_Mutation_p.D297H|NXPE3_ENST00000477909.1_Missense_Mutation_p.D297H	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	297						extracellular region (GO:0005576)											CAGTGGACCTGATTGGGTAAC	0.363																																																	0													127	134	132					3																	101525937		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.889G>C	3.37:g.101525937G>C	ENSP00000417485:p.Asp297His		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.D297H	ENST00000491511.2	37	c.889	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225231	0.79576	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.58	5.58	0.84498	.	0.338611	0.35320	N	0.003287	T	0.25306	0.0615	L	0.48642	1.525	0.58432	D	0.999997	D	0.63880	0.993	P	0.52856	0.711	T	0.00146	-1.1992	10	0.44086	T	0.13	-9.968	19.5923	0.95520	0.0:0.0:1.0:0.0	.	297	Q969Y0	FA55C_HUMAN	H	297	ENSP00000273347:D297H;ENSP00000417485:D297H;ENSP00000418369:D297H;ENSP00000396421:D297H	ENSP00000273347:D297H	D	+	1	0	FAM55C	103008627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.931000	0.70113	2.644000	0.89710	0.557000	0.71058	GAT	NXPE3	-	NULL		0.363	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	G	NM_145037		101525937	1	no_errors	ENST00000273347	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101525937	G	C	101525937	3	2	134	1	0	0	0	0	1	0	0	0	5604	1290	45	1	899	1	FAM55C	3	101525937	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	48563717	101525937	96496493	14	22415										
IGSF10	285313	genome.wustl.edu	37	chr3	151166190	151166190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	acttttgtctattaggatccGtccatcctcactgacataag	6	11	2	1	rs372867906		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:151166190G>A	ENST00000282466.3	-	4	1578	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	527	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R527W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTAGGATCCGTCCATCCTCA	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	154	154	154		1579	1.4	0.6	3		154	0,8600		0,0,4300	no	missense	IGSF10	NM_178822.4	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	527/2624	151166190	2,13004	2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1579C>T	3.37:g.151166190G>A	ENSP00000282466:p.Arg527Trp		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R527W	ENST00000282466.3	37	c.1579	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777328	0.49786	4.54E-4	0.0	ENSG00000152580	ENST00000282466	T	0.40756	1.02	4.76	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000689	T	0.70448	0.3225	M	0.94101	3.495	0.43678	D	0.996119	D	0.89917	1.0	D	0.97110	1.0	T	0.77770	-0.2463	10	0.59425	D	0.04	.	13.7934	0.63155	0.0:0.0:0.3846:0.6154	.	527	Q6WRI0	IGS10_HUMAN	W	527	ENSP00000282466:R527W	ENSP00000282466:R527W	R	-	1	2	IGSF10	152648880	0.999000	0.42202	0.557000	0.28306	0.715000	0.41141	3.083000	0.50136	0.379000	0.24794	-0.410000	0.06199	CGG	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	G	NM_178822		151166190	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.985	A	A	151166190	G	A	151166190	3	1	134	1	0	0	0	0	1	0	0	0	7617	1144	40	2	6352	2	IGSF10	3	151166190	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	49640253	151166190	46856240	15	22416										
NAA11	84779	genome.wustl.edu	37	chr4	80247017	80247017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	atcaggtcgtctggctgagcGttgcggatgttcataatggc	14	8	3	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr4:80247017G>A	ENST00000286794.4	-	1	187	c.15C>T	c.(13-15)aaC>aaT	p.N5N	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	5	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTGGCTGAGCGTTGCGGATGT	0.512																																																	0													67	64	65					4																	80247017		2193	4299	6492	SO:0001819	synonymous_variant	84779				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.15C>T	4.37:g.80247017G>A			Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.N5	ENST00000286794.4	37	c.15	CCDS47084.1	4																																																																																			NAA11	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.512	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	G			80247017	-1	no_errors	ENST00000286794	ensembl	human	known	70_37	silent	SNP	0.917	A	A	80247017	G	A	80247017	2	1	134	1	0	0	0	0	0	0	0	1	10140	1136	40	2		2	NAA11	4	80247017	Silent	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		80247017	110907259	16	22417										
NR3C2	4306	genome.wustl.edu	37	chr4	149035255	149035255	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	caaggaggggctctactcacGtcatgcatggagtccagcag	13	11	3	0	rs371422334		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr4:149035255G>A	ENST00000358102.3	-	8	3161	c.2799C>T	c.(2797-2799)gaC>gaT	p.D933D	NR3C2_ENST00000512865.1_Splice_Site_p.D816D|NR3C2_ENST00000344721.4_Splice_Site_p.D933D|NR3C2_ENST00000511528.1_Splice_Site_p.D937D|NR3C2_ENST00000355292.3_Splice_Site_p.D937D	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	933	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCTACTCACGTCATGCATGG	0.493																																					Melanoma(27;428 957 40335 51025 51111)												0								G	,	0,4406		0,0,2203	123	104	110		2799,2448	-6.3	0.8	4		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	NR3C2	NM_000901.4,NM_001166104.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	933/985,816/868	149035255	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2799+1C>T	4.37:g.149035255G>A			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D937	ENST00000358102.3	37	c.2811	CCDS3772.1	4																																																																																			NR3C2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	G		Silent	149035255	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	silent	SNP	0.965	A	A	149035255	G	A	149035255	5	1	134	1	0	0	0	0	0	0	1	0	10655	1159	40	2	163	2	NR3C2	4	149035255	Splice_Site	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	68788238	149035255	42119021	17	22418										
NR3C2	4306	genome.wustl.edu	37	chr4	149357186	149357186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	attttacactgcagtgacttGgagggctggaaattgaggat	13	5	0	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr4:149357186G>A	ENST00000358102.3	-	2	1189	c.827C>T	c.(826-828)cCa>cTa	p.P276L	NR3C2_ENST00000512865.1_Missense_Mutation_p.P276L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P276L|NR3C2_ENST00000511528.1_Missense_Mutation_p.P276L|NR3C2_ENST00000355292.3_Missense_Mutation_p.P276L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	276	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCAGTGACTTGGAGGGCTGGA	0.488																																					Melanoma(27;428 957 40335 51025 51111)												0													69	69	69					4																	149357186		2203	4300	6503	SO:0001583	missense	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.827C>T	4.37:g.149357186G>A	ENSP00000350815:p.Pro276Leu		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P276L	ENST00000358102.3	37	c.827	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625976	0.28889	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.2;-2.2;-2.61	4.86	4.86	0.63082	.	0.220122	0.45126	D	0.000381	D	0.86598	0.5971	L	0.27053	0.805	0.58432	D	0.999995	P;P	0.50943	0.895;0.94	B;P	0.49140	0.281;0.601	D	0.85703	0.1314	9	.	.	.	.	18.3401	0.90302	0.0:0.0:1.0:0.0	.	276;276	B0ZBF5;B0ZBF6	.;.	L	276	ENSP00000341390:P276L;ENSP00000347441:P276L;ENSP00000350815:P276L;ENSP00000423510:P276L;ENSP00000343907:P276L;ENSP00000421481:P276L	.	P	-	2	0	NR3C2	149576636	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	5.770000	0.68873	2.392000	0.81423	0.591000	0.81541	CCA	NR3C2	-	NULL		0.488	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	G			149357186	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	missense	SNP	0.984	A	A	149357186	G	A	149357186	3	1	134	1	0	0	0	0	1	0	0	0	10655	1348	47	4	2159	4	NR3C2	4	149357186	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	321931	149357186	41797090	18	22419										
CSF2	1437	genome.wustl.edu	37	chr5	131409528	131409528	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ctctggaggatgtggctgcaGagcctgctgctcttgggcac	15	11	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr5:131409528G>A	ENST00000296871.2	+	1	46	c.12G>A	c.(10-12)caG>caA	p.Q4Q		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	4					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGCTGCAGAGCCTGCTGC	0.567																																																	0													29	35	33					5																	131409528		2199	4294	6493	SO:0001819	synonymous_variant	1437			M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"sargramostim", "molgramostin", "granulocyte-macrophage colony stimulating factor"	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.12G>A	5.37:g.131409528G>A			Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	pfam_GM_colony-stim-fac,superfamily_4_helix_cytokine-like_core,smart_GM_colony-stim-fac,prints_GM_colony-stim-fac	p.Q4	ENST00000296871.2	37	c.12	CCDS4150.1	5																																																																																			CSF2	-	NULL		0.567	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2	HGNC	protein_coding	OTTHUMT00000132636.2	G	NM_000758		131409528	1	no_errors	ENST00000296871	ensembl	human	known	70_37	silent	SNP	0.997	A	A	131409528	G	A	131409528	2	1	134	1	0	0	0	0	0	0	0	1	3938	933	33	1		1	CSF2	5	131409528	Silent	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		131409528	49505732	19	22420										
PCDHA6	56142	genome.wustl.edu	37	chr5	140209601	140209601	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tgtcctggacgaagcggactCtccgcgccaccggctgctgg	14	15	1	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr5:140209601C>G	ENST00000529310.1	+	1	2039	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.672																																																	0													53	61	58					5																	140209601		2203	4299	6502	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1925C>G	5.37:g.140209601C>G	ENSP00000433378:p.Ser642Cys		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S642C	ENST00000529310.1	37	c.1925	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	2.418	-0.333680	0.05278	.	.	ENSG00000081842	ENST00000529310	T	0.53206	0.63	3.98	0.94	0.19513	Cadherin (4);Cadherin-like (1);	0.496290	0.14270	U	0.330185	T	0.36276	0.0961	L	0.43598	1.365	0.09310	N	0.999999	B;B	0.23650	0.02;0.089	B;B	0.24974	0.012;0.057	T	0.35968	-0.9767	10	0.87932	D	0	.	5.6528	0.17627	0.0:0.4239:0.3581:0.218	.	642;642	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	C	642	ENSP00000433378:S642C	ENSP00000433378:S642C	S	+	2	0	PCDHA6	140189785	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-1.722000	0.01868	0.459000	0.27016	0.306000	0.20318	TCT	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140209601	1	no_errors	ENST00000529310	ensembl	human	known	70_37	missense	SNP	0.043	G	G	140209601	C	G	140209601	3	3	134	1	0	0	0	0	1	0	0	0	11552	913	32	1	1927	1	PCDHA6	5	140209601	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	8800073	140209601	40705659	20	22421										
TAF8	129685	genome.wustl.edu	37	chr6	42036293	42036293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	aatggaagagacagattcctCggagcaggatgaacagacag	13	7	0	4			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr6:42036293C>T	ENST00000372977.3	+	7	746	c.728C>T	c.(727-729)tCg>tTg	p.S243L	TAF8_ENST00000494547.1_Missense_Mutation_p.S243L|TAF8_ENST00000372982.4_Missense_Mutation_p.S243L|TAF8_ENST00000465926.1_Missense_Mutation_p.S167L|TAF8_ENST00000456846.2_Missense_Mutation_p.S243L	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	243					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACAGATTCCTCGGAGCAGGAT	0.507																																																	0													196	202	200					6																	42036293		2050	4201	6251	SO:0001583	missense	129685			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.728C>T	6.37:g.42036293C>T	ENSP00000362068:p.Ser243Leu		Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP	p.S243L	ENST00000372977.3	37	c.728	CCDS43462.1	6	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919094	0.73098	.	.	ENSG00000137413	ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.22983	0.004;0.023;0.078;0.014	B;B;B;B	0.12156	0.001;0.007;0.007;0.003	T	0.20773	-1.0265	9	0.23891	T	0.37	-15.6765	20.1963	0.98243	0.0:1.0:0.0:0.0	.	167;243;243;243	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	L	243;243;243;243;167	.	ENSP00000362068:S243L	S	+	2	0	TAF8	42144271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	2.878000	0.98634	0.650000	0.86243	TCG	TAF8	-	NULL		0.507	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF8	HGNC	protein_coding	OTTHUMT00000357901.1	C	NM_138572		42036293	1	no_errors	ENST00000372982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42036293	C	T	42036293	3	4	134	1	0	0	0	0	1	0	0	0	15564	893	31	1	754	1	TAF8	6	42036293	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		42036293	129078774	21	22422										
COL19A1	1310	genome.wustl.edu	37	chr6	70854859	70854859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cgggcttccaggtccaaaagGtgaggctggtcctccaggga	15	11	0	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr6:70854859G>T	ENST00000322773.4	+	25	1832	c.1730G>T	c.(1729-1731)gGt>gTt	p.G577V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G199V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	577	Collagen-like 5.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G577D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTCCAAAAGGTGAGGCTGGT	0.478																																																	1	Substitution - Missense(1)	skin(1)											25	27	26					6																	70854859		2202	4297	6499	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1730G>T	6.37:g.70854859G>T	ENSP00000316030:p.Gly577Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G577V	ENST00000322773.4	37	c.1730	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859708	0.51376	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.99638	0.9867	H	0.97440	4.005	0.80722	D	1	D	0.61080	0.989	D	0.64321	0.924	D	0.97818	1.0255	10	0.62326	D	0.03	.	17.037	0.86479	0.0:0.0:1.0:0.0	.	577	Q14993	COJA1_HUMAN	V	577;199	ENSP00000316030:G577V;ENSP00000377013:G199V	ENSP00000316030:G577V	G	+	2	0	COL19A1	70911580	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.388000	0.79795	2.525000	0.85131	0.585000	0.79938	GGT	COL19A1	-	pfam_Collagen		0.478	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70854859	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70854859	G	T	70854859	3	4	134	1	0	0	0	0	1	0	0	0	3681	1261	44	4	1824	4	COL19A1	6	70854859	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	28818566	70854859	100260208	22	22423										
HECW1	23072	genome.wustl.edu	37	chr7	43351605	43351605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gcagctcctactattccatcGggcactctcaggacctggtc	9	15	1	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr7:43351605G>A	ENST00000395891.2	+	4	876	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	HECW1_ENST00000453890.1_Missense_Mutation_p.G91R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTATTCCATCGGGCACTCTCA	0.582																																																	0													76	82	80					7																	43351605		2112	4235	6347	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.271G>A	7.37:g.43351605G>A	ENSP00000379228:p.Gly91Arg		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G91R	ENST00000395891.2	37	c.271	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	35	5.590149	0.96590	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.37752	1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65084	-0.6254	10	0.87932	D	0	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	91;123;91	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	R	91;91;90	ENSP00000379228:G91R;ENSP00000407774:G91R	ENSP00000265522:G90R	G	+	1	0	HECW1	43318130	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.760000	0.98935	2.779000	0.95612	0.655000	0.94253	GGG	HECW1	-	NULL		0.582	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43351605	1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43351605	G	A	43351605	3	1	134	1	0	0	0	0	1	0	0	0	7062	1116	39	2	277	2	HECW1	7	43351605	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		43351605	115787058	23	22424										
ZCWPW1	55063	genome.wustl.edu	37	chr7	100004362	100004362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tcctggaagttctttagcatGttgactgggatccatgcacg	11	9	1	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr7:100004362G>T	ENST00000398027.2	-	12	1372	c.1125C>A	c.(1123-1125)aaC>aaA	p.N375K	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.N376K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.N255K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.N255K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	375	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTTAGCATGTTGACTGGGA	0.438																																																	0													124	128	127					7																	100004362		1902	4131	6033	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1125C>A	7.37:g.100004362G>T	ENSP00000381109:p.Asn375Lys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.N375K	ENST00000398027.2	37	c.1125	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088227	0.36855	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.44	2.64	0.31445	PWWP (2);	0.549902	0.16709	N	0.202757	T	0.51381	0.1671	N	0.10782	0.045	0.27441	N	0.95373	P;P;P;P;P	0.49559	0.925;0.88;0.925;0.88;0.908	P;B;P;B;P	0.49922	0.468;0.366;0.626;0.366;0.492	T	0.42103	-0.9471	9	.	.	.	-6.1055	8.0299	0.30459	0.2516:0.0:0.7484:0.0	.	376;336;378;375;255	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	K	375;255;376;255;125;378	ENSP00000381109:N375K;ENSP00000419187:N255K;ENSP00000354210:N376K;ENSP00000314880:N255K;ENSP00000418351:N125K	.	N	-	3	2	ZCWPW1	99842298	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.602000	0.36783	0.257000	0.21650	-0.136000	0.14681	AAC	ZCWPW1	-	pfam_PWWP,smart_PWWP,pfscan_PWWP		0.438	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	G	NM_017984		100004362	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100004362	G	T	100004362	3	4	134	1	0	0	0	0	1	0	0	0	17627	1368	48	4	849	4	ZCWPW1	7	100004362	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	56652757	100004362	59134301	24	22425										
PTK2B	2185	genome.wustl.edu	37	chr8	27296867	27296868	+	Frame_Shift_Ins	INS	-	-	C													0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	caaatggatgtccccagagtINSccattaacttccgacgcttc							TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr8:27296867_27296868insC	ENST00000397501.1	+	25	2594_2595	c.1786_1787insC	c.(1786-1788)tccfs	p.S596fs	PTK2B_ENST00000420218.2_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000544172.1_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000517339.1_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000346049.5_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000397497.4_Frame_Shift_Ins_p.S342fs|PTK2B_ENST00000338238.4_Frame_Shift_Ins_p.S596fs	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GTCCCCAGAGTCCATTAACTTC	0.47																																																	0																																										SO:0001589	frameshift_variant	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1788dupC	8.37:g.27296869_27296869dupC	ENSP00000380638:p.Ser596fs		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I597fs	ENST00000397501.1	37	c.1786_1787	CCDS6057.1	8																																																																																			PTK2B	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.47	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	NM_004103		27296868	1	no_errors	ENST00000346049	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	27296868	-	C	27296867	7	5	134	1	0	1	1	0	0	0	0	0	12791	1667	58	0	1860	0	PTK2B	8	27296867	Frame_Shift_Ins	INS	-	TCGA-FU-A3TX-01A-11D-A22X-09		27296867	119067155	25	22426										
ODF1	4956	genome.wustl.edu	37	chr8	103572954	103572954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tcggcagctgtgtcaagatcGagtctccttgctacccttgc	10	13	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr8:103572954G>A	ENST00000285402.3	+	2	751	c.595G>A	c.(595-597)Gag>Aag	p.E199K	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCAAGATCGAGTCTCCTTG	0.572																																																	0													109	79	89					8																	103572954		2203	4300	6503	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.595G>A	8.37:g.103572954G>A	ENSP00000285402:p.Glu199Lys		Q3SX72	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.E199K	ENST00000285402.3	37	c.595	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369481	0.82463	.	.	ENSG00000155087	ENST00000285402	D	0.85484	-1.99	5.06	5.06	0.68205	Heat shock protein Hsp20 (1);	0.000000	0.56097	D	0.000034	D	0.88097	0.6345	L	0.38175	1.15	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	D	0.89225	0.3573	10	0.87932	D	0	-28.5667	13.9183	0.63914	0.0:0.0:1.0:0.0	.	199	Q14990	ODFP1_HUMAN	K	199	ENSP00000285402:E199K	ENSP00000285402:E199K	E	+	1	0	ODF1	103642130	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.746000	0.62133	2.367000	0.80283	0.555000	0.69702	GAG	ODF1	-	pfscan_a-crystallin/Hsp20_dom		0.572	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	G			103572954	1	no_errors	ENST00000285402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103572954	G	A	103572954	3	1	134	1	0	0	0	0	1	0	0	0	10850	1059	37	1	601	1	ODF1	8	103572954	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	76276087	103572954	42791068	26	22427										
UNC13B	10497	genome.wustl.edu	37	chr9	35313966	35313966	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ggatccgagcagttaccaagGttcgactccagctgcaggag	13	11	0	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr9:35313966G>C	ENST00000378495.3	+	10	1369	c.1147G>C	c.(1147-1149)Gtt>Ctt	p.V383L	UNC13B_ENST00000378496.4_Missense_Mutation_p.V383L|UNC13B_ENST00000396787.1_Missense_Mutation_p.V395L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	383					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGTTACCAAGGTTCGACTCCA	0.433																																																	0													154	141	146					9																	35313966		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1147G>C	9.37:g.35313966G>C	ENSP00000367756:p.Val383Leu		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V395L	ENST00000378495.3	37	c.1183	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.147790	0.94603	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.87029	-2.08;-2.01;-2.2	5.74	5.74	0.90152	.	0.138983	0.47852	D	0.000210	D	0.92260	0.7545	L	0.54323	1.7	0.58432	D	0.999998	P;D;D	0.67145	0.952;0.996;0.984	P;D;D	0.77557	0.78;0.99;0.956	D	0.91507	0.5224	10	0.49607	T	0.09	-8.6315	19.9326	0.97124	0.0:0.0:1.0:0.0	.	383;383;383	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	L	395;383;383	ENSP00000380006:V395L;ENSP00000367756:V383L;ENSP00000367757:V383L	ENSP00000367756:V383L	V	+	1	0	UNC13B	35303966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.042000	0.76565	2.720000	0.93068	0.650000	0.86243	GTT	UNC13B	-	NULL		0.433	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	G	NM_006377		35313966	1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35313966	G	C	35313966	3	2	134	1	0	0	0	0	1	0	0	0	17016	1261	44	4	1185	4	UNC13B	9	35313966	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		35313966	105899465	27	22428										
SEC16A	9919	genome.wustl.edu	37	chr9	139348716	139348716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ccaggggccccgggggcagtGgcactgggaacatcggcact	17	13	0	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr9:139348716G>A	ENST00000371706.3	-	19	5420	c.5387C>T	c.(5386-5388)cCa>cTa	p.P1796L	SEC16A_ENST00000290037.6_Missense_Mutation_p.P1796L|SEC16A_ENST00000313050.7_Missense_Mutation_p.P1974L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1796L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1796	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGGGGGCAGTGGCACTGGGAA	0.687																																																	0													7	10	9					9																	139348716		1917	4105	6022	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5387C>T	9.37:g.139348716G>A	ENSP00000360771:p.Pro1796Leu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P1974L	ENST00000371706.3	37	c.5921		9	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843163	0.51057	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.53423	1.62;0.62;1.18;1.62;1.6;1.6	4.61	0.552	0.17230	.	0.509670	0.22811	N	0.055342	T	0.32010	0.0815	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.16541	-1.0399	10	0.46703	T	0.11	-1.6299	4.5901	0.12302	0.2593:0.0:0.5883:0.1525	.	1974;1796;1796;1364;1796	F1T0I1;O15027-5;O15027-4;A4QN19;O15027	.;.;.;.;SC16A_HUMAN	L	1974;368;696;1796;1796;1796;1364	ENSP00000325827:P1974L;ENSP00000277537:P368L;ENSP00000403525:P696L;ENSP00000360771:P1796L;ENSP00000290037:P1796L;ENSP00000387583:P1796L	ENSP00000277537:P368L	P	-	2	0	SEC16A	138468537	0.013000	0.17824	0.001000	0.08648	0.006000	0.05464	0.366000	0.20365	-0.012000	0.14223	-0.291000	0.09656	CCA	SEC16A	-	NULL		0.687	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139348716	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.004	A	A	139348716	G	A	139348716	3	1	134	1	0	0	0	0	1	0	0	0	14016	1348	47	4	1200	4	SEC16A	9	139348716	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	104034750	139348716	1864715	28	22429										
CREM	1390	genome.wustl.edu	37	chr10	35456676	35456677	+	Intron	DEL	TA	TA	-													0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gtggtggcatcagcataatcTatgtttcaggcgtcctatag							TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr10:35456676_35456677delTA	ENST00000395895.2	+	4	330				CREM_ENST00000479070.1_Intron|CREM_ENST00000395887.3_Frame_Shift_Del_p.L8fs|CREM_ENST00000374721.3_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000361599.4_Frame_Shift_Del_p.L8fs|CREM_ENST00000460270.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000484283.1_Frame_Shift_Del_p.L8fs			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CAGCATAATCTATGTTTCAGGC	0.381																																																	0																																										SO:0001627	intron_variant	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"basic leucine zipper proteins"	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.169-8104TA>-	10.37:g.35456676_35456677delTA			A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Frame_Shift_Del	DEL	pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.C9fs	ENST00000395895.2	37	c.23_24		10																																																																																			CREM	-	NULL		0.381	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		TA	NM_001881		35456677	1	no_errors	ENST00000395887	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	35456677	TA	-	35456676	6	5	134	0	1	1	0	1	0	0	0	0	3873	1522	53	0		0	CREM	10	35456676	Intron	DEL	TA	TCGA-FU-A3TX-01A-11D-A22X-09		35456676	100078071	29	22430										
CD151	977	genome.wustl.edu	37	chr11	836354	836354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ctacctggccacagcctacaTcctggtggtggcgggcactg	13	14	0	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:836354T>G	ENST00000397420.3	+	4	437	c.188T>G	c.(187-189)aTc>aGc	p.I63S	CD151_ENST00000528011.1_Missense_Mutation_p.I63S|CD151_ENST00000397421.1_Missense_Mutation_p.I63S|CD151_ENST00000322008.4_Missense_Mutation_p.I63S			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	63					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGCCTACATCCTGGTGGTG	0.652																																					Esophageal Squamous(14;501 559 15826 37823 38305)												0													56	44	48					11																	836354		2202	4299	6501	SO:0001583	missense	977			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"CD molecules", "Blood group antigens", "Tetraspanins"	1630	protein-coding gene	gene with protein product		602243	"CD151 antigen", "CD151 antigen (Raph blood group)"			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.188T>G	11.37:g.836354T>G	ENSP00000380565:p.Ile63Ser		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.I63S	ENST00000397420.3	37	c.188	CCDS7719.1	11	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907418	0.33628	.	.	ENSG00000177697	ENST00000397420;ENST00000525718;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000525333;ENST00000524748;ENST00000527341;ENST00000528867;ENST00000530320;ENST00000526439;ENST00000528011	T;T;T;T;T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;0.85;-1.46	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.85777	2.775	0.80722	D	1	P	0.42871	0.792	P	0.50537	0.643	D	0.89399	0.3694	10	0.87932	D	0	.	14.0845	0.64947	0.0:0.0:0.0:1.0	.	63	P48509	CD151_HUMAN	S	63	ENSP00000380565:I63S;ENSP00000435854:I63S;ENSP00000324101:I63S;ENSP00000380566:I63S;ENSP00000432258:I63S;ENSP00000435054:I63S;ENSP00000431671:I63S;ENSP00000431403:I63S;ENSP00000436591:I63S;ENSP00000433752:I63S;ENSP00000433787:I63S;ENSP00000434663:I63S;ENSP00000432990:I63S	ENSP00000324101:I63S	I	+	2	0	CD151	826354	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	4.795000	0.62489	1.928000	0.55862	0.379000	0.24179	ATC	CD151	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.652	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD151	HGNC	protein_coding	OTTHUMT00000257108.1	T	NM_004357		836354	1	no_errors	ENST00000322008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	836354	T	G	836354	3	3	134	1	0	0	0	0	1	0	0	0	2970	1435	50	5	194	5	CD151	11	836354	Missense_Mutation	SNP	T	TCGA-FU-A3TX-01A-11D-A22X-09		836354	134170162	30	22431										
PRPF19	27339	genome.wustl.edu	37	chr11	60666347	60666347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	aacttacagcagccggaggtCtcatctgtcaccttggtgag	11	11	3	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:60666347C>G	ENST00000227524.4	-	12	1246	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AGCCGGAGGTCTCATCTGTCA	0.408											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21	20	20					11																	60666347		2203	4299	6502	SO:0001583	missense	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1041G>C	11.37:g.60666347C>G	ENSP00000227524:p.Glu347Asp	1047		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E347D	ENST00000227524.4	37	c.1041	CCDS7995.1	11	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596375	0.28445	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	T;T	0.61742	0.08;5.02	5.07	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	N	0.02315	-0.6	0.52099	D	0.999948	B	0.09022	0.002	B	0.15052	0.012	T	0.07366	-1.0776	10	0.18710	T	0.47	-33.4093	8.2788	0.31887	0.0:0.7609:0.0:0.2391	.	347	Q9UMS4	PRP19_HUMAN	D	347;19	ENSP00000227524:E347D;ENSP00000445435:E19D	ENSP00000227524:E347D	E	-	3	2	PRPF19	60422923	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.344000	0.33941	1.370000	0.46153	0.655000	0.94253	GAG	PRPF19	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat_dom		0.408	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	C	NM_014502		60666347	-1	no_errors	ENST00000227524	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60666347	C	G	60666347	3	3	134	1	0	0	0	0	1	0	0	0	12591	912	32	1	493	1	PRPF19	11	60666347	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	59829993	60666347	74340169	31	22432										
INTS5	80789	genome.wustl.edu	37	chr11	62416283	62416283	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gtgtctggcacagccaggccCtgggtggtaatgaccgaagc	15	11	1	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:62416283C>G	ENST00000330574.2	-	2	1321	c.1269G>C	c.(1267-1269)caG>caC	p.Q423H	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	423					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCCAGGCCCTGGGTGGTAA	0.622																																																	0													51	43	46					11																	62416283		2202	4299	6501	SO:0001583	missense	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1269G>C	11.37:g.62416283C>G	ENSP00000327889:p.Gln423His		Q8N6W5|Q9C0G5	Missense_Mutation	SNP	NULL	p.Q423H	ENST00000330574.2	37	c.1269	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	C	2.352	-0.348517	0.05208	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.78	1.5	0.22942	.	0.128767	0.51477	D	0.000098	T	0.14787	0.0357	N	0.08118	0	0.25929	N	0.983011	B	0.02656	0.0	B	0.08055	0.003	T	0.09751	-1.0660	9	0.42905	T	0.14	.	3.1469	0.06474	0.2005:0.47:0.0:0.3295	.	423	Q6P9B9	INT5_HUMAN	H	423	.	ENSP00000327889:Q423H	Q	-	3	2	INTS5	62172859	0.943000	0.32029	1.000000	0.80357	0.875000	0.50365	-0.182000	0.09726	0.572000	0.29383	0.650000	0.86243	CAG	INTS5	-	NULL		0.622	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	C	NM_030628		62416283	-1	no_errors	ENST00000330574	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62416283	C	G	62416283	3	3	134	1	0	0	0	0	1	0	0	0	7801	680	24	4	1794	4	INTS5	11	62416283	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	1749936	62416283	72590233	32	22433										
KCTD14	65987	genome.wustl.edu	37	chr11	77728119	77728119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	atgtgctgtgtgggcacttgCccagtgcgcaggtagtccag	15	10	0	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:77728119C>T	ENST00000353172.5	-	2	332	c.288G>A	c.(286-288)ggG>ggA	p.G96G	KCTD14_ENST00000533144.1_Silent_p.G66G|NDUFC2-KCTD14_ENST00000530054.1_3'UTR|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	96	BTB.				protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGGCACTTGCCCAGTGCGCA	0.572																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												0													79	69	72					11																	77728119		2200	4292	6492	SO:0001819	synonymous_variant	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.288G>A	11.37:g.77728119C>T			B2R9R8	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.G96	ENST00000353172.5	37	c.288	CCDS8255.2	11																																																																																			KCTD14	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.572	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	C	NM_023930		77728119	-1	no_errors	ENST00000353172	ensembl	human	known	70_37	silent	SNP	0.968	T	T	77728119	C	T	77728119	2	4	134	1	0	0	0	0	0	0	0	1	8121	726	26	4		4	KCTD14	11	77728119	Silent	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	15311836	77728119	57278397	33	22434										
SESN3	143686	genome.wustl.edu	37	chr11	94926637	94926637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ttacttccttctctggaataAaggcacttggtcctcttgtc	7	11	2	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:94926637A>C	ENST00000536441.1	-	2	464	c.128T>G	c.(127-129)tTt>tGt	p.F43C	SESN3_ENST00000416495.2_Missense_Mutation_p.F43C|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.F43C|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	43					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CTCTGGAATAAAGGCACTTGG	0.279																																																	0													69	73	71					11																	94926637		2201	4291	6492	SO:0001583	missense	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.128T>G	11.37:g.94926637A>C	ENSP00000441927:p.Phe43Cys		B7Z7P9|Q96AD1	Missense_Mutation	SNP	pfam_PA26	p.F43C	ENST00000536441.1	37	c.128	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224213	0.79576	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495;ENST00000542176	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.67684	-0.5607	10	0.87932	D	0	-0.0559	16.6093	0.84858	1.0:0.0:0.0:0.0	.	43;43	P58005-3;P58005	.;SESN3_HUMAN	C	43;43;43;20	ENSP00000441927:F43C;ENSP00000376926:F43C;ENSP00000407008:F43C;ENSP00000439580:F20C	ENSP00000376926:F43C	F	-	2	0	SESN3	94566285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.960000	0.87893	2.324000	0.78689	0.533000	0.62120	TTT	SESN3	-	pfam_PA26		0.279	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	A	NM_144665		94926637	-1	no_errors	ENST00000536441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94926637	A	C	94926637	3	2	134	1	0	0	0	0	1	0	0	0	14156	14	1	5	1386	5	SESN3	11	94926637	Missense_Mutation	SNP	A	TCGA-FU-A3TX-01A-11D-A22X-09	17198518	94926637	40079879	34	22435										
SDHD	6392	genome.wustl.edu	37	chr11	111965693	111965693	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tgccatgctgtggaagctctGacctttttgacttcatactt	8	10	2	2	rs201372601		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:111965693G>C	ENST00000375549.3	+	4	614	c.479G>C	c.(478-480)tGa>tCa	p.*160S	SDHD_ENST00000532699.1_Intron|SDHD_ENST00000528048.1_3'UTR|SDHD_ENST00000528182.1_3'UTR|SDHD_ENST00000525291.1_Nonstop_Mutation_p.*121S|SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000528021.1_Intron	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	0					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TGGAAGCTCTGACCTTTTTGA	0.423			"Mis, N, F, S"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	11	11q23	6392	"succinate dehydrogenase complex, subunit D, integral membrane protein"		O	0																																										SO:0001578	stop_lost	6392	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"Mitochondrial respiratory chain complex / Complex II"	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.479G>C	11.37:g.111965693G>C	ENSP00000364699:p.*160Serext*3		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Nonstop_Mutation	SNP	pfam_Cyt_b_succ_DH_CybS	p.*160S	ENST00000375549.3	37	c.479	CCDS31678.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624236	0.46840	.	.	ENSG00000204370	ENST00000375549;ENST00000525291	.	.	.	4.76	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2207	0.37375	0.1648:0.0:0.8351:0.0	.	.	.	.	S	160;121	.	.	X	+	2	2	SDHD	111470903	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	1.273000	0.33121	1.237000	0.43756	0.591000	0.81541	TGA	SDHD	-	NULL		0.423	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHD	HGNC	protein_coding	OTTHUMT00000392351.1	G	NM_003002		111965693	1	no_errors	ENST00000375549	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	111965693	G	C	111965693	4	2	134	1	0	0	0	0	0	0	0	0	13997	1285	45	1	493	1	SDHD	11	111965693	Nonstop_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	17039056	111965693	23040823	35	22436										
PCSK7	9159	genome.wustl.edu	37	chr11	117094021	117094021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tgcgtccctcctcatccacaGctcctagggacagaggaggg	12	14	1	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:117094021G>A	ENST00000320934.3	-	9	1688	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	353	Peptidase S8.			A -> T (in Ref. 7; ACA06037). {ECO:0000305}.	peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCATCCACAGCTCCTAGGGA	0.552			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													78	66	70					11																	117094021		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1058C>T	11.37:g.117094021G>A	ENSP00000325917:p.Ala353Val		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.A353V	ENST00000320934.3	37	c.1058	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.073537	0.94000	.	.	ENSG00000160613	ENST00000320934;ENST00000543900	D	0.89617	-2.54	5.74	4.83	0.62350	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.518606	0.22425	N	0.060224	D	0.95385	0.8502	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95993	0.8987	10	0.87932	D	0	-1.4585	13.8586	0.63545	0.0731:0.0:0.9269:0.0	.	353	Q16549	PCSK7_HUMAN	V	353	ENSP00000325917:A353V	ENSP00000325917:A353V	A	-	2	0	PCSK7	116599231	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	8.960000	0.93117	1.434000	0.47414	0.655000	0.94253	GCT	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.552	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	G	NM_004716		117094021	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117094021	G	A	117094021	3	1	134	1	0	0	0	0	1	0	0	0	11629	971	34	4	1335	4	PCSK7	11	117094021	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	5128328	117094021	17912495	36	22437										
IQSEC3	440073	genome.wustl.edu	37	chr12	176519	176519	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	aaggagaaggagcgtcccccGagttgctgcgctgctgccgg	16	12	0	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:176519G>A	ENST00000538872.1	+	1	589	c.471G>A	c.(469-471)ccG>ccA	p.P157P	IQSEC3_ENST00000326261.4_Silent_p.P157P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	157					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCGTCCCCCGAGTTGCTGCG	0.682																																																	0													13	18	17					12																	176519		1547	3557	5104	SO:0001819	synonymous_variant	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.471G>A	12.37:g.176519G>A			A6NIF2|A6NKV9|Q8TB43	Silent	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.P157	ENST00000538872.1	37	c.471	CCDS53728.1	12																																																																																			IQSEC3	-	NULL		0.682	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	G	XM_495902		176519	1	no_errors	ENST00000326261	ensembl	human	known	70_37	silent	SNP	1.000	A	A	176519	G	A	176519	2	1	134	1	0	0	0	0	0	0	0	1	7839	1045	37	1		1	IQSEC3	12	176519	Silent	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		176519	133675376	37	22438										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43944941	43944941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	agcgatagtgggttcggaacGgcatgggttccagcgcctcg	16	10	0	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:43944941G>A	ENST00000389420.3	-	2	223	c.224C>T	c.(223-225)cCg>cTg	p.P75L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P75L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	75					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTTCGGAACGGCATGGGTTC	0.612																																																	0													111	105	107					12																	43944941		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.224C>T	12.37:g.43944941G>A	ENSP00000374071:p.Pro75Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P75L	ENST00000389420.3	37	c.224	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706544	0.48412	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.07327	3.2;3.2	3.57	2.68	0.31781	Peptidase M12B, propeptide (1);	0.271751	0.19837	N	0.104944	T	0.07593	0.0191	L	0.38531	1.155	0.24203	N	0.9955	P	0.48998	0.918	B	0.43508	0.422	T	0.23547	-1.0185	10	0.41790	T	0.15	.	7.697	0.28600	0.0931:0.1647:0.7422:0.0	.	75	P59510	ATS20_HUMAN	L	75	ENSP00000374071:P75L;ENSP00000448341:P75L	ENSP00000374068:P75L	P	-	2	0	ADAMTS20	42231208	0.928000	0.31464	0.070000	0.20053	0.957000	0.61999	2.902000	0.48703	1.074000	0.40909	-0.150000	0.13652	CCG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.612	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	G	NM_025003		43944941	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	0.020	A	A	43944941	G	A	43944941	3	1	134	1	0	0	0	0	1	0	0	0	266	1116	39	2	5659	2	ADAMTS20	12	43944941	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	43768422	43944941	89906954	38	22439										
LRP1	4035	genome.wustl.edu	37	chr12	57556149	57556149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cgcctttggcctgtgtcaccAtggcaactacctcttctgga	9	14	3	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:57556149A>G	ENST00000243077.3	+	14	2718	c.2252A>G	c.(2251-2253)cAt>cGt	p.H751R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	751					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGTCACCATGGCAACTAC	0.547																																																	0													232	187	202					12																	57556149		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2252A>G	12.37:g.57556149A>G	ENSP00000243077:p.His751Arg		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H751R	ENST00000243077.3	37	c.2252	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360022	0.61403	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.084720	0.47455	D	0.000230	D	0.85999	0.5828	L	0.49126	1.545	0.80722	D	1	B	0.34214	0.442	B	0.24155	0.051	D	0.85522	0.1204	10	0.41790	T	0.15	.	13.8986	0.63787	1.0:0.0:0.0:0.0	.	751	Q07954	LRP1_HUMAN	R	751	ENSP00000243077:H751R	ENSP00000243077:H751R	H	+	2	0	LRP1	55842416	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.901000	0.92560	2.187000	0.69744	0.460000	0.39030	CAT	LRP1	-	pfscan_LDLR_classB_rpt		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	A	NM_002332		57556149	1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57556149	A	G	57556149	3	3	134	1	0	0	0	0	1	0	0	0	8974	217	8	5	2306	5	LRP1	12	57556149	Missense_Mutation	SNP	A	TCGA-FU-A3TX-01A-11D-A22X-09	13611208	57556149	76295746	39	22440										
LRRC10	376132	genome.wustl.edu	37	chr12	70003979	70003979	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gtcatagatgaccagcttcaGacttgacaggtgcgccaggc	12	11	2	4			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:70003979G>C	ENST00000361484.3	-	1	963	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	214					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACCAGCTTCAGACTTGACAGG	0.577																																																	0													89	79	82					12																	70003979		2203	4300	6503	SO:0001583	missense	376132			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.640C>G	12.37:g.70003979G>C	ENSP00000355166:p.Leu214Val		Q6ZVY4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L214V	ENST00000361484.3	37	c.640	CCDS31856.1	12	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277922	0.59758	.	.	ENSG00000198812	ENST00000361484	T	0.57907	0.37	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.77103	2.36	0.46356	D	0.999005	D	0.76494	0.999	D	0.80764	0.994	T	0.68477	-0.5398	10	0.46703	T	0.11	.	8.8919	0.35439	0.2089:0.0:0.7911:0.0	.	214	Q5BKY1	LRC10_HUMAN	V	214	ENSP00000355166:L214V	ENSP00000355166:L214V	L	-	1	2	LRRC10	68290246	0.771000	0.28555	0.993000	0.49108	0.910000	0.53928	1.255000	0.32909	2.815000	0.96918	0.561000	0.74099	CTG	LRRC10	-	NULL		0.577	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10	HGNC	protein_coding	OTTHUMT00000403834.1	G	NM_201550		70003979	-1	no_errors	ENST00000361484	ensembl	human	known	70_37	missense	SNP	0.987	C	C	70003979	G	C	70003979	3	2	134	1	0	0	0	0	1	0	0	0	8990	933	33	1	197	1	LRRC10	12	70003979	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	12447830	70003979	63847916	40	22441										
LIG4	3981	genome.wustl.edu	37	chr13	108861015	108861015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	atctgcaacacgactatgatCttccccaattattacatgag	5	11	2	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr13:108861015C>T	ENST00000356922.4	-	2	2874	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	LIG4_ENST00000405925.1_Missense_Mutation_p.D868N|LIG4_ENST00000442234.1_Missense_Mutation_p.D868N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	868	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D868Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CGACTATGATCTTCCCCAATT	0.368								Non-homologous end-joining																																									1	Substitution - Missense(1)	lung(1)											99	97	98					13																	108861015		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2602G>A	13.37:g.108861015C>T	ENSP00000349393:p.Asp868Asn		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.D868N	ENST00000356922.4	37	c.2602	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470660	0.63625	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.46451	0.87;0.87;0.87	5.75	5.75	0.90469	BRCT (4);	0.159635	0.56097	D	0.000035	T	0.47637	0.1456	M	0.74258	2.255	0.49915	D	0.999835	B	0.13145	0.007	B	0.11329	0.006	T	0.37314	-0.9711	10	0.30078	T	0.28	.	18.9991	0.92826	0.0:1.0:0.0:0.0	.	868	P49917	DNLI4_HUMAN	N	868	ENSP00000385955:D868N;ENSP00000402030:D868N;ENSP00000349393:D868N	ENSP00000349393:D868N	D	-	1	0	LIG4	107659016	0.997000	0.39634	0.894000	0.35097	0.983000	0.72400	3.459000	0.53021	2.737000	0.93849	0.567000	0.79289	GAT	LIG4	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.368	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	C	NM_002312		108861015	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.993	T	T	108861015	C	T	108861015	3	4	134	1	0	0	0	0	1	0	0	0	8803	913	32	1	137	1	LIG4	13	108861015	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		108861015	6308863	41	22442										
CREBBP	1387	genome.wustl.edu	37	chr16	3801726	3801726	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	aaatgacaggacggtacttaCgtctggggctgtgaagggtc	15	7	1	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:3801726C>T	ENST00000262367.5	-	20	4589		c.e20+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGTACTTACGTCTGGGGCT	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	2	Unknown(2)	urinary_tract(1)|kidney(1)											199	144	163					16																	3801726		2197	4300	6497	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3779+1G>A	16.37:g.3801726C>T			D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	SNP	-	e20+1	ENST00000262367.5	37	c.3779+1	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661446	0.67700	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0728	0.93147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREBBP	3741727	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.481000	0.83766	0.655000	0.94253	.	CREBBP	-	-		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380	Intron	3801726	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	3801726	C	T	3801726	5	4	134	1	0	0	0	0	0	0	1	0	3866	550	19	2	3596	2	CREBBP	16	3801726	Splice_Site	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		3801726	86553027	42	22443										
GSPT1	2935	genome.wustl.edu	37	chr16	11971344	11971344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tggaagaatctcctcttcttCaattcctttcagtctgattt	5	10	6	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:11971344C>T	ENST00000563468.1	-	10	1134	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	GSPT1_ENST00000564790.1_5'Flank|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Missense_Mutation_p.E508K|GSPT1_ENST00000420576.2_Missense_Mutation_p.E370K|GSPT1_ENST00000439887.2_Missense_Mutation_p.E507K			P15170	ERF3A_HUMAN	G1 to S phase transition 1	370					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TCCTCTTCTTCAATTCCTTTC	0.388																																																	0													81	80	80					16																	11971344		2090	4248	6338	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1108G>A	16.37:g.11971344C>T	ENSP00000454351:p.Glu370Lys		J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.E508K	ENST00000563468.1	37	c.1522	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.114501	0.94339	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.62941	-0.01;-0.01;-0.01	4.98	4.98	0.66077	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	U	0.000000	T	0.69115	0.3075	L	0.28054	0.825	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.991	D;D;D	0.73708	0.981;0.981;0.958	T	0.73607	-0.3929	10	0.72032	D	0.01	-20.6844	16.8487	0.85988	0.0:1.0:0.0:0.0	.	507;504;370	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	K	508;507;370	ENSP00000398131:E508K;ENSP00000408399:E507K;ENSP00000399539:E370K	ENSP00000399539:E370K	E	-	1	0	GSPT1	11878845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.310000	0.77875	0.585000	0.79938	GAA	GSPT1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.388	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	C	NM_002094		11971344	-1	no_errors	ENST00000434724	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11971344	C	T	11971344	3	4	134	1	0	0	0	0	1	0	0	0	6846	835	29	1	407	1	GSPT1	16	11971344	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	8169618	11971344	78383409	43	22444										
PHLPP2	23035	genome.wustl.edu	37	chr16	71715677	71715677	+	Frame_Shift_Del	DEL	G	G	-													0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tagagtgtatcgaggcctccGggtctttctaactgcatgaa					rs368034412		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:71715677delG	ENST00000568954.1	-	6	1245	c.867delC	c.(865-867)cccfs	p.P289fs	PHLPP2_ENST00000356272.3_Frame_Shift_Del_p.P289fs|PHLPP2_ENST00000567016.1_Frame_Shift_Del_p.P324fs|PHLPP2_ENST00000393524.2_Frame_Shift_Del_p.P289fs|PHLPP2_ENST00000360429.3_Frame_Shift_Del_p.P289fs			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	289					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.P289P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CGAGGCCTCCGGGTCTTTCTA	0.443																																																	1	Substitution - coding silent(1)	lung(1)											118	114	115					16																	71715677		2198	4300	6498	SO:0001589	frameshift_variant	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.867delC	16.37:g.71715677delG	ENSP00000457991:p.Pro289fs		A1L374|Q9NV17|Q9Y2E3	Frame_Shift_Del	DEL	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.G290fs	ENST00000568954.1	37	c.867	CCDS32479.1	16																																																																																			PHLPP2	-	NULL		0.443	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	G	NM_015020		71715677	-1	no_errors	ENST00000356272	ensembl	human	known	70_37	frame_shift_del	DEL	0.997	-	-	71715677	G	-	71715677	7	5	134	1	0	1	0	1	0	0	0	0	11879	1103	39	0	3160	0	PHLPP2	16	71715677	Frame_Shift_Del	DEL	G	TCGA-FU-A3TX-01A-11D-A22X-09	59744333	71715677	18639076	44	22445										
WDR81	124997	genome.wustl.edu	37	chr17	1629541	1629541	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cattcgtagcaggcggggcgGgcggcggggaaccccctcat	17	13	1	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:1629541G>C	ENST00000409644.1	+	1	1288	c.1288G>C	c.(1288-1290)Ggc>Cgc	p.G430R	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	430	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCGGGGCGGGCGGCGGGGA	0.612																																																	0													17	23	21					17																	1629541		692	1587	2279	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1288G>C	17.37:g.1629541G>C	ENSP00000386609:p.Gly430Arg		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G430R	ENST00000409644.1	37	c.1288	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	6.620	0.482877	0.12581	.	.	ENSG00000167716	ENST00000409644	T	0.53423	0.62	5.4	2.69	0.31865	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58847	-0.7564	6	0.72032	D	0.01	.	9.3037	0.37863	0.3116:0.0:0.6884:0.0	.	.	.	.	R	430	ENSP00000386609:G430R	ENSP00000386609:G430R	G	+	1	0	WDR81	1576291	0.927000	0.31430	0.025000	0.17156	0.090000	0.18270	2.274000	0.43390	1.092000	0.41356	0.462000	0.41574	GGC	WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629541	1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	0.597	C	C	1629541	G	C	1629541	3	2	134	1	0	0	0	0	1	0	0	0	17361	1232	43	4	1352	4	WDR81	17	1629541	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		1629541	79565669	45	22446										
KDM6B	23135	genome.wustl.edu	37	chr17	7756374	7756374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gcaacgcgagagcctggtgcGggcagggaagaaaatcgctt	16	9	0	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:7756374G>T	ENST00000448097.2	+	21	4998	c.4667G>T	c.(4666-4668)cGg>cTg	p.R1556L	TMEM88_ENST00000301599.6_5'Flank|KDM6B_ENST00000254846.5_Missense_Mutation_p.R1556L|TMEM88_ENST00000574668.1_5'Flank			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1556					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R1556Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGCCTGGTGCGGGCAGGGAAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											119	101	107					17																	7756374		2203	4300	6503	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4667G>T	17.37:g.7756374G>T	ENSP00000412513:p.Arg1556Leu		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R1556L	ENST00000448097.2	37	c.4667		17	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257850	0.59321	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32515	1.45;1.45	5.28	4.29	0.51040	.	0.144589	0.45361	D	0.000374	T	0.31420	0.0796	N	0.19112	0.55	0.46241	D	0.998945	P;B	0.35077	0.483;0.059	P;B	0.46237	0.508;0.061	T	0.27331	-1.0077	10	0.66056	D	0.02	-15.7881	14.3353	0.66584	0.0:0.0:0.8502:0.1498	.	1556;1556	O15054;O15054-1	KDM6B_HUMAN;.	L	1556	ENSP00000254846:R1556L;ENSP00000412513:R1556L	ENSP00000254846:R1556L	R	+	2	0	KDM6B	7697099	0.010000	0.17322	1.000000	0.80357	0.916000	0.54674	1.719000	0.38011	1.320000	0.45209	0.462000	0.41574	CGG	KDM6B	-	NULL		0.622	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	G	XM_043272		7756374	1	no_errors	ENST00000254846	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7756374	G	T	7756374	3	4	134	1	0	0	0	0	1	0	0	0	8158	1116	39	2	4737	2	KDM6B	17	7756374	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	6126833	7756374	73438836	46	22447										
DNAH9	1770	genome.wustl.edu	37	chr17	11701024	11701024	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cagtcttgggaacttttgacCcagactctggtggaggcctt	12	10	2	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:11701024C>A	ENST00000262442.4	+	43	8402	c.8334C>A	c.(8332-8334)acC>acA	p.T2778T	DNAH9_ENST00000454412.2_Silent_p.T2778T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2778					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTTTGACCCAGACTCTGG	0.498																																																	0													177	139	152					17																	11701024		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8334C>A	17.37:g.11701024C>A			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T2778	ENST00000262442.4	37	c.8334	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11701024	1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	1.000	A	A	11701024	C	A	11701024	2	1	134	1	0	0	0	0	0	0	0	1	4618	610	22	4		4	DNAH9	17	11701024	Silent	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	3944650	11701024	69494186	47	22448										
DNAH9	1770	genome.wustl.edu	37	chr17	11786911	11786911	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tgatatttgcagtccgatctCacaaagcagcagaatggatt	9	8	1	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:11786911C>T	ENST00000262442.4	+	56	10883	c.10815C>T	c.(10813-10815)ctC>ctT	p.L3605L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L3605L|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3605	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCCGATCTCACAAAGCAGC	0.507																																																	0													120	105	110					17																	11786911		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10815C>T	17.37:g.11786911C>T			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3605	ENST00000262442.4	37	c.10815	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11786911	1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11786911	C	T	11786911	2	4	134	1	0	0	0	0	0	0	0	1	4618	813	29	1		1	DNAH9	17	11786911	Silent	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	85887	11786911	69408299	48	22449										
C17orf42	79736	genome.wustl.edu	37	chr17	29227455	29227455	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tctaaatagactgatgatgaGtatattcctctcattaaact	5	7	2	4			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:29227455G>T	ENST00000581216.1	-	3	1242	c.621C>A	c.(619-621)taC>taA	p.Y207*	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_Nonsense_Mutation_p.Y207*	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	207					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CTGATGATGAGTATATTCCTC	0.443																																																	0													103	98	100					17																	29227455		1900	4124	6024	SO:0001587	stop_gained	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.621C>A	17.37:g.29227455G>T	ENSP00000462963:p.Tyr207*		E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Nonsense_Mutation	SNP	superfamily_RNaseH-like_dom	p.Y207*	ENST00000581216.1	37	c.621	CCDS42291.1	17	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019011	0.54576	.	.	ENSG00000172171	ENST00000306049	.	.	.	5.97	5.97	0.96955	.	0.112469	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4516	13.2009	0.59767	0.0763:0.0:0.9237:0.0	.	.	.	.	X	207	.	ENSP00000306574:Y207X	Y	-	3	2	C17orf42	26251581	0.963000	0.33076	0.249000	0.24280	0.013000	0.08279	1.532000	0.36029	2.833000	0.97629	0.585000	0.79938	TAC	TEFM	-	superfamily_RNaseH-like_dom		0.443	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	G	NM_024683		29227455	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	nonsense	SNP	0.897	T	T	29227455	G	T	29227455	4	4	134	1	0	0	0	0	0	1	0	0	1860	1024	36	4	469	4	C17orf42	17	29227455	Nonsense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	17440544	29227455	51967755	49	22450										
GPR179	440435	genome.wustl.edu	37	chr17	36486721	36486721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	agaggtgtgagagctgtccaCgctgctgctcttggcagggg	17	9	1	2	rs201772198		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:36486721C>T	ENST00000342292.4	-	11	2751	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	911					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCTGTCCACGCTGCTGCTC	0.652																																																	0								T	MET/VAL	6,4212		0,6,2103	12	15	14		2731	-4	0	17		14	0,8498		0,0,4249	yes	missense	GPR179	NM_001004334.2	21	0,6,6352	TT,TC,CC		0.0,0.1422,0.0472	benign	911/2368	36486721	6,12710	2109	4249	6358	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2731G>A	17.37:g.36486721C>T	ENSP00000345060:p.Val911Met			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.V911M	ENST00000342292.4	37	c.2731	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.729616	0.00687	0.001422	0.0	ENSG00000188888	ENST00000342292	T	0.54675	0.56	5.04	-4.03	0.04021	.	0.821163	0.10800	N	0.632800	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.21759	-1.0236	10	0.10902	T	0.67	-0.0587	4.41	0.11429	0.0966:0.2855:0.0961:0.5218	.	911	Q6PRD1	GP179_HUMAN	M	911	ENSP00000345060:V911M	ENSP00000345060:V911M	V	-	1	0	GPR179	33740247	0.000000	0.05858	0.004000	0.12327	0.678000	0.39670	-1.942000	0.01541	-1.442000	0.01955	-0.361000	0.07541	GTG	GPR179	-	NULL		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36486721	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.001	T	T	36486721	C	T	36486721	3	4	134	1	0	0	0	0	1	0	0	0	6693	536	19	2	4376	2	GPR179	17	36486721	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	7259266	36486721	44708489	50	22451										
KCNH4	23415	genome.wustl.edu	37	chr17	40316184	40316184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gatcgggaaaagcggctgagGccctgtggggacataggaga	18	7	0	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:40316184G>A	ENST00000264661.3	-	12	2420	c.2088C>T	c.(2086-2088)ggC>ggT	p.G696G	KCNH4_ENST00000607371.1_Silent_p.G696G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	696					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGGCTGAGGCCCTGTGGGG	0.597																																					NSCLC(117;707 1703 2300 21308 31858)												0													51	33	39					17																	40316184		2183	4257	6440	SO:0001819	synonymous_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2088C>T	17.37:g.40316184G>A				Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G696	ENST00000264661.3	37	c.2088	CCDS11420.1	17																																																																																			KCNH4	-	NULL		0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40316184	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	silent	SNP	0.998	A	A	40316184	G	A	40316184	2	1	134	1	0	0	0	0	0	0	0	1	8054	1190	42	4		4	KCNH4	17	40316184	Silent	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	3829463	40316184	40879026	51	22452										
ITGA3	3675	genome.wustl.edu	37	chr17	48145499	48145499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ggtgggcaagtgctacgtgcGaggcaatgacctagagctgg	17	8	0	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:48145499G>A	ENST00000320031.8	+	4	824	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.R165Q	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	165					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGCTACGTGCGAGGCAATGAC	0.597																																																	0													142	125	131					17																	48145499		2203	4300	6503	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.494G>A	17.37:g.48145499G>A	ENSP00000315190:p.Arg165Gln		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R165Q	ENST00000320031.8	37	c.494	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003404	0.93287	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.71579	-0.58;-0.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.75961	-0.3133	10	0.24483	T	0.36	.	17.3847	0.87413	0.0:0.0:1.0:0.0	.	165;165	P26006-1;P26006	.;ITA3_HUMAN	Q	165;151;165	ENSP00000007722:R165Q;ENSP00000315190:R165Q	ENSP00000007722:R165Q	R	+	2	0	ITGA3	45500498	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.317000	0.65822	2.376000	0.81061	0.650000	0.86243	CGA	ITGA3	-	NULL		0.597	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	G	NM_005501		48145499	1	no_errors	ENST00000320031	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48145499	G	A	48145499	3	1	134	1	0	0	0	0	1	0	0	0	7897	1058	37	1	508	1	ITGA3	17	48145499	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	7829315	48145499	33049711	52	22453										
HEATR6	63897	genome.wustl.edu	37	chr17	58144895	58144895	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gaaggatgaggagactccatCtttttctgcagctccacttc	9	11	2	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:58144895C>G	ENST00000184956.6	-	8	1154	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	HEATR6_ENST00000585976.1_Missense_Mutation_p.D380H	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	380							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GAGACTCCATCTTTTTCTGCA	0.498																																																	0													101	87	92					17																	58144895		2203	4300	6503	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1138G>C	17.37:g.58144895C>G	ENSP00000184956:p.Asp380His		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D380H	ENST00000184956.6	37	c.1138	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393542	0.83011	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.34859	1.34	5.33	4.35	0.52113	Armadillo-type fold (1);	0.617862	0.18135	N	0.150617	T	0.34193	0.0889	L	0.51422	1.61	0.29037	N	0.885305	B;B	0.32693	0.38;0.38	B;B	0.32465	0.146;0.146	T	0.37526	-0.9702	10	0.66056	D	0.02	-0.2561	12.9204	0.58228	0.0:0.9216:0.0:0.0784	.	227;380	E7ESB9;Q6AI08	.;HEAT6_HUMAN	H	380;227	ENSP00000184956:D380H	ENSP00000184956:D380H	D	-	1	0	HEATR6	55499677	0.601000	0.26907	0.562000	0.28370	0.978000	0.69477	1.719000	0.38011	2.674000	0.91012	0.650000	0.86243	GAT	HEATR6	-	superfamily_ARM-type_fold		0.498	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	C	NM_022070		58144895	-1	no_errors	ENST00000184956	ensembl	human	known	70_37	missense	SNP	0.895	G	G	58144895	C	G	58144895	3	3	134	1	0	0	0	0	1	0	0	0	7053	913	32	1	2459	1	HEATR6	17	58144895	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	9999396	58144895	23050315	53	22454										
ATP8B1	5205	genome.wustl.edu	37	chr18	55322503	55322503	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gtttttgtaaaagaagtatcGtaggaacttgcacatcctta	8	6	0	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr18:55322503G>A	ENST00000283684.4	-	22	2853	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.R952*			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	952			R -> Q (in dbSNP:rs12968116). {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAGAAGTATCGTAGGAACTTG	0.418																																																	0			GRCh37	CM043830	ATP8B1	M							146	126	133					18																	55322503		2203	4300	6503	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2854C>T	18.37:g.55322503G>A	ENSP00000283684:p.Arg952*		Q9BTP8	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R952*	ENST00000283684.4	37	c.2854	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.126759	0.98667	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.9	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.0165	0.80443	0.0:0.0:0.8242:0.1758	.	.	.	.	X	952	.	ENSP00000283684:R952X	R	-	1	2	ATP8B1	53473501	0.998000	0.40836	0.957000	0.39632	0.979000	0.70002	2.640000	0.46579	2.786000	0.95864	0.561000	0.74099	CGA	ATP8B1	-	tigrfam_ATPase_P-typ_ion-transptr		0.418	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	G	NM_005603		55322503	-1	no_errors	ENST00000283684	ensembl	human	known	70_37	nonsense	SNP	0.974	A	A	55322503	G	A	55322503	4	1	134	1	0	0	0	0	0	1	0	0	1195	1153	40	2	925	2	ATP8B1	18	55322503	Nonsense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		55322503	22754745	54	22455										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47423967	47423967	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cctatgtagtggaaagtataGagaagagtagagagtccacg	13	5	0	3			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:47423967G>T	ENST00000404338.3	+	1	2035	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	679					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGAAAGTATAGAGAAGAGTAG	0.473																																																	0													29	30	29					19																	47423967		1914	4140	6054	SO:0001587	stop_gained	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2035G>T	19.37:g.47423967G>T	ENSP00000385720:p.Glu679*		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E679*	ENST00000404338.3	37	c.2035	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.579750	0.98371	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-36.952	18.9999	0.92829	0.0:0.0:1.0:0.0	.	.	.	.	X	679	.	ENSP00000324820:E679X	E	+	1	0	ARHGAP35	52115807	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.829000	0.99411	2.785000	0.95823	0.650000	0.86243	GAG	ARHGAP35	-	NULL		0.473	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47423967	1	no_errors	ENST00000404338	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47423967	G	T	47423967	4	4	134	1	0	0	0	0	0	1	0	0	6815	943	33	3	2037	3	ARHGAP35	19	47423967	Nonsense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		47423967	11705016	55	22456										
ZNF160	90338	genome.wustl.edu	37	chr19	53571415	53571415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	agaccttgccacactcattaCatttgtaacgcttttctcca	4	13	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:53571415C>T	ENST00000429604.1	-	7	2787	c.2372G>A	c.(2371-2373)tGt>tAt	p.C791Y	ZNF160_ENST00000601421.1_Missense_Mutation_p.C755Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.C791Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.C791Y	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	791					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATTACATTTGTAACG	0.438																																																	0													152	139	143					19																	53571415		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2372G>A	19.37:g.53571415C>T	ENSP00000406201:p.Cys791Tyr		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C791Y	ENST00000429604.1	37	c.2372	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059044	0.55325	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	D;D	0.85088	-1.94;-1.94	2.52	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93828	0.8026	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94677	0.7862	9	0.72032	D	0.01	.	12.1205	0.53889	0.0:1.0:0.0:0.0	.	791	Q9HCG1	ZN160_HUMAN	Y	791	ENSP00000406201:C791Y;ENSP00000409597:C791Y	ENSP00000409597:C791Y	C	-	2	0	ZNF160	58263227	0.948000	0.32251	0.019000	0.16419	0.051000	0.14879	2.996000	0.49449	1.384000	0.46424	0.591000	0.81541	TGT	ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	C	NM_033288		53571415	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.909	T	T	53571415	C	T	53571415	3	4	134	1	0	0	0	0	1	0	0	0	17769	478	17	4	88	4	ZNF160	19	53571415	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	6147448	53571415	5557568	56	22457										
ZNF160	90338	genome.wustl.edu	37	chr19	53573149	53573149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gtggtgacactgaggaaccaTtgttggtagacttctcaact	11	8	1	3			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:53573149T>C	ENST00000429604.1	-	7	1053	c.638A>G	c.(637-639)aAt>aGt	p.N213S	ZNF160_ENST00000601421.1_Missense_Mutation_p.N177S|ZNF160_ENST00000418871.1_Missense_Mutation_p.N213S|ZNF160_ENST00000599056.1_Missense_Mutation_p.N213S	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	213					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGAGGAACCATTGTTGGTAGA	0.388																																																	0													180	168	172					19																	53573149		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.638A>G	19.37:g.53573149T>C	ENSP00000406201:p.Asn213Ser		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N213S	ENST00000429604.1	37	c.638	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	T	7.329	0.618488	0.14129	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.06608	3.28;3.28	1.83	-2.94	0.05581	.	.	.	.	.	T	0.02610	0.0079	N	0.12961	0.28	0.09310	N	1	B	0.19583	0.037	B	0.14023	0.01	T	0.47058	-0.9146	9	0.07990	T	0.79	.	3.9399	0.09323	0.2074:0.501:0.0:0.2917	.	213	Q9HCG1	ZN160_HUMAN	S	213	ENSP00000406201:N213S;ENSP00000409597:N213S	ENSP00000409597:N213S	N	-	2	0	ZNF160	58264961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-0.898000	0.03906	-0.366000	0.07423	AAT	ZNF160	-	NULL		0.388	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	T	NM_033288		53573149	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.001	C	C	53573149	T	C	53573149	3	2	134	1	0	0	0	0	1	0	0	0	17769	1493	52	5	1822	5	ZNF160	19	53573149	Missense_Mutation	SNP	T	TCGA-FU-A3TX-01A-11D-A22X-09	1734	53573149	5555834	57	22458										
TMC2	117532	genome.wustl.edu	37	chr20	2621941	2621941	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	attctggccacgccccatctCagactcatccgtggaggtca	9	15	4	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr20:2621941C>G	ENST00000358864.1	+	20	2680	c.2665C>G	c.(2665-2667)Cag>Gag	p.Q889E		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	889					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGCCCCATCTCAGACTCATCC	0.597																																																	0													64	59	61					20																	2621941		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2665C>G	20.37:g.2621941C>G	ENSP00000351732:p.Gln889Glu		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.Q889E	ENST00000358864.1	37	c.2665	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382079	0.11524	.	.	ENSG00000149488	ENST00000358864	T	0.63580	-0.05	4.7	3.67	0.42095	.	1.211230	0.06090	N	0.663507	T	0.53222	0.1783	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.49570	-0.8926	10	0.02654	T	1	-2.2843	10.0938	0.42462	0.0:0.7959:0.204:0.0	.	889	Q8TDI7	TMC2_HUMAN	E	889	ENSP00000351732:Q889E	ENSP00000351732:Q889E	Q	+	1	0	TMC2	2569941	0.653000	0.27358	0.216000	0.23742	0.019000	0.09904	1.998000	0.40796	2.539000	0.85634	0.591000	0.81541	CAG	TMC2	-	NULL		0.597	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2621941	1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.293	G	G	2621941	C	G	2621941	3	3	134	1	0	0	0	0	1	0	0	0	16015	827	29	1	2743	1	TMC2	20	2621941	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		2621941	60403579	58	22459										
HNF4A	3172	genome.wustl.edu	37	chr20	43042336	43042336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ctctgtgcctcctcacagccGtccagaatgagcgggaccgg	12	15	2	2	rs377476335		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr20:43042336G>A	ENST00000316099.4	+	4	477	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	HNF4A_ENST00000443598.2_Missense_Mutation_p.V130I|HNF4A_ENST00000609795.1_Missense_Mutation_p.V108I|HNF4A_ENST00000316673.4_Missense_Mutation_p.V108I|HNF4A_ENST00000415691.2_Missense_Mutation_p.V130I|HNF4A_ENST00000457232.1_Missense_Mutation_p.V108I	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	130					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCACAGCCGTCCAGAATGA	0.632																																					Colon(79;2 1269 8820 14841 52347)												0			GRCh37	CM022020	HNF4A	M		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	67	53	58		388,322,322,322,388,388	5.2	0.9	20		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	HNF4A	NM_000457.3,NM_001030003.1,NM_001030004.1,NM_175914.3,NM_178849.1,NM_178850.1	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	130/475,108/443,108/396,108/453,130/465,130/418	43042336	1,13005	2203	4300	6503	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.388G>A	20.37:g.43042336G>A	ENSP00000312987:p.Val130Ile		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.V130I	ENST00000316099.4	37	c.388	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789069	0.90367	0.0	1.16E-4	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.16	5.16	0.70880	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (1);	0.056408	0.64402	N	0.000001	D	0.98346	0.9451	M	0.90309	3.105	0.80722	D	1	D;P;P;D;D;D;P	0.76494	0.998;0.639;0.639;0.999;0.998;0.999;0.942	P;B;B;D;P;D;P	0.64877	0.852;0.134;0.134;0.93;0.852;0.93;0.478	D	0.99482	1.0948	10	0.87932	D	0	.	18.643	0.91401	0.0:0.0:1.0:0.0	.	123;130;130;130;108;108;108	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	I	108;108;130;130;160;130	ENSP00000315180:V108I;ENSP00000396216:V108I;ENSP00000312987:V130I;ENSP00000410911:V130I;ENSP00000412111:V130I	ENSP00000312987:V130I	V	+	1	0	HNF4A	42475750	1.000000	0.71417	0.852000	0.33557	0.771000	0.43674	9.826000	0.99387	2.388000	0.81334	0.557000	0.71058	GTC	HNF4A	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	G			43042336	1	no_errors	ENST00000316099	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43042336	G	A	43042336	3	1	134	1	0	0	0	0	1	0	0	0	7273	1145	40	2	455	2	HNF4A	20	43042336	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	40420395	43042336	19983184	59	22460										
C21orf29	54084	genome.wustl.edu	37	chr21	45924730	45924730	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ggccaccaccaggaaataatCttctcccaccgagaaaaact	6	14	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr21:45924730C>A	ENST00000323084.4	-	11	1854	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	597					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGAAATAATCTTCTCCCACC	0.537																																																	0													86	81	83					21																	45924730		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1789G>T	21.37:g.45924730C>A	ENSP00000321987:p.Asp597Tyr			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.D597Y	ENST00000323084.4	37	c.1789	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864360	0.71949	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	D	0.84146	-1.81	4.72	4.72	0.59763	.	0.178825	0.47455	D	0.000233	D	0.87442	0.6178	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87947	0.2721	10	0.42905	T	0.14	-21.8458	18.1203	0.89569	0.0:1.0:0.0:0.0	.	597	Q8WU66	TSEAR_HUMAN	Y	597;450	ENSP00000321987:D597Y	ENSP00000321987:D597Y	D	-	1	0	TSPEAR	44749158	1.000000	0.71417	0.983000	0.44433	0.904000	0.53231	5.071000	0.64382	2.364000	0.80123	0.650000	0.86243	GAT	TSPEAR	-	pfam_EPTP,pfscan_EAR		0.537	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45924730	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45924730	C	A	45924730	3	1	134	1	0	0	0	0	1	0	0	0	2129	913	32	3	228	3	C21orf29	21	45924730	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		45924730	2205165	60	22461										
SEPT5	5413	genome.wustl.edu	37	chr22	19709996	19709996	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	agaggatgaagcagcagatgCaggaccagtgacgctcgccg	15	10	0	4			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr22:19709996C>G	ENST00000455784.2	+	12	1224	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	SEPT5_ENST00000383045.3_Missense_Mutation_p.Q376E|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000438754.2_3'UTR	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	367					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGCAGATGCAGGACCAGTG	0.697																																																	0													30	30	30					22																	19709996		2185	4286	6471	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.1099C>G	22.37:g.19709996C>G	ENSP00000391311:p.Gln367Glu		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.Q376E	ENST00000455784.2	37	c.1126	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402186	0.62288	.	.	ENSG00000184702	ENST00000455784;ENST00000383045	T;T	0.53206	0.64;0.63	3.57	3.57	0.40892	.	0.240620	0.34484	N	0.003931	T	0.41488	0.1161	L	0.47190	1.495	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33954	-0.9848	10	0.30078	T	0.28	.	15.7216	0.77713	0.0:1.0:0.0:0.0	.	367	Q99719	SEPT5_HUMAN	E	367;376	ENSP00000391311:Q367E;ENSP00000372515:Q376E	ENSP00000372515:Q376E	Q	+	1	0	SEPT5	18089996	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.688000	0.54699	2.011000	0.59026	0.411000	0.27672	CAG	SEPT5	-	pirsf_Septin		0.697	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	C	NM_002688		19709996	1	no_errors	ENST00000383045	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19709996	C	G	19709996	3	3	134	1	0	0	0	0	1	0	0	0	14097	711	25	4	1145	4	SEPT5	22	19709996	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09		19709996	31594570	61	22462										
SLC5A4	6527	genome.wustl.edu	37	chr22	32633298	32633298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	agggtgtctgtgtaaatcacCgaggccaagccccctagtga	12	11	2	1	rs142506993		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr22:32633298C>T	ENST00000266086.4	-	7	608	c.597G>A	c.(595-597)tcG>tcA	p.S199S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	199					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S199S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTAAATCACCGAGGCCAAGC	0.502																																																	1	Substitution - coding silent(1)	lung(1)						C		0,4406		0,0,2203	77	58	65		597	-9.1	0.4	22	dbSNP_134	65	1,8599		0,1,4299	no	coding-synonymous	SLC5A4	NM_014227.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		199/660	32633298	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.597G>A	22.37:g.32633298C>T			O15279	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.S199	ENST00000266086.4	37	c.597	CCDS13903.1	22																																																																																			SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.502	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	C	NM_014227		32633298	-1	no_errors	ENST00000266086	ensembl	human	known	70_37	silent	SNP	0.065	T	T	32633298	C	T	32633298	2	4	134	1	0	0	0	0	0	0	0	1	14697	639	23	2		2	SLC5A4	22	32633298	Silent	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	12923302	32633298	18671268	62	22463										
PLXNB2	23654	genome.wustl.edu	37	chr22	50724315	50724315	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	ggggctgggtcccaggaactGgggacagctgtcctcctggg	18	11	0	0			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr22:50724315G>A	ENST00000449103.1	-	11	2142	c.2002C>T	c.(2002-2004)Cag>Tag	p.Q668*	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q668*			O15031	PLXB2_HUMAN	plexin B2	668					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGGAACTGGGGACAGCTG	0.647																																																	0													56	60	59					22																	50724315		1989	4150	6139	SO:0001587	stop_gained	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2002C>T	22.37:g.50724315G>A	ENSP00000409171:p.Gln668*		A6QRH0|Q7KZU3|Q9BSU7	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.Q668*	ENST00000449103.1	37	c.2002	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	39	7.773322	0.98480	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.9	4.9	0.64082	.	0.707365	0.12283	N	0.482703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.5784	0.61888	0.0:0.0:1.0:0.0	.	.	.	.	X	668	.	ENSP00000352288:Q668X	Q	-	1	0	PLXNB2	49066442	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	7.425000	0.80255	2.275000	0.75901	0.561000	0.74099	CAG	PLXNB2	-	NULL		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	G	NM_012401		50724315	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	50724315	G	A	50724315	4	1	134	1	0	0	0	0	0	1	0	0	12148	1357	47	4	3622	4	PLXNB2	22	50724315	Nonsense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	18091017	50724315	580251	63	22464										
HUWE1	10075	genome.wustl.edu	37	chrX	53564617	53564617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	cacagccatgtcttctttccGgagcccctcatctaaacgct	6	16	4	0	rs121918525		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrX:53564617G>A	ENST00000342160.3	-	77	12494	c.12037C>T	c.(12037-12039)Cgg>Tgg	p.R4013W	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4013W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4013			R -> W (in MRXS-Turner). {ECO:0000269|PubMed:18252223}.		base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTTCTTTCCGGAGCCCCTCA	0.473																																																	0			GRCh37	CM081659	HUWE1	M	rs121918525						69	53	58					X																	53564617		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12037C>T	X.37:g.53564617G>A	ENSP00000340648:p.Arg4013Trp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4013W	ENST00000342160.3	37	c.12037	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.393378|2.393378	0.42410|0.42410	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.76968	.|-1.06;-1.06	5.78|5.78	5.78|5.78	0.91487|0.91487	.|HECT (1);	.|0.194057	.|0.43260	.|D	.|0.000600	D|D	0.87755|0.87755	0.6257|0.6257	M|M	0.82716|0.82716	2.605|2.605	0.58432|0.58432	A|A	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.77004	.|0.989;0.951;0.978	D|D	0.91178|0.91178	0.4974|0.4974	4|9	.|0.87932	.|D	.|0	.|.	11.5783|11.5783	0.50877|0.50877	0.0:0.0:0.8224:0.1776|0.0:0.0:0.8224:0.1776	.|.	.|835;4013;3997	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	L|W	3046;835|4013	.|ENSP00000340648:R4013W;ENSP00000262854:R4013W	.|ENSP00000262854:R4013W	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53581342|53581342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.405000|3.405000	0.52630|0.52630	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	CCG|CGG	HUWE1	-	superfamily_HECT		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53564617	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53564617	G	A	53564617	3	1	134	1	0	0	0	0	1	0	0	0	7481	1115	39	2	1115	2	HUWE1	23	53564617	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09		53564617	101705943	64	22465										
MAGEC1	9947	genome.wustl.edu	37	chrX	140996029	140996029	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	gcaggtacacgggctactttCctgtgatcttcaggaaagcc	11	11	2	1			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrX:140996029C>G	ENST00000285879.4	+	4	3125	c.2839C>G	c.(2839-2841)Cct>Gct	p.P947A	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P14A	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	947	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTACTTTCCTGTGATCTT	0.463										HNSCC(15;0.026)																																							0													144	134	137					X																	140996029		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2839C>G	X.37:g.140996029C>G	ENSP00000285879:p.Pro947Ala		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P947A	ENST00000285879.4	37	c.2839	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	8.173	0.792218	0.16258	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05139	3.49;3.49	0.837	0.837	0.18896	.	.	.	.	.	T	0.18676	0.0448	M	0.72576	2.205	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.04115	-1.0976	8	0.66056	D	0.02	.	.	.	.	.	947	O60732	MAGC1_HUMAN	A	947;14	ENSP00000285879:P947A;ENSP00000385500:P14A	ENSP00000285879:P947A	P	+	1	0	MAGEC1	140823695	0.000000	0.05858	0.003000	0.11579	0.302000	0.27658	-0.044000	0.12023	0.696000	0.31696	0.279000	0.19357	CCT	MAGEC1	-	pfam_MAGE,pfscan_MAGE		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140996029	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.003	G	G	140996029	C	G	140996029	3	3	134	1	0	0	0	0	1	0	0	0	9203	855	30	1	2845	1	MAGEC1	23	140996029	Missense_Mutation	SNP	C	TCGA-FU-A3TX-01A-11D-A22X-09	87431412	140996029	14274531	65	22466										
BRCC3	79184	genome.wustl.edu	37	chrX	154319066	154319066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.242424242424242	16	0.000560283472000714	2.56914285714286	4.81714285714286	1.60571428571429	0.737986306385978	0.906135085056201	10	tttcctttgatagactggccGggtactctacacttgcttcc	8	12	1	2			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrX:154319066G>A	ENST00000369462.1	+	7	525	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	BRCC3_ENST00000369459.2_Missense_Mutation_p.R167Q|BRCC3_ENST00000330045.7_Missense_Mutation_p.R167Q|BRCC3_ENST00000340647.4_Missense_Mutation_p.R168Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.R167Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	167					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGACTGGCCGGGTACTCTAC	0.388																																																	0													84	69	73					X																	154319066		1816	4073	5889	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.500G>A	X.37:g.154319066G>A	ENSP00000358474:p.Arg167Gln		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R167Q	ENST00000369462.1	37	c.500	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572982	0.86542	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.47869	0.87;0.87;0.83;0.83;0.85;0.84	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.45581	1.43	0.80722	D	1	B;D	0.89917	0.414;1.0	B;P	0.60541	0.034;0.876	T	0.60850	-0.7181	10	0.59425	D	0.04	-7.1234	14.6506	0.68794	0.0:0.0:1.0:0.0	.	167;167	P46736-2;P46736	.;BRCC3_HUMAN	Q	168;167;167;167;143;167;167	ENSP00000344103:R168Q;ENSP00000328641:R167Q;ENSP00000358471:R167Q;ENSP00000358474:R167Q;ENSP00000413170:R143Q;ENSP00000381998:R167Q	ENSP00000328641:R167Q	R	+	2	0	BRCC3	153972260	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.988000	0.88194	2.259000	0.74868	0.544000	0.68410	CGG	BRCC3	-	smart_JAB1_Mov34_MPN_PAD1		0.388	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	G	NM_024332		154319066	1	no_errors	ENST00000399042	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154319066	G	A	154319066	3	1	134	1	0	0	0	0	1	0	0	0	1503	1116	39	2	526	2	BRCC3	23	154319066	Missense_Mutation	SNP	G	TCGA-FU-A3TX-01A-11D-A22X-09	13323037	154319066	951494	66	22467										
PTPN22	26191	genome.wustl.edu	37	chr1	114401660	114401660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttgatgtagctggaatcctcAtcagaggttatcagggatag	12	6	3	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr1:114401660A>G	ENST00000359785.5	-	3	372	c.237T>C	c.(235-237)gaT>gaC	p.D79D	PTPN22_ENST00000525799.1_Silent_p.D79D|PTPN22_ENST00000528414.1_Silent_p.D79D|PTPN22_ENST00000420377.2_Silent_p.D79D|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000460620.1_Silent_p.D79D|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	79	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAATCCTCATCAGAGGTTA	0.373																																																	0													76	75	75					1																	114401660		2203	4300	6503	SO:0001819	synonymous_variant	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.237T>C	1.37:g.114401660A>G			A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D79	ENST00000359785.5	37	c.237	CCDS863.1	1																																																																																			PTPN22	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr_Pase_rcpt/non-rcpt		0.373	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	A	NM_015967		114401660	-1	no_errors	ENST00000359785	ensembl	human	known	70_37	silent	SNP	1.000	G	G	114401660	A	G	114401660	2	3	135	1	0	0	0	0	0	0	0	1	12817	214	8	5		5	PTPN22	1	114401660	Silent	SNP	A	TCGA-FU-A3WB-01A-11D-A22X-09		114401660	134848961	1	22468										
C2orf16	84226	genome.wustl.edu	37	chr2	27803001	27803001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	atcgtgaaagagatagacccGtcatacggagaagccctata	10	9	1	4	rs199693170		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:27803001G>A	ENST00000408964.2	+	1	3613	c.3562G>A	c.(3562-3564)Gtc>Atc	p.V1188I	ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1188						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGATAGACCCGTCATACGGAG	0.453																																																	0													93	92	92					2																	27803001		1931	4134	6065	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3562G>A	2.37:g.27803001G>A	ENSP00000386190:p.Val1188Ile		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.V1188I	ENST00000408964.2	37	c.3562	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	0	-2.744380	0.00087	.	.	ENSG00000221843	ENST00000408964	T	0.05025	3.51	5.19	-10.4	0.00318	.	.	.	.	.	T	0.01905	0.0060	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	9	0.05959	T	0.93	.	15.1402	0.72604	0.0999:0.0:0.7229:0.1772	.	1188	Q68DN1	CB016_HUMAN	I	1188	ENSP00000386190:V1188I	ENSP00000386190:V1188I	V	+	1	0	C2orf16	27656505	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.289000	0.01149	-2.544000	0.00483	-1.832000	0.00591	GTC	C2orf16	-	NULL		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	G	NM_032266		27803001	1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.000	A	A	27803001	G	A	27803001	3	1	135	1	0	0	0	0	1	0	0	0	2162	1145	40	2	3564	2	C2orf16	2	27803001	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09		27803001	215396372	2	22469										
USP34	9736	genome.wustl.edu	37	chr2	61505365	61505365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acttgttgcaagccttaggaGtcctgtaagcccatcatctt	8	11	2	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:61505365G>T	ENST00000398571.2	-	41	5444	c.5368C>A	c.(5368-5370)Ctc>Atc	p.L1790I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1790					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGCCTTAGGAGTCCTGTAAGC	0.353																																																	0													103	89	93					2																	61505365		1868	4100	5968	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5368C>A	2.37:g.61505365G>T	ENSP00000381577:p.Leu1790Ile		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L1790I	ENST00000398571.2	37	c.5368	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526981	0.64860	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.04551	3.64;3.6	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	L	0.49126	1.545	0.46901	D	0.999247	B	0.16802	0.019	B	0.16289	0.015	T	0.18840	-1.0324	10	0.37606	T	0.19	.	17.5316	0.87816	0.0:0.0:1.0:0.0	.	1790	Q70CQ2	UBP34_HUMAN	I	1638;1638;1790;68	ENSP00000381577:L1790I;ENSP00000410559:L68I	ENSP00000263989:L1638I	L	-	1	0	USP34	61358869	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.566000	0.67372	2.582000	0.87167	0.563000	0.77884	CTC	USP34	-	NULL		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	G			61505365	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61505365	G	T	61505365	3	4	135	1	0	0	0	0	1	0	0	0	17096	1029	36	4	5432	4	USP34	2	61505365	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	33702364	61505365	181694008	3	22470										
POTEE	445582	genome.wustl.edu	37	chr2	132021997	132021997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gaagtctgatgtggacatccGcaaagacctgtacaccaaca	9	11	1	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:132021997G>A	ENST00000356920.5	+	15	3063	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	990	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GTGGACATCCGCAAAGACCTG	0.572																																																	0													2	1	1					2																	132021997		409	553	962	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2969G>A	2.37:g.132021997G>A	ENSP00000439189:p.Arg990His		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.R990H	ENST00000356920.5	37	c.2969	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	14.82	2.651006	0.47362	.	.	ENSG00000188219	ENST00000356920	D	0.95885	-3.84	.	.	.	.	.	.	.	.	D	0.96892	0.8985	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	P	0.59171	0.853	D	0.94837	0.8001	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	990	Q6S8J3	POTEE_HUMAN	H	990	ENSP00000439189:R990H	ENSP00000439189:R990H	R	+	2	0	AC131180.1	131738467	1.000000	0.71417	0.215000	0.23724	0.217000	0.24651	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC	POTEE	-	pfam_Actin-like,smart_Actin-like		0.572	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		G	NM_001083538		132021997	1	no_errors	ENST00000356920	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132021997	G	A	132021997	3	1	135	1	0	0	0	0	1	0	0	0	12288	1087	38	2	3027	2	POTEE	2	132021997	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	70516632	132021997	111177376	4	22471										
THSD7B	80731	genome.wustl.edu	37	chr2	137814044	137814044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cggaggagtccagagtcgggCagtgtggtgttttcatgttg	17	6	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:137814044C>A	ENST00000409968.1	+	3	372	c.194C>A	c.(193-195)gCa>gAa	p.A65E	THSD7B_ENST00000413152.2_Missense_Mutation_p.A34E|THSD7B_ENST00000272643.3_Missense_Mutation_p.A65E|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	65	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAGTCGGGCAGTGTGGTGT	0.498																																																	0													69	74	73					2																	137814044		2014	4188	6202	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.194C>A	2.37:g.137814044C>A	ENSP00000387145:p.Ala65Glu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.A65E	ENST00000409968.1	37	c.194		2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432963	0.62844	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.89	4.97	0.65823	.	0.195079	0.31188	U	0.008096	T	0.38161	0.1030	L	0.33189	0.99	0.24012	N	0.996173	P	0.44627	0.839	B	0.35550	0.205	T	0.37549	-0.9701	10	0.07325	T	0.83	.	12.6768	0.56899	0.0:0.7983:0.1299:0.0718	.	34	C9JKN6	.	E	65;65;34	ENSP00000387145:A65E;ENSP00000272643:A65E;ENSP00000413841:A34E	ENSP00000272643:A65E	A	+	2	0	THSD7B	137530514	0.966000	0.33281	0.166000	0.22797	0.998000	0.95712	3.216000	0.51176	2.788000	0.95919	0.585000	0.79938	GCA	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		137814044	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	0.046	A	A	137814044	C	A	137814044	3	1	135	1	0	0	0	0	1	0	0	0	15910	710	25	4	107	4	THSD7B	2	137814044	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	5792047	137814044	105385329	5	22472										
MAP1D	254042	genome.wustl.edu	37	chr2	172943971	172943971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	agtgatctacccatggaggaGggcatggcattcactatagg	13	8	2	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:172943971G>T	ENST00000315796.4	+	8	1218	c.831G>T	c.(829-831)gaG>gaT	p.E277D	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	277					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CCATGGAGGAGGGCATGGCAT	0.507																																																	0													116	103	108					2																	172943971		2203	4300	6503	SO:0001583	missense	254042			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"methionine aminopeptidase 1D"	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.831G>T	2.37:g.172943971G>T	ENSP00000315152:p.Glu277Asp		Q1WNX3	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.E277D	ENST00000315796.4	37	c.831	CCDS2246.1	2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550434	0.45383	.	.	ENSG00000172878	ENST00000315796	T	0.79845	-1.31	6.17	3.41	0.39046	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.84597	0.5507	M	0.71581	2.175	0.48830	D	0.999712	P	0.52316	0.952	P	0.55871	0.786	D	0.84599	0.0671	10	0.62326	D	0.03	-5.7442	10.02	0.42037	0.2081:0.0:0.7919:0.0	.	277	Q6UB28	AMP1D_HUMAN	D	277	ENSP00000315152:E277D	ENSP00000315152:E277D	E	+	3	2	METAP1D	172652217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.738000	0.38207	0.929000	0.37192	0.655000	0.94253	GAG	METAP1D	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1		0.507	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	G	NM_199227		172943971	1	no_errors	ENST00000315796	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172943971	G	T	172943971	3	4	135	1	0	0	0	0	1	0	0	0	9252	991	35	4	861	4	MAP1D	2	172943971	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	35129927	172943971	70255402	6	22473										
EPHA4	2043	genome.wustl.edu	37	chr2	222291250	222291250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ctgtgaagttatccttatacCggtccattttaatggcctgg	9	9	0	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:222291250C>T	ENST00000281821.2	-	16	2821	c.2780G>A	c.(2779-2781)cGg>cAg	p.R927Q	EPHA4_ENST00000409938.1_Missense_Mutation_p.R927Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R876Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R927Q|EPHA4_ENST00000469354.1_5'Flank	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	927	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.R927L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATCCTTATACCGGTCCATTTT	0.478																																																	2	Substitution - Missense(2)	lung(2)											82	73	76					2																	222291250		2203	4300	6503	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2780G>A	2.37:g.222291250C>T	ENSP00000281821:p.Arg927Gln		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R927Q	ENST00000281821.2	37	c.2780	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364804	0.24684	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.77	5.77	0.91146	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	N	0.21508	0.67	0.80722	D	1	B	0.27068	0.167	B	0.17722	0.019	T	0.68640	-0.5355	10	0.10902	T	0.67	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	927	P54764	EPHA4_HUMAN	Q	927;927;927;876	ENSP00000281821:R927Q;ENSP00000386276:R927Q;ENSP00000386829:R927Q;ENSP00000375923:R876Q	ENSP00000281821:R927Q	R	-	2	0	EPHA4	221999494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.947000	0.63583	2.723000	0.93209	0.655000	0.94253	CGG	EPHA4	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM		0.478	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222291250	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	222291250	C	T	222291250	3	4	135	1	0	0	0	0	1	0	0	0	5181	652	23	2	188	2	EPHA4	2	222291250	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	49347279	222291250	20908123	7	22474										
C2orf85	285093	genome.wustl.edu	37	chr2	242812025	242812025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	agcctggtcccgggatgcctGgacggcggtggtgtccagta	17	11	0	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr2:242812025G>A	ENST00000343216.3	+	1	145	c.117G>A	c.(115-117)ctG>ctA	p.L39L		NM_173821.2	NP_776182.2																					CGGGATGCCTGGACGGCGGTG	0.667																																																	0													27	36	33					2																	242812025		2041	4194	6235	SO:0001819	synonymous_variant	0																														ENST00000343216.3:c.117G>A	2.37:g.242812025G>A				Silent	SNP	NULL	p.L39	ENST00000343216.3	37	c.117	CCDS42843.1	2																																																																																			CXXC11	-	NULL		0.667	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1	G			242812025	1	no_errors	ENST00000343216	ensembl	human	known	70_37	silent	SNP	0.036	A	A	242812025	G	A	242812025	2	1	135	1	0	0	0	0	0	0	0	1	2205	1335	47	4		4	C2orf85	2	242812025	Silent	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	20520775	242812025	387348	8	22475										
EFHB	151651	genome.wustl.edu	37	chr3	19974996	19974996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aaacacaggtagactcttttTccatttcctgtcttggttcc	6	11	2	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:19974996T>G	ENST00000295824.9	-	1	676	c.515A>C	c.(514-516)gAa>gCa	p.E172A	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	172							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGACTCTTTTTCCATTTCCTG	0.502																																																	0													107	110	109					3																	19974996		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.515A>C	3.37:g.19974996T>G	ENSP00000295824:p.Glu172Ala		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E172A	ENST00000295824.9	37	c.515	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651956	0.29336	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.35605	1.3;1.54	3.75	1.4	0.22301	.	.	.	.	.	T	0.24084	0.0583	L	0.42245	1.32	0.26072	N	0.981206	P	0.37061	0.58	B	0.32211	0.142	T	0.11372	-1.0590	8	.	.	.	-14.3375	5.1413	0.14961	0.0:0.243:0.0:0.757	.	172	Q8N7U6	EFHB_HUMAN	A	172	ENSP00000295824:E172A;ENSP00000373908:E172A	.	E	-	2	0	EFHB	19950000	0.000000	0.05858	0.268000	0.24571	0.084000	0.17831	-0.174000	0.09839	0.312000	0.23038	0.459000	0.35465	GAA	EFHB	-	NULL		0.502	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	T	NM_144715		19974996	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	0.382	G	G	19974996	T	G	19974996	3	3	135	1	0	0	0	0	1	0	0	0	4955	1783	62	5	2038	5	EFHB	3	19974996	Missense_Mutation	SNP	T	TCGA-FU-A3WB-01A-11D-A22X-09		19974996	178047434	9	22476										
TRANK1	9881	genome.wustl.edu	37	chr3	36872496	36872496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gtggatccatacactttgctCgatgtcctgcaccaccagct	8	14	0	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:36872496C>T	ENST00000429976.2	-	21	8693	c.8446G>A	c.(8446-8448)Gag>Aag	p.E2816K	TRANK1_ENST00000301807.6_Missense_Mutation_p.E2266K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2266K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2816							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACACTTTGCTCGATGTCCTGC	0.542																																																	0													246	241	243					3																	36872496		2111	4225	6336	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8446G>A	3.37:g.36872496C>T	ENSP00000416168:p.Glu2816Lys		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.E2816K	ENST00000429976.2	37	c.8446	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513262	0.27123	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30448	1.53;1.94;1.53	4.96	2.12	0.27331	.	0.241922	0.29087	N	0.013196	T	0.13114	0.0318	L	0.29908	0.895	0.18873	N	0.999986	P	0.36144	0.539	B	0.19148	0.024	T	0.18840	-1.0324	10	0.16896	T	0.51	.	4.5315	0.12008	0.1484:0.5352:0.0:0.3163	.	2816	O15050	TRNK1_HUMAN	K	2266;2816;2266	ENSP00000416826:E2266K;ENSP00000416168:E2816K;ENSP00000301807:E2266K	ENSP00000301807:E2266K	E	-	1	0	TRANK1	36847500	0.987000	0.35691	0.381000	0.26106	0.551000	0.35334	2.721000	0.47260	0.349000	0.23975	0.555000	0.69702	GAG	TRANK1	-	NULL		0.542	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		C	NM_014831		36872496	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	missense	SNP	0.198	T	T	36872496	C	T	36872496	3	4	135	1	0	0	0	0	1	0	0	0	16485	893	31	1	343	1	TRANK1	3	36872496	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	16897500	36872496	161149934	10	22477										
ZBTB20	26137	genome.wustl.edu	37	chr3	114069161	114069161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttgacgtagttctgtttggcGgtgaaagtcttgttgcagag	14	5	2	3	rs142230895		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:114069161G>A	ENST00000474710.1	-	4	1942	c.1764C>T	c.(1762-1764)acC>acT	p.T588T	ZBTB20_ENST00000481632.1_Silent_p.T515T|ZBTB20_ENST00000464560.1_Silent_p.T515T|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.T515T|ZBTB20_ENST00000393785.2_Silent_p.T515T|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.T515T|ZBTB20_ENST00000462705.1_Silent_p.T515T|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	588						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCTGTTTGGCGGTGAAAGTCT	0.592																																					NSCLC(69;748 1344 9802 11203 30933)												0								G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	180	177	178		1764,1545,1545,1545,1545,1545,1545	3.1	1	3	dbSNP_134	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZBTB20	NM_001164342.1,NM_001164343.1,NM_001164344.1,NM_001164345.1,NM_001164346.1,NM_001164347.1,NM_015642.4	,,,,,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,,,,,	588/742,515/669,515/669,515/669,515/669,515/669,515/669	114069161	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1764C>T	3.37:g.114069161G>A			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T588	ENST00000474710.1	37	c.1764	CCDS54626.1	3																																																																																			ZBTB20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	G	NM_015642		114069161	-1	no_errors	ENST00000474710	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114069161	G	A	114069161	2	1	135	1	0	0	0	0	0	0	0	1	17559	1103	39	2		2	ZBTB20	3	114069161	Silent	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	77196665	114069161	83953269	11	22478										
COL6A5	256076	genome.wustl.edu	37	chr3	130095415	130095415	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ggagagacaggaaacagtttCccccaattttggtggtcctg	12	9	0	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:130095415C>G	ENST00000432398.2	+	3	897	c.403C>G	c.(403-405)Ccc>Gcc	p.P135A	COL6A5_ENST00000265379.6_Missense_Mutation_p.P135A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	135	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAACAGTTTCCCCCAATTTT	0.522																																																	0													55	58	57					3																	130095415		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.403C>G	3.37:g.130095415C>G	ENSP00000390895:p.Pro135Ala		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P135A	ENST00000432398.2	37	c.403		3	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385450	0.25031	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.84442	-1.85;-1.85	5.14	5.14	0.70334	.	.	.	.	.	D	0.91895	0.7434	M	0.81239	2.535	0.31225	N	0.69696	D	0.89917	1.0	D	0.97110	1.0	D	0.90601	0.4544	9	0.72032	D	0.01	.	11.9715	0.53065	0.0:0.915:0.0:0.085	.	135	A8TX70-2	.	A	135	ENSP00000390895:P135A;ENSP00000265379:P135A	ENSP00000265379:P135A	P	+	1	0	COL6A5	131578105	0.998000	0.40836	0.995000	0.50966	0.157000	0.22087	3.802000	0.55553	2.552000	0.86080	0.557000	0.71058	CCC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.522	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		C	NM_153264		130095415	1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	1.000	G	G	130095415	C	G	130095415	3	3	135	1	0	0	0	0	1	0	0	0	3707	855	30	1	409	1	COL6A5	3	130095415	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	16026254	130095415	67927015	12	22479										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	135	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	48840676	178936091	19086339	13	22480										
ATP11B	23200	genome.wustl.edu	37	chr3	182597360	182597360	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ctcttgcactcagggagcatGaaaaactatttatggaagtt	9	7	2	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:182597360G>A	ENST00000323116.5	+	20	2589	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	777					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAGGGAGCATGAAAAACTATT	0.368																																																	0													103	103	103					3																	182597360		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2329G>A	3.37:g.182597360G>A	ENSP00000321195:p.Glu777Lys		Q96FN1|Q9UKK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E777K	ENST00000323116.5	37	c.2329	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.897008|3.897008	0.72639|0.72639	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	D;D|.	0.83992|.	-1.79;-1.79|.	4.78|4.78	4.78|4.78	0.61160|0.61160	HAD-like domain (1);|.	0.103621|.	0.64402|.	D|.	0.000003|.	T|T	0.58892|0.58892	0.2154|0.2154	L|L	0.35487|0.35487	1.065|1.065	0.80722|0.80722	D|D	1|1	P;B|.	0.52170|.	0.951;0.001|.	P;B|.	0.56216|.	0.794;0.003|.	T|T	0.54827|0.54827	-0.8235|-0.8235	10|5	0.13108|.	T|.	0.6|.	.|.	17.9966|17.9966	0.89185|0.89185	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	351;777|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	K|I	777;12|577	ENSP00000321195:E777K;ENSP00000417124:E12K|.	ENSP00000321195:E777K|.	E|M	+|+	1|3	0|0	ATP11B|ATP11B	184080054|184080054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	9.197000|9.197000	0.94985|0.94985	2.475000|2.475000	0.83589|0.83589	0.585000|0.585000	0.79938|0.79938	GAA|ATG	ATP11B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl		0.368	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	G	NM_014616		182597360	1	no_errors	ENST00000323116	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182597360	G	A	182597360	3	1	135	1	0	0	0	0	1	0	0	0	1121	1291	45	1	2407	1	ATP11B	3	182597360	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	3661269	182597360	15425070	14	22481										
MCF2L2	23101	genome.wustl.edu	37	chr3	183145719	183145719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tgatcactgtggccagtcgcCgggtgagctcctggggaggc	17	11	1	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr3:183145719C>G	ENST00000328913.3	-	1	344	c.47G>C	c.(46-48)cGg>cCg	p.R16P	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R16P|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R16P|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R16P	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	16	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGCCAGTCGCCGGGTGAGCTC	0.463																																																	0													95	100	98					3																	183145719		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.47G>C	3.37:g.183145719C>G	ENSP00000328118:p.Arg16Pro		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R16P	ENST00000328913.3	37	c.47	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857889	0.71834	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.05786	4.49;4.53;3.65;3.39	5.31	4.31	0.51392	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.430200	0.18350	N	0.143920	T	0.10508	0.0257	N	0.22421	0.69	0.28666	N	0.905891	P;D	0.76494	0.812;0.999	B;D	0.67725	0.173;0.953	T	0.06427	-1.0827	10	0.62326	D	0.03	.	5.939	0.19181	0.0:0.8368:0.0:0.1632	.	16;16	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	P	16	ENSP00000328118:R16P;ENSP00000420070:R16P;ENSP00000388190:R16P;ENSP00000414131:R16P	ENSP00000328118:R16P	R	-	2	0	MCF2L2	184628413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.822000	0.39052	2.474000	0.83562	0.655000	0.94253	CGG	MCF2L2	-	pfscan_CRAL-TRIO_dom		0.463	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		183145719	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183145719	C	G	183145719	3	3	135	1	0	0	0	0	1	0	0	0	9403	652	23	2	3417	2	MCF2L2	3	183145719	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	548359	183145719	14876711	15	22482										
TMPRSS11D	9407	genome.wustl.edu	37	chr4	68692991	68692991	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acacttaccagcatattcttGagcgccccatcctgttacat	5	14	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr4:68692991G>A	ENST00000283916.6	-	8	1038	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	TMPRSS11D_ENST00000545541.1_Nonsense_Mutation_p.Q197*|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	314	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCATATTCTTGAGCGCCCCAT	0.378																																																	0													106	105	105					4																	68692991		2203	4299	6502	SO:0001587	stop_gained	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.940C>T	4.37:g.68692991G>A	ENSP00000283916:p.Gln314*		Q08AF6	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q314*	ENST00000283916.6	37	c.940	CCDS3518.1	4	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858762	0.71834	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	.	.	.	5.38	-0.146	0.13432	.	1.851080	0.02892	N	0.134339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.916	0.35581	0.0:0.2428:0.3972:0.3599	.	.	.	.	X	314;197	.	ENSP00000283916:Q314X	Q	-	1	0	TMPRSS11D	68375586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.033000	0.13754	0.003000	0.14656	0.655000	0.94253	CAA	TMPRSS11D	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6		0.378	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11D	HGNC	protein_coding	OTTHUMT00000251430.3	G	NM_004262		68692991	-1	no_errors	ENST00000283916	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	68692991	G	A	68692991	4	1	135	1	0	0	0	0	0	1	0	0	16271	1299	45	1	328	1	TMPRSS11D	4	68692991	Nonsense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09		68692991	122461285	16	22483										
PCDHB10	56126	genome.wustl.edu	37	chr5	140573047	140573047	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tctttctcagagaattgcttGattatgagttagtaaattct	7	5	3	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr5:140573047G>C	ENST00000239446.4	+	1	1106	c.922G>C	c.(922-924)Gat>Cat	p.D308H		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAATTGCTTGATTATGAGTT	0.368																																																	0													54	59	58					5																	140573047		2202	4297	6499	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.922G>C	5.37:g.140573047G>C	ENSP00000239446:p.Asp308His		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D308H	ENST00000239446.4	37	c.922	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591644	0.46214	.	.	ENSG00000120324	ENST00000239446	T	0.65364	-0.15	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85405	0.5689	H	0.99415	4.555	0.39990	D	0.975021	D	0.76494	0.999	D	0.79784	0.993	D	0.86678	0.1915	9	0.87932	D	0	.	6.222	0.20687	0.1061:0.1922:0.7017:0.0	.	308	Q9UN67	PCDBA_HUMAN	H	308	ENSP00000239446:D308H	ENSP00000239446:D308H	D	+	1	0	PCDHB10	140553231	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	7.778000	0.85637	1.930000	0.55929	0.556000	0.70494	GAT	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	G	NM_018930		140573047	1	no_errors	ENST00000239446	ensembl	human	known	70_37	missense	SNP	0.996	C	C	140573047	G	C	140573047	3	2	135	1	0	0	0	0	1	0	0	0	11559	1290	45	1	924	1	PCDHB10	5	140573047	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09		140573047	40342213	17	22484										
TLX3	30012	genome.wustl.edu	37	chr5	170738602	170738602	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cgctgtcacctccctggtgtGagcccaccagcgcgcaccgt	11	18	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr5:170738602G>C	ENST00000296921.5	+	3	957	c.875G>C	c.(874-876)tGa>tCa	p.*292S		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	0					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCTGGTGTGAGCCCACCAG	0.706			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)			Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	0													39	30	33					5																	170738602		2203	4300	6503	SO:0001578	stop_lost	30012			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.875G>C	5.37:g.170738602G>C	ENSP00000296921:p.*292Serext*80		Q96AD3	Nonstop_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.*292S	ENST00000296921.5	37	c.875	CCDS34288.1	5	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335969	0.41398	.	.	ENSG00000164438	ENST00000296921	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1357	0.42706	0.0953:0.0:0.9047:0.0	.	.	.	.	S	292	.	.	X	+	2	2	TLX3	170671207	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	0.741000	0.26202	1.986000	0.57962	0.491000	0.48974	TGA	TLX3	-	NULL		0.706	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TLX3	HGNC	protein_coding	OTTHUMT00000372076.3	G			170738602	1	no_errors	ENST00000296921	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	170738602	G	C	170738602	4	2	135	1	0	0	0	0	0	0	0	0	15992	1285	45	1	885	1	TLX3	5	170738602	Nonstop_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	30165555	170738602	10176658	18	22485										
GPLD1	2822	genome.wustl.edu	37	chr6	24456815	24456815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aactgagagccacctatgaaCattgtccttatgttcctttc	6	11	0	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:24456815C>T	ENST00000230036.1	-	13	1169	c.1059G>A	c.(1057-1059)atG>atA	p.M353I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	353					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CACCTATGAACATTGTCCTTA	0.408																																																	0													209	205	206					6																	24456815		2203	4300	6503	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1059G>A	6.37:g.24456815C>T	ENSP00000230036:p.Met353Ile		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.M353I	ENST00000230036.1	37	c.1059	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.269830	0.01421	.	.	ENSG00000112293	ENST00000230036	T	0.64085	-0.08	5.35	1.2	0.21068	.	0.501747	0.22043	N	0.065422	T	0.19886	0.0478	L	0.50919	1.6	0.24195	N	0.995535	B	0.14438	0.01	B	0.10450	0.005	T	0.24512	-1.0158	10	0.07175	T	0.84	-7.4765	1.6002	0.02672	0.1332:0.4148:0.1297:0.3223	.	353	P80108	PHLD_HUMAN	I	353	ENSP00000230036:M353I	ENSP00000230036:M353I	M	-	3	0	GPLD1	24564794	0.023000	0.18921	0.001000	0.08648	0.011000	0.07611	-0.109000	0.10840	-0.004000	0.14419	-0.140000	0.14226	ATG	GPLD1	-	NULL		0.408	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	C	NM_001503		24456815	-1	no_errors	ENST00000230036	ensembl	human	known	70_37	missense	SNP	0.006	T	T	24456815	C	T	24456815	3	4	135	1	0	0	0	0	1	0	0	0	6633	478	17	4	1515	4	GPLD1	6	24456815	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		24456815	146658252	19	22486										
ZNF311	282890	genome.wustl.edu	37	chr6	28971356	28971356	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gcttggtggtcctgaactctCatccaacagcacaacctatt	7	13	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:28971356C>T	ENST00000377179.3	-	3	537	c.25G>A	c.(25-27)Gag>Aag	p.E9K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTGAACTCTCATCCAACAGC	0.483																																																	0													151	160	156					6																	28971356		1511	2709	4220	SO:0001583	missense	282890			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.25G>A	6.37:g.28971356C>T	ENSP00000366384:p.Glu9Lys		A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E9K	ENST00000377179.3	37	c.25	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770128	0.31320	.	.	ENSG00000197935	ENST00000377179	T	0.04862	3.54	2.55	2.55	0.30701	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.17098	0.017	T	0.48547	-0.9026	9	0.49607	T	0.09	.	8.7337	0.34514	0.0:1.0:0.0:0.0	.	9	Q5JNZ3	ZN311_HUMAN	K	9	ENSP00000366384:E9K	ENSP00000366384:E9K	E	-	1	0	ZNF311	29079335	0.000000	0.05858	0.003000	0.11579	0.122000	0.20287	0.569000	0.23638	1.703000	0.51240	0.591000	0.81541	GAG	ZNF311	-	NULL		0.483	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	HGNC	protein_coding	OTTHUMT00000076631.3	C	XM_212581		28971356	-1	no_errors	ENST00000377179	ensembl	human	known	70_37	missense	SNP	0.003	T	T	28971356	C	T	28971356	3	4	135	1	0	0	0	0	1	0	0	0	17864	835	29	1	1995	1	ZNF311	6	28971356	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	4514541	28971356	142143711	20	22487										
TRIM10	10107	genome.wustl.edu	37	chr6	30128238	30128238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ccgctgcatcctccaggaagCgcatggtgtgggtagcgtgc	15	12	0	0	rs376088104		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:30128238C>T	ENST00000449742.2	-	1	473	c.398G>A	c.(397-399)cGc>cAc	p.R133H	TRIM10_ENST00000376704.3_Missense_Mutation_p.R133H|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	133					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CTCCAGGAAGCGCATGGTGTG	0.572																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	66	57	60		398,398	3.2	1	6		60	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TRIM10	NM_006778.3,NM_052828.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	133/482,133/396	30128238	2,13004	2203	4300	6503	SO:0001583	missense	10107			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.398G>A	6.37:g.30128238C>T	ENSP00000397073:p.Arg133His		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R133H	ENST00000449742.2	37	c.398	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474099	0.43942	0.0	2.33E-4	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.57107	0.42;0.42	5.11	3.19	0.36642	Zinc finger, B-box (2);	0.374032	0.23402	N	0.048579	T	0.48926	0.1527	M	0.78285	2.405	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.69824	0.966;0.87	T	0.35599	-0.9782	10	0.20519	T	0.43	.	3.708	0.08408	0.1672:0.579:0.1622:0.0916	.	133;133	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	H	133	ENSP00000397073:R133H;ENSP00000365894:R133H	ENSP00000365894:R133H	R	-	2	0	TRIM10	30236217	0.000000	0.05858	0.965000	0.40720	0.099000	0.18886	-0.106000	0.10890	1.301000	0.44836	0.549000	0.68633	CGC	TRIM10	-	smart_Znf_B-box,pfscan_Znf_B-box		0.572	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	C			30128238	-1	no_errors	ENST00000449742	ensembl	human	known	70_37	missense	SNP	0.001	T	T	30128238	C	T	30128238	3	4	135	1	0	0	0	0	1	0	0	0	16517	768	27	2	1163	2	TRIM10	6	30128238	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	1156882	30128238	140986829	21	22488										
PM20D2	135293	genome.wustl.edu	37	chr6	89871595	89871596	+	Frame_Shift_Ins	INS	-	-	TACT													0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttgaatcatactgaacagtaINScactgaagctgctggtaagt							TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:89871595_89871596insTACT	ENST00000275072.4	+	6	1237_1238	c.1142_1143insTACT	c.(1141-1146)tacactfs	p.-382fs		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2							extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ACTGAACAGTACACTGAAGCTG	0.396																																																	0																																										SO:0001589	frameshift_variant	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	Exception_encountered	6.37:g.89871595_89871596insTACT	ENSP00000275072:p.Thr382fs		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Frame_Shift_Ins	INS	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.E383fs	ENST00000275072.4	37	c.1142_1143	CCDS34499.1	6																																																																																			PM20D2	-	pirsf_Pept_M20D_amidohydro_pred		0.396	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	-	NM_001010853		89871596	1	no_errors	ENST00000275072	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.993	TACT	TACT	89871596	-	TACT	89871595	7	5	135	1	0	1	1	0	0	0	0	0	12153	391	14	0	1164	0	PM20D2	6	89871595	Frame_Shift_Ins	INS	-	TCGA-FU-A3WB-01A-11D-A22X-09	59743357	89871595	81243472	22	22489										
SFRS18	25957	genome.wustl.edu	37	chr6	99849006	99849006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tctctctcgggaaggactccGatttcgtcgtctttctcttt	8	12	4	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:99849006G>A	ENST00000369239.5	-	12	2032	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	PNISR_ENST00000438806.1_Missense_Mutation_p.R610W	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	610						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAAGGACTCCGATTTCGTCGT	0.433																																																	0													109	98	102					6																	99849006		2203	4300	6503	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1828C>T	6.37:g.99849006G>A	ENSP00000358242:p.Arg610Trp		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.R610W	ENST00000369239.5	37	c.1828	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980537	0.53827	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.49	3.61	0.41365	.	0.163889	0.53938	D	0.000051	T	0.24392	0.0591	N	0.17082	0.46	0.54753	D	0.999987	B	0.18310	0.027	B	0.12837	0.008	T	0.22487	-1.0215	9	0.66056	D	0.02	.	8.5578	0.33492	0.0737:0.0:0.6677:0.2586	.	610	Q8TF01	PNISR_HUMAN	W	610	.	ENSP00000358242:R610W	R	-	1	2	PNISR	99955727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.795000	0.55499	2.750000	0.94351	0.579000	0.79373	CGG	PNISR	-	NULL		0.433	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	G	NM_032870		99849006	-1	no_errors	ENST00000369239	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99849006	G	A	99849006	3	1	135	1	0	0	0	0	1	0	0	0	14204	1057	37	1	593	1	SFRS18	6	99849006	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	9977411	99849006	71266061	23	22490										
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111913050	111913050	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acttgagtgcgcaggcaggtGacctgccgggatacaggccg	16	11	0	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:111913050G>C	ENST00000340026.6	-	3	861	c.267C>G	c.(265-267)gtC>gtG	p.V89V	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.V80V|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000368761.5_Silent_p.V80V			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	89	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCAGGCAGGTGACCTGCCGGG	0.547																																																	0													76	78	77					6																	111913050		2203	4300	6503	SO:0001819	synonymous_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.267C>G	6.37:g.111913050G>C			B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	pfam_SEFIR	p.V89	ENST00000340026.6	37	c.267		6																																																																																			TRAF3IP2	-	NULL		0.547	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	G			111913050	-1	no_errors	ENST00000340026	ensembl	human	known	70_37	silent	SNP	0.991	C	C	111913050	G	C	111913050	2	2	135	1	0	0	0	0	0	0	0	1	16472	1277	45	1		1	TRAF3IP2	6	111913050	Silent	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	12064044	111913050	59202017	24	22491										
HIVEP2	3097	genome.wustl.edu	37	chr6	143074250	143074250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ccatgcatcatagatcaatgTagctgactcttttctgatga	7	9	4	4			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr6:143074250T>C	ENST00000367604.1	-	9	7974	c.7335A>G	c.(7333-7335)ctA>ctG	p.L2445L	HIVEP2_ENST00000367603.2_Silent_p.L2445L|HIVEP2_ENST00000012134.2_Silent_p.L2445L|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGATCAATGTAGCTGACTCT	0.383																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													175	166	169					6																	143074250		1939	4159	6098	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7335A>G	6.37:g.143074250T>C			Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L2445	ENST00000367604.1	37	c.7335	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.383	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	T			143074250	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	0.978	C	C	143074250	T	C	143074250	2	2	135	1	0	0	0	0	0	0	0	1	7207	1625	57	5		5	HIVEP2	6	143074250	Silent	SNP	T	TCGA-FU-A3WB-01A-11D-A22X-09	31161200	143074250	28040817	25	22492										
FERD3L	222894	genome.wustl.edu	37	chr7	19184752	19184752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cctcttccgcgctcctcttcCtcctcctcttctccgtcccc	3	24	4	0	rs73079402		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr7:19184752C>T	ENST00000275461.3	-	1	292	c.234G>A	c.(232-234)gaG>gaA	p.E78E	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	78	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						gctcctcttcctcctcctctt	0.627																																																	0													71	51	58					7																	19184752		2203	4300	6503	SO:0001819	synonymous_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.234G>A	7.37:g.19184752C>T			Q495K0	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E78	ENST00000275461.3	37	c.234	CCDS5368.1	7																																																																																			FERD3L	-	NULL		0.627	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	C			19184752	-1	no_errors	ENST00000275461	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19184752	C	T	19184752	2	4	135	1	0	0	0	0	0	0	0	1	5834	680	24	4		4	FERD3L	7	19184752	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		19184752	139953911	26	22493										
HECW1	23072	genome.wustl.edu	37	chr7	43508528	43508528	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acctgtctcagagtgcctacCgagtcttcaccagtagcacc	8	15	3	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr7:43508528C>T	ENST00000395891.2	+	16	3528	c.2923C>T	c.(2923-2925)Cga>Tga	p.R975*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R941*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	975					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGTGCCTACCGAGTCTTCAC	0.512																																																	0													60	58	58					7																	43508528		1997	4183	6180	SO:0001587	stop_gained	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2923C>T	7.37:g.43508528C>T	ENSP00000379228:p.Arg975*		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.R975*	ENST00000395891.2	37	c.2923	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	44	10.908193	0.99487	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.58	3.6	0.41247	.	0.114310	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9212	0.63933	0.2847:0.7153:0.0:0.0	.	.	.	.	X	975;941;975	.	ENSP00000265522:R975X	R	+	1	2	HECW1	43475053	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.748000	0.55142	1.292000	0.44672	0.484000	0.47621	CGA	HECW1	-	NULL		0.512	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43508528	1	no_errors	ENST00000395891	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	43508528	C	T	43508528	4	4	135	1	0	0	0	0	0	1	0	0	7062	644	23	2	2977	2	HECW1	7	43508528	Nonsense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	24323776	43508528	115630135	27	22494										
SLC26A4	5172	genome.wustl.edu	37	chr7	107338524	107338524	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttggaagcatccctagcacaGatatctacaaaagtaccaag	7	10	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr7:107338524G>T	ENST00000265715.3	+	14	1806	c.1582G>T	c.(1582-1584)Gat>Tat	p.D528Y	SLC26A4_ENST00000544569.1_Missense_Mutation_p.D115Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.D97Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.D89Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	528					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCCTAGCACAGATATCTACAA	0.373									Pendred syndrome																																								0													107	100	103					7																	107338524		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1582G>T	7.37:g.107338524G>T	ENSP00000265715:p.Asp528Tyr		B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.D528Y	ENST00000265715.3	37	c.1582	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789274	0.90367	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95622	-3.39;-3.7;-3.76;-3.75	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.82716	2.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.984	D	0.98164	1.0448	10	0.87932	D	0	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	89;115;528	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Y	528;89;115;97	ENSP00000265715:D528Y;ENSP00000439743:D89Y;ENSP00000437427:D115Y;ENSP00000441209:D97Y	ENSP00000265715:D528Y	D	+	1	0	SLC26A4	107125760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.850000	0.92190	2.826000	0.97356	0.655000	0.94253	GAT	SLC26A4	-	tigrfam_SulP_transpt		0.373	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	G	NM_000441		107338524	1	no_errors	ENST00000265715	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107338524	G	T	107338524	3	4	135	1	0	0	0	0	1	0	0	0	14549	942	33	3	1632	3	SLC26A4	7	107338524	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	63829996	107338524	51800139	28	22495										
SLCO5A1	81796	genome.wustl.edu	37	chr8	70744526	70744526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acatgcacaccaggaagcaaCgggaatccgtgaggaccacg	12	12	0	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr8:70744526C>T	ENST00000260126.4	-	2	1089	c.383G>A	c.(382-384)cGt>cAt	p.R128H	RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R128H|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R128H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAGGAAGCAACGGGAATCCGT	0.547											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119	111	114					8																	70744526		2203	4300	6503	SO:0001583	missense	81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.383G>A	8.37:g.70744526C>T	ENSP00000260126:p.Arg128His	1124	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R128H	ENST00000260126.4	37	c.383	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.127577	0.94473	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38401	1.14;1.14;1.14	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.49513	1.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.99;0.991;0.984	T	0.55945	-0.8060	10	0.62326	D	0.03	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	128;128;128;128	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	H	128	ENSP00000260126:R128H;ENSP00000434422:R128H;ENSP00000431611:R128H	ENSP00000260126:R128H	R	-	2	0	SLCO5A1	70907080	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.955000	0.63638	2.704000	0.92352	0.561000	0.74099	CGT	SLCO5A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.547	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	C	NM_030958		70744526	-1	no_errors	ENST00000260126	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70744526	C	T	70744526	3	4	135	1	0	0	0	0	1	0	0	0	14761	536	19	2	2199	2	SLCO5A1	8	70744526	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		70744526	75619496	29	22496										
RPL8	6132	genome.wustl.edu	37	chr8	146016665	146016665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tgctgcctgatactcaccaaCcacagctctgttggctgagg	10	13	2	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr8:146016665C>A	ENST00000262584.3	-	4	728	c.496G>T	c.(496-498)Gtt>Ttt	p.V166F	RPL8_ENST00000527914.1_Missense_Mutation_p.V57F|RPL8_ENST00000528957.1_Missense_Mutation_p.V166F|RPL8_ENST00000394920.2_Missense_Mutation_p.V166F|RPL8_ENST00000529163.1_5'UTR	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	166					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TACTCACCAACCACAGCTCTG	0.562																																																	0													65	58	60					8																	146016665		2200	4297	6497	SO:0001583	missense	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.496G>T	8.37:g.146016665C>A	ENSP00000262584:p.Val166Phe		A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2	p.V166F	ENST00000262584.3	37	c.496	CCDS6433.1	8	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995010	0.93167	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000528957;ENST00000534813;ENST00000533397;ENST00000532702	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.21	5.21	0.72293	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.93594	3.435	0.80722	D	1	D;D	0.63880	0.993;0.979	D;D	0.75484	0.986;0.931	T	0.83216	-0.0071	10	0.87932	D	0	.	16.6841	0.85300	0.0:1.0:0.0:0.0	.	166;130	P62917;E9PIZ3	RL8_HUMAN;.	F	166;57;166;166;130;145;166	ENSP00000378378:V166F;ENSP00000436460:V57F;ENSP00000262584:V166F;ENSP00000433464:V166F;ENSP00000435313:V145F;ENSP00000434535:V166F	ENSP00000262584:V166F	V	-	1	0	RPL8	145987469	1.000000	0.71417	0.967000	0.41034	0.646000	0.38490	6.610000	0.74178	2.602000	0.87976	0.558000	0.71614	GTT	RPL8	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2		0.562	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1	C	NM_000973		146016665	-1	no_errors	ENST00000262584	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146016665	C	A	146016665	3	1	135	1	0	0	0	0	1	0	0	0	13632	507	18	4	289	4	RPL8	8	146016665	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	75272139	146016665	347357	30	22497										
APBB1IP	54518	genome.wustl.edu	37	chr10	26790038	26790038	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cacctcctgaacctctctctCaggtaagtatgtgggaccag	9	13	2	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr10:26790038C>A	ENST00000376236.4	+	5	906	c.451C>A	c.(451-453)Cag>Aag	p.Q151K	APBB1IP_ENST00000356785.4_Missense_Mutation_p.Q151K	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	151					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACCTCTCTCTCAGGTAAGTAT	0.498																																																	0													150	136	141					10																	26790038		2203	4300	6503	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.451C>A	10.37:g.26790038C>A	ENSP00000365411:p.Gln151Lys		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.Q151K	ENST00000376236.4	37	c.451	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	4.117	0.019860	0.08006	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.28454	1.61	5.84	1.46	0.22682	.	0.476977	0.25994	N	0.026998	T	0.15219	0.0367	N	0.05574	-0.02	0.21740	N	0.999567	B;B;B	0.14438	0.0;0.001;0.01	B;B;B	0.09377	0.0;0.002;0.004	T	0.23119	-1.0197	10	0.87932	D	0	.	9.9821	0.41819	0.4029:0.4722:0.1249:0.0	.	151;151;151	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	K	151	ENSP00000365411:Q151K	ENSP00000349237:Q151K	Q	+	1	0	APBB1IP	26830044	1.000000	0.71417	0.960000	0.40013	0.663000	0.39108	1.332000	0.33805	0.306000	0.22856	0.563000	0.77884	CAG	APBB1IP	-	NULL		0.498	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	C	NM_019043		26790038	1	no_errors	ENST00000376236	ensembl	human	known	70_37	missense	SNP	0.996	A	A	26790038	C	A	26790038	3	1	135	1	0	0	0	0	1	0	0	0	760	827	29	3	461	3	APBB1IP	10	26790038	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		26790038	108744709	31	22498										
LRRTM3	347731	genome.wustl.edu	37	chr10	68688038	68688038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	catgaagcagctgcagcagcGctccctcatgcgaaggcaca	11	14	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr10:68688038G>A	ENST00000361320.4	+	2	1942	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	455					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTGCAGCAGCGCTCCCTCATG	0.532																																																	0													87	88	88					10																	68688038		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1364G>A	10.37:g.68688038G>A	ENSP00000355187:p.Arg455His		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R455H	ENST00000361320.4	37	c.1364	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	4.941	0.174917	0.09391	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.76839	-1.05	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.57007	0.2024	N	0.01576	-0.805	0.44323	D	0.997202	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.54193	-0.8330	10	0.36615	T	0.2	.	19.3958	0.94607	0.0:0.0:1.0:0.0	.	455;455	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	455	ENSP00000355187:R455H	ENSP00000355187:R455H	R	+	2	0	LRRTM3	68358044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.235000	0.51328	2.879000	0.98667	0.650000	0.86243	CGC	LRRTM3	-	NULL		0.532	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68688038	1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68688038	G	A	68688038	3	1	135	1	0	0	0	0	1	0	0	0	9064	1087	38	2	1370	2	LRRTM3	10	68688038	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	41898000	68688038	66846709	32	22499										
FJX1	24147	genome.wustl.edu	37	chr11	35641435	35641435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cagctgctacagcgccgcctCgacttcctcgccaagcacat	8	18	0	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:35641435C>T	ENST00000317811.4	+	1	1701	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	417					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				AGCGCCGCCTCGACTTCCTCG	0.672																																					Melanoma(161;10 2587 27165 47356)												0													7	8	8					11																	35641435		1923	4087	6010	SO:0001819	synonymous_variant	24147			AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"putative secreted ligand homologous to fjx1"	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.1251C>T	11.37:g.35641435C>T			B2RCA9|Q9UGK6	Silent	SNP	pfam_DUF1193	p.L417	ENST00000317811.4	37	c.1251	CCDS44570.1	11																																																																																			FJX1	-	pfam_DUF1193		0.672	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FJX1	HGNC	protein_coding	OTTHUMT00000389078.1	C	NM_014344		35641435	1	no_errors	ENST00000317811	ensembl	human	known	70_37	silent	SNP	0.998	T	T	35641435	C	T	35641435	2	4	135	1	0	0	0	0	0	0	0	1	5919	871	31	1		1	FJX1	11	35641435	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		35641435	99365081	33	22500										
OR5D13	390142	genome.wustl.edu	37	chr11	55540930	55540930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tatcatgatggcatctgaaaGaaatcaaagcagcacaccca	7	10	3	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:55540930G>A	ENST00000361760.1	+	1	17	c.17G>A	c.(16-18)aGa>aAa	p.R6K		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R6I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCATCTGAAAGAAATCAAAGC	0.378																																																	1	Substitution - Missense(1)	pancreas(1)											90	92	92					11																	55540930		2200	4296	6496	SO:0001583	missense	390142			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.17G>A	11.37:g.55540930G>A	ENSP00000354800:p.Arg6Lys		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R6K	ENST00000361760.1	37	c.17	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	G	2.449	-0.326786	0.05350	.	.	ENSG00000198877	ENST00000361760	T	0.00253	8.43	3.43	-0.99	0.10238	.	2.614400	0.02383	U	0.078988	T	0.00109	0.0003	N	0.17278	0.47	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27400	-1.0075	10	0.23302	T	0.38	2.0586	3.8268	0.08858	0.4124:0.0:0.4234:0.1642	.	6	Q8NGL4	OR5DD_HUMAN	K	6	ENSP00000354800:R6K	ENSP00000354800:R6K	R	+	2	0	OR5D13	55297506	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-0.391000	0.07763	-1.549000	0.00901	AGA	OR5D13	-	NULL		0.378	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	G	NM_001001967		55540930	1	no_errors	ENST00000361760	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55540930	G	A	55540930	3	1	135	1	0	0	0	0	1	0	0	0	11178	942	33	1	19	1	OR5D13	11	55540930	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	19899495	55540930	79465586	34	22501										
RASGRP2	10235	genome.wustl.edu	37	chr11	64509578	64509578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gcgggtcccgcaccttcccgGagtcatctgactccgaaggg	13	15	2	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:64509578G>A	ENST00000354024.3	-	3	332	c.80C>T	c.(79-81)tCc>tTc	p.S27F	RASGRP2_ENST00000377489.1_Missense_Mutation_p.S27F|RASGRP2_ENST00000394430.1_Missense_Mutation_p.S27F|RASGRP2_ENST00000377486.3_Missense_Mutation_p.S27F|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S27F|RASGRP2_ENST00000394432.3_Missense_Mutation_p.S27F|RASGRP2_ENST00000377494.1_Missense_Mutation_p.S27F|RASGRP2_ENST00000394428.1_Intron|RASGRP2_ENST00000377487.1_Missense_Mutation_p.S27F|RASGRP2_ENST00000394429.1_Intron	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	27	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCTTCCCGGAGTCATCTGA	0.617																																																	0													29	28	28					11																	64509578		2195	4297	6492	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.80C>T	11.37:g.64509578G>A	ENSP00000338864:p.Ser27Phe		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S27F	ENST00000354024.3	37	c.80	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245706	0.59103	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594;ENST00000377485;ENST00000430645	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.67	3.75	0.43078	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.711655	0.13120	N	0.412289	T	0.46073	0.1374	N	0.22421	0.69	0.37480	D	0.91595	D	0.53312	0.959	P	0.51974	0.686	T	0.34850	-0.9812	10	0.26408	T	0.33	-4.9418	8.5012	0.33159	0.0:0.1689:0.6567:0.1744	.	27	Q7LDG7	GRP2_HUMAN	F	27	ENSP00000366714:S27F;ENSP00000377953:S27F;ENSP00000366717:S27F;ENSP00000338864:S27F;ENSP00000399114:S27F;ENSP00000366706:S27F;ENSP00000366707:S27F;ENSP00000366709:S27F;ENSP00000377951:S27F;ENSP00000366705:S27F;ENSP00000401314:S27F	ENSP00000338864:S27F	S	-	2	0	RASGRP2	64266154	0.575000	0.26692	1.000000	0.80357	0.833000	0.47200	0.765000	0.26546	1.268000	0.44264	0.313000	0.20887	TCC	RASGRP2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.617	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	G	NM_153819		64509578	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	0.986	A	A	64509578	G	A	64509578	3	1	135	1	0	0	0	0	1	0	0	0	13105	1174	41	1	1805	1	RASGRP2	11	64509578	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	8968648	64509578	70496938	35	22502										
SERPINH1	871	genome.wustl.edu	37	chr11	75278009	75278009	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ctgctagtcaacgccatgttCttcaagcgtgagtcgggggc	13	11	3	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:75278009C>T	ENST00000524558.1	+	2	2050	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SERPINH1_ENST00000530284.1_Silent_p.F205F|SERPINH1_ENST00000533603.1_Silent_p.F205F|SERPINH1_ENST00000358171.3_Silent_p.F205F|SERPINH1_ENST00000525876.1_5'Flank			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	205					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ACGCCATGTTCTTCAAGCGTG	0.647																																																	0													24	24	24					11																	75278009		2193	4272	6465	SO:0001819	synonymous_variant	871			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.615C>T	11.37:g.75278009C>T			B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F205	ENST00000524558.1	37	c.615	CCDS8239.1	11																																																																																			SERPINH1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.647	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINH1	HGNC	protein_coding	OTTHUMT00000383610.1	C	NM_004353		75278009	1	no_errors	ENST00000358171	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75278009	C	T	75278009	2	4	135	1	0	0	0	0	0	0	0	1	14147	912	32	1		1	SERPINH1	11	75278009	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	10768431	75278009	59728507	36	22503										
KIAA1377	57562	genome.wustl.edu	37	chr11	101833080	101833080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gctacatttccagaccaagaGaaatattctgaattaaatca	5	8	2	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:101833080G>C	ENST00000263468.8	+	6	1584	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	438										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGACCAAGAGAAATATTCTG	0.378																																																	0													54	59	57					11																	101833080		2200	4297	6497	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1314G>C	11.37:g.101833080G>C	ENSP00000263468:p.Glu438Asp		Q4G0U6	Missense_Mutation	SNP	NULL	p.E438D	ENST00000263468.8	37	c.1314	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668931	0.14776	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08896	3.04;3.04	5.05	2.15	0.27550	.	0.604283	0.16408	N	0.215705	T	0.08670	0.0215	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.32724	0.151	T	0.22417	-1.0217	10	0.42905	T	0.14	-0.4885	5.3188	0.15870	0.2443:0.0:0.6029:0.1528	.	438	Q9P2H0	K1377_HUMAN	D	438;239	ENSP00000263468:E438D;ENSP00000443184:E239D	ENSP00000263468:E438D	E	+	3	2	KIAA1377	101338290	0.011000	0.17503	0.325000	0.25375	0.909000	0.53808	0.058000	0.14301	0.636000	0.30508	-0.137000	0.14449	GAG	KIAA1377	-	NULL		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	G	NM_020802		101833080	1	no_errors	ENST00000263468	ensembl	human	known	70_37	missense	SNP	0.063	C	C	101833080	G	C	101833080	3	2	135	1	0	0	0	0	1	0	0	0	8247	933	33	1	1336	1	KIAA1377	11	101833080	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	26555071	101833080	33173436	37	22504			1	98		4	4	1466	G		6.562884e-09
KIAA1377	57562	genome.wustl.edu	37	chr11	101833184	101833184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	atctaatatacagtcagctaGaccttcagcaaagaacagta	6	9	3	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:101833184G>C	ENST00000263468.8	+	6	1688	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	KIAA1377_ENST00000537689.1_Missense_Mutation_p.R274T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	473										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGTCAGCTAGACCTTCAGCA	0.338																																																	0													53	54	54					11																	101833184		2203	4296	6499	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1418G>C	11.37:g.101833184G>C	ENSP00000263468:p.Arg473Thr		Q4G0U6	Missense_Mutation	SNP	NULL	p.R473T	ENST00000263468.8	37	c.1418	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719261	0.15372	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08008	3.14;3.14	4.53	4.53	0.55603	.	0.395245	0.24592	N	0.037219	T	0.10766	0.0263	L	0.57536	1.79	0.09310	N	1	P	0.46784	0.884	B	0.43508	0.422	T	0.18587	-1.0332	10	0.30078	T	0.28	-5.1736	10.0299	0.42094	0.094:0.0:0.906:0.0	.	473	Q9P2H0	K1377_HUMAN	T	473;274	ENSP00000263468:R473T;ENSP00000443184:R274T	ENSP00000263468:R473T	R	+	2	0	KIAA1377	101338394	0.637000	0.27216	0.289000	0.24876	0.618000	0.37518	1.534000	0.36051	2.483000	0.83821	0.655000	0.94253	AGA	KIAA1377	-	NULL		0.338	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	G	NM_020802		101833184	1	no_errors	ENST00000263468	ensembl	human	known	70_37	missense	SNP	0.039	C	C	101833184	G	C	101833184	3	2	135	1	0	0	0	0	1	0	0	0	8247	942	33	1	1440	1	KIAA1377	11	101833184	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	104	101833184	33173332	38	22505			1	98		4	4	1466	G		6.562884e-09
KIAA1377	57562	genome.wustl.edu	37	chr11	101833426	101833426	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ctaatgtaacttctaattatGactttgttggccagcataag	7	7	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:101833426G>A	ENST00000263468.8	+	6	1930	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	KIAA1377_ENST00000537689.1_Missense_Mutation_p.D355N	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	554										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCTAATTATGACTTTGTTGG	0.299																																																	0													38	41	40					11																	101833426		2201	4285	6486	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1660G>A	11.37:g.101833426G>A	ENSP00000263468:p.Asp554Asn		Q4G0U6	Missense_Mutation	SNP	NULL	p.D554N	ENST00000263468.8	37	c.1660	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238129	0.58886	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.14391	2.51;2.51	5.29	5.29	0.74685	.	0.079937	0.53938	D	0.000057	T	0.35970	0.0950	M	0.73598	2.24	0.32502	N	0.538724	D	0.89917	1.0	D	0.81914	0.995	T	0.46119	-0.9214	10	0.54805	T	0.06	-16.0811	12.6345	0.56675	0.076:0.0:0.924:0.0	.	554	Q9P2H0	K1377_HUMAN	N	554;355	ENSP00000263468:D554N;ENSP00000443184:D355N	ENSP00000263468:D554N	D	+	1	0	KIAA1377	101338636	0.999000	0.42202	0.962000	0.40283	0.608000	0.37181	2.384000	0.44362	2.628000	0.89032	0.655000	0.94253	GAC	KIAA1377	-	NULL		0.299	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	G	NM_020802		101833426	1	no_errors	ENST00000263468	ensembl	human	known	70_37	missense	SNP	0.991	A	A	101833426	G	A	101833426	3	1	135	1	0	0	0	0	1	0	0	0	8247	1290	45	1	1682	1	KIAA1377	11	101833426	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	242	101833426	33173090	39	22506			1	98		4	4	1466	G		6.562884e-09
KIAA1377	57562	genome.wustl.edu	37	chr11	101834545	101834545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ctgtgactctaagaactgctGaagaagaatcagttccctta	8	9	2	5			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:101834545G>A	ENST00000263468.8	+	6	3049	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E728K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	927										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGAACTGCTGAAGAAGAATC	0.393																																																	0													81	88	86					11																	101834545		2203	4299	6502	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2779G>A	11.37:g.101834545G>A	ENSP00000263468:p.Glu927Lys		Q4G0U6	Missense_Mutation	SNP	NULL	p.E927K	ENST00000263468.8	37	c.2779	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	7.915	0.737346	0.15574	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07444	3.19;3.19	5.76	1.56	0.23342	.	1.079280	0.07138	N	0.846750	T	0.05090	0.0136	N	0.17474	0.49	0.09310	N	0.999998	B	0.09022	0.002	B	0.11329	0.006	T	0.47923	-0.9079	10	0.15066	T	0.55	-0.2796	5.051	0.14508	0.2761:0.1518:0.5721:0.0	.	927	Q9P2H0	K1377_HUMAN	K	927;728	ENSP00000263468:E927K;ENSP00000443184:E728K	ENSP00000263468:E927K	E	+	1	0	KIAA1377	101339755	0.998000	0.40836	0.013000	0.15412	0.056000	0.15407	1.220000	0.32491	0.073000	0.16731	0.643000	0.83706	GAA	KIAA1377	-	NULL		0.393	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	G	NM_020802		101834545	1	no_errors	ENST00000263468	ensembl	human	known	70_37	missense	SNP	0.303	A	A	101834545	G	A	101834545	3	1	135	1	0	0	0	0	1	0	0	0	8247	1291	45	1	2801	1	KIAA1377	11	101834545	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	1119	101834545	33171971	40	22507			1	98		4	4	1466	G		6.562884e-09
ZBTB16	7704	genome.wustl.edu	37	chr11	114113003	114113003	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cagctacatctgcagtgagtGcaaccgcaccttccccagcc	8	17	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr11:114113003G>C	ENST00000335953.4	+	5	1948	c.1568G>C	c.(1567-1569)tGc>tCc	p.C523S	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.C523S	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	523					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGCAGTGAGTGCAACCGCACC	0.627																																																	0													59	47	51					11																	114113003		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1568G>C	11.37:g.114113003G>C	ENSP00000338157:p.Cys523Ser		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C523S	ENST00000335953.4	37	c.1568	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.167054	0.94768	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.39787	1.06;1.06	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	H	0.98111	4.15	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.86612	0.1873	10	0.87932	D	0	-12.1385	20.0965	0.97849	0.0:0.0:1.0:0.0	.	523	Q05516	ZBT16_HUMAN	S	523;523;400	ENSP00000338157:C523S;ENSP00000376721:C523S	ENSP00000309507:C400S	C	+	2	0	ZBTB16	113618213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.762000	0.98944	2.824000	0.97209	0.655000	0.94253	TGC	ZBTB16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		114113003	1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114113003	G	C	114113003	3	2	135	1	0	0	0	0	1	0	0	0	17556	1319	46	4	1582	4	ZBTB16	11	114113003	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	12278458	114113003	20893513	41	22508										
WNK1	65125	genome.wustl.edu	37	chr12	977110	977110	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttttcccaactattcatgaaCgtccagtttctttttcacca	3	12	3	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr12:977110C>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.R740C|WNK1_ENST00000530271.2_Missense_Mutation_p.R825C|WNK1_ENST00000574564.1_Missense_Mutation_p.R39C|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TATTCATGAACGTCCAGTTTC	0.507																																					Colon(19;451 567 6672 12618 28860)												0													82	85	84					12																	977110		1925	4128	6053	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3321C>T	12.37:g.977110C>T			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R825C	ENST00000315939.6	37	c.2473	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031737	0.54790	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.16196	2.36;2.36	5.8	5.8	0.92144	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07158	-1.0787	8	0.38643	T	0.18	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	825	F5H2M7	.	C	740;825	ENSP00000444465:R740C;ENSP00000433548:R825C	ENSP00000433548:R825C	R	+	1	0	WNK1	847371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.446000	0.60014	2.737000	0.93849	0.563000	0.77884	CGT	WNK1	-	NULL		0.507	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		977110	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	T	T	977110	C	T	977110	1	4	135	0	1	0	0	0	0	0	0	0	17408	536	19	2		2	WNK1	12	977110	Intron	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		977110	132874785	42	22509										
KRT6A	3853	genome.wustl.edu	37	chr12	52883813	52883813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ctgcttggtgttgcgcaggtCgtccccatgtctgcctgctg	13	13	1	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr12:52883813C>A	ENST00000330722.6	-	6	1185	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	373	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCGCAGGTCGTCCCCATGT	0.567																																																	0													104	83	90					12																	52883813		2202	4278	6480	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1117G>T	12.37:g.52883813C>A	ENSP00000369317:p.Asp373Tyr		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.D373Y	ENST00000330722.6	37	c.1117	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	26.0	4.694489	0.88830	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.77750	-1.12	5.3	5.3	0.74995	Filament (1);	0.000000	0.64402	D	0.000005	D	0.88753	0.6522	M	0.94021	3.485	0.53005	D	0.999969	P	0.45902	0.868	P	0.55923	0.787	D	0.90833	0.4718	10	0.87932	D	0	.	12.6686	0.56855	0.0:0.924:0.0:0.0759	.	373	P02538	K2C6A_HUMAN	Y	373;329	ENSP00000369317:D373Y	ENSP00000369317:D373Y	D	-	1	0	KRT6A	51170080	0.984000	0.35163	0.992000	0.48379	0.982000	0.71751	2.668000	0.46816	2.659000	0.90383	0.561000	0.74099	GAC	KRT6A	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.567	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	C	NM_005554		52883813	-1	no_errors	ENST00000330722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52883813	C	A	52883813	3	1	135	1	0	0	0	0	1	0	0	0	8500	884	31	3	593	3	KRT6A	12	52883813	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	51906703	52883813	80968082	43	22510										
PFDN5	5204	genome.wustl.edu	37	chr12	53689722	53689722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acgtgctgaacaagagcaacGagggtatggggtaggcgggt	18	6	0	2	rs201325659		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr12:53689722G>A	ENST00000551018.1	+	2	449	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PFDN5_ENST00000550846.1_Intron|PFDN5_ENST00000351500.3_Intron|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Missense_Mutation_p.E58K	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	58					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CAAGAGCAACGAGGGTATGGG	0.512																																																	0													95	76	82					12																	53689722		2203	4300	6503	SO:0001583	missense	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.172G>A	12.37:g.53689722G>A	ENSP00000447942:p.Glu58Lys		A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,tigrfam_PFD_alpha	p.E58K	ENST00000551018.1	37	c.172	CCDS8853.1	12	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422273	0.62622	.	.	ENSG00000123349	ENST00000551018;ENST00000334478	T;T	0.47869	0.83;0.83	5.73	4.83	0.62350	Prefoldin (1);Prefoldin subunit (1);	0.049153	0.85682	D	0.000000	T	0.30262	0.0759	N	0.12611	0.24	0.58432	D	0.999998	B	0.22211	0.066	B	0.17098	0.017	T	0.14090	-1.0485	10	0.87932	D	0	.	12.1111	0.53840	0.0825:0.0:0.9175:0.0	.	58	Q99471	PFD5_HUMAN	K	58	ENSP00000447942:E58K;ENSP00000334188:E58K	ENSP00000243040:E58K	E	+	1	0	PFDN5	51975989	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.590000	0.67530	2.882000	0.98803	0.655000	0.94253	GAG	PFDN5	-	pfam_Prefoldin_subunit,superfamily_Prefoldin,tigrfam_PFD_alpha		0.512	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	G			53689722	1	no_errors	ENST00000551018	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53689722	G	A	53689722	3	1	135	1	0	0	0	0	1	0	0	0	11782	1059	37	1	178	1	PFDN5	12	53689722	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	805909	53689722	80162173	44	22511										
GPC5	2262	genome.wustl.edu	37	chr13	92797125	92797125	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aacctgacaagtgggaacttCttcagctgggcagtggtgga	14	8	2	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr13:92797125C>T	ENST00000377067.3	+	7	1816	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	482					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGGGAACTTCTTCAGCTGGG	0.443																																																	0													164	151	155					13																	92797125		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1444C>T	13.37:g.92797125C>T	ENSP00000366267:p.Leu482Phe		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.L482F	ENST00000377067.3	37	c.1444	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317400	0.23908	.	.	ENSG00000179399	ENST00000377067	T	0.44881	0.91	5.67	4.82	0.62117	.	0.550760	0.18482	N	0.139881	T	0.25644	0.0624	N	0.19112	0.55	0.19575	N	0.999965	B	0.15473	0.013	B	0.17433	0.018	T	0.11817	-1.0572	10	0.09590	T	0.72	-0.4669	11.4206	0.49978	0.0:0.9174:0.0:0.0826	.	482	P78333	GPC5_HUMAN	F	482	ENSP00000366267:L482F	ENSP00000366267:L482F	L	+	1	0	GPC5	91595126	0.000000	0.05858	0.274000	0.24659	0.814000	0.46013	0.704000	0.25661	2.673000	0.90976	0.557000	0.71058	CTT	GPC5	-	pfam_Glypican		0.443	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	C	NM_004466		92797125	1	no_errors	ENST00000377067	ensembl	human	known	70_37	missense	SNP	0.297	T	T	92797125	C	T	92797125	3	4	135	1	0	0	0	0	1	0	0	0	6620	913	32	1	1470	1	GPC5	13	92797125	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		92797125	22372753	45	22512										
OR4N2	390429	genome.wustl.edu	37	chr14	20295947	20295947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttggaggaggggagggattaCtccttgttgtgatggccttt	16	5	0	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr14:20295947C>A	ENST00000315947.1	+	1	340	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	OR4N2_ENST00000568211.1_Missense_Mutation_p.L114I	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAGGGATTACTCCTTGTTGT	0.507																																																	0													122	133	129					14																	20295947		2203	4297	6500	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.340C>A	14.37:g.20295947C>A	ENSP00000319601:p.Leu114Ile		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L114I	ENST00000315947.1	37	c.340	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	15.05	2.717734	0.48622	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00585	6.39;6.39	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000465	T	0.01029	0.0034	L	0.39245	1.2	0.09310	N	0.999998	D	0.59357	0.985	P	0.53518	0.728	T	0.59289	-0.7482	10	0.41790	T	0.15	-19.7039	10.893	0.47006	0.0:0.8091:0.1909:0.0	.	114	Q8NGD1	OR4N2_HUMAN	I	114	ENSP00000452022:L114I;ENSP00000319601:L114I	ENSP00000319601:L114I	L	+	1	0	OR4N2	19365787	0.000000	0.05858	0.153000	0.22517	0.927000	0.56198	-0.480000	0.06559	2.488000	0.83962	0.591000	0.81541	CTC	OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	C			20295947	1	no_errors	ENST00000315947	ensembl	human	known	70_37	missense	SNP	0.290	A	A	20295947	C	A	20295947	3	1	135	1	0	0	0	0	1	0	0	0	11101	565	20	4	342	4	OR4N2	14	20295947	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		20295947	87053593	46	22513										
RTL1	388015	genome.wustl.edu	37	chr14	101348185	101348185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttgttctggcagctccatgaCgtcaaagttgaagtgggaga	13	7	2	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr14:101348185C>T	ENST00000534062.1	-	1	2999	c.2941G>A	c.(2941-2943)Gtc>Atc	p.V981I	MIR127_ENST00000384876.1_RNA|MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	981					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGCTCCATGACGTCAAAGTTG	0.562																																																	0													74	77	76					14																	101348185		1568	3582	5150	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2941G>A	14.37:g.101348185C>T	ENSP00000435342:p.Val981Ile		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.V981I	ENST00000534062.1	37	c.2941	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	5.188	0.220181	0.09863	.	.	ENSG00000254656	ENST00000534062	T	0.37411	1.2	3.39	1.58	0.23477	.	0.000000	0.31495	N	0.007546	T	0.18087	0.0434	L	0.29908	0.895	0.20307	N	0.999914	B	0.15719	0.014	B	0.08055	0.003	T	0.27088	-1.0084	10	0.06236	T	0.91	.	5.4796	0.16717	0.0:0.6408:0.0:0.3592	.	981	E9PKS8	.	I	981	ENSP00000435342:V981I	ENSP00000435342:V981I	V	-	1	0	RTL1	100417938	0.097000	0.21791	0.518000	0.27811	0.522000	0.34438	0.177000	0.16801	0.455000	0.26910	-0.263000	0.10527	GTC	RTL1	-	NULL		0.562	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101348185	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.414	T	T	101348185	C	T	101348185	3	4	135	1	0	0	0	0	1	0	0	0	13754	536	19	2	1139	2	RTL1	14	101348185	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	81052238	101348185	6001355	47	22514										
C14orf73	91828	genome.wustl.edu	37	chr14	103566619	103566619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	agtcccaaggaggctgaggaGccacagactccagctcaggg	14	12	1	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr14:103566619G>A	ENST00000380069.3	+	1	139	c.63G>A	c.(61-63)gaG>gaA	p.E21E	RP11-736N17.8_ENST00000559843.1_RNA	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	21					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AGGCTGAGGAGCCACAGACTC	0.647																																																	0													20	21	21					14																	103566619		2202	4294	6496	SO:0001819	synonymous_variant	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.63G>A	14.37:g.103566619G>A			Q14CR2	Silent	SNP	pfam_Sec6	p.E21	ENST00000380069.3	37	c.63	CCDS32163.1	14																																																																																			EXOC3L4	-	NULL		0.647	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1	G	XM_941093		103566619	1	no_errors	ENST00000380069	ensembl	human	known	70_37	silent	SNP	0.000	A	A	103566619	G	A	103566619	2	1	135	1	0	0	0	0	0	0	0	1	1783	962	34	4		4	C14orf73	14	103566619	Silent	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	2218434	103566619	3782921	48	22515										
MAGEL2	54551	genome.wustl.edu	37	chr15	23890312	23890312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ggcagttgcctggggggcagCtgctgtagccatcaggaagg	18	9	1	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr15:23890312C>A	ENST00000532292.1	-	1	863	c.769G>T	c.(769-771)Gct>Tct	p.A257S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	140					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGGGGCAGCTGCTGTAGCC	0.627																																																	0													39	47	45					15																	23890312		2145	4268	6413	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.769G>T	15.37:g.23890312C>A	ENSP00000433433:p.Ala257Ser			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A257S	ENST00000532292.1	37	c.769		15	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077037	0.36662	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	T	0.32912	0.0845	N	0.24115	0.695	0.21020	N	0.999804	.	.	.	.	.	.	T	0.12915	-1.0529	5	.	.	.	.	10.3959	0.44201	0.0:0.8016:0.1984:0.0	.	.	.	.	H	288	.	.	Q	-	3	2	MAGEL2	21441405	0.001000	0.12720	0.486000	0.27416	0.955000	0.61496	-0.179000	0.09768	2.625000	0.88918	0.650000	0.86243	CAG	MAGEL2	-	NULL		0.627	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23890312	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.577	A	A	23890312	C	A	23890312	3	1	135	1	0	0	0	0	1	0	0	0	9212	797	28	4	1175	4	MAGEL2	15	23890312	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		23890312	78641080	49	22516										
KIAA0101	9768	genome.wustl.edu	37	chr15	64669005	64669005	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gaatctgattctctttttcaGaatctttaggggacaaccta	7	8	4	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr15:64669005G>C	ENST00000300035.4	-	3	365	c.227C>G	c.(226-228)tCt>tGt	p.S76C	KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.S49C|KIAA0101_ENST00000558008.1_Missense_Mutation_p.S76C	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	76					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CTCTTTTTCAGAATCTTTAGG	0.393																																																	0													44	47	46					15																	64669005		2203	4300	6503	SO:0001583	missense	9768			D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.227C>G	15.37:g.64669005G>C	ENSP00000300035:p.Ser76Cys		A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	NULL	p.S76C	ENST00000300035.4	37	c.227	CCDS10193.1	15	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238453	0.58886	.	.	ENSG00000166803	ENST00000300035	T	0.52526	0.66	5.69	3.82	0.43975	.	0.582167	0.18874	N	0.128752	T	0.52354	0.1729	L	0.57536	1.79	0.80722	D	1	D	0.53885	0.963	P	0.50378	0.639	T	0.52177	-0.8610	10	0.56958	D	0.05	-28.8607	11.1409	0.48402	0.152:0.0:0.848:0.0	.	76	Q15004	PAF_HUMAN	C	76	ENSP00000300035:S76C	ENSP00000300035:S76C	S	-	2	0	KIAA0101	62456058	1.000000	0.71417	0.886000	0.34754	0.903000	0.53119	4.563000	0.60823	0.762000	0.33152	-0.237000	0.12165	TCT	KIAA0101	-	NULL		0.393	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0101	HGNC	protein_coding	OTTHUMT00000256603.1	G	NM_014736		64669005	-1	no_errors	ENST00000300035	ensembl	human	known	70_37	missense	SNP	0.705	C	C	64669005	G	C	64669005	3	2	135	1	0	0	0	0	1	0	0	0	8175	942	33	1	141	1	KIAA0101	15	64669005	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	40778693	64669005	37862387	50	22517										
ARMC5	79798	genome.wustl.edu	37	chr16	31476046	31476046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cgcccagcccacgtgcactgCgcattctgtcacgcctcacc	8	20	3	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr16:31476046C>T	ENST00000563544.1	+	5	2248	c.1702C>T	c.(1702-1704)Cgc>Tgc	p.R568C	ARMC5_ENST00000412665.2_Missense_Mutation_p.R212C|ARMC5_ENST00000538189.1_Missense_Mutation_p.R600C|ARMC5_ENST00000268314.4_Missense_Mutation_p.R568C|ARMC5_ENST00000457010.2_Missense_Mutation_p.R568C|ARMC5_ENST00000408912.3_Missense_Mutation_p.R663C			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	568										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACGTGCACTGCGCATTCTGTC	0.721																																																	0													13	15	15					16																	31476046		2133	4238	6371	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1702C>T	16.37:g.31476046C>T	ENSP00000456877:p.Arg568Cys		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.R663C	ENST00000563544.1	37	c.1987	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341428	0.41498	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.97	3.94	0.45596	Armadillo-like helical (1);Armadillo-type fold (1);	0.106718	0.64402	D	0.000007	T	0.23171	0.0560	L	0.38175	1.15	0.51012	D	0.999908	D;D;D;P;P	0.54397	0.966;0.966;0.966;0.869;0.869	P;B;B;B;B	0.46825	0.528;0.378;0.378;0.378;0.259	T	0.00436	-1.1740	10	0.59425	D	0.04	-16.6216	8.8273	0.35063	0.1517:0.7694:0.0:0.079	.	600;600;663;568;568	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	C	663;600;568;568;212	ENSP00000386125:R663C;ENSP00000443995:R600C;ENSP00000268314:R568C;ENSP00000399561:R568C;ENSP00000400183:R212C	ENSP00000268314:R568C	R	+	1	0	ARMC5	31383547	0.996000	0.38824	0.969000	0.41365	0.088000	0.18126	3.028000	0.49705	2.837000	0.97791	0.655000	0.94253	CGC	ARMC5	-	superfamily_ARM-type_fold		0.721	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	C	NM_024742		31476046	1	no_errors	ENST00000408912	ensembl	human	known	70_37	missense	SNP	0.984	T	T	31476046	C	T	31476046	3	4	135	1	0	0	0	0	1	0	0	0	955	768	27	2	1716	2	ARMC5	16	31476046	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		31476046	58878707	51	22518										
MMP15	4324	genome.wustl.edu	37	chr16	58072243	58072243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aagccaacctgcggcggcgtCggaagcgctacgccctcacc	12	17	1	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr16:58072243C>T	ENST00000219271.3	+	3	1170	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	129					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GCGGCGGCGTCGGAAGCGCTA	0.652																																																	0													101	95	97					16																	58072243		2198	4300	6498	SO:0001583	missense	4324			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.385C>T	16.37:g.58072243C>T	ENSP00000219271:p.Arg129Trp		A0A2U6|Q14111	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R129W	ENST00000219271.3	37	c.385	CCDS10792.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026879	0.75390	.	.	ENSG00000102996	ENST00000219271	T	0.18016	2.24	4.22	3.19	0.36642	Metallopeptidase, catalytic domain (1);	0.000000	0.30969	N	0.008518	T	0.42988	0.1227	M	0.87180	2.865	0.28993	N	0.887932	D	0.89917	1.0	D	0.71184	0.972	T	0.38134	-0.9675	10	0.87932	D	0	.	11.0622	0.47955	0.3011:0.6989:0.0:0.0	.	129	P51511	MMP15_HUMAN	W	129	ENSP00000219271:R129W	ENSP00000219271:R129W	R	+	1	2	MMP15	56629744	0.107000	0.21998	1.000000	0.80357	0.944000	0.59088	-0.016000	0.12613	2.096000	0.63516	0.462000	0.41574	CGG	MMP15	-	pirsf_Pept_M10A_matrix_strom		0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1	C	NM_002428		58072243	1	no_errors	ENST00000219271	ensembl	human	known	70_37	missense	SNP	0.999	T	T	58072243	C	T	58072243	3	4	135	1	0	0	0	0	1	0	0	0	9677	875	31	1	395	1	MMP15	16	58072243	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	26596197	58072243	32282510	52	22519										
SNAI3	333929	genome.wustl.edu	37	chr16	88744885	88744885	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cgggcagcagccagactcctCatgccgcgccaggagggaca	14	15	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr16:88744885C>T	ENST00000332281.5	-	3	936	c.850G>A	c.(850-852)Gag>Aag	p.E284K	SNAI3-AS1_ENST00000568633.1_RNA|SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	284					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CCAGACTCCTCATGCCGCGCC	0.677																																					Colon(27;366 710 19748 23199 27567)												0													38	34	35					16																	88744885		2198	4299	6497	SO:0001583	missense	333929			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.850G>A	16.37:g.88744885C>T	ENSP00000327968:p.Glu284Lys		Q86SU5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E284K	ENST00000332281.5	37	c.850	CCDS32505.1	16	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950682	0.34377	.	.	ENSG00000185669	ENST00000332281	T	0.50277	0.75	5.09	-0.386	0.12466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.753768	0.12300	N	0.481233	T	0.23094	0.0558	N	0.11131	0.1	0.30139	N	0.804106	B	0.21071	0.051	B	0.17433	0.018	T	0.20042	-1.0287	10	0.27785	T	0.31	-5.8833	5.6499	0.17610	0.0:0.4586:0.2446:0.2969	.	284	Q3KNW1	SNAI3_HUMAN	K	284	ENSP00000327968:E284K	ENSP00000327968:E284K	E	-	1	0	SNAI3	87272386	0.511000	0.26179	0.000000	0.03702	0.072000	0.16883	0.684000	0.25364	0.012000	0.14892	0.561000	0.74099	GAG	SNAI3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI3	HGNC	protein_coding	OTTHUMT00000422582.1	C			88744885	-1	no_errors	ENST00000332281	ensembl	human	known	70_37	missense	SNP	0.514	T	T	88744885	C	T	88744885	3	4	135	1	0	0	0	0	1	0	0	0	14858	835	29	1	32	1	SNAI3	16	88744885	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	30672642	88744885	1609868	53	22520										
SMCHD1	23347	genome.wustl.edu	37	chr18	2656258	2656258	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gatttcgcgcgtgtgtgtgtCaggtacgcgaaggggcgagg	19	7	1	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr18:2656258C>T	ENST00000320876.6	+	1	522	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q62*|CBX3P2_ENST00000579647.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	62					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTGTGTGTGTCAGGTACGCGA	0.612																																																	0													26	33	31					18																	2656258		1994	4163	6157	SO:0001587	stop_gained	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.184C>T	18.37:g.2656258C>T	ENSP00000326603:p.Gln62*		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.Q62*	ENST00000320876.6	37	c.184	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.052201	0.97236	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	4.24	4.24	0.50183	.	0.099710	0.41097	D	0.000947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	12.4789	0.55831	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000261598:Q62X	Q	+	1	0	SMCHD1	2646258	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	2.000000	0.40816	2.081000	0.62600	0.561000	0.74099	CAG	SMCHD1	-	NULL		0.612	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2656258	1	no_errors	ENST00000320876	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2656258	C	T	2656258	4	4	135	1	0	0	0	0	0	1	0	0	14818	827	29	1	186	1	SMCHD1	18	2656258	Nonsense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		2656258	75420990	54	22521										
LPIN2	9663	genome.wustl.edu	37	chr18	2921538	2921538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aggagatactcacatttggaCggtttccaaaggcagcatag	11	8	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr18:2921538C>T	ENST00000261596.4	-	18	2673	c.2435G>A	c.(2434-2436)cGt>cAt	p.R812H	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	812	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CACATTTGGACGGTTTCCAAA	0.453																																																	0													104	101	102					18																	2921538		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2435G>A	18.37:g.2921538C>T	ENSP00000261596:p.Arg812His		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.R812H	ENST00000261596.4	37	c.2435	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.542485	0.96474	.	.	ENSG00000101577	ENST00000261596	T	0.78364	-1.17	5.56	5.56	0.83823	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.90772	0.7103	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92173	0.5745	10	0.87932	D	0	.	19.5275	0.95212	0.0:1.0:0.0:0.0	.	812	Q92539	LPIN2_HUMAN	H	812	ENSP00000261596:R812H	ENSP00000261596:R812H	R	-	2	0	LPIN2	2911538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.398000	0.79919	2.616000	0.88540	0.563000	0.77884	CGT	LPIN2	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.453	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2921538	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2921538	C	T	2921538	3	4	135	1	0	0	0	0	1	0	0	0	8942	536	19	2	267	2	LPIN2	18	2921538	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	265280	2921538	75155710	55	22522										
TTR	7276	genome.wustl.edu	37	chr18	29175194	29175194	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tactggaaggcacttggcatCtccccattccatgagcatgc	9	13	1	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr18:29175194C>T	ENST00000237014.3	+	3	489	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	104			I -> N (in AMYL-TTR; vitrous amyloid). {ECO:0000269|PubMed:17503405}.|I -> S (in AMYL-TTR; amyloid polyneuropathy; almost no RBP binding). {ECO:0000269|PubMed:17503405, ECO:0000269|PubMed:3722385, ECO:0000269|PubMed:8089102}.|I -> T (in AMYL-TTR). {ECO:0000269|PubMed:17503405}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CACTTGGCATCTCCCCATTCC	0.448																																																	0													136	110	119					18																	29175194		2203	4300	6503	SO:0001819	synonymous_variant	7276			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.312C>T	18.37:g.29175194C>T			Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Silent	SNP	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	p.I104	ENST00000237014.3	37	c.312	CCDS11899.1	18																																																																																			TTR	-	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase		0.448	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTR	HGNC	protein_coding	OTTHUMT00000254948.1	C	NM_000371		29175194	1	no_errors	ENST00000237014	ensembl	human	known	70_37	silent	SNP	0.624	T	T	29175194	C	T	29175194	2	4	135	1	0	0	0	0	0	0	0	1	16769	903	32	1		1	TTR	18	29175194	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	26253656	29175194	48902054	56	22523										
RTTN	25914	genome.wustl.edu	37	chr18	67727191	67727191	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tgcacattgctgaaagaagaGatggagtaacaaaaacacac	9	7	0	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr18:67727191G>A	ENST00000255674.6	-	36	5121	c.4835C>T	c.(4834-4836)tCt>tTt	p.S1612F	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1612					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGAAAGAAGAGATGGAGTAAC	0.458																																																	0													120	125	123					18																	67727191		1959	4142	6101	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4835C>T	18.37:g.67727191G>A	ENSP00000255674:p.Ser1612Phe		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1612F	ENST00000255674.6	37	c.4835	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417926	0.42918	.	.	ENSG00000176225	ENST00000255674	T	0.54675	0.56	5.92	5.04	0.67666	Armadillo-like helical (1);	0.537903	0.21891	N	0.067589	T	0.37348	0.1000	N	0.22421	0.69	0.46478	D	0.999068	P	0.47409	0.895	B	0.40101	0.319	T	0.28459	-1.0043	10	0.54805	T	0.06	.	9.8193	0.40871	0.0:0.1523:0.6897:0.158	.	1612	Q86VV8	RTTN_HUMAN	F	1612	ENSP00000255674:S1612F	ENSP00000255674:S1612F	S	-	2	0	RTTN	65878171	0.076000	0.21285	0.115000	0.21578	0.126000	0.20510	2.878000	0.48515	1.485000	0.48380	0.650000	0.86243	TCT	RTTN	-	NULL		0.458	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67727191	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	0.650	A	A	67727191	G	A	67727191	3	1	135	1	0	0	0	0	1	0	0	0	13767	942	33	1	1901	1	RTTN	18	67727191	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	38551997	67727191	10350057	57	22524										
ATP8B3	148229	genome.wustl.edu	37	chr19	1785271	1785271	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tggtcgccacgcacagggcgGtccagtacttgatgataaga	13	10	0	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr19:1785271G>C	ENST00000310127.6	-	27	3657	c.3419C>G	c.(3418-3420)aCc>aGc	p.T1140S	ATP8B3_ENST00000539485.1_Missense_Mutation_p.T1150S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.T1103S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1140					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGGGCGGTCCAGTACTT	0.607																																																	0													40	50	46					19																	1785271		2192	4289	6481	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3419C>G	19.37:g.1785271G>C	ENSP00000311336:p.Thr1140Ser		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T1150S	ENST00000310127.6	37	c.3449	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304095	0.40795	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.61859	0.07;0.07;0.07	4.49	2.26	0.28386	.	0.055995	0.64402	D	0.000001	T	0.73513	0.3596	M	0.84585	2.705	0.30883	N	0.731167	P;D	0.63880	0.911;0.993	P;P	0.59487	0.727;0.858	T	0.77705	-0.2488	10	0.87932	D	0	.	13.4614	0.61229	0.0:0.3004:0.6996:0.0	.	1140;1103	O60423;Q7Z485	AT8B3_HUMAN;.	S	1140;1150;1103	ENSP00000311336:T1140S;ENSP00000443574:T1150S;ENSP00000437115:T1103S	ENSP00000311336:T1140S	T	-	2	0	ATP8B3	1736271	1.000000	0.71417	0.866000	0.34008	0.086000	0.17979	5.074000	0.64401	0.308000	0.22923	-0.150000	0.13652	ACC	ATP8B3	-	NULL		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	G	NM_138813		1785271	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	missense	SNP	0.986	C	C	1785271	G	C	1785271	3	2	135	1	0	0	0	0	1	0	0	0	1197	1261	44	4	495	4	ATP8B3	19	1785271	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09		1785271	57343712	58	22525										
ZFR2	23217	genome.wustl.edu	37	chr19	3827625	3827625	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	gcctccttctttctgtgcttCtgccctcccagatgttcccg	7	17	3	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr19:3827625C>T	ENST00000262961.4	-	6	889	c.879G>A	c.(877-879)caG>caA	p.Q293Q		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	293							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TTCTGTGCTTCTGCCCTCCCA	0.692																																																	0													20	21	21					19																	3827625		1978	4138	6116	SO:0001819	synonymous_variant	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.879G>A	19.37:g.3827625C>T				Silent	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.Q293	ENST00000262961.4	37	c.879	CCDS45921.1	19																																																																																			ZFR2	-	smart_Znf_U1,smart_Znf_C2H2-like		0.692	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3827625	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3827625	C	T	3827625	2	4	135	1	0	0	0	0	0	0	0	1	17690	912	32	1		1	ZFR2	19	3827625	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	2042354	3827625	55301358	59	22526										
PLIN3	10226	genome.wustl.edu	37	chr19	4844784	4844784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttccaccagcttctgatcaaCgccttgcttgacagtttcca	6	14	2	2	rs577339133		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr19:4844784C>T	ENST00000221957.4	-	7	1032	c.856G>A	c.(856-858)Gtt>Att	p.V286I	PLIN3_ENST00000585479.1_Missense_Mutation_p.V286I|PLIN3_ENST00000592528.1_Missense_Mutation_p.V274I	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	286					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTCTGATCAACGCCTTGCTTG	0.602													C|||	1	0.000199681	0	0	5008	,	,		18513	0		0	False		,,,				2504	0.001																0													39	31	34					19																	4844784		2203	4299	6502	SO:0001583	missense	10226			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.856G>A	19.37:g.4844784C>T	ENSP00000221957:p.Val286Ile		A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.V286I	ENST00000221957.4	37	c.856	CCDS12137.1	19	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572740	0.28092	.	.	ENSG00000105355	ENST00000221957	T	0.06528	3.29	4.19	1.98	0.26296	.	0.506362	0.18644	U	0.135206	T	0.07324	0.0185	L	0.51853	1.615	0.09310	N	1	B;B;B	0.16396	0.008;0.017;0.009	B;B;B	0.17722	0.007;0.019;0.013	T	0.23297	-1.0192	10	0.44086	T	0.13	-19.3695	10.3103	0.43704	0.0:0.8331:0.0:0.1669	.	286;103;286	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	I	286	ENSP00000221957:V286I	ENSP00000221957:V286I	V	-	1	0	PLIN3	4795784	0.000000	0.05858	0.003000	0.11579	0.082000	0.17680	0.275000	0.18698	0.977000	0.38444	0.561000	0.74099	GTT	PLIN3	-	pfam_Perilipin,pirsf_Perilipin		0.602	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLIN3	HGNC	protein_coding	OTTHUMT00000450436.1	C	NM_005817		4844784	-1	no_errors	ENST00000221957	ensembl	human	known	70_37	missense	SNP	0.004	T	T	4844784	C	T	4844784	3	4	135	1	0	0	0	0	1	0	0	0	12115	536	19	2	456	2	PLIN3	19	4844784	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	1017159	4844784	54284199	60	22527										
LTBP4	8425	genome.wustl.edu	37	chr19	41105464	41105464	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tcaactggcagccactgacgTgagtgggcagtccctcccct	11	15	1	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr19:41105464T>C	ENST00000602240.1	+	3	230		c.e3+2		LTBP4_ENST00000308370.7_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000396819.3_5'Flank|LTBP4_ENST00000545697.1_Splice_Site			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACTGACGTGAGTGGGCAG	0.652																																																	0													77	88	84					19																	41105464		2033	4193	6226	SO:0001630	splice_region_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000602240.1:c.230+2T>C	19.37:g.41105464T>C			O00508|O75412|O75413	Splice_Site	SNP	-	e3+2	ENST00000602240.1	37	c.341+2		19	.	.	.	.	.	.	.	.	.	.	t	16.50	3.139972	0.56936	.	.	ENSG00000090006	ENST00000204005;ENST00000308370	.	.	.	4.55	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4827	0.27415	0.0:0.0:0.2203:0.7797	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP4	45797304	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.163000	0.42377	1.695000	0.51148	0.454000	0.30748	.	LTBP4	-	-		0.652	LTBP4-002	KNOWN	sequence_error|basic	processed_transcript	LTBP4	HGNC	protein_coding	OTTHUMT00000462815.2	T	NM_003573	Intron	41105464	1	no_errors	ENST00000308370	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	41105464	T	C	41105464	5	2	135	1	0	0	0	0	0	0	1	0	9099	1710	59	5	392	5	LTBP4	19	41105464	Splice_Site	SNP	T	TCGA-FU-A3WB-01A-11D-A22X-09	36260680	41105464	18023519	61	22528										
FCGRT	2217	genome.wustl.edu	37	chr19	50027862	50027862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	accctccggagctgcaacttCggttcctgcggaatgggctg	13	13	0	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr19:50027862C>T	ENST00000221466.5	+	5	1186	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	FCGRT_ENST00000596975.1_Missense_Mutation_p.R142W|FCGRT_ENST00000426395.3_Missense_Mutation_p.R234W|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	234	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCTGCAACTTCGGTTCCTGCG	0.637																																																	0													71	62	65					19																	50027862		2203	4300	6503	SO:0001583	missense	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.700C>T	19.37:g.50027862C>T	ENSP00000221466:p.Arg234Trp		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R234W	ENST00000221466.5	37	c.700	CCDS12770.1	19	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795175	0.31777	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.03035	4.07;4.07	4.48	-0.541	0.11858	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.355797	0.17909	N	0.157932	T	0.11324	0.0276	M	0.65677	2.01	0.09310	N	0.999999	D	0.89917	1.0	D	0.71870	0.975	T	0.03887	-1.0995	10	0.87932	D	0	.	7.0924	0.25291	0.4957:0.3429:0.1615:0.0	.	234	P55899	FCGRN_HUMAN	W	234	ENSP00000221466:R234W;ENSP00000410798:R234W	ENSP00000221466:R234W	R	+	1	2	FCGRT	54719674	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	0.357000	0.20199	0.219000	0.20840	0.462000	0.41574	CGG	FCGRT	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.637	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	C			50027862	1	no_errors	ENST00000221466	ensembl	human	known	70_37	missense	SNP	0.000	T	T	50027862	C	T	50027862	3	4	135	1	0	0	0	0	1	0	0	0	5804	875	31	1	714	1	FCGRT	19	50027862	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	8922398	50027862	9101121	62	22529										
POLD1	5424	genome.wustl.edu	37	chr19	50905324	50905324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ccatcagccgggacagtcgcGgggggagggagctgactggg	20	10	1	1	rs140707092		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr19:50905324G>T	ENST00000440232.2	+	5	585	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	POLD1_ENST00000595904.1_Missense_Mutation_p.G178W|POLD1_ENST00000599857.1_Missense_Mutation_p.G178W	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGACAGTCGCGGGGGGAGGGA	0.672								DNA polymerases (catalytic subunits)																																									0													32	39	37					19																	50905324		2203	4300	6503	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.532G>T	19.37:g.50905324G>T	ENSP00000406046:p.Gly178Trp		Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.G178W	ENST00000440232.2	37	c.532	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373085	0.24857	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.31510	1.49	4.32	3.27	0.37495	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.596363	0.16445	N	0.214136	T	0.43055	0.1230	L	0.48362	1.52	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.959;0.972	T	0.13926	-1.0491	10	0.87932	D	0	-29.9694	6.7682	0.23579	0.0947:0.0:0.731:0.1742	.	178;178	E7EVW0;P28340	.;DPOD1_HUMAN	W	178;179	ENSP00000406046:G178W	ENSP00000366129:G179W	G	+	1	0	POLD1	55597136	0.453000	0.25721	0.370000	0.25965	0.031000	0.12232	2.365000	0.44196	0.957000	0.37930	0.491000	0.48974	GGG	POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	G			50905324	1	no_errors	ENST00000440232	ensembl	human	known	70_37	missense	SNP	0.061	T	T	50905324	G	T	50905324	3	4	135	1	0	0	0	0	1	0	0	0	12214	1116	39	2	546	2	POLD1	19	50905324	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	877462	50905324	8223659	63	22530										
SIRPA	140885	genome.wustl.edu	37	chr20	1896052	1896052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aagttccggaaagggagcccCgatgacgtggagtttaagtc	14	8	0	1	rs139878822|rs202172737	byFrequency	TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr20:1896052C>T	ENST00000358771.4	+	2	539	c.387C>T	c.(385-387)ccC>ccT	p.P129P	SIRPA_ENST00000400068.3_Silent_p.P129P|SIRPA_ENST00000356025.3_Silent_p.P129P	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	129	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D131delD(2)|p.P129P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGGGAGCCCCGATGACGTGG	0.532																																					GBM(155;1668 1920 5945 42733 48121)												3	Deletion - In frame(2)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)											114	98	103					20																	1896052		2120	4008	6128	SO:0001819	synonymous_variant	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.387C>T	20.37:g.1896052C>T			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.P129	ENST00000358771.4	37	c.387	CCDS13022.1	20																																																																																			SIRPA	-	pfam_Ig_V-set,smart_Ig_sub		0.532	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	C	NM_080792		1896052	1	no_errors	ENST00000400068	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1896052	C	T	1896052	2	4	135	1	0	0	0	0	0	0	0	1	14362	639	23	2		2	SIRPA	20	1896052	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		1896052	61129468	64	22531										
CDC25B	994	genome.wustl.edu	37	chr20	3782721	3782721	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ggcggagcgtgacccctcctGaggagcagcaggaggctgag	18	11	0	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr20:3782721G>A	ENST00000245960.5	+	10	1769	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CDC25B_ENST00000379598.5_Missense_Mutation_p.E267K|CDC25B_ENST00000340833.4_Missense_Mutation_p.E317K|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.E344K|CDC25B_ENST00000344256.6_Missense_Mutation_p.E294K	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	358					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GACCCCTCCTGAGGAGCAGCA	0.647																																																	0													31	27	28					20																	3782721		2184	4268	6452	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1072G>A	20.37:g.3782721G>A	ENSP00000245960:p.Glu358Lys		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E358K	ENST00000245960.5	37	c.1072	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515924	0.27123	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	4.62	3.65	0.41850	.	0.314966	0.30329	N	0.009867	T	0.24928	0.0605	L	0.44542	1.39	0.26074	N	0.981172	P;P;P;B;P;P	0.46512	0.772;0.879;0.772;0.218;0.604;0.772	B;P;B;B;B;B	0.46796	0.428;0.527;0.428;0.047;0.22;0.403	T	0.06991	-1.0796	10	0.18710	T	0.47	.	11.369	0.49690	0.0976:0.0:0.9024:0.0	.	267;280;294;317;344;358	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	K	294;267;358;344;317	ENSP00000339125:E294K;ENSP00000368918:E267K;ENSP00000245960:E358K;ENSP00000405972:E344K;ENSP00000339170:E317K	ENSP00000245960:E358K	E	+	1	0	CDC25B	3730721	.	.	0.401000	0.26359	0.485000	0.33311	.	.	2.288000	0.76882	0.591000	0.81541	GAG	CDC25B	-	pfam_MPI_Phosphatase		0.647	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3782721	1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	0.426	A	A	3782721	G	A	3782721	3	1	135	1	0	0	0	0	1	0	0	0	3068	1291	45	1	1110	1	CDC25B	20	3782721	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	1886669	3782721	59242799	65	22532										
HMGXB4	10042	genome.wustl.edu	37	chr22	35660934	35660934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	acacagagacactgacccttCgggagcctgatggtttaaaa	10	10	0	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr22:35660934C>T	ENST00000216106.5	+	5	681	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	HMGXB4_ENST00000444518.2_Missense_Mutation_p.R76W	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	185					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTGACCCTTCGGGAGCCTGA	0.463																																																	0													105	110	109					22																	35660934		2203	4300	6503	SO:0001583	missense	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.553C>T	22.37:g.35660934C>T	ENSP00000216106:p.Arg185Trp		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R185W	ENST00000216106.5	37	c.553	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842206	0.71488	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.88	5.88	0.94601	.	0.105878	0.64402	D	0.000006	T	0.60843	0.2300	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	T	0.62525	-0.6836	10	0.87932	D	0	-3.2709	20.2366	0.98359	0.0:1.0:0.0:0.0	.	185	Q9UGU5	HMGX4_HUMAN	W	76;76;76;185	ENSP00000401658:R76W;ENSP00000398302:R76W;ENSP00000415500:R76W;ENSP00000216106:R185W	ENSP00000216106:R185W	R	+	1	2	HMGXB4	33990934	1.000000	0.71417	0.600000	0.28864	0.971000	0.66376	4.815000	0.62634	2.792000	0.96026	0.557000	0.71058	CGG	HMGXB4	-	NULL		0.463	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	C	NM_005487		35660934	1	no_errors	ENST00000216106	ensembl	human	known	70_37	missense	SNP	0.996	T	T	35660934	C	T	35660934	3	4	135	1	0	0	0	0	1	0	0	0	7259	875	31	1	567	1	HMGXB4	22	35660934	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		35660934	15643632	66	22533										
APOL5	80831	genome.wustl.edu	37	chr22	36122624	36122624	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	aggaggcagtctcatgctctCagcaactgggacagggttgg	15	9	2	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr22:36122624C>T	ENST00000249044.2	+	3	509	c.509C>T	c.(508-510)tCa>tTa	p.S170L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	170					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTCATGCTCTCAGCAACTGGG	0.542																																																	0													68	73	71					22																	36122624		2203	4299	6502	SO:0001583	missense	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.509C>T	22.37:g.36122624C>T	ENSP00000249044:p.Ser170Leu		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.S170L	ENST00000249044.2	37	c.509	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657171	0.29425	.	.	ENSG00000128313	ENST00000249044	T	0.03635	3.86	3.6	3.6	0.41247	.	0.106321	0.40222	U	0.001146	T	0.09730	0.0239	L	0.37466	1.105	0.21762	N	0.999559	D	0.89917	1.0	D	0.91635	0.999	T	0.16808	-1.0390	10	0.30078	T	0.28	.	12.1741	0.54176	0.0:1.0:0.0:0.0	.	170	Q9BWW9	APOL5_HUMAN	L	170	ENSP00000249044:S170L	ENSP00000249044:S170L	S	+	2	0	APOL5	34452570	0.003000	0.15002	0.026000	0.17262	0.009000	0.06853	1.549000	0.36212	1.582000	0.49881	0.655000	0.94253	TCA	APOL5	-	pfam_ApoL		0.542	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1	C	NM_030642		36122624	1	no_errors	ENST00000249044	ensembl	human	known	70_37	missense	SNP	0.580	T	T	36122624	C	T	36122624	3	4	135	1	0	0	0	0	1	0	0	0	809	838	29	1	519	1	APOL5	22	36122624	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	461690	36122624	15181942	67	22534										
SMC1B	27127	genome.wustl.edu	37	chr22	45802378	45802378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ttgcttgtctgcgctctgccGctatattttttttcttatta	6	9	3	0			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chr22:45802378G>A	ENST00000357450.4	-	4	577	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A193V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	193					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCGCTCTGCCGCTATATTTTT	0.338																																																	0													84	79	81					22																	45802378		1814	4076	5890	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.578C>T	22.37:g.45802378G>A	ENSP00000350036:p.Ala193Val		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.A193V	ENST00000357450.4	37	c.578	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	G	33	5.264921	0.95399	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.78707	-1.2;3.26	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000011	T	0.76716	0.4026	L	0.45285	1.41	0.80722	D	1	P;P	0.50819	0.87;0.939	B;P	0.46253	0.41;0.509	T	0.73717	-0.3895	10	0.28530	T	0.3	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	193;193	Q8NDV3-2;Q8NDV3-3	.;.	V	193	ENSP00000350036:A193V;ENSP00000385902:A193V	ENSP00000350036:A193V	A	-	2	0	SMC1B	44181042	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.297000	0.72757	2.716000	0.92895	0.561000	0.74099	GCG	SMC1B	-	pfam_RecF/RecN/SMC		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	G	NM_148674		45802378	-1	no_errors	ENST00000357450	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45802378	G	A	45802378	3	1	135	1	0	0	0	0	1	0	0	0	14812	1087	38	2	3217	2	SMC1B	22	45802378	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	9679754	45802378	5502188	68	22535										
ARMCX5	64860	genome.wustl.edu	37	chrX	101858743	101858743	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	atacgattaatactaaaactCtgaatacccctctgttctca	3	11	3	1			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chrX:101858743C>G	ENST00000604957.1	+	1	4296	c.1674C>G	c.(1672-1674)ctC>ctG	p.L558L	ARMCX5_ENST00000246174.2_Silent_p.L558L|ARMCX5_ENST00000537008.1_Silent_p.L558L|ARMCX5_ENST00000536530.1_Silent_p.L558L|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Silent_p.L558L|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Silent_p.L558L	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	558										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TACTAAAACTCTGAATACCCC	0.353																																																	0													69	71	70					X																	101858743		2199	4293	6492	SO:0001819	synonymous_variant	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1674C>G	X.37:g.101858743C>G			B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.L558	ENST00000604957.1	37	c.1674	CCDS14500.1	X																																																																																			ARMCX5	-	superfamily_ARM-type_fold		0.353	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	C	NM_022838		101858743	1	no_errors	ENST00000246174	ensembl	human	known	70_37	silent	SNP	0.997	G	G	101858743	C	G	101858743	2	3	135	1	0	0	0	0	0	0	0	1	963	900	32	1		1	ARMCX5	23	101858743	Silent	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09		101858743	53411817	69	22536										
KIAA1210	57481	genome.wustl.edu	37	chrX	118223458	118223458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	cgagaaagggacattcctggCagtcttattggtaggtgaag	14	6	1	2			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chrX:118223458C>T	ENST00000402510.2	-	11	1734	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	579										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACATTCCTGGCAGTCTTATTG	0.493																																																	0													129	122	124					X																	118223458		1980	4150	6130	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1735G>A	X.37:g.118223458C>T	ENSP00000384670:p.Ala579Thr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.A579T	ENST00000402510.2	37	c.1735	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571626	0.28003	.	.	ENSG00000250423	ENST00000402510	T	0.26373	1.74	4.96	-0.456	0.12190	.	.	.	.	.	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	P	0.45126	0.851	P	0.47402	0.546	T	0.23226	-1.0194	9	0.20046	T	0.44	.	6.8799	0.24166	0.5874:0.3221:0.0:0.0905	.	579	Q9ULL0	K1210_HUMAN	T	579	ENSP00000384670:A579T	ENSP00000384670:A579T	A	-	1	0	RP13-347D8.6	118107486	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.064000	0.03461	-0.366000	0.08064	0.523000	0.50628	GCC	KIAA1210	-	NULL		0.493	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118223458	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.000	T	T	118223458	C	T	118223458	3	4	135	1	0	0	0	0	1	0	0	0	8234	710	25	4	3410	4	KIAA1210	23	118223458	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	16364715	118223458	37047102	70	22537										
SMARCA1	6594	genome.wustl.edu	37	chrX	128582408	128582408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	tgaaatcagagtgttacagcGtctctggaattcctaaatga	9	7	2	3			TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chrX:128582408G>A	ENST00000371122.4	-	24	3172	c.3043C>T	c.(3043-3045)Cgc>Tgc	p.R1015C	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R1003C|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R1003C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1015	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTGTTACAGCGTCTCTGGAAT	0.333																																																	0													109	103	105					X																	128582408		2203	4299	6502	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3043C>T	X.37:g.128582408G>A	ENSP00000360163:p.Arg1015Cys		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1015C	ENST00000371122.4	37	c.3043	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488735	0.64074	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.95949	-3.85;-3.85;-3.86;-3.78	5.87	5.87	0.94306	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000006	D	0.98513	0.9504	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99285	1.0897	10	0.87932	D	0	-4.1744	19.3889	0.94570	0.0:0.0:1.0:0.0	.	994;1015;1003;1015	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	1003;1003;1015;994	ENSP00000360162:R1003C;ENSP00000360164:R1003C;ENSP00000360163:R1015C;ENSP00000404275:R994C	ENSP00000360162:R1003C	R	-	1	0	SMARCA1	128410089	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.756000	0.85195	2.618000	0.88619	0.600000	0.82982	CGC	SMARCA1	-	pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb		0.333	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	G	NM_003069		128582408	-1	no_errors	ENST00000371122	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128582408	G	A	128582408	3	1	135	1	0	0	0	0	1	0	0	0	14798	1145	40	2	125	2	SMARCA1	23	128582408	Missense_Mutation	SNP	G	TCGA-FU-A3WB-01A-11D-A22X-09	10358950	128582408	26688152	71	22538										
FAM3A	60343	genome.wustl.edu	37	chrX	153741234	153741234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319444444444444	23	2.03221375748172e-06	2.96617746288799	4.67788461538461	2.55685618729097	0.0222412956917225	0.0770502029320387	15	ccatgtgacacccacactgaCgactaggaccacaatgcgga	9	14	0	2	rs181188384		TCGA-FU-A3WB-01A-11D-A22X-09	TCGA-FU-A3WB-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	08d5bef0-b055-4479-b56c-cd716d6b6a95	b096c6ae-e4ed-41a0-a02f-1a1913ef0f31	g.chrX:153741234C>T	ENST00000447601.2	-	2	506	c.40G>A	c.(40-42)Gtc>Atc	p.V14I	FAM3A_ENST00000359889.5_Missense_Mutation_p.V14I|FAM3A_ENST00000369641.3_Missense_Mutation_p.V14I|FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000369643.1_Missense_Mutation_p.V14I|FAM3A_ENST00000434658.2_Missense_Mutation_p.V14I|FAM3A_ENST00000492763.1_5'UTR	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	14						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCACACTGACGACTAGGACC	0.592													c|||	1	0.000264901	0	0	3775	,	,		14778	0		0.001	False		,,,				2504	0																0													148	106	120					X																	153741234		2203	4300	6503	SO:0001583	missense	60343			X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.40G>A	X.37:g.153741234C>T	ENSP00000416146:p.Val14Ile		A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	NULL	p.V14I	ENST00000447601.2	37	c.40	CCDS35453.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.981	-0.210413	0.06140	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000426266	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	4.61	-4.05	0.03998	.	0.430348	0.20823	N	0.085027	T	0.06371	0.0164	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24835	-1.0149	10	0.15066	T	0.55	.	1.6439	0.02758	0.1681:0.148:0.1926:0.4913	.	14;14	B4DFI8;P98173	.;FAM3A_HUMAN	I	14	ENSP00000396243:V14I;ENSP00000352955:V14I;ENSP00000358657:V14I;ENSP00000416146:V14I;ENSP00000358655:V14I;ENSP00000396845:V14I	ENSP00000320521:V14I	V	-	1	0	FAM3A	153394428	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.255000	0.02872	-0.662000	0.05338	-0.430000	0.05897	GTC	FAM3A	-	NULL		0.592	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3A	HGNC	protein_coding	OTTHUMT00000037362.2	C			153741234	-1	no_errors	ENST00000359889	ensembl	human	known	70_37	missense	SNP	0.000	T	T	153741234	C	T	153741234	3	4	135	1	0	0	0	0	1	0	0	0	5574	536	19	2	684	2	FAM3A	23	153741234	Missense_Mutation	SNP	C	TCGA-FU-A3WB-01A-11D-A22X-09	25158826	153741234	1529326	72	22539										
RUNX3	864	genome.wustl.edu	37	chr1	25228968	25228968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ggtggaagcggctggtggccGgcatgcccgccacgctgagg	19	12	0	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:25228968G>A	ENST00000308873.6	-	5	901	c.893C>T	c.(892-894)cCg>cTg	p.P298L	RUNX3_ENST00000338888.3_Missense_Mutation_p.P312L|RUNX3_ENST00000399916.1_Missense_Mutation_p.P312L|RUNX3_ENST00000540420.1_Missense_Mutation_p.P205L|RUNX3_ENST00000496967.1_5'Flank	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	298	Pro/Ser/Thr-rich.			MP -> IS (in Ref. 2; CAA56093). {ECO:0000305}.	axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCTGGTGGCCGGCATGCCCGC	0.701																																																	0													20	30	26					1																	25228968		2183	4259	6442	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.893C>T	1.37:g.25228968G>A	ENSP00000308051:p.Pro298Leu		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N	p.P312L	ENST00000308873.6	37	c.935	CCDS257.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399712	0.83120	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.96830	-4.14;-4.13;-4.14;-3.77	4.1	3.15	0.36227	.	0.252085	0.31624	N	0.007337	D	0.94951	0.8367	M	0.68952	2.095	0.80722	D	1	B;D;P	0.56746	0.287;0.977;0.727	B;P;B	0.44772	0.048;0.46;0.129	D	0.93152	0.6550	10	0.34782	T	0.22	-13.7521	13.2626	0.60113	0.0:0.0:0.8399:0.1601	.	245;312;298	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	L	312;298;312;205;245	ENSP00000382800:P312L;ENSP00000308051:P298L;ENSP00000343477:P312L;ENSP00000444872:P205L	ENSP00000308051:P298L	P	-	2	0	RUNX3	25101555	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.203000	0.77864	1.050000	0.40346	0.456000	0.33151	CCG	RUNX3	-	pirsf_TF_Runt-rel_RUNX		0.701	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	HGNC	protein_coding	OTTHUMT00000009284.1	G	NM_004350		25228968	-1	no_errors	ENST00000338888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25228968	G	A	25228968	3	1	136	1	0	0	0	0	1	0	0	0	13779	1116	39	2	358	2	RUNX3	1	25228968	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		25228968	224021653	1	22540										
PTPRF	5792	genome.wustl.edu	37	chr1	44086197	44086197	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttgttgttgacccgatggctGagtacaacatgccccagtat	10	10	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:44086197G>C	ENST00000359947.4	+	31	5651	c.5311G>C	c.(5311-5313)Gag>Cag	p.E1771Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1762Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1771Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1130Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1762Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1771	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCGATGGCTGAGTACAACAT	0.567																																																	0													189	156	167					1																	44086197		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5311G>C	1.37:g.44086197G>C	ENSP00000353030:p.Glu1771Gln		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E1771Q	ENST00000359947.4	37	c.5311	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.386133|4.386133	0.82902|0.82902	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6|.	5.21|5.21	5.21|5.21	0.72293|0.72293	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34700|.	N|.	0.003760|.	T|.	0.74129|.	0.3676|.	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;P;P;D;D|.	0.89917|.	0.683;0.661;0.686;0.993;1.0|.	B;B;B;D;D|.	0.85130|.	0.219;0.339;0.337;0.947;0.997|.	T|.	0.71401|.	-0.4604|.	10|.	0.56958|.	D|.	0.05|.	.|.	19.6545|19.6545	0.95831|0.95831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1416;1130;1348;1762;1771|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	Q|S	1771;1762;1771;1762;1130;843|1154;1195	ENSP00000353030:E1771Q;ENSP00000398822:E1762Q;ENSP00000361491:E1771Q;ENSP00000361490:E1762Q;ENSP00000387885:E1130Q;ENSP00000361484:E843Q|.	ENSP00000353030:E1771Q|.	E|X	+|+	1|2	0|2	PTPRF|PTPRF	43858784|43858784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.807000|9.807000	0.99171|0.99171	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|TGA	PTPRF	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44086197	1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44086197	G	C	44086197	3	2	136	1	0	0	0	0	1	0	0	0	12831	1291	45	1	5425	1	PTPRF	1	44086197	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	18857229	44086197	205164424	2	22541										
EFCAB7	84455	genome.wustl.edu	37	chr1	63998424	63998424	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gatggcaaatttgactacatCaaggtacataagctcacatt	7	8	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:63998424C>T	ENST00000371088.4	+	4	729	c.483C>T	c.(481-483)atC>atT	p.I161I	RN7SL488P_ENST00000585186.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	161	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTGACTACATCAAGGTACATA	0.318																																																	0													103	107	106					1																	63998424		2203	4298	6501	SO:0001819	synonymous_variant	84455			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.483C>T	1.37:g.63998424C>T			Q658P0|Q96B95|Q96JM6	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I161	ENST00000371088.4	37	c.483	CCDS30737.1	1																																																																																			EFCAB7	-	smart_EF_hand_Ca-bd		0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	C	NM_032437		63998424	1	no_errors	ENST00000371088	ensembl	human	known	70_37	silent	SNP	0.743	T	T	63998424	C	T	63998424	2	4	136	1	0	0	0	0	0	0	0	1	4950	816	29	1		1	EFCAB7	1	63998424	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	19912227	63998424	185252197	3	22542										
ABL2	27	genome.wustl.edu	37	chr1	179095626	179095626	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cgcaccaggaagctgccattGattagactgctgagcagata	11	10	0	4			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:179095626G>A	ENST00000502732.1	-	4	776	c.573C>T	c.(571-573)atC>atT	p.I191I	ABL2_ENST00000511413.1_Silent_p.I191I|ABL2_ENST00000504405.1_Silent_p.I155I|ABL2_ENST00000344730.3_Silent_p.I176I|ABL2_ENST00000392043.3_Silent_p.I170I|ABL2_ENST00000408940.3_Silent_p.I155I|ABL2_ENST00000367623.4_Silent_p.I170I|ABL2_ENST00000507173.1_Silent_p.I170I|ABL2_ENST00000512653.1_Silent_p.I176I	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	191	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCTGCCATTGATTAGACTGC	0.527			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													142	124	130					1																	179095626		2203	4300	6503	SO:0001819	synonymous_variant	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.573C>T	1.37:g.179095626G>A			A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.I191	ENST00000502732.1	37	c.573	CCDS30947.1	1																																																																																			ABL2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.527	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	G	NM_005158		179095626	-1	no_errors	ENST00000502732	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179095626	G	A	179095626	2	1	136	1	0	0	0	0	0	0	0	1	93	1280	45	1		1	ABL2	1	179095626	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	115097202	179095626	70154995	4	22543										
CEP350	9857	genome.wustl.edu	37	chr1	179961214	179961214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cagatggtagatacctggatGattcttgggttaatgctcca	11	7	1	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:179961214G>A	ENST00000367607.3	+	5	671	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	85					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATACCTGGATGATTCTTGGGT	0.378																																																	0													43	41	42					1																	179961214		2202	4296	6498	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.253G>A	1.37:g.179961214G>A	ENSP00000356579:p.Asp85Asn		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D85N	ENST00000367607.3	37	c.253	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160915	0.78226	.	.	ENSG00000135837	ENST00000367607;ENST00000491495;ENST00000357434	T	0.61627	0.09	5.64	5.64	0.86602	.	0.000000	0.47852	D	0.000215	T	0.53012	0.1770	N	0.24115	0.695	0.35959	D	0.834448	B;P;P	0.52463	0.39;0.953;0.865	B;P;P	0.47744	0.127;0.556;0.521	T	0.56517	-0.7966	9	.	.	.	.	19.6584	0.95853	0.0:0.0:1.0:0.0	.	85;85;59	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	N	85;59;84	ENSP00000356579:D85N	.	D	+	1	0	CEP350	178227837	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.929000	0.48916	2.817000	0.96982	0.643000	0.83706	GAT	CEP350	-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		179961214	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179961214	G	A	179961214	3	1	136	1	0	0	0	0	1	0	0	0	3259	1290	45	1	267	1	CEP350	1	179961214	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	865588	179961214	69289407	5	22544										
RBMS1	5937	genome.wustl.edu	37	chr2	161143497	161143497	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tacaagtctcacctctccttCtctatgccatggtcttccat	4	15	4	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:161143497C>G	ENST00000348849.3	-	7	1169	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	RBMS1_ENST00000409075.1_Missense_Mutation_p.E214Q|RBMS1_ENST00000409289.2_Missense_Mutation_p.E214Q|RBMS1_ENST00000409972.1_Missense_Mutation_p.E214Q|RBMS1_ENST00000392753.3_Missense_Mutation_p.E247Q|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	247					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								ACCTCTCCTTCTCTATGCCAT	0.453																																																	0													255	249	251					2																	161143497		2203	4300	6503	SO:0001583	missense	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.739G>C	2.37:g.161143497C>G	ENSP00000294904:p.Glu247Gln		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.E247Q	ENST00000348849.3	37	c.739	CCDS2213.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078457	0.76528	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.78	5.78	0.91487	.	0.096640	0.64402	D	0.000001	T	0.77391	0.4123	L	0.58101	1.795	0.58432	D	0.999996	B;P;P;B;P;B	0.44816	0.07;0.563;0.844;0.145;0.563;0.02	B;P;B;B;B;B	0.45794	0.16;0.493;0.445;0.224;0.317;0.102	T	0.76016	-0.3113	10	0.39692	T	0.17	.	20.0065	0.97435	0.0:1.0:0.0:0.0	.	113;247;247;113;214;247	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	Q	247;214;214;247;214	ENSP00000294904:E247Q;ENSP00000386347:E214Q;ENSP00000386571:E214Q;ENSP00000376508:E247Q;ENSP00000387280:E214Q	ENSP00000294904:E247Q	E	-	1	0	RBMS1	160851743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.713000	0.92767	0.655000	0.94253	GAA	RBMS1	-	NULL		0.453	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	C	NM_016836		161143497	-1	no_errors	ENST00000392753	ensembl	human	known	70_37	missense	SNP	1.000	G	G	161143497	C	G	161143497	3	3	136	1	0	0	0	0	1	0	0	0	13178	922	32	1	509	1	RBMS1	2	161143497	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		161143497	82055876	6	22545										
RAPGEF4	11069	genome.wustl.edu	37	chr2	173832141	173832141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgctgtcacagatgggccccGacgcccacatgaggatgatc	12	13	1	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:173832141G>A	ENST00000397081.3	+	10	1116	c.973G>A	c.(973-975)Gac>Aac	p.D325N	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D324N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D325N|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D105N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D172N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D154N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D181N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D172N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	325					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GATGGGCCCCGACGCCCACAT	0.582																																																	0													56	59	58					2																	173832141		2077	4219	6296	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.973G>A	2.37:g.173832141G>A	ENSP00000380271:p.Asp325Asn		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D325N	ENST00000397081.3	37	c.973	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.472373	0.96274	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.978;0.997;0.994;0.971;0.996	T	0.51036	-0.8756	10	0.72032	D	0.01	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	152;154;181;325;325	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	N	324;325;325;181;154;172;172;152;105	ENSP00000264111:D324N;ENSP00000380271:D325N;ENSP00000387104:D325N;ENSP00000380276:D181N;ENSP00000440135:D154N;ENSP00000440250:D172N;ENSP00000437384:D172N;ENSP00000438011:D105N	ENSP00000264111:D324N	D	+	1	0	RAPGEF4	173540387	1.000000	0.71417	0.778000	0.31720	0.754000	0.42855	9.822000	0.99363	2.478000	0.83669	0.561000	0.74099	GAC	RAPGEF4	-	NULL		0.582	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	G	NM_007023		173832141	1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173832141	G	A	173832141	3	1	136	1	0	0	0	0	1	0	0	0	13076	1058	37	1	1027	1	RAPGEF4	2	173832141	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	12688644	173832141	69367232	7	22546										
CLK1	1195	genome.wustl.edu	37	chr2	201724850	201724850	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttgaaaaatattctatacatCttgcacttagtacgtctcca	4	9	3	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:201724850C>G	ENST00000321356.4	-	4	614	c.479G>C	c.(478-480)aGa>aCa	p.R160T	CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000409769.2_5'Flank|CLK1_ENST00000434813.2_Missense_Mutation_p.R202T	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	160					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCTATACATCTTGCACTTAG	0.363																																																	0													153	135	141					2																	201724850		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.479G>C	2.37:g.201724850C>G	ENSP00000326830:p.Arg160Thr		B4DFW7|Q0P694|Q8N5V8	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.R160T	ENST00000321356.4	37	c.479	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031907	0.75504	.	.	ENSG00000013441	ENST00000321356;ENST00000434813	T;T	0.22945	1.93;1.93	5.38	5.38	0.77491	Protein kinase-like domain (1);	0.105349	0.64402	D	0.000005	T	0.40322	0.1112	M	0.76838	2.35	0.80722	D	1	P;P	0.48350	0.909;0.832	P;B	0.45037	0.467;0.37	T	0.46541	-0.9184	10	0.87932	D	0	.	19.1139	0.93330	0.0:1.0:0.0:0.0	.	202;160	B4DFW7;P49759	.;CLK1_HUMAN	T	160;202	ENSP00000326830:R160T;ENSP00000394734:R202T	ENSP00000326830:R160T	R	-	2	0	CLK1	201433095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.088000	0.71371	2.672000	0.90937	0.650000	0.86243	AGA	CLK1	-	superfamily_Kinase-like_dom		0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	C			201724850	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	1.000	G	G	201724850	C	G	201724850	3	3	136	1	0	0	0	0	1	0	0	0	3541	913	32	1	1015	1	CLK1	2	201724850	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	27892709	201724850	41474523	8	22547										
SPAG16	79582	genome.wustl.edu	37	chr2	214354699	214354699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttctctaggattcagaatttCccatagatatgcaaccaaat	5	9	2	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:214354699C>T	ENST00000331683.5	+	10	1050	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P225S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	319					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P319S(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCAGAATTTCCCATAGATAT	0.308																																																	1	Substitution - Missense(1)	skin(1)											55	64	61					2																	214354699		2195	4298	6493	SO:0001583	missense	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.955C>T	2.37:g.214354699C>T	ENSP00000332592:p.Pro319Ser		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P319S	ENST00000331683.5	37	c.955	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507076	0.44558	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.61859	0.36;0.25;0.07	5.93	5.93	0.95920	.	0.147407	0.43260	D	0.000581	T	0.61388	0.2343	L	0.29908	0.895	0.41997	D	0.990871	D;D;D;D	0.89917	1.0;1.0;0.989;1.0	D;D;P;D	0.81914	0.994;0.995;0.804;0.994	T	0.52946	-0.8507	10	0.05833	T	0.94	.	15.8397	0.78835	0.0:1.0:0.0:0.0	.	225;170;259;319	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	S	319;225;5	ENSP00000332592:P319S;ENSP00000363428:P225S;ENSP00000416600:P5S	ENSP00000332592:P319S	P	+	1	0	SPAG16	214062944	1.000000	0.71417	0.999000	0.59377	0.029000	0.11900	3.813000	0.55636	2.812000	0.96745	0.555000	0.69702	CCC	SPAG16	-	NULL		0.308	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	C	NM_024532		214354699	1	no_errors	ENST00000331683	ensembl	human	known	70_37	missense	SNP	1.000	T	T	214354699	C	T	214354699	3	4	136	1	0	0	0	0	1	0	0	0	15008	855	30	1	1009	1	SPAG16	2	214354699	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	12629849	214354699	28844674	9	22548										
DALRD3	55152	genome.wustl.edu	37	chr3	49054257	49054257	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ccaggtgcaccagctactttCacagggccacagatgaggtg	12	12	1	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:49054257C>T	ENST00000341949.4	-	6	957	c.951G>A	c.(949-951)gtG>gtA	p.V317V	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Silent_p.V150V|DALRD3_ENST00000395462.4_Silent_p.V150V|DALRD3_ENST00000440857.1_Silent_p.V150V|DALRD3_ENST00000441576.2_Silent_p.V317V	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	317					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCTACTTTCACAGGGCCAC	0.567																																																	0													91	85	87					3																	49054257		2203	4300	6503	SO:0001819	synonymous_variant	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.951G>A	3.37:g.49054257C>T			Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.V317	ENST00000341949.4	37	c.951	CCDS33754.1	3																																																																																			DALRD3	-	NULL		0.567	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49054257	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49054257	C	T	49054257	2	4	136	1	0	0	0	0	0	0	0	1	4234	813	29	1		1	DALRD3	3	49054257	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		49054257	148968173	10	22549										
ZBTB11	27107	genome.wustl.edu	37	chr3	101383876	101383876	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ctccattcccttgtgtagtcGaatatatgccccttcattaa	5	12	1	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:101383876G>A	ENST00000312938.4	-	4	2135	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	519					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.R519*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGTGTAGTCGAATATATGCC	0.428																																																	1	Substitution - Nonsense(1)	lung(1)											182	172	176					3																	101383876		2203	4300	6503	SO:0001587	stop_gained	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1555C>T	3.37:g.101383876G>A	ENSP00000326200:p.Arg519*		Q2NKP9	Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R519*	ENST00000312938.4	37	c.1555	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.570352	0.98868	.	.	ENSG00000066422	ENST00000312938	.	.	.	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5201	14.3542	0.66724	0.0:0.0:0.6201:0.3799	.	.	.	.	X	519	.	ENSP00000326200:R519X	R	-	1	2	ZBTB11	102866566	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	2.353000	0.44089	1.547000	0.49401	-0.169000	0.13324	CGA	ZBTB11	-	NULL		0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	G	NM_014415		101383876	-1	no_errors	ENST00000312938	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	101383876	G	A	101383876	4	1	136	1	0	0	0	0	0	1	0	0	17554	1066	37	1	1638	1	ZBTB11	3	101383876	Nonsense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	52329619	101383876	96638554	11	22550										
SI	6476	genome.wustl.edu	37	chr3	164709259	164709259	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttgtcctctgacgccaatatCtttgccctggaaatgaaagg	9	10	2	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:164709259C>G	ENST00000264382.3	-	44	5052	c.4990G>C	c.(4990-4992)Gat>Cat	p.D1664H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1664	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D1664Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACGCCAATATCTTTGCCCTGG	0.398										HNSCC(35;0.089)																																							1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											92	83	86					3																	164709259		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4990G>C	3.37:g.164709259C>G	ENSP00000264382:p.Asp1664His		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D1664H	ENST00000264382.3	37	c.4990	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936809	0.34189	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	4.78	4.78	0.61160	.	0.299086	0.36167	N	0.002752	D	0.87402	0.6168	L	0.41906	1.305	0.37671	D	0.923135	B	0.32160	0.358	B	0.36464	0.225	D	0.88689	0.3207	10	0.54805	T	0.06	.	13.3059	0.60352	0.0:0.7302:0.2698:0.0	.	1664	P14410	SUIS_HUMAN	H	1664	ENSP00000264382:D1664H	ENSP00000264382:D1664H	D	-	1	0	SI	166191953	0.454000	0.25728	0.336000	0.25522	0.017000	0.09413	1.003000	0.29809	2.476000	0.83614	0.467000	0.42956	GAT	SI	-	pfam_Glyco_hydro_31		0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164709259	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.827	G	G	164709259	C	G	164709259	3	3	136	1	0	0	0	0	1	0	0	0	14327	913	32	1	513	1	SI	3	164709259	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	63325383	164709259	33313171	12	22551										
ZFYVE28	57732	genome.wustl.edu	37	chr4	2307163	2307163	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	aggcgccagggcagcgggtcCctgcacgtctgcgcggatgg	18	13	1	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:2307163C>A	ENST00000290974.2	-	8	1243	c.904G>T	c.(904-906)Gga>Tga	p.G302*	ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.G272*|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.G232*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	302					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCAGCGGGTCCCTGCACGTCT	0.652																																																	0													43	43	43					4																	2307163		2203	4298	6501	SO:0001587	stop_gained	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.904G>T	4.37:g.2307163C>A	ENSP00000290974:p.Gly302*		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Nonsense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G302*	ENST00000290974.2	37	c.904	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.126286	0.94429	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	.	.	.	5.21	3.44	0.39384	.	1.001670	0.08048	N	0.996239	.	.	.	.	.	.	0.21147	N	0.999779	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.4573	0.38762	0.0:0.7769:0.1448:0.0783	.	.	.	.	X	302;272;232	.	ENSP00000290974:G302X	G	-	1	0	ZFYVE28	2276961	0.083000	0.21467	0.001000	0.08648	0.004000	0.04260	3.815000	0.55651	0.573000	0.29400	0.585000	0.79938	GGA	ZFYVE28	-	NULL		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	C	XM_035371		2307163	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	nonsense	SNP	0.004	A	A	2307163	C	A	2307163	4	1	136	1	0	0	0	0	0	1	0	0	17700	632	22	4	1783	4	ZFYVE28	4	2307163	Nonsense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		2307163	188847113	13	22552										
AASDH	132949	genome.wustl.edu	37	chr4	57237717	57237717	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	taagcagagaggcaccacttGatagagcaagaaatatttcc	9	8	0	4			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:57237717G>A	ENST00000205214.6	-	5	941	c.761C>T	c.(760-762)tCa>tTa	p.S254L	AASDH_ENST00000451613.1_Missense_Mutation_p.S254L|AASDH_ENST00000602986.1_Missense_Mutation_p.S101L|AASDH_ENST00000513376.1_Missense_Mutation_p.S154L|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.S254L|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	254					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGCACCACTTGATAGAGCAAG	0.428																																																	0													117	98	104					4																	57237717		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.761C>T	4.37:g.57237717G>A	ENSP00000205214:p.Ser254Leu		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.S254L	ENST00000205214.6	37	c.761	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650458	0.87958	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.271687	0.36591	N	0.002512	T	0.34890	0.0913	N	0.12920	0.275	0.47949	D	0.99955	P;D;D;P	0.64830	0.824;0.994;0.992;0.951	P;P;P;P	0.58266	0.474;0.836;0.804;0.735	T	0.04885	-1.0920	10	0.05436	T	0.98	-6.1735	18.3527	0.90344	0.0:0.0:1.0:0.0	.	101;254;254;254	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	L	254;154;254;101;254	ENSP00000205214:S254L;ENSP00000423760:S154L;ENSP00000409656:S254L;ENSP00000421171:S254L	ENSP00000205214:S254L	S	-	2	0	AASDH	56932474	1.000000	0.71417	0.972000	0.41901	0.700000	0.40528	6.186000	0.72026	2.424000	0.82194	0.645000	0.84053	TCA	AASDH	-	pfam_AMP-dep_Synth/Lig		0.428	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	G	NM_181806		57237717	-1	no_errors	ENST00000205214	ensembl	human	known	70_37	missense	SNP	0.986	A	A	57237717	G	A	57237717	3	1	136	1	0	0	0	0	1	0	0	0	22	1294	45	1	2579	1	AASDH	4	57237717	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	54930554	57237717	133916559	14	22553										
SEC24B	10427	genome.wustl.edu	37	chr4	110427532	110427532	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ccagtataggaggattgagtCttcagagttctccacaacca	9	10	3	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:110427532C>T	ENST00000265175.5	+	7	1592	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	SEC24B_ENST00000399100.2_Missense_Mutation_p.L478F|SEC24B_ENST00000504968.2_Missense_Mutation_p.L543F	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	513					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGGATTGAGTCTTCAGAGTTC	0.388																																																	0													112	106	108					4																	110427532		1887	4117	6004	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1537C>T	4.37:g.110427532C>T	ENSP00000265175:p.Leu513Phe		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.L513F	ENST00000265175.5	37	c.1537	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966398	0.74131	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.22743	1.94;1.94;1.94	5.67	5.67	0.87782	.	0.128197	0.52532	D	0.000067	T	0.35941	0.0949	L	0.46670	1.46	0.45502	D	0.998462	D;P;D;P;D	0.52996	0.957;0.628;0.957;0.948;0.957	P;P;P;P;P	0.59546	0.729;0.568;0.786;0.859;0.786	T	0.00975	-1.1494	10	0.41790	T	0.15	-21.5589	15.39	0.74735	0.1398:0.8602:0.0:0.0	.	427;112;543;478;513	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	F	543;478;513	ENSP00000428564:L543F;ENSP00000382051:L478F;ENSP00000265175:L513F	ENSP00000265175:L513F	L	+	1	0	SEC24B	110646981	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.168000	0.42424	2.658000	0.90341	0.591000	0.81541	CTT	SEC24B	-	NULL		0.388	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	C			110427532	1	no_errors	ENST00000265175	ensembl	human	known	70_37	missense	SNP	0.994	T	T	110427532	C	T	110427532	3	4	136	1	0	0	0	0	1	0	0	0	14025	913	32	1	1563	1	SEC24B	4	110427532	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	53189815	110427532	80726744	15	22554										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33891856	33891856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttgcctcctgtccgggaagcGaaccgggcctggctgaggct	15	13	0	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr5:33891856G>A	ENST00000504830.1	-	1	441	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.R36C|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R36C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	36					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCGGGAAGCGAACCGGGCCT	0.527										HNSCC(64;0.19)																																							0													108	119	115					5																	33891856		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.106C>T	5.37:g.33891856G>A	ENSP00000422554:p.Arg36Cys		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R36C	ENST00000504830.1	37	c.106	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301176	0.23650	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.60171	0.21;0.22;3.03	5.61	1.0	0.19881	.	0.780519	0.11860	N	0.522484	T	0.42899	0.1223	N	0.19112	0.55	0.09310	N	1	D;P;D	0.60160	0.987;0.853;0.978	P;B;B	0.47705	0.555;0.183;0.249	T	0.26360	-1.0105	10	0.52906	T	0.07	.	4.5032	0.11874	0.0971:0.271:0.494:0.1379	.	36;36;36	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	C	36	ENSP00000422554:R36C;ENSP00000344847:R36C;ENSP00000421638:R36C	ENSP00000344847:R36C	R	-	1	0	ADAMTS12	33927613	0.505000	0.26131	0.012000	0.15200	0.344000	0.29017	1.150000	0.31639	0.263000	0.21812	-0.238000	0.12139	CGC	ADAMTS12	-	NULL		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33891856	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.000	A	A	33891856	G	A	33891856	3	1	136	1	0	0	0	0	1	0	0	0	257	1058	37	1	4774	1	ADAMTS12	5	33891856	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		33891856	147023404	16	22555										
VCAN	1462	genome.wustl.edu	37	chr5	82789643	82789643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	atatcccatccgggctcccaGagtaggctgttatggagata	11	10	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr5:82789643G>C	ENST00000265077.3	+	5	1206	c.641G>C	c.(640-642)aGa>aCa	p.R214T	VCAN_ENST00000342785.4_Missense_Mutation_p.R214T|VCAN_ENST00000512590.2_Missense_Mutation_p.R166T|VCAN_ENST00000343200.5_Missense_Mutation_p.R214T|VCAN_ENST00000513984.1_Missense_Mutation_p.R214T|VCAN_ENST00000502527.2_Missense_Mutation_p.R214T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	214	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGGGCTCCCAGAGTAGGCTGT	0.468																																																	0													125	122	123					5																	82789643		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.641G>C	5.37:g.82789643G>C	ENSP00000265077:p.Arg214Thr		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.R214T	ENST00000265077.3	37	c.641	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958363	0.92726	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.87	5.87	0.94306	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.48286	D	0.000182	T	0.51856	0.1699	M	0.94063	3.49	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.997	T	0.62996	-0.6735	10	0.87932	D	0	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	214;214;214;214;214	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	T	214;214;214;166;214;214;214	ENSP00000265077:R214T;ENSP00000340062:R214T;ENSP00000342768:R214T;ENSP00000425959:R166T;ENSP00000426251:R214T;ENSP00000426715:R214T;ENSP00000421362:R214T	ENSP00000265077:R214T	R	+	2	0	VCAN	82825399	1.000000	0.71417	0.944000	0.38274	0.903000	0.53119	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	AGA	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82789643	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	82789643	G	C	82789643	3	2	136	1	0	0	0	0	1	0	0	0	17169	942	33	1	655	1	VCAN	5	82789643	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	48897787	82789643	98125617	17	22556										
WWC1	23286	genome.wustl.edu	37	chr5	167849048	167849048	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	taagaggaaccagcttgtgaGagaactggaggaagccaccc	13	9	0	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr5:167849048G>A	ENST00000265293.4	+	10	1722	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	WWC1_ENST00000521089.1_Missense_Mutation_p.R407K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	407					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGCTTGTGAGAGAACTGGAG	0.557																																																	0													83	86	85					5																	167849048		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1220G>A	5.37:g.167849048G>A	ENSP00000265293:p.Arg407Lys		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R407K	ENST00000265293.4	37	c.1220	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895512	0.33442	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.39229	1.09;1.09	4.81	4.81	0.61882	.	0.118077	0.53938	D	0.000051	T	0.22742	0.0549	N	0.05330	-0.07	0.36472	D	0.867337	B;B;B;B	0.20671	0.003;0.047;0.047;0.007	B;B;B;B	0.22753	0.015;0.041;0.041;0.015	T	0.19976	-1.0289	10	0.22109	T	0.4	.	11.4164	0.49954	0.0831:0.0:0.9169:0.0	.	407;313;313;407	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	K	407	ENSP00000265293:R407K;ENSP00000427772:R407K	ENSP00000265293:R407K	R	+	2	0	WWC1	167781626	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	2.735000	0.47377	2.223000	0.72356	0.563000	0.77884	AGA	WWC1	-	NULL		0.557	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	G	NM_015238		167849048	1	no_errors	ENST00000265293	ensembl	human	known	70_37	missense	SNP	0.999	A	A	167849048	G	A	167849048	3	1	136	1	0	0	0	0	1	0	0	0	17442	942	33	1	1258	1	WWC1	5	167849048	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	85059405	167849048	13066212	18	22557										
HIST1H1A	3024	genome.wustl.edu	37	chr6	26017563	26017563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgagctttttagatgcacccGttgccttagtttttgtagcc	9	9	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:26017563G>A	ENST00000244573.3	-	1	477	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	133					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						AGATGCACCCGTTGCCTTAGT	0.532																																																	0													108	116	113					6																	26017563		2203	4300	6503	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.398C>T	6.37:g.26017563G>A	ENSP00000244573:p.Thr133Met		Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.T133M	ENST00000244573.3	37	c.398	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	6.811	0.518723	0.13005	.	.	ENSG00000124610	ENST00000244573	T	0.14640	2.49	4.31	3.44	0.39384	.	0.466509	0.22547	N	0.058655	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.39660	0.306	T	0.29518	-1.0009	10	0.62326	D	0.03	-2.4975	12.0011	0.53230	0.0863:0.0:0.9137:0.0	.	133	Q02539	H11_HUMAN	M	133	ENSP00000244573:T133M	ENSP00000244573:T133M	T	-	2	0	HIST1H1A	26125542	0.408000	0.25360	0.001000	0.08648	0.004000	0.04260	3.332000	0.52083	1.108000	0.41662	-0.192000	0.12808	ACG	HIST1H1A	-	NULL		0.532	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	G	NM_005325		26017563	-1	no_errors	ENST00000244573	ensembl	human	known	70_37	missense	SNP	0.030	A	A	26017563	G	A	26017563	3	1	136	1	0	0	0	0	1	0	0	0	7142	1145	40	2	253	2	HIST1H1A	6	26017563	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		26017563	145097504	19	22558										
BRD2	6046	genome.wustl.edu	37	chr6	32943932	32943932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	taagaacagccacaagaaggGggccaagttggcaggtagga	15	7	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:32943932G>A	ENST00000374825.4	+	5	2297	c.596G>A	c.(595-597)gGg>gAg	p.G199E	BRD2_ENST00000443797.2_Missense_Mutation_p.G79E|BRD2_ENST00000449085.2_Missense_Mutation_p.G152E|BRD2_ENST00000395289.2_Missense_Mutation_p.G199E|BRD2_ENST00000395287.1_Missense_Mutation_p.G199E|BRD2_ENST00000374831.4_Missense_Mutation_p.G199E	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	199					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CACAAGAAGGGGGCCAAGTTG	0.453																																																	0													67	64	65					6																	32943932		1510	2708	4218	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.596G>A	6.37:g.32943932G>A	ENSP00000363958:p.Gly199Glu		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G199E	ENST00000374825.4	37	c.596	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.319327|2.319327	0.41096|0.41096	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T;T|T;T	0.08458|0.18338	3.25;3.25;3.24;3.09;3.24;3.24|2.22;3.23	5.74|5.74	4.86|4.86	0.63082|0.63082	.|.	0.000000|0.000000	0.51477|0.51477	D|D	0.000088|0.000088	T|T	0.12732|0.12732	0.0309|0.0309	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.45634|.	0.863;0.668|.	B;B|.	0.40009|.	0.316;0.316|.	T|T	0.03728|0.03728	-1.1009|-1.1009	10|8	0.06757|0.07030	T|T	0.87|0.85	-20.5521|-20.5521	9.9941|9.9941	0.41889|0.41889	0.0903:0.0:0.9097:0.0|0.0903:0.0:0.9097:0.0	.|.	199;199|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	E|R	199;199;199;79;199;152|201;205	ENSP00000363958:G199E;ENSP00000363964:G199E;ENSP00000378704:G199E;ENSP00000413495:G79E;ENSP00000378702:G199E;ENSP00000409145:G152E|ENSP00000411195:G201R;ENSP00000409613:G205R	ENSP00000363958:G199E|ENSP00000409613:G205R	G|G	+|+	2|1	0|0	BRD2|BRD2	33051910|33051910	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.914000|3.914000	0.56401|0.56401	2.873000|2.873000	0.98535|0.98535	0.643000|0.643000	0.83706|0.83706	GGG|GGG	BRD2	-	NULL		0.453	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	G			32943932	1	no_errors	ENST00000395289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32943932	G	A	32943932	3	1	136	1	0	0	0	0	1	0	0	0	1505	1232	43	4	610	4	BRD2	6	32943932	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	6926369	32943932	138171135	20	22559										
ZBTB22	9278	genome.wustl.edu	37	chr6	33283917	33283917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tcgcacagctcatctgcctcCagcagcagctttccagatgt	8	15	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:33283917C>T	ENST00000431845.2	-	2	928	c.777G>A	c.(775-777)ctG>ctA	p.L259L	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L259L|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATCTGCCTCCAGCAGCAGCT	0.647																																																	0													48	44	45					6																	33283917		2203	4300	6503	SO:0001819	synonymous_variant	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.777G>A	6.37:g.33283917C>T			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L259	ENST00000431845.2	37	c.777	CCDS4775.1	6																																																																																			ZBTB22	-	NULL		0.647	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	C			33283917	-1	no_errors	ENST00000418724	ensembl	human	known	70_37	silent	SNP	0.999	T	T	33283917	C	T	33283917	2	4	136	1	0	0	0	0	0	0	0	1	17560	581	21	4		4	ZBTB22	6	33283917	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	339985	33283917	137831150	21	22560										
SNAP91	9892	genome.wustl.edu	37	chr6	84304150	84304150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ggttggggtagctggtgcggCggccccttcggatgctgcag	19	10	0	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:84304150C>T	ENST00000439399.2	-	17	1691	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	SNAP91_ENST00000521743.1_Missense_Mutation_p.A459T|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.A459T|SNAP91_ENST00000195649.6_Missense_Mutation_p.A459T|SNAP91_ENST00000520302.1_Missense_Mutation_p.A457T|SNAP91_ENST00000521485.1_Missense_Mutation_p.A459T|SNAP91_ENST00000369694.2_Missense_Mutation_p.A459T|SNAP91_ENST00000437520.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	459	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTGGTGCGGCGGCCCCTTCG	0.493																																																	0																																										SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1375G>A	6.37:g.84304150C>T	ENSP00000400459:p.Ala459Thr		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A459T	ENST00000439399.2	37	c.1375	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584130	0.46110	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743	T;T;T;T;T;T;T	0.15952	2.41;2.38;2.38;2.41;2.39;2.42;2.38	5.75	1.39	0.22231	.	0.227975	0.43747	N	0.000528	T	0.05731	0.0150	L	0.60455	1.87	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.06405	0.002;0.001;0.002	T	0.24657	-1.0154	10	0.15952	T	0.53	-0.6409	9.5044	0.39037	0.0:0.6749:0.0:0.3251	.	457;459;457	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	T	459;459;459;459;459;457;459	ENSP00000429776:A459T;ENSP00000358708:A459T;ENSP00000400459:A459T;ENSP00000195649:A459T;ENSP00000412492:A459T;ENSP00000428511:A457T;ENSP00000428215:A459T	ENSP00000195649:A459T	A	-	1	0	SNAP91	84360869	0.998000	0.40836	0.992000	0.48379	0.664000	0.39144	0.539000	0.23175	-0.036000	0.13669	0.561000	0.74099	GCC	SNAP91	-	NULL		0.493	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84304150	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84304150	C	T	84304150	3	4	136	1	0	0	0	0	1	0	0	0	14863	768	27	2	1400	2	SNAP91	6	84304150	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	51020233	84304150	86810917	22	22561										
PNPLA8	50640	genome.wustl.edu	37	chr7	108142958	108142958	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gttcctccaccatcaattgaGagaattcggattcctctccc	6	14	2	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr7:108142958G>T	ENST00000422087.1	-	6	1741	c.1335C>A	c.(1333-1335)ctC>ctA	p.L445L	PNPLA8_ENST00000436062.1_Silent_p.L445L|PNPLA8_ENST00000257694.8_Silent_p.L445L|PNPLA8_ENST00000426128.2_Silent_p.L445L|PNPLA8_ENST00000388728.5_Silent_p.L445L|PNPLA8_ENST00000453144.1_Silent_p.L345L|PNPLA8_ENST00000483879.1_5'UTR	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	445	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CATCAATTGAGAGAATTCGGA	0.393																																																	0													118	116	117					7																	108142958		2203	4300	6503	SO:0001819	synonymous_variant	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1335C>A	7.37:g.108142958G>T			A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.L445	ENST00000422087.1	37	c.1335	CCDS34733.1	7																																																																																			PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.393	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	G	NM_015723		108142958	-1	no_errors	ENST00000257694	ensembl	human	known	70_37	silent	SNP	0.807	T	T	108142958	G	T	108142958	2	4	136	1	0	0	0	0	0	0	0	1	12195	929	33	3		3	PNPLA8	7	108142958	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		108142958	50995705	23	22562										
FLNC	2318	genome.wustl.edu	37	chr7	128477264	128477264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ccaaccagcccgtggagaacGcccgggaggccatgcagcag	14	15	0	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr7:128477264G>A	ENST00000325888.8	+	3	913	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FLNC_ENST00000346177.6_Missense_Mutation_p.A218T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	218	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.			A -> S (in Ref. 1; AAD12245 and 2; AAF68195). {ECO:0000305}.	cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGGAGAACGCCCGGGAGGC	0.701																																																	0													12	15	14					7																	128477264		1928	4111	6039	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.652G>A	7.37:g.128477264G>A	ENSP00000327145:p.Ala218Thr		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A218T	ENST00000325888.8	37	c.652	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.786473	0.96937	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.95205	-3.64;-3.64	6.08	6.08	0.98989	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95475	0.8530	L	0.27944	0.81	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.85130	0.997;0.875	D	0.95730	0.8774	10	0.66056	D	0.02	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	218;218	Q14315-2;Q14315	.;FLNC_HUMAN	T	218	ENSP00000327145:A218T;ENSP00000344002:A218T	ENSP00000327145:A218T	A	+	1	0	FLNC	128264500	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCC	FLNC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.701	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128477264	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128477264	G	A	128477264	3	1	136	1	0	0	0	0	1	0	0	0	5953	1087	38	2	662	2	FLNC	7	128477264	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	20334306	128477264	30661399	24	22563										
KIF13B	23303	genome.wustl.edu	37	chr8	28997699	28997699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	catcacctccacgtgcagccGacctgccacctgcagcaatg	8	18	1	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:28997699G>A	ENST00000524189.1	-	21	2532	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W	CTD-2647L4.1_ENST00000523661.1_RNA|RN7SL781P_ENST00000582428.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	832					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACGTGCAGCCGACCTGCCACC	0.542																																																	0													46	48	47					8																	28997699		2183	4282	6465	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2494C>T	8.37:g.28997699G>A	ENSP00000427900:p.Arg832Trp		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R832W	ENST00000524189.1	37	c.2494	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694526	0.68386	.	.	ENSG00000197892	ENST00000524189	T	0.70869	-0.52	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86479	0.1790	10	0.66056	D	0.02	.	18.0586	0.89370	0.0:0.0:1.0:0.0	.	832	F8VPJ2	.	W	832	ENSP00000427900:R832W	ENSP00000427900:R832W	R	-	1	2	KIF13B	29053618	1.000000	0.71417	0.997000	0.53966	0.087000	0.18053	6.057000	0.71119	2.490000	0.84030	0.655000	0.94253	CGG	KIF13B	-	NULL		0.542	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	G			28997699	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28997699	G	A	28997699	3	1	136	1	0	0	0	0	1	0	0	0	8295	1057	37	1	3066	1	KIF13B	8	28997699	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		28997699	117366323	25	22564										
PRKDC	5591	genome.wustl.edu	37	chr8	48855777	48855777	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	aatttgtggtacctgtttcaGaaaggattccagggctgaaa	11	6	1	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:48855777G>C	ENST00000314191.2	-	10	1014	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L320V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	320					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCTGTTTCAGAAAGGATTCC	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													90	87	88					8																	48855777		1847	4095	5942	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.958C>G	8.37:g.48855777G>C	ENSP00000313420:p.Leu320Val		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L320V	ENST00000314191.2	37	c.958		8	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601049	0.66332	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68479	-0.19;-0.33	5.35	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.75554	0.3865	.	.	.	0.80722	D	1	D;P;P	0.54397	0.966;0.943;0.77	P;P;B	0.56216	0.794;0.622;0.333	T	0.77003	-0.2749	9	0.72032	D	0.01	.	11.5343	0.50628	0.1446:0.0:0.8554:0.0	.	320;320;320	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	320	ENSP00000313420:L320V;ENSP00000345182:L320V	ENSP00000313420:L320V	L	-	1	2	PRKDC	49018330	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.450000	0.60041	0.654000	0.30846	-0.136000	0.14681	CTG	PRKDC	-	superfamily_ARM-type_fold		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48855777	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48855777	G	C	48855777	3	2	136	1	0	0	0	0	1	0	0	0	12548	933	33	1	11735	1	PRKDC	8	48855777	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	19858078	48855777	97508245	26	22565										
TP53INP1	94241	genome.wustl.edu	37	chr8	95952425	95952425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ctcctcttcttcttcttcttCtgctgagaaaccagtgcaag	6	13	6	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:95952425C>T	ENST00000342697.4	-	3	543	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	TP53INP1_ENST00000448464.2_Missense_Mutation_p.E46K|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.E46K	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	46	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TCTTCTTCTTCTGCTGAGAAA	0.468																																																	0													99	107	104					8																	95952425		2202	4300	6502	SO:0001583	missense	94241			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.136G>A	8.37:g.95952425C>T	ENSP00000344215:p.Glu46Lys		B2RCE5|Q969R9	Missense_Mutation	SNP	NULL	p.E46K	ENST00000342697.4	37	c.136	CCDS6265.1	8	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254790	0.59212	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.45668	0.89;0.89;0.89	5.65	5.65	0.86999	.	0.403267	0.28268	N	0.015961	T	0.30634	0.0771	L	0.29908	0.895	0.37059	D	0.897982	B;B	0.30361	0.277;0.096	B;B	0.23852	0.049;0.049	T	0.16541	-1.0399	10	0.10902	T	0.67	-34.8654	18.0832	0.89449	0.0:1.0:0.0:0.0	.	46;46	Q96A56-2;Q96A56	.;T53I1_HUMAN	K	46	ENSP00000390063:E46K;ENSP00000344215:E46K;ENSP00000368052:E46K	ENSP00000344215:E46K	E	-	1	0	TP53INP1	96021601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.882000	0.63121	2.941000	0.99782	0.655000	0.94253	GAA	TP53INP1	-	NULL		0.468	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	HGNC	protein_coding	OTTHUMT00000379818.1	C			95952425	-1	no_errors	ENST00000342697	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95952425	C	T	95952425	3	4	136	1	0	0	0	0	1	0	0	0	16419	922	32	1	620	1	TP53INP1	8	95952425	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	47096648	95952425	50411597	27	22566										
SQLE	6713	genome.wustl.edu	37	chr8	126011819	126011819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ggtctcctcgggcgccagcaGagcggctcccagttcgccct	13	17	1	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:126011819G>C	ENST00000265896.5	+	1	1072	c.174G>C	c.(172-174)caG>caC	p.Q58H	RP11-6D1.3_ENST00000523030.1_RNA|SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	58				Q -> R (in Ref. 1; BAA22372). {ECO:0000305}.	cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GGCGCCAGCAGAGCGGCTCCC	0.607																																																	0													39	42	41					8																	126011819		1909	4114	6023	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.174G>C	8.37:g.126011819G>C	ENSP00000265896:p.Gln58His		Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.Q58H	ENST00000265896.5	37	c.174	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	G	9.526	1.109542	0.20714	.	.	ENSG00000104549	ENST00000265896	.	.	.	4.96	0.917	0.19380	.	0.529435	0.19010	N	0.125095	T	0.32041	0.0816	L	0.56769	1.78	0.24406	N	0.994689	B	0.02656	0.0	B	0.04013	0.001	T	0.19516	-1.0303	9	0.35671	T	0.21	0.1809	4.0345	0.09724	0.1458:0.1264:0.5973:0.1305	.	58	Q14534	ERG1_HUMAN	H	58	.	ENSP00000265896:Q58H	Q	+	3	2	SQLE	126081000	0.737000	0.28175	0.170000	0.22879	0.297000	0.27493	0.722000	0.25925	0.117000	0.18138	0.561000	0.74099	CAG	SQLE	-	NULL		0.607	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	G	NM_003129		126011819	1	no_errors	ENST00000265896	ensembl	human	known	70_37	missense	SNP	0.875	C	C	126011819	G	C	126011819	3	2	136	1	0	0	0	0	1	0	0	0	15158	933	33	1	176	1	SQLE	8	126011819	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	30059394	126011819	20352203	28	22567										
FREM1	158326	genome.wustl.edu	37	chr9	14784445	14784445	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cccactacatccatttggctGaagtttgtaatgggaactcc	8	11	0	1	rs370099735	byFrequency	TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr9:14784445G>A	ENST00000380880.3	-	24	5148	c.4365C>T	c.(4363-4365)ttC>ttT	p.F1455F	FREM1_ENST00000380881.4_Silent_p.F1456F|FREM1_ENST00000422223.2_Silent_p.F1455F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1455					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATTTGGCTGAAGTTTGTAA	0.483													G|||	2	0.000399361	0.0015	0	5008	,	,		17503	0		0	False		,,,				2504	0																0								G		4,3852		0,4,1924	103	98	100		4365	2.7	1	9		100	0,8276		0,0,4138	no	coding-synonymous	FREM1	NM_144966.5		0,4,6062	AA,AG,GG		0.0,0.1037,0.033		1455/2180	14784445	4,12128	1928	4138	6066	SO:0001819	synonymous_variant	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4365C>T	9.37:g.14784445G>A			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.F1456	ENST00000380880.3	37	c.4368	CCDS47952.1	9																																																																																			FREM1	-	NULL		0.483	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	G	NM_144966		14784445	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	silent	SNP	1.000	A	A	14784445	G	A	14784445	2	1	136	1	0	0	0	0	0	0	0	1	6062	1281	45	1		1	FREM1	9	14784445	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		14784445	126428986	29	22568										
OR1B1	347169	genome.wustl.edu	37	chr9	125391128	125391128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gaaggcaaacgtagaatagcGgccccaattcggacataaga	11	9	0	2	rs138177065	byFrequency	TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr9:125391128G>A	ENST00000304833.3	-	1	724	c.687C>T	c.(685-687)gcC>gcT	p.A229A	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTAGAATAGCGGCCCCAATTC	0.532																																																	0										2,4404	4.2+/-10.8	0,2,2201	69	68	68		687	1.8	0.3	9	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	OR1B1	NM_001004450.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		229/319	125391128	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.687C>T	9.37:g.125391128G>A			Q6IFN3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A229	ENST00000304833.3	37	c.687	CCDS35126.1	9																																																																																			OR1B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2	G	NM_001004450		125391128	-1	no_errors	ENST00000304833	ensembl	human	novel	70_37	silent	SNP	0.001	A	A	125391128	G	A	125391128	2	1	136	1	0	0	0	0	0	0	0	1	10975	1103	39	2		2	OR1B1	9	125391128	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	110606683	125391128	15822303	30	22569										
PRRX2	51450	genome.wustl.edu	37	chr9	132482886	132482886	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cacccacaggtctggtttcaGaaccgccgcgccaagttccg	10	16	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr9:132482886G>C	ENST00000372469.4	+	3	686	c.459G>C	c.(457-459)caG>caC	p.Q153H	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	153					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				TCTGGTTTCAGAACCGCCGCG	0.652																																																	0													55	62	59					9																	132482886		2203	4300	6503	SO:0001583	missense	51450			AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"Homeoboxes / PRD class"	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.459G>C	9.37:g.132482886G>C	ENSP00000361547:p.Gln153His		Q5SZB5|Q9UIB3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.Q153H	ENST00000372469.4	37	c.459	CCDS6926.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682164|3.682164	0.68042|0.68042	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000372469|ENST00000557730	D|.	0.97688|.	-4.49|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.198038|.	0.44483|.	D|.	0.000460|.	D|D	0.89146|0.89146	0.6632|0.6632	H|H	0.99697|0.99697	4.71|4.71	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	D|.	0.83275|.	0.996|.	D|D	0.91963|0.91963	0.5580|0.5580	10|5	0.87932|.	D|.	0|.	.|.	11.0892|11.0892	0.48106|0.48106	0.0845:0.0:0.9155:0.0|0.0845:0.0:0.9155:0.0	.|.	153|.	Q99811|.	PRRX2_HUMAN|.	H|T	153|68	ENSP00000361547:Q153H|.	ENSP00000361547:Q153H|.	Q|R	+|+	3|2	2|0	PRRX2|PRRX2	131522707|131522707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.587000|3.587000	0.53957|0.53957	2.709000|2.709000	0.92574|0.92574	0.561000|0.561000	0.74099|0.74099	CAG|AGA	PRRX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.652	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX2	HGNC	protein_coding	OTTHUMT00000054598.2	G	NM_016307		132482886	1	no_errors	ENST00000372469	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132482886	G	C	132482886	3	2	136	1	0	0	0	0	1	0	0	0	12640	933	33	1	469	1	PRRX2	9	132482886	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	7091758	132482886	8730545	31	22570										
C10orf79	80217	genome.wustl.edu	37	chr10	105906095	105906095	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tctagatttccgaacagcttCtgaagtctggctctataaca	7	10	4	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr10:105906095C>T	ENST00000357060.3	-	30	3896	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	WDR96_ENST00000428666.1_Intron	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGAACAGCTTCTGAAGTCTGG	0.408																																																	0													118	109	112					10																	105906095		2203	4300	6503	SO:0001583	missense	80217																														ENST00000357060.3:c.3781G>A	10.37:g.105906095C>T	ENSP00000349568:p.Glu1261Lys			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.E1261K	ENST00000357060.3	37	c.3781	CCDS31281.1	10	.	.	.	.	.	.	.	.	.	.	C	5.344	0.248781	0.10130	.	.	ENSG00000197748	ENST00000357060	T	0.17854	2.25	6.07	3.26	0.37387	.	0.631731	0.14811	N	0.297080	T	0.12475	0.0303	L	0.38838	1.175	0.27054	N	0.963712	B	0.30236	0.274	B	0.27887	0.084	T	0.26573	-1.0099	10	0.14656	T	0.56	.	10.3393	0.43868	0.0:0.7864:0.0:0.2136	.	1261	Q8NDM7	WDR96_HUMAN	K	1261	ENSP00000349568:E1261K	ENSP00000349568:E1261K	E	-	1	0	WDR96	105896085	0.031000	0.19500	0.033000	0.17914	0.179000	0.23085	0.188000	0.17018	0.459000	0.27016	0.655000	0.94253	GAA	WDR96	-	NULL		0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		C			105906095	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	0.090	T	T	105906095	C	T	105906095	3	4	136	1	0	0	0	0	1	0	0	0	1622	922	32	1	1252	1	C10orf79	10	105906095	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		105906095	29628652	32	22571										
OR8H2	390151	genome.wustl.edu	37	chr11	55872653	55872653	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	actatgctggggaatgtgggGatgatattgataatccgcct	13	6	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:55872653G>A	ENST00000313503.1	+	1	135	c.135G>A	c.(133-135)ggG>ggA	p.G45G		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGAATGTGGGGATGATATTGA	0.423										HNSCC(53;0.14)																																							0													303	270	281					11																	55872653		2201	4296	6497	SO:0001819	synonymous_variant	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.135G>A	11.37:g.55872653G>A			Q6IFC1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G45	ENST00000313503.1	37	c.135	CCDS31518.1	11																																																																																			OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	G	NM_001005200		55872653	1	no_errors	ENST00000313503	ensembl	human	known	70_37	silent	SNP	0.434	A	A	55872653	G	A	55872653	2	1	136	1	0	0	0	0	0	0	0	1	11262	1161	41	1		1	OR8H2	11	55872653	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		55872653	79133863	33	22572										
TYR	7299	genome.wustl.edu	37	chr11	88911211	88911211	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgtgtctcctctaagaacctGatggagaaggaatgctgtcc	11	9	2	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:88911211G>C	ENST00000263321.5	+	1	592	c.90G>C	c.(88-90)ctG>ctC	p.L30L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	30					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CTAAGAACCTGATGGAGAAGG	0.547																																																	0													78	76	77					11																	88911211		2201	4299	6500	SO:0001819	synonymous_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.90G>C	11.37:g.88911211G>C			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.L30	ENST00000263321.5	37	c.90	CCDS8284.1	11																																																																																			TYR	-	NULL		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	G	NM_000372		88911211	1	no_errors	ENST00000263321	ensembl	human	known	70_37	silent	SNP	0.955	C	C	88911211	G	C	88911211	2	2	136	1	0	0	0	0	0	0	0	1	16844	1277	45	1		1	TYR	11	88911211	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	33038558	88911211	46095305	34	22573										
SPA17	53340	genome.wustl.edu	37	chr11	124564303	124564306	+	Frame_Shift_Del	DEL	AAAT	AAAT	-													0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gaggcaaagaaaatgaaaacAaatagtcttcaaaatgagga							TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	AAAT	AAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:124564303_124564306delAAAT	ENST00000532692.1	+	4	1838_1841	c.417_420delAAAT	c.(415-420)acaaatfs	p.TN139fs	SPA17_ENST00000227135.2_Frame_Shift_Del_p.TN139fs|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	139	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAATGAAAACAAATAGTCTTCAAA	0.392																																																	0																																										SO:0001589	frameshift_variant	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"cancer/testis antigen 22"	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.417_420delAAAT	11.37:g.124564303_124564306delAAAT	ENSP00000432305:p.Thr139fs		B2R4F2|Q9BXF7	Frame_Shift_Del	DEL	pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS	p.N140fs	ENST00000532692.1	37	c.417_420	CCDS8450.1	11																																																																																			SPA17	-	pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS		0.392	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	AAAT	NM_017425		124564306	1	no_errors	ENST00000227135	ensembl	human	putative	70_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000	-	-	124564306	AAAT	-	124564303	7	5	136	1	0	1	0	1	0	0	0	0	15001	117	5	0	431	0	SPA17	11	124564303	Frame_Shift_Del	DEL	AAAT	TCGA-FU-A3YQ-01A-11D-A22X-09	35653092	124564303	10442213	35	22574										
TAS2R42	353164	genome.wustl.edu	37	chr12	11339326	11339326	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tatatgtggtatataaatgtGaagcaagtcccactagaaat	8	5	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:11339326G>A	ENST00000334266.1	-	1	217	c.218C>T	c.(217-219)tCa>tTa	p.S73L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	73					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ATATAAATGTGAAGCAAGTCC	0.413																																					Melanoma(15;352 722 10077 19546 48810)												0													138	128	131					12																	11339326		2203	4300	6503	SO:0001583	missense	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.218C>T	12.37:g.11339326G>A	ENSP00000334050:p.Ser73Leu		A2RRP4|Q645X0	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S73L	ENST00000334266.1	37	c.218	CCDS31747.1	12	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112979	0.20795	.	.	ENSG00000186136	ENST00000334266	T	0.37411	1.2	3.32	-0.823	0.10815	GPCR, rhodopsin-like superfamily (1);	1.529920	0.04348	U	0.355235	T	0.19208	0.0461	N	0.11313	0.125	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.25676	-1.0125	10	0.62326	D	0.03	.	2.6614	0.05028	0.3795:0.0:0.409:0.2115	.	73	Q7RTR8	T2R42_HUMAN	L	73	ENSP00000334050:S73L	ENSP00000334050:S73L	S	-	2	0	TAS2R42	11230593	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.170000	0.09897	-0.046000	0.13446	-0.182000	0.12963	TCA	TAS2R42	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.413	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R42	HGNC	protein_coding	OTTHUMT00000400243.1	G	NM_181429		11339326	-1	no_errors	ENST00000334266	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11339326	G	A	11339326	3	1	136	1	0	0	0	0	1	0	0	0	15610	1294	45	1	730	1	TAS2R42	12	11339326	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		11339326	122512569	36	22575										
C12orf11	55726	genome.wustl.edu	37	chr12	27089604	27089604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	caatgatttagatatgggggCcaaaggaatgattccttggg	13	5	0	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:27089604C>A	ENST00000261191.7	-	2	669	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	FGFR1OP2_ENST00000546072.1_5'Flank|FGFR1OP2_ENST00000229395.3_5'Flank|ASUN_ENST00000539625.1_Intron|FGFR1OP2_ENST00000327214.5_5'Flank	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	45					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GATATGGGGGCCAAAGGAATG	0.398																																																	0													90	93	92					12																	27089604		2203	4300	6503	SO:0001583	missense	55726			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.133G>T	12.37:g.27089604C>A	ENSP00000261191:p.Ala45Ser		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	pfam_Cell_cycle_regulator_Mat89Bb	p.A45S	ENST00000261191.7	37	c.133	CCDS8708.1	12	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747554	0.69533	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.43688	0.94;0.94;0.94	5.51	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.39397	1.21	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.10086	-1.0645	10	0.33141	T	0.24	-3.8853	15.9698	0.80004	0.1361:0.8639:0.0:0.0	.	45	Q9NVM9	M89BB_HUMAN	S	45	ENSP00000261191:A45S;ENSP00000446183:A45S;ENSP00000443066:A45S	ENSP00000261191:A45S	A	-	1	0	C12orf11	26980871	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.708000	0.68377	1.431000	0.47355	0.655000	0.94253	GCC	ASUN	-	pfam_Cell_cycle_regulator_Mat89Bb		0.398	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	HGNC	protein_coding	OTTHUMT00000402819.1	C	NM_018164		27089604	-1	no_errors	ENST00000261191	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27089604	C	A	27089604	3	1	136	1	0	0	0	0	1	0	0	0	1679	739	26	4	2051	4	C12orf11	12	27089604	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	15750278	27089604	106762291	37	22576										
TUBA1B	10376	genome.wustl.edu	37	chr12	49521749	49521749	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	aggaatggataattagtattCctctccttcttcctcaccct	5	12	3	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:49521749C>G	ENST00000336023.5	-	4	1442	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	450					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AATTAGTATTCCTCTCCTTCT	0.463																																																	0													133	136	135					12																	49521749		2203	4300	6503	SO:0001583	missense	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1348G>C	12.37:g.49521749C>G	ENSP00000336799:p.Glu450Gln		P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E450Q	ENST00000336023.5	37	c.1348	CCDS31792.1	12	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264516	0.23136	.	.	ENSG00000123416	ENST00000336023;ENST00000429203	T	0.79554	-1.28	4.83	4.83	0.62350	.	0.000000	0.45606	U	0.000350	D	0.85371	0.5681	M	0.92412	3.305	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	D	0.85426	0.1146	10	0.87932	D	0	.	16.8456	0.85980	0.0:1.0:0.0:0.0	.	450	P68363	TBA1B_HUMAN	Q	450;181	ENSP00000336799:E450Q	ENSP00000336799:E450Q	E	-	1	0	TUBA1B	47808016	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.030000	0.49720	2.524000	0.85096	0.650000	0.86243	GAA	TUBA1B	-	NULL		0.463	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	C	NM_006082		49521749	-1	no_errors	ENST00000336023	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49521749	C	G	49521749	3	3	136	1	0	0	0	0	1	0	0	0	16775	864	30	1	11	1	TUBA1B	12	49521749	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	22432145	49521749	84330146	38	22577										
ANKS1B	56899	genome.wustl.edu	37	chr12	99478734	99478734	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gctggattgcctgtagaattCtttgtctgtgcccagaatta	10	8	2	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:99478734C>G	ENST00000547776.2	-	16	2593	c.2594G>C	c.(2593-2595)aGa>aCa	p.R865T	ANKS1B_ENST00000547446.1_Missense_Mutation_p.R60T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R865T|ANKS1B_ENST00000550693.2_Missense_Mutation_p.R91T|ANKS1B_ENST00000549025.2_Missense_Mutation_p.R34T|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R91T|ANKS1B_ENST00000546568.1_Missense_Mutation_p.R91T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R441T|ANKS1B_ENST00000549558.2_Missense_Mutation_p.R91T|RNA5SP366_ENST00000365454.1_RNA|ANKS1B_ENST00000332712.7_Missense_Mutation_p.R91T|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R91T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	865	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTGTAGAATTCTTTGTCTGTG	0.413																																																	0													91	88	89					12																	99478734		1858	4092	5950	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2594G>C	12.37:g.99478734C>G	ENSP00000449629:p.Arg865Thr		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.R865T	ENST00000547776.2	37	c.2594	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382673|4.382673	0.82792|0.82792	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245	.|T;T;T;T;T;D;T;T;T;T;T	.|0.85013	.|0.53;0.53;0.53;0.53;0.53;-1.93;0.53;0.53;0.53;0.53;0.53	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88683|0.88683	0.6503|0.6503	L|L	0.37800|0.37800	1.135|1.135	0.44719|0.44719	D|D	0.997712|0.997712	.|P;P;P;P;P;P;D;P;P;P;P	.|0.63880	.|0.709;0.832;0.946;0.805;0.703;0.54;0.993;0.846;0.703;0.946;0.544	.|P;P;P;P;P;B;D;P;B;P;B	.|0.77004	.|0.488;0.766;0.752;0.726;0.621;0.389;0.989;0.467;0.285;0.85;0.389	D|D	0.89226|0.89226	0.3574|0.3574	5|10	.|0.56958	.|D	.|0.05	-12.5155|-12.5155	15.8446|15.8446	0.78876|0.78876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|60;91;91;91;79;91;91;34;441;865;91	.|F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	Q|T	137|91;865;441;865;440;91;34;91;60;91;91;27;91;91	.|ENSP00000448993:R91T;ENSP00000449629:R865T;ENSP00000448512:R441T;ENSP00000331381:R865T;ENSP00000447999:R91T;ENSP00000447312:R34T;ENSP00000448203:R91T;ENSP00000450015:R60T;ENSP00000448205:R91T;ENSP00000332683:R91T;ENSP00000447839:R91T	.|ENSP00000331381:R865T	E|R	-|-	1|2	0|0	ANKS1B|ANKS1B	98002865|98002865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	6.318000|6.318000	0.72866|0.72866	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GAA|AGA	ANKS1B	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	C	NM_020140		99478734	-1	no_errors	ENST00000329257	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99478734	C	G	99478734	3	3	136	1	0	0	0	0	1	0	0	0	689	913	32	1	1387	1	ANKS1B	12	99478734	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	49956985	99478734	34373161	39	22578										
VPS29	51699	genome.wustl.edu	37	chr12	110930923	110930923	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	atgtccacatcaaattgcctCtgcaacagggctaagctggc	9	12	2	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:110930923C>G	ENST00000549578.1	-	3	374	c.309G>C	c.(307-309)caG>caC	p.Q103H	VPS29_ENST00000546588.1_Missense_Mutation_p.Q135H|VPS29_ENST00000549970.1_Missense_Mutation_p.Q8H|VPS29_ENST00000447578.2_Missense_Mutation_p.Q8H|VPS29_ENST00000360579.7_Missense_Mutation_p.Q107H|VPS29_ENST00000552130.2_Missense_Mutation_p.Q8H	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	103					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAAATTGCCTCTGCAACAGGG	0.418																																																	0													97	90	92					12																	110930923		1887	4135	6022	SO:0001583	missense	51699			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"vacuolar protein sorting 29 (yeast homolog)", "vacuolar protein sorting 29 (yeast)"			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.309G>C	12.37:g.110930923C>G	ENSP00000447058:p.Gln103His		Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	tigrfam_Phosphodiesterase_MJ0936	p.Q107H	ENST00000549578.1	37	c.321	CCDS41832.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.93|18.93	3.728576|3.728576	0.69074|0.69074	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000360579|ENST00000549578;ENST00000397678;ENST00000552130;ENST00000447578;ENST00000546588;ENST00000549970	.|T;T;T;T;T	.|0.17370	.|2.28;2.31;2.31;2.28;2.31	6.03|6.03	4.0|4.0	0.46444|0.46444	.|Calcineurin-like phosphoesterase superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45256|0.45256	0.1333|0.1333	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;P	.|0.66196	.|0.942;0.903	T|T	0.54132|0.54132	-0.8339|-0.8339	5|10	.|0.52906	.|T	.|0.07	-18.0179|-18.0179	12.1385|12.1385	0.53984|0.53984	0.0:0.8216:0.0:0.1784|0.0:0.8216:0.0:0.1784	.|.	.|103;107	.|Q9UBQ0;Q9UBQ0-2	.|VPS29_HUMAN;.	Q|H	120|103;107;8;8;135;8	.|ENSP00000447058:Q103H;ENSP00000449954:Q8H;ENSP00000400048:Q8H;ENSP00000449044:Q135H;ENSP00000447634:Q8H	.|ENSP00000380795:Q107H	E|Q	-|-	1|3	0|2	VPS29|VPS29	109415306|109415306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.894000|0.894000	0.28350|0.28350	1.567000|1.567000	0.49668|0.49668	0.555000|0.555000	0.69702|0.69702	GAG|CAG	VPS29	-	tigrfam_Phosphodiesterase_MJ0936		0.418	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS29	HGNC	protein_coding	OTTHUMT00000404623.1	C			110930923	-1	no_errors	ENST00000397678	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110930923	C	G	110930923	3	3	136	1	0	0	0	0	1	0	0	0	17231	912	32	1	247	1	VPS29	12	110930923	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	11452189	110930923	22920972	40	22579										
GOLGA3	2802	genome.wustl.edu	37	chr12	133353621	133353621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ctggagctgtgcccgggcctCggccagctctgcttggaact	14	14	1	0	rs375782880		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:133353621C>T	ENST00000450791.2	-	19	3961	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1260K|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1260K			Q08378	GOGA3_HUMAN	golgin A3	1260	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCGGGCCTCGGCCAGCTCT	0.587																																																	0								C	LYS/GLU	0,4406		0,0,2203	55	55	55		3778	5.6	1	12		55	1,8599		0,1,4299	no	missense	GOLGA3	NM_005895.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1260/1499	133353621	1,13005	2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3778G>A	12.37:g.133353621C>T	ENSP00000410378:p.Glu1260Lys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1260K	ENST00000450791.2	37	c.3778	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490475	0.84962	0.0	1.16E-4	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78481	-1.18;-1.18;1.56	5.57	5.57	0.84162	.	0.092218	0.85682	D	0.000000	D	0.85881	0.5800	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63113	0.828;0.911	D	0.84661	0.0706	10	0.41790	T	0.15	.	19.5493	0.95311	0.0:1.0:0.0:0.0	.	1260;1260	Q08378-2;Q08378	.;GOGA3_HUMAN	K	1260	ENSP00000204726:E1260K;ENSP00000410378:E1260K;ENSP00000409303:E1260K	ENSP00000204726:E1260K	E	-	1	0	GOLGA3	131863694	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	7.773000	0.85462	2.621000	0.88768	0.650000	0.86243	GAG	GOLGA3	-	NULL		0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133353621	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133353621	C	T	133353621	3	4	136	1	0	0	0	0	1	0	0	0	6573	893	31	1	738	1	GOLGA3	12	133353621	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	22422698	133353621	498274	41	22580										
PRHOXNB	646625	genome.wustl.edu	37	chr13	28562708	28562708	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgcaatcagaggacatctctCagtggcattcccaaacacat	7	12	3	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr13:28562708C>G	ENST00000332715.5	-	1	83	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	23					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										GGACATCTCTCAGTGGCATTC	0.483																																																	0													107	110	109					13																	28562708		2075	4209	6284	SO:0001583	missense	646625				CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"OHCU decarboxylase"	615804	"parahox cluster neighbor"	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.67G>C	13.37:g.28562708C>G	ENSP00000333490:p.Glu23Gln			Missense_Mutation	SNP	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1	p.E23Q	ENST00000332715.5	37	c.67	CCDS45020.1	13	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870356	0.51588	.	.	ENSG00000183463	ENST00000332715	T	0.57107	0.42	5.29	5.29	0.74685	2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 (1);Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (2);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.92923	3.36	0.25041	N	0.991206	D	0.89917	1.0	D	0.97110	1.0	T	0.74210	-0.3739	10	0.59425	D	0.04	-5.3947	14.4693	0.67504	0.0:1.0:0.0:0.0	.	23	A6NGE7	URAD_HUMAN	Q	23	ENSP00000333490:E23Q	ENSP00000333490:E23Q	E	-	1	0	PRHOXNB	27460708	0.991000	0.36638	0.081000	0.20488	0.341000	0.28922	3.228000	0.51270	2.473000	0.83533	0.655000	0.94253	GAG	PRHOXNB	-	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1		0.483	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRHOXNB	HGNC	protein_coding	OTTHUMT00000472432.1	C			28562708	-1	no_errors	ENST00000332715	ensembl	human	known	70_37	missense	SNP	0.380	G	G	28562708	C	G	28562708	3	3	136	1	0	0	0	0	1	0	0	0	12511	835	29	1	462	1	PRHOXNB	13	28562708	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		28562708	86607170	42	22581										
SLITRK5	26050	genome.wustl.edu	37	chr13	88329623	88329623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gcaggcggaggggcgtcgtcGgtgcccttgtctgtgttaat	17	9	1	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr13:88329623G>A	ENST00000325089.6	+	2	2199	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	SLITRK5_ENST00000400028.3_Silent_p.S419S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	660					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGCGTCGTCGGTGCCCTTGT	0.642																																																	0													111	112	111					13																	88329623		2203	4300	6503	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1980G>A	13.37:g.88329623G>A			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S660	ENST00000325089.6	37	c.1980	CCDS9465.1	13																																																																																			SLITRK5	-	NULL		0.642	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88329623	1	no_errors	ENST00000325089	ensembl	human	known	70_37	silent	SNP	0.200	A	A	88329623	G	A	88329623	2	1	136	1	0	0	0	0	0	0	0	1	14776	1103	39	2		2	SLITRK5	13	88329623	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	59766915	88329623	26840255	43	22582										
ATP10A	57194	genome.wustl.edu	37	chr15	25940070	25940070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ggacggagcggcactgcttgGcaaggaagaggaatttgtcc	16	8	0	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:25940070G>T	ENST00000356865.6	-	14	3095	c.2984C>A	c.(2983-2985)gCc>gAc	p.A995D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	995					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCACTGCTTGGCAAGGAAGAG	0.612																																																	0													85	83	83					15																	25940070		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2984C>A	15.37:g.25940070G>T	ENSP00000349325:p.Ala995Asp		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A995D	ENST00000356865.6	37	c.2984	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.105364	0.94245	.	.	ENSG00000206190	ENST00000356865	D	0.86366	-2.11	5.43	5.43	0.79202	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	H	0.94925	3.6	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.96313	0.9230	10	0.66056	D	0.02	-30.0304	19.2412	0.93883	0.0:0.0:1.0:0.0	.	995	O60312	AT10A_HUMAN	D	995	ENSP00000349325:A995D	ENSP00000349325:A995D	A	-	2	0	ATP10A	23491163	1.000000	0.71417	0.873000	0.34254	0.836000	0.47400	9.534000	0.98061	2.552000	0.86080	0.563000	0.77884	GCC	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25940070	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25940070	G	T	25940070	3	4	136	1	0	0	0	0	1	0	0	0	1117	1203	42	4	1547	4	ATP10A	15	25940070	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		25940070	76591322	44	22583										
SCG5	6447	genome.wustl.edu	37	chr15	32972022	32972022	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tttggcaacatccccaacatCgtggcagagttgactggaga	11	10	0	3	rs529878476		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:32972022C>T	ENST00000300175.4	+	3	392	c.282C>T	c.(280-282)atC>atT	p.I94I	SCG5_ENST00000497208.1_Silent_p.I94I|SCG5_ENST00000494364.1_Silent_p.I94I|SCG5_ENST00000413748.2_Silent_p.I94I|SCG5_ENST00000498069.1_3'UTR	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	94					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TCCCCAACATCGTGGCAGAGT	0.473																																																	0													175	174	174					15																	32972022		1937	4131	6068	SO:0001819	synonymous_variant	6447			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"prohormone convertase chaperone"	173120	"secretory granule, neuroendocrine protein 1 (7B2 protein)"	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.282C>T	15.37:g.32972022C>T			P01164|Q6FHD0|Q9BS38	Silent	SNP	pfam_Secretogranin_V	p.I94	ENST00000300175.4	37	c.282	CCDS45207.1	15																																																																																			SCG5	-	pfam_Secretogranin_V		0.473	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCG5	HGNC	protein_coding	OTTHUMT00000355438.1	C	NM_003020		32972022	1	no_errors	ENST00000300175	ensembl	human	known	70_37	silent	SNP	0.120	T	T	32972022	C	T	32972022	2	4	136	1	0	0	0	0	0	0	0	1	13923	874	31	1		1	SCG5	15	32972022	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	7031952	32972022	69559370	45	22584										
SPTBN5	51332	genome.wustl.edu	37	chr15	42147508	42147508	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ggcgtcgaggagcagggtctCtcgctccagctggtgtagct	16	11	1	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:42147508C>T	ENST00000320955.6	-	55	9564	c.9337G>A	c.(9337-9339)Gag>Aag	p.E3113K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3113					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCAGGGTCTCTCGCTCCAGC	0.692																																																	0													22	27	25					15																	42147508		2048	4179	6227	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9337G>A	15.37:g.42147508C>T	ENSP00000317790:p.Glu3113Lys			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E3113K	ENST00000320955.6	37	c.9337		15	.	.	.	.	.	.	.	.	.	.	.	17.29	3.352836	0.61293	.	.	ENSG00000137877	ENST00000320955	T	0.50001	0.76	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.74222	0.3688	M	0.86420	2.815	0.33346	D	0.570442	D	0.89917	1.0	D	0.83275	0.996	T	0.83111	-0.0123	10	0.62326	D	0.03	.	18.9028	0.92449	0.0:1.0:0.0:0.0	.	3113	Q9NRC6	SPTN5_HUMAN	K	3113	ENSP00000317790:E3113K	ENSP00000317790:E3113K	E	-	1	0	SPTBN5	39934800	0.998000	0.40836	0.451000	0.26982	0.043000	0.13939	4.863000	0.62983	2.447000	0.82792	0.655000	0.94253	GAG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.692	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42147508	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.866	T	T	42147508	C	T	42147508	3	4	136	1	0	0	0	0	1	0	0	0	15152	922	32	1	1743	1	SPTBN5	15	42147508	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	9175486	42147508	60383884	46	22585										
LACTB	114294	genome.wustl.edu	37	chr15	63433478	63433478	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tcatttcttatttccttttaGattttatgtttacaataaaa	2	5	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:63433478G>C	ENST00000261893.4	+	6	1190		c.e6-1		RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTTCCTTTTAGATTTTATGTT	0.338																																					Melanoma(85;443 1381 6215 27308 35583)												0													57	58	58					15																	63433478		2203	4300	6503	SO:0001630	splice_region_variant	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1119-1G>C	15.37:g.63433478G>C			P83096	Splice_Site	SNP	-	e6-1	ENST00000261893.4	37	c.1119-1	CCDS10182.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114590	0.77210	.	.	ENSG00000103642	ENST00000261893	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0467	0.93022	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LACTB	61220531	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.498000	0.97972	2.817000	0.96982	0.563000	0.77884	.	LACTB	-	-		0.338	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	G	NM_032857	Intron	63433478	1	no_errors	ENST00000261893	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	63433478	G	C	63433478	5	2	136	1	0	0	0	0	0	0	1	0	8617	956	33	1	1144	1	LACTB	15	63433478	Splice_Site	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	21285970	63433478	39097914	47	22586										
DET1	55070	genome.wustl.edu	37	chr15	89070930	89070930	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	aaaaaggtcacagaagttctCaaagagctccaaaagctcat	7	9	3	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:89070930C>T	ENST00000268148.8	-	3	1316	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	DET1_ENST00000444300.1_Missense_Mutation_p.E402K|DET1_ENST00000564406.1_Missense_Mutation_p.E402K	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	391						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGAAGTTCTCAAAGAGCTCC	0.448																																																	0													84	83	83					15																	89070930		1915	4127	6042	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1171G>A	15.37:g.89070930C>T	ENSP00000268148:p.Glu391Lys		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.E402K	ENST00000268148.8	37	c.1204	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.280566	0.95489	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.047653	0.85682	D	0.000000	D	0.84361	0.5455	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	D	0.85882	0.1423	9	0.87932	D	0	-22.319	19.2867	0.94077	0.0:1.0:0.0:0.0	.	391;402	Q7L5Y6;B3KNN6	DET1_HUMAN;.	K	402;391	.	ENSP00000268148:E391K	E	-	1	0	DET1	86871934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.416000	0.80143	2.793000	0.96121	0.655000	0.94253	GAG	DET1	-	pfam_De-etiolated_protein_1_Det1		0.448	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	C	NM_017996		89070930	-1	no_errors	ENST00000444300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89070930	C	T	89070930	3	4	136	1	0	0	0	0	1	0	0	0	4460	835	29	1	493	1	DET1	15	89070930	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	25637452	89070930	13460462	48	22587										
VPS33B	26276	genome.wustl.edu	37	chr15	91545319	91545319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cagcttgctcactttactctCcacggctgtgagggtgtccc	10	14	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:91545319C>T	ENST00000333371.3	-	18	1719	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	VPS33B_ENST00000535843.1_Missense_Mutation_p.E365K|VPS33B_ENST00000535906.1_Missense_Mutation_p.E429K	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	456					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACTTTACTCTCCACGGCTGTG	0.587																																																	0													105	83	90					15																	91545319		2198	4298	6496	SO:0001583	missense	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1366G>A	15.37:g.91545319C>T	ENSP00000327650:p.Glu456Lys		B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.E456K	ENST00000333371.3	37	c.1366	CCDS10369.1	15	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975063	0.92919	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.57595	0.39;0.39;0.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	T	0.53373	-0.8448	10	0.05959	T	0.93	-10.7089	19.2714	0.94011	0.0:1.0:0.0:0.0	.	429;456	F5H008;Q9H267	.;VP33B_HUMAN	K	456;429;365;411	ENSP00000327650:E456K;ENSP00000444053:E429K;ENSP00000446267:E365K	ENSP00000327650:E456K	E	-	1	0	VPS33B	89346323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.644000	0.74338	2.884000	0.98904	0.655000	0.94253	GAG	VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like		0.587	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	C	NM_018668		91545319	-1	no_errors	ENST00000333371	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91545319	C	T	91545319	3	4	136	1	0	0	0	0	1	0	0	0	17233	864	30	1	511	1	VPS33B	15	91545319	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	2474389	91545319	10986073	49	22588										
CACNA1H	8912	genome.wustl.edu	37	chr16	1268999	1268999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cctctgtgcactctccgcccGcagagtcctgtgcctccctc	8	20	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:1268999G>A	ENST00000348261.5	+	34	6165	c.5917G>A	c.(5917-5919)Gca>Aca	p.A1973T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1967T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1967T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1973					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCTCCGCCCGCAGAGTCCTG	0.697																																																	0													8	10	9					16																	1268999		1702	3354	5056	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5917G>A	16.37:g.1268999G>A	ENSP00000334198:p.Ala1973Thr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.A1973T	ENST00000348261.5	37	c.5917	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	12.24	1.877853	0.33162	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96774	-4.12;-4.07	4.43	1.36	0.22044	.	.	.	.	.	D	0.88492	0.6451	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33857	0.008;0.429;0.002	B;B;B	0.25140	0.002;0.058;0.002	T	0.79505	-0.1776	9	0.19590	T	0.45	.	3.1815	0.06586	0.1018:0.21:0.5332:0.155	.	719;1967;1973	A2SX38;O95180-2;O95180	.;.;CAC1H_HUMAN	T	1973;1967	ENSP00000334198:A1973T;ENSP00000351401:A1967T	ENSP00000334198:A1973T	A	+	1	0	CACNA1H	1209000	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.087000	0.14958	0.150000	0.19136	0.454000	0.30748	GCA	CACNA1H	-	NULL		0.697	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1268999	1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	0.002	A	A	1268999	G	A	1268999	3	1	136	1	0	0	0	0	1	0	0	0	2550	1087	38	2	6047	2	CACNA1H	16	1268999	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09		1268999	89085754	50	22589										
KIAA0430	9665	genome.wustl.edu	37	chr16	15703466	15703466	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gcactgccggccaaagtggtGatggtaagaagggataaatt	14	6	0	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:15703466G>A	ENST00000396368.3	-	20	4074	c.3868C>T	c.(3868-3870)Cac>Tac	p.H1290Y	KIAA0430_ENST00000551742.1_Missense_Mutation_p.H1290Y|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H1125Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H1287Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.H1287Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H892Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1290	HTH OST-type 5. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAAAGTGGTGATGGTAAGAA	0.413																																																	0													82	80	80					16																	15703466		1881	4119	6000	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3868C>T	16.37:g.15703466G>A	ENSP00000379654:p.His1290Tyr		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H1290Y	ENST00000396368.3	37	c.3868	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808191	0.90707	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.39020	1.185	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.997	D;D;D;D	0.85130	0.991;0.997;0.997;0.995	T	0.57248	-0.7844	10	0.72032	D	0.01	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1289;1287;1286;1289	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	1290;1125;1230;892;1287;1290;1070	ENSP00000379654:H1290Y;ENSP00000439819:H1125Y;ENSP00000341939:H892Y;ENSP00000449376:H1287Y;ENSP00000450309:H1290Y	ENSP00000315718:H1230Y	H	-	1	0	KIAA0430	15610967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.242000	0.95408	2.885000	0.99019	0.655000	0.94253	CAC	KIAA0430	-	NULL		0.413	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15703466	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15703466	G	A	15703466	3	1	136	1	0	0	0	0	1	0	0	0	8197	1290	45	1	1392	1	KIAA0430	16	15703466	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	14434467	15703466	74651287	51	22590			1	99		3	3	3032	G		2.472368e-05
KIAA0430	9665	genome.wustl.edu	37	chr16	15703574	15703574	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgtcctttctatttcatcctGagtgcgttcttttaaaaaaa	5	8	3	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:15703574G>C	ENST00000396368.3	-	20	3966	c.3760C>G	c.(3760-3762)Cag>Gag	p.Q1254E	KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1254E|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q1089E|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1251E|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1251E|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q856E	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1254					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATTTCATCCTGAGTGCGTTCT	0.363																																																	0													63	59	60					16																	15703574		1849	4100	5949	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3760C>G	16.37:g.15703574G>C	ENSP00000379654:p.Gln1254Glu		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.Q1254E	ENST00000396368.3	37	c.3760	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326236	0.41197	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.94	5.94	0.96194	.	0.252622	0.41823	D	0.000815	T	0.40272	0.1110	N	0.08118	0	0.39365	D	0.965986	P;P;P;P	0.42296	0.775;0.769;0.769;0.666	B;B;B;B	0.42282	0.382;0.275;0.275;0.212	T	0.44937	-0.9295	9	0.46703	T	0.11	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	1253;1251;1250;1253	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	E	1254;1089;1194;856;1251;1254;1034	.	ENSP00000315718:Q1194E	Q	-	1	0	KIAA0430	15611075	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.588000	0.60999	2.812000	0.96745	0.557000	0.71058	CAG	KIAA0430	-	NULL		0.363	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15703574	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	0.999	C	C	15703574	G	C	15703574	3	2	136	1	0	0	0	0	1	0	0	0	8197	1299	45	1	1500	1	KIAA0430	16	15703574	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	108	15703574	74651179	52	22591			1	99		3	3	3032	G		2.472368e-05
KIAA0430	9665	genome.wustl.edu	37	chr16	15706497	15706497	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tcggcactgctttgcaaaatGatggtgataggatgggatga	14	5	0	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:15706497G>C	ENST00000396368.3	-	17	3597	c.3391C>G	c.(3391-3393)Cat>Gat	p.H1131D	KIAA0430_ENST00000551742.1_Missense_Mutation_p.H1131D|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H966D|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H1128D|KIAA0430_ENST00000602337.1_Missense_Mutation_p.H1128D|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H733D	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1131	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTGCAAAATGATGGTGATAG	0.478																																																	0													213	212	212					16																	15706497		2019	4210	6229	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3391C>G	16.37:g.15706497G>C	ENSP00000379654:p.His1131Asp		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H1131D	ENST00000396368.3	37	c.3391	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956823	0.92726	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.997	D;D;D;D	0.87578	0.993;0.998;0.998;0.996	T	0.69243	-0.5196	10	0.62326	D	0.03	.	19.2923	0.94105	0.0:0.0:1.0:0.0	.	1130;1128;1127;1130	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	D	1131;966;1071;733;1128;1131;911	ENSP00000379654:H1131D;ENSP00000439819:H966D;ENSP00000341939:H733D;ENSP00000449376:H1128D;ENSP00000450309:H1131D	ENSP00000315718:H1071D	H	-	1	0	KIAA0430	15613998	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	8.951000	0.93025	2.554000	0.86153	0.544000	0.68410	CAT	KIAA0430	-	NULL		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15706497	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15706497	G	C	15706497	3	2	136	1	0	0	0	0	1	0	0	0	8197	1290	45	1	1881	1	KIAA0430	16	15706497	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	2923	15706497	74648256	53	22592			1	99		3	3	3032	G		2.472368e-05
XPO6	23214	genome.wustl.edu	37	chr16	28187269	28187269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gaacatgggccaatcctgacGtccaatatcaacaataactt	6	11	1	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:28187269G>A	ENST00000304658.5	-	4	855	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	XPO6_ENST00000565698.1_Missense_Mutation_p.R105C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	119					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CAATCCTGACGTCCAATATCA	0.393																																																	0													88	81	83					16																	28187269		1873	4105	5978	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.355C>T	16.37:g.28187269G>A	ENSP00000302790:p.Arg119Cys		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R119C	ENST00000304658.5	37	c.355	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427040	0.83667	.	.	ENSG00000169180	ENST00000304658	T	0.43688	0.94	5.42	5.42	0.78866	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.962;0.998	T	0.65936	-0.6047	10	0.87932	D	0	-8.5905	12.0682	0.53601	0.0:0.0:0.828:0.172	.	119;119	B7ZM10;Q96QU8	.;XPO6_HUMAN	C	119	ENSP00000302790:R119C	ENSP00000302790:R119C	R	-	1	0	XPO6	28094770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.362000	0.66098	2.698000	0.92095	0.655000	0.94253	CGT	XPO6	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.393	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	G	XM_055195		28187269	-1	no_errors	ENST00000304658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28187269	G	A	28187269	3	1	136	1	0	0	0	0	1	0	0	0	17479	1145	40	2	3106	2	XPO6	16	28187269	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	12480772	28187269	62167484	54	22593										
VAC14	55697	genome.wustl.edu	37	chr16	70765414	70765414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgacctgatgatgaaagggcCtctgacctccaggagcttcc	11	12	1	5			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:70765414C>T	ENST00000261776.5	-	14	1905	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	549					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ATGAAAGGGCCTCTGACCTCC	0.507																																																	0													118	122	121					16																	70765414		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1645G>A	16.37:g.70765414C>T	ENSP00000261776:p.Gly549Ser		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.G549S	ENST00000261776.5	37	c.1645	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.669299	0.96754	.	.	ENSG00000103043	ENST00000261776	T	0.64260	-0.09	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.83275	0.996;0.896	T	0.78430	-0.2207	10	0.59425	D	0.04	-30.9819	19.9025	0.96993	0.0:1.0:0.0:0.0	.	479;549	B4DMP4;Q08AM6	.;VAC14_HUMAN	S	549	ENSP00000261776:G549S	ENSP00000261776:G549S	G	-	1	0	VAC14	69322915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.409000	0.80053	2.722000	0.93159	0.655000	0.94253	GGC	VAC14	-	pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold		0.507	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70765414	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70765414	C	T	70765414	3	4	136	1	0	0	0	0	1	0	0	0	17142	681	24	4	727	4	VAC14	16	70765414	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	42578145	70765414	19589339	55	22594										
LRRC50	123872	genome.wustl.edu	37	chr16	84203864	84203864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgagaccctgctactgtcacCgcctgtgaaggttaaaggag	12	10	1	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:84203864C>T	ENST00000378553.5	+	8	1554	c.1430C>T	c.(1429-1431)cCg>cTg	p.P477L	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Silent_p.T414T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	477	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CTACTGTCACCGCCTGTGAAG	0.642																																																	0													48	47	47					16																	84203864		2199	4299	6498	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1430C>T	16.37:g.84203864C>T	ENSP00000367815:p.Pro477Leu		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.P477L	ENST00000378553.5	37	c.1430	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	C	2.012	-0.426737	0.04701	.	.	ENSG00000154099	ENST00000378553	T	0.21543	2.0	1.12	-0.0255	0.13935	.	.	.	.	.	T	0.10981	0.0268	N	0.25647	0.755	0.09310	N	0.999999	B;B	0.22604	0.072;0.003	B;B	0.06405	0.002;0.0	T	0.31110	-0.9955	9	0.28530	T	0.3	.	2.8449	0.05540	0.0:0.3612:0.0:0.6388	.	241;477	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	L	477	ENSP00000367815:P477L	ENSP00000367815:P477L	P	+	2	0	DNAAF1	82761365	0.093000	0.21703	0.003000	0.11579	0.002000	0.02628	-0.017000	0.12590	-0.021000	0.14009	0.313000	0.20887	CCG	DNAAF1	-	NULL		0.642	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	C	NM_178452		84203864	1	no_errors	ENST00000378553	ensembl	human	known	70_37	missense	SNP	0.007	T	T	84203864	C	T	84203864	3	4	136	1	0	0	0	0	1	0	0	0	9032	652	23	2	1460	2	LRRC50	16	84203864	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	13438450	84203864	6150889	56	22595										
KIAA0513	9764	genome.wustl.edu	37	chr16	85111196	85111196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tgtcaagggcttcttcggggGgctggagaccaagctgaagg	17	8	2	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:85111196G>A	ENST00000566428.1	+	6	1371	c.740G>A	c.(739-741)gGg>gAg	p.G247E	KIAA0513_ENST00000567328.1_Missense_Mutation_p.G247E|KIAA0513_ENST00000258180.3_Missense_Mutation_p.G247E|KIAA0513_ENST00000538274.1_Missense_Mutation_p.G247E			O60268	K0513_HUMAN	KIAA0513	247						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TTCTTCGGGGGGCTGGAGACC	0.632																																																	0													30	37	35					16																	85111196		2198	4300	6498	SO:0001583	missense	9764			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.740G>A	16.37:g.85111196G>A	ENSP00000457408:p.Gly247Glu		B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.G247E	ENST00000566428.1	37	c.740	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648950	0.87958	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	5.4	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.44697	-0.9311	10	0.51188	T	0.08	-2.7976	12.8285	0.57733	0.0795:0.0:0.9205:0.0	.	247;247	B4DSS5;O60268	.;K0513_HUMAN	E	247	ENSP00000446439:G247E;ENSP00000258180:G247E	ENSP00000258180:G247E	G	+	2	0	KIAA0513	83668697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.716000	0.91420	1.282000	0.44496	0.561000	0.74099	GGG	KIAA0513	-	NULL		0.632	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	G	NM_014732		85111196	1	no_errors	ENST00000258180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85111196	G	A	85111196	3	1	136	1	0	0	0	0	1	0	0	0	8201	1232	43	4	758	4	KIAA0513	16	85111196	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	907332	85111196	5243557	57	22596										
ULK2	9706	genome.wustl.edu	37	chr17	19685287	19685287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cacagcagatgtgcacagctCagggtttcctcccctcatgg	10	14	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:19685287C>G	ENST00000395544.4	-	23	3053	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q	ULK2_ENST00000361658.2_Missense_Mutation_p.E852Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	852	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTGCACAGCTCAGGGTTTCCT	0.567																																																	0													188	129	149					17																	19685287		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2554G>C	17.37:g.19685287C>G	ENSP00000378914:p.Glu852Gln		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E852Q	ENST00000395544.4	37	c.2554	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122287	0.56613	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.42513	0.97;0.97	5.46	5.46	0.80206	Serine/threonine-protein kinase, C-terminal (1);	0.208137	0.50627	D	0.000120	T	0.43986	0.1272	L	0.58101	1.795	0.34686	D	0.725207	B	0.16166	0.016	B	0.17722	0.019	T	0.51076	-0.8751	10	0.40728	T	0.16	-13.5316	18.2989	0.90157	0.0:1.0:0.0:0.0	.	852	Q8IYT8	ULK2_HUMAN	Q	852	ENSP00000354877:E852Q;ENSP00000378914:E852Q	ENSP00000354877:E852Q	E	-	1	0	ULK2	19625879	1.000000	0.71417	0.985000	0.45067	0.837000	0.47467	5.663000	0.68038	2.568000	0.86640	0.585000	0.79938	GAG	ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.567	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	C	NM_014683		19685287	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	missense	SNP	0.998	G	G	19685287	C	G	19685287	3	3	136	1	0	0	0	0	1	0	0	0	17007	835	29	1	576	1	ULK2	17	19685287	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		19685287	61509923	58	22597										
ANKRD13B	124930	genome.wustl.edu	37	chr17	27936291	27936291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	accaagaatatctcctttgaGaggtgggtggacatggcctt	12	8	1	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:27936291G>C	ENST00000394859.3	+	6	907	c.753G>C	c.(751-753)gaG>gaC	p.E251D	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	251						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCTTTGAGAGGTGGGTGG	0.617																																																	0													33	30	31					17																	27936291		2203	4300	6503	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.753G>C	17.37:g.27936291G>C	ENSP00000378328:p.Glu251Asp		Q8N7S9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.E251D	ENST00000394859.3	37	c.753	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.335293	0.95758	.	.	ENSG00000198720	ENST00000394859	T	0.50001	0.76	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.81590	-0.0863	10	0.72032	D	0.01	-30.273	19.2235	0.93808	0.0:0.0:1.0:0.0	.	251	Q86YJ7	AN13B_HUMAN	D	251	ENSP00000378328:E251D	ENSP00000378328:E251D	E	+	3	2	ANKRD13B	24960417	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.710000	0.61873	2.652000	0.90054	0.561000	0.74099	GAG	ANKRD13B	-	pfam_ANKRD13		0.617	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	G	NM_152345		27936291	1	no_errors	ENST00000394859	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27936291	G	C	27936291	3	2	136	1	0	0	0	0	1	0	0	0	642	933	33	1	775	1	ANKRD13B	17	27936291	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	8251004	27936291	53258919	59	22598										
ABI3	51225	genome.wustl.edu	37	chr17	47295176	47295176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ctgtccagcggctgccccccGgccagaaggtcatcgcccca	11	19	1	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:47295176G>A	ENST00000225941.1	+	3	859	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	ABI3_ENST00000419580.2_Missense_Mutation_p.G115S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	121					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GCTGCCCCCCGGCCAGAAGGT	0.597										HNSCC(55;0.14)																																							0													95	94	95					17																	47295176		2203	4300	6503	SO:0001583	missense	51225			AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.361G>A	17.37:g.47295176G>A	ENSP00000225941:p.Gly121Ser		C9IZN8|Q9H0P6	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G121S	ENST00000225941.1	37	c.361	CCDS11546.1	17	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096191	0.20552	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	T;T	0.08458	3.09;3.1	4.92	-2.18	0.07037	Abl-interactor, homeo-domain homologous domain (1);	0.982410	0.08325	N	0.963251	T	0.03095	0.0091	N	0.05078	-0.115	0.09310	N	0.999999	B;B	0.16396	0.014;0.017	B;B	0.15484	0.008;0.013	T	0.46428	-0.9192	10	0.21014	T	0.42	-10.3686	2.6373	0.04961	0.4967:0.123:0.255:0.1254	.	115;121	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	S	121;115	ENSP00000225941:G121S;ENSP00000406651:G115S	ENSP00000225941:G121S	G	+	1	0	ABI3	44650175	0.052000	0.20516	0.775000	0.31657	0.446000	0.32137	0.430000	0.21428	-0.195000	0.10382	0.555000	0.69702	GGC	ABI3	-	pfam_Abl-interactor_HHR_dom		0.597	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	HGNC	protein_coding	OTTHUMT00000364475.1	G	NM_016428		47295176	1	no_errors	ENST00000225941	ensembl	human	known	70_37	missense	SNP	0.018	A	A	47295176	G	A	47295176	3	1	136	1	0	0	0	0	1	0	0	0	90	1116	39	2	371	2	ABI3	17	47295176	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	19358885	47295176	33900034	60	22599										
ELP2	55250	genome.wustl.edu	37	chr18	33750155	33750155	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gcccagtgctccacccttctCaacggtcagtctctgtgtgg	10	15	3	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr18:33750155C>T	ENST00000358232.6	+	20	2269	c.2206C>T	c.(2206-2208)Caa>Taa	p.Q736*	ELP2_ENST00000423854.2_Nonsense_Mutation_p.Q666*|ELP2_ENST00000351393.6_Nonsense_Mutation_p.Q710*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.Q801*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.Q731*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.Q666*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	736					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCACCCTTCTCAACGGTCAGT	0.512																																																	0													136	114	121					18																	33750155		2203	4300	6503	SO:0001587	stop_gained	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2206C>T	18.37:g.33750155C>T	ENSP00000350967:p.Gln736*		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q736*	ENST00000358232.6	37	c.2206	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967917	0.92855	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	4.7	2.71	0.32032	.	0.685163	0.15022	N	0.284941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.0E-4	6.7669	0.23573	0.2186:0.5974:0.1841:0.0	.	.	.	.	X	736;710;801;666;731;666	.	ENSP00000316051:Q731X	Q	+	1	0	ELP2	32004153	0.024000	0.19004	0.084000	0.20598	0.166000	0.22503	0.421000	0.21280	1.177000	0.42855	0.591000	0.81541	CAA	ELP2	-	superfamily_WD40_repeat_dom		0.512	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	C	NM_018255		33750155	1	no_errors	ENST00000358232	ensembl	human	known	70_37	nonsense	SNP	0.255	T	T	33750155	C	T	33750155	4	4	136	1	0	0	0	0	0	1	0	0	5092	827	29	1	2284	1	ELP2	18	33750155	Nonsense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		33750155	44327093	61	22600										
MBD3	53615	genome.wustl.edu	37	chr19	1581162	1581162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttgagccatacgccggggttCttctccacggcggccgagag	14	13	2	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:1581162C>T	ENST00000434436.3	-	5	735	c.606G>A	c.(604-606)aaG>aaA	p.K202K	MBD3_ENST00000585967.1_5'UTR|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_Silent_p.K170K|MBD3_ENST00000590550.2_Silent_p.K146K|MBD3_ENST00000156825.1_Silent_p.K202K|AC005943.4_ENST00000592406.1_RNA	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	202					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGGGTTCTTCTCCACGG	0.652																																																	0													97	74	82					19																	1581162		2203	4300	6503	SO:0001819	synonymous_variant	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.606G>A	19.37:g.1581162C>T			A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.K202	ENST00000434436.3	37	c.606	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold		0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	C	NM_003926		1581162	-1	no_errors	ENST00000156825	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1581162	C	T	1581162	2	4	136	1	0	0	0	0	0	0	0	1	9367	912	32	1		1	MBD3	19	1581162	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		1581162	57547821	62	22601										
NFIC	4782	genome.wustl.edu	37	chr19	3453781	3453781	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ttaaatggaagtggtcagctCaaaatgcccagccactgcct	9	11	2	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:3453781C>G	ENST00000443272.2	+	9	1341	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	NFIC_ENST00000346156.5_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000590282.1_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000589123.1_Silent_p.L421L	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	430					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GTGGTCAGCTCAAAATGCCCA	0.677																																																	0													37	46	43					19																	3453781		2017	4164	6181	SO:0001819	synonymous_variant	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1290C>G	19.37:g.3453781C>G			A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.L430	ENST00000443272.2	37	c.1290	CCDS59330.1	19																																																																																			NFIC	-	pfam_CTF/NFI		0.677	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	C	NM_005597		3453781	1	no_errors	ENST00000443272	ensembl	human	known	70_37	silent	SNP	1.000	G	G	3453781	C	G	3453781	2	3	136	1	0	0	0	0	0	0	0	1	10396	813	29	1		1	NFIC	19	3453781	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	1872619	3453781	55675202	63	22602										
MYO9B	4650	genome.wustl.edu	37	chr19	17312782	17312782	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cccattgagagcttgtttatCgaagccaccgagaagttcag	10	10	1	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:17312782C>G	ENST00000594824.1	+	27	4758	c.4611C>G	c.(4609-4611)atC>atG	p.I1537M	MYO9B_ENST00000397274.2_Missense_Mutation_p.I1537M|MYO9B_ENST00000595618.1_Missense_Mutation_p.I1537M			Q13459	MYO9B_HUMAN	myosin IXB	1537	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTTGTTTATCGAAGCCACCG	0.572																																																	0													76	76	76					19																	17312782		1978	4173	6151	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4611C>G	19.37:g.17312782C>G	ENSP00000471367:p.Ile1537Met		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.I1537M	ENST00000594824.1	37	c.4611		19	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812703	0.32053	.	.	ENSG00000099331	ENST00000397274	D	0.84516	-1.86	4.82	-0.284	0.12870	.	0.245896	0.28301	N	0.015843	D	0.85605	0.5735	L	0.51422	1.61	0.30017	N	0.814671	D;D;D;D	0.64830	0.977;0.994;0.977;0.989	P;P;P;P	0.61275	0.687;0.886;0.687;0.772	T	0.80360	-0.1415	10	0.51188	T	0.08	.	7.6483	0.28334	0.0:0.4359:0.0:0.5641	.	1537;1537;1537;1543	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	M	1537	ENSP00000380444:I1537M	ENSP00000380444:I1537M	I	+	3	3	MYO9B	17173782	0.032000	0.19561	0.999000	0.59377	0.376000	0.30014	-0.699000	0.05087	0.101000	0.17610	-0.339000	0.08088	ATC	MYO9B	-	NULL		0.572	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	C			17312782	1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17312782	C	G	17312782	3	3	136	1	0	0	0	0	1	0	0	0	10108	874	31	1	4713	1	MYO9B	19	17312782	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	13859001	17312782	41816201	64	22603										
NPAS1	4861	genome.wustl.edu	37	chr19	47548507	47548507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	gcggagaacgaggccccccaGacccagggcaaacgcatcaa	12	15	1	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:47548507G>A	ENST00000602212.1	+	12	1591	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	NPAS1_ENST00000602189.1_Silent_p.Q282Q|NPAS1_ENST00000449844.2_Silent_p.Q457Q|NPAS1_ENST00000439365.2_3'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	457					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AGGCCCCCCAGACCCAGGGCA	0.672																																																	0													39	44	42					19																	47548507		2200	4300	6500	SO:0001819	synonymous_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.1371G>A	19.37:g.47548507G>A			B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.Q457	ENST00000602212.1	37	c.1371	CCDS12694.1	19																																																																																			NPAS1	-	NULL		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	G	NM_002517		47548507	1	no_errors	ENST00000449844	ensembl	human	known	70_37	silent	SNP	0.511	A	A	47548507	G	A	47548507	2	1	136	1	0	0	0	0	0	0	0	1	10586	933	33	1		1	NPAS1	19	47548507	Silent	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	30235725	47548507	11580476	65	22604										
MZF1	7593	genome.wustl.edu	37	chr19	59081860	59081860	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tggagggctccatcttctctGataggacctcctggccctgc	11	14	2	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:59081860G>A	ENST00000215057.2	-	3	991	c.431C>T	c.(430-432)tCa>tTa	p.S144L	MZF1_ENST00000594234.1_Missense_Mutation_p.S144L|MZF1_ENST00000599369.1_Missense_Mutation_p.S144L|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.S144L|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CATCTTCTCTGATAGGACCTC	0.592																																																	0													76	66	70					19																	59081860		2203	4300	6503	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.431C>T	19.37:g.59081860G>A	ENSP00000215057:p.Ser144Leu		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S144L	ENST00000215057.2	37	c.431	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	21.5	4.158853	0.78226	.	.	ENSG00000099326	ENST00000215057	T	0.07444	3.19	4.99	3.95	0.45737	Transcription regulator SCAN (1);	0.264416	0.20238	N	0.096350	T	0.03783	0.0107	N	0.08118	0	0.33343	D	0.570076	P;B	0.43094	0.799;0.027	B;B	0.36845	0.234;0.012	T	0.40997	-0.9533	9	.	.	.	-9.1748	9.0841	0.36570	0.0989:0.0:0.9011:0.0	.	144;144	Q7Z729;P28698	.;MZF1_HUMAN	L	144	ENSP00000215057:S144L	.	S	-	2	0	MZF1	63773672	0.000000	0.05858	0.968000	0.41197	0.997000	0.91878	0.569000	0.23638	1.462000	0.47948	0.655000	0.94253	TCA	MZF1	-	smart_Tscrpt_reg_SCAN		0.592	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	G	NM_198055		59081860	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.949	A	A	59081860	G	A	59081860	3	1	136	1	0	0	0	0	1	0	0	0	10131	1294	45	1	1789	1	MZF1	19	59081860	Missense_Mutation	SNP	G	TCGA-FU-A3YQ-01A-11D-A22X-09	11533353	59081860	47123	66	22605										
GGT7	2686	genome.wustl.edu	37	chr20	33437774	33437774	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	ctgcactcactgtccacctgCaggaggttggactgcaggtc	12	13	1	0			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr20:33437774C>A	ENST00000336431.5	-	14	1859	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	605					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGTCCACCTGCAGGAGGTTGG	0.632																																																	0													28	31	30					20																	33437774		1933	4133	6066	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1815G>T	20.37:g.33437774C>A			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.L605	ENST00000336431.5	37	c.1815	CCDS13242.2	20																																																																																			GGT7	-	pfam_GGT_peptidase		0.632	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	C	NM_178026		33437774	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	silent	SNP	1.000	A	A	33437774	C	A	33437774	2	1	136	1	0	0	0	0	0	0	0	1	6383	697	25	4		4	GGT7	20	33437774	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		33437774	29587746	67	22606										
CEP250	11190	genome.wustl.edu	37	chr20	34079140	34079140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	aacaactggaacgactgaggCaggacatgaaagtccagaaa	11	8	0	3			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr20:34079140C>T	ENST00000397527.1	+	22	3577	c.2857C>T	c.(2857-2859)Cag>Tag	p.Q953*	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q897*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	953	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACGACTGAGGCAGGACATGAA	0.527																																																	0													67	55	59					20																	34079140		2203	4300	6503	SO:0001587	stop_gained	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2857C>T	20.37:g.34079140C>T	ENSP00000380661:p.Gln953*		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q953*	ENST00000397527.1	37	c.2857	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	C	47	13.230503	0.99728	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	.	.	.	4.76	4.76	0.60689	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.6187	0.68569	0.0:1.0:0.0:0.0	.	.	.	.	X	953;897	.	ENSP00000341541:Q897X	Q	+	1	0	CEP250	33542554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.688000	0.46984	2.494000	0.84150	0.455000	0.32223	CAG	CEP250	-	NULL		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	C	NM_007186		34079140	1	no_errors	ENST00000397527	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	34079140	C	T	34079140	4	4	136	1	0	0	0	0	0	1	0	0	3257	711	25	4	2931	4	CEP250	20	34079140	Nonsense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	641366	34079140	28946380	68	22607										
MMP11	4320	genome.wustl.edu	37	chr22	24121514	24121514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	cctccccgctgtggcgtgccCgacccatctgatgggctgag	13	16	1	2	rs144178537		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:24121514C>T	ENST00000215743.3	+	2	301	c.249C>T	c.(247-249)ccC>ccT	p.P83P	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	83					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GTGGCGTGCCCGACCCATCTG	0.697																																																	0								C		1,4405		0,1,2202	19	20	20		249	-0.6	1	22	dbSNP_134	20	0,8600		0,0,4300	no	coding-synonymous	MMP11	NM_005940.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		83/489	24121514	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.249C>T	22.37:g.24121514C>T			Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.P83	ENST00000215743.3	37	c.249	CCDS13816.1	22																																																																																			MMP11	-	pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.697	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	C	NM_005940		24121514	1	no_errors	ENST00000215743	ensembl	human	known	70_37	silent	SNP	0.961	T	T	24121514	C	T	24121514	2	4	136	1	0	0	0	0	0	0	0	1	9673	639	23	2		2	MMP11	22	24121514	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09		24121514	27183052	69	22608										
TBC1D10A	83874	genome.wustl.edu	37	chr22	30688730	30688730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	aagatagccttggcaccatgCagcctgggcggggagcggca	16	11	0	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:30688730C>T	ENST00000215790.7	-	9	1325	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L	TBC1D10A_ENST00000403362.1_Silent_p.L299L|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.L394L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	387					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGCACCATGCAGCCTGGGCG	0.662																																																	0													32	37	35					22																	30688730		2203	4300	6503	SO:0001819	synonymous_variant	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1161G>A	22.37:g.30688730C>T			B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L387	ENST00000215790.7	37	c.1161	CCDS13874.1	22																																																																																			TBC1D10A	-	NULL		0.662	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	C	NM_031937		30688730	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30688730	C	T	30688730	2	4	136	1	0	0	0	0	0	0	0	1	15628	697	25	4		4	TBC1D10A	22	30688730	Silent	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	6567216	30688730	20615836	70	22609										
DEPDC5	9681	genome.wustl.edu	37	chr22	32242914	32242914	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	agtggggaagaagggaacctCagctctctctgccctgttgg	14	10	3	1			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:32242914C>A	ENST00000382112.3	+	30	3159	c.3089C>A	c.(3088-3090)tCa>tAa	p.S1030*	DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.S961*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.S1030*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.S1039*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.S961*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.S1039*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.S1030*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.S1039*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1039					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGGAACCTCAGCTCTCTCT	0.552																																																	0													76	79	78					22																	32242914		2017	4179	6196	SO:0001587	stop_gained	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3089C>A	22.37:g.32242914C>A	ENSP00000371546:p.Ser1030*		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.S1039*	ENST00000382112.3	37	c.3116	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	C	41	8.894388	0.98994	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.31	4.28	0.50868	.	0.068833	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7376	0.69427	0.1459:0.8541:0.0:0.0	.	.	.	.	X	961;1039;1030;961;1039;961;1030;1039;1030	.	ENSP00000266091:S1039X	S	+	2	0	DEPDC5	30572914	1.000000	0.71417	0.980000	0.43619	0.290000	0.27261	7.084000	0.76866	1.370000	0.46153	-0.187000	0.12897	TCA	DEPDC5	-	NULL		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	C	NM_014662		32242914	1	no_errors	ENST00000266091	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	32242914	C	A	32242914	4	1	136	1	0	0	0	0	0	1	0	0	4452	838	29	3	3225	3	DEPDC5	22	32242914	Nonsense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	1554184	32242914	19061652	71	22610										
RPL3	6122	genome.wustl.edu	37	chr22	39709277	39709277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.513888888888889	37	4.60075728269977e-15	4.26506566604128	6.77909407665505	3.06518847006652	1	1	28	tcaatgaacttaaggtcaatCttctccagagcccgccgctt	7	13	4	2			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:39709277C>G	ENST00000216146.4	-	9	1259	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N	SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.K310N|RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	362					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TAAGGTCAATCTTCTCCAGAG	0.547																																																	0													32	31	31					22																	39709277		2203	4298	6501	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1086G>C	22.37:g.39709277C>G	ENSP00000346001:p.Lys362Asn		B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.K362N	ENST00000216146.4	37	c.1086	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693287	0.48202	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.43294	0.95;0.95	5.22	4.2	0.49525	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.61387	1.9	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12156	0.007;0.002;0.003	T	0.27971	-1.0058	10	0.35671	T	0.21	.	13.7456	0.62872	0.0:0.9253:0.0:0.0747	.	310;362;313	G5E9G0;P39023;B3KS36	.;RL3_HUMAN;.	N	310;362	ENSP00000386101:K310N;ENSP00000346001:K362N	ENSP00000346001:K362N	K	-	3	2	RPL3	38039223	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.025000	0.57225	1.217000	0.43442	-0.379000	0.06801	AAG	RPL3	-	superfamily_Transl_elong_init/rib_B-barrel		0.547	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	C	NM_000967		39709277	-1	no_errors	ENST00000216146	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39709277	C	G	39709277	3	3	136	1	0	0	0	0	1	0	0	0	13609	912	32	1	133	1	RPL3	22	39709277	Missense_Mutation	SNP	C	TCGA-FU-A3YQ-01A-11D-A22X-09	7466363	39709277	11595289	72	22611										
TP73	7161	genome.wustl.edu	37	chr1	3638614	3638614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctcttgaagaaactctactgCcagatcgccaagacatgccc	7	14	2	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:3638614C>T	ENST00000378295.4	+	5	614	c.459C>T	c.(457-459)tgC>tgT	p.C153C	TP73_ENST00000378285.1_Silent_p.C104C|TP73_ENST00000603362.1_Silent_p.C153C|TP73_ENST00000378290.4_Silent_p.C82C|TP73_ENST00000604074.1_Silent_p.C153C|TP73_ENST00000378280.1_Silent_p.C104C|TP73_ENST00000378288.4_Silent_p.C104C|TP73_ENST00000354437.4_Silent_p.C153C|TP73_ENST00000357733.3_Silent_p.C153C|TP73_ENST00000346387.4_Silent_p.C153C|TP73_ENST00000604479.1_Silent_p.C153C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	153	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AACTCTACTGCCAGATCGCCA	0.627																																																	0													120	110	113					1																	3638614		2203	4300	6503	SO:0001819	synonymous_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.459C>T	1.37:g.3638614C>T			B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.C153	ENST00000378295.4	37	c.459	CCDS49.1	1																																																																																			TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.627	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3638614	1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3638614	C	T	3638614	2	4	137	1	0	0	0	0	0	0	0	1	16424	747	26	4		4	TP73	1	3638614	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		3638614	245612007	1	22612										
HCRTR1	3061	genome.wustl.edu	37	chr1	32090632	32090632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tccgccaagccagtgaccgcGaagctgtctacgcctgcttc	10	16	1	1	rs201416198		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:32090632G>A	ENST00000373706.5	+	6	1153	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Missense_Mutation_p.E334K|HCRTR1_ENST00000373705.1_Missense_Mutation_p.E334K			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	334					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CAGTGACCGCGAAGCTGTCTA	0.602																																																	0													102	85	91					1																	32090632		2203	4300	6503	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.1000G>A	1.37:g.32090632G>A	ENSP00000362810:p.Glu334Lys		A8K3A6|Q9HBV6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt	p.E334K	ENST00000373706.5	37	c.1000	CCDS344.1	1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086357	0.55861	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.36699	1.24;1.24;1.24	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.054725	0.64402	D	0.000001	T	0.25975	0.0633	L	0.43598	1.365	0.45806	D	0.998681	B;P	0.43314	0.386;0.803	B;B	0.34722	0.103;0.188	T	0.09997	-1.0649	10	0.06494	T	0.89	.	16.4941	0.84223	0.0:0.0:1.0:0.0	.	334;334	A6NMV7;O43613	.;OX1R_HUMAN	K	334	ENSP00000384387:E334K;ENSP00000362810:E334K;ENSP00000362809:E334K	ENSP00000362809:E334K	E	+	1	0	HCRTR1	31863219	1.000000	0.71417	0.945000	0.38365	0.482000	0.33219	5.860000	0.69546	2.677000	0.91161	0.561000	0.74099	GAA	HCRTR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt		0.602	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR1	HGNC	protein_coding	OTTHUMT00000011042.1	G	NM_001525		32090632	1	no_errors	ENST00000373706	ensembl	human	known	70_37	missense	SNP	0.998	A	A	32090632	G	A	32090632	3	1	137	1	0	0	0	0	1	0	0	0	7021	1059	37	1	1022	1	HCRTR1	1	32090632	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	28452018	32090632	217159989	2	22613										
PHC2	1912	genome.wustl.edu	37	chr1	33837992	33837992	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgctgctgggcggcgtacatCtgctgcaggtactgagcggc	16	11	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:33837992C>G	ENST00000257118.5	-	2	284	c.231G>C	c.(229-231)caG>caC	p.Q77H	PHC2_ENST00000431992.1_Missense_Mutation_p.Q77H|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.Q77H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	77	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGGCGTACATCTGCTGCAGGT	0.677																																																	0													29	29	29					1																	33837992		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.231G>C	1.37:g.33837992C>G	ENSP00000257118:p.Gln77His		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.Q77H	ENST00000257118.5	37	c.231	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958699	0.92726	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.76578	-0.38;-1.03;-0.56	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	M	0.79123	2.44	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.87578	0.998;0.995;0.986	D	0.89558	0.3804	10	0.87932	D	0	-12.0192	15.8807	0.79201	0.0:1.0:0.0:0.0	.	77;77;77	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	H	77	ENSP00000389436:Q77H;ENSP00000257118:Q77H;ENSP00000391440:Q77H	ENSP00000257118:Q77H	Q	-	3	2	PHC2	33610579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.905000	0.69893	2.326000	0.78906	0.655000	0.94253	CAG	PHC2	-	NULL		0.677	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	C	NM_198040		33837992	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33837992	C	G	33837992	3	3	137	1	0	0	0	0	1	0	0	0	11841	912	32	1	2397	1	PHC2	1	33837992	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1747360	33837992	215412629	3	22614										
KIAA0754	643314	genome.wustl.edu	37	chr1	39877564	39877564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	attgtggatattttaataccCtggattcttctcaggtgcct	8	8	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:39877564C>T	ENST00000530275.1	+	1	1414	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	407										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTAATACCCTGGATTCTTC	0.408																																																	0													96	94	94					1																	39877564		1876	4115	5991	SO:0001819	synonymous_variant	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1219C>T	1.37:g.39877564C>T			E9PMC2|Q6ZSB2	Silent	SNP	NULL	p.L407	ENST00000530275.1	37	c.1219		1																																																																																			KIAA0754	-	NULL		0.408	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39877564	1	no_errors	ENST00000530275	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39877564	C	T	39877564	2	4	137	1	0	0	0	0	0	0	0	1	8212	680	24	4		4	KIAA0754	1	39877564	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	6039572	39877564	209373057	4	22615										
ZCCHC11	23318	genome.wustl.edu	37	chr1	52926879	52926879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctgcataagtagctagcattCttgtgttatgttgagcctga	10	7	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:52926879C>G	ENST00000371544.3	-	19	3510	c.3248G>C	c.(3247-3249)aGa>aCa	p.R1083T	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1083T|ZCCHC11_ENST00000371541.1_5'Flank	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1083					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCTAGCATTCTTGTGTTATG	0.289																																																	0													101	100	100					1																	52926879		2203	4294	6497	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3248G>C	1.37:g.52926879C>G	ENSP00000360599:p.Arg1083Thr		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R1083T	ENST00000371544.3	37	c.3248	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615528	0.87359	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.83275	0.877;0.996	T	0.70781	-0.4779	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	842;1083	E9PKX1;Q5TAX3	.;TUT4_HUMAN	T	1083;1083;1012;842	ENSP00000257177:R1083T;ENSP00000360599:R1083T;ENSP00000433486:R1012T;ENSP00000435256:R842T	ENSP00000257177:R1083T	R	-	2	0	ZCCHC11	52699467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.873000	0.98535	0.563000	0.77884	AGA	ZCCHC11	-	NULL		0.289	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	C	XM_038288		52926879	-1	no_errors	ENST00000257177	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52926879	C	G	52926879	3	3	137	1	0	0	0	0	1	0	0	0	17610	913	32	1	1737	1	ZCCHC11	1	52926879	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	13049315	52926879	196323742	5	22616										
DAB1	1600	genome.wustl.edu	37	chr1	57481088	57481088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cagaaggacgggaggacagcGcccattgcaacgtaacctgg	14	11	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:57481088G>A	ENST00000371231.1	-	13	1045	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	DAB1_ENST00000439789.2_Silent_p.G218G|DAB1_ENST00000420954.2_Silent_p.G302G|DAB1_ENST00000414851.2_Silent_p.G286G|DAB1_ENST00000371236.2_Silent_p.G304G|DAB1_ENST00000371234.4_Silent_p.G304G|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	337					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.G304G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGAGGACAGCGCCCATTGCAA	0.572																																																	1	Substitution - coding silent(1)	ovary(1)											24	26	25					1																	57481088		2199	4289	6488	SO:0001819	synonymous_variant	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1011C>T	1.37:g.57481088G>A			A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.G337	ENST00000371231.1	37	c.1011		1																																																																																			DAB1	-	NULL		0.572	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	G	NM_021080		57481088	-1	no_errors	ENST00000371231	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57481088	G	A	57481088	2	1	137	1	0	0	0	0	0	0	0	1	4222	1074	38	2		2	DAB1	1	57481088	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	4554209	57481088	191769533	6	22617										
ANGPTL3	27329	genome.wustl.edu	37	chr1	63066839	63066839	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	actactccctttcttcagttGaatgaaataagaaatgtaaa	5	7	2	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:63066839G>C	ENST00000371129.3	+	3	773	c.693G>C	c.(691-693)ttG>ttC	p.L231F	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	231					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TTCTTCAGTTGAATGAAATAA	0.358																																																	0													78	76	76					1																	63066839		2203	4297	6500	SO:0001583	missense	27329			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"Fibrinogen C domain containing"	491	protein-coding gene	gene with protein product	"angiopoietin 5"	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.693G>C	1.37:g.63066839G>C	ENSP00000360170:p.Leu231Phe		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L231F	ENST00000371129.3	37	c.693	CCDS622.1	1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.395429	0.01175	.	.	ENSG00000132855	ENST00000371129	T	0.54866	0.55	5.46	-1.32	0.09201	.	1.390710	0.04957	N	0.461375	T	0.12178	0.0296	N	0.17082	0.46	0.09310	N	1	B	0.20887	0.049	B	0.11329	0.006	T	0.12993	-1.0526	10	0.37606	T	0.19	.	0.9947	0.01464	0.1736:0.2886:0.27:0.2678	.	231	Q9Y5C1	ANGL3_HUMAN	F	231	ENSP00000360170:L231F	ENSP00000360170:L231F	L	+	3	2	ANGPTL3	62839427	0.068000	0.21057	0.005000	0.12908	0.092000	0.18411	0.004000	0.13106	0.012000	0.14892	0.591000	0.81541	TTG	ANGPTL3	-	NULL		0.358	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL3	HGNC	protein_coding	OTTHUMT00000025344.1	G	NM_014495		63066839	1	no_errors	ENST00000371129	ensembl	human	known	70_37	missense	SNP	0.000	C	C	63066839	G	C	63066839	3	2	137	1	0	0	0	0	1	0	0	0	615	1281	45	1	703	1	ANGPTL3	1	63066839	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	5585751	63066839	186183782	7	22618										
VAV3	10451	genome.wustl.edu	37	chr1	108116734	108116734	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgtgtaaatcttcaccacatCtcctttcaacaaggacaact	4	12	4	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:108116734C>G	ENST00000370056.4	-	26	2711	c.2437G>C	c.(2437-2439)Gat>Cat	p.D813H	VAV3_ENST00000415432.2_Missense_Mutation_p.D253H|VAV3_ENST00000527011.1_Missense_Mutation_p.D841H|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.D217H	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	813	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTCACCACATCTCCTTTCAAC	0.463																																																	0													270	238	249					1																	108116734		2203	4300	6503	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2437G>C	1.37:g.108116734C>G	ENSP00000359073:p.Asp813His		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.D813H	ENST00000370056.4	37	c.2437	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.141463	0.94560	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.93	5.93	0.95920	Src homology-3 domain (4);Variant SH3 (1);	0.041303	0.85682	D	0.000000	T	0.48537	0.1505	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.993;0.971;0.998;0.995	T	0.52313	-0.8592	10	0.72032	D	0.01	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	841;245;813;253	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	H	813;841;217;253	ENSP00000359073:D813H;ENSP00000432540:D841H;ENSP00000446404:D217H;ENSP00000394897:D253H	ENSP00000359073:D813H	D	-	1	0	VAV3	107918257	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	GAT	VAV3	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.463	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	C	NM_006113		108116734	-1	no_errors	ENST00000370056	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108116734	C	G	108116734	3	3	137	1	0	0	0	0	1	0	0	0	17164	913	32	1	114	1	VAV3	1	108116734	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	45049895	108116734	141133887	8	22619										
STXBP3	6814	genome.wustl.edu	37	chr1	109299362	109299362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctgtcagacaaatgaaagctCtttatttcatcactccgaca	5	11	4	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:109299362C>T	ENST00000370008.3	+	4	282	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	78	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AATGAAAGCTCTTTATTTCAT	0.294																																																	0													41	43	42					1																	109299362		2202	4292	6494	SO:0001583	missense	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.232C>T	1.37:g.109299362C>T	ENSP00000359025:p.Leu78Phe		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L78F	ENST00000370008.3	37	c.232	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325786	0.60743	.	.	ENSG00000116266	ENST00000370008	T	0.81415	-1.49	5.86	4.93	0.64822	.	0.109304	0.64402	D	0.000014	T	0.74884	0.3775	L	0.38175	1.15	0.34099	D	0.661658	D	0.56287	0.975	P	0.56088	0.791	T	0.79885	-0.1614	10	0.87932	D	0	-8.8575	12.3858	0.55330	0.4164:0.5836:0.0:0.0	.	78	O00186	STXB3_HUMAN	F	78	ENSP00000359025:L78F	ENSP00000359025:L78F	L	+	1	0	STXBP3	109100885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.796000	0.47869	1.433000	0.47394	0.591000	0.81541	CTT	STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like		0.294	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	C	NM_007269		109299362	1	no_errors	ENST00000370008	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109299362	C	T	109299362	3	4	137	1	0	0	0	0	1	0	0	0	15384	913	32	1	246	1	STXBP3	1	109299362	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1182628	109299362	139951259	9	22620										
NGF	4803	genome.wustl.edu	37	chr1	115828996	115828996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ggtcttatccccaacccacaCgctgacactgtcacacaccg	6	18	2	1	rs199511298		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:115828996C>T	ENST00000369512.2	-	3	589	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	141					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCAACCCACACGCTGACACTG	0.537																																																	0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	113	96	102		421	2.1	1	1		102	0,8600		0,0,4300	no	missense	NGF	NM_002506.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	141/242	115828996	1,13005	2203	4300	6503	SO:0001583	missense	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.421G>A	1.37:g.115828996C>T	ENSP00000358525:p.Val141Met		A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.V141M	ENST00000369512.2	37	c.421	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	C	0.936	-0.710954	0.03230	2.27E-4	0.0	ENSG00000134259	ENST00000369512	T	0.77877	-1.13	5.14	2.07	0.26955	Nerve growth factor-related (5);	0.330696	0.32518	N	0.005998	T	0.34164	0.0888	L	0.34521	1.04	0.31842	N	0.623372	B	0.33073	0.396	B	0.25884	0.064	T	0.30822	-0.9965	10	0.05620	T	0.96	-12.1745	7.233	0.26053	0.0:0.6036:0.0:0.3964	.	141	P01138	NGF_HUMAN	M	141	ENSP00000358525:V141M	ENSP00000358525:V141M	V	-	1	0	NGF	115630519	0.958000	0.32768	1.000000	0.80357	0.983000	0.72400	0.084000	0.14891	0.593000	0.29745	0.313000	0.20887	GTG	NGF	-	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel		0.537	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	C	NM_002506		115828996	-1	no_errors	ENST00000369512	ensembl	human	known	70_37	missense	SNP	0.996	T	T	115828996	C	T	115828996	3	4	137	1	0	0	0	0	1	0	0	0	10419	536	19	2	308	2	NGF	1	115828996	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	6529634	115828996	133421625	10	22621										
PLEKHO1	51177	genome.wustl.edu	37	chr1	150131110	150131110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cctcttgtgctgagagctttCgggttgacctggacaagtct	12	10	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:150131110C>T	ENST00000369124.4	+	6	900	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R25W|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R174W|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	208	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGAGCTTTCGGGTTGACCT	0.612																																																	0													74	74	74					1																	150131110		2203	4300	6503	SO:0001583	missense	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.622C>T	1.37:g.150131110C>T	ENSP00000358120:p.Arg208Trp		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R208W	ENST00000369124.4	37	c.622	CCDS945.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831276	0.71258	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.55413	0.53;0.52	4.97	4.06	0.47325	.	0.220091	0.42420	D	0.000709	T	0.58264	0.2110	M	0.64997	1.995	0.48395	D	0.999649	D	0.89917	1.0	D	0.69654	0.965	T	0.64655	-0.6356	10	0.87932	D	0	-29.1076	11.9311	0.52847	0.3156:0.6844:0.0:0.0	.	208	Q53GL0	PKHO1_HUMAN	W	25;174;208;88	ENSP00000025469:R174W;ENSP00000358120:R208W	ENSP00000025469:R174W	R	+	1	2	PLEKHO1	148397734	0.990000	0.36364	0.996000	0.52242	0.996000	0.88848	2.898000	0.48672	1.298000	0.44778	0.655000	0.94253	CGG	PLEKHO1	-	NULL		0.612	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	C	NM_016274		150131110	1	no_errors	ENST00000369124	ensembl	human	known	70_37	missense	SNP	0.997	T	T	150131110	C	T	150131110	3	4	137	1	0	0	0	0	1	0	0	0	12108	875	31	1	644	1	PLEKHO1	1	150131110	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	34302114	150131110	99119511	11	22622										
TCHH	7062	genome.wustl.edu	37	chr1	152085168	152085169	+	Missense_Mutation	DNP	CC	CC	AA													0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcttgccattcttgcctttgCcgccacagctcctcgtcgcg							TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:152085168_152085169CC>AA	ENST00000368804.1	-	2	523_524	c.524_525GG>TT	c.(523-525)cGG>cTT	p.R175L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	175					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTTTGCCGCCACAGCTC	0.579																																																	0																																										SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.524_525delinsAA	1.37:g.152085168_152085169delinsAA	ENSP00000357794:p.Arg175Leu		Q5VUI3	Silent|Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R175|p.R175L	ENST00000368804.1	37	c.525|c.524	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.579	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152085168|152085169	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent|missense	SNP	0.282|0.069	A	AA	152085169	CC	AA	152085168	3	1	137	1	0	0	0	0	1	0	0	0	15730	726	26	4	5310	4	TCHH	1	152085168	Missense_Mutation	DNP	CC	TCGA-FU-A40J-01A-11D-A243-09	1954058	152085168	97165453	12	22623										
DCST1	149095	genome.wustl.edu	37	chr1	155014220	155014220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccaggccatactcagctgccGtcgttggtttgaccgcaagc	11	14	1	1	rs373581735		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:155014220G>T	ENST00000295542.1	+	8	875	c.779G>T	c.(778-780)cGt>cTt	p.R260L	DCST1_ENST00000392480.1_Missense_Mutation_p.R260L|DCST1_ENST00000368419.2_Missense_Mutation_p.R260L|DCST1_ENST00000423025.2_Missense_Mutation_p.R235L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	260						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTCAGCTGCCGTCGTTGGTTT	0.547																																																	0													167	130	143					1																	155014220		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.779G>T	1.37:g.155014220G>T	ENSP00000295542:p.Arg260Leu		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.R260L	ENST00000295542.1	37	c.779	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227333	0.39399	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-0.169	0.13339	.	1.087950	0.07251	N	0.865872	T	0.19846	0.0477	L	0.47716	1.5	0.09310	N	0.999995	B;P;B	0.36944	0.304;0.574;0.304	B;B;B	0.29353	0.048;0.101;0.048	T	0.11542	-1.0583	10	0.10377	T	0.69	-1.1913	8.2315	0.31601	0.5628:0.0:0.4372:0.0	.	235;285;260	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	L	260;260;235;260	ENSP00000295542:R260L;ENSP00000376271:R260L;ENSP00000387369:R235L;ENSP00000357404:R260L	ENSP00000295542:R260L	R	+	2	0	DCST1	153280844	0.000000	0.05858	0.390000	0.26220	0.990000	0.78478	-1.024000	0.03603	-0.062000	0.13088	0.563000	0.77884	CGT	DCST1	-	NULL		0.547	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	G	NM_152494		155014220	1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	0.065	T	T	155014220	G	T	155014220	3	4	137	1	0	0	0	0	1	0	0	0	4307	1145	40	2	805	2	DCST1	1	155014220	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	2929052	155014220	94236401	13	22624										
FCRL5	83416	genome.wustl.edu	37	chr1	157494309	157494309	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccccaccacagcctgggcccTgggagccctgaaggtgagga	14	15	0	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:157494309T>A	ENST00000361835.3	-	10	2156	c.1999A>T	c.(1999-2001)Agg>Tgg	p.R667W	FCRL5_ENST00000368191.3_Missense_Mutation_p.R582W|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Missense_Mutation_p.R667W|FCRL5_ENST00000368190.3_Missense_Mutation_p.R667W	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	667	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCTGGGCCCTGGGAGCCCTG	0.517																																																	0													47	52	50					1																	157494309		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1999A>T	1.37:g.157494309T>A	ENSP00000354691:p.Arg667Trp		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R667W	ENST00000361835.3	37	c.1999	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436310	0.62955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03152	4.03;4.03;4.03;4.03	4.69	-8.86	0.00795	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07638	0.0192	M	0.89534	3.04	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.985;0.991	D;D;D;D	0.76071	0.987;0.987;0.945;0.965	T	0.00936	-1.1508	9	0.48119	T	0.1	.	9.6755	0.40039	0.0:0.4774:0.3697:0.1529	.	582;667;667;667	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	W	667;667;667;582	ENSP00000354691:R667W;ENSP00000349434:R667W;ENSP00000357173:R667W;ENSP00000357174:R582W	ENSP00000349434:R667W	R	-	1	2	FCRL5	155760933	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-1.426000	0.02443	-1.436000	0.01970	-0.406000	0.06334	AGG	FCRL5	-	smart_Ig_sub,pfscan_Ig-like		0.517	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	T	NM_031281		157494309	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	missense	SNP	0.000	A	A	157494309	T	A	157494309	3	1	137	1	0	0	0	0	1	0	0	0	5816	1579	55	5	966	5	FCRL5	1	157494309	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	2480089	157494309	91756312	14	22625										
SPTA1	6708	genome.wustl.edu	37	chr1	158606546	158606546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gggagctcactcgtatcaacTtctccctaaaatcaaggaag	8	11	4	0	rs370558180		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:158606546T>G	ENST00000368147.4	-	37	5375	c.5195A>C	c.(5194-5196)aAg>aCg	p.K1732T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1732					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCGTATCAACTTCTCCCTAAA	0.473																																																	0								T	THR/LYS	0,3748		0,0,1874	105	102	103		5195	4	0.9	1		103	1,8227		0,1,4113	no	missense	SPTA1	NM_003126.2	78	0,1,5987	GG,GT,TT		0.0122,0.0,0.0084	probably-damaging	1732/2420	158606546	1,11975	1874	4114	5988	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5195A>C	1.37:g.158606546T>G	ENSP00000357129:p.Lys1732Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K1732T	ENST00000368147.4	37	c.5195	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414143	0.42817	0.0	1.22E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	5.13	4.01	0.46588	.	.	.	.	.	T	0.63803	0.2542	M	0.85542	2.76	0.47153	D	0.999339	D	0.89917	1.0	D	0.97110	1.0	T	0.68202	-0.5471	9	0.56958	D	0.05	.	8.5503	0.33447	0.0:0.0879:0.0:0.9121	.	1732	P02549	SPTA1_HUMAN	T	1732	ENSP00000357130:K1732T;ENSP00000357129:K1732T	ENSP00000357129:K1732T	K	-	2	0	SPTA1	156873170	1.000000	0.71417	0.861000	0.33841	0.006000	0.05464	5.309000	0.65774	0.987000	0.38709	0.454000	0.30748	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	T	NM_003126		158606546	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	1.000	G	G	158606546	T	G	158606546	3	3	137	1	0	0	0	0	1	0	0	0	15146	1609	56	5	2128	5	SPTA1	1	158606546	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	1112237	158606546	90644075	15	22626										
MYOC	4653	genome.wustl.edu	37	chr1	171605176	171605176	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctgctgtacttatagcggttCttgaatgggatggtcagggt	14	6	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:171605176C>T	ENST00000037502.6	-	3	1475	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	468	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATAGCGGTTCTTGAATGGGA	0.488																																																	0													213	186	195					1																	171605176		2203	4300	6503	SO:0001819	synonymous_variant	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1404G>A	1.37:g.171605176C>T			B2RD84|O00620|Q7Z6Q9	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.K468	ENST00000037502.6	37	c.1404	CCDS1297.1	1																																																																																			MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.488	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171605176	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	silent	SNP	1.000	T	T	171605176	C	T	171605176	2	4	137	1	0	0	0	0	0	0	0	1	10109	912	32	1		1	MYOC	1	171605176	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	12998630	171605176	77645445	16	22627										
TPR	7175	genome.wustl.edu	37	chr1	186292841	186292841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aactggtggtcccaactcctGaggtggggcatgaatggtca	14	9	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:186292841G>C	ENST00000367478.4	-	43	6570	c.6274C>G	c.(6274-6276)Cag>Gag	p.Q2092E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2092					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCCAACTCCTGAGGTGGGGCA	0.473			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													129	132	131					1																	186292841		1898	4132	6030	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6274C>G	1.37:g.186292841G>C	ENSP00000356448:p.Gln2092Glu		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q2092E	ENST00000367478.4	37	c.6274	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373625	0.82573	.	.	ENSG00000047410	ENST00000367478	T	0.23147	1.92	5.36	5.36	0.76844	.	0.122293	0.56097	D	0.000025	T	0.29190	0.0726	M	0.62723	1.935	0.39831	D	0.972973	P	0.42409	0.779	B	0.38755	0.281	T	0.10382	-1.0632	10	0.16896	T	0.51	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	2092	P12270	TPR_HUMAN	E	2092	ENSP00000356448:Q2092E	ENSP00000356448:Q2092E	Q	-	1	0	TPR	184559464	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.344000	0.65981	2.673000	0.90976	0.650000	0.86243	CAG	TPR	-	NULL		0.473	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186292841	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	0.998	C	C	186292841	G	C	186292841	3	2	137	1	0	0	0	0	1	0	0	0	16447	1299	45	1	853	1	TPR	1	186292841	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	14687665	186292841	62957780	17	22628										
ASPM	259266	genome.wustl.edu	37	chr1	197071695	197071695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	acctttgaaattgtatgtttCtttctttcattgcccagtat	5	8	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:197071695C>G	ENST00000367409.4	-	18	6942	c.6686G>C	c.(6685-6687)aGa>aCa	p.R2229T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2229					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATGTTTCTTTCTTTCAT	0.303																																																	0													97	98	98					1																	197071695		2203	4296	6499	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6686G>C	1.37:g.197071695C>G	ENSP00000356379:p.Arg2229Thr		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2229T	ENST00000367409.4	37	c.6686	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	12.93	2.083981	0.36758	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.58940	0.3	5.17	5.17	0.71159	.	0.149903	0.45867	D	0.000329	T	0.74696	0.3750	M	0.78637	2.42	0.80722	D	1	B;D	0.69078	0.369;0.997	B;D	0.66196	0.101;0.942	T	0.70769	-0.4782	10	0.20046	T	0.44	.	19.0334	0.92967	0.0:1.0:0.0:0.0	.	215;2229	E7EQ84;Q8IZT6	.;ASPM_HUMAN	T	2229;215	ENSP00000356379:R2229T	ENSP00000356376:R215T	R	-	2	0	ASPM	195338318	0.009000	0.17119	0.543000	0.28128	0.133000	0.20885	1.691000	0.37721	2.576000	0.86940	0.639000	0.83563	AGA	ASPM	-	superfamily_ARM-type_fold		0.303	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197071695	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.798	G	G	197071695	C	G	197071695	3	3	137	1	0	0	0	0	1	0	0	0	1057	913	32	1	3791	1	ASPM	1	197071695	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	10778854	197071695	52178926	18	22629										
OBSCN	84033	genome.wustl.edu	37	chr1	228400470	228400470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctctgtgctggtcgtagtgcGcggtgagctcctgggtgcgg	18	10	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:228400470G>A	ENST00000422127.1	+	2	1030	c.986G>A	c.(985-987)cGc>cAc	p.R329H	OBSCN_ENST00000570156.2_Missense_Mutation_p.R329H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R329H|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	329					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCGTAGTGCGCGGTGAGCTC	0.682																																																	0													9	11	10					1																	228400470		1981	4113	6094	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.986G>A	1.37:g.228400470G>A	ENSP00000409493:p.Arg329His		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R329H	ENST00000422127.1	37	c.986	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437595	0.43224	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.05081	3.5;3.5	4.91	3.99	0.46301	Immunoglobulin-like fold (1);	1.172130	0.06782	N	0.785401	T	0.05547	0.0146	L	0.46157	1.445	0.80722	D	1	P;P	0.38167	0.487;0.621	B;B	0.24006	0.023;0.05	T	0.39461	-0.9613	10	0.39692	T	0.17	-1.5022	3.6634	0.08246	0.2049:0.0:0.5852:0.2099	.	329;329	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	329	ENSP00000284548:R329H;ENSP00000409493:R329H	ENSP00000284548:R329H	R	+	2	0	OBSCN	226467093	1.000000	0.71417	0.997000	0.53966	0.704000	0.40688	4.207000	0.58480	1.041000	0.40125	0.643000	0.83706	CGC	OBSCN	-	smart_Ig_sub		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228400470	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228400470	G	A	228400470	3	1	137	1	0	0	0	0	1	0	0	0	10836	1087	38	2	988	2	OBSCN	1	228400470	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	31328775	228400470	20850151	19	22630										
WDR64	128025	genome.wustl.edu	37	chr1	241875110	241875110	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttgtgttttccaggcctgtCagagagttttccatgccaag	10	9	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:241875110C>G	ENST00000366552.2	+	8	1158	c.951C>G	c.(949-951)gtC>gtG	p.V317V	WDR64_ENST00000437684.2_Silent_p.V317V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	317										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCAGGCCTGTCAGAGAGTTTT	0.368																																																	0													118	110	112					1																	241875110		2203	4300	6503	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.951C>G	1.37:g.241875110C>G			B1ANT0|Q7Z573|Q96LY9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V317	ENST00000366552.2	37	c.951		1																																																																																			WDR64	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.368	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		C	NM_144625		241875110	1	no_errors	ENST00000366552	ensembl	human	known	70_37	silent	SNP	1.000	G	G	241875110	C	G	241875110	2	3	137	1	0	0	0	0	0	0	0	1	17346	813	29	1		1	WDR64	1	241875110	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	13474640	241875110	7375511	20	22631										
SDCCAG8	10806	genome.wustl.edu	37	chr1	243652402	243652402	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gaaccagcttctcctggagaGgcagagcctgtcggaagagg	15	10	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:243652402G>C	ENST00000366541.3	+	17	2190	c.2072G>C	c.(2071-2073)aGg>aCg	p.R691T	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R648T|AKT3_ENST00000336199.5_Intron|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R546T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	691	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTCCTGGAGAGGCAGAGCCTG	0.622																																																	0													27	29	28					1																	243652402		2203	4299	6502	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.2072G>C	1.37:g.243652402G>C	ENSP00000355499:p.Arg691Thr		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.R691T	ENST00000366541.3	37	c.2072	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279064	0.80692	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.73789	-0.53;-0.78;-0.75;0.2	5.63	4.72	0.59763	.	0.057860	0.64402	D	0.000003	T	0.70579	0.3240	L	0.29908	0.895	0.80722	D	1	P;P	0.51351	0.728;0.944	P;P	0.52957	0.447;0.714	T	0.66630	-0.5875	10	0.23302	T	0.38	-1.9467	11.9789	0.53109	0.0817:0.0:0.9183:0.0	.	648;691	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	T	648;691;546;392	ENSP00000348137:R648T;ENSP00000355499:R691T;ENSP00000341260:R546T;ENSP00000410200:R392T	ENSP00000341260:R546T	R	+	2	0	SDCCAG8	241719025	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.317000	0.65822	1.368000	0.46115	0.650000	0.86243	AGG	SDCCAG8	-	NULL		0.622	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	G	NM_006642		243652402	1	no_errors	ENST00000366541	ensembl	human	known	70_37	missense	SNP	1.000	C	C	243652402	G	C	243652402	3	2	137	1	0	0	0	0	1	0	0	0	13989	1000	35	4	2138	4	SDCCAG8	1	243652402	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1777292	243652402	5598219	21	22632										
OR2T27	403239	genome.wustl.edu	37	chr1	248813636	248813636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgtgcaggagagcttcagaaGggcaggcacctcgcagaaga	15	10	1	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr1:248813636G>T	ENST00000344889.3	-	1	549	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTTCAGAAGGGCAGGCACC	0.552																																																	0													21	8	12					1																	248813636		2135	4050	6185	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.550C>A	1.37:g.248813636G>T	ENSP00000342008:p.Leu184Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L184I	ENST00000344889.3	37	c.550	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	2.045	-0.419186	0.04766	.	.	ENSG00000187701	ENST00000344889	T	0.00069	8.77	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32258	N	0.006350	T	0.00178	0.0005	L	0.56396	1.775	0.09310	N	1	B	0.22983	0.078	B	0.30716	0.119	T	0.21759	-1.0236	10	0.51188	T	0.08	.	10.7042	0.45946	0.0:0.1964:0.8036:0.0	.	184	Q8NH04	O2T27_HUMAN	I	184	ENSP00000342008:L184I	ENSP00000342008:L184I	L	-	1	0	OR2T27	246880259	0.000000	0.05858	0.822000	0.32727	0.014000	0.08584	-0.514000	0.06298	1.854000	0.53819	0.194000	0.17425	CTT	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.552	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	G	NM_001001824		248813636	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.002	T	T	248813636	G	T	248813636	3	4	137	1	0	0	0	0	1	0	0	0	11045	1000	35	4	406	4	OR2T27	1	248813636	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	5161234	248813636	436985	22	22633										
TMEM18	129787	genome.wustl.edu	37	chr2	669621	669621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttcttttcctttcttctctCttgtgcattcttcaggtcag	5	11	7	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:669621C>G	ENST00000281017.3	-	5	475	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TMEM18_ENST00000405941.3_Missense_Mutation_p.E131Q|TMEM18_ENST00000355654.2_Missense_Mutation_p.E115Q	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	128	DNA-binding.				cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		tttcttctctcttGTGCATTC	0.448																																																	0													139	131	133					2																	669621		2203	4300	6503	SO:0001583	missense	129787			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.382G>C	2.37:g.669621C>G	ENSP00000281017:p.Glu128Gln		D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	NULL	p.E128Q	ENST00000281017.3	37	c.382	CCDS33141.1	2	.	.	.	.	.	.	.	.	.	.	C	8.739	0.918421	0.17982	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.13	-2.57	0.06248	.	0.338290	0.30820	N	0.008802	T	0.21881	0.0527	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.20306	-1.0279	9	0.33940	T	0.23	-13.366	13.796	0.63171	0.1181:0.2025:0.6794:0.0	.	128	Q96B42	TMM18_HUMAN	Q	128;115;131	.	ENSP00000281017:E128Q	E	-	1	0	TMEM18	659621	0.912000	0.30974	0.000000	0.03702	0.006000	0.05464	1.256000	0.32921	-0.089000	0.12484	-0.324000	0.08512	GAG	TMEM18	-	NULL		0.448	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM18	HGNC	protein_coding	OTTHUMT00000322427.1	C	NM_152834		669621	-1	no_errors	ENST00000281017	ensembl	human	known	70_37	missense	SNP	0.000	G	G	669621	C	G	669621	3	3	137	1	0	0	0	0	1	0	0	0	16128	922	32	1	44	1	TMEM18	2	669621	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		669621	242529752	23	22634										
CAD	790	genome.wustl.edu	37	chr2	27466321	27466321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atccccgcgcagcctacttcCgccaggctgagaacggcatg	11	16	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:27466321C>T	ENST00000403525.1	+	43	6568	c.6424C>T	c.(6424-6426)Cgc>Tgc	p.R2142C	CAD_ENST00000264705.4_Missense_Mutation_p.R2205C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCTACTTCCGCCAGGCTGA	0.542																																																	0													39	38	38					2																	27466321		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6424C>T	2.37:g.27466321C>T	ENSP00000384510:p.Arg2142Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.R2205C	ENST00000403525.1	37	c.6613		2	.	.	.	.	.	.	.	.	.	.	C	32	5.113229	0.94339	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99098	-5.42;-5.42	5.13	5.13	0.70059	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.98063	1.0394	10	0.87932	D	0	-2.294	17.3083	0.87201	0.0:1.0:0.0:0.0	.	2142;2205	F8VPD4;P27708	.;PYR1_HUMAN	C	2205;2142	ENSP00000264705:R2205C;ENSP00000384510:R2142C	ENSP00000264705:R2205C	R	+	1	0	CAD	27319825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.885000	0.63142	2.659000	0.90383	0.561000	0.74099	CGC	CAD	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf		0.542	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27466321	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27466321	C	T	27466321	3	4	137	1	0	0	0	0	1	0	0	0	2570	652	23	2	6787	2	CAD	2	27466321	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	26796700	27466321	215733052	24	22635										
PPM1G	5496	genome.wustl.edu	37	chr2	27607771	27607771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccattttcttgtgaaggagtTtccctagttgagtcctcagg	10	9	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:27607771T>G	ENST00000344034.4	-	5	858	c.594A>C	c.(592-594)gaA>gaC	p.E198D	PPM1G_ENST00000350803.4_Missense_Mutation_p.E198D	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	198					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTGAAGGAGTTTCCCTAGTTG	0.597																																																	0													175	159	165					2																	27607771		2203	4300	6503	SO:0001583	missense	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.594A>C	2.37:g.27607771T>G	ENSP00000342778:p.Glu198Asp			Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E198D	ENST00000344034.4	37	c.594	CCDS1752.1	2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586033	0.28268	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.43294	0.95;0.95	5.75	4.6	0.57074	Protein phosphatase 2C-like (3);	0.557967	0.18265	N	0.146500	T	0.23451	0.0567	N	0.16478	0.41	0.30887	N	0.73076	B	0.28470	0.213	B	0.23419	0.046	T	0.14420	-1.0473	10	0.13108	T	0.6	-4.9645	10.1664	0.42882	0.0:0.0785:0.0:0.9215	.	198	O15355	PPM1G_HUMAN	D	198;198;181	ENSP00000342778:E198D;ENSP00000264714:E198D	ENSP00000342778:E198D	E	-	3	2	PPM1G	27461275	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.618000	0.36954	2.202000	0.70862	0.533000	0.62120	GAA	PPM1G	-	superfamily_PP2C-like,smart_PP2C-like		0.597	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1G	HGNC	protein_coding	OTTHUMT00000215032.1	T	NM_002707		27607771	-1	no_errors	ENST00000344034	ensembl	human	known	70_37	missense	SNP	0.993	G	G	27607771	T	G	27607771	3	3	137	1	0	0	0	0	1	0	0	0	12367	1838	64	5	1070	5	PPM1G	2	27607771	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	141450	27607771	215591602	25	22636										
EHBP1	23301	genome.wustl.edu	37	chr2	63101602	63101602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cggctccaccagtcctctcaCcaaaaacaggagtattaaat	6	13	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:63101602C>T	ENST00000263991.5	+	11	1707	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	EHBP1_ENST00000431489.1_Missense_Mutation_p.P374S|EHBP1_ENST00000405289.1_Missense_Mutation_p.P374S|EHBP1_ENST00000405015.3_Missense_Mutation_p.P374S|EHBP1_ENST00000354487.3_Missense_Mutation_p.P374S	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	409						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGTCCTCTCACCAAAAACAGG	0.373																																																	0													98	110	106					2																	63101602		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1225C>T	2.37:g.63101602C>T	ENSP00000263991:p.Pro409Ser		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P409S	ENST00000263991.5	37	c.1225	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721356	0.48728	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.76578	-1.03;-1.03;-0.98;-1.02;-1.02	5.14	4.25	0.50352	.	0.058293	0.64402	N	0.000003	T	0.74741	0.3756	M	0.63843	1.955	0.52501	D	0.999959	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.18263	0.021;0.007;0.003	T	0.70630	-0.4819	10	0.34782	T	0.22	.	14.2136	0.65779	0.0:0.9263:0.0:0.0737	.	374;374;409	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	S	374;374;409;374;374	ENSP00000384143:P374S;ENSP00000403783:P374S;ENSP00000263991:P409S;ENSP00000346482:P374S;ENSP00000385524:P374S	ENSP00000263991:P409S	P	+	1	0	EHBP1	62955106	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	1.322000	0.33689	1.279000	0.44446	0.655000	0.94253	CCA	EHBP1	-	NULL		0.373	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	C	NM_015252		63101602	1	no_errors	ENST00000263991	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63101602	C	T	63101602	3	4	137	1	0	0	0	0	1	0	0	0	4985	507	18	4	1263	4	EHBP1	2	63101602	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	35493831	63101602	180097771	26	22637										
POLR1A	25885	genome.wustl.edu	37	chr2	86257483	86257483	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tactaccagggagctcatgtCaaagttgatcttcatcagag	9	9	5	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:86257483C>G	ENST00000263857.6	-	31	4993	c.4615G>C	c.(4615-4617)Gac>Cac	p.D1539H	POLR1A_ENST00000409681.1_Missense_Mutation_p.D1478H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1539					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGCTCATGTCAAAGTTGATC	0.517																																																	0													117	107	110					2																	86257483		1977	4144	6121	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4615G>C	2.37:g.86257483C>G	ENSP00000263857:p.Asp1539His		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.D1539H	ENST00000263857.6	37	c.4615	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571064	0.86542	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67523	-0.27;-0.27	4.12	4.12	0.48240	RNA polymerase Rpb1, domain 5 (1);	0.118608	0.53938	D	0.000041	T	0.76378	0.3979	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.79605	-0.1734	10	0.66056	D	0.02	-35.3337	17.2845	0.87137	0.0:1.0:0.0:0.0	.	1539	O95602	RPA1_HUMAN	H	1539;1478	ENSP00000263857:D1539H;ENSP00000386300:D1478H	ENSP00000263857:D1539H	D	-	1	0	POLR1A	86110994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.361000	0.79497	2.250000	0.74265	0.655000	0.94253	GAC	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.517	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86257483	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86257483	C	G	86257483	3	3	137	1	0	0	0	0	1	0	0	0	12233	826	29	1	563	1	POLR1A	2	86257483	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	23155881	86257483	156941890	27	22638										
KDM3A	55818	genome.wustl.edu	37	chr2	86669240	86669240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttctcagtctgtccgcagccGacggcagcgatggcagccac	12	15	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:86669240G>A	ENST00000409556.1	+	3	435	c.70G>A	c.(70-72)Gac>Aac	p.D24N	KDM3A_ENST00000312912.5_Missense_Mutation_p.D24N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D24N|KDM3A_ENST00000542128.1_Missense_Mutation_p.D24N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	24				D -> G (in Ref. 2; CAH18459/CAH18373). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTCCGCAGCCGACGGCAGCGA	0.642																																					NSCLC(96;1150 1523 6936 46253 49736)												0													70	71	71					2																	86669240		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.70G>A	2.37:g.86669240G>A	ENSP00000386660:p.Asp24Asn		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.D24N	ENST00000409556.1	37	c.70	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668501	0.29604	.	.	ENSG00000115548	ENST00000452034;ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000427678;ENST00000542128	T;T;T;T	0.61859	0.21;0.21;0.21;0.07	3.63	2.54	0.30619	.	0.669153	0.13056	N	0.417264	T	0.39172	0.1068	L	0.36672	1.1	0.31310	N	0.687275	P;B	0.34546	0.456;0.327	B;B	0.26864	0.074;0.022	T	0.50415	-0.8831	10	0.62326	D	0.03	.	3.8148	0.08811	0.1862:0.0:0.5797:0.2341	.	24;24	F5H070;Q9Y4C1	.;KDM3A_HUMAN	N	24	ENSP00000386660:D24N;ENSP00000323659:D24N;ENSP00000386516:D24N;ENSP00000438324:D24N	ENSP00000323659:D24N	D	+	1	0	KDM3A	86522751	0.992000	0.36948	0.985000	0.45067	0.464000	0.32679	2.669000	0.46825	1.573000	0.49748	0.462000	0.41574	GAC	KDM3A	-	NULL		0.642	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	G	NM_018433		86669240	1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	0.911	A	A	86669240	G	A	86669240	3	1	137	1	0	0	0	0	1	0	0	0	8146	1058	37	1	72	1	KDM3A	2	86669240	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	411757	86669240	156530133	28	22639										
TMEM131	23505	genome.wustl.edu	37	chr2	98409038	98409038	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gggggcgggagacagcctttCaggctgcggctcctggggct	19	11	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:98409038C>G	ENST00000186436.5	-	31	4183	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1319	Pro-rich.					integral component of membrane (GO:0016021)		p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACAGCCTTTCAGGCTGCGGC	0.677																																																	3	Substitution - Missense(2)|Substitution - Nonsense(1)	cervix(2)|breast(1)											21	25	23					2																	98409038		2093	4223	6316	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3955G>C	2.37:g.98409038C>G	ENSP00000186436:p.Glu1319Gln			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.E1319Q	ENST00000186436.5	37	c.3955	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288090	0.40494	.	.	ENSG00000075568	ENST00000186436	T	0.24151	1.87	5.91	5.91	0.95273	.	0.562624	0.18838	N	0.129774	T	0.24812	0.0602	L	0.36672	1.1	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.05131	-1.0904	10	0.21014	T	0.42	-2.0572	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1319	Q92545	TM131_HUMAN	Q	1319	ENSP00000186436:E1319Q	ENSP00000186436:E1319Q	E	-	1	0	TMEM131	97775470	0.161000	0.22892	0.008000	0.14137	0.651000	0.38670	3.599000	0.54045	2.793000	0.96121	0.655000	0.94253	GAA	TMEM131	-	NULL		0.677	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98409038	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	0.036	G	G	98409038	C	G	98409038	3	3	137	1	0	0	0	0	1	0	0	0	16074	835	29	1	1740	1	TMEM131	2	98409038	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	11739798	98409038	144790335	29	22640										
TMEM182	130827	genome.wustl.edu	37	chr2	103431219	103431219	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cttctcaggcatcctattttCattggtggtgatgctgtatg	10	8	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:103431219C>T	ENST00000412401.2	+	5	687	c.482C>T	c.(481-483)tCa>tTa	p.S161L	TMEM182_ENST00000409528.1_Missense_Mutation_p.S65L|TMEM182_ENST00000409173.1_Missense_Mutation_p.S118L|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	161						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ATCCTATTTTCATTGGTGGTG	0.443																																																	0													83	71	75					2																	103431219		2203	4300	6503	SO:0001583	missense	130827			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.482C>T	2.37:g.103431219C>T	ENSP00000394178:p.Ser161Leu		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.S161L	ENST00000412401.2	37	c.482	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137748	0.09032	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.61392	0.11;0.11;0.11	6.16	4.39	0.52855	.	0.176983	0.52532	D	0.000078	T	0.41604	0.1166	N	0.20881	0.62	0.26840	N	0.968385	B;B	0.19583	0.037;0.037	B;B	0.22152	0.023;0.038	T	0.23226	-1.0194	10	0.21540	T	0.41	-5.7482	11.2955	0.49276	0.0:0.8607:0.0:0.1393	.	161;118	Q6ZP80;B8ZZ71	TM182_HUMAN;.	L	65;118;161	ENSP00000387258:S65L;ENSP00000387184:S118L;ENSP00000394178:S161L	ENSP00000387184:S118L	S	+	2	0	TMEM182	102797651	0.799000	0.28903	0.224000	0.23877	0.940000	0.58332	3.766000	0.55280	0.948000	0.37687	0.650000	0.86243	TCA	TMEM182	-	NULL		0.443	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	C	NM_144632		103431219	1	no_errors	ENST00000412401	ensembl	human	known	70_37	missense	SNP	0.453	T	T	103431219	C	T	103431219	3	4	137	1	0	0	0	0	1	0	0	0	16131	838	29	1	500	1	TMEM182	2	103431219	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	5022181	103431219	139768154	30	22641										
CCDC115	84317	genome.wustl.edu	37	chr2	131099622	131099622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgttcaacaccgttcgtttcCcctccagctcctccaggtcc	6	19	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:131099622C>T	ENST00000259229.2	-	1	300	c.77G>A	c.(76-78)gGg>gAg	p.G26E	CCDC115_ENST00000409127.1_Intron|IMP4_ENST00000409935.1_5'Flank|IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000437688.2_Intron	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	26						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CGTTCGTTTCCCCTCCAGCTC	0.652																																																	0													79	82	81					2																	131099622		2203	4300	6503	SO:0001583	missense	84317			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.77G>A	2.37:g.131099622C>T	ENSP00000259229:p.Gly26Glu		B4DJ47|Q9BR88	Missense_Mutation	SNP	NULL	p.G26E	ENST00000259229.2	37	c.77	CCDS2159.1	2	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481671	0.01027	.	.	ENSG00000136710	ENST00000259229	D	0.93659	-3.26	4.54	0.314	0.15847	.	0.664961	0.14690	N	0.304186	T	0.81489	0.4833	N	0.16790	0.44	0.47183	D	0.999347	B;B	0.32160	0.358;0.144	B;B	0.28139	0.086;0.083	T	0.73553	-0.3946	10	0.02654	T	1	.	7.7309	0.28786	0.0994:0.5254:0.3752:0.0	.	26;26	F8WCZ3;Q96NT0	.;CC115_HUMAN	E	26	ENSP00000259229:G26E	ENSP00000259229:G26E	G	-	2	0	CCDC115	130816092	0.406000	0.25344	0.809000	0.32408	0.021000	0.10359	0.466000	0.22019	0.239000	0.21243	-0.165000	0.13383	GGG	CCDC115	-	NULL		0.652	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC115	HGNC	protein_coding	OTTHUMT00000254524.2	C	NM_032357		131099622	-1	no_errors	ENST00000442217	ensembl	human	known	70_37	missense	SNP	0.727	T	T	131099622	C	T	131099622	3	4	137	1	0	0	0	0	1	0	0	0	2757	623	22	4	485	4	CCDC115	2	131099622	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	27668403	131099622	112099751	31	22642										
SCN7A	6332	genome.wustl.edu	37	chr2	167266421	167266421	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agcttggcttgttaccacatCaaagatgaatccttggagct	9	9	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:167266421C>T	ENST00000409855.1	-	24	3862	c.3736G>A	c.(3736-3738)Gat>Aat	p.D1246N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1246					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTACCACATCAAAGATGAAT	0.333																																																	0													35	34	35					2																	167266421		1847	4084	5931	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3736G>A	2.37:g.167266421C>T	ENSP00000386796:p.Asp1246Asn			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D1246N	ENST00000409855.1	37	c.3736	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843916	0.91197	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96992	-4.2	5.54	5.54	0.83059	.	0.125819	0.48286	D	0.000188	D	0.97971	0.9332	M	0.88310	2.945	0.45161	D	0.998177	D	0.67145	0.996	P	0.57846	0.828	D	0.98487	1.0608	10	0.87932	D	0	.	17.0229	0.86438	0.0:1.0:0.0:0.0	.	1246	Q01118	SCN7A_HUMAN	N	1246	ENSP00000386796:D1246N	ENSP00000259060:D1246N	D	-	1	0	SCN7A	166974667	1.000000	0.71417	0.998000	0.56505	0.518000	0.34316	7.625000	0.83145	2.880000	0.98712	0.650000	0.86243	GAT	SCN7A	-	NULL		0.333	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	C			167266421	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167266421	C	T	167266421	3	4	137	1	0	0	0	0	1	0	0	0	13953	826	29	1	1320	1	SCN7A	2	167266421	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	36166799	167266421	75932952	32	22643										
INPP1	3628	genome.wustl.edu	37	chr2	191235744	191235744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	acaagtgaaaaggagactatCaaagctgcattgtcacgtgt	10	7	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:191235744C>G	ENST00000322522.4	+	6	1272	c.816C>G	c.(814-816)atC>atG	p.I272M	INPP1_ENST00000392329.2_Missense_Mutation_p.I272M|INPP1_ENST00000541441.1_Missense_Mutation_p.I272M	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	272					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AGGAGACTATCAAAGCTGCAT	0.483																																					Melanoma(130;184 1743 2185 19805 38428)												0													140	136	138					2																	191235744		2203	4300	6503	SO:0001583	missense	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.816C>G	2.37:g.191235744C>G	ENSP00000325423:p.Ile272Met			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.I272M	ENST00000322522.4	37	c.816	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238179	0.58886	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.32753	1.44;1.44;1.44	5.34	4.46	0.54185	.	0.113763	0.64402	D	0.000009	T	0.49813	0.1579	M	0.81942	2.565	0.46260	D	0.998951	P	0.44044	0.825	P	0.52309	0.695	T	0.56655	-0.7943	10	0.66056	D	0.02	-21.9972	13.9478	0.64096	0.0:0.847:0.153:0.0	.	272	P49441	INPP_HUMAN	M	272	ENSP00000376142:I272M;ENSP00000325423:I272M;ENSP00000440650:I272M	ENSP00000325423:I272M	I	+	3	3	INPP1	190943989	1.000000	0.71417	0.913000	0.36048	0.705000	0.40729	0.876000	0.28092	1.485000	0.48380	0.449000	0.29647	ATC	INPP1	-	pfam_Inositol_monophosphatase		0.483	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	C			191235744	1	no_errors	ENST00000322522	ensembl	human	known	70_37	missense	SNP	1.000	G	G	191235744	C	G	191235744	3	3	137	1	0	0	0	0	1	0	0	0	7771	816	29	1	834	1	INPP1	2	191235744	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	23969323	191235744	51963629	33	22644										
DNAH7	56171	genome.wustl.edu	37	chr2	196722277	196722277	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgaagtgactgcagaaacctCatgtcaccaagaagtctctt	8	10	3	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:196722277C>T	ENST00000312428.6	-	44	8338	c.8238G>A	c.(8236-8238)atG>atA	p.M2746I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2746	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.M2746I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAGAAACCTCATGTCACCAA	0.378																																																	1	Substitution - Missense(1)	lung(1)											87	84	85					2																	196722277		1824	4075	5899	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8238G>A	2.37:g.196722277C>T	ENSP00000311273:p.Met2746Ile		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.M2746I	ENST00000312428.6	37	c.8238	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311598	0.23821	.	.	ENSG00000118997	ENST00000312428	T	0.72394	-0.65	5.27	-3.59	0.04583	Dynein heavy chain, coiled coil stalk (1);	0.111229	0.64402	N	0.000012	T	0.51176	0.1659	L	0.52011	1.625	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.09509	-1.0671	10	0.31617	T	0.26	.	1.0033	0.01482	0.1889:0.2886:0.2824:0.2402	.	2746	Q8WXX0	DYH7_HUMAN	I	2746	ENSP00000311273:M2746I	ENSP00000311273:M2746I	M	-	3	0	DNAH7	196430522	0.409000	0.25368	0.203000	0.23512	0.934000	0.57294	-0.230000	0.09083	-0.842000	0.04195	-1.075000	0.02238	ATG	DNAH7	-	superfamily_Signal_recog_particle_SRP9/14		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	C	NM_018897		196722277	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.953	T	T	196722277	C	T	196722277	3	4	137	1	0	0	0	0	1	0	0	0	4616	826	29	1	3924	1	DNAH7	2	196722277	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	5486533	196722277	46477096	34	22645										
SCG2	7857	genome.wustl.edu	37	chr2	224462894	224462894	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttcggcttctccccagttttGagcatctcaattaagtcttc	6	12	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:224462894G>C	ENST00000305409.2	-	2	1339	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCCAGTTTTGAGCATCTCAA	0.458																																																	0													70	71	70					2																	224462894		2203	4300	6503	SO:0001819	synonymous_variant	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1107C>G	2.37:g.224462894G>C			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Granin	p.L369	ENST00000305409.2	37	c.1107	CCDS2457.1	2																																																																																			SCG2	-	pfam_Granin		0.458	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	G	NM_003469		224462894	-1	no_errors	ENST00000305409	ensembl	human	known	70_37	silent	SNP	0.010	C	C	224462894	G	C	224462894	2	2	137	1	0	0	0	0	0	0	0	1	13921	1277	45	1		1	SCG2	2	224462894	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	27740617	224462894	18736479	35	22646										
EFHD1	80303	genome.wustl.edu	37	chr2	233527528	233527528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcaggtatgacgctgggcggGatggcttcatcgacctgatg	16	9	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:233527528G>A	ENST00000264059.3	+	2	796	c.319G>A	c.(319-321)Gat>Aat	p.D107N	EFHD1_ENST00000409708.1_De_novo_Start_OutOfFrame|EFHD1_ENST00000410095.1_De_novo_Start_OutOfFrame|EFHD1_ENST00000409613.1_Missense_Mutation_p.D11N	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	107	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CGCTGGGCGGGATGGCTTCAT	0.542																																																	0													84	81	82					2																	233527528		2203	4300	6503	SO:0001583	missense	80303				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.319G>A	2.37:g.233527528G>A	ENSP00000264059:p.Asp107Asn		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D107N	ENST00000264059.3	37	c.319	CCDS2497.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.306230	0.97458	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187	T;T	0.74421	-0.84;-0.84	4.98	4.98	0.66077	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	L	0.41415	1.275	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.85130	0.997;0.893	T	0.81376	-0.0961	10	0.46703	T	0.11	-27.942	17.4183	0.87507	0.0:0.0:1.0:0.0	.	11;107	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	N	11;107;10	ENSP00000386556:D11N;ENSP00000264059:D107N	ENSP00000264059:D107N	D	+	1	0	EFHD1	233235772	1.000000	0.71417	0.388000	0.26195	0.973000	0.67179	9.460000	0.97641	2.585000	0.87301	0.462000	0.41574	GAT	EFHD1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.542	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHD1	HGNC	protein_coding	OTTHUMT00000257040.2	G	NM_025202		233527528	1	no_errors	ENST00000264059	ensembl	human	known	70_37	missense	SNP	1.000	A	A	233527528	G	A	233527528	3	1	137	1	0	0	0	0	1	0	0	0	4958	1174	41	1	325	1	EFHD1	2	233527528	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	9064634	233527528	9671845	36	22647										
ASB18	401036	genome.wustl.edu	37	chr2	237172927	237172927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctttggcatccagggcagacTttaatctcttcactaaatct	6	11	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr2:237172927T>C	ENST00000409749.3	-	1	61	c.62A>G	c.(61-63)aAg>aGg	p.K21R	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	21					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CAGGGCAGACTTTAATCTCTT	0.478																																																	0													124	119	121					2																	237172927		1972	4176	6148	SO:0001583	missense	401036			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.62A>G	2.37:g.237172927T>C	ENSP00000386532:p.Lys21Arg		B6ZDL7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.K21R	ENST00000409749.3	37	c.62	CCDS46548.1	2	.	.	.	.	.	.	.	.	.	.	T	19.45	3.829458	0.71258	.	.	ENSG00000182177	ENST00000409749;ENST00000430053	T;T	0.51071	0.72;0.74	5.14	3.99	0.46301	.	.	.	.	.	T	0.59609	0.2206	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59215	-0.7496	9	0.09338	T	0.73	.	9.8096	0.40815	0.0:0.0827:0.0:0.9173	.	21	Q6ZVZ8	ASB18_HUMAN	R	21	ENSP00000386532:K21R;ENSP00000410021:K21R	ENSP00000386532:K21R	K	-	2	0	ASB18	236837666	1.000000	0.71417	0.109000	0.21407	0.936000	0.57629	4.761000	0.62243	0.812000	0.34326	0.482000	0.46254	AAG	ASB18	-	NULL		0.478	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB18	HGNC	protein_coding	OTTHUMT00000329436.1	T	NM_212556		237172927	-1	no_errors	ENST00000409749	ensembl	human	known	70_37	missense	SNP	0.882	C	C	237172927	T	C	237172927	3	2	137	1	0	0	0	0	1	0	0	0	1023	1609	56	5	1361	5	ASB18	2	237172927	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	3645399	237172927	6026446	37	22648										
XIRP1	165904	genome.wustl.edu	37	chr3	39228399	39228399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccagttgggtcttcctgcacCagcagcccctgctggtccac	10	17	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:39228399C>T	ENST00000340369.3	-	2	2766	c.2538G>A	c.(2536-2538)ctG>ctA	p.L846L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L846L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	846					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTCCTGCACCAGCAGCCCCT	0.592																																																	0													38	37	37					3																	39228399		2203	4300	6503	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2538G>A	3.37:g.39228399C>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.L846	ENST00000340369.3	37	c.2538	CCDS2683.1	3																																																																																			XIRP1	-	NULL		0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39228399	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	silent	SNP	0.999	T	T	39228399	C	T	39228399	2	4	137	1	0	0	0	0	0	0	0	1	17460	581	21	4		4	XIRP1	3	39228399	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		39228399	158794031	38	22649										
DNAH1	25981	genome.wustl.edu	37	chr3	52433158	52433158	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aggctttcttaacaggcactCtgcagaattttgcccgcaaa	8	11	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:52433158C>G	ENST00000420323.2	+	76	12643	c.12382C>G	c.(12382-12384)Ctg>Gtg	p.L4128V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4193					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACAGGCACTCTGCAGAATTT	0.532																																																	0													322	323	323					3																	52433158		1921	4122	6043	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12382C>G	3.37:g.52433158C>G	ENSP00000401514:p.Leu4128Val		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L4128V	ENST00000420323.2	37	c.12382	CCDS46842.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.797965|2.797965	0.50208|0.50208	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000420323|ENST00000273600	T|.	0.08370|.	3.1|.	4.5|4.5	3.62|3.62	0.41486|0.41486	.|.	0.000000|.	0.50627|.	D|.	0.000107|.	T|T	0.68531|0.68531	0.3011|0.3011	M|M	0.76838|0.76838	2.35|2.35	0.39391|0.39391	D|D	0.966426|0.966426	D;D|.	0.71674|.	0.998;0.986|.	D;P|.	0.67382|.	0.951;0.64|.	T|T	0.72818|0.72818	-0.4178|-0.4178	10|6	0.66056|0.66056	D|D	0.02|0.02	.|.	9.789|9.789	0.40695|0.40695	0.0:0.8382:0.0:0.1618|0.0:0.8382:0.0:0.1618	.|.	4128;4193|.	C9JXH6;Q9P2D7-2|.	.;.|.	V|C	4128|880	ENSP00000401514:L4128V|.	ENSP00000401514:L4128V|ENSP00000273600:S880C	L|S	+|+	1|2	2|0	DNAH1|DNAH1	52408198|52408198	0.147000|0.147000	0.22687|0.22687	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	0.699000|0.699000	0.25586|0.25586	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	CTG|TCT	DNAH1	-	pfam_Dynein_heavy_dom		0.532	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52433158	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.495	G	G	52433158	C	G	52433158	3	3	137	1	0	0	0	0	1	0	0	0	4607	912	32	1	12680	1	DNAH1	3	52433158	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	13204759	52433158	145589272	39	22650										
CACNA1D	776	genome.wustl.edu	37	chr3	53707786	53707786	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gccatgggtgtattttgttaGtctgatcatccttggctcat	10	8	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:53707786G>C	ENST00000350061.5	+	8	1731				CACNA1D_ENST00000498251.1_Intron|CACNA1D_ENST00000288139.4_Missense_Mutation_p.S388T|CACNA1D_ENST00000422281.2_Intron	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TATTTTGTTAGTCTGATCATC	0.448																																																	0													381	285	317					3																	53707786		2203	4300	6503	SO:0001627	intron_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1220+633G>C	3.37:g.53707786G>C			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.S388T	ENST00000350061.5	37	c.1163	CCDS46848.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.41|13.41	2.227781|2.227781	0.39399|0.39399	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000288139|ENST00000481085	D|.	0.98567|.	-5.0|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.114744|.	0.56097|.	D|.	0.000023|.	T|T	0.49660|0.49660	0.1570|0.1570	N|N	0.12663|0.12663	0.25|0.25	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.43750|0.43750	-0.9372|-0.9372	10|5	0.13853|.	T|.	0.58|.	.|.	18.9117|18.9117	0.92489|0.92489	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	388|.	Q01668-2|.	.|.	T|L	388|74	ENSP00000288139:S388T|.	ENSP00000288139:S388T|.	S|V	+|+	2|1	0|0	CACNA1D|CACNA1D	53682826|53682826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.709000|7.709000	0.84645|0.84645	2.696000|2.696000	0.92011|0.92011	0.650000|0.650000	0.86243|0.86243	AGT|GTC	CACNA1D	-	pfam_Ion_trans_dom		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	G	NM_000720		53707786	1	no_errors	ENST00000288139	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53707786	G	C	53707786	1	2	137	0	1	0	0	0	0	0	0	0	2546	1029	36	4		4	CACNA1D	3	53707786	Intron	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1274628	53707786	144314644	40	22651										
CACNA1D	776	genome.wustl.edu	37	chr3	53844063	53844063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gaagtactcaccgagtcactCgacccggtcgtgggccaccc	11	16	2	0	rs202077075		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:53844063C>T	ENST00000350061.5	+	47	6441	c.5930C>T	c.(5929-5931)tCg>tTg	p.S1977L	CACNA1D_ENST00000288139.4_Missense_Mutation_p.S1997L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1953L|CACNA1D_ENST00000544977.1_3'UTR	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1977					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGAGTCACTCGACCCGGTCG	0.602																																																	0								C	LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	60	63	62		5990,5858,5930	5.2	1	3		62	0,8600		0,0,4300	yes	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	145,145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	1997/2182,1953/2138,1977/2162	53844063	2,13004	2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5930C>T	3.37:g.53844063C>T	ENSP00000288133:p.Ser1977Leu		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.S1997L	ENST00000350061.5	37	c.5990	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125601	0.37533	4.54E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.21	5.21	0.72293	.	0.193548	0.33553	N	0.004788	T	0.78515	0.4295	M	0.68593	2.085	0.80722	D	1	D;B;B;D	0.89917	1.0;0.063;0.027;1.0	D;B;B;D	0.87578	0.994;0.009;0.009;0.998	T	0.72743	-0.4201	10	0.11182	T	0.66	.	17.3269	0.87251	0.0:1.0:0.0:0.0	.	1953;1670;1977;1997	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	L	1977;1997;1953;1670	ENSP00000288133:S1977L;ENSP00000288139:S1997L;ENSP00000409174:S1953L;ENSP00000418014:S1670L	ENSP00000288139:S1997L	S	+	2	0	CACNA1D	53819103	1.000000	0.71417	0.969000	0.41365	0.952000	0.60782	7.757000	0.85209	2.608000	0.88229	0.460000	0.39030	TCG	CACNA1D	-	NULL		0.602	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	C	NM_000720		53844063	1	no_errors	ENST00000288139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53844063	C	T	53844063	3	4	137	1	0	0	0	0	1	0	0	0	2546	893	31	1	6288	1	CACNA1D	3	53844063	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	136277	53844063	144178367	41	22652										
PTPRG	5793	genome.wustl.edu	37	chr3	62063909	62063909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttctgagaacagaataatcGgagccatggccatatttttt	8	7	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:62063909G>A	ENST00000474889.1	+	5	969	c.592G>A	c.(592-594)Gga>Aga	p.G198R	PTPRG_ENST00000295874.10_Missense_Mutation_p.G198R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	198	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATAATCGGAGCCATGGC	0.313																																																	0													56	57	56					3																	62063909		2202	4300	6502	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.592G>A	3.37:g.62063909G>A	ENSP00000418112:p.Gly198Arg		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.G198R	ENST00000474889.1	37	c.592	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124843	0.56613	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66995	-0.24;-0.24	6.07	6.07	0.98685	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.190513	0.43919	D	0.000501	T	0.71896	0.3394	L	0.38175	1.15	0.49299	D	0.999776	D;D	0.71674	0.998;0.994	P;P	0.59288	0.855;0.723	T	0.63305	-0.6667	10	0.16420	T	0.52	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	198;198	P23470-2;P23470	.;PTPRG_HUMAN	R	198	ENSP00000418112:G198R;ENSP00000295874:G198R	ENSP00000295874:G198R	G	+	1	0	PTPRG	62038949	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.988000	0.88194	2.885000	0.99019	0.655000	0.94253	GGA	PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.313	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841		62063909	1	no_errors	ENST00000474889	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62063909	G	A	62063909	3	1	137	1	0	0	0	0	1	0	0	0	12832	1117	39	2	610	2	PTPRG	3	62063909	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	8219846	62063909	135958521	42	22653										
PDZRN3	23024	genome.wustl.edu	37	chr3	73453428	73453428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gctgagactctgatggaggcGtgaacattttggtccttggt	14	7	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:73453428G>A	ENST00000263666.4	-	4	1151	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T68M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T3M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T63M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T3M|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	346					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGATGGAGGCGTGAACATTTT	0.532																																																	0													212	170	184					3																	73453428		2203	4300	6503	SO:0001583	missense	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1037C>T	3.37:g.73453428G>A	ENSP00000263666:p.Thr346Met		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.T346M	ENST00000263666.4	37	c.1037	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847598	0.51164	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.10860	2.83;3.58;3.45;3.45;3.58;3.58	6.07	4.28	0.50868	PDZ/DHR/GLGF (1);	0.232551	0.41823	D	0.000810	T	0.16981	0.0408	L	0.54323	1.7	0.33955	D	0.644936	D;D;D;D	0.63046	0.989;0.986;0.981;0.992	P;B;P;B	0.52710	0.707;0.361;0.513;0.431	T	0.22034	-1.0228	10	0.54805	T	0.06	.	6.993	0.24765	0.1499:0.2349:0.6153:0.0	.	68;63;63;346	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	M	346;68;3;3;63;346;44	ENSP00000263666:T346M;ENSP00000442026:T68M;ENSP00000418168:T3M;ENSP00000418484:T3M;ENSP00000418624:T63M;ENSP00000419250:T44M	ENSP00000263666:T346M	T	-	2	0	PDZRN3	73536118	0.535000	0.26370	0.465000	0.27155	0.587000	0.36485	1.046000	0.30354	0.896000	0.36366	0.655000	0.94253	ACG	PDZRN3	-	superfamily_PDZ		0.532	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	G	XM_041363		73453428	-1	no_errors	ENST00000263666	ensembl	human	known	70_37	missense	SNP	0.988	A	A	73453428	G	A	73453428	3	1	137	1	0	0	0	0	1	0	0	0	11733	1145	40	2	2191	2	PDZRN3	3	73453428	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	11389519	73453428	124569002	43	22654										
ARGFX	503582	genome.wustl.edu	37	chr3	121303884	121303884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcaggagaaactagctttgaGactcgacctaccggagtcaa	10	10	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:121303884G>A	ENST00000334384.3	+	3	351	c.341G>A	c.(340-342)aGa>aAa	p.R114K		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CTAGCTTTGAGACTCGACCTA	0.493																																																	0													99	99	99					3																	121303884		2203	4300	6503	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.341G>A	3.37:g.121303884G>A	ENSP00000335578:p.Arg114Lys			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R114K	ENST00000334384.3	37	c.341	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	G	0.528	-0.859125	0.02610	.	.	ENSG00000186103	ENST00000334384	D	0.95622	-3.76	2.92	0.485	0.16830	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.705338	0.12267	N	0.484218	T	0.80560	0.4646	N	0.01649	-0.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72616	-0.4239	10	0.02654	T	1	-3.9831	4.6514	0.12596	0.7049:0.0:0.2951:0.0	.	114	A6NJG6	ARGFX_HUMAN	K	114	ENSP00000335578:R114K	ENSP00000335578:R114K	R	+	2	0	ARGFX	122786574	0.839000	0.29477	0.025000	0.17156	0.328000	0.28507	1.544000	0.36158	0.109000	0.17891	-0.351000	0.07748	AGA	ARGFX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.493	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	G	NM_001012659		121303884	1	no_errors	ENST00000334384	ensembl	human	known	70_37	missense	SNP	0.037	A	A	121303884	G	A	121303884	3	1	137	1	0	0	0	0	1	0	0	0	859	942	33	1	351	1	ARGFX	3	121303884	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	47850456	121303884	76718546	44	22655										
ROPN1	54763	genome.wustl.edu	37	chr3	123699316	123699316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgggatgcatgttggcttatCtgtctgagccattgattggt	13	7	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:123699316C>T	ENST00000184183.4	-	3	353	c.13G>A	c.(13-15)Gat>Aat	p.D5N	ROPN1_ENST00000484329.1_Missense_Mutation_p.D5N|ROPN1_ENST00000495093.1_Missense_Mutation_p.D5N|ROPN1_ENST00000479867.1_Missense_Mutation_p.D5N|ROPN1_ENST00000459660.1_Missense_Mutation_p.D5N|ROPN1_ENST00000405845.3_Missense_Mutation_p.D5N	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GTTGGCTTATCTGTCTGAGCC	0.512																																																	0													74	74	74					3																	123699316		2203	4300	6503	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.13G>A	3.37:g.123699316C>T	ENSP00000184183:p.Asp5Asn		D3DN99|Q9UF38	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D5N	ENST00000184183.4	37	c.13	CCDS3026.1	3	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110063	0.56398	.	.	ENSG00000065371	ENST00000184183;ENST00000405845;ENST00000467907;ENST00000460743;ENST00000495336;ENST00000496145;ENST00000459660;ENST00000479867;ENST00000480459;ENST00000498333;ENST00000495093;ENST00000484329	T;T;T;T	0.35236	1.78;1.78;1.38;1.32	4.11	3.23	0.37069	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.171205	0.39759	N	0.001261	T	0.29684	0.0741	L	0.42245	1.32	0.34595	D	0.715904	P	0.37330	0.59	B	0.35413	0.202	T	0.48445	-0.9035	10	0.56958	D	0.05	-2.9193	11.6079	0.51043	0.0:0.8199:0.1801:0.0	.	5	Q9HAT0	ROP1A_HUMAN	N	5	ENSP00000184183:D5N;ENSP00000385919:D5N;ENSP00000417067:D5N;ENSP00000420310:D5N	ENSP00000184183:D5N	D	-	1	0	ROPN1	125182006	0.687000	0.27671	0.780000	0.31762	0.305000	0.27757	1.344000	0.33941	1.088000	0.41272	0.555000	0.69702	GAT	ROPN1	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b		0.512	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROPN1	HGNC	protein_coding	OTTHUMT00000356188.2	C	NM_017578		123699316	-1	no_errors	ENST00000184183	ensembl	human	known	70_37	missense	SNP	0.981	T	T	123699316	C	T	123699316	3	4	137	1	0	0	0	0	1	0	0	0	13553	913	32	1	645	1	ROPN1	3	123699316	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	2395432	123699316	74323114	45	22656										
NAALADL2	254827	genome.wustl.edu	37	chr3	175042010	175042010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tggaggtgttcttctgtataTcgatccttgtgatttgccaa	10	7	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:175042010T>C	ENST00000454872.1	+	5	1114	c.986T>C	c.(985-987)aTc>aCc	p.I329T	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	329						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTTCTGTATATCGATCCTTGT	0.413																																																	0													236	231	233					3																	175042010		1899	4112	6011	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.986T>C	3.37:g.175042010T>C	ENSP00000404705:p.Ile329Thr		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.I329T	ENST00000454872.1	37	c.986	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	T	7.650	0.682659	0.14907	.	.	ENSG00000177694	ENST00000454872	T	0.38722	1.12	5.79	5.79	0.91817	.	0.536226	0.17966	N	0.156017	T	0.27349	0.0671	N	0.24115	0.695	0.22803	N	0.998714	B	0.13594	0.008	B	0.17979	0.02	T	0.19353	-1.0308	10	0.10902	T	0.67	-4.7902	10.6686	0.45745	0.0:0.0741:0.0:0.9259	.	329	Q58DX5	NADL2_HUMAN	T	329	ENSP00000404705:I329T	ENSP00000404705:I329T	I	+	2	0	NAALADL2	176524704	1.000000	0.71417	0.959000	0.39883	0.886000	0.51366	2.437000	0.44828	2.208000	0.71279	0.460000	0.39030	ATC	NAALADL2	-	NULL		0.413	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	T	NM_207015		175042010	1	no_errors	ENST00000454872	ensembl	human	known	70_37	missense	SNP	0.989	C	C	175042010	T	C	175042010	3	2	137	1	0	0	0	0	1	0	0	0	10153	1435	50	5	1004	5	NAALADL2	3	175042010	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	51342694	175042010	22980420	46	22657										
ETV5	2119	genome.wustl.edu	37	chr3	185766533	185766533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agcggcagggtgtcctcctcGctgaggtggcactcggactc	15	13	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:185766533G>A	ENST00000306376.5	-	13	1674	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	ETV5_ENST00000537818.1_Silent_p.S518S|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Silent_p.S476S	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	476					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGTCCTCCTCGCTGAGGTGGC	0.587			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0													76	68	71					3																	185766533		2203	4300	6503	SO:0001819	synonymous_variant	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1428C>T	3.37:g.185766533G>A			A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S518	ENST00000306376.5	37	c.1554	CCDS33906.1	3																																																																																			ETV5	-	NULL		0.587	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	G	NM_004454		185766533	-1	no_errors	ENST00000537818	ensembl	human	known	70_37	silent	SNP	0.002	A	A	185766533	G	A	185766533	2	1	137	1	0	0	0	0	0	0	0	1	5294	1078	38	2		2	ETV5	3	185766533	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	10724523	185766533	12255897	47	22658										
PCYT1A	5130	genome.wustl.edu	37	chr3	195968876	195968876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cccctctgcaggttccgcctCgcatacacatcataatcccg	6	18	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:195968876C>T	ENST00000292823.2	-	8	823	c.651G>A	c.(649-651)gcG>gcA	p.A217A	PCYT1A_ENST00000419333.1_Silent_p.A217A|PCYT1A_ENST00000431016.1_Silent_p.A217A	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	217					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GGTTCCGCCTCGCATACACAT	0.502																																																	0													138	113	121					3																	195968876		2203	4300	6503	SO:0001819	synonymous_variant	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.651G>A	3.37:g.195968876C>T			A9LYK9|D3DXB1|Q86Y88	Silent	SNP	pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like	p.A217	ENST00000292823.2	37	c.651	CCDS3315.1	3																																																																																			PCYT1A	-	NULL		0.502	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	C	NM_005017		195968876	-1	no_errors	ENST00000292823	ensembl	human	known	70_37	silent	SNP	0.677	T	T	195968876	C	T	195968876	2	4	137	1	0	0	0	0	0	0	0	1	11634	871	31	1		1	PCYT1A	3	195968876	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	10202343	195968876	2053554	48	22659										
SENP5	205564	genome.wustl.edu	37	chr3	196612651	196612651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gggcttttgttacggctgctGccaagggccggagcaccaca	14	12	0	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr3:196612651G>A	ENST00000323460.5	+	2	848	c.599G>A	c.(598-600)tGc>tAc	p.C200Y	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.C200Y	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	200					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TACGGCTGCTGCCAAGGGCCG	0.468																																					Ovarian(47;891 1095 11174 13858 51271)												0													44	45	45					3																	196612651		2203	4300	6503	SO:0001583	missense	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.599G>A	3.37:g.196612651G>A	ENSP00000327197:p.Cys200Tyr		B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.C200Y	ENST00000323460.5	37	c.599	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	G	5.665	0.307275	0.10733	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.46819	0.86;0.86	5.58	-2.5	0.06384	.	1.130820	0.06453	N	0.728081	T	0.20373	0.0490	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49428	-0.8941	10	0.02654	T	1	2.1932	10.7097	0.45975	0.4996:0.0:0.5004:0.0	.	200;200	B4DY82;Q96HI0	.;SENP5_HUMAN	Y	200	ENSP00000327197:C200Y;ENSP00000390231:C200Y	ENSP00000327197:C200Y	C	+	2	0	SENP5	198097048	0.664000	0.27457	0.966000	0.40874	0.532000	0.34746	-0.058000	0.11750	-0.609000	0.05724	-0.302000	0.09304	TGC	SENP5	-	NULL		0.468	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	G	NM_152699		196612651	1	no_errors	ENST00000323460	ensembl	human	known	70_37	missense	SNP	0.985	A	A	196612651	G	A	196612651	3	1	137	1	0	0	0	0	1	0	0	0	14079	1319	46	4	601	4	SENP5	3	196612651	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	643775	196612651	1409779	49	22660										
PIGG	54872	genome.wustl.edu	37	chr4	502747	502747	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttttaatcagttctgcgtttGaaaggaaacccggtgagaat	10	6	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr4:502747G>C	ENST00000453061.2	+	5	995	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	PIGG_ENST00000310340.5_Missense_Mutation_p.E297Q|PIGG_ENST00000503111.1_Missense_Mutation_p.E208Q|PIGG_ENST00000509768.1_Missense_Mutation_p.E208Q|PIGG_ENST00000296306.7_Missense_Mutation_p.E208Q|PIGG_ENST00000383028.4_Missense_Mutation_p.E164Q|PIGG_ENST00000536264.1_Missense_Mutation_p.E175Q|PIGG_ENST00000504346.1_Missense_Mutation_p.E208Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	297					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTCTGCGTTTGAAAGGAAACC	0.393																																																	0													73	73	73					4																	502747		2203	4300	6503	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.889G>C	4.37:g.502747G>C	ENSP00000415203:p.Glu297Gln		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E297Q	ENST00000453061.2	37	c.889	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	9.680	1.149100	0.21288	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000383028;ENST00000509768	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.63	3.79	0.43588	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.140644	0.64402	N	0.000005	T	0.20700	0.0498	N	0.25031	0.7	0.30716	N	0.748744	B;B;B;B;B;B	0.21071	0.009;0.051;0.02;0.01;0.036;0.004	B;B;B;B;B;B	0.23018	0.014;0.041;0.043;0.024;0.026;0.012	T	0.10109	-1.0644	10	0.10636	T	0.68	.	15.7458	0.77939	0.0:0.2737:0.7262:0.0	.	175;164;208;208;297;297	B4DKC7;Q5H8A4-3;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;.;PIGG_HUMAN;.	Q	208;175;297;297;208;208;164;208	ENSP00000296306:E208Q;ENSP00000439240:E175Q;ENSP00000311750:E297Q;ENSP00000415203:E297Q;ENSP00000424800:E208Q;ENSP00000426002:E208Q;ENSP00000372494:E164Q;ENSP00000421550:E208Q	ENSP00000296306:E208Q	E	+	1	0	PIGG	492747	1.000000	0.71417	0.915000	0.36163	0.967000	0.64934	2.042000	0.41222	1.368000	0.46115	0.655000	0.94253	GAA	PIGG	-	superfamily_Alkaline_phosphatase_core		0.393	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	G	NM_017733		502747	1	no_errors	ENST00000453061	ensembl	human	known	70_37	missense	SNP	0.998	C	C	502747	G	C	502747	3	2	137	1	0	0	0	0	1	0	0	0	11912	1291	45	1	907	1	PIGG	4	502747	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		502747	190651529	50	22661										
SLIT2	9353	genome.wustl.edu	37	chr4	20618553	20618553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcatgccagggaagagtaacGtggcatctctgcgccaggcc	14	12	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr4:20618553G>T	ENST00000504154.1	+	35	4120	c.3868G>T	c.(3868-3870)Gtg>Ttg	p.V1290L	SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282L|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286L|SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1290	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGAGTAACGTGGCATCTCT	0.562																																																	0													44	43	43					4																	20618553		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3868G>T	4.37:g.20618553G>T	ENSP00000422591:p.Val1290Leu		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1290L	ENST00000504154.1	37	c.3868	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059286	0.19987	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.96	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.919326	0.09535	N	0.788994	T	0.47746	0.1462	N	0.01473	-0.845	0.28133	N	0.930102	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.29397	-1.0013	10	0.21540	T	0.41	.	10.0633	0.42288	0.2:0.0:0.8:0.0	.	1282;1290	O94813-3;O94813	.;SLIT2_HUMAN	L	1282;1290;1303;1286;1286	ENSP00000427548:V1282L;ENSP00000422591:V1290L;ENSP00000273739:V1303L;ENSP00000422261:V1286L	ENSP00000273739:V1303L	V	+	1	0	SLIT2	20227651	0.979000	0.34478	0.997000	0.53966	0.989000	0.77384	1.895000	0.39778	2.833000	0.97629	0.650000	0.86243	GTG	SLIT2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.562	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	G			20618553	1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	0.768	T	T	20618553	G	T	20618553	3	4	137	1	0	0	0	0	1	0	0	0	14770	1145	40	2	4006	2	SLIT2	4	20618553	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	20115806	20618553	170535723	51	22662										
SEC31A	22872	genome.wustl.edu	37	chr4	83778199	83778199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tggccaatataatggcatcgGccatgcggttatcatgtaaa	10	8	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr4:83778199G>A	ENST00000395310.2	-	16	1969	c.1787C>T	c.(1786-1788)gCc>gTc	p.A596V	SEC31A_ENST00000505984.1_Missense_Mutation_p.A557V|SEC31A_ENST00000505472.1_Missense_Mutation_p.A596V|SEC31A_ENST00000448323.1_Missense_Mutation_p.A596V|SEC31A_ENST00000432794.1_Missense_Mutation_p.A596V|SEC31A_ENST00000348405.4_Missense_Mutation_p.A557V|SEC31A_ENST00000311785.7_Missense_Mutation_p.A596V|SEC31A_ENST00000264405.5_Missense_Mutation_p.A329V|SEC31A_ENST00000500777.2_Missense_Mutation_p.A557V|SEC31A_ENST00000508502.1_Missense_Mutation_p.A596V|SEC31A_ENST00000326950.5_Missense_Mutation_p.A557V|SEC31A_ENST00000355196.2_Missense_Mutation_p.A596V|SEC31A_ENST00000508479.1_Missense_Mutation_p.A596V|SEC31A_ENST00000509142.1_Missense_Mutation_p.A596V|SEC31A_ENST00000513858.1_Missense_Mutation_p.A557V|SEC31A_ENST00000443462.2_Missense_Mutation_p.A591V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	596					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AATGGCATCGGCCATGCGGTT	0.418																																																	0													86	81	83					4																	83778199		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1787C>T	4.37:g.83778199G>A	ENSP00000378721:p.Ala596Val		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A596V	ENST00000395310.2	37	c.1787	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.654932	0.96724	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.76;0.65;1.85;1.87;0.74;1.76;1.85;0.76;0.74;0.62;0.65;1.86;1.85;2.74;1.79;1.83;1.96	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.91561	3.22	0.80722	D	1	D;D;D;D;P;D;D;D;D	0.89917	1.0;0.984;1.0;0.997;0.851;1.0;0.999;1.0;1.0	D;P;D;D;P;D;D;D;D	0.91635	0.999;0.906;0.999;0.964;0.623;0.996;0.997;0.999;0.999	T	0.81543	-0.0885	10	0.72032	D	0.01	-18.564	19.949	0.97192	0.0:0.0:1.0:0.0	.	591;557;596;557;557;596;596;596;329	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;SC31A_HUMAN;.	V	557;557;596;591;596;596;596;557;596;596;557;596;596;329;557;596;184	ENSP00000337602:A557V;ENSP00000426886:A557V;ENSP00000378721:A596V;ENSP00000408027:A591V;ENSP00000426569:A596V;ENSP00000407944:A596V;ENSP00000400926:A596V;ENSP00000325087:A557V;ENSP00000309070:A596V;ENSP00000421633:A596V;ENSP00000421464:A557V;ENSP00000424635:A596V;ENSP00000347329:A596V;ENSP00000264405:A329V;ENSP00000424451:A557V;ENSP00000425999:A596V;ENSP00000422267:A184V	ENSP00000264405:A329V	A	-	2	0	SEC31A	83997223	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.706000	0.92434	0.655000	0.94253	GCC	SEC31A	-	NULL		0.418	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83778199	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83778199	G	A	83778199	3	1	137	1	0	0	0	0	1	0	0	0	14028	1203	42	4	1923	4	SEC31A	4	83778199	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	63159646	83778199	107376077	52	22663										
KLHL8	57563	genome.wustl.edu	37	chr4	88084771	88084771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctgctccagctctgcagtgaGacacagatccaacaagctcc	8	15	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr4:88084771G>A	ENST00000273963.5	-	10	2104	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	KLHL8_ENST00000545252.1_Missense_Mutation_p.S237F|KLHL8_ENST00000498875.2_Missense_Mutation_p.S512F|KLHL8_ENST00000425278.2_Missense_Mutation_p.S405F|KLHL8_ENST00000512111.1_Missense_Mutation_p.S588F	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	588					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCTGCAGTGAGACACAGATCC	0.398																																																	0													107	98	101					4																	88084771		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1763C>T	4.37:g.88084771G>A	ENSP00000273963:p.Ser588Phe		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S588F	ENST00000273963.5	37	c.1763	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.227918	0.95173	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.74106	-0.81;-0.19;-0.19;-0.24;-0.81	5.86	5.86	0.93980	Galactose oxidase, beta-propeller (1);	0.055132	0.85682	D	0.000000	T	0.78742	0.4331	L	0.52573	1.65	0.80722	D	1	D;P;P	0.54397	0.966;0.927;0.831	P;P;P	0.55161	0.77;0.77;0.76	T	0.72606	-0.4242	10	0.17369	T	0.5	.	18.3586	0.90367	0.0:0.0:1.0:0.0	.	405;512;588	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	F	588;512;405;237;588	ENSP00000273963:S588F;ENSP00000426451:S512F;ENSP00000408854:S405F;ENSP00000439514:S237F;ENSP00000424131:S588F	ENSP00000273963:S588F	S	-	2	0	KLHL8	88303795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.778000	0.95560	0.591000	0.81541	TCT	KLHL8	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.398	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	G			88084771	-1	no_errors	ENST00000273963	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88084771	G	A	88084771	3	1	137	1	0	0	0	0	1	0	0	0	8415	942	33	1	103	1	KLHL8	4	88084771	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	4306572	88084771	103069505	53	22664										
TLR3	7098	genome.wustl.edu	37	chr4	187005261	187005261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gaagcaattgttaacagcatCaaaagaagcagaaaaattat	7	5	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr4:187005261C>G	ENST00000296795.3	+	4	2525	c.2421C>G	c.(2419-2421)atC>atG	p.I807M	TLR3_ENST00000504367.1_Missense_Mutation_p.I530M	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	807	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTAACAGCATCAAAAGAAGCA	0.333																																																	0													56	61	59					4																	187005261		2202	4300	6502	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2421C>G	4.37:g.187005261C>G	ENSP00000296795:p.Ile807Met		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I807M	ENST00000296795.3	37	c.2421	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458155	0.26161	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.24151	1.87;1.87	5.98	2.01	0.26516	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.126945	0.64402	D	0.000001	T	0.22360	0.0539	L	0.32530	0.975	0.44207	D	0.997039	P	0.44946	0.846	P	0.51806	0.68	T	0.06826	-1.0805	10	0.33141	T	0.24	.	2.3859	0.04365	0.4625:0.2847:0.0996:0.1533	.	807	O15455	TLR3_HUMAN	M	807;807;530	ENSP00000296795:I807M;ENSP00000423684:I530M	ENSP00000296795:I807M	I	+	3	3	TLR3	187242255	0.920000	0.31207	0.993000	0.49108	0.971000	0.66376	0.081000	0.14823	0.833000	0.34828	-0.284000	0.09977	ATC	TLR3	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.333	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	C			187005261	1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.906	G	G	187005261	C	G	187005261	3	3	137	1	0	0	0	0	1	0	0	0	15982	816	29	1	2431	1	TLR3	4	187005261	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	98920490	187005261	4149015	54	22665										
ZDHHC11	79844	genome.wustl.edu	37	chr5	850645	850645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cactctggagatgcggggcgGcaagaccagcttttcattat	12	10	2	2	rs138515363	byFrequency	TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:850645G>A	ENST00000283441.8	-	1	456	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.P25S	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	25						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ATGCGGGGCGGCAAGACCAGC	0.607																																																	0													91	91	91					5																	850645		2203	4300	6503	SO:0001583	missense	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.73C>T	5.37:g.850645G>A	ENSP00000283441:p.Pro25Ser		Q6UWR9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P25S	ENST00000283441.8	37	c.73	CCDS3857.1	5	.	.	.	.	.	.	.	.	.	.	N	15.90	2.970862	0.53614	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.60040	0.22;0.22	4.17	1.28	0.21552	.	.	.	.	.	T	0.57651	0.2068	L	0.44542	1.39	0.20074	N	0.999939	D	0.69078	0.997	P	0.59643	0.861	T	0.46034	-0.9220	9	0.54805	T	0.06	-15.0998	2.5058	0.04645	0.1074:0.1886:0.5097:0.1944	.	25	Q9H8X9	ZDH11_HUMAN	S	25	ENSP00000397719:P25S;ENSP00000283441:P25S	ENSP00000283441:P25S	P	-	1	0	ZDHHC11	903645	0.184000	0.23200	0.000000	0.03702	0.001000	0.01503	2.014000	0.40951	0.049000	0.15920	0.511000	0.50034	CCG	ZDHHC11	-	NULL		0.607	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	G	NM_024786		850645	-1	no_errors	ENST00000283441	ensembl	human	known	70_37	missense	SNP	0.002	A	A	850645	G	A	850645	3	1	137	1	0	0	0	0	1	0	0	0	17631	1203	42	4	1213	4	ZDHHC11	5	850645	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		850645	180064615	55	22666										
TNPO1	3842	genome.wustl.edu	37	chr5	72196870	72196870	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttccgtggaatttgtaccatGatcagtgtgaatcccagtgg	11	8	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:72196870G>T	ENST00000337273.5	+	22	2910	c.2484G>T	c.(2482-2484)atG>atT	p.M828I	TNPO1_ENST00000506351.2_Missense_Mutation_p.M820I|TNPO1_ENST00000523768.1_Missense_Mutation_p.M778I|TNPO1_ENST00000454282.1_Missense_Mutation_p.M778I	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	828					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTTGTACCATGATCAGTGTGA	0.328																																																	0													90	87	88					5																	72196870		2203	4300	6503	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2484G>T	5.37:g.72196870G>T	ENSP00000336712:p.Met828Ile		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.M828I	ENST00000337273.5	37	c.2484	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449002	0.63178	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.8	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.62209	1.925	0.80722	D	1	B;B	0.32338	0.365;0.083	B;B	0.28465	0.09;0.043	T	0.41893	-0.9483	10	0.56958	D	0.05	-18.8415	15.305	0.73985	0.0673:0.0:0.9327:0.0	.	778;828	Q92973-3;Q92973	.;TNPO1_HUMAN	I	828;778;778;820;339	ENSP00000336712:M828I;ENSP00000398524:M778I;ENSP00000428899:M778I;ENSP00000425118:M820I	ENSP00000336712:M828I	M	+	3	0	TNPO1	72232626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.384000	0.97219	1.596000	0.50062	0.650000	0.86243	ATG	TNPO1	-	superfamily_ARM-type_fold		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	G	NM_002270		72196870	1	no_errors	ENST00000337273	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72196870	G	T	72196870	3	4	137	1	0	0	0	0	1	0	0	0	16365	1290	45	3	2570	3	TNPO1	5	72196870	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	71346225	72196870	108718390	56	22667										
GPR98	84059	genome.wustl.edu	37	chr5	90006807	90006807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgttttttaagattcagaagGtttgactgcacaagttatta	8	4	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:90006807G>A	ENST00000405460.2	+	40	8930	c.8834G>A	c.(8833-8835)gGt>gAt	p.G2945D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2945					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATTCAGAAGGTTTGACTGCA	0.348																																																	0													58	53	55					5																	90006807		1811	4066	5877	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8834G>A	5.37:g.90006807G>A	ENSP00000384582:p.Gly2945Asp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G2945D	ENST00000405460.2	37	c.8834	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.753525|4.753525	0.89753|0.89753	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.34275|.	1.37|.	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.044564|.	0.85682|.	D|.	0.000000|.	D|D	0.82435|0.82435	0.5036|0.5036	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76071|.	0.987;0.94|.	T|T	0.81491|0.81491	-0.0909|-0.0909	10|5	0.33141|.	T|.	0.24|.	.|.	20.5141|20.5141	0.99211|0.99211	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2945;2945|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	D|I	2945|511	ENSP00000384582:G2945D|.	ENSP00000296619:G2945D|.	G|V	+|+	2|1	0|0	GPR98|GPR98	90042563|90042563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.784000|0.784000	0.44337|0.44337	7.540000|7.540000	0.82074|0.82074	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	GGT|GTT	GPR98	-	NULL		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90006807	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90006807	G	A	90006807	3	1	137	1	0	0	0	0	1	0	0	0	6741	1261	44	4	8992	4	GPR98	5	90006807	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	17809937	90006807	90908453	57	22668										
CSNK1G3	1456	genome.wustl.edu	37	chr5	122927040	122927040	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cagtgggtgcagttcagcaaGatcctgctctgtcatcaaac	10	11	4	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:122927040G>A	ENST00000361991.2	+	9	1048	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	CSNK1G3_ENST00000510842.2_Missense_Mutation_p.D341N|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.D228N|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.D265N|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.D340N|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.D340N|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.D340N|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.D340N|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.D340N			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	340					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGTTCAGCAAGATCCTGCTCT	0.363																																					Pancreas(187;2868 2964 4353 6297)												0													95	83	87					5																	122927040		2203	4300	6503	SO:0001583	missense	1456			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.1018G>A	5.37:g.122927040G>A	ENSP00000354942:p.Asp340Asn		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,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.D340N	ENST00000361991.2	37	c.1018	CCDS4135.1	5	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908736	0.52439	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.51817	0.7;0.69;0.75;1.24;1.1;0.75;0.72;0.69;0.7	4.24	4.24	0.50183	Casein kinase 1 gamma C-terminal (1);	0.397752	0.22978	N	0.053348	T	0.49047	0.1534	L	0.34521	1.04	0.43457	D	0.995655	B;B;B;B;B;P	0.36789	0.001;0.001;0.14;0.226;0.005;0.57	B;B;B;B;B;P	0.47299	0.021;0.02;0.297;0.255;0.033;0.543	T	0.42015	-0.9476	10	0.32370	T	0.25	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	265;341;228;340;340;340	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	N	340;340;340;228;265;340;341;340;340	ENSP00000378807:D340N;ENSP00000378806:D340N;ENSP00000334735:D340N;ENSP00000421385:D228N;ENSP00000421998:D265N;ENSP00000429412:D340N;ENSP00000423838:D341N;ENSP00000354942:D340N;ENSP00000353904:D340N	ENSP00000334735:D340N	D	+	1	0	CSNK1G3	122954939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.575000	0.53870	2.637000	0.89404	0.650000	0.86243	GAT	CSNK1G3	-	pfam_Casein_kinase-1_gamma_C		0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSNK1G3	HGNC	protein_coding	OTTHUMT00000250900.1	G	NM_004384		122927040	1	no_errors	ENST00000360683	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122927040	G	A	122927040	3	1	137	1	0	0	0	0	1	0	0	0	3961	942	33	1	1052	1	CSNK1G3	5	122927040	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	32920233	122927040	57988220	58	22669										
FBN2	2201	genome.wustl.edu	37	chr5	127641308	127641308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccgctggcagagattatcacCattgctgcactcatctatat	7	12	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:127641308C>T	ENST00000508053.1	-	50	6543	c.5569G>A	c.(5569-5571)Ggt>Agt	p.G1857S	FBN2_ENST00000262464.4_Missense_Mutation_p.G1857S			P35556	FBN2_HUMAN	fibrillin 2	1857	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGATTATCACCATTGCTGCAC	0.428																																																	0													99	99	99					5																	127641308		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5569G>A	5.37:g.127641308C>T	ENSP00000424571:p.Gly1857Ser		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.G1857S	ENST00000508053.1	37	c.5569	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861189	0.91433	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92911	-3.13;-3.13	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.94768	0.8311	L	0.56124	1.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91888	0.5521	10	0.21540	T	0.41	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	1857	P35556	FBN2_HUMAN	S	1857	ENSP00000262464:G1857S;ENSP00000424571:G1857S	ENSP00000262464:G1857S	G	-	1	0	FBN2	127669207	1.000000	0.71417	0.862000	0.33874	0.930000	0.56654	5.445000	0.66594	2.937000	0.99478	0.650000	0.86243	GGT	FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127641308	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127641308	C	T	127641308	3	4	137	1	0	0	0	0	1	0	0	0	5721	594	21	4	3257	4	FBN2	5	127641308	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	4714268	127641308	53273952	59	22670										
AFF4	27125	genome.wustl.edu	37	chr5	132272780	132272780	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	actttgtatggctctgcaaaGagaggagagctaggtgggaa	15	5	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:132272780G>C	ENST00000265343.5	-	2	481	c.102C>G	c.(100-102)ctC>ctG	p.L34L	AFF4_ENST00000378595.3_Silent_p.L34L|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	34					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTCTGCAAAGAGAGGAGAGC	0.438																																					Ovarian(126;889 1733 2942 10745 11605)												0													108	92	97					5																	132272780		2203	4300	6503	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.102C>G	5.37:g.132272780G>C			B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	pfam_TF_AF4/FMR2	p.L34	ENST00000265343.5	37	c.102	CCDS4164.1	5																																																																																			AFF4	-	pfam_TF_AF4/FMR2		0.438	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	G	NM_014423		132272780	-1	no_errors	ENST00000265343	ensembl	human	known	70_37	silent	SNP	1.000	C	C	132272780	G	C	132272780	2	2	137	1	0	0	0	0	0	0	0	1	359	929	33	1		1	AFF4	5	132272780	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	4631472	132272780	48642480	60	22671										
PCDHB4	56131	genome.wustl.edu	37	chr5	140502562	140502562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cagatggaggaggcctttctGgaaaaggcactgtagtcata	13	7	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:140502562G>C	ENST00000194152.1	+	1	982	c.982G>C	c.(982-984)Gga>Cga	p.G328R	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCTTTCTGGAAAAGGCAC	0.413																																																	0													164	179	174					5																	140502562		2203	4300	6503	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.982G>C	5.37:g.140502562G>C	ENSP00000194152:p.Gly328Arg		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G328R	ENST00000194152.1	37	c.982	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941264	0.53079	.	.	ENSG00000081818	ENST00000194152	T	0.54479	0.57	4.41	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.72078	0.3416	M	0.80332	2.49	0.39355	D	0.965821	D	0.89917	1.0	D	0.87578	0.998	T	0.77950	-0.2395	9	0.87932	D	0	.	13.0627	0.59015	0.0791:0.0:0.9209:0.0	.	328	Q9Y5E5	PCDB4_HUMAN	R	328	ENSP00000194152:G328R	ENSP00000194152:G328R	G	+	1	0	PCDHB4	140482746	0.011000	0.17503	0.995000	0.50966	0.992000	0.81027	1.283000	0.33237	1.201000	0.43203	0.650000	0.86243	GGA	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.413	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	G	NM_018938		140502562	1	no_errors	ENST00000194152	ensembl	human	known	70_37	missense	SNP	0.932	C	C	140502562	G	C	140502562	3	2	137	1	0	0	0	0	1	0	0	0	11568	1349	47	4	984	4	PCDHB4	5	140502562	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	8229782	140502562	40412698	61	22672										
GABRB2	2561	genome.wustl.edu	37	chr5	160886733	160886733	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atcgttcaggaaataggtatCaggcacccagagctggtctg	12	9	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:160886733C>G	ENST00000393959.1	-	4	354	c.355G>C	c.(355-357)Gat>Cat	p.D119H	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000274547.2_Missense_Mutation_p.D119H|GABRB2_ENST00000353437.6_Missense_Mutation_p.D119H|GABRB2_ENST00000517901.1_Missense_Mutation_p.D56H|GABRB2_ENST00000520240.1_Missense_Mutation_p.D119H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	119	Agonist binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATAGGTATCAGGCACCCAG	0.463																																																	0													99	89	92					5																	160886733		2203	4300	6503	SO:0001583	missense	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.355G>C	5.37:g.160886733C>G	ENSP00000377531:p.Asp119His		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.D119H	ENST00000393959.1	37	c.355	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811564	0.90707	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96940	0.9687	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	119;56;119;119	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	119;119;119;119;56	ENSP00000377531:D119H;ENSP00000274547:D119H;ENSP00000274546:D119H;ENSP00000429320:D119H;ENSP00000430532:D56H	ENSP00000274547:D119H	D	-	1	0	GABRB2	160819311	1.000000	0.71417	0.910000	0.35882	0.976000	0.68499	7.650000	0.83521	2.455000	0.83008	0.655000	0.94253	GAT	GABRB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.463	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1	C			160886733	-1	no_errors	ENST00000274547	ensembl	human	known	70_37	missense	SNP	1.000	G	G	160886733	C	G	160886733	3	3	137	1	0	0	0	0	1	0	0	0	6185	826	29	1	1211	1	GABRB2	5	160886733	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	20384171	160886733	20028527	62	22673										
RNF44	22838	genome.wustl.edu	37	chr5	175956299	175956299	+	Frame_Shift_Del	DEL	T	T	-													0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcagtgttaccttcaaccacTtgtcaacacacttggtgtgg							TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:175956299delT	ENST00000274811.4	-	10	1750	c.1226delA	c.(1225-1227)aagfs	p.K409fs	RNF44_ENST00000537487.1_Frame_Shift_Del_p.K328fs	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	409							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCAACCACTTGTCAACACA	0.592																																																	0													68	65	66					5																	175956299		2203	4300	6503	SO:0001589	frameshift_variant	22838			AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"RING-type (C3HC4) zinc fingers"	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1226delA	5.37:g.175956299delT	ENSP00000274811:p.Lys409fs		B4DYE0|Q8ND05|Q9UPQ2	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K409fs	ENST00000274811.4	37	c.1226	CCDS4404.1	5																																																																																			RNF44	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.592	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF44	HGNC	protein_coding	OTTHUMT00000253156.2	T			175956299	-1	no_errors	ENST00000274811	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	175956299	T	-	175956299	7	5	137	1	0	1	0	1	0	0	0	0	13526	1609	56	0	80	0	RNF44	5	175956299	Frame_Shift_Del	DEL	T	TCGA-FU-A40J-01A-11D-A243-09	15069566	175956299	4958961	63	22674										
DBN1	1627	genome.wustl.edu	37	chr5	176886203	176886203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caggggtggaggcggtgctgGagtcagacgggctccgcgtg	21	9	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr5:176886203G>A	ENST00000309007.5	-	11	1241	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	DBN1_ENST00000393565.1_Missense_Mutation_p.S387F|DBN1_ENST00000512501.1_Missense_Mutation_p.S73F|DBN1_ENST00000393563.4_Missense_Mutation_p.S73F|DBN1_ENST00000292385.5_Missense_Mutation_p.S343F	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	341					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGGTGCTGGAGTCAGACGG	0.692																																																	0													81	82	81					5																	176886203		2203	4300	6503	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1022C>T	5.37:g.176886203G>A	ENSP00000308532:p.Ser341Phe		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.S343F	ENST00000309007.5	37	c.1028	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728784	0.48833	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.46451	1.24;1.27;1.26;0.87;1.0	4.58	4.58	0.56647	.	0.833984	0.10586	N	0.657281	T	0.53610	0.1807	L	0.27053	0.805	0.41206	D	0.986403	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.79784	0.961;0.993;0.915;0.961	T	0.53975	-0.8362	10	0.87932	D	0	-15.1764	14.6573	0.68844	0.0:0.0:1.0:0.0	.	291;387;341;343	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	F	341;343;387;73;73	ENSP00000308532:S341F;ENSP00000292385:S343F;ENSP00000377195:S387F;ENSP00000423208:S73F;ENSP00000377193:S73F	ENSP00000292385:S343F	S	-	2	0	DBN1	176818809	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	2.181000	0.42547	2.260000	0.74910	0.462000	0.41574	TCC	DBN1	-	NULL		0.692	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	G	NM_080881		176886203	-1	no_errors	ENST00000292385	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176886203	G	A	176886203	3	1	137	1	0	0	0	0	1	0	0	0	4257	1174	41	1	943	1	DBN1	5	176886203	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	929904	176886203	4029057	64	22675										
TMEM14B	81853	genome.wustl.edu	37	chr6	10749477	10749477	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttctggactgagaagagaaGaatggagaagcccctcttcc	11	9	2	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:10749477G>A	ENST00000379542.5	+	0	166				TMEM14B_ENST00000481240.1_5'UTR|RP11-637O19.3_ENST00000480294.1_5'UTR|TMEM14B_ENST00000491103.1_Intron|TMEM14B_ENST00000473276.1_5'UTR|TMEM14B_ENST00000475942.1_5'UTR|SYCP2L_ENST00000543878.1_5'UTR|TMEM14B_ENST00000467317.1_5'UTR|RP11-421M1.8_ENST00000606522.1_lincRNA|TMEM14B_ENST00000461342.1_5'UTR|TMEM14B_ENST00000379530.3_5'UTR	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GAGAAGAGAAGAATGGAGAAG	0.498																																																	0													76	85	82					6																	10749477		2203	4300	6503	SO:0001623	5_prime_UTR_variant	81853			AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.-2G>A	6.37:g.10749477G>A			Q5THN7|Q5THN8|Q96IX7|Q9BVN8	RNA	SNP	-	NULL	ENST00000379542.5	37	NULL	CCDS4515.1	6																																																																																			TMEM14B	-	-		0.498	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14B	HGNC	protein_coding	OTTHUMT00000039836.1	G	NM_030969		10749477	1	no_errors	ENST00000492297	ensembl	human	known	70_37	rna	SNP	0.913	A	A	10749477	G	A	10749477	1	1	137	0	1	0	0	0	0	0	0	0	16094	957	33	1		1	TMEM14B	6	10749477	5'UTR	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		10749477	160365590	65	22676										
GMNN	51053	genome.wustl.edu	37	chr6	24784710	24784710	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caaaaggacaatgaaattgcCcgcctgaaaaaggagaataa	9	7	0	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:24784710C>G	ENST00000230056.3	+	6	728	c.396C>G	c.(394-396)gcC>gcG	p.A132A	GMNN_ENST00000356509.3_Silent_p.A132A	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	132	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						ATGAAATTGCCCGCCTGAAAA	0.323																																																	0													78	88	85					6																	24784710		2203	4299	6502	SO:0001819	synonymous_variant	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.396C>G	6.37:g.24784710C>G			B3KMM8|Q9H1Z1	Silent	SNP	pfam_Geminin_fam	p.A132	ENST00000230056.3	37	c.396	CCDS4560.1	6																																																																																			GMNN	-	pfam_Geminin_fam		0.323	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	C	NM_015895		24784710	1	no_errors	ENST00000230056	ensembl	human	known	70_37	silent	SNP	0.999	G	G	24784710	C	G	24784710	2	3	137	1	0	0	0	0	0	0	0	1	6512	610	22	4		4	GMNN	6	24784710	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	14035233	24784710	146330357	66	22677										
HIST1H4C	8364	genome.wustl.edu	37	chr6	26104486	26104486	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tctgtatggcttcggcggctGaatctaagaatacgcggtct	12	9	3	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:26104486G>A	ENST00000377803.2	+	1	383	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TTCGGCGGCTGAATCTAAGAA	0.483																																																	0													43	41	41					6																	26104486		2203	4300	6503	SO:0001819	synonymous_variant	8364			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.311G>A	6.37:g.26104486G>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104	ENST00000377803.2	37	c.311	CCDS4583.1	6																																																																																			HIST1H4C	-	NULL		0.483	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	HGNC	protein_coding	OTTHUMT00000040092.2	G	NM_003542		26104486	1	no_errors	ENST00000377803	ensembl	human	known	70_37	silent	SNP	0.258	A	A	26104486	G	A	26104486	2	1	137	1	0	0	0	0	0	0	0	1	7187	1285	45	1		1	HIST1H4C	6	26104486	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1319776	26104486	145010581	67	22678										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834864	27834864	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gtcttcttcactgcctttttCgcccctgcagccttcttggc	7	16	4	0	rs368971921		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:27834864C>T	ENST00000331442.3	-	1	495	c.444G>A	c.(442-444)gcG>gcA	p.A148A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	148					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.A148A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTGCCTTTTTCGCCCCTGCAG	0.627																																																	1	Substitution - coding silent(1)	endometrium(1)											96	111	106					6																	27834864		2203	4299	6502	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.444G>A	6.37:g.27834864C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A148	ENST00000331442.3	37	c.444	CCDS4635.1	6																																																																																			HIST1H1B	-	NULL		0.627	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834864	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	0.007	T	T	27834864	C	T	27834864	2	4	137	1	0	0	0	0	0	0	0	1	7143	871	31	1		1	HIST1H1B	6	27834864	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1730378	27834864	143280203	68	22679										
ZSCAN23	222696	genome.wustl.edu	37	chr6	28402379	28402379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atgcttaatgaggactgaacGtcgactaaaactcttattgc	8	8	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:28402379G>A	ENST00000289788.4	-	4	1178	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	345					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						AGGACTGAACGTCGACTAAAA	0.443																																																	0													143	121	128					6																	28402379		692	1591	2283	SO:0001583	missense	222696			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.1033C>T	6.37:g.28402379G>A	ENSP00000289788:p.Arg345Cys		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R345C	ENST00000289788.4	37	c.1033	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927718	0.52759	.	.	ENSG00000187987	ENST00000289788	T	0.08634	3.07	3.93	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34906	N	0.003592	T	0.11707	0.0285	M	0.76938	2.355	0.09310	N	1	D	0.89917	1.0	P	0.60415	0.874	T	0.02505	-1.1149	10	0.59425	D	0.04	.	10.0008	0.41927	0.0:0.0:0.6395:0.3605	.	345	Q3MJ62	ZSC23_HUMAN	C	345	ENSP00000289788:R345C	ENSP00000289788:R345C	R	-	1	0	ZSCAN23	28510358	0.000000	0.05858	0.995000	0.50966	0.993000	0.82548	-0.302000	0.08221	0.782000	0.33613	0.650000	0.86243	CGT	ZSCAN23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	G	XM_167147		28402379	-1	no_errors	ENST00000289788	ensembl	human	known	70_37	missense	SNP	0.041	A	A	28402379	G	A	28402379	3	1	137	1	0	0	0	0	1	0	0	0	18265	1145	40	2	140	2	ZSCAN23	6	28402379	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	567515	28402379	142712688	69	22680										
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gttttccaagtttcctgtgaCgctgggtcagcccaacaccc	9	14	1	1	rs144060347		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTTCCTGTGACGCTGGGTCAG	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		24198	0		0	False		,,,				2504	0																0								C	MET/THR	1,3021		0,1,1510	193	152	167		371	-6.1	0.1	6	dbSNP_134	167	0,5418		0,0,2709	no	missense	HLA-DQA2	NM_020056.4	81	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	benign	124/256	32713607	1,8439	1511	2709	4220	SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.371C>T	6.37:g.32713607C>T	ENSP00000364076:p.Thr124Met		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.T124M	ENST00000374940.3	37	c.371	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	1.637	-0.517475	0.04171	3.31E-4	0.0	ENSG00000237541	ENST00000374940	T	0.02944	4.1	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.076460	0.07279	N	0.870376	T	0.00356	0.0011	N	0.03304	-0.355	0.19575	N	0.999965	B	0.12630	0.006	B	0.08055	0.003	T	0.47674	-0.9099	10	0.27785	T	0.31	.	1.4748	0.02424	0.1405:0.315:0.142:0.4025	.	124	P01906	DQA2_HUMAN	M	124	ENSP00000364076:T124M	ENSP00000364076:T124M	T	+	2	0	HLA-DQA2	32821585	0.016000	0.18221	0.086000	0.20670	0.026000	0.11368	-0.799000	0.04560	-0.954000	0.03640	0.174000	0.16983	ACG	HLA-DQA2	-	pfam_Ig_C1-set,pfscan_Ig-like		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	C	NM_020056		32713607	1	no_errors	ENST00000374940	ensembl	human	known	70_37	missense	SNP	0.664	T	T	32713607	C	T	32713607	3	4	137	1	0	0	0	0	1	0	0	0	7225	536	19	2	381	2	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	4311228	32713607	138401460	70	22681										
KCTD20	222658	genome.wustl.edu	37	chr6	36452603	36452604	+	Splice_Site	INS	-	-	A													0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttcgcattggaattgaaggtINSaaaaaaaaaaaaaaaatccc					rs11450552|rs528951573|rs201092661		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:36452603_36452604insA	ENST00000373731.2	+	7	1358		c.e7+2		KCTD20_ENST00000544295.1_Splice_Site|KCTD20_ENST00000536244.1_Splice_Site|KCTD20_ENST00000449081.2_Splice_Site|KCTD20_ENST00000474988.1_Splice_Site	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20						protein homooligomerization (GO:0051260)			p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GAATTGAAGGTAAAAAAAAAAA	0.376																																																	1	Unknown(1)	lung(1)																																								SO:0001630	splice_region_variant	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.967+2->A	6.37:g.36452614_36452614dupA			B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Splice_Site	INS	-	e6+2	ENST00000373731.2	37	c.967+2_967+1	CCDS4821.1	6																																																																																			KCTD20	-	-		0.376	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	-	NM_173562	Intron	36452604	1	no_errors	ENST00000373731	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.447	A	A	36452604	-	A	36452603	8	5	137	1	0	1	1	0	0	0	1	0	8128	1652	57	0	991	0	KCTD20	6	36452603	Splice_Site	INS	-	TCGA-FU-A40J-01A-11D-A243-09	3738996	36452603	134662464	71	22682										
C6orf89	221477	genome.wustl.edu	37	chr6	36870110	36870110	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cacacctggcgctcactcatCcatcacattaggctgatgtc	7	15	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:36870110C>T	ENST00000480824.2	+	4	597	c.303C>T	c.(301-303)atC>atT	p.I101I	C6orf89_ENST00000355190.3_Silent_p.I108I|C6orf89_ENST00000373685.1_Silent_p.I101I|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	101					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GCTCACTCATCCATCACATTA	0.493																																																	0													149	133	138					6																	36870110		2203	4300	6503	SO:0001819	synonymous_variant	221477			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.303C>T	6.37:g.36870110C>T			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	NULL	p.I108	ENST00000480824.2	37	c.324		6																																																																																			C6orf89	-	NULL		0.493	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	C	NM_152734		36870110	1	no_errors	ENST00000355190	ensembl	human	known	70_37	silent	SNP	0.992	T	T	36870110	C	T	36870110	2	4	137	1	0	0	0	0	0	0	0	1	2378	845	30	1		1	C6orf89	6	36870110	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	417507	36870110	134244957	72	22683										
C6orf142	90523	genome.wustl.edu	37	chr6	54034338	54034338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcatacagactcctacaactCttccaagagcagctggtcga	7	13	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:54034338C>T	ENST00000274897.5	+	8	1020	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	MLIP_ENST00000358276.5_Missense_Mutation_p.L203F|MLIP_ENST00000370877.2_Missense_Mutation_p.L199F|MLIP_ENST00000509997.1_Missense_Mutation_p.L157F|MLIP_ENST00000502396.1_Missense_Mutation_p.L838F|MLIP_ENST00000370876.2_Missense_Mutation_p.L147F|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Missense_Mutation_p.L827F	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	303						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCCTACAACTCTTCCAAGAGC	0.338																																																	0													61	65	64					6																	54034338		2203	4296	6499	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.907C>T	6.37:g.54034338C>T	ENSP00000274897:p.Leu303Phe		B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.L303F	ENST00000274897.5	37	c.907	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	5.352	0.250295	0.10130	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.41	2.46	0.29980	.	0.469421	0.20317	N	0.094720	T	0.31918	0.0812	L	0.50333	1.59	0.09310	N	0.999998	D;P;D;D	0.58970	0.971;0.944;0.984;0.971	P;P;P;P	0.59056	0.839;0.715;0.851;0.839	T	0.11421	-1.0588	10	0.36615	T	0.2	-3.4391	13.3406	0.60542	0.0:0.5382:0.4618:0.0	.	838;147;303;827	Q5VWP3-3;Q5VWP3-2;Q5VWP3;D6RE05	.;.;MLIP_HUMAN;.	F	303;827;199;157;147;137;838;203;137;232	ENSP00000274897:L303F;ENSP00000425142:L827F;ENSP00000359914:L199F;ENSP00000427584:L157F;ENSP00000359913:L147F;ENSP00000411917:L137F;ENSP00000426290:L838F;ENSP00000351019:L203F;ENSP00000421444:L232F	ENSP00000274897:L303F	L	+	1	0	MLIP	54142297	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	0.496000	0.22499	0.802000	0.34089	0.650000	0.86243	CTT	MLIP	-	NULL		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	C	NM_138569		54034338	1	no_errors	ENST00000274897	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54034338	C	T	54034338	3	4	137	1	0	0	0	0	1	0	0	0	2338	913	32	1	937	1	C6orf142	6	54034338	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	17164228	54034338	117080729	73	22684										
VIP	7432	genome.wustl.edu	37	chr6	153073374	153073374	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcttctcagtgtgctcttctCacagacttcggcatggcctc	8	14	4	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr6:153073374C>G	ENST00000367244.3	+	2	234	c.62C>G	c.(61-63)tCa>tGa	p.S21*	VIP_ENST00000367243.3_Nonsense_Mutation_p.S21*	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	21					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GTGCTCTTCTCACAGACTTCG	0.468																																																	0													167	138	148					6																	153073374		2203	4300	6503	SO:0001587	stop_gained	7432				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.62C>G	6.37:g.153073374C>G	ENSP00000356213:p.Ser21*		Q5TCY8|Q5TCY9|Q96QK3	Nonsense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.S21*	ENST00000367244.3	37	c.62	CCDS5240.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952654	0.73787	.	.	ENSG00000146469	ENST00000367244;ENST00000367243	.	.	.	5.61	5.61	0.85477	.	0.241288	0.36740	N	0.002431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.7848	11.8384	0.52340	0.0:0.9186:0.0:0.0814	.	.	.	.	X	21	.	ENSP00000356212:S21X	S	+	2	0	VIP	153115067	0.991000	0.36638	0.937000	0.37676	0.001000	0.01503	3.035000	0.49759	2.645000	0.89757	0.585000	0.79938	TCA	VIP	-	NULL		0.468	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1	C			153073374	1	no_errors	ENST00000367244	ensembl	human	known	70_37	nonsense	SNP	0.995	G	G	153073374	C	G	153073374	4	3	137	1	0	0	0	0	0	1	0	0	17198	838	29	1	64	1	VIP	6	153073374	Nonsense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	99039036	153073374	18041693	74	22685										
ZNF804B	219578	genome.wustl.edu	37	chr7	88966314	88966314	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aacagctaaatgaagtgaaaGaggccttaaatgtgtccaca	9	7	0	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr7:88966314G>T	ENST00000333190.4	+	4	4627	c.4018G>T	c.(4018-4020)Gag>Tag	p.E1340*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1340							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGAAGTGAAAGAGGCCTTAAA	0.353										HNSCC(36;0.09)																																							0													60	61	60					7																	88966314		2203	4299	6502	SO:0001587	stop_gained	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.4018G>T	7.37:g.88966314G>T	ENSP00000329638:p.Glu1340*		B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E1340*	ENST00000333190.4	37	c.4018	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.621012	0.99583	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.44711	D	0.997706	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.7339	19.3014	0.94145	0.0:0.0:1.0:0.0	.	.	.	.	X	1340	.	ENSP00000329638:E1340X	E	+	1	0	ZNF804B	88804250	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.862000	0.48388	2.854000	0.98071	0.655000	0.94253	GAG	ZNF804B	-	NULL		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	G	NM_181646		88966314	1	no_errors	ENST00000333190	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	88966314	G	T	88966314	4	4	137	1	0	0	0	0	0	1	0	0	18201	943	33	3	4032	3	ZNF804B	7	88966314	Nonsense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		88966314	70172349	75	22686										
PDK4	5166	genome.wustl.edu	37	chr7	95219000	95219000	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aggtgagaaggaacatacacGatgtgaattggttggtctgg	15	4	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr7:95219000G>A	ENST00000005178.5	-	7	920	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	241	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GAACATACACGATGTGAATTG	0.289																																																	0													101	112	109					7																	95219000		2203	4298	6501	SO:0001819	synonymous_variant	5166			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.723C>T	7.37:g.95219000G>A				Silent	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.I241	ENST00000005178.5	37	c.723	CCDS5643.1	7																																																																																			PDK4	-	superfamily_ATPase-like_ATP-bd		0.289	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	HGNC	protein_coding	OTTHUMT00000333298.1	G	NM_002612		95219000	-1	no_errors	ENST00000005178	ensembl	human	known	70_37	silent	SNP	0.453	A	A	95219000	G	A	95219000	2	1	137	1	0	0	0	0	0	0	0	1	11702	1048	37	1		1	PDK4	7	95219000	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	6252686	95219000	63919663	76	22687										
CSMD1	64478	genome.wustl.edu	37	chr8	4277554	4277554	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gtgaggatagatcctgtactCactatagaggagggcagctg	14	7	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr8:4277554C>T	ENST00000520002.1	-	3	891	c.336G>A	c.(334-336)gtG>gtA	p.V112V	CSMD1_ENST00000602557.1_Silent_p.V112V|CSMD1_ENST00000602723.1_Silent_p.V112V|CSMD1_ENST00000539096.1_Silent_p.V112V|CSMD1_ENST00000542608.1_Silent_p.V112V|CSMD1_ENST00000400186.3_Silent_p.V112V|CSMD1_ENST00000537824.1_Silent_p.V112V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	112	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCCTGTACTCACTATAGAGG	0.383																																																	0													64	61	62					8																	4277554		1877	4106	5983	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.336G>A	8.37:g.4277554C>T			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.V112	ENST00000520002.1	37	c.336		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		4277554	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	silent	SNP	0.997	T	T	4277554	C	T	4277554	2	4	137	1	0	0	0	0	0	0	0	1	3949	813	29	1		1	CSMD1	8	4277554	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		4277554	142086468	77	22688										
USP17L2	377630	genome.wustl.edu	37	chr8	11995421	11995421	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttgttgcctgtgacatcggaGaatctcttcaagacaaggat	10	8	2	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr8:11995421G>C	ENST00000333796.3	-	1	1165	c.849C>G	c.(847-849)ttC>ttG	p.F283L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	283	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGACATCGGAGAATCTCTTCA	0.493																																																	0													26	30	29					8																	11995421		1315	2977	4292	SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.849C>G	8.37:g.11995421G>C	ENSP00000333329:p.Phe283Leu			Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.F283L	ENST00000333796.3	37	c.849	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	G	11.47	1.646978	0.29246	.	.	ENSG00000223443	ENST00000333796	T	0.44083	0.93	0.745	0.745	0.18359	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.071226	0.56097	D	0.000031	T	0.67979	0.2951	H	0.97340	3.985	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.57429	-0.7813	10	0.87932	D	0	.	3.144	0.06466	0.3214:0.0:0.6786:0.0	.	283	Q6R6M4	U17L2_HUMAN	L	283	ENSP00000333329:F283L	ENSP00000333329:F283L	F	-	3	2	USP17L2	12032830	0.791000	0.28800	0.022000	0.16811	0.011000	0.07611	1.051000	0.30417	0.733000	0.32492	0.472000	0.43445	TTC	USP17L2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.493	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	G	NM_201402		11995421	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	missense	SNP	0.045	C	C	11995421	G	C	11995421	3	2	137	1	0	0	0	0	1	0	0	0	17079	933	33	1	747	1	USP17L2	8	11995421	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	7717867	11995421	134368601	78	22689										
GPR124	25960	genome.wustl.edu	37	chr8	37696479	37696479	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cctgccctttcccaggagctGagcgcctttcccagggaggt	12	15	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr8:37696479G>C	ENST00000412232.2	+	15	2278	c.2265G>C	c.(2263-2265)ctG>ctC	p.L755L	GPR124_ENST00000315215.7_Silent_p.L538L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	755	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGGAGCTGAGCGCCTTTC	0.677																																																	0													35	38	37					8																	37696479		2203	4300	6503	SO:0001819	synonymous_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2265G>C	8.37:g.37696479G>C			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.L755	ENST00000412232.2	37	c.2265	CCDS6097.2	8																																																																																			GPR124	-	pfscan_GPS_dom		0.677	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G			37696479	1	no_errors	ENST00000412232	ensembl	human	known	70_37	silent	SNP	1.000	C	C	37696479	G	C	37696479	2	2	137	1	0	0	0	0	0	0	0	1	6657	1277	45	1		1	GPR124	8	37696479	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	25701058	37696479	108667543	79	22690										
TOX	9760	genome.wustl.edu	37	chr8	59851877	59851877	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttaccacagaaatggaattaGaaagcagtgttccatcctgg	9	8	0	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr8:59851877G>T	ENST00000361421.1	-	3	615	c.395C>A	c.(394-396)tCt>tAt	p.S132Y		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	132						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AATGGAATTAGAAAGCAGTGT	0.488																																					Pancreas(161;610 1969 17913 21374 22725)												0													113	113	113					8																	59851877		2203	4300	6503	SO:0001583	missense	9760				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.395C>A	8.37:g.59851877G>T	ENSP00000354842:p.Ser132Tyr		Q96AV5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S132Y	ENST00000361421.1	37	c.395	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593858	0.46214	.	.	ENSG00000198846	ENST00000361421	T	0.53640	0.61	5.86	5.86	0.93980	.	0.363680	0.29594	N	0.011712	T	0.46405	0.1391	L	0.43152	1.355	0.47949	D	0.999558	B	0.22480	0.07	B	0.29524	0.103	T	0.26538	-1.0100	9	.	.	.	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	132	O94900	TOX_HUMAN	Y	132	ENSP00000354842:S132Y	.	S	-	2	0	TOX	60014431	1.000000	0.71417	0.785000	0.31869	0.735000	0.41995	8.159000	0.89651	2.777000	0.95525	0.591000	0.81541	TCT	TOX	-	NULL		0.488	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	G	NM_014729		59851877	-1	no_errors	ENST00000361421	ensembl	human	known	70_37	missense	SNP	0.998	T	T	59851877	G	T	59851877	3	4	137	1	0	0	0	0	1	0	0	0	16408	942	33	3	1213	3	TOX	8	59851877	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	22155398	59851877	86512145	80	22691										
EYA1	2138	genome.wustl.edu	37	chr8	72128979	72128979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcttttacccgtctgtagcgGaaggccaactttctcatcca	7	13	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr8:72128979G>A	ENST00000340726.3	-	14	1947	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	EYA1_ENST00000388741.2_Silent_p.F402F|EYA1_ENST00000388743.2_Silent_p.F435F|EYA1_ENST00000388742.4_Silent_p.F436F|EYA1_ENST00000419131.1_Silent_p.F401F|EYA1_ENST00000303824.7_Silent_p.F430F|EYA1_ENST00000388740.3_Silent_p.F403F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	436					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTCTGTAGCGGAAGGCCAACT	0.473																																																	0													192	167	176					8																	72128979		2203	4300	6503	SO:0001819	synonymous_variant	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1308C>T	8.37:g.72128979G>A			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.F436	ENST00000340726.3	37	c.1308	CCDS34906.1	8																																																																																			EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA		0.473	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	G	NM_000503, NM_172060		72128979	-1	no_errors	ENST00000340726	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72128979	G	A	72128979	2	1	137	1	0	0	0	0	0	0	0	1	5340	1165	41	1		1	EYA1	8	72128979	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	12277102	72128979	74235043	81	22692										
KCNQ3	3786	genome.wustl.edu	37	chr8	133142219	133142219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gtgcatatccacgaggaagtCcagcttcttccccatgtcct	8	14	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr8:133142219C>T	ENST00000388996.4	-	15	2329	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.D625N|KCNQ3_ENST00000521134.1_Missense_Mutation_p.D517N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	637					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACGAGGAAGTCCAGCTTCTTC	0.512																																																	0													68	63	64					8																	133142219		2203	4300	6503	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1909G>A	8.37:g.133142219C>T	ENSP00000373648:p.Asp637Asn		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D637N	ENST00000388996.4	37	c.1909	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757470	0.89843	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99714	-6.5;-6.5;-6.5	5.73	5.73	0.89815	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.048944	0.85682	D	0.000000	D	0.99560	0.9842	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98635	1.0673	10	0.62326	D	0.03	-25.2433	18.8866	0.92381	0.0:1.0:0.0:0.0	.	625;637	E7ET42;O43525	.;KCNQ3_HUMAN	N	637;517;625;614;516	ENSP00000373648:D637N;ENSP00000429799:D517N;ENSP00000428790:D625N	ENSP00000373648:D637N	D	-	1	0	KCNQ3	133211401	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.294000	0.78760	2.712000	0.92718	0.555000	0.69702	GAC	KCNQ3	-	pfam_K_chnl_volt-dep_KCNQ_C		0.512	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	C	NM_004519		133142219	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133142219	C	T	133142219	3	4	137	1	0	0	0	0	1	0	0	0	8104	855	30	1	713	1	KCNQ3	8	133142219	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	61013240	133142219	13221803	82	22693										
KANK1	23189	genome.wustl.edu	37	chr9	745203	745203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ggcttggaaggaagacgtctCctggccccacccaccgaggt	13	14	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:745203C>G	ENST00000382303.1	+	16	4679	c.4027C>G	c.(4027-4029)Cct>Gct	p.P1343A	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.P1185A|KANK1_ENST00000382297.2_Missense_Mutation_p.P1343A	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1343					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAAGACGTCTCCTGGCCCCAC	0.478																																																	0													203	217	212					9																	745203		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.4027C>G	9.37:g.745203C>G	ENSP00000371740:p.Pro1343Ala		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P1343A	ENST00000382303.1	37	c.4027	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911039	0.92178	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289	T;T;T	0.39406	1.08;1.08;1.12	5.9	5.9	0.94986	.	0.000000	0.56097	D	0.000031	T	0.63510	0.2517	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.62604	-0.6819	10	0.72032	D	0.01	-22.856	20.2799	0.98512	0.0:1.0:0.0:0.0	.	389;1343	F5H7I5;Q14678	.;KANK1_HUMAN	A	1343;389;1343;1185;321	ENSP00000371740:P1343A;ENSP00000371734:P1343A;ENSP00000371730:P1185A	ENSP00000371726:P321A	P	+	1	0	KANK1	735203	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	7.154000	0.77437	2.800000	0.96347	0.643000	0.83706	CCT	KANK1	-	NULL		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	C	NM_015158		745203	1	no_errors	ENST00000382297	ensembl	human	known	70_37	missense	SNP	1.000	G	G	745203	C	G	745203	3	3	137	1	0	0	0	0	1	0	0	0	7996	855	30	1	4069	1	KANK1	9	745203	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		745203	140468228	83	22694										
GNAQ	2776	genome.wustl.edu	37	chr9	80409438	80409438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aagcgctactagaaacatgaTagaggtgacattttcaaagc	9	7	1	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:80409438T>C	ENST00000286548.4	-	5	898	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	GNAQ_ENST00000397476.3_Missense_Mutation_p.I24V	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	226					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AGAAACATGATAGAGGTGACA	0.373			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	0													139	130	133					9																	80409438		2203	4300	6503	SO:0001583	missense	2776				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.676A>G	9.37:g.80409438T>C	ENSP00000286548:p.Ile226Val		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.I226V	ENST00000286548.4	37	c.676	CCDS6658.1	9	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689323	0.68271	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.90504	-2.68;-2.68	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	L	0.41079	1.255	0.80722	D	1	B	0.20988	0.05	B	0.31686	0.134	D	0.86144	0.1583	10	0.87932	D	0	.	15.6935	0.77473	0.0:0.0:0.0:1.0	.	226	P50148	GNAQ_HUMAN	V	226;24	ENSP00000286548:I226V;ENSP00000443197:I24V	ENSP00000286548:I226V	I	-	1	0	GNAQ	79599258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.098000	0.63641	0.460000	0.39030	ATC	GNAQ	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.373	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1	T	NM_002072		80409438	-1	no_errors	ENST00000286548	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80409438	T	C	80409438	3	2	137	1	0	0	0	0	1	0	0	0	6528	1406	49	5	415	5	GNAQ	9	80409438	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	79664235	80409438	60803993	84	22695										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100071801	100071801	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgaagaaggtggagactcctGaaggggaggtgatgtctccc	16	7	1	5			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:100071801G>A	ENST00000357054.1	+	17	1659	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.E242K|CCDC180_ENST00000411667.2_Missense_Mutation_p.E103K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E103K|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.E103K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	242						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGAGACTCCTGAAGGGGAGGT	0.587																																																	0													90	76	81					9																	100071801		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.724G>A	9.37:g.100071801G>A	ENSP00000349562:p.Glu242Lys		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E103K	ENST00000357054.1	37	c.307		9	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520367	0.27211	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.19394	2.98;2.15;2.99;2.62;2.99	4.71	1.65	0.23941	.	0.386006	0.19087	N	0.123067	T	0.27134	0.0665	M	0.65975	2.015	0.09310	N	1	D;P;D;P	0.54207	0.965;0.884;0.965;0.884	P;P;P;P	0.58077	0.832;0.482;0.832;0.482	T	0.17992	-1.0351	10	0.07482	T	0.82	-4.6043	4.0123	0.09627	0.215:0.1986:0.5864:0.0	.	103;242;103;242	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	242;242;103;103;126;103	ENSP00000349562:E242K;ENSP00000378646:E242K;ENSP00000364348:E103K;ENSP00000414000:E103K;ENSP00000434727:E103K	ENSP00000349562:E242K	E	+	1	0	C9orf174	99111622	0.049000	0.20398	0.401000	0.26359	0.065000	0.16274	0.405000	0.21015	1.128000	0.42052	-0.258000	0.10820	GAA	C9orf174	-	NULL		0.587	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100071801	1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	0.090	A	A	100071801	G	A	100071801	3	1	137	1	0	0	0	0	1	0	0	0	8260	1291	45	1	746	1	KIAA1529	9	100071801	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	19662363	100071801	41141630	85	22696										
TEX10	54881	genome.wustl.edu	37	chr9	103109309	103109309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gctgatgagaaataagttctAcaaaattcttaagcaatatg	7	5	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:103109309A>G	ENST00000374902.4	-	3	736	c.560T>C	c.(559-561)gTa>gCa	p.V187A	TEX10_ENST00000537512.1_Missense_Mutation_p.V122A|TEX10_ENST00000535814.1_Missense_Mutation_p.V190A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	187						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AATAAGTTCTACAAAATTCTT	0.408																																																	0													68	71	70					9																	103109309		2203	4300	6503	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.560T>C	9.37:g.103109309A>G	ENSP00000364037:p.Val187Ala		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V187A	ENST00000374902.4	37	c.560	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128672	0.77549	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.66099	-0.19;-0.19;-0.19	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.065999	0.64402	D	0.000007	T	0.71854	0.3389	L	0.53249	1.67	0.51012	D	0.9999	D;D;D	0.62365	0.991;0.991;0.968	P;P;P	0.60286	0.872;0.872;0.831	T	0.72171	-0.4371	10	0.42905	T	0.14	-8.8888	15.2772	0.73750	1.0:0.0:0.0:0.0	.	122;190;187	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	A	190;187;122	ENSP00000444555:V190A;ENSP00000364037:V187A;ENSP00000438120:V122A	ENSP00000364037:V187A	V	-	2	0	TEX10	102149130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.010000	0.58986	0.482000	0.46254	GTA	TEX10	-	pfam_IPI1-like_dom,superfamily_ARM-type_fold		0.408	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	A	NM_017746		103109309	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103109309	A	G	103109309	3	3	137	1	0	0	0	0	1	0	0	0	15802	391	14	5	2281	5	TEX10	9	103109309	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	3037508	103109309	38104122	86	22697										
WDR31	114987	genome.wustl.edu	37	chr9	116082750	116082750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctttgcaggaaacatatgagCtacctgcagcccccgactgt	9	13	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:116082750C>G	ENST00000374193.4	-	9	913	c.667G>C	c.(667-669)Gct>Cct	p.A223P	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.A222P|WDR31_ENST00000374195.3_Missense_Mutation_p.A98P	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	223										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AACATATGAGCTACCTGCAGC	0.478																																																	0													95	84	88					9																	116082750		2203	4300	6503	SO:0001583	missense	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.667G>C	9.37:g.116082750C>G	ENSP00000363308:p.Ala223Pro		Q5W0T9|Q96EG8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A223P	ENST00000374193.4	37	c.667	CCDS35110.1	9	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528074	0.85706	.	.	ENSG00000148225	ENST00000374193;ENST00000374195;ENST00000341761	T;T;T	0.06528	3.29;3.29;3.29	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056767	0.64402	D	0.000001	T	0.26557	0.0649	M	0.76002	2.32	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.74674	0.963;0.984	T	0.00070	-1.2135	10	0.39692	T	0.17	-15.1113	19.1813	0.93625	0.0:1.0:0.0:0.0	.	223;222	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	P	223;98;222	ENSP00000363308:A223P;ENSP00000363310:A98P;ENSP00000345027:A222P	ENSP00000345027:A222P	A	-	1	0	WDR31	115122571	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.915000	0.56409	2.771000	0.95319	0.563000	0.77884	GCT	WDR31	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.478	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	C	NM_145241		116082750	-1	no_errors	ENST00000374193	ensembl	human	known	70_37	missense	SNP	1.000	G	G	116082750	C	G	116082750	3	3	137	1	0	0	0	0	1	0	0	0	17317	797	28	4	448	4	WDR31	9	116082750	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	12973441	116082750	25130681	87	22698										
C9orf86	55684	genome.wustl.edu	37	chr9	139733894	139733894	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgctgtccttcgtcatggatGaccccgactttgagagcgag	12	11	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:139733894G>T	ENST00000311502.7	+	12	1950	c.1714G>T	c.(1714-1716)Gac>Tac	p.D572Y	RABL6_ENST00000371675.3_Missense_Mutation_p.D457Y|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.D573Y|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	572					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CGTCATGGATGACCCCGACTT	0.642																																																	0													33	39	37					9																	139733894		2121	4239	6360	SO:0001583	missense	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1714G>T	9.37:g.139733894G>T	ENSP00000311134:p.Asp572Tyr		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.D573Y	ENST00000311502.7	37	c.1717	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	20.4	3.992430	0.74703	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;D	0.82167	-0.74;-0.75;-0.76;-1.58	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.92247	0.5805	10	0.87932	D	0	-33.935	15.6762	0.77326	0.0:0.0:1.0:0.0	.	366;573;572	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	Y	573;572;457;366	ENSP00000360727:D573Y;ENSP00000311134:D572Y;ENSP00000360740:D457Y;ENSP00000408442:D366Y	ENSP00000311134:D572Y	D	+	1	0	C9orf86	138853715	1.000000	0.71417	0.985000	0.45067	0.462000	0.32619	6.689000	0.74562	2.037000	0.60232	0.462000	0.41574	GAC	RABL6	-	NULL		0.642	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	G	NM_024718		139733894	1	no_errors	ENST00000371663	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139733894	G	T	139733894	3	4	137	1	0	0	0	0	1	0	0	0	2507	1290	45	3	2007	3	C9orf86	9	139733894	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	23651144	139733894	1479537	88	22699										
CACNA1B	774	genome.wustl.edu	37	chr9	140852116	140852116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgcagaggagggagaggaccGgtttgcagatctctgtgctg	17	8	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr9:140852116G>T	ENST00000371372.1	+	10	1455	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R438L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R438L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R437L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R437L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	437					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGAGGACCGGTTTGCAGAT	0.567																																																	0													82	104	97					9																	140852116		2146	4250	6396	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1310G>T	9.37:g.140852116G>T	ENSP00000360423:p.Arg437Leu		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R438L	ENST00000371372.1	37	c.1313	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	g	13.09	2.133054	0.37630	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96265	-3.95;-3.96;-3.95;-3.93;-3.93	4.93	3.08	0.35506	.	1.149610	0.06455	N	0.728365	D	0.90390	0.6992	L	0.27053	0.805	0.80722	D	1	P	0.34724	0.465	B	0.26416	0.069	D	0.84729	0.0744	10	0.28530	T	0.3	.	3.3286	0.07076	0.3073:0.2077:0.485:0.0	.	437	B1AQK6	.	L	437;437;437;438;438	ENSP00000360423:R437L;ENSP00000277551:R437L;ENSP00000360414:R437L;ENSP00000360408:R438L;ENSP00000360406:R438L	ENSP00000277551:R437L	R	+	2	0	CACNA1B	139971937	0.998000	0.40836	0.832000	0.32986	0.944000	0.59088	3.308000	0.51896	1.101000	0.41535	0.299000	0.19835	CGG	CACNA1B	-	NULL		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140852116	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	0.580	T	T	140852116	G	T	140852116	3	4	137	1	0	0	0	0	1	0	0	0	2544	1116	39	2	1348	2	CACNA1B	9	140852116	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1118222	140852116	361315	89	22700										
OGDHL	55753	genome.wustl.edu	37	chr10	50944452	50944452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cctccaggtcctggctgctcCgctccttcaccaggtcatag	9	17	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr10:50944452C>T	ENST00000374103.4	-	21	2790	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.R845Q|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R693Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	902					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTGGCTGCTCCGCTCCTTCAC	0.617																																																	0													121	111	115					10																	50944452		2203	4300	6503	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2705G>A	10.37:g.50944452C>T	ENSP00000363216:p.Arg902Gln		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R902Q	ENST00000374103.4	37	c.2705	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.659523	0.96734	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.12147	2.71;2.71;2.71	5.19	5.19	0.71726	.	0.053342	0.64402	D	0.000001	T	0.45696	0.1355	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.995	T	0.54227	-0.8325	10	0.87932	D	0	.	18.7031	0.91627	0.0:1.0:0.0:0.0	.	845;693;902	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	902;845;693	ENSP00000363216:R902Q;ENSP00000401356:R845Q;ENSP00000390240:R693Q	ENSP00000363216:R902Q	R	-	2	0	OGDHL	50614458	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.818000	0.86416	2.427000	0.82271	0.484000	0.47621	CGG	OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	C	NM_018245		50944452	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50944452	C	T	50944452	3	4	137	1	0	0	0	0	1	0	0	0	10864	652	23	2	339	2	OGDHL	10	50944452	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		50944452	84590295	90	22701										
C10orf28	27291	genome.wustl.edu	37	chr10	99995795	99995795	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	attcagagttcctccagccaGcaaaggagcgtcctgagact	10	12	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr10:99995795G>C	ENST00000298999.3	+	9	2446	c.2143G>C	c.(2143-2145)Gca>Cca	p.A715P	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.A715P|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.A131P|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.A121P	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	729							nucleotide binding (GO:0000166)										CCTCCAGCCAGCAAAGGAGCG	0.478																																																	0													72	70	71					10																	99995795		2203	4300	6503	SO:0001583	missense	27291			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2143G>C	10.37:g.99995795G>C	ENSP00000298999:p.Ala715Pro		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.A715P	ENST00000298999.3	37	c.2143	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993543	0.54041	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.78	5.78	0.91487	.	0.176894	0.48286	D	0.000182	T	0.50360	0.1611	L	0.33339	1.005	0.80722	D	1	D;D;D	0.89917	0.971;1.0;0.999	P;D;D	0.72338	0.673;0.977;0.975	T	0.26780	-1.0093	9	.	.	.	-7.8579	19.1384	0.93438	0.0:0.0:1.0:0.0	.	121;729;715	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	P	715;715;121;131;122	ENSP00000359616:A715P;ENSP00000298999:A715P;ENSP00000359618:A121P;ENSP00000314018:A131P	.	A	+	1	0	C10orf28	99985785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.791000	0.62460	2.890000	0.99128	0.655000	0.94253	GCA	R3HCC1L	-	NULL		0.478	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	G	NM_014472		99995795	1	no_errors	ENST00000298999	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99995795	G	C	99995795	3	2	137	1	0	0	0	0	1	0	0	0	1605	971	34	4	2161	4	C10orf28	10	99995795	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	49051343	99995795	35538952	91	22702										
ACADSB	36	genome.wustl.edu	37	chr10	124800817	124800817	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gagggagattattatgtcctCaatggatcaaagatgtggat	12	4	2	2	rs368834489		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr10:124800817C>T	ENST00000358776.4	+	5	617	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Silent_p.L99L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	201					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	ATTATGTCCTCAATGGATCAA	0.438																																																	0													144	139	141					10																	124800817		2203	4300	6503	SO:0001819	synonymous_variant	36			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.603C>T	10.37:g.124800817C>T			B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.L201	ENST00000358776.4	37	c.603	CCDS7634.1	10																																																																																			ACADSB	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase		0.438	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	HGNC	protein_coding	OTTHUMT00000050843.1	C	NM_001609		124800817	1	no_errors	ENST00000358776	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124800817	C	T	124800817	2	4	137	1	0	0	0	0	0	0	0	1	115	813	29	1		1	ACADSB	10	124800817	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	24805022	124800817	10733930	92	22703										
ADAM12	8038	genome.wustl.edu	37	chr10	127724832	127724832	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gactggggctgagggacattCaggccgttgaggggtctgct	18	8	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr10:127724832C>T	ENST00000368679.4	-	21	2730	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	807					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAGGGACATTCAGGCCGTTGA	0.577																																																	0													107	104	105					10																	127724832		2203	4300	6503	SO:0001819	synonymous_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2421G>A	10.37:g.127724832C>T			O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L807	ENST00000368679.4	37	c.2421	CCDS7653.1	10																																																																																			ADAM12	-	NULL		0.577	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	C			127724832	-1	no_errors	ENST00000368679	ensembl	human	known	70_37	silent	SNP	0.000	T	T	127724832	C	T	127724832	2	4	137	1	0	0	0	0	0	0	0	1	236	813	29	1		1	ADAM12	10	127724832	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	2924015	127724832	7809915	93	22704										
OR52H1	390067	genome.wustl.edu	37	chr11	5566286	5566286	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atgcagaagcttcgaaaggaGatgcccatagcactcttgat	10	9	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:5566286G>A	ENST00000322653.4	-	1	493	c.468C>T	c.(466-468)atC>atT	p.I156I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCGAAAGGAGATGCCCATAG	0.473																																																	0													100	90	93					11																	5566286		2201	4297	6498	SO:0001819	synonymous_variant	390067			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.468C>T	11.37:g.5566286G>A			B9EH26|Q6IF79	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I156	ENST00000322653.4	37	c.468	CCDS31386.1	11																																																																																			OR52H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	G	NM_001005289		5566286	-1	no_errors	ENST00000322653	ensembl	human	known	70_37	silent	SNP	0.005	A	A	5566286	G	A	5566286	2	1	137	1	0	0	0	0	0	0	0	1	11143	932	33	1		1	OR52H1	11	5566286	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		5566286	129440230	94	22705										
OR56A4	120793	genome.wustl.edu	37	chr11	6024247	6024247	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agtttcctgatcaatctggaGacccagtgtaccttaaaacg	8	10	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:6024247G>A	ENST00000330728.4	-	1	177	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAATCTGGAGACCCAGTGTA	0.463																																																	0													120	118	119					11																	6024247		2201	4296	6497	SO:0001819	synonymous_variant	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.132C>T	11.37:g.6024247G>A			B9EH17	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V44	ENST00000330728.4	37	c.132	CCDS31404.1	11																																																																																			OR56A4	-	NULL		0.463	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A4	HGNC	protein_coding	OTTHUMT00000383756.2	G	NM_001005179		6024247	-1	no_errors	ENST00000330728	ensembl	human	known	70_37	silent	SNP	0.000	A	A	6024247	G	A	6024247	2	1	137	1	0	0	0	0	0	0	0	1	11159	929	33	1		1	OR56A4	11	6024247	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	457961	6024247	128982269	95	22706										
OR56B4	196335	genome.wustl.edu	37	chr11	6129931	6129931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caaactcagactgggctttcAgagactgcttggactgggtc	12	10	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:6129931A>G	ENST00000316529.3	+	1	1018	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCTTTCAGAGACTGCTT	0.483																																																	0													88	90	89					11																	6129931		2201	4296	6497	SO:0001583	missense	196335			AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.923A>G	11.37:g.6129931A>G	ENSP00000321196:p.Gln308Arg		Q6IFD7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.Q308R	ENST00000316529.3	37	c.923	CCDS31406.1	11	.	.	.	.	.	.	.	.	.	.	A	10.15	1.272132	0.23221	.	.	ENSG00000180919	ENST00000316529	T	0.34072	1.38	4.01	-0.201	0.13212	.	0.263059	0.19038	U	0.124375	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13442	-1.0509	10	0.62326	D	0.03	.	0.2692	0.00229	0.405:0.1512:0.2128:0.231	.	308	Q8NH76	O56B4_HUMAN	R	308	ENSP00000321196:Q308R	ENSP00000321196:Q308R	Q	+	2	0	OR56B4	6086507	0.000000	0.05858	0.749000	0.31150	0.477000	0.33069	0.860000	0.27871	0.191000	0.20236	0.449000	0.29647	CAG	OR56B4	-	NULL		0.483	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	HGNC	protein_coding	OTTHUMT00000384668.1	A	NM_001005181		6129931	1	no_errors	ENST00000316529	ensembl	human	known	70_37	missense	SNP	0.014	G	G	6129931	A	G	6129931	3	3	137	1	0	0	0	0	1	0	0	0	11162	188	7	5	925	5	OR56B4	11	6129931	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	105684	6129931	128876585	96	22707										
RPS13	6207	genome.wustl.edu	37	chr11	17098993	17098993	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tacagtggggacgctgcgtcGatagggtaaagccgactggg	17	8	0	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:17098993G>C	ENST00000525634.1	-	2	200	c.55C>G	c.(55-57)Cga>Gga	p.R19G	PIK3C2A_ENST00000531428.1_5'Flank|SNORD14A_ENST00000606526.1_RNA|RPS13_ENST00000526895.1_5'UTR|RPS13_ENST00000228140.2_Missense_Mutation_p.R19G|SNORD14B_ENST00000364533.1_RNA			P62277	RS13_HUMAN	ribosomal protein S13	19					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACGCTGCGTCGATAGGGTAAA	0.632																																																	0													47	52	50					11																	17098993		2200	4294	6494	SO:0001583	missense	6207			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"S ribosomal proteins"	10386	protein-coding gene	gene with protein product	"40S ribosomal protein S13"	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.55C>G	11.37:g.17098993G>C	ENSP00000435777:p.Arg19Gly		B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.R19G	ENST00000525634.1	37	c.55	CCDS7823.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447511	0.84101	.	.	ENSG00000110700	ENST00000228140;ENST00000525634;ENST00000533969	T	0.26660	1.72	6.07	6.07	0.98685	Ribosomal protein S13/S15, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.89534	3.04	0.80722	D	1	B	0.15719	0.014	B	0.32211	0.142	T	0.45381	-0.9265	10	0.72032	D	0.01	-36.9433	14.175	0.65534	0.0:0.0:0.8507:0.1493	.	19	P62277	RS13_HUMAN	G	19	ENSP00000432096:R19G	ENSP00000228140:R19G	R	-	1	2	RPS13	17055569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.097000	0.41748	2.884000	0.98904	0.655000	0.94253	CGA	RPS13	-	pfam_Ribosomal_S13/S15_N		0.632	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS13	HGNC	protein_coding	OTTHUMT00000387320.2	G	NM_001017		17098993	-1	no_errors	ENST00000525634	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17098993	G	C	17098993	3	2	137	1	0	0	0	0	1	0	0	0	13653	1066	37	1	420	1	RPS13	11	17098993	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	10969062	17098993	117907523	97	22708										
ZDHHC13	54503	genome.wustl.edu	37	chr11	19197384	19197384	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ggcagtcttggattcatgcaGaacctggcagatttctttca	10	9	4	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:19197384G>A	ENST00000446113.2	+	17	1867	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	ZDHHC13_ENST00000399351.3_Silent_p.Q452Q	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	582					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GATTCATGCAGAACCTGGCAG	0.423																																																	0													94	88	90					11																	19197384		1856	4102	5958	SO:0001819	synonymous_variant	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1746G>A	11.37:g.19197384G>A			Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.Q582	ENST00000446113.2	37	c.1746	CCDS44550.1	11																																																																																			ZDHHC13	-	NULL		0.423	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	G	NM_019028		19197384	1	no_errors	ENST00000446113	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19197384	G	A	19197384	2	1	137	1	0	0	0	0	0	0	0	1	17633	933	33	1		1	ZDHHC13	11	19197384	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	2098391	19197384	115809132	98	22709										
C11orf41	25758	genome.wustl.edu	37	chr11	33564473	33564473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcatttgtcagcagctccagAgaattccagagggcccgccc	11	14	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:33564473A>G	ENST00000321505.4	+	1	653	c.473A>G	c.(472-474)gAg>gGg	p.E158G	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E158G|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E158G			Q6ZVL6	K154L_HUMAN	KIAA1549-like	158						integral component of membrane (GO:0016021)											GCAGCTCCAGAGAATTCCAGA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	88	89					11																	33564473		1896	4107	6003	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.473A>G	11.37:g.33564473A>G	ENSP00000315295:p.Glu158Gly	841	B0QYU0	Missense_Mutation	SNP	NULL	p.E158G	ENST00000321505.4	37	c.473	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929363	0.73327	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.53	1.72	0.24424	.	.	.	.	.	T	0.19644	0.0472	N	0.19112	0.55	0.22457	N	0.999089	B;B	0.28178	0.014;0.202	B;B	0.28991	0.011;0.097	T	0.21484	-1.0244	8	0.30078	T	0.28	-5.0267	2.7839	0.05368	0.6237:0.1519:0.0789:0.1455	.	158;158	E9PAT2;Q6ZVL6-2	.;.	G	158	.	ENSP00000265654:E158G	E	+	2	0	C11orf41	33521049	0.993000	0.37304	0.754000	0.31244	0.981000	0.71138	1.108000	0.31123	0.382000	0.24878	0.459000	0.35465	GAG	KIAA1549L	-	NULL		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	A	NM_012194		33564473	1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	0.839	G	G	33564473	A	G	33564473	3	3	137	1	0	0	0	0	1	0	0	0	1644	304	11	5	475	5	C11orf41	11	33564473	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	14367089	33564473	101442043	99	22710										
BBS1	582	genome.wustl.edu	37	chr11	66291252	66291252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcctgaccatgaacctcctgGagcagcattcccggggcctg	11	15	0	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:66291252G>A	ENST00000318312.7	+	11	1060	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	BBS1_ENST00000455748.2_Missense_Mutation_p.E240K|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.E374K|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	337					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GAACCTCCTGGAGCAGCATTC	0.622									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													53	46	48					11																	66291252		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1009G>A	11.37:g.66291252G>A	ENSP00000317469:p.Glu337Lys		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E374K	ENST00000318312.7	37	c.1120	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737276	0.89482	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.56611	0.45;0.45;0.45	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.55673	0.1935	L	0.59436	1.845	0.80722	D	1	B;P;P;P;P	0.51351	0.002;0.944;0.839;0.804;0.804	B;P;B;B;B	0.47402	0.004;0.546;0.393;0.21;0.318	T	0.51348	-0.8717	9	0.21014	T	0.42	.	16.6873	0.85312	0.0:0.0:1.0:0.0	.	12;240;225;337;374	B4DH75;E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;BBS1_HUMAN;.	K	374;337;240	ENSP00000398526:E374K;ENSP00000317469:E337K;ENSP00000405764:E240K	ENSP00000317469:E337K	E	+	1	0	BBS1;CTD-3074O7.11	66047828	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.042000	0.93793	2.536000	0.85505	0.561000	0.74099	GAG	BBS1	-	superfamily_Quinonprotein_ADH-like		0.622	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	G			66291252	1	no_errors	ENST00000419755	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66291252	G	A	66291252	3	1	137	1	0	0	0	0	1	0	0	0	1336	1175	41	1	1051	1	BBS1	11	66291252	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	32726779	66291252	68715264	100	22711										
PAAF1	80227	genome.wustl.edu	37	chr11	73627672	73627672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	attggctgggactcaagatgGaaacatttatcagctggatg	12	6	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:73627672G>A	ENST00000310571.3	+	9	955	c.902G>A	c.(901-903)gGa>gAa	p.G301E	PAAF1_ENST00000536003.1_Missense_Mutation_p.G284E|PAAF1_ENST00000544552.1_Missense_Mutation_p.G284E|PAAF1_ENST00000544909.1_Missense_Mutation_p.G302E|PAAF1_ENST00000535604.1_Missense_Mutation_p.G186E|PAAF1_ENST00000541951.1_Missense_Mutation_p.G186E|PAAF1_ENST00000376384.5_Missense_Mutation_p.G284E	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	301					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACTCAAGATGGAAACATTTAT	0.438																																																	0													129	116	121					11																	73627672		2200	4293	6493	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.902G>A	11.37:g.73627672G>A	ENSP00000311665:p.Gly301Glu		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G301E	ENST00000310571.3	37	c.902	CCDS8226.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.57|15.57	2.871310|2.871310	0.51695|0.51695	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000540659|ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	.|T;T;T;T;T;T;T	.|0.23754	.|1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.42|5.42	5.42|5.42	0.78866|0.78866	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.54870|0.54870	0.1885|0.1885	M|M	0.81497|0.81497	2.545|2.545	0.51012|0.51012	D|D	0.999902|0.999902	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.56183|0.56183	-0.8021|-0.8021	5|10	.|0.48119	.|T	.|0.1	-8.5774|-8.5774	17.7649|17.7649	0.88475|0.88475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|284;301	.|Q9BRP4-2;Q9BRP4	.|.;PAAF1_HUMAN	K|E	111|186;301;186;284;284;284;302	.|ENSP00000441333:G186E;ENSP00000311665:G301E;ENSP00000438789:G186E;ENSP00000438124:G284E;ENSP00000441494:G284E;ENSP00000365564:G284E;ENSP00000438071:G302E	.|ENSP00000311665:G301E	E|G	+|+	1|2	0|0	PAAF1|PAAF1	73305320|73305320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.364000|6.364000	0.73086|0.73086	2.536000|2.536000	0.85505|0.85505	0.655000|0.655000	0.94253|0.94253	GAA|GGA	PAAF1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.438	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1	G	NM_025155		73627672	1	no_errors	ENST00000310571	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73627672	G	A	73627672	3	1	137	1	0	0	0	0	1	0	0	0	11386	1174	41	1	936	1	PAAF1	11	73627672	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	7336420	73627672	61378844	101	22712										
CHRDL2	25884	genome.wustl.edu	37	chr11	74413902	74413902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctcgtgttccagggcaaagcGacgcaggttgtctgggcttg	15	10	1	0	rs141944340		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:74413902G>A	ENST00000376332.3	-	9	1553	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.R353C	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	353					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.R353C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGGGCAAAGCGACGCAGGTTG	0.607											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	endometrium(1)						G	CYS/ARG	0,4400		0,0,2200	131	124	126		1057	5.1	1	11	dbSNP_134	126	1,8585	1.2+/-3.3	0,1,4292	no	missense	CHRDL2	NM_015424.3	180	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	353/452	74413902	1,12985	2200	4293	6493	SO:0001583	missense	25884			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1057C>T	11.37:g.74413902G>A	ENSP00000365510:p.Arg353Cys	1152	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.R353C	ENST00000376332.3	37	c.1057		11	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853701	0.71719	0.0	1.16E-4	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.66638	-0.22;-0.22;-0.22	5.09	5.09	0.68999	.	0.425981	0.24991	N	0.033984	T	0.76442	0.3988	L	0.50333	1.59	0.44136	D	0.996923	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.69307	0.963;0.818;0.931	T	0.78349	-0.2238	10	0.87932	D	0	-35.9185	14.339	0.66611	0.0:0.0:1.0:0.0	.	288;353;353	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	C	353;353;239;237;288	ENSP00000263671:R353C;ENSP00000365510:R353C;ENSP00000431380:R288C	ENSP00000263671:R353C	R	-	1	0	CHRDL2	74091550	0.998000	0.40836	0.979000	0.43373	0.663000	0.39108	3.948000	0.56660	2.517000	0.84864	0.561000	0.74099	CGC	CHRDL2	-	NULL		0.607	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	HGNC	protein_coding	OTTHUMT00000385391.1	G			74413902	-1	no_errors	ENST00000263671	ensembl	human	known	70_37	missense	SNP	0.978	A	A	74413902	G	A	74413902	3	1	137	1	0	0	0	0	1	0	0	0	3379	1058	37	1	314	1	CHRDL2	11	74413902	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	786230	74413902	60592614	102	22713										
IGSF9B	22997	genome.wustl.edu	37	chr11	133816074	133816074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ggctgtcccgtcactgggtgGatcacgtcgcatcgcaggac	14	13	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr11:133816074G>A	ENST00000321016.8	-	2	374	c.144C>T	c.(142-144)atC>atT	p.I48I	IGSF9B_ENST00000533871.2_Silent_p.I48I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	48	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCACTGGGTGGATCACGTCGC	0.632																																																	0													50	57	54					11																	133816074		2145	4233	6378	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.144C>T	11.37:g.133816074G>A			G5EA26	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.I48	ENST00000321016.8	37	c.144		11																																																																																			IGSF9B	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.632	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133816074	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	silent	SNP	1.000	A	A	133816074	G	A	133816074	2	1	137	1	0	0	0	0	0	0	0	1	7626	1164	41	1		1	IGSF9B	11	133816074	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	59402172	133816074	1190442	103	22714										
HDAC7	51564	genome.wustl.edu	37	chr12	48179194	48179194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cacccggatcacggcctccaGagagcggatggcattgaggt	14	12	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:48179194G>A	ENST00000427332.2	-	24	2806	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	HDAC7_ENST00000552960.1_Silent_p.L906L|HDAC7_ENST00000380610.4_Silent_p.L940L|HDAC7_ENST00000080059.7_Silent_p.L923L|HDAC7_ENST00000354334.3_Silent_p.L886L|AC004466.1_ENST00000599515.1_Missense_Mutation_p.R93K			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	884	Interaction with SIN3A. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACGGCCTCCAGAGAGCGGATG	0.552																																																	0													195	186	189					12																	48179194		2203	4300	6503	SO:0001819	synonymous_variant	0			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2650C>T	12.37:g.48179194G>A			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	NULL	p.R93K	ENST00000427332.2	37	c.278		12																																																																																			AC004466.1	-	NULL		0.552	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	ENSG00000268069	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000328804.2	G			48179194	1	no_errors	ENST00000599515	ensembl	human	known	70_37	missense	SNP	0.961	A	A	48179194	G	A	48179194	2	1	137	1	0	0	0	0	0	0	0	1	7032	933	33	1		1	HDAC7	12	48179194	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		48179194	85672701	104	22715										
KRT2	3849	genome.wustl.edu	37	chr12	53045652	53045652	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgcctccaaaaccacctcctCtgccaccaaatccaccagcg	4	21	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:53045652C>T	ENST00000309680.3	-	1	296	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	92	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		accacctcctctgccaccaaa	0.617																																																	0													53	35	41					12																	53045652		2200	4298	6498	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.275G>A	12.37:g.53045652C>T	ENSP00000310861:p.Arg92Lys		Q4VAQ2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R92K	ENST00000309680.3	37	c.275	CCDS8835.1	12	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265586	0.59431	.	.	ENSG00000172867	ENST00000309680	D	0.86865	-2.18	3.74	3.74	0.42951	.	.	.	.	.	D	0.84848	0.5563	M	0.65498	2.005	0.28857	N	0.895745	B	0.29766	0.256	B	0.21917	0.037	T	0.79981	-0.1574	9	0.44086	T	0.13	.	13.8384	0.63424	0.0:1.0:0.0:0.0	.	92	P35908	K22E_HUMAN	K	92	ENSP00000310861:R92K	ENSP00000310861:R92K	R	-	2	0	KRT2	51331919	0.324000	0.24652	0.999000	0.59377	0.981000	0.71138	2.658000	0.46733	2.390000	0.81377	0.561000	0.74099	AGA	KRT2	-	NULL		0.617	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	C	NM_000423		53045652	-1	no_errors	ENST00000309680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53045652	C	T	53045652	3	4	137	1	0	0	0	0	1	0	0	0	8477	913	32	1	1680	1	KRT2	12	53045652	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	4866458	53045652	80806243	105	22716										
C12orf10	60314	genome.wustl.edu	37	chr12	53694044	53694044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caccgatatgaccatcaccaGaggtaggttctcagatacca	8	12	2	3	rs113495940	byFrequency	TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:53694044G>C	ENST00000267103.5	+	2	379	c.327G>C	c.(325-327)caG>caC	p.Q109H	C12orf10_ENST00000549488.1_5'UTR|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_Missense_Mutation_p.Q85H	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	109					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ACCATCACCAGAGGTAGGTTC	0.542											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	57	62					12																	53694044		2203	4300	6503	SO:0001583	missense	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.327G>C	12.37:g.53694044G>C	ENSP00000267103:p.Gln109His	994		Missense_Mutation	SNP	pfam_Met-dep_prot_hydro	p.Q109H	ENST00000267103.5	37	c.327	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803703	0.70682	.	.	ENSG00000139637	ENST00000267103;ENST00000545214;ENST00000548632	T;T	0.55413	0.52;0.52	4.06	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.99	T	0.80823	-0.1210	10	0.87932	D	0	-20.8503	9.7637	0.40548	0.1042:0.0:0.8958:0.0	.	109;109;109	B4DE37;F5H641;Q9HB07	.;.;MYG1_HUMAN	H	109;109;85	ENSP00000267103:Q109H;ENSP00000450270:Q85H	ENSP00000267103:Q109H	Q	+	3	2	C12orf10	51980311	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.002000	0.49496	1.079000	0.41038	0.561000	0.74099	CAG	C12orf10	-	pfam_Met-dep_prot_hydro		0.542	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	HGNC	protein_coding	OTTHUMT00000406906.1	G	NM_021640		53694044	1	no_errors	ENST00000267103	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	53694044	G	C	53694044	3	2	137	1	0	0	0	0	1	0	0	0	1678	933	33	1	333	1	C12orf10	12	53694044	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	648392	53694044	80157851	106	22717										
TIMELESS	8914	genome.wustl.edu	37	chr12	56826872	56826872	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gaccagcagtaggatccgttCaatcagcaagttgtcttcct	9	11	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:56826872C>G	ENST00000553532.1	-	6	619	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.E157Q|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E157Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGATCCGTTCAATCAGCAAG	0.512																																																	0													224	147	173					12																	56826872		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.469G>C	12.37:g.56826872C>G	ENSP00000450607:p.Glu157Gln			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E157Q	ENST00000553532.1	37	c.469	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.272221	0.95429	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.49720	0.77;0.77;0.77	5.31	5.31	0.75309	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64723	-0.6340	10	0.46703	T	0.11	-20.346	18.1301	0.89598	0.0:1.0:0.0:0.0	.	157;157	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	157	ENSP00000229201:E157Q;ENSP00000450607:E157Q;ENSP00000450848:E157Q	ENSP00000229201:E157Q	E	-	1	0	TIMELESS	55113139	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.861000	0.69553	2.671000	0.90904	0.455000	0.32223	GAA	TIMELESS	-	pfam_Timeless		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56826872	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56826872	C	G	56826872	3	3	137	1	0	0	0	0	1	0	0	0	15934	835	29	1	3253	1	TIMELESS	12	56826872	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	3132828	56826872	77025023	107	22718										
NAB2	4665	genome.wustl.edu	37	chr12	57485047	57485047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	acgtgcagcagctgtgtgagGcgggtgaggaggagtttctg	19	6	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:57485047G>A	ENST00000300131.3	+	2	601	c.223G>A	c.(223-225)Gcg>Acg	p.A75T	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.A75T|NAB2_ENST00000357680.4_Missense_Mutation_p.A75T	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	75	NCD1.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTGTGTGAGGCGGGTGAGGA	0.627																																																	0													87	97	94					12																	57485047		2203	4300	6503	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.223G>A	12.37:g.57485047G>A	ENSP00000300131:p.Ala75Thr		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.A75T	ENST00000300131.3	37	c.223	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026154	0.93518	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	D;D;D	0.82344	-1.6;-1.6;-1.6	4.43	4.43	0.53597	Nab, N-terminal (2);	0.000000	0.64402	D	0.000001	D	0.90414	0.6999	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91728	0.5394	10	0.87932	D	0	-10.4165	14.6094	0.68504	0.0:0.0:1.0:0.0	.	75	Q15742	NAB2_HUMAN	T	75	ENSP00000300131:A75T;ENSP00000341491:A75T;ENSP00000350309:A75T	ENSP00000300131:A75T	A	+	1	0	NAB2	55771314	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.603000	0.98315	2.295000	0.77249	0.561000	0.74099	GCG	NAB2	-	pfam_Nab_N,superfamily_SAM/pointed		0.627	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57485047	1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57485047	G	A	57485047	3	1	137	1	0	0	0	0	1	0	0	0	10155	1203	42	4	229	4	NAB2	12	57485047	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	658175	57485047	76366848	108	22719										
USP44	84101	genome.wustl.edu	37	chr12	95912058	95912058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttgggtataaaacaagatatAagcttgagccttgcatactt	8	6	0	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:95912058A>G	ENST00000258499.3	-	6	2299	c.2011T>C	c.(2011-2013)Tat>Cat	p.Y671H	USP44_ENST00000552440.1_3'UTR|USP44_ENST00000393091.2_Missense_Mutation_p.Y671H|USP44_ENST00000537435.2_Missense_Mutation_p.Y671H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	671	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACAAGATATAAGCTTGAGCC	0.428																																																	0													120	111	114					12																	95912058		2203	4300	6503	SO:0001583	missense	84101			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.2011T>C	12.37:g.95912058A>G	ENSP00000258499:p.Tyr671His		B2RDW3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.Y671H	ENST00000258499.3	37	c.2011	CCDS9053.1	12	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827843	0.90955	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.61392	0.11;0.11;0.11	6.0	6.0	0.97389	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	H	0.98559	4.265	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.91337	0.5094	10	0.87932	D	0	.	16.56	0.84537	1.0:0.0:0.0:0.0	.	671	Q9H0E7	UBP44_HUMAN	H	671	ENSP00000258499:Y671H;ENSP00000376806:Y671H;ENSP00000442629:Y671H	ENSP00000258499:Y671H	Y	-	1	0	USP44	94436189	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.101000	0.94219	2.313000	0.78055	0.454000	0.30748	TAT	USP44	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.428	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP44	HGNC	protein_coding	OTTHUMT00000408312.1	A	NM_032147		95912058	-1	no_errors	ENST00000258499	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95912058	A	G	95912058	3	3	137	1	0	0	0	0	1	0	0	0	17106	362	13	5	131	5	USP44	12	95912058	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	38427011	95912058	37939837	109	22720										
BTBD11	121551	genome.wustl.edu	37	chr12	107914403	107914403	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gccacgcgcgtaggcagcatCgccgaattgagtaagtagat	13	10	0	2	rs373812031		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr12:107914403C>T	ENST00000280758.5	+	2	1803	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	BTBD11_ENST00000490090.2_Silent_p.I425I|BTBD11_ENST00000420571.2_Silent_p.I425I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	425						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TAGGCAGCATCGCCGAATTGA	0.557																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	122	109	113		1275	-2.6	0.7	12		113	0,8600		0,0,4300	no	coding-synonymous	BTBD11	NM_001018072.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		425/1105	107914403	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1275C>T	12.37:g.107914403C>T			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.I425	ENST00000280758.5	37	c.1275	CCDS31893.1	12																																																																																			BTBD11	-	NULL		0.557	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		107914403	1	no_errors	ENST00000280758	ensembl	human	known	70_37	silent	SNP	0.979	T	T	107914403	C	T	107914403	2	4	137	1	0	0	0	0	0	0	0	1	1542	874	31	1		1	BTBD11	12	107914403	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	12002345	107914403	25937492	110	22721										
SACS	26278	genome.wustl.edu	37	chr13	23914001	23914001	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tggtcacttttgagatatatCttctgaataaccatggaaat	7	6	3	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr13:23914001C>T	ENST00000382292.3	-	9	4287	c.4014G>A	c.(4012-4014)aaG>aaA	p.K1338K	SACS_ENST00000382298.3_Silent_p.K1338K|SACS_ENST00000402364.1_Silent_p.K588K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1338					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAGATATATCTTCTGAATAA	0.338																																																	0													96	87	90					13																	23914001		2203	4300	6503	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4014G>A	13.37:g.23914001C>T			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.K1338	ENST00000382292.3	37	c.4014	CCDS9300.2	13																																																																																			SACS	-	NULL		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	C	NM_014363		23914001	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	silent	SNP	0.998	T	T	23914001	C	T	23914001	2	4	137	1	0	0	0	0	0	0	0	1	13834	912	32	1		1	SACS	13	23914001	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		23914001	91255877	111	22722										
FAM48A	55578	genome.wustl.edu	37	chr13	37605926	37605926	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atgctgacctgcttttctttCctttcttttttgtaagaaat	5	8	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr13:37605926C>G	ENST00000350612.6	-	11	1034	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q	SUPT20H_ENST00000475892.1_Missense_Mutation_p.E272Q|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E260Q|SUPT20H_ENST00000360252.4_Missense_Mutation_p.E273Q|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E273Q|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E273Q|AL138706.1_ENST00000408173.1_RNA	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	272					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GCTTTTCTTTCCTTTCTTTTT	0.378																																																	0													62	68	66					13																	37605926		2203	4300	6503	SO:0001583	missense	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.814G>C	13.37:g.37605926C>G	ENSP00000218894:p.Glu272Gln		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.E272Q	ENST00000350612.6	37	c.814	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666424	0.67814	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.49139	0.81;0.79;1.38;0.81;0.81;0.89	5.92	5.92	0.95590	.	0.158661	0.56097	D	0.000035	T	0.54902	0.1887	M	0.66939	2.045	0.80722	D	1	B;P;P;B;B;B	0.42010	0.085;0.701;0.768;0.413;0.346;0.235	B;B;B;B;B;B	0.43386	0.081;0.285;0.418;0.175;0.272;0.14	T	0.50625	-0.8806	10	0.33940	T	0.23	-23.7916	20.3328	0.98725	0.0:1.0:0.0:0.0	.	260;272;272;273;273;272	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	Q	273;272;272;273;272;273;260	ENSP00000353388:E273Q;ENSP00000417510:E272Q;ENSP00000218894:E272Q;ENSP00000348512:E273Q;ENSP00000419754:E273Q;ENSP00000439000:E260Q	ENSP00000218894:E272Q	E	-	1	0	FAM48A	36503926	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	7.426000	0.80270	2.811000	0.96726	0.637000	0.83480	GAA	FAM48A	-	NULL		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	C	NM_017569		37605926	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37605926	C	G	37605926	3	3	137	1	0	0	0	0	1	0	0	0	5590	864	30	1	1589	1	FAM48A	13	37605926	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	13691925	37605926	77563952	112	22723										
MTRF1	9617	genome.wustl.edu	37	chr13	41834684	41834684	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcagtctcctgaatttcttgGtaaatggctgcaagaggtgc	11	8	3	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr13:41834684G>T	ENST00000379480.4	-	2	460	c.360C>A	c.(358-360)taC>taA	p.Y120*	MTRF1_ENST00000379477.1_Nonsense_Mutation_p.Y120*|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Nonsense_Mutation_p.Y133*	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	120					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GAATTTCTTGGTAAATGGCTG	0.403																																																	0													171	166	168					13																	41834684		2203	4300	6503	SO:0001587	stop_gained	9617			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.360C>A	13.37:g.41834684G>T	ENSP00000368793:p.Tyr120*		B4DG01|Q5T6Y5|Q8IUQ6	Nonsense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.Y133*	ENST00000379480.4	37	c.399	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	G	38	6.829508	0.97869	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000239852;ENST00000452359	.	.	.	4.78	2.82	0.32997	.	0.328049	0.32028	N	0.006692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2287	2.1329	0.03754	0.4772:0.0:0.2769:0.2459	.	.	.	.	X	120;120;133;120;120	.	ENSP00000239852:Y120X	Y	-	3	2	MTRF1	40732684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.781000	0.26774	0.505000	0.28104	0.591000	0.81541	TAC	MTRF1	-	NULL		0.403	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	G	NM_004294		41834684	-1	no_errors	ENST00000430347	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	41834684	G	T	41834684	4	4	137	1	0	0	0	0	0	1	0	0	9982	1256	44	4	1013	4	MTRF1	13	41834684	Nonsense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	4228758	41834684	73335194	113	22724										
SEC23A	10484	genome.wustl.edu	37	chr14	39514438	39514438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tagagactgggtcagatcttGacgcataaaatggtgacgat	12	6	2	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr14:39514438G>C	ENST00000307712.6	-	16	2345	c.1828C>G	c.(1828-1830)Caa>Gaa	p.Q610E	SEC23A_ENST00000536508.1_Missense_Mutation_p.Q508E|SEC23A_ENST00000545328.2_Missense_Mutation_p.Q581E|SEC23A_ENST00000537403.1_Missense_Mutation_p.Q408E	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	610					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTCAGATCTTGACGCATAAAA	0.353																																																	0													98	92	94					14																	39514438		2203	4300	6503	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1828C>G	14.37:g.39514438G>C	ENSP00000306881:p.Gln610Glu		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.Q610E	ENST00000307712.6	37	c.1828	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110698	0.20714	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.49	5.49	0.81192	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	N	0.00197	-1.87	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.68961	-0.5271	10	0.02654	T	1	-12.2857	19.7347	0.96198	0.0:0.0:1.0:0.0	.	581;508;610	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	E	408;610;508;581	ENSP00000444193:Q408E;ENSP00000306881:Q610E;ENSP00000437715:Q508E;ENSP00000445393:Q581E	ENSP00000306881:Q610E	Q	-	1	0	SEC23A	38584189	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.792000	0.99085	2.746000	0.94184	0.655000	0.94253	CAA	SEC23A	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom		0.353	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	G			39514438	-1	no_errors	ENST00000307712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39514438	G	C	39514438	3	2	137	1	0	0	0	0	1	0	0	0	14021	1299	45	1	489	1	SEC23A	14	39514438	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		39514438	67835102	114	22725										
C14orf183	196913	genome.wustl.edu	37	chr14	50550713	50550713	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cagaacatccaggagtgactCagtctggtgcgagtctggag	14	9	3	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr14:50550713C>T	ENST00000305273.1	-	5	630	c.631G>A	c.(631-633)Gag>Aag	p.E211K	Y_RNA_ENST00000515983.1_RNA|RP11-58E21.5_ENST00000603228.1_lincRNA|RP11-58E21.7_ENST00000556019.2_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	211										endometrium(2)|large_intestine(2)|lung(3)	7						AGGAGTGACTCAGTCTGGTGC	0.642																																																	0													6	7	7					14																	50550713		1828	3995	5823	SO:0001583	missense	196913			AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.631G>A	14.37:g.50550713C>T	ENSP00000303234:p.Glu211Lys			Missense_Mutation	SNP	NULL	p.E211K	ENST00000305273.1	37	c.631	CCDS45101.1	14	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307064	0.23821	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.61	-7.22	0.01485	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.26538	-1.0100	8	0.87932	D	0	.	2.56	0.04770	0.2295:0.1294:0.1049:0.5363	.	211	Q8WXQ3	CN183_HUMAN	K	211	.	ENSP00000303234:E211K	E	-	1	0	C14orf183	49620463	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.419000	0.02460	-2.499000	0.00511	0.455000	0.32223	GAG	C14orf183	-	NULL		0.642	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C14orf183	HGNC	protein_coding	OTTHUMT00000410705.1	C	NM_001014830		50550713	-1	no_errors	ENST00000305273	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	50550713	C	T	50550713	3	4	137	1	0	0	0	0	1	0	0	0	1770	835	29	1	346	1	C14orf183	14	50550713	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	11036275	50550713	56798827	115	22726										
NID2	22795	genome.wustl.edu	37	chr14	52509538	52509538	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcccatttccataaaacttgGattggcagtggcagcagaag	10	9	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr14:52509538G>C	ENST00000216286.5	-	6	1540	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	NID2_ENST00000541773.1_Missense_Mutation_p.S461C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	514	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATAAAACTTGGATTGGCAGTG	0.512																																																	0													127	108	115					14																	52509538		2203	4300	6503	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1541C>G	14.37:g.52509538G>C	ENSP00000216286:p.Ser514Cys		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.S514C	ENST00000216286.5	37	c.1541	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410087	0.83340	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.88277	-2.36;-1.76	5.76	5.76	0.90799	Epidermal growth factor-like (1);	0.347261	0.34932	N	0.003571	D	0.93265	0.7854	M	0.76574	2.34	0.33140	D	0.544301	D;D;B	0.76494	0.99;0.999;0.249	P;P;B	0.62740	0.789;0.906;0.103	D	0.95113	0.8240	10	0.66056	D	0.02	.	14.7489	0.69511	0.0:0.0:0.8553:0.1447	.	461;516;514	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	C	514;461;516	ENSP00000216286:S514C;ENSP00000443730:S461C	ENSP00000216286:S514C	S	-	2	0	NID2	51579288	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	5.191000	0.65110	2.880000	0.98712	0.650000	0.86243	TCC	NID2	-	smart_EG-like_dom		0.512	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	G			52509538	-1	no_errors	ENST00000216286	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52509538	G	C	52509538	3	2	137	1	0	0	0	0	1	0	0	0	10439	1174	41	1	2654	1	NID2	14	52509538	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1958825	52509538	54840002	116	22727										
JKAMP	112849	genome.wustl.edu	37	chr14	59953442	59953442	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttaaaaagctgtcgatattCaaccagcatgccttggactt	7	9	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr14:59953442C>G	ENST00000247194.4	-	0	0				JKAMP_ENST00000425728.2_Intron|JKAMP_ENST00000554271.1_Missense_Mutation_p.Q20E|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000356057.5_Intron|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.Q6E|JKAMP_ENST00000556985.1_Missense_Mutation_p.Q6E	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)						metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TGTCGATATTCAACCAGCATG	0.318																																																	0													89	83	85					14																	59953442		1792	4066	5858	SO:0001631	upstream_gene_variant	51528			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941		14.37:g.59953442C>G	Exception_encountered		Q96LJ5	Missense_Mutation	SNP	pfam_DUF766	p.Q6E	ENST00000247194.4	37	c.16	CCDS9739.1	14	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014754	0.35511	.	.	ENSG00000050130	ENST00000261247;ENST00000556985;ENST00000554271	.	.	.	5.1	5.1	0.69264	.	0.752607	0.13514	N	0.382248	T	0.45776	0.1359	N	0.17474	0.49	0.80722	D	1	B;B	0.23806	0.091;0.051	B;B	0.17098	0.017;0.017	T	0.32268	-0.9913	9	0.38643	T	0.18	.	18.4684	0.90763	0.0:1.0:0.0:0.0	.	20;6	G3V2M4;Q9P055-4	.;.	E	6;6;20	.	ENSP00000261247:Q6E	Q	+	1	0	JKAMP	59023195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.446000	0.44908	2.541000	0.85698	0.655000	0.94253	CAA	JKAMP	-	NULL		0.318	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000072254.5	C	NM_144581		59953442	1	no_errors	ENST00000555491	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59953442	C	G	59953442	1	3	137	0	1	0	0	0	0	0	0	0	7969	827	29	1		1	JKAMP	14	59953442	5'Flank	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	7443904	59953442	47396098	117	22728										
HEATR4	399671	genome.wustl.edu	37	chr14	73945456	73945456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tctcgggggaggtgcgtagaTctttgacaagtgatgaacga	15	6	2	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr14:73945456T>C	ENST00000553558.1	-	18	3257	c.2936A>G	c.(2935-2937)gAt>gGt	p.D979G	RP1-240K6.3_ENST00000515412.2_RNA|HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.D932G|HEATR4_ENST00000334988.2_Missense_Mutation_p.D979G	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	979										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTGCGTAGATCTTTGACAAG	0.483																																																	0													154	136	142					14																	73945456		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2936A>G	14.37:g.73945456T>C	ENSP00000450444:p.Asp979Gly		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D979G	ENST00000553558.1	37	c.2936	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	T	14.72	2.621090	0.46736	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.28255	1.62	4.37	4.37	0.52481	.	0.664722	0.14036	N	0.345767	T	0.21347	0.0514	L	0.27053	0.805	0.26108	N	0.980723	P	0.42908	0.793	B	0.37601	0.254	T	0.09751	-1.0660	10	0.62326	D	0.03	-7.0542	10.299	0.43642	0.0:0.0:0.0:1.0	.	979	Q86WZ0	HEAT4_HUMAN	G	979;932	ENSP00000450444:D979G	ENSP00000335447:D932G	D	-	2	0	HEATR4	73015209	0.988000	0.35896	0.993000	0.49108	0.327000	0.28475	1.711000	0.37930	2.200000	0.70718	0.369000	0.22263	GAT	HEATR4	-	NULL		0.483	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	T	NM_203309		73945456	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.997	C	C	73945456	T	C	73945456	3	2	137	1	0	0	0	0	1	0	0	0	7050	1435	50	5	148	5	HEATR4	14	73945456	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	13992014	73945456	33404084	118	22729										
BRF1	2972	genome.wustl.edu	37	chr14	105685528	105685528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcggcgttctccctcatccaCagctcggccttcacgcgggc	10	18	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr14:105685528C>T	ENST00000546474.1	-	13	16378	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000327359.3_Silent_p.L358L|BRF1_ENST00000547530.1_De_novo_Start_OutOfFrame|BRF1_ENST00000392557.4_Silent_p.L269L|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000446501.2_Silent_p.L235L|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Silent_p.L446L|BRF1_ENST00000440513.3_Silent_p.L380L	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	473					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCCTCATCCACAGCTCGGCCT	0.647																																																	0													121	108	112					14																	105685528		2203	4300	6503	SO:0001819	synonymous_variant	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1419G>A	14.37:g.105685528C>T			B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.L473	ENST00000546474.1	37	c.1419	CCDS10001.1	14																																																																																			BRF1	-	pfam_BRF1_TBP-bd		0.647	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	C	NM_001519		105685528	-1	no_errors	ENST00000546474	ensembl	human	known	70_37	silent	SNP	1.000	T	T	105685528	C	T	105685528	2	4	137	1	0	0	0	0	0	0	0	1	1513	465	17	4		4	BRF1	14	105685528	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	31740072	105685528	1664012	119	22730										
SPRED1	161742	genome.wustl.edu	37	chr15	38616984	38616984	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gatgccccgaatcaaaaaatGaagctgaaggggcagatgac	12	8	1	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr15:38616984G>A	ENST00000299084.4	+	4	1257	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	133					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCAAAAAATGAAGCTGAAGG	0.313									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0													28	30	29					15																	38616984		2199	4294	6493	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.397G>A	15.37:g.38616984G>A	ENSP00000299084:p.Glu133Lys		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.E133K	ENST00000299084.4	37	c.397	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215867	0.58452	.	.	ENSG00000166068	ENST00000299084	T	0.73258	-0.73	4.05	4.05	0.47172	.	0.563444	0.19672	N	0.108736	T	0.63861	0.2547	L	0.54323	1.7	0.29531	N	0.852752	B	0.28713	0.22	B	0.21708	0.036	T	0.61178	-0.7115	10	0.33141	T	0.24	-10.6723	14.0507	0.64734	0.0:0.0:1.0:0.0	.	133	Q7Z699	SPRE1_HUMAN	K	133	ENSP00000299084:E133K	ENSP00000299084:E133K	E	+	1	0	SPRED1	36404276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.628000	0.61282	2.549000	0.85964	0.655000	0.94253	GAA	SPRED1	-	NULL		0.313	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	G			38616984	1	no_errors	ENST00000299084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38616984	G	A	38616984	3	1	137	1	0	0	0	0	1	0	0	0	15122	1291	45	1	411	1	SPRED1	15	38616984	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		38616984	63914408	120	22731										
PLCB2	5330	genome.wustl.edu	37	chr15	40589076	40589076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gaggatcttgcccctgagatCctcagggctgggcaggggga	17	10	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr15:40589076C>T	ENST00000260402.3	-	14	1606	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	PLCB2_ENST00000456256.2_Missense_Mutation_p.D453N|PLCB2_ENST00000557821.1_Missense_Mutation_p.D453N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	453	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCCCTGAGATCCTCAGGGCTG	0.557																																																	0													81	83	82					15																	40589076		1974	4161	6135	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1357G>A	15.37:g.40589076C>T	ENSP00000260402:p.Asp453Asn		A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D453N	ENST00000260402.3	37	c.1357	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055636	0.75960	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.64438	-0.1;-0.1	4.55	4.55	0.56014	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.054444	0.64402	D	0.000001	T	0.62024	0.2394	L	0.46614	1.455	0.80722	D	1	P;B;B	0.39920	0.695;0.101;0.024	B;B;B	0.43225	0.412;0.034;0.034	T	0.65759	-0.6090	10	0.51188	T	0.08	.	17.4629	0.87624	0.0:1.0:0.0:0.0	.	453;453;453	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	N	453	ENSP00000260402:D453N;ENSP00000411991:D453N	ENSP00000260402:D453N	D	-	1	0	PLCB2	38376368	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	7.627000	0.83176	2.517000	0.84864	0.655000	0.94253	GAT	PLCB2	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.557	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	C			40589076	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40589076	C	T	40589076	3	4	137	1	0	0	0	0	1	0	0	0	12052	855	30	1	2276	1	PLCB2	15	40589076	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1972092	40589076	61942316	121	22732										
LCMT2	9836	genome.wustl.edu	37	chr15	43620819	43620819	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcaatctgatactcagagctCaatcctgtagtcaaattgat	6	9	5	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr15:43620819C>G	ENST00000305641.5	-	1	1984	c.1869G>C	c.(1867-1869)ttG>ttC	p.L623F	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_Missense_Mutation_p.L202F|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	623					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ACTCAGAGCTCAATCCTGTAG	0.448																																																	0													113	107	109					15																	43620819		2201	4299	6500	SO:0001583	missense	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1869G>C	15.37:g.43620819C>G	ENSP00000307214:p.Leu623Phe		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	pfam_LCM_MeTrfase	p.L623F	ENST00000305641.5	37	c.1869	CCDS10094.1	15	.	.	.	.	.	.	.	.	.	.	C	6.459	0.452864	0.12283	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.66815	-0.23;-0.23	5.7	2.61	0.31194	Kelch-type beta propeller (1);	0.380247	0.23055	N	0.052445	T	0.46229	0.1382	L	0.27053	0.805	0.30351	N	0.784801	B	0.06786	0.001	B	0.04013	0.001	T	0.35176	-0.9799	10	0.10111	T	0.7	-12.8901	8.4846	0.33063	0.0:0.4907:0.426:0.0833	.	623	O60294	LCMT2_HUMAN	F	623;202	ENSP00000307214:L623F;ENSP00000442022:L202F	ENSP00000307214:L623F	L	-	3	2	LCMT2	41408111	0.906000	0.30813	0.999000	0.59377	0.980000	0.70556	1.154000	0.31688	0.755000	0.32990	-0.136000	0.14681	TTG	LCMT2	-	NULL		0.448	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	C	NM_014793		43620819	-1	no_errors	ENST00000305641	ensembl	human	known	70_37	missense	SNP	0.992	G	G	43620819	C	G	43620819	3	3	137	1	0	0	0	0	1	0	0	0	8699	825	29	1	195	1	LCMT2	15	43620819	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	3031743	43620819	58910573	122	22733										
CLK3	1198	genome.wustl.edu	37	chr15	74912445	74912445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cccatcctttggagaggactActatggaccttcacgttctc	8	13	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr15:74912445A>G	ENST00000395066.3	+	3	1153	c.692A>G	c.(691-693)tAc>tGc	p.Y231C	CLK3_ENST00000348245.3_Missense_Mutation_p.Y83C|CLK3_ENST00000352989.5_Missense_Mutation_p.Y83C|CLK3_ENST00000345005.4_Missense_Mutation_p.Y83C	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	231	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GGAGAGGACTACTATGGACCT	0.637																																					Ovarian(133;694 1754 28950 29027 31859)												0													208	193	198					15																	74912445		2197	4296	6493	SO:0001583	missense	1198			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.692A>G	15.37:g.74912445A>G	ENSP00000378505:p.Tyr231Cys		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	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.Y231C	ENST00000395066.3	37	c.692	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353564	0.41700	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.52526	0.66;0.72	5.95	0.828	0.18841	.	0.531595	0.19941	N	0.102648	T	0.37489	0.1005	L	0.52011	1.625	0.35444	D	0.795117	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.34428	-0.9829	10	0.45353	T	0.12	.	8.1034	0.30870	0.6955:0.0:0.3045:0.0	.	231;231;83	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	C	83;83;231;83;83	ENSP00000344112:Y83C;ENSP00000323106:Y83C	ENSP00000344112:Y83C	Y	+	2	0	CLK3	72699498	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.045000	0.41250	0.243000	0.21327	-0.408000	0.06270	TAC	CLK3	-	NULL		0.637	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	A			74912445	1	no_errors	ENST00000395066	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74912445	A	G	74912445	3	3	137	1	0	0	0	0	1	0	0	0	3543	391	14	5	702	5	CLK3	15	74912445	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	31291626	74912445	27618947	123	22734										
TPSAB1	7177	genome.wustl.edu	37	chr16	1292149	1292149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgggcgtggtcagctggggcGagggctgtgcccagcccaac	18	13	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:1292149G>A	ENST00000338844.3	+	6	769	c.736G>A	c.(736-738)Gag>Aag	p.E246K	TPSAB1_ENST00000461509.2_Missense_Mutation_p.E253K	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CAGCTGGGGCGAGGGCTGTGC	0.657																																																	0													50	48	49					16																	1292149		2197	4277	6474	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.736G>A	16.37:g.1292149G>A	ENSP00000343577:p.Glu246Lys		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E246K	ENST00000338844.3	37	c.736	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	G	2.082	-0.410477	0.04799	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88277	-2.36;-2.36	3.08	0.934	0.19477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.102790	0.02137	N	0.056800	T	0.74137	0.3677	N	0.04768	-0.165	0.09310	N	1	B;B	0.30068	0.225;0.267	B;B	0.19148	0.014;0.024	T	0.66412	-0.5930	10	0.17832	T	0.49	.	5.1024	0.14766	0.121:0.0:0.6742:0.2048	.	237;246	Q15661-2;Q15661	.;TRYB1_HUMAN	K	246;253	ENSP00000343577:E246K;ENSP00000418247:E253K	ENSP00000343577:E246K	E	+	1	0	TPSAB1	1232150	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.832000	0.04400	0.140000	0.18849	0.184000	0.17185	GAG	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.657	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	G	NM_003294		1292149	1	no_errors	ENST00000562675	ensembl	human	known	70_37	missense	SNP	0.008	A	A	1292149	G	A	1292149	3	1	137	1	0	0	0	0	1	0	0	0	16454	1059	37	1	754	1	TPSAB1	16	1292149	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		1292149	89062604	124	22735										
SRRM2	23524	genome.wustl.edu	37	chr16	2815031	2815031	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gccgaggagtcgttctccatCatccccagagctcaacaaca	8	15	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:2815031C>G	ENST00000301740.8	+	11	5051	c.4502C>G	c.(4501-4503)tCa>tGa	p.S1501*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1501	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S1501L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGTTCTCCATCATCCCCAGAG	0.522																																																	1	Substitution - Missense(1)	lung(1)											134	136	135					16																	2815031		2198	4300	6498	SO:0001587	stop_gained	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4502C>G	16.37:g.2815031C>G	ENSP00000301740:p.Ser1501*		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S1501*	ENST00000301740.8	37	c.4502	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	41	8.687813	0.98914	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.9	5.9	0.94986	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.1152	15.7823	0.78269	0.0:1.0:0.0:0.0	.	.	.	.	X	1501;1501;753	.	ENSP00000301740:S1501X	S	+	2	0	SRRM2	2755032	0.998000	0.40836	0.999000	0.59377	0.873000	0.50193	2.947000	0.49058	2.806000	0.96561	0.655000	0.94253	TCA	SRRM2	-	NULL		0.522	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2815031	1	no_errors	ENST00000301740	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	2815031	C	G	2815031	4	3	137	1	0	0	0	0	0	1	0	0	15199	838	29	1	4540	1	SRRM2	16	2815031	Nonsense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1522882	2815031	87539722	125	22736										
CP110	9738	genome.wustl.edu	37	chr16	19548708	19548708	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cacctatggtgtcctgtggaAatgaacaatttttggataac	9	7	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:19548708A>T	ENST00000381396.5	+	4	1964	c.1717A>T	c.(1717-1719)Aat>Tat	p.N573Y	CCP110_ENST00000396208.2_Missense_Mutation_p.N573Y|CCP110_ENST00000396212.2_Missense_Mutation_p.N573Y	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	573					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GTCCTGTGGAAATGAACAATT	0.353																																																	0													103	107	106					16																	19548708		2197	4300	6497	SO:0001583	missense	9738			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1717A>T	16.37:g.19548708A>T	ENSP00000370803:p.Asn573Tyr		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.N573Y	ENST00000381396.5	37	c.1717	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312160	0.40895	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.17370	2.28;2.29;2.28	5.54	3.24	0.37175	.	0.433730	0.25801	N	0.028204	T	0.28067	0.0692	L	0.50333	1.59	0.25420	N	0.988276	D;D	0.61697	0.99;0.99	P;P	0.62740	0.906;0.906	T	0.06899	-1.0801	10	0.87932	D	0	.	6.1418	0.20263	0.7198:0.1374:0.1428:0.0	.	573;573	O43303;O43303-2	CP110_HUMAN;.	Y	573	ENSP00000379515:N573Y;ENSP00000370803:N573Y;ENSP00000379511:N573Y	ENSP00000370803:N573Y	N	+	1	0	CCP110	19456209	0.905000	0.30787	0.071000	0.20095	0.836000	0.47400	2.864000	0.48404	0.358000	0.24211	0.460000	0.39030	AAT	CCP110	-	NULL		0.353	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	A	NM_014711		19548708	1	no_errors	ENST00000381396	ensembl	human	known	70_37	missense	SNP	0.566	T	T	19548708	A	T	19548708	3	4	137	1	0	0	0	0	1	0	0	0	3793	14	1	5	1727	5	CP110	16	19548708	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	16733677	19548708	70806045	126	22737										
SLC5A2	6524	genome.wustl.edu	37	chr16	31496157	31496157	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caggttggggcctctctcttCgccagcaacatcggcagtgg	13	13	2	0	rs149913553		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:31496157C>T	ENST00000330498.3	+	3	235	c.216C>T	c.(214-216)ttC>ttT	p.F72F	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	72					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCTCTCTCTTCGCCAGCAACA	0.657																																																	0			GRCh37	CM034966	SLC5A2	M	rs149913553	C		2,4392	4.2+/-10.8	0,2,2195	47	52	50		216	-0.9	1	16	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	SLC5A2	NM_003041.3		0,2,6495	TT,TC,CC		0.0,0.0455,0.0154		72/673	31496157	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.216C>T	16.37:g.31496157C>T			A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F72	ENST00000330498.3	37	c.216	CCDS10714.1	16																																																																																			SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.657	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31496157	1	no_errors	ENST00000330498	ensembl	human	known	70_37	silent	SNP	0.997	T	T	31496157	C	T	31496157	2	4	137	1	0	0	0	0	0	0	0	1	14695	883	31	1		1	SLC5A2	16	31496157	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	11947449	31496157	58858596	127	22738										
ABCC12	94160	genome.wustl.edu	37	chr16	48162555	48162555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttcctgctggcttcatgctCccatgtcaaggtggcatttg	10	11	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:48162555C>T	ENST00000311303.3	-	9	1675	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	ABCC12_ENST00000416054.1_Missense_Mutation_p.E444K|ABCC12_ENST00000448542.1_Missense_Mutation_p.E444K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	444						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTTCATGCTCCCATGTCAAG	0.443																																																	0													151	134	140					16																	48162555		2201	4300	6501	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1330G>A	16.37:g.48162555C>T	ENSP00000311030:p.Glu444Lys		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E444K	ENST00000311303.3	37	c.1330	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150734	0.57151	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93247	-2.89;-3.1;-3.19	5.45	5.45	0.79879	.	0.297322	0.32081	N	0.006606	D	0.89989	0.6875	L	0.37850	1.14	0.37093	D	0.899544	B;B	0.12630	0.006;0.002	B;B	0.16289	0.015;0.004	D	0.87949	0.2722	10	0.49607	T	0.09	.	16.2065	0.82133	0.0:1.0:0.0:0.0	.	444;444	Q96J65-2;Q96J65	.;MRP9_HUMAN	K	444;444;386;444	ENSP00000311030:E444K;ENSP00000401855:E444K;ENSP00000413046:E444K	ENSP00000311030:E444K	E	-	1	0	ABCC12	46720056	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.956000	0.49129	2.543000	0.85770	0.561000	0.74099	GAG	ABCC12	-	NULL		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	C	NM_033226		48162555	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48162555	C	T	48162555	3	4	137	1	0	0	0	0	1	0	0	0	52	864	30	1	2833	1	ABCC12	16	48162555	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	16666398	48162555	42192198	128	22739										
CTCF	10664	genome.wustl.edu	37	chr16	67660614	67660614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccagtgtgattacgcttgtaGacaggtaggaaccttcattg	11	8	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:67660614G>C	ENST00000264010.4	+	8	1958	c.1514G>C	c.(1513-1515)aGa>aCa	p.R505T	CTCF_ENST00000401394.1_Missense_Mutation_p.R177T	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	505					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TACGCTTGTAGACAGGTAGGA	0.433																																					Colon(175;1200 1966 6945 23069 27405)												0													112	97	102					16																	67660614		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1514G>C	16.37:g.67660614G>C	ENSP00000264010:p.Arg505Thr		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R505T	ENST00000264010.4	37	c.1514	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774120	0.69992	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.59906	0.23;0.23	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.48874	0.1524	N	0.04373	-0.215	0.80722	D	1	P	0.51791	0.948	P	0.51918	0.684	T	0.55198	-0.8178	10	0.34782	T	0.22	-3.7163	19.4985	0.95083	0.0:0.0:1.0:0.0	.	505	P49711	CTCF_HUMAN	T	505;177	ENSP00000264010:R505T;ENSP00000384707:R177T	ENSP00000264010:R505T	R	+	2	0	CTCF	66218115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.009000	0.88606	2.698000	0.92095	0.561000	0.74099	AGA	CTCF	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	G	NM_006565		67660614	1	no_errors	ENST00000264010	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67660614	G	C	67660614	3	2	137	1	0	0	0	0	1	0	0	0	4005	942	33	1	1536	1	CTCF	16	67660614	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	19498059	67660614	22694139	129	22740										
HYDIN	54768	genome.wustl.edu	37	chr16	70969968	70969968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttccttttgtcgctccagctCctgctgtagcttcttttctt	6	13	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:70969968C>T	ENST00000393567.2	-	45	7195	c.7045G>A	c.(7045-7047)Gag>Aag	p.E2349K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2349					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGCTCCAGCTCCTGCTGTAGC	0.517																																																	0													4	4	4					16																	70969968		1546	3387	4933	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7045G>A	16.37:g.70969968C>T	ENSP00000377197:p.Glu2349Lys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.E2348K	ENST00000393567.2	37	c.7042	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.158057	0.94686	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	5.49	5.49	0.81192	.	0.000000	0.32884	U	0.005528	T	0.03520	0.0101	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72144	-0.4379	10	0.14656	T	0.56	.	18.9626	0.92682	0.0:1.0:0.0:0.0	.	2348	F8WD23	.	K	2349;2348	ENSP00000377197:E2349K	ENSP00000313052:E2348K	E	-	1	0	HYDIN	69527469	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.453000	0.66645	2.586000	0.87340	0.609000	0.83330	GAG	HYDIN	-	NULL		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70969968	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70969968	C	T	70969968	3	4	137	1	0	0	0	0	1	0	0	0	7487	864	30	1	8488	1	HYDIN	16	70969968	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	3309354	70969968	19384785	130	22741										
ZFHX3	463	genome.wustl.edu	37	chr16	72822199	72822199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caggtacccgctctgcagggCgccagggatctggggagcat	16	12	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:72822199C>T	ENST00000268489.5	-	10	10648	c.9976G>A	c.(9976-9978)Gcc>Acc	p.A3326T	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2412T|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3326					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A3326T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGCAGGGCGCCAGGGATC	0.597																																																	1	Substitution - Missense(1)	urinary_tract(1)											32	34	33					16																	72822199		2196	4300	6496	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9976G>A	16.37:g.72822199C>T	ENSP00000268489:p.Ala3326Thr		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A3326T	ENST00000268489.5	37	c.9976	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623299	0.46840	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74526	-0.85;-0.81	5.23	4.28	0.50868	.	0.000000	0.49916	D	0.000135	T	0.58061	0.2096	N	0.25647	0.755	0.58432	D	0.999999	B	0.29612	0.251	B	0.16289	0.015	T	0.53570	-0.8420	10	0.17369	T	0.5	.	13.9842	0.64324	0.0:0.9264:0.0:0.0736	.	3326	Q15911	ZFHX3_HUMAN	T	3326;2412	ENSP00000268489:A3326T;ENSP00000438926:A2412T	ENSP00000268489:A3326T	A	-	1	0	ZFHX3	71379700	0.044000	0.20184	1.000000	0.80357	0.998000	0.95712	0.513000	0.22770	1.208000	0.43306	0.557000	0.71058	GCC	ZFHX3	-	NULL		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72822199	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72822199	C	T	72822199	3	4	137	1	0	0	0	0	1	0	0	0	17664	768	27	2	1139	2	ZFHX3	16	72822199	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1852231	72822199	17532554	131	22742										
FBXO31	79791	genome.wustl.edu	37	chr16	87364921	87364921	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gtgagggactgaatgttcttGagcatctcatcgaaggcctg	13	8	2	3	rs147242075		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr16:87364921G>A	ENST00000311635.7	-	9	1605	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	531					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAATGTTCTTGAGCATCTCAT	0.602																																																	0													100	73	82					16																	87364921		2198	4300	6498	SO:0001819	synonymous_variant	79791			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1593C>T	16.37:g.87364921G>A			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L531	ENST00000311635.7	37	c.1593	CCDS32501.1	16																																																																																			FBXO31	-	NULL		0.602	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	G	NM_024735		87364921	-1	no_errors	ENST00000311635	ensembl	human	known	70_37	silent	SNP	1.000	A	A	87364921	G	A	87364921	2	1	137	1	0	0	0	0	0	0	0	1	5759	1277	45	1		1	FBXO31	16	87364921	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	14542722	87364921	2989832	132	22743										
SRR	63826	genome.wustl.edu	37	chr17	2222189	2222189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	acttgcaatacaagcctacgGagcgtcaattgtatactgtg	9	9	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:2222189G>A	ENST00000344595.5	+	4	683	c.365G>A	c.(364-366)gGa>gAa	p.G122E	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	122					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CAAGCCTACGGAGCGTCAATT	0.448																																																	0													163	153	157					17																	2222189		2203	4300	6503	SO:0001583	missense	63826			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.365G>A	17.37:g.2222189G>A	ENSP00000339435:p.Gly122Glu		D3DTI5|Q6IA55	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.G122E	ENST00000344595.5	37	c.365	CCDS11017.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931336	0.73442	.	.	ENSG00000167720	ENST00000344595	D	0.99277	-5.67	5.2	5.2	0.72013	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.96208	3.785	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	D	0.97677	1.0170	10	0.87932	D	0	-38.918	17.7256	0.88364	0.0:0.0:1.0:0.0	.	122	Q9GZT4	SRR_HUMAN	E	122	ENSP00000339435:G122E	ENSP00000339435:G122E	G	+	2	0	SRR	2168939	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.553000	0.60753	2.413000	0.81919	0.650000	0.86243	GGA	SRR	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.448	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRR	HGNC	protein_coding	OTTHUMT00000207129.2	G	NM_021947		2222189	1	no_errors	ENST00000344595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2222189	G	A	2222189	3	1	137	1	0	0	0	0	1	0	0	0	15196	1174	41	1	375	1	SRR	17	2222189	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09		2222189	78973021	133	22744										
GUCY2D	3000	genome.wustl.edu	37	chr17	7909952	7909952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cttcctctccgccggtacccGgatgcacttcccgcgtgggg	12	17	1	0	rs144151076		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:7909952G>A	ENST00000254854.4	+	4	1448	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	433					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GCCGGTACCCGGATGCACTTC	0.652																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	23	22	23		1298	3.1	0	17	dbSNP_134	23	0,8600		0,0,4300	no	missense	GUCY2D	NM_000180.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	433/1104	7909952	1,13005	2203	4300	6503	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1298G>A	17.37:g.7909952G>A	ENSP00000254854:p.Arg433Gln		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.R433Q	ENST00000254854.4	37	c.1298	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571548	0.45798	2.27E-4	0.0	ENSG00000132518	ENST00000254854	T	0.74421	-0.84	5.15	3.1	0.35709	.	0.396313	0.18689	N	0.133940	T	0.53045	0.1772	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.09377	0.004	T	0.37337	-0.9710	10	0.33141	T	0.24	.	12.818	0.57677	0.0:0.6809:0.3191:0.0	.	433	Q02846	GUC2D_HUMAN	Q	433	ENSP00000254854:R433Q	ENSP00000254854:R433Q	R	+	2	0	GUCY2D	7850677	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	1.022000	0.30052	0.536000	0.28733	-0.234000	0.12200	CGG	GUCY2D	-	NULL		0.652	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	G			7909952	1	no_errors	ENST00000254854	ensembl	human	known	70_37	missense	SNP	0.007	A	A	7909952	G	A	7909952	3	1	137	1	0	0	0	0	1	0	0	0	6917	1116	39	2	1308	2	GUCY2D	17	7909952	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	5687763	7909952	73285258	134	22745										
MYH2	4620	genome.wustl.edu	37	chr17	10428320	10428320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	attttcctatcaacctcagaCttgacttggttcaactcaag	5	11	4	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:10428320C>T	ENST00000245503.5	-	34	5109	c.4725G>A	c.(4723-4725)aaG>aaA	p.K1575K	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.K1575K|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1575					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACCTCAGACTTGACTTGGT	0.448																																																	0													113	112	112					17																	10428320		2203	4298	6501	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4725G>A	17.37:g.10428320C>T			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1575	ENST00000245503.5	37	c.4725	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail		0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10428320	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10428320	C	T	10428320	2	4	137	1	0	0	0	0	0	0	0	1	10058	564	20	4		4	MYH2	17	10428320	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	2518368	10428320	70766890	135	22746										
MYH3	4621	genome.wustl.edu	37	chr17	10532970	10532970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cttgttgacttgagattctgCgatatccgcacgttcctcgg	10	11	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:10532970C>T	ENST00000583535.1	-	40	5827	c.5740G>A	c.(5740-5742)Gca>Aca	p.A1914T	MYH3_ENST00000226209.7_Missense_Mutation_p.A1914T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1914					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGAGATTCTGCGATATCCGCA	0.562																																																	0													87	77	80					17																	10532970		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5740G>A	17.37:g.10532970C>T	ENSP00000464317:p.Ala1914Thr		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1914T	ENST00000583535.1	37	c.5740	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365783	0.82463	.	.	ENSG00000109063	ENST00000226209	D	0.81499	-1.5	5.0	5.0	0.66597	Myosin tail (1);	.	.	.	.	D	0.93815	0.8022	H	0.98155	4.16	0.53005	D	0.999961	D	0.89917	1.0	D	0.75020	0.985	D	0.95776	0.8813	9	0.87932	D	0	.	18.8532	0.92241	0.0:1.0:0.0:0.0	.	1914	P11055	MYH3_HUMAN	T	1914	ENSP00000226209:A1914T	ENSP00000226209:A1914T	A	-	1	0	MYH3	10473695	1.000000	0.71417	0.970000	0.41538	0.193000	0.23685	5.924000	0.70054	2.769000	0.95229	0.655000	0.94253	GCA	MYH3	-	pfam_Myosin_tail		0.562	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	C	NM_002470		10532970	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10532970	C	T	10532970	3	4	137	1	0	0	0	0	1	0	0	0	10059	768	27	2	90	2	MYH3	17	10532970	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	104650	10532970	70662240	136	22747										
KIAA0100	9703	genome.wustl.edu	37	chr17	26955504	26955504	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgtctcgattggtagttgtcCaggaaatccgtaaatctact	9	8	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:26955504C>T	ENST00000528896.2	-	24	4447	c.4373G>A	c.(4372-4374)tGg>tAg	p.W1458*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.W1315*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.W1315*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1458						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGTAGTTGTCCAGGAAATCCG	0.453																																																	0													152	137	142					17																	26955504		2203	4300	6503	SO:0001587	stop_gained	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4373G>A	17.37:g.26955504C>T	ENSP00000436773:p.Trp1458*		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.W1458*	ENST00000528896.2	37	c.4373	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.466418	0.99670	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.47	5.47	0.80525	.	0.057962	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	1458;1428;1458;1315	.	ENSP00000005905:W1458X	W	-	2	0	KIAA0100	23979631	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.155000	0.77445	2.575000	0.86900	0.655000	0.94253	TGG	KIAA0100	-	NULL		0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26955504	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	26955504	C	T	26955504	4	4	137	1	0	0	0	0	0	1	0	0	8174	595	21	4	2398	4	KIAA0100	17	26955504	Nonsense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	16422534	26955504	54239706	137	22748										
SEZ6	124925	genome.wustl.edu	37	chr17	27308731	27308731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctggggctgagtgggtaccgCagccatggctggagtggggc	20	9	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:27308731C>T	ENST00000317338.12	-	2	810	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.A128T|SEZ6_ENST00000360295.9_Missense_Mutation_p.A128T|SEZ6_ENST00000335960.6_Missense_Mutation_p.A128T			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	128	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGGTACCGCAGCCATGGCT	0.652																																																	0													27	33	31					17																	27308731		2202	4300	6502	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.382G>A	17.37:g.27308731C>T	ENSP00000312942:p.Ala128Thr		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A128T	ENST00000317338.12	37	c.382	CCDS45639.1	17	.	.	.	.	.	.	.	.	.	.	C	7.985	0.752081	0.15778	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.27104	1.72;1.69;2.65	4.98	2.9	0.33743	.	0.385688	0.21502	N	0.073504	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30361	0.145;0.277;0.181	B;B;B	0.24394	0.053;0.053;0.024	T	0.16867	-1.0388	10	0.72032	D	0.01	.	5.7121	0.17941	0.0:0.6199:0.2643:0.1158	.	128;128;128	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	T	128;128;3;128;128	ENSP00000403784:A128T;ENSP00000353440:A128T;ENSP00000337407:A128T	ENSP00000312942:A3T	A	-	1	0	SEZ6	24332857	0.010000	0.17322	0.031000	0.17742	0.081000	0.17604	0.601000	0.24119	1.099000	0.41499	0.462000	0.41574	GCG	SEZ6	-	NULL		0.652	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	C			27308731	-1	no_errors	ENST00000317338	ensembl	human	known	70_37	missense	SNP	0.010	T	T	27308731	C	T	27308731	3	4	137	1	0	0	0	0	1	0	0	0	14172	710	25	4	2679	4	SEZ6	17	27308731	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	353227	27308731	53886479	138	22749										
ERBB2	2064	genome.wustl.edu	37	chr17	37880261	37880261	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aagccaacaaagaaatcttaGacgtaagcccctccaccctc	5	15	1	2	rs121913468		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:37880261G>C	ENST00000269571.5	+	19	2464	c.2305G>C	c.(2305-2307)Gac>Cac	p.D769H	ERBB2_ENST00000540147.1_Missense_Mutation_p.D739H|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.D754H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493H|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739H|ERBB2_ENST00000406381.2_Missense_Mutation_p.D739H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D769H			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.D769H(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	2	Substitution - Missense(2)	stomach(1)|lung(1)											95	82	86					17																	37880261		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2305G>C	17.37:g.37880261G>C	ENSP00000269571:p.Asp769His		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D769H	ENST00000269571.5	37	c.2305	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.182232	0.94885	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83198	0.5202	N	0.05441	-0.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87787	0.2616	9	0.87932	D	0	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	493;754;769	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	H	739;754;493;769;739	ENSP00000385185:D739H;ENSP00000446466:D754H;ENSP00000404047:D493H;ENSP00000269571:D769H;ENSP00000443562:D739H	ENSP00000269571:D769H	D	+	1	0	ERBB2	35133787	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.869000	0.99810	2.329000	0.79093	0.462000	0.41574	GAC	ERBB2	-	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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37880261	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37880261	G	C	37880261	3	2	137	1	0	0	0	0	1	0	0	0	5218	942	33	1	2379	1	ERBB2	17	37880261	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	10571530	37880261	43314949	139	22750										
GSDMA	284110	genome.wustl.edu	37	chr17	38121988	38121988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gccctggccagacagctaaaCcctcgaggggacctgacacc	11	16	0	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:38121988C>A	ENST00000301659.4	+	2	166	c.48C>A	c.(46-48)aaC>aaA	p.N16K		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	16					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GACAGCTAAACCCTCGAGGGG	0.577																																																	0													54	60	58					17																	38121988		1981	4154	6135	SO:0001583	missense	284110			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.48C>A	17.37:g.38121988C>A	ENSP00000301659:p.Asn16Lys		Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	pfam_Gasdermin	p.N16K	ENST00000301659.4	37	c.48	CCDS45669.1	17	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566092	0.27915	.	.	ENSG00000167914	ENST00000301659	T	0.22743	1.94	5.36	4.18	0.49190	.	0.458932	0.22040	N	0.065467	T	0.40423	0.1116	M	0.70595	2.14	0.30013	N	0.814969	D	0.64830	0.994	D	0.66716	0.946	T	0.26121	-1.0112	10	0.48119	T	0.1	-14.3442	9.8444	0.41017	0.0:0.8905:0.0:0.1095	.	16	Q96QA5	GSDMA_HUMAN	K	16	ENSP00000301659:N16K	ENSP00000301659:N16K	N	+	3	2	GSDMA	35375514	1.000000	0.71417	0.995000	0.50966	0.864000	0.49448	1.724000	0.38064	2.523000	0.85059	0.462000	0.41574	AAC	GSDMA	-	pfam_Gasdermin		0.577	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1	C	NM_178171		38121988	1	no_errors	ENST00000301659	ensembl	human	known	70_37	missense	SNP	0.995	A	A	38121988	C	A	38121988	3	1	137	1	0	0	0	0	1	0	0	0	6836	506	18	4	50	4	GSDMA	17	38121988	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	241727	38121988	43073222	140	22751										
IFI35	3430	genome.wustl.edu	37	chr17	41165087	41165087	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccattttcagtgcccaagatCcccctggtattccgaggaca	8	14	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:41165087C>T	ENST00000415816.2	+	3	367	c.144C>T	c.(142-144)atC>atT	p.I48I	IFI35_ENST00000438323.2_Silent_p.I48I	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	48					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.I48M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TGCCCAAGATCCCCCTGGTAT	0.557																																																	1	Substitution - Missense(1)	large_intestine(1)											143	142	142					17																	41165087		2203	4300	6503	SO:0001819	synonymous_variant	3430			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.144C>T	17.37:g.41165087C>T			C9JGX1|Q92984|Q99537|Q9BV98	Silent	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.I48	ENST00000415816.2	37	c.144		17																																																																																			IFI35	-	pfam_Interferon_induced_35kDa_N		0.557	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	HGNC	protein_coding	OTTHUMT00000395851.1	C	NM_005533		41165087	1	no_errors	ENST00000438323	ensembl	human	known	70_37	silent	SNP	0.001	T	T	41165087	C	T	41165087	2	4	137	1	0	0	0	0	0	0	0	1	7536	845	30	1		1	IFI35	17	41165087	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	3043099	41165087	40030123	141	22752										
IFI35	3430	genome.wustl.edu	37	chr17	41165321	41165321	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caacaaaaggagcacacgatCaacatggaggagtgccggct	12	10	1	0	rs369524898		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:41165321C>G	ENST00000415816.2	+	4	529	c.306C>G	c.(304-306)atC>atG	p.I102M	IFI35_ENST00000438323.2_Missense_Mutation_p.I102M	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	102					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AGCACACGATCAACATGGAGG	0.612																																																	0													55	55	55					17																	41165321		2203	4300	6503	SO:0001583	missense	3430			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.306C>G	17.37:g.41165321C>G	ENSP00000394579:p.Ile102Met		C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.I102M	ENST00000415816.2	37	c.306		17	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373957	0.42105	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.52057	0.68;0.68	5.08	-3.99	0.04069	Nmi/IFP 35 (1);	0.387436	0.28021	N	0.016919	T	0.50017	0.1591	L	0.60455	1.87	0.09310	N	1	D	0.62365	0.991	P	0.60012	0.867	T	0.48917	-0.8992	10	0.87932	D	0	.	5.6387	0.17552	0.1273:0.3766:0.0:0.4961	.	102	P80217	IN35_HUMAN	M	102	ENSP00000394579:I102M;ENSP00000395590:I102M	ENSP00000394579:I102M	I	+	3	3	IFI35	38418847	0.007000	0.16637	0.000000	0.03702	0.623000	0.37688	-0.034000	0.12225	-0.918000	0.03808	-0.367000	0.07326	ATC	IFI35	-	pfam_Nmi/IFP35		0.612	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	HGNC	protein_coding	OTTHUMT00000395851.1	C	NM_005533		41165321	1	no_errors	ENST00000438323	ensembl	human	known	70_37	missense	SNP	0.000	G	G	41165321	C	G	41165321	3	3	137	1	0	0	0	0	1	0	0	0	7536	816	29	1	320	1	IFI35	17	41165321	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	234	41165321	40029889	142	22753										
DHX8	1659	genome.wustl.edu	37	chr17	41582013	41582013	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgcctgttttcctttccagcGgaaggcagacagattgctgc	11	11	0	2	rs145241921	byFrequency	TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:41582013G>A	ENST00000262415.3	+	12	1620	c.1548G>A	c.(1546-1548)gcG>gcA	p.A516A	DHX8_ENST00000540306.1_Splice_Site_p.A516A	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	516					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCTTTCCAGCGGAAGGCAGAC	0.478																																					NSCLC(56;1548 1661 49258 49987)												0								G		0,4406		0,0,2203	205	208	207		1548	3.8	1	17	dbSNP_134	207	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous-near-splice	DHX8	NM_004941.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		516/1221	41582013	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1547-1G>A	17.37:g.41582013G>A				Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A516	ENST00000262415.3	37	c.1548	CCDS11464.1	17																																																																																			DHX8	-	NULL		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	G		Silent	41582013	1	no_errors	ENST00000262415	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41582013	G	A	41582013	5	1	137	1	0	0	0	0	0	0	1	0	4525	1130	39	2	1594	2	DHX8	17	41582013	Splice_Site	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	416692	41582013	39613197	143	22754										
HOXB7	3217	genome.wustl.edu	37	chr17	46687942	46687942	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gccgccaagtccgagtccctCtgctccttggcgcccgccgc	11	20	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:46687942C>T	ENST00000239165.7	-	1	437	c.339G>A	c.(337-339)caG>caA	p.Q113Q	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	113					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGAGTCCCTCTGCTCCTTGG	0.667																																																	0													8	8	8					17																	46687942		2121	4156	6277	SO:0001819	synonymous_variant	3217				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	5118	protein-coding gene	gene with protein product		142962	"homeo box B7"	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.339G>A	17.37:g.46687942C>T			A8K3N8|Q15957|Q53FN3|Q96BQ6	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.Q113	ENST00000239165.7	37	c.339	CCDS11532.1	17																																																																																			HOXB7	-	NULL		0.667	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB7	HGNC	protein_coding	OTTHUMT00000358097.3	C			46687942	-1	no_errors	ENST00000239165	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46687942	C	T	46687942	2	4	137	1	0	0	0	0	0	0	0	1	7326	912	32	1		1	HOXB7	17	46687942	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	5105929	46687942	34507268	144	22755										
TMEM49	81671	genome.wustl.edu	37	chr17	57915729	57915729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aggctcaacggcagaagcttCaccacaaaagcgaaatgggc	11	11	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:57915729C>T	ENST00000262291.4	+	11	1358	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	VMP1_ENST00000536180.1_Missense_Mutation_p.H253Y|VMP1_ENST00000545362.1_Missense_Mutation_p.H294Y|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000537567.1_Missense_Mutation_p.H216Y|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.H158Y	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	350					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GCAGAAGCTTCACCACAAAAG	0.517																																																	0													91	83	86					17																	57915729		2203	4300	6503	SO:0001583	missense	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1048C>T	17.37:g.57915729C>T	ENSP00000262291:p.His350Tyr		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	NULL	p.H350Y	ENST00000262291.4	37	c.1048	CCDS11619.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.476525	0.96291	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.974;0.93;0.974;0.982	D	0.84836	0.0805	9	0.49607	T	0.09	-7.8348	20.4024	0.99000	0.0:1.0:0.0:0.0	.	216;253;294;350	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	Y	350;216;158;253;294	.	ENSP00000262291:H350Y	H	+	1	0	VMP1	55270511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.536000	0.82023	2.827000	0.97445	0.650000	0.86243	CAC	VMP1	-	NULL		0.517	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	C	NM_030938		57915729	1	no_errors	ENST00000262291	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57915729	C	T	57915729	3	4	137	1	0	0	0	0	1	0	0	0	16203	826	29	1	1086	1	TMEM49	17	57915729	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	11227787	57915729	23279481	145	22756										
KCTD2	23510	genome.wustl.edu	37	chr17	73045417	73045417	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcatcactaaggagttggcaGaagaaggtaagcgcactgtt	12	7	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:73045417G>A	ENST00000322444.6	+	2	448	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_3'UTR|ATP5H_ENST00000344546.4_5'Flank|KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	148	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GGAGTTGGCAGAAGAAGGTAA	0.423																																																	0													90	71	77					17																	73045417		2203	4300	6503	SO:0001583	missense	23510			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.442G>A	17.37:g.73045417G>A	ENSP00000312814:p.Glu148Lys			Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E148K	ENST00000322444.6	37	c.442	CCDS32728.1	17	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927842	0.92389	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.47528	0.84	4.86	4.86	0.63082	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.79805	2.47	0.80722	D	1	P	0.44429	0.835	P	0.49477	0.612	T	0.67864	-0.5560	10	0.54805	T	0.06	-8.4429	17.7578	0.88455	0.0:0.0:1.0:0.0	.	148	Q14681	KCTD2_HUMAN	K	148;130	ENSP00000312814:E148K	ENSP00000312814:E148K	E	+	1	0	KCTD2	70557012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.317000	0.96327	2.521000	0.84997	0.655000	0.94253	GAA	KCTD2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.423	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD2	HGNC	protein_coding	OTTHUMT00000445538.1	G			73045417	1	no_errors	ENST00000322444	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73045417	G	A	73045417	3	1	137	1	0	0	0	0	1	0	0	0	8127	943	33	1	448	1	KCTD2	17	73045417	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	15129688	73045417	8149793	146	22757										
GGA3	23163	genome.wustl.edu	37	chr17	73239158	73239158	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctttaccttggacttctcctCatcatcaaaaacagggtttt	5	11	4	0	rs372068946		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr17:73239158C>T	ENST00000245541.6	-	6	730	c.514G>A	c.(514-516)Gag>Aag	p.E172K	GGA3_ENST00000582717.1_Missense_Mutation_p.E100K|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.E139K|GGA3_ENST00000538886.1_Missense_Mutation_p.E50K|GGA3_ENST00000578348.1_Missense_Mutation_p.E50K|GGA3_ENST00000582486.1_Missense_Mutation_p.E100K|GGA3_ENST00000579743.1_5'Flank	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	172	Binds to ARF1 (in long isoform).|GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GACTTCTCCTCATCATCAAAA	0.552																																																	0								C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	153	141	145		298,148,415,514	4.8	1	17		145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GGA3	NM_001172703.1,NM_001172704.1,NM_014001.3,NM_138619.2	56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	100/652,50/593,139/691,172/724	73239158	1,13005	2203	4300	6503	SO:0001583	missense	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.514G>A	17.37:g.73239158C>T	ENSP00000245541:p.Glu172Lys		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.E172K	ENST00000245541.6	37	c.514	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877987	0.51801	0.0	1.16E-4	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.53640	0.61;0.61;0.61	4.85	4.85	0.62838	GAT (1);	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.85130	0.973;0.99;0.997	T	0.77678	-0.2498	10	0.52906	T	0.07	-25.219	18.153	0.89682	0.0:1.0:0.0:0.0	.	50;139;172	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	K	172;139;100;50	ENSP00000245541:E172K;ENSP00000326575:E139K;ENSP00000446421:E50K	ENSP00000245541:E172K	E	-	1	0	GGA3	70750753	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.538000	0.82048	2.505000	0.84491	0.563000	0.77884	GAG	GGA3	-	pfscan_GAT		0.552	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	C	NM_138619		73239158	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73239158	C	T	73239158	3	4	137	1	0	0	0	0	1	0	0	0	6373	835	29	1	1793	1	GGA3	17	73239158	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	193741	73239158	7956052	147	22758										
ENOSF1	55556	genome.wustl.edu	37	chr18	677389	677389	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gatatgtagtcaaatataatCaggtgctgcaccagttcaca	8	8	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr18:677389C>G	ENST00000251101.7	-	14	1192	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	ENOSF1_ENST00000383578.3_Silent_p.L286L|ENOSF1_ENST00000319815.6_Silent_p.L138L|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Silent_p.L375L|ENOSF1_ENST00000580982.1_Silent_p.L292L	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	368					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAAATATAATCAGGTGCTGCA	0.438																																																	0													83	86	85					18																	677389		2203	4300	6503	SO:0001819	synonymous_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.1104G>C	18.37:g.677389C>G			A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C	p.L375	ENST00000251101.7	37	c.1125	CCDS11822.1	18																																																																																			ENOSF1	-	NULL		0.438	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	C	NM_017512		677389	-1	no_errors	ENST00000340116	ensembl	human	known	70_37	silent	SNP	1.000	G	G	677389	C	G	677389	2	3	137	1	0	0	0	0	0	0	0	1	5137	813	29	1		1	ENOSF1	18	677389	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		677389	77399859	148	22759										
SETBP1	26040	genome.wustl.edu	37	chr18	42532180	42532180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agtttctggcagacctggagGagctaatcaccaagttccaa	10	10	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr18:42532180G>A	ENST00000282030.5	+	4	3171	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	959						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGACCTGGAGGAGCTAATCAC	0.478									Schinzel-Giedion syndrome																																								0													76	74	75					18																	42532180		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2875G>A	18.37:g.42532180G>A	ENSP00000282030:p.Glu959Lys		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.E959K	ENST00000282030.5	37	c.2875	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123428	0.77436	.	.	ENSG00000152217	ENST00000282030	D	0.92752	-3.1	6.02	6.02	0.97574	.	0.053120	0.64402	D	0.000001	D	0.93099	0.7803	L	0.32530	0.975	0.52501	D	0.999959	D	0.61697	0.99	P	0.57371	0.819	D	0.93365	0.6730	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	959	Q9Y6X0	SETBP_HUMAN	K	959	ENSP00000282030:E959K	ENSP00000282030:E959K	E	+	1	0	SETBP1	40786178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.811000	0.99226	2.865000	0.98341	0.655000	0.94253	GAG	SETBP1	-	NULL		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	G	NM_001130110		42532180	1	no_errors	ENST00000282030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42532180	G	A	42532180	3	1	137	1	0	0	0	0	1	0	0	0	14159	1175	41	1	3078	1	SETBP1	18	42532180	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	41854791	42532180	35545068	149	22760										
ST8SIA3	51046	genome.wustl.edu	37	chr18	55024435	55024435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcccctacggaggctttccaAagagatgttggaagaaaaac	11	9	0	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr18:55024435A>C	ENST00000324000.3	+	3	2628	c.594A>C	c.(592-594)caA>caC	p.Q198H		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	198					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AGGCTTTCCAAAGAGATGTTG	0.413																																																	0													72	76	75					18																	55024435		2203	4300	6503	SO:0001583	missense	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.594A>C	18.37:g.55024435A>C	ENSP00000320431:p.Gln198His		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q198H	ENST00000324000.3	37	c.594	CCDS32834.1	18	.	.	.	.	.	.	.	.	.	.	A	9.320	1.057704	0.19907	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.30714	1.52	5.96	3.55	0.40652	.	0.218379	0.51477	N	0.000095	T	0.18759	0.0450	N	0.25380	0.74	0.35152	D	0.769852	B	0.02656	0.0	B	0.06405	0.002	T	0.11131	-1.0600	10	0.41790	T	0.15	-9.9829	5.6163	0.17434	0.5709:0.2858:0.1433:0.0	.	198	O43173	SIA8C_HUMAN	H	305;198	ENSP00000320431:Q198H	ENSP00000320431:Q198H	Q	+	3	2	ST8SIA3	53175433	0.308000	0.24509	1.000000	0.80357	0.998000	0.95712	-0.269000	0.08596	0.493000	0.27837	0.533000	0.62120	CAA	ST8SIA3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.413	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	A	NM_015879		55024435	1	no_errors	ENST00000324000	ensembl	human	known	70_37	missense	SNP	0.992	C	C	55024435	A	C	55024435	3	2	137	1	0	0	0	0	1	0	0	0	15263	11	1	5	604	5	ST8SIA3	18	55024435	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	12492255	55024435	23052813	150	22761										
TSHZ1	10194	genome.wustl.edu	37	chr18	72998082	72998082	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aagctctacggctccgtcttCacgggcgccagcaagttccg	11	15	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr18:72998082C>T	ENST00000580243.1	+	2	1068	c.720C>T	c.(718-720)ttC>ttT	p.F240F	TSHZ1_ENST00000322038.5_Silent_p.F195F			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	240					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCTCCGTCTTCACGGGCGCCA	0.617																																																	0													55	46	49					18																	72998082		2203	4300	6503	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.720C>T	18.37:g.72998082C>T			O60534|Q4LE29|Q53EU4	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.F240	ENST00000580243.1	37	c.720		18																																																																																			TSHZ1	-	NULL		0.617	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	C	NM_005786		72998082	1	no_errors	ENST00000580243	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72998082	C	T	72998082	2	4	137	1	0	0	0	0	0	0	0	1	16654	825	29	1		1	TSHZ1	18	72998082	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	17973647	72998082	5079166	151	22762										
SALL3	27164	genome.wustl.edu	37	chr18	76754968	76754968	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttgcttgcaagagcgcgttgGaaatccactaccgcagccat	10	12	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr18:76754968G>C	ENST00000537592.2	+	2	2977	c.2977G>C	c.(2977-2979)Gaa>Caa	p.E993Q	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	993					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GAGCGCGTTGGAAATCCACTA	0.572																																																	0													62	61	61					18																	76754968		2203	4300	6503	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2977G>C	18.37:g.76754968G>C	ENSP00000441823:p.Glu993Gln		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E993Q	ENST00000537592.2	37	c.2977	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180125	0.21787	.	.	ENSG00000256463	ENST00000537592	T	0.04317	3.65	5.28	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.408437	0.18918	N	0.127576	T	0.03011	0.0089	N	0.05012	-0.13	0.80722	D	1	B	0.22003	0.063	B	0.20767	0.031	T	0.48091	-0.9065	10	0.14656	T	0.56	-2.9311	15.6967	0.77506	0.0:0.2831:0.7169:0.0	.	993	Q9BXA9	SALL3_HUMAN	Q	993	ENSP00000441823:E993Q	ENSP00000299466:E993Q	E	+	1	0	SALL3	74855956	1.000000	0.71417	0.765000	0.31456	0.717000	0.41224	2.687000	0.46976	0.580000	0.29522	0.561000	0.74099	GAA	SALL3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.572	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	G	NM_171999		76754968	1	no_errors	ENST00000537592	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76754968	G	C	76754968	3	2	137	1	0	0	0	0	1	0	0	0	13842	1175	41	1	2983	1	SALL3	18	76754968	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	3756886	76754968	1322280	152	22763										
CELF5	60680	genome.wustl.edu	37	chr19	3282169	3282169	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgtccacctcgggcagctacCtgagtcccggcgtggccttc	12	16	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:3282169C>G	ENST00000292672.2	+	7	833	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	CELF5_ENST00000541430.2_Missense_Mutation_p.L266V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	266					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GGGCAGCTACCTGAGTCCCGG	0.602																																																	0													148	126	133					19																	3282169		2203	4300	6503	SO:0001583	missense	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.796C>G	19.37:g.3282169C>G	ENSP00000292672:p.Leu266Val		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L266V	ENST00000292672.2	37	c.796	CCDS12106.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495793	0.44352	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.30448	2.22;1.63;1.53	4.59	3.54	0.40534	.	0.421858	0.23309	N	0.049598	T	0.38825	0.1055	M	0.72894	2.215	0.43334	D	0.995372	P;P;B	0.48503	0.693;0.911;0.209	B;P;B	0.50617	0.275;0.646;0.056	T	0.13683	-1.0500	10	0.32370	T	0.25	-21.6513	7.5558	0.27822	0.0:0.7404:0.1691:0.0905	.	152;266;266	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	V	266;266;152	ENSP00000292672:L266V;ENSP00000443498:L266V;ENSP00000335182:L152V	ENSP00000292672:L266V	L	+	1	2	CELF5	3233169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.176000	0.42500	1.042000	0.40150	0.555000	0.69702	CTG	CELF5	-	NULL		0.602	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1	C	NM_021938		3282169	1	no_errors	ENST00000292672	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3282169	C	G	3282169	3	3	137	1	0	0	0	0	1	0	0	0	3224	680	24	4	822	4	CELF5	19	3282169	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		3282169	55846814	153	22764										
MUC16	94025	genome.wustl.edu	37	chr19	8976330	8976330	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	acaccatgggtcagctgactCagctcccagtaaagctgctg	10	13	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:8976330C>T	ENST00000397910.4	-	75	42701	c.42498G>A	c.(42496-42498)ctG>ctA	p.L14166L	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Silent_p.L807L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14197	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGCTGACTCAGCTCCCAGT	0.572																																																	0													49	48	48					19																	8976330		2000	4174	6174	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42498G>A	19.37:g.8976330C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L14166	ENST00000397910.4	37	c.42498	CCDS54212.1	19																																																																																			MUC16	-	pfam_SEA		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		8976330	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.310	T	T	8976330	C	T	8976330	2	4	137	1	0	0	0	0	0	0	0	1	9996	813	29	1		1	MUC16	19	8976330	Silent	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	5694161	8976330	50152653	154	22765										
LDLR	3949	genome.wustl.edu	37	chr19	11216264	11216264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	actgcaaggacaaatctgacGaggaaaactgcggtatgggc	13	8	1	1	rs121908029		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:11216264G>A	ENST00000558518.1	+	4	869	c.682G>A	c.(682-684)Gag>Aag	p.E228K	LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.E187K|LDLR_ENST00000557933.1_Missense_Mutation_p.E228K|LDLR_ENST00000558013.1_Missense_Mutation_p.E228K|LDLR_ENST00000455727.2_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	228	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.		E -> CK (in Chieti-3). {ECO:0000269|PubMed:10660340}.|E -> K (in FH; French Canadian-3/Mexico; 2% of French Canadians). {ECO:0000269|PubMed:2318961}.|E -> Q (in Tulsa-2).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CAAATCTGACGAGGAAAACTG	0.637																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)	GRCh37	CM900153|CM920424|CM920425|CX983276	LDLR	M|X	rs121908029						27	32	30					19																	11216264		2198	4297	6495	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.682G>A	19.37:g.11216264G>A	ENSP00000454071:p.Glu228Lys		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E228K	ENST00000558518.1	37	c.682	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656133	0.88056	.	.	ENSG00000130164	ENST00000252444;ENST00000535915	D	0.98849	-5.18	5.6	5.6	0.85130	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000018	D	0.99551	0.9839	H	0.98682	4.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.97898	1.0301	10	0.87932	D	0	.	18.3742	0.90430	0.0:0.0:1.0:0.0	.	107;187;240;228	B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;LDLR_HUMAN	K	228;187	ENSP00000440520:E187K	ENSP00000252444:E228K	E	+	1	0	LDLR	11077264	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.751000	0.98889	2.648000	0.89879	0.591000	0.81541	GAG	LDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.637	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	G			11216264	1	no_errors	ENST00000558518	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11216264	G	A	11216264	3	1	137	1	0	0	0	0	1	0	0	0	8724	1059	37	1	696	1	LDLR	19	11216264	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	2239934	11216264	47912719	155	22766										
BEST2	54831	genome.wustl.edu	37	chr19	12868679	12868679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gctcatgcgcggttgtccccGaaggcgcggccccggagtgc	16	15	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:12868679G>A	ENST00000549706.1	+	10	1642	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	BEST2_ENST00000553030.1_Missense_Mutation_p.E440K|BEST2_ENST00000042931.1_Missense_Mutation_p.E440K			Q8NFU1	BEST2_HUMAN	bestrophin 2	440					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GGTTGTCCCCGAAGGCGCGGC	0.741																																																	0													5	7	6					19																	12868679		1456	3259	4715	SO:0001583	missense	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1318G>A	19.37:g.12868679G>A	ENSP00000448310:p.Glu440Lys		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.E440K	ENST00000549706.1	37	c.1318	CCDS42506.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.798321	0.96960	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.97959	-4.63;-4.63;-4.63	5.14	5.14	0.70334	.	0.685592	0.13213	N	0.405019	D	0.91978	0.7459	N	0.08118	0	0.34974	D	0.753454	B	0.31519	0.327	B	0.22601	0.04	D	0.91300	0.5066	10	0.10377	T	0.69	-17.9894	15.5066	0.75745	0.0:0.0:1.0:0.0	.	440	Q8NFU1	BEST2_HUMAN	K	440	ENSP00000448310:E440K;ENSP00000447203:E440K;ENSP00000042931:E440K	ENSP00000042931:E440K	E	+	1	0	BEST2	12729679	0.990000	0.36364	0.215000	0.23724	0.837000	0.47467	3.985000	0.56930	2.399000	0.81585	0.491000	0.48974	GAA	BEST2	-	NULL		0.741	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1	G	NM_017682		12868679	1	no_errors	ENST00000042931	ensembl	human	known	70_37	missense	SNP	0.890	A	A	12868679	G	A	12868679	3	1	137	1	0	0	0	0	1	0	0	0	1406	1059	37	1	1352	1	BEST2	19	12868679	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1652415	12868679	46260304	156	22767										
OR7A5	26659	genome.wustl.edu	37	chr19	14938895	14938895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tacatgggggtgtggaggtgGgagtctgagattgtggccag	20	4	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:14938895G>A	ENST00000322301.3	-	2	246	c.159C>T	c.(157-159)tcC>tcT	p.S53S	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.S53S			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	53					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGTGGAGGTGGGAGTCTGAGA	0.512																																																	0													102	94	97					19																	14938895		2203	4297	6500	SO:0001819	synonymous_variant	26659			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.159C>T	19.37:g.14938895G>A			B2R682|Q6IFP1|Q96R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S53	ENST00000322301.3	37	c.159	CCDS12318.1	19																																																																																			OR7A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A5	HGNC	protein_coding	OTTHUMT00000466518.1	G	NM_017506		14938895	-1	no_errors	ENST00000322301	ensembl	human	known	70_37	silent	SNP	0.016	A	A	14938895	G	A	14938895	2	1	137	1	0	0	0	0	0	0	0	1	11240	1219	43	4		4	OR7A5	19	14938895	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	2070216	14938895	44190088	157	22768										
ARRDC2	27106	genome.wustl.edu	37	chr19	18121164	18121164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gggccttgccggagcggcctGagggtaagctcccaccctgc	15	15	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:18121164G>C	ENST00000222250.4	+	6	1152	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	ARRDC2_ENST00000379656.3_Missense_Mutation_p.E332Q	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	337					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.E337Q(1)|p.E332Q(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGAGCGGCCTGAGGGTAAGCT	0.647																																																	2	Substitution - Missense(2)	lung(2)											26	29	28					19																	18121164		2203	4297	6500	SO:0001583	missense	27106				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1009G>C	19.37:g.18121164G>C	ENSP00000222250:p.Glu337Gln		B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.E337Q	ENST00000222250.4	37	c.1009	CCDS12370.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554132	0.86231	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.06849	3.25;3.25	4.78	4.78	0.61160	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06250	-1.0837	10	0.72032	D	0.01	-20.3615	17.1659	0.86816	0.0:0.0:1.0:0.0	.	337;332	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	Q	332;337	ENSP00000368977:E332Q;ENSP00000222250:E337Q	ENSP00000222250:E337Q	E	+	1	0	ARRDC2	17982164	1.000000	0.71417	0.982000	0.44146	0.614000	0.37383	9.620000	0.98373	2.397000	0.81536	0.491000	0.48974	GAG	ARRDC2	-	superfamily_Ig_E-set		0.647	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC2	HGNC	protein_coding	OTTHUMT00000466845.1	G	NM_015683		18121164	1	no_errors	ENST00000222250	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18121164	G	C	18121164	3	2	137	1	0	0	0	0	1	0	0	0	984	1291	45	1	1294	1	ARRDC2	19	18121164	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	3182269	18121164	41007819	158	22769										
ARRDC2	27106	genome.wustl.edu	37	chr19	18121476	18121476	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aggaccccgacatgagccttGaaggcccgttcttcgcctac	10	15	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:18121476G>A	ENST00000222250.4	+	7	1251	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ARRDC2_ENST00000379656.3_Missense_Mutation_p.E365K	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	370					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CATGAGCCTTGAAGGCCCGTT	0.632																																																	0													63	61	62					19																	18121476		2203	4300	6503	SO:0001583	missense	27106				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1108G>A	19.37:g.18121476G>A	ENSP00000222250:p.Glu370Lys		B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.E370K	ENST00000222250.4	37	c.1108	CCDS12370.1	19	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593740	0.46214	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.18657	2.2;2.2	4.25	4.25	0.50352	.	0.162693	0.53938	D	0.000059	T	0.36248	0.0960	M	0.61703	1.905	0.53005	D	0.999968	D;D	0.57571	0.966;0.98	P;P	0.54664	0.577;0.758	T	0.14671	-1.0464	10	0.42905	T	0.14	-23.2221	16.0249	0.80536	0.0:0.0:1.0:0.0	.	370;365	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	K	365;370	ENSP00000368977:E365K;ENSP00000222250:E370K	ENSP00000222250:E370K	E	+	1	0	ARRDC2	17982476	1.000000	0.71417	0.819000	0.32651	0.016000	0.09150	5.157000	0.64911	2.110000	0.64415	0.491000	0.48974	GAA	ARRDC2	-	NULL		0.632	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC2	HGNC	protein_coding	OTTHUMT00000466845.1	G	NM_015683		18121476	1	no_errors	ENST00000222250	ensembl	human	known	70_37	missense	SNP	0.995	A	A	18121476	G	A	18121476	3	1	137	1	0	0	0	0	1	0	0	0	984	1291	45	1	1397	1	ARRDC2	19	18121476	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	312	18121476	41007507	159	22770										
JUND	3727	genome.wustl.edu	37	chr19	18391439	18391439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcgctccagcttgcgcttgcGgcacttggaggcggcgatgc	16	13	0	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:18391439G>A	ENST00000252818.3	-	1	993	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	286	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TTGCGCTTGCGGCACTTGGAG	0.667																																																	0													21	21	21					19																	18391439		2190	4278	6468	SO:0001583	missense	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.856C>T	19.37:g.18391439G>A	ENSP00000252818:p.Arg286Cys		Q53EK9	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.R286C	ENST00000252818.3	37	c.856	CCDS32959.1	19	.	.	.	.	.	.	.	.	.	.	.	19.80	3.894250	0.72639	.	.	ENSG00000130522	ENST00000252818	D	0.94280	-3.39	3.16	2.08	0.27032	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.068487	0.56097	U	0.000025	D	0.96969	0.9010	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	D	0.95718	0.8764	10	0.87932	D	0	.	7.8929	0.29688	0.0:0.0:0.5529:0.447	.	286	P17535	JUND_HUMAN	C	286	ENSP00000252818:R286C	ENSP00000252818:R286C	R	-	1	0	JUND	18252439	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.619000	0.61218	0.655000	0.30866	0.450000	0.29827	CGC	JUND	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun		0.667	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	G	NM_005354		18391439	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18391439	G	A	18391439	3	1	137	1	0	0	0	0	1	0	0	0	7991	1116	39	2	191	2	JUND	19	18391439	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	269963	18391439	40737544	160	22771										
ZNF626	199777	genome.wustl.edu	37	chr19	20808330	20808330	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccttacactcatccacacttAtacatcctttttttaactgt	1	13	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:20808330A>T	ENST00000601440.1	-	4	499	c.353T>A	c.(352-354)aTa>aAa	p.I118K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATCCACACTTATACATCCTTT	0.338																																																	0													90	95	93					19																	20808330		2168	4282	6450	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.353T>A	19.37:g.20808330A>T	ENSP00000469958:p.Ile118Lys		Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I118K	ENST00000601440.1	37	c.353	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.561253	0.00136	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	.	.	.	.	.	T	0.03053	0.0090	N	0.00038	-2.515	0.22389	N	0.999142	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	8	0.02654	T	1	.	3.9915	0.09539	0.5932:0.0:0.0:0.4068	.	118	Q68DY1	ZN626_HUMAN	K	118;42;118	.	ENSP00000445201:I118K	I	-	2	0	ZNF626	20600170	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.294000	0.08309	-1.002000	0.03429	-1.123000	0.02005	ATA	ZNF626	-	NULL		0.338	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	A	NM_145297		20808330	-1	no_errors	ENST00000601440	ensembl	human	known	70_37	missense	SNP	0.085	T	T	20808330	A	T	20808330	3	4	137	1	0	0	0	0	1	0	0	0	18080	449	16	5	1237	5	ZNF626	19	20808330	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	2416891	20808330	38320653	161	22772										
ZNF99	7652	genome.wustl.edu	37	chr19	22942361	22942361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	taccctcattgacactttcaCaatcttttcttaatcgtaaa	2	11	4	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:22942361C>A	ENST00000596209.1	-	4	440	c.350G>T	c.(349-351)tGt>tTt	p.C117F	ZNF99_ENST00000397104.3_Missense_Mutation_p.C138F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	117					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.C138F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GACACTTTCACAATCTTTTCT	0.328																																																	1	Substitution - Missense(1)	endometrium(1)											108	102	104					19																	22942361		1854	4103	5957	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.350G>T	19.37:g.22942361C>A	ENSP00000472969:p.Cys117Phe		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C138F	ENST00000596209.1	37	c.413	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	0.014	-1.592955	0.00864	.	.	ENSG00000213973	ENST00000397104	T	0.06768	3.26	0.257	0.257	0.15574	.	.	.	.	.	T	0.13756	0.0333	M	0.68593	2.085	0.19575	N	0.999964	P	0.50443	0.935	P	0.54238	0.746	T	0.20075	-1.0286	9	0.10111	T	0.7	.	6.4228	0.21754	0.0:0.9998:0.0:2.0E-4	.	138	A8MXY4	ZNF99_HUMAN	F	138	ENSP00000380293:C138F	ENSP00000380293:C138F	C	-	2	0	ZNF99	22734201	0.000000	0.05858	0.079000	0.20413	0.072000	0.16883	-1.615000	0.02055	0.384000	0.24942	0.385000	0.25706	TGT	ZNF99	-	NULL		0.328	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22942361	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.505	A	A	22942361	C	A	22942361	3	1	137	1	0	0	0	0	1	0	0	0	18234	478	17	4	2715	4	ZNF99	19	22942361	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	2134031	22942361	36186622	162	22773										
ZNF568	374900	genome.wustl.edu	37	chr19	37413710	37413710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agtgatcagcaatagctgtgTgacaatggagcgtttgagcc	13	7	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:37413710T>G	ENST00000333987.7	+	3	544	c.38T>G	c.(37-39)gTg>gGg	p.V13G	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.V13G|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAGCTGTGTGACAATGGAG	0.512																																																	0													112	110	110					19																	37413710		1987	4161	6148	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.38T>G	19.37:g.37413710T>G	ENSP00000334685:p.Val13Gly		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V13G	ENST00000333987.7	37	c.38	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	T	9.613	1.131726	0.21041	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.08458	5.62;3.36;3.09	3.05	0.813	0.18749	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.31517	N	0.66286	B	0.02656	0.0	B	0.01281	0.0	T	0.26573	-1.0099	9	0.51188	T	0.08	.	3.3376	0.07106	0.2239:0.0:0.2556:0.5205	.	13	Q3ZCX4	ZN568_HUMAN	G	13	ENSP00000407012:V13G;ENSP00000334685:V13G;ENSP00000389794:V13G	ENSP00000334685:V13G	V	+	2	0	ZNF568	42105550	0.001000	0.12720	0.514000	0.27761	0.458000	0.32498	-0.261000	0.08694	0.107000	0.17824	0.454000	0.30748	GTG	ZNF568	-	NULL		0.512	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	T	NM_198539		37413710	1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	0.627	G	G	37413710	T	G	37413710	3	3	137	1	0	0	0	0	1	0	0	0	18029	1696	59	5	40	5	ZNF568	19	37413710	Missense_Mutation	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	14471349	37413710	21715273	163	22774										
RYR1	6261	genome.wustl.edu	37	chr19	39002929	39002929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gatcgtgaaggctggcctccGctccttcttcgagagtgcct	12	13	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:39002929G>A	ENST00000359596.3	+	63	9278	c.9278G>A	c.(9277-9279)cGc>cAc	p.R3093H	RYR1_ENST00000360985.3_Missense_Mutation_p.R3093H|RYR1_ENST00000355481.4_Missense_Mutation_p.R3093H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3093					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGCCTCCGCTCCTTCTTC	0.617																																																	0													78	77	77					19																	39002929		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9278G>A	19.37:g.39002929G>A	ENSP00000352608:p.Arg3093His		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R3093H	ENST00000359596.3	37	c.9278	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151462	0.78001	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96913	-4.17;-4.17;-4.17	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000002	D	0.97670	0.9236	M	0.70595	2.14	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.991	D	0.97536	1.0083	10	0.41790	T	0.15	.	16.9115	0.86141	0.0:0.0:1.0:0.0	.	3093;3093;3093	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3093;3093;3093;13	ENSP00000352608:R3093H;ENSP00000347667:R3093H;ENSP00000354254:R3093H	ENSP00000347667:R3093H	R	+	2	0	RYR1	43694769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.303000	0.77524	0.591000	0.81541	CGC	RYR1	-	NULL		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			39002929	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39002929	G	A	39002929	3	1	137	1	0	0	0	0	1	0	0	0	13798	1087	38	2	9528	2	RYR1	19	39002929	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1589219	39002929	20126054	164	22775										
SERTAD3	29946	genome.wustl.edu	37	chr19	40947907	40947907	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agcagggcttgctggtagctCtgaaggcctgctggactcca	14	11	1	1	rs543523788		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:40947907C>G	ENST00000322354.3	-	2	577	c.81G>C	c.(79-81)caG>caC	p.Q27H	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.Q27H	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	27	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGTAGCTCTGAAGGCCTG	0.587																																																	0													37	32	34					19																	40947907		2203	4300	6503	SO:0001583	missense	29946			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.81G>C	19.37:g.40947907C>G	ENSP00000325414:p.Gln27His		B3KQB3|Q96CQ2	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.Q27H	ENST00000322354.3	37	c.81	CCDS12558.1	19	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413286	0.04799	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	4.21	0.661	0.17874	.	0.324095	0.24085	N	0.041686	T	0.13970	0.0338	N	0.08118	0	0.19575	N	0.999964	B	0.22480	0.07	B	0.21917	0.037	T	0.14504	-1.0470	9	0.22706	T	0.39	-3.2324	3.4975	0.07661	0.0:0.5303:0.2098:0.2599	.	27	Q9UJW9	SRTD3_HUMAN	H	27	.	ENSP00000325414:Q27H	Q	-	3	2	SERTAD3	45639747	0.836000	0.29430	0.581000	0.28614	0.504000	0.33889	0.348000	0.20031	0.430000	0.26230	-0.182000	0.12963	CAG	SERTAD3	-	pfscan_SERTA		0.587	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	C	NM_013368		40947907	-1	no_errors	ENST00000322354	ensembl	human	known	70_37	missense	SNP	0.447	G	G	40947907	C	G	40947907	3	3	137	1	0	0	0	0	1	0	0	0	14152	912	32	1	513	1	SERTAD3	19	40947907	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1944978	40947907	18181076	165	22776										
CCDC114	93233	genome.wustl.edu	37	chr19	48801323	48801323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ccaggctctggcccagcactAggagggcagcgtcggccagg	16	14	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:48801323A>G	ENST00000315396.7	-	12	2007	c.1325T>C	c.(1324-1326)cTa>cCa	p.L442P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	442					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCCAGCACTAGGAGGGCAGC	0.692																																																	0													42	43	43					19																	48801323		2203	4300	6503	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1325T>C	19.37:g.48801323A>G	ENSP00000318429:p.Leu442Pro		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.L442P	ENST00000315396.7	37	c.1325	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376966	0.42105	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.39	3.39	0.38822	.	.	.	.	.	T	0.28699	0.0711	L	0.32530	0.975	0.26234	N	0.978966	D;D	0.69078	0.997;0.99	P;P	0.62184	0.899;0.836	T	0.04242	-1.0966	9	0.44086	T	0.13	-7.1742	8.4895	0.33091	1.0:0.0:0.0:0.0	.	442;442	Q96M63;Q96M63-5	CC114_HUMAN;.	P	442	ENSP00000318429:L442P	ENSP00000318429:L442P	L	-	2	0	CCDC114	53493135	0.003000	0.15002	0.028000	0.17463	0.007000	0.05969	1.147000	0.31602	1.774000	0.52232	0.533000	0.62120	CTA	CCDC114	-	NULL		0.692	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	A	NM_144577		48801323	-1	no_errors	ENST00000315396	ensembl	human	known	70_37	missense	SNP	0.290	G	G	48801323	A	G	48801323	3	3	137	1	0	0	0	0	1	0	0	0	2756	420	15	5	699	5	CCDC114	19	48801323	Missense_Mutation	SNP	A	TCGA-FU-A40J-01A-11D-A243-09	7853416	48801323	10327660	166	22777										
C19orf73	55150	genome.wustl.edu	37	chr19	49621985	49621985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcctacccttaagagcgtctGagggcgaaggccaagtccct	12	13	1	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:49621985G>A	ENST00000408991.2	-	1	412	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	99										large_intestine(1)|lung(2)	3						AAGAGCGTCTGAGGGCGAAGG	0.652																																																	0													62	73	70					19																	49621985		2132	4229	6361	SO:0001587	stop_gained	55150			AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.295C>T	19.37:g.49621985G>A	ENSP00000386230:p.Gln99*		Q6NSX4	Nonsense_Mutation	SNP	NULL	p.Q99*	ENST00000408991.2	37	c.295	CCDS42589.1	19	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573055	0.86542	.	.	ENSG00000221916	ENST00000408991	.	.	.	3.3	-0.419	0.12340	.	.	.	.	.	.	.	.	.	.	.	0.24335	N	0.994986	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.3285	0.21257	0.0:0.3906:0.4093:0.2001	.	.	.	.	X	99	.	ENSP00000386230:Q99X	Q	-	1	0	C19orf73	54313797	0.434000	0.25570	0.000000	0.03702	0.709000	0.40893	2.281000	0.43452	0.028000	0.15324	-0.310000	0.09108	CAG	C19orf73	-	NULL		0.652	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf73	HGNC	protein_coding	OTTHUMT00000466275.1	G	NM_018111		49621985	-1	no_errors	ENST00000408991	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	49621985	G	A	49621985	4	1	137	1	0	0	0	0	0	1	0	0	1953	1299	45	1	98	1	C19orf73	19	49621985	Nonsense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	820662	49621985	9506998	167	22778										
MYBPC2	4606	genome.wustl.edu	37	chr19	50961953	50961953	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgagtagttggggtcaacatCgcggggcgcagcgagccggc	18	11	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:50961953C>G	ENST00000357701.5	+	21	2499	c.2448C>G	c.(2446-2448)atC>atG	p.I816M		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	816	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGGTCAACATCGCGGGGCGCA	0.672																																																	0													30	38	35					19																	50961953		2022	4173	6195	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2448C>G	19.37:g.50961953C>G	ENSP00000350332:p.Ile816Met		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I816M	ENST00000357701.5	37	c.2448	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	12.85	2.060692	0.36373	.	.	ENSG00000086967	ENST00000357701	T	0.56941	0.43	4.05	-2.59	0.06209	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.478549	0.12918	U	0.428438	T	0.36082	0.0954	L	0.31926	0.97	0.32516	N	0.536859	P	0.35612	0.512	B	0.33042	0.157	T	0.40646	-0.9552	10	0.45353	T	0.12	.	10.3872	0.44148	0.0:0.6161:0.0:0.3839	.	816	Q14324	MYPC2_HUMAN	M	816	ENSP00000350332:I816M	ENSP00000350332:I816M	I	+	3	3	MYBPC2	55653765	0.000000	0.05858	0.993000	0.49108	0.968000	0.65278	-3.255000	0.00538	-0.317000	0.08677	0.457000	0.33378	ATC	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50961953	1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	0.997	G	G	50961953	C	G	50961953	3	3	137	1	0	0	0	0	1	0	0	0	10035	874	31	1	2530	1	MYBPC2	19	50961953	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1339968	50961953	8167030	168	22779										
ZNF701	55762	genome.wustl.edu	37	chr19	53077398	53077398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agaggaaagcaaaggagtcaGggatggctcttcttcaggtg	15	6	4	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:53077398G>T	ENST00000540331.1	+	3	421	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	ZNF701_ENST00000301093.2_Missense_Mutation_p.G66W|ZNF701_ENST00000391785.3_5'UTR|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAGGAGTCAGGGATGGCTCT	0.428																																					NSCLC(89;451 1475 9611 20673 52284)												0													181	138	152					19																	53077398		2203	4300	6503	SO:0001583	missense	55762			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.196G>T	19.37:g.53077398G>T	ENSP00000444339:p.Gly66Trp		A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G66W	ENST00000540331.1	37	c.196	CCDS54311.1	19	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300772	0.40694	.	.	ENSG00000167562	ENST00000301093;ENST00000540331	T;T	0.06142	3.34;3.34	1.17	-1.5	0.08691	.	.	.	.	.	T	0.10895	0.0266	L	0.34521	1.04	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.23976	-1.0173	8	.	.	.	.	4.1496	0.10232	0.4534:0.0:0.5466:0.0	.	66	F5GZM6	.	W	66	ENSP00000301093:G66W;ENSP00000444339:G66W	.	G	+	1	0	ZNF701	57769210	0.005000	0.15991	0.001000	0.08648	0.688000	0.40055	0.292000	0.19011	-0.372000	0.07992	0.306000	0.20318	GGG	ZNF701	-	NULL		0.428	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	G	NM_018260		53077398	1	no_errors	ENST00000301093	ensembl	human	known	70_37	missense	SNP	0.001	T	T	53077398	G	T	53077398	3	4	137	1	0	0	0	0	1	0	0	0	18135	1000	35	4	202	4	ZNF701	19	53077398	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	2115445	53077398	6051585	169	22780										
ZNF813	126017	genome.wustl.edu	37	chr19	53993928	53993928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gatcaagctttcattcgcatCtgcctgaactccacatgttt	6	12	3	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr19:53993928C>G	ENST00000396403.4	+	4	570	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	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)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATTCGCATCTGCCTGAACT	0.408																																																	0													158	162	161					19																	53993928		2203	4297	6500	SO:0001583	missense	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.442C>G	19.37:g.53993928C>G	ENSP00000379684:p.Leu148Val			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L148V	ENST00000396403.4	37	c.442	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975136	0.34848	.	.	ENSG00000198346	ENST00000468450;ENST00000396403	T;T	0.05717	3.69;3.4	0.961	0.961	0.19638	.	.	.	.	.	T	0.21962	0.0529	M	0.83692	2.655	0.46336	D	0.998997	D	0.89917	1.0	D	0.87578	0.998	T	0.01977	-1.1236	9	0.66056	D	0.02	.	7.7282	0.28771	0.0:1.0:0.0:0.0	.	148	Q6ZN06	ZN813_HUMAN	V	95;148	ENSP00000419821:L95V;ENSP00000379684:L148V	ENSP00000379684:L148V	L	+	1	2	ZNF813	58685740	0.000000	0.05858	0.007000	0.13788	0.059000	0.15707	-1.259000	0.02861	0.820000	0.34516	0.205000	0.17691	CTG	ZNF813	-	NULL		0.408	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	C	NM_001004301		53993928	1	no_errors	ENST00000396403	ensembl	human	known	70_37	missense	SNP	0.327	G	G	53993928	C	G	53993928	3	3	137	1	0	0	0	0	1	0	0	0	18205	912	32	1	452	1	ZNF813	19	53993928	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	916530	53993928	5135055	170	22781										
INSM1	3642	genome.wustl.edu	37	chr20	20350277	20350277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cgttcgccagcaagggcgctCaggagcgccacctgcgcctg	14	16	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:20350277C>G	ENST00000310227.1	+	1	1513	c.1366C>G	c.(1366-1368)Cag>Gag	p.Q456E		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	456					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CAAGGGCGCTCAGGAGCGCCA	0.716																																																	0													18	21	20					20																	20350277		2182	4279	6461	SO:0001583	missense	3642				CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1366C>G	20.37:g.20350277C>G	ENSP00000312631:p.Gln456Glu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q456E	ENST00000310227.1	37	c.1366	CCDS13143.1	20	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573412	0.65765	.	.	ENSG00000173404	ENST00000310227	T	0.27720	1.65	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.64402	U	0.000002	T	0.48241	0.1489	M	0.62723	1.935	0.35210	D	0.775054	D	0.58620	0.983	P	0.57620	0.824	T	0.60929	-0.7165	10	0.62326	D	0.03	-17.0604	15.5543	0.76180	0.1384:0.8616:0.0:0.0	.	456	Q01101	INSM1_HUMAN	E	456	ENSP00000312631:Q456E	ENSP00000312631:Q456E	Q	+	1	0	INSM1	20298277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.578000	0.60929	2.522000	0.85027	0.650000	0.86243	CAG	INSM1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.716	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSM1	HGNC	protein_coding	OTTHUMT00000078223.1	C	NM_002196		20350277	1	no_errors	ENST00000310227	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20350277	C	G	20350277	3	3	137	1	0	0	0	0	1	0	0	0	7791	827	29	1	1368	1	INSM1	20	20350277	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		20350277	42675243	171	22782										
NKX2-2	4821	genome.wustl.edu	37	chr20	21492887	21492887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gacctgcgtgggcgtgaggcGgatgaggctggccaggtgtt	20	8	0	2	rs375540703		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:21492887G>A	ENST00000377142.4	-	2	852	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	166					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCGTGAGGCGGATGAGGCTG	0.652																																																	0													40	41	41					20																	21492887		2202	4300	6502	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.496C>T	20.37:g.21492887G>A	ENSP00000366347:p.Arg166Cys			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R166C	ENST00000377142.4	37	c.496	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341786	0.81911	.	.	ENSG00000125820	ENST00000377142	D	0.95756	-3.8	4.98	4.98	0.66077	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	N	0.12746	0.255	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96797	0.9586	10	0.87932	D	0	.	17.8583	0.88773	0.0:0.0:1.0:0.0	.	166	O95096	NKX22_HUMAN	C	166	ENSP00000366347:R166C	ENSP00000366347:R166C	R	-	1	0	NKX2-2	21440887	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.125000	0.57931	2.291000	0.77112	0.462000	0.41574	CGC	NKX2-2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.652	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	G			21492887	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21492887	G	A	21492887	3	1	137	1	0	0	0	0	1	0	0	0	10474	1116	39	2	329	2	NKX2-2	20	21492887	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1142610	21492887	41532633	172	22783										
CST9L	128821	genome.wustl.edu	37	chr20	23545643	23545643	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgaactgagtcatccagggcCtggtgctgatggtgaagaag	15	7	1	5			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:23545643C>G	ENST00000376979.3	-	3	684	c.386G>C	c.(385-387)aGg>aCg	p.R129T		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	129						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CATCCAGGGCCTGGTGCTGAT	0.547																																																	0													156	137	143					20																	23545643		2203	4300	6503	SO:0001583	missense	128821				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.386G>C	20.37:g.23545643C>G	ENSP00000366178:p.Arg129Thr		B2R5A1	Missense_Mutation	SNP	pfam_Prot_inh_cystat	p.R129T	ENST00000376979.3	37	c.386	CCDS13157.1	20	.	.	.	.	.	.	.	.	.	.	C	1.577	-0.532507	0.04112	.	.	ENSG00000101435	ENST00000376979	T	0.26660	1.72	1.09	-2.19	0.07015	Proteinase inhibitor I25, cystatin (2);	2.217160	0.02388	N	0.079438	T	0.19685	0.0473	L	0.49778	1.585	0.09310	N	1	B	0.31769	0.339	B	0.33042	0.157	T	0.07558	-1.0766	10	0.14656	T	0.56	.	0.0796	0.00030	0.248:0.225:0.249:0.278	.	129	Q9H4G1	CST9L_HUMAN	T	129	ENSP00000366178:R129T	ENSP00000366178:R129T	R	-	2	0	CST9L	23493643	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.535000	0.06142	-1.552000	0.01704	-0.680000	0.03767	AGG	CST9L	-	pfam_Prot_inh_cystat		0.547	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST9L	HGNC	protein_coding	OTTHUMT00000078338.1	C	NM_080610		23545643	-1	no_errors	ENST00000376979	ensembl	human	known	70_37	missense	SNP	0.001	G	G	23545643	C	G	23545643	3	3	137	1	0	0	0	0	1	0	0	0	3985	681	24	4	61	4	CST9L	20	23545643	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	2052756	23545643	39479877	173	22784										
CST1	1469	genome.wustl.edu	37	chr20	23729716	23729716	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttgggctgggacttggtacaTatggtgcggcccacctctac	13	11	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:23729716T>A	ENST00000304749.2	-	2	349	c.279A>T	c.(277-279)atA>atT	p.I93I	CST1_ENST00000398402.1_Silent_p.I93I	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	93					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACTTGGTACATATGGTGCGGC	0.567																																																	0													203	165	178					20																	23729716		2203	4298	6501	SO:0001819	synonymous_variant	1469			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.279A>T	20.37:g.23729716T>A			Q96LE6|Q9UCQ6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.I93	ENST00000304749.2	37	c.279	CCDS13160.1	20																																																																																			CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	T	NM_001898		23729716	-1	no_errors	ENST00000304749	ensembl	human	known	70_37	silent	SNP	0.844	A	A	23729716	T	A	23729716	2	1	137	1	0	0	0	0	0	0	0	1	3975	1396	49	5		5	CST1	20	23729716	Silent	SNP	T	TCGA-FU-A40J-01A-11D-A243-09	184073	23729716	39295804	174	22785										
EPB41L1	2036	genome.wustl.edu	37	chr20	34763472	34763472	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttcccttgcttggtcctgcaGagcctagacatggaggagaa	12	10	0	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:34763472G>C	ENST00000338074.2	+	3	338		c.e3-1		EPB41L1_ENST00000373941.1_Splice_Site|EPB41L1_ENST00000202028.5_Splice_Site|EPB41L1_ENST00000441639.1_Splice_Site|EPB41L1_ENST00000373950.2_Splice_Site|EPB41L1_ENST00000373946.3_Splice_Site	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGGTCCTGCAGAGCCTAGACA	0.517																																																	0													82	76	78					20																	34763472		2203	4300	6503	SO:0001630	splice_region_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.178-1G>C	20.37:g.34763472G>C			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Splice_Site	SNP	-	e2-1	ENST00000338074.2	37	c.178-1	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141042	0.77775	.	.	ENSG00000088367	ENST00000406771;ENST00000397315;ENST00000452261;ENST00000447825;ENST00000373946;ENST00000338074;ENST00000373941	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6269	0.91344	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPB41L1	34226886	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.507000	0.66999	2.735000	0.93741	0.655000	0.94253	.	EPB41L1	-	-		0.517	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	G	NM_012156	Intron	34763472	1	no_errors	ENST00000338074	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	34763472	G	C	34763472	5	2	137	1	0	0	0	0	0	0	1	0	5164	956	33	1	183	1	EPB41L1	20	34763472	Splice_Site	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	11033756	34763472	28262048	175	22786										
SLC12A5	57468	genome.wustl.edu	37	chr20	44670127	44670127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gatgaatacttcacccgaaaCaatgtcacagagatccaggg	9	10	2	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:44670127C>A	ENST00000454036.2	+	8	1132	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.N338K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	361					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACCCGAAACAATGTCACAG	0.572																																																	0													86	80	82					20																	44670127		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1083C>A	20.37:g.44670127C>A	ENSP00000387694:p.Asn361Lys		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N361K	ENST00000454036.2	37	c.1083	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357857	0.82243	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68025	-0.3;-0.3	4.77	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.76328	2.33	0.80722	D	1	D;D	0.71674	0.992;0.998	P;D	0.68483	0.805;0.958	T	0.78406	-0.2216	10	0.40728	T	0.16	.	12.3007	0.54872	0.0:0.9184:0.0:0.0816	.	361;338	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	K	361;338	ENSP00000387694:N361K;ENSP00000243964:N338K	ENSP00000243964:N338K	N	+	3	2	SLC12A5	44103534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.906000	0.56340	1.229000	0.43630	0.655000	0.94253	AAC	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.572	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44670127	1	no_errors	ENST00000454036	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44670127	C	A	44670127	3	1	137	1	0	0	0	0	1	0	0	0	14416	477	17	4	1169	4	SLC12A5	20	44670127	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	9906655	44670127	18355393	176	22787										
TPD52L2	7165	genome.wustl.edu	37	chr20	62507208	62507208	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aaacttggagagtggaatgaGaaagtgacccagtcagacct	12	7	1	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr20:62507208G>C	ENST00000346249.4	+	4	430	c.354G>C	c.(352-354)gaG>gaC	p.E118D	TPD52L2_ENST00000358548.4_Intron|TPD52L2_ENST00000217121.5_Missense_Mutation_p.E118D|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000352482.4_Missense_Mutation_p.E118D|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000351424.4_Intron	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	118					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AGTGGAATGAGAAAGTGACCC	0.463																																																	0													143	134	137					20																	62507208		2203	4300	6503	SO:0001583	missense	7165			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.354G>C	20.37:g.62507208G>C	ENSP00000343547:p.Glu118Asp		B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	pfam_TPD52	p.E118D	ENST00000346249.4	37	c.354	CCDS13540.1	20	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881237	0.33255	.	.	ENSG00000101150	ENST00000346249;ENST00000352482;ENST00000217121	T;T;T	0.32023	1.47;1.49;1.47	5.78	1.44	0.22558	.	0.197000	0.42964	N	0.000625	T	0.17066	0.0410	L	0.35723	1.085	0.80722	D	1	B;B;B;B;B	0.16396	0.001;0.017;0.017;0.017;0.017	B;B;B;B;B	0.22386	0.007;0.014;0.014;0.027;0.039	T	0.21999	-1.0229	10	0.02654	T	1	-23.7185	6.0995	0.20039	0.2031:0.2786:0.5183:0.0	.	69;118;118;118;118	B4DDV4;Q6FGS1;O43399;Q5U0E0;Q5JWU6	.;.;TPD54_HUMAN;.;.	D	118	ENSP00000343547:E118D;ENSP00000344647:E118D;ENSP00000217121:E118D	ENSP00000217121:E118D	E	+	3	2	TPD52L2	61977652	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.306000	0.33505	0.062000	0.16340	0.555000	0.69702	GAG	TPD52L2	-	pfam_TPD52		0.463	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	HGNC	protein_coding	OTTHUMT00000080248.1	G			62507208	1	no_errors	ENST00000217121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62507208	G	C	62507208	3	2	137	1	0	0	0	0	1	0	0	0	16430	933	33	1	368	1	TPD52L2	20	62507208	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	17837081	62507208	518312	177	22788										
BACH1	571	genome.wustl.edu	37	chr21	30699443	30699443	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	acagatctcacagaaacggtCtgagtgtccgtggttaggta	12	8	2	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr21:30699443C>G	ENST00000399921.1	+	3	1541	c.1298C>G	c.(1297-1299)tCt>tGt	p.S433C	BACH1_ENST00000286800.3_Missense_Mutation_p.S433C	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CAGAAACGGTCTGAGTGTCCG	0.473																																																	0													82	76	78					21																	30699443		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1298C>G	21.37:g.30699443C>G	ENSP00000382805:p.Ser433Cys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S433C	ENST00000399921.1	37	c.1298	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651709	0.67472	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.75050	-0.9;-0.9	5.79	3.89	0.44902	.	0.348206	0.28754	N	0.014244	T	0.71367	0.3331	L	0.34521	1.04	0.38841	D	0.956053	D	0.61697	0.99	P	0.54401	0.751	T	0.72795	-0.4185	10	0.72032	D	0.01	-8.2787	7.8632	0.29522	0.2842:0.6408:0.0:0.075	.	433	O14867	BACH1_HUMAN	C	433	ENSP00000286800:S433C;ENSP00000382805:S433C	ENSP00000286800:S433C	S	+	2	0	BACH1	29621314	0.962000	0.33011	0.989000	0.46669	0.996000	0.88848	3.022000	0.49659	0.709000	0.31976	0.655000	0.94253	TCT	BACH1	-	NULL		0.473	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	C	NM_206866		30699443	1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	0.810	G	G	30699443	C	G	30699443	3	3	137	1	0	0	0	0	1	0	0	0	1284	913	32	1	1304	1	BACH1	21	30699443	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		30699443	17430452	178	22789										
KRTAP19-8	728299	genome.wustl.edu	37	chr21	32410600	32410600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ggcagagaatccatatcctcCgtagtataatggtcggcaac	10	10	0	1	rs200348786		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr21:32410600C>T	ENST00000382822.2	-	1	195	c.163G>A	c.(163-165)Gga>Aga	p.G55R		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	55						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						CCATATCCTCCGTAGTATAAT	0.483																																																	0								C	ARG/GLY	1,4397	2.1+/-5.4	0,1,2198	90	109	103		163	3.4	0	21		103	2,8594	2.2+/-6.3	0,2,4296	yes	missense	KRTAP19-8	NM_001099219.1	125	0,3,6494	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	55/64	32410600	3,12991	2199	4298	6497	SO:0001583	missense	728299			AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.163G>A	21.37:g.32410600C>T	ENSP00000372272:p.Gly55Arg			Missense_Mutation	SNP	pfam_KRTAP	p.G55R	ENST00000382822.2	37	c.163	CCDS42917.1	21	.	.	.	.	.	.	.	.	.	.	C	8.147	0.786430	0.16189	2.27E-4	2.33E-4	ENSG00000206102	ENST00000382822	T	0.11277	2.79	4.31	3.41	0.39046	.	0.480462	0.14821	N	0.296474	T	0.19725	0.0474	.	.	.	0.09310	N	1	D	0.57899	0.981	P	0.54460	0.753	T	0.04885	-1.0920	9	0.87932	D	0	.	8.1256	0.30997	0.0:0.8883:0.0:0.1117	.	55	Q3LI54	KR198_HUMAN	R	55	ENSP00000372272:G55R	ENSP00000372272:G55R	G	-	1	0	KRTAP19-8	31332471	0.005000	0.15991	0.028000	0.17463	0.010000	0.07245	0.208000	0.17415	1.152000	0.42452	0.505000	0.49811	GGA	KRTAP19-8	-	pfam_KRTAP		0.483	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP19-8	HGNC	protein_coding	OTTHUMT00000128239.3	C	NM_001099219		32410600	-1	no_errors	ENST00000382822	ensembl	human	known	70_37	missense	SNP	0.061	T	T	32410600	C	T	32410600	3	4	137	1	0	0	0	0	1	0	0	0	8555	661	23	2	32	2	KRTAP19-8	21	32410600	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	1711157	32410600	15719295	179	22790										
C22orf23	84645	genome.wustl.edu	37	chr22	38343409	38343409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tagatgggcgaggctatttgCttggaaggtaagactctctg	14	6	1	2	rs536199238		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr22:38343409C>A	ENST00000249079.2	-	4	484	c.228G>T	c.(226-228)aaG>aaT	p.K76N	C22orf23_ENST00000403305.1_Missense_Mutation_p.K76N|C22orf23_ENST00000403026.1_Missense_Mutation_p.K76N			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	76										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AGGCTATTTGCTTGGAAGGTA	0.617																																																	0													133	115	121					22																	38343409		2203	4300	6503	SO:0001583	missense	84645			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.228G>T	22.37:g.38343409C>A	ENSP00000249079:p.Lys76Asn		Q5JYU9|Q96M68	Missense_Mutation	SNP	pfam_UPF0193	p.K76N	ENST00000249079.2	37	c.228	CCDS13962.1	22	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196042	0.38806	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T	0.52057	0.7;0.7;0.7;0.68	5.38	1.96	0.26148	.	0.532223	0.18430	N	0.141462	T	0.48447	0.1500	M	0.72894	2.215	0.09310	N	0.999998	P	0.51147	0.942	P	0.49999	0.628	T	0.37454	-0.9705	10	0.41790	T	0.15	-13.1409	3.1692	0.06546	0.1374:0.5655:0.1337:0.1635	.	76	Q9BZE7	EVG1_HUMAN	N	76	ENSP00000384667:K76N;ENSP00000249079:K76N;ENSP00000384618:K76N;ENSP00000395077:K76N	ENSP00000249079:K76N	K	-	3	2	C22orf23	36673355	0.173000	0.23056	0.687000	0.30102	0.301000	0.27625	-0.021000	0.12504	0.570000	0.29347	0.555000	0.69702	AAG	C22orf23	-	pfam_UPF0193		0.617	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C22orf23	HGNC	protein_coding	OTTHUMT00000319564.1	C	NM_032561		38343409	-1	no_errors	ENST00000249079	ensembl	human	known	70_37	missense	SNP	0.076	A	A	38343409	C	A	38343409	3	1	137	1	0	0	0	0	1	0	0	0	2142	796	28	4	441	4	C22orf23	22	38343409	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		38343409	12961157	180	22791										
APOBEC3H	164668	genome.wustl.edu	37	chr22	39497356	39497356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ggagcccctgctcctcctgtGcctgggagctggttgacttc	13	14	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr22:39497356G>T	ENST00000401756.1	+	3	341	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	APOBEC3H_ENST00000348946.4_Missense_Mutation_p.A89S|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.A89S|APOBEC3H_ENST00000442487.3_Missense_Mutation_p.A89S	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	89					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CTCCTCCTGTGCCTGGGAGCT	0.552																																																	0													121	90	101					22																	39497356		2203	4300	6503	SO:0001583	missense	164668			BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"Apolipoprotein B mRNA editing enzymes"	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.265G>T	22.37:g.39497356G>T	ENSP00000385741:p.Ala89Ser		B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.A89S	ENST00000401756.1	37	c.265	CCDS54530.1	22	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152584	0.57259	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	3.33	3.33	0.38152	.	.	.	.	.	D	0.84005	0.5377	M	0.94021	3.485	0.09310	N	1	D	0.60160	0.987	D	0.68039	0.955	T	0.73681	-0.3906	9	0.87932	D	0	-18.9292	10.4718	0.44642	0.0:0.0:1.0:0.0	.	89	B7TQM3	.	S	89	ENSP00000216123:A89S;ENSP00000411754:A89S;ENSP00000393520:A89S;ENSP00000385741:A89S	ENSP00000216123:A89S	A	+	1	0	APOBEC3H	37827302	0.359000	0.24955	0.179000	0.23059	0.026000	0.11368	2.151000	0.42263	2.179000	0.69175	0.460000	0.39030	GCC	APOBEC3H	-	pfam_APOBEC_N,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like		0.552	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	APOBEC3H	HGNC	protein_coding	OTTHUMT00000321230.1	G	NM_181773		39497356	1	no_errors	ENST00000442487	ensembl	human	known	70_37	missense	SNP	0.200	T	T	39497356	G	T	39497356	3	4	137	1	0	0	0	0	1	0	0	0	795	1319	46	4	271	4	APOBEC3H	22	39497356	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1153947	39497356	11807210	181	22792										
ENTHD1	150350	genome.wustl.edu	37	chr22	40161572	40161572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcttgtccaaactcacatctCtctgcccagaaggactattt	5	13	4	1	rs111738363	byFrequency	TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr22:40161572C>T	ENST00000325157.6	-	6	1125	c.875G>A	c.(874-876)aGa>aAa	p.R292K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	292										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACTCACATCTCTCTGCCCAGA	0.358																																																	0													102	107	105					22																	40161572		2201	4298	6499	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.875G>A	22.37:g.40161572C>T	ENSP00000317431:p.Arg292Lys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.R292K	ENST00000325157.6	37	c.875	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749537	0.49257	.	.	ENSG00000176177	ENST00000325157	T	0.41400	1.0	5.79	3.61	0.41365	.	0.344271	0.23879	N	0.043672	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	10	0.19590	T	0.45	-0.6508	7.5507	0.27796	0.0845:0.3206:0.5949:0.0	.	292	Q8IYW4	ENTD1_HUMAN	K	292	ENSP00000317431:R292K	ENSP00000317431:R292K	R	-	2	0	ENTHD1	38491518	0.007000	0.16637	0.005000	0.12908	0.080000	0.17528	0.547000	0.23299	0.815000	0.34398	-0.120000	0.15030	AGA	ENTHD1	-	NULL		0.358	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	C	NM_152512		40161572	-1	no_errors	ENST00000325157	ensembl	human	known	70_37	missense	SNP	0.003	T	T	40161572	C	T	40161572	3	4	137	1	0	0	0	0	1	0	0	0	5149	913	32	1	956	1	ENTHD1	22	40161572	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	664216	40161572	11142994	182	22793										
PPPDE2	27351	genome.wustl.edu	37	chr22	42016793	42016793	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agccgccgggccaggcctttGgacaggtcgtacacgtagag	15	12	0	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr22:42016793G>C	ENST00000263256.6	-	1	307	c.51C>G	c.(49-51)tcC>tcG	p.S17S	XRCC6_ENST00000405878.1_5'Flank|XRCC6_ENST00000402580.3_5'Flank|XRCC6_ENST00000359308.4_5'Flank|XRCC6_ENST00000360079.3_5'Flank|XRCC6_ENST00000428575.2_5'Flank|XRCC6_ENST00000405506.1_5'Flank	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	17	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										CCAGGCCTTTGGACAGGTCGT	0.721																																																	0													29	28	28					22																	42016793		2202	4300	6502	SO:0001819	synonymous_variant	27351			AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"family with sequence similarity 152, member B", "PPPDE peptidase domain containing 2"	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.51C>G	22.37:g.42016793G>C				Silent	SNP	pfam_DUF862_euk	p.S17	ENST00000263256.6	37	c.51	CCDS33652.1	22																																																																																			DESI1	-	pfam_DUF862_euk		0.721	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DESI1	HGNC	protein_coding	OTTHUMT00000104124.3	G	NM_015704		42016793	-1	no_errors	ENST00000263256	ensembl	human	novel	70_37	silent	SNP	1.000	C	C	42016793	G	C	42016793	2	2	137	1	0	0	0	0	0	0	0	1	12436	1335	47	4		4	PPPDE2	22	42016793	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1855221	42016793	9287773	183	22794										
CELSR1	9620	genome.wustl.edu	37	chr22	46780440	46780440	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	aggtttctaagcggttttacCtttttcttcaggtggtctga	10	7	4	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr22:46780440C>G	ENST00000262738.3	-	20	6882	c.6883G>C	c.(6883-6885)Gaa>Caa	p.E2295Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2295					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGGTTTTACCTTTTTCTTCA	0.612																																																	0													36	38	37					22																	46780440		2203	4300	6503	SO:0001630	splice_region_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6883+1G>C	22.37:g.46780440C>G			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2295Q	ENST00000262738.3	37	c.6883	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	9.935	1.215999	0.22373	.	.	ENSG00000075275	ENST00000262738	T	0.67865	-0.29	5.15	5.15	0.70609	Domain of unknown function DUF3497 (1);	0.341025	0.23969	U	0.042781	T	0.68476	0.3005	L	0.44542	1.39	0.80722	D	1	P;B	0.44627	0.839;0.034	P;B	0.48738	0.588;0.038	T	0.66316	-0.5954	9	.	.	.	.	18.2421	0.89970	0.0:1.0:0.0:0.0	.	616;2295	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	Q	2295	ENSP00000262738:E2295Q	.	E	-	1	0	CELSR1	45159104	1.000000	0.71417	0.765000	0.31456	0.094000	0.18550	3.712000	0.54875	2.409000	0.81822	0.655000	0.94253	GAA	CELSR1	-	pfam_DUF3497		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246	Missense_Mutation	46780440	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46780440	C	G	46780440	5	3	137	1	0	0	0	0	0	0	1	0	3226	695	24	4	2225	4	CELSR1	22	46780440	Splice_Site	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	4763647	46780440	4524126	184	22795										
CELSR1	9620	genome.wustl.edu	37	chr22	46787540	46787540	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caacgcggaccttcacagccGagcgtggtgacctcggcaaa	12	14	1	1	rs370545626		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chr22:46787540G>A	ENST00000262738.3	-	15	6137	c.6138C>T	c.(6136-6138)ctC>ctT	p.L2046L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2046	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCACAGCCGAGCGTGGTGA	0.672																																																	0								A		0,4406		0,0,2203	31	29	30		6138	-8.9	0	22		30	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	CELSR1	NM_014246.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		2046/3015	46787540	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6138C>T	22.37:g.46787540G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2046	ENST00000262738.3	37	c.6138	CCDS14076.1	22																																																																																			CELSR1	-	smart_EGF_laminin,pfscan_EGF_laminin,pfscan_GPCR_2_extracellular_dom		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	G	NM_014246		46787540	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46787540	G	A	46787540	2	1	137	1	0	0	0	0	0	0	0	1	3226	1045	37	1		1	CELSR1	22	46787540	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	7100	46787540	4517026	185	22796										
ARHGAP6	395	genome.wustl.edu	37	chrX	11162183	11162183	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gcataaactgccctggcactCtgtaaagcttctccgagccc	8	15	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:11162183C>G	ENST00000337414.4	-	11	2965	c.2093G>C	c.(2092-2094)aGa>aCa	p.R698T	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R698T|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R495T|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R495T|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R523T|ARHGAP6_ENST00000413512.3_3'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	698					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCTGGCACTCTGTAAAGCTT	0.587											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93	89	90					X																	11162183		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2093G>C	X.37:g.11162183C>G	ENSP00000338967:p.Arg698Thr	670	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R698T	ENST00000337414.4	37	c.2093	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525264	0.27299	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718	T;T;T;T;T;T	0.23348	1.99;2.05;2.05;2.06;1.91;1.95	5.51	3.11	0.35812	.	0.108806	0.40144	N	0.001170	T	0.13286	0.0322	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.29341	0.034;0.034;0.242;0.242	B;B;B;B	0.26416	0.022;0.022;0.069;0.069	T	0.15407	-1.0438	10	0.23302	T	0.38	.	9.4428	0.38679	0.0:0.2846:0.0:0.7154	.	495;698;698;698	O43182-5;O43182-2;O43182;A8KAL3	.;.;RHG06_HUMAN;.	T	523;495;495;698;534;698	ENSP00000438135:R523T;ENSP00000370112:R495T;ENSP00000302312:R495T;ENSP00000338967:R698T;ENSP00000370093:R534T;ENSP00000370094:R698T	ENSP00000302312:R495T	R	-	2	0	ARHGAP6	11072104	0.995000	0.38212	0.992000	0.48379	0.652000	0.38707	0.789000	0.26886	-0.018000	0.14079	-0.452000	0.05504	AGA	ARHGAP6	-	NULL		0.587	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11162183	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	0.953	G	G	11162183	C	G	11162183	3	3	137	1	0	0	0	0	1	0	0	0	887	913	32	1	965	1	ARHGAP6	23	11162183	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09		11162183	144108377	186	22797										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765682	27765682	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gtttccgcctgcaatatcgtCttgcagaccatgtcggctgt	10	12	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:27765682C>T	ENST00000451261.2	+	5	1069	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	224										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCAATATCGTCTTGCAGACCA	0.557																																																	0													62	51	54					X																	27765682		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.670C>T	X.37:g.27765682C>T	ENSP00000462745:p.Leu224Phe		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L224F	ENST00000451261.2	37	c.670	CCDS59162.1	X																																																																																			DCAF8L2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.557	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27765682	1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	0.904	T	T	27765682	C	T	27765682	3	4	137	1	0	0	0	0	1	0	0	0	4283	913	32	1	672	1	DCAF8L2	23	27765682	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	16603499	27765682	127504878	187	22798										
DMD	1756	genome.wustl.edu	37	chrX	32383310	32383310	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ctgtttctcaatctctttttGagtagcctgtgaaaaggaga	9	7	2	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:32383310G>A	ENST00000357033.4	-	35	5058	c.4852C>T	c.(4852-4854)Caa>Taa	p.Q1618*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1614*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1618	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTCTTTTTGAGTAGCCTGT	0.408																																																	0			GRCh37	CM022951	DMD	M							105	85	92					X																	32383310		2202	4300	6502	SO:0001587	stop_gained	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4852C>T	X.37:g.32383310G>A	ENSP00000354923:p.Gln1618*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	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,pfam_CAMSAP_CH,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.Q1618*	ENST00000357033.4	37	c.4852	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	46	12.294022	0.99654	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000420596	.	.	.	5.78	5.78	0.91487	.	0.242590	0.20851	U	0.084533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	18.9267	0.92548	0.0:0.0:1.0:0.0	.	.	.	.	X	1610;277;274;1614;1618;1618;1495;34	.	ENSP00000354923:Q1618X	Q	-	1	0	DMD	32293231	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.717000	0.84732	2.417000	0.82017	0.600000	0.82982	CAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32383310	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	nonsense	SNP	0.981	A	A	32383310	G	A	32383310	4	1	137	1	0	0	0	0	0	1	0	0	4590	1299	45	1	6533	1	DMD	23	32383310	Nonsense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	4617628	32383310	122887250	188	22799										
ARAF	369	genome.wustl.edu	37	chrX	47426651	47426651	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gaacctggggtaccgggactCaggctattactgggaggtac	15	9	1	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:47426651C>G	ENST00000377045.4	+	10	1090	c.896C>G	c.(895-897)tCa>tGa	p.S299*	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	299					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TACCGGGACTCAGGCTATTAC	0.612																																																	0													71	51	58					X																	47426651		2203	4299	6502	SO:0001587	stop_gained	369			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.896C>G	X.37:g.47426651C>G	ENSP00000366244:p.Ser299*		P07557|Q5H9B2|Q5H9B3	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.S299*	ENST00000377045.4	37	c.896	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.489453	0.98316	.	.	ENSG00000078061	ENST00000377045	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4784	0.84144	0.0:1.0:0.0:0.0	.	.	.	.	X	299	.	ENSP00000366244:S299X	S	+	2	0	ARAF	47311595	1.000000	0.71417	0.937000	0.37676	0.970000	0.65996	7.489000	0.81451	2.499000	0.84300	0.422000	0.28245	TCA	ARAF	-	superfamily_Kinase-like_dom		0.612	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	C			47426651	1	no_errors	ENST00000377045	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	47426651	C	G	47426651	4	3	137	1	0	0	0	0	0	1	0	0	837	838	29	1	930	1	ARAF	23	47426651	Nonsense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	15043341	47426651	107843909	189	22800										
ZNF630	57232	genome.wustl.edu	37	chrX	47919232	47919232	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atctcttagtggggttctttCttgcatagctcctgttataa	8	8	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:47919232C>A	ENST00000409324.3	-	5	825	c.599G>T	c.(598-600)aGa>aTa	p.R200I	ZNF630_ENST00000276054.4_Missense_Mutation_p.R76I|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R186I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GGGGTTCTTTCTTGCATAGCT	0.383																																																	0													54	47	49					X																	47919232		2193	4290	6483	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.599G>T	X.37:g.47919232C>A	ENSP00000386393:p.Arg200Ile		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R200I	ENST00000409324.3	37	c.599	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	15.02	2.709860	0.48517	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686	T;T;T;T	0.09445	3.15;2.98;3.22;5.29	2.65	-0.21	0.13176	.	.	.	.	.	T	0.05364	0.0142	N	0.20986	0.625	0.26874	N	0.967683	P	0.39964	0.697	B	0.29440	0.102	T	0.29731	-1.0002	9	0.87932	D	0	.	5.1186	0.14849	0.0:0.5:0.3607:0.1392	.	200	Q2M218	ZN630_HUMAN	I	186;76;200;200	ENSP00000393163:R186I;ENSP00000354683:R76I;ENSP00000386393:R200I;ENSP00000407278:R200I	ENSP00000354683:R76I	R	-	2	0	ZNF630	47804176	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	0.191000	0.17076	-0.373000	0.07979	0.544000	0.68410	AGA	ZNF630	-	NULL		0.383	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47919232	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.505	A	A	47919232	C	A	47919232	3	1	137	1	0	0	0	0	1	0	0	0	18084	913	32	3	1378	3	ZNF630	23	47919232	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	492581	47919232	107351328	190	22801										
GPKOW	27238	genome.wustl.edu	37	chrX	48972640	48972640	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	atgtagagttcttgattccaGagggtcttccgtgatgaggc	13	7	2	5			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:48972640G>A	ENST00000156109.5	-	7	1029	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	317				L -> F (in Ref. 3; BAD93043). {ECO:0000305}.		nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CTTGATTCCAGAGGGTCTTCC	0.542																																																	0													266	199	222					X																	48972640		2203	4300	6503	SO:0001819	synonymous_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.951C>T	X.37:g.48972640G>A			Q59EK5|Q9BQA8	Silent	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.L317	ENST00000156109.5	37	c.951	CCDS35251.1	X																																																																																			GPKOW	-	NULL		0.542	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	G	NM_015698		48972640	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48972640	G	A	48972640	2	1	137	1	0	0	0	0	0	0	0	1	6632	929	33	1		1	GPKOW	23	48972640	Silent	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1053408	48972640	106297920	191	22802										
GPKOW	27238	genome.wustl.edu	37	chrX	48973411	48973411	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	caaggtgttcttgtcaaactCctgctgggagacaggccgca	12	11	2	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:48973411C>A	ENST00000156109.5	-	6	964	c.886G>T	c.(886-888)Gag>Tag	p.E296*		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	296						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TTGTCAAACTCCTGCTGGGAG	0.577																																																	0													93	76	82					X																	48973411		2203	4300	6503	SO:0001587	stop_gained	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.886G>T	X.37:g.48973411C>A	ENSP00000156109:p.Glu296*		Q59EK5|Q9BQA8	Nonsense_Mutation	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.E296*	ENST00000156109.5	37	c.886	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.587720	0.96590	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.2382	10.0577	0.42255	0.0:0.9023:0.0:0.0977	.	.	.	.	X	296	.	ENSP00000156109:E296X	E	-	1	0	GPKOW	48860355	1.000000	0.71417	0.959000	0.39883	0.753000	0.42808	5.455000	0.66658	2.176000	0.68965	0.591000	0.81541	GAG	GPKOW	-	NULL		0.577	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698		48973411	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	48973411	C	A	48973411	4	1	137	1	0	0	0	0	0	1	0	0	6632	864	30	3	568	3	GPKOW	23	48973411	Nonsense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	771	48973411	106297149	192	22803										
SERPINA7	6906	genome.wustl.edu	37	chrX	105279118	105279118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tttaccccttctgtagtaagCggttccacttcttcagtgtt	7	11	3	0	rs375380232		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:105279118C>T	ENST00000327674.4	-	2	1216	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.R294H|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	294					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTGTAGTAAGCGGTTCCACTT	0.493																																																	0								C	HIS/ARG	0,3835		0,0,0,1632,571	216	208	211		881	-1.4	0	X		211	1,6727		0,0,1,2428,1871	no	missense	SERPINA7	NM_000354.5	29	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	294/416	105279118	1,10562	2203	4300	6503	SO:0001583	missense	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.881G>A	X.37:g.105279118C>T	ENSP00000329374:p.Arg294His		D3DUX1	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.R294H	ENST00000327674.4	37	c.881	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.096529	0.01843	0.0	1.49E-4	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.87887	-2.31;-2.31	4.63	-1.42	0.08913	Serpin domain (3);	1.027290	0.07715	N	0.942678	T	0.75496	0.3857	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.56111	-0.8033	10	0.14252	T	0.57	.	8.7991	0.34898	0.0:0.3457:0.0:0.6543	.	294	P05543	THBG_HUMAN	H	294	ENSP00000329374:R294H;ENSP00000361644:R294H	ENSP00000329374:R294H	R	-	2	0	SERPINA7	105165774	0.000000	0.05858	0.016000	0.15963	0.665000	0.39181	-0.142000	0.10311	-0.340000	0.08388	-0.197000	0.12766	CGC	SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.493	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	C	NM_000354		105279118	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	missense	SNP	0.231	T	T	105279118	C	T	105279118	3	4	137	1	0	0	0	0	1	0	0	0	14124	768	27	2	378	2	SERPINA7	23	105279118	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	56305707	105279118	49991442	193	22804										
ZBTB33	10009	genome.wustl.edu	37	chrX	119388943	119388943	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	gtgtttggcctgtggcaaatCtttcatcaactatcagttta	8	8	4	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:119388943C>T	ENST00000326624.2	+	2	1901	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S558F	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	558	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGGCAAATCTTTCATCAAC	0.413																																																	0													140	125	130					X																	119388943		2203	4300	6503	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1673C>T	X.37:g.119388943C>T	ENSP00000314153:p.Ser558Phe		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S558F	ENST00000326624.2	37	c.1673	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730092	0.48939	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.19394	2.15;2.15	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.161068	0.56097	D	0.000029	T	0.41419	0.1158	L	0.55834	1.745	0.46317	D	0.998983	D	0.60160	0.987	P	0.62885	0.908	T	0.21449	-1.0245	10	0.72032	D	0.01	-4.5684	17.3434	0.87303	0.0:1.0:0.0:0.0	.	558	Q86T24	KAISO_HUMAN	F	558	ENSP00000314153:S558F;ENSP00000450969:S558F	ENSP00000314153:S558F	S	+	2	0	ZBTB33;AC002086.1	119272971	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	1.831000	0.39141	2.308000	0.77769	0.513000	0.50165	TCT	ZBTB33	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	C	NM_006777		119388943	1	no_errors	ENST00000326624	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119388943	C	T	119388943	3	4	137	1	0	0	0	0	1	0	0	0	17566	913	32	1	1675	1	ZBTB33	23	119388943	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	14109825	119388943	35881617	194	22805										
LAMP2	3920	genome.wustl.edu	37	chrX	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agacacctataccttatcctGagtgatgttcagctgcagcc	8	12	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:119581704G>A	ENST00000200639.4	-	5	869	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000371335.4_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	245	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403																																																	0													205	169	181					X																	119581704		2203	4300	6503	SO:0001587	stop_gained	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.733C>T	X.37:g.119581704G>A	ENSP00000200639:p.Gln245*		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Nonsense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Q245*	ENST00000200639.4	37	c.733	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	g	37	6.198455	0.97367	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.92	2.85	0.33270	.	1.148760	0.06230	N	0.688518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.8324	5.98	0.19401	0.0773:0.2273:0.5683:0.1272	.	.	.	.	X	245;134;245;245;198	.	ENSP00000200639:Q245X	Q	-	1	0	LAMP2	119465732	1.000000	0.71417	0.855000	0.33649	0.991000	0.79684	1.756000	0.38390	0.611000	0.30052	0.597000	0.82753	CAG	LAMP2	-	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop		0.403	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	G			119581704	-1	no_errors	ENST00000434600	ensembl	human	known	70_37	nonsense	SNP	0.293	A	A	119581704	G	A	119581704	4	1	137	1	0	0	0	0	0	1	0	0	8638	1299	45	1	810	1	LAMP2	23	119581704	Nonsense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	192761	119581704	35688856	195	22806										
BCORL1	63035	genome.wustl.edu	37	chrX	129148261	129148261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	agctccgttcttacccgtatGcattttctgtggcccggcct	9	14	2	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:129148261G>A	ENST00000218147.7	+	4	1710	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	BCORL1_ENST00000540052.1_Missense_Mutation_p.A505T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A505T|BCORL1_ENST00000359304.2_Missense_Mutation_p.A505T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	505	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTACCCGTATGCATTTTCTGT	0.607																																																	0													122	135	131					X																	129148261		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1513G>A	X.37:g.129148261G>A	ENSP00000218147:p.Ala505Thr		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A505T	ENST00000218147.7	37	c.1513	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129714	0.06753	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.40225	1.04;1.41;1.04;1.04;1.48	5.8	4.93	0.64822	.	0.000000	0.36519	N	0.002547	T	0.17195	0.0413	N	0.03608	-0.345	0.28167	N	0.928724	B;B	0.29136	0.234;0.15	B;B	0.28465	0.09;0.012	T	0.16335	-1.0406	10	0.13853	T	0.58	-8.378	7.5853	0.27989	0.2403:0.0:0.7597:0.0	.	505;505	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	T	505;505;505;505;105	ENSP00000218147:A505T;ENSP00000307541:A505T;ENSP00000352253:A505T;ENSP00000437775:A505T;ENSP00000399483:A105T	ENSP00000218147:A505T	A	+	1	0	BCORL1	128975942	0.734000	0.28142	0.981000	0.43875	0.692000	0.40212	1.218000	0.32467	2.453000	0.82957	0.529000	0.55759	GCA	BCORL1	-	NULL		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946		129148261	1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	0.976	A	A	129148261	G	A	129148261	3	1	137	1	0	0	0	0	1	0	0	0	1388	1319	46	4	1523	4	BCORL1	23	129148261	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	9566557	129148261	26122299	196	22807										
BCORL1	63035	genome.wustl.edu	37	chrX	129148724	129148724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	cagcagcaaggccctcctctCcacagtcctgtctaggtctc	8	17	3	0			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:129148724C>A	ENST00000218147.7	+	4	2173	c.1976C>A	c.(1975-1977)tCc>tAc	p.S659Y	BCORL1_ENST00000540052.1_Missense_Mutation_p.S659Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.S659Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.S659Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	659					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCCTCCTCTCCACAGTCCTG	0.617																																																	0													94	78	84					X																	129148724		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1976C>A	X.37:g.129148724C>A	ENSP00000218147:p.Ser659Tyr		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S659Y	ENST00000218147.7	37	c.1976	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478004	0.44044	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.48201	0.84;1.2;0.82;0.84;1.27	5.38	5.38	0.77491	.	0.000000	0.36338	N	0.002658	T	0.53802	0.1819	N	0.14661	0.345	0.37416	D	0.913456	D;D	0.71674	0.998;0.996	D;P	0.70016	0.967;0.804	T	0.66035	-0.6023	10	0.87932	D	0	-16.6098	18.3045	0.90176	0.0:1.0:0.0:0.0	.	659;659	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Y	659;659;659;659;259	ENSP00000218147:S659Y;ENSP00000307541:S659Y;ENSP00000352253:S659Y;ENSP00000437775:S659Y;ENSP00000399483:S259Y	ENSP00000218147:S659Y	S	+	2	0	BCORL1	128976405	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.548000	0.53670	2.262000	0.75019	0.436000	0.28706	TCC	BCORL1	-	NULL		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129148724	1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129148724	C	A	129148724	3	1	137	1	0	0	0	0	1	0	0	0	1388	855	30	3	1986	3	BCORL1	23	129148724	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	463	129148724	26121836	197	22808										
FAM122B	159090	genome.wustl.edu	37	chrX	133922794	133922794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tggtgggtgaaggtgctggaGaaactggagtgaagtcaatt	17	3	1	3			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:133922794G>A	ENST00000370790.1	-	5	1272	c.344C>T	c.(343-345)tCt>tTt	p.S115F	FAM122B_ENST00000343004.5_Missense_Mutation_p.S134F|FAM122B_ENST00000298090.6_Missense_Mutation_p.S134F|FAM122B_ENST00000486347.1_Missense_Mutation_p.S115F|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	115										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AGGTGCTGGAGAAACTGGAGT	0.388																																																	0													90	80	83					X																	133922794		2203	4300	6503	SO:0001583	missense	159090			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.344C>T	X.37:g.133922794G>A	ENSP00000359826:p.Ser115Phe		A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.S134F	ENST00000370790.1	37	c.401	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531063	0.85706	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000486347	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	D	0.84433	0.5471	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.992;0.997;0.997;0.999	D	0.86851	0.2023	9	0.62326	D	0.03	.	17.4014	0.87460	0.0:0.0:1.0:0.0	.	81;134;62;115;115;134	B4DN12;G1UD80;Q7Z309-5;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;.;.;F122B_HUMAN;.	F	115;134;134;115	.	ENSP00000298090:S134F	S	-	2	0	FAM122B	133750460	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.048000	0.93830	2.322000	0.78497	0.523000	0.50628	TCT	FAM122B	-	NULL		0.388	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	G	NM_145284		133922794	-1	no_errors	ENST00000343004	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133922794	G	A	133922794	3	1	137	1	0	0	0	0	1	0	0	0	5435	942	33	1	496	1	FAM122B	23	133922794	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	4774070	133922794	21347766	198	22809										
SOX3	6658	genome.wustl.edu	37	chrX	139587210	139587210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tctcgcacctgatgagttctCtcgaacaggtcgcattcaca	8	13	3	2			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:139587210C>T	ENST00000370536.2	-	1	15	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	6					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GATGAGTTCTCTCGAACAGGT	0.627																																																	0													9	10	10					X																	139587210		2181	4245	6426	SO:0001583	missense	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.16G>A	X.37:g.139587210C>T	ENSP00000359567:p.Glu6Lys		P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E6K	ENST00000370536.2	37	c.16	CCDS14669.1	X	.	.	.	.	.	.	.	.	.	.	c	9.045	0.990555	0.18966	.	.	ENSG00000134595	ENST00000370536	D	0.97976	-4.64	3.01	2.12	0.27331	.	.	.	.	.	D	0.91922	0.7442	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	D	0.83831	0.0252	8	.	.	.	.	5.718	0.17970	0.0:0.8412:0.0:0.1588	.	6	P41225	SOX3_HUMAN	K	6	ENSP00000359567:E6K	.	E	-	1	0	SOX3	139414876	0.008000	0.16893	0.014000	0.15608	0.163000	0.22366	1.049000	0.30392	0.641000	0.30601	0.525000	0.51046	GAG	SOX3	-	NULL		0.627	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	C			139587210	-1	no_errors	ENST00000370536	ensembl	human	known	70_37	missense	SNP	0.184	T	T	139587210	C	T	139587210	3	4	137	1	0	0	0	0	1	0	0	0	14981	922	32	1	1328	1	SOX3	23	139587210	Missense_Mutation	SNP	C	TCGA-FU-A40J-01A-11D-A243-09	5664416	139587210	15683350	199	22810										
MAGEA6	4105	genome.wustl.edu	37	chrX	151870004	151870004	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tgagtgtgttagaggtgtttGaggggagggaagacagtatc	18	2	0	4			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:151870004G>C	ENST00000329342.5	+	3	919	c.694G>C	c.(694-696)Gag>Cag	p.E232Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	232	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E232Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGTTTGAGGGGAGGGA	0.537																																																	1	Substitution - Missense(1)	urinary_tract(1)											160	155	156					X																	151870004		2202	4300	6502	SO:0001583	missense	4105				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.694G>C	X.37:g.151870004G>C	ENSP00000329199:p.Glu232Gln		A8IF93|Q6NW44	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E232Q	ENST00000329342.5	37	c.694	CCDS14708.1	X	.	.	.	.	.	.	.	.	.	.	g	4.266	0.048376	0.08243	.	.	ENSG00000197172	ENST00000329342;ENST00000457643	T;T	0.05258	3.47;3.47	0.605	0.605	0.17553	.	.	.	.	.	T	0.06781	0.0173	L	0.38175	1.15	0.09310	N	1	B	0.19445	0.036	B	0.34346	0.18	T	0.45145	-0.9281	8	0.29301	T	0.29	.	.	.	.	.	232	P43360	MAGA6_HUMAN	Q	232	ENSP00000329199:E232Q;ENSP00000401806:E232Q	ENSP00000329199:E232Q	E	+	1	0	MAGEA6	151620660	0.000000	0.05858	0.012000	0.15200	0.165000	0.22458	-0.258000	0.08733	0.573000	0.29400	0.181000	0.17075	GAG	MAGEA6	-	pfam_MAGE,pfscan_MAGE		0.537	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	G	NM_005363		151870004	1	no_errors	ENST00000329342	ensembl	human	known	70_37	missense	SNP	0.012	C	C	151870004	G	C	151870004	3	2	137	1	0	0	0	0	1	0	0	0	9193	1291	45	1	696	1	MAGEA6	23	151870004	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	12282794	151870004	3400556	200	22811										
PLXNB3	5365	genome.wustl.edu	37	chrX	153039425	153039425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	tcaccctagacaacgtgcaaGtggacttcgccagtgccagt	10	13	1	1			TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:153039425G>T	ENST00000361971.5	+	20	3505	c.3391G>T	c.(3391-3393)Gtg>Ttg	p.V1131L	PLXNB3_ENST00000538776.1_Missense_Mutation_p.V784L|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V1154L|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V741L	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1131	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACGTGCAAGTGGACTTCGC	0.687																																																	0													47	48	47					X																	153039425		2201	4298	6499	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3391G>T	X.37:g.153039425G>T	ENSP00000355378:p.Val1131Leu		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1154L	ENST00000361971.5	37	c.3460	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472265	0.26423	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68025	5.28;5.24;4.66;-0.3	5.28	3.52	0.40303	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.123056	0.53938	D	0.000049	T	0.55673	0.1935	L	0.53249	1.67	0.09310	N	0.999998	B;B;B	0.30563	0.11;0.285;0.11	B;B;B	0.32928	0.042;0.155;0.109	T	0.41088	-0.9528	10	0.08837	T	0.75	.	8.4202	0.32696	0.19:0.0:0.81:0.0	.	784;1154;1131	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	L	1154;1131;784;741	ENSP00000442736:V1154L;ENSP00000355378:V1131L;ENSP00000445569:V784L;ENSP00000441919:V741L	ENSP00000355378:V1131L	V	+	1	0	PLXNB3	152692619	0.831000	0.29352	0.371000	0.25978	0.098000	0.18820	1.145000	0.31577	0.450000	0.26774	0.529000	0.55759	GTG	PLXNB3	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	G			153039425	1	no_errors	ENST00000538966	ensembl	human	known	70_37	missense	SNP	0.092	T	T	153039425	G	T	153039425	3	4	137	1	0	0	0	0	1	0	0	0	12149	1029	36	4	3583	4	PLXNB3	23	153039425	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	1169421	153039425	2231135	201	22812										
OPN1MW	728458	genome.wustl.edu	37	chrX	153492789	153492789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.400990099009901	81	2.51729511856367e-25	3.52751247327156	5.00819672131148	2.73781420765027	1	1	58	ttgccttctcctggatctggGctgctgtgtggacagccccg	13	13	2	0	rs139163406		TCGA-FU-A40J-01A-11D-A243-09	TCGA-FU-A40J-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	956cb80b-81d3-4f19-9b71-cb636dc91845	22622949-a302-41a5-be56-040320a61c74	g.chrX:153492789G>T	ENST00000369929.4	+	3	598	c.538G>T	c.(538-540)Gct>Tct	p.A180S	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	180					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGATCTGGGCTGCTGTGTG	0.567																																																	0													1	1	1					X																	153492789		575	867	1442	SO:0001583	missense	728458				CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"GPCR / Class A : Opsin receptors"	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.538G>T	X.37:g.153492789G>T	ENSP00000358945:p.Ala180Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A180S	ENST00000369929.4	37	c.538	CCDS35447.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.004|0.004	-2.252386|-2.252386	0.00268|0.00268	.|.	.|.	ENSG00000166160|ENSG00000166160	ENST00000369929|ENST00000430419	T|.	0.34667|.	1.35|.	2.65|2.65	0.698|0.698	0.18087|0.18087	.|.	0.388144|.	0.28349|.	N|.	0.015679|.	T|T	0.56891|0.56891	0.2016|0.2016	.|.	.|.	.|.	0.48236|0.48236	D|D	0.999611|0.999611	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47873|0.47873	-0.9083|-0.9083	7|4	0.22109|.	T|.	0.4|.	.|.	9.0731|9.0731	0.36504|0.36504	0.0:0.0:0.4436:0.5564|0.0:0.0:0.4436:0.5564	.|.	.|.	.|.	.|.	S|V	180|42	ENSP00000358945:A180S|.	ENSP00000358945:A180S|.	A|G	+|+	1|2	0|0	OPN1MW2|OPN1MW2	153145983|153145983	0.000000|0.000000	0.05858|0.05858	0.956000|0.956000	0.39512|0.39512	0.016000|0.016000	0.09150|0.09150	-3.673000|-3.673000	0.00397|0.00397	-0.164000|-0.164000	0.10927|0.10927	-1.182000|-1.182000	0.01712|0.01712	GCT|GGC	OPN1MW2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW2	HGNC	protein_coding	OTTHUMT00000061149.2	G	NM_001048181		153492789	1	no_errors	ENST00000369929	ensembl	human	known	70_37	missense	SNP	0.989	T	T	153492789	G	T	153492789	3	4	137	1	0	0	0	0	1	0	0	0	10902	1203	42	4	1667	4	OPN1MW	23	153492789	Missense_Mutation	SNP	G	TCGA-FU-A40J-01A-11D-A243-09	453364	153492789	1777771	202	22813										
ARID1A	8289	genome.wustl.edu	37	chr1	27057661	27057661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	agattcctccttatggacaaCaaggccccagcgggtatggt	11	11	0	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr1:27057661C>T	ENST00000324856.7	+	3	1740	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q457*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q74*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	457					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTATGGACAACAAGGCCCCAG	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													183	189	187					1																	27057661		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1369C>T	1.37:g.27057661C>T	ENSP00000320485:p.Gln457*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q457*	ENST00000324856.7	37	c.1369	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823299	0.90873	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	5.03	5.03	0.67393	.	0.055437	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.685	18.5443	0.91040	0.0:1.0:0.0:0.0	.	.	.	.	X	457;457;74;74	.	ENSP00000320485:Q457X	Q	+	1	0	ARID1A	26930248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.994000	0.76251	2.615000	0.88500	0.561000	0.74099	CAA	ARID1A	-	NULL		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057661	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27057661	C	T	27057661	4	4	138	1	0	0	0	0	0	1	0	0	913	479	17	4	1379	4	ARID1A	1	27057661	Nonsense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		27057661	222192960	1	22814										
DHX9	1660	genome.wustl.edu	37	chr1	182845266	182845266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	aattgaacgaaaaggaaactCcttttgaactcatcgaggct	8	8	1	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr1:182845266C>A	ENST00000367549.3	+	17	2007	c.1897C>A	c.(1897-1899)Cct>Act	p.P633T		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	633					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAAGGAAACTCCTTTTGAACT	0.398																																					Colon(69;210 1162 3697 13559 39565)												0													169	152	157					1																	182845266		1878	4100	5978	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1897C>A	1.37:g.182845266C>A	ENSP00000356520:p.Pro633Thr		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.P633T	ENST00000367549.3	37	c.1897	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786987	0.31593	.	.	ENSG00000135829	ENST00000367549	T	0.02525	4.26	5.64	4.73	0.59995	.	0.117513	0.64402	D	0.000015	T	0.03915	0.0110	L	0.47190	1.495	0.47994	D	0.999568	P	0.37548	0.599	B	0.35607	0.206	T	0.50215	-0.8854	10	0.49607	T	0.09	.	12.0087	0.53274	0.0:0.8559:0.0:0.1441	.	633	Q08211	DHX9_HUMAN	T	633	ENSP00000356520:P633T	ENSP00000356520:P633T	P	+	1	0	DHX9	181111889	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.702000	0.47102	1.517000	0.48917	0.558000	0.71614	CCT	DHX9	-	NULL		0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	C	NM_030588		182845266	1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	A	A	182845266	C	A	182845266	3	1	138	1	0	0	0	0	1	0	0	0	4526	855	30	3	1959	3	DHX9	1	182845266	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09	155787605	182845266	66405355	2	22815										
FSIP2	401024	genome.wustl.edu	37	chr2	186667594	186667594	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ggatgaaagtttcccaacatGaaattcgattttcaaaagag	8	6	1	3			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr2:186667594G>A	ENST00000424728.1	+	17	13561	c.13561G>A	c.(13561-13563)Gaa>Aaa	p.E4521K	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.E4610K|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4521										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCCCAACATGAAATTCGATT	0.328																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.13561G>A	2.37:g.186667594G>A	ENSP00000401306:p.Glu4521Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.E4610K	ENST00000424728.1	37	c.13828		2	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167183	0.21621	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.56103	0.48;0.49	5.27	3.5	0.40072	.	.	.	.	.	T	0.42131	0.1189	L	0.27053	0.805	0.27309	N	0.957372	.	.	.	.	.	.	T	0.30966	-0.9960	7	0.36615	T	0.2	.	8.4797	0.33034	0.1598:0.0:0.8402:0.0	.	.	.	.	K	4610;4521	ENSP00000344403:E4610K;ENSP00000401306:E4521K	ENSP00000344403:E4610K	E	+	1	0	FSIP2	186375839	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	2.356000	0.44116	0.815000	0.34398	-0.964000	0.02622	GAA	FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186667594	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186667594	G	A	186667594	3	1	138	1	0	0	0	0	1	0	0	0	6093	1291	45	1	13894	1	FSIP2	2	186667594	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09		186667594	56531779	3	22816										
DOCK3	1795	genome.wustl.edu	37	chr3	51265439	51265440	+	Frame_Shift_Del	DEL	TT	TT	-													0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	acaaaggggaaaagaaactcTttggctttgcattctcaacc							TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr3:51265439_51265440delTT	ENST00000266037.9	+	17	1590_1591	c.1567_1568delTT	c.(1567-1569)tttfs	p.F523fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	523	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAAGAAACTCTTTGGCTTTGCA	0.436																																																	0																																										SO:0001589	frameshift_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1567_1568delTT	3.37:g.51265439_51265440delTT	ENSP00000266037:p.Phe523fs		O15017	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.F523fs	ENST00000266037.9	37	c.1567_1568	CCDS46835.1	3																																																																																			DOCK3	-	NULL		0.436	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	TT	NM_004947		51265440	1	no_errors	ENST00000266037	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	51265440	TT	-	51265439	7	5	138	1	0	1	0	1	0	0	0	0	4698	1609	56	0	1633	0	DOCK3	3	51265439	Frame_Shift_Del	DEL	TT	TCGA-FU-A57G-01A-11D-A26G-09		51265439	146756991	4	22817										
DNAH12	201625	genome.wustl.edu	37	chr3	57456170	57456170	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	attacattaccagcaattacCgtttttctgatcgctgccac	5	12	1	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr3:57456170C>T	ENST00000351747.2	-	16	2285	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	snoU13_ENST00000459308.1_RNA|DNAH12_ENST00000389536.4_Splice_Site_p.R702Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	702	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CAGCAATTACCGTTTTTCTGA	0.259																																																	0													68	53	57					3																	57456170		692	1588	2280	SO:0001630	splice_region_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2105+1G>A	3.37:g.57456170C>T			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R702Q	ENST00000351747.2	37	c.2105		3	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945342	0.34377	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536	T;T;T	0.60299	0.2;0.2;3.66	4.36	4.36	0.52297	Dynein heavy chain, domain-2 (1);	0.000000	0.40469	U	0.001083	T	0.60508	0.2274	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.59467	-0.7449	9	.	.	.	.	17.0901	0.86619	0.0:1.0:0.0:0.0	.	702	Q6ZR08	DYH12_HUMAN	Q	702	ENSP00000295937:R702Q;ENSP00000418137:R702Q;ENSP00000374187:R702Q	.	R	-	2	0	DNAH12	57431210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.721000	0.61951	2.239000	0.73571	0.467000	0.42956	CGG	DNAH12	-	pfam_Dynein_heavy_dom-2		0.259	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		C	NM_178504	Missense_Mutation	57456170	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57456170	C	T	57456170	5	4	138	1	0	0	0	0	0	0	1	0	4610	666	23	2	7349	2	DNAH12	3	57456170	Splice_Site	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09	6190731	57456170	140566260	5	22818										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	tctctctgaaatcactgagcAggagaaagattttctatgga	9	7	4	4	rs397517201		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61	61	61					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546R	ENST00000263967.3	37	c.1637	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178936095	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178936095	A	G	178936095	3	3	138	1	0	0	0	0	1	0	0	0	11937	188	7	5	1671	5	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-FU-A57G-01A-11D-A26G-09	121479925	178936095	19086335	6	22819										
SPP1	6696	genome.wustl.edu	37	chr4	88904020	88904020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	atttcgtatttctcatgaatTagatagtgcatcttctgagg	8	6	3	3	rs45452992		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr4:88904020T>C	ENST00000395080.3	+	7	1044	c.917T>C	c.(916-918)tTa>tCa	p.L306S	SPP1_ENST00000360804.4_Missense_Mutation_p.L279S|SPP1_ENST00000237623.7_Missense_Mutation_p.L292S|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	306					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCTCATGAATTAGATAGTGCA	0.333																																																	0													58	64	62					4																	88904020		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.917T>C	4.37:g.88904020T>C	ENSP00000378517:p.Leu306Ser		B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.L306S	ENST00000395080.3	37	c.917	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022216	0.35701	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804	T;T;T	0.44881	0.91;0.91;0.91	5.8	2.03	0.26663	.	0.894418	0.09475	N	0.797184	T	0.31734	0.0806	L	0.31752	0.955	0.29982	N	0.817617	B;B;B;B;B	0.31413	0.322;0.322;0.322;0.17;0.211	B;B;B;B;B	0.32980	0.156;0.156;0.156;0.11;0.11	T	0.34725	-0.9817	10	0.54805	T	0.06	-2.9858	7.6009	0.28075	0.0:0.2501:0.0:0.7499	.	319;265;292;279;306	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	S	284;265;292;306;279	ENSP00000237623:L292S;ENSP00000378517:L306S;ENSP00000354042:L279S	ENSP00000237623:L292S	L	+	2	0	SPP1	89123044	0.979000	0.34478	0.979000	0.43373	0.827000	0.46813	1.423000	0.34837	0.468000	0.27243	0.523000	0.50628	TTA	SPP1	-	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin		0.333	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	T			88904020	1	no_errors	ENST00000395080	ensembl	human	known	70_37	missense	SNP	0.963	C	C	88904020	T	C	88904020	3	2	138	1	0	0	0	0	1	0	0	0	15116	1764	61	5	939	5	SPP1	4	88904020	Missense_Mutation	SNP	T	TCGA-FU-A57G-01A-11D-A26G-09		88904020	102250256	7	22820										
FBXW7	55294	genome.wustl.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	47	Substitution - Missense(46)|Unknown(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)											85	80	82					4																	153247366		2203	4299	6502	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R479Q	ENST00000281708.4	37	c.1436	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153247366	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153247366	C	T	153247366	3	4	138	1	0	0	0	0	1	0	0	0	5787	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09	64343346	153247366	37906910	8	22821										
HCN1	348980	genome.wustl.edu	37	chr5	45262787	45262787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ttgaggataattgatgggagCgattgcctgcaccatctccc	11	10	1	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:45262787C>T	ENST00000303230.4	-	8	1966	c.1909G>A	c.(1909-1911)Gct>Act	p.A637T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	637					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A637S(1)|p.A637T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGATGGGAGCGATTGCCTGC	0.483																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											177	158	164					5																	45262787		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1909G>A	5.37:g.45262787C>T	ENSP00000307342:p.Ala637Thr			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.A637T	ENST00000303230.4	37	c.1909	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	2.952	-0.216592	0.06101	.	.	ENSG00000164588	ENST00000303230	T	0.41758	0.99	5.91	3.12	0.35913	.	0.284783	0.29653	N	0.011551	T	0.27866	0.0686	L	0.27053	0.805	0.25682	N	0.985789	B	0.13145	0.007	B	0.06405	0.002	T	0.14924	-1.0455	10	0.32370	T	0.25	.	9.9165	0.41436	0.0:0.6591:0.271:0.0699	.	637	O60741	HCN1_HUMAN	T	637	ENSP00000307342:A637T	ENSP00000307342:A637T	A	-	1	0	HCN1	45298544	0.920000	0.31207	0.793000	0.32043	0.385000	0.30292	1.198000	0.32223	0.376000	0.24707	-0.140000	0.14226	GCT	HCN1	-	NULL		0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45262787	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	0.993	T	T	45262787	C	T	45262787	3	4	138	1	0	0	0	0	1	0	0	0	7016	768	27	2	767	2	HCN1	5	45262787	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		45262787	135652473	9	22822										
PCDHA11	56138	genome.wustl.edu	37	chr5	140250200	140250200	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ttgggcgaccgcgcgctgtcGagctacgtgtcggtgcacgc	16	13	0	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:140250200G>A	ENST00000398640.2	+	1	1512	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCTGTCGAGCTACGTGT	0.692																																																	0													61	67	65					5																	140250200		2203	4298	6501	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1512G>A	5.37:g.140250200G>A			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S504	ENST00000398640.2	37	c.1512	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140250200	1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140250200	G	A	140250200	2	1	138	1	0	0	0	0	0	0	0	1	11545	1045	37	1		1	PCDHA11	5	140250200	Silent	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	94987413	140250200	40665060	10	22823										
RBM27	54439	genome.wustl.edu	37	chr5	145603092	145603092	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	agaagaaattaaagaagaggTaatgcaaattttttctcctg	8	4	1	4			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:145603092T>A	ENST00000265271.5	+	3	469		c.e3+2		RBM27_ENST00000506502.1_Splice_Site	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27						mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAAGAGGTAATGCAAATT	0.368																																																	0													85	83	83					5																	145603092		1568	3581	5149	SO:0001630	splice_region_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.303+2T>A	5.37:g.145603092T>A			Q8IYW9	Splice_Site	SNP	-	e3+2	ENST00000265271.5	37	c.303+2	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369336	0.61624	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.192	0.81996	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM27	145583285	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	6.780000	0.75063	2.229000	0.72834	0.482000	0.46254	.	RBM27	-	-		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	T	XM_291128	Intron	145603092	1	no_errors	ENST00000265271	ensembl	human	known	70_37	splice_site	SNP	0.989	A	A	145603092	T	A	145603092	5	1	138	1	0	0	0	0	0	0	1	0	13157	1652	57	5	315	5	RBM27	5	145603092	Splice_Site	SNP	T	TCGA-FU-A57G-01A-11D-A26G-09	5352892	145603092	35312168	11	22824										
TTBK1	84630	genome.wustl.edu	37	chr6	43230717	43230717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	tggctgaggaggaggatttcGacagcaaagagtgggtcatc	16	6	1	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:43230717G>A	ENST00000259750.4	+	13	1698	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	TTBK1_ENST00000304139.5_Missense_Mutation_p.D488N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	539					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGAGGATTTCGACAGCAAAGA	0.642																																																	0													89	64	73					6																	43230717		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1615G>A	6.37:g.43230717G>A	ENSP00000259750:p.Asp539Asn		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.D539N	ENST00000259750.4	37	c.1615	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826411	0.90955	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.27402	1.67	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.52573	1.65	0.40219	D	0.977713	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	T	0.35773	-0.9775	10	0.87932	D	0	.	16.2562	0.82517	0.0:0.0:1.0:0.0	.	62;539	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	N	488;539;488	ENSP00000259750:D539N	ENSP00000259750:D539N	D	+	1	0	TTBK1	43338695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.580000	0.87095	0.555000	0.69702	GAC	TTBK1	-	NULL		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43230717	1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43230717	G	A	43230717	3	1	138	1	0	0	0	0	1	0	0	0	16707	1058	37	1	1661	1	TTBK1	6	43230717	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09		43230717	127884350	12	22825										
TDRD6	221400	genome.wustl.edu	37	chr6	46656384	46656384	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	cacgggtgcgtcctggacgtGctgctgctccatcgcctggt	14	14	0	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:46656384G>T	ENST00000316081.6	+	1	519	c.519G>T	c.(517-519)gtG>gtT	p.V173V	TDRD6_ENST00000544460.1_Silent_p.V173V|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	173					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTGGACGTGCTGCTGCTCC	0.687																																																	0													41	44	43					6																	46656384		2200	4292	6492	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.519G>T	6.37:g.46656384G>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.V173	ENST00000316081.6	37	c.519	CCDS34470.1	6																																																																																			TDRD6	-	NULL		0.687	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46656384	1	no_errors	ENST00000316081	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46656384	G	T	46656384	2	4	138	1	0	0	0	0	0	0	0	1	15764	1306	46	4		4	TDRD6	6	46656384	Silent	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	3425667	46656384	124458683	13	22826										
COL19A1	1310	genome.wustl.edu	37	chr6	70873240	70873240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ttttgtgttttacagggcttAatgggaagaactggacatcc	11	6	0	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:70873240A>C	ENST00000322773.4	+	36	2454	c.2352A>C	c.(2350-2352)ttA>ttC	p.L784F	COL19A1_ENST00000393344.1_Missense_Mutation_p.L406F	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	784	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACAGGGCTTAATGGGAAGAA	0.418																																																	0													85	74	78					6																	70873240		2203	4300	6503	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2352A>C	6.37:g.70873240A>C	ENSP00000316030:p.Leu784Phe		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L784F	ENST00000322773.4	37	c.2352	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617693	0.28801	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93659	-3.26;-3.26	6.06	-4.48	0.03515	.	0.669254	0.14384	N	0.322960	T	0.78935	0.4362	N	0.21194	0.64	0.09310	N	1	P	0.49696	0.927	P	0.52109	0.69	T	0.78204	-0.2295	10	0.12766	T	0.61	.	6.0673	0.19870	0.38:0.0957:0.4378:0.0865	.	784	Q14993	COJA1_HUMAN	F	784;406	ENSP00000316030:L784F;ENSP00000377013:L406F	ENSP00000316030:L784F	L	+	3	2	COL19A1	70929961	0.003000	0.15002	0.022000	0.16811	0.452000	0.32318	-0.018000	0.12568	-0.498000	0.06632	0.533000	0.62120	TTA	COL19A1	-	pfam_Collagen		0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	A			70873240	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	0.000	C	C	70873240	A	C	70873240	3	2	138	1	0	0	0	0	1	0	0	0	3681	359	13	5	2490	5	COL19A1	6	70873240	Missense_Mutation	SNP	A	TCGA-FU-A57G-01A-11D-A26G-09	24216856	70873240	100241827	14	22827										
TNRC18	84629	genome.wustl.edu	37	chr7	5360800	5360800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	cgtccttcagctcatccttgTcgatgatgcaggagcgaggg	13	11	2	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr7:5360800T>C	ENST00000430969.1	-	22	6812	c.6464A>G	c.(6463-6465)gAc>gGc	p.D2155G	TNRC18_ENST00000399537.4_Missense_Mutation_p.D2155G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2155							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCATCCTTGTCGATGATGCA	0.642																																																	0													20	17	18					7																	5360800		1542	3518	5060	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6464A>G	7.37:g.5360800T>C	ENSP00000395538:p.Asp2155Gly		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.D2155G	ENST00000430969.1	37	c.6464	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	t	12.23	1.876550	0.33162	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.41400	1.0;1.0	3.98	3.98	0.46160	.	.	.	.	.	T	0.46639	0.1403	L	0.34521	1.04	0.36831	D	0.886888	D	0.56968	0.978	P	0.57776	0.827	T	0.52305	-0.8593	9	0.38643	T	0.18	.	13.172	0.59604	0.0:0.0:0.0:1.0	.	2155	O15417	TNC18_HUMAN	G	2155	ENSP00000382452:D2155G;ENSP00000395538:D2155G	ENSP00000382452:D2155G	D	-	2	0	TNRC18	5327326	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.315000	0.78998	1.563000	0.49615	0.454000	0.30748	GAC	TNRC18	-	NULL		0.642	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		T			5360800	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5360800	T	C	5360800	3	2	138	1	0	0	0	0	1	0	0	0	16369	1667	58	5	2478	5	TNRC18	7	5360800	Missense_Mutation	SNP	T	TCGA-FU-A57G-01A-11D-A26G-09		5360800	153777863	15	22828										
NPC1L1	29881	genome.wustl.edu	37	chr7	44553224	44553224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	cagcccgcttctgctccagtGccagagccgggttaacgtca	11	15	2	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr7:44553224G>T	ENST00000289547.4	-	20	3957	c.3902C>A	c.(3901-3903)gCa>gAa	p.A1301E	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A1274E|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A1228E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1301					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCTCCAGTGCCAGAGCCGG	0.592																																																	0													62	65	64					7																	44553224		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3902C>A	7.37:g.44553224G>T	ENSP00000289547:p.Ala1301Glu		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.A1301E	ENST00000289547.4	37	c.3902	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	G	7.351	0.622904	0.14193	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93247	-3.07;-3.09;-3.19	3.49	-0.0793	0.13711	.	.	.	.	.	T	0.79828	0.4513	N	0.14661	0.345	0.22745	N	0.998788	B;B;P	0.34909	0.229;0.015;0.475	B;B;B	0.25759	0.063;0.014;0.063	T	0.71206	-0.4661	9	0.02654	T	1	-7.0606	6.7765	0.23622	0.6733:0.0:0.3267:0.0	.	1228;1274;1301	B7ZLE6;Q17RV5;D3DVK9	.;.;.	E	1301;1274;1228	ENSP00000289547:A1301E;ENSP00000370552:A1274E;ENSP00000438033:A1228E	ENSP00000289547:A1301E	A	-	2	0	NPC1L1	44519749	0.109000	0.22037	0.488000	0.27440	0.100000	0.18952	0.828000	0.27435	-0.019000	0.14055	-0.379000	0.06801	GCA	NPC1L1	-	NULL		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44553224	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	missense	SNP	0.903	T	T	44553224	G	T	44553224	3	4	138	1	0	0	0	0	1	0	0	0	10595	1319	46	4	181	4	NPC1L1	7	44553224	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	39192424	44553224	114585439	16	22829										
ZNF703	80139	genome.wustl.edu	37	chr8	37556105	37556105	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	gcggggggcctggccgtgccGtccctccccacagccggacc	15	19	0	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr8:37556105G>T	ENST00000331569.4	+	2	1915	c.1686G>T	c.(1684-1686)ccG>ccT	p.P562P		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	562					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			TGGCCGTGCCGTCCCTCCCCA	0.617																																																	0													30	28	29					8																	37556105		2203	4300	6503	SO:0001819	synonymous_variant	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1686G>T	8.37:g.37556105G>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.P562	ENST00000331569.4	37	c.1686	CCDS6094.1	8																																																																																			ZNF703	-	NULL		0.617	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	G	NM_025069		37556105	1	no_errors	ENST00000331569	ensembl	human	known	70_37	silent	SNP	0.925	T	T	37556105	G	T	37556105	2	4	138	1	0	0	0	0	0	0	0	1	18136	1132	40	2		2	ZNF703	8	37556105	Silent	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09		37556105	108807917	17	22830										
ZNF143	7702	genome.wustl.edu	37	chr11	9496112	9496112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ttgagcaggggacagtttgcGtctagaggatggtcaagcag	16	6	2	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr11:9496112G>T	ENST00000396602.2	+	5	424	c.305G>T	c.(304-306)cGt>cTt	p.R102L	ZNF143_ENST00000396604.1_Missense_Mutation_p.R101L|ZNF143_ENST00000396597.3_Missense_Mutation_p.R71L|ZNF143_ENST00000530463.1_Missense_Mutation_p.R101L|ZNF143_ENST00000299606.2_Intron	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	102					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GACAGTTTGCGTCTAGAGGAT	0.363																																																	0													162	142	149					11																	9496112		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.305G>T	11.37:g.9496112G>T	ENSP00000379847:p.Arg102Leu		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R102L	ENST00000396602.2	37	c.305	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582212	0.65992	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000534265;ENST00000412390	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.91;2.92;2.95;2.92;0.9;0.9;2.98;0.93;0.88;0.92;0.89	5.62	5.62	0.85841	.	0.153083	0.46442	D	0.000297	T	0.34774	0.0909	L	0.44542	1.39	0.80722	D	1	P;P;P	0.41748	0.761;0.649;0.649	B;B;B	0.35182	0.197;0.097;0.097	T	0.13098	-1.0522	10	0.12103	T	0.63	.	19.6576	0.95849	0.0:0.0:1.0:0.0	.	71;101;102	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	L	102;101;102;101;70;101;71;102;102;102;101	ENSP00000434638:R102L;ENSP00000379849:R101L;ENSP00000379847:R102L;ENSP00000432154:R101L;ENSP00000434922:R70L;ENSP00000433221:R101L;ENSP00000379843:R71L;ENSP00000409432:R102L;ENSP00000435881:R102L;ENSP00000433743:R102L;ENSP00000388628:R101L	ENSP00000379843:R71L	R	+	2	0	ZNF143	9452688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.651000	0.90000	0.650000	0.86243	CGT	ZNF143	-	NULL		0.363	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	G	NM_003442		9496112	1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9496112	G	T	9496112	3	4	138	1	0	0	0	0	1	0	0	0	17762	1145	40	2	319	2	ZNF143	11	9496112	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09		9496112	125510404	18	22831										
SCN3B	55800	genome.wustl.edu	37	chr11	123508894	123508894	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	tttggcatctctggacttacGcgttttcttgggctgcctct	10	11	3	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr11:123508894G>A	ENST00000392770.2	-	4	1386	c.584C>T	c.(583-585)gCg>gTg	p.A195V	SCN3B_ENST00000530277.1_Splice_Site_p.A195V|SCN3B_ENST00000299333.3_Splice_Site_p.A195V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	195			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGACTTACGCGTTTTCTTG	0.463																																																	0													134	109	117					11																	123508894		2202	4299	6501	SO:0001630	splice_region_variant	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.584+1C>T	11.37:g.123508894G>A			A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.A195V	ENST00000392770.2	37	c.584	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964428	0.53507	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277	D;D;D	0.96992	-4.2;-4.2;-4.2	5.7	5.7	0.88788	.	0.046988	0.85682	D	0.000000	D	0.90783	0.7106	L	0.31065	0.9	0.58432	D	0.999998	P	0.36874	0.572	B	0.21546	0.035	D	0.89556	0.3803	9	.	.	.	0.001	13.0828	0.59123	0.0729:0.0:0.9271:0.0	.	195	Q9NY72	SCN3B_HUMAN	V	195	ENSP00000376523:A195V;ENSP00000299333:A195V;ENSP00000432785:A195V	.	A	-	2	0	SCN3B	123014104	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.023000	0.49666	2.683000	0.91414	0.655000	0.94253	GCG	SCN3B	-	NULL		0.463	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	G	NM_018400	Missense_Mutation	123508894	-1	no_errors	ENST00000299333	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123508894	G	A	123508894	5	1	138	1	0	0	0	0	0	0	1	0	13949	1101	38	2	71	2	SCN3B	11	123508894	Splice_Site	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	114012782	123508894	11497622	19	22832										
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25398284	C	T	25398284	3	4	138	1	0	0	0	0	1	0	0	0	8458	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		25398284	108453611	20	22833										
PRPF40B	25766	genome.wustl.edu	37	chr12	50025307	50025307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	caatgcttccaccaatggggGcgccaccaccactcacacag	8	17	1	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr12:50025307G>T	ENST00000380281.1	+	2	206	c.142G>T	c.(142-144)Gcg>Tcg	p.A48S	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70S|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACCAATGGGGGCGCCACCACC	0.607																																																	0													64	69	67					12																	50025307		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.142G>T	12.37:g.50025307G>T	ENSP00000369634:p.Ala48Ser		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.A48S	ENST00000380281.1	37	c.142		12	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807719	0.50421	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.24538	1.89;1.85;1.86	5.41	5.41	0.78517	.	0.107089	0.39341	N	0.001388	T	0.19446	0.0467	N	0.22421	0.69	0.41921	D	0.990514	B;B;B	0.25272	0.075;0.122;0.122	B;B;B	0.25405	0.027;0.06;0.06	T	0.05920	-1.0856	9	.	.	.	-11.7007	17.0575	0.86539	0.0:0.0:1.0:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	S	70;42;48	ENSP00000448073:A70S;ENSP00000261897:A42S;ENSP00000369634:A48S	.	A	+	1	0	PRPF40B	48311574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.498000	0.66931	2.699000	0.92147	0.655000	0.94253	GCG	PRPF40B	-	NULL		0.607	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50025307	1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50025307	G	T	50025307	3	4	138	1	0	0	0	0	1	0	0	0	12599	1203	42	4	148	4	PRPF40B	12	50025307	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	24627023	50025307	83826588	21	22834										
ING1	3621	genome.wustl.edu	37	chr13	111371896	111371896	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	acagcaagcgctcacggcggCagcgcaacaacgagaaccgt	12	14	1	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr13:111371896C>T	ENST00000375774.3	+	2	1348	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	ING1_ENST00000375775.3_Nonsense_Mutation_p.Q84*|ING1_ENST00000333219.7_Nonsense_Mutation_p.Q153*|ING1_ENST00000338450.7_Nonsense_Mutation_p.Q109*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	296					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCACGGCGGCAGCGCAACAA	0.667																																																	0													37	33	34					13																	111371896		2201	4296	6497	SO:0001587	stop_gained	3621				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.886C>T	13.37:g.111371896C>T	ENSP00000364929:p.Gln296*		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q296*	ENST00000375774.3	37	c.886	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130742	0.77549	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-55.3522	19.0766	0.93165	0.0:1.0:0.0:0.0	.	.	.	.	X	109;153;84;296	.	ENSP00000328436:Q153X	Q	+	1	0	ING1	110169897	1.000000	0.71417	0.982000	0.44146	0.315000	0.28087	7.290000	0.78711	2.506000	0.84524	0.491000	0.48974	CAG	ING1	-	NULL		0.667	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	C	NM_005537		111371896	1	no_errors	ENST00000375774	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	111371896	C	T	111371896	4	4	138	1	0	0	0	0	0	1	0	0	7755	711	25	4	1040	4	ING1	13	111371896	Nonsense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		111371896	3797982	22	22835										
PARP2	10038	genome.wustl.edu	37	chr14	20815064	20815064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	atgatgtctatgatgtcatgCtaaatcaggtaagaggcaag	11	5	3	3			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr14:20815064C>T	ENST00000250416.5	+	4	382	c.355C>T	c.(355-357)Cta>Tta	p.L119L	PARP2_ENST00000429687.3_Silent_p.L106L|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000527915.1_Silent_p.L119L	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	119					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGATGTCATGCTAAATCAGGT	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													180	173	176					14																	20815064		1882	4125	6007	SO:0001819	synonymous_variant	10038			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.355C>T	14.37:g.20815064C>T			Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L119	ENST00000250416.5	37	c.355	CCDS41910.1	14																																																																																			PARP2	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain		0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	C			20815064	1	no_errors	ENST00000250416	ensembl	human	known	70_37	silent	SNP	0.990	T	T	20815064	C	T	20815064	2	4	138	1	0	0	0	0	0	0	0	1	11485	796	28	4		4	PARP2	14	20815064	Silent	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		20815064	86534476	23	22836										
CYP11A1	1583	genome.wustl.edu	37	chr15	74631051	74631051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	gggttgggtcaaaattttccGggtcgaagaagaaggtgggc	17	5	1	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:74631051G>A	ENST00000268053.6	-	8	1449	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	CYP11A1_ENST00000358632.4_Missense_Mutation_p.P274L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.P274L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	432					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AAAATTTTCCGGGTCGAAGAA	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													117	113	114					15																	74631051		2197	4297	6494	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1295C>T	15.37:g.74631051G>A	ENSP00000268053:p.Pro432Leu		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P432L	ENST00000268053.6	37	c.1295	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386218	0.61956	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	D;D;D	0.87412	-2.25;-2.25;-2.25	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95762	0.8801	10	0.87932	D	0	-10.0663	18.2052	0.89852	0.0:0.0:1.0:0.0	.	402;432	B4DTE5;P05108	.;CP11A_HUMAN	L	432;274;274;197	ENSP00000268053:P432L;ENSP00000351455:P274L;ENSP00000405488:P274L	ENSP00000268053:P432L	P	-	2	0	CYP11A1	72418104	1.000000	0.71417	0.092000	0.20876	0.072000	0.16883	9.145000	0.94634	2.393000	0.81446	0.549000	0.68633	CCG	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	G			74631051	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	missense	SNP	0.997	A	A	74631051	G	A	74631051	3	1	138	1	0	0	0	0	1	0	0	0	4149	1116	39	2	278	2	CYP11A1	15	74631051	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09		74631051	27900341	24	22837										
ACSM2B	348158	genome.wustl.edu	37	chr16	20559410	20559410	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	tgtctggccatagaattctcGgatgtccagtcctgtctggg	12	10	3	1	rs201804117		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr16:20559410G>A	ENST00000329697.6	-	8	1240	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R358*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R279*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R358*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	358					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TAGAATTCTCGGATGTCCAGT	0.507													g|||	1	0.000199681	0	0	5008	,	,		17774	0		0.001	False		,,,				2504	0																0								G	stop/ARG,stop/ARG	3,4399	6.2+/-15.9	0,3,2198	152	156	155		1072,1072	2.1	1	16		155	0,8600		0,0,4300	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,3,6498	AA,AG,GG		0.0,0.0682,0.0231	,	358/578,358/578	20559410	3,12999	2201	4300	6501	SO:0001587	stop_gained	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1072C>T	16.37:g.20559410G>A	ENSP00000327453:p.Arg358*		Q86YT1	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R358*	ENST00000329697.6	37	c.1072	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.031464	0.98619	6.82E-4	0.0	ENSG00000066813	ENST00000329697	.	.	.	3.23	2.14	0.27477	.	0.479232	0.15600	N	0.253977	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.4532	3.944	0.09339	0.2132:0.0:0.5871:0.1997	.	.	.	.	X	358	.	ENSP00000327453:R358X	R	-	1	2	ACSM2B	20466911	0.001000	0.12720	0.999000	0.59377	0.926000	0.56050	-0.183000	0.09712	1.809000	0.52856	0.609000	0.83330	CGA	ACSM2B	-	pfam_AMP-dep_Synth/Lig		0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	G	NM_182617		20559410	-1	no_errors	ENST00000329697	ensembl	human	known	70_37	nonsense	SNP	0.963	A	A	20559410	G	A	20559410	4	1	138	1	0	0	0	0	0	1	0	0	184	1124	39	2	689	2	ACSM2B	16	20559410	Nonsense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09		20559410	69795343	25	22838										
PTPRS	5802	genome.wustl.edu	37	chr19	5244287	5244287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	gacggccgacacccagatctCgtactccgagttggggctca	12	14	2	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:5244287C>T	ENST00000587303.1	-	10	1294	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PTPRS_ENST00000348075.2_Missense_Mutation_p.E386K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E386K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E400K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E386K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E399K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E395K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E386K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	399	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ACCCAGATCTCGTACTCCGAG	0.637																																																	0													66	56	59					19																	5244287		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1195G>A	19.37:g.5244287C>T	ENSP00000467537:p.Glu399Lys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.E400K	ENST00000587303.1	37	c.1198	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030517	0.93575	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.082681	0.47455	U	0.000237	T	0.71341	0.3328	M	0.79011	2.435	0.34361	D	0.690993	P;P;P;D;D;P	0.89917	0.718;0.605;0.74;1.0;1.0;0.92	B;B;B;D;D;B	0.81914	0.294;0.145;0.228;0.953;0.995;0.435	T	0.79217	-0.1894	10	0.33940	T	0.23	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	399;386;390;386;399;412	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	412;400;399;399;399;395;386;399;390;386	ENSP00000361489:E400K;ENSP00000349932:E399K;ENSP00000262963:E395K;ENSP00000269907:E386K;ENSP00000327313:E386K	ENSP00000262963:E395K	E	-	1	0	PTPRS	5195287	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	C			5244287	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5244287	C	T	5244287	3	4	138	1	0	0	0	0	1	0	0	0	12841	893	31	1	4763	1	PTPRS	19	5244287	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		5244287	53884696	26	22839										
ARMC6	93436	genome.wustl.edu	37	chr19	19166718	19166718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	gcaggccatgaaggcacaccCgcagaaggccggcgtgcagg	16	13	0	2			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:19166718C>T	ENST00000535612.1	+	8	1706	c.1274C>T	c.(1273-1275)cCg>cTg	p.P425L	ARMC6_ENST00000392335.2_Missense_Mutation_p.P400L|ARMC6_ENST00000269932.6_Missense_Mutation_p.P400L|ARMC6_ENST00000392336.3_Missense_Mutation_p.P425L|ARMC6_ENST00000546344.1_Missense_Mutation_p.P332L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	425					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AAGGCACACCCGCAGAAGGCC	0.692																																																	0																																										SO:0001583	missense	93436			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1274C>T	19.37:g.19166718C>T	ENSP00000444156:p.Pro425Leu		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P425L	ENST00000535612.1	37	c.1274	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346191	0.41599	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.24	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.280434	0.40302	N	0.001126	T	0.51736	0.1692	M	0.77103	2.36	0.80722	D	1	D	0.60575	0.988	B	0.44044	0.439	T	0.59979	-0.7352	10	0.54805	T	0.06	-19.7592	13.0617	0.59010	0.0:0.9219:0.0:0.0781	.	425	Q6NXE6	ARMC6_HUMAN	L	400;425;400;332;336;425	ENSP00000376147:P400L;ENSP00000444156:P425L;ENSP00000269932:P400L;ENSP00000444341:P332L;ENSP00000376148:P425L	ENSP00000269932:P400L	P	+	2	0	ARMC6	19027718	0.998000	0.40836	0.766000	0.31476	0.005000	0.04900	5.564000	0.67359	1.214000	0.43395	-0.157000	0.13467	CCG	ARMC6	-	superfamily_ARM-type_fold,smart_Armadillo		0.692	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	C	NM_033415		19166718	1	no_errors	ENST00000392336	ensembl	human	known	70_37	missense	SNP	0.993	T	T	19166718	C	T	19166718	3	4	138	1	0	0	0	0	1	0	0	0	956	652	23	2	1221	2	ARMC6	19	19166718	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09	13922431	19166718	39962265	27	22840										
ZNF681	148213	genome.wustl.edu	37	chr19	23926852	23926852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ttgtaggatttctctccagtAtgaattctcttatgtgtagt	8	6	2	1	rs375345647		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:23926852A>G	ENST00000402377.3	-	4	1641	c.1500T>C	c.(1498-1500)caT>caC	p.H500H	ZNF681_ENST00000395385.3_Silent_p.H431H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCTCCAGTATGAATTCTCT	0.363																																																	0								A		0,4380		0,0,2190	49	54	53		1500	0.3	0.2	19		53	2,8578		0,2,4288	no	coding-synonymous	ZNF681	NM_138286.2		0,2,6478	GG,GA,AA		0.0233,0.0,0.0154		500/646	23926852	2,12958	2190	4290	6480	SO:0001819	synonymous_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1500T>C	19.37:g.23926852A>G			B3KVF7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H500	ENST00000402377.3	37	c.1500	CCDS12414.2	19																																																																																			ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	A	NM_138286		23926852	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	silent	SNP	1.000	G	G	23926852	A	G	23926852	2	3	138	1	0	0	0	0	0	0	0	1	18118	446	16	5		5	ZNF681	19	23926852	Silent	SNP	A	TCGA-FU-A57G-01A-11D-A26G-09	4760134	23926852	35202131	28	22841										
CYP2F1	1572	genome.wustl.edu	37	chr19	41630665	41630665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	acctcgtggtgggacgcgcgCggctgccggcgctgaaggac	18	13	0	1	rs376080668		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:41630665C>T	ENST00000331105.2	+	8	1078	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	336					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACGCGCGCGGCTGCCGGC	0.677																																																	0								C	TRP/ARG	1,4383		0,1,2191	16	17	17		1006	0.6	1	19		17	0,8564		0,0,4282	no	missense	CYP2F1	NM_000774.3	101	0,1,6473	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	336/492	41630665	1,12947	2192	4282	6474	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1006C>T	19.37:g.41630665C>T	ENSP00000333534:p.Arg336Trp		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R336W	ENST00000331105.2	37	c.1006	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	c	11.23	1.577960	0.28180	2.28E-4	0.0	ENSG00000197446	ENST00000331105	T	0.71698	-0.59	3.13	0.644	0.17776	.	0.141587	0.45126	U	0.000381	T	0.73361	0.3577	H	0.98111	4.15	0.44454	D	0.997382	P	0.37207	0.587	B	0.26864	0.074	T	0.73997	-0.3806	10	0.87932	D	0	.	5.4873	0.16757	0.1931:0.6878:0.0:0.1191	.	336	P24903	CP2F1_HUMAN	W	336	ENSP00000333534:R336W	ENSP00000333534:R336W	R	+	1	2	CYP2F1	46322505	0.003000	0.15002	0.964000	0.40570	0.289000	0.27227	0.073000	0.14640	0.541000	0.28827	0.089000	0.15464	CGG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.677	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	C			41630665	1	no_errors	ENST00000331105	ensembl	human	known	70_37	missense	SNP	0.951	T	T	41630665	C	T	41630665	3	4	138	1	0	0	0	0	1	0	0	0	4176	759	27	2	1032	2	CYP2F1	19	41630665	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09	17703813	41630665	17498318	29	22842										
AKT1S1	84335	genome.wustl.edu	37	chr19	50376308	50376308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	gactgggtggctgtggtgctGgtgggggcgcaggaggccga	23	7	0	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:50376308G>T	ENST00000391833.1	-	1	2234	c.245C>A	c.(244-246)cCa>cAa	p.P82Q	AKT1S1_ENST00000391832.3_Missense_Mutation_p.P82Q|AKT1S1_ENST00000344175.5_Missense_Mutation_p.P82Q|AKT1S1_ENST00000391835.1_Missense_Mutation_p.P102Q|AKT1S1_ENST00000391834.2_Missense_Mutation_p.P82Q|AKT1S1_ENST00000391831.1_Missense_Mutation_p.P82Q	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGTGGTGCTGGTGGGGGCGC	0.697																																																	0													28	21	23					19																	50376308		2165	4222	6387	SO:0001583	missense	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.245C>A	19.37:g.50376308G>T	ENSP00000375709:p.Pro82Gln			Missense_Mutation	SNP	NULL	p.P82Q	ENST00000391833.1	37	c.245	CCDS12784.1	19	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940334	0.52972	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831;ENST00000391830	T;T;T;T;T;T;T	0.62639	0.21;0.21;0.21;0.21;0.2;0.21;0.01	4.26	4.26	0.50523	.	0.392200	0.25900	N	0.027568	T	0.65729	0.2719	L	0.38175	1.15	0.39065	D	0.960597	D	0.69078	0.997	P	0.60949	0.881	T	0.63875	-0.6538	10	0.25751	T	0.34	-10.0137	14.195	0.65664	0.0:0.0:1.0:0.0	.	82	Q96B36	AKTS1_HUMAN	Q	82;82;82;82;102;82;82	ENSP00000375709:P82Q;ENSP00000341698:P82Q;ENSP00000375708:P82Q;ENSP00000375710:P82Q;ENSP00000375711:P102Q;ENSP00000375707:P82Q;ENSP00000375706:P82Q	ENSP00000341698:P82Q	P	-	2	0	AKT1S1	55068120	0.991000	0.36638	0.745000	0.31077	0.371000	0.29859	3.245000	0.51407	2.217000	0.71921	0.561000	0.74099	CCA	AKT1S1	-	NULL		0.697	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1	G	NM_032375		50376308	-1	no_errors	ENST00000344175	ensembl	human	known	70_37	missense	SNP	0.982	T	T	50376308	G	T	50376308	3	4	138	1	0	0	0	0	1	0	0	0	479	1348	47	4	541	4	AKT1S1	19	50376308	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	8745643	50376308	8752675	30	22843										
PRIC285	85441	genome.wustl.edu	37	chr20	62192477	62192477	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	accagggggatgagggtttcAggttccgtggccatgcctgc	16	10	1	1			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr20:62192477A>C	ENST00000467148.1	-	14	7173	c.7104T>G	c.(7102-7104)ccT>ccG	p.P2368P	HELZ2_ENST00000427522.2_Silent_p.P1799P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2368	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGAGGGTTTCAGGTTCCGTGG	0.632																																																	0													71	68	69					20																	62192477		2202	4300	6502	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7104T>G	20.37:g.62192477A>C			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.P2368	ENST00000467148.1	37	c.7104	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	A	NM_001037335		62192477	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.508	C	C	62192477	A	C	62192477	2	2	138	1	0	0	0	0	0	0	0	1	12512	175	7	5		5	PRIC285	20	62192477	Silent	SNP	A	TCGA-FU-A57G-01A-11D-A26G-09		62192477	833043	31	22844										
BCORL1	63035	genome.wustl.edu	37	chrX	129148350	129148350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	tgcacttccccatccggtagCaccaccacccagcctgcacc	6	21	0	0			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:129148350C>T	ENST00000218147.7	+	4	1799	c.1602C>T	c.(1600-1602)agC>agT	p.S534S	BCORL1_ENST00000540052.1_Silent_p.S534S|BCORL1_ENST00000303743.5_Silent_p.S534S|BCORL1_ENST00000359304.2_Silent_p.S534S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	534	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCCGGTAGCACCACCACCC	0.592																																																	0													107	121	116					X																	129148350		2203	4300	6503	SO:0001819	synonymous_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1602C>T	X.37:g.129148350C>T			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S534	ENST00000218147.7	37	c.1602	CCDS14616.1	X																																																																																			BCORL1	-	NULL		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129148350	1	no_errors	ENST00000303743	ensembl	human	known	70_37	silent	SNP	0.000	T	T	129148350	C	T	129148350	2	4	138	1	0	0	0	0	0	0	0	1	1388	709	25	4		4	BCORL1	23	129148350	Silent	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09		129148350	26122210	32	22845										
SPANXN2	494119	genome.wustl.edu	37	chrX	142795145	142795145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	ccatgtttgactagtcctccCcaccctcctgtgaagatcct	6	16	0	3			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:142795145C>A	ENST00000370498.1	-	2	1286	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	178										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGTCCTCCCCACCCTCCTG	0.473																																																	0													219	193	202					X																	142795145		2203	4300	6503	SO:0001583	missense	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.533G>T	X.37:g.142795145C>A	ENSP00000359529:p.Gly178Val		Q0ZNM2	Missense_Mutation	SNP	pfam_SPANX_prot	p.G178V	ENST00000370498.1	37	c.533	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.404899	0.01155	.	.	ENSG00000203924	ENST00000370498	T	0.08896	3.04	0.528	-1.06	0.10002	.	.	.	.	.	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	P	0.42757	0.789	B	0.23852	0.049	T	0.29243	-1.0018	8	0.44086	T	0.13	.	.	.	.	.	178	Q5MJ10	SPXN2_HUMAN	V	178	ENSP00000359529:G178V	ENSP00000359529:G178V	G	-	2	0	SPANXN2	142622811	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.976000	0.01497	-3.055000	0.00258	-2.276000	0.00273	GGG	SPANXN2	-	NULL		0.473	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	C	NM_001009615		142795145	-1	no_errors	ENST00000370498	ensembl	human	known	70_37	missense	SNP	0.016	A	A	142795145	C	A	142795145	3	1	138	1	0	0	0	0	1	0	0	0	15021	623	22	4	13	4	SPANXN2	23	142795145	Missense_Mutation	SNP	C	TCGA-FU-A57G-01A-11D-A26G-09	13646795	142795145	12475415	33	22846										
FLNA	2316	genome.wustl.edu	37	chrX	153581709	153581709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	cagcaaacagggctcctcccGgcccgagggcgggaccacag	14	16	0	0	rs371616686		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:153581709G>A	ENST00000369850.3	-	37	6213	c.5977C>T	c.(5977-5979)Cgg>Tgg	p.R1993W	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.R126W|FLNA_ENST00000360319.4_Missense_Mutation_p.R1985W|FLNA_ENST00000344736.4_Missense_Mutation_p.R1953W|FLNA_ENST00000422373.1_Missense_Mutation_p.R1985W	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1993					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTCCTCCCGGCCCGAGGGC	0.632																																																	0								G	TRP/ARG,TRP/ARG	0,3556		0,0,1493,570	55	62	60		5977,5953	1.9	0.1	X		60	1,6542		0,1,2370,1801	no	missense,missense	FLNA	NM_001110556.1,NM_001456.3	101,101	0,1,3863,2371	AA,AG,GG,G		0.0153,0.0,0.0099	probably-damaging,probably-damaging	1993/2648,1985/2640	153581709	1,10098	2063	4172	6235	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5977C>T	X.37:g.153581709G>A	ENSP00000358866:p.Arg1993Trp		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1993W	ENST00000369850.3	37	c.5977	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	5.780	0.328258	0.10956	0.0	1.53E-4	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-1.99;-2.15	5.69	1.92	0.25849	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.073236	0.52532	D	0.000064	D	0.89928	0.6857	M	0.64404	1.975	0.50813	D	0.999898	B;D;D;D	0.76494	0.061;0.999;0.985;0.985	B;D;P;P	0.75484	0.045;0.986;0.651;0.651	D	0.86473	0.1786	10	0.62326	D	0.03	.	6.1229	0.20164	0.137:0.0:0.4863:0.3767	.	126;1985;1993;1993	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	W	1985;1985;1993;126;1953	ENSP00000353467:R1985W;ENSP00000416926:R1985W;ENSP00000358866:R1993W;ENSP00000358872:R126W;ENSP00000358863:R1953W	ENSP00000358863:R1953W	R	-	1	2	FLNA	153234903	0.003000	0.15002	0.108000	0.21378	0.043000	0.13939	1.104000	0.31074	-0.043000	0.13513	-0.494000	0.04653	CGG	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153581709	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	0.971	A	A	153581709	G	A	153581709	3	1	138	1	0	0	0	0	1	0	0	0	5951	1115	39	2	2014	2	FLNA	23	153581709	Missense_Mutation	SNP	G	TCGA-FU-A57G-01A-11D-A26G-09	10786564	153581709	1688851	34	22847										
F8	2157	genome.wustl.edu	37	chrX	154132217	154132218	+	Frame_Shift_Ins	INS	-	-	T													0.0285714285714286	1	0.958130691298902	0.492063492063492	NA	0.492063492063492	1	1	0	agtgccattttatactcctcINStttttttcgtacagtgaaca					rs387906460		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:154132217_154132218insT	ENST00000360256.4	-	18	6161_6162	c.5961_5962insA	c.(5959-5964)aaagagfs	p.E1988fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1988	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTATACTCCTCTTTTTTTCGTA	0.386																																																	0			GRCh37	CD062157|CD961984|CI983097	F8	D|I																																				SO:0001589	frameshift_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5962dupA	X.37:g.154132224_154132224dupT	ENSP00000353393:p.Glu1988fs		Q14286|Q5HY69	Frame_Shift_Ins	INS	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1987fs	ENST00000360256.4	37	c.5962_5961	CCDS35457.1	X																																																																																			F8	-	pfam_Cu-oxidase_2,superfamily_Cupredoxin		0.386	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-			154132218	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	frame_shift_ins	INS	0.019:0.005	T	T	154132218	-	T	154132217	7	5	138	1	0	1	1	0	0	0	0	0	5362	922	32	0	1157	0	F8	23	154132217	Frame_Shift_Ins	INS	-	TCGA-FU-A57G-01A-11D-A26G-09	550508	154132217	1138343	35	22848										
PRDM16	63976	genome.wustl.edu	37	chr1	3328829	3328829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgactgcaacgggcgccgccGgggactccatcaaggccatc	13	15	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:3328829G>A	ENST00000270722.5	+	9	2117	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	PRDM16_ENST00000441472.2_Missense_Mutation_p.G690R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G691R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G690R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G691R|PRDM16_ENST00000378391.2_Missense_Mutation_p.G690R|PRDM16_ENST00000378398.3_Missense_Mutation_p.G691R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	690	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCGCCGCCGGGGACTCCAT	0.642			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													53	64	60					1																	3328829		2020	4166	6186	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2068G>A	1.37:g.3328829G>A	ENSP00000270722:p.Gly690Arg		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G690R	ENST00000270722.5	37	c.2068	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312573	0.23908	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05319	3.48;3.5;3.51;3.51;3.5;3.5;3.51;3.47;3.46	4.73	2.7	0.31948	.	0.251599	0.25302	N	0.031658	T	0.04452	0.0122	L	0.36672	1.1	0.25899	N	0.983376	D;P;P;P	0.56035	0.974;0.951;0.792;0.918	B;B;B;B	0.39904	0.241;0.313;0.281;0.166	T	0.37934	-0.9684	10	0.42905	T	0.14	.	4.2689	0.10776	0.4548:0.0:0.5452:0.0	.	690;690;690;690	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	R	691;691;690;690;690;691;690;506;506;499	ENSP00000426975:G691R;ENSP00000367651:G691R;ENSP00000407968:G690R;ENSP00000405253:G690R;ENSP00000367643:G690R;ENSP00000421400:G691R;ENSP00000270722:G690R;ENSP00000422504:G506R;ENSP00000425796:G499R	ENSP00000270722:G690R	G	+	1	0	PRDM16	3318689	1.000000	0.71417	0.678000	0.29963	0.081000	0.17604	6.098000	0.71458	1.224000	0.43551	-0.199000	0.12753	GGG	PRDM16	-	NULL		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3328829	1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	0.776	A	A	3328829	G	A	3328829	3	1	139	1	0	0	0	0	1	0	0	0	12484	1116	39	2	2102	2	PRDM16	1	3328829	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		3328829	245921792	1	22849										
KIF1B	23095	genome.wustl.edu	37	chr1	10384953	10384953	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctggttcaaacttgtggggaGgtatgtgatgattttgttga	14	3	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:10384953G>T	ENST00000377086.1	+	26	2877	c.2675G>T	c.(2674-2676)aGc>aTc	p.S892I	KIF1B_ENST00000263934.6_Splice_Site_p.S846I|KIF1B_ENST00000377081.1_Splice_Site_p.S892I			O60333	KIF1B_HUMAN	kinesin family member 1B	892					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGTGGGGAGGTATGTGATG	0.398																																																	0													166	157	160					1																	10384953		2203	4300	6503	SO:0001630	splice_region_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2675+1G>T	1.37:g.10384953G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S846I	ENST00000377086.1	37	c.2537		1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709174	0.68615	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.78246	-1.16;-1.16;-1.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	N	0.08118	0	0.80722	D	1	B;B;D;D;D;D	0.69078	0.258;0.111;0.997;0.986;0.996;0.994	B;B;D;P;D;P	0.83275	0.159;0.081;0.996;0.673;0.985;0.808	T	0.79874	-0.1619	10	0.34782	T	0.22	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	878;852;892;866;892;846	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	892;846;892;892	ENSP00000263934:S846I;ENSP00000366290:S892I;ENSP00000366284:S892I	ENSP00000263934:S846I	S	+	2	0	KIF1B	10307540	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	AGC	KIF1B	-	pfam_KIF1B		0.398	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G		Missense_Mutation	10384953	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10384953	G	T	10384953	5	4	139	1	0	0	0	0	0	0	1	0	8304	1014	35	4	4116	4	KIF1B	1	10384953	Splice_Site	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	7056124	10384953	238865668	2	22850										
RHD	6007	genome.wustl.edu	37	chr1	25633204	25633204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgctggtgcttgataccgtcGgagccggcaatggcatgtgg	16	9	0	1	rs200307239		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:25633204G>A	ENST00000328664.4	+	7	1212	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	RHD_ENST00000417538.2_Intron|RHD_ENST00000568195.1_Missense_Mutation_p.G353R|RHD_ENST00000423253.1_Intron|RHD_ENST00000423810.2_Missense_Mutation_p.G353R|RHD_ENST00000342055.5_Missense_Mutation_p.G353R|RHD_ENST00000454452.2_Intron|RHD_ENST00000357542.4_Missense_Mutation_p.G353R	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	353						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.G353R(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGATACCGTCGGAGCCGGCAA	0.567																																																	1	Substitution - Missense(1)	breast(1)	GRCh37	CM973730	RHD	M							189	149	164					1																	25633204		2114	3745	5859	SO:0001583	missense	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.1057G>A	1.37:g.25633204G>A	ENSP00000331871:p.Gly353Arg		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.G353R	ENST00000328664.4	37	c.1057	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	g	10.74	1.435826	0.25813	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000342055;ENST00000357542;ENST00000423810	T;T;T;T	0.22336	1.96;2.14;2.21;2.19	2.48	-2.35	0.06684	Ammonium transporter AmtB-like (3);	0.488542	0.16450	N	0.213895	T	0.21841	0.0526	L	0.39245	1.2	0.09310	N	1	B;P;D;B;B;B	0.76494	0.06;0.916;0.999;0.004;0.063;0.002	B;P;D;B;B;B	0.63793	0.011;0.47;0.918;0.0;0.022;0.003	T	0.15694	-1.0428	10	0.21014	T	0.42	1.8355	1.1113	0.01704	0.1877:0.1314:0.3831:0.2977	.	353;353;353;353;353;353	B4DLT8;Q5XLT1;Q5XLS9;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;RHD_HUMAN	R	353	ENSP00000331871:G353R;ENSP00000339577:G353R;ENSP00000350150:G353R;ENSP00000399640:G353R	ENSP00000331871:G353R	G	+	1	0	RHD	25505791	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.736000	0.04882	-1.229000	0.02564	-2.245000	0.00285	GGA	RHD	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like		0.567	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	G	NM_016124		25633204	1	no_errors	ENST00000328664	ensembl	human	known	70_37	missense	SNP	0.000	A	A	25633204	G	A	25633204	3	1	139	1	0	0	0	0	1	0	0	0	13357	1117	39	2	1083	2	RHD	1	25633204	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	15248251	25633204	223617417	3	22851										
FAF1	11124	genome.wustl.edu	37	chr1	51032844	51032844	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tcagcacaaagcatttgtgaGcagaacacgttggttaacac	9	9	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:51032844G>T	ENST00000396153.2	-	13	1624	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	FAF1_ENST00000545823.1_Nonsense_Mutation_p.C149*|FAF1_ENST00000371778.4_Nonsense_Mutation_p.C391*|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	391					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GCATTTGTGAGCAGAACACGT	0.383																																																	1	Whole gene deletion(1)	thyroid(1)											94	95	95					1																	51032844		2203	4299	6502	SO:0001587	stop_gained	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1173C>A	1.37:g.51032844G>T	ENSP00000379457:p.Cys391*		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Nonsense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.C391*	ENST00000396153.2	37	c.1173	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248430	0.59103	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1459	9.2503	0.37551	0.2715:0.0:0.7285:0.0	.	.	.	.	X	391;391;149;231;239	.	ENSP00000360843:C391X	C	-	3	2	FAF1	50805432	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.940000	0.56599	0.947000	0.37659	-0.140000	0.14226	TGC	FAF1	-	smart_UAS		0.383	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	G	NM_007051		51032844	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	51032844	G	T	51032844	4	4	139	1	0	0	0	0	0	1	0	0	5384	963	34	4	807	4	FAF1	1	51032844	Nonsense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	25399640	51032844	198217777	4	22852										
PPAP2B	8613	genome.wustl.edu	37	chr1	57002687	57002687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gcgtcatttattgtctcaccAgttttcagtgggtacttgat	9	8	3	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:57002687A>G	ENST00000371250.3	-	2	788	c.237T>C	c.(235-237)acT>acC	p.T79T		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	79					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TTGTCTCACCAGTTTTCAGTG	0.527																																																	0													239	193	208					1																	57002687		2203	4300	6503	SO:0001819	synonymous_variant	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.237T>C	1.37:g.57002687A>G			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.T79	ENST00000371250.3	37	c.237	CCDS604.1	1																																																																																			PPAP2B	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.527	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	A	NM_003713		57002687	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	silent	SNP	0.000	G	G	57002687	A	G	57002687	2	3	139	1	0	0	0	0	0	0	0	1	12315	175	7	5		5	PPAP2B	1	57002687	Silent	SNP	A	TCGA-FU-A5XV-01A-11D-A28B-09	5969843	57002687	192247934	5	22853										
FAM69A	388650	genome.wustl.edu	37	chr1	93309452	93309452	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ccatgatggtgtgaacagctGatccatgcttcttctgaacc	9	11	2	4			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:93309452G>A	ENST00000370310.4	-	5	845	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	259						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		GTGAACAGCTGATCCATGCTT	0.413																																																	0													123	99	106					1																	93309452		692	1591	2283	SO:0001587	stop_gained	388650			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.775C>T	1.37:g.93309452G>A	ENSP00000359333:p.Gln259*		Q6IRV2	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM69	p.Q259*	ENST00000370310.4	37	c.775	CCDS44173.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700897	0.88924	.	.	ENSG00000154511	ENST00000370310	.	.	.	5.82	5.82	0.92795	.	0.050370	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.0577	19.6964	0.96028	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000359333:Q259X	Q	-	1	0	FAM69A	93082040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.748000	0.94277	0.655000	0.94253	CAG	FAM69A	-	pfam_Uncharacterised_FAM69		0.413	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	HGNC	protein_coding	OTTHUMT00000030046.2	G	NM_001006605		93309452	-1	no_errors	ENST00000370310	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	93309452	G	A	93309452	4	1	139	1	0	0	0	0	0	1	0	0	5620	1299	45	1	515	1	FAM69A	1	93309452	Nonsense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	36306765	93309452	155941169	6	22854										
GNAI3	2773	genome.wustl.edu	37	chr1	110128893	110128893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aaaagtggattcactgttttGagggagtgacagcaattatc	11	5	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:110128893G>A	ENST00000369851.4	+	6	756	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCACTGTTTTGAGGGAGTGAC	0.453																																																	0													292	235	255					1																	110128893		2203	4300	6503	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.646G>A	1.37:g.110128893G>A	ENSP00000358867:p.Glu216Lys		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.E216K	ENST00000369851.4	37	c.646	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278936	0.95489	.	.	ENSG00000065135	ENST00000369851	D	0.90004	-2.6	5.02	4.08	0.47627	.	0.046302	0.85682	D	0.000000	D	0.92057	0.7483	M	0.89785	3.06	0.80722	D	1	P	0.37824	0.609	P	0.49085	0.6	D	0.93262	0.6644	10	0.87932	D	0	.	15.0743	0.72066	0.0:0.143:0.857:0.0	.	216	P08754	GNAI3_HUMAN	K	216	ENSP00000358867:E216K	ENSP00000358867:E216K	E	+	1	0	GNAI3	109930416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.190000	0.43042	0.585000	0.79938	GAG	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su		0.453	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	G	NM_006496		110128893	1	no_errors	ENST00000369851	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110128893	G	A	110128893	3	1	139	1	0	0	0	0	1	0	0	0	6525	1291	45	1	668	1	GNAI3	1	110128893	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	16819441	110128893	139121728	7	22855										
PDZK1	5174	genome.wustl.edu	37	chr1	145747058	145747058	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	acagaaatgacctccaccttCaacccccgagaatgtaaact	5	14	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:145747058C>T	ENST00000344770.2	+	2	88	c.15C>T	c.(13-15)ttC>ttT	p.F5F	PDZK1_ENST00000417171.1_Silent_p.F5F|PDZK1_ENST00000451928.2_Silent_p.F5F	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	5					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CCTCCACCTTCAACCCCCGAG	0.443																																																	0													112	126	122					1																	145747058		2203	4300	6503	SO:0001819	synonymous_variant	5174			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.15C>T	1.37:g.145747058C>T			B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F5	ENST00000344770.2	37	c.15	CCDS924.1	1																																																																																			PDZK1	-	superfamily_PDZ		0.443	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	C	NM_002614		145747058	1	no_errors	ENST00000344770	ensembl	human	known	70_37	silent	SNP	0.832	T	T	145747058	C	T	145747058	2	4	139	1	0	0	0	0	0	0	0	1	11731	825	29	1		1	PDZK1	1	145747058	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	35618165	145747058	103503563	8	22856										
SV2A	9900	genome.wustl.edu	37	chr1	149877557	149877557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctgttcccaaaagacaggaaGaagcaggagacacaggacat	11	9	0	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:149877557G>A	ENST00000369146.3	-	12	2410	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	SV2A_ENST00000369145.1_Silent_p.F640F	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	640					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAGACAGGAAGAAGCAGGAGA	0.582																																																	0													110	89	97					1																	149877557		2203	4300	6503	SO:0001819	synonymous_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1920C>T	1.37:g.149877557G>A			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.F640	ENST00000369146.3	37	c.1920	CCDS940.1	1																																																																																			SV2A	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.582	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1	G			149877557	-1	no_errors	ENST00000369146	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149877557	G	A	149877557	2	1	139	1	0	0	0	0	0	0	0	1	15447	933	33	1		1	SV2A	1	149877557	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	4130499	149877557	99373064	9	22857										
TADA1	117143	genome.wustl.edu	37	chr1	166833160	166833160	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ggcaaagatccagcaccatcTaggagacagaaatatataac	8	9	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:166833160T>A	ENST00000367874.4	-	4	326		c.e4-2		TADA1_ENST00000467021.1_5'Flank	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CAGCACCATCTAGGAGACAGA	0.393																																																	0													57	62	60					1																	166833160		2203	4300	6503	SO:0001630	splice_region_variant	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.233-2A>T	1.37:g.166833160T>A			A8K4J9	Splice_Site	SNP	-	e4-2	ENST00000367874.4	37	c.233-2	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993268	0.74703	.	.	ENSG00000152382	ENST00000367874	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6032	0.68456	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TADA1	165099784	1.000000	0.71417	0.940000	0.37924	0.938000	0.57974	6.921000	0.75805	2.333000	0.79357	0.482000	0.46254	.	TADA1	-	-		0.393	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	T	NM_053053	Intron	166833160	-1	no_errors	ENST00000367874	ensembl	human	known	70_37	splice_site	SNP	0.991	A	A	166833160	T	A	166833160	5	1	139	1	0	0	0	0	0	0	1	0	15539	1536	53	5	796	5	TADA1	1	166833160	Splice_Site	SNP	T	TCGA-FU-A5XV-01A-11D-A28B-09	16955603	166833160	82417461	10	22858										
NCF2	4688	genome.wustl.edu	37	chr1	183536404	183536404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	caagacaaagacaatgttccCtggcatgacctggagctctt	9	11	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:183536404C>T	ENST00000367535.3	-	8	1041	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	NCF2_ENST00000418089.1_Missense_Mutation_p.G183R|NCF2_ENST00000413720.1_Missense_Mutation_p.G219R|NCF2_ENST00000367536.1_Missense_Mutation_p.G264R	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	264	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACAATGTTCCCTGGCATGACC	0.537																																																	0													317	295	303					1																	183536404		2203	4300	6503	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.790G>A	1.37:g.183536404C>T	ENSP00000356505:p.Gly264Arg		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.G264R	ENST00000367535.3	37	c.790	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899400	0.72754	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;0.35	5.31	4.38	0.52667	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.91406	3.205	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.777;0.878	D;B;P	0.97110	1.0;0.396;0.838	D	0.89102	0.3490	10	0.52906	T	0.07	-28.6997	15.1556	0.72739	0.1425:0.8575:0.0:0.0	.	183;219;264	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	R	264;336;219;183;264;3	ENSP00000356506:G264R;ENSP00000399294:G219R;ENSP00000407217:G183R;ENSP00000356505:G264R;ENSP00000406198:G3R	ENSP00000356505:G264R	G	-	1	0	NCF2	181803027	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.086000	0.76885	1.215000	0.43411	0.511000	0.50034	GGG	NCF2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.537	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	C	NM_000433		183536404	-1	no_errors	ENST00000367535	ensembl	human	known	70_37	missense	SNP	0.999	T	T	183536404	C	T	183536404	3	4	139	1	0	0	0	0	1	0	0	0	10241	681	24	4	822	4	NCF2	1	183536404	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	16703244	183536404	65714217	11	22859										
APOBEC4	403314	genome.wustl.edu	37	chr1	183617142	183617142	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	attgtttaaggggtagctctCtaaagcctcctgagcttttg	10	8	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:183617142C>G	ENST00000308641.4	-	2	1046	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	259					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GGGTAGCTCTCTAAAGCCTCC	0.453																																																	0													94	99	97					1																	183617142		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.775G>C	1.37:g.183617142C>G	ENSP00000310622:p.Glu259Gln		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.E259Q	ENST00000308641.4	37	c.775	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.054648	0.01965	.	.	ENSG00000173627	ENST00000308641	T	0.11930	2.73	5.0	3.01	0.34805	.	0.845194	0.10137	N	0.711390	T	0.13927	0.0337	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.31916	-0.9926	10	0.16420	T	0.52	-34.3684	12.9984	0.58662	0.0:0.6274:0.3726:0.0	.	259	Q8WW27	ABEC4_HUMAN	Q	259	ENSP00000310622:E259Q	ENSP00000310622:E259Q	E	-	1	0	APOBEC4	181883765	0.091000	0.21658	0.005000	0.12908	0.011000	0.07611	1.151000	0.31651	1.059000	0.40554	0.655000	0.94253	GAG	APOBEC4	-	NULL		0.453	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	C	NM_203454		183617142	-1	no_errors	ENST00000308641	ensembl	human	known	70_37	missense	SNP	0.002	G	G	183617142	C	G	183617142	3	3	139	1	0	0	0	0	1	0	0	0	796	922	32	1	332	1	APOBEC4	1	183617142	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	80738	183617142	65633479	12	22860										
CYB5R1	51706	genome.wustl.edu	37	chr1	202931828	202931828	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gcccttgctgtaggcccaatCtgaagtatggggagaagaaa	13	8	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:202931828C>G	ENST00000367249.4	-	9	820		c.e9-1		CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TAGGCCCAATCTGAAGTATGG	0.567																																																	0													69	63	65					1																	202931828		2203	4300	6503	SO:0001630	splice_region_variant	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.746-1G>C	1.37:g.202931828C>G			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Splice_Site	SNP	-	e9-1	ENST00000367249.4	37	c.746-1	CCDS1431.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944379	0.73672	.	.	ENSG00000159348	ENST00000367249	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1659	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYB5R1	201198451	1.000000	0.71417	0.892000	0.35008	0.739000	0.42172	7.459000	0.80802	2.894000	0.99253	0.591000	0.81541	.	CYB5R1	-	-		0.567	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	C	NM_016243	Intron	202931828	-1	no_errors	ENST00000367249	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	202931828	C	G	202931828	5	3	139	1	0	0	0	0	0	0	1	0	4131	927	32	1	176	1	CYB5R1	1	202931828	Splice_Site	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	19314686	202931828	46318793	13	22861										
CNIH3	149111	genome.wustl.edu	37	chr1	224872537	224872537	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tcgagcgcatctgcttccttCtgcgaaaggtcagtgtggca	12	11	3	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:224872537C>G	ENST00000272133.3	+	3	1072	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	64					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTGCTTCCTTCTGCGAAAGGT	0.537																																																	0													198	156	170					1																	224872537		2203	4300	6503	SO:0001583	missense	149111			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.190C>G	1.37:g.224872537C>G	ENSP00000272133:p.Leu64Val			Missense_Mutation	SNP	pfam_Cornichon	p.L64V	ENST00000272133.3	37	c.190	CCDS1544.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532874	0.45073	.	.	ENSG00000143786	ENST00000272133	T	0.54675	0.56	4.49	2.2	0.27929	.	0.000000	0.64402	U	0.000004	T	0.45498	0.1345	L	0.45470	1.425	0.80722	D	1	B	0.34147	0.438	B	0.36134	0.218	T	0.50600	-0.8809	10	0.72032	D	0.01	-4.671	10.7685	0.46308	0.0:0.8028:0.0:0.1972	.	64	Q8TBE1	CNIH3_HUMAN	V	64	ENSP00000272133:L64V	ENSP00000272133:L64V	L	+	1	2	CNIH3	222939160	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	2.045000	0.41250	0.901000	0.36495	0.551000	0.68910	CTG	CNIH3	-	pfam_Cornichon		0.537	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNIH3	HGNC	protein_coding	OTTHUMT00000091752.2	C	NM_152495		224872537	1	no_errors	ENST00000272133	ensembl	human	known	70_37	missense	SNP	0.999	G	G	224872537	C	G	224872537	3	3	139	1	0	0	0	0	1	0	0	0	3609	912	32	1	200	1	CNIH3	1	224872537	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	21940709	224872537	24378084	14	22862										
KIAA1804	84451	genome.wustl.edu	37	chr1	233518245	233518245	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	acccacagacagcagtgtctCagctggcacagactgcctgt	10	14	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr1:233518245C>T	ENST00000366624.3	+	10	3160	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Q413*	NM_032435.2	NP_115811.2																					AGCAGTGTCTCAGCTGGCACA	0.577																																																	0													100	85	90					1																	233518245		2203	4300	6503	SO:0001587	stop_gained	84451																														ENST00000366624.3:c.2899C>T	1.37:g.233518245C>T	ENSP00000355583:p.Gln967*			Nonsense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q967*	ENST00000366624.3	37	c.2899	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.898490	0.98551	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.77	2.74	0.32292	.	3.010980	0.01005	N	0.003741	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	5.5107	0.16878	0.3009:0.5939:0.0:0.1051	.	.	.	.	X	967;413	.	ENSP00000355581:Q413X	Q	+	1	0	RP5-862P8.2	231584868	0.001000	0.12720	0.001000	0.08648	0.052000	0.14988	0.814000	0.27239	1.228000	0.43614	0.563000	0.77884	CAG	MLK4	-	pirsf_MAPKKK9/10/11		0.577	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233518245	1	no_errors	ENST00000366624	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	233518245	C	T	233518245	4	4	139	1	0	0	0	0	0	1	0	0	8279	827	29	1	2937	1	KIAA1804	1	233518245	Nonsense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	8645708	233518245	15732376	15	22863										
CEBPZ	10153	genome.wustl.edu	37	chr2	37428918	37428919	+	Frame_Shift_Ins	INS	-	-	T													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttaataactcatttcctttgINSttttttagttttttgagtgg							TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:37428918_37428919insT	ENST00000234170.5	-	16	3298_3299	c.3153_3154insA	c.(3151-3156)aaacaafs	p.Q1052fs	AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1052					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CATTTCCTTTGTTTTTTAGTTT	0.282																																																	0																																										SO:0001589	frameshift_variant	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3154dupA	2.37:g.37428924_37428924dupT	ENSP00000234170:p.Gln1052fs		Q8NE75	Frame_Shift_Ins	INS	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q1051fs	ENST00000234170.5	37	c.3154_3153	CCDS1787.1	2																																																																																			CEBPZ	-	NULL		0.282	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	-	NM_005760		37428919	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	frame_shift_ins	INS	0.990:0.984	T	T	37428919	-	T	37428918	7	5	139	1	0	1	1	0	0	0	0	0	3209	1386	48	0	14	0	CEBPZ	2	37428918	Frame_Shift_Ins	INS	-	TCGA-FU-A5XV-01A-11D-A28B-09		37428918	205770455	16	22864										
C2orf29	55571	genome.wustl.edu	37	chr2	101869796	101869812	+	Frame_Shift_Del	DEL	CGCCTCACGGCGCTCTA	CGCCTCACGGCGCTCTA	-													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgctgcctagcgcggcgcagCgcctcacggcgctctacctg							TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	CGCCTCACGGCGCTCTA	CGCCTCACGGCGCTCTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:101869796_101869812delCGCCTCACGGCGCTCTA	ENST00000289382.3	+	1	533_549	c.370_386delCGCCTCACGGCGCTCTA	c.(370-387)cgcctcacggcgctctacfs	p.RLTALY124fs	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	124					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CGCGGCGCAGCGCCTCACGGCGCTCTACCTGCTCTGG	0.724																																																	0																																										SO:0001589	frameshift_variant	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.370_386delCGCCTCACGGCGCTCTA	2.37:g.101869796_101869812delCGCCTCACGGCGCTCTA	ENSP00000289382:p.Arg124fs		Q6P2M9|Q8N681	Frame_Shift_Del	DEL	pfam_DUF2363	p.R124fs	ENST00000289382.3	37	c.370_386	CCDS2050.1	2																																																																																			C2orf29	-	NULL		0.724	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf29	HGNC	protein_coding	OTTHUMT00000253181.1	CGCCTCACGGCGCTCTA	NM_017546		101869812	1	no_errors	ENST00000289382	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.839:1.000:1.000:0.977:1.000:1.000:1.000:1.000:1.000	-	-	101869812	CGCCTCACGGCGCTCTA	-	101869796	7	5	139	1	0	1	0	1	0	0	0	0	2166	768	27	0	372	0	C2orf29	2	101869796	Frame_Shift_Del	DEL	CGCCTCACGGCGCTCTA	TCGA-FU-A5XV-01A-11D-A28B-09	64440878	101869796	141329577	17	22865										
KCNH7	90134	genome.wustl.edu	37	chr2	163693182	163693182	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gcatggcttttgcatgacatCtggcctggagaaaccagtca	11	10	2	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:163693182C>G	ENST00000332142.5	-	2	271	c.172G>C	c.(172-174)Gat>Cat	p.D58H	KCNH7_ENST00000328032.4_Missense_Mutation_p.D58H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	58	PAS.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCATGACATCTGGCCTGGAG	0.468																																					GBM(196;1492 2208 17507 24132 45496)												0													97	80	86					2																	163693182		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.172G>C	2.37:g.163693182C>G	ENSP00000331727:p.Asp58His		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.D58H	ENST00000332142.5	37	c.172	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432422	0.83776	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99582	-6.22;-6.22	5.87	4.98	0.66077	PAS fold-3 (1);PAS (2);	0.049736	0.85682	D	0.000000	D	0.99408	0.9791	L	0.55103	1.725	0.53005	D	0.999968	D;D	0.89917	0.998;1.0	P;D	0.81914	0.906;0.995	D	0.98786	1.0734	10	0.87932	D	0	.	15.3698	0.74554	0.1403:0.8597:0.0:0.0	.	58;58	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	H	58	ENSP00000331727:D58H;ENSP00000333781:D58H	ENSP00000333781:D58H	D	-	1	0	KCNH7	163401428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	1.449000	0.47699	0.655000	0.94253	GAT	KCNH7	-	pfam_PAS_fold_3,tigrfam_PAS		0.468	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	C	NM_033272		163693182	-1	no_errors	ENST00000332142	ensembl	human	known	70_37	missense	SNP	1.000	G	G	163693182	C	G	163693182	3	3	139	1	0	0	0	0	1	0	0	0	8057	913	32	1	3544	1	KCNH7	2	163693182	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	61823386	163693182	79506191	18	22866										
ERBB4	2066	genome.wustl.edu	37	chr2	212248368	212248368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cagtattccggtgtctgtaaGgtggaggcggcagcacagtg	16	8	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:212248368G>A	ENST00000342788.4	-	28	4209	c.3899C>T	c.(3898-3900)cCt>cTt	p.P1300L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1290L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1284L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1300					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTGTCTGTAAGGTGGAGGCGG	0.517										TSP Lung(8;0.080)																																							0													64	68	66					2																	212248368		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3899C>T	2.37:g.212248368G>A	ENSP00000342235:p.Pro1300Leu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P1300L	ENST00000342788.4	37	c.3899	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226633	0.79576	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.83335	-1.66;-1.71;-1.68	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.90352	0.4367	10	0.87932	D	0	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	1274;1290;1284;1300	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1300;1284;1290	ENSP00000342235:P1300L;ENSP00000403204:P1284L;ENSP00000385565:P1290L	ENSP00000342235:P1300L	P	-	2	0	ERBB4	211956613	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.812000	0.96745	0.557000	0.71058	CCT	ERBB4	-	NULL		0.517	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	G	NM_001042599		212248368	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	A	A	212248368	G	A	212248368	3	1	139	1	0	0	0	0	1	0	0	0	5221	1000	35	4	31	4	ERBB4	2	212248368	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	48555186	212248368	30951005	19	22867										
CCDC108	255101	genome.wustl.edu	37	chr2	219892628	219892628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctacctcgacaggctctacaCtgatgggcggggggaagatg	15	10	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:219892628C>T	ENST00000341552.5	-	13	2038	c.1955G>A	c.(1954-1956)aGt>aAt	p.S652N	CCDC108_ENST00000453220.1_Missense_Mutation_p.S652N|CCDC108_ENST00000441968.1_Missense_Mutation_p.S652N|CCDC108_ENST00000409865.3_Missense_Mutation_p.S641N|CCDC108_ENST00000410037.1_Missense_Mutation_p.S587N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	652						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.S652I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTCTACACTGATGGGCGG	0.612																																																	1	Substitution - Missense(1)	lung(1)											43	46	45					2																	219892628		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1955G>A	2.37:g.219892628C>T	ENSP00000340776:p.Ser652Asn		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.S652N	ENST00000341552.5	37	c.1955	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586707	0.46110	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.10382	3.17;3.17;3.17;2.88;2.89	5.18	3.27	0.37495	.	0.393310	0.21756	N	0.069597	T	0.25606	0.0623	L	0.59436	1.845	0.80722	D	1	D;D;D	0.63046	0.992;0.985;0.992	P;P;P	0.61397	0.888;0.795;0.888	T	0.02821	-1.1106	10	0.46703	T	0.11	-9.8413	15.2267	0.73357	0.0:0.5684:0.4316:0.0	.	641;586;652	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	N	652;652;652;128;641;587;586	ENSP00000340776:S652N;ENSP00000413377:S652N;ENSP00000409117:S652N;ENSP00000386945:S641N;ENSP00000386258:S587N	ENSP00000340776:S652N	S	-	2	0	CCDC108	219600872	0.975000	0.34042	0.774000	0.31636	0.230000	0.25150	1.736000	0.38187	1.378000	0.46305	0.655000	0.94253	AGT	CCDC108	-	NULL		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219892628	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.890	T	T	219892628	C	T	219892628	3	4	139	1	0	0	0	0	1	0	0	0	2748	565	20	4	3914	4	CCDC108	2	219892628	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	7644260	219892628	23306745	20	22868										
HTR2B	3357	genome.wustl.edu	37	chr2	231973557	231973557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gtagaccaaaggattcactcCtgaggaaacatagcctatcc	8	11	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:231973557C>T	ENST00000258400.3	-	4	1632	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	374					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GGATTCACTCCTGAGGAAACA	0.393																																					Ovarian(155;1331 1891 12853 14038 34991)												0													93	97	95					2																	231973557		2203	4300	6503	SO:0001583	missense	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1120G>A	2.37:g.231973557C>T	ENSP00000258400:p.Gly374Arg		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.G374R	ENST00000258400.3	37	c.1120	CCDS2483.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904743	0.92035	.	.	ENSG00000135914	ENST00000258400	T	0.37752	1.18	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70525	-0.4848	10	0.56958	D	0.05	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	189;374	B3VRC5;P41595	.;5HT2B_HUMAN	R	374	ENSP00000258400:G374R	ENSP00000258400:G374R	G	-	1	0	HTR2B	231681801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	GGA	HTR2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2B	HGNC	protein_coding	OTTHUMT00000256957.2	C	NM_000867		231973557	-1	no_errors	ENST00000258400	ensembl	human	known	70_37	missense	SNP	1.000	T	T	231973557	C	T	231973557	3	4	139	1	0	0	0	0	1	0	0	0	7462	690	24	4	329	4	HTR2B	2	231973557	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	12080929	231973557	11225816	21	22869										
UGT1A10	54575	genome.wustl.edu	37	chr2	234545342	234545342	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gggcatgaggtggttgtagtCatgccagaggtgagttggca	18	5	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr2:234545342C>T	ENST00000344644.5	+	1	243	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.V58V	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	58					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.V58V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGGTTGTAGTCATGCCAGAGG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											106	89	94					2																	234545342		2203	4300	6503	SO:0001819	synonymous_variant	54575			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.174C>T	2.37:g.234545342C>T			O00474|Q6NT91|Q7Z6H8	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V58	ENST00000344644.5	37	c.174	CCDS33403.1	2																																																																																			UGT1A10	-	pfam_UDP_glucos_trans		0.517	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	HGNC	protein_coding	OTTHUMT00000130986.1	C	NM_019075		234545342	1	no_errors	ENST00000344644	ensembl	human	known	70_37	silent	SNP	0.007	T	T	234545342	C	T	234545342	2	4	139	1	0	0	0	0	0	0	0	1	16976	813	29	1		1	UGT1A10	2	234545342	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	2571785	234545342	8654031	22	22870										
TGFBR2	7048	genome.wustl.edu	37	chr3	30691871	30691872	+	Frame_Shift_Ins	INS	-	-	A													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tccaaagtgcattatgaaggINSaaaaaaaaaagcctggtgag					rs79375991		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:30691871_30691872insA	ENST00000295754.5	+	3	755_756	c.373_374insA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATTATGAAGGAAAAAAAAAAG	0.421																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)																																								SO:0001589	frameshift_variant	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.383dupA	3.37:g.30691881_30691881dupA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Ins	INS	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.K154fs	ENST00000295754.5	37	c.448_449	CCDS2648.1	3																																																																																			TGFBR2	-	pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt		0.421	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-			30691872	1	no_errors	ENST00000359013	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	30691872	-	A	30691871	7	5	139	1	0	1	1	0	0	0	0	0	15852	1175	41	0	462	0	TGFBR2	3	30691871	Frame_Shift_Ins	INS	-	TCGA-FU-A5XV-01A-11D-A28B-09		30691871	167330559	23	22871										
MYH15	22989	genome.wustl.edu	37	chr3	108159942	108159942	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	atcgatttctttcttcaactCaaaacattcatcttcgagtt	3	10	6	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:108159942C>G	ENST00000273353.3	-	24	2937	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	961						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTCAACTCAAAACATTCA	0.458																																																	0													175	174	174					3																	108159942		1979	4173	6152	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2881G>C	3.37:g.108159942C>G	ENSP00000273353:p.Glu961Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E961Q	ENST00000273353.3	37	c.2881	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271681	0.80469	.	.	ENSG00000144821	ENST00000273353	D	0.92752	-3.1	5.91	5.91	0.95273	.	.	.	.	.	D	0.93939	0.8060	M	0.83603	2.65	0.47153	D	0.999339	P	0.42518	0.782	B	0.43194	0.411	D	0.94220	0.7466	9	0.72032	D	0.01	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	961	Q9Y2K3	MYH15_HUMAN	Q	961	ENSP00000273353:E961Q	ENSP00000273353:E961Q	E	-	1	0	MYH15	109642632	0.997000	0.39634	0.867000	0.34043	0.921000	0.55340	4.067000	0.57527	2.791000	0.96007	0.650000	0.86243	GAG	MYH15	-	superfamily_Prefoldin		0.458	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108159942	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108159942	C	G	108159942	3	3	139	1	0	0	0	0	1	0	0	0	10057	835	29	1	3035	1	MYH15	3	108159942	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	77468071	108159942	89862488	24	22872										
GAP43	2596	genome.wustl.edu	37	chr3	115395319	115395319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aagatgccccagccaaggagGagcctaaacaagccgatgtg	12	11	0	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:115395319G>A	ENST00000305124.6	+	2	856	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GAP43_ENST00000393780.3_Missense_Mutation_p.E200K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	164					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGCCAAGGAGGAGCCTAAACA	0.602																																																	0													31	32	32					3																	115395319		2203	4296	6499	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.490G>A	3.37:g.115395319G>A	ENSP00000305010:p.Glu164Lys		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.E164K	ENST00000305124.6	37	c.490	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.481448	0.96307	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.51817	0.69;0.69	5.97	5.97	0.96955	Neuromodulin (GAP-43), C-terminal (1);	0.049902	0.85682	D	0.000000	T	0.69061	0.3069	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	T	0.63708	-0.6576	10	0.37606	T	0.19	-15.9761	20.4387	0.99107	0.0:0.0:1.0:0.0	.	200;164	A8K0Y4;P17677	.;NEUM_HUMAN	K	164;200	ENSP00000305010:E164K;ENSP00000377372:E200K	ENSP00000305010:E164K	E	+	1	0	GAP43	116878009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.352000	0.79404	2.836000	0.97738	0.655000	0.94253	GAG	GAP43	-	pfam_Neuromodulin_C		0.602	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	G	NM_002045		115395319	1	no_errors	ENST00000305124	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115395319	G	A	115395319	3	1	139	1	0	0	0	0	1	0	0	0	6254	1175	41	1	638	1	GAP43	3	115395319	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	7235377	115395319	82627111	25	22873										
SR140	23350	genome.wustl.edu	37	chr3	142731178	142731178	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aaagcctttgtgattctcctCatcagaatctctcaagagtg	7	10	5	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:142731178C>T	ENST00000473835.2	+	3	295	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	U2SURP_ENST00000493598.2_Missense_Mutation_p.H69Y|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	69					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGATTCTCCTCATCAGAATCT	0.373																																																	0													49	45	47					3																	142731178		1835	4078	5913	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.205C>T	3.37:g.142731178C>T	ENSP00000418563:p.His69Tyr		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.H69Y	ENST00000473835.2	37	c.205	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987308	0.53934	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11063	2.81;2.81	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000005	T	0.14743	0.0356	N	0.08118	0	0.80722	D	1	B;B;B	0.33000	0.273;0.393;0.273	B;P;P	0.51701	0.152;0.677;0.478	T	0.37572	-0.9700	10	0.59425	D	0.04	-18.5782	15.3956	0.74790	0.0:1.0:0.0:0.0	.	69;69;69	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	Y	69;69;69;69;39	ENSP00000418563:H69Y;ENSP00000422011:H69Y	ENSP00000322376:H69Y	H	+	1	0	U2SURP	144213868	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.505000	0.53356	2.776000	0.95493	0.655000	0.94253	CAT	U2SURP	-	NULL		0.373	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	C	NM_001080415		142731178	1	no_errors	ENST00000319822	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142731178	C	T	142731178	3	4	139	1	0	0	0	0	1	0	0	0	15161	826	29	1	215	1	SR140	3	142731178	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	27335859	142731178	55291252	26	22874										
LIPH	200879	genome.wustl.edu	37	chr3	185252608	185252608	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctacttttctggtcttactaGaggcatgggtatatattaaa	8	6	2	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr3:185252608G>C	ENST00000296252.4	-	2	503	c.362C>G	c.(361-363)tCt>tGt	p.S121C	LIPH_ENST00000424591.2_Missense_Mutation_p.S121C	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	121					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTCTTACTAGAGGCATGGGT	0.388																																																	0													81	80	80					3																	185252608		2203	4300	6503	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.362C>G	3.37:g.185252608G>C	ENSP00000296252:p.Ser121Cys		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.S121C	ENST00000296252.4	37	c.362	CCDS3272.1	3	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365286	0.41902	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.91180	-2.73;-2.8	5.79	5.79	0.91817	Lipase, N-terminal (1);	0.452491	0.25610	N	0.029489	D	0.94384	0.8194	M	0.69358	2.11	0.25355	N	0.988838	D;P	0.64830	0.994;0.86	D;P	0.62955	0.909;0.852	D	0.89062	0.3463	10	0.54805	T	0.06	-9.441	19.0001	0.92830	0.0:0.0:1.0:0.0	.	121;121	A2IBA6;Q8WWY8	.;LIPH_HUMAN	C	121	ENSP00000296252:S121C;ENSP00000396384:S121C	ENSP00000296252:S121C	S	-	2	0	LIPH	186735302	0.129000	0.22400	0.030000	0.17652	0.016000	0.09150	2.785000	0.47782	2.718000	0.92993	0.655000	0.94253	TCT	LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.388	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	G			185252608	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	missense	SNP	0.603	C	C	185252608	G	C	185252608	3	2	139	1	0	0	0	0	1	0	0	0	8845	942	33	1	1029	1	LIPH	3	185252608	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	42521430	185252608	12769822	27	22875										
DDIT4L	115265	genome.wustl.edu	37	chr4	101109298	101109298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctcgttgaggttgggttcagGaacaacataatcccagtagt	11	8	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr4:101109298G>A	ENST00000273990.2	-	3	332	c.118C>T	c.(118-120)Cct>Tct	p.P40S	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	40					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTGGGTTCAGGAACAACATAA	0.333																																																	0													52	55	54					4																	101109298		2200	4297	6497	SO:0001583	missense	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.118C>T	4.37:g.101109298G>A	ENSP00000354830:p.Pro40Ser		B2R7C3	Missense_Mutation	SNP	pfam_RTP801-like	p.P40S	ENST00000273990.2	37	c.118	CCDS34036.1	4	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198040	0.38806	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T	0.46451	0.88;0.87	5.63	5.63	0.86233	.	0.076020	0.53938	D	0.000045	T	0.27765	0.0683	N	0.19112	0.55	0.33634	D	0.606434	P	0.39809	0.689	B	0.34590	0.186	T	0.44143	-0.9347	10	0.44086	T	0.13	-20.4066	13.4482	0.61153	0.0:0.0:0.8432:0.1568	.	40	Q96D03	DDT4L_HUMAN	S	40	ENSP00000354830:P40S;ENSP00000427301:P40S	ENSP00000354830:P40S	P	-	1	0	DDIT4L	101328321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.027000	0.49697	2.652000	0.90054	0.655000	0.94253	CCT	DDIT4L	-	NULL		0.333	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	G	NM_145244		101109298	-1	no_errors	ENST00000273990	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101109298	G	A	101109298	3	1	139	1	0	0	0	0	1	0	0	0	4337	1174	41	1	467	1	DDIT4L	4	101109298	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		101109298	90044978	28	22876										
FBXW7	55294	genome.wustl.edu	37	chr4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tttcatgaagatgcatacaaCgcacagtggaagtatgccca	9	9	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)											253	218	230					4																	153249384		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465H	ENST00000281708.4	37	c.1394	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153249384	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153249384	C	T	153249384	3	4	139	1	0	0	0	0	1	0	0	0	5787	536	19	2	745	2	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	52140086	153249384	37904892	29	22877										
EXOC3	11336	genome.wustl.edu	37	chr5	446336	446336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tcaccatgaaggagacagacCgggaggccgttgcgacagca	14	11	1	3	rs376575084		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:446336C>T	ENST00000512944.1	+	2	205	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	EXOC3_ENST00000315013.5_Missense_Mutation_p.R6W|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	17					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAGACAGACCGGGAGGCCGT	0.567																																																	0								C	TRP/ARG	1,3995		0,1,1997	82	84	83		16	2.3	1	5		83	0,8336		0,0,4168	no	missense	EXOC3	NM_007277.4	101	0,1,6165	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	6/746	446336	1,12331	1998	4168	6166	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.16C>T	5.37:g.446336C>T	ENSP00000425587:p.Arg6Trp		Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.R6W	ENST00000512944.1	37	c.16	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032766	0.75504	2.5E-4	0.0	ENSG00000180104	ENST00000512944;ENST00000508022;ENST00000315013;ENST00000340158	T;T	0.08807	3.05;3.05	5.29	2.33	0.28932	.	0.104412	0.64402	N	0.000007	T	0.14917	0.0360	L	0.38175	1.15	0.52501	D	0.999952	D	0.76494	0.999	P	0.59546	0.859	T	0.00961	-1.1499	10	0.72032	D	0.01	-20.7014	11.8551	0.52433	0.5938:0.4062:0.0:0.0	.	17	O60645	EXOC3_HUMAN	W	6;6;6;16	ENSP00000425587:R6W;ENSP00000323377:R6W	ENSP00000323377:R6W	R	+	1	2	EXOC3	499336	0.891000	0.30450	0.998000	0.56505	0.986000	0.74619	0.451000	0.21779	0.595000	0.29777	-0.158000	0.13435	CGG	EXOC3	-	NULL		0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	C	NM_007277		446336	1	no_errors	ENST00000315013	ensembl	human	known	70_37	missense	SNP	1.000	T	T	446336	C	T	446336	3	4	139	1	0	0	0	0	1	0	0	0	5315	643	23	2	18	2	EXOC3	5	446336	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		446336	180468924	30	22878										
IRX4	50805	genome.wustl.edu	37	chr5	1879705	1879705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctccgcgtagggccgcttctCgtctgcgcacttgttccgcg	12	16	2	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:1879705C>T	ENST00000505790.1	-	5	1105	c.649G>A	c.(649-651)Gag>Aag	p.E217K	IRX4_ENST00000231357.2_Missense_Mutation_p.E217K|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.E217K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	217					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCCGCTTCTCGTCTGCGCAC	0.677																																																	0													44	42	43					5																	1879705		2202	4300	6502	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.649G>A	5.37:g.1879705C>T	ENSP00000423161:p.Glu217Lys		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.E217K	ENST00000505790.1	37	c.649	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892342	0.72524	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.68903	-0.36;-0.36;-0.36	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.49126	1.545	0.80722	D	1	D	0.56746	0.977	P	0.44394	0.448	T	0.70995	-0.4720	10	0.62326	D	0.03	-17.9595	15.4132	0.74943	0.0:1.0:0.0:0.0	.	217	P78413	IRX4_HUMAN	K	217	ENSP00000231357:E217K;ENSP00000423161:E217K;ENSP00000424235:E217K	ENSP00000231357:E217K	E	-	1	0	IRX4	1932705	1.000000	0.71417	0.912000	0.35992	0.287000	0.27160	7.181000	0.77682	2.156000	0.67533	0.462000	0.41574	GAG	IRX4	-	NULL		0.677	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	C	NM_016358		1879705	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	0.998	T	T	1879705	C	T	1879705	3	4	139	1	0	0	0	0	1	0	0	0	7866	893	31	1	918	1	IRX4	5	1879705	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	1433369	1879705	179035555	31	22879										
KIAA0947	23379	genome.wustl.edu	37	chr5	5462874	5462874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cagatgctgctgtagccgagGtgagaccttccttagaggta	13	9	0	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:5462874G>C	ENST00000296564.7	+	13	3649	c.3427G>C	c.(3427-3429)Gtg>Ctg	p.V1143L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1143					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTAGCCGAGGTGAGACCTTC	0.453																																																	0													73	71	72					5																	5462874		1980	4174	6154	SO:0001583	missense	23379																														ENST00000296564.7:c.3427G>C	5.37:g.5462874G>C	ENSP00000296564:p.Val1143Leu		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.V1143L	ENST00000296564.7	37	c.3427	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	g	9.438	1.087427	0.20390	.	.	ENSG00000164151	ENST00000296564	T	0.10477	2.87	5.12	-10.2	0.00374	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.16289	0.015	T	0.38887	-0.9640	9	0.23891	T	0.37	-0.1219	6.7247	0.23350	0.2743:0.0907:0.5449:0.0901	.	1143	Q9Y2F5	K0947_HUMAN	L	1143	ENSP00000296564:V1143L	ENSP00000296564:V1143L	V	+	1	0	KIAA0947	5515874	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.898000	0.04105	-2.123000	0.00823	-0.755000	0.03482	GTG	KIAA0947	-	NULL		0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5462874	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5462874	G	C	5462874	3	2	139	1	0	0	0	0	1	0	0	0	8222	1261	44	4	3477	4	KIAA0947	5	5462874	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	3583169	5462874	175452386	32	22880										
CDH9	1007	genome.wustl.edu	37	chr5	26915832	26915832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgtattttaatgataaattcCgattccggttccacctgccg	7	10	0	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:26915832C>T	ENST00000231021.4	-	3	601	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S143S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATAAATTCCGATTCCGGTT	0.398																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - coding silent(1)	lung(1)											116	116	116					5																	26915832		2203	4299	6502	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.429G>A	5.37:g.26915832C>T			Q3B7I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S143	ENST00000231021.4	37	c.429	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	C	NM_016279		26915832	-1	no_errors	ENST00000231021	ensembl	human	known	70_37	silent	SNP	0.927	T	T	26915832	C	T	26915832	2	4	139	1	0	0	0	0	0	0	0	1	3122	639	23	2		2	CDH9	5	26915832	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	21452958	26915832	153999428	33	22881										
C9	735	genome.wustl.edu	37	chr5	39308447	39308447	+	Frame_Shift_Del	DEL	T	T	-													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ccaaggcatctctttatgtcTtttagttcaacacctgttta							TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:39308447delT	ENST00000263408.4	-	8	1220	c.1125delA	c.(1123-1125)aaafs	p.K375fs		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	375	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTTTATGTCTTTTAGTTCAA	0.318																																																	0													90	89	89					5																	39308447		2203	4300	6503	SO:0001589	frameshift_variant	735				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1125delA	5.37:g.39308447delT	ENSP00000263408:p.Lys375fs			Frame_Shift_Del	DEL	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.D376fs	ENST00000263408.4	37	c.1125	CCDS3929.1	5																																																																																			C9	-	pfam_MACPF,smart_MACPF		0.318	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	T			39308447	-1	no_errors	ENST00000263408	ensembl	human	known	70_37	frame_shift_del	DEL	0.002	-	-	39308447	T	-	39308447	7	5	139	1	0	1	0	1	0	0	0	0	2448	1606	56	0	570	0	C9	5	39308447	Frame_Shift_Del	DEL	T	TCGA-FU-A5XV-01A-11D-A28B-09	12392615	39308447	141606813	34	22882										
JMY	133746	genome.wustl.edu	37	chr5	78610439	78610439	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ccactcccatcccctcttccTccaacaccaccacctccccc	0	27	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:78610439T>G	ENST00000396137.4	+	9	2886	c.2424T>G	c.(2422-2424)ccT>ccG	p.P808P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	808	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CCCCTCTTCCTccaacaccac	0.537																																																	0													110	103	105					5																	78610439		1888	4107	5995	SO:0001819	synonymous_variant	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2424T>G	5.37:g.78610439T>G			A1L4P5|B5MDS2|B5MDT0	Silent	SNP	pfscan_WH2_dom	p.P808	ENST00000396137.4	37	c.2424	CCDS4047.3	5																																																																																			JMY	-	NULL		0.537	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	T	NM_152405		78610439	1	no_errors	ENST00000396137	ensembl	human	known	70_37	silent	SNP	0.178	G	G	78610439	T	G	78610439	2	3	139	1	0	0	0	0	0	0	0	1	7977	1538	54	5		5	JMY	5	78610439	Silent	SNP	T	TCGA-FU-A5XV-01A-11D-A28B-09	39301992	78610439	102304821	35	22883										
GPR98	84059	genome.wustl.edu	37	chr5	89943530	89943530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ccatatttgttaatgaagatGgtatcccggaaacagatgag	10	6	0	4			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:89943530G>T	ENST00000405460.2	+	17	3334	c.3238G>T	c.(3238-3240)Ggt>Tgt	p.G1080C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1080	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATGAAGATGGTATCCCGGA	0.368																																																	0													129	125	126					5																	89943530		1861	4096	5957	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3238G>T	5.37:g.89943530G>T	ENSP00000384582:p.Gly1080Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G1080C	ENST00000405460.2	37	c.3238	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.20|14.20	2.465158|2.465158	0.43839|0.43839	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.30714|.	1.52|.	5.64|5.64	3.87|3.87	0.44632|0.44632	Na-Ca exchanger/integrin-beta4 (2);|.	0.281256|.	0.44688|.	D|.	0.000431|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.62298|.	0.9|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.72032|.	D|.	0.01|.	.|.	12.17|12.17	0.54152|0.54152	0.1384:0.0:0.8616:0.0|0.1384:0.0:0.8616:0.0	.|.	1080|.	Q8WXG9|.	GPR98_HUMAN|.	C|L	1080|668	ENSP00000384582:G1080C|.	ENSP00000296619:G1080C|.	G|W	+|+	1|2	0|0	GPR98|GPR98	89979286|89979286	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.072000|0.072000	0.16883|0.16883	3.669000|3.669000	0.54561|0.54561	0.749000|0.749000	0.32854|0.32854	-0.145000|-0.145000	0.13849|0.13849	GGT|TGG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89943530	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89943530	G	T	89943530	3	4	139	1	0	0	0	0	1	0	0	0	6741	1348	47	4	3304	4	GPR98	5	89943530	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	11333091	89943530	90971730	36	22884										
PDGFRB	5159	genome.wustl.edu	37	chr5	149515391	149515391	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gggtgtgacgaccaggccctGagagatctgtggttccagaa	15	9	1	4			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:149515391G>C	ENST00000261799.4	-	3	560	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	31					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGCCCTGAGAGATCTGT	0.587			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													32	32	32					5																	149515391		2203	4300	6503	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.91C>G	5.37:g.149515391G>C	ENSP00000261799:p.Gln31Glu		B5A957|Q8N5L4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.Q31E	ENST00000261799.4	37	c.91	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972897	0.02215	.	.	ENSG00000113721	ENST00000261799;ENST00000517957	T;T	0.74737	-0.87;2.33	4.6	0.39	0.16275	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.028510	0.07752	N	0.948812	T	0.47655	0.1457	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.035;0.002	B;B	0.19946	0.027;0.004	T	0.30736	-0.9968	10	0.18710	T	0.47	.	1.0549	0.01588	0.2098:0.177:0.4313:0.1819	.	31;31	B5A957;P09619	.;PGFRB_HUMAN	E	31	ENSP00000261799:Q31E;ENSP00000430715:Q31E	ENSP00000261799:Q31E	Q	-	1	0	PDGFRB	149495584	0.005000	0.15991	0.180000	0.23079	0.748000	0.42578	0.109000	0.15417	0.242000	0.21303	0.561000	0.74099	CAG	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like		0.587	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149515391	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	missense	SNP	0.004	C	C	149515391	G	C	149515391	3	2	139	1	0	0	0	0	1	0	0	0	11686	1299	45	1	3313	1	PDGFRB	5	149515391	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	59571861	149515391	31399869	37	22885										
AGXT2L2	85007	genome.wustl.edu	37	chr5	177658509	177658509	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	acaggatcctcgggaaaaaaGagtctgcaggaagagctgtg	14	7	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:177658509G>T	ENST00000308158.5	-	2	309	c.75C>A	c.(73-75)ctC>ctA	p.L25L	PHYKPL_ENST00000476170.2_Silent_p.L25L|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	25						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CGGGAAAAAAGAGTCTGCAGG	0.552																																																	0													128	119	122					5																	177658509		2203	4300	6503	SO:0001819	synonymous_variant	85007			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.75C>A	5.37:g.177658509G>T			A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L25	ENST00000308158.5	37	c.75	CCDS4434.1	5																																																																																			AGXT2L2	-	NULL		0.552	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2L2	HGNC	protein_coding	OTTHUMT00000253477.1	G	NM_032921		177658509	-1	no_errors	ENST00000308158	ensembl	human	known	70_37	silent	SNP	1.000	T	T	177658509	G	T	177658509	2	4	139	1	0	0	0	0	0	0	0	1	407	929	33	3		3	AGXT2L2	5	177658509	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	28143118	177658509	3256751	38	22886										
SQSTM1	8878	genome.wustl.edu	37	chr5	179260716	179260716	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aatccgaagggccaagctctCtggacccctcccaggaggga	12	14	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr5:179260716C>G	ENST00000389805.4	+	7	1277	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	SQSTM1_ENST00000402874.3_Missense_Mutation_p.L283V|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L283V|SQSTM1_ENST00000376929.3_Missense_Mutation_p.L283V|SQSTM1_ENST00000510187.1_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	367	Interaction with NTRK1. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAAGCTCTCTGGACCCCTC	0.542																																																	0													73	73	73					5																	179260716		2203	4300	6503	SO:0001583	missense	8878			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1099C>G	5.37:g.179260716C>G	ENSP00000374455:p.Leu367Val		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.L367V	ENST00000389805.4	37	c.1099	CCDS34317.1	5	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910685	0.17833	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000360718	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.16	-2.0	0.07433	.	0.607555	0.15543	N	0.256855	T	0.71970	0.3403	L	0.27053	0.805	0.09310	N	0.999996	B	0.17852	0.024	B	0.12156	0.007	T	0.56655	-0.7943	10	0.35671	T	0.21	-11.843	1.947	0.03358	0.1147:0.3868:0.2066:0.292	.	367	Q13501	SQSTM_HUMAN	V	283;367;223;283;283	ENSP00000366128:L283V;ENSP00000374455:L367V;ENSP00000385553:L283V;ENSP00000353944:L283V	ENSP00000353944:L283V	L	+	1	2	SQSTM1	179193322	0.992000	0.36948	0.520000	0.27837	0.929000	0.56500	1.018000	0.30002	-0.087000	0.12528	-0.459000	0.05422	CTG	SQSTM1	-	NULL		0.542	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQSTM1	HGNC	protein_coding	OTTHUMT00000319344.1	C			179260716	1	no_errors	ENST00000389805	ensembl	human	known	70_37	missense	SNP	0.037	G	G	179260716	C	G	179260716	3	3	139	1	0	0	0	0	1	0	0	0	15160	912	32	1	1125	1	SQSTM1	5	179260716	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	1602207	179260716	1654544	39	22887										
HIST1H4E	8367	genome.wustl.edu	37	chr6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgtggtctacgcgctgaagaGacagggacgcactctttacg	13	10	2	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537																																																	1	Substitution - Missense(1)	lung(1)											129	111	117					6																	26205150		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.278G>C	6.37:g.26205150G>C	ENSP00000353624:p.Arg93Thr		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R93T	ENST00000360441.4	37	c.278	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	15.29	2.790267	0.50102	.	.	ENSG00000198518	ENST00000360441	T	0.68624	-0.34	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68016	0.2955	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	T	0.73783	-0.3874	7	0.72032	D	0.01	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	T	93	ENSP00000353624:R93T	ENSP00000353624:R93T	R	+	2	0	HIST1H4E	26313129	1.000000	0.71417	0.692000	0.30179	0.004000	0.04260	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	AGA	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	G	NM_003545		26205150	1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26205150	G	C	26205150	3	2	139	1	0	0	0	0	1	0	0	0	7189	942	33	1	280	1	HIST1H4E	6	26205150	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		26205150	144909917	40	22888										
MEP1A	4224	genome.wustl.edu	37	chr6	46793205	46793205	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttcagtgccattgatttagaGaggctgaaccgaatgtacaa	10	7	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:46793205G>C	ENST00000230588.4	+	8	762	c.753G>C	c.(751-753)gaG>gaC	p.E251D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	251	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGATTTAGAGAGGCTGAACC	0.433																																																	0													98	89	92					6																	46793205		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.753G>C	6.37:g.46793205G>C	ENSP00000230588:p.Glu251Asp		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.E251D	ENST00000230588.4	37	c.753	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254313	0.59212	.	.	ENSG00000112818	ENST00000230588	T	0.64618	-0.11	6.16	1.07	0.20283	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.522079	0.22979	N	0.053321	T	0.35451	0.0932	L	0.35288	1.05	0.34822	D	0.738831	B;P	0.48998	0.372;0.918	B;P	0.49140	0.27;0.601	T	0.16600	-1.0397	10	0.12766	T	0.61	-16.1149	10.7728	0.46332	0.4907:0.0:0.5093:0.0	.	279;251	B7ZL91;Q16819	.;MEP1A_HUMAN	D	251	ENSP00000230588:E251D	ENSP00000230588:E251D	E	+	3	2	MEP1A	46901164	0.942000	0.31987	0.839000	0.33178	0.984000	0.73092	0.565000	0.23578	0.120000	0.18254	0.650000	0.86243	GAG	MEP1A	-	pfam_Peptidase_M12A,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A		0.433	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	G	NM_005588		46793205	1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.808	C	C	46793205	G	C	46793205	3	2	139	1	0	0	0	0	1	0	0	0	9498	933	33	1	783	1	MEP1A	6	46793205	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	20588055	46793205	124321862	41	22889										
DEFB113	245927	genome.wustl.edu	37	chr6	49936402	49936402	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	attataatttatttttgatgGagtttactagtgattttgtt	7	1	0	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:49936402G>T	ENST00000398718.1	-	2	236	c.237C>A	c.(235-237)ctC>ctA	p.L79L		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	79					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					atttttGATGGAGTTTACTAG	0.284																																																	0													35	31	32					6																	49936402		1770	3992	5762	SO:0001819	synonymous_variant	245927			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"Defensins, beta"	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.237C>A	6.37:g.49936402G>T				Silent	SNP	NULL	p.L79	ENST00000398718.1	37	c.237	CCDS43472.1	6																																																																																			DEFB113	-	NULL		0.284	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	HGNC	protein_coding	OTTHUMT00000359666.1	G			49936402	-1	no_errors	ENST00000398718	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49936402	G	T	49936402	2	4	139	1	0	0	0	0	0	0	0	1	4411	1161	41	3		3	DEFB113	6	49936402	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	3143197	49936402	121178665	42	22890										
FAM46A	55603	genome.wustl.edu	37	chr6	82459782	82459782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	agaagtcgatgaaaaacctgGaacacatatacctttgaagg	9	7	0	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:82459782G>A	ENST00000320172.6	-	3	1273	c.959C>T	c.(958-960)tCc>tTc	p.S320F	FAM46A_ENST00000369756.3_Missense_Mutation_p.S401F|FAM46A_ENST00000369754.3_Missense_Mutation_p.S339F	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	320					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GAAAAACCTGGAACACATATA	0.488																																																	0													65	67	66					6																	82459782		2203	4300	6503	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.959C>T	6.37:g.82459782G>A	ENSP00000318298:p.Ser320Phe		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.S401F	ENST00000320172.6	37	c.1202	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973749	0.74246	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.36878	1.23;1.23;1.23	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	M	0.90870	3.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.994	T	0.73139	-0.4077	10	0.87932	D	0	-22.5547	20.3931	0.98965	0.0:0.0:1.0:0.0	.	320;339	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	F	339;320;401	ENSP00000358769:S339F;ENSP00000318298:S320F;ENSP00000358771:S401F	ENSP00000318298:S320F	S	-	2	0	FAM46A	82516501	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	TCC	FAM46A	-	pfam_DUF1693		0.488	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	G			82459782	-1	no_errors	ENST00000369756	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82459782	G	A	82459782	3	1	139	1	0	0	0	0	1	0	0	0	5583	1174	41	1	373	1	FAM46A	6	82459782	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	32523380	82459782	88655285	43	22891										
SNAP91	9892	genome.wustl.edu	37	chr6	84317425	84317425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tttatttaccaacctgactgGgacagccgcagatgcagttg	10	10	0	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:84317425G>A	ENST00000439399.2	-	13	1331	c.1015C>T	c.(1015-1017)Cca>Tca	p.P339S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P337S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P339S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P323S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P323S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P339S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P339S|SNAP91_ENST00000428679.2_Missense_Mutation_p.P339S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P339S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	339					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AACCTGACTGGGACAGCCGCA	0.373																																																	0													56	52	53					6																	84317425		1832	4078	5910	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1015C>T	6.37:g.84317425G>A	ENSP00000400459:p.Pro339Ser		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P339S	ENST00000439399.2	37	c.1015	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860419	0.51482	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000447888	T;T;T;T;T;T;T;T;T;T	0.34859	2.22;2.23;2.23;2.22;2.24;2.29;2.2;2.23;2.29;1.34	6.08	6.08	0.98989	.	0.121727	0.53938	D	0.000047	T	0.15046	0.0363	L	0.36672	1.1	0.41373	D	0.987506	B;B;B;B	0.34103	0.419;0.437;0.437;0.437	B;B;B;B	0.32342	0.144;0.14;0.14;0.14	T	0.03287	-1.1052	10	0.11182	T	0.66	-11.9071	15.7276	0.77774	0.0:0.136:0.8639:0.0	.	323;337;339;337	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	S	339;339;339;339;339;323;337;339;323;337;65	ENSP00000429776:P339S;ENSP00000358708:P339S;ENSP00000400459:P339S;ENSP00000195649:P339S;ENSP00000412492:P339S;ENSP00000413277:P323S;ENSP00000428511:P337S;ENSP00000428215:P339S;ENSP00000428026:P323S;ENSP00000430071:P337S	ENSP00000195649:P339S	P	-	1	0	SNAP91	84374144	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.831000	0.55776	2.894000	0.99253	0.655000	0.94253	CCA	SNAP91	-	NULL		0.373	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	G			84317425	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84317425	G	A	84317425	3	1	139	1	0	0	0	0	1	0	0	0	14863	1232	43	4	1776	4	SNAP91	6	84317425	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	1857643	84317425	86797642	44	22892										
REPS1	85021	genome.wustl.edu	37	chr6	139265136	139265136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttgtagctgatgctacagttCgtactgttgtctggtcctgt	11	8	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr6:139265136C>T	ENST00000450536.2	-	6	1344	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	REPS1_ENST00000415951.2_Missense_Mutation_p.R257Q|REPS1_ENST00000409812.2_Missense_Mutation_p.R257Q|REPS1_ENST00000258062.5_Missense_Mutation_p.R257Q|REPS1_ENST00000367663.4_Missense_Mutation_p.R257Q			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	257					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R205Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGCTACAGTTCGTACTGTTGT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											142	125	131					6																	139265136		2203	4300	6503	SO:0001583	missense	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.770G>A	6.37:g.139265136C>T	ENSP00000392065:p.Arg257Gln		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R257Q	ENST00000450536.2	37	c.770		6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825803	0.90955	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.31769	1.49;1.49;1.52;1.52;1.48;1.49	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.79784	0.993;0.99;0.728;0.978	T	0.01557	-1.1325	10	0.13853	T	0.58	-10.7386	20.5211	0.99222	0.0:1.0:0.0:0.0	.	257;257;257;257	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	Q	257;257;243;257;257;257;205	ENSP00000392065:R257Q;ENSP00000356635:R257Q;ENSP00000434251:R243Q;ENSP00000386699:R257Q;ENSP00000258062:R257Q;ENSP00000397941:R257Q	ENSP00000258062:R257Q	R	-	2	0	REPS1	139306829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.861000	0.98227	0.650000	0.86243	CGA	REPS1	-	NULL		0.353	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	C			139265136	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139265136	C	T	139265136	3	4	139	1	0	0	0	0	1	0	0	0	13258	884	31	1	1680	1	REPS1	6	139265136	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	54947711	139265136	31849931	45	22893										
POU6F2	11281	genome.wustl.edu	37	chr7	39446223	39446223	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttaataatccactagcaagtCaggctgcagcggctgcagca	10	11	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:39446223C>T	ENST00000403058.1	+	7	1064	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	POU6F2-AS1_ENST00000433519.1_RNA|POU6F2_ENST00000559001.1_Intron|POU6F2_ENST00000518318.2_Nonsense_Mutation_p.Q304*	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	304	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTAGCAAGTCAGGCTGCAGC	0.532																																																	0													50	52	51					7																	39446223		2203	4300	6503	SO:0001587	stop_gained	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.910C>T	7.37:g.39446223C>T	ENSP00000384004:p.Gln304*		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.Q304*	ENST00000403058.1	37	c.910	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	39	7.560132	0.98358	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	6.17	6.17	0.99709	.	572.188000	0.00166	U	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000384004:Q304X	Q	+	1	0	POU6F2	39412748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.465000	0.80898	2.941000	0.99782	0.655000	0.94253	CAG	POU6F2	-	NULL		0.532	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	C	NM_007252		39446223	1	no_errors	ENST00000403058	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	39446223	C	T	39446223	4	4	139	1	0	0	0	0	0	1	0	0	12309	827	29	1	932	1	POU6F2	7	39446223	Nonsense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		39446223	119692440	46	22894										
CAMK2B	816	genome.wustl.edu	37	chr7	44283089	44283089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	agtctgccagcttcactgcaGcccctttgcacttgctggcc	9	16	2	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:44283089G>T	ENST00000395749.2	-	7	528	c.452C>A	c.(451-453)gCt>gAt	p.A151D	CAMK2B_ENST00000502837.2_Missense_Mutation_p.A22D|CAMK2B_ENST00000395747.2_Missense_Mutation_p.A151D|CAMK2B_ENST00000440254.2_Missense_Mutation_p.A151D|CAMK2B_ENST00000350811.3_Missense_Mutation_p.A151D|CAMK2B_ENST00000258682.6_Missense_Mutation_p.A151D|CAMK2B_ENST00000457475.1_Missense_Mutation_p.A151D|CAMK2B_ENST00000358707.3_Missense_Mutation_p.A151D|CAMK2B_ENST00000346990.4_Missense_Mutation_p.A151D|CAMK2B_ENST00000353625.4_Missense_Mutation_p.A151D|CAMK2B_ENST00000347193.4_Missense_Mutation_p.A151D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CTTCACTGCAGCCCCTTTGCA	0.597																																																	0													104	89	94					7																	44283089		2203	4300	6503	SO:0001583	missense	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.452C>A	7.37:g.44283089G>T	ENSP00000379098:p.Ala151Asp		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.A151D	ENST00000395749.2	37	c.452	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781492	0.90282	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747;ENST00000415369;ENST00000424197	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.24;-0.23;-0.22;0.47;-0.24;-0.25;-0.24;-0.25;-0.46;-0.23;-0.23;0.59;0.54	4.13	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72486	0.3466	L	0.27944	0.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.995;1.0;0.999;0.998;0.988;1.0;1.0	T	0.77373	-0.2612	9	0.87932	D	0	.	16.2039	0.82108	0.0:0.0:1.0:0.0	.	151;151;151;151;151;151;151;151;151	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	D	151;151;151;22;151;151;151;151;151;151;151;167;163	ENSP00000326375:A151D;ENSP00000390292:A151D;ENSP00000379098:A151D;ENSP00000422416:A22D;ENSP00000397937:A151D;ENSP00000351542:A151D;ENSP00000326427:A151D;ENSP00000326544:A151D;ENSP00000326518:A151D;ENSP00000258682:A151D;ENSP00000379096:A151D;ENSP00000390419:A167D;ENSP00000400387:A163D	ENSP00000258682:A151D	A	-	2	0	CAMK2B	44249614	1.000000	0.71417	0.913000	0.36048	0.749000	0.42624	7.598000	0.82745	2.132000	0.65825	0.650000	0.86243	GCT	CAMK2B	-	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		0.597	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44283089	-1	no_errors	ENST00000395749	ensembl	human	known	70_37	missense	SNP	0.999	T	T	44283089	G	T	44283089	3	4	139	1	0	0	0	0	1	0	0	0	2605	971	34	4	1619	4	CAMK2B	7	44283089	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	4836866	44283089	114855574	47	22895										
WBSCR17	64409	genome.wustl.edu	37	chr7	70597904	70597904	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ggtgcgcagcggagacgcctTccacgagatccggccgcgcg	16	15	0	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:70597904T>G	ENST00000333538.5	+	1	750	c.116T>G	c.(115-117)tTc>tGc	p.F39C		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	39					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAGACGCCTTCCACGAGATC	0.667																																																	0													40	38	39					7																	70597904		2203	4298	6501	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.116T>G	7.37:g.70597904T>G	ENSP00000329654:p.Phe39Cys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F39C	ENST00000333538.5	37	c.116	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058351	0.55325	.	.	ENSG00000185274	ENST00000333538	T	0.54866	0.55	4.72	4.72	0.59763	.	0.837123	0.10330	N	0.687659	T	0.40067	0.1102	N	0.22421	0.69	0.35222	D	0.776126	P	0.48640	0.913	B	0.40741	0.339	T	0.49093	-0.8975	10	0.52906	T	0.07	.	10.1537	0.42809	0.1491:0.0:0.0:0.8509	.	39	Q6IS24	GLTL3_HUMAN	C	39	ENSP00000329654:F39C	ENSP00000329654:F39C	F	+	2	0	WBSCR17	70235840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.725000	0.47294	1.981000	0.57761	0.383000	0.25322	TTC	WBSCR17	-	NULL		0.667	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	T	NM_022479		70597904	1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70597904	T	G	70597904	3	3	139	1	0	0	0	0	1	0	0	0	17295	1783	62	5	118	5	WBSCR17	7	70597904	Missense_Mutation	SNP	T	TCGA-FU-A5XV-01A-11D-A28B-09	26314815	70597904	88540759	48	22896										
TRIM50	135892	genome.wustl.edu	37	chr7	72732856	72732856	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gtggtcctcattgccgaactGttccagcacacactcggctt	9	14	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:72732856G>A	ENST00000333149.2	-	4	891	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	TRIM50_ENST00000453152.1_Nonsense_Mutation_p.Q231*	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	231						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TTGCCGAACTGTTCCAGCACA	0.667																																																	0													129	119	122					7																	72732856		2203	4300	6503	SO:0001587	stop_gained	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.691C>T	7.37:g.72732856G>A	ENSP00000327994:p.Gln231*		Q86XT3	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q231*	ENST00000333149.2	37	c.691	CCDS34654.1	7	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832950	0.71258	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	.	.	.	4.36	3.47	0.39725	.	0.606358	0.14813	N	0.296918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.5283	0.27668	0.0:0.1462:0.5548:0.2991	.	.	.	.	X	231	.	ENSP00000327994:Q231X	Q	-	1	0	TRIM50	72370792	0.995000	0.38212	0.995000	0.50966	0.088000	0.18126	1.937000	0.40193	1.047000	0.40274	-0.437000	0.05841	CAG	TRIM50	-	NULL		0.667	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	G	NM_178125		72732856	-1	no_errors	ENST00000333149	ensembl	human	known	70_37	nonsense	SNP	0.963	A	A	72732856	G	A	72732856	4	1	139	1	0	0	0	0	0	1	0	0	16557	1386	48	4	788	4	TRIM50	7	72732856	Nonsense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	2134952	72732856	86405807	49	22897										
EPHB4	2050	genome.wustl.edu	37	chr7	100401197	100401197	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgtcccgccagagtgactccGattcggagcaggtccctgca	12	14	0	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:100401197G>A	ENST00000358173.3	-	17	3318	c.2850C>T	c.(2848-2850)atC>atT	p.I950I	EPHB4_ENST00000360620.3_Silent_p.I898I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	950	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGTGACTCCGATTCGGAGCA	0.617																																					GBM(200;2113 3072 25865 52728)												0													33	34	33					7																	100401197		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2850C>T	7.37:g.100401197G>A			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I950	ENST00000358173.3	37	c.2850	CCDS5706.1	7																																																																																			EPHB4	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM		0.617	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100401197	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	0.984	A	A	100401197	G	A	100401197	2	1	139	1	0	0	0	0	0	0	0	1	5189	1048	37	1		1	EPHB4	7	100401197	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	27668341	100401197	58737466	50	22898										
RELN	5649	genome.wustl.edu	37	chr7	103143563	103143563	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	acttccagagcattttgggtCagcaggcaagcactgaggga	13	9	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:103143563C>T	ENST00000428762.1	-	52	8548	c.8389G>A	c.(8389-8391)Gac>Aac	p.D2797N	RELN_ENST00000343529.5_Missense_Mutation_p.D2797N|RELN_ENST00000424685.2_Missense_Mutation_p.D2797N|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2797					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATTTTGGGTCAGCAGGCAAG	0.438																																					NSCLC(146;835 1944 15585 22231 52158)												0													89	85	86					7																	103143563		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8389G>A	7.37:g.103143563C>T	ENSP00000392423:p.Asp2797Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D2797N	ENST00000428762.1	37	c.8389	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042524	0.55003	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.20069	2.1;2.1;2.1	5.23	5.23	0.72850	Neuraminidase (3);	0.133483	0.56097	D	0.000037	T	0.15046	0.0363	N	0.19112	0.55	0.53005	D	0.999961	B;B	0.20052	0.041;0.001	B;B	0.23419	0.046;0.005	T	0.07385	-1.0775	10	0.31617	T	0.26	.	13.1617	0.59548	0.0:0.9236:0.0:0.0764	.	2797;2797	P78509-2;P78509	.;RELN_HUMAN	N	2797;2797;2797;314;2797	ENSP00000392423:D2797N;ENSP00000345694:D2797N;ENSP00000388446:D2797N	ENSP00000345694:D2797N	D	-	1	0	RELN	102930799	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	5.461000	0.66699	2.433000	0.82419	0.655000	0.94253	GAC	RELN	-	superfamily_Neuraminidase		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103143563	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	0.999	T	T	103143563	C	T	103143563	3	4	139	1	0	0	0	0	1	0	0	0	13250	826	29	1	2049	1	RELN	7	103143563	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	2742366	103143563	55995100	51	22899										
RELN	5649	genome.wustl.edu	37	chr7	103270624	103270624	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gtagttctacggagattattCtagagaaaaaaaaaaagtca	8	4	3	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr7:103270624C>G	ENST00000428762.1	-	20	2625		c.e20-1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGATTATTCTAGAGAAAAA	0.338																																					NSCLC(146;835 1944 15585 22231 52158)												0													54	59	57					7																	103270624		2201	4300	6501	SO:0001630	splice_region_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2466-1G>C	7.37:g.103270624C>G			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	-	e20-1	ENST00000428762.1	37	c.2466-1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452565	0.63290	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103057860	1.000000	0.71417	0.999000	0.59377	0.728000	0.41692	7.030000	0.76484	2.814000	0.96858	0.591000	0.81541	.	RELN	-	-		0.338	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045	Intron	103270624	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	103270624	C	G	103270624	5	3	139	1	0	0	0	0	0	0	1	0	13250	927	32	1	8101	1	RELN	7	103270624	Splice_Site	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	127061	103270624	55868039	52	22900										
ENTPD4	9583	genome.wustl.edu	37	chr8	23294733	23294733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gtaggcaggggtccaagtacGgcatatcaggagtcagacca	14	9	2	1	rs372875344		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr8:23294733G>A	ENST00000358689.4	-	10	1323	c.1088C>T	c.(1087-1089)cCg>cTg	p.P363L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.P355L|ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000417069.2_Missense_Mutation_p.P355L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	363					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCCAAGTACGGCATATCAGG	0.468																																																	0								G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	101	82	89		1064,1088	5.6	0.3	8		89	0,8600		0,0,4300	no	missense,missense	ENTPD4	NM_001128930.2,NM_004901.4	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	355/609,363/617	23294733	1,13005	2203	4300	6503	SO:0001583	missense	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1088C>T	8.37:g.23294733G>A	ENSP00000351520:p.Pro363Leu		D3DSS3|O15092	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.P363L	ENST00000358689.4	37	c.1088	CCDS6041.1	8	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154778	0.57259	2.27E-4	0.0	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.10288	2.89;2.89;2.89	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	M	0.67569	2.06	0.80722	D	1	P;P;P	0.50710	0.894;0.938;0.806	B;B;B	0.40444	0.273;0.329;0.313	T	0.13845	-1.0494	10	0.16420	T	0.52	-15.4523	18.0994	0.89500	0.0:0.0:1.0:0.0	.	355;355;363	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	L	355;363;355	ENSP00000348536:P355L;ENSP00000351520:P363L;ENSP00000408573:P355L	ENSP00000348536:P355L	P	-	2	0	ENTPD4	23350678	1.000000	0.71417	0.311000	0.25182	0.363000	0.29612	7.632000	0.83247	2.624000	0.88883	0.313000	0.20887	CCG	ENTPD4	-	pfam_GDA1_CD39_NTPase		0.468	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	G	NM_004901		23294733	-1	no_errors	ENST00000358689	ensembl	human	known	70_37	missense	SNP	0.999	A	A	23294733	G	A	23294733	3	1	139	1	0	0	0	0	1	0	0	0	5153	1116	39	2	778	2	ENTPD4	8	23294733	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		23294733	123069289	53	22901										
FAM92A1	137392	genome.wustl.edu	37	chr8	94740501	94740503	+	In_Frame_Del	DEL	AGA	AGA	-													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gatgacgagttagatgttacAgaagaagaaaattttcttaa					rs147392141	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr8:94740501_94740503delAGA	ENST00000518322.1	+	9	987_989	c.846_848delAGA	c.(844-849)acagaa>aca	p.E285del	FAM92A1_ENST00000517718.1_In_Frame_Del_p.E130del|FAM92A1_ENST00000423990.2_In_Frame_Del_p.E247del|RBM12B_ENST00000520961.1_5'Flank|FAM92A1_ENST00000520363.1_3'UTR	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	285										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TAGATGTTACAGAAGAAGAAAAT	0.305														177	0.0353435	0.1271	0.013	5008	,	,		16990	0		0	False		,,,				2504	0																0										400,3152		26,348,1402						5.2	1		dbSNP_134	93	7,7819		0,7,3906	no	coding	FAM92A1	NM_145269.3		26,355,5308	A1A1,A1R,RR		0.0894,11.2613,3.5771				407,10971				SO:0001651	inframe_deletion	137392				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.846_848delAGA	8.37:g.94740507_94740509delAGA	ENSP00000429367:p.Glu285del		A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	In_Frame_Del	DEL	pfam_FAM92	p.E285in_frame_del	ENST00000518322.1	37	c.846_848	CCDS47892.1	8																																																																																			FAM92A1	-	NULL		0.305	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92A1	HGNC	protein_coding	OTTHUMT00000377890.4	AGA	NM_145269		94740503	1	no_errors	ENST00000518322	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	94740503	AGA	-	94740501	7	5	139	1	0	1	0	1	0	0	0	0	5670	175	7	0	876	0	FAM92A1	8	94740501	In_Frame_Del	DEL	AGA	TCGA-FU-A5XV-01A-11D-A28B-09	71445768	94740501	51623521	54	22902										
KLHL38	340359	genome.wustl.edu	37	chr8	124664263	124664263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctgtttgctgtacagtaggaCgtccctggtggtctgctggc	14	10	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr8:124664263C>T	ENST00000325995.7	-	1	927	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	302								p.V302F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TACAGTAGGACGTCCCTGGTG	0.552																																																	1	Substitution - Missense(1)	lung(1)											97	101	99					8																	124664263		2039	4193	6232	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.904G>A	8.37:g.124664263C>T	ENSP00000321475:p.Val302Ile		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V302I	ENST00000325995.7	37	c.904	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224344	0.58668	.	.	ENSG00000175946	ENST00000325995	T	0.66815	-0.23	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.052539	0.85682	D	0.000000	T	0.73860	0.3641	M	0.85197	2.74	0.46416	D	0.999032	D	0.57257	0.979	P	0.44597	0.454	T	0.77792	-0.2455	10	0.38643	T	0.18	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	302	Q2WGJ6	KLH38_HUMAN	I	302	ENSP00000321475:V302I	ENSP00000321475:V302I	V	-	1	0	KLHL38	124733444	1.000000	0.71417	0.714000	0.30535	0.385000	0.30292	7.729000	0.84864	2.571000	0.86741	0.561000	0.74099	GTC	KLHL38	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124664263	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	missense	SNP	0.998	T	T	124664263	C	T	124664263	3	4	139	1	0	0	0	0	1	0	0	0	8410	536	19	2	853	2	KLHL38	8	124664263	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	29923762	124664263	21699759	55	22903										
C9orf68	55064	genome.wustl.edu	37	chr9	4661977	4661977	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gtctccaggtactgattcatGaggtagaccccgaggtacac	11	11	2	3	rs386731946|rs186090330	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:4661977G>C	ENST00000454239.2	-	3	344	c.99C>G	c.(97-99)ctC>ctG	p.L33L	SPATA6L_ENST00000475086.1_Silent_p.L33L|SPATA6L_ENST00000381890.5_Silent_p.L33L|SPATA6L_ENST00000223517.5_5'UTR|PPAPDC2_ENST00000381883.2_5'Flank|SPATA6L_ENST00000381895.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	33																	ACTGATTCATGAGGTAGACCC	0.443											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94	88	90					9																	4661977		1884	4115	5999	SO:0001819	synonymous_variant	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.99C>G	9.37:g.4661977G>C		620	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	NULL	p.L33	ENST00000454239.2	37	c.99		9																																																																																			SPATA6L	-	NULL		0.443	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		G	NM_017985		4661977	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	silent	SNP	0.995	C	C	4661977	G	C	4661977	2	2	139	1	0	0	0	0	0	0	0	1	2496	1277	45	1		1	C9orf68	9	4661977	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		4661977	136551454	56	22904			1	100		3	3	1065	G		6.614432e-06
C9orf68	55064	genome.wustl.edu	37	chr9	4661989	4661989	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgattcatgaggtagaccccGaggtacacatcttgtttgcc	10	10	2	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:4661989G>A	ENST00000454239.2	-	3	332	c.87C>T	c.(85-87)ctC>ctT	p.L29L	SPATA6L_ENST00000475086.1_Silent_p.L29L|SPATA6L_ENST00000381890.5_Silent_p.L29L|SPATA6L_ENST00000223517.5_5'UTR|PPAPDC2_ENST00000381883.2_5'Flank|SPATA6L_ENST00000381895.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	29																	GGTAGACCCCGAGGTACACAT	0.438											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	83	85					9																	4661989		1877	4114	5991	SO:0001819	synonymous_variant	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.87C>T	9.37:g.4661989G>A		620	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	NULL	p.L29	ENST00000454239.2	37	c.87		9																																																																																			SPATA6L	-	NULL		0.438	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		G	NM_017985		4661989	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	silent	SNP	0.545	A	A	4661989	G	A	4661989	2	1	139	1	0	0	0	0	0	0	0	1	2496	1045	37	1		1	C9orf68	9	4661989	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	12	4661989	136551442	57	22905			1	100		3	3	1065	G		6.614432e-06
PPAPDC2	403313	genome.wustl.edu	37	chr9	4663041	4663041	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	acaagggccgccctgatgtcGaggttcatcctgaaccacct	10	14	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:4663041G>C	ENST00000381883.2	+	1	744	c.666G>C	c.(664-666)tcG>tcC	p.S222S	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000454239.2_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	222						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CCCTGATGTCGAGGTTCATCC	0.632																																					Melanoma(187;1057 3809 8526)												0													98	80	86					9																	4663041		2203	4300	6503	SO:0001819	synonymous_variant	403313			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.666G>C	9.37:g.4663041G>C			B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S222	ENST00000381883.2	37	c.666	CCDS34981.1	9																																																																																			PPAPDC2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.632	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC2	HGNC	protein_coding	OTTHUMT00000051567.1	G	NM_203453		4663041	1	no_errors	ENST00000381883	ensembl	human	known	70_37	silent	SNP	0.003	C	C	4663041	G	C	4663041	2	2	139	1	0	0	0	0	0	0	0	1	12319	1045	37	1		1	PPAPDC2	9	4663041	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	1052	4663041	136550390	58	22906			1	100		3	3	1065	G		6.614432e-06
CNTLN	54875	genome.wustl.edu	37	chr9	17309221	17309221	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gagcacctcttcctttacctCaagaaagtgatccagactac	6	13	2	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:17309221C>T	ENST00000380647.3	+	8	1396	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.Q438*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.Q438*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	438					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCCTTTACCTCAAGAAAGTGA	0.343																																																	0													63	62	62					9																	17309221		1838	4087	5925	SO:0001587	stop_gained	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1312C>T	9.37:g.17309221C>T	ENSP00000370021:p.Gln438*		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q438*	ENST00000380647.3	37	c.1312	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.072618	0.93950	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	5.66	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	14.502	0.67729	0.0:0.9238:0.0:0.0762	.	.	.	.	X	438	.	ENSP00000262360:Q438X	Q	+	1	0	CNTLN	17299221	0.006000	0.16342	0.059000	0.19551	0.147000	0.21601	1.366000	0.34193	2.830000	0.97506	0.585000	0.79938	CAA	CNTLN	-	NULL		0.343	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	C	NM_017738		17309221	1	no_errors	ENST00000380647	ensembl	human	known	70_37	nonsense	SNP	0.238	T	T	17309221	C	T	17309221	4	4	139	1	0	0	0	0	0	1	0	0	3644	827	29	1	1372	1	CNTLN	9	17309221	Nonsense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	12646180	17309221	123904210	59	22907										
C9orf170	401535	genome.wustl.edu	37	chr9	89771629	89771629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctcgggaagaccatgaaaacAgccaaaataattcaaagaga	8	8	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:89771629A>G	ENST00000375941.2	+	2	397	c.310A>G	c.(310-312)Agc>Ggc	p.S104G		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	104										large_intestine(3)|lung(2)|prostate(1)	6						CCATGAAAACAGCCAAAATAA	0.413																																																	0													86	84	85					9																	89771629		2203	4300	6503	SO:0001583	missense	401535			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.310A>G	9.37:g.89771629A>G	ENSP00000365108:p.Ser104Gly			Missense_Mutation	SNP	NULL	p.S104G	ENST00000375941.2	37	c.310	CCDS35058.1	9	.	.	.	.	.	.	.	.	.	.	A	2.538	-0.306951	0.05458	.	.	ENSG00000204446	ENST00000375941	.	.	.	1.93	-0.0469	0.13845	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20405	-1.0276	8	0.87932	D	0	.	4.1877	0.10405	0.3911:0.0:0.6089:0.0	.	104	A2RU37	CI170_HUMAN	G	104	.	ENSP00000365108:S104G	S	+	1	0	C9orf170	88961449	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.113000	0.03296	-0.022000	0.13986	-0.961000	0.02630	AGC	C9orf170	-	NULL		0.413	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf170	HGNC	protein_coding	OTTHUMT00000356346.1	A	NM_001001709		89771629	1	no_errors	ENST00000375941	ensembl	human	known	70_37	missense	SNP	0.000	G	G	89771629	A	G	89771629	3	3	139	1	0	0	0	0	1	0	0	0	2474	188	7	5	316	5	C9orf170	9	89771629	Missense_Mutation	SNP	A	TCGA-FU-A5XV-01A-11D-A28B-09	72462408	89771629	51441802	60	22908										
PTPDC1	138639	genome.wustl.edu	37	chr9	96850123	96850123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctatttgcagggtcactgatAatatactggccatggcccgc	10	11	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:96850123A>G	ENST00000375360.3	+	4	605	c.265A>G	c.(265-267)Aat>Gat	p.N89D	PTPDC1_ENST00000288976.3_Missense_Mutation_p.N141D	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	89					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGTCACTGATAATATACTGGC	0.473																																																	0													161	149	153					9																	96850123		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.265A>G	9.37:g.96850123A>G	ENSP00000364509:p.Asn89Asp		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.N89D	ENST00000375360.3	37	c.265	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	8.752	0.921577	0.17982	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.60040	0.22;0.22	6.02	3.66	0.41972	.	0.362937	0.35903	N	0.002918	T	0.42539	0.1207	L	0.31120	0.905	0.09310	N	1	B;B;B;B	0.17038	0.009;0.02;0.005;0.011	B;B;B;B	0.22880	0.012;0.042;0.025;0.01	T	0.20940	-1.0260	10	0.10377	T	0.69	-5.4286	12.5576	0.56263	0.7206:0.2794:0.0:0.0	.	143;141;143;89	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	D	89;141	ENSP00000364509:N89D;ENSP00000288976:N141D	ENSP00000288976:N141D	N	+	1	0	PTPDC1	95889944	0.235000	0.23794	0.002000	0.10522	0.968000	0.65278	1.625000	0.37029	0.509000	0.28195	0.533000	0.62120	AAT	PTPDC1	-	smart_Dual-sp_phosphatase_subgr_cat		0.473	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	A	NM_177995, NM_152422		96850123	1	no_errors	ENST00000375360	ensembl	human	known	70_37	missense	SNP	0.002	G	G	96850123	A	G	96850123	3	3	139	1	0	0	0	0	1	0	0	0	12801	362	13	5	517	5	PTPDC1	9	96850123	Missense_Mutation	SNP	A	TCGA-FU-A5XV-01A-11D-A28B-09	7078494	96850123	44363308	61	22909										
SUSD1	64420	genome.wustl.edu	37	chr9	114904663	114904663	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gcagcttgaaactgtatcttCtggaacactgaagaatcctt	8	9	2	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:114904663C>G	ENST00000374270.3	-	5	815	c.643G>C	c.(643-645)Gaa>Caa	p.E215Q	SUSD1_ENST00000374263.3_Missense_Mutation_p.E215Q|SUSD1_ENST00000374264.2_Missense_Mutation_p.E215Q|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	215	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACTGTATCTTCTGGAACACTG	0.458																																																	0													140	144	143					9																	114904663		2203	4300	6503	SO:0001583	missense	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.643G>C	9.37:g.114904663C>G	ENSP00000363388:p.Glu215Gln		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.E215Q	ENST00000374270.3	37	c.643	CCDS6783.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	5.505|5.505|5.505	0.278200|0.278200|0.278200	0.10403|0.10403|0.10403	.|.|.	.|.|.	ENSG00000106868|ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000415074|ENST00000355396	T;T;T|.|.	0.24538|.|.	1.85;1.85;1.85|.|.	5.56|5.56|5.56	2.57|2.57|2.57	0.30868|0.30868|0.30868	Complement control module (2);Sushi/SCR/CCP (3);|.|.	0.324544|.|.	0.22392|.|.	N|.|.	0.060675|.|.	T|T|T	0.38746|0.38746|0.38746	0.1052|0.1052|0.1052	L|L|L	0.49699|0.49699|0.49699	1.58|1.58|1.58	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B|.|.	0.30068|.|.	0.112;0.225;0.267|.|.	B;B;B|.|.	0.29862|.|.	0.032;0.066;0.108|.|.	T|T|T	0.26087|0.26087|0.26087	-1.0113|-1.0113|-1.0113	10|5|5	0.17369|.|.	T|.|.	0.5|.|.	-8.901|-8.901|-8.901	5.206|5.206|5.206	0.15291|0.15291|0.15291	0.0:0.5461:0.1438:0.3101|0.0:0.5461:0.1438:0.3101|0.0:0.5461:0.1438:0.3101	.|.|.	215;215;215|.|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.|.	.;.;SUSD1_HUMAN|.|.	Q|H|T	215|28|198	ENSP00000363388:E215Q;ENSP00000363381:E215Q;ENSP00000363382:E215Q|.|.	ENSP00000363381:E215Q|.|.	E|Q|R	-|-|-	1|3|2	0|2|0	SUSD1|SUSD1|SUSD1	113944484|113944484|113944484	0.003000|0.003000|0.003000	0.15002|0.15002|0.15002	0.003000|0.003000|0.003000	0.11579|0.11579|0.11579	0.043000|0.043000|0.043000	0.13939|0.13939|0.13939	1.403000|1.403000|1.403000	0.34612|0.34612|0.34612	0.828000|0.828000|0.828000	0.34709|0.34709|0.34709	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|CAG|AGA	SUSD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.458	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	C	NM_022486		114904663	-1	no_errors	ENST00000374264	ensembl	human	known	70_37	missense	SNP	0.001	G	G	114904663	C	G	114904663	3	3	139	1	0	0	0	0	1	0	0	0	15437	922	32	1	1652	1	SUSD1	9	114904663	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	18054540	114904663	26308768	62	22910										
PRPF4	9128	genome.wustl.edu	37	chr9	116039003	116039003	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tggaaatattaatataacctCtggtaagatgcaaattgtga	8	4	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:116039003C>T	ENST00000374198.4	+	2	308	c.206C>T	c.(205-207)tCt>tTt	p.S69F	CDC26_ENST00000374206.3_5'Flank|CDC26_ENST00000490408.1_5'Flank|PRPF4_ENST00000374199.4_Missense_Mutation_p.S68F	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	69					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AATATAACCTCTGGTAAGATG	0.383																																																	0													137	153	147					9																	116039003		2203	4300	6503	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.206C>T	9.37:g.116039003C>T	ENSP00000363313:p.Ser69Phe		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S69F	ENST00000374198.4	37	c.206	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722562	0.68959	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.64260	-0.09;-0.04	5.97	5.97	0.96955	.	0.577475	0.18001	N	0.154896	T	0.60444	0.2269	L	0.48642	1.525	0.51482	D	0.999926	D;P	0.56035	0.974;0.907	P;P	0.45167	0.472;0.472	T	0.63829	-0.6548	10	0.66056	D	0.02	.	13.9152	0.63893	0.0:0.7531:0.2468:0.0	.	84;69	Q59EL4;O43172	.;PRP4_HUMAN	F	68;69	ENSP00000363315:S68F;ENSP00000363313:S69F	ENSP00000363313:S69F	S	+	2	0	PRPF4	115078824	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.051000	0.49885	2.838000	0.97847	0.561000	0.74099	TCT	PRPF4	-	NULL		0.383	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	C	NM_004697		116039003	1	no_errors	ENST00000374198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116039003	C	T	116039003	3	4	139	1	0	0	0	0	1	0	0	0	12597	913	32	1	212	1	PRPF4	9	116039003	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	1134340	116039003	25174428	63	22911										
SPTAN1	6709	genome.wustl.edu	37	chr9	131386727	131386727	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	atgagaactcggccttccttCagttcaactggaaggcggac	11	11	2	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:131386727C>T	ENST00000372731.4	+	45	6048	c.5938C>T	c.(5938-5940)Cag>Tag	p.Q1980*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q1985*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q1985*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1980					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCCTTCCTTCAGTTCAACTG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)												0													68	56	60					9																	131386727		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5938C>T	9.37:g.131386727C>T	ENSP00000361816:p.Gln1980*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.Q1985*	ENST00000372731.4	37	c.5953	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	47	13.709379	0.99758	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.5707	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	1985;1980;1985;1960;229	.	ENSP00000350882:Q1985X	Q	+	1	0	SPTAN1	130426548	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.445000	0.80570	2.709000	0.92574	0.655000	0.94253	CAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131386727	1	no_errors	ENST00000358161	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131386727	C	T	131386727	4	4	139	1	0	0	0	0	0	1	0	0	15147	827	29	1	6131	1	SPTAN1	9	131386727	Nonsense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	15347724	131386727	9826704	64	22912										
RNF208	727800	genome.wustl.edu	37	chr9	140114971	140114971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ggtctggtagcagctgccctCgggctcagccccccactgac	12	17	2	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr9:140114971C>T	ENST00000392827.1	-	2	862	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RNF208_ENST00000391553.1_Missense_Mutation_p.E232K			Q9H0X6	RN208_HUMAN	ring finger protein 208	232					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CAGCTGCCCTCGGGCTCAGCC	0.697																																																	0													17	19	18					9																	140114971		2166	4279	6445	SO:0001583	missense	727800			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.694G>A	9.37:g.140114971C>T	ENSP00000376572:p.Glu232Lys		A2BFA0	Missense_Mutation	SNP	pfscan_Znf_RING	p.E232K	ENST00000392827.1	37	c.694	CCDS7037.2	9	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012261	0.54468	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.30714	1.52;1.52	4.22	4.22	0.49857	.	0.062964	0.64402	D	0.000011	T	0.18257	0.0438	N	0.24115	0.695	0.38373	D	0.944929	B	0.24483	0.104	B	0.15870	0.014	T	0.09640	-1.0665	10	0.28530	T	0.3	-2.7182	9.1648	0.37046	0.0:0.8976:0.0:0.1024	.	232	Q9H0X6	RN208_HUMAN	K	232	ENSP00000376572:E232K;ENSP00000375397:E232K	ENSP00000375397:E232K	E	-	1	0	RNF208	139234792	0.998000	0.40836	0.979000	0.43373	0.776000	0.43924	3.901000	0.56303	2.169000	0.68431	0.491000	0.48974	GAG	RNF208	-	NULL		0.697	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF208	HGNC	protein_coding	OTTHUMT00000254714.1	C	NM_031297		140114971	-1	no_errors	ENST00000391553	ensembl	human	known	70_37	missense	SNP	0.996	T	T	140114971	C	T	140114971	3	4	139	1	0	0	0	0	1	0	0	0	13505	893	31	1	95	1	RNF208	9	140114971	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	8728244	140114971	1098460	65	22913										
NMT2	9397	genome.wustl.edu	37	chr10	15151806	15151806	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aagaatgtcttattttccatCaaatccagtgcattgaatac	5	8	2	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:15151806C>G	ENST00000378165.4	-	11	1451	c.1371G>C	c.(1369-1371)ttG>ttC	p.L457F	NMT2_ENST00000540259.1_Missense_Mutation_p.L269F|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L444F|NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.L444F	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	457					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TATTTTCCATCAAATCCAGTG	0.328																																					Melanoma(117;1345 1645 4130 12688 30625)												0													116	116	116					10																	15151806		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1371G>C	10.37:g.15151806C>G	ENSP00000367407:p.Leu457Phe		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.L488F	ENST00000378165.4	37	c.1464	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320401	0.60634	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.52526	0.66	5.51	3.66	0.41972	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71922	-0.4446	10	0.87932	D	0	-18.37	8.6025	0.33754	0.0:0.6887:0.0:0.3113	.	444;457	Q5VUC6;O60551	.;NMT2_HUMAN	F	21;457;444;488;269;444	ENSP00000367407:L457F	ENSP00000367385:L488F	L	-	3	2	NMT2	15191812	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.498000	0.22530	0.813000	0.34350	0.655000	0.94253	TTG	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.328	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	C	NM_004808		15151806	-1	no_errors	ENST00000378143	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15151806	C	G	15151806	3	3	139	1	0	0	0	0	1	0	0	0	10528	825	29	1	133	1	NMT2	10	15151806	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		15151806	120382941	66	22914										
ZWINT	11130	genome.wustl.edu	37	chr10	58118352	58118352	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	agggtctctccccatggtgtCtcctgtactctgctcctggg	11	14	3	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:58118352C>T	ENST00000373944.3	-	7	795	c.757G>A	c.(757-759)Gac>Aac	p.D253N	ZWINT_ENST00000318387.2_Missense_Mutation_p.D133N|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Missense_Mutation_p.D206N|ZWINT_ENST00000395405.1_Missense_Mutation_p.D253N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	253					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CCCATGGTGTCTCCTGTACTC	0.572																																																	0													103	98	99					10																	58118352		2203	4300	6503	SO:0001583	missense	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.757G>A	10.37:g.58118352C>T	ENSP00000363055:p.Asp253Asn		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	NULL	p.D253N	ENST00000373944.3	37	c.757	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280631	0.59758	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.16	0.0334	0.14179	.	0.648638	0.13573	N	0.377911	T	0.36276	0.0961	L	0.27053	0.805	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.29785	0.107;0.066	T	0.19549	-1.0302	10	0.24483	T	0.36	-34.4169	1.1786	0.01841	0.1805:0.4414:0.1755:0.2026	.	206;253	A6NNV6;O95229	.;ZWINT_HUMAN	N	253;253;133;206	ENSP00000363055:D253N;ENSP00000378801:D253N;ENSP00000322850:D133N;ENSP00000354921:D206N	ENSP00000322850:D133N	D	-	1	0	ZWINT	57788358	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.150000	0.16263	0.012000	0.14892	0.563000	0.77884	GAC	ZWINT	-	NULL		0.572	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	C			58118352	-1	no_errors	ENST00000373944	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58118352	C	T	58118352	3	4	139	1	0	0	0	0	1	0	0	0	18279	913	32	1	84	1	ZWINT	10	58118352	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	42966546	58118352	77416395	67	22915										
LGI1	9211	genome.wustl.edu	37	chr10	95518033	95518033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gcgaagccaaaatgccctgcCgtgtgtacttgtaccaaaga	10	11	0	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:95518033C>T	ENST00000371418.4	+	1	392	c.132C>T	c.(130-132)gcC>gcT	p.A44A	LGI1_ENST00000542308.1_Silent_p.A44A|LGI1_ENST00000371413.3_Silent_p.A44A|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	44	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AATGCCCTGCCGTGTGTACTT	0.458																																																	0													165	165	165					10																	95518033		2203	4300	6503	SO:0001819	synonymous_variant	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.132C>T	10.37:g.95518033C>T			A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A44	ENST00000371418.4	37	c.132	CCDS7431.1	10																																																																																			LGI1	-	NULL		0.458	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	C	NM_005097		95518033	1	no_errors	ENST00000371418	ensembl	human	known	70_37	silent	SNP	0.991	T	T	95518033	C	T	95518033	2	4	139	1	0	0	0	0	0	0	0	1	8771	639	23	2		2	LGI1	10	95518033	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	37399681	95518033	40016714	68	22916										
PLCE1	51196	genome.wustl.edu	37	chr10	96043642	96043642	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	caaagaggataaagaaagcaGataactctgcttgcaacaaa	8	7	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:96043642G>C	ENST00000371380.3	+	20	5126	c.4891G>C	c.(4891-4893)Gat>Cat	p.D1631H	PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1631H|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.D1323H|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.D1323H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1631					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGAAAGCAGATAACTCTGC	0.373																																																	0													114	112	113					10																	96043642		1873	4094	5967	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4891G>C	10.37:g.96043642G>C	ENSP00000360431:p.Asp1631His		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D1631H	ENST00000371380.3	37	c.4891	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518518	0.85495	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.39	4.47	0.54385	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.201251	0.42172	D	0.000750	T	0.54271	0.1848	N	0.19112	0.55	0.42026	D	0.991001	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63033	0.91;0.907;0.873	T	0.57394	-0.7819	10	0.54805	T	0.06	.	13.5548	0.61754	0.076:0.0:0.924:0.0	.	1615;1323;1631	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	H	1631;1631;1323;1323	ENSP00000260766:D1631H;ENSP00000360431:D1631H;ENSP00000360438:D1323H;ENSP00000360426:D1323H	ENSP00000260766:D1631H	D	+	1	0	PLCE1	96033632	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.323000	0.79105	2.700000	0.92200	0.561000	0.74099	GAT	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96043642	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96043642	G	C	96043642	3	2	139	1	0	0	0	0	1	0	0	0	12058	942	33	1	5255	1	PLCE1	10	96043642	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	525609	96043642	39491105	69	22917										
CYP2C19	1557	genome.wustl.edu	37	chr10	96580375	96580375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tatgctctccttctcctgctGaagcacccagaggtcacagg	9	14	3	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:96580375G>A	ENST00000371321.3	+	6	1024	c.942G>A	c.(940-942)ctG>ctA	p.L314L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	314					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTCTCCTGCTGAAGCACCCAG	0.448																																																	0													180	163	169					10																	96580375		2203	4300	6503	SO:0001819	synonymous_variant	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.942G>A	10.37:g.96580375G>A			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L314	ENST00000371321.3	37	c.942	CCDS7436.1	10																																																																																			CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450		0.448	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	G	NM_000769		96580375	1	no_errors	ENST00000371321	ensembl	human	known	70_37	silent	SNP	0.879	A	A	96580375	G	A	96580375	2	1	139	1	0	0	0	0	0	0	0	1	4171	1277	45	1		1	CYP2C19	10	96580375	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	536733	96580375	38954372	70	22918										
AS3MT	57412	genome.wustl.edu	37	chr10	104632312	104632312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgtacttagccagctggttgGtgaaaaaggacacgtgactg	13	7	0	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr10:104632312G>T	ENST00000369880.3	+	4	355	c.278G>T	c.(277-279)gGt>gTt	p.G93V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	93					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CAGCTGGTTGGTGAAAAAGGA	0.448																																																	0													106	106	106					10																	104632312		1944	4158	6102	SO:0001583	missense	57412			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.278G>T	10.37:g.104632312G>T	ENSP00000358896:p.Gly93Val		A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel	p.G93V	ENST00000369880.3	37	c.278	CCDS41567.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019571	0.75275	.	.	ENSG00000214435	ENST00000369880	T	0.39406	1.08	5.44	3.56	0.40772	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.77054	-0.2730	10	0.87932	D	0	-17.8157	10.4121	0.44301	0.0749:0.1353:0.7899:0.0	.	93;93;93	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	93	ENSP00000358896:G93V	ENSP00000358896:G93V	G	+	2	0	AS3MT	104622302	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	5.861000	0.69553	0.762000	0.33152	0.561000	0.74099	GGT	AS3MT	-	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT		0.448	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	HGNC	protein_coding	OTTHUMT00000050107.1	G	NM_020682		104632312	1	no_errors	ENST00000369880	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104632312	G	T	104632312	3	4	139	1	0	0	0	0	1	0	0	0	1006	1261	44	4	292	4	AS3MT	10	104632312	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	8051937	104632312	30902435	71	22919										
NUP98	4928	genome.wustl.edu	37	chr11	3740736	3740736	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cacaatatcatccaaatttaGatttgtcaaattcacatctc	2	10	4	1	rs556807510		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:3740736G>C	ENST00000324932.7	-	18	2725	c.2305C>G	c.(2305-2307)Cta>Gta	p.L769V	NUP98_ENST00000359171.4_Missense_Mutation_p.L769V|NUP98_ENST00000397007.4_Missense_Mutation_p.L786V|NUP98_ENST00000397004.4_Missense_Mutation_p.L769V|NUP98_ENST00000355260.3_Missense_Mutation_p.L769V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	786	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCCAAATTTAGATTTGTCAAA	0.338			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													85	83	83					11																	3740736		2201	4295	6496	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2305C>G	11.37:g.3740736G>C	ENSP00000316032:p.Leu769Val		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.L769V	ENST00000324932.7	37	c.2305	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732802	0.69189	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	4.43	0.53597	.	0.078972	0.52532	D	0.000064	T	0.48537	0.1505	L	0.39898	1.24	0.44976	D	0.997995	P;P;D;P	0.57571	0.899;0.899;0.98;0.933	B;B;P;P	0.51101	0.325;0.325;0.659;0.586	T	0.36720	-0.9736	9	0.13108	T	0.6	.	10.6602	0.45698	0.0927:0.0:0.9073:0.0	.	786;769;769;769	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	V	769;769;769;769;786	.	ENSP00000316032:L769V	L	-	1	2	NUP98	3697312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.238000	0.32707	1.193000	0.43086	0.563000	0.77884	CTA	NUP98	-	pfam_Peptidase_S59,superfamily_Peptidase_S59		0.338	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3740736	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3740736	G	C	3740736	3	2	139	1	0	0	0	0	1	0	0	0	10797	933	33	1	3182	1	NUP98	11	3740736	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		3740736	131265780	72	22920										
SLC17A6	57084	genome.wustl.edu	37	chr11	22363305	22363305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aacaacagcaccatccaccgCgggggcaaggtcatcaagga	11	13	2	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:22363305C>T	ENST00000263160.3	+	2	755	c.318C>T	c.(316-318)cgC>cgT	p.R106R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	106					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCATCCACCGCGGGGGCAAGG	0.632																																																	0													63	53	57					11																	22363305		2203	4300	6503	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.318C>T	11.37:g.22363305C>T			A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R106	ENST00000263160.3	37	c.318	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	C	NM_020346		22363305	1	no_errors	ENST00000263160	ensembl	human	known	70_37	silent	SNP	0.636	T	T	22363305	C	T	22363305	2	4	139	1	0	0	0	0	0	0	0	1	14451	755	27	2		2	SLC17A6	11	22363305	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	18622569	22363305	112643211	73	22921										
DTX4	23220	genome.wustl.edu	37	chr11	58956669	58956669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctcatgagtgcagcggggctGcctgtgtgtctcaccaggcc	14	13	2	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:58956669G>A	ENST00000227451.3	+	4	1136	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	DTX4_ENST00000532982.1_Silent_p.L238L|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	344					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCGGGGCTGCCTGTGTGTC	0.557																																																	0													33	38	36					11																	58956669		1943	4137	6080	SO:0001819	synonymous_variant	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1032G>A	11.37:g.58956669G>A			Q0VF38	Silent	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L344	ENST00000227451.3	37	c.1032	CCDS44612.1	11																																																																																			DTX4	-	NULL		0.557	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1	G	XM_166213		58956669	1	no_errors	ENST00000227451	ensembl	human	known	70_37	silent	SNP	1.000	A	A	58956669	G	A	58956669	2	1	139	1	0	0	0	0	0	0	0	1	4807	1306	46	4		4	DTX4	11	58956669	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	36593364	58956669	76049847	74	22922										
C2CD3	26005	genome.wustl.edu	37	chr11	73849868	73849868	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ggctggaattcagaactgttCagaagggacatctgcttccg	12	9	3	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:73849868C>G	ENST00000334126.7	-	5	1078	c.852G>C	c.(850-852)ctG>ctC	p.L284L	C2CD3_ENST00000539061.1_Silent_p.L284L|C2CD3_ENST00000313663.7_Silent_p.L284L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	284					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGAACTGTTCAGAAGGGACA	0.438																																																	0													142	125	131					11																	73849868		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.852G>C	11.37:g.73849868C>G			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L284	ENST00000334126.7	37	c.852		11																																																																																			C2CD3	-	NULL		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73849868	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	silent	SNP	0.998	G	G	73849868	C	G	73849868	2	3	139	1	0	0	0	0	0	0	0	1	2159	813	29	1		1	C2CD3	11	73849868	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	14893199	73849868	61156648	75	22923										
MLL	4297	genome.wustl.edu	37	chr11	118390460	118390461	+	Frame_Shift_Ins	INS	-	-	C													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	agccagaggaggccaatgaaINSccccccttgaaccctcacgg							TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr11:118390460_118390461insC	ENST00000389506.5	+	32	11265_11266	c.11265_11266insC	c.(11266-11268)cccfs	p.P3756fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P3718fs|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.P3759fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3756					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGCCAATGAACCCCCCTTGAA	0.5																																																	0																																										SO:0001589	frameshift_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11271dupC	11.37:g.118390466_118390466dupC	ENSP00000374157:p.Pro3756fs		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.N3758fs	ENST00000389506.5	37	c.11265_11266	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax		0.5	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	-	NM_005933		118390461	1	no_errors	ENST00000389506	ensembl	human	known	70_37	frame_shift_ins	INS	0.991:1.000	C	C	118390461	-	C	118390460	7	5	139	1	0	1	1	0	0	0	0	0	9643	40	2	0	11391	0	MLL	11	118390460	Frame_Shift_Ins	INS	-	TCGA-FU-A5XV-01A-11D-A28B-09	44540592	118390460	16616056	76	22924										
CD163L1	283316	genome.wustl.edu	37	chr12	7526002	7526002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	actgccatatggagatatgcGttttaggacactgaatgtca	10	7	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:7526002G>A	ENST00000313599.3	-	14	3701	c.3644C>T	c.(3643-3645)aCg>aTg	p.T1215M	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Missense_Mutation_p.T1215M|CD163L1_ENST00000416109.2_Missense_Mutation_p.T1225M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1215	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.T1215M(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGAGATATGCGTTTTAGGACA	0.527																																																	1	Substitution - Missense(1)	large_intestine(1)											149	121	130					12																	7526002		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3644C>T	12.37:g.7526002G>A	ENSP00000315945:p.Thr1215Met		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.T1215M	ENST00000313599.3	37	c.3644	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	2.333	-0.352846	0.05173	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.37058	1.22;1.22;1.22	2.25	-4.5	0.03493	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.309370	0.06101	N	0.665345	T	0.23926	0.0579	L	0.38838	1.175	0.09310	N	1	B;B	0.21753	0.015;0.06	B;B	0.24848	0.01;0.056	T	0.13953	-1.0490	10	0.27082	T	0.32	.	3.4183	0.07384	0.5963:0.1674:0.132:0.1043	.	1225;1215	E7EVK4;Q9NR16	.;C163B_HUMAN	M	1215;1225;1215	ENSP00000315945:T1215M;ENSP00000393474:T1225M;ENSP00000379871:T1215M	ENSP00000315945:T1215M	T	-	2	0	CD163L1	7417269	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-1.169000	0.03120	-2.706000	0.00396	-0.693000	0.03709	ACG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.527	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	G	NM_174941		7526002	-1	no_errors	ENST00000313599	ensembl	human	known	70_37	missense	SNP	0.000	A	A	7526002	G	A	7526002	3	1	139	1	0	0	0	0	1	0	0	0	2973	1145	40	2	741	2	CD163L1	12	7526002	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		7526002	126325893	77	22925										
OR6C1	390321	genome.wustl.edu	37	chr12	55714417	55714417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cagaaataacagagtttattCttctgggattaacagatgac	8	6	2	4	rs377179933		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:55714417C>G	ENST00000379668.2	+	1	72	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGAGTTTATTCTTCTGGGATT	0.398																																																	0													66	68	67					12																	55714417		2203	4300	6503	SO:0001583	missense	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.34C>G	12.37:g.55714417C>G	ENSP00000368990:p.Leu12Val		B2RNM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L12V	ENST00000379668.2	37	c.34	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828658	0.50845	.	.	ENSG00000205330	ENST00000379668	T	0.00563	6.58	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000069	T	0.03136	0.0092	M	0.92459	3.31	0.28750	N	0.901468	D	0.89917	1.0	D	0.91635	0.999	T	0.02138	-1.1207	10	0.87932	D	0	.	12.5507	0.56225	0.1664:0.8336:0.0:0.0	.	12	Q96RD1	OR6C1_HUMAN	V	12	ENSP00000368990:L12V	ENSP00000368990:L12V	L	+	1	0	OR6C1	54000684	0.674000	0.27549	0.839000	0.33178	0.754000	0.42855	1.234000	0.32660	2.706000	0.92434	0.455000	0.32223	CTT	OR6C1	-	NULL		0.398	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	C	NM_001005182		55714417	1	no_errors	ENST00000379668	ensembl	human	known	70_37	missense	SNP	0.909	G	G	55714417	C	G	55714417	3	3	139	1	0	0	0	0	1	0	0	0	11214	913	32	1	36	1	OR6C1	12	55714417	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	48188415	55714417	78137478	78	22926										
ZFC3H1	196441	genome.wustl.edu	37	chr12	72030728	72030728	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	atctgcaaaaggtggttttgGaggctgttctggatcttcag	13	6	4	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:72030728G>C	ENST00000378743.3	-	8	2195	c.1837C>G	c.(1837-1839)Cca>Gca	p.P613A	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	613	Pro-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGTGGTTTTGGAGGCTGTTCT	0.453																																																	0													138	137	137					12																	72030728		1885	4126	6011	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1837C>G	12.37:g.72030728G>C	ENSP00000368017:p.Pro613Ala		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.P613A	ENST00000378743.3	37	c.1837	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677598	0.88445	.	.	ENSG00000133858	ENST00000378743	T	0.60299	0.2	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.58994	-0.7537	10	0.22109	T	0.4	.	20.0992	0.97865	0.0:0.0:1.0:0.0	.	613	O60293	ZC3H1_HUMAN	A	613	ENSP00000368017:P613A	ENSP00000368017:P613A	P	-	1	0	ZFC3H1	70316995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.466000	0.90387	2.762000	0.94881	0.467000	0.42956	CCA	ZFC3H1	-	NULL		0.453	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72030728	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72030728	G	C	72030728	3	2	139	1	0	0	0	0	1	0	0	0	17663	1174	41	1	4244	1	ZFC3H1	12	72030728	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	16316311	72030728	61821167	79	22927										
E2F7	144455	genome.wustl.edu	37	chr12	77436899	77436899	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gaaggctggtttacgacctcGctcttctgttacatgcactt	9	11	2	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:77436899G>A	ENST00000322886.7	-	7	1304	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	E2F7_ENST00000416496.2_Nonsense_Mutation_p.R357*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	357					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTACGACCTCGCTCTTCTGTT	0.458																																																	0													207	177	187					12																	77436899		2203	4300	6503	SO:0001587	stop_gained	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1069C>T	12.37:g.77436899G>A	ENSP00000323246:p.Arg357*		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Nonsense_Mutation	SNP	pfam_E2F_TDP	p.R357*	ENST00000322886.7	37	c.1069	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.233657	0.98719	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	.	.	.	5.95	5.04	0.67666	.	0.054138	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2017	13.1547	0.59509	0.0:0.0:0.7096:0.2904	.	.	.	.	X	357	.	ENSP00000323246:R357X	R	-	1	2	E2F7	75961030	0.946000	0.32159	0.982000	0.44146	0.996000	0.88848	1.543000	0.36147	1.462000	0.47948	0.563000	0.77884	CGA	E2F7	-	pfam_E2F_TDP		0.458	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	G	XM_084871		77436899	-1	no_errors	ENST00000322886	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	77436899	G	A	77436899	4	1	139	1	0	0	0	0	0	1	0	0	4882	1095	38	2	1694	2	E2F7	12	77436899	Nonsense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	5406171	77436899	56414996	80	22928										
CAMKK2	10645	genome.wustl.edu	37	chr12	121712313	121712313	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ggttgctgctgggctggctaGagacacatgatgacatggtg	16	7	0	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:121712313G>C	ENST00000324774.5	-	2	845	c.17C>G	c.(16-18)tCt>tGt	p.S6C	CAMKK2_ENST00000404169.3_Missense_Mutation_p.S6C|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S6C|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S6C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S6C|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S6C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S6C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	6					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCTGGCTAGAGACACATGA	0.662																																																	0													12	15	14					12																	121712313		2184	4248	6432	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.17C>G	12.37:g.121712313G>C	ENSP00000312741:p.Ser6Cys		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	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.S6C	ENST00000324774.5	37	c.17	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177883	0.78564	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485;ENST00000398924	T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.09;-1.11;-1.05;-1.06;-1.14;-1.06;-1.14;-1.07;-1.06;1.29;0.93	5.61	5.61	0.85477	.	0.199296	0.32120	N	0.006558	T	0.77089	0.4079	N	0.24115	0.695	0.36174	D	0.848972	D;D;D;D;D;D;D	0.67145	0.993;0.993;0.993;0.993;0.996;0.988;0.993	P;P;P;P;P;P;P	0.53360	0.724;0.724;0.724;0.724;0.724;0.533;0.724	T	0.83172	-0.0093	10	0.72032	D	0.01	15.4101	18.6113	0.91286	0.0:0.0:1.0:0.0	.	6;6;6;6;6;6;6	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	C	6	ENSP00000376266:S6C;ENSP00000321230:S6C;ENSP00000445944:S6C;ENSP00000336634:S6C;ENSP00000312741:S6C;ENSP00000388368:S6C;ENSP00000384600:S6C;ENSP00000388273:S6C;ENSP00000376265:S6C;ENSP00000444894:S6C;ENSP00000445400:S6C	ENSP00000312741:S6C	S	-	2	0	CAMKK2	120196696	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.801000	0.85960	2.643000	0.89663	0.462000	0.41574	TCT	CAMKK2	-	NULL		0.662	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	G	NM_172226		121712313	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121712313	G	C	121712313	3	2	139	1	0	0	0	0	1	0	0	0	2612	942	33	1	1823	1	CAMKK2	12	121712313	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	44275414	121712313	12139582	81	22929										
SBNO1	55206	genome.wustl.edu	37	chr12	123782609	123782609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gacagatgctagaacaccctCaacttttgtccagacactca	6	13	2	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr12:123782609C>T	ENST00000602398.1	-	31	4082	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E1318K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E1318K|SBNO1_ENST00000420886.2_Missense_Mutation_p.E1319K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1319					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGAACACCCTCAACTTTTGTC	0.443																																																	0													191	166	174					12																	123782609		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3955G>A	12.37:g.123782609C>T	ENSP00000473665:p.Glu1319Lys		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.E1319K	ENST00000602398.1	37	c.3955	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.067324	0.97251	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.82167	-1.58;-1.58	5.63	5.63	0.86233	.	0.149524	0.47852	D	0.000209	D	0.92463	0.7607	M	0.87827	2.91	0.80722	D	1	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	D	0.91941	0.5563	10	0.49607	T	0.09	-2.0132	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1319;1318	A3KN83;A3KN83-2	SBNO1_HUMAN;.	K	1319;1318	ENSP00000387361:E1319K;ENSP00000267176:E1318K	ENSP00000267176:E1318K	E	-	1	0	SBNO1	122348562	1.000000	0.71417	0.971000	0.41717	0.999000	0.98932	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GAG	SBNO1	-	NULL		0.443	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123782609	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123782609	C	T	123782609	3	4	139	1	0	0	0	0	1	0	0	0	13892	835	29	1	234	1	SBNO1	12	123782609	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	2070296	123782609	10069286	82	22930										
SLITRK1	114798	genome.wustl.edu	37	chr13	84453964	84453964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttctaaagaagttcaccggcGtctcacacttgaggtcgctc	9	12	3	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr13:84453964G>A	ENST00000377084.2	-	1	2564	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	560	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.T560M(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTCACCGGCGTCTCACACTT	0.537																																																	2	Substitution - Missense(2)	NS(1)|endometrium(1)											61	55	57					13																	84453964		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1679C>T	13.37:g.84453964G>A	ENSP00000366288:p.Thr560Met		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T560M	ENST00000377084.2	37	c.1679	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868672	0.32977	.	.	ENSG00000178235	ENST00000377084	T	0.53423	0.62	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.112873	0.64402	D	0.000008	T	0.40956	0.1138	L	0.45352	1.415	0.44432	D	0.99735	B	0.21147	0.052	B	0.23018	0.043	T	0.34800	-0.9814	10	0.66056	D	0.02	-7.8324	11.2346	0.48933	0.0852:0.0:0.9148:0.0	.	560	Q96PX8	SLIK1_HUMAN	M	560	ENSP00000366288:T560M	ENSP00000366288:T560M	T	-	2	0	SLITRK1	83351965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.603000	0.88011	0.655000	0.94253	ACG	SLITRK1	-	smart_Cys-rich_flank_reg_C		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84453964	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84453964	G	A	84453964	3	1	139	1	0	0	0	0	1	0	0	0	14772	1145	40	2	415	2	SLITRK1	13	84453964	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		84453964	30715914	83	22931										
RNASE11	122651	genome.wustl.edu	37	chr14	21052552	21052552	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctcttcgtctgtaaattcttCtttaattatcttcattgtgc	4	9	6	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:21052552C>G	ENST00000610205.1	-	3	265	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	RNASE11_ENST00000398009.2_Missense_Mutation_p.E28Q|RNASE11_ENST00000432835.2_Missense_Mutation_p.E28Q|RNASE11_ENST00000555283.1_Missense_Mutation_p.E79Q|RNASE11_ENST00000555841.1_Missense_Mutation_p.E28Q|RNASE11_ENST00000398008.2_Missense_Mutation_p.E28Q|RNASE11_ENST00000553849.1_Missense_Mutation_p.E28Q	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	28						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTAAATTCTTCTTTAATTATC	0.403																																																	0													151	144	146					14																	21052552		2203	4300	6503	SO:0001583	missense	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.82G>C	14.37:g.21052552C>G	ENSP00000476537:p.Glu28Gln			Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.E28Q	ENST00000610205.1	37	c.82	CCDS9553.1	14	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123238	0.56613	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.49139	0.8;0.8;0.8;0.8;0.8;0.8;0.79;0.79;0.83;0.8;0.81	4.2	3.31	0.37934	.	0.390781	0.18870	N	0.128865	T	0.50973	0.1647	L	0.27053	0.805	0.26541	N	0.974074	D	0.89917	1.0	D	0.74674	0.984	T	0.34279	-0.9835	10	0.87932	D	0	-0.8341	8.1982	0.31409	0.0:0.8917:0.0:0.1083	.	28	Q8TAA1	RNS11_HUMAN	Q	28	ENSP00000338288:E28Q;ENSP00000451318:E28Q;ENSP00000451563:E28Q;ENSP00000381093:E28Q;ENSP00000381092:E28Q;ENSP00000395210:E28Q;ENSP00000401398:E28Q;ENSP00000451839:E28Q;ENSP00000452412:E28Q;ENSP00000415954:E28Q;ENSP00000451466:E28Q	ENSP00000338288:E28Q	E	-	1	0	RNASE11	20122392	0.406000	0.25344	0.907000	0.35723	0.770000	0.43624	2.785000	0.47782	1.363000	0.46019	0.511000	0.50034	GAA	RNASE11	-	NULL		0.403	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE11	HGNC	protein_coding	OTTHUMT00000073662.3	C	NM_145250		21052552	-1	no_errors	ENST00000335950	ensembl	human	known	70_37	missense	SNP	0.935	G	G	21052552	C	G	21052552	3	3	139	1	0	0	0	0	1	0	0	0	13431	922	32	1	521	1	RNASE11	14	21052552	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		21052552	86296988	84	22932										
NOVA1	4857	genome.wustl.edu	37	chr14	26918010	26918011	+	Frame_Shift_Del	DEL	GT	GT	-													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	agcttttcggttttgttcagGttctccactcacagtgacaa							TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:26918010_26918011delGT	ENST00000539517.2	-	5	995_996	c.678_679delAC	c.(676-681)gaacctfs	p.EP226fs	NOVA1_ENST00000465357.2_Frame_Shift_Del_p.EP202fs|NOVA1_ENST00000267422.7_Frame_Shift_Del_p.EP104fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	229	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTTTGTTCAGGTTCTCCACTCA	0.475																																																	0																																										SO:0001589	frameshift_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.678_679delAC	14.37:g.26918010_26918011delGT	ENSP00000438875:p.Glu226fs		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E226fs	ENST00000539517.2	37	c.679_678	CCDS32061.1	14																																																																																			NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.475	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	GT	NM_006491		26918011	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	26918011	GT	-	26918010	7	5	139	1	0	1	0	1	0	0	0	0	10578	1261	44	0	848	0	NOVA1	14	26918010	Frame_Shift_Del	DEL	GT	TCGA-FU-A5XV-01A-11D-A28B-09	5865458	26918010	80431530	85	22933	125	3								
NOVA1	4857	genome.wustl.edu	37	chr14	26918012	26918013	+	Frame_Shift_Ins	INS	-	-	GACAACC													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttttcggttttgttcaggttINSctccactcacagtgacaacc					rs151215128|rs199792602		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:26918012_26918013insGACAACC	ENST00000539517.2	-	5	993_994	c.676_677insGGTTGTC	c.(676-678)gaafs	p.E226fs	NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.E202fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.E104fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	229	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGTTCAGGTTCTCCACTCACA	0.465																																																	0																																										SO:0001589	frameshift_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.676_677insGGTTGTC	14.37:g.26918012_26918013insGACAACC	ENSP00000438875:p.Glu226fs		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Ins	INS	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E226fs	ENST00000539517.2	37	c.677_676	CCDS32061.1	14																																																																																			NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.465	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	-	NM_006491		26918013	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GACAACC	GACAACC	26918013	-	GACAACC	26918012	7	5	139	1	0	1	1	0	0	0	0	0	10578	1783	62	0	850	0	NOVA1	14	26918012	Frame_Shift_Ins	INS	-	TCGA-FU-A5XV-01A-11D-A28B-09	2	26918012	80431528	86	22934	125	3								
NOVA1	4857	genome.wustl.edu	37	chr14	26918015	26918015	+	Frame_Shift_Del	DEL	C	C	-													0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttcggttttgttcaggttctCcactcacagtgacaaccctc							TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:26918015delC	ENST00000539517.2	-	5	991	c.674delG	c.(673-675)ggafs	p.G225fs	NOVA1_ENST00000465357.2_Frame_Shift_Del_p.G201fs|NOVA1_ENST00000267422.7_Frame_Shift_Del_p.G103fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	228	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTCAGGTTCTCCACTCACAGT	0.473																																																	0													228	207	214					14																	26918015		2203	4300	6503	SO:0001589	frameshift_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.674delG	14.37:g.26918015delC	ENSP00000438875:p.Gly225fs		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G225fs	ENST00000539517.2	37	c.674	CCDS32061.1	14																																																																																			NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.473	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	C	NM_006491		26918015	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	26918015	C	-	26918015	7	5	139	1	0	1	0	1	0	0	0	0	10578	855	30	0	853	0	NOVA1	14	26918015	Frame_Shift_Del	DEL	C	TCGA-FU-A5XV-01A-11D-A28B-09	3	26918015	80431525	87	22935	125	3								
MAP4K5	11183	genome.wustl.edu	37	chr14	50907112	50907112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tgcctcatgtagctcattgaGattcagtgtgtaaataccat	8	8	3	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr14:50907112G>A	ENST00000013125.4	-	22	1930	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	538	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AGCTCATTGAGATTCAGTGTG	0.284																																																	0													111	102	105					14																	50907112		1854	4095	5949	SO:0001583	missense	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1612C>T	14.37:g.50907112G>A	ENSP00000013125:p.Leu538Phe		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L538F	ENST00000013125.4	37	c.1612		14	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163436	0.78226	.	.	ENSG00000012983	ENST00000013125	T	0.05996	3.36	5.16	5.16	0.70880	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	T	0.01146	-1.1437	10	0.62326	D	0.03	.	12.8583	0.57899	0.0859:0.0:0.9141:0.0	.	212;538;538	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	F	538	ENSP00000013125:L538F	ENSP00000013125:L538F	L	-	1	0	MAP4K5	49976862	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.517000	0.60503	2.551000	0.86045	0.460000	0.39030	CTC	MAP4K5	-	pfam_Citron,smart_Citron		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	G	NM_006575		50907112	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50907112	G	A	50907112	3	1	139	1	0	0	0	0	1	0	0	0	9286	942	33	1	972	1	MAP4K5	14	50907112	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	23989097	50907112	56442428	88	22936										
HERC2	8924	genome.wustl.edu	37	chr15	28422657	28422657	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gccgtcgcgtgccggccaccTgcaacattcacagacacacg	10	17	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:28422657T>C	ENST00000261609.7	-	60	9272		c.e60-2			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCGGCCACCTGCAACATTCA	0.512																																																	0													60	53	56					15																	28422657		2203	4300	6503	SO:0001630	splice_region_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9164-2A>G	15.37:g.28422657T>C				Splice_Site	SNP	-	e59-2	ENST00000261609.7	37	c.9164-2	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728379	0.89390	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3429	0.83101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26096252	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.698000	0.74608	2.256000	0.74724	0.523000	0.50628	.	HERC2	-	-		0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667	Intron	28422657	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	28422657	T	C	28422657	5	2	139	1	0	0	0	0	0	0	1	0	7078	1594	55	5	5478	5	HERC2	15	28422657	Splice_Site	SNP	T	TCGA-FU-A5XV-01A-11D-A28B-09		28422657	74108735	89	22937										
BUB1B	701	genome.wustl.edu	37	chr15	40498657	40498657	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	actctcagcatcaagaagctGaggtgattggggatttacag	12	7	2	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr15:40498657G>C	ENST00000287598.6	+	15	2202	c.2007G>C	c.(2005-2007)ctG>ctC	p.L669L	BUB1B_ENST00000412359.3_Silent_p.L683L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	669					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCAAGAAGCTGAGGTGATTGG	0.413			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													96	103	101					15																	40498657		2203	4300	6503	SO:0001819	synonymous_variant	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2007G>C	15.37:g.40498657G>C			B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.L683	ENST00000287598.6	37	c.2049	CCDS10053.1	15																																																																																			BUB1B	-	NULL		0.413	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	G			40498657	1	no_errors	ENST00000412359	ensembl	human	known	70_37	silent	SNP	0.998	C	C	40498657	G	C	40498657	2	2	139	1	0	0	0	0	0	0	0	1	1574	1277	45	1		1	BUB1B	15	40498657	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	12076000	40498657	62032735	90	22938										
CRAMP1L	57585	genome.wustl.edu	37	chr16	1723911	1723911	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tcccagctggtgtgcatgatGaacgaaaacagcattgatta	10	8	0	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:1723911G>T	ENST00000397412.3	+	21	3774	c.3675G>T	c.(3673-3675)atG>atT	p.M1225I	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.M1222I|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.M1225I|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.M600I			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1225	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TGTGCATGATGAACGAAAACA	0.557																																																	0													119	123	122					16																	1723911		2105	4233	6338	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3675G>T	16.37:g.1723911G>T	ENSP00000380559:p.Met1225Ile		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1225I	ENST00000397412.3	37	c.3675	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010147	0.93346	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.36672	1.1	0.51233	D	0.999916	D	0.59767	0.986	D	0.70935	0.971	T	0.74144	-0.3760	9	0.87932	D	0	-33.3839	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1225	Q96RY5	CRML_HUMAN	I	1225;1225;1222;600	.	ENSP00000262317:M600I	M	+	3	0	CRAMP1L	1663912	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.140000	0.94607	2.884000	0.98904	0.655000	0.94253	ATG	CRAMP1L	-	NULL		0.557	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1723911	1	no_errors	ENST00000293925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1723911	G	T	1723911	3	4	139	1	0	0	0	0	1	0	0	0	3851	1290	45	3	3753	3	CRAMP1L	16	1723911	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		1723911	88630842	91	22939										
ZNF434	54925	genome.wustl.edu	37	chr16	3433692	3433692	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tttagattttcttttttaatCtcgttcttgaactcaaaacc	3	8	4	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:3433692C>G	ENST00000396852.4	-	7	1561	c.1254G>C	c.(1252-1254)gaG>gaC	p.E418D	ZSCAN32_ENST00000439568.2_Missense_Mutation_p.E129D|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.E418D|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.E206D	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	418					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CTTTTTTAATCTCGTTCTTGA	0.343																																																	0													34	33	34					16																	3433692		2197	4300	6497	SO:0001583	missense	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1254G>C	16.37:g.3433692C>G	ENSP00000380061:p.Glu418Asp		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E418D	ENST00000396852.4	37	c.1254		16	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304258	0.23736	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.09255	3.0;3.07;3.07;3.01	3.98	-2.7	0.06004	.	.	.	.	.	T	0.05731	0.0150	L	0.27053	0.805	0.09310	N	1	B;B	0.28470	0.213;0.213	B;B	0.21151	0.033;0.033	T	0.34925	-0.9809	9	0.52906	T	0.07	.	2.6953	0.05133	0.343:0.3091:0.0:0.3479	.	206;418	Q9NX65;Q6WMU8	ZN434_HUMAN;.	D	206;418;418;129	ENSP00000302502:E206D;ENSP00000380061:E418D;ENSP00000380057:E418D;ENSP00000391787:E129D	ENSP00000302502:E206D	E	-	3	2	ZNF434	3373693	0.000000	0.05858	0.001000	0.08648	0.234000	0.25298	-0.798000	0.04565	-0.482000	0.06782	-0.182000	0.12963	GAG	ZNF434	-	NULL		0.343	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	C	NM_017810		3433692	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	missense	SNP	0.012	G	G	3433692	C	G	3433692	3	3	139	1	0	0	0	0	1	0	0	0	17938	912	32	1	843	1	ZNF434	16	3433692	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	1709781	3433692	86921061	92	22940										
NPIP	9284	genome.wustl.edu	37	chr16	15045687	15045687	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ccctcagcggatgataatctCaagacacctgcggagtgtct	10	12	3	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:15045687C>G	ENST00000328085.6	+	8	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	286	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ATGATAATCTCAAGACACCTG	0.532																																																	0													21	17	18					16																	15045687		1283	2256	3539	SO:0001819	synonymous_variant	9284			AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.858C>G	16.37:g.15045687C>G			O15102	Silent	SNP	pfam_NPIP	p.L286	ENST00000328085.6	37	c.858	CCDS10557.1	16																																																																																			NPIP	-	pfam_NPIP		0.532	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPIP	HGNC	protein_coding	OTTHUMT00000207326.2	C	NM_006985		15045687	1	no_errors	ENST00000328085	ensembl	human	novel	70_37	silent	SNP	0.077	G	G	15045687	C	G	15045687	2	3	139	1	0	0	0	0	0	0	0	1	10608	813	29	1		1	NPIP	16	15045687	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	11611995	15045687	75309066	93	22941										
DNAH3	55567	genome.wustl.edu	37	chr16	20976329	20976329	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctgaccagcttttgggagcaGatttcaatgttttcctccaa	8	10	1	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:20976329G>A	ENST00000261383.3	-	53	8876	c.8877C>T	c.(8875-8877)atC>atT	p.I2959I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2959	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTGGGAGCAGATTTCAATGT	0.522																																																	0													157	149	152					16																	20976329		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8877C>T	16.37:g.20976329G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.I2959	ENST00000261383.3	37	c.8877	CCDS10594.1	16																																																																																			DNAH3	-	superfamily_Prefoldin		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20976329	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.895	A	A	20976329	G	A	20976329	2	1	139	1	0	0	0	0	0	0	0	1	4613	932	33	1		1	DNAH3	16	20976329	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	5930642	20976329	69378424	94	22942										
DNAH3	55567	genome.wustl.edu	37	chr16	21139040	21139040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gtctggtgtgcctccaggcaGtgtttctggatcacatccca	11	12	3	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:21139040G>T	ENST00000261383.3	-	8	1175	c.1176C>A	c.(1174-1176)caC>caA	p.H392Q	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.H392Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	392	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCCAGGCAGTGTTTCTGGA	0.478																																																	0													139	129	132					16																	21139040		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1176C>A	16.37:g.21139040G>T	ENSP00000261383:p.His392Gln		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.H392Q	ENST00000261383.3	37	c.1176	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278834	0.10458	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21543	2.0;2.14	5.57	3.51	0.40186	.	0.214071	0.40222	N	0.001154	T	0.12050	0.0293	N	0.25647	0.755	0.32298	N	0.565421	B;B	0.25272	0.013;0.122	B;B	0.20955	0.006;0.032	T	0.16689	-1.0394	10	0.13853	T	0.58	.	8.6104	0.33800	0.0829:0.1524:0.7647:0.0	.	392;363	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Q	392;392;363	ENSP00000261383:H392Q;ENSP00000394245:H392Q	ENSP00000261383:H392Q	H	-	3	2	DNAH3	21046541	0.994000	0.37717	0.997000	0.53966	0.620000	0.37586	0.141000	0.16076	1.357000	0.45904	-0.244000	0.11960	CAC	DNAH3	-	NULL		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21139040	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21139040	G	T	21139040	3	4	139	1	0	0	0	0	1	0	0	0	4613	1020	36	4	11393	4	DNAH3	16	21139040	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	162711	21139040	69215713	95	22943										
SLC5A11	115584	genome.wustl.edu	37	chr16	24895396	24895396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cctggctgctgtgatctacaCggatgccctgcagacgctga	12	13	1	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:24895396C>T	ENST00000347898.3	+	8	1230	c.608C>T	c.(607-609)aCg>aTg	p.T203M	SLC5A11_ENST00000569071.1_Missense_Mutation_p.T139M|SLC5A11_ENST00000539472.1_Missense_Mutation_p.T139M|SLC5A11_ENST00000449109.2_Missense_Mutation_p.T139M|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T133M|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T168M|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T168M|SLC5A11_ENST00000568579.1_Missense_Mutation_p.T133M|SLC5A11_ENST00000565769.1_Missense_Mutation_p.T139M	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GTGATCTACACGGATGCCCTG	0.597																																																	0													200	183	189					16																	24895396		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.608C>T	16.37:g.24895396C>T	ENSP00000289932:p.Thr203Met			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T203M	ENST00000347898.3	37	c.608	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882201	0.91740	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	M	0.93763	3.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;1.0;1.0;1.0	D	0.97265	0.9907	10	0.62326	D	0.03	.	16.0468	0.80725	0.0:1.0:0.0:0.0	.	133;168;203;139	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	M	203;139;168;133;139	ENSP00000289932:T203M;ENSP00000389606:T139M;ENSP00000416782:T168M;ENSP00000441384:T133M;ENSP00000441018:T139M	ENSP00000289932:T203M	T	+	2	0	SLC5A11	24802897	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	7.679000	0.84048	2.376000	0.81061	0.655000	0.94253	ACG	SLC5A11	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.597	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	C	NM_052944		24895396	1	no_errors	ENST00000347898	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24895396	C	T	24895396	3	4	139	1	0	0	0	0	1	0	0	0	14693	536	19	2	634	2	SLC5A11	16	24895396	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	3756356	24895396	65459357	96	22944										
ORC6L	23594	genome.wustl.edu	37	chr16	46723632	46723632	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ggcgccatggggtcggagctGatcgggcgcctagccccgcg	18	14	0	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:46723632G>C	ENST00000219097.2	+	1	75	c.15G>C	c.(13-15)ctG>ctC	p.L5L	ORC6_ENST00000566860.1_5'Flank|ORC6_ENST00000568364.2_Silent_p.L5L|VPS35_ENST00000299138.7_5'Flank	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	5					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GGTCGGAGCTGATCGGGCGCC	0.706																																																	0													11	12	11					16																	46723632		2188	4282	6470	SO:0001819	synonymous_variant	23594			AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"origin recognition complex, subunit 6 homolog-like (yeast)", "origin recognition complex, subunit 6 like (yeast)"	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.15G>C	16.37:g.46723632G>C			B3KN89	Silent	SNP	pfam_ORC6	p.L5	ENST00000219097.2	37	c.15	CCDS10722.1	16																																																																																			ORC6	-	NULL		0.706	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC6	HGNC	protein_coding	OTTHUMT00000255739.3	G			46723632	1	no_errors	ENST00000219097	ensembl	human	known	70_37	silent	SNP	0.000	C	C	46723632	G	C	46723632	2	2	139	1	0	0	0	0	0	0	0	1	11290	1277	45	1		1	ORC6L	16	46723632	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	21828236	46723632	43631121	97	22945										
ACD	65057	genome.wustl.edu	37	chr16	67692539	67692539	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cgggtctggtgggggcagctCagggcctggggggttcagga	22	8	3	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr16:67692539C>T	ENST00000393919.4	-	9	1270	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ACD_ENST00000219251.8_Missense_Mutation_p.E333K|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	336	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGGCAGCTCAGGGCCTGGG	0.617																																																	0													50	54	52					16																	67692539		2198	4300	6498	SO:0001583	missense	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1006G>A	16.37:g.67692539C>T	ENSP00000377496:p.Glu336Lys		Q562H5|Q9H8F9	Missense_Mutation	SNP	pfam_Telomere_Pot1	p.E333K	ENST00000393919.4	37	c.997	CCDS42181.1	16	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595220	0.66219	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.35048	1.33;1.33	4.15	3.19	0.36642	.	0.352028	0.22714	N	0.056530	T	0.22781	0.0550	L	0.27053	0.805	0.09310	N	1	B;P	0.34639	0.331;0.461	B;B	0.33339	0.078;0.162	T	0.10359	-1.0633	10	0.39692	T	0.17	-6.4421	7.8388	0.29387	0.0:0.8808:0.0:0.1192	.	336;333	Q96AP0;Q96AP0-2	ACD_HUMAN;.	K	333;336	ENSP00000219251:E333K;ENSP00000377496:E336K	ENSP00000219251:E333K	E	-	1	0	ACD	66250040	0.015000	0.18098	0.006000	0.13384	0.278000	0.26855	0.528000	0.23002	0.842000	0.35045	0.462000	0.41574	GAG	ACD	-	NULL		0.617	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACD	HGNC	protein_coding	OTTHUMT00000268880.1	C	NM_022914		67692539	-1	no_errors	ENST00000219251	ensembl	human	known	70_37	missense	SNP	0.011	T	T	67692539	C	T	67692539	3	4	139	1	0	0	0	0	1	0	0	0	135	835	29	1	644	1	ACD	16	67692539	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	20968907	67692539	22662214	98	22946										
DDX52	11056	genome.wustl.edu	37	chr17	36002173	36002173	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttcctttttttcttgctctgCtccctcttcctttcagttag	4	13	4	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr17:36002173C>G	ENST00000349699.2	-	2	295	c.252G>C	c.(250-252)gaG>gaC	p.E84D	RP11-697E22.2_ENST00000586950.1_RNA|RP11-697E22.2_ENST00000586163.1_RNA|DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	84						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCTTGCTCTGCTCCCTCTTCC	0.383																																																	0													191	191	191					17																	36002173		2203	4300	6503	SO:0001583	missense	11056			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.252G>C	17.37:g.36002173C>G	ENSP00000268854:p.Glu84Asp		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E84D	ENST00000349699.2	37	c.252	CCDS11323.1	17	.	.	.	.	.	.	.	.	.	.	C	6.534	0.466832	0.12402	.	.	ENSG00000141141	ENST00000349699	T	0.15017	2.46	4.82	0.0919	0.14470	.	2.277430	0.01108	N	0.005514	T	0.10423	0.0255	N	0.22421	0.69	0.09310	N	0.999993	B	0.21905	0.062	B	0.15484	0.013	T	0.17319	-1.0373	10	0.10636	T	0.68	.	3.7706	0.08640	0.1689:0.5413:0.0:0.2897	.	84	Q9Y2R4	DDX52_HUMAN	D	84	ENSP00000268854:E84D	ENSP00000268854:E84D	E	-	3	2	DDX52	33076286	0.002000	0.14202	0.001000	0.08648	0.029000	0.11900	-0.074000	0.11450	-0.107000	0.12088	0.491000	0.48974	GAG	DDX52	-	NULL		0.383	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX52	HGNC	protein_coding	OTTHUMT00000256795.1	C	NM_152300		36002173	-1	no_errors	ENST00000349699	ensembl	human	known	70_37	missense	SNP	0.001	G	G	36002173	C	G	36002173	3	3	139	1	0	0	0	0	1	0	0	0	4375	796	28	4	1603	4	DDX52	17	36002173	Missense_Mutation	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		36002173	45193037	99	22947										
ZNF101	94039	genome.wustl.edu	37	chr19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	cttatgaatgcaaggtgtgcGggaaagcctttaattctccc	10	9	1	1	rs558462983		TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438													G|||	1	0.000199681	0	0	5008	,	,		19760	0		0.001	False		,,,				2504	0																0													89	94	92					19																	19790321		2203	4300	6503	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.523G>A	19.37:g.19790321G>A	ENSP00000468049:p.Gly175Arg		C9JU83|Q0VDG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G175R	ENST00000592502.1	37	c.523	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552295	0.65311	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07444	3.19;3.19	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27594	0.0678	M	0.90198	3.095	0.34091	D	0.660734	D	0.76494	0.999	D	0.67900	0.954	T	0.38457	-0.9660	9	0.72032	D	0.01	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	175	Q8IZC7	ZN101_HUMAN	R	175;175;55	ENSP00000319716:G175R;ENSP00000400952:G55R	ENSP00000319716:G175R	G	+	1	0	ZNF101	19651321	1.000000	0.71417	0.543000	0.28128	0.550000	0.35303	2.860000	0.48372	0.308000	0.22923	0.313000	0.20887	GGG	ZNF101	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	G	NM_033204		19790321	1	no_errors	ENST00000318110	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19790321	G	A	19790321	3	1	139	1	0	0	0	0	1	0	0	0	17744	1116	39	2	537	2	ZNF101	19	19790321	Missense_Mutation	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09		19790321	39338662	100	22948										
CAPN12	147968	genome.wustl.edu	37	chr19	39232548	39232548	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	atccagcggccaaactgccaGagctggtgggagaagatgca	14	10	0	3			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:39232548G>C	ENST00000328867.4	-	4	737	c.429C>G	c.(427-429)ctC>ctG	p.L143L	CAPN12_ENST00000601953.1_5'UTR|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	143	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAACTGCCAGAGCTGGTGGG	0.622																																																	0													60	42	48					19																	39232548		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.429C>G	19.37:g.39232548G>C				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L143	ENST00000328867.4	37	c.429	CCDS12519.1	19																																																																																			CAPN12	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	G			39232548	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	1.000	C	C	39232548	G	C	39232548	2	2	139	1	0	0	0	0	0	0	0	1	2630	929	33	1		1	CAPN12	19	39232548	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	19442227	39232548	19896435	101	22949										
SHKBP1	92799	genome.wustl.edu	37	chr19	41083468	41083468	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ccccctttcccgcagatcttCatcgacagggaccctacagt	7	17	2	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:41083468C>T	ENST00000291842.5	+	4	241	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SHKBP1_ENST00000600733.1_Silent_p.F64F	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.F64F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCAGATCTTCATCGACAGGG	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											173	166	168					19																	41083468		2203	4300	6503	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.192C>T	19.37:g.41083468C>T			Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	NULL	p.S7L	ENST00000291842.5	37	c.20	CCDS12560.1	19																																																																																			SHKBP1	-	NULL		0.592	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41083468	1	no_errors	ENST00000595523	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41083468	C	T	41083468	2	4	139	1	0	0	0	0	0	0	0	1	14314	825	29	1		1	SHKBP1	19	41083468	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	1850920	41083468	18045515	102	22950										
CGB1	114335	genome.wustl.edu	37	chr19	49539053	49539053	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	gcgtaggagaccacggggttCacgccgcgcgggcagccagg	18	13	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:49539053C>A	ENST00000301407.7	-	3	386	c.282G>T	c.(280-282)gtG>gtT	p.V94V	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Silent_p.V94V	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	126						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCACGGGGTTCACGCCGCGCG	0.687																																																	0													5	8	7					19																	49539053		1720	3746	5466	SO:0001819	synonymous_variant	114335			S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.282G>T	19.37:g.49539053C>A			A4FVC8|A8MUK6	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.V94	ENST00000301407.7	37	c.282	CCDS12751.2	19																																																																																			CGB1	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.687	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	CGB1	HGNC	protein_coding	OTTHUMT00000316746.4	C	NM_033377		49539053	-1	no_errors	ENST00000301407	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49539053	C	A	49539053	2	1	139	1	0	0	0	0	0	0	0	1	3302	813	29	3		3	CGB1	19	49539053	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	8455585	49539053	9589930	103	22951										
ZNF446	55663	genome.wustl.edu	37	chr19	58989542	58989542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	acatccttccacccacccagGattcaggtgagcagccccaa	7	17	1	1			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr19:58989542G>A	ENST00000594369.1	+	4	1002	c.621G>A	c.(619-621)agG>agA	p.R207R	ZNF446_ENST00000335841.4_Silent_p.R207R|CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Silent_p.R207R	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	207					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCCACCCAGGATTCAGGTGA	0.602																																																	0													94	77	83					19																	58989542		2203	4300	6503	SO:0001819	synonymous_variant	55663				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.621G>A	19.37:g.58989542G>A				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R207	ENST00000594369.1	37	c.621	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382027	0.42207	.	.	ENSG00000083838	ENST00000391694	.	.	.	4.31	2.08	0.27032	.	.	.	.	.	T	0.40448	0.1117	.	.	.	0.26859	N	0.967991	.	.	.	.	.	.	T	0.35968	-0.9767	5	0.72032	D	0.01	-24.6208	6.2268	0.20711	0.1019:0.1871:0.711:0.0	.	.	.	.	E	37	.	ENSP00000375576:G37E	G	+	2	0	ZNF446	63681354	0.884000	0.30299	0.944000	0.38274	0.274000	0.26718	0.915000	0.28638	0.709000	0.31976	0.561000	0.74099	GGA	ZNF446	-	NULL		0.602	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	G	NM_017908		58989542	1	no_errors	ENST00000594369	ensembl	human	known	70_37	silent	SNP	0.998	A	A	58989542	G	A	58989542	2	1	139	1	0	0	0	0	0	0	0	1	17949	1165	41	1		1	ZNF446	19	58989542	Silent	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	9450489	58989542	139441	104	22952										
RIMBP3	85376	genome.wustl.edu	37	chr22	20457501	20457501	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	tggctgccagcccctgaactCggacattctccttctgagcc	9	16	2	2			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr22:20457501C>T	ENST00000426804.1	-	1	4285	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1267										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCCCTGAACTCGGACATTCTC	0.597																																																	0													1	1	1					22																	20457501		17	45	62	SO:0001819	synonymous_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3801G>A	22.37:g.20457501C>T			Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.P1267	ENST00000426804.1	37	c.3801	CCDS46665.1	22																																																																																			RIMBP3	-	NULL		0.597	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	C	NM_015672		20457501	-1	no_errors	ENST00000426804	ensembl	human	known	70_37	silent	SNP	0.000	T	T	20457501	C	T	20457501	2	4	139	1	0	0	0	0	0	0	0	1	13394	871	31	1		1	RIMBP3	22	20457501	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		20457501	30847065	105	22953										
SEZ6L	23544	genome.wustl.edu	37	chr22	26707735	26707735	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ctctctttcccttcctcagcGtttgagaaaggccactgcta	7	14	2	1	rs199961565	byFrequency	TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chr22:26707735G>A	ENST00000248933.6	+	8	1778	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	SEZ6L_ENST00000529632.2_Splice_Site_p.A561A|SEZ6L_ENST00000360929.3_Splice_Site_p.A561A|SEZ6L_ENST00000404234.3_Splice_Site_p.A561A|SEZ6L_ENST00000402979.1_Splice_Site_p.A334A|SEZ6L_ENST00000343706.4_Splice_Site_p.A561A|SEZ6L_ENST00000403121.1_Splice_Site_p.A334A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	561	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTTCCTCAGCGTTTGAGAAAG	0.507																																																	0													200	199	199					22																	26707735		2203	4300	6503	SO:0001630	splice_region_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1682-1G>A	22.37:g.26707735G>A			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A561	ENST00000248933.6	37	c.1683	CCDS13833.1	22																																																																																			SEZ6L	-	superfamily_CUB,smart_CUB,pfscan_CUB		0.507	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G		Silent	26707735	1	no_errors	ENST00000248933	ensembl	human	known	70_37	silent	SNP	0.682	A	A	26707735	G	A	26707735	5	1	139	1	0	0	0	0	0	0	1	0	14173	1159	40	2	1713	2	SEZ6L	22	26707735	Splice_Site	SNP	G	TCGA-FU-A5XV-01A-11D-A28B-09	6250234	26707735	24596831	106	22954										
HDHD1A	8226	genome.wustl.edu	37	chrX	7023797	7023797	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	aatgccttcttacccataacCagggactttacatcccagct	5	14	1	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chrX:7023797C>G	ENST00000381077.5	-	2	220	c.144G>C	c.(142-144)ctG>ctC	p.L48L	HDHD1_ENST00000540122.1_Silent_p.L48L|HDHD1_ENST00000412827.2_Silent_p.L48L|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Silent_p.L71L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	48					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TACCCATAACCAGGGACTTTA	0.433																																																	0													62	55	57					X																	7023797		1873	4102	5975	SO:0001819	synonymous_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.144G>C	X.37:g.7023797C>G			B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.L71	ENST00000381077.5	37	c.213	CCDS48075.1	X																																																																																			HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom		0.433	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	C	NM_012080		7023797	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	silent	SNP	0.011	G	G	7023797	C	G	7023797	2	3	139	1	0	0	0	0	0	0	0	1	7042	581	21	4		4	HDHD1A	23	7023797	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09		7023797	148246763	107	22955										
ALAS2	212	genome.wustl.edu	37	chrX	55041279	55041279	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.424528301886792	45	5.29062896909511e-15	3.52934451219512	5.359375	2.47355769230769	0.413470423222996	0.657485754961158	32	ttgcgctggtgggctcgcctCagggcttggccctcctctcc	13	16	2	0			TCGA-FU-A5XV-01A-11D-A28B-09	TCGA-FU-A5XV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8e00f794-d9ca-41a6-9326-27f8b2ece8ba	9c23cb7c-3414-47a2-85ab-896140b04a43	g.chrX:55041279C>T	ENST00000330807.5	-	9	1475	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.L433L|ALAS2_ENST00000335854.4_Silent_p.L409L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	446					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGCTCGCCTCAGGGCTTGGC	0.612																																																	0													44	31	35					X																	55041279		2202	4297	6499	SO:0001819	synonymous_variant	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1338G>A	X.37:g.55041279C>T			A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.L446	ENST00000330807.5	37	c.1338	CCDS14366.1	X																																																																																			ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth		0.612	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	C	NM_000032		55041279	-1	no_errors	ENST00000330807	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55041279	C	T	55041279	2	4	139	1	0	0	0	0	0	0	0	1	485	813	29	1		1	ALAS2	23	55041279	Silent	SNP	C	TCGA-FU-A5XV-01A-11D-A28B-09	48017482	55041279	100229281	108	22956										
SLC45A1	50651	genome.wustl.edu	37	chr1	8399605	8399605	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gtccgcaccctctacttcatCgcctatctcgccttcggcct	6	19	3	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:8399605C>T	ENST00000471889.1	+	8	2212	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	SLC45A1_ENST00000289877.8_Silent_p.I609I|SLC45A1_ENST00000377479.2_Silent_p.I643I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	609					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTACTTCATCGCCTATCTCG	0.607																																																	0													151	132	138					1																	8399605		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1827C>T	1.37:g.8399605C>T			Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I643	ENST00000471889.1	37	c.1929	CCDS30577.1	1																																																																																			SLC45A1	-	superfamily_MFS_dom_general_subst_transpt		0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	C			8399605	1	no_errors	ENST00000377479	ensembl	human	known	70_37	silent	SNP	0.961	T	T	8399605	C	T	8399605	2	4	140	1	0	0	0	0	0	0	0	1	14670	874	31	1		1	SLC45A1	1	8399605	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09		8399605	240851016	1	22957										
CA6	765	genome.wustl.edu	37	chr1	9027808	9027808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ctaccatggctcactcaccaCgcctccctgcactgagaacg	7	18	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:9027808C>T	ENST00000377443.2	+	6	666	c.662C>T	c.(661-663)aCg>aTg	p.T221M	CA6_ENST00000377442.2_Missense_Mutation_p.T161M|CA6_ENST00000377436.3_Missense_Mutation_p.T221M|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	221	Substrate binding. {ECO:0000250}.				bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TCACTCACCACGCCTCCCTGC	0.527																																																	0													186	138	154					1																	9027808		2203	4300	6503	SO:0001583	missense	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.662C>T	1.37:g.9027808C>T	ENSP00000366662:p.Thr221Met		E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.T221M	ENST00000377443.2	37	c.662	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908363	0.52333	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.61158	0.13;0.13;0.13	5.31	5.31	0.75309	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.048752	0.85682	D	0.000000	D	0.83073	0.5175	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88185	0.2873	9	.	.	.	.	14.4726	0.67526	0.0:1.0:0.0:0.0	.	161;221	E7EMQ1;P23280	.;CAH6_HUMAN	M	221;221;161	ENSP00000366662:T221M;ENSP00000366654:T221M;ENSP00000366661:T161M	.	T	+	2	0	CA6	8950395	1.000000	0.71417	0.951000	0.38953	0.041000	0.13682	5.737000	0.68606	2.472000	0.83506	0.561000	0.74099	ACG	CA6	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.527	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	HGNC	protein_coding	OTTHUMT00000004911.1	C			9027808	1	no_errors	ENST00000377443	ensembl	human	known	70_37	missense	SNP	0.991	T	T	9027808	C	T	9027808	3	4	140	1	0	0	0	0	1	0	0	0	2526	536	19	2	684	2	CA6	1	9027808	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	628203	9027808	240222813	2	22958										
TMCO4	255104	genome.wustl.edu	37	chr1	20073674	20073674	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	accgatcaccgttccgcctcCgacagtcgccaggcctatca	8	18	2	0	rs149198268	byFrequency	TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:20073674C>A	ENST00000294543.6	-	8	836	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G199*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G199*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	199						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTTCCGCCTCCGACAGTCGCC	0.547																																																	0													289	299	295					1																	20073674		2203	4300	6503	SO:0001587	stop_gained	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.595G>T	1.37:g.20073674C>A	ENSP00000294543:p.Gly199*		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Nonsense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.G199*	ENST00000294543.6	37	c.595	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.681321	0.97759	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.627	16.5105	0.84283	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000294543:G199X	G	-	1	0	TMCO4	19946261	1.000000	0.71417	0.980000	0.43619	0.934000	0.57294	6.689000	0.74562	2.484000	0.83849	0.655000	0.94253	GGA	TMCO4	-	pfam_DUF726		0.547	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	C	NM_181719		20073674	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	20073674	C	A	20073674	4	1	140	1	0	0	0	0	0	1	0	0	16028	661	23	2	1345	2	TMCO4	1	20073674	Nonsense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	11045866	20073674	229176947	3	22959										
C1orf113	79729	genome.wustl.edu	37	chr1	36784876	36784876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tccaggacatctcggacaccCagcagggacagtcagaagct	11	13	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:36784876C>T	ENST00000426732.2	+	11	816	c.531C>T	c.(529-531)ccC>ccT	p.P177P	SH3D21_ENST00000505871.1_Silent_p.P182P|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000453908.2_Silent_p.P293P			A4FU49	SH321_HUMAN	SH3 domain containing 21	177						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CTCGGACACCCAGCAGGGACA	0.642																																																	0													47	46	46					1																	36784876		692	1591	2283	SO:0001819	synonymous_variant	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.531C>T	1.37:g.36784876C>T			B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.P293	ENST00000426732.2	37	c.879		1																																																																																			SH3D21	-	NULL		0.642	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		C	NM_024676		36784876	1	no_errors	ENST00000453908	ensembl	human	known	70_37	silent	SNP	0.001	T	T	36784876	C	T	36784876	2	4	140	1	0	0	0	0	0	0	0	1	1991	581	21	4		4	C1orf113	1	36784876	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	16711202	36784876	212465745	4	22960										
LHX8	431707	genome.wustl.edu	37	chr1	75602794	75602794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gtttcctgcaggtgagccccGagggagcgggggacgaggac	19	10	0	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:75602794G>A	ENST00000294638.5	+	4	779	c.115G>A	c.(115-117)Gag>Aag	p.E39K	LHX8_ENST00000356261.3_Missense_Mutation_p.E29K|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	39					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E39K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGTGAGCCCCGAGGGAGCGGG	0.731																																																	1	Substitution - Missense(1)	lung(1)											23	27	26					1																	75602794		2202	4298	6500	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.115G>A	1.37:g.75602794G>A	ENSP00000294638:p.Glu39Lys		E9PGE3	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.E39K	ENST00000294638.5	37	c.115	CCDS30756.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349123	0.61183	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86164	-2.08;-2.07	5.32	4.41	0.53225	.	0.435271	0.21649	N	0.071219	T	0.59348	0.2187	N	0.19112	0.55	0.28912	N	0.892678	B	0.24368	0.102	B	0.10450	0.005	T	0.42224	-0.9464	10	0.12766	T	0.61	.	12.0138	0.53303	0.1445:0.0:0.8555:0.0	.	39	Q68G74	LHX8_HUMAN	K	39;29	ENSP00000294638:E39K;ENSP00000348597:E29K	ENSP00000294638:E39K	E	+	1	0	LHX8	75375382	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.817000	0.48034	1.250000	0.43966	0.555000	0.69702	GAG	LHX8	-	NULL		0.731	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	HGNC	protein_coding	OTTHUMT00000026700.1	G	NM_001001933		75602794	1	no_errors	ENST00000294638	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75602794	G	A	75602794	3	1	140	1	0	0	0	0	1	0	0	0	8796	1059	37	1	125	1	LHX8	1	75602794	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	38817918	75602794	173647827	5	22961										
NES	10763	genome.wustl.edu	37	chr1	156641574	156641574	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gactttaagaactcttgattCtcattttcaagaggtctagc	7	8	4	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:156641574C>A	ENST00000368223.3	-	4	2538	c.2406G>T	c.(2404-2406)gaG>gaT	p.E802D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	802	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTTGATTCTCATTTTCAA	0.423																																																	0													83	78	80					1																	156641574		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2406G>T	1.37:g.156641574C>A	ENSP00000357206:p.Glu802Asp		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E802D	ENST00000368223.3	37	c.2406	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512105	0.64522	.	.	ENSG00000132688	ENST00000368223	D	0.86865	-2.18	5.4	3.53	0.40419	.	0.235958	0.21953	N	0.066714	T	0.72566	0.3476	L	0.54323	1.7	0.36716	D	0.880924	B	0.25390	0.125	B	0.22753	0.041	T	0.68507	-0.5390	10	0.49607	T	0.09	.	7.5502	0.27793	0.0:0.745:0.1663:0.0887	.	802	P48681	NEST_HUMAN	D	802	ENSP00000357206:E802D	ENSP00000357206:E802D	E	-	3	2	NES	154908198	0.000000	0.05858	0.013000	0.15412	0.777000	0.43975	0.008000	0.13197	0.661000	0.30985	0.563000	0.77884	GAG	NES	-	NULL		0.423	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	C	NM_006617		156641574	-1	no_errors	ENST00000368223	ensembl	human	known	70_37	missense	SNP	0.920	A	A	156641574	C	A	156641574	3	1	140	1	0	0	0	0	1	0	0	0	10361	912	32	3	2463	3	NES	1	156641574	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	81038780	156641574	92609047	6	22962										
RGPD4	285190	genome.wustl.edu	37	chr2	108487587	108487587	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tccattttgaaccagtagttCaaatgcctgaaaaagtagaa	7	7	1	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:108487587C>A	ENST00000408999.3	+	20	3204	c.3127C>A	c.(3127-3129)Caa>Aaa	p.Q1043K	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1043K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1043	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCAGTAGTTCAAATGCCTGA	0.383																																																	0													6	5	5					2																	108487587		676	1526	2202	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3127C>A	2.37:g.108487587C>A	ENSP00000386810:p.Gln1043Lys		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.Q1043K	ENST00000408999.3	37	c.3127	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	0.035	-1.311982	0.01342	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38560	1.13;1.13	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.27731	0.0682	N	0.17631	0.505	0.33981	D	0.647915	P	0.36330	0.548	B	0.35039	0.194	T	0.47275	-0.9130	9	0.56958	D	0.05	-19.4331	11.5771	0.50869	0.0:1.0:0.0:0.0	.	1043	Q7Z3J3	RGPD4_HUMAN	K	1043;1043;801	ENSP00000347081:Q1043K;ENSP00000386810:Q1043K	ENSP00000347081:Q1043K	Q	+	1	0	RGPD4	107854019	1.000000	0.71417	0.996000	0.52242	0.489000	0.33432	5.707000	0.68370	1.303000	0.44873	0.162000	0.16502	CAA	RGPD4	-	smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108487587	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108487587	C	A	108487587	3	1	140	1	0	0	0	0	1	0	0	0	13318	827	29	3	3205	3	RGPD4	2	108487587	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09		108487587	134711786	7	22963										
DPP10	57628	genome.wustl.edu	37	chr2	116538475	116538475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ctactgaaggattattgaatCgccaatgcatttcatgtaat	7	7	1	2	rs139445738		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:116538475C>G	ENST00000410059.1	+	16	1867	c.1387C>G	c.(1387-1389)Cgc>Ggc	p.R463G	DPP10_ENST00000310323.8_Missense_Mutation_p.R456G|DPP10_ENST00000409163.1_Missense_Mutation_p.R413G|DPP10_ENST00000393147.2_Missense_Mutation_p.R467G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	463						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTATTGAATCGCCAATGCAT	0.318																																																	0													119	117	118					2																	116538475		2202	4292	6494	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1387C>G	2.37:g.116538475C>G	ENSP00000386565:p.Arg463Gly		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R467G	ENST00000410059.1	37	c.1399	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136315	0.77662	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.86805	2.84	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	T	0.67074	-0.5762	10	0.66056	D	0.02	-15.3281	17.3362	0.87282	0.0:1.0:0.0:0.0	.	456;467;459;463	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	463;413;467;456;413	ENSP00000386565:R463G;ENSP00000387038:R413G;ENSP00000376855:R467G;ENSP00000309066:R456G	ENSP00000309066:R456G	R	+	1	0	DPP10	116254945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.060000	0.64312	2.777000	0.95525	0.655000	0.94253	CGC	DPP10	-	pfam_Peptidase_S9B		0.318	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	C	NM_020868		116538475	1	no_errors	ENST00000393147	ensembl	human	known	70_37	missense	SNP	1.000	G	G	116538475	C	G	116538475	3	3	140	1	0	0	0	0	1	0	0	0	4737	884	31	1	1620	1	DPP10	2	116538475	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	8050888	116538475	126660898	8	22964										
SLC25A12	8604	genome.wustl.edu	37	chr2	172691340	172691340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ttaaatgcattgaagtaggaGaagctaacctggtgtgagat	12	4	0	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:172691340G>A	ENST00000422440.2	-	7	685	c.648C>T	c.(646-648)ttC>ttT	p.F216F	SLC25A12_ENST00000392592.4_Silent_p.F109F	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	216					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|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)	integral component of membrane (GO:0016021)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGAAGTAGGAGAAGCTAACCT	0.373																																																	0													99	90	94					2																	172691340		2203	4300	6503	SO:0001819	synonymous_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.648C>T	2.37:g.172691340G>A			B3KR64|Q96AM8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.F216	ENST00000422440.2	37	c.648	CCDS33327.1	2																																																																																			SLC25A12	-	NULL		0.373	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172691340	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	silent	SNP	1.000	A	A	172691340	G	A	172691340	2	1	140	1	0	0	0	0	0	0	0	1	14504	933	33	1		1	SLC25A12	2	172691340	Silent	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	56152865	172691340	70508033	9	22965										
TTN	7273	genome.wustl.edu	37	chr2	179392002	179392002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gccttcatcaatgctgatatCagatggaagagcttcaattt	8	8	4	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:179392002C>T	ENST00000591111.1	-	313	103014	c.102790G>A	c.(102790-102792)Gat>Aat	p.D34264N	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D33337N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D35905N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26840N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26965N|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D27032N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592161.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34264	Ig-like 152.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTGATATCAGATGGAAGA	0.393																																																	0													67	57	60					2																	179392002		1859	4092	5951	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102790G>A	2.37:g.179392002C>T	ENSP00000465570:p.Asp34264Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D33337N	ENST00000591111.1	37	c.100009		2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533836	0.64972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57446	0.2054	L	0.35288	1.05	0.52099	D	0.999946	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.74674	0.947;0.947;0.947;0.979;0.984	T	0.57118	-0.7866	9	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	26840;26965;27032;34264;33337	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	N	33337;26840;27032;26965;26837	ENSP00000343764:D33337N;ENSP00000434586:D26840N;ENSP00000340554:D27032N;ENSP00000352154:D26965N	ENSP00000340554:D27032N	D	-	1	0	TTN	179100248	1.000000	0.71417	0.976000	0.42696	0.886000	0.51366	6.023000	0.70848	2.882000	0.98803	0.655000	0.94253	GAT	TTN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179392002	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179392002	C	T	179392002	3	4	140	1	0	0	0	0	1	0	0	0	16766	826	29	1	266	1	TTN	2	179392002	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	6700662	179392002	63807371	10	22966										
PTMA	5757	genome.wustl.edu	37	chr2	232576648	232576648	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	acaatgaggtagacgaagaaGaggaagaaggtggggaggaa	18	2	0	5			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:232576648G>T	ENST00000341369.7	+	3	360	c.169G>T	c.(169-171)Gag>Tag	p.E57*	PTMA_ENST00000409115.3_Nonsense_Mutation_p.E56*|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E82*|PTMA_ENST00000409683.1_Nonsense_Mutation_p.E56*|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E77*	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	57	Asp/Glu-rich (acidic).				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		agacgaagaagaggaagaagg	0.517																																																	0													51	54	53					2																	232576648		2015	4188	6203	SO:0001587	stop_gained	5757				CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"gene sequence 28"	188390	"prothymosin, alpha (gene sequence 28)"	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.169G>T	2.37:g.232576648G>T	ENSP00000344547:p.Glu57*		Q15249|Q15592	Nonsense_Mutation	SNP	pfam_Pro/parathymosin	p.E57*	ENST00000341369.7	37	c.169	CCDS42833.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.602270|6.602270	0.97697|0.97697	.|.	.|.	ENSG00000187514|ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839|ENST00000412128	.|.	.|.	.|.	3.58|3.58	2.7|2.7	0.31948|0.31948	.|.	0.177141|.	0.33875|.	U|.	0.004470|.	.|T	.|0.52041	.|0.1710	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61613	.|-0.7027	.|3	0.72032|.	D|.	0.01|.	.|.	10.7214|10.7214	0.46042|0.46042	0.098:0.0:0.902:0.0|0.098:0.0:0.902:0.0	.|.	.|.	.|.	.|.	X|N	77;56;57;56;82;81|93	.|.	ENSP00000344547:E57X|.	E|K	+|+	1|3	0|2	PTMA|PTMA	232284892|232284892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.756000|5.756000	0.68757|0.68757	1.084000|1.084000	0.41184|0.41184	0.549000|0.549000	0.68633|0.68633	GAG|AAG	PTMA	-	pfam_Pro/parathymosin		0.517	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1	G			232576648	1	no_errors	ENST00000341369	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	232576648	G	T	232576648	4	4	140	1	0	0	0	0	0	1	0	0	12794	943	33	3	179	3	PTMA	2	232576648	Nonsense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	53184646	232576648	10622725	11	22967										
BSN	8927	genome.wustl.edu	37	chr3	49701900	49701900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gaggaaccccaggggctcccGccggccagccaggtgccgat	15	16	0	0	rs202222119		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:49701900G>A	ENST00000296452.4	+	9	11767	c.11653G>A	c.(11653-11655)Gcc>Acc	p.A3885T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3885					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGGGCTCCCGCCGGCCAGCC	0.622																																																	0													52	64	60					3																	49701900		2203	4299	6502	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11653G>A	3.37:g.49701900G>A	ENSP00000296452:p.Ala3885Thr		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.A3885T	ENST00000296452.4	37	c.11653	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069183	0.36470	.	.	ENSG00000164061	ENST00000296452	T	0.21191	2.02	4.88	2.71	0.32032	.	0.208432	0.39475	N	0.001344	T	0.11024	0.0269	N	0.21448	0.665	0.49389	D	0.999785	B	0.31125	0.309	B	0.18561	0.022	T	0.12477	-1.0546	10	0.48119	T	0.1	-3.7278	6.9324	0.24449	0.1541:0.1837:0.6622:0.0	.	3885	Q9UPA5	BSN_HUMAN	T	3885	ENSP00000296452:A3885T	ENSP00000296452:A3885T	A	+	1	0	BSN	49676904	0.982000	0.34865	0.939000	0.37840	0.737000	0.42083	1.982000	0.40638	1.010000	0.39314	0.561000	0.74099	GCC	BSN	-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49701900	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.832	A	A	49701900	G	A	49701900	3	1	140	1	0	0	0	0	1	0	0	0	1533	1087	38	2	11687	2	BSN	3	49701900	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		49701900	148320530	12	22968										
POLQ	10721	genome.wustl.edu	37	chr3	121263576	121263576	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ttacataaatttggatacctGaataaactaaattctttcct	3	7	1	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:121263576G>A	ENST00000264233.5	-	2	469	c.341C>T	c.(340-342)tCa>tTa	p.S114L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	114	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)		TTGGATACCTGAATAAACTAA	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													53	55	55					3																	121263576		2203	4300	6503	SO:0001583	missense	10721			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.341C>T	3.37:g.121263576G>A	ENSP00000264233:p.Ser114Leu		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.S114L	ENST00000264233.5	37	c.341	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867489	0.91587	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.42513	0.97	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.248088	0.42053	D	0.000763	T	0.68366	0.2993	M	0.91872	3.25	0.80722	D	1	P	0.50156	0.932	P	0.54431	0.752	T	0.76310	-0.3006	10	0.87932	D	0	.	19.5585	0.95363	0.0:0.0:1.0:0.0	.	114	O75417	DPOLQ_HUMAN	L	114;249	ENSP00000264233:S114L	ENSP00000264233:S114L	S	-	2	0	POLQ	122746266	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.313000	0.96297	2.614000	0.88457	0.557000	0.71058	TCA	POLQ	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121263576	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121263576	G	A	121263576	3	1	140	1	0	0	0	0	1	0	0	0	12232	1294	45	1	7547	1	POLQ	3	121263576	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	71561676	121263576	76758854	13	22969										
PARP15	165631	genome.wustl.edu	37	chr3	122345698	122345698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgccggaaaaaaccctatcaCagttgctgataacataatcg	7	10	1	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:122345698C>A	ENST00000464300.2	+	9	1322	c.1256C>A	c.(1255-1257)aCa>aAa	p.T419K	PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.T185K|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	419	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AACCCTATCACAGTTGCTGAT	0.358																																																	0													79	73	75					3																	122345698		2203	4300	6503	SO:0001583	missense	165631			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1256C>A	3.37:g.122345698C>A	ENSP00000417214:p.Thr419Lys		J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.T419K	ENST00000464300.2	37	c.1256	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.433070	0.01108	.	.	ENSG00000173200	ENST00000464300;ENST00000542823;ENST00000310366	T;T	0.21361	2.01;2.01	3.55	-7.1	0.01547	Appr-1-p processing (2);	.	.	.	.	T	0.04137	0.0115	N	0.02674	-0.535	0.09310	N	1	B;B;B	0.25235	0.121;0.006;0.002	B;B;B	0.14578	0.011;0.003;0.001	T	0.35226	-0.9797	9	0.07482	T	0.82	.	0.4205	0.00455	0.3679:0.2212:0.1282:0.2827	.	185;166;397	Q460N3-2;F5H8I1;Q460N3	.;.;PAR15_HUMAN	K	419;166;185	ENSP00000417214:T419K;ENSP00000308436:T185K	ENSP00000308436:T185K	T	+	2	0	PARP15	123828388	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-4.287000	0.00259	-0.987000	0.03494	-0.253000	0.11424	ACA	PARP15	-	smart_A1pp,pfscan_A1pp		0.358	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	C	NM_152615		122345698	1	no_errors	ENST00000464300	ensembl	human	known	70_37	missense	SNP	0.000	A	A	122345698	C	A	122345698	3	1	140	1	0	0	0	0	1	0	0	0	11483	478	17	4	1359	4	PARP15	3	122345698	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	1082122	122345698	75676732	14	22970										
TMEM108	66000	genome.wustl.edu	37	chr3	133099023	133099024	+	Frame_Shift_Ins	INS	-	-	C													0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ccagccgccccaccacagcgINScccccccgcactaccacacg					rs200373483		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:133099023_133099024insC	ENST00000321871.6	+	4	678_679	c.468_469insC	c.(469-471)cccfs	p.P157fs	TMEM108_ENST00000393130.3_Frame_Shift_Ins_p.P157fs|TMEM108_ENST00000515826.1_Frame_Shift_Ins_p.P157fs|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	157	Pro-rich.					integral component of membrane (GO:0016021)		p.A156A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCACCACAGCGCCCCCCCGCAC	0.703																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.475dupC	3.37:g.133099030_133099030dupC	ENSP00000324651:p.Pro157fs		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Frame_Shift_Ins	INS	NULL	p.R158fs	ENST00000321871.6	37	c.468_469	CCDS33858.1	3																																																																																			TMEM108	-	NULL		0.703	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	-	NM_023943		133099024	1	no_errors	ENST00000321871	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C	C	133099024	-	C	133099023	7	5	140	1	0	1	1	0	0	0	0	0	16054	1074	38	0	474	0	TMEM108	3	133099023	Frame_Shift_Ins	INS	-	TCGA-FU-A770-01A-11D-A33O-09	10753325	133099023	64923407	15	22971										
JAKMIP1	152789	genome.wustl.edu	37	chr4	6086678	6086678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	aatcgcctcacatctcgctcGtccatatgttgatcctaaaa	5	13	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:6086678G>A	ENST00000282924.5	-	5	1334	c.849C>T	c.(847-849)gaC>gaT	p.D283D	JAKMIP1_ENST00000409371.3_Silent_p.D118D|JAKMIP1_ENST00000409021.3_Silent_p.D283D|JAKMIP1_ENST00000410077.2_Silent_p.D118D|JAKMIP1_ENST00000409831.1_Silent_p.D283D|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	283	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTCGCTCGTCCATATGTT	0.358																																																	0													145	138	141					4																	6086678		2203	4300	6503	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.849C>T	4.37:g.6086678G>A			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.D283	ENST00000282924.5	37	c.849	CCDS3385.1	4																																																																																			JAKMIP1	-	NULL		0.358	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	G	NM_144720		6086678	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	silent	SNP	0.786	A	A	6086678	G	A	6086678	2	1	140	1	0	0	0	0	0	0	0	1	7960	1136	40	2		2	JAKMIP1	4	6086678	Silent	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		6086678	185067598	16	22972										
SORCS2	57537	genome.wustl.edu	37	chr4	7716035	7716035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tccacgtcctggtgcatcaaGgggaggagcttcacgtcggc	14	12	2	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:7716035G>T	ENST00000507866.2	+	16	2167	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	SORCS2_ENST00000329016.9_Missense_Mutation_p.K514N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	686					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGCATCAAGGGGAGGAGCT	0.637																																																	0													45	50	48					4																	7716035		2050	4205	6255	SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2058G>T	4.37:g.7716035G>T	ENSP00000422185:p.Lys686Asn		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.K686N	ENST00000507866.2	37	c.2058	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472870	0.26423	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.20200	2.09;2.09	4.01	3.17	0.36434	VPS10 (1);	0.061501	0.64402	D	0.000006	T	0.11196	0.0273	N	0.13140	0.3	0.53688	D	0.999975	P;P	0.50272	0.883;0.933	B;B	0.44108	0.348;0.441	T	0.14587	-1.0467	10	0.26408	T	0.33	.	4.9003	0.13771	0.3966:0.0:0.6033:0.0	.	514;686	B5MED8;Q96PQ0	.;SORC2_HUMAN	N	686;514	ENSP00000422185:K686N;ENSP00000329124:K514N	ENSP00000329124:K514N	K	+	3	2	SORCS2	7766935	1.000000	0.71417	0.674000	0.29902	0.436000	0.31835	3.969000	0.56816	0.892000	0.36259	-0.136000	0.14681	AAG	SORCS2	-	smart_VPS10		0.637	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	G	NM_020777		7716035	1	no_errors	ENST00000507866	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7716035	G	T	7716035	3	4	140	1	0	0	0	0	1	0	0	0	14961	991	35	4	2120	4	SORCS2	4	7716035	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	1629357	7716035	183438241	17	22973										
GABRG1	2565	genome.wustl.edu	37	chr4	46060368	46060368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgctcaggtcaaaaaaaattGtcatgataacataatcccct	5	9	3	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:46060368G>A	ENST00000295452.4	-	7	949	c.782C>T	c.(781-783)aCa>aTa	p.T261I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	261					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAAAAAATTGTCATGATAAC	0.294																																																	0													92	96	95					4																	46060368		2203	4300	6503	SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.782C>T	4.37:g.46060368G>A	ENSP00000295452:p.Thr261Ile		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T261I	ENST00000295452.4	37	c.782	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736838	0.89482	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80214	-1.35	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101073	0.64402	D	0.000002	D	0.84624	0.5513	L	0.42581	1.335	0.58432	D	0.999992	P	0.49447	0.924	P	0.55455	0.776	D	0.85445	0.1157	10	0.87932	D	0	.	19.1446	0.93459	0.0:0.0:1.0:0.0	.	261	Q8N1C3	GBRG1_HUMAN	I	261	ENSP00000295452:T261I	ENSP00000295452:T261I	T	-	2	0	GABRG1	45755125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.839000	0.86812	2.771000	0.95319	0.644000	0.83932	ACA	GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	G	NM_173536		46060368	-1	no_errors	ENST00000295452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46060368	G	A	46060368	3	1	140	1	0	0	0	0	1	0	0	0	6189	1377	48	4	627	4	GABRG1	4	46060368	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	38344333	46060368	145093908	18	22974										
UGT2B10	7365	genome.wustl.edu	37	chr4	69692206	69692206	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	acaagtggataccccagaatGaccttctaggtaacactctg	8	11	2	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:69692206G>A	ENST00000265403.7	+	4	1105	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	UGT2B10_ENST00000458688.2_Missense_Mutation_p.D276N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	360					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACCCCAGAATGACCTTCTAGG	0.373																																					Melanoma(133;755 1763 25578 26334 46021)												0													125	118	121					4																	69692206		2203	4300	6503	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1078G>A	4.37:g.69692206G>A	ENSP00000265403:p.Asp360Asn		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D360N	ENST00000265403.7	37	c.1078		4	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360070	0.41801	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.65732	-0.17;-0.17	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000001	D	0.82921	0.5142	H	0.96142	3.775	0.28529	N	0.912662	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.76926	-0.2778	10	0.87932	D	0	.	9.874	0.41191	0.0:0.0:1.0:0.0	.	276;360	B4DPP1;P36537	.;UDB10_HUMAN	N	360;276	ENSP00000265403:D360N;ENSP00000413420:D276N	ENSP00000265403:D360N	D	+	1	0	UGT2B10	69726795	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	7.614000	0.82996	1.089000	0.41292	0.184000	0.17185	GAC	UGT2B10	-	pfam_UDP_glucos_trans		0.373	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	G	NM_001075		69692206	1	no_errors	ENST00000265403	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69692206	G	A	69692206	3	1	140	1	0	0	0	0	1	0	0	0	16987	1290	45	1	1092	1	UGT2B10	4	69692206	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	23631838	69692206	121462070	19	22975										
C6	729	genome.wustl.edu	37	chr5	41172399	41172399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tttcttagcaaataaaacgcGtttctttgtttcaatcctga	5	8	3	1	rs147449601		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:41172399G>A	ENST00000263413.3	-	9	1483	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R407C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	407	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATAAAACGCGTTTCTTTGTT	0.403													G|||	1	0.000199681	0	0.0014	5008	,	,		20737	0		0	False		,,,				2504	0																0													254	210	225					5																	41172399		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1219C>T	5.37:g.41172399G>A	ENSP00000263413:p.Arg407Cys			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R407C	ENST00000263413.3	37	c.1219	CCDS3936.1	5	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.30	2.492870	0.44352	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84516	-1.86;-1.86	4.89	1.96	0.26148	Membrane attack complex component/perforin (MACPF) domain (3);	4.273250	0.00633	N	0.000490	D	0.92371	0.7579	M	0.77820	2.39	0.33131	D	0.543038	D	0.69078	0.997	D	0.63192	0.912	T	0.79203	-0.1900	10	0.37606	T	0.19	-3.9749	13.7749	0.63048	0.0:0.0:0.5979:0.4021	.	407	P13671	CO6_HUMAN	C	407	ENSP00000338861:R407C;ENSP00000263413:R407C	ENSP00000263413:R407C	R	-	1	0	C6	41208156	0.392000	0.25229	0.093000	0.20910	0.697000	0.40408	1.872000	0.39549	0.159000	0.19401	0.655000	0.94253	CGC	C6	-	pfam_MACPF,smart_MACPF		0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	G			41172399	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	0.587	A	A	41172399	G	A	41172399	3	1	140	1	0	0	0	0	1	0	0	0	2320	1145	40	2	1625	2	C6	5	41172399	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		41172399	139742861	20	22976										
ANKRD32	84250	genome.wustl.edu	37	chr5	94027876	94027876	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgtccagaggtagatctgctCactcaagtggacggggtgac	14	9	3	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:94027876C>T	ENST00000265140.5	+	20	3029	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	870						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TAGATCTGCTCACTCAAGTGG	0.488																																																	0													143	129	134					5																	94027876		2203	4300	6503	SO:0001819	synonymous_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2610C>T	5.37:g.94027876C>T			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L870	ENST00000265140.5	37	c.2610	CCDS4071.2	5																																																																																			ANKRD32	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.488	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	C	NM_032290		94027876	1	no_errors	ENST00000265140	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94027876	C	T	94027876	2	4	140	1	0	0	0	0	0	0	0	1	660	813	29	1		1	ANKRD32	5	94027876	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	52855477	94027876	86887384	21	22977										
HSD17B4	3295	genome.wustl.edu	37	chr5	118832280	118832280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	agttctgagtaaaatagattCagaaggaggagtttcagcaa	11	4	3	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:118832280C>T	ENST00000256216.6	+	12	1044	c.911C>T	c.(910-912)tCa>tTa	p.S304L	HSD17B4_ENST00000414835.2_Missense_Mutation_p.S164L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S167L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S280L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S42L|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S329L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S286L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	304	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AAAATAGATTCAGAAGGAGGA	0.343																																					Colon(35;490 801 34689 41394 43344)												0													125	133	130					5																	118832280		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.911C>T	5.37:g.118832280C>T	ENSP00000256216:p.Ser304Leu		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S304L	ENST00000256216.6	37	c.911	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214699	0.58452	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82433	-1.61;-1.29;-1.25;-1.27;-1.59;-1.46;-0.96	5.41	4.48	0.54585	.	0.410909	0.26731	N	0.022791	D	0.86053	0.5841	M	0.87547	2.89	0.35940	D	0.833144	B;B;B;D;B	0.54964	0.252;0.007;0.009;0.969;0.02	B;B;B;P;B	0.46110	0.014;0.007;0.012;0.504;0.01	D	0.90740	0.4649	10	0.51188	T	0.08	-9.0922	12.9488	0.58388	0.1616:0.8384:0.0:0.0	.	329;286;280;42;304	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	L	304;286;280;329;164;167;42	ENSP00000256216:S304L;ENSP00000424613:S286L;ENSP00000424940:S280L;ENSP00000420914:S329L;ENSP00000411960:S164L;ENSP00000425993:S167L;ENSP00000426272:S42L	ENSP00000256216:S304L	S	+	2	0	HSD17B4	118860179	0.994000	0.37717	0.969000	0.41365	0.987000	0.75469	2.623000	0.46435	2.536000	0.85505	0.650000	0.86243	TCA	HSD17B4	-	NULL		0.343	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118832280	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.921	T	T	118832280	C	T	118832280	3	4	140	1	0	0	0	0	1	0	0	0	7406	838	29	1	957	1	HSD17B4	5	118832280	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	24804404	118832280	62082980	22	22978										
MAML1	9794	genome.wustl.edu	37	chr5	179201801	179201801	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gtgtggctggacacaccgatCtgatcgactccctgctgaag	12	12	1	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:179201801C>G	ENST00000292599.3	+	5	3237	c.2974C>G	c.(2974-2976)Ctg>Gtg	p.L992V	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557																																																	0													89	83	85					5																	179201801		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2974C>G	5.37:g.179201801C>G	ENSP00000292599:p.Leu992Val			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.L992V	ENST00000292599.3	37	c.2974	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755555	0.69648	.	.	ENSG00000161021	ENST00000292599	T	0.43294	0.95	5.27	4.41	0.53225	.	0.000000	0.56097	D	0.000033	T	0.64000	0.2559	M	0.73962	2.25	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.68439	-0.5408	10	0.72032	D	0.01	-19.9684	13.9601	0.64172	0.0:0.9262:0.0:0.0738	.	992	Q92585	MAML1_HUMAN	V	992	ENSP00000292599:L992V	ENSP00000292599:L992V	L	+	1	2	MAML1	179134407	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.424000	0.52764	1.229000	0.43630	0.555000	0.69702	CTG	MAML1	-	NULL		0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179201801	1	no_errors	ENST00000292599	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179201801	C	G	179201801	3	3	140	1	0	0	0	0	1	0	0	0	9228	912	32	1	2992	1	MAML1	5	179201801	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	60369521	179201801	1713459	23	22979										
COQ3	51805	genome.wustl.edu	37	chr6	99831699	99831699	+	Splice_Site	SNP	A	A	G													0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ctgagctggttcttcacataAactgaaaaaaaaaattaaat							TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:99831699A>G	ENST00000254759.3	-	2	132	c.108T>C	c.(106-108)gtT>gtC	p.V36V	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	36					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTCACATAAACTGAAAAAA	0.313																																																	0													53	58	57					6																	99831699		2202	4299	6501	SO:0001630	splice_region_variant	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.107-1T>C	6.37:g.99831699A>G			B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Silent	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.V36	ENST00000254759.3	37	c.108	CCDS5042.1	6																																																																																			COQ3	-	NULL		0.313	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	A	NM_017421	Silent	99831699	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	silent	SNP	0.669	G	G	99831699	A	G	99831699	5	3	140	1	0	0	0	0	0	0	1	0	3751	28	1	5	1025	5	COQ3	6	99831699	Splice_Site	SNP	A	TCGA-FU-A770-01A-11D-A33O-09		99831699	71283368	24	22980	126	2								
COQ3	51805	genome.wustl.edu	37	chr6	99831701	99831701	+	Splice_Site	SNP	C	C	T													0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gagctggttcttcacataaaCtgaaaaaaaaaattaaatat							TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:99831701C>T	ENST00000254759.3	-	2	131		c.e2-1		COQ3_ENST00000479163.1_Splice_Site|COQ3_ENST00000369242.1_Splice_Site	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase						glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTCACATAAACTGAAAAAAAA	0.308																																																	0													52	57	55					6																	99831701		2202	4299	6501	SO:0001630	splice_region_variant	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.107-1G>A	6.37:g.99831701C>T			B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Splice_Site	SNP	-	e2-1	ENST00000254759.3	37	c.107-1	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290140	0.23478	.	.	ENSG00000132423	ENST00000254759	.	.	.	4.36	0.606	0.17559	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1158	0.20126	0.0:0.5624:0.0:0.4376	.	.	.	.	.	-1	.	.	.	-	.	.	COQ3	99938422	0.000000	0.05858	0.654000	0.29608	0.658000	0.38924	-0.565000	0.05929	0.215000	0.20761	0.655000	0.94253	.	COQ3	-	-		0.308	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	C	NM_017421	Intron	99831701	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	splice_site	SNP	0.683	T	T	99831701	C	T	99831701	5	4	140	1	0	0	0	0	0	0	1	0	3751	579	20	4	1027	4	COQ3	6	99831701	Splice_Site	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	2	99831701	71283366	25	22981	126	2								
REV3L	5980	genome.wustl.edu	37	chr6	111689105	111689105	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	aggggtgaccctggccttggAttctgagtcattgctgagaa	14	8	2	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:111689105A>G	ENST00000358835.3	-	15	6340	c.5886T>C	c.(5884-5886)aaT>aaC	p.N1962N	REV3L_ENST00000368802.3_Silent_p.N1962N|REV3L_ENST00000435970.1_Silent_p.N1884N|REV3L_ENST00000368805.1_Silent_p.N1962N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1962					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGGCCTTGGATTCTGAGTCA	0.438								DNA polymerases (catalytic subunits)																																									0													90	88	88					6																	111689105		2203	4300	6503	SO:0001819	synonymous_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5886T>C	6.37:g.111689105A>G			O43214|Q5TC33	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.N1962	ENST00000358835.3	37	c.5886	CCDS5091.2	6																																																																																			REV3L	-	superfamily_RNaseH-like_dom		0.438	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	A	NM_002912		111689105	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	silent	SNP	1.000	G	G	111689105	A	G	111689105	2	3	140	1	0	0	0	0	0	0	0	1	13270	330	12	5		5	REV3L	6	111689105	Silent	SNP	A	TCGA-FU-A770-01A-11D-A33O-09	11857404	111689105	59425962	26	22982										
LAMA2	3908	genome.wustl.edu	37	chr6	129618862	129618862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ggcctacaatcagcaaggggCtgtgttccctgcaactgcaa	11	12	1	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:129618862C>T	ENST00000421865.2	+	21	2938	c.2889C>T	c.(2887-2889)ggC>ggT	p.G963G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	963	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCAAGGGGCTGTGTTCCCT	0.453																																																	0													104	92	96					6																	129618862		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2889C>T	6.37:g.129618862C>T			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G963	ENST00000421865.2	37	c.2889	CCDS5138.1	6																																																																																			LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129618862	1	no_errors	ENST00000421865	ensembl	human	known	70_37	silent	SNP	0.484	T	T	129618862	C	T	129618862	2	4	140	1	0	0	0	0	0	0	0	1	8626	784	28	4		4	LAMA2	6	129618862	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	17929757	129618862	41496205	27	22983										
PLEKHG1	57480	genome.wustl.edu	37	chr6	151152826	151152826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cagagaccgtctcctggcagCgtttcctgtgagcaaggatg	13	11	1	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:151152826C>T	ENST00000358517.2	+	15	2790	c.2579C>T	c.(2578-2580)gCg>gTg	p.A860V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A860V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	860							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTCCTGGCAGCGTTTCCTGTG	0.532																																																	0													48	52	50					6																	151152826		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2579C>T	6.37:g.151152826C>T	ENSP00000351318:p.Ala860Val		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A860V	ENST00000358517.2	37	c.2579	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810824	0.50421	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.41400	1.0;1.0	5.47	5.47	0.80525	.	0.049788	0.85682	D	0.000000	T	0.48696	0.1514	L	0.41236	1.265	0.51482	D	0.999925	B;D;D	0.89917	0.357;1.0;1.0	B;D;D	0.63877	0.065;0.919;0.919	T	0.51403	-0.8710	10	0.87932	D	0	.	19.3452	0.94359	0.0:1.0:0.0:0.0	.	667;860;860	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	860	ENSP00000356297:A860V;ENSP00000351318:A860V	ENSP00000351318:A860V	A	+	2	0	PLEKHG1	151194519	1.000000	0.71417	0.042000	0.18584	0.367000	0.29736	7.474000	0.81024	2.570000	0.86706	0.609000	0.83330	GCG	PLEKHG1	-	NULL		0.532	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	C			151152826	1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	0.985	T	T	151152826	C	T	151152826	3	4	140	1	0	0	0	0	1	0	0	0	12092	768	27	2	2633	2	PLEKHG1	6	151152826	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	21533964	151152826	19962241	28	22984										
POLD2	5425	genome.wustl.edu	37	chr7	44156597	44156597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cgccacccaggcccaggccgGacaccagtagcacaaacctg	10	18	0	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:44156597G>A	ENST00000406581.2	-	7	1248	c.599C>T	c.(598-600)tCc>tTc	p.S200F	POLD2_ENST00000223361.3_Missense_Mutation_p.S200F|POLD2_ENST00000452185.1_Missense_Mutation_p.S200F	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	200					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCCCAGGCCGGACACCAGTAG	0.657																																																	0													19	22	21					7																	44156597		2203	4299	6502	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.599C>T	7.37:g.44156597G>A	ENSP00000386105:p.Ser200Phe		A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.S200F	ENST00000406581.2	37	c.599	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323168	0.81580	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436844;ENST00000433715	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.77	5.77	0.91146	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85252	0.1045	10	0.87932	D	0	-3.4961	19.5941	0.95527	0.0:0.0:1.0:0.0	.	200;200	P49005;F8W8R3	DPOD2_HUMAN;.	F	200;200;200;118;200	ENSP00000386105:S200F;ENSP00000223361:S200F;ENSP00000395231:S200F;ENSP00000416203:S118F	ENSP00000223361:S200F	S	-	2	0	POLD2	44123122	1.000000	0.71417	0.966000	0.40874	0.369000	0.29798	9.643000	0.98464	2.723000	0.93209	0.655000	0.94253	TCC	POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu		0.657	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	G	NM_001127218		44156597	-1	no_errors	ENST00000406581	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44156597	G	A	44156597	3	1	140	1	0	0	0	0	1	0	0	0	12215	1174	41	1	834	1	POLD2	7	44156597	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		44156597	114982066	29	22985										
MLL3	58508	genome.wustl.edu	37	chr7	151848547	151848548	+	Frame_Shift_Ins	INS	-	-	T													0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ttgttcaaaagggtcagatcINStttgaaagatttccgcacac							TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:151848547_151848548insT	ENST00000262189.6	-	50	12863_12864	c.12645_12646insA	c.(12643-12648)aaagatfs	p.D4216fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.D4273fs|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4216					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGGTCAGATCTTTGAAAGATT	0.45																																																	0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12646dupA	7.37:g.151848550_151848550dupT	ENSP00000262189:p.Asp4216fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4272fs	ENST00000262189.6	37	c.12817_12816	CCDS5931.1	7																																																																																			MLL3	-	NULL		0.45	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	-			151848548	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	151848548	-	T	151848547	7	5	140	1	0	1	1	0	0	0	0	0	9645	913	32	0	2129	0	MLL3	7	151848547	Frame_Shift_Ins	INS	-	TCGA-FU-A770-01A-11D-A33O-09	107691950	151848547	7290116	30	22986										
MLL3	58508	genome.wustl.edu	37	chr7	151902278	151902278	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ggttttcccttgcccagttcGacttctttgccgcaccataa	7	14	1	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:151902278G>A	ENST00000262189.6	-	25	4092	c.3874C>T	c.(3874-3876)Cga>Tga	p.R1292*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R1292*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1292					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCCCAGTTCGACTTCTTTGC	0.403																																																	0													81	76	78					7																	151902278		2203	4297	6500	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3874C>T	7.37:g.151902278G>A	ENSP00000262189:p.Arg1292*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R1292*	ENST00000262189.6	37	c.3874	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	12.023801	0.99628	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.71	5.71	0.89125	.	0.000000	0.39615	N	0.001316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	X	1292	.	ENSP00000262189:R1292X	R	-	1	2	MLL3	151533211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.891000	0.75639	2.699000	0.92147	0.650000	0.86243	CGA	MLL3	-	NULL		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151902278	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151902278	G	A	151902278	4	1	140	1	0	0	0	0	0	1	0	0	9645	1066	37	1	11001	1	MLL3	7	151902278	Nonsense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	53731	151902278	7236385	31	22987										
SYBU	55638	genome.wustl.edu	37	chr8	110587418	110587418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gctctctcatgaggcggtttGcatgaacttctgcatccaca	9	12	3	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr8:110587418G>T	ENST00000422135.1	-	8	2224	c.1709C>A	c.(1708-1710)gCa>gAa	p.A570E	SYBU_ENST00000533171.1_Missense_Mutation_p.A570E|SYBU_ENST00000408889.3_Missense_Mutation_p.A451E|SYBU_ENST00000440310.1_Missense_Mutation_p.A570E|SYBU_ENST00000446070.2_Missense_Mutation_p.A569E|SYBU_ENST00000528331.1_Missense_Mutation_p.A451E|SYBU_ENST00000419099.1_Missense_Mutation_p.A569E|SYBU_ENST00000533895.1_Missense_Mutation_p.A569E|SYBU_ENST00000276646.9_Missense_Mutation_p.A570E|SYBU_ENST00000424158.2_Missense_Mutation_p.A575E|SYBU_ENST00000532779.1_Missense_Mutation_p.A502E|SYBU_ENST00000408908.2_Missense_Mutation_p.A570E|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533065.1_Missense_Mutation_p.A451E|SYBU_ENST00000529690.1_Missense_Mutation_p.A440E|SYBU_ENST00000528647.1_Missense_Mutation_p.A569E|SYBU_ENST00000529175.1_Missense_Mutation_p.A364E|SYBU_ENST00000399066.3_Missense_Mutation_p.A567E|SYBU_ENST00000433638.1_Missense_Mutation_p.A570E	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	570					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAGGCGGTTTGCATGAACTTC	0.542																																																	0													54	56	55					8																	110587418		1962	4144	6106	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1709C>A	8.37:g.110587418G>T	ENSP00000407118:p.Ala570Glu		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.A570E	ENST00000422135.1	37	c.1709	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	0	-2.590795	0.00126	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.97	-1.13	0.09775	.	0.692004	0.15208	N	0.274654	T	0.17746	0.0426	N	0.12887	0.27	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.32188	-0.9916	9	0.02654	T	1	-0.9489	9.1398	0.36897	0.0:0.1523:0.4331:0.4146	.	440;502;569;570;567	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	E	569;575;502;567;569;451;364;570;569;570;569;570;570;570;451;451;440;570	.	ENSP00000276646:A570E	A	-	2	0	SYBU	110656594	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.239000	0.18023	-0.200000	0.10300	0.655000	0.94253	GCA	SYBU	-	NULL		0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	G	NM_017786		110587418	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.000	T	T	110587418	G	T	110587418	3	4	140	1	0	0	0	0	1	0	0	0	15457	1319	46	4	286	4	SYBU	8	110587418	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		110587418	35776604	32	22988										
CDKN2A	1029	genome.wustl.edu	37	chr9	21994297	21994297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cggcgggccgcacgcgcgccGaatccggagggtcaccaaga	16	15	1	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:21994297G>A	ENST00000579755.1	-	1	326	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	CDKN2B-AS1_ENST00000581051.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000582072.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R12W|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R53W|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2A_ENST00000494262.1_Intron|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(198)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGCGCGCCGAATCCGGAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							199	Whole gene deletion(199)	haematopoietic_and_lymphoid_tissue(34)|central_nervous_system(31)|lung(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)	GRCh37	HM972052	p14arf	M							10	12	11					9																	21994297		2167	4242	6409	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000579755.1:c.34C>T	9.37:g.21994297G>A	ENSP00000462950:p.Arg12Trp		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.R53W	ENST00000579755.1	37	c.157	CCDS6511.2	9	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687623	0.48097	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	D;D	0.81499	-1.5;-1.5	4.23	2.22	0.28083	.	0.210963	0.24158	N	0.041001	T	0.63861	0.2547	L	0.27053	0.805	0.09310	N	1	B	0.29232	0.238	B	0.22880	0.042	T	0.58578	-0.7612	10	0.87932	D	0	.	5.2362	0.15448	0.1145:0.2108:0.6747:0.0	.	53	Q8N726	CD2A2_HUMAN	W	53;12	ENSP00000355153:R53W;ENSP00000432664:R12W	ENSP00000355153:R53W	R	-	1	2	CDKN2A	21984297	0.996000	0.38824	0.943000	0.38184	0.142000	0.21351	1.501000	0.35693	1.138000	0.42230	0.555000	0.69702	CGG	CDKN2A	-	pfam_Cyclin_kinase-Inhib_2A		0.726	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051918.5	G	NM_000077		21994297	-1	no_errors	ENST00000361570	ensembl	human	known	70_37	missense	SNP	0.269	A	A	21994297	G	A	21994297	3	1	140	1	0	0	0	0	1	0	0	0	3166	1057	37	1	846	1	CDKN2A	9	21994297	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		21994297	119219134	33	22989										
UNC13B	10497	genome.wustl.edu	37	chr9	35403968	35403968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tatctcagaggagcaatgacGaggtggcccgagaatttgtg	14	7	1	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:35403968G>A	ENST00000378495.3	+	39	4936	c.4714G>A	c.(4714-4716)Gag>Aag	p.E1572K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E1603K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1591K|ATP8B5P_ENST00000430846.1_RNA	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1572					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAGCAATGACGAGGTGGCCCG	0.547																																																	0													65	65	65					9																	35403968		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4714G>A	9.37:g.35403968G>A	ENSP00000367756:p.Glu1572Lys		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1603K	ENST00000378495.3	37	c.4807	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.550058	0.96501	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85088	-1.81;-1.7;-1.94	5.95	5.95	0.96441	.	0.107762	0.64402	D	0.000006	D	0.91147	0.7212	M	0.81942	2.565	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.53912	0.737;0.6	D	0.91641	0.5327	10	0.87932	D	0	-24.1616	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1591;1572	F8W8M9;O14795	.;UN13B_HUMAN	K	1603;1572;1591;1178	ENSP00000380006:E1603K;ENSP00000367756:E1572K;ENSP00000367757:E1591K	ENSP00000367756:E1572K	E	+	1	0	UNC13B	35393968	1.000000	0.71417	0.969000	0.41365	0.969000	0.65631	9.760000	0.98935	2.824000	0.97209	0.655000	0.94253	GAG	UNC13B	-	NULL		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	G	NM_006377		35403968	1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35403968	G	A	35403968	3	1	140	1	0	0	0	0	1	0	0	0	17016	1059	37	1	4868	1	UNC13B	9	35403968	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	13409671	35403968	105809463	34	22990										
NPDC1	56654	genome.wustl.edu	37	chr9	139935437	139935437	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgccgagaagcccagggtggCtgcgagagaggacaggttag	18	8	0	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:139935437C>T	ENST00000371601.4	-	4	599		c.e4-1		NPDC1_ENST00000371600.3_Splice_Site|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1							integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCCAGGGTGGCTGCGAGAGAG	0.716																																																	0													16	23	20					9																	139935437		2198	4290	6488	SO:0001630	splice_region_variant	56654			AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.386-1G>A	9.37:g.139935437C>T			Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Splice_Site	SNP	-	e3-1	ENST00000371601.4	37	c.620-1	CCDS7024.1	9	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731674	0.15507	.	.	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	4.13	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8994	0.41338	0.0:0.7931:0.2068:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPDC1	139055258	0.993000	0.37304	0.993000	0.49108	0.190000	0.23558	1.703000	0.37846	1.834000	0.53371	0.471000	0.43371	.	NPDC1	-	-		0.716	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPDC1	HGNC	protein_coding	OTTHUMT00000055182.1	C	NM_015392	Intron	139935437	-1	no_errors	ENST00000371600	ensembl	human	known	70_37	splice_site	SNP	0.979	T	T	139935437	C	T	139935437	5	4	140	1	0	0	0	0	0	0	1	0	10597	811	28	4	616	4	NPDC1	9	139935437	Splice_Site	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	104531469	139935437	1277994	35	22991										
C10orf140	387640	genome.wustl.edu	37	chr10	21805717	21805717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cggtggtggtggtggtggtgGtgatggtggtggtggtggtg	26	1	0	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:21805717G>A	ENST00000449193.2	-	4	3287	c.1035C>T	c.(1033-1035)caC>caT	p.H345H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.H266H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	264	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtggtgatggtggt	0.716																																																	0													4	6	5					10																	21805717		1668	3602	5270	SO:0001819	synonymous_variant	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1035C>T	10.37:g.21805717G>A			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H345	ENST00000449193.2	37	c.1035	CCDS44363.1	10																																																																																			SKIDA1	-	NULL		0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	G	NM_207371		21805717	-1	no_errors	ENST00000449193	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21805717	G	A	21805717	2	1	140	1	0	0	0	0	0	0	0	1	1599	1252	44	4		4	C10orf140	10	21805717	Silent	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		21805717	113729030	36	22992										
RPP30	10556	genome.wustl.edu	37	chr10	92631788	92631788	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ctgcgagcgggttctgacctGaaggctctgcgcggacttgt	15	11	2	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:92631788G>A	ENST00000371703.3	+	1	316	c.45G>A	c.(43-45)ctG>ctA	p.L15L	RPP30_ENST00000413330.1_Silent_p.L15L	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	15					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GTTCTGACCTGAAGGCTCTGC	0.672																																																	0													115	120	118					10																	92631788		2203	4300	6503	SO:0001819	synonymous_variant	10556			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.45G>A	10.37:g.92631788G>A			B2R799|E9PB02	Silent	SNP	pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like	p.L15	ENST00000371703.3	37	c.45	CCDS7411.1	10																																																																																			RPP30	-	superfamily_Pol/histidinol_Pase-like		0.672	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP30	HGNC	protein_coding	OTTHUMT00000049347.1	G	NM_006413		92631788	1	no_errors	ENST00000413330	ensembl	human	known	70_37	silent	SNP	0.498	A	A	92631788	G	A	92631788	2	1	140	1	0	0	0	0	0	0	0	1	13642	1277	45	1		1	RPP30	10	92631788	Silent	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	70826071	92631788	42902959	37	22993										
PKD2L1	9033	genome.wustl.edu	37	chr10	102089754	102089754	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgctggagatggtgcagactCtcagcgtcccgtgtggggaa	16	9	1	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:102089754C>T	ENST00000318222.3	-	1	489	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R36K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R36K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	36					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGTGCAGACTCTCAGCGTCCC	0.642																																																	0													75	81	79					10																	102089754		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.107G>A	10.37:g.102089754C>T	ENSP00000325296:p.Arg36Lys		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.R36K	ENST00000318222.3	37	c.107	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509383	0.27036	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.56941	0.61;0.43;0.48	5.61	-1.82	0.07857	.	0.936308	0.09101	N	0.848488	T	0.24122	0.0584	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	10	0.06891	T	0.86	-1.7846	1.8717	0.03210	0.1309:0.3807:0.129:0.3594	.	36	Q9P0L9	PK2L1_HUMAN	K	36	ENSP00000345068:R36K;ENSP00000266049:R36K;ENSP00000325296:R36K	ENSP00000325296:R36K	R	-	2	0	PKD2L1	102079744	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.790000	0.04604	-0.178000	0.10672	-0.175000	0.13238	AGA	PKD2L1	-	NULL		0.642	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102089754	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	missense	SNP	0.003	T	T	102089754	C	T	102089754	3	4	140	1	0	0	0	0	1	0	0	0	11991	913	32	1	2374	1	PKD2L1	10	102089754	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	9457966	102089754	33444993	38	22994										
RBM4B	83759	genome.wustl.edu	37	chr11	66444539	66444539	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cggggaaggtttccgatgaaCagcttcaccatcctgacaag	11	11	1	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr11:66444539C>G	ENST00000525754.1	-	1	680	c.12G>C	c.(10-12)ctG>ctC	p.L4L	RBM4B_ENST00000310046.4_Silent_p.L4L|RBM4B_ENST00000524637.1_Silent_p.L4L|RBM4B_ENST00000531969.1_Silent_p.L4L|RBM4B_ENST00000531036.2_Silent_p.L4L			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	4	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TTCCGATGAACAGCTTCACCA	0.493																																																	0													91	88	89					11																	66444539		2200	4295	6495	SO:0001819	synonymous_variant	83759			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.12G>C	11.37:g.66444539C>G			B3KT83	Silent	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.L4	ENST00000525754.1	37	c.12	CCDS8149.1	11																																																																																			RBM4B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.493	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	HGNC	protein_coding	OTTHUMT00000393851.1	C	NM_031492		66444539	-1	no_errors	ENST00000310046	ensembl	human	known	70_37	silent	SNP	0.996	G	G	66444539	C	G	66444539	2	3	140	1	0	0	0	0	0	0	0	1	13172	465	17	4		4	RBM4B	11	66444539	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09		66444539	68561977	39	22995										
JRKL	8690	genome.wustl.edu	37	chr11	96124324	96124324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	aacgagagaatttacagcctGaacaaatctacaatgcagat	7	8	1	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr11:96124324G>A	ENST00000332349.4	+	2	758	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.E171K	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	171	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		tttacagcctgaacaaatcta	0.368																																																	0													25	23	24					11																	96124324		2198	4281	6479	SO:0001583	missense	8690			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.511G>A	11.37:g.96124324G>A	ENSP00000333350:p.Glu171Lys		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E171K	ENST00000332349.4	37	c.511	CCDS8308.1	11	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719439	0.68844	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.42513	0.97;0.97	4.85	4.85	0.62838	.	0.000000	0.41712	D	0.000829	T	0.50973	0.1647	L	0.39397	1.21	0.34860	D	0.742493	D	0.63046	0.992	D	0.64410	0.925	T	0.57843	-0.7741	10	0.27785	T	0.31	.	13.4688	0.61271	0.0:0.0:1.0:0.0	.	171	Q9Y4A0	JERKL_HUMAN	K	171	ENSP00000333350:E171K;ENSP00000389989:E171K	ENSP00000333350:E171K	E	+	1	0	JRKL	95763972	1.000000	0.71417	0.353000	0.25747	0.995000	0.86356	5.007000	0.63984	2.242000	0.73789	0.462000	0.41574	GAA	JRKL	-	pfam_DDE_SF_endonuclease_CENPB-like		0.368	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2	G	NM_003772		96124324	1	no_errors	ENST00000332349	ensembl	human	known	70_37	missense	SNP	0.762	A	A	96124324	G	A	96124324	3	1	140	1	0	0	0	0	1	0	0	0	7985	1291	45	1	513	1	JRKL	11	96124324	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	29679785	96124324	38882192	40	22996										
TAS2R7	50837	genome.wustl.edu	37	chr12	10954804	10954804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	accctgtcaattctccacttCatccagaggaaaagtgggtg	9	11	3	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:10954804C>T	ENST00000240687.2	-	1	422	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	122					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TTCTCCACTTCATCCAGAGGA	0.423																																																	0													65	61	63					12																	10954804		2203	4300	6503	SO:0001583	missense	50837			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.366G>A	12.37:g.10954804C>T	ENSP00000240687:p.Met122Ile		Q645Y1	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M122I	ENST00000240687.2	37	c.366	CCDS8631.1	12	.	.	.	.	.	.	.	.	.	.	C	6.624	0.483499	0.12581	.	.	ENSG00000121377	ENST00000240687	T	0.00711	5.8	5.49	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.371275	0.26000	N	0.026956	T	0.00552	0.0018	N	0.16066	0.365	0.23478	N	0.997593	B	0.13594	0.008	B	0.21360	0.034	T	0.50180	-0.8858	10	0.52906	T	0.07	.	1.4304	0.02332	0.159:0.4657:0.1543:0.221	.	122	Q9NYW3	TA2R7_HUMAN	I	122	ENSP00000240687:M122I	ENSP00000240687:M122I	M	-	3	0	TAS2R7	10846071	0.994000	0.37717	0.981000	0.43875	0.004000	0.04260	0.163000	0.16520	0.232000	0.21100	-0.907000	0.02831	ATG	TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	C			10954804	-1	no_errors	ENST00000240687	ensembl	human	known	70_37	missense	SNP	0.990	T	T	10954804	C	T	10954804	3	4	140	1	0	0	0	0	1	0	0	0	15616	826	29	1	594	1	TAS2R7	12	10954804	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09		10954804	122897091	41	22997										
OVCH1	341350	genome.wustl.edu	37	chr12	29639271	29639271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	acttttgagaggggttggccCcgatccaaacctgtaaaagg	12	9	0	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:29639271C>T	ENST00000318184.5	-	8	902	c.903G>A	c.(901-903)cgG>cgA	p.R301R	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	301	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGGGTTGGCCCCGATCCAAAC	0.388																																																	0													74	69	70					12																	29639271		1806	4078	5884	SO:0001819	synonymous_variant	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.903G>A	12.37:g.29639271C>T				Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R301	ENST00000318184.5	37	c.903		12																																																																																			OVCH1	-	NULL		0.388	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	C	NM_183378		29639271	-1	no_errors	ENST00000318184	ensembl	human	known	70_37	silent	SNP	0.002	T	T	29639271	C	T	29639271	2	4	140	1	0	0	0	0	0	0	0	1	11347	610	22	4		4	OVCH1	12	29639271	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	18684467	29639271	104212624	42	22998										
SCN8A	6334	genome.wustl.edu	37	chr12	52159647	52159647	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gcaagatcaaccaggactgtGaactccctcgctggcatatg	10	12	1	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:52159647G>A	ENST00000354534.6	+	16	2915	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E913K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E913K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	913					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCAGGACTGTGAACTCCCTCG	0.488																																																	0													171	176	174					12																	52159647		2203	4299	6502	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2737G>A	12.37:g.52159647G>A	ENSP00000346534:p.Glu913Lys		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E913K	ENST00000354534.6	37	c.2737	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588072	0.28268	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	4.66	1.8	0.24995	Ion transport (1);	0.543263	0.19755	N	0.106816	D	0.95056	0.8399	L	0.35644	1.08	0.33813	D	0.628147	B;B;B	0.24823	0.068;0.073;0.112	B;B;B	0.29862	0.108;0.037;0.058	D	0.92546	0.6046	10	0.27785	T	0.31	.	8.0553	0.30602	0.1494:0.1318:0.7188:0.0	.	913;913;913	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	K	913;913;913;913;826	ENSP00000448415:E913K;ENSP00000346534:E913K;ENSP00000440360:E913K;ENSP00000347255:E913K	ENSP00000346534:E913K	E	+	1	0	SCN8A	50445914	0.992000	0.36948	0.562000	0.28370	0.991000	0.79684	4.779000	0.62375	0.425000	0.26087	0.563000	0.77884	GAA	SCN8A	-	pfam_Ion_trans_dom		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52159647	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	0.987	A	A	52159647	G	A	52159647	3	1	140	1	0	0	0	0	1	0	0	0	13954	1291	45	1	2795	1	SCN8A	12	52159647	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	22520376	52159647	81692248	43	22999										
SCN8A	6334	genome.wustl.edu	37	chr12	52159746	52159746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	agaccatgtgggactgcatgGaagtggcaggccaggccatg	16	9	0	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:52159746G>A	ENST00000354534.6	+	16	3014	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E946K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E946K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	946					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGACTGCATGGAAGTGGCAGG	0.463																																																	0													212	219	217					12																	52159746		2200	4299	6499	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2836G>A	12.37:g.52159746G>A	ENSP00000346534:p.Glu946Lys		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E946K	ENST00000354534.6	37	c.2836	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.233312	0.95207	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97378	-3.91;-4.36;-4.36;-4.36	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	L	0.51853	1.615	0.80722	D	1	D;D;D	0.89917	0.996;0.974;1.0	D;D;D	0.91635	0.966;0.969;0.999	D	0.98223	1.0479	10	0.66056	D	0.02	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	946;946;946	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	K	946;946;946;946;859	ENSP00000448415:E946K;ENSP00000346534:E946K;ENSP00000440360:E946K;ENSP00000347255:E946K	ENSP00000346534:E946K	E	+	1	0	SCN8A	50446013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	GAA	SCN8A	-	pfam_Ion_trans_dom		0.463	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52159746	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52159746	G	A	52159746	3	1	140	1	0	0	0	0	1	0	0	0	13954	1175	41	1	2894	1	SCN8A	12	52159746	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	99	52159746	81692149	44	23000										
ACACB	32	genome.wustl.edu	37	chr12	109687835	109687835	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	aggatgatggcttgggcgtgGagaatctgaggggctcaggc	19	6	2	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:109687835G>C	ENST00000338432.7	+	41	5835	c.5716G>C	c.(5716-5718)Gag>Cag	p.E1906Q	ACACB_ENST00000543201.1_Missense_Mutation_p.E572Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1836Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1906Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1906	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTTGGGCGTGGAGAATCTGAG	0.488																																																	0													156	145	149					12																	109687835		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5716G>C	12.37:g.109687835G>C	ENSP00000341044:p.Glu1906Gln		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E1906Q	ENST00000338432.7	37	c.5716	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840126	0.71488	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	5.58	5.58	0.84498	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99038	1.0823	10	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1906	O00763	ACACB_HUMAN	Q	1906;1906;1836;1137;572;15	ENSP00000341044:E1906Q;ENSP00000367079:E1906Q;ENSP00000367085:E1836Q;ENSP00000444075:E572Q	ENSP00000341044:E1906Q	E	+	1	0	ACACB	108172218	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	9.857000	0.99534	2.793000	0.96121	0.655000	0.94253	GAG	ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N		0.488	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	G	NM_001093		109687835	1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109687835	G	C	109687835	3	2	140	1	0	0	0	0	1	0	0	0	107	1175	41	1	5874	1	ACACB	12	109687835	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	57528089	109687835	24164060	45	23001										
TRAFD1	10906	genome.wustl.edu	37	chr12	112572848	112572848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	atgtaacaagaagttggagaAgaggctgttaaagaagcatg	13	3	0	4			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:112572848A>G	ENST00000257604.5	+	4	832	c.215A>G	c.(214-216)aAg>aGg	p.K72R	TRAFD1_ENST00000412615.2_Missense_Mutation_p.K72R	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	72					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AAGTTGGAGAAGAGGCTGTTA	0.458																																																	0													159	136	144					12																	112572848		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.215A>G	12.37:g.112572848A>G	ENSP00000257604:p.Lys72Arg		A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.K72R	ENST00000257604.5	37	c.215	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	A	12.15	1.853019	0.32699	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	4.89	2.13	0.27403	.	0.153884	0.56097	N	0.000034	T	0.02230	0.0069	N	0.17594	0.5	0.39994	D	0.975082	B;B	0.20671	0.011;0.047	B;B	0.18561	0.01;0.022	T	0.51942	-0.8641	10	0.15952	T	0.53	-20.1416	7.3706	0.26800	0.6969:0.0:0.3031:0.0	.	72;72	F8VNX8;O14545	.;TRAD1_HUMAN	R	72	ENSP00000396526:K72R;ENSP00000449319:K72R;ENSP00000257604:K72R;ENSP00000450357:K72R	ENSP00000257604:K72R	K	+	2	0	TRAFD1	111057231	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.523000	0.45580	0.715000	0.32103	0.454000	0.30748	AAG	TRAFD1	-	NULL		0.458	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	A	NM_006700		112572848	1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.971	G	G	112572848	A	G	112572848	3	3	140	1	0	0	0	0	1	0	0	0	16478	72	3	5	225	5	TRAFD1	12	112572848	Missense_Mutation	SNP	A	TCGA-FU-A770-01A-11D-A33O-09	2885013	112572848	21279047	46	23002										
SERPINA3	12	genome.wustl.edu	37	chr14	95085798	95085798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	agcggtggagagactctctgGagttcaggtgattcttcctg	14	8	3	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr14:95085798G>A	ENST00000467132.1	+	3	2058	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SERPINA3_ENST00000482740.1_Missense_Mutation_p.E86K|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E304K|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E304K			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	304					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGACTCTCTGGAGTTCAGGTG	0.557																																																	0													57	52	54					14																	95085798		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.910G>A	14.37:g.95085798G>A	ENSP00000450540:p.Glu304Lys		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E329K	ENST00000467132.1	37	c.985	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	G	1.664	-0.510669	0.04231	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	4.79	-8.08	0.01094	Serpin domain (3);	2.989950	0.00921	N	0.002582	T	0.57184	0.2036	N	0.02334	-0.595	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.63152	-0.6701	10	0.05436	T	0.98	.	12.382	0.55311	0.7242:0.1885:0.0873:0.0	.	304;329	P01011;G3V5I3	AACT_HUMAN;.	K	329;304;304;304;304;86	ENSP00000452367:E329K;ENSP00000376793:E304K;ENSP00000376795:E304K;ENSP00000450540:E304K;ENSP00000451119:E86K	ENSP00000376793:E304K	E	+	1	0	SERPINA3	94155551	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.823000	0.00748	-1.303000	0.02332	-1.633000	0.00780	GAG	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.557	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	G	NM_001085		95085798	1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	A	A	95085798	G	A	95085798	3	1	140	1	0	0	0	0	1	0	0	0	14120	1175	41	1	916	1	SERPINA3	14	95085798	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		95085798	12263742	47	23003										
SPTBN5	51332	genome.wustl.edu	37	chr15	42158019	42158020	+	Frame_Shift_Ins	INS	-	-	CTCGGAA													0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tcttaccccggccgagtttcINSctcggaactcgcggagccgc							TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr15:42158019_42158020insCTCGGAA	ENST00000320955.6	-	39	7131_7132	c.6904_6905insTTCCGAG	c.(6904-6906)ggafs	p.G2302fs	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2302					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGAGTTTCCTCGGAACTCG	0.614																																																	0																																										SO:0001589	frameshift_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6898_6904dupTTCCGAG	15.37:g.42158020_42158026dupCTCGGAA	ENSP00000317790:p.Gly2302fs			Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G2302fs	ENST00000320955.6	37	c.6905_6904		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.614	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	NM_016642		42158020	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	frame_shift_ins	INS	0.780:0.782	CTCGGAA	CTCGGAA	42158020	-	CTCGGAA	42158019	7	5	140	1	0	1	1	0	0	0	0	0	15152	855	30	0	4239	0	SPTBN5	15	42158019	Frame_Shift_Ins	INS	-	TCGA-FU-A770-01A-11D-A33O-09		42158019	60373373	48	23004										
MESP2	145873	genome.wustl.edu	37	chr15	90320500	90320500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ccagcaactttggagctggcCgcagtgtaccaggtatgtgt	13	10	0	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr15:90320500C>T	ENST00000341735.3	+	1	912	c.912C>T	c.(910-912)gcC>gcT	p.A304A	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	304					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TGGAGCTGGCCGCAGTGTACC	0.612																																																	0													10	12	11					15																	90320500		1871	4057	5928	SO:0001819	synonymous_variant	145873				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.912C>T	15.37:g.90320500C>T			Q7RTU2	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A304	ENST00000341735.3	37	c.912	CCDS42078.1	15																																																																																			MESP2	-	NULL		0.612	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESP2	HGNC	protein_coding	OTTHUMT00000416421.1	C	XM_085261		90320500	1	no_errors	ENST00000341735	ensembl	human	known	70_37	silent	SNP	0.565	T	T	90320500	C	T	90320500	2	4	140	1	0	0	0	0	0	0	0	1	9506	639	23	2		2	MESP2	15	90320500	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	48162481	90320500	12210892	49	23005										
LASS3	204219	genome.wustl.edu	37	chr15	100942982	100942982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgaggccgttctttaaacaaTccatctctttgcctttggta	7	10	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr15:100942982T>C	ENST00000394113.1	-	14	1778	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	CERS3_ENST00000538112.2_Missense_Mutation_p.D363G|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000284382.4_Missense_Mutation_p.D363G|RP11-168G16.2_ENST00000560718.1_RNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3	363					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTTTAAACAATCCATCTCTTT	0.507																																																	0													167	127	141					15																	100942982		2203	4300	6503	SO:0001583	missense	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1088A>G	15.37:g.100942982T>C	ENSP00000377672:p.Asp363Gly		Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain	p.D363G	ENST00000394113.1	37	c.1088	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013435	0.19277	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.06849	3.25;3.25	4.93	3.79	0.43588	.	1.051590	0.07566	N	0.917850	T	0.04724	0.0128	N	0.11560	0.145	0.24361	N	0.994873	P	0.34522	0.455	B	0.29440	0.102	T	0.42882	-0.9425	10	0.23891	T	0.37	-8.0868	8.1655	0.31224	0.1787:0.0:0.0:0.8213	.	363	Q8IU89	CERS3_HUMAN	G	363;374;363	ENSP00000284382:D363G;ENSP00000437640:D363G	ENSP00000284382:D363G	D	-	2	0	CERS3	98760505	0.107000	0.21998	0.364000	0.25888	0.275000	0.26752	2.324000	0.43831	0.820000	0.34516	0.482000	0.46254	GAT	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1		0.507	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4	T	NM_178842		100942982	-1	no_errors	ENST00000284382	ensembl	human	known	70_37	missense	SNP	0.846	C	C	100942982	T	C	100942982	3	2	140	1	0	0	0	0	1	0	0	0	8660	1435	50	5	67	5	LASS3	15	100942982	Missense_Mutation	SNP	T	TCGA-FU-A770-01A-11D-A33O-09	10622482	100942982	1588410	50	23006										
BCKDK	10295	genome.wustl.edu	37	chr16	31121606	31121606	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cacaaggatgtggtgaccctCttggcagagggcctacgtga	14	10	1	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr16:31121606C>G	ENST00000394951.1	+	7	1127	c.504C>G	c.(502-504)ctC>ctG	p.L168L	BCKDK_ENST00000287507.3_Silent_p.L168L|BCKDK_ENST00000394950.3_Silent_p.L168L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Silent_p.L168L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	168	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TGGTGACCCTCTTGGCAGAGG	0.622																																																	0													67	67	67					16																	31121606		2197	4300	6497	SO:0001819	synonymous_variant	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.504C>G	16.37:g.31121606C>G			A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C	p.L168	ENST00000394951.1	37	c.504	CCDS10705.1	16																																																																																			BCKDK	-	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N		0.622	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCKDK	HGNC	protein_coding	OTTHUMT00000108514.1	C	NM_005881		31121606	1	no_errors	ENST00000219794	ensembl	human	known	70_37	silent	SNP	0.997	G	G	31121606	C	G	31121606	2	3	140	1	0	0	0	0	0	0	0	1	1362	900	32	1		1	BCKDK	16	31121606	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09		31121606	59233147	51	23007										
ATMIN	23300	genome.wustl.edu	37	chr16	81077772	81077772	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	atgagcctaagactttaaatCaagatattgagaaatctgca	7	6	2	4			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr16:81077772C>T	ENST00000299575.4	+	4	1693	c.1669C>T	c.(1669-1671)Caa>Taa	p.Q557*	ATMIN_ENST00000566488.1_Nonsense_Mutation_p.Q401*|ATMIN_ENST00000564241.1_Nonsense_Mutation_p.Q401*|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	557					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GACTTTAAATCAAGATATTGA	0.338																																																	0													42	42	42					16																	81077772		2202	4299	6501	SO:0001587	stop_gained	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1669C>T	16.37:g.81077772C>T	ENSP00000299575:p.Gln557*		A8K4H8|Q68DC9	Nonsense_Mutation	SNP	smart_Znf_C2H2-like	p.Q557*	ENST00000299575.4	37	c.1669	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	C	44	10.795280	0.99469	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	.	.	.	6.17	4.18	0.49190	.	0.236013	0.38272	N	0.001758	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.0763	17.7307	0.88376	0.0:0.5313:0.4687:0.0	.	.	.	.	X	557;328	.	ENSP00000299575:Q557X	Q	+	1	0	ATMIN	79635273	0.998000	0.40836	0.664000	0.29753	0.678000	0.39670	1.281000	0.33214	0.896000	0.36366	-0.175000	0.13238	CAA	ATMIN	-	NULL		0.338	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	C	NM_015251		81077772	1	no_errors	ENST00000299575	ensembl	human	known	70_37	nonsense	SNP	0.925	T	T	81077772	C	T	81077772	4	4	140	1	0	0	0	0	0	1	0	0	1111	827	29	1	1683	1	ATMIN	16	81077772	Nonsense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	49956166	81077772	9276981	52	23008										
PRPF8	10594	genome.wustl.edu	37	chr17	1560004	1560004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cttgggctgctcctccacagGcagagatcggatcagggcgg	15	12	1	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr17:1560004G>A	ENST00000572621.1	-	34	5822	c.5557C>T	c.(5557-5559)Cct>Tct	p.P1853S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P1853S|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1853	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCTCCACAGGCAGAGATCGG	0.537																																																	0													57	49	51					17																	1560004		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5557C>T	17.37:g.1560004G>A	ENSP00000460348:p.Pro1853Ser		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.P1853S	ENST00000572621.1	37	c.5557	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	g	31	5.084949	0.94100	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.90955	-2.76	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96239	0.9174	10	0.52906	T	0.07	.	19.5263	0.95208	0.0:0.0:1.0:0.0	.	1853	Q6P2Q9	PRP8_HUMAN	S	1853;378	ENSP00000304350:P1853S	ENSP00000304350:P1853S	P	-	1	0	PRPF8	1506754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CCT	PRPF8	-	pfam_PRP8_domainIV		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1560004	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1560004	G	A	1560004	3	1	140	1	0	0	0	0	1	0	0	0	12602	1203	42	4	1486	4	PRPF8	17	1560004	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		1560004	79635206	53	23009										
TCEB3CL	100506888	genome.wustl.edu	37	chr18	44543098	44543099	+	Frame_Shift_Ins	INS	-	-	GC													0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	ggtcactactcgcagccgctINSgctctcgggcgtcccgaagc					rs373334809		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr18:44543098_44543099insGC	ENST00000591973.2	-	1	1508_1509	c.1273_1274insGC	c.(1273-1275)cagfs	p.Q425fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	425	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGCAGCCGCTGCTCTCGGGCG	0.554																																																	0																																										SO:0001589	frameshift_variant	100506888				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1272_1273dupGC	18.37:g.44543099_44543100dupGC	ENSP00000468046:p.Gln425fs			Frame_Shift_Ins	INS	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.Q425fs	ENST00000591973.2	37	c.1274_1273	CCDS59316.1	18																																																																																			TCEB3CL2	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.554	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	-	XM_929328		44543099	-1	no_errors	ENST00000591973	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GC	GC	44543099	-	GC	44543098	7	5	140	1	0	1	1	0	0	0	0	0	15714	1580	55	0	368	0	TCEB3CL	18	44543098	Frame_Shift_Ins	INS	-	TCGA-FU-A770-01A-11D-A33O-09		44543098	33534150	54	23010										
CASP14	23581	genome.wustl.edu	37	chr19	15164616	15164616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	atcccgtcagttgtgccttcGtggtactcatggctcacggg	12	12	3	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr19:15164616G>A	ENST00000427043.3	+	4	558	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	CASP14_ENST00000221740.1_Missense_Mutation_p.V84M|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	84					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.V84M(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TTGTGCCTTCGTGGTACTCAT	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)											93	81	85					19																	15164616		2203	4300	6503	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.250G>A	19.37:g.15164616G>A	ENSP00000393417:p.Val84Met		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.V84M	ENST00000427043.3	37	c.250	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	g	13.87	2.366007	0.41902	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.28069	1.63;1.63	5.27	4.23	0.50019	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.56097	D	0.000026	T	0.57417	0.2052	M	0.87900	2.915	0.33261	D	0.5598	D	0.89917	1.0	D	0.91635	0.999	T	0.71892	-0.4455	10	0.66056	D	0.02	.	9.7296	0.40352	0.0966:0.0:0.9034:0.0	.	84	P31944	CASPE_HUMAN	M	84	ENSP00000393417:V84M;ENSP00000221740:V84M	ENSP00000221740:V84M	V	+	1	0	CASP14	15025616	0.981000	0.34729	0.295000	0.24960	0.255000	0.26057	1.864000	0.39469	1.210000	0.43336	0.306000	0.20318	GTG	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	G	NM_012114		15164616	1	no_errors	ENST00000221740	ensembl	human	known	70_37	missense	SNP	0.732	A	A	15164616	G	A	15164616	3	1	140	1	0	0	0	0	1	0	0	0	2675	1145	40	2	260	2	CASP14	19	15164616	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		15164616	43964367	55	23011										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47421954	47421954	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgatgatggcaagaaagcaaGatgtccgaattcccacctac	9	10	0	4			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr19:47421954G>C	ENST00000404338.3	+	1	22	c.22G>C	c.(22-24)Gat>Cat	p.D8H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	8					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AAGAAAGCAAGATGTCCGAAT	0.483																																																	0													160	170	167					19																	47421954		2099	4226	6325	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.22G>C	19.37:g.47421954G>C	ENSP00000385720:p.Asp8His		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D8H	ENST00000404338.3	37	c.22	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468855	0.63625	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.10960	2.82	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.62723	1.935	0.80722	D	1	D	0.55800	0.973	P	0.60949	0.881	T	0.00451	-1.1731	10	0.87932	D	0	-29.0423	18.3237	0.90246	0.0:0.0:1.0:0.0	.	8	Q9NRY4-2	.	H	8	ENSP00000385720:D8H	ENSP00000324820:D8H	D	+	1	0	ARHGAP35	52113794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.697000	0.92050	0.563000	0.77884	GAT	ARHGAP35	-	NULL		0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47421954	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47421954	G	C	47421954	3	2	140	1	0	0	0	0	1	0	0	0	6815	942	33	1	24	1	ARHGAP35	19	47421954	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	32257338	47421954	11707029	56	23012										
PLCB1	23236	genome.wustl.edu	37	chr20	8755229	8755229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	atggttcatcaacgattgagCaagacctcgctgctctggat	10	10	3	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr20:8755229C>A	ENST00000338037.6	+	27	3001	c.2974C>A	c.(2974-2976)Caa>Aaa	p.Q992K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q992K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q992K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	992					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGATTGAGCAAGACCTCGC	0.463																																																	0													123	122	122					20																	8755229		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2974C>A	20.37:g.8755229C>A	ENSP00000338185:p.Gln992Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.Q992K	ENST00000338037.6	37	c.2974	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570354	0.28003	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.17370	2.29;2.28;2.29	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	N	0.19112	0.55	0.53688	D	0.999974	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.11991	-1.0565	10	0.07644	T	0.81	.	19.6788	0.95950	0.0:1.0:0.0:0.0	.	992;992	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	992;992;992;912;912	ENSP00000367908:Q992K;ENSP00000338185:Q992K;ENSP00000367904:Q992K	ENSP00000338185:Q992K	Q	+	1	0	PLCB1	8703229	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.733000	0.68571	2.653000	0.90120	0.650000	0.86243	CAA	PLCB1	-	pirsf_PLC-beta		0.463	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8755229	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8755229	C	A	8755229	3	1	140	1	0	0	0	0	1	0	0	0	12051	711	25	4	3080	4	PLCB1	20	8755229	Missense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09		8755229	54270291	57	23013										
KIF3B	9371	genome.wustl.edu	37	chr20	30898823	30898823	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	atgataaggatgattactggCgggaacagcaagaaaaactg	12	5	0	3			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr20:30898823C>A	ENST00000375712.3	+	2	1410	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	415					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGATTACTGGCGGGAACAGCA	0.547																																																	0													70	64	66					20																	30898823		2203	4300	6503	SO:0001819	synonymous_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1243C>A	20.37:g.30898823C>A			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R415	ENST00000375712.3	37	c.1243	CCDS13200.1	20																																																																																			KIF3B	-	NULL		0.547	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	C	NM_004798		30898823	1	no_errors	ENST00000375712	ensembl	human	known	70_37	silent	SNP	0.992	A	A	30898823	C	A	30898823	2	1	140	1	0	0	0	0	0	0	0	1	8321	759	27	2		2	KIF3B	20	30898823	Silent	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	22143594	30898823	32126697	58	23014										
COL20A1	57642	genome.wustl.edu	37	chr20	61950516	61950516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cgctgtggcagatgacagccGaggacttccagcccctcctt	11	15	0	2			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr20:61950516G>A	ENST00000358894.6	+	22	2870	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	COL20A1_ENST00000435874.1_Missense_Mutation_p.E931K|COL20A1_ENST00000422202.1_Missense_Mutation_p.E931K|COL20A1_ENST00000326996.6_Missense_Mutation_p.E924K	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	924	Laminin G-like.			E -> K (in Ref. 2; AAH43183). {ECO:0000305}.	extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GATGACAGCCGAGGACTTCCA	0.672																																																	0													34	39	38					20																	61950516		1996	4157	6153	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2770G>A	20.37:g.61950516G>A	ENSP00000351767:p.Glu924Lys		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E924K	ENST00000358894.6	37	c.2770	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445103	0.25987	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	4.21	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.464267	0.21987	N	0.066218	T	0.11281	0.0275	N	0.25332	0.735	0.32397	N	0.552437	D;P	0.53312	0.959;0.931	P;B	0.45449	0.481;0.288	T	0.11108	-1.0601	10	0.44086	T	0.13	.	9.2643	0.37632	0.1046:0.0:0.8954:0.0	.	931;924	Q9P218-2;Q9P218	.;COKA1_HUMAN	K	924;924;931;931;27	ENSP00000351767:E924K;ENSP00000323077:E924K;ENSP00000408690:E931K;ENSP00000414753:E931K;ENSP00000410799:E27K	ENSP00000323077:E924K	E	+	1	0	COL20A1	61420961	0.950000	0.32346	0.022000	0.16811	0.042000	0.13812	1.678000	0.37586	0.781000	0.33589	-0.390000	0.06520	GAG	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.672	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	G	NM_020882		61950516	1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.866	A	A	61950516	G	A	61950516	3	1	140	1	0	0	0	0	1	0	0	0	3684	1059	37	1	2852	1	COL20A1	20	61950516	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	31051693	61950516	1075004	59	23015										
KCNJ4	3761	genome.wustl.edu	37	chr22	38824095	38824095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	gaagcggttgcggcgcttccGccggggcacgtgggcctggc	19	13	0	0			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr22:38824095G>A	ENST00000303592.3	-	2	301	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	15					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGGCGCTTCCGCCGGGGCACG	0.642																																																	0													223	199	207					22																	38824095		2203	4300	6503	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.43C>T	22.37:g.38824095G>A	ENSP00000306497:p.Arg15Trp		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.R15W	ENST00000303592.3	37	c.43	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549229	0.65311	.	.	ENSG00000168135	ENST00000303592	D	0.90563	-2.69	4.4	4.4	0.53042	.	0.798765	0.11373	N	0.570709	D	0.94896	0.8350	M	0.88704	2.975	0.44388	D	0.997299	D	0.76494	0.999	P	0.55667	0.781	D	0.94561	0.7762	10	0.87932	D	0	.	14.0222	0.64563	0.0:0.0:0.8485:0.1515	.	15	P48050	IRK4_HUMAN	W	15	ENSP00000306497:R15W	ENSP00000306497:R15W	R	-	1	2	KCNJ4	37154041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.639000	0.46570	2.182000	0.69389	0.555000	0.69702	CGG	KCNJ4	-	pirsf_K_chnl_inward-rec_Kir		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	G	NM_004981		38824095	-1	no_errors	ENST00000303592	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38824095	G	A	38824095	3	1	140	1	0	0	0	0	1	0	0	0	8073	1086	38	2	1298	2	KCNJ4	22	38824095	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09		38824095	12480471	60	23016										
ZNF41	7592	genome.wustl.edu	37	chrX	47307757	47307757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tagtgaaggatttcccacagTcactgcattcatacggcttt	8	10	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:47307757T>C	ENST00000377065.4	-	5	2051	c.1412A>G	c.(1411-1413)gAc>gGc	p.D471G	ZNF41_ENST00000313116.7_Missense_Mutation_p.D471G|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.D481G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCCACAGTCACTGCATTC	0.428																																																	0													93	85	88					X																	47307757		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1412A>G	X.37:g.47307757T>C	ENSP00000366265:p.Asp471Gly		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D481G	ENST00000377065.4	37	c.1442	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323441	0.24080	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07327	3.2;3.2;3.2	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.205890	0.24309	N	0.039651	T	0.10852	0.0265	N	0.25957	0.775	0.09310	N	1	B;B;P;B;B	0.51791	0.065;0.065;0.948;0.152;0.183	B;B;P;B;B	0.52823	0.075;0.075;0.71;0.107;0.171	T	0.07693	-1.0759	10	0.51188	T	0.08	.	10.3222	0.43773	0.0:0.0:0.0:1.0	.	471;473;481;505;513	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	G	471;471;481	ENSP00000315173:D471G;ENSP00000366265:D471G;ENSP00000380243:D481G	ENSP00000315173:D471G	D	-	2	0	ZNF41	47192701	0.007000	0.16637	0.004000	0.12327	0.327000	0.28475	1.596000	0.36718	1.798000	0.52647	0.486000	0.48141	GAC	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	T	NM_153380		47307757	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	0.002	C	C	47307757	T	C	47307757	3	2	140	1	0	0	0	0	1	0	0	0	17919	1667	58	5	931	5	ZNF41	23	47307757	Missense_Mutation	SNP	T	TCGA-FU-A770-01A-11D-A33O-09		47307757	107962803	61	23017										
TSPYL2	64061	genome.wustl.edu	37	chrX	53114244	53114244	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	cagctttttcagctggttctCaaaccatagcctcccagagg	8	13	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:53114244C>G	ENST00000375442.4	+	4	1238	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	369					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGCTGGTTCTCAAACCATAGC	0.617																																																	0													34	33	33					X																	53114244		2203	4300	6503	SO:0001587	stop_gained	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1106C>G	X.37:g.53114244C>G	ENSP00000364591:p.Ser369*		O94799|Q96DG7|Q9BZW6	Nonsense_Mutation	SNP	pfam_NAP_family	p.S369*	ENST00000375442.4	37	c.1106	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.880871	0.97062	.	.	ENSG00000184205	ENST00000375442	.	.	.	3.33	2.46	0.29980	.	0.000000	0.34291	N	0.004085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1471	8.0287	0.30453	0.0:0.8697:0.0:0.1303	.	.	.	.	X	369	.	ENSP00000364591:S369X	S	+	2	0	TSPYL2	53130969	0.999000	0.42202	0.958000	0.39756	0.980000	0.70556	2.110000	0.41873	0.787000	0.33731	0.513000	0.50165	TCA	TSPYL2	-	pfam_NAP_family		0.617	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	C	NM_022117		53114244	1	no_errors	ENST00000375442	ensembl	human	known	70_37	nonsense	SNP	0.994	G	G	53114244	C	G	53114244	4	3	140	1	0	0	0	0	0	1	0	0	16691	838	29	1	1120	1	TSPYL2	23	53114244	Nonsense_Mutation	SNP	C	TCGA-FU-A770-01A-11D-A33O-09	5806487	53114244	102156316	62	23018										
NXF3	56000	genome.wustl.edu	37	chrX	102338372	102338372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	tgccactgacattcttcagtGcataggcgatgctggcattc	10	11	2	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:102338372G>A	ENST00000395065.3	-	5	595	c.494C>T	c.(493-495)gCa>gTa	p.A165V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.A76V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	165	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATTCTTCAGTGCATAGGCGAT	0.463																																																	0													124	96	105					X																	102338372		2203	4300	6503	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.494C>T	X.37:g.102338372G>A	ENSP00000378504:p.Ala165Val		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.A165V	ENST00000395065.3	37	c.494	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650185	0.47362	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.56776	0.44;0.44	3.78	-0.356	0.12583	Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	0.344322	0.33023	N	0.005368	T	0.60586	0.2280	M	0.78637	2.42	0.09310	N	1	D;P;P	0.60160	0.987;0.9;0.941	P;P;P	0.62491	0.884;0.675;0.903	T	0.52555	-0.8560	10	0.56958	D	0.05	-2.2105	2.4945	0.04618	0.261:0.0:0.3287:0.4103	.	165;61;165	B4DYI1;E9PEY7;Q9H4D5	.;.;NXF3_HUMAN	V	165;76	ENSP00000378504:A165V;ENSP00000404347:A76V	ENSP00000378504:A165V	A	-	2	0	NXF3	102225028	0.363000	0.24989	0.000000	0.03702	0.011000	0.07611	1.883000	0.39658	-0.209000	0.10156	0.600000	0.82982	GCA	NXF3	-	pfam_Tap_RNA-bd		0.463	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	G	NM_022052		102338372	-1	no_errors	ENST00000395065	ensembl	human	known	70_37	missense	SNP	0.002	A	A	102338372	G	A	102338372	3	1	140	1	0	0	0	0	1	0	0	0	10809	1319	46	4	1161	4	NXF3	23	102338372	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	49224128	102338372	52932188	63	23019										
GPR50	9248	genome.wustl.edu	37	chrX	150348926	150348926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253968253968254	16	0.000923060496922519	2.41311475409836	3.87822014051522	2.14322691975841	0.0201131343656855	0.0722582975359812	9	acttcaacagctgcctcaacGctgtgatctacgggctcctc	8	15	3	1			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:150348926G>A	ENST00000218316.3	+	2	940	c.871G>A	c.(871-873)Gct>Act	p.A291T	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	291					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCTCAACGCTGTGATCTA	0.502																																																	0													110	106	107					X																	150348926		2032	4181	6213	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.871G>A	X.37:g.150348926G>A	ENSP00000218316:p.Ala291Thr		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.A291T	ENST00000218316.3	37	c.871	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131063	0.77549	.	.	ENSG00000102195	ENST00000218316	T	0.71817	-0.6	4.24	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.051546	0.85682	D	0.000000	T	0.81187	0.4770	M	0.91972	3.26	0.45087	D	0.998109	P	0.47034	0.889	P	0.50659	0.647	D	0.83595	0.0125	10	0.87932	D	0	-8.8181	11.1668	0.48547	0.0:0.184:0.816:0.0	.	291	Q13585	MTR1L_HUMAN	T	291	ENSP00000218316:A291T	ENSP00000218316:A291T	A	+	1	0	GPR50	150099584	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	6.623000	0.74238	0.713000	0.32060	-0.516000	0.04426	GCT	GPR50	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	G	NM_004224		150348926	1	no_errors	ENST00000218316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150348926	G	A	150348926	3	1	140	1	0	0	0	0	1	0	0	0	6716	1087	38	2	877	2	GPR50	23	150348926	Missense_Mutation	SNP	G	TCGA-FU-A770-01A-11D-A33O-09	48010554	150348926	4921634	64	23020										
HSPG2	3339	genome.wustl.edu	37	chr1	22169400	22169400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ggcctcgatgtagatgggctGggccagtcctggagctgtgg	18	9	0	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:22169400G>C	ENST00000374695.3	-	67	8852	c.8773C>G	c.(8773-8775)Cag>Gag	p.Q2925E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2925	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TAGATGGGCTGGGCCAGTCCT	0.642																																																	0													60	57	58					1																	22169400		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8773C>G	1.37:g.22169400G>C	ENSP00000363827:p.Gln2925Glu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.Q2925E	ENST00000374695.3	37	c.8773	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600762	0.13939	.	.	ENSG00000142798	ENST00000374695	T	0.41758	0.99	4.92	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.565442	0.13684	N	0.370018	T	0.32436	0.0829	N	0.22421	0.69	0.25310	N	0.989209	P;P	0.36183	0.542;0.536	P;B	0.44921	0.464;0.253	T	0.13737	-1.0498	10	0.02654	T	1	.	12.651	0.56761	0.0:0.0:0.6932:0.3068	.	865;2925	Q59EG0;P98160	.;PGBM_HUMAN	E	2925	ENSP00000363827:Q2925E	ENSP00000363827:Q2925E	Q	-	1	0	HSPG2	22041987	0.098000	0.21812	1.000000	0.80357	0.981000	0.71138	1.624000	0.37018	1.015000	0.39444	0.462000	0.41574	CAG	HSPG2	-	pfscan_Ig-like		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22169400	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.995	C	C	22169400	G	C	22169400	3	2	141	1	0	0	0	0	1	0	0	0	7450	1357	47	4	4526	4	HSPG2	1	22169400	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		22169400	227081221	1	23021										
HTR1D	3352	genome.wustl.edu	37	chr1	23519579	23519579	+	Nonstop_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	agagtcatcaccgaataagaCtaggaggccttccggaaagg	12	9	2	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:23519579C>A	ENST00000374619.1	-	1	1643	c.1134G>T	c.(1132-1134)taG>taT	p.*378Y	HTR1D_ENST00000314113.3_Nonstop_Mutation_p.*378Y	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	0					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCGAATAAGACTAGGAGGCCT	0.358																																																	0													47	48	48					1																	23519579		2201	4297	6498	SO:0001578	stop_lost	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1134G>T	1.37:g.23519579C>A				Nonstop_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.*378Y	ENST00000374619.1	37	c.1134	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	C	7.552	0.662914	0.14710	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	.	.	.	5.55	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3523	0.26697	0.0:0.7311:0.0:0.2689	.	.	.	.	Y	378	.	.	X	-	3	2	HTR1D	23392166	.	.	0.985000	0.45067	0.880000	0.50808	.	.	1.285000	0.44548	0.650000	0.86243	TAG	HTR1D	-	NULL		0.358	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	C	NM_000864		23519579	-1	no_errors	ENST00000314113	ensembl	human	known	70_37	nonstop	SNP	0.396	A	A	23519579	C	A	23519579	4	1	141	1	0	0	0	0	0	0	0	0	7458	576	20	4	3	4	HTR1D	1	23519579	Nonstop_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	1350179	23519579	225731042	2	23022										
GPR3	2827	genome.wustl.edu	37	chr1	27720959	27720959	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tacgcccaaatctgccgcatCgtctgccgccatgcccagca	8	18	2	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:27720959C>T	ENST00000374024.3	+	2	756	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	219					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGCCGCATCGTCTGCCGCC	0.587																																																	0													135	118	124					1																	27720959		2203	4300	6503	SO:0001819	synonymous_variant	2827			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.657C>T	1.37:g.27720959C>T			A8K570	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn	p.I219	ENST00000374024.3	37	c.657	CCDS303.1	1																																																																																			GPR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt		0.587	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1	C	NM_005281		27720959	1	no_errors	ENST00000374024	ensembl	human	known	70_37	silent	SNP	0.993	T	T	27720959	C	T	27720959	2	4	141	1	0	0	0	0	0	0	0	1	6705	874	31	1		1	GPR3	1	27720959	Silent	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	4201380	27720959	221529662	3	23023										
OSBPL9	114883	genome.wustl.edu	37	chr1	52238276	52238276	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ataagatctgctttattttaGacctgtttgattcacatgat	6	6	2	4			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:52238276G>A	ENST00000428468.1	+	14	1053		c.e14-1		OSBPL9_ENST00000531828.1_Splice_Site|OSBPL9_ENST00000462759.1_Splice_Site|OSBPL9_ENST00000371710.3_Splice_Site|OSBPL9_ENST00000337809.4_Splice_Site|OSBPL9_ENST00000361556.5_Splice_Site|OSBPL9_ENST00000371714.1_Splice_Site|OSBPL9_ENST00000530544.1_Splice_Site|OSBPL9_ENST00000435686.2_Splice_Site|OSBPL9_ENST00000453295.1_Splice_Site|OSBPL9_ENST00000447887.1_Splice_Site|OSBPL9_ENST00000486942.1_Splice_Site			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTTTATTTTAGACCTGTTTGA	0.408																																																	0													150	142	144					1																	52238276		2203	4300	6503	SO:0001630	splice_region_variant	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1052-1G>A	1.37:g.52238276G>A			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Splice_Site	SNP	-	e14-1	ENST00000428468.1	37	c.1106-1	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082289	0.20309	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	.	.	.	4.77	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3946	0.67003	0.0:0.0:0.8512:0.1488	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL9	52010864	1.000000	0.71417	0.999000	0.59377	0.067000	0.16453	9.221000	0.95188	1.218000	0.43458	-0.188000	0.12872	.	OSBPL9	-	-		0.408	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	G		Intron	52238276	1	no_errors	ENST00000371710	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	52238276	G	A	52238276	5	1	141	1	0	0	0	0	0	0	1	0	11308	956	33	1	1209	1	OSBPL9	1	52238276	Splice_Site	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	24517317	52238276	197012345	4	23024										
ZRANB2	9406	genome.wustl.edu	37	chr1	71535038	71535038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cgaactggaagaacttcttgAacgggacctggaacaacatg	11	9	1	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:71535038A>C	ENST00000370920.3	-	8	992	c.691T>G	c.(691-693)Tca>Gca	p.S231A	MIR186_ENST00000384988.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000477096.1_5'Flank|ZRANB2_ENST00000254821.6_Missense_Mutation_p.S231A|ZRANB2-AS1_ENST00000426999.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	231	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAACTTCTTGAACGGGACCTG	0.413																																																	0													96	96	96					1																	71535038		2203	4300	6503	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.691T>G	1.37:g.71535038A>C	ENSP00000359958:p.Ser231Ala		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.S231A	ENST00000370920.3	37	c.691	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031551	0.54790	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.66099	-0.19;-0.17	5.6	4.41	0.53225	.	0.056549	0.64402	D	0.000001	T	0.29716	0.0742	L	0.32530	0.975	0.51482	D	0.999928	B;B	0.15473	0.003;0.013	B;B	0.20955	0.008;0.032	T	0.13442	-1.0509	10	0.11182	T	0.66	.	10.8648	0.46849	0.8591:0.0:0.0:0.1409	.	231;231	O95218;O95218-2	ZRAB2_HUMAN;.	A	231	ENSP00000359958:S231A;ENSP00000254821:S231A	ENSP00000254821:S231A	S	-	1	0	ZRANB2	71307626	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.444000	0.73452	2.132000	0.65825	0.377000	0.23210	TCA	ZRANB2	-	pirsf_UCP037956_Znf_RanB2		0.413	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	A	NM_203350		71535038	-1	no_errors	ENST00000370920	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71535038	A	C	71535038	3	2	141	1	0	0	0	0	1	0	0	0	18253	246	9	5	351	5	ZRANB2	1	71535038	Missense_Mutation	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	19296762	71535038	177715583	5	23025										
HRNR	388697	genome.wustl.edu	37	chr1	152189237	152189237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cagacccatgttggccactgCtggaagaccgaccggagcca	12	14	0	2	rs200543988	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:152189237C>G	ENST00000368801.2	-	3	4943	c.4868G>C	c.(4867-4869)aGc>aCc	p.S1623T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1623					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCACTGCTGGAAGACCG	0.617																																																	0													5	1	3					1																	152189237		494	616	1110	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.4868G>C	1.37:g.152189237C>G	ENSP00000357791:p.Ser1623Thr		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1623T	ENST00000368801.2	37	c.4868	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558245	0.13436	.	.	ENSG00000197915	ENST00000368801	T	0.05199	3.48	4.35	-1.7	0.08159	.	.	.	.	.	T	0.01254	0.0041	L	0.48642	1.525	0.09310	N	1	B	0.30281	0.275	B	0.18263	0.021	T	0.46965	-0.9153	9	0.12766	T	0.61	.	6.3832	0.21546	0.0:0.3868:0.4467:0.1665	.	1623	Q86YZ3	HORN_HUMAN	T	1623	ENSP00000357791:S1623T	ENSP00000357791:S1623T	S	-	2	0	HRNR	150455861	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.035000	0.12205	-0.146000	0.11274	-0.241000	0.12123	AGC	HRNR	-	NULL		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152189237	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	G	G	152189237	C	G	152189237	3	3	141	1	0	0	0	0	1	0	0	0	7379	797	28	4	3688	4	HRNR	1	152189237	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	80654199	152189237	97061384	6	23026										
FCRL1	115350	genome.wustl.edu	37	chr1	157768000	157768000	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ggggtaggtgagttgaggtaGgtgaactcttggggtagagg	21	2	1	4	rs3811024	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:157768000G>T	ENST00000368176.3	-	8	1132	c.1065C>A	c.(1063-1065)acC>acA	p.T355T	FCRL1_ENST00000358292.3_Silent_p.T316T|FCRL1_ENST00000491942.1_Silent_p.T355T|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	355						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGTTGAGGTAGGTGAACTCTT	0.493																																					GBM(54;482 1003 11223 30131 35730)												0													116	111	112					1																	157768000		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1065C>A	1.37:g.157768000G>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T355	ENST00000368176.3	37	c.1065	CCDS1170.1	1																																																																																			FCRL1	-	NULL		0.493	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	G	NM_052938		157768000	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	silent	SNP	0.000	T	T	157768000	G	T	157768000	2	4	141	1	0	0	0	0	0	0	0	1	5812	987	35	4		4	FCRL1	1	157768000	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	5578763	157768000	91482621	7	23027										
ASTN1	460	genome.wustl.edu	37	chr1	176857336	176857336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	agctcatggtagcctcctgcAagagctgcataagagaacag	11	10	1	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:176857336A>G	ENST00000367654.3	-	18	3180	c.2969T>C	c.(2968-2970)tTg>tCg	p.L990S	ASTN1_ENST00000361833.2_Missense_Mutation_p.L982S|ASTN1_ENST00000367657.3_Missense_Mutation_p.L982S|ASTN1_ENST00000424564.2_Missense_Mutation_p.L982S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	990					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCCTCCTGCAAGAGCTGCAT	0.522																																																	0													80	71	74					1																	176857336		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2969T>C	1.37:g.176857336A>G	ENSP00000356626:p.Leu990Ser		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L990S	ENST00000367654.3	37	c.2969		1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245537	0.80024	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.48642	1.525	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.56372	-0.7990	10	0.87932	D	0	-15.0598	15.453	0.75290	1.0:0.0:0.0:0.0	.	982;982	O14525-2;B1AJS1	.;.	S	982;982;990;982;982	ENSP00000356629:L982S;ENSP00000354536:L982S;ENSP00000356626:L990S;ENSP00000395041:L982S	ENSP00000354536:L982S	L	-	2	0	ASTN1	175123959	1.000000	0.71417	0.983000	0.44433	0.800000	0.45204	8.789000	0.91839	2.128000	0.65567	0.477000	0.44152	TTG	ASTN1	-	smart_MACPF		0.522	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		A	NM_004319		176857336	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176857336	A	G	176857336	3	3	141	1	0	0	0	0	1	0	0	0	1065	131	5	5	967	5	ASTN1	1	176857336	Missense_Mutation	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	19089336	176857336	72393285	8	23028										
HMCN1	83872	genome.wustl.edu	37	chr1	186050401	186050401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	aggtcaccgtgctggtgaacAagagtgcactgatagagtgt	14	7	1	4			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:186050401A>G	ENST00000271588.4	+	56	8891	c.8662A>G	c.(8662-8664)Aag>Gag	p.K2888E	HMCN1_ENST00000367492.2_Missense_Mutation_p.K2888E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2888	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGGTGAACAAGAGTGCACT	0.468																																																	0													167	159	162					1																	186050401		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8662A>G	1.37:g.186050401A>G	ENSP00000271588:p.Lys2888Glu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K2888E	ENST00000271588.4	37	c.8662	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998782	0.35226	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64618	-0.11;-0.11	5.86	2.1	0.27182	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228638	0.51477	D	0.000089	T	0.33789	0.0875	N	0.11131	0.1	0.43412	D	0.995553	B	0.28584	0.216	B	0.29353	0.101	T	0.26087	-1.0113	10	0.02654	T	1	.	8.2715	0.31846	0.5387:0.3955:0.0658:0.0	.	2888	Q96RW7	HMCN1_HUMAN	E	2888	ENSP00000271588:K2888E;ENSP00000356462:K2888E	ENSP00000271588:K2888E	K	+	1	0	HMCN1	184317024	1.000000	0.71417	0.177000	0.23020	0.918000	0.54935	2.101000	0.41787	0.095000	0.17434	0.533000	0.62120	AAG	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	A	NM_031935		186050401	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.999	G	G	186050401	A	G	186050401	3	3	141	1	0	0	0	0	1	0	0	0	7240	131	5	5	8884	5	HMCN1	1	186050401	Missense_Mutation	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	9193065	186050401	63200220	9	23029										
LYST	1130	genome.wustl.edu	37	chr1	235973634	235973634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tgaatctgaggtggagagctGtgtctttcttgcatctctta	11	7	4	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:235973634G>T	ENST00000389794.3	-	5	658	c.484C>A	c.(484-486)Cag>Aag	p.Q162K	LYST_ENST00000536965.1_Missense_Mutation_p.Q162K|LYST_ENST00000389793.2_Missense_Mutation_p.Q162K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	162					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGGAGAGCTGTGTCTTTCTT	0.403																																																	0													150	146	148					1																	235973634		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.484C>A	1.37:g.235973634G>T	ENSP00000374444:p.Gln162Lys		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q162K	ENST00000389794.3	37	c.484	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425608	0.62733	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.12984	2.63;2.63;2.63	5.62	5.62	0.85841	.	0.581042	0.18870	N	0.128864	T	0.15955	0.0384	L	0.56769	1.78	0.50171	D	0.999852	B;P	0.36162	0.3;0.54	B;B	0.30029	0.081;0.11	T	0.04242	-1.0966	10	0.27082	T	0.32	.	17.8482	0.88737	0.0:0.0:1.0:0.0	.	162;162	Q99698-3;Q99698	.;LYST_HUMAN	K	162	ENSP00000374444:Q162K;ENSP00000374443:Q162K;ENSP00000438315:Q162K	ENSP00000374443:Q162K	Q	-	1	0	LYST	234040257	1.000000	0.71417	0.980000	0.43619	0.966000	0.64601	9.102000	0.94226	2.656000	0.90262	0.563000	0.77884	CAG	LYST	-	NULL		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235973634	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	235973634	G	T	235973634	3	4	141	1	0	0	0	0	1	0	0	0	9151	1386	48	4	11117	4	LYST	1	235973634	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	49923233	235973634	13276987	10	23030										
GEMIN6	79833	genome.wustl.edu	37	chr2	39008896	39008896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cccatcactgaacagggagaCgctccaaggactctctgtgt	10	13	2	2	rs200834111		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:39008896C>T	ENST00000281950.3	+	3	482	c.366C>T	c.(364-366)gaC>gaT	p.D122D	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	122					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				AACAGGGAGACGCTCCAAGGA	0.493													T|||	1	0.000199681	8e-04	0	5008	,	,		18516	0		0	False		,,,				2504	0																0								T		1,4405	826.1+/-416.6	0,1,2202	85	81	82		366	-9.2	0	2		82	0,8600		0,0,4300	no	coding-synonymous	GEMIN6	NM_024775.9		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		122/168	39008896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79833			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.366C>T	2.37:g.39008896C>T			B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Silent	SNP	pfam_Gemin6	p.D122	ENST00000281950.3	37	c.366	CCDS1799.1	2																																																																																			GEMIN6	-	pfam_Gemin6		0.493	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN6	HGNC	protein_coding	OTTHUMT00000250441.3	C			39008896	1	no_errors	ENST00000281950	ensembl	human	known	70_37	silent	SNP	0.000	T	T	39008896	C	T	39008896	2	4	141	1	0	0	0	0	0	0	0	1	6351	535	19	2		2	GEMIN6	2	39008896	Silent	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		39008896	204190477	11	23031										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tgggagaaattcacctgtctCttcatctagttgtaactgag	9	8	4	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	20	Substitution - Missense(20)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)											147	146	146					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79K	ENST00000397062.3	37	c.235	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG	NFE2L2	-	NULL		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098810	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178098810	C	T	178098810	3	4	141	1	0	0	0	0	1	0	0	0	10392	922	32	1	1598	1	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	139089914	178098810	65100563	12	23032										
TTN	7273	genome.wustl.edu	37	chr2	179430904	179430904	+	Frame_Shift_Del	DEL	T	T	-													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cagcatcatttctatcacagTtatctattgatagttgggta							TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:179430904delT	ENST00000591111.1	-	276	75256	c.75032delA	c.(75031-75033)aacfs	p.N25011fs	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.N26652fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.N17587fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.N17779fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.N24084fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.N17712fs			Q8WZ42	TITIN_HUMAN	titin	25011	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTATCACAGTTATCTATTGA	0.398																																																	0													129	126	127					2																	179430904		1862	4095	5957	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75032delA	2.37:g.179430904delT	ENSP00000465570:p.Asn25011fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N24084fs	ENST00000591111.1	37	c.72251		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179430904	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	179430904	T	-	179430904	7	5	141	1	0	1	0	1	0	0	0	0	16766	1725	60	0	28172	0	TTN	2	179430904	Frame_Shift_Del	DEL	T	TCGA-HG-A2PA-01A-11D-A20U-09	1332094	179430904	63768469	13	23033										
TTN	7273	genome.wustl.edu	37	chr2	179584117	179584117	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cggcactccaaaacaactgaGgcccccaggatggcattcac	9	15	1	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:179584117G>T	ENST00000591111.1	-	81	23273	c.23049C>A	c.(23047-23049)gcC>gcA	p.A7683A	TTN_ENST00000589042.1_Silent_p.A8000A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A6756A|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13227	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAACTGAGGCCCCCAGGA	0.502																																																	0													85	88	87					2																	179584117		1898	4115	6013	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23049C>A	2.37:g.179584117G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A6756	ENST00000591111.1	37	c.20268		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179584117	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.002	T	T	179584117	G	T	179584117	2	4	141	1	0	0	0	0	0	0	0	1	16766	987	35	4		4	TTN	2	179584117	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	153213	179584117	63615256	14	23034										
FSIP2	401024	genome.wustl.edu	37	chr2	186668590	186668592	+	In_Frame_Del	DEL	AGT	AGT	-													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	aatatgggaataaaaaacagAgtatgatttcagcaaaagat							TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	AGT	AGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:186668590_186668592delAGT	ENST00000424728.1	+	17	14557_14559	c.14557_14559delAGT	c.(14557-14559)agtdel	p.S4853del	FSIP2_ENST00000343098.5_In_Frame_Del_p.S4942del			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4853										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAAAAACAGAGTATGATTTCAG	0.261																																																	0																																										SO:0001651	inframe_deletion	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.14557_14559delAGT	2.37:g.186668590_186668592delAGT	ENSP00000401306:p.Ser4853del		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	In_Frame_Del	DEL	NULL	p.S4942in_frame_del	ENST00000424728.1	37	c.14824_14826		2																																																																																			FSIP2	-	NULL		0.261	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	AGT	NM_173651		186668592	1	no_errors	ENST00000343098	ensembl	human	known	70_37	in_frame_del	DEL	0.319:0.208:0.098	-	-	186668592	AGT	-	186668590	7	5	141	1	0	1	0	1	0	0	0	0	6093	304	11	0	14890	0	FSIP2	2	186668590	In_Frame_Del	DEL	AGT	TCGA-HG-A2PA-01A-11D-A20U-09	7084473	186668590	56530783	15	23035										
PTH2R	5746	genome.wustl.edu	37	chr2	209358187	209358187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ccaagatcgccagcagacagCctgacagccacatcacttta	7	15	1	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:209358187C>T	ENST00000272847.2	+	13	1669	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	486					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CAGCAGACAGCCTGACAGCCA	0.577																																																	0													67	53	58					2																	209358187		2203	4300	6503	SO:0001583	missense	5746			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1456C>T	2.37:g.209358187C>T	ENSP00000272847:p.Pro486Ser		Q8N429	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P486S	ENST00000272847.2	37	c.1456	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579166	0.00879	.	.	ENSG00000144407	ENST00000272847	T	0.61742	0.08	5.64	1.42	0.22433	.	0.458627	0.16091	U	0.230057	T	0.41213	0.1149	L	0.43152	1.355	0.25084	N	0.990901	B;B	0.16396	0.009;0.017	B;B	0.12837	0.008;0.002	T	0.20140	-1.0284	9	.	.	.	.	3.0489	0.06162	0.2904:0.3749:0.2514:0.0833	.	375;486	B4DFN8;P49190	.;PTH2R_HUMAN	S	486	ENSP00000272847:P486S	.	P	+	1	0	PTH2R	209066432	0.000000	0.05858	0.014000	0.15608	0.019000	0.09904	-0.035000	0.12205	0.271000	0.22005	-0.216000	0.12614	CCT	PTH2R	-	NULL		0.577	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2	C	NM_005048		209358187	1	no_errors	ENST00000272847	ensembl	human	known	70_37	missense	SNP	0.807	T	T	209358187	C	T	209358187	3	4	141	1	0	0	0	0	1	0	0	0	12788	739	26	4	1506	4	PTH2R	2	209358187	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	22689597	209358187	33841186	16	23036										
ERBB4	2066	genome.wustl.edu	37	chr2	212530163	212530163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tttttccacacagtttgggcCatctttaaaatgagagcact	7	9	1	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:212530163C>T	ENST00000342788.4	-	15	2066	c.1756G>A	c.(1756-1758)Ggc>Agc	p.G586S	ERBB4_ENST00000436443.1_Missense_Mutation_p.G586S|ERBB4_ENST00000402597.1_Missense_Mutation_p.G586S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	586	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGTTTGGGCCATCTTTAAAA	0.423										TSP Lung(8;0.080)																																							0													115	105	108					2																	212530163		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1756G>A	2.37:g.212530163C>T	ENSP00000342235:p.Gly586Ser		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G586S	ENST00000342788.4	37	c.1756	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326959|4.326959	0.81690|0.81690	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|.	0.85773|.	-2.03;-2.03;-2.03|.	5.26|5.26	4.37|4.37	0.52481|0.52481	Growth factor, receptor (1);|.	0.139652|.	0.64402|.	D|.	0.000004|.	T|T	0.69602|0.69602	0.3129|0.3129	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.992;0.978;0.997;0.998;0.997|.	D;P;D;D;D|.	0.72982|.	0.946;0.806;0.979;0.968;0.929|.	T|T	0.68754|0.68754	-0.5325|-0.5325	10|5	0.54805|.	T|.	0.06|.	.|.	15.4963|15.4963	0.75653|0.75653	0.1396:0.8604:0.0:0.0|0.1396:0.8604:0.0:0.0	.|.	586;586;445;586;586|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	S|I	586|585	ENSP00000342235:G586S;ENSP00000403204:G586S;ENSP00000385565:G586S|.	ENSP00000342235:G586S|.	G|M	-|-	1|3	0|0	ERBB4|ERBB4	212238408|212238408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.770000|7.770000	0.85390|0.85390	1.331000|1.331000	0.45412|0.45412	0.655000|0.655000	0.94253|0.94253	GGC|ATG	ERBB4	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.423	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	C	NM_001042599		212530163	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	212530163	C	T	212530163	3	4	141	1	0	0	0	0	1	0	0	0	5221	594	21	4	2226	4	ERBB4	2	212530163	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	3171976	212530163	30669210	17	23037										
ANO7	50636	genome.wustl.edu	37	chr2	242149012	242149012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tccctgagaggagccgcgcgCgccgcatgctggccggctct	15	16	1	1	rs375780942		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:242149012C>T	ENST00000274979.8	+	13	1586	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ANO7_ENST00000402430.3_Missense_Mutation_p.R494C	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	495					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GAGCCGCGCGCGCCGCATGCT	0.677																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	46	50	49		1483	0.7	0.1	2		49	0,8600		0,0,4300	no	missense	ANO7	NM_001001891.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	495/934	242149012	1,13005	2203	4300	6503	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1483C>T	2.37:g.242149012C>T	ENSP00000274979:p.Arg495Cys		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R495C	ENST00000274979.8	37	c.1483	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100015	0.20552	2.27E-4	0.0	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.63096	-0.02;-0.02	3.09	0.724	0.18236	.	.	.	.	.	T	0.63343	0.2503	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	P	0.56916	0.809	T	0.51616	-0.8683	9	0.52906	T	0.07	.	4.7053	0.12846	0.5535:0.3228:0.0:0.1236	.	495	Q6IWH7	ANO7_HUMAN	C	495;494	ENSP00000274979:R495C;ENSP00000385418:R494C	ENSP00000274979:R495C	R	+	1	0	ANO7	241797685	0.000000	0.05858	0.130000	0.21974	0.290000	0.27261	-0.329000	0.07935	0.345000	0.23873	0.306000	0.20318	CGC	ANO7	-	pfam_Anoctamin		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	C	NM_001001891		242149012	1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	0.017	T	T	242149012	C	T	242149012	3	4	141	1	0	0	0	0	1	0	0	0	702	768	27	2	1605	2	ANO7	2	242149012	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	29618849	242149012	1050361	18	23038										
TRAK1	22906	genome.wustl.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGA													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	caggagccgccagcggccacINSggaggaggaggaggaggagg					rs10634555|rs35624871		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					GBM(44;195 884 22595 31865 41850)												1	Deletion - In frame(1)	kidney(1)																																								SO:0001627	intron_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.634in_frame_insE	ENST00000327628.5	37	c.1889_1890	CCDS43072.1	3																																																																																			TRAK1	-	NULL		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	NM_014965		42251578	1	no_errors	ENST00000341421	ensembl	human	known	70_37	in_frame_ins	INS	0.010:0.044	GGA	GGA	42251578	-	GGA	42251577	6	5	141	0	1	1	1	0	0	0	0	0	16480	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-HG-A2PA-01A-11D-A20U-09		42251577	155770853	19	23039										
CDCP1	64866	genome.wustl.edu	37	chr3	45132717	45132718	+	Missense_Mutation	DNP	GC	GC	AG													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	agcaggtctagctgcttgccGctcgtggggctgcagttaga					rs144886071	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:45132717_45132718GC>AG	ENST00000296129.1	-	7	2074_2075	c.1940_1941GC>CT	c.(1939-1941)aGC>aCT	p.S647T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	647						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCTGCTTGCCGCTCGTGGGGCT	0.554																																																	0																																										SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1940_1941delinsAG	3.37:g.45132717_45132718delinsAG	ENSP00000296129:p.Ser647Thr		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent|Missense_Mutation	SNP	superfamily_CUB	p.S647|p.S647T	ENST00000296129.1	37	c.1941|c.1940	CCDS2727.1	3																																																																																			CDCP1	-	NULL		0.554	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	G|C	NM_022842		45132717|45132718	-1	no_errors	ENST00000296129	ensembl	human	known	70_37	silent|missense	SNP	0.000|0.003	A|G	AG	45132718	GC	AG	45132717	3	1	141	1	0	0	0	0	1	0	0	0	3098	1078	38	2	581	2	CDCP1	3	45132717	Missense_Mutation	DNP	GC	TCGA-HG-A2PA-01A-11D-A20U-09	2881140	45132717	152889713	20	23040										
IGSF10	285313	genome.wustl.edu	37	chr3	151155402	151155402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cgctctctccaccttcatttCgggccacacagataaagtcg	7	15	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:151155402C>T	ENST00000282466.3	-	6	6946	c.6947G>A	c.(6946-6948)cGa>cAa	p.R2316Q	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2316	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTTCATTTCGGGCCACACA	0.418																																																	0													132	130	131					3																	151155402		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6947G>A	3.37:g.151155402C>T	ENSP00000282466:p.Arg2316Gln		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R2316Q	ENST00000282466.3	37	c.6947	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890995	0.72524	.	.	ENSG00000152580	ENST00000282466	T	0.66460	-0.21	5.77	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315823	0.22779	N	0.055746	T	0.61515	0.2353	L	0.55743	1.74	0.44652	D	0.997637	D;B	0.54047	0.964;0.308	P;B	0.46796	0.527;0.089	T	0.55829	-0.8079	10	0.40728	T	0.16	.	7.5076	0.27553	0.0:0.6807:0.1203:0.199	.	2316;343	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	Q	2316	ENSP00000282466:R2316Q	ENSP00000282466:R2316Q	R	-	2	0	IGSF10	152638092	0.994000	0.37717	0.929000	0.37066	0.985000	0.73830	2.449000	0.44935	0.066000	0.16515	0.591000	0.81541	CGA	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151155402	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.999	T	T	151155402	C	T	151155402	3	4	141	1	0	0	0	0	1	0	0	0	7617	884	31	1	928	1	IGSF10	3	151155402	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	106022685	151155402	46867028	21	23041										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	aaaagtaattgaaccagtagGcaaccgtgaagaaaagatcc	9	7	0	4			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAACCAGTAGGCAACCGTGAA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(2)											90	86	87					3																	178916930		1825	4072	5897	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G106V	ENST00000263967.3	37	c.317	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178916930	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178916930	G	T	178916930	3	4	141	1	0	0	0	0	1	0	0	0	11937	1203	42	4	319	4	PIK3CA	3	178916930	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	27761528	178916930	19105500	22	23042										
LPHN3	23284	genome.wustl.edu	37	chr4	62761547	62761547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cttgggtcaatcatataacaCagaaggtaaatcttgtgact	8	7	3	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:62761547C>G	ENST00000514591.1	+	10	2007	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	LPHN3_ENST00000506720.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000512091.2_Missense_Mutation_p.Q560E|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q560E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	560					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCATATAACACAGAAGGTAAA	0.378																																																	0													73	67	69					4																	62761547		1830	4083	5913	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1678C>G	4.37:g.62761547C>G	ENSP00000422533:p.Gln560Glu		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Q628E	ENST00000514591.1	37	c.1882	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.818716|2.818716	0.50633|0.50633	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.09350|0.10005	2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99|2.92	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.123452|.	0.56097|.	D|.	0.000035|.	T|T	0.28001|0.28001	0.0690|0.0690	L|L	0.58810|0.58810	1.83|1.83	0.44282|0.44282	D|D	0.997148|0.997148	B;B|.	0.30584|.	0.286;0.242|.	B;B|.	0.35655|.	0.207;0.131|.	T|T	0.00066|0.00066	-1.2145|-1.2145	10|7	0.56958|0.72032	D|D	0.05|0.01	.|.	18.6247|18.6247	0.91333|0.91333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	560;560|.	E9PE04;Q9HAR2-2|.	.;.|.	E|R	560;560;628;628;560;560;560;560;560;628;628;628;560;560;560;628;628;560|30	ENSP00000423388:Q560E;ENSP00000422533:Q560E;ENSP00000423787:Q628E;ENSP00000425033:Q628E;ENSP00000424120:Q560E;ENSP00000439831:Q560E;ENSP00000421476:Q628E;ENSP00000424030:Q628E;ENSP00000421372:Q628E;ENSP00000425201:Q560E;ENSP00000423434:Q560E;ENSP00000421627:Q560E;ENSP00000420931:Q628E;ENSP00000425884:Q628E;ENSP00000424258:Q560E|ENSP00000424402:T30R	ENSP00000280009:Q560E|ENSP00000424402:T30R	Q|T	+|+	1|2	0|0	LPHN3|LPHN3	62444142|62444142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.801000|4.801000	0.62532|0.62532	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	CAG|ACA	LPHN3	-	pfam_DUF3497		0.378	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	C			62761547	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62761547	C	G	62761547	3	3	141	1	0	0	0	0	1	0	0	0	8940	479	17	4	1708	4	LPHN3	4	62761547	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		62761547	128392729	23	23043										
PDHA2	5161	genome.wustl.edu	37	chr4	96762259	96762259	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	atcctataataattctccaaGatagaatggtaaacagcaag	6	7	1	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:96762259G>T	ENST00000295266.4	+	1	1021	c.958G>T	c.(958-960)Gat>Tat	p.D320Y		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	320					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATTCTCCAAGATAGAATGGT	0.418																																																	0													77	77	77					4																	96762259		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.958G>T	4.37:g.96762259G>T	ENSP00000295266:p.Asp320Tyr		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.D320Y	ENST00000295266.4	37	c.958	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062371	0.36373	.	.	ENSG00000163114	ENST00000295266	D	0.97455	-4.39	4.91	3.18	0.36537	Dehydrogenase, E1 component (1);	0.155857	0.56097	D	0.000038	D	0.98074	0.9365	M	0.85373	2.75	0.58432	D	0.999998	D	0.76494	0.999	D	0.72625	0.978	D	0.97873	1.0287	10	0.87932	D	0	-23.3849	9.4318	0.38615	0.1749:0.0:0.8251:0.0	.	320	P29803	ODPAT_HUMAN	Y	320	ENSP00000295266:D320Y	ENSP00000295266:D320Y	D	+	1	0	PDHA2	96981282	1.000000	0.71417	0.018000	0.16275	0.306000	0.27790	4.922000	0.63404	0.785000	0.33685	0.467000	0.42956	GAT	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.418	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	G			96762259	1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	0.967	T	T	96762259	G	T	96762259	3	4	141	1	0	0	0	0	1	0	0	0	11689	942	33	3	960	3	PDHA2	4	96762259	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	34000712	96762259	94392017	24	23044										
RANBP17	64901	genome.wustl.edu	37	chr5	170722906	170722906	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	atcagtatttcagtgaactgAgagcaagtttgataaacagc	9	6	2	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr5:170722906A>C	ENST00000523189.1	+	27	3222	c.3058A>C	c.(3058-3060)Aga>Cga	p.R1020R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1020					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTGAACTGAGAGCAAGTTT	0.532			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													129	123	125					5																	170722906		2203	4300	6503	SO:0001819	synonymous_variant	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3058A>C	5.37:g.170722906A>C			Q8IU74	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R1020	ENST00000523189.1	37	c.3058	CCDS34287.1	5																																																																																			RANBP17	-	NULL		0.532	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	A	NM_022897		170722906	1	no_errors	ENST00000523189	ensembl	human	known	70_37	silent	SNP	1.000	C	C	170722906	A	C	170722906	2	2	141	1	0	0	0	0	0	0	0	1	13057	296	11	5		5	RANBP17	5	170722906	Silent	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09		170722906	10192354	25	23045										
GSTA2	2939	genome.wustl.edu	37	chr6	52617759	52617759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cagaagaaggatcatttcacCcaaatctgctataccttcta	5	11	4	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:52617759C>T	ENST00000493422.1	-	5	462	c.307G>A	c.(307-309)Ggt>Agt	p.G103S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	103	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	ATCATTTCACCCAAATCTGCT	0.363																																																	0													166	155	159					6																	52617759		2203	4300	6503	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.307G>A	6.37:g.52617759C>T	ENSP00000420168:p.Gly103Ser		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.G103S	ENST00000493422.1	37	c.307	CCDS4944.1	6	.	.	.	.	.	.	.	.	.	.	N	6.143	0.394656	0.11638	.	.	ENSG00000244067	ENST00000493422	T	0.11169	2.8	2.26	-4.51	0.03483	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.545720	0.03683	N	0.245918	T	0.02047	0.0064	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.40515	-0.9559	10	0.19147	T	0.46	.	3.5835	0.07962	0.2732:0.3903:0.0:0.3365	.	103	P09210	GSTA2_HUMAN	S	103	ENSP00000420168:G103S	ENSP00000420168:G103S	G	-	1	0	GSTA2	52725718	0.000000	0.05858	0.029000	0.17559	0.461000	0.32589	-0.246000	0.08878	-1.730000	0.01362	-0.864000	0.03007	GGT	GSTA2	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.363	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA2	HGNC	protein_coding	OTTHUMT00000043589.1	C	NM_000846		52617759	-1	no_errors	ENST00000493422	ensembl	human	known	70_37	missense	SNP	0.037	T	T	52617759	C	T	52617759	3	4	141	1	0	0	0	0	1	0	0	0	6851	623	22	4	373	4	GSTA2	6	52617759	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		52617759	118497308	26	23046										
PPIL6	285755	genome.wustl.edu	37	chr6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ggaaaaatcctcagtgagtgCgtcataaagtgcagagggtt	13	6	2	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:109752404C>T	ENST00000521072.2	-	3	956	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_ENST00000424445.2_Missense_Mutation_p.A94T|PPIL6_ENST00000524031.1_5'UTR|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.A126T	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	126					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393																																																	0													110	112	111					6																	109752404		2203	4300	6503	SO:0001583	missense	285755				CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.376G>A	6.37:g.109752404C>T	ENSP00000427929:p.Ala126Thr		A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.A126T	ENST00000521072.2	37	c.376	CCDS5074.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.036105|4.036105	0.75617|0.75617	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.31247|.	2.08;2.06;2.07;1.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71879|0.71879	0.3392|0.3392	M|M	0.77820|0.77820	2.39|2.39	0.54753|0.54753	D|D	0.999987|0.999987	D;D;D|.	0.63880|.	0.987;0.993;0.987|.	P;P;P|.	0.46320|.	0.512;0.512;0.512|.	T|T	0.72839|0.72839	-0.4171|-0.4171	10|5	0.59425|.	D|.	0.04|.	-15.54|-15.54	17.6308|17.6308	0.88106|0.88106	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	126;94;126|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	T|H	94;126;126;83|65;73	ENSP00000407731:A94T;ENSP00000392257:A126T;ENSP00000427929:A126T;ENSP00000411731:A83T|.	ENSP00000411731:A83T|.	A|R	-|-	1|2	0|0	PPIL6|PPIL6	109859097|109859097	0.998000|0.998000	0.40836|0.40836	0.106000|0.106000	0.21319|0.21319	0.012000|0.012000	0.07955|0.07955	4.021000|4.021000	0.57196|0.57196	2.441000|2.441000	0.82636|0.82636	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PPIL6	-	NULL		0.393	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	HGNC	protein_coding	OTTHUMT00000089003.4	C			109752404	-1	no_errors	ENST00000521072	ensembl	human	known	70_37	missense	SNP	0.976	T	T	109752404	C	T	109752404	3	4	141	1	0	0	0	0	1	0	0	0	12358	768	27	2	665	2	PPIL6	6	109752404	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	57134645	109752404	61362663	27	23047										
HBS1L	10767	genome.wustl.edu	37	chr6	135358772	135358772	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tatttctttgaatgcagaatCatctttggaaatgcattcag	7	6	4	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:135358772C>A	ENST00000367837.5	-	4	637				HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.D275Y|HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AATGCAGAATCATCTTTGGAA	0.343																																																	0													53	41	45					6																	135358772		692	1591	2283	SO:0001627	intron_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+1938G>T	6.37:g.135358772C>A			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916	p.D275Y	ENST00000367837.5	37	c.823	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119721	0.20877	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.34	3.5	0.40072	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.26067	N	0.981271	D	0.54964	0.969	P	0.55999	0.789	T	0.26503	-1.0101	7	0.87932	D	0	.	4.5422	0.12064	0.0:0.5069:0.1541:0.339	.	275	Q9Y450-2	.	Y	275	.	ENSP00000356796:D275Y	D	-	1	0	HBS1L	135400465	0.996000	0.38824	0.127000	0.21898	0.594000	0.36715	0.567000	0.23608	0.579000	0.29504	0.650000	0.86243	GAT	HBS1L	-	NULL		0.343	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135358772	-1	no_errors	ENST00000367822	ensembl	human	known	70_37	missense	SNP	0.030	A	A	135358772	C	A	135358772	1	1	141	0	1	0	0	0	0	0	0	0	7007	826	29	3		3	HBS1L	6	135358772	Intron	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	25606368	135358772	35756295	28	23048										
STXBP5	134957	genome.wustl.edu	37	chr6	147680232	147680232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	catttcagatgtaaaggataActcctttagccgatcacgga	8	9	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:147680232A>G	ENST00000321680.6	+	23	2318	c.2318A>G	c.(2317-2319)aAc>aGc	p.N773S	STXBP5_ENST00000367481.3_Missense_Mutation_p.N737S|STXBP5_ENST00000367480.3_Missense_Mutation_p.N720S|STXBP5_ENST00000179882.6_Missense_Mutation_p.N428S	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	773					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTAAAGGATAACTCCTTTAGC	0.343																																																	0													64	65	65					6																	147680232		2203	4300	6503	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2318A>G	6.37:g.147680232A>G	ENSP00000321826:p.Asn773Ser		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.N773S	ENST00000321680.6	37	c.2318	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347827	0.41599	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.47	5.47	0.80525	.	0.045027	0.85682	D	0.000000	T	0.12305	0.0299	L	0.48362	1.52	0.58432	D	0.999998	B;B;B	0.26081	0.141;0.108;0.108	B;B;B	0.22753	0.041;0.027;0.025	T	0.04946	-1.0916	10	0.22109	T	0.4	.	15.5559	0.76192	1.0:0.0:0.0:0.0	.	737;773;428	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	S	112;737;773;720;428;97	ENSP00000356451:N737S;ENSP00000321826:N773S;ENSP00000356450:N720S;ENSP00000179882:N428S;ENSP00000376112:N97S	ENSP00000179882:N428S	N	+	2	0	STXBP5	147721925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.905000	0.69893	2.078000	0.62432	0.533000	0.62120	AAC	STXBP5	-	NULL		0.343	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	A			147680232	1	no_errors	ENST00000321680	ensembl	human	known	70_37	missense	SNP	1.000	G	G	147680232	A	G	147680232	3	3	141	1	0	0	0	0	1	0	0	0	15386	43	2	5	2408	5	STXBP5	6	147680232	Missense_Mutation	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	12321460	147680232	23434835	29	23049										
SYNE1	23345	genome.wustl.edu	37	chr6	152510392	152510392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tagaacttatcttacctggtGgcatagttcttcccactgcc	7	12	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:152510392G>A	ENST00000367255.5	-	128	23897	c.23296C>T	c.(23296-23298)Cac>Tac	p.H7766Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.H7378Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H7695Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2290Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H7766Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H7695Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7766					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTGGTGGCATAGTTCT	0.448										HNSCC(10;0.0054)																																							0													118	109	112					6																	152510392		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23296C>T	6.37:g.152510392G>A	ENSP00000356224:p.His7766Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H7766Y	ENST00000367255.5	37	c.23296	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103734	0.37145	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.99	5.99	0.97316	.	0.097957	0.44902	D	0.000410	T	0.60170	0.2248	M	0.82630	2.6	0.58432	D	0.999999	D;D;D;D	0.61697	0.97;0.97;0.99;0.983	P;P;D;P	0.68192	0.904;0.904;0.956;0.904	T	0.62129	-0.6919	10	0.62326	D	0.03	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	7766;7766;7695;7695	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Y	7766;412;7695;7766;7695;7378;2290;688	ENSP00000356224:H7766Y;ENSP00000356226:H412Y;ENSP00000396024:H7695Y;ENSP00000265368:H7766Y;ENSP00000390975:H7695Y;ENSP00000341887:H7378Y;ENSP00000349276:H2290Y;ENSP00000356220:H688Y	ENSP00000265368:H7766Y	H	-	1	0	SYNE1	152552085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.929000	0.87595	2.840000	0.97914	0.655000	0.94253	CAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152510392	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152510392	G	A	152510392	3	1	141	1	0	0	0	0	1	0	0	0	15475	1348	47	4	3246	4	SYNE1	6	152510392	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	4830160	152510392	18604675	30	23050										
C6orf70	55780	genome.wustl.edu	37	chr6	170162585	170162585	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	actggacttaggaatgttttTgccacacttaacagatgtcc	8	9	0	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:170162585T>C	ENST00000366773.3	+	9	951	c.918T>C	c.(916-918)ttT>ttC	p.F306F	ERMARD_ENST00000588451.1_Silent_p.F180F|ERMARD_ENST00000392095.4_Silent_p.F180F|ERMARD_ENST00000418781.3_Silent_p.F306F|ERMARD_ENST00000366772.2_Silent_p.F306F	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	306					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GGAATGTTTTTGCCACACTTA	0.383																																																	0													151	143	146					6																	170162585		2203	4300	6503	SO:0001819	synonymous_variant	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.918T>C	6.37:g.170162585T>C			B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	NULL	p.F306	ENST00000366773.3	37	c.918	CCDS34576.1	6																																																																																			C6orf70	-	NULL		0.383	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	T	NM_018341		170162585	1	no_errors	ENST00000366773	ensembl	human	known	70_37	silent	SNP	0.741	C	C	170162585	T	C	170162585	2	2	141	1	0	0	0	0	0	0	0	1	2375	1809	63	5		5	C6orf70	6	170162585	Silent	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	17652193	170162585	952482	31	23051										
THSD7A	221981	genome.wustl.edu	37	chr7	11419307	11419307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cggtgggttacaagacctgtCggcatcaggctggctcatca	13	11	3	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr7:11419307C>T	ENST00000423059.4	-	25	4791	c.4540G>A	c.(4540-4542)Gac>Aac	p.D1514N	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1514					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAAGACCTGTCGGCATCAGGC	0.468										HNSCC(18;0.044)																																							0													74	74	74					7																	11419307		2001	4159	6160	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4540G>A	7.37:g.11419307C>T	ENSP00000406482:p.Asp1514Asn			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.D1514N	ENST00000423059.4	37	c.4540	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276968	0.59758	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58210	0.35	5.73	5.73	0.89815	.	0.042253	0.85682	D	0.000000	T	0.48077	0.1480	L	0.46157	1.445	0.54753	D	0.999983	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.007	T	0.42816	-0.9429	10	0.12430	T	0.62	.	19.8978	0.96973	0.0:1.0:0.0:0.0	.	1514;1514	Q9UPZ6;C9JL67	THS7A_HUMAN;.	N	1514	ENSP00000406482:D1514N	ENSP00000262042:D1514N	D	-	1	0	THSD7A	11385832	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.082000	0.41605	2.703000	0.92315	0.557000	0.71058	GAC	THSD7A	-	NULL		0.468	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11419307	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11419307	C	T	11419307	3	4	141	1	0	0	0	0	1	0	0	0	15909	884	31	1	449	1	THSD7A	7	11419307	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		11419307	147719356	32	23052										
ZNF277	11179	genome.wustl.edu	37	chr7	111846792	111846792	+	Frame_Shift_Del	DEL	G	G	-													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	atggctgcttccaagacccaGggggctgtcgcccgaatgca					rs375891848		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr7:111846792delG	ENST00000361822.3	+	1	150	c.21delG	c.(19-21)cagfs	p.Q7fs	ZNF277_ENST00000450657.1_Frame_Shift_Del_p.Q7fs|ZNF277_ENST00000421043.1_Frame_Shift_Del_p.Q7fs|DOCK4_ENST00000428084.1_5'Flank|DOCK4_ENST00000476846.1_5'Flank|DOCK4_ENST00000437633.1_5'Flank	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	7					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCAAGACCCAGGGGGCTGTCG	0.652																																																	0													30	33	32					7																	111846792		2203	4300	6503	SO:0001589	frameshift_variant	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.21delG	7.37:g.111846792delG	ENSP00000354501:p.Gln7fs		Q75MZ2|Q75MZ3|Q8WY14	Frame_Shift_Del	DEL	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A9fs	ENST00000361822.3	37	c.21	CCDS5755.2	7																																																																																			ZNF277	-	NULL		0.652	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	G	NM_021994		111846792	1	no_errors	ENST00000361822	ensembl	human	known	70_37	frame_shift_del	DEL	0.920	-	-	111846792	G	-	111846792	7	5	141	1	0	1	0	1	0	0	0	0	17842	991	35	0	23	0	ZNF277	7	111846792	Frame_Shift_Del	DEL	G	TCGA-HG-A2PA-01A-11D-A20U-09	100427485	111846792	47291871	33	23053										
FLNC	2318	genome.wustl.edu	37	chr7	128486419	128486419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	aagagccccttccgagtgggCgtgaccgagggctgtgatcc	15	12	0	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr7:128486419C>T	ENST00000325888.8	+	23	4290	c.4029C>T	c.(4027-4029)ggC>ggT	p.G1343G	FLNC_ENST00000346177.6_Silent_p.G1343G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1343					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCGAGTGGGCGTGACCGAGG	0.637																																																	0													51	62	58					7																	128486419		2121	4221	6342	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4029C>T	7.37:g.128486419C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1343	ENST00000325888.8	37	c.4029	CCDS43644.1	7																																																																																			FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128486419	1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	0.517	T	T	128486419	C	T	128486419	2	4	141	1	0	0	0	0	0	0	0	1	5953	755	27	2		2	FLNC	7	128486419	Silent	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	16639627	128486419	30652244	34	23054										
WRN	7486	genome.wustl.edu	37	chr8	30969312	30969312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gcagccatttcttgtcaaaaCaaggtaaggatttaatggtt	9	6	2	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr8:30969312C>G	ENST00000298139.5	+	19	2519	c.2270C>G	c.(2269-2271)aCa>aGa	p.T757R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	757	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTGTCAAAACAAGGTAAGGA	0.328			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													55	56	56					8																	30969312		2203	4300	6503	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2270C>G	8.37:g.30969312C>G	ENSP00000298139:p.Thr757Arg		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.T757R	ENST00000298139.5	37	c.2270	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	C	4.309	0.056552	0.08291	.	.	ENSG00000165392	ENST00000298139	T	0.04502	3.61	5.15	5.15	0.70609	Helicase, C-terminal (1);	0.339568	0.29253	N	0.012686	T	0.03608	0.0103	N	0.24115	0.695	0.23751	N	0.996948	B;B	0.33022	0.394;0.394	B;B	0.30401	0.115;0.115	T	0.43637	-0.9379	10	0.33141	T	0.24	-5.6709	8.6864	0.34240	0.2729:0.5871:0.14:0.0	.	167;757	Q59F09;Q14191	.;WRN_HUMAN	R	757	ENSP00000298139:T757R	ENSP00000298139:T757R	T	+	2	0	WRN	31088854	0.995000	0.38212	0.729000	0.30791	0.237000	0.25408	2.237000	0.43061	2.394000	0.81467	0.557000	0.71058	ACA	WRN	-	pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	C			30969312	1	no_errors	ENST00000298139	ensembl	human	known	70_37	missense	SNP	0.884	G	G	30969312	C	G	30969312	3	3	141	1	0	0	0	0	1	0	0	0	17433	478	17	4	2340	4	WRN	8	30969312	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		30969312	115394710	35	23055										
FER1L6	654463	genome.wustl.edu	37	chr8	125025691	125025691	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gaagaaagtatagaagaagtGagagaattgatcaagatttc	11	2	1	7			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr8:125025691G>A	ENST00000522917.1	+	15	2048	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	FER1L6_ENST00000399018.1_Silent_p.V614V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	614						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAGAAGAAGTGAGAGAATTGA	0.443																																																	0													101	97	98					8																	125025691		1859	4105	5964	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1842G>A	8.37:g.125025691G>A				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V614	ENST00000522917.1	37	c.1842	CCDS43767.1	8																																																																																			FER1L6	-	NULL		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		125025691	1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.966	A	A	125025691	G	A	125025691	2	1	141	1	0	0	0	0	0	0	0	1	5833	1277	45	1		1	FER1L6	8	125025691	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	94056379	125025691	21338331	36	23056										
GKAP1	80318	genome.wustl.edu	37	chr9	86421236	86421237	+	Missense_Mutation	DNP	TG	TG	CT													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cctcatttgcttcactctgtTgctgttccttcttttttctt							TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr9:86421236_86421237TG>CT	ENST00000376371.2	-	3	596_597	c.196_197CA>AG	c.(196-198)CAa>AGa	p.Q66R	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q66R	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	66					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCACTCTGTTGCTGttccttc	0.371																																																	0																																										SO:0001583	missense	80318			BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"cGMP-dependent protein kinase anchoring protein 42kDa"	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.196_197delinsCT	9.37:g.86421236_86421237delinsCT	ENSP00000365550:p.Gln66Arg		Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	NULL	p.Q66R|p.Q66K	ENST00000376371.2	37	c.197|c.196	CCDS35049.1	9																																																																																			GKAP1	-	NULL		0.371	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	HGNC	protein_coding	OTTHUMT00000052839.2	T|G	NM_025211		86421236|86421237	-1	no_errors	ENST00000376371	ensembl	human	known	70_37	missense	SNP	1.000	C|T	CT	86421237	TG	CT	86421236	3	2	141	1	0	0	0	0	1	0	0	0	6442	1812	63	5	947	5	GKAP1	9	86421236	Missense_Mutation	DNP	TG	TCGA-HG-A2PA-01A-11D-A20U-09		86421236	54792195	37	23057										
ABL1	25	genome.wustl.edu	37	chr9	133759698	133759698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ggtccccaatggagccctccGggagtccgggggctcaggct	16	14	1	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr9:133759698G>A	ENST00000318560.5	+	11	2402	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	674					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGAGCCCTCCGGGAGTCCGGG	0.677			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													14	18	16					9																	133759698		2175	4235	6410	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2021G>A	9.37:g.133759698G>A	ENSP00000323315:p.Arg674Gln		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R693Q	ENST00000318560.5	37	c.2078	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	7.857	0.725337	0.15439	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.14516	2.5;2.5	3.43	3.43	0.39272	.	0.000000	0.43110	D	0.000606	T	0.08223	0.0205	L	0.44542	1.39	0.33172	D	0.548345	P;P	0.44090	0.826;0.826	B;B	0.36808	0.233;0.233	T	0.04855	-1.0922	10	0.08381	T	0.77	.	6.8106	0.23802	0.1247:0.0:0.8753:0.0	.	674;711	P00519;Q59FK4	ABL1_HUMAN;.	Q	489;693;674	ENSP00000361423:R693Q;ENSP00000323315:R674Q	ENSP00000323315:R674Q	R	+	2	0	ABL1	132749519	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.073000	0.57570	2.252000	0.74401	0.561000	0.74099	CGG	ABL1	-	NULL		0.677	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	G	NM_007313		133759698	1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133759698	G	A	133759698	3	1	141	1	0	0	0	0	1	0	0	0	92	1116	39	2	2203	2	ABL1	9	133759698	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	47338462	133759698	7453733	38	23058										
AKR1E2	83592	genome.wustl.edu	37	chr10	4877913	4877913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ctgcagtgaactttccttctGcctctcacatcctcgagtgc	7	15	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:4877913G>T	ENST00000298375.7	+	4	442	c.371G>T	c.(370-372)tGc>tTc	p.C124F	AKR1E2_ENST00000532248.1_Missense_Mutation_p.C124F|AKR1E2_ENST00000334019.4_Missense_Mutation_p.C124F|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.C124F	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	124						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTTTCCTTCTGCCTCTCACAT	0.493																																					NSCLC(43;343 1097 20371 28813 45509)												0													111	86	94					10																	4877913		2203	4300	6503	SO:0001583	missense	83592			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.371G>T	10.37:g.4877913G>T	ENSP00000298375:p.Cys124Phe		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.C124F	ENST00000298375.7	37	c.371	CCDS31134.1	10	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020468	0.35606	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.30182	2.15;1.54;1.83;1.93;2.42	3.85	-1.85	0.07784	NADP-dependent oxidoreductase domain (3);	1.750800	0.03350	N	0.196015	T	0.14614	0.0353	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.22983	0.003;0.063;0.063;0.078;0.063	B;B;B;B;B	0.22880	0.026;0.025;0.025;0.042;0.025	T	0.22487	-1.0215	10	0.38643	T	0.18	.	7.0076	0.24846	0.0:0.2854:0.2733:0.4412	.	85;124;124;124;124	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	F	20;128;124;124;124;124	ENSP00000435436:C128F;ENSP00000298375:C124F;ENSP00000432947:C124F;ENSP00000335034:C124F;ENSP00000335603:C124F	ENSP00000298375:C124F	C	+	2	0	AKR1E2	4867913	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.220000	0.09215	-0.339000	0.08401	0.561000	0.74099	TGC	AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.493	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	G	NM_031436		4877913	1	no_errors	ENST00000298375	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4877913	G	T	4877913	3	4	141	1	0	0	0	0	1	0	0	0	474	1319	46	4	385	4	AKR1E2	10	4877913	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		4877913	130656834	39	23059										
FBXO18	84893	genome.wustl.edu	37	chr10	5957376	5957376	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gcttccccaggcactgggaaGacctcaacgctggtcaagta	11	13	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:5957376G>A	ENST00000362091.4	+	9	1522	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	FBXO18_ENST00000379999.5_Silent_p.K520K|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	469					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCACTGGGAAGACCTCAACGC	0.547																																																	0													84	62	70					10																	5957376		2203	4300	6503	SO:0001819	synonymous_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1407G>A	10.37:g.5957376G>A			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.K520	ENST00000362091.4	37	c.1560	CCDS7072.1	10																																																																																			FBXO18	-	NULL		0.547	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	G	NM_032807		5957376	1	no_errors	ENST00000379999	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5957376	G	A	5957376	2	1	141	1	0	0	0	0	0	0	0	1	5749	933	33	1		1	FBXO18	10	5957376	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	1079463	5957376	129577371	40	23060										
PLXDC2	84898	genome.wustl.edu	37	chr10	20506461	20506461	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cagggtcctaactaccaccaGaagagcagtgacttctcagt	9	12	1	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:20506461G>T	ENST00000377252.4	+	11	2070	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.R361I	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	410	Thr-rich.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTACCACCAGAAGAGCAGTG	0.438																																																	0													107	96	99					10																	20506461		2203	4300	6503	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1229G>T	10.37:g.20506461G>T	ENSP00000366460:p.Arg410Ile		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.R410I	ENST00000377252.4	37	c.1229	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715760	0.48622	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.36340	1.26;1.26	5.37	3.49	0.39957	.	0.314525	0.38663	N	0.001604	T	0.33760	0.0874	L	0.35414	1.06	0.51482	D	0.999921	D;P	0.53151	0.958;0.93	P;P	0.51135	0.66;0.459	T	0.01635	-1.1307	10	0.35671	T	0.21	.	9.7992	0.40753	0.1469:0.0:0.8531:0.0	.	361;410	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	I	410;361;273;396	ENSP00000366460:R410I;ENSP00000366450:R361I	ENSP00000366446:R273I	R	+	2	0	PLXDC2	20546467	0.257000	0.24022	1.000000	0.80357	0.390000	0.30446	0.781000	0.26774	2.531000	0.85337	0.563000	0.77884	AGA	PLXDC2	-	NULL		0.438	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	G	NM_032812		20506461	1	no_errors	ENST00000377252	ensembl	human	known	70_37	missense	SNP	0.976	T	T	20506461	G	T	20506461	3	4	141	1	0	0	0	0	1	0	0	0	12142	942	33	3	1271	3	PLXDC2	10	20506461	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	14549085	20506461	115028286	41	23061										
FRMPD2	143162	genome.wustl.edu	37	chr10	49392882	49392882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tagaagatataaaaatgccaGggtcagcttggcctgaatac	10	7	1	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:49392882G>A	ENST00000374201.3	-	19	2704	c.2402C>T	c.(2401-2403)cCt>cTt	p.P801L	FRMPD2_ENST00000407470.4_Missense_Mutation_p.P769L|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P776L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	801	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAAAATGCCAGGGTCAGCTTG	0.368																																																	0													82	80	81					10																	49392882		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2402C>T	10.37:g.49392882G>A	ENSP00000363317:p.Pro801Leu		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.P801L	ENST00000374201.3	37	c.2402	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	5.697	0.313096	0.10789	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.27890	1.64;1.64;1.64	5.24	4.1	0.47936	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.08935	0.0221	N	0.01081	-1.03	0.39852	D	0.97325	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.16722	0.016;0.005;0.016	T	0.28073	-1.0055	9	0.18276	T	0.48	.	5.1881	0.15195	0.2035:0.0:0.7965:0.0	.	776;801;769	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	801;776;769	ENSP00000363317:P801L;ENSP00000307079:P776L;ENSP00000384339:P769L	ENSP00000307079:P776L	P	-	2	0	FRMPD2	49062888	1.000000	0.71417	0.954000	0.39281	0.909000	0.53808	5.795000	0.69074	2.615000	0.88500	0.655000	0.94253	CCT	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.368	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	G	NM_152428		49392882	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.993	A	A	49392882	G	A	49392882	3	1	141	1	0	0	0	0	1	0	0	0	6076	1000	35	4	1571	4	FRMPD2	10	49392882	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	28886421	49392882	86141865	42	23062										
TMEM80	283232	genome.wustl.edu	37	chr11	695769	695769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gaaaatggccgaaggagcgcGagcgcgcgggccgagaggct	19	10	0	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:695769G>C	ENST00000608174.1	+	1	154	c.17G>C	c.(16-18)cGa>cCa	p.R6P	TMEM80_ENST00000397512.3_Missense_Mutation_p.R6P|TMEM80_ENST00000397510.3_Missense_Mutation_p.R54P|DEAF1_ENST00000338675.6_5'Flank|DEAF1_ENST00000382409.3_5'Flank	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGAGCGCGAGCGCGCGGG	0.766																																																	0													1	1	1					11																	695769		665	1854	2519	SO:0001583	missense	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.17G>C	11.37:g.695769G>C	ENSP00000476563:p.Arg6Pro		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.R6P	ENST00000608174.1	37	c.17	CCDS41587.1	11	.	.	.	.	.	.	.	.	.	.	G	6.526	0.465282	0.12402	.	.	ENSG00000177042	ENST00000397510;ENST00000397512	D;D	0.91945	-2.94;-1.8	1.31	0.276	0.15663	.	.	.	.	.	T	0.79793	0.4507	N	0.08118	0	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.66204	-0.5982	9	0.31617	T	0.26	.	5.1349	0.14930	0.0:0.3781:0.6219:0.0	.	6;6	Q96HE8-2;Q96HE8	.;TMM80_HUMAN	P	6	ENSP00000380646:R6P;ENSP00000380648:R6P	ENSP00000380646:R6P	R	+	2	0	TMEM80	685769	0.000000	0.05858	0.008000	0.14137	0.216000	0.24613	-0.063000	0.11655	0.086000	0.17137	0.462000	0.41574	CGA	TMEM80	-	NULL		0.766	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	G	NM_174940		695769	1	no_errors	ENST00000397510	ensembl	human	known	70_37	missense	SNP	0.009	C	C	695769	G	C	695769	3	2	141	1	0	0	0	0	1	0	0	0	16234	1058	37	1	19	1	TMEM80	11	695769	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		695769	134310747	43	23063										
OR5D14	219436	genome.wustl.edu	37	chr11	55563530	55563530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tactcctttgttatgctctcCggttaaacttctctggacct	6	12	2	0	rs200387718		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:55563530C>T	ENST00000335605.1	+	1	499	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTATGCTCTCCGGTTAAACTT	0.493																																																	0													185	184	184					11																	55563530		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.499C>T	11.37:g.55563530C>T	ENSP00000334456:p.Arg167Trp		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R167W	ENST00000335605.1	37	c.499	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	11.07	1.530943	0.27387	.	.	ENSG00000186113	ENST00000335605	T	0.00188	8.59	4.95	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.876997	0.09429	N	0.803313	T	0.00384	0.0012	M	0.69358	2.11	0.09310	N	1	D	0.56746	0.977	P	0.55303	0.773	T	0.54827	-0.8235	10	0.87932	D	0	0.5794	12.3418	0.55099	0.5681:0.4319:0.0:0.0	.	167	Q8NGL3	OR5DE_HUMAN	W	167	ENSP00000334456:R167W	ENSP00000334456:R167W	R	+	1	2	OR5D14	55320106	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.832000	0.04400	0.442000	0.26555	0.551000	0.68910	CGG	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	C	NM_001004735		55563530	1	no_errors	ENST00000335605	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55563530	C	T	55563530	3	4	141	1	0	0	0	0	1	0	0	0	11179	643	23	2	501	2	OR5D14	11	55563530	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	54867761	55563530	79442986	44	23064										
AMOTL1	154810	genome.wustl.edu	37	chr11	94587123	94587123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	agagaagcaagcatatgttgAgaaagttgagaagctgcagc	13	5	0	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:94587123A>G	ENST00000433060.2	+	8	1961	c.1820A>G	c.(1819-1821)gAg>gGg	p.E607G	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.E557G	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	607					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCATATGTTGAGAAAGTTGAG	0.517																																																	0													42	45	44					11																	94587123		2015	4182	6197	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1820A>G	11.37:g.94587123A>G	ENSP00000387739:p.Glu607Gly		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E607G	ENST00000433060.2	37	c.1820	CCDS44712.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.19|18.19	3.568162|3.568162	0.65651|0.65651	.|.	.|.	ENSG00000166025|ENSG00000166025	ENST00000317829;ENST00000433060|ENST00000542840	T;T|.	0.28666|.	1.62;1.6|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Angiomotin, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.74329|.	0.3702|.	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.76071|.	0.987;0.98|.	T|.	0.75695|.	-0.3228|.	10|.	0.87932|.	D|.	0|.	-25.8426|-25.8426	14.8419|14.8419	0.70233|0.70233	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	557;607|.	Q8IY63-2;Q8IY63|.	.;AMOL1_HUMAN|.	G|W	557;607|612	ENSP00000320968:E557G;ENSP00000387739:E607G|.	ENSP00000320968:E557G|.	E|X	+|+	2|3	0|0	AMOTL1|AMOTL1	94226771|94226771	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.220000|0.220000	0.24768|0.24768	7.137000|7.137000	0.77295|0.77295	1.975000|1.975000	0.57531|0.57531	0.459000|0.459000	0.35465|0.35465	GAG|TGA	AMOTL1	-	pfam_Angiomotin_C,prints_Angiomotin		0.517	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	A	NM_130847		94587123	1	no_errors	ENST00000433060	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94587123	A	G	94587123	3	3	141	1	0	0	0	0	1	0	0	0	583	304	11	5	1850	5	AMOTL1	11	94587123	Missense_Mutation	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	39023593	94587123	40419393	45	23065										
MLL2	8085	genome.wustl.edu	37	chr12	49439723	49439723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ctggctctttcaccttcatgGgcaccagctctggaggtgca	11	13	4	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:49439723G>A	ENST00000301067.7	-	18	4720	c.4721C>T	c.(4720-4722)cCc>cTc	p.P1574L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1574					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACCTTCATGGGCACCAGCTC	0.547																																																	0													71	81	78					12																	49439723		2024	4187	6211	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4721C>T	12.37:g.49439723G>A	ENSP00000301067:p.Pro1574Leu		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P1574L	ENST00000301067.7	37	c.4721	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629447	0.46944	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	5.57	5.57	0.84162	Zinc finger, FYVE/PHD-type (1);	0.000000	0.38058	N	0.001838	T	0.78966	0.4367	N	0.20986	0.625	0.43317	D	0.995335	D	0.57257	0.979	P	0.52554	0.702	T	0.82086	-0.0631	10	0.87932	D	0	.	16.4738	0.84125	0.0:0.0:1.0:0.0	.	1574	O14686	MLL2_HUMAN	L	1574	ENSP00000301067:P1574L	ENSP00000301067:P1574L	P	-	2	0	MLL2	47725990	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.418000	0.66429	2.630000	0.89119	0.655000	0.94253	CCC	MLL2	-	superfamily_Znf_FYVE_PHD		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49439723	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.999	A	A	49439723	G	A	49439723	3	1	141	1	0	0	0	0	1	0	0	0	9644	1232	43	4	12040	4	MLL2	12	49439723	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		49439723	84412172	46	23066										
NAB2	4665	genome.wustl.edu	37	chr12	57488487	57488487	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gcagcgtgaaagtggaggctGaggccagccggcagtgaggg	20	8	0	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:57488487G>A	ENST00000300131.3	+	7	1939	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.E457K	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	521					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTGGAGGCTGAGGCCAGCCG	0.637																																																	0													52	44	47					12																	57488487		2168	4226	6394	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1561G>A	12.37:g.57488487G>A	ENSP00000300131:p.Glu521Lys		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.E521K	ENST00000300131.3	37	c.1561	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173100	0.78452	.	.	ENSG00000166886	ENST00000300131;ENST00000342556	.	.	.	4.08	4.08	0.47627	.	0.000000	0.37393	N	0.002118	T	0.45115	0.1326	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.50270	0.636	T	0.52449	-0.8574	9	0.87932	D	0	-16.2696	12.1392	0.53989	0.0:0.0:1.0:0.0	.	521	Q15742	NAB2_HUMAN	K	521;457	.	ENSP00000300131:E521K	E	+	1	0	NAB2	55774754	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.361000	0.66092	2.003000	0.58678	0.491000	0.48974	GAG	NAB2	-	NULL		0.637	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57488487	1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57488487	G	A	57488487	3	1	141	1	0	0	0	0	1	0	0	0	10155	1291	45	1	1587	1	NAB2	12	57488487	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	8048764	57488487	76363408	47	23067										
NAV3	89795	genome.wustl.edu	37	chr12	78515749	78515749	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tgccaaggcaggtggcaaatCtgcctctgcacctaatactg	10	12	2	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:78515749C>G	ENST00000397909.2	+	16	3952	c.3779C>G	c.(3778-3780)tCt>tGt	p.S1260C	NAV3_ENST00000536525.2_Missense_Mutation_p.S1260C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1260C|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1260	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGTGGCAAATCTGCCTCTGCA	0.458										HNSCC(70;0.22)																																							0													50	48	49					12																	78515749		1974	4173	6147	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3779C>G	12.37:g.78515749C>G	ENSP00000381007:p.Ser1260Cys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1260C	ENST00000397909.2	37	c.3779		12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298822	0.81025	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.26957	1.7;1.7;1.7	6.06	6.06	0.98353	.	0.405716	0.17856	U	0.159684	T	0.27629	0.0679	N	0.22421	0.69	0.80722	D	1	P;P;P	0.41569	0.626;0.694;0.755	B;B;B	0.43331	0.289;0.302;0.416	T	0.03641	-1.1017	10	0.72032	D	0.01	-6.1049	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1260;1260;1260	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	C	1260	ENSP00000446132:S1260C;ENSP00000381007:S1260C;ENSP00000228327:S1260C	ENSP00000228327:S1260C	S	+	2	0	NAV3	77039880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.705000	0.68355	2.871000	0.98454	0.655000	0.94253	TCT	NAV3	-	NULL		0.458	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78515749	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78515749	C	G	78515749	3	3	141	1	0	0	0	0	1	0	0	0	10208	913	32	1	3841	1	NAV3	12	78515749	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	21027262	78515749	55336146	48	23068										
ANO4	121601	genome.wustl.edu	37	chr12	101493406	101493406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	agtacgacaagaacatggacCtgaaaggaaaataagtttcc	9	7	0	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:101493406C>A	ENST00000392977.3	+	22	2267	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H	ANO4_ENST00000299222.9_Missense_Mutation_p.P206H|ANO4_ENST00000392979.3_Missense_Mutation_p.P651H|ANO4_ENST00000550015.1_Missense_Mutation_p.P206H			Q32M45	ANO4_HUMAN	anoctamin 4	686					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363										HNSCC(74;0.22)																																							0													107	108	108					12																	101493406		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2057C>A	12.37:g.101493406C>A	ENSP00000376703:p.Pro686His		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.P686H	ENST00000392977.3	37	c.2057		12	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262940	0.39995	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.59	5.59	0.84812	.	0.479691	0.22090	N	0.064765	T	0.49898	0.1584	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29571	0.003;0.103;0.249	B;B;B	0.32022	0.002;0.139;0.136	T	0.49799	-0.8901	10	0.48119	T	0.1	.	12.8711	0.57965	0.0:0.9256:0.0:0.0744	.	206;686;651	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	651;206;686;206	ENSP00000376705:P651H;ENSP00000299222:P206H;ENSP00000376703:P686H;ENSP00000450192:P206H	ENSP00000299222:P206H	P	+	2	0	ANO4	100017537	0.145000	0.22656	0.624000	0.29186	0.828000	0.46876	3.062000	0.49971	2.630000	0.89119	0.650000	0.86243	CCT	ANO4	-	pfam_Anoctamin		0.363	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	C	NM_178826		101493406	1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	0.084	A	A	101493406	C	A	101493406	3	1	141	1	0	0	0	0	1	0	0	0	699	681	24	4	2030	4	ANO4	12	101493406	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	22977657	101493406	32358489	49	23069										
PRMT5	10419	genome.wustl.edu	37	chr14	23398532	23398532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	aggtccctcccgctggacacGcggctcccaccagcaccccc	9	22	0	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr14:23398532G>A	ENST00000324366.8	-	1	262	c.39C>T	c.(37-39)cgC>cgT	p.R13R	PRMT5_ENST00000397441.2_5'UTR|PRMT5_ENST00000397440.4_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Silent_p.R13R|PRMT5_ENST00000216350.8_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	13	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CGCTGGACACGCGGCTCCCAC	0.622																																																	0													41	34	37					14																	23398532		2203	4300	6503	SO:0001819	synonymous_variant	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.39C>T	14.37:g.23398532G>A			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.R13	ENST00000324366.8	37	c.39	CCDS9579.1	14																																																																																			PRMT5	-	pirsf_Arg_MeTrfase_PRMT5		0.622	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	G			23398532	-1	no_errors	ENST00000324366	ensembl	human	known	70_37	silent	SNP	1.000	A	A	23398532	G	A	23398532	2	1	141	1	0	0	0	0	0	0	0	1	12566	1074	38	2		2	PRMT5	14	23398532	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		23398532	83951008	50	23070										
DMXL2	23312	genome.wustl.edu	37	chr15	51748511	51748511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gtcataaatacttacagtatTgatggactgggtgtgaagtc	11	5	1	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:51748511T>C	ENST00000251076.5	-	37	8614	c.8327A>G	c.(8326-8328)cAa>cGa	p.Q2776R	RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q2140R|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2777R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2776						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTTACAGTATTGATGGACTGG	0.269																																																	0													66	72	70					15																	51748511		2196	4292	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8327A>G	15.37:g.51748511T>C	ENSP00000251076:p.Gln2776Arg		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2777R	ENST00000251076.5	37	c.8330	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926758	0.92319	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01246	5.11;5.11;5.11	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	N	0.25647	0.755	0.80722	D	1	D;P;D;P	0.63880	0.993;0.936;0.99;0.683	P;P;D;B	0.69824	0.852;0.885;0.966;0.305	T	0.56721	-0.7932	10	0.72032	D	0.01	.	15.3376	0.74269	0.0:0.0:0.0:1.0	.	2777;2140;2776;2777	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2776;2777;2140;342	ENSP00000251076:Q2776R;ENSP00000441858:Q2777R;ENSP00000400855:Q2140R	ENSP00000251076:Q2776R	Q	-	2	0	DMXL2	49535803	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	5.694000	0.68272	2.194000	0.70268	0.533000	0.62120	CAA	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.269	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	T	NM_015263		51748511	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51748511	T	C	51748511	3	2	141	1	0	0	0	0	1	0	0	0	4605	1812	63	5	811	5	DMXL2	15	51748511	Missense_Mutation	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09		51748511	50782881	51	23071										
DENND4A	10260	genome.wustl.edu	37	chr15	65994218	65994218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cacagagttgcataagaatgCggtagcatacctgaaataca	9	8	0	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:65994218C>T	ENST00000431932.2	-	18	2649	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	DENND4A_ENST00000443035.3_Missense_Mutation_p.R814H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	814					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CATAAGAATGCGGTAGCATAC	0.363																																																	0													129	126	127					15																	65994218		1897	4124	6021	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2441G>A	15.37:g.65994218C>T	ENSP00000396830:p.Arg814His		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.R814H	ENST00000431932.2	37	c.2441	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.163110	0.94727	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.10192	2.9;2.92	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53634	-0.8411	10	0.87932	D	0	.	19.0539	0.93055	0.0:1.0:0.0:0.0	.	814;814	E7EPL3;Q7Z401	.;MYCPP_HUMAN	H	814	ENSP00000391167:R814H;ENSP00000396830:R814H	ENSP00000396830:R814H	R	-	2	0	DENND4A	63781272	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.707000	0.84623	2.506000	0.84524	0.591000	0.81541	CGC	DENND4A	-	tigrfam_Pentatricopeptide_repeat		0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		65994218	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65994218	C	T	65994218	3	4	141	1	0	0	0	0	1	0	0	0	4443	768	27	2	3343	2	DENND4A	15	65994218	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	14245707	65994218	36537174	52	23072										
IGF1R	3480	genome.wustl.edu	37	chr15	99465401	99465401	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gaaaggaagcggagagatgtCatgcaagtggccaacaccac	13	9	1	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:99465401C>T	ENST00000268035.6	+	11	2837	c.2226C>T	c.(2224-2226)gtC>gtT	p.V742V	IGF1R_ENST00000558762.1_Silent_p.V742V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	742	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGAGAGATGTCATGCAAGTGG	0.498																																																	0													86	82	84					15																	99465401		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2226C>T	15.37:g.99465401C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.V742	ENST00000268035.6	37	c.2226	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99465401	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	0.119	T	T	99465401	C	T	99465401	2	4	141	1	0	0	0	0	0	0	0	1	7591	813	29	1		1	IGF1R	15	99465401	Silent	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	33471183	99465401	3065991	53	23073										
HN1L	90861	genome.wustl.edu	37	chr16	1741844	1741844	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ttctgtgatcgtttctgcagGgggtaaaggaagtggtatct	14	5	3	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:1741844G>A	ENST00000248098.3	+	3	251	c.194G>A	c.(193-195)gGg>gAg	p.G65E	HN1L_ENST00000562684.1_Splice_Site_p.G93E|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000382710.4_Splice_Site_p.G53E|HN1L_ENST00000382711.5_Splice_Site_p.G49E|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GTTTCTGCAGGGGGTAAAGGA	0.582																																																	0													82	75	77					16																	1741844		2199	4300	6499	SO:0001630	splice_region_variant	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.194-1G>A	16.37:g.1741844G>A			B1AJY2|Q6EIC7	Missense_Mutation	SNP	NULL	p.G65E	ENST00000248098.3	37	c.194	CCDS10441.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021208	0.75275	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.995;0.976	T	0.72293	-0.4336	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	53;93;65	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	E	65;93;65;53	ENSP00000248098:G65E;ENSP00000372157:G53E	.	G	+	2	0	HN1L	1681845	1.000000	0.71417	0.988000	0.46212	0.448000	0.32197	7.373000	0.79623	2.941000	0.99782	0.655000	0.94253	GGG	HN1L	-	NULL		0.582	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2	G	NM_144570	Missense_Mutation	1741844	1	no_errors	ENST00000248098	ensembl	human	known	70_37	missense	SNP	0.999	A	A	1741844	G	A	1741844	5	1	141	1	0	0	0	0	0	0	1	0	7270	1246	43	4	204	4	HN1L	16	1741844	Splice_Site	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		1741844	88612909	54	23074										
OR2C1	4993	genome.wustl.edu	37	chr16	3406533	3406533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cacaagtctcaaccaggctgTgctcaatggtgtctgcacct	9	13	3	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:3406533T>C	ENST00000304936.2	+	1	645	c.593T>C	c.(592-594)gTg>gCg	p.V198A		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	198					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AACCAGGCTGTGCTCAATGGT	0.562																																																	0													129	102	111					16																	3406533		2197	4300	6497	SO:0001583	missense	4993			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.593T>C	16.37:g.3406533T>C	ENSP00000307726:p.Val198Ala		A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V198A	ENST00000304936.2	37	c.593	CCDS10502.1	16	.	.	.	.	.	.	.	.	.	.	t	3.303	-0.142444	0.06669	.	.	ENSG00000168158	ENST00000304936	T	0.38077	1.16	4.81	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.450432	0.16372	N	0.217284	T	0.28797	0.0714	L	0.28458	0.855	0.26381	N	0.976739	B	0.25809	0.135	B	0.35688	0.208	T	0.29058	-1.0024	10	0.23302	T	0.38	.	8.9159	0.35581	0.0:0.0:0.3704:0.6296	.	198	O95371	OR2C1_HUMAN	A	198	ENSP00000307726:V198A	ENSP00000307726:V198A	V	+	2	0	OR2C1	3346534	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	0.351000	0.20096	0.823000	0.34589	0.416000	0.27883	GTG	OR2C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C1	HGNC	protein_coding	OTTHUMT00000206993.3	T			3406533	1	no_errors	ENST00000304936	ensembl	human	known	70_37	missense	SNP	0.954	C	C	3406533	T	C	3406533	3	2	141	1	0	0	0	0	1	0	0	0	11016	1696	59	5	595	5	OR2C1	16	3406533	Missense_Mutation	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	1664689	3406533	86948220	55	23075										
GRIN2A	2903	genome.wustl.edu	37	chr16	9857475	9857475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tgtccttgaggcttatgctcCgggagggcctgctaaggtct	14	10	1	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:9857475C>T	ENST00000396573.2	-	14	4235	c.3926G>A	c.(3925-3927)cGg>cAg	p.R1309Q	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1309Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1309Q|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1309					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTATGCTCCGGGAGGGCCT	0.498																																																	0													113	108	110					16																	9857475		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3926G>A	16.37:g.9857475C>T	ENSP00000379818:p.Arg1309Gln		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R1309Q	ENST00000396573.2	37	c.3926	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711380	0.89112	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.46451	0.87;0.87;0.87	5.77	5.77	0.91146	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68375	-0.5425	9	.	.	.	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	1309	Q12879	NMDE1_HUMAN	Q	1309	ENSP00000379818:R1309Q;ENSP00000332549:R1309Q;ENSP00000379820:R1309Q	.	R	-	2	0	GRIN2A	9764976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.741000	0.93983	0.650000	0.86243	CGG	GRIN2A	-	pfam_NMDAR2_C		0.498	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9857475	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9857475	C	T	9857475	3	4	141	1	0	0	0	0	1	0	0	0	6799	652	23	2	472	2	GRIN2A	16	9857475	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	6450942	9857475	80497278	56	23076										
CDK10	8558	genome.wustl.edu	37	chr16	89757893	89757893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ggagatcacgctgctgctccGcctgcgtcatccgaacatcg	11	15	2	1	rs373968493		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:89757893G>A	ENST00000353379.7	+	4	318	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CDK10_ENST00000505473.1_Missense_Mutation_p.R21H|CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Missense_Mutation_p.R45H	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGCTGCTCCGCCTGCGTCAT	0.652																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4396		0,0,2198	64	60	62		62,62,62,275	4.8	0.7	16		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	29,29,29,29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/284,21/290,21/273,92/361	89757893	1,12995	2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.275G>A	16.37:g.89757893G>A	ENSP00000338673:p.Arg92His		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	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.R92H	ENST00000353379.7	37	c.275	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324621	0.60634	0.0	1.16E-4	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.66638	-0.22;-0.22;-0.22	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.092747	0.64402	D	0.000001	T	0.66025	0.2748	N	0.20685	0.6	0.51767	D	0.999938	D;P;D;P;P;D;D	0.69078	0.991;0.951;0.972;0.853;0.941;0.997;0.985	P;P;P;B;P;D;P	0.65010	0.871;0.671;0.82;0.417;0.472;0.931;0.806	T	0.69359	-0.5166	10	0.72032	D	0.01	-26.4403	9.4111	0.38491	0.1359:0.0:0.8641:0.0	.	86;21;92;21;21;50;86	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2;B3KQJ3	.;.;CDK10_HUMAN;.;.;.;.	H	45;63;21;92	ENSP00000329957:R45H;ENSP00000424415:R21H;ENSP00000338673:R92H	ENSP00000329957:R45H	R	+	2	0	CDK10	88285394	1.000000	0.71417	0.696000	0.30242	0.023000	0.10783	4.260000	0.58835	2.245000	0.73994	0.491000	0.48974	CGC	CDK10	-	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		0.652	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89757893	1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89757893	G	A	89757893	3	1	141	1	0	0	0	0	1	0	0	0	3130	1087	38	2	289	2	CDK10	16	89757893	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	79900418	89757893	596860	57	23077										
SCARF1	8578	genome.wustl.edu	37	chr17	1540334	1540334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ctgcagcttcatcctggacaCggtagctccatctctcgctg	9	15	2	0	rs369633804		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:1540334C>T	ENST00000263071.4	-	9	1436	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	SCARF1_ENST00000571272.1_Missense_Mutation_p.V463M|SCARF1_ENST00000348987.3_Missense_Mutation_p.V377M	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	463					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCCTGGACACGGTAGCTCCA	0.632																																																	0									MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	79	65	70		1387,1387,1129	1	0.1	17		70	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	463/831,463/570,377/745	1540334	2,13004	2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1387G>A	17.37:g.1540334C>T	ENSP00000263071:p.Val463Met		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.V463M	ENST00000263071.4	37	c.1387	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	C	5.669	0.308023	0.10733	0.0	2.33E-4	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T	0.35421	1.31;1.31	5.48	1.02	0.19986	.	0.820776	0.10251	N	0.697193	T	0.15219	0.0367	N	0.21142	0.635	0.09310	N	1	B;P;P	0.38280	0.414;0.552;0.625	B;B;B	0.24155	0.051;0.037;0.034	T	0.13926	-1.0491	10	0.27082	T	0.32	-0.0265	1.2129	0.01908	0.289:0.3133:0.2377:0.1601	.	377;463;463	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	M	463;377;463	ENSP00000263071:V463M;ENSP00000323964:V377M	ENSP00000263071:V463M	V	-	1	0	SCARF1	1487084	0.000000	0.05858	0.096000	0.21009	0.247000	0.25773	-0.499000	0.06413	-0.043000	0.13513	0.556000	0.70494	GTG	SCARF1	-	NULL		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	C	NM_003693		1540334	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	0.052	T	T	1540334	C	T	1540334	3	4	141	1	0	0	0	0	1	0	0	0	13913	536	19	2	1117	2	SCARF1	17	1540334	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		1540334	79654876	58	23078										
ALOXE3	59344	genome.wustl.edu	37	chr17	8021319	8021319	+	5'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	acactgccatgatgggaaggAggaagggatgccccggcaac	15	10	0	1	rs202235772		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:8021319A>G	ENST00000448843.2	-	0	330				ALOXE3_ENST00000380149.1_Missense_Mutation_p.L153P|ALOXE3_ENST00000318227.3_Missense_Mutation_p.L129P	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3						arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GATGGGAAGGAGGAAGGGATG	0.662																																																	0													34	29	31					17																	8021319		2203	4300	6503	SO:0001623	5_prime_UTR_variant	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.-11T>C	17.37:g.8021319A>G			B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.L129P	ENST00000448843.2	37	c.386	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526848	0.27299	.	.	ENSG00000179148	ENST00000380149;ENST00000318227	T;T	0.73681	-0.77;-0.76	4.73	0.897	0.19258	.	0.992067	0.08179	N	0.985747	T	0.51075	0.1653	N	0.08118	0	0.09310	N	0.999998	B	0.11235	0.004	B	0.08055	0.003	T	0.42155	-0.9468	10	0.66056	D	0.02	-1.9163	2.9191	0.05762	0.451:0.244:0.305:0.0	.	129	B7Z3W0	.	P	153;129	ENSP00000369494:L153P;ENSP00000314879:L129P	ENSP00000314879:L129P	L	-	2	0	ALOXE3	7962044	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.101000	0.15251	0.164000	0.19529	0.459000	0.35465	CTC	ALOXE3	-	superfamily_Lipase_LipOase		0.662	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	A			8021319	-1	no_errors	ENST00000318227	ensembl	human	known	70_37	missense	SNP	0.000	G	G	8021319	A	G	8021319	1	3	141	0	1	0	0	0	0	0	0	0	542	304	11	5		5	ALOXE3	17	8021319	5'UTR	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	6480985	8021319	73173891	59	23079										
MYH2	4620	genome.wustl.edu	37	chr17	10427875	10427875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tgtctgttccagagtggcccGcagctcctcgatctcagcct	10	15	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:10427875G>A	ENST00000245503.5	-	35	5467	c.5083C>T	c.(5083-5085)Cgg>Tgg	p.R1695W	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1695W|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1695					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGAGTGGCCCGCAGCTCCTCG	0.597																																																	0													89	85	86					17																	10427875		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5083C>T	17.37:g.10427875G>A	ENSP00000245503:p.Arg1695Trp		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1695W	ENST00000245503.5	37	c.5083	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196250	0.38806	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.31	-0.506	0.11989	Myosin tail (1);	0.000000	0.36002	U	0.002852	D	0.85483	0.5707	H	0.95712	3.71	0.46222	D	0.998937	B	0.11235	0.004	B	0.10450	0.005	T	0.82845	-0.0256	10	0.87932	D	0	.	16.5444	0.84410	0.0:0.0:0.3339:0.6661	.	1695	Q9UKX2	MYH2_HUMAN	W	1695	ENSP00000245503:R1695W;ENSP00000380367:R1695W	ENSP00000245503:R1695W	R	-	1	2	MYH2	10368600	0.997000	0.39634	0.995000	0.50966	0.990000	0.78478	0.775000	0.26689	-0.167000	0.10871	0.491000	0.48974	CGG	MYH2	-	pfam_Myosin_tail		0.597	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10427875	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	0.998	A	A	10427875	G	A	10427875	3	1	141	1	0	0	0	0	1	0	0	0	10058	1086	38	2	766	2	MYH2	17	10427875	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	2406556	10427875	70767335	60	23080										
RUNDC1	146923	genome.wustl.edu	37	chr17	41142345	41142345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tgattccagatgaagtgggaAgccccttgcagacaggtggt	14	8	0	4			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:41142345A>G	ENST00000361677.1	+	4	880	c.868A>G	c.(868-870)Agc>Ggc	p.S290G		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	290										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGAAGTGGGAAGCCCCTTGCA	0.463																																																	0													87	91	90					17																	41142345		2203	4300	6503	SO:0001583	missense	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.868A>G	17.37:g.41142345A>G	ENSP00000354622:p.Ser290Gly		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.S290G	ENST00000361677.1	37	c.868	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214865	0.39102	.	.	ENSG00000198863	ENST00000361677	T	0.18810	2.19	5.21	5.21	0.72293	.	0.102279	0.64402	D	0.000003	T	0.18173	0.0436	L	0.38531	1.155	0.42859	D	0.994102	B	0.02656	0.0	B	0.06405	0.002	T	0.02901	-1.1096	10	0.40728	T	0.16	-14.8997	12.9469	0.58376	1.0:0.0:0.0:0.0	.	290	Q96C34	RUND1_HUMAN	G	290	ENSP00000354622:S290G	ENSP00000354622:S290G	S	+	1	0	RUNDC1	38395871	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.685000	0.61693	2.177000	0.69029	0.460000	0.39030	AGC	RUNDC1	-	NULL		0.463	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	A	NM_173079		41142345	1	no_errors	ENST00000361677	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41142345	A	G	41142345	3	3	141	1	0	0	0	0	1	0	0	0	13772	72	3	5	882	5	RUNDC1	17	41142345	Missense_Mutation	SNP	A	TCGA-HG-A2PA-01A-11D-A20U-09	30714470	41142345	40052865	61	23081										
PSTPIP2	9050	genome.wustl.edu	37	chr18	43579406	43579406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tagccctcctgggtacctttTcttgttgcttcgggttcacc	9	13	2	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr18:43579406T>C	ENST00000409746.5	-	7	583	c.512A>G	c.(511-513)gAa>gGa	p.E171G	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.E171G	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	171						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GGGTACCTTTTCTTGTTGCTT	0.468																																																	0													173	174	174					18																	43579406		2203	4300	6503	SO:0001583	missense	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.512A>G	18.37:g.43579406T>C	ENSP00000387261:p.Glu171Gly			Missense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.E171G	ENST00000409746.5	37	c.512	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912823	0.72983	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.54866	0.55	5.23	5.23	0.72850	.	0.104953	0.64402	D	0.000005	T	0.75087	0.3802	M	0.88640	2.97	0.49798	D	0.999821	D;D	0.76494	0.999;0.997	D;P	0.65987	0.94;0.907	T	0.80937	-0.1159	10	0.87932	D	0	-14.5185	14.3817	0.66916	0.0:0.0:0.0:1.0	.	171;171	Q9H939-2;Q9H939	.;PPIP2_HUMAN	G	171	ENSP00000387261:E171G	ENSP00000353189:E171G	E	-	2	0	PSTPIP2	41833404	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.843000	0.69424	2.105000	0.64084	0.402000	0.26972	GAA	PSTPIP2	-	NULL		0.468	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1	T			43579406	-1	no_errors	ENST00000409746	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43579406	T	C	43579406	3	2	141	1	0	0	0	0	1	0	0	0	12749	1783	62	5	524	5	PSTPIP2	18	43579406	Missense_Mutation	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09		43579406	34497842	62	23082										
TCEB3B	51224	genome.wustl.edu	37	chr18	44561176	44561176	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tattctggggcactttctctCagctctgggctcgcgactgt	11	12	4	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr18:44561176C>G	ENST00000332567.4	-	1	812	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	154					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CACTTTCTCTCAGCTCTGGGC	0.662																																																	0													52	60	57					18																	44561176		2203	4300	6503	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.460G>C	18.37:g.44561176C>G	ENSP00000331302:p.Glu154Gln		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.E154Q	ENST00000332567.4	37	c.460	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071911	0.08436	.	.	ENSG00000206181	ENST00000332567	T	0.09163	3.01	2.33	-4.65	0.03339	.	2.005960	0.02809	U	0.124071	T	0.07999	0.0200	L	0.33485	1.01	0.09310	N	1	B	0.21071	0.051	B	0.14578	0.011	T	0.27640	-1.0068	10	0.21540	T	0.41	-1.6045	6.2844	0.21025	0.0:0.3452:0.4509:0.204	.	154	Q8IYF1	ELOA2_HUMAN	Q	154	ENSP00000331302:E154Q	ENSP00000331302:E154Q	E	-	1	0	TCEB3B	42815174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.798000	0.04565	-2.238000	0.00712	-1.962000	0.00476	GAG	TCEB3B	-	NULL		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	C	NM_016427		44561176	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	missense	SNP	0.000	G	G	44561176	C	G	44561176	3	3	141	1	0	0	0	0	1	0	0	0	15712	835	29	1	1805	1	TCEB3B	18	44561176	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	981770	44561176	33516072	63	23083										
NAPSA	9476	genome.wustl.edu	37	chr19	50865026	50865026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tagaggctttgggatcaaatCggtggtgtaaccctaggtta	13	6	1	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:50865026C>T	ENST00000253719.2	-	4	570	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	121					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGGATCAAATCGGTGGTGTAA	0.532																																																	0													115	104	108					19																	50865026		2203	4300	6503	SO:0001583	missense	9476			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.362G>A	19.37:g.50865026C>T	ENSP00000253719:p.Arg121Gln		Q8WWD9	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.R121Q	ENST00000253719.2	37	c.362	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907027	0.33628	.	.	ENSG00000131400	ENST00000253719	T	0.57595	0.39	4.12	4.12	0.48240	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.108345	0.64402	D	0.000008	T	0.62624	0.2443	L	0.52573	1.65	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52366	-0.8585	10	0.59425	D	0.04	.	8.1835	0.31324	0.0:0.8853:0.0:0.1147	.	121	O96009	NAPSA_HUMAN	Q	121	ENSP00000253719:R121Q	ENSP00000253719:R121Q	R	-	2	0	NAPSA	55556838	0.000000	0.05858	0.223000	0.23860	0.010000	0.07245	0.234000	0.17930	1.997000	0.58415	0.484000	0.47621	CGA	NAPSA	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.532	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1	C	NM_004851		50865026	-1	no_errors	ENST00000253719	ensembl	human	known	70_37	missense	SNP	0.023	T	T	50865026	C	T	50865026	3	4	141	1	0	0	0	0	1	0	0	0	10189	884	31	1	924	1	NAPSA	19	50865026	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09		50865026	8263957	64	23084										
ZFP28	140612	genome.wustl.edu	37	chr19	57065086	57065086	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	acatgagacccaggaattatTtccaaagcaagattcatatg	7	8	1	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:57065086T>G	ENST00000301318.3	+	8	1003	c.932T>G	c.(931-933)tTt>tGt	p.F311C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAGGAATTATTTCCAAAGCAA	0.398																																					Ovarian(124;554 1662 19430 21141 52494)												0													69	64	66					19																	57065086		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.932T>G	19.37:g.57065086T>G	ENSP00000301318:p.Phe311Cys		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F311C	ENST00000301318.3	37	c.932	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388738	0.25118	.	.	ENSG00000196867	ENST00000301318	T	0.04917	3.53	4.82	3.76	0.43208	.	0.699408	0.12536	N	0.460353	T	0.07593	0.0191	L	0.32530	0.975	0.20403	N	0.999901	D	0.58620	0.983	P	0.46975	0.533	T	0.32052	-0.9921	10	0.39692	T	0.17	.	8.7847	0.34814	0.1689:0.0:0.0:0.8311	.	311	Q8NHY6	ZFP28_HUMAN	C	311	ENSP00000301318:F311C	ENSP00000301318:F311C	F	+	2	0	ZFP28	61756898	0.000000	0.05858	0.427000	0.26684	0.823000	0.46562	-0.254000	0.08781	0.806000	0.34183	0.533000	0.62120	TTT	ZFP28	-	NULL		0.398	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	T	NM_020828		57065086	1	no_errors	ENST00000301318	ensembl	human	known	70_37	missense	SNP	0.028	G	G	57065086	T	G	57065086	3	3	141	1	0	0	0	0	1	0	0	0	17672	1841	64	5	962	5	ZFP28	19	57065086	Missense_Mutation	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	6200060	57065086	2063897	65	23085										
SIGLEC1	6614	genome.wustl.edu	37	chr20	3677954	3677954	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gttggcttctgtgccctcctGaagtgtgtgtgatggtgcaa	14	8	1	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:3677954G>A	ENST00000344754.4	-	9	2157	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Q720*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	720	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGCCCTCCTGAAGTGTGTGT	0.637																																																	0													80	74	76					20																	3677954		2203	4300	6503	SO:0001587	stop_gained	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2158C>T	20.37:g.3677954G>A	ENSP00000341141:p.Gln720*		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q720*	ENST00000344754.4	37	c.2158	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.174054	0.94807	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	.	.	.	5.31	0.719	0.18208	.	2.898460	0.01241	N	0.008602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	2.8044	0.05423	0.0906:0.1522:0.4092:0.348	.	.	.	.	X	720	.	ENSP00000202578:Q720X	Q	-	1	0	SIGLEC1	3625954	0.028000	0.19301	0.001000	0.08648	0.063000	0.16089	1.113000	0.31184	0.352000	0.24053	0.561000	0.74099	CAG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	G	NM_023068		3677954	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	3677954	G	A	3677954	4	1	141	1	0	0	0	0	0	1	0	0	14335	1299	45	1	3023	1	SIGLEC1	20	3677954	Nonsense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		3677954	59347566	66	23086										
CHGB	1114	genome.wustl.edu	37	chr20	5904601	5904601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gaaaaggcaatatgacagggTggcccaactggaccagctcc	12	11	0	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:5904601T>C	ENST00000378961.4	+	4	2015	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	604						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TATGACAGGGTGGCCCAACTG	0.537																																																	0													34	34	34					20																	5904601		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1811T>C	20.37:g.5904601T>C	ENSP00000368244:p.Val604Ala		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.V604A	ENST00000378961.4	37	c.1811	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262872	0.80358	.	.	ENSG00000089199	ENST00000378961	T	0.01705	4.68	5.79	5.79	0.91817	.	0.097022	0.45126	D	0.000384	T	0.09949	0.0244	M	0.71581	2.175	0.34429	D	0.69835	D	0.71674	0.998	D	0.72075	0.976	T	0.03121	-1.1070	10	0.66056	D	0.02	-29.502	16.1262	0.81397	0.0:0.0:0.0:1.0	.	604	P05060	SCG1_HUMAN	A	604	ENSP00000368244:V604A	ENSP00000368244:V604A	V	+	2	0	CHGB	5852601	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.480000	0.66820	2.203000	0.70933	0.459000	0.35465	GTG	CHGB	-	pfam_Granin		0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	T	NM_001819		5904601	1	no_errors	ENST00000378961	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5904601	T	C	5904601	3	2	141	1	0	0	0	0	1	0	0	0	3344	1696	59	5	1825	5	CHGB	20	5904601	Missense_Mutation	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	2226647	5904601	57120919	67	23087										
SLC24A3	57419	genome.wustl.edu	37	chr20	19666001	19666001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ccgtacacaccattcgacacCccctgtaagaggttctatgt	7	14	1	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:19666001C>T	ENST00000328041.6	+	12	1517	c.1320C>T	c.(1318-1320)acC>acT	p.T440T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	440					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATTCGACACCCCCTGTAAGA	0.448																																																	0													138	123	128					20																	19666001		2203	4300	6503	SO:0001819	synonymous_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1320C>T	20.37:g.19666001C>T			B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.T440	ENST00000328041.6	37	c.1320	CCDS13140.1	20																																																																																			SLC24A3	-	tigrfam_K/Na/Ca-exchanger		0.448	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19666001	1	no_errors	ENST00000328041	ensembl	human	known	70_37	silent	SNP	0.995	T	T	19666001	C	T	19666001	2	4	141	1	0	0	0	0	0	0	0	1	14497	610	22	4		4	SLC24A3	20	19666001	Silent	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	13761400	19666001	43359519	68	23088										
TMEM90B	79953	genome.wustl.edu	37	chr20	24523867	24523867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tctggtgtctgtttacccagCgccccagtaccagagccacc	9	16	2	1	rs199777977		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:24523867C>T	ENST00000376862.3	+	2	767	c.134C>T	c.(133-135)gCg>gTg	p.A45V		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	45					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GTTTACCCAGCGCCCCAGTAC	0.582													C|||	1	0.000199681	0	0	5008	,	,		17083	0		0.001	False		,,,				2504	0																0								C	VAL/ALA	0,4406		0,0,2203	58	63	62		134	4.8	0.8	20		62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SYNDIG1	NM_024893.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	45/259	24523867	1,13005	2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.134C>T	20.37:g.24523867C>T	ENSP00000366058:p.Ala45Val		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.A45V	ENST00000376862.3	37	c.134	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513948	0.44763	0.0	1.16E-4	ENSG00000101463	ENST00000376862	D	0.91011	-2.77	5.72	4.76	0.60689	.	0.467618	0.23364	N	0.048981	D	0.84410	0.5466	L	0.47716	1.5	0.38885	D	0.956991	P	0.40144	0.704	B	0.31869	0.137	D	0.83558	0.0105	10	0.39692	T	0.17	-15.8547	9.8976	0.41329	0.0:0.9018:0.0:0.0982	.	45	Q9H7V2	SYNG1_HUMAN	V	45	ENSP00000366058:A45V	ENSP00000366058:A45V	A	+	2	0	SYNDIG1	24471867	0.658000	0.27402	0.828000	0.32881	0.638000	0.38207	3.789000	0.55454	1.359000	0.45940	0.655000	0.94253	GCG	SYNDIG1	-	NULL		0.582	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	C	NM_024893		24523867	1	no_errors	ENST00000376862	ensembl	human	known	70_37	missense	SNP	0.691	T	T	24523867	C	T	24523867	3	4	141	1	0	0	0	0	1	0	0	0	16249	768	27	2	136	2	TMEM90B	20	24523867	Missense_Mutation	SNP	C	TCGA-HG-A2PA-01A-11D-A20U-09	4857866	24523867	38501653	69	23089										
GDF5	8200	genome.wustl.edu	37	chr20	34025308	34025308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ggacagatcctgcttttgggGgtgccttgcctccgggaagc	15	11	0	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:34025308G>A	ENST00000374372.1	-	3	904	c.401C>T	c.(400-402)cCc>cTc	p.P134L	GDF5_ENST00000374369.3_Missense_Mutation_p.P134L			P43026	GDF5_HUMAN	growth differentiation factor 5	134					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGCTTTTGGGGGTGCCTTGCC	0.667																																																	0													55	61	59					20																	34025308		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.401C>T	20.37:g.34025308G>A	ENSP00000363492:p.Pro134Leu		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.P134L	ENST00000374372.1	37	c.401	CCDS13254.1	20	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220096	0.22373	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.79653	-1.29;-1.29	4.39	2.42	0.29668	.	0.949671	0.08724	N	0.903055	T	0.69097	0.3073	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58929	-0.7549	10	0.72032	D	0.01	.	9.9824	0.41821	0.1668:0.0:0.8332:0.0	.	134;134	F1T0J1;P43026	.;GDF5_HUMAN	L	134	ENSP00000363489:P134L;ENSP00000363492:P134L	ENSP00000363489:P134L	P	-	2	0	GDF5	33488722	0.985000	0.35326	0.907000	0.35723	0.645000	0.38454	3.330000	0.52068	0.472000	0.27344	0.313000	0.20887	CCC	GDF5	-	NULL		0.667	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	G			34025308	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	missense	SNP	0.267	A	A	34025308	G	A	34025308	3	1	141	1	0	0	0	0	1	0	0	0	6335	1232	43	4	1112	4	GDF5	20	34025308	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	9501441	34025308	29000212	70	23090										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47591380	47591380	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gtggagtggagcaaagacctGtatgtgaatcccaaccacca	11	10	0	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:47591380G>T	ENST00000371917.4	+	13	1743	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	581					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCAAAGACCTGTATGTGAATC	0.537																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													118	101	107					20																	47591380		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1743G>T	20.37:g.47591380G>T			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L581	ENST00000371917.4	37	c.1743	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold		0.537	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47591380	1	no_errors	ENST00000371917	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47591380	G	T	47591380	2	4	141	1	0	0	0	0	0	0	0	1	853	1364	48	4		4	ARFGEF2	20	47591380	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	13566072	47591380	15434140	71	23091										
TRIOBP	11078	genome.wustl.edu	37	chr22	38151132	38151132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	atgagctggatggtgagatcGacctgcgttcctgcacggat	14	9	0	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr22:38151132G>A	ENST00000406386.3	+	14	5767	c.5512G>A	c.(5512-5514)Gac>Aac	p.D1838N	TRIOBP_ENST00000403663.2_Missense_Mutation_p.D125N|TRIOBP_ENST00000407319.2_Missense_Mutation_p.D125N	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1838	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGGTGAGATCGACCTGCGTTC	0.637																																																	0													71	52	58					22																	38151132		2203	4300	6503	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5512G>A	22.37:g.38151132G>A	ENSP00000384312:p.Asp1838Asn		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1838N	ENST00000406386.3	37	c.5512	CCDS43015.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.183467|5.183467	0.94885|0.94885	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857|ENST00000428075	T;T;T;T;T;T|.	0.75704|.	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.61299|0.61299	0.2336|0.2336	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.976;0.99;0.997|.	T|T	0.58393|0.58393	-0.7644|-0.7644	9|5	0.42905|.	T|.	0.14|.	.|.	17.8134|17.8134	0.88623|0.88623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	125;125;1838|.	F8W6V6;F2Z2W0;Q9H2D6|.	.;.;TARA_HUMAN|.	N|Q	1838;125;125;84;54;54|78	ENSP00000384312:D1838N;ENSP00000383913:D125N;ENSP00000386026:D125N;ENSP00000396946:D84N;ENSP00000407542:D54N;ENSP00000387881:D54N|.	ENSP00000386026:D125N|.	D|R	+|+	1|2	0|0	TRIOBP|TRIOBP	36481078|36481078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.363000|9.363000	0.97131|0.97131	2.182000|2.182000	0.69389|0.69389	0.655000|0.655000	0.94253|0.94253	GAC|CGA	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38151132	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38151132	G	A	38151132	3	1	141	1	0	0	0	0	1	0	0	0	16584	1058	37	1	5745	1	TRIOBP	22	38151132	Missense_Mutation	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		38151132	13153434	72	23092										
SHANK3	85358	genome.wustl.edu	37	chr22	51117841	51117841	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	aacacagccctgcacatctgTgccctctacaaccaggtgcg	8	16	2	0	rs202089750	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr22:51117841T>C	ENST00000414786.2	+	7	1097	c.870T>C	c.(868-870)tgT>tgC	p.C290C	SHANK3_ENST00000262795.3_Silent_p.C290C|SHANK3_ENST00000445220.2_Silent_p.C290C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	290					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.C290C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCACATCTGTGCCCTCTACA	0.602																																																	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)											39	47	44					22																	51117841		2197	4296	6493	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.870T>C	22.37:g.51117841T>C			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.C290	ENST00000414786.2	37	c.870		22																																																																																			SHANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.602	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	T	NM_001080420		51117841	1	no_errors	ENST00000262795	ensembl	human	known	70_37	silent	SNP	1.000	C	C	51117841	T	C	51117841	2	2	141	1	0	0	0	0	0	0	0	1	14296	1702	59	5		5	SHANK3	22	51117841	Silent	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	12966709	51117841	186725	73	23093										
MAGEB1	4112	genome.wustl.edu	37	chrX	30269213	30269213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tttcccaggaatgggcttctGatgcctctcctgggtgtgat	12	10	2	2			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:30269213G>A	ENST00000378981.3	+	4	924	c.603G>A	c.(601-603)ctG>ctA	p.L201L	MAGEB1_ENST00000397550.1_Silent_p.L201L|MAGEB1_ENST00000397548.2_Silent_p.L201L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	201	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATGGGCTTCTGATGCCTCTCC	0.502																																																	0													87	65	72					X																	30269213		2202	4300	6502	SO:0001819	synonymous_variant	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.603G>A	X.37:g.30269213G>A			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L201	ENST00000378981.3	37	c.603	CCDS14222.1	X																																																																																			MAGEB1	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	G	NM_002363		30269213	1	no_errors	ENST00000378981	ensembl	human	known	70_37	silent	SNP	0.046	A	A	30269213	G	A	30269213	2	1	141	1	0	0	0	0	0	0	0	1	9195	1277	45	1		1	MAGEB1	23	30269213	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09		30269213	125001347	74	23094										
RPGR	6103	genome.wustl.edu	37	chrX	38145271	38145272	+	Intron	INS	-	-	CCC													0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ctccccttcttcttccccttINScctcctcttccccctcccct							TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:38145271_38145272insCCC	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_In_Frame_Ins_p.993_994insG|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ttcttccccttcctcctcttcc	0.609																																																	0									,	22,3370		0,22,0,1474,400					,	-0.6	0			12	50,5822		2,31,15,2183,1425	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	2,53,15,3657,1825	A1A1,A1R,A1,RR,R		0.8515,0.6486,0.7772	,	,		72,9192				SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1074->GGG	X.37:g.38145271_38145272insCCC			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.994in_frame_insG	ENST00000339363.3	37	c.2981_2980		X																																																																																			RPGR	-	NULL		0.609	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		-	NM_000328		38145272	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	in_frame_ins	INS	0.060:0.135	CCC	CCC	38145272	-	CCC	38145271	6	5	141	0	1	1	1	0	0	0	0	0	13578	1783	62	0		0	RPGR	23	38145271	Intron	INS	-	TCGA-HG-A2PA-01A-11D-A20U-09	7876058	38145271	117125289	75	23095										
OGT	8473	genome.wustl.edu	37	chrX	70779275	70779275	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cacaatcctgataaatttgaGgtaagactagtgtttctcta	7	7	1	3			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:70779275G>A	ENST00000373719.3	+	13	1978	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	OGT_ENST00000373701.3_Splice_Site_p.E577E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	587					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATAAATTTGAGGTAAGACTAG	0.413																																																	0													84	69	74					X																	70779275		2203	4300	6503	SO:0001630	splice_region_variant	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1761+1G>A	X.37:g.70779275G>A			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E587	ENST00000373719.3	37	c.1761	CCDS14414.1	X																																																																																			OGT	-	NULL		0.413	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	G	NM_003605, NM_181672	Silent	70779275	1	no_errors	ENST00000373719	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70779275	G	A	70779275	5	1	141	1	0	0	0	0	0	0	1	0	10871	1014	35	4	1811	4	OGT	23	70779275	Splice_Site	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	32634004	70779275	84491285	76	23096										
MAGEE1	57692	genome.wustl.edu	37	chrX	75649283	75649283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	gagggatcgagcacctccgtGccgcccacccctggtggggg	16	15	0	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:75649283G>A	ENST00000361470.2	+	1	1238	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	320	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCACCTCCGTGCCGCCCACCC	0.711																																																	0													21	21	21					X																	75649283		2202	4296	6498	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.960G>A	X.37:g.75649283G>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V320	ENST00000361470.2	37	c.960	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.711	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649283	1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.001	A	A	75649283	G	A	75649283	2	1	141	1	0	0	0	0	0	0	0	1	9208	1306	46	4		4	MAGEE1	23	75649283	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	4870008	75649283	79621277	77	23097			1	101		2	2	25	G		6.202012e-05
MAGEE1	57692	genome.wustl.edu	37	chrX	75649307	75649307	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	cccacccctggtgggggactGagcacctccgtgccgcccac	12	19	0	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:75649307G>A	ENST00000361470.2	+	1	1262	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	328	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGGGGGACTGAGCACCTCCG	0.711																																																	0													21	21	21					X																	75649307		2200	4295	6495	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.984G>A	X.37:g.75649307G>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L328	ENST00000361470.2	37	c.984	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.711	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649307	1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.000	A	A	75649307	G	A	75649307	2	1	141	1	0	0	0	0	0	0	0	1	9208	1277	45	1		1	MAGEE1	23	75649307	Silent	SNP	G	TCGA-HG-A2PA-01A-11D-A20U-09	24	75649307	79621253	78	23098			1	101		2	2	25	G		6.202012e-05
HDX	139324	genome.wustl.edu	37	chrX	83724332	83724332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	ttctgaatagggattttatgTgcttctgtaatttgtgtgtc	10	4	2	1			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:83724332T>C	ENST00000297977.5	-	3	510	c.399A>G	c.(397-399)gcA>gcG	p.A133A	HDX_ENST00000506585.2_Silent_p.A75A|HDX_ENST00000373177.2_Silent_p.A133A	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	133						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGATTTTATGTGCTTCTGTAA	0.378																																					Pancreas(53;231 1169 36156 43751 51139)												0													258	215	230					X																	83724332		2203	4300	6503	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.399A>G	X.37:g.83724332T>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A133	ENST00000297977.5	37	c.399	CCDS35342.1	X																																																																																			HDX	-	NULL		0.378	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	T	NM_144657		83724332	-1	no_errors	ENST00000297977	ensembl	human	known	70_37	silent	SNP	0.946	C	C	83724332	T	C	83724332	2	2	141	1	0	0	0	0	0	0	0	1	7046	1683	59	5		5	HDX	23	83724332	Silent	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	8075025	83724332	71546228	79	23099										
COL4A6	1288	genome.wustl.edu	37	chrX	107418434	107418434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1375	11	0.0666824793984046	1.71664152840623	2.00646412411118	1.66325315551322	0.0183066361556064	0.0682978348882239	0	tattccgactggccccggatTgcctctgtctcctgcaggga	11	14	2	0			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:107418434T>C	ENST00000372216.4	-	30	2945	c.2845A>G	c.(2845-2847)Aat>Gat	p.N949D	COL4A6_ENST00000334504.7_Missense_Mutation_p.N948D|COL4A6_ENST00000538570.1_Missense_Mutation_p.N948D|COL4A6_ENST00000394872.2_Missense_Mutation_p.N949D|COL4A6_ENST00000545689.1_Missense_Mutation_p.N948D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	949	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCCCCGGATTGCCTCTGTCT	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													164	149	154					X																	107418434		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2845A>G	X.37:g.107418434T>C	ENSP00000361290:p.Asn949Asp		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.N949D	ENST00000372216.4	37	c.2845	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	T	6.715	0.500678	0.12822	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.08	2.22	0.28083	.	0.697709	0.12436	N	0.469093	T	0.78304	0.4262	N	0.02751	-0.505	0.09310	N	1	B;B;B;B	0.11235	0.002;0.003;0.004;0.002	B;B;B;B	0.17433	0.007;0.018;0.012;0.004	T	0.66176	-0.5989	10	0.02654	T	1	.	5.2734	0.15636	0.0:0.5829:0.1466:0.2705	.	948;948;949;948	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	D	949;948;949;948;948;948	ENSP00000361290:N949D;ENSP00000334733:N948D;ENSP00000378340:N949D;ENSP00000443707:N948D;ENSP00000445236:N948D	ENSP00000334733:N948D	N	-	1	0	COL4A6	107305090	0.000000	0.05858	0.001000	0.08648	0.729000	0.41735	-0.033000	0.12246	0.179000	0.19938	-0.293000	0.09583	AAT	COL4A6	-	pfam_Collagen		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	T			107418434	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.003	C	C	107418434	T	C	107418434	3	2	141	1	0	0	0	0	1	0	0	0	3700	1812	63	5	2294	5	COL4A6	23	107418434	Missense_Mutation	SNP	T	TCGA-HG-A2PA-01A-11D-A20U-09	23694102	107418434	47852126	80	23100										
C1orf175	374977	genome.wustl.edu	37	chr1	55118805	55118805	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	1	0.596436175392952	1.55952380952381	6.23809523809524	0	1	1	0	tgattctttgagtccagtctCaggggaggcctcaggcctgg	14	10	3	2			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr1:55118805C>G	ENST00000421030.2	+	3	491	c.206C>G	c.(205-207)tCa>tGa	p.S69*	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Nonsense_Mutation_p.S69*|MROH7-TTC4_ENST00000414150.2_Nonsense_Mutation_p.S69*|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Nonsense_Mutation_p.S69*	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	69						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGTCCAGTCTCAGGGGAGGCC	0.552																																																	0													70	70	70					1																	55118805		1914	4123	6037	SO:0001587	stop_gained	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.206C>G	1.37:g.55118805C>G	ENSP00000396622:p.Ser69*		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S69*	ENST00000421030.2	37	c.206	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.265407	0.95399	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	.	.	.	3.37	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.33262	D	0.559921	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5088	0.44849	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000343211:S69X	S	+	2	0	HEATR8	54891393	0.001000	0.12720	0.012000	0.15200	0.020000	0.10135	0.944000	0.29043	2.181000	0.69327	0.561000	0.74099	TCA	HEATR8	-	NULL		0.552	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	C	NM_198547		55118805	1	no_errors	ENST00000421030	ensembl	human	known	70_37	nonsense	SNP	0.013	G	G	55118805	C	G	55118805	4	3	142	1	0	0	0	0	0	1	0	0	2021	838	29	1	208	1	C1orf175	1	55118805	Nonsense_Mutation	SNP	C	TCGA-HM-A3JJ-01A-21D-A21Q-09		55118805	194131816	1	23101										
RETSAT	54884	genome.wustl.edu	37	chr2	85577274	85577274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	1	0.596436175392952	1.55952380952381	6.23809523809524	0	1	1	0	ttgaaggaatggagagaaacGagtcagcagcccacacctgt	12	9	1	2			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr2:85577274G>A	ENST00000295802.4	-	4	800	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	RETSAT_ENST00000263854.6_Missense_Mutation_p.R230C|RETSAT_ENST00000457495.2_Missense_Mutation_p.R169C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	230					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAGAGAAACGAGTCAGCAGC	0.587																																																	0													90	88	89					2																	85577274		2203	4300	6503	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.688C>T	2.37:g.85577274G>A	ENSP00000295802:p.Arg230Cys		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.R230C	ENST00000295802.4	37	c.688	CCDS1972.1	2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209876	0.58343	.	.	ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495	T;T;T	0.60171	0.21;0.21;0.21	5.82	1.55	0.23275	.	0.462761	0.24759	N	0.035838	T	0.65709	0.2717	M	0.76574	2.34	0.18873	N	0.999982	D;D	0.71674	0.998;0.99	P;P	0.57776	0.827;0.586	T	0.55982	-0.8054	10	0.39692	T	0.17	-0.0376	8.3234	0.32142	0.4286:0.0:0.5714:0.0	.	169;230	G5E9N3;Q6NUM9	.;RETST_HUMAN	C	230;230;169	ENSP00000295802:R230C;ENSP00000263854:R230C;ENSP00000405040:R169C	ENSP00000263854:R230C	R	-	1	0	RETSAT	85430785	0.000000	0.05858	0.010000	0.14722	0.972000	0.66771	0.348000	0.20031	0.394000	0.25230	0.655000	0.94253	CGT	RETSAT	-	pfam_FAD-dep_OxRdtase		0.587	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	G	NM_017750		85577274	-1	no_errors	ENST00000295802	ensembl	human	known	70_37	missense	SNP	0.000	A	A	85577274	G	A	85577274	3	1	142	1	0	0	0	0	1	0	0	0	13268	1058	37	1	1176	1	RETSAT	2	85577274	Missense_Mutation	SNP	G	TCGA-HM-A3JJ-01A-21D-A21Q-09		85577274	157622099	2	23102										
PLCH1	23007	genome.wustl.edu	37	chr3	155311967	155311967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	1	0.596436175392952	1.55952380952381	6.23809523809524	0	1	1	0	tcactttgtaaatggaatcaAtaagtactgtgaggaaaatg	9	4	2	1	rs376738258		TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr3:155311967A>G	ENST00000340059.7	-	3	196	c.197T>C	c.(196-198)aTt>aCt	p.I66T	PLCH1_ENST00000494598.1_Missense_Mutation_p.I66T|PLCH1_ENST00000460012.1_Missense_Mutation_p.I48T|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48T|PLCH1_ENST00000447496.2_Missense_Mutation_p.I66T|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	66	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGAATCAATAAGTACTGT	0.403																																																	0								A	THR/ILE,THR/ILE,THR/ILE	0,4406		0,0,2203	49	51	51		197,197,143	6.1	1	3		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	89,89,89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	66/1694,66/1003,48/1656	155311967	1,13005	2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.197T>C	3.37:g.155311967A>G	ENSP00000345988:p.Ile66Thr		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.I66T	ENST00000340059.7	37	c.197	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462556	0.84425	0.0	1.16E-4	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.83857	0.5345	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.987;0.987	D	0.86345	0.1707	10	0.87932	D	0	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	48;66;66	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	T	66;48;66;66;48;48	ENSP00000419100:I66T;ENSP00000417502:I48T;ENSP00000402759:I66T;ENSP00000345988:I66T;ENSP00000335469:I48T;ENSP00000412977:I48T	ENSP00000335469:I48T	I	-	2	0	PLCH1	156794661	1.000000	0.71417	0.989000	0.46669	0.919000	0.55068	9.210000	0.95106	2.326000	0.78906	0.533000	0.62120	ATT	PLCH1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	A	NM_014996		155311967	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155311967	A	G	155311967	3	3	142	1	0	0	0	0	1	0	0	0	12061	101	4	5	4983	5	PLCH1	3	155311967	Missense_Mutation	SNP	A	TCGA-HM-A3JJ-01A-21D-A21Q-09		155311967	42710463	3	23103										
TSHZ1	10194	genome.wustl.edu	37	chr18	72999335	72999335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	1	0.596436175392952	1.55952380952381	6.23809523809524	0	1	1	0	catcaagaaggaggagagacCccctgagaaggagaagagct	14	8	1	5			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr18:72999335C>T	ENST00000580243.1	+	2	2321	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P613L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	658					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GAGGAGAGACCCCCTGAGAAG	0.577																																																	0													106	91	96					18																	72999335		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1973C>T	18.37:g.72999335C>T	ENSP00000464391:p.Pro658Leu		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.P658L	ENST00000580243.1	37	c.1973		18	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101744	0.08731	.	.	ENSG00000179981	ENST00000322038	T	0.25085	1.82	4.79	3.01	0.34805	.	0.288700	0.34676	N	0.003771	T	0.16214	0.0390	N	0.22421	0.69	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.28744	-1.0034	10	0.39692	T	0.17	-15.311	8.5295	0.33326	0.0:0.7628:0.0:0.2372	.	658	Q6ZSZ6	TSH1_HUMAN	L	613	ENSP00000323584:P613L	ENSP00000323584:P613L	P	+	2	0	TSHZ1	71128323	0.460000	0.25776	0.001000	0.08648	0.979000	0.70002	2.065000	0.41442	-1.488000	0.01847	0.561000	0.74099	CCC	TSHZ1	-	NULL		0.577	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	C	NM_005786		72999335	1	no_errors	ENST00000580243	ensembl	human	known	70_37	missense	SNP	0.000	T	T	72999335	C	T	72999335	3	4	142	1	0	0	0	0	1	0	0	0	16654	623	22	4	1840	4	TSHZ1	18	72999335	Missense_Mutation	SNP	C	TCGA-HM-A3JJ-01A-21D-A21Q-09		72999335	5077913	4	23104										
ELAVL1	1994	genome.wustl.edu	37	chr19	8056669	8056669	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.166666666666667	1	0.596436175392952	1.55952380952381	6.23809523809524	0	1	1	0	gatgtcacccctgcagtcttCggccatgtggtcttcataac	9	13	4	0	rs368659692		TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr19:8056669C>A	ENST00000407627.2	-	2	160	c.31G>T	c.(31-33)Gaa>Taa	p.E11*	ELAVL1_ENST00000596459.1_Nonsense_Mutation_p.E11*|ELAVL1_ENST00000351593.5_Nonsense_Mutation_p.E38*|ELAVL1_ENST00000593807.1_Nonsense_Mutation_p.E11*	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	11					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.E11K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGCAGTCTTCGGCCATGTGG	0.418																																																	1	Substitution - Missense(1)	breast(1)											142	124	130					19																	8056669		2203	4300	6503	SO:0001587	stop_gained	1994			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.31G>T	19.37:g.8056669C>A	ENSP00000385269:p.Glu11*		B4DVB8|Q53XN6|Q9BTT1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.E38*	ENST00000407627.2	37	c.112	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.173258	0.97348	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	.	.	.	5.67	3.52	0.40303	.	0.260360	0.38326	N	0.001723	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.6032	0.33758	0.1526:0.7677:0.0:0.0798	.	.	.	.	X	11;38	.	ENSP00000264073:E38X	E	-	1	0	ELAVL1	7962669	1.000000	0.71417	0.937000	0.37676	0.993000	0.82548	5.357000	0.66058	0.738000	0.32606	0.655000	0.94253	GAA	ELAVL1	-	NULL		0.418	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	C	NM_001419		8056669	-1	no_errors	ENST00000351593	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	8056669	C	A	8056669	4	1	142	1	0	0	0	0	0	1	0	0	5061	893	31	3	969	3	ELAVL1	19	8056669	Nonsense_Mutation	SNP	C	TCGA-HM-A3JJ-01A-21D-A21Q-09		8056669	51072314	5	23105										
PRAF2	11230	genome.wustl.edu	37	chrX	48931629	48931629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	1	0.596436175392952	1.55952380952381	6.23809523809524	0	1	1	0	tccagggcgcgtagcggtggCagccgcacctccgacatcct	13	16	0	0			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chrX:48931629C>T	ENST00000376390.4	-	1	101	c.18G>A	c.(16-18)ctG>ctA	p.L6L	PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376386.3_Silent_p.L6L|WDR45_ENST00000465431.1_5'Flank|AF196779.12_ENST00000376358.3_Intron	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	6					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GTAGCGGTGGCAGCCGCACCT	0.682																																																	0													30	26	27					X																	48931629		2197	4298	6495	SO:0001819	synonymous_variant	11230			BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"PRA1 domain family 2"			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.18G>A	X.37:g.48931629C>T			B2RD20	Silent	SNP	pfam_Prenylated_rab_accept_PRA1	p.L6	ENST00000376390.4	37	c.18	CCDS14317.1	X																																																																																			PRAF2	-	pfam_Prenylated_rab_accept_PRA1		0.682	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAF2	HGNC	protein_coding	OTTHUMT00000083415.2	C	NM_007213		48931629	-1	no_errors	ENST00000376390	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48931629	C	T	48931629	2	4	142	1	0	0	0	0	0	0	0	1	12449	697	25	4		4	PRAF2	23	48931629	Silent	SNP	C	TCGA-HM-A3JJ-01A-21D-A21Q-09		48931629	106338931	6	23106										
ACAP3	116983	genome.wustl.edu	37	chr1	1235269	1235269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gcttttccaccgcagagtcgAtcaccagctggtccagctgt	10	14	1	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:1235269A>C	ENST00000354700.5	-	9	882	c.680T>G	c.(679-681)aTc>aGc	p.I227S	ACAP3_ENST00000353662.3_Missense_Mutation_p.I185S|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	227					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGCAGAGTCGATCACCAGCTG	0.677																																																	0													23	25	25					1																	1235269		2185	4288	6473	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.680T>G	1.37:g.1235269A>C	ENSP00000346733:p.Ile227Ser		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.I185S	ENST00000354700.5	37	c.554	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	A	9.460	1.092857	0.20471	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.03831	3.79;3.79	3.94	3.94	0.45596	.	0.182924	0.45361	D	0.000376	T	0.04634	0.0126	L	0.46157	1.445	0.41798	D	0.989901	B;B;P	0.35272	0.009;0.411;0.493	B;B;B	0.31101	0.054;0.118;0.124	T	0.32534	-0.9903	10	0.07644	T	0.81	.	13.4915	0.61397	1.0:0.0:0.0:0.0	.	267;227;185	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	S	227;185	ENSP00000346733:I227S;ENSP00000321139:I185S	ENSP00000321139:I185S	I	-	2	0	ACAP3	1225132	1.000000	0.71417	0.988000	0.46212	0.769000	0.43574	8.698000	0.91311	1.739000	0.51704	0.260000	0.18958	ATC	ACAP3	-	NULL		0.677	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	A	NM_030649		1235269	-1	no_errors	ENST00000353662	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1235269	A	C	1235269	3	2	143	1	0	0	0	0	1	0	0	0	120	333	12	5	1888	5	ACAP3	1	1235269	Missense_Mutation	SNP	A	TCGA-HM-A3JK-01A-11D-A21Q-09		1235269	248015352	1	23107										
KAZ	23254	genome.wustl.edu	37	chr1	15421416	15421416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tcgaggactaccgtgatgccGaggcaggccgcaggtgagcc	16	12	0	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:15421416G>A	ENST00000376030.2	+	10	1828	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	512					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCGTGATGCCGAGGCAGGCCG	0.677																																																	0													5	7	6					1																	15421416		1737	3546	5283	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1534G>A	1.37:g.15421416G>A	ENSP00000365198:p.Glu512Lys		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E512K	ENST00000376030.2	37	c.1534	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539479	0.65085	.	.	ENSG00000189337	ENST00000376030	T	0.18810	2.19	4.44	4.44	0.53790	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.50333	1.59	0.80722	D	1	P	0.42161	0.772	B	0.30943	0.122	T	0.05053	-1.0909	10	0.52906	T	0.07	-14.8565	12.9292	0.58276	0.0:0.0:1.0:0.0	.	512	Q674X7	KAZRN_HUMAN	K	512	ENSP00000365198:E512K	ENSP00000365198:E512K	E	+	1	0	KAZN	15294003	1.000000	0.71417	0.661000	0.29709	0.692000	0.40212	6.556000	0.73932	2.168000	0.68352	0.561000	0.74099	GAG	KAZN	-	superfamily_SAM/pointed		0.677	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15421416	1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	0.997	A	A	15421416	G	A	15421416	3	1	143	1	0	0	0	0	1	0	0	0	8008	1059	37	1	1828	1	KAZ	1	15421416	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	14186147	15421416	233829205	2	23108										
DOCK7	85440	genome.wustl.edu	37	chr1	63052286	63052286	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	agactctgagggtatatgtaGagaagatttctgtgaaagca	12	4	2	5			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:63052286G>C	ENST00000340370.5	-	15	1709	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	DOCK7_ENST00000404627.2_Silent_p.L564L|DOCK7_ENST00000251157.5_Silent_p.L564L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	564	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGTATATGTAGAGAAGATTTC	0.338																																																	0													88	88	88					1																	63052286		2203	4300	6503	SO:0001819	synonymous_variant	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1692C>G	1.37:g.63052286G>C			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L564	ENST00000340370.5	37	c.1692	CCDS30734.1	1																																																																																			DOCK7	-	NULL		0.338	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	G	NM_033407		63052286	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	silent	SNP	0.995	C	C	63052286	G	C	63052286	2	2	143	1	0	0	0	0	0	0	0	1	4702	929	33	1		1	DOCK7	1	63052286	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	47630870	63052286	186198335	3	23109										
CACHD1	57685	genome.wustl.edu	37	chr1	65099846	65099846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	atgtccacctttgttagcagCgtgaagtcttcagacagtcc	9	11	2	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:65099846C>T	ENST00000371073.2	+	7	909	c.909C>T	c.(907-909)agC>agT	p.S303S	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.S252S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	303	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTGTTAGCAGCGTGAAGTCTT	0.468																																																	0													108	90	96					1																	65099846		2203	4300	6503	SO:0001819	synonymous_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.909C>T	1.37:g.65099846C>T			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.S303	ENST00000371073.2	37	c.909		1																																																																																			CACHD1	-	pfscan_VWF_A		0.468	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65099846	1	no_errors	ENST00000371073	ensembl	human	known	70_37	silent	SNP	0.978	T	T	65099846	C	T	65099846	2	4	143	1	0	0	0	0	0	0	0	1	2542	767	27	2		2	CACHD1	1	65099846	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	2047560	65099846	184150775	4	23110										
DENND4B	9909	genome.wustl.edu	37	chr1	153912202	153912202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cttggacttcgcgctccagcCgggccctgcggccacacact	11	18	0	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:153912202C>T	ENST00000361217.4	-	12	2100	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	561					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGCTCCAGCCGGGCCCTGCG	0.647																																																	0													57	68	65					1																	153912202		2053	4184	6237	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1682G>A	1.37:g.153912202C>T	ENSP00000354597:p.Arg561Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R561Q	ENST00000361217.4	37	c.1682	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370897	0.24771	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06371	3.31;3.31	5.14	4.23	0.50019	.	0.301676	0.32884	N	0.005535	T	0.00637	0.0021	N	0.02011	-0.69	0.39548	D	0.968922	B	0.02656	0.0	B	0.01281	0.0	T	0.44862	-0.9300	10	0.06236	T	0.91	-21.8805	6.9954	0.24779	0.0:0.7446:0.0:0.2554	.	561	O75064	DEN4B_HUMAN	Q	561;572	ENSP00000354597:R561Q;ENSP00000357635:R572Q	ENSP00000354597:R561Q	R	-	2	0	DENND4B	152178826	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	1.892000	0.39748	1.415000	0.47037	0.462000	0.41574	CGG	DENND4B	-	NULL		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153912202	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153912202	C	T	153912202	3	4	143	1	0	0	0	0	1	0	0	0	4444	652	23	2	2876	2	DENND4B	1	153912202	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	88812356	153912202	95338419	5	23111										
NUP210L	91181	genome.wustl.edu	37	chr1	153995690	153995690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gtgaaggtaagagacatgccCaagggaaatgctgacagggt	15	6	0	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:153995690C>T	ENST00000368559.3	-	31	4277	c.4206G>A	c.(4204-4206)ttG>ttA	p.L1402L	NUP210L_ENST00000271854.3_Silent_p.L1402L|NUP210L_ENST00000368553.1_Silent_p.L335L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1402					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGACATGCCCAAGGGAAATG	0.483																																																	0													124	125	125					1																	153995690		1943	4133	6076	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4206G>A	1.37:g.153995690C>T			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L1402	ENST00000368559.3	37	c.4206	CCDS41399.1	1																																																																																			NUP210L	-	NULL		0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		153995690	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153995690	C	T	153995690	2	4	143	1	0	0	0	0	0	0	0	1	10785	593	21	4		4	NUP210L	1	153995690	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	83488	153995690	95254931	6	23112										
GLRX2	51022	genome.wustl.edu	37	chr1	193070288	193070288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cacttggatctggttcacagGcgccgtcgctaaattctcca	9	13	3	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:193070288G>A	ENST00000367439.3	-	2	214	c.166C>T	c.(166-168)Cct>Tct	p.P56S	GLRX2_ENST00000367440.3_Missense_Mutation_p.P57S|GLRX2_ENST00000472197.1_5'UTR	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	56					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	TGGTTCACAGGCGCCGTCGCT	0.333																																																	0													76	74	74					1																	193070288		2203	4300	6503	SO:0001583	missense	51022			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.166C>T	1.37:g.193070288G>A	ENSP00000356409:p.Pro56Ser		Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.P57S	ENST00000367439.3	37	c.169	CCDS1381.1	1	.	.	.	.	.	.	.	.	.	.	G	9.898	1.206033	0.22205	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.33438	1.41;1.45	5.0	4.02	0.46733	Thioredoxin-like fold (2);	0.285757	0.38778	N	0.001575	T	0.38852	0.1056	L	0.58101	1.795	0.21064	N	0.999792	D;P	0.56287	0.975;0.73	P;B	0.57720	0.826;0.256	T	0.16012	-1.0417	10	0.16420	T	0.52	-31.2569	8.0391	0.30511	0.0:0.1717:0.651:0.1773	.	57;56	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	S	56;57	ENSP00000356409:P56S;ENSP00000356410:P57S	ENSP00000356409:P56S	P	-	1	0	GLRX2	191336911	0.813000	0.29090	0.392000	0.26245	0.003000	0.03518	1.470000	0.35354	2.464000	0.83262	0.655000	0.94253	CCT	GLRX2	-	superfamily_Thioredoxin-like_fold		0.333	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLRX2	HGNC	protein_coding	OTTHUMT00000086699.1	G	NM_016066		193070288	-1	no_errors	ENST00000367440	ensembl	human	known	70_37	missense	SNP	0.197	A	A	193070288	G	A	193070288	3	1	143	1	0	0	0	0	1	0	0	0	6479	1203	42	4	340	4	GLRX2	1	193070288	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	39074598	193070288	56180333	7	23113										
PLXNA2	5362	genome.wustl.edu	37	chr1	208224391	208224391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cattgaatttgactcggatcCttggctcctgaatgacatcc	8	11	0	4			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:208224391C>T	ENST00000367033.3	-	17	3975	c.3218G>A	c.(3217-3219)aGg>aAg	p.R1073K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1073	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1073M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACTCGGATCCTTGGCTCCTG	0.478																																																	1	Substitution - Missense(1)	lung(1)											116	109	111					1																	208224391		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3218G>A	1.37:g.208224391C>T	ENSP00000356000:p.Arg1073Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1073K	ENST00000367033.3	37	c.3218	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395923	0.62177	.	.	ENSG00000076356	ENST00000367033	T	0.75154	-0.91	5.24	5.24	0.73138	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	L	0.41027	1.25	0.80722	D	1	B	0.29378	0.243	B	0.31101	0.124	T	0.65150	-0.6238	10	0.29301	T	0.29	.	18.8474	0.92212	0.0:1.0:0.0:0.0	.	1073	O75051	PLXA2_HUMAN	K	1073	ENSP00000356000:R1073K	ENSP00000356000:R1073K	R	-	2	0	PLXNA2	206291014	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.724000	0.61972	2.440000	0.82611	0.557000	0.71058	AGG	PLXNA2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.478	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208224391	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	208224391	C	T	208224391	3	4	143	1	0	0	0	0	1	0	0	0	12144	681	24	4	2530	4	PLXNA2	1	208224391	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	15154103	208224391	41026230	8	23114										
TSN	7247	genome.wustl.edu	37	chr2	122516333	122516333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	aacattttggtacagtaaaaAcacatctaacatctttgaag	5	7	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:122516333A>G	ENST00000389682.3	+	3	455	c.208A>G	c.(208-210)Aca>Gca	p.T70A	TSN_ENST00000498545.1_Intron|TSN_ENST00000536142.1_Missense_Mutation_p.T70A|TSN_ENST00000409193.1_Missense_Mutation_p.T65A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	70					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TACAGTAAAAACACATCTAAC	0.294																																																	0													81	83	82					2																	122516333		2203	4300	6503	SO:0001583	missense	7247			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"recombination hotspot associated factor"	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.208A>G	2.37:g.122516333A>G	ENSP00000374332:p.Thr70Ala		B7Z3X8|Q5U0K7	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.T70A	ENST00000389682.3	37	c.208	CCDS33284.1	2	.	.	.	.	.	.	.	.	.	.	A	7.313	0.615426	0.14129	.	.	ENSG00000211460	ENST00000389682;ENST00000536142;ENST00000413418;ENST00000409193	.	.	.	5.32	4.17	0.49024	Translin, N-terminal (1);	0.158191	0.56097	D	0.000032	T	0.28333	0.0700	N	0.12471	0.22	0.35933	D	0.832687	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.18241	-1.0343	9	0.09338	T	0.73	-12.7107	7.9286	0.29889	0.8408:0.0:0.1592:0.0	.	70;23;70	B7Z3X8;B3KRM8;Q15631	.;.;TSN_HUMAN	A	70;70;36;65	.	ENSP00000374332:T70A	T	+	1	0	TSN	122232803	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.505000	0.60421	0.862000	0.35528	-0.274000	0.10170	ACA	TSN	-	pfam_Translin,superfamily_Translin		0.294	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSN	HGNC	protein_coding	OTTHUMT00000330767.1	A	NM_004622		122516333	1	no_errors	ENST00000389682	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122516333	A	G	122516333	3	3	143	1	0	0	0	0	1	0	0	0	16660	43	2	5	218	5	TSN	2	122516333	Missense_Mutation	SNP	A	TCGA-HM-A3JK-01A-11D-A21Q-09		122516333	120683040	9	23115										
PLA2R1	22925	genome.wustl.edu	37	chr2	160901448	160901448	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cagcgccaccgtaaggaaacGagggtggagtcacattcata	12	10	2	0	rs147284017	byFrequency	TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:160901448G>A	ENST00000283243.7	-	2	536	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_ENST00000392771.1_Silent_p.L110L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	110	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542																																																	0													77	76	76					2																	160901448		2203	4300	6503	SO:0001819	synonymous_variant	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.330C>T	2.37:g.160901448G>A			B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L110	ENST00000283243.7	37	c.330	CCDS33309.1	2																																																																																			PLA2R1	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.542	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	G			160901448	-1	no_errors	ENST00000283243	ensembl	human	known	70_37	silent	SNP	0.000	A	A	160901448	G	A	160901448	2	1	143	1	0	0	0	0	0	0	0	1	12034	1045	37	1		1	PLA2R1	2	160901448	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	38385115	160901448	82297925	10	23116										
LRP2	4036	genome.wustl.edu	37	chr2	170048422	170048422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctcctggtgcaattctgattCtcatcgtagccgtcagtaca	8	12	3	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:170048422C>T	ENST00000263816.3	-	48	9237	c.8952G>A	c.(8950-8952)gaG>gaA	p.E2984E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2984	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AATTCTGATTCTCATCGTAGC	0.473																																																	0													98	92	94					2																	170048422		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8952G>A	2.37:g.170048422C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E2984	ENST00000263816.3	37	c.8952	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170048422	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	0.920	T	T	170048422	C	T	170048422	2	4	143	1	0	0	0	0	0	0	0	1	8979	912	32	1		1	LRP2	2	170048422	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	9146974	170048422	73150951	11	23117										
CCDC108	255101	genome.wustl.edu	37	chr2	219897276	219897276	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tgagggatgaccgtgaagaaGaacttggtcttggggggcct	17	6	1	5			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:219897276G>A	ENST00000341552.5	-	6	644	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CCDC108_ENST00000441968.1_Silent_p.F187F|CCDC108_ENST00000409865.3_Silent_p.F176F|CCDC108_ENST00000453220.1_Silent_p.F187F|CCDC108_ENST00000410037.1_Silent_p.F122F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	187						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGAAGAAGAACTTGGTCT	0.612																																																	0													59	49	53					2																	219897276		2202	4300	6502	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.561C>T	2.37:g.219897276G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.F187	ENST00000341552.5	37	c.561	CCDS2430.2	2																																																																																			CCDC108	-	NULL		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219897276	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	silent	SNP	1.000	A	A	219897276	G	A	219897276	2	1	143	1	0	0	0	0	0	0	0	1	2748	933	33	1		1	CCDC108	2	219897276	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	49848854	219897276	23302097	12	23118										
USP40	55230	genome.wustl.edu	37	chr2	234429677	234429677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ttttaacttgcttctcttcaGattctaactggcataaattt	4	8	3	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:234429677G>C	ENST00000427112.2	-	16	2317	c.2282C>G	c.(2281-2283)tCt>tGt	p.S761C	USP40_ENST00000251722.6_Missense_Mutation_p.S761C|USP40_ENST00000450966.1_Missense_Mutation_p.S773C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	761					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTCTCTTCAGATTCTAACTG	0.333																																																	0													115	105	108					2																	234429677		1822	4068	5890	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2282C>G	2.37:g.234429677G>C	ENSP00000387898:p.Ser761Cys		Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S773C	ENST00000427112.2	37	c.2318	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111979	0.37242	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.43	4.5	0.54988	.	2.570310	0.01162	N	0.006665	T	0.49338	0.1551	L	0.48362	1.52	0.26255	N	0.978663	B;B	0.19200	0.02;0.034	B;B	0.19148	0.011;0.024	T	0.39078	-0.9631	10	0.52906	T	0.07	.	12.9153	0.58203	0.0:0.1633:0.8367:0.0	.	761;773	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	773;761;761;56	ENSP00000415434:S773C;ENSP00000251722:S761C;ENSP00000387898:S761C;ENSP00000408853:S56C	ENSP00000251722:S761C	S	-	2	0	USP40	234094416	0.795000	0.28851	0.868000	0.34077	0.915000	0.54546	2.092000	0.41700	2.553000	0.86117	0.585000	0.79938	TCT	USP40	-	NULL		0.333	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	G	XM_114294		234429677	-1	no_errors	ENST00000450966	ensembl	human	known	70_37	missense	SNP	0.928	C	C	234429677	G	C	234429677	3	2	143	1	0	0	0	0	1	0	0	0	17103	942	33	1	1489	1	USP40	2	234429677	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	14532401	234429677	8769696	13	23119										
EFHB	151651	genome.wustl.edu	37	chr3	19947139	19947139	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gttcatggagccaatatagaGattttgccatggctcgtcca	10	9	1	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:19947139G>C	ENST00000295824.9	-	6	1552	c.1391C>G	c.(1390-1392)tCt>tGt	p.S464C	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.S334C	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	464							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAATATAGAGATTTTGCCAT	0.368																																																	0													107	111	110					3																	19947139		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1391C>G	3.37:g.19947139G>C	ENSP00000295824:p.Ser464Cys		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S464C	ENST00000295824.9	37	c.1391	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771651	0.02951	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.28454	1.95;1.96;2.24;1.61	4.83	1.79	0.24919	.	0.778438	0.11842	N	0.524215	T	0.14485	0.0350	N	0.04203	-0.255	0.21627	N	0.999618	B;B	0.23806	0.091;0.031	B;B	0.15052	0.012;0.007	T	0.23904	-1.0175	9	.	.	.	-5.8053	13.4013	0.60885	0.0:0.4622:0.5378:0.0	.	334;464	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	C	464;334;464;201	ENSP00000295824:S464C;ENSP00000342263:S334C;ENSP00000373908:S464C;ENSP00000396778:S201C	.	S	-	2	0	EFHB	19922143	0.974000	0.33945	0.959000	0.39883	0.044000	0.14063	0.878000	0.28126	0.122000	0.18314	0.491000	0.48974	TCT	EFHB	-	NULL		0.368	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	G	NM_144715		19947139	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	0.906	C	C	19947139	G	C	19947139	3	2	143	1	0	0	0	0	1	0	0	0	4955	942	33	1	1142	1	EFHB	3	19947139	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		19947139	178075291	14	23120										
CACNA2D3	55799	genome.wustl.edu	37	chr3	54919573	54919573	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	catctgtctcagttagaagcGattaagctctacctaaaagg	8	9	3	1	rs374818350		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:54919573G>A	ENST00000474759.1	+	23	2064	c.2016G>A	c.(2014-2016)gcG>gcA	p.A672A	CACNA2D3_ENST00000415676.2_Silent_p.A672A|CACNA2D3_ENST00000490478.1_Silent_p.A578A|CACNA2D3_ENST00000288197.5_Silent_p.A672A|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	672						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGTTAGAAGCGATTAAGCTCT	0.468																																																	0								G		4,4130		0,4,2063	112	107	108		2016	-9.3	0.4	3		108	0,8440		0,0,4220	no	coding-synonymous	CACNA2D3	NM_018398.2		0,4,6283	AA,AG,GG		0.0,0.0968,0.0318		672/1092	54919573	4,12570	2067	4220	6287	SO:0001819	synonymous_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2016G>A	3.37:g.54919573G>A			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A672	ENST00000474759.1	37	c.2016	CCDS54598.1	3																																																																																			CACNA2D3	-	NULL		0.468	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	G			54919573	1	no_errors	ENST00000288197	ensembl	human	known	70_37	silent	SNP	0.368	A	A	54919573	G	A	54919573	2	1	143	1	0	0	0	0	0	0	0	1	2555	1045	37	1		1	CACNA2D3	3	54919573	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	34972434	54919573	143102857	15	23121										
PTPRG	5793	genome.wustl.edu	37	chr3	62253428	62253428	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tctacatttgaagatttctgGaggatgatttgggaacaaaa	10	4	2	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:62253428G>A	ENST00000474889.1	+	19	3185	c.2808G>A	c.(2806-2808)tgG>tgA	p.W936*	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.W907*|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	936	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAGATTTCTGGAGGATGATTT	0.388																																																	0													159	151	154					3																	62253428		2203	4300	6503	SO:0001587	stop_gained	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2808G>A	3.37:g.62253428G>A	ENSP00000418112:p.Trp936*		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.W936*	ENST00000474889.1	37	c.2808	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.278596	0.99373	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	.	.	.	X	936;907	.	ENSP00000295874:W907X	W	+	3	0	PTPRG	62228468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.767000	0.95098	0.655000	0.94253	TGG	PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.388	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841		62253428	1	no_errors	ENST00000474889	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	62253428	G	A	62253428	4	1	143	1	0	0	0	0	0	1	0	0	12832	1183	41	1	2882	1	PTPRG	3	62253428	Nonsense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	7333855	62253428	135769002	16	23122										
TNK2	10188	genome.wustl.edu	37	chr3	195610077	195610077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cgtagaggcggatgaggtttCggtggtcgagcgagtgcatg	19	6	0	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:195610077C>T	ENST00000333602.6	-	5	1177	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	TNK2_ENST00000316664.3_Missense_Mutation_p.R187Q|TNK2_ENST00000428187.1_Missense_Mutation_p.R219Q|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Missense_Mutation_p.R250Q|TNK2_ENST00000392400.1_Missense_Mutation_p.R187Q	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GATGAGGTTTCGGTGGTCGAG	0.642																																																	0													98	77	84					3																	195610077		2203	4300	6503	SO:0001583	missense	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.560G>A	3.37:g.195610077C>T	ENSP00000329425:p.Arg187Gln		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R250Q	ENST00000333602.6	37	c.749	CCDS33928.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.438911|1.438911	0.25900|0.25900	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000438207|ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	.|T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.277928	.|0.35615	.|N	.|0.003099	T|T	0.38719|0.38719	0.1051|0.1051	N|N	0.11023|0.11023	0.085|0.085	0.30570|0.30570	N|N	0.763639|0.763639	.|B;B;B;B;B	.|0.31274	.|0.021;0.001;0.317;0.178;0.115	.|B;B;B;B;B	.|0.19148	.|0.001;0.002;0.024;0.004;0.009	T|T	0.40040|0.40040	-0.9584|-0.9584	5|10	.|0.25751	.|T	.|0.34	.|.	12.88|12.88	0.58012|0.58012	0.1628:0.8372:0.0:0.0|0.1628:0.8372:0.0:0.0	.|.	.|187;63;187;250;219	.|Q07912-2;Q59FX1;Q07912;Q07912-3;C9J1X3	.|.;.;ACK1_HUMAN;.;.	K|Q	112|187;250;219;187;187	.|ENSP00000329425:R187Q;ENSP00000371341:R250Q;ENSP00000392546:R219Q;ENSP00000376201:R187Q;ENSP00000323216:R187Q	.|ENSP00000323216:R187Q	E|R	-|-	1|2	0|0	TNK2|TNK2	197094474|197094474	0.957000|0.957000	0.32711|0.32711	0.998000|0.998000	0.56505|0.56505	0.881000|0.881000	0.50899|0.50899	1.458000|1.458000	0.35223|0.35223	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GAA|CGA	TNK2	-	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,pfscan_Prot_kinase_cat_dom		0.642	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	C	NM_005781		195610077	-1	no_errors	ENST00000381916	ensembl	human	known	70_37	missense	SNP	0.976	T	T	195610077	C	T	195610077	3	4	143	1	0	0	0	0	1	0	0	0	16348	884	31	1	2649	1	TNK2	3	195610077	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	133356649	195610077	2412353	17	23123										
ADAD1	132612	genome.wustl.edu	37	chr4	123317530	123317530	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ggctgcttttataattgaaaGaggtaagtccacatatttgg	10	5	0	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr4:123317530G>A	ENST00000296513.2	+	7	907	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ADAD1_ENST00000388725.2_Missense_Mutation_p.R223K|ADAD1_ENST00000388724.2_Missense_Mutation_p.R241K|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	241					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATAATTGAAAGAGGTAAGTCC	0.294																																																	0													43	47	46					4																	123317530		2202	4289	6491	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.722G>A	4.37:g.123317530G>A	ENSP00000296513:p.Arg241Lys		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.R241K	ENST00000296513.2	37	c.722	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792175	0.31685	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.29397	1.6;1.57;1.6	5.9	5.9	0.94986	Adenosine deaminase/editase (1);	0.160594	0.56097	D	0.000021	T	0.19167	0.0460	N	0.24115	0.695	0.29782	N	0.833912	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.12682	-1.0538	10	0.09338	T	0.73	-25.7453	12.3949	0.55378	0.0776:0.0:0.9224:0.0	.	241;241	Q96M93-2;Q96M93	.;ADAD1_HUMAN	K	241;241;241;223	ENSP00000296513:R241K;ENSP00000373376:R241K;ENSP00000373377:R223K	ENSP00000296513:R241K	R	+	2	0	ADAD1	123536980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.715000	0.47210	2.800000	0.96347	0.655000	0.94253	AGA	ADAD1	-	smart_A_deamin		0.294	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	G	NM_139243		123317530	1	no_errors	ENST00000296513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123317530	G	A	123317530	3	1	143	1	0	0	0	0	1	0	0	0	231	942	33	1	740	1	ADAD1	4	123317530	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		123317530	67836746	18	23124										
GAB1	2549	genome.wustl.edu	37	chr4	144359481	144359481	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gcatgtatctattagttatgAcattcctccaacacctggta	6	10	1	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr4:144359481A>T	ENST00000262994.4	+	4	1225	c.923A>T	c.(922-924)gAc>gTc	p.D308V	GAB1_ENST00000262995.4_Missense_Mutation_p.D308V|GAB1_ENST00000505913.1_Missense_Mutation_p.D205V	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	308					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ATTAGTTATGACATTCCTCCA	0.408																																																	0													95	86	89					4																	144359481		2203	4300	6503	SO:0001583	missense	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.923A>T	4.37:g.144359481A>T	ENSP00000262994:p.Asp308Val		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D308V	ENST00000262994.4	37	c.923	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646867	0.87958	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.38560	1.13;1.13;1.13	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.67791	-0.5579	10	0.54805	T	0.06	-7.5569	16.1549	0.81657	1.0:0.0:0.0:0.0	.	308;308	Q13480;Q13480-2	GAB1_HUMAN;.	V	308;308;205	ENSP00000262995:D308V;ENSP00000262994:D308V;ENSP00000424554:D205V	ENSP00000262994:D308V	D	+	2	0	GAB1	144578931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.690000	0.91272	2.209000	0.71365	0.533000	0.62120	GAC	GAB1	-	NULL		0.408	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	A	NM_002039		144359481	1	no_errors	ENST00000262995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144359481	A	T	144359481	3	4	143	1	0	0	0	0	1	0	0	0	6166	275	10	5	937	5	GAB1	4	144359481	Missense_Mutation	SNP	A	TCGA-HM-A3JK-01A-11D-A21Q-09	21041951	144359481	46794795	19	23125										
PTGER4	5734	genome.wustl.edu	37	chr5	40681122	40681122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	actcccggggtcaattcgtcCgcctccttgagccccgaccg	10	18	1	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:40681122C>T	ENST00000302472.3	+	2	1051	c.27C>T	c.(25-27)tcC>tcT	p.S9S	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	9					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCAATTCGTCCGCCTCCTTGA	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	59	58					5																	40681122		2203	4300	6503	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.27C>T	5.37:g.40681122C>T		895	Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S9	ENST00000302472.3	37	c.27	CCDS3930.1	5																																																																																			PTGER4	-	prints_Prost_EP4_rcpt		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681122	1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.065	T	T	40681122	C	T	40681122	2	4	143	1	0	0	0	0	0	0	0	1	12773	639	23	2		2	PTGER4	5	40681122	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09		40681122	140234138	20	23126										
C7	730	genome.wustl.edu	37	chr5	40947853	40947853	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	agtgcctaccgaagattaatCgaccagtacgggacacatta	9	10	0	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:40947853C>T	ENST00000313164.9	+	8	1247	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	296	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAAGATTAATCGACCAGTACG	0.408																																																	0													92	87	88					5																	40947853		1843	4093	5936	SO:0001819	synonymous_variant	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.888C>T	5.37:g.40947853C>T			Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.I296	ENST00000313164.9	37	c.888	CCDS47201.1	5																																																																																			C7	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin		0.408	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	C			40947853	1	no_errors	ENST00000313164	ensembl	human	known	70_37	silent	SNP	0.713	T	T	40947853	C	T	40947853	2	4	143	1	0	0	0	0	0	0	0	1	2380	874	31	1		1	C7	5	40947853	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	266731	40947853	139967407	21	23127										
CAMLG	819	genome.wustl.edu	37	chr5	134076890	134076890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	accagcagggtggtgtggccGaggtaaaggggacccaactg	17	9	0	0	rs143564828		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:134076890G>A	ENST00000297156.2	+	2	430	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	104					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TGGTGTGGCCGAGGTAAAGGG	0.522																																																	0								G	LYS/GLU	0,4406		0,0,2203	82	81	82		310	5	0.3	5	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMLG	NM_001745.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	104/297	134076890	1,13005	2203	4300	6503	SO:0001583	missense	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"calcium-modulating cyclophilin ligand", "calcium-signal modulating cyclophilin ligand", "cyclophilin B-binding protein"	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.310G>A	5.37:g.134076890G>A	ENSP00000297156:p.Glu104Lys		A1L3Y3	Missense_Mutation	SNP	pirsf_Ca_signal-mod_cyclophilin_lig	p.E104K	ENST00000297156.2	37	c.310	CCDS4178.1	5	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537739	0.65085	0.0	1.16E-4	ENSG00000164615	ENST00000297156	T	0.35236	1.32	5.86	4.98	0.66077	.	0.200329	0.51477	D	0.000081	T	0.36635	0.0974	L	0.56769	1.78	0.80722	D	1	P	0.48589	0.912	B	0.38156	0.266	T	0.38693	-0.9649	10	0.62326	D	0.03	-16.6641	16.9346	0.86200	0.0:0.1279:0.8721:0.0	.	104	P49069	CAMLG_HUMAN	K	104	ENSP00000297156:E104K	ENSP00000297156:E104K	E	+	1	0	CAMLG	134104789	1.000000	0.71417	0.269000	0.24586	0.981000	0.71138	5.053000	0.64269	1.444000	0.47605	0.655000	0.94253	GAG	CAMLG	-	pirsf_Ca_signal-mod_cyclophilin_lig		0.522	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMLG	HGNC	protein_coding	OTTHUMT00000251161.1	G	NM_001745		134076890	1	no_errors	ENST00000297156	ensembl	human	known	70_37	missense	SNP	0.721	A	A	134076890	G	A	134076890	3	1	143	1	0	0	0	0	1	0	0	0	2614	1059	37	1	316	1	CAMLG	5	134076890	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	93129037	134076890	46838370	22	23128										
PCDHB11	56125	genome.wustl.edu	37	chr5	140580689	140580689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tctctgacgtcaatgacaacGcccccaccttcacccaaacc	4	19	3	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:140580689G>A	ENST00000354757.3	+	1	1342	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A83T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCACCTT	0.567																																																	0													147	131	137					5																	140580689		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1342G>A	5.37:g.140580689G>A	ENSP00000346802:p.Ala448Thr		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A448T	ENST00000354757.3	37	c.1342	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961618	0.53400	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.03181	4.02;4.02	2.52	-2.58	0.06228	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.07098	0.0180	M	0.85945	2.785	0.25190	N	0.990133	B	0.20988	0.05	B	0.22753	0.041	T	0.27571	-1.0070	9	0.56958	D	0.05	.	7.8313	0.29344	0.0:0.3274:0.4202:0.2524	.	448	Q9Y5F2	PCDBB_HUMAN	T	83;448	ENSP00000440344:A83T;ENSP00000346802:A448T	ENSP00000346802:A448T	A	+	1	0	PCDHB11	140560873	0.000000	0.05858	0.719000	0.30619	0.011000	0.07611	-0.570000	0.05895	-0.348000	0.08286	-2.633000	0.00153	GCC	PCDHB11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140580689	1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.467	A	A	140580689	G	A	140580689	3	1	143	1	0	0	0	0	1	0	0	0	11560	1087	38	2	1344	2	PCDHB11	5	140580689	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	6503799	140580689	40334571	23	23129										
MRPL22	29093	genome.wustl.edu	37	chr5	154330430	154330430	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gtgcttctcttgacatttctCgaaaatgggagaagaagaat	10	6	2	4			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:154330430C>T	ENST00000523037.1	+	3	168	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69*|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	43					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACATTTCTCGAAAATGGGA	0.393																																																	0													115	112	113					5																	154330430		2203	4300	6503	SO:0001587	stop_gained	29093			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.127C>T	5.37:g.154330430C>T	ENSP00000431040:p.Arg43*		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Nonsense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.R43*	ENST00000523037.1	37	c.127	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775282	0.70107	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	.	.	.	4.9	-0.777	0.10981	.	0.334305	0.31031	N	0.008388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2585	3.4261	0.07412	0.2748:0.2332:0.404:0.088	.	.	.	.	X	43;69;49	.	ENSP00000411177:R69X	R	+	1	2	MRPL22	154310623	0.811000	0.29063	0.989000	0.46669	0.951000	0.60555	0.787000	0.26858	0.128000	0.18479	0.591000	0.81541	CGA	MRPL22	-	NULL		0.393	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	C			154330430	1	no_errors	ENST00000523037	ensembl	human	known	70_37	nonsense	SNP	0.035	T	T	154330430	C	T	154330430	4	4	143	1	0	0	0	0	0	1	0	0	9811	876	31	1	137	1	MRPL22	5	154330430	Nonsense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	13749741	154330430	26584830	24	23130										
TFAP2B	7021	genome.wustl.edu	37	chr6	50803940	50803940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gtgggagaagttcagagacgGctgtcgccccctgaatgcct	14	11	1	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:50803940G>T	ENST00000393655.3	+	4	937	c.768G>T	c.(766-768)cgG>cgT	p.R256R	TFAP2B_ENST00000263046.4_Silent_p.R265R	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	256					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTCAGAGACGGCTGTCGCCCC	0.493																																					Pancreas(116;1373 2332 5475 10752)												0													56	53	54					6																	50803940		2203	4300	6503	SO:0001819	synonymous_variant	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.768G>T	6.37:g.50803940G>T			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.R265	ENST00000393655.3	37	c.795	CCDS4934.2	6																																																																																			TFAP2B	-	pfam_TF_AP2_C		0.493	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	G	NM_003221		50803940	1	no_errors	ENST00000263046	ensembl	human	known	70_37	silent	SNP	0.935	T	T	50803940	G	T	50803940	2	4	143	1	0	0	0	0	0	0	0	1	15818	1190	42	4		4	TFAP2B	6	50803940	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		50803940	120311127	25	23131										
TINAG	27283	genome.wustl.edu	37	chr6	54214628	54214628	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cggcatgccacgaagccatgTcccaacaacgtagaaaaatc	8	13	0	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:54214628T>A	ENST00000259782.4	+	7	1110	c.1014T>A	c.(1012-1014)tgT>tgA	p.C338*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	338					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CGAAGCCATGTCCCAACAACG	0.443																																																	0													146	135	139					6																	54214628		2203	4300	6503	SO:0001587	stop_gained	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1014T>A	6.37:g.54214628T>A	ENSP00000259782:p.Cys338*		Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.C338*	ENST00000259782.4	37	c.1014	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	T	41	8.722599	0.98929	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.87	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5922	0.28027	0.0:0.3624:0.0:0.6376	.	.	.	.	X	197;338;17	.	ENSP00000259782:C338X	C	+	3	2	TINAG	54322587	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	-0.006000	0.12833	0.139000	0.18822	0.482000	0.46254	TGT	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.443	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	T	NM_014464		54214628	1	no_errors	ENST00000259782	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	54214628	T	A	54214628	4	1	143	1	0	0	0	0	0	1	0	0	15951	1673	58	5	1040	5	TINAG	6	54214628	Nonsense_Mutation	SNP	T	TCGA-HM-A3JK-01A-11D-A21Q-09	3410688	54214628	116900439	26	23132										
IMPG1	3617	genome.wustl.edu	37	chr6	76712654	76712654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ccaggtagaccatgctctgcTccgtccactgtctcaagctg	9	15	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:76712654T>C	ENST00000369950.3	-	12	1461	c.1272A>G	c.(1270-1272)ggA>ggG	p.G424G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CATGCTCTGCTCCGTCCACTG	0.443																																					Pancreas(37;839 1141 2599 26037)												0													129	111	117					6																	76712654		2203	4300	6503	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1272A>G	6.37:g.76712654T>C				Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.G424	ENST00000369950.3	37	c.1272	CCDS4985.1	6																																																																																			IMPG1	-	NULL		0.443	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	T	NM_001563		76712654	-1	no_errors	ENST00000369950	ensembl	human	known	70_37	silent	SNP	0.000	C	C	76712654	T	C	76712654	2	2	143	1	0	0	0	0	0	0	0	1	7748	1538	54	5		5	IMPG1	6	76712654	Silent	SNP	T	TCGA-HM-A3JK-01A-11D-A21Q-09	22498026	76712654	94402413	27	23133										
PTPRK	5796	genome.wustl.edu	37	chr6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tagaactcggatctcatattCggtatctggatctaaatgcc	8	9	3	1	rs369678964		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:128505667C>T	ENST00000368215.3	-	7	1071	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	170	155	160		1072,1072	5.5	1	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/1447,358/1441	128505667	1,13005	2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1072G>A	6.37:g.128505667C>T	ENSP00000357198:p.Glu358Lys		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E358K	ENST00000368215.3	37	c.1072		6	.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	PTPRK	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA	PTPRK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128505667	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	0.999	T	T	128505667	C	T	128505667	3	4	143	1	0	0	0	0	1	0	0	0	12835	893	31	1	3368	1	PTPRK	6	128505667	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	51793013	128505667	42609400	28	23134										
OSBPL3	26031	genome.wustl.edu	37	chr7	24874252	24874252	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	aggtccttcccgatgttgttCctcaggatgttccacaggct	10	12	1	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr7:24874252C>T	ENST00000313367.2	-	15	2050	c.1599G>A	c.(1597-1599)agG>agA	p.R533R	OSBPL3_ENST00000396429.1_Silent_p.R497R|OSBPL3_ENST00000409069.1_Silent_p.R466R|OSBPL3_ENST00000353930.1_Silent_p.R497R|OSBPL3_ENST00000431825.2_Silent_p.R466R|OSBPL3_ENST00000396431.1_Silent_p.R502R|OSBPL3_ENST00000352860.1_Silent_p.R502R	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	533					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CGATGTTGTTCCTCAGGATGT	0.617																																																	0													117	99	105					7																	24874252		2203	4300	6503	SO:0001819	synonymous_variant	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1599G>A	7.37:g.24874252C>T			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R533	ENST00000313367.2	37	c.1599	CCDS5390.1	7																																																																																			OSBPL3	-	pfam_Oxysterol-bd		0.617	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	C			24874252	-1	no_errors	ENST00000313367	ensembl	human	known	70_37	silent	SNP	0.448	T	T	24874252	C	T	24874252	2	4	143	1	0	0	0	0	0	0	0	1	11303	854	30	1		1	OSBPL3	7	24874252	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09		24874252	134264411	29	23135										
ZC3H3	23144	genome.wustl.edu	37	chr8	144557574	144557574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ccctcacctctcacctgtgcGcaggaggggcctgctgcccg	12	18	2	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr8:144557574G>A	ENST00000262577.5	-	5	1928	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	633					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCACCTGTGCGCAGGAGGGGC	0.647																																																	0													37	39	38					8																	144557574		2202	4300	6502	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1897C>T	8.37:g.144557574G>A	ENSP00000262577:p.Arg633Cys		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R633C	ENST00000262577.5	37	c.1897	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688378	0.29962	.	.	ENSG00000014164	ENST00000262577	T	0.03330	3.97	4.97	2.94	0.34122	.	0.186406	0.32952	N	0.005445	T	0.11537	0.0281	M	0.64997	1.995	0.28358	N	0.920592	D	0.89917	1.0	D	0.70016	0.967	T	0.01604	-1.1314	10	0.87932	D	0	-10.8687	6.5029	0.22178	0.0:0.1434:0.5381:0.3185	.	633	Q8IXZ2	ZC3H3_HUMAN	C	633	ENSP00000262577:R633C	ENSP00000262577:R633C	R	-	1	0	ZC3H3	144628717	0.155000	0.22806	0.076000	0.20297	0.027000	0.11550	1.521000	0.35910	1.068000	0.40764	0.655000	0.94253	CGC	ZC3H3	-	NULL		0.647	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	G	NM_015117		144557574	-1	no_errors	ENST00000262577	ensembl	human	known	70_37	missense	SNP	0.144	A	A	144557574	G	A	144557574	3	1	143	1	0	0	0	0	1	0	0	0	17599	1087	38	2	981	2	ZC3H3	8	144557574	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		144557574	1806448	30	23136										
ZNF250	58500	genome.wustl.edu	37	chr8	146107571	146107571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	acactcattgcacctgtgagGcttctccccagtgtgtaccc	8	15	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr8:146107571G>T	ENST00000292579.7	-	6	1128	c.1012C>A	c.(1012-1014)Cct>Act	p.P338T	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.P333T|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CACCTGTGAGGCTTCTCCCCA	0.567																																					NSCLC(16;520 556 24096 40084 43446)												0													87	61	70					8																	146107571		2203	4300	6503	SO:0001583	missense	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1012C>A	8.37:g.146107571G>T	ENSP00000292579:p.Pro338Thr		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P338T	ENST00000292579.7	37	c.1012	CCDS34972.1	8	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873716	0.72180	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.28895	1.59;1.59	3.94	3.94	0.45596	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000176	T	0.57417	0.2052	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63220	-0.6686	10	0.56958	D	0.05	-21.379	15.944	0.79779	0.0:0.0:1.0:0.0	.	333;338	D3DWP1;P15622	.;ZN250_HUMAN	T	338;333;333	ENSP00000292579:P338T;ENSP00000393442:P333T	ENSP00000292579:P338T	P	-	1	0	ZNF250	146078375	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	5.606000	0.67641	2.511000	0.84671	0.313000	0.20887	CCT	ZNF250	-	pfscan_Znf_C2H2		0.567	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	G	NM_021061		146107571	-1	no_errors	ENST00000292579	ensembl	human	known	70_37	missense	SNP	1.000	T	T	146107571	G	T	146107571	3	4	143	1	0	0	0	0	1	0	0	0	17825	1203	42	4	674	4	ZNF250	8	146107571	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	1549997	146107571	256451	31	23137										
SMARCA2	6595	genome.wustl.edu	37	chr9	2086856	2086856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ggaaatacatgatagtggacGaaggccaccgaatgaagaat	12	6	0	3	rs281875199		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:2086856G>A	ENST00000382203.1	+	18	2763	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E852K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E852K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E852K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	852	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		E -> D (in NCBRS; dbSNP:rs281875193). {ECO:0000269|PubMed:22366787}.|E -> K (in NCBRS; dbSNP:rs281875199). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATAGTGGACGAAGGCCACCG	0.488																																																	0													86	80	82					9																	2086856		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2554G>A	9.37:g.2086856G>A	ENSP00000371638:p.Glu852Lys		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E852K	ENST00000382203.1	37	c.2554	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.281442	0.95489	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36	5.8	5.8	0.92144	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99668	4.69	0.80722	D	1	D;P;P	0.89917	1.0;0.761;0.799	D;B;B	0.97110	1.0;0.197;0.298	D	0.96202	0.9146	10	0.87932	D	0	-17.4213	20.0637	0.97700	0.0:0.0:1.0:0.0	.	453;852;852	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	K	852	ENSP00000265773:E852K;ENSP00000349788:E852K;ENSP00000371638:E852K;ENSP00000371629:E852K	ENSP00000265773:E852K	E	+	1	0	SMARCA2	2076856	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.798000	0.99111	2.751000	0.94390	0.650000	0.86243	GAA	SMARCA2	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.488	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2086856	1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2086856	G	A	2086856	3	1	143	1	0	0	0	0	1	0	0	0	14799	1059	37	1	2620	1	SMARCA2	9	2086856	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		2086856	139126575	32	23138										
MPDZ	8777	genome.wustl.edu	37	chr9	13176163	13176163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctgaatcgggtagcacagaaGgaagttctgcacttgatata	11	7	1	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:13176163G>A	ENST00000319217.7	-	20	3150	c.2903C>T	c.(2902-2904)cCt>cTt	p.P968L	MPDZ_ENST00000536827.1_Missense_Mutation_p.P968L|MPDZ_ENST00000541718.1_Missense_Mutation_p.P968L|MPDZ_ENST00000381022.2_Missense_Mutation_p.P968L|MPDZ_ENST00000546205.1_Missense_Mutation_p.P968L|MPDZ_ENST00000381015.4_Missense_Mutation_p.P968L|MPDZ_ENST00000447879.1_Missense_Mutation_p.P968L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	968					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGCACAGAAGGAAGTTCTGC	0.353																																																	0													99	81	87					9																	13176163		1853	4091	5944	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2903C>T	9.37:g.13176163G>A	ENSP00000320006:p.Pro968Leu		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.P968L	ENST00000319217.7	37	c.2903		9	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253809	0.22965	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10288	2.94;2.89;2.89;2.89;2.94;2.94;2.94	5.91	4.08	0.47627	.	0.869093	0.09712	N	0.765519	T	0.06142	0.0159	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.18013	0.025;0.0;0.0	B;B;B	0.13407	0.009;0.0;0.001	T	0.43245	-0.9403	10	0.23302	T	0.38	.	9.3055	0.37872	0.0781:0.3368:0.5851:0.0	.	968;968;968	B7ZMI4;O75970-3;O75970-2	.;.;.	L	968;968;968;968;968;968;918;968	ENSP00000320006:P968L;ENSP00000439807:P968L;ENSP00000370410:P968L;ENSP00000444151:P968L;ENSP00000415208:P968L;ENSP00000370403:P968L;ENSP00000446358:P968L	ENSP00000320006:P968L	P	-	2	0	MPDZ	13166163	0.067000	0.21026	0.032000	0.17829	0.591000	0.36615	0.824000	0.27379	0.834000	0.34852	0.655000	0.94253	CCT	MPDZ	-	NULL		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13176163	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	0.015	A	A	13176163	G	A	13176163	3	1	143	1	0	0	0	0	1	0	0	0	9745	1000	35	4	3330	4	MPDZ	9	13176163	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	11089307	13176163	128037268	33	23139										
COL15A1	1306	genome.wustl.edu	37	chr9	101812136	101812136	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cttgttctcattacccacagGccattttcccaatacccgtc	4	16	1	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:101812136G>A	ENST00000375001.3	+	30	3286	c.2863G>A	c.(2863-2865)Gcc>Acc	p.A955T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	955	Nonhelical region 6 (NC6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTACCCACAGGCCATTTTCCC	0.502																																																	0													255	209	224					9																	101812136		2203	4300	6503	SO:0001630	splice_region_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2863-1G>A	9.37:g.101812136G>A			Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.A955T	ENST00000375001.3	37	c.2863	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946437	0.18356	.	.	ENSG00000204291	ENST00000375001	T	0.32272	1.46	6.06	2.9	0.33743	C-type lectin fold (1);	0.453258	0.24174	N	0.040872	T	0.18800	0.0451	L	0.33245	0.995	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.06250	-1.0837	9	.	.	.	-7.9048	5.6533	0.17629	0.3594:0.0:0.6406:0.0	.	955	P39059	COFA1_HUMAN	T	955	ENSP00000364140:A955T	.	A	+	1	0	COL15A1	100851957	1.000000	0.71417	0.904000	0.35570	0.088000	0.18126	2.478000	0.45189	0.899000	0.36444	0.655000	0.94253	GCC	COL15A1	-	superfamily_C-type_lectin_fold		0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855	Missense_Mutation	101812136	1	no_errors	ENST00000375001	ensembl	human	known	70_37	missense	SNP	0.984	A	A	101812136	G	A	101812136	5	1	143	1	0	0	0	0	0	0	1	0	3677	1217	42	4	2981	4	COL15A1	9	101812136	Splice_Site	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	88635973	101812136	39401295	34	23140										
ABI1	10006	genome.wustl.edu	37	chr10	27112160	27112160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ttgttggccaatgcatttatTtgataagcaacactagctag	8	7	0	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr10:27112160T>C	ENST00000376142.2	-	2	263	c.192A>G	c.(190-192)caA>caG	p.Q64Q	ABI1_ENST00000376160.1_Silent_p.Q64Q|ABI1_ENST00000376170.4_Silent_p.Q64Q|ABI1_ENST00000376137.4_Silent_p.Q64Q|ABI1_ENST00000346832.5_Silent_p.Q81Q|ABI1_ENST00000376166.1_Silent_p.Q64Q|ABI1_ENST00000376134.3_Silent_p.Q64Q|ABI1_ENST00000490841.2_Silent_p.Q64Q|ABI1_ENST00000376139.2_Silent_p.Q64Q|ABI1_ENST00000376140.3_Silent_p.Q64Q|ABI1_ENST00000376138.3_Silent_p.Q64Q|ABI1_ENST00000355394.4_Silent_p.Q64Q|ABI1_ENST00000536334.1_Silent_p.Q64Q|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000359188.4_Silent_p.Q64Q	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	64	Required for binding to WASF1. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGCATTTATTTGATAAGCAA	0.403																																																	0													134	123	127					10																	27112160		2203	4300	6503	SO:0001819	synonymous_variant	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.192A>G	10.37:g.27112160T>C			A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Silent	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.Q64	ENST00000376142.2	37	c.192	CCDS7150.1	10																																																																																			ABI1	-	pfscan_T_SNARE_dom		0.403	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	T	NM_005470		27112160	-1	no_errors	ENST00000355394	ensembl	human	known	70_37	silent	SNP	1.000	C	C	27112160	T	C	27112160	2	2	143	1	0	0	0	0	0	0	0	1	88	1838	64	5		5	ABI1	10	27112160	Silent	SNP	T	TCGA-HM-A3JK-01A-11D-A21Q-09		27112160	108422587	35	23141										
NLRP6	171389	genome.wustl.edu	37	chr11	284302	284302	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctgagggcagcccccgcactGacggagctgggcctcctcca	13	17	0	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:284302G>A	ENST00000312165.5	+	6	2274	c.2274G>A	c.(2272-2274)ctG>ctA	p.L758L	NLRP6_ENST00000534750.1_Silent_p.L757L	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	758					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCCCGCACTGACGGAGCTGG	0.637																																																	0													42	43	42					11																	284302		2203	4300	6503	SO:0001819	synonymous_variant	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2274G>A	11.37:g.284302G>A			A8K9F3|E9PJZ8	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L758	ENST00000312165.5	37	c.2274	CCDS7693.1	11																																																																																			NLRP6	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.637	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		284302	1	no_errors	ENST00000312165	ensembl	human	known	70_37	silent	SNP	0.691	A	A	284302	G	A	284302	2	1	143	1	0	0	0	0	0	0	0	1	10505	1277	45	1		1	NLRP6	11	284302	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		284302	134722214	36	23142										
B4GALNT4	338707	genome.wustl.edu	37	chr11	373229	373229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tggcctcagacgacaactcgGagttctggctgagtctggac	13	11	3	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:373229G>A	ENST00000329962.6	+	6	574	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	192					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACAACTCGGAGTTCTGGCT	0.662																																																	0													61	60	60					11																	373229		2199	4294	6493	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.574G>A	11.37:g.373229G>A	ENSP00000328277:p.Glu192Lys		Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.E192K	ENST00000329962.6	37	c.574	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	g	20.6	4.019864	0.75275	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.35	4.35	0.52113	PA14 (2);	0.240217	0.33670	N	0.004666	T	0.51924	0.1703	M	0.85197	2.74	0.48395	D	0.999644	D	0.76494	0.999	D	0.87578	0.998	T	0.61758	-0.6997	10	0.62326	D	0.03	-17.2188	17.4028	0.87465	0.0:0.0:1.0:0.0	.	192	Q76KP1	B4GN4_HUMAN	K	192	ENSP00000328277:E192K	ENSP00000328277:E192K	E	+	1	0	B4GALNT4	363229	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.953000	0.70290	2.164000	0.68074	0.472000	0.43445	GAG	B4GALNT4	-	pfam_PA14,smart_PA14		0.662	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	G	NM_178537		373229	1	no_errors	ENST00000329962	ensembl	human	known	70_37	missense	SNP	1.000	A	A	373229	G	A	373229	3	1	143	1	0	0	0	0	1	0	0	0	1270	1175	41	1	596	1	B4GALNT4	11	373229	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	88927	373229	134633287	37	23143										
DCHS1	8642	genome.wustl.edu	37	chr11	6653796	6653796	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctgtaccaccacccgtagtcGaaagtggctggtgcgtggtg	14	11	0	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:6653796G>A	ENST00000299441.3	-	6	3358	c.2947C>T	c.(2947-2949)Cga>Tga	p.R983*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	983	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCGTAGTCGAAAGTGGCTG	0.662																																																	0													9	9	9					11																	6653796		2191	4280	6471	SO:0001587	stop_gained	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2947C>T	11.37:g.6653796G>A	ENSP00000299441:p.Arg983*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R983*	ENST00000299441.3	37	c.2947	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	43	9.905982	0.99293	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.84	4.84	0.62591	.	0.209202	0.24301	N	0.039738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	12.558	0.56265	0.0:0.0:0.8339:0.1661	.	.	.	.	X	983	.	ENSP00000299441:R983X	R	-	1	2	DCHS1	6610372	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	3.408000	0.52651	2.676000	0.91093	0.561000	0.74099	CGA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6653796	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	nonsense	SNP	0.988	A	A	6653796	G	A	6653796	4	1	143	1	0	0	0	0	0	1	0	0	4292	1066	37	1	7013	1	DCHS1	11	6653796	Nonsense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	6280567	6653796	128352720	38	23144										
OR5P2	120065	genome.wustl.edu	37	chr11	7818375	7818375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gataagaataattatgctgaGattaccagataggatgatca	9	4	1	4			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:7818375G>A	ENST00000329434.2	-	1	145	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTATGCTGAGATTACCAGAT	0.433																																																	0													59	73	68					11																	7818375		2102	4292	6394	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.115C>T	11.37:g.7818375G>A	ENSP00000331823:p.Leu39Phe		Q3MIS8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L39F	ENST00000329434.2	37	c.115	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	G	6.575	0.474445	0.12521	.	.	ENSG00000183303	ENST00000329434	T	0.00438	7.42	5.5	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.222169	0.32287	N	0.006319	T	0.00440	0.0014	M	0.68593	2.085	0.30706	N	0.749803	B	0.28082	0.2	B	0.30782	0.12	T	0.07654	-1.0761	10	0.66056	D	0.02	-67.6348	8.9021	0.35501	0.0785:0.0:0.7733:0.1482	.	39	Q8WZ92	OR5P2_HUMAN	F	39	ENSP00000331823:L39F	ENSP00000331823:L39F	L	-	1	0	OR5P2	7774951	0.000000	0.05858	0.837000	0.33122	0.025000	0.11179	-0.396000	0.07278	0.847000	0.35167	0.555000	0.69702	CTC	OR5P2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	G	NM_153444		7818375	-1	no_errors	ENST00000329434	ensembl	human	known	70_37	missense	SNP	0.824	A	A	7818375	G	A	7818375	3	1	143	1	0	0	0	0	1	0	0	0	11202	942	33	1	857	1	OR5P2	11	7818375	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	1164579	7818375	127188141	39	23145										
PIK3C2A	5286	genome.wustl.edu	37	chr11	17118705	17118705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tgttttaggtgaaaatgaaaGgatgggctcatcattagaag	12	3	2	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:17118705G>A	ENST00000265970.7	-	26	4224	c.4225C>T	c.(4225-4227)Ctt>Ttt	p.L1409F	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1029F|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1409					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GAAAATGAAAGGATGGGCTCA	0.363																																																	0													120	116	117					11																	17118705		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4225C>T	11.37:g.17118705G>A	ENSP00000265970:p.Leu1409Phe		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L1409F	ENST00000265970.7	37	c.4225	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.084440	0.94100	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.71341	-0.56;0.01	6.07	6.07	0.98685	.	0.058049	0.64402	D	0.000001	D	0.85106	0.5621	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.83956	0.0319	10	0.52906	T	0.07	-17.0414	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1409	O00443	P3C2A_HUMAN	F	1409;1029	ENSP00000265970:L1409F;ENSP00000438687:L1029F	ENSP00000265970:L1409F	L	-	1	0	PIK3C2A	17075281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.878000	0.87231	2.885000	0.99019	0.655000	0.94253	CTT	PIK3C2A	-	NULL		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17118705	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17118705	G	A	17118705	3	1	143	1	0	0	0	0	1	0	0	0	11933	1000	35	4	863	4	PIK3C2A	11	17118705	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	9300330	17118705	117887811	40	23146										
SPRYD5	84767	genome.wustl.edu	37	chr11	55653082	55653082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctgaatgcaagaagacaacgCggcagagaaacctcaacact	9	11	1	4			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:55653082C>T	ENST00000449290.2	+	2	270	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	60						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GAAGACAACGCGGCAGAGAAA	0.498																																																	0													43	36	38					11																	55653082		692	1591	2283	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.178C>T	11.37:g.55653082C>T	ENSP00000395086:p.Arg60Trp		A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R60W	ENST00000449290.2	37	c.178		11	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212288	0.06140	.	.	ENSG00000124900	ENST00000449290	D	0.84298	-1.83	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.65080	0.2657	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.51679	-0.8675	9	0.45353	T	0.12	.	2.6838	0.05102	0.3103:0.3788:0.3109:0.0	.	60	Q9BSJ1	SPRY5_HUMAN	W	60	ENSP00000395086:R60W	ENSP00000395086:R60W	R	+	1	2	SPRYD5	55409658	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.145000	0.16157	-0.235000	0.09767	0.152000	0.16155	CGG	TRIM51	-	NULL		0.498	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	C	NM_032681		55653082	1	no_errors	ENST00000449290	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55653082	C	T	55653082	3	4	143	1	0	0	0	0	1	0	0	0	15141	759	27	2	180	2	SPRYD5	11	55653082	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	38534377	55653082	79353434	41	23147										
LRP5	4041	genome.wustl.edu	37	chr11	68190979	68190979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctttgttttgacctctctgaGccaaggccaaaacccagaca	7	13	1	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:68190979G>A	ENST00000294304.7	+	14	3156	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTCTCTGAGCCAAGGCCAA	0.592																																																	0													111	108	109					11																	68190979		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3050G>A	11.37:g.68190979G>A	ENSP00000294304:p.Ser1017Asn		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S1017N	ENST00000294304.7	37	c.3050	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	7.179	0.589211	0.13812	.	.	ENSG00000162337	ENST00000294304	D	0.91237	-2.81	4.03	3.1	0.35709	Six-bladed beta-propeller, TolB-like (1);	0.252624	0.26106	U	0.026301	T	0.70430	0.3223	N	0.01686	-0.76	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.57021	-0.7882	10	0.23302	T	0.38	.	3.7746	0.08654	0.355:0.0:0.645:0.0	.	1017;1017	Q9UES7;O75197	.;LRP5_HUMAN	N	1017	ENSP00000294304:S1017N	ENSP00000294304:S1017N	S	+	2	0	LRP5	67947555	0.462000	0.25791	0.147000	0.22382	0.899000	0.52679	2.704000	0.47118	2.260000	0.74910	0.485000	0.47835	AGC	LRP5	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68190979	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.184	A	A	68190979	G	A	68190979	3	1	143	1	0	0	0	0	1	0	0	0	8983	971	34	4	3104	4	LRP5	11	68190979	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	12537897	68190979	66815537	42	23148										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103092859	103092859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ttgaagaacttctttttaaaAataaaggctcttttgatcca	5	6	2	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:103092859A>G	ENST00000375735.2	+	58	9352	c.9208A>G	c.(9208-9210)Aat>Gat	p.N3070D	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N3070D|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3070	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTAAAAATAAAGGCTC	0.299																																																	0													30	30	30					11																	103092859		1785	4043	5828	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9208A>G	11.37:g.103092859A>G	ENSP00000364887:p.Asn3070Asp		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3070D	ENST00000375735.2	37	c.9208	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336604	0.41398	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74526	-0.85;-0.85	5.86	4.72	0.59763	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.71581	2.175	0.58432	D	0.999994	P;P	0.41188	0.741;0.696	P;P	0.48141	0.568;0.535	T	0.73269	-0.4036	10	0.19590	T	0.45	.	12.5726	0.56344	0.8608:0.1392:0.0:0.0	.	3070;3070	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	3070	ENSP00000364887:N3070D;ENSP00000381167:N3070D	ENSP00000364887:N3070D	N	+	1	0	DYNC2H1	102598069	1.000000	0.71417	0.998000	0.56505	0.274000	0.26718	8.830000	0.92063	1.131000	0.42111	-0.321000	0.08615	AAT	DYNC2H1	-	NULL		0.299	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	A	XM_370652		103092859	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103092859	A	G	103092859	3	3	143	1	0	0	0	0	1	0	0	0	4856	14	1	5	9438	5	DYNC2H1	11	103092859	Missense_Mutation	SNP	A	TCGA-HM-A3JK-01A-11D-A21Q-09	34901880	103092859	31913657	43	23149										
STAT2	6773	genome.wustl.edu	37	chr12	56737713	56737713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gctctggcactgtttgtgatAccatgcatagtgtgggctct	12	9	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr12:56737713A>G	ENST00000314128.4	-	23	2332	c.2309T>C	c.(2308-2310)gTa>gCa	p.V770A	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.V766A			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	770					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGTTTGTGATACCATGCATAG	0.542																																																	0													167	147	154					12																	56737713		2203	4300	6503	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2309T>C	12.37:g.56737713A>G	ENSP00000315768:p.Val770Ala		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V770A	ENST00000314128.4	37	c.2309	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	A	4.283	0.051746	0.08291	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.85013	-1.92;-1.93	3.34	-0.73	0.11154	.	.	.	.	.	T	0.72938	0.3523	L	0.60455	1.87	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.55101	-0.8193	9	0.02654	T	1	1.3404	0.7071	0.00918	0.4662:0.2096:0.121:0.2031	.	766;770	G3V2M6;P52630	.;STAT2_HUMAN	A	770;766	ENSP00000315768:V770A;ENSP00000450751:V766A	ENSP00000315768:V770A	V	-	2	0	STAT2	55023980	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.624000	0.02038	-0.134000	0.11516	-0.441000	0.05720	GTA	STAT2	-	NULL		0.542	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	A	NM_005419		56737713	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56737713	A	G	56737713	3	3	143	1	0	0	0	0	1	0	0	0	15295	391	14	5	254	5	STAT2	12	56737713	Missense_Mutation	SNP	A	TCGA-HM-A3JK-01A-11D-A21Q-09		56737713	77114182	44	23150										
FAM70B	348013	genome.wustl.edu	37	chr13	114498154	114498154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tcgtgtttatcagttttggcGtggtggccgccttctgctgc	13	10	2	0	rs150323609	byFrequency	TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr13:114498154G>A	ENST00000375353.3	+	4	313	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	96						integral component of membrane (GO:0016021)											CAGTTTTGGCGTGGTGGCCGC	0.542																																																	0													117	94	101					13																	114498154		2203	4300	6503	SO:0001583	missense	348013			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.286G>A	13.37:g.114498154G>A	ENSP00000364502:p.Val96Met			Missense_Mutation	SNP	NULL	p.V96M	ENST00000375353.3	37	c.286	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754890	0.49362	.	.	ENSG00000184497	ENST00000375353;ENST00000375348	T;T	0.58652	0.32;0.32	4.06	4.06	0.47325	.	.	.	.	.	T	0.74846	0.3770	M	0.76838	2.35	0.58432	D	0.999995	D	0.89917	1.0	D	0.68483	0.958	T	0.79933	-0.1594	9	0.87932	D	0	-18.814	15.0297	0.71696	0.0:0.0:1.0:0.0	.	96	Q8WV15	FA70B_HUMAN	M	96;104	ENSP00000364502:V96M;ENSP00000364497:V104M	ENSP00000364497:V104M	V	+	1	0	FAM70B	113615789	1.000000	0.71417	0.968000	0.41197	0.190000	0.23558	5.129000	0.64739	1.806000	0.52798	0.394000	0.25966	GTG	FAM70B	-	NULL		0.542	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM70B	HGNC	protein_coding	OTTHUMT00000045953.4	G	NM_182614		114498154	1	no_errors	ENST00000375353	ensembl	human	known	70_37	missense	SNP	0.997	A	A	114498154	G	A	114498154	3	1	143	1	0	0	0	0	1	0	0	0	5624	1145	40	2	300	2	FAM70B	13	114498154	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		114498154	671724	45	23151										
MPP5	64398	genome.wustl.edu	37	chr14	67770295	67770295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cccagtcaacagatcaagccGcctcctgccaaggaaacagt	8	15	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr14:67770295G>A	ENST00000261681.4	+	8	1681	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	MPP5_ENST00000555925.1_Silent_p.P306P	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	340					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGATCAAGCCGCCTCCTGCCA	0.338																																																	0													103	107	106					14																	67770295		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1020G>A	14.37:g.67770295G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.P340	ENST00000261681.4	37	c.1020	CCDS9779.1	14																																																																																			MPP5	-	superfamily_SH3_domain,superfamily_PDZ		0.338	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67770295	1	no_errors	ENST00000261681	ensembl	human	known	70_37	silent	SNP	0.893	A	A	67770295	G	A	67770295	2	1	143	1	0	0	0	0	0	0	0	1	9760	1074	38	2		2	MPP5	14	67770295	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		67770295	39579245	46	23152										
GOLGA6A	342096	genome.wustl.edu	37	chr15	74363798	74363798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gccccctggctttcatatacGgtgaaggactctcctgtgag	11	12	2	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr15:74363798G>A	ENST00000290438.3	-	16	1750	c.1710C>T	c.(1708-1710)acC>acT	p.T570T	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	570						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTTCATATACGGTGAAGGACT	0.627																																																	0													1	1	1					15																	74363798		115	284	399	SO:0001819	synonymous_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1710C>T	15.37:g.74363798G>A			A8K959|Q9NYA7	Silent	SNP	NULL	p.T570	ENST00000290438.3	37	c.1710	CCDS32290.1	15																																																																																			GOLGA6A	-	NULL		0.627	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6A	HGNC	protein_coding	OTTHUMT00000421835.1	G	XM_292357		74363798	-1	no_errors	ENST00000290438	ensembl	human	known	70_37	silent	SNP	0.990	A	A	74363798	G	A	74363798	2	1	143	1	0	0	0	0	0	0	0	1	6576	1103	39	2		2	GOLGA6A	15	74363798	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		74363798	28167594	47	23153										
BBS2	583	genome.wustl.edu	37	chr16	56536701	56536701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	taaagatgacctccccagttCggtcacttcgagcatcaacc	7	14	2	2	rs150572808		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr16:56536701C>T	ENST00000245157.5	-	8	1244	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.R275Q	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	275					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R275Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTCCCCAGTTCGGTCACTTCG	0.373									Bardet-Biedl syndrome																																								1	Substitution - Missense(1)	large_intestine(1)						C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	64	61	62		824	5.9	1	16	dbSNP_134	62	0,8600		0,0,4300	no	missense	BBS2	NM_031885.3	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	275/722	56536701	1,12995	2198	4300	6498	SO:0001583	missense	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.824G>A	16.37:g.56536701C>T	ENSP00000245157:p.Arg275Gln		Q96CM0|Q96SN9	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.R275Q	ENST00000245157.5	37	c.824	CCDS32451.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.241004	0.95272	2.27E-4	0.0	ENSG00000125124	ENST00000245157	T	0.66099	-0.19	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.68655	-0.5351	10	0.28530	T	0.3	-7.448	20.3207	0.98668	0.0:1.0:0.0:0.0	.	275;275	A8K0N9;Q9BXC9	.;BBS2_HUMAN	Q	275	ENSP00000245157:R275Q	ENSP00000245157:R275Q	R	-	2	0	BBS2	55094202	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.768000	0.85345	2.813000	0.96785	0.561000	0.74099	CGA	BBS2	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot		0.373	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	C	NM_031885		56536701	-1	no_errors	ENST00000245157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56536701	C	T	56536701	3	4	143	1	0	0	0	0	1	0	0	0	1339	884	31	1	1381	1	BBS2	16	56536701	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09		56536701	33818052	48	23154										
MAST1	22983	genome.wustl.edu	37	chr19	12978425	12978425	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cgggaggggctgggcggcctGaccctgcgtgagaagacctg	19	11	0	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr19:12978425G>A	ENST00000251472.4	+	19	2316	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGGGCGGCCTGACCCTGCGTG	0.682																																																	0													15	19	17					19																	12978425		2198	4295	6493	SO:0001819	synonymous_variant	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2277G>A	19.37:g.12978425G>A				Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.L759	ENST00000251472.4	37	c.2277	CCDS32921.1	19																																																																																			MAST1	-	NULL		0.682	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12978425	1	no_errors	ENST00000251472	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12978425	G	A	12978425	2	1	143	1	0	0	0	0	0	0	0	1	9347	1277	45	1		1	MAST1	19	12978425	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		12978425	46150558	49	23155										
GPI	2821	genome.wustl.edu	37	chr19	34857712	34857712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	agtccaggggcgtggaggccGcccgggagcggatgttcaat	18	10	1	0	rs139923243		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr19:34857712G>T	ENST00000356487.5	+	3	479	c.238G>T	c.(238-240)Gcc>Tcc	p.A80S	GPI_ENST00000415930.3_Missense_Mutation_p.A119S|GPI_ENST00000586425.1_Missense_Mutation_p.A80S	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	80					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CGTGGAGGCCGCCCGGGAGCG	0.602																																																	0													77	81	80					19																	34857712		2203	4300	6503	SO:0001583	missense	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.238G>T	19.37:g.34857712G>T	ENSP00000348877:p.Ala80Ser		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.A119S	ENST00000356487.5	37	c.355	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024300	0.75390	.	.	ENSG00000105220	ENST00000415930;ENST00000356487;ENST00000392234	D;D	0.94232	-3.38;-3.38	5.54	5.54	0.83059	.	0.045688	0.85682	D	0.000000	D	0.95762	0.8621	M	0.69823	2.125	0.80722	D	1	B;B;P;B	0.42961	0.032;0.214;0.795;0.013	B;B;P;B	0.54924	0.101;0.162;0.764;0.185	D	0.95593	0.8656	10	0.59425	D	0.04	-14.7371	19.0718	0.93140	0.0:0.0:1.0:0.0	.	80;119;401;80	B4DE36;B4DG39;Q59F85;P06744	.;.;.;G6PI_HUMAN	S	119;80;401	ENSP00000405573:A119S;ENSP00000348877:A80S	ENSP00000348877:A80S	A	+	1	0	GPI	39549552	1.000000	0.71417	0.467000	0.27180	0.851000	0.48451	7.165000	0.77544	2.623000	0.88846	0.561000	0.74099	GCC	GPI	-	pfam_G6P_Isomerase		0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	G			34857712	1	no_errors	ENST00000415930	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34857712	G	T	34857712	3	4	143	1	0	0	0	0	1	0	0	0	6630	1087	38	2	369	2	GPI	19	34857712	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	21879287	34857712	24271271	50	23156										
TNNC2	7125	genome.wustl.edu	37	chr20	44453153	44453153	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ccgtcctcatccacctcctcGatgatggcgtccagctcctc	7	19	1	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr20:44453153G>A	ENST00000372555.3	-	3	272	c.180C>T	c.(178-180)atC>atT	p.I60I	TNNC2_ENST00000372557.1_Silent_p.I45I	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCACCTCCTCGATGATGGCGT	0.647																																																	0													130	103	112					20																	44453153		2203	4300	6503	SO:0001819	synonymous_variant	7125				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.180C>T	20.37:g.44453153G>A			Q6FH92	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I60	ENST00000372555.3	37	c.180	CCDS13375.1	20																																																																																			TNNC2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.647	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	G	NM_003279		44453153	-1	no_errors	ENST00000372555	ensembl	human	known	70_37	silent	SNP	0.999	A	A	44453153	G	A	44453153	2	1	143	1	0	0	0	0	0	0	0	1	16355	1048	37	1		1	TNNC2	20	44453153	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09		44453153	18572367	51	23157										
C20orf135	140701	genome.wustl.edu	37	chr20	62494153	62494153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	gccctggggccacacggaccCgccttcccatggctggtggg	15	16	0	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr20:62494153C>T	ENST00000369916.3	+	1	1588	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000348257.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	420							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CACACGGACCCGCCTTCCCAT	0.716																																																	0													11	10	11					20																	62494153		2010	3874	5884	SO:0001819	synonymous_variant	140701				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1260C>T	20.37:g.62494153C>T				Silent	SNP	pfam_AB_hydrolase_1	p.P420	ENST00000369916.3	37	c.1260	CCDS13539.1	20																																																																																			ABHD16B	-	NULL		0.716	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	C			62494153	1	no_errors	ENST00000369916	ensembl	human	known	70_37	silent	SNP	0.006	T	T	62494153	C	T	62494153	2	4	143	1	0	0	0	0	0	0	0	1	2093	639	23	2		2	C20orf135	20	62494153	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	18041000	62494153	531367	52	23158										
UCKL1	54963	genome.wustl.edu	37	chr20	62575995	62575995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tactgcttgatgacaccctcGatgtcccggccgcgctcact	9	16	1	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr20:62575995G>A	ENST00000354216.6	-	6	789	c.747C>T	c.(745-747)atC>atT	p.I249I	UCKL1_ENST00000358711.3_Silent_p.I249I|UCKL1_ENST00000369908.5_Silent_p.I234I|UCKL1_ENST00000369892.3_Silent_p.I249I|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000492660.1_5'Flank	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	249					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGACACCCTCGATGTCCCGGC	0.602																																																	0													187	112	137					20																	62575995		2199	4299	6498	SO:0001819	synonymous_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.747C>T	20.37:g.62575995G>A			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.I249	ENST00000354216.6	37	c.747	CCDS13547.1	20																																																																																			UCKL1	-	pfam_PRK/URK,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase		0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	G	NM_017859		62575995	-1	no_errors	ENST00000354216	ensembl	human	known	70_37	silent	SNP	0.976	A	A	62575995	G	A	62575995	2	1	143	1	0	0	0	0	0	0	0	1	16956	1048	37	1		1	UCKL1	20	62575995	Silent	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	81842	62575995	449525	53	23159										
MAPK1	5594	genome.wustl.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	9	11	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165	132	143					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22127164	C	T	22127164	3	4	143	1	0	0	0	0	1	0	0	0	9294	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09		22127164	29177402	54	23160										
HUWE1	10075	genome.wustl.edu	37	chrX	53615416	53615416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cagtgtggccatctgacttaTccactctgacacggtttttg	9	11	2	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:53615416T>C	ENST00000342160.3	-	36	4997	c.4540A>G	c.(4540-4542)Ata>Gta	p.I1514V	HUWE1_ENST00000262854.6_Missense_Mutation_p.I1514V|HUWE1_ENST00000218328.8_Missense_Mutation_p.I1514V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1514					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCTGACTTATCCACTCTGAC	0.448																																																	0													121	83	95					X																	53615416		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4540A>G	X.37:g.53615416T>C	ENSP00000340648:p.Ile1514Val		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.I1514V	ENST00000342160.3	37	c.4540	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.360|9.360	1.067754|1.067754	0.20067|0.20067	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.39787	.|1.39;1.39;1.06	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.124870	.|0.53938	.|D	.|0.000058	T|T	0.24392|0.24392	0.0591|0.0591	N|N	0.14661|0.14661	0.345|0.345	0.37318|0.37318	D|D	0.90941|0.90941	.|B;P	.|0.34743	.|0.165;0.466	.|B;B	.|0.28916	.|0.031;0.096	T|T	0.23048|0.23048	-1.0199|-1.0199	5|10	.|0.16896	.|T	.|0.51	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1514;1514	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	G|V	547|1514	.|ENSP00000340648:I1514V;ENSP00000262854:I1514V;ENSP00000218328:I1514V	.|ENSP00000218328:I1514V	D|I	-|-	2|1	0|0	HUWE1|HUWE1	53632141|53632141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.839000|4.839000	0.62810|0.62810	1.962000|1.962000	0.57031|0.57031	0.486000|0.486000	0.48141|0.48141	GAT|ATA	HUWE1	-	NULL		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	T	XM_497119		53615416	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53615416	T	C	53615416	3	2	143	1	0	0	0	0	1	0	0	0	7481	1435	50	5	8776	5	HUWE1	23	53615416	Missense_Mutation	SNP	T	TCGA-HM-A3JK-01A-11D-A21Q-09		53615416	101655144	55	23161										
MAGEE1	57692	genome.wustl.edu	37	chrX	75651040	75651040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	tgtatggggtcctagagcccGtttggaaacctctaagatga	12	8	1	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:75651040G>A	ENST00000361470.2	+	1	2995	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	906	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTAGAGCCCGTTTGGAAACC	0.483																																																	0													79	74	76					X																	75651040		2203	4300	6503	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2717G>A	X.37:g.75651040G>A	ENSP00000354912:p.Arg906His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R906H	ENST00000361470.2	37	c.2717	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	.	6.759	0.508865	0.12883	.	.	ENSG00000198934	ENST00000361470	T	0.04603	3.59	2.21	2.21	0.28008	.	.	.	.	.	T	0.02688	0.0081	N	0.00280	-1.71	0.26582	N	0.973364	D	0.89917	1.0	D	0.69307	0.963	T	0.47045	-0.9147	9	0.13470	T	0.59	.	7.167	0.25695	0.0:0.0:1.0:0.0	.	906	Q9HCI5	MAGE1_HUMAN	H	906	ENSP00000354912:R906H	ENSP00000354912:R906H	R	+	2	0	MAGEE1	75567444	0.937000	0.31787	0.918000	0.36340	0.951000	0.60555	0.550000	0.23345	1.380000	0.46344	0.529000	0.55759	CGT	MAGEE1	-	pfam_MAGE,pfscan_MAGE		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75651040	1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.898	A	A	75651040	G	A	75651040	3	1	143	1	0	0	0	0	1	0	0	0	9208	1145	40	2	2719	2	MAGEE1	23	75651040	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	22035624	75651040	79619520	56	23162										
PCDH11X	27328	genome.wustl.edu	37	chrX	91090517	91090517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	acctggtatggacttgttgtCcgggacgtacattttcgcgg	13	9	0	0			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:91090517C>T	ENST00000373094.1	+	1	859	c.14C>T	c.(13-15)tCc>tTc	p.S5F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S5F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S5F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S5F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S5F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	5					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACTTGTTGTCCGGGACGTAC	0.473																																					NSCLC(38;925 1092 2571 38200 45895)												0													127	105	112					X																	91090517		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.14C>T	X.37:g.91090517C>T	ENSP00000362186:p.Ser5Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S5F	ENST00000373094.1	37	c.14	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867083	0.32977	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54479	0.57;0.61;0.63;0.57;0.63;0.6;0.6;0.63;0.63	4.46	4.46	0.54185	.	0.157096	0.45606	D	0.000353	T	0.42223	0.1193	N	0.24115	0.695	0.40934	D	0.984413	B;B;B;B;B;B;B;B	0.20368	0.019;0.009;0.044;0.044;0.044;0.026;0.008;0.008	B;B;B;B;B;B;B;B	0.23852	0.033;0.02;0.049;0.049;0.049;0.022;0.015;0.015	T	0.44452	-0.9327	10	0.72032	D	0.01	.	15.517	0.75833	0.0:1.0:0.0:0.0	.	5;5;5;5;5;5;5;5	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	5	ENSP00000378746:S5F;ENSP00000362186:S5F;ENSP00000362189:S5F;ENSP00000355040:S5F;ENSP00000362180:S5F;ENSP00000423762:S5F;ENSP00000355105:S5F;ENSP00000384758:S5F;ENSP00000298274:S5F	ENSP00000298274:S5F	S	+	2	0	PCDH11X	90977173	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.523000	0.60545	1.935000	0.56089	0.415000	0.27848	TCC	PCDH11X	-	NULL		0.473	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91090517	1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91090517	C	T	91090517	3	4	143	1	0	0	0	0	1	0	0	0	11532	855	30	1	16	1	PCDH11X	23	91090517	Missense_Mutation	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	15439477	91090517	64180043	57	23163										
LRCH2	57631	genome.wustl.edu	37	chrX	114384485	114384485	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ccacggttgttcatctatttGatccttctgattttctaagg	7	9	4	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:114384485G>T	ENST00000317135.8	-	14	1630	c.1600C>A	c.(1600-1602)Caa>Aaa	p.Q534K	LRCH2_ENST00000538422.1_Missense_Mutation_p.Q534K	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	534										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCATCTATTTGATCCTTCTGA	0.323																																																	0													60	51	54					X																	114384485		1802	4060	5862	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1600C>A	X.37:g.114384485G>T	ENSP00000325091:p.Gln534Lys		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.Q534K	ENST00000317135.8	37	c.1600	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617375	0.14129	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.82984	-1.67;5.65	5.05	5.05	0.67936	.	0.806953	0.11409	N	0.566939	T	0.69142	0.3078	L	0.29908	0.895	0.25451	N	0.988007	B;B	0.25667	0.118;0.131	B;B	0.18871	0.011;0.023	T	0.56571	-0.7957	10	0.07325	T	0.83	-5.9947	7.3741	0.26818	0.1938:0.0:0.8062:0.0	.	534;534	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	K	534	ENSP00000325091:Q534K;ENSP00000439366:Q534K	ENSP00000325091:Q534K	Q	-	1	0	LRCH2	114290741	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.391000	0.44424	2.221000	0.72209	0.538000	0.68166	CAA	LRCH2	-	NULL		0.323	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114384485	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	missense	SNP	0.998	T	T	114384485	G	T	114384485	3	4	143	1	0	0	0	0	1	0	0	0	8956	1299	45	3	729	3	LRCH2	23	114384485	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	23293968	114384485	40886075	58	23164										
UTP14A	10813	genome.wustl.edu	37	chrX	129059022	129059022	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	agcttcccagacctgtgttaGaagggcagcagtcagagagg	14	9	1	3			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:129059022G>A	ENST00000394422.3	+	12	1628	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	UTP14A_ENST00000371051.5_Missense_Mutation_p.E480K|UTP14A_ENST00000425117.2_Missense_Mutation_p.E482K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E366K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	534					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACCTGTGTTAGAAGGGCAGCA	0.478																																																	0													106	107	107					X																	129059022		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1600G>A	X.37:g.129059022G>A	ENSP00000377944:p.Glu534Lys		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E534K	ENST00000394422.3	37	c.1600	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526647	0.27299	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	6.08	0.0981	0.14496	.	1.325480	0.04535	N	0.387039	T	0.13798	0.0334	L	0.42487	1.325	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.14023	0.01;0.01;0.01	T	0.34875	-0.9811	10	0.08599	T	0.76	-0.1255	6.7108	0.23276	0.2216:0.387:0.3914:0.0	.	480;482;534	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	482;534;480;366	ENSP00000388669:E482K;ENSP00000377944:E534K;ENSP00000360090:E480K;ENSP00000360081:E366K	ENSP00000360081:E366K	E	+	1	0	UTP14A	128886703	0.012000	0.17670	0.003000	0.11579	0.136000	0.21042	0.020000	0.13466	-0.473000	0.06871	-0.191000	0.12829	GAA	UTP14A	-	pfam_SSU_processome_Utp14		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129059022	1	no_errors	ENST00000394422	ensembl	human	known	70_37	missense	SNP	0.016	A	A	129059022	G	A	129059022	3	1	143	1	0	0	0	0	1	0	0	0	17126	943	33	1	1646	1	UTP14A	23	129059022	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	14674537	129059022	26211538	59	23165										
MST4	90167	genome.wustl.edu	37	chrX	131208175	131208175	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ttttataggtgttcagcagaCgaatccccctaagaaactta	7	9	1	2			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:131208175C>T	ENST00000298542.4	-	0	3198				MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000481105.1_Silent_p.D435D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000394334.2_Silent_p.D413D|MST4_ENST00000394335.2_Silent_p.D336D	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7						regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D413D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363													C|||	1	0.000264901	0	0.0014	3775	,	,		11124	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)											99	97	98					X																	131208175		2203	4298	6501	SO:0001628	intergenic_variant	51765			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421		X.37:g.131208175C>T			C0LLJ3|Q5JX99	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D413	ENST00000298542.4	37	c.1239	CCDS35397.1	X																																																																																			MST4	-	NULL		0.363	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST4	Uniprot_genename	protein_coding	OTTHUMT00000355031.1	C	NM_194277		131208175	1	no_errors	ENST00000394334	ensembl	human	known	70_37	silent	SNP	0.999	T	T	131208175	C	T	131208175	1	4	143	0	1	0	0	0	0	0	0	0	9915	535	19	2		2	MST4	23	131208175	IGR	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	2149153	131208175	24062385	60	23166										
ABCD1	215	genome.wustl.edu	37	chrX	152990784	152990784	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	ctgaagcgcacggccgtgctCctggccctcgcggcctatgg	14	16	0	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:152990784C>T	ENST00000218104.3	+	1	462	c.63C>T	c.(61-63)ctC>ctT	p.L21L	BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	21					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCGTGCTCCTGGCCCTCG	0.741																																																	0													5	5	5					X																	152990784		1843	3507	5350	SO:0001819	synonymous_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.63C>T	X.37:g.152990784C>T			Q6GTZ2	Silent	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.L21	ENST00000218104.3	37	c.63	CCDS14728.1	X																																																																																			ABCD1	-	tigrfam_FA_transporter		0.741	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	C	NM_000033		152990784	1	no_errors	ENST00000218104	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152990784	C	T	152990784	2	4	143	1	0	0	0	0	0	0	0	1	60	842	30	1		1	ABCD1	23	152990784	Silent	SNP	C	TCGA-HM-A3JK-01A-11D-A21Q-09	21782609	152990784	2279776	61	23167										
AVPR2	554	genome.wustl.edu	37	chrX	153172076	153172076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	10	0.184630051397566	1.44941847706825	7.10215053763441	1.08076203833567	0.19838056680162	0.43242505572488	0	cagcgtgtcctcagagctgcGaagcttgctctgctgtgccc	12	14	2	1			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:153172076G>A	ENST00000358927.2	+	4	1219	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000337474.5_Missense_Mutation_p.R337Q|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	337					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCAGAGCTGCGAAGCTTGCTC	0.627																																																	0													102	88	93					X																	153172076		2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1010G>A	X.37:g.153172076G>A	ENSP00000351805:p.Arg337Gln		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R337Q	ENST00000358927.2	37	c.1010	CCDS14735.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.023|0.023	-1.396295|-1.396295	0.01175|0.01175	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.74209|0.39406	-0.82|1.08;1.08	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.331999	.|0.27816	.|N	.|0.017738	T|T	0.26919|0.26919	0.0659|0.0659	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999998|0.999998	.|P	.|0.41313	.|0.745	.|B	.|0.22753	.|0.041	T|T	0.21724|0.21724	-1.0237|-1.0237	7|10	0.46703|0.24483	T|T	0.11|0.36	.|.	9.1182|9.1182	0.36771|0.36771	0.1086:0.0:0.8914:0.0|0.1086:0.0:0.8914:0.0	.|.	.|337	.|P30518	.|V2R_HUMAN	K|Q	308|337	ENSP00000393513:E308K|ENSP00000351805:R337Q;ENSP00000338072:R337Q	ENSP00000393513:E308K|ENSP00000338072:R337Q	E|R	+|+	1|2	0|0	AVPR2|AVPR2	152825270|152825270	0.009000|0.009000	0.17119|0.17119	0.822000|0.822000	0.32727|0.32727	0.038000|0.038000	0.13279|0.13279	0.815000|0.815000	0.27253|0.27253	1.880000|1.880000	0.54463|0.54463	0.418000|0.418000	0.28097|0.28097	GAA|CGA	AVPR2	-	prints_Vprsn_rcpt_V2		0.627	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	HGNC	protein_coding	OTTHUMT00000061127.2	G			153172076	1	no_errors	ENST00000337474	ensembl	human	known	70_37	missense	SNP	0.183	A	A	153172076	G	A	153172076	3	1	143	1	0	0	0	0	1	0	0	0	1234	1058	37	1	1040	1	AVPR2	23	153172076	Missense_Mutation	SNP	G	TCGA-HM-A3JK-01A-11D-A21Q-09	181292	153172076	2098484	62	23168										
CD164L2	388611	genome.wustl.edu	37	chr1	27709014	27709014	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ctcctctggccggcactgctCccacatgcagctggagagat	11	15	1	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:27709014C>G	ENST00000374030.1	-	2	372	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	CD164L2_ENST00000374027.3_Missense_Mutation_p.E78Q|CD164L2_ENST00000374025.3_Missense_Mutation_p.E78Q			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	78						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCACTGCTCCCACATGCAG	0.642																																																	0													43	44	44					1																	27709014		2203	4300	6503	SO:0001583	missense	388611			AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.232G>C	1.37:g.27709014C>G	ENSP00000363142:p.Glu78Gln		B2RPJ0|Q5JXD6	Missense_Mutation	SNP	pfam_CD164_MGC24	p.E78Q	ENST00000374030.1	37	c.232		1	.	.	.	.	.	.	.	.	.	.	C	3.744	-0.052939	0.07362	.	.	ENSG00000174950	ENST00000374030;ENST00000374027;ENST00000374025	T;T;T	0.40225	1.04;1.04;1.04	4.5	2.55	0.30701	.	0.425927	0.19050	N	0.124061	T	0.28267	0.0698	L	0.38838	1.175	0.24495	N	0.994283	B	0.17852	0.024	B	0.17433	0.018	T	0.16100	-1.0414	10	0.35671	T	0.21	-13.6936	4.797	0.13277	0.0:0.5426:0.3084:0.1491	.	78	Q6UWJ8	C16L2_HUMAN	Q	78	ENSP00000363142:E78Q;ENSP00000363139:E78Q;ENSP00000363137:E78Q	ENSP00000363137:E78Q	E	-	1	0	CD164L2	27581601	0.951000	0.32395	0.959000	0.39883	0.149000	0.21700	0.829000	0.27449	0.473000	0.27368	0.555000	0.69702	GAG	CD164L2	-	pfam_CD164_MGC24		0.642	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CD164L2	HGNC	protein_coding	OTTHUMT00000009518.1	C	NM_207397		27709014	-1	no_errors	ENST00000374030	ensembl	human	known	70_37	missense	SNP	0.985	G	G	27709014	C	G	27709014	3	3	144	1	0	0	0	0	1	0	0	0	2975	864	30	1	305	1	CD164L2	1	27709014	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		27709014	221541607	1	23169										
KIAA0467	23334	genome.wustl.edu	37	chr1	43908244	43908244	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ctcagccagaagcttggcctCttccatcattatggccagtt	8	13	3	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:43908244C>T	ENST00000562955.1	+	57	7935	c.7935C>T	c.(7933-7935)ctC>ctT	p.L2645L	SZT2_ENST00000372442.1_Silent_p.L1803L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2702					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGCTTGGCCTCTTCCATCATT	0.557																																																	0													92	94	93					1																	43908244		2203	4300	6503	SO:0001819	synonymous_variant	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7935C>T	1.37:g.43908244C>T			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NULL	p.L2645	ENST00000562955.1	37	c.7935	CCDS30694.2	1																																																																																			SZT2	-	NULL		0.557	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	C	NM_015284		43908244	1	no_errors	ENST00000562955	ensembl	human	known	70_37	silent	SNP	0.950	T	T	43908244	C	T	43908244	2	4	144	1	0	0	0	0	0	0	0	1	8198	900	32	1		1	KIAA0467	1	43908244	Silent	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	16199230	43908244	205342377	2	23170										
BCAS2	10286	genome.wustl.edu	37	chr1	115118335	115118335	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ttcttgccatgcagtaatgtCatttttttgaccagaggagg	10	7	2	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:115118335C>G	ENST00000369541.3	-	4	342	c.295G>C	c.(295-297)Gac>Cac	p.D99H	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	99					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGTAATGTCATTTTTTTGA	0.383																																																	0													106	99	101					1																	115118335		2203	4300	6503	SO:0001583	missense	10286			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.295G>C	1.37:g.115118335C>G	ENSP00000358554:p.Asp99His		Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.D99H	ENST00000369541.3	37	c.295	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701297	0.88924	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84795	0.0781	9	0.56958	D	0.05	-15.0525	19.5317	0.95231	0.0:1.0:0.0:0.0	.	99	O75934	SPF27_HUMAN	H	99	.	ENSP00000358554:D99H	D	-	1	0	BCAS2	114919858	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.269000	0.78482	2.701000	0.92244	0.644000	0.83932	GAC	BCAS2	-	pfam_BCAS2		0.383	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	C	NM_005872		115118335	-1	no_errors	ENST00000369541	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115118335	C	G	115118335	3	3	144	1	0	0	0	0	1	0	0	0	1352	826	29	1	398	1	BCAS2	1	115118335	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	71210091	115118335	134132286	3	23171										
LASS2	29956	genome.wustl.edu	37	chr1	150940615	150940615	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tcctggttgcggcggcgacgGaaccaacgctctacctggcg	14	14	1	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:150940615G>A	ENST00000271688.6	-	4	740	c.354C>T	c.(352-354)ttC>ttT	p.F118F	CERS2_ENST00000561294.1_Silent_p.F109F|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Silent_p.F118F|CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	118					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCGGCGACGGAACCAACGCT	0.597																																																	0													67	72	70					1																	150940615		2203	4300	6503	SO:0001819	synonymous_variant	29956			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.354C>T	1.37:g.150940615G>A			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.F118	ENST00000271688.6	37	c.354	CCDS973.1	1																																																																																			CERS2	-	pfam_Homeodomain,superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeodomain		0.597	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	G	NM_022075		150940615	-1	no_errors	ENST00000271688	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150940615	G	A	150940615	2	1	144	1	0	0	0	0	0	0	0	1	8659	1165	41	1		1	LASS2	1	150940615	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	35822280	150940615	98310006	4	23172										
LAMC1	3915	genome.wustl.edu	37	chr1	183104287	183104287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	aatgacattctcaacaacctGaaaggtagaaaaggctgaga	9	7	1	4			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:183104287G>A	ENST00000258341.4	+	24	4367	c.4110G>A	c.(4108-4110)ctG>ctA	p.L1370L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1370	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TCAACAACCTGAAAGGTAGAA	0.438																																																	0													52	46	48					1																	183104287		2203	4300	6503	SO:0001819	synonymous_variant	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4110G>A	1.37:g.183104287G>A			Q5VYE7	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1370	ENST00000258341.4	37	c.4110	CCDS1351.1	1																																																																																			LAMC1	-	NULL		0.438	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	G	NM_002293		183104287	1	no_errors	ENST00000258341	ensembl	human	known	70_37	silent	SNP	1.000	A	A	183104287	G	A	183104287	2	1	144	1	0	0	0	0	0	0	0	1	8634	1277	45	1		1	LAMC1	1	183104287	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	32163672	183104287	66146334	5	23173										
EPRS	2058	genome.wustl.edu	37	chr1	220142417	220142417	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tacctggcagtggtctttttGatccagtcctcacagtcaat	8	11	3	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:220142417G>C	ENST00000366923.3	-	31	4640	c.4371C>G	c.(4369-4371)atC>atG	p.I1457M	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1457	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGGTCTTTTTGATCCAGTCCT	0.338																																																	0													118	115	116					1																	220142417		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4371C>G	1.37:g.220142417G>C	ENSP00000355890:p.Ile1457Met		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.I1457M	ENST00000366923.3	37	c.4371	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794920	0.50208	.	.	ENSG00000136628	ENST00000366923	T	0.13778	2.56	5.45	3.55	0.40652	Prolyl-tRNA synthetase, class II, C-terminal (3);Prolyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.89353	3.025	0.46631	D	0.999138	D	0.89917	1.0	D	0.91635	0.999	T	0.17048	-1.0382	10	0.87932	D	0	-16.6571	6.9783	0.24688	0.1451:0.0:0.715:0.1398	.	1457	P07814	SYEP_HUMAN	M	1457	ENSP00000355890:I1457M	ENSP00000355890:I1457M	I	-	3	3	EPRS	218209040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.391000	0.34475	0.651000	0.30788	0.655000	0.94253	ATC	EPRS	-	pfam_Pro-tRNA_ligase_II_C,superfamily_Pro-tRNA_synth_II,smart_Pro-tRNA_ligase_II_C,tigrfam_Pro-tRNA-ligase_IIa_arc-type		0.338	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220142417	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	C	C	220142417	G	C	220142417	3	2	144	1	0	0	0	0	1	0	0	0	5203	1280	45	1	175	1	EPRS	1	220142417	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	37038130	220142417	29108204	6	23174										
C1orf115	79762	genome.wustl.edu	37	chr1	220863780	220863780	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	aggctccgaagcaaggcggaGagcagcctcctgcgccgcgg	16	14	0	1	rs568991746	byFrequency	TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:220863780G>C	ENST00000294889.5	+	1	594	c.36G>C	c.(34-36)gaG>gaC	p.E12D		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	12						integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		GCAAGGCGGAGAGCAGCCTCC	0.721																																																	0													4	3	4					1																	220863780		1890	3709	5599	SO:0001583	missense	79762			AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.36G>C	1.37:g.220863780G>C	ENSP00000294889:p.Glu12Asp		B3KRN3|D3DTB2	Missense_Mutation	SNP	NULL	p.E12D	ENST00000294889.5	37	c.36	CCDS1524.1	1	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048435	0.19827	.	.	ENSG00000162817	ENST00000294889	.	.	.	4.67	-2.82	0.05787	.	1.925800	0.03672	U	0.244185	T	0.16128	0.0388	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21655	-1.0239	9	0.15066	T	0.55	-3.7551	9.3154	0.37930	0.161:0.4824:0.3566:0.0	.	12	Q9H7X2	CA115_HUMAN	D	12	.	ENSP00000294889:E12D	E	+	3	2	C1orf115	218930403	0.000000	0.05858	0.577000	0.28562	0.537000	0.34900	-1.104000	0.03326	0.017000	0.15025	0.491000	0.48974	GAG	C1orf115	-	NULL		0.721	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf115	HGNC	protein_coding	OTTHUMT00000090922.3	G	NM_024709		220863780	1	no_errors	ENST00000294889	ensembl	human	known	70_37	missense	SNP	0.000	C	C	220863780	G	C	220863780	3	2	144	1	0	0	0	0	1	0	0	0	1993	933	33	1	38	1	C1orf115	1	220863780	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	721363	220863780	28386841	7	23175										
TARBP1	6894	genome.wustl.edu	37	chr1	234613973	234613973	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ccccagctccgccgacacctCcaccgccctctgcagcaggt	8	22	1	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr1:234613973C>G	ENST00000040877.1	-	1	876	c.877G>C	c.(877-879)Gag>Cag	p.E293Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCGACACCTCCACCGCCCTC	0.716																																																	0													10	12	11					1																	234613973		2084	4160	6244	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.877G>C	1.37:g.234613973C>G	ENSP00000040877:p.Glu293Gln		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.E293Q	ENST00000040877.1	37	c.877	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801454	0.50315	.	.	ENSG00000059588	ENST00000040877	T	0.05786	3.39	4.48	3.54	0.40534	.	0.209825	0.39985	N	0.001212	T	0.04724	0.0128	N	0.16478	0.41	0.28263	N	0.924746	B	0.14805	0.011	B	0.12837	0.008	T	0.27262	-1.0079	10	0.29301	T	0.29	-22.2545	13.1185	0.59313	0.0:0.8371:0.1629:0.0	.	293	Q13395	TARB1_HUMAN	Q	293	ENSP00000040877:E293Q	ENSP00000040877:E293Q	E	-	1	0	TARBP1	232680596	0.998000	0.40836	0.990000	0.47175	0.861000	0.49209	1.991000	0.40727	1.012000	0.39366	0.484000	0.47621	GAG	TARBP1	-	NULL		0.716	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646		234613973	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	1.000	G	G	234613973	C	G	234613973	3	3	144	1	0	0	0	0	1	0	0	0	15585	864	30	1	4108	1	TARBP1	1	234613973	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	13750193	234613973	14636648	8	23176										
EGR4	1961	genome.wustl.edu	37	chr2	73519561	73519561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	agggggcacccgcgcaaggcGaggcctcccagaacgcctct	14	16	1	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr2:73519561G>A	ENST00000545030.1	-	2	868	c.794C>T	c.(793-795)tCg>tTg	p.S265L	EGR4_ENST00000436467.2_Missense_Mutation_p.S162L	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	265	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCGCAAGGCGAGGCCTCCCA	0.721																																																	0													8	11	10					2																	73519561		2169	4251	6420	SO:0001583	missense	1961				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.794C>T	2.37:g.73519561G>A	ENSP00000445626:p.Ser265Leu		B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S265L	ENST00000545030.1	37	c.794	CCDS1925.2	2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322320	0.23994	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.15139	2.45;2.79	4.39	4.39	0.52855	.	0.663371	0.14050	N	0.344855	T	0.12305	0.0299	N	0.24115	0.695	0.27841	N	0.94112	B;B	0.20780	0.029;0.048	B;B	0.19148	0.011;0.024	T	0.07252	-1.0782	10	0.62326	D	0.03	-8.1456	9.4657	0.38811	0.0984:0.0:0.9016:0.0	.	162;265	Q05215;G3V1T5	EGR4_HUMAN;.	L	265;162	ENSP00000445626:S265L;ENSP00000419687:S162L	ENSP00000419687:S162L	S	-	2	0	EGR4	73373069	0.112000	0.22096	0.985000	0.45067	0.221000	0.24807	1.161000	0.31773	2.267000	0.75376	0.555000	0.69702	TCG	EGR4	-	NULL		0.721	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding		G	NM_001965		73519561	-1	no_errors	ENST00000545030	ensembl	human	known	70_37	missense	SNP	0.958	A	A	73519561	G	A	73519561	3	1	144	1	0	0	0	0	1	0	0	0	4984	1059	37	1	979	1	EGR4	2	73519561	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		73519561	169679812	9	23177										
RNF149	284996	genome.wustl.edu	37	chr2	101924597	101924597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cccggcctgctcacccgcgtGagacatgggcaaggtgatgt	14	13	1	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr2:101924597G>A	ENST00000295317.3	-	1	561	c.454C>T	c.(454-456)Cac>Tac	p.H152Y	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	152	PA.				cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TCACCCGCGTGAGACATGGGC	0.687																																					Colon(25;331 612 6521 7355 31028)												0													22	27	25					2																	101924597		2178	4252	6430	SO:0001583	missense	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.454C>T	2.37:g.101924597G>A	ENSP00000295317:p.His152Tyr		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H152Y	ENST00000295317.3	37	c.454	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252153	0.59212	.	.	ENSG00000163162	ENST00000295317	T	0.06218	3.33	4.67	3.79	0.43588	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000017	T	0.12220	0.0297	M	0.76433	2.335	0.53005	D	0.999965	P	0.47677	0.899	B	0.42882	0.401	T	0.03364	-1.1044	10	0.87932	D	0	.	14.2563	0.66053	0.0:0.0:0.8501:0.1499	.	152	Q8NC42	RN149_HUMAN	Y	152	ENSP00000295317:H152Y	ENSP00000295317:H152Y	H	-	1	0	RNF149	101291029	1.000000	0.71417	0.997000	0.53966	0.062000	0.15995	4.328000	0.59253	0.931000	0.37242	0.313000	0.20887	CAC	RNF149	-	pfam_Protease-assoc_domain		0.687	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	G	NM_173647		101924597	-1	no_errors	ENST00000295317	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101924597	G	A	101924597	3	1	144	1	0	0	0	0	1	0	0	0	13480	1290	45	1	776	1	RNF149	2	101924597	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	28405036	101924597	141274776	10	23178										
IKZF2	22807	genome.wustl.edu	37	chr2	213921756	213921757	+	Frame_Shift_Ins	INS	-	-	T													0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	catcatggcccctgatctcaINStcttcacggctcaggggttt							TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr2:213921756_213921757insT	ENST00000434687.1	-	5	515_516	c.206_207insA	c.(205-207)gatfs	p.D69fs	IKZF2_ENST00000451136.2_Frame_Shift_Ins_p.D69fs|IKZF2_ENST00000457361.1_Frame_Shift_Ins_p.D69fs|IKZF2_ENST00000421754.2_Frame_Shift_Ins_p.D69fs|IKZF2_ENST00000413091.3_Frame_Shift_Ins_p.D69fs|IKZF2_ENST00000342002.2_Frame_Shift_Ins_p.D75fs|IKZF2_ENST00000374319.4_Frame_Shift_Ins_p.D69fs|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	69				D -> N (in Ref. 1; AAF09441 and 2; AAS99857/AAS99859/AAS99861/AAS99862/ AAS99863/AAS99864). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCCTGATCTCATCTTCACGGCT	0.45																																																	0																																										SO:0001589	frameshift_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.207dupA	2.37:g.213921757_213921757dupT	ENSP00000412869:p.Asp69fs		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D69fs	ENST00000434687.1	37	c.207_206	CCDS2395.1	2																																																																																			IKZF2	-	NULL		0.45	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	-	NM_016260		213921757	-1	no_errors	ENST00000434687	ensembl	human	known	70_37	frame_shift_ins	INS	0.080:0.808	T	T	213921757	-	T	213921756	7	5	144	1	0	1	1	0	0	0	0	0	7635	214	8	0	1393	0	IKZF2	2	213921756	Frame_Shift_Ins	INS	-	TCGA-HM-A4S6-01A-11D-A26G-09	111997159	213921756	29277617	11	23179										
DHX30	22907	genome.wustl.edu	37	chr3	47882630	47882630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gttaccgacttcttgtccatGacccagcaggattcccacgc	8	15	1	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:47882630G>C	ENST00000445061.1	+	7	1037	c.630G>C	c.(628-630)atG>atC	p.M210I	DHX30_ENST00000446256.2_Missense_Mutation_p.M171I|DHX30_ENST00000348968.4_Missense_Mutation_p.M182I|DHX30_ENST00000457607.1_Missense_Mutation_p.M238I	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	210						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCTTGTCCATGACCCAGCAGG	0.582																																																	0													52	54	53					3																	47882630		2203	4300	6503	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.630G>C	3.37:g.47882630G>C	ENSP00000405620:p.Met210Ile		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M210I	ENST00000445061.1	37	c.630	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057675	0.55325	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03152	4.07;4.05;4.06;4.03	5.17	5.17	0.71159	.	0.310457	0.35585	N	0.003110	T	0.04272	0.0118	L	0.36672	1.1	0.42504	D	0.992941	B;B;B	0.16396	0.015;0.003;0.017	B;B;B	0.16289	0.004;0.01;0.015	T	0.47749	-0.9093	10	0.15952	T	0.53	.	15.8202	0.78633	0.0:0.0:1.0:0.0	.	210;171;238	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	I	171;210;182;238	ENSP00000392601:M171I;ENSP00000405620:M210I;ENSP00000343442:M182I;ENSP00000394682:M238I	ENSP00000343442:M182I	M	+	3	0	DHX30	47857634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	2.386000	0.81285	0.655000	0.94253	ATG	DHX30	-	NULL		0.582	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	G	NM_138615		47882630	1	no_errors	ENST00000445061	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47882630	G	C	47882630	3	2	144	1	0	0	0	0	1	0	0	0	4514	1290	45	1	659	1	DHX30	3	47882630	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		47882630	150139800	12	23180										
RASSF1	11186	genome.wustl.edu	37	chr3	50369018	50369018	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tgacgctcagcgcgctcaaaGagtgcaaacttgcgggggtc	14	11	2	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:50369018G>C	ENST00000357043.2	-	4	779	c.744C>G	c.(742-744)ctC>ctG	p.L248L	RASSF1_ENST00000359365.4_Silent_p.L244L|RASSF1_ENST00000395126.3_Silent_p.L93L|RASSF1_ENST00000327761.3_Silent_p.L174L					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCGCTCAAAGAGTGCAAACT	0.592																																																	0													71	80	77					3																	50369018		2203	4300	6503	SO:0001819	synonymous_variant	11186			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.744C>G	3.37:g.50369018G>C				Silent	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L248	ENST00000357043.2	37	c.744	CCDS2820.1	3																																																																																			RASSF1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.592	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000314304.1	G			50369018	-1	no_errors	ENST00000357043	ensembl	human	known	70_37	silent	SNP	0.898	C	C	50369018	G	C	50369018	2	2	144	1	0	0	0	0	0	0	0	1	13114	929	33	1		1	RASSF1	3	50369018	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	2486388	50369018	147653412	13	23181										
LMOD3	56203	genome.wustl.edu	37	chr3	69171504	69171504	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	aatctcctcatcgagaagttCttcttgatctgaatttctgc	6	10	6	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:69171504C>G	ENST00000420581.2	-	1	213	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	LMOD3_ENST00000489031.1_Missense_Mutation_p.E12Q|LMOD3_ENST00000475434.1_Missense_Mutation_p.E12Q	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	12						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCGAGAAGTTCTTCTTGATCT	0.343																																																	0													42	39	40					3																	69171504		1833	4084	5917	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.34G>C	3.37:g.69171504C>G	ENSP00000414670:p.Glu12Gln		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.E12Q	ENST00000420581.2	37	c.34	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586730	0.86851	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.13538	2.58;2.58;2.58	5.23	5.23	0.72850	.	0.309838	0.35615	N	0.003081	T	0.26557	0.0649	L	0.56769	1.78	0.48288	D	0.999622	P	0.51351	0.944	P	0.53360	0.724	T	0.01382	-1.1369	10	0.20519	T	0.43	-19.7908	18.786	0.91955	0.0:1.0:0.0:0.0	.	12	Q0VAK6	LMOD3_HUMAN	Q	12	ENSP00000414670:E12Q;ENSP00000417210:E12Q;ENSP00000418645:E12Q	ENSP00000414670:E12Q	E	-	1	0	LMOD3	69254194	0.997000	0.39634	0.974000	0.42286	0.905000	0.53344	4.222000	0.58580	2.440000	0.82611	0.591000	0.81541	GAA	LMOD3	-	NULL		0.343	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	C	XM_067529		69171504	-1	no_errors	ENST00000420581	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69171504	C	G	69171504	3	3	144	1	0	0	0	0	1	0	0	0	8879	922	32	1	1660	1	LMOD3	3	69171504	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	18802486	69171504	128850926	14	23182										
CCDC52	152185	genome.wustl.edu	37	chr3	113187200	113187200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cagaggttgtgctacctgatGatatgtttttcttcggcttg	11	7	1	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:113187200G>A	ENST00000295872.4	-	10	1200	c.941C>T	c.(940-942)tCa>tTa	p.S314L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	314					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)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GCTACCTGATGATATGTTTTT	0.378																																																	0													121	121	121					3																	113187200		2203	4300	6503	SO:0001583	missense	152185			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.941C>T	3.37:g.113187200G>A	ENSP00000295872:p.Ser314Leu		D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.S314L	ENST00000295872.4	37	c.941	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	A	2.096	-0.407130	0.04832	.	.	ENSG00000163611	ENST00000295872	T	0.31510	1.49	5.31	1.59	0.23543	.	0.463200	0.20909	N	0.083501	T	0.12263	0.0298	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32295	-0.9912	10	0.14656	T	0.56	-1.7426	9.5717	0.39431	0.5717:0.0:0.4283:0.0	.	210;314	B3KX77;Q8N0Z3	.;SPICE_HUMAN	L	314	ENSP00000295872:S314L	ENSP00000295872:S314L	S	-	2	0	SPICE1	114669890	0.000000	0.05858	0.001000	0.08648	0.272000	0.26649	0.824000	0.27379	0.037000	0.15575	-0.556000	0.04195	TCA	SPICE1	-	NULL		0.378	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	G	NM_144718		113187200	-1	no_errors	ENST00000295872	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113187200	G	A	113187200	3	1	144	1	0	0	0	0	1	0	0	0	2827	1294	45	1	1662	1	CCDC52	3	113187200	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	44015696	113187200	84835230	15	23183										
KBTBD12	166348	genome.wustl.edu	37	chr3	127642964	127642964	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gacaaaagaacaagaatgttGaaatttataggtttgtatct	8	3	1	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:127642964G>C	ENST00000405109.1	+	2	1527	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.E354Q|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	354										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CAAGAATGTTGAAATTTATAG	0.338																																																	0													67	65	65					3																	127642964		1827	4079	5906	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1060G>C	3.37:g.127642964G>C	ENSP00000385957:p.Glu354Gln		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E354Q	ENST00000405109.1	37	c.1060	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425737	0.62733	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.67865	-0.29;-0.29	5.62	5.62	0.85841	Kelch-type beta propeller (1);	.	.	.	.	T	0.79975	0.4539	M	0.63843	1.955	0.58432	D	0.999996	D	0.89917	1.0	D	0.63488	0.915	T	0.80301	-0.1440	9	0.66056	D	0.02	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	354	Q3ZCT8	KBTBC_HUMAN	Q	354	ENSP00000385957:E354Q;ENSP00000385879:E354Q	ENSP00000385957:E354Q	E	+	1	0	KBTBD12	129125654	1.000000	0.71417	0.997000	0.53966	0.524000	0.34500	9.322000	0.96357	2.810000	0.96702	0.585000	0.79938	GAA	KBTBD12	-	pirsf_Kelch-like_gigaxonin		0.338	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	G	NM_207335		127642964	1	no_errors	ENST00000405109	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127642964	G	C	127642964	3	2	144	1	0	0	0	0	1	0	0	0	8011	1291	45	1	1062	1	KBTBD12	3	127642964	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	14455764	127642964	70379466	16	23184										
COPB2	9276	genome.wustl.edu	37	chr3	139077085	139077085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gggaggccacaataaccggaGtaggagaagcaggtttccca	14	9	0	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:139077085G>A	ENST00000333188.5	-	21	2763	c.2582C>T	c.(2581-2583)aCt>aTt	p.T861I	COPB2_ENST00000507777.1_Missense_Mutation_p.T832I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	861					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AATAACCGGAGTAGGAGAAGC	0.438																																																	0													124	106	112					3																	139077085		2203	4300	6503	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2582C>T	3.37:g.139077085G>A	ENSP00000329419:p.Thr861Ile		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T861I	ENST00000333188.5	37	c.2582	CCDS3108.1	3	.	.	.	.	.	.	.	.	.	.	g	10.11	1.260499	0.23051	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.62639	0.01;0.11	4.77	2.92	0.33932	.	0.919055	0.09471	N	0.797678	T	0.43897	0.1268	N	0.17082	0.46	0.19945	N	0.999944	B	0.18968	0.032	B	0.21360	0.034	T	0.32214	-0.9915	10	0.37606	T	0.19	-19.1544	5.7983	0.18399	0.0982:0.0:0.7124:0.1893	.	861	P35606	COPB2_HUMAN	I	861;832	ENSP00000329419:T861I;ENSP00000422295:T832I	ENSP00000329419:T861I	T	-	2	0	COPB2	140559775	0.991000	0.36638	0.169000	0.22859	0.891000	0.51852	1.129000	0.31381	0.582000	0.29556	-0.127000	0.14921	ACT	COPB2	-	pirsf_Coatomer_b'su		0.438	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	G	NM_004766		139077085	-1	no_errors	ENST00000333188	ensembl	human	known	70_37	missense	SNP	0.787	A	A	139077085	G	A	139077085	3	1	144	1	0	0	0	0	1	0	0	0	3734	1029	36	4	146	4	COPB2	3	139077085	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	11434121	139077085	58945345	17	23185										
ARL14	80117	genome.wustl.edu	37	chr3	160395701	160395701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ggagacactttggcgttcttCaagcagaactgaggctgcga	13	9	2	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:160395701C>G	ENST00000320767.2	+	1	754	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	189					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TGGCGTTCTTCAAGCAGAACT	0.458																																																	0													38	40	39					3																	160395701		2203	4300	6503	SO:0001583	missense	80117			AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22974	protein-coding gene	gene with protein product		614439	"ADP-ribosylation factor 7"	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.567C>G	3.37:g.160395701C>G	ENSP00000323847:p.Phe189Leu		Q9H655	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F189L	ENST00000320767.2	37	c.567	CCDS3192.1	3	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570527	0.45798	.	.	ENSG00000179674	ENST00000320767	T	0.59502	0.26	5.23	4.36	0.52297	.	4.814600	0.01519	U	0.018284	T	0.45337	0.1337	N	0.14661	0.345	0.36570	D	0.87295	B	0.13594	0.008	B	0.10450	0.005	T	0.45116	-0.9283	10	0.72032	D	0.01	-12.9737	7.0252	0.24936	0.0:0.7463:0.0:0.2537	.	189	Q8N4G2	ARL14_HUMAN	L	189	ENSP00000323847:F189L	ENSP00000323847:F189L	F	+	3	2	ARL14	161878395	0.128000	0.22383	1.000000	0.80357	0.773000	0.43773	-0.042000	0.12063	1.433000	0.47394	0.563000	0.77884	TTC	ARL14	-	NULL		0.458	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14	HGNC	protein_coding	OTTHUMT00000352958.1	C	NM_025047		160395701	1	no_errors	ENST00000320767	ensembl	human	known	70_37	missense	SNP	1.000	G	G	160395701	C	G	160395701	3	3	144	1	0	0	0	0	1	0	0	0	930	825	29	1	569	1	ARL14	3	160395701	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	21318616	160395701	37626729	18	23186										
SLC7A14	57709	genome.wustl.edu	37	chr3	170216629	170216629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	aatgatggtcacgatgaccgCgatcaacagagccagaaggt	12	9	2	4			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr3:170216629C>T	ENST00000231706.5	-	4	901	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	196					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACGATGACCGCGATCAACAGA	0.468																																																	0													133	110	118					3																	170216629		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.586G>A	3.37:g.170216629C>T	ENSP00000231706:p.Ala196Thr		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.A196T	ENST00000231706.5	37	c.586	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413039	0.25465	.	.	ENSG00000013293	ENST00000231706	D	0.89415	-2.51	5.78	5.78	0.91487	Amino acid permease domain (1);	0.098469	0.64402	D	0.000002	T	0.70116	0.3187	N	0.00811	-1.165	0.54753	D	0.999987	P	0.39404	0.672	B	0.31812	0.136	T	0.75169	-0.3412	10	0.19147	T	0.46	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	196	Q8TBB6	S7A14_HUMAN	T	196	ENSP00000231706:A196T	ENSP00000231706:A196T	A	-	1	0	SLC7A14	171699323	1.000000	0.71417	0.379000	0.26080	0.160000	0.22226	6.051000	0.71072	2.730000	0.93505	0.655000	0.94253	GCG	SLC7A14	-	pfam_AA-permease_dom		0.468	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170216629	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	0.996	T	T	170216629	C	T	170216629	3	4	144	1	0	0	0	0	1	0	0	0	14726	768	27	2	1749	2	SLC7A14	3	170216629	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	9820928	170216629	27805801	19	23187										
PROM1	8842	genome.wustl.edu	37	chr4	16002130	16002130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	catatttacccggaataattCcttgctcgtgtaaggttcac	7	10	1	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr4:16002130C>T	ENST00000510224.1	-	14	1815	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	PROM1_ENST00000447510.2_Missense_Mutation_p.E523K|PROM1_ENST00000539194.1_Missense_Mutation_p.E523K|PROM1_ENST00000505450.1_Missense_Mutation_p.E514K|PROM1_ENST00000508167.1_Missense_Mutation_p.E514K|PROM1_ENST00000543373.1_Missense_Mutation_p.E514K|PROM1_ENST00000540805.1_Missense_Mutation_p.E523K			O43490	PROM1_HUMAN	prominin 1	523					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CGGAATAATTCCTTGCTCGTG	0.358																																																	0													77	70	72					4																	16002130		1832	4091	5923	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1567G>A	4.37:g.16002130C>T	ENSP00000426809:p.Glu523Lys		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	pfam_Prominin	p.E523K	ENST00000510224.1	37	c.1567	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.090808	0.00367	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.31	2.68	0.31781	.	0.507943	0.22886	N	0.054450	T	0.13457	0.0326	N	0.01015	-1.05	0.09310	N	1	B;B;B;B;B;B	0.14012	0.007;0.007;0.007;0.007;0.008;0.009	B;B;B;B;B;B	0.17098	0.01;0.01;0.01;0.01;0.002;0.017	T	0.26710	-1.0095	10	0.18276	T	0.48	-20.2856	7.654	0.28365	0.0:0.289:0.0:0.711	.	514;523;514;523;514;523	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	K	523;523;523;514;514;523;514	ENSP00000415481:E523K;ENSP00000438045:E523K;ENSP00000443620:E523K;ENSP00000426090:E514K;ENSP00000427346:E514K;ENSP00000426809:E523K;ENSP00000445526:E514K	ENSP00000415481:E523K	E	-	1	0	PROM1	15611228	0.598000	0.26882	0.008000	0.14137	0.003000	0.03518	0.623000	0.24447	0.748000	0.32831	-0.355000	0.07637	GAA	PROM1	-	pfam_Prominin		0.358	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	C	NM_006017		16002130	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	missense	SNP	0.015	T	T	16002130	C	T	16002130	3	4	144	1	0	0	0	0	1	0	0	0	12582	864	30	1	1086	1	PROM1	4	16002130	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		16002130	175152146	20	23188										
FAT4	79633	genome.wustl.edu	37	chr4	126369917	126369917	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tttcctgaaaaccaaccagtCagctctcttgtcaccaccat	4	15	3	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr4:126369917C>T	ENST00000394329.3	+	9	7759	c.7746C>T	c.(7744-7746)gtC>gtT	p.V2582V	FAT4_ENST00000335110.5_Silent_p.V880V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2582	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCAACCAGTCAGCTCTCTTG	0.418																																																	0													64	62	62					4																	126369917		2203	4299	6502	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7746C>T	4.37:g.126369917C>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2582	ENST00000394329.3	37	c.7746	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126369917	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.000	T	T	126369917	C	T	126369917	2	4	144	1	0	0	0	0	0	0	0	1	5710	813	29	1		1	FAT4	4	126369917	Silent	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	110367787	126369917	64784359	21	23189										
ZNF622	90441	genome.wustl.edu	37	chr5	16465736	16465736	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cgctgcatgtccgcgtcgcgGaacgccacccggcaagttat	12	15	0	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr5:16465736G>A	ENST00000308683.2	-	1	165	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	13					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCGCGTCGCGGAACGCCACCC	0.642																																																	0													34	37	36					5																	16465736		2202	4298	6500	SO:0001819	synonymous_variant	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.39C>T	5.37:g.16465736G>A				Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.F13	ENST00000308683.2	37	c.39	CCDS3886.1	5																																																																																			ZNF622	-	smart_Znf_U1,smart_Znf_C2H2-like		0.642	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	HGNC	protein_coding	OTTHUMT00000207105.1	G	NM_033414		16465736	-1	no_errors	ENST00000308683	ensembl	human	known	70_37	silent	SNP	0.941	A	A	16465736	G	A	16465736	2	1	144	1	0	0	0	0	0	0	0	1	18076	1165	41	1		1	ZNF622	5	16465736	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		16465736	164449524	22	23190										
TGFBI	7045	genome.wustl.edu	37	chr5	135382658	135382658	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	acacggcatgaccctcacctCtatgtaccagaattccaaca	5	15	2	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr5:135382658C>G	ENST00000442011.2	+	5	739	c.578C>G	c.(577-579)tCt>tGt	p.S193C	TGFBI_ENST00000305126.8_Missense_Mutation_p.S193C	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	193	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCCTCACCTCTATGTACCAG	0.522																																																	0													60	60	60					5																	135382658		2053	4213	6266	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.578C>G	5.37:g.135382658C>G	ENSP00000416330:p.Ser193Cys		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.S193C	ENST00000442011.2	37	c.578	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667438	0.88348	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.92647	-3.08;-3.08	5.55	5.55	0.83447	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97992	1.0355	10	0.87932	D	0	-13.0287	19.5213	0.95185	0.0:1.0:0.0:0.0	.	193	Q15582	BGH3_HUMAN	C	193	ENSP00000416330:S193C;ENSP00000306306:S193C	ENSP00000306306:S193C	S	+	2	0	TGFBI	135410557	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.818000	0.86416	2.610000	0.88304	0.555000	0.69702	TCT	TGFBI	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.522	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	C			135382658	1	no_errors	ENST00000305126	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135382658	C	G	135382658	3	3	144	1	0	0	0	0	1	0	0	0	15850	913	32	1	596	1	TGFBI	5	135382658	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	118916922	135382658	45532602	23	23191										
KIAA1586	57691	genome.wustl.edu	37	chr6	56917955	56917955	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ctaaagcccatggtaaaattCaggatttgttaaaggaatca	8	6	2	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr6:56917955C>T	ENST00000370733.4	+	4	865	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	KIAA1586_ENST00000545356.1_Nonsense_Mutation_p.Q193*	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	220							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGTAAAATTCAGGATTTGTT	0.284																																																	0													40	44	43					6																	56917955		2200	4297	6497	SO:0001587	stop_gained	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.658C>T	6.37:g.56917955C>T	ENSP00000359768:p.Gln220*		A8K4M3|Q8IW25	Nonsense_Mutation	SNP	superfamily_RNaseH-like_dom	p.Q220*	ENST00000370733.4	37	c.658	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	c	9.333	1.061125	0.19987	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	.	.	.	4.07	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	4.4881	0.11799	0.2813:0.6027:0.0:0.116	.	.	.	.	X	220;193	.	ENSP00000359768:Q220X	Q	+	1	0	KIAA1586	57025914	1.000000	0.71417	0.981000	0.43875	0.009000	0.06853	0.376000	0.20535	0.342000	0.23796	-0.373000	0.07131	CAG	KIAA1586	-	NULL		0.284	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	C	NM_020931		56917955	1	no_errors	ENST00000370733	ensembl	human	known	70_37	nonsense	SNP	0.991	T	T	56917955	C	T	56917955	4	4	144	1	0	0	0	0	0	1	0	0	8265	827	29	1	672	1	KIAA1586	6	56917955	Nonsense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		56917955	114197112	24	23192										
ARHGEF5	7984	genome.wustl.edu	37	chr7	144059772	144059772	+	Missense_Mutation	SNP	G	G	A													0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	attcagccctgatggaggctGaggaggcccagcgtggagcc							TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr7:144059772G>A	ENST00000056217.5	+	2	184	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	4					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GATGGAGGCTGAGGAGGCCCA	0.502																																																	0													41	49	46					7																	144059772		1496	3159	4655	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.10G>A	7.37:g.144059772G>A	ENSP00000056217:p.Glu4Lys		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E4K	ENST00000056217.5	37	c.10	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320308	0.41096	.	.	ENSG00000050327	ENST00000498580;ENST00000056217	T	0.80653	-1.4	4.16	4.16	0.48862	.	0.215021	0.22811	U	0.055347	T	0.72431	0.3459	L	0.54323	1.7	0.80722	D	1	P	0.39181	0.663	B	0.29524	0.103	T	0.77568	-0.2539	10	0.87932	D	0	-13.2822	11.8195	0.52230	0.0:0.0:1.0:0.0	.	4	Q12774	ARHG5_HUMAN	K	4	ENSP00000056217:E4K	ENSP00000056217:E4K	E	+	1	0	ARHGEF5	143690705	1.000000	0.71417	0.995000	0.50966	0.062000	0.15995	3.027000	0.49697	2.156000	0.67533	0.650000	0.86243	GAG	ARHGEF5	-	NULL		0.502	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	G	NM_005435		144059772	1	no_errors	ENST00000056217	ensembl	human	known	70_37	missense	SNP	0.995	A	A	144059772	G	A	144059772	3	1	144	1	0	0	0	0	1	0	0	0	909	1291	45	1	12	1	ARHGEF5	7	144059772	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		144059772	15078891	25	23193	127	2								
ARHGEF5	7984	genome.wustl.edu	37	chr7	144059775	144059775	+	Missense_Mutation	SNP	G	G	A													0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cagccctgatggaggctgagGaggcccagcgtggagcctct							TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr7:144059775G>A	ENST00000056217.5	+	2	187	c.13G>A	c.(13-15)Gag>Aag	p.E5K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	5					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGAGGCTGAGGAGGCCCAGCG	0.507																																																	0													50	59	56					7																	144059775		1499	3159	4658	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.13G>A	7.37:g.144059775G>A	ENSP00000056217:p.Glu5Lys		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E5K	ENST00000056217.5	37	c.13	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572668	0.28092	.	.	ENSG00000050327	ENST00000498580;ENST00000056217	T	0.79845	-1.31	4.16	3.24	0.37175	.	0.000000	0.36268	U	0.002696	T	0.77315	0.4112	L	0.54323	1.7	0.80722	D	1	D	0.52996	0.957	P	0.47346	0.544	T	0.79162	-0.1917	10	0.87932	D	0	-20.0407	8.0598	0.30627	0.1166:0.0:0.8834:0.0	.	5	Q12774	ARHG5_HUMAN	K	5	ENSP00000056217:E5K	ENSP00000056217:E5K	E	+	1	0	ARHGEF5	143690708	0.993000	0.37304	0.996000	0.52242	0.064000	0.16182	2.169000	0.42434	2.156000	0.67533	0.650000	0.86243	GAG	ARHGEF5	-	NULL		0.507	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	G	NM_005435		144059775	1	no_errors	ENST00000056217	ensembl	human	known	70_37	missense	SNP	0.986	A	A	144059775	G	A	144059775	3	1	144	1	0	0	0	0	1	0	0	0	909	1175	41	1	15	1	ARHGEF5	7	144059775	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	3	144059775	15078888	26	23194	127	2								
FAM120A	23196	genome.wustl.edu	37	chr9	96320970	96320970	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gcggagccttctcaggcagtGacagcagcaggactagcaag	14	11	1	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr9:96320970G>C	ENST00000277165.6	+	15	2970	c.2776G>C	c.(2776-2778)Gac>Cac	p.D926H	FAM120A_ENST00000333936.5_Missense_Mutation_p.D954H|FAM120A_ENST00000340893.4_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	926	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCAGGCAGTGACAGCAGCAG	0.612																																																	0													57	55	56					9																	96320970		2203	4300	6503	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2776G>C	9.37:g.96320970G>C	ENSP00000277165:p.Asp926His		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.D954H	ENST00000277165.6	37	c.2860	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558476	0.65538	.	.	ENSG00000048828	ENST00000277165;ENST00000333936	T;T	0.31769	1.49;1.48	5.67	4.77	0.60923	.	0.080841	0.52532	D	0.000066	T	0.38746	0.1052	N	0.22421	0.69	0.80722	D	1	D;B	0.89917	1.0;0.047	D;B	0.85130	0.997;0.033	T	0.11179	-1.0598	10	0.13853	T	0.58	-15.3885	15.0483	0.71844	0.0:0.1416:0.8584:0.0	.	954;926	Q9NZB2-6;Q9NZB2	.;F120A_HUMAN	H	926;954	ENSP00000277165:D926H;ENSP00000334918:D954H	ENSP00000277165:D926H	D	+	1	0	FAM120A	95360791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	1.387000	0.46486	0.655000	0.94253	GAC	FAM120A	-	NULL		0.612	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	G	NM_014612		96320970	1	no_errors	ENST00000333936	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96320970	G	C	96320970	3	2	144	1	0	0	0	0	1	0	0	0	5430	1290	45	1	2834	1	FAM120A	9	96320970	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		96320970	44892461	27	23195										
PRKCQ	5588	genome.wustl.edu	37	chr10	6525506	6525506	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gttcagttcaggttctggaaGatggcacattttatccacct	9	9	3	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr10:6525506G>C	ENST00000263125.5	-	11	1174	c.1075C>G	c.(1075-1077)Ctt>Gtt	p.L359V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.L234V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.L359V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	359					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GGTTCTGGAAGATGGCACATT	0.413																																					Ovarian(50;572 1126 10530 25349 30594)												0													129	123	125					10																	6525506		2203	4300	6503	SO:0001583	missense	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1075C>G	10.37:g.6525506G>C	ENSP00000263125:p.Leu359Val		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L359V	ENST00000263125.5	37	c.1075	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.885|7.885	0.731000|0.731000	0.15507|0.15507	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.68479	.|-0.33;-0.29;-0.33	5.24|5.24	3.24|3.24	0.37175|0.37175	.|.	.|2.319440	.|0.01482	.|N	.|0.016729	T|T	0.59376|0.59376	0.2189|0.2189	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.18968	.|0.001;0.032;0.016;0.003	.|B;B;B;B	.|0.16289	.|0.003;0.013;0.015;0.006	T|T	0.47611|0.47611	-0.9104|-0.9104	5|10	.|0.29301	.|T	.|0.29	.|.	15.0356|15.0356	0.71744|0.71744	0.0:0.2697:0.7303:0.0|0.0:0.2697:0.7303:0.0	.|.	.|234;131;359;359	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	M|V	131|359;359;234	.|ENSP00000263125:L359V;ENSP00000380361:L359V;ENSP00000441752:L234V	.|ENSP00000263125:L359V	I|L	-|-	3|1	3|0	PRKCQ|PRKCQ	6565512|6565512	0.400000|0.400000	0.25295|0.25295	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	3.542000|3.542000	0.53625|0.53625	1.179000|1.179000	0.42884|0.42884	-0.182000|-0.182000	0.12963|0.12963	ATC|CTT	PRKCQ	-	pirsf_Prot_kin_PKC_delta		0.413	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	G	NM_006257		6525506	-1	no_errors	ENST00000263125	ensembl	human	known	70_37	missense	SNP	0.019	C	C	6525506	G	C	6525506	3	2	144	1	0	0	0	0	1	0	0	0	12542	942	33	1	1077	1	PRKCQ	10	6525506	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		6525506	129009241	28	23196										
CUBN	8029	genome.wustl.edu	37	chr10	16949583	16949583	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tccgtgaaaaaaatgactttCattgtgtttcctgaagattt	7	6	1	4			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr10:16949583C>T	ENST00000377833.4	-	49	7694	c.7629G>A	c.(7627-7629)atG>atA	p.M2543I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2543	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATGACTTTCATTGTGTTTC	0.413																																																	0													107	89	95					10																	16949583		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7629G>A	10.37:g.16949583C>T	ENSP00000367064:p.Met2543Ile		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.M2543I	ENST00000377833.4	37	c.7629	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130340	0.56721	.	.	ENSG00000107611	ENST00000377833	T	0.19250	2.16	5.38	5.38	0.77491	CUB (5);	0.000000	0.56097	D	0.000022	T	0.35098	0.0920	M	0.76328	2.33	0.80722	D	1	P	0.48407	0.91	P	0.49999	0.628	T	0.03840	-1.0999	10	0.38643	T	0.18	.	13.7761	0.63055	0.0:0.9262:0.0:0.0738	.	2543	O60494	CUBN_HUMAN	I	2543	ENSP00000367064:M2543I	ENSP00000367064:M2543I	M	-	3	0	CUBN	16989589	1.000000	0.71417	0.996000	0.52242	0.198000	0.23893	4.236000	0.58675	2.672000	0.90937	0.650000	0.86243	ATG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16949583	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16949583	C	T	16949583	3	4	144	1	0	0	0	0	1	0	0	0	4056	826	29	1	3318	1	CUBN	10	16949583	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	10424077	16949583	118585164	29	23197										
SFTPA2	729238	genome.wustl.edu	37	chr10	81319157	81319157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tgccggggataccagggcttCcaacacaaacgtccttcact	9	14	1	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr10:81319157C>G	ENST00000372325.2	-	3	167	c.83G>C	c.(82-84)gGa>gCa	p.G28A	SFTPA2_ENST00000372327.5_Missense_Mutation_p.G28A	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	28	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCAGGGCTTCCAACACAAAC	0.632									Pulmonary Fibrosis, Idiopathic																																								0													163	143	150					10																	81319157		2203	4296	6499	SO:0001583	missense	729238	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.83G>C	10.37:g.81319157C>G	ENSP00000361400:p.Gly28Ala		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G28A	ENST00000372325.2	37	c.83	CCDS41540.1	10	.	.	.	.	.	.	.	.	.	.	N	6.139	0.393854	0.11638	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.99329	-5.75;-5.75;-5.75	2.78	0.419	0.16438	.	0.253832	0.27971	N	0.017112	D	0.97009	0.9023	L	0.41492	1.28	0.09310	N	1	B	0.20887	0.049	B	0.25291	0.059	D	0.94117	0.7376	10	0.46703	T	0.11	-6.3453	8.0746	0.30710	0.0:0.5034:0.4966:0.0	.	28	E3VLC8	.	A	28;43;28;28	ENSP00000361400:G28A;ENSP00000361402:G28A;ENSP00000397375:G28A	ENSP00000361400:G28A	G	-	2	0	SFTPA2	80989163	0.000000	0.05858	0.084000	0.20598	0.431000	0.31685	-0.025000	0.12413	0.252000	0.21531	0.536000	0.68110	GGA	SFTPA2	-	pfam_Collagen		0.632	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SFTPA2	HGNC	protein_coding	OTTHUMT00000048961.1	C	NM_001098668		81319157	-1	no_errors	ENST00000372325	ensembl	human	known	70_37	missense	SNP	0.079	G	G	81319157	C	G	81319157	3	3	144	1	0	0	0	0	1	0	0	0	14220	855	30	1	679	1	SFTPA2	10	81319157	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	64369574	81319157	54215590	30	23198										
TUT1	64852	genome.wustl.edu	37	chr11	62344739	62344739	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	agctcagagcagagactcagGaaacgggagttatgcagggc	15	8	2	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr11:62344739G>A	ENST00000476907.1	-	6	1876	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Silent_p.F433F|MIR3654_ENST00000496634.2_Silent_p.F395F			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	395					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGAGACTCAGGAAACGGGAGT	0.602																																																	0													66	65	65					11																	62344739		2202	4299	6501	SO:0001819	synonymous_variant	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1185C>T	11.37:g.62344739G>A			A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F433	ENST00000476907.1	37	c.1299		11																																																																																			TUT1	-	NULL		0.602	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	G	NM_022830		62344739	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62344739	G	A	62344739	2	1	144	1	0	0	0	0	0	0	0	1	16811	1165	41	1		1	TUT1	11	62344739	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		62344739	72661777	31	23199										
MAP4K2	5871	genome.wustl.edu	37	chr11	64559459	64559459	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gacgcggcagccgggcccctCaggcccctcggccccaacac	12	21	1	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr11:64559459C>G	ENST00000294066.2	-	27	2105	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E664Q	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	672	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCGGGCCCCTCAGGCCCCTCG	0.692																																																	0													10	13	12					11																	64559459		2167	4259	6426	SO:0001583	missense	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2014G>C	11.37:g.64559459C>G	ENSP00000294066:p.Glu672Gln		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E672Q	ENST00000294066.2	37	c.2014	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014959	0.35511	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.70164	-0.44;-0.46	4.72	4.72	0.59763	Citron-like (3);	0.713791	0.13476	N	0.385062	T	0.46210	0.1381	N	0.14661	0.345	0.33004	D	0.526675	P;B	0.41748	0.761;0.037	B;B	0.36534	0.227;0.02	T	0.50955	-0.8766	10	0.12430	T	0.62	.	13.2144	0.59851	0.0:1.0:0.0:0.0	.	664;672	Q86VU3;Q12851	.;M4K2_HUMAN	Q	672;664	ENSP00000294066:E672Q;ENSP00000366567:E664Q	ENSP00000294066:E672Q	E	-	1	0	MAP4K2	64316035	0.990000	0.36364	0.928000	0.36995	0.901000	0.52897	3.372000	0.52387	2.187000	0.69744	0.456000	0.33151	GAG	MAP4K2	-	pfam_Citron,smart_Citron		0.692	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	C	NM_004579		64559459	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	missense	SNP	0.993	G	G	64559459	C	G	64559459	3	3	144	1	0	0	0	0	1	0	0	0	9283	835	29	1	472	1	MAP4K2	11	64559459	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	2214720	64559459	70447057	32	23200										
EHBP1L1	254102	genome.wustl.edu	37	chr11	65351108	65351108	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tgggaaatgagaaggggaaaGaagctgagggaagcctcaca	16	5	1	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr11:65351108G>C	ENST00000309295.4	+	9	3230	c.2965G>C	c.(2965-2967)Gaa>Caa	p.E989Q		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	989						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAAGGGGAAAGAAGCTGAGGG	0.587																																																	0													13	14	14					11																	65351108		1849	4096	5945	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2965G>C	11.37:g.65351108G>C	ENSP00000312671:p.Glu989Gln		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E989Q	ENST00000309295.4	37	c.2965	CCDS44649.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.405|7.405	0.633560|0.633560	0.14322|0.14322	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295|ENST00000533465	T|.	0.71698|.	-0.59|.	5.15|5.15	3.15|3.15	0.36227|0.36227	.|.	0.768039|.	0.11162|.	N|.	0.593005|.	T|T	0.34019|0.34019	0.0883|0.0883	L|L	0.32530|0.32530	0.975|0.975	0.25737|0.25737	N|N	0.985207|0.985207	B|.	0.18461|.	0.028|.	B|.	0.14578|.	0.011|.	T|T	0.18935|0.18935	-1.0321|-1.0321	10|5	0.51188|.	T|.	0.08|.	.|.	8.1511|8.1511	0.31141|0.31141	0.0901:0.1601:0.7498:0.0|0.0901:0.1601:0.7498:0.0	.|.	989|.	Q8N3D4|.	EH1L1_HUMAN|.	Q|T	989|38	ENSP00000312671:E989Q|.	ENSP00000312671:E989Q|.	E|R	+|+	1|2	0|0	EHBP1L1|EHBP1L1	65107684|65107684	0.012000|0.012000	0.17670|0.17670	0.051000|0.051000	0.19133|0.19133	0.160000|0.160000	0.22226|0.22226	1.332000|1.332000	0.33805|0.33805	1.165000|1.165000	0.42670|0.42670	-0.436000|-0.436000	0.05848|0.05848	GAA|AGA	EHBP1L1	-	NULL		0.587	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	G	XM_170658		65351108	1	no_errors	ENST00000309295	ensembl	human	known	70_37	missense	SNP	0.065	C	C	65351108	G	C	65351108	3	2	144	1	0	0	0	0	1	0	0	0	4986	943	33	1	2999	1	EHBP1L1	11	65351108	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	791649	65351108	69655408	33	23201										
C11orf82	220042	genome.wustl.edu	37	chr11	82643346	82643346	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ggcttacaagctaaggagctGagtgcagttcacagcagtca	12	9	2	1	rs374066836		TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr11:82643346G>C	ENST00000533655.1	+	6	1178	c.966G>C	c.(964-966)ctG>ctC	p.L322L	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.L322L|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Silent_p.L21L	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		322					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTAAGGAGCTGAGTGCAGTTC	0.388																																																	0								G		0,4406		0,0,2203	83	86	85		966	1.4	0	11		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C11orf82	NM_145018.3		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		322/999	82643346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	220042																														ENST00000533655.1:c.966G>C	11.37:g.82643346G>C			Q96LK6|Q9H856	Silent	SNP	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	p.L322	ENST00000533655.1	37	c.966	CCDS8263.1	11																																																																																			C11orf82	-	NULL		0.388	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	G			82643346	1	no_errors	ENST00000430323	ensembl	human	known	70_37	silent	SNP	0.001	C	C	82643346	G	C	82643346	2	2	144	1	0	0	0	0	0	0	0	1	1669	1277	45	1		1	C11orf82	11	82643346	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	17292238	82643346	52363170	34	23202										
C11orf53	341032	genome.wustl.edu	37	chr11	111156759	111156759	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gtattgcctgggggtcatatGaatgccgcagagcttattga	13	7	1	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr11:111156759G>C	ENST00000280325.4	+	4	838	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	231										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGGGTCATATGAATGCCGCAG	0.512																																																	0													66	69	68					11																	111156759		2201	4297	6498	SO:0001583	missense	341032			BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.691G>C	11.37:g.111156759G>C	ENSP00000280325:p.Glu231Gln			Missense_Mutation	SNP	NULL	p.E231Q	ENST00000280325.4	37	c.691	CCDS31674.1	11	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409520	0.62399	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.08	5.08	0.68730	.	0.210244	0.39475	N	0.001342	T	0.78298	0.4261	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.81011	-0.1126	9	0.87932	D	0	-24.8548	15.988	0.80176	0.0:0.0:1.0:0.0	.	231	Q8IXP5	CK053_HUMAN	Q	231	.	ENSP00000280325:E231Q	E	+	1	0	C11orf53	110661969	1.000000	0.71417	0.300000	0.25030	0.384000	0.30261	7.269000	0.78482	2.365000	0.80145	0.655000	0.94253	GAA	C11orf53	-	NULL		0.512	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf53	HGNC	protein_coding	OTTHUMT00000390989.1	G	NM_198498		111156759	1	no_errors	ENST00000280325	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111156759	G	C	111156759	3	2	144	1	0	0	0	0	1	0	0	0	1652	1291	45	1	701	1	C11orf53	11	111156759	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	28513413	111156759	23849757	35	23203										
ALDH1L2	160428	genome.wustl.edu	37	chr12	105433521	105433521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tctgtttgccaataggagtgGatccagtgaaaccaagtttg	11	7	1	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr12:105433521G>C	ENST00000258494.9	-	17	2155	c.2015C>G	c.(2014-2016)tCc>tGc	p.S672C	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	672	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AATAGGAGTGGATCCAGTGAA	0.388																																																	0													171	157	162					12																	105433521		2203	4300	6503	SO:0001583	missense	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2015C>G	12.37:g.105433521G>C	ENSP00000258494:p.Ser672Cys		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.S672C	ENST00000258494.9	37	c.2015	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843284	0.91197	.	.	ENSG00000136010	ENST00000258494	D	0.84589	-1.87	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98419	1.0576	10	0.87932	D	0	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	672	Q3SY69	AL1L2_HUMAN	C	672	ENSP00000258494:S672C	ENSP00000258494:S672C	S	-	2	0	ALDH1L2	103957651	1.000000	0.71417	0.880000	0.34516	0.952000	0.60782	9.776000	0.99001	2.683000	0.91414	0.650000	0.86243	TCC	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH		0.388	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	G	XM_090294		105433521	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105433521	G	C	105433521	3	2	144	1	0	0	0	0	1	0	0	0	495	1174	41	1	784	1	ALDH1L2	12	105433521	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		105433521	28418374	36	23204										
ZFYVE1	53349	genome.wustl.edu	37	chr14	73444865	73444865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ccagaccaggcatattttgcGagacccatccagggggagtc	12	12	0	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr14:73444865G>A	ENST00000556143.1	-	7	2217	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	ZFYVE1_ENST00000394207.2_Silent_p.L84L|ZFYVE1_ENST00000318876.5_Silent_p.L499L|ZFYVE1_ENST00000554145.1_Intron|ZFYVE1_ENST00000553891.1_Silent_p.L499L|ZFYVE1_ENST00000555072.1_Silent_p.L84L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	499					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CATATTTTGCGAGACCCATCC	0.507																																																	0													120	115	117					14																	73444865		2203	4300	6503	SO:0001819	synonymous_variant	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1497C>T	14.37:g.73444865G>A			J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L499	ENST00000556143.1	37	c.1497	CCDS9811.1	14																																																																																			ZFYVE1	-	superfamily_Growth_fac_rcpt		0.507	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	G	NM_021260		73444865	-1	no_errors	ENST00000553891	ensembl	human	known	70_37	silent	SNP	0.292	A	A	73444865	G	A	73444865	2	1	144	1	0	0	0	0	0	0	0	1	17693	1045	37	1		1	ZFYVE1	14	73444865	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		73444865	33904675	37	23205										
GPR68	8111	genome.wustl.edu	37	chr14	91701059	91701059	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cggtccacggagatgcagcaGaggaagcccacgctgatgta	14	11	0	3			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr14:91701059G>C	ENST00000531499.2	-	2	675	c.336C>G	c.(334-336)ctC>ctG	p.L112L	GPR68_ENST00000238699.3_Silent_p.L122L|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Silent_p.L112L			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	112					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGATGCAGCAGAGGAAGCCCA	0.627																																																	0													68	53	58					14																	91701059		2203	4300	6503	SO:0001819	synonymous_variant	8111			U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.336C>G	14.37:g.91701059G>C			Q13334|Q4VBB4|Q6IX34	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.L122	ENST00000531499.2	37	c.366	CCDS9894.2	14																																																																																			GPR68	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	G			91701059	-1	no_errors	ENST00000238699	ensembl	human	known	70_37	silent	SNP	1.000	C	C	91701059	G	C	91701059	2	2	144	1	0	0	0	0	0	0	0	1	6726	929	33	1		1	GPR68	14	91701059	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	18256194	91701059	15648481	38	23206										
TP53BP1	7158	genome.wustl.edu	37	chr15	43784623	43784623	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	caaggagtatcttgctgagaGaaatctgaatccaactgact	9	8	2	4			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr15:43784623G>A	ENST00000263801.3	-	2	288	c.36C>T	c.(34-36)ttC>ttT	p.F12F	TP53BP1_ENST00000382039.3_Silent_p.F17F|TP53BP1_ENST00000450115.2_Silent_p.F17F|TP53BP1_ENST00000382044.4_Silent_p.F17F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	12					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTGCTGAGAGAAATCTGAAT	0.458								Other conserved DNA damage response genes																																									0													130	127	128					15																	43784623		2201	4298	6499	SO:0001819	synonymous_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.36C>T	15.37:g.43784623G>A			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.F17	ENST00000263801.3	37	c.51	CCDS10096.1	15																																																																																			TP53BP1	-	NULL		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	G			43784623	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43784623	G	A	43784623	2	1	144	1	0	0	0	0	0	0	0	1	16414	933	33	1		1	TP53BP1	15	43784623	Silent	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		43784623	58746769	39	23207										
USP8	9101	genome.wustl.edu	37	chr15	50741664	50741664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cgaagaagctgaaagactctCtgaaagccttaaattaaggt	9	7	1	4			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr15:50741664C>G	ENST00000396444.3	+	4	655	c.317C>G	c.(316-318)tCt>tGt	p.S106C	USP8_ENST00000433963.1_Missense_Mutation_p.S106C|USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Missense_Mutation_p.S106C	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	106	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAAAGACTCTCTGAAAGCCTT	0.269																																																	0													40	42	41					15																	50741664		2191	4289	6480	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.317C>G	15.37:g.50741664C>G	ENSP00000379721:p.Ser106Cys		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.S106C	ENST00000396444.3	37	c.317	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595591	0.86953	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179	T;T;T	0.21191	2.02;2.02;2.02	5.83	5.83	0.93111	Domain of unknown function DUF1873 (1);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35748	-0.9776	10	0.72032	D	0.01	-17.3622	20.1047	0.97888	0.0:1.0:0.0:0.0	.	106	P40818	UBP8_HUMAN	C	106	ENSP00000379721:S106C;ENSP00000405537:S106C;ENSP00000302239:S106C	ENSP00000302239:S106C	S	+	2	0	USP8	48528956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.823000	0.75282	2.762000	0.94881	0.655000	0.94253	TCT	USP8	-	pfam_DUF1873		0.269	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	C	NM_005154		50741664	1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50741664	C	G	50741664	3	3	144	1	0	0	0	0	1	0	0	0	17120	913	32	1	327	1	USP8	15	50741664	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	6957041	50741664	51789728	40	23208										
GNB5	10681	genome.wustl.edu	37	chr15	52427908	52427908	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ctgcagcagctgcccgctctCcacgtcccacagggcacatg	10	18	1	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr15:52427908C>G	ENST00000261837.7	-	8	738	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.E113Q|GNB5_ENST00000358784.7_Missense_Mutation_p.E183Q|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	225					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGCCCGCTCTCCACGTCCCAC	0.612																																																	0													79	76	77					15																	52427908		2195	4293	6488	SO:0001583	missense	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.673G>C	15.37:g.52427908C>G	ENSP00000261837:p.Glu225Gln		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.E225Q	ENST00000261837.7	37	c.673	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266590	0.80358	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.01379	4.96	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059206	0.64402	N	0.000003	T	0.05318	0.0141	L	0.46670	1.46	0.80722	D	1	B;D	0.55605	0.002;0.972	B;P	0.57846	0.005;0.828	T	0.42275	-0.9461	10	0.56958	D	0.05	-33.1081	19.1927	0.93674	0.0:1.0:0.0:0.0	.	225;113	O14775;O14775-3	GBB5_HUMAN;.	Q	225;183;23;113	ENSP00000261837:E225Q	ENSP00000261837:E225Q	E	-	1	0	GNB5	50215200	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.344000	0.79328	2.516000	0.84829	0.650000	0.86243	GAG	GNB5	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.612	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	C			52427908	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52427908	C	G	52427908	3	3	144	1	0	0	0	0	1	0	0	0	6540	864	30	1	538	1	GNB5	15	52427908	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	1686244	52427908	50103484	41	23209										
ATP2A1	487	genome.wustl.edu	37	chr16	28912104	28912104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cgatcgcgcctacacgggccGagagttcgacgacctgcccc	12	17	0	1	rs143704560		TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr16:28912104G>A	ENST00000357084.3	+	15	2234	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R531Q|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R656Q	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	656					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TACACGGGCCGAGAGTTCGAC	0.627																																																	0													80	68	72					16																	28912104		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1967G>A	16.37:g.28912104G>A	ENSP00000349595:p.Arg656Gln		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R656Q	ENST00000357084.3	37	c.1967	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.338798	0.95783	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99060	-5.38;-5.38;-5.38	5.4	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	L	0.41710	1.295	0.52099	D	0.999949	D;P;B	0.67145	0.996;0.573;0.323	P;B;B	0.54401	0.751;0.164;0.071	D	0.98243	1.0489	10	0.66056	D	0.02	.	13.2888	0.60258	0.0784:0.0:0.9216:0.0	.	531;656;656	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	656;656;693;531	ENSP00000349595:R656Q;ENSP00000378879:R656Q;ENSP00000443101:R531Q	ENSP00000349595:R656Q	R	+	2	0	ATP2A1	28819605	1.000000	0.71417	0.869000	0.34112	0.841000	0.47740	9.783000	0.99037	1.284000	0.44531	0.555000	0.69702	CGA	ATP2A1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp		0.627	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	G	NM_004320		28912104	1	no_errors	ENST00000357084	ensembl	human	known	70_37	missense	SNP	0.999	A	A	28912104	G	A	28912104	3	1	144	1	0	0	0	0	1	0	0	0	1137	1058	37	1	2025	1	ATP2A1	16	28912104	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		28912104	61442649	42	23210										
TMCO7	79613	genome.wustl.edu	37	chr16	68894388	68894388	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	ggtctgtgccaactgggattCtgcccaaccaaaagaaaact	9	11	2	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr16:68894388C>G	ENST00000261778.1	+	2	708	c.696C>G	c.(694-696)ttC>ttG	p.F232L		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	232						integral component of membrane (GO:0016021)											AACTGGGATTCTGCCCAACCA	0.463																																																	0													77	75	76					16																	68894388		1945	4143	6088	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.696C>G	16.37:g.68894388C>G	ENSP00000261778:p.Phe232Leu		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.F232L	ENST00000261778.1	37	c.696	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108048	0.77096	.	.	ENSG00000103047	ENST00000261778	T	0.62498	0.02	4.99	3.03	0.35002	.	.	.	.	.	T	0.72423	0.3458	M	0.63428	1.95	0.34081	D	0.659629	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	T	0.77859	-0.2431	9	0.48119	T	0.1	-7.8814	9.6337	0.39795	0.0:0.8268:0.0:0.1732	.	232;71	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	L	232	ENSP00000261778:F232L	ENSP00000261778:F232L	F	+	3	2	TMCO7	67451889	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.981000	0.29526	1.103000	0.41568	0.655000	0.94253	TTC	TMCO7	-	NULL		0.463	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	C	XM_928235.2		68894388	1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68894388	C	G	68894388	3	3	144	1	0	0	0	0	1	0	0	0	16031	912	32	1	702	1	TMCO7	16	68894388	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	39982284	68894388	21460365	43	23211										
RHBDL3	162494	genome.wustl.edu	37	chr17	30615838	30615838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	acaagcgttccaacagcttcCgccaagccatcctgcagggc	9	16	0	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr17:30615838C>T	ENST00000269051.4	+	4	336	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R100C|RHBDL3_ENST00000536287.1_Missense_Mutation_p.R10C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	108						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CAACAGCTTCCGCCAAGCCAT	0.632																																																	0													38	33	35					17																	30615838		2203	4300	6503	SO:0001583	missense	162494			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.322C>T	17.37:g.30615838C>T	ENSP00000269051:p.Arg108Cys		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_HAND_2	p.R108C	ENST00000269051.4	37	c.322	CCDS32613.1	17	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030850	0.93575	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.69040	-0.37;0.24;0.79;1.19	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.964;0.983	T	0.78497	-0.2181	10	0.48119	T	0.1	-5.7969	19.8011	0.96507	0.0:1.0:0.0:0.0	.	108;100;108	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	C	108;108;100;10	ENSP00000394849:R108C;ENSP00000269051:R108C;ENSP00000442092:R100C;ENSP00000466508:R10C	ENSP00000269051:R108C	R	+	1	0	RHBDL3	27639951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.656000	0.67988	2.679000	0.91253	0.561000	0.74099	CGC	RHBDL3	-	pirsf_Peptidase_S54_rhomboid_met		0.632	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RHBDL3	HGNC	protein_coding	OTTHUMT00000447120.1	C	NM_138328		30615838	1	no_errors	ENST00000269051	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30615838	C	T	30615838	3	4	144	1	0	0	0	0	1	0	0	0	13353	652	23	2	336	2	RHBDL3	17	30615838	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		30615838	50579372	44	23212										
NFE2L1	4779	genome.wustl.edu	37	chr17	46136124	46136124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gactctgactcaggcctttcCttagactcgagccatagccc	8	15	2	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr17:46136124C>T	ENST00000362042.3	+	6	2056	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	NFE2L1_ENST00000582155.1_Silent_p.S292S|NFE2L1_ENST00000536222.1_Silent_p.S324S|NFE2L1_ENST00000585291.1_Silent_p.S450S|NFE2L1_ENST00000361665.3_Silent_p.S469S|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Silent_p.S281S|NFE2L1_ENST00000357480.5_Silent_p.S450S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	480					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCCTTTCCTTAGACTCGA	0.522																																																	0													96	96	96					17																	46136124		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1440C>T	17.37:g.46136124C>T			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S480	ENST00000362042.3	37	c.1440	CCDS11524.1	17																																																																																			NFE2L1	-	NULL		0.522	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	C	NM_003204		46136124	1	no_errors	ENST00000362042	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46136124	C	T	46136124	2	4	144	1	0	0	0	0	0	0	0	1	10391	668	24	4		4	NFE2L1	17	46136124	Silent	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09	15520286	46136124	35059086	45	23213										
LRRC45	201255	genome.wustl.edu	37	chr17	79988571	79988571	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	agctgcggctccgggaggcgGagatcgcccgcatccgggac	17	14	0	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr17:79988571G>C	ENST00000306688.3	+	17	2245	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	635						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCGGGAGGCGGAGATCGCCCG	0.697																																																	0													8	11	10					17																	79988571		2125	4210	6335	SO:0001583	missense	201255			BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1903G>C	17.37:g.79988571G>C	ENSP00000306760:p.Glu635Gln			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E635Q	ENST00000306688.3	37	c.1903	CCDS11797.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952122	0.92660	.	.	ENSG00000169683	ENST00000306688	T	0.44482	0.92	4.5	4.5	0.54988	.	0.070853	0.56097	D	0.000036	T	0.41971	0.1182	L	0.34521	1.04	0.44995	D	0.99801	D	0.57899	0.981	P	0.52109	0.69	T	0.15521	-1.0434	9	.	.	.	-20.4498	13.1592	0.59535	0.0:0.1608:0.8392:0.0	.	635	Q96CN5	LRC45_HUMAN	Q	635	ENSP00000306760:E635Q	.	E	+	1	0	LRRC45	77581860	1.000000	0.71417	0.156000	0.22583	0.988000	0.76386	8.869000	0.92326	2.331000	0.79229	0.491000	0.48974	GAG	LRRC45	-	NULL		0.697	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC45	HGNC	protein_coding	OTTHUMT00000442058.1	G	NM_144999		79988571	1	no_errors	ENST00000306688	ensembl	human	known	70_37	missense	SNP	0.989	C	C	79988571	G	C	79988571	3	2	144	1	0	0	0	0	1	0	0	0	9025	1175	41	1	1969	1	LRRC45	17	79988571	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	33852447	79988571	1206639	46	23214										
DSG3	1830	genome.wustl.edu	37	chr18	29038498	29038498	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	cttttggaatctttgttgttGacaaaaacactggagatatt	8	5	1	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr18:29038498G>C	ENST00000257189.4	+	4	390	c.307G>C	c.(307-309)Gac>Cac	p.D103H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTTGTTGTTGACAAAAACAC	0.458																																																	0													97	94	95					18																	29038498		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.307G>C	18.37:g.29038498G>C	ENSP00000257189:p.Asp103His		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.D103H	ENST00000257189.4	37	c.307	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020970	0.54576	.	.	ENSG00000134757	ENST00000257189	T	0.65732	-0.17	5.76	4.88	0.63580	Cadherin (5);Cadherin-like (1);	0.000000	0.51477	D	0.000099	T	0.79364	0.4433	M	0.87381	2.88	0.43448	D	0.995639	D	0.71674	0.998	D	0.71414	0.973	T	0.81703	-0.0812	10	0.87932	D	0	.	11.0569	0.47925	0.1426:0.0:0.8574:0.0	.	103	P32926	DSG3_HUMAN	H	103	ENSP00000257189:D103H	ENSP00000257189:D103H	D	+	1	0	DSG3	27292496	0.994000	0.37717	0.994000	0.49952	0.497000	0.33675	1.400000	0.34577	2.880000	0.98712	0.650000	0.86243	GAC	DSG3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.458	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29038498	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.994	C	C	29038498	G	C	29038498	3	2	144	1	0	0	0	0	1	0	0	0	4788	1290	45	1	321	1	DSG3	18	29038498	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09		29038498	49038750	47	23215										
ANKRD24	170961	genome.wustl.edu	37	chr19	4222784	4222784	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	aggtgaaggatttacagcagCagctgcaggtaaggactggg	16	6	0	1			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr19:4222784C>T	ENST00000600132.1	+	20	3565	c.3289C>T	c.(3289-3291)Cag>Tag	p.Q1097*	ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q1187*|ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q1097*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1097										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TTTACAGCAGCAGCTGCAGGT	0.592																																																	0																																										SO:0001587	stop_gained	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3289C>T	19.37:g.4222784C>T	ENSP00000471252:p.Gln1097*		O75268|O95781	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1097*	ENST00000600132.1	37	c.3289	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.162772	0.98107	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	4.34	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	10.8299	0.46654	0.0:0.6288:0.3712:0.0	.	.	.	.	X	1097;1187	.	ENSP00000262970:Q1187X	Q	+	1	0	ANKRD24	4173784	1.000000	0.71417	0.989000	0.46669	0.508000	0.34012	0.583000	0.23849	0.356000	0.24157	0.306000	0.20318	CAG	ANKRD24	-	NULL		0.592	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	C	XM_114000		4222784	1	no_errors	ENST00000318934	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	4222784	C	T	4222784	4	4	144	1	0	0	0	0	0	1	0	0	653	711	25	4	3363	4	ANKRD24	19	4222784	Nonsense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		4222784	54906199	48	23216										
UBA2	10054	genome.wustl.edu	37	chr19	34954993	34954993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gcagccggcttcaagcagatGacttcctccaggactatact	9	13	1	2			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr19:34954993G>A	ENST00000246548.4	+	15	1631	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	UBA2_ENST00000592791.1_Missense_Mutation_p.D47N|UBA2_ENST00000439527.2_Missense_Mutation_p.D425N	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	521					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAAGCAGATGACTTCCTCCA	0.318																																																	0													87	90	89					19																	34954993		2203	4300	6503	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1561G>A	19.37:g.34954993G>A	ENSP00000246548:p.Asp521Asn		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.D521N	ENST00000246548.4	37	c.1561	CCDS12439.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.360802	0.95877	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.34072	1.38;1.38	5.48	5.48	0.80851	Molybdenum cofactor biosynthesis, MoeB (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72459	-0.4287	10	0.87932	D	0	-20.4007	18.4948	0.90861	0.0:0.0:1.0:0.0	.	521	Q9UBT2	SAE2_HUMAN	N	521;425	ENSP00000246548:D521N;ENSP00000437484:D425N	ENSP00000246548:D521N	D	+	1	0	UBA2	39646833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.022000	0.93678	2.741000	0.93983	0.555000	0.69702	GAC	UBA2	-	superfamily_Molybdenum_cofac_synth_MoeB		0.318	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	HGNC	protein_coding	OTTHUMT00000459257.3	G	NM_005499		34954993	1	no_errors	ENST00000246548	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34954993	G	A	34954993	3	1	144	1	0	0	0	0	1	0	0	0	16859	1290	45	1	1619	1	UBA2	19	34954993	Missense_Mutation	SNP	G	TCGA-HM-A4S6-01A-11D-A26G-09	30732209	34954993	24173990	49	23217										
SLC5A4	6527	genome.wustl.edu	37	chr22	32625325	32625325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	tgaccgaaagcatcaggcctCgcagtcctggagccgggaaa	13	12	1	1	rs142416109		TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chr22:32625325C>G	ENST00000266086.4	-	11	1147	c.1136G>C	c.(1135-1137)cGa>cCa	p.R379P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	379					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCAGGCCTCGCAGTCCTGG	0.537																																																	0													70	67	68					22																	32625325		2203	4300	6503	SO:0001583	missense	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1136G>C	22.37:g.32625325C>G	ENSP00000266086:p.Arg379Pro		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R379P	ENST00000266086.4	37	c.1136	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	.	16.41	3.115693	0.56505	.	.	ENSG00000100191	ENST00000266086	D	0.88975	-2.45	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	H	0.95079	3.62	0.80722	D	1	P	0.52577	0.954	D	0.72982	0.979	D	0.96995	0.9725	10	0.87932	D	0	.	15.39	0.74735	0.0:1.0:0.0:0.0	.	379	Q9NY91	SC5A4_HUMAN	P	379	ENSP00000266086:R379P	ENSP00000266086:R379P	R	-	2	0	SLC5A4	30955325	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	5.845000	0.69437	2.574000	0.86865	0.655000	0.94253	CGA	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.537	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	C	NM_014227		32625325	-1	no_errors	ENST00000266086	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32625325	C	G	32625325	3	3	144	1	0	0	0	0	1	0	0	0	14697	884	31	1	863	1	SLC5A4	22	32625325	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		32625325	18679241	50	23218										
NKAP	79576	genome.wustl.edu	37	chrX	119068474	119068474	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.58	29	1.22585814711385e-12	4.43618881118881	5.43900543900544	3.14685314685315	0.00807517320798834	0.0364321767988311	22	gacgatctgtgtttcttcttCttttcctttttcttggcttt	6	9	5	0			TCGA-HM-A4S6-01A-11D-A26G-09	TCGA-HM-A4S6-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	542f81e6-6083-44ac-96e3-546512629746	6e2cce33-ac0f-44f4-a406-2a00d1179507	g.chrX:119068474C>G	ENST00000371410.3	-	5	886	c.720G>C	c.(718-720)aaG>aaC	p.K240N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	240	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTTCTTCTTCTTTTCCTTTT	0.264																																																	0													74	74	74					X																	119068474		2203	4295	6498	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.720G>C	X.37:g.119068474C>G	ENSP00000360464:p.Lys240Asn		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.K240N	ENST00000371410.3	37	c.720	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	C	5.287	0.238265	0.10023	.	.	ENSG00000101882	ENST00000371410	T	0.18810	2.19	3.87	3.0	0.34707	.	0.099263	0.64402	D	0.000002	T	0.33147	0.0853	M	0.72894	2.215	0.48087	D	0.99958	D;D	0.61697	0.983;0.99	P;P	0.54174	0.637;0.744	T	0.05099	-1.0906	10	0.40728	T	0.16	-6.8138	9.906	0.41377	0.0:0.8908:0.0:0.1092	.	240;240	Q8N5F7;A0PJ73	NKAP_HUMAN;.	N	240	ENSP00000360464:K240N	ENSP00000360464:K240N	K	-	3	2	NKAP	118952502	1.000000	0.71417	0.993000	0.49108	0.062000	0.15995	0.539000	0.23175	0.754000	0.32968	0.544000	0.68410	AAG	NKAP	-	NULL		0.264	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	C	NM_024528		119068474	-1	no_errors	ENST00000371410	ensembl	human	known	70_37	missense	SNP	1.000	G	G	119068474	C	G	119068474	3	3	144	1	0	0	0	0	1	0	0	0	10463	912	32	1	547	1	NKAP	23	119068474	Missense_Mutation	SNP	C	TCGA-HM-A4S6-01A-11D-A26G-09		119068474	36202086	51	23219										
PRDM2	7799	genome.wustl.edu	37	chr1	14107417	14107417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	NA	1	1	0	ccgtggagcccctgatgtctGccgcctcacccgggcctcca	11	19	2	1			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr1:14107417G>T	ENST00000235372.7	+	8	3983	c.3127G>T	c.(3127-3129)Gcc>Tcc	p.A1043S	PRDM2_ENST00000343137.4_Missense_Mutation_p.A842S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A1043S|PRDM2_ENST00000413440.1_Missense_Mutation_p.A842S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1043	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTGATGTCTGCCGCCTCACC	0.562																																																	0													75	65	68					1																	14107417		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3127G>T	1.37:g.14107417G>T	ENSP00000235372:p.Ala1043Ser		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.A1043S	ENST00000235372.7	37	c.3127	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211355	0.09757	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01548	4.9;4.78;4.79;4.79	5.97	5.97	0.96955	.	0.451157	0.24937	N	0.034419	T	0.03390	0.0098	L	0.39898	1.24	0.42899	D	0.994223	P;P;P	0.37370	0.457;0.457;0.592	B;B;B	0.42771	0.223;0.223;0.397	T	0.65504	-0.6152	10	0.21540	T	0.41	.	17.9218	0.88969	0.0:0.0:1.0:0.0	.	901;1043;1043	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	S	1043;1043;1043;842;842	ENSP00000235372:A1043S;ENSP00000312352:A1043S;ENSP00000411103:A842S;ENSP00000341621:A842S	ENSP00000235372:A1043S	A	+	1	0	PRDM2	13980004	1.000000	0.71417	0.997000	0.53966	0.127000	0.20565	5.336000	0.65935	2.837000	0.97791	0.655000	0.94253	GCC	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.562	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	G	NM_012231		14107417	1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14107417	G	T	14107417	3	4	145	1	0	0	0	0	1	0	0	0	12485	1319	46	4	3153	4	PRDM2	1	14107417	Missense_Mutation	SNP	G	TCGA-HM-A6W2-01A-21D-A33O-09		14107417	235143204	1	23220										
IL1RAP	3556	genome.wustl.edu	37	chr3	190321985	190321985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	NA	1	1	0	ttgaagatgagccagctcgcAtcaagtgcccactctttgaa	9	11	2	4			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr3:190321985A>G	ENST00000412504.2	+	3	385	c.133A>G	c.(133-135)Atc>Gtc	p.I45V	IL1RAP_ENST00000072516.3_Missense_Mutation_p.I45V|IL1RAP_ENST00000422485.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.I45V|IL1RAP_ENST00000422940.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000439062.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000443369.2_Missense_Mutation_p.I45V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	45	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCAGCTCGCATCAAGTGCCC	0.483																																																	0													109	99	102					3																	190321985		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.133A>G	3.37:g.190321985A>G	ENSP00000412053:p.Ile45Val		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I45V	ENST00000412504.2	37	c.133	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357439	0.24598	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.61	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.066644	0.64402	D	0.000007	T	0.74481	0.3722	N	0.25286	0.73	0.43588	D	0.995939	B;B;P	0.52316	0.12;0.006;0.952	B;B;P	0.59115	0.035;0.017;0.852	T	0.68614	-0.5362	10	0.15499	T	0.54	.	11.1778	0.48610	0.9277:0.0:0.0723:0.0	.	45;45;45	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	V	45	ENSP00000072516:I45V;ENSP00000408893:I45V;ENSP00000412053:I45V;ENSP00000401132:I45V;ENSP00000390541:I45V;ENSP00000389149:I45V;ENSP00000409352:I45V;ENSP00000387371:I45V;ENSP00000314807:I45V;ENSP00000412008:I45V	ENSP00000072516:I45V	I	+	1	0	IL1RAP	191804679	0.984000	0.35163	1.000000	0.80357	0.978000	0.69477	1.645000	0.37238	1.065000	0.40693	-0.274000	0.10170	ATC	IL1RAP	-	smart_Ig_sub,prints_IL1_rcpt_I/II		0.483	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	A			190321985	1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	0.998	G	G	190321985	A	G	190321985	3	3	145	1	0	0	0	0	1	0	0	0	7680	217	8	5	139	5	IL1RAP	3	190321985	Missense_Mutation	SNP	A	TCGA-HM-A6W2-01A-21D-A33O-09		190321985	7700445	2	23221										
OR4D5	219875	genome.wustl.edu	37	chr11	123811257	123811257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	NA	1	1	0	aaaaggaccctattggtcccCtggagcacagacccttacat	8	13	0	1			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr11:123811257C>G	ENST00000307033.2	+	1	1008	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TATTGGTCCCCTGGAGCACAG	0.498																																																	0													59	61	60					11																	123811257		2202	4299	6501	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.934C>G	11.37:g.123811257C>G	ENSP00000305970:p.Leu312Val		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L312V	ENST00000307033.2	37	c.934	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	C	3.816	-0.038688	0.07497	.	.	ENSG00000171014	ENST00000307033	T	0.00296	8.24	4.36	0.0165	0.14108	.	3.470970	0.01374	U	0.012663	T	0.00144	0.0004	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38265	-0.9669	10	0.15952	T	0.53	4.887	3.746	0.08548	0.1694:0.5285:0.0:0.3021	.	312	Q8NGN0	OR4D5_HUMAN	V	312	ENSP00000305970:L312V	ENSP00000305970:L312V	L	+	1	2	OR4D5	123316467	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.106000	0.15354	0.109000	0.17891	0.655000	0.94253	CTG	OR4D5	-	NULL		0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	C	NM_001001965		123811257	1	no_errors	ENST00000307033	ensembl	human	known	70_37	missense	SNP	0.000	G	G	123811257	C	G	123811257	3	3	145	1	0	0	0	0	1	0	0	0	11081	680	24	4	936	4	OR4D5	11	123811257	Missense_Mutation	SNP	C	TCGA-HM-A6W2-01A-21D-A33O-09		123811257	11195259	3	23222			1	102		2	2	13	C		1.550548e-06
OR4D5	219875	genome.wustl.edu	37	chr11	123811269	123811269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	NA	1	1	0	ttggtcccctggagcacagaCccttacattagcagaggcag	11	12	0	2			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr11:123811269C>A	ENST00000307033.2	+	1	1020	c.946C>A	c.(946-948)Ccc>Acc	p.P316T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGCACAGACCCTTACATTA	0.483																																																	0													54	55	55					11																	123811269		2201	4299	6500	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.946C>A	11.37:g.123811269C>A	ENSP00000305970:p.Pro316Thr		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P316T	ENST00000307033.2	37	c.946	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845274	0.32606	.	.	ENSG00000171014	ENST00000307033	T	0.00293	8.26	3.45	-0.00343	0.14025	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	9	0.02654	T	1	.	2.1759	0.03862	0.1845:0.3339:0.3624:0.1192	.	316	Q8NGN0	OR4D5_HUMAN	T	316	ENSP00000305970:P316T	ENSP00000305970:P316T	P	+	1	0	OR4D5	123316479	0.000000	0.05858	0.017000	0.16124	0.051000	0.14879	-0.037000	0.12164	0.231000	0.21079	0.655000	0.94253	CCC	OR4D5	-	NULL		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	C	NM_001001965		123811269	1	no_errors	ENST00000307033	ensembl	human	known	70_37	missense	SNP	0.001	A	A	123811269	C	A	123811269	3	1	145	1	0	0	0	0	1	0	0	0	11081	507	18	4	948	4	OR4D5	11	123811269	Missense_Mutation	SNP	C	TCGA-HM-A6W2-01A-21D-A33O-09	12	123811269	11195247	4	23223			1	102		2	2	13	C		1.550548e-06
UBAP2L	9898	genome.wustl.edu	37	chr1	154201178	154201178	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tcaacagagctatcaatgttCttctggaaggaaacccagac	8	10	4	2			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:154201178C>T	ENST00000361546.2	+	3	298	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	UBAP2L_ENST00000428931.1_Missense_Mutation_p.L86F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.L86F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.L86F			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	86	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATCAATGTTCTTCTGGAAGG	0.418																																																	0													188	163	172					1																	154201178		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.256C>T	1.37:g.154201178C>T	ENSP00000355343:p.Leu86Phe		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L86F	ENST00000361546.2	37	c.256	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685414	0.47991	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.65364	1.38;1.38;-0.15;1.38;-0.15;-0.15;-0.15;-0.15;1.38	4.6	4.6	0.57074	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);UBA-like (1);	0.000000	0.64402	D	0.000002	T	0.69940	0.3167	M	0.72118	2.19	0.53005	D	0.999966	D;D;D;D	0.76494	0.985;0.999;0.999;0.998	D;D;D;D	0.80764	0.924;0.994;0.994;0.986	T	0.73949	-0.3821	10	0.87932	D	0	-4.3744	10.2241	0.43214	0.0:0.9097:0.0:0.0903	.	86;86;86;86	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	F	86	ENSP00000345308:L86F;ENSP00000389445:L86F;ENSP00000399920:L86F;ENSP00000271877:L86F;ENSP00000389052:L86F;ENSP00000357490:L86F;ENSP00000389717:L86F;ENSP00000415310:L86F;ENSP00000355343:L86F	ENSP00000271877:L86F	L	+	1	0	UBAP2L	152467802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.827000	0.48112	2.392000	0.81423	0.655000	0.94253	CTT	UBAP2L	-	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.418	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154201178	1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154201178	C	T	154201178	3	4	146	1	0	0	0	0	1	0	0	0	16869	913	32	1	266	1	UBAP2L	1	154201178	Missense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		154201178	95049443	1	23224										
CNTN2	6900	genome.wustl.edu	37	chr1	205033553	205033553	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ccccgggcagctccaaaggcCgtggtgctctggagcaaagg	15	13	1	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:205033553C>G	ENST00000331830.4	+	11	1628	c.1344C>G	c.(1342-1344)gcC>gcG	p.A448A	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	448	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAAAGGCCGTGGTGCTCT	0.637																																					Melanoma(183;2548 2817 37099 41192)												0													87	102	97					1																	205033553		2203	4300	6503	SO:0001819	synonymous_variant	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1344C>G	1.37:g.205033553C>G			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A448	ENST00000331830.4	37	c.1344	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	C	NM_005076		205033553	1	no_errors	ENST00000331830	ensembl	human	known	70_37	silent	SNP	0.008	G	G	205033553	C	G	205033553	2	3	146	1	0	0	0	0	0	0	0	1	3646	639	23	2		2	CNTN2	1	205033553	Silent	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09	50832375	205033553	44217068	2	23225										
KCNK2	3776	genome.wustl.edu	37	chr1	215259781	215259781	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ccgaggctctcgttttccacGaaacccacagtgcttgcttc	8	15	1	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:215259781G>A	ENST00000444842.2	+	2	267	c.117G>A	c.(115-117)acG>acA	p.T39T	KCNK2_ENST00000391894.2_Silent_p.T24T|KCNK2_ENST00000391895.2_Silent_p.T35T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	39					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.T24T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CGTTTTCCACGAAACCCACAG	0.507																																																	1	Substitution - coding silent(1)	large_intestine(1)											73	70	71					1																	215259781		2203	4300	6503	SO:0001819	synonymous_variant	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.117G>A	1.37:g.215259781G>A			A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.T39	ENST00000444842.2	37	c.117	CCDS41467.1	1																																																																																			KCNK2	-	NULL		0.507	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	G	NM_014217		215259781	1	no_errors	ENST00000444842	ensembl	human	known	70_37	silent	SNP	0.984	A	A	215259781	G	A	215259781	2	1	146	1	0	0	0	0	0	0	0	1	8086	1045	37	1		1	KCNK2	1	215259781	Silent	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	10226228	215259781	33990840	3	23226										
PPP1R1C	151242	genome.wustl.edu	37	chr2	182928496	182928496	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	aagcaaaggaagcagagtgtGtacacaccacccaccataaa	8	11	0	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr2:182928496G>C	ENST00000409137.3	+	4	462	c.219G>C	c.(217-219)gtG>gtC	p.V73V	PPP1R1C_ENST00000280295.3_Silent_p.V80V|PPP1R1C_ENST00000475249.1_3'UTR|PPP1R1C_ENST00000452904.1_Silent_p.V73V|PPP1R1C_ENST00000409702.1_Silent_p.V73V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	73					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGCAGAGTGTGTACACACCAC	0.453																																																	0													181	175	177					2																	182928496		1928	4137	6065	SO:0001819	synonymous_variant	151242			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.219G>C	2.37:g.182928496G>C			Q5HYJ5|Q8TD54	Silent	SNP	pfam_PPI_1DARPP-32	p.V73	ENST00000409137.3	37	c.219	CCDS46468.1	2																																																																																			PPP1R1C	-	pfam_PPI_1DARPP-32		0.453	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1C	HGNC	protein_coding	OTTHUMT00000334874.1	G	NM_001080545		182928496	1	no_errors	ENST00000409137	ensembl	human	known	70_37	silent	SNP	1.000	C	C	182928496	G	C	182928496	2	2	146	1	0	0	0	0	0	0	0	1	12396	1364	48	4		4	PPP1R1C	2	182928496	Silent	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09		182928496	60270877	4	23227										
NME6	10201	genome.wustl.edu	37	chr3	48337645	48337645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ccagcctctgatagaaaaaaCgccctgcaaagagagaggac	10	11	1	4	rs144390600		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:48337645C>T	ENST00000452211.1	-	5	434	c.197G>A	c.(196-198)cGt>cAt	p.R66H	NME6_ENST00000442597.1_Missense_Mutation_p.R66H|NME6_ENST00000426723.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.R66H|NME6_ENST00000451657.1_Intron|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.R66H|NME6_ENST00000421967.1_Missense_Mutation_p.R74H|NME6_ENST00000435684.1_Intron|NME6_ENST00000444069.1_Intron|NME6_ENST00000450160.1_Intron|NME6_ENST00000447314.1_Missense_Mutation_p.R21H|NME6_ENST00000415644.1_Intron			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	66					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		ATAGAAAAAACGCCCTGCAAA	0.448																																																	0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	56	61	59		221	4	1	3	dbSNP_134	59	0,8600		0,0,4300	no	missense	NME6	NM_005793.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	74/195	48337645	2,13004	2203	4300	6503	SO:0001583	missense	10201			AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.197G>A	3.37:g.48337645C>T	ENSP00000392352:p.Arg66His		B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.R74H	ENST00000452211.1	37	c.221		3	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600144	0.87055	4.54E-4	0.0	ENSG00000172113	ENST00000421967;ENST00000426689;ENST00000452211;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930;ENST00000456495	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	4.88	4.01	0.46588	.	0.055129	0.85682	D	0.000000	T	0.77164	0.4090	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.75484	0.986;0.9	T	0.82333	-0.0509	10	0.87932	D	0	-3.8345	11.231	0.48912	0.0:0.9108:0.0:0.0892	.	66;66	O75414;C9J9V6	NDK6_HUMAN;.	H	74;66;66;66;66;21;66;66	ENSP00000416658:R74H;ENSP00000440286:R66H;ENSP00000392352:R66H;ENSP00000399582:R66H;ENSP00000406642:R66H;ENSP00000414842:R21H;ENSP00000411116:R66H;ENSP00000392715:R66H	ENSP00000399582:R66H	R	-	2	0	NME6	48312649	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.026000	0.64103	1.438000	0.47492	0.655000	0.94253	CGT	NME6	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase		0.448	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	NME6	HGNC	protein_coding	OTTHUMT00000346107.1	C	NM_005793		48337645	-1	no_errors	ENST00000421967	ensembl	human	known	70_37	missense	SNP	0.996	T	T	48337645	C	T	48337645	3	4	146	1	0	0	0	0	1	0	0	0	10519	536	19	2	375	2	NME6	3	48337645	Missense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		48337645	149684785	5	23228										
FAM194A	131831	genome.wustl.edu	37	chr3	150421460	150421460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	cgtgaccttccagaggtactCttcgctgaacgtctcagggg	12	12	2	3			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:150421460C>G	ENST00000295910.6	-	1	278	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGAGGTACTCTTCGCTGAAC	0.622																																																	0													234	184	201					3																	150421460		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.226G>C	3.37:g.150421460C>G	ENSP00000295910:p.Glu76Gln			Missense_Mutation	SNP	NULL	p.E76Q	ENST00000295910.6	37	c.226	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475116	0.43942	.	.	ENSG00000163645	ENST00000295910;ENST00000313811	T	0.17213	2.29	3.31	3.31	0.37934	.	0.931890	0.08793	N	0.893000	T	0.22003	0.0530	L	0.29908	0.895	0.38959	D	0.958508	D	0.55385	0.971	P	0.52343	0.696	T	0.09684	-1.0663	10	0.66056	D	0.02	-2.5644	10.4127	0.44303	0.0:1.0:0.0:0.0	.	76	Q7L0X2	F194A_HUMAN	Q	76;34	ENSP00000295910:E76Q	ENSP00000295910:E76Q	E	-	1	0	FAM194A	151904150	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	1.269000	0.33074	2.160000	0.67779	0.561000	0.74099	GAG	FAM194A	-	NULL		0.622	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	C			150421460	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.003	G	G	150421460	C	G	150421460	3	3	146	1	0	0	0	0	1	0	0	0	5541	922	32	1	1821	1	FAM194A	3	150421460	Missense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09	102083815	150421460	47600970	6	23229										
MUC20	200958	genome.wustl.edu	37	chr3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ctacaaccaacagcagccgaGggacgaacagcaccttagcc	9	15	0	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																																	0																																										SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.G620R	ENST00000447234.2	37	c.1858		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG	MUC20	-	NULL		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	G	NM_152673		195453332	1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.004	A	A	195453332	G	A	195453332	3	1	146	1	0	0	0	0	1	0	0	0	9999	1000	35	4	1355	4	MUC20	3	195453332	Missense_Mutation	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	45031872	195453332	2569098	7	23230										
CMBL	134147	genome.wustl.edu	37	chr5	10286563	10286563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	cccacgatgccaattttctgGgcatgacactgttgtttcag	9	11	2	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:10286563G>A	ENST00000296658.3	-	4	789	c.369C>T	c.(367-369)gcC>gcT	p.A123A	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	123						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CAATTTTCTGGGCATGACACT	0.423																																																	0													84	74	78					5																	10286563		2203	4300	6503	SO:0001819	synonymous_variant	134147				CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"carboxymethylenebutenolidase-like (Pseudomonas)"			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.369C>T	5.37:g.10286563G>A			D3DTC7|Q8TED6	Silent	SNP	pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase	p.A123	ENST00000296658.3	37	c.369	CCDS3878.1	5																																																																																			CMBL	-	pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase		0.423	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMBL	HGNC	protein_coding	OTTHUMT00000253689.1	G	NM_138809		10286563	-1	no_errors	ENST00000296658	ensembl	human	known	70_37	silent	SNP	0.935	A	A	10286563	G	A	10286563	2	1	146	1	0	0	0	0	0	0	0	1	3581	1219	43	4		4	CMBL	5	10286563	Silent	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09		10286563	170628697	8	23231										
BRIX1	55299	genome.wustl.edu	37	chr5	34919960	34919960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tctagatactaaaatggatcGtaaggataagctatttgtga	9	4	1	2	rs374761203		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:34919960G>A	ENST00000336767.5	+	3	650	c.287G>A	c.(286-288)cGt>cAt	p.R96H	RAD1_ENST00000341754.4_5'Flank|BRIX1_ENST00000506023.1_Intron	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	96	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AAAATGGATCGTAAGGATAAG	0.264																																																	0								G	HIS/ARG	0,4348		0,0,2174	48	47	47		287	5.2	1	5		47	1,8525		0,1,4262	no	missense	BRIX1	NM_018321.3	29	0,1,6436	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	96/354	34919960	1,12873	2174	4263	6437	SO:0001583	missense	55299				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.287G>A	5.37:g.34919960G>A	ENSP00000338862:p.Arg96His		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.R96H	ENST00000336767.5	37	c.287	CCDS34143.1	5	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843372	0.71488	0.0	1.17E-4	ENSG00000113460	ENST00000336767	T	0.42513	0.97	5.22	5.22	0.72569	Brix domain (3);Anticodon-binding (1);	0.049697	0.85682	D	0.000000	T	0.44808	0.1311	M	0.67953	2.075	0.80722	D	1	B;P	0.42961	0.02;0.795	B;B	0.36922	0.013;0.236	T	0.54057	-0.8350	10	0.62326	D	0.03	-12.6367	19.1448	0.93461	0.0:0.0:1.0:0.0	.	96;96	B4E0B8;Q8TDN6	.;BRX1_HUMAN	H	96	ENSP00000338862:R96H	ENSP00000338862:R96H	R	+	2	0	BRIX1	34955717	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.218000	0.89768	2.578000	0.87016	0.637000	0.83480	CGT	BRIX1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix		0.264	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	G	NM_018321		34919960	1	no_errors	ENST00000336767	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34919960	G	A	34919960	3	1	146	1	0	0	0	0	1	0	0	0	1518	1145	40	2	297	2	BRIX1	5	34919960	Missense_Mutation	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	24633397	34919960	145995300	9	23232										
SV2C	22987	genome.wustl.edu	37	chr5	75580985	75580985	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tctccgtgtcctccttttccAgggtggagcttcagcatggg	12	12	2	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:75580985A>G	ENST00000502798.2	+	5	1355		c.e5-1		SV2C_ENST00000322285.7_Splice_Site|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTCCTTTTCCAGGGTGGAGCT	0.572																																																	0													216	219	218					5																	75580985		2105	4233	6338	SO:0001630	splice_region_variant	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.914-1A>G	5.37:g.75580985A>G			Q496K1|Q9UPU8	Splice_Site	SNP	-	e4-2	ENST00000502798.2	37	c.914-2	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354992	0.41700	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2537	0.66038	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SV2C	75616741	1.000000	0.71417	0.992000	0.48379	0.251000	0.25915	9.287000	0.95975	1.777000	0.52277	0.254000	0.18369	.	SV2C	-	-		0.572	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	A		Intron	75580985	1	no_errors	ENST00000502798	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	75580985	A	G	75580985	5	3	146	1	0	0	0	0	0	0	1	0	15449	202	7	5	926	5	SV2C	5	75580985	Splice_Site	SNP	A	TCGA-IR-A3L7-01A-21D-A20U-09	40661025	75580985	105334275	10	23233										
RIPK1	8737	genome.wustl.edu	37	chr6	3078028	3078028	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	cacaggcacaacgaggccctCttggaggaggcgaagatgat	14	10	1	2			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr6:3078028C>T	ENST00000259808.4	+	3	478	c.180C>T	c.(178-180)ctC>ctT	p.L60L	RIPK1_ENST00000380409.2_Silent_p.L60L|RIPK1_ENST00000541791.1_Silent_p.L60L|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACGAGGCCCTCTTGGAGGAGG	0.587																																																	0													77	66	70					6																	3078028		2203	4300	6503	SO:0001819	synonymous_variant	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.180C>T	6.37:g.3078028C>T			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L60	ENST00000259808.4	37	c.180	CCDS4482.1	6																																																																																			RIPK1	-	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,pfscan_Prot_kinase_cat_dom		0.587	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	C	NM_003804		3078028	1	no_errors	ENST00000259808	ensembl	human	known	70_37	silent	SNP	0.991	T	T	3078028	C	T	3078028	2	4	146	1	0	0	0	0	0	0	0	1	13410	900	32	1		1	RIPK1	6	3078028	Silent	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		3078028	168037039	11	23234										
ATXN1	6310	genome.wustl.edu	37	chr6	16327014	16327014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	agcaaactggggggatgacgTgactatggccggggctgccc	17	10	0	2			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr6:16327014T>C	ENST00000244769.4	-	8	2464	c.1528A>G	c.(1528-1530)Acg>Gcg	p.T510A	ATXN1_ENST00000436367.1_Missense_Mutation_p.T510A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	510	Self-association.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGGATGACGTGACTATGGCC	0.667																																																	0													92	106	101					6																	16327014		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1528A>G	6.37:g.16327014T>C	ENSP00000244769:p.Thr510Ala		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.T510A	ENST00000244769.4	37	c.1528	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422275	0.62622	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.79749	-1.3;-1.3	4.33	4.33	0.51752	.	0.160882	0.53938	D	0.000046	T	0.76083	0.3938	N	0.24115	0.695	0.51767	D	0.999939	D	0.64830	0.994	D	0.70716	0.97	T	0.77590	-0.2531	10	0.36615	T	0.2	-16.5092	13.6699	0.62418	0.0:0.0:0.0:1.0	.	510	P54253	ATX1_HUMAN	A	510	ENSP00000244769:T510A;ENSP00000416360:T510A	ENSP00000244769:T510A	T	-	1	0	ATXN1	16434993	1.000000	0.71417	0.849000	0.33467	0.984000	0.73092	3.688000	0.54699	1.814000	0.52955	0.459000	0.35465	ACG	ATXN1	-	NULL		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	T	NM_000332		16327014	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	0.966	C	C	16327014	T	C	16327014	3	2	146	1	0	0	0	0	1	0	0	0	1210	1696	59	5	927	5	ATXN1	6	16327014	Missense_Mutation	SNP	T	TCGA-IR-A3L7-01A-21D-A20U-09	13248986	16327014	154788053	12	23235										
VLDLR	7436	genome.wustl.edu	37	chr9	2643216	2643216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ccagtggccgctgcatctccAggaactttgtatgcaatggc	11	12	1	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr9:2643216A>G	ENST00000382100.3	+	5	861	c.505A>G	c.(505-507)Agg>Ggg	p.R169G	VLDLR_ENST00000382099.2_Missense_Mutation_p.R169G|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	169	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGCATCTCCAGGAACTTTGT	0.542																																																	0													98	98	98					9																	2643216		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.505A>G	9.37:g.2643216A>G	ENSP00000371532:p.Arg169Gly		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R169G	ENST00000382100.3	37	c.505	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864081	0.32884	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.95518	-3.73;-3.73;-3.73	5.5	4.33	0.51752	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.220646	0.30277	N	0.009989	D	0.90287	0.6962	N	0.17872	0.535	0.80722	D	1	B;B;B	0.23540	0.031;0.039;0.087	B;B;B	0.29440	0.047;0.079;0.102	D	0.85007	0.0903	10	0.18710	T	0.47	.	12.6779	0.56906	0.8622:0.1378:0.0:0.0	.	169;169;169	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	169;128;169	ENSP00000371532:R169G;ENSP00000371528:R128G;ENSP00000371531:R169G	ENSP00000371528:R128G	R	+	1	2	VLDLR	2633216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.419000	0.44671	1.058000	0.40530	0.533000	0.62120	AGG	VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt		0.542	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	A	NM_003383		2643216	1	no_errors	ENST00000382100	ensembl	human	known	70_37	missense	SNP	0.984	G	G	2643216	A	G	2643216	3	3	146	1	0	0	0	0	1	0	0	0	17205	179	7	5	523	5	VLDLR	9	2643216	Missense_Mutation	SNP	A	TCGA-IR-A3L7-01A-21D-A20U-09		2643216	138570215	13	23236										
CARS	833	genome.wustl.edu	37	chr11	3038339	3038339	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	cctggggcctggcttaccttCagcatatgggtgaggtacag	14	10	1	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:3038339C>T	ENST00000397111.5	-	15	1910	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	CARS_ENST00000397114.3_Silent_p.L545L|CARS_ENST00000380525.4_Silent_p.L638L|CARS_ENST00000401769.3_Silent_p.L568L|CARS_ENST00000278224.9_Silent_p.L555L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	555					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGCTTACCTTCAGCATATGGG	0.617			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													71	55	60					11																	3038339		2202	4298	6500	SO:0001819	synonymous_variant	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1665G>A	11.37:g.3038339C>T			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.L638	ENST00000397111.5	37	c.1914	CCDS7742.1	11																																																																																			CARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase		0.617	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	C	NM_001751		3038339	-1	no_errors	ENST00000380525	ensembl	human	known	70_37	silent	SNP	0.973	T	T	3038339	C	T	3038339	2	4	146	1	0	0	0	0	0	0	0	1	2662	813	29	1		1	CARS	11	3038339	Silent	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		3038339	131968177	14	23237										
KRTAP5-9	3846	genome.wustl.edu	37	chr11	71259966	71259966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ttgctgcaagccctgctgttGctcttcaggctgtgggtcat	12	11	3	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:71259966G>T	ENST00000528743.2	+	1	501	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	88	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCCTGCTGTTGCTCTTCAGGC	0.627																																																	0													106	120	115					11																	71259966		2200	4293	6493	SO:0001583	missense	3846			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.263G>T	11.37:g.71259966G>T	ENSP00000431443:p.Cys88Phe		Q14564|Q3MIP8	Missense_Mutation	SNP	NULL	p.C88F	ENST00000528743.2	37	c.263	CCDS53677.1	11	.	.	.	.	.	.	.	.	.	.	N	2.101	-0.406095	0.04832	.	.	ENSG00000254997	ENST00000528743	T	0.03580	3.88	1.57	0.446	0.16602	.	.	.	.	.	T	0.10337	0.0253	M	0.92169	3.28	0.25211	N	0.989978	B	0.26775	0.159	B	0.33042	0.157	T	0.12091	-1.0561	9	0.52906	T	0.07	.	7.2173	0.25967	0.0:0.2817:0.7183:0.0	.	88	P26371	KRA59_HUMAN	F	88	ENSP00000431443:C88F	ENSP00000431443:C88F	C	+	2	0	KRTAP5-9	70937614	0.358000	0.24947	0.229000	0.23960	0.155000	0.21991	0.764000	0.26532	0.158000	0.19367	0.442000	0.29010	TGC	KRTAP5-9	-	NULL		0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-9	HGNC	protein_coding	OTTHUMT00000393901.2	G			71259966	1	no_errors	ENST00000528743	ensembl	human	known	70_37	missense	SNP	0.862	T	T	71259966	G	T	71259966	3	4	146	1	0	0	0	0	1	0	0	0	8588	1319	46	4	265	4	KRTAP5-9	11	71259966	Missense_Mutation	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	68221627	71259966	63746550	15	23238										
BIRC2	329	genome.wustl.edu	37	chr11	102220740	102220740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tgaactctacagaatgtctaCatattcaactttccccgccg	5	13	3	2			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:102220740C>T	ENST00000227758.2	+	2	1554	c.155C>T	c.(154-156)aCa>aTa	p.T52I	BIRC2_ENST00000530675.1_Missense_Mutation_p.T3I|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.T31I	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	52					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGAATGTCTACATATTCAACT	0.408																																																	0													113	115	114					11																	102220740		2203	4299	6502	SO:0001583	missense	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.155C>T	11.37:g.102220740C>T	ENSP00000227758:p.Thr52Ile		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.T52I	ENST00000227758.2	37	c.155	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138810	0.77775	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.65	4.74	0.60224	Baculoviral inhibition of apoptosis protein repeat (5);	0.086316	0.85682	D	0.000000	T	0.48857	0.1523	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68311	-0.5442	10	0.87932	D	0	-1.9116	13.4646	0.61245	0.0:0.9249:0.0:0.0751	.	52	Q13490	BIRC2_HUMAN	I	3;52;52;31;31	ENSP00000431723:T3I;ENSP00000227758:T52I;ENSP00000434979:T31I;ENSP00000434708:T31I	ENSP00000227758:T52I	T	+	2	0	BIRC2	101725950	0.999000	0.42202	0.960000	0.40013	0.997000	0.91878	4.729000	0.62008	1.627000	0.50400	0.655000	0.94253	ACA	BIRC2	-	pfam_BIR,smart_BIR,pfscan_BIR		0.408	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	C	NM_001166		102220740	1	no_errors	ENST00000227758	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102220740	C	T	102220740	3	4	146	1	0	0	0	0	1	0	0	0	1436	478	17	4	157	4	BIRC2	11	102220740	Missense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09	30960774	102220740	32785776	16	23239										
ANO2	57101	genome.wustl.edu	37	chr12	5685041	5685041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tcaaactgtgagttttctggCtgcgtcccctccttcagctg	9	13	3	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr12:5685041C>T	ENST00000356134.5	-	25	2654	c.2583G>A	c.(2581-2583)caG>caA	p.Q861Q	ANO2_ENST00000327087.8_Silent_p.Q860Q|ANO2_ENST00000546188.1_Silent_p.Q861Q	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	865					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCTGGCTGCGTCCCCT	0.493																																																	0													64	66	65					12																	5685041		1950	4142	6092	SO:0001819	synonymous_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2583G>A	12.37:g.5685041C>T			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.Q861	ENST00000356134.5	37	c.2583		12																																																																																			ANO2	-	pfam_Anoctamin		0.493	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	C	NM_020373		5685041	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	silent	SNP	0.090	T	T	5685041	C	T	5685041	2	4	146	1	0	0	0	0	0	0	0	1	697	796	28	4		4	ANO2	12	5685041	Silent	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		5685041	128166854	17	23240										
TMEM90A	646658	genome.wustl.edu	37	chr14	74876248	74876248	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ggaggcagctgggccggtacCaggcctccacggccagctgc	16	15	0	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr14:74876248C>T	ENST00000554823.1	-	1	261	c.200G>A	c.(199-201)tGg>tAg	p.W67*	SYNDIG1L_ENST00000331628.3_Nonsense_Mutation_p.W67*			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	67					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GGGCCGGTACCAGGCCTCCAC	0.672																																																	0													22	25	24					14																	74876248		1884	4098	5982	SO:0001587	stop_gained	646658				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.200G>A	14.37:g.74876248C>T	ENSP00000450439:p.Trp67*			Nonsense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.W67*	ENST00000554823.1	37	c.200	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337505	0.81911	.	.	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	.	.	.	4.44	3.47	0.39725	.	0.144281	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-3.7798	9.398	0.38415	0.3333:0.6667:0.0:0.0	.	.	.	.	X	67	.	ENSP00000331474:W67X	W	-	2	0	SYNDIG1L	73946001	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.017000	0.64047	2.298000	0.77334	0.467000	0.42956	TGG	SYNDIG1L	-	NULL		0.672	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	C	XM_938515		74876248	-1	no_errors	ENST00000331628	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74876248	C	T	74876248	4	4	146	1	0	0	0	0	0	1	0	0	16248	595	21	4	528	4	TMEM90A	14	74876248	Nonsense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		74876248	32473292	18	23241										
TRAF3	7187	genome.wustl.edu	37	chr14	103369593	103369593	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	aacacctttggtttggaagcGagtgatagacagccaagcag	12	8	0	2	rs148461790		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr14:103369593G>A	ENST00000560371.1	+	10	1179	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	TRAF3_ENST00000347662.4_Splice_Site_p.R296Q|TRAF3_ENST00000539721.1_Splice_Site_p.R238Q|TRAF3_ENST00000351691.5_Splice_Site_p.R296Q|TRAF3_ENST00000392745.2_Splice_Site_p.R321Q	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	321					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GTTTGGAAGCGAGTGATAGAC	0.502													G|||	1	0.000199681	0	0	5008	,	,		19105	0		0.001	False		,,,				2504	0																0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90	95	93		713,962,962,887	4.5	1	14	dbSNP_134	93	5,8595	4.3+/-15.6	0,5,4295	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	TRAF3	NM_001199427.1,NM_003300.3,NM_145725.2,NM_145726.2	43,43,43,43	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	238/486,321/569,321/569,296/544	103369593	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.961-1G>A	14.37:g.103369593G>A			B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R321Q	ENST00000560371.1	37	c.962	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785023	0.49997	2.27E-4	5.81E-4	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.28895	1.59;1.59;1.59	4.53	4.53	0.55603	.	0.377447	0.28624	N	0.014691	T	0.15869	0.0382	N	0.14661	0.345	0.41244	D	0.98666	B;B;B	0.33857	0.429;0.0;0.016	B;B;B	0.20767	0.031;0.002;0.018	T	0.08493	-1.0719	10	0.08599	T	0.76	-2.6903	17.6388	0.88129	0.0:0.0:1.0:0.0	.	238;296;321	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	Q	321;296;321;238	ENSP00000376500:R321Q;ENSP00000328003:R296Q;ENSP00000445998:R238Q	ENSP00000328003:R296Q	R	+	2	0	TRAF3	102439346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.633000	0.61318	2.242000	0.73789	0.655000	0.94253	CGA	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF		0.502	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	G	NM_145725	Missense_Mutation	103369593	1	no_errors	ENST00000392745	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103369593	G	A	103369593	5	1	146	1	0	0	0	0	0	0	1	0	16470	1072	37	1	996	1	TRAF3	14	103369593	Splice_Site	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	28493345	103369593	3979947	19	23242										
TMEM8A	58986	genome.wustl.edu	37	chr16	422230	422230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ccgggcaggaggtagaaggcCcagcgctgccacgaggtggg	19	11	0	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:422230C>A	ENST00000431232.2	-	13	2233	c.2073G>T	c.(2071-2073)tgG>tgT	p.W691C	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.W498C|MRPL28_ENST00000389675.2_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	691					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGTAGAAGGCCCAGCGCTGCC	0.627																																																	0													45	45	45					16																	422230		2195	4299	6494	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2073G>T	16.37:g.422230C>A	ENSP00000401338:p.Trp691Cys		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.W691C	ENST00000431232.2	37	c.2073	CCDS10407.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.597271|4.597271	0.87055|0.87055	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942	.|T;T	.|0.48836	.|0.8;0.8	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.000000	.|0.56097	.|D	.|0.000032	T|T	0.69611|0.69611	0.3130|0.3130	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.75786|0.75786	-0.3195|-0.3195	5|10	.|0.87932	.|D	.|0	-12.1016|-12.1016	16.6918|16.6918	0.85323|0.85323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|691	.|Q9HCN3	.|TMM8A_HUMAN	V|C	159|691;498;179	.|ENSP00000401338:W691C;ENSP00000250930:W498C	.|ENSP00000250930:W498C	G|W	-|-	2|3	0|0	TMEM8A|TMEM8A	362231|362231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.505000|7.505000	0.81655|0.81655	2.172000|2.172000	0.68678|0.68678	0.455000|0.455000	0.32223|0.32223	GGG|TGG	TMEM8A	-	pfam_DUF3522		0.627	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	C	NM_021259		422230	-1	no_errors	ENST00000431232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	422230	C	A	422230	3	1	146	1	0	0	0	0	1	0	0	0	16244	624	22	4	246	4	TMEM8A	16	422230	Missense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		422230	89932523	20	23243										
EME2	197342	genome.wustl.edu	37	chr16	1825175	1825175	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	acagcagggctggctgggacGggggttcaggggaggtgggc	23	7	1	0	rs143812454		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:1825175G>A	ENST00000568449.1	+	4	590				EME2_ENST00000307394.7_Missense_Mutation_p.R204Q|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.R204Q(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TGGCTGGGACGGGGGTTCAGG	0.677								Direct reversal of damage;Homologous recombination																																									1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	44	49	47		611	-2	0	16	dbSNP_134	47	2,8592	1.2+/-3.3	0,2,4295	yes	missense	EME2	NM_001010865.1	43	0,3,6490	AA,AG,GG		0.0233,0.0228,0.0231		204/445	1825175	3,12983	2196	4297	6493	SO:0001627	intron_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.569+42G>A	16.37:g.1825175G>A			Q8TEP2|Q96RY3	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.R204Q	ENST00000568449.1	37	c.611	CCDS58404.1	16	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161931	0.09287	2.28E-4	2.33E-4	ENSG00000197774	ENST00000307394	.	.	.	3.87	-2.03	0.07365	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	5	0.19147	T	0.46	.	1.6251	0.02721	0.1212:0.1673:0.3712:0.3403	.	.	.	.	Q	204	.	ENSP00000303779:R204Q	R	+	2	0	EME2	1765176	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.586000	0.23894	-0.272000	0.09259	-0.424000	0.05967	CGG	EME2	-	pfam_ERCC4_domain,smart_ERCC4_domain		0.677	EME2-001	NOVEL	basic|CCDS	protein_coding	EME2	HGNC	protein_coding	OTTHUMT00000433185.2	G	NM_001010865		1825175	1	no_errors	ENST00000307394	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1825175	G	A	1825175	1	1	146	0	1	0	0	0	0	0	0	0	5101	1116	39	2		2	EME2	16	1825175	Intron	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	1402945	1825175	88529578	21	23244										
SLC5A11	115584	genome.wustl.edu	37	chr16	24921753	24921753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	aggccagcagcagcagcagcGtccagttcgagatggttcaa	13	11	1	1	rs572775623		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:24921753G>A	ENST00000347898.3	+	15	2399	c.1777G>A	c.(1777-1779)Gtc>Atc	p.V593I	SLC5A11_ENST00000539472.1_Missense_Mutation_p.V529I|SLC5A11_ENST00000569071.1_Missense_Mutation_p.V437I|SLC5A11_ENST00000449109.2_Missense_Mutation_p.V437I|SLC5A11_ENST00000424767.2_Missense_Mutation_p.V558I|SLC5A11_ENST00000545376.1_Missense_Mutation_p.V523I|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V558I|SLC5A11_ENST00000565769.1_Missense_Mutation_p.V529I|SLC5A11_ENST00000568579.1_Missense_Mutation_p.V523I	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.V593I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CAGCAGCAGCGTCCAGTTCGA	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		16146	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	kidney(1)											98	76	83					16																	24921753		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1777G>A	16.37:g.24921753G>A	ENSP00000289932:p.Val593Ile			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V593I	ENST00000347898.3	37	c.1777	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120544	0.01785	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	0.158	0.158	0.14942	.	2.550580	0.00941	N	0.002832	T	0.30448	0.0765	N	0.02011	-0.69	0.09310	N	1	B;B;B;P	0.39404	0.0;0.001;0.0;0.672	B;B;B;B	0.29524	0.0;0.001;0.0;0.103	T	0.28427	-1.0044	9	0.33141	T	0.24	.	.	.	.	.	523;558;593;437	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	I	593;437;558;523;529	ENSP00000289932:V593I;ENSP00000389606:V437I;ENSP00000416782:V558I;ENSP00000441384:V523I;ENSP00000441018:V529I	ENSP00000289932:V593I	V	+	1	0	SLC5A11	24829254	0.000000	0.05858	0.012000	0.15200	0.251000	0.25915	-0.428000	0.06991	0.202000	0.20498	0.205000	0.17691	GTC	SLC5A11	-	NULL		0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	G	NM_052944		24921753	1	no_errors	ENST00000347898	ensembl	human	known	70_37	missense	SNP	0.011	A	A	24921753	G	A	24921753	3	1	146	1	0	0	0	0	1	0	0	0	14693	1145	40	2	1831	2	SLC5A11	16	24921753	Missense_Mutation	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09	23096578	24921753	65433000	22	23245										
MYH4	4622	genome.wustl.edu	37	chr17	10357006	10357006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tctcaaccttggccagtgtcAgctcaaggtcatcaatgtct	8	12	6	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:10357006A>G	ENST00000255381.2	-	23	2998	c.2888T>C	c.(2887-2889)cTg>cCg	p.L963P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	963					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCCAGTGTCAGCTCAAGGTC	0.423																																																	0													284	266	272					17																	10357006		2203	4297	6500	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2888T>C	17.37:g.10357006A>G	ENSP00000255381:p.Leu963Pro			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L963P	ENST00000255381.2	37	c.2888	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	21.3	4.136102	0.77662	.	.	ENSG00000141048	ENST00000255381	D	0.90069	-2.61	5.81	5.81	0.92471	.	0.000000	0.29551	U	0.011825	D	0.95101	0.8413	H	0.94925	3.6	0.80722	D	1	D	0.56968	0.978	P	0.55391	0.775	D	0.96176	0.9127	10	0.72032	D	0.01	.	16.4563	0.84015	1.0:0.0:0.0:0.0	.	963	Q9Y623	MYH4_HUMAN	P	963	ENSP00000255381:L963P	ENSP00000255381:L963P	L	-	2	0	MYH4	10297731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.182000	0.94881	2.343000	0.79666	0.533000	0.62120	CTG	MYH4	-	NULL		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	A	NM_017533		10357006	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10357006	A	G	10357006	3	3	146	1	0	0	0	0	1	0	0	0	10060	188	7	5	3003	5	MYH4	17	10357006	Missense_Mutation	SNP	A	TCGA-IR-A3L7-01A-21D-A20U-09		10357006	70838204	23	23246										
STAT5B	6777	genome.wustl.edu	37	chr17	40362483	40362483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	atcacaccgtcaaaccattgCcagaaagtgtaattccgtcc	6	13	2	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:40362483C>A	ENST00000293328.3	-	14	1881	c.1713G>T	c.(1711-1713)tgG>tgT	p.W571C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	571					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CAAACCATTGCCAGAAAGTGT	0.393																																																	0													120	115	116					17																	40362483		2203	4300	6503	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1713G>T	17.37:g.40362483C>A	ENSP00000293328:p.Trp571Cys		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.W571C	ENST00000293328.3	37	c.1713	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829810	0.91036	.	.	ENSG00000173757	ENST00000293328	D	0.98602	-5.02	5.53	5.53	0.82687	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99690	1.1001	10	0.87932	D	0	-9.7872	19.6556	0.95837	0.0:1.0:0.0:0.0	.	571	P51692	STA5B_HUMAN	C	571	ENSP00000293328:W571C	ENSP00000293328:W571C	W	-	3	0	STAT5B	37616009	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.563000	0.82314	2.882000	0.98803	0.655000	0.94253	TGG	STAT5B	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.393	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	C	NM_012448		40362483	-1	no_errors	ENST00000293328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40362483	C	A	40362483	3	1	146	1	0	0	0	0	1	0	0	0	15299	740	26	4	674	4	STAT5B	17	40362483	Missense_Mutation	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09	30005477	40362483	40832727	24	23247										
TTLL6	284076	genome.wustl.edu	37	chr17	46863530	46863530	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ctcaatccaggtttacctgtTtggaggcttgggtggcggcc	14	10	1	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:46863530T>A	ENST00000393382.3	-	12	1898	c.1757A>T	c.(1756-1758)aAa>aTa	p.K586I	TTLL6_ENST00000433608.2_Missense_Mutation_p.K279I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTTTACCTGTTTGGAGGCTTG	0.592																																																	0													370	341	351					17																	46863530		2203	4300	6503	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1757A>T	17.37:g.46863530T>A	ENSP00000377043:p.Lys586Ile			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.K586I	ENST00000393382.3	37	c.1757	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	-0.874	0.10631	.	427.774000	0.00166	N	0.000000	T	0.62974	0.2472	L	0.59436	1.845	0.28872	N	0.894877	D;D;D	0.76494	0.966;0.989;0.999	P;P;D	0.64410	0.641;0.726;0.925	T	0.52533	-0.8563	9	0.51188	T	0.08	.	9.0347	0.36280	0.0:0.5217:0.0:0.4783	.	538;339;279	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	I	586;279;264;538	.	ENSP00000302547:K279I	K	-	2	0	TTLL6	44218529	1.000000	0.71417	0.997000	0.53966	0.135000	0.20990	0.472000	0.22116	-0.056000	0.13221	0.459000	0.35465	AAA	TTLL6	-	NULL		0.592	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	T	NM_173623		46863530	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	missense	SNP	0.997	A	A	46863530	T	A	46863530	3	1	146	1	0	0	0	0	1	0	0	0	16762	1841	64	5	934	5	TTLL6	17	46863530	Missense_Mutation	SNP	T	TCGA-IR-A3L7-01A-21D-A20U-09	6501047	46863530	34331680	25	23248										
ANKRD12	23253	genome.wustl.edu	37	chr18	9256897	9256897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	atccatgatttctgttgctaGttcagaagattcctgccata	7	9	2	3			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr18:9256897G>T	ENST00000262126.4	+	9	3872	c.3632G>T	c.(3631-3633)aGt>aTt	p.S1211I	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1188I|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1188I|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1211						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCTGTTGCTAGTTCAGAAGAT	0.413																																																	0													59	61	60					18																	9256897		2201	4300	6501	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3632G>T	18.37:g.9256897G>T	ENSP00000262126:p.Ser1211Ile		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S1211I	ENST00000262126.4	37	c.3632	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110536	0.77210	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	D;D	0.81908	-1.54;-1.55	5.79	5.79	0.91817	.	0.039744	0.85682	D	0.000000	D	0.91317	0.7262	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66979	0.948;0.889	D	0.91623	0.5312	10	0.87932	D	0	-21.288	20.0417	0.97594	0.0:0.0:1.0:0.0	.	1188;1211	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	I	1188;1211	ENSP00000372932:S1188I;ENSP00000262126:S1211I	ENSP00000262126:S1211I	S	+	2	0	ANKRD12	9246897	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	AGT	ANKRD12	-	NULL		0.413	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9256897	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9256897	G	T	9256897	3	4	146	1	0	0	0	0	1	0	0	0	640	1029	36	4	3662	4	ANKRD12	18	9256897	Missense_Mutation	SNP	G	TCGA-IR-A3L7-01A-21D-A20U-09		9256897	68820351	26	23249										
STARD6	147323	genome.wustl.edu	37	chr18	51851221	51851221	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	atttctgtctggacaaacatCactagtttggaatatgctgg	9	7	3	0			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr18:51851221C>T	ENST00000581310.1	-	9	877	c.504G>A	c.(502-504)gtG>gtA	p.V168V	STARD6_ENST00000580990.2_Silent_p.V44V|STARD6_ENST00000307844.3_Silent_p.V168V			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	168	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAAACATCACTAGTTTGG	0.333																																																	0													112	109	110					18																	51851221		2201	4300	6501	SO:0001819	synonymous_variant	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.504G>A	18.37:g.51851221C>T				Silent	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.V168	ENST00000581310.1	37	c.504	CCDS11955.1	18																																																																																			STARD6	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	HGNC	protein_coding	OTTHUMT00000256000.3	C	NM_139171		51851221	-1	no_errors	ENST00000307844	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51851221	C	T	51851221	2	4	146	1	0	0	0	0	0	0	0	1	15291	813	29	1		1	STARD6	18	51851221	Silent	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09	42594324	51851221	26226027	27	23250										
FCGBP	8857	genome.wustl.edu	37	chr19	40382747	40382747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	agagccctgaggttgtggtcAccaccacgtcggcgccgctc	13	15	1	2			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr19:40382747A>G	ENST00000221347.6	-	22	10146	c.10139T>C	c.(10138-10140)gTg>gCg	p.V3380A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3380	VWFD 8. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTGGTCACCACCACGTC	0.687																																																	0													1	1	1					19																	40382747		474	1175	1649	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10139T>C	19.37:g.40382747A>G	ENSP00000221347:p.Val3380Ala		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.V3380A	ENST00000221347.6	37	c.10139	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642101	0.67244	.	.	ENSG00000090920	ENST00000221347	T	0.62232	0.04	2.63	2.63	0.31362	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.77678	0.4166	M	0.84326	2.69	0.25619	N	0.986419	D	0.76494	0.999	D	0.87578	0.998	T	0.64089	-0.6489	9	0.66056	D	0.02	.	8.3899	0.32522	1.0:0.0:0.0:0.0	.	3380	Q9Y6R7	FCGBP_HUMAN	A	3380	ENSP00000221347:V3380A	ENSP00000221347:V3380A	V	-	2	0	FCGBP	45074587	0.456000	0.25744	0.203000	0.23512	0.025000	0.11179	4.976000	0.63785	1.218000	0.43458	0.329000	0.21502	GTG	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D		0.687	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	A	NM_003890		40382747	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.952	G	G	40382747	A	G	40382747	3	3	146	1	0	0	0	0	1	0	0	0	5796	159	6	5	6138	5	FCGBP	19	40382747	Missense_Mutation	SNP	A	TCGA-IR-A3L7-01A-21D-A20U-09		40382747	18746236	28	23251										
MYH9	4627	genome.wustl.edu	37	chr22	36685206	36685206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	tgcttgttgagccgctccagCtccgccttctgctccatggc	10	16	1	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr22:36685206C>T	ENST00000216181.5	-	32	4712	c.4482G>A	c.(4480-4482)gaG>gaA	p.E1494E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1494					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCGCTCCAGCTCCGCCTTCT	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													82	63	69					22																	36685206		2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4482G>A	22.37:g.36685206C>T			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1494	ENST00000216181.5	37	c.4482	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail,superfamily_Prefoldin		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36685206	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36685206	C	T	36685206	2	4	146	1	0	0	0	0	0	0	0	1	10065	796	28	4		4	MYH9	22	36685206	Silent	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09		36685206	14619360	29	23252										
HDX	139324	genome.wustl.edu	37	chrX	83724357	83724360	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	ctgtaatttgtgtgtctgtaTgtttgtttgttccttgccta							TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrX:83724357_83724360delTGTT	ENST00000297977.5	-	3	482_485	c.371_374delAACA	c.(370-375)aaacatfs	p.KH124fs	HDX_ENST00000506585.2_Frame_Shift_Del_p.KH66fs|HDX_ENST00000373177.2_Frame_Shift_Del_p.KH124fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	124						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTGTCTGTATGTTTGTTTGTTCC	0.392																																					Pancreas(53;231 1169 36156 43751 51139)												0																																										SO:0001589	frameshift_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.371_374delAACA	X.37:g.83724365_83724368delTGTT	ENSP00000297977:p.Lys124fs		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.K124fs	ENST00000297977.5	37	c.374_371	CCDS35342.1	X																																																																																			HDX	-	NULL		0.392	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	TGTT	NM_144657		83724360	-1	no_errors	ENST00000297977	ensembl	human	known	70_37	frame_shift_del	DEL	0.372:0.362:0.325:0.948	-	-	83724360	TGTT	-	83724357	7	5	146	1	0	1	0	1	0	0	0	0	7046	1464	51	0	1730	0	HDX	23	83724357	Frame_Shift_Del	DEL	TGTT	TCGA-IR-A3L7-01A-21D-A20U-09		83724357	71546203	30	23253										
TSC22D3	392517	genome.wustl.edu	37	chrX	107018613	107018613	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.0917428065574788	2.22402597402597	2.96536796536797	2.09320091673033	0.206349206349206	0.439909297052153	0	gcagttgcagcagtcgaggcCgacaggtgagcggcaatcga	16	10	0	1			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrX:107018613C>T	ENST00000509000.2	+	0	0				TSC22D3_ENST00000372383.4_Missense_Mutation_p.G13S|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000506081.1_Missense_Mutation_p.G13S|TSC22D3_ENST00000315660.4_Missense_Mutation_p.G13S|TSC22D3_ENST00000372384.2_Missense_Mutation_p.G13S			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CAGTCGAGGCCGACAGGTGAG	0.687																																																	0													26	22	23					X																	107018613		2203	4294	6497	SO:0001631	upstream_gene_variant	1831					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"RNA binding motif (RRM) containing"	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018613C>T	Exception_encountered			Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.G13S	ENST00000509000.2	37	c.37		X	.	.	.	.	.	.	.	.	.	.	c	33	5.291000	0.95546	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965;ENST00000502961	.	.	.	5.21	5.21	0.72293	.	0.363989	0.31809	N	0.007040	T	0.66218	0.2767	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70153	-0.4950	9	0.87932	D	0	-22.5558	15.3744	0.74593	0.0:1.0:0.0:0.0	.	13	Q99576-3	.	S	13	.	ENSP00000314655:G13S	G	-	1	0	TSC22D3	106905269	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.169000	0.77578	2.310000	0.77875	0.597000	0.82753	GGC	TSC22D3	-	NULL		0.687	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057850.2	C	XM_373362		107018613	-1	no_errors	ENST00000315660	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107018613	C	T	107018613	1	4	146	0	1	0	0	0	0	0	0	0	16640	652	23	2		2	TSC22D3	23	107018613	5'Flank	SNP	C	TCGA-IR-A3L7-01A-21D-A20U-09	23294256	107018613	48251947	31	23254										
AGRN	375790	genome.wustl.edu	37	chr1	981451	981451	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcccgatgctcacctgtccaGaggccaacgctaccaaggtg	11	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:981451G>A	ENST00000379370.2	+	16	2838	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	930	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CACCTGTCCAGAGGCCAACGC	0.637																																																	0													155	151	152					1																	981451		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2788G>A	1.37:g.981451G>A	ENSP00000368678:p.Glu930Lys		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.E930K	ENST00000379370.2	37	c.2788	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231012	0.58777	.	.	ENSG00000188157	ENST00000379370	T	0.04360	3.64	5.6	4.69	0.59074	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.257150	0.30244	N	0.010062	T	0.08891	0.0220	L	0.41124	1.26	0.58432	D	0.999995	B	0.30584	0.286	B	0.43867	0.434	T	0.34329	-0.9833	10	0.32370	T	0.25	-17.6819	12.808	0.57624	0.0762:0.0:0.9238:0.0	.	930	O00468	AGRIN_HUMAN	K	930	ENSP00000368678:E930K	ENSP00000368678:E930K	E	+	1	0	AGRN	971314	0.330000	0.24705	0.441000	0.26858	0.051000	0.14879	3.299000	0.51826	1.365000	0.46057	0.655000	0.94253	GAG	AGRN	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_EG-like_dom,smart_Prot_inh_Kazal		0.637	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	G	NM_198576		981451	1	no_errors	ENST00000379370	ensembl	human	known	70_37	missense	SNP	0.996	A	A	981451	G	A	981451	3	1	147	1	0	0	0	0	1	0	0	0	397	943	33	1	2850	1	AGRN	1	981451	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		981451	248269170	1	23255										
TAS1R3	83756	genome.wustl.edu	37	chr1	1269217	1269217	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccttgtcccacctcccgctCacgggctgcctgagcacact	8	20	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1269217C>G	ENST00000339381.5	+	6	1964	c.1932C>G	c.(1930-1932)ctC>ctG	p.L644L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	644					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		ACCTCCCGCTCACGGGCTGCC	0.687																																																	0													19	22	21					1																	1269217		2193	4293	6486	SO:0001819	synonymous_variant	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1932C>G	1.37:g.1269217C>G			Q5TA49|Q8NGW9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L644	ENST00000339381.5	37	c.1932	CCDS30556.1	1																																																																																			TAS1R3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.687	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	C			1269217	1	no_errors	ENST00000339381	ensembl	human	known	70_37	silent	SNP	0.871	G	G	1269217	C	G	1269217	2	3	147	1	0	0	0	0	0	0	0	1	15594	813	29	1		1	TAS1R3	1	1269217	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	287766	1269217	247981404	2	23256										
KIAA1751	85452	genome.wustl.edu	37	chr1	1895300	1895300	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttgtacactttgccaatatCaaagtcctgggaaaggccga	9	10	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1895300C>G								TMEM52 (44588 upstream) : C1orf222 (24262 downstream)																							TTGCCAATATCAAAGTCCTGG	0.552																																																	0													79	80	80					1																	1895300		1930	4132	6062	SO:0001628	intergenic_variant	85452																															1.37:g.1895300C>G				Missense_Mutation	SNP	NULL	p.D528H		37	c.1582		1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.277118	0.40294	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.01	4.01	0.46588	.	0.291361	0.28453	N	0.015299	T	0.78349	0.4269	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81784	-0.0774	9	0.87932	D	0	-22.7153	14.0353	0.64640	0.0:1.0:0.0:0.0	.	528;528	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	H	528	.	ENSP00000270720:D528H	D	-	1	0	C1orf222	1885160	1.000000	0.71417	0.359000	0.25824	0.242000	0.25591	5.148000	0.64857	2.240000	0.73641	0.556000	0.70494	GAT	C1orf222	-	NULL	0	0.552					C1orf222	HGNC			C			1895300	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.904	G	G	1895300	C	G	1895300	1	3	147	0	1	0	0	0	0	0	0	0	8276	826	29	1		1	KIAA1751	1	1895300	IGR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	626083	1895300	247355321	3	23257										
TP73	7161	genome.wustl.edu	37	chr1	3638720	3638720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaaagcggagcacgtgaccGacgtcgtgaaacgctgcccc	13	13	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:3638720G>A	ENST00000378295.4	+	5	720	c.565G>A	c.(565-567)Gac>Aac	p.D189N	TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000604479.1_Missense_Mutation_p.D189N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	189	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCACGTGACCGACGTCGTGAA	0.647																																																	0													74	67	70					1																	3638720		2201	4297	6498	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.565G>A	1.37:g.3638720G>A	ENSP00000367545:p.Asp189Asn		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.D189N	ENST00000378295.4	37	c.565	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259548	0.39995	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.108958	0.64402	D	0.000010	D	0.98745	0.9578	L	0.58810	1.83	0.40527	D	0.980894	P;P;B;B;B;P	0.47034	0.654;0.889;0.424;0.424;0.168;0.479	B;B;B;B;B;B	0.31751	0.054;0.135;0.067;0.067;0.059;0.11	D	0.99087	1.0839	10	0.87932	D	0	-21.6062	13.7221	0.62735	0.0:0.0:1.0:0.0	.	140;140;140;140;189;189	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	N	189;189;189;189;140;140;140;118	ENSP00000367545:D189N;ENSP00000346423:D189N;ENSP00000350366:D189N;ENSP00000340740:D189N;ENSP00000367537:D140N;ENSP00000367534:D140N;ENSP00000367529:D140N;ENSP00000367539:D118N	ENSP00000340740:D189N	D	+	1	0	TP73	3628580	1.000000	0.71417	0.097000	0.21041	0.063000	0.16089	9.354000	0.97083	1.762000	0.52044	0.491000	0.48974	GAC	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3638720	1	no_errors	ENST00000378295	ensembl	human	known	70_37	missense	SNP	0.998	A	A	3638720	G	A	3638720	3	1	147	1	0	0	0	0	1	0	0	0	16424	1058	37	1	622	1	TP73	1	3638720	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1743420	3638720	245611901	4	23258										
CCDC27	148870	genome.wustl.edu	37	chr1	3670736	3670736	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatgtccaaaatggaacttCgaagggtcttccccacgcat	8	12	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:3670736C>T	ENST00000294600.2	+	2	457	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	125								p.R125*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AATGGAACTTCGAAGGGTCTT	0.597																																																	1	Substitution - Nonsense(1)	large_intestine(1)											139	133	135					1																	3670736		2203	4300	6503	SO:0001587	stop_gained	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.373C>T	1.37:g.3670736C>T	ENSP00000294600:p.Arg125*		Q5TBV3|Q96M50	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R125*	ENST00000294600.2	37	c.373	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918295	0.52546	.	.	ENSG00000162592	ENST00000294600	.	.	.	3.19	-3.86	0.04230	.	0.205183	0.23789	N	0.044544	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3928	6.8523	0.24022	0.6818:0.2099:0.0:0.1083	.	.	.	.	X	125	.	ENSP00000294600:R125X	R	+	1	2	CCDC27	3660596	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.084000	0.11268	-0.791000	0.04486	0.609000	0.83330	CGA	CCDC27	-	NULL		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	C	NM_152492		3670736	1	no_errors	ENST00000294600	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	3670736	C	T	3670736	4	4	147	1	0	0	0	0	0	1	0	0	2806	876	31	1	379	1	CCDC27	1	3670736	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	32016	3670736	245579885	5	23259										
CHD5	26038	genome.wustl.edu	37	chr1	6169958	6169958	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acttcagccaggcgggcgttGagggccatggcggggtggtt	19	9	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:6169958G>C	ENST00000262450.3	-	38	5574	c.5475C>G	c.(5473-5475)ctC>ctG	p.L1825L	CHD5_ENST00000378021.1_Silent_p.L682L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCGGGCGTTGAGGGCCATGG	0.662																																																	0													56	62	60					1																	6169958		2203	4299	6502	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5475C>G	1.37:g.6169958G>C			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1825	ENST00000262450.3	37	c.5475	CCDS57.1	1																																																																																			CHD5	-	pfam_CHD_C2		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	G	NM_015557		6169958	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6169958	G	C	6169958	2	2	147	1	0	0	0	0	0	0	0	1	3333	1277	45	1		1	CHD5	1	6169958	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2499222	6169958	243080663	6	23260										
CAMTA1	23261	genome.wustl.edu	37	chr1	7724494	7724494	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaacccctccccgtcgagcaGaacacccacagcagcctgag	8	18	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:7724494G>C	ENST00000303635.7	+	9	2094	c.1887G>C	c.(1885-1887)caG>caC	p.Q629H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q629H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGTCGAGCAGAACACCCACA	0.657			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													108	125	120					1																	7724494		2203	4299	6502	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1887G>C	1.37:g.7724494G>C	ENSP00000306522:p.Gln629His		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.Q629H	ENST00000303635.7	37	c.1887	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	6.529	0.465841	0.12402	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21543	2.0;2.0	5.12	3.12	0.35913	.	0.298156	0.32785	N	0.005653	T	0.17323	0.0416	L	0.40543	1.245	0.40537	D	0.980984	D	0.56521	0.976	P	0.47744	0.556	T	0.11084	-1.0602	10	0.72032	D	0.01	-9.9307	0.8841	0.01240	0.2538:0.1676:0.4057:0.1729	.	629	Q9Y6Y1	CMTA1_HUMAN	H	629	ENSP00000306522:Q629H;ENSP00000402561:Q629H	ENSP00000306522:Q629H	Q	+	3	2	CAMTA1	7647081	1.000000	0.71417	0.941000	0.38009	0.400000	0.30750	0.815000	0.27253	1.179000	0.42884	-0.374000	0.07098	CAG	CAMTA1	-	NULL		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724494	1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	0.967	C	C	7724494	G	C	7724494	3	2	147	1	0	0	0	0	1	0	0	0	2618	933	33	1	1921	1	CAMTA1	1	7724494	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1554536	7724494	241526127	7	23261										
CAMTA1	23261	genome.wustl.edu	37	chr1	7724548	7724548	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accttcgtgatgcccacggtGaaaacggaggcctcgtccca	11	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:7724548G>A	ENST00000303635.7	+	9	2148	c.1941G>A	c.(1939-1941)gtG>gtA	p.V647V	CAMTA1_ENST00000439411.2_Silent_p.V647V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCCCACGGTGAAAACGGAGG	0.627			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													109	115	113					1																	7724548		2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1941G>A	1.37:g.7724548G>A			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.V647	ENST00000303635.7	37	c.1941	CCDS30576.1	1																																																																																			CAMTA1	-	NULL		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724548	1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7724548	G	A	7724548	2	1	147	1	0	0	0	0	0	0	0	1	2618	1277	45	1		1	CAMTA1	1	7724548	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	54	7724548	241526073	8	23262										
PER3	8863	genome.wustl.edu	37	chr1	7863191	7863191	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caccctgaagatcgttctctGatggttgccatacaccaaaa	7	12	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:7863191G>C	ENST00000361923.2	+	8	1129	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PER3_ENST00000377532.3_Silent_p.L319L|PER3_ENST00000377541.1_Silent_p.L318L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	318	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTCTCTGATGGTTGCCA	0.418																																																	0													172	150	158					1																	7863191		2203	4300	6503	SO:0001819	synonymous_variant	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.954G>C	1.37:g.7863191G>C			Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.L318	ENST00000361923.2	37	c.954	CCDS89.1	1																																																																																			PER3	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS		0.418	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7863191	1	no_errors	ENST00000361923	ensembl	human	known	70_37	silent	SNP	0.984	C	C	7863191	G	C	7863191	2	2	147	1	0	0	0	0	0	0	0	1	11755	1277	45	1		1	PER3	1	7863191	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	138643	7863191	241387430	9	23263										
PIK3CD	5293	genome.wustl.edu	37	chr1	9784411	9784411	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaccgcgagcgtgtcccattCatcctcacctacgactttgt	7	15	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:9784411C>T	ENST00000377346.4	+	22	2991	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	PIK3CD_ENST00000361110.2_Silent_p.F956F|PIK3CD_ENST00000536656.1_Silent_p.F956F	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	932	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTGTCCCATTCATCCTCACCT	0.512																																																	0													110	122	118					1																	9784411		2203	4300	6503	SO:0001819	synonymous_variant	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2796C>T	1.37:g.9784411C>T			A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.F956	ENST00000377346.4	37	c.2868	CCDS104.1	1																																																																																			PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.512	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	C	NM_005026		9784411	1	no_errors	ENST00000536656	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9784411	C	T	9784411	2	4	147	1	0	0	0	0	0	0	0	1	11939	825	29	1		1	PIK3CD	1	9784411	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1921220	9784411	239466210	10	23264										
TNFRSF1B	7133	genome.wustl.edu	37	chr1	12266884	12266884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaccacagctcacagtgctCctcccaagccagctccacaa	6	18	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12266884C>A	ENST00000376259.3	+	10	1282	c.1193C>A	c.(1192-1194)tCc>tAc	p.S398Y	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	398					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TCACAGTGCTCCTCCCAAGCC	0.582																																																	0													103	88	93					1																	12266884		2203	4300	6503	SO:0001583	missense	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1193C>A	1.37:g.12266884C>A	ENSP00000365435:p.Ser398Tyr		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.S398Y	ENST00000376259.3	37	c.1193	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336618	0.60963	.	.	ENSG00000028137	ENST00000376259	D	0.89196	-2.48	5.04	5.04	0.67666	.	1.807900	0.02443	N	0.084804	D	0.90926	0.7148	L	0.44542	1.39	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	T	0.80725	-0.1254	10	0.87932	D	0	-1.6508	14.2336	0.65911	0.0:1.0:0.0:0.0	.	398	P20333	TNR1B_HUMAN	Y	398	ENSP00000365435:S398Y	ENSP00000365435:S398Y	S	+	2	0	TNFRSF1B	12189471	0.122000	0.22280	0.923000	0.36655	0.485000	0.33311	3.584000	0.53936	2.497000	0.84241	0.561000	0.74099	TCC	TNFRSF1B	-	NULL		0.582	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	C	NM_001066		12266884	1	no_errors	ENST00000376259	ensembl	human	known	70_37	missense	SNP	0.947	A	A	12266884	C	A	12266884	3	1	147	1	0	0	0	0	1	0	0	0	16324	855	30	3	1231	3	TNFRSF1B	1	12266884	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2482473	12266884	236983737	11	23265										
PRAMEF11	440560	genome.wustl.edu	37	chr1	12884934	12884934	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catcagctcagccctaatttGagcaaatctgctccagcaga	7	13	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12884934G>C	ENST00000535591.1	-	4	1372	c.1177C>G	c.(1177-1179)Caa>Gaa	p.Q393E	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	393					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCCCTAATTTGAGCAAATCTG	0.493																																																	0													68	55	59					1																	12884934		692	1590	2282	SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1177C>G	1.37:g.12884934G>C	ENSP00000439551:p.Gln393Glu			Missense_Mutation	SNP	NULL	p.Q393E	ENST00000535591.1	37	c.1177	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	2.456	-0.325226	0.05350	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.54071	0.59;0.59	1.76	-0.477	0.12097	.	1.896610	0.03048	N	0.154147	T	0.42854	0.1221	L	0.46614	1.455	0.09310	N	1	B	0.29162	0.235	B	0.27380	0.079	T	0.12016	-1.0564	10	0.32370	T	0.25	.	3.1983	0.06641	0.2017:0.3417:0.4567:0.0	.	393	O60813	PRA11_HUMAN	E	393;434;393	ENSP00000439551:Q393E;ENSP00000391839:Q393E	ENSP00000328783:Q434E	Q	-	1	0	PRAMEF11	12807521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.221000	0.09202	-0.128000	0.11641	0.407000	0.27541	CAA	PRAMEF11	-	NULL		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12884934	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.000	C	C	12884934	G	C	12884934	3	2	147	1	0	0	0	0	1	0	0	0	12454	1299	45	1	137	1	PRAMEF11	1	12884934	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	618050	12884934	236365687	12	23266			1	103		3	3	115	G		9.096485e-06
PRAMEF11	440560	genome.wustl.edu	37	chr1	12885022	12885022	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggcataagtttttgagtatGattgtgtggctcagcaggtt	13	4	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12885022G>C	ENST00000535591.1	-	4	1284	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	363					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTTTGAGTATGATTGTGTGGC	0.527																																																	0													53	45	47					1																	12885022		692	1590	2282	SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1089C>G	1.37:g.12885022G>C	ENSP00000439551:p.Ile363Met			Missense_Mutation	SNP	NULL	p.I363M	ENST00000535591.1	37	c.1089	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	8.732	0.916872	0.17907	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.09350	2.99;2.99	1.76	0.821	0.18799	.	3.011770	0.01382	N	0.012969	T	0.16257	0.0391	L	0.44542	1.39	0.09310	N	1	D	0.59357	0.985	P	0.51516	0.672	T	0.10154	-1.0642	10	0.46703	T	0.11	.	4.1204	0.10103	0.2205:0.0:0.7795:0.0	.	363	O60813	PRA11_HUMAN	M	363;404;363	ENSP00000439551:I363M;ENSP00000391839:I363M	ENSP00000328783:I404M	I	-	3	3	PRAMEF11	12807609	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.047000	0.03521	0.286000	0.22352	0.407000	0.27541	ATC	PRAMEF11	-	NULL		0.527	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12885022	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.000	C	C	12885022	G	C	12885022	3	2	147	1	0	0	0	0	1	0	0	0	12454	1280	45	1	225	1	PRAMEF11	1	12885022	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	88	12885022	236365599	13	23267			1	103		3	3	115	G		9.096485e-06
PRAMEF11	440560	genome.wustl.edu	37	chr1	12885048	12885048	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtggctcagcaggttctccaGggtggccatgcagatgggat	16	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12885048G>C	ENST00000535591.1	-	4	1258	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	355					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGTTCTCCAGGGTGGCCATG	0.532																																																	0													35	30	31					1																	12885048		692	1589	2281	SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1063C>G	1.37:g.12885048G>C	ENSP00000439551:p.Leu355Val			Missense_Mutation	SNP	NULL	p.L355V	ENST00000535591.1	37	c.1063	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.330153	0.24167	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.13089	2.62;2.62	1.52	0.401	0.16338	.	0.356685	0.25487	N	0.030334	T	0.32585	0.0834	M	0.85777	2.775	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.06373	-1.0830	10	0.59425	D	0.04	.	4.8835	0.13692	0.0:0.0:0.5533:0.4467	.	355	O60813	PRA11_HUMAN	V	355;396;355	ENSP00000439551:L355V;ENSP00000391839:L355V	ENSP00000328783:L396V	L	-	1	2	PRAMEF11	12807635	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.030000	0.13688	0.102000	0.17638	0.407000	0.27541	CTG	PRAMEF11	-	NULL		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12885048	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.002	C	C	12885048	G	C	12885048	3	2	147	1	0	0	0	0	1	0	0	0	12454	991	35	4	251	4	PRAMEF11	1	12885048	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	26	12885048	236365573	14	23268			1	103		3	3	115	G		9.096485e-06
PRAMEF2	65122	genome.wustl.edu	37	chr1	12921378	12921378	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttggcagcaattgcatgtCtattgacgccctgaaggacc	10	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12921378C>T	ENST00000240189.2	+	4	1256	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	390					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCATGTCTATTGACGCC	0.562																																																	0													107	109	108					1																	12921378		2202	4294	6496	SO:0001583	missense	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1169C>T	1.37:g.12921378C>T	ENSP00000240189:p.Ser390Phe			Missense_Mutation	SNP	NULL	p.S390F	ENST00000240189.2	37	c.1169	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338372	0.24253	.	.	ENSG00000120952	ENST00000240189	T	0.10288	2.89	0.824	0.824	0.18818	.	0.067349	0.64402	D	0.000012	T	0.32645	0.0836	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04281	-1.0963	10	0.87932	D	0	.	5.0044	0.14280	0.0:1.0:0.0:0.0	.	390	O60811	PRAM2_HUMAN	F	390	ENSP00000240189:S390F	ENSP00000240189:S390F	S	+	2	0	PRAMEF2	12843965	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.581000	0.23819	0.748000	0.32831	0.173000	0.16961	TCT	PRAMEF2	-	NULL		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12921378	1	no_errors	ENST00000240189	ensembl	human	known	70_37	missense	SNP	0.003	T	T	12921378	C	T	12921378	3	4	147	1	0	0	0	0	1	0	0	0	12462	913	32	1	1179	1	PRAMEF2	1	12921378	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	36330	12921378	236329243	15	23269										
PRAMEF13	400736	genome.wustl.edu	37	chr1	13448422	13448422	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctccaagatgagggtttcGagagaggcagcaattttctc	11	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:13448422G>C	ENST00000376132.3	-	4	1155	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGTTTCGAGAGAGGCAG	0.547																																																	0													9	9	9					1																	13448422		2015	4148	6163	SO:0001819	synonymous_variant	729528					1p36.21	2013-01-17			ENSG00000204495			"-"	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1053C>G	1.37:g.13448422G>C				Silent	SNP	NULL	p.L351	ENST00000376132.3	37	c.1053	CCDS41257.1	1																																																																																			PRAMEF13	-	NULL		0.547	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	PRAMEF13	HGNC	protein_coding	OTTHUMT00000022040.1	G	XM_375688		13448422	-1	no_errors	ENST00000376132	ensembl	human	known	70_37	silent	SNP	0.002	C	C	13448422	G	C	13448422	2	2	147	1	0	0	0	0	0	0	0	1	12456	1045	37	1		1	PRAMEF13	1	13448422	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	527044	13448422	235802199	16	23270										
TMEM51	55092	genome.wustl.edu	37	chr1	15541866	15541866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaggaagcagcggcagggcGaggacctggcccatgtccag	17	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:15541866G>A	ENST00000428417.1	+	2	729	c.283G>A	c.(283-285)Gag>Aag	p.E95K	TMEM51_ENST00000376014.3_Missense_Mutation_p.E95K|TMEM51_ENST00000434578.2_Missense_Mutation_p.E95K|TMEM51_ENST00000376008.2_Missense_Mutation_p.E95K|TMEM51_ENST00000400796.3_Missense_Mutation_p.E95K	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCGGCAGGGCGAGGACCTGGC	0.652																																																	0													41	36	37					1																	15541866		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.283G>A	1.37:g.15541866G>A	ENSP00000394899:p.Glu95Lys		A8K819	Missense_Mutation	SNP	NULL	p.E95K	ENST00000428417.1	37	c.283	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845464	0.51164	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.43	5.43	0.79202	.	0.341805	0.30501	N	0.009486	T	0.29588	0.0738	L	0.60455	1.87	0.40199	D	0.977498	P;P	0.51791	0.948;0.907	B;B	0.40285	0.325;0.246	T	0.09975	-1.0650	10	0.41790	T	0.15	-3.8406	11.666	0.51374	0.0807:0.0:0.9193:0.0	.	95;95	Q9BSA0;Q9NW97	.;TMM51_HUMAN	K	95	ENSP00000394899:E95K;ENSP00000365182:E95K;ENSP00000412298:E95K;ENSP00000409665:E95K;ENSP00000383600:E95K;ENSP00000365176:E95K	ENSP00000303666:E95K	E	+	1	0	TMEM51	15414453	1.000000	0.71417	0.978000	0.43139	0.554000	0.35429	2.576000	0.46033	2.564000	0.86499	0.655000	0.94253	GAG	TMEM51	-	NULL		0.652	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	G	NM_018022		15541866	1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.981	A	A	15541866	G	A	15541866	3	1	147	1	0	0	0	0	1	0	0	0	16207	1059	37	1	285	1	TMEM51	1	15541866	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2093444	15541866	233708755	17	23271										
SLC25A34	284723	genome.wustl.edu	37	chr1	16064484	16064484	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgtgggacaccagcacaatCaccaggtgaggcctgccact	11	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:16064484C>G	ENST00000294454.5	+	2	520	c.439C>G	c.(439-441)Cac>Gac	p.H147D	SLC25A34_ENST00000489568.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	147					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACAATCACCAGGTGAG	0.642																																																	0													55	58	57					1																	16064484		2202	4300	6502	SO:0001583	missense	284723			BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"Solute carriers"	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.439C>G	1.37:g.16064484C>G	ENSP00000294454:p.His147Asp		Q68DV0	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.H147D	ENST00000294454.5	37	c.439	CCDS162.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365885	0.61513	.	.	ENSG00000162461	ENST00000294454	T	0.78246	-1.16	4.45	4.45	0.53987	Mitochondrial carrier domain (2);	0.238263	0.35936	N	0.002881	D	0.86351	0.5912	M	0.82716	2.605	0.58432	D	0.999999	B	0.34313	0.448	P	0.49597	0.616	D	0.88211	0.2890	10	0.72032	D	0.01	.	15.4461	0.75232	0.0:1.0:0.0:0.0	.	147	Q6PIV7	S2534_HUMAN	D	147	ENSP00000294454:H147D	ENSP00000294454:H147D	H	+	1	0	SLC25A34	15937071	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.132000	0.64758	2.293000	0.77203	0.462000	0.41574	CAC	SLC25A34	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.642	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A34	HGNC	protein_coding	OTTHUMT00000008467.1	C	NM_207348		16064484	1	no_errors	ENST00000294454	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16064484	C	G	16064484	3	3	147	1	0	0	0	0	1	0	0	0	14528	826	29	1	445	1	SLC25A34	1	16064484	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	522618	16064484	233186137	18	23272										
ARHGEF19	128272	genome.wustl.edu	37	chr1	16535523	16535523	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcccagtcaggtggggctgGagggtagcaggtggcccaca	19	10	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:16535523G>C	ENST00000270747.3	-	2	163	c.27C>G	c.(25-27)ctC>ctG	p.L9L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	9					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGGGCTGGAGGGTAGCAG	0.622																																																	0													15	16	16					1																	16535523		2203	4299	6502	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.27C>G	1.37:g.16535523G>C			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L9	ENST00000270747.3	37	c.27	CCDS170.1	1																																																																																			ARHGEF19	-	NULL		0.622	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16535523	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	silent	SNP	1.000	C	C	16535523	G	C	16535523	2	2	147	1	0	0	0	0	0	0	0	1	902	1161	41	1		1	ARHGEF19	1	16535523	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	471039	16535523	232715098	19	23273										
CROCC	9696	genome.wustl.edu	37	chr1	17273258	17273258	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcctacctggcctccagctGgaggaagaaaagtccgccct	10	15	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:17273258G>T	ENST00000375541.5	+	17	2355	c.2286G>T	c.(2284-2286)ctG>ctT	p.L762L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCTCCAGCTGGAGGAAGAAA	0.677																																																	0													15	16	16					1																	17273258		2026	3960	5986	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2286G>T	1.37:g.17273258G>T				Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.L762	ENST00000375541.5	37	c.2286	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17273258	1	no_errors	ENST00000375541	ensembl	human	known	70_37	silent	SNP	0.998	T	T	17273258	G	T	17273258	2	4	147	1	0	0	0	0	0	0	0	1	3898	1335	47	4		4	CROCC	1	17273258	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	737735	17273258	231977363	20	23274										
PADI1	29943	genome.wustl.edu	37	chr1	17567243	17567243	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacttctacgcggaagccttCttcccagacatggtgagagc	10	12	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:17567243C>T	ENST00000375471.4	+	15	1838	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Silent_p.F53F|PADI1_ENST00000537499.1_Silent_p.F139F|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	582					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CGGAAGCCTTCTTCCCAGACA	0.607																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													91	91	91					1																	17567243		2203	4300	6503	SO:0001819	synonymous_variant	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1746C>T	1.37:g.17567243C>T			A1L4K6|Q70SX6	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.F582	ENST00000375471.4	37	c.1746	CCDS178.1	1																																																																																			PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.607	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	C	NM_013358		17567243	1	no_errors	ENST00000375471	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17567243	C	T	17567243	2	4	147	1	0	0	0	0	0	0	0	1	11401	912	32	1		1	PADI1	1	17567243	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	293985	17567243	231683378	21	23275										
CAPZB	832	genome.wustl.edu	37	chr1	19683230	19683230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caacttgtaatgggcggtgcGaccgctggatttctcctgga	13	10	1	0	rs377121153		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:19683230G>A	ENST00000375142.1	-	6	533	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	CAPZB_ENST00000433834.1_Missense_Mutation_p.R192C|CAPZB_ENST00000264202.6_Missense_Mutation_p.R163C|CAPZB_ENST00000375144.1_Missense_Mutation_p.R151C|CAPZB_ENST00000264203.3_Missense_Mutation_p.R189C|CAPZB_ENST00000401084.2_Missense_Mutation_p.R163C	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	163					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TGGGCGGTGCGACCGCTGGAT	0.552																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,4092		0,0,2046	212	219	216		487,565,487	5.4	1	1		216	1,8401		0,1,4200	no	missense,missense,missense	CAPZB	NM_001206540.1,NM_001206541.1,NM_004930.3	180,180,180	0,1,6246	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	163/278,189/261,163/273	19683230	1,12493	2046	4201	6247	SO:0001583	missense	832			U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.487C>T	1.37:g.19683230G>A	ENSP00000364284:p.Arg163Cys		Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta	p.R192C	ENST00000375142.1	37	c.574	CCDS55579.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439099	0.63067	0.0	1.19E-4	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711	.	.	.	5.42	5.42	0.78866	.	0.089951	0.85682	D	0.000000	T	0.80369	0.4610	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.65815	0.987;0.994;0.964;0.995	P;P;P;P	0.61132	0.884;0.853;0.792;0.884	D	0.84412	0.0566	9	0.87932	D	0	-13.8621	12.2888	0.54807	0.0826:0.0:0.9174:0.0	.	192;189;163;151	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	C	163;189;151;163;192;225;163;151	.	ENSP00000264202:R163C	R	-	1	0	CAPZB	19555817	1.000000	0.71417	0.965000	0.40720	0.272000	0.26649	9.172000	0.94808	2.566000	0.86566	0.551000	0.68910	CGC	CAPZB	-	pfam_WASH_F-actin_cap_beta		0.552	CAPZB-003	KNOWN	basic|CCDS	protein_coding	CAPZB	HGNC	protein_coding	OTTHUMT00000007260.1	G			19683230	-1	no_errors	ENST00000433834	ensembl	human	known	70_37	missense	SNP	0.998	A	A	19683230	G	A	19683230	3	1	147	1	0	0	0	0	1	0	0	0	2648	1058	37	1	347	1	CAPZB	1	19683230	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2115987	19683230	229567391	22	23276										
NBL1	4681	genome.wustl.edu	37	chr1	19981643	19981643	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggtgcgaagccaagaacatCacccagatcgtgggccacag	12	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:19981643C>T	ENST00000375136.3	+	2	423	c.120C>T	c.(118-120)atC>atT	p.I40I	MINOS1-NBL1_ENST00000602662.1_Silent_p.I40I|NBL1_ENST00000548815.1_Silent_p.I39I|NBL1_ENST00000289749.2_Silent_p.I75I	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	40	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGAACATCACCCAGATCG	0.632																																																	0													41	33	36					1																	19981643		2203	4300	6503	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.120C>T	1.37:g.19981643C>T			A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.I75	ENST00000375136.3	37	c.225	CCDS196.2	1																																																																																			NBL1	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C		0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	C	NM_005380		19981643	1	no_errors	ENST00000289749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19981643	C	T	19981643	2	4	147	1	0	0	0	0	0	0	0	1	10213	816	29	1		1	NBL1	1	19981643	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	298413	19981643	229268978	23	23277										
HP1BP3	50809	genome.wustl.edu	37	chr1	21083712	21083712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgttctaactggcccctctCtactgctctctgcagagcgt	8	15	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:21083712C>G	ENST00000312239.5	-	9	1067	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	HP1BP3_ENST00000375003.2_Missense_Mutation_p.E158Q	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	310	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGGCCCCTCTCTACTGCTCTC	0.403																																																	0													82	80	80					1																	21083712		2203	4300	6503	SO:0001583	missense	50809			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.928G>C	1.37:g.21083712C>G	ENSP00000312625:p.Glu310Gln		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5	p.E310Q	ENST00000312239.5	37	c.928	CCDS30621.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327264	0.81690	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.24723	1.85;1.85;1.85;1.85;1.84	5.96	5.96	0.96718	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.58354	1.805	0.80722	D	1	P;P	0.36354	0.493;0.549	B;B	0.43413	0.369;0.419	T	0.10660	-1.0620	10	0.72032	D	0.01	-2.6674	20.3866	0.98944	0.0:1.0:0.0:0.0	.	272;310	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	Q	310;272;158;169;310;272	ENSP00000312625:E310Q;ENSP00000364142:E158Q;ENSP00000391721:E169Q;ENSP00000403039:E310Q;ENSP00000402754:E272Q	ENSP00000312625:E310Q	E	-	1	0	HP1BP3	20956299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.371000	0.73119	2.826000	0.97356	0.650000	0.86243	GAG	HP1BP3	-	pfam_Histone_H1/H5,smart_Histone_H1/H5		0.403	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	C	NM_016287		21083712	-1	no_errors	ENST00000312239	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21083712	C	G	21083712	3	3	147	1	0	0	0	0	1	0	0	0	7348	922	32	1	753	1	HP1BP3	1	21083712	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1102069	21083712	228166909	24	23278										
E2F2	1870	genome.wustl.edu	37	chr1	23847437	23847437	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgtcctcagtcaggtgcttGaagctcagagagcagctctg	12	10	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:23847437G>A	ENST00000361729.2	-	4	1131	c.705C>T	c.(703-705)ttC>ttT	p.F235F	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	235	Dimerization. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TCAGGTGCTTGAAGCTCAGAG	0.552																																																	0													116	104	108					1																	23847437		2203	4300	6503	SO:0001819	synonymous_variant	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.705C>T	1.37:g.23847437G>A			B2R9W1|Q7Z6H1	Silent	SNP	pfam_E2F_TDP	p.F235	ENST00000361729.2	37	c.705	CCDS236.1	1																																																																																			E2F2	-	NULL		0.552	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	G	NM_004091		23847437	-1	no_errors	ENST00000361729	ensembl	human	known	70_37	silent	SNP	0.985	A	A	23847437	G	A	23847437	2	1	147	1	0	0	0	0	0	0	0	1	4877	1281	45	1		1	E2F2	1	23847437	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2763725	23847437	225403184	25	23279										
MYOM3	127294	genome.wustl.edu	37	chr1	24384003	24384003	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcaatggtgatggtgacctCtgtccccctcacttccatgc	8	15	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:24384003C>T	ENST00000374434.3	-	37	4327	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E282K|MYOM3_ENST00000330966.7_Missense_Mutation_p.E1392K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1389	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATGGTGACCTCTGTCCCCCTC	0.557																																																	0													103	102	102					1																	24384003		2020	4187	6207	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4165G>A	1.37:g.24384003C>T	ENSP00000363557:p.Glu1389Lys		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1392K	ENST00000374434.3	37	c.4174	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149898	0.37923	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.469233	0.22724	N	0.056401	T	0.41373	0.1156	N	0.02665	-0.54	0.25585	N	0.986759	P;B	0.35923	0.528;0.024	B;B	0.38156	0.266;0.061	T	0.29640	-1.0005	10	0.16896	T	0.51	.	13.258	0.60089	0.0:0.9209:0.0:0.0791	.	1389;282	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	282;1389;1392;283	ENSP00000342689:E282K;ENSP00000363557:E1389K;ENSP00000332670:E1392K	ENSP00000332670:E1392K	E	-	1	0	MYOM3	24256590	0.893000	0.30496	0.943000	0.38184	0.740000	0.42216	2.940000	0.49003	2.436000	0.82500	0.655000	0.94253	GAG	MYOM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.557	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	C	NM_152372		24384003	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	missense	SNP	0.336	T	T	24384003	C	T	24384003	3	4	147	1	0	0	0	0	1	0	0	0	10116	922	32	1	152	1	MYOM3	1	24384003	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	536566	24384003	224866618	26	23280										
GRHL3	57822	genome.wustl.edu	37	chr1	24666196	24666196	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcaacactgtggagcacattGaggaggtggcctataatgca	12	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:24666196G>C	ENST00000350501.5	+	8	1118	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	GRHL3_ENST00000236255.4_Missense_Mutation_p.E336Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.E285Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.E238Q|GRHL3_ENST00000361548.4_Missense_Mutation_p.E331Q	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	331					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCACATTGAGGAGGTGGC	0.537																																																	0													273	252	259					1																	24666196		2203	4300	6503	SO:0001583	missense	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.991G>C	1.37:g.24666196G>C	ENSP00000288955:p.Glu331Gln		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E331Q	ENST00000350501.5	37	c.991	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.205455	0.95033	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.62134	-0.6918	10	0.66056	D	0.02	-44.3412	18.8848	0.92372	0.0:0.0:1.0:0.0	.	285;336;331	A2A297;Q8TE85-2;G3XAF0	.;.;.	Q	331;238;331;285;336	ENSP00000354943:E331Q;ENSP00000340543:E238Q;ENSP00000288955:E331Q;ENSP00000348333:E285Q;ENSP00000236255:E336Q	ENSP00000236255:E336Q	E	+	1	0	GRHL3	24538783	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.995000	0.88328	2.700000	0.92200	0.655000	0.94253	GAG	GRHL3	-	pfam_CP2		0.537	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	G	NM_021180		24666196	1	no_errors	ENST00000350501	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24666196	G	C	24666196	3	2	147	1	0	0	0	0	1	0	0	0	6785	1291	45	1	1057	1	GRHL3	1	24666196	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	282193	24666196	224584425	27	23281										
ARID1A	8289	genome.wustl.edu	37	chr1	27094341	27094341	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agttgtatgagctgggtggtGagcctgagaggaagatgtgg	19	3	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:27094341G>A	ENST00000324856.7	+	11	3420	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ARID1A_ENST00000374152.2_Missense_Mutation_p.E634K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1017K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1017	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.			E -> G (in Ref. 1; AAG33967, 5; AAG17549 and 7; BAA23269). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTGGGTGGTGAGCCTGAGAG	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													170	139	150					1																	27094341		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3049G>A	1.37:g.27094341G>A	ENSP00000320485:p.Glu1017Lys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E1017K	ENST00000324856.7	37	c.3049	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.513893	0.96402	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.63744	-0.06;-0.06;-0.06	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.996;0.998	T	0.76699	-0.2863	10	0.54805	T	0.06	-14.9227	18.8566	0.92255	0.0:0.0:1.0:0.0	.	1017;1017;671	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	K	1017;1017;634	ENSP00000320485:E1017K;ENSP00000387636:E1017K;ENSP00000363267:E634K	ENSP00000320485:E1017K	E	+	1	0	ARID1A	26966928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GAG	ARID1A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27094341	1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27094341	G	A	27094341	3	1	147	1	0	0	0	0	1	0	0	0	913	1291	45	1	3091	1	ARID1A	1	27094341	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2428145	27094341	222156280	28	23282										
ZCCHC17	51538	genome.wustl.edu	37	chr1	31821808	31821808	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctacaaggaatccttctaGaaaaagaaagaaggtgaatg	9	7	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:31821808G>C	ENST00000373714.1	+	7	812	c.551G>C	c.(550-552)aGa>aCa	p.R184T	RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R186T|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R184T|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R176T	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	184						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AATCCTTCTAGAAAAAGAAAG	0.393																																																	0													77	78	77					1																	31821808		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.551G>C	1.37:g.31821808G>C	ENSP00000362819:p.Arg184Thr		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R186T	ENST00000373714.1	37	c.557	CCDS341.1	1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408054	0.42715	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.34	5.34	0.76211	.	0.134533	0.64402	D	0.000002	T	0.58836	0.2150	L	0.44542	1.39	0.26842	N	0.968358	P;D;P	0.57899	0.817;0.981;0.909	B;D;P	0.67231	0.217;0.95;0.587	T	0.51060	-0.8753	9	0.38643	T	0.18	.	14.731	0.69383	0.0:0.0:1.0:0.0	.	186;176;184	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	T	184;184;176;186	.	ENSP00000343557:R184T	R	+	2	0	ZCCHC17	31594395	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.758000	0.47565	2.937000	0.99478	0.650000	0.86243	AGA	ZCCHC17	-	NULL		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC17	HGNC	protein_coding	OTTHUMT00000010665.1	G	NM_016505		31821808	1	no_errors	ENST00000422613	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31821808	G	C	31821808	3	2	147	1	0	0	0	0	1	0	0	0	17615	942	33	1	573	1	ZCCHC17	1	31821808	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4727467	31821808	217428813	29	23283										
DCDC2B	149069	genome.wustl.edu	37	chr1	32678163	32678163	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggccattactatgtggctgtCggagaggatgagttcaagga	15	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:32678163C>T	ENST00000409358.1	+	5	600	c.600C>T	c.(598-600)gtC>gtT	p.V200V		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	200	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.V200V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGTGGCTGTCGGAGAGGATG	0.597																																																	1	Substitution - coding silent(1)	breast(1)											75	80	79					1																	32678163		1985	4160	6145	SO:0001819	synonymous_variant	149069			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.600C>T	1.37:g.32678163C>T			B7ZBC6	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V200	ENST00000409358.1	37	c.600	CCDS44100.1	1																																																																																			DCDC2B	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.597	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2B	HGNC	protein_coding	OTTHUMT00000328293.1	C	XM_940631		32678163	1	no_errors	ENST00000409358	ensembl	human	known	70_37	silent	SNP	0.498	T	T	32678163	C	T	32678163	2	4	147	1	0	0	0	0	0	0	0	1	4291	871	31	1		1	DCDC2B	1	32678163	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	856355	32678163	216572458	30	23284										
KIAA1522	57648	genome.wustl.edu	37	chr1	33237475	33237475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggtgctccaggaggggctCccaccccagcactggggcca	15	15	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:33237475C>G	ENST00000373480.1	+	6	2621	c.2518C>G	c.(2518-2520)Ccc>Gcc	p.P840A	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P899A|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P851A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	840	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGAGGGGCTCCCACCCCAGC	0.731																																																	0													8	10	10					1																	33237475		1906	4100	6006	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2518C>G	1.37:g.33237475C>G	ENSP00000362579:p.Pro840Ala		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	NULL	p.P899A	ENST00000373480.1	37	c.2695	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	C	4.011	-0.000581	0.07819	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.12255	2.7;2.7;2.7	4.98	1.94	0.25998	.	0.493569	0.18310	N	0.145153	T	0.14141	0.0342	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.19160	-1.0314	10	0.32370	T	0.25	-0.0059	12.4601	0.55727	0.0:0.711:0.2218:0.0672	.	851;840;899	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	A	899;851;840	ENSP00000383851:P899A;ENSP00000362580:P851A;ENSP00000362579:P840A	ENSP00000362579:P840A	P	+	1	0	KIAA1522	33010062	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.683000	0.05179	-0.033000	0.13736	-0.813000	0.03139	CCC	KIAA1522	-	NULL		0.731	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	C			33237475	1	no_errors	ENST00000401073	ensembl	human	known	70_37	missense	SNP	0.000	G	G	33237475	C	G	33237475	3	3	147	1	0	0	0	0	1	0	0	0	8258	855	30	1	2717	1	KIAA1522	1	33237475	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	559312	33237475	216013146	31	23285										
KIAA1522	57648	genome.wustl.edu	37	chr1	33237623	33237623	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggccgccagtgaaggcctctCaagtgctcagcccaacggac	12	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:33237623C>G	ENST00000373480.1	+	6	2769	c.2666C>G	c.(2665-2667)tCa>tGa	p.S889*	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Nonsense_Mutation_p.S948*|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S900*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	889	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAAGGCCTCTCAAGTGCTCAG	0.677																																																	0													16	19	18					1																	33237623		1971	4146	6117	SO:0001587	stop_gained	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2666C>G	1.37:g.33237623C>G	ENSP00000362579:p.Ser889*		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Nonsense_Mutation	SNP	NULL	p.S948*	ENST00000373480.1	37	c.2843	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136867	0.56936	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	.	.	.	5.21	-10.4	0.00318	.	2.859380	0.01174	N	0.006938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	8.865	15.8786	0.79185	0.0:0.5044:0.3853:0.1104	.	.	.	.	X	948;900;889	.	ENSP00000362579:S889X	S	+	2	0	KIAA1522	33010210	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.176000	0.00571	-3.154000	0.00230	-0.142000	0.14014	TCA	KIAA1522	-	NULL		0.677	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	C			33237623	1	no_errors	ENST00000401073	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	33237623	C	G	33237623	4	3	147	1	0	0	0	0	0	1	0	0	8258	838	29	1	2865	1	KIAA1522	1	33237623	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	148	33237623	216012998	32	23286										
CSF3R	1441	genome.wustl.edu	37	chr1	36932371	36932371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggcttcttttcatcctcctCcagcactgtgagcttggtga	9	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:36932371C>G	ENST00000373106.1	-	17	2645	c.2098G>C	c.(2098-2100)Gag>Cag	p.E700Q	CSF3R_ENST00000361632.4_Missense_Mutation_p.E700Q|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000373103.1_Missense_Mutation_p.E727Q|CSF3R_ENST00000440588.2_Missense_Mutation_p.E727Q|CSF3R_ENST00000418048.2_Missense_Mutation_p.E700Q|CSF3R_ENST00000331941.5_Missense_Mutation_p.E700Q|CSF3R_ENST00000338937.5_Missense_Mutation_p.W668C|CSF3R_ENST00000373104.1_Missense_Mutation_p.E700Q|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	700					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCATCCTCCTCCAGCACTGTG	0.607																																																	0													61	66	64					1																	36932371		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2098G>C	1.37:g.36932371C>G	ENSP00000362198:p.Glu700Gln			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E727Q	ENST00000373106.1	37	c.2179	CCDS413.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.58|14.58	2.577218|2.577218	0.45902|0.45902	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588|ENST00000464465;ENST00000338937	T;T;T;T;T;T;T|T	0.58940|0.30448	0.51;0.3;0.34;0.51;0.3;0.51;0.34|1.53	5.81|5.81	3.62|3.62	0.41486|0.41486	.|.	0.217710|.	0.15577|.	U|.	0.255159|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.60455|0.60455	1.87|1.87	0.40117|0.40117	D|D	0.976559|0.976559	D;D;D;D|D	0.76494|0.67145	0.997;0.999;0.997;0.999|0.996	P;D;P;D|P	0.67382|0.57371	0.895;0.951;0.895;0.951|0.819	T|T	0.44143|0.44143	-0.9347|-0.9347	10|9	0.54805|0.62326	T|D	0.06|0.03	-8.8565|-8.8565	10.7824|10.7824	0.46386|0.46386	0.0:0.824:0.0:0.176|0.0:0.824:0.0:0.176	.|.	700;727;700;700|668	Q1ZYL6;Q99062-3;Q99062;Q99062-4|E1B6W6	.;.;CSF3R_HUMAN;.|.	Q|C	700;700;727;700;700;700;727|251;668	ENSP00000362198:E700Q;ENSP00000362196:E700Q;ENSP00000362195:E727Q;ENSP00000355406:E700Q;ENSP00000332180:E700Q;ENSP00000401588:E700Q;ENSP00000397568:E727Q|ENSP00000345013:W668C	ENSP00000332180:E700Q|ENSP00000345013:W668C	E|W	-|-	1|3	0|0	CSF3R|CSF3R	36704958|36704958	0.965000|0.965000	0.33210|0.33210	1.000000|1.000000	0.80357|0.80357	0.168000|0.168000	0.22595|0.22595	0.948000|0.948000	0.29096|0.29096	1.464000|1.464000	0.47987|0.47987	-0.140000|-0.140000	0.14226|0.14226	GAG|TGG	CSF3R	-	NULL		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	C	NM_156039		36932371	-1	no_errors	ENST00000373103	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36932371	C	G	36932371	3	3	147	1	0	0	0	0	1	0	0	0	3942	865	30	1	525	1	CSF3R	1	36932371	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3694748	36932371	212318250	33	23287										
MACF1	23499	genome.wustl.edu	37	chr1	39853530	39853530	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggccaaaacagggtcactcGaagaaatgactcagaggctc	11	10	2	3	rs372693965		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:39853530G>T	ENST00000372915.3	+	57	15118	c.15031G>T	c.(15031-15033)Gaa>Taa	p.E5011*	MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3446*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E2944*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E2923*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5043*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E2944*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E5006*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E2944*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5011					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGTCACTCGAAGAAATGAC	0.463																																																	0													66	68	67					1																	39853530		2203	4300	6503	SO:0001587	stop_gained	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15031G>T	1.37:g.39853530G>T	ENSP00000362006:p.Glu5011*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2944*	ENST00000372915.3	37	c.8830		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.698022|12.698022	0.99689|0.99689	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.088183|.	0.49305|.	D|.	0.000160|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.31617|.	T|.	0.26|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	2944;5011;2944;2944;2923;3446|2056	.|.	ENSP00000289893:E3446X|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39626117|39626117	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.974000|0.974000	0.67602|0.67602	9.750000|9.750000	0.98875|0.98875	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|CGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39853530	1	no_errors	ENST00000317713	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	39853530	G	T	39853530	4	4	147	1	0	0	0	0	0	1	0	0	9167	1059	37	3	15191	3	MACF1	1	39853530	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2921159	39853530	209397091	34	23288										
KIAA0754	643314	genome.wustl.edu	37	chr1	39878915	39878915	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctgatactgcagctgtcaGagtgtccaccccagaggagc	12	13	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:39878915G>C	ENST00000530275.1	+	1	2765	c.2570G>C	c.(2569-2571)aGa>aCa	p.R857T	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	857	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTGTCAGAGTGTCCACC	0.637																																																	0													23	28	26					1																	39878915		2011	4174	6185	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2570G>C	1.37:g.39878915G>C	ENSP00000431179:p.Arg857Thr		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.R857T	ENST00000530275.1	37	c.2570		1	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123566	0.08931	.	.	ENSG00000255103	ENST00000530275	T	0.23348	1.91	4.11	-8.21	0.01041	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33214	-0.9877	9	0.26408	T	0.33	.	8.2722	0.31851	0.0849:0.1167:0.5879:0.2106	.	857	O94854	K0754_HUMAN	T	857	ENSP00000431179:R857T	ENSP00000431179:R857T	R	+	2	0	RP4-562N20.1	39651502	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-3.540000	0.00437	-2.232000	0.00717	0.313000	0.20887	AGA	KIAA0754	-	NULL		0.637	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39878915	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.000	C	C	39878915	G	C	39878915	3	2	147	1	0	0	0	0	1	0	0	0	8212	942	33	1	2980	1	KIAA0754	1	39878915	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	25385	39878915	209371706	35	23289										
CCDC30	728621	genome.wustl.edu	37	chr1	43111938	43111938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgcagaactccagcatgagGatgagtcagttcctgaggcc	12	10	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:43111938G>T	ENST00000340612.4	+	13	2023	c.2023G>T	c.(2023-2025)Gat>Tat	p.D675Y	CCDC30_ENST00000390640.4_Missense_Mutation_p.D464Y|CCDC30_ENST00000428554.2_Missense_Mutation_p.D675Y|CCDC30_ENST00000507855.1_Missense_Mutation_p.D464Y|CCDC30_ENST00000342022.4_Missense_Mutation_p.D675Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	675						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ccagcatgaggatgagtcagt	0.488																																																	0													50	40	43					1																	43111938		2082	4095	6177	SO:0001583	missense	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2023G>T	1.37:g.43111938G>T	ENSP00000340378:p.Asp675Tyr		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.D675Y	ENST00000340612.4	37	c.2023	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119176	0.08881	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	0.427	0.427	0.16489	.	.	.	.	.	T	0.49423	0.1556	L	0.43152	1.355	0.09310	N	1	D;P	0.58970	0.984;0.921	D;B	0.65323	0.934;0.163	T	0.33879	-0.9851	8	0.62326	D	0.03	.	.	.	.	.	675;464	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Y	675;464;675;675;464	ENSP00000397035:D675Y;ENSP00000426711:D464Y;ENSP00000340378:D675Y;ENSP00000339280:D675Y;ENSP00000375051:D464Y	ENSP00000340378:D675Y	D	+	1	0	CCDC30	42884525	0.293000	0.24371	0.043000	0.18650	0.044000	0.14063	0.356000	0.20181	0.458000	0.26988	0.467000	0.42956	GAT	CCDC30	-	NULL		0.488	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	G	NM_025030		43111938	1	no_errors	ENST00000340612	ensembl	human	known	70_37	missense	SNP	0.055	T	T	43111938	G	T	43111938	3	4	147	1	0	0	0	0	1	0	0	0	2810	1174	41	3	2073	3	CCDC30	1	43111938	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3233023	43111938	206138683	36	23290										
BEST4	266675	genome.wustl.edu	37	chr1	45253357	45253357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagcgggcctccgccactttGagagtgtatgaaaccgtcat	11	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:45253357G>A	ENST00000372207.3	-	1	20	c.21C>T	c.(19-21)ctC>ctT	p.L7L		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	7						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CCGCCACTTTGAGAGTGTATG	0.577																																																	0													51	61	57					1																	45253357		2203	4300	6503	SO:0001819	synonymous_variant	266675			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.21C>T	1.37:g.45253357G>A			Q5JR93	Silent	SNP	pfam_Bestrophin/UPF0187	p.L7	ENST00000372207.3	37	c.21	CCDS514.1	1																																																																																			BEST4	-	NULL		0.577	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST4	HGNC	protein_coding	OTTHUMT00000023425.1	G	NM_153274		45253357	-1	no_errors	ENST00000372207	ensembl	human	known	70_37	silent	SNP	0.917	A	A	45253357	G	A	45253357	2	1	147	1	0	0	0	0	0	0	0	1	1408	1277	45	1		1	BEST4	1	45253357	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2141419	45253357	203997264	37	23291										
PIK3R3	8503	genome.wustl.edu	37	chr1	46512224	46512224	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtatagagagaacttactCatcagcatcctcattcttaa	6	9	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:46512224C>T	ENST00000262741.5	-	8	1704	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	PIK3R3_ENST00000420542.1_Splice_Site_p.E339K|PIK3R3_ENST00000540385.1_Splice_Site_p.E385K|PIK3R3_ENST00000354242.4_Splice_Site_p.E280K|PIK3R3_ENST00000423209.1_Splice_Site_p.E280K|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000340332.6_Splice_Site_p.E244K|PIK3R3_ENST00000372006.1_Splice_Site_p.E339K|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	339					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGAACTTACTCATCAGCATCC	0.428																																																	0													172	163	166					1																	46512224		2203	4300	6503	SO:0001630	splice_region_variant	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1016+1G>A	1.37:g.46512224C>T			B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.E385K	ENST00000262741.5	37	c.1153	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129848	0.77549	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.85484	-1.27;-1.27;-1.27;-1.39;-1.99;-1.26;-1.39	5.1	5.1	0.69264	.	0.420768	0.27932	N	0.017279	T	0.76644	0.4016	N	0.14661	0.345	0.58432	D	0.999999	B;B;B;B	0.25048	0.117;0.023;0.015;0.036	B;B;B;B	0.31946	0.138;0.045;0.02;0.06	T	0.70114	-0.4961	10	0.13470	T	0.59	-7.4202	19.0925	0.93233	0.0:1.0:0.0:0.0	.	385;372;280;339	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	339;339;339;280;244;385;280	ENSP00000361075:E339K;ENSP00000262741:E339K;ENSP00000412546:E339K;ENSP00000346188:E280K;ENSP00000342484:E244K;ENSP00000439913:E385K;ENSP00000391431:E280K	ENSP00000262741:E339K	E	-	1	0	PIK3R3	46284811	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.591000	0.82666	2.824000	0.97209	0.655000	0.94253	GAG	PIK3R3	-	NULL		0.428	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	C	NM_003629	Missense_Mutation	46512224	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46512224	C	T	46512224	5	4	147	1	0	0	0	0	0	0	1	0	11944	840	29	1	382	1	PIK3R3	1	46512224	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1258867	46512224	202738397	38	23292										
LRRC41	10489	genome.wustl.edu	37	chr1	46745946	46745946	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatggaagctcagtcttttCagggctaggttgtactctgg	12	8	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:46745946C>G	ENST00000343304.6	-	7	2223	c.1938G>C	c.(1936-1938)ctG>ctC	p.L646L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	646					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCAGTCTTTTCAGGGCTAGGT	0.493																																																	0													127	117	120					1																	46745946		2203	4300	6503	SO:0001819	synonymous_variant	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1938G>C	1.37:g.46745946C>G			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L646	ENST00000343304.6	37	c.1938	CCDS533.1	1																																																																																			LRRC41	-	NULL		0.493	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46745946	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	silent	SNP	0.999	G	G	46745946	C	G	46745946	2	3	147	1	0	0	0	0	0	0	0	1	9022	813	29	1		1	LRRC41	1	46745946	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	233722	46745946	202504675	39	23293										
STIL	6491	genome.wustl.edu	37	chr1	47753326	47753326	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggatttttgtcaggaggttCaacattctgaaatgaagtag	11	4	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:47753326C>A	ENST00000360380.3	-	11	1393	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	STIL_ENST00000243182.6_Nonsense_Mutation_p.E344*|STIL_ENST00000337817.5_Nonsense_Mutation_p.E344*|STIL_ENST00000396221.2_Nonsense_Mutation_p.E344*|STIL_ENST00000371877.3_Nonsense_Mutation_p.E344*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	344					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGGAGGTTCAACATTCTGA	0.348																																																	0													60	58	59					1																	47753326		2202	4300	6502	SO:0001587	stop_gained	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1030G>T	1.37:g.47753326C>A	ENSP00000353544:p.Glu344*		Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	NULL	p.E344*	ENST00000360380.3	37	c.1030	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.196879	0.98129	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.51	5.51	0.81932	.	0.097206	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6308	17.959	0.89079	0.0:1.0:0.0:0.0	.	.	.	.	X	344;344;344;344;344;297	.	ENSP00000243182:E344X	E	-	1	0	STIL	47525913	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.853000	0.62911	2.749000	0.94314	0.460000	0.39030	GAA	STIL	-	NULL		0.348	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	C	NM_003035		47753326	-1	no_errors	ENST00000371877	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	47753326	C	A	47753326	4	1	147	1	0	0	0	0	0	1	0	0	15312	835	29	3	2868	3	STIL	1	47753326	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1007380	47753326	201497295	40	23294										
OSBPL9	114883	genome.wustl.edu	37	chr1	52179728	52179728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgccttagaagaaacaattCttcgacatactctccagctt	5	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:52179728C>G	ENST00000428468.1	+	4	297	c.295C>G	c.(295-297)Ctt>Gtt	p.L99V	OSBPL9_ENST00000371714.1_Missense_Mutation_p.L99V|OSBPL9_ENST00000453295.1_Missense_Mutation_p.L82V|OSBPL9_ENST00000530544.1_Missense_Mutation_p.L31V|OSBPL9_ENST00000337809.4_Missense_Mutation_p.L117V|OSBPL9_ENST00000371710.3_Missense_Mutation_p.L117V|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000447887.1_Missense_Mutation_p.L99V			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.L99I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AGAAACAATTCTTCGACATAC	0.328																																																	1	Substitution - Missense(1)	ovary(1)											88	84	85					1																	52179728		1849	4096	5945	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.295C>G	1.37:g.52179728C>G	ENSP00000407168:p.Leu99Val		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L117V	ENST00000428468.1	37	c.349	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860068	0.71834	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544	T;T;T;T;T	0.15139	2.46;2.67;2.69;2.54;2.45	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.78801	2.425	0.80722	D	1	B;D;P;B	0.89917	0.411;1.0;0.878;0.211	B;D;B;B	0.85130	0.101;0.997;0.396;0.111	T	0.12967	-1.0527	10	0.49607	T	0.09	-16.659	12.465	0.55753	0.0:0.9222:0.0:0.0778	.	82;105;99;117	Q86YQ3;B1AKJ7;Q96SU4;B1AKJ6	.;.;OSBL9_HUMAN;.	V	99;117;117;99;99;82;31	ENSP00000360779:L99V;ENSP00000360775:L117V;ENSP00000337265:L117V;ENSP00000412733:L99V;ENSP00000407168:L99V	ENSP00000337265:L117V	L	+	1	0	OSBPL9	51952316	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.962000	0.56766	2.890000	0.99128	0.650000	0.86243	CTT	OSBPL9	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.328	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	C			52179728	1	no_errors	ENST00000371710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52179728	C	G	52179728	3	3	147	1	0	0	0	0	1	0	0	0	11308	913	32	1	309	1	OSBPL9	1	52179728	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4426402	52179728	197070893	41	23295										
LRRC42	115353	genome.wustl.edu	37	chr1	54417789	54417789	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtgtcaggagtagcctgcaGaagccaaggcctttcagact	13	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:54417789G>A	ENST00000371370.3	+	3	638	c.117G>A	c.(115-117)caG>caA	p.Q39Q	LRRC42_ENST00000319223.4_Silent_p.Q39Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	39										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GTAGCCTGCAGAAGCCAAGGC	0.522																																																	0													79	79	79					1																	54417789		2203	4300	6503	SO:0001819	synonymous_variant	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.117G>A	1.37:g.54417789G>A			D3DQ46|Q8N2Q8	Silent	SNP	NULL	p.Q39	ENST00000371370.3	37	c.117	CCDS585.1	1																																																																																			LRRC42	-	NULL		0.522	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	G	NM_052940		54417789	1	no_errors	ENST00000319223	ensembl	human	known	70_37	silent	SNP	0.985	A	A	54417789	G	A	54417789	2	1	147	1	0	0	0	0	0	0	0	1	9023	933	33	1		1	LRRC42	1	54417789	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2238061	54417789	194832832	42	23296										
SGIP1	84251	genome.wustl.edu	37	chr1	67139039	67139039	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaatcagcttttgatgaacaGaagacagaaggtaggaaaag	12	4	1	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:67139039G>C	ENST00000371037.4	+	12	713	c.636G>C	c.(634-636)caG>caC	p.Q212H	SGIP1_ENST00000237247.6_Missense_Mutation_p.Q216H|SGIP1_ENST00000371035.3_Missense_Mutation_p.Q169H|SGIP1_ENST00000371036.3_Missense_Mutation_p.Q179H|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.Q180H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	212	Pro-rich.			Q -> R (in Ref. 3; CAH18344). {ECO:0000305}.	endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTGATGAACAGAAGACAGAAG	0.353																																																	0													138	144	142					1																	67139039		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.636G>C	1.37:g.67139039G>C	ENSP00000360076:p.Gln212His		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.Q216H	ENST00000371037.4	37	c.648	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688564	0.29962	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05;4.05	5.73	4.82	0.62117	.	0.227351	0.46145	D	0.000303	T	0.01592	0.0051	L	0.36672	1.1	0.22648	N	0.998893	B	0.33379	0.41	B	0.38712	0.28	T	0.47368	-0.9123	10	0.30854	T	0.27	-10.3965	9.8045	0.40783	0.1572:0.0:0.8428:0.0	.	212	Q9BQI5	SGIP1_HUMAN	H	216;180;204;169;215;215;179;212	ENSP00000237247:Q216H;ENSP00000360078:Q180H;ENSP00000410439:Q204H;ENSP00000360074:Q169H;ENSP00000360075:Q179H;ENSP00000360076:Q212H	ENSP00000237247:Q216H	Q	+	3	2	SGIP1	66911627	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.024000	0.49674	1.441000	0.47550	-0.145000	0.13849	CAG	SGIP1	-	NULL		0.353	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67139039	1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67139039	G	C	67139039	3	2	147	1	0	0	0	0	1	0	0	0	14236	933	33	1	682	1	SGIP1	1	67139039	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12721250	67139039	182111582	43	23297										
RPE65	6121	genome.wustl.edu	37	chr1	68896970	68896970	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaaggattaattaccctatCtggaacaaagtgattcaagc	8	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:68896970C>G	ENST00000262340.5	-	12	1386	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	445					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATTACCCTATCTGGAACAAAG	0.343																																																	0													83	78	79					1																	68896970		2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1333G>C	1.37:g.68896970C>G	ENSP00000262340:p.Asp445His		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.D445H	ENST00000262340.5	37	c.1333	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275269	0.80580	.	.	ENSG00000116745	ENST00000262340	D	0.95690	-3.78	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.72032	D	0.01	0.3655	18.5925	0.91218	0.0:1.0:0.0:0.0	.	445	Q16518	RPE65_HUMAN	H	445	ENSP00000262340:D445H	ENSP00000262340:D445H	D	-	1	0	RPE65	68669558	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.410000	0.80065	2.412000	0.81896	0.555000	0.69702	GAT	RPE65	-	pfam_Carotenoid_Oase		0.343	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	C	NM_000329		68896970	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68896970	C	G	68896970	3	3	147	1	0	0	0	0	1	0	0	0	13575	913	32	1	280	1	RPE65	1	68896970	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1757931	68896970	180353651	44	23298										
PTGER3	5733	genome.wustl.edu	37	chr1	71512886	71512886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggtgcagagccgccccgaCgggtcgatgtgctcccaacg	14	14	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:71512886C>T	ENST00000306666.5	-	1	585	c.375G>A	c.(373-375)ccG>ccA	p.P125P	PTGER3_ENST00000356595.4_Silent_p.P125P|PTGER3_ENST00000351052.5_Silent_p.P125P|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Silent_p.P125P|PTGER3_ENST00000460330.1_Silent_p.P125P|PTGER3_ENST00000354608.5_Silent_p.P125P|PTGER3_ENST00000370932.2_Silent_p.P125P|PTGER3_ENST00000370931.3_Silent_p.P125P|PTGER3_ENST00000370924.4_Silent_p.P125P	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	125					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCGCCCCGACGGGTCGATGT	0.657																																																	0													27	26	26					1																	71512886		2195	4296	6491	SO:0001819	synonymous_variant	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.375G>A	1.37:g.71512886C>T			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.P125	ENST00000306666.5	37	c.375	CCDS657.1	1																																																																																			PTGER3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt		0.657	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	C	NM_000957		71512886	-1	no_errors	ENST00000354608	ensembl	human	known	70_37	silent	SNP	0.992	T	T	71512886	C	T	71512886	2	4	147	1	0	0	0	0	0	0	0	1	12772	523	19	2		2	PTGER3	1	71512886	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2615916	71512886	177737735	45	23299										
SLC44A5	204962	genome.wustl.edu	37	chr1	75699774	75699774	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caactaaggaccatggcaatCgtcaggccactagaaaaaac	8	11	1	1	rs201160398		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:75699774C>G	ENST00000370855.5	-	12	863	c.750G>C	c.(748-750)acG>acC	p.T250T	SLC44A5_ENST00000370859.3_Silent_p.T250T|SLC44A5_ENST00000535611.1_Silent_p.T120T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	250					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCATGGCAATCGTCAGGCCAC	0.378																																																	0													97	96	96					1																	75699774		2203	4300	6503	SO:0001819	synonymous_variant	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.750G>C	1.37:g.75699774C>G			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	pfam_Choline_transptr-like	p.T250	ENST00000370855.5	37	c.750	CCDS667.1	1																																																																																			SLC44A5	-	NULL		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	C	NM_152697		75699774	-1	no_errors	ENST00000370855	ensembl	human	known	70_37	silent	SNP	0.000	G	G	75699774	C	G	75699774	2	3	147	1	0	0	0	0	0	0	0	1	14669	871	31	1		1	SLC44A5	1	75699774	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4186888	75699774	173550847	46	23300										
ACADM	34	genome.wustl.edu	37	chr1	76226834	76226834	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caatatcatttatgctggctGaaatggcaatgaaagttgaa	9	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226834G>T	ENST00000370841.4	+	11	1410	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	ACADM_ENST00000420607.2_Nonsense_Mutation_p.E329*|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Nonsense_Mutation_p.E358*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.E289*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.E136*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	325					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TATGCTGGCTGAAATGGCAAT	0.343																																																	0													68	67	68					1																	76226834		2203	4300	6503	SO:0001587	stop_gained	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.973G>T	1.37:g.76226834G>T	ENSP00000359878:p.Glu325*		Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E329*	ENST00000370841.4	37	c.985	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.005585	0.98605	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.3	5.3	0.74995	.	0.156269	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9054	0.88917	0.0:0.0:1.0:0.0	.	.	.	.	X	325;358;289;136;329	.	ENSP00000359871:E358X	E	+	1	0	ACADM	75999422	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.116000	0.94341	2.631000	0.89168	0.655000	0.94253	GAA	ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.343	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226834	1	no_errors	ENST00000420607	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	76226834	G	T	76226834	4	4	147	1	0	0	0	0	0	1	0	0	113	1291	45	3	1027	3	ACADM	1	76226834	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	527060	76226834	173023787	47	23301			2	104	63341786	4	3	150	N	G	1.555812e-05
ACADM	34	genome.wustl.edu	37	chr1	76226875	76226875	+	Missense_Mutation	SNP	G	G	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctagctagaatgagttaccaGagagcagcttgggaggttga					rs543790339		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226875G>T	ENST00000370841.4	+	11	1451	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	ACADM_ENST00000420607.2_Missense_Mutation_p.Q342H|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.Q371H|ACADM_ENST00000541113.1_Missense_Mutation_p.Q302H|ACADM_ENST00000543667.1_Missense_Mutation_p.Q149H	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	338					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TGAGTTACCAGAGAGCAGCTT	0.368																																																	0													105	105	105					1																	76226875		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1014G>T	1.37:g.76226875G>T	ENSP00000359878:p.Gln338His		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q342H	ENST00000370841.4	37	c.1026	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037899	0.35989	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.3	3.44	0.39384	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.057818	0.64402	D	0.000001	T	0.81079	0.4748	N	0.03177	-0.4	0.58432	D	0.999999	B;B;B;B;B	0.24721	0.11;0.014;0.005;0.028;0.034	B;B;B;B;B	0.26416	0.069;0.025;0.021;0.025;0.042	T	0.77427	-0.2592	10	0.59425	D	0.04	.	10.8392	0.46704	0.1548:0.0:0.8452:0.0	.	302;252;371;342;338	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	H	338;371;302;149;342	ENSP00000359878:Q338H;ENSP00000359871:Q371H;ENSP00000442324:Q302H;ENSP00000446176:Q149H;ENSP00000409612:Q342H	ENSP00000359871:Q371H	Q	+	3	2	ACADM	75999463	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.321000	0.51999	0.734000	0.32515	-0.137000	0.14449	CAG	ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.368	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226875	1	no_errors	ENST00000420607	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76226875	G	T	76226875	3	4	147	1	0	0	0	0	1	0	0	0	113	933	33	3	1068	3	ACADM	1	76226875	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	41	76226875	173023746	48	23302	128	2	2	104	63341786	4	3	150	N	G	1.555812e-05
ACADM	34	genome.wustl.edu	37	chr1	76226877	76226877	+	Missense_Mutation	SNP	G	G	A													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agctagaatgagttaccagaGagcagcttgggaggttgatt							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226877G>A	ENST00000370841.4	+	11	1453	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K	ACADM_ENST00000420607.2_Missense_Mutation_p.R343K|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.R372K|ACADM_ENST00000541113.1_Missense_Mutation_p.R303K|ACADM_ENST00000543667.1_Missense_Mutation_p.R150K	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	339					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGTTACCAGAGAGCAGCTTGG	0.373																																																	0													108	107	107					1																	76226877		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1016G>A	1.37:g.76226877G>A	ENSP00000359878:p.Arg339Lys		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.R343K	ENST00000370841.4	37	c.1028	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751495	0.31046	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	5.3	5.3	0.74995	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.093945	0.64402	D	0.000002	D	0.85656	0.5747	N	0.17674	0.51	0.58432	D	0.999999	B;B;B;B;B	0.16603	0.018;0.001;0.017;0.002;0.002	B;B;B;B;B	0.26310	0.055;0.027;0.035;0.027;0.068	T	0.81976	-0.0686	10	0.06494	T	0.89	.	17.9054	0.88917	0.0:0.0:1.0:0.0	.	303;253;372;343;339	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	K	339;372;303;150;343	ENSP00000359878:R339K;ENSP00000359871:R372K;ENSP00000442324:R303K;ENSP00000446176:R150K;ENSP00000409612:R343K	ENSP00000359871:R372K	R	+	2	0	ACADM	75999465	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.116000	0.94341	2.631000	0.89168	0.655000	0.94253	AGA	ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.373	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226877	1	no_errors	ENST00000420607	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76226877	G	A	76226877	3	1	147	1	0	0	0	0	1	0	0	0	113	942	33	1	1070	1	ACADM	1	76226877	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2	76226877	173023744	49	23303	128	2	2	104	63341786	4	3	150	N	G	1.555812e-05
ACADM	34	genome.wustl.edu	37	chr1	76226983	76226983	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttagctactgatgctgtgcaGatacttggaggcaatggatt	12	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226983G>A	ENST00000370841.4	+	11	1559	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	ACADM_ENST00000420607.2_Silent_p.Q378Q|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Silent_p.Q407Q|ACADM_ENST00000541113.1_Silent_p.Q338Q|ACADM_ENST00000543667.1_Silent_p.Q185Q	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	374					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ATGCTGTGCAGATACTTGGAG	0.373																																																	0													150	142	145					1																	76226983		2203	4300	6503	SO:0001819	synonymous_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1122G>A	1.37:g.76226983G>A			Q5T4U4|Q9NYF1	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q378	ENST00000370841.4	37	c.1134	CCDS668.1	1																																																																																			ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.373	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226983	1	no_errors	ENST00000420607	ensembl	human	known	70_37	silent	SNP	0.997	A	A	76226983	G	A	76226983	2	1	147	1	0	0	0	0	0	0	0	1	113	933	33	1		1	ACADM	1	76226983	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	106	76226983	173023638	50	23304			2	104	63341786	4	3	150	N	G	1.555812e-05
MSH4	4438	genome.wustl.edu	37	chr1	76282183	76282183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acagacagccatgatagattCatcatcagcccaaaaccttg	6	12	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76282183C>T	ENST00000263187.3	+	6	1045	c.941C>T	c.(940-942)tCa>tTa	p.S314L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	314					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATGATAGATTCATCATCAGCC	0.279								Mismatch excision repair (MMR)																																									0													60	62	61					1																	76282183		2203	4300	6503	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.941C>T	1.37:g.76282183C>T	ENSP00000263187:p.Ser314Leu		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.S314L	ENST00000263187.3	37	c.941	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731580	0.30684	.	.	ENSG00000057468	ENST00000263187	D	0.91792	-2.91	5.44	5.44	0.79542	DNA mismatch repair protein MutS, connector (1);DNA mismatch repair protein MutS, core (1);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.47716	1.5	0.50632	D	0.999885	B	0.25486	0.127	B	0.31869	0.137	D	0.86630	0.1885	10	0.72032	D	0.01	-7.6423	19.2675	0.93996	0.0:1.0:0.0:0.0	.	314	O15457	MSH4_HUMAN	L	314	ENSP00000263187:S314L	ENSP00000263187:S314L	S	+	2	0	MSH4	76054771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.573000	0.86826	0.655000	0.94253	TCA	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	C	NM_002440		76282183	1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76282183	C	T	76282183	3	4	147	1	0	0	0	0	1	0	0	0	9895	838	29	1	963	1	MSH4	1	76282183	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	55200	76282183	172968438	51	23305										
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	76877784	76877784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaatgagatagatcgatcctCctgcatttggagaatgaaca	9	7	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76877784C>T	ENST00000328299.3	+	3	453	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	102					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GATCGATCCTCCTGCATTTGG	0.478																																																	0													124	109	114					1																	76877784		2203	4300	6503	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.305C>T	1.37:g.76877784C>T	ENSP00000329214:p.Ser102Phe		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.S102F	ENST00000328299.3	37	c.305	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146384	0.77888	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.30448	1.53	6.17	6.17	0.99709	.	0.160799	0.56097	D	0.000023	T	0.45915	0.1366	L	0.59436	1.845	0.58432	D	0.999996	D;D;D	0.64830	0.971;0.98;0.994	P;D;P	0.63033	0.903;0.91;0.861	T	0.30851	-0.9964	10	0.87932	D	0	-10.7815	19.8676	0.96824	0.0:1.0:0.0:0.0	.	37;102;102	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	F	102;102;101;36	ENSP00000329214:S102F	ENSP00000329214:S102F	S	+	2	0	ST6GALNAC3	76650372	0.895000	0.30542	0.993000	0.49108	0.638000	0.38207	2.871000	0.48459	2.941000	0.99782	0.655000	0.94253	TCC	ST6GALNAC3	-	pfam_Glyco_trans_29		0.478	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	C	NM_152996		76877784	1	no_errors	ENST00000328299	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76877784	C	T	76877784	3	4	147	1	0	0	0	0	1	0	0	0	15255	855	30	1	315	1	ST6GALNAC3	1	76877784	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	595601	76877784	172372837	52	23306										
AK5	26289	genome.wustl.edu	37	chr1	78024354	78024354	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agctattgactctattttctGaaggcaaaaatgcatgtttg	8	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:78024354G>A	ENST00000354567.2	+	14	1951	c.1688G>A	c.(1687-1689)tGa>tAa	p.*563*	AK5_ENST00000478255.1_Silent_p.*78*|AK5_ENST00000344720.5_Silent_p.*537*	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	0					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCTATTTTCTGAAGGCAAAAA	0.348																																																	0													92	81	85					1																	78024354		2203	4300	6503	SO:0001819	synonymous_variant	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1688G>A	1.37:g.78024354G>A			Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.*563	ENST00000354567.2	37	c.1688	CCDS675.1	1																																																																																			AK5	-	NULL		0.348	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	G	NM_174858		78024354	1	no_errors	ENST00000354567	ensembl	human	known	70_37	silent	SNP	1.000	A	A	78024354	G	A	78024354	2	1	147	1	0	0	0	0	0	0	0	1	443	1285	45	1		1	AK5	1	78024354	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1146570	78024354	171226267	53	23307										
IFI44L	10964	genome.wustl.edu	37	chr1	79106759	79106759	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgattgcagtgaggttcttCaagacaactttttaaacatg	8	6	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:79106759C>T	ENST00000370751.5	+	7	1281	c.1102C>T	c.(1102-1104)Caa>Taa	p.Q368*	IFI44L_ENST00000342282.3_Nonsense_Mutation_p.Q110*|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	368					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGAGGTTCTTCAAGACAACTT	0.313																																																	0													151	156	154					1																	79106759		2203	4299	6502	SO:0001587	stop_gained	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1102C>T	1.37:g.79106759C>T	ENSP00000359787:p.Gln368*		Q86TE1|Q96B64|Q99984	Nonsense_Mutation	SNP	NULL	p.Q368*	ENST00000370751.5	37	c.1102	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.498664	0.96355	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	.	.	.	4.25	0.964	0.19655	.	0.779075	0.11949	N	0.513926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8948	8.3166	0.32104	0.0:0.3092:0.5909:0.0999	.	.	.	.	X	368;110	.	ENSP00000342833:Q110X	Q	+	1	0	IFI44L	78879347	0.706000	0.27856	0.810000	0.32431	0.191000	0.23601	0.063000	0.14410	0.381000	0.24851	0.558000	0.71614	CAA	IFI44L	-	NULL		0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	HGNC	protein_coding	OTTHUMT00000026834.3	C	NM_006820		79106759	1	no_errors	ENST00000370751	ensembl	human	known	70_37	nonsense	SNP	0.797	T	T	79106759	C	T	79106759	4	4	147	1	0	0	0	0	0	1	0	0	7538	827	29	1	1124	1	IFI44L	1	79106759	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1082405	79106759	170143862	54	23308										
COL24A1	255631	genome.wustl.edu	37	chr1	86361540	86361540	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgattttttaaattacttaCtggtttcccttgaaatcctc	4	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:86361540C>A	ENST00000370571.2	-	31	3289		c.e31+1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAATTACTTACTGGTTTCCCT	0.358																																																	0													55	48	50					1																	86361540		1784	4068	5852	SO:0001630	splice_region_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2922+1G>T	1.37:g.86361540C>A			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	-	e31+1	ENST00000370571.2	37	c.2922+1	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209669	0.58343	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5368	0.91013	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86134128	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	4.710000	0.61873	2.679000	0.91253	0.655000	0.94253	.	COL24A1	-	-		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890	Intron	86361540	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	86361540	C	A	86361540	5	1	147	1	0	0	0	0	0	0	1	0	3688	579	20	4	2341	4	COL24A1	1	86361540	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7254781	86361540	162889081	55	23309										
RBMXL1	494115	genome.wustl.edu	37	chr1	89448377	89448377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccctctatcagatcggcttCctccagggccagcacctctt	7	18	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:89448377C>T	ENST00000321792.5	-	2	1560	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G378E|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	378					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										AGATCGGCTTCCTCCAGGGCC	0.493																																																	0													76	81	79					1																	89448377		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1133G>A	1.37:g.89448377C>T	ENSP00000318415:p.Gly378Glu			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G378E	ENST00000321792.5	37	c.1133	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230567	0.22542	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77098	-1.07;-1.07	1.58	1.58	0.23477	.	0.000000	0.85682	U	0.000000	T	0.65302	0.2678	L	0.46614	1.455	0.41014	D	0.985022	D	0.69078	0.997	P	0.59643	0.861	T	0.66056	-0.6018	10	0.08179	T	0.78	-7.2129	8.7355	0.34525	0.0:1.0:0.0:0.0	.	378	Q96E39	RBMXL_HUMAN	E	378	ENSP00000318415:G378E;ENSP00000446099:G378E	ENSP00000318415:G378E	G	-	2	0	RBMXL1	89220965	1.000000	0.71417	0.349000	0.25694	0.787000	0.44495	4.995000	0.63908	0.878000	0.35920	0.306000	0.20318	GGA	RBMXL1	-	NULL		0.493	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	C	NM_019610		89448377	-1	no_errors	ENST00000321792	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89448377	C	T	89448377	3	4	147	1	0	0	0	0	1	0	0	0	13183	855	30	1	43	1	RBMXL1	1	89448377	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3086837	89448377	159802244	56	23310										
FAM69A	388650	genome.wustl.edu	37	chr1	93309606	93309606	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgttctttatcttgaagtatCaccatgagaagaaattcatt	6	6	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:93309606C>T	ENST00000370310.4	-	5	691	c.621G>A	c.(619-621)gtG>gtA	p.V207V	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	207						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CTTGAAGTATCACCATGAGAA	0.428																																																	0													73	59	63					1																	93309606		692	1591	2283	SO:0001819	synonymous_variant	388650			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.621G>A	1.37:g.93309606C>T			Q6IRV2	Silent	SNP	pfam_Uncharacterised_FAM69	p.V207	ENST00000370310.4	37	c.621	CCDS44173.1	1																																																																																			FAM69A	-	pfam_Uncharacterised_FAM69		0.428	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	HGNC	protein_coding	OTTHUMT00000030046.2	C	NM_001006605		93309606	-1	no_errors	ENST00000370310	ensembl	human	known	70_37	silent	SNP	0.985	T	T	93309606	C	T	93309606	2	4	147	1	0	0	0	0	0	0	0	1	5620	813	29	1		1	FAM69A	1	93309606	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3861229	93309606	155941015	57	23311										
ABCA4	24	genome.wustl.edu	37	chr1	94508319	94508319	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgagcagcagctgttacctGagcgatacttcaggagcaga	12	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:94508319G>C	ENST00000370225.3	-	22	3412	c.3326C>G	c.(3325-3327)tCa>tGa	p.S1109*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1109	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGTTACCTGAGCGATACTT	0.562																																																	0													78	66	70					1																	94508319		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3326C>G	1.37:g.94508319G>C	ENSP00000359245:p.Ser1109*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.S1109*	ENST00000370225.3	37	c.3326	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.074773	0.99331	.	.	ENSG00000198691	ENST00000370225	.	.	.	5.76	4.85	0.62838	.	0.426186	0.26421	N	0.024471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.859	0.70366	0.0687:0.0:0.9313:0.0	.	.	.	.	X	1109	.	ENSP00000359245:S1109X	S	-	2	0	ABCA4	94280907	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.299000	0.51826	1.445000	0.47624	0.650000	0.86243	TCA	ABCA4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	G	NM_000350		94508319	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	94508319	G	C	94508319	4	2	147	1	0	0	0	0	0	1	0	0	34	1294	45	1	3611	1	ABCA4	1	94508319	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1198713	94508319	154742302	58	23312										
ABCA4	24	genome.wustl.edu	37	chr1	94568588	94568588	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacctgctctggacggacttGagagttgatcagaaggtaga	13	7	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:94568588G>A	ENST00000370225.3	-	5	639	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.Q185*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	185					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGACGGACTTGAGAGTTGATC	0.473																																																	0													199	185	190					1																	94568588		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.553C>T	1.37:g.94568588G>A	ENSP00000359245:p.Gln185*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.Q185*	ENST00000370225.3	37	c.553	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.625067	0.97714	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	5.42	5.42	0.78866	.	0.128389	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.8625	0.92278	0.0:0.0:1.0:0.0	.	.	.	.	X	185	.	ENSP00000359245:Q185X	Q	-	1	0	ABCA4	94341176	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.904000	0.75708	2.542000	0.85734	0.655000	0.94253	CAA	ABCA4	-	tigrfam_Rim_ABC_transpt		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	G	NM_000350		94568588	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	94568588	G	A	94568588	4	1	147	1	0	0	0	0	0	1	0	0	34	1299	45	1	6452	1	ABCA4	1	94568588	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	60269	94568588	154682033	59	23313										
FRRS1	391059	genome.wustl.edu	37	chr1	100181193	100181193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ataacaaaagcaatgcaggtGaggacagttgtggtgaacat	12	5	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:100181193G>A	ENST00000414213.1	-	12	1873	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	FRRS1_ENST00000287474.5_Silent_p.L424L|FRRS1_ENST00000492943.1_5'UTR			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	424	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAATGCAGGTGAGGACAGTTG	0.383																																																	0													107	103	104					1																	100181193		2203	4300	6503	SO:0001819	synonymous_variant	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1272C>T	1.37:g.100181193G>A			A6NLN7	Silent	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.L424	ENST00000414213.1	37	c.1272		1																																																																																			FRRS1	-	smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM		0.383	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		G	NM_001013660		100181193	-1	no_errors	ENST00000287474	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100181193	G	A	100181193	2	1	147	1	0	0	0	0	0	0	0	1	6078	1277	45	1		1	FRRS1	1	100181193	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5612605	100181193	149069428	60	23314										
SASS6	163786	genome.wustl.edu	37	chr1	100586960	100586960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acatttcaaacagcctgcgaGaaatttctttatctccacat	4	11	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:100586960G>A	ENST00000287482.5	-	5	597	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	153					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.L153I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGCCTGCGAGAAATTTCTTT	0.303																																																	1	Substitution - Missense(1)	large_intestine(1)											57	59	58					1																	100586960		2201	4300	6501	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.457C>T	1.37:g.100586960G>A	ENSP00000287482:p.Leu153Phe		D3DT55|Q8N3K0	Missense_Mutation	SNP	NULL	p.L153F	ENST00000287482.5	37	c.457	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626958	0.66901	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.34072	1.38	5.61	1.05	0.20165	.	0.073764	0.53938	D	0.000050	T	0.45637	0.1352	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49969	-0.8882	10	0.87932	D	0	-9.1116	8.0347	0.30486	0.4631:0.0:0.5369:0.0	.	153	Q6UVJ0	SAS6_HUMAN	F	153;126	ENSP00000287482:L153F	ENSP00000287482:L153F	L	-	1	0	SASS6	100359548	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.068000	0.30629	0.398000	0.25338	0.655000	0.94253	CTC	SASS6	-	NULL		0.303	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	G	NM_194292		100586960	-1	no_errors	ENST00000287482	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100586960	G	A	100586960	3	1	147	1	0	0	0	0	1	0	0	0	13880	942	33	1	1568	1	SASS6	1	100586960	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	405767	100586960	148663661	61	23315										
COL11A1	1301	genome.wustl.edu	37	chr1	103348829	103348829	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acagtaaactttgaaggaatCtcctgagcaaccttggttag	9	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:103348829C>T	ENST00000370096.3	-	64	5209	c.4897G>A	c.(4897-4899)Gat>Aat	p.D1633N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1594N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1517N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1645N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1633	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGAAGGAATCTCCTGAGCAA	0.358																																																	0													135	132	133					1																	103348829		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4897G>A	1.37:g.103348829C>T	ENSP00000359114:p.Asp1633Asn		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.D1645N	ENST00000370096.3	37	c.4933	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350784	0.82132	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.996	D;D;D;D;D	0.85130	0.997;0.995;0.995;0.997;0.993	D	0.94316	0.7549	10	0.87932	D	0	.	19.4353	0.94792	0.0:1.0:0.0:0.0	.	1517;1594;1645;1633;853	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	N	1633;1645;1594;853;1517	ENSP00000359114:D1633N;ENSP00000351163:D1645N;ENSP00000302551:D1594N;ENSP00000426533:D1517N	ENSP00000302551:D1594N	D	-	1	0	COL11A1	103121417	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.603000	0.88011	0.591000	0.81541	GAT	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103348829	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103348829	C	T	103348829	3	4	147	1	0	0	0	0	1	0	0	0	3672	913	32	1	539	1	COL11A1	1	103348829	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2761869	103348829	145901792	62	23316										
C1orf103	55791	genome.wustl.edu	37	chr1	111494338	111494338	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taacgtgtcttttcttactgGagtatcaggagaaacagaat	9	6	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:111494338G>C	ENST00000369763.4	-	2	1558	c.1168C>G	c.(1168-1170)Cca>Gca	p.P390A	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTCTTACTGGAGTATCAGGA	0.378																																																	0													176	181	179					1																	111494338		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1168C>G	1.37:g.111494338G>C	ENSP00000358778:p.Pro390Ala		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.P390A	ENST00000369763.4	37	c.1168	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766203	0.31228	.	.	ENSG00000121931	ENST00000369763	T	0.22336	1.96	5.7	3.58	0.41010	.	0.272302	0.32655	N	0.005818	T	0.09862	0.0242	L	0.27053	0.805	0.80722	D	1	P	0.50156	0.932	P	0.50659	0.647	T	0.03483	-1.1032	10	0.44086	T	0.13	-8.5656	3.6925	0.08351	0.175:0.0:0.6069:0.2181	.	390	Q5T3J3	LRIF1_HUMAN	A	390	ENSP00000358778:P390A	ENSP00000358778:P390A	P	-	1	0	LRIF1	111295861	0.925000	0.31364	1.000000	0.80357	0.962000	0.63368	1.377000	0.34317	2.705000	0.92388	0.591000	0.81541	CCA	LRIF1	-	NULL		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	G	NM_018372		111494338	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	0.992	C	C	111494338	G	C	111494338	3	2	147	1	0	0	0	0	1	0	0	0	1982	1174	41	1	1153	1	C1orf103	1	111494338	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8145509	111494338	137756283	63	23317										
DDX20	11218	genome.wustl.edu	37	chr1	112303170	112303170	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctttattcttgatgaagcaGataagcttttagaagaaggc	9	5	2	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:112303170G>C	ENST00000369702.4	+	4	1260	c.640G>C	c.(640-642)Gat>Cat	p.D214H	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	214	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGAAGCAGATAAGCTTTT	0.323																																																	0													94	103	100					1																	112303170		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.640G>C	1.37:g.112303170G>C	ENSP00000358716:p.Asp214His		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D214H	ENST00000369702.4	37	c.640	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454802	0.84209	.	.	ENSG00000064703	ENST00000369702	T	0.02709	4.19	5.49	5.49	0.81192	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61093	-0.7132	10	0.87932	D	0	-20.7923	18.9555	0.92657	0.0:0.0:1.0:0.0	.	214	Q9UHI6	DDX20_HUMAN	H	214	ENSP00000358716:D214H	ENSP00000358716:D214H	D	+	1	0	DDX20	112104693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.334000	0.96470	2.570000	0.86706	0.591000	0.81541	GAT	DDX20	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	G	NM_007204		112303170	1	no_errors	ENST00000369702	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112303170	G	C	112303170	3	2	147	1	0	0	0	0	1	0	0	0	4353	942	33	1	654	1	DDX20	1	112303170	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	808832	112303170	136947451	64	23318										
HIPK1	204851	genome.wustl.edu	37	chr1	114483792	114483792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtgctttcagcataagaatCacacctgccttgtttttgaa	7	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:114483792C>G	ENST00000369558.1	+	2	1019	c.787C>G	c.(787-789)Cac>Gac	p.H263D	HIPK1_ENST00000369554.2_Missense_Mutation_p.H263D|HIPK1_ENST00000369559.4_Missense_Mutation_p.H263D|HIPK1_ENST00000369555.2_Missense_Mutation_p.H263D|HIPK1_ENST00000369561.4_Missense_Mutation_p.H263D|HIPK1_ENST00000426820.2_Missense_Mutation_p.H263D			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATAAGAATCACACCTGCCT	0.393																																																	0													96	93	94					1																	114483792		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.787C>G	1.37:g.114483792C>G	ENSP00000358571:p.His263Asp		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	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.H263D	ENST00000369558.1	37	c.787	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195404	0.78902	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.70727	0.3257	L	0.42529	1.33	0.80722	D	1	D;D	0.62365	0.991;0.96	D;D	0.76071	0.987;0.948	T	0.72279	-0.4340	10	0.87932	D	0	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	263;263	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	D	334;263;263;263;263;263;263	ENSP00000407442:H334D;ENSP00000358572:H263D;ENSP00000409673:H263D;ENSP00000358567:H263D;ENSP00000358568:H263D;ENSP00000358571:H263D;ENSP00000358574:H263D	ENSP00000358567:H263D	H	+	1	0	HIPK1	114285315	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.770000	0.85390	2.752000	0.94435	0.557000	0.71058	CAC	HIPK1	-	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		0.393	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	C	NM_198268		114483792	1	no_errors	ENST00000369558	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114483792	C	G	114483792	3	3	147	1	0	0	0	0	1	0	0	0	7136	826	29	1	789	1	HIPK1	1	114483792	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2180622	114483792	134766829	65	23319										
SYT6	148281	genome.wustl.edu	37	chr1	114680230	114680230	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcatggcgggagaagcggtCaaagtcgaagacactgagat	15	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:114680230C>G	ENST00000610222.1	-	3	1104	c.958G>C	c.(958-960)Gac>Cac	p.D320H	SYT6_ENST00000393296.1_Missense_Mutation_p.D320H|SYT6_ENST00000369547.1_Missense_Mutation_p.D235H|SYT6_ENST00000607941.1_Missense_Mutation_p.D235H|SYT6_ENST00000609117.1_Missense_Mutation_p.D235H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	320	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGCGGTCAAAGTCGAAG	0.552																																																	0													93	87	89					1																	114680230		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.958G>C	1.37:g.114680230C>G	ENSP00000476396:p.Asp320His		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D320H	ENST00000610222.1	37	c.958		1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434508	0.83776	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.45	5.45	0.79879	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62096	-0.6926	10	0.87932	D	0	.	19.2901	0.94095	0.0:1.0:0.0:0.0	.	320	Q5T7P8	SYT6_HUMAN	H	235;320;235;320	ENSP00000358560:D235H;ENSP00000376974:D320H;ENSP00000358559:D235H;ENSP00000358558:D320H	ENSP00000358558:D320H	D	-	1	0	SYT6	114481753	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	7.815000	0.86186	2.567000	0.86603	0.650000	0.86243	GAC	SYT6	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom		0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	C	NM_205848		114680230	-1	no_errors	ENST00000369545	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114680230	C	G	114680230	3	3	147	1	0	0	0	0	1	0	0	0	15508	826	29	1	594	1	SYT6	1	114680230	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	196438	114680230	134570391	66	23320										
SLC22A15	55356	genome.wustl.edu	37	chr1	116574045	116574045	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcgactgagtgaggctgaaGaggcgctgtacctcattgcc	14	10	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:116574045G>C	ENST00000369503.4	+	6	917	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	263					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAGGCTGAAGAGGCGCTGTA	0.483																																																	0													91	92	91					1																	116574045		1994	4174	6168	SO:0001583	missense	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.787G>C	1.37:g.116574045G>C	ENSP00000358515:p.Glu263Gln		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E263Q	ENST00000369503.4	37	c.787	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316600	0.23908	.	.	ENSG00000163393	ENST00000369503	T	0.58797	0.31	4.81	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.325722	0.35739	N	0.003012	T	0.23210	0.0561	N	0.20357	0.565	0.80722	D	1	B	0.13145	0.007	B	0.23275	0.045	T	0.07809	-1.0753	10	0.15499	T	0.54	.	13.1473	0.59470	0.0771:0.0:0.9229:0.0	.	263	Q8IZD6	S22AF_HUMAN	Q	263	ENSP00000358515:E263Q	ENSP00000358515:E263Q	E	+	1	0	SLC22A15	116375568	1.000000	0.71417	0.014000	0.15608	0.663000	0.39108	3.208000	0.51114	1.260000	0.44134	0.655000	0.94253	GAG	SLC22A15	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.483	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	G	NM_018420		116574045	1	no_errors	ENST00000369503	ensembl	human	known	70_37	missense	SNP	0.987	C	C	116574045	G	C	116574045	3	2	147	1	0	0	0	0	1	0	0	0	14476	943	33	1	809	1	SLC22A15	1	116574045	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1893815	116574045	132676576	67	23321										
WDR3	10885	genome.wustl.edu	37	chr1	118483799	118483799	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatgcgggaaggaagagacaGagttgtaaaccttgcagtcg	14	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:118483799G>C	ENST00000349139.5	+	8	889	c.842G>C	c.(841-843)aGa>aCa	p.R281T	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	281						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GGAAGAGACAGAGTTGTAAAC	0.443																																																	0													111	106	108					1																	118483799		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.842G>C	1.37:g.118483799G>C	ENSP00000308179:p.Arg281Thr			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R281T	ENST00000349139.5	37	c.842	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.155735	0.94686	.	.	ENSG00000065183	ENST00000349139	T	0.80653	-1.4	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88780	0.3270	10	0.48119	T	0.1	-21.4081	19.8424	0.96695	0.0:0.0:1.0:0.0	.	281	Q9UNX4	WDR3_HUMAN	T	281	ENSP00000308179:R281T	ENSP00000308179:R281T	R	+	2	0	WDR3	118285322	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.606000	0.90888	2.673000	0.90976	0.655000	0.94253	AGA	WDR3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.443	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118483799	1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118483799	G	C	118483799	3	2	147	1	0	0	0	0	1	0	0	0	17316	942	33	1	868	1	WDR3	1	118483799	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1909754	118483799	130766822	68	23322										
ZNF697	90874	genome.wustl.edu	37	chr1	120168533	120168533	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcactgcttccctgtgccttGagtcctgtgggttggagccc	13	13	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:120168533G>C	ENST00000421812.2	-	2	310	c.191C>G	c.(190-192)tCa>tGa	p.S64*		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CCTGTGCCTTGAGTCCTGTGG	0.517																																																	0													107	109	108					1																	120168533		1980	4151	6131	SO:0001587	stop_gained	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.191C>G	1.37:g.120168533G>C	ENSP00000396857:p.Ser64*		Q96IT2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S64*	ENST00000421812.2	37	c.191	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148056	0.57151	.	.	ENSG00000143067	ENST00000421812	.	.	.	4.17	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.2534	0.20859	0.3002:0.0:0.6998:0.0	.	.	.	.	X	64	.	ENSP00000396857:S64X	S	-	2	0	ZNF697	119970056	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.301000	0.19174	0.316000	0.23135	0.561000	0.74099	TCA	ZNF697	-	NULL		0.517	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	G	XM_371286		120168533	-1	no_errors	ENST00000421812	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	120168533	G	C	120168533	4	2	147	1	0	0	0	0	0	1	0	0	18130	1294	45	1	1454	1	ZNF697	1	120168533	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1684734	120168533	129082088	69	23323										
PIAS3	10401	genome.wustl.edu	37	chr1	145579296	145579296	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gattattttccccccaacctCtttgtcaaggtcaatgggaa	7	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:145579296C>G	ENST00000393045.2	+	5	723	c.633C>G	c.(631-633)ctC>ctG	p.L211L	PIAS3_ENST00000369299.3_Silent_p.L202L|PIAS3_ENST00000369298.1_Silent_p.L176L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	211	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCCAACCTCTTTGTCAAGG	0.453																																																	0													119	115	117					1																	145579296		2203	4300	6503	SO:0001819	synonymous_variant	10401			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.633C>G	1.37:g.145579296C>G			Q9UFI3	Silent	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.L211	ENST00000393045.2	37	c.633	CCDS920.2	1																																																																																			PIAS3	-	NULL		0.453	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	C	NM_006099		145579296	1	no_errors	ENST00000393045	ensembl	human	known	70_37	silent	SNP	1.000	G	G	145579296	C	G	145579296	2	3	147	1	0	0	0	0	0	0	0	1	11901	900	32	1		1	PIAS3	1	145579296	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	25410763	145579296	103671325	70	23324										
PIAS3	10401	genome.wustl.edu	37	chr1	145584227	145584227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaagctcatcagatgaggagGatctgccccctaccaagaag	10	11	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:145584227G>A	ENST00000393045.2	+	11	1468	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	PIAS3_ENST00000369298.1_Missense_Mutation_p.D425N	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	460	SUMO1-binding. {ECO:0000250}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.D451N(1)|p.D460N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATGAGGAGGATCTGCCCCC	0.507																																																	2	Substitution - Missense(2)	cervix(2)											124	128	127					1																	145584227		2203	4300	6503	SO:0001583	missense	10401			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1378G>A	1.37:g.145584227G>A	ENSP00000376765:p.Asp460Asn		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.D460N	ENST00000393045.2	37	c.1378	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140366	0.77775	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.35605	1.31;1.3	5.64	5.64	0.86602	.	0.168163	0.40469	N	0.001088	T	0.45657	0.1353	L	0.43923	1.385	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.23833	-1.0177	10	0.54805	T	0.06	-16.8922	17.243	0.87019	0.0:0.0:1.0:0.0	.	460	Q9Y6X2	PIAS3_HUMAN	N	460;425	ENSP00000376765:D460N;ENSP00000358304:D425N	ENSP00000358304:D425N	D	+	1	0	PIAS3	144295584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.345000	0.79337	2.937000	0.99478	0.650000	0.86243	GAT	PIAS3	-	NULL		0.507	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	G	NM_006099		145584227	1	no_errors	ENST00000393045	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145584227	G	A	145584227	3	1	147	1	0	0	0	0	1	0	0	0	11901	1174	41	1	1420	1	PIAS3	1	145584227	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4931	145584227	103666394	71	23325										
POLR3C	10623	genome.wustl.edu	37	chr1	145606277	145606277	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcaagaagccccattacctCcttgttatctgtagtatatt	5	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:145606277C>G	ENST00000334163.3	-	5	836	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.E226Q	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	226				KRPKYTTDNKEPIPDDGIYWQA -> RDQNILQITRXPFQM MGFIGRP (in Ref. 1; AAB63675). {ECO:0000305}.	defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCCATTACCTCCTTGTTATCT	0.468																																																	0													150	128	135					1																	145606277		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.676G>C	1.37:g.145606277C>G	ENSP00000334564:p.Glu226Gln		O15317|Q9Y3R6	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.E226Q	ENST00000334163.3	37	c.676	CCDS921.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009142	0.75046	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	RNA polymerase III Rpc82, C -terminal (1);	0.315067	0.31071	N	0.008315	T	0.41026	0.1141	L	0.48642	1.525	0.42362	D	0.992418	D;B;B	0.65815	0.995;0.053;0.046	P;B;B	0.58820	0.846;0.03;0.014	T	0.06643	-1.0815	10	0.18710	T	0.47	-14.6399	15.6971	0.77509	0.0:1.0:0.0:0.0	.	226;226;226	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Q	226	ENSP00000334564:E226Q;ENSP00000358300:E226Q	ENSP00000334564:E226Q	E	-	1	0	POLR3C	144317634	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.254000	0.58798	2.776000	0.95493	0.585000	0.79938	GAG	POLR3C	-	pfam_RNA_pol_III_Rpc82_C		0.468	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	HGNC	protein_coding	OTTHUMT00000038542.1	C	NM_006468		145606277	-1	no_errors	ENST00000334163	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145606277	C	G	145606277	3	3	147	1	0	0	0	0	1	0	0	0	12254	864	30	1	972	1	POLR3C	1	145606277	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	22050	145606277	103644344	72	23326										
MTMR11	10903	genome.wustl.edu	37	chr1	149903282	149903282	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgaaagcagctggacgagtGaagagaggaggccattgaga	16	6	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:149903282G>A	ENST00000439741.2	-	13	1410	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000406732.3_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.S315L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	387	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGGACGAGTGAAGAGAGGAG	0.537																																																	0													68	64	65					1																	149903282		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1160C>T	1.37:g.149903282G>A	ENSP00000391668:p.Ser387Leu		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.S387L	ENST00000439741.2	37	c.1160	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556088	0.86231	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.96136	-3.92;-3.92	6.17	6.17	0.99709	Myotubularin phosphatase domain (1);	0.136711	0.51477	D	0.000093	D	0.97977	0.9334	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98070	1.0398	10	0.87932	D	0	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	315;387	A4FU01-4;A4FU01	.;MTMRB_HUMAN	L	315;387	ENSP00000358136:S315L;ENSP00000391668:S387L	ENSP00000358136:S315L	S	-	2	0	MTMR11	148169906	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.953000	0.63624	2.941000	0.99782	0.655000	0.94253	TCA	MTMR11	-	NULL		0.537	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149903282	-1	no_errors	ENST00000439741	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149903282	G	A	149903282	3	1	147	1	0	0	0	0	1	0	0	0	9963	1294	45	1	1028	1	MTMR11	1	149903282	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4297005	149903282	99347339	73	23327										
OTUD7B	56957	genome.wustl.edu	37	chr1	149921607	149921607	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgatcataggcgagcaccaGaggggagcggtgacactggc	16	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:149921607G>A	ENST00000369135.4	-	9	1342	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	350	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L350V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCGAGCACCAGAGGGGAGCGG	0.512																																																	1	Substitution - Missense(1)	lung(1)											71	73	72					1																	149921607		1980	4171	6151	SO:0001819	synonymous_variant	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1048C>T	1.37:g.149921607G>A			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.L350	ENST00000369135.4	37	c.1048	CCDS41389.1	1																																																																																			OTUD7B	-	pfam_OTU,pfscan_OTU		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	G	NM_020205		149921607	-1	no_errors	ENST00000369135	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149921607	G	A	149921607	2	1	147	1	0	0	0	0	0	0	0	1	11343	933	33	1		1	OTUD7B	1	149921607	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	18325	149921607	99329014	74	23328										
VPS45	11311	genome.wustl.edu	37	chr1	150048382	150048382	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgaacaggaagttgtggctGaggttcaggtaaacatattg	13	4	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150048382G>C	ENST00000369130.3	+	4	907	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	VPS45_ENST00000535106.1_Missense_Mutation_p.E121Q|VPS45_ENST00000369128.5_Missense_Mutation_p.E85Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	121					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.E121Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTGTGGCTGAGGTTCAGGT	0.388																																																	1	Substitution - Missense(1)	lung(1)											181	159	166					1																	150048382		2203	4300	6503	SO:0001583	missense	11311			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.361G>C	1.37:g.150048382G>C	ENSP00000358126:p.Glu121Gln		D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.E121Q	ENST00000369130.3	37	c.361	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567156	0.65651	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000535106;ENST00000419023	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	L	0.49640	1.575	0.28302	N	0.923074	D;D;B;B	0.89917	0.998;1.0;0.236;0.236	D;D;B;B	0.85130	0.994;0.997;0.173;0.173	T	0.73372	-0.4003	10	0.45353	T	0.12	-25.6742	18.1223	0.89576	0.0:0.0:1.0:0.0	.	85;85;121;121	F5H8K1;B7Z7G7;Q53FR8;Q9NRW7	.;.;.;VPS45_HUMAN	Q	121;85;121;121	ENSP00000358126:E121Q;ENSP00000358124:E85Q;ENSP00000440690:E121Q;ENSP00000400143:E121Q	ENSP00000358124:E85Q	E	+	1	0	VPS45	148315006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.518000	0.84900	0.655000	0.94253	GAG	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like		0.388	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	G	NM_007259		150048382	1	no_errors	ENST00000369130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150048382	G	C	150048382	3	2	147	1	0	0	0	0	1	0	0	0	17242	1291	45	1	375	1	VPS45	1	150048382	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	126775	150048382	99202239	75	23329										
RPRD2	23248	genome.wustl.edu	37	chr1	150390097	150390097	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatccccaccgtttgaatctCttttaccttgccaatgatgt	5	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150390097C>G	ENST00000369068.4	+	2	235	c.231C>G	c.(229-231)ctC>ctG	p.L77L	RPRD2_ENST00000401000.4_Silent_p.L77L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Silent_p.L77L|RPRD2_ENST00000539519.1_Silent_p.L77L	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	77	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTTTGAATCTCTTTTACCTTG	0.363																																																	0													227	213	217					1																	150390097		1861	4102	5963	SO:0001819	synonymous_variant	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.231C>G	1.37:g.150390097C>G			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.L77	ENST00000369068.4	37	c.231	CCDS44216.1	1																																																																																			RPRD2	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD		0.363	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150390097	1	no_errors	ENST00000369068	ensembl	human	known	70_37	silent	SNP	1.000	G	G	150390097	C	G	150390097	2	3	147	1	0	0	0	0	0	0	0	1	13647	900	32	1		1	RPRD2	1	150390097	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	341715	150390097	98860524	76	23330										
RPRD2	23248	genome.wustl.edu	37	chr1	150444968	150444968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggagagtgtcggcagctttCgttccaacagtttcaactca	10	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150444968C>T	ENST00000369068.4	+	11	3548	c.3544C>T	c.(3544-3546)Cgt>Tgt	p.R1182C	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1156C|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1182						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGGCAGCTTTCGTTCCAACAG	0.557																																																	0													103	102	102					1																	150444968		2039	4182	6221	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3544C>T	1.37:g.150444968C>T	ENSP00000358064:p.Arg1182Cys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.R1182C	ENST00000369068.4	37	c.3544	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208746	0.39003	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61742	0.08;0.09	4.59	4.59	0.56863	.	0.078589	0.49916	D	0.000126	T	0.52901	0.1763	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	T	0.60984	-0.7154	10	0.87932	D	0	-6.5672	11.6607	0.51345	0.2855:0.7145:0.0:0.0	.	1182;1156	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	C	1156;1182	ENSP00000383785:R1156C;ENSP00000358064:R1182C	ENSP00000358064:R1182C	R	+	1	0	RPRD2	148711592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.131000	0.31406	2.363000	0.80096	0.563000	0.77884	CGT	RPRD2	-	NULL		0.557	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150444968	1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150444968	C	T	150444968	3	4	147	1	0	0	0	0	1	0	0	0	13647	884	31	1	3586	1	RPRD2	1	150444968	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	54871	150444968	98805653	77	23331										
RPRD2	23248	genome.wustl.edu	37	chr1	150445007	150445007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caacatttgagcatcatcttCccccatcccccttggaacat	4	16	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150445007C>T	ENST00000369068.4	+	11	3587	c.3583C>T	c.(3583-3585)Ccc>Tcc	p.P1195S	RPRD2_ENST00000401000.4_Missense_Mutation_p.P1169S|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1195	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATCATCTTCCCCCATCCCC	0.517																																																	0													114	113	114					1																	150445007		2028	4161	6189	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3583C>T	1.37:g.150445007C>T	ENSP00000358064:p.Pro1195Ser		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.P1195S	ENST00000369068.4	37	c.3583	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908629	0.52439	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.65549	-0.16;-0.14	4.59	4.59	0.56863	.	0.082491	0.49916	D	0.000139	T	0.60996	0.2312	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.68784	-0.5317	10	0.66056	D	0.02	-10.0053	17.1925	0.86883	0.0:1.0:0.0:0.0	.	1195;1169	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	S	1169;1195	ENSP00000383785:P1169S;ENSP00000358064:P1195S	ENSP00000358064:P1195S	P	+	1	0	RPRD2	148711631	0.883000	0.30277	1.000000	0.80357	0.942000	0.58702	1.482000	0.35486	2.363000	0.80096	0.563000	0.77884	CCC	RPRD2	-	NULL		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150445007	1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150445007	C	T	150445007	3	4	147	1	0	0	0	0	1	0	0	0	13647	855	30	1	3625	1	RPRD2	1	150445007	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	39	150445007	98805614	78	23332										
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150525585	150525585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acatccagaagccctcctccCccggggccagggtcccagac	10	19	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150525585C>T	ENST00000369038.2	+	3	491	c.290C>T	c.(289-291)cCc>cTc	p.P97L	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P97L|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P97L|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P97L|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	97					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCCTCCTCCCCCGGGGCCAG	0.672																																																	0													25	30	28					1																	150525585		2198	4291	6489	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.290C>T	1.37:g.150525585C>T	ENSP00000358034:p.Pro97Leu		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.P97L	ENST00000369038.2	37	c.290	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	4.155	0.027139	0.08054	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61980	0.15;0.06;0.36;0.06	4.18	3.27	0.37495	.	.	.	.	.	T	0.31702	0.0805	L	0.44542	1.39	0.09310	N	0.999997	B;B;B;B	0.24823	0.038;0.053;0.077;0.112	B;B;B;B	0.24269	0.01;0.052;0.034;0.022	T	0.20974	-1.0259	9	0.37606	T	0.19	.	8.1879	0.31350	0.0:0.8859:0.0:0.1141	.	97;97;97;97	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	L	97	ENSP00000358037:P97L;ENSP00000271643:P97L;ENSP00000358035:P97L;ENSP00000358034:P97L	ENSP00000271643:P97L	P	+	2	0	ADAMTSL4	148792209	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.879000	0.28146	0.761000	0.33130	-0.224000	0.12420	CCC	ADAMTSL4	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.672	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	C	NM_019032		150525585	1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.001	T	T	150525585	C	T	150525585	3	4	147	1	0	0	0	0	1	0	0	0	277	623	22	4	300	4	ADAMTSL4	1	150525585	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	80578	150525585	98725036	79	23333										
HORMAD1	84072	genome.wustl.edu	37	chr1	150671161	150671161	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctttggttcactaaactttCtcctttttggcactgactct	5	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150671161C>G	ENST00000361824.2	-	15	1259	c.1154G>C	c.(1153-1155)aGa>aCa	p.R385T	GOLPH3L_ENST00000479757.1_5'Flank|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R385T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R378T|GOLPH3L_ENST00000271732.3_5'Flank|GOLPH3L_ENST00000540514.1_5'Flank|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R305T	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	385					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTAAACTTTCTCCTTTTTGG	0.338																																																	0													77	80	79					1																	150671161		2203	4297	6500	SO:0001583	missense	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1154G>C	1.37:g.150671161C>G	ENSP00000355167:p.Arg385Thr		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.R385T	ENST00000361824.2	37	c.1154	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058113	0.76074	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.59906	0.23;1.23;0.86;1.23	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.55162	0.1903	L	0.34521	1.04	0.53688	D	0.999972	D;D;D	0.63046	0.992;0.992;0.969	P;P;P	0.59357	0.856;0.856;0.691	T	0.60772	-0.7197	10	0.59425	D	0.04	-18.062	16.5685	0.84605	0.0:1.0:0.0:0.0	.	305;378;385	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	T	305;385;314;305;378;385	ENSP00000357991:R305T;ENSP00000357989:R385T;ENSP00000326489:R378T;ENSP00000355167:R385T	ENSP00000326489:R378T	R	-	2	0	HORMAD1	148937785	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.305000	0.51873	2.228000	0.72767	0.455000	0.32223	AGA	HORMAD1	-	NULL		0.338	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	C	NM_032132		150671161	-1	no_errors	ENST00000361824	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150671161	C	G	150671161	3	3	147	1	0	0	0	0	1	0	0	0	7306	913	32	1	34	1	HORMAD1	1	150671161	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	145576	150671161	98579460	80	23334										
MLLT11	10962	genome.wustl.edu	37	chr1	151039932	151039932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttcaacttctggagagctCccattgccagcatccactcc	6	17	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:151039932C>T	ENST00000368921.3	+	2	3034	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	78					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of apoptotic process (GO:0043065)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of transcription, DNA-templated (GO:0045893)	intracellular (GO:0005622)				upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGAGAGCTCCCATTGCCAG	0.532																																																	0													138	133	135					1																	151039932		2203	4300	6503	SO:0001583	missense	10962			BC006471	CCDS982.1	1q21	2008-02-05			ENSG00000213190	ENSG00000213190			16997	protein-coding gene	gene with protein product	"ALL1 fused gene from chromosome 1q"	604684				7833468	Standard	NM_006818		Approved	AF1Q	uc001ewq.3	Q13015	OTTHUMG00000035160	ENST00000368921.3:c.232C>T	1.37:g.151039932C>T	ENSP00000357917:p.Pro78Ser			Missense_Mutation	SNP	NULL	p.P78S	ENST00000368921.3	37	c.232	CCDS982.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.458325	0.96240	.	.	ENSG00000213190	ENST00000368921	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	U	0.000016	T	0.81735	0.4885	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82232	-0.0559	8	0.87932	D	0	-8.0706	19.4432	0.94831	0.0:1.0:0.0:0.0	.	78	Q13015	AF1Q_HUMAN	S	78	.	ENSP00000357917:P78S	P	+	1	0	MLLT11	149306556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.454000	0.73493	2.941000	0.99782	0.655000	0.94253	CCC	MLLT11	-	NULL		0.532	MLLT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT11	HGNC	protein_coding	OTTHUMT00000085103.1	C	NM_006818		151039932	1	no_errors	ENST00000368921	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151039932	C	T	151039932	3	4	147	1	0	0	0	0	1	0	0	0	9650	855	30	1	234	1	MLLT11	1	151039932	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	368771	151039932	98210689	81	23335										
TCHH	7062	genome.wustl.edu	37	chr1	152084508	152084508	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcagctgctgctcgcgcctCagctgctgctcgcgcctcag	11	18	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:152084508C>G	ENST00000368804.1	-	2	1184	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	395	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctcagctgctgct	0.721																																																	0													1	1	1					1																	152084508		144	538	682	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1185G>C	1.37:g.152084508C>G			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L395	ENST00000368804.1	37	c.1185	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152084508	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent	SNP	0.011	G	G	152084508	C	G	152084508	2	3	147	1	0	0	0	0	0	0	0	1	15730	813	29	1		1	TCHH	1	152084508	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1044576	152084508	97166113	82	23336										
CRNN	49860	genome.wustl.edu	37	chr1	152382132	152382132	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgatgcctcgcttctcttCtgactgggctgcatcctggc	11	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:152382132C>T	ENST00000271835.3	-	3	1488	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	476					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTTCTCTTCTGACTGGGCT	0.537																																																	0													170	132	145					1																	152382132		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1426G>A	1.37:g.152382132C>T	ENSP00000271835:p.Glu476Lys		B2RE60|Q8N613	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E476K	ENST00000271835.3	37	c.1426	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320408	0.60634	.	.	ENSG00000143536	ENST00000271835	T	0.05717	3.4	4.92	4.92	0.64577	.	0.347798	0.24759	N	0.035834	T	0.05181	0.0138	L	0.57536	1.79	0.09310	N	1	P	0.52463	0.953	P	0.45829	0.494	T	0.12863	-1.0531	10	0.49607	T	0.09	.	13.4863	0.61369	0.0:1.0:0.0:0.0	.	476	Q9UBG3	CRNN_HUMAN	K	476	ENSP00000271835:E476K	ENSP00000271835:E476K	E	-	1	0	CRNN	150648756	0.000000	0.05858	0.021000	0.16686	0.073000	0.16967	0.613000	0.24299	2.536000	0.85505	0.650000	0.86243	GAA	CRNN	-	NULL		0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	C	NM_016190		152382132	-1	no_errors	ENST00000271835	ensembl	human	known	70_37	missense	SNP	0.022	T	T	152382132	C	T	152382132	3	4	147	1	0	0	0	0	1	0	0	0	3897	922	32	1	65	1	CRNN	1	152382132	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	297624	152382132	96868489	83	23337										
LCE3C	353144	genome.wustl.edu	37	chr1	152573352	152573352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggctgtggccccagttctGaaagtggctgctgcctgagc	16	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:152573352G>A	ENST00000333881.3	+	1	215	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	49					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCCCAGTTCTGAAAGTGGCTG	0.617																																																	0													61	56	58					1																	152573352		1817	2724	4541	SO:0001583	missense	353144			BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"Late cornified envelopes"	16612	protein-coding gene	gene with protein product		612615	"small proline rich-like (epidermal differentiation complex) 3A"	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.145G>A	1.37:g.152573352G>A	ENSP00000334644:p.Glu49Lys		A1L420	Missense_Mutation	SNP	NULL	p.E49K	ENST00000333881.3	37	c.145	CCDS1015.1	1	.	.	.	.	.	.	.	.	.	.	G	7.802	0.713868	0.15306	.	.	ENSG00000244057	ENST00000333881	T	0.03920	3.76	3.86	3.86	0.44501	.	.	.	.	.	T	0.02767	0.0083	.	.	.	0.27909	N	0.938693	P	0.48162	0.906	B	0.43386	0.418	T	0.34700	-0.9818	8	0.87932	D	0	.	11.1394	0.48394	0.0:0.0:1.0:0.0	.	49	Q5T5A8	LCE3C_HUMAN	K	49	ENSP00000334644:E49K	ENSP00000334644:E49K	E	+	1	0	LCE3C	150839976	0.046000	0.20272	0.856000	0.33681	0.107000	0.19398	1.717000	0.37991	1.985000	0.57927	0.313000	0.20887	GAA	LCE3C	-	NULL		0.617	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3C	HGNC	protein_coding	OTTHUMT00000040061.2	G	NM_178434		152573352	1	no_errors	ENST00000333881	ensembl	human	known	70_37	missense	SNP	0.927	A	A	152573352	G	A	152573352	3	1	147	1	0	0	0	0	1	0	0	0	8691	1291	45	1	147	1	LCE3C	1	152573352	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	191220	152573352	96677269	84	23338										
S100A16	140576	genome.wustl.edu	37	chr1	153580076	153580076	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggccggtgatgccgcctatCaaggtccagtactcatcgaa	12	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153580076C>G	ENST00000368704.1	-	3	431	c.246G>C	c.(244-246)ttG>ttC	p.L82F	S100A16_ENST00000368705.2_Missense_Mutation_p.L82F|S100A16_ENST00000368703.2_Missense_Mutation_p.L82F|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Missense_Mutation_p.L82F			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCGCCTATCAAGGTCCAGT	0.592																																					Melanoma(71;1388 1729 37039 46098)												0													106	95	99					1																	153580076		2203	4300	6503	SO:0001583	missense	140576			BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"S100 calcium binding proteins", "EF-hand domain containing"	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.246G>C	1.37:g.153580076C>G	ENSP00000357693:p.Leu82Phe		A8K439|D3DV52|Q5RHS6	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L82F	ENST00000368704.1	37	c.246	CCDS1045.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582270	0.65992	.	.	ENSG00000188643	ENST00000368704;ENST00000368705;ENST00000368706;ENST00000368703	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	4.38	3.46	0.39613	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.324485	0.22518	N	0.059014	T	0.04543	0.0124	L	0.57130	1.785	0.35136	D	0.768421	P	0.49559	0.925	B	0.42593	0.392	T	0.40905	-0.9538	10	0.33141	T	0.24	-17.045	10.7668	0.46299	0.0:0.9042:0.0:0.0958	.	82	Q96FQ6	S10AG_HUMAN	F	82	ENSP00000357693:L82F;ENSP00000357694:L82F;ENSP00000357695:L82F;ENSP00000357692:L82F	ENSP00000357692:L82F	L	-	3	2	S100A16	151846700	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.719000	0.47244	1.203000	0.43233	0.456000	0.33151	TTG	S100A16	-	pfscan_EF_HAND_2		0.592	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A16	HGNC	protein_coding	OTTHUMT00000037713.1	C	NM_080388		153580076	-1	no_errors	ENST00000368703	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153580076	C	G	153580076	3	3	147	1	0	0	0	0	1	0	0	0	13807	825	29	1	69	1	S100A16	1	153580076	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1006724	153580076	95670545	85	23339										
INTS3	65123	genome.wustl.edu	37	chr1	153736609	153736609	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccaggaagactttgactcgGagcagctgtctgtccttgct	11	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153736609G>C	ENST00000318967.2	+	18	2405	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	INTS3_ENST00000435409.2_Missense_Mutation_p.E613Q|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.E407Q|INTS3_ENST00000456435.1_Missense_Mutation_p.E407Q	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	614					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTGACTCGGAGCAGCTGTC	0.562																																																	0													136	127	130					1																	153736609		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1837G>C	1.37:g.153736609G>C	ENSP00000318641:p.Glu613Gln		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.E613Q	ENST00000318967.2	37	c.1837	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866958	0.72065	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.43152	1.355	0.53688	D	0.999972	D;D;D	0.67145	0.996;0.981;0.989	D;D;D	0.78314	0.991;0.932;0.969	T	0.58132	-0.7690	9	0.39692	T	0.17	.	13.3443	0.60564	0.0:0.0:1.0:0.0	.	407;614;613	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	Q	613;407;613;407	.	ENSP00000318641:E613Q	E	+	1	0	INTS3	152003233	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.369000	0.79578	2.526000	0.85167	0.462000	0.41574	GAG	INTS3	-	NULL		0.562	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	G	NM_023015		153736609	1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153736609	G	C	153736609	3	2	147	1	0	0	0	0	1	0	0	0	7799	1175	41	1	1907	1	INTS3	1	153736609	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	156533	153736609	95514012	86	23340										
SLC39A1	27173	genome.wustl.edu	37	chr1	153935074	153935074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggctgcagaggagggtgaGcaccagcagcagcaccaggg	17	11	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153935074G>A	ENST00000368623.3	-	1	877	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	SLC39A1_ENST00000368621.1_Missense_Mutation_p.L40F|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L40F|SLC39A1_ENST00000537590.1_5'UTR|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L40F|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	40					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		AGGAGGGTGAGCACCAGCAGC	0.647																																																	0													39	46	44					1																	153935074		2203	4300	6503	SO:0001583	missense	27173			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"Solute carriers"	12876	protein-coding gene	gene with protein product		604740	"zinc/iron regulated transporter-like"	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.118C>T	1.37:g.153935074G>A	ENSP00000357612:p.Leu40Phe		B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	pfam_ZIP	p.L40F	ENST00000368623.3	37	c.118	CCDS1055.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585091	0.86748	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.98	4.98	0.66077	.	0.090050	0.45867	D	0.000326	T	0.49729	0.1574	L	0.41573	1.285	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.40478	-0.9561	10	0.08837	T	0.75	-15.273	15.7832	0.78281	0.0:0.0:1.0:0.0	.	40	Q9NY26	S39A1_HUMAN	F	40;40;40;40;29;40;40;40	ENSP00000348535:L40F;ENSP00000357612:L40F;ENSP00000357610:L40F;ENSP00000309710:L40F;ENSP00000392950:L40F;ENSP00000392229:L40F;ENSP00000407717:L40F	ENSP00000309710:L40F	L	-	1	0	SLC39A1	152201698	0.918000	0.31147	1.000000	0.80357	0.972000	0.66771	1.287000	0.33284	2.588000	0.87417	0.561000	0.74099	CTC	SLC39A1	-	pfam_ZIP		0.647	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A1	HGNC	protein_coding	OTTHUMT00000090284.1	G	NM_014437		153935074	-1	no_errors	ENST00000310483	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153935074	G	A	153935074	3	1	147	1	0	0	0	0	1	0	0	0	14642	971	34	4	868	4	SLC39A1	1	153935074	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	198465	153935074	95315547	87	23341										
CREB3L4	148327	genome.wustl.edu	37	chr1	153946137	153946137	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcatcatcctgcccagcttCagtccattccagagtcgacc	6	17	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153946137C>T	ENST00000368607.3	+	9	1205	c.939C>T	c.(937-939)ttC>ttT	p.F313F	CREB3L4_ENST00000368600.3_Silent_p.F293F|CREB3L4_ENST00000271889.4_Silent_p.F313F|CREB3L4_ENST00000405694.3_Silent_p.F166F|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000368603.1_Silent_p.F313F|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	313					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCCAGCTTCAGTCCATTCC	0.577																																																	0													30	32	31					1																	153946137		2203	4298	6501	SO:0001819	synonymous_variant	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.939C>T	1.37:g.153946137C>T			D3DV62|Q5T4L0|Q86YW6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.F313	ENST00000368607.3	37	c.939	CCDS1056.1	1																																																																																			CREB3L4	-	NULL		0.577	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	C	NM_130898		153946137	1	no_errors	ENST00000271889	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153946137	C	T	153946137	2	4	147	1	0	0	0	0	0	0	0	1	3864	825	29	1		1	CREB3L4	1	153946137	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	11063	153946137	95304484	88	23342										
PMVK	10654	genome.wustl.edu	37	chr1	154904829	154904829	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccacaaagcaccacctaccTgagcatactgttccttgagt	7	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154904829T>A	ENST00000368467.3	-	2	463	c.158A>T	c.(157-159)cAg>cTg	p.Q53L		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	53					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCACCTACCTGAGCATACTG	0.577																																																	0													105	91	96					1																	154904829		2203	4300	6503	SO:0001630	splice_region_variant	10654			L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.159+1A>T	1.37:g.154904829T>A			Q5TZW9	Missense_Mutation	SNP	pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim	p.Q53L	ENST00000368467.3	37	c.158	CCDS1073.1	1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330230	0.41297	.	.	ENSG00000163344	ENST00000368467	T	0.43294	0.95	4.59	2.26	0.28386	.	0.289374	0.33515	N	0.004828	T	0.07188	0.0182	N	0.04636	-0.2	0.34830	D	0.739635	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.40728	T	0.16	-17.2808	5.8208	0.18526	0.0:0.2206:0.0:0.7794	.	53	Q15126	PMVK_HUMAN	L	53	ENSP00000357452:Q53L	ENSP00000357452:Q53L	Q	-	2	0	PMVK	153171453	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.324000	0.52022	0.370000	0.24538	0.459000	0.35465	CAG	PMVK	-	pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim		0.577	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMVK	HGNC	protein_coding	OTTHUMT00000091088.1	T	NM_006556	Missense_Mutation	154904829	-1	no_errors	ENST00000368467	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154904829	T	A	154904829	5	1	147	1	0	0	0	0	0	0	1	0	12168	1594	55	5	436	5	PMVK	1	154904829	Splice_Site	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	958692	154904829	94345792	89	23343										
FLAD1	80308	genome.wustl.edu	37	chr1	154960571	154960571	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatggcctcatcttccccttCaacccccagggacacactca	6	18	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154960571C>G	ENST00000292180.3	+	2	694				FLAD1_ENST00000368431.3_Missense_Mutation_p.F22L|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.F22L	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1						FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTTCCCCTTCAACCCCCAGG	0.552																																																	0													160	145	150					1																	154960571		2203	4300	6503	SO:0001627	intron_variant	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.373-10C>G	1.37:g.154960571C>G			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd	p.F22L	ENST00000292180.3	37	c.66	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418591	0.25552	.	.	ENSG00000160688	ENST00000368431;ENST00000405236	.	.	.	5.39	4.48	0.54585	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26258	-1.0108	7	0.62326	D	0.03	.	11.3442	0.49550	0.0:0.8496:0.0:0.1504	.	22	Q8NFF5-4	.	L	22	.	ENSP00000357416:F22L	F	+	3	2	FLAD1	153227195	.	.	0.003000	0.11579	0.095000	0.18619	.	.	1.297000	0.44761	0.650000	0.86243	TTC	FLAD1	-	smart_Mopterin-bd		0.552	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	C	NM_025207		154960571	1	no_errors	ENST00000405236	ensembl	human	known	70_37	missense	SNP	0.004	G	G	154960571	C	G	154960571	1	3	147	0	1	0	0	0	0	0	0	0	5938	825	29	1		1	FLAD1	1	154960571	Intron	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	55742	154960571	94290050	90	23344										
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987929	154987929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggaactgcctcccctcctGagggtccccagagctacgaa	10	16	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154987929G>A	ENST00000368426.3	+	3	930	c.793G>A	c.(793-795)Gag>Aag	p.E265K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E265K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E265K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E299K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	265					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCCTCCTGAGGGTCCCCA	0.667																																																	0													28	28	28					1																	154987929		2202	4300	6502	SO:0001583	missense	51043			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.793G>A	1.37:g.154987929G>A	ENSP00000357411:p.Glu265Lys		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E299K	ENST00000368426.3	37	c.895	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.012021	0.35511	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.08546	3.11;3.11;3.08;3.11	4.3	4.3	0.51218	.	0.437583	0.21154	N	0.079275	T	0.01905	0.0060	N	0.24115	0.695	0.31931	N	0.612223	B;B;B	0.34015	0.435;0.435;0.435	B;B;B	0.30105	0.111;0.111;0.111	T	0.37361	-0.9709	10	0.09338	T	0.73	.	14.2965	0.66316	0.0:0.0:1.0:0.0	.	265;265;299	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	265;265;299;265	ENSP00000438647:E265K;ENSP00000357411:E265K;ENSP00000406286:E299K;ENSP00000292176:E265K	ENSP00000292176:E265K	E	+	1	0	ZBTB7B	153254553	0.988000	0.35896	0.924000	0.36721	0.498000	0.33706	2.146000	0.42216	2.229000	0.72834	0.462000	0.41574	GAG	ZBTB7B	-	NULL		0.667	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	G	NM_015872		154987929	1	no_errors	ENST00000417934	ensembl	human	known	70_37	missense	SNP	0.968	A	A	154987929	G	A	154987929	3	1	147	1	0	0	0	0	1	0	0	0	17584	1291	45	1	795	1	ZBTB7B	1	154987929	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	27358	154987929	94262692	91	23345										
C1orf85	112770	genome.wustl.edu	37	chr1	156263336	156263336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcgccactgtgcaaagcctGatgggagggagccccacagt	14	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:156263336G>A	ENST00000362007.1	-	5	856	c.830C>T	c.(829-831)tCa>tTa	p.S277L	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	277					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGCAAAGCCTGATGGGAGGGA	0.597																																																	0													39	43	42					1																	156263336		2203	4300	6503	SO:0001583	missense	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.830C>T	1.37:g.156263336G>A	ENSP00000354553:p.Ser277Leu		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	NULL	p.S277L	ENST00000362007.1	37	c.830	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	G	6.911	0.537692	0.13188	.	.	ENSG00000198715	ENST00000362007	T	0.23552	1.9	5.27	0.114	0.14639	.	0.996198	0.08139	N	0.991878	T	0.08802	0.0218	M	0.62723	1.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.38908	-0.9639	10	0.54805	T	0.06	-1.1319	1.1379	0.01758	0.2612:0.1518:0.4306:0.1564	.	196;277	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	L	277	ENSP00000354553:S277L	ENSP00000354553:S277L	S	-	2	0	C1orf85	154529960	0.000000	0.05858	0.023000	0.16930	0.230000	0.25150	0.222000	0.17699	0.392000	0.25172	-0.355000	0.07637	TCA	C1orf85	-	NULL		0.597	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	G	NM_144580		156263336	-1	no_errors	ENST00000362007	ensembl	human	known	70_37	missense	SNP	0.000	A	A	156263336	G	A	156263336	3	1	147	1	0	0	0	0	1	0	0	0	2067	1294	45	1	398	1	C1orf85	1	156263336	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1275407	156263336	92987285	92	23346										
MEF2D	4209	genome.wustl.edu	37	chr1	156446854	156446854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggaagtgatgactcgcaggtCgggcttgcggctgggggctc	19	9	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:156446854C>A	ENST00000348159.4	-	7	1285	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	MEF2D_ENST00000464356.2_Missense_Mutation_p.D268Y|MEF2D_ENST00000340875.5_Missense_Mutation_p.D268Y|MEF2D_ENST00000360595.3_Missense_Mutation_p.D269Y|MEF2D_ENST00000368240.2_Missense_Mutation_p.D269Y|MEF2D_ENST00000353795.3_Missense_Mutation_p.D223Y	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	269					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCGCAGGTCGGGCTTGCGG	0.607																																																	0													81	79	80					1																	156446854		2203	4300	6503	SO:0001583	missense	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.805G>T	1.37:g.156446854C>A	ENSP00000271555:p.Asp269Tyr		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.D269Y	ENST00000348159.4	37	c.805	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895339	0.91962	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.984;0.996	T	0.63686	-0.6581	10	0.87932	D	0	-22.21	17.7508	0.88432	0.0:1.0:0.0:0.0	.	274;269;269	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Y	269;268;269;223;269;268	ENSP00000271555:D269Y;ENSP00000343159:D268Y;ENSP00000357223:D269Y;ENSP00000344705:D223Y;ENSP00000353803:D269Y;ENSP00000388505:D268Y	ENSP00000343159:D268Y	D	-	1	0	MEF2D	154713478	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	7.298000	0.78815	2.524000	0.85096	0.655000	0.94253	GAC	MEF2D	-	NULL		0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	C	NM_005920		156446854	-1	no_errors	ENST00000348159	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156446854	C	A	156446854	3	1	147	1	0	0	0	0	1	0	0	0	9481	884	31	3	784	3	MEF2D	1	156446854	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	183518	156446854	92803767	93	23347										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156921453	156921453	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcatactgctggttgttctCaaagtgctgaatgatgttcc	9	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:156921453C>G	ENST00000361409.2	-	21	2459	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	ARHGEF11_ENST00000315174.8_5'Flank|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E613Q	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	573					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTTGTTCTCAAAGTGCTGA	0.502																																																	0													187	161	170					1																	156921453		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1717G>C	1.37:g.156921453C>G	ENSP00000354644:p.Glu573Gln		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E613Q	ENST00000361409.2	37	c.1837	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904556	0.92035	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.71341	-0.54;-0.56	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000039	T	0.67748	0.2926	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.62849	-0.6767	10	0.18710	T	0.47	-26.7221	18.6414	0.91397	0.0:1.0:0.0:0.0	.	573;613	O15085;O15085-2	ARHGB_HUMAN;.	Q	613;573	ENSP00000357177:E613Q;ENSP00000354644:E573Q	ENSP00000354644:E573Q	E	-	1	0	ARHGEF11	155188077	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.126000	0.71635	2.724000	0.93272	0.563000	0.77884	GAG	ARHGEF11	-	NULL		0.502	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156921453	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156921453	C	G	156921453	3	3	147	1	0	0	0	0	1	0	0	0	896	835	29	1	2931	1	ARHGEF11	1	156921453	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	474599	156921453	92329168	94	23348										
CD1E	913	genome.wustl.edu	37	chr1	158325754	158325754	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcaggagcagcggggcactCagcgaggggacgtcctgcct	17	12	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:158325754C>T	ENST00000368167.3	+	4	1002	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.Q255*|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Nonsense_Mutation_p.Q66*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q255*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.Q253*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q165*|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000444681.2_Nonsense_Mutation_p.Q156*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q165*|CD1E_ENST00000368164.3_Nonsense_Mutation_p.Q66*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.Q66*|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	255	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCGGGGCACTCAGCGAGGGGA	0.632																																																	0													109	105	106					1																	158325754		2203	4300	6503	SO:0001587	stop_gained	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.763C>T	1.37:g.158325754C>T	ENSP00000357149:p.Gln255*		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Nonsense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.Q255*	ENST00000368167.3	37	c.763	CCDS41417.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.34|15.34	2.805928|2.805928	0.50421|0.50421	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368164;ENST00000368160;ENST00000368161;ENST00000368156|ENST00000368162	.|.	.|.	.|.	4.6|4.6	3.66|3.66	0.41972|0.41972	.|.	1.140210|.	0.06653|.	N|.	0.763105|.	.|T	.|0.36468	.|0.0968	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22382	.|-1.0218	.|3	0.37606|.	T|.	0.19|.	-2.5833|-2.5833	9.6718|9.6718	0.40017|0.40017	0.2075:0.7925:0.0:0.0|0.2075:0.7925:0.0:0.0	.|.	.|.	.|.	.|.	X|L	253;156;255;66;165;66;66;255;255;165|24	.|.	ENSP00000357138:Q165X|.	Q|S	+|+	1|2	0|0	CD1E|CD1E	156592378|156592378	0.002000|0.002000	0.14202|0.14202	0.066000|0.066000	0.19879|0.19879	0.380000|0.380000	0.30137|0.30137	0.405000|0.405000	0.21015|0.21015	1.118000|1.118000	0.41863|0.41863	0.563000|0.563000	0.77884|0.77884	CAG|TCA	CD1E	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.632	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	C	NM_030893		158325754	1	no_errors	ENST00000368167	ensembl	human	known	70_37	nonsense	SNP	0.284	T	T	158325754	C	T	158325754	4	4	147	1	0	0	0	0	0	1	0	0	2983	827	29	1	777	1	CD1E	1	158325754	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1404301	158325754	90924867	95	23349										
IGSF9	57549	genome.wustl.edu	37	chr1	159897978	159897978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgtcaccacatgctcccttCggggccatctctcagggcca	9	17	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:159897978C>T	ENST00000368094.1	-	19	3397	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R1051Q|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1067					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R1051Q(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCTCCCTTCGGGGCCATCT	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											78	72	74					1																	159897978		2198	4294	6492	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3200G>A	1.37:g.159897978C>T	ENSP00000357073:p.Arg1067Gln			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1067Q	ENST00000368094.1	37	c.3200	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112171	0.77210	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.73152	-0.72;-0.65	3.63	3.63	0.41609	.	0.000000	0.29266	U	0.012654	T	0.63558	0.2521	N	0.24115	0.695	0.37788	D	0.927261	D;D	0.89917	0.981;1.0	P;D	0.74023	0.551;0.982	T	0.64525	-0.6387	9	.	.	.	-5.1441	12.8415	0.57805	0.0:1.0:0.0:0.0	.	1067;605	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Q	1051;1067;605	ENSP00000355049:R1051Q;ENSP00000357073:R1067Q	.	R	-	2	0	IGSF9	158164602	0.982000	0.34865	0.996000	0.52242	0.941000	0.58515	2.978000	0.49305	1.852000	0.53769	0.563000	0.77884	CGA	IGSF9	-	NULL		0.667	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	C	NM_020789		159897978	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159897978	C	T	159897978	3	4	147	1	0	0	0	0	1	0	0	0	7625	884	31	1	351	1	IGSF9	1	159897978	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1572224	159897978	89352643	96	23350										
ADCY10	55811	genome.wustl.edu	37	chr1	167825584	167825584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cataatgatgaagataggaaGagtccggataagcttctcca	10	7	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:167825584G>C	ENST00000367851.4	-	17	2174	c.1990C>G	c.(1990-1992)Ctt>Gtt	p.L664V	ADCY10_ENST00000367848.1_Missense_Mutation_p.L572V|ADCY10_ENST00000545172.1_Missense_Mutation_p.L511V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	664					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGATAGGAAGAGTCCGGATA	0.443																																																	0													195	190	191					1																	167825584		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1990C>G	1.37:g.167825584G>C	ENSP00000356825:p.Leu664Val		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L664V	ENST00000367851.4	37	c.1990	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.317022	0.00235	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.64260	-0.09;-0.09;-0.09	5.68	-5.52	0.02560	.	0.944520	0.08825	N	0.888176	T	0.07324	0.0185	N	0.00926	-1.1	0.22001	N	0.999423	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.20306	-1.0279	9	0.08381	T	0.77	-4.0966	6.7231	0.23340	0.0:0.2348:0.3335:0.4317	.	511;572;664	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	V	511;664;572	ENSP00000441992:L511V;ENSP00000356825:L664V;ENSP00000356822:L572V	ENSP00000356822:L572V	L	-	1	0	ADCY10	166092208	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.392000	0.02523	-0.722000	0.04922	-0.147000	0.13772	CTT	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167825584	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.000	C	C	167825584	G	C	167825584	3	2	147	1	0	0	0	0	1	0	0	0	293	942	33	1	2910	1	ADCY10	1	167825584	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7927606	167825584	81425037	97	23351										
METTL13	51603	genome.wustl.edu	37	chr1	171753007	171753007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaggaatgtaatgccacccGacggccccagatgagcttct	11	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:171753007G>A	ENST00000361735.3	+	2	547	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	METTL13_ENST00000367737.5_Missense_Mutation_p.R94Q|METTL13_ENST00000458517.1_Missense_Mutation_p.R93Q|METTL13_ENST00000362019.3_Missense_Mutation_p.R8Q	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	94							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AATGCCACCCGACGGCCCCAG	0.507																																																	0													133	122	126					1																	171753007		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.281G>A	1.37:g.171753007G>A	ENSP00000354920:p.Arg94Gln		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.R94Q	ENST00000361735.3	37	c.281	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770407	0.31320	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.42131	0.98;0.98;2.91;0.98;0.98	5.13	4.22	0.49857	Methyltransferase type 11 (1);	0.061551	0.64402	D	0.000004	T	0.14874	0.0359	L	0.52364	1.645	0.20403	N	0.999908	P;B;P	0.47409	0.895;0.105;0.795	B;B;B	0.41440	0.271;0.013;0.357	T	0.06826	-1.0805	10	0.13853	T	0.58	-7.229	6.4666	0.21985	0.1592:0.0:0.692:0.1487	.	93;94;94	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	Q	93;8;94;94;11;8	ENSP00000401955:R93Q;ENSP00000355393:R8Q;ENSP00000356711:R94Q;ENSP00000354920:R94Q;ENSP00000356710:R11Q	ENSP00000341732:R8Q	R	+	2	0	METTL13	170019630	0.028000	0.19301	0.193000	0.23327	0.263000	0.26337	2.029000	0.41098	1.133000	0.42147	-0.136000	0.14681	CGA	METTL13	-	pfam_Methyltransf_11		0.507	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	G	NM_014955		171753007	1	no_errors	ENST00000361735	ensembl	human	known	70_37	missense	SNP	0.092	A	A	171753007	G	A	171753007	3	1	147	1	0	0	0	0	1	0	0	0	9520	1058	37	1	287	1	METTL13	1	171753007	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3927423	171753007	77497614	98	23352										
KLHL20	27252	genome.wustl.edu	37	chr1	173743497	173743497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcttctatgagtaccagaaGactaggtgtggctgtggctg	14	7	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:173743497G>T	ENST00000209884.4	+	9	1485	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	KLHL20_ENST00000546011.1_Missense_Mutation_p.R261I	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	450					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGTACCAGAAGACTAGGTGTG	0.493																																					GBM(159;862 2695 6559 23041)												0													254	221	232					1																	173743497		2203	4300	6503	SO:0001583	missense	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1349G>T	1.37:g.173743497G>T	ENSP00000209884:p.Arg450Ile		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R450I	ENST00000209884.4	37	c.1349	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.314359	0.95655	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.85171	-1.95;-1.95	5.27	5.27	0.74061	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97828	1.0261	10	0.87932	D	0	.	17.6701	0.88214	0.0:0.0:1.0:0.0	.	261;450	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	I	261;450	ENSP00000443121:R261I;ENSP00000209884:R450I	ENSP00000209884:R450I	R	+	2	0	KLHL20	172010120	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.576000	0.98192	2.456000	0.83038	0.655000	0.94253	AGA	KLHL20	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.493	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	G	NM_014458		173743497	1	no_errors	ENST00000209884	ensembl	human	known	70_37	missense	SNP	1.000	T	T	173743497	G	T	173743497	3	4	147	1	0	0	0	0	1	0	0	0	8395	942	33	3	1379	3	KLHL20	1	173743497	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1990490	173743497	75507124	99	23353										
ASTN1	460	genome.wustl.edu	37	chr1	176999980	176999980	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccgctttctctggctgctgGaggtgtgagagagaagggtg	17	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:176999980G>C	ENST00000367654.3	-	4	1185	c.974C>G	c.(973-975)tCc>tGc	p.S325C	ASTN1_ENST00000424564.2_Missense_Mutation_p.S325C|ASTN1_ENST00000361833.2_Missense_Mutation_p.S325C|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S325C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	325					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGCTGCTGGAGGTGTGAGA	0.488																																																	0													165	158	160					1																	176999980		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.974C>G	1.37:g.176999980G>C	ENSP00000356626:p.Ser325Cys		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S325C	ENST00000367654.3	37	c.974		1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540929	0.85917	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19669	2.13;2.54;2.54;2.13	5.7	5.7	0.88788	.	0.054577	0.85682	D	0.000000	T	0.31199	0.0789	L	0.27053	0.805	0.58432	D	0.99999	D;P;P	0.53151	0.958;0.828;0.828	P;P;P	0.55999	0.789;0.717;0.717	T	0.02208	-1.1195	10	0.66056	D	0.02	-30.8237	19.4356	0.94792	0.0:0.0:1.0:0.0	.	325;325;325	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	C	325	ENSP00000356629:S325C;ENSP00000354536:S325C;ENSP00000356626:S325C;ENSP00000395041:S325C	ENSP00000354536:S325C	S	-	2	0	ASTN1	175266603	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.456000	0.80751	2.671000	0.90904	0.655000	0.94253	TCC	ASTN1	-	NULL		0.488	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176999980	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176999980	G	C	176999980	3	2	147	1	0	0	0	0	1	0	0	0	1065	1174	41	1	2994	1	ASTN1	1	176999980	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3256483	176999980	72250641	100	23354										
C1orf125	126859	genome.wustl.edu	37	chr1	179503992	179503992	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catcaagaaaggagtctaaaGaagagaaagaaaatcaagat	9	4	3	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:179503992G>A	ENST00000367618.3	+	25	3313	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	976	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAGTCTAaagaagagaaaga	0.328																																																	0													53	57	56					1																	179503992		2195	4296	6491	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2926G>A	1.37:g.179503992G>A	ENSP00000356590:p.Glu976Lys		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.E976K	ENST00000367618.3	37	c.2926	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463478	0.26248	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21932	2.1;1.98	4.18	-4.76	0.03229	.	1.458220	0.04883	N	0.448112	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37454	-0.9705	10	0.11182	T	0.66	-0.6741	11.7507	0.51847	0.6183:0.0:0.3817:0.0	.	860;976	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	K	976;860;836	ENSP00000356590:E976K;ENSP00000391716:E836K	ENSP00000353471:E860K	E	+	1	0	AXDND1	177770615	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.372000	0.07504	-1.085000	0.03088	-0.218000	0.12543	GAA	AXDND1	-	NULL		0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	G	NM_144696		179503992	1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.000	A	A	179503992	G	A	179503992	3	1	147	1	0	0	0	0	1	0	0	0	1998	943	33	1	3020	1	C1orf125	1	179503992	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2504012	179503992	69746629	101	23355										
SMG7	9887	genome.wustl.edu	37	chr1	183520229	183520229	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcagcaacgtcatcctctgaGagcagttggcatcaggccag	11	12	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:183520229G>A	ENST00000347615.2	+	21	3323	c.3204G>A	c.(3202-3204)gaG>gaA	p.E1068E	SMG7_ENST00000367537.3_Silent_p.E1101E|SMG7_ENST00000507469.1_Silent_p.E1072E|SMG7_ENST00000515829.2_Silent_p.E1022E|SMG7_ENST00000456731.2_Silent_p.E980E|SMG7_ENST00000508461.1_Silent_p.E1076E	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1068					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CATCCTCTGAGAGCAGTTGGC	0.498																																																	0													81	74	76					1																	183520229		2203	4300	6503	SO:0001819	synonymous_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3204G>A	1.37:g.183520229G>A			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	pfam_EST1	p.E1072	ENST00000347615.2	37	c.3216	CCDS1355.1	1																																																																																			SMG7	-	NULL		0.498	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	G	NM_014837		183520229	1	no_errors	ENST00000507469	ensembl	human	known	70_37	silent	SNP	1.000	A	A	183520229	G	A	183520229	2	1	147	1	0	0	0	0	0	0	0	1	14828	933	33	1		1	SMG7	1	183520229	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4016237	183520229	65730392	102	23356										
C1orf26	54823	genome.wustl.edu	37	chr1	185175784	185175784	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acctgaaaccaccatggactCtactacatttactacagtgc	5	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:185175784C>T	ENST00000367500.4	+	13	2026	c.1861C>T	c.(1861-1863)Cta>Tta	p.L621L	SWT1_ENST00000367501.3_Silent_p.L621L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	621										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACCATGGACTCTACTACATTT	0.299																																																	0													66	69	68					1																	185175784		2202	4295	6497	SO:0001819	synonymous_variant	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1861C>T	1.37:g.185175784C>T			Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	smart_PINc_nuc-bd	p.L621	ENST00000367500.4	37	c.1861	CCDS1367.1	1																																																																																			SWT1	-	NULL		0.299	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	C	NM_017673		185175784	1	no_errors	ENST00000367500	ensembl	human	known	70_37	silent	SNP	0.998	T	T	185175784	C	T	185175784	2	4	147	1	0	0	0	0	0	0	0	1	2040	912	32	1		1	C1orf26	1	185175784	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1655555	185175784	64074837	103	23357										
ASPM	259266	genome.wustl.edu	37	chr1	197115342	197115342	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaagtgggagatcttcacttCtgccacctcctcgttagggt	11	11	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:197115342C>T	ENST00000367409.4	-	1	482	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ASPM_ENST00000294732.7_Missense_Mutation_p.E76K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	76					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCTTCACTTCTGCCACCTCC	0.612																																																	0													118	123	121					1																	197115342		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.226G>A	1.37:g.197115342C>T	ENSP00000356379:p.Glu76Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.E76K	ENST00000367409.4	37	c.226	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343345	0.41498	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.60299	0.2;1.59	4.22	1.04	0.20106	.	1.073020	0.07194	N	0.856271	T	0.44117	0.1278	L	0.36672	1.1	0.09310	N	1	B;B	0.27068	0.139;0.167	B;B	0.22386	0.039;0.024	T	0.31998	-0.9923	10	0.45353	T	0.12	.	4.9684	0.14102	0.0:0.4418:0.3076:0.2507	.	76;76	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	76	ENSP00000356379:E76K;ENSP00000294732:E76K	ENSP00000294732:E76K	E	-	1	0	ASPM	195381965	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	1.207000	0.32333	0.019000	0.15079	0.655000	0.94253	GAA	ASPM	-	NULL		0.612	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197115342	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.000	T	T	197115342	C	T	197115342	3	4	147	1	0	0	0	0	1	0	0	0	1057	922	32	1	10319	1	ASPM	1	197115342	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	11939558	197115342	52135279	104	23358										
PTPRC	5788	genome.wustl.edu	37	chr1	198701647	198701647	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aactctctgagataaacggaGatgcagggtcaaactacata	9	8	2	2	rs372940886		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:198701647G>C	ENST00000367376.2	+	20	2269	c.2098G>C	c.(2098-2100)Gat>Cat	p.D700H	PTPRC_ENST00000348564.6_Missense_Mutation_p.D541H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D702H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D652H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D539H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	700	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATAAACGGAGATGCAGGGTC	0.318																																																	0													86	82	83					1																	198701647		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2098G>C	1.37:g.198701647G>C	ENSP00000356346:p.Asp700His		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D702H	ENST00000367376.2	37	c.2104		1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457926	0.84317	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	D	0.84070	-1.8	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125962	0.35870	N	0.002930	D	0.89385	0.6700	L	0.52759	1.655	0.58432	D	0.999996	B;D;D;D;D	0.71674	0.421;0.996;0.995;0.995;0.998	B;P;D;D;D	0.74023	0.167;0.895;0.972;0.972;0.982	D	0.88890	0.3345	10	0.56958	D	0.05	.	20.1013	0.97878	0.0:0.0:1.0:0.0	.	636;636;541;652;700	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	H	702;636;652;652;586;700;634;539	ENSP00000193532:D652H	ENSP00000306782:D539H	D	+	1	0	PTPRC	196968270	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.588000	0.67517	2.748000	0.94277	0.655000	0.94253	GAT	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G			198701647	1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	198701647	G	C	198701647	3	2	147	1	0	0	0	0	1	0	0	0	12827	942	33	1	2183	1	PTPRC	1	198701647	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1586305	198701647	50548974	105	23359										
NAV1	89796	genome.wustl.edu	37	chr1	201781717	201781717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagagctgcttcgggtgctcGactgggtacccaagctgtgg	15	10	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:201781717G>A	ENST00000367296.4	+	27	5569	c.5149G>A	c.(5149-5151)Gac>Aac	p.D1717N	NAV1_ENST00000295624.6_Missense_Mutation_p.D1714N|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.D1670N|NAV1_ENST00000367297.4_Missense_Mutation_p.D1709N|NAV1_ENST00000367300.3_Missense_Mutation_p.D1657N|NAV1_ENST00000367295.1_Missense_Mutation_p.D1323N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1717					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCGGGTGCTCGACTGGGTACC	0.572																																																	0													200	175	184					1																	201781717		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5149G>A	1.37:g.201781717G>A	ENSP00000356265:p.Asp1717Asn		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D1717N	ENST00000367296.4	37	c.5149	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.847040	0.97023	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.09073	3.11;3.02;3.03;3.03;3.11;3.03	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00168	-1.1963	10	0.62326	D	0.03	-33.8786	20.2501	0.98402	0.0:0.0:1.0:0.0	.	1323;1714	Q8NEY1-5;Q8NEY1-3	.;.	N	1670;1717;1714;1709;1657;1323;126	ENSP00000356271:D1670N;ENSP00000356265:D1717N;ENSP00000295624:D1714N;ENSP00000356266:D1709N;ENSP00000356269:D1657N;ENSP00000356264:D1323N	ENSP00000295624:D1714N	D	+	1	0	NAV1	200048340	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.761000	0.98940	2.880000	0.98712	0.650000	0.86243	GAC	NAV1	-	NULL		0.572	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201781717	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201781717	G	A	201781717	3	1	147	1	0	0	0	0	1	0	0	0	10206	1058	37	1	5312	1	NAV1	1	201781717	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3080070	201781717	47468904	106	23360										
ELF3	1999	genome.wustl.edu	37	chr1	201984422	201984422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaactcaagcggctggaagGaggaagaggttctccagagt	14	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:201984422G>A	ENST00000359651.3	+	8	4279	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	ELF3_ENST00000367284.5_Missense_Mutation_p.E363K|ELF3_ENST00000367283.3_Missense_Mutation_p.E363K|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CGGCTGGAAGGAGGAAGAGGT	0.562																																																	0													72	72	72					1																	201984422		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1087G>A	1.37:g.201984422G>A	ENSP00000352673:p.Glu363Lys			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.E363K	ENST00000359651.3	37	c.1087	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276439	0.80580	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.14640	2.49;2.49;2.49	4.61	4.61	0.57282	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.249685	0.33438	N	0.004905	T	0.17662	0.0424	L	0.60455	1.87	0.36571	D	0.873023	P	0.37061	0.58	B	0.39660	0.306	T	0.09997	-1.0649	10	0.72032	D	0.01	.	11.6357	0.51202	0.0:0.0:0.8221:0.1779	.	363	P78545	ELF3_HUMAN	K	363;363;363;340	ENSP00000352673:E363K;ENSP00000356253:E363K;ENSP00000356252:E363K	ENSP00000311348:E340K	E	+	1	0	ELF3	200251045	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.214000	0.58527	2.421000	0.82119	0.555000	0.69702	GAG	ELF3	-	NULL		0.562	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201984422	1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201984422	G	A	201984422	3	1	147	1	0	0	0	0	1	0	0	0	5067	1175	41	1	1117	1	ELF3	1	201984422	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	202705	201984422	47266199	107	23361										
UBE2T	29089	genome.wustl.edu	37	chr1	202302443	202302443	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcaacacagttgcgatgttGagggatggtctccaagcacc	12	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:202302443G>A	ENST00000367274.4	-	5	455	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	102					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						TTGCGATGTTGAGGGATGGTC	0.408																																																	0													235	230	232					1																	202302443		2203	4300	6503	SO:0001819	synonymous_variant	29089			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"Ubiquitin-conjugating enzymes E2"	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.306C>T	1.37:g.202302443G>A			Q2TU36	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L102	ENST00000367274.4	37	c.306	CCDS1425.1	1																																																																																			UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.408	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	G	NM_014176		202302443	-1	no_errors	ENST00000367274	ensembl	human	known	70_37	silent	SNP	0.935	A	A	202302443	G	A	202302443	2	1	147	1	0	0	0	0	0	0	0	1	16904	1277	45	1		1	UBE2T	1	202302443	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	318021	202302443	46948178	108	23362										
TMEM81	388730	genome.wustl.edu	37	chr1	205052803	205052803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttttccactttgggtggtGaggcttggagtagctgtcca	13	8	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:205052803G>A	ENST00000367167.3	-	1	842	c.646C>T	c.(646-648)Cac>Tac	p.H216Y		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	216						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTTGGGTGGTGAGGCTTGGAG	0.473																																																	0													123	113	116					1																	205052803		2203	4300	6503	SO:0001583	missense	388730			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.646C>T	1.37:g.205052803G>A	ENSP00000356135:p.His216Tyr		Q6UVZ4	Missense_Mutation	SNP	pfscan_Ig-like	p.H216Y	ENST00000367167.3	37	c.646	CCDS1450.1	1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734610	0.03111	.	.	ENSG00000174529	ENST00000367167	T	0.30182	1.54	5.79	0.642	0.17765	.	1.339410	0.04729	N	0.420702	T	0.18045	0.0433	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16305	-1.0407	10	0.08179	T	0.78	-18.348	2.1607	0.03824	0.2758:0.1199:0.4811:0.1232	.	216	Q6P7N7	TMM81_HUMAN	Y	216	ENSP00000356135:H216Y	ENSP00000356135:H216Y	H	-	1	0	TMEM81	203319426	0.004000	0.15560	0.032000	0.17829	0.143000	0.21401	-0.393000	0.07305	-0.120000	0.11809	-0.140000	0.14226	CAC	TMEM81	-	NULL		0.473	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM81	HGNC	protein_coding	OTTHUMT00000090076.1	G	NM_203376		205052803	-1	no_errors	ENST00000367167	ensembl	human	known	70_37	missense	SNP	0.000	A	A	205052803	G	A	205052803	3	1	147	1	0	0	0	0	1	0	0	0	16235	1290	45	1	125	1	TMEM81	1	205052803	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2750360	205052803	44197818	109	23363										
SLC26A9	115019	genome.wustl.edu	37	chr1	205890709	205890709	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcaccttggccagggccttGatgcccatcaagtccacgaa	9	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:205890709G>C	ENST00000367135.3	-	17	2153	c.2040C>G	c.(2038-2040)atC>atG	p.I680M	SLC26A9_ENST00000340781.4_Missense_Mutation_p.I680M|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I680M	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	680	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGGGCCTTGATGCCCATCA	0.617																																																	0													32	27	28					1																	205890709		2203	4300	6503	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2040C>G	1.37:g.205890709G>C	ENSP00000356103:p.Ile680Met		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I680M	ENST00000367135.3	37	c.2040	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070309	0.55539	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.88818	-2.43;-2.43;-2.43	4.43	4.43	0.53597	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.301427	0.29286	N	0.012600	D	0.88306	0.6401	L	0.46741	1.465	0.35098	D	0.764982	P;P	0.50819	0.627;0.939	P;P	0.53006	0.5;0.715	D	0.89471	0.3743	10	0.34782	T	0.22	.	10.2509	0.43368	0.0:0.1441:0.7079:0.148	.	680;680	Q7LBE3;B1AVM8	S26A9_HUMAN;.	M	680	ENSP00000341682:I680M;ENSP00000356103:I680M;ENSP00000356102:I680M	ENSP00000341682:I680M	I	-	3	3	SLC26A9	204157332	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.955000	0.29188	2.396000	0.81511	0.655000	0.94253	ATC	SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.617	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	G	NM_052934		205890709	-1	no_errors	ENST00000340781	ensembl	human	known	70_37	missense	SNP	1.000	C	C	205890709	G	C	205890709	3	2	147	1	0	0	0	0	1	0	0	0	14554	1280	45	1	651	1	SLC26A9	1	205890709	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	837906	205890709	43359912	110	23364										
LGTN	1939	genome.wustl.edu	37	chr1	206769124	206769124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attggacagattctccctttCttcacaatgggctcttgtcc	7	12	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:206769124C>T	ENST00000271764.2	-	13	1660	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	EIF2D_ENST00000367114.3_Silent_p.K360K|EIF2D_ENST00000472709.2_5'UTR	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	484					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCTCCCTTTCTTCACAATGG	0.398																																																	0													181	170	174					1																	206769124		2203	4300	6503	SO:0001819	synonymous_variant	1939			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1452G>A	1.37:g.206769124C>T			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.K484	ENST00000271764.2	37	c.1452	CCDS1465.1	1																																																																																			EIF2D	-	superfamily_TIF_SUI1		0.398	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	C	NM_006893		206769124	-1	no_errors	ENST00000271764	ensembl	human	known	70_37	silent	SNP	1.000	T	T	206769124	C	T	206769124	2	4	147	1	0	0	0	0	0	0	0	1	8780	912	32	1		1	LGTN	1	206769124	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	878415	206769124	42481497	111	23365										
SYT14	255928	genome.wustl.edu	37	chr1	210126072	210126072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtggagagagaacctgtgGagtacatgaacttatctgta	13	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:210126072G>A	ENST00000472886.1	+	2	46	c.32G>A	c.(31-33)gGa>gAa	p.G11E	SYT14_ENST00000367019.1_Missense_Mutation_p.G11E|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.G11E|SYT14_ENST00000367015.1_5'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.E16K|SYT14_ENST00000537238.1_5'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.G11E			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	11					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGAACCTGTGGAGTACATGAA	0.303																																																	0													97	97	97					1																	210126072		2203	4298	6501	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.32G>A	1.37:g.210126072G>A	ENSP00000418901:p.Gly11Glu		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E16K	ENST00000472886.1	37	c.46	CCDS31014.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.567587|3.567587	0.65651|0.65651	.|.	.|.	ENSG00000143469|ENSG00000143469	ENST00000422431|ENST00000534859;ENST00000399639;ENST00000367019;ENST00000472886	T|T;T;T;T	0.06294|0.29655	3.32|2.6;1.56;2.65;2.88	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.069566	.|0.56097	.|U	.|0.000025	T|T	0.47414|0.47414	0.1444|0.1444	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D|D;D	0.56035|0.76494	0.974|0.999;0.999	D|D;D	0.70487|0.87578	0.969|0.998;0.998	T|T	0.45804|0.45804	-0.9236|-0.9236	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0358|14.0358	0.64644|0.64644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16|11;11	F5H426|Q8NB59;Q8NB59-6	.|SYT14_HUMAN;.	K|E	16|11	ENSP00000389039:E16K|ENSP00000442891:G11E;ENSP00000445837:G11E;ENSP00000355986:G11E;ENSP00000418901:G11E	ENSP00000389039:E16K|ENSP00000355986:G11E	E|G	+|+	1|2	0|0	SYT14|SYT14	208192695|208192695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.563000|5.563000	0.67352|0.67352	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GAG|GGA	SYT14	-	NULL		0.303	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	G	NM_153262		210126072	1	no_errors	ENST00000422431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	210126072	G	A	210126072	3	1	147	1	0	0	0	0	1	0	0	0	15500	1175	41	1	52	1	SYT14	1	210126072	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3356948	210126072	39124549	112	23366										
RRP15	51018	genome.wustl.edu	37	chr1	218458788	218458788	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acgaggccacagacacttctGatagtgaaggtaatgtggta	12	7	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:218458788G>C	ENST00000366932.3	+	1	160	c.130G>C	c.(130-132)Gat>Cat	p.D44H	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	44						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D44N(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGACACTTCTGATAGTGAAGG	0.517																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											126	110	115					1																	218458788		2203	4300	6503	SO:0001583	missense	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.130G>C	1.37:g.218458788G>C	ENSP00000355899:p.Asp44His			Missense_Mutation	SNP	pfam_DUF1665	p.D44H	ENST00000366932.3	37	c.130	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	G	9.637	1.137983	0.21123	.	.	ENSG00000067533	ENST00000366932	T	0.30182	1.54	4.12	2.27	0.28462	.	0.327243	0.30446	N	0.009608	T	0.25005	0.0607	L	0.29908	0.895	0.09310	N	1	D	0.56746	0.977	P	0.48952	0.596	T	0.05716	-1.0868	10	0.46703	T	0.11	-5.4991	6.4316	0.21801	0.2167:0.0:0.7833:0.0	.	44	Q9Y3B9	RRP15_HUMAN	H	44	ENSP00000355899:D44H	ENSP00000355899:D44H	D	+	1	0	RRP15	216525411	0.020000	0.18652	0.001000	0.08648	0.013000	0.08279	1.429000	0.34903	0.699000	0.31761	-0.145000	0.13849	GAT	RRP15	-	NULL		0.517	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	G	NM_016052		218458788	1	no_errors	ENST00000366932	ensembl	human	known	70_37	missense	SNP	0.001	C	C	218458788	G	C	218458788	3	2	147	1	0	0	0	0	1	0	0	0	13717	1290	45	1	132	1	RRP15	1	218458788	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8332716	218458788	30791833	113	23367										
MIA3	375056	genome.wustl.edu	37	chr1	222794559	222794559	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcccggattgtcgttttgtGaattttaaaaaaggtgatcc	11	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:222794559G>A	ENST00000344922.5	+	2	217	c.192G>A	c.(190-192)gtG>gtA	p.V64V	MIA3_ENST00000344507.1_Silent_p.V64V|MIA3_ENST00000344441.6_Silent_p.V64V|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	64	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCGTTTTGTGAATTTTAAAA	0.378																																																	0													134	129	131					1																	222794559		1833	4078	5911	SO:0001819	synonymous_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.192G>A	1.37:g.222794559G>A			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain	p.V64	ENST00000344922.5	37	c.192	CCDS41470.1	1																																																																																			MIA3	-	pfam_SH3_2,superfamily_SH3_domain		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222794559	1	no_errors	ENST00000344441	ensembl	human	known	70_37	silent	SNP	0.997	A	A	222794559	G	A	222794559	2	1	147	1	0	0	0	0	0	0	0	1	9588	1277	45	1		1	MIA3	1	222794559	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4335771	222794559	26456062	114	23368										
TP53BP2	7159	genome.wustl.edu	37	chr1	223971928	223971928	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcatgcagtctccttctttCatgggcagctcatcatcatt	7	12	7	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:223971928C>A	ENST00000343537.7	-	17	3543	c.3252G>T	c.(3250-3252)atG>atT	p.M1084I	TP53BP2_ENST00000391879.2_Missense_Mutation_p.M317I|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.M955I	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1078	Mediates interaction with APC2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTCCTTCTTTCATGGGCAGCT	0.438																																																	0													196	183	187					1																	223971928		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3252G>T	1.37:g.223971928C>A	ENSP00000341957:p.Met1084Ile		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.M1084I	ENST00000343537.7	37	c.3252	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552912	0.65425	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.46819	2.41;0.86;2.41	5.97	5.97	0.96955	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.231016	0.53938	D	0.000048	T	0.29061	0.0722	N	0.01134	-0.995	0.48901	D	0.999722	B;B	0.21520	0.057;0.057	B;B	0.32289	0.093;0.143	T	0.40664	-0.9551	10	0.66056	D	0.02	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	1084;1078	B4DG66;Q13625	.;ASPP2_HUMAN	I	955;1084;317	ENSP00000375750:M955I;ENSP00000341957:M1084I;ENSP00000375751:M317I	ENSP00000341957:M1084I	M	-	3	0	TP53BP2	222038551	1.000000	0.71417	0.615000	0.29064	0.996000	0.88848	4.752000	0.62176	2.833000	0.97629	0.585000	0.79938	ATG	TP53BP2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3		0.438	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	C	NM_001031685, NM_005426		223971928	-1	no_errors	ENST00000343537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	223971928	C	A	223971928	3	1	147	1	0	0	0	0	1	0	0	0	16415	826	29	3	160	3	TP53BP2	1	223971928	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1177369	223971928	25278693	115	23369										
LBR	3930	genome.wustl.edu	37	chr1	225592163	225592163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acccaagtaattggggtggcGaacaaagccccaccatccag	10	13	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:225592163G>A	ENST00000338179.2	-	13	1755	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	LBR_ENST00000272163.4_Missense_Mutation_p.R544C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	544					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTGGGGTGGCGAACAAAGCCC	0.413																																																	0													67	69	68					1																	225592163		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1630C>T	1.37:g.225592163G>A	ENSP00000339883:p.Arg544Cys		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.R544C	ENST00000338179.2	37	c.1630	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.274431	0.95459	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.98762	-5.12;-5.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97985	1.0351	10	0.87932	D	0	-19.7542	20.3316	0.98722	0.0:0.0:1.0:0.0	.	544	Q14739	LBR_HUMAN	C	544	ENSP00000272163:R544C;ENSP00000339883:R544C	ENSP00000272163:R544C	R	-	1	0	LBR	223658786	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.708000	0.98727	2.871000	0.98454	0.655000	0.94253	CGC	LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295		0.413	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225592163	-1	no_errors	ENST00000272163	ensembl	human	known	70_37	missense	SNP	1.000	A	A	225592163	G	A	225592163	3	1	147	1	0	0	0	0	1	0	0	0	8672	1058	37	1	225	1	LBR	1	225592163	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1620235	225592163	23658458	116	23370										
CABC1	56997	genome.wustl.edu	37	chr1	227171315	227171315	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcatggccgtgttgaacatGagcaacatgcttccagaagg	11	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:227171315G>C	ENST00000366779.1	+	14	3914	c.1143G>C	c.(1141-1143)atG>atC	p.M381I	ADCK3_ENST00000458507.2_Missense_Mutation_p.M102I|ADCK3_ENST00000433743.2_Missense_Mutation_p.M55I|ADCK3_ENST00000366778.1_Missense_Mutation_p.M329I|ADCK3_ENST00000366777.3_Missense_Mutation_p.M381I|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	381	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGTTGAACATGAGCAACATGC	0.592																																																	0													102	81	88					1																	227171315		2203	4300	6503	SO:0001583	missense	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1143G>C	1.37:g.227171315G>C	ENSP00000355741:p.Met381Ile		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.M381I	ENST00000366779.1	37	c.1143	CCDS1557.1	1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977534	0.18812	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.38	5.38	0.77491	ABC-1 (1);Protein kinase-like domain (1);	0.035281	0.85682	D	0.000000	T	0.38188	0.1031	N	0.22421	0.69	0.58432	D	0.999997	B;B	0.21688	0.001;0.059	B;B	0.21708	0.012;0.036	T	0.10965	-1.0607	10	0.30078	T	0.28	-41.9553	19.1069	0.93300	0.0:0.0:1.0:0.0	.	55;381	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	I	381;329;381;306;102;226;332;55	ENSP00000355741:M381I;ENSP00000355740:M329I;ENSP00000355739:M381I;ENSP00000355738:M306I;ENSP00000403704:M102I;ENSP00000355737:M226I;ENSP00000404550:M55I	ENSP00000355737:M226I	M	+	3	0	ADCK3	225237938	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.896000	0.56266	2.525000	0.85131	0.462000	0.41574	ATG	ADCK3	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	G	NM_020247		227171315	1	no_errors	ENST00000366777	ensembl	human	known	70_37	missense	SNP	1.000	C	C	227171315	G	C	227171315	3	2	147	1	0	0	0	0	1	0	0	0	2532	1290	45	1	1173	1	CABC1	1	227171315	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1579152	227171315	22079306	117	23371										
OBSCN	84033	genome.wustl.edu	37	chr1	228402796	228402796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agttcccggggactgtccacCtgggtaagtgggacctccct	13	13	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:228402796C>A	ENST00000422127.1	+	5	1869	c.1825C>A	c.(1825-1827)Ctg>Atg	p.L609M	C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000284548.11_Missense_Mutation_p.L609M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.L609M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	609	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACTGTCCACCTGGGTAAGTG	0.632																																																	0													30	35	33					1																	228402796		2002	4175	6177	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1825C>A	1.37:g.228402796C>A	ENSP00000409493:p.Leu609Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L609M	ENST00000422127.1	37	c.1825	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670967	0.47781	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.36699	1.24;1.24	5.55	3.67	0.42095	Fibronectin, type III (1);	0.000000	0.64402	D	0.000008	T	0.56441	0.1985	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.53387	-0.8446	10	0.33940	T	0.23	.	11.3391	0.49523	0.0:0.8509:0.0:0.1491	.	609;609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	609	ENSP00000284548:L609M;ENSP00000409493:L609M	ENSP00000284548:L609M	L	+	1	2	OBSCN	226469419	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	3.812000	0.55628	0.702000	0.31825	0.655000	0.94253	CTG	OBSCN	-	superfamily_Fibronectin_type3		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228402796	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	228402796	C	A	228402796	3	1	147	1	0	0	0	0	1	0	0	0	10836	680	24	4	1839	4	OBSCN	1	228402796	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1231481	228402796	20847825	118	23372										
OBSCN	84033	genome.wustl.edu	37	chr1	228559841	228559841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagttccccagggtcagcctCccaggcgagctcttcccaag	10	17	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:228559841C>T	ENST00000422127.1	+	94	21406	c.21362C>T	c.(21361-21363)tCc>tTc	p.S7121F	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4755F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S8078F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7121					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGTCAGCCTCCCAGGCGAGC	0.662																																																	0													9	10	10					1																	228559841		1836	4069	5905	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21362C>T	1.37:g.228559841C>T	ENSP00000409493:p.Ser7121Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S7121F	ENST00000422127.1	37	c.21362	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022015	0.35701	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.64085	-0.08;0.01	1.54	-2.33	0.06724	.	.	.	.	.	T	0.39462	0.1079	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.41790	T	0.15	.	2.2917	0.04140	0.0:0.2362:0.3069:0.4569	.	7121	Q5VST9	OBSCN_HUMAN	F	7121;4755	ENSP00000409493:S7121F;ENSP00000355668:S4755F	ENSP00000355668:S4755F	S	+	2	0	OBSCN	226626464	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.253000	0.08794	-1.065000	0.03168	-0.834000	0.03071	TCC	OBSCN	-	NULL		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559841	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	T	T	228559841	C	T	228559841	3	4	147	1	0	0	0	0	1	0	0	0	10836	855	30	1	22942	1	OBSCN	1	228559841	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	157045	228559841	20690780	119	23373										
EXOC8	149371	genome.wustl.edu	37	chr1	231472834	231472834	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcgatacatcccacgccgctGaggcagccaggtagccacca	11	16	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:231472834G>A	ENST00000360394.2	-	1	744	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	EXOC8_ENST00000366645.1_Nonsense_Mutation_p.Q216*|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	220	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCACGCCGCTGAGGCAGCCAG	0.552																																																	0													81	75	77					1																	231472834		2203	4300	6503	SO:0001587	stop_gained	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.658C>T	1.37:g.231472834G>A	ENSP00000353564:p.Gln220*		B3KU33|Q5TE82	Nonsense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q220*	ENST00000360394.2	37	c.658	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.871103	0.97049	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	.	.	.	5.73	5.73	0.89815	.	0.110394	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.5678	12.9024	0.58133	0.0:0.0:0.7301:0.2699	.	.	.	.	X	220;216	.	ENSP00000353564:Q220X	Q	-	1	0	EXOC8	229539457	1.000000	0.71417	0.990000	0.47175	0.730000	0.41778	6.624000	0.74243	2.694000	0.91930	0.655000	0.94253	CAG	EXOC8	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.552	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		G	NM_175876		231472834	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	231472834	G	A	231472834	4	1	147	1	0	0	0	0	0	1	0	0	5323	1299	45	1	1523	1	EXOC8	1	231472834	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2912993	231472834	17777787	120	23374										
EXOC8	149371	genome.wustl.edu	37	chr1	231473335	231473335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggttctgcgccgtctcctCcgccagcgcctggatgcgct	12	17	2	0	rs139487910		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:231473335C>T	ENST00000360394.2	-	1	243	c.157G>A	c.(157-159)Gag>Aag	p.E53K	EXOC8_ENST00000366645.1_Missense_Mutation_p.E49K|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	53					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E53K(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCCGTCTCCTCCGCCAGCGCC	0.637																																																	1	Substitution - Missense(1)	skin(1)											44	38	40					1																	231473335		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.157G>A	1.37:g.231473335C>T	ENSP00000353564:p.Glu53Lys		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E53K	ENST00000360394.2	37	c.157	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.281754	0.95489	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77358	-1.09;-1.08	5.39	5.39	0.77823	.	0.060898	0.64402	D	0.000003	T	0.70753	0.3260	L	0.50333	1.59	0.80722	D	1	P	0.37914	0.611	B	0.34536	0.185	T	0.68526	-0.5385	10	0.07813	T	0.8	-29.2115	19.3561	0.94414	0.0:1.0:0.0:0.0	.	53	Q8IYI6	EXOC8_HUMAN	K	53;49	ENSP00000353564:E53K;ENSP00000355605:E49K	ENSP00000353564:E53K	E	-	1	0	EXOC8	229539958	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.435000	0.80391	2.810000	0.96702	0.650000	0.86243	GAG	EXOC8	-	pfam_Vps51		0.637	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		C	NM_175876		231473335	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	1.000	T	T	231473335	C	T	231473335	3	4	147	1	0	0	0	0	1	0	0	0	5323	864	30	1	2024	1	EXOC8	1	231473335	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	501	231473335	17777286	121	23375										
PCNXL2	80003	genome.wustl.edu	37	chr1	233394164	233394164	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcccgtgatgaagaactgtGatccttgatggcatttcccc	9	11	0	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:233394164G>T	ENST00000258229.9	-	5	1678	c.1444C>A	c.(1444-1446)Cac>Aac	p.H482N	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	482						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAAGAACTGTGATCCTTGATG	0.537																																																	0													66	69	68					1																	233394164		1992	4159	6151	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1444C>A	1.37:g.233394164G>T	ENSP00000258229:p.His482Asn		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.H482N	ENST00000258229.9	37	c.1444	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	4.085	0.013765	0.07959	.	.	ENSG00000135749	ENST00000258229	T	0.07688	3.17	4.48	-8.96	0.00761	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	9	0.25106	T	0.35	.	5.5023	0.16834	0.1479:0.2345:0.4693:0.1483	.	482	A6NKB5	PCX2_HUMAN	N	482	ENSP00000258229:H482N	ENSP00000258229:H482N	H	-	1	0	PCNXL2	231460787	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.418000	0.02462	-3.530000	0.00146	-0.793000	0.03317	CAC	PCNXL2	-	NULL		0.537	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233394164	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.000	T	T	233394164	G	T	233394164	3	4	147	1	0	0	0	0	1	0	0	0	11616	1290	45	3	5089	3	PCNXL2	1	233394164	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1920829	233394164	15856457	122	23376										
PCNXL2	80003	genome.wustl.edu	37	chr1	233394695	233394695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgctgctcaggctgtcctGaggtgacttgctttgtaccc	12	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:233394695G>A	ENST00000258229.9	-	5	1147	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	305						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGCTGTCCTGAGGTGACTTG	0.567																																																	0													74	76	75					1																	233394695		2055	4202	6257	SO:0001587	stop_gained	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.913C>T	1.37:g.233394695G>A	ENSP00000258229:p.Gln305*		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.Q305*	ENST00000258229.9	37	c.913	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.461670	0.97585	.	.	ENSG00000135749	ENST00000258229	.	.	.	4.24	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.31826	N	0.625292	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	10.7143	0.46002	0.0903:0.0:0.9097:0.0	.	.	.	.	X	305	.	ENSP00000258229:Q305X	Q	-	1	0	PCNXL2	231461318	0.021000	0.18746	0.009000	0.14445	0.020000	0.10135	1.907000	0.39897	1.123000	0.41961	0.455000	0.32223	CAG	PCNXL2	-	NULL		0.567	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233394695	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	nonsense	SNP	0.037	A	A	233394695	G	A	233394695	4	1	147	1	0	0	0	0	0	1	0	0	11616	1299	45	1	5620	1	PCNXL2	1	233394695	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	531	233394695	15855926	123	23377										
ARID4B	51742	genome.wustl.edu	37	chr1	235423998	235423998	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctgtcttgatcttggcttCacaaaaggctcctctgtatt	8	10	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:235423998C>T	ENST00000264183.3	-	3	573	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	ARID4B_ENST00000366603.2_Missense_Mutation_p.E26K|ARID4B_ENST00000349213.3_Missense_Mutation_p.E26K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	26					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATCTTGGCTTCACAAAAGGCT	0.343																																																	0													114	108	110					1																	235423998		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.76G>A	1.37:g.235423998C>T	ENSP00000264183:p.Glu26Lys		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E26K	ENST00000264183.3	37	c.76	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.942552	0.97128	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.71103	-0.29;-0.54;-0.54;0.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.997	D;D;D;D	0.85130	0.981;0.997;0.994;0.985	D	0.87350	0.2337	10	0.87932	D	0	-25.3314	19.6273	0.95682	0.0:1.0:0.0:0.0	.	26;26;26;26	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	K	26	ENSP00000264184:E26K;ENSP00000355562:E26K;ENSP00000264183:E26K;ENSP00000391497:E26K	ENSP00000264183:E26K	E	-	1	0	ARID4B	233490621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.732000	0.93576	0.555000	0.69702	GAA	ARID4B	-	NULL		0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235423998	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	1.000	T	T	235423998	C	T	235423998	3	4	147	1	0	0	0	0	1	0	0	0	920	835	29	1	3950	1	ARID4B	1	235423998	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2029303	235423998	13826623	124	23378										
HEATR1	55127	genome.wustl.edu	37	chr1	236750721	236750722	+	Frame_Shift_Ins	INS	-	-	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cattctccattctttgaaagINSttctgctctttgaaagagat							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:236750721_236750722insT	ENST00000366582.3	-	14	1809_1810	c.1695_1696insA	c.(1693-1698)gaacttfs	p.L566fs	HEATR1_ENST00000366581.2_Frame_Shift_Ins_p.L566fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	566					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCTTTGAAAGTTCTGCTCTTT	0.297																																																	0																																										SO:0001589	frameshift_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1696dupA	1.37:g.236750723_236750723dupT	ENSP00000355541:p.Leu566fs		Q5T3Q8|Q6P197|Q9NW23	Frame_Shift_Ins	INS	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L565fs	ENST00000366582.3	37	c.1696_1695	CCDS31066.1	1																																																																																			HEATR1	-	superfamily_ARM-type_fold		0.297	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	XM_375853		236750722	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.993	T	T	236750722	-	T	236750721	7	5	147	1	0	1	1	0	0	0	0	0	7047	1029	36	0	4866	0	HEATR1	1	236750721	Frame_Shift_Ins	INS	-	TCGA-IR-A3LA-01A-11D-A22X-09	1326723	236750721	12499900	125	23379	129	2								
HEATR1	55127	genome.wustl.edu	37	chr1	236750724	236750724	+	Missense_Mutation	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctccattctttgaaagttCtgctctttgaaagagattca							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:236750724C>T	ENST00000366582.3	-	14	1807	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E565K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	565					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTGAAAGTTCTGCTCTTTGA	0.299																																																	0													46	44	45					1																	236750724		2199	4292	6491	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1693G>A	1.37:g.236750724C>T	ENSP00000355541:p.Glu565Lys		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E565K	ENST00000366582.3	37	c.1693	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979702	0.74360	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68331	0.61;-0.32	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.332477	0.35291	N	0.003308	T	0.63965	0.2556	L	0.50919	1.6	0.80722	D	1	B	0.17038	0.02	B	0.20767	0.031	T	0.58047	-0.7705	10	0.33940	T	0.23	.	18.3473	0.90326	0.0:1.0:0.0:0.0	.	565	Q9H583	HEAT1_HUMAN	K	565	ENSP00000355541:E565K;ENSP00000355540:E565K	ENSP00000355540:E565K	E	-	1	0	HEATR1	234817347	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.085000	0.57657	2.632000	0.89209	0.655000	0.94253	GAA	HEATR1	-	superfamily_ARM-type_fold		0.299	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236750724	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	236750724	C	T	236750724	3	4	147	1	0	0	0	0	1	0	0	0	7047	922	32	1	4869	1	HEATR1	1	236750724	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3	236750724	12499897	126	23380	129	2								
PPPDE1	51029	genome.wustl.edu	37	chr1	244852595	244852595	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accccttttctggaatatttGaaatttccccaggaaatgct	6	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:244852595G>A	ENST00000302550.11	+	3	539	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	54	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										TGGAATATTTGAAATTTCCCC	0.328																																																	0													92	102	99					1																	244852595		2203	4295	6498	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"chromosome 1 open reading frame 121", "family with sequence similarity 152, member A", "PPPDE peptidase domain containing 1"	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.160G>A	1.37:g.244852595G>A	ENSP00000306528:p.Glu54Lys		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	pfam_DUF862_euk	p.E54K	ENST00000302550.11	37	c.160	CCDS1626.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.721971	0.96839	.	.	ENSG00000121644	ENST00000302550;ENST00000418162	.	.	.	6.17	6.17	0.99709	Domain of unknown function DUF862, eukaryotic (1);	0.041302	0.85682	D	0.000000	D	0.83626	0.5295	M	0.86097	2.795	0.80722	D	1	D	0.61080	0.989	D	0.66979	0.948	T	0.79647	-0.1716	9	0.27785	T	0.31	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	54	Q9BSY9	PPDE1_HUMAN	K	54;71	.	ENSP00000306528:E54K	E	+	1	0	PPPDE1	242919218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.947000	0.93000	2.941000	0.99782	0.655000	0.94253	GAA	DESI2	-	pfam_DUF862_euk		0.328	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DESI2	HGNC	protein_coding	OTTHUMT00000097168.1	G	NM_016076		244852595	1	no_errors	ENST00000302550	ensembl	human	known	70_37	missense	SNP	1.000	A	A	244852595	G	A	244852595	3	1	147	1	0	0	0	0	1	0	0	0	12435	1291	45	1	170	1	PPPDE1	1	244852595	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8101871	244852595	4398026	127	23381										
OR2AK2	391191	genome.wustl.edu	37	chr1	248128661	248128661	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttcagatgtcatctcctttGatattttggtttcagccatg	7	8	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:248128661G>C	ENST00000366480.3	+	1	127	c.28G>C	c.(28-30)Gat>Cat	p.D10H	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			catctCCTTTGATATTTTGGT	0.328																																					Melanoma(45;390 1181 23848 28461 41504)												0													95	89	91					1																	248128661		2203	4300	6503	SO:0001583	missense	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.28G>C	1.37:g.248128661G>C	ENSP00000355436:p.Asp10His		B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D10H	ENST00000366480.3	37	c.28	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.306263	0.23736	.	.	ENSG00000187080	ENST00000366480	T	0.06294	3.32	2.48	-4.96	0.03038	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43278	-0.9401	9	0.45353	T	0.12	.	2.2667	0.04080	0.1247:0.1277:0.1939:0.5537	.	10	Q8NG84	O2AK2_HUMAN	H	10	ENSP00000355436:D10H	ENSP00000355436:D10H	D	+	1	0	OR2AK2	246195284	0.030000	0.19436	0.002000	0.10522	0.113000	0.19764	-0.436000	0.06922	-0.848000	0.04163	0.407000	0.27541	GAT	OR2AK2	-	NULL		0.328	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	G	NM_001004491		248128661	1	no_errors	ENST00000366480	ensembl	human	known	70_37	missense	SNP	0.000	C	C	248128661	G	C	248128661	3	2	147	1	0	0	0	0	1	0	0	0	11010	1290	45	1	30	1	OR2AK2	1	248128661	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3276066	248128661	1121960	128	23382										
OR2T33	391195	genome.wustl.edu	37	chr1	248437015	248437015	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaattgccaaacagggaggtCaaaacgatactcagaaccat	9	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:248437015C>G	ENST00000318021.2	-	1	123	c.102G>C	c.(100-102)ttG>ttC	p.L34F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAGGGAGGTCAAAACGATAC	0.493																																																	0													38	40	39					1																	248437015		2197	4296	6493	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.102G>C	1.37:g.248437015C>G	ENSP00000324687:p.Leu34Phe		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L34F	ENST00000318021.2	37	c.102	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	4.198	0.035478	0.08148	.	.	ENSG00000177212	ENST00000318021	T	0.17213	2.29	2.7	-5.39	0.02664	.	1.429120	0.05131	U	0.492658	T	0.11580	0.0282	L	0.47016	1.485	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31998	-0.9923	10	0.24483	T	0.36	.	1.3917	0.02252	0.3472:0.2553:0.2747:0.1228	.	34	Q8NG76	O2T33_HUMAN	F	34	ENSP00000324687:L34F	ENSP00000324687:L34F	L	-	3	2	OR2T33	246503638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.770000	0.01791	-1.235000	0.02545	-0.599000	0.04106	TTG	OR2T33	-	prints_GPCR_Rhodpsn		0.493	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	C	NM_001004695		248437015	-1	no_errors	ENST00000318021	ensembl	human	known	70_37	missense	SNP	0.000	G	G	248437015	C	G	248437015	3	3	147	1	0	0	0	0	1	0	0	0	11048	825	29	1	863	1	OR2T33	1	248437015	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	308354	248437015	813606	129	23383										
YWHAQ	10971	genome.wustl.edu	37	chr2	9728405	9728405	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgtgggttgcatctctttCttgcttatatcaaatgcctc	8	9	3	0	rs201487177		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:9728405C>G	ENST00000381844.4	-	3	634	c.471G>C	c.(469-471)aaG>aaC	p.K157N	YWHAQ_ENST00000238081.3_Missense_Mutation_p.K157N|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	157					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCATCTCTTTCTTGCTTATAT	0.403																																																	0													120	114	116					2																	9728405		2203	4300	6503	SO:0001583	missense	10971			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.471G>C	2.37:g.9728405C>G	ENSP00000371267:p.Lys157Asn		D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.K157N	ENST00000381844.4	37	c.471	CCDS1666.1	2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.44083	0.93;0.93	5.56	5.56	0.83823	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.58969	1.84	0.46317	D	0.998986	B	0.13145	0.007	B	0.24848	0.056	T	0.17684	-1.0361	10	0.33141	T	0.24	.	13.2044	0.59787	0.0:0.927:0.0:0.073	.	157	P27348	1433T_HUMAN	N	157;157;122	ENSP00000238081:K157N;ENSP00000371267:K157N	ENSP00000238081:K157N	K	-	3	2	YWHAQ	9645856	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.219000	0.51200	2.789000	0.95967	0.558000	0.71614	AAG	YWHAQ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.403	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	HGNC	protein_coding	OTTHUMT00000039014.4	C	NM_006826		9728405	-1	no_errors	ENST00000238081	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9728405	C	G	9728405	3	3	147	1	0	0	0	0	1	0	0	0	17536	912	32	1	278	1	YWHAQ	2	9728405	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09		9728405	233470968	130	23384										
GREB1	9687	genome.wustl.edu	37	chr2	11718523	11718523	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcgagcccgttcctgggacGaaccccagcatcctgatggg	13	14	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:11718523G>A	ENST00000381486.2	+	6	1038	c.738G>A	c.(736-738)acG>acA	p.T246T	GREB1_ENST00000381483.2_Silent_p.T246T|GREB1_ENST00000234142.5_Silent_p.T246T|GREB1_ENST00000263834.5_Silent_p.T246T|GREB1_ENST00000389825.3_Silent_p.T136T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	246						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCTGGGACGAACCCCAGCA	0.617																																					Ovarian(39;850 945 2785 23371 33093)												0													64	62	63					2																	11718523		2203	4300	6503	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.738G>A	2.37:g.11718523G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.T246	ENST00000381486.2	37	c.738	CCDS42655.1	2																																																																																			GREB1	-	NULL		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	G	NM_014668		11718523	1	no_errors	ENST00000234142	ensembl	human	known	70_37	silent	SNP	0.000	A	A	11718523	G	A	11718523	2	1	147	1	0	0	0	0	0	0	0	1	6780	1045	37	1		1	GREB1	2	11718523	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1990118	11718523	231480850	131	23385										
GEN1	348654	genome.wustl.edu	37	chr2	17962965	17962965	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagttctcaaaagcataattCatcccatttcaaagaaagtg	5	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:17962965C>T	ENST00000381254.2	+	14	2700	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.S829L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	829					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCATAATTCATCCCATTTC	0.383								Homologous recombination																																									0													67	67	67					2																	17962965		2203	4300	6503	SO:0001583	missense	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2486C>T	2.37:g.17962965C>T	ENSP00000370653:p.Ser829Leu		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.S829L	ENST00000381254.2	37	c.2486	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301275	0.23650	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.22134	1.97;1.97	5.02	2.91	0.33838	.	1.337690	0.05124	N	0.491185	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.49607	T	0.09	0.1837	7.677	0.28492	0.0:0.6119:0.0:0.3881	.	829	Q17RS7	GEN_HUMAN	L	829;829;466	ENSP00000318977:S829L;ENSP00000370653:S829L	ENSP00000318977:S829L	S	+	2	0	GEN1	17826446	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.256000	0.18351	0.446000	0.26666	0.655000	0.94253	TCA	GEN1	-	NULL		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	C	NM_182625		17962965	1	no_errors	ENST00000317402	ensembl	human	known	70_37	missense	SNP	0.001	T	T	17962965	C	T	17962965	3	4	147	1	0	0	0	0	1	0	0	0	6354	838	29	1	2536	1	GEN1	2	17962965	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6244442	17962965	225236408	132	23386										
APOB	338	genome.wustl.edu	37	chr2	21249674	21249674	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acacacctgctcatgtttatCatctttggtatagccaaagt	6	10	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:21249674C>T	ENST00000233242.1	-	15	2357	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	APOB_ENST00000399256.4_Missense_Mutation_p.D744N	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	744					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATGTTTATCATCTTTGGTA	0.393																																																	0													132	130	131					2																	21249674		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2230G>A	2.37:g.21249674C>T	ENSP00000233242:p.Asp744Asn		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D744N	ENST00000233242.1	37	c.2230	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548578	0.45383	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.16597	2.33;2.33	5.59	4.72	0.59763	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.532223	0.18137	N	0.150537	T	0.17789	0.0427	L	0.54323	1.7	0.09310	N	1	B	0.18461	0.028	B	0.19666	0.026	T	0.12553	-1.0543	10	0.31617	T	0.26	.	10.7139	0.46000	0.0:0.8549:0.0:0.1451	.	744	P04114	APOB_HUMAN	N	744	ENSP00000233242:D744N;ENSP00000382200:D744N	ENSP00000233242:D744N	D	-	1	0	APOB	21103179	0.582000	0.26749	0.024000	0.17045	0.356000	0.29392	2.433000	0.44793	1.517000	0.48917	0.650000	0.86243	GAT	APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21249674	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.008	T	T	21249674	C	T	21249674	3	4	147	1	0	0	0	0	1	0	0	0	785	826	29	1	11521	1	APOB	2	21249674	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3286709	21249674	221949699	133	23387										
NCOA1	8648	genome.wustl.edu	37	chr2	24930054	24930054	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcacagaattcacctagcaGattaaatatacaaccagcaa	4	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:24930054G>C	ENST00000406961.1	+	13	2367	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	NCOA1_ENST00000407230.1_Missense_Mutation_p.R421T|NCOA1_ENST00000395856.3_Missense_Mutation_p.R572T|NCOA1_ENST00000405141.1_Missense_Mutation_p.R572T|NCOA1_ENST00000348332.3_Missense_Mutation_p.R572T|NCOA1_ENST00000538539.1_Missense_Mutation_p.R572T|NCOA1_ENST00000288599.5_Missense_Mutation_p.R572T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	572	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCTAGCAGATTAAATATA	0.413			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													46	48	47					2																	24930054		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1715G>C	2.37:g.24930054G>C	ENSP00000385216:p.Arg572Thr		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.R572T	ENST00000406961.1	37	c.1715	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157808	0.57368	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01963	4.64;4.64;4.53;4.64;4.64;4.64;4.64	5.43	5.43	0.79202	.	0.160179	0.53938	D	0.000053	T	0.08403	0.0209	L	0.53249	1.67	0.48135	D	0.999598	D;D;D;P	0.67145	0.99;0.985;0.996;0.915	P;P;P;B	0.61874	0.852;0.728;0.895;0.438	T	0.50127	-0.8864	10	0.15952	T	0.53	.	19.0206	0.92912	0.0:0.0:1.0:0.0	.	572;572;572;421	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	T	572;572;421;572;572;572;572	ENSP00000385216:R572T;ENSP00000385097:R572T;ENSP00000385195:R421T;ENSP00000444039:R572T;ENSP00000320940:R572T;ENSP00000288599:R572T;ENSP00000379197:R572T	ENSP00000288599:R572T	R	+	2	0	NCOA1	24783558	0.995000	0.38212	1.000000	0.80357	0.789000	0.44602	4.394000	0.59671	2.824000	0.97209	0.655000	0.94253	AGA	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.413	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	G	NM_147223		24930054	1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	0.997	C	C	24930054	G	C	24930054	3	2	147	1	0	0	0	0	1	0	0	0	10252	942	33	1	1749	1	NCOA1	2	24930054	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3680380	24930054	218269319	134	23388										
DTNB	1838	genome.wustl.edu	37	chr2	25655804	25655804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggttctgctgtgccttctCaggggtgggctgggaggcct	19	9	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:25655804C>G	ENST00000406818.3	-	14	1657	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	DTNB_ENST00000404103.3_Missense_Mutation_p.E470Q|DTNB_ENST00000407186.1_Missense_Mutation_p.E440Q|DTNB_ENST00000288642.8_Missense_Mutation_p.E470Q|DTNB_ENST00000405222.1_Missense_Mutation_p.E440Q|DTNB_ENST00000407038.3_Missense_Mutation_p.E440Q|DTNB_ENST00000407661.3_Missense_Mutation_p.E470Q|DTNB_ENST00000496972.2_Missense_Mutation_p.E413Q|DTNB_ENST00000545439.1_Missense_Mutation_p.E266Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	470						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCTTCTCAGGGGTGGGC	0.587																																																	0													30	35	34					2																	25655804		2174	4287	6461	SO:0001583	missense	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1408G>C	2.37:g.25655804C>G	ENSP00000384084:p.Glu470Gln		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.E470Q	ENST00000406818.3	37	c.1408	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724077	0.89298	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.48522	2.14;2.11;2.12;2.12;2.13;2.13;2.11;2.12;0.81	5.8	5.8	0.92144	.	0.093931	0.64402	D	0.000001	T	0.58991	0.2161	L	0.50919	1.6	0.58432	D	0.999996	B;P;P;B;B;P;B;B;P;P;P;B;P	0.51537	0.103;0.91;0.946;0.182;0.114;0.91;0.111;0.343;0.914;0.946;0.946;0.053;0.91	B;P;P;B;B;P;B;B;P;P;P;B;P	0.58928	0.061;0.638;0.802;0.138;0.058;0.638;0.077;0.299;0.824;0.848;0.802;0.096;0.638	T	0.46938	-0.9155	10	0.15952	T	0.53	-16.1852	18.6269	0.91344	0.0:1.0:0.0:0.0	.	470;266;413;470;470;413;440;440;440;470;470;470;470	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	Q	413;470;470;470;440;440;440;470;266	ENSP00000444463:E413Q;ENSP00000384084:E470Q;ENSP00000385482:E470Q;ENSP00000385193:E470Q;ENSP00000384767:E440Q;ENSP00000384787:E440Q;ENSP00000385784:E440Q;ENSP00000288642:E470Q;ENSP00000444961:E266Q	ENSP00000288642:E470Q	E	-	1	0	DTNB	25509308	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	7.492000	0.81482	2.735000	0.93741	0.655000	0.94253	GAG	DTNB	-	pirsf_Distrobrevin		0.587	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	C	NM_033147		25655804	-1	no_errors	ENST00000406818	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25655804	C	G	25655804	3	3	147	1	0	0	0	0	1	0	0	0	4799	835	29	1	503	1	DTNB	2	25655804	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	725750	25655804	217543569	135	23389										
OTOF	9381	genome.wustl.edu	37	chr2	26702252	26702252	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagggcagatggaagtagttCctggggtgggcagaggcggg	21	5	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:26702252C>A	ENST00000272371.2	-	18	2220	c.2094G>T	c.(2092-2094)agG>agT	p.R698S	OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Splice_Site_p.R698S|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	698					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGTAGTTCCTGGGGTGGG	0.657																																					GBM(102;732 1451 20652 24062 31372)												0													27	29	29					2																	26702252		2202	4294	6496	SO:0001630	splice_region_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2094-1G>T	2.37:g.26702252C>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R698S	ENST00000272371.2	37	c.2094	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486980	0.63962	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80214	-1.35;-1.35	4.4	2.4	0.29515	.	0.088452	0.85682	D	0.000000	T	0.76456	0.3990	M	0.68952	2.095	0.48185	D	0.999603	P	0.48764	0.915	P	0.45071	0.468	T	0.69614	-0.5098	10	0.19147	T	0.46	.	8.2618	0.31790	0.0:0.7797:0.0:0.2203	.	698	Q9HC10	OTOF_HUMAN	S	698	ENSP00000272371:R698S;ENSP00000385255:R698S	ENSP00000272371:R698S	R	-	3	2	OTOF	26555756	0.996000	0.38824	0.984000	0.44739	0.980000	0.70556	0.493000	0.22451	0.233000	0.21120	0.555000	0.69702	AGG	OTOF	-	NULL		0.657	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	C		Missense_Mutation	26702252	-1	no_errors	ENST00000272371	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26702252	C	A	26702252	5	1	147	1	0	0	0	0	0	0	1	0	11327	869	30	3	4344	3	OTOF	2	26702252	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1046448	26702252	216497121	136	23390										
CAD	790	genome.wustl.edu	37	chr2	27457541	27457541	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctaatgactggttctggagtCgtgggagtaaaggtaaggaa	15	4	1	1	rs17855321		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:27457541C>T	ENST00000403525.1	+	22	3729	c.3585C>T	c.(3583-3585)gtC>gtT	p.V1195V	CAD_ENST00000264705.4_Silent_p.V1258V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTGGAGTCGTGGGAGTAA	0.512																																																	0													73	73	73					2																	27457541		2203	4300	6503	SO:0001819	synonymous_variant	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3585C>T	2.37:g.27457541C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.V1258	ENST00000403525.1	37	c.3774		2																																																																																			CAD	-	tigrfam_CarbamoylP_synth_lsu		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27457541	1	no_errors	ENST00000264705	ensembl	human	known	70_37	silent	SNP	0.598	T	T	27457541	C	T	27457541	2	4	147	1	0	0	0	0	0	0	0	1	2570	871	31	1		1	CAD	2	27457541	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	755289	27457541	215741832	137	23391										
GTF3C2	2976	genome.wustl.edu	37	chr2	27566306	27566306	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcactggtcatttctgaaGaggtcttgacatcaagctga	10	9	4	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:27566306G>C	ENST00000359541.2	-	2	545	c.116C>G	c.(115-117)tCt>tGt	p.S39C	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S39C|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	39					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTCTGAAGAGGTCTTGAC	0.547																																																	0													152	150	150					2																	27566306		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.116C>G	2.37:g.27566306G>C	ENSP00000352536:p.Ser39Cys		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S39C	ENST00000359541.2	37	c.116	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914562	0.17907	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.75050	-0.9;-0.9	5.04	4.14	0.48551	.	1.247040	0.05487	N	0.555870	T	0.64193	0.2576	N	0.19112	0.55	0.20764	N	0.99985	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.52019	-0.8631	10	0.44086	T	0.13	-2.5675	11.1639	0.48531	0.0:0.1858:0.8142:0.0	.	39;39;39	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	C	39	ENSP00000352536:S39C;ENSP00000264720:S39C	ENSP00000264720:S39C	S	-	2	0	GTF3C2	27419810	0.997000	0.39634	0.792000	0.32020	0.462000	0.32619	2.675000	0.46875	1.306000	0.44926	0.563000	0.77884	TCT	GTF3C2	-	NULL		0.547	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	G			27566306	-1	no_errors	ENST00000264720	ensembl	human	known	70_37	missense	SNP	0.603	C	C	27566306	G	C	27566306	3	2	147	1	0	0	0	0	1	0	0	0	6893	942	33	1	2691	1	GTF3C2	2	27566306	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	108765	27566306	215633067	138	23392										
BRE	9577	genome.wustl.edu	37	chr2	28117528	28117528	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggatgctacaaactgtttGaggataactgacttaaaatc	8	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:28117528G>C	ENST00000342045.2	+	3	246	c.105G>C	c.(103-105)ttG>ttC	p.L35F	BRE_ENST00000379624.1_Missense_Mutation_p.L35F|BRE_ENST00000603461.1_Intron|BRE_ENST00000361704.2_Missense_Mutation_p.L35F|BRE_ENST00000379632.2_Missense_Mutation_p.L35F|BRE_ENST00000344773.2_Missense_Mutation_p.L35F	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAACTGTTTGAGGATAACTG	0.443																																																	0													186	171	176					2																	28117528		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.105G>C	2.37:g.28117528G>C	ENSP00000339371:p.Leu35Phe			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.L35F	ENST00000342045.2	37	c.105	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768721	0.69878	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	5.03	0.67393	.	0.150630	0.44285	D	0.000466	T	0.68632	0.3022	L	0.50333	1.59	0.46356	D	0.999007	D;D;D;D	0.76494	0.997;0.999;0.998;0.96	D;D;P;D	0.78314	0.991;0.928;0.882;0.943	T	0.70673	-0.4807	9	0.66056	D	0.02	-7.1202	10.8586	0.46812	0.1507:0.0:0.8493:0.0	.	35;35;35;35	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	F	35	.	ENSP00000339371:L35F	L	+	3	2	BRE	27971032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.195000	0.42677	1.509000	0.48786	-0.136000	0.14681	TTG	BRE	-	pfam_Brain/reproduct-express_prot		0.443	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	G			28117528	1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28117528	G	C	28117528	3	2	147	1	0	0	0	0	1	0	0	0	1512	1281	45	1	107	1	BRE	2	28117528	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	551222	28117528	215081845	139	23393										
C2orf71	388939	genome.wustl.edu	37	chr2	29287839	29287839	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtggcccagcacacagaactCtgggggagatgcacgcctgg	15	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:29287839C>G	ENST00000331664.5	-	2	3762	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1255					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACACAGAACTCTGGGGGAGAT	0.672																																																	0													23	30	27					2																	29287839		1992	4135	6127	SO:0001583	missense	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3763G>C	2.37:g.29287839C>G	ENSP00000332809:p.Glu1255Gln			Missense_Mutation	SNP	NULL	p.E1255Q	ENST00000331664.5	37	c.3763	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152949	0.57259	.	.	ENSG00000179270	ENST00000331664	T	0.29397	1.57	5.06	5.06	0.68205	.	0.275128	0.31145	N	0.008162	T	0.52581	0.1743	L	0.59436	1.845	0.35099	D	0.765088	D	0.62365	0.991	D	0.71656	0.974	T	0.63079	-0.6717	10	0.66056	D	0.02	-16.8557	17.5968	0.88014	0.0:1.0:0.0:0.0	.	1255	A6NGG8	CB071_HUMAN	Q	1255	ENSP00000332809:E1255Q	ENSP00000332809:E1255Q	E	-	1	0	C2orf71	29141343	0.895000	0.30542	0.945000	0.38365	0.032000	0.12392	4.083000	0.57643	2.632000	0.89209	0.561000	0.74099	GAG	C2orf71	-	NULL		0.672	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	C	NM_001029883		29287839	-1	no_errors	ENST00000331664	ensembl	human	novel	70_37	missense	SNP	0.987	G	G	29287839	C	G	29287839	3	3	147	1	0	0	0	0	1	0	0	0	2196	922	32	1	107	1	C2orf71	2	29287839	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1170311	29287839	213911534	140	23394										
CAPN13	92291	genome.wustl.edu	37	chr2	30955386	30955386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgtcgctgtacctgagggtCaccagatgcagcagctcacg	12	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:30955386C>T	ENST00000295055.8	-	20	2021	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	CAPN13_ENST00000534090.2_Silent_p.V615V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	615					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACCTGAGGGTCACCAGATGCA	0.612																																																	0													28	32	30					2																	30955386		2085	4219	6304	SO:0001819	synonymous_variant	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1845G>A	2.37:g.30955386C>T			Q17RF0|Q580X1|Q8TE80	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.V615	ENST00000295055.8	37	c.1845	CCDS46252.1	2																																																																																			CAPN13	-	NULL		0.612	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	C	NM_144575		30955386	-1	no_errors	ENST00000295055	ensembl	human	known	70_37	silent	SNP	0.856	T	T	30955386	C	T	30955386	2	4	147	1	0	0	0	0	0	0	0	1	2631	813	29	1		1	CAPN13	2	30955386	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1667547	30955386	212243987	141	23395										
EHD3	30845	genome.wustl.edu	37	chr2	31489256	31489256	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctatggggagggggctggaGaaggtatcgatgatgctgag	20	4	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:31489256G>A	ENST00000322054.5	+	6	1579	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	432					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGGCTGGAGAAGGTATCGA	0.627																																																	0													79	71	74					2																	31489256		2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1294G>A	2.37:g.31489256G>A	ENSP00000327116:p.Glu432Lys		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.E432K	ENST00000322054.5	37	c.1294	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286282	0.59867	.	.	ENSG00000013016	ENST00000322054	T	0.17854	2.25	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	M	0.63843	1.955	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.04115	-1.0976	10	0.23891	T	0.37	-45.0889	20.1432	0.98067	0.0:0.0:1.0:0.0	.	432	Q9NZN3	EHD3_HUMAN	K	432	ENSP00000327116:E432K	ENSP00000327116:E432K	E	+	1	0	EHD3	31342760	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	9.749000	0.98871	2.769000	0.95229	0.561000	0.74099	GAA	EHD3	-	NULL		0.627	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	G	NM_014600		31489256	1	no_errors	ENST00000322054	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31489256	G	A	31489256	3	1	147	1	0	0	0	0	1	0	0	0	4989	943	33	1	1316	1	EHD3	2	31489256	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	533870	31489256	211710117	142	23396										
CEBPZ	10153	genome.wustl.edu	37	chr2	37458672	37458672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcctcggggcgccaaggccgCttggcatggaactccaaagg	14	13	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:37458672C>T	ENST00000234170.5	-	1	184	c.39G>A	c.(37-39)aaG>aaA	p.K13K	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	13					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GCCAAGGCCGCTTGGCATGGA	0.572																																																	0													51	57	55					2																	37458672		2203	4300	6503	SO:0001819	synonymous_variant	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.39G>A	2.37:g.37458672C>T			Q8NE75	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.K13	ENST00000234170.5	37	c.39	CCDS1787.1	2																																																																																			CEBPZ	-	NULL		0.572	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	C	NM_005760		37458672	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	silent	SNP	0.597	T	T	37458672	C	T	37458672	2	4	147	1	0	0	0	0	0	0	0	1	3209	796	28	4		4	CEBPZ	2	37458672	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5969416	37458672	205740701	143	23397										
PKDCC	91461	genome.wustl.edu	37	chr2	42275817	42275817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accgggtccgcctgcccggcGgtgccgcggtggcgctcaag	17	16	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:42275817G>A	ENST00000294964.5	+	1	658	c.478G>A	c.(478-480)Ggt>Agt	p.G160S		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						CCTGCCCGGCGGTGCCGCGGT	0.731																																																	0													5	7	7					2																	42275817		663	1561	2224	SO:0001583	missense	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.478G>A	2.37:g.42275817G>A	ENSP00000294964:p.Gly160Ser			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.G160S	ENST00000294964.5	37	c.478	CCDS33186.2	2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481672	0.44147	.	.	ENSG00000162878	ENST00000294964	.	.	.	3.15	3.15	0.36227	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.20007	0.0481	N	0.13299	0.325	0.33665	D	0.610252	P	0.42483	0.781	B	0.32864	0.154	T	0.26258	-1.0108	8	0.51188	T	0.08	-8.1429	6.3552	0.21397	0.1392:0.0:0.8608:0.0	.	160	Q504Y2	PKDCC_HUMAN	S	160	.	ENSP00000294964:G160S	G	+	1	0	PKDCC	42129321	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.561000	0.53770	1.778000	0.52293	0.289000	0.19496	GGT	PKDCC	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom		0.731	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	G			42275817	1	no_errors	ENST00000294964	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42275817	G	A	42275817	3	1	147	1	0	0	0	0	1	0	0	0	11993	1116	39	2	480	2	PKDCC	2	42275817	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4817145	42275817	200923556	144	23398										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452399	43452399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcgagtcaggctgcgcagctCgtggaagccatgcgcgaact	15	12	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:43452399C>T	ENST00000282388.3	-	2	837	c.544G>A	c.(544-546)Gag>Aag	p.E182K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	182	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGCGCAGCTCGTGGAAGCCA	0.617																																																	0													47	44	45					2																	43452399		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.544G>A	2.37:g.43452399C>T	ENSP00000282388:p.Glu182Lys		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.E182K	ENST00000282388.3	37	c.544	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320806	0.81469	.	.	ENSG00000152518	ENST00000282388	T	0.61274	0.12	4.44	3.56	0.40772	.	0.140956	0.45606	N	0.000342	T	0.55016	0.1894	M	0.87038	2.855	0.80722	D	1	P	0.42871	0.792	B	0.27500	0.08	T	0.64162	-0.6472	10	0.87932	D	0	-21.1341	11.3501	0.49583	0.0:0.9085:0.0:0.0915	.	182	P47974	TISD_HUMAN	K	182	ENSP00000282388:E182K	ENSP00000282388:E182K	E	-	1	0	ZFP36L2	43305903	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.321000	0.79088	0.865000	0.35603	-0.266000	0.10368	GAG	ZFP36L2	-	NULL		0.617	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452399	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43452399	C	T	43452399	3	4	147	1	0	0	0	0	1	0	0	0	17677	893	31	1	944	1	ZFP36L2	2	43452399	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1176582	43452399	199746974	145	23399										
THADA	63892	genome.wustl.edu	37	chr2	43768398	43768398	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagcaacttccttcatacttCtccaacaacataccagcacc	2	16	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:43768398C>T	ENST00000405006.4	-	21	3515	c.3164G>A	c.(3163-3165)aGa>aAa	p.R1055K	THADA_ENST00000415080.2_Missense_Mutation_p.R765K|THADA_ENST00000330266.7_Missense_Mutation_p.R765K|THADA_ENST00000405975.2_Missense_Mutation_p.R1055K	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1055										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTCATACTTCTCCAACAACA	0.418																																																	0													231	231	231					2																	43768398		2017	4191	6208	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3164G>A	2.37:g.43768398C>T	ENSP00000385995:p.Arg1055Lys		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.R1055K	ENST00000405006.4	37	c.3164	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.509160|4.509160	0.85282|0.85282	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.55760	.|0.5;0.5;0.5;0.5	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75635|0.75635	0.3876|0.3876	M|M	0.81942|0.81942	2.565|2.565	0.45502|0.45502	D|D	0.998462|0.998462	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.994;0.997;0.994	T|T	0.75852|0.75852	-0.3171|-0.3171	5|10	.|0.49607	.|T	.|0.09	.|.	19.7706|19.7706	0.96363|0.96363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|765;1056;765;1055	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	K|K	369|765;1055;1056;765;1055	.|ENSP00000331105:R765K;ENSP00000386088:R1055K;ENSP00000416048:R765K;ENSP00000385995:R1055K	.|ENSP00000331105:R765K	E|R	-|-	1|2	0|0	THADA|THADA	43621902|43621902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.540000|4.540000	0.60664|0.60664	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	GAA|AGA	THADA	-	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43768398	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43768398	C	T	43768398	3	4	147	1	0	0	0	0	1	0	0	0	15870	913	32	1	2769	1	THADA	2	43768398	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	315999	43768398	199430975	146	23400										
ABCG8	64241	genome.wustl.edu	37	chr2	44104794	44104794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaacttataaaatgcctctCgggaacctcaccatcgcggt	8	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:44104794C>T	ENST00000272286.2	+	12	1941	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	617	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAATGCCTCTCGGGAACCTCA	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96	99	98					2																	44104794		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1851C>T	2.37:g.44104794C>T		921	Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.L617	ENST00000272286.2	37	c.1851	CCDS1815.1	2																																																																																			ABCG8	-	NULL		0.517	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44104794	1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	0.003	T	T	44104794	C	T	44104794	2	4	147	1	0	0	0	0	0	0	0	1	72	871	31	1		1	ABCG8	2	44104794	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	336396	44104794	199094579	147	23401										
PSME4	23198	genome.wustl.edu	37	chr2	54127099	54127099	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taagcaatatctggttgataGaggggttttttgactgttga	12	3	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:54127099G>C	ENST00000404125.1	-	29	3396	c.3341C>G	c.(3340-3342)tCt>tGt	p.S1114C	PSME4_ENST00000421748.2_Missense_Mutation_p.S258C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.S1114Y(1)|p.S1000Y(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTGGTTGATAGAGGGGTTTTT	0.358																																																	2	Substitution - Missense(2)	lung(2)											180	179	179					2																	54127099		2203	4300	6503	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3341C>G	2.37:g.54127099G>C	ENSP00000384211:p.Ser1114Cys		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.S1114C	ENST00000404125.1	37	c.3341	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939889	0.34189	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.25414	1.83;1.8	5.63	5.63	0.86233	Armadillo-type fold (1);	0.374712	0.30547	N	0.009385	T	0.14184	0.0343	N	0.08118	0	0.30433	N	0.777006	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.05321	-1.0892	10	0.51188	T	0.08	.	11.5311	0.50610	0.0:0.1329:0.7297:0.1374	.	489;258;1114	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	C	258;1114	ENSP00000410830:S258C;ENSP00000384211:S1114C	ENSP00000384211:S1114C	S	-	2	0	PSME4	53980603	0.981000	0.34729	0.992000	0.48379	0.938000	0.57974	3.018000	0.49625	2.669000	0.90835	0.655000	0.94253	TCT	PSME4	-	superfamily_ARM-type_fold		0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	G	XM_040158		54127099	-1	no_errors	ENST00000404125	ensembl	human	known	70_37	missense	SNP	0.427	C	C	54127099	G	C	54127099	3	2	147	1	0	0	0	0	1	0	0	0	12736	942	33	1	2262	1	PSME4	2	54127099	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	10022305	54127099	189072274	148	23402										
RTN4	57142	genome.wustl.edu	37	chr2	55254364	55254364	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtattctaattctgaaaactCtgttaaatctctatctatga	4	7	5	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:55254364C>T	ENST00000337526.6	-	3	1114	c.871G>A	c.(871-873)Gag>Aag	p.E291K	RTN4_ENST00000394611.2_Missense_Mutation_p.E85K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E85K|RTN4_ENST00000354474.6_Splice_Site|RTN4_ENST00000405240.1_Missense_Mutation_p.E85K|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E85K|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	291					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCTGAAAACTCTGTTAAATCT	0.373																																																	0													74	74	74					2																	55254364		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.871G>A	2.37:g.55254364C>T	ENSP00000337838:p.Glu291Lys		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Splice_Site	SNP	-	e2-1	ENST00000337526.6	37	c.176-1	CCDS42684.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.18|11.18	1.563885|1.563885	0.27915|0.27915	.|.	.|.	ENSG00000115310|ENSG00000115310	ENST00000354474|ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	.|T;T;T;T;T	.|0.22945	.|1.93;1.93;2.31;1.93;1.93	6.02|6.02	4.2|4.2	0.49525|0.49525	.|.	.|0.393777	.|0.25178	.|N	.|0.032549	.|T	.|0.25306	.|0.0615	M|M	0.62723|0.62723	1.935|1.935	0.53005|0.53005	D|D	0.999966|0.999966	.|P	.|0.38922	.|0.651	.|B	.|0.32677	.|0.15	.|T	.|0.04281	.|-1.0963	.|10	.|0.72032	.|D	.|0.01	.|-1.7523	11.8357|11.8357	0.52323|0.52323	0.0:0.8104:0.1237:0.0659|0.0:0.8104:0.1237:0.0659	.|.	.|291	.|Q9NQC3	.|RTN4_HUMAN	.|K	-1|85;85;291;85;85;85	.|ENSP00000384471:E85K;ENSP00000349944:E85K;ENSP00000337838:E291K;ENSP00000378109:E85K;ENSP00000385650:E85K	.|ENSP00000337838:E291K	.|E	-|-	.|1	.|0	RTN4|RTN4	55107868|55107868	0.714000|0.714000	0.27936|0.27936	0.311000|0.311000	0.25182|0.25182	0.702000|0.702000	0.40608|0.40608	2.851000|2.851000	0.48302|0.48302	0.836000|0.836000	0.34901|0.34901	0.650000|0.650000	0.86243|0.86243	.|GAG	RTN4	-	-		0.373	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	C			55254364	-1	no_errors	ENST00000354474	ensembl	human	known	70_37	splice_site	SNP	0.288	T	T	55254364	C	T	55254364	3	4	147	1	0	0	0	0	1	0	0	0	13758	922	32	1	2773	1	RTN4	2	55254364	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1127265	55254364	187945009	149	23403										
USP34	9736	genome.wustl.edu	37	chr2	61520659	61520659	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaattaaaaatttctaataaCtgttgaagccctccagcagc	6	9	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:61520659C>G	ENST00000398571.2	-	33	4564	c.4488G>C	c.(4486-4488)caG>caC	p.Q1496H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1496					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTCTAATAACTGTTGAAGCC	0.343																																																	0													84	76	79					2																	61520659		1816	4074	5890	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4488G>C	2.37:g.61520659C>G	ENSP00000381577:p.Gln1496His		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.Q1496H	ENST00000398571.2	37	c.4488	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	3.992	-0.004294	0.07773	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.02737	4.18	5.6	2.39	0.29439	.	0.062575	0.64402	D	0.000004	T	0.01189	0.0039	N	0.02708	-0.52	0.36022	D	0.838828	P	0.50943	0.94	B	0.38562	0.276	T	0.66131	-0.6000	10	0.17369	T	0.5	.	9.2575	0.37593	0.0:0.6153:0.0:0.3847	.	1496	Q70CQ2	UBP34_HUMAN	H	1344;1344;1496	ENSP00000381577:Q1496H	ENSP00000263989:Q1344H	Q	-	3	2	USP34	61374163	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	0.463000	0.21972	0.723000	0.32274	0.650000	0.86243	CAG	USP34	-	superfamily_ARM-type_fold		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61520659	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	0.996	G	G	61520659	C	G	61520659	3	3	147	1	0	0	0	0	1	0	0	0	17096	564	20	4	6344	4	USP34	2	61520659	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6266295	61520659	181678714	150	23404										
ACTR2	10097	genome.wustl.edu	37	chr2	65473825	65473825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaaattgtaaaatcttactCacagaacctcctatgaaccc	4	11	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:65473825C>T	ENST00000260641.5	+	3	484	c.327C>T	c.(325-327)ctC>ctT	p.L109L	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Silent_p.L114L|ACTR2_ENST00000542850.1_Silent_p.L54L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	109					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AAATCTTACTCACAGAACCTC	0.358																																																	0													108	120	116					2																	65473825		2203	4300	6503	SO:0001819	synonymous_variant	10097			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.327C>T	2.37:g.65473825C>T			B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L114	ENST00000260641.5	37	c.342	CCDS1881.1	2																																																																																			ACTR2	-	pfam_Actin-like,smart_Actin-like		0.358	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	C	NM_001005386		65473825	1	no_errors	ENST00000377982	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65473825	C	T	65473825	2	4	147	1	0	0	0	0	0	0	0	1	211	813	29	1		1	ACTR2	2	65473825	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3953166	65473825	177725548	151	23405										
ACTG2	72	genome.wustl.edu	37	chr2	74129532	74129532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagacagctatgtgggggatGaggctcagagcaagcgaggg	18	6	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:74129532G>A	ENST00000409624.1	+	4	815	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Missense_Mutation_p.E58K|ACTG2_ENST00000409918.1_Missense_Mutation_p.E58K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	58					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TGTGGGGGATGAGGCTCAGAG	0.502																																																	0													155	134	141					2																	74129532		2203	4300	6503	SO:0001583	missense	72				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.172G>A	2.37:g.74129532G>A	ENSP00000386857:p.Glu58Lys		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E58K	ENST00000409624.1	37	c.172	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855224	0.32791	.	.	ENSG00000163017	ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D	0.97850	-4.57;-2.87;-2.87;-4.57	3.84	2.96	0.34315	Actin, conserved site (1);	0.138695	0.46145	D	0.000306	D	0.98541	0.9513	M	0.85041	2.73	0.39903	D	0.973926	P;P	0.41008	0.735;0.695	P;D	0.65323	0.519;0.934	D	0.99897	1.1151	10	0.87932	D	0	.	10.8585	0.46812	0.0964:0.0:0.9036:0.0	.	58;58	B8ZZJ2;P63267	.;ACTH_HUMAN	K	58	ENSP00000295137:E58K;ENSP00000387182:E58K;ENSP00000410020:E58K;ENSP00000386857:E58K	ENSP00000295137:E58K	E	+	1	0	ACTG2	73983040	1.000000	0.71417	0.963000	0.40424	0.133000	0.20885	7.748000	0.85085	0.972000	0.38314	-0.222000	0.12452	GAG	ACTG2	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.502	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	G	NM_001615		74129532	1	no_errors	ENST00000345517	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74129532	G	A	74129532	3	1	147	1	0	0	0	0	1	0	0	0	197	1291	45	1	178	1	ACTG2	2	74129532	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8655707	74129532	169069841	152	23406										
PCGF1	84759	genome.wustl.edu	37	chr2	74732735	74732735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctccggagatggcgtacctCagctctaacagaacatcgga	10	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:74732735C>T	ENST00000233630.6	-	7	1506	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LBX2_ENST00000460508.3_5'Flank|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	199	Required for repressor activity.|Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TGGCGTACCTCAGCTCTAACA	0.557																																																	0													103	101	102					2																	74732735		2203	4300	6503	SO:0001583	missense	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.595G>A	2.37:g.74732735C>T	ENSP00000233630:p.Glu199Lys		Q7Z506	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E199K	ENST00000233630.6	37	c.595	CCDS1946.2	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017353	0.75161	.	.	ENSG00000115289	ENST00000233630	T	0.39056	1.1	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.44542	1.39	0.48975	D	0.999739	P	0.36577	0.558	B	0.33521	0.165	T	0.34079	-0.9843	10	0.66056	D	0.02	-13.3854	12.4947	0.55921	0.0:1.0:0.0:0.0	.	199	Q9BSM1	PCGF1_HUMAN	K	199	ENSP00000233630:E199K	ENSP00000233630:E199K	E	-	1	0	PCGF1	74586243	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.608000	0.61141	2.287000	0.76781	0.655000	0.94253	GAG	PCGF1	-	NULL		0.557	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF1	HGNC	protein_coding	OTTHUMT00000252216.1	C	NM_032673		74732735	-1	no_errors	ENST00000233630	ensembl	human	known	70_37	missense	SNP	0.998	T	T	74732735	C	T	74732735	3	4	147	1	0	0	0	0	1	0	0	0	11598	835	29	1	196	1	PCGF1	2	74732735	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	603203	74732735	168466638	153	23407										
CD8A	925	genome.wustl.edu	37	chr2	87016516	87016516	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcccggccaagggcgcccaGatgtagatatcacaggcgaa	13	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:87016516G>A	ENST00000409511.2	-	7	1585	c.555C>T	c.(553-555)atC>atT	p.I185I	CD8A_ENST00000538832.1_Silent_p.I226I|CD8A_ENST00000283635.3_Silent_p.I185I|CD8A_ENST00000352580.3_Intron|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000409781.1_Silent_p.I148I	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	185					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGGGCGCCCAGATGTAGATAT	0.607																																																	0													82	85	84					2																	87016516		2203	4300	6503	SO:0001819	synonymous_variant	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.555C>T	2.37:g.87016516G>A			B4DT80|D6W5M8|Q13970|Q4ZG17	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I226	ENST00000409511.2	37	c.678	CCDS1992.1	2																																																																																			CD8A	-	NULL		0.607	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	G	NM_001768		87016516	-1	no_errors	ENST00000538832	ensembl	human	known	70_37	silent	SNP	1.000	A	A	87016516	G	A	87016516	2	1	147	1	0	0	0	0	0	0	0	1	3049	932	33	1		1	CD8A	2	87016516	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12283781	87016516	156182857	154	23408										
THNSL2	55258	genome.wustl.edu	37	chr2	88484895	88484895	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtcggatgaagccatcaccCagaccatgggccgctgctgg	13	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:88484895C>G	ENST00000324166.5	+	7	2817	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	THNSL2_ENST00000358591.2_Missense_Mutation_p.Q376E|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	376					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCATCACCCAGACCATGGG	0.582																																																	0													40	46	44					2																	88484895		2192	4300	6492	SO:0001583	missense	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1126C>G	2.37:g.88484895C>G	ENSP00000327323:p.Gln376Glu		B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.Q376E	ENST00000324166.5	37	c.1126	CCDS2002.2	2	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042124	0.01997	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.95756	-3.8;-3.8	5.81	0.673	0.17941	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.723855	0.13592	N	0.376496	D	0.83124	0.5186	N	0.04275	-0.24	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.71787	-0.4487	10	0.02654	T	1	.	5.0708	0.14606	0.3212:0.3035:0.3126:0.0627	.	376	Q86YJ6	THNS2_HUMAN	E	376	ENSP00000351402:Q376E;ENSP00000327323:Q376E	ENSP00000327323:Q376E	Q	+	1	0	THNSL2	88266010	0.462000	0.25791	0.355000	0.25773	0.424000	0.31475	1.151000	0.31651	-0.158000	0.11040	-0.182000	0.12963	CAG	THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like		0.582	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	C	NM_018271		88484895	1	no_errors	ENST00000324166	ensembl	human	known	70_37	missense	SNP	0.025	G	G	88484895	C	G	88484895	3	3	147	1	0	0	0	0	1	0	0	0	15893	595	21	4	1152	4	THNSL2	2	88484895	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1468379	88484895	154714478	155	23409										
PROM2	150696	genome.wustl.edu	37	chr2	95940418	95940418	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agctggctgcaggggccacaGactgcaagttccttggcccg	14	13	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:95940418G>C	ENST00000317620.9	+	1	218	c.85G>C	c.(85-87)Gac>Cac	p.D29H	PROM2_ENST00000403131.2_Missense_Mutation_p.D29H|PROM2_ENST00000542147.1_Missense_Mutation_p.D29H|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.D29H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	29					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGGCCACAGACTGCAAGTT	0.672																																																	0													40	48	45					2																	95940418		2203	4299	6502	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.85G>C	2.37:g.95940418G>C	ENSP00000318270:p.Asp29His		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.D29H	ENST00000317620.9	37	c.85	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749295	0.30955	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.12	4.14	0.48551	.	0.266322	0.26923	N	0.021818	T	0.46580	0.1400	N	0.22421	0.69	0.22366	N	0.999163	D	0.56968	0.978	P	0.59221	0.854	T	0.27123	-1.0083	10	0.29301	T	0.29	-23.8185	11.5426	0.50675	0.0:0.0:0.8091:0.1909	.	29	Q8N271	PROM2_HUMAN	H	29	ENSP00000385716:D29H;ENSP00000318520:D29H;ENSP00000318270:D29H;ENSP00000442542:D29H	ENSP00000318270:D29H	D	+	1	0	PROM2	95304145	0.710000	0.27896	0.681000	0.30009	0.018000	0.09664	2.611000	0.46334	2.405000	0.81733	0.491000	0.48974	GAC	PROM2	-	pfam_Prominin		0.672	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	G	NM_144707		95940418	1	no_errors	ENST00000317620	ensembl	human	known	70_37	missense	SNP	0.416	C	C	95940418	G	C	95940418	3	2	147	1	0	0	0	0	1	0	0	0	12583	942	33	1	87	1	PROM2	2	95940418	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7455523	95940418	147258955	156	23410										
NCAPH	23397	genome.wustl.edu	37	chr2	97019969	97019969	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaagaatgaccaggtatttGacatcaatgctgaagttgac	10	6	1	6			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:97019969G>C	ENST00000240423.4	+	9	1094	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	NCAPH_ENST00000455200.1_Missense_Mutation_p.D340H|NCAPH_ENST00000427946.1_Missense_Mutation_p.D215H	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	351					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGTATTTGACATCAATGC	0.493																																																	0													175	173	174					2																	97019969		2203	4300	6503	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1051G>C	2.37:g.97019969G>C	ENSP00000240423:p.Asp351His		B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.D351H	ENST00000240423.4	37	c.1051	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051648	0.75960	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.82655	-0.0350	10	0.66056	D	0.02	-26.7825	16.6203	0.84928	0.0:0.0:1.0:0.0	.	327;340;340;351	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	H	351;215;340;340	ENSP00000240423:D351H;ENSP00000400774:D215H;ENSP00000405237:D340H;ENSP00000407308:D340H	ENSP00000240423:D351H	D	+	1	0	NCAPH	96383696	1.000000	0.71417	0.547000	0.28179	0.815000	0.46073	5.641000	0.67881	2.534000	0.85438	0.561000	0.74099	GAC	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2		0.493	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	G	NM_015341		97019969	1	no_errors	ENST00000240423	ensembl	human	known	70_37	missense	SNP	1.000	C	C	97019969	G	C	97019969	3	2	147	1	0	0	0	0	1	0	0	0	10233	1290	45	1	1085	1	NCAPH	2	97019969	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1079551	97019969	146179404	157	23411										
VWA3B	200403	genome.wustl.edu	37	chr2	98834374	98834374	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctatttataccatctccttCaattacaatgatgagattgc	4	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:98834374C>G	ENST00000477737.1	+	14	2106	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	634	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATCTCCTTCAATTACAATG	0.408																																																	0													110	101	104					2																	98834374		1834	4091	5925	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1902C>G	2.37:g.98834374C>G	ENSP00000417955:p.Phe634Leu		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.F634L	ENST00000477737.1	37	c.1902	CCDS42718.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.611|9.611	1.131245|1.131245	0.21041|0.21041	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.19669|.	2.13|.	5.77|5.77	4.9|4.9	0.64082|0.64082	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	D;P;P;D|.	0.89917|.	1.0;0.901;0.905;1.0|.	D;P;P;D|.	0.85130|.	0.997;0.583;0.624;0.997|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.62326|.	D|.	0.03|.	.|.	8.9112|8.9112	0.35555|0.35555	0.0:0.8327:0.0:0.1673|0.0:0.8327:0.0:0.1673	.|.	26;634;634;634|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	L|E	634|45	ENSP00000417955:F634L|.	ENSP00000417955:F634L|.	F|Q	+|+	3|1	2|0	VWA3B|VWA3B	98200806|98200806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.494000|0.494000	0.33585|0.33585	1.818000|1.818000	0.39012|0.39012	1.449000|1.449000	0.47699|0.47699	-0.136000|-0.136000	0.14681|0.14681	TTC|CAA	VWA3B	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.408	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	C	NM_144992		98834374	1	no_errors	ENST00000477737	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98834374	C	G	98834374	3	3	147	1	0	0	0	0	1	0	0	0	17272	825	29	1	1952	1	VWA3B	2	98834374	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1814405	98834374	144364999	158	23412										
INPP4A	3631	genome.wustl.edu	37	chr2	99162457	99162457	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcgtttaaagcaagcagtttGaaagcagataaaaagttaga	9	4	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:99162457G>C	ENST00000523221.1	+	10	975	c.975G>C	c.(973-975)ttG>ttC	p.L325F	INPP4A_ENST00000074304.5_Missense_Mutation_p.L325F|INPP4A_ENST00000409851.3_Missense_Mutation_p.L325F|INPP4A_ENST00000545415.1_Missense_Mutation_p.L325F|INPP4A_ENST00000409016.4_Missense_Mutation_p.L325F|INPP4A_ENST00000409540.3_Missense_Mutation_p.L325F|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	325					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAAGCAGTTTGAAAGCAGATA	0.408																																																	0													79	73	75					2																	99162457		1866	4111	5977	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.975G>C	2.37:g.99162457G>C	ENSP00000427722:p.Leu325Phe		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L325F	ENST00000523221.1	37	c.975	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858659	0.71834	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.44	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.48019	-0.9071	10	0.52906	T	0.07	-15.1054	9.6021	0.39609	0.1564:0.0:0.8436:0.0	.	325;325;325;325	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	F	325	ENSP00000386704:L325F;ENSP00000386777:L325F;ENSP00000074304:L325F;ENSP00000442149:L325F;ENSP00000387294:L325F;ENSP00000427722:L325F	ENSP00000074304:L325F	L	+	3	2	INPP4A	98528889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.454000	0.60068	1.544000	0.49359	0.655000	0.94253	TTG	INPP4A	-	NULL		0.408	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	G	NM_001566		99162457	1	no_errors	ENST00000074304	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99162457	G	C	99162457	3	2	147	1	0	0	0	0	1	0	0	0	7772	1281	45	1	1013	1	INPP4A	2	99162457	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	328083	99162457	144036916	159	23413										
TSGA10	80705	genome.wustl.edu	37	chr2	99721839	99721839	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacattatgaactgtacactCcagctcctctatcctttgtt	4	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:99721839C>G	ENST00000393483.3	-	9	1286	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	TSGA10_ENST00000410001.1_Missense_Mutation_p.E148Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.E148Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.E148Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E148Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	148					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACTGTACACTCCAGCTCCTCT	0.333																																																	0													55	58	57					2																	99721839		2202	4300	6502	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.442G>C	2.37:g.99721839C>G	ENSP00000377123:p.Glu148Gln		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.E148Q	ENST00000393483.3	37	c.442	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	11.12	1.543868	0.27563	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.98	4.98	0.66077	.	0.072834	0.53938	D	0.000044	T	0.26593	0.0650	N	0.12502	0.225	0.33284	D	0.562671	B;B	0.32573	0.376;0.202	B;B	0.28784	0.094;0.094	T	0.33343	-0.9872	10	0.15952	T	0.53	-14.2758	12.866	0.57939	0.0:0.8361:0.1639:0.0	.	148;148	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	148	ENSP00000377123:E148Q;ENSP00000386956:E148Q;ENSP00000347161:E148Q;ENSP00000444419:E148Q;ENSP00000386508:E148Q;ENSP00000377122:E148Q;ENSP00000445623:E148Q	ENSP00000347161:E148Q	E	-	1	0	TSGA10	99088271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.457000	0.45005	2.593000	0.87608	0.650000	0.86243	GAG	TSGA10	-	NULL		0.333	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	C	NM_182911		99721839	-1	no_errors	ENST00000355053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99721839	C	G	99721839	3	3	147	1	0	0	0	0	1	0	0	0	16648	864	30	1	1706	1	TSGA10	2	99721839	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	559382	99721839	143477534	160	23414										
C2orf15	80705	genome.wustl.edu	37	chr2	99767059	99767059	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taaatctgctactcaggtatCtgctatacatatggattcaa	6	8	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:99767059C>G	ENST00000393483.3	-	1	225				C2ORF15_ENST00000302513.2_Missense_Mutation_p.S47C|C2ORF15_ENST00000409684.1_Missense_Mutation_p.S47C	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACTCAGGTATCTGCTATACAT	0.368																																																	0													63	64	64					2																	99767059		2203	4300	6503	SO:0001627	intron_variant	150590			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+4096G>C	2.37:g.99767059C>G			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.S47C	ENST00000393483.3	37	c.140	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425173	0.25639	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.51143	0.1657	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.60203	-0.7309	8	0.72032	D	0.01	-1.4026	13.7268	0.62763	0.0:1.0:0.0:0.0	.	47	Q8WU43	CB015_HUMAN	C	47	.	ENSP00000302202:S47C	S	+	2	0	C2orf15	99133491	0.251000	0.23961	0.770000	0.31555	0.372000	0.29890	1.992000	0.40737	2.605000	0.88082	0.462000	0.41574	TCT	C2orf15	-	NULL		0.368	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf15	HGNC	protein_coding	OTTHUMT00000253125.1	C	NM_182911		99767059	1	no_errors	ENST00000302513	ensembl	human	known	70_37	missense	SNP	0.796	G	G	99767059	C	G	99767059	1	3	147	0	1	0	0	0	0	0	0	0	2161	913	32	1		1	C2orf15	2	99767059	Intron	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	45220	99767059	143432314	161	23415										
CREG2	200407	genome.wustl.edu	37	chr2	102000165	102000165	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaaatggcagtccttggatCtaacaaacaccaaaaaaggc	7	11	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:102000165C>G	ENST00000324768.5	-	2	579		c.e2-1		CREG2_ENST00000495455.1_Splice_Site	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2							endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTCCTTGGATCTAACAAACAC	0.507																																																	0													93	94	94					2																	102000165		2203	4300	6503	SO:0001630	splice_region_variant	200407			AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.442-1G>C	2.37:g.102000165C>G			Q86X03|Q8N540|Q8N9E3	Splice_Site	SNP	-	e2-1	ENST00000324768.5	37	c.442-1	CCDS2052.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390857	0.82902	.	.	ENSG00000175874	ENST00000324768	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREG2	101366597	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.177000	0.58276	2.808000	0.96608	0.655000	0.94253	.	CREG2	-	-		0.507	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREG2	HGNC	protein_coding	OTTHUMT00000253188.2	C	NM_153836	Intron	102000165	-1	no_errors	ENST00000324768	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	102000165	C	G	102000165	5	3	147	1	0	0	0	0	0	0	1	0	3870	927	32	1	443	1	CREG2	2	102000165	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2233106	102000165	141199208	162	23416										
UXS1	80146	genome.wustl.edu	37	chr2	106710565	106710565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atttgcctggtactcgagttCtttacggaagtagtgaattg	11	6	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:106710565C>T	ENST00000409501.3	-	15	1237	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	UXS1_ENST00000540130.1_Missense_Mutation_p.E337K|UXS1_ENST00000409032.1_Missense_Mutation_p.E226K|UXS1_ENST00000283148.7_Missense_Mutation_p.E399K			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	394					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TACTCGAGTTCTTTACGGAAG	0.463																																																	0													258	243	248					2																	106710565		1951	4137	6088	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1180G>A	2.37:g.106710565C>T	ENSP00000387019:p.Glu394Lys		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.E399K	ENST00000409501.3	37	c.1195	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688578	0.68271	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	L	0.50847	1.595	0.80722	D	1	B;B;B	0.30361	0.277;0.182;0.182	B;B;B	0.35182	0.197;0.097;0.097	T	0.56318	-0.7999	10	0.24483	T	0.36	-8.009	19.7704	0.96361	0.0:1.0:0.0:0.0	.	399;394;399	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	K	399;337;394;226	ENSP00000283148:E399K;ENSP00000438265:E337K;ENSP00000387019:E394K;ENSP00000387096:E226K	ENSP00000283148:E399K	E	-	1	0	UXS1	106076997	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.329000	0.79170	2.670000	0.90874	0.563000	0.77884	GAA	UXS1	-	NULL		0.463	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	C	NM_025076.3		106710565	-1	no_errors	ENST00000283148	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106710565	C	T	106710565	3	4	147	1	0	0	0	0	1	0	0	0	17140	922	32	1	86	1	UXS1	2	106710565	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4710400	106710565	136488808	163	23417										
POLR1B	84172	genome.wustl.edu	37	chr2	113306970	113306970	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagagggcctggttatactCagtatggtaagttctggaga	13	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:113306970C>G	ENST00000263331.5	+	4	1199	c.619C>G	c.(619-621)Cag>Gag	p.Q207E	POLR1B_ENST00000417433.2_Missense_Mutation_p.Q151E|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.Q207E|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q245E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	207					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGTTATACTCAGTATGGTAA	0.318																																					Ovarian(16;256 576 9537 23969 41147)												0													35	36	36					2																	113306970		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.619C>G	2.37:g.113306970C>G	ENSP00000263331:p.Gln207Glu		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.Q245E	ENST00000263331.5	37	c.733	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831990	0.16820	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.48	5.48	0.80851	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.216462	0.49916	D	0.000140	T	0.51618	0.1685	N	0.05534	-0.03	0.80722	D	1	B;B;B;B	0.16802	0.0;0.019;0.0;0.0	B;B;B;B	0.18263	0.002;0.021;0.001;0.003	T	0.51694	-0.8673	10	0.02654	T	1	-12.3862	14.4299	0.67243	0.0:0.8517:0.1483:0.0	.	245;207;151;207	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	E	207;245;207;151	ENSP00000263331:Q207E;ENSP00000444136:Q245E;ENSP00000387143:Q207E;ENSP00000405358:Q151E	ENSP00000263331:Q207E	Q	+	1	0	POLR1B	113023441	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.126000	0.42026	2.576000	0.86940	0.655000	0.94253	CAG	POLR1B	-	pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2		0.318	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	C	NM_019014		113306970	1	no_errors	ENST00000541869	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113306970	C	G	113306970	3	3	147	1	0	0	0	0	1	0	0	0	12234	827	29	1	633	1	POLR1B	2	113306970	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6596405	113306970	129892403	164	23418										
UGGT1	56886	genome.wustl.edu	37	chr2	128917157	128917157	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agataagctatgagaacactCagatctccagagcaatctgg	9	9	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:128917157C>G	ENST00000259253.6	+	23	2472	c.2425C>G	c.(2425-2427)Cag>Gag	p.Q809E	UGGT1_ENST00000375990.3_Missense_Mutation_p.Q785E	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	809					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGAGAACACTCAGATCTCCAG	0.453																																																	0													94	95	95					2																	128917157		2203	4300	6503	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2425C>G	2.37:g.128917157C>G	ENSP00000259253:p.Gln809Glu		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.Q809E	ENST00000259253.6	37	c.2425	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666714	0.03428	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.27557	1.66;1.66	5.64	3.78	0.43462	.	0.854900	0.10797	N	0.633122	T	0.14485	0.0350	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.003	T	0.29671	-1.0004	9	.	.	.	.	10.7199	0.46034	0.3833:0.5032:0.1134:0.0	.	785;809	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	E	785;809	ENSP00000365158:Q785E;ENSP00000259253:Q809E	.	Q	+	1	0	UGGT1	128633627	0.001000	0.12720	0.485000	0.27403	0.849000	0.48306	0.831000	0.27476	0.794000	0.33899	0.650000	0.86243	CAG	UGGT1	-	NULL		0.453	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	C	NM_020120		128917157	1	no_errors	ENST00000259253	ensembl	human	known	70_37	missense	SNP	0.202	G	G	128917157	C	G	128917157	3	3	147	1	0	0	0	0	1	0	0	0	16972	827	29	1	2515	1	UGGT1	2	128917157	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	15610187	128917157	114282216	165	23419										
FAM123C	205147	genome.wustl.edu	37	chr2	131521047	131521047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcttccgagtgggggccgagGagaacttggccccagcacca	15	13	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:131521047G>A	ENST00000423981.1	+	2	1512	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	AMER3_ENST00000321420.4_Missense_Mutation_p.E468K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	468					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGGGGCCGAGGAGAACTTGGC	0.637																																																	0													27	29	29					2																	131521047		2202	4300	6502	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1402G>A	2.37:g.131521047G>A	ENSP00000392700:p.Glu468Lys		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E468K	ENST00000423981.1	37	c.1402	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737919	0.89573	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.56103	0.48;0.48	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000076	T	0.63367	0.2505	L	0.32530	0.975	0.41765	D	0.989735	D	0.89917	1.0	D	0.80764	0.994	T	0.67011	-0.5778	10	0.87932	D	0	.	16.5146	0.84296	0.0:0.0:1.0:0.0	.	468	Q8N944	F123C_HUMAN	K	468	ENSP00000314914:E468K;ENSP00000392700:E468K	ENSP00000314914:E468K	E	+	1	0	FAM123C	131237517	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.565000	0.82337	2.571000	0.86741	0.561000	0.74099	GAG	FAM123C	-	NULL		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	G	NM_152698		131521047	1	no_errors	ENST00000321420	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131521047	G	A	131521047	3	1	147	1	0	0	0	0	1	0	0	0	5439	1175	41	1	1404	1	FAM123C	2	131521047	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2603890	131521047	111678326	166	23420										
TUBA3D	113457	genome.wustl.edu	37	chr2	132235876	132235876	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cattggtggcggggacgactCcttcaacacgttcttcagtg	12	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:132235876C>G	ENST00000321253.6	+	2	250	c.143C>G	c.(142-144)tCc>tGc	p.S48C		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	48					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGGACGACTCCTTCAACACG	0.562																																					Ovarian(137;2059 2432 35543 39401)												0													96	83	88					2																	132235876		2203	4299	6502	SO:0001583	missense	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.143C>G	2.37:g.132235876C>G	ENSP00000326042:p.Ser48Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S48C	ENST00000321253.6	37	c.143	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	c	6.059	0.379121	0.11466	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.70986	-0.53	2.47	2.47	0.30058	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.45126	U	0.000396	T	0.72898	0.3518	M	0.87269	2.87	0.49915	D	0.999832	B	0.13145	0.007	B	0.24541	0.054	T	0.75969	-0.3130	10	0.87932	D	0	.	10.6576	0.45684	0.0:1.0:0.0:0.0	.	48	Q13748	TBA3C_HUMAN	C	48	ENSP00000326042:S48C	ENSP00000326042:S48C	S	+	2	0	TUBA3D	131952346	1.000000	0.71417	0.983000	0.44433	0.355000	0.29361	6.679000	0.74513	1.376000	0.46267	0.194000	0.17425	TCC	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	C	NM_080386		132235876	1	no_errors	ENST00000321253	ensembl	human	known	70_37	missense	SNP	1.000	G	G	132235876	C	G	132235876	3	3	147	1	0	0	0	0	1	0	0	0	16778	855	30	1	149	1	TUBA3D	2	132235876	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	714829	132235876	110963497	167	23421										
MGAT5	4249	genome.wustl.edu	37	chr2	135206278	135206278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acatcctggtgccctcctttGaccctaagaataagcactgt	7	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:135206278G>A	ENST00000409645.1	+	17	2338	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	MGAT5_ENST00000281923.2_Missense_Mutation_p.D696N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	696					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCCCTCCTTTGACCCTAAGAA	0.567																																																	0													206	197	200					2																	135206278		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2086G>A	2.37:g.135206278G>A	ENSP00000386377:p.Asp696Asn		D3DP70	Missense_Mutation	SNP	NULL	p.D696N	ENST00000409645.1	37	c.2086	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	7.261	0.605245	0.14002	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	4.18	0.49190	.	0.170007	0.64402	D	0.000005	T	0.37433	0.1003	L	0.37630	1.12	0.40875	D	0.983942	P	0.36535	0.557	B	0.28305	0.088	T	0.19712	-1.0297	9	0.13853	T	0.58	-9.2577	14.7381	0.69430	0.0:0.0:0.8495:0.1504	.	696	Q09328	MGT5A_HUMAN	N	696	.	ENSP00000281923:D696N	D	+	1	0	MGAT5	134922748	1.000000	0.71417	0.909000	0.35828	0.996000	0.88848	4.940000	0.63533	1.215000	0.43411	0.655000	0.94253	GAC	MGAT5	-	NULL		0.567	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	G	NM_002410		135206278	1	no_errors	ENST00000281923	ensembl	human	known	70_37	missense	SNP	0.997	A	A	135206278	G	A	135206278	3	1	147	1	0	0	0	0	1	0	0	0	9571	1290	45	1	2148	1	MGAT5	2	135206278	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2970402	135206278	107993095	168	23422										
YSK4	80122	genome.wustl.edu	37	chr2	135738993	135738993	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctacttcttcctgtagtttCcggtattccttttcagcagc	6	12	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:135738993C>G	ENST00000375845.3	-	9	3348	c.3318G>C	c.(3316-3318)cgG>cgC	p.R1106R	MAP3K19_ENST00000392917.3_Silent_p.R238R|MAP3K19_ENST00000358371.4_Silent_p.R993R|MAP3K19_ENST00000375844.3_Silent_p.R288R|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CCTGTAGTTTCCGGTATTCCT	0.413																																																	0													123	111	115					2																	135738993		2203	4300	6503	SO:0001819	synonymous_variant	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3318G>C	2.37:g.135738993C>G			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R1106	ENST00000375845.3	37	c.3318	CCDS2176.2	2																																																																																			MAP3K19	-	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		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	C	NM_025052		135738993	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	silent	SNP	0.982	G	G	135738993	C	G	135738993	2	3	147	1	0	0	0	0	0	0	0	1	17526	842	30	1		1	YSK4	2	135738993	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	532715	135738993	107460380	169	23423										
YSK4	80122	genome.wustl.edu	37	chr2	135744028	135744028	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttcaacaatggataaatctGagacaggagggaattcattc	9	7	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:135744028G>C	ENST00000375845.3	-	7	2444	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.S692*|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.S822*|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	805							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGATAAATCTGAGACAGGAGG	0.398																																																	0													70	69	69					2																	135744028		2203	4300	6503	SO:0001587	stop_gained	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2414C>G	2.37:g.135744028G>C	ENSP00000365005:p.Ser805*		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_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.S805*	ENST00000375845.3	37	c.2414	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	34	5.328941	0.95733	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	.	.	.	4.67	3.8	0.43715	.	0.000000	0.38217	N	0.001776	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.1686	0.48558	0.0855:0.0:0.9145:0.0	.	.	.	.	X	805;692;822;195	.	ENSP00000351140:S692X	S	-	2	0	YSK4	135460498	1.000000	0.71417	0.985000	0.45067	0.323000	0.28346	4.387000	0.59626	1.182000	0.42928	0.462000	0.41574	TCA	MAP3K19	-	NULL		0.398	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135744028	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	135744028	G	C	135744028	4	2	147	1	0	0	0	0	0	1	0	0	17526	1294	45	1	1588	1	YSK4	2	135744028	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5035	135744028	107455345	170	23424										
NXPH2	11249	genome.wustl.edu	37	chr2	139428861	139428861	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttatgtcggaaatacacactGaaggttccatttccatggtc	8	9	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:139428861G>A	ENST00000272641.3	-	2	532	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	142	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AATACACACTGAAGGTTCCAT	0.433																																																	0													51	46	48					2																	139428861		1888	4122	6010	SO:0001819	synonymous_variant	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.426C>T	2.37:g.139428861G>A			B7WP24|Q494R1|Q75QC3	Silent	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.F142	ENST00000272641.3	37	c.426	CCDS46421.1	2																																																																																			NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.433	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	G			139428861	-1	no_errors	ENST00000272641	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139428861	G	A	139428861	2	1	147	1	0	0	0	0	0	0	0	1	10815	1281	45	1		1	NXPH2	2	139428861	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3684833	139428861	103770512	171	23425										
MBD5	55777	genome.wustl.edu	37	chr2	149226147	149226147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagtgaacatggacagaaatCtccattccgtggcagccatg	10	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:149226147C>G	ENST00000407073.1	+	9	1632	c.635C>G	c.(634-636)tCt>tGt	p.S212C	MBD5_ENST00000404807.1_Missense_Mutation_p.S212C	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	212					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGACAGAAATCTCCATTCCGT	0.532																																																	0													113	110	111					2																	149226147		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.635C>G	2.37:g.149226147C>G	ENSP00000386049:p.Ser212Cys		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.S212C	ENST00000407073.1	37	c.635	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301062	0.60195	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.60797	0.16;0.22	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	T	0.65417	0.2689	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70630	-0.4819	10	0.72032	D	0.01	-6.7601	19.0076	0.92857	0.0:1.0:0.0:0.0	.	212	Q9P267	MBD5_HUMAN	C	212	ENSP00000386049:S212C;ENSP00000384672:S212C	ENSP00000384672:S212C	S	+	2	0	MBD5	148942617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.571000	0.86741	0.591000	0.81541	TCT	MBD5	-	NULL		0.532	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	C			149226147	1	no_errors	ENST00000407073	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149226147	C	G	149226147	3	3	147	1	0	0	0	0	1	0	0	0	9370	913	32	1	649	1	MBD5	2	149226147	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9797286	149226147	93973226	172	23426										
LYPD6	130574	genome.wustl.edu	37	chr2	150327251	150327251	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acttgccactgccccgaaatGaaactgatgccacatttgcc	7	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:150327251G>A	ENST00000334166.4	+	5	660	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	LYPD6_ENST00000409381.1_Missense_Mutation_p.E135K	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	135	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		GCCCCGAAATGAAACTGATGC	0.443																																																	0													256	221	233					2																	150327251		2203	4300	6503	SO:0001583	missense	130574			BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.403G>A	2.37:g.150327251G>A	ENSP00000334463:p.Glu135Lys		B3KWC0|Q4G121|Q53TR3|Q659B1	Missense_Mutation	SNP	pfam_LY6_UPAR	p.E135K	ENST00000334166.4	37	c.403	CCDS2188.1	2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463260	0.63513	.	.	ENSG00000187123	ENST00000409381;ENST00000334166	T;T	0.13538	2.58;2.58	5.18	5.18	0.71444	Ly-6 antigen / uPA receptor -like (1);	0.314836	0.38111	N	0.001805	T	0.15955	0.0384	L	0.47716	1.5	0.58432	D	0.999999	B	0.33266	0.404	B	0.33620	0.167	T	0.01863	-1.1258	10	0.49607	T	0.09	-24.6863	16.2173	0.82238	0.0:0.0:1.0:0.0	.	135	Q86Y78	LYPD6_HUMAN	K	135	ENSP00000386413:E135K;ENSP00000334463:E135K	ENSP00000334463:E135K	E	+	1	0	LYPD6	150035497	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.848000	0.69458	2.686000	0.91538	0.655000	0.94253	GAA	LYPD6	-	NULL		0.443	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD6	HGNC	protein_coding	OTTHUMT00000254800.2	G	NM_194317		150327251	1	no_errors	ENST00000334166	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150327251	G	A	150327251	3	1	147	1	0	0	0	0	1	0	0	0	9137	1291	45	1	417	1	LYPD6	2	150327251	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1101104	150327251	92872122	173	23427										
CYTIP	9595	genome.wustl.edu	37	chr2	158272376	158272376	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctccggttcctccttgaaGatgacctcctcagaaaatca	7	13	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:158272376G>A	ENST00000264192.3	-	8	1014	c.893C>T	c.(892-894)tCt>tTt	p.S298F	CYTIP_ENST00000540637.1_Missense_Mutation_p.S192F	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	298	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCTCCTTGAAGATGACCTCCT	0.552																																																	0													116	108	110					2																	158272376		2203	4300	6503	SO:0001583	missense	9595			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.893C>T	2.37:g.158272376G>A	ENSP00000264192:p.Ser298Phe		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S298F	ENST00000264192.3	37	c.893	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034668	0.35893	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.48201	2.12;0.82	5.76	5.76	0.90799	.	0.216900	0.48286	D	0.000193	T	0.50480	0.1618	M	0.68317	2.08	0.42205	D	0.99178	P	0.39576	0.679	B	0.35813	0.211	T	0.57470	-0.7806	10	0.72032	D	0.01	-12.7481	19.9192	0.97079	0.0:0.0:1.0:0.0	.	298	O60759	CYTIP_HUMAN	F	298;192	ENSP00000264192:S298F;ENSP00000440801:S192F	ENSP00000264192:S298F	S	-	2	0	CYTIP	157980622	0.877000	0.30153	0.559000	0.28332	0.127000	0.20565	4.171000	0.58236	2.882000	0.98803	0.655000	0.94253	TCT	CYTIP	-	NULL		0.552	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	G	NM_004288		158272376	-1	no_errors	ENST00000264192	ensembl	human	known	70_37	missense	SNP	0.958	A	A	158272376	G	A	158272376	3	1	147	1	0	0	0	0	1	0	0	0	4212	942	33	1	190	1	CYTIP	2	158272376	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7945125	158272376	84926997	174	23428										
UPP2	151531	genome.wustl.edu	37	chr2	158980369	158980369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaatattgaaatggaatctaCagtgtttgcagctatgtgtg	11	4	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:158980369C>T	ENST00000005756.4	+	6	967	c.773C>T	c.(772-774)aCa>aTa	p.T258I	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.T315I|UPP2_ENST00000605860.1_Missense_Mutation_p.T315I	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	258				ESTVFAA -> GIYSVCS (in Ref. 1; AAO61681). {ECO:0000305}.	nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ATGGAATCTACAGTGTTTGCA	0.403																																																	0													144	135	138					2																	158980369		2203	4300	6503	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.773C>T	2.37:g.158980369C>T	ENSP00000005756:p.Thr258Ile		B3KV87	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.T315I	ENST00000005756.4	37	c.944	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963635	0.53507	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.86769	-2.17;-2.17	4.79	4.79	0.61399	Nucleoside phosphorylase domain (1);	0.167220	0.51477	D	0.000082	D	0.92766	0.7700	M	0.73962	2.25	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.92441	0.5962	10	0.44086	T	0.13	.	16.5801	0.84712	0.0:1.0:0.0:0.0	.	258	O95045	UPP2_HUMAN	I	315;258	ENSP00000387230:T315I;ENSP00000005756:T258I	ENSP00000005756:T258I	T	+	2	0	UPP2	158688615	0.858000	0.29795	0.994000	0.49952	0.449000	0.32228	4.584000	0.60971	2.481000	0.83766	0.551000	0.68910	ACA	UPP2	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk		0.403	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	C	NM_173355		158980369	1	no_errors	ENST00000409859	ensembl	human	known	70_37	missense	SNP	0.998	T	T	158980369	C	T	158980369	3	4	147	1	0	0	0	0	1	0	0	0	17044	478	17	4	974	4	UPP2	2	158980369	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	707993	158980369	84219004	175	23429										
WDSUB1	151525	genome.wustl.edu	37	chr2	160139519	160139519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagtagccaagagggaaaagGagaaggcacagcagttgaca	14	6	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:160139519G>C	ENST00000409990.3	-	2	318	c.62C>G	c.(61-63)tCc>tGc	p.S21C	WDSUB1_ENST00000392796.3_Missense_Mutation_p.S21C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S21C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S21C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S21C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	21							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GAGGGAAAAGGAGAAGGCACA	0.413																																																	0													115	110	112					2																	160139519		2203	4300	6503	SO:0001583	missense	151525			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.62C>G	2.37:g.160139519G>C	ENSP00000387078:p.Ser21Cys		Q53TI9|Q8N6N8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S21C	ENST00000409990.3	37	c.62	CCDS2208.1	2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905586	0.92107	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.82020	-0.0664	10	0.87932	D	0	.	19.4966	0.95075	0.0:0.0:1.0:0.0	.	21;21;21	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	C	21	ENSP00000352820:S21C;ENSP00000350866:S21C;ENSP00000376545:S21C;ENSP00000387078:S21C;ENSP00000386891:S21C	ENSP00000350866:S21C	S	-	2	0	WDSUB1	159847765	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	9.737000	0.98831	2.616000	0.88540	0.650000	0.86243	TCC	WDSUB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.413	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDSUB1	HGNC	protein_coding	OTTHUMT00000333339.1	G	NM_152528		160139519	-1	no_errors	ENST00000359774	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160139519	G	C	160139519	3	2	147	1	0	0	0	0	1	0	0	0	17372	1174	41	1	1408	1	WDSUB1	2	160139519	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1159150	160139519	83059854	176	23430										
BAZ2B	29994	genome.wustl.edu	37	chr2	160181437	160181437	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagaaaaggccatgcatcctCatgagtttccatttcagtca	7	10	3	2	rs538106370	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:160181437C>A	ENST00000392783.2	-	36	6733	c.6238G>T	c.(6238-6240)Gag>Tag	p.E2080*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.E2044*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.E2046*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.E1980*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2080	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATGCATCCTCATGAGTTTCC	0.303																																																	0													59	56	57					2																	160181437		1803	4084	5887	SO:0001587	stop_gained	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6238G>T	2.37:g.160181437C>A	ENSP00000376534:p.Glu2080*		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E2080*	ENST00000392783.2	37	c.6238	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	48	14.839530	0.99812	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.	.	.	5.48	5.48	0.80851	.	0.000000	0.37136	U	0.002227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.0411	19.7236	0.96153	0.0:1.0:0.0:0.0	.	.	.	.	X	2044;2080;2046;1980	.	ENSP00000339670:E1980X	E	-	1	0	BAZ2B	159889683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.070000	0.71220	2.730000	0.93505	0.655000	0.94253	GAG	BAZ2B	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.303	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160181437	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	160181437	C	A	160181437	4	1	147	1	0	0	0	0	0	1	0	0	1333	835	29	3	276	3	BAZ2B	2	160181437	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	41918	160181437	83017936	177	23431										
SCN9A	6335	genome.wustl.edu	37	chr2	167055593	167055593	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agagaatccatctccccactCtcacccaaaacacgctttgt	4	16	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:167055593C>T	ENST00000409435.1	-	26	5555	c.5556G>A	c.(5554-5556)gaG>gaA	p.E1852E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.E1853E|SCN9A_ENST00000303354.6_Silent_p.E1853E|SCN9A_ENST00000409672.1_Silent_p.E1841E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1852					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCCCACTCTCACCCAAAA	0.448																																																	0													136	141	139					2																	167055593		2203	4300	6503	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5556G>A	2.37:g.167055593C>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E1853	ENST00000409435.1	37	c.5559	CCDS46441.1	2																																																																																			SCN9A	-	NULL		0.448	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167055593	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	silent	SNP	0.013	T	T	167055593	C	T	167055593	2	4	147	1	0	0	0	0	0	0	0	1	13955	912	32	1		1	SCN9A	2	167055593	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6874156	167055593	76143780	178	23432										
DHRS9	10170	genome.wustl.edu	37	chr2	169952147	169952147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgctctaacaagtctcttccCtaagactcattatgccgctg	6	14	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:169952147C>G	ENST00000327239.4	+	8	2334	c.830C>G	c.(829-831)cCt>cGt	p.P277R	DHRS9_ENST00000412271.1_Missense_Mutation_p.P277R|DHRS9_ENST00000436483.2_Missense_Mutation_p.P277R|DHRS9_ENST00000432060.2_Missense_Mutation_p.P337R|DHRS9_ENST00000357546.2_Missense_Mutation_p.P277R|DHRS9_ENST00000421653.1_Missense_Mutation_p.P130R|DHRS9_ENST00000602501.1_Missense_Mutation_p.P277R|DHRS9_ENST00000428522.1_Missense_Mutation_p.P277R	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	277					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTCTTCCCTAAGACTCAT	0.423																																																	0													135	130	132					2																	169952147		2203	4300	6503	SO:0001583	missense	10170			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.830C>G	2.37:g.169952147C>G	ENSP00000316670:p.Pro277Arg		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P337R	ENST00000327239.4	37	c.1010	CCDS2231.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747057	0.89663	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	H	0.94542	3.55	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97868	1.0284	10	0.87932	D	0	.	19.936	0.97142	0.0:1.0:0.0:0.0	.	337;277	B7Z416;Q9BPW9	.;DHRS9_HUMAN	R	277;277;337;277;130;277;277	ENSP00000316670:P277R;ENSP00000350154:P277R;ENSP00000389241:P337R;ENSP00000388564:P277R;ENSP00000388066:P130R;ENSP00000407167:P277R;ENSP00000407747:P277R	ENSP00000316670:P277R	P	+	2	0	DHRS9	169660393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.581000	0.67471	2.814000	0.96858	0.655000	0.94253	CCT	DHRS9	-	NULL		0.423	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	HGNC	protein_coding	OTTHUMT00000333612.3	C	NM_005771		169952147	1	no_errors	ENST00000432060	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169952147	C	G	169952147	3	3	147	1	0	0	0	0	1	0	0	0	4508	681	24	4	844	4	DHRS9	2	169952147	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2896554	169952147	73247226	179	23433										
LRP2	4036	genome.wustl.edu	37	chr2	169995136	169995136	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggtccaaaaccagacactCcaatatccatgttaagatct	5	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:169995136C>G	ENST00000263816.3	-	75	13754	c.13469G>C	c.(13468-13470)gGa>gCa	p.G4490A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4490					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACCAGACACTCCAATATCCAT	0.408																																																	0													121	95	104					2																	169995136		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13469G>C	2.37:g.169995136C>G	ENSP00000263816:p.Gly4490Ala		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G4490A	ENST00000263816.3	37	c.13469	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758831	0.69763	.	.	ENSG00000081479	ENST00000263816	D	0.89681	-2.55	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	P	0.44394	0.448	T	0.80841	-0.1202	10	0.11485	T	0.65	.	18.978	0.92745	0.0:1.0:0.0:0.0	.	4490	P98164	LRP2_HUMAN	A	4490	ENSP00000263816:G4490A	ENSP00000263816:G4490A	G	-	2	0	LRP2	169703382	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	4.328000	0.59253	2.558000	0.86282	0.655000	0.94253	GGA	LRP2	-	NULL		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		169995136	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169995136	C	G	169995136	3	3	147	1	0	0	0	0	1	0	0	0	8979	855	30	1	518	1	LRP2	2	169995136	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	42989	169995136	73204237	180	23434										
LRP2	4036	genome.wustl.edu	37	chr2	170011056	170011056	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actctgagaacctctcagatGagagattatattttcgaatt	7	7	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:170011056G>C	ENST00000263816.3	-	66	12494	c.12209C>G	c.(12208-12210)tCa>tGa	p.S4070*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4070					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCTCTCAGATGAGAGATTATA	0.383																																																	0													82	82	82					2																	170011056		2203	4300	6503	SO:0001587	stop_gained	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12209C>G	2.37:g.170011056G>C	ENSP00000263816:p.Ser4070*		O00711|Q16215	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4070*	ENST00000263816.3	37	c.12209	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	55	23.956529	0.99958	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.7	5.7	0.88788	.	0.058797	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8457	0.96706	0.0:0.0:1.0:0.0	.	.	.	.	X	4070	.	ENSP00000263816:S4070X	S	-	2	0	LRP2	169719302	1.000000	0.71417	0.963000	0.40424	0.941000	0.58515	9.605000	0.98321	2.662000	0.90505	0.655000	0.94253	TCA	LRP2	-	superfamily_Growth_fac_rcpt		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170011056	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	170011056	G	C	170011056	4	2	147	1	0	0	0	0	0	1	0	0	8979	1294	45	1	1814	1	LRP2	2	170011056	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	15920	170011056	73188317	181	23435										
PHOSPHO2	493911	genome.wustl.edu	37	chr2	170557671	170557671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ataagggtgtaagagaacatGaaatgaaaagagcagtgaca	12	3	0	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:170557671G>C	ENST00000359744.3	+	4	578	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	64							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						AAGAGAACATGAAATGAAAAG	0.358																																																	0													111	111	111					2																	170557671		2203	4300	6503	SO:0001583	missense	493911			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.190G>C	2.37:g.170557671G>C	ENSP00000352782:p.Glu64Gln		B2RC30|D3DPC7	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.E64Q	ENST00000359744.3	37	c.190	CCDS33319.1	2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582161	0.28180	.	.	ENSG00000144362	ENST00000359744;ENST00000438710	T;T	0.46819	0.86;0.86	5.24	5.24	0.73138	HAD-like domain (1);	0.354602	0.27249	U	0.020232	T	0.38532	0.1044	L	0.27053	0.805	0.28367	N	0.920193	B	0.13594	0.008	B	0.23419	0.046	T	0.11743	-1.0575	10	0.16420	T	0.52	.	19.1808	0.93622	0.0:0.0:1.0:0.0	.	64	Q8TCD6	PHOP2_HUMAN	Q	64	ENSP00000352782:E64Q;ENSP00000411844:E64Q	ENSP00000352782:E64Q	E	+	1	0	PHOSPHO2	170265917	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.374000	0.66167	2.604000	0.88044	0.655000	0.94253	GAA	PHOSPHO2	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.358	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO2	HGNC	protein_coding	OTTHUMT00000333304.1	G	NM_001008489		170557671	1	no_errors	ENST00000359744	ensembl	human	known	70_37	missense	SNP	1.000	C	C	170557671	G	C	170557671	3	2	147	1	0	0	0	0	1	0	0	0	11881	1291	45	1	192	1	PHOSPHO2	2	170557671	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	546615	170557671	72641702	182	23436										
PHOSPHO2	493911	genome.wustl.edu	37	chr2	170557827	170557827	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagaagctgccagttttcatGacatatttgataaagtgttt	8	5	1	3	rs201792555		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:170557827G>C	ENST00000359744.3	+	4	734	c.346G>C	c.(346-348)Gac>Cac	p.D116H	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	116							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CAGTTTTCATGACATATTTGA	0.313																																																	0													52	53	53					2																	170557827		2203	4300	6503	SO:0001583	missense	493911			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.346G>C	2.37:g.170557827G>C	ENSP00000352782:p.Asp116His		B2RC30|D3DPC7	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.D116H	ENST00000359744.3	37	c.346	CCDS33319.1	2	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347646	0.01266	.	.	ENSG00000144362	ENST00000359744;ENST00000438710	T;T	0.48201	0.82;0.82	5.81	3.03	0.35002	HAD-like domain (2);	0.550760	0.17776	U	0.162412	T	0.32346	0.0826	L	0.33189	0.99	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.16217	-1.0410	10	0.27785	T	0.31	.	6.3126	0.21173	0.3318:0.1197:0.5485:0.0	.	116	Q8TCD6	PHOP2_HUMAN	H	116	ENSP00000352782:D116H;ENSP00000411844:D116H	ENSP00000352782:D116H	D	+	1	0	PHOSPHO2	170266073	0.105000	0.21958	0.073000	0.20177	0.015000	0.08874	1.385000	0.34408	0.813000	0.34350	-0.140000	0.14226	GAC	PHOSPHO2	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.313	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO2	HGNC	protein_coding	OTTHUMT00000333304.1	G	NM_001008489		170557827	1	no_errors	ENST00000359744	ensembl	human	known	70_37	missense	SNP	0.004	C	C	170557827	G	C	170557827	3	2	147	1	0	0	0	0	1	0	0	0	11881	1290	45	1	348	1	PHOSPHO2	2	170557827	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	156	170557827	72641546	183	23437										
SLC25A12	8604	genome.wustl.edu	37	chr2	172648021	172648021	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgtccattttcatcagccaGaagtagtttgcaatgagcat	9	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:172648021G>C	ENST00000422440.2	-	15	1562	c.1525C>G	c.(1525-1527)Ctg>Gtg	p.L509V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.L402V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	509					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|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)	integral component of membrane (GO:0016021)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCATCAGCCAGAAGTAGTTTG	0.423																																																	0													102	100	101					2																	172648021		2203	4300	6503	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1525C>G	2.37:g.172648021G>C	ENSP00000388658:p.Leu509Val		B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L509V	ENST00000422440.2	37	c.1525	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852901	0.32699	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	D;D	0.82167	-1.58;-1.58	5.92	3.12	0.35913	Mitochondrial carrier domain (2);	0.202611	0.42821	D	0.000646	T	0.78729	0.4329	L	0.48986	1.54	0.31066	N	0.713519	B;B	0.29612	0.251;0.251	B;B	0.39152	0.213;0.292	T	0.73129	-0.4080	10	0.35671	T	0.21	-3.2759	6.0992	0.20037	0.2544:0.0:0.6248:0.1208	.	402;509	B3KR64;O75746	.;CMC1_HUMAN	V	509;402	ENSP00000388658:L509V;ENSP00000376371:L402V	ENSP00000376371:L402V	L	-	1	2	SLC25A12	172356267	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	1.418000	0.34782	0.385000	0.24970	0.655000	0.94253	CTG	SLC25A12	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom		0.423	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172648021	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	missense	SNP	0.213	C	C	172648021	G	C	172648021	3	2	147	1	0	0	0	0	1	0	0	0	14504	933	33	1	527	1	SLC25A12	2	172648021	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2090194	172648021	70551352	184	23438										
TTN	7273	genome.wustl.edu	37	chr2	179399950	179399950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catggagacttccctggtttCatctacctcttcatcatagt	6	12	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179399950C>T	ENST00000591111.1	-	308	96693	c.96469G>A	c.(96469-96471)Gaa>Aaa	p.E32157K	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24925K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24858K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31230K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24733K|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33798K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32157					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCTGGTTTCATCTACCTCT	0.413																																																	0													137	130	132					2																	179399950		1877	4092	5969	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96469G>A	2.37:g.179399950C>T	ENSP00000465570:p.Glu32157Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E31230K	ENST00000591111.1	37	c.93688		2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252943	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;0.07;0.05;0.04	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59390	0.2190	N	0.14661	0.345	0.58432	D	0.999998	D;D;D;D	0.58268	0.982;0.982;0.982;0.982	P;P;P;P	0.51266	0.664;0.664;0.664;0.664	T	0.65768	-0.6088	9	0.87932	D	0	.	20.1075	0.97898	0.0:1.0:0.0:0.0	.	24733;24858;24925;32157	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31230;24733;24925;24858;24730	ENSP00000343764:E31230K;ENSP00000434586:E24733K;ENSP00000340554:E24925K;ENSP00000352154:E24858K	ENSP00000340554:E24925K	E	-	1	0	TTN	179108196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.754000	0.94517	0.557000	0.71058	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179399950	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179399950	C	T	179399950	3	4	147	1	0	0	0	0	1	0	0	0	16766	835	29	1	6607	1	TTN	2	179399950	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6751929	179399950	63799423	185	23439										
TTN	7273	genome.wustl.edu	37	chr2	179406306	179406306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taatgtttctgggggtccagGaatacctgcagcaagacaga	12	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179406306G>A	ENST00000591111.1	-	300	92799	c.92575C>T	c.(92575-92577)Cct>Tct	p.P30859S	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23627S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23560S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29932S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23435S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32500S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30859					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGTCCAGGAATACCTGCA	0.428																																																	0													58	53	55					2																	179406306		1914	4114	6028	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92575C>T	2.37:g.179406306G>A	ENSP00000465570:p.Pro30859Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P29932S	ENST00000591111.1	37	c.89794		2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461354	0.84317	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.56	5.56	0.83823	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96015	0.8702	H	0.96398	3.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.996	D	0.97015	0.9739	9	0.87932	D	0	.	19.5319	0.95232	0.0:0.0:1.0:0.0	.	23435;23560;23627;30859	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	29932;23435;23627;23560;23432	ENSP00000343764:P29932S;ENSP00000434586:P23435S;ENSP00000340554:P23627S;ENSP00000352154:P23560S	ENSP00000340554:P23627S	P	-	1	0	TTN	179114552	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.864000	0.99589	2.616000	0.88540	0.561000	0.74099	CCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179406306	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179406306	G	A	179406306	3	1	147	1	0	0	0	0	1	0	0	0	16766	1174	41	1	10533	1	TTN	2	179406306	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6356	179406306	63793067	186	23440										
TTN	7273	genome.wustl.edu	37	chr2	179407455	179407455	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttcaattcaagtgtgtattCtccagtatctctgatagtgg	8	8	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179407455C>G	ENST00000591111.1	-	298	92427	c.92203G>C	c.(92203-92205)Gaa>Caa	p.E30735Q	TTN_ENST00000342175.6_Missense_Mutation_p.E23503Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23436Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29808Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23311Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32376Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30735	Ig-like 138.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGTATTCTCCAGTATCT	0.378																																																	0													249	237	241					2																	179407455		1871	4115	5986	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92203G>C	2.37:g.179407455C>G	ENSP00000465570:p.Glu30735Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E29808Q	ENST00000591111.1	37	c.89422		2	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825125	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.55	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58538	0.2129	L	0.33624	1.015	0.40350	D	0.979121	B;B;B;B	0.21905	0.062;0.062;0.062;0.062	B;B;B;B	0.27608	0.081;0.081;0.081;0.081	T	0.59467	-0.7449	9	0.87932	D	0	.	13.4504	0.61167	0.0:0.922:0.0:0.078	.	23311;23436;23503;30735	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29808;23311;23503;23436;23308	ENSP00000343764:E29808Q;ENSP00000434586:E23311Q;ENSP00000340554:E23503Q;ENSP00000352154:E23436Q	ENSP00000340554:E23503Q	E	-	1	0	TTN	179115701	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.662000	0.46766	1.291000	0.44653	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179407455	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179407455	C	G	179407455	3	3	147	1	0	0	0	0	1	0	0	0	16766	922	32	1	10913	1	TTN	2	179407455	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1149	179407455	63791918	187	23441										
TTN	7273	genome.wustl.edu	37	chr2	179426276	179426276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaaagaatgctgcttctttCtttatactcaagatgatagc	6	9	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179426276C>T	ENST00000591111.1	-	276	79884	c.79660G>A	c.(79660-79662)Gaa>Aaa	p.E26554K	TTN_ENST00000342175.6_Missense_Mutation_p.E19322K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19255K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25627K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19130K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28195K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26554	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCTTTCTTTATACTCA	0.398																																																	0													82	76	78					2																	179426276		1892	4104	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79660G>A	2.37:g.179426276C>T	ENSP00000465570:p.Glu26554Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E25627K	ENST00000591111.1	37	c.76879		2	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245385	0.59103	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.01	6.01	0.97437	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67230	0.2871	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.57911	0.829;0.829;0.829;0.829	T	0.67260	-0.5715	9	0.87932	D	0	.	20.5073	0.99209	0.0:1.0:0.0:0.0	.	19130;19255;19322;26554	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25627;19130;19322;19255;19128	ENSP00000343764:E25627K;ENSP00000434586:E19130K;ENSP00000340554:E19322K;ENSP00000352154:E19255K	ENSP00000340554:E19322K	E	-	1	0	TTN	179134522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.855000	0.98099	0.585000	0.79938	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179426276	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179426276	C	T	179426276	3	4	147	1	0	0	0	0	1	0	0	0	16766	922	32	1	23544	1	TTN	2	179426276	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	18821	179426276	63773097	188	23442										
TTN	7273	genome.wustl.edu	37	chr2	179436389	179436389	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaggaaagagtaatactatCagctgtcacttcatccattt	6	10	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179436389C>T	ENST00000591111.1	-	276	69771	c.69547G>A	c.(69547-69549)Gat>Aat	p.D23183N	TTN_ENST00000342175.6_Missense_Mutation_p.D15951N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15884N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22256N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15759N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24824N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23183	Fibronectin type-III 68. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATACTATCAGCTGTCACT	0.443																																																	0													81	75	77					2																	179436389		1864	4103	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69547G>A	2.37:g.179436389C>T	ENSP00000465570:p.Asp23183Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D22256N	ENST00000591111.1	37	c.66766		2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923784	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66548	0.2800	L	0.39085	1.19	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.947;0.947;0.947;0.979	T	0.67217	-0.5726	9	0.87932	D	0	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	15759;15884;15951;23183	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22256;15759;15951;15884;15757	ENSP00000343764:D22256N;ENSP00000434586:D15759N;ENSP00000340554:D15951N;ENSP00000352154:D15884N	ENSP00000340554:D15951N	D	-	1	0	TTN	179144635	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179436389	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179436389	C	T	179436389	3	4	147	1	0	0	0	0	1	0	0	0	16766	826	29	1	33657	1	TTN	2	179436389	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10113	179436389	63762984	189	23443										
TTN	7273	genome.wustl.edu	37	chr2	179467112	179467112	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgtacttcctgagctctttCagattaggcaccacacattc	6	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179467112C>G	ENST00000591111.1	-	233	50318	c.50094G>C	c.(50092-50094)ctG>ctC	p.L16698L	TTN_ENST00000342175.6_Silent_p.L9466L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.L9399L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L15771L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.L9274L|TTN_ENST00000589042.1_Silent_p.L18339L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16698	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCTCTTTCAGATTAGGCA	0.413																																																	0													140	139	139					2																	179467112		1892	4110	6002	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50094G>C	2.37:g.179467112C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L15771	ENST00000591111.1	37	c.47313		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179467112	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	G	G	179467112	C	G	179467112	2	3	147	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179467112	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	30723	179467112	63732261	190	23444										
TTN	7273	genome.wustl.edu	37	chr2	179499121	179499121	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacaaccgagctgaggtcttCttgccctccacctcagcagt	8	15	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179499121C>G	ENST00000591111.1	-	180	37688	c.37464G>C	c.(37462-37464)aaG>aaC	p.K12488N	TTN_ENST00000342175.6_Missense_Mutation_p.K5256N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5189N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K11561N|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K5064N|TTN_ENST00000589042.1_Missense_Mutation_p.K14129N|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12488					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGGTCTTCTTGCCCTCCA	0.398																																																	0													58	59	59					2																	179499121		1885	4103	5988	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37464G>C	2.37:g.179499121C>G	ENSP00000465570:p.Lys12488Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K11561N	ENST00000591111.1	37	c.34683		2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014488	0.35511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	6.17	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72479	0.3465	L	0.41415	1.275	0.42278	D	0.992083	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.947;0.947;0.947;0.979	T	0.73084	-0.4094	9	0.87932	D	0	.	10.5677	0.45181	0.0:0.7789:0.0:0.2211	.	5064;5189;5256;12488	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11561;5064;5256;5189;5064	ENSP00000343764:K11561N;ENSP00000434586:K5064N;ENSP00000340554:K5256N;ENSP00000352154:K5189N	ENSP00000340554:K5256N	K	-	3	2	TTN	179207366	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.495000	0.35627	2.941000	0.99782	0.655000	0.94253	AAG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179499121	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179499121	C	G	179499121	3	3	147	1	0	0	0	0	1	0	0	0	16766	912	32	1	65838	1	TTN	2	179499121	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	32009	179499121	63700252	191	23445										
TTN	7273	genome.wustl.edu	37	chr2	179545833	179545833	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcgggttcagtcacctgctCtttttcacgtttggtaattg	10	9	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179545833C>G	ENST00000591111.1	-	136	32586	c.32362G>C	c.(32362-32364)Gag>Cag	p.E10788Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9861Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11105Q			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACCTGCTCTTTTTCACGT	0.318																																																	0													90	88	89					2																	179545833		1811	4072	5883	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32362G>C	2.37:g.179545833C>G	ENSP00000465570:p.Glu10788Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E9861Q	ENST00000591111.1	37	c.29581		2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339552	0.41398	.	.	ENSG00000155657	ENST00000342992	T	0.61510	0.1	5.92	4.05	0.47172	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.34600	0.0903	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.13791	-1.0496	9	0.87932	D	0	.	11.8066	0.52158	0.0:0.7785:0.151:0.0705	.	10788	Q8WZ42	TITIN_HUMAN	Q	9861	ENSP00000343764:E9861Q	ENSP00000343764:E9861Q	E	-	1	0	TTN	179254078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.690000	0.37711	0.745000	0.32763	0.650000	0.86243	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179545833	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179545833	C	G	179545833	3	3	147	1	0	0	0	0	1	0	0	0	16766	922	32	1	71116	1	TTN	2	179545833	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	46712	179545833	63653540	192	23446										
CCDC141	285025	genome.wustl.edu	37	chr2	179714787	179714787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaaattaccttcagtttttCttcgagctctgtgagggact	9	8	3	2	rs139377826		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179714787C>G	ENST00000420890.2	-	21	3463	c.3346G>C	c.(3346-3348)Gaa>Caa	p.E1116Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.E541Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1116										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCAGTTTTTCTTCGAGCTCT	0.318																																																	0													91	92	92					2																	179714787		2203	4300	6503	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3346G>C	2.37:g.179714787C>G	ENSP00000395995:p.Glu1116Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E1116Q	ENST00000420890.2	37	c.3346		2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892836	0.33442	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.34072	1.38;1.38;1.38	5.82	4.91	0.64330	.	0.101956	0.42420	D	0.000708	T	0.29223	0.0727	L	0.32530	0.975	0.27539	N	0.950861	P	0.40431	0.717	B	0.37198	0.243	T	0.13495	-1.0507	10	0.23891	T	0.37	-11.9682	18.2365	0.89951	0.0:0.871:0.129:0.0	.	541	Q6ZP82	CC141_HUMAN	Q	1116;560;541	ENSP00000395995:E1116Q;ENSP00000344627:E560Q;ENSP00000295723:E541Q	ENSP00000295723:E541Q	E	-	1	0	CCDC141	179423032	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.837000	0.39201	2.765000	0.95021	0.650000	0.86243	GAA	CCDC141	-	NULL		0.318	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		C	NM_173648		179714787	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179714787	C	G	179714787	3	3	147	1	0	0	0	0	1	0	0	0	2780	922	32	1	1018	1	CCDC141	2	179714787	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	168954	179714787	63484586	193	23447										
SSFA2	6744	genome.wustl.edu	37	chr2	182786865	182786865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggagtaccttctactgcctCagtgggcaaatccaaaaccc	8	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:182786865C>T	ENST00000431877.2	+	16	3580	c.3401C>T	c.(3400-3402)tCa>tTa	p.S1134L	SSFA2_ENST00000320370.7_Missense_Mutation_p.S1134L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S959L|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.S1112L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S643L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1134						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTACTGCCTCAGTGGGCAAA	0.478																																																	0													116	119	118					2																	182786865		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3401C>T	2.37:g.182786865C>T	ENSP00000388731:p.Ser1134Leu		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S1134L	ENST00000431877.2	37	c.3401	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102928	0.20632	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000451836	T;T;T;T;T	0.14893	2.7;2.47;2.7;2.69;2.47	5.58	3.79	0.43588	.	0.781386	0.12199	N	0.490453	T	0.13157	0.0319	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.002;0.004;0.004;0.004	T	0.31052	-0.9957	10	0.23891	T	0.37	-0.091	9.363	0.38208	0.0:0.7657:0.0:0.2343	.	959;643;1112;1134;1134	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	L	1134;1134;1112;959;643;79	ENSP00000388731:S1134L;ENSP00000314669:S1134L;ENSP00000387319:S1112L;ENSP00000409867:S959L;ENSP00000386916:S643L	ENSP00000314669:S1134L	S	+	2	0	SSFA2	182495110	0.006000	0.16342	0.006000	0.13384	0.580000	0.36256	1.089000	0.30890	0.725000	0.32318	0.563000	0.77884	TCA	SSFA2	-	NULL		0.478	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	C	NM_006751		182786865	1	no_errors	ENST00000431877	ensembl	human	known	70_37	missense	SNP	0.085	T	T	182786865	C	T	182786865	3	4	147	1	0	0	0	0	1	0	0	0	15213	838	29	1	3463	1	SSFA2	2	182786865	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3072078	182786865	60412508	194	23448										
CALCRL	10203	genome.wustl.edu	37	chr2	188225471	188225471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaatgaactgggacactttgCaactaacctgtgaggaaaaa	10	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:188225471C>A	ENST00000409998.1	-	11	1416	c.635G>T	c.(634-636)tGc>tTc	p.C212F	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.C212F|CALCRL_ENST00000410068.1_Missense_Mutation_p.C212F|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	212					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGACACTTTGCAACTAACCTG	0.388																																																	0													63	57	59					2																	188225471		2203	4300	6503	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.635G>T	2.37:g.188225471C>A	ENSP00000386972:p.Cys212Phe		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.C212F	ENST00000409998.1	37	c.635	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521651	0.85600	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	D;D;D	0.82433	-1.61;-1.61;-1.61	5.6	5.6	0.85130	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	D	0.94928	0.8360	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96561	0.9415	10	0.87932	D	0	.	18.6036	0.91257	0.0:1.0:0.0:0.0	.	212	Q16602	CALRL_HUMAN	F	212	ENSP00000376177:C212F;ENSP00000386972:C212F;ENSP00000387190:C212F	ENSP00000376177:C212F	C	-	2	0	CALCRL	187933716	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.796000	0.85898	2.652000	0.90054	0.650000	0.86243	TGC	CALCRL	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.388	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1	C	NM_005795		188225471	-1	no_errors	ENST00000392370	ensembl	human	known	70_37	missense	SNP	1.000	A	A	188225471	C	A	188225471	3	1	147	1	0	0	0	0	1	0	0	0	2585	710	25	4	774	4	CALCRL	2	188225471	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5438606	188225471	54973902	195	23449										
ASNSD1	54529	genome.wustl.edu	37	chr2	190531167	190531167	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aattatctttcctcctgtaaGaatgaatctgagattttgtc	6	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:190531167G>A	ENST00000260952.4	+	4	722	c.309G>A	c.(307-309)aaG>aaA	p.K103K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	103	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CCTCCTGTAAGAATGAATCTG	0.333																																																	0													117	123	121					2																	190531167		2203	4300	6503	SO:0001819	synonymous_variant	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.309G>A	2.37:g.190531167G>A			D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	pfam_Asn_synthase	p.K103	ENST00000260952.4	37	c.309	CCDS2300.1	2																																																																																			ASNSD1	-	NULL		0.333	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	G	NM_019048		190531167	1	no_errors	ENST00000260952	ensembl	human	known	70_37	silent	SNP	0.003	A	A	190531167	G	A	190531167	2	1	147	1	0	0	0	0	0	0	0	1	1050	933	33	1		1	ASNSD1	2	190531167	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2305696	190531167	52668206	196	23450										
OSGEPL1	64172	genome.wustl.edu	37	chr2	190618675	190618675	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttgaggtaacaagtctctCtgcttacaaaacagaatagc	7	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:190618675C>G	ENST00000264151.5	-	5	1032	c.930G>C	c.(928-930)caG>caC	p.Q310H	OSGEPL1_ENST00000519810.1_Missense_Mutation_p.Q310H|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.Q310H|Y_RNA_ENST00000411317.1_RNA	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACAAGTCTCTCTGCTTACAAA	0.373																																																	0													61	60	60					2																	190618675		1890	4106	5996	SO:0001583	missense	64172			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.930G>C	2.37:g.190618675C>G	ENSP00000264151:p.Gln310His			Missense_Mutation	SNP	pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD	p.Q310H	ENST00000264151.5	37	c.930	CCDS46472.1	2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962201	0.34659	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000520350	T;T;T;D	0.99042	2.24;2.24;2.24;-5.36	5.38	2.44	0.29823	Peptidase M22, glycoprotease (1);	0.501813	0.23295	N	0.049750	D	0.96278	0.8786	L	0.46947	1.48	0.36064	D	0.841642	P	0.42161	0.772	B	0.34722	0.188	D	0.95196	0.8312	10	0.46703	T	0.11	-6.0566	7.3258	0.26555	0.0:0.5965:0.0:0.4035	.	310	Q9H4B0	OSGP2_HUMAN	H	310;310;310;163	ENSP00000264151:Q310H;ENSP00000428859:Q310H;ENSP00000429697:Q310H;ENSP00000430062:Q163H	ENSP00000264151:Q310H	Q	-	3	2	OSGEPL1	190326920	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	1.272000	0.33109	0.842000	0.35045	0.650000	0.86243	CAG	OSGEPL1	-	pfam_Gcp-like_dom,tigrfam_KAE1/YgjD		0.373	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEPL1	HGNC	protein_coding	OTTHUMT00000377257.1	C	NM_022353		190618675	-1	no_errors	ENST00000264151	ensembl	human	known	70_37	missense	SNP	0.999	G	G	190618675	C	G	190618675	3	3	147	1	0	0	0	0	1	0	0	0	11312	912	32	1	330	1	OSGEPL1	2	190618675	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	87508	190618675	52580698	197	23451										
STAT4	6775	genome.wustl.edu	37	chr2	191929649	191929649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgttcattaacaggtctgtCtcatggatgatttgggtcat	11	6	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:191929649C>T	ENST00000392320.2	-	8	980	c.666G>A	c.(664-666)gaG>gaA	p.E222E	STAT4_ENST00000358470.4_Silent_p.E222E	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	222					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACAGGTCTGTCTCATGGATGA	0.458																																																	0													146	155	152					2																	191929649		2203	4300	6503	SO:0001819	synonymous_variant	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.666G>A	2.37:g.191929649C>T			Q96NZ6	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E222	ENST00000392320.2	37	c.666	CCDS2310.1	2																																																																																			STAT4	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.458	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	C	NM_003151		191929649	-1	no_errors	ENST00000358470	ensembl	human	known	70_37	silent	SNP	0.961	T	T	191929649	C	T	191929649	2	4	147	1	0	0	0	0	0	0	0	1	15297	912	32	1		1	STAT4	2	191929649	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1310974	191929649	51269724	198	23452										
CCDC150	284992	genome.wustl.edu	37	chr2	197596820	197596820	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtttgatggtctacaacttGagctgacaaaaaaccggttg	11	7	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:197596820G>C	ENST00000389175.4	+	27	3268	c.3133G>C	c.(3133-3135)Gag>Cag	p.E1045Q	CCDC150_ENST00000272831.7_Missense_Mutation_p.E692Q|CCDC150_ENST00000409270.1_Missense_Mutation_p.E532Q	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1045										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTACAACTTGAGCTGACAAA	0.403																																																	0													102	102	102					2																	197596820		1852	4089	5941	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3133G>C	2.37:g.197596820G>C	ENSP00000373827:p.Glu1045Gln		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E1045Q	ENST00000389175.4	37	c.3133	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304757	0.81247	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.56611	0.45	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000016	T	0.68778	0.3038	M	0.62723	1.935	0.33117	D	0.541353	D;P	0.76494	0.999;0.947	D;P	0.83275	0.996;0.74	T	0.72981	-0.4126	10	0.33940	T	0.23	-13.4335	15.6931	0.77469	0.0:0.0:1.0:0.0	.	692;1045	B4DZ03;Q8NCX0	.;CC150_HUMAN	Q	692;1045;532	ENSP00000373827:E1045Q	ENSP00000272831:E692Q	E	+	1	0	CCDC150	197305065	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.825000	0.48096	2.679000	0.91253	0.650000	0.86243	GAG	CCDC150	-	NULL		0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	G	NM_001080539		197596820	1	no_errors	ENST00000389175	ensembl	human	known	70_37	missense	SNP	0.998	C	C	197596820	G	C	197596820	3	2	147	1	0	0	0	0	1	0	0	0	2790	1291	45	1	3239	1	CCDC150	2	197596820	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5667171	197596820	45602553	199	23453										
SATB2	23314	genome.wustl.edu	37	chr2	200213501	200213501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagctcatctctgacttgctGgtagatatctggagagactt	10	9	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:200213501G>A	ENST00000417098.1	-	7	1912	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q248*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Q307*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q366*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q366*	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	366					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGACTTGCTGGTAGATATCT	0.502																																					Colon(30;262 767 11040 24421 36230)												0													165	160	162					2																	200213501		2203	4300	6503	SO:0001587	stop_gained	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1096C>T	2.37:g.200213501G>A	ENSP00000401112:p.Gln366*		A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q366*	ENST00000417098.1	37	c.1096	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.832487	0.98513	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	5.72	5.72	0.89469	.	0.061913	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.7253	19.8861	0.96913	0.0:0.0:1.0:0.0	.	.	.	.	X	366;307;366;248;366	.	ENSP00000260926:Q366X	Q	-	1	0	SATB2	199921746	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.811000	0.99226	2.711000	0.92665	0.655000	0.94253	CAG	SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	G	NM_015265		200213501	-1	no_errors	ENST00000260926	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	200213501	G	A	200213501	4	1	147	1	0	0	0	0	0	1	0	0	13884	1357	47	4	1125	4	SATB2	2	200213501	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2616681	200213501	42985872	200	23454										
SATB2	23314	genome.wustl.edu	37	chr2	200298085	200298085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcctgggccgcagagctgtGagaataccccagggccagga	16	12	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:200298085G>C	ENST00000417098.1	-	3	1138	c.322C>G	c.(322-324)Cac>Gac	p.H108D	SATB2_ENST00000428695.1_Missense_Mutation_p.H108D|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.H108D|SATB2_ENST00000260926.5_Missense_Mutation_p.H108D	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	108					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCAGAGCTGTGAGAATACCCC	0.502																																					Colon(30;262 767 11040 24421 36230)												0													72	73	72					2																	200298085		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.322C>G	2.37:g.200298085G>C	ENSP00000401112:p.His108Asp		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.H108D	ENST00000417098.1	37	c.322	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075971	0.76415	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.981;0.999	D;D	0.85130	0.95;0.997	T	0.61628	-0.7024	10	0.44086	T	0.13	-22.0289	20.1606	0.98132	0.0:0.0:1.0:0.0	.	108;108	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	D	108	ENSP00000401112:H108D;ENSP00000260926:H108D;ENSP00000388581:H108D;ENSP00000405420:H108D	ENSP00000260926:H108D	H	-	1	0	SATB2	200006330	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	2.772000	0.95346	0.650000	0.86243	CAC	SATB2	-	NULL		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	G	NM_015265		200298085	-1	no_errors	ENST00000260926	ensembl	human	known	70_37	missense	SNP	1.000	C	C	200298085	G	C	200298085	3	2	147	1	0	0	0	0	1	0	0	0	13884	1290	45	1	1915	1	SATB2	2	200298085	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	84584	200298085	42901288	201	23455										
SGOL2	151246	genome.wustl.edu	37	chr2	201436969	201436969	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accacatgtatgaggataatGataaagatgtggtgcatggc	12	5	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:201436969G>C	ENST00000357799.4	+	7	1998	c.1900G>C	c.(1900-1902)Gat>Cat	p.D634H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	634					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAGGATAATGATAAAGATGT	0.333																																																	0													81	85	84					2																	201436969		1789	3972	5761	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1900G>C	2.37:g.201436969G>C	ENSP00000350447:p.Asp634His		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.D634H	ENST00000357799.4	37	c.1900	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086599	0.36855	.	.	ENSG00000163535	ENST00000357799	T	0.17213	2.29	5.04	0.193	0.15139	.	0.841211	0.10402	N	0.679018	T	0.12518	0.0304	L	0.38175	1.15	0.21627	N	0.999611	B;B;B	0.21071	0.051;0.051;0.051	B;B;B	0.21917	0.037;0.037;0.037	T	0.32402	-0.9908	10	0.56958	D	0.05	-0.461	4.6159	0.12427	0.3697:0.2869:0.3434:0.0	.	634;634;634	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	634	ENSP00000350447:D634H	ENSP00000350447:D634H	D	+	1	0	SGOL2	201145214	0.000000	0.05858	0.002000	0.10522	0.857000	0.48899	-0.904000	0.04080	0.122000	0.18314	0.585000	0.79938	GAT	SGOL2	-	NULL		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201436969	1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.000	C	C	201436969	G	C	201436969	3	2	147	1	0	0	0	0	1	0	0	0	14247	1290	45	1	1922	1	SGOL2	2	201436969	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1138884	201436969	41762404	202	23456										
CLK1	1195	genome.wustl.edu	37	chr2	201722520	201722520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaaaaccattttctttaatGaagtcgtaagtactaagtcc	6	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:201722520G>A	ENST00000321356.4	-	7	888	c.753C>T	c.(751-753)ttC>ttT	p.F251F	CLK1_ENST00000409769.2_Silent_p.F74F|CLK1_ENST00000434813.2_Silent_p.F293F	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTCTTTAATGAAGTCGTAAG	0.373																																																	0													91	85	87					2																	201722520		2203	4300	6503	SO:0001819	synonymous_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.753C>T	2.37:g.201722520G>A			B4DFW7|Q0P694|Q8N5V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F251	ENST00000321356.4	37	c.753	CCDS2331.1	2																																																																																			CLK1	-	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		0.373	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	G			201722520	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	silent	SNP	1.000	A	A	201722520	G	A	201722520	2	1	147	1	0	0	0	0	0	0	0	1	3541	1281	45	1		1	CLK1	2	201722520	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	285551	201722520	41476853	203	23457										
ALS2CR11	151254	genome.wustl.edu	37	chr2	202410322	202410322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gattacttttcgtgttttcaGatgcctcatctatattagtt	6	7	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:202410322G>C	ENST00000286195.3	-	11	1150	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S369C|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S369C|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.S369C	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	369										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CGTGTTTTCAGATGCCTCATC	0.234																																																	0													56	58	57					2																	202410322		2202	4286	6488	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1106C>G	2.37:g.202410322G>C	ENSP00000286195:p.Ser369Cys		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S369C	ENST00000286195.3	37	c.1106	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	7.515	0.655538	0.14580	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.22	-5.97	0.02227	.	3.532340	0.00970	N	0.003235	T	0.51550	0.1681	L	0.46157	1.445	0.09310	N	1	P;P;D	0.59767	0.924;0.681;0.986	P;B;P	0.56042	0.534;0.325;0.79	T	0.58858	-0.7562	10	0.52906	T	0.07	.	7.4306	0.27126	0.1971:0.1387:0.6641:0.0	.	369;369;369	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	C	369	ENSP00000286195:S369C;ENSP00000400672:S369C;ENSP00000409937:S369C;ENSP00000399016:S369C	ENSP00000286195:S369C	S	-	2	0	ALS2CR11	202118567	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.757000	0.04772	-1.353000	0.02191	0.484000	0.47621	TCT	ALS2CR11	-	NULL		0.234	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	G	NM_152525		202410322	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	missense	SNP	0.000	C	C	202410322	G	C	202410322	3	2	147	1	0	0	0	0	1	0	0	0	552	942	33	1	4527	1	ALS2CR11	2	202410322	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	687802	202410322	40789051	204	23458										
NBEAL1	65065	genome.wustl.edu	37	chr2	203972541	203972541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttagaatcattgaaacccttGacttgcattcttccctccat	4	12	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:203972541G>C	ENST00000449802.1	+	13	1825	c.1492G>C	c.(1492-1494)Gac>Cac	p.D498H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	498										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAAACCCTTGACTTGCATTC	0.418																																																	0													161	135	143					2																	203972541		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.1492G>C	2.37:g.203972541G>C	ENSP00000399903:p.Asp498His		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D498H	ENST00000449802.1	37	c.1492	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853400	0.32791	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.72505	-0.66	5.84	2.79	0.32731	Armadillo-type fold (1);	.	.	.	.	T	0.47210	0.1433	N	0.08118	0	0.23966	N	0.996321	B	0.25609	0.13	B	0.34138	0.176	T	0.37033	-0.9723	9	0.26408	T	0.33	.	1.3987	0.02266	0.2586:0.1488:0.4405:0.1521	.	498	Q6ZS30	NBEL1_HUMAN	H	498	ENSP00000399903:D498H	ENSP00000344985:D498H	D	+	1	0	NBEAL1	203680786	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.452000	0.44961	0.713000	0.32060	0.555000	0.69702	GAC	NBEAL1	-	superfamily_ARM-type_fold		0.418	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			203972541	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.947	C	C	203972541	G	C	203972541	3	2	147	1	0	0	0	0	1	0	0	0	10211	1290	45	1	1538	1	NBEAL1	2	203972541	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1562219	203972541	39226832	205	23459										
PLEKHM3	389072	genome.wustl.edu	37	chr2	208693146	208693146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctgcttcttctgcagctctCggcgaacacacctcgggcag	10	15	4	0	rs375834227		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:208693146C>T	ENST00000427836.2	-	8	2672	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	728					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCAGCTCTCGGCGAACACA	0.507																																																	0								C	GLN/ARG	0,4000		0,0,2000	94	99	98		2183	5.7	1	2		98	1,8349		0,1,4174	no	missense	PLEKHM3	NM_001080475.2	43	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	728/762	208693146	1,12349	2000	4175	6175	SO:0001583	missense	389072			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2183G>A	2.37:g.208693146C>T	ENSP00000417003:p.Arg728Gln		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R728Q	ENST00000427836.2	37	c.2183	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941096	0.92526	0.0	1.2E-4	ENSG00000178385	ENST00000427836	D	0.83673	-1.75	5.68	5.68	0.88126	.	0.426666	0.21403	N	0.075111	D	0.86851	0.6032	M	0.75884	2.315	0.80722	D	1	D	0.65815	0.995	P	0.54965	0.765	D	0.85975	0.1479	10	0.42905	T	0.14	.	9.9985	0.41913	0.0:0.8454:0.0:0.1546	.	728	Q6ZWE6	PKHM3_HUMAN	Q	728	ENSP00000417003:R728Q	ENSP00000417003:R728Q	R	-	2	0	PLEKHM3	208401391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.771000	0.47670	2.704000	0.92352	0.555000	0.69702	CGA	PLEKHM3	-	NULL		0.507	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	C	NM_001080475		208693146	-1	no_errors	ENST00000427836	ensembl	human	known	70_37	missense	SNP	0.990	T	T	208693146	C	T	208693146	3	4	147	1	0	0	0	0	1	0	0	0	12106	884	31	1	106	1	PLEKHM3	2	208693146	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4720605	208693146	34506227	206	23460										
ZNF142	7701	genome.wustl.edu	37	chr2	219513523	219513523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaggtgcagcgcagctcttCactgccagggtggccctgct	14	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219513523C>T	ENST00000449707.1	-	6	1529	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ZNF142_ENST00000411696.2_Missense_Mutation_p.E370K	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGCAGCTCTTCACTGCCAGGG	0.527											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)												0													73	72	72					2																	219513523		2086	4230	6316	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1108G>A	2.37:g.219513523C>T	ENSP00000408643:p.Glu370Lys	2259	Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E370K	ENST00000449707.1	37	c.1108	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705717	0.48412	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12039	2.72;2.72	5.35	4.44	0.53790	Zinc finger, C2H2 (1);	0.190255	0.56097	D	0.000033	T	0.10380	0.0254	N	0.05487	-0.04	0.43095	D	0.994774	P;P	0.47762	0.9;0.859	B;P	0.48873	0.416;0.593	T	0.20207	-1.0282	10	0.08837	T	0.75	-17.8038	16.2684	0.82601	0.0:0.8673:0.1327:0.0	.	370;207	P52746;A8MWU9	ZN142_HUMAN;.	K	370	ENSP00000408643:E370K;ENSP00000398798:E370K	ENSP00000398798:E370K	E	-	1	0	ZNF142	219221767	0.970000	0.33590	0.997000	0.53966	0.999000	0.98932	2.319000	0.43788	1.565000	0.49641	0.655000	0.94253	GAA	ZNF142	-	pfscan_Znf_C2H2		0.527	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	C	NM_005081		219513523	-1	no_errors	ENST00000411696	ensembl	human	known	70_37	missense	SNP	0.975	T	T	219513523	C	T	219513523	3	4	147	1	0	0	0	0	1	0	0	0	17761	835	29	1	3975	1	ZNF142	2	219513523	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10820377	219513523	23685850	207	23461										
ZNF142	7701	genome.wustl.edu	37	chr2	219515149	219515149	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccttctgggtgtcactcttCtcttctttctctacattctc	4	14	7	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219515149C>G	ENST00000449707.1	-	5	802	c.381G>C	c.(379-381)gaG>gaC	p.E127D	ZNF142_ENST00000411696.2_Missense_Mutation_p.E127D	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCACTCTTCTCTTCTTTCT	0.537																																					Colon(170;867 1942 8995 15834 18053)												0													250	251	251					2																	219515149		1963	4160	6123	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.381G>C	2.37:g.219515149C>G	ENSP00000408643:p.Glu127Asp		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E127D	ENST00000449707.1	37	c.381	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009236	0.19277	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13196	2.61;2.61	5.18	-1.35	0.09114	.	0.384619	0.23797	N	0.044475	T	0.08802	0.0218	L	0.44542	1.39	0.09310	N	1	P	0.40000	0.698	B	0.36959	0.237	T	0.18713	-1.0328	10	0.45353	T	0.12	-4.8142	4.3744	0.11263	0.1627:0.3308:0.0:0.5065	.	127	P52746	ZN142_HUMAN	D	127	ENSP00000408643:E127D;ENSP00000398798:E127D	ENSP00000398798:E127D	E	-	3	2	ZNF142	219223393	0.029000	0.19370	0.044000	0.18714	0.350000	0.29205	-0.550000	0.06034	0.041000	0.15688	-0.140000	0.14226	GAG	ZNF142	-	NULL		0.537	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	C	NM_005081		219515149	-1	no_errors	ENST00000411696	ensembl	human	known	70_37	missense	SNP	0.010	G	G	219515149	C	G	219515149	3	3	147	1	0	0	0	0	1	0	0	0	17761	912	32	1	4706	1	ZNF142	2	219515149	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1626	219515149	23684224	208	23462										
STK36	27148	genome.wustl.edu	37	chr2	219553557	219553557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggcttcctgggctgctgctGagtctactcaggcacagtca	13	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219553557G>A	ENST00000295709.3	+	12	1797	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	STK36_ENST00000440309.1_Silent_p.L506L|STK36_ENST00000392106.2_Silent_p.L506L|STK36_ENST00000392105.3_Silent_p.L506L	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGCTGCTGCTGAGTCTACTCA	0.542																																																	0													71	66	67					2																	219553557		2203	4300	6503	SO:0001819	synonymous_variant	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1518G>A	2.37:g.219553557G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L506	ENST00000295709.3	37	c.1518	CCDS2421.1	2																																																																																			STK36	-	NULL		0.542	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	G			219553557	1	no_errors	ENST00000295709	ensembl	human	known	70_37	silent	SNP	0.006	A	A	219553557	G	A	219553557	2	1	147	1	0	0	0	0	0	0	0	1	15332	1277	45	1		1	STK36	2	219553557	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	38408	219553557	23645816	209	23463										
CDK5R2	8941	genome.wustl.edu	37	chr2	219825154	219825154	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctatcgcctcaaggagctGagcccgggcgagctggtggg	17	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219825154G>C	ENST00000302625.4	+	1	778	c.612G>C	c.(610-612)ctG>ctC	p.L204L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	204					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGAGCTGAGCCCGGGCG	0.692																																																	0													24	25	25					2																	219825154		2201	4297	6498	SO:0001819	synonymous_variant	8941			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"neuronal CDK5 activator isoform"	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.612G>C	2.37:g.219825154G>C			Q4ZFW6	Silent	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.L204	ENST00000302625.4	37	c.612	CCDS2427.1	2																																																																																			CDK5R2	-	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator		0.692	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R2	HGNC	protein_coding	OTTHUMT00000256728.1	G	NM_003936		219825154	1	no_errors	ENST00000302625	ensembl	human	known	70_37	silent	SNP	1.000	C	C	219825154	G	C	219825154	2	2	147	1	0	0	0	0	0	0	0	1	3149	1277	45	1		1	CDK5R2	2	219825154	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	271597	219825154	23374219	210	23464										
CCDC108	255101	genome.wustl.edu	37	chr2	219900337	219900337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agatgaccctcttgttcactCtctcctgcttctttggggag	9	12	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219900337C>T	ENST00000341552.5	-	5	490	c.407G>A	c.(406-408)aGa>aAa	p.R136K	CCDC108_ENST00000441968.1_Missense_Mutation_p.R136K|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71K|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71K|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125K|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71K|CCDC108_ENST00000453220.1_Missense_Mutation_p.R136K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547																																																	0													138	121	127					2																	219900337		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.407G>A	2.37:g.219900337C>T	ENSP00000340776:p.Arg136Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.R136K	ENST00000341552.5	37	c.407	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140582	0.21205	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.39	-4.38	0.03622	.	0.954027	0.08649	N	0.914332	T	0.04952	0.0133	N	0.00197	-1.87	0.09310	N	1	B;B;B	0.16603	0.004;0.018;0.001	B;B;B	0.10450	0.003;0.005;0.002	T	0.35649	-0.9780	10	0.10111	T	0.7	-0.0804	3.6771	0.08297	0.1037:0.2868:0.1037:0.5057	.	125;71;136	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	K	136;136;136;125;71;70;125;71;71;71;71	ENSP00000340776:R136K;ENSP00000413377:R136K;ENSP00000409117:R136K;ENSP00000386945:R125K;ENSP00000386258:R71K;ENSP00000393483:R125K;ENSP00000396836:R71K;ENSP00000295729:R71K;ENSP00000313807:R71K;ENSP00000413746:R71K	ENSP00000295729:R71K	R	-	2	0	CCDC108	219608581	0.024000	0.19004	0.015000	0.15790	0.225000	0.24961	-0.415000	0.07106	-0.680000	0.05211	-1.083000	0.02208	AGA	CCDC108	-	NULL		0.547	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219900337	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.108	T	T	219900337	C	T	219900337	3	4	147	1	0	0	0	0	1	0	0	0	2748	913	32	1	5642	1	CCDC108	2	219900337	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	75183	219900337	23299036	211	23465										
SPEG	10290	genome.wustl.edu	37	chr2	220329158	220329158	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcttgcccctctgacaggctGagaaaccgccagcccgtgcg	11	16	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220329158G>A	ENST00000312358.7	+	9	2841	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	SPEG_ENST00000396686.1_Silent_p.L54L|SPEG_ENST00000396688.1_Silent_p.L54L|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.L799L|SPEG_ENST00000396689.2_Silent_p.L54L|SPEG_ENST00000396695.2_Silent_p.L111L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	903	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGACAGGCTGAGAAACCGCC	0.682																																																	0													51	57	55					2																	220329158		2017	4181	6198	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2709G>A	2.37:g.220329158G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L111	ENST00000312358.7	37	c.333	CCDS42824.1	2																																																																																			SPEG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220329158	1	no_errors	ENST00000396695	ensembl	human	known	70_37	silent	SNP	1.000	A	A	220329158	G	A	220329158	2	1	147	1	0	0	0	0	0	0	0	1	15066	1277	45	1		1	SPEG	2	220329158	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	428821	220329158	22870215	212	23466										
OBSL1	23363	genome.wustl.edu	37	chr2	220419452	220419452	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccagaggccgcagcaccctCagctgcctcgctggccgggg	14	17	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220419452C>T	ENST00000404537.1	-	15	4676	c.4620G>A	c.(4618-4620)ctG>ctA	p.L1540L	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.L1448L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1540					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGCACCCTCAGCTGCCTCG	0.667																																																	0													9	11	11					2																	220419452		2087	4208	6295	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4620G>A	2.37:g.220419452C>T			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1540	ENST00000404537.1	37	c.4620	CCDS46520.1	2																																																																																			OBSL1	-	NULL		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220419452	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	silent	SNP	0.041	T	T	220419452	C	T	220419452	2	4	147	1	0	0	0	0	0	0	0	1	10837	813	29	1		1	OBSL1	2	220419452	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	90294	220419452	22779921	213	23467										
SLC4A3	6508	genome.wustl.edu	37	chr2	220502342	220502342	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctgccgttctacccccctGagggggccctggaggggtcc	15	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220502342G>T	ENST00000358055.3	+	17	3087	c.2575G>T	c.(2575-2577)Gag>Tag	p.E859*	SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.E859*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.E886*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.E886*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.E859*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	859	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTACCCCCCTGAGGGGGCCCT	0.637																																																	0													29	33	32					2																	220502342		2203	4300	6503	SO:0001587	stop_gained	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2575G>T	2.37:g.220502342G>T	ENSP00000350756:p.Glu859*		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E886*	ENST00000358055.3	37	c.2656	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.523230	0.98335	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	.	.	.	2.58	2.58	0.30949	.	0.752644	0.12116	N	0.498106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.7369	0.34534	0.0:0.0:1.0:0.0	.	.	.	.	X	859;859;886;886;122;859	.	ENSP00000273063:E886X	E	+	1	0	SLC4A3	220210586	0.829000	0.29322	0.944000	0.38274	0.619000	0.37552	3.216000	0.51176	1.434000	0.47414	0.551000	0.68910	GAG	SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220502342	1	no_errors	ENST00000273063	ensembl	human	known	70_37	nonsense	SNP	0.025	T	T	220502342	G	T	220502342	4	4	147	1	0	0	0	0	0	1	0	0	14685	1291	45	3	2718	3	SLC4A3	2	220502342	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	82890	220502342	22697031	214	23468										
SLC4A3	6508	genome.wustl.edu	37	chr2	220502408	220502408	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcagtgccctgccccccaccGagggcccccccagcccgagg	12	22	0	0	rs140581019		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220502408G>T	ENST00000358055.3	+	17	3153	c.2641G>T	c.(2641-2643)Gag>Tag	p.E881*	SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.E881*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.E908*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.E908*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.E881*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	881	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCCACCGAGGGCCCCCC	0.647																																																	0													51	43	46					2																	220502408		2203	4300	6503	SO:0001587	stop_gained	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2641G>T	2.37:g.220502408G>T	ENSP00000350756:p.Glu881*		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E908*	ENST00000358055.3	37	c.2722	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.059174	0.97246	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	.	.	.	4.54	3.66	0.41972	.	0.211480	0.23724	N	0.045192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	7.4383	0.27169	0.0856:0.0:0.7499:0.1645	.	.	.	.	X	881;881;908;908;141;881	.	ENSP00000273063:E908X	E	+	1	0	SLC4A3	220210652	0.996000	0.38824	0.981000	0.43875	0.295000	0.27426	2.442000	0.44873	1.286000	0.44565	0.551000	0.68910	GAG	SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220502408	1	no_errors	ENST00000273063	ensembl	human	known	70_37	nonsense	SNP	0.008	T	T	220502408	G	T	220502408	4	4	147	1	0	0	0	0	0	1	0	0	14685	1059	37	3	2784	3	SLC4A3	2	220502408	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	66	220502408	22696965	215	23469										
COL4A3	1285	genome.wustl.edu	37	chr2	228159698	228159698	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtcttccaggatttccagGatctcctggaccaatgggta	11	10	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:228159698G>C	ENST00000396578.3	+	40	3599	c.3437G>C	c.(3436-3438)gGa>gCa	p.G1146A	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1146	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGATTTCCAGGATCTCCTGGA	0.433																																																	0													123	125	125					2																	228159698		1824	4072	5896	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3437G>C	2.37:g.228159698G>C	ENSP00000379823:p.Gly1146Ala		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1146A	ENST00000396578.3	37	c.3437	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289327	0.59976	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99329	-5.75	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000016	D	0.99453	0.9806	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.72982	0.965;0.965;0.965;0.979	D	0.98781	1.0732	10	0.87932	D	0	.	16.957	0.86262	0.0:0.0:1.0:0.0	.	1146;1146;1146;1146	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	A	1146	ENSP00000379823:G1146A	ENSP00000323334:G1146A	G	+	2	0	COL4A3	227867942	1.000000	0.71417	0.740000	0.30986	0.983000	0.72400	6.407000	0.73280	2.750000	0.94351	0.563000	0.77884	GGA	COL4A3	-	pfam_Collagen		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	G	NM_000091		228159698	1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	0.727	C	C	228159698	G	C	228159698	3	2	147	1	0	0	0	0	1	0	0	0	3696	1174	41	1	3595	1	COL4A3	2	228159698	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7657290	228159698	15039675	216	23470										
SP100	6672	genome.wustl.edu	37	chr2	231311611	231311611	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggcctccaactaagtcttGaacaaggtaaaaatgacaga	8	9	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:231311611G>C	ENST00000264052.5	+	5	872	c.517G>C	c.(517-519)Gaa>Caa	p.E173Q	SP100_ENST00000341950.4_Missense_Mutation_p.E173Q|SP100_ENST00000340126.4_Missense_Mutation_p.E173Q|SP100_ENST00000409897.1_Missense_Mutation_p.E138Q|SP100_ENST00000409112.1_Missense_Mutation_p.E173Q|SP100_ENST00000409824.1_Missense_Mutation_p.E148Q|SP100_ENST00000409341.1_Missense_Mutation_p.E173Q|SP100_ENST00000427101.2_Missense_Mutation_p.E148Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	173					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTAAGTCTTGAACAAGGTAA	0.423																																																	0													70	63	65					2																	231311611		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.517G>C	2.37:g.231311611G>C	ENSP00000264052:p.Glu173Gln		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E173Q	ENST00000264052.5	37	c.517	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687699	0.29962	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;T;D;T;T;T	0.81908	2.08;1.98;0.67;1.98;1.98;-1.55;0.02;1.97;1.97	3.8	2.91	0.33838	.	.	.	.	.	D	0.82972	0.5153	L	0.27053	0.805	0.19300	N	0.999976	P;D;P;D;P;D;D;P	0.89917	0.865;0.997;0.647;1.0;0.881;0.999;0.999;0.865	P;D;B;D;B;D;D;P	0.75020	0.521;0.916;0.203;0.985;0.241;0.953;0.953;0.521	T	0.70252	-0.4923	9	0.45353	T	0.12	.	7.6721	0.28465	0.1158:0.0:0.8842:0.0	.	148;173;138;173;173;173;148;173	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	Q	173;148;148;148;173;173;173;173;138	ENSP00000264052:E173Q;ENSP00000399389:E148Q;ENSP00000391616:E148Q;ENSP00000387311:E148Q;ENSP00000386404:E173Q;ENSP00000386427:E173Q;ENSP00000343023:E173Q;ENSP00000342729:E173Q;ENSP00000386998:E138Q	ENSP00000264052:E173Q	E	+	1	0	SP100	231019855	0.035000	0.19736	0.629000	0.29254	0.282000	0.26991	0.723000	0.25939	1.171000	0.42768	0.655000	0.94253	GAA	SP100	-	NULL		0.423	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231311611	1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.654	C	C	231311611	G	C	231311611	3	2	147	1	0	0	0	0	1	0	0	0	14990	1291	45	1	535	1	SP100	2	231311611	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3151913	231311611	11887762	217	23471										
PRLH	51052	genome.wustl.edu	37	chr2	238475280	238475280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctggccctgcggggagctGcaagtcgtacccatcggcac	14	15	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:238475280G>A	ENST00000165524.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	22					autonomic nervous system development (GO:0048483)|energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		GCGGGGAGCTGCAAGTCGTAC	0.667																																																	0													45	37	39					2																	238475280		2198	4294	6492	SO:0001583	missense	51052			AB015419	CCDS2519.1	2q37.3	2013-02-28			ENSG00000071677	ENSG00000071677		"Endogenous ligands"	17945	protein-coding gene	gene with protein product		602663				9607765	Standard	NM_015893		Approved	PRH	uc010znl.2	P81277	OTTHUMG00000133296	ENST00000165524.1:c.64G>A	2.37:g.238475280G>A	ENSP00000165524:p.Ala22Thr			Missense_Mutation	SNP	NULL	p.A22T	ENST00000165524.1	37	c.64	CCDS2519.1	2	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.926804	0.00493	.	.	ENSG00000071677	ENST00000165524	.	.	.	3.99	0.569	0.17340	.	0.522925	0.14659	N	0.306053	T	0.14700	0.0355	.	.	.	0.09310	N	1	B	0.21753	0.06	B	0.17722	0.019	T	0.28681	-1.0036	8	0.09843	T	0.71	-18.135	4.2701	0.10782	0.2224:0.0:0.5979:0.1797	.	22	P81277	PRRP_HUMAN	T	22	.	ENSP00000165524:A22T	A	+	1	0	PRLH	238140019	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	0.191000	0.17076	0.007000	0.14760	0.552000	0.68991	GCA	PRLH	-	NULL		0.667	PRLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLH	HGNC	protein_coding	OTTHUMT00000257081.1	G	NM_015893		238475280	1	no_errors	ENST00000165524	ensembl	human	known	70_37	missense	SNP	0.001	A	A	238475280	G	A	238475280	3	1	147	1	0	0	0	0	1	0	0	0	12556	1319	46	4	66	4	PRLH	2	238475280	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7163669	238475280	4724093	218	23472										
SNED1	25992	genome.wustl.edu	37	chr2	241992704	241992704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagccgcatccgggtctgcCagccacacggtgtctggagt	13	15	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:241992704C>A	ENST00000310397.8	+	16	2218	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.Q740K|SNED1_ENST00000342631.6_Missense_Mutation_p.Q740K|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.Q740K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	740	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCGGGTCTGCCAGCCACACGG	0.687																																																	0													40	46	44					2																	241992704		1959	4141	6100	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2218C>A	2.37:g.241992704C>A	ENSP00000308893:p.Gln740Lys		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.Q740K	ENST00000310397.8	37	c.2218	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682124	0.29872	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.16	0.867	0.19085	Complement control module (1);Sushi/SCR/CCP (2);	0.284492	0.24633	N	0.036867	T	0.17916	0.0430	M	0.64080	1.96	0.24585	N	0.993852	B	0.31435	0.323	B	0.27380	0.079	T	0.26916	-1.0089	10	0.06236	T	0.91	.	7.6415	0.28296	0.3407:0.5694:0.0:0.0899	.	740	Q8TER0	SNED1_HUMAN	K	740	ENSP00000384871:Q740K;ENSP00000386007:Q740K;ENSP00000308893:Q740K;ENSP00000342992:Q740K	ENSP00000308893:Q740K	Q	+	1	0	SNED1	241641377	0.940000	0.31905	0.935000	0.37517	0.082000	0.17680	0.690000	0.25451	0.738000	0.32606	0.563000	0.77884	CAG	SNED1	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.687	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	C	XM_059482		241992704	1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	0.837	A	A	241992704	C	A	241992704	3	1	147	1	0	0	0	0	1	0	0	0	14875	595	21	4	2280	4	SNED1	2	241992704	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3517424	241992704	1206669	219	23473										
CHL1	10752	genome.wustl.edu	37	chr3	369956	369956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaacgaggggcacatatctCactttcaagggaaataccgc	9	11	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:369956C>T	ENST00000256509.2	+	5	946	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H102Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCACATATCTCACTTTCAAGG	0.403																																																	0													128	127	127					3																	369956		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.304C>T	3.37:g.369956C>T	ENSP00000256509:p.His102Tyr		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H102Y	ENST00000256509.2	37	c.304	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894994	0.72639	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.66995	1.11;1.11;-0.24	5.02	4.09	0.47781	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188254	0.47093	D	0.000241	T	0.67896	0.2942	L	0.49455	1.56	0.28960	N	0.889899	P;P;P	0.49696	0.859;0.859;0.927	P;P;P	0.54026	0.74;0.74;0.561	T	0.65158	-0.6236	10	0.72032	D	0.01	.	7.6626	0.28413	0.2377:0.6159:0.1464:0.0	.	102;102;102	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	Y	102	ENSP00000256509:H102Y;ENSP00000380628:H102Y;ENSP00000397445:H102Y	ENSP00000256509:H102Y	H	+	1	0	CHL1	344956	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.573000	0.53856	2.329000	0.79093	0.655000	0.94253	CAC	CHL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.403	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	C	NM_006614		369956	1	no_errors	ENST00000256509	ensembl	human	known	70_37	missense	SNP	0.970	T	T	369956	C	T	369956	3	4	147	1	0	0	0	0	1	0	0	0	3354	826	29	1	314	1	CHL1	3	369956	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09		369956	197652474	220	23474										
CHL1	10752	genome.wustl.edu	37	chr3	384667	384667	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttccgtttttttatttcagTaaagcatgctaatgactcaa	5	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:384667T>G	ENST00000256509.2	+	8	1322	c.680T>G	c.(679-681)tTa>tGa	p.L227*	CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTATTTCAGTAAAGCATGCT	0.333																																																	0													178	164	169					3																	384667		2203	4300	6503	SO:0001630	splice_region_variant	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.680-1T>G	3.37:g.384667T>G			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L227*	ENST00000256509.2	37	c.680	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	T	43	10.250940	0.99368	.	.	ENSG00000134121	ENST00000256509	.	.	.	5.32	5.32	0.75619	.	0.559818	0.17588	N	0.168869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.446	0.38697	0.0:0.0804:0.0:0.9196	.	.	.	.	X	227	.	.	L	+	2	0	CHL1	359667	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.454000	0.44979	2.130000	0.65690	0.533000	0.62120	TTA	CHL1	-	NULL		0.333	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	T	NM_006614	Nonsense_Mutation	384667	1	no_errors	ENST00000256509	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	384667	T	G	384667	5	3	147	1	0	0	0	0	0	0	1	0	3354	1652	57	5	702	5	CHL1	3	384667	Splice_Site	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	14711	384667	197637763	221	23475										
ITPR1	3708	genome.wustl.edu	37	chr3	4847939	4847939	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctttgtccatgaattcttCtacagtctgctggtgagtac	8	10	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:4847939C>T	ENST00000443694.2	+	52	7215	c.7215C>T	c.(7213-7215)ttC>ttT	p.F2405F	ITPR1_ENST00000302640.8_Silent_p.F2405F|ITPR1_ENST00000354582.6_Silent_p.F2405F|ITPR1_ENST00000357086.4_Silent_p.F2372F|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.F2357F|ITPR1_ENST00000544951.1_Silent_p.F383F|ITPR1_ENST00000423119.2_Silent_p.F2372F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2420					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATGAATTCTTCTACAGTCTGC	0.458																																																	0													147	135	139					3																	4847939		1928	4148	6076	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7215C>T	3.37:g.4847939C>T			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F2405	ENST00000443694.2	37	c.7215	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ion_trans_dom		0.458	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	C	NM_002222		4847939	1	no_errors	ENST00000302640	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4847939	C	T	4847939	2	4	147	1	0	0	0	0	0	0	0	1	7940	912	32	1		1	ITPR1	3	4847939	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4463272	4847939	193174491	222	23476										
GRM7	2917	genome.wustl.edu	37	chr3	6903211	6903211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccgcactcaatccggatcGagggggacgtcaccctcggg	13	16	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:6903211G>A	ENST00000357716.4	+	1	410	c.136G>A	c.(136-138)Gag>Aag	p.E46K	GRM7_ENST00000403881.1_Missense_Mutation_p.E46K|GRM7_ENST00000486284.1_Missense_Mutation_p.E46K|GRM7_ENST00000402647.2_Missense_Mutation_p.E46K|GRM7_ENST00000389336.4_Missense_Mutation_p.E46K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	46					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AATCCGGATCGAGGGGGACGT	0.682																																																	0													12	13	13					3																	6903211		2199	4297	6496	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.136G>A	3.37:g.6903211G>A	ENSP00000350348:p.Glu46Lys		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E46K	ENST00000357716.4	37	c.136	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060067	0.76074	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.66287	0.2774	L	0.38733	1.17	0.51012	D	0.999904	P;P;B	0.50710	0.938;0.897;0.194	B;B;B	0.33454	0.164;0.079;0.091	T	0.70718	-0.4795	10	0.40728	T	0.16	.	17.7009	0.88294	0.0:0.0:1.0:0.0	.	46;46;46	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	K	46	ENSP00000350348:E46K;ENSP00000417536:E46K;ENSP00000373987:E46K;ENSP00000385664:E46K;ENSP00000384585:E46K	ENSP00000350348:E46K	E	+	1	0	GRM7	6878211	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.728000	0.98792	2.503000	0.84419	0.557000	0.71058	GAG	GRM7	-	prints_GPCR_3		0.682	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	G	NM_000844		6903211	1	no_errors	ENST00000402647	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6903211	G	A	6903211	3	1	147	1	0	0	0	0	1	0	0	0	6822	1059	37	1	138	1	GRM7	3	6903211	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2055272	6903211	191119219	223	23477										
RPUSD3	285367	genome.wustl.edu	37	chr3	9879801	9879801	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctggccctggtgcctgggaGaaggagccgatgtaggtgga	18	9	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:9879801G>C	ENST00000383820.5	-	9	956	c.955C>G	c.(955-957)Ctc>Gtc	p.L319V	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_3'UTR|RPUSD3_ENST00000433535.2_Missense_Mutation_p.L304V	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	319					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GTGCCTGGGAGAAGGAGCCGA	0.647																																																	0													41	41	41					3																	9879801		2203	4300	6503	SO:0001583	missense	285367			BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.955C>G	3.37:g.9879801G>C	ENSP00000373331:p.Leu319Val		B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.L319V	ENST00000383820.5	37	c.955	CCDS2586.2	3	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320670	0.60634	.	.	ENSG00000156990	ENST00000433535;ENST00000383820	T;T	0.32988	1.43;1.43	5.11	4.23	0.50019	Pseudouridine synthase, catalytic domain (1);	0.134911	0.51477	D	0.000095	T	0.51381	0.1671	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.65443	0.935;0.896	T	0.55036	-0.8203	10	0.72032	D	0.01	.	12.4546	0.55697	0.0:0.0:0.6953:0.3047	.	304;319	Q6P087-2;Q6P087	.;RUSD3_HUMAN	V	304;319	ENSP00000398921:L304V;ENSP00000373331:L319V	ENSP00000373331:L319V	L	-	1	0	RPUSD3	9854801	1.000000	0.71417	0.866000	0.34008	0.879000	0.50718	2.241000	0.43097	1.125000	0.41998	-0.324000	0.08512	CTC	RPUSD3	-	superfamily_PsdUridine_synth_cat_dom		0.647	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	HGNC	protein_coding	OTTHUMT00000250238.1	G	NM_173659		9879801	-1	no_errors	ENST00000383820	ensembl	human	known	70_37	missense	SNP	0.913	C	C	9879801	G	C	9879801	3	2	147	1	0	0	0	0	1	0	0	0	13698	942	33	1	104	1	RPUSD3	3	9879801	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2976590	9879801	188142629	224	23478										
TATDN2	9797	genome.wustl.edu	37	chr3	10311955	10311955	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttccggagccttcttccttCaccaccgactatgtcatgta	7	14	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:10311955C>T	ENST00000287652.4	+	4	2140	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	TATDN2_ENST00000448281.2_Silent_p.F363F|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	363					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTCTTCCTTCACCACCGACT	0.527																																																	0													166	160	162					3																	10311955		2203	4300	6503	SO:0001819	synonymous_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1089C>T	3.37:g.10311955C>T			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.F363	ENST00000287652.4	37	c.1089	CCDS33698.1	3																																																																																			TATDN2	-	NULL		0.527	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	C	XM_376203		10311955	1	no_errors	ENST00000287652	ensembl	human	known	70_37	silent	SNP	0.011	T	T	10311955	C	T	10311955	2	4	147	1	0	0	0	0	0	0	0	1	15622	825	29	1		1	TATDN2	3	10311955	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	432154	10311955	187710475	225	23479										
ZFYVE20	64145	genome.wustl.edu	37	chr3	15116161	15116161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtctgctgctggtcatactCgtcctgcagctgccgcaggt	12	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:15116161C>T	ENST00000253699.3	-	14	2096	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E495K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	495	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGGTCATACTCGTCCTGCAGC	0.612																																																	0													81	79	80					3																	15116161		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1483G>A	3.37:g.15116161C>T	ENSP00000253699:p.Glu495Lys		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E495K	ENST00000253699.3	37	c.1483	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.741757	0.96873	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.51071	0.72;0.72	5.89	5.89	0.94794	.	0.048041	0.85682	D	0.000000	T	0.64746	0.2626	M	0.77313	2.365	0.80722	D	1	D	0.67145	0.996	P	0.52481	0.7	T	0.68334	-0.5436	10	0.72032	D	0.01	-20.0693	20.2566	0.98424	0.0:1.0:0.0:0.0	.	495	Q9H1K0	RBNS5_HUMAN	K	495	ENSP00000253699:E495K;ENSP00000422551:E495K	ENSP00000253699:E495K	E	-	1	0	ZFYVE20	15091165	1.000000	0.71417	0.964000	0.40570	0.834000	0.47266	7.482000	0.81143	2.793000	0.96121	0.561000	0.74099	GAG	ZFYVE20	-	pfam_Rbsn		0.612	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	C	NM_022340		15116161	-1	no_errors	ENST00000253699	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15116161	C	T	15116161	3	4	147	1	0	0	0	0	1	0	0	0	17696	893	31	1	875	1	ZFYVE20	3	15116161	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4804206	15116161	182906269	226	23480										
TMPPE	643853	genome.wustl.edu	37	chr3	33134488	33134488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggagataggctgctacgttCaaggggaagatctgcccagc	14	9	2	2	rs371574640		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:33134488C>G	ENST00000342462.4	-	2	1390	c.1200G>C	c.(1198-1200)ttG>ttC	p.L400F	GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.L263F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	400						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CTGCTACGTTCAAGGGGAAGA	0.562																																																	0													112	105	107					3																	33134488		2203	4300	6503	SO:0001583	missense	643853			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1200G>C	3.37:g.33134488C>G	ENSP00000343398:p.Leu400Phe		B2RNG5|Q6ZRG1	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.L400F	ENST00000342462.4	37	c.1200	CCDS33732.1	3	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894144	0.17613	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	6.06	6.06	0.98353	.	0.118768	0.33382	N	0.004979	T	0.19248	0.0462	N	0.04090	-0.28	0.31234	N	0.695957	B	0.11235	0.004	B	0.12837	0.008	T	0.09662	-1.0664	9	0.02654	T	1	-3.7199	13.0005	0.58672	0.0:0.9244:0.0:0.0756	.	400	Q6ZT21	TMPPE_HUMAN	F	263;400	.	ENSP00000343398:L400F	L	-	3	2	TMPPE	33109492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	2.871000	0.98454	0.655000	0.94253	TTG	TMPPE	-	NULL		0.562	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPPE	HGNC	protein_coding	OTTHUMT00000341566.1	C	NM_001039770		33134488	-1	no_errors	ENST00000342462	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33134488	C	G	33134488	3	3	147	1	0	0	0	0	1	0	0	0	16268	825	29	1	165	1	TMPPE	3	33134488	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	18018327	33134488	164887942	227	23481										
DLEC1	9940	genome.wustl.edu	37	chr3	38136487	38136487	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccgacaaggagactgccttCtccatcatgcccagaaaggg	10	14	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38136487C>A	ENST00000308059.6	+	13	2058	c.2037C>A	c.(2035-2037)ttC>ttA	p.F679L	DLEC1_ENST00000346219.3_Missense_Mutation_p.F679L|DLEC1_ENST00000452631.2_Missense_Mutation_p.F679L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGACTGCCTTCTCCATCATGC	0.537																																																	0													85	92	90					3																	38136487		2045	4200	6245	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2037C>A	3.37:g.38136487C>A	ENSP00000308597:p.Phe679Leu			Missense_Mutation	SNP	superfamily_PapD-like	p.F679L	ENST00000308059.6	37	c.2037	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744989	0.69418	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.20069	2.11;2.1;2.34	5.39	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.77820	2.39	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.40757	-0.9546	10	0.56958	D	0.05	-23.8158	10.2894	0.43586	0.0:0.8366:0.0:0.1634	.	679;679;679	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	L	679	ENSP00000308597:F679L;ENSP00000315914:F679L;ENSP00000410427:F679L	ENSP00000308597:F679L	F	+	3	2	DLEC1	38111491	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.142000	0.58044	1.256000	0.44068	0.655000	0.94253	TTC	DLEC1	-	NULL		0.537	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38136487	1	no_errors	ENST00000346219	ensembl	human	known	70_37	missense	SNP	0.999	A	A	38136487	C	A	38136487	3	1	147	1	0	0	0	0	1	0	0	0	4562	912	32	3	2087	3	DLEC1	3	38136487	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5001999	38136487	159885943	228	23482										
DLEC1	9940	genome.wustl.edu	37	chr3	38136538	38136538	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccacacagaccacgagttCatcctgagcttttctcctca	5	17	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38136538C>T	ENST00000308059.6	+	13	2109	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	DLEC1_ENST00000346219.3_Silent_p.F696F|DLEC1_ENST00000452631.2_Silent_p.F696F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCACGAGTTCATCCTGAGCT	0.517																																																	0													80	87	85					3																	38136538		2018	4184	6202	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2088C>T	3.37:g.38136538C>T				Silent	SNP	superfamily_PapD-like	p.F696	ENST00000308059.6	37	c.2088	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.517	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38136538	1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38136538	C	T	38136538	2	4	147	1	0	0	0	0	0	0	0	1	4562	825	29	1		1	DLEC1	3	38136538	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	51	38136538	159885892	229	23483										
OXSR1	9943	genome.wustl.edu	37	chr3	38240323	38240323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagaagtactggaagggctgGaatatctgcataaaaatgga	13	4	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38240323G>A	ENST00000446845.1	+	4	775	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	OXSR1_ENST00000311806.3_Missense_Mutation_p.E135K					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAAGGGCTGGAATATCTGCA	0.403																																																	0													162	149	154					3																	38240323		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.403G>A	3.37:g.38240323G>A	ENSP00000415851:p.Glu135Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E135K	ENST00000446845.1	37	c.403		3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947357	0.92593	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.65549	-0.16;-0.16	4.58	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049009	0.85682	D	0.000000	T	0.61261	0.2333	N	0.12569	0.235	0.80722	D	1	P;P	0.48911	0.917;0.861	P;P	0.58013	0.831;0.614	T	0.69573	-0.5109	10	0.72032	D	0.01	-19.2803	16.7656	0.85523	0.0:0.0:1.0:0.0	.	135;135	C9JIG9;O95747	.;OXSR1_HUMAN	K	135	ENSP00000415851:E135K;ENSP00000311713:E135K	ENSP00000311713:E135K	E	+	1	0	OXSR1	38215327	1.000000	0.71417	0.988000	0.46212	0.731000	0.41821	9.072000	0.93986	2.251000	0.74343	0.563000	0.77884	GAA	OXSR1	-	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		0.403	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	G	NM_005109		38240323	1	no_errors	ENST00000311806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38240323	G	A	38240323	3	1	147	1	0	0	0	0	1	0	0	0	11360	1175	41	1	417	1	OXSR1	3	38240323	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	103785	38240323	159782107	230	23484										
ACVR2B	93	genome.wustl.edu	37	chr3	38519415	38519415	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctgctgtgaaggcaacttCtgcaacgaacgcttcactca	9	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38519415C>T	ENST00000352511.4	+	3	796	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	108					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AAGGCAACTTCTGCAACGAAC	0.582																																																	0													135	133	134					3																	38519415		2203	4300	6503	SO:0001819	synonymous_variant	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.324C>T	3.37:g.38519415C>T			Q4VAV0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.F108	ENST00000352511.4	37	c.324	CCDS2679.1	3																																																																																			ACVR2B	-	pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt		0.582	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	HGNC	protein_coding	OTTHUMT00000254059.3	C	NM_001106		38519415	1	no_errors	ENST00000352511	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38519415	C	T	38519415	2	4	147	1	0	0	0	0	0	0	0	1	224	912	32	1		1	ACVR2B	3	38519415	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	279092	38519415	159503015	231	23485										
SCN10A	6336	genome.wustl.edu	37	chr3	38781028	38781028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcggaagctccgcagcacaGacaggcttcccttcttggcc	11	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38781028G>C	ENST00000449082.2	-	14	2257	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	753					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCGCAGCACAGACAGGCTTCC	0.512																																																	0													62	57	59					3																	38781028		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2258C>G	3.37:g.38781028G>C	ENSP00000390600:p.Ser753Cys		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.S753C	ENST00000449082.2	37	c.2258	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347340	0.82022	.	.	ENSG00000185313	ENST00000449082	D	0.97811	-4.55	4.19	4.19	0.49359	Ion transport (1);	0.377447	0.26704	N	0.022928	D	0.98890	0.9624	H	0.96269	3.795	0.48975	D	0.999737	D	0.56746	0.977	P	0.56398	0.797	D	0.99814	1.1043	10	0.87932	D	0	.	16.7073	0.85375	0.0:0.0:1.0:0.0	.	753	Q9Y5Y9	SCNAA_HUMAN	C	753	ENSP00000390600:S753C	ENSP00000390600:S753C	S	-	2	0	SCN10A	38756032	1.000000	0.71417	0.764000	0.31436	0.974000	0.67602	6.432000	0.73400	2.174000	0.68829	0.655000	0.94253	TCT	SCN10A	-	pfam_Ion_trans_dom		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	G	NM_006514		38781028	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38781028	G	C	38781028	3	2	147	1	0	0	0	0	1	0	0	0	13942	942	33	1	3668	1	SCN10A	3	38781028	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	261613	38781028	159241402	232	23486										
ZNF620	253639	genome.wustl.edu	37	chr3	40558125	40558125	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgtggaaaacgattaagctCcaacacagccttgactcagc	9	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:40558125C>G	ENST00000314529.6	+	5	1189	c.1040C>G	c.(1039-1041)tCc>tGc	p.S347C	ZNF620_ENST00000418905.1_Missense_Mutation_p.S233C	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGATTAAGCTCCAACACAGCC	0.443																																																	0													81	78	79					3																	40558125		2203	4300	6503	SO:0001583	missense	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"Zinc fingers, C2H2-type", "-"	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1040C>G	3.37:g.40558125C>G	ENSP00000322265:p.Ser347Cys		Q8N223	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S347C	ENST00000314529.6	37	c.1040	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272117	0.01421	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.36699	1.24;1.24	2.59	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	N	0.16478	0.41	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.11591	-1.0581	8	.	.	.	.	3.4224	0.07398	0.0:0.5631:0.2765:0.1604	.	347	Q6ZNG0	ZN620_HUMAN	C	347;233	ENSP00000322265:S347C;ENSP00000391472:S233C	.	S	+	2	0	ZNF620	40533129	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-4.980000	0.00163	1.468000	0.48064	0.585000	0.79938	TCC	ZNF620	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	C	XM_171060		40558125	1	no_errors	ENST00000314529	ensembl	human	known	70_37	missense	SNP	0.000	G	G	40558125	C	G	40558125	3	3	147	1	0	0	0	0	1	0	0	0	18074	855	30	1	1054	1	ZNF620	3	40558125	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1777097	40558125	157464305	233	23487										
CTNNB1	1499	genome.wustl.edu	37	chr3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctggactctggaatccattCtggtgccactaccacagctc	8	15	2	0	rs121913416|rs121913403		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)											93	78	83					3																	41266113		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.110C>G	3.37:g.41266113C>G	ENSP00000344456:p.Ser37Cys		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S37C	ENST00000349496.5	37	c.110	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407996	0.83340	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	C	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30C;ENSP00000385604:S37C;ENSP00000412219:S37C;ENSP00000379486:S37C;ENSP00000344456:S37C;ENSP00000411226:S30C;ENSP00000379488:S37C;ENSP00000409302:S37C;ENSP00000401599:S37C	ENSP00000344456:S37C	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT	CTNNB1	-	NULL		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	C	NM_001098210		41266113	1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41266113	C	G	41266113	3	3	147	1	0	0	0	0	1	0	0	0	4021	913	32	1	116	1	CTNNB1	3	41266113	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	707988	41266113	156756317	234	23488										
CTNNB1	1499	genome.wustl.edu	37	chr3	41277973	41277973	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctgacagagttacttcactCtaggaatgaaggtgtgggta	12	6	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:41277973C>G	ENST00000349496.5	+	12	2217	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S646C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S639C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S646C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S646C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	646					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S646F(1)|p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTACTTCACTCTAGGAATGAA	0.473		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	2	Substitution - Missense(1)|Complex - deletion inframe(1)	endometrium(1)|kidney(1)											92	96	95					3																	41277973		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1937C>G	3.37:g.41277973C>G	ENSP00000344456:p.Ser646Cys		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S646C	ENST00000349496.5	37	c.1937	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331812	0.60853	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.096661	0.64402	D	0.000001	T	0.73644	0.3613	M	0.81942	2.565	0.80722	D	1	P;B;P	0.41393	0.748;0.039;0.748	B;B;B	0.41440	0.241;0.106;0.357	T	0.77840	-0.2438	10	0.66056	D	0.02	-14.0695	19.8246	0.96612	0.0:1.0:0.0:0.0	.	574;81;646	B4DSW9;P35222-2;P35222	.;.;CTNB1_HUMAN	C	646;646;646;639;646	ENSP00000385604:S646C;ENSP00000379486:S646C;ENSP00000344456:S646C;ENSP00000411226:S639C;ENSP00000379488:S646C	ENSP00000344456:S646C	S	+	2	0	CTNNB1	41252977	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	6.089000	0.71384	2.676000	0.91093	0.563000	0.77884	TCT	CTNNB1	-	superfamily_ARM-type_fold,smart_Armadillo		0.473	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	C	NM_001098210		41277973	1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	0.999	G	G	41277973	C	G	41277973	3	3	147	1	0	0	0	0	1	0	0	0	4021	913	32	1	1979	1	CTNNB1	3	41277973	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	11860	41277973	156744457	235	23489										
C3orf23	285343	genome.wustl.edu	37	chr3	44437913	44437913	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggcagaggagctggggcatCgcccaccgctgtagccagct	15	13	0	1	rs145867678		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:44437913C>T	ENST00000342649.4	+	7	1144	c.717C>T	c.(715-717)atC>atT	p.I239I	TCAIM_ENST00000417237.1_Silent_p.I239I	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	239						mitochondrion (GO:0005739)											GCTGGGGCATCGCCCACCGCT	0.488																																																	0								C		1,4405		0,1,2202	40	37	38		717	-7.5	0	3	dbSNP_134	38	0,8600		0,0,4300	no	coding-synonymous	C3orf23	NM_173826.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		239/497	44437913	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.717C>T	3.37:g.44437913C>T			A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	NULL	p.I239	ENST00000342649.4	37	c.717	CCDS2712.1	3																																																																																			TCAIM	-	NULL		0.488	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	C	NM_173826		44437913	1	no_errors	ENST00000342649	ensembl	human	known	70_37	silent	SNP	0.012	T	T	44437913	C	T	44437913	2	4	147	1	0	0	0	0	0	0	0	1	2221	874	31	1		1	C3orf23	3	44437913	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3159940	44437913	153584517	236	23490										
XCR1	2829	genome.wustl.edu	37	chr3	46063162	46063162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtctcccagcacccagcccCagtggtatggggagatccac	11	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:46063162C>T	ENST00000309285.3	-	2	634	c.278G>A	c.(277-279)tGg>tAg	p.W93*	XCR1_ENST00000542109.1_Nonsense_Mutation_p.W93*	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	93					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACCCAGCCCCAGTGGTATGG	0.542																																																	0													93	100	98					3																	46063162		2203	4300	6503	SO:0001587	stop_gained	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.278G>A	3.37:g.46063162C>T	ENSP00000310405:p.Trp93*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.W93*	ENST00000309285.3	37	c.278	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549534	0.65311	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	.	.	.	5.14	0.434	0.16539	.	1.213010	0.05403	N	0.541074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	1.2285	0.01938	0.4979:0.1915:0.1476:0.163	.	.	.	.	X	93	.	ENSP00000310405:W93X	W	-	2	0	XCR1	46038166	0.000000	0.05858	0.993000	0.49108	0.870000	0.49936	-1.252000	0.02880	0.481000	0.27557	0.650000	0.86243	TGG	XCR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	C			46063162	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	46063162	C	T	46063162	4	4	147	1	0	0	0	0	0	1	0	0	17456	595	21	4	727	4	XCR1	3	46063162	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1625249	46063162	151959268	237	23491										
XCR1	2829	genome.wustl.edu	37	chr3	46063418	46063418	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtaaaaaaaggtggtgctctCtgggttgcctgaggactcca	13	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:46063418C>G	ENST00000309285.3	-	2	378	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	XCR1_ENST00000542109.1_Missense_Mutation_p.E8Q	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	8					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGTGCTCTCTGGGTTGCCT	0.527																																																	0													57	61	60					3																	46063418		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.22G>C	3.37:g.46063418C>G	ENSP00000310405:p.Glu8Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.E8Q	ENST00000309285.3	37	c.22	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642576	0.47153	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.68025	-0.3;-0.3	4.25	1.05	0.20165	.	2.443350	0.01375	N	0.012709	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P	0.38978	0.652	B	0.35813	0.211	T	0.52238	-0.8602	10	0.15499	T	0.54	.	1.8736	0.03214	0.2089:0.468:0.2026:0.1204	.	8	P46094	XCR1_HUMAN	Q	8	ENSP00000310405:E8Q;ENSP00000438119:E8Q	ENSP00000310405:E8Q	E	-	1	0	XCR1	46038422	0.000000	0.05858	0.048000	0.18961	0.009000	0.06853	0.006000	0.13152	1.928000	0.55862	0.650000	0.86243	GAG	XCR1	-	NULL		0.527	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	C			46063418	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	missense	SNP	0.000	G	G	46063418	C	G	46063418	3	3	147	1	0	0	0	0	1	0	0	0	17456	922	32	1	983	1	XCR1	3	46063418	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	256	46063418	151959012	238	23492										
RHOA	387	genome.wustl.edu	37	chr3	49405880	49405880	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctaaactatcagggctgtcGatggaaaaacacatcagtat	8	9	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:49405880G>A	ENST00000418115.1	-	3	642	c.258C>T	c.(256-258)atC>atT	p.I86I	RHOA_ENST00000422781.1_Silent_p.I86I|RHOA_ENST00000454011.2_Intron|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	86					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGGGCTGTCGATGGAAAAAC	0.502																																																	0													178	169	172					3																	49405880		2203	4300	6503	SO:0001819	synonymous_variant	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.258C>T	3.37:g.49405880G>A			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I86	ENST00000418115.1	37	c.258	CCDS2795.1	3																																																																																			RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.502	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	G	NM_001664		49405880	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	silent	SNP	0.859	A	A	49405880	G	A	49405880	2	1	147	1	0	0	0	0	0	0	0	1	13361	1048	37	1		1	RHOA	3	49405880	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3342462	49405880	148616550	239	23493										
DAG1	1605	genome.wustl.edu	37	chr3	49568587	49568587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgacctcctgcacaggatgCggagcttctcagaagtagag	12	10	1	3	rs562046526		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:49568587C>T	ENST00000539901.1	+	3	1201	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	DAG1_ENST00000541308.1_Missense_Mutation_p.R215W|DAG1_ENST00000515359.2_Missense_Mutation_p.R215W|DAG1_ENST00000308775.2_Missense_Mutation_p.R215W|DAG1_ENST00000538711.1_Missense_Mutation_p.R215W|DAG1_ENST00000545947.1_Missense_Mutation_p.R215W	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	215	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCACAGGATGCGGAGCTTCTC	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		23010	0		0	False		,,,				2504	0																0													72	76	74					3																	49568587		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.643C>T	3.37:g.49568587C>T	ENSP00000439334:p.Arg215Trp		A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.R215W	ENST00000539901.1	37	c.643	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553298	0.45487	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.92	4.98	0.66077	.	0.351548	0.33650	N	0.004698	T	0.72228	0.3434	L	0.51422	1.61	0.39956	D	0.974603	D	0.54397	0.966	B	0.42916	0.402	T	0.76950	-0.2769	10	0.66056	D	0.02	-1.1784	11.2524	0.49034	0.3412:0.6588:0.0:0.0	.	215	Q14118	DAG1_HUMAN	W	215;215;215;215;215;215;14	ENSP00000440705:R215W;ENSP00000312435:R215W;ENSP00000442600:R215W;ENSP00000440590:R215W;ENSP00000439334:R215W;ENSP00000438421:R215W	ENSP00000312435:R215W	R	+	1	2	DAG1	49543591	1.000000	0.71417	0.985000	0.45067	0.915000	0.54546	5.784000	0.68990	2.804000	0.96469	0.655000	0.94253	CGG	DAG1	-	NULL		0.507	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	C			49568587	1	no_errors	ENST00000308775	ensembl	human	known	70_37	missense	SNP	0.991	T	T	49568587	C	T	49568587	3	4	147	1	0	0	0	0	1	0	0	0	4230	759	27	2	649	2	DAG1	3	49568587	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	162707	49568587	148453843	240	23494										
ZMYND10	51364	genome.wustl.edu	37	chr3	50380604	50380604	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagggccttcagtgcaatctCaaattccatcagctctgcct	8	13	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:50380604C>G	ENST00000231749.3	-	6	1816	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.E182Q	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	182					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGTGCAATCTCAAATTCCATC	0.597										TSP Lung(30;0.18)																																							0													164	141	149					3																	50380604		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.544G>C	3.37:g.50380604C>G	ENSP00000231749:p.Glu182Gln		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.E182Q	ENST00000231749.3	37	c.544	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610112	0.87258	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.32023	1.47;1.47;1.47	5.34	5.34	0.76211	.	0.094256	0.64402	D	0.000001	T	0.39989	0.1099	L	0.42686	1.345	0.54753	D	0.999986	D;P	0.53151	0.958;0.867	P;B	0.51487	0.671;0.323	T	0.05566	-1.0877	10	0.35671	T	0.21	-28.5482	19.0525	0.93051	0.0:1.0:0.0:0.0	.	182;182	O75800-2;O75800	.;ZMY10_HUMAN	Q	182;182;139	ENSP00000231749:E182Q;ENSP00000353289:E182Q;ENSP00000393687:E139Q	ENSP00000231749:E182Q	E	-	1	0	ZMYND10	50355608	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.922000	0.56462	2.516000	0.84829	0.561000	0.74099	GAG	ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	C	NM_015896		50380604	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50380604	C	G	50380604	3	3	147	1	0	0	0	0	1	0	0	0	17735	835	29	1	806	1	ZMYND10	3	50380604	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	812017	50380604	147641826	241	23495										
MAPKAPK3	7867	genome.wustl.edu	37	chr3	50684590	50684590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacagaccccactccacacgGcccgagtgctgcaggaggac	11	17	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:50684590G>A	ENST00000446044.1	+	12	1548	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.A318T	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	318	Autoinhibitory helix. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		ACTCCACACGGCCCGAGTGCT	0.602																																																	0													47	43	44					3																	50684590		2192	4291	6483	SO:0001583	missense	7867			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.952G>A	3.37:g.50684590G>A	ENSP00000396467:p.Ala318Thr		B5BU67	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A318T	ENST00000446044.1	37	c.952	CCDS2832.1	3	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342196	0.61073	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.48836	0.8;0.8;0.8	6.04	6.04	0.98038	Protein kinase-like domain (1);	0.127606	0.53938	D	0.000051	T	0.35422	0.0931	N	0.12471	0.22	0.50632	D	0.999885	B	0.17268	0.021	B	0.15484	0.013	T	0.07927	-1.0747	10	0.40728	T	0.16	-33.3334	20.1896	0.98226	0.0:0.0:1.0:0.0	.	318	Q16644	MAPK3_HUMAN	T	318	ENSP00000396467:A318T;ENSP00000410970:A318T;ENSP00000350639:A318T	ENSP00000350639:A318T	A	+	1	0	MAPKAPK3	50659594	0.694000	0.27738	0.998000	0.56505	0.652000	0.38707	2.494000	0.45329	2.873000	0.98535	0.561000	0.74099	GCC	MAPKAPK3	-	superfamily_Kinase-like_dom		0.602	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAPKAPK3	HGNC	protein_coding	OTTHUMT00000346237.1	G	NM_004635		50684590	1	no_errors	ENST00000357955	ensembl	human	known	70_37	missense	SNP	0.997	A	A	50684590	G	A	50684590	3	1	147	1	0	0	0	0	1	0	0	0	9313	1203	42	4	986	4	MAPKAPK3	3	50684590	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	303986	50684590	147337840	242	23496										
MANF	7873	genome.wustl.edu	37	chr3	51423719	51423719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caccagccactattgaaaacGaacttataaagttctgccgg	7	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:51423719G>C	ENST00000528157.1	+	2	471	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	59					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						TATTGAAAACGAACTTATAAA	0.478																																																	0													69	69	69					3																	51423719		1893	4123	6016	SO:0001583	missense	7873			M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"arginine-rich, mutated in early stage tumors"	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.175G>C	3.37:g.51423719G>C	ENSP00000432799:p.Glu59Gln		Q14CX4|Q86U67|Q96IS4	Missense_Mutation	SNP	pfam_Armet_prot,superfamily_Saposin-like	p.E59Q	ENST00000528157.1	37	c.175	CCDS46836.2	3	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428143	0.83667	.	.	ENSG00000145050	ENST00000528157;ENST00000273628	.	.	.	5.41	5.41	0.78517	.	0.051123	0.85682	D	0.000000	T	0.78162	0.4240	M	0.77313	2.365	0.54753	D	0.999984	P	0.50369	0.934	P	0.60886	0.88	T	0.75642	-0.3247	9	0.31617	T	0.26	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	59	P55145	MANF_HUMAN	Q	59;62	.	ENSP00000273628:E62Q	E	+	1	0	MANF	51398759	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	7.179000	0.77665	2.540000	0.85666	0.563000	0.77884	GAA	MANF	-	pfam_Armet_prot,superfamily_Saposin-like		0.478	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANF	HGNC	protein_coding	OTTHUMT00000346490.3	G	NM_006010		51423719	1	no_errors	ENST00000528157	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51423719	G	C	51423719	3	2	147	1	0	0	0	0	1	0	0	0	9246	1059	37	1	190	1	MANF	3	51423719	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	739129	51423719	146598711	243	23497										
RAD54L2	23132	genome.wustl.edu	37	chr3	51667945	51667945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcttcagaattggctggcaGagttcaacatgtggcttcca	10	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:51667945G>C	ENST00000409535.2	+	8	1161	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E40Q	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	346	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGCTGGCAGAGTTCAACAT	0.443																																																	0													111	116	115					3																	51667945		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1036G>C	3.37:g.51667945G>C	ENSP00000386520:p.Glu346Gln		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E346Q	ENST00000409535.2	37	c.1036	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.997874|4.997874	0.93227|0.93227	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.95377|.	-3.69;-3.69|.	5.38|5.38	5.38|5.38	0.77491|0.77491	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87645|0.87645	0.6229|0.6229	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91242|0.91242	0.5022|0.5022	10|5	0.87932|.	D|.	0|.	-18.1171|-18.1171	18.1254|18.1254	0.89584|0.89584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346|.	Q9Y4B4|.	ARIP4_HUMAN|.	Q|T	346;40|174	ENSP00000386520:E346Q;ENSP00000296477:E40Q|.	ENSP00000296477:E40Q|.	E|R	+|+	1|2	0|0	RAD54L2|RAD54L2	51642985|51642985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.837000|9.837000	0.99465|0.99465	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	GAG|AGA	RAD54L2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51667945	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51667945	G	C	51667945	3	2	147	1	0	0	0	0	1	0	0	0	13024	943	33	1	1062	1	RAD54L2	3	51667945	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	244226	51667945	146354485	244	23498										
DNAH1	25981	genome.wustl.edu	37	chr3	52397041	52397041	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacccgtggccatgatggttCcagattacgccatgatcact	10	12	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:52397041C>G	ENST00000420323.2	+	32	5386	c.5125C>G	c.(5125-5127)Cca>Gca	p.P1709A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1709	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATGATGGTTCCAGATTACGC	0.542																																																	0													195	199	197					3																	52397041		2128	4252	6380	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5125C>G	3.37:g.52397041C>G	ENSP00000401514:p.Pro1709Ala		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.P1709A	ENST00000420323.2	37	c.5125	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935416	0.92458	.	.	ENSG00000114841	ENST00000420323	T	0.53206	0.63	4.93	4.93	0.64822	.	0.000000	0.52532	D	0.000063	T	0.81678	0.4873	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89202	0.3558	10	0.87932	D	0	.	18.3189	0.90231	0.0:1.0:0.0:0.0	.	1709	C9JXH6	.	A	1709	ENSP00000401514:P1709A	ENSP00000401514:P1709A	P	+	1	0	DNAH1	52372081	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.651000	0.83577	2.574000	0.86865	0.655000	0.94253	CCA	DNAH1	-	NULL		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52397041	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52397041	C	G	52397041	3	3	147	1	0	0	0	0	1	0	0	0	4607	855	30	1	5247	1	DNAH1	3	52397041	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	729096	52397041	145625389	245	23499										
ACTR8	93973	genome.wustl.edu	37	chr3	53916116	53916116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttctccgtatcacccttctCagcctgggtcattatggccg	9	14	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:53916116C>G	ENST00000335754.3	-	1	113	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000482349.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	5					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCACCCTTCTCAGCCTGGGTC	0.682																																																	0													55	53	53					3																	53916116		1959	3735	5694	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.13G>C	3.37:g.53916116C>G	ENSP00000336842:p.Glu5Gln		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.E5Q	ENST00000335754.3	37	c.13	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817363	0.70912	.	.	ENSG00000113812	ENST00000335754	D	0.96830	-4.14	5.59	5.59	0.84812	.	0.256528	0.38663	N	0.001602	D	0.89563	0.6751	N	0.08118	0	0.80722	D	1	P	0.41673	0.759	B	0.32289	0.143	D	0.90820	0.4708	10	0.45353	T	0.12	-0.5254	16.3052	0.82844	0.0:1.0:0.0:0.0	.	5	Q9H981	ARP8_HUMAN	Q	5	ENSP00000336842:E5Q	ENSP00000336842:E5Q	E	-	1	0	ACTR8	53891156	1.000000	0.71417	0.996000	0.52242	0.369000	0.29798	5.759000	0.68785	2.636000	0.89361	0.655000	0.94253	GAG	ACTR8	-	NULL		0.682	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	C	NM_022899		53916116	-1	no_errors	ENST00000335754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53916116	C	G	53916116	3	3	147	1	0	0	0	0	1	0	0	0	217	835	29	1	1913	1	ACTR8	3	53916116	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1519075	53916116	144106314	246	23500										
PDHB	5162	genome.wustl.edu	37	chr3	58413856	58413856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcataaggcatagggacatCagcaccagtgacacgaacag	11	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:58413856C>T	ENST00000302746.6	-	10	1027	c.985G>A	c.(985-987)Gat>Aat	p.D329N	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000474765.1_Silent_p.*351*|PDHB_ENST00000485460.1_Missense_Mutation_p.D311N	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	329					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	ATAGGGACATCAGCACCAGTG	0.438																																																	0													78	72	74					3																	58413856		2203	4300	6503	SO:0001583	missense	5162				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.985G>A	3.37:g.58413856C>T	ENSP00000307241:p.Asp329Asn		B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.D329N	ENST00000302746.6	37	c.985	CCDS2890.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.860804	0.97036	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460	D;D;D	0.81659	-1.52;-1.52;-1.52	6.16	6.16	0.99307	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P;D	0.71674	0.559;0.854;0.998	P;P;D	0.68039	0.697;0.539;0.955	D	0.91732	0.5397	10	0.72032	D	0.01	-23.399	20.8598	0.99761	0.0:1.0:0.0:0.0	.	311;311;329	B4DDD7;P11177-2;P11177	.;.;ODPB_HUMAN	N	329;311;311	ENSP00000307241:D329N;ENSP00000373220:D311N;ENSP00000417267:D311N	ENSP00000307241:D329N	D	-	1	0	PDHB	58388896	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	7.456000	0.80751	2.937000	0.99478	0.650000	0.86243	GAT	PDHB	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.438	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHB	HGNC	protein_coding	OTTHUMT00000353558.1	C			58413856	-1	no_errors	ENST00000302746	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58413856	C	T	58413856	3	4	147	1	0	0	0	0	1	0	0	0	11690	826	29	1	98	1	PDHB	3	58413856	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4497740	58413856	139608574	247	23501										
CADPS	8618	genome.wustl.edu	37	chr3	62860378	62860378	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcctctcctcctcctctttCtgcagccgctccaactcttc	3	20	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:62860378C>G	ENST00000383710.4	-	1	676	c.327G>C	c.(325-327)caG>caC	p.Q109H	CADPS_ENST00000490353.2_Missense_Mutation_p.Q109H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q109H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q109H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	109					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		cctcctctttctgcagccgct	0.647																																																	0													47	37	40					3																	62860378		2160	4221	6381	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.327G>C	3.37:g.62860378C>G	ENSP00000373215:p.Gln109His		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q109H	ENST00000383710.4	37	c.327	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136427	0.37728	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	4.91	3.09	0.35607	.	0.491201	0.22078	N	0.064921	T	0.79015	0.4375	L	0.59436	1.845	0.37634	D	0.921771	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.75616	-0.3256	10	0.72032	D	0.01	.	10.7917	0.46436	0.0:0.8416:0.0:0.1584	.	109;109;109	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	H	109	ENSP00000373215:Q109H;ENSP00000350632:Q109H;ENSP00000283269:Q109H;ENSP00000418736:Q109H	ENSP00000283269:Q109H	Q	-	3	2	CADPS	62835418	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.598000	0.36740	0.468000	0.27243	-0.254000	0.11334	CAG	CADPS	-	NULL		0.647	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62860378	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62860378	C	G	62860378	3	3	147	1	0	0	0	0	1	0	0	0	2575	912	32	1	3927	1	CADPS	3	62860378	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4446522	62860378	135162052	248	23502										
MAGI1	9223	genome.wustl.edu	37	chr3	65415613	65415613	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcataggtctcttgcccattCacaataattggttctttatc	5	10	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:65415613C>T	ENST00000497477.2	-	12	1748	c.1749G>A	c.(1747-1749)gtG>gtA	p.V583V	MAGI1_ENST00000470990.1_5'Flank|MAGI1_ENST00000330909.8_Silent_p.V583V|MAGI1_ENST00000402939.2_Silent_p.V583V|MAGI1_ENST00000483466.1_Silent_p.V583V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	583					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTTGCCCATTCACAATAATTG	0.473																																																	0													137	125	129					3																	65415613		2203	4300	6503	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1749G>A	3.37:g.65415613C>T			A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.V583	ENST00000497477.2	37	c.1749		3																																																																																			MAGI1	-	NULL		0.473	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	C	NM_004742		65415613	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65415613	C	T	65415613	2	4	147	1	0	0	0	0	0	0	0	1	9213	813	29	1		1	MAGI1	3	65415613	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2555235	65415613	132606817	249	23503										
UBA3	9039	genome.wustl.edu	37	chr3	69124658	69124658	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtatctaacaagaactggaGagactgtaaagaatggaaag	11	4	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:69124658G>C	ENST00000361055.4	-	4	241	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.L49V|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	63	Interaction with UBE2M N-terminus.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGAACTGGAGAGACTGTAAA	0.343																																																	0													57	57	57					3																	69124658		2203	4300	6503	SO:0001583	missense	9039			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"Ubiquitin-like modifier activating enzymes"	12470	protein-coding gene	gene with protein product	"NEDD8-activating enzyme E1 catalytic subunit", "NEDD8-activating enzyme E1 subunit 2"	603172	"ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.187C>G	3.37:g.69124658G>C	ENSP00000354340:p.Leu63Val		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.L63V	ENST00000361055.4	37	c.187	CCDS2909.1	3	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956468	0.53293	.	.	ENSG00000144744	ENST00000361055;ENST00000349511	T;T	0.30182	1.54;1.54	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.59436	1.845	0.80722	D	1	P;P	0.37914	0.611;0.477	B;B	0.43103	0.408;0.231	T	0.06826	-1.0805	10	0.32370	T	0.25	-7.041	19.7734	0.96382	0.0:0.0:1.0:0.0	.	49;63	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	V	63;49	ENSP00000354340:L63V;ENSP00000340041:L49V	ENSP00000340041:L49V	L	-	1	0	UBA3	69207348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.361000	0.66092	2.684000	0.91462	0.563000	0.77884	CTC	UBA3	-	NULL		0.343	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA3	HGNC	protein_coding	OTTHUMT00000334839.1	G	NM_198195		69124658	-1	no_errors	ENST00000361055	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69124658	G	C	69124658	3	2	147	1	0	0	0	0	1	0	0	0	16860	942	33	1	1264	1	UBA3	3	69124658	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3709045	69124658	128897772	250	23504										
ARL6IP5	10550	genome.wustl.edu	37	chr3	69134213	69134213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagaacatggacgttaatatCgccccactccgcgcctggga	11	13	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:69134213C>G	ENST00000273258.3	+	1	119	c.15C>G	c.(13-15)atC>atG	p.I5M	ARL6IP5_ENST00000478935.1_Missense_Mutation_p.I5M	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	5					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ACGTTAATATCGCCCCACTCC	0.587																																																	0													54	60	58					3																	69134213		2203	4300	6503	SO:0001583	missense	10550			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"PRA1 domain family 3"	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.15C>G	3.37:g.69134213C>G	ENSP00000273258:p.Ile5Met		B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	pfam_Prenylated_rab_accept_PRA1	p.I5M	ENST00000273258.3	37	c.15	CCDS2912.1	3	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946809	0.53186	.	.	ENSG00000144746	ENST00000273258;ENST00000412089;ENST00000478935	T;T	0.45276	0.9;0.9	5.69	1.76	0.24704	.	0.568407	0.19607	N	0.110224	T	0.31451	0.0797	L	0.34521	1.04	0.29537	N	0.852398	B	0.28350	0.208	B	0.38500	0.275	T	0.31998	-0.9923	10	0.56958	D	0.05	-10.5842	2.0818	0.03636	0.2221:0.3415:0.2925:0.1439	.	5	O75915	PRAF3_HUMAN	M	5	ENSP00000273258:I5M;ENSP00000420138:I5M	ENSP00000273258:I5M	I	+	3	3	ARL6IP5	69216903	0.525000	0.26290	0.284000	0.24805	0.624000	0.37722	-0.306000	0.08178	0.392000	0.25172	0.650000	0.86243	ATC	ARL6IP5	-	pfam_Prenylated_rab_accept_PRA1		0.587	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP5	HGNC	protein_coding	OTTHUMT00000352132.1	C	NM_006407		69134213	1	no_errors	ENST00000273258	ensembl	human	known	70_37	missense	SNP	0.835	G	G	69134213	C	G	69134213	3	3	147	1	0	0	0	0	1	0	0	0	945	874	31	1	17	1	ARL6IP5	3	69134213	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9555	69134213	128888217	251	23505										
SHQ1	55164	genome.wustl.edu	37	chr3	72890222	72890222	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgttgcaacactcctgatcGtaagtttccaaatccatagt	6	12	0	1	rs199551642	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:72890222G>A	ENST00000325599.8	-	4	599	c.460C>T	c.(460-462)Cga>Tga	p.R154*	SHQ1_ENST00000463369.1_Nonsense_Mutation_p.R126*	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	154					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ACTCCTGATCGTAAGTTTCCA	0.393																																																	0													180	170	174					3																	72890222		2203	4300	6503	SO:0001587	stop_gained	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.460C>T	3.37:g.72890222G>A	ENSP00000315182:p.Arg154*		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Nonsense_Mutation	SNP	pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.R154*	ENST00000325599.8	37	c.460	CCDS33788.1	3	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948476	0.53186	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	.	.	.	5.27	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-3.2222	16.3736	0.83374	0.0:0.0:0.474:0.526	.	.	.	.	X	154;126;65	.	ENSP00000315182:R154X	R	-	1	2	SHQ1	72972912	0.541000	0.26417	0.007000	0.13788	0.713000	0.41058	1.300000	0.33436	-0.209000	0.10156	-2.944000	0.00085	CGA	SHQ1	-	NULL		0.393	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHQ1	HGNC	protein_coding	OTTHUMT00000352310.1	G	NM_018130		72890222	-1	no_errors	ENST00000325599	ensembl	human	known	70_37	nonsense	SNP	0.007	A	A	72890222	G	A	72890222	4	1	147	1	0	0	0	0	0	1	0	0	14322	1153	40	2	1305	2	SHQ1	3	72890222	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3756009	72890222	125132208	252	23506										
ROBO2	6092	genome.wustl.edu	37	chr3	77671452	77671452	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgtctggagccttgatttCtgatttggaaacggatgttg	13	5	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:77671452C>G	ENST00000461745.1	+	23	4529	c.3629C>G	c.(3628-3630)tCt>tGt	p.S1210C	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1226C|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1210C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1210					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)			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)		GCCTTGATTTCTGATTTGGAA	0.458																																																	0													122	122	122					3																	77671452		1911	4131	6042	SO:0001583	missense	6092			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.3629C>G	3.37:g.77671452C>G	ENSP00000417164:p.Ser1210Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	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.S1210C	ENST00000461745.1	37	c.3629	CCDS43109.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699140|3.699140	0.68501|0.68501	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.68331	.|-0.15;-0.11;-0.32	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.41001	.|D	.|0.000970	T|T	0.79528|0.79528	0.4461|0.4461	L|L	0.50333|0.50333	1.59|1.59	.|0.30130	.|N	.|0.80488	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.85130	.|0.984;0.997;0.984	T|T	0.80621|0.80621	-0.1301|-0.1301	4|9	.|0.87932	.|D	.|0	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1226;1210;1210	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	L|C	41|1226;1226;1210;1210	.|ENSP00000417335:S1226C;ENSP00000417164:S1210C;ENSP00000327536:S1210C	.|ENSP00000327536:S1210C	F|S	+|+	3|2	2|0	ROBO2|ROBO2	77754142|77754142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.380000|0.380000	0.30137|0.30137	7.487000|7.487000	0.81328|0.81328	2.611000|2.611000	0.88343|0.88343	0.650000|0.650000	0.86243|0.86243	TTC|TCT	ROBO2	-	NULL		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	C	XM_031246		77671452	1	no_errors	ENST00000461745	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77671452	C	G	77671452	3	3	147	1	0	0	0	0	1	0	0	0	13544	913	32	1	3721	1	ROBO2	3	77671452	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4781230	77671452	120350978	253	23507										
ARL13B	200894	genome.wustl.edu	37	chr3	93768272	93768272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatggtaaaaagaaaactaaGaaactaagaatgaaaaggaa	8	2	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:93768272G>A	ENST00000394222.3	+	8	1322	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ARL13B_ENST00000303097.7_Silent_p.K242K|ARL13B_ENST00000535334.1_Silent_p.K246K|ARL13B_ENST00000539730.1_Silent_p.K70K|ARL13B_ENST00000471138.1_Silent_p.K349K|DHFRL1_ENST00000481631.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	349					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AGAAAACTAAGAAACTAAGAA	0.378																																																	0													59	58	58					3																	93768272		2203	4300	6503	SO:0001819	synonymous_variant	200894			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1047G>A	3.37:g.93768272G>A			D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.K349	ENST00000394222.3	37	c.1047	CCDS2925.1	3																																																																																			ARL13B	-	NULL		0.378	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	G	NM_182896		93768272	1	no_errors	ENST00000394222	ensembl	human	known	70_37	silent	SNP	1.000	A	A	93768272	G	A	93768272	2	1	147	1	0	0	0	0	0	0	0	1	929	933	33	1		1	ARL13B	3	93768272	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	16096820	93768272	104254158	254	23508										
DCBLD2	131566	genome.wustl.edu	37	chr3	98520480	98520480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtaagtcataggtgccttCagtttttttctttctggaaa	9	6	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:98520480C>T	ENST00000326840.6	-	14	2046	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	DCBLD2_ENST00000326857.9_Missense_Mutation_p.E562K	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	562					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TAGGTGCCTTCAGTTTTTTTC	0.483																																																	0													52	54	54					3																	98520480		1850	4091	5941	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1684G>A	3.37:g.98520480C>T	ENSP00000321573:p.Glu562Lys		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.E562K	ENST00000326840.6	37	c.1684	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891388	0.52014	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.91686	-2.74;-2.89	5.41	4.54	0.55810	.	0.051424	0.85682	N	0.000000	D	0.89584	0.6757	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.15930	0.015;0.003	B;B	0.21917	0.037;0.004	D	0.85616	0.1261	10	0.31617	T	0.26	-19.258	12.2835	0.54779	0.0:0.917:0.0:0.083	.	562;562	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	K	562	ENSP00000321573:E562K;ENSP00000321646:E562K	ENSP00000321573:E562K	E	-	1	0	DCBLD2	100003170	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	5.113000	0.64640	1.425000	0.47237	0.655000	0.94253	GAA	DCBLD2	-	NULL		0.483	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	C	NM_080927		98520480	-1	no_errors	ENST00000326857	ensembl	human	known	70_37	missense	SNP	0.998	T	T	98520480	C	T	98520480	3	4	147	1	0	0	0	0	1	0	0	0	4286	835	29	1	655	1	DCBLD2	3	98520480	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4752208	98520480	99501950	255	23509										
CBLB	868	genome.wustl.edu	37	chr3	105377916	105377916	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctatctctaaggctctcttCacctcttcaaaggcataacc	5	14	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:105377916C>T	ENST00000264122.4	-	19	3168	c.2847G>A	c.(2845-2847)gtG>gtA	p.V949V	CBLB_ENST00000407712.1_Silent_p.V164V|CBLB_ENST00000394027.3_Silent_p.V927V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	949	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGCTCTCTTCACCTCTTCAA	0.478			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													122	119	120					3																	105377916		2203	4300	6503	SO:0001819	synonymous_variant	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2847G>A	3.37:g.105377916C>T			A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.V949	ENST00000264122.4	37	c.2847	CCDS2948.1	3																																																																																			CBLB	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.478	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105377916	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	silent	SNP	0.997	T	T	105377916	C	T	105377916	2	4	147	1	0	0	0	0	0	0	0	1	2706	813	29	1		1	CBLB	3	105377916	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6857436	105377916	92644514	256	23510										
C3orf52	79669	genome.wustl.edu	37	chr3	111835488	111835488	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatctgtgttttctttttaGaatgaagtgatggaggctgg	12	4	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:111835488G>C	ENST00000264848.5	+	6	708		c.e6-1		C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000431717.2_Splice_Site|C3orf52_ENST00000467942.2_Splice_Site	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTTCTTTTTAGAATGAAGTGA	0.343																																																	0													56	55	56					3																	111835488		1834	4091	5925	SO:0001630	splice_region_variant	79669			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"TPA induced trans-membrane protein"	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.650-1G>C	3.37:g.111835488G>C			B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Splice_Site	SNP	-	e4-1	ENST00000264848.5	37	c.397-1	CCDS46887.1	3	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307104	0.23821	.	.	ENSG00000114529	ENST00000431717;ENST00000264848;ENST00000484828	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7502	0.57304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf52	113318178	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	3.817000	0.55668	2.726000	0.93360	0.655000	0.94253	.	C3orf52	-	-		0.343	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf52	HGNC	protein_coding	OTTHUMT00000353961.1	G	NM_024616	Intron	111835488	1	no_errors	ENST00000431717	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	111835488	G	C	111835488	5	2	147	1	0	0	0	0	0	0	1	0	2237	956	33	1	671	1	C3orf52	3	111835488	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6457572	111835488	86186942	257	23511										
LRRC58	116064	genome.wustl.edu	37	chr3	120067653	120067653	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgccgcccaggctcagggtCtgcagcgcgcgcagctctaa	13	15	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:120067653C>G	ENST00000295628.3	-	1	533	c.438G>C	c.(436-438)caG>caC	p.Q146H	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	146										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GGCTCAGGGTCTGCAGCGCGC	0.672																																																	0													13	16	15					3																	120067653		1979	4171	6150	SO:0001583	missense	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.438G>C	3.37:g.120067653C>G	ENSP00000295628:p.Gln146His			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q146H	ENST00000295628.3	37	c.438	CCDS46892.1	3	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595911	0.46318	.	.	ENSG00000163428	ENST00000295628	T	0.10005	2.92	4.69	1.71	0.24356	.	0.176493	0.51477	N	0.000086	T	0.15262	0.0368	M	0.66939	2.045	0.50467	D	0.999873	B	0.09022	0.002	B	0.10450	0.005	T	0.13202	-1.0518	10	0.62326	D	0.03	-2.2372	16.3252	0.82977	0.0:0.4967:0.5033:0.0	.	146	Q96CX6	LRC58_HUMAN	H	146	ENSP00000295628:Q146H	ENSP00000295628:Q146H	Q	-	3	2	LRRC58	121550343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.108000	0.31123	0.244000	0.21351	0.655000	0.94253	CAG	LRRC58	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.672	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	HGNC	protein_coding	OTTHUMT00000355142.1	C	XM_057296		120067653	-1	no_errors	ENST00000295628	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120067653	C	G	120067653	3	3	147	1	0	0	0	0	1	0	0	0	9037	912	32	1	693	1	LRRC58	3	120067653	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8232165	120067653	77954777	258	23512										
POLQ	10721	genome.wustl.edu	37	chr3	121206962	121206962	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcttgatctcctccatcttGatcaccttggtggtgctcat	7	12	5	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:121206962G>A	ENST00000264233.5	-	16	4944	c.4816C>T	c.(4816-4818)Caa>Taa	p.Q1606*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1606					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)			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)		CCTCCATCTTGATCACCTTGG	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													206	199	201					3																	121206962		2203	4300	6503	SO:0001587	stop_gained	10721			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.4816C>T	3.37:g.121206962G>A	ENSP00000264233:p.Gln1606*		O95160|Q6VMB5	Nonsense_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.Q1606*	ENST00000264233.5	37	c.4816	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.290331	0.98189	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	6.04	-0.0498	0.13833	.	2.176020	0.01515	N	0.018098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	7.9658	0.30098	0.0:0.345:0.4129:0.2421	.	.	.	.	X	1229;1606;1742	.	ENSP00000264233:Q1606X	Q	-	1	0	POLQ	122689652	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.011000	0.12721	-0.311000	0.08754	-0.344000	0.07964	CAA	POLQ	-	NULL		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121206962	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	121206962	G	A	121206962	4	1	147	1	0	0	0	0	0	1	0	0	12232	1299	45	1	3016	1	POLQ	3	121206962	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1139309	121206962	76815468	259	23513										
SLC15A2	6565	genome.wustl.edu	37	chr3	121631876	121631876	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctccatttcagagtcctatCattgatcggcctgagtctaa	7	11	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:121631876C>T	ENST00000489711.1	+	5	825	c.437C>T	c.(436-438)tCa>tTa	p.S146L	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S115L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	146					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGAGTCCTATCATTGATCGGC	0.453																																																	0													327	318	321					3																	121631876		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.437C>T	3.37:g.121631876C>T	ENSP00000417085:p.Ser146Leu		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.S146L	ENST00000489711.1	37	c.437	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742591	0.69418	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605;ENST00000469013	T;T;T	0.40476	1.03;3.87;1.03	6.05	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);	0.116207	0.64402	D	0.000010	T	0.41926	0.1180	L	0.35644	1.08	0.58432	D	0.999999	P;B	0.37398	0.593;0.011	P;B	0.45506	0.483;0.183	T	0.27905	-1.0060	10	0.54805	T	0.06	-6.5566	12.3585	0.55188	0.0:0.9199:0.0:0.0801	.	115;146	B4E2A7;Q16348	.;S15A2_HUMAN	L	146;108;115;84	ENSP00000417085:S146L;ENSP00000295605:S115L;ENSP00000418704:S84L	ENSP00000295605:S115L	S	+	2	0	SLC15A2	123114566	1.000000	0.71417	0.104000	0.21259	0.145000	0.21501	5.750000	0.68712	2.878000	0.98634	0.650000	0.86243	TCA	SLC15A2	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.453	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	C	NM_021082		121631876	1	no_errors	ENST00000489711	ensembl	human	known	70_37	missense	SNP	0.975	T	T	121631876	C	T	121631876	3	4	147	1	0	0	0	0	1	0	0	0	14429	838	29	1	455	1	SLC15A2	3	121631876	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	424914	121631876	76390554	260	23514										
HSPBAP1	79663	genome.wustl.edu	37	chr3	122459521	122459521	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acttgctgcctccggtttgtCtgttcctgtggtcaagttct	10	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:122459521C>A	ENST00000306103.2	-	8	1281	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	380						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCCGGTTTGTCTGTTCCTGTG	0.502																																																	0													186	180	182					3																	122459521		2203	4300	6503	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1138G>T	3.37:g.122459521C>A	ENSP00000302562:p.Asp380Tyr		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.D380Y	ENST00000306103.2	37	c.1138	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883787	0.17467	.	.	ENSG00000169087	ENST00000306103	T	0.30981	1.51	5.1	-1.02	0.10135	.	4.022440	0.00166	N	0.000011	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20371	-1.0277	10	0.15066	T	0.55	.	9.5206	0.39133	0.0:0.5757:0.0:0.4243	.	380	Q96EW2	HBAP1_HUMAN	Y	380	ENSP00000302562:D380Y	ENSP00000302562:D380Y	D	-	1	0	HSPBAP1	123942211	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-0.410000	0.07542	0.655000	0.94253	GAC	HSPBAP1	-	NULL		0.502	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	C	NM_024610		122459521	-1	no_errors	ENST00000306103	ensembl	human	known	70_37	missense	SNP	0.000	A	A	122459521	C	A	122459521	3	1	147	1	0	0	0	0	1	0	0	0	7445	913	32	3	332	3	HSPBAP1	3	122459521	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	827645	122459521	75562909	261	23515										
DIRC2	84925	genome.wustl.edu	37	chr3	122545852	122545852	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaatgggacatcacctcttCttgctgcagagagcagcagg	11	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:122545852C>T	ENST00000261038.5	+	3	1041	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	215					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATCACCTCTTCTTGCTGCAGA	0.428																																																	0													135	121	126					3																	122545852		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.643C>T	3.37:g.122545852C>T	ENSP00000261038:p.Leu215Phe		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L215F	ENST00000261038.5	37	c.643	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109257	0.06924	.	.	ENSG00000138463	ENST00000261038	D	0.91996	-2.95	5.89	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);	0.473238	0.24841	N	0.035177	D	0.86188	0.5873	L	0.40543	1.245	0.45097	D	0.998117	B	0.09022	0.002	B	0.11329	0.006	T	0.77332	-0.2627	10	0.08599	T	0.76	.	11.7994	0.52118	0.0:0.8571:0.0:0.1429	.	215	Q96SL1	DIRC2_HUMAN	F	215	ENSP00000261038:L215F	ENSP00000261038:L215F	L	+	1	0	DIRC2	124028542	0.494000	0.26043	0.990000	0.47175	0.498000	0.33706	1.571000	0.36450	0.863000	0.35553	-0.143000	0.13931	CTT	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.428	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122545852	1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	0.814	T	T	122545852	C	T	122545852	3	4	147	1	0	0	0	0	1	0	0	0	4544	913	32	1	653	1	DIRC2	3	122545852	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	86331	122545852	75476578	262	23516										
ADCY5	111	genome.wustl.edu	37	chr3	123010071	123010071	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttggcgatggaggcgaacatGaccgccacacactcacagga	12	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:123010071G>C	ENST00000462833.1	-	18	4428	c.3216C>G	c.(3214-3216)gtC>gtG	p.V1072V	ADCY5_ENST00000309879.5_Silent_p.V722V|ADCY5_ENST00000491190.1_Silent_p.V730V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1072	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGGCGAACATGACCGCCACAC	0.587																																																	0													102	81	89					3																	123010071		2203	4300	6503	SO:0001819	synonymous_variant	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3216C>G	3.37:g.123010071G>C			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1072	ENST00000462833.1	37	c.3216	CCDS3022.1	3																																																																																			ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123010071	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	silent	SNP	1.000	C	C	123010071	G	C	123010071	2	2	147	1	0	0	0	0	0	0	0	1	297	1277	45	1		1	ADCY5	3	123010071	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	464219	123010071	75012359	263	23517										
KALRN	8997	genome.wustl.edu	37	chr3	124376306	124376306	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgctgcagggcttcatgaaGagaatagaagaaaagggtgt	14	5	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:124376306G>C	ENST00000291478.5	+	7	943	c.780G>C	c.(778-780)aaG>aaC	p.K260N	KALRN_ENST00000360013.3_Missense_Mutation_p.K1957N|KALRN_ENST00000459915.1_Missense_Mutation_p.K49N|KALRN_ENST00000428018.2_Missense_Mutation_p.K228N|KALRN_ENST00000393496.1_Missense_Mutation_p.K298N	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1956					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTTCATGAAGAGAATAGAAG	0.458																																																	0													104	93	97					3																	124376306		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.780G>C	3.37:g.124376306G>C	ENSP00000291478:p.Lys260Asn		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.K1957N	ENST00000291478.5	37	c.5871	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.29|16.29	3.081324|3.081324	0.55753|0.55753	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	T;T;T;T;T|.	0.63580|.	-0.05;-0.05;-0.05;-0.05;-0.05|.	5.08|5.08	4.2|4.2	0.49525|0.49525	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43765|0.43765	0.1262|0.1262	L|L	0.42487|0.42487	1.325|1.325	0.33589|0.33589	D|D	0.60085|0.60085	B;D;D;P|.	0.65815|.	0.249;0.995;0.989;0.631|.	B;D;P;P|.	0.65773|.	0.348;0.938;0.827;0.486|.	T|T	0.54410|0.54410	-0.8298|-0.8298	10|5	0.62326|.	D|.	0.03|.	.|.	7.0001|7.0001	0.24805|0.24805	0.1529:0.1433:0.7038:0.0|0.1529:0.1433:0.7038:0.0	.|.	49;260;298;1956|.	E7EUZ8;C9JQ37;O60229-5;O60229|.	.;.;.;KALRN_HUMAN|.	N|T	1957;298;260;228;49|1926	ENSP00000353109:K1957N;ENSP00000377134:K298N;ENSP00000291478:K260N;ENSP00000402419:K228N;ENSP00000420318:K49N|.	ENSP00000291478:K260N|.	K|R	+|+	3|2	2|0	KALRN|KALRN	125858996|125858996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	1.335000|1.335000	0.45486|0.45486	0.655000|0.655000	0.94253|0.94253	AAG|AGA	KALRN	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.458	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	G	NM_003947		124376306	1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	C	C	124376306	G	C	124376306	3	2	147	1	0	0	0	0	1	0	0	0	7995	933	33	1	6185	1	KALRN	3	124376306	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1366235	124376306	73646124	264	23518										
HEG1	57493	genome.wustl.edu	37	chr3	124748248	124748248	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctctttggaggacactgttGaaaagtcctcttgattctga	9	9	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:124748248G>A	ENST00000311127.4	-	2	468	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	134					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGACACTGTTGAAAAGTCCTC	0.483																																																	0													111	104	106					3																	124748248		1903	4132	6035	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.401C>T	3.37:g.124748248G>A	ENSP00000311502:p.Ser134Leu		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.S134L	ENST00000311127.4	37	c.401	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	9.334	1.061171	0.19987	.	.	ENSG00000173706	ENST00000311127	T	0.54866	0.55	5.52	3.68	0.42216	.	.	.	.	.	T	0.50480	0.1618	N	0.20986	0.625	0.09310	N	1	D;D	0.63046	0.992;0.986	P;P	0.57720	0.826;0.593	T	0.33420	-0.9869	9	0.59425	D	0.04	.	7.0615	0.25129	0.0864:0.0:0.7446:0.169	.	134;134	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	134	ENSP00000311502:S134L	ENSP00000311502:S134L	S	-	2	0	HEG1	126230938	0.653000	0.27358	0.002000	0.10522	0.054000	0.15201	1.910000	0.39927	0.835000	0.34877	0.563000	0.77884	TCA	HEG1	-	NULL		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	G	XM_087386		124748248	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	missense	SNP	0.003	A	A	124748248	G	A	124748248	3	1	147	1	0	0	0	0	1	0	0	0	7064	1294	45	1	3808	1	HEG1	3	124748248	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	371942	124748248	73274182	265	23519										
GATA2	2624	genome.wustl.edu	37	chr3	128205845	128205845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcacggccgggtgcgccatCcagcgcggctgctcgggcgc	17	16	0	0	rs367785289		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:128205845C>G	ENST00000341105.2	-	2	361	c.30G>C	c.(28-30)tgG>tgC	p.W10C	RP11-475N22.4_ENST00000468377.1_RNA|RP11-475N22.4_ENST00000464242.1_RNA|GATA2_ENST00000487848.1_Missense_Mutation_p.W10C|GATA2_ENST00000430265.2_Missense_Mutation_p.W10C|RP11-475N22.4_ENST00000473958.1_RNA	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	10					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGTGCGCCATCCAGCGCGGCT	0.731			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													24	24	24					3																	128205845		2193	4282	6475	SO:0001583	missense	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.30G>C	3.37:g.128205845C>G	ENSP00000345681:p.Trp10Cys		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.W10C	ENST00000341105.2	37	c.30	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885890	0.72410	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848;ENST00000492608	D;D;D	0.99399	-5.83;-5.76;-5.83	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.87578	0.998;0.746	D	0.98397	1.0566	10	0.87932	D	0	-13.1263	17.68	0.88240	0.0:1.0:0.0:0.0	.	10;10	P23769-2;P23769	.;GATA2_HUMAN	C	10	ENSP00000345681:W10C;ENSP00000400259:W10C;ENSP00000417074:W10C	ENSP00000345681:W10C	W	-	3	0	GATA2	129688535	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.444000	0.80532	2.146000	0.66826	0.462000	0.41574	TGG	GATA2	-	pirsf_TF_GATA-1/2/3		0.731	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	C	NM_032638		128205845	-1	no_errors	ENST00000341105	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128205845	C	G	128205845	3	3	147	1	0	0	0	0	1	0	0	0	6273	856	30	1	1432	1	GATA2	3	128205845	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3457597	128205845	69816585	266	23520										
H1FX	8971	genome.wustl.edu	37	chr3	129034730	129034730	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgtcactggcagggcctcctCgagctccacggacatggtag	13	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:129034730C>G	ENST00000333762.4	-	1	390	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	6					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						AGGGCCTCCTCGAGCTCCACG	0.682																																																	0													9	9	9					3																	129034730		2198	4293	6491	SO:0001583	missense	8971			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"Histones / Replication-independent"	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.16G>C	3.37:g.129034730C>G	ENSP00000329662:p.Glu6Gln			Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.E6Q	ENST00000333762.4	37	c.16	CCDS3057.1	3	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461230	0.43736	.	.	ENSG00000184897	ENST00000333762	T	0.07567	3.18	3.42	3.42	0.39159	.	0.179052	0.33496	U	0.004857	T	0.04815	0.0130	N	0.14661	0.345	0.26034	N	0.981702	P	0.39404	0.672	B	0.34038	0.174	T	0.31586	-0.9938	10	0.59425	D	0.04	-38.7515	10.3331	0.43833	0.0:1.0:0.0:0.0	.	6	Q92522	H1X_HUMAN	Q	6	ENSP00000329662:E6Q	ENSP00000329662:E6Q	E	-	1	0	H1FX	130517420	0.946000	0.32159	0.775000	0.31657	0.115000	0.19883	2.598000	0.46223	1.451000	0.47736	0.561000	0.74099	GAG	H1FX	-	NULL		0.682	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FX	HGNC	protein_coding	OTTHUMT00000355455.2	C	NM_006026		129034730	-1	no_errors	ENST00000333762	ensembl	human	known	70_37	missense	SNP	0.536	G	G	129034730	C	G	129034730	3	3	147	1	0	0	0	0	1	0	0	0	6943	893	31	1	629	1	H1FX	3	129034730	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	828885	129034730	68987700	267	23521										
COL6A5	256076	genome.wustl.edu	37	chr3	130174321	130174321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgttactgagctacaagagGattttttgggaggtaatggc	13	4	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:130174321G>C	ENST00000432398.2	+	37	7095	c.6601G>C	c.(6601-6603)Gat>Cat	p.D2201H	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2201H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2201	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCTACAAGAGGATTTTTTGGG	0.343																																																	0													37	36	37					3																	130174321		1796	4065	5861	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6601G>C	3.37:g.130174321G>C	ENSP00000390895:p.Asp2201His		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D2201H	ENST00000432398.2	37	c.6601		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.426|6.426	0.446821|0.446821	0.12223|0.12223	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.86;-0.7|.	4.38|4.38	-7.32|-7.32	0.01436|0.01436	.|.	1.763890|.	0.03591|.	N|.	0.231932|.	T|T	0.28732|0.28732	0.0712|0.0712	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;P|.	0.37276|.	0.327;0.589|.	B;B|.	0.37346|.	0.125;0.247|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|5	0.45353|.	T|.	0.12|.	.|.	8.6915|8.6915	0.34269|0.34269	0.736:0.0:0.1498:0.1142|0.736:0.0:0.1498:0.1142	.|.	2201;2201|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	H|A	2201;2201;144;36|452	ENSP00000390895:D2201H;ENSP00000265379:D2201H;ENSP00000362250:D144H;ENSP00000424968:D36H|.	ENSP00000265379:D2201H|.	D|G	+|+	1|2	0|0	COL6A5|COL6A5	131657011|131657011	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.848000|-0.848000	0.04326|0.04326	-1.567000|-1.567000	0.01671|0.01671	-0.157000|-0.157000	0.13467|0.13467	GAT|GGA	COL6A5	-	NULL		0.343	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130174321	1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.000	C	C	130174321	G	C	130174321	3	2	147	1	0	0	0	0	1	0	0	0	3707	1174	41	1	6743	1	COL6A5	3	130174321	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1139591	130174321	67848109	268	23522										
PCCB	5096	genome.wustl.edu	37	chr3	135980905	135980905	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggctatgcagacatctttCtggtgagaaacctgttaata	9	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:135980905C>T	ENST00000251654.4	+	5	611	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	PCCB_ENST00000490504.1_Intron|PCCB_ENST00000462637.1_Silent_p.L158L|PCCB_ENST00000483687.1_Silent_p.L162L|PCCB_ENST00000471595.1_Silent_p.L181L|PCCB_ENST00000478469.1_Silent_p.L181L|PCCB_ENST00000469217.1_Silent_p.L201L|PCCB_ENST00000482086.1_Silent_p.L65L|PCCB_ENST00000468777.1_Silent_p.L212L|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Silent_p.L181L	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	181	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AGACATCTTTCTGGTGAGAAA	0.498																																																	0													35	35	35					3																	135980905		2190	4258	6448	SO:0001819	synonymous_variant	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.541C>T	3.37:g.135980905C>T			B7Z2Z4|Q16813|Q96CX0	Silent	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.L181	ENST00000251654.4	37	c.541	CCDS3089.1	3																																																																																			PCCB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N		0.498	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCCB	HGNC	protein_coding	OTTHUMT00000357335.1	C			135980905	1	no_errors	ENST00000251654	ensembl	human	known	70_37	silent	SNP	1.000	T	T	135980905	C	T	135980905	2	4	147	1	0	0	0	0	0	0	0	1	11529	912	32	1		1	PCCB	3	135980905	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5806584	135980905	62041525	269	23523										
CEP70	80321	genome.wustl.edu	37	chr3	138256057	138256057	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgaggaactcttttgcacaGataggcaaacactctgtttt	8	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:138256057G>A	ENST00000264982.3	-	7	864	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	CEP70_ENST00000484888.1_Silent_p.L200L|CEP70_ENST00000542237.1_Silent_p.L180L|CEP70_ENST00000489254.1_Silent_p.L48L|CEP70_ENST00000464035.1_Silent_p.L200L|CEP70_ENST00000481834.1_Silent_p.L200L|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	200					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTTTGCACAGATAGGCAAAC	0.353																																																	0													184	157	166					3																	138256057		2203	4300	6503	SO:0001819	synonymous_variant	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.598C>T	3.37:g.138256057G>A			B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L200	ENST00000264982.3	37	c.598	CCDS3102.1	3																																																																																			CEP70	-	NULL		0.353	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	G	NM_024491		138256057	-1	no_errors	ENST00000264982	ensembl	human	known	70_37	silent	SNP	0.986	A	A	138256057	G	A	138256057	2	1	147	1	0	0	0	0	0	0	0	1	3264	933	33	1		1	CEP70	3	138256057	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2275152	138256057	59766373	270	23524										
CLSTN2	64084	genome.wustl.edu	37	chr3	140284961	140284961	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggaggaagaagccgaggaaGaaatgagctccagcagtggc	16	7	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:140284961G>A	ENST00000458420.3	+	17	2924	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	912	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGCCGAGGAAGAAATGAGCTC	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													106	108	107					3																	140284961		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2734G>A	3.37:g.140284961G>A	ENSP00000402460:p.Glu912Lys		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E912K	ENST00000458420.3	37	c.2734	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394516	0.42512	.	.	ENSG00000158258	ENST00000458420	T	0.34667	1.35	5.32	5.32	0.75619	.	3.558290	0.00812	N	0.001511	T	0.36220	0.0959	L	0.29908	0.895	0.36682	D	0.879099	B	0.14438	0.01	B	0.12156	0.007	T	0.04708	-1.0932	9	.	.	.	-12.9841	16.4885	0.84191	0.0:0.0:1.0:0.0	.	912	Q9H4D0	CSTN2_HUMAN	K	912	ENSP00000402460:E912K	.	E	+	1	0	CLSTN2	141767651	1.000000	0.71417	0.969000	0.41365	0.822000	0.46500	8.829000	0.92055	2.477000	0.83638	0.655000	0.94253	GAA	CLSTN2	-	NULL		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	G	NM_022131		140284961	1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140284961	G	A	140284961	3	1	147	1	0	0	0	0	1	0	0	0	3567	943	33	1	2800	1	CLSTN2	3	140284961	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2028904	140284961	57737469	271	23525										
TRIM42	287015	genome.wustl.edu	37	chr3	140406965	140406965	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acgtgcccttggactttgttGagctttccagtgccatccat	9	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:140406965G>A	ENST00000286349.3	+	3	1632	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	481	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E481*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACTTTGTTGAGCTTTCCAG	0.597																																																	1	Substitution - Nonsense(1)	skin(1)											78	67	71					3																	140406965		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1441G>A	3.37:g.140406965G>A	ENSP00000286349:p.Glu481Lys		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E481K	ENST00000286349.3	37	c.1441	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113983	0.56398	.	.	ENSG00000155890	ENST00000286349	T	0.38560	1.13	5.63	4.75	0.60458	COS domain (1);	0.089409	0.47852	D	0.000202	T	0.24736	0.0600	N	0.17082	0.46	0.34351	D	0.689842	B	0.24043	0.096	B	0.18263	0.021	T	0.22836	-1.0205	10	0.30078	T	0.28	-28.7203	9.7948	0.40728	0.0915:0.0:0.9085:0.0	.	481	Q8IWZ5	TRI42_HUMAN	K	481	ENSP00000286349:E481K	ENSP00000286349:E481K	E	+	1	0	TRIM42	141889655	0.999000	0.42202	0.968000	0.41197	0.494000	0.33585	3.341000	0.52151	2.826000	0.97356	0.655000	0.94253	GAG	TRIM42	-	NULL		0.597	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	G	NM_152616		140406965	1	no_errors	ENST00000286349	ensembl	human	known	70_37	missense	SNP	0.950	A	A	140406965	G	A	140406965	3	1	147	1	0	0	0	0	1	0	0	0	16548	1291	45	1	1451	1	TRIM42	3	140406965	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	122004	140406965	57615465	272	23526										
PCOLCE2	26577	genome.wustl.edu	37	chr3	142567129	142567129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgtgttggcatcagaaatCatctgcaccatcatcttgtt	8	10	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:142567129C>G	ENST00000295992.3	-	3	684	c.378G>C	c.(376-378)atG>atC	p.M126I	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.M126I	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	126	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CATCAGAAATCATCTGCACCA	0.517																																																	0													99	95	96					3																	142567129		2203	4300	6503	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.378G>C	3.37:g.142567129C>G	ENSP00000295992:p.Met126Ile		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.M126I	ENST00000295992.3	37	c.378	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768014	0.69878	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.17370	2.28;2.28	5.25	5.25	0.73442	CUB (5);	0.038381	0.85682	D	0.000000	T	0.32315	0.0825	M	0.62088	1.915	0.58432	D	0.999999	P	0.49862	0.929	P	0.50825	0.651	T	0.03103	-1.1072	10	0.87932	D	0	-23.6412	19.0791	0.93175	0.0:1.0:0.0:0.0	.	126	Q9UKZ9	PCOC2_HUMAN	I	126	ENSP00000295992:M126I;ENSP00000419842:M126I	ENSP00000295992:M126I	M	-	3	0	PCOLCE2	144049819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.742000	0.94016	0.644000	0.83932	ATG	PCOLCE2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.517	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	C	NM_013363		142567129	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142567129	C	G	142567129	3	3	147	1	0	0	0	0	1	0	0	0	11619	826	29	1	897	1	PCOLCE2	3	142567129	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2160164	142567129	55455301	273	23527										
CCDC39	339829	genome.wustl.edu	37	chr3	180381770	180381770	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctttcatccttcagctttGacaactgtaaataataaata	3	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:180381770G>C	ENST00000442201.2	-	2	214	c.95C>G	c.(94-96)tCa>tGa	p.S32*	CCDC39_ENST00000273654.4_Nonsense_Mutation_p.S116*	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	32					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTCAGCTTTGACAACTGTAA	0.303																																																	0													102	95	97					3																	180381770		1825	4101	5926	SO:0001587	stop_gained	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.95C>G	3.37:g.180381770G>C	ENSP00000405708:p.Ser32*		B4E2H1	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S32*	ENST00000442201.2	37	c.95	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.728909	0.96856	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	.	.	.	6.07	2.99	0.34606	.	0.547151	0.19893	N	0.103683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.0097	3.0422	0.06142	0.3234:0.0:0.486:0.1906	.	.	.	.	X	116;32;14	.	ENSP00000273654:S116X	S	-	2	0	CCDC39	181864464	1.000000	0.71417	0.993000	0.49108	0.350000	0.29205	1.223000	0.32527	0.913000	0.36797	-0.225000	0.12378	TCA	CCDC39	-	superfamily_tRNA-bd_arm		0.303	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	G	XM_291028		180381770	-1	no_errors	ENST00000442201	ensembl	human	known	70_37	nonsense	SNP	0.895	C	C	180381770	G	C	180381770	4	2	147	1	0	0	0	0	0	1	0	0	2816	1294	45	1	2806	1	CCDC39	3	180381770	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	37814641	180381770	17640660	274	23528										
DGKG	1608	genome.wustl.edu	37	chr3	185986688	185986688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacggaggagttcccttccaCccatgcgtgctgcatcacct	10	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:185986688C>A	ENST00000265022.3	-	12	1557	c.1018G>T	c.(1018-1020)Gtg>Ttg	p.V340L	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V340L|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	340					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTCCCTTCCACCCATGCGTGC	0.617																																																	0													82	61	68					3																	185986688		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1018G>T	3.37:g.185986688C>A	ENSP00000265022:p.Val340Leu		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V340L	ENST00000265022.3	37	c.1018	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804520	0.31869	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84660	-1.88;-1.88;-1.88	5.16	4.27	0.50696	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.120544	0.53938	D	0.000056	T	0.79953	0.4535	L	0.39147	1.195	0.80722	D	1	P;P	0.45986	0.575;0.87	B;B	0.43194	0.396;0.411	T	0.81208	-0.1037	10	0.56958	D	0.05	.	10.8492	0.46761	0.0:0.8558:0.0:0.1442	.	340;340	P49619-2;P49619	.;DGKG_HUMAN	L	340;340;91	ENSP00000265022:V340L;ENSP00000339777:V340L;ENSP00000395526:V91L	ENSP00000265022:V340L	V	-	1	0	DGKG	187469382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.553000	0.36255	2.590000	0.87494	0.563000	0.77884	GTG	DGKG	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.617	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	C			185986688	-1	no_errors	ENST00000265022	ensembl	human	known	70_37	missense	SNP	1.000	A	A	185986688	C	A	185986688	3	1	147	1	0	0	0	0	1	0	0	0	4479	507	18	4	1413	4	DGKG	3	185986688	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5604918	185986688	12035742	275	23529										
IL1RAP	3556	genome.wustl.edu	37	chr3	190374011	190374011	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggctggaatgagagctgctCttcccagtctgacatcagtc	11	11	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:190374011C>T	ENST00000317757.3	+	12	1885	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F	IL1RAP_ENST00000443369.2_Missense_Mutation_p.S560F|RP11-268E23.2_ENST00000609508.1_lincRNA	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	562					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAGAGCTGCTCTTCCCAGTCT	0.512																																																	0													34	34	34					3																	190374011		692	1591	2283	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1679C>T	3.37:g.190374011C>T	ENSP00000314807:p.Ser560Phe		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.S560F	ENST00000317757.3	37	c.1679	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841542	0.71488	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01629	4.72;4.72	5.51	5.51	0.81932	.	.	.	.	.	T	0.06781	0.0173	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.56860	-0.7909	9	0.10111	T	0.7	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	560	Q9NPH3-5	.	F	560	ENSP00000408893:S560F;ENSP00000314807:S560F	ENSP00000314807:S560F	S	+	2	0	IL1RAP	191856705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.175000	0.71949	2.577000	0.86979	0.561000	0.74099	TCT	IL1RAP	-	NULL		0.512	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190374011	1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	1.000	T	T	190374011	C	T	190374011	3	4	147	1	0	0	0	0	1	0	0	0	7680	913	32	1	2109	1	IL1RAP	3	190374011	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4387323	190374011	7648419	276	23530										
CCDC50	152137	genome.wustl.edu	37	chr3	191075842	191075842	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgtttggtccagcatgatctCcaggtggctaagcagctcca	11	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:191075842C>G	ENST00000392455.3	+	3	766	c.168C>G	c.(166-168)ctC>ctG	p.L56L	CCDC50_ENST00000392456.3_Silent_p.L56L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	56						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCATGATCTCCAGGTGGCTA	0.502																																																	0													168	156	160					3																	191075842		2203	4300	6503	SO:0001819	synonymous_variant	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.168C>G	3.37:g.191075842C>G			Q86VH7	Silent	SNP	NULL	p.L56	ENST00000392455.3	37	c.168	CCDS33913.1	3																																																																																			CCDC50	-	NULL		0.502	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	C	NM_174908		191075842	1	no_errors	ENST00000392456	ensembl	human	known	70_37	silent	SNP	0.966	G	G	191075842	C	G	191075842	2	3	147	1	0	0	0	0	0	0	0	1	2825	842	30	1		1	CCDC50	3	191075842	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	701831	191075842	6946588	277	23531										
ATP13A4	84239	genome.wustl.edu	37	chr3	193210784	193210784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aactaagccagtcttccaaaGaactaaaataataataatga	4	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:193210784G>C	ENST00000342695.4	-	5	777	c.455C>G	c.(454-456)tCt>tGt	p.S152C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S152C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.S152C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	152						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTCTTCCAAAGAACTAAAATA	0.313																																																	0													99	97	98					3																	193210784		2202	4300	6502	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.455C>G	3.37:g.193210784G>C	ENSP00000339182:p.Ser152Cys		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S152C	ENST00000342695.4	37	c.455	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	8.528	0.870281	0.17322	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;D	0.90385	1.43;1.43;-2.66	5.62	2.74	0.32292	ATPase, P-type cation-transporter, N-terminal (1);	0.493628	0.18851	N	0.129420	T	0.82231	0.4992	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.70490	-0.4857	10	0.38643	T	0.18	-6.2484	10.7407	0.46152	0.0783:0.4374:0.4843:0.0	.	152;152	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	C	152	ENSP00000376238:S152C;ENSP00000339182:S152C;ENSP00000295548:S152C	ENSP00000295548:S152C	S	-	2	0	ATP13A4	194693478	0.010000	0.17322	0.997000	0.53966	0.793000	0.44817	0.467000	0.22035	0.721000	0.32231	0.591000	0.81541	TCT	ATP13A4	-	smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp		0.313	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	G	NM_032279		193210784	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	0.046	C	C	193210784	G	C	193210784	3	2	147	1	0	0	0	0	1	0	0	0	1127	942	33	1	3239	1	ATP13A4	3	193210784	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2134942	193210784	4811646	278	23532										
RNF168	165918	genome.wustl.edu	37	chr3	196198875	196198875	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttgtcccttgagcctctctCtggtgttggatgctttgtgt	11	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:196198875C>G	ENST00000318037.3	-	6	2125	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	511					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GAGCCTCTCTCTGGTGTTGGA	0.433																																																	0													347	319	329					3																	196198875		2203	4300	6503	SO:0001583	missense	165918			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1531G>C	3.37:g.196198875C>G	ENSP00000320898:p.Glu511Gln		Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E511Q	ENST00000318037.3	37	c.1531	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	C	1.371	-0.586043	0.03827	.	.	ENSG00000163961	ENST00000318037	T	0.05996	3.36	5.68	-3.84	0.04256	.	1.171900	0.06098	N	0.664906	T	0.02083	0.0065	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44498	-0.9324	10	0.11794	T	0.64	2.8369	1.5103	0.02494	0.186:0.3072:0.3:0.2068	.	511	Q8IYW5	RN168_HUMAN	Q	511	ENSP00000320898:E511Q	ENSP00000320898:E511Q	E	-	1	0	RNF168	197683272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.055000	0.14229	-0.886000	0.03966	-1.090000	0.02178	GAG	RNF168	-	NULL		0.433	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	C	NM_152617		196198875	-1	no_errors	ENST00000318037	ensembl	human	known	70_37	missense	SNP	0.000	G	G	196198875	C	G	196198875	3	3	147	1	0	0	0	0	1	0	0	0	13489	922	32	1	188	1	RNF168	3	196198875	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2988091	196198875	1823555	279	23533										
ZNF721	170960	genome.wustl.edu	37	chr4	437142	437142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgattcagggctgtgtaccGtccaaaggctttgccacagt	11	10	1	1	rs374184066		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:437142G>A	ENST00000338977.5	-	2	1126	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R372W			Q8TF20	ZN721_HUMAN	zinc finger protein 721	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTGTGTACCGTCCAAAGGCT	0.413																																																	0								G	TRP/ARG	0,4286		0,0,2143	103	109	107		1114	-1.4	0	4		107	1,8561		0,1,4280	no	missense	ZNF721	NM_133474.2	101	0,1,6423	AA,AG,GG		0.0117,0.0,0.0078	benign	372/924	437142	1,12847	2143	4281	6424	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1078C>T	4.37:g.437142G>A	ENSP00000340524:p.Arg360Trp		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R372W	ENST00000338977.5	37	c.1114		4	.	.	.	.	.	.	.	.	.	.	G	3.172	-0.169845	0.06461	0.0	1.17E-4	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07444	3.19;3.19	0.71	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	M	0.68593	2.085	0.09310	N	1	D;B;B	0.71674	0.998;0.001;0.0	P;B;B	0.54026	0.74;0.0;0.0	T	0.09975	-1.0650	9	0.36615	T	0.2	.	3.3684	0.07212	0.2369:0.2678:0.4953:0.0	.	360;372;372	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	W	360;372	ENSP00000340524:R360W;ENSP00000428878:R372W	ENSP00000340524:R360W	R	-	1	2	ZNF721	427142	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.887000	0.00092	-1.017000	0.03367	0.194000	0.17425	CGG	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	G	NM_133474		437142	-1	no_errors	ENST00000511833	ensembl	human	known	70_37	missense	SNP	0.000	A	A	437142	G	A	437142	3	1	147	1	0	0	0	0	1	0	0	0	18152	1144	40	2	1661	2	ZNF721	4	437142	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		437142	190717134	280	23534										
GAK	2580	genome.wustl.edu	37	chr4	907427	907427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctctgccactccccacatCttgagcttcatacacaaatg	4	16	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:907427C>G	ENST00000314167.4	-	2	285	c.175G>C	c.(175-177)Gat>Cat	p.D59H	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCCCACATCTTGAGCTTCA	0.373																																																	0													141	128	132					4																	907427		2203	4300	6503	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.175G>C	4.37:g.907427C>G	ENSP00000314499:p.Asp59His		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.D59H	ENST00000314167.4	37	c.175	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724132	0.68959	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000502656	D;D	0.83163	-1.69;-1.69	4.48	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88612	0.3157	10	0.87932	D	0	-25.6736	15.0112	0.71552	0.0:1.0:0.0:0.0	.	59	O14976	GAK_HUMAN	H	59	ENSP00000314499:D59H;ENSP00000424701:D59H	ENSP00000314499:D59H	D	-	1	0	GAK	897427	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.623000	0.74238	2.202000	0.70862	0.436000	0.28706	GAT	GAK	-	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		0.373	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	C	NM_005255		907427	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	missense	SNP	1.000	G	G	907427	C	G	907427	3	3	147	1	0	0	0	0	1	0	0	0	6214	913	32	1	3868	1	GAK	4	907427	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	470285	907427	190246849	281	23535										
MAEA	10296	genome.wustl.edu	37	chr4	1316232	1316232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggagtccctggagaggcgtGagacggccacctgcctggcc	16	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:1316232G>A	ENST00000303400.4	+	4	583	c.520G>A	c.(520-522)Gag>Aag	p.E174K	MAEA_ENST00000510794.1_Missense_Mutation_p.E173K|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.E126K|MAEA_ENST00000452175.2_Missense_Mutation_p.E95K|MAEA_ENST00000505177.2_Missense_Mutation_p.E174K	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	174	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	GGAGAGGCGTGAGACGGCCAC	0.597																																																	0													84	85	84					4																	1316232		2203	4300	6503	SO:0001583	missense	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.520G>A	4.37:g.1316232G>A	ENSP00000302830:p.Glu174Lys		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E174K	ENST00000303400.4	37	c.520	CCDS33936.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.088093	0.97271	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.47528	0.91;0.89;0.84;0.86;0.9;0.91	5.94	5.94	0.96194	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	L	0.58810	1.83	0.80722	D	1	D;P;P	0.59767	0.986;0.909;0.647	P;P;P	0.61003	0.882;0.837;0.688	T	0.61783	-0.6992	10	0.49607	T	0.09	-26.9369	20.3544	0.98835	0.0:0.0:1.0:0.0	.	173;174;174	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	K	174;174;174;153;106;95;173;126	ENSP00000302830:E174K;ENSP00000422215:E174K;ENSP00000421644:E174K;ENSP00000426903:E106K;ENSP00000411415:E95K;ENSP00000426807:E173K	ENSP00000302830:E174K	E	+	1	0	MAEA	1306232	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	9.307000	0.96226	2.817000	0.96982	0.655000	0.94253	GAG	MAEA	-	smart_CTLH_C,pfscan_CTLH_C		0.597	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	G	NM_005882		1316232	1	no_errors	ENST00000303400	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1316232	G	A	1316232	3	1	147	1	0	0	0	0	1	0	0	0	9176	1291	45	1	534	1	MAEA	4	1316232	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	408805	1316232	189838044	282	23536										
LETM1	3954	genome.wustl.edu	37	chr4	1824792	1824792	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcctcctgcagcgtggcctCcagcttggccttgttgtcca	10	16	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:1824792C>G	ENST00000302787.2	-	9	1695	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	467					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGCGTGGCCTCCAGCTTGGCC	0.637																																																	0													90	83	86					4																	1824792		2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1399G>C	4.37:g.1824792C>G	ENSP00000305653:p.Glu467Gln		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.E467Q	ENST00000302787.2	37	c.1399	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.071323	0.93950	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85673	0.1296	9	0.72032	D	0.01	-42.8047	18.2177	0.89892	0.0:1.0:0.0:0.0	.	467	O95202	LETM1_HUMAN	Q	467	.	ENSP00000305653:E467Q	E	-	1	0	LETM1	1794590	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.344000	0.79328	2.299000	0.77371	0.491000	0.48974	GAG	LETM1	-	NULL		0.637	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	C			1824792	-1	no_errors	ENST00000302787	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1824792	C	G	1824792	3	3	147	1	0	0	0	0	1	0	0	0	8754	864	30	1	844	1	LETM1	4	1824792	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	508560	1824792	189329484	283	23537										
FAM193A	8603	genome.wustl.edu	37	chr4	2632821	2632821	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgccgcaagcgcaccagttCatctccctcctgcttgagga	9	17	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:2632821C>G	ENST00000324666.5	+	3	441	c.90C>G	c.(88-90)ttC>ttG	p.F30L	FAM193A_ENST00000502458.1_Missense_Mutation_p.F30L|FAM193A_ENST00000545951.1_Missense_Mutation_p.F30L|FAM193A_ENST00000505311.1_Missense_Mutation_p.F30L|FAM193A_ENST00000382839.3_Missense_Mutation_p.F30L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	30										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CGCACCAGTTCATCTCCCTCC	0.617																																																	0													51	52	52					4																	2632821		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.90C>G	4.37:g.2632821C>G	ENSP00000324587:p.Phe30Leu		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.F30L	ENST00000324666.5	37	c.90	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619377	0.87460	.	.	ENSG00000125386	ENST00000509050;ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.62639	0.04;0.41;0.01;0.98	5.56	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.61703	1.905	0.58432	D	0.999994	P;P;P;P;P	0.46784	0.884;0.884;0.884;0.734;0.884	P;P;P;B;P	0.55455	0.776;0.776;0.776;0.391;0.776	T	0.69165	-0.5217	10	0.72032	D	0.01	-16.4408	8.0531	0.30589	0.0:0.7073:0.0:0.2927	.	30;30;30;30;30	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	L	30	ENSP00000372290:F30L;ENSP00000324587:F30L;ENSP00000443617:F30L;ENSP00000427505:F30L	ENSP00000324587:F30L	F	+	3	2	FAM193A	2602619	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.990000	0.49401	0.988000	0.38734	0.655000	0.94253	TTC	FAM193A	-	NULL		0.617	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2632821	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2632821	C	G	2632821	3	3	147	1	0	0	0	0	1	0	0	0	5539	825	29	1	92	1	FAM193A	4	2632821	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	808029	2632821	188521455	284	23538										
HGFAC	3083	genome.wustl.edu	37	chr4	3447863	3447863	+	Missense_Mutation	SNP	G	G	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctgcggcaggaggcacaaGaagaggacgttcctgcggcc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:3447863G>T	ENST00000382774.3	+	10	1312	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	HGFAC_ENST00000511533.1_Missense_Mutation_p.K406N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	399					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGAGGCACAAGAAGAGGACGT	0.682																																																	0													25	25	25					4																	3447863		2198	4294	6492	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1197G>T	4.37:g.3447863G>T	ENSP00000372224:p.Lys399Asn		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K399N	ENST00000382774.3	37	c.1197	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207603	0.22205	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88818	-2.43;-2.42	3.73	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);	0.203051	0.41194	D	0.000924	T	0.77110	0.4082	L	0.34521	1.04	0.45172	D	0.998186	P;B	0.35714	0.517;0.004	B;B	0.31245	0.126;0.006	T	0.67841	-0.5566	10	0.12766	T	0.61	.	5.8438	0.18652	0.2412:0.0:0.7588:0.0	.	406;399	D6RAR4;Q04756	.;HGFA_HUMAN	N	399;406	ENSP00000372224:K399N;ENSP00000421801:K406N	ENSP00000372224:K399N	K	+	3	2	HGFAC	3417661	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	2.272000	0.43373	0.784000	0.33661	-0.140000	0.14226	AAG	HGFAC	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA		0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3447863	1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3447863	G	T	3447863	3	4	147	1	0	0	0	0	1	0	0	0	7106	933	33	3	1235	3	HGFAC	4	3447863	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	815042	3447863	187706413	285	23539	130	2								
HGFAC	3083	genome.wustl.edu	37	chr4	3447866	3447866	+	Missense_Mutation	SNP	G	G	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcggcaggaggcacaagaaGaggacgttcctgcggccacg							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:3447866G>T	ENST00000382774.3	+	10	1315	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	HGFAC_ENST00000511533.1_Missense_Mutation_p.K407N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	400					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCACAAGAAGAGGACGTTCC	0.687																																																	0																																										SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1200G>T	4.37:g.3447866G>T	ENSP00000372224:p.Lys400Asn		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K400N	ENST00000382774.3	37	c.1200	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429632	0.43122	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.89050	-2.46;-2.46	3.73	1.89	0.25635	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	L	0.36672	1.1	0.43412	D	0.995552	D;B	0.89917	1.0;0.144	D;B	0.80764	0.994;0.098	D	0.85187	0.1007	10	0.52906	T	0.07	.	5.4667	0.16648	0.3963:0.0:0.6037:0.0	.	407;400	D6RAR4;Q04756	.;HGFA_HUMAN	N	400;407	ENSP00000372224:K400N;ENSP00000421801:K407N	ENSP00000372224:K400N	K	+	3	2	HGFAC	3417664	0.990000	0.36364	0.967000	0.41034	0.049000	0.14656	0.109000	0.15417	0.222000	0.20900	0.655000	0.94253	AAG	HGFAC	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA		0.687	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3447866	1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3447866	G	T	3447866	3	4	147	1	0	0	0	0	1	0	0	0	7106	933	33	3	1238	3	HGFAC	4	3447866	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3	3447866	187706410	286	23540	130	2								
OTOP1	133060	genome.wustl.edu	37	chr4	4190672	4190672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atccattgtcatactcaggtCgacagccaaaggcgggaggt	12	10	2	0	rs554408396		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:4190672C>G	ENST00000296358.4	-	6	1721	c.1697G>C	c.(1696-1698)cGa>cCa	p.R566P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	566					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTCAGGTCGACAGCCAAA	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											58	61	60					4																	4190672		2203	4300	6503	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1697G>C	4.37:g.4190672C>G	ENSP00000296358:p.Arg566Pro		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.R566P	ENST00000296358.4	37	c.1697	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757936	0.69648	.	.	ENSG00000163982	ENST00000296358	T	0.22539	1.95	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55095	-0.8194	10	0.87932	D	0	0.0829	15.7183	0.77688	0.0:1.0:0.0:0.0	.	566	Q7RTM1	OTOP1_HUMAN	P	566	ENSP00000296358:R566P	ENSP00000296358:R566P	R	-	2	0	OTOP1	4241573	1.000000	0.71417	0.968000	0.41197	0.763000	0.43281	5.386000	0.66238	1.998000	0.58463	0.536000	0.68110	CGA	OTOP1	-	pfam_Otopetrin		0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	C	NM_177998		4190672	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4190672	C	G	4190672	3	3	147	1	0	0	0	0	1	0	0	0	11329	884	31	1	145	1	OTOP1	4	4190672	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	742806	4190672	186963604	287	23541										
EVC2	132884	genome.wustl.edu	37	chr4	5620249	5620249	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggtccagcttcacgaactCtgcttctcgccacgcagtct	8	16	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:5620249C>T	ENST00000344408.5	-	15	2715	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	EVC2_ENST00000310917.2_Missense_Mutation_p.E808K|EVC2_ENST00000344938.1_Missense_Mutation_p.E888K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	888					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCACGAACTCTGCTTCTCGC	0.617																																																	0													54	52	53					4																	5620249		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2662G>A	4.37:g.5620249C>T	ENSP00000342144:p.Glu888Lys		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.E888K	ENST00000344408.5	37	c.2662	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056750	0.55325	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75477	-0.94;-0.93;-0.93	5.3	4.45	0.53987	.	0.561321	0.16859	N	0.196616	T	0.71576	0.3356	L	0.34521	1.04	0.30709	N	0.749429	D	0.62365	0.991	P	0.51016	0.656	T	0.69468	-0.5137	10	0.30854	T	0.27	-28.3704	13.7894	0.63131	0.0:0.8451:0.1549:0.0	.	888	Q86UK5	LBN_HUMAN	K	888;808;888	ENSP00000339954:E888K;ENSP00000311683:E808K;ENSP00000342144:E888K	ENSP00000311683:E808K	E	-	1	0	EVC2	5671150	0.986000	0.35501	0.349000	0.25694	0.024000	0.10985	2.912000	0.48782	1.225000	0.43566	0.655000	0.94253	GAG	EVC2	-	NULL		0.617	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	C	NM_147127		5620249	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	missense	SNP	0.961	T	T	5620249	C	T	5620249	3	4	147	1	0	0	0	0	1	0	0	0	5298	922	32	1	1296	1	EVC2	4	5620249	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1429577	5620249	185534027	288	23542										
EVC2	132884	genome.wustl.edu	37	chr4	5633675	5633675	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agctttggcaaagtcttcttCttgttgcaaagcgagagact	10	8	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:5633675C>T	ENST00000344408.5	-	11	1608	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	EVC2_ENST00000310917.2_Missense_Mutation_p.E439K|EVC2_ENST00000344938.1_Missense_Mutation_p.E519K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	519					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AAGTCTTCTTCTTGTTGCAAA	0.473																																																	0													97	98	98					4																	5633675		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1555G>A	4.37:g.5633675C>T	ENSP00000342144:p.Glu519Lys		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.E519K	ENST00000344408.5	37	c.1555	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434409	0.43224	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79749	-1.3;-1.3;-1.3	4.79	3.95	0.45737	.	0.130284	0.51477	D	0.000089	D	0.85660	0.5748	M	0.65498	2.005	0.21553	N	0.999641	D	0.56968	0.978	P	0.60236	0.871	T	0.77827	-0.2443	10	0.44086	T	0.13	-10.1231	12.5693	0.56328	0.0:0.9189:0.0:0.0811	.	519	Q86UK5	LBN_HUMAN	K	519;439;519	ENSP00000339954:E519K;ENSP00000311683:E439K;ENSP00000342144:E519K	ENSP00000311683:E439K	E	-	1	0	EVC2	5684576	0.998000	0.40836	0.004000	0.12327	0.020000	0.10135	4.478000	0.60230	1.132000	0.42129	-0.422000	0.05995	GAA	EVC2	-	pfam_Limbin		0.473	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	C	NM_147127		5633675	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	missense	SNP	0.400	T	T	5633675	C	T	5633675	3	4	147	1	0	0	0	0	1	0	0	0	5298	922	32	1	2419	1	EVC2	4	5633675	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	13426	5633675	185520601	289	23543										
PPP2R2C	5522	genome.wustl.edu	37	chr4	6331054	6331054	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcgttctcgtacagggaacaGagcttgctccgaaggtagtc	12	10	1	1	rs76426507		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:6331054G>C	ENST00000382599.4	-	8	1203	c.987C>G	c.(985-987)ctC>ctG	p.L329L	PPP2R2C_ENST00000515571.1_Silent_p.L312L|PPP2R2C_ENST00000335585.5_Silent_p.L329L|PPP2R2C_ENST00000507294.1_Silent_p.L322L|PPP2R2C_ENST00000506140.1_Silent_p.L322L			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	329					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ACAGGGAACAGAGCTTGCTCC	0.577																																																	0													197	153	168					4																	6331054		2203	4300	6503	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.987C>G	4.37:g.6331054G>C			A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L329	ENST00000382599.4	37	c.987		4																																																																																			PPP2R2C	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.577	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6331054	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	silent	SNP	0.997	C	C	6331054	G	C	6331054	2	2	147	1	0	0	0	0	0	0	0	1	12413	929	33	1		1	PPP2R2C	4	6331054	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	697379	6331054	184823222	290	23544										
AFAP1	60312	genome.wustl.edu	37	chr4	7787927	7787927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaagggcactcaccgagccGttgatgcacgggacatcgtc	12	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:7787927G>A	ENST00000360265.4	-	11	1758	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	AFAP1_ENST00000382543.3_Silent_p.N508N|AFAP1_ENST00000358461.2_Silent_p.N508N|AFAP1_ENST00000420658.1_Silent_p.N508N|AFAP1_ENST00000513842.1_5'UTR			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	508						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCACCGAGCCGTTGATGCACG	0.522																																																	0													92	91	92					4																	7787927		2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1524C>T	4.37:g.7787927G>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N508	ENST00000360265.4	37	c.1524	CCDS3397.1	4																																																																																			AFAP1	-	NULL		0.522	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	G	NM_021638		7787927	-1	no_errors	ENST00000420658	ensembl	human	known	70_37	silent	SNP	0.997	A	A	7787927	G	A	7787927	2	1	147	1	0	0	0	0	0	0	0	1	353	1136	40	2		2	AFAP1	4	7787927	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1456873	7787927	183366349	291	23545										
ZNF518B	85460	genome.wustl.edu	37	chr4	10446572	10446572	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attttttttctgaaaatcctCaattgtttccgaattaatga	4	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:10446572C>G	ENST00000326756.3	-	3	1819	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	461					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAAAATCCTCAATTGTTTCC	0.318																																																	0													56	60	59					4																	10446572		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1381G>C	4.37:g.10446572C>G	ENSP00000317614:p.Glu461Gln		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E461Q	ENST00000326756.3	37	c.1381	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513575	0.27123	.	.	ENSG00000178163	ENST00000326756	T	0.01665	4.7	5.43	2.16	0.27623	.	0.739206	0.11996	N	0.509282	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.49818	-0.8899	10	0.27082	T	0.32	-11.3742	4.094	0.09982	0.0:0.4838:0.1689:0.3472	.	461	Q9C0D4	Z518B_HUMAN	Q	461	ENSP00000317614:E461Q	ENSP00000317614:E461Q	E	-	1	0	ZNF518B	10055670	0.015000	0.18098	0.003000	0.11579	0.191000	0.23601	0.918000	0.28678	0.204000	0.20548	0.655000	0.94253	GAG	ZNF518B	-	NULL		0.318	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	C	NM_053042		10446572	-1	no_errors	ENST00000326756	ensembl	human	known	70_37	missense	SNP	0.000	G	G	10446572	C	G	10446572	3	3	147	1	0	0	0	0	1	0	0	0	17993	835	29	1	1847	1	ZNF518B	4	10446572	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2658645	10446572	180707704	292	23546										
BST1	683	genome.wustl.edu	37	chr4	15704793	15704793	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcccaggggtgcgcggcatCgcggctgctccagctgctgc	17	15	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:15704793C>G	ENST00000265016.4	+	1	221	c.26C>G	c.(25-27)tCg>tGg	p.S9W	BST1_ENST00000382346.3_Missense_Mutation_p.S9W	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	9					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TGCGCGGCATCGCGgctgctc	0.697																																																	0													4	5	5					4																	15704793		1937	4046	5983	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.26C>G	4.37:g.15704793C>G	ENSP00000265016:p.Ser9Trp		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.S9W	ENST00000265016.4	37	c.26	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713814	0.30413	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.15952	2.39;2.38	2.05	-4.11	0.03928	.	4.748740	0.01303	N	0.010348	T	0.12220	0.0297	L	0.50333	1.59	0.09310	N	1	D	0.53151	0.958	B	0.33042	0.157	T	0.36335	-0.9752	10	0.87932	D	0	0.3675	3.7969	0.08743	0.0:0.2521:0.3563:0.3915	.	9	Q10588	BST1_HUMAN	W	9	ENSP00000265016:S9W;ENSP00000371783:S9W	ENSP00000265016:S9W	S	+	2	0	BST1	15313891	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.744000	0.04839	-2.007000	0.00956	-0.362000	0.07510	TCG	BST1	-	NULL		0.697	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	C	NM_004334		15704793	1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	0.000	G	G	15704793	C	G	15704793	3	3	147	1	0	0	0	0	1	0	0	0	1536	893	31	1	28	1	BST1	4	15704793	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5258221	15704793	175449483	293	23547										
PROM1	8842	genome.wustl.edu	37	chr4	15995622	15995622	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctaattacctcattaatgttGagatgttcactgatattgaa	6	6	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:15995622G>C	ENST00000510224.1	-	16	2003	c.1755C>G	c.(1753-1755)ctC>ctG	p.L585L	PROM1_ENST00000540805.1_Silent_p.L585L|PROM1_ENST00000539194.1_Silent_p.L585L|PROM1_ENST00000543373.1_Silent_p.L576L|PROM1_ENST00000505450.1_Silent_p.L576L|PROM1_ENST00000447510.2_Silent_p.L585L|PROM1_ENST00000508167.1_Silent_p.L576L			O43490	PROM1_HUMAN	prominin 1	585					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CATTAATGTTGAGATGTTCAC	0.383																																																	0													219	216	217					4																	15995622		1909	4130	6039	SO:0001819	synonymous_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1755C>G	4.37:g.15995622G>C			Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	pfam_Prominin	p.L585	ENST00000510224.1	37	c.1755	CCDS47029.1	4																																																																																			PROM1	-	pfam_Prominin		0.383	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	G	NM_006017		15995622	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	silent	SNP	0.974	C	C	15995622	G	C	15995622	2	2	147	1	0	0	0	0	0	0	0	1	12582	1277	45	1		1	PROM1	4	15995622	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	290829	15995622	175158654	294	23548										
PROM1	8842	genome.wustl.edu	37	chr4	16025931	16025931	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tactcactgttcagatctgtGaacgccttgtccttggtagt	9	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:16025931G>C	ENST00000510224.1	-	7	929	c.681C>G	c.(679-681)ttC>ttG	p.F227L	PROM1_ENST00000540805.1_Missense_Mutation_p.F227L|PROM1_ENST00000539194.1_Missense_Mutation_p.F227L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Missense_Mutation_p.F218L|PROM1_ENST00000505450.1_Missense_Mutation_p.F218L|PROM1_ENST00000447510.2_Missense_Mutation_p.F227L|PROM1_ENST00000508167.1_Missense_Mutation_p.F218L			O43490	PROM1_HUMAN	prominin 1	227					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCAGATCTGTGAACGCCTTGT	0.373																																																	0													130	120	123					4																	16025931		1842	4097	5939	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.681C>G	4.37:g.16025931G>C	ENSP00000426809:p.Phe227Leu		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	pfam_Prominin	p.F227L	ENST00000510224.1	37	c.681	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	G	0.514	-0.865308	0.02590	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	4.74	-4.59	0.03400	.	0.478039	0.21740	N	0.069839	T	0.28101	0.0693	L	0.33093	0.98	0.09310	N	1	B;B;B;B;D;B	0.61697	0.013;0.013;0.006;0.013;0.99;0.004	B;B;B;B;P;B	0.54060	0.043;0.043;0.043;0.043;0.741;0.023	T	0.39187	-0.9626	10	0.13108	T	0.6	-0.6349	1.3132	0.02102	0.355:0.086:0.2797:0.2792	.	218;227;218;227;218;227	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	L	227;227;227;218;218;227;218	ENSP00000415481:F227L;ENSP00000438045:F227L;ENSP00000443620:F227L;ENSP00000426090:F218L;ENSP00000427346:F218L;ENSP00000426809:F227L;ENSP00000445526:F218L	ENSP00000415481:F227L	F	-	3	2	PROM1	15635029	0.135000	0.22499	0.000000	0.03702	0.068000	0.16541	-0.074000	0.11450	-0.677000	0.05231	0.561000	0.74099	TTC	PROM1	-	pfam_Prominin		0.373	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	G	NM_006017		16025931	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	missense	SNP	0.000	C	C	16025931	G	C	16025931	3	2	147	1	0	0	0	0	1	0	0	0	12582	1281	45	1	2000	1	PROM1	4	16025931	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	30309	16025931	175128345	295	23549										
CCDC149	91050	genome.wustl.edu	37	chr4	24810020	24810020	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctctccccttcaggttttCacggtgctcctcatgcctcc	6	19	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:24810020C>G	ENST00000389609.4	-	13	1724	c.1581G>C	c.(1579-1581)gtG>gtC	p.V527V	CCDC149_ENST00000504487.1_Silent_p.V527V|CCDC149_ENST00000428116.2_3'UTR|CCDC149_ENST00000502801.1_3'UTR	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	472										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTCAGGTTTTCACGGTGCTCC	0.587																																																	0													29	26	27					4																	24810020		692	1591	2283	SO:0001819	synonymous_variant	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1581G>C	4.37:g.24810020C>G			A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.V527	ENST00000389609.4	37	c.1581	CCDS33967.2	4																																																																																			CCDC149	-	NULL		0.587	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	C	NM_173463		24810020	-1	no_errors	ENST00000504487	ensembl	human	known	70_37	silent	SNP	0.152	G	G	24810020	C	G	24810020	2	3	147	1	0	0	0	0	0	0	0	1	2788	813	29	1		1	CCDC149	4	24810020	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8784089	24810020	166344256	296	23550										
KIT	3815	genome.wustl.edu	37	chr4	55603353	55603353	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcttgcaggtatgacataatGaagacttgctgggatgcaga	12	6	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:55603353G>A	ENST00000288135.5	+	20	2806	c.2709G>A	c.(2707-2709)atG>atA	p.M903I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	903	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGACATAATGAAGACTTGCT	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													125	109	114					4																	55603353		2203	4300	6503	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2709G>A	4.37:g.55603353G>A	ENSP00000288135:p.Met903Ile		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.M903I	ENST00000288135.5	37	c.2709	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058650	0.76074	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85773	-2.03;-2.03	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.157328	0.43919	D	0.000511	D	0.87128	0.6100	L	0.32530	0.975	0.80722	D	1	P;P	0.50443	0.935;0.715	P;B	0.55508	0.777;0.351	D	0.88290	0.2942	10	0.87932	D	0	.	19.6218	0.95660	0.0:0.0:1.0:0.0	.	899;903	P10721-2;P10721	.;KIT_HUMAN	I	903;899	ENSP00000288135:M903I;ENSP00000390987:M899I	ENSP00000288135:M903I	M	+	3	0	KIT	55298110	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.869000	0.99810	2.716000	0.92895	0.650000	0.86243	ATG	KIT	-	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,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	G			55603353	1	no_errors	ENST00000288135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	55603353	G	A	55603353	3	1	147	1	0	0	0	0	1	0	0	0	8349	1290	45	1	2787	1	KIT	4	55603353	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	30793333	55603353	135550923	297	23551										
KDR	3791	genome.wustl.edu	37	chr4	55946116	55946116	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggatgcttccttttaaacagGaggagagctcagtgtggtcc	13	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:55946116G>C	ENST00000263923.4	-	30	4358	c.4063C>G	c.(4063-4065)Cct>Gct	p.P1355A	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1355					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P1355del(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTAAACAGGAGGAGAGCTC	0.502			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Deletion - In frame(1)	lung(1)											141	137	139					4																	55946116		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.4063C>G	4.37:g.55946116G>C	ENSP00000263923:p.Pro1355Ala		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.P1355A	ENST00000263923.4	37	c.4063	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	G	5.472	0.272064	0.10349	.	.	ENSG00000128052	ENST00000263923	T	0.74421	-0.84	5.1	3.31	0.37934	.	0.064498	0.64402	N	0.000007	T	0.68668	0.3026	M	0.64997	1.995	0.38861	D	0.956473	B	0.06786	0.001	B	0.06405	0.002	T	0.69128	-0.5227	10	0.52906	T	0.07	.	9.6832	0.40082	0.0765:0.1394:0.7841:0.0	.	1355	P35968	VGFR2_HUMAN	A	1355	ENSP00000263923:P1355A	ENSP00000263923:P1355A	P	-	1	0	KDR	55640873	0.997000	0.39634	1.000000	0.80357	0.008000	0.06430	0.167000	0.16602	1.356000	0.45884	0.650000	0.86243	CCT	KDR	-	NULL		0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	G			55946116	-1	no_errors	ENST00000263923	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55946116	G	C	55946116	3	2	147	1	0	0	0	0	1	0	0	0	8159	1174	41	1	11	1	KDR	4	55946116	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	342763	55946116	135208160	298	23552										
PAICS	10606	genome.wustl.edu	37	chr4	57312951	57312951	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aattgaatgggtttgcagaaGaatagcaactggttcttttc	10	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:57312951G>A	ENST00000512576.1	+	3	466	c.305G>A	c.(304-306)aGa>aAa	p.R102K	PAICS_ENST00000399688.3_Missense_Mutation_p.R109K|PAICS_ENST00000514888.1_Missense_Mutation_p.R10K|PAICS_ENST00000264221.2_Missense_Mutation_p.R102K	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	102	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	GTTTGCAGAAGAATAGCAACT	0.378																																					GBM(53;429 1144 8755 40726)												0													47	45	46					4																	57312951		1843	4089	5932	SO:0001583	missense	10606			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.305G>A	4.37:g.57312951G>A	ENSP00000421096:p.Arg102Lys		E9PDH9|Q68CQ5	Missense_Mutation	SNP	pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom	p.R102K	ENST00000512576.1	37	c.305	CCDS47061.1	4	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469418	0.84533	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.43	5.43	0.79202	ATP-grasp fold, subdomain 2 (1);SAICAR synthetase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.65498	2.005	0.80722	D	1	B;B;B	0.24675	0.109;0.089;0.109	B;B;B	0.37451	0.25;0.162;0.25	T	0.54125	-0.8340	10	0.62326	D	0.03	-18.2181	19.6103	0.95602	0.0:0.0:1.0:0.0	.	102;109;102	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	K	10;102;102;109;102	ENSP00000424907:R10K;ENSP00000264221:R102K;ENSP00000424053:R102K;ENSP00000382595:R109K;ENSP00000421096:R102K	ENSP00000264221:R102K	R	+	2	0	PAICS	57007708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.835000	0.99442	2.718000	0.92993	0.585000	0.79938	AGA	PAICS	-	pfam_SAICAR_synth		0.378	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAICS	HGNC	protein_coding	OTTHUMT00000363136.2	G	NM_006452		57312951	1	no_errors	ENST00000264221	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57312951	G	A	57312951	3	1	147	1	0	0	0	0	1	0	0	0	11419	942	33	1	340	1	PAICS	4	57312951	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1366835	57312951	133841325	299	23553										
C4orf14	84273	genome.wustl.edu	37	chr4	57829794	57829794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatagcctcggagatgcagtCtgtccttaaaattaggtgtt	10	7	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:57829794C>G	ENST00000264230.4	-	7	3156	c.1919G>C	c.(1918-1920)aGa>aCa	p.R640T	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	640					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GAGATGCAGTCTGTCCTTAAA	0.423																																																	0													74	77	76					4																	57829794		2203	4300	6503	SO:0001583	missense	84273			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1919G>C	4.37:g.57829794C>G	ENSP00000264230:p.Arg640Thr		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.R640T	ENST00000264230.4	37	c.1919	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231785	0.22626	.	.	ENSG00000084092	ENST00000264230	T	0.31510	1.49	5.41	-2.36	0.06663	.	0.484715	0.22562	N	0.058445	T	0.13030	0.0316	N	0.17474	0.49	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.29852	-0.9998	10	0.13853	T	0.58	.	7.343	0.26648	0.0:0.1786:0.5283:0.2931	.	640	Q8NC60	CD014_HUMAN	T	640	ENSP00000264230:R640T	ENSP00000264230:R640T	R	-	2	0	C4orf14	57524551	0.944000	0.32072	0.853000	0.33588	0.858000	0.48976	0.107000	0.15375	-0.165000	0.10908	0.655000	0.94253	AGA	NOA1	-	NULL		0.423	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	C	NM_032313		57829794	-1	no_errors	ENST00000264230	ensembl	human	known	70_37	missense	SNP	0.355	G	G	57829794	C	G	57829794	3	3	147	1	0	0	0	0	1	0	0	0	2256	913	32	1	181	1	C4orf14	4	57829794	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	516843	57829794	133324482	300	23554										
POLR2B	5431	genome.wustl.edu	37	chr4	57876625	57876625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctagcaaaaccaagacagttGcataatacgttgtggggaat	10	7	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:57876625G>A	ENST00000381227.1	+	12	1916	c.1503G>A	c.(1501-1503)ttG>ttA	p.L501L	POLR2B_ENST00000441246.2_Silent_p.L494L|POLR2B_ENST00000431623.2_Silent_p.L426L|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.L501L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	501					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CAAGACAGTTGCATAATACGT	0.443																																																	0													123	123	123					4																	57876625		2203	4300	6503	SO:0001819	synonymous_variant	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1503G>A	4.37:g.57876625G>A			A8K1A8|Q8IZ61	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.L501	ENST00000381227.1	37	c.1503	CCDS3511.1	4																																																																																			POLR2B	-	pfam_RNA_pol_Rpb2_3		0.443	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	G	NM_000938		57876625	1	no_errors	ENST00000314595	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57876625	G	A	57876625	2	1	147	1	0	0	0	0	0	0	0	1	12239	1310	46	4		4	POLR2B	4	57876625	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	46831	57876625	133277651	301	23555										
SULT1B1	27284	genome.wustl.edu	37	chr4	70599967	70599967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaaacatccttggcattacGagccagataaatcatctgca	7	10	2	2	rs540095455		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:70599967G>A	ENST00000310613.3	-	5	688	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTGGCATTACGAGCCAGATAA	0.353																																																	0													27	28	27					4																	70599967		2201	4298	6499	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.391C>T	4.37:g.70599967G>A	ENSP00000308770:p.Arg131Cys		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R131C	ENST00000310613.3	37	c.391	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360745	0.41801	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	T;T	0.33438	1.41;1.41	4.67	1.83	0.25207	Sulfotransferase domain (1);	0.000000	0.43919	D	0.000503	T	0.69895	0.3162	H	0.99777	4.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.69789	-0.5050	10	0.87932	D	0	.	6.6707	0.23066	0.0881:0.0:0.5986:0.3133	.	131	O43704	ST1B1_HUMAN	C	131	ENSP00000308770:R131C;ENSP00000425464:R131C	ENSP00000308770:R131C	R	-	1	0	SULT1B1	70634556	0.984000	0.35163	0.979000	0.43373	0.124000	0.20399	0.913000	0.28611	0.104000	0.17725	0.460000	0.39030	CGT	SULT1B1	-	pfam_Sulfotransferase_dom		0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	G	NM_014465		70599967	-1	no_errors	ENST00000310613	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70599967	G	A	70599967	3	1	147	1	0	0	0	0	1	0	0	0	15406	1058	37	1	515	1	SULT1B1	4	70599967	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12723342	70599967	120554309	302	23556										
SLC4A4	8671	genome.wustl.edu	37	chr4	72319242	72319242	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggactaattaaagacataaaGaggaaagcgccattttttgc	9	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:72319242G>C	ENST00000264485.5	+	12	1470	c.1353G>C	c.(1351-1353)aaG>aaC	p.K451N	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.K407N|SLC4A4_ENST00000340595.3_Missense_Mutation_p.K407N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.K451N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.K451N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	451					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGACATAAAGAGGAAAGCGC	0.348																																																	0													189	192	191					4																	72319242		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1353G>C	4.37:g.72319242G>C	ENSP00000264485:p.Lys451Asn		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.K451N	ENST00000264485.5	37	c.1353	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871172	0.72065	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	6.03	6.03	0.97812	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.993;0.99;0.976;0.997	D;D;D;P;D;D	0.85130	0.987;0.997;0.927;0.864;0.93;0.981	D	0.93900	0.7187	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	451;451;407;407;431;451	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	N	451;451;451;407;407	ENSP00000264485:K451N;ENSP00000393557:K451N;ENSP00000307349:K451N;ENSP00000422400:K407N;ENSP00000344272:K407N	ENSP00000264485:K451N	K	+	3	2	SLC4A4	72538106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.618000	0.46393	2.861000	0.98227	0.655000	0.94253	AAG	SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.348	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72319242	1	no_errors	ENST00000425175	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72319242	G	C	72319242	3	2	147	1	0	0	0	0	1	0	0	0	14686	933	33	1	1516	1	SLC4A4	4	72319242	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1719275	72319242	118835034	303	23557										
SLC4A4	8671	genome.wustl.edu	37	chr4	72412243	72412243	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaccaaagtttctaggagtGaggtgtgttaactcagagga	12	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:72412243G>A	ENST00000264485.5	+	19	2736	c.2619G>A	c.(2617-2619)gtG>gtA	p.V873V	SLC4A4_ENST00000340595.3_Silent_p.V829V|SLC4A4_ENST00000425175.1_Silent_p.V873V|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	873					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTCTAGGAGTGAGGTGTGTTA	0.473																																																	0													69	57	61					4																	72412243		2203	4300	6503	SO:0001819	synonymous_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2619G>A	4.37:g.72412243G>A			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.V873	ENST00000264485.5	37	c.2619	CCDS43236.1	4																																																																																			SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.473	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72412243	1	no_errors	ENST00000425175	ensembl	human	known	70_37	silent	SNP	0.988	A	A	72412243	G	A	72412243	2	1	147	1	0	0	0	0	0	0	0	1	14686	1277	45	1		1	SLC4A4	4	72412243	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	93001	72412243	118742033	304	23558										
CXCL3	2921	genome.wustl.edu	37	chr4	74903836	74903836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtatcttttcgatgattttCtgaaccatgggggatgcggg	13	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:74903836C>T	ENST00000296026.4	-	3	359	c.282G>A	c.(280-282)caG>caA	p.Q94Q	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	94					immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			CGATGATTTTCTGAACCATGG	0.488																																																	0													88	87	88					4																	74903836		2203	4300	6503	SO:0001819	synonymous_variant	2921			M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"Endogenous ligands"	4604	protein-coding gene	gene with protein product		139111	"GRO3 oncogene"	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.282G>A	4.37:g.74903836C>T			Q4W5H9	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.Q94	ENST00000296026.4	37	c.282	CCDS34007.1	4																																																																																			CXCL3	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC		0.488	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL3	HGNC	protein_coding	OTTHUMT00000362721.1	C			74903836	-1	no_errors	ENST00000296026	ensembl	human	known	70_37	silent	SNP	0.824	T	T	74903836	C	T	74903836	2	4	147	1	0	0	0	0	0	0	0	1	4091	912	32	1		1	CXCL3	4	74903836	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2491593	74903836	116250440	305	23559										
CCDC158	339965	genome.wustl.edu	37	chr4	77305711	77305711	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatttcacaaatcccaacctGatgtcagccatagcatctct	4	13	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:77305711G>C	ENST00000388914.3	-	4	548	c.396C>G	c.(394-396)atC>atG	p.I132M	CCDC158_ENST00000434846.2_Missense_Mutation_p.I132M	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	132										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATCCCAACCTGATGTCAGCCA	0.308																																																	0													127	119	121					4																	77305711		1848	4104	5952	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.396C>G	4.37:g.77305711G>C	ENSP00000373566:p.Ile132Met		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.I132M	ENST00000388914.3	37	c.396	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203896	0.58234	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.42513	0.99;0.97	5.72	4.88	0.63580	.	0.105490	0.42420	D	0.000710	T	0.47340	0.1440	N	0.19112	0.55	0.30192	N	0.799429	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.931	T	0.48514	-0.9029	10	0.40728	T	0.16	.	11.9185	0.52779	0.0815:0.0:0.9185:0.0	.	132;132	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	M	132	ENSP00000373566:I132M;ENSP00000401742:I132M	ENSP00000316815:I132M	I	-	3	3	CCDC158	77524735	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.662000	0.37418	1.436000	0.47453	0.655000	0.94253	ATC	CCDC158	-	NULL		0.308	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	G	NM_001042784		77305711	-1	no_errors	ENST00000388914	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77305711	G	C	77305711	3	2	147	1	0	0	0	0	1	0	0	0	2795	1280	45	1	3029	1	CCDC158	4	77305711	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2401875	77305711	113848565	306	23560										
CCNG2	901	genome.wustl.edu	37	chr4	78082834	78082834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccttgtgccttctcaatttGgaagtggaaactttgaaatc	9	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:78082834G>A	ENST00000316355.5	+	6	995	c.639G>A	c.(637-639)ttG>ttA	p.L213L	CCNG2_ENST00000354403.5_Silent_p.L213L|CCNG2_ENST00000502280.1_Silent_p.L213L|CCNG2_ENST00000395640.1_Silent_p.L213L|CCNG2_ENST00000509972.1_Silent_p.L213L|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	213					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTCAATTTGGAAGTGGAAA	0.269																																																	0													65	68	67					4																	78082834		2203	4299	6502	SO:0001819	synonymous_variant	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.639G>A	4.37:g.78082834G>A			B4DF25|Q6FGA7|Q6FGC6	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L213	ENST00000316355.5	37	c.639	CCDS3581.1	4																																																																																			CCNG2	-	NULL		0.269	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG2	HGNC	protein_coding	OTTHUMT00000252404.3	G	NM_004354		78082834	1	no_errors	ENST00000316355	ensembl	human	known	70_37	silent	SNP	1.000	A	A	78082834	G	A	78082834	2	1	147	1	0	0	0	0	0	0	0	1	2929	1339	47	4		4	CCNG2	4	78082834	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	777123	78082834	113071442	307	23561										
ANXA3	306	genome.wustl.edu	37	chr4	79475635	79475635	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggtgggatatcatggcatCtatctgggtaagtaaaaatt	11	4	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:79475635C>G	ENST00000264908.6	+	2	387	c.8C>G	c.(7-9)tCt>tGt	p.S3C	ANXA3_ENST00000512884.1_5'UTR|ANXA3_ENST00000503570.2_5'UTR	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	3					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATCATGGCATCTATCTGGGTA	0.333																																					GBM(2;126 157 27790 28920 42492)												0													140	131	134					4																	79475635		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.8C>G	4.37:g.79475635C>G	ENSP00000264908:p.Ser3Cys		B2R9W6|Q6LET2	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.S3C	ENST00000264908.6	37	c.8	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078308	0.36662	.	.	ENSG00000138772	ENST00000264908;ENST00000512542;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T;T	0.23348	4.44;1.91;3.46;3.46;3.46	4.52	4.52	0.55395	.	0.727365	0.12221	N	0.488362	T	0.22551	0.0544	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.04593	-1.0940	10	0.72032	D	0.01	.	12.9133	0.58192	0.0:1.0:0.0:0.0	.	3	P12429	ANXA3_HUMAN	C	3	ENSP00000264908:S3C;ENSP00000426591:S3C;ENSP00000424584:S3C;ENSP00000421512:S3C;ENSP00000422281:S3C	ENSP00000264908:S3C	S	+	2	0	ANXA3	79694659	0.715000	0.27946	0.255000	0.24374	0.979000	0.70002	3.233000	0.51311	2.516000	0.84829	0.591000	0.81541	TCT	ANXA3	-	NULL		0.333	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	HGNC	protein_coding	OTTHUMT00000252516.3	C	NM_005139		79475635	1	no_errors	ENST00000264908	ensembl	human	known	70_37	missense	SNP	0.315	G	G	79475635	C	G	79475635	3	3	147	1	0	0	0	0	1	0	0	0	719	913	32	1	10	1	ANXA3	4	79475635	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1392801	79475635	111678641	308	23562										
LIN54	132660	genome.wustl.edu	37	chr4	83905683	83905683	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgatatagtcacaggagtCtgagcaccaagtttttgaag	11	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:83905683C>T	ENST00000340417.3	-	2	692	c.315G>A	c.(313-315)caG>caA	p.Q105Q	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Silent_p.Q105Q|LIN54_ENST00000395282.2_Silent_p.Q105Q|LIN54_ENST00000506560.1_Silent_p.Q105Q|LIN54_ENST00000395283.2_Silent_p.Q105Q	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	105					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCACAGGAGTCTGAGCACCAA	0.388																																																	0													222	222	222					4																	83905683		2203	4300	6503	SO:0001819	synonymous_variant	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.315G>A	4.37:g.83905683C>T			Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	pfam_CRC	p.Q105	ENST00000340417.3	37	c.315	CCDS3599.1	4																																																																																			LIN54	-	NULL		0.388	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2	C	NM_194282		83905683	-1	no_errors	ENST00000340417	ensembl	human	known	70_37	silent	SNP	1.000	T	T	83905683	C	T	83905683	2	4	147	1	0	0	0	0	0	0	0	1	8830	912	32	1		1	LIN54	4	83905683	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4430048	83905683	107248593	309	23563										
PTPN13	5783	genome.wustl.edu	37	chr4	87707030	87707030	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agatgaatgggaagttatcaGaagagagaacagaagataca	12	3	1	7			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:87707030G>C	ENST00000411767.2	+	40	6349	c.6286G>C	c.(6286-6288)Gaa>Caa	p.E2096Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.E1905Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E2101Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2077Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2101Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2096					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAAGTTATCAGAAGAGAGAAC	0.358																																																	0													71	63	66					4																	87707030		1863	4084	5947	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6286G>C	4.37:g.87707030G>C	ENSP00000407249:p.Glu2096Gln		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E2101Q	ENST00000411767.2	37	c.6301	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231410	0.39399	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53857	0.6;0.63;0.71;0.6;0.63	4.92	4.92	0.64577	.	0.134423	0.33217	N	0.005145	T	0.70422	0.3222	M	0.72118	2.19	0.25442	N	0.988089	P;D;D;D	0.89917	0.911;1.0;0.999;1.0	P;D;D;D	0.71414	0.474;0.973;0.939;0.973	T	0.63545	-0.6613	10	0.28530	T	0.3	.	18.0781	0.89433	0.0:0.0:1.0:0.0	.	1905;2077;2096;2101	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	2077;2101;1905;2096;2101;2045	ENSP00000408368:E2077Q;ENSP00000394794:E2101Q;ENSP00000322675:E1905Q;ENSP00000407249:E2096Q;ENSP00000426626:E2101Q	ENSP00000322675:E1905Q	E	+	1	0	PTPN13	87926054	1.000000	0.71417	0.358000	0.25811	0.186000	0.23388	4.331000	0.59273	2.418000	0.82041	0.460000	0.39030	GAA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87707030	1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	0.676	C	C	87707030	G	C	87707030	3	2	147	1	0	0	0	0	1	0	0	0	12810	943	33	1	6455	1	PTPN13	4	87707030	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3801347	87707030	103447246	310	23564										
DSPP	1834	genome.wustl.edu	37	chr4	88536350	88536350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgatagcagcgacagcagcGatagcagtgacggcagtgat	15	8	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:88536350G>A	ENST00000282478.7	+	4	2569	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D846N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	846	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cgacagcagcgatagcagtga	0.507																																																	0													83	105	97					4																	88536350		1650	2955	4605	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2536G>A	4.37:g.88536350G>A	ENSP00000282478:p.Asp846Asn		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D846N	ENST00000282478.7	37	c.2536	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	5.692	0.312319	0.10789	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87650	-2.28;-2.28	0.918	0.918	0.19386	.	.	.	.	.	T	0.71904	0.3395	L	0.31926	0.97	0.18873	N	0.999987	P	0.36065	0.535	B	0.22386	0.039	T	0.58205	-0.7677	9	0.14656	T	0.56	.	5.1892	0.15201	0.0:0.0:1.0:0.0	.	846	Q9NZW4	DSPP_HUMAN	N	846	ENSP00000382213:D846N;ENSP00000282478:D846N	ENSP00000282478:D846N	D	+	1	0	DSPP	88755374	0.200000	0.23398	0.160000	0.22671	0.006000	0.05464	0.907000	0.28531	0.792000	0.33850	0.165000	0.16767	GAT	DSPP	-	NULL		0.507	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	G	NM_014208		88536350	1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.996	A	A	88536350	G	A	88536350	3	1	147	1	0	0	0	0	1	0	0	0	4792	1058	37	1	2550	1	DSPP	4	88536350	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	829320	88536350	102617926	311	23565										
MEPE	56955	genome.wustl.edu	37	chr4	88767194	88767194	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggcagtagtgatgcagctGaaagtaccaactataatgaa	10	6	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:88767194G>A	ENST00000424957.3	+	4	1247	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	MEPE_ENST00000560249.1_Missense_Mutation_p.E279K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.E392K|MEPE_ENST00000540395.1_Missense_Mutation_p.E279K|MEPE_ENST00000497649.2_Missense_Mutation_p.E368K|MEPE_ENST00000395102.4_Missense_Mutation_p.E423K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	392					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGATGCAGCTGAAAGTACCAA	0.413																																																	0													71	69	70					4																	88767194		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1174G>A	4.37:g.88767194G>A	ENSP00000416984:p.Glu392Lys		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.E392K	ENST00000424957.3	37	c.1174	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385376	0.25031	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.56611	4.36;0.48;0.45;0.47;4.36	4.99	-0.0862	0.13682	.	0.820976	0.10720	N	0.641892	T	0.41026	0.1141	L	0.55834	1.745	0.09310	N	1	B	0.29805	0.257	B	0.23275	0.045	T	0.20273	-1.0280	10	0.35671	T	0.21	-6.7865	6.0794	0.19933	0.1875:0.4557:0.3568:0.0	.	392	Q9NQ76	MEPE_HUMAN	K	392;423;368;279;392	ENSP00000416984:E392K;ENSP00000378534:E423K;ENSP00000422747:E368K;ENSP00000443491:E279K;ENSP00000354341:E392K	ENSP00000354341:E392K	E	+	1	0	MEPE	88986218	0.013000	0.17824	0.000000	0.03702	0.009000	0.06853	0.266000	0.18534	-0.248000	0.09583	-0.165000	0.13383	GAA	MEPE	-	NULL		0.413	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	G			88767194	1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.000	A	A	88767194	G	A	88767194	3	1	147	1	0	0	0	0	1	0	0	0	9501	1291	45	1	1184	1	MEPE	4	88767194	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	230844	88767194	102387082	312	23566										
HERC6	55008	genome.wustl.edu	37	chr4	89363429	89363429	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcatgcaagaggcatacaGaaaatggaaatagtatttcg	10	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:89363429G>A	ENST00000264346.7	+	23	2945	c.2886G>A	c.(2884-2886)caG>caA	p.Q962Q	HERC6_ENST00000380265.5_Silent_p.Q926Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	962	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q962H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGGCATACAGAAAATGGAAA	0.343																																																	1	Substitution - Missense(1)	lung(1)											73	68	69					4																	89363429		1862	4103	5965	SO:0001819	synonymous_variant	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2886G>A	4.37:g.89363429G>A			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q962	ENST00000264346.7	37	c.2886	CCDS47098.1	4																																																																																			HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.343	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	G			89363429	1	no_errors	ENST00000264346	ensembl	human	known	70_37	silent	SNP	0.000	A	A	89363429	G	A	89363429	2	1	147	1	0	0	0	0	0	0	0	1	7082	933	33	1		1	HERC6	4	89363429	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	596235	89363429	101790847	313	23567										
HERC5	51191	genome.wustl.edu	37	chr4	89407319	89407319	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attttccaagtagacgaactCttgcaccgtctcaatttttt	5	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:89407319C>G	ENST00000264350.3	+	14	1944	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	HERC5_ENST00000508159.1_Silent_p.L235L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	597					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L597L(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TAGACGAACTCTTGCACCGTC	0.328																																					Esophageal Squamous(39;887 1012 34045 50514)												1	Substitution - coding silent(1)	large_intestine(1)											135	137	136					4																	89407319		2203	4300	6503	SO:0001819	synonymous_variant	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1791C>G	4.37:g.89407319C>G			B2RTQ1|Q69G20	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L597	ENST00000264350.3	37	c.1791	CCDS3630.1	4																																																																																			HERC5	-	NULL		0.328	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	C	NM_016323		89407319	1	no_errors	ENST00000264350	ensembl	human	known	70_37	silent	SNP	0.170	G	G	89407319	C	G	89407319	2	3	147	1	0	0	0	0	0	0	0	1	7081	900	32	1		1	HERC5	4	89407319	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	43890	89407319	101746957	314	23568										
RG9MTD2	93587	genome.wustl.edu	37	chr4	100472125	100472125	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catgattgattccataatctGacgcttgtttatatgtgagt	8	6	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:100472125G>A	ENST00000273962.3	-	7	980	c.668C>T	c.(667-669)tCa>tTa	p.S223L	TRMT10A_ENST00000394876.2_Missense_Mutation_p.S223L|TRMT10A_ENST00000394877.3_Missense_Mutation_p.S223L	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	223	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCCATAATCTGACGCTTGTTT	0.318																																																	0													93	86	88					4																	100472125		2203	4300	6503	SO:0001583	missense	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.668C>T	4.37:g.100472125G>A	ENSP00000273962:p.Ser223Leu		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.S223L	ENST00000273962.3	37	c.668	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254493	0.39896	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.19938	2.11;2.11;2.11	5.86	5.01	0.66863	.	0.461951	0.24085	N	0.041690	T	0.10035	0.0246	N	0.12637	0.245	0.24656	N	0.993494	B	0.09022	0.002	B	0.15052	0.012	T	0.09907	-1.0653	10	0.36615	T	0.2	-9.1086	3.7094	0.08414	0.1975:0.0:0.5965:0.206	.	223	Q8TBZ6	RG9D2_HUMAN	L	223	ENSP00000378343:S223L;ENSP00000273962:S223L;ENSP00000378342:S223L	ENSP00000273962:S223L	S	-	2	0	RG9MTD2	100691148	0.946000	0.32159	1.000000	0.80357	0.997000	0.91878	3.225000	0.51246	2.771000	0.95319	0.650000	0.86243	TCA	TRMT10A	-	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10		0.318	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	G	NM_152292		100472125	-1	no_errors	ENST00000273962	ensembl	human	known	70_37	missense	SNP	0.991	A	A	100472125	G	A	100472125	3	1	147	1	0	0	0	0	1	0	0	0	13302	1294	45	1	359	1	RG9MTD2	4	100472125	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	11064806	100472125	90682151	315	23569										
MTTP	4547	genome.wustl.edu	37	chr4	100516030	100516030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttccagagccactgtaaagGatgtccttctgtaagtgcag	10	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:100516030G>A	ENST00000265517.5	+	7	1102	c.899G>A	c.(898-900)gGa>gAa	p.G300E	MTTP_ENST00000511045.1_Missense_Mutation_p.G327E|MTTP_ENST00000457717.1_Missense_Mutation_p.G300E|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	300	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CACTGTAAAGGATGTCCTTCT	0.433																																																	0													97	90	92					4																	100516030		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.899G>A	4.37:g.100516030G>A	ENSP00000265517:p.Gly300Glu		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G300E	ENST00000265517.5	37	c.899	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	G	7.290	0.610851	0.14066	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.39056	1.1;1.1;1.1	4.96	2.25	0.28309	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (1);	0.521762	0.23211	N	0.050677	T	0.32436	0.0829	M	0.64997	1.995	0.29750	N	0.836428	B;B	0.14012	0.009;0.004	B;B	0.17098	0.017;0.007	T	0.33828	-0.9853	10	0.07030	T	0.85	-27.7151	7.4397	0.27176	0.3943:0.0:0.6057:0.0	.	327;300	E9PBP6;P55157	.;MTP_HUMAN	E	327;300;300;300	ENSP00000427679:G327E;ENSP00000400821:G300E;ENSP00000265517:G300E	ENSP00000265517:G300E	G	+	2	0	MTTP	100735053	0.947000	0.32204	0.841000	0.33234	0.184000	0.23303	2.748000	0.47483	0.603000	0.29913	0.563000	0.77884	GGA	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	G			100516030	1	no_errors	ENST00000265517	ensembl	human	known	70_37	missense	SNP	0.506	A	A	100516030	G	A	100516030	3	1	147	1	0	0	0	0	1	0	0	0	9987	1174	41	1	925	1	MTTP	4	100516030	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	43905	100516030	90638246	316	23570										
NHEDC2	133308	genome.wustl.edu	37	chr4	103987634	103987634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctgttggttcatttgcatCtatacctttgagcttcataa	6	8	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:103987634C>G	ENST00000394785.3	-	3	752	c.121G>C	c.(121-123)Gat>Cat	p.D41H	SLC9B2_ENST00000362026.3_Missense_Mutation_p.D41H|SLC9B2_ENST00000503103.1_Missense_Mutation_p.D41H|SLC9B2_ENST00000339611.4_Missense_Mutation_p.D41H|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.D41H	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	41					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										TCATTTGCATCTATACCTTTG	0.323																																																	0													157	142	147					4																	103987634		2203	4299	6502	SO:0001583	missense	133308			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.121G>C	4.37:g.103987634C>G	ENSP00000378265:p.Asp41His		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.D41H	ENST00000394785.3	37	c.121	CCDS3662.1	4	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719427	0.48728	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.42900	1.8;1.76;1.8;0.96;0.97	3.44	3.44	0.39384	.	0.305502	0.22512	N	0.059081	T	0.49218	0.1544	L	0.56769	1.78	0.25337	N	0.988986	D;D;D	0.58970	0.984;0.984;0.957	P;P;P	0.52066	0.689;0.574;0.579	T	0.44590	-0.9318	10	0.66056	D	0.02	-11.6864	12.4798	0.55836	0.0:1.0:0.0:0.0	.	41;41;41	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	H	41	ENSP00000354574:D41H;ENSP00000345241:D41H;ENSP00000378265:D41H;ENSP00000425385:D41H;ENSP00000422477:D41H	ENSP00000345241:D41H	D	-	1	0	SLC9B2	104207083	0.996000	0.38824	0.248000	0.24265	0.666000	0.39218	2.581000	0.46077	1.880000	0.54463	0.573000	0.79308	GAT	SLC9B2	-	NULL		0.323	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B2	HGNC	protein_coding	OTTHUMT00000253805.1	C	NM_178833		103987634	-1	no_errors	ENST00000362026	ensembl	human	known	70_37	missense	SNP	0.448	G	G	103987634	C	G	103987634	3	3	147	1	0	0	0	0	1	0	0	0	10425	913	32	1	1532	1	NHEDC2	4	103987634	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3471604	103987634	87166642	317	23571										
ENPEP	2028	genome.wustl.edu	37	chr4	111397773	111397773	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcttccacggccagcccctCaggtcctcctgcccaggacc	8	20	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:111397773C>G	ENST00000265162.5	+	1	545	c.203C>G	c.(202-204)tCa>tGa	p.S68*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	68					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCCAGCCCCTCAGGTCCTCCT	0.652																																																	0													64	67	66					4																	111397773		2203	4300	6503	SO:0001587	stop_gained	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.203C>G	4.37:g.111397773C>G	ENSP00000265162:p.Ser68*		Q504U2	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S68*	ENST00000265162.5	37	c.203	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.310549	0.97462	.	.	ENSG00000138792	ENST00000265162	.	.	.	2.7	2.7	0.31948	.	1.344850	0.05230	N	0.510183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	13.4328	0.61066	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000265162:S68X	S	+	2	0	ENPEP	111617222	0.003000	0.15002	0.029000	0.17559	0.115000	0.19883	2.103000	0.41806	1.324000	0.45282	0.491000	0.48974	TCA	ENPEP	-	NULL		0.652	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	C			111397773	1	no_errors	ENST00000265162	ensembl	human	known	70_37	nonsense	SNP	0.193	G	G	111397773	C	G	111397773	4	3	147	1	0	0	0	0	0	1	0	0	5140	838	29	1	205	1	ENPEP	4	111397773	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7410139	111397773	79756503	318	23572										
C4orf21	55345	genome.wustl.edu	37	chr4	113474997	113474997	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctactacttcttacctgcttCagcagggttctattggtccc	7	13	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:113474997C>T	ENST00000505019.1	-	22	5465	c.5340G>A	c.(5338-5340)ctG>ctA	p.L1780L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1780						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		TTACCTGCTTCAGCAGGGTTC	0.343																																																	0													113	111	112					4																	113474997		2203	4299	6502	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.5340G>A	4.37:g.113474997C>T			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L1780	ENST00000505019.1	37	c.5340		4																																																																																			C4orf21	-	NULL		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113474997	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.202	T	T	113474997	C	T	113474997	2	4	147	1	0	0	0	0	0	0	0	1	2259	813	29	1		1	C4orf21	4	113474997	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2077224	113474997	77679279	319	23573										
ANK2	287	genome.wustl.edu	37	chr4	114170951	114170951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accacttcactgtgctgcacGaagtgggcatgaccaagtgg	12	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:114170951G>A	ENST00000357077.4	+	10	976	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R287Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R308Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R308Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	308					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGCTGCACGAAGTGGGCAT	0.458																																																	0													99	93	95					4																	114170951		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.923G>A	4.37:g.114170951G>A	ENSP00000349588:p.Arg308Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R308Q	ENST00000357077.4	37	c.923	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949275	0.92660	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65549	-0.16;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000125	T	0.69717	0.3142	N	0.17631	0.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.998;0.979	T	0.71672	-0.4522	10	0.52906	T	0.07	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	308;308;308;287;287	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	287;287;287;323;308;308;308;287	ENSP00000423799:R287Q;ENSP00000421011:R287Q;ENSP00000421067:R287Q;ENSP00000424722:R323Q;ENSP00000378044:R308Q;ENSP00000349588:R308Q;ENSP00000264366:R308Q	ENSP00000264366:R308Q	R	+	2	0	ANK2	114390400	1.000000	0.71417	0.066000	0.19879	0.619000	0.37552	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	CGA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114170951	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.695	A	A	114170951	G	A	114170951	3	1	147	1	0	0	0	0	1	0	0	0	621	1058	37	1	986	1	ANK2	4	114170951	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	695954	114170951	76983325	320	23574										
NDST4	64579	genome.wustl.edu	37	chr4	115891599	115891599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctcaccagtgcaaattccTtgttgagaatcatctgctct	7	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:115891599T>C	ENST00000264363.2	-	4	1886	c.1208A>G	c.(1207-1209)aAg>aGg	p.K403R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	403	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCAAATTCCTTGTTGAGAAT	0.413																																																	0													115	104	108					4																	115891599		2203	4300	6503	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1208A>G	4.37:g.115891599T>C	ENSP00000264363:p.Lys403Arg		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.K403R	ENST00000264363.2	37	c.1208	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732389	0.30684	.	.	ENSG00000138653	ENST00000264363	T	0.38401	1.14	5.49	4.27	0.50696	.	0.091594	0.64402	D	0.000001	T	0.26738	0.0654	N	0.26042	0.785	0.41835	D	0.990092	B	0.17038	0.02	B	0.25405	0.06	T	0.04737	-1.0930	10	0.29301	T	0.29	.	11.7503	0.51845	0.0:0.0701:0.0:0.9298	.	403	Q9H3R1	NDST4_HUMAN	R	403	ENSP00000264363:K403R	ENSP00000264363:K403R	K	-	2	0	NDST4	116111048	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.654000	0.37334	0.981000	0.38548	0.482000	0.46254	AAG	NDST4	-	pfam_Heparan_SO4_deacetylase		0.413	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	T	NM_022569		115891599	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115891599	T	C	115891599	3	2	147	1	0	0	0	0	1	0	0	0	10282	1609	56	5	1454	5	NDST4	4	115891599	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	1720648	115891599	75262677	321	23575										
PRSS12	8492	genome.wustl.edu	37	chr4	119204248	119204248	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaaccctaacagcatagctCctagtgctgttgccatacct	6	15	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:119204248C>T	ENST00000296498.3	-	12	2340	c.2058G>A	c.(2056-2058)agG>agA	p.R686R	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	686	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCATAGCTCCTAGTGCTGT	0.413																																																	0													123	127	126					4																	119204248		2203	4300	6503	SO:0001819	synonymous_variant	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2058G>A	4.37:g.119204248C>T			Q9UP16	Silent	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.R686	ENST00000296498.3	37	c.2058	CCDS3709.1	4																																																																																			PRSS12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.413	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	C			119204248	-1	no_errors	ENST00000296498	ensembl	human	known	70_37	silent	SNP	0.989	T	T	119204248	C	T	119204248	2	4	147	1	0	0	0	0	0	0	0	1	12642	854	30	1		1	PRSS12	4	119204248	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3312649	119204248	71950028	322	23576										
CCRN4L	25819	genome.wustl.edu	37	chr4	139966404	139966404	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgagtgctgatgggcagtcaGaacccccatacactacctgg	11	12	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:139966404G>A	ENST00000280614.2	+	3	1265	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	358					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TGGGCAGTCAGAACCCCCATA	0.512																																					Ovarian(144;566 1842 19130 21379 22209)												0													91	85	87					4																	139966404		2203	4300	6503	SO:0001583	missense	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1072G>A	4.37:g.139966404G>A	ENSP00000280614:p.Glu358Lys		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.E358K	ENST00000280614.2	37	c.1072	CCDS3743.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.610818	0.96637	.	.	ENSG00000151014	ENST00000280614	T	0.31247	1.5	5.48	5.48	0.80851	Endonuclease/exonuclease/phosphatase (2);	0.050155	0.85682	D	0.000000	T	0.63414	0.2509	M	0.89353	3.025	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	T	0.69007	-0.5259	9	.	.	.	-21.2233	19.3328	0.94299	0.0:0.0:1.0:0.0	.	358	Q9UK39	NOCT_HUMAN	K	358	ENSP00000280614:E358K	.	E	+	1	0	CCRN4L	140185854	1.000000	0.71417	0.810000	0.32431	0.990000	0.78478	9.778000	0.99011	2.589000	0.87451	0.484000	0.47621	GAA	CCRN4L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.512	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	G	NM_012118		139966404	1	no_errors	ENST00000280614	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139966404	G	A	139966404	3	1	147	1	0	0	0	0	1	0	0	0	2956	943	33	1	1082	1	CCRN4L	4	139966404	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	20762156	139966404	51187872	323	23577										
NAA15	80155	genome.wustl.edu	37	chr4	140270728	140270728	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaggcttggaaaaagcactCaagccaggtagtattgttta	10	6	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:140270728C>G	ENST00000296543.5	+	7	1127	c.804C>G	c.(802-804)ctC>ctG	p.L268L	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.L268L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	268					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGCACTCAAGCCAGGTA	0.328																																																	0													48	45	46					4																	140270728		1795	4071	5866	SO:0001819	synonymous_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.804C>G	4.37:g.140270728C>G			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L268	ENST00000296543.5	37	c.804	CCDS43270.1	4																																																																																			NAA15	-	pirsf_NatA_aux_su		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	C	NM_057175		140270728	1	no_errors	ENST00000296543	ensembl	human	known	70_37	silent	SNP	0.059	G	G	140270728	C	G	140270728	2	3	147	1	0	0	0	0	0	0	0	1	10141	813	29	1		1	NAA15	4	140270728	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	304324	140270728	50883548	324	23578										
UCP1	7350	genome.wustl.edu	37	chr4	141484349	141484349	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgatgatgacacttctcatCagattgggagtagtccctgg	11	8	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:141484349C>G	ENST00000262999.3	-	4	618	c.543G>C	c.(541-543)ctG>ctC	p.L181L		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	181					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CACTTCTCATCAGATTGGGAG	0.343																																																	0													109	108	108					4																	141484349		2203	4300	6503	SO:0001819	synonymous_variant	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.543G>C	4.37:g.141484349C>G			Q13218|Q4KMZ3|Q68G66	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.L181	ENST00000262999.3	37	c.543	CCDS3753.1	4																																																																																			UCP1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.343	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	HGNC	protein_coding	OTTHUMT00000257273.1	C			141484349	-1	no_errors	ENST00000262999	ensembl	human	known	70_37	silent	SNP	0.961	G	G	141484349	C	G	141484349	2	3	147	1	0	0	0	0	0	0	0	1	16961	813	29	1		1	UCP1	4	141484349	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1213621	141484349	49669927	325	23579										
INPP4B	8821	genome.wustl.edu	37	chr4	143003324	143003324	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggtgaaacgaataccattCagtttgcggcaaatctgtaa	9	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:143003324C>T	ENST00000513000.1	-	26	2935	c.2502G>A	c.(2500-2502)ctG>ctA	p.L834L	INPP4B_ENST00000508116.1_Silent_p.L834L|INPP4B_ENST00000262992.4_Silent_p.L834L|INPP4B_ENST00000509777.1_Silent_p.L834L|INPP4B_ENST00000308502.4_Silent_p.L834L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	834					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAATACCATTCAGTTTGCGGC	0.408																																																	0													146	129	135					4																	143003324		2203	4300	6503	SO:0001819	synonymous_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2502G>A	4.37:g.143003324C>T			Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L834	ENST00000513000.1	37	c.2502	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	c	9.386	1.074149	0.20227	.	.	ENSG00000109452	ENST00000542702	.	.	.	5.7	-3.71	0.04424	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59627	-0.7419	5	0.87932	D	0	.	3.7022	0.08387	0.0949:0.3269:0.3553:0.2229	.	.	.	.	K	649	.	ENSP00000446046:E649K	E	-	1	0	INPP4B	143222774	0.065000	0.20965	0.995000	0.50966	0.989000	0.77384	-0.747000	0.04823	-0.281000	0.09141	-0.381000	0.06696	GAA	INPP4B	-	NULL		0.408	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	C	NM_003866		143003324	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	silent	SNP	0.962	T	T	143003324	C	T	143003324	2	4	147	1	0	0	0	0	0	0	0	1	7773	813	29	1		1	INPP4B	4	143003324	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1518975	143003324	48150952	326	23580										
MMAA	166785	genome.wustl.edu	37	chr4	146567305	146567305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acataattcttattgaaaccGttggtgagtgtgatattcta	8	5	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:146567305G>A	ENST00000281317.5	+	4	1940	c.730G>A	c.(730-732)Gtt>Att	p.V244I	MMAA_ENST00000541599.1_De_novo_Start_InFrame|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	244					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGAAACCGTTGGTGAGTG	0.353																																																	0													157	147	150					4																	146567305		2203	4300	6503	SO:0001583	missense	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.730G>A	4.37:g.146567305G>A	ENSP00000281317:p.Val244Ile		B3KX40|Q495G7	Missense_Mutation	SNP	pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK	p.V244I	ENST00000281317.5	37	c.730	CCDS3766.1	4	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483520	0.84854	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.92595	-3.07	5.42	4.54	0.55810	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.95816	3.725	0.80722	D	1	D;P	0.89917	1.0;0.889	D;B	0.71656	0.974;0.22	D	0.97875	1.0288	10	0.66056	D	0.02	-21.1711	15.5666	0.76298	0.0:0.0:0.8618:0.1382	.	244;244	Q8IVH4;D6RIS5	MMAA_HUMAN;.	I	244	ENSP00000281317:V244I	ENSP00000281317:V244I	V	+	1	0	MMAA	146786755	1.000000	0.71417	0.761000	0.31378	0.706000	0.40770	7.315000	0.78998	2.529000	0.85273	0.650000	0.86243	GTT	MMAA	-	pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK		0.353	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	HGNC	protein_coding	OTTHUMT00000364668.2	G			146567305	1	no_errors	ENST00000281317	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146567305	G	A	146567305	3	1	147	1	0	0	0	0	1	0	0	0	9662	1145	40	2	740	2	MMAA	4	146567305	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3563981	146567305	44586971	327	23581										
FSTL5	56884	genome.wustl.edu	37	chr4	162508625	162508625	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accattcacttggaagatgtGagtctgatagacttgttcat	9	7	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:162508625G>C	ENST00000306100.5	-	8	1433	c.997C>G	c.(997-999)Cac>Gac	p.H333D	FSTL5_ENST00000536695.1_Missense_Mutation_p.H332D|FSTL5_ENST00000427802.2_Missense_Mutation_p.H332D|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.H332D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	333	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGAAGATGTGAGTCTGATAG	0.378																																																	0													118	109	112					4																	162508625		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.997C>G	4.37:g.162508625G>C	ENSP00000305334:p.His333Asp		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.H333D	ENST00000306100.5	37	c.997	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035039	0.75617	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.38	5.38	0.77491	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.998;0.995;0.984	T	0.44143	-0.9347	10	0.72032	D	0.01	.	18.1137	0.89543	0.0:0.0:1.0:0.0	.	332;332;333	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	D	333;332;332;332	ENSP00000305334:H333D;ENSP00000368462:H332D;ENSP00000389270:H332D;ENSP00000440409:H332D	ENSP00000305334:H333D	H	-	1	0	FSTL5	162728075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.502000	0.84385	0.655000	0.94253	CAC	FSTL5	-	smart_Ig_sub		0.378	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	G	NM_020116		162508625	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	C	C	162508625	G	C	162508625	3	2	147	1	0	0	0	0	1	0	0	0	6098	1290	45	1	1582	1	FSTL5	4	162508625	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	15941320	162508625	28645651	328	23582										
NAF1	92345	genome.wustl.edu	37	chr4	164069547	164069547	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggctttaactcaatatcttCaggcagaataatagtgagtt	8	6	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:164069547C>T	ENST00000274054.2	-	3	773	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	NAF1_ENST00000422287.2_Missense_Mutation_p.E194K	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	194					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAATATCTTCAGGCAGAATA	0.299																																																	0													92	107	102					4																	164069547		2203	4291	6494	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.580G>A	4.37:g.164069547C>T	ENSP00000274054:p.Glu194Lys		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.E194K	ENST00000274054.2	37	c.580	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338768	0.81911	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.38240	1.22;1.15	5.1	4.25	0.50352	.	0.064485	0.64402	D	0.000013	T	0.55449	0.1921	M	0.72894	2.215	0.44142	D	0.996937	D;D	0.64830	0.994;0.994	D;D	0.66716	0.926;0.946	T	0.54873	-0.8228	10	0.38643	T	0.18	-14.867	12.7254	0.57168	0.0:0.9201:0.0:0.0799	.	194;194	E9PAZ2;Q96HR8	.;NAF1_HUMAN	K	194	ENSP00000408963:E194K;ENSP00000274054:E194K	ENSP00000274054:E194K	E	-	1	0	NAF1	164288997	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.562000	0.60816	1.146000	0.42352	0.467000	0.42956	GAA	NAF1	-	pfam_H/ACA_rnp_Gar1/Naf1		0.299	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	C	NM_138386		164069547	-1	no_errors	ENST00000274054	ensembl	human	known	70_37	missense	SNP	1.000	T	T	164069547	C	T	164069547	3	4	147	1	0	0	0	0	1	0	0	0	10163	835	29	1	1069	1	NAF1	4	164069547	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1560922	164069547	27084729	329	23583										
NPY1R	4886	genome.wustl.edu	37	chr4	164246841	164246841	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatattgattcttttggtttCactggacctgtacttattgt	8	6	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:164246841C>T	ENST00000296533.2	-	3	1300	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	NPY1R_ENST00000509586.1_Missense_Mutation_p.E14K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	257					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTTTGGTTTCACTGGACCTG	0.373																																																	0													82	78	80					4																	164246841		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.769G>A	4.37:g.164246841C>T	ENSP00000354652:p.Glu257Lys		B2R6H5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E257K	ENST00000296533.2	37	c.769	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002064	0.74932	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391;ENST00000512819	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	1.866750	0.03428	N	0.207348	T	0.79149	0.4397	L	0.35487	1.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.65755	-0.6091	10	0.18710	T	0.47	.	20.1512	0.98086	0.0:1.0:0.0:0.0	.	257	P25929	NPY1R_HUMAN	K	257;14;14;79	ENSP00000354652:E257K;ENSP00000427284:E14K;ENSP00000422963:E14K;ENSP00000421618:E79K	ENSP00000354652:E257K	E	-	1	0	NPY1R	164466291	0.994000	0.37717	1.000000	0.80357	0.979000	0.70002	3.102000	0.50291	2.771000	0.95319	0.655000	0.94253	GAA	NPY1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt		0.373	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	C			164246841	-1	no_errors	ENST00000296533	ensembl	human	known	70_37	missense	SNP	0.998	T	T	164246841	C	T	164246841	3	4	147	1	0	0	0	0	1	0	0	0	10632	835	29	1	389	1	NPY1R	4	164246841	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	177294	164246841	26907435	330	23584										
NEK1	4750	genome.wustl.edu	37	chr4	170398404	170398404	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgctctttggcatcttcatGaacatttatctcaaaagtat	5	8	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:170398404G>C	ENST00000439128.2	-	24	2861	c.2221C>G	c.(2221-2223)Cat>Gat	p.H741D	NEK1_ENST00000507142.1_Missense_Mutation_p.H769D|NEK1_ENST00000510533.1_Missense_Mutation_p.H697D|NEK1_ENST00000512193.1_Missense_Mutation_p.H672D|NEK1_ENST00000511633.1_Missense_Mutation_p.H725D	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	741					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GCATCTTCATGAACATTTATC	0.368																																																	0													79	69	72					4																	170398404		1857	4093	5950	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2221C>G	4.37:g.170398404G>C	ENSP00000408020:p.His741Asp		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H769D	ENST00000439128.2	37	c.2305	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.282806	0.00251	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.67523	-0.26;-0.25;-0.26;-0.27;-0.25	5.3	-1.3	0.09259	.	0.875750	0.10167	N	0.707639	T	0.41050	0.1142	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.0	T	0.22452	-1.0216	10	0.40728	T	0.16	.	0.2355	0.00185	0.2416:0.193:0.2097:0.3557	.	672;725;769;697;741	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	D	741;725;697;769;672	ENSP00000408020:H741D;ENSP00000423332:H725D;ENSP00000427653:H697D;ENSP00000424757:H769D;ENSP00000424938:H672D	ENSP00000408020:H741D	H	-	1	0	NEK1	170634979	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	0.019000	0.15079	-0.136000	0.14681	CAT	NEK1	-	NULL		0.368	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	G			170398404	-1	no_errors	ENST00000507142	ensembl	human	known	70_37	missense	SNP	0.000	C	C	170398404	G	C	170398404	3	2	147	1	0	0	0	0	1	0	0	0	10345	1290	45	1	1599	1	NEK1	4	170398404	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6151563	170398404	20755872	331	23585										
WDR17	116966	genome.wustl.edu	37	chr4	177082071	177082071	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttaaattctaggctgcttgtGaaggaaatatgcagccctta	9	7	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:177082071G>A	ENST00000280190.4	+	21	2896	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	WDR17_ENST00000393643.2_Missense_Mutation_p.E890K|WDR17_ENST00000508596.1_Missense_Mutation_p.E890K|WDR17_ENST00000507824.2_Missense_Mutation_p.E897K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	914										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCTGCTTGTGAAGGAAATAT	0.313																																																	0													102	99	100					4																	177082071		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2740G>A	4.37:g.177082071G>A	ENSP00000280190:p.Glu914Lys		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E914K	ENST00000280190.4	37	c.2740	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732878	0.89482	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60040	0.24;0.28;0.22	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.76002	2.32	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.991;0.991	T	0.79550	-0.1757	10	0.72032	D	0.01	-20.3879	17.8943	0.88881	0.0:0.0:1.0:0.0	.	890;890;914	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	K	890;890;914;897	ENSP00000422763:E890K;ENSP00000377258:E890K;ENSP00000280190:E914K	ENSP00000280190:E914K	E	+	1	0	WDR17	177319065	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.929000	0.75852	2.530000	0.85305	0.650000	0.86243	GAA	WDR17	-	NULL		0.313	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	G			177082071	1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	A	A	177082071	G	A	177082071	3	1	147	1	0	0	0	0	1	0	0	0	17308	1291	45	1	2818	1	WDR17	4	177082071	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6683667	177082071	14072205	332	23586										
CDH18	1016	genome.wustl.edu	37	chr5	19473351	19473351	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccctaagttgttctttcaGattctatttctccatagagt	5	11	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:19473351G>A	ENST00000507958.1	-	15	3347	c.2357C>T	c.(2356-2358)tCt>tTt	p.S786F	CDH18_ENST00000274170.4_Missense_Mutation_p.S786F|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.S786F			Q13634	CAD18_HUMAN	cadherin 18, type 2	786					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTTCTTTCAGATTCTATTTC	0.433																																																	0													82	86	85					5																	19473351		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2357C>T	5.37:g.19473351G>A	ENSP00000425093:p.Ser786Phe		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S786F	ENST00000507958.1	37	c.2357	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835651	0.71373	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.59638	0.25;0.25;0.25	5.21	5.21	0.72293	.	0.280944	0.35805	N	0.002980	T	0.61299	0.2336	M	0.76938	2.355	0.43133	D	0.994872	B	0.29805	0.257	B	0.30401	0.115	T	0.61093	-0.7132	9	.	.	.	.	17.6979	0.88286	0.0:0.0:1.0:0.0	.	786	Q13634	CAD18_HUMAN	F	786	ENSP00000371710:S786F;ENSP00000425093:S786F;ENSP00000274170:S786F	.	S	-	2	0	CDH18	19509108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.705000	0.68355	2.600000	0.87896	0.655000	0.94253	TCT	CDH18	-	NULL		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	G	NM_004934		19473351	-1	no_errors	ENST00000274170	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19473351	G	A	19473351	3	1	147	1	0	0	0	0	1	0	0	0	3108	942	33	1	19	1	CDH18	5	19473351	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		19473351	161441909	333	23587										
PDZD2	23037	genome.wustl.edu	37	chr5	32088709	32088709	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctaaagtagccaggcattttCacagtccgcccatcattctc	6	14	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:32088709C>A	ENST00000438447.1	+	20	5543	c.5155C>A	c.(5155-5157)Cac>Aac	p.H1719N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H1719N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1719					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGGCATTTTCACAGTCCGCC	0.493																																																	0													116	96	103					5																	32088709		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5155C>A	5.37:g.32088709C>A	ENSP00000402033:p.His1719Asn		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H1719N	ENST00000438447.1	37	c.5155	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562955	0.27915	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06528	3.29;3.29	5.22	3.43	0.39272	.	1.037060	0.07595	N	0.922759	T	0.05823	0.0152	L	0.43152	1.355	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.41716	-0.9493	10	0.22109	T	0.4	.	7.6194	0.28177	0.0:0.7456:0.1641:0.0903	.	1719	O15018	PDZD2_HUMAN	N	1719;1520;1719	ENSP00000402033:H1719N;ENSP00000282493:H1719N	ENSP00000282493:H1719N	H	+	1	0	PDZD2	32124466	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.180000	0.32005	0.570000	0.29347	-0.291000	0.09656	CAC	PDZD2	-	NULL		0.493	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			32088709	1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.001	A	A	32088709	C	A	32088709	3	1	147	1	0	0	0	0	1	0	0	0	11725	826	29	3	5229	3	PDZD2	5	32088709	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	12615358	32088709	148826551	334	23588										
SPEF2	79925	genome.wustl.edu	37	chr5	35641588	35641588	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggagccaacacttaaccttCtgggtgtgcagtttgatcag	11	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:35641588C>G	ENST00000356031.3	+	3	371	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	SPEF2_ENST00000282469.6_Missense_Mutation_p.L73V|SPEF2_ENST00000509059.1_Missense_Mutation_p.L73V|SPEF2_ENST00000440995.2_Missense_Mutation_p.L73V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	73	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTAACCTTCTGGGTGTGCA	0.383																																																	0													88	89	89					5																	35641588		2203	4300	6503	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.217C>G	5.37:g.35641588C>G	ENSP00000348314:p.Leu73Val		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.L73V	ENST00000356031.3	37	c.217	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557897	0.65425	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.93	-0.00751	0.14008	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.56992	0.2023	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.60535	-0.7244	10	0.87932	D	0	.	11.0378	0.47811	0.0:0.4993:0.0:0.5007	.	73;73;73	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	V	73	ENSP00000282469:L73V;ENSP00000348314:L73V;ENSP00000421593:L73V;ENSP00000426259:L73V;ENSP00000412125:L73V	ENSP00000282469:L73V	L	+	1	2	SPEF2	35677345	0.040000	0.19996	0.986000	0.45419	0.996000	0.88848	0.351000	0.20096	0.125000	0.18397	0.655000	0.94253	CTG	SPEF2	-	pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	C	NM_144722		35641588	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.294	G	G	35641588	C	G	35641588	3	3	147	1	0	0	0	0	1	0	0	0	15065	912	32	1	227	1	SPEF2	5	35641588	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3552879	35641588	145273672	335	23589										
SLC1A3	6507	genome.wustl.edu	37	chr5	36677065	36677065	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaacgcttgtgggtgctgtGataaacaatgtgtctgaggc	14	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:36677065G>C	ENST00000265113.4	+	6	1115	c.639G>C	c.(637-639)gtG>gtC	p.V213V	SLC1A3_ENST00000381918.3_Silent_p.V213V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	213					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGCTGTGATAAACAATG	0.458																																																	0													105	95	98					5																	36677065		2203	4300	6503	SO:0001819	synonymous_variant	6507				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.639G>C	5.37:g.36677065G>C			B2R5T3|Q4JCQ8	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V213	ENST00000265113.4	37	c.639	CCDS3919.1	5																																																																																			SLC1A3	-	pfam_Na-dicarboxylate_symporter		0.458	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	G	NM_004172		36677065	1	no_errors	ENST00000265113	ensembl	human	known	70_37	silent	SNP	1.000	C	C	36677065	G	C	36677065	2	2	147	1	0	0	0	0	0	0	0	1	14463	1277	45	1		1	SLC1A3	5	36677065	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1035477	36677065	144238195	336	23590										
RICTOR	253260	genome.wustl.edu	37	chr5	38963098	38963098	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcttaggtcctcgtttcttCatttcatggaagcgttttaa	9	8	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:38963098C>T	ENST00000357387.3	-	17	1476	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M482I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTCGTTTCTTCATTTCATGGA	0.388																																																	0													137	123	128					5																	38963098		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1446G>A	5.37:g.38963098C>T	ENSP00000349959:p.Met482Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M482I	ENST00000357387.3	37	c.1446	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209781	0.79240	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	Armadillo-type fold (1);	0.112791	0.85682	D	0.000000	T	0.38878	0.1057	L	0.38838	1.175	0.58432	D	0.999999	B;B	0.31290	0.237;0.318	B;B	0.28638	0.054;0.092	T	0.27297	-1.0078	10	0.87932	D	0	-19.983	20.3431	0.98773	0.0:1.0:0.0:0.0	.	482;482	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	482	ENSP00000349959:M482I;ENSP00000296782:M482I	ENSP00000296782:M482I	M	-	3	0	RICTOR	38998855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.414000	0.80117	2.880000	0.98712	0.650000	0.86243	ATG	RICTOR	-	superfamily_ARM-type_fold		0.388	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	C	NM_152756		38963098	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38963098	C	T	38963098	3	4	147	1	0	0	0	0	1	0	0	0	13388	826	29	1	3768	1	RICTOR	5	38963098	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2286033	38963098	141952162	337	23591										
PLCXD3	345557	genome.wustl.edu	37	chr5	41510616	41510616	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttcagctcgtttttcccctGagacgaggccatcgtgccag	10	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:41510616G>A	ENST00000377801.3	-	1	87	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.Q5*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	5					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTTTTCCCCTGAGACGAGGCC	0.612																																																	0													45	38	41					5																	41510616		2203	4300	6503	SO:0001587	stop_gained	345557				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.13C>T	5.37:g.41510616G>A	ENSP00000367032:p.Gln5*		A6NL04	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.Q5*	ENST00000377801.3	37	c.13	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.497608	0.98322	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	4.57	4.57	0.56435	.	0.238597	0.38897	N	0.001528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-8.2289	16.2935	0.82761	0.0:0.0:1.0:0.0	.	.	.	.	X	5	.	ENSP00000333751:Q5X	Q	-	1	0	PLCXD3	41546373	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.346000	0.90060	2.387000	0.81309	0.555000	0.69702	CAG	PLCXD3	-	NULL		0.612	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	G	XM_293875		41510616	-1	no_errors	ENST00000328457	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	41510616	G	A	41510616	4	1	147	1	0	0	0	0	0	1	0	0	12067	1299	45	1	964	1	PLCXD3	5	41510616	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2547518	41510616	139404644	338	23592										
HCN1	348980	genome.wustl.edu	37	chr5	45303719	45303719	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acctccaaagtaagagccatCtgtcagcttcatttctttac	5	12	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:45303719C>T	ENST00000303230.4	-	6	1657	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	534					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAAGAGCCATCTGTCAGCTTC	0.353																																																	0													81	78	79					5																	45303719		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1600G>A	5.37:g.45303719C>T	ENSP00000307342:p.Asp534Asn			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.D534N	ENST00000303230.4	37	c.1600	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.416936	0.96092	.	.	ENSG00000164588	ENST00000303230	D	0.92595	-3.07	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.95401	0.8507	M	0.70842	2.15	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	D	0.95339	0.8436	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	534	O60741	HCN1_HUMAN	N	534	ENSP00000307342:D534N	ENSP00000307342:D534N	D	-	1	0	HCN1	45339476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	GAT	HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.353	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45303719	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45303719	C	T	45303719	3	4	147	1	0	0	0	0	1	0	0	0	7016	913	32	1	1084	1	HCN1	5	45303719	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3793103	45303719	135611541	339	23593										
ITGA2	3673	genome.wustl.edu	37	chr5	52386428	52386428	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaccacagagctcagtagctGaaccagcagacctacctgca	9	14	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:52386428G>A	ENST00000296585.5	+	30	3688	c.3545G>A	c.(3544-3546)tGa>tAa	p.*1182*	CTD-2366F13.2_ENST00000606157.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	0					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTCAGTAGCTGAACCAGCAGA	0.418																																																	0													54	56	55					5																	52386428		2203	4300	6503	SO:0001819	synonymous_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3545G>A	5.37:g.52386428G>A			Q14595	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.*1182	ENST00000296585.5	37	c.3545	CCDS3957.1	5																																																																																			ITGA2	-	NULL		0.418	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	G	NM_002203		52386428	1	no_errors	ENST00000296585	ensembl	human	known	70_37	silent	SNP	0.999	A	A	52386428	G	A	52386428	2	1	147	1	0	0	0	0	0	0	0	1	7895	1285	45	1		1	ITGA2	5	52386428	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7082709	52386428	128528832	340	23594										
GZMK	3003	genome.wustl.edu	37	chr5	54329656	54329656	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctatagtctctggaggtcatGaatgtggtgttgccacaaag	12	7	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:54329656G>C	ENST00000231009.2	+	5	767	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGGAGGTCATGAATGTGGTGT	0.468																																																	0													113	103	106					5																	54329656		2203	4300	6503	SO:0001583	missense	3003			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.697G>C	5.37:g.54329656G>C	ENSP00000231009:p.Glu233Gln		B2R563	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E233Q	ENST00000231009.2	37	c.697	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702939	0.30232	.	.	ENSG00000113088	ENST00000231009	D	0.88586	-2.4	5.28	-3.86	0.04230	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.635725	0.15408	N	0.263953	T	0.72732	0.3497	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.57665	-0.7772	10	0.25106	T	0.35	.	1.4701	0.02414	0.385:0.2409:0.257:0.1171	.	233	P49863	GRAK_HUMAN	Q	233	ENSP00000231009:E233Q	ENSP00000231009:E233Q	E	+	1	0	GZMK	54365413	0.000000	0.05858	0.012000	0.15200	0.088000	0.18126	-0.162000	0.10012	-0.547000	0.06207	-1.242000	0.01536	GAA	GZMK	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.468	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1	G	NM_002104		54329656	1	no_errors	ENST00000231009	ensembl	human	known	70_37	missense	SNP	0.000	C	C	54329656	G	C	54329656	3	2	147	1	0	0	0	0	1	0	0	0	6938	1291	45	1	715	1	GZMK	5	54329656	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1943228	54329656	126585604	341	23595										
DHX29	54505	genome.wustl.edu	37	chr5	54591326	54591326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggttgctgctcttcaaattCctgactgaatccttcaggaa	8	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:54591326C>T	ENST00000251636.5	-	5	680	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	178						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTTCAAATTCCTGACTGAAT	0.333																																																	0													112	111	111					5																	54591326		2203	4300	6503	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.532G>A	5.37:g.54591326C>T	ENSP00000251636:p.Glu178Lys		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E178K	ENST00000251636.5	37	c.532	CCDS34158.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.232609|3.232609	0.58777|0.58777	.|.	.|.	ENSG00000067248|ENSG00000067248	ENST00000251636|ENST00000508346	T|.	0.43294|.	0.95|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.140216|.	0.64402|.	D|.	0.000004|.	T|T	0.44644|0.44644	0.1303|0.1303	N|N	0.16478|0.16478	0.41|0.41	0.37591|0.37591	D|D	0.920179|0.920179	B|.	0.14438|.	0.01|.	B|.	0.06405|.	0.002|.	T|T	0.43925|0.43925	-0.9361|-0.9361	10|5	0.20519|.	T|.	0.43|.	.|.	14.5428|14.5428	0.68008|0.68008	0.0:0.7465:0.2535:0.0|0.0:0.7465:0.2535:0.0	.|.	178|.	Q7Z478|.	DHX29_HUMAN|.	K|E	178|142	ENSP00000251636:E178K|.	ENSP00000251636:E178K|.	E|G	-|-	1|2	0|0	DHX29|DHX29	54627083|54627083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.537000|3.537000	0.53590|0.53590	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAA|GGA	DHX29	-	NULL		0.333	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54591326	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54591326	C	T	54591326	3	4	147	1	0	0	0	0	1	0	0	0	4513	864	30	1	3669	1	DHX29	5	54591326	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	261670	54591326	126323934	342	23596										
ANKRD55	79722	genome.wustl.edu	37	chr5	55472045	55472045	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgttaatattggctcccatCttcaacagcagcttcactgt	6	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:55472045C>G	ENST00000341048.4	-	4	397	c.246G>C	c.(244-246)aaG>aaC	p.K82N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.K82N|ANKRD55_ENST00000513241.2_Missense_Mutation_p.K53N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	82										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGGCTCCCATCTTCAACAGCA	0.507																																																	0													180	152	161					5																	55472045		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.246G>C	5.37:g.55472045C>G	ENSP00000342295:p.Lys82Asn		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K82N	ENST00000341048.4	37	c.246	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805471	0.70682	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.65178	-0.14;-0.14;-0.14	5.49	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	N	0.11818	0.18	0.45822	D	0.998694	D	0.89917	1.0	D	0.91635	0.999	T	0.50849	-0.8779	10	0.10902	T	0.67	.	9.2035	0.37275	0.0:0.7743:0.0:0.2257	.	82	B3KVT8	.	N	82;82;82;53;82	ENSP00000342295:K82N;ENSP00000424230:K82N;ENSP00000423507:K53N	ENSP00000342295:K82N	K	-	3	2	ANKRD55	55507802	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.790000	0.38734	0.674000	0.31244	-0.244000	0.11960	AAG	ANKRD55	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.507	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	C	NM_024669		55472045	-1	no_errors	ENST00000341048	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55472045	C	G	55472045	3	3	147	1	0	0	0	0	1	0	0	0	681	912	32	1	1634	1	ANKRD55	5	55472045	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	880719	55472045	125443215	343	23597										
MAP3K1	4214	genome.wustl.edu	37	chr5	56155681	56155681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctcctggcaactccccatCaggtcgcacagtgaaatcag	8	14	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:56155681C>T	ENST00000399503.3	+	3	773	c.773C>T	c.(772-774)tCa>tTa	p.S258L	AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	258					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AACTCCCCATCAGGTCGCACA	0.468																																																	0													39	40	40					5																	56155681		1912	4126	6038	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.773C>T	5.37:g.56155681C>T	ENSP00000382423:p.Ser258Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S258L	ENST00000399503.3	37	c.773	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033222	0.75504	.	.	ENSG00000095015	ENST00000399503	T	0.69926	-0.44	5.72	5.72	0.89469	.	0.319686	0.29791	N	0.011188	T	0.56645	0.1999	L	0.29908	0.895	0.58432	D	0.999996	P	0.43094	0.799	B	0.35039	0.194	T	0.63686	-0.6581	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	258	Q13233	M3K1_HUMAN	L	258	ENSP00000382423:S258L	ENSP00000382423:S258L	S	+	2	0	MAP3K1	56191438	0.999000	0.42202	0.169000	0.22859	0.964000	0.63967	6.180000	0.71981	2.865000	0.98341	0.655000	0.94253	TCA	MAP3K1	-	NULL		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	C	XM_042066		56155681	1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	0.915	T	T	56155681	C	T	56155681	3	4	147	1	0	0	0	0	1	0	0	0	9266	838	29	1	783	1	MAP3K1	5	56155681	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	683636	56155681	124759579	344	23598										
RNF180	285671	genome.wustl.edu	37	chr5	63496634	63496634	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatgcactaatgtttccgcaGatgaaaagaagcaaagaatt	8	6	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:63496634G>C	ENST00000389100.4	+	2	72		c.e2-1		RNF180_ENST00000296615.6_Splice_Site|RNF180_ENST00000381081.2_Splice_Site	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180						adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TGTTTCCGCAGATGAAAAGAA	0.338																																																	0													98	96	96					5																	63496634		2203	4300	6503	SO:0001630	splice_region_variant	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.0-1G>C	5.37:g.63496634G>C			Q0JSU3|Q495A8|Q8NBD1	Splice_Site	SNP	-	e1-1	ENST00000389100.4	37	c.1-1	CCDS47219.1	5																																																																																			RNF180	-	-		0.338	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1	G	NM_178532	Intron	63496634	1	no_errors	ENST00000389100	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	63496634	G	C	63496634	5	2	147	1	0	0	0	0	0	0	1	0	13494	956	33	1	2	1	RNF180	5	63496634	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7340953	63496634	117418626	345	23599										
CENPK	64105	genome.wustl.edu	37	chr5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtctcaaggcaattccattaCgcagcagcagctcaacataa	7	12	2	0	rs147863579		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111	109	109		743	4	1	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	CENPK	NM_022145.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	248/270	64814369	2,13004	2203	4300	6503	SO:0001583	missense	64105			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.743G>A	5.37:g.64814369C>T	ENSP00000379911:p.Arg248His		Q9H4L0	Missense_Mutation	SNP	pfam_Centromere_CenpK,superfamily_Prefoldin	p.R248H	ENST00000396679.1	37	c.743	CCDS3984.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582695	0.86748	2.27E-4	1.16E-4	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	3.98	0.46160	.	0.054076	0.64402	D	0.000001	T	0.51432	0.1674	M	0.65498	2.005	0.50171	D	0.999855	P	0.37276	0.589	B	0.30105	0.111	T	0.54636	-0.8264	9	0.72032	D	0.01	-1.8585	11.2414	0.48972	0.1276:0.8065:0.0:0.0659	.	248	Q9BS16	CENPK_HUMAN	H	248;248;248;218;185	.	ENSP00000242872:R248H	R	-	2	0	CENPK	64850125	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	6.220000	0.72237	0.773000	0.33404	0.557000	0.71058	CGT	CENPK	-	pfam_Centromere_CenpK		0.353	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	C	NM_022145		64814369	-1	no_errors	ENST00000242872	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64814369	C	T	64814369	3	4	147	1	0	0	0	0	1	0	0	0	3240	536	19	2	70	2	CENPK	5	64814369	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1317735	64814369	116100891	346	23600										
MAST4	375449	genome.wustl.edu	37	chr5	66084548	66084548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacaggcctggccggcctctGcagagacgtccaacctcgtg	13	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:66084548G>A	ENST00000403625.2	+	3	863	c.568G>A	c.(568-570)Gca>Aca	p.A190T	MAST4_ENST00000404260.3_Missense_Mutation_p.A190T|MAST4_ENST00000406039.1_Missense_Mutation_p.A190T|MAST4_ENST00000406374.1_Missense_Mutation_p.A190T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	190						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGCCTCTGCAGAGACGTC	0.652																																																	0													36	38	37					5																	66084548		1891	4111	6002	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.568G>A	5.37:g.66084548G>A	ENSP00000385727:p.Ala190Thr		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A190T	ENST00000403625.2	37	c.568	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285173	0.80803	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817	T;T;T;T;T	0.67523	-0.27;-0.26;1.26;1.25;0.8	5.67	4.73	0.59995	.	0.283398	0.27185	N	0.020535	T	0.51702	0.1690	L	0.39898	1.24	0.09310	N	1	B;B	0.33940	0.433;0.42	B;B	0.29176	0.068;0.099	T	0.37957	-0.9683	10	0.21540	T	0.41	.	9.3477	0.38118	0.1786:0.0:0.8214:0.0	.	190;190	E7EX28;O15021-4	.;.	T	190;190;190;190;62	ENSP00000385048:A190T;ENSP00000385727:A190T;ENSP00000385088:A190T;ENSP00000384547:A190T;ENSP00000413573:A62T	ENSP00000385727:A190T	A	+	1	0	MAST4	66120304	0.031000	0.19500	0.019000	0.16419	0.953000	0.61014	1.156000	0.31712	1.254000	0.44035	0.557000	0.71058	GCA	MAST4	-	NULL		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66084548	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.029	A	A	66084548	G	A	66084548	3	1	147	1	0	0	0	0	1	0	0	0	9350	1319	46	4	578	4	MAST4	5	66084548	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1270179	66084548	114830712	347	23601										
TAF9	6880	genome.wustl.edu	37	chr5	68647889	68647889	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagtagctagccttataagtCaagagttatgatctttgatc	8	6	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:68647889C>G	ENST00000380822.4	-	5	569	c.518G>C	c.(517-519)tGa>tCa	p.*173S	TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000512561.1_Nonstop_Mutation_p.*142S|TAF9_ENST00000380818.3_Nonstop_Mutation_p.*170S	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CCTTATAAGTCAAGAGTTATG	0.353																																																	0													61	56	58					5																	68647889		2203	4300	6503	SO:0001578	stop_lost	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.518G>C	5.37:g.68647889C>G			D3DWA3|Q5U0D1|Q9BTS1	Nonstop_Mutation	SNP	pfam_ATPase_AAA_core	p.*173S	ENST00000380822.4	37	c.518	CCDS4001.1	5	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474178	0.26423	.	.	ENSG00000085231	ENST00000380822;ENST00000380818;ENST00000512561	.	.	.	4.73	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6047	0.28095	0.0:0.5684:0.0:0.4316	.	.	.	.	S	173;170;142	.	.	X	-	2	2	TAF9	68683645	0.464000	0.25807	0.743000	0.31040	0.687000	0.40016	0.619000	0.24388	0.052000	0.16007	0.462000	0.41574	TGA	TAF9	-	NULL		0.353	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216793.1	C	NM_003187		68647889	-1	no_errors	ENST00000380822	ensembl	human	known	70_37	nonstop	SNP	0.987	G	G	68647889	C	G	68647889	4	3	147	1	0	0	0	0	0	0	0	0	15565	837	29	1	4	1	TAF9	5	68647889	Nonstop_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2563341	68647889	112267371	348	23602										
BDP1	55814	genome.wustl.edu	37	chr5	70808110	70808110	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgatgatgcatacacctgtaGaagaaaaaagaaattctgaa	8	6	1	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:70808110G>C	ENST00000358731.4	+	18	4365	c.4102G>C	c.(4102-4104)Gaa>Caa	p.E1368Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1368					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TACACCTGTAGAAGAAAAAAG	0.333																																																	0													86	85	85					5																	70808110		1814	4076	5890	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4102G>C	5.37:g.70808110G>C	ENSP00000351575:p.Glu1368Gln		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1368Q	ENST00000358731.4	37	c.4102	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314142	0.81358	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.13089	2.62	4.54	3.67	0.42095	.	0.459681	0.18402	N	0.142336	T	0.27559	0.0677	L	0.50333	1.59	0.48830	D	0.999719	D;D	0.71674	0.992;0.998	P;D	0.71414	0.838;0.973	T	0.01149	-1.1436	10	0.87932	D	0	.	8.6648	0.34114	0.1074:0.0:0.8926:0.0	.	1368;1368	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	Q	1368;948	ENSP00000351575:E1368Q	ENSP00000351575:E1368Q	E	+	1	0	BDP1	70843866	0.978000	0.34361	0.263000	0.24496	0.917000	0.54804	1.951000	0.40333	1.026000	0.39733	0.655000	0.94253	GAA	BDP1	-	NULL		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70808110	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.569	C	C	70808110	G	C	70808110	3	2	147	1	0	0	0	0	1	0	0	0	1396	943	33	1	4172	1	BDP1	5	70808110	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2160221	70808110	110107150	349	23603										
MAP1B	4131	genome.wustl.edu	37	chr5	71491658	71491658	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgccaaagaactcgaagctGagaggtcccttatgtcatct	9	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:71491658G>C	ENST00000296755.7	+	5	2774	c.2476G>C	c.(2476-2478)Gag>Cag	p.E826Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	826					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACTCGAAGCTGAGAGGTCCCT	0.537																																					Melanoma(17;367 822 11631 31730 47712)												0													73	74	74					5																	71491658		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2476G>C	5.37:g.71491658G>C	ENSP00000296755:p.Glu826Gln		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E826Q	ENST00000296755.7	37	c.2476	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411084	0.42817	.	.	ENSG00000131711	ENST00000296755	T	0.03181	4.02	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	T	0.12944	0.0314	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66716	0.946;0.946	T	0.00807	-1.1558	10	0.59425	D	0.04	-22.6437	19.4736	0.94973	0.0:0.0:1.0:0.0	.	700;826	A2BDK6;P46821	.;MAP1B_HUMAN	Q	826	ENSP00000296755:E826Q	ENSP00000296755:E826Q	E	+	1	0	MAP1B	71527414	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	9.407000	0.97325	2.596000	0.87737	0.591000	0.81541	GAG	MAP1B	-	NULL		0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71491658	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71491658	G	C	71491658	3	2	147	1	0	0	0	0	1	0	0	0	9251	1291	45	1	2494	1	MAP1B	5	71491658	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	683548	71491658	109423602	350	23604										
TNPO1	3842	genome.wustl.edu	37	chr5	72173148	72173148	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgaacagccaatatgcaaaGatgtactcgtaaggcatctt	8	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:72173148G>C	ENST00000337273.5	+	9	1321	c.895G>C	c.(895-897)Gat>Cat	p.D299H	TNPO1_ENST00000454282.1_Missense_Mutation_p.D249H|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000506351.2_Missense_Mutation_p.D291H|TNPO1_ENST00000523768.1_Missense_Mutation_p.D249H|MIR4804_ENST00000581683.1_RNA	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	299					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AATATGCAAAGATGTACTCGT	0.348																																																	0													116	113	114					5																	72173148		2203	4300	6503	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.895G>C	5.37:g.72173148G>C	ENSP00000336712:p.Asp299His		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D299H	ENST00000337273.5	37	c.895	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668408	0.67814	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.043790	0.85682	D	0.000000	T	0.59662	0.2210	L	0.44542	1.39	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.17979	0.02;0.004	T	0.56547	-0.7961	10	0.72032	D	0.01	-19.9544	19.7884	0.96447	0.0:0.0:1.0:0.0	.	249;299	Q92973-3;Q92973	.;TNPO1_HUMAN	H	299;249;249;291	ENSP00000336712:D299H;ENSP00000398524:D249H;ENSP00000428899:D249H;ENSP00000425118:D291H	ENSP00000336712:D299H	D	+	1	0	TNPO1	72208904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.350000	0.97070	2.758000	0.94735	0.650000	0.86243	GAT	TNPO1	-	superfamily_ARM-type_fold		0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	G	NM_002270		72173148	1	no_errors	ENST00000337273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72173148	G	C	72173148	3	2	147	1	0	0	0	0	1	0	0	0	16365	942	33	1	929	1	TNPO1	5	72173148	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	681490	72173148	108742112	351	23605										
POLK	51426	genome.wustl.edu	37	chr5	74865228	74865228	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcaataccatagtgcacattGacatggatgctttctatgca	8	9	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:74865228G>A	ENST00000241436.4	+	4	491	c.319G>A	c.(319-321)Gac>Aac	p.D107N	POLK_ENST00000504026.1_Missense_Mutation_p.D107N|POLK_ENST00000515295.1_Missense_Mutation_p.D107N|POLK_ENST00000380481.3_Missense_Mutation_p.D17N|POLK_ENST00000352007.5_Missense_Mutation_p.D107N|POLK_ENST00000508526.1_Missense_Mutation_p.D107N|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	107	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTGCACATTGACATGGATGC	0.348								DNA polymerases (catalytic subunits)																																									0													98	92	94					5																	74865228		2203	4300	6503	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.319G>A	5.37:g.74865228G>A	ENSP00000241436:p.Asp107Asn		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.D107N	ENST00000241436.4	37	c.319	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.941054	0.97128	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	6.03	6.03	0.97812	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98370	1.0553	10	0.87932	D	0	-21.6158	20.5752	0.99366	0.0:0.0:1.0:0.0	.	107;107;107;107	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	N	107;107;107;107;107;107;17	ENSP00000241436:D107N;ENSP00000342256:D107N;ENSP00000425208:D107N;ENSP00000424174:D107N;ENSP00000425075:D107N;ENSP00000426853:D107N;ENSP00000369848:D17N	ENSP00000241436:D107N	D	+	1	0	POLK	74900984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	GAC	POLK	-	pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N		0.348	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	G	NM_016218		74865228	1	no_errors	ENST00000241436	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74865228	G	A	74865228	3	1	147	1	0	0	0	0	1	0	0	0	12228	1290	45	1	329	1	POLK	5	74865228	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2692080	74865228	106050032	352	23606										
POLK	51426	genome.wustl.edu	37	chr5	74865282	74865282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggacaatccagaattgaagGataaacccattgctgtagga	11	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:74865282G>A	ENST00000241436.4	+	4	545	c.373G>A	c.(373-375)Gat>Aat	p.D125N	POLK_ENST00000504026.1_Missense_Mutation_p.D125N|POLK_ENST00000515295.1_Missense_Mutation_p.D125N|POLK_ENST00000380481.3_Missense_Mutation_p.D35N|POLK_ENST00000352007.5_Missense_Mutation_p.D125N|POLK_ENST00000508526.1_Missense_Mutation_p.D125N|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	125	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGAATTGAAGGATAAACCCAT	0.358								DNA polymerases (catalytic subunits)																																									0													105	96	99					5																	74865282		2203	4300	6503	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.373G>A	5.37:g.74865282G>A	ENSP00000241436:p.Asp125Asn		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.D125N	ENST00000241436.4	37	c.373	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685697	0.47991	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	6.03	5.14	0.70334	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.337163	0.37348	N	0.002127	T	0.69223	0.3087	L	0.33245	0.995	0.46113	D	0.99887	B;B;B;B	0.29481	0.055;0.001;0.022;0.245	B;B;B;B	0.43575	0.039;0.008;0.067;0.424	T	0.68116	-0.5494	10	0.42905	T	0.14	-11.0392	13.2626	0.60113	0.0796:0.0:0.9204:0.0	.	125;125;125;125	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	N	125;125;125;125;125;125;35	ENSP00000241436:D125N;ENSP00000342256:D125N;ENSP00000425208:D125N;ENSP00000424174:D125N;ENSP00000425075:D125N;ENSP00000426853:D125N;ENSP00000369848:D35N	ENSP00000241436:D125N	D	+	1	0	POLK	74901038	1.000000	0.71417	0.630000	0.29268	0.538000	0.34931	6.752000	0.74898	1.475000	0.48197	0.557000	0.71058	GAT	POLK	-	pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N		0.358	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	G	NM_016218		74865282	1	no_errors	ENST00000241436	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74865282	G	A	74865282	3	1	147	1	0	0	0	0	1	0	0	0	12228	1174	41	1	383	1	POLK	5	74865282	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	54	74865282	106049978	353	23607										
BHMT	635	genome.wustl.edu	37	chr5	78416249	78416249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agatgctttggtagcaggagGagtgagtcagacaccttcat	13	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:78416249G>A	ENST00000274353.5	+	4	469	c.362G>A	c.(361-363)gGa>gAa	p.G121E	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	121	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.G121E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GTAGCAGGAGGAGTGAGTCAG	0.458																																																	1	Substitution - Missense(1)	lung(1)											74	67	70					5																	78416249		2203	4300	6503	SO:0001583	missense	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.362G>A	5.37:g.78416249G>A	ENSP00000274353:p.Gly121Glu		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.G121E	ENST00000274353.5	37	c.362	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904718	0.92035	.	.	ENSG00000145692	ENST00000274353	T	0.29917	1.55	5.22	5.22	0.72569	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70714	-0.4796	10	0.62326	D	0.03	-24.3304	19.1596	0.93526	0.0:0.0:1.0:0.0	.	121	Q93088	BHMT1_HUMAN	E	121	ENSP00000274353:G121E	ENSP00000274353:G121E	G	+	2	0	BHMT	78452005	1.000000	0.71417	0.906000	0.35671	0.829000	0.46940	9.420000	0.97426	2.602000	0.87976	0.557000	0.71058	GGA	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase		0.458	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	G	NM_001713		78416249	1	no_errors	ENST00000274353	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78416249	G	A	78416249	3	1	147	1	0	0	0	0	1	0	0	0	1426	1174	41	1	376	1	BHMT	5	78416249	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3550967	78416249	102499011	354	23608										
ZFYVE16	9765	genome.wustl.edu	37	chr5	79770494	79770494	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catttcaggtgttctactttCtaaaggaccaggatttatct	7	8	4	0	rs370781380		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:79770494C>G	ENST00000338008.5	+	17	4486	c.4306C>G	c.(4306-4308)Cta>Gta	p.L1436V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1436V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1436V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1436					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GTTCTACTTTCTAAAGGACCA	0.333																																					Melanoma(150;1452 1854 16018 17851 37292)												0													76	80	79					5																	79770494		2203	4300	6503	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4306C>G	5.37:g.79770494C>G	ENSP00000337159:p.Leu1436Val		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.L1436V	ENST00000338008.5	37	c.4306	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238093	0.58886	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.39787	1.06;1.06;1.06	5.48	4.6	0.57074	Domain of unknown function DUF3480 (1);	0.305968	0.23612	N	0.046322	T	0.55529	0.1926	M	0.65975	2.015	0.46222	D	0.998937	P;D	0.56521	0.589;0.976	B;P	0.62885	0.309;0.908	T	0.57323	-0.7831	10	0.59425	D	0.04	-0.373	7.1887	0.25814	0.0:0.708:0.1463:0.1457	.	246;1436	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	V	1436	ENSP00000337159:L1436V;ENSP00000423663:L1436V;ENSP00000426848:L1436V	ENSP00000337159:L1436V	L	+	1	2	ZFYVE16	79806250	0.858000	0.29795	0.999000	0.59377	0.977000	0.68977	1.366000	0.34193	1.420000	0.47138	-0.176000	0.13171	CTA	ZFYVE16	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.333	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	C	NM_014733		79770494	1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79770494	C	G	79770494	3	3	147	1	0	0	0	0	1	0	0	0	17694	912	32	1	4368	1	ZFYVE16	5	79770494	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1354245	79770494	101144766	355	23609										
GPR98	84059	genome.wustl.edu	37	chr5	89981736	89981736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatcatgttggacccattatCaatgtgactagaacaggagg	10	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:89981736C>G	ENST00000405460.2	+	29	6510	c.6414C>G	c.(6412-6414)atC>atG	p.I2138M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2138	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCCATTATCAATGTGACTA	0.408																																																	0													91	81	84					5																	89981736		1920	4133	6053	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6414C>G	5.37:g.89981736C>G	ENSP00000384582:p.Ile2138Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I2138M	ENST00000405460.2	37	c.6414	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367865	0.61513	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30182	1.54	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.087963	0.85682	D	0.000000	T	0.50735	0.1633	M	0.72576	2.205	0.80722	D	1	P	0.50272	0.933	D	0.63793	0.918	T	0.51537	-0.8693	10	0.72032	D	0.01	.	10.1382	0.42719	0.0:0.8476:0.0:0.1524	.	2138	Q8WXG9	GPR98_HUMAN	M	2138	ENSP00000384582:I2138M	ENSP00000296619:I2138M	I	+	3	3	GPR98	90017492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.579000	0.36536	2.736000	0.93811	0.591000	0.81541	ATC	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		89981736	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89981736	C	G	89981736	3	3	147	1	0	0	0	0	1	0	0	0	6741	816	29	1	6528	1	GPR98	5	89981736	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10211242	89981736	90933524	356	23610										
MCC	4163	genome.wustl.edu	37	chr5	112363160	112363160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgctttttctttgctttctCataggcagccaccaggttgc	8	11	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:112363160C>G	ENST00000302475.4	-	17	2892	c.2329G>C	c.(2329-2331)Gag>Cag	p.E777Q	MCC_ENST00000408903.3_Missense_Mutation_p.E967Q|MCC_ENST00000515367.2_Missense_Mutation_p.E714Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	777					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTTGCTTTCTCATAGGCAGCC	0.458																																																	0													182	159	166					5																	112363160		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2329G>C	5.37:g.112363160C>G	ENSP00000305617:p.Glu777Gln		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.E777Q	ENST00000302475.4	37	c.2329	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938390	0.92526	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39056	2.27;2.27;1.1	5.83	5.83	0.93111	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	L	0.55481	1.735	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.75484	0.986;0.982	T	0.52102	-0.8620	10	0.29301	T	0.29	-26.7144	20.1374	0.98035	0.0:1.0:0.0:0.0	.	967;777	P23508-2;P23508	.;CRCM_HUMAN	Q	777;714;967	ENSP00000305617:E777Q;ENSP00000421615:E714Q;ENSP00000386227:E967Q	ENSP00000305617:E777Q	E	-	1	0	MCC	112391059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.942000	0.70203	2.763000	0.94921	0.563000	0.77884	GAG	MCC	-	pfam_USH1C-bd_PDZ_domain		0.458	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112363160	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112363160	C	G	112363160	3	3	147	1	0	0	0	0	1	0	0	0	9396	835	29	1	164	1	MCC	5	112363160	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	22381424	112363160	68552100	357	23611										
ATG12	9140	genome.wustl.edu	37	chr5	115177250	115177250	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gactgcggctcctccgccatCttgcttggagacactcgaga	11	14	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:115177250C>G	ENST00000509910.1	-	0	305				AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_Missense_Mutation_p.K47N|ATG12_ENST00000500945.2_5'UTR			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CCTCCGCCATCTTGCTTGGAG	0.607																																																	0													76	86	83					5																	115177250		2202	4300	6502	SO:0001623	5_prime_UTR_variant	9140			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-1G>C	5.37:g.115177250C>G			Q6PJV2	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like	p.K47N	ENST00000509910.1	37	c.141	CCDS4122.2	5	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508659	0.44660	.	.	ENSG00000145782	ENST00000274459	.	.	.	4.87	1.98	0.26296	.	0.962580	0.08481	N	0.939554	T	0.46833	0.1413	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19160	-1.0314	8	0.45353	T	0.12	-16.8696	8.1595	0.31190	0.1697:0.5016:0.3287:0.0	.	47	C1IDX9	.	N	47	.	ENSP00000274459:K47N	K	-	3	2	ATG12	115205149	1.000000	0.71417	0.819000	0.32651	0.257000	0.26127	0.681000	0.25320	0.090000	0.17273	-0.175000	0.13238	AAG	ATG12	-	NULL		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG12	HGNC	protein_coding	OTTHUMT00000250851.3	C	NM_004707		115177250	-1	no_errors	ENST00000274459	ensembl	human	known	70_37	missense	SNP	0.975	G	G	115177250	C	G	115177250	1	3	147	0	1	0	0	0	0	0	0	0	1091	928	32	1		1	ATG12	5	115177250	5'UTR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2814090	115177250	65738010	358	23612										
SNCAIP	9627	genome.wustl.edu	37	chr5	121759246	121759246	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcctcatggtcgaaaagttGagaagacaacaccagactgc	9	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:121759246G>A	ENST00000261368.8	+	4	1076	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SNCAIP_ENST00000379533.2_Missense_Mutation_p.E319K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E319K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E272K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.E319K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	272					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCGAAAAGTTGAGAAGACAAC	0.488																																																	0													67	71	70					5																	121759246		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.814G>A	5.37:g.121759246G>A	ENSP00000261368:p.Glu272Lys		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E319K	ENST00000261368.8	37	c.955	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258941	0.80246	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.14640	4.78;2.53;2.49;4.78;2.49;4.26	6.02	6.02	0.97574	.	0.366946	0.31290	N	0.007909	T	0.18800	0.0451	L	0.32530	0.975	0.80722	D	1	P;P;P;P	0.52061	0.748;0.95;0.787;0.7	B;P;B;B	0.48334	0.25;0.574;0.218;0.193	T	0.00383	-1.1774	9	.	.	.	-26.1939	20.5407	0.99260	0.0:0.0:1.0:0.0	.	272;319;319;272	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	K	272;272;319;272;319;319	ENSP00000422106:E272K;ENSP00000261368:E272K;ENSP00000368848:E319K;ENSP00000368851:E272K;ENSP00000261367:E319K;ENSP00000423199:E319K	.	E	+	1	0	SNCAIP	121787145	1.000000	0.71417	0.968000	0.41197	0.548000	0.35241	7.443000	0.80521	2.865000	0.98341	0.655000	0.94253	GAG	SNCAIP	-	NULL		0.488	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	G			121759246	1	no_errors	ENST00000379533	ensembl	human	known	70_37	missense	SNP	0.997	A	A	121759246	G	A	121759246	3	1	147	1	0	0	0	0	1	0	0	0	14871	1291	45	1	824	1	SNCAIP	5	121759246	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6581996	121759246	59156014	359	23613										
ZNF608	57507	genome.wustl.edu	37	chr5	123984157	123984157	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccattgctcatcagctctctCtttccctttggggtcccagg	8	15	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:123984157C>G	ENST00000306315.5	-	4	2355	c.1920G>C	c.(1918-1920)aaG>aaC	p.K640N	ZNF608_ENST00000504926.1_Missense_Mutation_p.K213N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	640							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCAGCTCTCTCTTTCCCTTTG	0.498																																																	0													69	71	70					5																	123984157		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1920G>C	5.37:g.123984157C>G	ENSP00000307746:p.Lys640Asn		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.K640N	ENST00000306315.5	37	c.1920	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161931	0.38217	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.50277	0.75;0.79	5.61	2.85	0.33270	.	0.048168	0.85682	D	0.000000	T	0.52549	0.1741	L	0.51422	1.61	0.41841	D	0.990127	D	0.67145	0.996	P	0.61477	0.889	T	0.47661	-0.9100	10	0.25751	T	0.34	-26.5829	8.3718	0.32419	0.0:0.6243:0.0:0.3757	.	640	Q9ULD9	ZN608_HUMAN	N	213;640;640;640	ENSP00000427657:K213N;ENSP00000307746:K640N	ENSP00000307746:K640N	K	-	3	2	ZNF608	124012056	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	0.981000	0.29526	1.369000	0.46134	0.551000	0.68910	AAG	ZNF608	-	NULL		0.498	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984157	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123984157	C	G	123984157	3	3	147	1	0	0	0	0	1	0	0	0	18064	912	32	1	2642	1	ZNF608	5	123984157	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2224911	123984157	56931103	360	23614										
ZNF608	57507	genome.wustl.edu	37	chr5	123984798	123984798	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccccggccccctctcatctCcaggtcacttgtcggtgact	9	18	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:123984798C>G	ENST00000306315.5	-	4	1714	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	427							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTCTCATCTCCAGGTCACTT	0.542																																																	0													23	26	25					5																	123984798		2199	4279	6478	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1279G>C	5.37:g.123984798C>G	ENSP00000307746:p.Glu427Gln		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.E427Q	ENST00000306315.5	37	c.1279	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042901	0.93685	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.58506	0.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77846	-0.2436	10	0.59425	D	0.04	-30.1765	19.1926	0.93672	0.0:1.0:0.0:0.0	.	427	Q9ULD9	ZN608_HUMAN	Q	427	ENSP00000307746:E427Q	ENSP00000307746:E427Q	E	-	1	0	ZNF608	124012697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.802000	0.85969	2.537000	0.85549	0.544000	0.68410	GAG	ZNF608	-	NULL		0.542	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984798	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123984798	C	G	123984798	3	3	147	1	0	0	0	0	1	0	0	0	18064	864	30	1	3283	1	ZNF608	5	123984798	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	641	123984798	56930462	361	23615										
FBN2	2201	genome.wustl.edu	37	chr5	127697517	127697517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atccgttatcacaaagcagtCtgtttactaaacattcatca	4	10	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:127697517C>G	ENST00000508053.1	-	25	3427	c.2453G>C	c.(2452-2454)aGa>aCa	p.R818T	FBN2_ENST00000508989.1_Missense_Mutation_p.R785T|FBN2_ENST00000262464.4_Missense_Mutation_p.R818T			P35556	FBN2_HUMAN	fibrillin 2	818	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAAAGCAGTCTGTTTACTAA	0.418																																																	0													183	158	167					5																	127697517		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2453G>C	5.37:g.127697517C>G	ENSP00000424571:p.Arg818Thr		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R818T	ENST00000508053.1	37	c.2453	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101534	0.20632	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91577	-2.87;-2.87;-2.87	4.67	4.67	0.58626	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.137192	0.49305	D	0.000158	T	0.81278	0.4789	N	0.05280	-0.08	0.42082	D	0.991254	P;B	0.45283	0.855;0.017	B;B	0.41988	0.372;0.025	T	0.80094	-0.1526	10	0.13853	T	0.58	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	785;818	D6RJI3;P35556	.;FBN2_HUMAN	T	818;818;785	ENSP00000262464:R818T;ENSP00000424571:R818T;ENSP00000425596:R785T	ENSP00000262464:R818T	R	-	2	0	FBN2	127725416	0.982000	0.34865	0.998000	0.56505	0.277000	0.26821	3.782000	0.55401	2.882000	0.98803	0.655000	0.94253	AGA	FBN2	-	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127697517	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127697517	C	G	127697517	3	3	147	1	0	0	0	0	1	0	0	0	5721	913	32	1	6473	1	FBN2	5	127697517	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3712719	127697517	53217743	362	23616										
ADAMTS19	171019	genome.wustl.edu	37	chr5	128983517	128983517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctgaacatctggccggagaGtggagcctgtggagtccttg	15	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:128983517G>A	ENST00000274487.4	+	12	2059	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	638	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGCCGGAGAGTGGAGCCTGT	0.532																																																	0													143	142	143					5																	128983517		2203	4300	6503	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1914G>A	5.37:g.128983517G>A				Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E638	ENST00000274487.4	37	c.1914	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.532	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		128983517	1	no_errors	ENST00000274487	ensembl	human	known	70_37	silent	SNP	0.995	A	A	128983517	G	A	128983517	2	1	147	1	0	0	0	0	0	0	0	1	264	1020	36	4		4	ADAMTS19	5	128983517	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1286000	128983517	51931743	363	23617										
CHSY3	337876	genome.wustl.edu	37	chr5	129241194	129241194	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgccacccctgcctgtcatCgcgctaccgggtgtggacga	12	17	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:129241194C>T	ENST00000305031.4	+	1	1030	c.672C>T	c.(670-672)atC>atT	p.I224I	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	224	Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGCCTGTCATCGCGCTACCGG	0.617																																																	0													42	48	46					5																	129241194		2200	4294	6494	SO:0001819	synonymous_variant	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.672C>T	5.37:g.129241194C>T			B2RP97|Q76L22|Q86Y52	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.I224	ENST00000305031.4	37	c.672	CCDS34223.1	5																																																																																			CHSY3	-	pfam_Fringe-like		0.617	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	C	NM_175856		129241194	1	no_errors	ENST00000305031	ensembl	human	known	70_37	silent	SNP	1.000	T	T	129241194	C	T	129241194	2	4	147	1	0	0	0	0	0	0	0	1	3418	874	31	1		1	CHSY3	5	129241194	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	257677	129241194	51674066	364	23618										
SLC22A5	6584	genome.wustl.edu	37	chr5	131714085	131714085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcagtggaacctggtgtgtGaggacgactggaaggcccca	16	9	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:131714085G>C	ENST00000245407.3	+	2	630	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	SLC22A5_ENST00000435065.2_Missense_Mutation_p.E161Q	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	137					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CCTGGTGTGTGAGGACGACTG	0.483																																																	0													358	357	357					5																	131714085		2203	4300	6503	SO:0001583	missense	6584			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.409G>C	5.37:g.131714085G>C	ENSP00000245407:p.Glu137Gln		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E161Q	ENST00000245407.3	37	c.481	CCDS4154.1	5	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689162	0.48097	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	D;D;D	0.86366	-2.11;-2.11;-2.11	5.74	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.763972	0.13531	N	0.380921	D	0.85626	0.5740	M	0.73319	2.225	0.30830	N	0.736844	B;B	0.25272	0.122;0.052	B;B	0.31337	0.128;0.082	T	0.79274	-0.1871	10	0.34782	T	0.22	.	8.777	0.34767	0.1266:0.1268:0.7466:0.0	.	161;137	A2Q0V1;O76082	.;S22A5_HUMAN	Q	137;161;60	ENSP00000245407:E137Q;ENSP00000402760:E161Q;ENSP00000388838:E60Q	ENSP00000245407:E137Q	E	+	1	0	SLC22A5	131741984	0.939000	0.31865	1.000000	0.80357	0.996000	0.88848	1.093000	0.30939	0.409000	0.25649	0.561000	0.74099	GAG	SLC22A5	-	pfam_Sub_transporter,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.483	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	G	NM_003060		131714085	1	no_errors	ENST00000435065	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131714085	G	C	131714085	3	2	147	1	0	0	0	0	1	0	0	0	14487	1291	45	1	415	1	SLC22A5	5	131714085	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2472891	131714085	49201175	365	23619										
C5orf56	441108	genome.wustl.edu	37	chr5	131796532	131796532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgcagcttataatcaagtaGagagacagacataaatgatt	8	5	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:131796532G>A	ENST00000337752.2	+	4	498	c.367G>A	c.(367-369)Gag>Aag	p.E123K	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	123										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						taatcaagtagagagacagac	0.488																																																	0													23	19	21					5																	131796532		2193	4276	6469	SO:0001583	missense	441108			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.367G>A	5.37:g.131796532G>A	ENSP00000338228:p.Glu123Lys		A1L3V9|A6NKA0	Missense_Mutation	SNP	NULL	p.E123K	ENST00000337752.2	37	c.367		5	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283815	0.10458	.	.	ENSG00000197536	ENST00000337752	.	.	.	3.05	-0.84	0.10755	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.28038	-1.0056	7	0.87932	D	0	.	2.6385	0.04964	0.3803:0.0:0.4069:0.2129	.	123	Q8N8D9	CE056_HUMAN	K	123	.	ENSP00000338228:E123K	E	+	1	0	C5orf56	131824431	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.162000	0.16501	-0.224000	0.09928	-0.137000	0.14449	GAG	C5orf56	-	NULL		0.488	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	C5orf56	HGNC	protein_coding	OTTHUMT00000132329.1	G	NM_001013717		131796532	1	no_errors	ENST00000337752	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	131796532	G	A	131796532	3	1	147	1	0	0	0	0	1	0	0	0	2317	943	33	1	377	1	C5orf56	5	131796532	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	82447	131796532	49118728	366	23620										
PHF15	23338	genome.wustl.edu	37	chr5	133873703	133873703	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcgacatctacatccgcatCaagatgctccaaactgccca	6	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:133873703C>G	ENST00000402835.1	+	3	338	c.83C>G	c.(82-84)tCa>tGa	p.S28*	PHF15_ENST00000282605.4_Nonsense_Mutation_p.S28*|PHF15_ENST00000395003.1_Nonsense_Mutation_p.S28*|PHF15_ENST00000361895.2_Nonsense_Mutation_p.S28*																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATCCGCATCAAGATGCTCC	0.572																																																	0													89	83	85					5																	133873703		2203	4300	6503	SO:0001587	stop_gained	23338																														ENST00000402835.1:c.83C>G	5.37:g.133873703C>G	ENSP00000384671:p.Ser28*			Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S44*	ENST00000402835.1	37	c.131		5	.	.	.	.	.	.	.	.	.	.	C	38	6.657164	0.97739	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	.	.	.	5.77	4.9	0.64082	.	23.323500	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.5355	0.56140	0.0:0.9239:0.0:0.0761	.	.	.	.	X	28;28;44;28;28;28;28;28;28	.	ENSP00000282605:S28X	S	+	2	0	PHF15	133901602	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.157000	0.50716	2.724000	0.93272	0.561000	0.74099	TCA	PHF15	-	NULL		0.572	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	C			133873703	1	no_errors	ENST00000448712	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	133873703	C	G	133873703	4	3	147	1	0	0	0	0	0	1	0	0	11850	838	29	1	89	1	PHF15	5	133873703	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2077171	133873703	47041557	367	23621										
KLHL3	26249	genome.wustl.edu	37	chr5	136997701	136997701	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttctcataattgatccatGagatcacagcttcaaacacc	4	12	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:136997701G>C	ENST00000309755.4	-	7	1099	c.656C>G	c.(655-657)tCa>tGa	p.S219*	KLHL3_ENST00000508657.1_Nonsense_Mutation_p.S187*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.S137*|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000394937.3_Nonsense_Mutation_p.S219*|KLHL3_ENST00000541417.1_Nonsense_Mutation_p.S99*	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	219	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATTGATCCATGAGATCACAGC	0.393																																																	0													114	100	105					5																	136997701		2203	4300	6503	SO:0001587	stop_gained	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.656C>G	5.37:g.136997701G>C	ENSP00000312397:p.Ser219*		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S219*	ENST00000309755.4	37	c.656	CCDS4192.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.832712	0.98513	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	.	.	.	4.99	4.99	0.66335	.	0.209839	0.42053	D	0.000765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.1994	0.54315	0.0779:0.0:0.9221:0.0	.	.	.	.	X	137;187;219;99;179;219	.	ENSP00000312397:S219X	S	-	2	0	KLHL3	137025600	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.753000	0.85153	2.767000	0.95098	0.655000	0.94253	TCA	KLHL3	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.393	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2	G			136997701	-1	no_errors	ENST00000309755	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	136997701	G	C	136997701	4	2	147	1	0	0	0	0	0	1	0	0	8403	1294	45	1	1143	1	KLHL3	5	136997701	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3123998	136997701	43917559	368	23622										
CTNNA1	1495	genome.wustl.edu	37	chr5	138268317	138268317	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggcctacctgcaacgcatCgccctctactgccaccagct	7	19	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:138268317C>T	ENST00000302763.7	+	17	2439	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	CTNNA1_ENST00000540387.1_Silent_p.I413I|CTNNA1_ENST00000518825.1_Silent_p.I783I|CTNNA1_ENST00000355078.5_Silent_p.I680I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	783					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCAACGCATCGCCCTCTACT	0.587																																																	0													62	55	57					5																	138268317		2203	4300	6503	SO:0001819	synonymous_variant	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2349C>T	5.37:g.138268317C>T			Q12795|Q8N1C0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.I783	ENST00000302763.7	37	c.2349	CCDS34243.1	5																																																																																			CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin		0.587	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	C	NM_001903		138268317	1	no_errors	ENST00000302763	ensembl	human	known	70_37	silent	SNP	0.992	T	T	138268317	C	T	138268317	2	4	147	1	0	0	0	0	0	0	0	1	4017	874	31	1		1	CTNNA1	5	138268317	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1270616	138268317	42646943	369	23623										
MGC29506	51237	genome.wustl.edu	37	chr5	138723467	138723467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccaggactagagctcttctCttgtggctgacaccttctct	8	13	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:138723467C>G	ENST00000302125.8	-	4	614	c.557G>C	c.(556-558)aGa>aCa	p.R186T	MZB1_ENST00000412103.2_Missense_Mutation_p.R94T	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	186					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											GAGCTCTTCTCTTGTGGCTGA	0.607																																																	0													69	73	71					5																	138723467		1936	4150	6086	SO:0001583	missense	51237			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.557G>C	5.37:g.138723467C>G	ENSP00000303920:p.Arg186Thr		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Missense_Mutation	SNP	NULL	p.R94T	ENST00000302125.8	37	c.281	CCDS47273.1	5	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787522	0.49997	.	.	ENSG00000170476	ENST00000302125;ENST00000412103	.	.	.	4.53	1.77	0.24775	.	.	.	.	.	T	0.25457	0.0619	L	0.34521	1.04	0.09310	N	0.999994	B;B;B	0.33694	0.421;0.403;0.18	B;B;B	0.33295	0.112;0.161;0.077	T	0.20806	-1.0264	8	0.87932	D	0	-16.922	5.9741	0.19369	0.0:0.6773:0.0:0.3227	.	186;94;186	D2IYS0;Q8WU39-3;Q8WU39	.;.;PERP1_HUMAN	T	186;94	.	ENSP00000303920:R186T	R	-	2	0	RP11-1280I22.1	138751366	0.010000	0.17322	0.067000	0.19924	0.011000	0.07611	0.634000	0.24614	0.648000	0.30732	0.462000	0.41574	AGA	MZB1	-	NULL		0.607	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1	C	NM_016459		138723467	-1	no_errors	ENST00000412103	ensembl	human	known	70_37	missense	SNP	0.019	G	G	138723467	C	G	138723467	3	3	147	1	0	0	0	0	1	0	0	0	9574	913	32	1	16	1	MGC29506	5	138723467	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	455150	138723467	42191793	370	23624										
MGC29506	51237	genome.wustl.edu	37	chr5	138723536	138723536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcaatgcctccagagcccctCggccttgttggtgggcttca	12	14	1	1	rs372851416		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:138723536C>A	ENST00000302125.8	-	4	545	c.488G>T	c.(487-489)cGa>cTa	p.R163L	MZB1_ENST00000412103.2_Missense_Mutation_p.R71L	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	163					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											CAGAGCCCCTCGGCCTTGTTG	0.592																																																	0													69	72	71					5																	138723536		1875	4104	5979	SO:0001583	missense	51237			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.488G>T	5.37:g.138723536C>A	ENSP00000303920:p.Arg163Leu		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Missense_Mutation	SNP	NULL	p.R71L	ENST00000302125.8	37	c.212	CCDS47273.1	5	.	.	.	.	.	.	.	.	.	.	C	5.774	0.327225	0.10900	.	.	ENSG00000170476	ENST00000302125;ENST00000412103	T	0.36520	1.25	4.7	-9.41	0.00613	.	.	.	.	.	T	0.25975	0.0633	L	0.40543	1.245	0.22918	N	0.998569	B;B;P	0.36282	0.174;0.275;0.546	B;B;B	0.30105	0.1;0.099;0.111	T	0.08269	-1.0730	9	0.33141	T	0.24	5.077	20.244	0.98389	0.0:0.7964:0.0:0.2036	.	163;71;163	D2IYS0;Q8WU39-3;Q8WU39	.;.;PERP1_HUMAN	L	163;71	ENSP00000303920:R163L	ENSP00000303920:R163L	R	-	2	0	RP11-1280I22.1	138751435	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.898000	0.00339	-2.142000	0.00804	-1.360000	0.01215	CGA	MZB1	-	NULL		0.592	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1	C	NM_016459		138723536	-1	no_errors	ENST00000412103	ensembl	human	known	70_37	missense	SNP	0.000	A	A	138723536	C	A	138723536	3	1	147	1	0	0	0	0	1	0	0	0	9574	884	31	3	85	3	MGC29506	5	138723536	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	69	138723536	42191724	371	23625										
ANKHD1	54882	genome.wustl.edu	37	chr5	139815719	139815719	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttattttggaccaagaagatCtggataacccagtgcttaaa	8	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:139815719C>G	ENST00000360839.2	+	2	491	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ANKHD1_ENST00000297183.6_Missense_Mutation_p.L113V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L113V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L113V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L113V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	113						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAGATCTGGATAACCC	0.358																																																	0													59	62	61					5																	139815719		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.337C>G	5.37:g.139815719C>G	ENSP00000354085:p.Leu113Val		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L113V	ENST00000360839.2	37	c.337	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926934	0.52759	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.70631	-0.39;-0.43;-0.31;-0.2;-0.5;-0.18;-0.43	5.47	1.07	0.20283	.	0.000000	0.64402	D	0.000009	T	0.70176	0.3194	L	0.27053	0.805	0.50171	D	0.999856	P;D;D;P;P	0.69078	0.925;0.997;0.997;0.73;0.753	P;D;D;B;B	0.72625	0.73;0.978;0.978;0.312;0.381	T	0.66168	-0.5991	10	0.51188	T	0.08	.	8.6417	0.33981	0.0:0.5733:0.0:0.4267	.	113;113;113;113;113	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	113;127;113;113;113;113;113;113;113	ENSP00000354085:L113V;ENSP00000297183:L113V;ENSP00000394489:L113V;ENSP00000378212:L113V;ENSP00000421069:L113V;ENSP00000378211:L113V;ENSP00000432016:L113V	ENSP00000432016:L113V	L	+	1	2	ANKHD1-EIF4EBP3;ANKHD1	139795903	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	1.322000	0.33689	-0.124000	0.11724	0.655000	0.94253	CTG	ANKHD1	-	NULL		0.358	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139815719	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139815719	C	G	139815719	3	3	147	1	0	0	0	0	1	0	0	0	628	912	32	1	343	1	ANKHD1	5	139815719	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1092183	139815719	41099541	372	23626										
SRA1	10307	genome.wustl.edu	37	chr5	139937066	139937066	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgcttggccagcggggcagCgcgtcatttccggggcggcc	17	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:139937066C>T	ENST00000357560.4	-	0	2218				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.R3H	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGGCAGCGCGTCATTTC	0.687																																																	0													7	8	7					5																	139937066		2111	4154	6265	SO:0001628	intergenic_variant	10011			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504		5.37:g.139937066C>T			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_SRA1-protein/COPII_Sec31	p.R3H	ENST00000357560.4	37	c.8	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158255	0.38119	.	.	ENSG00000213523	ENST00000336283	T	0.48201	0.82	4.81	-0.277	0.12898	.	0.893166	0.09107	U	0.847560	T	0.29620	0.0739	L	0.36672	1.1	0.20764	N	0.999851	B	0.10296	0.003	B	0.04013	0.001	T	0.23619	-1.0183	9	.	.	.	2.7013	0.5671	0.00689	0.2775:0.3382:0.1356:0.2488	.	3	Q9HD15	SRA1_HUMAN	H	3	ENSP00000337513:R3H	.	R	-	2	0	SRA1	139917250	0.000000	0.05858	0.107000	0.21349	0.433000	0.31745	-0.647000	0.05397	-0.013000	0.14199	-0.350000	0.07774	CGC	SRA1	-	NULL		0.687	APBB3-003	KNOWN	basic|CCDS	protein_coding	SRA1	HGNC	protein_coding	OTTHUMT00000251677.2	C	NM_006051		139937066	-1	no_errors	ENST00000336283	ensembl	human	known	70_37	missense	SNP	0.017	T	T	139937066	C	T	139937066	1	4	147	0	1	0	0	0	0	0	0	0	15162	768	27	2		2	SRA1	5	139937066	IGR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	121347	139937066	40978194	373	23627										
PCDHA5	56143	genome.wustl.edu	37	chr5	140201806	140201806	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agagtcaagaatgccagattCgcggtttccgctagagggcg	14	9	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140201806C>G	ENST00000529859.1	+	1	446	c.446C>G	c.(445-447)tCg>tGg	p.S149W	PCDHA5_ENST00000378126.3_Missense_Mutation_p.S149W|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S149W|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	149					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGATTCGCGGTTTCCG	0.423																																																	0													49	54	52					5																	140201806		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.446C>G	5.37:g.140201806C>G	ENSP00000436557:p.Ser149Trp		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S149W	ENST00000529859.1	37	c.446	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503938	0.64410	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.21932	1.98;1.98;1.98	4.02	4.02	0.46733	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.60470	0.2271	H	0.95884	3.735	0.35496	D	0.799391	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.955;0.977	T	0.81437	-0.0933	9	0.87932	D	0	.	16.5119	0.84288	0.0:1.0:0.0:0.0	.	149;149;149	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	149	ENSP00000433416:S149W;ENSP00000436557:S149W;ENSP00000367366:S149W	ENSP00000367366:S149W	S	+	2	0	PCDHA5	140181990	0.545000	0.26449	0.905000	0.35620	0.985000	0.73830	4.753000	0.62183	1.946000	0.56461	0.591000	0.81541	TCG	PCDHA5	-	superfamily_Cadherin-like		0.423	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	C	NM_018908		140201806	1	no_errors	ENST00000529859	ensembl	human	known	70_37	missense	SNP	0.454	G	G	140201806	C	G	140201806	3	3	147	1	0	0	0	0	1	0	0	0	11551	893	31	1	448	1	PCDHA5	5	140201806	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	264740	140201806	40713454	374	23628										
PCDHA11	56138	genome.wustl.edu	37	chr5	140249474	140249474	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctaaagaaactcttgtgctCaaactaaacgccacagaccg	7	12	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140249474C>G	ENST00000398640.2	+	1	786	c.786C>G	c.(784-786)ctC>ctG	p.L262L	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	262	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTGTGCTCAAACTAAACG	0.398																																																	0													34	33	33					5																	140249474		1920	4142	6062	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.786C>G	5.37:g.140249474C>G			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L262	ENST00000398640.2	37	c.786	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.398	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	C	NM_018902		140249474	1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	0.000	G	G	140249474	C	G	140249474	2	3	147	1	0	0	0	0	0	0	0	1	11545	813	29	1		1	PCDHA11	5	140249474	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	47668	140249474	40665786	375	23629										
PCDHA13	56136	genome.wustl.edu	37	chr5	140262969	140262969	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcgccattattgccctaatCagtgtgtccgatcgtgactc	9	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140262969C>T	ENST00000289272.2	+	1	1116	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.I372I|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCCTAATCAGTGTGTCCG	0.498																																					Melanoma(147;1739 1852 5500 27947 37288)												0													128	127	127					5																	140262969		2203	4300	6503	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1116C>T	5.37:g.140262969C>T			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I372	ENST00000289272.2	37	c.1116	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140262969	1	no_errors	ENST00000289272	ensembl	human	known	70_37	silent	SNP	0.110	T	T	140262969	C	T	140262969	2	4	147	1	0	0	0	0	0	0	0	1	11547	816	29	1		1	PCDHA13	5	140262969	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	13495	140262969	40652291	376	23630										
PCDHB3	56132	genome.wustl.edu	37	chr5	140482531	140482531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggacaaatgagttcaagttCctgaagccaattatccccaa	8	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140482531C>G	ENST00000231130.2	+	1	2298	c.2298C>G	c.(2296-2298)ttC>ttG	p.F766L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	766					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCAAGTTCCTGAAGCCAA	0.532																																																	0													67	67	67					5																	140482531		2199	4280	6479	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2298C>G	5.37:g.140482531C>G	ENSP00000231130:p.Phe766Leu		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F766L	ENST00000231130.2	37	c.2298	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291389	0.40494	.	.	ENSG00000113205	ENST00000231130	T	0.18657	2.2	4.17	2.37	0.29283	.	.	.	.	.	T	0.26412	0.0645	M	0.81682	2.555	0.27667	N	0.946882	B	0.19200	0.034	B	0.20384	0.029	T	0.24799	-1.0150	9	0.66056	D	0.02	.	7.104	0.25353	0.0:0.7038:0.0:0.2962	.	766	Q9Y5E6	PCDB3_HUMAN	L	766	ENSP00000231130:F766L	ENSP00000231130:F766L	F	+	3	2	PCDHB3	140462715	0.000000	0.05858	0.124000	0.21820	0.179000	0.23085	-0.660000	0.05317	0.334000	0.23590	0.491000	0.48974	TTC	PCDHB3	-	NULL		0.532	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140482531	1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.964	G	G	140482531	C	G	140482531	3	3	147	1	0	0	0	0	1	0	0	0	11567	854	30	1	2300	1	PCDHB3	5	140482531	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	219562	140482531	40432729	377	23631										
PCDHB15	56121	genome.wustl.edu	37	chr5	140625700	140625700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccatgtttccactcgcacccGaggggatggcaggaaatacc	11	13	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140625700G>C	ENST00000231173.3	+	1	554	c.554G>C	c.(553-555)cGa>cCa	p.R185P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R185Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCACCCGAGGGGATGGC	0.517																																																	1	Substitution - Missense(1)	NS(1)											44	45	45					5																	140625700		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.554G>C	5.37:g.140625700G>C	ENSP00000231173:p.Arg185Pro		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R185P	ENST00000231173.3	37	c.554	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515116	0.27123	.	.	ENSG00000113248	ENST00000231173	T	0.20200	2.09	4.92	-1.61	0.08399	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40067	0.1102	M	0.85099	2.735	0.09310	N	1	P	0.46656	0.882	P	0.61477	0.889	T	0.24083	-1.0170	9	0.39692	T	0.17	.	5.2054	0.15287	0.2806:0.0:0.4914:0.2281	.	185	Q9Y5E8	PCDBF_HUMAN	P	185	ENSP00000231173:R185P	ENSP00000231173:R185P	R	+	2	0	PCDHB15	140605884	0.000000	0.05858	0.001000	0.08648	0.514000	0.34195	-0.263000	0.08670	-0.308000	0.08792	-1.247000	0.01520	CGA	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	G	NM_018935		140625700	1	no_errors	ENST00000231173	ensembl	human	known	70_37	missense	SNP	0.000	C	C	140625700	G	C	140625700	3	2	147	1	0	0	0	0	1	0	0	0	11564	1058	37	1	556	1	PCDHB15	5	140625700	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	143169	140625700	40289560	378	23632										
PRELID2	153768	genome.wustl.edu	37	chr5	145198965	145198965	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttccaacaaagaatcaccaGagtgcttaaggacttcaaag	7	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:145198965G>C	ENST00000334744.4	-	4	272	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	PRELID2_ENST00000358004.2_Intron|PRELID2_ENST00000511435.1_Intron|PRELID2_ENST00000505416.1_Intron|PRELID2_ENST00000394450.2_Intron	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	74	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAATCACCAGAGTGCTTAAG	0.353																																																	0													89	87	88					5																	145198965		2202	4300	6502	SO:0001583	missense	153768			AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.220C>G	5.37:g.145198965G>C	ENSP00000335675:p.Leu74Val		G5EA01|Q96EQ3	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	p.L74V	ENST00000334744.4	37	c.220	CCDS34262.1	5	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970480	0.34754	.	.	ENSG00000186314	ENST00000334744	T	0.16897	2.31	5.43	4.54	0.55810	PRELI/MSF1 (2);	0.000000	0.42682	D	0.000672	T	0.12390	0.0301	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.30251	0.113	T	0.11665	-1.0578	10	0.26408	T	0.33	-51.3277	10.6446	0.45613	0.0932:0.0:0.9068:0.0	.	74	Q8N945	PRLD2_HUMAN	V	74	ENSP00000335675:L74V	ENSP00000335675:L74V	L	-	1	2	PRELID2	145179158	0.997000	0.39634	0.997000	0.53966	0.662000	0.39071	2.822000	0.48073	2.708000	0.92522	0.563000	0.77884	CTG	PRELID2	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.353	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRELID2	HGNC	protein_coding	OTTHUMT00000372970.1	G	NM_182960		145198965	-1	no_errors	ENST00000334744	ensembl	human	known	70_37	missense	SNP	0.973	C	C	145198965	G	C	145198965	3	2	147	1	0	0	0	0	1	0	0	0	12499	933	33	1	365	1	PRELID2	5	145198965	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4573265	145198965	35716295	379	23633										
SH3TC2	79628	genome.wustl.edu	37	chr5	148422400	148422400	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctagacacatggatacgtagCctaagaagtcaagccaacaa	8	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:148422400C>A	ENST00000515425.1	-	5	487	c.386G>T	c.(385-387)gGc>gTc	p.G129V	SH3TC2_ENST00000538184.1_5'Flank|SH3TC2_ENST00000394358.2_Splice_Site_p.G14V|SH3TC2_ENST00000512049.1_Intron	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	129					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATACGTAGCCTAAGAAGTC	0.428																																																	0													130	119	123					5																	148422400		2203	4300	6503	SO:0001630	splice_region_variant	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.386-1G>T	5.37:g.148422400C>A			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.G129V	ENST00000515425.1	37	c.386	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282488	0.59867	.	.	ENSG00000169247	ENST00000515425;ENST00000394358	D;D	0.96073	-3.9;-3.36	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98162	1.0447	10	0.87932	D	0	.	18.1248	0.89581	0.0:1.0:0.0:0.0	.	14;129	C9JLC3;Q8TF17	.;S3TC2_HUMAN	V	129;14	ENSP00000423660:G129V;ENSP00000377886:G14V	ENSP00000313025:G129V	G	-	2	0	SH3TC2	148402593	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.066000	0.71185	2.597000	0.87782	0.655000	0.94253	GGC	SH3TC2	-	NULL		0.428	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	C	NM_024577	Missense_Mutation	148422400	-1	no_errors	ENST00000515425	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148422400	C	A	148422400	5	1	147	1	0	0	0	0	0	0	1	0	14292	753	26	4	3532	4	SH3TC2	5	148422400	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3223435	148422400	32492860	380	23634										
ARHGEF37	389337	genome.wustl.edu	37	chr5	148977374	148977374	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagccatcctccaggtcaggGagtccggacagggaaggtag	16	10	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:148977374G>A	ENST00000333677.6	+	2	205	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	14						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCAGGTCAGGGAGTCCGGACA	0.572																																																	0													52	53	53					5																	148977374		2019	4162	6181	SO:0001819	synonymous_variant	389337			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.42G>A	5.37:g.148977374G>A			Q6ZW51	Silent	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.G14	ENST00000333677.6	37	c.42	CCDS43385.1	5																																																																																			ARHGEF37	-	superfamily_DH-domain		0.572	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	G	NM_001001669		148977374	1	no_errors	ENST00000333677	ensembl	human	known	70_37	silent	SNP	0.008	A	A	148977374	G	A	148977374	2	1	147	1	0	0	0	0	0	0	0	1	906	1161	41	1		1	ARHGEF37	5	148977374	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	554974	148977374	31937886	381	23635										
SLC6A7	6534	genome.wustl.edu	37	chr5	149576289	149576289	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcccggcaggcgccttcctCgtgccctacttcctcatgct	8	19	1	0	rs2229414	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:149576289C>A	ENST00000230671.2	+	3	599	c.228C>A	c.(226-228)ctC>ctA	p.L76L	SLC6A7_ENST00000524041.1_Silent_p.L76L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	76					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCGCCTTCCTCGTGCCCTACT	0.677																																																	0													82	98	92					5																	149576289		2203	4300	6503	SO:0001819	synonymous_variant	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.228C>A	5.37:g.149576289C>A			Q0VG81|Q52LU6	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L76	ENST00000230671.2	37	c.228	CCDS4305.1	5																																																																																			SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.677	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	C	NM_014228		149576289	1	no_errors	ENST00000230671	ensembl	human	known	70_37	silent	SNP	0.576	A	A	149576289	C	A	149576289	2	1	147	1	0	0	0	0	0	0	0	1	14719	871	31	3		3	SLC6A7	5	149576289	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	598915	149576289	31338971	382	23636										
SLC6A7	6534	genome.wustl.edu	37	chr5	149581972	149581972	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgggcttcggggggctcctCacctttgcctcctacaacac	11	15	1	0	rs151201537	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:149581972C>G	ENST00000230671.2	+	7	1292	c.921C>G	c.(919-921)ctC>ctG	p.L307L	SLC6A7_ENST00000524041.1_Silent_p.L307L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	307					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGGGGCTCCTCACCTTTGCCT	0.582																																																	0													114	122	119					5																	149581972		2203	4300	6503	SO:0001819	synonymous_variant	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.921C>G	5.37:g.149581972C>G			Q0VG81|Q52LU6	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L307	ENST00000230671.2	37	c.921	CCDS4305.1	5																																																																																			SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.582	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	C	NM_014228		149581972	1	no_errors	ENST00000230671	ensembl	human	known	70_37	silent	SNP	1.000	G	G	149581972	C	G	149581972	2	3	147	1	0	0	0	0	0	0	0	1	14719	813	29	1		1	SLC6A7	5	149581972	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5683	149581972	31333288	383	23637										
FAT2	2196	genome.wustl.edu	37	chr5	150947186	150947186	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggtggaggcctggcccggtGaggttctgatgtgtagctga	18	8	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:150947186G>C	ENST00000261800.5	-	1	1319	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	436	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S436L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCCCGGTGAGGTTCTGAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											131	127	128					5																	150947186		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1307C>G	5.37:g.150947186G>C	ENSP00000261800:p.Ser436*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S436*	ENST00000261800.5	37	c.1307	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691329	0.88735	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.59	5.59	0.84812	.	0.334395	0.25729	N	0.028695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.7496	0.77972	0.0:0.2739:0.7261:0.0	.	.	.	.	X	436	.	ENSP00000261800:S436X	S	-	2	0	FAT2	150927379	0.066000	0.20996	0.247000	0.24249	0.514000	0.34195	1.745000	0.38278	2.642000	0.89623	0.561000	0.74099	TCA	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150947186	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	0.266	C	C	150947186	G	C	150947186	4	2	147	1	0	0	0	0	0	1	0	0	5708	1294	45	1	11834	1	FAT2	5	150947186	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1365214	150947186	29968074	384	23638										
GRIA1	2890	genome.wustl.edu	37	chr5	153078478	153078478	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaatcagtttgagggcaatGaccgttacgagggctactgt	12	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:153078478G>A	ENST00000285900.5	+	10	1640	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	GRIA1_ENST00000448073.4_Missense_Mutation_p.D443N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D433N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D364N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D443N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D353N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	433					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGAGGGCAATGACCGTTACGA	0.507																																																	0													136	118	124					5																	153078478		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1297G>A	5.37:g.153078478G>A	ENSP00000285900:p.Asp433Asn		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D443N	ENST00000285900.5	37	c.1327	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329846	0.81690	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38560	1.74;1.74;1.13;1.74;1.74;1.74;1.13	5.4	5.4	0.78164	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.092201	0.64402	D	0.000001	T	0.47764	0.1463	M	0.63169	1.94	0.80722	D	1	B;B;B;B;B;B	0.15930	0.002;0.002;0.015;0.002;0.0;0.007	B;B;B;B;B;B	0.27262	0.01;0.01;0.078;0.01;0.004;0.061	T	0.47623	-0.9103	10	0.87932	D	0	.	18.2198	0.89898	0.0:0.0:1.0:0.0	.	443;443;353;443;433;433	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	N	433;433;353;387;433;364;364;443;443	ENSP00000285900:D433N;ENSP00000427920:D353N;ENSP00000339343:D433N;ENSP00000427864:D364N;ENSP00000442108:D364N;ENSP00000428994:D443N;ENSP00000415569:D443N	ENSP00000285900:D433N	D	+	1	0	GRIA1	153058671	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.694000	0.84235	2.543000	0.85770	0.650000	0.86243	GAC	GRIA1	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	G			153078478	1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153078478	G	A	153078478	3	1	147	1	0	0	0	0	1	0	0	0	6787	1290	45	1	1335	1	GRIA1	5	153078478	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2131292	153078478	27836782	385	23639										
HAND1	9421	genome.wustl.edu	37	chr5	153857329	153857329	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctccagccgcccggggctCtgcccaggcctggcgtcagg	15	18	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:153857329C>T	ENST00000231121.2	-	1	495	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	80					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCCGGGGCTCTGCCCAGGCC	0.731																																																	0													11	12	12					5																	153857329		2185	4279	6464	SO:0001819	synonymous_variant	9421			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"Basic helix-loop-helix proteins"	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.240G>A	5.37:g.153857329C>T				Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q80	ENST00000231121.2	37	c.240	CCDS4327.1	5																																																																																			HAND1	-	NULL		0.731	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND1	HGNC	protein_coding	OTTHUMT00000252511.1	C	NM_004821		153857329	-1	no_errors	ENST00000231121	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153857329	C	T	153857329	2	4	147	1	0	0	0	0	0	0	0	1	6969	912	32	1		1	HAND1	5	153857329	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	778851	153857329	27057931	386	23640										
LARP1	23367	genome.wustl.edu	37	chr5	154188117	154188117	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acttcaacaaaaagatgtatGaggagttcaagcagctggct	10	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:154188117G>C	ENST00000336314.4	+	16	2590	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	933					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGATGTATGAGGAGTTCAA	0.532																																																	0													75	74	74					5																	154188117		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2566G>C	5.37:g.154188117G>C	ENSP00000336721:p.Glu856Gln		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.E856Q	ENST00000336314.4	37	c.2566	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297626	0.81025	.	.	ENSG00000155506	ENST00000336314	T	0.26660	1.72	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	L	0.55743	1.74	0.80722	D	1	B;B	0.28667	0.053;0.219	B;B	0.30943	0.03;0.122	T	0.04281	-1.0963	10	0.52906	T	0.07	-13.3605	20.1082	0.97900	0.0:0.0:1.0:0.0	.	933;856	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	856	ENSP00000336721:E856Q	ENSP00000336721:E856Q	E	+	1	0	LARP1	154168310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.643000	0.98464	2.764000	0.94973	0.555000	0.69702	GAG	LARP1	-	smart_DM15		0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154188117	1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154188117	G	C	154188117	3	2	147	1	0	0	0	0	1	0	0	0	8648	1291	45	1	2628	1	LARP1	5	154188117	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	330788	154188117	26727143	387	23641										
PANK3	79646	genome.wustl.edu	37	chr5	167990942	167990942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaatctttcataatctcctCcataaatatcacggaccagc	3	13	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:167990942C>T	ENST00000239231.6	-	4	1080	c.764G>A	c.(763-765)gGa>gAa	p.G255E	PANK3_ENST00000520504.1_Intron|MIR103A1_ENST00000362165.1_RNA	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	255					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ATAATCTCCTCCATAAATATC	0.383																																																	0													127	134	132					5																	167990942		2203	4300	6503	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.764G>A	5.37:g.167990942C>T	ENSP00000239231:p.Gly255Glu		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.G255E	ENST00000239231.6	37	c.764	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937117	0.92458	.	.	ENSG00000120137	ENST00000239231	D	0.99745	-6.61	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.87932	D	0	-13.4297	17.4478	0.87583	0.0:1.0:0.0:0.0	.	255	Q9H999	PANK3_HUMAN	E	255	ENSP00000239231:G255E	ENSP00000239231:G255E	G	-	2	0	PANK3	167923520	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.669000	0.83911	2.432000	0.82394	0.591000	0.81541	GGA	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	C	NM_024594		167990942	-1	no_errors	ENST00000239231	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167990942	C	T	167990942	3	4	147	1	0	0	0	0	1	0	0	0	11442	855	30	1	364	1	PANK3	5	167990942	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	13802825	167990942	12924318	388	23642										
CCDC99	54908	genome.wustl.edu	37	chr5	169020517	169020517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtcttcagagatgctggctCttcaaattgagctgacagaa	10	8	4	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:169020517C>G	ENST00000265295.4	+	4	775	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATGCTGGCTCTTCAAATTGA	0.398																																																	0													106	105	105					5																	169020517		2203	4300	6503	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.496C>G	5.37:g.169020517C>G	ENSP00000265295:p.Leu166Val			Missense_Mutation	SNP	NULL	p.L166V	ENST00000265295.4	37	c.496	CCDS4370.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.687765|3.687765	0.68157|0.68157	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000513941|ENST00000505977	T|.	0.38887|.	1.11|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.119604|.	0.56097|.	D|.	0.000021|.	T|T	0.73877|0.73877	0.3643|0.3643	L|L	0.58810|0.58810	1.83|1.83	0.54753|0.54753	D|D	0.999982|0.999982	P;D|.	0.56521|.	0.663;0.976|.	B;P|.	0.59171|.	0.323;0.853|.	T|T	0.68992|0.68992	-0.5263|-0.5263	10|5	0.62326|.	D|.	0.03|.	-12.3512|-12.3512	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	166;166|.	Q96EA4-2;Q96EA4|.	.;SPDLY_HUMAN|.	V|C	166|94	ENSP00000265295:L166V|.	ENSP00000265295:L166V|.	L|S	+|+	1|2	0|0	CCDC99|CCDC99	168953095|168953095	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.655000|0.655000	0.38815|0.38815	5.065000|5.065000	0.64344|0.64344	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CTT|TCT	SPDL1	-	NULL		0.398	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	C	NM_017785		169020517	1	no_errors	ENST00000265295	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169020517	C	G	169020517	3	3	147	1	0	0	0	0	1	0	0	0	2881	913	32	1	506	1	CCDC99	5	169020517	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1029575	169020517	11894743	389	23643										
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171765890	171765890	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaggaacaggcacgctcttaGacacaggatctgtggtcttg	13	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:171765890G>C	ENST00000311601.5	-	13	2389	c.2219C>G	c.(2218-2220)tCt>tGt	p.S740C	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	740	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACGCTCTTAGACACAGGATC	0.612																																																	0													42	46	45					5																	171765890		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2219C>G	5.37:g.171765890G>C	ENSP00000309714:p.Ser740Cys		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.S740C	ENST00000311601.5	37	c.2219	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	G	1.807	-0.475702	0.04414	.	.	ENSG00000174705	ENST00000311601	T	0.61392	0.11	5.42	3.63	0.41609	.	0.511841	0.19546	N	0.111697	T	0.30417	0.0764	N	0.08118	0	0.09310	N	1	P	0.36495	0.556	B	0.34038	0.174	T	0.08229	-1.0732	9	.	.	.	-0.9233	6.3562	0.21402	0.2782:0.0:0.7218:0.0	.	740	A1X283	SPD2B_HUMAN	C	740	ENSP00000309714:S740C	.	S	-	2	0	SH3PXD2B	171698495	0.005000	0.15991	0.002000	0.10522	0.014000	0.08584	1.259000	0.32956	1.287000	0.44583	0.561000	0.74099	TCT	SH3PXD2B	-	NULL		0.612	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	G	NM_017963		171765890	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	missense	SNP	0.002	C	C	171765890	G	C	171765890	3	2	147	1	0	0	0	0	1	0	0	0	14287	942	33	1	520	1	SH3PXD2B	5	171765890	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2745373	171765890	9149370	390	23644										
CPEB4	80315	genome.wustl.edu	37	chr5	173317731	173317731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacgcccctgaactccatctCgcctttgaagaaaaattttg	6	12	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:173317731C>T	ENST00000265085.5	+	1	2449	c.995C>T	c.(994-996)tCg>tTg	p.S332L	CPEB4_ENST00000519835.1_Missense_Mutation_p.S332L|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.S332L|CPEB4_ENST00000334035.5_Missense_Mutation_p.S332L|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	332					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACTCCATCTCGCCTTTGAAG	0.537																																																	0													56	56	56					5																	173317731		2203	4300	6503	SO:0001583	missense	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.995C>T	5.37:g.173317731C>T	ENSP00000265085:p.Ser332Leu		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S332L	ENST00000265085.5	37	c.995	CCDS4390.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.197346|4.197346	0.79015|0.79015	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000519152|ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	.|T;T;T;T	.|0.64991	.|-0.08;-0.13;-0.03;0.03	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78966|0.78966	0.4367|0.4367	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.997;0.999;0.997;0.997	T|T	0.80897|0.80897	-0.1177|-0.1177	5|10	.|0.87932	.|D	.|0	-6.4381|-6.4381	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|332;332;332;332	.|B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.|.;.;.;CPEB4_HUMAN	C|L	18|332	.|ENSP00000265085:S332L;ENSP00000429092:S332L;ENSP00000334533:S332L;ENSP00000429048:S332L	.|ENSP00000265085:S332L	R|S	+|+	1|2	0|0	CPEB4|CPEB4	173250337|173250337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.786000|7.786000	0.85741|0.85741	2.496000|2.496000	0.84212|0.84212	0.557000|0.557000	0.71058|0.71058	CGC|TCG	CPEB4	-	NULL		0.537	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	C	NM_030627		173317731	1	no_errors	ENST00000265085	ensembl	human	known	70_37	missense	SNP	1.000	T	T	173317731	C	T	173317731	3	4	147	1	0	0	0	0	1	0	0	0	3808	893	31	1	997	1	CPEB4	5	173317731	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1551841	173317731	7597529	391	23645										
DRD1	1812	genome.wustl.edu	37	chr5	174869677	174869677	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtccatgccacactgatcagGatgaaggctgccttgggggt	14	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:174869677G>A	ENST00000393752.2	-	2	1418	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	142					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CACTGATCAGGATGAAGGCTG	0.532																																																	0													128	132	131					5																	174869677		2203	4300	6503	SO:0001819	synonymous_variant	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.426C>T	5.37:g.174869677G>A			B2RA44|Q4QRJ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt	p.I142	ENST00000393752.2	37	c.426	CCDS4393.1	5																																																																																			DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	G	NM_000794		174869677	-1	no_errors	ENST00000329144	ensembl	human	known	70_37	silent	SNP	0.965	A	A	174869677	G	A	174869677	2	1	147	1	0	0	0	0	0	0	0	1	4766	1164	41	1		1	DRD1	5	174869677	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1551946	174869677	6045583	392	23646										
CDHR2	54825	genome.wustl.edu	37	chr5	176017146	176017146	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggacatagattctgcagctCggtgagtgcccagaggcctg	14	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:176017146C>T	ENST00000510636.1	+	25	3548	c.3274C>T	c.(3274-3276)Cgg>Tgg	p.R1092W	CDHR2_ENST00000506348.1_Splice_Site_p.R1092W|CDHR2_ENST00000261944.5_Splice_Site_p.R1092W	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1092					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TTCTGCAGCTCGGTGAGTGCC	0.587																																																	0													145	163	157					5																	176017146		2203	4300	6503	SO:0001630	splice_region_variant	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3275+1C>T	5.37:g.176017146C>T			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1092W	ENST00000510636.1	37	c.3274	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280018	0.40294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.58940	0.3;0.3;0.3	4.47	0.927	0.19437	.	.	.	.	.	T	0.71333	0.3327	M	0.76574	2.34	0.22266	N	0.999241	D	0.89917	1.0	D	0.81914	0.995	T	0.58482	-0.7629	9	0.87932	D	0	-24.521	8.1544	0.31160	0.4951:0.3901:0.1148:0.0	.	1092	Q9BYE9	CDHR2_HUMAN	W	1092	ENSP00000424565:R1092W;ENSP00000261944:R1092W;ENSP00000421078:R1092W	ENSP00000261944:R1092W	R	+	1	2	CDHR2	175949752	0.045000	0.20229	0.592000	0.28758	0.463000	0.32649	0.453000	0.21811	0.268000	0.21939	0.537000	0.68136	CGG	CDHR2	-	NULL		0.587	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675	Missense_Mutation	176017146	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.073	T	T	176017146	C	T	176017146	5	4	147	1	0	0	0	0	0	0	1	0	3124	898	31	1	3368	1	CDHR2	5	176017146	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1147469	176017146	4898114	393	23647										
GPRIN1	114787	genome.wustl.edu	37	chr5	176026585	176026585	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggctccctctggggccgtcaGagcaggaggccccttcccca	13	17	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:176026585G>C	ENST00000303991.4	-	2	428	c.251C>G	c.(250-252)tCt>tGt	p.S84C		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	84					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCCGTCAGAGCAGGAGGC	0.657																																																	0													32	37	36					5																	176026585		2203	4300	6503	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.251C>G	5.37:g.176026585G>C	ENSP00000305839:p.Ser84Cys		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.S84C	ENST00000303991.4	37	c.251	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280406	0.40294	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.16196	2.36	4.78	4.78	0.61160	.	0.410465	0.18160	N	0.149810	T	0.39809	0.1092	M	0.65975	2.015	0.29408	N	0.861471	D	0.89917	1.0	D	0.69479	0.964	T	0.21552	-1.0242	10	0.66056	D	0.02	-0.0375	15.3595	0.74460	0.0:0.0:1.0:0.0	.	84	Q7Z2K8	GRIN1_HUMAN	C	84	ENSP00000305839:S84C	ENSP00000305839:S84C	S	-	2	0	GPRIN1	175959191	0.995000	0.38212	0.863000	0.33907	0.095000	0.18619	2.405000	0.44548	2.475000	0.83589	0.563000	0.77884	TCT	GPRIN1	-	NULL		0.657	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	G	NM_052899		176026585	-1	no_errors	ENST00000303991	ensembl	human	known	70_37	missense	SNP	0.822	C	C	176026585	G	C	176026585	3	2	147	1	0	0	0	0	1	0	0	0	6749	942	33	1	2779	1	GPRIN1	5	176026585	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9439	176026585	4888675	394	23648										
ZNF354B	117608	genome.wustl.edu	37	chr5	178310916	178310916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cattcaacatcagagaatgcAtactggagaaagaccctata	7	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:178310916A>G	ENST00000322434.3	+	5	1689	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGAATGCATACTGGAGAA	0.388																																																	0													118	116	117					5																	178310916		2203	4300	6503	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1463A>G	5.37:g.178310916A>G	ENSP00000327143:p.His488Arg		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H488R	ENST00000322434.3	37	c.1463	CCDS4439.1	5	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930260	0.52866	.	.	ENSG00000178338	ENST00000322434	T	0.67523	-0.27	3.68	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69024	0.3065	M	0.91920	3.255	0.33202	D	0.552311	B	0.31274	0.317	B	0.28465	0.09	T	0.73883	-0.3842	9	0.87932	D	0	-6.4503	6.9426	0.24500	0.8855:0.0:0.1145:0.0	.	488	Q96LW1	Z354B_HUMAN	R	488	ENSP00000327143:H488R	ENSP00000327143:H488R	H	+	2	0	ZNF354B	178243522	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	6.460000	0.73518	0.498000	0.27948	0.454000	0.30748	CAT	ZNF354B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354B	HGNC	protein_coding	OTTHUMT00000253482.1	A	NM_058230		178310916	1	no_errors	ENST00000322434	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178310916	A	G	178310916	3	3	147	1	0	0	0	0	1	0	0	0	17895	217	8	5	1477	5	ZNF354B	5	178310916	Missense_Mutation	SNP	A	TCGA-IR-A3LA-01A-11D-A22X-09	2284331	178310916	2604344	395	23649										
SERPINB9	5272	genome.wustl.edu	37	chr6	2900832	2900832	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaaagtaccacttgcattaGaaagagtttccatgatgcag	8	8	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:2900832G>C	ENST00000380698.4	-	2	103	c.14C>G	c.(13-15)tCt>tGt	p.S5C		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	5					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ACTTGCATTAGAAAGAGTTTC	0.443																																																	0													175	171	172					6																	2900832		2203	4300	6503	SO:0001583	missense	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.14C>G	6.37:g.2900832G>C	ENSP00000370074:p.Ser5Cys		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.S5C	ENST00000380698.4	37	c.14	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353947	0.24512	.	.	ENSG00000170542	ENST00000380698	D	0.83837	-1.77	5.37	1.12	0.20585	Serpin domain (1);	0.581714	0.19492	N	0.112963	T	0.65984	0.2744	M	0.65320	2	0.09310	N	0.999999	B	0.32731	0.382	B	0.32864	0.154	T	0.58831	-0.7567	10	0.41790	T	0.15	.	10.9609	0.47385	0.0:0.5192:0.2594:0.2214	.	5	P50453	SPB9_HUMAN	C	5	ENSP00000370074:S5C	ENSP00000370074:S5C	S	-	2	0	SERPINB9	2845831	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.458000	0.21892	0.284000	0.22305	0.655000	0.94253	TCT	SERPINB9	-	superfamily_Serpin_dom		0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	G			2900832	-1	no_errors	ENST00000380698	ensembl	human	known	70_37	missense	SNP	0.000	C	C	2900832	G	C	2900832	3	2	147	1	0	0	0	0	1	0	0	0	14138	942	33	1	1140	1	SERPINB9	6	2900832	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		2900832	168214235	396	23650										
ELOVL2	54898	genome.wustl.edu	37	chr6	10995297	10995297	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatgttaaacatagaagcatGatgatatacatgaagaaaag	9	3	0	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:10995297G>C	ENST00000354666.3	-	5	531	c.448C>G	c.(448-450)Cat>Gat	p.H150D		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	150					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATAGAAGCATGATGATATACA	0.358																																																	0													162	155	158					6																	10995297		2203	4300	6503	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.448C>G	6.37:g.10995297G>C	ENSP00000346693:p.His150Asp		Q6P9E1|Q86W94	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.H150D	ENST00000354666.3	37	c.448	CCDS4518.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787883	0.90367	.	.	ENSG00000197977	ENST00000354666	T	0.51325	0.71	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89813	0.3983	10	0.87932	D	0	-1.7042	19.9598	0.97242	0.0:0.0:1.0:0.0	.	150	Q9NXB9	ELOV2_HUMAN	D	150	ENSP00000346693:H150D	ENSP00000346693:H150D	H	-	1	0	ELOVL2	11103283	1.000000	0.71417	0.785000	0.31869	0.993000	0.82548	9.640000	0.98453	2.716000	0.92895	0.655000	0.94253	CAT	ELOVL2	-	pfam_GNS1_SUR4		0.358	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	HGNC	protein_coding	OTTHUMT00000039849.1	G			10995297	-1	no_errors	ENST00000354666	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10995297	G	C	10995297	3	2	147	1	0	0	0	0	1	0	0	0	5086	1290	45	1	458	1	ELOVL2	6	10995297	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8094465	10995297	160119770	397	23651										
KIF13A	63971	genome.wustl.edu	37	chr6	17826009	17826009	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agggtcttaccattactattCagggttttcatgataacttc	7	8	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:17826009C>T	ENST00000259711.6	-	16	1881	c.1776G>A	c.(1774-1776)ctG>ctA	p.L592L	KIF13A_ENST00000378814.5_Silent_p.L592L|KIF13A_ENST00000378826.2_Silent_p.L592L|KIF13A_ENST00000378843.2_Silent_p.L592L|KIF13A_ENST00000378816.5_Silent_p.L592L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	592					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATTACTATTCAGGGTTTTCA	0.498																																																	0													94	94	94					6																	17826009		1946	4138	6084	SO:0001819	synonymous_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1776G>A	6.37:g.17826009C>T			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L592	ENST00000259711.6	37	c.1776	CCDS47381.1	6																																																																																			KIF13A	-	NULL		0.498	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	C			17826009	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	silent	SNP	0.998	T	T	17826009	C	T	17826009	2	4	147	1	0	0	0	0	0	0	0	1	8294	813	29	1		1	KIF13A	6	17826009	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6830712	17826009	153289058	398	23652										
KIF13A	63971	genome.wustl.edu	37	chr6	17837725	17837725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taagcagccaagtgaggactGaatctcgataaggcacaaat	10	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:17837725G>A	ENST00000259711.6	-	10	1025	c.920C>T	c.(919-921)tCa>tTa	p.S307L	KIF13A_ENST00000378814.5_Missense_Mutation_p.S307L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S307L|KIF13A_ENST00000378843.2_Missense_Mutation_p.S307L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S307L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	307	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGTGAGGACTGAATCTCGATA	0.428																																																	0													100	90	93					6																	17837725		1909	4112	6021	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.920C>T	6.37:g.17837725G>A	ENSP00000259711:p.Ser307Leu		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S307L	ENST00000259711.6	37	c.920	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.524798	0.96431	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.64	5.64	0.86602	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	D	0.96552	0.8875	H	0.98682	4.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97551	1.0092	10	0.87932	D	0	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	307;307;307;307	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	L	307	ENSP00000368091:S307L;ENSP00000259711:S307L;ENSP00000368103:S307L;ENSP00000368120:S307L;ENSP00000368093:S307L	ENSP00000259711:S307L	S	-	2	0	KIF13A	17945704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.812000	0.96745	0.557000	0.71058	TCA	KIF13A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.428	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17837725	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17837725	G	A	17837725	3	1	147	1	0	0	0	0	1	0	0	0	8294	1294	45	1	4642	1	KIF13A	6	17837725	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	11716	17837725	153277342	399	23653										
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056270	26056270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttggctgccccaactggcttCttaggtttggttccgcccgc	11	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26056270C>G	ENST00000343677.2	-	1	429	c.387G>C	c.(385-387)aaG>aaC	p.K129N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	129					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CAACTGGCTTCTTAGGTTTGG	0.577																																																	0													58	69	65					6																	26056270		2199	4297	6496	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.387G>C	6.37:g.26056270C>G	ENSP00000339566:p.Lys129Asn		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K129N	ENST00000343677.2	37	c.387	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181103	0.38511	.	.	ENSG00000187837	ENST00000343677	T	0.24538	1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	P	0.52577	0.954	B	0.44044	0.439	T	0.06481	-1.0824	10	0.72032	D	0.01	-6.1029	18.8173	0.92081	0.0:1.0:0.0:0.0	.	129	P16403	H12_HUMAN	N	129	ENSP00000339566:K129N	ENSP00000339566:K129N	K	-	3	2	HIST1H1C	26164249	1.000000	0.71417	0.987000	0.45799	0.098000	0.18820	2.587000	0.46128	2.763000	0.94921	0.655000	0.94253	AAG	HIST1H1C	-	prints_Histone_H5		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	C	NM_005319		26056270	-1	no_errors	ENST00000343677	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26056270	C	G	26056270	3	3	147	1	0	0	0	0	1	0	0	0	7144	912	32	1	258	1	HIST1H1C	6	26056270	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8218545	26056270	145058797	400	23654										
HIST1H2BC	8347	genome.wustl.edu	37	chr6	26123904	26123904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgcgccaggcgggaagcctCgcccgcgatgcgctcaaata	13	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26123904C>T	ENST00000314332.5	-	1	234	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E77K|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CGGGAAGCCTCGCCCGCGATG	0.587																																																	0													111	110	110					6																	26123904		2203	4300	6503	SO:0001583	missense	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.229G>A	6.37:g.26123904C>T	ENSP00000321744:p.Glu77Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000314332.5	37	c.229	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.464383	0.96257	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.34472	1.36;1.36	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.49830	0.1580	.	.	.	0.45066	D	0.998087	D	0.67145	0.996	P	0.58970	0.849	T	0.47611	-0.9104	8	0.54805	T	0.06	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	77	P62807	H2B1C_HUMAN	K	77	ENSP00000321744:E77K;ENSP00000380180:E77K	ENSP00000321744:E77K	E	-	1	0	HIST1H2BC	26231883	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.951000	0.70273	2.799000	0.96334	0.650000	0.86243	GAG	HIST1H2BC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.587	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	C	NM_003526		26123904	-1	no_errors	ENST00000314332	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26123904	C	T	26123904	3	4	147	1	0	0	0	0	1	0	0	0	7162	893	31	1	155	1	HIST1H2BC	6	26123904	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	67634	26123904	144991163	401	23655										
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156684	26156684	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagaagactcccgtgaagaaGaaggcccgcaagtctgcagg	14	10	1	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26156684G>A	ENST00000304218.3	+	1	126	c.66G>A	c.(64-66)aaG>aaA	p.K22K	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	22					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGTGAAGAAGAAGGCCCGCA	0.652																																																	0													36	45	42					6																	26156684		2170	4274	6444	SO:0001819	synonymous_variant	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.66G>A	6.37:g.26156684G>A			Q4VB25	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K22	ENST00000304218.3	37	c.66	CCDS4586.1	6																																																																																			HIST1H1E	-	NULL		0.652	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26156684	1	no_errors	ENST00000304218	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26156684	G	A	26156684	2	1	147	1	0	0	0	0	0	0	0	1	7146	933	33	1		1	HIST1H1E	6	26156684	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	32780	26156684	144958383	402	23656										
HIST1H2BK	85236	genome.wustl.edu	37	chr6	27114563	27114563	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgggcgcgggagcggacttCgctggttccggcatgttgaa	17	9	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:27114563C>A	ENST00000356950.1	-	1	14	c.15G>T	c.(13-15)gcG>gcT	p.A5A	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Silent_p.A5A			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	5					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGCGGACTTCGCTGGTTCCG	0.567																																																	0													56	56	56					6																	27114563		2203	4300	6503	SO:0001819	synonymous_variant	85236			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.15G>T	6.37:g.27114563C>A			A8K7P7|Q2VPI7	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A5	ENST00000356950.1	37	c.15	CCDS4621.1	6																																																																																			HIST1H2BK	-	superfamily_Histone-fold		0.567	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	C	NM_080593		27114563	-1	no_errors	ENST00000356950	ensembl	human	known	70_37	silent	SNP	0.003	A	A	27114563	C	A	27114563	2	1	147	1	0	0	0	0	0	0	0	1	7170	871	31	3		3	HIST1H2BK	6	27114563	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	957879	27114563	144000504	403	23657										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834888	27834888	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctgcagccttcttggccttCttaggcgtggcccccgcggg	13	16	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:27834888C>T	ENST00000331442.3	-	1	471	c.420G>A	c.(418-420)aaG>aaA	p.K140K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	140					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCTTGGCCTTCTTAGGCGTGG	0.607																																																	0													92	108	102					6																	27834888		2202	4298	6500	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.420G>A	6.37:g.27834888C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K140	ENST00000331442.3	37	c.420	CCDS4635.1	6																																																																																			HIST1H1B	-	NULL		0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834888	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27834888	C	T	27834888	2	4	147	1	0	0	0	0	0	0	0	1	7143	912	32	1		1	HIST1H1B	6	27834888	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	720325	27834888	143280179	404	23658										
CCHCR1	54535	genome.wustl.edu	37	chr6	31125293	31125293	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggcctgagggaagcccatCcagacaccagcaggccatga	12	13	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31125293C>T	ENST00000376266.5	-	2	72				CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.D29N|TCF19_ENST00000376255.4_5'Flank|CCHCR1_ENST00000480060.1_Intron|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396268.3_Missense_Mutation_p.D29N	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGAAGCCCATCCAGACACCAG	0.602																																																	0													56	65	62					6																	31125293		1320	2590	3910	SO:0001627	intron_variant	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.51-427G>A	6.37:g.31125293C>T			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.D29N	ENST00000376266.5	37	c.85	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807594	0.50421	.	.	ENSG00000204536	ENST00000396268;ENST00000451521;ENST00000426967	T;T;T	0.32515	3.57;3.07;1.45	5.61	3.84	0.44239	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.24853	N	0.9924	B;B	0.19583	0.022;0.037	B;B	0.15052	0.005;0.012	T	0.32929	-0.9888	9	0.87932	D	0	.	8.613	0.33815	0.0:0.8247:0.0:0.1753	.	29;29	E9PE84;Q8TD31-2	.;.	N	29	ENSP00000379566:D29N;ENSP00000401039:D29N;ENSP00000402432:D29N	ENSP00000379566:D29N	D	-	1	0	CCHCR1	31233272	0.978000	0.34361	0.997000	0.53966	0.254000	0.26022	0.864000	0.27926	0.730000	0.32425	0.643000	0.83706	GAT	CCHCR1	-	NULL		0.602	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	C	NM_019052		31125293	-1	no_errors	ENST00000396268	ensembl	human	known	70_37	missense	SNP	0.903	T	T	31125293	C	T	31125293	1	4	147	0	1	0	0	0	0	0	0	0	2882	855	30	1		1	CCHCR1	6	31125293	Intron	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3290405	31125293	139989774	405	23659										
BAT2	7916	genome.wustl.edu	37	chr6	31600440	31600440	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcatcagagagcagtgacttCaccagtgagcgccgagggga	15	10	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31600440C>T	ENST00000376033.2	+	16	4224	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	PRRC2A_ENST00000376007.4_Silent_p.F1330F	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1330	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAGTGACTTCACCAGTGAGC	0.602																																																	0													73	76	75					6																	31600440		1509	2709	4218	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3990C>T	6.37:g.31600440C>T			B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	pfam_BAT2_N	p.F1330	ENST00000376033.2	37	c.3990	CCDS4708.1	6																																																																																			PRRC2A	-	NULL		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	C	NM_080686		31600440	1	no_errors	ENST00000376007	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31600440	C	T	31600440	2	4	147	1	0	0	0	0	0	0	0	1	1320	825	29	1		1	BAT2	6	31600440	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	475147	31600440	139514627	406	23660										
SKIV2L	6499	genome.wustl.edu	37	chr6	31929372	31929372	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggccccagagcctccatctCaggagcagtgggccatccct	11	16	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31929372C>G	ENST00000375394.2	+	9	951	c.838C>G	c.(838-840)Cag>Gag	p.Q280E	NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q87E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	280					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCTCCATCTCAGGAGCAGTG	0.572																																																	0													99	103	102					6																	31929372		1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.838C>G	6.37:g.31929372C>G	ENSP00000364543:p.Gln280Glu		O15005|Q12902|Q15476|Q5ST66	Nonsense_Mutation	SNP	NULL	p.S216*	ENST00000375394.2	37	c.647	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228034	0.79576	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.44482	1.04;0.92	4.76	3.88	0.44766	.	0.406259	0.25698	N	0.028889	T	0.08582	0.0213	N	0.19112	0.55	0.30591	N	0.761546	B	0.06786	0.001	B	0.04013	0.001	T	0.21552	-1.0242	10	0.06625	T	0.88	-21.584	7.7203	0.28729	0.1662:0.7444:0.0:0.0894	.	280	Q15477	SKIV2_HUMAN	E	280;122;87	ENSP00000364543:Q280E;ENSP00000442645:Q87E	ENSP00000364543:Q280E	Q	+	1	0	SKIV2L	32037351	0.560000	0.26570	1.000000	0.80357	0.620000	0.37586	0.762000	0.26503	2.638000	0.89438	0.655000	0.94253	CAG	SKIV2L	-	NULL		0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	C			31929372	1	no_errors	ENST00000461073	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	31929372	C	G	31929372	3	3	147	1	0	0	0	0	1	0	0	0	14389	827	29	1	872	1	SKIV2L	6	31929372	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	328932	31929372	139185695	407	23661										
PPT2	9374	genome.wustl.edu	37	chr6	32122483	32122483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccaccgcgcgtcctacaagCcggtcatcgtggtgcatggg	13	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:32122483C>T	ENST00000324816.6	+	2	680	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	PRRT1_ENST00000211413.5_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.P38S|PPT2_ENST00000445576.2_Missense_Mutation_p.P38S|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000375143.2_Missense_Mutation_p.P38S|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.P38S|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.P44S|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.P38S			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	38					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTCCTACAAGCCGGTCATCGT	0.672																																																	0													57	62	60					6																	32122483		1509	2707	4216	SO:0001583	missense	9374			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.112C>T	6.37:g.32122483C>T	ENSP00000320528:p.Pro38Ser		A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.P44S	ENST00000324816.6	37	c.130	CCDS4742.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.255347	0.95336	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118;ENST00000453656	D;D;D;D;D;D;D;D;T	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;0.28	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.981;0.985;0.989	D	0.99474	1.0946	10	0.72032	D	0.01	-2.2787	15.0206	0.71627	0.0:1.0:0.0:0.0	.	38;38;44	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	S	38;44;38;38;38;38;38;38;38;38	ENSP00000398847:P38S;ENSP00000354608:P44S;ENSP00000378894:P38S;ENSP00000412381:P38S;ENSP00000320528:P38S;ENSP00000364279:P38S;ENSP00000364285:P38S;ENSP00000409877:P38S;ENSP00000395456:P38S	ENSP00000320528:P38S	P	+	1	0	PPT2	32230461	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.321000	0.72881	2.384000	0.81235	0.484000	0.47621	CCG	PPT2	-	pfam_Palm_thioest		0.672	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT2	HGNC	protein_coding	OTTHUMT00000076552.4	C	NM_138717		32122483	1	no_errors	ENST00000361568	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32122483	C	T	32122483	3	4	147	1	0	0	0	0	1	0	0	0	12439	739	26	4	136	4	PPT2	6	32122483	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	193111	32122483	138992584	408	23662										
VPS52	6293	genome.wustl.edu	37	chr6	33218669	33218669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accataaggtggtgaatgttGatgagctcagcccgggcagg	15	8	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:33218669G>C	ENST00000445902.2	-	20	2339	c.2121C>G	c.(2119-2121)atC>atG	p.I707M	HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000436044.2_Missense_Mutation_p.I582M|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000442228.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	707					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGAATGTTGATGAGCTCAG	0.592																																																	0													108	96	100					6																	33218669		1511	2709	4220	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.2121C>G	6.37:g.33218669G>C	ENSP00000409952:p.Ile707Met		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.I707M	ENST00000445902.2	37	c.2121	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854857	0.71719	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.71581	2.175	0.51012	D	0.999905	D;D	0.63046	0.982;0.992	P;P	0.59357	0.856;0.812	T	0.66200	-0.5983	9	0.59425	D	0.04	-19.0106	11.2767	0.49172	0.0:0.0:0.817:0.183	.	518;707	B3KMF7;Q8N1B4	.;VPS52_HUMAN	M	707;685;582	.	ENSP00000414785:I685M	I	-	3	3	VPS52	33326647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.081000	0.64444	2.612000	0.88384	0.551000	0.68910	ATC	VPS52	-	NULL		0.592	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33218669	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33218669	G	C	33218669	3	2	147	1	0	0	0	0	1	0	0	0	17245	1280	45	1	54	1	VPS52	6	33218669	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1096186	33218669	137896398	409	23663										
VPS52	6293	genome.wustl.edu	37	chr6	33239391	33239391	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctcttcctcctccatatctGaggtcccagcccgcaacacc	5	20	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:33239391G>C	ENST00000445902.2	-	1	280	c.62C>G	c.(61-63)tCa>tGa	p.S21*	VPS52_ENST00000436044.2_Intron|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_Nonsense_Mutation_p.S21*|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	21					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTCCATATCTGAGGTCCCAGC	0.647																																																	0													23	24	24					6																	33239391		2201	4299	6500	SO:0001587	stop_gained	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.62C>G	6.37:g.33239391G>C	ENSP00000409952:p.Ser21*		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.S21*	ENST00000445902.2	37	c.62	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	G	38	6.984777	0.97983	.	.	ENSG00000223501	ENST00000482399;ENST00000445902	.	.	.	5.53	4.67	0.58626	.	0.515509	0.17694	N	0.165177	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.164	10.13	0.42674	0.0892:0.0:0.9108:0.0	.	.	.	.	X	21	.	ENSP00000409952:S21X	S	-	2	0	VPS52	33347369	0.990000	0.36364	0.778000	0.31720	0.868000	0.49771	2.770000	0.47662	1.586000	0.49944	0.643000	0.83706	TCA	VPS52	-	NULL		0.647	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33239391	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	nonsense	SNP	0.984	C	C	33239391	G	C	33239391	4	2	147	1	0	0	0	0	0	1	0	0	17245	1294	45	1	2189	1	VPS52	6	33239391	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	20722	33239391	137875676	410	23664										
PIM1	5292	genome.wustl.edu	37	chr6	37138618	37138618	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggcagcggcggcttcggctCggtctactcaggcatccgcg	16	14	2	0	rs551680157		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:37138618C>G	ENST00000373509.5	+	2	525	c.152C>G	c.(151-153)tCg>tGg	p.S51W		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	142					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGCTTCGGCTCGGTCTACTCA	0.711			T	BCL6	NHL																																			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0													19	29	25					6																	37138618		2176	4273	6449	SO:0001583	missense	5292				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.152C>G	6.37:g.37138618C>G	ENSP00000362608:p.Ser51Trp		Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S51W	ENST00000373509.5	37	c.152	CCDS4830.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163599	0.78226	.	.	ENSG00000137193	ENST00000373509	T	0.67865	-0.29	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084828	0.48286	D	0.000184	T	0.76248	0.3961	M	0.73430	2.235	0.54753	D	0.999982	D	0.76494	0.999	D	0.71414	0.973	T	0.80011	-0.1561	10	0.87932	D	0	.	14.3137	0.66434	0.0:0.8506:0.1494:0.0	.	142	P11309	PIM1_HUMAN	W	51	ENSP00000362608:S51W	ENSP00000362608:S51W	S	+	2	0	PIM1	37246596	0.110000	0.22057	0.945000	0.38365	0.997000	0.91878	3.576000	0.53878	2.294000	0.77228	0.549000	0.68633	TCG	PIM1	-	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		0.711	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM1	HGNC	protein_coding	OTTHUMT00000043903.1	C			37138618	1	no_errors	ENST00000373509	ensembl	human	known	70_37	missense	SNP	0.996	G	G	37138618	C	G	37138618	3	3	147	1	0	0	0	0	1	0	0	0	11951	893	31	1	158	1	PIM1	6	37138618	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3899227	37138618	133976449	411	23665										
KIF6	221458	genome.wustl.edu	37	chr6	39398872	39398872	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcatcgatggtaacgctgtCagcgtggtccctcttgaaga	12	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:39398872C>T	ENST00000287152.7	-	14	1805	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	KIF6_ENST00000373215.3_Missense_Mutation_p.D571N|KIF6_ENST00000373213.4_Missense_Mutation_p.D410N|KIF6_ENST00000394362.1_Missense_Mutation_p.D22N|KIF6_ENST00000229913.5_Missense_Mutation_p.D22N|KIF6_ENST00000538893.1_Missense_Mutation_p.D515N|KIF6_ENST00000541946.1_Missense_Mutation_p.D22N|KIF6_ENST00000373216.3_Missense_Mutation_p.D571N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	571				CQEAFEIFKRDHADSVTIDDNKQILKQ -> NATILSSLTG PGLQHFGEKIQFAPQEN (in Ref. 4; CAD89950). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTAACGCTGTCAGCGTGGTCC	0.507																																																	0													144	119	127					6																	39398872		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1711G>A	6.37:g.39398872C>T	ENSP00000287152:p.Asp571Asn		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D571N	ENST00000287152.7	37	c.1711	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308738	0.81247	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T;T	0.70869	1.01;1.01;1.01;1.01;1.01;-0.52;1.01;1.01	5.84	5.84	0.93424	.	.	.	.	.	T	0.71762	0.3378	L	0.39020	1.185	0.46521	D	0.999085	D;B;B;D	0.89917	1.0;0.291;0.1;1.0	D;B;B;D	0.87578	0.998;0.058;0.023;0.996	T	0.64939	-0.6289	9	0.18276	T	0.48	.	18.9248	0.92540	0.0:1.0:0.0:0.0	.	571;515;571;571	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	N	571;22;571;410;22;571;515;22;22	ENSP00000287152:D571N;ENSP00000377889:D22N;ENSP00000362312:D571N;ENSP00000362309:D410N;ENSP00000229913:D22N;ENSP00000362311:D571N;ENSP00000441435:D515N;ENSP00000439064:D22N	ENSP00000229913:D22N	D	-	1	0	KIF6	39506850	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.405000	0.66351	2.758000	0.94735	0.655000	0.94253	GAC	KIF6	-	NULL		0.507	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	C	NM_145027		39398872	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39398872	C	T	39398872	3	4	147	1	0	0	0	0	1	0	0	0	8328	826	29	1	773	1	KIF6	6	39398872	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2260254	39398872	131716195	412	23666										
RPL7L1	285855	genome.wustl.edu	37	chr6	42852380	42852380	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgtgagtttactggtgcagaGaaccattgcaagacttcgcc	11	10	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:42852380G>T	ENST00000493763.1	+	4	617	c.314G>T	c.(313-315)aGa>aTa	p.R105I	RPL7L1_ENST00000602561.1_Missense_Mutation_p.R105I|RPL7L1_ENST00000424341.2_Missense_Mutation_p.R105I|RPL7L1_ENST00000304734.5_Missense_Mutation_p.R105I|RPL7L1_ENST00000397415.3_3'UTR	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	105						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			CTGGTGCAGAGAACCATTGCA	0.443																																																	0													109	107	108					6																	42852380		2203	4300	6503	SO:0001583	missense	285855				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"L ribosomal proteins"	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.314G>T	6.37:g.42852380G>T	ENSP00000418221:p.Arg105Ile		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.R105I	ENST00000493763.1	37	c.314	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649840	0.67358	.	.	ENSG00000146223	ENST00000493763;ENST00000304734;ENST00000424341	.	.	.	5.24	-1.83	0.07833	Ribosomal protein L30, ferredoxin-like fold domain (3);	0.401030	0.28901	N	0.013775	T	0.43656	0.1257	M	0.72479	2.2	0.20873	N	0.999839	D;P	0.53462	0.96;0.724	P;P	0.58721	0.844;0.682	T	0.50013	-0.8877	9	0.87932	D	0	.	10.7672	0.46301	0.7757:0.0:0.2243:0.0	.	105;105	B7Z652;Q6DKI1	.;RL7L_HUMAN	I	105	.	ENSP00000346063:R105I	R	+	2	0	RPL7L1	42960358	0.001000	0.12720	0.023000	0.16930	0.830000	0.47004	0.212000	0.17497	-0.208000	0.10171	-0.218000	0.12543	AGA	RPL7L1	-	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.443	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	G	XM_209769		42852380	1	no_errors	ENST00000304734	ensembl	human	known	70_37	missense	SNP	0.184	T	T	42852380	G	T	42852380	3	4	147	1	0	0	0	0	1	0	0	0	13631	942	33	3	328	3	RPL7L1	6	42852380	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3453508	42852380	128262687	413	23667										
TTBK1	84630	genome.wustl.edu	37	chr6	43230657	43230657	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggacgtgtcagcctctgtgGagcaggaggccctgagcaac	15	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43230657G>C	ENST00000259750.4	+	13	1638	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.E468Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	519					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCTCTGTGGAGCAGGAGGC	0.642																																																	0													73	57	63					6																	43230657		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1555G>C	6.37:g.43230657G>C	ENSP00000259750:p.Glu519Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.E519Q	ENST00000259750.4	37	c.1555	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036260	0.75617	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.55052	0.54	5.32	5.32	0.75619	.	0.055878	0.64402	D	0.000001	T	0.37100	0.0991	N	0.08118	0	0.48762	D	0.999704	D;P	0.54207	0.965;0.534	P;B	0.55871	0.786;0.107	T	0.45264	-0.9273	10	0.44086	T	0.13	.	15.9	0.79365	0.0:0.0:1.0:0.0	.	42;519	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	Q	468;519;468	ENSP00000259750:E519Q	ENSP00000259750:E519Q	E	+	1	0	TTBK1	43338635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.479000	0.97929	2.497000	0.84241	0.430000	0.28490	GAG	TTBK1	-	NULL		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43230657	1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43230657	G	C	43230657	3	2	147	1	0	0	0	0	1	0	0	0	16707	1175	41	1	1601	1	TTBK1	6	43230657	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	378277	43230657	127884410	414	23668										
ZNF318	24149	genome.wustl.edu	37	chr6	43322647	43322647	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacagggtggtttgacggttGagaggtgggatacatgggcc	18	5	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43322647G>C	ENST00000361428.2	-	4	2502	c.2425C>G	c.(2425-2427)Caa>Gaa	p.Q809E	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q809E	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	809					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTTGACGGTTGAGAGGTGGGA	0.527																																																	0													308	262	278					6																	43322647		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2425C>G	6.37:g.43322647G>C	ENSP00000354964:p.Gln809Glu		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.Q809E	ENST00000361428.2	37	c.2425	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953410	0.53293	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.37235	1.21;2.27	5.98	5.09	0.68999	.	0.126578	0.56097	D	0.000039	T	0.35624	0.0938	L	0.27053	0.805	0.32413	N	0.550425	D	0.61697	0.99	D	0.72982	0.979	T	0.40590	-0.9555	10	0.56958	D	0.05	-6.5922	16.351	0.83208	0.0:0.0:0.867:0.133	.	809	Q5VUA4	ZN318_HUMAN	E	809	ENSP00000323032:Q809E;ENSP00000354964:Q809E	ENSP00000323032:Q809E	Q	-	1	0	ZNF318	43430625	1.000000	0.71417	0.985000	0.45067	0.695000	0.40330	5.131000	0.64751	1.472000	0.48140	0.655000	0.94253	CAA	ZNF318	-	NULL		0.527	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	G	NM_014345		43322647	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	0.999	C	C	43322647	G	C	43322647	3	2	147	1	0	0	0	0	1	0	0	0	17866	1299	45	1	4442	1	ZNF318	6	43322647	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	91990	43322647	127792420	415	23669										
MAD2L1BP	9587	genome.wustl.edu	37	chr6	43608105	43608105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atggcacagggacaccgcaaCtgtggagaagattggtttcg	14	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43608105C>T	ENST00000372171.4	+	3	717	c.660C>T	c.(658-660)aaC>aaT	p.N220N	MAD2L1BP_ENST00000451025.2_Silent_p.N252N	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	220					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACACCGCAACTGTGGAGAAG	0.567																																																	0													53	45	48					6																	43608105		2203	4300	6503	SO:0001819	synonymous_variant	9587			BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.660C>T	6.37:g.43608105C>T			B4DLV3|E9PAT7|Q6IBB1	Silent	SNP	pfam_MAD1/Cdc20-bound-Mad2-bd	p.N252	ENST00000372171.4	37	c.756	CCDS4904.1	6																																																																																			MAD2L1BP	-	pfam_MAD1/Cdc20-bound-Mad2-bd		0.567	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1BP	HGNC	protein_coding	OTTHUMT00000040692.2	C	NM_014628		43608105	1	no_errors	ENST00000451025	ensembl	human	known	70_37	silent	SNP	0.993	T	T	43608105	C	T	43608105	2	4	147	1	0	0	0	0	0	0	0	1	9172	564	20	4		4	MAD2L1BP	6	43608105	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	285458	43608105	127506962	416	23670										
VEGFA	7422	genome.wustl.edu	37	chr6	43745289	43745289	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcttccaggagtaccctgatGagatcgagtacatcttcaag	9	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43745289G>A	ENST00000523873.1	+	3	240	c.202G>A	c.(202-204)Gag>Aag	p.E68K	VEGFA_ENST00000372077.4_Missense_Mutation_p.E68K|VEGFA_ENST00000324450.6_Missense_Mutation_p.E248K|VEGFA_ENST00000518824.1_Missense_Mutation_p.E68K|VEGFA_ENST00000413642.3_Missense_Mutation_p.E248K|VEGFA_ENST00000457104.2_Missense_Mutation_p.E68K|VEGFA_ENST00000417285.2_Missense_Mutation_p.E248K|VEGFA_ENST00000372067.3_Missense_Mutation_p.E248K|VEGFA_ENST00000425836.2_Missense_Mutation_p.E248K|VEGFA_ENST00000372064.4_Missense_Mutation_p.E248K|VEGFA_ENST00000523125.1_Missense_Mutation_p.E68K|VEGFA_ENST00000518689.1_Missense_Mutation_p.E68K|VEGFA_ENST00000372055.4_Missense_Mutation_p.E248K|VEGFA_ENST00000482630.2_Missense_Mutation_p.E248K|VEGFA_ENST00000523950.1_Missense_Mutation_p.E68K|VEGFA_ENST00000520948.1_Missense_Mutation_p.E68K|VEGFA_ENST00000230480.6_Missense_Mutation_p.E40K			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	68					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GTACCCTGATGAGATCGAGTA	0.562																																																	0													149	109	123					6																	43745289		2203	4300	6503	SO:0001583	missense	7422			AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.202G>A	6.37:g.43745289G>A	ENSP00000430479:p.Glu68Lys		B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E248K	ENST00000523873.1	37	c.742	CCDS55010.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047717	0.93740	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	5.06	5.06	0.68205	Platelet-derived growth factor (PDGF) (3);	0.209202	0.48767	D	0.000168	T	0.70988	0.3287	M	0.80028	2.48	0.58432	D	0.999999	P;B;P;B;P;B;B;P;P	0.49783	0.928;0.389;0.485;0.34;0.663;0.395;0.109;0.877;0.774	P;B;B;B;P;B;B;P;P	0.54026	0.614;0.295;0.395;0.171;0.45;0.21;0.219;0.585;0.74	T	0.75858	-0.3169	9	0.66056	D	0.02	-1.4969	17.7957	0.88570	0.0:0.0:1.0:0.0	.	68;248;68;248;68;248;248;68;68	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	K	248;248;248;248;248;248;248;248;68;68;68;68;68;68;68;68;40;42	.	ENSP00000230480:E40K	E	+	1	0	VEGFA	43853267	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	6.628000	0.74262	2.510000	0.84645	0.580000	0.79431	GAG	VEGFA	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.562	VEGFA-021	KNOWN	basic|CCDS	protein_coding	VEGFA	HGNC	protein_coding	OTTHUMT00000374460.1	G	NM_001025366		43745289	1	no_errors	ENST00000372055	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43745289	G	A	43745289	3	1	147	1	0	0	0	0	1	0	0	0	17181	1291	45	1	752	1	VEGFA	6	43745289	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	137184	43745289	127369778	417	23671										
C6orf223	221416	genome.wustl.edu	37	chr6	43970470	43970470	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggtgcagacgctggcccgGatgtcgcggaggactcgcgg	19	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43970470G>A	ENST00000336600.5	+	4	356	c.336G>A	c.(334-336)cgG>cgA	p.R112R	C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Silent_p.R92R|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	112										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGCTGGCCCGGATGTCGCGGA	0.726																																																	0													11	11	11					6																	43970470		2193	4287	6480	SO:0001819	synonymous_variant	221416			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.336G>A	6.37:g.43970470G>A			E9PB59|Q8N575	Silent	SNP	NULL	p.R112	ENST00000336600.5	37	c.336	CCDS34459.1	6																																																																																			C6orf223	-	NULL		0.726	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	HGNC	protein_coding	OTTHUMT00000040702.3	G	NM_153246		43970470	1	no_errors	ENST00000336600	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43970470	G	A	43970470	2	1	147	1	0	0	0	0	0	0	0	1	2362	1161	41	1		1	C6orf223	6	43970470	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	225181	43970470	127144597	418	23672										
CYP39A1	51302	genome.wustl.edu	37	chr6	46605600	46605600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggcaactgggacccatactCaaaatcttcatcataaactt	5	11	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:46605600C>G	ENST00000275016.2	-	4	807	c.604G>C	c.(604-606)Gag>Cag	p.E202Q		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	202					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACCCATACTCAAAATCTTCA	0.338																																																	0													105	105	105					6																	46605600		2203	4300	6503	SO:0001583	missense	51302			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.604G>C	6.37:g.46605600C>G	ENSP00000275016:p.Glu202Gln		Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E202Q	ENST00000275016.2	37	c.604	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531226	0.64972	.	.	ENSG00000146233	ENST00000275016	T	0.65549	-0.16	5.65	3.76	0.43208	.	0.122078	0.52532	D	0.000071	T	0.55433	0.1920	L	0.60455	1.87	0.43462	D	0.995662	D;D	0.59357	0.97;0.985	P;P	0.54346	0.749;0.749	T	0.55842	-0.8077	10	0.14252	T	0.57	-13.0069	14.9013	0.70681	0.0:0.73:0.27:0.0	.	182;202	B7Z786;Q9NYL5	.;CP39A_HUMAN	Q	202	ENSP00000275016:E202Q	ENSP00000275016:E202Q	E	-	1	0	CYP39A1	46713559	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	2.540000	0.45727	1.514000	0.48869	0.655000	0.94253	GAG	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.338	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	C			46605600	-1	no_errors	ENST00000275016	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46605600	C	G	46605600	3	3	147	1	0	0	0	0	1	0	0	0	4182	835	29	1	841	1	CYP39A1	6	46605600	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2635130	46605600	124509467	419	23673										
GPR110	266977	genome.wustl.edu	37	chr6	46967979	46967979	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttattcatttgagacaaactGagttagcatgatgttgtcgg	10	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:46967979G>A	ENST00000371253.2	-	15	2928	c.2713C>T	c.(2713-2715)Cag>Tag	p.Q905*	GPR110_ENST00000283297.5_Nonsense_Mutation_p.Q708*|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAGACAAACTGAGTTAGCATG	0.323																																																	0													94	94	94					6																	46967979		2203	4300	6503	SO:0001587	stop_gained	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2713C>T	6.37:g.46967979G>A	ENSP00000360299:p.Gln905*		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.Q905*	ENST00000371253.2	37	c.2713	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789574	0.50102	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	.	.	.	5.67	2.76	0.32466	.	0.591478	0.15313	N	0.268976	.	.	.	.	.	.	0.40196	D	0.977464	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	0.1103	5.9341	0.19154	0.0807:0.132:0.6517:0.1356	.	.	.	.	X	905;708	.	ENSP00000283297:Q708X	Q	-	1	0	GPR110	47075938	1.000000	0.71417	0.993000	0.49108	0.019000	0.09904	1.302000	0.33459	0.878000	0.35920	-0.797000	0.03246	CAG	GPR110	-	NULL		0.323	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	G	NM_153840		46967979	-1	no_errors	ENST00000371253	ensembl	human	known	70_37	nonsense	SNP	0.974	A	A	46967979	G	A	46967979	4	1	147	1	0	0	0	0	0	1	0	0	6646	1299	45	1	23	1	GPR110	6	46967979	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	362379	46967979	124147088	420	23674										
CD2AP	23607	genome.wustl.edu	37	chr6	47577036	47577036	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagaagcactgaaaaaggatCacgggtaagtagcccttctt	10	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:47577036C>G	ENST00000359314.5	+	16	2266	c.1810C>G	c.(1810-1812)Cac>Gac	p.H604D	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	604					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.H604Y(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GAAAAAGGATCACGGGTAAGT	0.363																																																	1	Substitution - Missense(1)	lung(1)											87	85	86					6																	47577036		2203	4300	6503	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1810C>G	6.37:g.47577036C>G	ENSP00000352264:p.His604Asp		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.H604D	ENST00000359314.5	37	c.1810	CCDS34472.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078680	0.76528	.	.	ENSG00000198087	ENST00000359314	T	0.28255	1.62	5.65	5.65	0.86999	.	0.257695	0.32175	N	0.006462	T	0.43765	0.1262	M	0.73962	2.25	0.46185	D	0.998914	D	0.63046	0.992	P	0.55871	0.786	T	0.38824	-0.9643	10	0.56958	D	0.05	-16.2893	18.2957	0.90145	0.0:1.0:0.0:0.0	.	604	Q9Y5K6	CD2AP_HUMAN	D	604	ENSP00000352264:H604D	ENSP00000352264:H604D	H	+	1	0	CD2AP	47684995	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.872000	0.63050	2.668000	0.90789	0.655000	0.94253	CAC	CD2AP	-	NULL		0.363	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	HGNC	protein_coding	OTTHUMT00000040817.2	C			47577036	1	no_errors	ENST00000359314	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47577036	C	G	47577036	3	3	147	1	0	0	0	0	1	0	0	0	2999	826	29	1	1872	1	CD2AP	6	47577036	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	609057	47577036	123538031	421	23675										
C6orf138	442213	genome.wustl.edu	37	chr6	47846660	47846660	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggaggggttgaacacgatGaatcggatgctctttgagag	15	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:47846660G>A	ENST00000339488.4	-	3	1953	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	640						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGAACACGATGAATCGGATGC	0.488																																																	0													185	175	178					6																	47846660		2203	4300	6503	SO:0001819	synonymous_variant	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1920C>T	6.37:g.47846660G>A			B0QZ29|B4DRK3|Q5T884	Silent	SNP	pfam_Patched,pfscan_SSD	p.F640	ENST00000339488.4	37	c.1920	CCDS34473.2	6																																																																																			PTCHD4	-	pfam_Patched		0.488	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	G	NM_001013732		47846660	-1	no_errors	ENST00000339488	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47846660	G	A	47846660	2	1	147	1	0	0	0	0	0	0	0	1	2337	1281	45	1		1	C6orf138	6	47846660	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	269624	47846660	123268407	422	23676										
DEFB114	245928	genome.wustl.edu	37	chr6	49928006	49928006	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagaggtatgcctttcttttCaaaacatatcatcttcttca	4	10	6	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:49928006C>G	ENST00000322066.3	-	2	208	c.209G>C	c.(208-210)tGa>tCa	p.*70S		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	0					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					CCTTTCTTTTCAAAACATATC	0.328																																																	0													83	77	79					6																	49928006		2203	4299	6502	SO:0001578	stop_lost	245928			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.209G>C	6.37:g.49928006C>G			Q8NES9	Nonstop_Mutation	SNP	NULL	p.*70S	ENST00000322066.3	37	c.209	CCDS34474.1	6	.	.	.	.	.	.	.	.	.	.	C	3.162	-0.171949	0.06421	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.55	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0897	0.09963	0.23:0.6469:0.0:0.1231	.	.	.	.	S	70	.	.	X	-	2	2	DEFB114	50035965	0.539000	0.26402	0.002000	0.10522	0.002000	0.02628	0.085000	0.14912	0.449000	0.26747	-0.145000	0.13849	TGA	DEFB114	-	NULL		0.328	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB114	HGNC	protein_coding	OTTHUMT00000359665.1	C	NM_001037499		49928006	-1	no_errors	ENST00000322066	ensembl	human	known	70_37	nonstop	SNP	0.018	G	G	49928006	C	G	49928006	4	3	147	1	0	0	0	0	0	0	0	0	4412	840	29	1	3	1	DEFB114	6	49928006	Nonstop_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2081346	49928006	121187061	423	23677										
KLHL31	401265	genome.wustl.edu	37	chr6	53519746	53519746	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcattgagatccaccctctGaattgacgggtcttttttta	7	9	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:53519746G>C	ENST00000407079.1	-	1	324	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	KLHL31_ENST00000370905.3_Missense_Mutation_p.Q109E			Q9H511	KLH31_HUMAN	kelch-like family member 31	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCCACCCTCTGAATTGACGGG	0.418																																																	0													114	111	112					6																	53519746		2203	4300	6503	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.325C>G	6.37:g.53519746G>C	ENSP00000384644:p.Gln109Glu		A6N9J2|B2RP49	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q109E	ENST00000407079.1	37	c.325	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	G	0.961	-0.703148	0.03255	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.66280	-0.2;-0.2	6.03	4.2	0.49525	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.157447	0.64402	D	0.000015	T	0.23410	0.0566	N	0.16266	0.395	0.35688	D	0.814626	B	0.23735	0.09	B	0.28385	0.089	T	0.14117	-1.0484	10	0.02654	T	1	.	15.2889	0.73852	0.0:0.0:0.7369:0.2631	.	109	Q9H511	KLH31_HUMAN	E	109	ENSP00000359942:Q109E;ENSP00000384644:Q109E	ENSP00000359942:Q109E	Q	-	1	0	KLHL31	53627705	1.000000	0.71417	0.432000	0.26747	0.960000	0.62799	5.518000	0.67068	0.818000	0.34468	0.555000	0.69702	CAG	KLHL31	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.418	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	G	NM_001003760		53519746	-1	no_errors	ENST00000370905	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53519746	G	C	53519746	3	2	147	1	0	0	0	0	1	0	0	0	8405	1299	45	1	1587	1	KLHL31	6	53519746	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3591740	53519746	117595321	424	23678										
DST	667	genome.wustl.edu	37	chr6	56324949	56324949	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagcaaactgtgttcggactCtggcagctgcagttgttatc	11	10	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:56324949C>G	ENST00000361203.3	-	97	22110	c.22103G>C	c.(22102-22104)aGa>aCa	p.R7368T	DST_ENST00000421834.2_Missense_Mutation_p.R5364T|DST_ENST00000370788.2_Missense_Mutation_p.R5282T|DST_ENST00000370769.4_Missense_Mutation_p.R7479T|DST_ENST00000446842.2_Missense_Mutation_p.R7153T|DST_ENST00000370754.5_Missense_Mutation_p.R7657T|DST_ENST00000244364.6_Missense_Mutation_p.R5078T|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7477					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCGGACTCTGGCAGCTGC	0.478																																																	0													73	79	77					6																	56324949		1972	4142	6114	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22103G>C	6.37:g.56324949C>G	ENSP00000354508:p.Arg7368Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R7657T	ENST00000361203.3	37	c.22970		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.289979|3.289979	0.59976|0.59976	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.64085	.|1.01;-0.07;-0.08;-0.04;0.87;-0.04;-0.03	6.17|6.17	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.57536|0.57536	1.79|1.79	.|.	.|.	.|.	.|P;D;D;P;B;P;B;B	.|0.65815	.|0.651;0.99;0.995;0.651;0.23;0.514;0.415;0.0	.|B;P;P;B;B;B;B;B	.|0.59115	.|0.15;0.795;0.852;0.15;0.098;0.197;0.2;0.002	T|T	0.62525|0.62525	-0.6836|-0.6836	4|9	.|0.29301	.|T	.|0.29	.|.	11.5429|11.5429	0.50677|0.50677	0.0:0.8646:0.0:0.1354|0.0:0.8646:0.0:0.1354	.|.	.|5364;7479;7657;7477;5078;165;165;5282	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	Q|T	166|5078;7657;7479;5364;7153;5282;7368	.|ENSP00000244364:R5078T;ENSP00000359790:R7657T;ENSP00000359805:R7479T;ENSP00000400883:R5364T;ENSP00000393645:R7153T;ENSP00000359824:R5282T;ENSP00000354508:R7368T	.|ENSP00000244364:R5078T	E|R	-|-	1|2	0|0	DST|DST	56432908|56432908	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	3.658000|3.658000	0.54482|0.54482	1.635000|1.635000	0.50512|0.50512	0.655000|0.655000	0.94253|0.94253	GAG|AGA	DST	-	NULL		0.478	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56324949	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.995	G	G	56324949	C	G	56324949	3	3	147	1	0	0	0	0	1	0	0	0	4793	913	32	1	290	1	DST	6	56324949	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2805203	56324949	114790118	425	23679										
BAI3	577	genome.wustl.edu	37	chr6	69653776	69653776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttatgttcatttacatgtgGtcgaggccaaagaacaagaa	9	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:69653776G>T	ENST00000370598.1	+	6	1906	c.1085G>T	c.(1084-1086)gGt>gTt	p.G362V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	362	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTACATGTGGTCGAGGCCAA	0.433																																																	0													253	199	218					6																	69653776		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1085G>T	6.37:g.69653776G>T	ENSP00000359630:p.Gly362Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G362V	ENST00000370598.1	37	c.1085	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927854	0.92389	.	.	ENSG00000135298	ENST00000370598	T	0.71341	-0.56	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91372	0.5120	10	0.66056	D	0.02	.	18.8322	0.92144	0.0:0.0:1.0:0.0	.	362	O60242	BAI3_HUMAN	V	362	ENSP00000359630:G362V	ENSP00000359630:G362V	G	+	2	0	BAI3	69710497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.673000	0.90976	0.650000	0.86243	GGT	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69653776	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69653776	G	T	69653776	3	4	147	1	0	0	0	0	1	0	0	0	1301	1261	44	4	1099	4	BAI3	6	69653776	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	13328827	69653776	101461291	426	23680										
BAI3	577	genome.wustl.edu	37	chr6	70040418	70040418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgctggctctctcttgaagGaggactactctatgcttttg	10	10	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:70040418G>A	ENST00000370598.1	+	23	3877	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	BAI3_ENST00000546190.1_5'Flank|BAI3_ENST00000238918.8_Missense_Mutation_p.G225E	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1019					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTCTTGAAGGAGGACTACTC	0.368																																																	0													113	102	106					6																	70040418		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3056G>A	6.37:g.70040418G>A	ENSP00000359630:p.Gly1019Glu		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1019E	ENST00000370598.1	37	c.3056	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.284409	0.95517	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.41400	1.0;1.0	6.17	6.17	0.99709	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.43701	1.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49312	-0.8953	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	225;1019;1019	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	E	1019;225	ENSP00000359630:G1019E;ENSP00000238918:G225E	ENSP00000238918:G225E	G	+	2	0	BAI3	70097139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70040418	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70040418	G	A	70040418	3	1	147	1	0	0	0	0	1	0	0	0	1301	1174	41	1	3138	1	BAI3	6	70040418	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	386642	70040418	101074649	427	23681										
MTO1	25821	genome.wustl.edu	37	chr6	74192328	74192328	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcttctataagtactagtaGaagtctgcctgtcaggtatg	11	7	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:74192328G>T	ENST00000370300.4	+	10	1787	c.1697G>T	c.(1696-1698)aGa>aTa	p.R566I	MTO1_ENST00000498286.1_Missense_Mutation_p.R541I|MTO1_ENST00000415954.2_Missense_Mutation_p.R581I|MTO1_ENST00000370305.1_Missense_Mutation_p.R492I	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	566					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGTACTAGTAGAAGTCTGCCT	0.313																																																	0													47	51	49					6																	74192328		2199	4299	6498	SO:0001583	missense	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1697G>T	6.37:g.74192328G>T	ENSP00000359323:p.Arg566Ile		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.R581I	ENST00000370300.4	37	c.1742	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851442	0.32699	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.37	-0.901	0.10540	.	0.337883	0.34046	N	0.004318	T	0.04679	0.0127	N	0.01809	-0.71	0.09310	N	0.999999	B;P;B;B	0.46220	0.017;0.874;0.004;0.005	B;P;B;B	0.45071	0.062;0.468;0.039;0.017	T	0.49643	-0.8918	9	0.21014	T	0.42	-4.7248	12.9	0.58121	0.3197:0.0:0.6803:0.0	.	581;444;541;566	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	I	581;541;444;492;566;96	.	ENSP00000350506:R444I	R	+	2	0	MTO1	74249049	0.375000	0.25089	0.028000	0.17463	0.962000	0.63368	0.604000	0.24164	-0.300000	0.08895	0.460000	0.39030	AGA	MTO1	-	NULL		0.313	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	G	NM_012123		74192328	1	no_errors	ENST00000415954	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74192328	G	T	74192328	3	4	147	1	0	0	0	0	1	0	0	0	9976	942	33	3	1859	3	MTO1	6	74192328	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4151910	74192328	96922739	428	23682										
CD109	135228	genome.wustl.edu	37	chr6	74477947	74477947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcctgttcagcttgtttttaAaaataaggtaagatttaagg	8	4	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:74477947A>G	ENST00000287097.5	+	14	1779	c.1667A>G	c.(1666-1668)aAa>aGa	p.K556R	CD109_ENST00000437994.2_Missense_Mutation_p.K556R|CD109_ENST00000422508.2_Missense_Mutation_p.K479R			Q6YHK3	CD109_HUMAN	CD109 molecule	556					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTGTTTTTAAAAATAAGGTA	0.269																																																	0													42	45	44					6																	74477947		2202	4297	6499	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1667A>G	6.37:g.74477947A>G	ENSP00000287097:p.Lys556Arg		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.K556R	ENST00000287097.5	37	c.1667	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247257	0.39697	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62941	-0.01;-0.01;-0.01	4.76	4.76	0.60689	Alpha-2-macroglobulin, N-terminal 2 (1);	0.583022	0.19479	N	0.113271	T	0.28599	0.0708	N	0.16602	0.42	0.27516	N	0.951534	B;B;B;B	0.23316	0.083;0.037;0.057;0.061	B;B;B;B	0.29942	0.017;0.008;0.109;0.026	T	0.10965	-1.0607	10	0.19590	T	0.45	.	13.6664	0.62398	1.0:0.0:0.0:0.0	.	479;556;556;556	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	R	556;479;556	ENSP00000388062:K556R;ENSP00000404475:K479R;ENSP00000287097:K556R	ENSP00000287097:K556R	K	+	2	0	CD109	74534668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.423000	0.59861	2.129000	0.65627	0.260000	0.18958	AAA	CD109	-	pfam_A2M_N_2		0.269	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	A	NM_133493		74477947	1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74477947	A	G	74477947	3	3	147	1	0	0	0	0	1	0	0	0	2968	14	1	5	1721	5	CD109	6	74477947	Missense_Mutation	SNP	A	TCGA-IR-A3LA-01A-11D-A22X-09	285619	74477947	96637120	429	23683										
DOPEY1	23033	genome.wustl.edu	37	chr6	83868325	83868325	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggagcaggaactcactgctGatgaagatatttcacggtaa	11	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:83868325G>A	ENST00000349129.2	+	36	7041	c.6781G>A	c.(6781-6783)Gat>Aat	p.D2261N	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D2252N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2261					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTCACTGCTGATGAAGATAT	0.284																																																	0													58	59	58					6																	83868325		2199	4283	6482	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6781G>A	6.37:g.83868325G>A	ENSP00000195654:p.Asp2261Asn		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.D2261N	ENST00000349129.2	37	c.6781	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.255649	0.95336	.	.	ENSG00000083097	ENST00000349129	T	0.45276	0.9	5.86	5.86	0.93980	.	0.048484	0.85682	D	0.000000	T	0.54663	0.1872	L	0.48642	1.525	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.77004	0.989;0.989;0.989	T	0.53599	-0.8416	10	0.87932	D	0	-22.4532	20.1735	0.98170	0.0:0.0:1.0:0.0	.	2152;2252;2261	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	N	2261	ENSP00000195654:D2261N	ENSP00000195654:D2261N	D	+	1	0	DOPEY1	83925044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.937000	0.99478	0.650000	0.86243	GAT	DOPEY1	-	NULL		0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83868325	1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83868325	G	A	83868325	3	1	147	1	0	0	0	0	1	0	0	0	4717	1290	45	1	6915	1	DOPEY1	6	83868325	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9390378	83868325	87246742	430	23684										
MDN1	23195	genome.wustl.edu	37	chr6	90383069	90383069	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aactagtgccatttgtgagtCtctttgctcaacctccatcc	6	13	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:90383069C>G	ENST00000369393.3	-	80	13475	c.13360G>C	c.(13360-13362)Gac>Cac	p.D4454H	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.D4454H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4454					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTTGTGAGTCTCTTTGCTCA	0.458																																																	0													104	97	100					6																	90383069		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13360G>C	6.37:g.90383069C>G	ENSP00000358400:p.Asp4454His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4454H	ENST00000369393.3	37	c.13360	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236868	0.39498	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03441	3.93;3.93	6.06	5.19	0.71726	.	0.326590	0.30999	N	0.008456	T	0.01800	0.0057	L	0.59436	1.845	0.09310	N	1	P	0.38642	0.641	B	0.32289	0.143	T	0.39292	-0.9621	10	0.41790	T	0.15	.	12.1833	0.54223	0.0:0.8639:0.0:0.1361	.	4454	Q9NU22	MDN1_HUMAN	H	4454	ENSP00000358400:D4454H;ENSP00000413970:D4454H	ENSP00000358400:D4454H	D	-	1	0	MDN1	90439790	0.100000	0.21855	0.294000	0.24946	0.897000	0.52465	1.136000	0.31467	1.576000	0.49790	0.655000	0.94253	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383069	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.028	G	G	90383069	C	G	90383069	3	3	147	1	0	0	0	0	1	0	0	0	9438	913	32	1	3522	1	MDN1	6	90383069	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6514744	90383069	80731998	431	23685										
MDN1	23195	genome.wustl.edu	37	chr6	90383842	90383842	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaagaatgaaagagagtctCacaagactgctgtctaattt	8	8	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:90383842C>G	ENST00000369393.3	-	79	13343	c.13228G>C	c.(13228-13230)Gag>Cag	p.E4410Q	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.E4410Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4410					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAGAGTCTCACAAGACTGC	0.413																																																	0													81	75	77					6																	90383842		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13228G>C	6.37:g.90383842C>G	ENSP00000358400:p.Glu4410Gln		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4410Q	ENST00000369393.3	37	c.13228	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150820	0.78001	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03745	3.82;3.82	6.17	6.17	0.99709	.	0.064380	0.64402	D	0.000010	T	0.10551	0.0258	L	0.56769	1.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.25293	-1.0136	10	0.25106	T	0.35	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4410	Q9NU22	MDN1_HUMAN	Q	4410	ENSP00000358400:E4410Q;ENSP00000413970:E4410Q	ENSP00000358400:E4410Q	E	-	1	0	MDN1	90440563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.760000	0.62235	2.941000	0.99782	0.655000	0.94253	GAG	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383842	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90383842	C	G	90383842	3	3	147	1	0	0	0	0	1	0	0	0	9438	835	29	1	3658	1	MDN1	6	90383842	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	773	90383842	80731225	432	23686										
SFRS18	25957	genome.wustl.edu	37	chr6	99854029	99854029	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacattttcagtgtcttcttCttcctcatcactatcctata	2	12	6	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:99854029C>T	ENST00000369239.5	-	8	1084	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PNISR_ENST00000438806.1_Missense_Mutation_p.E294K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	294						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTGTCTTCTTCTTCCTCATCA	0.388																																																	0													166	150	156					6																	99854029		2203	4300	6503	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.880G>A	6.37:g.99854029C>T	ENSP00000358242:p.Glu294Lys		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.E294K	ENST00000369239.5	37	c.880	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261558	0.80358	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.43294	0.95;0.95	5.67	5.67	0.87782	.	0.190563	0.56097	D	0.000027	T	0.17789	0.0427	L	0.29908	0.895	0.46981	D	0.999279	B	0.19817	0.039	B	0.16289	0.015	T	0.13361	-1.0512	10	0.07813	T	0.8	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	294	Q8TF01	PNISR_HUMAN	K	294	ENSP00000358242:E294K;ENSP00000387997:E294K	ENSP00000358242:E294K	E	-	1	0	PNISR	99960750	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.299000	0.59073	2.835000	0.97688	0.591000	0.81541	GAA	PNISR	-	NULL		0.388	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	C	NM_032870		99854029	-1	no_errors	ENST00000369239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99854029	C	T	99854029	3	4	147	1	0	0	0	0	1	0	0	0	14204	922	32	1	1557	1	SFRS18	6	99854029	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9470187	99854029	71261038	433	23687										
USP45	85015	genome.wustl.edu	37	chr6	99893792	99893792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtagagacaggactgaattGaacattctttagaagtagtt	11	4	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:99893792G>A	ENST00000327681.6	-	14	2388	c.1856C>T	c.(1855-1857)tCa>tTa	p.S619L	USP45_ENST00000392738.2_Missense_Mutation_p.S299L|USP45_ENST00000500704.2_Missense_Mutation_p.S619L|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.S571L	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	619	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGACTGAATTGAACATTCTTT	0.338																																																	0													54	58	57					6																	99893792		2202	4299	6501	SO:0001583	missense	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1856C>T	6.37:g.99893792G>A	ENSP00000333376:p.Ser619Leu		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S619L	ENST00000327681.6	37	c.1856	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010725	0.93346	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.35973	1.28;3.84;3.84;1.28	5.58	5.58	0.84498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67515	-0.5651	10	0.87932	D	0	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	619;299	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	L	299;619;619;571	ENSP00000376495:S299L;ENSP00000424372:S619L;ENSP00000333376:S619L;ENSP00000358236:S571L	ENSP00000333376:S619L	S	-	2	0	USP45	100000513	1.000000	0.71417	0.923000	0.36655	0.614000	0.37383	9.476000	0.97823	2.626000	0.88956	0.655000	0.94253	TCA	USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.338	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	G	NM_032929		99893792	-1	no_errors	ENST00000327681	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99893792	G	A	99893792	3	1	147	1	0	0	0	0	1	0	0	0	17107	1294	45	1	608	1	USP45	6	99893792	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	39763	99893792	71221275	434	23688										
AIM1	202	genome.wustl.edu	37	chr6	106968381	106968381	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtagtgatgatagtgtatttGattcttcttctgatatggaa	10	3	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:106968381G>A	ENST00000369066.3	+	2	2561	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGTGTATTTGATTCTTCTTC	0.418																																																	0													50	54	53					6																	106968381		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2074G>A	6.37:g.106968381G>A	ENSP00000358062:p.Asp692Asn		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D692N	ENST00000369066.3	37	c.2074	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799020	0.90538	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.82433	-1.61	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000010	D	0.89068	0.6610	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87899	0.2689	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	692	Q9Y4K1	AIM1_HUMAN	N	1100;692	ENSP00000358062:D692N	ENSP00000285105:D1100N	D	+	1	0	AIM1	107075074	1.000000	0.71417	0.972000	0.41901	0.782000	0.44232	7.649000	0.83500	2.941000	0.99782	0.655000	0.94253	GAT	AIM1	-	NULL		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106968381	1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.999	A	A	106968381	G	A	106968381	3	1	147	1	0	0	0	0	1	0	0	0	430	1290	45	1	2080	1	AIM1	6	106968381	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7074589	106968381	64146686	435	23689										
AIM1	202	genome.wustl.edu	37	chr6	106968393	106968393	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgtatttgattcttcttctGatatggaaaaattcactgaa	7	5	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:106968393G>A	ENST00000369066.3	+	2	2573	c.2086G>A	c.(2086-2088)Gat>Aat	p.D696N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTCTTCTTCTGATATGGAAAA	0.418																																																	0													51	56	54					6																	106968393		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2086G>A	6.37:g.106968393G>A	ENSP00000358062:p.Asp696Asn		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D696N	ENST00000369066.3	37	c.2086	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.167501	0.94768	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.82433	-1.61	6.17	6.17	0.99709	.	0.434279	0.21445	N	0.074422	D	0.89842	0.6832	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89140	0.3516	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	696	Q9Y4K1	AIM1_HUMAN	N	1104;696	ENSP00000358062:D696N	ENSP00000285105:D1104N	D	+	1	0	AIM1	107075086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.941000	0.99782	0.655000	0.94253	GAT	AIM1	-	NULL		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106968393	1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106968393	G	A	106968393	3	1	147	1	0	0	0	0	1	0	0	0	430	1290	45	1	2092	1	AIM1	6	106968393	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12	106968393	64146674	436	23690										
ZUFSP	221302	genome.wustl.edu	37	chr6	116988229	116988229	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcgatatgaaaacacatttCatcataattcacacctgaca	3	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:116988229C>A	ENST00000368576.3	-	2	370	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	ZUFSP_ENST00000368573.1_Nonsense_Mutation_p.E43*|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	43							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AAACACATTTCATCATAATTC	0.338																																																	0													128	121	123					6																	116988229		2202	4300	6502	SO:0001587	stop_gained	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.127G>T	6.37:g.116988229C>A	ENSP00000357565:p.Glu43*		Q5TD92|Q6PJH7|Q96NV6	Nonsense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E43*	ENST00000368576.3	37	c.127	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.381552	0.97520	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	.	.	.	6.07	6.07	0.98685	.	0.091660	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.0878	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000357562:E43X	E	-	1	0	ZUFSP	117094922	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	4.181000	0.58303	2.885000	0.99019	0.655000	0.94253	GAA	ZUFSP	-	smart_Znf_C2H2-like		0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	HGNC	protein_coding	OTTHUMT00000041961.1	C	NM_145062		116988229	-1	no_errors	ENST00000368576	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	116988229	C	A	116988229	4	1	147	1	0	0	0	0	0	1	0	0	18276	835	29	3	1645	3	ZUFSP	6	116988229	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10019836	116988229	54126838	437	23691										
ROS1	6098	genome.wustl.edu	37	chr6	117622176	117622176	+	Nonsense_Mutation	SNP	C	C	A													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gactccactgttgtttgcttCatctctggacttataaatgc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:117622176C>A	ENST00000368508.3	-	42	6892	c.6694G>T	c.(6694-6696)Gaa>Taa	p.E2232*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2226*|RN7SKP18_ENST00000516005.1_RNA|RN7SKP51_ENST00000410781.1_RNA	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2232					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGTTTGCTTCATCTCTGGAC	0.348			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													83	82	82					6																	117622176		2203	4300	6503	SO:0001587	stop_gained	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6694G>T	6.37:g.117622176C>A	ENSP00000357494:p.Glu2232*		Q15368|Q5TDB5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E2232*	ENST00000368508.3	37	c.6694	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	48	14.086237	0.99778	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.02	2.07	0.26955	.	0.397966	0.24072	N	0.041810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	3.2984	0.06974	0.0:0.4959:0.2152:0.2889	.	.	.	.	X	2232;2226	.	ENSP00000357493:E2226X	E	-	1	0	ROS1	117728869	0.001000	0.12720	0.006000	0.13384	0.960000	0.62799	0.941000	0.29005	0.694000	0.31654	0.655000	0.94253	GAA	ROS1	-	NULL		0.348	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117622176	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	117622176	C	A	117622176	4	1	147	1	0	0	0	0	0	1	0	0	13561	835	29	3	357	3	ROS1	6	117622176	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	633947	117622176	53492891	438	23692	131	2								
ROS1	6098	genome.wustl.edu	37	chr6	117622181	117622181	+	Missense_Mutation	SNP	C	C	G													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cactgttgtttgcttcatctCtggacttataaatgctattt							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:117622181C>G	ENST00000368508.3	-	42	6887	c.6689G>C	c.(6688-6690)aGa>aCa	p.R2230T	ROS1_ENST00000368507.3_Missense_Mutation_p.R2224T|RN7SKP18_ENST00000516005.1_RNA|RN7SKP51_ENST00000410781.1_RNA	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2230					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTTCATCTCTGGACTTATA	0.363			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													82	82	82					6																	117622181		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6689G>C	6.37:g.117622181C>G	ENSP00000357494:p.Arg2230Thr		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R2230T	ENST00000368508.3	37	c.6689	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	5.789	0.329901	0.10956	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71103	-0.54;-0.54	5.02	1.1	0.20463	.	0.565487	0.17031	N	0.189734	T	0.26268	0.0641	N	0.24115	0.695	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.21793	-1.0235	10	0.19147	T	0.46	.	5.0358	0.14434	0.1362:0.5512:0.0:0.3127	.	2230	P08922	ROS1_HUMAN	T	2230;2224	ENSP00000357494:R2230T;ENSP00000357493:R2224T	ENSP00000357493:R2224T	R	-	2	0	ROS1	117728874	0.000000	0.05858	0.001000	0.08648	0.872000	0.50106	-0.100000	0.10990	0.062000	0.16340	-0.140000	0.14226	AGA	ROS1	-	NULL		0.363	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117622181	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	0.002	G	G	117622181	C	G	117622181	3	3	147	1	0	0	0	0	1	0	0	0	13561	913	32	1	362	1	ROS1	6	117622181	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5	117622181	53492886	439	23693	131	2								
HSF2	3298	genome.wustl.edu	37	chr6	122743932	122743932	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagtatgcacctgtcattcaGagtggagagcagaatgaacc	12	8	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:122743932G>A	ENST00000368455.4	+	9	1092	c.900G>A	c.(898-900)caG>caA	p.Q300Q	HSF2_ENST00000452194.1_Silent_p.Q300Q	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	300					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CTGTCATTCAGAGTGGAGAGC	0.453																																																	0													102	94	97					6																	122743932		2203	4300	6503	SO:0001819	synonymous_variant	3298			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.900G>A	6.37:g.122743932G>A			B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.Q300	ENST00000368455.4	37	c.900	CCDS5124.1	6																																																																																			HSF2	-	pfam_Vert_HS_TF		0.453	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2	HGNC	protein_coding	OTTHUMT00000043520.1	G	NM_004506		122743932	1	no_errors	ENST00000368455	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122743932	G	A	122743932	2	1	147	1	0	0	0	0	0	0	0	1	7416	933	33	1		1	HSF2	6	122743932	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5121751	122743932	48371135	440	23694										
NCOA7	135112	genome.wustl.edu	37	chr6	126249855	126249855	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttgcagcactttcaataatGatattctttccaaaaaggaa	5	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:126249855G>A	ENST00000368357.3	+	17	3119	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N	NCOA7_ENST00000229634.9_Missense_Mutation_p.D808N|NCOA7_ENST00000392477.2_Missense_Mutation_p.D923N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	923	TLD.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTCAATAATGATATTCTTTC	0.353																																																	0													107	111	110					6																	126249855		2203	4300	6503	SO:0001583	missense	135112			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2767G>A	6.37:g.126249855G>A	ENSP00000357341:p.Asp923Asn		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.D923N	ENST00000368357.3	37	c.2767	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885456	0.51908	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634	T;T;T	0.43688	0.94;0.94;0.94	6.17	6.17	0.99709	TLDc (2);	0.098280	0.64402	D	0.000001	T	0.49813	0.1579	L	0.43923	1.385	0.53005	D	0.999966	D;B;D;D	0.89917	0.997;0.096;1.0;1.0	D;B;D;D	0.91635	0.951;0.115;0.999;0.999	T	0.09185	-1.0686	10	0.20046	T	0.44	-23.3334	20.8794	0.99867	0.0:0.0:1.0:0.0	.	912;217;912;923	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.;.;.;NCOA7_HUMAN	N	923;923;808	ENSP00000357341:D923N;ENSP00000376269:D923N;ENSP00000229634:D808N	ENSP00000229634:D808N	D	+	1	0	NCOA7	126291548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.263000	0.58853	2.941000	0.99782	0.655000	0.94253	GAT	NCOA7	-	pfam_TLDc,smart_TLDc		0.353	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	G	XM_059748		126249855	1	no_errors	ENST00000368357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126249855	G	A	126249855	3	1	147	1	0	0	0	0	1	0	0	0	10258	1290	45	1	2825	1	NCOA7	6	126249855	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3505923	126249855	44865212	441	23695										
PTPRK	5796	genome.wustl.edu	37	chr6	128318103	128318103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgatcttttttagctacatCccaagatgctgactgtcctt	6	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:128318103C>G	ENST00000368215.3	-	17	2706	c.2707G>C	c.(2707-2709)Gat>Cat	p.D903H	PTPRK_ENST00000368227.3_Missense_Mutation_p.D916H|PTPRK_ENST00000532331.1_Missense_Mutation_p.D920H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D930H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D904H|PTPRK_ENST00000368210.3_Missense_Mutation_p.D916H|PTPRK_ENST00000368213.5_Missense_Mutation_p.D904H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	903	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAGCTACATCCCAAGATGCT	0.318																																																	0													88	82	84					6																	128318103		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2707G>C	6.37:g.128318103C>G	ENSP00000357198:p.Asp903His		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D916H	ENST00000368215.3	37	c.2746		6	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833831	0.91036	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;2.77	5.68	5.68	0.88126	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.58354	1.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.997	D;D;D;D	0.81914	0.991;0.995;0.954;0.979	T	0.44436	-0.9328	10	0.87932	D	0	.	20.1325	0.98004	0.0:1.0:0.0:0.0	.	920;904;903;904	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	H	904;916;920;904;916;903;930;163	ENSP00000357209:D904H;ENSP00000357210:D916H;ENSP00000432973:D920H;ENSP00000357196:D904H;ENSP00000357193:D916H;ENSP00000357198:D903H;ENSP00000357190:D930H;ENSP00000408180:D163H	ENSP00000357190:D930H	D	-	1	0	PTPRK	128359796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.752000	0.85141	2.839000	0.97877	0.650000	0.86243	GAT	PTPRK	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.318	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128318103	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128318103	C	G	128318103	3	3	147	1	0	0	0	0	1	0	0	0	12835	855	30	1	1690	1	PTPRK	6	128318103	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2068248	128318103	42796964	442	23696										
VNN1	8876	genome.wustl.edu	37	chr6	133035100	133035100	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctcataaacagctgcagtGaaagtgtcctggcagctggc	12	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:133035100G>A	ENST00000367928.4	-	1	88	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	25	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CAGCTGCAGTGAAAGTGTCCT	0.473																																																	0													97	84	88					6																	133035100		2203	4300	6503	SO:0001819	synonymous_variant	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.75C>T	6.37:g.133035100G>A			A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.F25	ENST00000367928.4	37	c.75	CCDS5159.1	6																																																																																			VNN1	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.473	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	G			133035100	-1	no_errors	ENST00000367928	ensembl	human	known	70_37	silent	SNP	0.003	A	A	133035100	G	A	133035100	2	1	147	1	0	0	0	0	0	0	0	1	17213	1281	45	1		1	VNN1	6	133035100	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4716997	133035100	38079967	443	23697										
VNN2	8875	genome.wustl.edu	37	chr6	133065601	133065601	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ataggcccagatgatccattCttgtttaccaaacgcccatc	6	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:133065601C>G	ENST00000326499.6	-	7	1525	c.1401G>C	c.(1399-1401)aaG>aaC	p.K467N	VNN2_ENST00000525270.1_Missense_Mutation_p.K414N|VNN2_ENST00000525289.1_Missense_Mutation_p.K246N	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	467					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ATGATCCATTCTTGTTTACCA	0.398																																																	0													121	104	110					6																	133065601		2203	4300	6503	SO:0001583	missense	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1401G>C	6.37:g.133065601C>G	ENSP00000322276:p.Lys467Asn		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.K467N	ENST00000326499.6	37	c.1401	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920549	0.33908	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.94793	-3.52;-3.52;-3.52	4.53	3.58	0.41010	.	0.387044	0.24720	N	0.036149	D	0.87006	0.6070	M	0.64404	1.975	0.09310	N	0.999994	P;P	0.42518	0.782;0.67	B;B	0.40444	0.329;0.131	T	0.79070	-0.1954	10	0.17832	T	0.49	-16.2046	9.402	0.38437	0.3401:0.6599:0.0:0.0	.	246;467	O95498-2;O95498	.;VNN2_HUMAN	N	467;414;246	ENSP00000322276:K467N;ENSP00000436822:K414N;ENSP00000436935:K246N	ENSP00000322276:K467N	K	-	3	2	VNN2	133107294	0.339000	0.24784	0.242000	0.24170	0.964000	0.63967	1.865000	0.39479	2.199000	0.70637	0.655000	0.94253	AAG	VNN2	-	pirsf_Biotinidase_euk		0.398	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	C			133065601	-1	no_errors	ENST00000326499	ensembl	human	known	70_37	missense	SNP	0.599	G	G	133065601	C	G	133065601	3	3	147	1	0	0	0	0	1	0	0	0	17214	912	32	1	165	1	VNN2	6	133065601	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	30501	133065601	38049466	444	23698										
MAP3K5	4217	genome.wustl.edu	37	chr6	136934374	136934374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taatggaccccatttggaacGaaggagagcagaaagacttc	11	8	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:136934374G>A	ENST00000359015.4	-	17	2659	c.2299C>T	c.(2299-2301)Cgt>Tgt	p.R767C	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R14C	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CATTTGGAACGAAGGAGAGCA	0.318																																																	0													89	84	86					6																	136934374		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2299C>T	6.37:g.136934374G>A	ENSP00000351908:p.Arg767Cys		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R767C	ENST00000359015.4	37	c.2299	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684138	0.68157	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66815	-0.23;-0.23	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101256	0.64402	D	0.000003	T	0.75236	0.3822	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.76575	0.988;0.896	T	0.78011	-0.2371	10	0.87932	D	0	.	13.2619	0.60111	0.0:0.0:0.7227:0.2773	.	847;767	Q59GL6;Q99683	.;M3K5_HUMAN	C	767;14;847	ENSP00000351908:R767C;ENSP00000348104:R14C	ENSP00000348104:R14C	R	-	1	0	MAP3K5	136976067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.620000	0.36976	2.667000	0.90743	0.655000	0.94253	CGT	MAP3K5	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136934374	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	0.997	A	A	136934374	G	A	136934374	3	1	147	1	0	0	0	0	1	0	0	0	9276	1058	37	1	1881	1	MAP3K5	6	136934374	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3868773	136934374	34180693	445	23699										
TNFAIP3	7128	genome.wustl.edu	37	chr6	138196079	138196079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcgctgttcagcacgctcaaGgaaacagacacacgcaactt	9	13	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:138196079G>A	ENST00000237289.4	+	3	459	c.393G>A	c.(391-393)aaG>aaA	p.K131K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	131	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.W113_F140del(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCACGCTCAAGGAAACAGACA	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(26)											124	116	118					6																	138196079		2203	4300	6503	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.393G>A	6.37:g.138196079G>A			B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.K131	ENST00000237289.4	37	c.393	CCDS5187.1	6																																																																																			TNFAIP3	-	pfam_OTU,pfscan_OTU		0.502	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	G			138196079	1	no_errors	ENST00000237289	ensembl	human	known	70_37	silent	SNP	1.000	A	A	138196079	G	A	138196079	2	1	147	1	0	0	0	0	0	0	0	1	16304	991	35	4		4	TNFAIP3	6	138196079	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1261705	138196079	32918988	446	23700										
HIVEP2	3097	genome.wustl.edu	37	chr6	143090691	143090691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taaaacagtatttgttacctGagtaaactgcttccaagcac	6	9	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:143090691G>C	ENST00000367604.1	-	4	5824	c.5185C>G	c.(5185-5187)Cag>Gag	p.Q1729E	HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q1729E|HIVEP2_ENST00000367603.2_Missense_Mutation_p.Q1729E			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTGTTACCTGAGTAAACTGC	0.383																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													86	79	81					6																	143090691		1867	4119	5986	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5185C>G	6.37:g.143090691G>C	ENSP00000356576:p.Gln1729Glu		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1729E	ENST00000367604.1	37	c.5185	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988717	0.18966	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02121	4.44;4.44;4.44	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.03220	0.0094	L	0.35723	1.085	0.80722	D	1	D	0.62365	0.991	P	0.54544	0.755	T	0.64622	-0.6364	10	0.35671	T	0.21	-19.0191	20.031	0.97536	0.0:0.0:1.0:0.0	.	1729	P31629	ZEP2_HUMAN	E	1729	ENSP00000356576:Q1729E;ENSP00000356575:Q1729E;ENSP00000012134:Q1729E	ENSP00000012134:Q1729E	Q	-	1	0	HIVEP2	143132384	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.782000	0.85680	2.735000	0.93741	0.655000	0.94253	CAG	HIVEP2	-	NULL		0.383	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143090691	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	C	C	143090691	G	C	143090691	3	2	147	1	0	0	0	0	1	0	0	0	7207	1299	45	1	2179	1	HIVEP2	6	143090691	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4894612	143090691	28024376	447	23701										
HIVEP2	3097	genome.wustl.edu	37	chr6	143091090	143091090	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttgtggcccttcccttcctCttccagctgaccatctcctg	6	18	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:143091090C>A	ENST00000367604.1	-	4	5425	c.4786G>T	c.(4786-4788)Gag>Tag	p.E1596*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.E1596*|HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.E1596*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCTTCCTCTTCCAGCTGA	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													77	84	82					6																	143091090		2108	4238	6346	SO:0001587	stop_gained	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4786G>T	6.37:g.143091090C>A	ENSP00000356576:p.Glu1596*		Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1596*	ENST00000367604.1	37	c.4786	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	49	14.980722	0.99817	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.95	5.95	0.96441	.	0.373318	0.33110	N	0.005266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-13.1898	20.3697	0.98890	0.0:1.0:0.0:0.0	.	.	.	.	X	1596	.	ENSP00000012134:E1596X	E	-	1	0	HIVEP2	143132783	1.000000	0.71417	0.993000	0.49108	0.649000	0.38597	5.661000	0.68025	2.811000	0.96726	0.655000	0.94253	GAG	HIVEP2	-	NULL		0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143091090	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	143091090	C	A	143091090	4	1	147	1	0	0	0	0	0	1	0	0	7207	922	32	3	2578	3	HIVEP2	6	143091090	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	399	143091090	28023977	448	23702										
AKAP12	9590	genome.wustl.edu	37	chr6	151672053	151672053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaacgaagatgactctgatGtcccggccgtggtccctctg	11	14	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:151672053G>A	ENST00000253332.1	+	3	2716	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I	AKAP12_ENST00000354675.6_Missense_Mutation_p.V745I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V738I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V843I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	843					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGACTCTGATGTCCCGGCCGT	0.542																																					Melanoma(141;1616 1805 10049 24534 51979)												0													91	103	99					6																	151672053		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2527G>A	6.37:g.151672053G>A	ENSP00000253332:p.Val843Ile		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V843I	ENST00000253332.1	37	c.2527	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787523	0.16258	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08102	3.13;3.13;3.15;3.15	5.49	3.47	0.39725	.	0.187507	0.26341	N	0.024931	T	0.02888	0.0086	L	0.47716	1.5	0.36535	D	0.870974	B;B;B	0.31318	0.319;0.319;0.214	B;B;B	0.26416	0.069;0.069;0.031	T	0.37619	-0.9698	10	0.33940	T	0.23	.	8.8997	0.35487	0.2929:0.0:0.7071:0.0	.	738;745;843	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	843;843;745;738	ENSP00000384537:V843I;ENSP00000253332:V843I;ENSP00000346702:V745I;ENSP00000352794:V738I	ENSP00000253332:V843I	V	+	1	0	AKAP12	151713746	0.991000	0.36638	0.760000	0.31359	0.017000	0.09413	2.705000	0.47127	1.330000	0.45394	0.561000	0.74099	GTC	AKAP12	-	NULL		0.542	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	G			151672053	1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.943	A	A	151672053	G	A	151672053	3	1	147	1	0	0	0	0	1	0	0	0	448	1377	48	4	2566	4	AKAP12	6	151672053	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8580963	151672053	19443014	449	23703										
ESR1	2099	genome.wustl.edu	37	chr6	152163896	152163896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggtcctgtgagggctgcaAggccttcttcaagagaagta	13	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:152163896A>G	ENST00000206249.3	+	2	979	c.617A>G	c.(616-618)aAg>aGg	p.K206R	ESR1_ENST00000440973.1_Missense_Mutation_p.K206R|ESR1_ENST00000443427.1_Missense_Mutation_p.K206R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.K206R|ESR1_ENST00000456483.2_Missense_Mutation_p.K206R|ESR1_ENST00000427531.2_Missense_Mutation_p.K33R	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	206	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GAGGGCTGCAAGGCCTTCTTC	0.458																																																	0													125	112	116					6																	152163896		2203	4300	6503	SO:0001583	missense	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.617A>G	6.37:g.152163896A>G	ENSP00000206249:p.Lys206Arg		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.K206R	ENST00000206249.3	37	c.617	CCDS5234.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	30|30	5.051224|5.051224	0.93740|0.93740	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;D;D|.	0.98164|.	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75057|0.75057	0.3798|0.3798	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.996;1.0;0.999;1.0|.	T|T	0.78056|0.78056	-0.2353|-0.2353	10|5	0.87932|.	D|.	0|.	.|.	16.635|16.635	0.85050|0.85050	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	13;206;206;206|.	B5LY05;A8KAF4;G4XH65;P03372|.	.;.;.;ESR1_HUMAN|.	R|G	206;206;206;206;206;31;134;33|111	ENSP00000405330:K206R;ENSP00000342630:K206R;ENSP00000415934:K206R;ENSP00000387500:K206R;ENSP00000206249:K206R;ENSP00000445454:K33R|.	ENSP00000206249:K206R|.	K|R	+|+	2|1	0|2	ESR1|ESR1	152205589|152205589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGG	ESR1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.458	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	A			152163896	1	no_errors	ENST00000206249	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152163896	A	G	152163896	3	3	147	1	0	0	0	0	1	0	0	0	5268	72	3	5	623	5	ESR1	6	152163896	Missense_Mutation	SNP	A	TCGA-IR-A3LA-01A-11D-A22X-09	491843	152163896	18951171	450	23704										
SYNE1	23345	genome.wustl.edu	37	chr6	152599269	152599269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agggctctctgcagctccagCaggctccccttgagccttct	10	16	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:152599269C>T	ENST00000367255.5	-	98	19129	c.18528G>A	c.(18526-18528)ctG>ctA	p.L6176L	SYNE1_ENST00000448038.1_Silent_p.L6105L|SYNE1_ENST00000341594.5_Silent_p.L5788L|SYNE1_ENST00000356820.4_Silent_p.L700L|SYNE1_ENST00000423061.1_Silent_p.L6105L|SYNE1_ENST00000265368.4_Silent_p.L6176L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6176					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGCTCCAGCAGGCTCCCCT	0.587										HNSCC(10;0.0054)																																							0													98	101	100					6																	152599269		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18528G>A	6.37:g.152599269C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6176	ENST00000367255.5	37	c.18528	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152599269	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.815	T	T	152599269	C	T	152599269	2	4	147	1	0	0	0	0	0	0	0	1	15475	697	25	4		4	SYNE1	6	152599269	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	435373	152599269	18515798	451	23705										
SLC22A2	6582	genome.wustl.edu	37	chr6	160666565	160666565	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttcttgccagtttcctcttCaagtctcaggcgctaagaaa	7	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:160666565C>G	ENST00000366953.3	-	6	1228	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	SLC22A2_ENST00000366952.1_Missense_Mutation_p.E303Q|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	324					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GTTTCCTCTTCAAGTCTCAGG	0.393																																																	0													74	70	71					6																	160666565		2203	4300	6503	SO:0001583	missense	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.970G>C	6.37:g.160666565C>G	ENSP00000355920:p.Glu324Gln		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E324Q	ENST00000366953.3	37	c.970	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235459	0.22626	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.75050	-0.9;-0.9	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.431373	0.25978	N	0.027100	T	0.50922	0.1644	L	0.33189	0.99	0.22066	N	0.999388	B;B	0.21520	0.057;0.037	B;B	0.31101	0.082;0.124	T	0.36962	-0.9726	10	0.10902	T	0.67	.	18.8542	0.92244	0.0:1.0:0.0:0.0	.	324;324	O15244;O15244-2	S22A2_HUMAN;.	Q	324;303	ENSP00000355920:E324Q;ENSP00000355919:E303Q	ENSP00000355919:E303Q	E	-	1	0	SLC22A2	160586555	0.197000	0.23362	0.000000	0.03702	0.018000	0.09664	2.206000	0.42779	2.674000	0.91012	0.655000	0.94253	GAA	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.393	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	C	NM_003058		160666565	-1	no_errors	ENST00000366953	ensembl	human	known	70_37	missense	SNP	0.022	G	G	160666565	C	G	160666565	3	3	147	1	0	0	0	0	1	0	0	0	14480	835	29	1	721	1	SLC22A2	6	160666565	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8067296	160666565	10448502	452	23706										
INTS1	26173	genome.wustl.edu	37	chr7	1512808	1512808	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcaccaggtcactgttgtcGaaggacaggtcgctggggag	15	9	2	0	rs138397380	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:1512808G>A	ENST00000404767.3	-	43	6055	c.5970C>T	c.(5968-5970)ttC>ttT	p.F1990F	INTS1_ENST00000389470.4_Silent_p.F2194F	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1990					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.F2194F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACTGTTGTCGAAGGACAGGT	0.627																																																	1	Substitution - coding silent(1)	lung(1)											46	50	48					7																	1512808		2116	4231	6347	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5970C>T	7.37:g.1512808G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.F2194	ENST00000404767.3	37	c.6582	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1512808	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.942	A	A	1512808	G	A	1512808	2	1	147	1	0	0	0	0	0	0	0	1	7795	1049	37	1		1	INTS1	7	1512808	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		1512808	157625855	453	23707										
INTS1	26173	genome.wustl.edu	37	chr7	1522299	1522299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtgggcagtggcttctcctCcggaaaccagatgtccagca	13	12	1	1	rs368845872		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:1522299C>T	ENST00000404767.3	-	27	3671	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K	INTS1_ENST00000389470.4_Missense_Mutation_p.E1358K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1196					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGCTTCTCCTCCGGAAACCAG	0.637																																																	0									LYS/GLU	2,4184		0,2,2091	49	59	56		3586	4.7	0.9	7		56	0,8438		0,0,4219	no	missense	INTS1	NM_001080453.2	56	0,2,6310	TT,TC,CC		0.0,0.0478,0.0158	benign	1196/2191	1522299	2,12622	2093	4219	6312	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3586G>A	7.37:g.1522299C>T	ENSP00000385722:p.Glu1196Lys		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.E1358K	ENST00000404767.3	37	c.4072	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030772	0.35797	4.78E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.46819	0.86;0.86	4.67	4.67	0.58626	.	0.111978	0.32703	U	0.005747	T	0.39118	0.1066	L	0.31926	0.97	0.51767	D	0.999937	B	0.02656	0.0	B	0.04013	0.001	T	0.15723	-1.0427	10	0.27082	T	0.32	.	17.5786	0.87958	0.0:1.0:0.0:0.0	.	1196	Q8N201	INT1_HUMAN	K	1196;1358	ENSP00000385722:E1196K;ENSP00000374121:E1358K	ENSP00000374121:E1358K	E	-	1	0	INTS1	1488825	1.000000	0.71417	0.947000	0.38551	0.469000	0.32828	7.547000	0.82146	2.154000	0.67381	0.561000	0.74099	GAG	INTS1	-	NULL		0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1522299	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1522299	C	T	1522299	3	4	147	1	0	0	0	0	1	0	0	0	7795	864	30	1	3074	1	INTS1	7	1522299	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9491	1522299	157616364	454	23708										
ZNF12	7559	genome.wustl.edu	37	chr7	6730895	6730895	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatagtgaggtatgacatctGagagaagaattttccacata	9	5	1	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6730895G>C	ENST00000405858.1	-	5	2219	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	ZNF12_ENST00000404360.1_Missense_Mutation_p.Q486E|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.Q522E|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	560					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATGACATCTGAGAGAAGAAT	0.408																																																	0													44	48	47					7																	6730895		2148	4281	6429	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1678C>G	7.37:g.6730895G>C	ENSP00000385939:p.Gln560Glu		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q560E	ENST00000405858.1	37	c.1678	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	3.139	-0.176808	0.06380	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.15834	2.39;2.39;2.39	4.0	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002605	T	0.13798	0.0334	L	0.46885	1.475	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.10450	0.005;0.005	T	0.20174	-1.0283	10	0.37606	T	0.19	.	8.8112	0.34967	0.0:0.4634:0.3767:0.16	.	560;522	P17014;P17014-5	ZNF12_HUMAN;.	E	486;560;522;618	ENSP00000384405:Q486E;ENSP00000385939:Q560E;ENSP00000344745:Q522E	ENSP00000344745:Q522E	Q	-	1	0	ZNF12	6697420	0.000000	0.05858	0.989000	0.46669	0.994000	0.84299	0.176000	0.16782	0.230000	0.21059	0.655000	0.94253	CAG	ZNF12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6730895	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	missense	SNP	0.000	C	C	6730895	G	C	6730895	3	2	147	1	0	0	0	0	1	0	0	0	17748	1299	45	1	419	1	ZNF12	7	6730895	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5208596	6730895	152407768	455	23709			3	105		4	4	1262	G		1.715017e-05
ZNF12	7559	genome.wustl.edu	37	chr7	6731026	6731026	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attcatagggttttactcctGaatgagttctatgatggata	9	5	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6731026G>C	ENST00000405858.1	-	5	2088	c.1547C>G	c.(1546-1548)tCa>tGa	p.S516*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.S442*|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.S478*|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	516					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTTACTCCTGAATGAGTTCT	0.418																																																	0													82	90	88					7																	6731026		2185	4297	6482	SO:0001587	stop_gained	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1547C>G	7.37:g.6731026G>C	ENSP00000385939:p.Ser516*		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S516*	ENST00000405858.1	37	c.1547	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.318858	0.99135	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	3.87	1.05	0.20165	.	0.000000	0.31709	N	0.007188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.1722	0.31262	0.2804:0.0:0.7196:0.0	.	.	.	.	X	442;516;478;574	.	ENSP00000344745:S478X	S	-	2	0	ZNF12	6697551	0.984000	0.35163	0.993000	0.49108	0.967000	0.64934	1.910000	0.39927	0.224000	0.20940	0.563000	0.77884	TCA	ZNF12	-	pfscan_Znf_C2H2		0.418	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6731026	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	6731026	G	C	6731026	4	2	147	1	0	0	0	0	0	1	0	0	17748	1294	45	1	550	1	ZNF12	7	6731026	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	131	6731026	152407637	456	23710			3	105		4	4	1262	G		1.715017e-05
ZNF12	7559	genome.wustl.edu	37	chr7	6731056	6731056	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatgatggatagtgaggtatGacaactgggagaataacttt	12	3	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6731056G>C	ENST00000405858.1	-	5	2058	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.S432*|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.S468*|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	506					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AGTGAGGTATGACAACTGGGA	0.418																																																	0													103	113	110					7																	6731056		2190	4299	6489	SO:0001587	stop_gained	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1517C>G	7.37:g.6731056G>C	ENSP00000385939:p.Ser506*		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S506*	ENST00000405858.1	37	c.1517	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.556813	0.98861	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	3.87	3.87	0.44632	.	0.000000	0.32935	N	0.005468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.568	0.27890	0.1141:0.0:0.8859:0.0	.	.	.	.	X	432;506;468;564	.	ENSP00000344745:S468X	S	-	2	0	ZNF12	6697581	0.000000	0.05858	0.965000	0.40720	0.998000	0.95712	0.730000	0.26043	2.452000	0.82932	0.563000	0.77884	TCA	ZNF12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6731056	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	6731056	G	C	6731056	4	2	147	1	0	0	0	0	0	1	0	0	17748	1294	45	1	580	1	ZNF12	7	6731056	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	30	6731056	152407607	457	23711			3	105		4	4	1262	G		1.715017e-05
ZNF12	7559	genome.wustl.edu	37	chr7	6732156	6732156	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacttttcacatgagtcacaGaggctatttttataggctat	7	8	2	2	rs547070193		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6732156G>C	ENST00000405858.1	-	5	958	c.417C>G	c.(415-417)ctC>ctG	p.L139L	ZNF12_ENST00000404360.1_Intron|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Intron|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	139					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATGAGTCACAGAGGCTATTTT	0.373																																																	0													171	165	167					7																	6732156		1843	4089	5932	SO:0001819	synonymous_variant	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.417C>G	7.37:g.6732156G>C			A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L139	ENST00000405858.1	37	c.417	CCDS47538.1	7																																																																																			ZNF12	-	NULL		0.373	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6732156	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	silent	SNP	0.980	C	C	6732156	G	C	6732156	2	2	147	1	0	0	0	0	0	0	0	1	17748	929	33	1		1	ZNF12	7	6732156	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1100	6732156	152406507	458	23712			3	105		4	4	1262	G		1.715017e-05
THSD7A	221981	genome.wustl.edu	37	chr7	11446027	11446027	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcctcatccaccactttgctGaaatcatcagctgacccatc	4	16	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:11446027G>A	ENST00000423059.4	-	22	4388	c.4137C>T	c.(4135-4137)ttC>ttT	p.F1379F	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1379	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACTTTGCTGAAATCATCAG	0.443										HNSCC(18;0.044)																																							0													100	101	101					7																	11446027		1946	4160	6106	SO:0001819	synonymous_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4137C>T	7.37:g.11446027G>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.F1379	ENST00000423059.4	37	c.4137	CCDS47543.1	7																																																																																			THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11446027	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	silent	SNP	0.929	A	A	11446027	G	A	11446027	2	1	147	1	0	0	0	0	0	0	0	1	15909	1281	45	1		1	THSD7A	7	11446027	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4713871	11446027	147692636	459	23713										
STK31	56164	genome.wustl.edu	37	chr7	23826166	23826166	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acacagaagccaaggtgattGagagagcagccacctaccat	10	11	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:23826166G>A	ENST00000355870.3	+	19	2433	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	STK31_ENST00000354639.3_Missense_Mutation_p.E749K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E772K|STK31_ENST00000428484.1_Missense_Mutation_p.E749K	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAAGGTGATTGAGAGAGCAGC	0.403																																																	0													114	102	106					7																	23826166		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2314G>A	7.37:g.23826166G>A	ENSP00000348132:p.Glu772Lys		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.E772K	ENST00000355870.3	37	c.2314	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541882	0.45280	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.73789	-0.78;2.1;-0.78;-0.78	5.18	2.12	0.27331	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.292368	0.30269	N	0.010018	T	0.51227	0.1662	N	0.11255	0.115	0.33528	D	0.593282	B;B	0.17465	0.022;0.022	B;B	0.15052	0.012;0.009	T	0.51340	-0.8718	10	0.30078	T	0.28	-1.2233	8.5706	0.33567	0.2406:0.3145:0.4449:0.0	.	772;772	B4DZ06;Q9BXU1	.;STK31_HUMAN	K	772;772;749;749	ENSP00000348132:E772K;ENSP00000411852:E772K;ENSP00000346660:E749K;ENSP00000406146:E749K	ENSP00000346660:E749K	E	+	1	0	STK31	23792691	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.462000	0.35266	0.540000	0.28808	-0.479000	0.04858	GAG	STK31	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	G	NM_031414		23826166	1	no_errors	ENST00000355870	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23826166	G	A	23826166	3	1	147	1	0	0	0	0	1	0	0	0	15326	1291	45	1	2388	1	STK31	7	23826166	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12380139	23826166	135312497	460	23714										
PDE1C	5137	genome.wustl.edu	37	chr7	31917616	31917616	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ataacagctggtggatagctCagtccaaccatgtttgatgt	10	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:31917616C>T	ENST00000396191.1	-	5	914	c.459G>A	c.(457-459)ctG>ctA	p.L153L	PDE1C_ENST00000396193.1_Silent_p.L213L|PDE1C_ENST00000321453.7_Silent_p.L153L|PDE1C_ENST00000396184.3_Silent_p.L153L|PDE1C_ENST00000396182.2_Silent_p.L153L	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	153					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTGGATAGCTCAGTCCAACCA	0.343																																																	0													123	115	117					7																	31917616		2203	4300	6503	SO:0001819	synonymous_variant	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.459G>A	7.37:g.31917616C>T			B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L153	ENST00000396191.1	37	c.459	CCDS55099.1	7																																																																																			PDE1C	-	NULL		0.343	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	C			31917616	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	silent	SNP	0.997	T	T	31917616	C	T	31917616	2	4	147	1	0	0	0	0	0	0	0	1	11659	813	29	1		1	PDE1C	7	31917616	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8091450	31917616	127221047	461	23715										
BBS9	27241	genome.wustl.edu	37	chr7	33296998	33296998	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttccttccttactgtctcttCctgccaacaagtggaaagtt	6	12	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:33296998C>G	ENST00000242067.6	+	6	1114	c.593C>G	c.(592-594)tCc>tGc	p.S198C	BBS9_ENST00000396127.2_Missense_Mutation_p.S198C|BBS9_ENST00000355070.2_Missense_Mutation_p.S198C|BBS9_ENST00000350941.3_Missense_Mutation_p.S198C|BBS9_ENST00000425508.2_Missense_Mutation_p.S153C|BBS9_ENST00000354265.4_Missense_Mutation_p.S198C	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	198					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACTGTCTCTTCCTGCCAACAA	0.423									Bardet-Biedl syndrome																																								0													154	143	147					7																	33296998		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.593C>G	7.37:g.33296998C>G	ENSP00000242067:p.Ser198Cys		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.S198C	ENST00000242067.6	37	c.593	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959322	0.92726	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.974;0.993;0.993;0.993;0.993	D	0.93143	0.6543	10	0.87932	D	0	-13.5396	20.2019	0.98263	0.0:1.0:0.0:0.0	.	198;198;198;198;198	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	C	198;198;198;198;198;198;198;153;76;76	ENSP00000242067:S198C;ENSP00000313122:S198C;ENSP00000379433:S198C;ENSP00000347182:S198C;ENSP00000346214:S198C;ENSP00000405151:S153C;ENSP00000388646:S76C	ENSP00000242067:S198C	S	+	2	0	BBS9	33263523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.776000	0.95493	0.655000	0.94253	TCC	BBS9	-	NULL		0.423	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	C			33296998	1	no_errors	ENST00000242067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33296998	C	G	33296998	3	3	147	1	0	0	0	0	1	0	0	0	1343	855	30	1	611	1	BBS9	7	33296998	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1379382	33296998	125841665	462	23716										
AOAH	313	genome.wustl.edu	37	chr7	36616224	36616224	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctgtgattacagtggtttCttttccataagcgaaggtaa	9	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:36616224C>G	ENST00000258749.5	-	13	1376	c.977G>C	c.(976-978)aGa>aCa	p.R326T	AOAH_ENST00000535891.1_Missense_Mutation_p.R294T|AOAH_ENST00000538464.1_Missense_Mutation_p.R48T|AOAH_ENST00000431169.1_Missense_Mutation_p.R326T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	326					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.R326T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACAGTGGTTTCTTTTCCATAA	0.294																																																	1	Substitution - Missense(1)	cervix(1)											154	147	150					7																	36616224		2203	4300	6503	SO:0001583	missense	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.977G>C	7.37:g.36616224C>G	ENSP00000258749:p.Arg326Thr		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.R326T	ENST00000258749.5	37	c.977	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674088	0.67928	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.9	4.9	0.64082	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.146441	0.47852	D	0.000204	T	0.50240	0.1604	.	.	.	0.41235	D	0.9866	D;D;D	0.89917	0.991;1.0;0.999	D;D;D	0.79784	0.991;0.993;0.966	T	0.52990	-0.8501	9	0.87932	D	0	.	13.793	0.63152	0.0:1.0:0.0:0.0	.	294;326;326	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	T	48;294;326;326;326	ENSP00000439283:R48T;ENSP00000441101:R294T;ENSP00000258749:R326T;ENSP00000405683:R326T	ENSP00000258749:R326T	R	-	2	0	AOAH	36582749	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.506000	0.53364	2.708000	0.92522	0.650000	0.86243	AGA	AOAH	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.294	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36616224	-1	no_errors	ENST00000258749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36616224	C	G	36616224	3	3	147	1	0	0	0	0	1	0	0	0	726	913	32	1	1127	1	AOAH	7	36616224	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3319226	36616224	122522439	463	23717										
VPS41	27072	genome.wustl.edu	37	chr7	38860835	38860835	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcaaaagtctcgtgaaattCttctccagaatacagtccaa	6	10	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:38860835C>G	ENST00000310301.4	-	6	406	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E93Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	118					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGTGAAATTCTTCTCCAGAA	0.368																																																	0													98	102	101					7																	38860835		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.352G>C	7.37:g.38860835C>G	ENSP00000309457:p.Glu118Gln		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.E118Q	ENST00000310301.4	37	c.352	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815907	0.70912	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048886	0.85682	D	0.000000	T	0.33731	0.0873	N	0.22421	0.69	0.46981	D	0.999273	P;P;P	0.34909	0.475;0.475;0.475	B;B;B	0.29176	0.099;0.099;0.099	T	0.10222	-1.0639	10	0.17369	T	0.5	-22.3689	18.4176	0.90575	0.0:1.0:0.0:0.0	.	118;93;118	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	118;93;44;105;68;68	ENSP00000309457:E118Q;ENSP00000379297:E93Q;ENSP00000412974:E44Q;ENSP00000411919:E105Q;ENSP00000407835:E68Q;ENSP00000398584:E68Q	ENSP00000265745:E118Q	E	-	1	0	VPS41	38827360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.206000	0.72154	2.788000	0.95919	0.555000	0.69702	GAA	VPS41	-	superfamily_WD40_repeat_dom,pirsf_VPS41		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	C			38860835	-1	no_errors	ENST00000310301	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38860835	C	G	38860835	3	3	147	1	0	0	0	0	1	0	0	0	17241	922	32	1	2308	1	VPS41	7	38860835	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2244611	38860835	120277828	464	23718										
CDK13	8621	genome.wustl.edu	37	chr7	40038973	40038973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgatagaatatgtgggcctCgctatggtgaaaccaaagaa	11	6	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:40038973C>T	ENST00000181839.4	+	4	2661	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R686C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	686					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATGTGGGCCTCGCTATGGTGA	0.348																																																	0													74	79	78					7																	40038973		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2056C>T	7.37:g.40038973C>T	ENSP00000181839:p.Arg686Cys		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.R686C	ENST00000181839.4	37	c.2056	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279355	0.80692	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.74632	-0.86;-0.78	5.43	5.43	0.79202	.	.	.	.	.	D	0.85465	0.5703	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.88;0.998;0.997	D	0.84533	0.0634	8	.	.	.	-6.7869	19.2537	0.93935	0.0:1.0:0.0:0.0	.	72;686;686	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	C	686	ENSP00000181839:R686C;ENSP00000340557:R686C	.	R	+	1	0	CDK13	40005498	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.153000	0.71819	2.552000	0.86080	0.643000	0.83706	CGC	CDK13	-	NULL		0.348	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40038973	1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40038973	C	T	40038973	3	4	147	1	0	0	0	0	1	0	0	0	3134	884	31	1	2070	1	CDK13	7	40038973	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1178138	40038973	119099690	465	23719										
MRPS24	64951	genome.wustl.edu	37	chr7	43908607	43908607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acggtgggcgatgtagtgcgGcgcgtgtgcctcctcgtagg	18	10	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:43908607G>A	ENST00000317534.5	-	3	236	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Missense_Mutation_p.A104V	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	59					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATGTAGTGCGGCGCGTGTGCC	0.617																																																	0													88	79	82					7																	43908607		2203	4300	6503	SO:0001583	missense	64951			AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.175C>T	7.37:g.43908607G>A	ENSP00000318158:p.Pro59Ser		A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	NULL	p.P59S	ENST00000317534.5	37	c.175	CCDS5473.1	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723864	0.89298	.	.	ENSG00000062582	ENST00000317534	T	0.69040	-0.37	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85020	0.0911	9	0.72032	D	0.01	.	15.2475	0.73517	0.0:0.0:1.0:0.0	.	59	Q96EL2	RT24_HUMAN	S	59	ENSP00000318158:P59S	ENSP00000318158:P59S	P	-	1	0	MRPS24	43875132	1.000000	0.71417	0.993000	0.49108	0.458000	0.32498	6.960000	0.76036	2.177000	0.69029	0.563000	0.77884	CCG	MRPS24	-	NULL		0.617	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS24	HGNC	protein_coding	OTTHUMT00000250949.1	G	NM_032014		43908607	-1	no_errors	ENST00000317534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43908607	G	A	43908607	3	1	147	1	0	0	0	0	1	0	0	0	9858	1203	42	4	336	4	MRPS24	7	43908607	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3869634	43908607	115230056	466	23720										
URGCP	55665	genome.wustl.edu	37	chr7	43916664	43916664	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taacctcagaaatgcatgcaGaatagctgctggaatgtcct	9	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:43916664G>A	ENST00000453200.1	-	6	2891	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L	URGCP_ENST00000402306.3_Silent_p.L791L|URGCP_ENST00000223341.7_Silent_p.L757L|URGCP_ENST00000447717.3_Silent_p.L757L|URGCP_ENST00000443736.1_Silent_p.L757L|URGCP_ENST00000336086.6_Silent_p.L757L|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	800	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AATGCATGCAGAATAGCTGCT	0.502																																																	0													120	116	117					7																	43916664		1987	4167	6154	SO:0001819	synonymous_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2398C>T	7.37:g.43916664G>A			E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	prints_GTP_binding_domain	p.L800	ENST00000453200.1	37	c.2398	CCDS47578.1	7																																																																																			URGCP	-	NULL		0.502	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	G	NM_001077664		43916664	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	silent	SNP	0.915	A	A	43916664	G	A	43916664	2	1	147	1	0	0	0	0	0	0	0	1	17057	933	33	1		1	URGCP	7	43916664	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8057	43916664	115221999	467	23721										
URGCP	55665	genome.wustl.edu	37	chr7	43918600	43918600	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgggtcccagtagatgatCtcctcttccatctggctctc	9	14	4	2	rs549264023		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:43918600C>T	ENST00000453200.1	-	6	955	c.462G>A	c.(460-462)gaG>gaA	p.E154E	URGCP_ENST00000402306.3_Silent_p.E145E|URGCP_ENST00000223341.7_Silent_p.E111E|URGCP_ENST00000447717.3_Silent_p.E111E|URGCP_ENST00000443736.1_Silent_p.E111E|URGCP_ENST00000336086.6_Silent_p.E111E|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	154					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTAGATGATCTCCTCTTCCA	0.552																																																	0													90	97	95					7																	43918600		2054	4194	6248	SO:0001819	synonymous_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.462G>A	7.37:g.43918600C>T			E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	prints_GTP_binding_domain	p.E154	ENST00000453200.1	37	c.462	CCDS47578.1	7																																																																																			URGCP	-	NULL		0.552	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	C	NM_001077664		43918600	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43918600	C	T	43918600	2	4	147	1	0	0	0	0	0	0	0	1	17057	912	32	1		1	URGCP	7	43918600	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1936	43918600	115220063	468	23722										
POLM	27434	genome.wustl.edu	37	chr7	44112891	44112891	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgggggacacaggcaggctCaggcgtttctctgctctgga	16	10	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:44112891C>T	ENST00000242248.5	-	11	1585	c.1484G>A	c.(1483-1485)tGa>tAa	p.*495*	POLM_ENST00000395831.3_Missense_Mutation_p.E433K|POLM_ENST00000335195.6_Silent_p.*458*|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGGCAGGCTCAGGCGTTTCT	0.567								DNA polymerases (catalytic subunits)																																									0													70	64	66					7																	44112891		2203	4300	6503	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1484G>A	7.37:g.44112891C>T			D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X	p.E433K	ENST00000242248.5	37	c.1297	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649392	0.87958	.	.	ENSG00000122678	ENST00000395831	T	0.27890	1.64	5.67	4.79	0.61399	.	0.277247	0.38663	N	0.001602	T	0.29423	0.0733	.	.	.	0.43250	D	0.995178	P	0.40731	0.728	B	0.39339	0.297	T	0.09207	-1.0685	9	0.87932	D	0	.	10.6211	0.45481	0.0:0.9115:0.0:0.0885	.	433	Q86WQ9	.	K	433	ENSP00000379174:E433K	ENSP00000379174:E433K	E	-	1	0	POLM	44079416	1.000000	0.71417	0.995000	0.50966	0.810000	0.45777	4.618000	0.61211	1.413000	0.46997	0.456000	0.33151	GAG	POLM	-	NULL		0.567	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	C	NM_013284		44112891	-1	no_errors	ENST00000395831	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	44112891	C	T	44112891	2	4	147	1	0	0	0	0	0	0	0	1	12230	837	29	1		1	POLM	7	44112891	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	194291	44112891	115025772	469	23723										
GCK	2645	genome.wustl.edu	37	chr7	44190560	44190560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccacccggcccaccttatCgatgtcttcgtgcctcacag	7	18	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:44190560C>T	ENST00000403799.3	-	4	947	c.478G>A	c.(478-480)Gat>Aat	p.D160N	GCK_ENST00000345378.2_Missense_Mutation_p.D161N|GCK_ENST00000437084.1_Missense_Mutation_p.D143N|GCK_ENST00000395796.3_Missense_Mutation_p.D159N|GCK_ENST00000476008.1_5'Flank	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	160	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCCACCTTATCGATGTCTTCG	0.567																																																	0													110	102	105					7																	44190560		2203	4300	6503	SO:0001583	missense	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.478G>A	7.37:g.44190560C>T	ENSP00000384247:p.Asp160Asn		A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.D161N	ENST00000403799.3	37	c.481	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747204	0.89663	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77	5.22	5.22	0.72569	Hexokinase, conserved site (1);Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	L	0.33339	1.005	0.58432	D	0.999998	D;B;D	0.89917	1.0;0.378;1.0	D;B;D	0.85130	0.997;0.04;0.994	D	0.97355	0.9966	10	0.35671	T	0.21	-59.0364	14.7428	0.69469	0.1452:0.8548:0.0:0.0	.	160;161;159	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	N	160;159;161;143	ENSP00000384247:D160N;ENSP00000379142:D159N;ENSP00000223366:D161N;ENSP00000402840:D143N	ENSP00000223366:D161N	D	-	1	0	GCK	44157085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.042000	0.70996	2.586000	0.87340	0.655000	0.94253	GAT	GCK	-	pfam_Hexokinase_N,prints_Hexokinase		0.567	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2	C			44190560	-1	no_errors	ENST00000345378	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44190560	C	T	44190560	3	4	147	1	0	0	0	0	1	0	0	0	6312	884	31	1	947	1	GCK	7	44190560	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	77669	44190560	114948103	470	23724										
CCM2	83605	genome.wustl.edu	37	chr7	45104112	45104112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggagcacgatgctgtgctCagcctgtctgcgtacaacgt	12	12	2	0	rs146259619	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:45104112C>T	ENST00000258781.6	+	4	488	c.339C>T	c.(337-339)ctC>ctT	p.L113L	CCM2_ENST00000544363.1_Silent_p.L113L|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.L107L|CCM2_ENST00000475551.1_Silent_p.L107L|CCM2_ENST00000541586.1_Silent_p.L55L|CCM2_ENST00000381112.3_Silent_p.L134L	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGCTGTGCTCAGCCTGTCTG	0.592																																																	0								C	,,,	2,4404	4.2+/-10.8	0,2,2201	72	50	57		402,165,339,339	5.3	1	7	dbSNP_134	57	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	,,,	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	,,,	134/466,55/387,113/354,113/445	45104112	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.339C>T	7.37:g.45104112C>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	pfscan_PTyr_interaction_dom	p.L134	ENST00000258781.6	37	c.402	CCDS5500.1	7																																																																																			CCM2	-	pfscan_PTyr_interaction_dom		0.592	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	C	NM_031443		45104112	1	no_errors	ENST00000381112	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45104112	C	T	45104112	2	4	147	1	0	0	0	0	0	0	0	1	2913	813	29	1		1	CCM2	7	45104112	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	913552	45104112	114034551	471	23725										
CCM2	83605	genome.wustl.edu	37	chr7	45104163	45104163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggagggacggggaggatatCatcctcagggtgcccatcca	15	10	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:45104163C>T	ENST00000258781.6	+	4	539	c.390C>T	c.(388-390)atC>atT	p.I130I	CCM2_ENST00000544363.1_Silent_p.I130I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.I124I|CCM2_ENST00000475551.1_Silent_p.I124I|CCM2_ENST00000541586.1_Silent_p.I72I|CCM2_ENST00000381112.3_Silent_p.I151I	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	130	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGGAGGATATCATCCTCAGGG	0.607																																																	0													88	57	68					7																	45104163		2203	4300	6503	SO:0001819	synonymous_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.390C>T	7.37:g.45104163C>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	pfscan_PTyr_interaction_dom	p.I151	ENST00000258781.6	37	c.453	CCDS5500.1	7																																																																																			CCM2	-	pfscan_PTyr_interaction_dom		0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	C	NM_031443		45104163	1	no_errors	ENST00000381112	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45104163	C	T	45104163	2	4	147	1	0	0	0	0	0	0	0	1	2913	816	29	1		1	CCM2	7	45104163	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	51	45104163	114034500	472	23726										
ABCA13	154664	genome.wustl.edu	37	chr7	48494709	48494709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtggccgcgatcctggcccGgaggctccgccgcacgctgc	15	17	0	0	rs536577347		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:48494709G>A	ENST00000435803.1	+	43	12665	c.12641G>A	c.(12640-12642)cGg>cAg	p.R4214Q	ABCA13_ENST00000544596.1_5'UTR	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4214					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCCTGGCCCGGAGGCTCCGC	0.706													G|||	1	0.000199681	0	0	5008	,	,		12922	0		0.001	False		,,,				2504	0																0													10	13	12					7																	48494709		2014	4111	6125	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12641G>A	7.37:g.48494709G>A	ENSP00000411096:p.Arg4214Gln		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4214Q	ENST00000435803.1	37	c.12641	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563778	0.45694	.	.	ENSG00000179869	ENST00000435803;ENST00000411975	D;D	0.92299	-3.01;-3.01	5.06	-5.45	0.02616	.	0.843566	0.10048	N	0.722623	T	0.78723	0.4328	N	0.08118	0	0.09310	N	0.999997	B;B	0.12630	0.006;0.002	B;B	0.04013	0.001;0.0	T	0.65138	-0.6241	10	0.87932	D	0	.	5.8628	0.18759	0.0725:0.4267:0.3259:0.1749	.	1916;4214	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Q	4214;17	ENSP00000411096:R4214Q;ENSP00000391042:R17Q	ENSP00000391042:R17Q	R	+	2	0	ABCA13	48465255	0.774000	0.28592	0.000000	0.03702	0.018000	0.09664	0.802000	0.27069	-0.818000	0.04329	-0.502000	0.04539	CGG	ABCA13	-	NULL		0.706	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48494709	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48494709	G	A	48494709	3	1	147	1	0	0	0	0	1	0	0	0	31	1116	39	2	12640	2	ABCA13	7	48494709	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3390546	48494709	110643954	473	23727										
ABCA13	154664	genome.wustl.edu	37	chr7	48511183	48511183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcacccagaattccaggattCatgtggctgcctggtaggtt	11	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:48511183C>T	ENST00000435803.1	+	45	12986	c.12962C>T	c.(12961-12963)tCa>tTa	p.S4321L	ABCA13_ENST00000544596.1_Missense_Mutation_p.S51L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4321					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCAGGATTCATGTGGCTGC	0.348																																																	0													65	57	59					7																	48511183		1819	4068	5887	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12962C>T	7.37:g.48511183C>T	ENSP00000411096:p.Ser4321Leu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S4321L	ENST00000435803.1	37	c.12962	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708846	0.68615	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87412	-2.07;-2.2;-2.25	5.65	4.77	0.60923	.	0.000000	0.41396	D	0.000886	D	0.89976	0.6871	L	0.58669	1.825	0.35948	D	0.833671	B;D;B	0.60575	0.234;0.988;0.079	B;D;B	0.62955	0.167;0.909;0.031	D	0.91319	0.5080	10	0.40728	T	0.16	.	10.2983	0.43637	0.0:0.9095:0.0:0.0905	.	51;2023;4321	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4321;94;51	ENSP00000411096:S4321L;ENSP00000391042:S94L;ENSP00000442634:S51L	ENSP00000391042:S94L	S	+	2	0	ABCA13	48481729	0.021000	0.18746	0.176000	0.23000	0.943000	0.58893	1.475000	0.35409	1.378000	0.46305	0.591000	0.81541	TCA	ABCA13	-	NULL		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48511183	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.901	T	T	48511183	C	T	48511183	3	4	147	1	0	0	0	0	1	0	0	0	31	838	29	1	12969	1	ABCA13	7	48511183	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	16474	48511183	110627480	474	23728										
EGFR	1956	genome.wustl.edu	37	chr7	55231442	55231442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcagtgagccaagggagtttGtggagaactctgagtgcata	14	6	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:55231442G>C	ENST00000275493.2	+	14	1825	c.1648G>C	c.(1648-1650)Gtg>Ctg	p.V550L	EGFR_ENST00000442591.1_Missense_Mutation_p.V550L|EGFR_ENST00000342916.3_Missense_Mutation_p.V550L|EGFR_ENST00000455089.1_Missense_Mutation_p.V505L|EGFR_ENST00000344576.2_Missense_Mutation_p.V550L|EGFR_ENST00000454757.2_Missense_Mutation_p.V497L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	550					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGGGAGTTTGTGGAGAACTC	0.527		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													142	135	138					7																	55231442		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1648G>C	7.37:g.55231442G>C	ENSP00000275493:p.Val550Leu		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V550L	ENST00000275493.2	37	c.1648	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660175	0.29515	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.84	4.78	0.61160	Growth factor, receptor (1);	0.306795	0.35838	N	0.002943	T	0.30230	0.0758	L	0.31752	0.955	0.37039	D	0.897079	B;B;B;B	0.14012	0.002;0.0;0.004;0.009	B;B;B;B	0.15484	0.001;0.001;0.013;0.011	T	0.15983	-1.0418	10	0.36615	T	0.2	.	10.8836	0.46953	0.1583:0.0:0.8417:0.0	.	505;550;550;550	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	505;550;420;550;550;550;497;344	ENSP00000415559:V505L;ENSP00000342376:V550L;ENSP00000345973:V550L;ENSP00000275493:V550L;ENSP00000410031:V550L;ENSP00000395243:V497L	ENSP00000275493:V550L	V	+	1	0	EGFR	55198936	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	3.489000	0.53237	2.779000	0.95612	0.655000	0.94253	GTG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt		0.527	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	G	NM_005228		55231442	1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	0.997	C	C	55231442	G	C	55231442	3	2	147	1	0	0	0	0	1	0	0	0	4977	1377	48	4	1713	4	EGFR	7	55231442	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6720259	55231442	103907221	475	23729										
C7orf42	55069	genome.wustl.edu	37	chr7	66406858	66406858	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagctgatcagaataatgttCagcatcaaccccctggagaa	9	10	3	3	rs530968962		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:66406858C>T	ENST00000341567.4	+	2	261	c.6C>T	c.(4-6)ttC>ttT	p.F2F		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	2						integral component of membrane (GO:0016021)											GAATAATGTTCAGCATCAACC	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		18428	0		0	False		,,,				2504	0																0													110	105	107					7																	66406858		2203	4300	6503	SO:0001819	synonymous_variant	55069				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.6C>T	7.37:g.66406858C>T			Q53H07|Q96FR2	Silent	SNP	NULL	p.F2	ENST00000341567.4	37	c.6	CCDS5536.1	7																																																																																			TMEM248	-	NULL		0.478	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM248	HGNC	protein_coding	OTTHUMT00000251745.2	C	NM_017994		66406858	1	no_errors	ENST00000341567	ensembl	human	known	70_37	silent	SNP	0.052	T	T	66406858	C	T	66406858	2	4	147	1	0	0	0	0	0	0	0	1	2397	825	29	1		1	C7orf42	7	66406858	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	11175416	66406858	92731805	476	23730										
TMEM120A	83862	genome.wustl.edu	37	chr7	75621563	75621563	+	RNA	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccccctcggcctctgctggGagggagggtttgcatctgcg	16	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:75621563G>C	ENST00000338761.4	-	0	304				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral component of membrane (GO:0016021)											CCTCTGCTGGGAGGGAGGGTT	0.587																																																	0													55	61	59					7																	75621563		1928	4118	6046			83862			AF327923	CCDS64688.1	7q11.23	2009-11-06			ENSG00000189077	ENSG00000189077			21697	protein-coding gene	gene with protein product							Standard	NM_031925		Approved	TMPIT, NET29	uc003ued.3	Q9BXJ8	OTTHUMG00000156620		7.37:g.75621563G>C			Q86TE9|Q8N6P1	RNA	SNP	-	NULL	ENST00000338761.4	37	NULL		7																																																																																			TMEM120A	-	-		0.587	TMEM120A-001	KNOWN	basic	processed_transcript	TMEM120A	HGNC	polymorphic_pseudogene	OTTHUMT00000344834.4	G	NM_031925		75621563	-1	no_errors	ENST00000338761	ensembl	human	known	70_37	rna	SNP	0.111	C	C	75621563	G	C	75621563	1	2	147	0	1	0	0	0	0	0	0	0	16063	1161	41	1		1	TMEM120A	7	75621563	RNA	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9214705	75621563	83517100	477	23731										
STYXL1	51657	genome.wustl.edu	37	chr7	75634707	75634707	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatttcaatggggtatggctGaaatgcatccagttcctgaa	11	7	1	2	rs372639771		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:75634707G>C	ENST00000248600.1	-	6	811	c.469C>G	c.(469-471)Cag>Gag	p.Q157E	STYXL1_ENST00000451157.1_Missense_Mutation_p.Q157E|STYXL1_ENST00000360591.3_Nonsense_Mutation_p.S108*|STYXL1_ENST00000340062.5_Missense_Mutation_p.Q61E|STYXL1_ENST00000431581.1_Missense_Mutation_p.Q157E|STYXL1_ENST00000359697.3_Missense_Mutation_p.Q157E	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	157					intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GGGTATGGCTGAAATGCATCC	0.478																																																	0								G	GLU/GLN	0,4406		0,0,2203	113	102	106		469	3.1	0.9	7		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	STYXL1	NM_016086.2	29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	157/314	75634707	1,13005	2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.469C>G	7.37:g.75634707G>C	ENSP00000248600:p.Gln157Glu		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Nonsense_Mutation	SNP	superfamily_Rhodanese-like_dom	p.S108*	ENST00000248600.1	37	c.323	CCDS5580.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.44|16.44	3.122718|3.122718	0.56613|0.56613	0.0|0.0	1.16E-4|1.16E-4	ENSG00000127952|ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157|ENST00000360591	T;T;T;T;T;T|.	0.30714|.	1.52;1.52;1.52;1.52;1.52;1.52|.	5.13|5.13	3.14|3.14	0.36123|0.36123	Rhodanese-like (1);|.	0.492459|.	0.22324|.	N|.	0.061543|.	T|.	0.44222|.	0.1283|.	N|N	0.15975|0.15975	0.35|0.35	0.26783|0.26783	A|A	0.0304321|0.0304321	P;B;B;D;B|.	0.61697|.	0.459;0.02;0.423;0.99;0.011|.	B;B;B;D;B|.	0.72982|.	0.122;0.012;0.079;0.979;0.004|.	T|.	0.59595|.	-0.7425|.	9|.	0.22706|0.46703	T|T	0.39|0.11	-17.3288|-17.3288	14.6526|14.6526	0.68808|0.68808	0.0:0.2943:0.7057:0.0|0.0:0.2943:0.7057:0.0	.|.	157;157;157;61;157|.	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8|.	.;.;.;.;STYL1_HUMAN|.	E|X	157;157;61;157;157;112;157|108	ENSP00000248600:Q157E;ENSP00000352726:Q157E;ENSP00000343383:Q61E;ENSP00000392221:Q157E;ENSP00000406073:Q112E;ENSP00000411812:Q157E|.	ENSP00000248600:Q157E|ENSP00000353798:S108X	Q|S	-|-	1|2	0|0	STYXL1|STYXL1	75472643|75472643	0.541000|0.541000	0.26417|0.26417	0.858000|0.858000	0.33744|0.33744	0.810000|0.810000	0.45777|0.45777	0.337000|0.337000	0.19841|0.19841	1.119000|1.119000	0.41883|0.41883	0.557000|0.557000	0.71058|0.71058	CAG|TCA	STYXL1	-	NULL		0.478	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	G	NM_016086		75634707	-1	no_errors	ENST00000360591	ensembl	human	known	70_37	nonsense	SNP	0.968	C	C	75634707	G	C	75634707	3	2	147	1	0	0	0	0	1	0	0	0	15391	1299	45	1	488	1	STYXL1	7	75634707	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	13144	75634707	83503956	478	23732										
SRCRB4D	136853	genome.wustl.edu	37	chr7	76019544	76019544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgagcctcgccaggggctgcGagggcctggccacagcccag	16	15	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:76019544G>A	ENST00000275560.3	-	11	1907	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CAGGGGCTGCGAGGGCCTGGC	0.652																																																	0													43	41	42					7																	76019544		2202	4300	6502	SO:0001819	synonymous_variant	136853																														ENST00000275560.3:c.1560C>T	7.37:g.76019544G>A				Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L520	ENST00000275560.3	37	c.1560	CCDS5585.1	7																																																																																			SRCRB4D	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.652	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	G			76019544	-1	no_errors	ENST00000275560	ensembl	human	known	70_37	silent	SNP	0.992	A	A	76019544	G	A	76019544	2	1	147	1	0	0	0	0	0	0	0	1	15167	1045	37	1		1	SRCRB4D	7	76019544	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	384837	76019544	83119119	479	23733										
PCLO	27445	genome.wustl.edu	37	chr7	82544421	82544421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcccatagacagaggaaggtCtggaggaaggtctggacctg	16	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:82544421C>G	ENST00000333891.9	-	7	13218	c.12881G>C	c.(12880-12882)aGa>aCa	p.R4294T	PCLO_ENST00000423517.2_Missense_Mutation_p.R4294T|PCLO_ENST00000437081.1_Missense_Mutation_p.R1014T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						Agaggaaggtctggaggaagg	0.483																																																	0													18	19	19					7																	82544421		1942	4132	6074	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12881G>C	7.37:g.82544421C>G	ENSP00000334319:p.Arg4294Thr			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R4294T	ENST00000333891.9	37	c.12881	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139678	0.56936	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.20332	2.08;2.08	5.69	5.69	0.88448	.	.	.	.	.	T	0.48537	0.1505	M	0.65498	2.005	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.43702	-0.9375	9	0.87932	D	0	.	19.8105	0.96544	0.0:1.0:0.0:0.0	.	4225;4294;4294	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4294;4294;1014	ENSP00000334319:R4294T;ENSP00000388393:R4294T	ENSP00000334319:R4294T	R	-	2	0	PCLO	82382357	0.892000	0.30473	1.000000	0.80357	0.902000	0.53008	7.700000	0.84556	2.697000	0.92050	0.557000	0.71058	AGA	PCLO	-	NULL		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82544421	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.998	G	G	82544421	C	G	82544421	3	3	147	1	0	0	0	0	1	0	0	0	11607	913	32	1	2640	1	PCLO	7	82544421	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6524877	82544421	76594242	480	23734										
ABCB1	5243	genome.wustl.edu	37	chr7	87133740	87133740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcaggtgcggccttctctgGctttgtccagggcttcttgg	14	11	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:87133740G>C	ENST00000265724.3	-	29	4079	c.3662C>G	c.(3661-3663)gCc>gGc	p.A1221G	ABCB1_ENST00000543898.1_Missense_Mutation_p.A1157G|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1221	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCCTTCTCTGGCTTTGTCCAG	0.443																																																	0													89	86	87					7																	87133740		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3662C>G	7.37:g.87133740G>C	ENSP00000265724:p.Ala1221Gly		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A1221G	ENST00000265724.3	37	c.3662	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.267865	0.95399	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85339	-1.97;-1.97	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	L	0.31420	0.93	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.984;0.994	D	0.89788	0.3966	10	0.87932	D	0	-19.2467	19.0588	0.93078	0.0:0.0:1.0:0.0	.	1157;1221	B5AK60;P08183	.;MDR1_HUMAN	G	1002;1221;1157	ENSP00000265724:A1221G;ENSP00000444095:A1157G	ENSP00000265724:A1221G	A	-	2	0	ABCB1	86971676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.819000	0.99357	2.744000	0.94065	0.655000	0.94253	GCC	ABCB1	-	pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.443	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	G	NM_000927		87133740	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	1.000	C	C	87133740	G	C	87133740	3	2	147	1	0	0	0	0	1	0	0	0	40	1203	42	4	184	4	ABCB1	7	87133740	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4589319	87133740	72004923	481	23735										
ZNF804B	219578	genome.wustl.edu	37	chr7	88962775	88962775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taagaatggcagaaaggtatCatgcatgaagagtgctcttc	11	6	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:88962775C>T	ENST00000333190.4	+	4	1088	c.479C>T	c.(478-480)tCa>tTa	p.S160L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	160							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAGGTATCATGCATGAAG	0.438										HNSCC(36;0.09)																																							0													72	71	71					7																	88962775		2203	4299	6502	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.479C>T	7.37:g.88962775C>T	ENSP00000329638:p.Ser160Leu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S160L	ENST00000333190.4	37	c.479	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486328	0.26686	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.4	4.49	0.54785	.	0.542200	0.16404	N	0.215904	T	0.08980	0.0222	L	0.42245	1.32	0.09310	N	1	P	0.49090	0.919	B	0.41946	0.371	T	0.12682	-1.0538	10	0.72032	D	0.01	-5.3703	16.6796	0.85288	0.0:0.8598:0.1402:0.0	.	160	A4D1E1	Z804B_HUMAN	L	160	ENSP00000329638:S160L	ENSP00000329638:S160L	S	+	2	0	ZNF804B	88800711	0.004000	0.15560	0.160000	0.22671	0.431000	0.31685	1.924000	0.40065	2.822000	0.97130	0.650000	0.86243	TCA	ZNF804B	-	NULL		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88962775	1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	0.005	T	T	88962775	C	T	88962775	3	4	147	1	0	0	0	0	1	0	0	0	18201	838	29	1	493	1	ZNF804B	7	88962775	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1829035	88962775	70175888	482	23736										
FAM133B	257415	genome.wustl.edu	37	chr7	92206487	92206487	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacggttcttctttttctttCtccgttttccttgtttctta	4	10	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:92206487C>T	ENST00000445716.1	-	7	497	c.395G>A	c.(394-396)aGa>aAa	p.R132K	FAM133B_ENST00000427372.1_Missense_Mutation_p.R122K|FAM133B_ENST00000438306.1_Missense_Mutation_p.R122K	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	132	Lys-rich.|Ser-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTTTTCTTTCTCCGTTTTCC	0.254																																																	0													7	6	6					7																	92206487		1653	3659	5312	SO:0001583	missense	257415				CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.395G>A	7.37:g.92206487C>T	ENSP00000398401:p.Arg132Lys		B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	NULL	p.R132K	ENST00000445716.1	37	c.395	CCDS47640.1	7	.	.	.	.	.	.	.	.	.	.	C	6.557	0.471120	0.12461	.	.	ENSG00000234545	ENST00000438306;ENST00000445716;ENST00000427372;ENST00000494079	T;T;T	0.44881	0.91;0.98;0.91	5.4	2.44	0.29823	.	.	.	.	.	T	0.18130	0.0435	N	0.05574	-0.02	0.24591	N	0.993822	B	0.02656	0.0	B	0.04013	0.001	T	0.26608	-1.0098	9	0.02654	T	1	-1.1064	8.2595	0.31777	0.0:0.6624:0.0:0.3376	.	132	Q5BKY9	F133B_HUMAN	K	122;132;122;29	ENSP00000389783:R122K;ENSP00000398401:R132K;ENSP00000402843:R122K	ENSP00000402843:R122K	R	-	2	0	FAM133B	92044423	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	0.070000	0.14573	0.674000	0.31244	0.650000	0.86243	AGA	FAM133B	-	NULL		0.254	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133B	HGNC	protein_coding	OTTHUMT00000342181.2	C	NM_001040057		92206487	-1	no_errors	ENST00000445716	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92206487	C	T	92206487	3	4	147	1	0	0	0	0	1	0	0	0	5459	913	32	1	368	1	FAM133B	7	92206487	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3243712	92206487	66932176	483	23737										
SAMD9	54809	genome.wustl.edu	37	chr7	92734909	92734909	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acgatatggattactgaattCatcaaatggatatgatacac	7	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:92734909C>T	ENST00000379958.2	-	3	771	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	168						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTACTGAATTCATCAAATGGA	0.363																																																	0													145	145	145					7																	92734909		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.502G>A	7.37:g.92734909C>T	ENSP00000369292:p.Glu168Lys		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E168K	ENST00000379958.2	37	c.502	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	8.003	0.755748	0.15846	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14144	2.53;2.53	4.7	-0.536	0.11876	.	0.838469	0.10418	N	0.677088	T	0.07954	0.0199	L	0.36672	1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.44406	-0.9330	10	0.07175	T	0.84	.	4.8374	0.13471	0.0:0.2781:0.1732:0.5487	.	168	Q5K651	SAMD9_HUMAN	K	168	ENSP00000369292:E168K;ENSP00000414529:E168K	ENSP00000369292:E168K	E	-	1	0	SAMD9	92572845	0.000000	0.05858	0.663000	0.29738	0.936000	0.57629	-0.079000	0.11357	0.007000	0.14760	0.603000	0.83216	GAA	SAMD9	-	NULL		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92734909	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.260	T	T	92734909	C	T	92734909	3	4	147	1	0	0	0	0	1	0	0	0	13856	835	29	1	4271	1	SAMD9	7	92734909	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	528422	92734909	66403754	484	23738										
PPP1R9A	55607	genome.wustl.edu	37	chr7	94540329	94540329	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagagatccagcagagcaagGaacccgaggactccacatct	10	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:94540329G>T	ENST00000433881.1	+	2	1436	c.904G>T	c.(904-906)Gaa>Taa	p.E302*	PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E302*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	302					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCAGAGCAAGGAACCCGAGGA	0.478										HNSCC(28;0.073)																																							0													52	48	49					7																	94540329		2203	4300	6503	SO:0001587	stop_gained	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.904G>T	7.37:g.94540329G>T	ENSP00000398870:p.Glu302*		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E302*	ENST00000433881.1	37	c.904	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146453	0.77888	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.73	5.73	0.89815	.	0.612269	0.17048	N	0.189025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.655	0.45669	0.142:0.0:0.858:0.0	.	.	.	.	X	302	.	.	E	+	1	0	PPP1R9A	94378265	0.898000	0.30612	1.000000	0.80357	0.018000	0.09664	3.279000	0.51670	2.879000	0.98667	0.650000	0.86243	GAA	PPP1R9A	-	NULL		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94540329	1	no_errors	ENST00000289495	ensembl	human	known	70_37	nonsense	SNP	0.973	T	T	94540329	G	T	94540329	4	4	147	1	0	0	0	0	0	1	0	0	12405	1175	41	3	906	3	PPP1R9A	7	94540329	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1805420	94540329	64598334	485	23739										
OCM2	4951	genome.wustl.edu	37	chr7	97617814	97617814	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgactggctgacatcttggaGaggcctgacgtctggaagaa	14	8	2	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:97617814G>C	ENST00000257627.4	-	2	199	c.108C>G	c.(106-108)ctC>ctG	p.L36L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	36							calcium ion binding (GO:0005509)			lung(4)	4						ACATCTTGGAGAGGCCTGACG	0.453																																																	0													169	159	163					7																	97617814		2203	4300	6503	SO:0001819	synonymous_variant	4951			BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.108C>G	7.37:g.97617814G>C			P32930|Q6ISI5|Q75MW0	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin	p.L36	ENST00000257627.4	37	c.108	CCDS5653.1	7																																																																																			OCM2	-	prints_Parvalbumin		0.453	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM2	HGNC	protein_coding	OTTHUMT00000334188.1	G	NM_006188		97617814	-1	no_errors	ENST00000257627	ensembl	human	known	70_37	silent	SNP	0.999	C	C	97617814	G	C	97617814	2	2	147	1	0	0	0	0	0	0	0	1	10846	929	33	1		1	OCM2	7	97617814	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3077485	97617814	61520849	486	23740										
TECPR1	25851	genome.wustl.edu	37	chr7	97860411	97860411	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttccggctctcgcagcaaGacaggctgagcagggcgagc	14	14	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:97860411G>C	ENST00000447648.2	-	15	2443	c.2144C>G	c.(2143-2145)tCt>tGt	p.S715C	TECPR1_ENST00000379795.3_Missense_Mutation_p.S716C|TECPR1_ENST00000542604.1_Missense_Mutation_p.S645C|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	715	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCGCAGCAAGACAGGCTGAG	0.692																																																	0													19	25	23					7																	97860411		2127	4216	6343	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2144C>G	7.37:g.97860411G>C	ENSP00000404923:p.Ser715Cys		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S716C	ENST00000447648.2	37	c.2147	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832210	0.32421	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.34072	1.39;1.4;1.38	4.7	2.67	0.31697	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.122489	0.56097	D	0.000024	T	0.27900	0.0687	L	0.31664	0.95	0.37062	D	0.898121	B;B	0.21452	0.056;0.034	B;B	0.24848	0.056;0.012	T	0.24261	-1.0165	10	0.42905	T	0.14	-27.3874	13.4927	0.61405	0.0:0.2987:0.7013:0.0	.	645;715	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	C	715;716;645	ENSP00000404923:S715C;ENSP00000369121:S716C;ENSP00000441121:S645C	ENSP00000369121:S716C	S	-	2	0	TECPR1	97698347	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	3.284000	0.51708	1.061000	0.40601	0.462000	0.41574	TCT	TECPR1	-	smart_Beta-propeller_rpt_TECPR		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	G	NM_015395		97860411	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	missense	SNP	1.000	C	C	97860411	G	C	97860411	3	2	147	1	0	0	0	0	1	0	0	0	15773	942	33	1	1401	1	TECPR1	7	97860411	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	242597	97860411	61278252	487	23741										
TECPR1	25851	genome.wustl.edu	37	chr7	97862862	97862862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcccagtgggaggagccccaGagaggagaggctggtggtct	19	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:97862862G>C	ENST00000447648.2	-	11	1842	c.1543C>G	c.(1543-1545)Ctg>Gtg	p.L515V	TECPR1_ENST00000379795.3_Missense_Mutation_p.L515V|TECPR1_ENST00000542604.1_Missense_Mutation_p.L445V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	515					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGAGCCCCAGAGAGGAGAGG	0.677																																																	0													12	17	15					7																	97862862		1882	4109	5991	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1543C>G	7.37:g.97862862G>C	ENSP00000404923:p.Leu515Val		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.L515V	ENST00000447648.2	37	c.1543	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	1.612	-0.523782	0.04141	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30981	1.52;1.51;1.53	4.7	2.84	0.33178	.	0.633514	0.15270	N	0.271277	T	0.21509	0.0518	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.30870	0.126;0.298	B;B	0.27380	0.079;0.036	T	0.12451	-1.0547	10	0.38643	T	0.18	-9.4359	7.9443	0.29976	0.0849:0.0:0.754:0.1611	.	445;515	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	V	515;515;445	ENSP00000404923:L515V;ENSP00000369121:L515V;ENSP00000441121:L445V	ENSP00000369121:L515V	L	-	1	2	TECPR1	97700798	0.062000	0.20869	0.004000	0.12327	0.003000	0.03518	0.793000	0.26944	0.960000	0.38005	-0.521000	0.04368	CTG	TECPR1	-	NULL		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	G	NM_015395		97862862	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	missense	SNP	0.087	C	C	97862862	G	C	97862862	3	2	147	1	0	0	0	0	1	0	0	0	15773	933	33	1	2018	1	TECPR1	7	97862862	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2451	97862862	61275801	488	23742										
ARPC1A	10552	genome.wustl.edu	37	chr7	98951620	98951620	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttttgggcagctgatgtcaGagtttggtggcagtggcact	15	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:98951620G>C	ENST00000262942.5	+	6	713	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000432884.2_Missense_Mutation_p.E150Q	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	197					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGATGTCAGAGTTTGGTGG	0.577																																																	0													78	81	80					7																	98951620		2203	4300	6503	SO:0001583	missense	10552			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	703	protein-coding gene	gene with protein product	"actin binding protein (Schizosaccharomyces pombe sop2-like)", "SOP2-like protein"	604220	"actin related protein 2/3 complex, subunit 1A (41 kD)"			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.589G>C	7.37:g.98951620G>C	ENSP00000262942:p.Glu197Gln		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E197Q	ENST00000262942.5	37	c.589	CCDS5660.1	7	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612631	0.66672	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.65916	-0.18;-0.18	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.65677	2.01	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.32864	0.154;0.108	T	0.64558	-0.6379	10	0.40728	T	0.16	.	18.7488	0.91806	0.0:0.0:1.0:0.0	.	192;197	Q53GB6;Q92747	.;ARC1A_HUMAN	Q	150;197	ENSP00000408578:E150Q;ENSP00000262942:E197Q	ENSP00000262942:E197Q	E	+	1	0	ARPC1A	98789556	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.818000	0.99354	2.516000	0.84829	0.555000	0.69702	GAG	ARPC1A	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1		0.577	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	HGNC	protein_coding	OTTHUMT00000335908.1	G	NM_006409		98951620	1	no_errors	ENST00000262942	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98951620	G	C	98951620	3	2	147	1	0	0	0	0	1	0	0	0	970	943	33	1	607	1	ARPC1A	7	98951620	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1088758	98951620	60187043	489	23743										
PDAP1	11333	genome.wustl.edu	37	chr7	99001128	99001128	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctttttgctcctcttcttCctgtttcagaaatggacaac	5	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:99001128C>T	ENST00000350498.3	-	3	386	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTCTTCTTCCTGTTTCAGA	0.453																																																	0													104	90	95					7																	99001128		2203	4300	6503	SO:0001630	splice_region_variant	11333			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"PDGF associated protein"	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.106-1G>A	7.37:g.99001128C>T			D6W5S5|Q92906	Missense_Mutation	SNP	pfam_Casein_kinase_sb_PP28	p.E36K	ENST00000350498.3	37	c.106	CCDS5662.1	7	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029612	0.19512	.	.	ENSG00000106244	ENST00000350498	.	.	.	3.84	3.84	0.44239	.	0.413491	0.27258	N	0.020184	T	0.43700	0.1259	L	0.34521	1.04	0.43608	D	0.995973	P	0.34587	0.458	B	0.39152	0.292	T	0.25916	-1.0118	9	0.06236	T	0.91	-24.7228	11.5931	0.50957	0.0:1.0:0.0:0.0	.	36	Q13442	HAP28_HUMAN	K	36	.	ENSP00000222968:E36K	E	-	1	0	PDAP1	98839064	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.247000	0.51422	2.447000	0.82792	0.454000	0.30748	GAA	PDAP1	-	NULL		0.453	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDAP1	HGNC	protein_coding	OTTHUMT00000336388.2	C	NM_014891	Missense_Mutation	99001128	-1	no_errors	ENST00000350498	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99001128	C	T	99001128	5	4	147	1	0	0	0	0	0	0	1	0	11637	869	30	1	455	1	PDAP1	7	99001128	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	49508	99001128	60137535	490	23744										
ZKSCAN5	23660	genome.wustl.edu	37	chr7	99129642	99129642	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttcccacaccaaacaacatCaaaaaatctactccagcaca	2	15	2	0	rs200698568		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:99129642C>T	ENST00000394170.2	+	7	2541	c.2290C>T	c.(2290-2292)Caa>Taa	p.Q764*	ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.Q764*|ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.Q764*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	764					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CAAACAACATCAAAAAATCTA	0.408																																																	0													86	85	86					7																	99129642		2203	4300	6503	SO:0001587	stop_gained	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2290C>T	7.37:g.99129642C>T	ENSP00000377725:p.Gln764*		A4D280|D6W5S9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q764*	ENST00000394170.2	37	c.2290	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.063062	0.93898	.	.	ENSG00000196652	ENST00000326775;ENST00000451158;ENST00000394170	.	.	.	4.93	4.93	0.64822	.	0.298226	0.24776	N	0.035689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	16.0472	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	X	764	.	ENSP00000322872:Q764X	Q	+	1	0	ZKSCAN5	98967578	0.000000	0.05858	0.167000	0.22817	0.320000	0.28249	0.109000	0.15417	2.730000	0.93505	0.655000	0.94253	CAA	ZKSCAN5	-	pfscan_Znf_C2H2		0.408	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	C	NM_014569		99129642	1	no_errors	ENST00000326775	ensembl	human	known	70_37	nonsense	SNP	0.976	T	T	99129642	C	T	99129642	4	4	147	1	0	0	0	0	0	1	0	0	17720	827	29	1	2312	1	ZKSCAN5	7	99129642	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	128514	99129642	60009021	491	23745										
ZCWPW1	55063	genome.wustl.edu	37	chr7	100001352	100001352	+	Missense_Mutation	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccttttccaactcttcctCtttctcctttttctctaagc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100001352C>T	ENST00000398027.2	-	15	1622	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E339K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E339K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E460K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	459							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					aactcttcctctttctccttt	0.398																																																	0													93	90	91					7																	100001352		1818	4084	5902	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1375G>A	7.37:g.100001352C>T	ENSP00000381109:p.Glu459Lys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.E459K	ENST00000398027.2	37	c.1375	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.890|4.890	0.165422|0.165422	0.09339|0.09339	.|.	.|.	ENSG00000078487|ENSG00000233389	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336|ENST00000449355	T;T;T;T;T|.	0.60797|.	0.89;0.95;0.76;0.95;0.16|.	4.46|4.46	1.6|1.6	0.23607|0.23607	.|.	1.133510|.	0.06661|.	N|.	0.764508|.	T|T	0.34483|0.34483	0.0899|0.0899	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	P;B;B;B|.	0.43750|.	0.816;0.024;0.024;0.019|.	B;B;B;B|.	0.34590|.	0.186;0.005;0.005;0.011|.	T|T	0.23404|0.23404	-1.0189|-1.0189	9|5	.|.	.|.	.|.	1.7955|1.7955	6.11|6.11	0.20096|0.20096	0.0:0.6761:0.0:0.3239|0.0:0.6761:0.0:0.3239	.|.	460;420;459;339|.	B4DUQ2;B4DXS7;Q9H0M4;Q9H0M4-4|.	.;.;ZCPW1_HUMAN;.|.	K|F	459;339;460;339;182|140	ENSP00000381109:E459K;ENSP00000419187:E339K;ENSP00000354210:E460K;ENSP00000314880:E339K;ENSP00000418351:E182K|.	.|.	E|L	-|+	1|1	0|0	ZCWPW1|AC005071.3	99839288|99839288	0.011000|0.011000	0.17503|0.17503	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	0.852000|0.852000	0.27764|0.27764	0.585000|0.585000	0.29608|0.29608	0.655000|0.655000	0.94253|0.94253	GAG|CTT	ZCWPW1	-	NULL		0.398	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	C	NM_017984		100001352	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.000	T	T	100001352	C	T	100001352	3	4	147	1	0	0	0	0	1	0	0	0	17627	922	32	1	587	1	ZCWPW1	7	100001352	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	871710	100001352	59137311	492	23746	132	2								
ZCWPW1	55063	genome.wustl.edu	37	chr7	100001358	100001358	+	Missense_Mutation	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttccaactcttcctctttctCctttttctctaagcaggatc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100001358C>T	ENST00000398027.2	-	15	1616	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E337K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E337K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E458K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	457							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					tcctctttctcctttttctCT	0.378																																																	0													89	85	86					7																	100001358		1815	4084	5899	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1369G>A	7.37:g.100001358C>T	ENSP00000381109:p.Glu457Lys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.E457K	ENST00000398027.2	37	c.1369	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.030|6.030	0.373860|0.373860	0.11409|0.11409	.|.	.|.	ENSG00000078487|ENSG00000233389	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336|ENST00000449355	T;T;T;T;T|.	0.61158|.	0.83;0.89;0.65;0.89;0.13|.	4.69|4.69	1.92|1.92	0.25849|0.25849	.|.	1.286640|.	0.05149|.	N|.	0.495662|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.17852|.	0.005;0.024;0.024;0.008|.	B;B;B;B|.	0.12156|.	0.007;0.005;0.005;0.007|.	T|T	0.26292|0.26292	-1.0107|-1.0107	9|5	.|.	.|.	.|.	0.8622|0.8622	6.6275|6.6275	0.22839|0.22839	0.0:0.7082:0.0:0.2918|0.0:0.7082:0.0:0.2918	.|.	458;418;457;337|.	B4DUQ2;B4DXS7;Q9H0M4;Q9H0M4-4|.	.;.;ZCPW1_HUMAN;.|.	K|S	457;337;458;337;180|142	ENSP00000381109:E457K;ENSP00000419187:E337K;ENSP00000354210:E458K;ENSP00000314880:E337K;ENSP00000418351:E180K|.	.|.	E|P	-|+	1|1	0|0	ZCWPW1|AC005071.3	99839294|99839294	0.853000|0.853000	0.29707|0.29707	0.003000|0.003000	0.11579|0.11579	0.025000|0.025000	0.11179|0.11179	0.897000|0.897000	0.28390|0.28390	0.304000|0.304000	0.22809|0.22809	0.655000|0.655000	0.94253|0.94253	GAG|CCT	ZCWPW1	-	NULL		0.378	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	C	NM_017984		100001358	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.003	T	T	100001358	C	T	100001358	3	4	147	1	0	0	0	0	1	0	0	0	17627	864	30	1	593	1	ZCWPW1	7	100001358	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6	100001358	59137305	493	23747	132	2								
ZCWPW1	55063	genome.wustl.edu	37	chr7	100002656	100002656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgaatgctgatctgttctgCctcttgagccatcatcaggg	10	11	5	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100002656C>T	ENST00000398027.2	-	13	1478	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A291T|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A291T|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.A412T	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	411							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCTGTTCTGCCTCTTGAGCC	0.468																																																	0													171	170	171					7																	100002656		1957	4129	6086	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1231G>A	7.37:g.100002656C>T	ENSP00000381109:p.Ala411Thr		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.A411T	ENST00000398027.2	37	c.1231	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393207	0.83011	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000068	T	0.80939	0.4720	L	0.57536	1.79	0.42433	D	0.992687	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.80204	-0.1479	9	.	.	.	-14.5044	14.7245	0.69332	0.0:1.0:0.0:0.0	.	412;372;414;411;291	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	T	411;291;412;291;414	ENSP00000381109:A411T;ENSP00000419187:A291T;ENSP00000354210:A412T;ENSP00000314880:A291T	.	A	-	1	0	ZCWPW1	99840592	0.993000	0.37304	0.956000	0.39512	0.760000	0.43138	3.939000	0.56591	2.539000	0.85634	0.306000	0.20318	GCA	ZCWPW1	-	NULL		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	C	NM_017984		100002656	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.981	T	T	100002656	C	T	100002656	3	4	147	1	0	0	0	0	1	0	0	0	17627	739	26	4	739	4	ZCWPW1	7	100002656	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1298	100002656	59136007	494	23748										
GIGYF1	64599	genome.wustl.edu	37	chr7	100285844	100285844	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caccactcaggcccaaagttGagtgtctctgctgccatcgt	9	14	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100285844G>C	ENST00000275732.5	-	1	1227	c.18C>G	c.(16-18)ctC>ctG	p.L6L	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	6					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCCCAAAGTTGAGTGTCTCTG	0.607																																																	0													81	73	76					7																	100285844		2203	4300	6503	SO:0001819	synonymous_variant	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.18C>G	7.37:g.100285844G>C			Q6Y7W7|Q8WZ38	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.L6	ENST00000275732.5	37	c.18	CCDS34708.1	7																																																																																			GIGYF1	-	NULL		0.607	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	G	NM_022574		100285844	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	silent	SNP	0.998	C	C	100285844	G	C	100285844	2	2	147	1	0	0	0	0	0	0	0	1	6396	1277	45	1		1	GIGYF1	7	100285844	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	283188	100285844	58852819	495	23749										
MUC17	140453	genome.wustl.edu	37	chr7	100676823	100676823	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctgaggctagcaccctttCaacaactcctgttgacacca	6	14	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100676823C>G	ENST00000306151.4	+	3	2190	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	709	59 X approximate tandem repeats.|Ser-rich.				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)			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)					AGCACCCTTTCAACAACTCCT	0.502																																																	0													335	339	338					7																	100676823		2203	4300	6503	SO:0001587	stop_gained	140453			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.2126C>G	7.37:g.100676823C>G	ENSP00000302716:p.Ser709*		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S709*	ENST00000306151.4	37	c.2126	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511819	0.85389	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.33	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.7039	0.34343	0.0:1.0:0.0:0.0	.	.	.	.	X	709	.	ENSP00000302716:S709X	S	+	2	0	MUC17	100463543	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.159000	0.10056	1.080000	0.41073	0.395000	0.25975	TCA	MUC17	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100676823	1	no_errors	ENST00000306151	ensembl	human	known	70_37	nonsense	SNP	0.029	G	G	100676823	C	G	100676823	4	3	147	1	0	0	0	0	0	1	0	0	9997	838	29	1	2136	1	MUC17	7	100676823	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	390979	100676823	58461840	496	23750										
TRIM56	81844	genome.wustl.edu	37	chr7	100732201	100732201	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcactgaaacgcttctccctCaacggcgactacaagggcac	9	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100732201C>G	ENST00000306085.6	+	3	1905	c.1608C>G	c.(1606-1608)ctC>ctG	p.L536L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	536					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTTCTCCCTCAACGGCGACT	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)												0													52	59	57					7																	100732201		2113	4234	6347	SO:0001819	synonymous_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1608C>G	7.37:g.100732201C>G			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L536	ENST00000306085.6	37	c.1608	CCDS43625.1	7																																																																																			TRIM56	-	NULL		0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	C	NM_030961		100732201	1	no_errors	ENST00000306085	ensembl	human	known	70_37	silent	SNP	0.999	G	G	100732201	C	G	100732201	2	3	147	1	0	0	0	0	0	0	0	1	16561	813	29	1		1	TRIM56	7	100732201	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	55378	100732201	58406462	497	23751										
FOXP2	93986	genome.wustl.edu	37	chr7	114302201	114302201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagcagtatggactgtggatGaagtagaataccagaagcga	14	5	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:114302201G>A	ENST00000393494.2	+	14	2008	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	FOXP2_ENST00000408937.3_Missense_Mutation_p.E602K|FOXP2_ENST00000350908.4_Missense_Mutation_p.E577K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E392K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E485K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E594K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E556K|FOXP2_ENST00000393500.3_3'UTR			O15409	FOXP2_HUMAN	forkhead box P2	577					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACTGTGGATGAAGTAGAATA	0.388																																																	0													142	133	136					7																	114302201		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1729G>A	7.37:g.114302201G>A	ENSP00000377132:p.Glu577Lys		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E602K	ENST00000393494.2	37	c.1804	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261241	0.80246	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.67145	0.979;0.979;0.996;0.979;0.974	D;D;D;D;D	0.74023	0.973;0.982;0.977;0.973;0.969	D	0.98298	1.0517	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	576;594;392;577;602	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	K	577;602;594;577;554;485;392	ENSP00000377132:E577K;ENSP00000386200:E602K;ENSP00000385069:E594K;ENSP00000265436:E577K;ENSP00000377129:E485K;ENSP00000377130:E392K	ENSP00000265436:E577K	E	+	1	0	FOXP2	114089437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GAA	FOXP2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	G	NM_014491		114302201	1	no_errors	ENST00000408937	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114302201	G	A	114302201	3	1	147	1	0	0	0	0	1	0	0	0	6045	1291	45	1	1946	1	FOXP2	7	114302201	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	13570000	114302201	44836462	498	23752										
AASS	10157	genome.wustl.edu	37	chr7	121718000	121718000	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagatcaatcgttttatgttCtaaatgtccagaaggatgtc	8	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:121718000C>T	ENST00000393376.1	-	22	2649	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	AASS_ENST00000417368.2_Missense_Mutation_p.E852K|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	852	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTTTTATGTTCTAAATGTCCA	0.398																																																	0													275	289	284					7																	121718000		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2554G>A	7.37:g.121718000C>T	ENSP00000377040:p.Glu852Lys		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E852K	ENST00000393376.1	37	c.2554	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.347315	0.95807	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.43688	0.94;0.94	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	L	0.61218	1.895	0.80722	D	1	P	0.38677	0.642	P	0.47528	0.549	T	0.54118	-0.8341	10	0.52906	T	0.07	-28.3734	19.1282	0.93394	0.0:1.0:0.0:0.0	.	852	Q9UDR5	AASS_HUMAN	K	852	ENSP00000377040:E852K;ENSP00000403768:E852K	ENSP00000377040:E852K	E	-	1	0	AASS	121505236	1.000000	0.71417	0.927000	0.36925	0.926000	0.56050	7.329000	0.79170	2.614000	0.88457	0.585000	0.79938	GAA	AASS	-	pfam_Saccharopine_DH/HSpermid_syn		0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	C	NM_005763		121718000	-1	no_errors	ENST00000393376	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121718000	C	T	121718000	3	4	147	1	0	0	0	0	1	0	0	0	24	922	32	1	234	1	AASS	7	121718000	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7415799	121718000	37420663	499	23753										
FEZF1	389549	genome.wustl.edu	37	chr7	121942387	121942387	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcttctccccgctgtgggtCaacttgtggtttttgtaatt	10	9	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:121942387C>T	ENST00000442488.2	-	4	1159	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L	FEZF1_ENST00000331178.4_Silent_p.L360L|FEZF1_ENST00000427185.2_Silent_p.L314L|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	364					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGCTGTGGGTCAACTTGTGGT	0.443																																																	0													120	108	112					7																	121942387		2203	4300	6503	SO:0001819	synonymous_variant	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1092G>A	7.37:g.121942387C>T			A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L364	ENST00000442488.2	37	c.1092	CCDS34741.2	7																																																																																			FEZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	C	NM_001024613		121942387	-1	no_errors	ENST00000442488	ensembl	human	known	70_37	silent	SNP	1.000	T	T	121942387	C	T	121942387	2	4	147	1	0	0	0	0	0	0	0	1	5843	825	29	1		1	FEZF1	7	121942387	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	224387	121942387	37196276	500	23754										
RNF133	168433	genome.wustl.edu	37	chr7	122338231	122338231	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atccccatttggatttatttCttcatccccctcttttacta	2	13	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:122338231C>T	ENST00000340112.2	-	1	979	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	248					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGATTTATTTCTTCATCCCCC	0.388																																					Colon(198;1778 2057 7449 19869 45985)												0													168	159	162					7																	122338231		2203	4300	6503	SO:0001583	missense	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.742G>A	7.37:g.122338231C>T	ENSP00000344489:p.Glu248Lys		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E248K	ENST00000340112.2	37	c.742	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523290	0.64747	.	.	ENSG00000188050	ENST00000340112	T	0.68331	-0.32	5.53	5.53	0.82687	.	0.158174	0.40818	U	0.001016	T	0.81725	0.4883	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82853	-0.0252	10	0.59425	D	0.04	.	17.2415	0.87014	0.0:1.0:0.0:0.0	.	248	Q8WVZ7	RN133_HUMAN	K	248	ENSP00000344489:E248K	ENSP00000344489:E248K	E	-	1	0	RNF133	122125467	0.634000	0.27190	0.763000	0.31416	0.262000	0.26303	2.706000	0.47135	2.596000	0.87737	0.491000	0.48974	GAA	RNF133	-	NULL		0.388	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	C	NM_139175		122338231	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122338231	C	T	122338231	3	4	147	1	0	0	0	0	1	0	0	0	13469	922	32	1	392	1	RNF133	7	122338231	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	395844	122338231	36800432	501	23755										
RNF133	168433	genome.wustl.edu	37	chr7	122338412	122338412	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaagagaccaaatagtgattCatccagatgatgtgctttct	8	7	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:122338412C>T	ENST00000340112.2	-	1	798	c.561G>A	c.(559-561)atG>atA	p.M187I	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	187					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AATAGTGATTCATCCAGATGA	0.378																																					Colon(198;1778 2057 7449 19869 45985)												0													124	109	114					7																	122338412		2203	4300	6503	SO:0001583	missense	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.561G>A	7.37:g.122338412C>T	ENSP00000344489:p.Met187Ile		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M187I	ENST00000340112.2	37	c.561	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754601	0.31046	.	.	ENSG00000188050	ENST00000340112	T	0.13307	2.6	5.62	4.72	0.59763	.	0.302795	0.31156	U	0.008149	T	0.11537	0.0281	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.10109	-1.0644	10	0.27785	T	0.31	.	9.4601	0.38778	0.0:0.78:0.145:0.0749	.	187	Q8WVZ7	RN133_HUMAN	I	187	ENSP00000344489:M187I	ENSP00000344489:M187I	M	-	3	0	RNF133	122125648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.176000	0.31957	1.320000	0.45209	0.561000	0.74099	ATG	RNF133	-	NULL		0.378	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	C	NM_139175		122338412	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122338412	C	T	122338412	3	4	147	1	0	0	0	0	1	0	0	0	13469	826	29	1	573	1	RNF133	7	122338412	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	181	122338412	36800251	502	23756										
POT1	25913	genome.wustl.edu	37	chr7	124493039	124493039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcttactttttcagttgatCcacatcagagttactttctg	6	9	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:124493039C>T	ENST00000357628.3	-	10	1454	c.856G>A	c.(856-858)Gat>Aat	p.D286N	POT1_ENST00000393329.1_Missense_Mutation_p.D155N	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	286					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTCAGTTGATCCACATCAGAG	0.368																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													101	98	99					7																	124493039		2203	4300	6503	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.856G>A	7.37:g.124493039C>T	ENSP00000350249:p.Asp286Asn		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd	p.D286N	ENST00000357628.3	37	c.856	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676253	0.29783	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.44881	0.91;0.92	6.07	4.28	0.50868	Nucleic acid-binding, OB-fold-like (1);	0.406792	0.29451	N	0.012114	T	0.35595	0.0937	M	0.68317	2.08	0.33177	D	0.54902	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	10	0.21540	T	0.41	1.0807	5.7877	0.18343	0.0:0.6749:0.1605:0.1645	.	286	Q9NUX5	POTE1_HUMAN	N	286;155;286;286;286;285	ENSP00000350249:D286N;ENSP00000377002:D155N	ENSP00000265391:D285N	D	-	1	0	POT1	124280275	0.981000	0.34729	0.992000	0.48379	0.770000	0.43624	0.756000	0.26419	1.583000	0.49898	0.655000	0.94253	GAT	POT1	-	superfamily_NA-bd_OB-fold-like		0.368	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	C			124493039	-1	no_errors	ENST00000357628	ensembl	human	known	70_37	missense	SNP	0.985	T	T	124493039	C	T	124493039	3	4	147	1	0	0	0	0	1	0	0	0	12284	855	30	1	1088	1	POT1	7	124493039	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2154627	124493039	34645624	503	23757										
SMO	6608	genome.wustl.edu	37	chr7	128845562	128845562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctggctggcccagttcatgGatggtgcccgccgagagatc	15	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:128845562G>C	ENST00000249373.3	+	4	1139	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	287					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCAGTTCATGGATGGTGCCCG	0.592			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													63	62	63					7																	128845562		2203	4300	6503	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.859G>C	7.37:g.128845562G>C	ENSP00000249373:p.Asp287His		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.D287H	ENST00000249373.3	37	c.859	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551211	0.65311	.	.	ENSG00000128602	ENST00000249373	D	0.82081	-1.57	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.088091	0.85682	D	0.000000	D	0.89174	0.6640	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.88611	0.3156	10	0.48119	T	0.1	.	18.5223	0.90958	0.0:0.0:1.0:0.0	.	287	Q99835	SMO_HUMAN	H	287	ENSP00000249373:D287H	ENSP00000249373:D287H	D	+	1	0	SMO	128632798	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.992000	0.88273	2.620000	0.88729	0.491000	0.48974	GAT	SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.592	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	G	NM_005631		128845562	1	no_errors	ENST00000249373	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128845562	G	C	128845562	3	2	147	1	0	0	0	0	1	0	0	0	14830	1174	41	1	873	1	SMO	7	128845562	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4352523	128845562	30293101	504	23758										
TMEM209	84928	genome.wustl.edu	37	chr7	129821478	129821478	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catacctcctatctgtagctCtggacaacccattcgtctca	5	15	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:129821478C>G	ENST00000397622.2	-	9	1227	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	TMEM209_ENST00000473456.1_Missense_Mutation_p.E369Q|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.E368Q|TMEM209_ENST00000462753.1_Missense_Mutation_p.E368Q	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	369						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATCTGTAGCTCTGGACAACCC	0.398																																																	0													123	115	117					7																	129821478		1895	4134	6029	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1105G>C	7.37:g.129821478C>G	ENSP00000380747:p.Glu369Gln		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.E369Q	ENST00000397622.2	37	c.1105	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431424	0.83776	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.67953	2.075	0.58432	D	0.999999	D;P	0.61080	0.989;0.946	P;P	0.58266	0.836;0.721	T	0.33497	-0.9866	10	0.22109	T	0.4	-18.3425	17.9185	0.88959	0.0:1.0:0.0:0.0	.	369;369	Q96SK2-3;Q96SK2	.;TM209_HUMAN	Q	369;368;369;368	ENSP00000380747:E369Q;ENSP00000419697:E368Q;ENSP00000417258:E369Q;ENSP00000338388:E368Q	ENSP00000338388:E368Q	E	-	1	0	TMEM209	129608714	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.427000	0.80284	2.476000	0.83614	0.557000	0.71058	GAG	TMEM209	-	pfam_Cytochrome_B561-rel		0.398	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	C	NM_032842		129821478	-1	no_errors	ENST00000397622	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129821478	C	G	129821478	3	3	147	1	0	0	0	0	1	0	0	0	16164	922	32	1	608	1	TMEM209	7	129821478	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	975916	129821478	29317185	505	23759										
C7orf45	136263	genome.wustl.edu	37	chr7	129856149	129856149	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaggaatctgggaagttacCaaatgagcgaaaggcactgc	12	7	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:129856149C>T	ENST00000297819.3	+	3	625	c.574C>T	c.(574-576)Caa>Taa	p.Q192*		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	192						integral component of membrane (GO:0016021)											GGGAAGTTACCAAATGAGCGA	0.502																																																	0													113	113	113					7																	129856149		2203	4300	6503	SO:0001587	stop_gained	136263			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.574C>T	7.37:g.129856149C>T	ENSP00000297819:p.Gln192*			Nonsense_Mutation	SNP	NULL	p.Q192*	ENST00000297819.3	37	c.574	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033935	0.35893	.	.	ENSG00000165120	ENST00000297819	.	.	.	5.56	4.67	0.58626	.	0.322034	0.26863	N	0.022106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.5007	7.7081	0.28661	0.0:0.7383:0.1737:0.088	.	.	.	.	X	192	.	ENSP00000297819:Q192X	Q	+	1	0	C7orf45	129643385	0.065000	0.20965	0.130000	0.21974	0.276000	0.26787	1.106000	0.31098	1.314000	0.45095	0.491000	0.48974	CAA	C7orf45	-	NULL		0.502	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf45	HGNC	protein_coding	OTTHUMT00000349768.1	C	NM_145268		129856149	1	no_errors	ENST00000297819	ensembl	human	known	70_37	nonsense	SNP	0.117	T	T	129856149	C	T	129856149	4	4	147	1	0	0	0	0	0	1	0	0	2400	595	21	4	584	4	C7orf45	7	129856149	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	34671	129856149	29282514	506	23760										
MKLN1	4289	genome.wustl.edu	37	chr7	131155656	131155656	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctgaaatatttacaaaatGatctttatataactgtggat	5	5	2	2	rs550493200		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:131155656G>T	ENST00000352689.6	+	16	2024	c.1984G>T	c.(1984-1986)Gat>Tat	p.D662Y	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.D570Y	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	662					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTTACAAAATGATCTTTATAT	0.323																																																	0													69	73	72					7																	131155656		2203	4294	6497	SO:0001583	missense	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1984G>T	7.37:g.131155656G>T	ENSP00000323527:p.Asp662Tyr		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.D662Y	ENST00000352689.6	37	c.1984	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745800	0.89663	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.31247	1.5;1.5	5.87	5.87	0.94306	.	0.045312	0.85682	N	0.000000	T	0.48607	0.1509	L	0.48642	1.525	0.80722	D	1	P;D;D;D	0.63880	0.935;0.981;0.981;0.993	P;P;P;P	0.60682	0.556;0.592;0.592;0.878	T	0.39121	-0.9629	10	0.72032	D	0.01	-18.3873	19.2041	0.93723	0.0:0.0:1.0:0.0	.	662;639;570;152	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	Y	570;662;152	ENSP00000398094:D570Y;ENSP00000323527:D662Y	ENSP00000323527:D662Y	D	+	1	0	MKLN1	130806196	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	9.124000	0.94394	2.784000	0.95788	0.549000	0.68633	GAT	MKLN1	-	NULL		0.323	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	G	NM_013255		131155656	1	no_errors	ENST00000352689	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131155656	G	T	131155656	3	4	147	1	0	0	0	0	1	0	0	0	9626	1290	45	3	2079	3	MKLN1	7	131155656	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1299507	131155656	27983007	507	23761										
PLXNA4	91584	genome.wustl.edu	37	chr7	131853272	131853272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcaggaacaccttgttgttGatgagctgggcgaagagctt	14	7	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:131853272G>A	ENST00000359827.3	-	22	5039	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I	PLXNA4_ENST00000321063.4_Silent_p.I1359I			Q9HCM2	PLXA4_HUMAN	plexin A4	1359					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTTGTTGTTGATGAGCTGGG	0.597																																																	0													89	92	91					7																	131853272		2203	4300	6503	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4077C>T	7.37:g.131853272G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I1359	ENST00000359827.3	37	c.4077	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	G	NM_181775		131853272	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131853272	G	A	131853272	2	1	147	1	0	0	0	0	0	0	0	1	12146	1280	45	1		1	PLXNA4	7	131853272	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	697616	131853272	27285391	508	23762										
CHRM2	1129	genome.wustl.edu	37	chr7	136700266	136700266	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccagcaagagcaggataaaGaaggacaagaaggagcctgt	14	7	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:136700266G>C	ENST00000445907.2	+	3	1182	c.654G>C	c.(652-654)aaG>aaC	p.K218N	hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.K218N|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.K218N|CHRM2_ENST00000397608.3_Missense_Mutation_p.K218N|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.K218N|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.K218N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	218					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCAGGATAAAGAAGGACAAGA	0.483																																																	0													50	45	47					7																	136700266		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.654G>C	7.37:g.136700266G>C	ENSP00000399745:p.Lys218Asn		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.K218N	ENST00000445907.2	37	c.654	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345041	0.61073	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.443345	0.25238	N	0.032114	T	0.51873	0.1700	M	0.72479	2.2	0.58432	D	0.999993	P	0.52170	0.951	P	0.50754	0.649	T	0.57266	-0.7841	10	0.66056	D	0.02	-1.1811	12.6364	0.56685	0.1105:0.0:0.8895:0.0	.	218	P08172	ACM2_HUMAN	N	218	ENSP00000399745:K218N;ENSP00000415386:K218N;ENSP00000319984:K218N;ENSP00000380733:K218N;ENSP00000384937:K218N;ENSP00000384401:K218N	ENSP00000319984:K218N	K	+	3	2	CHRM2	136350806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.025000	0.57225	2.541000	0.85698	0.655000	0.94253	AAG	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700266	1	no_errors	ENST00000320658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136700266	G	C	136700266	3	2	147	1	0	0	0	0	1	0	0	0	3382	933	33	1	656	1	CHRM2	7	136700266	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4846994	136700266	22438397	509	23763										
MGAM	8972	genome.wustl.edu	37	chr7	141727450	141727450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccctcctactgggcgcttgGatttcacctcagtcgttacg	9	14	2	0	rs191269779	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:141727450G>C	ENST00000549489.2	+	10	1231	c.1136G>C	c.(1135-1137)gGa>gCa	p.G379A	MGAM_ENST00000475668.2_Missense_Mutation_p.G379A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	379	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGCGCTTGGATTTCACCTC	0.438																																																	0													64	63	63					7																	141727450		1859	4094	5953	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1136G>C	7.37:g.141727450G>C	ENSP00000447378:p.Gly379Ala		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.G379A	ENST00000549489.2	37	c.1136	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854537	0.91355	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.98207	-4.79	5.55	5.55	0.83447	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000046	D	0.99036	0.9670	M	0.86420	2.815	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	379	O43451	MGA_HUMAN	A	379;379;256	ENSP00000447378:G379A	ENSP00000316431:G256A	G	+	2	0	MGAM	141373919	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.176000	0.94839	2.885000	0.99019	0.655000	0.94253	GGA	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141727450	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141727450	G	C	141727450	3	2	147	1	0	0	0	0	1	0	0	0	9564	1174	41	1	1170	1	MGAM	7	141727450	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5027184	141727450	17411213	510	23764										
ZYX	7791	genome.wustl.edu	37	chr7	143080071	143080071	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacagttccatgttcagcccCagccccagcccaagcctcag	7	19	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:143080071C>T	ENST00000322764.5	+	5	1024	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	ZYX_ENST00000392910.2_Nonsense_Mutation_p.Q70*|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000449423.2_Nonsense_Mutation_p.Q140*	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	227					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGTTcagccccagccccagcc	0.652																																																	0													78	90	86					7																	143080071		2203	4300	6503	SO:0001587	stop_gained	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.679C>T	7.37:g.143080071C>T	ENSP00000324422:p.Gln227*		A4D2G6|Q6I9S4	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q227*	ENST00000322764.5	37	c.679	CCDS5883.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.617778	0.96649	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	.	.	.	3.97	3.97	0.46021	.	6.995990	0.01754	U	0.030081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2247	0.65850	0.0:1.0:0.0:0.0	.	.	.	.	X	227;195;140;70	.	ENSP00000324422:Q227X	Q	+	1	0	ZYX	142790193	0.001000	0.12720	0.102000	0.21198	0.148000	0.21650	-0.216000	0.09266	1.748000	0.51833	0.561000	0.74099	CAG	ZYX	-	NULL		0.652	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYX	HGNC	protein_coding	OTTHUMT00000156296.2	C	NM_003461		143080071	1	no_errors	ENST00000322764	ensembl	human	known	70_37	nonsense	SNP	0.756	T	T	143080071	C	T	143080071	4	4	147	1	0	0	0	0	0	1	0	0	18284	595	21	4	693	4	ZYX	7	143080071	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1352621	143080071	16058592	511	23765										
EZH2	2146	genome.wustl.edu	37	chr7	148506428	148506428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catagcagtttggatttaccGaatgatttgcaaaacgaatt	8	6	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:148506428G>A	ENST00000460911.1	-	18	2157	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	EZH2_ENST00000483967.1_Missense_Mutation_p.S681L|EZH2_ENST00000476773.1_Missense_Mutation_p.S639L|EZH2_ENST00000320356.2_Missense_Mutation_p.S695L|EZH2_ENST00000541220.1_Missense_Mutation_p.S639L|EZH2_ENST00000350995.2_Missense_Mutation_p.S651L|EZH2_ENST00000478654.1_Missense_Mutation_p.S639L			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	690	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGGATTTACCGAATGATTTGC	0.388			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													133	129	130					7																	148506428		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2069C>T	7.37:g.148506428G>A	ENSP00000419711:p.Ser690Leu		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.S695L	ENST00000460911.1	37	c.2084	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	g	34	5.339715	0.95783	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94897	-3.55;-2.45;-2.45;-2.45;-3.55;-3.55;-2.45	5.31	5.31	0.75309	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.997;0.999	D;D;D;D;D	0.91635	0.946;0.977;0.999;0.928;0.994	D	0.98900	1.0776	10	0.66056	D	0.02	.	18.9955	0.92810	0.0:0.0:1.0:0.0	.	681;639;690;651;695	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	L	639;695;690;651;639;639;681	ENSP00000417062:S639L;ENSP00000320147:S695L;ENSP00000419711:S690L;ENSP00000223193:S651L;ENSP00000443219:S639L;ENSP00000419050:S639L;ENSP00000419856:S681L	ENSP00000320147:S695L	S	-	2	0	EZH2	148137361	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.553000	0.98118	2.478000	0.83669	0.655000	0.94253	TCG	EZH2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	G	NM_004456		148506428	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148506428	G	A	148506428	3	1	147	1	0	0	0	0	1	0	0	0	5346	1059	37	1	183	1	EZH2	7	148506428	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5426357	148506428	10632235	512	23766										
SSPO	23145	genome.wustl.edu	37	chr7	149523307	149523307	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaggggggtcctggggtggCaccatgccaggcccaggaca	18	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:149523307C>T	ENST00000378016.2	+	0	14393							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGGGTGGCACCATGCCAG	0.657																																																	0													33	41	39					7																	149523307		1970	4141	6111			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523307C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149523307	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.000	T	T	149523307	C	T	149523307	1	4	147	0	1	0	0	0	0	0	0	0	15219	710	25	4		4	SSPO	7	149523307	RNA	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1016879	149523307	9615356	513	23767										
UBE3C	9690	genome.wustl.edu	37	chr7	157060420	157060420	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtaaacttctctatgcgattGaatgtgccgctggctttgag	11	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:157060420G>C	ENST00000348165.5	+	23	3583	c.3223G>C	c.(3223-3225)Gaa>Caa	p.E1075Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1075	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTATGCGATTGAATGTGCCGC	0.567																																																	0													121	113	116					7																	157060420		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3223G>C	7.37:g.157060420G>C	ENSP00000309198:p.Glu1075Gln		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E1075Q	ENST00000348165.5	37	c.3223	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523012	0.27211	.	.	ENSG00000009335	ENST00000348165	T	0.58940	0.3	5.22	5.22	0.72569	HECT (4);	0.047513	0.85682	D	0.000000	T	0.49729	0.1574	N	0.17631	0.505	0.80722	D	1	B;B	0.33379	0.41;0.41	B;B	0.42882	0.401;0.336	T	0.38585	-0.9654	10	0.08179	T	0.78	-23.8765	18.7943	0.91988	0.0:0.0:1.0:0.0	.	1075;928	Q15386;B4DHJ9	UBE3C_HUMAN;.	Q	1075	ENSP00000309198:E1075Q	ENSP00000309198:E1075Q	E	+	1	0	UBE3C	156753181	1.000000	0.71417	0.622000	0.29159	0.489000	0.33432	9.267000	0.95665	2.428000	0.82296	0.650000	0.86243	GAA	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.567	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157060420	1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157060420	G	C	157060420	3	2	147	1	0	0	0	0	1	0	0	0	16912	1291	45	1	3313	1	UBE3C	7	157060420	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7537113	157060420	2078243	514	23768										
ADAM7	8756	genome.wustl.edu	37	chr8	24321394	24321394	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctgtctgccctctttttcaGggagttcctaggctcaaatt	8	12	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:24321394G>A	ENST00000175238.6	+	4	316		c.e4-1		RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site|ADAM7_ENST00000441335.2_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTCTTTTTCAGGGAGTTCCTA	0.418																																																	0													122	112	115					8																	24321394		2203	4300	6503	SO:0001630	splice_region_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.234-1G>A	8.37:g.24321394G>A			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e4-1	ENST00000175238.6	37	c.234-1	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387314	0.61956	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9823	0.64313	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24377284	1.000000	0.71417	0.950000	0.38849	0.817000	0.46193	4.082000	0.57635	2.762000	0.94881	0.563000	0.77884	.	ADAM7	-	-		0.418	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817	Intron	24321394	1	no_errors	ENST00000175238	ensembl	human	known	70_37	splice_site	SNP	0.997	A	A	24321394	G	A	24321394	5	1	147	1	0	0	0	0	0	0	1	0	251	1014	35	4	247	4	ADAM7	8	24321394	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		24321394	122042628	515	23769										
EBF2	64641	genome.wustl.edu	37	chr8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcagcaatgtctgcggctcGcttcaaaatgatgtcctaca	8	11	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:25718727G>A	ENST00000520164.1	-	13	1717	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	EBF2_ENST00000535548.1_Nonsense_Mutation_p.R125*|EBF2_ENST00000408929.3_Nonsense_Mutation_p.R246*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	394					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													115	121	119					8																	25718727		1993	4171	6164	SO:0001587	stop_gained	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1180C>T	8.37:g.25718727G>A	ENSP00000430241:p.Arg394*		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.R394*	ENST00000520164.1	37	c.1180	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.006618	0.98607	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3669	12.9768	0.58542	0.0:0.0:0.7173:0.2827	.	.	.	.	X	394;246;125	.	ENSP00000386178:R246X	R	-	1	2	EBF2	25774644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.032000	0.49736	2.587000	0.87381	0.655000	0.94253	CGA	EBF2	-	NULL		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	G	NM_022659		25718727	-1	no_errors	ENST00000520164	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	25718727	G	A	25718727	4	1	147	1	0	0	0	0	0	1	0	0	4891	1095	38	2	563	2	EBF2	8	25718727	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1397333	25718727	120645295	516	23770										
PURG	29942	genome.wustl.edu	37	chr8	30890282	30890282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggccgccgccgcctccccttCgcctggctctttccatcttc	8	21	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:30890282C>T	ENST00000475541.1	-	1	949	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R6Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	6						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		gccTCCCCTTCGCCTGGCTCT	0.632																																																	0													3	4	4					8																	30890282		1756	3745	5501	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.17G>A	8.37:g.30890282C>T	ENSP00000418721:p.Arg6Gln		Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R6Q	ENST00000475541.1	37	c.17	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495642	0.44352	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.25912	1.77;1.81	3.96	1.93	0.25924	.	1.125970	0.07014	N	0.825579	T	0.11196	0.0273	N	0.08118	0	0.23174	N	0.998177	B;P	0.35700	0.249;0.516	B;B	0.25614	0.019;0.062	T	0.12372	-1.0550	10	0.87932	D	0	.	5.2878	0.15710	0.0:0.6278:0.2002:0.172	.	6;6	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	Q	6	ENSP00000345168:R6Q;ENSP00000418721:R6Q	ENSP00000345168:R6Q	R	-	2	0	PURG	31009824	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	2.431000	0.44775	1.922000	0.55676	0.306000	0.20318	CGA	PURG	-	NULL		0.632	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	C	NM_013357		30890282	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	missense	SNP	0.996	T	T	30890282	C	T	30890282	3	4	147	1	0	0	0	0	1	0	0	0	12859	884	31	1	1139	1	PURG	8	30890282	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5171555	30890282	115473740	517	23771										
UNC5D	137970	genome.wustl.edu	37	chr8	35608103	35608103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catacctttcccaacaggaaGtgatgtcagtggaagatgaa	10	8	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:35608103G>A	ENST00000404895.2	+	13	2267	c.1939G>A	c.(1939-1941)Gtg>Atg	p.V647M	UNC5D_ENST00000287272.2_Missense_Mutation_p.V578M|UNC5D_ENST00000449677.1_Missense_Mutation_p.V223M|UNC5D_ENST00000420357.1_Missense_Mutation_p.V580M|UNC5D_ENST00000453357.2_Missense_Mutation_p.V642M|UNC5D_ENST00000416672.1_Missense_Mutation_p.V652M	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	647					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)				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)		CCAACAGGAAGTGATGTCAGT	0.413																																																	0													177	148	158					8																	35608103		2203	4300	6503	SO:0001583	missense	137970			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.1939G>A	8.37:g.35608103G>A	ENSP00000385143:p.Val647Met		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.V647M	ENST00000404895.2	37	c.1939	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020448	0.75275	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.58940	0.32;0.73;0.72;0.33;0.3;2.2	5.9	5.9	0.94986	.	0.113021	0.64402	D	0.000008	T	0.72558	0.3475	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.56746	0.961;0.977;0.961	P;P;P	0.58873	0.621;0.847;0.708	T	0.75590	-0.3265	10	0.87932	D	0	-18.6973	13.4767	0.61312	0.0712:0.0:0.9288:0.0	.	223;642;647	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	M	647;580;578;652;642;223	ENSP00000385143:V647M;ENSP00000392739:V580M;ENSP00000287272:V578M;ENSP00000412652:V652M;ENSP00000394303:V642M;ENSP00000397211:V223M	ENSP00000287272:V578M	V	+	1	0	UNC5D	35727645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.444000	0.73452	2.806000	0.96561	0.655000	0.94253	GTG	UNC5D	-	NULL		0.413	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35608103	1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35608103	G	A	35608103	3	1	147	1	0	0	0	0	1	0	0	0	17026	1029	36	4	1989	4	UNC5D	8	35608103	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4717821	35608103	110755919	518	23772										
BRF2	55290	genome.wustl.edu	37	chr8	37704661	37704661	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaatgttggtggcaactgcaGaactcgacaaaggtctctca	10	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:37704661G>T	ENST00000220659.6	-	3	367	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.L83M	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GGCAACTGCAGAACTCGACAA	0.532																																																	0													107	102	103					8																	37704661		2203	4300	6503	SO:0001583	missense	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.247C>A	8.37:g.37704661G>T	ENSP00000220659:p.Leu83Met		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB	p.L83M	ENST00000220659.6	37	c.247	CCDS6098.1	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458795	0.84317	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.69	3.9	0.45041	Cyclin-like (3);	0.072669	0.56097	D	0.000021	T	0.64505	0.2604	M	0.61703	1.905	0.80722	D	1	D	0.63046	0.992	P	0.53549	0.729	T	0.64976	-0.6280	9	0.49607	T	0.09	.	12.2551	0.54619	0.1376:0.0:0.8624:0.0	.	83	Q9HAW0	BRF2_HUMAN	M	83;60;83	.	ENSP00000220659:L83M	L	-	1	2	BRF2	37823819	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	4.872000	0.63050	0.760000	0.33108	0.557000	0.71058	CTG	BRF2	-	superfamily_Cyclin-like		0.532	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF2	HGNC	protein_coding	OTTHUMT00000376811.2	G	NM_018310		37704661	-1	no_errors	ENST00000220659	ensembl	human	known	70_37	missense	SNP	0.999	T	T	37704661	G	T	37704661	3	4	147	1	0	0	0	0	1	0	0	0	1514	933	33	3	1020	3	BRF2	8	37704661	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2096558	37704661	108659361	519	23773										
CHRNB3	1142	genome.wustl.edu	37	chr8	42585773	42585773	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agttacgctggaatcctgatGattatggtgggatccattcc	11	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:42585773G>A	ENST00000289957.2	+	4	414	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	96					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	GAATCCTGATGATTATGGTGG	0.358																																																	0													111	101	104					8																	42585773		2203	4300	6503	SO:0001583	missense	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.286G>A	8.37:g.42585773G>A	ENSP00000289957:p.Asp96Asn		Q15827	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D96N	ENST00000289957.2	37	c.286	CCDS6134.1	8	.	.	.	.	.	.	.	.	.	.	g	16.73	3.204022	0.58234	.	.	ENSG00000147432	ENST00000289957	T	0.80033	-1.33	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.314966	0.37955	N	0.001862	T	0.74741	0.3756	L	0.34521	1.04	0.35980	D	0.835951	B	0.06786	0.001	B	0.11329	0.006	T	0.74887	-0.3511	10	0.59425	D	0.04	.	18.1945	0.89817	0.0:0.0:1.0:0.0	.	96	Q05901	ACHB3_HUMAN	N	96	ENSP00000289957:D96N	ENSP00000289957:D96N	D	+	1	0	CHRNB3	42704930	1.000000	0.71417	0.994000	0.49952	0.900000	0.52787	4.834000	0.62774	2.651000	0.90000	0.650000	0.86243	GAT	CHRNB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.358	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	G			42585773	1	no_errors	ENST00000289957	ensembl	human	known	70_37	missense	SNP	0.998	A	A	42585773	G	A	42585773	3	1	147	1	0	0	0	0	1	0	0	0	3397	1290	45	1	300	1	CHRNB3	8	42585773	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4881112	42585773	103778249	520	23774										
PRKDC	5591	genome.wustl.edu	37	chr8	48794620	48794620	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctggtttgctcgctccctGaagctctggtctaacatgcc	9	13	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:48794620G>A	ENST00000314191.2	-	38	4868	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	PRKDC_ENST00000338368.3_Silent_p.F1604F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1605					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTCGCTCCCTGAAGCTCTGGT	0.433								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													139	131	134					8																	48794620		1905	4131	6036	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4812C>T	8.37:g.48794620G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F1604	ENST00000314191.2	37	c.4812		8																																																																																			PRKDC	-	superfamily_ARM-type_fold		0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48794620	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.997	A	A	48794620	G	A	48794620	2	1	147	1	0	0	0	0	0	0	0	1	12548	1281	45	1		1	PRKDC	8	48794620	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6208847	48794620	97569402	521	23775										
C8orf46	254778	genome.wustl.edu	37	chr8	67428140	67428140	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctttagatccagacatctCaagaagatgactgaagagta	8	7	2	7			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:67428140C>G	ENST00000305454.3	+	6	894	c.453C>G	c.(451-453)ctC>ctG	p.L151L	C8orf46_ENST00000521495.1_Missense_Mutation_p.Q119E|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q131E	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	151										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCAGACATCTCAAGAAGATGA	0.547																																																	0													87	82	83					8																	67428140		2203	4300	6503	SO:0001819	synonymous_variant	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.453C>G	8.37:g.67428140C>G			B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.Q131E	ENST00000305454.3	37	c.391	CCDS6191.2	8	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385101	0.42308	.	.	ENSG00000169085	ENST00000521495;ENST00000522977	.	.	.	5.13	3.3	0.37823	.	.	.	.	.	T	0.47801	0.1465	.	.	.	0.50171	D	0.999856	B	0.11235	0.004	B	0.11329	0.006	T	0.42531	-0.9446	7	0.87932	D	0	-8.5383	8.7928	0.34861	0.0:0.7682:0.1502:0.0816	.	131	Q8TAG6-2	.	E	119;131	.	ENSP00000430501:Q119E	Q	+	1	0	C8orf46	67590694	0.985000	0.35326	0.987000	0.45799	0.988000	0.76386	0.482000	0.22276	0.536000	0.28733	0.563000	0.77884	CAA	C8orf46	-	NULL		0.547	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	C	NM_152765		67428140	1	no_errors	ENST00000522977	ensembl	human	novel	70_37	missense	SNP	0.571	G	G	67428140	C	G	67428140	2	3	147	1	0	0	0	0	0	0	0	1	2436	813	29	1		1	C8orf46	8	67428140	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	18633520	67428140	78935882	522	23776										
TRAM1	23471	genome.wustl.edu	37	chr8	71520420	71520420	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggggctcttggtgcttttCttgcgaatcgccatggtggg	17	8	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:71520420C>G	ENST00000262213.2	-	1	184	c.15G>C	c.(13-15)aaG>aaC	p.K5N	TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|RP11-382J12.1_ENST00000499227.2_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	5					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGGTGCTTTTCTTGCGAATCG	0.667																																					Ovarian(85;984 1334 5116 12432 40638)												0													67	70	69					8																	71520420		2203	4300	6503	SO:0001583	missense	23471			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.15G>C	8.37:g.71520420C>G	ENSP00000262213:p.Lys5Asn		B4E0K2	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.K5N	ENST00000262213.2	37	c.15	CCDS6207.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000067167	ENST00000262213	T	0.38560	1.13	5.09	5.09	0.68999	.	0.104368	0.64402	D	0.000006	T	0.63931	0.2553	M	0.79475	2.455	0.80722	D	1	D	0.53151	0.958	P	0.59357	0.856	T	0.69499	-0.5129	10	0.87932	D	0	-3.571	18.0722	0.89413	0.0:1.0:0.0:0.0	.	5	Q15629	TRAM1_HUMAN	N	5	ENSP00000262213:K5N	ENSP00000262213:K5N	K	-	3	2	TRAM1	71682974	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.610000	0.46325	2.355000	0.79922	0.563000	0.77884	AAG	TRAM1	-	pirsf_Translocation_assoc_membrane		0.667	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1	C	NM_014294		71520420	-1	no_errors	ENST00000262213	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71520420	C	G	71520420	3	3	147	1	0	0	0	0	1	0	0	0	16482	912	32	1	1153	1	TRAM1	8	71520420	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4092280	71520420	74843602	523	23777										
RUNX1T1	862	genome.wustl.edu	37	chr8	92983038	92983038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agacacggccttctgcagctCcgtcatcgcctggcgcttca	10	16	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:92983038C>T	ENST00000523629.1	-	11	1841	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E426K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E426K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E463K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E474K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E426K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E436K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E436K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	463					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTGCAGCTCCGTCATCGCC	0.592																																																	0													73	58	63					8																	92983038		2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1387G>A	8.37:g.92983038C>T	ENSP00000428543:p.Glu463Lys		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.E474K	ENST00000523629.1	37	c.1420	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	C	37	5.983615	0.97173	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.992	D;D;D;D	0.91635	0.967;0.999;0.994;0.973	T	0.74272	-0.3719	10	0.87932	D	0	-16.7685	20.2182	0.98305	0.0:1.0:0.0:0.0	.	474;426;463;436	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	K	463;436;463;426;426;426;474;436	ENSP00000428543:E463K;ENSP00000379520:E436K;ENSP00000265814:E463K;ENSP00000353504:E426K;ENSP00000390137:E426K;ENSP00000428742:E426K;ENSP00000402257:E474K;ENSP00000430728:E436K	ENSP00000265814:E463K	E	-	1	0	RUNX1T1	93052214	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GAG	RUNX1T1	-	prints_ETO		0.592	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	C	NM_004349, NM_175635		92983038	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92983038	C	T	92983038	3	4	147	1	0	0	0	0	1	0	0	0	13777	864	30	1	435	1	RUNX1T1	8	92983038	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	21462618	92983038	53380984	524	23778										
PGCP	10404	genome.wustl.edu	37	chr8	97892112	97892112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggaagatgcagaaatgatgtCaagaatggcttctcatggga	13	5	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:97892112C>T	ENST00000220763.5	+	4	938	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	243					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GAAATGATGTCAAGAATGGCT	0.453																																																	0													201	197	198					8																	97892112		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.728C>T	8.37:g.97892112C>T	ENSP00000220763:p.Ser243Leu		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.S243L	ENST00000220763.5	37	c.728	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245796	0.22796	.	.	ENSG00000104324	ENST00000220763	T	0.44881	0.91	5.53	5.53	0.82687	.	0.237439	0.37304	N	0.002158	T	0.30039	0.0752	N	0.25144	0.715	0.33293	D	0.563808	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.005	T	0.22347	-1.0219	10	0.11485	T	0.65	-14.4398	17.032	0.86463	0.0:1.0:0.0:0.0	.	243;243	B5MDX4;Q9Y646	.;PGCP_HUMAN	L	243	ENSP00000220763:S243L	ENSP00000220763:S243L	S	+	2	0	AC010859.1	97961288	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	5.875000	0.69660	2.775000	0.95449	0.586000	0.80456	TCA	CPQ	-	NULL		0.453	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	C	NM_016134		97892112	1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	1.000	T	T	97892112	C	T	97892112	3	4	147	1	0	0	0	0	1	0	0	0	11810	838	29	1	738	1	PGCP	8	97892112	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4909074	97892112	48471910	525	23779										
ANGPT1	284	genome.wustl.edu	37	chr8	108509553	108509553	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgttgaagtttctgggaagaGaaatccggttccacgtgtgg	14	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:108509553G>C								ANGPT1 (160803 upstream) : RNA5SP275 (387168 downstream)																							TCTGGGAAGAGAAATCCGGTT	0.448																																																	0													174	158	163					8																	108509553		2203	4300	6503	SO:0001628	intergenic_variant	284																															8.37:g.108509553G>C				Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.F78L		37	c.234		8	.	.	.	.	.	.	.	.	.	.	G	3.710	-0.059821	0.07317	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	D;D	0.84442	-1.85;-1.85	6.06	4.25	0.50352	.	0.203180	0.35646	N	0.003062	T	0.67477	0.2897	N	0.04880	-0.145	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.58188	-0.7680	10	0.10902	T	0.67	.	11.8674	0.52501	0.0656:0.1233:0.8111:0.0	.	78;78	Q5HYA0;Q15389	.;ANGP1_HUMAN	L	78	ENSP00000428340:F78L;ENSP00000297450:F78L	ENSP00000297450:F78L	F	-	3	2	ANGPT1	108578729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.405000	0.52630	0.865000	0.35603	0.650000	0.86243	TTC	ANGPT1	-	NULL	0	0.448					ANGPT1	HGNC			G			108509553	-1	no_errors	ENST00000517746	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108509553	G	C	108509553	1	2	147	0	1	0	0	0	0	0	0	0	610	933	33	1		1	ANGPT1	8	108509553	IGR	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	10617441	108509553	37854469	526	23780										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110400737	110400737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttgtacagagtttacattgGaggaatgccctgtgagcttc	11	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:110400737G>A	ENST00000378402.5	+	7	685	c.581G>A	c.(580-582)gGa>gAa	p.G194E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	194	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTACATTGGAGGAATGCCC	0.299										HNSCC(38;0.096)																																							0													27	25	26					8																	110400737		1719	3828	5547	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.581G>A	8.37:g.110400737G>A	ENSP00000367655:p.Gly194Glu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G194E	ENST00000378402.5	37	c.581	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816458	0.70912	.	.	ENSG00000205038	ENST00000378402	D	0.83755	-1.76	5.33	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88640	0.6491	L	0.59436	1.845	0.41080	D	0.985518	D	0.76494	0.999	D	0.77004	0.989	D	0.89496	0.3760	10	0.72032	D	0.01	.	13.2352	0.59965	0.0:0.0:0.8401:0.1599	.	194	Q86WI1	PKHL1_HUMAN	E	194	ENSP00000367655:G194E	ENSP00000367655:G194E	G	+	2	0	PKHD1L1	110469913	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.003000	0.76310	1.236000	0.43740	0.655000	0.94253	GGA	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110400737	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110400737	G	A	110400737	3	1	147	1	0	0	0	0	1	0	0	0	11996	1174	41	1	607	1	PKHD1L1	8	110400737	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1891184	110400737	35963285	527	23781										
CSMD3	114788	genome.wustl.edu	37	chr8	113662455	113662455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atagaaggggctcttcatgaCtcaacctgtatcctgaatca	8	10	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:113662455C>T	ENST00000297405.5	-	19	3372	c.3128G>A	c.(3127-3129)aGt>aAt	p.S1043N	CSMD3_ENST00000455883.2_Missense_Mutation_p.S939N|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1003N|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1043N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1043	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCTTCATGACTCAACCTGTA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													130	128	129					8																	113662455		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3128G>A	8.37:g.113662455C>T	ENSP00000297405:p.Ser1043Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S1043N	ENST00000297405.5	37	c.3128	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940662	0.73557	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.74	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	L	0.48260	1.515	0.37186	D	0.903736	D;D;D	0.71674	0.957;0.965;0.998	P;D;D	0.71184	0.855;0.91;0.972	T	0.70256	-0.4922	10	0.18276	T	0.48	.	14.666	0.68907	0.0:0.9304:0.0:0.0696	.	939;1043;1003	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1003;1043;383;939;1043	ENSP00000345799:S1003N;ENSP00000297405:S1043N;ENSP00000341558:S383N;ENSP00000412263:S939N;ENSP00000343124:S1043N	ENSP00000297405:S1043N	S	-	2	0	CSMD3	113731631	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.050000	0.57404	1.444000	0.47605	0.561000	0.74099	AGT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113662455	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113662455	C	T	113662455	3	4	147	1	0	0	0	0	1	0	0	0	3951	565	20	4	8207	4	CSMD3	8	113662455	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3261718	113662455	32701567	528	23782										
EIF3H	8667	genome.wustl.edu	37	chr8	117767936	117767936	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctgcacttgcttcacggctGaatctcccgagccgcctttg	9	15	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:117767936G>A	ENST00000276682.4	-	3	909	c.143C>T	c.(142-144)tCa>tTa	p.S48L	EIF3H_ENST00000521861.1_Missense_Mutation_p.S34L					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CTTCACGGCTGAATCTCCCGA	0.617																																																	0													111	76	88					8																	117767936		2203	4300	6503	SO:0001583	missense	8667			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.143C>T	8.37:g.117767936G>A	ENSP00000276682:p.Ser48Leu			Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.S34L	ENST00000276682.4	37	c.101		8	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507224	0.44558	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518995;ENST00000522453;ENST00000520813	T;T;T;T;T	0.56611	0.45;0.45;0.77;0.45;0.45	5.65	3.84	0.44239	.	0.183275	0.49916	D	0.000129	T	0.42765	0.1217	L	0.33339	1.005	0.47547	D	0.999456	B;B;B	0.25850	0.036;0.136;0.136	B;B;B	0.24541	0.054;0.049;0.034	T	0.37337	-0.9710	10	0.62326	D	0.03	-1.4766	13.7282	0.62771	0.0:0.3144:0.6856:0.0	.	34;48;34	B4DJN9;B3KS98;O15372	.;.;EIF3H_HUMAN	L	34;48;34;34;48	ENSP00000429931:S34L;ENSP00000276682:S48L;ENSP00000428669:S34L;ENSP00000428885:S34L;ENSP00000427908:S48L	ENSP00000276682:S48L	S	-	2	0	EIF3H	117837117	1.000000	0.71417	0.991000	0.47740	0.496000	0.33645	3.469000	0.53093	0.915000	0.36847	-0.176000	0.13171	TCA	EIF3H	-	pfam_JAB1_Mov34_MPN_PAD1		0.617	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	G	NM_003756		117767936	-1	no_errors	ENST00000521861	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117767936	G	A	117767936	3	1	147	1	0	0	0	0	1	0	0	0	5030	1294	45	1	989	1	EIF3H	8	117767936	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4105481	117767936	28596086	529	23783										
ANXA13	312	genome.wustl.edu	37	chr8	124707800	124707800	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgtatcacctttgacatctGattcgaggctcctatcaaat	6	10	3	2	rs201946511		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:124707800G>A	ENST00000419625.1	-	6	485	c.413C>T	c.(412-414)tCa>tTa	p.S138L	ANXA13_ENST00000262219.6_Missense_Mutation_p.S179L	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	138					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGACATCTGATTCGAGGCT	0.383																																																	0													149	150	150					8																	124707800		2203	4300	6503	SO:0001583	missense	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.413C>T	8.37:g.124707800G>A	ENSP00000390809:p.Ser138Leu		Q9BQR5	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.S179L	ENST00000419625.1	37	c.536	CCDS47917.1	8	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370759	0.61624	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.03553	3.89;3.89;3.89	6.04	6.04	0.98038	Annexin repeat, conserved site (1);	0.166280	0.53938	D	0.000041	T	0.24470	0.0593	M	0.86343	2.81	0.50813	D	0.999895	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00216	-1.1910	10	0.62326	D	0.03	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	138;179	P27216;P27216-2	ANX13_HUMAN;.	L	179;138;109	ENSP00000262219:S179L;ENSP00000390809:S138L;ENSP00000429358:S109L	ENSP00000262219:S179L	S	-	2	0	ANXA13	124776981	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	5.594000	0.67557	2.873000	0.98535	0.561000	0.74099	TCA	ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.383	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	G	NM_004306		124707800	-1	no_errors	ENST00000262219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124707800	G	A	124707800	3	1	147	1	0	0	0	0	1	0	0	0	717	1294	45	1	561	1	ANXA13	8	124707800	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6939864	124707800	21656222	530	23784										
FAM84B	157638	genome.wustl.edu	37	chr8	127569296	127569296	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcgcccggcttgcacttgttGagcaggttctcgggcgtgta	14	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:127569296G>C	ENST00000304916.3	-	2	794	c.339C>G	c.(337-339)ctC>ctG	p.L113L	RP11-89K10.1_ENST00000520512.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	113						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCACTTGTTGAGCAGGTTCT	0.612																																																	0													26	29	28					8																	127569296		2202	4298	6500	SO:0001819	synonymous_variant	157638			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.339C>G	8.37:g.127569296G>C				Silent	SNP	pfam_LRAT-like_dom	p.L113	ENST00000304916.3	37	c.339	CCDS6358.1	8																																																																																			FAM84B	-	NULL		0.612	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	G	NM_174911		127569296	-1	no_errors	ENST00000304916	ensembl	human	known	70_37	silent	SNP	1.000	C	C	127569296	G	C	127569296	2	2	147	1	0	0	0	0	0	0	0	1	5660	1277	45	1		1	FAM84B	8	127569296	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2861496	127569296	18794726	531	23785										
EFR3A	23167	genome.wustl.edu	37	chr8	132968055	132968055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccttctgcaactgacaaaGaagagaatcctgctgtgctg	9	11	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:132968055G>C	ENST00000254624.5	+	7	904	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	EFR3A_ENST00000519656.1_Missense_Mutation_p.E191Q|EFR3A_ENST00000334503.4_Missense_Mutation_p.E227Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	227						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AACTGACAAAGAAGAGAATCC	0.388																																																	0													136	140	139					8																	132968055		2203	4300	6503	SO:0001583	missense	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.679G>C	8.37:g.132968055G>C	ENSP00000254624:p.Glu227Gln		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E227Q	ENST00000254624.5	37	c.679	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787650	0.90367	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.68025	3.03;3.03;-0.3	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.49350	1.555	0.80722	D	1	B	0.32425	0.371	B	0.29524	0.103	T	0.58831	-0.7567	10	0.27785	T	0.31	-25.858	18.6929	0.91589	0.0:0.0:1.0:0.0	.	227	Q14156	EFR3A_HUMAN	Q	227;227;227;191	ENSP00000254624:E227Q;ENSP00000334769:E227Q;ENSP00000428086:E191Q	ENSP00000254624:E227Q	E	+	1	0	EFR3A	133037237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.265000	0.65519	2.643000	0.89663	0.650000	0.86243	GAA	EFR3A	-	superfamily_ARM-type_fold		0.388	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	G	NM_015137		132968055	1	no_errors	ENST00000254624	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132968055	G	C	132968055	3	2	147	1	0	0	0	0	1	0	0	0	4968	943	33	1	705	1	EFR3A	8	132968055	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5398759	132968055	13395967	532	23786										
ST3GAL1	6482	genome.wustl.edu	37	chr8	134472011	134472011	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcagcccttcactgcgtcatCtccccttgaagatccggatt	7	15	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:134472011C>T	ENST00000319914.5	-	9	2046	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R340K|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R340K|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R340K			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	340					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			ACTGCGTCATCTCCCCTTGAA	0.587																																																	0													161	115	130					8																	134472011		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.1019G>A	8.37:g.134472011C>T	ENSP00000318445:p.Arg340Lys		O60677|Q9UN51	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R340K	ENST00000319914.5	37	c.1019	CCDS6373.1	8	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242308	0.58995	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.13	5.13	0.70059	.	0.145952	0.64402	D	0.000005	T	0.18341	0.0440	L	0.46670	1.46	0.53005	D	0.999967	B	0.32382	0.368	B	0.30782	0.12	T	0.02539	-1.1144	10	0.32370	T	0.25	-32.5637	17.9166	0.88953	0.0:1.0:0.0:0.0	.	340	Q11201	SIA4A_HUMAN	K	340	ENSP00000318445:R340K;ENSP00000414073:R340K;ENSP00000428540:R340K;ENSP00000430515:R340K	ENSP00000318445:R340K	R	-	2	0	ST3GAL1	134541193	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	2.132000	0.42083	2.558000	0.86282	0.555000	0.69702	AGA	ST3GAL1	-	pirsf_Sialyl_trans		0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	C	NM_003033		134472011	-1	no_errors	ENST00000319914	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134472011	C	T	134472011	3	4	147	1	0	0	0	0	1	0	0	0	15244	913	32	1	7	1	ST3GAL1	8	134472011	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1503956	134472011	11892011	533	23787										
CYP11B1	1584	genome.wustl.edu	37	chr8	143961221	143961221	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacacctctgcctttgccctGagtgccattccaatgctccc	6	18	1	1	rs200581194		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:143961221G>T	ENST00000292427.4	-	1	41	c.9C>A	c.(7-9)ctC>ctA	p.L3L	CYP11B1_ENST00000377675.3_Silent_p.L3L|CYP11B1_ENST00000517471.1_Silent_p.L3L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	3					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTTTGCCCTGAGTGCCATTC	0.617									Familial Hyperaldosteronism type I																																								0													132	128	129					8																	143961221		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.9C>A	8.37:g.143961221G>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.L3	ENST00000292427.4	37	c.9	CCDS6392.1	8																																																																																			CYP11B1	-	NULL		0.617	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	G			143961221	-1	no_errors	ENST00000292427	ensembl	human	known	70_37	silent	SNP	0.000	T	T	143961221	G	T	143961221	2	4	147	1	0	0	0	0	0	0	0	1	4150	1277	45	3		3	CYP11B1	8	143961221	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9489210	143961221	2402801	534	23788										
EEF1D	1936	genome.wustl.edu	37	chr8	144671934	144671934	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agccacacgcgttcggccgaGaggcccaggagggccaggtc	16	14	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:144671934G>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000532741.1_Silent_p.L156L|EEF1D_ENST00000442189.2_Silent_p.L106L|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Silent_p.L106L|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTTCGGCCGAGAGGCCCAGGA	0.662																																																	0													19	21	21					8																	144671934		2197	4296	6493	SO:0001627	intron_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2915C>A	8.37:g.144671934G>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu	p.L106	ENST00000529272.1	37	c.318	CCDS6405.1	8																																																																																			EEF1D	-	NULL		0.662	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	G	NM_032378		144671934	-1	no_errors	ENST00000423316	ensembl	human	known	70_37	silent	SNP	0.992	T	T	144671934	G	T	144671934	1	4	147	0	1	0	0	0	0	0	0	0	4936	929	33	3		3	EEF1D	8	144671934	Intron	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	710713	144671934	1692088	535	23789										
EPPK1	83481	genome.wustl.edu	37	chr8	144941826	144941826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgtgcagggtcttctgatCgatgaccctggagttgaaca	13	8	2	3	rs369677374		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:144941826C>T	ENST00000525985.1	-	2	5667	c.5596G>A	c.(5596-5598)Gat>Aat	p.D1866N				P58107	EPIPL_HUMAN	epiplakin 1	1866						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCTTCTGATCGATGACCCTG	0.567																																																	0								C	ASN/ASP	0,4198		0,0,2099	131	129	130		5596	2.2	0	8		130	1,8457		0,1,4228	no	missense	EPPK1	NM_031308.1	23	0,1,6327	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	1866/2420	144941826	1,12655	2099	4229	6328	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5596G>A	8.37:g.144941826C>T	ENSP00000436337:p.Asp1866Asn		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.D1866N	ENST00000525985.1	37	c.5596		8	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033582	0.19590	0.0	1.18E-4	ENSG00000227184	ENST00000525985	T	0.73258	-0.73	5.1	2.23	0.28157	.	.	.	.	.	T	0.48314	0.1493	N	0.16656	0.425	0.09310	N	0.999992	P	0.35493	0.505	B	0.23275	0.045	T	0.29427	-1.0012	9	0.45353	T	0.12	.	9.3227	0.37975	0.0:0.7508:0.0:0.2492	.	1866	E9PPU0	.	N	1866	ENSP00000436337:D1866N	ENSP00000436337:D1866N	D	-	1	0	EPPK1	145013814	0.915000	0.31059	0.006000	0.13384	0.002000	0.02628	1.942000	0.40243	0.712000	0.32039	0.585000	0.79938	GAT	EPPK1	-	NULL		0.567	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144941826	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.276	T	T	144941826	C	T	144941826	3	4	147	1	0	0	0	0	1	0	0	0	5202	884	31	1	1670	1	EPPK1	8	144941826	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	269892	144941826	1422196	536	23790										
CPSF1	29894	genome.wustl.edu	37	chr8	145626076	145626076	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggctcacccaggccaggtCtggttgggctcaaacaggat	15	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:145626076C>G	ENST00000349769.3	-	7	769	c.675G>C	c.(673-675)caG>caC	p.Q225H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	225					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGGCCAGGTCTGGTTGGGCT	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													74	59	64					8																	145626076		2202	4299	6501	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.675G>C	8.37:g.145626076C>G	ENSP00000339353:p.Gln225His		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q225H	ENST00000349769.3	37	c.675	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660183	0.67586	.	.	ENSG00000071894	ENST00000349769	T	0.22336	1.96	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	L	0.56280	1.765	0.58432	D	0.999999	B;D;P	0.76494	0.371;0.999;0.885	B;D;P	0.72982	0.141;0.979;0.688	T	0.03933	-1.0991	10	0.37606	T	0.19	-10.1027	17.0614	0.86548	0.0:1.0:0.0:0.0	.	225;147;225	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	H	225	ENSP00000339353:Q225H	ENSP00000339353:Q225H	Q	-	3	2	CPSF1	145596884	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.974000	0.49272	2.638000	0.89438	0.585000	0.79938	CAG	CPSF1	-	NULL		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145626076	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145626076	C	G	145626076	3	3	147	1	0	0	0	0	1	0	0	0	3829	912	32	1	3784	1	CPSF1	8	145626076	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	684250	145626076	737946	537	23791										
ZNF251	90987	genome.wustl.edu	37	chr8	145948354	145948354	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtacggcttctccccagtgtGacttctctggtgtctactta	9	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:145948354G>T	ENST00000292562.7	-	5	966	c.691C>A	c.(691-693)Cac>Aac	p.H231N	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCCCCAGTGTGACTTCTCTGG	0.428																																																	0													55	60	58					8																	145948354		2066	4222	6288	SO:0001583	missense	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.691C>A	8.37:g.145948354G>T	ENSP00000292562:p.His231Asn		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H231N	ENST00000292562.7	37	c.691	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554446	0.45487	.	.	ENSG00000198169	ENST00000292562	T	0.67345	-0.26	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82351	0.5018	M	0.90814	3.15	0.35554	D	0.804165	D	0.69078	0.997	D	0.67725	0.953	D	0.88639	0.3174	9	0.72032	D	0.01	.	12.2851	0.54788	0.0:0.0:1.0:0.0	.	231	Q9BRH9	ZN251_HUMAN	N	231	ENSP00000292562:H231N	ENSP00000292562:H231N	H	-	1	0	ZNF251	145919163	1.000000	0.71417	0.216000	0.23742	0.894000	0.52154	3.684000	0.54671	1.578000	0.49821	0.563000	0.77884	CAC	ZNF251	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	G	NM_138367		145948354	-1	no_errors	ENST00000292562	ensembl	human	known	70_37	missense	SNP	0.997	T	T	145948354	G	T	145948354	3	4	147	1	0	0	0	0	1	0	0	0	17826	1290	45	3	1328	3	ZNF251	8	145948354	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	322278	145948354	415668	538	23792										
ZNF251	90987	genome.wustl.edu	37	chr8	145948737	145948737	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaatttttggtttaaaataGatagttccttcttggtccca	6	6	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:145948737G>C	ENST00000292562.7	-	5	583	c.308C>G	c.(307-309)tCt>tGt	p.S103C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTTTAAAATAGATAGTTCCTT	0.368																																																	0													10	10	10					8																	145948737		1796	4043	5839	SO:0001583	missense	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.308C>G	8.37:g.145948737G>C	ENSP00000292562:p.Ser103Cys		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S103C	ENST00000292562.7	37	c.308	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816436	0.50527	.	.	ENSG00000198169	ENST00000292562	T	0.08546	3.08	2.63	-0.418	0.12344	.	.	.	.	.	T	0.05640	0.0148	L	0.29908	0.895	0.09310	N	0.999999	P	0.47762	0.9	B	0.40602	0.334	T	0.36986	-0.9725	9	0.38643	T	0.18	-7.7549	5.6286	0.17497	0.6187:0.0:0.3813:0.0	.	103	Q9BRH9	ZN251_HUMAN	C	103	ENSP00000292562:S103C	ENSP00000292562:S103C	S	-	2	0	ZNF251	145919546	0.004000	0.15560	0.136000	0.22124	0.652000	0.38707	-0.232000	0.09055	-0.014000	0.14175	0.313000	0.20887	TCT	ZNF251	-	NULL		0.368	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	G	NM_138367		145948737	-1	no_errors	ENST00000292562	ensembl	human	known	70_37	missense	SNP	0.172	C	C	145948737	G	C	145948737	3	2	147	1	0	0	0	0	1	0	0	0	17826	942	33	1	1711	1	ZNF251	8	145948737	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	383	145948737	415285	539	23793										
ZNF7	7553	genome.wustl.edu	37	chr8	146068094	146068094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccaatgcggaaaagccttCagtatgagcacacagcttac	8	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:146068094C>T	ENST00000528372.1	+	5	1842	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Silent_p.F534F|ZNF7_ENST00000446747.2_Silent_p.F545F|ZNF7_ENST00000544249.1_Silent_p.F438F			P17097	ZNF7_HUMAN	zinc finger protein 7	534					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAAAAGCCTTCAGTATGAGCA	0.448																																																	0													97	103	101					8																	146068094		2203	4300	6503	SO:0001819	synonymous_variant	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1602C>T	8.37:g.146068094C>T			B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F534	ENST00000528372.1	37	c.1602	CCDS6435.1	8																																																																																			ZNF7	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	C	NM_003416		146068094	1	no_errors	ENST00000325241	ensembl	human	known	70_37	silent	SNP	0.476	T	T	146068094	C	T	146068094	2	4	147	1	0	0	0	0	0	0	0	1	18132	825	29	1		1	ZNF7	8	146068094	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	119357	146068094	295928	540	23794										
ZNF250	58500	genome.wustl.edu	37	chr8	146107136	146107136	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgaaggctttgccacattCtgtgcactggaagggctttt	12	9	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:146107136C>T	ENST00000292579.7	-	6	1563	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E478K	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGCCACATTCTGTGCACTGG	0.552																																					NSCLC(16;520 556 24096 40084 43446)												0													76	66	70					8																	146107136		2203	4300	6503	SO:0001583	missense	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1447G>A	8.37:g.146107136C>T	ENSP00000292579:p.Glu483Lys		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E483K	ENST00000292579.7	37	c.1447	CCDS34972.1	8	.	.	.	.	.	.	.	.	.	.	C	8.491	0.861931	0.17178	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.07327	3.2;3.2	4.1	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.491932	0.17318	N	0.178630	T	0.06917	0.0176	L	0.31845	0.965	0.38804	D	0.955274	P;B	0.36048	0.534;0.06	B;B	0.35353	0.201;0.054	T	0.33777	-0.9855	10	0.62326	D	0.03	-28.4115	9.0936	0.36625	0.1244:0.4734:0.4023:0.0	.	478;483	D3DWP1;P15622	.;ZN250_HUMAN	K	483;478;366	ENSP00000292579:E483K;ENSP00000393442:E478K	ENSP00000292579:E483K	E	-	1	0	ZNF250	146077940	0.000000	0.05858	0.224000	0.23877	0.029000	0.11900	0.016000	0.13377	0.267000	0.21916	-0.494000	0.04653	GAA	ZNF250	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	C	NM_021061		146107136	-1	no_errors	ENST00000292579	ensembl	human	known	70_37	missense	SNP	0.452	T	T	146107136	C	T	146107136	3	4	147	1	0	0	0	0	1	0	0	0	17825	922	32	1	239	1	ZNF250	8	146107136	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	39042	146107136	256886	541	23795										
DOCK8	81704	genome.wustl.edu	37	chr9	304664	304664	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacgcttccgaaacagacgtTtgagtcggaaaccttggagt	12	9	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:304664T>A	ENST00000453981.1	+	5	600	c.488T>A	c.(487-489)tTt>tAt	p.F163Y	DOCK8_ENST00000469391.1_Missense_Mutation_p.F95Y|DOCK8_ENST00000432829.2_Missense_Mutation_p.F95Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	163					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAACAGACGTTTGAGTCGGAA	0.453																																																	0													132	141	138					9																	304664		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.488T>A	9.37:g.304664T>A	ENSP00000408464:p.Phe163Tyr		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.F163Y	ENST00000453981.1	37	c.488	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860915	0.91433	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000487230;ENST00000469391	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	L	0.60845	1.875	0.58432	D	0.999998	D;D;P	0.89917	0.985;1.0;0.93	D;D;P	0.87578	0.914;0.998;0.819	T	0.64676	-0.6351	10	0.29301	T	0.29	.	15.1157	0.72401	0.0:0.0:0.0:1.0	.	95;163;163	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	Y	163;163;95;95;95	ENSP00000408464:F163Y;ENSP00000394888:F95Y;ENSP00000418318:F95Y;ENSP00000419438:F95Y	ENSP00000287364:F163Y	F	+	2	0	DOCK8	294664	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.369000	0.66138	2.311000	0.77944	0.533000	0.62120	TTT	DOCK8	-	pfam_DOCK_C/D_N		0.453	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	T	XM_036307		304664	1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	A	A	304664	T	A	304664	3	1	147	1	0	0	0	0	1	0	0	0	4703	1841	64	5	506	5	DOCK8	9	304664	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09		304664	140908767	542	23796										
SMARCA2	6595	genome.wustl.edu	37	chr9	2123739	2123739	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggatggacatggaccggcgGagggaagatgcccggaaccc	17	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:2123739G>C	ENST00000382203.1	+	27	3992	c.3783G>C	c.(3781-3783)cgG>cgC	p.R1261R	SMARCA2_ENST00000349721.2_Silent_p.R1261R|SMARCA2_ENST00000382194.1_Silent_p.R1261R|SMARCA2_ENST00000357248.2_Silent_p.R1261R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1261					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGGACCGGCGGAGGGAAGATG	0.542																																																	0													42	45	44					9																	2123739		2203	4300	6503	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3783G>C	9.37:g.2123739G>C			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1261	ENST00000382203.1	37	c.3783	CCDS34977.1	9																																																																																			SMARCA2	-	NULL		0.542	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2123739	1	no_errors	ENST00000349721	ensembl	human	known	70_37	silent	SNP	0.800	C	C	2123739	G	C	2123739	2	2	147	1	0	0	0	0	0	0	0	1	14799	1161	41	1		1	SMARCA2	9	2123739	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1819075	2123739	139089692	543	23797										
GLIS3	169792	genome.wustl.edu	37	chr9	3828373	3828373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccgctgcggagagactcccCaaagaggctcgaggaacttg	13	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:3828373C>T	ENST00000324333.10	-	10	2420	c.2227G>A	c.(2227-2229)Ggg>Agg	p.G743R	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.G898R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	743					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGAGACTCCCCAAAGAGGCTC	0.542																																																	0													50	49	49					9																	3828373		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2227G>A	9.37:g.3828373C>T	ENSP00000325494:p.Gly743Arg		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G898R	ENST00000324333.10	37	c.2692	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	c	17.33	3.362860	0.61403	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.12569	2.67;2.68	5.92	5.02	0.67125	.	0.000000	0.50627	D	0.000109	T	0.22627	0.0546	L	0.32530	0.975	0.48511	D	0.999661	D;D;P	0.63046	0.973;0.992;0.954	P;P;B	0.59546	0.859;0.847;0.422	T	0.00169	-1.1962	10	0.51188	T	0.08	.	14.1854	0.65603	0.0:0.928:0.0:0.072	.	338;898;743	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	R	743;898	ENSP00000325494:G743R;ENSP00000371398:G898R	ENSP00000325494:G743R	G	-	1	0	GLIS3	3818373	1.000000	0.71417	0.998000	0.56505	0.142000	0.21351	3.991000	0.56973	2.793000	0.96121	0.650000	0.86243	GGG	GLIS3	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	C	NM_152629		3828373	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3828373	C	T	3828373	3	4	147	1	0	0	0	0	1	0	0	0	6466	594	21	4	104	4	GLIS3	9	3828373	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1704634	3828373	137385058	544	23798										
C9orf150	286343	genome.wustl.edu	37	chr9	12775994	12775994	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctagcgccctggagaggctaGaaaccaagcttcacctcctc	9	15	1	2	rs202014896		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:12775994G>C	ENST00000319264.3	+	1	975	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	97																	GGAGAGGCTAGAAACCAAGCT	0.627																																																	0													19	14	16					9																	12775994		2197	4295	6492	SO:0001583	missense	286343			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.280G>C	9.37:g.12775994G>C	ENSP00000321026:p.Glu94Gln		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	NULL	p.E94Q	ENST00000319264.3	37	c.280	CCDS6473.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201065	0.79015	.	.	ENSG00000153714	ENST00000319264	T	0.47528	0.84	5.1	5.1	0.69264	.	2.348820	0.02174	N	0.059963	T	0.64681	0.2620	L	0.34521	1.04	0.40706	D	0.982524	D	0.67145	0.996	D	0.75484	0.986	T	0.44757	-0.9307	10	0.40728	T	0.16	.	15.4289	0.75077	0.0:0.0:1.0:0.0	.	97	Q8IV03	CI150_HUMAN	Q	94	ENSP00000321026:E94Q	ENSP00000321026:E94Q	E	+	1	0	C9orf150	12765994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.377000	0.59562	2.378000	0.81104	0.484000	0.47621	GAA	LURAP1L	-	NULL		0.627	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LURAP1L	HGNC	protein_coding	OTTHUMT00000051730.1	G	NM_203403		12775994	1	no_errors	ENST00000319264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12775994	G	C	12775994	3	2	147	1	0	0	0	0	1	0	0	0	2467	943	33	1	282	1	C9orf150	9	12775994	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8947621	12775994	128437437	545	23799										
MPDZ	8777	genome.wustl.edu	37	chr9	13126745	13126745	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgagtgtatcttcttcgctGatagcaatacccaaaccccc	6	14	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:13126745G>A	ENST00000319217.7	-	33	4738	c.4491C>T	c.(4489-4491)atC>atT	p.I1497I	MPDZ_ENST00000541718.1_Silent_p.I1497I|MPDZ_ENST00000546205.1_Silent_p.I1511I|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Silent_p.I1497I|MPDZ_ENST00000381015.4_Silent_p.I1497I|MPDZ_ENST00000447879.1_Silent_p.I1464I|MPDZ_ENST00000538841.1_Silent_p.I356I|MPDZ_ENST00000536827.1_Silent_p.I1464I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1497	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTTCTTCGCTGATAGCAATAC	0.403																																																	0													105	99	101					9																	13126745		1891	4117	6008	SO:0001819	synonymous_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4491C>T	9.37:g.13126745G>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.I1497	ENST00000319217.7	37	c.4491		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13126745	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13126745	G	A	13126745	2	1	147	1	0	0	0	0	0	0	0	1	9745	1280	45	1		1	MPDZ	9	13126745	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	350751	13126745	128086686	546	23800										
MPDZ	8777	genome.wustl.edu	37	chr9	13140004	13140004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actccagctgtaaccaaactCatcctctttgtccacatctt	3	15	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:13140004C>T	ENST00000319217.7	-	28	4232	c.3985G>A	c.(3985-3987)Gag>Aag	p.E1329K	MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1329K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1343K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1329K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1329K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1296K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E188K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1296K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1329					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAACCAAACTCATCCTCTTTG	0.438																																																	0													167	172	171					9																	13140004		1945	4148	6093	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3985G>A	9.37:g.13140004C>T	ENSP00000320006:p.Glu1329Lys		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E1329K	ENST00000319217.7	37	c.3985		9	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695554	0.68386	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.50001	2.81;2.76;2.76;2.66;2.72;2.78;2.82;2.81;2.8;0.76	5.94	5.94	0.96194	.	0.000000	0.47455	D	0.000227	T	0.63827	0.2544	L	0.51422	1.61	0.80722	D	1	D;B;P;D;P	0.76494	0.991;0.415;0.945;0.999;0.945	P;B;P;D;P	0.65684	0.772;0.334;0.641;0.937;0.641	T	0.55860	-0.8074	10	0.33141	T	0.24	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	1296;188;1296;1209;1329	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	K	1329;1329;1329;265;188;1296;1296;1329;1209;1343;151	ENSP00000320006:E1329K;ENSP00000439807:E1329K;ENSP00000370410:E1329K;ENSP00000444230:E265K;ENSP00000444717:E188K;ENSP00000444151:E1296K;ENSP00000415208:E1296K;ENSP00000370403:E1329K;ENSP00000446358:E1343K;ENSP00000389705:E151K	ENSP00000320006:E1329K	E	-	1	0	MPDZ	13130004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.416000	0.73332	2.812000	0.96745	0.557000	0.71058	GAG	MPDZ	-	superfamily_PDZ		0.438	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13140004	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13140004	C	T	13140004	3	4	147	1	0	0	0	0	1	0	0	0	9745	835	29	1	2216	1	MPDZ	9	13140004	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	13259	13140004	128073427	547	23801										
DENND4C	55667	genome.wustl.edu	37	chr9	19300283	19300283	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagtaaaattctgctgcattCtcttaggccagctgtcttga	9	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:19300283C>T	ENST00000380432.2	+	5	590	c.557C>T	c.(556-558)tCt>tTt	p.S186F	DENND4C_ENST00000602925.1_Missense_Mutation_p.S422F|DENND4C_ENST00000434457.2_Missense_Mutation_p.S422F			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	186	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGCTGCATTCTCTTAGGCCA	0.398																																																	0													171	151	158					9																	19300283		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.557C>T	9.37:g.19300283C>T	ENSP00000369797:p.Ser186Phe		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S186F	ENST00000380432.2	37	c.557		9	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748110	0.89663	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.08	5.08	0.68730	DENN (3);	0.000000	0.85682	D	0.000000	D	0.90259	0.6954	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93291	0.6668	9	0.87932	D	0	-21.0317	19.022	0.92919	0.0:1.0:0.0:0.0	.	186	Q5VZ89	DEN4C_HUMAN	F	186	.	ENSP00000369802:S186F	S	+	2	0	DENND4C	19290283	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.609000	0.82925	2.799000	0.96334	0.585000	0.79938	TCT	DENND4C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.398	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19300283	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19300283	C	T	19300283	3	4	147	1	0	0	0	0	1	0	0	0	4445	913	32	1	575	1	DENND4C	9	19300283	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6160279	19300283	121913148	548	23802										
KIAA1797	54914	genome.wustl.edu	37	chr9	20862593	20862593	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acaggttgtttgcattcgctCcacttggaatgctctctctc	8	12	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:20862593C>G	ENST00000380249.1	+	18	2301	c.1937C>G	c.(1936-1938)tCc>tGc	p.S646C	FOCAD_ENST00000605086.1_Missense_Mutation_p.S82C|FOCAD_ENST00000338382.6_Missense_Mutation_p.S646C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	646						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGCATTCGCTCCACTTGGAAT	0.388																																																	0													207	174	185					9																	20862593		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1937C>G	9.37:g.20862593C>G	ENSP00000369599:p.Ser646Cys		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.S646C	ENST00000380249.1	37	c.1937	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177092	0.78564	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.27104	1.69;1.69	5.75	5.75	0.90469	Armadillo-type fold (1);Domain of unknown function DUF3730 (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.53788	-0.8389	10	0.87932	D	0	-8.9532	19.9542	0.97213	0.0:1.0:0.0:0.0	.	646	Q5VW36	K1797_HUMAN	C	646	ENSP00000369599:S646C;ENSP00000344307:S646C	ENSP00000344307:S646C	S	+	2	0	KIAA1797	20852593	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	6.075000	0.71261	2.728000	0.93425	0.650000	0.86243	TCC	FOCAD	-	pfam_DUF3730,superfamily_ARM-type_fold		0.388	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	C	NM_017794		20862593	1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20862593	C	G	20862593	3	3	147	1	0	0	0	0	1	0	0	0	8278	855	30	1	1995	1	KIAA1797	9	20862593	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1562310	20862593	120350838	549	23803										
AQP7	364	genome.wustl.edu	37	chr9	33385029	33385029	+	3'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgctctagggccatggattCatgtaagggtggggcagggt	18	6	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:33385029C>A	ENST00000537089.1	-	0	1403				AQP7_ENST00000377425.4_3'UTR			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.E335K(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCCATGGATTCATGTAAGGGT	0.542																																																	1	Substitution - Missense(1)	lung(1)											145	155	151					9																	33385029		2203	4297	6500	SO:0001624	3_prime_UTR_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.*587G>T	9.37:g.33385029C>A			Q08E94|Q5T5L9|Q8NHM3	Nonsense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP	p.E335*	ENST00000537089.1	37	c.1003		9	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584685	0.46110	.	.	ENSG00000165269	ENST00000379507;ENST00000297988	.	.	.	3.2	2.28	0.28536	.	4.761610	0.00520	N	0.000186	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.6448	5.6033	0.17365	0.0:0.8487:0.0:0.1513	.	.	.	.	X	334;335	.	ENSP00000297988:E335X	E	-	1	0	AQP7	33375029	0.002000	0.14202	0.015000	0.15790	0.022000	0.10575	0.889000	0.28282	1.822000	0.53115	0.298000	0.19748	GAA	AQP7	-	NULL		0.542	AQP7-202	KNOWN	basic	protein_coding	AQP7	HGNC	protein_coding		C	NM_001170		33385029	-1	no_errors	ENST00000297988	ensembl	human	known	70_37	nonsense	SNP	0.003	A	A	33385029	C	A	33385029	1	1	147	0	1	0	0	0	0	0	0	0	831	835	29	3		3	AQP7	9	33385029	3'UTR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	12522436	33385029	107828402	550	23804										
UBAP1	51271	genome.wustl.edu	37	chr9	34249786	34249786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttccactaggtcacccctCctaatttctcagtgtcacaa	4	14	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:34249786C>T	ENST00000297661.4	+	5	1328	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	UBAP1_ENST00000359544.2_Missense_Mutation_p.P365S|UBAP1_ENST00000540348.1_Missense_Mutation_p.P365S|UBAP1_ENST00000545103.1_Missense_Mutation_p.P429S|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000536252.1_Missense_Mutation_p.P365S|UBAP1_ENST00000543944.1_Missense_Mutation_p.P401S	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	365					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GGTCACCCCTCCTAATTTCTC	0.547																																					NSCLC(109;1074 1634 14978 20375 39620)												0													102	96	98					9																	34249786		2203	4300	6503	SO:0001583	missense	51271			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1093C>T	9.37:g.34249786C>T	ENSP00000297661:p.Pro365Ser		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.P429S	ENST00000297661.4	37	c.1285	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845728	0.16963	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000359544	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.46	4.57	0.56435	.	0.714705	0.13810	N	0.361171	T	0.47764	0.1463	L	0.44542	1.39	0.29134	N	0.879444	B;P;P;B	0.42692	0.277;0.493;0.787;0.13	B;B;P;B	0.44359	0.109;0.109;0.447;0.055	T	0.40534	-0.9558	10	0.12430	T	0.62	-1.4936	19.3882	0.94566	0.0:0.8849:0.1151:0.0	.	429;401;429;365	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	S	429;401;365;365;365;365	ENSP00000441024:P429S;ENSP00000439806:P401S;ENSP00000440456:P365S;ENSP00000439976:P365S;ENSP00000297661:P365S;ENSP00000352541:P365S	ENSP00000297661:P365S	P	+	1	0	UBAP1	34239786	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.622000	0.46427	0.878000	0.35920	-0.795000	0.03280	CCT	UBAP1	-	NULL		0.547	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	C			34249786	1	no_errors	ENST00000545103	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34249786	C	T	34249786	3	4	147	1	0	0	0	0	1	0	0	0	16867	855	30	1	1344	1	UBAP1	9	34249786	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	864757	34249786	106963645	551	23805										
KIF24	347240	genome.wustl.edu	37	chr9	34256848	34256848	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaagtagagttctctctgctCcagtccacgggccccttact	9	14	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:34256848C>G	ENST00000402558.2	-	10	2781	c.2757G>C	c.(2755-2757)tgG>tgC	p.W919C	KIF24_ENST00000379166.2_Missense_Mutation_p.W919C|KIF24_ENST00000345050.2_Missense_Mutation_p.W785C|KIF24_ENST00000379174.3_Missense_Mutation_p.W785C			Q5T7B8	KIF24_HUMAN	kinesin family member 24	919					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCTCTCTGCTCCAGTCCACGG	0.517																																																	0													79	86	84					9																	34256848		2203	4300	6503	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2757G>C	9.37:g.34256848C>G	ENSP00000384433:p.Trp919Cys		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.W919C	ENST00000402558.2	37	c.2757	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555058	0.45487	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.79749	-1.02;-1.3;-1.02;-1.3	5.71	5.71	0.89125	.	0.000000	0.39985	N	0.001212	T	0.76898	0.4052	M	0.66939	2.045	0.80722	D	1	P	0.41313	0.745	B	0.30646	0.118	T	0.80924	-0.1165	10	0.66056	D	0.02	.	16.1391	0.81512	0.1339:0.8661:0.0:0.0	.	919	Q5T7B8	KIF24_HUMAN	C	919;785;919;785;919	ENSP00000384433:W919C;ENSP00000368472:W785C;ENSP00000368464:W919C;ENSP00000340179:W785C	ENSP00000340179:W785C	W	-	3	0	KIF24	34246848	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	2.019000	0.41001	2.711000	0.92665	0.563000	0.77884	TGG	KIF24	-	NULL		0.517	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	C			34256848	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34256848	C	G	34256848	3	3	147	1	0	0	0	0	1	0	0	0	8312	856	30	1	1361	1	KIF24	9	34256848	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7062	34256848	106956583	552	23806										
DNAJB5	25822	genome.wustl.edu	37	chr9	34997162	34997162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccaaagtgccaactcagcGaggagacctcattgttgagt	10	12	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:34997162G>A	ENST00000541010.1	+	3	3965	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	DNAJB5_ENST00000453597.3_Missense_Mutation_p.R432Q|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R390Q|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R318Q|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R352Q|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R318Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	318					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)	p.R318Q(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAACTCAGCGAGGAGACCTC	0.542																																																	1	Substitution - Missense(1)	lung(1)											136	132	133					9																	34997162		2203	4300	6503	SO:0001583	missense	25822			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.953G>A	9.37:g.34997162G>A	ENSP00000443151:p.Arg318Gln		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R390Q	ENST00000541010.1	37	c.1169	CCDS35007.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.385466	0.95967	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.27	5.27	0.74061	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.055792	0.64402	N	0.000001	T	0.75686	0.3883	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.957	T	0.81278	-0.1005	10	0.87932	D	0	.	18.0653	0.89389	0.0:0.0:1.0:0.0	.	390;318	B4DSA6;O75953	.;DNJB5_HUMAN	Q	432;352;318;318;318;390;318	ENSP00000404079:R432Q;ENSP00000337626:R352Q;ENSP00000312517:R318Q;ENSP00000443151:R318Q;ENSP00000413684:R390Q;ENSP00000441999:R318Q	ENSP00000312517:R318Q	R	+	2	0	DNAJB5	34987162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.758000	0.94735	0.561000	0.74099	CGA	DNAJB5	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd		0.542	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DNAJB5	HGNC	protein_coding	OTTHUMT00000401397.1	G			34997162	1	no_errors	ENST00000454002	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34997162	G	A	34997162	3	1	147	1	0	0	0	0	1	0	0	0	4633	1058	37	1	1183	1	DNAJB5	9	34997162	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	740314	34997162	106216269	553	23807										
C9orf100	84904	genome.wustl.edu	37	chr9	35662192	35662192	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttacctgatagcccaagtcaGactgtggtaccagcgtgaca	10	11	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:35662192G>A	ENST00000378387.3	-	8	1093	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	ARHGEF39_ENST00000378395.2_Silent_p.L290L|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GCCCAAGTCAGACTGTGGTAC	0.527																																																	0													129	111	117					9																	35662192		2203	4300	6503	SO:0001819	synonymous_variant	84904			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.976C>T	9.37:g.35662192G>A			Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L326	ENST00000378387.3	37	c.976	CCDS6584.2	9																																																																																			ARHGEF39	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.527	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF39	HGNC	protein_coding	OTTHUMT00000052330.1	G	NM_032818		35662192	-1	no_errors	ENST00000378387	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35662192	G	A	35662192	2	1	147	1	0	0	0	0	0	0	0	1	2449	933	33	1		1	C9orf100	9	35662192	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	665030	35662192	105551239	554	23808										
FBXO10	26267	genome.wustl.edu	37	chr9	37537857	37537857	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttttgaaggtacagaacttCacttggcaagtacccgggcc	10	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:37537857C>T	ENST00000432825.2	-	3	717	c.669G>A	c.(667-669)gtG>gtA	p.V223V	FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	223					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TACAGAACTTCACTTGGCAAG	0.483																																																	0													86	87	87					9																	37537857		1962	4130	6092	SO:0001819	synonymous_variant	26267			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.669G>A	9.37:g.37537857C>T			Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom_cyclin-like,tigrfam_Para_beta_helix_rpt-2	p.V223	ENST00000432825.2	37	c.669	CCDS47966.1	9																																																																																			FBXO10	-	superfamily_Pectin_lyase_fold/virulence		0.483	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	C			37537857	-1	no_errors	ENST00000432825	ensembl	human	known	70_37	silent	SNP	0.996	T	T	37537857	C	T	37537857	2	4	147	1	0	0	0	0	0	0	0	1	5744	813	29	1		1	FBXO10	9	37537857	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1875665	37537857	103675574	555	23809										
TJP2	9414	genome.wustl.edu	37	chr9	71831295	71831295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aattgcagtgtccggaggcaGagacaacccccactttgaaa	10	11	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:71831295G>C	ENST00000377245.4	+	3	363	c.155G>C	c.(154-156)aGa>aCa	p.R52T	TJP2_ENST00000535702.1_Missense_Mutation_p.R56T|TJP2_ENST00000348208.4_Missense_Mutation_p.R52T|TJP2_ENST00000539225.1_Missense_Mutation_p.R83T|TJP2_ENST00000377259.1_Missense_Mutation_p.R29T|TJP2_ENST00000453658.2_Missense_Mutation_p.R29T|TJP2_ENST00000265384.7_Missense_Mutation_p.R52T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	52	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCCGGAGGCAGAGACAACCCC	0.463																																																	0													96	87	90					9																	71831295		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.155G>C	9.37:g.71831295G>C	ENSP00000366453:p.Arg52Thr		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.R83T	ENST00000377245.4	37	c.248	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427722	0.83667	.	.	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.047167	0.85682	D	0.000000	T	0.44307	0.1287	L	0.49350	1.555	0.49915	D	0.999832	B;D;P;D;P	0.71674	0.137;0.998;0.719;0.998;0.916	B;D;P;D;P	0.72982	0.2;0.963;0.637;0.979;0.768	T	0.25293	-1.0136	10	0.87932	D	0	.	13.2787	0.60202	0.0726:0.0:0.9274:0.0	.	83;56;52;52;52	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	T	29;29;29;52;52;52;56;83	ENSP00000392178:R29T;ENSP00000366469:R29T;ENSP00000402941:R29T;ENSP00000366453:R52T;ENSP00000345893:R52T;ENSP00000265384:R52T;ENSP00000442090:R56T;ENSP00000438262:R83T	ENSP00000265384:R52T	R	+	2	0	TJP2	71021115	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.882000	0.63121	2.805000	0.96524	0.655000	0.94253	AGA	TJP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.463	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71831295	1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71831295	G	C	71831295	3	2	147	1	0	0	0	0	1	0	0	0	15960	942	33	1	322	1	TJP2	9	71831295	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	34293438	71831295	69382136	556	23810										
TJP2	9414	genome.wustl.edu	37	chr9	71855018	71855018	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaagttctcgaaagttatttGatcaagccaacaagcttaaa	6	7	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:71855018G>C	ENST00000377245.4	+	17	2729	c.2521G>C	c.(2521-2523)Gat>Cat	p.D841H	TJP2_ENST00000535702.1_Missense_Mutation_p.D845H|TJP2_ENST00000348208.4_Missense_Mutation_p.D841H|TJP2_ENST00000539225.1_Missense_Mutation_p.D872H|TJP2_ENST00000453658.2_Missense_Mutation_p.D818H|TJP2_ENST00000265384.7_Missense_Mutation_p.D841H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	841	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAGTTATTTGATCAAGCCAA	0.353																																																	0													66	65	65					9																	71855018		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2521G>C	9.37:g.71855018G>C	ENSP00000366453:p.Asp841His		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.D872H	ENST00000377245.4	37	c.2614	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908251	0.92107	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.93	5.93	0.95920	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.056744	0.64402	D	0.000001	T	0.67126	0.2860	M	0.76170	2.325	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.886;0.997;0.997;0.999	D;P;D;D;D	0.70935	0.943;0.881;0.912;0.971;0.957	T	0.67745	-0.5591	10	0.72032	D	0.01	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	872;845;841;841;841	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	818;841;841;841;845;872	ENSP00000392178:D818H;ENSP00000366453:D841H;ENSP00000345893:D841H;ENSP00000265384:D841H;ENSP00000442090:D845H;ENSP00000438262:D872H	ENSP00000265384:D841H	D	+	1	0	TJP2	71044838	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.903000	0.87398	2.826000	0.97356	0.655000	0.94253	GAT	TJP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.353	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71855018	1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71855018	G	C	71855018	3	2	147	1	0	0	0	0	1	0	0	0	15960	1290	45	1	2744	1	TJP2	9	71855018	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	23723	71855018	69358413	557	23811										
VPS13A	23230	genome.wustl.edu	37	chr9	79932560	79932560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgttttatcaaactactcaGaaaggtacagatccacaagt	6	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:79932560G>A	ENST00000360280.3	+	40	5162	c.4902G>A	c.(4900-4902)caG>caA	p.Q1634Q	VPS13A_ENST00000376636.3_Silent_p.Q1595Q|VPS13A_ENST00000376634.4_Silent_p.Q1634Q|VPS13A_ENST00000357409.5_Silent_p.Q1634Q|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1634					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAACTACTCAGAAAGGTACAG	0.269																																																	0													34	35	35					9																	79932560		2201	4295	6496	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4902G>A	9.37:g.79932560G>A			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.Q1634	ENST00000360280.3	37	c.4902	CCDS6655.1	9																																																																																			VPS13A	-	NULL		0.269	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79932560	1	no_errors	ENST00000360280	ensembl	human	known	70_37	silent	SNP	0.584	A	A	79932560	G	A	79932560	2	1	147	1	0	0	0	0	0	0	0	1	17220	933	33	1		1	VPS13A	9	79932560	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8077542	79932560	61280871	558	23812										
TLE4	7091	genome.wustl.edu	37	chr9	82323087	82323087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atacccctactccacgaactGatgcgcccaccccaggcagt	7	18	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:82323087G>A	ENST00000376552.2	+	12	2009	c.991G>A	c.(991-993)Gat>Aat	p.D331N	TLE4_ENST00000265284.6_Missense_Mutation_p.D306N|TLE4_ENST00000376544.3_Missense_Mutation_p.D262N|TLE4_ENST00000376537.4_Missense_Mutation_p.D363N|TLE4_ENST00000376520.4_Missense_Mutation_p.D363N|TLE4_ENST00000376534.4_De_novo_Start_OutOfFrame	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	331					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCACGAACTGATGCGCCCAC	0.433																																																	0													89	83	85					9																	82323087		1864	4094	5958	SO:0001583	missense	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.991G>A	9.37:g.82323087G>A	ENSP00000365735:p.Asp331Asn		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.D363N	ENST00000376552.2	37	c.1087	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.930924	0.97116	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	T;T;T;T;T;T;T;T	0.46451	0.87;0.92;0.94;0.94;0.97;1.22;1.74;1.3	6.04	6.04	0.98038	.	0.136331	0.64402	D	0.000004	T	0.59972	0.2233	M	0.70595	2.14	0.80722	D	1	P;B;P;B	0.43826	0.818;0.447;0.614;0.426	P;B;P;B	0.51777	0.679;0.16;0.627;0.309	T	0.56968	-0.7891	10	0.52906	T	0.07	-19.5753	20.5948	0.99439	0.0:0.0:1.0:0.0	.	306;262;363;331	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	N	331;262;363;363;306;297;150;59	ENSP00000365735:D331N;ENSP00000365727:D262N;ENSP00000365703:D363N;ENSP00000365720:D363N;ENSP00000265284:D306N;ENSP00000409313:D297N;ENSP00000417844:D150N;ENSP00000418409:D59N	ENSP00000265284:D306N	D	+	1	0	TLE4	81512907	1.000000	0.71417	0.850000	0.33497	0.982000	0.71751	9.772000	0.98984	2.873000	0.98535	0.563000	0.77884	GAT	TLE4	-	NULL		0.433	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	G	XM_212237		82323087	1	no_errors	ENST00000376520	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82323087	G	A	82323087	3	1	147	1	0	0	0	0	1	0	0	0	15971	1290	45	1	1037	1	TLE4	9	82323087	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2390527	82323087	58890344	559	23813										
NAA35	60560	genome.wustl.edu	37	chr9	88633650	88633650	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ataaatatagccctcctcctCagtctcctgaactgtatgtg	6	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:88633650C>G	ENST00000361671.5	+	21	2084	c.1951C>G	c.(1951-1953)Cag>Gag	p.Q651E		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	651					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CCCTCCTCCTCAGTCTCCTGA	0.388																																																	0													116	120	119					9																	88633650		2203	4300	6503	SO:0001583	missense	60560			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1951C>G	9.37:g.88633650C>G	ENSP00000354972:p.Gln651Glu		Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	pfam_NatC_AcTrfase_Mak10	p.Q651E	ENST00000361671.5	37	c.1951	CCDS6673.1	9	.	.	.	.	.	.	.	.	.	.	C	9.734	1.163144	0.21538	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.5	5.5	0.81552	.	0.120353	0.64402	D	0.000016	T	0.36496	0.0969	N	0.04508	-0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28138	-1.0053	9	0.11182	T	0.66	-8.4641	19.3871	0.94563	0.0:1.0:0.0:0.0	.	651	Q5VZE5	NAA35_HUMAN	E	651	.	ENSP00000354972:Q651E	Q	+	1	0	NAA35	87823470	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.087000	0.71362	2.594000	0.87642	0.491000	0.48974	CAG	NAA35	-	NULL		0.388	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA35	HGNC	protein_coding	OTTHUMT00000052906.1	C	NM_024635		88633650	1	no_errors	ENST00000361671	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88633650	C	G	88633650	3	3	147	1	0	0	0	0	1	0	0	0	10146	827	29	1	2029	1	NAA35	9	88633650	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6310563	88633650	52579781	560	23814										
ROR2	4920	genome.wustl.edu	37	chr9	94495547	94495547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggcgatggtgtactcctggCggcacaggtcgctctccagc	15	13	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:94495547C>T	ENST00000375708.3	-	6	992	c.794G>A	c.(793-795)cGc>cAc	p.R265H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R125H	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	265	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTACTCCTGGCGGCACAGGTC	0.677																																																	0													45	41	42					9																	94495547		2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.794G>A	9.37:g.94495547C>T	ENSP00000364860:p.Arg265His		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R265H	ENST00000375708.3	37	c.794	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263642	0.39995	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76186	-1.0;-1.0	4.44	4.44	0.53790	Frizzled domain (2);Kringle (1);	0.000000	0.39759	N	0.001268	T	0.64605	0.2613	N	0.25485	0.75	0.44780	D	0.997787	B;B;B	0.20780	0.029;0.031;0.048	B;B;B	0.21546	0.013;0.005;0.035	T	0.61501	-0.7050	10	0.37606	T	0.19	.	17.2815	0.87129	0.0:1.0:0.0:0.0	.	265;265;125	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	H	125;265	ENSP00000364867:R125H;ENSP00000364860:R265H	ENSP00000364860:R265H	R	-	2	0	ROR2	93535368	0.999000	0.42202	1.000000	0.80357	0.911000	0.54048	1.034000	0.30204	2.306000	0.77630	0.561000	0.74099	CGC	ROR2	-	pfam_Frizzled_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom		0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94495547	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94495547	C	T	94495547	3	4	147	1	0	0	0	0	1	0	0	0	13557	768	27	2	2053	2	ROR2	9	94495547	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5861897	94495547	46717884	561	23815										
WNK2	65268	genome.wustl.edu	37	chr9	96009920	96009920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagtggcggcgggagaggatCtggcccgcgctgcagcccaa	17	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:96009920C>G	ENST00000297954.4	+	7	1638	c.1638C>G	c.(1636-1638)atC>atG	p.I546M	WNK2_ENST00000395475.2_Missense_Mutation_p.I532M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.I158M|WNK2_ENST00000395477.2_Missense_Mutation_p.I546M|WNK2_ENST00000427277.2_Missense_Mutation_p.I158M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	546					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGAGAGGATCTGGCCCGCGC	0.642																																																	0													27	20	23					9																	96009920		2201	4300	6501	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1638C>G	9.37:g.96009920C>G	ENSP00000297954:p.Ile546Met		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I546M	ENST00000297954.4	37	c.1638		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.55|13.55|13.55	2.270528|2.270528|2.270528	0.40194|0.40194|0.40194	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624|ENST00000432730	T;T;T;T;T;T|.|.	0.70399|.|.	-0.48;-0.39;-0.37;-0.47;0.22;0.23|.|.	5.39|5.39|5.39	3.54|3.54|3.54	0.40534|0.40534|0.40534	.|.|.	0.115474|.|.	0.64402|.|.	D|.|.	0.000017|.|.	T|T|T	0.65026|0.65026|0.65026	0.2652|0.2652|0.2652	M|M|M	0.70595|0.70595|0.70595	2.14|2.14|2.14	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P;P;P;P|.|.	0.46859|.|.	0.885;0.627;0.817;0.885;0.817|.|.	P;B;B;P;B|.|.	0.45610|.|.	0.487;0.216;0.444;0.487;0.292|.|.	T|T|T	0.64114|0.64114|0.64114	-0.6483|-0.6483|-0.6483	10|5|5	0.34782|.|.	T|.|.	0.22|.|.	.|.|.	9.668|9.668|9.668	0.39996|0.39996|0.39996	0.0:0.7346:0.0:0.2654|0.0:0.7346:0.0:0.2654|0.0:0.7346:0.0:0.2654	.|.|.	546;546;149;546;546|.|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	M|V|C	546;546;546;532;158;158|150|542	ENSP00000412465:I546M;ENSP00000297954:I546M;ENSP00000378860:I546M;ENSP00000378858:I532M;ENSP00000297876:I158M;ENSP00000411181:I158M|.|.	ENSP00000297954:I546M|.|.	I|L|S	+|+|+	3|1|2	3|2|0	WNK2|WNK2|WNK2	95049741|95049741|95049741	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.953000|0.953000|0.953000	0.61014|0.61014|0.61014	0.408000|0.408000|0.408000	0.21065|0.21065|0.21065	1.289000|1.289000|1.289000	0.44618|0.44618|0.44618	0.549000|0.549000|0.549000	0.68633|0.68633|0.68633	ATC|CTG|TCT	WNK2	-	NULL		0.642	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	C	NM_006648		96009920	1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	0.997	G	G	96009920	C	G	96009920	3	3	147	1	0	0	0	0	1	0	0	0	17409	903	32	1	1664	1	WNK2	9	96009920	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1514373	96009920	45203511	562	23816										
BARX1	56033	genome.wustl.edu	37	chr9	96715209	96715209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggaaaggtacttctgcttctCgaagcgtttctccaggccca	10	12	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:96715209C>T	ENST00000253968.6	-	2	709	c.484G>A	c.(484-486)Gag>Aag	p.E162K	BARX1_ENST00000401724.1_Missense_Mutation_p.E8K|RP11-231K24.2_ENST00000453045.1_lincRNA	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	162					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						TTCTGCTTCTCGAAGCGTTTC	0.657																																																	0													62	38	46					9																	96715209		2199	4297	6496	SO:0001583	missense	56033				CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"Homeoboxes / ANTP class : NKL subclass"	955	protein-coding gene	gene with protein product		603260	"BarH-like homeobox 1"				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.484G>A	9.37:g.96715209C>T	ENSP00000253968:p.Glu162Lys		Q6P2R4|Q96GH8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.E162K	ENST00000253968.6	37	c.484	CCDS35070.2	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993757	0.93167	.	.	ENSG00000131668	ENST00000253968;ENST00000401724	D;D	0.96168	-3.93;-3.93	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	N	0.20807	0.61	0.58432	D	0.999993	P	0.47545	0.897	P	0.46543	0.52	D	0.92761	0.6224	10	0.40728	T	0.16	.	17.0847	0.86608	0.0:1.0:0.0:0.0	.	162	Q9HBU1	BARX1_HUMAN	K	162;8	ENSP00000253968:E162K;ENSP00000385613:E8K	ENSP00000253968:E162K	E	-	1	0	BARX1	95755030	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.771000	0.47670	2.261000	0.74972	0.561000	0.74099	GAG	BARX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.657	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX1	HGNC	protein_coding	OTTHUMT00000053164.4	C			96715209	-1	no_errors	ENST00000253968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96715209	C	T	96715209	3	4	147	1	0	0	0	0	1	0	0	0	1316	893	31	1	292	1	BARX1	9	96715209	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	705289	96715209	44498222	563	23817										
FBP1	2203	genome.wustl.edu	37	chr9	97369154	97369154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcagggtcaaagtccctggcGtagccctcgttaaggctgta	13	11	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:97369154G>A	ENST00000375326.4	-	5	844	c.648C>T	c.(646-648)taC>taT	p.Y216Y	FBP1_ENST00000415431.1_Silent_p.Y216Y	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	216	Substrate binding.				carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AGTCCCTGGCGTAGCCCTCGT	0.512																																					Ovarian(142;590 2466 25593 44496)												0													125	114	118					9																	97369154		2203	4300	6503	SO:0001819	synonymous_variant	2203			M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.648C>T	9.37:g.97369154G>A			O75571|Q53F94|Q96E46	Silent	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase,prints_SBPase	p.Y216	ENST00000375326.4	37	c.648	CCDS6712.1	9																																																																																			FBP1	-	pfam_FBPase_class-1/SBPase,prints_FBPase_class-1/SBPase		0.512	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP1	HGNC	protein_coding	OTTHUMT00000053187.1	G	NM_000507		97369154	-1	no_errors	ENST00000375326	ensembl	human	known	70_37	silent	SNP	0.837	A	A	97369154	G	A	97369154	2	1	147	1	0	0	0	0	0	0	0	1	5723	1140	40	2		2	FBP1	9	97369154	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	653945	97369154	43844277	564	23818										
C9orf3	84909	genome.wustl.edu	37	chr9	97522144	97522144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acatacttgtgaagcactatGtactggatttggatgtggat	11	5	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:97522144G>C	ENST00000375315.2	+	1	79	c.79G>C	c.(79-81)Gta>Cta	p.V27L	C9orf3_ENST00000297979.5_Missense_Mutation_p.V27L|C9orf3_ENST00000277198.2_Missense_Mutation_p.V27L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	27					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAAGCACTATGTACTGGATTT	0.453																																																	0													79	76	77					9																	97522144		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.79G>C	9.37:g.97522144G>C	ENSP00000364464:p.Val27Leu		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.V27L	ENST00000375315.2	37	c.79	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326530	0.41197	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.04234	3.67;3.67;3.67	4.84	3.93	0.45458	.	0.165435	0.38837	N	0.001541	T	0.07954	0.0199	L	0.59436	1.845	0.80722	D	1	P;B;B;P	0.39601	0.552;0.36;0.433;0.68	B;B;B;B	0.40101	0.17;0.161;0.104;0.319	T	0.21314	-1.0249	10	0.39692	T	0.17	-2.2363	13.6195	0.62128	0.076:0.0:0.924:0.0	.	27;27;27;27	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	L	27	ENSP00000277198:V27L;ENSP00000297979:V27L;ENSP00000364464:V27L	ENSP00000277198:V27L	V	+	1	0	C9orf3	96561965	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	6.050000	0.71063	1.222000	0.43521	0.563000	0.77884	GTA	C9orf3	-	NULL		0.453	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97522144	1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	1.000	C	C	97522144	G	C	97522144	3	2	147	1	0	0	0	0	1	0	0	0	2482	1377	48	4	81	4	C9orf3	9	97522144	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	152990	97522144	43691287	565	23819										
TEX10	54881	genome.wustl.edu	37	chr9	103109610	103109610	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcaattataaatgggtattGagacaaaaggtctttaagtc	8	4	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:103109610G>C	ENST00000374902.4	-	3	435	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q90E|TEX10_ENST00000537512.1_Missense_Mutation_p.Q22E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	87						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AATGGGTATTGAGACAAAAGG	0.343																																																	0													138	148	144					9																	103109610		2203	4300	6503	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.259C>G	9.37:g.103109610G>C	ENSP00000364037:p.Gln87Glu		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q87E	ENST00000374902.4	37	c.259	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	8.864	0.947678	0.18356	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	T;T;T	0.65364	-0.15;-0.15;-0.15	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.510834	0.22203	N	0.063202	T	0.48150	0.1484	L	0.46614	1.455	0.30633	N	0.757259	P;P;P;B	0.38370	0.495;0.495;0.628;0.304	B;B;B;B	0.31016	0.09;0.034;0.123;0.05	T	0.51818	-0.8657	10	0.06494	T	0.89	-7.2734	14.3279	0.66532	0.0:0.0:0.8517:0.1483	.	22;90;87;87	B7Z9D5;B4DYV2;B4DQR0;Q9NXF1	.;.;.;TEX10_HUMAN	E	90;87;87;22	ENSP00000444555:Q90E;ENSP00000364037:Q87E;ENSP00000438120:Q22E	ENSP00000364037:Q87E	Q	-	1	0	TEX10	102149431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.092000	0.41700	2.588000	0.87417	0.591000	0.81541	CAA	TEX10	-	superfamily_ARM-type_fold		0.343	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	G	NM_017746		103109610	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	0.898	C	C	103109610	G	C	103109610	3	2	147	1	0	0	0	0	1	0	0	0	15802	1299	45	1	2582	1	TEX10	9	103109610	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5587466	103109610	38103821	566	23820										
ZNF189	7743	genome.wustl.edu	37	chr9	104170480	104170480	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccgtaaaagaccaaactcaGaagagaaatgccataaatgt	7	8	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:104170480G>C	ENST00000339664.2	+	3	559	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	ZNF189_ENST00000259395.4_Missense_Mutation_p.E102Q|ZNF189_ENST00000374861.3_Missense_Mutation_p.E130Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACCAAACTCAGAAGAGAAATG	0.408																																																	0													68	66	67					9																	104170480		2203	4300	6503	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.430G>C	9.37:g.104170480G>C	ENSP00000342019:p.Glu144Gln		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E144Q	ENST00000339664.2	37	c.430	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041010	0.35989	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.15718	2.4;2.4;2.4	4.66	4.66	0.58398	.	0.000000	0.50627	D	0.000113	T	0.13628	0.0330	L	0.33137	0.985	0.42668	D	0.993501	B;P;B	0.35872	0.038;0.525;0.284	B;B;B	0.28011	0.032;0.085;0.052	T	0.05402	-1.0887	10	0.72032	D	0.01	.	15.8687	0.79091	0.0:0.0:1.0:0.0	.	129;130;144	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	130;144;102	ENSP00000363995:E130Q;ENSP00000342019:E144Q;ENSP00000259395:E102Q	ENSP00000259395:E102Q	E	+	1	0	ZNF189	103210301	0.825000	0.29262	1.000000	0.80357	0.971000	0.66376	0.923000	0.28757	2.873000	0.98535	0.563000	0.77884	GAA	ZNF189	-	NULL		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	G	NM_003452		104170480	1	no_errors	ENST00000339664	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104170480	G	C	104170480	3	2	147	1	0	0	0	0	1	0	0	0	17784	943	33	1	440	1	ZNF189	9	104170480	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1060870	104170480	37042951	567	23821										
GRIN3A	116443	genome.wustl.edu	37	chr9	104448997	104448997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtggctacagctcttgcgacCagctccatagcatcttgtac	9	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:104448997C>T	ENST00000361820.3	-	2	1785	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	395					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTCTTGCGACCAGCTCCATAG	0.498																																																	0													125	94	105					9																	104448997		2203	4300	6503	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1185G>A	9.37:g.104448997C>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.L395	ENST00000361820.3	37	c.1185	CCDS6758.1	9																																																																																			GRIN3A	-	NULL		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	C			104448997	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	silent	SNP	1.000	T	T	104448997	C	T	104448997	2	4	147	1	0	0	0	0	0	0	0	1	6803	581	21	4		4	GRIN3A	9	104448997	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	278517	104448997	36764434	568	23822										
ACTL7A	10881	genome.wustl.edu	37	chr9	111625727	111625727	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcttccctaaccgtctgcaGaaggagctaagcagcatgtg	12	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:111625727G>A	ENST00000333999.3	+	1	1125	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	375						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCGTCTGCAGAAGGAGCTAA	0.592																																					Esophageal Squamous(177;1480 3591 17554)												0													118	93	101					9																	111625727		2203	4300	6503	SO:0001819	synonymous_variant	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1125G>A	9.37:g.111625727G>A			B2RC83|Q5JSV0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Q375	ENST00000333999.3	37	c.1125	CCDS6772.1	9																																																																																			ACTL7A	-	pfam_Actin-like,smart_Actin-like		0.592	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	G	NM_006687		111625727	1	no_errors	ENST00000333999	ensembl	human	known	70_37	silent	SNP	1.000	A	A	111625727	G	A	111625727	2	1	147	1	0	0	0	0	0	0	0	1	200	933	33	1		1	ACTL7A	9	111625727	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7176730	111625727	29587704	569	23823										
ROD1	9991	genome.wustl.edu	37	chr9	114986244	114986244	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacagatcccaattgaatgaGcgccattttgcgatctttcc	7	12	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:114986244G>C	ENST00000374255.2	-	15	1693	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V	PTBP3_ENST00000458258.1_Missense_Mutation_p.L522V|PTBP3_ENST00000343327.2_Missense_Mutation_p.L421V|PTBP3_ENST00000334318.6_Missense_Mutation_p.L519V|PTBP3_ENST00000374257.1_Missense_Mutation_p.L488V			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	516	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AATTGAATGAGCGCCATTTTG	0.403																																																	0													105	103	104					9																	114986244		2203	4300	6503	SO:0001583	missense	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1546C>G	9.37:g.114986244G>C	ENSP00000363373:p.Leu516Val		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L522V	ENST00000374255.2	37	c.1564	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708356	0.68615	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.42921	0.1224	M	0.89414	3.03	0.80722	D	1	P;D;D;D;D	0.58970	0.939;0.974;0.972;0.97;0.984	D;D;D;D;D	0.73708	0.935;0.935;0.981;0.935;0.978	T	0.43360	-0.9396	9	0.66056	D	0.02	-3.469	20.0522	0.97631	0.0:0.0:1.0:0.0	.	488;421;519;516;522	B1ALY5;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	V	488;519;522;516;421	ENSP00000363375:L488V;ENSP00000334499:L519V;ENSP00000414921:L522V;ENSP00000363373:L516V;ENSP00000340705:L421V	ENSP00000334499:L519V	L	-	1	0	ROD1	114026065	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	7.939000	0.87685	2.737000	0.93849	0.563000	0.77884	CTC	PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.403	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	G			114986244	-1	no_errors	ENST00000458258	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114986244	G	C	114986244	3	2	147	1	0	0	0	0	1	0	0	0	13549	971	34	4	116	4	ROD1	9	114986244	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3360517	114986244	26227187	570	23824										
DFNB31	25861	genome.wustl.edu	37	chr9	117165054	117165054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctagagcatcacattgaactCagtgaccagaaagtcaatgt	8	9	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117165054C>G	ENST00000362057.3	-	12	2872	c.2704G>C	c.(2704-2706)Gag>Cag	p.E902Q	DFNB31_ENST00000374059.3_Missense_Mutation_p.E551Q|DFNB31_ENST00000265134.6_Missense_Mutation_p.E519Q	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	902					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACATTGAACTCAGTGACCAGA	0.602																																																	0													87	82	83					9																	117165054		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2704G>C	9.37:g.117165054C>G	ENSP00000354623:p.Glu902Gln		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E902Q	ENST00000362057.3	37	c.2704	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	c	26.8	4.773763	0.90108	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.15372	3.4;3.34;2.43	4.69	4.69	0.59074	PDZ/DHR/GLGF (2);	0.062773	0.64402	D	0.000008	T	0.41994	0.1183	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.987;0.987;0.988	T	0.39292	-0.9621	10	0.72032	D	0.01	-28.0009	17.9846	0.89152	0.0:1.0:0.0:0.0	.	901;902;551	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	Q	519;551;902	ENSP00000265134:E519Q;ENSP00000363172:E551Q;ENSP00000354623:E902Q	ENSP00000265134:E519Q	E	-	1	0	DFNB31	116204875	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	7.107000	0.77047	2.293000	0.77203	0.651000	0.88453	GAG	DFNB31	-	superfamily_PDZ,smart_PDZ		0.602	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404		117165054	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117165054	C	G	117165054	3	3	147	1	0	0	0	0	1	0	0	0	4465	835	29	1	23	1	DFNB31	9	117165054	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2178810	117165054	24048377	571	23825										
DFNB31	25861	genome.wustl.edu	37	chr9	117165217	117165217	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgtgagctgagccgcctctCtgcagggaggagacacaggg	16	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117165217C>T	ENST00000362057.3	-	12	2710		c.e12-1		DFNB31_ENST00000374059.3_Splice_Site|DFNB31_ENST00000265134.6_Splice_Site	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCGCCTCTCTGCAGGGAGG	0.627																																																	0													24	21	22					9																	117165217		2203	4300	6503	SO:0001630	splice_region_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2542-1G>A	9.37:g.117165217C>T			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Splice_Site	SNP	-	e12-1	ENST00000362057.3	37	c.2542-1	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966626	0.74131	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1172	0.89559	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DFNB31	116205038	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.109000	0.77062	2.323000	0.78572	0.655000	0.94253	.	DFNB31	-	-		0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404	Intron	117165217	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	117165217	C	T	117165217	5	4	147	1	0	0	0	0	0	0	1	0	4465	927	32	1	186	1	DFNB31	9	117165217	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	163	117165217	24048214	572	23826										
DFNB31	25861	genome.wustl.edu	37	chr9	117165578	117165578	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccagggtggccgcacttttCttcacacggaccagagtgga	12	13	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117165578C>T	ENST00000362057.3	-	11	2628	c.2460G>A	c.(2458-2460)aaG>aaA	p.K820K	DFNB31_ENST00000374059.3_Silent_p.K469K|DFNB31_ENST00000265134.6_Silent_p.K437K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	820	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGCACTTTTCTTCACACGGA	0.637																																																	0													57	61	60					9																	117165578		2203	4300	6503	SO:0001819	synonymous_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2460G>A	9.37:g.117165578C>T			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K820	ENST00000362057.3	37	c.2460	CCDS6806.1	9																																																																																			DFNB31	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404		117165578	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	silent	SNP	0.989	T	T	117165578	C	T	117165578	2	4	147	1	0	0	0	0	0	0	0	1	4465	912	32	1		1	DFNB31	9	117165578	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	361	117165578	24047853	573	23827										
DFNB31	25861	genome.wustl.edu	37	chr9	117240927	117240927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgtggggctggggcaggcccGagggtggggagatgctgcgg	24	8	0	1	rs141863996		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117240927G>A	ENST00000362057.3	-	2	911	c.743C>T	c.(742-744)tCg>tTg	p.S248L	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.S248L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	248					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S248L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCAGGCCCGAGGGTGGGGA	0.662																																																	1	Substitution - Missense(1)	urinary_tract(1)						G	,LEU/SER,LEU/SER	0,4406		0,0,2203	31	31	31		,743,743	3.5	0	9	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	yes	utr-5,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	,145,145	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,248/907,248/908	117240927	1,13003	2203	4299	6502	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.743C>T	9.37:g.117240927G>A	ENSP00000354623:p.Ser248Leu		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S248L	ENST00000362057.3	37	c.743	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865656	0.32977	0.0	1.16E-4	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.17213	3.02;2.29	5.41	3.47	0.39725	.	0.514979	0.20773	N	0.085934	T	0.10294	0.0252	L	0.36672	1.1	0.09310	N	1	P;B;B	0.44816	0.844;0.242;0.157	B;B;B	0.30316	0.114;0.023;0.023	T	0.27571	-1.0070	10	0.44086	T	0.13	-6.6304	10.453	0.44533	0.0773:0.2373:0.6854:0.0	.	248;248;248	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	L	248	ENSP00000354623:S248L;ENSP00000363170:S248L	ENSP00000354623:S248L	S	-	2	0	DFNB31	116280748	0.112000	0.22096	0.030000	0.17652	0.654000	0.38779	2.686000	0.46968	2.533000	0.85409	0.455000	0.32223	TCG	DFNB31	-	NULL		0.662	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	G	NM_015404		117240927	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	0.002	A	A	117240927	G	A	117240927	3	1	147	1	0	0	0	0	1	0	0	0	4465	1059	37	1	2024	1	DFNB31	9	117240927	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	75349	117240927	23972504	574	23828										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123253644	123253644	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgtttgatcacttgctcttGattgtgcaattttttattgc	7	6	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:123253644G>C	ENST00000349780.4	-	13	1602	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q475E|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q475E|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q475E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	475					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACTTGCTCTTGATTGTGCAAT	0.333																																																	0													206	183	191					9																	123253644		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1423C>G	9.37:g.123253644G>C	ENSP00000343818:p.Gln475Glu		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.Q475E	ENST00000349780.4	37	c.1423	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	8.996	0.979030	0.18812	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.76	4.85	0.62838	.	0.326007	0.26522	N	0.023909	T	0.42359	0.1199	M	0.62723	1.935	0.23003	N	0.998444	B;B;P;B	0.39601	0.176;0.176;0.68;0.11	B;B;B;B	0.42030	0.037;0.037;0.373;0.016	T	0.36696	-0.9737	10	0.08599	T	0.76	.	15.0866	0.72158	0.0:0.1413:0.8587:0.0	.	276;475;475;475	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	E	475;475;475;475;477	ENSP00000354065:Q475E;ENSP00000352258:Q475E;ENSP00000343818:Q475E;ENSP00000353317:Q475E	ENSP00000341695:Q477E	Q	-	1	0	CDK5RAP2	122293465	1.000000	0.71417	0.032000	0.17829	0.068000	0.16541	3.418000	0.52721	1.411000	0.46957	0.650000	0.86243	CAA	CDK5RAP2	-	NULL		0.333	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	G	NM_018249		123253644	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.639	C	C	123253644	G	C	123253644	3	2	147	1	0	0	0	0	1	0	0	0	3151	1299	45	1	4362	1	CDK5RAP2	9	123253644	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6012717	123253644	17959787	575	23829										
MEGF9	1955	genome.wustl.edu	37	chr9	123370233	123370233	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttcacatttattgcagttCgggcctatgtaaccatcttt	6	9	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:123370233C>T	ENST00000373930.3	-	5	1254	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	MEGF9_ENST00000426959.1_Silent_p.P418P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	381	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TATTGCAGTTCGGGCCTATGT	0.393																																																	0													135	127	129					9																	123370233		1886	4106	5992	SO:0001819	synonymous_variant	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1143G>A	9.37:g.123370233C>T			B7Z315|O75098	Silent	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.P418	ENST00000373930.3	37	c.1254	CCDS48010.2	9																																																																																			MEGF9	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin		0.393	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	C	NM_001080497		123370233	-1	no_errors	ENST00000426959	ensembl	human	known	70_37	silent	SNP	0.803	T	T	123370233	C	T	123370233	2	4	147	1	0	0	0	0	0	0	0	1	9487	871	31	1		1	MEGF9	9	123370233	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	116589	123370233	17843198	576	23830										
CEP110	11064	genome.wustl.edu	37	chr9	123914769	123914769	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccatctcattcaggagaatGaagtttctagattagaagac	8	8	3	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:123914769G>A	ENST00000373855.1	+	26	4230	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E772K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E772K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1324K			Q7Z7A1	CNTRL_HUMAN	centriolin	1324					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TCAGGAGAATGAAGTTTCTAG	0.408																																																	0													71	76	74					9																	123914769		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3970G>A	9.37:g.123914769G>A	ENSP00000362962:p.Glu1324Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1324K	ENST00000373855.1	37	c.3970	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884680	0.91814	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.49	5.49	0.81192	.	.	.	.	.	T	0.55721	0.1938	M	0.66939	2.045	0.51012	D	0.999908	D	0.69078	0.997	D	0.75020	0.985	T	0.54984	-0.8211	9	0.59425	D	0.04	.	18.7282	0.91722	0.0:0.0:1.0:0.0	.	1324	Q7Z7A1	CNTRL_HUMAN	K	1324;1324;1324;80;772;772	ENSP00000362962:E1324K;ENSP00000238341:E1324K;ENSP00000362956:E772K;ENSP00000362953:E772K	ENSP00000238341:E1324K	E	+	1	0	CNTRL	122954590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.473000	0.73572	2.734000	0.93682	0.655000	0.94253	GAA	CNTRL	-	NULL		0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123914769	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123914769	G	A	123914769	3	1	147	1	0	0	0	0	1	0	0	0	3250	1291	45	1	4064	1	CEP110	9	123914769	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	544536	123914769	17298662	577	23831										
RC3H2	54542	genome.wustl.edu	37	chr9	125639816	125639816	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtggacaacccccttgctgtCgcaaatctcggcacatgcta	9	14	1	0	rs374834754		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:125639816C>G	ENST00000373670.1	-	8	1859	c.1259G>C	c.(1258-1260)cGa>cCa	p.R420P	RC3H2_ENST00000335387.5_Missense_Mutation_p.R420P|RC3H2_ENST00000423239.2_Missense_Mutation_p.R420P|RC3H2_ENST00000373665.2_Missense_Mutation_p.R420P|RC3H2_ENST00000357244.2_Missense_Mutation_p.R420P|SNORD90_ENST00000391145.1_RNA			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	420					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCCTTGCTGTCGCAAATCTCG	0.418																																																	0													267	260	262					9																	125639816		1895	4119	6014	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1259G>C	9.37:g.125639816C>G	ENSP00000362774:p.Arg420Pro		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R420P	ENST00000373670.1	37	c.1259	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432337	0.83776	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.54	5.54	0.83059	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.76574	2.34	0.43230	D	0.995125	P;D;D;D	0.63880	0.625;0.967;0.993;0.991	P;P;P;P	0.61533	0.579;0.869;0.89;0.759	T	0.62416	-0.6859	10	0.59425	D	0.04	-5.3385	11.8819	0.52579	0.0:0.9207:0.0:0.0793	.	420;291;420;420	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	P	420;420;291;420;420;420	ENSP00000362774:R420P;ENSP00000349783:R420P;ENSP00000411767:R420P;ENSP00000362769:R420P;ENSP00000335150:R420P	ENSP00000335150:R420P	R	-	2	0	RC3H2	124679637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.673000	0.46858	2.627000	0.88993	0.637000	0.83480	CGA	RC3H2	-	pfam_Znf_CCCH,smart_Znf_CCCH		0.418	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125639816	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125639816	C	G	125639816	3	3	147	1	0	0	0	0	1	0	0	0	13197	884	31	1	2446	1	RC3H2	9	125639816	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1725047	125639816	15573615	578	23832										
DPM2	8818	genome.wustl.edu	37	chr9	130698034	130698034	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttggtcactctcttggtcttCagcatcacataggagatgaa	9	9	5	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130698034C>A	ENST00000314392.8	-	4	885	c.222G>T	c.(220-222)ctG>ctT	p.L74L	RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	74					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						TCTTGGTCTTCAGCATCACAT	0.572																																																	0													133	112	119					9																	130698034		2203	4300	6503	SO:0001819	synonymous_variant	8818			AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.222G>T	9.37:g.130698034C>A			Q5XKK9|Q6FGH3	Silent	SNP	pfam_DPM2	p.L74	ENST00000314392.8	37	c.222	CCDS6886.1	9																																																																																			DPM2	-	pfam_DPM2		0.572	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM2	HGNC	protein_coding	OTTHUMT00000054324.1	C	NM_003863		130698034	-1	no_errors	ENST00000314392	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130698034	C	A	130698034	2	1	147	1	0	0	0	0	0	0	0	1	4735	813	29	3		3	DPM2	9	130698034	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5058218	130698034	10515397	579	23833										
NAIF1	203245	genome.wustl.edu	37	chr9	130825812	130825812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtagcggcggaaatctttGatcataggccggaggacctg	15	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130825812G>A	ENST00000373078.4	-	2	1098	c.879C>T	c.(877-879)atC>atT	p.I293I	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	293					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAATCTTTGATCATAGGCC	0.657																																																	0													62	66	65					9																	130825812		2203	4300	6503	SO:0001819	synonymous_variant	203245			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.879C>T	9.37:g.130825812G>A			B3KV81|Q8WU12	Silent	SNP	NULL	p.I293	ENST00000373078.4	37	c.879	CCDS6889.1	9																																																																																			NAIF1	-	NULL		0.657	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	G	NM_197956		130825812	-1	no_errors	ENST00000373078	ensembl	human	known	70_37	silent	SNP	0.458	A	A	130825812	G	A	130825812	2	1	147	1	0	0	0	0	0	0	0	1	10169	1280	45	1		1	NAIF1	9	130825812	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	127778	130825812	10387619	580	23834										
CERCAM	51148	genome.wustl.edu	37	chr9	131196417	131196417	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggcccgggtcctggtgtttGaggatgacgtgcgctttgag	17	8	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:131196417G>A	ENST00000372838.4	+	10	1638	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CERCAM_ENST00000372842.1_Missense_Mutation_p.E336K|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	414					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTGGTGTTTGAGGATGACGT	0.607																																																	0													63	62	62					9																	131196417		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1240G>A	9.37:g.131196417G>A	ENSP00000361929:p.Glu414Lys		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.E414K	ENST00000372838.4	37	c.1240	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	37	6.354729	0.97498	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.98264	-4.62;-4.83	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	-11.1865	18.4778	0.90799	0.0:0.0:1.0:0.0	.	414	Q5T4B2	GT253_HUMAN	K	336;414;367	ENSP00000361933:E336K;ENSP00000361929:E414K	ENSP00000361929:E414K	E	+	1	0	CERCAM	130236238	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.721000	0.98766	2.700000	0.92200	0.655000	0.94253	GAG	CERCAM	-	pfam_Glyco_trans_25		0.607	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131196417	1	no_errors	ENST00000372838	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131196417	G	A	131196417	3	1	147	1	0	0	0	0	1	0	0	0	3271	1291	45	1	1278	1	CERCAM	9	131196417	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	370605	131196417	10017014	581	23835										
C9orf114	51490	genome.wustl.edu	37	chr9	131591057	131591057	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctcctcctcttccaggcgCtttgcctgttcctcctgtgc	8	18	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:131591057C>G	ENST00000361256.5	-	3	205	c.165G>C	c.(163-165)aaG>aaC	p.K55N		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	55							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTTCCAGGCGCTTTGCCTGTT	0.562																																																	0													103	107	105					9																	131591057		2203	4300	6503	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.165G>C	9.37:g.131591057C>G	ENSP00000354812:p.Lys55Asn		Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.K55N	ENST00000361256.5	37	c.165	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820113	0.50633	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.24151	1.87	5.11	3.2	0.36748	.	0.523000	0.23127	N	0.051637	T	0.26702	0.0653	M	0.64997	1.995	0.31183	N	0.70184	P;B	0.43094	0.799;0.421	B;B	0.42692	0.395;0.154	T	0.21109	-1.0255	10	0.36615	T	0.2	-13.2926	8.1844	0.31330	0.0:0.6899:0.0:0.3101	.	55;55	E7ESY7;Q5T280	.;CI114_HUMAN	N	55	ENSP00000354812:K55N	ENSP00000354812:K55N	K	-	3	2	C9orf114	130630878	0.193000	0.23313	0.967000	0.41034	0.772000	0.43724	0.128000	0.15810	1.248000	0.43934	0.561000	0.74099	AAG	C9orf114	-	NULL		0.562	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	C	NM_016390		131591057	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	missense	SNP	0.904	G	G	131591057	C	G	131591057	3	3	147	1	0	0	0	0	1	0	0	0	2454	796	28	4	1005	4	C9orf114	9	131591057	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	394640	131591057	9622374	582	23836										
PTGES	9536	genome.wustl.edu	37	chr9	132510990	132510990	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tactgggggcctccgtgtctCagggcatcctcggggttggc	16	12	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:132510990C>G	ENST00000340607.4	-	2	187	c.153G>C	c.(151-153)ctG>ctC	p.L51L	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	51					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCCGTGTCTCAGGGCATCCT	0.612																																																	0													52	44	47					9																	132510990		2203	4300	6503	SO:0001819	synonymous_variant	9536			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.153G>C	9.37:g.132510990C>G			O14900|Q5SZC0	Silent	SNP	pfam_Membr-assoc_MAPEG	p.L51	ENST00000340607.4	37	c.153	CCDS6927.1	9																																																																																			PTGES	-	pfam_Membr-assoc_MAPEG		0.612	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES	HGNC	protein_coding	OTTHUMT00000054599.2	C	NM_004878		132510990	-1	no_errors	ENST00000340607	ensembl	human	known	70_37	silent	SNP	1.000	G	G	132510990	C	G	132510990	2	3	147	1	0	0	0	0	0	0	0	1	12774	813	29	1		1	PTGES	9	132510990	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	919933	132510990	8702441	583	23837										
RAPGEF1	2889	genome.wustl.edu	37	chr9	134459713	134459713	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcacctctgaagtctgcttCtgccactccagcctgcggat	8	16	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:134459713C>T	ENST00000372189.3	-	21	2964	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	RAPGEF1_ENST00000372190.3_Silent_p.Q965Q|RAPGEF1_ENST00000372195.1_Silent_p.Q964Q	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	947	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AAGTCTGCTTCTGCCACTCCA	0.642																																																	0													22	27	25					9																	134459713		1988	4163	6151	SO:0001819	synonymous_variant	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2841G>A	9.37:g.134459713C>T			Q5JUE4|Q8IV73	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q965	ENST00000372189.3	37	c.2895	CCDS48047.1	9																																																																																			RAPGEF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.642	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	C	NM_005312		134459713	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134459713	C	T	134459713	2	4	147	1	0	0	0	0	0	0	0	1	13073	912	32	1		1	RAPGEF1	9	134459713	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1948723	134459713	6753718	584	23838										
C9orf98	158067	genome.wustl.edu	37	chr9	135703409	135703409	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgtagccatacctccagtttGagggtcgattctcttcccca	8	14	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:135703409G>C	ENST00000298545.3	-	7	1068	c.547C>G	c.(547-549)Caa>Gaa	p.Q183E	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	183	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CCTCCAGTTTGAGGGTCGATT	0.557																																																	0													82	58	67					9																	135703409		2201	4291	6492	SO:0001583	missense	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.547C>G	9.37:g.135703409G>C	ENSP00000298545:p.Gln183Glu		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.Q183E	ENST00000298545.3	37	c.547	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776833	0.00640	.	.	ENSG00000165695	ENST00000298545	T	0.65364	-0.15	5.78	-1.45	0.08828	Adenylate kinase, active site lid domain (1);	1.419950	0.03999	N	0.296249	T	0.35998	0.0951	N	0.13235	0.315	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.24512	-1.0158	10	0.02654	T	1	0.0133	2.274	0.04097	0.2513:0.3272:0.3104:0.1111	.	183	Q96MA6	KAD8_HUMAN	E	183	ENSP00000298545:Q183E	ENSP00000298545:Q183E	Q	-	1	0	AK8	134693230	0.000000	0.05858	0.040000	0.18447	0.007000	0.05969	-0.240000	0.08952	-0.110000	0.12022	-0.251000	0.11542	CAA	AK8	-	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	G	NM_152572		135703409	-1	no_errors	ENST00000298545	ensembl	human	known	70_37	missense	SNP	0.003	C	C	135703409	G	C	135703409	3	2	147	1	0	0	0	0	1	0	0	0	2514	1299	45	1	920	1	C9orf98	9	135703409	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1243696	135703409	5510022	585	23839										
TSC1	7248	genome.wustl.edu	37	chr9	135797308	135797308	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attccataaaggcgatgaaaGagtgcgtacacactggcatg	11	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:135797308G>C	ENST00000298552.3	-	7	782	c.561C>G	c.(559-561)ctC>ctG	p.L187L	TSC1_ENST00000403810.1_Silent_p.L187L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Silent_p.L187L|TSC1_ENST00000545250.1_Silent_p.L136L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	187					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)|p.L187L(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGCGATGAAAGAGTGCGTACA	0.463			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Unknown(1)|Substitution - coding silent(1)	breast(1)|bone(1)											138	131	133					9																	135797308		2203	4300	6503	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.561C>G	9.37:g.135797308G>C			B7Z897|Q5VVN5	Silent	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.L187	ENST00000298552.3	37	c.561	CCDS6956.1	9																																																																																			TSC1	-	pfam_Hamartin		0.463	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	G			135797308	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	silent	SNP	0.998	C	C	135797308	G	C	135797308	2	2	147	1	0	0	0	0	0	0	0	1	16636	929	33	1		1	TSC1	9	135797308	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	93899	135797308	5416123	586	23840										
OBP2B	29989	genome.wustl.edu	37	chr9	136081736	136081736	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgaaaatgtcctcctccgaGagtcccttgcgctgcaccaa	9	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:136081736G>C	ENST00000372034.3	-	5	497	c.456C>G	c.(454-456)ctC>ctG	p.L152L	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	152					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCTCCTCCGAGAGTCCCTTGC	0.587																																																	0													150	140	143					9																	136081736		2203	4300	6503	SO:0001819	synonymous_variant	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.456C>G	9.37:g.136081736G>C			Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth	p.L152	ENST00000372034.3	37	c.456	CCDS6961.1	9																																																																																			OBP2B	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth		0.587	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	G	NM_014581		136081736	-1	no_errors	ENST00000372034	ensembl	human	known	70_37	silent	SNP	0.013	C	C	136081736	G	C	136081736	2	2	147	1	0	0	0	0	0	0	0	1	10835	929	33	1		1	OBP2B	9	136081736	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	284428	136081736	5131695	587	23841										
SNAPC4	6621	genome.wustl.edu	37	chr9	139286555	139286555	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctgcactgcggctgccttCaaactgcaccgacagagaca	9	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139286555C>G	ENST00000298532.2	-	9	1182	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGCTGCCTTCAAACTGCACC	0.632																																																	0													91	84	86					9																	139286555		2203	4300	6503	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.814G>C	9.37:g.139286555C>G	ENSP00000298532:p.Glu272Gln			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E272Q	ENST00000298532.2	37	c.814	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184222	0.78677	.	.	ENSG00000165684	ENST00000298532	T	0.25085	1.82	5.79	5.79	0.91817	SANT domain, DNA binding (1);Homeodomain-like (1);MYB-like (1);	0.103647	0.64402	D	0.000005	T	0.48926	0.1527	L	0.59436	1.845	0.49483	D	0.999793	D	0.76494	0.999	D	0.68943	0.961	T	0.33879	-0.9851	10	0.52906	T	0.07	-22.2736	19.0203	0.92912	0.0:1.0:0.0:0.0	.	272	Q5SXM2	SNPC4_HUMAN	Q	272	ENSP00000298532:E272Q	ENSP00000298532:E272Q	E	-	1	0	SNAPC4	138406376	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	6.885000	0.75606	2.728000	0.93425	0.655000	0.94253	GAA	SNAPC4	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.632	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	C	NM_003086		139286555	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	missense	SNP	1.000	G	G	139286555	C	G	139286555	3	3	147	1	0	0	0	0	1	0	0	0	14867	835	29	1	3651	1	SNAPC4	9	139286555	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3204819	139286555	1926876	588	23842										
SNAPC4	6621	genome.wustl.edu	37	chr9	139287211	139287211	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggagactttgctctgcttCtggtgcaagtactcgagcct	11	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139287211C>T	ENST00000298532.2	-	7	1019	c.651G>A	c.(649-651)caG>caA	p.Q217Q		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGCTCTGCTTCTGGTGCAAGT	0.622																																																	0													46	45	46					9																	139287211		2203	4300	6503	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.651G>A	9.37:g.139287211C>T				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q217	ENST00000298532.2	37	c.651	CCDS6998.1	9																																																																																			SNAPC4	-	smart_SANT/Myb		0.622	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	C	NM_003086		139287211	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	silent	SNP	1.000	T	T	139287211	C	T	139287211	2	4	147	1	0	0	0	0	0	0	0	1	14867	912	32	1		1	SNAPC4	9	139287211	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	656	139287211	1926220	589	23843										
SEC16A	9919	genome.wustl.edu	37	chr9	139357926	139357926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaacataccccattttgtcTgcataagagaacaataaaat	5	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139357926T>C	ENST00000371706.3	-	9	4135	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	SEC16A_ENST00000290037.6_Missense_Mutation_p.R1368G|SEC16A_ENST00000431893.2_Missense_Mutation_p.R1368G|SEC16A_ENST00000313050.7_Missense_Mutation_p.R1546G			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1368					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCATTTTGTCTGCATAAGAGA	0.398																																																	0													82	81	81					9																	139357926		1861	4098	5959	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4102A>G	9.37:g.139357926T>C	ENSP00000360771:p.Arg1368Gly		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.R1546G	ENST00000371706.3	37	c.4636		9	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612818	0.46631	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.94	4.78	0.61160	.	0.044485	0.85682	D	0.000000	T	0.66336	0.2779	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.91635	0.985;0.998;0.995;0.999	T	0.70110	-0.4962	10	0.66056	D	0.02	-25.3132	11.3471	0.49567	0.0:0.0:0.2902:0.7098	.	1546;1368;1368;936	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	G	1546;268;1368;1368;1368;936	ENSP00000325827:R1546G;ENSP00000403525:R268G;ENSP00000360771:R1368G;ENSP00000290037:R1368G;ENSP00000387583:R1368G	ENSP00000290037:R1368G	R	-	1	2	SEC16A	138477747	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	1.196000	0.32198	1.035000	0.39972	0.528000	0.53228	AGA	SEC16A	-	NULL		0.398	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	T	XM_088459		139357926	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139357926	T	C	139357926	3	2	147	1	0	0	0	0	1	0	0	0	14016	1588	55	5	2525	5	SEC16A	9	139357926	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	70715	139357926	1855505	590	23844										
SEC16A	9919	genome.wustl.edu	37	chr9	139368804	139368804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctgggcctgtccctgtgcGggcagactttctggatttga	13	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139368804G>A	ENST00000371706.3	-	1	2763	c.2730C>T	c.(2728-2730)ccC>ccT	p.P910P	SEC16A_ENST00000290037.6_Silent_p.P910P|SEC16A_ENST00000431893.2_Silent_p.P910P|SEC16A_ENST00000313050.7_Silent_p.P1088P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	910					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCCCTGTGCGGGCAGACTTT	0.607																																																	0													21	25	24					9																	139368804		2012	4177	6189	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2730C>T	9.37:g.139368804G>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.P1088	ENST00000371706.3	37	c.3264		9																																																																																			SEC16A	-	NULL		0.607	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139368804	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	silent	SNP	0.000	A	A	139368804	G	A	139368804	2	1	147	1	0	0	0	0	0	0	0	1	14016	1103	39	2		2	SEC16A	9	139368804	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	10878	139368804	1844627	591	23845										
SEC16A	9919	genome.wustl.edu	37	chr9	139369984	139369984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatacacagtatccaagggcGgtgcccctgcgtgcggaagc	14	12	0	0	rs368747402		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139369984G>A	ENST00000371706.3	-	1	1583	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	SEC16A_ENST00000290037.6_Missense_Mutation_p.P517L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P517L|SEC16A_ENST00000313050.7_Missense_Mutation_p.P695L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	517					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCAAGGGCGGTGCCCCTGC	0.622																																																	0								G	LEU/PRO	0,4030		0,0,2015	31	36	34		2084	2.3	0	9		34	1,8335		0,1,4167	no	missense	SEC16A	NM_014866.1	98	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	695/2358	139369984	1,12365	2015	4168	6183	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1550C>T	9.37:g.139369984G>A	ENSP00000360771:p.Pro517Leu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P695L	ENST00000371706.3	37	c.2084		9	.	.	.	.	.	.	.	.	.	.	G	7.361	0.624823	0.14193	0.0	1.2E-4	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.19	2.33	0.28932	.	0.332135	0.31495	N	0.007541	T	0.30417	0.0764	M	0.66939	2.045	0.09310	N	0.999998	B;B;B;B	0.18968	0.014;0.023;0.023;0.032	B;B;B;B	0.12156	0.003;0.007;0.007;0.004	T	0.30416	-0.9979	10	0.87932	D	0	-3.6166	9.5682	0.39411	0.2301:0.0:0.7699:0.0	.	695;517;517;322	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	L	695;517;517;517;322	ENSP00000325827:P695L;ENSP00000360771:P517L;ENSP00000290037:P517L;ENSP00000387583:P517L	ENSP00000290037:P517L	P	-	2	0	SEC16A	138489805	0.027000	0.19231	0.000000	0.03702	0.049000	0.14656	1.277000	0.33167	0.290000	0.22444	0.650000	0.86243	CCG	SEC16A	-	NULL		0.622	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139369984	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.000	A	A	139369984	G	A	139369984	3	1	147	1	0	0	0	0	1	0	0	0	14016	1116	39	2	5109	2	SEC16A	9	139369984	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1180	139369984	1843447	592	23846										
TMEM141	85014	genome.wustl.edu	37	chr9	139686777	139686777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acaacctctggctcttcctgGagaccgggcagctccccaaa	9	16	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139686777G>T	ENST00000290079.8	+	4	296	c.280G>T	c.(280-282)Gag>Tag	p.E94*	RP11-216L13.17_ENST00000456614.2_Nonsense_Mutation_p.E69*|TMEM141_ENST00000465017.1_3'UTR	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	94						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		GCTCTTCCTGGAGACCGGGCA	0.592											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41	39	40					9																	139686777		2195	4294	6489	SO:0001587	stop_gained	85014			BC007834	CCDS7007.1	9q34.3	2009-11-13			ENSG00000244187	ENSG00000244187			28211	protein-coding gene	gene with protein product							Standard	NM_032928		Approved	MGC14141	uc004cje.4	Q96I45	OTTHUMG00000020945	ENST00000290079.8:c.280G>T	9.37:g.139686777G>T	ENSP00000290079:p.Glu94*	1650	A6NIZ7|Q5T5R5	Nonsense_Mutation	SNP	NULL	p.E94*	ENST00000290079.8	37	c.280	CCDS7007.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075475	0.76415	.	.	ENSG00000244187	ENST00000290079	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5642	0.61807	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000290079:E94X	E	+	1	0	TMEM141	138806598	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.831000	0.55776	2.255000	0.74692	0.313000	0.20887	GAG	TMEM141	-	NULL		0.592	TMEM141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM141	HGNC	protein_coding	OTTHUMT00000055119.1	G	NM_032928		139686777	1	no_errors	ENST00000290079	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	139686777	G	T	139686777	4	4	147	1	0	0	0	0	0	1	0	0	16086	1175	41	3	294	3	TMEM141	9	139686777	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	316793	139686777	1526654	593	23847										
EDF1	8721	genome.wustl.edu	37	chr9	139757835	139757835	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctgtcatggtgcagctcctCtgtctcccggtccagcttgg	11	15	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139757835C>T	ENST00000224073.1	-	3	223	c.196G>A	c.(196-198)Gag>Aag	p.E66K	EDF1_ENST00000371648.4_Missense_Mutation_p.E66K|EDF1_ENST00000371649.1_Missense_Mutation_p.E66K	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	66	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCAGCTCCTCTGTCTCCCGG	0.592																																																	0													148	110	123					9																	139757835		2203	4300	6503	SO:0001583	missense	8721			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.196G>A	9.37:g.139757835C>T	ENSP00000224073:p.Glu66Lys		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	pfam_MBF1_N,pfam_HTH_3,superfamily_Lambda_DNA-bd_dom,smart_HTH_3,pfscan_HTH_3	p.E66K	ENST00000224073.1	37	c.196	CCDS7011.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.553428	0.96501	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.79	5.79	0.91817	Multiprotein bridging factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	M	0.92784	3.345	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.70487	0.967;0.969	D	0.89012	0.3429	9	0.87932	D	0	-7.9204	20.0299	0.97533	0.0:1.0:0.0:0.0	.	66;66	O60869-2;O60869	.;EDF1_HUMAN	K	66	.	ENSP00000224073:E66K	E	-	1	0	EDF1	138877656	1.000000	0.71417	0.964000	0.40570	0.829000	0.46940	7.317000	0.79018	2.748000	0.94277	0.655000	0.94253	GAG	EDF1	-	pfam_MBF1_N		0.592	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	HGNC	protein_coding	OTTHUMT00000055143.1	C			139757835	-1	no_errors	ENST00000224073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139757835	C	T	139757835	3	4	147	1	0	0	0	0	1	0	0	0	4924	922	32	1	297	1	EDF1	9	139757835	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	71058	139757835	1455596	594	23848										
TMEM203	94107	genome.wustl.edu	37	chr9	140099705	140099705	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgctgagcccgtcagcggcGaagaaaggcacgaacacgtt	14	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:140099705G>A	ENST00000343666.5	-	1	385	c.162C>T	c.(160-162)ttC>ttT	p.F54F	NDOR1_ENST00000344894.5_5'Flank|NDOR1_ENST00000458322.2_5'Flank|TPRN_ENST00000541945.1_5'Flank|TMEM203_ENST00000537254.1_Silent_p.F54F|NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	54						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGTCAGCGGCGAAGAAAGGCA	0.632																																																	0													49	51	50					9																	140099705		2198	4292	6490	SO:0001819	synonymous_variant	94107			BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.162C>T	9.37:g.140099705G>A			Q6NW08	Silent	SNP	pfam_TM_Fragile-X-F-assoc	p.F54	ENST00000343666.5	37	c.162	CCDS35185.1	9																																																																																			TMEM203	-	pfam_TM_Fragile-X-F-assoc		0.632	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM203	HGNC	protein_coding	OTTHUMT00000055325.2	G	NM_053045		140099705	-1	no_errors	ENST00000343666	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140099705	G	A	140099705	2	1	147	1	0	0	0	0	0	0	0	1	16158	1049	37	1		1	TMEM203	9	140099705	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	341870	140099705	1113726	595	23849										
BEND7	222389	genome.wustl.edu	37	chr10	13534659	13534659	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgaatcctagaacgcggctCtcctccggggaggtgtgctc	13	14	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:13534659C>G	ENST00000396900.2	-	5	788	c.789G>C	c.(787-789)gaG>gaC	p.E263D	BEND7_ENST00000341083.3_Missense_Mutation_p.E211D|BEND7_ENST00000378605.3_Missense_Mutation_p.E224D|BEND7_ENST00000396898.2_Missense_Mutation_p.E276D			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	263						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAACGCGGCTCTCCTCCGGGG	0.522																																																	0													112	116	115					10																	13534659		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.789G>C	10.37:g.13534659C>G	ENSP00000380108:p.Glu263Asp		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.E263D	ENST00000396900.2	37	c.789		10	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241592	0.10077	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.49432	0.78;0.79;0.82;0.83	5.73	1.7	0.24286	.	0.564173	0.21248	N	0.077687	T	0.37785	0.1016	L	0.59436	1.845	0.26779	N	0.969636	B;P	0.39480	0.321;0.675	B;B	0.32393	0.03;0.145	T	0.25916	-1.0118	10	0.52906	T	0.07	-5.1469	9.8886	0.41276	0.0:0.5429:0.3433:0.1138	.	276;211	E5RFC0;Q8N7W2-3	.;.	D	263;211;276;224	ENSP00000380108:E263D;ENSP00000345773:E211D;ENSP00000380107:E276D;ENSP00000367868:E224D	ENSP00000345773:E211D	E	-	3	2	BEND7	13574665	0.989000	0.36119	0.062000	0.19696	0.012000	0.07955	0.143000	0.16115	0.416000	0.25844	-0.219000	0.12488	GAG	BEND7	-	NULL		0.522	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		C	NM_152751		13534659	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	0.714	G	G	13534659	C	G	13534659	3	3	147	1	0	0	0	0	1	0	0	0	1404	912	32	1	805	1	BEND7	10	13534659	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09		13534659	122000088	596	23850										
CDNF	51182	genome.wustl.edu	37	chr10	14879934	14879934	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccaccacagcaactgggctCgcgcaccacatgctgggcca	11	17	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:14879934C>T	ENST00000378372.3	+	0	0				CDNF_ENST00000378441.2_5'Flank|CDNF_ENST00000378442.1_Intron|HSPA14_ENST00000437161.2_5'Flank	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAACTGGGCTCGCGCACCACA	0.682																																																	0													19	23	22					10																	14879934		2187	4289	6476	SO:0001631	upstream_gene_variant	441549			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712		10.37:g.14879934C>T	Exception_encountered		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	pfam_Armet_prot	p.A4	ENST00000378372.3	37	c.12	CCDS7103.1	10																																																																																			CDNF	-	NULL		0.682	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDNF	HGNC	protein_coding	OTTHUMT00000046910.1	C	NM_016299		14879934	-1	no_errors	ENST00000465530	ensembl	human	known	70_37	silent	SNP	0.000	T	T	14879934	C	T	14879934	1	4	147	0	1	0	0	0	0	0	0	0	3173	871	31	1		1	CDNF	10	14879934	5'Flank	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1345275	14879934	120654813	597	23851										
ITGA8	8516	genome.wustl.edu	37	chr10	15617594	15617594	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctgcggagggtgtgacactCtgaaacatgaaatgtcctgt	12	8	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:15617594C>T	ENST00000378076.3	-	24	2726		c.e24-1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTGTGACACTCTGAAACATGA	0.438																																																	0													105	93	97					10																	15617594		2203	4300	6503	SO:0001630	splice_region_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2373-1G>A	10.37:g.15617594C>T			B0YJ31|Q5VX94	Splice_Site	SNP	-	e24-1	ENST00000378076.3	37	c.2373-1	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040496	0.35989	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5323	0.90997	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15657600	1.000000	0.71417	0.963000	0.40424	0.093000	0.18481	6.264000	0.72527	2.741000	0.93983	0.650000	0.86243	.	ITGA8	-	-		0.438	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	C	NM_003638	Intron	15617594	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	15617594	C	T	15617594	5	4	147	1	0	0	0	0	0	0	1	0	7902	927	32	1	847	1	ITGA8	10	15617594	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	737660	15617594	119917153	598	23852										
CUBN	8029	genome.wustl.edu	37	chr10	16967336	16967336	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgattatccgaggtgaacaGagttgatgaagcatgactgc	12	6	0	6			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:16967336G>C	ENST00000377833.4	-	43	6615	c.6550C>G	c.(6550-6552)Ctg>Gtg	p.L2184V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2184	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAACAGAGTTGATGAA	0.398																																																	0													70	70	70					10																	16967336		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6550C>G	10.37:g.16967336G>C	ENSP00000367064:p.Leu2184Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.L2184V	ENST00000377833.4	37	c.6550	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	6.934	0.542014	0.13250	.	.	ENSG00000107611	ENST00000377833	T	0.16073	2.37	5.32	0.646	0.17789	CUB (5);	0.000000	0.37348	N	0.002139	T	0.08935	0.0221	N	0.21583	0.68	0.50467	D	0.999873	P	0.34837	0.472	B	0.37422	0.249	T	0.33085	-0.9882	10	0.23302	T	0.38	.	2.7842	0.05369	0.0946:0.3139:0.2097:0.3819	.	2184	O60494	CUBN_HUMAN	V	2184	ENSP00000367064:L2184V	ENSP00000367064:L2184V	L	-	1	2	CUBN	17007342	0.379000	0.25123	0.859000	0.33776	0.262000	0.26303	0.531000	0.23052	-0.038000	0.13624	0.655000	0.94253	CTG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		16967336	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.242	C	C	16967336	G	C	16967336	3	2	147	1	0	0	0	0	1	0	0	0	4056	933	33	1	4421	1	CUBN	10	16967336	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1349742	16967336	118567411	599	23853										
PRTFDC1	56952	genome.wustl.edu	37	chr10	25147323	25147323	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggaaatgccagcttacctCaacaatgagaacattctgaa	7	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:25147323C>G	ENST00000320152.6	-	5	449	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.E141Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	141					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CAGCTTACCTCAACAATGAGA	0.333																																																	0													121	104	110					10																	25147323		2203	4300	6503	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.421G>C	10.37:g.25147323C>G	ENSP00000318602:p.Glu141Gln		B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.E141Q	ENST00000320152.6	37	c.421	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032306	0.75504	.	.	ENSG00000099256	ENST00000320152;ENST00000376378	D;D	0.99436	-5.9;-5.9	5.67	4.78	0.61160	Phosphoribosyltransferase (1);	.	.	.	.	D	0.99658	0.9873	H	0.98612	4.28	0.80722	D	1	D;P	0.69078	0.997;0.911	P;P	0.59171	0.853;0.787	D	0.97510	1.0066	9	0.87932	D	0	.	13.7562	0.62937	0.0:0.9266:0.0:0.0734	.	141;141	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	Q	141	ENSP00000318602:E141Q;ENSP00000365558:E141Q	ENSP00000318602:E141Q	E	-	1	0	PRTFDC1	25187329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.722000	0.54948	1.410000	0.46936	0.655000	0.94253	GAG	PRTFDC1	-	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans		0.333	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	C	NM_020200		25147323	-1	no_errors	ENST00000320152	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25147323	C	G	25147323	3	3	147	1	0	0	0	0	1	0	0	0	12664	835	29	1	276	1	PRTFDC1	10	25147323	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8179987	25147323	110387424	600	23854										
APBB1IP	54518	genome.wustl.edu	37	chr10	26785257	26785257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taggagttgacactctccctCctcctgaccctaatccaccc	5	18	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:26785257C>T	ENST00000376236.4	+	4	552	c.97C>T	c.(97-99)Cct>Tct	p.P33S	APBB1IP_ENST00000356785.4_Missense_Mutation_p.P33S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	33					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CACTCTCCCTCCTCCTGACCC	0.368																																																	0													101	101	101					10																	26785257		2203	4300	6503	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.97C>T	10.37:g.26785257C>T	ENSP00000365411:p.Pro33Ser		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.P33S	ENST00000376236.4	37	c.97	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807266	0.50421	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.35236	1.32	5.87	4.97	0.65823	.	0.271361	0.43260	D	0.000599	T	0.35998	0.0951	L	0.53249	1.67	0.45914	D	0.99875	P;P;P	0.48503	0.911;0.635;0.707	B;B;B	0.43386	0.418;0.195;0.278	T	0.26018	-1.0115	10	0.66056	D	0.02	.	10.2452	0.43336	0.134:0.7967:0.0:0.0694	.	33;33;33	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	S	33	ENSP00000365411:P33S	ENSP00000349237:P33S	P	+	1	0	APBB1IP	26825263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.292000	0.51772	1.626000	0.50381	0.655000	0.94253	CCT	APBB1IP	-	NULL		0.368	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	C	NM_019043		26785257	1	no_errors	ENST00000376236	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26785257	C	T	26785257	3	4	147	1	0	0	0	0	1	0	0	0	760	855	30	1	103	1	APBB1IP	10	26785257	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1637934	26785257	108749490	601	23855										
SVIL	6840	genome.wustl.edu	37	chr10	29821682	29821682	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtacggaccttgcgctttttCgaggcttccctgttgtgacc	11	12	0	1	rs371198011		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:29821682C>G	ENST00000355867.4	-	8	2366	c.1614G>C	c.(1612-1614)tcG>tcC	p.S538S	SVIL_ENST00000375398.2_Silent_p.S538S|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	538					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCGCTTTTTCGAGGCTTCCC	0.562																																																	0													211	203	206					10																	29821682		2203	4300	6503	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1614G>C	10.37:g.29821682C>G			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.S538	ENST00000355867.4	37	c.1614	CCDS7164.1	10																																																																																			SVIL	-	NULL		0.562	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	C			29821682	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	0.000	G	G	29821682	C	G	29821682	2	3	147	1	0	0	0	0	0	0	0	1	15451	871	31	1		1	SVIL	10	29821682	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3036425	29821682	105713065	602	23856										
PARD3	56288	genome.wustl.edu	37	chr10	34649003	34649003	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taaagttgacactcactttaGatgctgctcctccattaata	5	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:34649003G>C	ENST00000374789.3	-	13	2217	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C	PARD3_ENST00000374773.1_Missense_Mutation_p.S631C|PARD3_ENST00000374794.3_Missense_Mutation_p.S574C|PARD3_ENST00000544292.1_Missense_Mutation_p.S348C|PARD3_ENST00000340077.5_Missense_Mutation_p.S631C|PARD3_ENST00000346874.4_Missense_Mutation_p.S631C|PARD3_ENST00000374776.1_Missense_Mutation_p.S618C|PARD3_ENST00000374788.3_Missense_Mutation_p.S631C|PARD3_ENST00000545260.1_Missense_Mutation_p.S574C|PARD3_ENST00000374790.3_Missense_Mutation_p.S574C|PARD3_ENST00000545693.1_Missense_Mutation_p.S618C|PARD3_ENST00000374768.1_Missense_Mutation_p.S69C|PARD3_ENST00000350537.4_Missense_Mutation_p.S618C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	631	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACTCACTTTAGATGCTGCTCC	0.378																																																	0													123	114	117					10																	34649003		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1892C>G	10.37:g.34649003G>C	ENSP00000363921:p.Ser631Cys		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S631C	ENST00000374789.3	37	c.1892	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990573	0.74589	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.95	5.95	0.96441	PDZ/DHR/GLGF (4);	0.093191	0.85682	D	0.000000	T	0.57829	0.2080	M	0.72894	2.215	0.53688	D	0.999973	P;D;D;P;D;P;P;P;P;P;P;B;P;B;B	0.89917	0.803;1.0;1.0;0.803;1.0;0.803;0.803;0.707;0.764;0.836;0.716;0.167;0.831;0.167;0.214	P;D;D;P;D;P;P;B;P;P;P;B;P;B;B	0.97110	0.504;0.999;1.0;0.504;1.0;0.504;0.504;0.314;0.527;0.637;0.485;0.124;0.459;0.187;0.175	T	0.49969	-0.8882	10	0.38643	T	0.18	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	574;574;618;618;618;631;631;631;574;618;631;631;618;631;348	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	618;574;631;631;631;574;618;574;618;631;631;348;69	ENSP00000443147:S618C;ENSP00000440857:S574C;ENSP00000363921:S631C;ENSP00000363920:S631C;ENSP00000340591:S631C;ENSP00000363926:S574C;ENSP00000311986:S618C;ENSP00000363922:S574C;ENSP00000363908:S618C;ENSP00000341844:S631C;ENSP00000363905:S631C;ENSP00000444429:S348C;ENSP00000363900:S69C	ENSP00000341844:S631C	S	-	2	0	PARD3	34689009	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.980000	0.70516	2.817000	0.96982	0.563000	0.77884	TCT	PARD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34649003	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	0.999	C	C	34649003	G	C	34649003	3	2	147	1	0	0	0	0	1	0	0	0	11467	942	33	1	2265	1	PARD3	10	34649003	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4827321	34649003	100885744	603	23857										
ZNF37A	7587	genome.wustl.edu	37	chr10	38407182	38407182	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaaaccttctcatttaagtCagtccttactgtgcatcaga	6	10	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:38407182C>A	ENST00000361085.5	+	7	1448	c.1103C>A	c.(1102-1104)tCa>tAa	p.S368*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.S368*	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCATTTAAGTCAGTCCTTACT	0.418																																																	0													81	84	83					10																	38407182		2203	4300	6503	SO:0001587	stop_gained	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1103C>A	10.37:g.38407182C>A	ENSP00000354377:p.Ser368*		B3KRQ3|D3DRZ3|Q96B88	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S368*	ENST00000361085.5	37	c.1103	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615788	0.87359	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	.	.	.	1.78	0.863	0.19062	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2109	0.20628	0.0:0.8265:0.0:0.1735	.	.	.	.	X	368	.	ENSP00000329141:S368X	S	+	2	0	ZNF37A	38447188	0.000000	0.05858	0.962000	0.40283	0.744000	0.42396	-0.617000	0.05584	0.323000	0.23307	-0.218000	0.12543	TCA	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	C	NM_003421		38407182	1	no_errors	ENST00000351773	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	38407182	C	A	38407182	4	1	147	1	0	0	0	0	0	1	0	0	17902	838	29	3	1117	3	ZNF37A	10	38407182	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3758179	38407182	97127565	604	23858										
BMS1	9790	genome.wustl.edu	37	chr10	43294068	43294068	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccccatgactgggatttaGaggaggtaagtctgggtagt	14	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:43294068G>C	ENST00000374518.5	+	12	2305	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	748					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGGATTTAGAGGAGGTAAG	0.428																																																	0													88	94	92					10																	43294068		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2242G>C	10.37:g.43294068G>C	ENSP00000363642:p.Glu748Gln		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,smart_AARP2CN	p.E748Q	ENST00000374518.5	37	c.2242	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641507	0.47153	.	.	ENSG00000165733	ENST00000374518	T	0.61859	0.07	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.62088	1.915	0.50467	D	0.999872	P	0.41393	0.748	B	0.37480	0.251	T	0.55636	-0.8110	10	0.44086	T	0.13	.	11.4666	0.50243	0.1377:0.0:0.8623:0.0	.	748	Q14692	BMS1_HUMAN	Q	748	ENSP00000363642:E748Q	ENSP00000363642:E748Q	E	+	1	0	BMS1	42614074	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.215000	0.65241	1.523000	0.49018	0.650000	0.86243	GAG	BMS1	-	NULL		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	G	NM_014753		43294068	1	no_errors	ENST00000374518	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43294068	G	C	43294068	3	2	147	1	0	0	0	0	1	0	0	0	1473	943	33	1	2284	1	BMS1	10	43294068	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4886886	43294068	92240679	605	23859										
RET	5979	genome.wustl.edu	37	chr10	43608311	43608311	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcctgtgcagggatcaccagGaacttctccacctgctctcc	8	16	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:43608311G>A	ENST00000355710.3	+	9	1891	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	RET_ENST00000340058.5_Silent_p.R553R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	553					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGATCACCAGGAACTTCTCCA	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													98	70	80					10																	43608311		2203	4300	6503	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1659G>A	10.37:g.43608311G>A			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R553	ENST00000355710.3	37	c.1659	CCDS7200.1	10																																																																																			RET	-	pirsf_Tyr_kinase_Ret_rcpt		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	G	NM_020975		43608311	1	no_errors	ENST00000355710	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43608311	G	A	43608311	2	1	147	1	0	0	0	0	0	0	0	1	13265	1165	41	1		1	RET	10	43608311	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	314243	43608311	91926436	606	23860										
CSTF2T	23283	genome.wustl.edu	37	chr10	53459272	53459272	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgaacacggaacgcagtgatCgatccattgccgggtctctc	11	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:53459272C>G	ENST00000331173.4	-	1	83	c.38G>C	c.(37-39)cGa>cCa	p.R13P	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	13					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ACGCAGTGATCGATCCATTGC	0.537																																																	0													109	110	110					10																	53459272		2201	4299	6500	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.38G>C	10.37:g.53459272C>G	ENSP00000332444:p.Arg13Pro		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R13P	ENST00000331173.4	37	c.38	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287064	0.59867	.	.	ENSG00000177613	ENST00000331173	T	0.73681	-0.77	5.0	4.1	0.47936	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	N	0.25380	0.74	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.78811	-0.2057	10	0.87932	D	0	-1.0292	11.5969	0.50979	0.0:0.9131:0.0:0.0869	.	13	Q9H0L4	CSTFT_HUMAN	P	13	ENSP00000332444:R13P	ENSP00000332444:R13P	R	-	2	0	CSTF2T	53129278	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.739000	0.62080	1.485000	0.48380	0.585000	0.79938	CGA	CSTF2T	-	NULL		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	C	NM_015235		53459272	-1	no_errors	ENST00000331173	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53459272	C	G	53459272	3	3	147	1	0	0	0	0	1	0	0	0	3990	884	31	1	1816	1	CSTF2T	10	53459272	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9850961	53459272	82075475	607	23861										
SLC16A9	220963	genome.wustl.edu	37	chr10	61412606	61412606	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcttgttgcatgtatcccaaGagggcaaggctgccagcagc	13	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:61412606G>C	ENST00000395348.3	-	6	2090	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S485C	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	485					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TGTATCCCAAGAGGGCAAGGC	0.433																																																	0													81	84	83					10																	61412606		2203	4300	6503	SO:0001583	missense	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1454C>G	10.37:g.61412606G>C	ENSP00000378757:p.Ser485Cys		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S485C	ENST00000395348.3	37	c.1454	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200722	0.01581	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04654	3.58;3.58	5.57	-0.538	0.11868	Major facilitator superfamily domain (1);	0.633900	0.18086	N	0.152134	T	0.01287	0.0042	N	0.00446	-1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46414	-0.9193	10	0.42905	T	0.14	.	7.1702	0.25715	0.3209:0.2907:0.3883:0.0	.	485	Q7RTY1	MOT9_HUMAN	C	485	ENSP00000378757:S485C;ENSP00000378756:S485C	ENSP00000378756:S485C	S	-	2	0	SLC16A9	61082612	0.961000	0.32948	0.001000	0.08648	0.400000	0.30750	0.905000	0.28504	-0.010000	0.14271	-0.157000	0.13467	TCT	SLC16A9	-	pfscan_MFS_dom		0.433	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	G	NM_194298		61412606	-1	no_errors	ENST00000395347	ensembl	human	known	70_37	missense	SNP	0.001	C	C	61412606	G	C	61412606	3	2	147	1	0	0	0	0	1	0	0	0	14445	942	33	1	79	1	SLC16A9	10	61412606	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7953334	61412606	74122141	608	23862										
ANK3	288	genome.wustl.edu	37	chr10	61926591	61926591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cattttcataccttcatcatCagacatatcaagaacttcat	2	11	6	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:61926591C>G	ENST00000280772.2	-	22	2733	c.2542G>C	c.(2542-2544)Gat>Cat	p.D848H	ANK3_ENST00000460468.1_Missense_Mutation_p.D15H|ANK3_ENST00000503366.1_Missense_Mutation_p.D831H|ANK3_ENST00000373827.2_Missense_Mutation_p.D842H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	848					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTCATCATCAGACATATCA	0.328																																																	0													157	147	151					10																	61926591		2202	4299	6501	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2542G>C	10.37:g.61926591C>G	ENSP00000280772:p.Asp848His		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D848H	ENST00000280772.2	37	c.2542	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962065	0.74016	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348;ENST00000460468;ENST00000474360	T;T;T;T	0.71817	-0.6;2.19;-0.34;2.19	5.42	4.51	0.55191	.	0.000000	0.41500	D	0.000861	D	0.83972	0.5370	M	0.77820	2.39	0.58432	D	0.999998	B;P;D;D;D;D	0.89917	0.066;0.69;0.998;1.0;1.0;1.0	B;P;P;D;D;D	0.85130	0.057;0.532;0.905;0.977;0.95;0.997	D	0.86400	0.1741	10	0.87932	D	0	.	15.4591	0.75339	0.14:0.86:0.0:0.0	.	831;509;392;842;848;83	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955;F5GXK0	.;.;.;.;ANK3_HUMAN;.	H	848;842;831;810;83;509;504;392;15;22	ENSP00000280772:D848H;ENSP00000362933:D842H;ENSP00000425236:D831H;ENSP00000426690:D15H	ENSP00000280772:D848H	D	-	1	0	ANK3	61596597	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	7.818000	0.86416	1.263000	0.44181	0.650000	0.86243	GAT	ANK3	-	NULL		0.328	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61926591	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	0.999	G	G	61926591	C	G	61926591	3	3	147	1	0	0	0	0	1	0	0	0	622	826	29	1	11012	1	ANK3	10	61926591	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	513985	61926591	73608156	609	23863										
ARID5B	84159	genome.wustl.edu	37	chr10	63810655	63810655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atttgttttcagcgccaaatCttaaaggcagaccacgcaaa	7	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:63810655C>T	ENST00000279873.7	+	5	1152	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	ARID5B_ENST00000309334.5_Missense_Mutation_p.L5F	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	248					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGCGCCAAATCTTAAAGGCAG	0.398																																																	0													124	116	119					10																	63810655		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.742C>T	10.37:g.63810655C>T	ENSP00000279873:p.Leu248Phe		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L248F	ENST00000279873.7	37	c.742	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875245	0.91664	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.26660	1.72;1.72	6.03	6.03	0.97812	.	0.149937	0.53938	D	0.000059	T	0.50154	0.1599	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.30504	-0.9976	10	0.52906	T	0.07	-12.3437	20.5568	0.99304	0.0:1.0:0.0:0.0	.	248;5;248	Q14865-3;Q14865-2;Q14865	.;.;ARI5B_HUMAN	F	248;5	ENSP00000279873:L248F;ENSP00000308862:L5F	ENSP00000279873:L248F	L	+	1	0	ARID5B	63480661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.334000	0.72944	2.861000	0.98227	0.655000	0.94253	CTT	ARID5B	-	NULL		0.398	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	C	XM_084482		63810655	1	no_errors	ENST00000279873	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63810655	C	T	63810655	3	4	147	1	0	0	0	0	1	0	0	0	922	913	32	1	760	1	ARID5B	10	63810655	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1884064	63810655	71724092	610	23864										
ZNF365	22891	genome.wustl.edu	37	chr10	64416242	64416242	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcttaggactccaggactttGagaggtgggtgtccaaaaca	12	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:64416242G>C	ENST00000395251.1	+	5	812	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.E406Q|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	160										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ccaggactttgagaggtgggt	0.438																																																	0													173	138	150					10																	64416242		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.478G>C	10.37:g.64416242G>C	ENSP00000378672:p.Glu160Gln			Missense_Mutation	SNP	NULL	p.E406Q	ENST00000395251.1	37	c.1216	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936074	0.18206	.	.	ENSG00000138311	ENST00000410046;ENST00000395251	T	0.55052	0.54	3.38	-0.271	0.12922	.	8.365750	0.00166	N	0.000000	T	0.28433	0.0703	N	0.08118	0	0.09310	N	1	B;B	0.33103	0.397;0.04	B;B	0.25291	0.059;0.027	T	0.17048	-1.0382	10	0.51188	T	0.08	-21.9538	2.1581	0.03818	0.4726:0.0:0.2932:0.2342	.	160;406	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	Q	406;160	ENSP00000378672:E160Q	ENSP00000378672:E160Q	E	+	1	0	ZNF365	64086248	0.003000	0.15002	0.005000	0.12908	0.007000	0.05969	-0.127000	0.10547	-0.070000	0.12908	-0.350000	0.07774	GAG	ZNF365	-	NULL		0.438	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	G	NM_014951		64416242	1	no_errors	ENST00000410046	ensembl	human	known	70_37	missense	SNP	0.009	C	C	64416242	G	C	64416242	3	2	147	1	0	0	0	0	1	0	0	0	17899	1291	45	1	1970	1	ZNF365	10	64416242	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	605587	64416242	71118505	611	23865										
SLC25A16	8034	genome.wustl.edu	37	chr10	70243195	70243195	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accataatttttttttagttGaggtgaaaaaactgcttcat	6	5	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70243195G>C	ENST00000609923.1	-	9	1091	c.993C>G	c.(991-993)ctC>ctG	p.L331L	SLC25A16_ENST00000539557.1_Silent_p.L233L|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	331					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTTTTTAGTTGAGGTGAAAAA	0.348																																																	0													74	74	74					10																	70243195		2203	4300	6503	SO:0001819	synonymous_variant	8034			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"Solute carriers"	10986	protein-coding gene	gene with protein product	"Graves disease autoantigen"	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.993C>G	10.37:g.70243195G>C			Q8N2U1	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier	p.L331	ENST00000609923.1	37	c.993	CCDS7280.1	10																																																																																			SLC25A16	-	NULL		0.348	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A16	HGNC	protein_coding	OTTHUMT00000048347.2	G			70243195	-1	no_errors	ENST00000265870	ensembl	human	known	70_37	silent	SNP	0.989	C	C	70243195	G	C	70243195	2	2	147	1	0	0	0	0	0	0	0	1	14508	1277	45	1		1	SLC25A16	10	70243195	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5826953	70243195	65291552	612	23866										
DDX21	9188	genome.wustl.edu	37	chr10	70738685	70738685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttaaagagcagctgggcgagGagattgattccaaagtgaag	14	5	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70738685G>C	ENST00000354185.4	+	13	2088	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	664					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTGGGCGAGGAGATTGATTC	0.433																																																	0													128	133	131					10																	70738685		2203	4300	6503	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1990G>C	10.37:g.70738685G>C	ENSP00000346120:p.Glu664Gln		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E664Q	ENST00000354185.4	37	c.1990	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429283	0.43122	.	.	ENSG00000165732	ENST00000354185	T	0.18016	2.24	5.69	4.56	0.56223	GUCT (1);	0.525532	0.23319	N	0.049480	T	0.16428	0.0395	L	0.41824	1.3	0.32105	N	0.590106	B	0.15473	0.013	B	0.23018	0.043	T	0.06552	-1.0820	10	0.48119	T	0.1	-51.277	12.3082	0.54914	0.103:0.0:0.897:0.0	.	664	Q9NR30	DDX21_HUMAN	Q	664	ENSP00000346120:E664Q	ENSP00000346120:E664Q	E	+	1	0	DDX21	70408691	1.000000	0.71417	0.530000	0.27963	0.701000	0.40568	2.984000	0.49353	1.192000	0.43071	0.655000	0.94253	GAG	DDX21	-	pfam_GUCT		0.433	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	G	NM_004728		70738685	1	no_errors	ENST00000354185	ensembl	human	known	70_37	missense	SNP	0.992	C	C	70738685	G	C	70738685	3	2	147	1	0	0	0	0	1	0	0	0	4354	1175	41	1	2040	1	DDX21	10	70738685	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	495490	70738685	64796062	613	23867										
SRGN	5552	genome.wustl.edu	37	chr10	70863643	70863643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcagaaagacgagaatccagGacttgaatcgtatcttccca	8	10	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70863643G>A	ENST00000242465.3	+	3	284	c.244G>A	c.(244-246)Gac>Aac	p.D82N	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	82					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						GAGAATCCAGGACTTGAATCG	0.423																																																	0													73	70	71					10																	70863643		2203	4300	6503	SO:0001583	missense	5552			BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"Proteoglycans / Extracellular Matrix : Other"	9361	protein-coding gene	gene with protein product	"serglycin proteoglycan"	177040	"proteoglycan 1, secretory granule"	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.244G>A	10.37:g.70863643G>A	ENSP00000242465:p.Asp82Asn		B2R4L7|Q5VW06	Missense_Mutation	SNP	pfam_Serglycin	p.D82N	ENST00000242465.3	37	c.244	CCDS7285.1	10	.	.	.	.	.	.	.	.	.	.	G	2.882	-0.231644	0.05983	.	.	ENSG00000122862	ENST00000242465	T	0.42131	0.98	4.36	0.133	0.14766	.	0.423844	0.22392	N	0.060666	T	0.10937	0.0267	N	0.01410	-0.885	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20338	-1.0278	10	0.15952	T	0.53	-23.5876	2.2217	0.03974	0.4321:0.0:0.3305:0.2374	.	82	P10124	SRGN_HUMAN	N	82	ENSP00000242465:D82N	ENSP00000242465:D82N	D	+	1	0	SRGN	70533649	0.074000	0.21230	0.012000	0.15200	0.038000	0.13279	0.423000	0.21313	0.162000	0.19483	-0.379000	0.06801	GAC	SRGN	-	pfam_Serglycin		0.423	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGN	HGNC	protein_coding	OTTHUMT00000048379.1	G	NM_002727		70863643	1	no_errors	ENST00000242465	ensembl	human	known	70_37	missense	SNP	0.084	A	A	70863643	G	A	70863643	3	1	147	1	0	0	0	0	1	0	0	0	15178	1174	41	1	254	1	SRGN	10	70863643	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	124958	70863643	64671104	614	23868										
SAR1A	56681	genome.wustl.edu	37	chr10	71917551	71917551	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttggattccacgaggcgaGaatgatctgcacagtccacc	10	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:71917551G>C	ENST00000373242.2	-	6	513	c.317C>G	c.(316-318)tCt>tGt	p.S106C	SAR1A_ENST00000373241.4_Missense_Mutation_p.S106C|SAR1A_ENST00000373238.1_Missense_Mutation_p.S106C|SAR1A_ENST00000458634.2_Missense_Mutation_p.S63C|SAR1A_ENST00000373236.1_Missense_Mutation_p.S106C|SAR1A_ENST00000431664.2_Missense_Mutation_p.S106C	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	106					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CACGAGGCGAGAATGATCTGC	0.343																																																	0													88	79	82					10																	71917551		2203	4300	6503	SO:0001583	missense	56681				CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"SAR1a gene homolog (S. cerevisiae) 1", "SAR1a gene homolog 1 (S. cerevisiae)", "SAR1 homolog A (S. cerevisiae)"	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.317C>G	10.37:g.71917551G>C	ENSP00000362339:p.Ser106Cys		B4DQ19	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S106C	ENST00000373242.2	37	c.317	CCDS7298.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.808254|2.808254	0.50421|0.50421	.|.	.|.	ENSG00000079332|ENSG00000079332	ENST00000395026|ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000452767;ENST00000373236	.|D;D;D;D;D;D	.|0.82984	.|-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Small GTP-binding protein domain (1);	.|0.484852	.|0.22680	.|N	.|0.056960	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.69463|0.69463	2.115|2.115	0.37061|0.37061	D|D	0.898078|0.898078	.|B	.|0.28971	.|0.229	.|B	.|0.37387	.|0.248	D|D	0.86338|0.86338	0.1703|0.1703	6|10	0.87932|0.87932	D|D	0|0	.|.	13.2085|13.2085	0.59811|0.59811	0.0:0.16:0.8399:0.0|0.0:0.16:0.8399:0.0	.|.	.|106	.|Q9NR31	.|SAR1A_HUMAN	V|C	13|106;106;106;106;106;63;10;106	.|ENSP00000362338:S106C;ENSP00000362335:S106C;ENSP00000362339:S106C;ENSP00000399698:S106C;ENSP00000437979:S63C;ENSP00000362333:S106C	ENSP00000378471:L13V|ENSP00000362333:S106C	L|S	-|-	1|2	0|0	SAR1A|SAR1A	71587557|71587557	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.321000|3.321000	0.51999|0.51999	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	CTC|TCT	SAR1A	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.343	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1A	HGNC	protein_coding	OTTHUMT00000048500.2	G			71917551	-1	no_errors	ENST00000373238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71917551	G	C	71917551	3	2	147	1	0	0	0	0	1	0	0	0	13869	942	33	1	291	1	SAR1A	10	71917551	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1053908	71917551	63617196	615	23869										
SGPL1	8879	genome.wustl.edu	37	chr10	72631650	72631650	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcttgtctgggaggcttcctCatcgtctttatggagaaagc	12	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:72631650C>G	ENST00000373202.3	+	11	1166	c.966C>G	c.(964-966)ctC>ctG	p.L322L		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	322					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GAGGCTTCCTCATCGTCTTTA	0.448																																					Colon(151;1054 2458 6676 40971)												0													137	128	131					10																	72631650		2203	4300	6503	SO:0001819	synonymous_variant	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.966C>G	10.37:g.72631650C>G			B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L322	ENST00000373202.3	37	c.966	CCDS31216.1	10																																																																																			SGPL1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	C	NM_003901		72631650	1	no_errors	ENST00000373202	ensembl	human	known	70_37	silent	SNP	1.000	G	G	72631650	C	G	72631650	2	3	147	1	0	0	0	0	0	0	0	1	14248	813	29	1		1	SGPL1	10	72631650	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	714099	72631650	62903097	616	23870										
KIAA0913	23053	genome.wustl.edu	37	chr10	75557291	75557291	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcttcggactccctgggctCctcatcctccagtggaagtc	9	15	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:75557291C>G	ENST00000605216.1	+	18	3792	c.3575C>G	c.(3574-3576)tCc>tGc	p.S1192C	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1197C|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1197C|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1159C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1192C	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1192	Ser-rich.						zinc ion binding (GO:0008270)										TCCCTGGGCTCCTCATCCTCC	0.627																																																	0													52	59	56					10																	75557291		1954	4131	6085	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3575C>G	10.37:g.75557291C>G	ENSP00000474748:p.Ser1192Cys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.S1197C	ENST00000605216.1	37	c.3590		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.078080|4.078080	0.76528|0.76528	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000398706	.|T	.|0.53206	.|0.63	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.67078|0.67078	0.2855|0.2855	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;D	.|0.79784	.|0.993;0.993;0.993;0.993	T|T	0.66011|0.66011	-0.6029|-0.6029	5|10	.|0.51188	.|T	.|0.08	-7.4185|-7.4185	19.534|19.534	0.95242|0.95242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1192;1204;1192;1197	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	A|C	467|1197	.|ENSP00000381693:S1197C	.|ENSP00000381693:S1197C	P|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75227297|75227297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	7.383000|7.383000	0.79741|0.79741	2.631000|2.631000	0.89168|0.89168	0.609000|0.609000	0.83330|0.83330	CCT|TCC	ZSWIM8	-	NULL		0.627	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	C	NM_001242487		75557291	1	no_errors	ENST00000398706	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75557291	C	G	75557291	3	3	147	1	0	0	0	0	1	0	0	0	8220	855	30	1	3660	1	KIAA0913	10	75557291	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2925641	75557291	59977456	617	23871										
AP3M1	26985	genome.wustl.edu	37	chr10	75888905	75888905	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgatatgagtcggaaatttCcatctggaggaataaatgac	10	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:75888905C>G	ENST00000355264.4	-	6	1075	c.764G>C	c.(763-765)gGa>gCa	p.G255A	AP3M1_ENST00000372745.1_Missense_Mutation_p.G255A	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	255	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TCGGAAATTTCCATCTGGAGG	0.448																																																	0													102	94	97					10																	75888905		2203	4300	6503	SO:0001583	missense	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.764G>C	10.37:g.75888905C>G	ENSP00000347408:p.Gly255Ala		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.G255A	ENST00000355264.4	37	c.764	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.144831	0.94603	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.32272	1.46;1.46	5.33	5.33	0.75918	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82226	-0.0562	10	0.87932	D	0	.	19.0414	0.93000	0.0:1.0:0.0:0.0	.	201;255	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	A	255	ENSP00000347408:G255A;ENSP00000361831:G255A	ENSP00000347408:G255A	G	-	2	0	AP3M1	75558911	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.492000	0.84095	0.467000	0.42956	GGA	AP3M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C		0.448	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	C			75888905	-1	no_errors	ENST00000355264	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75888905	C	G	75888905	3	3	147	1	0	0	0	0	1	0	0	0	747	855	30	1	508	1	AP3M1	10	75888905	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	331614	75888905	59645842	618	23872										
DLG5	9231	genome.wustl.edu	37	chr10	79569395	79569395	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acaaacaccccatgcaggttCccaccacacaagtgcacccc	5	19	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:79569395C>G	ENST00000372391.2	-	24	4562	c.4557G>C	c.(4555-4557)ggG>ggC	p.G1519G	DLG5_ENST00000372388.2_Silent_p.G1179G|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1519	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CATGCAGGTTCCCACCACACA	0.587																																																	0													189	186	187					10																	79569395		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4557G>C	10.37:g.79569395C>G			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G1519	ENST00000372391.2	37	c.4557	CCDS7353.2	10																																																																																			DLG5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.587	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79569395	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	1.000	G	G	79569395	C	G	79569395	2	3	147	1	0	0	0	0	0	0	0	1	4568	842	30	1		1	DLG5	10	79569395	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3680490	79569395	55965352	619	23873										
NRG3	10718	genome.wustl.edu	37	chr10	84738789	84738789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggacacccccgtcaccccGaagtaggctaggtggaattg	12	12	1	0	rs560019942		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:84738789G>A	ENST00000404547.1	+	8	1496	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	NRG3_ENST00000372142.2_Missense_Mutation_p.R278Q|NRG3_ENST00000537893.1_Missense_Mutation_p.R149Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R499Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R303Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R329Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R149Q			P56975	NRG3_HUMAN	neuregulin 3	499					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCGTCACCCCGAAGTAGGCTA	0.527													G|||	1	0.000199681	0	0	5008	,	,		17950	0		0	False		,,,				2504	0.001																0													98	86	90					10																	84738789		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1496G>A	10.37:g.84738789G>A	ENSP00000384796:p.Arg499Gln		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.R499Q	ENST00000404547.1	37	c.1496	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841292	0.91197	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.62498	0.51;0.97;0.96;0.02;0.02;0.02;0.02	5.79	5.79	0.91817	.	0.275525	0.25494	N	0.030290	T	0.78007	0.4216	L	0.61218	1.895	0.48341	D	0.999637	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.99;0.996;0.996;0.99	T	0.78811	-0.2057	10	0.87932	D	0	-40.3534	17.6117	0.88055	0.0:0.0:1.0:0.0	.	498;499;278;499	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	Q	499;499;498;278;303;329;149;149	ENSP00000361214:R499Q;ENSP00000384796:R499Q;ENSP00000361215:R278Q;ENSP00000385804:R303Q;ENSP00000451376:R329Q;ENSP00000441201:R149Q;ENSP00000440377:R149Q	ENSP00000361214:R499Q	R	+	2	0	NRG3	84728769	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	6.664000	0.74437	2.759000	0.94783	0.558000	0.71614	CGA	NRG3	-	NULL		0.527	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	G	XM_166086		84738789	1	no_errors	ENST00000404547	ensembl	human	known	70_37	missense	SNP	0.988	A	A	84738789	G	A	84738789	3	1	147	1	0	0	0	0	1	0	0	0	10673	1058	37	1	1694	1	NRG3	10	84738789	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5169394	84738789	50795958	620	23874										
BMPR1A	657	genome.wustl.edu	37	chr10	88677071	88677071	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaactgtgctaatgcgccatGaaaacatacttggtgggtac	10	8	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:88677071G>A	ENST00000372037.3	+	9	1393	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AATGCGCCATGAAAACATACT	0.433			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)		yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	0													46	41	42					10																	88677071		2203	4300	6503	SO:0001583	missense	657	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.856G>A	10.37:g.88677071G>A	ENSP00000361107:p.Glu286Lys		A8K6U9|Q8NEN8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E286K	ENST00000372037.3	37	c.856	CCDS7378.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.486687	0.96323	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.93366	-3.21	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045241	0.85682	D	0.000000	D	0.91205	0.7229	N	0.20401	0.57	0.80722	D	1	B	0.30021	0.265	B	0.39379	0.298	D	0.89324	0.3642	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	286	P36894	BMR1A_HUMAN	K	286	ENSP00000361107:E286K	ENSP00000224764:E286K	E	+	1	0	BMPR1A	88667051	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA	BMPR1A	-	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		0.433	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1A	HGNC	protein_coding	OTTHUMT00000049170.3	G	NM_004329		88677071	1	no_errors	ENST00000224764	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88677071	G	A	88677071	3	1	147	1	0	0	0	0	1	0	0	0	1470	1291	45	1	882	1	BMPR1A	10	88677071	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3938282	88677071	46857676	621	23875										
PAPSS2	9060	genome.wustl.edu	37	chr10	89419750	89419750	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagccagcatgtcggggatCaagaagcaaaagacggtagg	14	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:89419750C>G	ENST00000361175.4	+	1	381	c.12C>G	c.(10-12)atC>atG	p.I4M	PAPSS2_ENST00000427144.2_5'Flank|RP11-57C13.3_ENST00000354527.2_RNA|PAPSS2_ENST00000456849.1_Missense_Mutation_p.I4M|RP11-57C13.6_ENST00000438082.1_lincRNA	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCGGGGATCAAGAAGCAAA	0.721																																																	0													16	21	19					10																	89419750		2194	4286	6480	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.12C>G	10.37:g.89419750C>G	ENSP00000354436:p.Ile4Met		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.I4M	ENST00000361175.4	37	c.12	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	C	16.11	3.028894	0.54790	.	.	ENSG00000198682	ENST00000361175;ENST00000456849	T;T	0.27256	1.68;1.68	4.43	2.54	0.30619	.	.	.	.	.	T	0.15435	0.0372	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08269	-1.0730	9	0.25751	T	0.34	16.5473	5.8805	0.18852	0.0:0.6989:0.1951:0.106	.	4;4	O95340;O95340-2	PAPS2_HUMAN;.	M	4	ENSP00000354436:I4M;ENSP00000406157:I4M	ENSP00000354436:I4M	I	+	3	3	PAPSS2	89409730	1.000000	0.71417	0.915000	0.36163	0.908000	0.53690	1.140000	0.31516	0.471000	0.27319	0.462000	0.41574	ATC	PAPSS2	-	NULL		0.721	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	C			89419750	1	no_errors	ENST00000456849	ensembl	human	known	70_37	missense	SNP	0.965	G	G	89419750	C	G	89419750	3	3	147	1	0	0	0	0	1	0	0	0	11459	816	29	1	14	1	PAPSS2	10	89419750	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	742679	89419750	46114997	622	23876										
PAPSS2	9060	genome.wustl.edu	37	chr10	89473852	89473852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagcagggctgccattctttGaaatatttgtagatgcacct	9	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:89473852G>C	ENST00000361175.4	+	4	802	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	PAPSS2_ENST00000427144.2_Missense_Mutation_p.E149Q|PAPSS2_ENST00000456849.1_Missense_Mutation_p.E145Q	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	145					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GCCATTCTTTGAAATATTTGT	0.393																																																	0													89	98	95					10																	89473852		2203	4300	6503	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.433G>C	10.37:g.89473852G>C	ENSP00000354436:p.Glu145Gln		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.E145Q	ENST00000361175.4	37	c.433	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.269755	0.95429	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.80214	-1.35;-1.35;-1.35	5.9	5.9	0.94986	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94883	0.8346	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96485	0.9359	10	0.87932	D	0	-31.961	20.2822	0.98520	0.0:0.0:1.0:0.0	.	145;145	O95340;O95340-2	PAPS2_HUMAN;.	Q	145;145;149;144	ENSP00000354436:E145Q;ENSP00000406157:E145Q;ENSP00000397123:E149Q	ENSP00000354436:E145Q	E	+	1	0	PAPSS2	89463832	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.445000	0.97587	2.806000	0.96561	0.655000	0.94253	GAA	PAPSS2	-	pfam_APS_kinase,tigrfam_APS_kinase		0.393	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	G			89473852	1	no_errors	ENST00000456849	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89473852	G	C	89473852	3	2	147	1	0	0	0	0	1	0	0	0	11459	1291	45	1	447	1	PAPSS2	10	89473852	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	54102	89473852	46060895	623	23877										
LIPA	3988	genome.wustl.edu	37	chr10	90983552	90983552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccagccacttcaaaaacgcActctggggaagaaattcttt	7	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:90983552A>G	ENST00000336233.5	-	7	1033	c.711T>C	c.(709-711)agT>agC	p.S237S	LIPA_ENST00000371837.1_Silent_p.S181S|LIPA_ENST00000456827.1_Silent_p.S237S			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	237					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TCAAAAACGCACTCTGGGGAA	0.418																																																	0													86	89	88					10																	90983552		2203	4300	6503	SO:0001819	synonymous_variant	3988			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"Wolman disease"	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.711T>C	10.37:g.90983552A>G			B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Silent	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.S239	ENST00000336233.5	37	c.717	CCDS7401.1	10																																																																																			LIPA	-	pfam_AB_hydrolase_1		0.418	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	A	NM_000235		90983552	-1	no_errors	ENST00000425287	ensembl	human	known	70_37	silent	SNP	0.011	G	G	90983552	A	G	90983552	2	3	147	1	0	0	0	0	0	0	0	1	8840	156	6	5		5	LIPA	10	90983552	Silent	SNP	A	TCGA-IR-A3LA-01A-11D-A22X-09	1509700	90983552	44551195	624	23878										
IFIT1B	439996	genome.wustl.edu	37	chr10	91144451	91144451	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgatgctttgctgtgctatGagagggctctgaggctggct	16	7	1	3	rs141192042		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:91144451G>C	ENST00000371809.3	+	2	1461	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	461										endometrium(2)|large_intestine(3)|lung(8)	13						GCTGTGCTATGAGAGGGCTCT	0.413																																																	0													155	162	160					10																	91144451		2203	4300	6503	SO:0001583	missense	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1381G>C	10.37:g.91144451G>C	ENSP00000360874:p.Glu461Gln		A7E245	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E461Q	ENST00000371809.3	37	c.1381	CCDS31242.1	10	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155532	0.57259	.	.	ENSG00000204010	ENST00000371809	T	0.64260	-0.09	4.13	3.23	0.37069	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.207804	0.32533	N	0.005980	T	0.71804	0.3383	M	0.71581	2.175	0.30953	N	0.724529	D	0.71674	0.998	D	0.67382	0.951	T	0.70051	-0.4978	10	0.35671	T	0.21	.	7.7711	0.29008	0.19:0.0:0.81:0.0	.	461	Q5T764	IFT1B_HUMAN	Q	461	ENSP00000360874:E461Q	ENSP00000360874:E461Q	E	+	1	0	IFIT1B	91134431	1.000000	0.71417	0.079000	0.20413	0.352000	0.29268	1.606000	0.36826	0.958000	0.37956	0.558000	0.71614	GAG	IFIT1B	-	smart_TPR_repeat		0.413	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	G	NM_001010987		91144451	1	no_errors	ENST00000371809	ensembl	human	known	70_37	missense	SNP	0.994	C	C	91144451	G	C	91144451	3	2	147	1	0	0	0	0	1	0	0	0	7542	1291	45	1	1387	1	IFIT1B	10	91144451	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	160899	91144451	44390296	625	23879										
HTR7	3363	genome.wustl.edu	37	chr10	92508964	92508964	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgtttttcctttcatgcttGaggagtctcgaaaggtttgc	10	7	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:92508964G>A	ENST00000336152.3	-	2	953	c.927C>T	c.(925-927)ctC>ctT	p.L309L	HTR7_ENST00000371721.3_Silent_p.L309L|HTR7_ENST00000371719.2_Silent_p.L309L|HTR7_ENST00000277874.6_Silent_p.L309L	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	309					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTCATGCTTGAGGAGTCTCG	0.542																																																	0													84	69	74					10																	92508964		2203	4300	6503	SO:0001819	synonymous_variant	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.927C>T	10.37:g.92508964G>A			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.L309	ENST00000336152.3	37	c.927	CCDS7408.1	10																																																																																			HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt		0.542	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	G	NM_000872		92508964	-1	no_errors	ENST00000336152	ensembl	human	known	70_37	silent	SNP	0.996	A	A	92508964	G	A	92508964	2	1	147	1	0	0	0	0	0	0	0	1	7472	1277	45	1		1	HTR7	10	92508964	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1364513	92508964	43025783	626	23880										
KIF11	3832	genome.wustl.edu	37	chr10	94389984	94389984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacttgaccagtgtaaatctGacctgcaaaataaaacacaa	5	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:94389984G>C	ENST00000260731.3	+	12	1447	c.1357G>C	c.(1357-1359)Gac>Cac	p.D453H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	453					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGTAAATCTGACCTGCAAAA	0.313																																					Colon(47;212 1003 2764 4062 8431)												0													56	56	56					10																	94389984		2203	4300	6503	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1357G>C	10.37:g.94389984G>C	ENSP00000260731:p.Asp453His		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D453H	ENST00000260731.3	37	c.1357	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	g	14.38	2.518928	0.44866	.	.	ENSG00000138160	ENST00000260731	T	0.74002	-0.8	5.82	5.82	0.92795	.	0.108390	0.64402	D	0.000009	T	0.78704	0.4325	L	0.56769	1.78	0.51233	D	0.999918	D	0.54397	0.966	P	0.53988	0.739	T	0.78006	-0.2373	10	0.44086	T	0.13	.	12.9752	0.58534	0.0743:0.0:0.9257:0.0	.	453	P52732	KIF11_HUMAN	H	453	ENSP00000260731:D453H	ENSP00000260731:D453H	D	+	1	0	KIF11	94379964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.630000	0.54273	2.751000	0.94390	0.650000	0.86243	GAC	KIF11	-	NULL		0.313	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523		94389984	1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94389984	G	C	94389984	3	2	147	1	0	0	0	0	1	0	0	0	8292	1290	45	1	1403	1	KIF11	10	94389984	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1881020	94389984	41144763	627	23881										
MYOF	26509	genome.wustl.edu	37	chr10	95121295	95121295	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacaagtcaactcgctgggtGatgctgctttatcgccgttc	11	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:95121295G>A	ENST00000359263.4	-	28	2887	c.2888C>T	c.(2887-2889)tCa>tTa	p.S963L	MYOF_ENST00000358334.5_Missense_Mutation_p.S950L|MYOF_ENST00000371501.4_Missense_Mutation_p.S963L|MYOF_ENST00000371502.4_Missense_Mutation_p.S963L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	963					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCGCTGGGTGATGCTGCTTT	0.423																																																	0													177	170	172					10																	95121295		1983	4160	6143	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2888C>T	10.37:g.95121295G>A	ENSP00000352208:p.Ser963Leu		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.S963L	ENST00000359263.4	37	c.2888	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245422	0.80024	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.81	5.81	0.92471	Ferlin/Peroxisome membrane (1);	0.292679	0.34435	N	0.003965	D	0.88366	0.6417	M	0.68593	2.085	0.46654	D	0.999149	P;P	0.44241	0.645;0.829	P;P	0.52267	0.694;0.511	D	0.87674	0.2543	10	0.52906	T	0.07	-13.2223	20.0912	0.97820	0.0:0.0:1.0:0.0	.	950;963	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	950;963;963;963	ENSP00000351094:S950L;ENSP00000352208:S963L;ENSP00000360556:S963L;ENSP00000360557:S963L	ENSP00000351094:S950L	S	-	2	0	MYOF	95111285	0.879000	0.30193	0.999000	0.59377	0.896000	0.52359	4.707000	0.61852	2.746000	0.94184	0.591000	0.81541	TCA	MYOF	-	smart_Peroxin/Ferlin		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	G	NM_013451		95121295	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	0.930	A	A	95121295	G	A	95121295	3	1	147	1	0	0	0	0	1	0	0	0	10112	1294	45	1	3405	1	MYOF	10	95121295	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	731311	95121295	40413452	628	23882										
TLL2	7093	genome.wustl.edu	37	chr10	98205860	98205860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacattaccctttccagcttCcttggtgccagtgtccatgg	8	14	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98205860C>T	ENST00000357947.3	-	3	577	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	118					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCAGCTTCCTTGGTGCCA	0.483																																																	0													243	211	222					10																	98205860		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.352G>A	10.37:g.98205860C>T	ENSP00000350630:p.Glu118Lys		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.E118K	ENST00000357947.3	37	c.352	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	6.844	0.524938	0.13066	.	.	ENSG00000095587	ENST00000357947	T	0.14144	2.53	4.98	2.63	0.31362	.	1.370010	0.05421	N	0.544263	T	0.05090	0.0136	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.11182	T	0.66	.	4.2643	0.10756	0.0:0.6155:0.2322:0.1523	.	118	Q9Y6L7	TLL2_HUMAN	K	118	ENSP00000350630:E118K	ENSP00000350630:E118K	E	-	1	0	TLL2	98195850	0.011000	0.17503	0.003000	0.11579	0.604000	0.37047	0.978000	0.29488	1.192000	0.43071	0.555000	0.69702	GAA	TLL2	-	pirsf_BMP_1/tolloid-like		0.483	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98205860	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	missense	SNP	0.004	T	T	98205860	C	T	98205860	3	4	147	1	0	0	0	0	1	0	0	0	15976	864	30	1	2771	1	TLL2	10	98205860	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3084565	98205860	37328887	629	23883										
C10orf12	26148	genome.wustl.edu	37	chr10	98742023	98742023	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acaaagattaagccgaacctGagcagctcccctaggtcaga	9	12	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98742023G>C	ENST00000286067.2	+	1	983	c.876G>C	c.(874-876)ctG>ctC	p.L292L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	292										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCCGAACCTGAGCAGCTCCC	0.567																																																	0													66	69	68					10																	98742023		2203	4300	6503	SO:0001819	synonymous_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.876G>C	10.37:g.98742023G>C			Q9H945|Q9Y457	Silent	SNP	NULL	p.L292	ENST00000286067.2	37	c.876	CCDS7452.1	10																																																																																			C10orf12	-	NULL		0.567	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742023	1	no_errors	ENST00000286067	ensembl	human	known	70_37	silent	SNP	0.000	C	C	98742023	G	C	98742023	2	2	147	1	0	0	0	0	0	0	0	1	1593	1277	45	1		1	C10orf12	10	98742023	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	536163	98742023	36792724	630	23884										
C10orf12	26148	genome.wustl.edu	37	chr10	98742703	98742703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggattcttcctctgctgacaGatgcctaagaaatcagagtt	9	9	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98742703G>C	ENST00000286067.2	+	1	1663	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	519										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTGCTGACAGATGCCTAAGA	0.403																																																	0													73	80	78					10																	98742703		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1556G>C	10.37:g.98742703G>C	ENSP00000286067:p.Arg519Thr		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.R519T	ENST00000286067.2	37	c.1556	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432798	0.04669	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07800	3.16	4.27	2.42	0.29668	.	0.548875	0.16626	N	0.206275	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	0.999999	B	0.33612	0.419	B	0.33690	0.168	T	0.38779	-0.9645	10	0.12766	T	0.61	-6.6441	9.4926	0.38969	0.1684:0.0:0.8316:0.0	.	519	Q8N655	CJ012_HUMAN	T	519;353	ENSP00000286067:R519T	ENSP00000286067:R519T	R	+	2	0	C10orf12	98732693	1.000000	0.71417	0.067000	0.19924	0.021000	0.10359	1.762000	0.38451	0.764000	0.33197	-0.258000	0.10820	AGA	C10orf12	-	NULL		0.403	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742703	1	no_errors	ENST00000286067	ensembl	human	known	70_37	missense	SNP	0.142	C	C	98742703	G	C	98742703	3	2	147	1	0	0	0	0	1	0	0	0	1593	942	33	1	1558	1	C10orf12	10	98742703	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	680	98742703	36792044	631	23885										
SLIT1	6585	genome.wustl.edu	37	chr10	98794254	98794254	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcagctggctcatgttggtGaaggaggaattgcttaagga	15	5	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98794254G>A	ENST00000266058.4	-	23	2657	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.F804F	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	804					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATGTTGGTGAAGGAGGAAT	0.567																																																	0													151	131	137					10																	98794254		2203	4300	6503	SO:0001819	synonymous_variant	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2412C>T	10.37:g.98794254G>A			Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.F804	ENST00000266058.4	37	c.2412	CCDS7453.1	10																																																																																			SLIT1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	G	NM_003061		98794254	-1	no_errors	ENST00000266058	ensembl	human	known	70_37	silent	SNP	1.000	A	A	98794254	G	A	98794254	2	1	147	1	0	0	0	0	0	0	0	1	14769	1281	45	1		1	SLIT1	10	98794254	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	51551	98794254	36740493	632	23886										
RRP12	23223	genome.wustl.edu	37	chr10	99132923	99132923	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagaggatcggcagaaagttCttggcaaagcgactcacttc	11	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:99132923C>G	ENST00000370992.4	-	18	2172	c.2061G>C	c.(2059-2061)aaG>aaC	p.K687N	RRP12_ENST00000414986.1_Missense_Mutation_p.K626N|RRP12_ENST00000536831.1_Missense_Mutation_p.K405N|RRP12_ENST00000315563.6_Missense_Mutation_p.K587N|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	687						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAGAAAGTTCTTGGCAAAGC	0.577																																																	0													59	61	60					10																	99132923		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2061G>C	10.37:g.99132923C>G	ENSP00000360031:p.Lys687Asn		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.K687N	ENST00000370992.4	37	c.2061	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327751	0.41197	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.48	3.62	0.41486	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.84846	2.72	0.80722	D	1	D;P;D;D	0.76494	0.983;0.921;0.999;0.994	P;P;D;P	0.68353	0.851;0.735;0.957;0.873	T	0.76950	-0.2769	10	0.48119	T	0.1	-25.9918	9.7564	0.40506	0.0:0.7583:0.0:0.2417	.	626;587;405;687	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	N	687;587;626;405	ENSP00000360031:K687N;ENSP00000324315:K587N;ENSP00000414863:K626N;ENSP00000446184:K405N	ENSP00000324315:K587N	K	-	3	2	RRP12	99122913	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	1.395000	0.34520	0.672000	0.31204	0.313000	0.20887	AAG	RRP12	-	superfamily_ARM-type_fold		0.577	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99132923	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99132923	C	G	99132923	3	3	147	1	0	0	0	0	1	0	0	0	13716	912	32	1	1900	1	RRP12	10	99132923	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	338669	99132923	36401824	633	23887										
FAM178A	55719	genome.wustl.edu	37	chr10	102675791	102675791	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agatttcttcaaaccagcttCaaaacaaggtatgtacactg	6	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:102675791C>G	ENST00000238961.4	+	2	718	c.176C>G	c.(175-177)tCa>tGa	p.S59*	FAM178A_ENST00000370269.3_Nonsense_Mutation_p.S59*|FAM178A_ENST00000370271.3_Nonsense_Mutation_p.S59*	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	59						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAACCAGCTTCAAAACAAGGT	0.328																																																	0													143	149	147					10																	102675791		2203	4300	6503	SO:0001587	stop_gained	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.176C>G	10.37:g.102675791C>G	ENSP00000238961:p.Ser59*		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Nonsense_Mutation	SNP	NULL	p.S59*	ENST00000238961.4	37	c.176	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559585	0.86335	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	.	.	.	5.65	4.73	0.59995	.	0.391934	0.18981	N	0.125872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.5638	8.3255	0.32153	0.0:0.7588:0.1583:0.0829	.	.	.	.	X	59	.	ENSP00000238961:S59X	S	+	2	0	FAM178A	102665781	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	1.554000	0.36266	1.481000	0.48307	0.650000	0.86243	TCA	FAM178A	-	NULL		0.328	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	C			102675791	1	no_errors	ENST00000370269	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	102675791	C	G	102675791	4	3	147	1	0	0	0	0	0	1	0	0	5518	838	29	1	182	1	FAM178A	10	102675791	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3542868	102675791	32858956	634	23888										
DPCD	25911	genome.wustl.edu	37	chr10	103368658	103368658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctctggatgacgccttgctGagctttgcccacgccaactg	10	15	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:103368658G>A	ENST00000370151.4	+	5	520	c.471G>A	c.(469-471)ctG>ctA	p.L157L	FBXW4_ENST00000470093.1_5'Flank|DPCD_ENST00000370147.1_Silent_p.*171*|DPCD_ENST00000370148.2_Silent_p.*171*	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	157					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						ACGCCTTGCTGAGCTTTGCCC	0.537																																																	0													207	186	193					10																	103368658		2203	4300	6503	SO:0001819	synonymous_variant	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.471G>A	10.37:g.103368658G>A			A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Silent	SNP	NULL	p.L157	ENST00000370151.4	37	c.471	CCDS7514.1	10																																																																																			DPCD	-	NULL		0.537	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	G			103368658	1	no_errors	ENST00000370151	ensembl	human	known	70_37	silent	SNP	1.000	A	A	103368658	G	A	103368658	2	1	147	1	0	0	0	0	0	0	0	1	4721	1277	45	1		1	DPCD	10	103368658	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	692867	103368658	32166089	635	23889										
PPRC1	23082	genome.wustl.edu	37	chr10	103901643	103901643	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgttcccacaccaaggcaGagcactgtccccaagctgcc	9	17	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:103901643G>C	ENST00000278070.2	+	5	3417	c.3378G>C	c.(3376-3378)caG>caC	p.Q1126H	PPRC1_ENST00000370012.1_Missense_Mutation_p.Q93H|PPRC1_ENST00000413464.2_Missense_Mutation_p.Q1126H|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1126	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCAAGGCAGAGCACTGTCC	0.602																																																	0													57	54	55					10																	103901643		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3378G>C	10.37:g.103901643G>C	ENSP00000278070:p.Gln1126His		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q1126H	ENST00000278070.2	37	c.3378	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789332	0.16258	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.32515	1.82;1.82;1.45	6.04	4.16	0.48862	.	0.199249	0.36101	N	0.002791	T	0.22126	0.0533	L	0.29908	0.895	0.23975	N	0.996293	B;B;B	0.17667	0.013;0.023;0.013	B;B;B	0.16289	0.007;0.015;0.007	T	0.17961	-1.0352	10	0.56958	D	0.05	.	9.333	0.38034	0.0761:0.3386:0.5853:0.0	.	1126;1006;1126	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	H	1126;1126;93	ENSP00000278070:Q1126H;ENSP00000399743:Q1126H;ENSP00000359029:Q93H	ENSP00000278070:Q1126H	Q	+	3	2	PPRC1	103891633	0.896000	0.30565	0.984000	0.44739	0.138000	0.21146	1.713000	0.37951	0.853000	0.35312	0.563000	0.77884	CAG	PPRC1	-	NULL		0.602	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	G	NM_015062		103901643	1	no_errors	ENST00000278070	ensembl	human	known	70_37	missense	SNP	0.880	C	C	103901643	G	C	103901643	3	2	147	1	0	0	0	0	1	0	0	0	12437	933	33	1	3396	1	PPRC1	10	103901643	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	532985	103901643	31633104	636	23890										
SMNDC1	10285	genome.wustl.edu	37	chr10	112058485	112058485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgagtagaagcaaaactgtCtgaacttgcaagcgtctcag	10	8	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:112058485C>G	ENST00000369603.5	-	3	387	c.184G>C	c.(184-186)Gac>Cac	p.D62H	SMNDC1_ENST00000471297.1_5'UTR|SMNDC1_ENST00000369592.1_Missense_Mutation_p.D62H	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	62					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.D62H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GCAAAACTGTCTGAACTTGCA	0.358																																																	1	Substitution - Missense(1)	lung(1)											104	91	96					10																	112058485		2203	4300	6503	SO:0001583	missense	10285			AF083385	CCDS7565.1	10q23	2013-01-23			ENSG00000119953	ENSG00000119953		"Tudor domain containing"	16900	protein-coding gene	gene with protein product	"splicing factor 30, survival of motor neuron-related", "tudor domain containing 16C"	603519				9731529, 9817934	Standard	NM_005871		Approved	SPF30, SMNR, TDRD16C	uc001kzc.4	O75940	OTTHUMG00000019036	ENST00000369603.5:c.184G>C	10.37:g.112058485C>G	ENSP00000358616:p.Asp62His		B2RA27|D3DRB1|Q5T3K6	Missense_Mutation	SNP	pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	p.D62H	ENST00000369603.5	37	c.184	CCDS7565.1	10	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558241	0.45590	.	.	ENSG00000119953	ENST00000369603;ENST00000369592	D;D	0.88124	-2.34;-2.34	5.9	4.99	0.66335	.	0.296597	0.41938	D	0.000781	T	0.77772	0.4180	N	0.14661	0.345	0.38998	D	0.959283	B	0.32425	0.371	B	0.36608	0.229	T	0.77910	-0.2411	10	0.48119	T	0.1	-9.926	10.2567	0.43401	0.1331:0.7981:0.0:0.0688	.	62	O75940	SPF30_HUMAN	H	62	ENSP00000358616:D62H;ENSP00000358605:D62H	ENSP00000358605:D62H	D	-	1	0	SMNDC1	112048475	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.881000	0.63114	2.794000	0.96219	0.655000	0.94253	GAC	SMNDC1	-	NULL		0.358	SMNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMNDC1	HGNC	protein_coding	OTTHUMT00000050325.2	C	NM_005871		112058485	-1	no_errors	ENST00000369592	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112058485	C	G	112058485	3	3	147	1	0	0	0	0	1	0	0	0	14829	913	32	1	548	1	SMNDC1	10	112058485	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8156842	112058485	23476262	637	23891										
DUSP5	1847	genome.wustl.edu	37	chr10	112262487	112262487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgtttttgtagggggatatGagactttctactcggaatat	11	4	1	1	rs370573010		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:112262487G>C	ENST00000369583.3	+	2	672	c.388G>C	c.(388-390)Gag>Cag	p.E130Q		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	130	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGGGGGATATGAGACTTTCTA	0.408																																																	0													97	97	97					10																	112262487		2203	4300	6503	SO:0001583	missense	1847			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.388G>C	10.37:g.112262487G>C	ENSP00000358596:p.Glu130Gln		Q12997|Q5T603	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E130Q	ENST00000369583.3	37	c.388	CCDS7566.1	10	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348848	0.82132	.	.	ENSG00000138166	ENST00000369583	T	0.27104	1.69	6.02	6.02	0.97574	Rhodanese-like (5);	0.137842	0.64402	D	0.000004	T	0.32645	0.0836	L	0.41356	1.27	0.58432	D	0.999998	P	0.47034	0.889	P	0.46758	0.526	T	0.01133	-1.1441	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	130	Q16690	DUS5_HUMAN	Q	130	ENSP00000358596:E130Q	ENSP00000358596:E130Q	E	+	1	0	DUSP5	112252477	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.336000	0.79245	2.850000	0.98022	0.650000	0.86243	GAG	DUSP5	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom		0.408	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	HGNC	protein_coding	OTTHUMT00000050333.1	G	NM_004419		112262487	1	no_errors	ENST00000369583	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112262487	G	C	112262487	3	2	147	1	0	0	0	0	1	0	0	0	4838	1291	45	1	394	1	DUSP5	10	112262487	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	204002	112262487	23272260	638	23892										
ZDHHC6	64429	genome.wustl.edu	37	chr10	114194092	114194092	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacagccttctcttactggcCactcaagtccatctccttca	5	16	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:114194092C>T	ENST00000369405.3	-	7	1289	c.866G>A	c.(865-867)tGg>tAg	p.W289*	ZDHHC6_ENST00000482410.1_5'Flank|ZDHHC6_ENST00000369404.3_Nonsense_Mutation_p.W285*	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	289					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TCTTACTGGCCACTCAAGTCC	0.438																																																	0													110	98	102					10																	114194092		2203	4300	6503	SO:0001587	stop_gained	64429			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.866G>A	10.37:g.114194092C>T	ENSP00000358413:p.Trp289*		D3DRB6|Q53G45|Q96IV7|Q9H605	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.W289*	ENST00000369405.3	37	c.866	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.303210	0.99130	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9975	20.1787	0.98192	0.0:1.0:0.0:0.0	.	.	.	.	X	289;285	.	ENSP00000358412:W285X	W	-	2	0	ZDHHC6	114184082	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.687000	0.84139	2.846000	0.97976	0.650000	0.86243	TGG	ZDHHC6	-	NULL		0.438	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	HGNC	protein_coding	OTTHUMT00000050393.1	C	NM_022494		114194092	-1	no_errors	ENST00000369405	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	114194092	C	T	114194092	4	4	147	1	0	0	0	0	0	1	0	0	17649	595	21	4	395	4	ZDHHC6	10	114194092	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1931605	114194092	21340655	639	23893										
C10orf118	55088	genome.wustl.edu	37	chr10	115894805	115894805	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcttaatcgttcatcttctaGacatttcacctatcaaatga	3	10	6	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:115894805G>C	ENST00000369287.3	-	10	1788	c.1522C>G	c.(1522-1524)Cta>Gta	p.L508V	C10orf118_ENST00000543782.1_Missense_Mutation_p.L106V	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		508										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCATCTTCTAGACATTTCACC	0.274																																																	0													84	83	83					10																	115894805		2203	4298	6501	SO:0001583	missense	55088																														ENST00000369287.3:c.1522C>G	10.37:g.115894805G>C	ENSP00000358293:p.Leu508Val		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.L508V	ENST00000369287.3	37	c.1522	CCDS7587.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.884949|3.884949	0.72410|0.72410	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	T;T|.	0.59772|.	0.24;0.24|.	6.14|6.14	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61400|0.61400	0.2344|0.2344	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.58651|0.58651	-0.7599|-0.7599	10|5	0.51188|.	T|.	0.08|.	.|.	15.5553|15.5553	0.76187|0.76187	0.0656:0.0:0.9344:0.0|0.0656:0.0:0.9344:0.0	.|.	106;508|.	F6VCB7;Q7Z3E2|.	.;CJ118_HUMAN|.	V|C	508;106;614|136	ENSP00000358293:L508V;ENSP00000441576:L106V|.	ENSP00000358293:L508V|.	L|S	-|-	1|2	2|0	C10orf118|C10orf118	115884795|115884795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.303000|9.303000	0.96183|0.96183	1.628000|1.628000	0.50416|0.50416	0.650000|0.650000	0.86243|0.86243	CTA|TCT	C10orf118	-	NULL		0.274	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	G			115894805	-1	no_errors	ENST00000369287	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115894805	G	C	115894805	3	2	147	1	0	0	0	0	1	0	0	0	1591	933	33	1	1202	1	C10orf118	10	115894805	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1700713	115894805	19639942	640	23894										
TDRD1	56165	genome.wustl.edu	37	chr10	115973275	115973275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcagtgttagcaaagttctcCtagatgcaggctttgctgtg	11	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:115973275C>A	ENST00000369280.1	+	15	2462	c.2002C>A	c.(2002-2004)Cta>Ata	p.L668I	TDRD1_ENST00000422662.1_Missense_Mutation_p.L272I|TDRD1_ENST00000369282.1_Missense_Mutation_p.L668I|TDRD1_ENST00000369281.2_Missense_Mutation_p.L611I|TDRD1_ENST00000251864.2_Missense_Mutation_p.L668I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	668					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAAGTTCTCCTAGATGCAGG	0.438																																																	0													155	140	145					10																	115973275		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2002C>A	10.37:g.115973275C>A	ENSP00000358286:p.Leu668Ile		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.L668I	ENST00000369280.1	37	c.2002		10	.	.	.	.	.	.	.	.	.	.	A	0.867	-0.733180	0.03135	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.15256	3.22;3.22;2.44;2.62;3.22	5.8	-2.65	0.06095	.	0.958745	0.08714	N	0.904598	T	0.03915	0.0110	N	0.01493	-0.835	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.001	T	0.33929	-0.9849	10	0.02654	T	1	-0.0768	3.9078	0.09190	0.2138:0.476:0.1243:0.1859	.	272;668;611;668;611	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	I	668;668;611;272;668	ENSP00000358288:L668I;ENSP00000251864:L668I;ENSP00000358287:L611I;ENSP00000402794:L272I;ENSP00000358286:L668I	ENSP00000251864:L668I	L	+	1	2	TDRD1	115963265	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.302000	0.08221	-1.202000	0.02655	-0.362000	0.07510	CTA	TDRD1	-	NULL		0.438	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	C			115973275	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.000	A	A	115973275	C	A	115973275	3	1	147	1	0	0	0	0	1	0	0	0	15760	680	24	4	2056	4	TDRD1	10	115973275	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	78470	115973275	19561472	641	23895										
EIF3A	8661	genome.wustl.edu	37	chr10	120797792	120797792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcgatccacatctctctctCtgtccctttctctctcaggg	5	17	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:120797792C>G	ENST00000369144.3	-	20	3813	c.3686G>C	c.(3685-3687)aGa>aCa	p.R1229T	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1195T	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		Atctctctctctgtccctttc	0.478																																																	0													225	178	194					10																	120797792		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3686G>C	10.37:g.120797792C>G	ENSP00000358140:p.Arg1229Thr		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R1229T	ENST00000369144.3	37	c.3686	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	9.105	1.005068	0.19199	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26223	1.77;1.75	5.03	5.03	0.67393	.	0.000000	0.41712	U	0.000824	T	0.32285	0.0824	L	0.42245	1.32	0.36694	D	0.879761	D;B	0.61697	0.99;0.421	P;B	0.57152	0.814;0.057	T	0.10683	-1.0619	10	0.15499	T	0.54	-14.8518	11.4179	0.49962	0.0:0.9161:0.0:0.0839	.	1195;1229	F5H335;Q14152	.;EIF3A_HUMAN	T	1229;1195	ENSP00000358140:R1229T;ENSP00000438178:R1195T	ENSP00000358140:R1229T	R	-	2	0	EIF3A	120787782	1.000000	0.71417	0.982000	0.44146	0.492000	0.33523	1.919000	0.40015	2.512000	0.84698	0.462000	0.41574	AGA	EIF3A	-	NULL		0.478	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	C	NM_003750		120797792	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	missense	SNP	0.996	G	G	120797792	C	G	120797792	3	3	147	1	0	0	0	0	1	0	0	0	5022	913	32	1	474	1	EIF3A	10	120797792	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4824517	120797792	14736955	642	23896										
ATE1	11101	genome.wustl.edu	37	chr10	123549786	123549786	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtctcagggcacagcaaatCagaaggtctatactgaccct	9	11	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:123549786C>T	ENST00000224652.6	-	11	1361	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	ATE1_ENST00000369040.3_Missense_Mutation_p.D330N|ATE1_ENST00000369043.3_Missense_Mutation_p.D426N|ATE1_ENST00000543447.1_Missense_Mutation_p.D311N|ATE1_ENST00000540606.1_Missense_Mutation_p.D419N|ATE1_ENST00000535655.1_Missense_Mutation_p.D127N	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	426					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGCAAATCAGAAGGTCTA	0.468																																																	0													89	82	85					10																	123549786		2203	4300	6503	SO:0001583	missense	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1276G>A	10.37:g.123549786C>T	ENSP00000224652:p.Asp426Asn		O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.D426N	ENST00000224652.6	37	c.1276	CCDS31300.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.069096	0.93950	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.67	5.67	0.87782	Acyl-CoA N-acyltransferase (1);Arginine-tRNA-protein transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	0.995;0.993;1.0;0.995	P;D;D;D	0.79784	0.897;0.969;0.993;0.93	D	0.83757	0.0212	9	0.52906	T	0.07	-12.0408	19.7824	0.96422	0.0:1.0:0.0:0.0	.	419;330;426;426	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	N	426;127;426;330;419;311	.	ENSP00000224652:D426N	D	-	1	0	ATE1	123539776	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	7.456000	0.80751	2.677000	0.91161	0.561000	0.74099	GAT	ATE1	-	pfam_Arg-tRNA-P_Trfase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk		0.468	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		C	NM_001001976		123549786	-1	no_errors	ENST00000224652	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123549786	C	T	123549786	3	4	147	1	0	0	0	0	1	0	0	0	1079	826	29	1	288	1	ATE1	10	123549786	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2751994	123549786	11984961	643	23897										
DMBT1	1755	genome.wustl.edu	37	chr10	124390767	124390767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggttctcccacaactgtaatCatcgtgaagatgctggtgtc	10	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:124390767C>T	ENST00000338354.3	+	46	6035	c.5929C>T	c.(5929-5931)Cat>Tat	p.H1977Y	DMBT1_ENST00000344338.3_Missense_Mutation_p.H1967Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H1977Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.H1349Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1967Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1349Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.H697Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1977	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAACTGTAATCATCGTGAAGA	0.542																																					Ovarian(182;93 2026 18125 22222 38972)												0													149	144	146					10																	124390767		2062	4204	6266	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5929C>T	10.37:g.124390767C>T	ENSP00000342210:p.His1977Tyr		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.H2106Y	ENST00000338354.3	37	c.6316		10	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385319	0.61956	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.56	5.56	0.83823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.72534	0.3472	H	0.94658	3.565	0.51482	D	0.99992	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;0.994;0.99;0.97	D;D;D;D;P;D;P	0.91635	0.999;0.995;0.999;0.999;0.769;0.98;0.89	T	0.80301	-0.1440	9	0.66056	D	0.02	.	19.6051	0.95577	0.0:1.0:0.0:0.0	.	697;1957;1226;2106;1349;1967;1977	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	1977;2106;1977;1977;1977;1977;1349;1967;1349;1349;1977;1967;1349;123;697	ENSP00000342210:H1977Y;ENSP00000343175:H1967Y;ENSP00000327747:H1349Y;ENSP00000357905:H1977Y;ENSP00000357951:H1967Y;ENSP00000357952:H1349Y;ENSP00000352593:H697Y	ENSP00000331522:H1349Y	H	+	1	0	DMBT1	124380757	1.000000	0.71417	0.095000	0.20976	0.007000	0.05969	5.826000	0.69293	2.619000	0.88677	0.650000	0.86243	CAT	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124390767	1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124390767	C	T	124390767	3	4	147	1	0	0	0	0	1	0	0	0	4587	826	29	1	6111	1	DMBT1	10	124390767	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	840981	124390767	11143980	644	23898										
DHX32	55760	genome.wustl.edu	37	chr10	127529516	127529516	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaaatgtcttccaacaagtCaaggcagcctcttcagctcc	6	13	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:127529516C>G	ENST00000284690.3	-	8	2083	c.1593G>C	c.(1591-1593)ttG>ttC	p.L531F	DHX32_ENST00000368721.1_Missense_Mutation_p.L155F|DHX32_ENST00000284688.6_Missense_Mutation_p.L450F|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron|AL360176.1_ENST00000401153.1_RNA	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	531						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCAACAAGTCAAGGCAGCCT	0.403																																																	0													126	105	112					10																	127529516		2203	4300	6503	SO:0001583	missense	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1593G>C	10.37:g.127529516C>G	ENSP00000284690:p.Leu531Phe		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.L531F	ENST00000284690.3	37	c.1593	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598880	0.13939	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.29142	1.58;1.58;1.58	4.66	4.66	0.58398	Helicase-associated domain (2);	1.482540	0.03918	N	0.283005	T	0.31104	0.0786	L	0.41632	1.29	0.09310	N	1	B	0.30193	0.272	B	0.34536	0.185	T	0.29212	-1.0019	10	0.87932	D	0	-0.9263	5.8617	0.18752	0.1919:0.7124:0.0:0.0958	.	531	Q7L7V1	DHX32_HUMAN	F	155;531;450	ENSP00000357710:L155F;ENSP00000284690:L531F;ENSP00000284688:L450F	ENSP00000284688:L450F	L	-	3	2	DHX32	127519506	0.000000	0.05858	0.033000	0.17914	0.807000	0.45602	0.252000	0.18278	2.413000	0.81919	0.655000	0.94253	TTG	DHX32	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom		0.403	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	C	NM_018180		127529516	-1	no_errors	ENST00000284690	ensembl	human	known	70_37	missense	SNP	0.007	G	G	127529516	C	G	127529516	3	3	147	1	0	0	0	0	1	0	0	0	4515	825	29	1	654	1	DHX32	10	127529516	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3138749	127529516	8005231	645	23899										
TCERG1L	256536	genome.wustl.edu	37	chr10	132961448	132961448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctggctgtgctgtcctctCctccccccagcatcggtgga	10	17	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:132961448C>A	ENST00000368642.4	-	6	1056	c.971G>T	c.(970-972)gGa>gTa	p.G324V		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	324										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCTGTCCTCTCCTCCCCCCAG	0.562																																																	0													35	33	34					10																	132961448		2197	4292	6489	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.971G>T	10.37:g.132961448C>A	ENSP00000357631:p.Gly324Val		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.G324V	ENST00000368642.4	37	c.971	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518113	0.13005	.	.	ENSG00000176769	ENST00000368642	T	0.25085	1.82	3.95	3.95	0.45737	.	0.218384	0.30940	N	0.008567	T	0.24005	0.0581	N	0.19112	0.55	0.28772	N	0.900322	D	0.54601	0.967	P	0.52823	0.71	T	0.03597	-1.1021	10	0.30854	T	0.27	-3.3201	11.372	0.49704	0.0:1.0:0.0:0.0	.	324	Q5VWI1	TCRGL_HUMAN	V	324	ENSP00000357631:G324V	ENSP00000357631:G324V	G	-	2	0	TCERG1L	132851438	0.363000	0.24989	0.235000	0.24058	0.077000	0.17291	1.071000	0.30666	2.045000	0.60652	0.655000	0.94253	GGA	TCERG1L	-	NULL		0.562	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	C	NM_174937		132961448	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	0.304	A	A	132961448	C	A	132961448	3	1	147	1	0	0	0	0	1	0	0	0	15716	855	30	3	817	3	TCERG1L	10	132961448	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5431932	132961448	2573299	646	23900										
JAKMIP3	282973	genome.wustl.edu	37	chr10	133976803	133976803	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctgtcagaggaggagcgcGagaagctcaaggtggccgtg	18	8	2	2	rs147886594		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:133976803G>C	ENST00000298622.4	+	19	2443	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	769						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAGGAGCGCGAGAAGCTCAA	0.657																																																	0													63	46	51					10																	133976803		2198	4294	6492	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2305G>C	10.37:g.133976803G>C	ENSP00000298622:p.Glu769Gln		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E769Q	ENST00000298622.4	37	c.2305	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562416	0.65538	.	.	ENSG00000188385	ENST00000298622	T	0.27557	1.66	3.77	3.77	0.43336	.	.	.	.	.	T	0.32941	0.0846	L	0.52573	1.65	0.30730	N	0.747325	P;B	0.47841	0.901;0.036	B;B	0.42495	0.389;0.041	T	0.37798	-0.9690	9	0.48119	T	0.1	.	16.1886	0.81971	0.0:0.0:1.0:0.0	.	206;769	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	Q	769	ENSP00000298622:E769Q	ENSP00000298622:E769Q	E	+	1	0	JAKMIP3	133826793	1.000000	0.71417	0.924000	0.36721	0.608000	0.37181	4.831000	0.62752	2.102000	0.63906	0.460000	0.39030	GAG	JAKMIP3	-	NULL		0.657	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133976803	1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	0.992	C	C	133976803	G	C	133976803	3	2	147	1	0	0	0	0	1	0	0	0	7962	1059	37	1	2379	1	JAKMIP3	10	133976803	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1015355	133976803	1557944	647	23901										
KNDC1	85442	genome.wustl.edu	37	chr10	135011222	135011222	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagcctccaaaacgccttctCagtggttgaactgaagccca	8	14	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:135011222C>G	ENST00000304613.3	+	12	1877	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.S619*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.S554*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	619					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACGCCTTCTCAGTGGTTGAA	0.667																																																	0													164	131	142					10																	135011222		2203	4300	6503	SO:0001587	stop_gained	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1856C>G	10.37:g.135011222C>G	ENSP00000304437:p.Ser619*		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S619*	ENST00000304613.3	37	c.1856	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.318294	0.98207	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.17	2.23	0.28157	.	0.601218	0.14271	N	0.330147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-3.8695	7.1679	0.25702	0.0:0.8616:0.0:0.1384	.	.	.	.	X	619;619;554	.	ENSP00000304437:S619X	S	+	2	0	KNDC1	134861212	0.002000	0.14202	0.011000	0.14972	0.186000	0.23388	0.186000	0.16978	0.634000	0.30469	0.313000	0.20887	TCA	KNDC1	-	NULL		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	C	NM_152643		135011222	1	no_errors	ENST00000368572	ensembl	human	known	70_37	nonsense	SNP	0.016	G	G	135011222	C	G	135011222	4	3	147	1	0	0	0	0	0	1	0	0	8446	838	29	1	1902	1	KNDC1	10	135011222	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1034419	135011222	523525	648	23902										
IRF7	3665	genome.wustl.edu	37	chr11	614216	614216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggaagcccttcttgtccctCtccaggagccttggttggga	13	12	2	0	rs375250292		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:614216C>G	ENST00000397574.2	-	6	1006	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Missense_Mutation_p.E226Q|IRF7_ENST00000525445.1_Missense_Mutation_p.E107Q|IRF7_ENST00000397570.1_Missense_Mutation_p.E213Q|IRF7_ENST00000348655.6_Missense_Mutation_p.E213Q|IRF7_ENST00000397566.1_Missense_Mutation_p.E226Q	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	213					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTTGTCCCTCTCCAGGAGCC	0.687																																																	0									GLN/GLU,GLN/GLU,GLN/GLU	0,4404		0,0,2202	43	44	44		637,637,676	1.2	0.9	11		44	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	IRF7	NM_001572.3,NM_004029.2,NM_004031.2	29,29,29	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	benign,benign,benign	213/504,213/475,226/517	614216	1,12999	2202	4298	6500	SO:0001583	missense	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.637G>C	11.37:g.614216C>G	ENSP00000380704:p.Glu213Gln		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E226Q	ENST00000397574.2	37	c.676	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	c	11.82	1.751204	0.31046	0.0	1.16E-4	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.95885	-2.87;-3.83;-3.83;-3.81;-3.84;-3.81	3.15	1.21	0.21127	.	34.659500	0.00166	N	0.000000	D	0.88243	0.6384	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21606	0.035;0.007;0.005;0.058	B;B;B;B	0.16289	0.007;0.015;0.004;0.015	T	0.75187	-0.3406	10	0.12430	T	0.62	-5.496	7.066	0.25151	0.0:0.7675:0.0:0.2325	.	107;213;213;226	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	Q	107;213;213;226;213;226	ENSP00000434009:E107Q;ENSP00000331803:E213Q;ENSP00000380700:E213Q;ENSP00000380697:E226Q;ENSP00000380704:E213Q;ENSP00000329411:E226Q	ENSP00000329411:E226Q	E	-	1	0	IRF7	604216	0.987000	0.35691	0.914000	0.36105	0.415000	0.31203	0.473000	0.22132	0.338000	0.23692	0.556000	0.70494	GAG	IRF7	-	NULL		0.687	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	C	NM_001572		614216	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	missense	SNP	0.970	G	G	614216	C	G	614216	3	3	147	1	0	0	0	0	1	0	0	0	7855	922	32	1	898	1	IRF7	11	614216	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09		614216	134392300	649	23903										
MUC5B	727897	genome.wustl.edu	37	chr11	1268333	1268333	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccaccaccaacccctcctCaactccagggacaactccca	3	22	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1268333C>G	ENST00000529681.1	+	31	10281	c.10223C>G	c.(10222-10224)tCa>tGa	p.S3408*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.S3411*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3408	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		aacccctcctcaactccaggg	0.637																																																	0													155	187	176					11																	1268333		2094	4141	6235	SO:0001587	stop_gained	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10223C>G	11.37:g.1268333C>G	ENSP00000436812:p.Ser3408*		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S3411*	ENST00000529681.1	37	c.10232	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	50	16.738244	0.99870	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000538459	.	.	.	3.87	-7.09	0.01553	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.8412	0.13491	0.1076:0.3238:0.4233:0.1452	.	.	.	.	X	3408;3411;3380;287	.	ENSP00000343037:S3380X	S	+	2	0	MUC5B	1224909	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.041000	0.12084	-1.438000	0.01965	0.305000	0.20034	TCA	MUC5B	-	NULL		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1268333	1	no_errors	ENST00000447027	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	1268333	C	G	1268333	4	3	147	1	0	0	0	0	0	1	0	0	10002	838	29	1	10354	1	MUC5B	11	1268333	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	654117	1268333	133738183	650	23904										
MUC5B	727897	genome.wustl.edu	37	chr11	1275346	1275346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcagcatgtggggcggctCccactattccacctttgacg	11	14	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1275346C>T	ENST00000529681.1	+	34	15300	c.15242C>T	c.(15241-15243)tCc>tTc	p.S5081F	MUC5B_ENST00000447027.1_Missense_Mutation_p.S5084F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5081	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGCGGCTCCCACTATTCC	0.622																																																	0													51	60	57					11																	1275346		2119	4241	6360	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15242C>T	11.37:g.1275346C>T	ENSP00000436812:p.Ser5081Phe		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S5084F	ENST00000529681.1	37	c.15251	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	2.972	-0.212321	0.06140	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60672	0.17;0.17	4.35	2.35	0.29111	.	.	.	.	.	T	0.66356	0.2781	L	0.46157	1.445	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.60949	0.881;0.881	T	0.59263	-0.7487	9	0.87932	D	0	.	13.1543	0.59508	0.0:0.7055:0.2945:0.0	.	5416;5084	A7Y9J9;E9PBJ0	.;.	F	5081;5084;5025;4793	ENSP00000436812:S5081F;ENSP00000415793:S5084F	ENSP00000343037:S5025F	S	+	2	0	MUC5B	1231922	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.453000	0.21811	0.351000	0.24027	0.400000	0.26472	TCC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1275346	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.048	T	T	1275346	C	T	1275346	3	4	147	1	0	0	0	0	1	0	0	0	10002	855	30	1	15385	1	MUC5B	11	1275346	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7013	1275346	133731170	651	23905										
MUC5B	727897	genome.wustl.edu	37	chr11	1276305	1276305	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaccagagggacgactgtctCcagcgggacggaaccactgc	13	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1276305C>G	ENST00000529681.1	+	36	15757	c.15699C>G	c.(15697-15699)ctC>ctG	p.L5233L	MUC5B_ENST00000447027.1_Silent_p.L5236L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5233	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGACTGTCTCCAGCGGGACG	0.672																																																	0													20	27	25					11																	1276305		2099	4184	6283	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15699C>G	11.37:g.1276305C>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L5236	ENST00000529681.1	37	c.15708	CCDS44515.2	11																																																																																			MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1276305	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.727	G	G	1276305	C	G	1276305	2	3	147	1	0	0	0	0	0	0	0	1	10002	842	30	1		1	MUC5B	11	1276305	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	959	1276305	133730211	652	23906										
KRTAP5-2	440021	genome.wustl.edu	37	chr11	1619458	1619458	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacagccggagccacagcctCtggagcagccacagcagccc	11	18	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1619458C>G	ENST00000412090.1	-	1	66	c.23G>C	c.(22-24)aGa>aCa	p.R8T	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	8						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCTCTGGAGCAGCC	0.682																																																	0													64	74	71					11																	1619458		2195	4297	6492	SO:0001583	missense	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.23G>C	11.37:g.1619458C>G	ENSP00000400041:p.Arg8Thr		A9JTZ1	Missense_Mutation	SNP	NULL	p.R8T	ENST00000412090.1	37	c.23	CCDS31331.1	11	.	.	.	.	.	.	.	.	.	.	c	8.757	0.922668	0.18056	.	.	ENSG00000205867	ENST00000412090	T	0.00686	5.85	3.67	3.67	0.42095	.	.	.	.	.	T	0.00468	0.0015	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47114	-0.9142	9	0.22706	T	0.39	.	8.9341	0.35688	0.2227:0.7773:0.0:0.0	.	8	Q701N4	KRA52_HUMAN	T	8	ENSP00000400041:R8T	ENSP00000400041:R8T	R	-	2	0	KRTAP5-2	1576034	0.428000	0.25522	0.344000	0.25628	0.637000	0.38172	1.864000	0.39469	1.812000	0.52913	0.433000	0.28618	AGA	KRTAP5-2	-	NULL		0.682	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-2	HGNC	protein_coding	OTTHUMT00000384775.1	C	NM_001004325		1619458	-1	no_errors	ENST00000412090	ensembl	human	known	70_37	missense	SNP	0.035	G	G	1619458	C	G	1619458	3	3	147	1	0	0	0	0	1	0	0	0	8581	913	32	1	514	1	KRTAP5-2	11	1619458	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	343153	1619458	133387058	653	23907										
DCHS1	8642	genome.wustl.edu	37	chr11	6644960	6644960	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagctctcatccagctcaaaGagccctgatgggtcgcctga	11	13	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:6644960G>C	ENST00000299441.3	-	21	8358	c.7947C>G	c.(7945-7947)ctC>ctG	p.L2649L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2649	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCTCAAAGAGCCCTGATG	0.607																																																	0													63	57	59					11																	6644960		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7947C>G	11.37:g.6644960G>C			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L2649	ENST00000299441.3	37	c.7947	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6644960	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6644960	G	C	6644960	2	2	147	1	0	0	0	0	0	0	0	1	4292	929	33	1		1	DCHS1	11	6644960	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5025502	6644960	128361556	654	23908										
IPO7	10527	genome.wustl.edu	37	chr11	9431474	9431474	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgtttttttttggcttccaGggtacagcttactacatgca	8	9	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:9431474G>C	ENST00000379719.3	+	4	462		c.e4-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTGGCTTCCAGGGTACAGCTT	0.363																																																	0													143	125	131					11																	9431474		2201	4296	6497	SO:0001630	splice_region_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.321-1G>C	11.37:g.9431474G>C			A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Splice_Site	SNP	-	e4-1	ENST00000379719.3	37	c.321-1	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046167	0.75846	.	.	ENSG00000205339	ENST00000379719;ENST00000527431	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3378	0.94326	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO7	9388050	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.832000	0.99423	2.547000	0.85894	0.650000	0.86243	.	IPO7	-	-		0.363	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	G	NM_006391	Intron	9431474	1	no_errors	ENST00000379719	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	9431474	G	C	9431474	5	2	147	1	0	0	0	0	0	0	1	0	7817	1014	35	4	334	4	IPO7	11	9431474	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2786514	9431474	125575042	655	23909										
IPO7	10527	genome.wustl.edu	37	chr11	9466668	9466668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaaatgattgagaagcatgGaggatacaaattcagtgctc	10	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:9466668G>T	ENST00000379719.3	+	25	3186	c.3044G>T	c.(3043-3045)gGa>gTa	p.G1015V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1015					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCATGGAGGATACAAA	0.378																																																	0													72	73	73					11																	9466668		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3044G>T	11.37:g.9466668G>T	ENSP00000369042:p.Gly1015Val		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G1015V	ENST00000379719.3	37	c.3044	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497889	0.44455	.	.	ENSG00000205339	ENST00000379719	T	0.33438	1.41	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.77313	2.365	0.80722	D	1	P	0.35411	0.5	B	0.32980	0.156	T	0.44345	-0.9334	10	0.72032	D	0.01	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	1015	O95373	IPO7_HUMAN	V	1015	ENSP00000369042:G1015V	ENSP00000369042:G1015V	G	+	2	0	IPO7	9423244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.649000	0.89929	0.563000	0.77884	GGA	IPO7	-	NULL		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	G	NM_006391		9466668	1	no_errors	ENST00000379719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9466668	G	T	9466668	3	4	147	1	0	0	0	0	1	0	0	0	7817	1174	41	3	3142	3	IPO7	11	9466668	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	35194	9466668	125539848	656	23910										
KCNC1	3746	genome.wustl.edu	37	chr11	17758017	17758017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagatgaccaagcgcctggcGctcagtgactccccggatgg	14	13	1	3	rs200830147		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:17758017G>A	ENST00000379472.3	+	1	498	c.468G>A	c.(466-468)gcG>gcA	p.A156A	KCNC1_ENST00000265969.6_Silent_p.A156A	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	156					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	AGCGCCTGGCGCTCAGTGACT	0.731																																																	0													7	9	8					11																	17758017		2126	4144	6270	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.468G>A	11.37:g.17758017G>A			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.A156	ENST00000379472.3	37	c.468	CCDS7827.1	11																																																																																			KCNC1	-	NULL		0.731	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	G	NM_004976		17758017	1	no_errors	ENST00000265969	ensembl	human	known	70_37	silent	SNP	0.992	A	A	17758017	G	A	17758017	2	1	147	1	0	0	0	0	0	0	0	1	8034	1074	38	2		2	KCNC1	11	17758017	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8291349	17758017	117248499	657	23911										
SAA1	6288	genome.wustl.edu	37	chr11	18291272	18291272	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttgattacagcgatgccaGagagaatatccagagattct	9	9	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:18291272G>C	ENST00000405158.2	+	4	423	c.239G>C	c.(238-240)aGa>aCa	p.R80T	SAA1_ENST00000356524.4_Missense_Mutation_p.R80T|SAA1_ENST00000532858.1_Missense_Mutation_p.R80T	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	80					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCGATGCCAGAGAGAATATC	0.537																																																	0													107	95	99					11																	18291272		2199	4293	6492	SO:0001583	missense	6288			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.239G>C	11.37:g.18291272G>C	ENSP00000384906:p.Arg80Thr		P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.R80T	ENST00000405158.2	37	c.239	CCDS7835.1	11	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355182	0.61293	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.15834	2.39;2.39;2.39	3.55	2.63	0.31362	.	0.073640	0.53938	D	0.000053	T	0.48241	0.1489	H	0.94222	3.51	0.29122	N	0.880199	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	T	0.51132	-0.8744	10	0.87932	D	0	.	8.5514	0.33453	0.1142:0.0:0.8857:0.0	.	80;80	D3DQX7;P02735	.;SAA_HUMAN	T	80	ENSP00000348918:R80T;ENSP00000436866:R80T;ENSP00000384906:R80T	ENSP00000348918:R80T	R	+	2	0	SAA1	18247848	1.000000	0.71417	0.521000	0.27850	0.017000	0.09413	5.590000	0.67530	1.059000	0.40554	0.561000	0.74099	AGA	SAA1	-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A		0.537	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA1	HGNC	protein_coding	OTTHUMT00000395864.1	G	NM_199161		18291272	1	no_errors	ENST00000356524	ensembl	human	known	70_37	missense	SNP	0.998	C	C	18291272	G	C	18291272	3	2	147	1	0	0	0	0	1	0	0	0	13828	942	33	1	249	1	SAA1	11	18291272	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	533255	18291272	116715244	658	23912										
SLC6A5	9152	genome.wustl.edu	37	chr11	20657923	20657923	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctctccgttctgggccatCatctttttcctgatgctcct	6	15	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:20657923C>T	ENST00000525748.1	+	11	1968	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	565					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCTGGGCCATCATCTTTTTCC	0.527																																																	0													176	141	153					11																	20657923		2203	4300	6503	SO:0001819	synonymous_variant	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1695C>T	11.37:g.20657923C>T			O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.I565	ENST00000525748.1	37	c.1695	CCDS7854.1	11																																																																																			SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.527	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	C	NM_004211		20657923	1	no_errors	ENST00000525748	ensembl	human	known	70_37	silent	SNP	0.989	T	T	20657923	C	T	20657923	2	4	147	1	0	0	0	0	0	0	0	1	14717	816	29	1		1	SLC6A5	11	20657923	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2366651	20657923	114348593	659	23913										
KIF18A	81930	genome.wustl.edu	37	chr11	28112241	28112241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctgtttttgtttccattatCcaataaatgtaaaatttctt	3	7	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:28112241C>G	ENST00000263181.6	-	5	912	c.622G>C	c.(622-624)Gat>Cat	p.D208H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	208	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTCCATTATCCAATAAATGT	0.333																																																	0													148	139	142					11																	28112241		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.622G>C	11.37:g.28112241C>G	ENSP00000263181:p.Asp208His		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D208H	ENST00000263181.6	37	c.622	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605219	0.87157	.	.	ENSG00000121621	ENST00000263181	T	0.75154	-0.91	5.41	5.41	0.78517	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	L	0.53249	1.67	0.80722	D	1	P	0.42248	0.774	P	0.48873	0.593	T	0.78383	-0.2225	10	0.45353	T	0.12	.	19.2036	0.93720	0.0:1.0:0.0:0.0	.	208	Q8NI77	KI18A_HUMAN	H	208	ENSP00000263181:D208H	ENSP00000263181:D208H	D	-	1	0	KIF18A	28068817	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.487000	0.81328	2.552000	0.86080	0.655000	0.94253	GAT	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.333	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28112241	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28112241	C	G	28112241	3	3	147	1	0	0	0	0	1	0	0	0	8300	855	30	1	2126	1	KIF18A	11	28112241	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7454318	28112241	106894275	660	23914										
KIF18A	81930	genome.wustl.edu	37	chr11	28112262	28112262	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caataaatgtaaaatttcttCtgaggatttgggctggagaa	10	4	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:28112262C>G	ENST00000263181.6	-	5	891	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AAAATTTCTTCTGAGGATTTG	0.299																																																	0													115	108	110					11																	28112262		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.601G>C	11.37:g.28112262C>G	ENSP00000263181:p.Glu201Gln		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E201Q	ENST00000263181.6	37	c.601	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673558	0.47781	.	.	ENSG00000121621	ENST00000263181	T	0.77877	-1.13	5.41	4.46	0.54185	Kinesin, motor domain (4);	0.150672	0.64402	D	0.000018	T	0.75759	0.3893	L	0.48935	1.535	0.58432	D	0.999999	B	0.25272	0.122	B	0.39152	0.292	T	0.68784	-0.5317	10	0.16420	T	0.52	.	15.3437	0.74317	0.0:0.7408:0.2592:0.0	.	201	Q8NI77	KI18A_HUMAN	Q	201	ENSP00000263181:E201Q	ENSP00000263181:E201Q	E	-	1	0	KIF18A	28068838	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.063000	0.49978	2.552000	0.86080	0.655000	0.94253	GAA	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.299	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28112262	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28112262	C	G	28112262	3	3	147	1	0	0	0	0	1	0	0	0	8300	922	32	1	2147	1	KIF18A	11	28112262	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	21	28112262	106894254	661	23915										
QSER1	79832	genome.wustl.edu	37	chr11	32975658	32975658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaggaggacacagaaagcgGaggagaaggccaatacagag	16	6	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:32975658G>A	ENST00000399302.2	+	5	4381	c.4046G>A	c.(4045-4047)gGa>gAa	p.G1349E	QSER1_ENST00000527788.1_Missense_Mutation_p.G1110E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1349										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGAAAGCGGAGGAGAAGGC	0.433																																																	0													151	159	156					11																	32975658		2019	4184	6203	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4046G>A	11.37:g.32975658G>A	ENSP00000382241:p.Gly1349Glu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.G1349E	ENST00000399302.2	37	c.4046	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436366|4.436366	0.83885|0.83885	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.41758	.|1.33;0.99	5.92|5.92	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.57140|0.57140	0.2033|0.2033	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.61697	.|0.565;0.99;0.465	.|B;P;B	.|0.52909	.|0.217;0.713;0.064	T|T	0.63125|0.63125	-0.6707|-0.6707	5|10	.|0.52906	.|T	.|0.07	.|.	13.3415|13.3415	0.60547|0.60547	0.1323:0.0:0.8677:0.0|0.1323:0.0:0.8677:0.0	.|.	.|1110;1110;1349	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	K|E	370|1349;1110;1110	.|ENSP00000382241:G1349E;ENSP00000432766:G1110E	.|ENSP00000078652:G1110E	E|G	+|+	1|2	0|0	QSER1|QSER1	32932234|32932234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.392000|5.392000	0.66272|0.66272	1.486000|1.486000	0.48398|0.48398	0.585000|0.585000	0.79938|0.79938	GAG|GGA	QSER1	-	NULL		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	G	NM_024774		32975658	1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32975658	G	A	32975658	3	1	147	1	0	0	0	0	1	0	0	0	12912	1174	41	1	4056	1	QSER1	11	32975658	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4863396	32975658	102030858	662	23916										
CD44	960	genome.wustl.edu	37	chr11	35227665	35227665	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcatggtcacagcagcctCagctcataccagccatccaa	7	16	3	0	rs371026548		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:35227665C>T	ENST00000428726.2	+	11	1412	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S430L|CD44_ENST00000360158.4_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.S387L|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S387L|CD44_ENST00000433354.2_Missense_Mutation_p.S431L|CD44_ENST00000278386.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	430	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	ACAGCAGCCTCAGCTCATACC	0.453																																																	0								C	LEU/SER,LEU/SER,,,,,,	1,4403	2.1+/-5.4	0,1,2201	162	123	136		1289,1160,,,,,,	4	0.2	11		136	0,8596		0,0,4298	no	missense,missense,intron,intron,intron,intron,intron,intron	CD44	NM_000610.3,NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1,NM_001202555.1,NM_001202556.1,NM_001202557.1	145,145,,,,,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,,,,,	430/743,387/700,,,,,,	35227665	1,12999	2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1289C>T	11.37:g.35227665C>T	ENSP00000398632:p.Ser430Leu		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.S430L	ENST00000428726.2	37	c.1289	CCDS7897.1	11	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035161	0.35893	2.27E-4	0.0	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110	T;T;T;T;T;T;T	0.20463	2.21;2.21;2.21;2.21;2.21;2.07;2.21	4.87	3.95	0.45737	.	0.641922	0.13911	N	0.354275	T	0.24160	0.0585	M	0.62723	1.935	0.22947	N	0.998524	P;B	0.36909	0.573;0.437	B;B	0.36244	0.22;0.154	T	0.11494	-1.0585	10	0.56958	D	0.05	-7.1208	11.2771	0.49174	0.0:0.8158:0.1842:0.0	.	387;430	P16070-4;P16070	.;CD44_HUMAN	L	387;431;387;430;430;204;142	ENSP00000389830:S387L;ENSP00000414567:S431L;ENSP00000391008:S387L;ENSP00000403990:S430L;ENSP00000398632:S430L;ENSP00000432405:S204L;ENSP00000436549:S142L	ENSP00000389830:S387L	S	+	2	0	CD44	35184241	0.017000	0.18338	0.201000	0.23476	0.010000	0.07245	1.949000	0.40313	1.389000	0.46526	-0.175000	0.13238	TCA	CD44	-	NULL		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	C	NM_000610		35227665	1	no_errors	ENST00000428726	ensembl	human	known	70_37	missense	SNP	0.117	T	T	35227665	C	T	35227665	3	4	147	1	0	0	0	0	1	0	0	0	3022	838	29	1	1331	1	CD44	11	35227665	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2252007	35227665	99778851	663	23917										
RAG2	5897	genome.wustl.edu	37	chr11	36614675	36614675	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtatcatcttcagcacatttCaacatatagaaatagaatcc	4	9	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:36614675C>G	ENST00000311485.3	-	2	1205	c.1044G>C	c.(1042-1044)ttG>ttC	p.L348F	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	348					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAGCACATTTCAACATATAGA	0.383									Familial Hemophagocytic Lymphohistiocytosis																																								0													164	162	163					11																	36614675		2202	4298	6500	SO:0001583	missense	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1044G>C	11.37:g.36614675C>G	ENSP00000308620:p.Leu348Phe		A8K9E9|Q8TBL4	Missense_Mutation	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.L348F	ENST00000311485.3	37	c.1044	CCDS7903.1	11	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949055	0.34377	.	.	ENSG00000175097	ENST00000311485	D	0.91945	-2.94	5.1	3.23	0.37069	.	0.080796	0.48767	D	0.000167	D	0.95667	0.8591	M	0.89287	3.02	0.47476	D	0.99943	D	0.76494	0.999	D	0.87578	0.998	D	0.94382	0.7605	10	0.87932	D	0	-5.8296	7.3376	0.26619	0.0:0.7143:0.1375:0.1482	.	348	P55895	RAG2_HUMAN	F	348	ENSP00000308620:L348F	ENSP00000308620:L348F	L	-	3	2	RAG2	36571251	1.000000	0.71417	0.973000	0.42090	0.497000	0.33675	1.385000	0.34408	0.645000	0.30675	0.650000	0.86243	TTG	RAG2	-	pfam_RAG2		0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1	C	NM_000536		36614675	-1	no_errors	ENST00000311485	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36614675	C	G	36614675	3	3	147	1	0	0	0	0	1	0	0	0	13035	825	29	1	543	1	RAG2	11	36614675	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1387010	36614675	98391841	664	23918										
SLC35C1	55343	genome.wustl.edu	37	chr11	45832868	45832868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agccccaaagacagcgagaaGagcgccatgggggtgtgagc	16	10	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:45832868G>C	ENST00000314134.3	+	2	2473	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N	CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Missense_Mutation_p.K346N|SLC35C1_ENST00000442528.2_Missense_Mutation_p.K346N	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	359					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		ACAGCGAGAAGAGCGCCATGG	0.672																																																	0													8	10	10					11																	45832868		2187	4283	6470	SO:0001583	missense	55343				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.1077G>C	11.37:g.45832868G>C	ENSP00000313318:p.Lys359Asn		B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA,pfam_DMT	p.K359N	ENST00000314134.3	37	c.1077	CCDS7914.1	11	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867806	0.32977	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000314134	T;T;T	0.67865	-0.25;-0.25;-0.29	5.75	2.86	0.33363	.	0.232730	0.49305	D	0.000145	T	0.53351	0.1791	L	0.44542	1.39	0.43039	D	0.994628	B	0.29988	0.264	B	0.25506	0.061	T	0.48864	-0.8997	10	0.33141	T	0.24	-29.7048	9.5839	0.39504	0.3298:0.0:0.6702:0.0	.	359	Q96A29	FUCT1_HUMAN	N	346;346;359	ENSP00000412408:K346N;ENSP00000399779:K346N;ENSP00000313318:K359N	ENSP00000313318:K359N	K	+	3	2	SLC35C1	45789444	1.000000	0.71417	0.989000	0.46669	0.095000	0.18619	1.549000	0.36212	0.781000	0.33589	0.563000	0.77884	AAG	SLC35C1	-	NULL		0.672	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35C1	HGNC	protein_coding	OTTHUMT00000390139.1	G	NM_018389		45832868	1	no_errors	ENST00000314134	ensembl	human	known	70_37	missense	SNP	0.659	C	C	45832868	G	C	45832868	3	2	147	1	0	0	0	0	1	0	0	0	14609	933	33	1	1083	1	SLC35C1	11	45832868	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9218193	45832868	89173648	665	23919										
MADD	4607	genome.wustl.edu	37	chr11	47350214	47350214	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccgtccggttttagttcctGaaattaaagaagtggtgagc	11	8	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:47350214G>A	ENST00000545968.1	-	0	4217				MADD_ENST00000311027.5_Missense_Mutation_p.E1600K|MADD_ENST00000407859.3_Missense_Mutation_p.E1518K|MADD_ENST00000342922.4_Missense_Mutation_p.E1541K|MADD_ENST00000402799.1_Missense_Mutation_p.E1498K|MADD_ENST00000349238.3_Missense_Mutation_p.E1561K|MADD_ENST00000406482.1_Silent_p.L1474L|MADD_ENST00000402192.2_Missense_Mutation_p.E1540K|MADD_ENST00000395336.3_Silent_p.L1576L|MADD_ENST00000395344.3_Missense_Mutation_p.E1494K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTTAGTTCCTGAAATTAAAGA	0.577																																																	0													102	86	91					11																	47350214		2201	4298	6499	SO:0001628	intergenic_variant	8567			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350214G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1600K	ENST00000545968.1	37	c.4798	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934749	0.52866	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.04454	3.74;3.62;3.75;3.63;3.62;3.62;3.74	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	N	0.02225	-0.63	0.80722	D	1	P;P;P;D;D;D;D	0.76494	0.615;0.671;0.734;0.999;0.999;0.997;0.999	B;B;B;D;D;D;D	0.83275	0.1;0.134;0.203;0.996;0.994;0.991;0.996	T	0.47674	-0.9099	10	0.02654	T	1	-17.1731	20.1363	0.98032	0.0:0.0:1.0:0.0	.	1494;1494;1498;1561;1518;1600;1541	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	K	1541;1498;1561;1600;1518;1494;1540	ENSP00000343902:E1541K;ENSP00000385585:E1498K;ENSP00000304505:E1561K;ENSP00000310933:E1600K;ENSP00000384204:E1518K;ENSP00000378753:E1494K;ENSP00000384287:E1540K	ENSP00000310933:E1600K	E	+	1	0	MADD	47306790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.167000	0.94773	2.774000	0.95407	0.484000	0.47621	GAA	MADD	-	NULL		0.577	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000392271.3	G			47350214	1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47350214	G	A	47350214	1	1	147	0	1	0	0	0	0	0	0	0	9175	1291	45	1		1	MADD	11	47350214	IGR	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1517346	47350214	87656302	666	23920										
OR4C3	256144	genome.wustl.edu	37	chr11	48346555	48346555	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcaatactgcacctgcattCtcagtgaccttggaatctat	8	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:48346555C>G	ENST00000319856.4	+	1	84	c.63C>G	c.(61-63)ttC>ttG	p.F21L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CACCTGCATTCTCAGTGACCT	0.388																																																	0													124	126	125					11																	48346555		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.63C>G	11.37:g.48346555C>G	ENSP00000321419:p.Phe21Leu		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F21L	ENST00000319856.4	37	c.63	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	c	11.74	1.730020	0.30684	.	.	ENSG00000176547	ENST00000319856	T	0.06849	3.25	5.23	-1.75	0.08031	.	1.377790	0.05168	N	0.499122	T	0.02767	0.0083	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40459	-0.9562	7	0.07813	T	0.8	.	2.0468	0.03562	0.1257:0.4421:0.1229:0.3093	.	.	.	.	L	21	ENSP00000321419:F21L	ENSP00000321419:F21L	F	+	3	2	OR4C3	48303131	0.004000	0.15560	0.000000	0.03702	0.113000	0.19764	0.878000	0.28126	-0.141000	0.11374	-1.033000	0.02402	TTC	OR4C3	-	NULL		0.388	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	C	NM_001004702		48346555	1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.000	G	G	48346555	C	G	48346555	3	3	147	1	0	0	0	0	1	0	0	0	11074	912	32	1	65	1	OR4C3	11	48346555	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	996341	48346555	86659961	667	23921										
OR4A16	81327	genome.wustl.edu	37	chr11	55111510	55111510	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttattcaattatcacactCatgttgaatcctttaatata	2	7	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:55111510C>T	ENST00000314721.2	+	1	884	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTATCACACTCATGTTGAATC	0.313																																																	0													86	81	83					11																	55111510		2201	4296	6497	SO:0001819	synonymous_variant	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.834C>T	11.37:g.55111510C>T			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L278	ENST00000314721.2	37	c.834	CCDS31499.1	11																																																																																			OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.313	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	C	NM_001005274		55111510	1	no_errors	ENST00000314721	ensembl	human	known	70_37	silent	SNP	0.992	T	T	55111510	C	T	55111510	2	4	147	1	0	0	0	0	0	0	0	1	11065	813	29	1		1	OR4A16	11	55111510	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6764955	55111510	79895006	668	23922										
OR8H3	390152	genome.wustl.edu	37	chr11	55890695	55890695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgttttatactattgtgattCccatgctgaatccactcatt	5	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:55890695C>G	ENST00000313472.3	+	1	847	c.847C>G	c.(847-849)Ccc>Gcc	p.P283A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TATTGTGATTCCCATGCTGAA	0.363																																																	0													102	105	104					11																	55890695		2201	4296	6497	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.847C>G	11.37:g.55890695C>G	ENSP00000323928:p.Pro283Ala		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P283A	ENST00000313472.3	37	c.847	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101995	0.56183	.	.	ENSG00000181761	ENST00000313472	T	0.00340	8.04	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.00815	0.0027	M	0.90369	3.11	0.40407	D	0.979715	P	0.51057	0.941	P	0.54924	0.764	T	0.65327	-0.6195	10	0.87932	D	0	.	15.6872	0.77421	0.0:1.0:0.0:0.0	.	283	Q8N146	OR8H3_HUMAN	A	283	ENSP00000323928:P283A	ENSP00000323928:P283A	P	+	1	0	OR8H3	55647271	0.997000	0.39634	0.993000	0.49108	0.697000	0.40408	4.070000	0.57548	1.734000	0.51633	0.173000	0.16961	CCC	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.363	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	C	NM_001005201		55890695	1	no_errors	ENST00000313472	ensembl	human	known	70_37	missense	SNP	0.992	G	G	55890695	C	G	55890695	3	3	147	1	0	0	0	0	1	0	0	0	11263	855	30	1	849	1	OR8H3	11	55890695	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	779185	55890695	79115821	669	23923										
OR5M1	390168	genome.wustl.edu	37	chr11	56380559	56380559	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atagtgaccagacagacacaGatgttcttggacatcctgga	10	9	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:56380559G>C	ENST00000526538.1	-	1	419	c.420C>G	c.(418-420)atC>atG	p.I140M		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I140I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GACAGACACAGATGTTCTTGG	0.448																																																	1	Substitution - coding silent(1)	lung(1)											138	120	126					11																	56380559		1979	4175	6154	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.420C>G	11.37:g.56380559G>C	ENSP00000435416:p.Ile140Met		Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I140M	ENST00000526538.1	37	c.420	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	G	3.407	-0.120963	0.06838	.	.	ENSG00000255012	ENST00000526538	T	0.00174	8.62	3.71	-7.41	0.01392	GPCR, rhodopsin-like superfamily (1);	1.203820	0.06409	N	0.720185	T	0.00109	0.0003	N	0.11106	0.095	0.09310	N	1	B	0.18166	0.026	B	0.29176	0.099	T	0.27673	-1.0067	10	0.66056	D	0.02	-24.1449	7.9344	0.29920	0.2373:0.3199:0.4428:0.0	.	140	Q8NGP8	OR5M1_HUMAN	M	140	ENSP00000435416:I140M	ENSP00000435416:I140M	I	-	3	3	OR5M1	56137135	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-4.528000	0.00220	-0.974000	0.03550	0.280000	0.19369	ATC	OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56380559	-1	no_errors	ENST00000526538	ensembl	human	known	70_37	missense	SNP	0.000	C	C	56380559	G	C	56380559	3	2	147	1	0	0	0	0	1	0	0	0	11196	932	33	1	531	1	OR5M1	11	56380559	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	489864	56380559	78625957	670	23924										
OR9Q1	219956	genome.wustl.edu	37	chr11	57947066	57947066	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagatgattattctgatcctCatggatcaccagctccacgc	8	12	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:57947066C>T	ENST00000335397.3	+	3	466	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTCTGATCCTCATGGATCACC	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											260	239	246					11																	57947066		2201	4296	6497	SO:0001819	synonymous_variant	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.150C>T	11.37:g.57947066C>T			Q2TAN3|Q96RA7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L50	ENST00000335397.3	37	c.150	CCDS31543.1	11																																																																																			OR9Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q1	HGNC	protein_coding	OTTHUMT00000394538.2	C	NM_001005212		57947066	1	no_errors	ENST00000335397	ensembl	human	known	70_37	silent	SNP	0.000	T	T	57947066	C	T	57947066	2	4	147	1	0	0	0	0	0	0	0	1	11279	813	29	1		1	OR9Q1	11	57947066	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1566507	57947066	77059450	671	23925										
OR1S1	219959	genome.wustl.edu	37	chr11	57982586	57982586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctattgtgtttgtcgtcattGacaatttgctcttggggacc	10	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:57982586G>A	ENST00000309433.6	+	1	370	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTCGTCATTGACAATTTGCT	0.448																																																	0													183	172	175					11																	57982586		2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.370G>A	11.37:g.57982586G>A	ENSP00000311688:p.Asp124Asn		Q6IFG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D124N	ENST00000309433.6	37	c.370	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	G	7.296	0.611963	0.14066	.	.	ENSG00000172774	ENST00000309433	T	0.00627	6.12	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.128601	0.34580	N	0.003848	T	0.01156	0.0038	M	0.62016	1.91	0.09310	N	1	B	0.21520	0.057	B	0.23852	0.049	T	0.36407	-0.9749	10	0.87932	D	0	.	14.1	0.65049	0.0:0.0:1.0:0.0	.	124	Q8NH92	OR1S1_HUMAN	N	124	ENSP00000311688:D124N	ENSP00000311688:D124N	D	+	1	0	OR1S1	57739162	0.160000	0.22878	0.874000	0.34290	0.149000	0.21700	2.066000	0.41452	1.770000	0.52166	0.479000	0.44913	GAC	OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	G	NM_001004458		57982586	1	no_errors	ENST00000309433	ensembl	human	known	70_37	missense	SNP	0.004	A	A	57982586	G	A	57982586	3	1	147	1	0	0	0	0	1	0	0	0	10996	1290	45	1	372	1	OR1S1	11	57982586	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	35520	57982586	77023930	672	23926										
OR1S1	219959	genome.wustl.edu	37	chr11	57983057	57983057	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcccctcctccactcaccctGaggacactgataagattggt	7	15	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:57983057G>C	ENST00000309433.6	+	1	841	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CACTCACCCTGAGGACACTGA	0.478																																																	0													134	120	125					11																	57983057		2201	4295	6496	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.841G>C	11.37:g.57983057G>C	ENSP00000311688:p.Glu281Gln		Q6IFG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E281Q	ENST00000309433.6	37	c.841	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188178	0.21954	.	.	ENSG00000172774	ENST00000309433	T	0.00099	8.73	3.23	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.584260	0.15309	N	0.269171	T	0.00073	0.0002	N	0.02266	-0.62	0.09310	N	1	P	0.41546	0.754	B	0.42959	0.403	T	0.22941	-1.0202	10	0.72032	D	0.01	.	4.2686	0.10775	0.1375:0.2402:0.6222:0.0	.	281	Q8NH92	OR1S1_HUMAN	Q	281	ENSP00000311688:E281Q	ENSP00000311688:E281Q	E	+	1	0	OR1S1	57739633	0.000000	0.05858	0.014000	0.15608	0.782000	0.44232	0.697000	0.25556	0.561000	0.29186	0.479000	0.44913	GAG	OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.478	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	G	NM_001004458		57983057	1	no_errors	ENST00000309433	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57983057	G	C	57983057	3	2	147	1	0	0	0	0	1	0	0	0	10996	1291	45	1	843	1	OR1S1	11	57983057	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	471	57983057	77023459	673	23927										
PATL1	219988	genome.wustl.edu	37	chr11	59426377	59426377	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcggattcgcctcagaacttCagatccatcccagatactgg	8	13	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:59426377C>G	ENST00000300146.9	-	4	472	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	130	Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCAGAACTTCAGATCCATCC	0.373																																																	0													71	64	66					11																	59426377		692	1591	2283	SO:0001583	missense	219988			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.388G>C	11.37:g.59426377C>G	ENSP00000300146:p.Glu130Gln		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.E130Q	ENST00000300146.9	37	c.388	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632784	0.29068	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.44083	0.93	5.0	5.0	0.66597	.	0.235335	0.41605	D	0.000853	T	0.21427	0.0516	N	0.08118	0	0.29839	N	0.829415	B;B	0.31413	0.232;0.322	B;B	0.30316	0.07;0.114	T	0.12319	-1.0552	10	0.13853	T	0.58	-15.9172	12.188	0.54250	0.1704:0.8296:0.0:0.0	.	130;130	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	Q	130	ENSP00000300146:E130Q	ENSP00000300146:E130Q	E	-	1	0	PATL1	59182953	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.026000	0.41069	2.319000	0.78375	0.644000	0.83932	GAA	PATL1	-	pfam_Topo_II-assoc_PAT1		0.373	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	C	NM_152716		59426377	-1	no_errors	ENST00000300146	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59426377	C	G	59426377	3	3	147	1	0	0	0	0	1	0	0	0	11499	835	29	1	1988	1	PATL1	11	59426377	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1443320	59426377	75580139	674	23928										
DAGLA	747	genome.wustl.edu	37	chr11	61491027	61491027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagaggaggcagcgtaacctGcggacctacaacctgcggtc	13	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:61491027G>A	ENST00000257215.5	+	5	647	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	177					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGCGTAACCTGCGGACCTACA	0.602																																																	0													106	94	98					11																	61491027		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.531G>A	11.37:g.61491027G>A			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.L177	ENST00000257215.5	37	c.531	CCDS31578.1	11																																																																																			DAGLA	-	NULL		0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	G	NM_006133		61491027	1	no_errors	ENST00000257215	ensembl	human	known	70_37	silent	SNP	0.998	A	A	61491027	G	A	61491027	2	1	147	1	0	0	0	0	0	0	0	1	4231	1306	46	4		4	DAGLA	11	61491027	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2064650	61491027	73515489	675	23929										
C11orf9	745	genome.wustl.edu	37	chr11	61541448	61541448	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgcccccccaggcccatgctCacctaccgcgtggatgcgga	11	19	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:61541448C>A	ENST00000278836.5	+	8	1221	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	MYRF_ENST00000327797.1_Silent_p.L2L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.L366L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	375					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L366L(1)									GGCCCATGCTCACCTACCGCG	0.612																																																	1	Substitution - coding silent(1)	breast(1)											44	42	43					11																	61541448		2202	4299	6501	SO:0001819	synonymous_variant	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1125C>A	11.37:g.61541448C>A			O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.L375	ENST00000278836.5	37	c.1125	CCDS44622.1	11																																																																																			C11orf9	-	superfamily_p53-like_TF_DNA-bd		0.612	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	C	NM_013279		61541448	1	no_errors	ENST00000278836	ensembl	human	known	70_37	silent	SNP	1.000	A	A	61541448	C	A	61541448	2	1	147	1	0	0	0	0	0	0	0	1	1675	813	29	3		3	C11orf9	11	61541448	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	50421	61541448	73465068	676	23930										
SCGB1D2	10647	genome.wustl.edu	37	chr11	62010802	62010802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcttgtttctgagctgttaGacttcttcttcattagtgaa	7	8	5	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:62010802G>C	ENST00000244926.3	+	2	195	c.97G>C	c.(97-99)Gac>Cac	p.D33H	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	33						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						TGAGCTGTTAGACTTCTTCTT	0.428																																																	0													131	127	128					11																	62010802		2202	4299	6501	SO:0001583	missense	10647			AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"Secretoglobins"	18396	protein-coding gene	gene with protein product	"prostatein-like lipophilin B", "lipophilin B (uteroglobin family member), prostatein-like"	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.97G>C	11.37:g.62010802G>C	ENSP00000244926:p.Asp33His		Q2M3N9	Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.D33H	ENST00000244926.3	37	c.97	CCDS8017.1	11	.	.	.	.	.	.	.	.	.	.	G	3.113	-0.182163	0.06340	.	.	ENSG00000124935	ENST00000244926	T	0.14266	2.52	2.44	-4.87	0.03123	.	2.586340	0.01798	N	0.032731	T	0.08846	0.0219	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.23150	0.044	T	0.19224	-1.0312	9	0.52906	T	0.07	.	0.4767	0.00541	0.417:0.1361:0.1745:0.2724	.	33	O95969	SG1D2_HUMAN	H	33	ENSP00000244926:D33H	ENSP00000244926:D33H	D	+	1	0	SCGB1D2	61767378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.208000	0.00557	-2.264000	0.00689	0.313000	0.20887	GAC	SCGB1D2	-	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin		0.428	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D2	HGNC	protein_coding	OTTHUMT00000394859.1	G	NM_006551		62010802	1	no_errors	ENST00000244926	ensembl	human	known	70_37	missense	SNP	0.000	C	C	62010802	G	C	62010802	3	2	147	1	0	0	0	0	1	0	0	0	13927	942	33	1	103	1	SCGB1D2	11	62010802	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	469354	62010802	72995714	677	23931										
SLC22A24	283238	genome.wustl.edu	37	chr11	62871656	62871656	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttccagatcacctcagtggtCagtgtctcttcagtattctt	7	11	6	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:62871656C>T	ENST00000417740.1	-	5	1386	c.945G>A	c.(943-945)ctG>ctA	p.L315L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CCTCAGTGGTCAGTGTCTCTT	0.413																																																	0													262	227	237					11																	62871656		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.945G>A	11.37:g.62871656C>T				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L315	ENST00000417740.1	37	c.945		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.413	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871656	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	silent	SNP	0.147	T	T	62871656	C	T	62871656	2	4	147	1	0	0	0	0	0	0	0	1	14483	813	29	1		1	SLC22A24	11	62871656	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	860854	62871656	72134860	678	23932										
PLCB3	5331	genome.wustl.edu	37	chr11	64026147	64026147	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actgccttcaagacctcgccCtaccccgtcatcctctcctt	4	20	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:64026147C>G	ENST00000540288.1	+	11	1318	c.1215C>G	c.(1213-1215)ccC>ccG	p.P405P	PLCB3_ENST00000279230.6_Silent_p.P405P|PLCB3_ENST00000325234.5_Silent_p.P338P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	405	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGACCTCGCCCTACCCCGTCA	0.602																																																	0													111	93	99					11																	64026147		2201	4297	6498	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1215C>G	11.37:g.64026147C>G			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P405	ENST00000540288.1	37	c.1215	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.602	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	C			64026147	1	no_errors	ENST00000279230	ensembl	human	known	70_37	silent	SNP	1.000	G	G	64026147	C	G	64026147	2	3	147	1	0	0	0	0	0	0	0	1	12053	668	24	4		4	PLCB3	11	64026147	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1154491	64026147	70980369	679	23933										
NRXN2	9379	genome.wustl.edu	37	chr11	64428387	64428387	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcccacagccccctgagcctCagccaggccccggaggtctc	11	20	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:64428387C>T	ENST00000377551.1	-	9	2234	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	NRXN2_ENST00000265459.6_Missense_Mutation_p.E675K|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.E644K|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.E668K			Q9P2S2	NRX2A_HUMAN	neurexin 2	675	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCTGAGCCTCAGCCAGGCCC	0.672																																																	0													40	40	40					11																	64428387		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2023G>A	11.37:g.64428387C>T	ENSP00000366774:p.Glu675Lys		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E675K	ENST00000377551.1	37	c.2023	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938583	0.73557	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.43110	U	0.000601	D	0.82444	0.5038	L	0.46885	1.475	0.58432	D	0.999998	D;P;P	0.63046	0.992;0.765;0.881	D;B;P	0.63488	0.915;0.325;0.471	T	0.81931	-0.0707	10	0.40728	T	0.16	.	14.8054	0.69952	0.0:1.0:0.0:0.0	.	644;675;421	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	675;644;675;644;668	ENSP00000366774:E675K;ENSP00000366782:E644K;ENSP00000265459:E675K;ENSP00000386416:E668K	ENSP00000265459:E675K	E	-	1	0	NRXN2	64184963	1.000000	0.71417	0.904000	0.35570	0.740000	0.42216	5.752000	0.68728	2.355000	0.79922	0.555000	0.69702	GAG	NRXN2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.672	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	C	NM_015080		64428387	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	missense	SNP	0.998	T	T	64428387	C	T	64428387	3	4	147	1	0	0	0	0	1	0	0	0	10690	835	29	1	3440	1	NRXN2	11	64428387	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	402240	64428387	70578129	680	23934										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64594791	64594791	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcctccgacacgcggaaaaaGaagcggcgcttgctcttggt	12	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:64594791G>T	ENST00000342711.5	-	33	4229	c.4230C>A	c.(4228-4230)ttC>ttA	p.F1410L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGCGGAAAAAGAAGCGGCGCT	0.667																																																	0													70	79	76					11																	64594791		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4230C>A	11.37:g.64594791G>T	ENSP00000345133:p.Phe1410Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.F1410L	ENST00000342711.5	37	c.4230	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211084	0.58343	.	.	ENSG00000171219	ENST00000342711	T	0.74421	-0.84	4.82	-0.511	0.11970	.	0.306973	0.23971	N	0.042778	T	0.65678	0.2714	M	0.73598	2.24	0.35444	D	0.795164	P	0.35745	0.518	B	0.31390	0.129	T	0.64863	-0.6307	10	0.87932	D	0	.	5.3264	0.15908	0.4232:0.1437:0.433:0.0	.	1410	Q6DT37	MRCKG_HUMAN	L	1410	ENSP00000345133:F1410L	ENSP00000345133:F1410L	F	-	3	2	CDC42BPG	64351367	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	0.904000	0.28491	-0.040000	0.13580	-0.254000	0.11334	TTC	CDC42BPG	-	NULL		0.667	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64594791	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	0.987	T	T	64594791	G	T	64594791	3	4	147	1	0	0	0	0	1	0	0	0	3079	933	33	3	445	3	CDC42BPG	11	64594791	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	166404	64594791	70411725	681	23935										
POLA2	23649	genome.wustl.edu	37	chr11	65064734	65064734	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attgctgtgcaggtcgtcagGatctgaggcttctgtcctct	12	10	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65064734G>A	ENST00000265465.3	+	18	2322	c.1791G>A	c.(1789-1791)agG>agA	p.R597R	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	597					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGTCGTCAGGATCTGAGGCT	0.592																																																	0													59	63	62					11																	65064734		2201	4297	6498	SO:0001819	synonymous_variant	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1791G>A	11.37:g.65064734G>A			B4DNB4|Q9BPV3	Silent	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.R597	ENST00000265465.3	37	c.1791	CCDS8098.1	11																																																																																			POLA2	-	pirsf_DNA_pol_alpha_bsu		0.592	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	G	NM_002689		65064734	1	no_errors	ENST00000265465	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65064734	G	A	65064734	2	1	147	1	0	0	0	0	0	0	0	1	12212	1165	41	1		1	POLA2	11	65064734	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	469943	65064734	69941782	682	23936										
KAT5	10524	genome.wustl.edu	37	chr11	65482041	65482041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggtgtctgatcgaagccacGacgacatcgtcacccggatg	12	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65482041G>A	ENST00000377046.3	+	8	939	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KAT5_ENST00000341318.4_Missense_Mutation_p.D256N|KAT5_ENST00000352980.4_Missense_Mutation_p.D171N|KAT5_ENST00000530446.1_Missense_Mutation_p.D204N|KAT5_ENST00000534650.1_Missense_Mutation_p.D12N	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	223					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCGAAGCCACGACGACATCGT	0.592																																																	0													117	92	100					11																	65482041		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.667G>A	11.37:g.65482041G>A	ENSP00000366245:p.Asp223Asn		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.D256N	ENST00000377046.3	37	c.766	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764825	0.69878	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534104;ENST00000528198;ENST00000531880;ENST00000534650;ENST00000534681	T;T;T;T;T;T	0.49139	0.94;0.94;0.92;0.94;0.8;0.79	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48218	1.51	0.80722	D	1	P;D;P;P	0.53745	0.646;0.962;0.87;0.879	B;P;B;B	0.45406	0.116;0.479;0.232;0.177	T	0.30238	-0.9985	10	0.31617	T	0.26	-27.098	13.2997	0.60317	0.0:0.0:1.0:0.0	.	204;256;171;223	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	N	223;171;256;204;12;165;217;12;12	ENSP00000366245:D223N;ENSP00000344955:D171N;ENSP00000340330:D256N;ENSP00000434765:D204N;ENSP00000436000:D165N;ENSP00000436012:D217N	ENSP00000340330:D256N	D	+	1	0	KAT5	65238617	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.029000	0.93718	2.498000	0.84270	0.462000	0.41574	GAC	KAT5	-	NULL		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	G	NM_006388		65482041	1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65482041	G	A	65482041	3	1	147	1	0	0	0	0	1	0	0	0	8003	1058	37	1	792	1	KAT5	11	65482041	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	417307	65482041	69524475	683	23937										
KAT5	10524	genome.wustl.edu	37	chr11	65482375	65482375	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttgagattgatggacgtaaGaacaaggttagtgcttgaga	13	3	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65482375G>C	ENST00000377046.3	+	9	1196	c.924G>C	c.(922-924)aaG>aaC	p.K308N	KAT5_ENST00000341318.4_Missense_Mutation_p.K341N|KAT5_ENST00000352980.4_Missense_Mutation_p.K256N|KAT5_ENST00000530446.1_Missense_Mutation_p.K289N|KAT5_ENST00000534650.1_Missense_Mutation_p.K97N	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	308	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						ATGGACGTAAGAACAAGGTTA	0.507																																																	0													102	83	89					11																	65482375		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.924G>C	11.37:g.65482375G>C	ENSP00000366245:p.Lys308Asn		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.K341N	ENST00000377046.3	37	c.1023	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315789	0.60524	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50548	0.76;0.78;0.74;0.77	5.1	-2.0	0.07433	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.80764	0.994;0.989;0.989;0.991	T	0.63879	-0.6537	10	0.66056	D	0.02	-18.7829	10.8126	0.46555	0.6771:0.0:0.3229:0.0	.	289;341;256;308	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	N	308;256;341;289;97	ENSP00000366245:K308N;ENSP00000344955:K256N;ENSP00000340330:K341N;ENSP00000434765:K289N	ENSP00000340330:K341N	K	+	3	2	KAT5	65238951	1.000000	0.71417	0.800000	0.32199	0.895000	0.52256	0.720000	0.25896	-0.603000	0.05767	-0.258000	0.10820	AAG	KAT5	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.507	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	G	NM_006388		65482375	1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	0.981	C	C	65482375	G	C	65482375	3	2	147	1	0	0	0	0	1	0	0	0	8003	933	33	1	1053	1	KAT5	11	65482375	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	334	65482375	69524141	684	23938										
CCDC87	55231	genome.wustl.edu	37	chr11	66358231	66358231	+	Silent	SNP	G	G	A													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagctcaagttggtctttttGaagaagcggttgggattgga							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358231G>A	ENST00000333861.3	-	1	2323	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	752					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGTCTTTTTGAAGAAGCGGT	0.537																																																	0													118	126	123					11																	66358231		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2256C>T	11.37:g.66358231G>A			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.F752	ENST00000333861.3	37	c.2256	CCDS8145.1	11																																																																																			CCDC87	-	pfam_MAP65_Ase1_PRC1		0.537	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66358231	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	silent	SNP	0.434	A	A	66358231	G	A	66358231	2	1	147	1	0	0	0	0	0	0	0	1	2867	1281	45	1		1	CCDC87	11	66358231	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	875856	66358231	68648285	685	23939	133	2	4	106		4	3	266	N	G_C	4.921481e-05
CCDC87	55231	genome.wustl.edu	37	chr11	66358234	66358234	+	Silent	SNP	G	G	A													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcaagttggtctttttgaaGaagcggttgggattggaagc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358234G>A	ENST00000333861.3	-	1	2320	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	751					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTTTTGAAGAAGCGGTTGG	0.527																																																	0													118	126	123					11																	66358234		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2253C>T	11.37:g.66358234G>A			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.F751	ENST00000333861.3	37	c.2253	CCDS8145.1	11																																																																																			CCDC87	-	pfam_MAP65_Ase1_PRC1		0.527	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66358234	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66358234	G	A	66358234	2	1	147	1	0	0	0	0	0	0	0	1	2867	933	33	1		1	CCDC87	11	66358234	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3	66358234	68648282	686	23940	133	2	4	106		4	3	266	N	G_C	4.921481e-05
CCDC87	55231	genome.wustl.edu	37	chr11	66358455	66358455	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagatgcttctgcaggctcaGaattttgtggggttctccca	11	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358455G>T	ENST00000333861.3	-	1	2099	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCAGGCTCAGAATTTTGTGG	0.532																																																	0													50	49	49					11																	66358455		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2032C>A	11.37:g.66358455G>T	ENSP00000328487:p.Leu678Met		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.L678M	ENST00000333861.3	37	c.2032	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	G	9.274	1.046339	0.19748	.	.	ENSG00000182791	ENST00000333861	T	0.33438	1.41	4.94	2.92	0.33932	.	1.305430	0.05981	N	0.644134	T	0.35422	0.0931	L	0.56769	1.78	0.09310	N	1	P	0.50943	0.94	P	0.48030	0.564	T	0.17198	-1.0377	10	0.30078	T	0.28	.	5.1881	0.15195	0.1052:0.0:0.677:0.2179	.	678	Q9NVE4	CCD87_HUMAN	M	678	ENSP00000328487:L678M	ENSP00000328487:L678M	L	-	1	2	CCDC87	66115031	0.003000	0.15002	0.253000	0.24343	0.242000	0.25591	0.422000	0.21296	1.310000	0.45006	0.462000	0.41574	CTG	CCDC87	-	NULL		0.532	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66358455	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.002	T	T	66358455	G	T	66358455	3	4	147	1	0	0	0	0	1	0	0	0	2867	933	33	3	521	3	CCDC87	11	66358455	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	221	66358455	68648061	687	23941			4	106		4	3	266	N	G_C	4.921481e-05
CCDC87	55231	genome.wustl.edu	37	chr11	66358496	66358496	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtggggtgtcttcccagctCctagcctgtgctctagcaca	12	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358496C>G	ENST00000333861.3	-	1	2058	c.1991G>C	c.(1990-1992)gGa>gCa	p.G664A	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	664					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCCCAGCTCCTAGCCTGTG	0.537																																																	0													57	58	58					11																	66358496		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1991G>C	11.37:g.66358496C>G	ENSP00000328487:p.Gly664Ala		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.G664A	ENST00000333861.3	37	c.1991	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	3.811	-0.039755	0.07497	.	.	ENSG00000182791	ENST00000333861	T	0.34859	1.34	4.62	-0.745	0.11098	.	1.033930	0.07728	N	0.944828	T	0.32466	0.0830	M	0.64997	1.995	0.09310	N	1	P	0.46784	0.884	B	0.38225	0.268	T	0.29610	-1.0006	10	0.59425	D	0.04	.	7.7102	0.28673	0.0:0.4818:0.0:0.5182	.	664	Q9NVE4	CCD87_HUMAN	A	664	ENSP00000328487:G664A	ENSP00000328487:G664A	G	-	2	0	CCDC87	66115072	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.118000	0.15605	-0.330000	0.08514	-1.244000	0.01528	GGA	CCDC87	-	NULL		0.537	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	C	NM_018219		66358496	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.000	G	G	66358496	C	G	66358496	3	3	147	1	0	0	0	0	1	0	0	0	2867	855	30	1	562	1	CCDC87	11	66358496	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	41	66358496	68648020	688	23942			4	106		4	3	266	N	G_C	4.921481e-05
GPR152	390212	genome.wustl.edu	37	chr11	67219821	67219821	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcaggcagcggtcgaggctGagggcggccagcaggaagag	20	9	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:67219821G>C	ENST00000312457.2	-	1	379	c.375C>G	c.(373-375)ctC>ctG	p.L125L	CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGTCGAGGCTGAGGGCGGCCA	0.701																																					Pancreas(102;800 1581 2723 7382 33622)												0													20	23	22					11																	67219821		2198	4295	6493	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.375C>G	11.37:g.67219821G>C			Q0VD88|Q86SM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L125	ENST00000312457.2	37	c.375	CCDS8165.1	11																																																																																			GPR152	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.701	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	HGNC	protein_coding	OTTHUMT00000397623.1	G			67219821	-1	no_errors	ENST00000312457	ensembl	human	known	70_37	silent	SNP	1.000	C	C	67219821	G	C	67219821	2	2	147	1	0	0	0	0	0	0	0	1	6677	1277	45	1		1	GPR152	11	67219821	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	861325	67219821	67786695	689	23943										
NDUFV1	4723	genome.wustl.edu	37	chr11	67374475	67374475	+	5'UTR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgacccatctggcccgccgcGatgctggcaacacggcggct	13	16	1	1	rs11540008		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:67374475G>C	ENST00000322776.6	+	0	153				RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000415352.2_5'UTR|NDUFV1_ENST00000529927.1_5'UTR|C11orf72_ENST00000446232.1_5'Flank|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_5'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCGCCGCGATGCTGGCAA	0.672											OREG0021132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18	19	19					11																	67374475		2196	4289	6485	SO:0001623	5_prime_UTR_variant	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.-1G>C	11.37:g.67374475G>C		1099	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	RNA	SNP	-	NULL	ENST00000322776.6	37	NULL	CCDS8173.1	11																																																																																			NDUFV1	-	-		0.672	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	G	NM_007103		67374475	1	no_errors	ENST00000524876	ensembl	human	known	70_37	rna	SNP	0.993	C	C	67374475	G	C	67374475	1	2	147	0	1	0	0	0	0	0	0	0	10323	1073	37	1		1	NDUFV1	11	67374475	5'UTR	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	154654	67374475	67632041	690	23944										
LRP5	4041	genome.wustl.edu	37	chr11	68173992	68173992	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctctgtgttcgcttccagGaaccaacccgtgtgcggaca	11	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68173992G>A	ENST00000294304.7	+	9	1908	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	601	Beta-propeller 2.|EGF-like 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGCTTCCAGGAACCAACCCG	0.627																																																	0													58	59	59					11																	68173992		2200	4294	6494	SO:0001630	splice_region_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1802-1G>A	11.37:g.68173992G>A			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G601E	ENST00000294304.7	37	c.1802	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633593	0.67015	.	.	ENSG00000162337	ENST00000294304	D	0.95447	-3.71	4.11	4.11	0.48088	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48286	U	0.000200	D	0.97717	0.9251	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.98147	1.0439	9	.	.	.	.	16.9499	0.86242	0.0:0.0:1.0:0.0	.	601;601	Q9UES7;O75197	.;LRP5_HUMAN	E	601	ENSP00000294304:G601E	.	G	+	2	0	LRP5	67930568	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	9.335000	0.96500	2.304000	0.77564	0.555000	0.69702	GGA	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.627	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335	Missense_Mutation	68173992	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68173992	G	A	68173992	5	1	147	1	0	0	0	0	0	0	1	0	8983	1188	41	1	1836	1	LRP5	11	68173992	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	799517	68173992	66832524	691	23945										
CPT1A	1374	genome.wustl.edu	37	chr11	68522294	68522294	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccactttgtctcaagtatctGaacttggtccttgacttata	6	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68522294G>C	ENST00000265641.5	-	0	5232				CPT1A_ENST00000376618.2_Nonsense_Mutation_p.S754*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.S754*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)						carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TCAAGTATCTGAACTTGGTCC	0.388																																																	0													126	104	112					11																	68522294		2200	4294	6494	SO:0001628	intergenic_variant	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416			11.37:g.68522294G>C			Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	pfam_Carn_acyl_trans	p.S754*	ENST00000265641.5	37	c.2261	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022705	0.35701	.	.	ENSG00000110090	ENST00000540367;ENST00000376618	.	.	.	2.22	-2.12	0.07165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	3.2868	0.06935	0.4591:0.2221:0.3188:0.0	.	.	.	.	X	754	.	ENSP00000365803:S754X	S	-	2	0	CPT1A	68278870	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.221000	0.17680	-0.575000	0.05982	-0.259000	0.10710	TCA	CPT1A	-	NULL		0.388	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	G	NM_001876		68522294	-1	no_errors	ENST00000376618	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	68522294	G	C	68522294	1	2	147	0	1	0	0	0	0	0	0	0	3836	1294	45	1		1	CPT1A	11	68522294	IGR	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	348302	68522294	66484222	692	23946										
CPT1A	1374	genome.wustl.edu	37	chr11	68562339	68562339	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catggatggcgttgccggctCttgctgcctgaatgtgagtt	14	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68562339C>G	ENST00000265641.5	-	8	966	c.812G>C	c.(811-813)aGa>aCa	p.R271T	CPT1A_ENST00000538994.1_Missense_Mutation_p.R23T|CPT1A_ENST00000539743.1_Missense_Mutation_p.R271T|CPT1A_ENST00000376618.2_Missense_Mutation_p.R271T|CPT1A_ENST00000540367.1_Missense_Mutation_p.R271T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	271					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTTGCCGGCTCTTGCTGCCTG	0.418																																																	0													121	117	118					11																	68562339		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.812G>C	11.37:g.68562339C>G	ENSP00000265641:p.Arg271Thr		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R271T	ENST00000265641.5	37	c.812	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574924	0.65878	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.97940	4.11	0.80722	D	1	P;B;B	0.44986	0.847;0.261;0.346	P;B;B	0.53549	0.729;0.434;0.307	D	0.98773	1.0729	10	0.72032	D	0.01	.	17.9325	0.89002	0.0:1.0:0.0:0.0	.	271;271;271	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	T	271	ENSP00000439084:R271T;ENSP00000365803:R271T;ENSP00000265641:R271T;ENSP00000446108:R271T	ENSP00000265641:R271T	R	-	2	0	CPT1A	68318915	0.994000	0.37717	0.009000	0.14445	0.015000	0.08874	7.401000	0.79962	2.216000	0.71823	0.655000	0.94253	AGA	CPT1A	-	pfam_Carn_acyl_trans		0.418	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	C	NM_001876		68562339	-1	no_errors	ENST00000265641	ensembl	human	known	70_37	missense	SNP	0.888	G	G	68562339	C	G	68562339	3	3	147	1	0	0	0	0	1	0	0	0	3836	913	32	1	1597	1	CPT1A	11	68562339	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	40045	68562339	66444177	693	23947										
MRGPRF	116535	genome.wustl.edu	37	chr11	68773105	68773105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcgccgtcgggcccggcactCcacgtgcaggatgagggcca	16	15	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68773105C>T	ENST00000309099.6	-	3	1055	c.673G>A	c.(673-675)Gag>Aag	p.E225K	MRGPRF_ENST00000441623.1_Missense_Mutation_p.E225K|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	225						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCGGCACTCCACGTGCAGG	0.647																																																	0													28	22	24					11																	68773105		2167	4243	6410	SO:0001583	missense	116535			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.673G>A	11.37:g.68773105C>T	ENSP00000309782:p.Glu225Lys		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E225K	ENST00000309099.6	37	c.673	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510272	0.64522	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.34275	1.37;1.37	5.25	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000703	T	0.29093	0.0723	L	0.42245	1.32	0.09310	N	1	P	0.38280	0.625	B	0.43658	0.426	T	0.15521	-1.0434	10	0.08179	T	0.78	-21.036	8.1354	0.31052	0.17:0.5006:0.3294:0.0	.	225	Q96AM1	MRGRF_HUMAN	K	225;225;197	ENSP00000403660:E225K;ENSP00000309782:E225K	ENSP00000309782:E225K	E	-	1	0	MRGPRF	68529681	0.000000	0.05858	0.175000	0.22980	0.992000	0.81027	0.084000	0.14891	0.603000	0.29913	0.561000	0.74099	GAG	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.647	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	C	NM_145015		68773105	-1	no_errors	ENST00000309099	ensembl	human	known	70_37	missense	SNP	0.023	T	T	68773105	C	T	68773105	3	4	147	1	0	0	0	0	1	0	0	0	9788	864	30	1	362	1	MRGPRF	11	68773105	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	210766	68773105	66233411	694	23948										
MYO7A	4647	genome.wustl.edu	37	chr11	76871234	76871234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccccagacctgatgagctGcctgactagccgcaccctca	8	19	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:76871234G>A	ENST00000409709.3	+	11	1378	c.1106G>A	c.(1105-1107)tGc>tAc	p.C369Y	MYO7A_ENST00000409619.2_Missense_Mutation_p.C358Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.C369Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.C369Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	369	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGATGAGCTGCCTGACTAGC	0.662																																																	0													25	35	32					11																	76871234		2084	4179	6263	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1106G>A	11.37:g.76871234G>A	ENSP00000386331:p.Cys369Tyr		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.C369Y	ENST00000409709.3	37	c.1106	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	24.7	4.559068	0.86335	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.11	5.11	0.69529	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.77616	2.38	0.80722	D	1	D;D;D	0.61697	0.99;0.96;0.971	P;P;P	0.62560	0.871;0.844;0.904	D	0.93850	0.7144	10	0.87932	D	0	.	18.5314	0.90993	0.0:0.0:1.0:0.0	.	369;369;369	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Y	369;369;369;358;368;368;291;368	ENSP00000386331:C369Y;ENSP00000386689:C369Y;ENSP00000392185:C369Y;ENSP00000386635:C358Y	ENSP00000345075:C291Y	C	+	2	0	MYO7A	76548882	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.816000	0.99350	2.357000	0.79964	0.586000	0.80456	TGC	MYO7A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.662	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	G	NM_000260		76871234	1	no_errors	ENST00000409709	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76871234	G	A	76871234	3	1	147	1	0	0	0	0	1	0	0	0	10105	1319	46	4	1144	4	MYO7A	11	76871234	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8098129	76871234	58135282	695	23949										
RSF1	51773	genome.wustl.edu	37	chr11	77378488	77378488	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctttcgaactgaccgctttGattctttagctagctcatca	7	11	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:77378488G>C	ENST00000308488.6	-	16	4102	c.3800C>G	c.(3799-3801)tCa>tGa	p.S1267*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.S1236*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.S1015*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1267					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGACCGCTTTGATTCTTTAGC	0.463																																																	0													65	67	66					11																	77378488		2200	4291	6491	SO:0001587	stop_gained	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3800C>G	11.37:g.77378488G>C	ENSP00000311513:p.Ser1267*		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S1267*	ENST00000308488.6	37	c.3800	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	G	47	13.307284	0.99733	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	.	.	.	5.13	5.13	0.70059	.	0.176782	0.27563	N	0.018806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-7.1759	14.0548	0.64761	0.0:0.151:0.8489:0.0	.	.	.	.	X	1267;1015;1236	.	ENSP00000311513:S1267X	S	-	2	0	RSF1	77056136	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	2.530000	0.45641	2.681000	0.91329	0.462000	0.41574	TCA	RSF1	-	NULL		0.463	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	G	NM_016578		77378488	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	77378488	G	C	77378488	4	2	147	1	0	0	0	0	0	1	0	0	13729	1294	45	1	529	1	RSF1	11	77378488	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	507254	77378488	57628028	696	23950										
SESN3	143686	genome.wustl.edu	37	chr11	94924717	94924717	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acgaccggatgtagagtattCttccacaagaaagttagtac	9	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:94924717C>G	ENST00000536441.1	-	3	529	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	SESN3_ENST00000537480.1_5'Flank|SESN3_ENST00000278499.2_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.E65Q|SESN3_ENST00000393234.1_Missense_Mutation_p.E65Q	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	65					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GTAGAGTATTCTTCCACAAGA	0.413																																																	0													157	136	143					11																	94924717		2201	4298	6499	SO:0001583	missense	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.193G>C	11.37:g.94924717C>G	ENSP00000441927:p.Glu65Gln		B7Z7P9|Q96AD1	Missense_Mutation	SNP	pfam_PA26	p.E65Q	ENST00000536441.1	37	c.193	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221434	0.58560	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495;ENST00000542176	T;T;T;T	0.40756	1.02;1.02;1.02;1.93	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68943	0.961;0.933	T	0.57075	-0.7873	10	0.33141	T	0.24	-6.3528	20.0953	0.97838	0.0:1.0:0.0:0.0	.	65;65	P58005-3;P58005	.;SESN3_HUMAN	Q	65;65;65;42	ENSP00000441927:E65Q;ENSP00000376926:E65Q;ENSP00000407008:E65Q;ENSP00000439580:E42Q	ENSP00000376926:E65Q	E	-	1	0	SESN3	94564365	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	5.315000	0.65810	2.767000	0.95098	0.655000	0.94253	GAA	SESN3	-	pfam_PA26		0.413	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	C	NM_144665		94924717	-1	no_errors	ENST00000536441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94924717	C	G	94924717	3	3	147	1	0	0	0	0	1	0	0	0	14156	922	32	1	1317	1	SESN3	11	94924717	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	17546229	94924717	40081799	697	23951										
CNTN5	53942	genome.wustl.edu	37	chr11	99690326	99690326	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcatatgctgctttgttaaGaattaagaagagttcatctt	7	5	3	3	rs202004805		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:99690326G>C	ENST00000524871.1	+	4	397	c.107G>C	c.(106-108)aGa>aCa	p.R36T	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.R36T|CNTN5_ENST00000527185.1_Missense_Mutation_p.R36T|CNTN5_ENST00000279463.3_Missense_Mutation_p.R36T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	36					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTTTGTTAAGAATTAAGAAG	0.378																																																	0													124	124	124					11																	99690326		1874	4112	5986	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.107G>C	11.37:g.99690326G>C	ENSP00000435637:p.Arg36Thr		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R36T	ENST00000524871.1	37	c.107	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820676	0.50633	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.58652	0.32;0.38;0.38;0.38	5.06	5.06	0.68205	.	0.132901	0.47093	D	0.000243	T	0.64360	0.2591	N	0.19112	0.55	0.54753	D	0.999987	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.966	T	0.69292	-0.5183	10	0.87932	D	0	.	18.2985	0.90155	0.0:0.0:1.0:0.0	.	36;36	E9PKE8;O94779	.;CNTN5_HUMAN	T	36	ENSP00000433575:R36T;ENSP00000436185:R36T;ENSP00000435637:R36T;ENSP00000279463:R36T	ENSP00000279463:R36T	R	+	2	0	CNTN5	99195536	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.670000	0.54569	2.735000	0.93741	0.650000	0.86243	AGA	CNTN5	-	NULL		0.378	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	G	NM_014361		99690326	1	no_errors	ENST00000279463	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99690326	G	C	99690326	3	2	147	1	0	0	0	0	1	0	0	0	3649	942	33	1	113	1	CNTN5	11	99690326	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4765609	99690326	35316190	698	23952										
TRPC6	7225	genome.wustl.edu	37	chr11	101353715	101353715	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taatgagcatctccatccatGagaagcaggatgttttcatc	8	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:101353715G>A	ENST00000344327.3	-	5	1899	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	TRPC6_ENST00000348423.4_Missense_Mutation_p.S376L|TRPC6_ENST00000360497.4_Missense_Mutation_p.S437L|TRPC6_ENST00000532133.1_Missense_Mutation_p.S492L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	492					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCCATCCATGAGAAGCAGGA	0.403																																					Colon(166;1315 1927 11094 12848 34731)												0													182	156	165					11																	101353715		2203	4299	6502	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1475C>T	11.37:g.101353715G>A	ENSP00000340913:p.Ser492Leu		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S492L	ENST00000344327.3	37	c.1475	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316625	0.60524	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;D;T;T	0.98345	-1.24;-4.88;-1.1;-1.37	5.78	4.85	0.62838	.	0.184373	0.46442	D	0.000292	D	0.97451	0.9166	L	0.58101	1.795	0.50313	D	0.999869	P;P;P	0.45348	0.675;0.856;0.547	B;P;B	0.46026	0.228;0.501;0.114	D	0.97069	0.9776	10	0.51188	T	0.08	-11.6659	16.6264	0.84971	0.0:0.1301:0.8699:0.0	.	437;376;492	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	L	492;492;376;437	ENSP00000340913:S492L;ENSP00000435574:S492L;ENSP00000343672:S376L;ENSP00000353687:S437L	ENSP00000340913:S492L	S	-	2	0	TRPC6	100858925	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.895000	0.87343	1.387000	0.46486	0.591000	0.81541	TCA	TRPC6	-	pfam_PKD1_2_channel,tigrfam_TRP_channel		0.403	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	G	NM_004621		101353715	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101353715	G	A	101353715	3	1	147	1	0	0	0	0	1	0	0	0	16614	1294	45	1	1356	1	TRPC6	11	101353715	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1663389	101353715	33652801	699	23953										
KIAA1377	57562	genome.wustl.edu	37	chr11	101815077	101815077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttcaacaaagaaaacagaaGtttgaagaagttactgaaaa	7	5	1	5	rs376143192		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:101815077G>A	ENST00000263468.8	+	3	600	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	110										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAAACAGAAGTTTGAAGAAG	0.358																																																	0								G		0,4406		0,0,2203	77	78	78		330	1.9	1	11		78	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	KIAA1377	NM_020802.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		110/1118	101815077	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.330G>A	11.37:g.101815077G>A			Q4G0U6	Silent	SNP	NULL	p.K110	ENST00000263468.8	37	c.330	CCDS31658.1	11																																																																																			KIAA1377	-	NULL		0.358	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	G	NM_020802		101815077	1	no_errors	ENST00000263468	ensembl	human	known	70_37	silent	SNP	0.998	A	A	101815077	G	A	101815077	2	1	147	1	0	0	0	0	0	0	0	1	8247	1020	36	4		4	KIAA1377	11	101815077	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	461362	101815077	33191439	700	23954										
CASP5	838	genome.wustl.edu	37	chr11	104871140	104871140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agattccctctaggatgccaTgagacatgagtaccaagaac	9	10	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:104871140T>C	ENST00000260315.3	-	6	799	c.800A>G	c.(799-801)cAt>cGt	p.H267R	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.H125R|CASP5_ENST00000393141.2_Missense_Mutation_p.H280R|CASP5_ENST00000526056.1_Missense_Mutation_p.H280R|CASP5_ENST00000444749.2_Missense_Mutation_p.H209R|CASP5_ENST00000531367.1_Missense_Mutation_p.H125R			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	267					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TAGGATGCCATGAGACATGAG	0.473																																																	0													139	126	130					11																	104871140		2202	4299	6501	SO:0001583	missense	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.800A>G	11.37:g.104871140T>C	ENSP00000260315:p.His267Arg		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.H280R	ENST00000260315.3	37	c.839	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311082	0.40895	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	4.21	4.21	0.49690	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	H	0.97896	4.1	0.80722	D	1	D;D;D;D	0.89917	0.996;0.997;1.0;0.993	D;P;D;D	0.91635	0.915;0.884;0.999;0.945	D	0.83501	0.0075	10	0.87932	D	0	.	11.5415	0.50669	0.0:0.0:0.0:1.0	.	125;209;267;280	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	R	280;125;267;209;280;125	ENSP00000376849:H280R;ENSP00000398130:H125R;ENSP00000260315:H267R;ENSP00000388365:H209R;ENSP00000436877:H280R;ENSP00000434471:H125R	ENSP00000260315:H267R	H	-	2	0	CASP5	104376350	1.000000	0.71417	0.995000	0.50966	0.110000	0.19582	6.413000	0.73308	1.684000	0.51022	0.172000	0.16884	CAT	CASP5	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.473	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	T	NM_004347		104871140	-1	no_errors	ENST00000393141	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104871140	T	C	104871140	3	2	147	1	0	0	0	0	1	0	0	0	2679	1464	51	5	520	5	CASP5	11	104871140	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	3056063	104871140	30135376	701	23955										
ALKBH8	91801	genome.wustl.edu	37	chr11	107393059	107393059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tattgatgccaagatactttCcattaccacatccaatatca	3	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:107393059C>T	ENST00000428149.2	-	10	1404	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	ALKBH8_ENST00000389568.3_Missense_Mutation_p.G418E|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.G421E	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	418	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAGATACTTTCCATTACCACA	0.398																																																	0													200	152	166					11																	107393059		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1253G>A	11.37:g.107393059C>T	ENSP00000415885:p.Gly418Glu		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.G421E	ENST00000428149.2	37	c.1262	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943804	0.92593	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	D;D;D	0.88975	-2.45;-2.45;-2.45	5.69	5.69	0.88448	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	H	0.99952	5.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99525	1.0959	10	0.87932	D	0	-13.4998	18.7888	0.91965	0.0:1.0:0.0:0.0	.	418;421	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	E	418;418;421	ENSP00000415885:G418E;ENSP00000374219:G418E;ENSP00000397673:G421E	ENSP00000374219:G418E	G	-	2	0	ALKBH8	106898269	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.497000	0.81536	2.689000	0.91719	0.585000	0.79938	GGA	ALKBH8	-	pfam_Methyltransf_11,pfam_Methyltransferase-rel		0.398	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	C	NM_138775		107393059	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107393059	C	T	107393059	3	4	147	1	0	0	0	0	1	0	0	0	533	855	30	1	753	1	ALKBH8	11	107393059	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2521919	107393059	27613457	702	23956										
ATM	472	genome.wustl.edu	37	chr11	108199914	108199914	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caagcaagctctcctgaaaaGagccaaagaggaagtaggtc	11	9	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:108199914G>C	ENST00000452508.2	+	50	7445	c.7256G>C	c.(7255-7257)aGa>aCa	p.R2419T	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2419T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2419	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTCCTGAAAAGAGCCAAAGAG	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													72	71	71					11																	108199914		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7256G>C	11.37:g.108199914G>C	ENSP00000388058:p.Arg2419Thr		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2419T	ENST00000452508.2	37	c.7256	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343542	0.41498	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83250	-1.7;-1.7	5.54	3.44	0.39384	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.129398	0.64402	D	0.000002	T	0.66684	0.2814	N	0.19112	0.55	0.80722	D	1	B	0.23990	0.095	B	0.24394	0.053	T	0.60321	-0.7286	10	0.35671	T	0.21	.	4.1314	0.10151	0.4813:0.0:0.5187:0.0	.	2419	Q13315	ATM_HUMAN	T	2419	ENSP00000278616:R2419T;ENSP00000388058:R2419T	ENSP00000278616:R2419T	R	+	2	0	ATM	107705124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.617000	0.61204	1.341000	0.45600	0.650000	0.86243	AGA	ATM	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108199914	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108199914	G	C	108199914	3	2	147	1	0	0	0	0	1	0	0	0	1110	942	33	1	7446	1	ATM	11	108199914	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	806855	108199914	26806602	703	23957										
ZC3H12C	85463	genome.wustl.edu	37	chr11	110008101	110008101	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acagatgatggtgaaaatctGagaccaatagttattgatgg	11	4	1	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:110008101G>C	ENST00000278590.3	+	2	786	c.735G>C	c.(733-735)ctG>ctC	p.L245L	ZC3H12C_ENST00000528673.1_Silent_p.L246L|ZC3H12C_ENST00000453089.2_Silent_p.L214L	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	245							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGAAAATCTGAGACCAATAG	0.353																																																	0													58	55	56					11																	110008101		1877	4114	5991	SO:0001819	synonymous_variant	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.735G>C	11.37:g.110008101G>C			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.L245	ENST00000278590.3	37	c.735	CCDS44727.1	11																																																																																			ZC3H12C	-	pfam_RNase_Zc3h12		0.353	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110008101	1	no_errors	ENST00000278590	ensembl	human	known	70_37	silent	SNP	0.990	C	C	110008101	G	C	110008101	2	2	147	1	0	0	0	0	0	0	0	1	17593	1277	45	1		1	ZC3H12C	11	110008101	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1808187	110008101	24998415	704	23958										
USP28	57646	genome.wustl.edu	37	chr11	113685932	113685932	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatctcactcctccatctctGaagacaggtcttaacaaaat	4	12	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:113685932G>A	ENST00000003302.4	-	14	1704	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*	USP28_ENST00000537706.1_Nonsense_Mutation_p.Q546*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q421*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q254*|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q546*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	546	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTCCATCTCTGAAGACAGGTC	0.393																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													138	129	132					11																	113685932		2201	4296	6497	SO:0001587	stop_gained	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1636C>T	11.37:g.113685932G>A	ENSP00000003302:p.Gln546*		B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.Q546*	ENST00000003302.4	37	c.1636	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.806965	0.97853	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	.	.	.	5.97	4.11	0.48088	.	0.052954	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-18.7425	12.329	0.55028	0.1359:0.0:0.8641:0.0	.	.	.	.	X	546;546;254;421;250;546	.	ENSP00000003302:Q546X	Q	-	1	0	USP28	113191142	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.016000	0.64041	1.537000	0.49254	0.585000	0.79938	CAG	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.393	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	G			113685932	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	113685932	G	A	113685932	4	1	147	1	0	0	0	0	0	1	0	0	17089	1299	45	1	1645	1	USP28	11	113685932	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3677831	113685932	21320584	705	23959										
HTR3B	9177	genome.wustl.edu	37	chr11	113813817	113813817	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccacccaactgccgagccagGattgtgttcaagaccagtgt	10	13	1	1	rs549253438		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:113813817G>C	ENST00000260191.2	+	7	1067	c.810G>C	c.(808-810)agG>agC	p.R270S	HTR3B_ENST00000537778.1_Missense_Mutation_p.R259S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	270					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCCGAGCCAGGATTGTGTTCA	0.572																																																	0													114	88	97					11																	113813817		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.810G>C	11.37:g.113813817G>C	ENSP00000260191:p.Arg270Ser		B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.R270S	ENST00000260191.2	37	c.810	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654660	0.67472	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.89681	-2.55;-2.55	5.41	4.49	0.54785	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.90145	3.09	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95595	0.8658	10	0.87932	D	0	-19.6737	13.2223	0.59894	0.0777:0.0:0.9223:0.0	.	259;270	O95264-2;O95264	.;5HT3B_HUMAN	S	270;259	ENSP00000260191:R270S;ENSP00000443118:R259S	ENSP00000260191:R270S	R	+	3	2	HTR3B	113319027	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	3.410000	0.52664	1.264000	0.44198	0.650000	0.86243	AGG	HTR3B	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113813817	1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113813817	G	C	113813817	3	2	147	1	0	0	0	0	1	0	0	0	7465	1165	41	1	836	1	HTR3B	11	113813817	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	127885	113813817	21192699	706	23960										
CEP164	22897	genome.wustl.edu	37	chr11	117265684	117265684	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accttgaaaccagagctaaaGatgtcaaggccagattggct	10	9	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:117265684G>C	ENST00000278935.3	+	22	2956	c.2809G>C	c.(2809-2811)Gat>Cat	p.D937H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	937	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CAGAGCTAAAGATGTCAAGGC	0.507																																																	0													151	153	152					11																	117265684		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2809G>C	11.37:g.117265684G>C	ENSP00000278935:p.Asp937His		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.D937H	ENST00000278935.3	37	c.2809	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208573	0.58343	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.45276	0.9	4.63	4.63	0.57726	.	0.309813	0.23187	N	0.050947	T	0.57359	0.2048	M	0.67953	2.075	0.22266	N	0.999247	D;D;D;B	0.89917	0.999;1.0;0.982;0.206	D;D;P;B	0.87578	0.995;0.998;0.891;0.124	T	0.51616	-0.8683	10	0.72032	D	0.01	-8.6206	6.2078	0.20612	0.1067:0.192:0.7013:0.0	.	911;711;937;940	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	H	937;911;818	ENSP00000278935:D937H	ENSP00000278935:D937H	D	+	1	0	CEP164	116770894	0.982000	0.34865	0.997000	0.53966	0.786000	0.44442	2.508000	0.45450	2.118000	0.64928	0.467000	0.42956	GAT	CEP164	-	NULL		0.507	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117265684	1	no_errors	ENST00000278935	ensembl	human	known	70_37	missense	SNP	0.803	C	C	117265684	G	C	117265684	3	2	147	1	0	0	0	0	1	0	0	0	3254	942	33	1	2887	1	CEP164	11	117265684	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3451867	117265684	17740832	707	23961										
MLL	4297	genome.wustl.edu	37	chr11	118362470	118362470	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttcttagatgagatgtatGagattctatctaatctgcca	7	6	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:118362470G>A	ENST00000389506.5	+	15	4822	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	KMT2A_ENST00000534358.1_Missense_Mutation_p.E1611K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1570K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1608					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGAGATGTATGAGATTCTATC	0.438																																																	0													99	93	95					11																	118362470		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4822G>A	11.37:g.118362470G>A	ENSP00000374157:p.Glu1608Lys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.E1608K	ENST00000389506.5	37	c.4822	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735361	0.89482	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	T;D;D;T	0.85013	-0.06;-1.93;-1.93;1.56	5.76	5.76	0.90799	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.987;0.999	D;D	0.83275	0.951;0.996	D	0.91844	0.5486	10	0.72032	D	0.01	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1611;1608	E9PQG7;Q03164	.;MLL1_HUMAN	K	1611;1608;1570;518;320	ENSP00000436786:E1611K;ENSP00000374157:E1608K;ENSP00000346516:E1570K;ENSP00000376612:E320K	ENSP00000346516:E1570K	E	+	1	0	MLL	117867680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	GAG	MLL	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118362470	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118362470	G	A	118362470	3	1	147	1	0	0	0	0	1	0	0	0	9643	1291	45	1	4880	1	MLL	11	118362470	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1096786	118362470	16644046	708	23962										
VPS11	55823	genome.wustl.edu	37	chr11	118938721	118938721	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagggagcctggtctttggaGatatccttcgtttggagctg	15	7	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:118938721G>C	ENST00000300793.6	+	1	229	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR|RP11-110I1.14_ENST00000607857.1_lincRNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	63					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)		GGTCTTTGGAGATATCCTTCG	0.587																																																	0													30	31	31					11																	118938721		1955	4130	6085	SO:0001630	splice_region_variant	55823			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.187+1G>C	11.37:g.118938721G>C			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.587	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		G	NM_021729	Missense_Mutation	118938721	1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	C	C	118938721	G	C	118938721	5	2	147	1	0	0	0	0	0	0	1	0	17219	956	33	1	189	1	VPS11	11	118938721	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	576251	118938721	16067795	709	23963										
SLC6A13	6540	genome.wustl.edu	37	chr12	369036	369036	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctcccccatttttgtagcaGagatagggaaacctccagac	8	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:369036G>C	ENST00000343164.4	-	2	235	c.183C>G	c.(181-183)ctC>ctG	p.L61L	RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Silent_p.L61L|SLC6A13_ENST00000436453.1_Silent_p.L61L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	61					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTTGTAGCAGAGATAGGGAA	0.572																																																	0													165	148	154					12																	369036		2203	4300	6503	SO:0001819	synonymous_variant	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.183C>G	12.37:g.369036G>C			B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.L61	ENST00000343164.4	37	c.183	CCDS8502.1	12																																																																																			SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.572	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	G	NM_016615		369036	-1	no_errors	ENST00000343164	ensembl	human	known	70_37	silent	SNP	1.000	C	C	369036	G	C	369036	2	2	147	1	0	0	0	0	0	0	0	1	14706	929	33	1		1	SLC6A13	12	369036	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		369036	133482859	710	23964										
CCDC77	84318	genome.wustl.edu	37	chr12	527686	527686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttgaatgtgatttgcagcaGagggaggaagagattgctga	15	4	0	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:527686G>C	ENST00000239830.4	+	5	476	c.297G>C	c.(295-297)caG>caC	p.Q99H	CCDC77_ENST00000422000.1_Missense_Mutation_p.Q67H|CCDC77_ENST00000412006.2_Missense_Mutation_p.Q67H|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000540180.1_Missense_Mutation_p.Q67H	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	99						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATTTGCAGCAGAGGGAGGAAG	0.428																																																	0													146	135	138					12																	527686		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.297G>C	12.37:g.527686G>C	ENSP00000239830:p.Gln99His		B4DDE8	Missense_Mutation	SNP	NULL	p.Q99H	ENST00000239830.4	37	c.297	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	g	21.4	4.137721	0.77775	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.44	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.81341	2.54	0.52501	D	0.999953	D	0.62365	0.991	P	0.60345	0.873	T	0.70033	-0.4983	10	0.72032	D	0.01	-22.0221	11.5943	0.50964	0.147:0.0:0.853:0.0	.	99	Q9BR77	CCD77_HUMAN	H	67;67;67;99;67	ENSP00000440554:Q67H;ENSP00000391870:Q67H;ENSP00000445873:Q67H;ENSP00000239830:Q99H;ENSP00000412925:Q67H	ENSP00000239830:Q99H	Q	+	3	2	CCDC77	397947	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.886000	0.63149	1.430000	0.47334	0.558000	0.71614	CAG	CCDC77	-	NULL		0.428	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		527686	1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	1.000	C	C	527686	G	C	527686	3	2	147	1	0	0	0	0	1	0	0	0	2856	933	33	1	307	1	CCDC77	12	527686	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	158650	527686	133324209	711	23965										
B4GALNT3	283358	genome.wustl.edu	37	chr12	662716	662716	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accctgtgaagaacctgcctCagatgagggggcccaggccc	13	14	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:662716C>G	ENST00000266383.5	+	14	1640	c.1627C>G	c.(1627-1629)Cag>Gag	p.Q543E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	543					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GAACCTGCCTCAGATGAGGGG	0.617																																																	0													37	41	39					12																	662716		2203	4299	6502	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1627C>G	12.37:g.662716C>G	ENSP00000266383:p.Gln543Glu		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.Q543E	ENST00000266383.5	37	c.1627	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.252095	0.01469	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.29397	3.59;1.57	5.54	3.69	0.42338	.	62.624000	0.01224	U	0.008180	T	0.22085	0.0532	N	0.25647	0.755	0.09310	N	1	B;B	0.18166	0.026;0.01	B;B	0.15870	0.014;0.004	T	0.33189	-0.9878	10	0.02654	T	1	6.1137	8.243	0.31671	0.0:0.6178:0.3012:0.081	.	446;543	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	E	543;446	ENSP00000266383:Q543E;ENSP00000322953:Q446E	ENSP00000266383:Q543E	Q	+	1	0	B4GALNT3	532977	0.002000	0.14202	0.020000	0.16555	0.007000	0.05969	1.122000	0.31295	0.673000	0.31224	0.655000	0.94253	CAG	B4GALNT3	-	NULL		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	C	NM_173593		662716	1	no_errors	ENST00000266383	ensembl	human	known	70_37	missense	SNP	0.004	G	G	662716	C	G	662716	3	3	147	1	0	0	0	0	1	0	0	0	1269	827	29	1	1681	1	B4GALNT3	12	662716	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	135030	662716	133189179	712	23966										
B4GALNT3	283358	genome.wustl.edu	37	chr12	663003	663003	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtaaactgggaccagaccttCagtgcccggaatctcgactt	10	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:663003C>T	ENST00000266383.5	+	14	1927	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	638					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCAGACCTTCAGTGCCCGGA	0.542																																																	0													136	107	117					12																	663003		2203	4300	6503	SO:0001819	synonymous_variant	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1914C>T	12.37:g.663003C>T			Q6ZNC1|Q8N7T6	Silent	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.F638	ENST00000266383.5	37	c.1914	CCDS8504.1	12																																																																																			B4GALNT3	-	NULL		0.542	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	C	NM_173593		663003	1	no_errors	ENST00000266383	ensembl	human	known	70_37	silent	SNP	1.000	T	T	663003	C	T	663003	2	4	147	1	0	0	0	0	0	0	0	1	1269	825	29	1		1	B4GALNT3	12	663003	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	287	663003	133188892	713	23967										
FGF6	2251	genome.wustl.edu	37	chr12	4554443	4554443	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggccgtcggggagcacctgGaggtgaaagccgatgcccac	16	13	0	1	rs376796208		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:4554443G>C	ENST00000228837.2	-	1	337	c.294C>G	c.(292-294)ctC>ctG	p.L98L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	98					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GGAGCACCTGGAGGTGAAAGC	0.627																																																	0													58	52	54					12																	4554443		2203	4300	6503	SO:0001819	synonymous_variant	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.294C>G	12.37:g.4554443G>C			Q0VAE1	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.L98	ENST00000228837.2	37	c.294	CCDS8527.1	12																																																																																			FGF6	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.627	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF6	HGNC	protein_coding	OTTHUMT00000398939.1	G	NM_020996		4554443	-1	no_errors	ENST00000228837	ensembl	human	known	70_37	silent	SNP	0.962	C	C	4554443	G	C	4554443	2	2	147	1	0	0	0	0	0	0	0	1	5874	1161	41	1		1	FGF6	12	4554443	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3891440	4554443	129297452	714	23968										
ANO2	57101	genome.wustl.edu	37	chr12	5672735	5672735	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcaggaacatcacgaggttCtgcaaaaagccaaggagaga	11	9	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:5672735C>G	ENST00000356134.5	-	27	2802		c.e27-1		ANO2_ENST00000546188.1_Splice_Site|ANO2_ENST00000327087.8_Splice_Site	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCACGAGGTTCTGCAAAAAGC	0.562																																																	0													76	71	73					12																	5672735		1970	4175	6145	SO:0001630	splice_region_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2731-1G>C	12.37:g.5672735C>G			C4N787|Q9H847	Splice_Site	SNP	-	e27-1	ENST00000356134.5	37	c.2731-1		12	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277435	0.59758	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1807	0.86854	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANO2	5542996	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	7.770000	0.85390	2.369000	0.80426	0.555000	0.69702	.	ANO2	-	-		0.562	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	C	NM_020373	Intron	5672735	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	5672735	C	G	5672735	5	3	147	1	0	0	0	0	0	0	1	0	697	927	32	1	273	1	ANO2	12	5672735	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1118292	5672735	128179160	715	23969										
CHD4	1108	genome.wustl.edu	37	chr12	6687669	6687669	+	Silent	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccttgggggtctctccattCtgaagcatcacctctttttt							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6687669C>T	ENST00000357008.2	-	35	5188	c.5025G>A	c.(5023-5025)caG>caA	p.Q1675Q	CHD4_ENST00000309577.6_Silent_p.Q1703Q|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544484.1_Silent_p.Q1700Q|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.Q1668Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1675	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTCTCCATTCTGAAGCATCA	0.418																																					Colon(32;586 792 4568 16848 45314)												0													90	89	89					12																	6687669		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5025G>A	12.37:g.6687669C>T			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1703	ENST00000357008.2	37	c.5109	CCDS8552.1	12																																																																																			CHD4	-	NULL		0.418	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6687669	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6687669	C	T	6687669	2	4	147	1	0	0	0	0	0	0	0	1	3332	912	32	1		1	CHD4	12	6687669	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1014934	6687669	127164226	716	23970	134	2								
CHD4	1108	genome.wustl.edu	37	chr12	6687678	6687678	+	Silent	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtctctccattctgaagcatCacctcttttttctcttcttc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6687678C>T	ENST00000357008.2	-	35	5179	c.5016G>A	c.(5014-5016)gtG>gtA	p.V1672V	CHD4_ENST00000309577.6_Silent_p.V1700V|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.V1697V|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Silent_p.V1665V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1672	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTGAAGCATCACCTCTTTTT	0.413																																					Colon(32;586 792 4568 16848 45314)												0													83	82	82					12																	6687678		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5016G>A	12.37:g.6687678C>T			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1700	ENST00000357008.2	37	c.5100	CCDS8552.1	12																																																																																			CHD4	-	NULL		0.413	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6687678	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	0.980	T	T	6687678	C	T	6687678	2	4	147	1	0	0	0	0	0	0	0	1	3332	813	29	1		1	CHD4	12	6687678	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9	6687678	127164217	717	23971	134	2								
TPI1	7167	genome.wustl.edu	37	chr12	6976718	6976718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacactgaccttcagcgcctCggctccagcgccatggcgcc	11	18	1	1	rs375712848		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6976718C>T	ENST00000229270.4	+	1	436	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	33					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCAGCGCCTCGGCTCCAGCG	0.642																																																	0								C	,	1,4387		0,1,2193	12	16	14		,99	-0.5	0	12		14	0,8590		0,0,4295	no	utr-5,coding-synonymous	TPI1	NM_000365.5,NM_001159287.1	,	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	,	,33/287	6976718	1,12977	2194	4295	6489	SO:0001819	synonymous_variant	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.99C>T	12.37:g.6976718C>T			B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase	p.L33	ENST00000229270.4	37	c.99	CCDS53740.1	12																																																																																			TPI1	-	NULL		0.642	TPI1-001	KNOWN	basic|CCDS	protein_coding	TPI1	HGNC	protein_coding	OTTHUMT00000258252.1	C	NM_000365		6976718	1	no_errors	ENST00000229270	ensembl	human	known	70_37	silent	SNP	0.000	T	T	6976718	C	T	6976718	2	4	147	1	0	0	0	0	0	0	0	1	16434	871	31	1		1	TPI1	12	6976718	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	289040	6976718	126875177	718	23972										
PHB2	11331	genome.wustl.edu	37	chr12	7077636	7077636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caccacactcttgagcacctCgttgacaatggacggcaaca	8	14	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7077636C>G	ENST00000535923.1	-	4	696	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	SCARNA12_ENST00000459155.1_RNA|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000440277.1_Missense_Mutation_p.E139Q|PHB2_ENST00000399433.2_Missense_Mutation_p.E139Q|PHB2_ENST00000542912.1_Missense_Mutation_p.E139Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						TTGAGCACCTCGTTGACAATG	0.582																																																	0													90	90	90					12																	7077636		2123	4235	6358	SO:0001583	missense	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.415G>C	12.37:g.7077636C>G	ENSP00000441875:p.Glu139Gln			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.E139Q	ENST00000535923.1	37	c.415	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827401	0.90955	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	5.31	4.42	0.53409	.	0.000000	0.85682	U	0.000000	D	0.98289	0.9433	H	0.97806	4.08	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99260	1.0890	10	0.87932	D	0	-20.0699	14.1082	0.65104	0.0:0.9275:0.0:0.0725	.	139;139;139	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	Q	139;139;139;139;175;150	ENSP00000441875:E139Q;ENSP00000440317:E139Q;ENSP00000382362:E139Q;ENSP00000412856:E139Q;ENSP00000441662:E175Q;ENSP00000439029:E150Q	ENSP00000382362:E139Q	E	-	1	0	PHB2	6947897	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.776000	0.85560	1.376000	0.46267	0.655000	0.94253	GAG	PHB2	-	pfam_Band_7,smart_Band_7,prints_Prohibitin		0.582	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	C	NM_007273		7077636	-1	no_errors	ENST00000399433	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7077636	C	G	7077636	3	3	147	1	0	0	0	0	1	0	0	0	11839	893	31	1	508	1	PHB2	12	7077636	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	100918	7077636	126774259	719	23973										
CLSTN3	9746	genome.wustl.edu	37	chr12	7290643	7290643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agagtgcccgcccagtcaagTtcctctggaagctggagcag	13	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7290643T>C	ENST00000266546.6	+	8	1753	c.1303T>C	c.(1303-1305)Ttc>Ctc	p.F435L	CLSTN3_ENST00000537408.1_Missense_Mutation_p.F447L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	435					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCAGTCAAGTTCCTCTGGAA	0.587																																																	0													70	62	65					12																	7290643		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1303T>C	12.37:g.7290643T>C	ENSP00000266546:p.Phe435Leu		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F435L	ENST00000266546.6	37	c.1303	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	T	34	5.362167	0.95877	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.73047	-0.71;-0.71	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.979;0.999	D;D	0.79784	0.982;0.993	D	0.84516	0.0625	10	0.87932	D	0	-31.7766	14.7878	0.69816	0.0:0.0:0.0:1.0	.	447;435	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	L	435;447	ENSP00000266546:F435L;ENSP00000440679:F447L	ENSP00000266546:F435L	F	+	1	0	CLSTN3	7181910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.849000	0.86908	2.080000	0.62538	0.379000	0.24179	TTC	CLSTN3	-	superfamily_ConA-like_lec_gl_sf		0.587	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	T	NM_014718		7290643	1	no_errors	ENST00000266546	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7290643	T	C	7290643	3	2	147	1	0	0	0	0	1	0	0	0	3568	1725	60	5	1333	5	CLSTN3	12	7290643	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	213007	7290643	126561252	720	23974										
PEX5	5830	genome.wustl.edu	37	chr12	7361104	7361104	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcactgatggcgctggctgtGagcttcaccaacgagtccct	12	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7361104G>C	ENST00000455147.2	+	14	1813	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	PEX5_ENST00000266564.3_Silent_p.V403V|PEX5_ENST00000266563.5_Silent_p.V374V|PEX5_ENST00000412720.2_Silent_p.V432V|PEX5_ENST00000420616.2_Silent_p.V411V|PEX5_ENST00000434354.2_Silent_p.V426V	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	411					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CGCTGGCTGTGAGCTTCACCA	0.552																																																	0													60	54	56					12																	7361104		2203	4300	6503	SO:0001819	synonymous_variant	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1233G>C	12.37:g.7361104G>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V426	ENST00000455147.2	37	c.1278	CCDS44823.1	12																																																																																			PEX5	-	pfscan_TPR-contain_dom		0.552	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	G	NM_000319		7361104	1	no_errors	ENST00000434354	ensembl	human	known	70_37	silent	SNP	0.327	C	C	7361104	G	C	7361104	2	2	147	1	0	0	0	0	0	0	0	1	11772	1277	45	1		1	PEX5	12	7361104	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	70461	7361104	126490791	721	23975										
KLRD1	3824	genome.wustl.edu	37	chr12	10464146	10464146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagtgaacagaaaacttggAacgaaagtcggcatctctgt	10	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:10464146A>G	ENST00000381907.4	+	5	449	c.247A>G	c.(247-249)Aac>Gac	p.N83D	KLRD1_ENST00000543420.1_Missense_Mutation_p.N83D|KLRD1_ENST00000381908.3_Missense_Mutation_p.N83D|KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000543777.1_Missense_Mutation_p.N62D|KLRD1_ENST00000350274.5_Missense_Mutation_p.N52D|KLRD1_ENST00000336164.4_Missense_Mutation_p.N83D	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAAAACTTGGAACGAAAGTCG	0.428																																																	0													115	105	108					12																	10464146		2203	4300	6503	SO:0001583	missense	3824			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.247A>G	12.37:g.10464146A>G	ENSP00000371332:p.Asn83Asp		O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.N83D	ENST00000381907.4	37	c.247	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601197	0.28534	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	T;T;T;T;T;T;T	0.40756	2.26;2.26;2.26;2.26;2.26;1.02;2.26	5.77	-7.66	0.01277	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.615510	0.01023	N	0.004000	T	0.33000	0.0848	L	0.39085	1.19	0.09310	N	1	B;B;B;B	0.25312	0.012;0.012;0.123;0.058	B;B;B;B	0.20384	0.01;0.01;0.017;0.029	T	0.21143	-1.0254	10	0.13853	T	0.58	.	17.6305	0.88106	0.8879:0.0:0.1121:0.0	.	62;83;52;83	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	D	52;83;83;83;52;83;62	ENSP00000438669:N52D;ENSP00000371332:N83D;ENSP00000371333:N83D;ENSP00000338130:N83D;ENSP00000310929:N52D;ENSP00000441074:N83D;ENSP00000443584:N62D	ENSP00000338130:N83D	N	+	1	0	KLRD1	10355413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.724000	0.00809	-1.377000	0.02123	-0.912000	0.02778	AAC	KLRD1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.428	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	A	NM_002262		10464146	1	no_errors	ENST00000381908	ensembl	human	known	70_37	missense	SNP	0.001	G	G	10464146	A	G	10464146	3	3	147	1	0	0	0	0	1	0	0	0	8439	246	9	5	261	5	KLRD1	12	10464146	Missense_Mutation	SNP	A	TCGA-IR-A3LA-01A-11D-A22X-09	3103042	10464146	123387749	722	23976										
ETV6	2120	genome.wustl.edu	37	chr12	11905486	11905486	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagcgctcaggatggaggaaGactcgatccgcctgcctgcg	15	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:11905486G>C	ENST00000396373.4	+	2	410	c.136G>C	c.(136-138)Gac>Cac	p.D46H	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	46	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GATGGAGGAAGACTCGATCCG	0.617			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	0													59	55	56					12																	11905486		2203	4300	6503	SO:0001583	missense	2120			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.136G>C	12.37:g.11905486G>C	ENSP00000379658:p.Asp46His		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.D46H	ENST00000396373.4	37	c.136	CCDS8643.1	12	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910541	0.92107	.	.	ENSG00000139083	ENST00000396373;ENST00000545027	T;T	0.31769	1.48;1.48	5.73	5.73	0.89815	Sterile alpha motif/pointed domain (1);Pointed domain (3);	0.219536	0.48286	D	0.000192	T	0.37100	0.0991	L	0.42245	1.32	0.51767	D	0.999937	P	0.46142	0.873	P	0.49140	0.601	T	0.01966	-1.1238	10	0.14252	T	0.57	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	46	P41212	ETV6_HUMAN	H	46;18	ENSP00000379658:D46H;ENSP00000441463:D18H	ENSP00000379658:D46H	D	+	1	0	ETV6	11796753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.746000	0.74866	2.708000	0.92522	0.655000	0.94253	GAC	ETV6	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.617	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	G	NM_001987		11905486	1	no_errors	ENST00000396373	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11905486	G	C	11905486	3	2	147	1	0	0	0	0	1	0	0	0	5295	942	33	1	142	1	ETV6	12	11905486	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1441340	11905486	121946409	723	23977										
DUSP16	80824	genome.wustl.edu	37	chr12	12672925	12672925	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacaaccttctgactgcaatCaatgtcaacctgaaatgcaa	5	11	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:12672925C>G	ENST00000228862.2	-	3	869	c.238G>C	c.(238-240)Gat>Cat	p.D80H	DUSP16_ENST00000298573.4_Missense_Mutation_p.D80H	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	80	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGACTGCAATCAATGTCAACC	0.423																																					Ovarian(158;443 1896 15437 36069 46477)												0													111	99	103					12																	12672925		2203	4300	6503	SO:0001583	missense	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.238G>C	12.37:g.12672925C>G	ENSP00000228862:p.Asp80His		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.D80H	ENST00000228862.2	37	c.238	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885957	0.51908	.	.	ENSG00000111266	ENST00000228862;ENST00000298573	T;T	0.29397	1.57;1.57	5.75	5.75	0.90469	Rhodanese-like (5);	0.137530	0.49305	D	0.000146	T	0.33381	0.0861	L	0.36672	1.1	0.52099	D	0.99994	B	0.29508	0.246	B	0.35550	0.205	T	0.07462	-1.0771	10	0.52906	T	0.07	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	80	Q9BY84	DUS16_HUMAN	H	80	ENSP00000228862:D80H;ENSP00000298573:D80H	ENSP00000228862:D80H	D	-	1	0	DUSP16	12564192	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.183000	0.65065	2.716000	0.92895	0.655000	0.94253	GAT	DUSP16	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.423	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	C	NM_030640		12672925	-1	no_errors	ENST00000228862	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12672925	C	G	12672925	3	3	147	1	0	0	0	0	1	0	0	0	4826	826	29	1	1779	1	DUSP16	12	12672925	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	767439	12672925	121178970	724	23978										
PIK3C2G	5288	genome.wustl.edu	37	chr12	18715808	18715808	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agagcaacaattttagggttCagcaagaaatccagtaatgt	9	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:18715808C>T	ENST00000266497.5	+	25	3677	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F	PIK3C2G_ENST00000433979.1_Silent_p.F1213F|PIK3C2G_ENST00000538779.1_Silent_p.F1254F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1213	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTTAGGGTTCAGCAAGAAAT	0.408																																																	0													108	105	106					12																	18715808		1859	4105	5964	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3639C>T	12.37:g.18715808C>T			A1L3U0	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.F1254	ENST00000266497.5	37	c.3762	CCDS44839.1	12																																																																																			PIK3C2G	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	C	NM_004570		18715808	1	no_errors	ENST00000538779	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18715808	C	T	18715808	2	4	147	1	0	0	0	0	0	0	0	1	11935	825	29	1		1	PIK3C2G	12	18715808	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6042883	18715808	115136087	725	23979										
C12orf77	196415	genome.wustl.edu	37	chr12	25149177	25149177	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtcagacgggcaatatggtCtagtggatccagaatttgaa	12	6	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:25149177C>G	ENST00000549828.1	-	2	304	c.100G>C	c.(100-102)Gac>Cac	p.D34H	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	34										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GCAATATGGTCTAGTGGATCC	0.433																																																	0													149	144	145					12																	25149177		1942	4141	6083	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.100G>C	12.37:g.25149177C>G	ENSP00000447146:p.Asp34His			Missense_Mutation	SNP	NULL	p.D34H	ENST00000549828.1	37	c.100	CCDS44846.1	12	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529808	0.27387	.	.	ENSG00000226397	ENST00000549828	T	0.57273	0.41	4.85	4.85	0.62838	.	.	.	.	.	T	0.53158	0.1779	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62746	-0.6789	9	0.87932	D	0	.	14.2138	0.65781	0.0:1.0:0.0:0.0	.	34	C9JDV5	CL097_HUMAN	H	34	ENSP00000447146:D34H	ENSP00000447146:D34H	D	-	1	0	C12orf77	25040444	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	1.734000	0.38166	2.624000	0.88883	0.655000	0.94253	GAC	C12orf77	-	NULL		0.433	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf77	HGNC	protein_coding	OTTHUMT00000407827.1	C	NM_001101339		25149177	-1	no_errors	ENST00000549828	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25149177	C	G	25149177	3	3	147	1	0	0	0	0	1	0	0	0	1720	913	32	1	349	1	C12orf77	12	25149177	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6433369	25149177	108702718	726	23980										
SYT10	341359	genome.wustl.edu	37	chr12	33559988	33559988	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctggaagaagatacatcttCacataagggtcagaagttcc	9	8	4	3	rs377568629		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:33559988C>T	ENST00000228567.3	-	3	1109	c.813G>A	c.(811-813)gtG>gtA	p.V271V	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_Silent_p.V90V|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	271	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GATACATCTTCACATAAGGGT	0.358																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	63	63	63		813	3	1	12		63	0,8600		0,0,4300	no	coding-synonymous	SYT10	NM_198992.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/524	33559988	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.813G>A	12.37:g.33559988C>T			Q495U2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V271	ENST00000228567.3	37	c.813	CCDS8732.1	12																																																																																			SYT10	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom		0.358	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	C	NM_198992		33559988	-1	no_errors	ENST00000228567	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33559988	C	T	33559988	2	4	147	1	0	0	0	0	0	0	0	1	15496	813	29	1		1	SYT10	12	33559988	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8410811	33559988	100291907	727	23981										
KIF21A	55605	genome.wustl.edu	37	chr12	39730978	39730978	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagtctggctttctcttgttCttctttcatttgtttcatta	5	9	6	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:39730978C>T	ENST00000361418.5	-	17	2353	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	KIF21A_ENST00000544797.2_Missense_Mutation_p.E767K|KIF21A_ENST00000395670.3_Missense_Mutation_p.E780K|KIF21A_ENST00000541463.2_Missense_Mutation_p.E767K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E767K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	780					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTCTTGTTCTTCTTTCATT	0.348																																																	0													165	148	154					12																	39730978		2203	4298	6501	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2338G>A	12.37:g.39730978C>T	ENSP00000354878:p.Glu780Lys		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E780K	ENST00000361418.5	37	c.2338	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017021	0.93404	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000058	T	0.44582	0.1300	M	0.76574	2.34	0.50467	D	0.999871	P;D;P;D;D	0.71674	0.587;0.974;0.85;0.998;0.965	B;D;P;D;P	0.78314	0.225;0.969;0.507;0.991;0.672	T	0.41858	-0.9485	10	0.87932	D	0	.	18.0809	0.89441	0.0:1.0:0.0:0.0	.	767;767;780;767;780	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	K	767;780;780;767;780;767	ENSP00000354851:E767K;ENSP00000379029:E780K;ENSP00000445606:E767K;ENSP00000354878:E780K;ENSP00000438075:E767K	ENSP00000344501:E780K	E	-	1	0	KIF21A	38017245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.374000	0.59543	2.512000	0.84698	0.650000	0.86243	GAA	KIF21A	-	NULL		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	C	NM_017641		39730978	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39730978	C	T	39730978	3	4	147	1	0	0	0	0	1	0	0	0	8308	922	32	1	2774	1	KIF21A	12	39730978	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6170990	39730978	94120917	728	23982										
ANO6	196527	genome.wustl.edu	37	chr12	45725135	45725135	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgatggccagcgaagaattGactttgttctagtatatgag	11	5	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:45725135G>C	ENST00000320560.8	+	3	410	c.208G>C	c.(208-210)Gac>Cac	p.D70H	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.D70H|ANO6_ENST00000425752.2_Missense_Mutation_p.D70H|ANO6_ENST00000423947.3_Missense_Mutation_p.D91H|ANO6_ENST00000441606.2_Missense_Mutation_p.D52H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	70					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCGAAGAATTGACTTTGTTCT	0.299																																																	0													71	76	74					12																	45725135		2203	4299	6502	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.208G>C	12.37:g.45725135G>C	ENSP00000320087:p.Asp70His		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.D70H	ENST00000320560.8	37	c.208	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388491	0.82902	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.89217	0.3568	10	0.87932	D	0	.	18.3196	0.90232	0.0:0.0:1.0:0.0	.	52;91;70;70	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	70;91;70;70;52	ENSP00000391417:D70H;ENSP00000409126:D91H;ENSP00000413840:D70H;ENSP00000320087:D70H;ENSP00000413137:D52H	ENSP00000320087:D70H	D	+	1	0	ANO6	44011402	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.638000	0.83328	2.793000	0.96121	0.591000	0.81541	GAC	ANO6	-	NULL		0.299	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	G	XM_113743		45725135	1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45725135	G	C	45725135	3	2	147	1	0	0	0	0	1	0	0	0	701	1290	45	1	238	1	ANO6	12	45725135	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5994157	45725135	88126760	729	23983										
ENDOU	8909	genome.wustl.edu	37	chr12	48107060	48107060	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caagaaaagtgctcccacctGagaagacatgttcaaagcca	8	11	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:48107060G>C	ENST00000422538.3	-	7	985	c.863C>G	c.(862-864)tCa>tGa	p.S288*	ENDOU_ENST00000542202.1_Nonsense_Mutation_p.S54*|ENDOU_ENST00000229003.3_Nonsense_Mutation_p.S247*|ENDOU_ENST00000545824.2_Nonsense_Mutation_p.S225*|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	288					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GCTCCCACCTGAGAAGACATG	0.493																																																	0													151	140	144					12																	48107060		2203	4300	6503	SO:0001587	stop_gained	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.863C>G	12.37:g.48107060G>C	ENSP00000397679:p.Ser288*		B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Nonsense_Mutation	SNP	pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S247*	ENST00000422538.3	37	c.740	CCDS53785.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.025651	0.97216	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000542202;ENST00000545824	.	.	.	5.91	5.02	0.67125	.	0.331247	0.32593	N	0.005894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-21.1691	12.3962	0.55386	0.0783:0.0:0.9217:0.0	.	.	.	.	X	247;288;54;225	.	ENSP00000229003:S247X	S	-	2	0	ENDOU	46393327	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.126000	0.57937	1.511000	0.48818	0.655000	0.94253	TCA	ENDOU	-	pfam_Endoribonuclease_XendoU		0.493	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENDOU	HGNC	protein_coding	OTTHUMT00000405352.1	G	NM_006025.2		48107060	-1	no_errors	ENST00000229003	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	48107060	G	C	48107060	4	2	147	1	0	0	0	0	0	1	0	0	5128	1294	45	1	385	1	ENDOU	12	48107060	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2381925	48107060	85744835	730	23984										
TROAP	10024	genome.wustl.edu	37	chr12	49721039	49721039	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggttgtcactcactcagatGaaggaggtgtggcctctctt	12	9	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:49721039G>A	ENST00000257909.3	+	8	893	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	TROAP_ENST00000551245.1_Missense_Mutation_p.E273K|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'UTR	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	273					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCACTCAGATGAAGGAGGTGT	0.488																																																	0													136	119	125					12																	49721039		2203	4300	6503	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.817G>A	12.37:g.49721039G>A	ENSP00000257909:p.Glu273Lys		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.E273K	ENST00000257909.3	37	c.817	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099806	0.76983	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.13	4.13	0.48395	.	0.335796	0.25372	N	0.031144	T	0.46927	0.1418	L	0.42245	1.32	0.80722	D	1	B;B	0.30851	0.297;0.129	B;B	0.27262	0.078;0.046	T	0.48328	-0.9045	9	0.54805	T	0.06	-0.9897	9.892	0.41296	0.106:0.0:0.894:0.0	.	273;273	F8W130;Q12815	.;TROAP_HUMAN	K	273;156;273;267	.	ENSP00000257909:E273K	E	+	1	0	TROAP	48007306	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.862000	0.39448	1.316000	0.45131	0.655000	0.94253	GAA	TROAP	-	NULL		0.488	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	G	NM_005480		49721039	1	no_errors	ENST00000257909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49721039	G	A	49721039	3	1	147	1	0	0	0	0	1	0	0	0	16606	1291	45	1	945	1	TROAP	12	49721039	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1613979	49721039	84130856	731	23985										
KRT7	3855	genome.wustl.edu	37	chr12	52627214	52627214	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctctacggcctcggcgcctCacggccgcgcgtggccgtgc	14	19	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:52627214C>G	ENST00000331817.5	+	1	317	c.134C>G	c.(133-135)tCa>tGa	p.S45*		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	45	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CTCGGCGCCTCACGGCCGCGC	0.766																																																	0													4	6	5					12																	52627214		1688	3537	5225	SO:0001587	stop_gained	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.134C>G	12.37:g.52627214C>G	ENSP00000329243:p.Ser45*		Q92676|Q9BUD8|Q9Y3R7	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II	p.S45*	ENST00000331817.5	37	c.134	CCDS8822.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584130	0.86748	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	.	.	.	4.48	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.1642	0.72807	0.0:0.8584:0.1416:0.0	.	.	.	.	X	45	.	ENSP00000329243:S45X	S	+	2	0	KRT7	50913481	0.004000	0.15560	0.258000	0.24420	0.584000	0.36387	0.640000	0.24705	2.502000	0.84385	0.457000	0.33378	TCA	KRT7	-	NULL		0.766	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT7	HGNC	protein_coding	OTTHUMT00000404897.1	C	NM_005556		52627214	1	no_errors	ENST00000331817	ensembl	human	known	70_37	nonsense	SNP	0.145	G	G	52627214	C	G	52627214	4	3	147	1	0	0	0	0	0	1	0	0	8503	838	29	1	136	1	KRT7	12	52627214	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2906175	52627214	81224681	732	23986										
KRT85	3891	genome.wustl.edu	37	chr12	52758934	52758934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttggtctccagcagcttgttCtgctgctccaggaagcgcac	11	13	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:52758934C>G	ENST00000257901.3	-	2	516	c.441G>C	c.(439-441)caG>caC	p.Q147H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	147	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.Q147H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGCTTGTTCTGCTGCTCCA	0.612																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											37	36	36					12																	52758934		2203	4300	6503	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.441G>C	12.37:g.52758934C>G	ENSP00000257901:p.Gln147His		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.Q147H	ENST00000257901.3	37	c.441	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780397	0.70222	.	.	ENSG00000135443	ENST00000257901	D	0.90133	-2.62	4.21	4.21	0.49690	Filament (1);	0.000000	0.56097	D	0.000030	D	0.94804	0.8322	M	0.88310	2.945	0.80722	D	1	P	0.51057	0.941	P	0.60286	0.872	D	0.95247	0.8356	10	0.87932	D	0	.	11.6914	0.51519	0.0:0.9133:0.0:0.0867	.	147	P78386	KRT85_HUMAN	H	147	ENSP00000257901:Q147H	ENSP00000257901:Q147H	Q	-	3	2	KRT85	51045201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.989000	0.40707	2.335000	0.79485	0.491000	0.48974	CAG	KRT85	-	pfam_F		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	C	NM_002283		52758934	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52758934	C	G	52758934	3	3	147	1	0	0	0	0	1	0	0	0	8519	912	32	1	1114	1	KRT85	12	52758934	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	131720	52758934	81092961	733	23987										
CSAD	51380	genome.wustl.edu	37	chr12	53553493	53553493	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaacacacattgacaaactCaggctgagaggaatgagaaa	10	7	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:53553493C>A	ENST00000444623.1	-	16	1489	c.1222G>T	c.(1222-1224)Gag>Tag	p.E408*	CSAD_ENST00000453446.2_Nonsense_Mutation_p.E408*|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000267085.4_Nonsense_Mutation_p.E435*|CSAD_ENST00000379846.1_Nonsense_Mutation_p.E261*|CSAD_ENST00000379843.3_Nonsense_Mutation_p.E261*	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	408					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TTGACAAACTCAGGCTGAGAG	0.562											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)												0													96	85	88					12																	53553493		2203	4300	6503	SO:0001587	stop_gained	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1222G>T	12.37:g.53553493C>A	ENSP00000415485:p.Glu408*	993	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Nonsense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E435*	ENST00000444623.1	37	c.1303	CCDS58235.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.474732|7.474732	0.98306|0.98306	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446|ENST00000379850	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.165668|.	0.51477|.	D|.	0.000086|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	-34.8851|-34.8851	16.8743|16.8743	0.86047|0.86047	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	497;261;435;261;408;369;408|433	.|.	ENSP00000267085:E435X|.	E|X	-|-	1|2	0|2	CSAD|CSAD	51839760|51839760	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.849000|0.849000	0.48306|0.48306	4.146000|4.146000	0.58072|0.58072	2.591000|2.591000	0.87537|0.87537	0.561000|0.561000	0.74099|0.74099	GAG|TGA	CSAD	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.562	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	C	NM_015989		53553493	-1	no_errors	ENST00000267085	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	53553493	C	A	53553493	4	1	147	1	0	0	0	0	0	1	0	0	3930	835	29	3	267	3	CSAD	12	53553493	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	794559	53553493	80298402	734	23988										
ESPL1	9700	genome.wustl.edu	37	chr12	53673569	53673569	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggattgtctctgagagactGaaggaccactcgaaggcagc	13	10	1	3	rs567728499		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:53673569G>A	ENST00000257934.4	+	12	2509	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	ESPL1_ENST00000552462.1_Silent_p.L806L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	806					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGAGAGACTGAAGGACCACT	0.612																																					Colon(53;1069 1201 2587 5382)												0													106	100	102					12																	53673569		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2418G>A	12.37:g.53673569G>A				Silent	SNP	pfam_Peptidase_C50	p.L806	ENST00000257934.4	37	c.2418	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	G	NM_012291		53673569	1	no_errors	ENST00000257934	ensembl	human	known	70_37	silent	SNP	0.004	A	A	53673569	G	A	53673569	2	1	147	1	0	0	0	0	0	0	0	1	5265	1277	45	1		1	ESPL1	12	53673569	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	120076	53673569	80178326	735	23989										
ITGA7	3679	genome.wustl.edu	37	chr12	56090710	56090710	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggaacatggcgtctccacaGactcggtcatgctggtgctt	12	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56090710G>A	ENST00000555728.1	-	13	1870	c.1842C>T	c.(1840-1842)gtC>gtT	p.V614V	ITGA7_ENST00000452168.2_Silent_p.V477V|ITGA7_ENST00000394229.2_Silent_p.V570V|ITGA7_ENST00000553804.1_Silent_p.V574V|ITGA7_ENST00000394230.2_Silent_p.V574V|ITGA7_ENST00000347027.6_Silent_p.V564V|ITGA7_ENST00000257879.6_Silent_p.V570V|ITGA7_ENST00000257880.7_Silent_p.V614V			Q13683	ITA7_HUMAN	integrin, alpha 7	614					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGTCTCCACAGACTCGGTCAT	0.587																																																	0													81	72	75					12																	56090710		2203	4300	6503	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1842C>T	12.37:g.56090710G>A			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V614	ENST00000555728.1	37	c.1842		12																																																																																			ITGA7	-	pfam_Integrin_alpha-2		0.587	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56090710	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56090710	G	A	56090710	2	1	147	1	0	0	0	0	0	0	0	1	7901	929	33	1		1	ITGA7	12	56090710	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2417141	56090710	77761185	736	23990										
ESYT1	23344	genome.wustl.edu	37	chr12	56527950	56527950	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caactgtcaattcaggatgtGactcaggagagcaaggtgag	13	7	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56527950G>A	ENST00000394048.5	+	14	1794	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V	ESYT1_ENST00000267113.4_Silent_p.V520V|ESYT1_ENST00000541590.1_Silent_p.V520V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	510	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TTCAGGATGTGACTCAGGAGA	0.527																																																	0													106	90	95					12																	56527950		2203	4300	6503	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1530G>A	12.37:g.56527950G>A			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.V520	ENST00000394048.5	37	c.1560	CCDS8904.1	12																																																																																			ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.527	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	G	NM_015292		56527950	1	no_errors	ENST00000267113	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56527950	G	A	56527950	2	1	147	1	0	0	0	0	0	0	0	1	5276	1277	45	1		1	ESYT1	12	56527950	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	437240	56527950	77323945	737	23991										
ESYT1	23344	genome.wustl.edu	37	chr12	56528198	56528198	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacaagaccctcaaagccagGagctcgatgtgcaagtgaga	11	10	1	2	rs368155629		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56528198G>T	ENST00000394048.5	+	15	1882	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	ESYT1_ENST00000267113.4_Nonsense_Mutation_p.E550*|ESYT1_ENST00000541590.1_Nonsense_Mutation_p.E550*	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	540	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCAAAGCCAGGAGCTCGATGT	0.507																																																	0													147	127	134					12																	56528198		2203	4300	6503	SO:0001587	stop_gained	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1618G>T	12.37:g.56528198G>T	ENSP00000377612:p.Glu540*		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.E550*	ENST00000394048.5	37	c.1648	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.909780	0.97093	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	.	.	.	5.28	5.28	0.74379	.	0.046847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8273	16.2109	0.82158	0.0:0.0:1.0:0.0	.	.	.	.	X	540;494;550;550	.	ENSP00000267113:E550X	E	+	1	0	ESYT1	54814465	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	4.784000	0.62411	2.633000	0.89246	0.655000	0.94253	GAG	ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.507	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	G	NM_015292		56528198	1	no_errors	ENST00000267113	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	56528198	G	T	56528198	4	4	147	1	0	0	0	0	0	1	0	0	5276	1175	41	3	1706	3	ESYT1	12	56528198	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	248	56528198	77323697	738	23992										
SMARCC2	6601	genome.wustl.edu	37	chr12	56572822	56572822	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttgactggggccgactctGagtctttctttgtgttgact	11	9	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56572822G>C	ENST00000267064.4	-	12	1186	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.S367*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.S367*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.S367*|SMARCC2_ENST00000550859.1_5'Flank|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	367					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGCCGACTCTGAGTCTTTCTT	0.498																																																	0													81	81	81					12																	56572822		2203	4300	6503	SO:0001587	stop_gained	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1100C>G	12.37:g.56572822G>C	ENSP00000267064:p.Ser367*		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.S367*	ENST00000267064.4	37	c.1100	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.361823	0.97507	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-8.46	16.9116	0.86141	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000267064:S367X	S	-	2	0	SMARCC2	54859089	0.995000	0.38212	0.981000	0.43875	0.998000	0.95712	2.240000	0.43088	2.606000	0.88127	0.650000	0.86243	TCA	SMARCC2	-	superfamily_Chromodomain-like		0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	G			56572822	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	nonsense	SNP	0.999	C	C	56572822	G	C	56572822	4	2	147	1	0	0	0	0	0	1	0	0	14806	1294	45	1	2709	1	SMARCC2	12	56572822	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	44624	56572822	77279073	739	23993										
APOF	319	genome.wustl.edu	37	chr12	56755476	56755476	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcttgctccttctcattctCacagtcctctgtcgggaggg	10	13	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56755476C>G	ENST00000398189.3	-	2	591	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.E154Q	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	172					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						TTCTCATTCTCACAGTCCTCT	0.557																																																	0													36	36	36					12																	56755476		2037	4184	6221	SO:0001583	missense	319			L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.514G>C	12.37:g.56755476C>G	ENSP00000381250:p.Glu172Gln		Q8TC13	Missense_Mutation	SNP	NULL	p.E172Q	ENST00000398189.3	37	c.514	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021981	0.54576	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.45668	0.89;0.89	5.4	4.5	0.54988	.	0.641486	0.12931	N	0.427373	T	0.43964	0.1271	L	0.41236	1.265	0.21762	N	0.999553	D	0.53151	0.958	P	0.51229	0.663	T	0.19386	-1.0307	10	0.30854	T	0.27	-0.0089	11.5574	0.50757	0.0:0.9156:0.0:0.0844	.	172	Q13790	APOF_HUMAN	Q	172;154	ENSP00000381250:E172Q;ENSP00000440997:E154Q	ENSP00000381250:E172Q	E	-	1	0	APOF	55041743	0.766000	0.28496	0.228000	0.23943	0.078000	0.17371	1.485000	0.35519	1.424000	0.47217	0.655000	0.94253	GAG	APOF	-	NULL		0.557	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	C			56755476	-1	no_errors	ENST00000398189	ensembl	human	known	70_37	missense	SNP	0.875	G	G	56755476	C	G	56755476	3	3	147	1	0	0	0	0	1	0	0	0	803	835	29	1	470	1	APOF	12	56755476	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	182654	56755476	77096419	740	23994										
SDR9C7	121214	genome.wustl.edu	37	chr12	57324159	57324159	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgtgaagggtcacttcgatCagtcccaccaggttcacatt	9	11	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:57324159C>G	ENST00000293502.1	-	2	554	c.411G>C	c.(409-411)ctG>ctC	p.L137L		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	137					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCACTTCGATCAGTCCCACCA	0.562																																																	0													140	125	130					12																	57324159		2203	4300	6503	SO:0001819	synonymous_variant	121214			AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.411G>C	12.37:g.57324159C>G			B3KVB4	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L137	ENST00000293502.1	37	c.411	CCDS8926.1	12																																																																																			SDR9C7	-	pfam_DH_sc/Rdtase_SDR		0.562	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR9C7	HGNC	protein_coding	OTTHUMT00000411211.1	C	NM_148897		57324159	-1	no_errors	ENST00000293502	ensembl	human	known	70_37	silent	SNP	0.941	G	G	57324159	C	G	57324159	2	3	147	1	0	0	0	0	0	0	0	1	14004	813	29	1		1	SDR9C7	12	57324159	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	568683	57324159	76527736	741	23995										
C12orf64	283310	genome.wustl.edu	37	chr12	80647248	80647248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtatttcttctcaattaggcCtcgtaatggacaatgggact	9	8	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:80647248C>T	ENST00000547103.1	+	13	1267	c.1261C>T	c.(1261-1263)Ctc>Ttc	p.L421F	OTOGL_ENST00000458043.2_Missense_Mutation_p.L421F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	421	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCAATTAGGCCTCGTAATGGA	0.333																																																	0													138	127	130					12																	80647248		1821	4070	5891	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1261C>T	12.37:g.80647248C>T	ENSP00000447211:p.Leu421Phe		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.L421F	ENST00000547103.1	37	c.1261		12	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525556	0.64860	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.90261	-2.64;-2.64	5.71	5.71	0.89125	.	.	.	.	.	D	0.89770	0.6811	L	0.37507	1.11	0.51482	D	0.999927	.	.	.	.	.	.	D	0.89011	0.3428	7	0.46703	T	0.11	.	13.1107	0.59270	0.0:0.9269:0.0:0.0731	.	.	.	.	F	421	ENSP00000447211:L421F;ENSP00000400895:L421F	ENSP00000400895:L421F	L	+	1	0	OTOGL	79171379	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	4.144000	0.58057	2.699000	0.92147	0.650000	0.86243	CTC	OTOGL	-	pfam_TIL_dom,superfamily_TIL_dom		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80647248	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80647248	C	T	80647248	3	4	147	1	0	0	0	0	1	0	0	0	1711	681	24	4	1311	4	C12orf64	12	80647248	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	23323089	80647248	53204647	742	23996										
TMTC2	160335	genome.wustl.edu	37	chr12	83251179	83251179	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgctctgctacattaaacaCtgttctacaagaggctactc	6	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:83251179C>G	ENST00000321196.3	+	2	1181	c.474C>G	c.(472-474)caC>caG	p.H158Q	TMTC2_ENST00000549919.1_Missense_Mutation_p.H152Q|TMTC2_ENST00000548305.1_Missense_Mutation_p.H158Q	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	158					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACATTAAACACTGTTCTACAA	0.562																																																	0													103	82	89					12																	83251179		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.474C>G	12.37:g.83251179C>G	ENSP00000322300:p.His158Gln		B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H158Q	ENST00000321196.3	37	c.474	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984556	0.53934	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.60920	0.8;0.15;0.69	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.79475	2.455	0.80722	D	1	B;B	0.30146	0.195;0.27	B;B	0.40444	0.329;0.089	T	0.61108	-0.7129	10	0.30078	T	0.28	-22.4175	11.0126	0.47671	0.0:0.8519:0.0:0.1481	.	158;158	Q8N394;F8VSH2	TMTC2_HUMAN;.	Q	158;158;152	ENSP00000322300:H158Q;ENSP00000448292:H158Q;ENSP00000447609:H152Q	ENSP00000322300:H158Q	H	+	3	2	TMTC2	81775310	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.609000	0.24238	1.499000	0.48617	0.650000	0.86243	CAC	TMTC2	-	NULL		0.562	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	C	NM_152588		83251179	1	no_errors	ENST00000321196	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83251179	C	G	83251179	3	3	147	1	0	0	0	0	1	0	0	0	16291	564	20	4	480	4	TMTC2	12	83251179	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2603931	83251179	50600716	743	23997										
NTS	4922	genome.wustl.edu	37	chr12	86276129	86276129	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccagaagaccctacatactCaaaagagattcttactatta	4	11	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:86276129C>G	ENST00000256010.6	+	4	596	c.489C>G	c.(487-489)ctC>ctG	p.L163L	NTS_ENST00000551529.1_Silent_p.L88L	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	163					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						CCTACATACTCAAAAGAGATT	0.294																																																	0													92	106	101					12																	86276129		2202	4295	6497	SO:0001819	synonymous_variant	4922				CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"Endogenous ligands"	8038	protein-coding gene	gene with protein product	"neuromedin N", "pro-neurotensin/neuromedin"	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.489C>G	12.37:g.86276129C>G				Silent	SNP	pfam_NeurotensiN,prints_NeurotensiN	p.L163	ENST00000256010.6	37	c.489	CCDS9029.1	12																																																																																			NTS	-	pfam_NeurotensiN,prints_NeurotensiN		0.294	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTS	HGNC	protein_coding	OTTHUMT00000406111.2	C			86276129	1	no_errors	ENST00000256010	ensembl	human	known	70_37	silent	SNP	1.000	G	G	86276129	C	G	86276129	2	3	147	1	0	0	0	0	0	0	0	1	10733	813	29	1		1	NTS	12	86276129	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3024950	86276129	47575766	744	23998										
NR2C1	7181	genome.wustl.edu	37	chr12	95422188	95422188	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgaagagtactattgccttCaggtaggcatattcgtatcc	9	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:95422188C>T	ENST00000333003.5	-	12	1836	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	502					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTATTGCCTTCAGGTAGGCAT	0.348																																																	0													116	103	108					12																	95422188		2203	4300	6503	SO:0001819	synonymous_variant	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1506G>A	12.37:g.95422188C>T			A8K5K4|Q15625|Q15626	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L502	ENST00000333003.5	37	c.1506	CCDS9051.1	12																																																																																			NR2C1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.348	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2	C	NM_003297		95422188	-1	no_errors	ENST00000333003	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95422188	C	T	95422188	2	4	147	1	0	0	0	0	0	0	0	1	10646	813	29	1		1	NR2C1	12	95422188	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	9146059	95422188	38429707	745	23999										
IKBIP	121457	genome.wustl.edu	37	chr12	99008094	99008094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgaaaagacttcaattgttCcatgatagcttcagatttct	6	7	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:99008094C>T	ENST00000342502.2	-	3	733	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	IKBIP_ENST00000393042.3_Nonsense_Mutation_p.W68*|IKBIP_ENST00000420861.1_Missense_Mutation_p.E2K	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	108					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCAATTGTTCCATGATAGCT	0.279																																																	0													35	35	35					12																	99008094		2203	4294	6497	SO:0001583	missense	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.322G>A	12.37:g.99008094C>T	ENSP00000343471:p.Glu108Lys		Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Nonsense_Mutation	SNP	NULL	p.W68*	ENST00000342502.2	37	c.204	CCDS9067.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.75|18.75	3.689818|3.689818	0.68271|0.68271	.|.	.|.	ENSG00000166130|ENSG00000166130	ENST00000342502;ENST00000420861|ENST00000393042	T;T|.	0.44881|.	0.93;0.91|.	5.76|5.76	3.63|3.63	0.41609|0.41609	.|.	.|.	.|.	.|.	.|.	T|.	0.18002|.	0.0432|.	.|.	.|.	.|.	0.26812|0.26812	N|N	0.968989|0.968989	B|.	0.15473|.	0.013|.	B|.	0.14023|.	0.01|.	T|.	0.13388|.	-1.0511|.	8|.	0.25751|0.07030	T|T	0.34|0.85	.|.	11.0239|11.0239	0.47734|0.47734	0.0:0.7296:0.0:0.2704|0.0:0.7296:0.0:0.2704	.|.	108|.	Q70UQ0|.	IKIP_HUMAN|.	K|X	108;2|68	ENSP00000343471:E108K;ENSP00000398023:E2K|.	ENSP00000343471:E108K|ENSP00000376762:W68X	E|W	-|-	1|3	0|0	IKBIP|IKBIP	97532225|97532225	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.807000|0.807000	0.45602|0.45602	1.542000|1.542000	0.36137|0.36137	1.448000|1.448000	0.47680|0.47680	-0.140000|-0.140000	0.14226|0.14226	GAA|TGG	IKBIP	-	NULL		0.279	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99008094	-1	no_errors	ENST00000393042	ensembl	human	known	70_37	nonsense	SNP	0.947	T	T	99008094	C	T	99008094	3	4	147	1	0	0	0	0	1	0	0	0	7629	865	30	1	734	1	IKBIP	12	99008094	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3585906	99008094	34843801	746	24000										
IKBIP	121457	genome.wustl.edu	37	chr12	99008106	99008106	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caattgttccatgatagcttCagatttctgccactataaga	6	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:99008106C>T	ENST00000342502.2	-	3	721	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	IKBIP_ENST00000393042.3_Silent_p.L64L|IKBIP_ENST00000420861.1_5'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	104					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATGATAGCTTCAGATTTCTGC	0.264																																																	0													28	29	29					12																	99008106		2201	4291	6492	SO:0001583	missense	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.310G>A	12.37:g.99008106C>T	ENSP00000343471:p.Glu104Lys		Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E104K	ENST00000342502.2	37	c.310	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574060	0.45902	.	.	ENSG00000166130	ENST00000342502	T	0.50813	0.73	5.76	3.9	0.45041	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.80722	D	1	B	0.19583	0.037	B	0.18561	0.022	T	0.12708	-1.0537	8	0.34782	T	0.22	.	7.5366	0.27714	0.13:0.6885:0.1133:0.0682	.	104	Q70UQ0	IKIP_HUMAN	K	104	ENSP00000343471:E104K	ENSP00000343471:E104K	E	-	1	0	IKBIP	97532237	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.703000	0.25646	1.409000	0.46915	0.655000	0.94253	GAA	IKBIP	-	NULL		0.264	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99008106	-1	no_errors	ENST00000342502	ensembl	human	known	70_37	missense	SNP	0.938	T	T	99008106	C	T	99008106	3	4	147	1	0	0	0	0	1	0	0	0	7629	835	29	1	746	1	IKBIP	12	99008106	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	12	99008106	34843789	747	24001										
RFX4	5992	genome.wustl.edu	37	chr12	107125951	107125951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgtttgatgactacgtgctCtacctgttagaatctctgca	8	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:107125951C>T	ENST00000392842.1	+	14	1809	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	RFX4_ENST00000357881.4_Silent_p.L474L|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.L371L	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	465	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTACGTGCTCTACCTGTTAG	0.473																																																	0													194	175	182					12																	107125951		2203	4300	6503	SO:0001819	synonymous_variant	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1395C>T	12.37:g.107125951C>T			A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	pfam_DNA-bd_RFX	p.L474	ENST00000392842.1	37	c.1422	CCDS9106.1	12																																																																																			RFX4	-	NULL		0.473	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	C	NM_032491		107125951	1	no_errors	ENST00000357881	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107125951	C	T	107125951	2	4	147	1	0	0	0	0	0	0	0	1	13295	900	32	1		1	RFX4	12	107125951	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8117845	107125951	26725944	748	24002										
ACAD10	80724	genome.wustl.edu	37	chr12	112167695	112167695	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcccagccatggagaggctGatcgaatggctgcccctcca	11	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:112167695G>C	ENST00000313698.4	+	10	1484	c.1329G>C	c.(1327-1329)ctG>ctC	p.L443L	ACAD10_ENST00000549590.1_Silent_p.L443L|ACAD10_ENST00000392636.2_Silent_p.L45L|ACAD10_ENST00000455480.2_Silent_p.L474L|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	443						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGAGAGGCTGATCGAATGGC	0.557																																																	0													71	61	65					12																	112167695		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1329G>C	12.37:g.112167695G>C			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.L474	ENST00000313698.4	37	c.1422	CCDS31903.1	12																																																																																			ACAD10	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.557	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	G	NM_025247		112167695	1	no_errors	ENST00000455480	ensembl	human	known	70_37	silent	SNP	1.000	C	C	112167695	G	C	112167695	2	2	147	1	0	0	0	0	0	0	0	1	108	1277	45	1		1	ACAD10	12	112167695	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5041744	112167695	21684200	749	24003										
C12orf51	283450	genome.wustl.edu	37	chr12	112602065	112602065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcgcacagggcctccagctcGgtctcatcattgatctggag	12	13	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:112602065G>A	ENST00000430131.2	-	72	12428	c.11283C>T	c.(11281-11283)acC>acT	p.T3761T	HECTD4_ENST00000550722.1_Silent_p.T4037T|HECTD4_ENST00000377560.5_Silent_p.T4011T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3761	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCTCCAGCTCGGTCTCATCAT	0.627																																																	0													59	67	64					12																	112602065		2118	4215	6333	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11283C>T	12.37:g.112602065G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.T4011	ENST00000430131.2	37	c.12033		12																																																																																			HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.627	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112602065	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	silent	SNP	0.000	A	A	112602065	G	A	112602065	2	1	147	1	0	0	0	0	0	0	0	1	1700	1103	39	2		2	C12orf51	12	112602065	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	434370	112602065	21249830	750	24004										
RPH3A	22895	genome.wustl.edu	37	chr12	113327880	113327880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaggcatggccctttatgagGaagaggtgagcactgagcag	16	7	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113327880G>A	ENST00000389385.4	+	18	2112	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.E539K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E535K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E490K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E539K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E539K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E490K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	539					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCTTTATGAGGAAGAGGTGAG	0.507																																																	0													153	150	151					12																	113327880		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1615G>A	12.37:g.113327880G>A	ENSP00000374036:p.Glu539Lys		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.E539K	ENST00000389385.4	37	c.1615	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575450	0.65878	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.07;0.06;0.06;0.06	5.29	5.29	0.74685	.	0.089755	0.46758	D	0.000263	T	0.54967	0.1891	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.17852	0.024;0.002;0.002;0.024	B;B;B;B	0.14023	0.006;0.003;0.003;0.01	T	0.48352	-0.9043	10	0.25106	T	0.35	.	18.0793	0.89438	0.0:0.0:1.0:0.0	.	490;539;539;535	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	539;539;490;535;539;490;539;191	ENSP00000440384:E539K;ENSP00000374036:E539K;ENSP00000413254:E490K;ENSP00000448297:E535K;ENSP00000405357:E539K;ENSP00000450347:E490K;ENSP00000408889:E539K	ENSP00000374036:E539K	E	+	1	0	RPH3A	111812263	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.198000	0.94994	2.625000	0.88918	0.655000	0.94253	GAA	RPH3A	-	NULL		0.507	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	G	NM_014954		113327880	1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113327880	G	A	113327880	3	1	147	1	0	0	0	0	1	0	0	0	13581	1175	41	1	1677	1	RPH3A	12	113327880	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	725815	113327880	20524015	751	24005										
OAS1	4938	genome.wustl.edu	37	chr12	113355471	113355471	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttacccatgctttaagaattGggatgggtccccagtgagct	11	9	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113355471G>C	ENST00000202917.5	+	5	1267	c.1004G>C	c.(1003-1005)tGg>tCg	p.W335S	OAS1_ENST00000551241.1_Missense_Mutation_p.W335S|OAS1_ENST00000452357.2_Missense_Mutation_p.W335S|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.W335S	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	335					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TTTAAGAATTGGGATGGGTCC	0.562																																																	0													135	142	140					12																	113355471		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1004G>C	12.37:g.113355471G>C	ENSP00000202917:p.Trp335Ser		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.W335S	ENST00000202917.5	37	c.1004	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607623	0.03717	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000553152	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.05	-2.43	0.06522	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	3.720810	0.00531	N	0.000213	T	0.28928	0.0718	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.25772	0.134;0.061;0.059;0.022	B;B;B;B	0.23275	0.045;0.038;0.039;0.022	T	0.03240	-1.1057	10	0.10902	T	0.67	3.7158	0.7308	0.00956	0.1869:0.2737:0.2611:0.2783	.	335;335;335;335	F8VXY3;P00973;P00973-3;P00973-2	.;OAS1_HUMAN;.;.	S	335;335;335;335;335;81	ENSP00000202917:W335S;ENSP00000388001:W335S;ENSP00000415721:W335S;ENSP00000448790:W335S;ENSP00000449053:W81S	ENSP00000202917:W335S	W	+	2	0	OAS1	111839854	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.513000	0.06305	-0.274000	0.09232	0.655000	0.94253	TGG	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.562	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	G			113355471	1	no_errors	ENST00000445409	ensembl	human	known	70_37	missense	SNP	0.006	C	C	113355471	G	C	113355471	3	2	147	1	0	0	0	0	1	0	0	0	10823	1357	47	4	1022	4	OAS1	12	113355471	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	27591	113355471	20496424	752	24006										
DTX1	1840	genome.wustl.edu	37	chr12	113534597	113534597	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccaacaccacgggcgagtcGgacaccgtggtgtggaacga	14	12	0	0	rs568353243		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113534597G>C	ENST00000257600.3	+	9	2219	c.1716G>C	c.(1714-1716)tcG>tcC	p.S572S	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	572					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGGCGAGTCGGACACCGTGG	0.617																																																	0													84	56	65					12																	113534597		2203	4300	6503	SO:0001819	synonymous_variant	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1716G>C	12.37:g.113534597G>C			O60630|Q9BS04	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S572	ENST00000257600.3	37	c.1716	CCDS9164.1	12																																																																																			DTX1	-	NULL		0.617	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	G			113534597	1	no_errors	ENST00000257600	ensembl	human	known	70_37	silent	SNP	0.636	C	C	113534597	G	C	113534597	2	2	147	1	0	0	0	0	0	0	0	1	4803	1103	39	2		2	DTX1	12	113534597	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	179126	113534597	20317298	753	24007										
DDX54	79039	genome.wustl.edu	37	chr12	113618744	113618744	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgcacccacccatggactgGaagcctccagacttcttctt	7	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113618744G>A	ENST00000306014.5	-	2	321	c.294C>T	c.(292-294)ttC>ttT	p.F98F	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Silent_p.F98F	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	98					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGGACTGGAAGCCTCCAG	0.612																																																	0													93	91	92					12																	113618744		2203	4300	6503	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.294C>T	12.37:g.113618744G>A			Q86YT8|Q9BRZ1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F98	ENST00000306014.5	37	c.294	CCDS31907.1	12																																																																																			DDX54	-	pfscan_RNA_helicase_DEAD_Q_motif		0.612	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	G	NM_024072		113618744	-1	no_errors	ENST00000314045	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113618744	G	A	113618744	2	1	147	1	0	0	0	0	0	0	0	1	4377	1165	41	1		1	DDX54	12	113618744	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	84147	113618744	20233151	754	24008										
SDS	10993	genome.wustl.edu	37	chr12	113836322	113836322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accttgaactccacataccaGatgagggggtcatcaaaggg	11	10	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113836322G>C	ENST00000257549.4	-	5	545	c.423C>G	c.(421-423)atC>atG	p.I141M		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	141					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CCACATACCAGATGAGGGGGT	0.547																																																	0													47	48	48					12																	113836322		2203	4300	6503	SO:0001583	missense	10993			J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.423C>G	12.37:g.113836322G>C	ENSP00000257549:p.Ile141Met		A8K9P5	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.I141M	ENST00000257549.4	37	c.423	CCDS9169.1	12	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558553	0.65538	.	.	ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000547342	D	0.96992	-4.2	4.34	4.34	0.51931	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.181112	0.45606	D	0.000346	D	0.97514	0.9186	M	0.88704	2.975	0.44946	D	0.997968	P;P	0.48834	0.916;0.916	P;P	0.57283	0.817;0.817	D	0.97688	1.0177	10	0.87932	D	0	-9.7979	9.0109	0.36139	0.0:0.1588:0.6777:0.1635	.	141;141	Q8WW81;P20132	.;SDHL_HUMAN	M	141;141;235	ENSP00000257549:I141M	ENSP00000449061:I235M	I	-	3	3	SDS;RP11-303O9.2	112320705	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.586000	0.53950	2.246000	0.74042	0.555000	0.69702	ATC	SDS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.547	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDS	HGNC	protein_coding	OTTHUMT00000404790.1	G	NM_006843		113836322	-1	no_errors	ENST00000257549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113836322	G	C	113836322	3	2	147	1	0	0	0	0	1	0	0	0	14005	932	33	1	579	1	SDS	12	113836322	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	217578	113836322	20015573	755	24009										
TBX3	6926	genome.wustl.edu	37	chr12	115114156	115114156	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctacagtggaggcggctggaGaagaagcctgggcgaagcag	18	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:115114156G>A	ENST00000257566.3	-	6	1450	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	TBX3_ENST00000349155.2_Missense_Mutation_p.S334F	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	354					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCTGGAGAAGAAGCCTG	0.512																																																	0													123	117	119					12																	115114156		2203	4300	6503	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1061C>T	12.37:g.115114156G>A	ENSP00000257566:p.Ser354Phe		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S354F	ENST00000257566.3	37	c.1061	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007034	0.74932	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89050	-2.46;-2.45	4.69	4.69	0.59074	Transcription factor, T-box, region of unknown function (1);	0.858645	0.10920	N	0.619542	D	0.92254	0.7543	L	0.52573	1.65	0.58432	D	0.999996	P;D	0.53462	0.898;0.96	D;P	0.64321	0.924;0.827	D	0.90285	0.4318	10	0.66056	D	0.02	.	13.521	0.61568	0.0:0.1697:0.8303:0.0	.	334;354	O15119-2;O15119	.;TBX3_HUMAN	F	334;354;354	ENSP00000257567:S334F;ENSP00000257566:S354F	ENSP00000257566:S354F	S	-	2	0	TBX3	113598539	1.000000	0.71417	0.524000	0.27887	0.976000	0.68499	6.822000	0.75277	2.297000	0.77311	0.655000	0.94253	TCT	TBX3	-	pfam_TBX		0.512	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	G	NM_016569, NM_005996		115114156	-1	no_errors	ENST00000257566	ensembl	human	known	70_37	missense	SNP	0.991	A	A	115114156	G	A	115114156	3	1	147	1	0	0	0	0	1	0	0	0	15689	942	33	1	1182	1	TBX3	12	115114156	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1277834	115114156	18737739	756	24010										
MSI1	4440	genome.wustl.edu	37	chr12	120789175	120789175	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcggggaggactggggcgctCgggagaggggtccgctctac	20	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:120789175C>T	ENST00000257552.2	-	11	850	c.762G>A	c.(760-762)ccG>ccA	p.P254P	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	254					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGGCGCTCGGGAGAGGGG	0.562																																																	0													39	41	40					12																	120789175		2203	4300	6503	SO:0001819	synonymous_variant	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.762G>A	12.37:g.120789175C>T			Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P254	ENST00000257552.2	37	c.762	CCDS9196.1	12																																																																																			MSI1	-	NULL		0.562	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI1	HGNC	protein_coding	OTTHUMT00000403629.1	C	NM_002442		120789175	-1	no_errors	ENST00000257552	ensembl	human	known	70_37	silent	SNP	1.000	T	T	120789175	C	T	120789175	2	4	147	1	0	0	0	0	0	0	0	1	9898	871	31	1		1	MSI1	12	120789175	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5675019	120789175	13062720	757	24011										
CAMKK2	10645	genome.wustl.edu	37	chr12	121712275	121712275	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgcccctgccccccagctCatcctggggggcggcccggt	14	19	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:121712275C>T	ENST00000324774.5	-	2	883	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CAMKK2_ENST00000404169.3_Missense_Mutation_p.E19K|CAMKK2_ENST00000347034.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000446440.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E19K|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E19K|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E19K	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	19					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCCCCAGCTCATCCTGGGGG	0.652																																																	0													12	16	14					12																	121712275		2146	4226	6372	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.55G>A	12.37:g.121712275C>T	ENSP00000312741:p.Glu19Lys		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	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.E19K	ENST00000324774.5	37	c.55	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255422	0.59321	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485;ENST00000398924	T;T;T;T;T;T;T;T;T;T;T	0.74526	-0.84;-0.82;-0.81;-0.82;-0.85;-0.82;-0.85;-0.82;-0.82;1.73;1.02	5.31	4.4	0.53042	.	0.532223	0.15579	N	0.255039	T	0.61337	0.2339	N	0.24115	0.695	0.27279	N	0.958153	B;B;B;B;B;B;B	0.30605	0.058;0.275;0.287;0.004;0.13;0.181;0.136	B;B;B;B;B;B;B	0.28011	0.04;0.037;0.085;0.015;0.055;0.022;0.053	T	0.59936	-0.7360	10	0.62326	D	0.03	2.4041	12.5233	0.56072	0.0:0.9129:0.0:0.0871	.	19;19;19;19;19;19;19	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	K	19	ENSP00000376266:E19K;ENSP00000321230:E19K;ENSP00000445944:E19K;ENSP00000336634:E19K;ENSP00000312741:E19K;ENSP00000388368:E19K;ENSP00000384600:E19K;ENSP00000388273:E19K;ENSP00000376265:E19K;ENSP00000444894:E19K;ENSP00000445400:E19K	ENSP00000312741:E19K	E	-	1	0	CAMKK2	120196658	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.251000	0.51453	2.643000	0.89663	0.462000	0.41574	GAG	CAMKK2	-	NULL		0.652	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	C	NM_172226		121712275	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	0.998	T	T	121712275	C	T	121712275	3	4	147	1	0	0	0	0	1	0	0	0	2612	835	29	1	1785	1	CAMKK2	12	121712275	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	923100	121712275	12139620	758	24012										
KNTC1	9735	genome.wustl.edu	37	chr12	123072416	123072416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatgaatgccactttgagtGaaaaggtatagtgtcaagaa	10	5	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:123072416G>A	ENST00000333479.7	+	39	4066	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1297					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CACTTTGAGTGAAAAGGTATA	0.413																																																	0													98	85	89					12																	123072416		1858	4104	5962	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3889G>A	12.37:g.123072416G>A	ENSP00000328236:p.Glu1297Lys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E1297K	ENST00000333479.7	37	c.3889	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530834	0.27387	.	.	ENSG00000184445	ENST00000333479	T	0.15256	2.44	5.7	4.79	0.61399	.	0.501136	0.23183	N	0.050995	T	0.09642	0.0237	N	0.20685	0.6	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09357	-1.0678	10	0.07644	T	0.81	-4.9327	10.1345	0.42697	0.1565:0.0:0.8435:0.0	.	1297	P50748	KNTC1_HUMAN	K	1297	ENSP00000328236:E1297K	ENSP00000328236:E1297K	E	+	1	0	KNTC1	121638369	0.997000	0.39634	0.981000	0.43875	0.437000	0.31866	1.337000	0.33862	1.379000	0.46325	0.462000	0.41574	GAA	KNTC1	-	NULL		0.413	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123072416	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.987	A	A	123072416	G	A	123072416	3	1	147	1	0	0	0	0	1	0	0	0	8448	1291	45	1	4039	1	KNTC1	12	123072416	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1360141	123072416	10779479	759	24013										
GTF2H3	2967	genome.wustl.edu	37	chr12	124144781	124144781	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaactgaaagtgtctgcctGaggataaaatattttcccca	8	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:124144781G>C	ENST00000543341.2	+	13	957	c.926G>C	c.(925-927)tGa>tCa	p.*309S	GTF2H3_ENST00000228955.7_Nonstop_Mutation_p.*268S	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	0					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GTGTCTGCCTGAGGATAAAAT	0.328								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0													53	58	56					12																	124144781		2203	4300	6503	SO:0001578	stop_lost	2967			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.926G>C	12.37:g.124144781G>C	ENSP00000445162:p.*309Serext*2		B2R819|B4DNZ6|Q7L0G0|Q96AT7	Nonstop_Mutation	SNP	pfam_TF_Tfb4,tigrfam_TF_Tfb4	p.*309S	ENST00000543341.2	37	c.926	CCDS9252.1	12	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192660	0.58017	.	.	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000542231	.	.	.	4.96	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5716	0.07920	0.2972:0.0:0.7028:0.0	.	.	.	.	S	268;309;259	.	.	X	+	2	2	GTF2H3	122710734	0.793000	0.28825	0.722000	0.30670	0.406000	0.30931	0.841000	0.27613	2.337000	0.79520	0.650000	0.86243	TGA	GTF2H3	-	NULL		0.328	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	G	NM_001516		124144781	1	no_errors	ENST00000543341	ensembl	human	known	70_37	nonstop	SNP	0.444	C	C	124144781	G	C	124144781	4	2	147	1	0	0	0	0	0	0	0	0	6884	1285	45	1	976	1	GTF2H3	12	124144781	Nonstop_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1072365	124144781	9707114	760	24014										
SLC15A4	121260	genome.wustl.edu	37	chr12	129283957	129283957	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcagctgagtatgcaaattCcaggcctgaggaaagaaaag	13	7	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:129283957C>G	ENST00000266771.5	-	7	1459	c.1420G>C	c.(1420-1422)Gaa>Caa	p.E474Q	SLC15A4_ENST00000545031.1_5'UTR|SLC15A4_ENST00000544112.1_Missense_Mutation_p.E137Q	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	474					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TATGCAAATTCCAGGCCTGAG	0.502																																																	0													65	66	66					12																	129283957		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1420G>C	12.37:g.129283957C>G	ENSP00000266771:p.Glu474Gln		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E474Q	ENST00000266771.5	37	c.1420	CCDS9264.1	12	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542985	0.65198	.	.	ENSG00000139370	ENST00000266771;ENST00000544112	T;T	0.05199	3.48;3.48	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.82630	2.6	0.80722	D	1	P	0.51240	0.943	P	0.61940	0.896	T	0.02037	-1.1225	10	0.66056	D	0.02	.	18.8949	0.92419	0.0:1.0:0.0:0.0	.	474	Q8N697	S15A4_HUMAN	Q	474;137	ENSP00000266771:E474Q;ENSP00000439946:E137Q	ENSP00000266771:E474Q	E	-	1	0	SLC15A4	127849910	1.000000	0.71417	0.956000	0.39512	0.240000	0.25518	7.194000	0.77789	2.442000	0.82660	0.655000	0.94253	GAA	SLC15A4	-	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.502	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A4	HGNC	protein_coding	OTTHUMT00000399663.1	C	NM_145648		129283957	-1	no_errors	ENST00000266771	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129283957	C	G	129283957	3	3	147	1	0	0	0	0	1	0	0	0	14431	864	30	1	321	1	SLC15A4	12	129283957	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5139176	129283957	4567938	761	24015										
SFRS8	6433	genome.wustl.edu	37	chr12	132249087	132249087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcgtgttaagctagatgatGacagtgatgatgatgaagaa	12	3	0	8			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:132249087G>A	ENST00000261674.4	+	12	1948	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SFSWAP_ENST00000541286.1_Missense_Mutation_p.D603N	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	603					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCTAGATGATGACAGTGATGA	0.433																																																	0													99	83	89					12																	132249087		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1807G>A	12.37:g.132249087G>A	ENSP00000261674:p.Asp603Asn		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.D603N	ENST00000261674.4	37	c.1807	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.095429	0.94197	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.31769	2.51;1.48;2.44	5.39	5.39	0.77823	.	0.098606	0.85682	D	0.000000	T	0.54143	0.1840	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.48043	-0.9069	10	0.44086	T	0.13	-36.5726	19.5059	0.95116	0.0:0.0:1.0:0.0	.	603;603	F5H6B8;Q12872	.;SFSWA_HUMAN	N	603;396;603	ENSP00000261674:D603N;ENSP00000443045:D396N;ENSP00000437738:D603N	ENSP00000261674:D603N	D	+	1	0	SFSWAP	130815040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.521000	0.90569	2.687000	0.91594	0.561000	0.74099	GAC	SFSWAP	-	NULL		0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132249087	1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132249087	G	A	132249087	3	1	147	1	0	0	0	0	1	0	0	0	14213	1290	45	1	1853	1	SFRS8	12	132249087	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2965130	132249087	1602808	762	24016										
SFRS8	6433	genome.wustl.edu	37	chr12	132249105	132249105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgacagtgatgatgatgaaGaaagcaaagaaggccaagaa	12	4	0	8			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:132249105G>A	ENST00000261674.4	+	12	1966	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E609K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	609					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGATGATGAAGAAAGCAAAGA	0.433																																																	0													107	90	96					12																	132249105		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1825G>A	12.37:g.132249105G>A	ENSP00000261674:p.Glu609Lys		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E609K	ENST00000261674.4	37	c.1825	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097628	0.76870	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.23754	2.9;1.89;2.9	5.39	5.39	0.77823	.	0.205393	0.50627	D	0.000116	T	0.35566	0.0936	L	0.51422	1.61	0.58432	D	0.999993	D;D	0.55172	0.965;0.97	P;P	0.50970	0.655;0.607	T	0.01930	-1.1245	10	0.18276	T	0.48	-29.8693	19.5059	0.95116	0.0:0.0:1.0:0.0	.	609;609	F5H6B8;Q12872	.;SFSWA_HUMAN	K	609;402;609	ENSP00000261674:E609K;ENSP00000443045:E402K;ENSP00000437738:E609K	ENSP00000261674:E609K	E	+	1	0	SFSWAP	130815058	1.000000	0.71417	0.037000	0.18230	0.993000	0.82548	6.718000	0.74713	2.687000	0.91594	0.561000	0.74099	GAA	SFSWAP	-	NULL		0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132249105	1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	0.995	A	A	132249105	G	A	132249105	3	1	147	1	0	0	0	0	1	0	0	0	14213	943	33	1	1871	1	SFRS8	12	132249105	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	18	132249105	1602790	763	24017										
GALNT9	50614	genome.wustl.edu	37	chr12	132834240	132834240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagctcacctgatgggtgctGactcgtcgccgcggtccagc	13	15	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:132834240G>A	ENST00000328957.8	-	5	946	c.947C>T	c.(946-948)tCa>tTa	p.S316L	GALNT9_ENST00000535208.1_5'Flank|GALNT9_ENST00000535228.1_5'UTR	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	316					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GATGGGTGCTGACTCGTCGCC	0.697																																					Colon(186;2147 2752 13553 41466)												0													22	24	23					12																	132834240		691	1591	2282	SO:0001583	missense	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.947C>T	12.37:g.132834240G>A	ENSP00000329846:p.Ser316Leu		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S316L	ENST00000328957.8	37	c.947		12	.	.	.	.	.	.	.	.	.	.	g	16.30	3.083194	0.55861	.	.	ENSG00000182870	ENST00000328957	T	0.58797	0.31	3.75	3.75	0.43078	.	0.548859	0.18613	N	0.136097	T	0.65165	0.2665	L	0.55743	1.74	0.80722	D	1	P;B;B	0.46578	0.88;0.304;0.108	P;P;B	0.51945	0.685;0.482;0.36	T	0.70726	-0.4793	10	0.87932	D	0	.	15.5717	0.76345	0.0:0.0:1.0:0.0	.	316;316;173	B2RXG6;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	L	316	ENSP00000329846:S316L	ENSP00000329846:S316L	S	-	2	0	GALNT9	131344313	1.000000	0.71417	0.045000	0.18777	0.016000	0.09150	7.591000	0.82666	1.637000	0.50538	0.550000	0.68814	TCA	GALNT9	-	NULL		0.697	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	G	NM_001122636		132834240	-1	no_errors	ENST00000328957	ensembl	human	known	70_37	missense	SNP	0.945	A	A	132834240	G	A	132834240	3	1	147	1	0	0	0	0	1	0	0	0	6239	1294	45	1	892	1	GALNT9	12	132834240	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	585135	132834240	1017655	764	24018										
ZNF10	7556	genome.wustl.edu	37	chr12	133733057	133733057	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaggccctatgaatgcaatGaatgtggaaagtcttacagc	11	7	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:133733057G>A	ENST00000248211.6	+	5	1447	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.E275K|ZNF10_ENST00000426665.2_Missense_Mutation_p.E409K|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCAATGAATGTGGAAA	0.418																																																	0													143	145	144					12																	133733057		2203	4300	6503	SO:0001583	missense	7556			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1225G>A	12.37:g.133733057G>A	ENSP00000248211:p.Glu409Lys		B2RBS1|Q8TC91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E409K	ENST00000248211.6	37	c.1225	CCDS9283.1	12	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236707	0.39498	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.16897	2.31;2.31;2.33	3.72	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.217098	0.23402	N	0.048575	T	0.14184	0.0343	L	0.39566	1.225	0.48185	D	0.999606	B	0.15930	0.015	B	0.20955	0.032	T	0.06917	-1.0800	9	.	.	.	.	11.9939	0.53189	0.0:0.1773:0.8227:0.0	.	409	P21506	ZNF10_HUMAN	K	409;409;275	ENSP00000248211:E409K;ENSP00000393814:E409K;ENSP00000384893:E275K	.	E	+	1	0	ZNF10	132243130	0.000000	0.05858	0.961000	0.40146	0.988000	0.76386	0.419000	0.21247	0.845000	0.35118	0.650000	0.86243	GAA	ZNF10	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1	G	NM_015394		133733057	1	no_errors	ENST00000248211	ensembl	human	known	70_37	missense	SNP	0.594	A	A	133733057	G	A	133733057	3	1	147	1	0	0	0	0	1	0	0	0	17742	1291	45	1	1239	1	ZNF10	12	133733057	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	898817	133733057	118838	765	24019										
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20240607	20240607	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acatcgtacgactcgtaattGaatgtggagctgactgcaat	10	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:20240607G>C	ENST00000361479.5	+	10	2130	c.2062G>C	c.(2062-2064)Gaa>Caa	p.E688Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E688Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	688					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACTCGTAATTGAATGTGGAGC	0.433																																																	0													191	162	172					13																	20240607		2203	4300	6503	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2062G>C	13.37:g.20240607G>C	ENSP00000355388:p.Glu688Gln		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.E688Q	ENST00000361479.5	37	c.2062	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638903	0.67130	.	.	ENSG00000196199	ENST00000414242;ENST00000360754;ENST00000361479	T;T	0.64991	-0.13;-0.13	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74979	-0.3479	10	0.87932	D	0	.	19.9944	0.97379	0.0:0.0:1.0:0.0	.	688;688	Q99549;Q99549-2	MPP8_HUMAN;.	Q	688;17;688	ENSP00000414663:E688Q;ENSP00000355388:E688Q	ENSP00000353982:E17Q	E	+	1	0	MPHOSPH8	19138607	1.000000	0.71417	0.976000	0.42696	0.342000	0.28953	9.121000	0.94375	2.720000	0.93068	0.557000	0.71058	GAA	MPHOSPH8	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.433	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	G	NM_017520		20240607	1	no_errors	ENST00000414242	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20240607	G	C	20240607	3	2	147	1	0	0	0	0	1	0	0	0	9750	1291	45	1	2100	1	MPHOSPH8	13	20240607	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		20240607	94929271	766	24020										
PSPC1	55269	genome.wustl.edu	37	chr13	20279828	20279828	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccattatctggcatcattgGagttcccatatttgcggctc	8	11	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:20279828G>C	ENST00000338910.4	-	8	1519	c.1360C>G	c.(1360-1362)Cca>Gca	p.P454A		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	454	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGCATCATTGGAGTTCCCATA	0.413																																																	0													18	20	19					13																	20279828		1775	4016	5791	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1360C>G	13.37:g.20279828G>C	ENSP00000343966:p.Pro454Ala		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.P454A	ENST00000338910.4	37	c.1360	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473818	0.26423	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14022	2.54	5.17	3.4	0.38934	.	0.226542	0.45867	D	0.000328	T	0.07954	0.0199	N	0.14661	0.345	0.42251	D	0.991972	B	0.16603	0.018	B	0.14023	0.01	T	0.26018	-1.0115	10	0.27785	T	0.31	-1.8941	10.3209	0.43764	0.071:0.0:0.794:0.135	.	454	Q8WXF1	PSPC1_HUMAN	A	454;394	ENSP00000343966:P454A	ENSP00000343966:P454A	P	-	1	0	PSPC1	19177828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.726000	0.74758	0.656000	0.30886	0.491000	0.48974	CCA	PSPC1	-	NULL		0.413	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	G			20279828	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20279828	G	C	20279828	3	2	147	1	0	0	0	0	1	0	0	0	12743	1174	41	1	219	1	PSPC1	13	20279828	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	39221	20279828	94890050	767	24021										
XPO4	64328	genome.wustl.edu	37	chr13	21395946	21395946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaatggcagttaaaacatttCgtgggaacacggttatcagg	12	6	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:21395946C>T	ENST00000255305.6	-	9	1141	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	XPO4_ENST00000400602.2_Missense_Mutation_p.R357Q			Q9C0E2	XPO4_HUMAN	exportin 4	357					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAAACATTTCGTGGGAACAC	0.408																																																	0													117	115	115					13																	21395946		1933	4142	6075	SO:0001583	missense	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1070G>A	13.37:g.21395946C>T	ENSP00000255305:p.Arg357Gln		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R357Q	ENST00000255305.6	37	c.1070	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650828	0.67472	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.22743	1.94;1.94	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.46758	0.526	T	0.00701	-1.1603	10	0.46703	T	0.11	-1.6813	19.5961	0.95538	0.0:1.0:0.0:0.0	.	357	Q9C0E2	XPO4_HUMAN	Q	357;227;357	ENSP00000383444:R357Q;ENSP00000255305:R357Q	ENSP00000255305:R357Q	R	-	2	0	XPO4	20293946	1.000000	0.71417	0.996000	0.52242	0.286000	0.27126	7.443000	0.80521	2.630000	0.89119	0.563000	0.77884	CGA	XPO4	-	superfamily_ARM-type_fold		0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	C	NM_022459		21395946	-1	no_errors	ENST00000255305	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21395946	C	T	21395946	3	4	147	1	0	0	0	0	1	0	0	0	17477	884	31	1	2445	1	XPO4	13	21395946	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1116118	21395946	93773932	768	24022										
SACS	26278	genome.wustl.edu	37	chr13	23911873	23911873	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttctctgaaaatgtgttttCaagtagtatctgtttgcagc	8	6	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:23911873C>T	ENST00000382292.3	-	9	6415	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	SACS_ENST00000402364.1_Missense_Mutation_p.E1298K|SACS_ENST00000382298.3_Missense_Mutation_p.E2048K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2048					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGTGTTTTCAAGTAGTATC	0.343																																																	0													25	28	27					13																	23911873		2196	4293	6489	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6142G>A	13.37:g.23911873C>T	ENSP00000371729:p.Glu2048Lys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E2048K	ENST00000382292.3	37	c.6142	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072419	0.55646	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.13;-2.27;-2.13	5.88	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	L	0.47716	1.5	0.48288	D	0.999621	D	0.59357	0.985	P	0.53518	0.728	D	0.87435	0.2391	10	0.39692	T	0.17	.	15.0071	0.71522	0.0:0.932:0.0:0.068	.	2048	Q9NZJ4	SACS_HUMAN	K	2048;1298;2048	ENSP00000371729:E2048K;ENSP00000385844:E1298K;ENSP00000371735:E2048K	ENSP00000371729:E2048K	E	-	1	0	SACS	22809873	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	7.487000	0.81328	1.493000	0.48517	-0.136000	0.14681	GAA	SACS	-	NULL		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	C	NM_014363		23911873	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	0.999	T	T	23911873	C	T	23911873	3	4	147	1	0	0	0	0	1	0	0	0	13834	835	29	1	7601	1	SACS	13	23911873	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2515927	23911873	91258005	769	24023										
ATP12A	479	genome.wustl.edu	37	chr13	25266734	25266734	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgtggttcgacaatcagatCtttgtggctgacaccagtga	11	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:25266734C>A	ENST00000381946.3	+	9	1403	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	ATP12A_ENST00000218548.6_Silent_p.I418I			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	412					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ACAATCAGATCTTTGTGGCTG	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)												0													90	80	83					13																	25266734		2203	4300	6503	SO:0001819	synonymous_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1236C>A	13.37:g.25266734C>A			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.I418	ENST00000381946.3	37	c.1254	CCDS31948.1	13																																																																																			ATP12A	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	C	NM_001676		25266734	1	no_errors	ENST00000218548	ensembl	human	known	70_37	silent	SNP	1.000	A	A	25266734	C	A	25266734	2	1	147	1	0	0	0	0	0	0	0	1	1123	903	32	3		3	ATP12A	13	25266734	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1354861	25266734	89903144	770	24024										
CDK8	1024	genome.wustl.edu	37	chr13	26974624	26974624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taccatggacccaataaagcGaattacctcagaacaggcta	7	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:26974624G>A	ENST00000381527.3	+	10	1471	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAATAAAGCGAATTACCTCA	0.428																																																	0													215	199	205					13																	26974624		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.968G>A	13.37:g.26974624G>A	ENSP00000370938:p.Arg323Gln		Q5VUF3|Q6ISB5	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.R323Q	ENST00000381527.3	37	c.968	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.895298	0.97074	.	.	ENSG00000132964	ENST00000381527	T	0.74632	-0.86	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94753	0.7929	10	0.87932	D	0	-7.1016	20.0479	0.97616	0.0:0.0:1.0:0.0	.	323;323	P49336-2;P49336	.;CDK8_HUMAN	Q	323	ENSP00000370938:R323Q	ENSP00000370938:R323Q	R	+	2	0	CDK8	25872624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.750000	0.94351	0.650000	0.86243	CGA	CDK8	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.428	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	G			26974624	1	no_errors	ENST00000381527	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26974624	G	A	26974624	3	1	147	1	0	0	0	0	1	0	0	0	3155	1058	37	1	1006	1	CDK8	13	26974624	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1707890	26974624	88195254	771	24025										
KATNAL1	84056	genome.wustl.edu	37	chr13	30805526	30805526	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtgtagaagacgaaacgttGaagaatgttgtaccacattc	10	6	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:30805526G>A	ENST00000380615.3	-	7	977	c.810C>T	c.(808-810)ttC>ttT	p.F270F	KATNAL1_ENST00000380617.3_Silent_p.F270F	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ACGAAACGTTGAAGAATGTTG	0.413																																																	0													113	97	102					13																	30805526		2203	4300	6503	SO:0001819	synonymous_variant	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.810C>T	13.37:g.30805526G>A				Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.F270	ENST00000380615.3	37	c.810	CCDS31956.1	13																																																																																			KATNAL1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.413	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	G	NM_032116		30805526	-1	no_errors	ENST00000380615	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30805526	G	A	30805526	2	1	147	1	0	0	0	0	0	0	0	1	8005	1281	45	1		1	KATNAL1	13	30805526	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3830902	30805526	84364352	772	24026										
KATNAL1	84056	genome.wustl.edu	37	chr13	30829630	30829630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtccttgtccctacttgtaGaaggcttttcactctttgat	7	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:30829630G>C	ENST00000380615.3	-	4	613	c.446C>G	c.(445-447)tCt>tGt	p.S149C	KATNAL1_ENST00000380617.3_Missense_Mutation_p.S149C	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CCTACTTGTAGAAGGCTTTTC	0.488																																																	0													337	328	331					13																	30829630		2203	4300	6503	SO:0001583	missense	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.446C>G	13.37:g.30829630G>C	ENSP00000369989:p.Ser149Cys			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.S149C	ENST00000380615.3	37	c.446	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161590	0.38119	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.94613	-3.47;-3.47	5.05	5.05	0.67936	.	0.734859	0.13750	N	0.365351	D	0.91666	0.7366	N	0.14661	0.345	0.23309	N	0.997936	B	0.20261	0.043	B	0.35073	0.195	D	0.84937	0.0863	10	0.62326	D	0.03	-0.2906	18.4094	0.90546	0.0:0.0:1.0:0.0	.	149	Q9BW62	KATL1_HUMAN	C	149	ENSP00000369989:S149C;ENSP00000369991:S149C	ENSP00000369989:S149C	S	-	2	0	KATNAL1	29727630	0.071000	0.21146	0.069000	0.20011	0.701000	0.40568	2.882000	0.48546	2.340000	0.79590	0.650000	0.86243	TCT	KATNAL1	-	NULL		0.488	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	G	NM_032116		30829630	-1	no_errors	ENST00000380615	ensembl	human	known	70_37	missense	SNP	0.351	C	C	30829630	G	C	30829630	3	2	147	1	0	0	0	0	1	0	0	0	8005	942	33	1	1058	1	KATNAL1	13	30829630	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	24104	30829630	84340248	773	24027										
HSPH1	10808	genome.wustl.edu	37	chr13	31717984	31717984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taagttcaggtgaagggggaGactgtgaggtttgttgagca	17	3	1	4	rs201014398		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:31717984G>C	ENST00000320027.5	-	12	2005	c.1661C>G	c.(1660-1662)tCt>tGt	p.S554C	HSPH1_ENST00000380406.5_Missense_Mutation_p.S513C|HSPH1_ENST00000380405.4_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.S556C|HSPH1_ENST00000429785.2_Missense_Mutation_p.S373C	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	554					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGAAGGGGGAGACTGTGAGGT	0.438																																																	0													228	208	214					13																	31717984		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1661C>G	13.37:g.31717984G>C	ENSP00000318687:p.Ser554Cys		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.S556C	ENST00000320027.5	37	c.1667	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855506	0.32791	.	.	ENSG00000120694	ENST00000320027;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T	0.04917	4.93;4.84;4.79;3.53	5.75	4.87	0.63330	.	0.193203	0.44483	D	0.000441	T	0.04907	0.0132	N	0.10809	0.05	0.43583	D	0.995927	B;B;B;B	0.14805	0.011;0.001;0.006;0.006	B;B;B;B	0.15870	0.014;0.007;0.014;0.009	T	0.47315	-0.9127	10	0.44086	T	0.13	-20.8852	16.7961	0.85602	0.0:0.139:0.861:0.0	.	373;513;556;554	B4DY72;Q92598-3;B4DYH1;Q92598	.;.;.;HS105_HUMAN	C	554;513;556;373;605	ENSP00000318687:S554C;ENSP00000369769:S513C;ENSP00000396090:S556C;ENSP00000388778:S373C	ENSP00000318687:S554C	S	-	2	0	HSPH1	30615984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.045000	0.64220	2.716000	0.92895	0.655000	0.94253	TCT	HSPH1	-	pfam_Hsp_70_fam		0.438	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	G			31717984	-1	no_errors	ENST00000445273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31717984	G	C	31717984	3	2	147	1	0	0	0	0	1	0	0	0	7451	942	33	1	943	1	HSPH1	13	31717984	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	888354	31717984	83451894	774	24028										
FRY	10129	genome.wustl.edu	37	chr13	32729667	32729667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggcattcttggtcatagctGatagcttgcagcagaaagat	12	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:32729667G>C	ENST00000380250.3	+	15	2015	c.1519G>C	c.(1519-1521)Gat>Cat	p.D507H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	507						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGTCATAGCTGATAGCTTGCA	0.413																																																	0													84	82	83					13																	32729667		1863	4096	5959	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1519G>C	13.37:g.32729667G>C	ENSP00000369600:p.Asp507His		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D507H	ENST00000380250.3	37	c.1519	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732075	0.89390	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.25414	1.8	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.77820	2.39	0.80722	D	1	P	0.41420	0.749	P	0.48304	0.573	T	0.49351	-0.8949	10	0.87932	D	0	.	18.9901	0.92788	0.0:0.0:1.0:0.0	.	507	Q5TBA9	FRY_HUMAN	H	507;435	ENSP00000369600:D507H	ENSP00000267067:D435H	D	+	1	0	FRY	31627667	1.000000	0.71417	0.597000	0.28824	0.987000	0.75469	9.869000	0.99810	2.557000	0.86248	0.563000	0.77884	GAT	FRY	-	superfamily_ARM-type_fold		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32729667	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32729667	G	C	32729667	3	2	147	1	0	0	0	0	1	0	0	0	6081	1290	45	1	1577	1	FRY	13	32729667	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1011683	32729667	82440211	775	24029										
FRY	10129	genome.wustl.edu	37	chr13	32835906	32835906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggactccgatgaatcatccGaggaggaggacctcacagcc	12	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:32835906G>A	ENST00000380250.3	+	52	8066	c.7570G>A	c.(7570-7572)Gag>Aag	p.E2524K	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2524						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGAATCATCCGAGGAGGAGGA	0.498																																																	0													55	59	58					13																	32835906		1981	4174	6155	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7570G>A	13.37:g.32835906G>A	ENSP00000369600:p.Glu2524Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2524K	ENST00000380250.3	37	c.7570	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.954320	0.97139	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.31247	1.5	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.63945	-0.6522	10	0.72032	D	0.01	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	305;2524	Q8NB82;Q5TBA9	.;FRY_HUMAN	K	2524;168	ENSP00000369600:E2524K	ENSP00000369567:E168K	E	+	1	0	FRY	31733906	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	9.746000	0.98859	2.702000	0.92279	0.655000	0.94253	GAG	FRY	-	NULL		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32835906	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32835906	G	A	32835906	3	1	147	1	0	0	0	0	1	0	0	0	6081	1059	37	1	7776	1	FRY	13	32835906	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	106239	32835906	82333972	776	24030										
BRCA2	675	genome.wustl.edu	37	chr13	32914967	32914967	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccatatctctctcaatttCaacaagacaaacaacagttg	3	12	3	1	rs398122558		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:32914967C>T	ENST00000380152.3	+	11	6708	c.6475C>T	c.(6475-6477)Caa>Taa	p.Q2159*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q2159*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2159					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Q2159*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTCAATTTCAACAAGACAA	0.313			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Nonsense(2)	skin(2)											41	42	42					13																	32914967		2203	4296	6499	SO:0001587	stop_gained	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6475C>T	13.37:g.32914967C>T	ENSP00000369497:p.Gln2159*		O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.Q2159*	ENST00000380152.3	37	c.6475	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.812620	0.99471	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.34	1.51	0.23008	.	0.270733	0.31797	N	0.007052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5626	0.27860	0.5028:0.4215:0.0757:0.0	.	.	.	.	X	2159	.	ENSP00000369497:Q2159X	Q	+	1	0	BRCA2	31812967	0.815000	0.29118	0.004000	0.12327	0.030000	0.12068	0.496000	0.22499	0.033000	0.15463	-0.335000	0.08231	CAA	BRCA2	-	pirsf_BRCA2		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	C	NM_000059		32914967	1	no_errors	ENST00000380152	ensembl	human	known	70_37	nonsense	SNP	0.190	T	T	32914967	C	T	32914967	4	4	147	1	0	0	0	0	0	1	0	0	1502	827	29	1	6513	1	BRCA2	13	32914967	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	79061	32914967	82254911	777	24031										
N4BP2L2	10443	genome.wustl.edu	37	chr13	33110303	33110303	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaatctctgaatgtttaaatGatagttcaaactgggaagag	10	4	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:33110303G>C	ENST00000267068.3	-	2	1026	c.862C>G	c.(862-864)Cat>Gat	p.H288D	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.H288D|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	288					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGTTTAAATGATAGTTCAAA	0.373																																																	0													59	59	59					13																	33110303		2203	4300	6503	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.862C>G	13.37:g.33110303G>C	ENSP00000267068:p.His288Asp		A3KME8	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.H288D	ENST00000267068.3	37	c.862	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357746	0.41801	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.50548	0.78;0.74;0.76	4.63	4.63	0.57726	.	.	.	.	.	T	0.59569	0.2203	L	0.59436	1.845	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.54544	0.755;0.755	T	0.65582	-0.6133	9	0.72032	D	0.01	-4.1963	17.5165	0.87775	0.0:0.0:1.0:0.0	.	288;288	D6R968;Q92802	.;N42L2_HUMAN	D	288	ENSP00000394239:H288D;ENSP00000423362:H288D;ENSP00000267068:H288D	ENSP00000267068:H288D	H	-	1	0	N4BP2L2	32008303	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.658000	0.68003	2.116000	0.64780	0.557000	0.71058	CAT	N4BP2L2	-	NULL		0.373	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1	G	NM_014887		33110303	-1	no_errors	ENST00000267068	ensembl	human	known	70_37	missense	SNP	0.997	C	C	33110303	G	C	33110303	3	2	147	1	0	0	0	0	1	0	0	0	10135	1290	45	1	2770	1	N4BP2L2	13	33110303	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	195336	33110303	82059575	778	24032										
MAB21L1	4081	genome.wustl.edu	37	chr13	36050012	36050012	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcagtgagccatcgtccacGaagttgaacacccccatttg	10	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:36050012G>A	ENST00000379919.4	-	1	820	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	88					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CATCGTCCACGAAGTTGAACA	0.577																																																	0													83	83	83					13																	36050012		2203	4300	6503	SO:0001819	synonymous_variant	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.264C>T	13.37:g.36050012G>A			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.F88	ENST00000379919.4	37	c.264	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom		0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	G	NM_005584		36050012	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36050012	G	A	36050012	2	1	147	1	0	0	0	0	0	0	0	1	9164	1049	37	1		1	MAB21L1	13	36050012	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2939709	36050012	79119866	779	24033										
TRPC4	7223	genome.wustl.edu	37	chr13	38211095	38211095	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgtgtctgggaggtttagaTcatagtctatactagagtcc	11	7	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:38211095T>A	ENST00000379705.3	-	11	3736	c.2879A>T	c.(2878-2880)gAt>gTt	p.D960V	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.D787V|TRPC4_ENST00000379681.3_Missense_Mutation_p.D965V|TRPC4_ENST00000358477.2_Missense_Mutation_p.D876V|TRPC4_ENST00000338947.5_Missense_Mutation_p.D787V|TRPC4_ENST00000447043.1_Missense_Mutation_p.D819V|TRPC4_ENST00000355779.2_Missense_Mutation_p.D819V|TRPC4_ENST00000379673.2_Missense_Mutation_p.D811V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	960	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGGTTTAGATCATAGTCTAT	0.438																																																	0													150	135	140					13																	38211095		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2879A>T	13.37:g.38211095T>A	ENSP00000369027:p.Asp960Val		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.D965V	ENST00000379705.3	37	c.2894	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	T	8.978	0.974519	0.18736	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.74842	-0.39;-0.39;-0.2;-0.2;-0.38;-0.54;-0.88;-0.38	5.67	5.67	0.87782	.	1.063820	0.07266	N	0.868307	T	0.78742	0.4331	N	0.19112	0.55	0.58432	D	0.999999	B;P;D;B;P;B	0.56968	0.039;0.665;0.978;0.069;0.867;0.041	B;B;D;B;P;B	0.71184	0.116;0.38;0.972;0.037;0.58;0.017	T	0.69712	-0.5071	10	0.87932	D	0	-24.9903	11.1994	0.48733	0.0:0.0:0.1531:0.8469	.	819;811;965;787;876;960	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	960;965;787;787;819;876;811;819	ENSP00000369027:D960V;ENSP00000369003:D965V;ENSP00000342580:D787V;ENSP00000369001:D787V;ENSP00000348025:D819V;ENSP00000351264:D876V;ENSP00000368995:D811V;ENSP00000414316:D819V	ENSP00000342580:D787V	D	-	2	0	TRPC4	37109095	0.987000	0.35691	0.586000	0.28679	0.005000	0.04900	2.523000	0.45580	2.174000	0.68829	0.533000	0.62120	GAT	TRPC4	-	NULL		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	T	NM_003306		38211095	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	missense	SNP	0.637	A	A	38211095	T	A	38211095	3	1	147	1	0	0	0	0	1	0	0	0	16611	1435	50	5	58	5	TRPC4	13	38211095	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	2161083	38211095	76958783	780	24034										
TRPC4	7223	genome.wustl.edu	37	chr13	38225483	38225483	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atccatttgatcaggtaccaGagagacttggggctcgggat	13	8	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:38225483G>C	ENST00000379705.3	-	8	2855	c.1998C>G	c.(1996-1998)ctC>ctG	p.L666L	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Silent_p.L493L|TRPC4_ENST00000379681.3_Silent_p.L666L|TRPC4_ENST00000358477.2_Silent_p.L666L|TRPC4_ENST00000338947.5_Silent_p.L493L|TRPC4_ENST00000447043.1_Silent_p.L666L|TRPC4_ENST00000355779.2_Silent_p.L666L|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	666	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L666L(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCAGGTACCAGAGAGACTTGG	0.423																																																	2	Substitution - coding silent(2)	lung(2)											133	130	131					13																	38225483		2203	4300	6503	SO:0001819	synonymous_variant	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1998C>G	13.37:g.38225483G>C			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.L666	ENST00000379705.3	37	c.1998	CCDS9365.1	13																																																																																			TRPC4	-	tigrfam_TRP_channel		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	G	NM_003306		38225483	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	silent	SNP	0.273	C	C	38225483	G	C	38225483	2	2	147	1	0	0	0	0	0	0	0	1	16611	929	33	1		1	TRPC4	13	38225483	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	14388	38225483	76944395	781	24035										
FOXO1	2308	genome.wustl.edu	37	chr13	41134033	41134033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggacgcccgttaactgcaGatgtctgctgagcatgtcca	13	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:41134033G>A	ENST00000379561.5	-	2	1979	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	532	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTAACTGCAGATGTCTGCTG	0.557																																																	0													133	122	126					13																	41134033		2203	4300	6503	SO:0001583	missense	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1595C>T	13.37:g.41134033G>A	ENSP00000368880:p.Ser532Phe		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S532F	ENST00000379561.5	37	c.1595	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231987	0.22626	.	.	ENSG00000150907	ENST00000379561	D	0.94417	-3.42	5.87	5.87	0.94306	.	0.534882	0.21287	N	0.077045	D	0.93128	0.7812	L	0.54323	1.7	0.22710	N	0.998828	B	0.24368	0.102	B	0.24541	0.054	D	0.84234	0.0468	10	0.39692	T	0.17	-5.7715	19.2063	0.93732	0.0:0.0:1.0:0.0	.	532	Q12778	FOXO1_HUMAN	F	532	ENSP00000368880:S532F	ENSP00000368880:S532F	S	-	2	0	FOXO1	40032033	1.000000	0.71417	0.011000	0.14972	0.398000	0.30690	3.440000	0.52886	2.785000	0.95823	0.655000	0.94253	TCT	FOXO1	-	NULL		0.557	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	G	NM_002015		41134033	-1	no_errors	ENST00000379561	ensembl	human	known	70_37	missense	SNP	0.496	A	A	41134033	G	A	41134033	3	1	147	1	0	0	0	0	1	0	0	0	6041	942	33	1	376	1	FOXO1	13	41134033	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2908550	41134033	74035845	782	24036										
KBTBD7	84078	genome.wustl.edu	37	chr13	41766989	41766989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atagaaggaatgagggacagGagccaccaatgcccactggt	13	9	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:41766989G>A	ENST00000379483.3	-	1	1713	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	469										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGAGGGACAGGAGCCACCAAT	0.448																																																	0													85	78	80					13																	41766989		2203	4300	6503	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1405C>T	13.37:g.41766989G>A	ENSP00000368797:p.Pro469Ser		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P469S	ENST00000379483.3	37	c.1405	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	G	4.312	0.057155	0.08339	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.75589	-0.95	5.5	4.66	0.58398	Kelch-type beta propeller (1);	0.067898	0.64402	D	0.000014	T	0.65238	0.2672	L	0.41415	1.275	0.48762	D	0.999707	B	0.24426	0.103	B	0.23574	0.047	T	0.60561	-0.7239	10	0.32370	T	0.25	.	12.1333	0.53955	0.0837:0.0:0.9163:0.0	.	469	Q8WVZ9	KBTB7_HUMAN	S	469;371	ENSP00000368797:P469S	ENSP00000368797:P469S	P	-	1	0	KBTBD7	40664989	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	5.471000	0.66762	1.315000	0.45114	-0.145000	0.13849	CCT	KBTBD7	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	G	NM_032138		41766989	-1	no_errors	ENST00000379483	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41766989	G	A	41766989	3	1	147	1	0	0	0	0	1	0	0	0	8018	1174	41	1	653	1	KBTBD7	13	41766989	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	632956	41766989	73402889	783	24037										
SERP2	387923	genome.wustl.edu	37	chr13	44948221	44948221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacagcaaaaacatcacccaGagggggaacgtagccaaaac	9	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:44948221G>A	ENST00000379179.3	+	1	244	c.60G>A	c.(58-60)caG>caA	p.Q20Q		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	20					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		ACATCACCCAGAGGGGGAACG	0.662																																																	0													65	51	55					13																	44948221		2201	4300	6501	SO:0001819	synonymous_variant	387923			BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 21"	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.60G>A	13.37:g.44948221G>A				Silent	SNP	pfam_ER_stress-assoc_Ramp4	p.Q20	ENST00000379179.3	37	c.60	CCDS31965.1	13																																																																																			SERP2	-	pfam_ER_stress-assoc_Ramp4		0.662	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP2	HGNC	protein_coding	OTTHUMT00000044736.1	G	NM_001010897		44948221	1	no_errors	ENST00000493476	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44948221	G	A	44948221	2	1	147	1	0	0	0	0	0	0	0	1	14115	933	33	1		1	SERP2	13	44948221	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3181232	44948221	70221657	784	24038										
CAB39L	81617	genome.wustl.edu	37	chr13	49933878	49933878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagcataaacaggatatgagGatgagcactaatatactcca	9	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:49933878G>A	ENST00000355854.4	-	4	864	c.367C>T	c.(367-369)Cct>Tct	p.P123S	CAB39L_ENST00000347776.5_Missense_Mutation_p.P123S|CAB39L_ENST00000409308.1_Missense_Mutation_p.P123S|CAB39L_ENST00000410043.1_Missense_Mutation_p.P123S	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	123					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AGGATATGAGGATGAGCACTA	0.388																																																	0													166	148	154					13																	49933878		2203	4300	6503	SO:0001583	missense	81617			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.367C>T	13.37:g.49933878G>A	ENSP00000348113:p.Pro123Ser		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.P123S	ENST00000355854.4	37	c.367	CCDS9416.2	13	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924033	0.73213	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.052869	0.85682	D	0.000000	T	0.40839	0.1133	M	0.67625	2.065	0.80722	D	1	B	0.18013	0.025	B	0.21546	0.035	T	0.21245	-1.0251	9	.	.	.	-9.7138	18.1237	0.89579	0.0:0.0:1.0:0.0	.	123	Q9H9S4	CB39L_HUMAN	S	123;123;120;123;86;123;123;123	ENSP00000348113:P123S;ENSP00000261669:P123S;ENSP00000386375:P123S;ENSP00000416719:P86S;ENSP00000386328:P123S;ENSP00000409253:P123S;ENSP00000404028:P123S	.	P	-	1	0	CAB39L	48831879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.641000	0.98458	2.507000	0.84556	0.563000	0.77884	CCT	CAB39L	-	pfam_Mo25,superfamily_ARM-type_fold		0.388	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3	G	NM_030925		49933878	-1	no_errors	ENST00000347776	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49933878	G	A	49933878	3	1	147	1	0	0	0	0	1	0	0	0	2531	1174	41	1	670	1	CAB39L	13	49933878	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4985657	49933878	65236000	785	24039										
KPNA3	3839	genome.wustl.edu	37	chr13	50275977	50275977	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgaaggttggctgttggatCaaaattgtaggtacctcctt	11	6	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:50275977C>G	ENST00000261667.3	-	17	1939	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	509					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GCTGTTGGATCAAAATTGTAG	0.363																																																	0													164	181	176					13																	50275977		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1525G>C	13.37:g.50275977C>G	ENSP00000261667:p.Asp509His		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D509H	ENST00000261667.3	37	c.1525	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737185	0.89482	.	.	ENSG00000102753	ENST00000261667	T	0.29917	1.55	6.17	6.17	0.99709	.	0.042170	0.85682	D	0.000000	T	0.48132	0.1483	M	0.63843	1.955	0.80722	D	1	P	0.37466	0.596	P	0.47470	0.548	T	0.28459	-1.0043	10	0.59425	D	0.04	-13.9303	20.8794	0.99867	0.0:1.0:0.0:0.0	.	509	O00505	IMA3_HUMAN	H	509	ENSP00000261667:D509H	ENSP00000261667:D509H	D	-	1	0	KPNA3	49173978	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.868000	0.63021	2.941000	0.99782	0.655000	0.94253	GAT	KPNA3	-	NULL		0.363	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	C	NM_002267		50275977	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50275977	C	G	50275977	3	3	147	1	0	0	0	0	1	0	0	0	8451	826	29	1	44	1	KPNA3	13	50275977	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	342099	50275977	64893901	786	24040										
INTS6	26512	genome.wustl.edu	37	chr13	51943132	51943132	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttagttcagtattgacctCttcatggcttctgcaatgca	7	9	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:51943132C>T	ENST00000311234.4	-	16	2891	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	INTS6_ENST00000425000.1_Missense_Mutation_p.E375K|INTS6_ENST00000490542.1_Missense_Mutation_p.E491K|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.E794K|INTS6_ENST00000497989.1_Missense_Mutation_p.E629K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	807					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTATTGACCTCTTCATGGCTT	0.383																																																	0													152	141	144					13																	51943132		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2419G>A	13.37:g.51943132C>T	ENSP00000310260:p.Glu807Lys		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.E807K	ENST00000311234.4	37	c.2419	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358422	0.24598	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.22	5.22	0.72569	.	0.255861	0.45126	D	0.000381	T	0.55000	0.1893	L	0.47716	1.5	0.80722	D	1	B	0.16396	0.017	B	0.15484	0.013	T	0.52155	-0.8613	9	0.11485	T	0.65	-12.3447	17.7763	0.88510	0.0:1.0:0.0:0.0	.	807	Q9UL03	INT6_HUMAN	K	807;794;629;375;491	.	ENSP00000310260:E807K	E	-	1	0	INTS6	50841133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.267000	0.65530	2.420000	0.82092	0.557000	0.71058	GAG	INTS6	-	NULL		0.383	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	C	NM_012141		51943132	-1	no_errors	ENST00000311234	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51943132	C	T	51943132	3	4	147	1	0	0	0	0	1	0	0	0	7802	922	32	1	256	1	INTS6	13	51943132	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1667155	51943132	63226746	787	24041										
THSD1	55901	genome.wustl.edu	37	chr13	52971931	52971931	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggaaacgggcacagtggttGactggtaaataggcccactt	13	8	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:52971931G>T	ENST00000258613.4	-	3	635	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.Q153K|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	153					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CACAGTGGTTGACTGGTAAAT	0.502																																																	0													104	91	95					13																	52971931		2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.457C>A	13.37:g.52971931G>T	ENSP00000258613:p.Gln153Lys		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Q153K	ENST00000258613.4	37	c.457	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105561	0.20632	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17691	2.26;2.45	5.54	4.69	0.59074	.	0.065424	0.64402	D	0.000013	T	0.23965	0.0580	M	0.70595	2.14	0.80722	D	1	B;B	0.30914	0.3;0.245	B;B	0.33454	0.164;0.118	T	0.02581	-1.1138	10	0.48119	T	0.1	-12.767	14.4043	0.67071	0.0:0.4109:0.5891:0.0	.	153;153	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	K	153	ENSP00000340650:Q153K;ENSP00000258613:Q153K	ENSP00000258613:Q153K	Q	-	1	0	THSD1	51869932	0.997000	0.39634	0.024000	0.17045	0.030000	0.12068	3.358000	0.52284	1.322000	0.45245	0.561000	0.74099	CAA	THSD1	-	NULL		0.502	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	G			52971931	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	missense	SNP	0.956	T	T	52971931	G	T	52971931	3	4	147	1	0	0	0	0	1	0	0	0	15907	1299	45	3	2113	3	THSD1	13	52971931	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1028799	52971931	62197947	788	24042										
SLITRK1	114798	genome.wustl.edu	37	chr13	84455448	84455448	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgagtgagggaattgccatgCagaaataaatggtaaaactg	12	5	0	2	rs368351965		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:84455448C>A	ENST00000377084.2	-	1	1080	c.195G>T	c.(193-195)ctG>ctT	p.L65L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	65					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATTGCCATGCAGAAATAAAT	0.433																																																	0													72	73	72					13																	84455448		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.195G>T	13.37:g.84455448C>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L65	ENST00000377084.2	37	c.195	CCDS9464.1	13																																																																																			SLITRK1	-	NULL		0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	C	NM_052910		84455448	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A	A	84455448	C	A	84455448	2	1	147	1	0	0	0	0	0	0	0	1	14772	697	25	4		4	SLITRK1	13	84455448	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	31483517	84455448	30714430	789	24043										
DOCK9	23348	genome.wustl.edu	37	chr13	99540624	99540624	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcacactcaccttggcaaaaGacttctgactgtcgtatttc	6	12	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:99540624G>C	ENST00000376460.1	-	17	2047	c.1967C>G	c.(1966-1968)tCt>tGt	p.S656C	DOCK9_ENST00000442173.1_Missense_Mutation_p.S656C|DOCK9_ENST00000339416.2_Missense_Mutation_p.S657C|DOCK9_ENST00000448493.2_Missense_Mutation_p.S668C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	657	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGGCAAAAGACTTCTGACT	0.403																																																	0													173	165	168					13																	99540624		1935	4125	6060	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1967C>G	13.37:g.99540624G>C	ENSP00000365643:p.Ser656Cys		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S657C	ENST00000376460.1	37	c.1970	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710678	0.48517	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.67	5.67	0.87782	.	0.115830	0.64402	D	0.000009	T	0.12390	0.0301	N	0.12182	0.205	0.58432	D	0.999995	B;B;B;B;B	0.24092	0.004;0.097;0.003;0.001;0.02	B;B;B;B;B	0.26614	0.029;0.071;0.012;0.017;0.048	T	0.20672	-1.0268	9	.	.	.	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	657;656;656;656;657	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	C	656;657;657;657;656;657;668;656	ENSP00000365643:S656C;ENSP00000341086:S657C;ENSP00000401958:S668C;ENSP00000406883:S656C	.	S	-	2	0	DOCK9	98338625	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.430000	0.97488	2.680000	0.91292	0.655000	0.94253	TCT	DOCK9	-	NULL		0.403	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	G	NM_015296		99540624	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99540624	G	C	99540624	3	2	147	1	0	0	0	0	1	0	0	0	4704	942	33	1	4460	1	DOCK9	13	99540624	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	15085176	99540624	15629254	790	24044										
GPR18	2841	genome.wustl.edu	37	chr13	99907834	99907834	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtaaaacactgtgagagctCcaagaatctggcagaagtac	11	8	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:99907834C>G	ENST00000340807.3	-	3	849	c.293G>C	c.(292-294)gGa>gCa	p.G98A	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.G98A|GPR18_ENST00000397470.2_Missense_Mutation_p.G98A|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	98					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTGAGAGCTCCAAGAATCTG	0.398																																																	0													77	74	75					13																	99907834		2203	4300	6503	SO:0001583	missense	2841			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.293G>C	13.37:g.99907834C>G	ENSP00000343428:p.Gly98Ala		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.G98A	ENST00000340807.3	37	c.293	CCDS9491.1	13	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990424	0.54041	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.58060	1.14;1.14;1.14;0.36	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.056728	0.64402	D	0.000001	T	0.38639	0.1048	N	0.12422	0.21	0.52099	D	0.999946	B	0.26318	0.146	B	0.26864	0.074	T	0.18335	-1.0340	9	.	.	.	-7.7033	20.6593	0.99626	0.0:1.0:0.0:0.0	.	98	Q14330	GPR18_HUMAN	A	98	ENSP00000380613:G98A;ENSP00000380610:G98A;ENSP00000343428:G98A;ENSP00000401611:G98A	.	G	-	2	0	GPR18	98705835	0.981000	0.34729	1.000000	0.80357	0.973000	0.67179	3.892000	0.56235	2.885000	0.99019	0.655000	0.94253	GGA	GPR18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR18	HGNC	protein_coding	OTTHUMT00000045585.1	C			99907834	-1	no_errors	ENST00000340807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99907834	C	G	99907834	3	3	147	1	0	0	0	0	1	0	0	0	6694	855	30	1	706	1	GPR18	13	99907834	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	367210	99907834	15262044	791	24045										
POTEG	404785	genome.wustl.edu	37	chr14	19553485	19553485	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccatttggtctcagaagcaaGatgggcaagtggtgccgcca	13	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:19553485G>C	ENST00000409832.3	+	1	121	c.69G>C	c.(67-69)aaG>aaC	p.K23N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	23										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGAAGCAAGATGGGCAAGT	0.582																																																	0													3	4	4					14																	19553485		858	2010	2868	SO:0001583	missense	404785				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.69G>C	14.37:g.19553485G>C	ENSP00000386971:p.Lys23Asn		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K23N	ENST00000409832.3	37	c.69	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	g	9.186	1.024860	0.19433	.	.	ENSG00000222036	ENST00000409832	T	0.46819	0.86	.	.	.	.	.	.	.	.	T	0.50786	0.1636	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.36553	-0.9743	7	0.87932	D	0	.	.	.	.	.	23	Q6S5H5	POTEG_HUMAN	N	23	ENSP00000386971:K23N	ENSP00000386971:K23N	K	+	3	2	POTEG	18623485	0.005000	0.15991	0.007000	0.13788	0.006000	0.05464	0.582000	0.23834	0.459000	0.27016	0.152000	0.16155	AAG	POTEG	-	NULL		0.582	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	G	NM_001005356		19553485	1	no_errors	ENST00000409832	ensembl	human	known	70_37	missense	SNP	0.009	C	C	19553485	G	C	19553485	3	2	147	1	0	0	0	0	1	0	0	0	12290	933	33	1	71	1	POTEG	14	19553485	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		19553485	87796055	792	24046										
OR4K13	390433	genome.wustl.edu	37	chr14	20502384	20502384	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcacaaggggaaggtcacaGaaaaagctgtctataacatt	9	7	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:20502384G>T	ENST00000315693.2	-	1	535	c.534C>A	c.(532-534)ttC>ttA	p.F178L	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAAGGTCACAGAAAAAGCTGT	0.473																																																	0													134	126	128					14																	20502384		2203	4300	6503	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.534C>A	14.37:g.20502384G>T	ENSP00000319322:p.Phe178Leu		Q6IF13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F178L	ENST00000315693.2	37	c.534	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485798	0.44147	.	.	ENSG00000176253	ENST00000315693	T	0.00220	8.52	3.61	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	U	0.000977	T	0.00328	0.0010	M	0.74258	2.255	0.30306	N	0.788984	P	0.50943	0.94	P	0.55011	0.766	T	0.38564	-0.9655	10	0.87932	D	0	.	6.3743	0.21499	0.3309:0.0:0.6691:0.0	.	178	Q8NH42	OR4KD_HUMAN	L	178	ENSP00000319322:F178L	ENSP00000319322:F178L	F	-	3	2	OR4K13	19572224	0.992000	0.36948	0.993000	0.49108	0.279000	0.26890	0.102000	0.15272	0.229000	0.21039	0.514000	0.50259	TTC	OR4K13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	G			20502384	-1	no_errors	ENST00000315693	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20502384	G	T	20502384	3	4	147	1	0	0	0	0	1	0	0	0	11092	933	33	3	382	3	OR4K13	14	20502384	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	948899	20502384	86847156	793	24047										
TTC5	91875	genome.wustl.edu	37	chr14	20757805	20757805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcattcacactgtggtcgcGatgccactgtggcaacagcc	11	13	2	0	rs201731132		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:20757805G>A	ENST00000258821.3	-	10	1360	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	TTC5_ENST00000556592.1_5'Flank	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	435					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S435*(1)|p.S435W(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTGTGGTCGCGATGCCACTGT	0.567													G|||	1	0.000199681	0	0.0014	5008	,	,		19153	0		0	False		,,,				2504	0																2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)											90	67	75					14																	20757805		2203	4300	6503	SO:0001583	missense	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1304C>T	14.37:g.20757805G>A	ENSP00000258821:p.Ser435Leu		A8MQ18|Q96HF9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S435L	ENST00000258821.3	37	c.1304	CCDS9546.1	14	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.55	1.673190	0.29693	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	5.48	4.53	0.55603	.	0.127565	0.53938	D	0.000056	T	0.13457	0.0326	N	0.14661	0.345	0.34444	D	0.699904	B	0.33073	0.396	B	0.22753	0.041	T	0.15037	-1.0451	10	0.09084	T	0.74	.	10.7886	0.46419	0.0:0.0:0.7543:0.2457	.	435	Q8N0Z6	TTC5_HUMAN	L	435	ENSP00000258821:S435L	ENSP00000258821:S435L	S	-	2	0	TTC5	19827645	0.999000	0.42202	0.337000	0.25536	0.157000	0.22087	4.295000	0.59049	2.861000	0.98227	0.650000	0.86243	TCG	TTC5	-	NULL		0.567	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	G	NM_138376		20757805	-1	no_errors	ENST00000258821	ensembl	human	known	70_37	missense	SNP	0.738	A	A	20757805	G	A	20757805	3	1	147	1	0	0	0	0	1	0	0	0	16742	1059	37	1	22	1	TTC5	14	20757805	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	255421	20757805	86591735	794	24048										
TEP1	7011	genome.wustl.edu	37	chr14	20854746	20854746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgctccccatgcatgtctcgGaaagtggatgaaatgaaaag	11	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:20854746G>A	ENST00000262715.5	-	19	2761	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	TEP1_ENST00000556935.1_Silent_p.F799F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	907					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCATGTCTCGGAAAGTGGATG	0.597																																																	0													40	40	40					14																	20854746		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2721C>T	14.37:g.20854746G>A			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F907	ENST00000262715.5	37	c.2721	CCDS9548.1	14																																																																																			TEP1	-	NULL		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	G	NM_007110		20854746	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	silent	SNP	1.000	A	A	20854746	G	A	20854746	2	1	147	1	0	0	0	0	0	0	0	1	15789	1165	41	1		1	TEP1	14	20854746	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	96941	20854746	86494794	795	24049										
OR10G2	26534	genome.wustl.edu	37	chr14	22102290	22102290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaggcccggcgcctcccatCagcggtgcgtatcttcagga	13	14	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:22102290C>T	ENST00000542433.1	-	1	806	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CGCCTCCCATCAGCGGTGCGT	0.542																																																	0													37	39	39					14																	22102290		2186	4253	6439	SO:0001583	missense	26534				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.709G>A	14.37:g.22102290C>T	ENSP00000445383:p.Asp237Asn		B2RPD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D237N	ENST00000542433.1	37	c.709	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081269	0.20309	.	.	ENSG00000255582	ENST00000542433	T	0.00115	8.71	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.645425	0.13545	N	0.379926	T	0.00144	0.0004	N	0.26042	0.785	0.24797	N	0.992727	B	0.18610	0.029	B	0.24269	0.052	T	0.44544	-0.9321	10	0.72032	D	0.01	-1.6495	13.4661	0.61254	0.0:1.0:0.0:0.0	.	237	Q8NGC3	O10G2_HUMAN	N	237	ENSP00000445383:D237N	ENSP00000445383:D237N	D	-	1	0	OR10G2	21172130	0.001000	0.12720	0.996000	0.52242	0.290000	0.27261	0.325000	0.19628	2.027000	0.59764	0.557000	0.71058	GAT	OR10G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	C			22102290	-1	no_errors	ENST00000542433	ensembl	human	known	70_37	missense	SNP	0.772	T	T	22102290	C	T	22102290	3	4	147	1	0	0	0	0	1	0	0	0	10923	826	29	1	226	1	OR10G2	14	22102290	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1247544	22102290	85247250	796	24050										
PRMT5	10419	genome.wustl.edu	37	chr14	23392312	23392312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggacctcattgtacagcttgGaggaagagatgggagccaga	15	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:23392312G>A	ENST00000324366.8	-	13	1656	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.S372F|PRMT5_ENST00000397441.2_Missense_Mutation_p.S461F|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.S417F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.S307F|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.S434F	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	478	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GTACAGCTTGGAGGAAGAGAT	0.512																																																	0													62	54	57					14																	23392312		2203	4300	6503	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1433C>T	14.37:g.23392312G>A	ENSP00000319169:p.Ser478Phe		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.S478F	ENST00000324366.8	37	c.1433	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906367	0.92107	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.89601	3.045	0.80722	D	1	D;P;D;D;D	0.62365	0.981;0.939;0.967;0.991;0.966	P;P;P;P;P	0.61201	0.783;0.733;0.885;0.87;0.805	T	0.60637	-0.7224	10	0.62326	D	0.03	-16.5383	18.837	0.92167	0.0:0.0:1.0:0.0	.	434;417;307;478;461	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	F	478;461;307;417;77;372;434	ENSP00000319169:S478F;ENSP00000380583:S461F;ENSP00000380582:S307F;ENSP00000216350:S417F;ENSP00000451245:S77F;ENSP00000444915:S372F;ENSP00000452555:S434F	ENSP00000216350:S417F	S	-	2	0	PRMT5	22462152	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	8.860000	0.92272	2.826000	0.97356	0.561000	0.74099	TCC	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5		0.512	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	G			23392312	-1	no_errors	ENST00000324366	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23392312	G	A	23392312	3	1	147	1	0	0	0	0	1	0	0	0	12566	1174	41	1	500	1	PRMT5	14	23392312	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1290022	23392312	83957228	797	24051										
MYH6	4624	genome.wustl.edu	37	chr14	23863481	23863481	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcttcatccagggccaattCttgacccccatgaaggcccg	9	15	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:23863481C>G	ENST00000356287.3	-	20	2510	c.2481G>C	c.(2479-2481)aaG>aaC	p.K827N	MYH6_ENST00000405093.3_Missense_Mutation_p.K827N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	827					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGGCCAATTCTTGACCCCCA	0.557																																																	0													81	76	78					14																	23863481		2203	4297	6500	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2481G>C	14.37:g.23863481C>G	ENSP00000348634:p.Lys827Asn		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K827N	ENST00000356287.3	37	c.2481	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	18.47	3.630424	0.67015	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.76186	-1.0;-1.0	4.57	4.57	0.56435	.	.	.	.	.	D	0.88797	0.6534	H	0.94847	3.59	0.54753	D	0.999981	D	0.76494	0.999	D	0.87578	0.998	D	0.90954	0.4807	9	0.87932	D	0	.	11.2931	0.49263	0.0:0.9157:0.0:0.0843	.	827	P13533	MYH6_HUMAN	N	827	ENSP00000386041:K827N;ENSP00000348634:K827N	ENSP00000348634:K827N	K	-	3	2	MYH6	22933321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.768000	0.38511	2.274000	0.75844	0.555000	0.69702	AAG	MYH6	-	NULL		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23863481	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23863481	C	G	23863481	3	3	147	1	0	0	0	0	1	0	0	0	10061	912	32	1	3414	1	MYH6	14	23863481	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	471169	23863481	83486059	798	24052										
IPO4	79711	genome.wustl.edu	37	chr14	24650921	24650921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtctccctccctcacctggGgctctggtttcctggtggga	12	14	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:24650921G>A	ENST00000354464.6	-	27	3112	c.2936C>T	c.(2935-2937)cCc>cTc	p.P979L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	979					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCACCTGGGGCTCTGGTTT	0.632																																																	0													74	82	80					14																	24650921		2065	4204	6269	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2936C>T	14.37:g.24650921G>A	ENSP00000346453:p.Pro979Leu		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.P979L	ENST00000354464.6	37	c.2936	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340632	0.41498	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.68479	-0.33	5.44	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);	0.368899	0.28301	N	0.015847	T	0.58652	0.2137	L	0.40543	1.245	0.39656	D	0.970542	B;B	0.32101	0.294;0.356	B;B	0.36922	0.119;0.236	T	0.57825	-0.7744	10	0.33940	T	0.23	-24.8914	11.6425	0.51242	0.0:0.0:0.8241:0.1759	.	979;979	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	L	979;655	ENSP00000346453:P979L	ENSP00000346453:P979L	P	-	2	0	IPO4	23720761	0.911000	0.30947	1.000000	0.80357	0.658000	0.38924	0.913000	0.28611	2.837000	0.97791	0.655000	0.94253	CCC	IPO4	-	superfamily_ARM-type_fold		0.632	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	G	NM_024658		24650921	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	missense	SNP	0.622	A	A	24650921	G	A	24650921	3	1	147	1	0	0	0	0	1	0	0	0	7815	1232	43	4	325	4	IPO4	14	24650921	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	787440	24650921	82698619	799	24053										
CIDEB	27141	genome.wustl.edu	37	chr14	24775198	24775198	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttgaaagtcacaactcataGagtagagcccgtagaatgtg	10	8	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:24775198G>C	ENST00000336557.5	-	7	1784	c.482C>G	c.(481-483)tCt>tGt	p.S161C	CIDEB_ENST00000554411.1_Missense_Mutation_p.S161C|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000258807.5_Missense_Mutation_p.S161C|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	161					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		ACAACTCATAGAGTAGAGCCC	0.483																																																	0													135	130	132					14																	24775198		2203	4300	6503	SO:0001583	missense	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.482C>G	14.37:g.24775198G>C	ENSP00000337731:p.Ser161Cys		D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	pfam_CAD,smart_CAD,pfscan_CAD	p.S161C	ENST00000336557.5	37	c.482	CCDS32056.1	14	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882110	0.72294	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	D;D;D	0.84370	-1.84;-1.84;-1.84	5.08	5.08	0.68730	.	0.171587	0.53938	D	0.000058	D	0.90837	0.7122	M	0.83774	2.66	0.80722	D	1	D	0.64830	0.994	P	0.54372	0.75	D	0.92287	0.5838	10	0.87932	D	0	-18.7211	17.4084	0.87480	0.0:0.0:1.0:0.0	.	161	Q9UHD4	CIDEB_HUMAN	C	161	ENSP00000451089:S161C;ENSP00000337731:S161C;ENSP00000258807:S161C	ENSP00000258807:S161C	S	-	2	0	CIDEB	23845038	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.531000	0.67148	2.654000	0.90174	0.563000	0.77884	TCT	CIDEB	-	NULL		0.483	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	G			24775198	-1	no_errors	ENST00000258807	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24775198	G	C	24775198	3	2	147	1	0	0	0	0	1	0	0	0	3431	942	33	1	185	1	CIDEB	14	24775198	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	124277	24775198	82574342	800	24054										
AKAP6	9472	genome.wustl.edu	37	chr14	33291487	33291487	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taatgaaacagtcacaaagcGaaaaagcgcatgtggaggat	11	6	1	1	rs374979745		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:33291487G>C	ENST00000280979.4	+	13	4638	c.4468G>C	c.(4468-4470)Gaa>Caa	p.E1490Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1490					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCACAAAGCGAAAAAGCGCA	0.353																																					Melanoma(49;821 1200 7288 13647 42351)												0													72	70	71					14																	33291487		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4468G>C	14.37:g.33291487G>C	ENSP00000280979:p.Glu1490Gln		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.E1490Q	ENST00000280979.4	37	c.4468	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788236	0.49997	.	.	ENSG00000151320	ENST00000280979	T	0.08282	3.11	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00435	-1.1741	10	0.87932	D	0	-18.0805	17.9955	0.89182	0.0:0.0:1.0:0.0	.	1490	Q13023	AKAP6_HUMAN	Q	1490	ENSP00000280979:E1490Q	ENSP00000280979:E1490Q	E	+	1	0	AKAP6	32361238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.394000	0.73223	2.685000	0.91497	0.655000	0.94253	GAA	AKAP6	-	NULL		0.353	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	G	NM_004274		33291487	1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33291487	G	C	33291487	3	2	147	1	0	0	0	0	1	0	0	0	455	1059	37	1	4514	1	AKAP6	14	33291487	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8516289	33291487	74058053	801	24055										
CTAGE5	4253	genome.wustl.edu	37	chr14	39736708	39736708	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaccgtatttggggctgctCctggaggagctacgcagggt	15	10	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:39736708C>T	ENST00000280083.3	+	1	359	c.45C>T	c.(43-45)ctC>ctT	p.L15L	CTAGE5_ENST00000348007.3_Silent_p.L15L|CTAGE5_ENST00000557038.1_Intron|RP11-407N17.3_ENST00000553728.1_Intron|CTAGE5_ENST00000341502.5_Silent_p.L15L|RP11-407N17.5_ENST00000553520.1_RNA|RP11-407N17.3_ENST00000603904.1_Intron|CTAGE5_ENST00000396158.2_Silent_p.L15L|RP11-407N17.5_ENST00000605298.1_RNA|CTAGE5_ENST00000556148.1_5'UTR|CTAGE5_ENST00000396165.4_Intron|CTAGE5_ENST00000341749.3_Intron			O15320	CTGE5_HUMAN	CTAGE family, member 5	15					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGGGGCTGCTCCTGGAGGAGC	0.667																																																	0													30	31	31					14																	39736708		2203	4300	6503	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.45C>T	14.37:g.39736708C>T			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.L15	ENST00000280083.3	37	c.45	CCDS9674.1	14																																																																																			CTAGE5	-	NULL		0.667	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39736708	1	no_errors	ENST00000396158	ensembl	human	known	70_37	silent	SNP	0.963	T	T	39736708	C	T	39736708	2	4	147	1	0	0	0	0	0	0	0	1	3999	842	30	1		1	CTAGE5	14	39736708	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6445221	39736708	67612832	802	24056										
C14orf104	55172	genome.wustl.edu	37	chr14	50101007	50101007	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagcgcaacagcggcagttcGatggtgatcaccagctcatg	13	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:50101007G>A	ENST00000298292.8	-	1	941	c.861C>T	c.(859-861)atC>atT	p.I287I	DNAAF2_ENST00000406043.3_Silent_p.I287I	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	287					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						GCGGCAGTTCGATGGTGATCA	0.657																																																	0													20	23	22					14																	50101007		2096	4178	6274	SO:0001819	synonymous_variant	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.861C>T	14.37:g.50101007G>A			B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	pfam_PIH	p.I287	ENST00000298292.8	37	c.861	CCDS9691.2	14																																																																																			DNAAF2	-	pfam_PIH		0.657	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50101007	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50101007	G	A	50101007	2	1	147	1	0	0	0	0	0	0	0	1	1740	1048	37	1		1	C14orf104	14	50101007	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	10364299	50101007	57248533	803	24057										
TRIM9	114088	genome.wustl.edu	37	chr14	51467440	51467440	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccatcatccagctccagaatGtatccatcggcgggcaccgt	9	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:51467440G>T	ENST00000298355.3	-	6	2546	c.1425C>A	c.(1423-1425)taC>taA	p.Y475*	TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Y471*|TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Y475*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	475	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTCCAGAATGTATCCATCGG	0.542																																																	0													93	83	86					14																	51467440		2203	4300	6503	SO:0001587	stop_gained	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1425C>A	14.37:g.51467440G>T	ENSP00000298355:p.Tyr475*		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y471*	ENST00000298355.3	37	c.1413	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	48	13.940363	0.99771	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	.	.	.	6.05	2.19	0.27852	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0296	0.47765	0.2376:0.0:0.7624:0.0	.	.	.	.	X	475;471;475	.	ENSP00000298355:Y475X	Y	-	3	2	TRIM9	50537190	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	3.457000	0.53007	0.452000	0.26830	0.650000	0.86243	TAC	TRIM9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51467440	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	51467440	G	T	51467440	4	4	147	1	0	0	0	0	0	1	0	0	16580	1372	48	4	777	4	TRIM9	14	51467440	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1366433	51467440	55882100	804	24058										
FERMT2	10979	genome.wustl.edu	37	chr14	53342042	53342042	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actgttgttcaaatgattctCtgatgtcatgattgacagct	8	7	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:53342042C>G	ENST00000395631.2	-	8	1213	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	FERMT2_ENST00000553373.1_Missense_Mutation_p.E333Q|FERMT2_ENST00000341590.3_Missense_Mutation_p.E333Q|FERMT2_ENST00000343279.4_Missense_Mutation_p.E333Q|FERMT2_ENST00000399304.3_Missense_Mutation_p.E333Q			Q96AC1	FERM2_HUMAN	fermitin family member 2	333	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAATGATTCTCTGATGTCATG	0.323																																																	0													135	122	126					14																	53342042		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.997G>C	14.37:g.53342042C>G	ENSP00000378993:p.Glu333Gln		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E333Q	ENST00000395631.2	37	c.997	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202928	0.58234	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);	0.094433	0.64402	D	0.000001	T	0.64907	0.2641	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.30542	0.241;0.284;0.284	B;B;B	0.39119	0.192;0.291;0.291	T	0.61392	-0.7072	10	0.14252	T	0.57	.	19.8034	0.96518	0.0:1.0:0.0:0.0	.	333;333;333	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	Q	333;333;286;333;333;333	ENSP00000378993:E333Q;ENSP00000340391:E333Q;ENSP00000450741:E286Q;ENSP00000342858:E333Q;ENSP00000451084:E333Q;ENSP00000382243:E333Q	ENSP00000340391:E333Q	E	-	1	0	FERMT2	52411792	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.760000	0.94817	0.655000	0.94253	GAG	FERMT2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.323	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	C	NM_006832		53342042	-1	no_errors	ENST00000343279	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53342042	C	G	53342042	3	3	147	1	0	0	0	0	1	0	0	0	5836	922	32	1	1114	1	FERMT2	14	53342042	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1874602	53342042	54007498	805	24059										
ARID4A	5926	genome.wustl.edu	37	chr14	58838696	58838696	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacaaaatgtacttgctgtaGaatgcaggtgataaacattt	8	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:58838696G>C	ENST00000355431.3	+	24	4136	c.3763G>C	c.(3763-3765)Gaa>Caa	p.E1255Q	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000348476.3_Missense_Mutation_p.E1186Q|ARID4A_ENST00000395168.3_Missense_Mutation_p.E1201Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E1186Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1255					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E1255Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTTGCTGTAGAATGCAGGTG	0.468																																																	1	Substitution - Missense(1)	breast(1)											152	119	130					14																	58838696		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3763G>C	14.37:g.58838696G>C	ENSP00000347602:p.Glu1255Gln		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E1255Q	ENST00000355431.3	37	c.3763	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586226	0.66105	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.25250	1.81;2.03;2.02;2.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.29908	0.895	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.997;0.986;0.997	T	0.33650	-0.9860	10	0.87932	D	0	-27.2927	19.087	0.93206	0.0:0.0:1.0:0.0	.	1186;1255;1201	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Q	1255;1186;1201;1186	ENSP00000347602:E1255Q;ENSP00000344556:E1186Q;ENSP00000378597:E1201Q;ENSP00000397368:E1186Q	ENSP00000344556:E1186Q	E	+	1	0	ARID4A	57908449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GAA	ARID4A	-	NULL		0.468	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58838696	1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58838696	G	C	58838696	3	2	147	1	0	0	0	0	1	0	0	0	919	943	33	1	3853	1	ARID4A	14	58838696	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5496654	58838696	48510844	806	24060										
DAAM1	23002	genome.wustl.edu	37	chr14	59789812	59789812	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgctcagagtctgagcacaGagaacattaaaacgaaggtg	11	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:59789812G>C	ENST00000395125.1	+	5	666	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	DAAM1_ENST00000351081.1_Missense_Mutation_p.E215Q|DAAM1_ENST00000360909.3_Missense_Mutation_p.E215Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	215	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCTGAGCACAGAGAACATTAA	0.522																																																	0													42	42	42					14																	59789812		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.643G>C	14.37:g.59789812G>C	ENSP00000378557:p.Glu215Gln		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.E215Q	ENST00000395125.1	37	c.643	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617678	0.87359	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.87179	-2.22;-2.22;-2.22	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.042778	0.85682	D	0.000000	D	0.94105	0.8110	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.81914	0.991;0.995	D	0.91750	0.5411	10	0.33141	T	0.24	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	215;215	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	215	ENSP00000354162:E215Q;ENSP00000247170:E215Q;ENSP00000378557:E215Q	ENSP00000247170:E215Q	E	+	1	0	DAAM1	58859565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAG	DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.522	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59789812	1	no_errors	ENST00000351081	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59789812	G	C	59789812	3	2	147	1	0	0	0	0	1	0	0	0	4220	943	33	1	661	1	DAAM1	14	59789812	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	951116	59789812	47559728	807	24061										
HIF1A	3091	genome.wustl.edu	37	chr14	62203827	62203827	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttagattttggcagcaacGgtgagtagttatttttgtta	10	4	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:62203827G>A	ENST00000337138.4	+	9	1514	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	HIF1A_ENST00000557538.1_Splice_Site_p.D358N|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Splice_Site_p.D417N|HIF1A_ENST00000539097.1_Splice_Site_p.D441N|HIF1A_ENST00000394997.1_Splice_Site_p.D418N|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	417	N-terminal VHL recognition site.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGGCAGCAACGGTGAGTAGTT	0.393																																																	0													92	90	91					14																	62203827		2203	4300	6503	SO:0001630	splice_region_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1249+1G>A	14.37:g.62203827G>A			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.D441N	ENST00000337138.4	37	c.1321	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823248	0.71143	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.53640	0.72;0.72;0.61;0.72;0.71	6.01	6.01	0.97437	.	0.505914	0.22268	N	0.062301	T	0.43656	0.1257	L	0.49778	1.585	0.58432	D	0.999996	B;P;P	0.40376	0.0;0.715;0.715	B;B;B	0.32342	0.0;0.144;0.144	T	0.34850	-0.9812	10	0.33940	T	0.23	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	418;417;417	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	N	168;358;417;418;417;358;441	ENSP00000338018:D417N;ENSP00000378446:D418N;ENSP00000323326:D417N;ENSP00000451696:D358N;ENSP00000437955:D441N	ENSP00000323326:D417N	D	+	1	0	HIF1A	61273580	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.136000	0.94489	2.861000	0.98227	0.650000	0.86243	GAC	HIF1A	-	prints_HIF-1_alpha		0.393	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	G	NM_001530	Missense_Mutation	62203827	1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62203827	G	A	62203827	5	1	147	1	0	0	0	0	0	0	1	0	7123	1130	39	2	1283	2	HIF1A	14	62203827	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2414015	62203827	45145713	808	24062										
ADAM21	8747	genome.wustl.edu	37	chr14	70925266	70925266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtcatacgttaggtatgcaGcatgatgaagaattctgttt	11	5	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:70925266G>T	ENST00000603540.1	+	2	1308	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	ADAM21_ENST00000267499.3_Missense_Mutation_p.Q350H|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	350	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TAGGTATGCAGCATGATGAAG	0.408																																																	0													58	52	54					14																	70925266		2162	4263	6425	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1050G>T	14.37:g.70925266G>T	ENSP00000474385:p.Gln350His		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q350H	ENST00000603540.1	37	c.1050	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	1.573	-0.533566	0.04082	.	.	ENSG00000139985	ENST00000267499	T	0.63913	-0.07	4.36	-1.39	0.08997	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.567660	0.01914	N	0.040053	T	0.40595	0.1123	N	0.13272	0.32	0.18873	N	0.999985	B	0.06786	0.001	B	0.18263	0.021	T	0.11842	-1.0571	10	0.29301	T	0.29	.	0.8198	0.01109	0.247:0.335:0.1972:0.2208	.	350	Q9UKJ8	ADA21_HUMAN	H	350	ENSP00000267499:Q350H	ENSP00000267499:Q350H	Q	+	3	2	ADAM21	69995019	0.000000	0.05858	0.116000	0.21606	0.888000	0.51559	-0.971000	0.03806	-0.055000	0.13244	0.557000	0.71058	CAG	ADAM21	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.408	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G			70925266	1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.011	T	T	70925266	G	T	70925266	3	4	147	1	0	0	0	0	1	0	0	0	243	962	34	4	1052	4	ADAM21	14	70925266	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8721439	70925266	36424274	809	24063										
ADAM21	8747	genome.wustl.edu	37	chr14	70926021	70926021	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatttaaggatgaacatatCtgacattggtgaagtgaaag	10	4	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:70926021C>G	ENST00000603540.1	+	2	2063	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	ADAM21_ENST00000267499.3_Missense_Mutation_p.S602C|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	602	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGAACATATCTGACATTGGT	0.428																																																	0													162	147	152					14																	70926021		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1805C>G	14.37:g.70926021C>G	ENSP00000474385:p.Ser602Cys		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S602C	ENST00000603540.1	37	c.1805	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	C	8.540	0.872952	0.17322	.	.	ENSG00000139985	ENST00000267499	T	0.24151	1.87	4.49	3.59	0.41128	ADAM, cysteine-rich (2);	0.864570	0.09618	U	0.777871	T	0.46210	0.1381	L	0.54323	1.7	0.09310	N	1	B	0.28400	0.21	P	0.51016	0.656	T	0.51482	-0.8700	10	0.87932	D	0	.	13.3535	0.60615	0.0:0.9187:0.0:0.0813	.	602	Q9UKJ8	ADA21_HUMAN	C	602	ENSP00000267499:S602C	ENSP00000267499:S602C	S	+	2	0	ADAM21	69995774	0.003000	0.15002	0.117000	0.21633	0.012000	0.07955	0.738000	0.26158	2.485000	0.83878	0.563000	0.77884	TCT	ADAM21	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.428	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	C			70926021	1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.206	G	G	70926021	C	G	70926021	3	3	147	1	0	0	0	0	1	0	0	0	243	913	32	1	1807	1	ADAM21	14	70926021	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	755	70926021	36423519	810	24064										
C14orf115	55237	genome.wustl.edu	37	chr14	74824600	74824600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagggaggtgctgggcatgGaggagctagagaagctgccg	19	8	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:74824600G>A	ENST00000256362.4	+	2	1355	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	372					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGGGCATGGAGGAGCTAGA	0.647																																																	0													38	38	38					14																	74824600		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1114G>A	14.37:g.74824600G>A	ENSP00000256362:p.Glu372Lys		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.E372K	ENST00000256362.4	37	c.1114	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253260	0.10185	.	.	ENSG00000133980	ENST00000256362	T	0.48836	0.8	4.57	2.61	0.31194	.	0.466924	0.20210	U	0.096935	T	0.28632	0.0709	N	0.19112	0.55	0.26093	N	0.980921	B	0.18741	0.03	B	0.16289	0.015	T	0.15235	-1.0444	10	0.25751	T	0.34	.	8.2975	0.31995	0.0912:0.5122:0.3966:0.0	.	372	Q9H8Y1	VRTN_HUMAN	K	372	ENSP00000256362:E372K	ENSP00000256362:E372K	E	+	1	0	VRTN	73894353	0.998000	0.40836	0.046000	0.18839	0.036000	0.12997	0.645000	0.24782	0.470000	0.27294	0.561000	0.74099	GAG	VRTN	-	NULL		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824600	1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	0.906	A	A	74824600	G	A	74824600	3	1	147	1	0	0	0	0	1	0	0	0	1744	1175	41	1	1116	1	C14orf115	14	74824600	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3898579	74824600	32524940	811	24065										
RPS6KL1	83694	genome.wustl.edu	37	chr14	75376458	75376458	+	Missense_Mutation	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacagccccctagcaccgggCcggccccctcaggaacccaa							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:75376458C>T	ENST00000555647.1	-	8	1345	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G353D|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G322D|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G353D|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TAGCACCGGGCCGGCCCCCTC	0.697																																																	0													10	13	12					14																	75376458		2157	4245	6402	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1058G>A	14.37:g.75376458C>T	ENSP00000452027:p.Gly353Asp		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G353D	ENST00000555647.1	37	c.1058	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214682	0.06101	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.57107	0.46;0.42;0.46;0.46	5.27	2.39	0.29439	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.913212	0.09477	N	0.796930	T	0.37293	0.0998	L	0.38531	1.155	0.09310	N	1	B;B;B	0.17667	0.002;0.023;0.01	B;B;B	0.17722	0.002;0.019;0.016	T	0.29731	-1.0002	10	0.19147	T	0.46	-1.6137	3.5696	0.07912	0.1869:0.5188:0.0:0.2943	.	353;353;322	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	D	353;322;353;353	ENSP00000452027:G353D;ENSP00000346644:G322D;ENSP00000450567:G353D;ENSP00000351086:G353D	ENSP00000346644:G322D	G	-	2	0	RPS6KL1	74446211	0.018000	0.18449	0.306000	0.25113	0.001000	0.01503	0.108000	0.15396	0.197000	0.20387	-0.379000	0.06801	GGC	RPS6KL1	-	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		0.697	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	C			75376458	-1	no_errors	ENST00000358328	ensembl	human	known	70_37	missense	SNP	0.179	T	T	75376458	C	T	75376458	3	4	147	1	0	0	0	0	1	0	0	0	13689	739	26	4	684	4	RPS6KL1	14	75376458	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	551858	75376458	31973082	812	24066	135	2								
RPS6KL1	83694	genome.wustl.edu	37	chr14	75376468	75376468	+	Missense_Mutation	SNP	C	C	T													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagcaccgggccggccccctCaggaacccaagtgagccccc							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:75376468C>T	ENST00000555647.1	-	8	1335	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E350K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E319K|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E350K|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCGGCCCCCTCAGGAACCCAA	0.701																																																	0													10	13	12					14																	75376468		2165	4253	6418	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1048G>A	14.37:g.75376468C>T	ENSP00000452027:p.Glu350Lys		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E350K	ENST00000555647.1	37	c.1048	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028236	0.19512	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.61627	0.17;0.09;0.17;0.17	5.4	2.55	0.30701	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.689616	0.14325	N	0.326775	T	0.46190	0.1380	L	0.55481	1.735	0.20975	N	0.999814	B;B;P	0.42296	0.335;0.02;0.775	B;B;B	0.41412	0.058;0.008;0.356	T	0.27191	-1.0081	10	0.11485	T	0.65	-6.366	4.5083	0.11899	0.1431:0.4724:0.3034:0.0812	.	350;350;319	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	K	350;319;350;350	ENSP00000452027:E350K;ENSP00000346644:E319K;ENSP00000450567:E350K;ENSP00000351086:E350K	ENSP00000346644:E319K	E	-	1	0	RPS6KL1	74446221	0.006000	0.16342	0.017000	0.16124	0.155000	0.21991	0.899000	0.28417	0.245000	0.21373	0.561000	0.74099	GAG	RPS6KL1	-	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		0.701	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	C			75376468	-1	no_errors	ENST00000358328	ensembl	human	known	70_37	missense	SNP	0.187	T	T	75376468	C	T	75376468	3	4	147	1	0	0	0	0	1	0	0	0	13689	835	29	1	694	1	RPS6KL1	14	75376468	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10	75376468	31973072	813	24067	135	2								
SNW1	22938	genome.wustl.edu	37	chr14	78217764	78217764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacatttttttctttcgtccCatatccagtggatactgggc	8	10	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:78217764C>G	ENST00000261531.7	-	3	290	c.228G>C	c.(226-228)atG>atC	p.M76I	SNW1_ENST00000555761.1_Missense_Mutation_p.M76I|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	76	Interaction with PPIL1.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCTTTCGTCCCATATCCAGTG	0.388																																																	0													98	107	104					14																	78217764		2203	4300	6503	SO:0001583	missense	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.228G>C	14.37:g.78217764C>G	ENSP00000261531:p.Met76Ile		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.M76I	ENST00000261531.7	37	c.228	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.188570	0.94923	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.87097	2.86	0.80722	D	1	D;B	0.56521	0.976;0.131	P;B	0.62491	0.903;0.039	D	0.85778	0.1359	9	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	76;76	G3V3A4;Q13573	.;SNW1_HUMAN	I	76	.	ENSP00000261531:M76I	M	-	3	0	SNW1	77287517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	ATG	SNW1	-	NULL		0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	C	NM_012245		78217764	-1	no_errors	ENST00000261531	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78217764	C	G	78217764	3	3	147	1	0	0	0	0	1	0	0	0	14909	594	21	4	1430	4	SNW1	14	78217764	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2841296	78217764	29131776	814	24068										
TDP1	55775	genome.wustl.edu	37	chr14	90429894	90429894	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagaggaggaagacgagtatGagacatcaggggagggccag	18	5	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:90429894G>A	ENST00000335725.4	+	3	686	c.436G>A	c.(436-438)Gag>Aag	p.E146K	TDP1_ENST00000555880.1_Missense_Mutation_p.E146K|TDP1_ENST00000393452.3_Missense_Mutation_p.E146K|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.E146K|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	146					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGACGAGTATGAGACATCAGG	0.512								Repair of DNA-protein crosslinks																																									0													58	52	54					14																	90429894		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.436G>A	14.37:g.90429894G>A	ENSP00000337353:p.Glu146Lys		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.E146K	ENST00000335725.4	37	c.436	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340735	0.60963	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T;T	0.32753	1.55;1.55;1.55;1.55;1.55;1.44;1.5;1.5;1.73;1.55	5.36	4.47	0.54385	.	0.100250	0.64402	N	0.000002	T	0.21062	0.0507	L	0.52364	1.645	0.25444	N	0.988069	B;B;B;B	0.27997	0.007;0.004;0.197;0.002	B;B;B;B	0.22386	0.006;0.003;0.039;0.003	T	0.24764	-1.0151	10	0.07030	T	0.85	-5.9758	7.1259	0.25471	0.1498:0.1408:0.7094:0.0	.	146;146;146;146	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	K	146;146;146;47;146;146;146;146;146;146	ENSP00000377098:E146K;ENSP00000450872:E146K;ENSP00000377099:E146K;ENSP00000450708:E47K;ENSP00000337353:E146K;ENSP00000452279:E146K;ENSP00000451358:E146K;ENSP00000452333:E146K;ENSP00000452183:E146K;ENSP00000450628:E146K	ENSP00000337353:E146K	E	+	1	0	TDP1	89499647	0.990000	0.36364	0.051000	0.19133	0.663000	0.39108	2.693000	0.47027	1.243000	0.43853	0.561000	0.74099	GAG	TDP1	-	NULL		0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	G	NM_018319		90429894	1	no_errors	ENST00000335725	ensembl	human	known	70_37	missense	SNP	0.025	A	A	90429894	G	A	90429894	3	1	147	1	0	0	0	0	1	0	0	0	15758	1291	45	1	438	1	TDP1	14	90429894	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12212130	90429894	16919646	815	24069										
CATSPERB	79820	genome.wustl.edu	37	chr14	92185816	92185816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaccaaccacaaaatccgatCactgaacttgaataaagaag	5	10	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:92185816C>T	ENST00000256343.3	-	5	472	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	106					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAAATCCGATCACTGAACTTG	0.318																																																	0													78	68	71					14																	92185816		2203	4298	6501	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.316G>A	14.37:g.92185816C>T	ENSP00000256343:p.Asp106Asn		A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D106N	ENST00000256343.3	37	c.316	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320343	0.41096	.	.	ENSG00000133962	ENST00000256343;ENST00000553329	T	0.41758	0.99	3.62	1.75	0.24633	.	0.617965	0.13470	N	0.385469	T	0.25121	0.0610	L	0.38531	1.155	0.23401	N	0.997757	P	0.36144	0.539	B	0.36134	0.218	T	0.18429	-1.0337	10	0.02654	T	1	-14.4847	6.2295	0.20726	0.0:0.7645:0.0:0.2355	.	106	Q9H7T0	CTSRB_HUMAN	N	106;59	ENSP00000256343:D106N	ENSP00000256343:D106N	D	-	1	0	CATSPERB	91255569	0.032000	0.19561	0.814000	0.32528	0.659000	0.38960	0.155000	0.16362	0.499000	0.27970	0.563000	0.77884	GAT	CATSPERB	-	NULL		0.318	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92185816	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	missense	SNP	0.855	T	T	92185816	C	T	92185816	3	4	147	1	0	0	0	0	1	0	0	0	2696	826	29	1	3126	1	CATSPERB	14	92185816	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1755922	92185816	15163724	816	24070										
ASB2	51676	genome.wustl.edu	37	chr14	94417385	94417385	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggcctccaactgtccactCtgggcggccacgaacaaggg	12	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:94417385C>G	ENST00000315988.4	-	4	1184	c.696G>C	c.(694-696)caG>caC	p.Q232H	MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.Q280H|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	232					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.Q232H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		ACTGTCCACTCTGGGCGGCCA	0.587																																																	1	Substitution - Missense(1)	ovary(1)											161	150	153					14																	94417385		2203	4300	6503	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.696G>C	14.37:g.94417385C>G	ENSP00000320675:p.Gln232His		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.Q232H	ENST00000315988.4	37	c.696	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632631	0.67015	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.65732	-0.16;-0.16;-0.14;-0.17	5.62	3.79	0.43588	Ankyrin repeat-containing domain (3);	0.056743	0.64402	D	0.000001	T	0.71056	0.3295	L	0.48362	1.52	0.44155	D	0.996951	D;D;D	0.71674	0.998;0.966;0.998	D;P;D	0.71870	0.975;0.837;0.975	T	0.70454	-0.4867	10	0.51188	T	0.08	-22.1794	12.7097	0.57082	0.0:0.8645:0.0:0.1355	.	248;280;232	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	H	280;248;232;178;178;126	ENSP00000451575:Q280H;ENSP00000320675:Q232H;ENSP00000450940:Q178H;ENSP00000451694:Q126H	ENSP00000320675:Q232H	Q	-	3	2	ASB2	93487138	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.578000	0.36525	0.714000	0.32081	0.561000	0.74099	CAG	ASB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	C			94417385	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94417385	C	G	94417385	3	3	147	1	0	0	0	0	1	0	0	0	1024	912	32	1	1087	1	ASB2	14	94417385	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2231569	94417385	12932155	817	24071										
PPP4R4	57718	genome.wustl.edu	37	chr14	94696987	94696987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgatgtcatttctgaccattCtgcaggacgaatcagtgtca	9	10	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:94696987C>G	ENST00000304338.3	+	4	512	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	120					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCTGACCATTCTGCAGGACGA	0.473																																																	0													124	104	111					14																	94696987		2203	4300	6503	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.358C>G	14.37:g.94696987C>G	ENSP00000305924:p.Leu120Val		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L120V	ENST00000304338.3	37	c.358	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257402	0.59321	.	.	ENSG00000119698	ENST00000304338;ENST00000553661;ENST00000556470	T;T	0.34859	1.37;1.34	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.77103	2.36	0.80722	D	1	D	0.54964	0.969	P	0.51487	0.671	T	0.47484	-0.9114	10	0.33940	T	0.23	-8.4501	12.8424	0.57811	0.0:0.925:0.0:0.075	.	120	Q6NUP7	PP4R4_HUMAN	V	120;39;39	ENSP00000305924:L120V;ENSP00000451556:L39V	ENSP00000305924:L120V	L	+	1	2	PPP4R4	93766740	0.999000	0.42202	0.543000	0.28128	0.474000	0.32979	3.533000	0.53561	2.611000	0.88343	0.585000	0.79938	CTG	PPP4R4	-	superfamily_ARM-type_fold		0.473	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	C	NM_058237		94696987	1	no_errors	ENST00000304338	ensembl	human	known	70_37	missense	SNP	0.947	G	G	94696987	C	G	94696987	3	3	147	1	0	0	0	0	1	0	0	0	12432	912	32	1	445	1	PPP4R4	14	94696987	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	279602	94696987	12652553	818	24072										
SERPINA10	51156	genome.wustl.edu	37	chr14	94756366	94756366	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaattcataggcacgcactCtgtatcaaaatacctcttgg	6	10	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:94756366C>G	ENST00000393096.1	-	2	1030	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	SERPINA10_ENST00000554173.1_Missense_Mutation_p.E189Q|SERPINA10_ENST00000554723.1_Missense_Mutation_p.E229Q|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E189Q	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	189					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGCACGCACTCTGTATCAAAA	0.428																																																	0													87	89	88					14																	94756366		2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.565G>C	14.37:g.94756366C>G	ENSP00000376809:p.Glu189Gln		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E189Q	ENST00000393096.1	37	c.565	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	8.831	0.939865	0.18281	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.02	1.01	0.19927	Serpin domain (3);	0.177406	0.37304	N	0.002141	T	0.81399	0.4814	M	0.87180	2.865	0.09310	N	0.999996	P	0.47962	0.903	B	0.34138	0.176	T	0.75136	-0.3424	10	0.87932	D	0	.	6.5934	0.22659	0.0:0.6501:0.1295:0.2204	.	189	Q9UK55	ZPI_HUMAN	Q	229;189;189;189	ENSP00000450896:E229Q;ENSP00000376809:E189Q;ENSP00000261994:E189Q;ENSP00000450971:E189Q	ENSP00000261994:E189Q	E	-	1	0	SERPINA10	93826119	0.389000	0.25205	0.000000	0.03702	0.250000	0.25880	2.084000	0.41625	0.135000	0.18707	0.313000	0.20887	GAG	SERPINA10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.428	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	C	NM_016186		94756366	-1	no_errors	ENST00000261994	ensembl	human	known	70_37	missense	SNP	0.071	G	G	94756366	C	G	94756366	3	3	147	1	0	0	0	0	1	0	0	0	14117	922	32	1	785	1	SERPINA10	14	94756366	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	59379	94756366	12593174	819	24073										
AK7	122481	genome.wustl.edu	37	chr14	96864562	96864562	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggcacgctgtccaagcctGacagcccgcggcctgacttt	12	15	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:96864562G>C	ENST00000267584.4	+	2	300	c.256G>C	c.(256-258)Gac>Cac	p.D86H	AK7_ENST00000555570.1_Missense_Mutation_p.D86H|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	86					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTCCAAGCCTGACAGCCCGCG	0.552																																																	0													106	94	99					14																	96864562		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.256G>C	14.37:g.96864562G>C	ENSP00000267584:p.Asp86His		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.D86H	ENST00000267584.4	37	c.256	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460208	0.26248	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.55930	0.49	5.35	3.53	0.40419	.	1.259840	0.05591	N	0.574614	T	0.49474	0.1559	L	0.48642	1.525	0.09310	N	1	B;P	0.43094	0.011;0.799	B;B	0.41202	0.007;0.35	T	0.36089	-0.9762	10	0.46703	T	0.11	-3.1775	8.1712	0.31256	0.3113:0.0:0.6887:0.0	.	86;86	Q96M32;G3V365	KAD7_HUMAN;.	H	86	ENSP00000267584:D86H	ENSP00000267584:D86H	D	+	1	0	AK7	95934315	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.259000	0.18405	0.656000	0.30886	0.491000	0.48974	GAC	AK7	-	NULL		0.552	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G			96864562	1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	0.001	C	C	96864562	G	C	96864562	3	2	147	1	0	0	0	0	1	0	0	0	444	1290	45	1	262	1	AK7	14	96864562	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2108196	96864562	10484978	820	24074										
HSP90AA1	3320	genome.wustl.edu	37	chr14	102548615	102548615	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccttaaggtctcaataatgGaatggtcagggtttatctcc	10	8	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:102548615G>C	ENST00000216281.8	-	10	2127	c.1922C>G	c.(1921-1923)tCc>tGc	p.S641C	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.S763C	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	641					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CTCAATAATGGAATGGTCAGG	0.443																																																	0													179	180	180					14																	102548615		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1922C>G	14.37:g.102548615G>C	ENSP00000216281:p.Ser641Cys		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.S763C	ENST00000216281.8	37	c.2288	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	g	22.9	4.349045	0.82132	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.11277	2.79;2.79	4.51	4.51	0.55191	.	0.065142	0.64402	U	0.000006	T	0.46983	0.1421	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.971	T	0.66681	-0.5862	10	0.62326	D	0.03	-21.9566	17.5881	0.87988	0.0:0.0:1.0:0.0	.	763;641	P07900-2;P07900	.;HS90A_HUMAN	C	641;763	ENSP00000216281:S641C;ENSP00000335153:S763C	ENSP00000216281:S641C	S	-	2	0	HSP90AA1	101618368	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.436000	0.97532	2.228000	0.72767	0.585000	0.79938	TCC	HSP90AA1	-	pirsf_Hsp90,pfam_Hsp90		0.443	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	G	NM_005348		102548615	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102548615	G	C	102548615	3	2	147	1	0	0	0	0	1	0	0	0	7421	1174	41	1	284	1	HSP90AA1	14	102548615	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5684053	102548615	4800925	821	24075										
KLC1	3831	genome.wustl.edu	37	chr14	104120978	104120978	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacacaggatgaaattatttCtaagacaaagcaagtaattc	6	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:104120978C>G	ENST00000348520.6	+	2	396	c.77C>G	c.(76-78)tCt>tGt	p.S26C	KLC1_ENST00000557575.1_Missense_Mutation_p.S26C|KLC1_ENST00000557450.1_Missense_Mutation_p.S26C|KLC1_ENST00000554280.1_Missense_Mutation_p.S26C|KLC1_ENST00000334553.6_Missense_Mutation_p.S26C|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.S198C|KLC1_ENST00000347839.6_Missense_Mutation_p.S26C|KLC1_ENST00000389744.4_Missense_Mutation_p.S26C|KLC1_ENST00000553286.1_Missense_Mutation_p.S26C|KLC1_ENST00000246489.7_Missense_Mutation_p.S26C|KLC1_ENST00000452929.2_Missense_Mutation_p.S26C|KLC1_ENST00000445352.4_Missense_Mutation_p.S26C|KLC1_ENST00000555836.1_Missense_Mutation_p.S26C|KLC1_ENST00000380038.3_Missense_Mutation_p.S26C	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	26					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAAATTATTTCTAAGACAAAG	0.358																																																	0													73	73	73					14																	104120978		2203	4300	6503	SO:0001583	missense	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.77C>G	14.37:g.104120978C>G	ENSP00000341154:p.Ser26Cys		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.S26C	ENST00000348520.6	37	c.77	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678076	0.14841	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;D;T;T;T;T;T;T;T;D;T;T;D;T	0.83837	0.85;-1.18;-1.75;-1.18;-1.17;-1.18;-1.17;-1.17;-1.18;-1.18;-1.77;-1.17;-1.18;-1.77;-0.43	5.47	2.66	0.31614	.	0.225114	0.47093	N	0.000244	T	0.74238	0.3690	L	0.35723	1.085	0.40085	D	0.976187	B;B;B;B;B	0.16802	0.019;0.001;0.01;0.002;0.002	B;B;B;B;B	0.23419	0.046;0.002;0.02;0.002;0.018	T	0.66204	-0.5982	10	0.49607	T	0.09	-3.6436	9.049	0.36365	0.0:0.7461:0.1217:0.1322	.	26;26;198;26;26	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	C	26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;198	ENSP00000450786:S26C;ENSP00000341154:S26C;ENSP00000369377:S26C;ENSP00000374394:S26C;ENSP00000450617:S26C;ENSP00000452487:S26C;ENSP00000334618:S26C;ENSP00000452481:S26C;ENSP00000334523:S26C;ENSP00000246489:S26C;ENSP00000450648:S26C;ENSP00000451242:S26C;ENSP00000414982:S26C;ENSP00000412693:S26C;ENSP00000439065:S198C	ENSP00000246489:S26C	S	+	2	0	KLC1;RP11-73M18.2	103190731	0.993000	0.37304	0.446000	0.26920	0.368000	0.29767	3.101000	0.50283	0.273000	0.22049	-0.781000	0.03364	TCT	KLC1	-	NULL		0.358	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	C	NM_005552		104120978	1	no_errors	ENST00000334553	ensembl	human	known	70_37	missense	SNP	0.780	G	G	104120978	C	G	104120978	3	3	147	1	0	0	0	0	1	0	0	0	8353	913	32	1	79	1	KLC1	14	104120978	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1572363	104120978	3228562	822	24076										
MAGEL2	54551	genome.wustl.edu	37	chr15	23890745	23890745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcattctcctgatggagtCatcaatgatttagcggagcc	10	10	3	2	rs369371337		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:23890745C>T	ENST00000532292.1	-	1	430	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGATGGAGTCATCAATGATT	0.612																																																	0									ILE/MET	0,3710		0,0,1855	20	20	20		2145	3.8	1	15		20	1,8193		0,1,4096	no	missense	MAGEL2	NM_019066.4	10	0,1,5951	TT,TC,CC		0.0122,0.0,0.0084	benign	715/1250	23890745	1,11903	1855	4097	5952	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.336G>A	15.37:g.23890745C>T	ENSP00000433433:p.Met112Ile			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.M112I	ENST00000532292.1	37	c.336		15																																																																																			MAGEL2	-	NULL		0.612	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23890745	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.992	T	T	23890745	C	T	23890745	3	4	147	1	0	0	0	0	1	0	0	0	9212	826	29	1	1608	1	MAGEL2	15	23890745	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09		23890745	78640647	823	24077										
C15orf2	23742	genome.wustl.edu	37	chr15	24923152	24923152	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caaggctgtcatcttgcagtCtgcctctgtctccaagaagt	9	12	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:24923152C>T	ENST00000329468.2	+	1	2612	c.2138C>T	c.(2137-2139)tCt>tTt	p.S713F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	713					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATCTTGCAGTCTGCCTCTGTC	0.517																																																	0													154	146	149					15																	24923152		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2138C>T	15.37:g.24923152C>T	ENSP00000333735:p.Ser713Phe			Missense_Mutation	SNP	NULL	p.S713F	ENST00000329468.2	37	c.2138	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	7.172	0.587886	0.13812	.	.	ENSG00000185823	ENST00000329468	T	0.11277	2.79	2.77	-2.93	0.05598	.	3.894270	0.00567	N	0.000285	T	0.08447	0.0210	L	0.38175	1.15	0.09310	N	1	B	0.27594	0.182	B	0.13407	0.009	T	0.29792	-1.0000	10	0.66056	D	0.02	.	3.3792	0.07248	0.1847:0.3923:0.0:0.423	.	713	Q9NZP6	CO002_HUMAN	F	713	ENSP00000333735:S713F	ENSP00000333735:S713F	S	+	2	0	C15orf2	22474245	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.111000	0.10807	-0.674000	0.05253	-0.465000	0.05216	TCT	NPAP1	-	NULL		0.517	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24923152	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	T	T	24923152	C	T	24923152	3	4	147	1	0	0	0	0	1	0	0	0	1788	913	32	1	2140	1	C15orf2	15	24923152	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1032407	24923152	77608240	824	24078										
GABRG3	2567	genome.wustl.edu	37	chr15	27572055	27572055	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctgaacagcaacatggtgGggttaatctggatcccagac	11	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:27572055G>C	ENST00000333743.6	+	4	624	c.370G>C	c.(370-372)Ggg>Cgg	p.G124R	GABRG3_ENST00000555083.1_Missense_Mutation_p.G124R	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	124					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAACATGGTGGGGTTAATCTG	0.463																																					NSCLC(114;800 1656 7410 37729 45293)												0													139	139	139					15																	27572055		2001	4206	6207	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.370G>C	15.37:g.27572055G>C	ENSP00000331912:p.Gly124Arg		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G124R	ENST00000333743.6	37	c.370	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023730	0.93462	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.78126	-1.15;-1.15;-1.15	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84575	0.5502	L	0.43923	1.385	0.80722	D	1	D;D	0.63046	0.992;0.989	D;D	0.68943	0.961;0.92	D	0.84937	0.0863	10	0.62326	D	0.03	.	19.016	0.92894	0.0:0.0:1.0:0.0	.	124;124	Q99928;G3V594	GBRG3_HUMAN;.	R	124;124;66	ENSP00000331912:G124R;ENSP00000452244:G124R;ENSP00000451862:G66R	ENSP00000331912:G124R	G	+	1	0	GABRG3	25154801	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	9.531000	0.98054	2.718000	0.92993	0.650000	0.86243	GGG	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.463	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	G			27572055	1	no_errors	ENST00000333743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27572055	G	C	27572055	3	2	147	1	0	0	0	0	1	0	0	0	6191	1232	43	4	384	4	GABRG3	15	27572055	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2648903	27572055	74959337	825	24079										
HERC2	8924	genome.wustl.edu	37	chr15	28387979	28387979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagtgaaacattaccttaaaGaatgggctgtggagcagctg	12	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:28387979G>A	ENST00000261609.7	-	75	11646	c.11538C>T	c.(11536-11538)ttC>ttT	p.F3846F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTACCTTAAAGAATGGGCTGT	0.423																																																	0													20	20	20					15																	28387979		2187	4275	6462	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11538C>T	15.37:g.28387979G>A				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.F3846	ENST00000261609.7	37	c.11538	CCDS10021.1	15																																																																																			HERC2	-	NULL		0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28387979	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	1.000	A	A	28387979	G	A	28387979	2	1	147	1	0	0	0	0	0	0	0	1	7078	933	33	1		1	HERC2	15	28387979	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	815924	28387979	74143413	826	24080										
TRPM1	4308	genome.wustl.edu	37	chr15	31341613	31341613	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccagcctcggaatggtcaGaaagtgttgcatgttcactc	10	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:31341613G>A	ENST00000256552.6	-	13	1684	c.1537C>T	c.(1537-1539)Ctg>Ttg	p.L513L	TRPM1_ENST00000542188.1_Silent_p.L530L|TRPM1_ENST00000397795.2_Silent_p.L491L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAATGGTCAGAAAGTGTTGC	0.478																																																	0													154	146	148					15																	31341613		1984	4158	6142	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1537C>T	15.37:g.31341613G>A				Silent	SNP	pfam_Ion_trans_dom	p.L530	ENST00000256552.6	37	c.1588	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31341613	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31341613	G	A	31341613	2	1	147	1	0	0	0	0	0	0	0	1	16616	933	33	1		1	TRPM1	15	31341613	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2953634	31341613	71189779	827	24081										
RPUSD2	27079	genome.wustl.edu	37	chr15	40864067	40864067	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaagacagctgcagtctctGagagaattcacgagcaggtt	11	10	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:40864067G>C	ENST00000315616.7	+	2	909	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E230Q	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	291					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGCAGTCTCTGAGAGAATTCA	0.552																																																	0													92	94	93					15																	40864067		2203	4300	6503	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.871G>C	15.37:g.40864067G>C	ENSP00000323288:p.Glu291Gln		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.E291Q	ENST00000315616.7	37	c.871	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859176	0.51376	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.14144	2.53	6.17	6.17	0.99709	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.140352	0.64402	D	0.000009	T	0.08980	0.0222	N	0.13371	0.34	0.37339	D	0.910324	B	0.19935	0.04	B	0.25987	0.065	T	0.19451	-1.0305	10	0.46703	T	0.11	-26.1683	8.1392	0.31073	0.1799:0.0:0.8201:0.0	.	291	Q8IZ73	RUSD2_HUMAN	Q	291;270	ENSP00000323288:E291Q	ENSP00000323288:E291Q	E	+	1	0	RPUSD2	38651359	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	2.670000	0.46833	2.941000	0.99782	0.655000	0.94253	GAG	RPUSD2	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D		0.552	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	G	NM_152260		40864067	1	no_errors	ENST00000315616	ensembl	human	known	70_37	missense	SNP	0.905	C	C	40864067	G	C	40864067	3	2	147	1	0	0	0	0	1	0	0	0	13697	1291	45	1	877	1	RPUSD2	15	40864067	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9522454	40864067	61667325	828	24082										
RAD51	5888	genome.wustl.edu	37	chr15	41011012	41011012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttctctatagcttcccattGaccggggtggaggtgaagga	14	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:41011012G>A	ENST00000267868.3	+	6	713	c.445G>A	c.(445-447)Gac>Aac	p.D149N	RAD51_ENST00000382643.3_Missense_Mutation_p.D150N|RAD51_ENST00000423169.2_Missense_Mutation_p.D149N|RAD51_ENST00000532743.1_Missense_Mutation_p.D150N|RAD51_ENST00000557850.1_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	149					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTTCCCATTGACCGGGGTGG	0.458								Homologous recombination																																									0													130	122	125					15																	41011012		2203	4300	6503	SO:0001583	missense	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.445G>A	15.37:g.41011012G>A	ENSP00000267868:p.Asp149Asn		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.D150N	ENST00000267868.3	37	c.448	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145240	0.77888	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.63	5.63	0.86233	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.49699	1.58	0.80722	D	1	B;B;B	0.20368	0.003;0.044;0.024	B;B;B	0.30572	0.002;0.117;0.073	T	0.31971	-0.9924	10	0.45353	T	0.12	-14.5862	19.2722	0.94015	0.0:0.0:1.0:0.0	.	149;150;149	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	N	149;149;149;150;150	ENSP00000432759:D149N;ENSP00000406602:D149N;ENSP00000267868:D149N;ENSP00000433924:D150N;ENSP00000372088:D150N	ENSP00000267868:D149N	D	+	1	0	RAD51	38798304	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.276000	0.95745	2.656000	0.90262	0.655000	0.94253	GAC	RAD51	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51		0.458	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1	G	NM_002875, NM_133487		41011012	1	no_errors	ENST00000382643	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41011012	G	A	41011012	3	1	147	1	0	0	0	0	1	0	0	0	13015	1290	45	1	588	1	RAD51	15	41011012	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	146945	41011012	61520380	829	24083										
MFAP1	4236	genome.wustl.edu	37	chr15	44106778	44106778	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcatactcagactctgattCtgactcctctccagaacgac	5	14	5	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44106778C>T	ENST00000267812.3	-	4	770	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	180					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GACTCTGATTCTGACTCCTCT	0.493																																																	0													211	201	204					15																	44106778		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.538G>A	15.37:g.44106778C>T	ENSP00000267812:p.Glu180Lys		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E180K	ENST00000267812.3	37	c.538	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252500	0.80135	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.88906	2.99	0.80722	D	1	P	0.41748	0.761	B	0.42112	0.376	T	0.76942	-0.2772	9	0.46703	T	0.11	-23.7233	19.5698	0.95407	0.0:1.0:0.0:0.0	.	180	P55081	MFAP1_HUMAN	K	180	.	ENSP00000267812:E180K	E	-	1	0	MFAP1	41894070	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.670000	0.68088	2.797000	0.96272	0.563000	0.77884	GAA	MFAP1	-	pfam_MFAP1_C		0.493	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44106778	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44106778	C	T	44106778	3	4	147	1	0	0	0	0	1	0	0	0	9536	922	32	1	805	1	MFAP1	15	44106778	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3095766	44106778	58424614	830	24084										
MFAP1	4236	genome.wustl.edu	37	chr15	44106805	44106805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctccagaacgaccctcatCttccacttccatgacttcca	3	18	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44106805C>T	ENST00000267812.3	-	4	743	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	171					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CGACCCTCATCTTCCACTTCC	0.468																																																	0													200	193	195					15																	44106805		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.511G>A	15.37:g.44106805C>T	ENSP00000267812:p.Asp171Asn		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.D171N	ENST00000267812.3	37	c.511	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874496	0.91664	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.093120	0.64402	D	0.000001	T	0.67297	0.2878	M	0.71581	2.175	0.80722	D	1	P	0.41784	0.762	B	0.42245	0.381	T	0.66512	-0.5905	9	0.37606	T	0.19	-27.2361	19.9085	0.97016	0.0:1.0:0.0:0.0	.	171	P55081	MFAP1_HUMAN	N	171	.	ENSP00000267812:D171N	D	-	1	0	MFAP1	41894097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.873000	0.98535	0.563000	0.77884	GAT	MFAP1	-	pfam_MFAP1_C		0.468	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44106805	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44106805	C	T	44106805	3	4	147	1	0	0	0	0	1	0	0	0	9536	913	32	1	832	1	MFAP1	15	44106805	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	27	44106805	58424587	831	24085										
MFAP1	4236	genome.wustl.edu	37	chr15	44109624	44109624	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacacataacgctttaccttCactttttccattgaaatctc	3	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44109624C>T	ENST00000267812.3	-	2	334	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	34					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTTACCTTCACTTTTTCCA	0.433																																																	0													97	90	92					15																	44109624		2198	4298	6496	SO:0001819	synonymous_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.102G>A	15.37:g.44109624C>T			Q86TG6	Silent	SNP	pfam_MFAP1_C	p.V34	ENST00000267812.3	37	c.102	CCDS10105.1	15																																																																																			MFAP1	-	NULL		0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44109624	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44109624	C	T	44109624	2	4	147	1	0	0	0	0	0	0	0	1	9536	813	29	1		1	MFAP1	15	44109624	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2819	44109624	58421768	832	24086										
WDR76	79968	genome.wustl.edu	37	chr15	44120326	44120326	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atccctatcagaaaagaattCtaacaatgaagtggcgtgta	8	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44120326C>G	ENST00000263795.6	+	2	294	c.224C>G	c.(223-225)tCt>tGt	p.S75C	WDR76_ENST00000381246.2_Missense_Mutation_p.S11C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	75										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GAAAAGAATTCTAACAATGAA	0.383																																																	0													69	70	70					15																	44120326		2198	4298	6496	SO:0001583	missense	79968			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.224C>G	15.37:g.44120326C>G	ENSP00000263795:p.Ser75Cys		A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S75C	ENST00000263795.6	37	c.224	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007345	0.35415	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	D;D;T	0.87179	-2.22;-2.06;0.22	4.74	2.81	0.32909	.	0.734634	0.12433	N	0.469370	D	0.87641	0.6228	L	0.55990	1.75	0.30729	N	0.747414	D	0.63046	0.992	P	0.54499	0.754	T	0.82950	-0.0203	10	0.87932	D	0	-2.5734	6.5228	0.22285	0.0:0.7188:0.1827:0.0984	.	75	Q9H967	WDR76_HUMAN	C	75;11;11	ENSP00000263795:S75C;ENSP00000370645:S11C;ENSP00000404665:S11C	ENSP00000263795:S75C	S	+	2	0	WDR76	41907618	0.997000	0.39634	0.802000	0.32245	0.092000	0.18411	1.399000	0.34566	0.695000	0.31675	-0.253000	0.11424	TCT	WDR76	-	NULL		0.383	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	C	NM_024908		44120326	1	no_errors	ENST00000263795	ensembl	human	known	70_37	missense	SNP	0.980	G	G	44120326	C	G	44120326	3	3	147	1	0	0	0	0	1	0	0	0	17357	913	32	1	230	1	WDR76	15	44120326	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10702	44120326	58411066	833	24087										
SHF	90525	genome.wustl.edu	37	chr15	45491047	45491047	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagttgcttttcttcttctGttttggcccattagccacgg	8	12	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:45491047G>C	ENST00000290894.8	-	2	720	c.226C>G	c.(226-228)Cag>Gag	p.Q76E	CTD-2651B20.7_ENST00000568314.1_RNA|CTD-2651B20.6_ENST00000563103.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.Q133E|RP11-519G16.2_ENST00000560034.1_RNA	NM_138356.2	NP_612365			Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TTCTTCTTCTGTTTTGGCCCA	0.577											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													129	129	129					15																	45491047		1967	4154	6121	SO:0001583	missense	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.226C>G	15.37:g.45491047G>C	ENSP00000290894:p.Gln76Glu	932		Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Q133E	ENST00000290894.8	37	c.397	CCDS10120.2	15	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557706	0.27827	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390	T;T	0.31769	1.77;1.48	3.44	1.23	0.21249	.	7739.210000	0.00166	N	0.000000	T	0.20659	0.0497	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.12218	-1.0556	10	0.19147	T	0.46	-0.2098	4.3624	0.11208	0.4985:0.0:0.5015:0.0	.	76	Q7M4L6	SHF_HUMAN	E	76;76;133	ENSP00000290894:Q76E;ENSP00000315978:Q133E	ENSP00000290894:Q76E	Q	-	1	0	SHF	43278339	0.000000	0.05858	0.009000	0.14445	0.028000	0.11728	0.190000	0.17057	0.268000	0.21939	0.655000	0.94253	CAG	SHF	-	NULL		0.577	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHF	HGNC	protein_coding	OTTHUMT00000254141.2	G	NM_138356		45491047	-1	no_errors	ENST00000318390	ensembl	human	known	70_37	missense	SNP	0.014	C	C	45491047	G	C	45491047	3	2	147	1	0	0	0	0	1	0	0	0	14307	1386	48	4	1073	4	SHF	15	45491047	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1370721	45491047	57040345	834	24088										
SPPL2A	84888	genome.wustl.edu	37	chr15	51028310	51028310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attcatacctgtcttcatttCgaaacacagcccaaacaaca	3	13	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:51028310C>T	ENST00000261854.5	-	8	1194	c.920G>A	c.(919-921)cGa>cAa	p.R307Q		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	307					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GTCTTCATTTCGAAACACAGC	0.353																																					Melanoma(50;790 1209 4069 22965 33125)												0													131	113	119					15																	51028310		2196	4294	6490	SO:0001583	missense	84888				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.920G>A	15.37:g.51028310C>T	ENSP00000261854:p.Arg307Gln		B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.R307Q	ENST00000261854.5	37	c.920	CCDS10138.1	15	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673780	0.88445	.	.	ENSG00000138600	ENST00000261854	T	0.21361	2.01	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.84773	2.715	0.51767	D	0.999936	D	0.89917	1.0	D	0.64321	0.924	T	0.56817	-0.7916	10	0.54805	T	0.06	-3.6316	18.813	0.92065	0.0:1.0:0.0:0.0	.	307	Q8TCT8	PSL2_HUMAN	Q	307	ENSP00000261854:R307Q	ENSP00000261854:R307Q	R	-	2	0	AC012100.1	48815602	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	6.280000	0.72626	2.518000	0.84900	0.563000	0.77884	CGA	SPPL2A	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22		0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2A	HGNC	protein_coding	OTTHUMT00000254543.3	C	NM_032802		51028310	-1	no_errors	ENST00000261854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51028310	C	T	51028310	3	4	147	1	0	0	0	0	1	0	0	0	15118	884	31	1	674	1	SPPL2A	15	51028310	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5537263	51028310	51503082	835	24089										
VPS13C	54832	genome.wustl.edu	37	chr15	62146686	62146686	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aattggggtctgagaagtctCactgatgactgcttcatcaa	10	8	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:62146686C>T	ENST00000261517.5	-	85	11305	c.11232G>A	c.(11230-11232)gtG>gtA	p.V3744V	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Silent_p.V3701V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGAAGTCTCACTGATGACT	0.408																																																	0													215	192	200					15																	62146686		2203	4300	6503	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11232G>A	15.37:g.62146686C>T				Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.V3744	ENST00000261517.5	37	c.11232	CCDS32257.1	15																																																																																			VPS13C	-	NULL		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62146686	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	silent	SNP	0.677	T	T	62146686	C	T	62146686	2	4	147	1	0	0	0	0	0	0	0	1	17222	813	29	1		1	VPS13C	15	62146686	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	11118376	62146686	40384706	836	24090										
VPS13C	54832	genome.wustl.edu	37	chr15	62264905	62264905	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttttaagttctgatcctttCatacttttacaagtctgtgg	6	7	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:62264905C>G	ENST00000261517.5	-	27	2749	c.2676G>C	c.(2674-2676)atG>atC	p.M892I	VPS13C_ENST00000395898.3_Missense_Mutation_p.M849I|VPS13C_ENST00000395896.4_Missense_Mutation_p.M892I|VPS13C_ENST00000249837.3_Missense_Mutation_p.M849I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGATCCTTTCATACTTTTAC	0.343																																																	0													130	129	129					15																	62264905		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2676G>C	15.37:g.62264905C>G	ENSP00000261517:p.Met892Ile			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M892I	ENST00000261517.5	37	c.2676	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.612685	0.00835	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16457	2.34;2.34;2.34	5.29	-1.97	0.07503	.	2.083230	0.01538	N	0.019097	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.17837	-1.0356	10	0.09338	T	0.73	.	0.5879	0.00723	0.2865:0.3114:0.1789:0.2231	.	849;892;849;892	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	849;892;892;892	ENSP00000249837:M849I;ENSP00000261517:M892I;ENSP00000379233:M892I	ENSP00000249837:M849I	M	-	3	0	VPS13C	60052197	0.000000	0.05858	0.001000	0.08648	0.553000	0.35397	-0.920000	0.04013	-0.190000	0.10465	-0.293000	0.09583	ATG	VPS13C	-	NULL		0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62264905	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	0.002	G	G	62264905	C	G	62264905	3	3	147	1	0	0	0	0	1	0	0	0	17222	826	29	1	8849	1	VPS13C	15	62264905	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	118219	62264905	40266487	837	24091										
RPL4	6124	genome.wustl.edu	37	chr15	66795497	66795497	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaagactcagcactagtctGatgacctaaaattgagaaga	8	9	2	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:66795497G>C	ENST00000307961.6	-	3	273	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	ZWILCH_ENST00000565627.1_5'Flank|SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000446801.2_5'Flank|RPL4_ENST00000568588.1_De_novo_Start_OutOfFrame|RPL4_ENST00000564517.1_5'Flank|SNORD18B_ENST00000365659.1_RNA|ZWILCH_ENST00000307897.5_5'Flank|SNORD18C_ENST00000362704.1_RNA|ZWILCH_ENST00000535141.2_5'Flank|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	61					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCACTAGTCTGATGACCTAAA	0.478																																																	0													40	40	40					15																	66795497		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.181C>G	15.37:g.66795497G>C	ENSP00000311430:p.Gln61Glu		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.Q61E	ENST00000307961.6	37	c.181	CCDS10218.1	15	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538010	0.65085	.	.	ENSG00000174444	ENST00000307961;ENST00000449253;ENST00000432669	.	.	.	4.75	4.75	0.60458	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.78155	0.4239	M	0.86740	2.835	0.80722	D	1	B;B	0.29671	0.037;0.254	B;B	0.40659	0.07;0.336	T	0.80531	-0.1341	9	0.59425	D	0.04	-15.3507	17.9672	0.89102	0.0:0.0:1.0:0.0	.	61;61	B4DFI6;P36578	.;RL4_HUMAN	E	61	.	ENSP00000311430:Q61E	Q	-	1	0	RPL4	64582551	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.405000	0.97313	2.468000	0.83385	0.555000	0.69702	CAG	RPL4	-	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom		0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	G	NM_000968		66795497	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66795497	G	C	66795497	3	2	147	1	0	0	0	0	1	0	0	0	13625	1299	45	1	1134	1	RPL4	15	66795497	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4530592	66795497	35735895	838	24092										
NPTN	27020	genome.wustl.edu	37	chr15	73925521	73925521	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagagaccagcaacagcgaGagggccagggcgctgggcag	17	12	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:73925521G>C	ENST00000345330.4	-	1	233	c.36C>G	c.(34-36)ctC>ctG	p.L12L	NPTN_ENST00000563691.1_Silent_p.L12L|NPTN_ENST00000545878.1_Silent_p.L12L|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000562924.1_Silent_p.L12L|NPTN_ENST00000542234.1_Silent_p.L12L|NPTN_ENST00000287226.8_Silent_p.L12L|NPTN_ENST00000351217.6_Silent_p.L12L	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	12					homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GCAACAGCGAGAGGGCCAGGG	0.746																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												0													26	28	27					15																	73925521		2158	4246	6404	SO:0001819	synonymous_variant	27020			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17867	protein-coding gene	gene with protein product		612820	"stromal cell derived factor receptor 1"	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.36C>G	15.37:g.73925521G>C			B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L12	ENST00000345330.4	37	c.36	CCDS10249.1	15																																																																																			NPTN	-	NULL		0.746	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	G	NM_012428		73925521	-1	no_errors	ENST00000345330	ensembl	human	known	70_37	silent	SNP	1.000	C	C	73925521	G	C	73925521	2	2	147	1	0	0	0	0	0	0	0	1	10625	929	33	1		1	NPTN	15	73925521	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7130024	73925521	28605871	839	24093										
UBE2Q2	92912	genome.wustl.edu	37	chr15	76136055	76136055	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgaagttcctggcgtccatCttcgacaagaaccacgagcg	10	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:76136055C>G	ENST00000267938.4	+	1	430	c.48C>G	c.(46-48)atC>atG	p.I16M	UBE2Q2_ENST00000569423.1_Missense_Mutation_p.I16M|UBE2Q2_ENST00000561851.1_5'Flank|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.I16M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	16					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TGGCGTCCATCTTCGACAAGA	0.662																																																	0													43	38	40					15																	76136055		2197	4294	6491	SO:0001583	missense	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"Ubiquitin-conjugating enzymes E2"	19248	protein-coding gene	gene with protein product		612501	"ubiquitin-conjugating enzyme E2Q (putative) 2"			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.48C>G	15.37:g.76136055C>G	ENSP00000267938:p.Ile16Met		B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.I16M	ENST00000267938.4	37	c.48	CCDS10286.1	15	.	.	.	.	.	.	.	.	.	.	c	18.18	3.567693	0.65651	.	.	ENSG00000140367	ENST00000338677;ENST00000267938	T;T	0.54479	0.57;0.57	4.72	1.75	0.24633	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (2);	0.145297	0.43416	U	0.000579	T	0.58821	0.2149	L	0.54323	1.7	0.43296	D	0.995287	D	0.67145	0.996	D	0.69307	0.963	T	0.54576	-0.8273	10	0.49607	T	0.09	.	4.2663	0.10764	0.0:0.5462:0.1698:0.284	.	16	Q8WVN8	UB2Q2_HUMAN	M	16	ENSP00000340187:I16M;ENSP00000267938:I16M	ENSP00000267938:I16M	I	+	3	3	UBE2Q2	73923110	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	1.306000	0.33505	0.066000	0.16515	0.455000	0.32223	ATC	UBE2Q2	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD		0.662	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	C	NM_173469		76136055	1	no_errors	ENST00000267938	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76136055	C	G	76136055	3	3	147	1	0	0	0	0	1	0	0	0	16901	903	32	1	50	1	UBE2Q2	15	76136055	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2210534	76136055	26395337	840	24094										
SGK269	79834	genome.wustl.edu	37	chr15	77406906	77406906	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctccttcagctctgggttCtcatcaaaggggttgggtag	12	10	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:77406906C>T	ENST00000560626.2	-	7	5308	c.4833G>A	c.(4831-4833)gaG>gaA	p.E1611E	PEAK1_ENST00000312493.4_Silent_p.E1611E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTCTGGGTTCTCATCAAAGG	0.557																																																	0													98	101	100					15																	77406906		1973	4167	6140	SO:0001819	synonymous_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4833G>A	15.37:g.77406906C>T			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E1611	ENST00000560626.2	37	c.4833	CCDS42062.1	15																																																																																			PEAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.557	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77406906	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77406906	C	T	77406906	2	4	147	1	0	0	0	0	0	0	0	1	14241	912	32	1		1	SGK269	15	77406906	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1270851	77406906	25124486	841	24095										
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84652068	84652068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccacatatacatggaccaagGatggaaccttgttacagccc	8	12	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:84652068G>A	ENST00000286744.5	+	21	3912	c.3688G>A	c.(3688-3690)Gat>Aat	p.D1230N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1230N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1230	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGGACCAAGGATGGAACCTT	0.368																																																	0													102	110	107					15																	84652068		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3688G>A	15.37:g.84652068G>A	ENSP00000286744:p.Asp1230Asn		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.D1230N	ENST00000286744.5	37	c.3688	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517914	0.27211	.	.	ENSG00000156218	ENST00000286744	T	0.71579	-0.58	5.13	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188102	0.25906	N	0.027537	T	0.70579	0.3240	L	0.42632	1.34	0.48696	D	0.999691	P;D	0.52996	0.486;0.957	P;P	0.54401	0.54;0.751	T	0.64639	-0.6360	10	0.18276	T	0.48	.	13.3748	0.60732	0.0766:0.0:0.9234:0.0	.	1230;1230	P82987-2;P82987	.;ATL3_HUMAN	N	1230	ENSP00000286744:D1230N	ENSP00000286744:D1230N	D	+	1	0	ADAMTSL3	82443072	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.225000	0.58600	2.529000	0.85273	0.557000	0.71058	GAT	ADAMTSL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.368	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84652068	1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84652068	G	A	84652068	3	1	147	1	0	0	0	0	1	0	0	0	276	1174	41	1	3766	1	ADAMTSL3	15	84652068	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7245162	84652068	17879324	842	24096										
AKAP13	11214	genome.wustl.edu	37	chr15	86118455	86118455	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catcatcgagagttggacatCtatacattaacctctgagtc	7	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:86118455C>G	ENST00000394518.2	+	6	851	c.756C>G	c.(754-756)atC>atG	p.I252M	AKAP13_ENST00000361243.2_Missense_Mutation_p.I252M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	252					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTGGACATCTATACATTAA	0.438																																					Melanoma(94;603 1453 3280 32295 32951)												0													169	156	160					15																	86118455		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.756C>G	15.37:g.86118455C>G	ENSP00000378026:p.Ile252Met		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I252M	ENST00000394518.2	37	c.756	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402324	0.62288	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.60424	0.19;0.19	5.2	3.25	0.37280	.	.	.	.	.	T	0.50939	0.1645	N	0.22421	0.69	0.80722	D	1	D;D	0.57571	0.966;0.98	P;P	0.54312	0.564;0.748	T	0.53019	-0.8497	9	0.72032	D	0.01	.	6.3551	0.21397	0.0:0.7734:0.0:0.2266	.	252;252	Q12802;Q12802-2	AKP13_HUMAN;.	M	252;252;251;251	ENSP00000354718:I252M;ENSP00000378026:I252M	ENSP00000354718:I252M	I	+	3	3	AKAP13	83919459	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.090000	0.30902	1.469000	0.48083	0.655000	0.94253	ATC	AKAP13	-	NULL		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86118455	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86118455	C	G	86118455	3	3	147	1	0	0	0	0	1	0	0	0	449	903	32	1	774	1	AKAP13	15	86118455	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1466387	86118455	16412937	843	24097										
ACAN	176	genome.wustl.edu	37	chr15	89416118	89416118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actcccacccacagcaatttGagaactggcgccccaaccag	7	17	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:89416118G>C	ENST00000561243.1	+	15	7195	c.7195G>C	c.(7195-7197)Gag>Cag	p.E2399Q	ACAN_ENST00000439576.2_Missense_Mutation_p.E2399Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E2361Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2361Q			P16112	PGCA_HUMAN	aggrecan	2284	G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACAGCAATTTGAGAACTGGCG	0.577																																																	0													85	89	88					15																	89416118		2064	4232	6296	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7195G>C	15.37:g.89416118G>C	ENSP00000453342:p.Glu2399Gln		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2399Q	ENST00000561243.1	37	c.7195	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043713	0.93685	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.19105	2.17;2.17	5.27	5.27	0.74061	.	0.000000	0.33057	N	0.005326	T	0.34803	0.0910	L	0.31371	0.925	0.44227	D	0.997065	D;D	0.89917	1.0;0.997	D;P	0.64595	0.927;0.826	T	0.11616	-1.0580	10	0.87932	D	0	-9.1481	17.9081	0.88926	0.0:0.0:1.0:0.0	.	2361;2399	E7ENV9;E7EX88	.;.	Q	2399;2361;2285	ENSP00000387356:E2399Q;ENSP00000341615:E2361Q	ENSP00000268134:E2285Q	E	+	1	0	ACAN	87217122	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.752000	0.98900	2.453000	0.82957	0.655000	0.94253	GAG	ACAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89416118	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89416118	G	C	89416118	3	2	147	1	0	0	0	0	1	0	0	0	117	1291	45	1	7253	1	ACAN	15	89416118	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3297663	89416118	13115274	844	24098										
FANCI	55215	genome.wustl.edu	37	chr15	89807819	89807819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cactagataagcagcacaatGaggaacagagtggtgacgag	13	7	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:89807819G>C	ENST00000310775.7	+	9	822	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	FANCI_ENST00000451393.2_Missense_Mutation_p.E67Q|FANCI_ENST00000300027.8_Missense_Mutation_p.E246Q|FANCI_ENST00000567996.1_Missense_Mutation_p.E246Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	246					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAGCACAATGAGGAACAGAG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													104	90	95					15																	89807819		2200	4299	6499	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.736G>C	15.37:g.89807819G>C	ENSP00000310842:p.Glu246Gln		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.E246Q	ENST00000310775.7	37	c.736	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566720	0.65651	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611;ENST00000451393	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	6.02	5.1	0.69264	.	0.052037	0.85682	D	0.000000	T	0.56307	0.1976	M	0.62723	1.935	0.47341	D	0.999393	B;D;D	0.76494	0.179;0.999;0.997	B;D;P	0.67725	0.109;0.953;0.891	T	0.53387	-0.8446	10	0.23302	T	0.38	-10.6294	11.4193	0.49971	0.1375:0.0:0.8625:0.0	.	246;246;246	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	Q	246;246;246;67	ENSP00000300027:E246Q;ENSP00000310842:E246Q;ENSP00000413249:E246Q;ENSP00000390764:E67Q	ENSP00000300027:E246Q	E	+	1	0	FANCI	87608823	1.000000	0.71417	0.345000	0.25642	0.832000	0.47134	5.251000	0.65438	1.552000	0.49463	0.650000	0.86243	GAG	FANCI	-	NULL		0.353	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	G	NM_018193		89807819	1	no_errors	ENST00000310775	ensembl	human	known	70_37	missense	SNP	0.972	C	C	89807819	G	C	89807819	3	2	147	1	0	0	0	0	1	0	0	0	5687	1291	45	1	766	1	FANCI	15	89807819	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	391701	89807819	12723573	845	24099										
RHCG	51458	genome.wustl.edu	37	chr15	90016088	90016088	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtagacagtgctgttcccttCaggcatctacagagagagga	12	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:90016088C>G	ENST00000268122.4	-	10	1386	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	RHCG_ENST00000544600.1_Intron	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	440					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CTGTTCCCTTCAGGCATCTAC	0.582											OREG0023459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128	91	104					15																	90016088		2081	4049	6130	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1318G>C	15.37:g.90016088C>G	ENSP00000268122:p.Glu440Gln	1271	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.E440Q	ENST00000268122.4	37	c.1318	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602990	0.28534	.	.	ENSG00000140519	ENST00000268122;ENST00000536247	T	0.23147	1.92	4.16	1.14	0.20703	Ammonium transporter AmtB-like (1);	0.625587	0.16702	N	0.203092	T	0.14700	0.0355	N	0.24115	0.695	0.20196	N	0.999925	B	0.33549	0.417	B	0.35607	0.206	T	0.20273	-1.0280	9	.	.	.	-11.0814	6.0644	0.19856	0.0:0.6524:0.0:0.3476	.	440	Q9UBD6	RHCG_HUMAN	Q	440;431	ENSP00000268122:E440Q	.	E	-	1	0	RHCG	87817092	0.002000	0.14202	0.014000	0.15608	0.054000	0.15201	0.205000	0.17356	0.275000	0.22094	0.655000	0.94253	GAA	RHCG	-	NULL		0.582	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	C	NM_016321		90016088	-1	no_errors	ENST00000268122	ensembl	human	known	70_37	missense	SNP	0.016	G	G	90016088	C	G	90016088	3	3	147	1	0	0	0	0	1	0	0	0	13356	835	29	1	125	1	RHCG	15	90016088	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	208269	90016088	12515304	846	24100										
AP3S2	10239	genome.wustl.edu	37	chr15	90437158	90437158	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgtggcttcccatggttgttGaaaaccagaatcgcctgaat	10	10	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:90437158G>C	ENST00000336418.4	-	1	416	c.24C>G	c.(22-24)ttC>ttG	p.F8L	AP3S2_ENST00000560940.1_Missense_Mutation_p.F8L|C15orf38-AP3S2_ENST00000560224.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Intron|AP3S2_ENST00000558011.1_Missense_Mutation_p.F8L	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	8					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CATGGTTGTTGAAAACCAGAA	0.587																																																	0													57	49	52					15																	90437158		2009	3848	5857	SO:0001583	missense	10239			X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.24C>G	15.37:g.90437158G>C	ENSP00000338777:p.Phe8Leu		B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.F8L	ENST00000336418.4	37	c.24	CCDS10357.1	15	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613003	0.66672	.	.	ENSG00000157823	ENST00000336418;ENST00000423566	T	0.46451	0.87	5.16	4.24	0.50183	Longin-like (1);AP complex, mu/sigma subunit (1);	0.690754	0.13712	N	0.368047	T	0.46795	0.1411	M	0.66939	2.045	0.26328	N	0.977564	P	0.44429	0.835	P	0.49477	0.612	T	0.32745	-0.9895	10	0.26408	T	0.33	-10.2499	7.0846	0.25249	0.1765:0.0:0.8235:0.0	.	8	P59780	AP3S2_HUMAN	L	8	ENSP00000338777:F8L	ENSP00000338777:F8L	F	-	3	2	AP3S2	88238162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.261000	0.43276	2.834000	0.97654	0.655000	0.94253	TTC	AP3S2	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.587	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S2	HGNC	protein_coding	OTTHUMT00000313422.1	G			90437158	-1	no_errors	ENST00000336418	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90437158	G	C	90437158	3	2	147	1	0	0	0	0	1	0	0	0	750	1281	45	1	581	1	AP3S2	15	90437158	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	421070	90437158	12094234	847	24101										
IGF1R	3480	genome.wustl.edu	37	chr15	99442728	99442728	+	Silent	SNP	G	G	A													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacattgcttcagagctggaGaacttcatggggctcatcga							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:99442728G>A	ENST00000268035.6	+	5	1736	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	IGF1R_ENST00000558762.1_Silent_p.E375E	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	375					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAGAGCTGGAGAACTTCATGG	0.478																																																	0													183	169	174					15																	99442728		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1125G>A	15.37:g.99442728G>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E375	ENST00000268035.6	37	c.1125	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L		0.478	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	G	NM_000875		99442728	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99442728	G	A	99442728	2	1	147	1	0	0	0	0	0	0	0	1	7591	933	33	1		1	IGF1R	15	99442728	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9005570	99442728	3088664	848	24102	136	2								
IGF1R	3480	genome.wustl.edu	37	chr15	99442734	99442734	+	Missense_Mutation	SNP	C	C	A													0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcttcagagctggagaacttCatggggctcatcgaggtggt							TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:99442734C>A	ENST00000268035.6	+	5	1742	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	IGF1R_ENST00000558762.1_Missense_Mutation_p.F377L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	377					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGGAGAACTTCATGGGGCTCA	0.483																																																	0													184	171	175					15																	99442734		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1131C>A	15.37:g.99442734C>A	ENSP00000268035:p.Phe377Leu		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.F377L	ENST00000268035.6	37	c.1131	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896068	0.91962	.	.	ENSG00000140443	ENST00000268035	T	0.80304	-1.36	5.44	4.52	0.55395	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000008	D	0.85314	0.5668	M	0.83774	2.66	0.80722	D	1	D;B	0.54964	0.969;0.357	P;B	0.51453	0.67;0.214	D	0.86563	0.1842	10	0.54805	T	0.06	.	12.3132	0.54940	0.0:0.8658:0.0:0.1342	.	377;377	C9J5X1;P08069	.;IGF1R_HUMAN	L	377	ENSP00000268035:F377L	ENSP00000268035:F377L	F	+	3	2	IGF1R	97260257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.134000	0.42102	2.712000	0.92718	0.563000	0.77884	TTC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L		0.483	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99442734	1	no_errors	ENST00000268035	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99442734	C	A	99442734	3	1	147	1	0	0	0	0	1	0	0	0	7591	825	29	3	1149	3	IGF1R	15	99442734	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6	99442734	3088658	849	24103	136	2								
IGF1R	3480	genome.wustl.edu	37	chr15	99482579	99482579	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtagccgaagatttcacagtCaaaatcggaggtgtgtcctt	11	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:99482579C>G	ENST00000268035.6	+	18	4058	c.3447C>G	c.(3445-3447)gtC>gtG	p.V1149V	IGF1R_ENST00000558762.1_Silent_p.V1148V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ATTTCACAGTCAAAATCGGAG	0.502																																																	0													146	137	140					15																	99482579		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3447C>G	15.37:g.99482579C>G			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.V1149	ENST00000268035.6	37	c.3447	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,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,pfscan_Prot_kinase_cat_dom		0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99482579	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	G	G	99482579	C	G	99482579	2	3	147	1	0	0	0	0	0	0	0	1	7591	813	29	1		1	IGF1R	15	99482579	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	39845	99482579	3048813	850	24104										
FBXL16	146330	genome.wustl.edu	37	chr16	745029	745029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtagaggctgcggagggacGacatggtggacagatagctg	19	6	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:745029G>A	ENST00000397621.1	-	4	1521	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	FBXL16_ENST00000562563.1_Missense_Mutation_p.S185L|LA16c-313D11.12_ENST00000566927.1_RNA|FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000324361.5_Missense_Mutation_p.S397L	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	397										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCGGAGGGACGACATGGTGGA	0.667																																																	0													73	70	71					16																	745029		2199	4297	6496	SO:0001583	missense	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.1190C>T	16.37:g.745029G>A	ENSP00000380746:p.Ser397Leu		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.S397L	ENST00000397621.1	37	c.1190	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	g	9.605	1.129704	0.21041	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.02395	4.31;4.31	4.94	4.94	0.65067	.	0.134965	0.52532	D	0.000067	T	0.02929	0.0087	L	0.31294	0.92	0.53688	D	0.999976	B	0.19706	0.038	B	0.06405	0.002	T	0.48927	-0.8991	10	0.09590	T	0.72	.	17.1416	0.86755	0.0:0.0:1.0:0.0	.	397	Q8N461	FXL16_HUMAN	L	397	ENSP00000380746:S397L;ENSP00000318674:S397L	ENSP00000318674:S397L	S	-	2	0	FBXL16	685030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.125000	0.94402	2.286000	0.76751	0.555000	0.69702	TCG	FBXL16	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.667	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	G	NM_153350		745029	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	missense	SNP	1.000	A	A	745029	G	A	745029	3	1	147	1	0	0	0	0	1	0	0	0	5730	1059	37	1	261	1	FBXL16	16	745029	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		745029	89609724	851	24105										
CCDC78	124093	genome.wustl.edu	37	chr16	772971	772971	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagctcagaaagttgctcttCagccatcgtggcccggacca	10	13	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:772971C>T	ENST00000293889.6	-	13	1353	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	416					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				AGTTGCTCTTCAGCCATCGTG	0.642																																																	0													62	54	57					16																	772971		2197	4297	6494	SO:0001819	synonymous_variant	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1248G>A	16.37:g.772971C>T			B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	NULL	p.L416	ENST00000293889.6	37	c.1248	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481147	0.44147	.	.	ENSG00000162004	ENST00000540512	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	T	0.79953	0.4535	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83693	0.0178	7	0.87932	D	0	-2.6203	15.8892	0.79279	0.0:1.0:0.0:0.0	.	177;267	D3DU63;D3DU61	.;.	K	255	.	ENSP00000444907:E255K	E	-	1	0	CCDC78	712972	0.987000	0.35691	0.299000	0.25016	0.921000	0.55340	3.868000	0.56055	2.067000	0.61834	0.462000	0.41574	GAA	CCDC78	-	NULL		0.642	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	C	NM_173476		772971	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	silent	SNP	0.998	T	T	772971	C	T	772971	2	4	147	1	0	0	0	0	0	0	0	1	2857	813	29	1		1	CCDC78	16	772971	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	27942	772971	89581782	852	24106										
CACNA1H	8912	genome.wustl.edu	37	chr16	1259400	1259400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatgcagccgagcttgacgaCgactcggaggacgtgagtgc	16	10	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:1259400C>T	ENST00000348261.5	+	17	3980	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D	CACNA1H_ENST00000358590.4_Silent_p.D1244D|CACNA1H_ENST00000565831.1_Silent_p.D1244D|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1244					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCTTGACGACGACTCGGAGG	0.657																																																	0													27	30	29					16																	1259400		2120	4198	6318	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3732C>T	16.37:g.1259400C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D1244	ENST00000348261.5	37	c.3732	CCDS45375.1	16																																																																																			CACNA1H	-	NULL		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1259400	1	no_errors	ENST00000348261	ensembl	human	known	70_37	silent	SNP	0.356	T	T	1259400	C	T	1259400	2	4	147	1	0	0	0	0	0	0	0	1	2550	535	19	2		2	CACNA1H	16	1259400	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	486429	1259400	89095353	853	24107										
TPSG1	8912	genome.wustl.edu	37	chr16	1273501	1273501	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acacgtgcaccctccgcaggCggaggctggcctgccatggc	14	16	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:1273501C>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R56H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTCCGCAGGCGGAGGCTGGC	0.726																																																	0													6	7	7					16																	1273501		2021	4060	6081	SO:0001628	intergenic_variant	25823			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1273501C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R56H	ENST00000348261.5	37	c.167	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	c	13.61	2.289128	0.40494	.	.	ENSG00000116176	ENST00000234798	D	0.88664	-2.41	2.76	1.78	0.24846	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89368	0.6695	L	0.43646	1.37	0.25302	N	0.989276	D	0.89917	1.0	D	0.64321	0.924	T	0.78563	-0.2156	9	0.42905	T	0.14	.	6.9077	0.24319	0.0:0.8467:0.0:0.1533	.	56	Q9NRR2	TRYG1_HUMAN	H	56	ENSP00000234798:R56H	ENSP00000234798:R56H	R	-	2	0	TPSG1	1213502	0.000000	0.05858	0.206000	0.23566	0.676000	0.39594	-0.184000	0.09698	1.471000	0.48121	0.486000	0.48141	CGC	TPSG1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.726	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1273501	-1	no_errors	ENST00000234798	ensembl	human	known	70_37	missense	SNP	0.534	T	T	1273501	C	T	1273501	1	4	147	0	1	0	0	0	0	0	0	0	16457	768	27	2		2	TPSG1	16	1273501	IGR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	14101	1273501	89081252	854	24108										
NOXO1	124056	genome.wustl.edu	37	chr16	2029514	2029514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcatctgcgcggctgctctCgtaggcgcgggaagcacaga	14	13	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2029514C>T	ENST00000397280.4	-	7	748	c.745G>A	c.(745-747)Gag>Aag	p.E249K	NOXO1_ENST00000566005.1_Missense_Mutation_p.E248K|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000354249.4_Missense_Mutation_p.E243K|NOXO1_ENST00000356120.4_Missense_Mutation_p.E244K|AC005606.1_ENST00000598236.1_5'Flank			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	249	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CGGCTGCTCTCGTAGGCGCGG	0.697																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0													20	24	22					16																	2029514		2164	4239	6403	SO:0001583	missense	124056			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.745G>A	16.37:g.2029514C>T	ENSP00000380450:p.Glu249Lys		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.E249K	ENST00000397280.4	37	c.745	CCDS42101.1	16	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870316	0.51588	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.49432	0.78;0.78;0.78	5.1	-2.74	0.05932	Src homology-3 domain (4);	0.468197	0.25022	N	0.033756	T	0.25865	0.0630	L	0.41824	1.3	0.25017	N	0.991362	B;P;P;B	0.35307	0.348;0.494;0.494;0.364	B;B;B;B	0.29440	0.083;0.083;0.083;0.102	T	0.33343	-0.9872	10	0.13108	T	0.6	-10.3672	7.1419	0.25560	0.0:0.521:0.111:0.3681	.	248;243;244;249	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	K	243;244;249	ENSP00000346195:E243K;ENSP00000348435:E244K;ENSP00000380450:E249K	ENSP00000346195:E243K	E	-	1	0	NOXO1	1969515	0.011000	0.17503	0.011000	0.14972	0.836000	0.47400	0.386000	0.20702	-0.126000	0.11682	0.561000	0.74099	GAG	NOXO1	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.697	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	C			2029514	-1	no_errors	ENST00000397280	ensembl	human	known	70_37	missense	SNP	0.407	T	T	2029514	C	T	2029514	3	4	147	1	0	0	0	0	1	0	0	0	10585	893	31	1	393	1	NOXO1	16	2029514	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	756013	2029514	88325239	855	24109										
PKD1	5310	genome.wustl.edu	37	chr16	2139796	2139796	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctggggccagtggccaggtCcacaccccgactggcccggg	16	16	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2139796C>G	ENST00000262304.4	-	46	13052	c.12844G>C	c.(12844-12846)Gac>Cac	p.D4282H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.D4281H|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4282					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGCCAGGTCCACACCCCGA	0.731																																																	0													5	7	7					16																	2139796		1957	4053	6010	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12844G>C	16.37:g.2139796C>G	ENSP00000262304:p.Asp4282His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.D4282H	ENST00000262304.4	37	c.12844	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455696	0.43634	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.35605	1.3;1.3	4.19	3.15	0.36227	.	0.533626	0.18541	N	0.138210	T	0.30823	0.0777	N	0.22421	0.69	0.09310	N	1	B;P	0.51653	0.295;0.947	B;P	0.49999	0.022;0.628	T	0.05954	-1.0854	10	0.51188	T	0.08	.	9.0443	0.36336	0.0:0.7737:0.2263:0.0	.	4281;4282	P98161-3;P98161	.;PKD1_HUMAN	H	4282;4281;3616	ENSP00000262304:D4282H;ENSP00000399501:D4281H	ENSP00000262304:D4282H	D	-	1	0	PKD1	2079797	0.005000	0.15991	0.003000	0.11579	0.017000	0.09413	0.944000	0.29043	1.874000	0.54306	0.491000	0.48974	GAC	PKD1	-	NULL		0.731	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2139796	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.004	G	G	2139796	C	G	2139796	3	3	147	1	0	0	0	0	1	0	0	0	11987	855	30	1	71	1	PKD1	16	2139796	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	110282	2139796	88214957	856	24110										
PKD1	5310	genome.wustl.edu	37	chr16	2158445	2158445	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttggcctggatgctctgtgtCagtggcgtgtccccaaatga	13	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2158445C>G	ENST00000262304.4	-	15	6931	c.6723G>C	c.(6721-6723)ctG>ctC	p.L2241L	PKD1_ENST00000423118.1_Silent_p.L2241L|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2241	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCTCTGTGTCAGTGGCGTGT	0.652																																																	0													56	53	54					16																	2158445		2192	4290	6482	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6723G>C	16.37:g.2158445C>G			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L2241	ENST00000262304.4	37	c.6723	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2158445	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.900	G	G	2158445	C	G	2158445	2	3	147	1	0	0	0	0	0	0	0	1	11987	813	29	1		1	PKD1	16	2158445	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	18649	2158445	88196308	857	24111										
PKD1	5310	genome.wustl.edu	37	chr16	2161289	2161289	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcaacgcgcagcacctccagGacgaagaccagcacgtgcag	11	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2161289G>T	ENST00000262304.4	-	15	4087	c.3879C>A	c.(3877-3879)gtC>gtA	p.V1293V	PKD1_ENST00000423118.1_Silent_p.V1293V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1293	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACCTCCAGGACGAAGACCA	0.701																																																	0													15	17	16					16																	2161289		2174	4280	6454	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3879C>A	16.37:g.2161289G>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V1293	ENST00000262304.4	37	c.3879	CCDS32369.1	16																																																																																			PKD1	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2161289	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2161289	G	T	2161289	2	4	147	1	0	0	0	0	0	0	0	1	11987	1161	41	3		3	PKD1	16	2161289	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2844	2161289	88193464	858	24112										
PKMYT1	9088	genome.wustl.edu	37	chr16	3025764	3025764	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttggggccccggaatggtGacatggaacgctttaccgca	13	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:3025764G>T	ENST00000262300.8	-	4	936	c.428C>A	c.(427-429)tCa>tAa	p.S143*	PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.S143*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.S143*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.S74*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.S134*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.S134*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCGGAATGGTGACATGGAACG	0.672																																																	0													26	27	27					16																	3025764		2151	4230	6381	SO:0001587	stop_gained	9088			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.428C>A	16.37:g.3025764G>T	ENSP00000262300:p.Ser143*		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom	p.S143*	ENST00000262300.8	37	c.428	CCDS10486.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.081015	0.97267	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.69	4.73	0.59995	.	0.281834	0.35207	N	0.003369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.8923	12.7391	0.57241	0.0799:0.0:0.9201:0.0	.	.	.	.	X	143;143;143;143;134	.	ENSP00000262300:S143X	S	-	2	0	PKMYT1	2965765	1.000000	0.71417	0.897000	0.35233	0.974000	0.67602	3.583000	0.53928	1.400000	0.46741	0.655000	0.94253	TCA	PKMYT1	-	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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom		0.672	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2	G	NM_004203		3025764	-1	no_errors	ENST00000262300	ensembl	human	known	70_37	nonsense	SNP	0.987	T	T	3025764	G	T	3025764	4	4	147	1	0	0	0	0	0	1	0	0	12002	1294	45	3	1133	3	PKMYT1	16	3025764	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	864475	3025764	87328989	859	24113										
MGRN1	23295	genome.wustl.edu	37	chr16	4738831	4738831	+	3'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atggagacggcccacggcctCgccaccaccagccccacctg	10	20	0	1	rs376895162		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:4738831C>T	ENST00000399577.5	+	0	4283				MGRN1_ENST00000262370.7_Silent_p.L551L|MGRN1_ENST00000586183.1_3'UTR|MGRN1_ENST00000588994.1_Silent_p.L529L|MGRN1_ENST00000415496.1_3'UTR	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L551L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCCACGGCCTCGCCACCACCA	0.716																																																	1	Substitution - coding silent(1)	endometrium(1)						C	,,,	2,3940		0,2,1969	6	11	9		1587,,,1653	1.6	0.1	16		9	0,8096		0,0,4048	no	coding-synonymous,utr-3,utr-3,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,2,6017	TT,TC,CC		0.0,0.0507,0.0166	,,,	529/555,,,551/577	4738831	2,12036	1971	4048	6019	SO:0001624	3_prime_UTR_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.*2531C>T	16.37:g.4738831C>T			A4URL3|A4URL4|Q86W76	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L551	ENST00000399577.5	37	c.1653	CCDS45402.1	16																																																																																			MGRN1	-	NULL		0.716	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4738831	1	no_errors	ENST00000262370	ensembl	human	known	70_37	silent	SNP	0.218	T	T	4738831	C	T	4738831	1	4	147	0	1	0	0	0	0	0	0	0	9582	871	31	1		1	MGRN1	16	4738831	3'UTR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1713067	4738831	85615922	860	24114										
ZC3H7A	29066	genome.wustl.edu	37	chr16	11859530	11859530	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaatatctacattcctcctCagcagcaacatctagaaaga	5	11	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:11859530C>G	ENST00000396516.2	-	13	1731	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E512Q			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	512						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CATTCCTCCTCAGCAGCAACA	0.517																																																	0													89	76	81					16																	11859530		2197	4300	6497	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1534G>C	16.37:g.11859530C>G	ENSP00000379773:p.Glu512Gln		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E512Q	ENST00000396516.2	37	c.1534	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966767	0.53507	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09723	2.95;2.95	5.81	4.85	0.62838	.	0.153366	0.64402	D	0.000013	T	0.10723	0.0262	L	0.36672	1.1	0.80722	D	1	B;B	0.33345	0.409;0.286	B;B	0.33960	0.173;0.12	T	0.15065	-1.0450	10	0.21540	T	0.41	.	16.1239	0.81380	0.0:0.8664:0.1336:0.0	.	233;512	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	Q	512	ENSP00000347999:E512Q;ENSP00000379773:E512Q	ENSP00000347999:E512Q	E	-	1	0	ZC3H7A	11767031	1.000000	0.71417	0.951000	0.38953	0.996000	0.88848	7.818000	0.86416	1.441000	0.47550	0.655000	0.94253	GAG	ZC3H7A	-	NULL		0.517	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	C	NM_014153		11859530	-1	no_errors	ENST00000355758	ensembl	human	known	70_37	missense	SNP	0.999	G	G	11859530	C	G	11859530	3	3	147	1	0	0	0	0	1	0	0	0	17602	835	29	1	1421	1	ZC3H7A	16	11859530	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	7120699	11859530	78495223	861	24115										
ERCC4	2072	genome.wustl.edu	37	chr16	14029049	14029049	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaccgaacatgttcccagctGagagactatatcactcttgg	9	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:14029049G>A	ENST00000311895.7	+	8	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	420	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													139	129	132					16																	14029049		2197	4300	6497	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1260G>A	16.37:g.14029049G>A			A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.L420	ENST00000311895.7	37	c.1260	CCDS32390.1	16																																																																																			ERCC4	-	tigrfam_Rad1		0.403	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236		14029049	1	no_errors	ENST00000311895	ensembl	human	known	70_37	silent	SNP	0.982	A	A	14029049	G	A	14029049	2	1	147	1	0	0	0	0	0	0	0	1	5227	1277	45	1		1	ERCC4	16	14029049	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2169519	14029049	76325704	862	24116										
KIAA0430	9665	genome.wustl.edu	37	chr16	15715763	15715763	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggggctgagctcaacactCttcacctacaacaggaaaag	10	11	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:15715763C>G	ENST00000396368.3	-	12	2672	c.2466G>C	c.(2464-2466)aaG>aaC	p.K822N	KIAA0430_ENST00000344181.3_Missense_Mutation_p.K491N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K822N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K657N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K819N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K819N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	822	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCTCAACACTCTTCACCTACA	0.458																																																	0													104	98	100					16																	15715763		1941	4145	6086	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2466G>C	16.37:g.15715763C>G	ENSP00000379654:p.Lys822Asn		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.K822N	ENST00000396368.3	37	c.2466	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387176	0.42308	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.79	2.8	0.32819	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.338270	0.33875	N	0.004479	T	0.67664	0.2917	L	0.56769	1.78	0.45502	D	0.998461	D;D;D;D	0.71674	0.989;0.998;0.998;0.991	P;P;P;P	0.62014	0.772;0.897;0.897;0.854	T	0.65504	-0.6152	9	0.49607	T	0.09	.	12.7052	0.57058	0.0:0.7347:0.0:0.2653	.	821;819;818;821	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	822;657;821;491;819;822;669	.	ENSP00000315718:K821N	K	-	3	2	KIAA0430	15623264	0.779000	0.28652	0.995000	0.50966	0.218000	0.24690	0.632000	0.24583	0.116000	0.18110	-0.797000	0.03246	AAG	KIAA0430	-	smart_RRM_dom,pfscan_RRM_dom		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	C	NM_014647		15715763	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	0.955	G	G	15715763	C	G	15715763	3	3	147	1	0	0	0	0	1	0	0	0	8197	912	32	1	2826	1	KIAA0430	16	15715763	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1686714	15715763	74638990	863	24117										
ABCC6	368	genome.wustl.edu	37	chr16	16315644	16315644	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttctcaggaagcacaggctCagcaggctggtggcggcagg	17	10	2	0	rs572911630		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:16315644C>G	ENST00000205557.7	-	2	110	c.81G>C	c.(79-81)ctG>ctC	p.L27L	ABCC6_ENST00000575728.1_Silent_p.L27L|RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	27					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)	AGCACAGGCTCAGCAGGCTGG	0.607													.|||	1	0.000199681	8e-04	0	5008	,	,		17469	0		0	False		,,,				2504	0																0													11	14	13					16																	16315644		2137	4194	6331	SO:0001819	synonymous_variant	368			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.81G>C	16.37:g.16315644C>G			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L27	ENST00000205557.7	37	c.81	CCDS10568.1	16																																																																																			ABCC6	-	tigrfam_Multidrug-R_assoc		0.607	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	C			16315644	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	0.004	G	G	16315644	C	G	16315644	2	3	147	1	0	0	0	0	0	0	0	1	57	813	29	1		1	ABCC6	16	16315644	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	599881	16315644	74039109	864	24118										
SMG1	23049	genome.wustl.edu	37	chr16	18820965	18820965	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcttccttaatgacatagtCaacctgtaaaaataggcagg	8	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:18820965C>T	ENST00000446231.2	-	63	11324	c.10912G>A	c.(10912-10914)Gac>Aac	p.D3638N	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.D3639N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3638	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATGACATAGTCAACCTGTAAA	0.383																																																	0													418	308	345					16																	18820965		2197	4299	6496	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10912G>A	16.37:g.18820965C>T	ENSP00000402515:p.Asp3638Asn		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D3639N	ENST00000446231.2	37	c.10915	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668601	0.67814	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.79653	-1.29;-1.29	5.69	5.69	0.88448	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.078445	0.53938	D	0.000046	D	0.88400	0.6426	L	0.53249	1.67	0.54753	D	0.999985	D	0.69078	0.997	D	0.83275	0.996	D	0.87845	0.2654	10	0.59425	D	0.04	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	3638	Q96Q15	SMG1_HUMAN	N	3638;3639	ENSP00000402515:D3638N;ENSP00000374118:D3639N	ENSP00000374118:D3639N	D	-	1	0	SMG1	18728466	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.697000	0.84279	2.840000	0.97914	0.655000	0.94253	GAC	SMG1	-	pfam_FATC,pfscan_FATC		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18820965	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18820965	C	T	18820965	3	4	147	1	0	0	0	0	1	0	0	0	14825	826	29	1	77	1	SMG1	16	18820965	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2505321	18820965	71533788	865	24119										
SMG1	23049	genome.wustl.edu	37	chr16	18848735	18848735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caacttgggaagcacaaccaGcatctcatctctattcttaa	5	12	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:18848735G>A	ENST00000446231.2	-	46	7856	c.7444C>T	c.(7444-7446)Ctg>Ttg	p.L2482L	SMG1_ENST00000389467.3_Silent_p.L2482L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2482					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGCACAACCAGCATCTCATCT	0.418																																																	0													90	88	88					16																	18848735		1886	4118	6004	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7444C>T	16.37:g.18848735G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2482	ENST00000446231.2	37	c.7444	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18848735	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18848735	G	A	18848735	2	1	147	1	0	0	0	0	0	0	0	1	14825	962	34	4		4	SMG1	16	18848735	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	27770	18848735	71506018	866	24120										
SYT17	51760	genome.wustl.edu	37	chr16	19236108	19236108	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctttctacaatgaatccttCagcttcaaagttccccaaga	4	13	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:19236108C>T	ENST00000355377.2	+	7	1574	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	SYT17_ENST00000562034.1_Silent_p.F331F|SYT17_ENST00000568115.1_Silent_p.F331F|SYT17_ENST00000568433.1_Silent_p.F86F|SYT17_ENST00000562711.2_Silent_p.F388F	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	392	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.F392L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGAATCCTTCAGCTTCAAAG	0.448																																																	1	Substitution - Missense(1)	lung(1)											118	117	118					16																	19236108		2197	4300	6497	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1176C>T	16.37:g.19236108C>T			O43330|Q9NZ18	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.F392	ENST00000355377.2	37	c.1176	CCDS10575.1	16																																																																																			SYT17	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.448	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	C	NM_016524		19236108	1	no_errors	ENST00000355377	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19236108	C	T	19236108	2	4	147	1	0	0	0	0	0	0	0	1	15503	825	29	1		1	SYT17	16	19236108	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	387373	19236108	71118645	867	24121										
DNAH3	55567	genome.wustl.edu	37	chr16	21156659	21156659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggtggtgatgctgttctttGaagggtgcagccaaggtcca	15	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:21156659G>A	ENST00000261383.3	-	3	290	c.291C>T	c.(289-291)ttC>ttT	p.F97F	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.F97F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	97	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGTTCTTTGAAGGGTGCAG	0.522																																																	0													183	137	152					16																	21156659		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.291C>T	16.37:g.21156659G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.F97	ENST00000261383.3	37	c.291	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21156659	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21156659	G	A	21156659	2	1	147	1	0	0	0	0	0	0	0	1	4613	1281	45	1		1	DNAH3	16	21156659	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1920551	21156659	69198094	868	24122										
PALB2	79728	genome.wustl.edu	37	chr16	23619253	23619253	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agagtcgtcttagggttaatCacaatgagctgaaacacagg	11	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:23619253C>G	ENST00000261584.4	-	12	3434	c.3282G>C	c.(3280-3282)gtG>gtC	p.V1094V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1094	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAGGGTTAATCACAATGAGCT	0.498			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													134	102	113					16																	23619253		2197	4300	6497	SO:0001819	synonymous_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3282G>C	16.37:g.23619253C>G			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.V1094	ENST00000261584.4	37	c.3282	CCDS32406.1	16																																																																																			PALB2	-	superfamily_WD40_repeat_dom		0.498	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	C	NM_024675		23619253	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	silent	SNP	0.088	G	G	23619253	C	G	23619253	2	3	147	1	0	0	0	0	0	0	0	1	11430	813	29	1		1	PALB2	16	23619253	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2462594	23619253	66735500	869	24123										
RBBP6	5930	genome.wustl.edu	37	chr16	24578503	24578503	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caccacagcgaaagatcacaGaggactcaaggcccgtcact	9	14	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:24578503G>A	ENST00000319715.4	+	15	2061	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	RBBP6_ENST00000348022.2_Silent_p.Q543Q|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	543					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAGATCACAGAGGACTCAAG	0.478																																																	0													156	145	149					16																	24578503		2197	4300	6497	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1629G>A	16.37:g.24578503G>A			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.Q543	ENST00000319715.4	37	c.1629	CCDS10621.1	16																																																																																			RBBP6	-	NULL		0.478	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	G	NM_006910		24578503	1	no_errors	ENST00000319715	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24578503	G	A	24578503	2	1	147	1	0	0	0	0	0	0	0	1	13133	933	33	1		1	RBBP6	16	24578503	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	959250	24578503	65776250	870	24124										
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25251138	25251138	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taggaagagaagatcatcatCaaaaagttttcctaaattca	6	6	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:25251138C>G	ENST00000328086.7	-	7	3706	c.2903G>C	c.(2902-2904)tGa>tCa	p.*968S	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	0					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGATCATCATCAAAAAGTTTT	0.398																																																	0													94	89	91					16																	25251138		2197	4300	6497	SO:0001578	stop_lost	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2903G>C	16.37:g.25251138C>G			A1L3B4|Q6ZN77	Nonstop_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.*968S	ENST00000328086.7	37	c.2903	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280716	0.40294	.	.	ENSG00000155592	ENST00000328086	.	.	.	5.82	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1875	0.03891	0.1595:0.5181:0.1543:0.1681	.	.	.	.	S	968	.	.	X	-	2	2	ZKSCAN2	25158639	0.000000	0.05858	0.672000	0.29872	0.990000	0.78478	-0.071000	0.11505	0.382000	0.24878	0.563000	0.77884	TGA	ZKSCAN2	-	NULL		0.398	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25251138	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	nonstop	SNP	0.037	G	G	25251138	C	G	25251138	4	3	147	1	0	0	0	0	0	0	0	0	17717	837	29	1	4	1	ZKSCAN2	16	25251138	Nonstop_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	672635	25251138	65103615	871	24125										
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25251184	25251184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttcccttatgtgggttctCagggcaatacagagatggag	12	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:25251184C>G	ENST00000328086.7	-	7	3660	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	953					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTGGGTTCTCAGGGCAATAC	0.423																																																	0													128	120	123					16																	25251184		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2857G>C	16.37:g.25251184C>G	ENSP00000331626:p.Glu953Gln		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E953Q	ENST00000328086.7	37	c.2857	CCDS32410.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.067678|4.067678	0.76301|0.76301	.|.	.|.	ENSG00000155592|ENSG00000155592	ENST00000328086|ENST00000536768	T|.	0.07444|.	3.19|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|.	0.48995|.	0.1531|.	L|L	0.36672|0.36672	1.1|1.1	0.35495|0.35495	D|D	0.799292|0.799292	P;D|.	0.69078|.	0.937;0.997|.	P;P|.	0.61592|.	0.654;0.891|.	T|.	0.55016|.	-0.8206|.	10|.	0.12103|.	T|.	0.63|.	-25.978|-25.978	9.7908|9.7908	0.40704|0.40704	0.0:0.9095:0.0:0.0905|0.0:0.9095:0.0:0.0905	.|.	749;953|.	B4DYF0;Q63HK3|.	.;ZKSC2_HUMAN|.	Q|S	953|837	ENSP00000331626:E953Q|.	ENSP00000331626:E953Q|.	E|X	-|-	1|2	0|2	ZKSCAN2|ZKSCAN2	25158685|25158685	0.046000|0.046000	0.20272|0.20272	0.556000|0.556000	0.28293|0.28293	0.889000|0.889000	0.51656|0.51656	1.770000|1.770000	0.38532|0.38532	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	GAG|TGA	ZKSCAN2	-	NULL		0.423	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25251184	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.949	G	G	25251184	C	G	25251184	3	3	147	1	0	0	0	0	1	0	0	0	17717	835	29	1	50	1	ZKSCAN2	16	25251184	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	46	25251184	65103569	872	24126										
JMJD5	79831	genome.wustl.edu	37	chr16	27226287	27226287	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaggaatggtcccagaccctCatgacggtcaacgagttcat	11	11	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:27226287C>T	ENST00000286096.4	+	4	929	c.756C>T	c.(754-756)ctC>ctT	p.L252L	KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.L290L|CTD-3203P2.1_ENST00000567108.1_RNA	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	252					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										CCCAGACCCTCATGACGGTCA	0.488																																																	0													200	165	177					16																	27226287		2197	4300	6497	SO:0001819	synonymous_variant	79831			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.756C>T	16.37:g.27226287C>T			B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L290	ENST00000286096.4	37	c.870	CCDS10627.1	16																																																																																			KDM8	-	NULL		0.488	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	C	NM_024773		27226287	1	no_errors	ENST00000441782	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27226287	C	T	27226287	2	4	147	1	0	0	0	0	0	0	0	1	7972	813	29	1		1	JMJD5	16	27226287	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1975103	27226287	63128466	873	24127										
IL4R	3566	genome.wustl.edu	37	chr16	27374353	27374353	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctccgccgaaatgtcctccaGcatggggcagctgcagcccc	11	17	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:27374353G>C	ENST00000395762.2	+	11	1939	c.1680G>C	c.(1678-1680)caG>caC	p.Q560H	IL4R_ENST00000170630.2_Missense_Mutation_p.Q560H|IL4R_ENST00000543915.2_Missense_Mutation_p.Q560H|IL4R_ENST00000380922.3_Missense_Mutation_p.Q545H	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	560	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ATGTCCTCCAGCATGGGGCAG	0.647																																																	0													28	33	31					16																	27374353		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1680G>C	16.37:g.27374353G>C	ENSP00000379111:p.Gln560His		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q560H	ENST00000395762.2	37	c.1680	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157067	0.38119	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.16	2.97	0.34412	.	3.706210	0.00714	N	0.000853	T	0.33962	0.0881	M	0.64997	1.995	0.28743	N	0.901877	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68192	0.956;0.956;0.956	T	0.02844	-1.1103	10	0.72032	D	0.01	-30.0301	4.8658	0.13607	0.3077:0.0:0.6923:0.0	.	545;560;560	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	H	560;560;545;560	ENSP00000379111:Q560H;ENSP00000441667:Q560H;ENSP00000370309:Q545H;ENSP00000170630:Q560H	ENSP00000170630:Q560H	Q	+	3	2	IL4R	27281854	0.975000	0.34042	0.968000	0.41197	0.055000	0.15305	1.473000	0.35387	1.189000	0.43028	0.555000	0.69702	CAG	IL4R	-	NULL		0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	G			27374353	1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.917	C	C	27374353	G	C	27374353	3	2	147	1	0	0	0	0	1	0	0	0	7718	962	34	4	1732	4	IL4R	16	27374353	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	148066	27374353	62980400	874	24128										
SULT1A1	6817	genome.wustl.edu	37	chr16	28619669	28619669	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccaggggcaggtgtgtcttCaggagtcgtggggccggtgt	20	8	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:28619669C>T	ENST00000395607.1	-	4	588	c.315G>A	c.(313-315)ctG>ctA	p.L105L	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.L105L|SULT1A1_ENST00000395609.1_Silent_p.L105L|SULT1A1_ENST00000314752.7_Silent_p.L105L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	105					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGTGTGTCTTCAGGAGTCGTG	0.582																																																	0													193	149	164					16																	28619669		2197	4300	6497	SO:0001819	synonymous_variant	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.315G>A	16.37:g.28619669C>T			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	pfam_Sulfotransferase_dom	p.L105	ENST00000395607.1	37	c.315	CCDS32420.1	16																																																																																			SULT1A1	-	pfam_Sulfotransferase_dom		0.582	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	C	NM_001055		28619669	-1	no_errors	ENST00000314752	ensembl	human	known	70_37	silent	SNP	0.945	T	T	28619669	C	T	28619669	2	4	147	1	0	0	0	0	0	0	0	1	15402	813	29	1		1	SULT1A1	16	28619669	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1245316	28619669	61735084	875	24129										
SULT1A1	6817	genome.wustl.edu	37	chr16	28620067	28620067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgatgagcaggtcatcaggcCgggcctggaagctctgcagg	16	10	3	2	rs143283780	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:28620067C>T	ENST00000395607.1	-	2	383	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37Q|SULT1A1_ENST00000395609.1_Missense_Mutation_p.R37Q|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37Q	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	37			R -> Q. {ECO:0000269|PubMed:9345314}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GTCATCAGGCCGGGCCTGGAA	0.652													.|||	2	0.000399361	0.0015	0	5008	,	,		23889	0		0	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,	7,4387		0,7,2190	71	62	65		110,110,110,110,	0.3	0	16	dbSNP_134	65	0,8594		0,0,4297	no	missense,missense,missense,missense,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	43,43,43,43,	0,7,6487	TT,TC,CC		0.0,0.1593,0.0539	benign,benign,benign,benign,	37/296,37/296,37/296,37/296,	28620067	7,12981	2197	4297	6494	SO:0001583	missense	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.110G>A	16.37:g.28620067C>T	ENSP00000378971:p.Arg37Gln		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R37Q	ENST00000395607.1	37	c.110	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308907	0.40895	0.001593	0.0	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.02236	4.38;4.38;4.38	2.5	0.336	0.15958	.	1.482540	0.04423	N	0.367932	T	0.02047	0.0064	N	0.19112	0.55	0.09310	N	0.999999	B	0.18968	0.032	B	0.17433	0.018	T	0.46735	-0.9170	10	0.54805	T	0.06	.	4.4973	0.11844	0.2284:0.6332:0.0:0.1384	.	37	P50225	ST1A1_HUMAN	Q	37	ENSP00000321988:R37Q;ENSP00000378972:R37Q;ENSP00000378971:R37Q	ENSP00000321988:R37Q	R	-	2	0	SULT1A1	28527568	0.001000	0.12720	0.005000	0.12908	0.401000	0.30781	0.215000	0.17562	0.123000	0.18342	0.306000	0.20318	CGG	SULT1A1	-	NULL		0.652	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	C	NM_001055		28620067	-1	no_errors	ENST00000314752	ensembl	human	known	70_37	missense	SNP	0.292	T	T	28620067	C	T	28620067	3	4	147	1	0	0	0	0	1	0	0	0	15402	652	23	2	805	2	SULT1A1	16	28620067	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	398	28620067	61734686	876	24130										
DOC2A	8448	genome.wustl.edu	37	chr16	30018395	30018395	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctcagcgccgctgacatgGaagagggggacgccagctga	15	13	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:30018395G>C	ENST00000350119.4	-	7	861	c.671C>G	c.(670-672)tCc>tGc	p.S224C	DOC2A_ENST00000564944.1_Missense_Mutation_p.S224C|DOC2A_ENST00000564979.1_Missense_Mutation_p.S224C	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	224	Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CGCTGACATGGAAGAGGGGGA	0.677																																																	0													31	32	32					16																	30018395		2196	4299	6495	SO:0001583	missense	8448			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.671C>G	16.37:g.30018395G>C	ENSP00000340017:p.Ser224Cys		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Doc2,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.S224C	ENST00000350119.4	37	c.671	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441777	0.43326	.	.	ENSG00000149927	ENST00000350119	T	0.64085	-0.08	5.44	4.45	0.53987	C2 calcium/lipid-binding domain, CaLB (1);	0.128910	0.35708	N	0.003028	T	0.60183	0.2249	L	0.42245	1.32	0.37836	D	0.928893	P	0.51351	0.944	P	0.51193	0.662	T	0.66626	-0.5876	10	0.87932	D	0	.	7.7955	0.29146	0.0874:0.1642:0.7485:0.0	.	224	Q14183	DOC2A_HUMAN	C	224	ENSP00000340017:S224C	ENSP00000340017:S224C	S	-	2	0	DOC2A	29925896	0.996000	0.38824	1.000000	0.80357	0.314000	0.28054	3.592000	0.53993	2.552000	0.86080	0.491000	0.48974	TCC	DOC2A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Doc2		0.677	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	G	NM_003586		30018395	-1	no_errors	ENST00000350119	ensembl	human	known	70_37	missense	SNP	0.965	C	C	30018395	G	C	30018395	3	2	147	1	0	0	0	0	1	0	0	0	4693	1174	41	1	551	1	DOC2A	16	30018395	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1398328	30018395	60336358	877	24131										
ZNF747	65988	genome.wustl.edu	37	chr16	30545824	30545824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcacgtcccggtacagggcCctctgcgcgggccgcaggca	14	16	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:30545824C>G	ENST00000252799.3	-	1	844	c.177G>C	c.(175-177)agG>agC	p.R59S	ZNF747_ENST00000569360.1_Missense_Mutation_p.R59S|ZNF747_ENST00000535210.1_Missense_Mutation_p.R59S|AC002310.12_ENST00000569752.1_RNA|AC002310.13_ENST00000568114.1_Intron|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000568028.1_Missense_Mutation_p.R59S|ZNF747_ENST00000395094.3_Missense_Mutation_p.R59S	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						GGTACAGGGCCCTCTGCGCGG	0.731																																																	0													15	18	17					16																	30545824		2192	4292	6484	SO:0001583	missense	65988			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"Zinc fingers, C2H2-type", "-"	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.177G>C	16.37:g.30545824C>G	ENSP00000252799:p.Arg59Ser		A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R59S	ENST00000252799.3	37	c.177	CCDS10682.1	16	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696936	0.68386	.	.	ENSG00000169955	ENST00000535210;ENST00000252799;ENST00000395094	T;T;T	0.02974	4.09;4.09;4.09	2.5	-0.486	0.12064	Krueppel-associated box (4);	.	.	.	.	T	0.14700	0.0355	M	0.90977	3.165	0.25051	N	0.991134	D;D	0.69078	0.997;0.996	D;D	0.75484	0.948;0.986	T	0.04635	-1.0937	9	0.87932	D	0	.	4.7736	0.13167	0.0:0.4895:0.0:0.5105	.	59;59	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	S	59	ENSP00000441702:R59S;ENSP00000252799:R59S;ENSP00000378528:R59S	ENSP00000252799:R59S	R	-	3	2	ZNF747	30453325	0.000000	0.05858	0.977000	0.42913	0.692000	0.40212	0.045000	0.14013	-0.080000	0.12685	0.484000	0.47621	AGG	ZNF747	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.731	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	C	NM_023931		30545824	-1	no_errors	ENST00000535210	ensembl	human	known	70_37	missense	SNP	0.993	G	G	30545824	C	G	30545824	3	3	147	1	0	0	0	0	1	0	0	0	18160	622	22	4	406	4	ZNF747	16	30545824	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	527429	30545824	59808929	878	24132										
SLC5A2	6524	genome.wustl.edu	37	chr16	31500333	31500333	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgcccgtgtccgccgtcttCgtgctggcgctcttcgtgcc	12	18	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:31500333C>T	ENST00000330498.3	+	11	1432	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	471					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCGCCGTCTTCGTGCTGGCGC	0.662																																																	0													34	34	34					16																	31500333		2197	4299	6496	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1413C>T	16.37:g.31500333C>T			A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F471	ENST00000330498.3	37	c.1413	CCDS10714.1	16																																																																																			SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31500333	1	no_errors	ENST00000330498	ensembl	human	known	70_37	silent	SNP	0.238	T	T	31500333	C	T	31500333	2	4	147	1	0	0	0	0	0	0	0	1	14695	883	31	1		1	SLC5A2	16	31500333	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	954509	31500333	58854420	879	24133										
ZNF423	23090	genome.wustl.edu	37	chr16	49671685	49671685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttcttgtgcagcttgcgaaCgtgctcgttgaggttgtaga	14	7	1	2	rs201588114	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:49671685C>A	ENST00000561648.1	-	4	1431	c.1378G>T	c.(1378-1380)Gtt>Ttt	p.V460F	ZNF423_ENST00000535559.1_Missense_Mutation_p.V343F|ZNF423_ENST00000562871.1_Missense_Mutation_p.V400F|ZNF423_ENST00000563137.2_Missense_Mutation_p.V400F|ZNF423_ENST00000567169.1_Missense_Mutation_p.V343F|ZNF423_ENST00000562520.1_Missense_Mutation_p.V400F|ZNF423_ENST00000262383.2_Missense_Mutation_p.V460F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	460					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGCTTGCGAACGTGCTCGTTG	0.562																																																	0													144	122	130					16																	49671685		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1378G>T	16.37:g.49671685C>A	ENSP00000455426:p.Val460Phe		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V460F	ENST00000561648.1	37	c.1378	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173673	0.57584	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.29397	1.57;1.57	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.27053	0.805	0.58432	D	0.999995	D	0.60160	0.987	P	0.56865	0.808	T	0.08207	-1.0733	9	.	.	.	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	460	Q2M1K9	ZN423_HUMAN	F	460;343	ENSP00000262383:V460F;ENSP00000442321:V343F	.	V	-	1	0	ZNF423	48229186	0.999000	0.42202	0.986000	0.45419	0.892000	0.51952	4.046000	0.57376	2.346000	0.79739	0.561000	0.74099	GTT	ZNF423	-	smart_Znf_C2H2-like		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	C	NM_015069		49671685	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49671685	C	A	49671685	3	1	147	1	0	0	0	0	1	0	0	0	17928	536	19	2	2496	2	ZNF423	16	49671685	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	18171352	49671685	40683068	880	24134										
SALL1	6299	genome.wustl.edu	37	chr16	51172627	51172627	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcctttagtcgtgaaagctCttccacaaatagtgcaagca	8	10	1	1	rs145583796		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:51172627C>G	ENST00000251020.4	-	2	3539	c.3506G>C	c.(3505-3507)aGa>aCa	p.R1169T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R1072T|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1169					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGTGAAAGCTCTTCCACAAAT	0.468																																					GBM(103;1352 1446 1855 4775 8890)												0													106	95	99					16																	51172627		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3506G>C	16.37:g.51172627C>G	ENSP00000251020:p.Arg1169Thr		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1169T	ENST00000251020.4	37	c.3506	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531346	0.64972	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.19394	2.15;2.15	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.137725	0.64402	D	0.000004	T	0.23806	0.0576	L	0.45137	1.4	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.02966	-1.1088	10	0.62326	D	0.03	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	1169	Q9NSC2	SALL1_HUMAN	T	1169;1072;1133	ENSP00000251020:R1169T;ENSP00000407914:R1072T	ENSP00000251020:R1169T	R	-	2	0	SALL1	49730128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.469000	0.83416	0.563000	0.77884	AGA	SALL1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	C	NM_002968		51172627	-1	no_errors	ENST00000251020	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51172627	C	G	51172627	3	3	147	1	0	0	0	0	1	0	0	0	13840	913	32	1	476	1	SALL1	16	51172627	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1500942	51172627	39182126	881	24135										
CHD9	80205	genome.wustl.edu	37	chr16	53283964	53283964	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgattctgattggaatcctCagaatgatcttcaggtaaat	8	6	4	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:53283964C>G	ENST00000398510.3	+	16	3934	c.3847C>G	c.(3847-3849)Cag>Gag	p.Q1283E	CHD9_ENST00000564845.1_Missense_Mutation_p.Q1283E|Y_RNA_ENST00000391280.1_RNA|CHD9_ENST00000566029.1_Missense_Mutation_p.Q1283E|CHD9_ENST00000447540.1_Missense_Mutation_p.Q1283E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1283	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGGAATCCTCAGAATGATCT	0.323																																																	0													76	72	73					16																	53283964		1824	4074	5898	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3847C>G	16.37:g.53283964C>G	ENSP00000381522:p.Gln1283Glu		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1283E	ENST00000398510.3	37	c.3847		16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689914	0.88735	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.74002	-0.8;-0.8	5.59	5.59	0.84812	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000020	D	0.91112	0.7202	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.69078	0.979;0.997;0.985;0.982	D;D;D;D	0.73708	0.92;0.96;0.981;0.968	D	0.93240	0.6625	10	0.87932	D	0	-15.4585	19.956	0.97218	0.0:1.0:0.0:0.0	.	809;1283;1283;1283	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	E	1283;1283;809	ENSP00000396345:Q1283E;ENSP00000381522:Q1283E	ENSP00000219084:Q809E	Q	+	1	0	CHD9	51841465	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.729000	0.84864	2.788000	0.95919	0.557000	0.71058	CAG	CHD9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.323	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	C	NM_025134		53283964	1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53283964	C	G	53283964	3	3	147	1	0	0	0	0	1	0	0	0	3337	827	29	1	3909	1	CHD9	16	53283964	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2111337	53283964	37070789	882	24136										
MMP2	4313	genome.wustl.edu	37	chr16	55523672	55523672	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccggccgcagtgacggaaaGatgtggtgtgcgaccacagc	16	11	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:55523672G>C	ENST00000219070.4	+	7	1625	c.1116G>C	c.(1114-1116)aaG>aaC	p.K372N	MMP2_ENST00000437642.2_Missense_Mutation_p.K322N|MMP2_ENST00000543485.1_Missense_Mutation_p.K296N|MMP2_ENST00000570308.1_Missense_Mutation_p.K296N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	372	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGACGGAAAGATGTGGTGTG	0.587																																																	0													111	95	101					16																	55523672		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1116G>C	16.37:g.55523672G>C	ENSP00000219070:p.Lys372Asn		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.K372N	ENST00000219070.4	37	c.1116	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068331	0.55539	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53206	0.63;0.63;0.63	5.05	4.08	0.47627	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.68002	-0.5524	10	0.72032	D	0.01	.	8.9338	0.35686	0.2516:0.0:0.7484:0.0	.	322;372	E9PE45;P08253	.;MMP2_HUMAN	N	372;296;322	ENSP00000219070:K372N;ENSP00000444143:K296N;ENSP00000394237:K322N	ENSP00000219070:K372N	K	+	3	2	MMP2	54081173	0.961000	0.32948	0.956000	0.39512	0.594000	0.36715	1.413000	0.34725	2.504000	0.84457	0.655000	0.94253	AAG	MMP2	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.587	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	G			55523672	1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.970	C	C	55523672	G	C	55523672	3	2	147	1	0	0	0	0	1	0	0	0	9681	933	33	1	1149	1	MMP2	16	55523672	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2239708	55523672	34831081	883	24137										
CES1	1066	genome.wustl.edu	37	chr16	55844484	55844484	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaaacatcacatctgctatCaagtccaggaacaggtcttt	6	12	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:55844484C>G	ENST00000361503.4	-	11	1390	c.1260G>C	c.(1258-1260)ttG>ttC	p.L420F	CES1_ENST00000422046.2_Missense_Mutation_p.L419F|CES1_ENST00000360526.3_Missense_Mutation_p.L421F			P23141	EST1_HUMAN	carboxylesterase 1	420					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CATCTGCTATCAAGTCCAGGA	0.493																																					NSCLC(162;1801 2756 42904 52896)												0													206	211	209					16																	55844484		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1260G>C	16.37:g.55844484C>G	ENSP00000355193:p.Leu420Phe		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.L421F	ENST00000361503.4	37	c.1263	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	10.80	1.451786	0.26074	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.70869	3.08;3.08;-0.52	4.69	2.74	0.32292	Carboxylesterase, type B (1);	0.666605	0.13806	N	0.361476	T	0.62060	0.2397	L	0.41573	1.285	0.09310	N	0.999996	B;B;B	0.33748	0.301;0.301;0.423	B;B;B	0.38156	0.266;0.266;0.242	T	0.53201	-0.8472	10	0.46703	T	0.11	.	7.369	0.26790	0.0:0.7956:0.0:0.2044	.	419;420;421	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	421;420;419;285	ENSP00000353720:L421F;ENSP00000355193:L420F;ENSP00000390492:L419F	ENSP00000353720:L421F	L	-	3	2	CES1	54401985	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.139000	0.10358	0.443000	0.26582	-0.365000	0.07479	TTG	CES1	-	pfam_CarbesteraseB		0.493	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	C	NM_001266		55844484	-1	no_errors	ENST00000360526	ensembl	human	known	70_37	missense	SNP	0.013	G	G	55844484	C	G	55844484	3	3	147	1	0	0	0	0	1	0	0	0	3274	825	29	1	459	1	CES1	16	55844484	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	320812	55844484	34510269	884	24138										
CBFB	865	genome.wustl.edu	37	chr16	67100696	67100696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggagtttgatgaggagcgaGcccaggtagggtaacatcag	16	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:67100696G>T	ENST00000290858.6	+	4	655	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	CBFB_ENST00000561924.2_Missense_Mutation_p.A32S|CBFB_ENST00000412916.2_Missense_Mutation_p.A132S	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	132					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGAGGAGCGAGCCCAGGTAGG	0.468			T	MYH11	AML																																			Dom	yes		16	16q22	865	"core-binding factor, beta subunit"		L	0													137	114	122					16																	67100696		2200	4300	6500	SO:0001583	missense	865			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.394G>T	16.37:g.67100696G>T	ENSP00000290858:p.Ala132Ser		A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.A132S	ENST00000290858.6	37	c.394	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500452	0.64298	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	M	0.79805	2.47	0.80722	D	1	P;P	0.46952	0.863;0.887	D;D	0.80764	0.99;0.994	D	0.84823	0.0797	9	0.72032	D	0.01	-16.0567	18.1601	0.89705	0.0:0.0:1.0:0.0	.	132;132	Q13951-2;Q13951	.;PEBB_HUMAN	S	132	.	ENSP00000290858:A132S	A	+	1	0	CBFB	65658197	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.578000	0.98200	2.648000	0.89879	0.561000	0.74099	GCC	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta		0.468	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	G	NM_001755		67100696	1	no_errors	ENST00000290858	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67100696	G	T	67100696	3	4	147	1	0	0	0	0	1	0	0	0	2704	971	34	4	408	4	CBFB	16	67100696	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	11256212	67100696	23254057	885	24139										
EXOC3L	283849	genome.wustl.edu	37	chr16	67221399	67221399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgacccaaagtgggcctgctCcaggccctcctgtagtgccc	11	16	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:67221399C>G	ENST00000314586.6	-	5	1009	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	257	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGGCCTGCTCCAGGCCCTCC	0.687																																																	0													17	23	21					16																	67221399		2193	4290	6483	SO:0001583	missense	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.769G>C	16.37:g.67221399C>G	ENSP00000325674:p.Glu257Gln		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	pfam_Sec6	p.E257Q	ENST00000314586.6	37	c.769	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	C	7.862	0.726294	0.15439	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.18960	3.25;2.18	5.7	4.74	0.60224	.	0.333784	0.31323	N	0.007858	T	0.19685	0.0473	M	0.68317	2.08	0.25708	N	0.985512	P;P;B	0.39094	0.607;0.659;0.051	B;B;B	0.38880	0.187;0.284;0.045	T	0.14254	-1.0479	10	0.19147	T	0.46	-18.7804	5.0816	0.14659	0.1528:0.6215:0.1474:0.0783	.	196;196;257	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	Q	257;196;201	ENSP00000325674:E257Q;ENSP00000439910:E196Q	ENSP00000325008:E201Q	E	-	1	0	EXOC3L1	65778900	0.515000	0.26210	1.000000	0.80357	0.379000	0.30106	1.545000	0.36169	1.384000	0.46424	0.555000	0.69702	GAG	EXOC3L1	-	pfam_Sec6		0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2	C	NM_178516		67221399	-1	no_errors	ENST00000314586	ensembl	human	known	70_37	missense	SNP	0.991	G	G	67221399	C	G	67221399	3	3	147	1	0	0	0	0	1	0	0	0	5316	864	30	1	1511	1	EXOC3L	16	67221399	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	120703	67221399	23133354	886	24140										
EXOC3L	283849	genome.wustl.edu	37	chr16	67221525	67221525	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caccaacagggctgggtcctCccgtgccagcttccctgcgg	12	17	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:67221525C>A	ENST00000314586.6	-	5	883	c.643G>T	c.(643-645)Gag>Tag	p.E215*	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	215	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCTGGGTCCTCCCGTGCCAGC	0.692																																																	0													26	31	29					16																	67221525		2198	4298	6496	SO:0001587	stop_gained	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.643G>T	16.37:g.67221525C>A	ENSP00000325674:p.Glu215*		A8K7I9|Q8NAD2|Q8TEN2	Nonsense_Mutation	SNP	pfam_Sec6	p.E215*	ENST00000314586.6	37	c.643	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673499	0.88445	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	.	.	.	5.84	4.89	0.63831	.	0.247959	0.40728	N	0.001025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.2991	8.5435	0.33406	0.1521:0.7708:0.0:0.0771	.	.	.	.	X	215;154;159	.	ENSP00000325008:E159X	E	-	1	0	EXOC3L1	65779026	0.462000	0.25791	0.798000	0.32154	0.943000	0.58893	1.312000	0.33574	1.478000	0.48253	0.650000	0.86243	GAG	EXOC3L1	-	pfam_Sec6		0.692	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2	C	NM_178516		67221525	-1	no_errors	ENST00000314586	ensembl	human	known	70_37	nonsense	SNP	0.181	A	A	67221525	C	A	67221525	4	1	147	1	0	0	0	0	0	1	0	0	5316	864	30	3	1637	3	EXOC3L	16	67221525	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	126	67221525	23133228	887	24141										
DDX28	55794	genome.wustl.edu	37	chr16	68057079	68057079	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaccgagtcacgagggaaaaGagccgcaccggccgcgttag	14	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:68057079G>C	ENST00000332395.5	-	1	691	c.27C>G	c.(25-27)ctC>ctG	p.L9L	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'UTR	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	9						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CGAGGGAAAAGAGCCGCACCG	0.682																																																	0													17	17	17					16																	68057079		2133	4157	6290	SO:0001819	synonymous_variant	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.27C>G	16.37:g.68057079G>C				Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L9	ENST00000332395.5	37	c.27	CCDS10858.1	16																																																																																			DDX28	-	NULL		0.682	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	G	NM_018380		68057079	-1	no_errors	ENST00000332395	ensembl	human	known	70_37	silent	SNP	0.000	C	C	68057079	G	C	68057079	2	2	147	1	0	0	0	0	0	0	0	1	4360	929	33	1		1	DDX28	16	68057079	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	835554	68057079	22297674	888	24142										
DDX19A	55308	genome.wustl.edu	37	chr16	70405280	70405280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctccttcctgcaggcattGatgttgaacaagtgtctgtc	9	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:70405280G>C	ENST00000302243.7	+	11	1352	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H	DDX19A_ENST00000417604.2_Missense_Mutation_p.D366H|DDX19A_ENST00000443119.2_Missense_Mutation_p.D307H	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	397	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCAGGCATTGATGTTGAACA	0.517																																																	0													56	53	54					16																	70405280		2198	4297	6495	SO:0001583	missense	55308			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1189G>C	16.37:g.70405280G>C	ENSP00000306117:p.Asp397His		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D397H	ENST00000302243.7	37	c.1189	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833646	0.50951	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.21361	2.01;2.01;2.01	5.08	5.08	0.68730	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.84585	2.705	0.80722	D	1	P;D;P;D;D	0.89917	0.949;0.992;0.953;1.0;0.995	P;D;P;D;D	0.91635	0.539;0.993;0.791;0.999;0.909	T	0.59606	-0.7423	10	0.87932	D	0	.	15.9818	0.80116	0.0:0.0:1.0:0.0	.	307;366;232;397;398	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	H	397;289;366;307	ENSP00000306117:D397H;ENSP00000410243:D366H;ENSP00000399208:D307H	ENSP00000306209:D289H	D	+	1	0	DDX19A	68962781	1.000000	0.71417	0.990000	0.47175	0.123000	0.20343	9.143000	0.94623	2.361000	0.80049	0.491000	0.48974	GAT	DDX19A	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.517	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	G	NM_018332		70405280	1	no_errors	ENST00000302243	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70405280	G	C	70405280	3	2	147	1	0	0	0	0	1	0	0	0	4351	1290	45	1	1231	1	DDX19A	16	70405280	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2348201	70405280	19949473	889	24143										
COG4	23450	genome.wustl.edu	37	chr16	70557335	70557335	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcagctctgtcagggagcGaatgagctcagcggagattt	14	9	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:70557335G>A	ENST00000302516.5	+	0	0				COG4_ENST00000323786.5_Missense_Mutation_p.R38C|COG4_ENST00000564653.1_Missense_Mutation_p.R38C|COG4_ENST00000393612.4_Missense_Mutation_p.R34C	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTCAGGGAGCGAATGAGCTCA	0.627																																																	0													44	50	48					16																	70557335		2198	4300	6498	SO:0001631	upstream_gene_variant	25839			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582		16.37:g.70557335G>A	Exception_encountered		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.R38C	ENST00000302516.5	37	c.112	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895301	0.91962	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.50813	0.73;0.73	5.82	5.82	0.92795	.	0.211975	0.49916	D	0.000140	T	0.44307	0.1287	L	0.43152	1.355	0.49798	D	0.999821	D;D	0.69078	0.997;0.997	B;B	0.43575	0.424;0.424	T	0.47497	-0.9113	10	0.72032	D	0.01	-11.9931	14.8937	0.70627	0.0:0.0:0.8567:0.1433	.	33;34	Q6PIW8;Q9H9E3	.;COG4_HUMAN	C	38;34;34	ENSP00000315775:R38C;ENSP00000377236:R34C	ENSP00000315775:R38C	R	-	1	0	COG4	69114836	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.260000	0.51523	2.756000	0.94617	0.563000	0.77884	CGC	COG4	-	NULL		0.627	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000268972.1	G	NM_012426		70557335	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70557335	G	A	70557335	1	1	147	0	1	0	0	0	0	0	0	0	3665	1058	37	1		1	COG4	16	70557335	5'Flank	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	152055	70557335	19797418	890	24144										
HYDIN	54768	genome.wustl.edu	37	chr16	71101200	71101200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggggagcaataccttgctgTaattaagagcgccagcacct	11	10	0	1	rs10744982	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71101200T>C	ENST00000393567.2	-	15	2218	c.2068A>G	c.(2068-2070)Aca>Gca	p.T690A	HYDIN_ENST00000541601.1_Missense_Mutation_p.T707A|HYDIN_ENST00000448691.1_Missense_Mutation_p.T690A|HYDIN_ENST00000288168.10_Missense_Mutation_p.T707A|HYDIN_ENST00000321489.5_Missense_Mutation_p.T690A|HYDIN_ENST00000448089.2_Missense_Mutation_p.T690A|HYDIN_ENST00000393550.2_Missense_Mutation_p.T705A|HYDIN_ENST00000538248.1_Missense_Mutation_p.T717A|HYDIN_ENST00000543639.1_5'Flank	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	690			T -> A (in dbSNP:rs10744982).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTTGCTGTAATTAAGAGC	0.577																																																	0													68	59	62					16																	71101200		2198	4300	6498	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2068A>G	16.37:g.71101200T>C	ENSP00000377197:p.Thr690Ala		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.T690A	ENST00000393567.2	37	c.2068	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	t	17.02	3.281235	0.59758	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	4.99	4.99	0.66335	.	0.000000	0.33772	U	0.004580	T	0.24774	0.0601	M	0.77103	2.36	0.38436	D	0.946567	P;P;P;P;D	0.64830	0.767;0.767;0.544;0.767;0.994	P;P;B;P;D	0.64144	0.561;0.561;0.257;0.491;0.922	T	0.16217	-1.0410	10	0.17369	T	0.5	.	13.7486	0.62890	0.0:0.0:0.0:1.0	rs10744982;rs57923786	717;707;707;690;690	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	A	690;690;690;690;690;717;707;707;705	ENSP00000377197:T690A;ENSP00000398544:T690A;ENSP00000394826:T690A;ENSP00000314736:T690A;ENSP00000444970:T717A;ENSP00000437341:T707A;ENSP00000288168:T707A;ENSP00000377181:T705A	ENSP00000288168:T707A	T	-	1	0	HYDIN	69658701	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.820000	0.62671	1.891000	0.54761	0.491000	0.48974	ACA	HYDIN	-	NULL		0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71101200	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71101200	T	C	71101200	3	2	147	1	0	0	0	0	1	0	0	0	7487	1638	57	5	13594	5	HYDIN	16	71101200	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	543865	71101200	19253553	891	24145										
HYDIN	54768	genome.wustl.edu	37	chr16	71163621	71163621	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcctctgattcgcaaaggtTcgggacagaacagaaagatg	11	9	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71163621T>C	ENST00000393567.2	-	9	1299	c.1149A>G	c.(1147-1149)cgA>cgG	p.R383R	HYDIN_ENST00000541601.1_Silent_p.R400R|HYDIN_ENST00000448691.1_Silent_p.R383R|HYDIN_ENST00000288168.10_Silent_p.R400R|HYDIN_ENST00000321489.5_Silent_p.R383R|HYDIN_ENST00000448089.2_Silent_p.R383R|HYDIN_ENST00000393550.2_Silent_p.R383R|HYDIN_ENST00000538248.1_Silent_p.R410R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	383					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCGCAAAGGTTCGGGACAGAA	0.448																																																	0													58	58	58					16																	71163621		2198	4300	6498	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1149A>G	16.37:g.71163621T>C			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.R383	ENST00000393567.2	37	c.1149	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.448	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71163621	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.637	C	C	71163621	T	C	71163621	2	2	147	1	0	0	0	0	0	0	0	1	7487	1770	62	5		5	HYDIN	16	71163621	Silent	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	62421	71163621	19191132	892	24146										
CALB2	794	genome.wustl.edu	37	chr16	71408656	71408656	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtctttccacagatgtcaaaGagtgacaactttggagaaaa	9	7	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71408656G>C	ENST00000302628.4	+	3	257	c.180G>C	c.(178-180)aaG>aaC	p.K60N	CALB2_ENST00000349553.5_Missense_Mutation_p.K60N	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	60					cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGATGTCAAAGAGTGACAACT	0.453																																																	0													76	70	72					16																	71408656		2198	4300	6498	SO:0001583	missense	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.180G>C	16.37:g.71408656G>C	ENSP00000307508:p.Lys60Asn		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K60N	ENST00000302628.4	37	c.180	CCDS10899.1	16	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816634	0.16607	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	D;D	0.81908	-1.55;-1.54	5.49	4.53	0.55603	EF-hand-like domain (1);	0.171042	0.51477	D	0.000094	T	0.72930	0.3522	N	0.25647	0.755	0.31339	N	0.683919	P;B	0.41080	0.737;0.326	B;B	0.40782	0.34;0.222	T	0.70234	-0.4928	10	0.21540	T	0.41	-33.453	11.4132	0.49937	0.1581:0.0:0.8419:0.0	.	60;60	A6NER6;P22676	.;CALB2_HUMAN	N	60	ENSP00000340294:K60N;ENSP00000307508:K60N	ENSP00000307508:K60N	K	+	3	2	CALB2	69966157	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.439000	0.44846	0.691000	0.31592	-0.797000	0.03246	AAG	CALB2	-	NULL		0.453	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	HGNC	protein_coding	OTTHUMT00000268988.1	G	NM_001740		71408656	1	no_errors	ENST00000302628	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71408656	G	C	71408656	3	2	147	1	0	0	0	0	1	0	0	0	2579	933	33	1	190	1	CALB2	16	71408656	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	245035	71408656	18946097	893	24147										
CHST5	23563	genome.wustl.edu	37	chr16	75563052	75563052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taaggcccagagttctcagtCaggcgatgcccagctgaagt	12	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:75563052C>T	ENST00000336257.3	-	3	2625	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D417N	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	411					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGTTCTCAGTCAGGCGATGCC	0.662																																																	0													30	24	26					16																	75563052		2198	4298	6496	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1231G>A	16.37:g.75563052C>T	ENSP00000338783:p.Asp411Asn		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.D417N	ENST00000336257.3	37	c.1249	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794796	0.50102	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96802	-4.12;-4.13	2.84	0.58	0.17402	.	0.709485	0.12418	N	0.470682	D	0.84047	0.5386	N	0.02011	-0.69	0.09310	N	1	B;B	0.20368	0.044;0.026	B;B	0.17098	0.017;0.007	T	0.76326	-0.3000	10	0.07325	T	0.83	.	5.3142	0.15847	0.0:0.3111:0.0:0.6889	.	417;411	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	411;417	ENSP00000338783:D411N;ENSP00000441220:D417N	ENSP00000338783:D411N	D	-	1	0	CHST5	74120553	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-1.200000	0.03029	0.326000	0.23384	0.313000	0.20887	GAC	CHST5	-	NULL		0.662	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	C	NM_012126		75563052	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75563052	C	T	75563052	3	4	147	1	0	0	0	0	1	0	0	0	3412	826	29	1	8	1	CHST5	16	75563052	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4154396	75563052	14791701	894	24148										
CMIP	80790	genome.wustl.edu	37	chr16	81703846	81703846	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagtggtgaagaagttcattCagaggtgggtctccggcgcg	16	7	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:81703846C>T	ENST00000537098.3	+	8	997	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Nonsense_Mutation_p.Q156*|CMIP_ENST00000539778.2_Nonsense_Mutation_p.Q215*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	309						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GAAGTTCATTCAGAGGTGGGT	0.557																																																	0													57	62	60					16																	81703846		1982	4154	6136	SO:0001587	stop_gained	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.925C>T	16.37:g.81703846C>T	ENSP00000446100:p.Gln309*		Q9C0G9	Nonsense_Mutation	SNP	NULL	p.Q309*	ENST00000537098.3	37	c.925	CCDS54044.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.522364	0.98335	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	.	.	.	4.97	4.97	0.65823	.	0.061422	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.709	0.51614	0.0:0.919:0.0:0.081	.	.	.	.	X	309;215;215;122	.	ENSP00000381120:Q215X	Q	+	1	0	CMIP	80261347	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.581000	0.67471	2.298000	0.77334	0.467000	0.42956	CAG	CMIP	-	NULL		0.557	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	C	NM_030629		81703846	1	no_errors	ENST00000537098	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	81703846	C	T	81703846	4	4	147	1	0	0	0	0	0	1	0	0	3583	827	29	1	977	1	CMIP	16	81703846	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6140794	81703846	8650907	895	24149										
FAM92B	339145	genome.wustl.edu	37	chr16	85135832	85135832	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgactcaccagtagatccctCtccaggtcatacttctccag	6	15	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:85135832C>G	ENST00000539556.1	-	7	794	c.639G>C	c.(637-639)gaG>gaC	p.E213D		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	213										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GTAGATCCCTCTCCAGGTCAT	0.448																																																	0													96	91	93					16																	85135832		2198	4300	6498	SO:0001583	missense	339145				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.639G>C	16.37:g.85135832C>G	ENSP00000443411:p.Glu213Asp			Missense_Mutation	SNP	pfam_FAM92	p.E213D	ENST00000539556.1	37	c.639	CCDS32500.1	16	.	.	.	.	.	.	.	.	.	.	C	6.461	0.453273	0.12283	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.38560	1.13	5.78	-1.97	0.07503	.	0.152767	0.43919	N	0.000501	T	0.33614	0.0869	M	0.65320	2	0.19300	N	0.999979	P	0.35107	0.484	B	0.38225	0.268	T	0.18304	-1.0341	10	0.37606	T	0.19	-29.0554	4.7635	0.13121	0.0:0.2548:0.3012:0.444	.	213	Q6ZTR7	FA92B_HUMAN	D	213	ENSP00000443411:E213D	ENSP00000376937:E213D	E	-	3	2	FAM92B	83693333	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	-0.147000	0.10234	-0.140000	0.11394	-0.300000	0.09419	GAG	FAM92B	-	pfam_FAM92		0.448	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	HGNC	protein_coding		C	NM_198491		85135832	-1	no_errors	ENST00000539556	ensembl	human	known	70_37	missense	SNP	0.059	G	G	85135832	C	G	85135832	3	3	147	1	0	0	0	0	1	0	0	0	5671	912	32	1	287	1	FAM92B	16	85135832	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3431986	85135832	5218921	896	24150										
SLC7A5	8140	genome.wustl.edu	37	chr16	87872349	87872349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtgaacagggacccattgacGgagccgaagcaggacaggcc	15	11	0	2	rs111715445		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:87872349G>A	ENST00000261622.4	-	6	1079	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Silent_p.S72S	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	338					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	ACCCATTGACGGAGCCGAAGC	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		18233	0		0	False		,,,				2504	0																0													183	152	162					16																	87872349		2198	4300	6498	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1014C>T	16.37:g.87872349G>A			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.S338	ENST00000261622.4	37	c.1014	CCDS10964.1	16																																																																																			SLC7A5	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.607	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	G	NM_003486		87872349	-1	no_errors	ENST00000261622	ensembl	human	known	70_37	silent	SNP	0.014	A	A	87872349	G	A	87872349	2	1	147	1	0	0	0	0	0	0	0	1	14730	1103	39	2		2	SLC7A5	16	87872349	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2736517	87872349	2482404	897	24151										
MYO1C	4641	genome.wustl.edu	37	chr17	1371352	1371352	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgacgacggcgttgggcgtGagcagcagctgccgggagcg	19	10	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:1371352G>C	ENST00000575158.1	-	28	2897	c.2721C>G	c.(2719-2721)ctC>ctG	p.L907L	MYO1C_ENST00000361007.2_Silent_p.L907L|MYO1C_ENST00000438665.2_Silent_p.L923L|MYO1C_ENST00000359786.5_Silent_p.L942L|MYO1C_ENST00000545534.2_Silent_p.L918L			Q12965	MYO1E_HUMAN	myosin IC	786	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGTTGGGCGTGAGCAGCAGCT	0.637																																																	0													62	57	59					17																	1371352		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2721C>G	17.37:g.1371352G>C			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L942	ENST00000575158.1	37	c.2826	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_tail_2		0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1371352	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1371352	G	C	1371352	2	2	147	1	0	0	0	0	0	0	0	1	10093	1277	45	1		1	MYO1C	17	1371352	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		1371352	79823858	898	24152										
PITPNA	5306	genome.wustl.edu	37	chr17	1456312	1456312	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcatacctctgcaggtggtaGatcttgtgtgtgtactggcc	13	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:1456312G>C	ENST00000313486.7	-	3	438	c.183C>G	c.(181-183)atC>atG	p.I61M	PITPNA_ENST00000539476.1_Missense_Mutation_p.I61M	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	61					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GCAGGTGGTAGATCTTGTGTG	0.507																																																	0													175	177	176					17																	1456312		2083	4213	6296	SO:0001583	missense	5306			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.183C>G	17.37:g.1456312G>C	ENSP00000316809:p.Ile61Met			Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.I61M	ENST00000313486.7	37	c.183	CCDS45563.1	17	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850861	0.71719	.	.	ENSG00000174238	ENST00000539476;ENST00000313486	T;T	0.54675	0.56;0.56	6.16	6.16	0.99307	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	M	0.91196	3.185	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.81391	-0.0954	10	0.87932	D	0	.	13.0629	0.59018	0.0724:0.0:0.9276:0.0	.	61	Q00169	PIPNA_HUMAN	M	61	ENSP00000441869:I61M;ENSP00000316809:I61M	ENSP00000316809:I61M	I	-	3	3	PITPNA	1403062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.983000	0.56916	2.937000	0.99478	0.650000	0.86243	ATC	PITPNA	-	pfam_PI_transfer		0.507	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNA	HGNC	protein_coding	OTTHUMT00000438927.3	G			1456312	-1	no_errors	ENST00000313486	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1456312	G	C	1456312	3	2	147	1	0	0	0	0	1	0	0	0	11971	932	33	1	665	1	PITPNA	17	1456312	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	84960	1456312	79738898	899	24153										
TSR1	55720	genome.wustl.edu	37	chr17	2237775	2237775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcagtcttacctccattgcCatgtctgggtccttttgggg	10	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:2237775C>T	ENST00000301364.5	-	5	2051	c.972G>A	c.(970-972)atG>atA	p.M324I	TSR1_ENST00000576112.2_Missense_Mutation_p.M308I	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	324					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCCATTGCCATGTCTGGGT	0.408																																																	0													112	118	116					17																	2237775		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.972G>A	17.37:g.2237775C>T	ENSP00000301364:p.Met324Ile		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.M324I	ENST00000301364.5	37	c.972	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257399	0.22965	.	.	ENSG00000167721	ENST00000301364	T	0.11930	2.73	5.4	3.41	0.39046	.	0.445066	0.27749	N	0.018013	T	0.12135	0.0295	L	0.44542	1.39	0.41522	D	0.988401	B	0.12013	0.005	B	0.12837	0.008	T	0.07158	-1.0787	10	0.33940	T	0.23	-4.2555	10.6134	0.45436	0.0:0.8445:0.0:0.1555	.	324	Q2NL82	TSR1_HUMAN	I	324	ENSP00000301364:M324I	ENSP00000301364:M324I	M	-	3	0	TSR1	2184525	0.223000	0.23663	0.014000	0.15608	0.511000	0.34104	1.401000	0.34589	1.275000	0.44379	0.655000	0.94253	ATG	TSR1	-	NULL		0.408	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	C	NM_018128		2237775	-1	no_errors	ENST00000301364	ensembl	human	known	70_37	missense	SNP	0.793	T	T	2237775	C	T	2237775	3	4	147	1	0	0	0	0	1	0	0	0	16695	594	21	4	1486	4	TSR1	17	2237775	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	781463	2237775	78957435	900	24154										
MNT	4335	genome.wustl.edu	37	chr17	2291254	2291254	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cactggctcagctcgtgcttGagctctgccagccgctgctg	12	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:2291254G>C	ENST00000174618.4	-	5	1302	c.897C>G	c.(895-897)ctC>ctG	p.L299L	MNT_ENST00000575394.1_3'UTR|MNT_ENST00000575374.1_5'UTR|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	299	Leucine-zipper.				cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GCTCGTGCTTGAGCTCTGCCA	0.617																																																	0													64	49	54					17																	2291254		2200	4300	6500	SO:0001819	synonymous_variant	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.897C>G	17.37:g.2291254G>C			A8K6D1|D3DTI7|Q1ED38	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L299	ENST00000174618.4	37	c.897	CCDS11018.1	17																																																																																			MNT	-	superfamily_HLH_dom		0.617	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	G	NM_020310		2291254	-1	no_errors	ENST00000174618	ensembl	human	known	70_37	silent	SNP	1.000	C	C	2291254	G	C	2291254	2	2	147	1	0	0	0	0	0	0	0	1	9701	1277	45	1		1	MNT	17	2291254	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	53479	2291254	78903956	901	24155										
MYBBP1A	10514	genome.wustl.edu	37	chr17	4455782	4455782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgagaataggttcacggatCccaccagcttcttgagcttg	10	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:4455782C>T	ENST00000254718.4	-	6	1007	c.701G>A	c.(700-702)gGa>gAa	p.G234E	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G234E			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	234	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTTCACGGATCCCACCAGCTT	0.572																																																	0													66	61	63					17																	4455782		2203	4300	6503	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.701G>A	17.37:g.4455782C>T	ENSP00000254718:p.Gly234Glu		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.G234E	ENST00000254718.4	37	c.701	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486418	0.84854	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.19532	2.14;2.14	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06197	-1.0840	10	0.15952	T	0.53	-18.0522	17.084	0.86605	0.0:1.0:0.0:0.0	.	234;234	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	E	234	ENSP00000370968:G234E;ENSP00000254718:G234E	ENSP00000254718:G234E	G	-	2	0	MYBBP1A	4402531	1.000000	0.71417	0.928000	0.36995	0.487000	0.33371	6.229000	0.72294	2.894000	0.99253	0.655000	0.94253	GGA	MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold		0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	C	NM_014520		4455782	-1	no_errors	ENST00000381556	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4455782	C	T	4455782	3	4	147	1	0	0	0	0	1	0	0	0	10031	855	30	1	3409	1	MYBBP1A	17	4455782	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2164528	4455782	76739428	902	24156										
MED11	400569	genome.wustl.edu	37	chr17	4636385	4636385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgagggctccagctactcttCgaggaaggactgtcagatgg	14	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:4636385C>T	ENST00000293777.5	+	3	313	c.257C>T	c.(256-258)tCg>tTg	p.S86L	MED11_ENST00000575284.1_3'UTR|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	86						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						AGCTACTCTTCGAGGAAGGAC	0.557																																																	0													94	80	85					17																	4636385		2203	4300	6503	SO:0001583	missense	400569			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.257C>T	17.37:g.4636385C>T	ENSP00000293777:p.Ser86Leu		Q6NS89	Missense_Mutation	SNP	pfam_Mediator_Med11	p.S86L	ENST00000293777.5	37	c.257	CCDS32533.1	17	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816690	0.70912	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.74	4.74	0.60224	.	0.163543	0.37669	N	0.001992	T	0.47040	0.1424	L	0.38175	1.15	0.41743	D	0.989629	B	0.34313	0.448	B	0.29440	0.102	T	0.51631	-0.8681	9	0.66056	D	0.02	-22.7906	14.2205	0.65823	0.0:0.8492:0.1508:0.0	.	86	Q9P086	MED11_HUMAN	L	86	.	ENSP00000293777:S86L	S	+	2	0	MED11	4583134	0.999000	0.42202	0.893000	0.35052	0.967000	0.64934	4.595000	0.61048	1.365000	0.46057	0.655000	0.94253	TCG	MED11	-	pfam_Mediator_Med11		0.557	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED11	HGNC	protein_coding	OTTHUMT00000439574.1	C	NM_001001683		4636385	1	no_errors	ENST00000293777	ensembl	human	known	70_37	missense	SNP	0.989	T	T	4636385	C	T	4636385	3	4	147	1	0	0	0	0	1	0	0	0	9450	893	31	1	267	1	MED11	17	4636385	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	180603	4636385	76558825	903	24157										
MINK1	50488	genome.wustl.edu	37	chr17	4795728	4795728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actccgcctggcaaatctatCtgcaaaggcgggcagagcgg	13	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:4795728C>T	ENST00000355280.6	+	18	2315	c.2119C>T	c.(2119-2121)Ctg>Ttg	p.L707L	MINK1_ENST00000347992.7_Intron|MINK1_ENST00000453408.3_Silent_p.L687L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAAATCTATCTGCAAAGGCG	0.682																																																	0													5	7	6					17																	4795728		1774	3996	5770	SO:0001819	synonymous_variant	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2119C>T	17.37:g.4795728C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L707	ENST00000355280.6	37	c.2119	CCDS45588.1	17																																																																																			MINK1	-	NULL		0.682	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	C	NM_015716		4795728	1	no_errors	ENST00000355280	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4795728	C	T	4795728	2	4	147	1	0	0	0	0	0	0	0	1	9610	912	32	1		1	MINK1	17	4795728	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	159343	4795728	76399482	904	24158										
GABARAP	11337	genome.wustl.edu	37	chr17	7144732	7144732	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaagaaaaacaaggcatcctCagctcggagatgaattcgct	9	9	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7144732C>T	ENST00000302386.5	-	3	656	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PHF23_ENST00000320316.3_5'Flank|PHF23_ENST00000576955.1_5'Flank|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571253.1_5'UTR|PHF23_ENST00000454255.2_5'Flank|PHF23_ENST00000571362.1_5'Flank|GABARAP_ENST00000573928.1_Missense_Mutation_p.E73K	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	73	Interaction with GPHN. {ECO:0000250}.				autophagy (GO:0006914)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|microtubule cytoskeleton organization (GO:0000226)|protein targeting (GO:0006605)|synaptic transmission (GO:0007268)	actin cytoskeleton (GO:0015629)|autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			breast(1)|lung(2)	3						AAGGCATCCTCAGCTCGGAGA	0.468																																																	0													207	215	212					17																	7144732		2203	4300	6503	SO:0001583	missense	11337			AF161586	CCDS11092.1	17p13.1	2014-02-12			ENSG00000170296	ENSG00000170296			4067	protein-coding gene	gene with protein product		605125				9892355	Standard	NM_007278		Approved	MM46, ATG8A	uc002gfb.3	O95166	OTTHUMG00000102156	ENST00000302386.5:c.217G>A	17.37:g.7144732C>T	ENSP00000306866:p.Glu73Lys			Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.E73K	ENST00000302386.5	37	c.217	CCDS11092.1	17	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619751	0.87460	.	.	ENSG00000170296	ENST00000302386	T	0.48201	0.82	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.84156	2.68	0.80722	D	1	P	0.36974	0.576	B	0.38296	0.27	T	0.64162	-0.6472	10	0.62326	D	0.03	-12.9688	15.0989	0.72256	0.0:1.0:0.0:0.0	.	73	O95166	GBRAP_HUMAN	K	73	ENSP00000306866:E73K	ENSP00000306866:E73K	E	-	1	0	GABARAP	7085456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.109000	0.77062	2.145000	0.66743	0.591000	0.81541	GAG	GABARAP	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.468	GABARAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAP	HGNC	protein_coding	OTTHUMT00000220000.2	C			7144732	-1	no_errors	ENST00000302386	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7144732	C	T	7144732	3	4	147	1	0	0	0	0	1	0	0	0	6170	835	29	1	144	1	GABARAP	17	7144732	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2349004	7144732	74050478	905	24159										
SOX15	6665	genome.wustl.edu	37	chr17	7492582	7492582	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgccgctggccaggttgcctCttccctgtccgcagcgggaa	13	16	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7492582C>G	ENST00000250055.2	-	1	906	c.413G>C	c.(412-414)aGa>aCa	p.R138T	MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_Missense_Mutation_p.R138T|SOX15_ENST00000570788.1_Missense_Mutation_p.R138T|FXR2_ENST00000573057.1_5'Flank	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	138					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						CAGGTTGCCTCTTCCCTGTCC	0.711											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8	7	7					17																	7492582		2143	4174	6317	SO:0001583	missense	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"SRY (sex determining region Y)-boxes"	11196	protein-coding gene	gene with protein product		601297	"SRY (sex determining region Y)-box 20"	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.413G>C	17.37:g.7492582C>G	ENSP00000355354:p.Arg138Thr	642	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R138T	ENST00000250055.2	37	c.413	CCDS32549.1	17	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053304	0.55218	.	.	ENSG00000129194	ENST00000250055;ENST00000538513	D;D	0.95272	-3.66;-3.66	5.27	3.29	0.37713	.	2.700690	0.01100	N	0.005354	D	0.87103	0.6094	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.77664	-0.2503	10	0.10636	T	0.68	.	7.2246	0.26007	0.0:0.7293:0.0:0.2707	.	138	O60248	SOX15_HUMAN	T	138	ENSP00000355354:R138T;ENSP00000439311:R138T	ENSP00000355354:R138T	R	-	2	0	SOX15	7433306	0.000000	0.05858	0.113000	0.21522	0.542000	0.35054	0.214000	0.17541	0.635000	0.30488	0.555000	0.69702	AGA	SOX15	-	NULL		0.711	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	C	NM_006942		7492582	-1	no_errors	ENST00000250055	ensembl	human	known	70_37	missense	SNP	0.000	G	G	7492582	C	G	7492582	3	3	147	1	0	0	0	0	1	0	0	0	14976	913	32	1	296	1	SOX15	17	7492582	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	347850	7492582	73702628	906	24160										
TP53	7157	genome.wustl.edu	37	chr17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acaggcacaaacacgcacctCaaagctgttccgtcccagta	7	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)											58	51	54					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.E271K	ENST00000269305.4	37	c.811	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577127	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7577127	C	T	7577127	3	4	147	1	0	0	0	0	1	0	0	0	16412	835	29	1	475	1	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	84545	7577127	73618083	907	24161										
TP53	7157	genome.wustl.edu	37	chr17	7578269	7578269	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atttccttccactcggataaGatgctgaggaggggccagac	12	10	0	3	rs587780071		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7578269G>A	ENST00000269305.4	-	6	769	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	TP53_ENST00000455263.2_Missense_Mutation_p.L194F|TP53_ENST00000413465.2_Missense_Mutation_p.L194F|TP53_ENST00000359597.4_Missense_Mutation_p.L194F|TP53_ENST00000445888.2_Missense_Mutation_p.L194F|TP53_ENST00000420246.2_Missense_Mutation_p.L194F|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; 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.L194F(17)|p.0?(8)|p.?(6)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.L194fs*52(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)	ACTCGGATAAGATGCTGAGGA	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(19)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Complex - frameshift(1)	breast(8)|biliary_tract(6)|skin(6)|stomach(5)|large_intestine(4)|ovary(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|central_nervous_system(2)|oesophagus(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)											96	86	90					17																	7578269		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.580C>T	17.37:g.7578269G>A	ENSP00000269305:p.Leu194Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.L194F	ENST00000269305.4	37	c.580	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893556	0.52121	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.65975	2.015	0.80722	D	1	D;D;B;D;D;D;D	0.89917	0.974;1.0;0.411;1.0;1.0;1.0;1.0	P;D;B;D;D;D;D	0.97110	0.905;1.0;0.415;0.999;1.0;1.0;1.0	D	0.96926	0.9677	10	0.87932	D	0	-29.6709	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194F;ENSP00000352610:L194F;ENSP00000269305:L194F;ENSP00000398846:L194F;ENSP00000391127:L194F;ENSP00000391478:L194F;ENSP00000425104:L62F;ENSP00000423862:L101F	ENSP00000269305:L194F	L	-	1	0	TP53	7518994	1.000000	0.71417	0.295000	0.24960	0.028000	0.11728	7.965000	0.87945	1.422000	0.47177	0.655000	0.94253	CTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7578269	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.996	A	A	7578269	G	A	7578269	3	1	147	1	0	0	0	0	1	0	0	0	16412	942	33	1	714	1	TP53	17	7578269	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1142	7578269	73616941	908	24162										
DNAH2	146754	genome.wustl.edu	37	chr17	7695367	7695367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acagctacctccgagagatcGagggctcctttcccaataag	9	13	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7695367G>A	ENST00000572933.1	+	45	8493	c.7033G>A	c.(7033-7035)Gag>Aag	p.E2345K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2345K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2345					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGAGAGATCGAGGGCTCCTT	0.562																																																	0													127	108	115					17																	7695367		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7033G>A	17.37:g.7695367G>A	ENSP00000458355:p.Glu2345Lys		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E2345K	ENST00000572933.1	37	c.7033	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.373342	0.95923	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22945	1.93	4.98	4.98	0.66077	.	0.064020	0.64402	D	0.000014	T	0.36193	0.0958	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.02294	-1.1181	10	0.15952	T	0.53	.	17.1946	0.86890	0.0:0.0:1.0:0.0	.	2345	Q9P225	DYH2_HUMAN	K	2345	ENSP00000373825:E2345K	ENSP00000353818:E2345K	E	+	1	0	DNAH2	7636092	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.450000	0.90340	2.581000	0.87130	0.643000	0.83706	GAG	DNAH2	-	NULL		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7695367	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7695367	G	A	7695367	3	1	147	1	0	0	0	0	1	0	0	0	4612	1059	37	1	7207	1	DNAH2	17	7695367	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	117098	7695367	73499843	909	24163										
DNAH2	146754	genome.wustl.edu	37	chr17	7721144	7721144	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaccctcaggcccaggccctGaaatggattaagaacatgga	11	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7721144G>C	ENST00000572933.1	+	67	11666	c.10206G>C	c.(10204-10206)ctG>ctC	p.L3402L	DNAH2_ENST00000389173.2_Silent_p.L3402L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3402	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAGGCCCTGAAATGGATTA	0.632																																																	0													52	49	50					17																	7721144		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10206G>C	17.37:g.7721144G>C			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L3402	ENST00000572933.1	37	c.10206	CCDS32551.1	17																																																																																			DNAH2	-	NULL		0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7721144	1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	0.998	C	C	7721144	G	C	7721144	2	2	147	1	0	0	0	0	0	0	0	1	4612	1277	45	1		1	DNAH2	17	7721144	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	25777	7721144	73474066	910	24164										
PER1	5187	genome.wustl.edu	37	chr17	8045610	8045610	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagggcacctggtaggtcatCatgacgcgctggtcagcatt	14	10	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:8045610C>T	ENST00000317276.4	-	21	3663	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.M1119I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1142					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGTAGGTCATCATGACGCGCT	0.592			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													68	64	65					17																	8045610		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3426G>A	17.37:g.8045610C>T	ENSP00000314420:p.Met1142Ile		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.M1142I	ENST00000317276.4	37	c.3426	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985841	0.74589	.	.	ENSG00000179094	ENST00000317276	T	0.16457	2.34	5.84	5.84	0.93424	Period circadian-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.77616	2.38	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.36237	-0.9756	10	0.72032	D	0.01	-18.1455	17.6318	0.88111	0.0:1.0:0.0:0.0	.	1142	O15534	PER1_HUMAN	I	1142	ENSP00000314420:M1142I	ENSP00000314420:M1142I	M	-	3	0	PER1	7986335	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.468000	0.80943	2.779000	0.95612	0.655000	0.94253	ATG	PER1	-	pfam_Period_circadian-like_C		0.592	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	C			8045610	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8045610	C	T	8045610	3	4	147	1	0	0	0	0	1	0	0	0	11753	826	29	1	458	1	PER1	17	8045610	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	324466	8045610	73149600	911	24165										
MYH10	4628	genome.wustl.edu	37	chr17	8397165	8397165	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agctgccggatccgactgctCaggtttagtttctggcgtgt	13	10	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:8397165C>G	ENST00000269243.4	-	30	4140	c.4002G>C	c.(4000-4002)ctG>ctC	p.L1334L	MYH10_ENST00000360416.3_Silent_p.L1365L|MYH10_ENST00000396239.1_Silent_p.L1355L|MYH10_ENST00000379980.4_Silent_p.L1350L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1334					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCGACTGCTCAGGTTTAGTT	0.493																																																	0													120	115	116					17																	8397165		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4002G>C	17.37:g.8397165C>G			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1355	ENST00000269243.4	37	c.4065	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_tail		0.493	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8397165	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	0.985	G	G	8397165	C	G	8397165	2	3	147	1	0	0	0	0	0	0	0	1	10053	813	29	1		1	MYH10	17	8397165	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	351555	8397165	72798045	912	24166										
MYH13	8735	genome.wustl.edu	37	chr17	10261124	10261124	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcagtgggttggcctggatGatctgatcctctagggttcc	14	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10261124G>C	ENST00000418404.3	-	7	829	c.666C>G	c.(664-666)atC>atG	p.I222M	MYH13_ENST00000252172.4_Missense_Mutation_p.I222M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	222	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCTGGATGATCTGATCCT	0.443																																																	0													89	96	94					17																	10261124		2175	4293	6468	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.666C>G	17.37:g.10261124G>C	ENSP00000404570:p.Ile222Met		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I222M	ENST00000418404.3	37	c.666	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457429	0.43634	.	.	ENSG00000006788	ENST00000252172	D	0.90261	-2.64	3.94	0.698	0.18087	Myosin head, motor domain (2);	.	.	.	.	D	0.96275	0.8785	H	0.98133	4.155	0.33543	D	0.595184	D	0.53312	0.959	D	0.72338	0.977	D	0.94208	0.7456	9	0.87932	D	0	.	6.5345	0.22346	0.1595:0.0:0.696:0.1444	.	222	Q9UKX3	MYH13_HUMAN	M	222	ENSP00000252172:I222M	ENSP00000252172:I222M	I	-	3	3	MYH13	10201849	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	2.594000	0.46189	0.087000	0.17167	-0.363000	0.07495	ATC	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.443	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10261124	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10261124	G	C	10261124	3	2	147	1	0	0	0	0	1	0	0	0	10055	1280	45	1	5286	1	MYH13	17	10261124	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1863959	10261124	70934086	913	24167										
MYH8	4626	genome.wustl.edu	37	chr17	10297722	10297722	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acaattgccagctgttccttGaggtcctcctggccccggag	11	14	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10297722G>A	ENST00000403437.2	-	35	5104	c.5010C>T	c.(5008-5010)ctC>ctT	p.L1670L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1670					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGTTCCTTGAGGTCCTCCT	0.522									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													78	73	74					17																	10297722		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5010C>T	17.37:g.10297722G>A			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1670	ENST00000403437.2	37	c.5010	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail		0.522	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10297722	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	silent	SNP	0.999	A	A	10297722	G	A	10297722	2	1	147	1	0	0	0	0	0	0	0	1	10064	1277	45	1		1	MYH8	17	10297722	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	36598	10297722	70897488	914	24168										
MYH2	4620	genome.wustl.edu	37	chr17	10429087	10429087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacatcaagcatgaggtcctCgacctcattctgcagccgct	8	15	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10429087C>T	ENST00000245503.5	-	31	4678	c.4294G>A	c.(4294-4296)Gag>Aag	p.E1432K	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1432Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAGGTCCTCGACCTCATTC	0.542																																																	1	Substitution - Missense(1)	lung(1)											87	81	83					17																	10429087		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4294G>A	17.37:g.10429087C>T	ENSP00000245503:p.Glu1432Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1432K	ENST00000245503.5	37	c.4294	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.362439	0.95877	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.81659	-1.52;-1.52	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.89914	0.6853	M	0.91872	3.25	0.58432	D	0.999999	P	0.52316	0.952	P	0.54238	0.746	D	0.92366	0.5901	10	0.87932	D	0	.	18.2698	0.90064	0.0:1.0:0.0:0.0	.	1432	Q9UKX2	MYH2_HUMAN	K	1432	ENSP00000245503:E1432K;ENSP00000380367:E1432K	ENSP00000245503:E1432K	E	-	1	0	MYH2	10369812	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	7.651000	0.83577	2.558000	0.86282	0.313000	0.20887	GAG	MYH2	-	pfam_Myosin_tail		0.542	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10429087	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10429087	C	T	10429087	3	4	147	1	0	0	0	0	1	0	0	0	10058	893	31	1	1571	1	MYH2	17	10429087	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	131365	10429087	70766123	915	24169										
PIRT	644139	genome.wustl.edu	37	chr17	10728847	10728847	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggggtggtggtccagacaGactcgctcctggagctgatg	17	9	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10728847G>A	ENST00000580256.2	-	2	754	c.116C>T	c.(115-117)tCt>tTt	p.S39F		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	39						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGTCCAGACAGACTCGCTCCT	0.592																																																	0													41	42	42					17																	10728847		2027	4166	6193	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.116C>T	17.37:g.10728847G>A	ENSP00000462046:p.Ser39Phe		B7Z648	Missense_Mutation	SNP	NULL	p.S39F	ENST00000580256.2	37	c.116	CCDS45614.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618977	0.87460	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.66982	0.2845	L	0.29908	0.895	0.54753	D	0.999982	D	0.76494	0.999	D	0.87578	0.998	T	0.69254	-0.5193	8	0.87932	D	0	-21.1532	16.8609	0.86018	0.0:0.0:1.0:0.0	.	39	P0C851	PIRT_HUMAN	F	39	.	ENSP00000408936:S39F	S	-	2	0	PIRT	10669572	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.771000	0.85420	2.840000	0.97914	0.655000	0.94253	TCT	PIRT	-	NULL		0.592	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	G	NM_001101387		10728847	-1	no_errors	ENST00000580256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10728847	G	A	10728847	3	1	147	1	0	0	0	0	1	0	0	0	11969	942	33	1	301	1	PIRT	17	10728847	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	299760	10728847	70466363	916	24170										
ZNF287	57336	genome.wustl.edu	37	chr17	16456437	16456437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctgccttcattatacacaGaagttttattatctaattgg	5	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16456437G>A	ENST00000395824.1	-	6	1636	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	ZNF287_ENST00000395825.3_Missense_Mutation_p.S340F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	333					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTATACACAGAAGTTTTATT	0.313																																																	0													59	57	58					17																	16456437		2203	4300	6503	SO:0001583	missense	57336			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1019C>T	17.37:g.16456437G>A	ENSP00000379168:p.Ser340Phe		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S340F	ENST00000395824.1	37	c.1019	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.162323	0.00318	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.05649	3.41;3.41	4.46	-3.58	0.04597	.	1.102560	0.06897	N	0.805243	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46582	-0.9181	10	0.31617	T	0.26	.	6.212	0.20633	0.5545:0.0:0.3122:0.1334	.	333	Q9HBT7	ZN287_HUMAN	F	340	ENSP00000379169:S340F;ENSP00000379168:S340F	ENSP00000379168:S340F	S	-	2	0	ZNF287	16397162	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.437000	0.02419	-0.617000	0.05664	-0.924000	0.02725	TCT	ZNF287	-	NULL		0.313	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	G			16456437	-1	no_errors	ENST00000395824	ensembl	human	known	70_37	missense	SNP	0.001	A	A	16456437	G	A	16456437	3	1	147	1	0	0	0	0	1	0	0	0	17855	942	33	1	1270	1	ZNF287	17	16456437	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5727590	16456437	64738773	917	24171										
TNFRSF13B	23495	genome.wustl.edu	37	chr17	16843713	16843713	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagggatcccccctcttcttGaggaagcaggccaccgccac	10	17	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16843713G>A	ENST00000261652.2	-	4	570	c.558C>T	c.(556-558)ctC>ctT	p.L186L	TNFRSF13B_ENST00000583789.1_Silent_p.L140L|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Silent_p.L140L|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	186					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCCTCTTCTTGAGGAAGCAGG	0.642									IgA Deficiency, Selective																																								0													71	71	71					17																	16843713		2203	4300	6503	SO:0001819	synonymous_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.558C>T	17.37:g.16843713G>A			B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.L186	ENST00000261652.2	37	c.558	CCDS11181.1	17																																																																																			TNFRSF13B	-	NULL		0.642	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	G			16843713	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16843713	G	A	16843713	2	1	147	1	0	0	0	0	0	0	0	1	16317	1277	45	1		1	TNFRSF13B	17	16843713	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	387276	16843713	64351497	918	24172										
TRIM16L	147166	genome.wustl.edu	37	chr17	18638431	18638431	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acctgcaaaggcatcgaccaGaaaggggaggagcgcagcag	15	10	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:18638431G>A	ENST00000449552.2	+	7	2189	c.705G>A	c.(703-705)caG>caA	p.Q235Q	TRIM16L_ENST00000395671.4_Silent_p.Q235Q|TRIM16L_ENST00000395902.3_Silent_p.Q289Q|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395672.2_Silent_p.Q235Q|TRIM16L_ENST00000571708.1_Silent_p.Q235Q|TRIM16L_ENST00000572555.1_Silent_p.Q235Q			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCATCGACCAGAAAGGGGAGG	0.552																																																	0													90	84	86					17																	18638431		2203	4300	6503	SO:0001819	synonymous_variant	147166			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.705G>A	17.37:g.18638431G>A			A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.Q289	ENST00000449552.2	37	c.867	CCDS32588.1	17																																																																																			TRIM16L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.552	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	G	NM_001037330		18638431	1	no_errors	ENST00000395902	ensembl	human	known	70_37	silent	SNP	0.999	A	A	18638431	G	A	18638431	2	1	147	1	0	0	0	0	0	0	0	1	16523	933	33	1		1	TRIM16L	17	18638431	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1794718	18638431	62556779	919	24173										
FAM83G	644815	genome.wustl.edu	37	chr17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccattgtcctcgggcccctGagaggggcccgtgccccgag	14	17	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																																	0																																										SO:0001587	stop_gained	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*		Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	pfam_DUF1669	p.Q88*	ENST00000388995.6	37	c.262	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG	FAM83G	-	pfam_DUF1669		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	G			18907093	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	18907093	G	A	18907093	4	1	147	1	0	0	0	0	0	1	0	0	5657	1299	45	1	2229	1	FAM83G	17	18907093	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	268662	18907093	62288117	920	24174										
MFAP4	4239	genome.wustl.edu	37	chr17	19290081	19290081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggctgcttaccatctcctCggatcccggagacctggggg	15	13	1	1	rs372745312		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:19290081C>T	ENST00000299610.4	-	2	161	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.R51Q|MFAP4_ENST00000395592.2_Missense_Mutation_p.R50Q	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	26					cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACCATCTCCTCGGATCCCGGA	0.667																																																	0								C	GLN/ARG,GLN/ARG	0,4352		0,0,2176	13	14	14		149,77	4	1	17		14	1,8559		0,1,4279	no	missense,missense	MFAP4	NM_001198695.1,NM_002404.2	43,43	0,1,6455	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	50/280,26/256	19290081	1,12911	2176	4280	6456	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.77G>A	17.37:g.19290081C>T	ENSP00000299610:p.Arg26Gln		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R50Q	ENST00000299610.4	37	c.149	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235907	0.58886	0.0	1.17E-4	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.54479	0.57;0.58	5.02	4.04	0.47022	.	0.494869	0.17154	N	0.184957	T	0.31071	0.0785	N	0.19112	0.55	0.30895	N	0.72992	B;D	0.58620	0.01;0.983	B;B	0.37731	0.001;0.257	T	0.14839	-1.0458	10	0.14252	T	0.57	.	11.1069	0.48207	0.1852:0.8148:0.0:0.0	.	26;50	P55083;A8MVM2	MFAP4_HUMAN;.	Q	50;26	ENSP00000378957:R50Q;ENSP00000299610:R26Q	ENSP00000299610:R26Q	R	-	2	0	MFAP4	19230674	0.910000	0.30920	0.999000	0.59377	0.847000	0.48162	1.513000	0.35823	1.236000	0.43740	0.549000	0.68633	CGA	MFAP4	-	NULL		0.667	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19290081	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19290081	C	T	19290081	3	4	147	1	0	0	0	0	1	0	0	0	9540	884	31	1	710	1	MFAP4	17	19290081	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	382988	19290081	61905129	921	24175										
LGALS9	3965	genome.wustl.edu	37	chr17	25958316	25958316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttcagcggttcccaggctCcctacctgagtccagtgagt	10	15	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:25958316C>T	ENST00000395473.2	+	1	1493	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.P9S|LGALS9_ENST00000448970.2_3'UTR|AC015688.3_ENST00000584605.1_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.P9S|LGALS9_ENST00000302228.5_Missense_Mutation_p.P9S	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	9					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TTCCCAGGCTCCCTACCTGAG	0.607																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)												0													66	64	65					17																	25958316		2203	4300	6503	SO:0001583	missense	3965			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.25C>T	17.37:g.25958316C>T	ENSP00000378856:p.Pro9Ser		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.P9S	ENST00000395473.2	37	c.25	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	C	3.198	-0.164364	0.06502	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.57	-0.709	0.11237	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.363023	0.24384	N	0.038987	T	0.10208	0.0250	M	0.64630	1.985	0.22521	N	0.999025	P;B;B	0.37864	0.61;0.063;0.13	B;B;B	0.34991	0.193;0.015;0.023	T	0.16276	-1.0408	10	0.51188	T	0.08	.	1.2962	0.02070	0.2252:0.4167:0.2201:0.138	.	9;9;9	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	S	9	ENSP00000378856:P9S;ENSP00000306228:P9S;ENSP00000312259:P9S;ENSP00000318214:P9S	ENSP00000306228:P9S	P	+	1	0	LGALS9	22982443	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-0.039000	0.12124	-0.094000	0.12374	-1.452000	0.01034	CCC	LGALS9	-	superfamily_ConA-like_lec_gl_sf		0.607	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	C	NM_009587		25958316	1	no_errors	ENST00000395473	ensembl	human	known	70_37	missense	SNP	0.013	T	T	25958316	C	T	25958316	3	4	147	1	0	0	0	0	1	0	0	0	8768	855	30	1	27	1	LGALS9	17	25958316	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6668235	25958316	55236894	922	24176										
VTN	7448	genome.wustl.edu	37	chr17	26695897	26695897	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accaccccctgagtacccttGaagaagtagacccgctcccg	8	17	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:26695897G>A	ENST00000226218.4	-	5	1440	c.822C>T	c.(820-822)ttC>ttT	p.F274F	CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	274					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GAGTACCCTTGAAGAAGTAGA	0.592																																																	0													71	62	65					17																	26695897		2203	4300	6503	SO:0001819	synonymous_variant	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.822C>T	17.37:g.26695897G>A			B2R7G0|P01141|Q9BSH7	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.F274	ENST00000226218.4	37	c.822	CCDS11229.1	17																																																																																			VTN	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	G	NM_000638		26695897	-1	no_errors	ENST00000226218	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26695897	G	A	26695897	2	1	147	1	0	0	0	0	0	0	0	1	17268	1281	45	1		1	VTN	17	26695897	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	737581	26695897	54499313	923	24177										
SUPT6H	6830	genome.wustl.edu	37	chr17	27024935	27024935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacccccagaaattagaggaGctgctcatcaaaactaagaa	7	10	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:27024935G>T	ENST00000314616.6	+	32	4618	c.4335G>T	c.(4333-4335)gaG>gaT	p.E1445D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1445D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1445					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATTAGAGGAGCTGCTCATCA	0.517																																																	0													98	93	95					17																	27024935		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4335G>T	17.37:g.27024935G>T	ENSP00000319104:p.Glu1445Asp		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E1445D	ENST00000314616.6	37	c.4335	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557557	0.65425	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.27975	0.815	0.80722	D	1	P	0.41524	0.753	B	0.38225	0.268	T	0.15867	-1.0422	9	0.23302	T	0.38	-23.1953	12.8974	0.58108	0.0742:0.0:0.9258:0.0	.	1445	Q7KZ85	SPT6H_HUMAN	D	1445	.	ENSP00000319104:E1445D	E	+	3	2	SUPT6H	24049062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.772000	0.55325	2.653000	0.90120	0.563000	0.77884	GAG	SUPT6H	-	pirsf_TF_Spt6		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	G	NM_003170		27024935	1	no_errors	ENST00000314616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27024935	G	T	27024935	3	4	147	1	0	0	0	0	1	0	0	0	15430	962	34	4	4457	4	SUPT6H	17	27024935	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	329038	27024935	54170275	924	24178										
MYO1D	4642	genome.wustl.edu	37	chr17	31048064	31048064	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgaagaaacttctcgtatgtCtggcggaaggcaaatcctgc	11	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:31048064C>T	ENST00000318217.5	-	15	2194	c.1890G>A	c.(1888-1890)caG>caA	p.Q630Q	MYO1D_ENST00000579584.1_Silent_p.Q630Q|MYO1D_ENST00000394649.4_Silent_p.Q542Q	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	630	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTCGTATGTCTGGCGGAAGG	0.488																																																	0													137	136	136					17																	31048064		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1890G>A	17.37:g.31048064C>T			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q630	ENST00000318217.5	37	c.1890	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.488	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	C			31048064	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31048064	C	T	31048064	2	4	147	1	0	0	0	0	0	0	0	1	10094	912	32	1		1	MYO1D	17	31048064	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4023129	31048064	50147146	925	24179										
GGNBP2	79893	genome.wustl.edu	37	chr17	34934549	34934549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtccacatgaacgacacataCatgtttgctgtgaaacagac	8	10	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:34934549C>T	ENST00000304718.4	+	7	1094	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACGACACATACATGTTTGCTG	0.448																																																	0													219	198	205					17																	34934549		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.778C>T	17.37:g.34934549C>T	ENSP00000307617:p.His260Tyr		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.H260Y	ENST00000304718.4	37	c.778	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791012	0.90367	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.964	T	0.78788	-0.2067	9	0.87932	D	0	-8.3832	19.7758	0.96391	0.0:1.0:0.0:0.0	.	260;260;260	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	Y	260	.	ENSP00000307617:H260Y	H	+	1	0	GGNBP2	32008662	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.194000	0.77789	2.681000	0.91329	0.585000	0.79938	CAT	GGNBP2	-	NULL		0.448	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	C	NM_024835		34934549	1	no_errors	ENST00000304718	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34934549	C	T	34934549	3	4	147	1	0	0	0	0	1	0	0	0	6378	478	17	4	800	4	GGNBP2	17	34934549	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3886485	34934549	46260661	926	24180										
SOCS7	30837	genome.wustl.edu	37	chr17	36521268	36521268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcagtctttccccctacctCcgcctcctccaccccatgcc	4	23	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36521268C>T	ENST00000577233.1	+	4	1036	c.1036C>T	c.(1036-1038)Ccg>Tcg	p.P346S	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	346	Mediates interaction with SORBS3.|Poly-Pro.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCCCTACCTCCGCCTCCTCC	0.502																																																	0													93	85	88					17																	36521268		2203	4300	6503	SO:0001583	missense	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1036C>T	17.37:g.36521268C>T	ENSP00000464034:p.Pro346Ser		A2VCU2|Q0IJ63	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.P346S	ENST00000577233.1	37	c.1036	CCDS32637.1	17	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858015	0.51376	.	.	ENSG00000174111	ENST00000331159	.	.	.	5.87	5.87	0.94306	.	0.177617	0.38436	N	0.001690	T	0.70640	0.3247	L	0.53249	1.67	0.45567	D	0.998511	D	0.64830	0.994	P	0.56343	0.796	T	0.62905	-0.6755	9	0.15952	T	0.53	-15.5038	19.8142	0.96558	0.0:1.0:0.0:0.0	.	346	O14512	SOCS7_HUMAN	S	346	.	ENSP00000330659:P346S	P	+	1	0	SOCS7	33774794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.248000	0.65421	2.780000	0.95670	0.655000	0.94253	CCG	SOCS7	-	NULL		0.502	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS7	HGNC	protein_coding	OTTHUMT00000440486.4	C	XM_371052		36521268	1	no_errors	ENST00000577233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36521268	C	T	36521268	3	4	147	1	0	0	0	0	1	0	0	0	14949	855	30	1	1050	1	SOCS7	17	36521268	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1586719	36521268	44673942	927	24181										
C17orf98	388381	genome.wustl.edu	37	chr17	36997501	36997501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtagctgcgggcgtggtagtCctgctgcgcgttgtagggcg	19	9	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36997501C>G	ENST00000398575.4	-	1	207	c.142G>C	c.(142-144)Gac>Cac	p.D48H		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	48										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GCGTGGTAGTCCTGCTGCGCG	0.617																																																	0													55	56	55					17																	36997501		1974	4157	6131	SO:0001583	missense	388381			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.142G>C	17.37:g.36997501C>G	ENSP00000381580:p.Asp48His			Missense_Mutation	SNP	NULL	p.D48H	ENST00000398575.4	37	c.142	CCDS42310.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346522	0.82022	.	.	ENSG00000214556	ENST00000398575	T	0.57752	0.38	5.16	5.16	0.70880	.	0.000000	0.40640	U	0.001058	T	0.71787	0.3381	M	0.72118	2.19	0.49299	D	0.999774	D	0.89917	1.0	D	0.91635	0.999	T	0.74562	-0.3624	10	0.87932	D	0	-30.7581	16.1916	0.81992	0.0:1.0:0.0:0.0	.	48	A8MV24	CQ098_HUMAN	H	48	ENSP00000381580:D48H	ENSP00000381580:D48H	D	-	1	0	C17orf98	34251027	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.797000	0.62503	2.687000	0.91594	0.462000	0.41574	GAC	C17orf98	-	NULL		0.617	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C17orf98	HGNC	protein_coding	OTTHUMT00000255469.2	C	NM_001080465		36997501	-1	no_errors	ENST00000398575	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36997501	C	G	36997501	3	3	147	1	0	0	0	0	1	0	0	0	1898	855	30	1	334	1	C17orf98	17	36997501	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	476233	36997501	44197709	928	24182										
MED24	9862	genome.wustl.edu	37	chr17	38182491	38182491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcagcgacttctcacgctCatccagccccagcatccgga	8	18	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:38182491C>T	ENST00000394128.2	-	19	1984	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	MED24_ENST00000501516.3_Missense_Mutation_p.E654K|MED24_ENST00000356271.3_Missense_Mutation_p.E622K|MED24_ENST00000394127.2_Missense_Mutation_p.E622K|MED24_ENST00000394126.1_Missense_Mutation_p.E660K|SNORD124_ENST00000459577.1_RNA	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	635					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TTCTCACGCTCATCCAGCCCC	0.562																																																	0													151	135	141					17																	38182491		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1903G>A	17.37:g.38182491C>T	ENSP00000377686:p.Glu635Lys		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.E635K	ENST00000394128.2	37	c.1903	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714861	0.68844	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.60797	0.16;0.16;0.16	4.79	4.79	0.61399	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.66939	2.045	0.80722	D	1	B;D;D;D;D	0.69078	0.447;0.996;0.996;0.997;0.996	B;D;D;D;D	0.79108	0.168;0.99;0.987;0.992;0.99	T	0.75371	-0.3341	10	0.48119	T	0.1	-25.9413	18.0401	0.89316	0.0:1.0:0.0:0.0	.	585;545;622;635;577	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	K	635;635;635;585;622;577;106;545	ENSP00000377686:E635K;ENSP00000443344:E585K;ENSP00000377685:E622K	ENSP00000348610:E635K	E	-	1	0	MED24	35436017	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.645000	0.83430	2.478000	0.83669	0.655000	0.94253	GAG	MED24	-	pfam_Mediator_Med24_N		0.562	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	C	NM_014815		38182491	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38182491	C	T	38182491	3	4	147	1	0	0	0	0	1	0	0	0	9465	835	29	1	1098	1	MED24	17	38182491	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1184990	38182491	43012719	929	24183										
SMARCE1	6605	genome.wustl.edu	37	chr17	38785201	38785201	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggagtagacgtgccttcttCaccattctgttggctctctg	10	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:38785201C>T	ENST00000348513.6	-	11	1852	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E340K|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E323K|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E288K|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E288K|SMARCE1_ENST00000377808.4_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	358	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				GTGCCTTCTTCACCATTCTGT	0.478																																																	0													127	104	112					17																	38785201		2203	4300	6503	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1072G>A	17.37:g.38785201C>T	ENSP00000323967:p.Glu358Lys		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E358K	ENST00000348513.6	37	c.1072	CCDS11370.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277502	0.80580	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889	T;T	0.19532	2.14;2.14	4.99	4.01	0.46588	.	0.227351	0.51477	D	0.000083	T	0.31857	0.0810	L	0.29908	0.895	0.52501	D	0.99995	D;P	0.63880	0.993;0.941	D;P	0.68192	0.956;0.5	T	0.03473	-1.1033	10	0.28530	T	0.3	.	15.2528	0.73561	0.1414:0.8586:0.0:0.0	.	323;358	C0IMW4;Q969G3	.;SMCE1_HUMAN	K	358;288;340	ENSP00000323967:E358K;ENSP00000445370:E340K	ENSP00000323967:E358K	E	-	1	0	SMARCE1	36038727	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.710000	0.74670	1.443000	0.47586	0.655000	0.94253	GAA	SMARCE1	-	NULL		0.478	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	C	NM_003079		38785201	-1	no_errors	ENST00000348513	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38785201	C	T	38785201	3	4	147	1	0	0	0	0	1	0	0	0	14810	835	29	1	167	1	SMARCE1	17	38785201	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	602710	38785201	42410009	930	24184										
SMARCE1	6605	genome.wustl.edu	37	chr17	38787059	38787059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatgctgctctgactgcgctCagcttgctctgcggcctcct	11	15	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:38787059C>T	ENST00000348513.6	-	10	1714	c.934G>A	c.(934-936)Gag>Aag	p.E312K	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E294K|SMARCE1_ENST00000400122.3_Missense_Mutation_p.E242K|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E277K|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E242K|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E242K|SMARCE1_ENST00000377808.4_Missense_Mutation_p.E277K	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	312					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGACTGCGCTCAGCTTGCTCT	0.532																																																	0													276	224	241					17																	38787059		2203	4300	6503	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.934G>A	17.37:g.38787059C>T	ENSP00000323967:p.Glu312Lys		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E312K	ENST00000348513.6	37	c.934	CCDS11370.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013408	0.75161	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	T;T;T	0.20738	2.05;2.05;2.24	5.47	5.47	0.80525	.	0.046417	0.85682	D	0.000000	T	0.20455	0.0492	L	0.40543	1.245	0.50467	D	0.999872	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.06625	-1.0816	10	0.16420	T	0.52	.	19.7017	0.96057	0.0:1.0:0.0:0.0	.	277;277;312	C0IMW5;C0IMW4;Q969G3	.;.;SMCE1_HUMAN	K	312;242;294;277;106	ENSP00000323967:E312K;ENSP00000445370:E294K;ENSP00000367039:E277K	ENSP00000323967:E312K	E	-	1	0	SMARCE1	36040585	0.964000	0.33143	0.381000	0.26106	0.432000	0.31715	5.025000	0.64097	2.724000	0.93272	0.561000	0.74099	GAG	SMARCE1	-	NULL		0.532	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	C	NM_003079		38787059	-1	no_errors	ENST00000348513	ensembl	human	known	70_37	missense	SNP	0.996	T	T	38787059	C	T	38787059	3	4	147	1	0	0	0	0	1	0	0	0	14810	835	29	1	309	1	SMARCE1	17	38787059	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1858	38787059	42408151	931	24185										
KRT23	25984	genome.wustl.edu	37	chr17	39079242	39079242	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcggaaactttcattggtctCatgcgtgcttttggatttca	10	8	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:39079242C>T	ENST00000209718.3	-	9	1692	c.1268G>A	c.(1267-1269)tGa>tAa	p.*423*	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.*286*	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	0						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCATTGGTCTCATGCGTGCTT	0.428																																																	0													144	124	131					17																	39079242		2203	4300	6503	SO:0001819	synonymous_variant	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.1268G>A	17.37:g.39079242C>T			A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	pfam_F,prints_Keratin_I	p.*423	ENST00000209718.3	37	c.1268	CCDS11380.1	17																																																																																			KRT23	-	NULL		0.428	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	C			39079242	-1	no_errors	ENST00000209718	ensembl	human	known	70_37	silent	SNP	0.003	T	T	39079242	C	T	39079242	2	4	147	1	0	0	0	0	0	0	0	1	8480	837	29	1		1	KRT23	17	39079242	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	292183	39079242	42115968	932	24186										
KRT33A	3883	genome.wustl.edu	37	chr17	39505616	39505616	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acttggtcctgaagtcatctGaggccagcttggcattgtcg	12	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:39505616G>A	ENST00000007735.3	-	2	457	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	138	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S138L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAAGTCATCTGAGGCCAGCTT	0.502																																																	1	Substitution - Missense(1)	urinary_tract(1)											111	102	105					17																	39505616		2203	4300	6503	SO:0001583	missense	3883			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.413C>T	17.37:g.39505616G>A	ENSP00000007735:p.Ser138Leu		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S138L	ENST00000007735.3	37	c.413	CCDS11388.1	17	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030186	0.54790	.	.	ENSG00000006059	ENST00000007735	D	0.87179	-2.22	5.03	5.03	0.67393	Filament (1);	0.811364	0.10899	N	0.621819	T	0.76572	0.4006	N	0.02960	-0.455	0.28635	N	0.907452	B	0.06786	0.001	B	0.12837	0.008	T	0.68720	-0.5334	10	0.87932	D	0	.	17.8727	0.88815	0.0:0.0:1.0:0.0	.	138	O76009	KT33A_HUMAN	L	138	ENSP00000007735:S138L	ENSP00000007735:S138L	S	-	2	0	KRT33A	36759142	0.996000	0.38824	0.094000	0.20943	0.892000	0.51952	7.543000	0.82106	2.760000	0.94817	0.655000	0.94253	TCA	KRT33A	-	pfam_F,prints_Keratin_I		0.502	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	HGNC	protein_coding	OTTHUMT00000257295.1	G	NM_004138		39505616	-1	no_errors	ENST00000007735	ensembl	human	known	70_37	missense	SNP	0.587	A	A	39505616	G	A	39505616	3	1	147	1	0	0	0	0	1	0	0	0	8489	1294	45	1	825	1	KRT33A	17	39505616	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	426374	39505616	41689594	933	24187										
KRT14	3861	genome.wustl.edu	37	chr17	39742949	39742949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagacagacaggccgcccccGtaggtgctgggggcgcggca	18	13	0	2	rs565122423	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:39742949G>A	ENST00000167586.6	-	1	224	c.138C>T	c.(136-138)taC>taT	p.Y46Y		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	46	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GGCCGCCCCCGTAGGTGCTGG	0.731													G|||	3	0.000599042	8e-04	0	5008	,	,		12898	0.002		0	False		,,,				2504	0																0													13	17	16					17																	39742949		2155	4213	6368	SO:0001819	synonymous_variant	3861			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.138C>T	17.37:g.39742949G>A			Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Y46	ENST00000167586.6	37	c.138	CCDS11400.1	17																																																																																			KRT14	-	NULL		0.731	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	G	NM_000526		39742949	-1	no_errors	ENST00000167586	ensembl	human	known	70_37	silent	SNP	0.086	A	A	39742949	G	A	39742949	2	1	147	1	0	0	0	0	0	0	0	1	8471	1140	40	2		2	KRT14	17	39742949	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	237333	39742949	41452261	934	24188										
TTC25	83538	genome.wustl.edu	37	chr17	40091994	40091994	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaggaagccatcaacaactCagtgggaagtgagtgaccac	11	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:40091994C>T	ENST00000591658.1	+	0	457							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATCAACAACTCAGTGGGAAGT	0.502																																																	0													54	53	54					17																	40091994		2005	4196	6201			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091994C>T			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	32	5.130683	0.94473	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.79	5.79	0.91817	.	0.114545	0.64402	D	0.000009	T	0.80391	0.4614	M	0.83603	2.65	0.38896	D	0.957218	P;D	0.71674	0.945;0.998	P;D	0.69142	0.778;0.962	T	0.82358	-0.0497	8	0.66056	D	0.02	-11.1499	16.5038	0.84263	0.0:0.8607:0.1393:0.0	.	130;130	C9JGW6;Q96NG3	.;TTC25_HUMAN	L	130	.	ENSP00000366763:S130L	S	+	2	0	AC091172.1	37345520	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.881000	0.69706	2.735000	0.93741	0.655000	0.94253	TCA	TTC25	-	-		0.502	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	C	NM_031421		40091994	1	no_errors	ENST00000377540	ensembl	human	known	70_37	rna	SNP	1.000	T	T	40091994	C	T	40091994	1	4	147	0	1	0	0	0	0	0	0	0	16724	838	29	1		1	TTC25	17	40091994	RNA	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	349045	40091994	41103216	935	24189										
G6PC	2538	genome.wustl.edu	37	chr17	41063215	41063215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aactccagcatgtacagggaGagctgcaaggggaaactcag	13	9	1	1	rs374980545		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:41063215G>C	ENST00000253801.2	+	5	925	c.846G>C	c.(844-846)gaG>gaC	p.E282D	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	282					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTACAGGGAGAGCTGCAAGG	0.572																																																	0													89	83	85					17																	41063215		2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.846G>C	17.37:g.41063215G>C	ENSP00000253801:p.Glu282Asp		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.E282D	ENST00000253801.2	37	c.846	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	G	3.383	-0.126010	0.06795	.	.	ENSG00000131482	ENST00000253801	T	0.75821	-0.97	4.94	1.65	0.23941	.	0.226787	0.42964	D	0.000623	T	0.52468	0.1736	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.14656	T	0.56	.	9.0672	0.36471	0.2209:0.1132:0.6659:0.0	.	282	P35575	G6PC_HUMAN	D	282	ENSP00000253801:E282D	ENSP00000253801:E282D	E	+	3	2	G6PC	38316741	1.000000	0.71417	0.935000	0.37517	0.343000	0.28985	1.338000	0.33873	0.288000	0.22398	-1.222000	0.01597	GAG	G6PC	-	pirsf_Glucose-6-phosphatase		0.572	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	G	NM_000151		41063215	1	no_errors	ENST00000253801	ensembl	human	known	70_37	missense	SNP	0.982	C	C	41063215	G	C	41063215	3	2	147	1	0	0	0	0	1	0	0	0	6161	933	33	1	864	1	G6PC	17	41063215	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	971221	41063215	40131995	936	24190										
AARSD1	80755	genome.wustl.edu	37	chr17	41113211	41113211	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccatcccagcctttacctGaatgctgctgcatgtggtca	8	15	1	1	rs34916785		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:41113211G>A	ENST00000427569.2	-	3	364	c.329C>T	c.(328-330)tCa>tTa	p.S110L	PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S193L|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S223L|AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S284L|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.S284L	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	110					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCTTTACCTGAATGCTGCTG	0.537																																																	0													250	245	247					17																	41113211		2203	4300	6503	SO:0001583	missense	100885850			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.329C>T	17.37:g.41113211G>A	ENSP00000400870:p.Ser110Leu		B4DI73	Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.S284L	ENST00000427569.2	37	c.851	CCDS58552.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.896046|4.896046	0.91962|0.91962	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|T;T	.|0.54071	.|0.59;0.59	4.18|4.18	4.18|4.18	0.49190|0.49190	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.72145	.|0.3424	M|M	0.75085|0.75085	2.285|2.285	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.999;0.998;0.998;0.998;1.0	.|D;D;P;D;D	.|0.76575	.|0.969;0.931;0.907;0.931;0.988	.|T	.|0.79264	.|-0.1875	.|9	.|0.87932	.|D	.|0	-27.7916|-27.7916	16.6939|16.6939	0.85329|0.85329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;284;193;241;110	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|L	116|223;284;284;110;193	.|ENSP00000386621:S284L;ENSP00000409924:S284L	.|ENSP00000353355:S223L	Q|S	-|-	1|2	0|0	AARSD1|AARSD1	38366737|38366737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	9.427000|9.427000	0.97472|0.97472	2.157000|2.157000	0.67596|0.67596	0.542000|0.542000	0.68232|0.68232	CAG|TCA	PTGES3L-AARSD1	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core		0.537	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding	OTTHUMT00000467729.1	G	NM_001261434		41113211	-1	no_errors	ENST00000409399	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41113211	G	A	41113211	3	1	147	1	0	0	0	0	1	0	0	0	21	1294	45	1	949	1	AARSD1	17	41113211	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	49996	41113211	40081999	937	24191										
SLC25A39	51629	genome.wustl.edu	37	chr17	42397999	42397999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtccactcaccgtccctgaGatgccaccagccacaaagct	7	17	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:42397999G>C	ENST00000377095.5	-	9	911	c.792C>G	c.(790-792)atC>atG	p.I264M	SLC25A39_ENST00000225308.8_Missense_Mutation_p.I256M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.I132M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.I256M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.I241M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	264					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGTCCCTGAGATGCCACCAG	0.597																																																	0													94	100	98					17																	42397999		2203	4300	6503	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.792C>G	17.37:g.42397999G>C	ENSP00000366299:p.Ile264Met		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.I264M	ENST00000377095.5	37	c.792	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649121	0.14516	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80909	-1.43;-1.43;-1.43	5.38	4.41	0.53225	Mitochondrial carrier domain (2);	0.377447	0.26196	N	0.025769	T	0.70631	0.3246	L	0.31120	0.905	0.43555	D	0.995862	B;B;B	0.25206	0.12;0.1;0.098	B;B;B	0.32980	0.156;0.071;0.067	T	0.67473	-0.5662	10	0.48119	T	0.1	-27.3952	6.9964	0.24784	0.1525:0.1442:0.7033:0.0	.	241;264;256	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	256;264;241	ENSP00000225308:I256M;ENSP00000366299:I264M;ENSP00000444540:I241M	ENSP00000225308:I256M	I	-	3	3	SLC25A39	39753525	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	0.909000	0.28558	1.502000	0.48669	-0.150000	0.13652	ATC	SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.597	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	G	NM_016016		42397999	-1	no_errors	ENST00000377095	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42397999	G	C	42397999	3	2	147	1	0	0	0	0	1	0	0	0	14533	932	33	1	303	1	SLC25A39	17	42397999	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1284788	42397999	38797211	938	24192										
GPATCH8	23131	genome.wustl.edu	37	chr17	42475866	42475866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagttgtttcctctgaaggGaactgatgcccaaatagggc	11	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:42475866G>C	ENST00000591680.1	-	8	3609	c.3579C>G	c.(3577-3579)ttC>ttG	p.F1193L	GPATCH8_ENST00000434000.1_Missense_Mutation_p.F1115L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1193							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTCTGAAGGGAACTGATGCC	0.547																																																	0													81	93	88					17																	42475866		2203	4299	6502	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3579C>G	17.37:g.42475866G>C	ENSP00000467556:p.Phe1193Leu		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.F1193L	ENST00000591680.1	37	c.3579	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209849	0.06140	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.10763	2.84	4.6	1.5	0.22942	.	0.433746	0.23343	N	0.049218	T	0.04770	0.0129	N	0.14661	0.345	0.35202	D	0.77434	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	10	0.10902	T	0.67	-9.0614	6.2674	0.20934	0.297:0.1251:0.5779:0.0	.	1193	Q9UKJ3	GPTC8_HUMAN	L	1193;1115	ENSP00000395016:F1115L	ENSP00000335486:F1193L	F	-	3	2	GPATCH8	39831392	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	0.765000	0.26546	0.275000	0.22094	0.557000	0.71058	TTC	GPATCH8	-	NULL		0.547	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42475866	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	missense	SNP	0.998	C	C	42475866	G	C	42475866	3	2	147	1	0	0	0	0	1	0	0	0	6613	1165	41	1	933	1	GPATCH8	17	42475866	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	77867	42475866	38719344	939	24193										
DBF4B	80174	genome.wustl.edu	37	chr17	42807339	42807339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccgcagagaagtaaaggcaGagagcagtgggaaaagccat	15	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:42807339G>A	ENST00000315005.3	+	4	430	c.292G>A	c.(292-294)Gag>Aag	p.E98K	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.E98K|DBF4B_ENST00000393547.2_Missense_Mutation_p.E98K	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	98	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AGTAAAGGCAGAGAGCAGTGG	0.517																																																	0													108	97	101					17																	42807339		2203	4300	6503	SO:0001583	missense	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.292G>A	17.37:g.42807339G>A	ENSP00000323663:p.Glu98Lys		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.E98K	ENST00000315005.3	37	c.292	CCDS11485.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891515	0.52014	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005	T;T;T	0.11277	2.79;2.79;2.79	4.99	4.03	0.46877	.	0.350840	0.24240	N	0.040278	T	0.17746	0.0426	L	0.47716	1.5	0.25850	N	0.983952	D;P;D;P	0.63880	0.988;0.932;0.993;0.932	P;P;P;D	0.64042	0.794;0.763;0.787;0.921	T	0.04495	-1.0947	10	0.08381	T	0.77	-23.0231	8.9896	0.36014	0.099:0.0:0.901:0.0	.	98;82;98;98	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	K	98	ENSP00000377178:E98K;ENSP00000381381:E98K;ENSP00000323663:E98K	ENSP00000323663:E98K	E	+	1	0	DBF4B	40162865	0.996000	0.38824	0.986000	0.45419	0.272000	0.26649	2.309000	0.43699	1.327000	0.45338	0.561000	0.74099	GAG	DBF4B	-	NULL		0.517	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DBF4B	HGNC	protein_coding	OTTHUMT00000385930.1	G	NM_025104		42807339	1	no_errors	ENST00000315005	ensembl	human	known	70_37	missense	SNP	0.998	A	A	42807339	G	A	42807339	3	1	147	1	0	0	0	0	1	0	0	0	4254	943	33	1	306	1	DBF4B	17	42807339	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	331473	42807339	38387871	940	24194										
C17orf46	124783	genome.wustl.edu	37	chr17	43333177	43333177	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaattcagactccacggtctGaaggtctgtggcgtgggcag	15	9	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:43333177G>A	ENST00000331780.4	-	4	467	c.372C>T	c.(370-372)ttC>ttT	p.F124F	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000543122.1_Silent_p.F103F|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	124					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TCCACGGTCTGAAGGTCTGTG	0.557																																																	0													118	114	115					17																	43333177		2203	4300	6503	SO:0001819	synonymous_variant	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.372C>T	17.37:g.43333177G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.F124	ENST00000331780.4	37	c.372	CCDS32669.1	17																																																																																			SPATA32	-	NULL		0.557	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43333177	-1	no_errors	ENST00000331780	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43333177	G	A	43333177	2	1	147	1	0	0	0	0	0	0	0	1	1861	1281	45	1		1	C17orf46	17	43333177	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	525838	43333177	37862033	941	24195										
NSF	4905	genome.wustl.edu	37	chr17	44770331	44770331	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attgatgccatctgcaagcaGagagggagcatggctggtag	15	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:44770331G>A	ENST00000398238.4	+	10	1115	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	NSF_ENST00000575068.1_Silent_p.Q331Q|NSF_ENST00000225282.8_Silent_p.Q242Q	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	336					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TCTGCAAGCAGAGAGGGAGCA	0.428																																					Ovarian(25;472 742 1472 36813 50223)												0													28	26	27					17																	44770331		1845	4077	5922	SO:0001819	synonymous_variant	4905				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"ATPases / AAA-type"	8016	protein-coding gene	gene with protein product	"N-ethylmaleimide-sensitive factor-like protein"	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1008G>A	17.37:g.44770331G>A			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.Q336	ENST00000398238.4	37	c.1008	CCDS42354.1	17																																																																																			NSF	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.428	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	G	NM_006178		44770331	1	no_errors	ENST00000398238	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44770331	G	A	44770331	2	1	147	1	0	0	0	0	0	0	0	1	10695	933	33	1		1	NSF	17	44770331	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1437154	44770331	36424879	942	24196										
SP6	80320	genome.wustl.edu	37	chr17	45925575	45925575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggtcctcgcaggttacccgcGaggaggcccctggcagctca	14	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:45925575G>A	ENST00000536300.1	-	2	552	c.221C>T	c.(220-222)tCg>tTg	p.S74L	SP6_ENST00000342234.2_Missense_Mutation_p.S74L	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	74					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GGTTACCCGCGAGGAGGCCCC	0.662																																																	0													17	20	19					17																	45925575		2197	4293	6490	SO:0001583	missense	80320				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.221C>T	17.37:g.45925575G>A	ENSP00000438209:p.Ser74Leu		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S74L	ENST00000536300.1	37	c.221	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041845	0.55003	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08282	3.11;3.11	4.29	4.29	0.51040	.	0.000000	0.39083	N	0.001468	T	0.03827	0.0108	N	0.08118	0	0.34461	D	0.701775	P	0.41420	0.749	B	0.32805	0.153	T	0.46162	-0.9211	10	0.34782	T	0.22	.	11.6654	0.51370	0.0:0.1801:0.8199:0.0	.	74	Q3SY56	SP6_HUMAN	L	74	ENSP00000340799:S74L;ENSP00000438209:S74L	ENSP00000340799:S74L	S	-	2	0	SP6	43280574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.543000	0.73874	2.217000	0.71921	0.462000	0.41574	TCG	SP6	-	NULL		0.662	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	G	NM_199262		45925575	-1	no_errors	ENST00000342234	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45925575	G	A	45925575	3	1	147	1	0	0	0	0	1	0	0	0	14998	1059	37	1	913	1	SP6	17	45925575	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1155244	45925575	35269635	943	24197										
HOXB2	3212	genome.wustl.edu	37	chr17	46622258	46622258	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tataaacccaatctccctctCaaattcaaaattcatggctt	2	12	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:46622258C>A	ENST00000330070.4	-	1	1183	c.16G>T	c.(16-18)Gag>Tag	p.E6*	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	6					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ATCTCCCTCTCAAATTCAAAA	0.572																																																	0													32	38	36					17																	46622258		2203	4300	6503	SO:0001587	stop_gained	3212				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.16G>T	17.37:g.46622258C>A	ENSP00000331741:p.Glu6*		P10913|P17485	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E6*	ENST00000330070.4	37	c.16	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	C	47	13.296402	0.99733	.	.	ENSG00000173917	ENST00000330070	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8006	0.85613	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000331741:E6X	E	-	1	0	HOXB2	43977257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.197000	0.77814	2.560000	0.86352	0.650000	0.86243	GAG	HOXB2	-	NULL		0.572	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	C			46622258	-1	no_errors	ENST00000330070	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46622258	C	A	46622258	4	1	147	1	0	0	0	0	0	1	0	0	7321	835	29	3	1062	3	HOXB2	17	46622258	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	696683	46622258	34572952	944	24198										
HOXB5	3215	genome.wustl.edu	37	chr17	46670955	46670955	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggatccctgtaagagccgctCagagagctgccactgccata	11	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:46670955C>G	ENST00000239151.5	-	1	368	c.90G>C	c.(88-90)ctG>ctC	p.L30L	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	30					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						AAGAGCCGCTCAGAGAGCTGC	0.537																																																	0													36	36	36					17																	46670955		1965	3907	5872	SO:0001819	synonymous_variant	3215				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.90G>C	17.37:g.46670955C>G			B2RC69|P09069|Q17RP4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.L30	ENST00000239151.5	37	c.90	CCDS11530.1	17																																																																																			HOXB5	-	NULL		0.537	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB5	HGNC	protein_coding	OTTHUMT00000358148.2	C			46670955	-1	no_errors	ENST00000239151	ensembl	human	known	70_37	silent	SNP	1.000	G	G	46670955	C	G	46670955	2	3	147	1	0	0	0	0	0	0	0	1	7324	813	29	1		1	HOXB5	17	46670955	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	48697	46670955	34524255	945	24199										
MYCBPAP	84073	genome.wustl.edu	37	chr17	48600348	48600348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctttgaaaccctagaaggcGagaaaacctcctcagaactg	8	12	1	4	rs376168122		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:48600348G>A	ENST00000323776.5	+	11	1597	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E442K	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTAGAAGGCGAGAAAACCTC	0.522																																																	0													104	102	102					17																	48600348		2203	4300	6503	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1435G>A	17.37:g.48600348G>A	ENSP00000323184:p.Glu479Lys			Missense_Mutation	SNP	NULL	p.E479K	ENST00000323776.5	37	c.1435	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792862	0.50102	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.49139	0.79;0.79	5.83	3.77	0.43336	.	0.053672	0.64402	D	0.000001	T	0.49115	0.1538	M	0.67953	2.075	0.40732	D	0.982753	P	0.51449	0.945	B	0.41691	0.364	T	0.59161	-0.7506	10	0.66056	D	0.02	-26.3012	16.3622	0.83271	0.0:0.2492:0.7508:0.0	.	442	Q8TBZ2	MYBPP_HUMAN	K	479;442	ENSP00000323184:E479K;ENSP00000397209:E442K	ENSP00000323184:E479K	E	+	1	0	MYCBPAP	45955347	0.999000	0.42202	0.826000	0.32828	0.004000	0.04260	2.745000	0.47459	0.739000	0.32628	0.655000	0.94253	GAG	MYCBPAP	-	NULL		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	G	NM_032133		48600348	1	no_errors	ENST00000323776	ensembl	human	known	70_37	missense	SNP	0.984	A	A	48600348	G	A	48600348	3	1	147	1	0	0	0	0	1	0	0	0	10042	1059	37	1	1477	1	MYCBPAP	17	48600348	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1929393	48600348	32594862	946	24200										
ABCC3	8714	genome.wustl.edu	37	chr17	48745156	48745156	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgggtccctgcctccaggGctctgggtgcccaggcatgg	16	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:48745156G>T	ENST00000285238.8	+	12	1715				ABCC3_ENST00000427699.1_Missense_Mutation_p.G558V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGCCTCCAGGGCTCTGGGTGC	0.647																																																	0													48	46	47					17																	48745156		2203	4300	6503	SO:0001627	intron_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1635+38G>T	17.37:g.48745156G>T			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	p.G558V	ENST00000285238.8	37	c.1673	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498080	0.04291	.	.	ENSG00000108846	ENST00000427699	D	0.90676	-2.71	2.98	0.414	0.16406	.	.	.	.	.	T	0.77322	0.4113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66073	-0.6014	9	0.87932	D	0	.	3.3886	0.07281	0.0:0.4484:0.3269:0.2247	.	558	O15438-5	.	V	558	ENSP00000395160:G558V	ENSP00000395160:G558V	G	+	2	0	ABCC3	46100155	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.407000	0.07178	0.115000	0.18071	-0.302000	0.09304	GGC	ABCC3	-	NULL		0.647	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	G	NM_020038		48745156	1	no_errors	ENST00000427699	ensembl	human	known	70_37	missense	SNP	0.003	T	T	48745156	G	T	48745156	1	4	147	0	1	0	0	0	0	0	0	0	54	1203	42	4		4	ABCC3	17	48745156	Intron	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	144808	48745156	32450054	947	24201										
ABCC3	8714	genome.wustl.edu	37	chr17	48768463	48768463	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttgactagggtcctggtcCtggacaaaggagtagtagct	13	7	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:48768463C>G	ENST00000285238.8	+	31	4566	c.4486C>G	c.(4486-4488)Ctg>Gtg	p.L1496V	RP11-294J22.6_ENST00000574246.1_RNA	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1496	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGTCCTGGTCCTGGACAAAGG	0.502																																																	0													107	96	100					17																	48768463		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4486C>G	17.37:g.48768463C>G	ENSP00000285238:p.Leu1496Val		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L1496V	ENST00000285238.8	37	c.4486	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573560	0.65765	.	.	ENSG00000108846	ENST00000285238	T	0.70516	-0.49	5.23	2.1	0.27182	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000008	T	0.79661	0.4484	M	0.67625	2.065	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.79259	-0.1877	10	0.87932	D	0	-12.6459	9.7862	0.40677	0.0:0.771:0.0:0.229	.	1496	O15438	MRP3_HUMAN	V	1496	ENSP00000285238:L1496V	ENSP00000285238:L1496V	L	+	1	2	ABCC3	46123462	0.981000	0.34729	1.000000	0.80357	0.973000	0.67179	1.175000	0.31944	0.582000	0.29556	0.561000	0.74099	CTG	ABCC3	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.502	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48768463	1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	0.999	G	G	48768463	C	G	48768463	3	3	147	1	0	0	0	0	1	0	0	0	54	680	24	4	4692	4	ABCC3	17	48768463	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	23307	48768463	32426747	948	24202										
RAD51C	5889	genome.wustl.edu	37	chr17	56772321	56772321	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatctaaagcagaagccttaGaaactctgcaaattatcaga	6	8	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:56772321G>A	ENST00000337432.4	+	2	246	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.E59K|TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000421782.2_Missense_Mutation_p.E59K|TEX14_ENST00000349033.5_5'Flank|TEX14_ENST00000240361.8_5'Flank	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	59	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGCCTTAGAAACTCTGCA	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																																								0													88	99	96					17																	56772321		2203	4300	6503	SO:0001583	missense	5889	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.175G>A	17.37:g.56772321G>A	ENSP00000336701:p.Glu59Lys		O43503|Q3B783	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.E59K	ENST00000337432.4	37	c.175	CCDS11611.1	17	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342329	0.61073	.	.	ENSG00000108384	ENST00000337432;ENST00000421782	T;T	0.40225	1.04;1.4	5.91	5.91	0.95273	.	0.046220	0.85682	D	0.000000	T	0.61286	0.2335	M	0.77103	2.36	0.80722	D	1	D;P;D	0.69078	0.997;0.879;0.972	D;P;P	0.66716	0.946;0.688;0.891	T	0.58487	-0.7628	10	0.02654	T	1	-21.2356	18.8649	0.92287	0.0:0.0:1.0:0.0	.	50;59;59	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	59	ENSP00000336701:E59K;ENSP00000391450:E59K	ENSP00000336701:E59K	E	+	1	0	RAD51C	54127320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.950000	0.87804	2.804000	0.96469	0.650000	0.86243	GAA	RAD51C	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD51C	HGNC	protein_coding	OTTHUMT00000280540.2	G	NM_058216		56772321	1	no_errors	ENST00000337432	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56772321	G	A	56772321	3	1	147	1	0	0	0	0	1	0	0	0	13018	943	33	1	181	1	RAD51C	17	56772321	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	8003858	56772321	24422889	949	24203										
C17orf71	55181	genome.wustl.edu	37	chr17	57288710	57288710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tttcgatgacagtgtgggcaGgaacccacagccttcccatt	10	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:57288710G>A	ENST00000543872.2	+	2	1562	c.1298G>A	c.(1297-1299)aGg>aAg	p.R433K	SMG8_ENST00000300917.5_Missense_Mutation_p.R433K|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.R433K			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	433					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.R433K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGTGTGGGCAGGAACCCACAG	0.468																																																	1	Substitution - Missense(1)	prostate(1)											73	69	70					17																	57288710		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1298G>A	17.37:g.57288710G>A	ENSP00000438748:p.Arg433Lys		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.R433K	ENST00000543872.2	37	c.1298	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991106	0.74703	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.46451	0.87;0.87	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.47716	1.5	0.58432	D	0.999999	D	0.57257	0.979	D	0.71414	0.973	T	0.57682	-0.7769	10	0.62326	D	0.03	-15.6404	19.6164	0.95636	0.0:0.0:1.0:0.0	.	433	Q8ND04	SMG8_HUMAN	K	433	ENSP00000300917:R433K;ENSP00000438748:R433K	ENSP00000300917:R433K	R	+	2	0	SMG8	54643492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.871000	0.98454	0.655000	0.94253	AGG	SMG8	-	pfam_Smg8/Smg9		0.468	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57288710	1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57288710	G	A	57288710	3	1	147	1	0	0	0	0	1	0	0	0	1882	1000	35	4	1300	4	C17orf71	17	57288710	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	516389	57288710	23906500	950	24204										
DCAF7	10238	genome.wustl.edu	37	chr17	61666384	61666384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatgaccaccaggctctcatCtgggacatccagcaaatgcc	9	14	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:61666384C>T	ENST00000310827.4	+	8	1096	c.879C>T	c.(877-879)atC>atT	p.I293I	DCAF7_ENST00000415273.2_Silent_p.I93I|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	293					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AGGCTCTCATCTGGGACATCC	0.542																																																	0													51	51	51					17																	61666384		2032	4183	6215	SO:0001819	synonymous_variant	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.879C>T	17.37:g.61666384C>T			B4E039|D3DU14|O15491|Q9DAE4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I293	ENST00000310827.4	37	c.879		17																																																																																			DCAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.542	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		C	NM_005828		61666384	1	no_errors	ENST00000310827	ensembl	human	known	70_37	silent	SNP	1.000	T	T	61666384	C	T	61666384	2	4	147	1	0	0	0	0	0	0	0	1	4280	903	32	1		1	DCAF7	17	61666384	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4377674	61666384	19528826	951	24205										
STRADA	92335	genome.wustl.edu	37	chr17	61790876	61790876	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	attcacagtcatcaggtcctCaaatcctttgcctaaaagaa	5	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:61790876C>G	ENST00000336174.6	-	6	350	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	STRADA_ENST00000447001.3_Missense_Mutation_p.E36Q|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000579340.1_Missense_Mutation_p.E22Q|STRADA_ENST00000582137.1_Missense_Mutation_p.E51Q|STRADA_ENST00000392950.4_Missense_Mutation_p.E43Q|STRADA_ENST00000245865.5_Missense_Mutation_p.E22Q|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.E22Q	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ATCAGGTCCTCAAATCCTTTG	0.388																																																	0													193	174	181					17																	61790876		2203	4300	6503	SO:0001583	missense	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.238G>C	17.37:g.61790876C>G	ENSP00000336655:p.Glu80Gln		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	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.E80Q	ENST00000336174.6	37	c.238	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993733	0.54041	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.73469	-0.75;-0.75;0.45;1.86	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139319	0.64402	D	0.000004	T	0.75968	0.3922	L	0.39898	1.24	0.58432	D	0.999999	P;P;P;B;P;P;P	0.51653	0.668;0.864;0.946;0.393;0.893;0.947;0.912	B;B;P;B;P;P;P	0.51550	0.23;0.218;0.673;0.073;0.521;0.624;0.673	T	0.76737	-0.2849	10	0.46703	T	0.11	.	18.463	0.90746	0.0:1.0:0.0:0.0	.	51;36;22;22;43;43;80	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	Q	80;22;36;43;42	ENSP00000336655:E80Q;ENSP00000365000:E22Q;ENSP00000398841:E36Q;ENSP00000376677:E43Q	ENSP00000245865:E42Q	E	-	1	0	STRADA	59144608	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.448000	0.80631	2.599000	0.87857	0.491000	0.48974	GAG	STRADA	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	C			61790876	-1	no_errors	ENST00000336174	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61790876	C	G	61790876	3	3	147	1	0	0	0	0	1	0	0	0	15354	835	29	1	1147	1	STRADA	17	61790876	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	124492	61790876	19404334	952	24206										
SCN4A	6329	genome.wustl.edu	37	chr17	62022990	62022990	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atggcgcctaggagggcgttCaccaccacctgggggccagg	16	13	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:62022990C>T	ENST00000435607.1	-	19	3526	c.3450G>A	c.(3448-3450)gtG>gtA	p.V1150V	SCN4A_ENST00000578147.1_Silent_p.V1150V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1150					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGGGCGTTCACCACCACCT	0.612																																																	0													100	106	104					17																	62022990		2198	4298	6496	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3450G>A	17.37:g.62022990C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.V1150	ENST00000435607.1	37	c.3450	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.612	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62022990	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62022990	C	T	62022990	2	4	147	1	0	0	0	0	0	0	0	1	13950	813	29	1		1	SCN4A	17	62022990	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	232114	62022990	19172220	953	24207										
CCDC45	90799	genome.wustl.edu	37	chr17	62510458	62510458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcttacagaacgcatcagtGaaacatctcatgagaaaagt	7	8	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:62510458G>A	ENST00000556440.2	+	4	859	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	CEP95_ENST00000581056.1_Missense_Mutation_p.E117K|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	117						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ACGCATCAGTGAAACATCTCA	0.323																																																	0													44	40	42					17																	62510458		1757	3931	5688	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.349G>A	17.37:g.62510458G>A	ENSP00000450461:p.Glu117Lys		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.E117K	ENST00000556440.2	37	c.349	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828809	0.50845	.	.	ENSG00000258890	ENST00000556440	T	0.34275	1.37	5.57	5.57	0.84162	.	0.151082	0.56097	D	0.000021	T	0.61274	0.2334	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59123	-0.7513	10	0.51188	T	0.08	-23.6021	19.8968	0.96969	0.0:0.0:1.0:0.0	.	117	Q96GE4	CEP95_HUMAN	K	117	ENSP00000450461:E117K	ENSP00000437744:E117K	E	+	1	0	CEP95	59940920	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	8.695000	0.91298	2.779000	0.95612	0.591000	0.81541	GAA	CEP95	-	NULL		0.323	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62510458	1	no_errors	ENST00000556440	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62510458	G	A	62510458	3	1	147	1	0	0	0	0	1	0	0	0	2821	1291	45	1	363	1	CCDC45	17	62510458	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	487468	62510458	18684752	954	24208										
RGS9	8787	genome.wustl.edu	37	chr17	63198172	63198172	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatggagatcagtccaaagtCaaggagaaagcagaggagat	13	5	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:63198172C>G	ENST00000262406.9	+	14	1105	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	RGS9_ENST00000449996.3_Silent_p.V343V|RGS9_ENST00000443584.3_Silent_p.V343V	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	346	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGTCCAAAGTCAAGGAGAAAG	0.547																																																	0													87	86	87					17																	63198172		1932	4141	6073	SO:0001819	synonymous_variant	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1038C>G	17.37:g.63198172C>G			A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.V346	ENST00000262406.9	37	c.1038	CCDS42373.1	17																																																																																			RGS9	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.547	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	C	NM_003835		63198172	1	no_errors	ENST00000262406	ensembl	human	known	70_37	silent	SNP	1.000	G	G	63198172	C	G	63198172	2	3	147	1	0	0	0	0	0	0	0	1	13343	813	29	1		1	RGS9	17	63198172	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	687714	63198172	17997038	955	24209										
DNAI2	64446	genome.wustl.edu	37	chr17	72278037	72278037	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcggaccgccaggccgagctGaacatcgacatcatgcccaa	10	15	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72278037G>C	ENST00000311014.6	+	2	148	c.81G>C	c.(79-81)ctG>ctC	p.L27L	DNAI2_ENST00000579490.1_Silent_p.L84L|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Silent_p.L27L|DNAI2_ENST00000446837.2_Silent_p.L27L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	27					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCCGAGCTGAACATCGACA	0.612									Kartagener syndrome																																								0													152	127	136					17																	72278037		2203	4300	6503	SO:0001819	synonymous_variant	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.81G>C	17.37:g.72278037G>C			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L27	ENST00000311014.6	37	c.81	CCDS11697.1	17																																																																																			DNAI2	-	NULL		0.612	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72278037	1	no_errors	ENST00000311014	ensembl	human	known	70_37	silent	SNP	1.000	C	C	72278037	G	C	72278037	2	2	147	1	0	0	0	0	0	0	0	1	4620	1277	45	1		1	DNAI2	17	72278037	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	9079865	72278037	8917173	956	24210										
DNAI2	64446	genome.wustl.edu	37	chr17	72278137	72278137	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgatcagcatgtcggaacacGaggtgggtccctgccccaag	13	13	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72278137G>T	ENST00000311014.6	+	2	248	c.181G>T	c.(181-183)Gag>Tag	p.E61*	DNAI2_ENST00000579490.1_Nonsense_Mutation_p.E118*|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.E61*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.E61*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	61					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCGGAACACGAGGTGGGTCC	0.652									Kartagener syndrome																																								0													77	69	72					17																	72278137		2203	4300	6503	SO:0001587	stop_gained	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.181G>T	17.37:g.72278137G>T	ENSP00000308312:p.Glu61*		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E61*	ENST00000311014.6	37	c.181	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.872496	0.97901	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	.	.	.	5.22	5.22	0.72569	.	0.226336	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-47.1684	19.0368	0.92982	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000308312:E61X	E	+	1	0	DNAI2	69789732	1.000000	0.71417	0.975000	0.42487	0.308000	0.27856	5.260000	0.65490	2.731000	0.93534	0.644000	0.83932	GAG	DNAI2	-	NULL		0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72278137	1	no_errors	ENST00000311014	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	72278137	G	T	72278137	4	4	147	1	0	0	0	0	0	1	0	0	4620	1059	37	3	183	3	DNAI2	17	72278137	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	100	72278137	8917073	957	24211										
DNAI2	64446	genome.wustl.edu	37	chr17	72283200	72283200	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggaggccatggaagtgatgGaggaggacccttcagctaaa	15	7	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72283200G>C	ENST00000311014.6	+	4	497	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	DNAI2_ENST00000579490.1_Missense_Mutation_p.E201Q|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Missense_Mutation_p.E144Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.E144Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	144					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGAAGTGATGGAGGAGGACCC	0.532									Kartagener syndrome																																								0													158	113	128					17																	72283200		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.430G>C	17.37:g.72283200G>C	ENSP00000308312:p.Glu144Gln		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E144Q	ENST00000311014.6	37	c.430	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	7.280	0.608991	0.14066	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.19532	2.14;2.14	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);	0.457273	0.26432	N	0.024411	T	0.24470	0.0593	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.05920	-1.0856	10	0.19147	T	0.46	-9.5734	18.6491	0.91423	0.0:0.0:1.0:0.0	.	144	Q9GZS0	DNAI2_HUMAN	Q	144	ENSP00000308312:E144Q;ENSP00000400252:E144Q	ENSP00000308312:E144Q	E	+	1	0	DNAI2	69794795	1.000000	0.71417	0.101000	0.21167	0.014000	0.08584	5.202000	0.65169	2.632000	0.89209	0.586000	0.80456	GAG	DNAI2	-	NULL		0.532	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72283200	1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.961	C	C	72283200	G	C	72283200	3	2	147	1	0	0	0	0	1	0	0	0	4620	1175	41	1	440	1	DNAI2	17	72283200	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5063	72283200	8912010	958	24212										
FADS6	283985	genome.wustl.edu	37	chr17	72889632	72889632	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcagcagcgcctcgcccccaCggtgcgcgctccgcgccggt	14	20	0	0	rs553427101	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72889632C>G	ENST00000310226.6	-	1	76	c.62G>C	c.(61-63)cGt>cCt	p.R21P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	27					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCGCCCCCACGGTGCGCGCT	0.716																																																	0													11	15	14					17																	72889632		2152	4253	6405	SO:0001583	missense	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.62G>C	17.37:g.72889632C>G	ENSP00000307821:p.Arg21Pro		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1	p.R21P	ENST00000310226.6	37	c.62	CCDS54163.1	17	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865262	0.32977	.	.	ENSG00000172782	ENST00000310226	.	.	.	3.61	-3.64	0.04515	.	0.460178	0.19317	U	0.117252	T	0.13030	0.0316	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08027	-1.0742	9	0.30078	T	0.28	-0.5834	1.4709	0.02415	0.1463:0.3362:0.3025:0.215	.	27	Q8N9I5	FADS6_HUMAN	P	21	.	ENSP00000307821:R21P	R	-	2	0	FADS6	70401227	0.605000	0.26941	0.001000	0.08648	0.353000	0.29299	0.000000	0.12993	-0.547000	0.06207	0.297000	0.19635	CGT	FADS6	-	NULL		0.716	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	C			72889632	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	missense	SNP	0.000	G	G	72889632	C	G	72889632	3	3	147	1	0	0	0	0	1	0	0	0	5383	536	19	2	1014	2	FADS6	17	72889632	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	606432	72889632	8305578	959	24213										
FADS6	283985	genome.wustl.edu	37	chr17	72889643	72889643	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcgcccccacggtgcgcgctCcgcgccggttccatgggctc	13	19	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72889643C>T	ENST00000310226.6	-	1	65	c.51G>A	c.(49-51)cgG>cgA	p.R17R		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	23	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GGTGCGCGCTCCGCGCCGGTT	0.716																																																	0													11	16	14					17																	72889643		2134	4244	6378	SO:0001819	synonymous_variant	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.51G>A	17.37:g.72889643C>T			Q17RQ7|Q6XYE1	Silent	SNP	pfam_Fatty_acid_desaturase-1	p.R17	ENST00000310226.6	37	c.51	CCDS54163.1	17																																																																																			FADS6	-	NULL		0.716	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	C			72889643	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	silent	SNP	0.000	T	T	72889643	C	T	72889643	2	4	147	1	0	0	0	0	0	0	0	1	5383	842	30	1		1	FADS6	17	72889643	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	11	72889643	8305567	960	24214										
NUP85	79902	genome.wustl.edu	37	chr17	73208116	73208116	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtgagtaaaaactaccgatCagtcatcagagcatgtatgg	10	7	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:73208116C>T	ENST00000245544.4	+	4	391	c.320C>T	c.(319-321)tCa>tTa	p.S107L	NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.S107L|NUP85_ENST00000541827.1_Missense_Mutation_p.S61L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	107					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AACTACCGATCAGTCATCAGA	0.458																																																	0													133	108	117					17																	73208116		2203	4300	6503	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.320C>T	17.37:g.73208116C>T	ENSP00000245544:p.Ser107Leu		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.S107L	ENST00000245544.4	37	c.320	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659549	0.88154	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.84326	2.69	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.57720	0.792;0.826	T	0.77064	-0.2726	9	0.38643	T	0.18	-8.5403	14.3518	0.66708	0.0:0.8517:0.1483:0.0	.	61;107	B4DMQ3;Q9BW27	.;NUP85_HUMAN	L	107;61;61	.	ENSP00000245544:S107L	S	+	2	0	NUP85	70719711	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	6.071000	0.71229	2.513000	0.84729	0.591000	0.81541	TCA	NUP85	-	pfam_Nucleoporin_Nup85		0.458	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	C	NM_024844		73208116	1	no_errors	ENST00000245544	ensembl	human	known	70_37	missense	SNP	0.992	T	T	73208116	C	T	73208116	3	4	147	1	0	0	0	0	1	0	0	0	10794	838	29	1	334	1	NUP85	17	73208116	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	318473	73208116	7987094	961	24215										
CASKIN2	57513	genome.wustl.edu	37	chr17	73501101	73501101	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctatgcggtctgtgcccctCtggctctcgtggatgtggcc	13	14	3	0	rs147378527		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:73501101C>G	ENST00000321617.3	-	11	1570	c.984G>C	c.(982-984)caG>caC	p.Q328H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.Q246H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGCCCCTCTGGCTCTCGT	0.706																																																	0													37	37	37					17																	73501101		2200	4294	6494	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.984G>C	17.37:g.73501101C>G	ENSP00000325355:p.Gln328His		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q328H	ENST00000321617.3	37	c.984	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076865	0.76415	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.14022	2.54;2.54	5.59	-1.15	0.09709	Src homology-3 domain (3);Variant SH3 (1);	0.199296	0.25686	N	0.028978	T	0.09379	0.0231	L	0.34521	1.04	0.80722	D	1	B	0.13145	0.007	B	0.20184	0.028	T	0.12889	-1.0530	10	0.56958	D	0.05	.	7.9284	0.29889	0.0:0.6498:0.1376:0.2127	.	328	Q8WXE0	CSKI2_HUMAN	H	328;246	ENSP00000325355:Q328H;ENSP00000406963:Q246H	ENSP00000325355:Q328H	Q	-	3	2	CASKIN2	71012696	0.945000	0.32115	0.996000	0.52242	0.974000	0.67602	1.310000	0.33551	-0.057000	0.13199	-0.459000	0.05422	CAG	CASKIN2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.706	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73501101	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.998	G	G	73501101	C	G	73501101	3	3	147	1	0	0	0	0	1	0	0	0	2672	912	32	1	2664	1	CASKIN2	17	73501101	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	292985	73501101	7694109	962	24216										
EVPL	2125	genome.wustl.edu	37	chr17	74019720	74019720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcagggcctggctctgctCactgttcagccggtcctgtg	13	14	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74019720C>T	ENST00000301607.3	-	3	467	c.214G>A	c.(214-216)Gag>Aag	p.E72K	EVPL_ENST00000586740.1_Missense_Mutation_p.E72K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	72	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGCTCTGCTCACTGTTCAGC	0.672																																																	0													15	18	17					17																	74019720		2190	4294	6484	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.214G>A	17.37:g.74019720C>T	ENSP00000301607:p.Glu72Lys		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E72K	ENST00000301607.3	37	c.214	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	7.039	0.562249	0.13498	.	.	ENSG00000167880	ENST00000301607	T	0.17528	2.27	4.66	2.52	0.30459	.	0.491826	0.22058	N	0.065217	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B	0.27229	0.02;0.172	B;B	0.22386	0.004;0.039	T	0.38178	-0.9673	10	0.06757	T	0.87	-10.201	12.7953	0.57556	0.0:0.4653:0.5347:0.0	.	72;72	B7ZLH8;Q92817	.;EVPL_HUMAN	K	72	ENSP00000301607:E72K	ENSP00000301607:E72K	E	-	1	0	EVPL	71531315	0.818000	0.29161	0.357000	0.25798	0.989000	0.77384	1.557000	0.36299	0.421000	0.25980	0.561000	0.74099	GAG	EVPL	-	NULL		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	C	NM_001988		74019720	-1	no_errors	ENST00000301607	ensembl	human	known	70_37	missense	SNP	0.004	T	T	74019720	C	T	74019720	3	4	147	1	0	0	0	0	1	0	0	0	5304	835	29	1	5967	1	EVPL	17	74019720	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	518619	74019720	7175490	963	24217										
GALR2	8811	genome.wustl.edu	37	chr17	74073113	74073113	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggatgccccaccacgcgctCatcctctgcgtgtggttcgg	12	15	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74073113C>T	ENST00000329003.3	+	2	855	c.765C>T	c.(763-765)ctC>ctT	p.L255L	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	255					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACCACGCGCTCATCCTCTGCG	0.672																																																	0													38	38	38					17																	74073113		2203	4300	6503	SO:0001819	synonymous_variant	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.765C>T	17.37:g.74073113C>T			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.L255	ENST00000329003.3	37	c.765	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.672	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	C			74073113	1	no_errors	ENST00000329003	ensembl	human	known	70_37	silent	SNP	0.998	T	T	74073113	C	T	74073113	2	4	147	1	0	0	0	0	0	0	0	1	6247	813	29	1		1	GALR2	17	74073113	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	53393	74073113	7122097	964	24218										
GALR2	8811	genome.wustl.edu	37	chr17	74073178	74073178	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttatgcgcttcgcatcctctCgcacctggtctcctacgcca	7	17	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74073178C>G	ENST00000329003.3	+	2	920	c.830C>G	c.(829-831)tCg>tGg	p.S277W	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGCATCCTCTCGCACCTGGTC	0.637																																																	0													42	37	39					17																	74073178		2203	4300	6503	SO:0001583	missense	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.830C>G	17.37:g.74073178C>G	ENSP00000329684:p.Ser277Trp		A5JUU4|Q32MN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.S277W	ENST00000329003.3	37	c.830	CCDS11739.1	17	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840929	0.71488	.	.	ENSG00000182687	ENST00000329003	T	0.72835	-0.69	4.62	-0.0722	0.13740	GPCR, rhodopsin-like superfamily (1);	0.176067	0.38326	N	0.001725	D	0.83885	0.5351	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78437	-0.2204	10	0.51188	T	0.08	.	4.6437	0.12561	0.274:0.5178:0.1327:0.0756	.	277	O43603	GALR2_HUMAN	W	277	ENSP00000329684:S277W	ENSP00000329684:S277W	S	+	2	0	GALR2	71584773	0.998000	0.40836	0.796000	0.32109	0.971000	0.66376	3.828000	0.55753	-0.240000	0.09696	0.462000	0.41574	TCG	GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt		0.637	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	C			74073178	1	no_errors	ENST00000329003	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74073178	C	G	74073178	3	3	147	1	0	0	0	0	1	0	0	0	6247	893	31	1	836	1	GALR2	17	74073178	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	65	74073178	7122032	965	24219										
FOXJ1	2302	genome.wustl.edu	37	chr17	74133686	74133686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccacgtccacgtgtgaggcGgggctcagaggcgggctcag	17	12	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74133686G>A	ENST00000322957.6	-	3	1368	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	338					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGTGTGAGGCGGGGCTCAGAG	0.682																																																	0													21	22	21					17																	74133686		2198	4297	6495	SO:0001819	synonymous_variant	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.1014C>T	17.37:g.74133686G>A			O00630	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P338	ENST00000322957.6	37	c.1014	CCDS32739.1	17																																																																																			FOXJ1	-	NULL		0.682	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	G	NM_001454		74133686	-1	no_errors	ENST00000322957	ensembl	human	known	70_37	silent	SNP	0.015	A	A	74133686	G	A	74133686	2	1	147	1	0	0	0	0	0	0	0	1	6029	1103	39	2		2	FOXJ1	17	74133686	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	60508	74133686	7061524	966	24220										
QRICH2	84074	genome.wustl.edu	37	chr17	74276491	74276491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccgtggtggcatcaaactgGacacggctcactttggtggc	13	11	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74276491G>A	ENST00000262765.5	-	11	4184	c.4005C>T	c.(4003-4005)gtC>gtT	p.V1335V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1335										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CATCAAACTGGACACGGCTCA	0.607																																																	0													127	110	116					17																	74276491		2203	4300	6503	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4005C>T	17.37:g.74276491G>A			A2RRE1|Q96LM3	Silent	SNP	NULL	p.V1335	ENST00000262765.5	37	c.4005	CCDS32741.1	17																																																																																			QRICH2	-	NULL		0.607	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74276491	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	silent	SNP	0.996	A	A	74276491	G	A	74276491	2	1	147	1	0	0	0	0	0	0	0	1	12910	1161	41	1		1	QRICH2	17	74276491	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	142805	74276491	6918719	967	24221										
JMJD6	23210	genome.wustl.edu	37	chr17	74721712	74721712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcgagtgctctccatgtactCgatgtagtatttcatcttca	7	10	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74721712C>T	ENST00000397625.4	-	2	469	c.355G>A	c.(355-357)Gag>Aag	p.E119K	JMJD6_ENST00000445478.2_Missense_Mutation_p.E119K|METTL23_ENST00000590964.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.E119K|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	119					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCATGTACTCGATGTAGTAT	0.433																																																	0													190	183	186					17																	74721712		1971	4167	6138	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.355G>A	17.37:g.74721712C>T	ENSP00000380750:p.Glu119Lys		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E119K	ENST00000397625.4	37	c.355	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794687	0.70452	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.72051	-0.62;-0.62	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.54965	1.715	0.80722	D	1	B;B;B	0.29188	0.072;0.112;0.236	B;B;B	0.17433	0.012;0.011;0.018	T	0.63932	-0.6525	10	0.37606	T	0.19	-1.2839	19.7472	0.96257	0.0:1.0:0.0:0.0	.	119;119;119	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	K	119	ENSP00000394085:E119K;ENSP00000380750:E119K	ENSP00000302916:E119K	E	-	1	0	JMJD6	72233307	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.806000	0.86020	2.653000	0.90120	0.561000	0.74099	GAG	JMJD6	-	NULL		0.433	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	C	NM_015167		74721712	-1	no_errors	ENST00000445478	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74721712	C	T	74721712	3	4	147	1	0	0	0	0	1	0	0	0	7973	893	31	1	917	1	JMJD6	17	74721712	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	445221	74721712	6473498	968	24222										
JMJD6	23210	genome.wustl.edu	37	chr17	74722527	74722527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccgcgcactccgcttggcctCgcggatgcgcttcttgctct	11	17	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74722527C>T	ENST00000397625.4	-	1	145	c.31G>A	c.(31-33)Gag>Aag	p.E11K	JMJD6_ENST00000445478.2_Missense_Mutation_p.E11K|METTL23_ENST00000590964.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.E11K|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	11					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTGGCCTCGCGGATGCGC	0.662																																																	0													31	37	35					17																	74722527		2034	4179	6213	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.31G>A	17.37:g.74722527C>T	ENSP00000380750:p.Glu11Lys		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E11K	ENST00000397625.4	37	c.31	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581168	0.46006	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	4.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.49256	1.55	0.80722	D	1	B;B;P	0.34780	0.151;0.184;0.468	B;B;B	0.21917	0.01;0.002;0.037	T	0.48352	-0.9043	9	0.42905	T	0.14	-1.0089	12.7816	0.57480	0.0:0.9205:0.0:0.0795	.	11;11;11	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	K	11	.	ENSP00000302916:E11K	E	-	1	0	JMJD6	72234122	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.149000	0.77396	1.199000	0.43173	-0.339000	0.08088	GAG	JMJD6	-	NULL		0.662	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	C	NM_015167		74722527	-1	no_errors	ENST00000445478	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74722527	C	T	74722527	3	4	147	1	0	0	0	0	1	0	0	0	7973	893	31	1	1245	1	JMJD6	17	74722527	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	815	74722527	6472683	969	24223										
SFRS2	6427	genome.wustl.edu	37	chr17	74733072	74733072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcgtgaaagcgaacgaaggcGaagccgcgggactccttggt	15	10	0	1	rs376379121		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74733072G>A	ENST00000392485.2	-	1	343	c.171C>T	c.(169-171)ttC>ttT	p.F57F	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000508921.3_Silent_p.F57F|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000359995.5_Silent_p.F57F|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MIR636_ENST00000384825.1_RNA	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GAACGAAGGCGAAGCCGCGGG	0.682			Mis		"MDS, CLL"																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0								G	,,	0,4402		0,0,2201	27	32	30		171,,171	2.8	1	17		30	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,utr-5,coding-synonymous	SRSF2,MFSD11	NM_001195427.1,NM_001242534.1,NM_003016.4	,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,	57/222,,57/222	74733072	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.171C>T	17.37:g.74733072G>A			B3KWD5|B4DN89|H0YG49	Silent	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.F57	ENST00000392485.2	37	c.171	CCDS11749.1	17																																																																																			SRSF2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.682	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	G	NM_003016		74733072	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74733072	G	A	74733072	2	1	147	1	0	0	0	0	0	0	0	1	14205	1049	37	1		1	SFRS2	17	74733072	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	10545	74733072	6462138	970	24224										
MFSD11	79157	genome.wustl.edu	37	chr17	74735031	74735031	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccacacagcaaactgtcatCaggagcttaaataggacaga	8	10	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74735031C>T	ENST00000588460.1	+	2	2150	c.108C>T	c.(106-108)atC>atT	p.I36I	MFSD11_ENST00000586622.1_Silent_p.I36I|MFSD11_ENST00000590514.1_Silent_p.I36I|SRSF2_ENST00000392485.2_5'Flank|SRSF2_ENST00000508921.3_5'Flank|MFSD11_ENST00000593181.1_Silent_p.I36I|MFSD11_ENST00000336509.4_Silent_p.I36I|SRSF2_ENST00000359995.5_5'Flank|MFSD11_ENST00000355954.3_Silent_p.I36I|MIR636_ENST00000384825.1_RNA	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	36						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						AAACTGTCATCAGGAGCTTAA	0.403																																																	0													117	104	108					17																	74735031		2203	4300	6503	SO:0001819	synonymous_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.108C>T	17.37:g.74735031C>T			O43442|Q9NXI5	Silent	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I36	ENST00000588460.1	37	c.108	CCDS11750.1	17																																																																																			MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.403	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	C	NM_024311		74735031	1	no_errors	ENST00000336509	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74735031	C	T	74735031	2	4	147	1	0	0	0	0	0	0	0	1	9552	816	29	1		1	MFSD11	17	74735031	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1959	74735031	6460179	971	24225										
MFSD11	79157	genome.wustl.edu	37	chr17	74740547	74740547	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accaggacatggaagtcaacGagtaagatgttggaaacatt	11	6	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74740547G>A	ENST00000588460.1	+	7	2682	c.640G>A	c.(640-642)Gag>Aag	p.E214K	MFSD11_ENST00000586622.1_Splice_Site_p.E214K|MFSD11_ENST00000590514.1_Splice_Site_p.E214K|MFSD11_ENST00000593181.1_Splice_Site_p.E162K|MFSD11_ENST00000336509.4_Splice_Site_p.E214K|MFSD11_ENST00000355954.3_Splice_Site_p.E162K	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	214						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GGAAGTCAACGAGTAAGATGT	0.388																																																	0													87	81	83					17																	74740547		2203	4300	6503	SO:0001630	splice_region_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.641+1G>A	17.37:g.74740547G>A			O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E214K	ENST00000588460.1	37	c.640	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932446	0.34096	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.08896	3.39;3.04	5.41	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);	0.955933	0.08846	N	0.885109	T	0.07143	0.0181	L	0.49126	1.545	0.24566	N	0.993943	B;B	0.15719	0.014;0.01	B;B	0.09377	0.003;0.004	T	0.50825	-0.8782	10	0.07990	T	0.79	-6.4673	3.3447	0.07131	0.2013:0.0:0.5559:0.2428	.	162;214	O43934-2;O43934	.;MFS11_HUMAN	K	214;162	ENSP00000337240:E214K;ENSP00000348225:E162K	ENSP00000337240:E214K	E	+	1	0	MFSD11	72252142	0.950000	0.32346	0.931000	0.37212	0.942000	0.58702	2.748000	0.47483	2.709000	0.92574	0.655000	0.94253	GAG	MFSD11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.388	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	G	NM_024311	Missense_Mutation	74740547	1	no_errors	ENST00000336509	ensembl	human	known	70_37	missense	SNP	0.544	A	A	74740547	G	A	74740547	5	1	147	1	0	0	0	0	0	0	1	0	9552	1072	37	1	666	1	MFSD11	17	74740547	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	5516	74740547	6454663	972	24226										
TMC6	11322	genome.wustl.edu	37	chr17	76113951	76113951	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagcagagcagcgtgaggaaGacggtgctcatgtgtgaggc	17	7	1	4	rs569444280		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:76113951G>A	ENST00000590602.1	-	16	2112	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.V230V|TMC6_ENST00000591436.1_Silent_p.V230V|TMC6_ENST00000322914.3_Silent_p.V651V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Silent_p.V651V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	651					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCGTGAGGAAGACGGTGCTCA	0.682													G|||	1	0.000199681	0	0.0014	5008	,	,		16506	0		0	False		,,,				2504	0																0													36	31	33					17																	76113951		2200	4297	6497	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1953C>T	17.37:g.76113951G>A			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.V651	ENST00000590602.1	37	c.1953	CCDS32748.1	17																																																																																			TMC6	-	NULL		0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76113951	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76113951	G	A	76113951	2	1	147	1	0	0	0	0	0	0	0	1	16019	929	33	1		1	TMC6	17	76113951	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1373404	76113951	5081259	973	24227										
DNAH17	8632	genome.wustl.edu	37	chr17	76482068	76482068	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggacatcgggatccagctCaaaggagggcactttatctg	13	9	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:76482068C>G	ENST00000585328.1	-	46	7358	c.7234G>C	c.(7234-7236)Gag>Cag	p.E2412Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E2403Q|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2403	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			GGATCCAGCTCAAAGGAGGGC	0.522																																																	0													81	78	79					17																	76482068		1955	4138	6093	SO:0001583	missense	8632			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.7234G>C	17.37:g.76482068C>G	ENSP00000465516:p.Glu2412Gln		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E2403Q	ENST00000585328.1	37	c.7207		17	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586049	0.28268	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.49139	0.79	4.42	3.42	0.39159	.	.	.	.	.	T	0.52419	0.1733	L	0.59967	1.855	0.34007	D	0.650964	.	.	.	.	.	.	T	0.60954	-0.7160	7	0.30854	T	0.27	.	11.3166	0.49396	0.0:0.8491:0.0:0.1509	.	.	.	.	Q	2412;2403	ENSP00000374490:E2403Q	ENSP00000300671:E2412Q	E	-	1	0	DNAH17	73993663	0.974000	0.33945	0.987000	0.45799	0.121000	0.20230	2.268000	0.43338	2.302000	0.77476	0.561000	0.74099	GAG	DNAH17	-	NULL		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76482068	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76482068	C	G	76482068	3	3	147	1	0	0	0	0	1	0	0	0	4611	835	29	1	6283	1	DNAH17	17	76482068	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	368117	76482068	4713142	974	24228										
RNF213	57674	genome.wustl.edu	37	chr17	78318879	78318879	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gacacactgaggggcttcaaGaagttcgtggtgaccttcat	12	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78318879G>C	ENST00000582970.1	+	29	6887	c.6744G>C	c.(6742-6744)aaG>aaC	p.K2248N	RNF213_ENST00000508628.2_Missense_Mutation_p.K2297N|RNF213_ENST00000336301.6_Missense_Mutation_p.K321N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2248					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCTTCAAGAAGTTCGTGG	0.498																																																	0													141	130	134					17																	78318879		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6744G>C	17.37:g.78318879G>C	ENSP00000464087:p.Lys2248Asn		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.K2248N	ENST00000582970.1	37	c.6744	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342565	0.24339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.32753	1.44	5.82	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.76328	2.33	0.30488	N	0.771685	D	0.89917	1.0	D	0.78314	0.991	T	0.60429	-0.7265	10	0.87932	D	0	.	11.208	0.48782	0.1921:0.0:0.8079:0.0	.	321	Q63HN8	RN213_HUMAN	N	2248;2297;321	ENSP00000338218:K321N	ENSP00000338218:K321N	K	+	3	2	RNF213	75933474	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	2.956000	0.49129	1.463000	0.47967	0.563000	0.77884	AAG	RNF213	-	NULL		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78318879	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78318879	G	C	78318879	3	2	147	1	0	0	0	0	1	0	0	0	13507	933	33	1	7173	1	RNF213	17	78318879	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1836811	78318879	2876331	975	24229										
RNF213	57674	genome.wustl.edu	37	chr17	78319163	78319163	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gactgggaaggtcatcaagaGagacgtcatgaccagggacc	14	9	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78319163G>C	ENST00000582970.1	+	29	7171	c.7028G>C	c.(7027-7029)aGa>aCa	p.R2343T	RNF213_ENST00000508628.2_Missense_Mutation_p.R2392T|RNF213_ENST00000336301.6_Missense_Mutation_p.R416T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2343					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCATCAAGAGAGACGTCATG	0.532																																																	0													109	101	104					17																	78319163		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7028G>C	17.37:g.78319163G>C	ENSP00000464087:p.Arg2343Thr		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.R2343T	ENST00000582970.1	37	c.7028	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	3.907	-0.020951	0.07634	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22945	1.93	5.84	-2.89	0.05665	.	0.380141	0.26293	N	0.025220	T	0.16599	0.0399	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.20184	0.028	T	0.28267	-1.0049	10	0.59425	D	0.04	.	14.8597	0.70372	0.4523:0.0:0.5477:0.0	.	416	Q63HN8	RN213_HUMAN	T	2343;2392;416	ENSP00000338218:R416T	ENSP00000338218:R416T	R	+	2	0	RNF213	75933758	0.000000	0.05858	0.023000	0.16930	0.068000	0.16541	-0.306000	0.08178	-0.319000	0.08652	-0.136000	0.14681	AGA	RNF213	-	NULL		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78319163	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.003	C	C	78319163	G	C	78319163	3	2	147	1	0	0	0	0	1	0	0	0	13507	942	33	1	7457	1	RNF213	17	78319163	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	284	78319163	2876047	976	24230										
RNF213	57674	genome.wustl.edu	37	chr17	78320023	78320023	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agggtttcatgaggaaaacaGaagatgagtgcagctttgtc	13	5	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78320023G>A	ENST00000582970.1	+	29	8031	c.7888G>A	c.(7888-7890)Gaa>Aaa	p.E2630K	RNF213_ENST00000508628.2_Missense_Mutation_p.E2679K|RNF213_ENST00000336301.6_Missense_Mutation_p.E703K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2630					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGGAAAACAGAAGATGAGTG	0.532																																																	0													97	99	99					17																	78320023		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7888G>A	17.37:g.78320023G>A	ENSP00000464087:p.Glu2630Lys		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2630K	ENST00000582970.1	37	c.7888	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	2.370	-0.344500	0.05208	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.45276	0.9	5.77	0.281	0.15687	.	1.211680	0.05795	N	0.611112	T	0.19927	0.0479	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.05833	T	0.94	.	6.3504	0.21373	0.2553:0.3609:0.3837:0.0	.	703	Q63HN8	RN213_HUMAN	K	2630;2679;703	ENSP00000338218:E703K	ENSP00000338218:E703K	E	+	1	0	RNF213	75934618	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.297000	0.19101	-0.121000	0.11787	-0.844000	0.03045	GAA	RNF213	-	NULL		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78320023	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.000	A	A	78320023	G	A	78320023	3	1	147	1	0	0	0	0	1	0	0	0	13507	943	33	1	8317	1	RNF213	17	78320023	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	860	78320023	2875187	977	24231										
RPTOR	57521	genome.wustl.edu	37	chr17	78858868	78858868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcaactctgcagagaggacgGaccactccaccaccatcgac	9	16	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78858868G>A	ENST00000306801.3	+	17	2265	c.1903G>A	c.(1903-1905)Gac>Aac	p.D635N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	635					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAGAGGACGGACCACTCCAC	0.682																																																	0													61	45	50					17																	78858868		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1903G>A	17.37:g.78858868G>A	ENSP00000307272:p.Asp635Asn		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.D635N	ENST00000306801.3	37	c.1903	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.639703	0.96693	.	.	ENSG00000141564	ENST00000306801	T	0.35973	1.28	4.78	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.63843	1.955	0.80722	D	1	D	0.54207	0.965	P	0.46758	0.526	T	0.33879	-0.9851	10	0.24483	T	0.36	.	17.8063	0.88602	0.0:0.0:1.0:0.0	.	635	Q8N122	RPTOR_HUMAN	N	635	ENSP00000307272:D635N	ENSP00000307272:D635N	D	+	1	0	RPTOR	76473463	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.259000	0.95561	2.209000	0.71365	0.462000	0.41574	GAC	RPTOR	-	superfamily_ARM-type_fold		0.682	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	G	NM_020761		78858868	1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78858868	G	A	78858868	3	1	147	1	0	0	0	0	1	0	0	0	13695	1174	41	1	1969	1	RPTOR	17	78858868	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	538845	78858868	2336342	978	24232										
CHMP6	79643	genome.wustl.edu	37	chr17	78972194	78972194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agagctgccagaggttccctCcgagccccttcctgagaaga	11	14	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78972194C>T	ENST00000325167.5	+	7	602	c.524C>T	c.(523-525)tCc>tTc	p.S175F	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	175	Interaction with VPS4A.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGTTCCCTCCGAGCCCCTT	0.522																																																	0													108	109	109					17																	78972194		2203	4300	6503	SO:0001583	missense	79643			BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"Charged multivesicular body proteins"	25675	protein-coding gene	gene with protein product		610901	"chromatin modifying protein 6"			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.524C>T	17.37:g.78972194C>T	ENSP00000317468:p.Ser175Phe		A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	pfam_Snf7	p.S175F	ENST00000325167.5	37	c.524	CCDS11774.1	17	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201773	0.58234	.	.	ENSG00000176108	ENST00000325167	T	0.75367	-0.93	4.57	3.59	0.41128	.	0.493155	0.19597	N	0.110474	T	0.80166	0.4573	M	0.83012	2.62	0.26874	N	0.967694	P	0.37612	0.602	P	0.45377	0.478	T	0.75750	-0.3208	10	0.72032	D	0.01	-24.4707	11.9604	0.53005	0.0:0.9149:0.0:0.0851	.	175	Q96FZ7	CHMP6_HUMAN	F	175	ENSP00000317468:S175F	ENSP00000317468:S175F	S	+	2	0	CHMP6	76586789	0.035000	0.19736	0.089000	0.20774	0.944000	0.59088	3.289000	0.51747	2.070000	0.61991	0.491000	0.48974	TCC	CHMP6	-	pfam_Snf7		0.522	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP6	HGNC	protein_coding	OTTHUMT00000438215.1	C	NM_024591		78972194	1	no_errors	ENST00000325167	ensembl	human	known	70_37	missense	SNP	0.113	T	T	78972194	C	T	78972194	3	4	147	1	0	0	0	0	1	0	0	0	3365	855	30	1	550	1	CHMP6	17	78972194	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	113326	78972194	2223016	979	24233										
C17orf70	80233	genome.wustl.edu	37	chr17	79512804	79512804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaggtgaacgttggcgccatCaggggccactccctggatgg	16	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79512804C>T	ENST00000327787.8	-	6	2324	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	C17orf70_ENST00000425898.2_Missense_Mutation_p.D409N|C17orf70_ENST00000537152.1_Missense_Mutation_p.D609N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	760					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TTGGCGCCATCAGGGGCCACT	0.652																																																	0													59	40	46					17																	79512804		2201	4299	6500	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2278G>A	17.37:g.79512804C>T	ENSP00000333283:p.Asp760Asn		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.D760N	ENST00000327787.8	37	c.2278	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927689	0.34002	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.38401	1.14;1.14;1.14	4.84	3.87	0.44632	.	0.322771	0.28600	N	0.014780	T	0.40423	0.1116	L	0.48642	1.525	0.28921	N	0.892148	D;P	0.55385	0.971;0.95	P;P	0.52514	0.701;0.648	T	0.25710	-1.0124	10	0.38643	T	0.18	.	10.2708	0.43481	0.0:0.9058:0.0:0.0942	.	760;409	Q0VG06;E7EVV8	FP100_HUMAN;.	N	760;409;133;609	ENSP00000333283:D760N;ENSP00000399674:D409N;ENSP00000440151:D609N	ENSP00000333283:D760N	D	-	1	0	C17orf70	77123257	0.045000	0.20229	0.016000	0.15963	0.059000	0.15707	2.186000	0.42593	1.034000	0.39945	0.561000	0.74099	GAT	C17orf70	-	NULL		0.652	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	C	NM_025161		79512804	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.587	T	T	79512804	C	T	79512804	3	4	147	1	0	0	0	0	1	0	0	0	1881	826	29	1	383	1	C17orf70	17	79512804	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	540610	79512804	1682406	980	24234										
ARL16	339231	genome.wustl.edu	37	chr17	79648864	79648864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcaatgatgtctggaagcctGattaatgacttcatctcctc	8	10	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79648864G>C	ENST00000397498.4	-	5	566	c.468C>G	c.(466-468)atC>atG	p.I156M	ARL16_ENST00000570561.1_Missense_Mutation_p.I70M|ARL16_ENST00000573392.1_Missense_Mutation_p.I52M|ARL16_ENST00000574938.1_Missense_Mutation_p.I52M|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000576135.1_Missense_Mutation_p.I70M	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	156					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGGAAGCCTGATTAATGACT	0.577																																																	0													39	41	40					17																	79648864		2053	4198	6251	SO:0001583	missense	339231				CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.468C>G	17.37:g.79648864G>C	ENSP00000380635:p.Ile156Met			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	p.I156M	ENST00000397498.4	37	c.468	CCDS45813.1	17	.	.	.	.	.	.	.	.	.	.	G	8.994	0.978524	0.18812	.	.	ENSG00000214087	ENST00000397498	T	0.63580	-0.05	5.1	-0.975	0.10289	.	0.215544	0.37955	N	0.001863	T	0.38639	0.1048	N	0.11131	0.1	0.20975	N	0.999812	B;B	0.23249	0.082;0.007	B;B	0.26864	0.074;0.023	T	0.31613	-0.9937	10	0.66056	D	0.02	.	8.9691	0.35894	0.1455:0.5236:0.3309:0.0	.	156;132	Q0P5N6;B4E3H0	ARL16_HUMAN;.	M	156	ENSP00000380635:I156M	ENSP00000380635:I156M	I	-	3	3	ARL16	77259269	1.000000	0.71417	0.115000	0.21578	0.750000	0.42670	0.858000	0.27845	-0.384000	0.07845	-0.176000	0.13171	ATC	ARL16	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1		0.577	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ARL16	HGNC	protein_coding	OTTHUMT00000440514.1	G	XM_290777		79648864	-1	no_errors	ENST00000397498	ensembl	human	known	70_37	missense	SNP	0.725	C	C	79648864	G	C	79648864	3	2	147	1	0	0	0	0	1	0	0	0	932	1280	45	1	129	1	ARL16	17	79648864	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	136060	79648864	1546346	981	24235										
PCYT2	5833	genome.wustl.edu	37	chr17	79863284	79863284	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggtcggagccatccctgtCagggataatttctgtcttgc	12	10	3	0	rs1803411		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79863284C>T	ENST00000538936.2	-	11	1051	c.943G>A	c.(943-945)Gac>Aac	p.D315N	PCYT2_ENST00000538721.2_Missense_Mutation_p.D333N|PCYT2_ENST00000571105.1_Intron|PCYT2_ENST00000331285.3_Missense_Mutation_p.D237N|PCYT2_ENST00000570388.1_Missense_Mutation_p.D237N|PCYT2_ENST00000570391.1_Missense_Mutation_p.D283N	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	315					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CCATCCCTGTCAGGGATAATT	0.627																																																	0													53	40	44					17																	79863284		2184	4276	6460	SO:0001583	missense	5833			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.943G>A	17.37:g.79863284C>T	ENSP00000439245:p.Asp315Asn		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-like	p.D333N	ENST00000538936.2	37	c.997	CCDS11791.1	17	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486598	0.44249	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.89	4.89	0.63831	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.152710	0.56097	D	0.000027	T	0.65575	0.2704	M	0.64404	1.975	0.53005	D	0.999965	B;B;B;B	0.17268	0.01;0.021;0.005;0.005	B;B;B;B	0.20767	0.024;0.031;0.024;0.008	T	0.61451	-0.7060	9	0.25751	T	0.34	-25.9617	18.2956	0.90145	0.0:1.0:0.0:0.0	.	283;333;237;315	B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;PCY2_HUMAN	N	333;315;237	.	ENSP00000331719:D237N	D	-	1	0	PCYT2	77456576	1.000000	0.71417	0.994000	0.49952	0.054000	0.15201	5.180000	0.65048	2.550000	0.86006	0.555000	0.69702	GAC	PCYT2	-	NULL		0.627	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT2	HGNC	protein_coding	OTTHUMT00000439939.1	C	NM_002861		79863284	-1	no_errors	ENST00000538721	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79863284	C	T	79863284	3	4	147	1	0	0	0	0	1	0	0	0	11636	826	29	1	238	1	PCYT2	17	79863284	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	214420	79863284	1331926	982	24236										
FASN	2194	genome.wustl.edu	37	chr17	80040815	80040815	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggatcccggagcgagaagtCaacacgagcttctgcacccc	11	15	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:80040815C>T	ENST00000306749.2	-	33	5960	c.5742G>A	c.(5740-5742)ttG>ttA	p.L1914L	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1914	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCGAGAAGTCAACACGAGCT	0.667																																					Colon(59;314 1043 11189 28578 32273)												0													75	63	67					17																	80040815		2199	4297	6496	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5742G>A	17.37:g.80040815C>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L1914	ENST00000306749.2	37	c.5742	CCDS11801.1	17																																																																																			FASN	-	pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR		0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80040815	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	80040815	C	T	80040815	2	4	147	1	0	0	0	0	0	0	0	1	5701	825	29	1		1	FASN	17	80040815	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	177531	80040815	1154395	983	24237										
HEXDC	284004	genome.wustl.edu	37	chr17	80400180	80400180	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctgcagcggctgcaagctCtgctgcaggacctcagcgag	14	14	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:80400180C>G	ENST00000327949.9	+	12	1392	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	HEXDC_ENST00000577944.1_Missense_Mutation_p.S463C|HEXDC_ENST00000337014.6_Silent_p.L490L			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	461					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGCAAGCTCTGCTGCAGGA	0.682																																																	0													19	23	21					17																	80400180		1972	4150	6122	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1381C>G	17.37:g.80400180C>G	ENSP00000332634:p.Leu461Val		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.L461V	ENST00000327949.9	37	c.1381		17	.	.	.	.	.	.	.	.	.	.	C	5.581	0.292006	0.10567	.	.	ENSG00000169660	ENST00000327949	T	0.33865	1.39	5.25	4.26	0.50523	.	1.159490	0.06066	N	0.659234	T	0.28699	0.0711	.	.	.	0.22199	N	0.999295	B	0.26902	0.163	B	0.23018	0.043	T	0.22556	-1.0213	9	0.45353	T	0.12	0.7962	7.4048	0.26985	0.0:0.6303:0.2752:0.0944	.	461	Q8WVB3	HEXDC_HUMAN	V	461	ENSP00000332634:L461V	ENSP00000332634:L461V	L	+	1	2	HEXDC	77993469	0.089000	0.21612	0.399000	0.26333	0.304000	0.27724	0.520000	0.22878	1.148000	0.42385	0.561000	0.74099	CTG	HEXDC	-	NULL		0.682	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	C	NM_173620		80400180	1	no_errors	ENST00000327949	ensembl	human	known	70_37	missense	SNP	0.451	G	G	80400180	C	G	80400180	3	3	147	1	0	0	0	0	1	0	0	0	7095	900	32	1	1512	1	HEXDC	17	80400180	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	359365	80400180	795030	984	24238										
MYL12A	10627	genome.wustl.edu	37	chr18	3255744	3255744	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttgttctttattctccagGcaccatacaggaagattact	6	11	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:3255744G>A	ENST00000217652.3	+	4	739	c.344G>A	c.(343-345)gGc>gAc	p.G115D	MYL12A_ENST00000578611.1_Splice_Site_p.G115D|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Splice_Site_p.G121D|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Splice_Site_p.G115D|MYL12A_ENST00000536605.1_Splice_Site_p.G115D	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	115	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						TATTCTCCAGGCACCATACAG	0.398																																																	0													78	73	75					18																	3255744		2203	4300	6503	SO:0001630	splice_region_variant	10627			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"Myosins / Light chain", "EF-hand domain containing"	16701	protein-coding gene	gene with protein product	"myosin regulatory light chain 3"		"myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.344-1G>A	18.37:g.3255744G>A			Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G115D	ENST00000217652.3	37	c.344	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403755	0.83230	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	D;D	0.85484	-1.99;-1.99	5.11	5.11	0.69529	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.98089	4.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.97177	0.9848	9	.	.	.	.	18.7353	0.91751	0.0:0.0:1.0:0.0	.	115;115	Q53X45;P19105	.;ML12A_HUMAN	D	115	ENSP00000217652:G115D;ENSP00000441231:G115D	.	G	+	2	0	MYL12A	3245744	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.263000	0.95617	2.657000	0.90304	0.555000	0.69702	GGC	MYL12A	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.398	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	G	NM_006471	Missense_Mutation	3255744	1	no_errors	ENST00000217652	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3255744	G	A	3255744	5	1	147	1	0	0	0	0	0	0	1	0	10068	1217	42	4	354	4	MYL12A	18	3255744	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		3255744	74821504	985	24239										
IMPA2	3613	genome.wustl.edu	37	chr18	11999180	11999180	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gttgcgagagaggtttccttCacacaggtaggtgtactcct	12	9	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:11999180C>T	ENST00000269159.3	+	2	466	c.224C>T	c.(223-225)tCa>tTa	p.S75L	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	75					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	AGGTTTCCTTCACACAGGTAG	0.488																																																	0													107	112	110					18																	11999180		2203	4300	6503	SO:0001583	missense	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.224C>T	18.37:g.11999180C>T	ENSP00000269159:p.Ser75Leu		B0YJ29|Q9UJT3	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.S75L	ENST00000269159.3	37	c.224	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032972	0.54790	.	.	ENSG00000141401	ENST00000269159;ENST00000383376	T;T	0.46819	0.86;0.86	5.38	5.38	0.77491	.	0.376195	0.25391	N	0.031017	T	0.51975	0.1706	M	0.79011	2.435	0.80722	D	1	B	0.22983	0.078	B	0.29077	0.098	T	0.54384	-0.8302	10	0.56958	D	0.05	-13.565	12.1658	0.54129	0.0:0.9208:0.0:0.0792	.	75	O14732	IMPA2_HUMAN	L	75	ENSP00000269159:S75L;ENSP00000372867:S75L	ENSP00000269159:S75L	S	+	2	0	IMPA2	11989180	0.996000	0.38824	0.996000	0.52242	0.899000	0.52679	3.650000	0.54424	2.529000	0.85273	0.655000	0.94253	TCA	IMPA2	-	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase		0.488	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	C			11999180	1	no_errors	ENST00000269159	ensembl	human	known	70_37	missense	SNP	0.990	T	T	11999180	C	T	11999180	3	4	147	1	0	0	0	0	1	0	0	0	7743	838	29	1	230	1	IMPA2	18	11999180	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	8743436	11999180	66078068	986	24240										
RNMT	8731	genome.wustl.edu	37	chr18	13731787	13731787	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgatcctgaaattgtcccaGaggaaaaagattgtggtgat	11	5	0	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:13731787G>C	ENST00000383314.2	+	3	511	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	RNMT_ENST00000262173.3_Missense_Mutation_p.E91Q|RNMT_ENST00000592764.1_Missense_Mutation_p.E91Q|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000543302.2_Missense_Mutation_p.E91Q|RNMT_ENST00000589866.1_Missense_Mutation_p.E91Q			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	91					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AATTGTCCCAGAGGAAAAAGA	0.373																																					GBM(29;474 594 19092 36647 41529)												0													79	86	84					18																	13731787		2203	4300	6503	SO:0001583	missense	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.271G>C	18.37:g.13731787G>C	ENSP00000372804:p.Glu91Gln		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E91Q	ENST00000383314.2	37	c.271	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351464	0.41700	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	5.23	0.72850	.	0.099993	0.43747	D	0.000525	T	0.60470	0.2271	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.989;0.993	P;P	0.58266	0.836;0.722	T	0.56117	-0.8032	9	0.29301	T	0.29	-25.0125	15.8788	0.79185	0.0:0.0:1.0:0.0	.	91;91	O43148-2;O43148	.;MCES_HUMAN	Q	91	.	ENSP00000262173:E91Q	E	+	1	0	RNMT	13721787	0.998000	0.40836	0.995000	0.50966	0.050000	0.14768	3.291000	0.51764	2.595000	0.87683	0.655000	0.94253	GAG	RNMT	-	pirsf_mRNA_G-N7_MeTrfase		0.373	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	G	NM_003799		13731787	1	no_errors	ENST00000262173	ensembl	human	known	70_37	missense	SNP	0.986	C	C	13731787	G	C	13731787	3	2	147	1	0	0	0	0	1	0	0	0	13536	943	33	1	273	1	RNMT	18	13731787	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1732607	13731787	64345461	987	24241										
MC2R	4158	genome.wustl.edu	37	chr18	13885164	13885164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcaatcacagacaggctgaaGatggagccaagcagggagag	15	8	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:13885164G>C	ENST00000327606.3	-	2	534	c.354C>G	c.(352-354)atC>atG	p.I118M		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	118					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGCTGAAGATGGAGCCAA	0.542																																					Colon(141;1584 1782 35999 48227 48692)												0													118	82	94					18																	13885164		2203	4300	6503	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.354C>G	18.37:g.13885164G>C	ENSP00000333821:p.Ile118Met		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.I118M	ENST00000327606.3	37	c.354	CCDS11869.1	18	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950844	0.34471	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.76316	2.08;-1.01	4.97	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83156	0.5193	M	0.72479	2.2	0.33880	D	0.636007	D	0.89917	1.0	D	0.81914	0.995	T	0.83237	-0.0060	10	0.24483	T	0.36	.	15.0187	0.71609	0.3033:0.0:0.6967:0.0	.	118	Q01718	ACTHR_HUMAN	M	118	ENSP00000333821:I118M;ENSP00000382718:I118M	ENSP00000333821:I118M	I	-	3	3	MC2R	13875164	0.907000	0.30839	0.945000	0.38365	0.760000	0.43138	0.017000	0.13399	-0.706000	0.05028	-0.157000	0.13467	ATC	MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	G			13885164	-1	no_errors	ENST00000327606	ensembl	human	known	70_37	missense	SNP	0.702	C	C	13885164	G	C	13885164	3	2	147	1	0	0	0	0	1	0	0	0	9387	932	33	1	543	1	MC2R	18	13885164	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	153377	13885164	64192084	988	24242										
KCTD1	284252	genome.wustl.edu	37	chr18	24127690	24127690	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggcccggcgccctgctcctCgagcttgcggatgaccgcgg	15	17	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:24127690C>G	ENST00000408011.3	-	1	545				KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_Missense_Mutation_p.E271Q|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCCTGCTCCTCGAGCTTGCGG	0.677																																																	0													32	34	33					18																	24127690		692	1591	2283	SO:0001627	intron_variant	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1164G>C	18.37:g.24127690C>G			A8K1F5	Missense_Mutation	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E271Q	ENST00000408011.3	37	c.811	CCDS11888.1	18	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562120	0.65538	.	.	ENSG00000134504	ENST00000417602	T	0.77098	-1.07	4.53	4.53	0.55603	.	.	.	.	.	D	0.85673	0.5751	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87621	0.2510	6	0.62326	D	0.03	.	16.2892	0.82738	0.0:1.0:0.0:0.0	.	.	.	.	Q	271	ENSP00000408405:E271Q	ENSP00000408405:E271Q	E	-	1	0	KCTD1	22381688	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	7.001000	0.76297	2.073000	0.62155	0.563000	0.77884	GAG	KCTD1	-	NULL		0.677	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1	C	XM_209091		24127690	-1	no_errors	ENST00000417602	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24127690	C	G	24127690	1	3	147	0	1	0	0	0	0	0	0	0	8116	893	31	1		1	KCTD1	18	24127690	Intron	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10242526	24127690	53949558	989	24243										
SMAD4	4089	genome.wustl.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																																	43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963						179	149	159					18																	48591918		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R361C	ENST00000342988.3	37	c.1081	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48591918	1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48591918	C	T	48591918	3	4	147	1	0	0	0	0	1	0	0	0	14790	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	24464228	48591918	29485330	990	24244										
NFATC1	4772	genome.wustl.edu	37	chr18	77170762	77170762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgctgagtctgcccagcctgGaggcctacagagacccctcg	12	16	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:77170762G>A	ENST00000427363.2	+	2	487	c.487G>A	c.(487-489)Gag>Aag	p.E163K	NFATC1_ENST00000587635.1_Missense_Mutation_p.E163K|NFATC1_ENST00000318065.5_Missense_Mutation_p.E150K|NFATC1_ENST00000586434.1_Missense_Mutation_p.E150K|NFATC1_ENST00000592223.1_Missense_Mutation_p.E150K|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.E163K|NFATC1_ENST00000591814.1_Missense_Mutation_p.E163K|NFATC1_ENST00000329101.4_Missense_Mutation_p.E150K|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.E163K			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	163	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GCCCAGCCTGGAGGCCTACAG	0.622																																					GBM(151;1210 2593 28719 45011)												0													36	37	37					18																	77170762		2203	4298	6501	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.487G>A	18.37:g.77170762G>A	ENSP00000389377:p.Glu163Lys		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E163K	ENST00000427363.2	37	c.487		18	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810708	0.90707	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.79033	-1.23;-1.23;-1.23	4.46	4.46	0.54185	.	0.058532	0.64402	D	0.000002	T	0.82033	0.4949	M	0.70275	2.135	0.80722	D	1	P;P;P;P;P;P;P	0.48911	0.917;0.917;0.917;0.917;0.917;0.917;0.917	P;P;P;P;P;P;P	0.49140	0.524;0.524;0.524;0.601;0.601;0.524;0.524	D	0.84491	0.0611	10	0.52906	T	0.07	-34.8409	17.2844	0.87137	0.0:0.0:1.0:0.0	.	150;150;163;163;163;150;163	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	K	163;163;163;150;150;127	ENSP00000253506:E163K;ENSP00000442435:E163K;ENSP00000327850:E150K	ENSP00000253506:E163K	E	+	1	0	NFATC1	75271750	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	8.901000	0.92560	2.293000	0.77203	0.561000	0.74099	GAG	NFATC1	-	NULL		0.622	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77170762	1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77170762	G	A	77170762	3	1	147	1	0	0	0	0	1	0	0	0	10385	1175	41	1	585	1	NFATC1	18	77170762	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	28578844	77170762	906486	991	24245										
BSG	682	genome.wustl.edu	37	chr19	577839	577839	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcagtgtggagctgcactgcGaggccgtgggcagcccggtg	19	11	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:577839G>T	ENST00000333511.3	+	2	203	c.133G>T	c.(133-135)Gag>Tag	p.E45*	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	45					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCACTGCGAGGCCGTGGG	0.701																																																	0													16	16	16					19																	577839		2177	4256	6433	SO:0001587	stop_gained	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.133G>T	19.37:g.577839G>T	ENSP00000333769:p.Glu45*		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E45*	ENST00000333511.3	37	c.133	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199875	0.79015	.	.	ENSG00000172270	ENST00000333511	.	.	.	3.53	2.47	0.30058	.	0.128288	0.50627	U	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-25.8943	10.0409	0.42158	0.1059:0.0:0.8941:0.0	.	.	.	.	X	45	.	ENSP00000333769:E45X	E	+	1	0	BSG	528839	1.000000	0.71417	0.597000	0.28824	0.506000	0.33950	4.635000	0.61332	0.572000	0.29383	-0.384000	0.06662	GAG	BSG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.701	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	G	NM_001728		577839	1	no_errors	ENST00000333511	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	577839	G	T	577839	4	4	147	1	0	0	0	0	0	1	0	0	1532	1059	37	3	175	3	BSG	19	577839	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		577839	58551144	992	24246										
ELANE	1991	genome.wustl.edu	37	chr19	855775	855775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgcactctcgtgaggggccGgcaggccggcgtctgtttcg	16	13	2	1	rs199659114		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:855775G>A	ENST00000590230.1	+	5	719	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	ELANE_ENST00000263621.1_Missense_Mutation_p.R193Q			P08246	ELNE_HUMAN	elastase, neutrophil expressed	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		Missing (in SCN1 and CH). {ECO:0000269|PubMed:11675333}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGAGGGGCCGGCAGGCCGGC	0.682																																																	0													38	38	38					19																	855775		2202	4296	6498	SO:0001583	missense	1991				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.578G>A	19.37:g.855775G>A	ENSP00000466090:p.Arg193Gln		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R193Q	ENST00000590230.1	37	c.578	CCDS12045.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382660	0.42207	.	.	ENSG00000197561	ENST00000263621	D	0.88431	-2.38	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.235967	0.21660	U	0.071032	D	0.86723	0.6001	N	0.21282	0.65	0.19945	N	0.999942	D	0.76494	0.999	P	0.58266	0.836	T	0.76708	-0.2860	10	0.13470	T	0.59	.	12.9545	0.58418	0.0:0.0:1.0:0.0	.	193	P08246	ELNE_HUMAN	Q	193	ENSP00000263621:R193Q	ENSP00000263621:R193Q	R	+	2	0	ELANE	806775	0.072000	0.21174	0.053000	0.19242	0.016000	0.09150	1.612000	0.36889	2.198000	0.70561	0.462000	0.41574	CGG	ELANE	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.682	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	HGNC	protein_coding	OTTHUMT00000457890.2	G	NM_001972		855775	1	no_errors	ENST00000263621	ensembl	human	known	70_37	missense	SNP	0.205	A	A	855775	G	A	855775	3	1	147	1	0	0	0	0	1	0	0	0	5060	1116	39	2	592	2	ELANE	19	855775	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	277936	855775	58273208	993	24247										
SGTA	6449	genome.wustl.edu	37	chr19	2765192	2765192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgagctggtacctgttgcaGaaatagacggcgttggctgg	15	8	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:2765192G>C	ENST00000221566.2	-	5	545	c.384C>G	c.(382-384)ttC>ttG	p.F128L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	128					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGTTGCAGAAATAGACGG	0.602																																																	0													98	82	88					19																	2765192		2203	4300	6503	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.384C>G	19.37:g.2765192G>C	ENSP00000221566:p.Phe128Leu		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F128L	ENST00000221566.2	37	c.384	CCDS12094.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821551	0.90873	.	.	ENSG00000104969	ENST00000221566	T	0.56444	0.46	4.96	2.83	0.33086	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.238221	0.43110	D	0.000605	T	0.46171	0.1379	L	0.28740	0.885	0.58432	D	0.999992	P	0.37997	0.614	P	0.47915	0.561	T	0.21518	-1.0243	10	0.21540	T	0.41	-18.6958	10.46	0.44575	0.1487:0.0:0.8513:0.0	.	128	O43765	SGTA_HUMAN	L	128	ENSP00000221566:F128L	ENSP00000221566:F128L	F	-	3	2	SGTA	2716192	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.744000	0.55112	2.286000	0.76751	0.655000	0.94253	TTC	SGTA	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.602	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	G	NM_003021		2765192	-1	no_errors	ENST00000221566	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2765192	G	C	2765192	3	2	147	1	0	0	0	0	1	0	0	0	14255	933	33	1	585	1	SGTA	19	2765192	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1909417	2765192	56363791	994	24248										
TLE6	79816	genome.wustl.edu	37	chr19	2986844	2986844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagataggaaacgtcttacaGattgtggagagctgcagcca	12	7	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:2986844G>C	ENST00000246112.4	+	6	441	c.240G>C	c.(238-240)caG>caC	p.Q80H	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_5'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	80					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTACAGATTGTGGAGA	0.498																																																	0													81	70	74					19																	2986844		692	1591	2283	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.240G>C	19.37:g.2986844G>C	ENSP00000246112:p.Gln80His		J3KMZ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.Q80H	ENST00000246112.4	37	c.240	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600865	0.28534	.	.	ENSG00000104953	ENST00000447920;ENST00000453329;ENST00000246112	T	0.24908	1.83	2.1	-0.206	0.13193	.	.	.	.	.	T	0.19046	0.0457	N	0.08118	0	0.09310	N	0.999999	D	0.53885	0.963	P	0.55391	0.775	T	0.12293	-1.0553	9	0.66056	D	0.02	.	4.1099	0.10053	0.4311:0.0:0.5689:0.0	.	80	C9JGZ7	.	H	80	ENSP00000246112:Q80H	ENSP00000246112:Q80H	Q	+	3	2	TLE6	2937844	0.002000	0.14202	0.000000	0.03702	0.091000	0.18340	1.097000	0.30988	0.013000	0.14918	0.542000	0.68232	CAG	TLE6	-	NULL		0.498	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	G	NM_024760		2986844	1	no_errors	ENST00000246112	ensembl	human	known	70_37	missense	SNP	0.000	C	C	2986844	G	C	2986844	3	2	147	1	0	0	0	0	1	0	0	0	15972	933	33	1	258	1	TLE6	19	2986844	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	221652	2986844	56142139	995	24249										
KDM4B	23030	genome.wustl.edu	37	chr19	5144886	5144886	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctctacaaggccaagttcatCtcctccgtcaccagccacat	5	17	4	0	rs374475077		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5144886C>T	ENST00000159111.4	+	21	3212	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	KDM4B_ENST00000536461.1_Silent_p.I1032I	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	998	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCAAGTTCATCTCCTCCGTCA	0.622																																																	0													78	66	70					19																	5144886		2203	4300	6503	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2994C>T	19.37:g.5144886C>T			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.I998	ENST00000159111.4	37	c.2994	CCDS12138.1	19																																																																																			KDM4B	-	smart_Tudor		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5144886	1	no_errors	ENST00000159111	ensembl	human	known	70_37	silent	SNP	0.971	T	T	5144886	C	T	5144886	2	4	147	1	0	0	0	0	0	0	0	1	8149	903	32	1		1	KDM4B	19	5144886	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2158042	5144886	53984097	996	24250										
PTPRS	5802	genome.wustl.edu	37	chr19	5219479	5219479	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagggactggctgcaaaggtCtgcagggaaaggaggggggt	20	5	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5219479C>T	ENST00000587303.1	-	22	3865		c.e22-1		PTPRS_ENST00000357368.4_Splice_Site|PTPRS_ENST00000353284.2_Splice_Site|PTPRS_ENST00000262963.6_Splice_Site|PTPRS_ENST00000372412.4_Splice_Site|PTPRS_ENST00000588012.1_Splice_Site|PTPRS_ENST00000592099.1_Splice_Site|PTPRS_ENST00000588552.1_Splice_Site|PTPRS_ENST00000348075.2_Splice_Site			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S						cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTGCAAAGGTCTGCAGGGAAA	0.592																																																	0													34	35	34					19																	5219479		2203	4300	6503	SO:0001630	splice_region_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3766-1G>A	19.37:g.5219479C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Splice_Site	SNP	-	e22-1	ENST00000587303.1	37	c.3769-1	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284479	0.59867	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4542	0.75299	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRS	5170479	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	5.299000	0.65716	1.873000	0.54277	0.557000	0.71058	.	PTPRS	-	-		0.592	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	C		Intron	5219479	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	5219479	C	T	5219479	5	4	147	1	0	0	0	0	0	0	1	0	12841	927	32	1	2145	1	PTPRS	19	5219479	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	74593	5219479	53909504	997	24251										
SAFB2	9667	genome.wustl.edu	37	chr19	5600247	5600247	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttcctccttcttctcaatCttctcttccttcttaattac	0	14	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5600247C>G	ENST00000252542.4	-	12	1848	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	528	Lys-rich.			K -> M (in Ref. 4; AAH25279). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCTTCTCAATCTTCTCTTCCT	0.418																																					Ovarian(127;888 1728 23957 44128 52668)												0													162	143	150					19																	5600247		2203	4300	6503	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1584G>C	19.37:g.5600247C>G	ENSP00000252542:p.Lys528Asn		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.K528N	ENST00000252542.4	37	c.1584	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520130	0.64747	.	.	ENSG00000130254	ENST00000252542	T	0.22539	1.95	4.23	1.6	0.23607	.	0.247257	0.29002	N	0.013452	T	0.14917	0.0360	L	0.46157	1.445	0.31240	N	0.695261	P	0.49185	0.92	B	0.37780	0.258	T	0.15723	-1.0427	10	0.46703	T	0.11	-7.597	7.9921	0.30246	0.0:0.7436:0.0:0.2564	.	528	Q14151	SAFB2_HUMAN	N	528	ENSP00000252542:K528N	ENSP00000252542:K528N	K	-	3	2	SAFB2	5551247	0.117000	0.22190	0.716000	0.30569	0.961000	0.63080	0.235000	0.17948	0.741000	0.32674	0.655000	0.94253	AAG	SAFB2	-	NULL		0.418	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1	C	NM_014649		5600247	-1	no_errors	ENST00000252542	ensembl	human	known	70_37	missense	SNP	0.889	G	G	5600247	C	G	5600247	3	3	147	1	0	0	0	0	1	0	0	0	13837	912	32	1	1317	1	SAFB2	19	5600247	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	380768	5600247	53528736	998	24252										
VAV1	7409	genome.wustl.edu	37	chr19	6828465	6828465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acgcaggaggcgatggagaaGgagaacctgcggctggccct	17	10	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:6828465G>A	ENST00000602142.1	+	11	1141	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	VAV1_ENST00000596764.1_Silent_p.K321K|VAV1_ENST00000539284.1_Silent_p.K256K|VAV1_ENST00000304076.2_Silent_p.K353K|VAV1_ENST00000599806.1_Silent_p.K298K	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	353	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGATGGAGAAGGAGAACCTGC	0.632																																																	0													62	64	63					19																	6828465		2203	4300	6503	SO:0001819	synonymous_variant	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1059G>A	19.37:g.6828465G>A			B4DVK9|M0QXX6|Q15860	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.K353	ENST00000602142.1	37	c.1059	CCDS12174.1	19																																																																																			VAV1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.632	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	G			6828465	1	no_errors	ENST00000602142	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6828465	G	A	6828465	2	1	147	1	0	0	0	0	0	0	0	1	17162	991	35	4		4	VAV1	19	6828465	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1228218	6828465	52300518	999	24253										
KIAA1543	57662	genome.wustl.edu	37	chr19	7671380	7671380	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaccgtccggcggctgcagGagaagaccgagcaggaagcg	17	11	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:7671380G>T	ENST00000160298.4	+	4	645	c.544G>T	c.(544-546)Gag>Tag	p.E182*	CAMSAP3_ENST00000446248.2_Nonsense_Mutation_p.E182*	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	182	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGCTGCAGGAGAAGACCGA	0.716																																																	0													10	13	12					19																	7671380		1902	4088	5990	SO:0001587	stop_gained	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.544G>T	19.37:g.7671380G>T	ENSP00000160298:p.Glu182*		Q8NDF1	Nonsense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E182*	ENST00000160298.4	37	c.544	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	37	6.082900	0.97267	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	.	.	.	4.28	4.28	0.50868	.	0.380597	0.23997	N	0.042509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.7292	13.6119	0.62083	0.0:0.0:1.0:0.0	.	.	.	.	X	182	.	ENSP00000160298:E182X	E	+	1	0	KIAA1543	7577380	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.988000	0.40697	1.942000	0.56320	0.289000	0.19496	GAG	CAMSAP3	-	pfam_CH-domain		0.716	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7671380	1	no_errors	ENST00000446248	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	7671380	G	T	7671380	4	4	147	1	0	0	0	0	0	1	0	0	8263	1175	41	3	558	3	KIAA1543	19	7671380	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	842915	7671380	51457603	1000	24254										
MUC16	94025	genome.wustl.edu	37	chr19	9065029	9065029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tactgccgtgtttgagaaagGatgaattttctccgtatctg	10	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:9065029G>A	ENST00000397910.4	-	3	22620	c.22417C>T	c.(22417-22419)Cct>Tct	p.P7473S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7475	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGAGAAAGGATGAATTTTC	0.473																																																	0													194	178	183					19																	9065029		1949	4149	6098	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22417C>T	19.37:g.9065029G>A	ENSP00000381008:p.Pro7473Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P7473S	ENST00000397910.4	37	c.22417	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	5.137	0.210868	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.26957	1.7	2.52	-0.00975	0.13999	.	.	.	.	.	T	0.26774	0.0655	N	0.24115	0.695	.	.	.	D	0.55172	0.97	P	0.57324	0.818	T	0.38156	-0.9674	8	0.87932	D	0	.	7.852	0.29459	0.0:0.5154:0.4846:0.0	.	7473	B5ME49	.	S	7473	ENSP00000381008:P7473S	ENSP00000381008:P7473S	P	-	1	0	MUC16	8926029	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.093000	0.03362	0.073000	0.16731	0.494000	0.49563	CCT	MUC16	-	NULL		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9065029	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	A	A	9065029	G	A	9065029	3	1	147	1	0	0	0	0	1	0	0	0	9996	1174	41	1	21434	1	MUC16	19	9065029	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1393649	9065029	50063954	1001	24255										
MUC16	94025	genome.wustl.edu	37	chr19	9071439	9071439	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggtgaagacatcagggaaGacacagagctggtttcttcc	12	9	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:9071439G>A	ENST00000397910.4	-	3	16210	c.16007C>T	c.(16006-16008)tCt>tTt	p.S5336F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5338	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCAGGGAAGACACAGAGCT	0.542																																																	0													104	108	106					19																	9071439		2042	4197	6239	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16007C>T	19.37:g.9071439G>A	ENSP00000381008:p.Ser5336Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5336F	ENST00000397910.4	37	c.16007	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	3.028	-0.200244	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.36520	1.25	2.21	1.1	0.20463	.	.	.	.	.	T	0.26738	0.0654	N	0.17082	0.46	.	.	.	D	0.59357	0.985	P	0.49477	0.612	T	0.31916	-0.9926	8	0.87932	D	0	.	5.9334	0.19152	0.0:0.0:0.6908:0.3092	.	5336	B5ME49	.	F	5336	ENSP00000381008:S5336F	ENSP00000381008:S5336F	S	-	2	0	MUC16	8932439	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.265000	0.18515	0.450000	0.26774	0.305000	0.20034	TCT	MUC16	-	NULL		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071439	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.005	A	A	9071439	G	A	9071439	3	1	147	1	0	0	0	0	1	0	0	0	9996	942	33	1	27844	1	MUC16	19	9071439	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6410	9071439	50057544	1002	24256										
MUC16	94025	genome.wustl.edu	37	chr19	9077593	9077593	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcaggtggggatggggagaGggagaccctttctgtagcca	17	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:9077593G>C	ENST00000397910.4	-	3	10056	c.9853C>G	c.(9853-9855)Ctc>Gtc	p.L3285V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3286	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGGGAGAGGGAGACCCTT	0.547																																																	0													104	107	106					19																	9077593		2072	4195	6267	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9853C>G	19.37:g.9077593G>C	ENSP00000381008:p.Leu3285Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L3285V	ENST00000397910.4	37	c.9853	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.034	0.374551	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.92	0.821	0.18799	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	.	.	.	P	0.50710	0.938	P	0.50754	0.649	T	0.46005	-0.9222	8	0.87932	D	0	.	6.2141	0.20646	0.0:0.3186:0.6814:0.0	.	3285	B5ME49	.	V	3285	ENSP00000381008:L3285V	ENSP00000381008:L3285V	L	-	1	0	MUC16	8938593	0.000000	0.05858	0.029000	0.17559	0.496000	0.33645	-1.176000	0.03099	0.340000	0.23745	0.313000	0.20887	CTC	MUC16	-	NULL		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9077593	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.042	C	C	9077593	G	C	9077593	3	2	147	1	0	0	0	0	1	0	0	0	9996	1000	35	4	33998	4	MUC16	19	9077593	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6154	9077593	50051390	1003	24257										
DNMT1	1786	genome.wustl.edu	37	chr19	10254660	10254660	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcacgggactggacagcttGatgctgcagagaagcaccca	12	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:10254660G>C	ENST00000340748.4	-	28	3085	c.2850C>G	c.(2848-2850)atC>atG	p.I950M	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Missense_Mutation_p.I966M|DNMT1_ENST00000540357.1_Missense_Mutation_p.I950M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	950					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGGACAGCTTGATGCTGCAGA	0.517																																																	0													125	110	115					19																	10254660		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2850C>G	19.37:g.10254660G>C	ENSP00000345739:p.Ile950Met		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.I966M	ENST00000340748.4	37	c.2898	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006114	0.35415	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.24723	1.84;1.84;1.84	5.68	0.672	0.17935	Bromo adjacent homology (BAH) domain (2);	0.236807	0.43260	D	0.000594	T	0.11410	0.0278	N	0.05510	-0.035	0.37398	D	0.912736	B;B;B	0.31383	0.171;0.321;0.205	B;B;B	0.31547	0.055;0.132;0.091	T	0.15093	-1.0449	10	0.48119	T	0.1	.	7.8695	0.29556	0.165:0.2708:0.5641:0.0	.	950;966;950	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	966;950;950;818	ENSP00000352516:I966M;ENSP00000440457:I950M;ENSP00000345739:I950M	ENSP00000345739:I950M	I	-	3	3	DNMT1	10115660	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.847000	0.27696	0.745000	0.32763	0.655000	0.94253	ATC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom		0.517	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	G	NM_001379		10254660	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10254660	G	C	10254660	3	2	147	1	0	0	0	0	1	0	0	0	4685	1280	45	1	2052	1	DNMT1	19	10254660	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1177067	10254660	48874323	1004	24258										
SMARCA4	6597	genome.wustl.edu	37	chr19	11101918	11101918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagcgcagcaagcgccagtcCctgcgcgaggcccgcatcac	12	17	1	0	rs569040381	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11101918C>T	ENST00000429416.3	+	9	1619	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	SMARCA4_ENST00000590574.1_Silent_p.S446S|SMARCA4_ENST00000589677.1_Silent_p.S446S|SMARCA4_ENST00000450717.3_Silent_p.S446S|SMARCA4_ENST00000413806.3_Silent_p.S446S|SMARCA4_ENST00000444061.3_Silent_p.S446S|SMARCA4_ENST00000358026.2_Silent_p.S446S|SMARCA4_ENST00000541122.2_Silent_p.S446S|SMARCA4_ENST00000344626.4_Silent_p.S446S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	446					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCCAGTCCCTGCGCGAGG	0.647			"F, N, Mis"		NSCLC								C|||	3	0.000599042	0.0023	0	5008	,	,		18745	0		0	False		,,,				2504	0							Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											42	40	41					19																	11101918		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1338C>T	19.37:g.11101918C>T			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.S446	ENST00000429416.3	37	c.1338	CCDS12253.1	19																																																																																			SMARCA4	-	NULL		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11101918	1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11101918	C	T	11101918	2	4	147	1	0	0	0	0	0	0	0	1	14800	610	22	4		4	SMARCA4	19	11101918	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	847258	11101918	48027065	1005	24259										
ECSIT	51295	genome.wustl.edu	37	chr19	11617188	11617188	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccctggatccacttagccatCgtcgcctggtcatgagcacc	9	16	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11617188C>T	ENST00000270517.7	-	8	1242	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000417981.2_Silent_p.T155T|ECSIT_ENST00000592312.1_3'UTR|ECSIT_ENST00000591352.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000591104.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	369					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACTTAGCCATCGTCGCCTGGT	0.632																																																	0													67	66	66					19																	11617188		2203	4300	6503	SO:0001819	synonymous_variant	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1107G>A	19.37:g.11617188C>T			E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	pfam_ECSIT	p.T369	ENST00000270517.7	37	c.1107	CCDS12262.1	19																																																																																			ECSIT	-	NULL		0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	C	NM_016581		11617188	-1	no_errors	ENST00000270517	ensembl	human	known	70_37	silent	SNP	0.031	T	T	11617188	C	T	11617188	2	4	147	1	0	0	0	0	0	0	0	1	4910	871	31	1		1	ECSIT	19	11617188	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	515270	11617188	47511795	1006	24260										
ACP5	54	genome.wustl.edu	37	chr19	11685968	11685968	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtcccatagtggaagcgcaGatagccgttggggaccttgc	14	10	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11685968G>A	ENST00000592828.1	-	7	1237	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	ACP5_ENST00000218758.5_Silent_p.L279L|ACP5_ENST00000590420.1_Silent_p.I36I|ACP5_ENST00000433365.2_Silent_p.L279L|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000412435.2_Silent_p.L279L	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	279					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						TGGAAGCGCAGATAGCCGTTG	0.562																																																	0													95	80	85					19																	11685968		2203	4300	6503	SO:0001819	synonymous_variant	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.835C>T	19.37:g.11685968G>A			A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Silent	SNP	pfam_Metallo_PEstase_dom	p.L279	ENST00000592828.1	37	c.835	CCDS12265.1	19																																																																																			ACP5	-	NULL		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	G			11685968	-1	no_errors	ENST00000218758	ensembl	human	known	70_37	silent	SNP	1.000	A	A	11685968	G	A	11685968	2	1	147	1	0	0	0	0	0	0	0	1	164	933	33	1		1	ACP5	19	11685968	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	68780	11685968	47443015	1007	24261										
ZNF439	90594	genome.wustl.edu	37	chr19	11979141	11979141	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aagcaatgtgggaaagccttCagatctgccccaaatcttca	8	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11979141C>G	ENST00000304030.2	+	3	1457	c.1257C>G	c.(1255-1257)ttC>ttG	p.F419L	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.F283L	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGAAAGCCTTCAGATCTGCCC	0.453																																																	0													70	66	67					19																	11979141		2203	4300	6503	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1257C>G	19.37:g.11979141C>G	ENSP00000305077:p.Phe419Leu		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F419L	ENST00000304030.2	37	c.1257	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	8.940	0.965472	0.18583	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.46063	0.88;0.88	0.575	-0.997	0.10215	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48804	0.1520	M	0.80982	2.52	0.25900	N	0.98337	P	0.48294	0.908	P	0.49887	0.625	T	0.44236	-0.9341	9	0.66056	D	0.02	.	5.2931	0.15737	0.0:0.5757:0.0:0.4243	.	419	Q8NDP4	ZN439_HUMAN	L	283;419	ENSP00000395632:F283L;ENSP00000305077:F419L	ENSP00000305077:F419L	F	+	3	2	ZNF439	11840141	0.001000	0.12720	0.008000	0.14137	0.048000	0.14542	-0.334000	0.07883	-0.341000	0.08376	0.194000	0.17425	TTC	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	C			11979141	1	no_errors	ENST00000304030	ensembl	human	known	70_37	missense	SNP	0.629	G	G	11979141	C	G	11979141	3	3	147	1	0	0	0	0	1	0	0	0	17941	825	29	1	1267	1	ZNF439	19	11979141	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	293173	11979141	47149842	1008	24262										
ZNF625	90589	genome.wustl.edu	37	chr19	12256835	12256835	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatgtacatttatatggcttCtgtccatattcctgatactc	5	9	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12256835C>G	ENST00000355738.1	-	4	547	c.198G>C	c.(196-198)caG>caC	p.Q66H	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.Q66H|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.Q132H|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TATATGGCTTCTGTCCATATT	0.448																																																	0													102	94	97					19																	12256835		2203	4300	6503	SO:0001583	missense	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.198G>C	19.37:g.12256835C>G	ENSP00000347977:p.Gln66His		A4FU45|I3L0E9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q132H	ENST00000355738.1	37	c.396		19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538158	0.45176	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.36520	1.25;1.25;1.25	0.856	0.856	0.19019	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42630	0.1211	L	0.52364	1.645	0.21861	N	0.999507	P;D	0.63880	0.943;0.993	P;P	0.55667	0.781;0.679	T	0.22836	-1.0205	9	0.87932	D	0	.	7.5453	0.27764	0.0:1.0:0.0:0.0	.	66;66	A8K8U0;Q96I27	.;ZN625_HUMAN	H	66;66;132	ENSP00000438436:Q66H;ENSP00000347977:Q66H;ENSP00000394380:Q132H	ENSP00000347977:Q66H	Q	-	3	2	AC022415.5	12117835	0.113000	0.22115	0.689000	0.30133	0.945000	0.59286	0.441000	0.21611	0.765000	0.33221	0.313000	0.20887	CAG	ZNF625	-	NULL		0.448	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	HGNC	protein_coding		C	NM_145233		12256835	-1	no_errors	ENST00000439556	ensembl	human	known	70_37	missense	SNP	0.867	G	G	12256835	C	G	12256835	3	3	147	1	0	0	0	0	1	0	0	0	18079	912	32	1	726	1	ZNF625	19	12256835	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	277694	12256835	46872148	1009	24263										
ZNF791	163049	genome.wustl.edu	37	chr19	12739205	12739205	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatttttcccagttttttaCgagtacatgaaagaattcac	5	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12739205C>T	ENST00000343325.4	+	4	1024	c.862C>T	c.(862-864)Cga>Tga	p.R288*	ZNF791_ENST00000540038.1_Nonsense_Mutation_p.R179*|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R256*|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CAGTTTTTTACGAGTACATGA	0.363																																																	0													48	43	45					19																	12739205		2203	4300	6503	SO:0001587	stop_gained	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.862C>T	19.37:g.12739205C>T	ENSP00000342974:p.Arg288*		B7Z586|Q8NC99	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R288*	ENST00000343325.4	37	c.862	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846770	0.71603	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	.	.	.	1.83	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	4.2646	0.10757	0.4287:0.3531:0.2183:0.0	.	.	.	.	X	288;270;256;179	.	ENSP00000342974:R288X	R	+	1	2	ZNF791	12600205	0.000000	0.05858	0.002000	0.10522	0.948000	0.59901	-0.971000	0.03806	-0.388000	0.07797	0.491000	0.48974	CGA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	C	NM_153358		12739205	1	no_errors	ENST00000343325	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	12739205	C	T	12739205	4	4	147	1	0	0	0	0	0	1	0	0	18193	528	19	2	876	2	ZNF791	19	12739205	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	482370	12739205	46389778	1010	24264										
C19orf43	79002	genome.wustl.edu	37	chr19	12841840	12841840	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agctttgtactttttcacttCtgccatgtacttggcccacg	7	12	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12841840C>T	ENST00000242784.4	-	3	583	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Missense_Mutation_p.E130K	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	156										endometrium(2)|large_intestine(2)	4						TTTTTCACTTCTGCCATGTAC	0.567																																																	0													180	156	164					19																	12841840		2203	4300	6503	SO:0001583	missense	79002			AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 18"					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.466G>A	19.37:g.12841840C>T	ENSP00000242784:p.Glu156Lys			Missense_Mutation	SNP	NULL	p.E156K	ENST00000242784.4	37	c.466	CCDS12279.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.179036	0.94846	.	.	ENSG00000123144	ENST00000242784	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.80763	-0.1237	9	0.87932	D	0	-12.2234	16.7561	0.85499	0.0:1.0:0.0:0.0	.	156	Q9BQ61	CS043_HUMAN	K	156	.	ENSP00000242784:E156K	E	-	1	0	C19orf43	12702840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.167000	0.77562	2.226000	0.72624	0.591000	0.81541	GAA	C19orf43	-	NULL		0.567	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C19orf43	HGNC	protein_coding	OTTHUMT00000450856.1	C	NM_024038		12841840	-1	no_errors	ENST00000242784	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12841840	C	T	12841840	3	4	147	1	0	0	0	0	1	0	0	0	1931	922	32	1	68	1	C19orf43	19	12841840	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	102635	12841840	46287143	1011	24265										
MAST1	22983	genome.wustl.edu	37	chr19	12954416	12954416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaacacgcccagttccaccGtctcggtgagtgtggaaagt	11	13	1	1	rs138461183	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12954416G>A	ENST00000251472.4	+	4	361	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	MAST1_ENST00000591495.1_Missense_Mutation_p.V104I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.V108I(4)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGTTCCACCGTCTCGGTGAG	0.652																																																	4	Substitution - Missense(4)	prostate(4)						G	ILE/VAL	0,4406		0,0,2203	58	46	50		322	4.4	0.9	19	dbSNP_134	50	4,8596	3.0+/-9.4	0,4,4296	yes	missense	MAST1	NM_014975.2	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	108/1571	12954416	4,13002	2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.322G>A	19.37:g.12954416G>A	ENSP00000251472:p.Val108Ile			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V108I	ENST00000251472.4	37	c.322	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359345	0.82353	0.0	4.65E-4	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.31247	1.5	4.43	4.43	0.53597	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.626691	0.14633	N	0.307666	T	0.34308	0.0893	M	0.64260	1.97	0.43527	D	0.9958	P;B	0.41475	0.751;0.119	B;B	0.38296	0.27;0.063	T	0.38757	-0.9646	10	0.72032	D	0.01	-33.8126	14.9453	0.71026	0.0:0.0:1.0:0.0	.	108;108	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	108	ENSP00000251472:V108I	ENSP00000251472:V108I	V	+	1	0	MAST1	12815416	1.000000	0.71417	0.926000	0.36857	0.988000	0.76386	7.498000	0.81546	2.189000	0.69895	0.655000	0.94253	GTC	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom		0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12954416	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.993	A	A	12954416	G	A	12954416	3	1	147	1	0	0	0	0	1	0	0	0	9347	1145	40	2	336	2	MAST1	19	12954416	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	112576	12954416	46174567	1012	24266										
FARSA	2193	genome.wustl.edu	37	chr19	13033634	13033634	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggggactgtcatacaccatCtgcaggttcaccttgtggcc	11	12	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:13033634C>T	ENST00000314606.4	-	13	1473	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	FARSA_ENST00000423140.2_Silent_p.Q454Q|FARSA_ENST00000588025.1_Silent_p.Q525Q|MIR5695_ENST00000579717.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	485					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CATACACCATCTGCAGGTTCA	0.577																																																	0													187	151	163					19																	13033634		2203	4300	6503	SO:0001819	synonymous_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1455G>A	19.37:g.13033634C>T			B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.Q485	ENST00000314606.4	37	c.1455	CCDS12287.1	19																																																																																			FARSA	-	pfscan_aa-tRNA-synth_II		0.577	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	HGNC	protein_coding	OTTHUMT00000451935.1	C	NM_004461		13033634	-1	no_errors	ENST00000314606	ensembl	human	known	70_37	silent	SNP	1.000	T	T	13033634	C	T	13033634	2	4	147	1	0	0	0	0	0	0	0	1	5697	912	32	1		1	FARSA	19	13033634	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	79218	13033634	46095349	1013	24267										
RAD23A	5886	genome.wustl.edu	37	chr19	13059322	13059322	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatttgcagctctgttccctCttcaggtagcagcgggcgag	12	11	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:13059322C>G	ENST00000586534.1	+	4	489	c.428C>G	c.(427-429)tCt>tGt	p.S143C	RAD23A_ENST00000592268.1_Missense_Mutation_p.S143C|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Intron|RAD23A_ENST00000316856.3_Missense_Mutation_p.S143C			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	143					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCTGTTCCCTCTTCAGGTAGC	0.632								Nucleotide excision repair (NER)																																									0													104	96	99					19																	13059322		2203	4300	6503	SO:0001583	missense	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.428C>G	19.37:g.13059322C>G	ENSP00000467024:p.Ser143Cys		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	pfam_XPC-bd,pfam_UBA/transl_elong_EF1B_N,pfam_Ubiquitin,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.S143C	ENST00000586534.1	37	c.428	CCDS12289.1	19	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400272	0.62177	.	.	ENSG00000179262	ENST00000316856	T	0.19669	2.13	4.27	4.27	0.50696	.	0.379543	0.23758	N	0.044846	T	0.25494	0.0620	N	0.19112	0.55	0.80722	D	1	P;D;D	0.64830	0.898;0.994;0.962	B;P;P	0.57204	0.284;0.815;0.515	T	0.04752	-1.0929	10	0.59425	D	0.04	-32.0387	13.6344	0.62215	0.0:1.0:0.0:0.0	.	143;160;143	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	C	143	ENSP00000321365:S143C	ENSP00000321365:S143C	S	+	2	0	RAD23A	12920322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.928000	0.63447	1.937000	0.56155	0.650000	0.86243	TCT	RAD23A	-	tigrfam_Rad23		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	HGNC	protein_coding	OTTHUMT00000452752.1	C	NM_005053		13059322	1	no_errors	ENST00000586534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13059322	C	G	13059322	3	3	147	1	0	0	0	0	1	0	0	0	13012	913	32	1	442	1	RAD23A	19	13059322	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	25688	13059322	46069661	1014	24268										
MRI1	81576	genome.wustl.edu	37	chr19	13875437	13875437	+	IGR	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatccgctactcgcggggctCcctgcagatcctagaccagc	11	16	0	2	rs137877795	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:13875437C>A	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.S12Y|MRI1_ENST00000040663.6_Missense_Mutation_p.S12Y			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCGCGGGGCTCCCTGCAGATC	0.692																																																	0													27	30	29					19																	13875437		2198	4293	6491	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875437C>A			Q9BQ72	Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.S12Y	ENST00000586600.1	37	c.35	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756698	0.49362	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.31247	1.5;1.5	5.08	5.08	0.68730	.	0.137927	0.48286	D	0.000187	T	0.62527	0.2435	M	0.91090	3.175	0.58432	D	0.999996	D;P	0.76494	0.999;0.761	D;P	0.69479	0.964;0.511	T	0.68454	-0.5404	10	0.45353	T	0.12	-21.3713	15.9996	0.80285	0.0:1.0:0.0:0.0	.	12;12	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	Y	12	ENSP00000040663:S12Y;ENSP00000314871:S12Y	ENSP00000040663:S12Y	S	+	2	0	MRI1	13736437	0.998000	0.40836	0.984000	0.44739	0.257000	0.26127	4.001000	0.57046	2.651000	0.90000	0.655000	0.94253	TCC	MRI1	-	tigrfam_IF-2BI_MTNA		0.692	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	C	NM_030818		13875437	1	no_errors	ENST00000040663	ensembl	human	known	70_37	missense	SNP	0.998	A	A	13875437	C	A	13875437	1	1	147	0	1	0	0	0	0	0	0	0	9793	855	30	3		3	MRI1	19	13875437	IGR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	816115	13875437	45253546	1015	24269										
CD97	976	genome.wustl.edu	37	chr19	14517945	14517945	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtctttggcctgttcatcttCgacgatcggagcttggtgct	12	10	3	0	rs373515389		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:14517945C>T	ENST00000242786.5	+	18	2360	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	CD97_ENST00000358600.3_Silent_p.F667F|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Silent_p.F711F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	760					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTTCATCTTCGACGATCGGA	0.612																																																	0													164	124	138					19																	14517945		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2280C>T	19.37:g.14517945C>T			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.F760	ENST00000242786.5	37	c.2280	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.612	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14517945	1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.008	T	T	14517945	C	T	14517945	2	4	147	1	0	0	0	0	0	0	0	1	3054	883	31	1		1	CD97	19	14517945	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	642508	14517945	44611038	1016	24270										
CASP14	23581	genome.wustl.edu	37	chr19	15164631	15164631	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttcgtggtactcatggctCacgggagggaaggcttcctc	13	12	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:15164631C>T	ENST00000427043.3	+	4	573	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.H89Y	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	89					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACTCATGGCTCACGGGAGGGA	0.562																																																	0													96	84	88					19																	15164631		2203	4300	6503	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.265C>T	19.37:g.15164631C>T	ENSP00000393417:p.His89Tyr		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.H89Y	ENST00000427043.3	37	c.265	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	c	16.05	3.014252	0.54468	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.39787	1.06;1.06	5.27	5.27	0.74061	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.088039	0.49305	N	0.000144	T	0.73179	0.3554	H	0.94183	3.505	0.58432	D	0.999997	D	0.69078	0.997	D	0.81914	0.995	T	0.81176	-0.1052	10	0.87932	D	0	.	14.3744	0.66862	0.0:1.0:0.0:0.0	.	89	P31944	CASPE_HUMAN	Y	89	ENSP00000393417:H89Y;ENSP00000221740:H89Y	ENSP00000221740:H89Y	H	+	1	0	CASP14	15025631	0.976000	0.34144	0.159000	0.22649	0.449000	0.32228	4.090000	0.57693	2.464000	0.83262	0.306000	0.20318	CAC	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.562	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	C	NM_012114		15164631	1	no_errors	ENST00000221740	ensembl	human	known	70_37	missense	SNP	0.642	T	T	15164631	C	T	15164631	3	4	147	1	0	0	0	0	1	0	0	0	2675	826	29	1	275	1	CASP14	19	15164631	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	646686	15164631	43964352	1017	24271										
OR1I1	126370	genome.wustl.edu	37	chr19	15198871	15198871	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggatcactgttggctgctaGggacacagagatgcatccca	12	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:15198871G>C	ENST00000209540.2	+	1	1081	c.995G>C	c.(994-996)aGg>aCg	p.R332T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ttggctgctagggacacagag	0.512																																																	0													70	49	56					19																	15198871		2203	4300	6503	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.995G>C	19.37:g.15198871G>C	ENSP00000209540:p.Arg332Thr		Q96R92	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R332T	ENST00000209540.2	37	c.995	CCDS32937.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921915	0.33908	.	.	ENSG00000094661	ENST00000209540	T	0.00626	6.13	2.8	-1.66	0.08265	.	.	.	.	.	T	0.00440	0.0014	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.46386	-0.9195	9	0.87932	D	0	.	7.0325	0.24975	0.6003:0.0:0.3997:0.0	.	332	O60431	OR1I1_HUMAN	T	332	ENSP00000209540:R332T	ENSP00000209540:R332T	R	+	2	0	OR1I1	15059871	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.384000	0.07389	-0.225000	0.09913	0.305000	0.20034	AGG	OR1I1	-	NULL		0.512	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	HGNC	protein_coding	OTTHUMT00000465665.1	G			15198871	1	no_errors	ENST00000209540	ensembl	human	known	70_37	missense	SNP	0.000	C	C	15198871	G	C	15198871	3	2	147	1	0	0	0	0	1	0	0	0	10982	1000	35	4	997	4	OR1I1	19	15198871	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	34240	15198871	43930112	1018	24272										
CYP4F12	66002	genome.wustl.edu	37	chr19	15807267	15807267	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	accccttccgctttgacccaGagaacagcaaggggaggtca	11	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:15807267G>C	ENST00000550308.1	+	12	1722	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.E448Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	448					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTTTGACCCAGAGAACAGCAA	0.562																																																	0													125	119	121					19																	15807267		2202	4300	6502	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1342G>C	19.37:g.15807267G>C	ENSP00000448998:p.Glu448Gln		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E448Q	ENST00000550308.1	37	c.1342	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	12.66	2.003476	0.35320	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.81415	-1.49;-1.49	2.31	2.31	0.28768	.	0.718111	0.11668	U	0.541159	D	0.84488	0.5483	M	0.89414	3.03	0.41573	D	0.988698	B	0.24576	0.106	B	0.34452	0.183	D	0.85628	0.1268	10	0.87932	D	0	.	10.711	0.45984	0.0:0.0:1.0:0.0	.	448	Q9HCS2	CP4FC_HUMAN	Q	448	ENSP00000448998:E448Q;ENSP00000321821:E448Q	ENSP00000321821:E448Q	E	+	1	0	CYP4F12	15668267	0.303000	0.24463	0.946000	0.38457	0.304000	0.27724	2.089000	0.41672	1.597000	0.50072	0.313000	0.20887	GAG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	G			15807267	1	no_errors	ENST00000324632	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15807267	G	C	15807267	3	2	147	1	0	0	0	0	1	0	0	0	4192	943	33	1	1384	1	CYP4F12	19	15807267	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	608396	15807267	43321716	1019	24273										
HSH2D	84941	genome.wustl.edu	37	chr19	16263369	16263369	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgcccttccagggatgctGagaacttgctggagtcacag	13	10	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:16263369G>A	ENST00000253680.6	+	5	664	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HSH2D_ENST00000593154.2_Missense_Mutation_p.E45K|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Missense_Mutation_p.E45K			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	45	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CAGGGATGCTGAGAACTTGCT	0.557																																																	0													71	69	70					19																	16263369		2038	4198	6236	SO:0001583	missense	84941			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.133G>A	19.37:g.16263369G>A	ENSP00000253680:p.Glu45Lys		B5ME72|Q6ZNG7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.E45K	ENST00000253680.6	37	c.133		19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659214	0.47467	.	.	ENSG00000196684	ENST00000253680	D	0.91740	-2.9	4.82	4.82	0.62117	SH2 motif (5);	0.000000	0.64402	D	0.000008	D	0.96423	0.8833	M	0.90425	3.115	0.24876	N	0.992254	D	0.76494	0.999	D	0.87578	0.998	D	0.91144	0.4948	10	0.87932	D	0	.	13.2833	0.60228	0.0:0.0:1.0:0.0	.	45	Q96JZ2	HSH2D_HUMAN	K	45	ENSP00000253680:E45K	ENSP00000253680:E45K	E	+	1	0	HSH2D	16124369	1.000000	0.71417	0.132000	0.22025	0.009000	0.06853	4.522000	0.60539	2.506000	0.84524	0.563000	0.77884	GAG	HSH2D	-	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2		0.557	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	HSH2D	HGNC	protein_coding		G	NM_032855		16263369	1	no_errors	ENST00000253680	ensembl	human	known	70_37	missense	SNP	0.210	A	A	16263369	G	A	16263369	3	1	147	1	0	0	0	0	1	0	0	0	7420	1291	45	1	139	1	HSH2D	19	16263369	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	456102	16263369	42865614	1020	24274										
HSH2D	84941	genome.wustl.edu	37	chr19	16263980	16263980	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccaccagcagaagccaattGagccgcgcagggagctgctg	13	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:16263980G>C	ENST00000253680.6	+	6	874	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	HSH2D_ENST00000593154.2_Missense_Mutation_p.E115Q|HSH2D_ENST00000397372.4_Missense_Mutation_p.E26Q|HSH2D_ENST00000588246.1_Missense_Mutation_p.E115Q			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	115	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GAAGCCAATTGAGCCGCGCAG	0.637																																																	0													15	18	17					19																	16263980		1996	4145	6141	SO:0001583	missense	84941			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.343G>C	19.37:g.16263980G>C	ENSP00000253680:p.Glu115Gln		B5ME72|Q6ZNG7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.E115Q	ENST00000253680.6	37	c.343		19	.	.	.	.	.	.	.	.	.	.	G	1.606	-0.525377	0.04141	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.42900	0.96	4.63	-1.37	0.09056	SH2 motif (3);	1.707120	0.03675	N	0.244607	T	0.19167	0.0460	N	0.10809	0.05	0.09310	N	1	B;B	0.18013	0.025;0.002	B;B	0.14023	0.01;0.004	T	0.07046	-1.0793	10	0.15066	T	0.55	.	0.5553	0.00669	0.2943:0.3219:0.1825:0.2014	.	58;115	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	Q	26;115	ENSP00000253680:E115Q	ENSP00000253680:E115Q	E	+	1	0	HSH2D	16124980	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.750000	0.04808	-0.282000	0.09128	0.591000	0.81541	GAG	HSH2D	-	smart_SH2,pfscan_SH2		0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	HSH2D	HGNC	protein_coding		G	NM_032855		16263980	1	no_errors	ENST00000253680	ensembl	human	known	70_37	missense	SNP	0.000	C	C	16263980	G	C	16263980	3	2	147	1	0	0	0	0	1	0	0	0	7420	1291	45	1	353	1	HSH2D	19	16263980	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	611	16263980	42865003	1021	24275										
NWD1	284434	genome.wustl.edu	37	chr19	16890254	16890254	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atggaagagcagcatgtgatCcacatgctaactggacacac	10	10	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:16890254C>T	ENST00000552788.1	+	10	2709	c.2709C>T	c.(2707-2709)atC>atT	p.I903I	NWD1_ENST00000339803.6_Silent_p.I768I|NWD1_ENST00000523826.1_Silent_p.I697I|NWD1_ENST00000379808.3_Silent_p.I903I|NWD1_ENST00000524140.2_Silent_p.I903I|NWD1_ENST00000549814.1_Silent_p.I903I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	903							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCATGTGATCCACATGCTAA	0.547											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													194	154	168					19																	16890254		2203	4300	6503	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2709C>T	19.37:g.16890254C>T		713	C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I903	ENST00000552788.1	37	c.2709		19																																																																																			NWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	C	NM_001007525		16890254	1	no_errors	ENST00000379808	ensembl	human	known	70_37	silent	SNP	0.055	T	T	16890254	C	T	16890254	2	4	147	1	0	0	0	0	0	0	0	1	10805	845	30	1		1	NWD1	19	16890254	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	626274	16890254	42238729	1022	24276										
ABHD8	79575	genome.wustl.edu	37	chr19	17405543	17405543	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggacgcaggtgggcatgttGaagattgagcagaagctggg	18	5	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17405543G>A	ENST00000247706.3	-	3	1112	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	291							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGGGCATGTTGAAGATTGAGC	0.607																																					Ovarian(156;1368 2543 15275 41187)												0													94	75	81					19																	17405543		2203	4300	6503	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.873C>T	19.37:g.17405543G>A			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.F291	ENST00000247706.3	37	c.873	CCDS12355.1	19																																																																																			ABHD8	-	pfam_AB_hydrolase_1		0.607	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	G	NM_024527		17405543	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17405543	G	A	17405543	2	1	147	1	0	0	0	0	0	0	0	1	87	1281	45	1		1	ABHD8	19	17405543	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	515289	17405543	41723440	1023	24277										
ABHD8	79575	genome.wustl.edu	37	chr19	17405645	17405645	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcatgtgccaggaatgtgcaGaaagagacactgcccggaac	12	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17405645G>A	ENST00000247706.3	-	3	1010	c.771C>T	c.(769-771)ttC>ttT	p.F257F	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	257							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGAATGTGCAGAAAGAGACAC	0.532																																					Ovarian(156;1368 2543 15275 41187)												0													64	53	57					19																	17405645		2203	4300	6503	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.771C>T	19.37:g.17405645G>A			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.F257	ENST00000247706.3	37	c.771	CCDS12355.1	19																																																																																			ABHD8	-	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like		0.532	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	G	NM_024527		17405645	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17405645	G	A	17405645	2	1	147	1	0	0	0	0	0	0	0	1	87	933	33	1		1	ABHD8	19	17405645	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	102	17405645	41723338	1024	24278										
UNC13A	23025	genome.wustl.edu	37	chr19	17738365	17738365	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccaagacgttattgagtttCacctgaagctccttcaggat	8	10	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17738365C>T	ENST00000519716.2	-	33	3872	c.3873G>A	c.(3871-3873)gtG>gtA	p.V1291V	UNC13A_ENST00000550896.1_Silent_p.V1289V|UNC13A_ENST00000252773.7_Silent_p.V1291V|UNC13A_ENST00000552293.1_Silent_p.V1291V|UNC13A_ENST00000551649.1_Silent_p.V1291V|UNC13A_ENST00000428389.2_Silent_p.V1379V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1291					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TATTGAGTTTCACCTGAAGCT	0.562																																																	0													23	27	26					19																	17738365		1969	4150	6119	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3873G>A	19.37:g.17738365C>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V1379	ENST00000519716.2	37	c.4137	CCDS46013.2	19																																																																																			UNC13A	-	NULL		0.562	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	C	XM_038604		17738365	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17738365	C	T	17738365	2	4	147	1	0	0	0	0	0	0	0	1	17015	813	29	1		1	UNC13A	19	17738365	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	332720	17738365	41390618	1025	24279										
MAP1S	55201	genome.wustl.edu	37	chr19	17838524	17838524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	caggaacgggcaggtgggctGggggccgaggagacgccacc	20	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17838524G>A	ENST00000324096.4	+	5	2482	c.2331G>A	c.(2329-2331)ctG>ctA	p.L777L	MAP1S_ENST00000544059.2_Silent_p.L751L|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	777	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGGTGGGCTGGGGGCCGAGG	0.687																																																	0													19	20	19					19																	17838524		2194	4294	6488	SO:0001819	synonymous_variant	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2331G>A	19.37:g.17838524G>A			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	NULL	p.L777	ENST00000324096.4	37	c.2331	CCDS32954.1	19																																																																																			MAP1S	-	NULL		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17838524	1	no_errors	ENST00000324096	ensembl	human	known	70_37	silent	SNP	0.000	A	A	17838524	G	A	17838524	2	1	147	1	0	0	0	0	0	0	0	1	9257	1335	47	4		4	MAP1S	19	17838524	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	100159	17838524	41290459	1026	24280										
MAST3	23031	genome.wustl.edu	37	chr19	18255336	18255336	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tagcatcggcgcccgacactCcacaccaaggcctctggatg	10	16	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18255336C>G	ENST00000262811.6	+	22	2558	c.2558C>G	c.(2557-2559)tCc>tGc	p.S853C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	853							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCGACACTCCACACCAAGG	0.682																																																	0													14	20	18					19																	18255336		1967	4152	6119	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2558C>G	19.37:g.18255336C>G	ENSP00000262811:p.Ser853Cys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S853C	ENST00000262811.6	37	c.2558	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641260	0.47153	.	.	ENSG00000099308	ENST00000262811	T	0.68765	-0.35	4.57	3.45	0.39498	.	0.000000	0.64402	D	0.000001	T	0.78698	0.4324	M	0.76328	2.33	0.47245	D	0.999367	D	0.89917	1.0	D	0.69142	0.962	T	0.79918	-0.1600	10	0.46703	T	0.11	-26.7746	13.0731	0.59072	0.0:0.8376:0.1624:0.0	.	853	O60307	MAST3_HUMAN	C	853	ENSP00000262811:S853C	ENSP00000262811:S853C	S	+	2	0	MAST3	18116336	0.998000	0.40836	0.913000	0.36048	0.042000	0.13812	2.896000	0.48656	2.100000	0.63781	0.491000	0.48974	TCC	MAST3	-	NULL		0.682	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18255336	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.995	G	G	18255336	C	G	18255336	3	3	147	1	0	0	0	0	1	0	0	0	9349	855	30	1	2644	1	MAST3	19	18255336	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	416812	18255336	40873647	1027	24281										
ELL	8178	genome.wustl.edu	37	chr19	18632761	18632761	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cggtagctctcgaaggccctCagggcactgtcggtgagctt	14	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18632761C>G	ENST00000262809.4	-	1	176	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	35					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGAAGGCCCTCAGGGCACTGT	0.701			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													46	36	39					19																	18632761		2203	4300	6503	SO:0001819	synonymous_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.105G>C	19.37:g.18632761C>G				Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L35	ENST00000262809.4	37	c.105	CCDS12380.1	19																																																																																			ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.701	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18632761	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	silent	SNP	1.000	G	G	18632761	C	G	18632761	2	3	147	1	0	0	0	0	0	0	0	1	5074	813	29	1		1	ELL	19	18632761	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	377425	18632761	40496222	1028	24282										
CRTC1	23373	genome.wustl.edu	37	chr19	18857921	18857921	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acccgcggacaccagctggaGaaggtcagtggctggacacc	14	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18857921G>A	ENST00000321949.8	+	4	466	c.440G>A	c.(439-441)aGa>aAa	p.R147K	CRTC1_ENST00000601916.1_Missense_Mutation_p.R72K|CRTC1_ENST00000338797.6_Missense_Mutation_p.R163K|CRTC1_ENST00000594658.1_Missense_Mutation_p.R106K	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACCAGCTGGAGAAGGTCAGTG	0.592																																																	0													77	71	73					19																	18857921		2203	4300	6503	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.440G>A	19.37:g.18857921G>A	ENSP00000323332:p.Arg147Lys			Missense_Mutation	SNP	NULL	p.R163K	ENST00000321949.8	37	c.488	CCDS32963.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.200583	0.94997	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.14766	2.48;2.51	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.78801	2.425	0.53688	D	0.999978	D;P;D	0.71674	0.982;0.916;0.998	D;D;D	0.77557	0.935;0.928;0.99	T	0.33214	-0.9877	10	0.62326	D	0.03	-13.0343	16.5026	0.84261	0.0:0.0:1.0:0.0	.	147;163;147	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	K	147;163;147	ENSP00000345001:R163K;ENSP00000323332:R147K	ENSP00000262813:R147K	R	+	2	0	CRTC1	18718921	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.949000	0.93012	2.238000	0.73509	0.313000	0.20887	AGA	CRTC1	-	NULL		0.592	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	G	NM_025021		18857921	1	no_errors	ENST00000338797	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18857921	G	A	18857921	3	1	147	1	0	0	0	0	1	0	0	0	3904	942	33	1	506	1	CRTC1	19	18857921	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	225160	18857921	40271062	1029	24283										
UQCRFS1	7386	genome.wustl.edu	37	chr19	29698958	29698958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggagaaacctttcctagcctCgctgctttctcttgaagact	8	12	1	3	rs141991079	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:29698958C>T	ENST00000304863.4	-	2	744	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	108					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.E108K(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TTCCTAGCCTCGCTGCTTTCT	0.468																																																	1	Substitution - Missense(1)	lung(1)						C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	103	81	88		322	4.4	0.7	19	dbSNP_134	88	0,8600		0,0,4300	no	missense	UQCRFS1	NM_006003.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	108/275	29698958	2,13004	2203	4300	6503	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.322G>A	19.37:g.29698958C>T	ENSP00000306397:p.Glu108Lys		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.E108K	ENST00000304863.4	37	c.322	CCDS12415.1	19	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280532	0.23392	4.54E-4	0.0	ENSG00000169021	ENST00000304863	T	0.43294	0.95	5.42	4.37	0.52481	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.103648	0.64402	D	0.000004	T	0.45677	0.1354	M	0.78456	2.415	0.54753	D	0.999985	B	0.23058	0.079	B	0.19946	0.027	T	0.41734	-0.9492	10	0.33141	T	0.24	.	14.893	0.70623	0.0:0.8507:0.1493:0.0	.	108	P47985	UCRI_HUMAN	K	108	ENSP00000306397:E108K	ENSP00000306397:E108K	E	-	1	0	UQCRFS1	34390798	1.000000	0.71417	0.717000	0.30585	0.088000	0.18126	4.551000	0.60740	1.243000	0.43853	0.462000	0.41574	GAG	UQCRFS1	-	pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM		0.468	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1	C	NM_006003		29698958	-1	no_errors	ENST00000304863	ensembl	human	known	70_37	missense	SNP	0.991	T	T	29698958	C	T	29698958	3	4	147	1	0	0	0	0	1	0	0	0	17052	893	31	1	506	1	UQCRFS1	19	29698958	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10841037	29698958	29430025	1030	24284										
ZNF536	9745	genome.wustl.edu	37	chr19	31039367	31039367	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggctgaccccccttccatGaaagtccacggagtggatgg	12	13	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:31039367G>A	ENST00000355537.3	+	4	2988	c.2841G>A	c.(2839-2841)atG>atA	p.M947I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	947					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCTTCCATGAAAGTCCACG	0.527																																																	0													125	134	131					19																	31039367		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2841G>A	19.37:g.31039367G>A	ENSP00000347730:p.Met947Ile		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M947I	ENST00000355537.3	37	c.2841	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.596484	0.00857	.	.	ENSG00000198597	ENST00000355537	T	0.07327	3.2	5.42	3.27	0.37495	.	0.588826	0.18940	N	0.126948	T	0.05502	0.0145	N	0.24115	0.695	0.35666	D	0.812916	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.23476	-1.0187	10	0.45353	T	0.12	-7.1742	5.6307	0.17508	0.2741:0.158:0.5679:0.0	.	947;947	A7E228;O15090	.;ZN536_HUMAN	I	947	ENSP00000347730:M947I	ENSP00000347730:M947I	M	+	3	0	ZNF536	35731207	0.989000	0.36119	0.900000	0.35374	0.943000	0.58893	1.580000	0.36547	0.635000	0.30488	0.491000	0.48974	ATG	ZNF536	-	NULL		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		31039367	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.998	A	A	31039367	G	A	31039367	3	1	147	1	0	0	0	0	1	0	0	0	18004	1290	45	1	2851	1	ZNF536	19	31039367	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1340409	31039367	28089616	1031	24285										
LSM14A	26065	genome.wustl.edu	37	chr19	34712417	34712417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgcttttataatagagaacGgagaccaacctgggctgaag	11	7	0	3	rs201032730		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:34712417G>A	ENST00000433627.5	+	9	1217	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	LSM14A_ENST00000540746.2_Missense_Mutation_p.R340Q|LSM14A_ENST00000544216.3_Missense_Mutation_p.R381Q	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	381					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATAGAGAACGGAGACCAACC	0.423																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	52	48	49		1142,1142	4.9	1	19		49	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	LSM14A	NM_001114093.1,NM_015578.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	381/464,381/464	34712417	1,13005	2203	4300	6503	SO:0001583	missense	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1142G>A	19.37:g.34712417G>A	ENSP00000413964:p.Arg381Gln		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.R381Q	ENST00000433627.5	37	c.1142	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	g	23.6	4.429957	0.83776	0.0	1.16E-4	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32023	1.47;1.47;1.49	5.96	4.93	0.64822	FFD/TFG box motif (1);	0.055636	0.64402	N	0.000001	T	0.16727	0.0402	N	0.11255	0.115	0.54753	D	0.999983	P;P;P	0.42757	0.789;0.496;0.643	B;B;B	0.38264	0.269;0.062;0.106	T	0.06006	-1.0851	10	0.15066	T	0.55	-1.8085	15.0274	0.71680	0.0679:0.0:0.9321:0.0	.	340;381;381	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	Q	381;381;340	ENSP00000446271:R381Q;ENSP00000413964:R381Q;ENSP00000446451:R340Q	ENSP00000314768:R381Q	R	+	2	0	LSM14A	39404257	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	7.521000	0.81832	1.533000	0.49186	0.655000	0.94253	CGG	LSM14A	-	NULL		0.423	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	G	NM_015578		34712417	1	no_errors	ENST00000433627	ensembl	human	known	70_37	missense	SNP	0.993	A	A	34712417	G	A	34712417	3	1	147	1	0	0	0	0	1	0	0	0	9077	1116	39	2	1176	2	LSM14A	19	34712417	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3673050	34712417	24416566	1032	24286										
MLL4	9757	genome.wustl.edu	37	chr19	36217210	36217210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgggacgtcgagtggtctgGagattacagcctctgcccca	13	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:36217210G>C	ENST00000222270.7	+	14	3959	c.3959G>C	c.(3958-3960)gGa>gCa	p.G1320A	KMT2B_ENST00000420124.1_Missense_Mutation_p.G1320A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1320					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGTGGTCTGGAGATTACAGC	0.617																																																	0													65	69	68					19																	36217210		1956	4154	6110	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3959G>C	19.37:g.36217210G>C	ENSP00000222270:p.Gly1320Ala		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.G1320A	ENST00000222270.7	37	c.3959	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334014	0.60853	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82893	-1.66;-1.66	5.14	5.14	0.70334	.	0.000000	0.40818	N	0.001014	T	0.71143	0.3305	N	0.22421	0.69	0.38319	D	0.943473	D	0.57257	0.979	P	0.46718	0.525	T	0.68640	-0.5355	10	0.10377	T	0.69	.	7.6158	0.28156	0.171:0.0:0.829:0.0	.	1320	Q9UMN6	MLL4_HUMAN	A	1320	ENSP00000222270:G1320A;ENSP00000398837:G1320A	ENSP00000222270:G1320A	G	+	2	0	AD000671.1	40909050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.025000	0.70864	2.677000	0.91161	0.655000	0.94253	GGA	WBP7	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36217210	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36217210	G	C	36217210	3	2	147	1	0	0	0	0	1	0	0	0	9646	1174	41	1	4013	1	MLL4	19	36217210	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1504793	36217210	22911773	1033	24287										
PRODH2	58510	genome.wustl.edu	37	chr19	36303700	36303700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacagagcacgtaacaggtcCggagcatcctgggtccctgg	13	12	0	1	rs370209287		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:36303700C>T	ENST00000301175.3	-	2	253	c.236G>A	c.(235-237)cGg>cAg	p.R79Q		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	79					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTAACAGGTCCGGAGCATCCT	0.632																																																	0								C	GLN/ARG	0,4406		0,0,2203	40	38	38		236	-3.1	0	19		38	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRODH2	NM_021232.1	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	79/537	36303700	1,13003	2203	4299	6502	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.236G>A	19.37:g.36303700C>T	ENSP00000301175:p.Arg79Gln			Missense_Mutation	SNP	pfam_Proline_DH	p.R79Q	ENST00000301175.3	37	c.236	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502756	0.26949	0.0	1.16E-4	ENSG00000250799	ENST00000301175	T	0.26660	1.72	4.77	-3.1	0.05315	.	.	.	.	.	T	0.10294	0.0252	N	0.12746	0.255	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.37957	-0.9683	9	0.13470	T	0.59	.	5.4132	0.16360	0.0:0.4445:0.2481:0.3075	.	79	Q9UF12	PROD2_HUMAN	Q	79	ENSP00000301175:R79Q	ENSP00000301175:R79Q	R	-	2	0	PRODH2	40995540	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.114000	0.15520	-0.466000	0.06943	-0.216000	0.12614	CGG	PRODH2	-	NULL		0.632	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2	C	NM_021232		36303700	-1	no_errors	ENST00000301175	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36303700	C	T	36303700	3	4	147	1	0	0	0	0	1	0	0	0	12576	652	23	2	1414	2	PRODH2	19	36303700	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	86490	36303700	22825283	1034	24288										
ZNF829	374899	genome.wustl.edu	37	chr19	37399292	37399292	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctttgtataaattcatctGatcagcgtccaggcattccc	6	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:37399292G>A	ENST00000391711.3	-	4	530	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	ZNF829_ENST00000520965.1_Nonsense_Mutation_p.Q137*|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATTCATCTGATCAGCGTCC	0.428																																																	0													121	123	123					19																	37399292		2172	4283	6455	SO:0001587	stop_gained	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.166C>T	19.37:g.37399292G>A	ENSP00000429266:p.Gln56*		Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q137*	ENST00000391711.3	37	c.409	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.433731	0.97564	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8102	0.57635	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000429266:Q56X	Q	-	1	0	ZNF829	42091132	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	4.751000	0.62169	2.474000	0.83562	0.591000	0.81541	CAG	ZNF829	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37399292	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	nonsense	SNP	0.976	A	A	37399292	G	A	37399292	4	1	147	1	0	0	0	0	0	1	0	0	18212	1299	45	1	1144	1	ZNF829	19	37399292	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1095592	37399292	21729691	1035	24289										
HKR1	284459	genome.wustl.edu	37	chr19	37853492	37853492	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacctccttagcctccagaaGacacaaactggggagacacc	8	14	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:37853492G>A	ENST00000324411.4	+	6	1064	c.795G>A	c.(793-795)aaG>aaA	p.K265K	HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000392153.3_Silent_p.K246K|HKR1_ENST00000541583.2_Silent_p.K204K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Silent_p.K247K	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	265					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTCCAGAAGACACAAACTG	0.458																																																	0													47	48	48					19																	37853492		2203	4300	6503	SO:0001819	synonymous_variant	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.795G>A	19.37:g.37853492G>A			A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K265	ENST00000324411.4	37	c.795	CCDS12502.1	19																																																																																			HKR1	-	NULL		0.458	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1	G	NM_181786		37853492	1	no_errors	ENST00000324411	ensembl	human	known	70_37	silent	SNP	0.092	A	A	37853492	G	A	37853492	2	1	147	1	0	0	0	0	0	0	0	1	7214	933	33	1		1	HKR1	19	37853492	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	454200	37853492	21275491	1036	24290										
SPINT2	10653	genome.wustl.edu	37	chr19	38755600	38755600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgggatcgctgctcctctCtggggtcctggcggccgacc	15	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:38755600C>G	ENST00000301244.7	+	1	503	c.68C>G	c.(67-69)tCt>tGt	p.S23C	SPINT2_ENST00000454580.3_Missense_Mutation_p.S23C|SPINT2_ENST00000587090.1_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	23					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGCTCCTCTCTGGGGTCCTG	0.741																																																	0													8	9	9					19																	38755600		1998	3929	5927	SO:0001583	missense	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.68C>G	19.37:g.38755600C>G	ENSP00000301244:p.Ser23Cys		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S23C	ENST00000301244.7	37	c.68	CCDS12510.1	19	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938039	0.52972	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.63255	0.4;-0.03	3.58	-0.352	0.12598	.	0.689823	0.12021	N	0.506916	T	0.42268	0.1195	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21930	-1.0231	10	0.36615	T	0.2	.	4.9677	0.14098	0.0:0.3852:0.4672:0.1476	.	23;23	B4DLU1;O43291	.;SPIT2_HUMAN	C	23	ENSP00000301244:S23C;ENSP00000389788:S23C	ENSP00000301244:S23C	S	+	2	0	SPINT2	43447440	0.003000	0.15002	0.189000	0.23252	0.738000	0.42128	-0.120000	0.10660	0.014000	0.14944	0.457000	0.33378	TCT	SPINT2	-	NULL		0.741	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT2	HGNC	protein_coding	OTTHUMT00000458151.2	C			38755600	1	no_errors	ENST00000301244	ensembl	human	known	70_37	missense	SNP	0.266	G	G	38755600	C	G	38755600	3	3	147	1	0	0	0	0	1	0	0	0	15099	913	32	1	70	1	SPINT2	19	38755600	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	902108	38755600	20373383	1037	24291										
CATSPERG	57828	genome.wustl.edu	37	chr19	38860841	38860841	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcaactaccagctcaccttCctgctgcacatccacgggct	7	17	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:38860841C>T	ENST00000409235.3	+	28	3271	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.F1012F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1052					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCTCACCTTCCTGCTGCACA	0.617																																																	0													66	53	58					19																	38860841		2203	4300	6503	SO:0001819	synonymous_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3156C>T	19.37:g.38860841C>T			A6NEG6|Q659E1	Silent	SNP	NULL	p.F1052	ENST00000409235.3	37	c.3156	CCDS12514.2	19																																																																																			CATSPERG	-	NULL		0.617	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	C	NM_021185		38860841	1	no_errors	ENST00000409235	ensembl	human	known	70_37	silent	SNP	0.362	T	T	38860841	C	T	38860841	2	4	147	1	0	0	0	0	0	0	0	1	2697	854	30	1		1	CATSPERG	19	38860841	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	105241	38860841	20268142	1038	24292										
FCGBP	8857	genome.wustl.edu	37	chr19	40411960	40411960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgcagctggaggactcacagGacaccaggccgccctcctgg	13	16	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:40411960G>T	ENST00000221347.6	-	7	3675	c.3668C>A	c.(3667-3669)tCc>tAc	p.S1223Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1223	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACTCACAGGACACCAGGCC	0.677																																																	0													47	47	47					19																	40411960		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3668C>A	19.37:g.40411960G>T	ENSP00000221347:p.Ser1223Tyr		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S1223Y	ENST00000221347.6	37	c.3668	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	5.771	0.326589	0.10900	.	.	ENSG00000090920	ENST00000221347	T	0.05081	3.5	4.39	3.3	0.37823	.	1.004890	0.08012	N	0.990502	T	0.21841	0.0526	M	0.73217	2.22	0.18873	N	0.999982	D	0.76494	0.999	D	0.79784	0.993	T	0.09574	-1.0668	10	0.49607	T	0.09	.	7.8472	0.29433	0.0999:0.1796:0.7205:0.0	.	1223	Q9Y6R7	FCGBP_HUMAN	Y	1223	ENSP00000221347:S1223Y	ENSP00000221347:S1223Y	S	-	2	0	FCGBP	45103800	0.049000	0.20398	0.740000	0.30986	0.114000	0.19823	0.249000	0.18216	2.278000	0.76064	0.436000	0.28706	TCC	FCGBP	-	smart_VWC_out,smart_VWF_C		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40411960	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.428	T	T	40411960	G	T	40411960	3	4	147	1	0	0	0	0	1	0	0	0	5796	1174	41	3	12669	3	FCGBP	19	40411960	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1551119	40411960	18717023	1039	24293										
TTC9B	148014	genome.wustl.edu	37	chr19	40723221	40723221	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgctgcttctccagtaccttGagacagtactcgcgcacgcg	10	14	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:40723221G>C	ENST00000311308.6	-	2	500	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGTACCTTGAGACAGTACT	0.657																																																	0													98	71	80					19																	40723221		2203	4300	6503	SO:0001819	synonymous_variant	148014			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"Tetratricopeptide (TTC) repeat domain containing"	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.483C>G	19.37:g.40723221G>C			A8K0I5|Q96NP9	Silent	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L161	ENST00000311308.6	37	c.483	CCDS12550.1	19																																																																																			TTC9B	-	pfscan_TPR-contain_dom		0.657	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9B	HGNC	protein_coding	OTTHUMT00000462604.1	G	NM_152479		40723221	-1	no_errors	ENST00000311308	ensembl	human	known	70_37	silent	SNP	1.000	C	C	40723221	G	C	40723221	2	2	147	1	0	0	0	0	0	0	0	1	16747	1277	45	1		1	TTC9B	19	40723221	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	311261	40723221	18405762	1040	24294										
TMEM145	284339	genome.wustl.edu	37	chr19	42820827	42820827	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcccagccaagctgctcttCtcctccagcttcctcatctt	4	19	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:42820827C>T	ENST00000301204.3	+	10	782	c.741C>T	c.(739-741)ttC>ttT	p.F247F	TMEM145_ENST00000598766.1_Silent_p.F271F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	247					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGCTGCTCTTCTCCTCCAGCT	0.657																																																	0													80	73	76					19																	42820827		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.741C>T	19.37:g.42820827C>T				Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.F247	ENST00000301204.3	37	c.741	CCDS12603.1	19																																																																																			TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.657	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	C	NM_173633		42820827	1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42820827	C	T	42820827	2	4	147	1	0	0	0	0	0	0	0	1	16089	912	32	1		1	TMEM145	19	42820827	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2097606	42820827	16308156	1041	24295										
PSG1	5669	genome.wustl.edu	37	chr19	43373185	43373185	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atgtagggcttgggcagcttCgctgtgtggataacagagag	16	6	0	1	rs4030951		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:43373185C>T	ENST00000436291.2	-	4	827	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG1_ENST00000595356.1_Splice_Site_p.P237P|PSG1_ENST00000312439.6_Splice_Site_p.P237P|PSG1_ENST00000403380.3_Splice_Site_p.P144P|PSG1_ENST00000595124.1_Splice_Site_p.P144P|PSG1_ENST00000244296.2_Splice_Site_p.P237P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P237P(3)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.473													.|||	1	0.000199681	8e-04	0	5008	,	,		20661	0		0	False		,,,				2504	0																3	Substitution - coding silent(3)	endometrium(3)											149	165	160					19																	43373185		1510	2707	4217	SO:0001630	splice_region_variant	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.710-1G>A	19.37:g.43373185C>T			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P237	ENST00000436291.2	37	c.711	CCDS54275.1	19																																																																																			PSG1	-	NULL		0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	C		Silent	43373185	-1	no_errors	ENST00000312439	ensembl	human	known	70_37	silent	SNP	0.431	T	T	43373185	C	T	43373185	5	4	147	1	0	0	0	0	0	0	1	0	12680	898	31	1	613	1	PSG1	19	43373185	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	552358	43373185	15755798	1042	24296										
XRCC1	7515	genome.wustl.edu	37	chr19	44056964	44056964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcacatttaggtctcttggGaacagatggcgacagctggg	13	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:44056964G>A	ENST00000262887.5	-	8	1355	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.P239S			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	270					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTGGGAACAGATGGC	0.547								Other BER factors																																									0													140	143	142					19																	44056964		2203	4300	6503	SO:0001583	missense	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.808C>T	19.37:g.44056964G>A	ENSP00000262887:p.Pro270Ser		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P270S	ENST00000262887.5	37	c.808	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.341626	0.00222	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.02631	4.25;4.22	4.82	-1.44	0.08856	.	1.450410	0.03847	N	0.271679	T	0.01124	0.0037	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43540	-0.9385	10	0.07990	T	0.79	-0.998	3.0544	0.06180	0.0837:0.2806:0.3476:0.2881	.	239;270	F5H8D7;P18887	.;XRCC1_HUMAN	S	284;270;239;270	ENSP00000262887:P270S;ENSP00000443671:P239S	ENSP00000262887:P270S	P	-	1	0	XRCC1	48748804	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.348000	0.20031	-0.171000	0.10797	-2.070000	0.00385	CCC	XRCC1	-	NULL		0.547	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	G	NM_006297		44056964	-1	no_errors	ENST00000262887	ensembl	human	known	70_37	missense	SNP	0.000	A	A	44056964	G	A	44056964	3	1	147	1	0	0	0	0	1	0	0	0	17483	1174	41	1	1133	1	XRCC1	19	44056964	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	683779	44056964	15072019	1043	24297										
ZNF234	10780	genome.wustl.edu	37	chr19	44661172	44661172	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctcaaaccttcgtatccatCaaagggtccacacaggagag	9	12	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:44661172C>G	ENST00000426739.2	+	6	1261	c.1003C>G	c.(1003-1005)Caa>Gaa	p.Q335E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q335E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCGTATCCATCAAAGGGTCCA	0.438																																																	0													68	75	73					19																	44661172		2183	4297	6480	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1003C>G	19.37:g.44661172C>G	ENSP00000400878:p.Gln335Glu		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q335E	ENST00000426739.2	37	c.1003	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342987	0.41498	.	.	ENSG00000167380	ENST00000426739	T	0.17854	2.25	4.02	-0.959	0.10343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.13352	0.335	0.09310	N	1	P	0.42908	0.793	B	0.33196	0.159	T	0.26155	-1.0111	9	0.51188	T	0.08	.	5.2308	0.15420	0.2819:0.5531:0.0:0.165	.	335	Q14588	ZN234_HUMAN	E	335	ENSP00000400878:Q335E	ENSP00000400878:Q335E	Q	+	1	0	ZNF226	49353012	0.000000	0.05858	0.009000	0.14445	0.983000	0.72400	-0.690000	0.05138	-0.138000	0.11434	0.591000	0.81541	CAA	ZNF234	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	C			44661172	1	no_errors	ENST00000426739	ensembl	human	known	70_37	missense	SNP	0.147	G	G	44661172	C	G	44661172	3	3	147	1	0	0	0	0	1	0	0	0	17817	827	29	1	1017	1	ZNF234	19	44661172	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	604208	44661172	14467811	1044	24298										
ZNF180	7733	genome.wustl.edu	37	chr19	45001414	45001414	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccaggcacagcagggtgctGaggtcctgagctgcactgag	15	11	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:45001414G>A	ENST00000221327.4	-	2	335	c.54C>T	c.(52-54)ctC>ctT	p.L18L	ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000586637.1_5'UTR|ZNF180_ENST00000592529.1_5'UTR|ZNF180_ENST00000587047.1_Missense_Mutation_p.S20L|ZNF180_ENST00000391956.4_Silent_p.L18L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	18					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.L18L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCAGGGTGCTGAGGTCCTGAG	0.632																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												1	Substitution - coding silent(1)	kidney(1)											36	34	34					19																	45001414		2203	4300	6503	SO:0001819	synonymous_variant	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.54C>T	19.37:g.45001414G>A			B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	NULL	p.S20L	ENST00000221327.4	37	c.59	CCDS12639.1	19																																																																																			ZNF180	-	NULL		0.632	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	G	NM_013256		45001414	-1	no_errors	ENST00000590088	ensembl	human	known	70_37	missense	SNP	0.010	A	A	45001414	G	A	45001414	2	1	147	1	0	0	0	0	0	0	0	1	17778	1277	45	1		1	ZNF180	19	45001414	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	340242	45001414	14127569	1045	24299										
FKRP	79147	genome.wustl.edu	37	chr19	47258885	47258885	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcgggagttcgaggcatttGacaacgcggtgcccgagctg	16	10	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:47258885G>C	ENST00000318584.5	+	4	475	c.178G>C	c.(178-180)Gac>Cac	p.D60H	FKRP_ENST00000391909.3_Missense_Mutation_p.D60H|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	60					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAGGCATTTGACAACGCGGT	0.706																																																	0													37	30	32					19																	47258885		2201	4300	6501	SO:0001583	missense	79147			AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.178G>C	19.37:g.47258885G>C	ENSP00000326570:p.Asp60His		A8K5G7	Missense_Mutation	SNP	pfam_LicD	p.D60H	ENST00000318584.5	37	c.178	CCDS12691.1	19	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268325	0.80469	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99567	-6.18;-6.18	4.79	4.79	0.61399	.	0.056531	0.64402	D	0.000002	D	0.98947	0.9642	N	0.22421	0.69	0.58432	D	0.999999	D	0.65815	0.995	P	0.58660	0.843	D	0.99659	1.0993	10	0.87932	D	0	-33.5211	16.7748	0.85548	0.0:0.0:1.0:0.0	.	60	Q9H9S5	FKRP_HUMAN	H	60	ENSP00000375776:D60H;ENSP00000326570:D60H	ENSP00000326570:D60H	D	+	1	0	FKRP	51950725	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.537000	0.73847	2.491000	0.84063	0.555000	0.69702	GAC	FKRP	-	NULL		0.706	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKRP	HGNC	protein_coding	OTTHUMT00000465473.1	G	NM_024301		47258885	1	no_errors	ENST00000318584	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47258885	G	C	47258885	3	2	147	1	0	0	0	0	1	0	0	0	5935	1290	45	1	180	1	FKRP	19	47258885	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2257471	47258885	11870098	1046	24300										
BBC3	27113	genome.wustl.edu	37	chr19	47725144	47725144	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtacaggaccctccagggtGaggggcggtgccgctgctgc	17	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:47725144G>A	ENST00000439096.2	-	4	777	c.497C>T	c.(496-498)tCa>tTa	p.S166L	BBC3_ENST00000341983.4_Missense_Mutation_p.S104L|BBC3_ENST00000449228.1_Silent_p.L200L|BBC3_ENST00000300880.7_Silent_p.L40L	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	166					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		CCTCCAGGGTGAGGGGCGGTG	0.617																																																	0													51	50	50					19																	47725144		2202	4300	6502	SO:0001583	missense	27113			AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.497C>T	19.37:g.47725144G>A	ENSP00000395862:p.Ser166Leu		B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	NULL	p.S166L	ENST00000439096.2	37	c.497	CCDS12697.1	19	.	.	.	.	.	.	.	.	.	.	g	20.9	4.059352	0.76074	.	.	ENSG00000105327	ENST00000439096;ENST00000341983	.	.	.	4.68	4.68	0.58851	.	0.000000	0.35291	N	0.003315	T	0.61590	0.2359	.	.	.	0.21915	N	0.999479	D;P	0.58268	0.982;0.884	D;B	0.63033	0.91;0.382	T	0.54596	-0.8270	7	.	.	.	.	12.9518	0.58405	0.0:0.0:1.0:0.0	.	104;166	Q9BXH1-2;Q9BXH1	.;BBC3_HUMAN	L	166;104	.	.	S	-	2	0	BBC3	52416984	0.999000	0.42202	0.895000	0.35142	0.988000	0.76386	4.422000	0.59854	2.427000	0.82271	0.655000	0.94253	TCA	BBC3	-	NULL		0.617	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BBC3	HGNC	protein_coding	OTTHUMT00000466874.1	G	NM_014417		47725144	-1	no_errors	ENST00000439096	ensembl	human	known	70_37	missense	SNP	0.916	A	A	47725144	G	A	47725144	3	1	147	1	0	0	0	0	1	0	0	0	1334	1294	45	1	189	1	BBC3	19	47725144	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	466259	47725144	11403839	1047	24301										
CCDC9	26093	genome.wustl.edu	37	chr19	47774924	47774924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgggtgaggcctggccttttGagagtgtatgaagctggctg	17	7	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:47774924G>A	ENST00000221922.6	+	12	1807	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	529							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGGCCTTTTGAGAGTGTATG	0.652																																																	0													30	37	35					19																	47774924		2198	4292	6490	SO:0001583	missense	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1585G>A	19.37:g.47774924G>A	ENSP00000221922:p.Glu529Lys			Missense_Mutation	SNP	NULL	p.E529K	ENST00000221922.6	37	c.1585	CCDS12698.1	19	.	.	.	.	.	.	.	.	.	.	.	16.15	3.042914	0.55003	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.22539	1.95	3.46	3.46	0.39613	.	0.840622	0.10295	N	0.691834	T	0.15478	0.0373	N	0.22421	0.69	0.25657	N	0.986043	B	0.22146	0.065	B	0.21546	0.035	T	0.11179	-1.0598	10	0.22109	T	0.4	-2.6511	12.847	0.57835	0.0:0.0:1.0:0.0	.	529	Q9Y3X0	CCDC9_HUMAN	K	529;511	ENSP00000221922:E529K	ENSP00000221922:E529K	E	+	1	0	CCDC9	52466764	0.305000	0.24481	0.419000	0.26584	0.132000	0.20833	3.018000	0.49625	2.235000	0.73313	0.297000	0.19635	GAG	CCDC9	-	NULL		0.652	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC9	HGNC	protein_coding	OTTHUMT00000466917.1	G	NM_015603		47774924	1	no_errors	ENST00000221922	ensembl	human	known	70_37	missense	SNP	0.879	A	A	47774924	G	A	47774924	3	1	147	1	0	0	0	0	1	0	0	0	2872	1291	45	1	1627	1	CCDC9	19	47774924	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	49780	47774924	11354059	1048	24302										
ZNF114	163071	genome.wustl.edu	37	chr19	48789654	48789654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcagtgcgagaacacctccaGaaataactcaattcacgcca	6	13	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:48789654G>A	ENST00000595607.1	+	6	1267	c.773G>A	c.(772-774)aGa>aAa	p.R258K	ZNF114_ENST00000597695.1_Missense_Mutation_p.R224K|ZNF114_ENST00000315849.1_Missense_Mutation_p.R258K|ZNF114_ENST00000600687.1_Missense_Mutation_p.R258K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AACACCTCCAGAAATAACTCA	0.463																																																	0													93	86	89					19																	48789654		2203	4300	6503	SO:0001583	missense	163071			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.773G>A	19.37:g.48789654G>A	ENSP00000469998:p.Arg258Lys		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R258K	ENST00000595607.1	37	c.773	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050309	0.01981	.	.	ENSG00000178150	ENST00000315849	T	0.04603	3.59	2.07	-1.96	0.07525	.	.	.	.	.	T	0.02649	0.0080	N	0.20986	0.625	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.48917	-0.8992	9	0.11485	T	0.65	.	4.6563	0.12618	0.1845:0.0:0.5931:0.2224	.	258	Q8NC26	ZN114_HUMAN	K	258	ENSP00000318898:R258K	ENSP00000318898:R258K	R	+	2	0	ZNF114	53481466	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-1.077000	0.03416	-0.459000	0.07013	0.467000	0.42956	AGA	ZNF114	-	NULL		0.463	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	G	NM_153608		48789654	1	no_errors	ENST00000315849	ensembl	human	known	70_37	missense	SNP	0.000	A	A	48789654	G	A	48789654	3	1	147	1	0	0	0	0	1	0	0	0	17746	942	33	1	783	1	ZNF114	19	48789654	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1014730	48789654	10339329	1049	24303										
ZNF114	163071	genome.wustl.edu	37	chr19	48789971	48789971	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agaagaagccctacgaatgtGaagaatgtgggaaagtcatt	12	5	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:48789971G>A	ENST00000595607.1	+	6	1584	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	ZNF114_ENST00000597695.1_Missense_Mutation_p.E330K|ZNF114_ENST00000315849.1_Missense_Mutation_p.E364K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E364K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CTACGAATGTGAAGAATGTGG	0.388																																																	0													115	115	115					19																	48789971		2203	4300	6503	SO:0001583	missense	163071			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.1090G>A	19.37:g.48789971G>A	ENSP00000469998:p.Glu364Lys		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E364K	ENST00000595607.1	37	c.1090	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067171	0.01934	.	.	ENSG00000178150	ENST00000315849	T	0.16597	2.33	2.49	-4.97	0.03029	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	N	0.11651	0.15	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.29243	-1.0018	9	0.02654	T	1	.	7.5714	0.27909	0.2245:0.4608:0.3147:0.0	.	364	Q8NC26	ZN114_HUMAN	K	364	ENSP00000318898:E364K	ENSP00000318898:E364K	E	+	1	0	ZNF114	53481783	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-3.225000	0.00550	-3.366000	0.00178	-0.474000	0.04947	GAA	ZNF114	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	G	NM_153608		48789971	1	no_errors	ENST00000315849	ensembl	human	known	70_37	missense	SNP	0.003	A	A	48789971	G	A	48789971	3	1	147	1	0	0	0	0	1	0	0	0	17746	1291	45	1	1100	1	ZNF114	19	48789971	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	317	48789971	10339012	1050	24304										
KCNJ14	3770	genome.wustl.edu	37	chr19	48965260	48965260	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cgctggatgtgcctgctcttCtcctgctccttcctcgcctc	8	18	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:48965260C>G	ENST00000391884.1	+	1	755	c.279C>G	c.(277-279)ttC>ttG	p.F93L	KCNJ14_ENST00000342291.2_Missense_Mutation_p.F93L			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	93					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GCCTGCTCTTCTCCTGCTCCT	0.687																																					NSCLC(148;170 3504 35216)												0													74	42	52					19																	48965260		2203	4300	6503	SO:0001583	missense	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.279C>G	19.37:g.48965260C>G	ENSP00000375756:p.Phe93Leu			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.F93L	ENST00000391884.1	37	c.279	CCDS12721.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713476	0.89112	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.96587	-4.06;-4.06	4.45	4.45	0.53987	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.113882	0.64402	D	0.000012	D	0.98501	0.9500	M	0.93241	3.395	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99577	1.0972	10	0.87932	D	0	.	14.9811	0.71311	0.0:1.0:0.0:0.0	.	93	Q9UNX9	IRK14_HUMAN	L	93	ENSP00000341479:F93L;ENSP00000375756:F93L	ENSP00000341479:F93L	F	+	3	2	KCNJ14	53657072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.886000	0.63149	2.205000	0.71048	0.591000	0.81541	TTC	KCNJ14	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48965260	1	no_errors	ENST00000342291	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48965260	C	G	48965260	3	3	147	1	0	0	0	0	1	0	0	0	8068	912	32	1	281	1	KCNJ14	19	48965260	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	175289	48965260	10163723	1051	24305										
NUP62	23636	genome.wustl.edu	37	chr19	50412866	50412866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcctgtcgtctgtgtggccgGagtctgggtggcaagtgaga	18	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:50412866G>C	ENST00000596217.1	-	2	2086	c.199C>G	c.(199-201)Ccg>Gcg	p.P67A	NUP62_ENST00000597029.1_Missense_Mutation_p.P67A|NUP62_ENST00000597723.1_Missense_Mutation_p.P67A|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Missense_Mutation_p.P67A|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.P67A|NUP62_ENST00000413454.1_Missense_Mutation_p.P67A|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	67	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGTGTGGCCGGAGTCTGGGTG	0.547																																																	0													151	154	153					19																	50412866		2203	4300	6503	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.199C>G	19.37:g.50412866G>C	ENSP00000471191:p.Pro67Ala		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.P67A	ENST00000596217.1	37	c.199	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	6.975	0.549837	0.13374	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37584	1.19;1.19;1.19	4.26	3.2	0.36748	Nucleoporin, NSP1-like, C-terminal (1);	0.403038	0.21678	U	0.070777	T	0.22437	0.0541	N	0.24115	0.695	0.21355	N	0.999717	B;B	0.21520	0.053;0.057	B;B	0.17722	0.019;0.008	T	0.12993	-1.0526	10	0.37606	T	0.19	-4.6212	8.5664	0.33543	0.1053:0.0:0.8947:0.0	.	67;67	Q8WYU3;P37198	.;NUP62_HUMAN	A	67	ENSP00000305503:P67A;ENSP00000407331:P67A;ENSP00000387991:P67A	ENSP00000321866:P67A	P	-	1	0	NUP62	55104678	0.001000	0.12720	0.017000	0.16124	0.021000	0.10359	0.457000	0.21875	1.355000	0.45865	0.655000	0.94253	CCG	NUP62	-	NULL		0.547	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	G	NM_153719		50412866	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	0.045	C	C	50412866	G	C	50412866	3	2	147	1	0	0	0	0	1	0	0	0	10792	1174	41	1	1373	1	NUP62	19	50412866	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1447606	50412866	8716117	1052	24306										
MYBPC2	4606	genome.wustl.edu	37	chr19	50965290	50965290	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgctgtcagaggccacccGaaggtgccagggcagggacc	16	12	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:50965290G>A	ENST00000357701.5	+	26	3276	c.3225G>A	c.(3223-3225)ccG>ccA	p.P1075P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1075	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGGCCACCCGAAGGTGCCAG	0.592																																																	0													24	25	24					19																	50965290		2040	4184	6224	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.3225G>A	19.37:g.50965290G>A			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1075	ENST00000357701.5	37	c.3225	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	G	NM_004533		50965290	1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.005	A	A	50965290	G	A	50965290	2	1	147	1	0	0	0	0	0	0	0	1	10035	1045	37	1		1	MYBPC2	19	50965290	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	552424	50965290	8163693	1053	24307										
ZNF613	79898	genome.wustl.edu	37	chr19	52443915	52443915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actcttcaagttggaacaagGagagccatggacagtagaaa	11	7	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:52443915G>A	ENST00000293471.6	+	5	867	c.188G>A	c.(187-189)gGa>gAa	p.G63E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G27E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TTGGAACAAGGAGAGCCATGG	0.463																																																	0													145	122	130					19																	52443915		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.188G>A	19.37:g.52443915G>A	ENSP00000293471:p.Gly63Glu		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G63E	ENST00000293471.6	37	c.188	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.482536	0.01027	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.00892	5.57;5.57	2.78	2.78	0.32641	Krueppel-associated box (3);	0.249758	0.21067	N	0.080738	T	0.01287	0.0042	M	0.62266	1.93	0.09310	N	1	B	0.18310	0.027	B	0.15052	0.012	T	0.42666	-0.9438	10	0.21014	T	0.42	.	9.2497	0.37547	0.0:0.0:1.0:0.0	.	63	Q6PF04	ZN613_HUMAN	E	63;27	ENSP00000293471:G63E;ENSP00000375671:G27E	ENSP00000293471:G63E	G	+	2	0	ZNF613	57135727	0.846000	0.29590	0.052000	0.19188	0.158000	0.22134	0.907000	0.28531	1.870000	0.54199	0.563000	0.77884	GGA	ZNF613	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.463	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52443915	1	no_errors	ENST00000293471	ensembl	human	known	70_37	missense	SNP	0.062	A	A	52443915	G	A	52443915	3	1	147	1	0	0	0	0	1	0	0	0	18068	1174	41	1	198	1	ZNF613	19	52443915	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1478625	52443915	6685068	1054	24308										
ZNF765	91661	genome.wustl.edu	37	chr19	53911453	53911453	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catatgagggaaaaatctttCcaatgcaatgacagtggcaa	9	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:53911453C>T	ENST00000396408.3	+	4	762	c.645C>T	c.(643-645)ttC>ttT	p.F215F	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AAAAATCTTTCCAATGCAATG	0.343																																																	0													68	69	68					19																	53911453		2187	4288	6475	SO:0001819	synonymous_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.645C>T	19.37:g.53911453C>T			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F215	ENST00000396408.3	37	c.645	CCDS46171.1	19																																																																																			ZNF765	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	C	NM_138372		53911453	1	no_errors	ENST00000396408	ensembl	human	known	70_37	silent	SNP	0.000	T	T	53911453	C	T	53911453	2	4	147	1	0	0	0	0	0	0	0	1	18169	854	30	1		1	ZNF765	19	53911453	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1467538	53911453	5217530	1055	24309										
NLRP12	91662	genome.wustl.edu	37	chr19	54313719	54313719	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agggggacgaagcacatggtGaagagaggctcgttgtccct	16	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:54313719G>A	ENST00000324134.6	-	3	1362	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	NLRP12_ENST00000535162.1_Silent_p.F398F|NLRP12_ENST00000391773.1_Silent_p.F398F|NLRP12_ENST00000351894.4_Silent_p.F398F|NLRP12_ENST00000354278.3_Silent_p.F398F|NLRP12_ENST00000345770.5_Silent_p.F398F|NLRP12_ENST00000391775.3_Silent_p.F398F|NLRP12_ENST00000391772.1_Silent_p.F398F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACATGGTGAAGAGAGGCT	0.562																																																	0													178	171	173					19																	54313719		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1194C>T	19.37:g.54313719G>A			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F398	ENST00000324134.6	37	c.1194	CCDS12864.1	19																																																																																			NLRP12	-	pfscan_NACHT_NTPase		0.562	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54313719	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54313719	G	A	54313719	2	1	147	1	0	0	0	0	0	0	0	1	10498	1281	45	1		1	NLRP12	19	54313719	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	402266	54313719	4815264	1056	24310										
MBOAT7	79143	genome.wustl.edu	37	chr19	54677796	54677796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gctgggatgctgccttccgcCggctggggctgcccccacct	14	17	0	0	rs548203729	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:54677796C>T	ENST00000245615.1	-	8	1841	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R381Q|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R381Q	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	454					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGCCTTCCGCCGGCTGGGGCT	0.657																																					NSCLC(97;826 2151 10470 22540)												0													22	24	23					19																	54677796		2203	4298	6501	SO:0001583	missense	79143			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1361G>A	19.37:g.54677796C>T	ENSP00000245615:p.Arg454Gln		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R454Q	ENST00000245615.1	37	c.1361	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	c	13.01	2.108760	0.37242	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.18502	2.21;2.21;2.24	4.79	2.64	0.31445	.	0.511841	0.14279	U	0.329638	T	0.12518	0.0304	L	0.36672	1.1	0.19575	N	0.999964	B;B;B	0.14805	0.002;0.011;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.24368	-1.0162	10	0.34782	T	0.22	-17.9345	6.9309	0.24442	0.0:0.709:0.0:0.291	.	436;381;454	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	Q	381;381;454	ENSP00000410503:R381Q;ENSP00000344377:R381Q;ENSP00000245615:R454Q	ENSP00000245615:R454Q	R	-	2	0	MBOAT7	59369608	0.496000	0.26059	0.956000	0.39512	0.895000	0.52256	0.734000	0.26101	0.539000	0.28788	0.480000	0.44947	CGG	MBOAT7	-	NULL		0.657	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	C	NM_024298		54677796	-1	no_errors	ENST00000245615	ensembl	human	known	70_37	missense	SNP	0.587	T	T	54677796	C	T	54677796	3	4	147	1	0	0	0	0	1	0	0	0	9381	652	23	2	61	2	MBOAT7	19	54677796	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	364077	54677796	4451187	1057	24311										
NLRP5	126206	genome.wustl.edu	37	chr19	56539277	56539277	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcaaggactcggggagtctGagctccgtgctctgtttcac	12	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56539277G>T	ENST00000390649.3	+	7	1678	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	560	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGGGGAGTCTGAGCTCCGTGC	0.547																																																	0													57	61	60					19																	56539277		2116	4238	6354	SO:0001587	stop_gained	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1678G>T	19.37:g.56539277G>T	ENSP00000375063:p.Glu560*		A8MTY4|Q86W29	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E560*	ENST00000390649.3	37	c.1678	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172223	0.78452	.	.	ENSG00000171487	ENST00000390649	.	.	.	2.97	1.93	0.25924	.	0.000000	0.37437	N	0.002098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.9285	0.19126	0.1451:0.0:0.8549:0.0	.	.	.	.	X	560	.	ENSP00000375063:E560X	E	+	1	0	NLRP5	61231089	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.088000	0.11198	0.822000	0.34565	0.555000	0.69702	GAG	NLRP5	-	NULL		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	G	NM_153447		56539277	1	no_errors	ENST00000390649	ensembl	human	known	70_37	nonsense	SNP	0.002	T	T	56539277	G	T	56539277	4	4	147	1	0	0	0	0	0	1	0	0	10504	1291	45	3	1704	3	NLRP5	19	56539277	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1861481	56539277	2589706	1058	24312										
ZNF583	147949	genome.wustl.edu	37	chr19	56935048	56935048	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtaatggttcatttcttgctCagcatcagagaattcataca	7	8	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56935048C>T	ENST00000333201.9	+	5	1231	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.Q341*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATTTCTTGCTCAGCATCAGAG	0.413																																																	0													122	129	127					19																	56935048		2203	4300	6503	SO:0001587	stop_gained	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1021C>T	19.37:g.56935048C>T	ENSP00000388502:p.Gln341*		O14850|Q2NKK3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q341*	ENST00000333201.9	37	c.1021	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037354	0.93630	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	.	.	.	4.33	2.11	0.27256	.	0.000000	0.42053	D	0.000762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4276	0.27109	0.2855:0.419:0.2955:0.0	.	.	.	.	X	341	.	.	Q	+	1	0	ZNF583	61626860	0.000000	0.05858	0.032000	0.17829	0.996000	0.88848	-6.574000	0.00061	0.548000	0.28955	0.462000	0.41574	CAG	ZNF583	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	C	NM_152478		56935048	1	no_errors	ENST00000291598	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	56935048	C	T	56935048	4	4	147	1	0	0	0	0	0	1	0	0	18045	827	29	1	1035	1	ZNF583	19	56935048	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	395771	56935048	2193935	1059	24313										
ZNF667	63934	genome.wustl.edu	37	chr19	56953219	56953219	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcatctgtatagtttttctCcattatgaattcttagatgc	6	7	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56953219C>G	ENST00000504904.3	-	7	1864	c.1145G>C	c.(1144-1146)gGa>gCa	p.G382A	ZNF667_ENST00000292069.6_Missense_Mutation_p.G382A|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G510A			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TAGTTTTTCTCCATTATGAAT	0.353																																																	0													66	72	70					19																	56953219		2202	4299	6501	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1145G>C	19.37:g.56953219C>G	ENSP00000439402:p.Gly382Ala		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G510A	ENST00000504904.3	37	c.1529	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143581	0.09134	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.53640	0.61;1.74;1.74	4.94	3.91	0.45181	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.593231	0.14037	N	0.345694	T	0.54431	0.1858	M	0.75085	2.285	0.09310	N	1	P;P	0.43392	0.805;0.698	P;B	0.45753	0.492;0.371	T	0.51220	-0.8733	10	0.87932	D	0	-0.9845	11.0897	0.48108	0.0:0.9098:0.0:0.0902	.	510;382	E7EPS0;Q5HYK9	.;ZN667_HUMAN	A	510;382;382;164	ENSP00000344699:G510A;ENSP00000439402:G382A;ENSP00000292069:G382A	ENSP00000292069:G382A	G	-	2	0	ZNF667	61645031	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.792000	0.26929	1.301000	0.44836	0.591000	0.81541	GGA	ZNF667	-	pfscan_Znf_C2H2		0.353	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	C	NM_022103		56953219	-1	no_errors	ENST00000342634	ensembl	human	known	70_37	missense	SNP	0.011	G	G	56953219	C	G	56953219	3	3	147	1	0	0	0	0	1	0	0	0	18104	855	30	1	691	1	ZNF667	19	56953219	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	18171	56953219	2175764	1060	24314										
ZNF211	10520	genome.wustl.edu	37	chr19	58152132	58152132	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acagagaatttctggagaaaGagtgccacagttcaggactt	11	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58152132G>C	ENST00000347302.3	+	3	457	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF211_ENST00000240731.4_Missense_Mutation_p.R106T|ZNF211_ENST00000544273.1_Missense_Mutation_p.R105T|ZNF211_ENST00000254182.7_Missense_Mutation_p.R84T|ZNF211_ENST00000541801.1_Missense_Mutation_p.R84T|ZNF211_ENST00000420680.1_Missense_Mutation_p.R97T|ZNF211_ENST00000299871.5_Missense_Mutation_p.R158T|ZNF211_ENST00000391703.3_Missense_Mutation_p.R32T	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTGGAGAAAGAGTGCCACAG	0.428																																																	0													98	99	99					19																	58152132		2203	4300	6503	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.278G>C	19.37:g.58152132G>C	ENSP00000339562:p.Arg93Thr		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R106T	ENST00000347302.3	37	c.317	CCDS12957.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.325|8.325	0.825176|0.825176	0.16749|0.16749	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.08102	.|3.24;3.27;3.13;3.17;3.13;3.26;3.26;3.26	3.72|3.72	0.265|0.265	0.15612|0.15612	.|Krueppel-associated box (1);	.|.	.|.	.|.	.|.	T|T	0.05227|0.05227	0.0139|0.0139	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B;B	.|0.45827	.|0.104;0.039;0.027;0.867;0.009;0.005	.|B;B;B;P;B;B	.|0.47645	.|0.031;0.032;0.047;0.553;0.009;0.014	T|T	0.24333|0.24333	-1.0163|-1.0163	5|9	.|0.08837	.|T	.|0.75	.|.	4.8195|4.8195	0.13383|0.13383	0.2139:0.1792:0.6069:0.0|0.2139:0.1792:0.6069:0.0	.|.	.|97;105;158;84;93;106	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	N|T	96|97;93;84;32;84;158;105;106	.|ENSP00000399193:R97T;ENSP00000339562:R93T;ENSP00000254182:R84T;ENSP00000375584:R32T;ENSP00000442601:R84T;ENSP00000299871:R158T;ENSP00000441386:R105T;ENSP00000240731:R106T	.|ENSP00000240731:R106T	K|R	+|+	3|2	2|0	ZNF211|ZNF211	62843944|62843944	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.070000|0.070000	0.16714|0.16714	0.245000|0.245000	0.18142|0.18142	-0.027000|-0.027000	0.13873|0.13873	0.591000|0.591000	0.81541|0.81541	AAG|AGA	ZNF211	-	pfscan_Krueppel-associated_box		0.428	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	G			58152132	1	no_errors	ENST00000240731	ensembl	human	known	70_37	missense	SNP	0.001	C	C	58152132	G	C	58152132	3	2	147	1	0	0	0	0	1	0	0	0	17797	942	33	1	331	1	ZNF211	19	58152132	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1198913	58152132	976851	1061	24315										
ZNF551	90233	genome.wustl.edu	37	chr19	58197986	58197986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtgtgtcccagtcttgaaaGacattttgcctgcggctgag	12	9	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58197986G>C	ENST00000282296.5	+	3	528	c.343G>C	c.(343-345)Gac>Cac	p.D115H	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.D99H|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTTGAAAGACATTTTGCC	0.483																																																	0													129	125	127					19																	58197986		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.343G>C	19.37:g.58197986G>C	ENSP00000282296:p.Asp115His		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D115H	ENST00000282296.5	37	c.343	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841342	0.32513	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	T	0.49795	0.1578	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.23013	-1.0200	8	0.40728	T	0.16	.	5.9499	0.19239	0.0:0.0:0.6909:0.3091	.	115	Q7Z340	ZN551_HUMAN	H	115;99	.	ENSP00000282296:D99H	D	+	1	0	ZNF551	62889798	0.230000	0.23740	0.005000	0.12908	0.007000	0.05969	3.101000	0.50283	1.472000	0.48140	0.555000	0.69702	GAC	ZNF551	-	NULL		0.483	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	G	NM_138347		58197986	1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.002	C	C	58197986	G	C	58197986	3	2	147	1	0	0	0	0	1	0	0	0	18013	942	33	1	305	1	ZNF551	19	58197986	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	45854	58197986	930997	1062	24316										
ZNF551	90233	genome.wustl.edu	37	chr19	58198826	58198826	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaggccttatcagtgctgtGagtgtgggaaatcctttaga	12	6	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58198826G>C	ENST00000282296.5	+	3	1368	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E379Q|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAGTGCTGTGAGTGTGGGAA	0.438																																																	0													89	93	91					19																	58198826		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1183G>C	19.37:g.58198826G>C	ENSP00000282296:p.Glu395Gln		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E395Q	ENST00000282296.5	37	c.1183	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	8.723	0.914773	0.17907	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.44	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32436	0.0829	N	0.20574	0.59	0.09310	N	1	D	0.57571	0.98	P	0.57101	0.813	T	0.25257	-1.0137	8	0.46703	T	0.11	.	7.022	0.24920	0.1135:0.5169:0.3696:0.0	.	395	Q7Z340	ZN551_HUMAN	Q	395;379;178	.	ENSP00000282296:E379Q	E	+	1	0	ZNF551	62890638	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.103000	0.10940	-0.391000	0.07763	-0.304000	0.09214	GAG	ZNF551	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	G	NM_138347		58198826	1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.001	C	C	58198826	G	C	58198826	3	2	147	1	0	0	0	0	1	0	0	0	18013	1291	45	1	1145	1	ZNF551	19	58198826	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	840	58198826	930157	1063	24317										
ZNF586	54807	genome.wustl.edu	37	chr19	58290285	58290285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actgaacccagaagagatcaCaaacacaggaatgttcgcac	8	11	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58290285C>T	ENST00000396154.2	+	3	503	c.330C>T	c.(328-330)caC>caT	p.H110H	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.T68I|ZNF586_ENST00000391702.3_Silent_p.H67H	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGAGATCACAAACACAGGA	0.423																																																	0													77	77	77					19																	58290285		2051	4246	6297	SO:0001819	synonymous_variant	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.330C>T	19.37:g.58290285C>T			A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	NULL	p.T68I	ENST00000396154.2	37	c.203	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298090	0.01364	.	.	ENSG00000083828	ENST00000396150	T	0.32515	1.45	0.861	-0.299	0.12808	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.20926	N	0.999827	B	0.18166	0.026	B	0.20384	0.029	T	0.32534	-0.9903	8	0.17832	T	0.49	.	3.1886	0.06609	0.0:0.6676:0.0:0.3324	.	68	A0JLV8	.	I	68	ENSP00000379454:T68I	ENSP00000379454:T68I	T	+	2	0	ZNF586	62982097	0.000000	0.05858	0.045000	0.18777	0.074000	0.17049	-3.449000	0.00467	-0.072000	0.12864	0.467000	0.42956	ACA	ZNF586	-	NULL		0.423	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	C	NM_017652		58290285	1	no_errors	ENST00000396150	ensembl	human	known	70_37	missense	SNP	0.262	T	T	58290285	C	T	58290285	2	4	147	1	0	0	0	0	0	0	0	1	18049	477	17	4		4	ZNF586	19	58290285	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	91459	58290285	838698	1064	24318										
ZNF586	54807	genome.wustl.edu	37	chr19	58290446	58290446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcatttcaccaaagctcttCactcttgcagcgtcagacac	5	14	6	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58290446C>T	ENST00000396154.2	+	3	664	c.491C>T	c.(490-492)tCa>tTa	p.S164L	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.H122Y|ZNF586_ENST00000391702.3_Missense_Mutation_p.S121L	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGCTCTTCACTCTTGCAG	0.428																																																	0													88	88	88					19																	58290446		2090	4251	6341	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.491C>T	19.37:g.58290446C>T	ENSP00000379458:p.Ser164Leu		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S164L	ENST00000396154.2	37	c.491	CCDS42640.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.351914|1.351914	0.24512|0.24512	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000396150|ENST00000449441;ENST00000391702;ENST00000396154	T|T;T	0.05199|0.15487	3.48|2.42;2.42	1.65|1.65	-3.31|-3.31	0.04988|0.04988	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.31578|0.31578	0.945|0.945	0.09310|0.09310	N|N	1|1	B|P	0.18863|0.43392	0.031|0.805	B|P	0.15484|0.44732	0.013|0.459	T|T	0.13019|0.13019	-1.0525|-1.0525	9|9	0.15952|0.41790	T|T	0.53|0.15	.|.	5.9835|5.9835	0.19421|0.19421	0.3107:0.2251:0.4642:0.0|0.3107:0.2251:0.4642:0.0	.|.	122|164	A0JLV8|Q9NXT0	.|ZN586_HUMAN	Y|L	122|164;121;164	ENSP00000379454:H122Y|ENSP00000375583:S121L;ENSP00000379458:S164L	ENSP00000379454:H122Y|ENSP00000375583:S121L	H|S	+|+	1|2	0|0	ZNF586|ZNF586	62982258|62982258	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-10.192000|-10.192000	0.00007|0.00007	-1.202000|-1.202000	0.02655|0.02655	-0.165000|-0.165000	0.13383|0.13383	CAC|TCA	ZNF586	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	C	NM_017652		58290446	1	no_errors	ENST00000396154	ensembl	human	known	70_37	missense	SNP	0.000	T	T	58290446	C	T	58290446	3	4	147	1	0	0	0	0	1	0	0	0	18049	838	29	1	501	1	ZNF586	19	58290446	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	161	58290446	838537	1065	24319										
ZSCAN18	65982	genome.wustl.edu	37	chr19	58601751	58601751	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtggtgccagaacccacaGacctgcagaggacacggaca	13	12	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58601751G>A	ENST00000240727.6	-	0	283				ZSCAN18_ENST00000601144.1_5'UTR|ZSCAN18_ENST00000600404.1_Silent_p.L18L|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAACCCACAGACCTGCAGAG	0.587																																																	0													24	28	26					19																	58601751		692	1591	2283	SO:0001623	5_prime_UTR_variant	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.-117C>T	19.37:g.58601751G>A			B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L18	ENST00000240727.6	37	c.52	CCDS12971.1	19																																																																																			ZSCAN18	-	NULL		0.587	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	G	NM_023926		58601751	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	silent	SNP	0.017	A	A	58601751	G	A	58601751	1	1	147	0	1	0	0	0	0	0	0	0	18260	933	33	1		1	ZSCAN18	19	58601751	5'UTR	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	311305	58601751	527232	1066	24320										
ZNF8	7554	genome.wustl.edu	37	chr19	58806708	58806708	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctcgagcaggaactcacacCtggttcagcatcaacacccg	8	16	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58806708C>G	ENST00000196548.5	+	4	1665	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	ZNF8_ENST00000608843.1_Missense_Mutation_p.L512V|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	512					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAACTCACACCTGGTTCAGCA	0.582																																																	0													89	97	94					19																	58806708		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1534C>G	19.37:g.58806708C>G	ENSP00000196548:p.Leu512Val		Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L512V	ENST00000196548.5	37	c.1534	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321708	0.23994	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.06218	3.33	3.54	2.48	0.30137	.	0.236253	0.22093	N	0.064733	T	0.04634	0.0126	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.35871	-0.9771	10	0.87932	D	0	-4.1235	11.2455	0.48993	0.0:0.8127:0.1873:0.0	.	512	P17098	ZNF8_HUMAN	V	512;227	ENSP00000196548:L512V	ENSP00000196548:L512V	L	+	1	2	ZNF8	63498520	.	.	0.001000	0.08648	0.021000	0.10359	.	.	1.049000	0.40321	0.549000	0.68633	CTG	ZNF8	-	NULL		0.582	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	C	NM_021089		58806708	1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.001	G	G	58806708	C	G	58806708	3	3	147	1	0	0	0	0	1	0	0	0	18197	680	24	4	1548	4	ZNF8	19	58806708	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	204957	58806708	322275	1067	24321										
TRIM28	10155	genome.wustl.edu	37	chr19	59061167	59061167	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaggaggaggatggcagcctCagcctggatggtgcagacag	17	8	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:59061167C>T	ENST00000253024.5	+	14	2335	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	TRIM28_ENST00000341753.6_Silent_p.L600L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	682					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCAGCCTCAGCCTGGATG	0.602																																																	0													94	87	89					19																	59061167		2203	4300	6503	SO:0001819	synonymous_variant	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2046C>T	19.37:g.59061167C>T			O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L682	ENST00000253024.5	37	c.2046	CCDS12985.1	19																																																																																			TRIM28	-	NULL		0.602	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	C	NM_005762		59061167	1	no_errors	ENST00000253024	ensembl	human	known	70_37	silent	SNP	0.418	T	T	59061167	C	T	59061167	2	4	147	1	0	0	0	0	0	0	0	1	16533	813	29	1		1	TRIM28	19	59061167	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	254459	59061167	67816	1068	24322										
C20orf54	113278	genome.wustl.edu	37	chr20	741808	741808	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cacaagagggcgctgcggctGaggtcgcgcaggaccacgcc	16	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:741808G>C	ENST00000217254.7	-	5	1513	c.1272C>G	c.(1270-1272)ctC>ctG	p.L424L	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_3'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	424					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CGCTGCGGCTGAGGTCGCGCA	0.682																																																	0													10	11	10					20																	741808		2164	4254	6418	SO:0001819	synonymous_variant	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.1272C>G	20.37:g.741808G>C			A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	pfam_Endogenous_retrovirus_rcpt	p.L424	ENST00000217254.7	37	c.1272	CCDS13007.1	20																																																																																			SLC52A3	-	NULL		0.682	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	G	NM_033409		741808	-1	no_errors	ENST00000217254	ensembl	human	known	70_37	silent	SNP	0.000	C	C	741808	G	C	741808	2	2	147	1	0	0	0	0	0	0	0	1	2119	1277	45	1		1	C20orf54	20	741808	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		741808	62283712	1069	24323										
STK35	140901	genome.wustl.edu	37	chr20	2097345	2097345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggttatgctgaggagccctGctatctctggtttgtcatgg	14	8	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:2097345G>A	ENST00000381482.3	+	3	1197	c.926G>A	c.(925-927)tGc>tAc	p.C309Y	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.C176Y			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GAGGAGCCCTGCTATCTCTGG	0.473																																																	0													192	182	185					20																	2097345		2203	4300	6503	SO:0001583	missense	140901			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.926G>A	20.37:g.2097345G>A	ENSP00000370891:p.Cys309Tyr		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	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.C309Y	ENST00000381482.3	37	c.926	CCDS13024.2	20	.	.	.	.	.	.	.	.	.	.	G	2.401	-0.337535	0.05278	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	T;T	0.64803	-0.12;-0.12	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.13299	0.325	0.80722	D	1	B	0.18013	0.025	B	0.30401	0.115	T	0.41142	-0.9525	10	0.29301	T	0.29	-14.3249	16.4822	0.84160	0.0:0.0:1.0:0.0	.	309	Q8TDR2	STK35_HUMAN	Y	309;176	ENSP00000370891:C309Y;ENSP00000246032:C176Y	ENSP00000246032:C176Y	C	+	2	0	STK35	2045345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.860000	0.86993	2.752000	0.94435	0.655000	0.94253	TGC	STK35	-	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		0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK35	HGNC	protein_coding	OTTHUMT00000077574.3	G	NM_080836		2097345	1	no_errors	ENST00000381482	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2097345	G	A	2097345	3	1	147	1	0	0	0	0	1	0	0	0	15331	1319	46	4	936	4	STK35	20	2097345	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1355537	2097345	60928175	1070	24324										
CPXM1	56265	genome.wustl.edu	37	chr20	2777944	2777944	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccacctggggctccggcagGaggttcagcactggagtttc	15	12	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:2777944G>T	ENST00000380605.2	-	6	790	c.726C>A	c.(724-726)ctC>ctA	p.L242L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	242	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTCCGGCAGGAGGTTCAGCA	0.647																																																	0													28	35	33					20																	2777944		2200	4297	6497	SO:0001819	synonymous_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.726C>A	20.37:g.2777944G>T			Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L242	ENST00000380605.2	37	c.726	CCDS13033.1	20																																																																																			CPXM1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.647	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	G	NM_019609		2777944	-1	no_errors	ENST00000380605	ensembl	human	known	70_37	silent	SNP	0.914	T	T	2777944	G	T	2777944	2	4	147	1	0	0	0	0	0	0	0	1	3842	1161	41	3		3	CPXM1	20	2777944	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	680599	2777944	60247576	1071	24325										
C20orf194	25943	genome.wustl.edu	37	chr20	3233280	3233280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagctcctggttatacttctCaatttcccggttggcttctt	7	12	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:3233280C>G	ENST00000252032.9	-	37	3539	c.3472G>C	c.(3472-3474)Gag>Cag	p.E1158Q	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1158										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTATACTTCTCAATTTCCCGG	0.522																																																	0													242	239	240					20																	3233280		1962	4140	6102	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3472G>C	20.37:g.3233280C>G	ENSP00000252032:p.Glu1158Gln		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.E1158Q	ENST00000252032.9	37	c.3472	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460665	0.84317	.	.	ENSG00000088854	ENST00000252032	T	0.22134	1.97	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	T	0.35076	-0.9803	10	0.66056	D	0.02	.	20.0435	0.97601	0.0:1.0:0.0:0.0	.	897;1158	Q0IIP3;Q5TEA3	.;CT194_HUMAN	Q	1158	ENSP00000252032:E1158Q	ENSP00000252032:E1158Q	E	-	1	0	C20orf194	3181280	1.000000	0.71417	0.986000	0.45419	0.736000	0.42039	6.238000	0.72350	2.731000	0.93534	0.650000	0.86243	GAG	C20orf194	-	NULL		0.522	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	C	NM_001009984		3233280	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	0.997	G	G	3233280	C	G	3233280	3	3	147	1	0	0	0	0	1	0	0	0	2104	835	29	1	65	1	C20orf194	20	3233280	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	455336	3233280	59792240	1072	24326										
SMOX	54498	genome.wustl.edu	37	chr20	4163254	4163254	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggaattcgaggagcccttCtggggccctgagtgcaacag	14	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:4163254C>T	ENST00000305958.4	+	5	1353	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	SMOX_ENST00000339123.6_Silent_p.F323F|SMOX_ENST00000379460.2_Silent_p.F376F|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Silent_p.F323F	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	376					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGAGCCCTTCTGGGGCCCTG	0.602																																																	0													85	85	85					20																	4163254		2203	4300	6503	SO:0001819	synonymous_variant	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1128C>T	20.37:g.4163254C>T			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.F376	ENST00000305958.4	37	c.1128	CCDS13075.1	20																																																																																			SMOX	-	pfam_Amino_oxidase		0.602	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	C	NM_175842		4163254	1	no_errors	ENST00000305958	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4163254	C	T	4163254	2	4	147	1	0	0	0	0	0	0	0	1	14833	912	32	1		1	SMOX	20	4163254	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	929974	4163254	58862266	1073	24327										
PLCB1	23236	genome.wustl.edu	37	chr20	8665705	8665705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcactatttcattaattcctCgcacaacacctacctcacag	2	15	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:8665705C>T	ENST00000338037.6	+	10	1016	c.989C>T	c.(988-990)tCg>tTg	p.S330L	PLCB1_ENST00000378637.2_Missense_Mutation_p.S330L|PLCB1_ENST00000378641.3_Missense_Mutation_p.S330L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATTAATTCCTCGCACAACACC	0.418																																																	0													196	194	195					20																	8665705		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.989C>T	20.37:g.8665705C>T	ENSP00000338185:p.Ser330Leu		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S330L	ENST00000338037.6	37	c.989	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.484887	0.96323	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.64260	-0.09;-0.09;-0.09	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92515	0.6020	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	330;330	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	330;330;330;250;250	ENSP00000367908:S330L;ENSP00000338185:S330L;ENSP00000367904:S330L	ENSP00000338185:S330L	S	+	2	0	PLCB1	8613705	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	TCG	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8665705	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8665705	C	T	8665705	3	4	147	1	0	0	0	0	1	0	0	0	12051	893	31	1	1027	1	PLCB1	20	8665705	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4502451	8665705	54359815	1074	24328										
C20orf112	140688	genome.wustl.edu	37	chr20	31062436	31062436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgtggaggttctgcgggctcCgcatcctctcgtcctggctg	14	13	2	0	rs139591950		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:31062436C>T	ENST00000359676.5	-	2	219	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	C20orf112_ENST00000375678.3_Missense_Mutation_p.R135Q|C20orf112_ENST00000475781.1_5'UTR|C20orf112_ENST00000375677.1_Missense_Mutation_p.R48Q|C20orf112_ENST00000326071.4_Missense_Mutation_p.R26Q	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		26						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTGCGGGCTCCGCATCCTCTC	0.632																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56	53	54		77	5.2	1	20	dbSNP_134	54	0,8600		0,0,4300	yes	missense	C20orf112	NM_080616.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	26/437	31062436	1,13005	2203	4300	6503	SO:0001583	missense	140688																														ENST00000359676.5:c.77G>A	20.37:g.31062436C>T	ENSP00000352704:p.Arg26Gln		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.R26Q	ENST00000359676.5	37	c.77	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435958	0.62955	2.27E-4	0.0	ENSG00000197183	ENST00000359676;ENST00000397984;ENST00000326071;ENST00000375677;ENST00000375678	.	.	.	5.2	5.2	0.72013	.	0.305040	0.30762	N	0.008930	T	0.46658	0.1404	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.53912	0.737;0.477	T	0.52253	-0.8600	9	0.87932	D	0	-0.2165	10.898	0.47034	0.0:0.913:0.0:0.087	.	26;26	Q5JYB6;Q96MY1	.;CT112_HUMAN	Q	26;26;26;48;135	.	ENSP00000317413:R26Q	R	-	2	0	C20orf112	30526097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.831000	0.48144	2.430000	0.82344	0.561000	0.74099	CGG	C20orf112	-	NULL		0.632	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	C			31062436	-1	no_errors	ENST00000359676	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31062436	C	T	31062436	3	4	147	1	0	0	0	0	1	0	0	0	2086	652	23	2	1261	2	C20orf112	20	31062436	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	22396731	31062436	31963084	1075	24329										
NDRG3	57446	genome.wustl.edu	37	chr20	35288785	35288785	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttcaggcgggaattgcattcGacctaaaatttaaaaaaaga	8	6	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:35288785G>A	ENST00000349004.1	-	13	894	c.813C>T	c.(811-813)gtC>gtT	p.V271V	NDRG3_ENST00000373803.2_Silent_p.V271V|NDRG3_ENST00000373773.3_Silent_p.V176V|NDRG3_ENST00000540765.1_Silent_p.V167V|NDRG3_ENST00000359675.2_Silent_p.V259V	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	271					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.V271V(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AATTGCATTCGACCTAAAATT	0.353																																																	1	Substitution - coding silent(1)	large_intestine(1)											82	82	82					20																	35288785		2203	4300	6503	SO:0001819	synonymous_variant	57446			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.813C>T	20.37:g.35288785G>A			A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.V271	ENST00000349004.1	37	c.813	CCDS13285.1	20																																																																																			NDRG3	-	pfam_Ndr		0.353	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	G			35288785	-1	no_errors	ENST00000349004	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35288785	G	A	35288785	2	1	147	1	0	0	0	0	0	0	0	1	10277	1045	37	1		1	NDRG3	20	35288785	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4226349	35288785	27736735	1076	24330										
DSN1	79980	genome.wustl.edu	37	chr20	35390934	35390934	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtctgcaaaatgtttcaattCttcagaaagagaagatgcta	8	6	4	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:35390934C>T	ENST00000426836.1	-	6	892	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	DSN1_ENST00000373750.4_Missense_Mutation_p.E174K|DSN1_ENST00000373740.3_Missense_Mutation_p.E102K|DSN1_ENST00000373734.4_Missense_Mutation_p.E67K|DSN1_ENST00000373745.3_Missense_Mutation_p.E174K|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Missense_Mutation_p.E158K	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	174					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGTTTCAATTCTTCAGAAAGA	0.348																																																	0													70	65	67					20																	35390934		2202	4300	6502	SO:0001583	missense	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.520G>A	20.37:g.35390934C>T	ENSP00000389810:p.Glu174Lys		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.E174K	ENST00000426836.1	37	c.520	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013084	0.75161	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	4.82	4.82	0.62117	.	0.111759	0.64402	D	0.000015	T	0.62417	0.2426	N	0.20986	0.625	0.39148	D	0.962179	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.975	T	0.64719	-0.6341	9	0.46703	T	0.11	-6.1463	13.5867	0.61935	0.0:1.0:0.0:0.0	.	67;174	Q5JW55;Q9H410	.;DSN1_HUMAN	K	174;174;158;107;174;102;67;158;174;74	.	ENSP00000362838:E107K	E	-	1	0	DSN1	34824348	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.849000	0.55910	2.673000	0.90976	0.491000	0.48974	GAA	DSN1	-	pfam_Mtw1_DSN1		0.348	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	C	NM_024918		35390934	-1	no_errors	ENST00000373745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35390934	C	T	35390934	3	4	147	1	0	0	0	0	1	0	0	0	4790	922	32	1	574	1	DSN1	20	35390934	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	102149	35390934	27634586	1077	24331										
KIAA0406	9675	genome.wustl.edu	37	chr20	36640910	36640910	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gatgtcagccacgtctagctCtagaacttggatgagtgctt	11	9	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:36640910C>G	ENST00000373448.2	-	3	1547	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.E437Q|TTI1_ENST00000449821.1_Missense_Mutation_p.E437Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	437					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACGTCTAGCTCTAGAACTTGG	0.483																																																	0													57	55	56					20																	36640910		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1309G>C	20.37:g.36640910C>G	ENSP00000362547:p.Glu437Gln		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E437Q	ENST00000373448.2	37	c.1309	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672290	0.67928	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.65916	-0.18;-0.18;-0.18	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.77103	2.36	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	T	0.74719	-0.3570	10	0.25751	T	0.34	-12.4309	18.5685	0.91126	0.0:1.0:0.0:0.0	.	437	O43156	TTI1_HUMAN	Q	437	ENSP00000362547:E437Q;ENSP00000362546:E437Q;ENSP00000407270:E437Q	ENSP00000362546:E437Q	E	-	1	0	TTI1	36074324	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	4.324000	0.59228	2.861000	0.98227	0.655000	0.94253	GAG	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.483	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36640910	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36640910	C	G	36640910	3	3	147	1	0	0	0	0	1	0	0	0	8193	922	32	1	1988	1	KIAA0406	20	36640910	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1249976	36640910	26384610	1078	24332										
FAM83D	81610	genome.wustl.edu	37	chr20	37580927	37580927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acttccacaatcctggctatCccaagtacctgggcaccccc	6	18	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:37580927C>T	ENST00000217429.4	+	4	1653	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	508					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTGGCTATCCCAAGTACCT	0.527																																																	0													53	55	54					20																	37580927		1928	4118	6046	SO:0001583	missense	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1612C>T	20.37:g.37580927C>T	ENSP00000217429:p.Pro538Ser		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	pfam_DUF1669	p.P538S	ENST00000217429.4	37	c.1612	CCDS42872.1	20	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546415	0.27652	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12465	2.68	5.91	-3.12	0.05282	.	0.679415	0.14479	N	0.317048	T	0.10208	0.0250	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26467	-1.0102	10	0.37606	T	0.19	.	2.9226	0.05774	0.0933:0.2011:0.3152:0.3904	.	508	Q9H4H8	FA83D_HUMAN	S	538;492	ENSP00000217429:P538S	ENSP00000217429:P538S	P	+	1	0	FAM83D	37014341	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	-1.244000	0.02902	-0.508000	0.06540	-0.165000	0.13383	CCC	FAM83D	-	NULL		0.527	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83D	HGNC	protein_coding	OTTHUMT00000079211.1	C			37580927	1	no_errors	ENST00000217429	ensembl	human	known	70_37	missense	SNP	0.000	T	T	37580927	C	T	37580927	3	4	147	1	0	0	0	0	1	0	0	0	5654	855	30	1	1626	1	FAM83D	20	37580927	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	940017	37580927	25444593	1079	24333										
CHD6	84181	genome.wustl.edu	37	chr20	40111954	40111954	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgacacaagtctcaccttctCtggatgaggtaatcttctag	8	10	4	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:40111954C>T	ENST00000373233.3	-	16	2640	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	821	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCACCTTCTCTGGATGAGGT	0.408																																																	0													78	69	72					20																	40111954		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2463G>A	20.37:g.40111954C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q821	ENST00000373233.3	37	c.2463	CCDS13317.1	20																																																																																			CHD6	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40111954	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40111954	C	T	40111954	2	4	147	1	0	0	0	0	0	0	0	1	3334	912	32	1		1	CHD6	20	40111954	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2531027	40111954	22913566	1080	24334										
TOX2	84969	genome.wustl.edu	37	chr20	42635383	42635383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctcccagccatcatggtgtCcaacatgctagcacaggaca	8	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:42635383C>T	ENST00000358131.5	+	3	597	c.389C>T	c.(388-390)tCc>tTc	p.S130F	RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000372999.1_Missense_Mutation_p.S79F|TOX2_ENST00000341197.4_Missense_Mutation_p.S121F|TOX2_ENST00000423191.2_Missense_Mutation_p.S79F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	130					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATCATGGTGTCCAACATGCTA	0.637																																																	0													83	62	69					20																	42635383		2203	4300	6503	SO:0001583	missense	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.389C>T	20.37:g.42635383C>T	ENSP00000350849:p.Ser130Phe		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S121F	ENST00000358131.5	37	c.362	CCDS42875.1	20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894848	0.91962	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	L	0.56199	1.76	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.996;0.998	D;D;D;D	0.83275	0.996;0.974;0.928;0.991	T	0.63332	-0.6661	10	0.72032	D	0.01	.	17.8513	0.88747	0.0:1.0:0.0:0.0	.	121;79;130;79	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	F	121;79;79;79;130	ENSP00000344724:S121F;ENSP00000396584:S79F;ENSP00000390278:S79F;ENSP00000362090:S79F;ENSP00000350849:S130F	ENSP00000344724:S121F	S	+	2	0	TOX2	42068797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.555000	0.86185	0.655000	0.94253	TCC	TOX2	-	NULL		0.637	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	C			42635383	1	no_errors	ENST00000341197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42635383	C	T	42635383	3	4	147	1	0	0	0	0	1	0	0	0	16409	855	30	1	502	1	TOX2	20	42635383	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2523429	42635383	20390137	1081	24335										
SLC12A5	57468	genome.wustl.edu	37	chr20	44671866	44671866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgacctcggtgggcctggccGatggcactcctatcgacatg	13	13	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:44671866G>A	ENST00000454036.2	+	9	1259	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D381N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	404					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCCTGGCCGATGGCACTCC	0.567																																																	0													280	237	251					20																	44671866		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1210G>A	20.37:g.44671866G>A	ENSP00000387694:p.Asp404Asn		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D404N	ENST00000454036.2	37	c.1210	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921443	0.33908	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84223	-1.82;-1.81	4.47	4.47	0.54385	.	0.834453	0.10910	N	0.620705	T	0.78698	0.4324	L	0.31578	0.945	0.80722	D	1	B;B	0.30851	0.02;0.297	B;B	0.28709	0.004;0.093	T	0.71192	-0.4665	10	0.22109	T	0.4	.	16.6495	0.85185	0.0:0.0:1.0:0.0	.	404;381	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	404;381	ENSP00000387694:D404N;ENSP00000243964:D381N	ENSP00000243964:D381N	D	+	1	0	SLC12A5	44105273	1.000000	0.71417	0.115000	0.21578	0.143000	0.21401	5.629000	0.67798	2.470000	0.83445	0.462000	0.41574	GAT	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	G			44671866	1	no_errors	ENST00000454036	ensembl	human	known	70_37	missense	SNP	0.986	A	A	44671866	G	A	44671866	3	1	147	1	0	0	0	0	1	0	0	0	14416	1058	37	1	1300	1	SLC12A5	20	44671866	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2036483	44671866	18353654	1082	24336										
TH1L	51497	genome.wustl.edu	37	chr20	57564672	57564672	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atggaggagaagaaaaccttGaaaaaaatctccctgagttt	9	6	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:57564672G>C	ENST00000344018.3	+	6	688	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	NELFCD_ENST00000602795.1_Missense_Mutation_p.E230Q			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	221					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											AGAAAACCTTGAAAAAAATCT	0.453																																																	0													109	124	119					20																	57564672		2203	4300	6503	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.661G>C	20.37:g.57564672G>C	ENSP00000342300:p.Glu221Gln		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.E221Q	ENST00000344018.3	37	c.661		20	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201491	0.58234	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	N	0.02391	-0.57	0.58432	D	0.999998	D;B;P	0.62365	0.991;0.094;0.872	P;B;P	0.62089	0.898;0.15;0.478	T	0.51942	-0.8641	9	0.16420	T	0.52	-24.8598	18.0843	0.89453	0.0:0.0:1.0:0.0	.	221;230;221	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	Q	221	.	ENSP00000342300:E221Q	E	+	1	0	TH1L	56998067	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.410000	0.97335	2.717000	0.92951	0.655000	0.94253	GAA	TH1L	-	pfam_TH1		0.453	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	TH1L	HGNC	protein_coding		G	NM_198976		57564672	1	no_errors	ENST00000344018	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57564672	G	C	57564672	3	2	147	1	0	0	0	0	1	0	0	0	15869	1291	45	1	683	1	TH1L	20	57564672	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12892806	57564672	5460848	1083	24337										
COL9A3	1299	genome.wustl.edu	37	chr20	61467602	61467602	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccaacggcaccagcggtgttCagggtgtccccgggcccccc	13	18	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:61467602C>T	ENST00000343916.3	+	28	1468	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	489	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGCGGTGTTCAGGGTGTCCC	0.697																																																	0													26	34	31					20																	61467602		2203	4299	6502	SO:0001587	stop_gained	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1465C>T	20.37:g.61467602C>T	ENSP00000341640:p.Gln489*		Q13681|Q9H4G9|Q9UPE2	Nonsense_Mutation	SNP	pfam_Collagen	p.Q489*	ENST00000343916.3	37	c.1465	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508177	0.44660	.	.	ENSG00000092758	ENST00000343916	.	.	.	4.63	2.66	0.31614	.	0.443877	0.23995	N	0.042525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.0886	0.64975	0.0:0.6394:0.3606:0.0	.	.	.	.	X	489	.	ENSP00000341640:Q489X	Q	+	1	0	COL9A3	60938047	0.091000	0.21658	0.041000	0.18516	0.047000	0.14425	1.159000	0.31749	0.380000	0.24823	-0.264000	0.10439	CAG	COL9A3	-	pfam_Collagen		0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61467602	1	no_errors	ENST00000343916	ensembl	human	known	70_37	nonsense	SNP	0.409	T	T	61467602	C	T	61467602	4	4	147	1	0	0	0	0	0	1	0	0	3714	827	29	1	1575	1	COL9A3	20	61467602	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3902930	61467602	1557918	1084	24338										
DIDO1	11083	genome.wustl.edu	37	chr20	61526236	61526236	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggggccgtcttcttgctttCattgtgcagtttagttctgg	13	8	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:61526236C>T	ENST00000266070.4	-	10	2687	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	DIDO1_ENST00000395340.1_Missense_Mutation_p.E788K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E788K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E788K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	788	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCTTGCTTTCATTGTGCAGT	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													76	85	81					20																	61526236		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2362G>A	20.37:g.61526236C>T	ENSP00000266070:p.Glu788Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E788K	ENST00000266070.4	37	c.2362	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835977	0.71373	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13901	2.88;2.88;2.55;2.55	5.63	5.63	0.86233	Transcription elongation factor S-II, central domain (1);	0.000000	0.44097	D	0.000497	T	0.28333	0.0700	M	0.65498	2.005	0.80722	D	1	P;P	0.49559	0.925;0.89	P;B	0.49752	0.621;0.318	T	0.00565	-1.1668	10	0.49607	T	0.09	-25.9814	19.6825	0.95970	0.0:1.0:0.0:0.0	.	788;788	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	K	788	ENSP00000266070:E788K;ENSP00000378752:E788K;ENSP00000378749:E788K;ENSP00000378744:E788K	ENSP00000266070:E788K	E	-	1	0	DIDO1	60996681	0.999000	0.42202	0.037000	0.18230	0.421000	0.31385	5.294000	0.65687	2.659000	0.90383	0.561000	0.74099	GAA	DIDO1	-	NULL		0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61526236	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.946	T	T	61526236	C	T	61526236	3	4	147	1	0	0	0	0	1	0	0	0	4532	835	29	1	4417	1	DIDO1	20	61526236	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	58634	61526236	1499284	1085	24339										
PRIC285	85441	genome.wustl.edu	37	chr20	62197125	62197125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctgccgcagcctccgtctgcGctgtggttgccgtgatgtca	13	14	2	1	rs145321285		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62197125G>A	ENST00000467148.1	-	8	3119	c.3050C>T	c.(3049-3051)gCg>gTg	p.A1017V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A448V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1017	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCGTCTGCGCTGTGGTTGC	0.692													G|||	1	0.000199681	8e-04	0	5008	,	,		18436	0		0	False		,,,				2504	0																0								G	VAL/ALA,VAL/ALA	2,4386		0,2,2192	31	25	27		3050,1343	-6	0	20	dbSNP_134	27	0,8588		0,0,4294	yes	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	64,64	0,2,6486	AA,AG,GG		0.0,0.0456,0.0154	possibly-damaging,possibly-damaging	1017/2650,448/2081	62197125	2,12974	2194	4294	6488	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3050C>T	20.37:g.62197125G>A	ENSP00000417401:p.Ala1017Val		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A1017V	ENST00000467148.1	37	c.3050	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	7.338	0.620312	0.14193	4.56E-4	0.0	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79940	-1.32;-1.21	2.99	-5.97	0.02227	.	2.166060	0.02568	N	0.097449	T	0.56277	0.1974	N	0.04959	-0.14	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.10450	0.001;0.005	T	0.47898	-0.9081	10	0.28530	T	0.3	0.7303	2.3031	0.04167	0.2887:0.0967:0.4357:0.1789	.	1017;448	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	448;1017	ENSP00000393257:A448V;ENSP00000417401:A1017V	ENSP00000393257:A448V	A	-	2	0	RP4-697K14.7	61667569	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.112000	0.03299	-2.070000	0.00881	-0.657000	0.03884	GCG	HELZ2	-	NULL		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62197125	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.000	A	A	62197125	G	A	62197125	3	1	147	1	0	0	0	0	1	0	0	0	12512	1087	38	2	4947	2	PRIC285	20	62197125	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	670889	62197125	828395	1086	24340										
PRIC285	85441	genome.wustl.edu	37	chr20	62199862	62199862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atccccagggccccagcccgCgatgagcgccacggccagct	12	19	0	1	rs143335677		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62199862C>T	ENST00000467148.1	-	5	1648	c.1579G>A	c.(1579-1581)Gcg>Acg	p.A527T	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	527					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCCCAGCCCGCGATGAGCGCC	0.697																																																	0								C	THR/ALA	3,4347		0,3,2172	22	21	21		1579	0.8	0	20	dbSNP_134	21	0,8556		0,0,4278	no	missense	PRIC285	NM_001037335.2	58	0,3,6450	TT,TC,CC		0.0,0.069,0.0232	benign	527/2650	62199862	3,12903	2175	4278	6453	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1579G>A	20.37:g.62199862C>T	ENSP00000417401:p.Ala527Thr		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A527T	ENST00000467148.1	37	c.1579	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	4.468	0.086736	0.08583	6.9E-4	0.0	ENSG00000130589	ENST00000467148	T	0.77098	-1.07	4.49	0.844	0.18943	.	1.238380	0.06131	N	0.670701	T	0.62998	0.2474	N	0.25992	0.78	0.09310	N	1	B	0.24576	0.106	B	0.21708	0.036	T	0.47749	-0.9093	10	0.27785	T	0.31	-15.856	4.7947	0.13267	0.1725:0.507:0.0:0.3205	.	527	Q9BYK8	PR285_HUMAN	T	527	ENSP00000417401:A527T	ENSP00000417401:A527T	A	-	1	0	RP4-697K14.7	61670306	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-0.064000	0.11636	0.327000	0.23409	0.558000	0.71614	GCG	HELZ2	-	NULL		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62199862	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62199862	C	T	62199862	3	4	147	1	0	0	0	0	1	0	0	0	12512	768	27	2	6453	2	PRIC285	20	62199862	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2737	62199862	825658	1087	24341										
TCEA2	6919	genome.wustl.edu	37	chr20	62699457	62699457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catgcctctgcccacgtcctCgagggatgcctcagaggccc	11	17	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62699457C>G	ENST00000343484.5	+	4	468	c.299C>G	c.(298-300)tCg>tGg	p.S100W	TCEA2_ENST00000361317.2_Missense_Mutation_p.S73W|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_Missense_Mutation_p.S100W	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	100					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCCACGTCCTCGAGGGATGCC	0.627																																																	0													47	43	44					20																	62699457		2203	4300	6503	SO:0001583	missense	6919			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.299C>G	20.37:g.62699457C>G	ENSP00000343515:p.Ser100Trp		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.S100W	ENST00000343484.5	37	c.299	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575331	0.45902	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442	.	.	.	3.21	3.21	0.36854	.	0.369733	0.25555	N	0.029878	T	0.54498	0.1862	L	0.32530	0.975	0.31270	N	0.691805	P;P;D;D	0.76494	0.954;0.954;0.999;0.999	D;D;D;D	0.71414	0.922;0.922;0.973;0.963	T	0.59867	-0.7373	9	0.87932	D	0	-12.6751	12.3256	0.55009	0.0:1.0:0.0:0.0	.	100;100;73;100	Q15560;Q6IB64;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.	W	73;100;100;73;73;73;73	.	ENSP00000339432:S73W	S	+	2	0	TCEA2	62169901	0.000000	0.05858	0.010000	0.14722	0.384000	0.30261	0.643000	0.24750	2.104000	0.64026	0.561000	0.74099	TCG	TCEA2	-	pirsf_TF_IIS-rel,tigrfam_TFSII		0.627	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	HGNC	protein_coding	OTTHUMT00000080277.2	C	NM_198723		62699457	1	no_errors	ENST00000343484	ensembl	human	known	70_37	missense	SNP	0.204	G	G	62699457	C	G	62699457	3	3	147	1	0	0	0	0	1	0	0	0	15698	893	31	1	313	1	TCEA2	20	62699457	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	499595	62699457	326063	1088	24342										
PCMTD2	55251	genome.wustl.edu	37	chr20	62891509	62891509	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcatggaaacattcacctctCagccccgtgcatctactcgg	8	15	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62891509C>G	ENST00000308824.6	+	2	318	c.191C>G	c.(190-192)tCa>tGa	p.S64*	PCMTD2_ENST00000369758.4_Nonsense_Mutation_p.S64*|PCMTD2_ENST00000609372.1_Nonsense_Mutation_p.S64*|PCMTD2_ENST00000299468.7_Nonsense_Mutation_p.S64*	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	64						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATTCACCTCTCAGCCCCGTGC	0.483																																																	0													132	131	132					20																	62891509		2203	4300	6503	SO:0001587	stop_gained	55251			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.191C>G	20.37:g.62891509C>G	ENSP00000307854:p.Ser64*		E1P5H3|Q8IW60|Q9H4K2	Nonsense_Mutation	SNP	pfam_PCMT	p.S64*	ENST00000308824.6	37	c.191	CCDS13559.1	20	.	.	.	.	.	.	.	.	.	.	.	38	6.929632	0.97944	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.0996	19.6287	0.95691	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000299468:S64X	S	+	2	0	PCMTD2	62361953	1.000000	0.71417	0.890000	0.34922	0.928000	0.56348	7.131000	0.77243	2.652000	0.90054	0.563000	0.77884	TCA	PCMTD2	-	pfam_PCMT		0.483	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	HGNC	protein_coding	OTTHUMT00000080301.1	C	NM_018257		62891509	1	no_errors	ENST00000308824	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	62891509	C	G	62891509	4	3	147	1	0	0	0	0	0	1	0	0	11611	838	29	1	193	1	PCMTD2	20	62891509	Nonsense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	192052	62891509	134011	1089	24343										
NCAM2	4685	genome.wustl.edu	37	chr21	22906976	22906976	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccacaccactgacagaacctGagtatgtggcttggagtgct	11	11	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:22906976G>C	ENST00000400546.1	+	17	2650	c.2401G>C	c.(2401-2403)Gaa>Caa	p.E801Q	NCAM2_ENST00000284894.7_Splice_Site_p.E659Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	801					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACAGAACCTGAGTATGTGGC	0.358																																																	0													99	95	96					21																	22906976		1926	4132	6058	SO:0001630	splice_region_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2402+1G>C	21.37:g.22906976G>C			A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	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,prints_Neural_cell_adh	p.E801Q	ENST00000400546.1	37	c.2401	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885099	0.72410	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.53857	0.6;0.6	5.49	5.49	0.81192	.	0.303457	0.35320	N	0.003296	T	0.51398	0.1672	L	0.53249	1.67	0.80722	D	1	P;P	0.39480	0.675;0.675	B;B	0.37144	0.242;0.242	T	0.57254	-0.7843	10	0.62326	D	0.03	-28.9126	17.9371	0.89015	0.0:0.0:1.0:0.0	.	659;801	B7Z5K2;O15394	.;NCAM2_HUMAN	Q	801;659	ENSP00000383392:E801Q;ENSP00000284894:E659Q	ENSP00000284894:E659Q	E	+	1	0	NCAM2	21828847	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.096000	0.94182	2.584000	0.87258	0.460000	0.39030	GAA	NCAM2	-	NULL		0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	G	NM_004540	Missense_Mutation	22906976	1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22906976	G	C	22906976	5	2	147	1	0	0	0	0	0	0	1	0	10227	1304	45	1	2467	1	NCAM2	21	22906976	Splice_Site	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		22906976	25222919	1090	24344										
N6AMT1	29104	genome.wustl.edu	37	chr21	30255320	30255320	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacttacatgtacaaagcctGagggcctatcatagaggcta	9	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:30255320G>A	ENST00000303775.5	-	2	233	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	N6AMT1_ENST00000351429.3_Nonsense_Mutation_p.Q70*	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	70					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.Q70K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TACAAAGCCTGAGGGCCTATC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											92	85	88					21																	30255320		2203	4300	6503	SO:0001587	stop_gained	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.208C>T	21.37:g.30255320G>A	ENSP00000303584:p.Gln70*		Q96F73	Nonsense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch	p.Q70*	ENST00000303775.5	37	c.208	CCDS33526.1	21	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689870	0.88735	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	.	.	.	5.34	5.34	0.76211	.	0.698726	0.14737	N	0.301410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.3943	11.3879	0.49796	0.0:0.0:0.7284:0.2716	.	.	.	.	X	70	.	ENSP00000303584:Q70X	Q	-	1	0	N6AMT1	29177191	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	3.005000	0.49521	2.781000	0.95711	0.650000	0.86243	CAG	N6AMT1	-	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch		0.343	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	HGNC	protein_coding	OTTHUMT00000171738.1	G	NM_013240		30255320	-1	no_errors	ENST00000303775	ensembl	human	known	70_37	nonsense	SNP	0.772	A	A	30255320	G	A	30255320	4	1	147	1	0	0	0	0	0	1	0	0	10137	1299	45	1	456	1	N6AMT1	21	30255320	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	7348344	30255320	17874575	1091	24345										
CCT8	10694	genome.wustl.edu	37	chr21	30434718	30434718	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actgtcacagtgtcccatttCttcaaggacaggaggtgtct	10	10	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:30434718C>G	ENST00000286788.4	-	10	1233	c.1027G>C	c.(1027-1029)Gaa>Caa	p.E343Q	CCT8_ENST00000540844.1_Missense_Mutation_p.E270Q|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.E324Q|AF129075.5_ENST00000457162.2_RNA	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	343					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TGTCCCATTTCTTCAAGGACA	0.368																																																	0													113	93	99					21																	30434718		2203	4300	6503	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1027G>C	21.37:g.30434718C>G	ENSP00000286788:p.Glu343Gln		A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.E343Q	ENST00000286788.4	37	c.1027	CCDS33528.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.850031|4.850031	0.91277|0.91277	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844|ENST00000431234	T;T;T|.	0.79940|.	-1.32;-1.32;-1.32|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86632|0.86632	0.5979|0.5979	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.981;0.998;0.997;0.999|.	D;P;D;D;D|.	0.77004|.	0.989;0.903;0.989;0.98;0.97|.	D|D	0.88209|0.88209	0.2889|0.2889	10|5	0.72032|.	D|.	0.01|.	-29.6511|-29.6511	20.3754|20.3754	0.98918|0.98918	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	270;324;343;342;343|.	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990|.	.;.;.;.;TCPQ_HUMAN|.	Q|N	342;343;324;270|288	ENSP00000286788:E343Q;ENSP00000444984:E324Q;ENSP00000442730:E270Q|.	ENSP00000286788:E343Q|.	E|K	-|-	1|3	0|2	CCT8|CCT8	29356589|29356589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.351000|7.351000	0.79395|0.79395	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAA|AAG	CCT8	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	C			30434718	-1	no_errors	ENST00000286788	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30434718	C	G	30434718	3	3	147	1	0	0	0	0	1	0	0	0	2965	922	32	1	643	1	CCT8	21	30434718	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	179398	30434718	17695177	1092	24346										
SFRS15	57466	genome.wustl.edu	37	chr21	33065777	33065777	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagatctagaaccagatctaGatcgcctcctttttggtgac	9	10	2	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:33065777G>C	ENST00000286835.7	-	12	1725	c.1343C>G	c.(1342-1344)tCt>tGt	p.S448C	SCAF4_ENST00000434667.3_Missense_Mutation_p.S433C|SCAF4_ENST00000399804.1_Missense_Mutation_p.S448C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	448						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCAGATCTAGATCGCCTCCT	0.433																																																	0													88	65	73					21																	33065777		2203	4300	6503	SO:0001583	missense	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1343C>G	21.37:g.33065777G>C	ENSP00000286835:p.Ser448Cys		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.S448C	ENST00000286835.7	37	c.1343	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112542	0.77210	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.31769	1.48;1.48;1.48	5.2	5.2	0.72013	.	0.071014	0.64402	D	0.000016	T	0.58293	0.2112	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.61884	-0.6971	10	0.62326	D	0.03	-25.4438	18.7325	0.91741	0.0:0.0:1.0:0.0	.	433;448;448;448	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	C	433;448;448	ENSP00000402377:S433C;ENSP00000286835:S448C;ENSP00000382703:S448C	ENSP00000286835:S448C	S	-	2	0	SCAF4	31987648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.808000	0.99193	2.413000	0.81919	0.557000	0.71058	TCT	SCAF4	-	NULL		0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	G	XM_047889		33065777	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33065777	G	C	33065777	3	2	147	1	0	0	0	0	1	0	0	0	14201	942	33	1	2136	1	SFRS15	21	33065777	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2631059	33065777	15064118	1093	24347										
MORC3	23515	genome.wustl.edu	37	chr21	37728969	37728969	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatgattactggaatgaaatGaaagtgaagaaaaatacaga	9	2	0	6			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:37728969G>C	ENST00000400485.1	+	10	1231	c.1155G>C	c.(1153-1155)atG>atC	p.M385I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	385					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGAATGAAATGAAAGTGAAGA	0.259																																																	0													79	78	78					21																	37728969		1807	4058	5865	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1155G>C	21.37:g.37728969G>C	ENSP00000383333:p.Met385Ile		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.M385I	ENST00000400485.1	37	c.1155	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133099	0.37630	.	.	ENSG00000159256	ENST00000400485	T	0.12774	2.65	5.92	5.92	0.95590	.	0.074122	0.85682	D	0.000000	T	0.09862	0.0242	N	0.14661	0.345	0.47659	D	0.999488	B	0.24721	0.11	B	0.22386	0.039	T	0.24584	-1.0156	10	0.09843	T	0.71	-27.0725	20.3151	0.98650	0.0:0.0:1.0:0.0	.	385	Q14149	MORC3_HUMAN	I	385	ENSP00000383333:M385I	ENSP00000383333:M385I	M	+	3	0	MORC3	36650839	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.955000	0.87856	2.809000	0.96659	0.467000	0.42956	ATG	MORC3	-	NULL		0.259	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	G	NM_015358		37728969	1	no_errors	ENST00000400485	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37728969	G	C	37728969	3	2	147	1	0	0	0	0	1	0	0	0	9726	1290	45	1	1193	1	MORC3	21	37728969	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4663192	37728969	10400926	1094	24348										
SIM2	6493	genome.wustl.edu	37	chr21	38117369	38117369	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctagtgcctagcagctcgtCtccagctaaaaatcctccag	7	15	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:38117369C>A	ENST00000290399.6	+	10	2121	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	SIM2_ENST00000430056.3_Missense_Mutation_p.S503Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	503	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGCAGCTCGTCTCCAGCTAAA	0.597																																																	0													42	36	38					21																	38117369		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1508C>A	21.37:g.38117369C>A	ENSP00000290399:p.Ser503Tyr		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.S503Y	ENST00000290399.6	37	c.1508	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481214	0.63849	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.47528	0.84;0.84	4.74	4.74	0.60224	Single-minded, C-terminal (2);	3.021220	0.00714	N	0.000843	T	0.71517	0.3349	L	0.54323	1.7	0.33964	D	0.645944	D;D	0.71674	0.998;0.996	D;D	0.73708	0.981;0.967	T	0.60449	-0.7261	10	0.87932	D	0	.	18.1411	0.89639	0.0:1.0:0.0:0.0	.	503;503	Q14190;Q14190-2	SIM2_HUMAN;.	Y	503	ENSP00000290399:S503Y;ENSP00000404176:S503Y	ENSP00000290399:S503Y	S	+	2	0	SIM2	37039239	1.000000	0.71417	0.467000	0.27180	0.566000	0.35808	5.542000	0.67218	2.337000	0.79520	0.558000	0.71614	TCT	SIM2	-	pfam_SIM_C		0.597	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	C	NM_009586		38117369	1	no_errors	ENST00000290399	ensembl	human	known	70_37	missense	SNP	0.725	A	A	38117369	C	A	38117369	3	1	147	1	0	0	0	0	1	0	0	0	14354	913	32	3	1546	3	SIM2	21	38117369	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	388400	38117369	10012526	1095	24349										
U2AF1	7307	genome.wustl.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2	rs371769427		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe		Q701P4|Q71RF1	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1	-	pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	G	NM_006758		44524456	-1	no_errors	ENST00000291552	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	147	1	0	0	0	0	1	0	0	0	16852	942	33	1	720	1	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6407087	44524456	3605439	1096	24350										
KRTAP10-3	386682	genome.wustl.edu	37	chr21	45977948	45977948	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcccgtcagcagctggacttCtggcctgaggagaggccgca	15	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:45977948C>T	ENST00000391620.1	-	1	695	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	217						keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGCTGGACTTCTGGCCTGAGG	0.662																																																	0													28	32	31					21																	45977948		2167	4262	6429	SO:0001819	synonymous_variant	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.651G>A	21.37:g.45977948C>T			A3KN67|Q70LJ4	Silent	SNP	NULL	p.Q217	ENST00000391620.1	37	c.651	CCDS42956.1	21																																																																																			KRTAP10-3	-	NULL		0.662	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	HGNC	protein_coding	OTTHUMT00000128031.1	C			45977948	-1	no_errors	ENST00000391620	ensembl	human	known	70_37	silent	SNP	0.220	T	T	45977948	C	T	45977948	2	4	147	1	0	0	0	0	0	0	0	1	8530	912	32	1		1	KRTAP10-3	21	45977948	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1453492	45977948	2151947	1097	24351										
KRTAP10-6	386674	genome.wustl.edu	37	chr21	46012207	46012207	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actggggtgcagaccaggctCaggcagggggccggggcgca	20	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:46012207C>G	ENST00000400368.1	-	1	179	c.159G>C	c.(157-159)ctG>ctC	p.L53L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	53	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACCAGGCTCAGGCAGGGGG	0.687																																																	0													17	13	14					21																	46012207		1985	4085	6070	SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.159G>C	21.37:g.46012207C>G				Silent	SNP	NULL	p.L53	ENST00000400368.1	37	c.159	CCDS42959.1	21																																																																																			KRTAP10-6	-	NULL		0.687	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	HGNC	protein_coding	OTTHUMT00000128037.1	C	NM_198688		46012207	-1	no_errors	ENST00000400368	ensembl	human	known	70_37	silent	SNP	0.841	G	G	46012207	C	G	46012207	2	3	147	1	0	0	0	0	0	0	0	1	8533	813	29	1		1	KRTAP10-6	21	46012207	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	34259	46012207	2117688	1098	24352										
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46066404	46066404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtccaccatgtctgtctgctCcagcgcttactccgactcct	7	17	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:46066404C>G	ENST00000334670.8	+	1	74	c.29C>G	c.(28-30)tCc>tGc	p.S10C	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	10						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCTGTCTGCTCCAGCGCTTAC	0.667																																																	0													71	75	74					21																	46066404		2203	4298	6501	SO:0001583	missense	386678			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.29C>G	21.37:g.46066404C>G	ENSP00000334197:p.Ser10Cys		A2RRF9	Missense_Mutation	SNP	NULL	p.S10C	ENST00000334670.8	37	c.29	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	10.06	1.246216	0.22796	.	.	ENSG00000243489	ENST00000334670	T	0.14266	2.52	3.83	3.83	0.44106	.	.	.	.	.	T	0.34629	0.0904	M	0.69358	2.11	0.34147	D	0.667095	D	0.89917	1.0	D	0.83275	0.996	T	0.52366	-0.8585	9	0.87932	D	0	.	13.2262	0.59916	0.0:1.0:0.0:0.0	.	10	P60412	KR10B_HUMAN	C	10	ENSP00000334197:S10C	ENSP00000334197:S10C	S	+	2	0	KRTAP10-11	44890832	1.000000	0.71417	0.984000	0.44739	0.014000	0.08584	2.451000	0.44952	1.679000	0.50963	0.462000	0.41574	TCC	KRTAP10-11	-	NULL		0.667	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	C	NM_198692		46066404	1	no_errors	ENST00000334670	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46066404	C	G	46066404	3	3	147	1	0	0	0	0	1	0	0	0	8527	855	30	1	31	1	KRTAP10-11	21	46066404	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	54197	46066404	2063491	1099	24353										
LSS	4047	genome.wustl.edu	37	chr21	47635106	47635106	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcactgaccgggccgatgctGatgctcttggtgaatcggtc	14	11	1	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:47635106G>C	ENST00000397728.3	-	9	1077	c.999C>G	c.(997-999)atC>atG	p.I333M	LSS_ENST00000356396.4_Missense_Mutation_p.I333M|LSS_ENST00000457828.2_Missense_Mutation_p.I253M|LSS_ENST00000522411.1_Missense_Mutation_p.I322M|LSS_ENST00000464357.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	333					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGCCGATGCTGATGCTCTTGG	0.632																																					Pancreas(114;955 2313 34923 50507)												0													77	71	73					21																	47635106		2203	4300	6503	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.999C>G	21.37:g.47635106G>C	ENSP00000380837:p.Ile333Met		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.I333M	ENST00000397728.3	37	c.999	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089932	0.76756	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.68	2.88	0.33553	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (2);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.89904	3.07	0.54753	D	0.999985	D;D	0.76494	0.999;0.998	D;D	0.73380	0.98;0.955	T	0.70270	-0.4918	10	0.66056	D	0.02	.	8.8204	0.35023	0.1374:0.1244:0.7382:0.0	.	322;333	E9PEI9;P48449	.;ERG7_HUMAN	M	333;253;333;322	ENSP00000348762:I333M;ENSP00000409191:I253M;ENSP00000380837:I333M;ENSP00000429133:I322M	ENSP00000348762:I333M	I	-	3	3	LSS	46459534	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	5.562000	0.67346	0.328000	0.23435	0.555000	0.69702	ATC	LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase		0.632	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	G			47635106	-1	no_errors	ENST00000356396	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47635106	G	C	47635106	3	2	147	1	0	0	0	0	1	0	0	0	9088	1280	45	1	1255	1	LSS	21	47635106	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1568702	47635106	494789	1100	24354										
DIP2A	23181	genome.wustl.edu	37	chr21	47987458	47987458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccctatcaactctcggggtGagaagcagcgcatgcacctg	11	13	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:47987458G>A	ENST00000417564.2	+	38	4660	c.4639G>A	c.(4639-4641)Gag>Aag	p.E1547K	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.E1543K|DIP2A_ENST00000318711.7_Missense_Mutation_p.E1548K			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1547					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCTCGGGGTGAGAAGCAGCG	0.637																																																	0													87	98	94					21																	47987458		2203	4300	6503	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4639G>A	21.37:g.47987458G>A	ENSP00000392066:p.Glu1547Lys		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E1548K	ENST00000417564.2	37	c.4642	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	36	5.607046	0.96626	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.01234	5.13;5.13;5.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.02418	0.0074	N	0.04768	-0.165	0.80722	D	1	P;D	0.54964	0.813;0.969	P;D	0.63877	0.754;0.919	T	0.75436	-0.3318	10	0.10377	T	0.69	-36.4283	18.5143	0.90930	0.0:0.0:1.0:0.0	.	1548;1547	E9PER1;Q14689	.;DIP2A_HUMAN	K	1543;1548;1547	ENSP00000383133:E1543K;ENSP00000323633:E1548K;ENSP00000392066:E1547K	ENSP00000323633:E1548K	E	+	1	0	DIP2A	46811886	1.000000	0.71417	0.984000	0.44739	0.893000	0.52053	9.627000	0.98412	2.632000	0.89209	0.655000	0.94253	GAG	DIP2A	-	NULL		0.637	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47987458	1	no_errors	ENST00000318711	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47987458	G	A	47987458	3	1	147	1	0	0	0	0	1	0	0	0	4537	1291	45	1	4902	1	DIP2A	21	47987458	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	352352	47987458	142437	1101	24355										
CLTCL1	8218	genome.wustl.edu	37	chr22	19230407	19230407	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catggccttctatgggttgtGaaaccttcctatccacagag	9	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:19230407G>C	ENST00000263200.10	-	4	644	c.572C>G	c.(571-573)tCa>tGa	p.S191*	CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.S191*|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.S191*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	191	Globular terminal domain.|WD40-like repeat 4.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TATGGGTTGTGAAACCTTCCT	0.463			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													78	74	76					22																	19230407		1911	4145	6056	SO:0001587	stop_gained	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.572C>G	22.37:g.19230407G>C	ENSP00000445677:p.Ser191*		B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.S191*	ENST00000263200.10	37	c.572	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.404293	0.97537	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6646	15.966	0.79970	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000445677:S191X	S	-	2	0	CLTCL1	17610407	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	8.552000	0.90682	1.963000	0.57068	0.655000	0.94253	TCA	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.463	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	G	NM_007098		19230407	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	19230407	G	C	19230407	4	2	147	1	0	0	0	0	0	1	0	0	3572	1294	45	1	4466	1	CLTCL1	22	19230407	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09		19230407	32074159	1102	24356										
UFD1L	7353	genome.wustl.edu	37	chr22	19452740	19452740	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcaccttttcattatagttGatggcaatcacatccccggt	6	12	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:19452740G>C	ENST00000263202.10	-	6	609	c.480C>G	c.(478-480)atC>atG	p.I160M	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.I160M|UFD1L_ENST00000360834.4_Missense_Mutation_p.I149M	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	160					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATTATAGTTGATGGCAATCA	0.458																																																	0													155	131	139					22																	19452740		2203	4300	6503	SO:0001583	missense	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.480C>G	22.37:g.19452740G>C	ENSP00000263202:p.Ile160Met		A8MW31|Q9Y5N0	Missense_Mutation	SNP	pfam_UFD1	p.I160M	ENST00000263202.10	37	c.480	CCDS13761.1	22	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068340	0.76301	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.71	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.89214	3.015	0.58432	D	0.999997	P;P;P	0.43477	0.808;0.676;0.676	D;D;D	0.72625	0.964;0.935;0.978	T	0.78703	-0.2101	10	0.72032	D	0.01	.	10.8404	0.46710	0.1434:0.0:0.8566:0.0	.	160;160;160	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	M	160;149;160;196;64;149	ENSP00000263202:I160M;ENSP00000354079:I149M;ENSP00000382439:I160M;ENSP00000402136:I64M;ENSP00000406680:I149M	ENSP00000263202:I160M	I	-	3	3	UFD1L	17832740	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.841000	0.55850	1.423000	0.47198	0.561000	0.74099	ATC	UFD1L	-	pfam_UFD1		0.458	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	G			19452740	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19452740	G	C	19452740	3	2	147	1	0	0	0	0	1	0	0	0	16966	1280	45	1	471	1	UFD1L	22	19452740	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	222333	19452740	31851826	1103	24357										
TOP3B	8940	genome.wustl.edu	37	chr22	22314109	22314109	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggagcaccagctctgcatCtgcaagtgggcagggggcag	18	10	2	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:22314109C>G	ENST00000398793.2	-	15	2089		c.e15-1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCTCTGCATCTGCAAGTGGG	0.657																																																	0													91	78	83					22																	22314109		2203	4300	6503	SO:0001630	splice_region_variant	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1655-1G>C	22.37:g.22314109C>G			A0M8Q3|Q9BUP5	Splice_Site	SNP	-	e14-1	ENST00000398793.2	37	c.1655-1	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002571	0.74932	.	.	ENSG00000100038	ENST00000357179;ENST00000457270;ENST00000398793	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3B	20644109	1.000000	0.71417	0.996000	0.52242	0.579000	0.36224	7.288000	0.78691	2.733000	0.93635	0.563000	0.77884	.	TOP3B	-	-		0.657	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	C	NM_003935	Intron	22314109	-1	no_errors	ENST00000357179	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	22314109	C	G	22314109	5	3	147	1	0	0	0	0	0	0	1	0	16399	927	32	1	950	1	TOP3B	22	22314109	Splice_Site	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2861369	22314109	28990457	1104	24358										
RGL4	266747	genome.wustl.edu	37	chr22	24034903	24034903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cattaacaatgccggccctgGagccagcaccaccactgctg	9	16	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:24034903G>C	ENST00000290691.5	+	3	1591	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E5Q|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	141	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCCGGCCCTGGAGCCAGCACC	0.582																																																	0													38	42	41					22																	24034903		2203	4299	6502	SO:0001583	missense	266747				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.421G>C	22.37:g.24034903G>C	ENSP00000290691:p.Glu141Gln		Q495L8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.E141Q	ENST00000290691.5	37	c.421	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222089	0.39300	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.35421	1.31;1.37;1.37	2.36	0.115	0.14643	.	1.642900	0.04274	U	0.342710	T	0.43986	0.1272	L	0.29908	0.895	0.09310	N	1	P;P;D;D	0.69078	0.898;0.898;0.997;0.996	B;B;D;D	0.75484	0.425;0.425;0.986;0.955	T	0.28681	-1.0036	10	0.48119	T	0.1	.	3.5416	0.07814	0.1629:0.2658:0.5713:0.0	.	5;5;141;141	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	Q	5;141;141;141	ENSP00000383951:E5Q;ENSP00000290691:E141Q;ENSP00000402142:E141Q	ENSP00000290691:E141Q	E	+	1	0	RGL4	22364903	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.938000	0.03938	0.094000	0.17404	0.543000	0.68304	GAG	RGL4	-	NULL		0.582	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	G	NM_153615		24034903	1	no_errors	ENST00000290691	ensembl	human	known	70_37	missense	SNP	0.000	C	C	24034903	G	C	24034903	3	2	147	1	0	0	0	0	1	0	0	0	13309	1175	41	1	431	1	RGL4	22	24034903	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1720794	24034903	27269663	1105	24359										
MN1	4330	genome.wustl.edu	37	chr22	28146942	28146942	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aatgtcccaaatctgttggaGatgtcagaatgcagggaccg	12	8	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:28146942G>C	ENST00000302326.4	-	2	4878	c.3924C>G	c.(3922-3924)atC>atG	p.I1308M	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1308					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ATCTGTTGGAGATGTCAGAAT	0.587			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													71	80	77					22																	28146942		2033	4187	6220	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3924C>G	22.37:g.28146942G>C	ENSP00000304956:p.Ile1308Met		A9Z1V9	Missense_Mutation	SNP	NULL	p.I1308M	ENST00000302326.4	37	c.3924	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062814	0.55432	.	.	ENSG00000169184	ENST00000302326	T	0.54479	0.57	3.41	1.13	0.20643	.	0.000000	0.64402	D	0.000003	T	0.52741	0.1753	N	0.19112	0.55	0.37189	D	0.903859	D	0.76494	0.999	D	0.83275	0.996	T	0.58405	-0.7642	10	0.87932	D	0	-13.789	8.8394	0.35133	0.1776:0.0:0.8224:0.0	.	1308	Q10571	MN1_HUMAN	M	1308	ENSP00000304956:I1308M	ENSP00000304956:I1308M	I	-	3	3	MN1	26476942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.567000	0.45956	0.348000	0.23949	0.561000	0.74099	ATC	MN1	-	NULL		0.587	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28146942	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28146942	G	C	28146942	3	2	147	1	0	0	0	0	1	0	0	0	9696	932	33	1	42	1	MN1	22	28146942	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4112039	28146942	23157624	1106	24360										
CCDC117	150275	genome.wustl.edu	37	chr22	29169750	29169750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaagaaacacaagcgagagGaggaggaggatgatgagtaa	15	3	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:29169750G>C	ENST00000249064.4	+	2	399	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	CCDC117_ENST00000421503.2_Missense_Mutation_p.E75Q|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000443309.2_5'UTR	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	75										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CAAGCGAGAGGAGGAGGAGGA	0.378																																																	0													280	245	257					22																	29169750		2203	4300	6503	SO:0001583	missense	150275			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.223G>C	22.37:g.29169750G>C	ENSP00000249064:p.Glu75Gln		A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	NULL	p.E75Q	ENST00000249064.4	37	c.223	CCDS13846.1	22	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310081	0.23821	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.14266	2.52;2.52	5.24	4.19	0.49359	.	0.826585	0.09220	N	0.832051	T	0.21227	0.0511	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.55455	0.776;0.776	T	0.01162	-1.1432	10	0.48119	T	0.1	.	12.1386	0.53984	0.0:0.0:0.8221:0.1779	.	75;75	B7Z2V1;Q8IWD4	.;CC117_HUMAN	Q	75	ENSP00000249064:E75Q;ENSP00000387827:E75Q	ENSP00000249064:E75Q	E	+	1	0	CCDC117	27499750	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	3.503000	0.53340	1.270000	0.44297	0.561000	0.74099	GAG	CCDC117	-	NULL		0.378	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC117	HGNC	protein_coding	OTTHUMT00000321258.1	G	NM_173510		29169750	1	no_errors	ENST00000249064	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29169750	G	C	29169750	3	2	147	1	0	0	0	0	1	0	0	0	2759	1175	41	1	229	1	CCDC117	22	29169750	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1022808	29169750	22134816	1107	24361										
MTMR3	8897	genome.wustl.edu	37	chr22	30394787	30394787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggtttaaaaacgaggtggaGaggatgggttttgatatgaa	15	1	0	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:30394787G>A	ENST00000401950.2	+	8	840	c.498G>A	c.(496-498)gaG>gaA	p.E166E	MTMR3_ENST00000351488.3_Silent_p.E166E|MTMR3_ENST00000333027.3_Silent_p.E166E|MTMR3_ENST00000323630.5_Silent_p.E30E|MTMR3_ENST00000406629.1_Silent_p.E166E	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	166	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACGAGGTGGAGAGGATGGGTT	0.428																																																	0													120	106	111					22																	30394787		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.498G>A	22.37:g.30394787G>A			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E166	ENST00000401950.2	37	c.498	CCDS13870.1	22																																																																																			MTMR3	-	NULL		0.428	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	G	NM_021090		30394787	1	no_errors	ENST00000401950	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30394787	G	A	30394787	2	1	147	1	0	0	0	0	0	0	0	1	9968	933	33	1		1	MTMR3	22	30394787	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1225037	30394787	20909779	1108	24362										
SEC14L4	284904	genome.wustl.edu	37	chr22	30885864	30885864	+	3'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttctcattctcagccgcattCtctgggaacagggaaagagg	11	10	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:30885864C>G	ENST00000255858.7	-	0	1534				RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_3'UTR|SEC14L4_ENST00000392772.2_3'UTR|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Splice_Site_p.*361Y	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CAGCCGCATTCTCTGGGAACA	0.547																																																	0													160	136	143					22																	30885864		692	1591	2283	SO:0001624	3_prime_UTR_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.*230G>C	22.37:g.30885864C>G			A5D6W7|A6NCV4	Nonstop_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.*361Y	ENST00000255858.7	37	c.1083	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	C	1.727	-0.495158	0.04322	.	.	ENSG00000133488	ENST00000381982	.	.	.	2.46	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5328	0.16995	0.0:0.8368:0.0:0.1632	.	.	.	.	Y	361	.	.	X	-	3	2	SEC14L4	29215864	0.001000	0.12720	0.092000	0.20876	0.020000	0.10135	0.620000	0.24403	0.610000	0.30035	0.467000	0.42956	TAG	SEC14L4	-	NULL		0.547	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	C	NM_174977		30885864	-1	no_errors	ENST00000381982	ensembl	human	putative	70_37	nonstop	SNP	0.262	G	G	30885864	C	G	30885864	1	3	147	0	1	0	0	0	0	0	0	0	14014	927	32	1		1	SEC14L4	22	30885864	3'UTR	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	491077	30885864	20418702	1109	24363										
C22orf30	253143	genome.wustl.edu	37	chr22	32111360	32111360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaaatgcattttcatattttGttatcaaagagttatcaact	5	5	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:32111360G>C	ENST00000327423.6	-	4	2654	c.2465C>G	c.(2464-2466)aCa>aGa	p.T822R	PRR14L_ENST00000397493.2_Missense_Mutation_p.T822R|PRR14L_ENST00000434485.1_Missense_Mutation_p.T822R|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	822										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TTCATATTTTGTTATCAAAGA	0.408																																																	0													100	74	82					22																	32111360		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2465C>G	22.37:g.32111360G>C	ENSP00000331845:p.Thr822Arg		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.T822R	ENST00000327423.6	37	c.2465	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219007	0.39201	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06142	3.34;3.35;3.34	5.46	-4.21	0.03812	.	0.909847	0.09290	N	0.822471	T	0.04907	0.0132	L	0.53249	1.67	0.09310	N	1	B;B;B	0.19583	0.017;0.037;0.017	B;B;B	0.17433	0.018;0.018;0.018	T	0.46624	-0.9178	9	.	.	.	-0.045	0.3385	0.00329	0.2392:0.2376:0.1615:0.3617	.	822;822;822	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	R	822	ENSP00000380630:T822R;ENSP00000331845:T822R;ENSP00000388314:T822R	.	T	-	2	0	PRR14L	30441360	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.066000	0.14489	-0.225000	0.09913	-0.188000	0.12872	ACA	PRR14L	-	NULL		0.408	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32111360	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.000	C	C	32111360	G	C	32111360	3	2	147	1	0	0	0	0	1	0	0	0	2147	1377	48	4	4014	4	C22orf30	22	32111360	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1225496	32111360	19193206	1110	24364										
C22orf30	253143	genome.wustl.edu	37	chr22	32111816	32111816	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttgtttaaatgcagtagaGagtcagttggcaaatttgca	10	5	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:32111816G>C	ENST00000327423.6	-	4	2198	c.2009C>G	c.(2008-2010)tCt>tGt	p.S670C	PRR14L_ENST00000397493.2_Missense_Mutation_p.S670C|PRR14L_ENST00000434485.1_Missense_Mutation_p.S670C|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	670										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATGCAGTAGAGAGTCAGTTGG	0.403																																																	0													190	154	165					22																	32111816		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2009C>G	22.37:g.32111816G>C	ENSP00000331845:p.Ser670Cys		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.S670C	ENST00000327423.6	37	c.2009	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	5.911	0.352159	0.11182	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.09073	3.02;3.04;3.03	4.13	1.8	0.24995	.	0.339302	0.21254	N	0.077592	T	0.05502	0.0145	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26845	0.161;0.073;0.073	B;B;B	0.26770	0.043;0.043;0.073	T	0.38802	-0.9644	9	.	.	.	-0.1856	4.1352	0.10167	0.2391:0.191:0.5699:0.0	.	670;670;670	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	C	670	ENSP00000380630:S670C;ENSP00000331845:S670C;ENSP00000388314:S670C	.	S	-	2	0	PRR14L	30441816	0.001000	0.12720	0.008000	0.14137	0.019000	0.09904	0.544000	0.23253	0.213000	0.20722	-0.345000	0.07892	TCT	PRR14L	-	NULL		0.403	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32111816	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.006	C	C	32111816	G	C	32111816	3	2	147	1	0	0	0	0	1	0	0	0	2147	942	33	1	4470	1	C22orf30	22	32111816	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	456	32111816	19192750	1111	24365										
C22orf30	253143	genome.wustl.edu	37	chr22	32111844	32111844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tggcaaatttgcatgttcttGagaattaagggacacttgtt	10	5	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:32111844G>C	ENST00000327423.6	-	4	2170	c.1981C>G	c.(1981-1983)Caa>Gaa	p.Q661E	PRR14L_ENST00000397493.2_Missense_Mutation_p.Q661E|PRR14L_ENST00000434485.1_Missense_Mutation_p.Q661E|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	661										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCATGTTCTTGAGAATTAAGG	0.393																																																	0													204	166	178					22																	32111844		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1981C>G	22.37:g.32111844G>C	ENSP00000331845:p.Gln661Glu		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.Q661E	ENST00000327423.6	37	c.1981	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	4.864	0.160531	0.09287	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.05996	3.36;3.37;3.36	5.4	0.609	0.17575	.	1.648270	0.03126	N	0.164574	T	0.05914	0.0154	N	0.21448	0.665	0.18873	N	0.999987	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.12156	0.007;0.007;0.007	T	0.42015	-0.9476	9	.	.	.	3.0739	9.8229	0.40894	0.077:0.3951:0.5279:0.0	.	661;661;661	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	E	661	ENSP00000380630:Q661E;ENSP00000331845:Q661E;ENSP00000388314:Q661E	.	Q	-	1	0	PRR14L	30441844	0.688000	0.27680	0.692000	0.30179	0.390000	0.30446	0.360000	0.20250	0.290000	0.22444	0.655000	0.94253	CAA	PRR14L	-	NULL		0.393	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32111844	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.320	C	C	32111844	G	C	32111844	3	2	147	1	0	0	0	0	1	0	0	0	2147	1299	45	1	4498	1	C22orf30	22	32111844	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	28	32111844	19192722	1112	24366										
LARGE	9215	genome.wustl.edu	37	chr22	33733679	33733679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggggcagccaaacagttcccGcctcagaagattgccgtcat	11	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:33733679G>A	ENST00000354992.2	-	11	1811	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	LARGE_ENST00000452586.2_Missense_Mutation_p.R213W|LARGE_ENST00000397394.2_Missense_Mutation_p.R414W|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000437602.2_Missense_Mutation_p.R414W|LARGE_ENST00000402320.1_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	414					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AACAGTTCCCGCCTCAGAAGA	0.552																																					Colon(70;397 1175 4573 19089 45288)												0													78	69	72					22																	33733679		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1240C>T	22.37:g.33733679G>A	ENSP00000347088:p.Arg414Trp		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R414W	ENST00000354992.2	37	c.1240	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699250	0.68501	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000397394;ENST00000452586;ENST00000437602	T;T;T;T	0.57107	0.94;0.94;0.53;0.42	5.08	5.08	0.68730	.	0.062120	0.64402	D	0.000003	T	0.74230	0.3689	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.81914	0.995;0.976;0.945	T	0.78324	-0.2248	10	0.87932	D	0	-0.0154	18.5005	0.90879	0.0:0.0:1.0:0.0	.	414;213;414	B7Z2I9;E9PH73;O95461	.;.;LARGE_HUMAN	W	91;91;91;414;414;213;414	ENSP00000347088:R414W;ENSP00000380549:R414W;ENSP00000407917:R213W;ENSP00000388544:R414W	ENSP00000347088:R414W	R	-	1	2	LARGE	32063679	0.981000	0.34729	0.998000	0.56505	0.160000	0.22226	1.836000	0.39191	2.367000	0.80283	0.561000	0.74099	CGG	LARGE	-	NULL		0.552	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	G	NM_133642		33733679	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33733679	G	A	33733679	3	1	147	1	0	0	0	0	1	0	0	0	8647	1086	38	2	1054	2	LARGE	22	33733679	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1621835	33733679	17570887	1113	24367										
RAC2	5880	genome.wustl.edu	37	chr22	37622806	37622806	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacacggttttcaggcctctCtgggtgagagctgagcactc	12	11	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:37622806C>G	ENST00000249071.6	-	6	607	c.486G>C	c.(484-486)caG>caC	p.Q162H	RAC2_ENST00000405484.1_Missense_Mutation_p.Q155H|RAC2_ENST00000406508.1_Missense_Mutation_p.Q118H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	162					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TCAGGCCTCTCTGGGTGAGAG	0.637																																																	0													56	64	61					22																	37622806		2203	4299	6502	SO:0001583	missense	5880			M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"Endogenous ligands"	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.486G>C	22.37:g.37622806C>G	ENSP00000249071:p.Gln162His		Q9UDJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q162H	ENST00000249071.6	37	c.486	CCDS13945.1	22	.	.	.	.	.	.	.	.	.	.	c	16.47	3.133223	0.56828	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.88	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.93854	3.465	0.80722	D	1	P	0.36199	0.543	P	0.51355	0.667	D	0.83690	0.0176	10	0.87932	D	0	.	7.5948	0.28041	0.0:0.7572:0.0:0.2428	.	162	P15153	RAC2_HUMAN	H	162;118;155;162	ENSP00000249071:Q162H;ENSP00000385270:Q118H;ENSP00000385590:Q155H;ENSP00000403778:Q162H	ENSP00000249071:Q162H	Q	-	3	2	RAC2	35952752	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	2.215000	0.42862	2.250000	0.74265	0.556000	0.70494	CAG	RAC2	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase		0.637	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAC2	HGNC	protein_coding	OTTHUMT00000318812.1	C			37622806	-1	no_errors	ENST00000249071	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37622806	C	G	37622806	3	3	147	1	0	0	0	0	1	0	0	0	13005	912	32	1	96	1	RAC2	22	37622806	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3889127	37622806	13681760	1114	24368										
ELFN2	114794	genome.wustl.edu	37	chr22	37769910	37769910	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaagaggccgagtccagcttGagagcatcgatgcagttgtt	13	8	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:37769910G>C	ENST00000402918.2	-	3	2450	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	555					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTCCAGCTTGAGAGCATCGA	0.622																																																	0													74	70	71					22																	37769910		2203	4300	6503	SO:0001819	synonymous_variant	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1665C>G	22.37:g.37769910G>C			Q96PY3	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.L555	ENST00000402918.2	37	c.1665	CCDS33642.1	22																																																																																			ELFN2	-	NULL		0.622	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	G	NM_052906		37769910	-1	no_errors	ENST00000349653	ensembl	human	known	70_37	silent	SNP	1.000	C	C	37769910	G	C	37769910	2	2	147	1	0	0	0	0	0	0	0	1	5070	1277	45	1		1	ELFN2	22	37769910	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	147104	37769910	13534656	1115	24369										
ELFN2	114794	genome.wustl.edu	37	chr22	37771487	37771487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagccacacgtagcccttgtCgccctcaatgagccagcagt	9	16	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:37771487C>T	ENST00000402918.2	-	3	873	c.88G>A	c.(88-90)Gac>Aac	p.D30N	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	30					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGCCCTTGTCGCCCTCAATG	0.692																																																	0													103	97	99					22																	37771487		2202	4299	6501	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.88G>A	22.37:g.37771487C>T	ENSP00000385277:p.Asp30Asn		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.D30N	ENST00000402918.2	37	c.88	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289872	0.80914	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.53423	0.62;0.62	4.94	4.94	0.65067	.	0.054461	0.64402	D	0.000001	T	0.57799	0.2078	L	0.39245	1.2	0.58432	D	0.99999	D	0.71674	0.998	P	0.59357	0.856	T	0.60687	-0.7214	10	0.56958	D	0.05	-34.6549	18.1325	0.89606	0.0:1.0:0.0:0.0	.	30	Q5R3F8	PPR29_HUMAN	N	30	ENSP00000300147:D30N;ENSP00000385277:D30N	ENSP00000300147:D30N	D	-	1	0	ELFN2	36101433	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.692000	0.84203	2.274000	0.75844	0.462000	0.41574	GAC	ELFN2	-	NULL		0.692	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	C	NM_052906		37771487	-1	no_errors	ENST00000349653	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37771487	C	T	37771487	3	4	147	1	0	0	0	0	1	0	0	0	5070	884	31	1	2378	1	ELFN2	22	37771487	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1577	37771487	13533079	1116	24370										
SH3BP1	23616	genome.wustl.edu	37	chr22	38046671	38046671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccccagccaccaccccggctCcggctccggctccagctcca	8	24	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38046671C>A	ENST00000357436.4	+	16	1850	c.1537C>A	c.(1537-1539)Ccg>Acg	p.P513T	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.P449T	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	513					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					caccccggctccggctccggc	0.642																																																	0													29	32	31					22																	38046671		2203	4299	6502	SO:0001583	missense	23616				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1537C>A	22.37:g.38046671C>A	ENSP00000350018:p.Pro513Thr		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P513T	ENST00000357436.4	37	c.1537	CCDS13952.2	22	.	.	.	.	.	.	.	.	.	.	C	7.810	0.715528	0.15306	.	.	ENSG00000100092	ENST00000357436;ENST00000397014	T	0.17213	2.29	3.12	2.05	0.26809	.	422.883000	0.00447	N	0.000086	T	0.13072	0.0317	L	0.29908	0.895	0.19575	N	0.999962	P;B;B;P	0.38922	0.651;0.421;0.213;0.651	B;B;B;B	0.29785	0.107;0.059;0.031;0.107	T	0.31806	-0.9930	10	0.27785	T	0.31	.	9.6862	0.40100	0.0:0.7854:0.2146:0.0	.	427;449;513;427	E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;3BP1_HUMAN;.	T	513;427	ENSP00000350018:P513T	ENSP00000350018:P513T	P	+	1	0	SH3BP1	36376617	0.871000	0.30034	0.056000	0.19401	0.013000	0.08279	4.259000	0.58828	0.833000	0.34828	0.655000	0.94253	CCG	SH3BP1	-	NULL		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	C	NM_018957		38046671	1	no_errors	ENST00000357436	ensembl	human	known	70_37	missense	SNP	0.059	A	A	38046671	C	A	38046671	3	1	147	1	0	0	0	0	1	0	0	0	14274	855	30	3	1599	3	SH3BP1	22	38046671	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	275184	38046671	13257895	1117	24371										
GCAT	23464	genome.wustl.edu	37	chr22	38211201	38211201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggcgacatcgcacccctgcaGgagatctgctgcctcgcctc	11	17	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38211201G>T	ENST00000248924.6	+	5	701	c.645G>T	c.(643-645)caG>caT	p.Q215H	GCAT_ENST00000323205.6_Missense_Mutation_p.Q241H	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	215					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CACCCCTGCAGGAGATCTGCT	0.607																																																	0													59	51	54					22																	38211201		2203	4300	6503	SO:0001583	missense	23464			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.645G>T	22.37:g.38211201G>T	ENSP00000248924:p.Gln215His		E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.Q215H	ENST00000248924.6	37	c.645	CCDS13957.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.898255|1.898255	0.33535|0.33535	.|.	.|.	ENSG00000100116|ENSG00000100116	ENST00000394944|ENST00000323205;ENST00000248924	.|D;D	.|0.95205	.|-3.64;-3.64	4.68|4.68	1.29|1.29	0.21616|0.21616	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.477343	.|0.20339	.|N	.|0.094267	.|D	.|0.88040	.|0.6330	L|L	0.28458|0.28458	0.855|0.855	0.37727|0.37727	D|D	0.925129|0.925129	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.10450	.|0.005;0.003	.|T	.|0.80219	.|-0.1473	.|10	0.19590|0.59425	T|D	0.45|0.04	-13.0799|-13.0799	5.396|5.396	0.16268|0.16268	0.253:0.1423:0.6047:0.0|0.253:0.1423:0.6047:0.0	.|.	.|241;215	.|E2QC23;O75600	.|.;KBL_HUMAN	X|H	241|241;215	.|ENSP00000371110:Q241H;ENSP00000248924:Q215H	ENSP00000438043:G241X|ENSP00000248924:Q215H	G|Q	+|+	1|3	0|2	GCAT|GCAT	36541147|36541147	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.934000|0.934000	0.57294|0.57294	1.240000|1.240000	0.32731|0.32731	0.166000|0.166000	0.19597|0.19597	-0.367000|-0.367000	0.07326|0.07326	GGA|CAG	GCAT	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase		0.607	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2		38211201	1	no_errors	ENST00000248924	ensembl	human	known	70_37	missense	SNP	0.940	T	T	38211201	G	T	38211201	3	4	147	1	0	0	0	0	1	0	0	0	6303	991	35	4	741	4	GCAT	22	38211201	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	164530	38211201	13093365	1118	24372										
GCAT	23464	genome.wustl.edu	37	chr22	38211283	38211283	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctggcttcctggggcccacaGgacggtgggaccatgtggca	16	12	0	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38211283G>C	ENST00000248924.6	+	5	783	c.727G>C	c.(727-729)Gga>Cga	p.G243R	GCAT_ENST00000323205.6_Missense_Mutation_p.G269R	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	243					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGGGCCCACAGGACGGTGGGA	0.627																																																	0													31	28	29					22																	38211283		2202	4300	6502	SO:0001583	missense	23464			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.727G>C	22.37:g.38211283G>C	ENSP00000248924:p.Gly243Arg		E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.G243R	ENST00000248924.6	37	c.727	CCDS13957.1	22	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506639	0.85282	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.97941	-4.62;-4.62	4.68	4.68	0.58851	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	H	0.95402	3.665	0.80722	D	1	P;D	0.60575	0.931;0.988	P;D	0.66602	0.905;0.945	D	0.99334	1.0910	10	0.87932	D	0	-2.4557	17.778	0.88515	0.0:0.0:1.0:0.0	.	269;243	E2QC23;O75600	.;KBL_HUMAN	R	269;243	ENSP00000371110:G269R;ENSP00000248924:G243R	ENSP00000248924:G243R	G	+	1	0	GCAT	36541229	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.437000	0.90302	2.440000	0.82611	0.561000	0.74099	GGA	GCAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase		0.627	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2		38211283	1	no_errors	ENST00000248924	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38211283	G	C	38211283	3	2	147	1	0	0	0	0	1	0	0	0	6303	1001	35	4	823	4	GCAT	22	38211283	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	82	38211283	13093283	1119	24373										
ANKRD54	129138	genome.wustl.edu	37	chr22	38228006	38228006	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggaggtgaagctggccaggaGgtcagtcacttcatccacct	13	11	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38228006G>C	ENST00000215941.4	-	8	1039	c.847C>G	c.(847-849)Ctc>Gtc	p.L283V	ANKRD54_ENST00000411961.2_Missense_Mutation_p.L267V|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.L163V|ANKRD54_ENST00000609454.1_Missense_Mutation_p.L90V	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	283	Nuclear export signal (NES). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CTGGCCAGGAGGTCAGTCACT	0.612																																																	0													80	59	66					22																	38228006		2203	4300	6503	SO:0001583	missense	129138			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"Ankyrin repeat domain containing"	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.847C>G	22.37:g.38228006G>C	ENSP00000215941:p.Leu283Val		Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L283V	ENST00000215941.4	37	c.847	CCDS13959.1	22	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813838	0.70912	.	.	ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961	T;T;T	0.74209	-0.7;-0.4;-0.82	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	L	0.29908	0.895	0.58432	D	0.999999	P;D	0.63880	0.948;0.993	B;D	0.76071	0.36;0.987	T	0.82663	-0.0346	10	0.87932	D	0	-0.1796	20.1054	0.97890	0.0:0.0:1.0:0.0	.	163;283	B5MCX7;Q6NXT1	.;ANR54_HUMAN	V	283;163;267	ENSP00000215941:L283V;ENSP00000384392:L163V;ENSP00000405782:L267V	ENSP00000215941:L283V	L	-	1	0	ANKRD54	36557952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.331000	0.72929	2.757000	0.94681	0.655000	0.94253	CTC	ANKRD54	-	NULL		0.612	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1	G	NM_138797		38228006	-1	no_errors	ENST00000215941	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38228006	G	C	38228006	3	2	147	1	0	0	0	0	1	0	0	0	680	1000	35	4	59	4	ANKRD54	22	38228006	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	16723	38228006	13076560	1120	24374										
CACNA1I	8911	genome.wustl.edu	37	chr22	40059831	40059831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gccctggagcggcctcagatCgaggccggcagcaccgtgag	16	14	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:40059831C>G	ENST00000402142.3	+	19	3582	c.3582C>G	c.(3580-3582)atC>atG	p.I1194M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1159M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1159M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I1200M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1194M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1159M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1194					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCTCAGATCGAGGCCGGCA	0.622																																																	0													97	107	104					22																	40059831		2037	4182	6219	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3582C>G	22.37:g.40059831C>G	ENSP00000385019:p.Ile1194Met		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.I1200M	ENST00000402142.3	37	c.3600	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507695	0.27036	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.4	-10.8	0.00216	.	0.098514	0.64402	D	0.000004	D	0.97848	0.9293	M	0.89904	3.07	0.26822	N	0.968775	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.999;0.955	D	0.98027	1.0374	10	0.87932	D	0	.	14.4623	0.67459	0.1964:0.0843:0.0:0.7192	.	1159;1194;1159;1194	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	1194;1159;1194;1159;1200;1159	ENSP00000385019:I1194M;ENSP00000384093:I1159M;ENSP00000383887:I1194M;ENSP00000385680:I1159M;ENSP00000337829:I1200M;ENSP00000383028:I1159M	ENSP00000337829:I1200M	I	+	3	3	CACNA1I	38389777	0.000000	0.05858	0.090000	0.20809	0.283000	0.27025	-2.883000	0.00714	-2.970000	0.00286	-1.268000	0.01426	ATC	CACNA1I	-	NULL		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40059831	1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	0.001	G	G	40059831	C	G	40059831	3	3	147	1	0	0	0	0	1	0	0	0	2551	874	31	1	3656	1	CACNA1I	22	40059831	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1831825	40059831	11244735	1121	24375										
SEPT3	55964	genome.wustl.edu	37	chr22	42385672	42385672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	catgaccctggaggagaagtCtgaattcaagcaaagggtga	13	7	2	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:42385672C>G	ENST00000396426.3	+	6	908	c.653C>G	c.(652-654)tCt>tGt	p.S218C	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396425.3_Missense_Mutation_p.S218C|SEPT3_ENST00000406029.1_Missense_Mutation_p.S154C|SEPT3_ENST00000291236.11_Missense_Mutation_p.S154C	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	218	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GAGGAGAAGTCTGAATTCAAG	0.517																																																	0													144	118	127					22																	42385672		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.653C>G	22.37:g.42385672C>G	ENSP00000379704:p.Ser218Cys		B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.S218C	ENST00000396426.3	37	c.653	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209098	0.39003	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.21	3.1	0.35709	.	0.290655	0.36234	N	0.002703	T	0.41719	0.1171	L	0.32530	0.975	0.58432	D	0.999996	B;B;B;B	0.32425	0.371;0.002;0.115;0.371	B;B;B;P	0.44597	0.248;0.021;0.16;0.454	T	0.20405	-1.0276	9	.	.	.	.	8.1703	0.31252	0.0:0.7271:0.1372:0.1357	.	154;154;218;218	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	C	218;154;218;154	ENSP00000379704:S218C;ENSP00000383956:S154C;ENSP00000379703:S218C;ENSP00000291236:S154C	.	S	+	2	0	SEPT3	40715618	0.004000	0.15560	0.998000	0.56505	0.994000	0.84299	0.113000	0.15499	1.337000	0.45525	-0.150000	0.13652	TCT	SEPT3	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.517	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	C	NM_145734		42385672	1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	0.738	G	G	42385672	C	G	42385672	3	3	147	1	0	0	0	0	1	0	0	0	14095	913	32	1	675	1	SEPT3	22	42385672	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2325841	42385672	8918894	1122	24376										
SULT4A1	25830	genome.wustl.edu	37	chr22	44225002	44225002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccagctggtggcagtgctccGtcagggcttccagctgggcc	15	14	1	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:44225002G>A	ENST00000330884.4	-	6	800	c.680C>T	c.(679-681)aCg>aTg	p.T227M	SULT4A1_ENST00000540422.1_Missense_Mutation_p.T114M|SULT4A1_ENST00000249130.5_Missense_Mutation_p.T227M	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GCAGTGCTCCGTCAGGGCTTC	0.677											OREG0026620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21	18	19					22																	44225002		2193	4275	6468	SO:0001583	missense	25830			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.680C>T	22.37:g.44225002G>A	ENSP00000332565:p.Thr227Met	922	B2R7N3|O43728	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.T227M	ENST00000330884.4	37	c.680	CCDS14051.1	22	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842105	0.32513	.	.	ENSG00000130540	ENST00000330884;ENST00000540422;ENST00000249130	D;D;D	0.82255	-1.59;-1.59;-1.59	5.05	-7.92	0.01160	Sulfotransferase domain (1);	0.618943	0.16263	N	0.222124	T	0.67002	0.2847	L	0.34521	1.04	0.09310	N	1	B;B	0.32717	0.381;0.311	B;B	0.29267	0.1;0.079	T	0.55328	-0.8158	10	0.59425	D	0.04	.	10.4157	0.44320	0.3552:0.1115:0.5334:0.0	.	114;227	B7Z2E1;Q9BR01	.;ST4A1_HUMAN	M	227;114;227	ENSP00000332565:T227M;ENSP00000439141:T114M;ENSP00000249130:T227M	ENSP00000249130:T227M	T	-	2	0	SULT4A1	42556335	0.220000	0.23631	0.001000	0.08648	0.467000	0.32768	0.926000	0.28804	-1.770000	0.01295	-0.218000	0.12543	ACG	SULT4A1	-	pfam_Sulfotransferase_dom		0.677	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	G	NM_014351		44225002	-1	no_errors	ENST00000330884	ensembl	human	known	70_37	missense	SNP	0.037	A	A	44225002	G	A	44225002	3	1	147	1	0	0	0	0	1	0	0	0	15413	1145	40	2	182	2	SULT4A1	22	44225002	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1839330	44225002	7079564	1123	24377										
PARVB	29780	genome.wustl.edu	37	chr22	44547423	44547423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atttggaggtgacggaactgGagacccaggtatgtgctgct	15	7	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:44547423G>A	ENST00000338758.7	+	10	898	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PARVB_ENST00000406477.3_Missense_Mutation_p.E312K|PARVB_ENST00000404989.1_Missense_Mutation_p.E242K	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	279	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GACGGAACTGGAGACCCAGGT	0.507																																																	0													141	116	124					22																	44547423		2203	4300	6503	SO:0001583	missense	29780			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.835G>A	22.37:g.44547423G>A	ENSP00000342492:p.Glu279Lys		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E312K	ENST00000338758.7	37	c.934	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031331	0.93575	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.58358	0.34;0.34;0.34	5.19	5.19	0.71726	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.82056	2.57	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.996	D;D;D	0.71656	0.935;0.974;0.952	T	0.77648	-0.2509	10	0.72032	D	0.01	-27.1467	16.1844	0.81939	0.0:0.0:1.0:0.0	.	242;279;312	B0QYM8;Q9HBI1;Q9HBI1-2	.;PARVB_HUMAN;.	K	312;279;242	ENSP00000384515:E312K;ENSP00000342492:E279K;ENSP00000384353:E242K	ENSP00000342492:E279K	E	+	1	0	PARVB	42878756	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.077000	0.94016	2.387000	0.81309	0.609000	0.83330	GAG	PARVB	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.507	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2	G	NM_001003828		44547423	1	no_errors	ENST00000406477	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44547423	G	A	44547423	3	1	147	1	0	0	0	0	1	0	0	0	11493	1175	41	1	1092	1	PARVB	22	44547423	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	322421	44547423	6757143	1124	24378										
WNT7B	7477	genome.wustl.edu	37	chr22	46319212	46319212	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagctgcatccggtcctctaGaacctgcgggtgacagggaa	13	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:46319212G>C	ENST00000339464.4	-	4	948	c.574C>G	c.(574-576)Cta>Gta	p.L192V	WNT7B_ENST00000409496.3_Missense_Mutation_p.L196V|WNT7B_ENST00000410089.1_Missense_Mutation_p.L176V	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	192					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCCTCTAGAACCTGCGGG	0.662																																																	0													33	30	31					22																	46319212		2203	4299	6502	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.574C>G	22.37:g.46319212G>C	ENSP00000341032:p.Leu192Val		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.L192V	ENST00000339464.4	37	c.574	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	0.235	-1.018055	0.02078	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	T;T;T	0.71341	-0.56;-0.56;-0.56	3.33	3.33	0.38152	.	0.000000	0.64402	U	0.000012	T	0.46190	0.1380	N	0.04043	-0.29	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.28849	0.095;0.057	T	0.44467	-0.9326	10	0.02654	T	1	.	13.991	0.64367	0.0:0.0:1.0:0.0	.	196;192	A8K0G1;P56706	.;WNT7B_HUMAN	V	192;176;196	ENSP00000341032:L192V;ENSP00000386781:L176V;ENSP00000386546:L196V	ENSP00000341032:L192V	L	-	1	2	WNT7B	44697876	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	5.338000	0.65947	1.579000	0.49836	0.305000	0.20034	CTA	WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt7		0.662	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	G	NM_058238		46319212	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46319212	G	C	46319212	3	2	147	1	0	0	0	0	1	0	0	0	17426	933	33	1	479	1	WNT7B	22	46319212	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1771789	46319212	4985354	1125	24379										
ZBED4	9889	genome.wustl.edu	37	chr22	50279300	50279300	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaatcacaagtctcatagctGaaatgattgcacttgacctc	6	10	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:50279300G>A	ENST00000216268.5	+	2	2467	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	664						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCATAGCTGAAATGATTGC	0.458																																																	0													79	83	81					22																	50279300		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1990G>A	22.37:g.50279300G>A	ENSP00000216268:p.Glu664Lys		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.E664K	ENST00000216268.5	37	c.1990	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912804	0.92178	.	.	ENSG00000100426	ENST00000216268	T	0.41758	0.99	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67772	-0.5584	10	0.33940	T	0.23	-26.4673	19.0818	0.93186	0.0:0.0:1.0:0.0	.	664	O75132	ZBED4_HUMAN	K	664	ENSP00000216268:E664K	ENSP00000216268:E664K	E	+	1	0	ZBED4	48665304	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	9.312000	0.96287	2.492000	0.84095	0.655000	0.94253	GAA	ZBED4	-	NULL		0.458	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	G	NM_014838		50279300	1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50279300	G	A	50279300	3	1	147	1	0	0	0	0	1	0	0	0	17550	1291	45	1	1992	1	ZBED4	22	50279300	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3960088	50279300	1025266	1126	24380										
VCX3A	51481	genome.wustl.edu	37	chrX	6451978	6451978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acctggctctcctgactcagTggttcttccacctcgctctc	7	17	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:6451978T>C	ENST00000381089.3	-	3	675	c.369A>G	c.(367-369)ccA>ccG	p.P123P	VCX3A_ENST00000398729.1_Intron	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	123	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|lung(2)|pancreas(1)	4						CCTGACTCAGTGGTTCTTCCA	0.622																																																	0													10	11	11					X																	6451978		1731	3573	5304	SO:0001819	synonymous_variant	51481			AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"variable charge, X-linked 3"	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.369A>G	X.37:g.6451978T>C			Q9P0H4	Silent	SNP	NULL	p.P123	ENST00000381089.3	37	c.369	CCDS35199.1	X																																																																																			VCX3A	-	NULL		0.622	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX3A	HGNC	protein_coding	OTTHUMT00000055679.1	T	NM_016379		6451978	-1	no_errors	ENST00000381089	ensembl	human	known	70_37	silent	SNP	0.001	C	C	6451978	T	C	6451978	2	2	147	1	0	0	0	0	0	0	0	1	17175	1683	59	5		5	VCX3A	23	6451978	Silent	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09		6451978	148818582	1127	24381										
RBBP7	5931	genome.wustl.edu	37	chrX	16870688	16870688	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	acatacctggaaaatttcatCtttatgagattcgaaggtat	7	6	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:16870688C>T	ENST00000380087.2	-	8	1309	c.949G>A	c.(949-951)Gat>Aat	p.D317N	RBBP7_ENST00000380084.4_Missense_Mutation_p.D361N|RBBP7_ENST00000404022.1_Missense_Mutation_p.D308N			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	317					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AAAATTTCATCTTTATGAGAT	0.368																																																	0													65	60	62					X																	16870688		2203	4300	6503	SO:0001583	missense	5931			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.949G>A	X.37:g.16870688C>T	ENSP00000369427:p.Asp317Asn		Q5JP00	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D317N	ENST00000380087.2	37	c.949	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112953	0.77210	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	N	0.25332	0.735	0.80722	D	1	B;B;B	0.13145	0.007;0.006;0.005	B;B;B	0.22601	0.029;0.04;0.026	T	0.44862	-0.9300	10	0.59425	D	0.04	-0.3291	17.6398	0.88132	0.0:1.0:0.0:0.0	.	308;317;361	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	N	317;361;308;121	ENSP00000369427:D317N;ENSP00000369424:D361N;ENSP00000386068:D308N;ENSP00000402796:D121N	ENSP00000369424:D361N	D	-	1	0	RBBP7	16780609	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.772000	0.85439	2.469000	0.83416	0.594000	0.82650	GAT	RBBP7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.368	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	HGNC	protein_coding	OTTHUMT00000055920.2	C	NM_002893		16870688	-1	no_errors	ENST00000380087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16870688	C	T	16870688	3	4	147	1	0	0	0	0	1	0	0	0	13134	913	32	1	348	1	RBBP7	23	16870688	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	10418710	16870688	138399872	1128	24382										
NHS	4810	genome.wustl.edu	37	chrX	17710460	17710460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttttctccttctcagaacacCggagccggagcgatcgccga	10	14	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:17710460C>T	ENST00000380060.3	+	3	1062	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	NHS_ENST00000398097.3_Missense_Mutation_p.R65W	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	242	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTCAGAACACCGGAGCCGGAG	0.512																																																	0													68	66	67					X																	17710460		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.724C>T	X.37:g.17710460C>T	ENSP00000369400:p.Arg242Trp		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.R242W	ENST00000380060.3	37	c.724	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093548	0.76756	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48522	0.82;0.81	5.55	5.55	0.83447	.	0.065506	0.64402	D	0.000010	T	0.56834	0.2012	L	0.60455	1.87	0.47374	D	0.999408	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.56700	0.804;0.804;0.804;0.804	T	0.59695	-0.7406	10	0.66056	D	0.02	-12.6446	10.6025	0.45375	0.0:0.9102:0.0:0.0898	.	242;63;65;242	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	W	242;65;63	ENSP00000369400:R242W;ENSP00000381170:R65W	ENSP00000369397:R63W	R	+	1	2	NHS	17620381	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.709000	0.54853	2.562000	0.86427	0.600000	0.82982	CGG	NHS	-	NULL		0.512	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17710460	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.997	T	T	17710460	C	T	17710460	3	4	147	1	0	0	0	0	1	0	0	0	10435	643	23	2	772	2	NHS	23	17710460	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	839772	17710460	137560100	1129	24383										
ZFX	7543	genome.wustl.edu	37	chrX	24229099	24229099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	taaaggctttcacaggccttCagaactcaagaaacacgtgg	9	10	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:24229099C>T	ENST00000379177.1	+	11	2451	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	ZFX_ENST00000539115.1_Missense_Mutation_p.S446L|ZFX_ENST00000379188.3_Missense_Mutation_p.S675L|ZFX_ENST00000304543.5_Missense_Mutation_p.S675L|ZFX_ENST00000540034.1_Missense_Mutation_p.S714L|ZFX_ENST00000338565.3_Missense_Mutation_p.S625L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	675					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAGGCCTTCAGAACTCAAG	0.423																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													114	103	107					X																	24229099		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2024C>T	X.37:g.24229099C>T	ENSP00000368475:p.Ser675Leu		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S714L	ENST00000379177.1	37	c.2141	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794849	0.70452	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000033	T	0.41073	0.1143	L	0.61218	1.895	0.58432	D	0.999999	D;D;D	0.89917	0.995;1.0;0.985	D;D;D	0.91635	0.992;0.999;0.979	T	0.36335	-0.9752	10	0.87932	D	0	-15.1166	17.2852	0.87139	0.0:1.0:0.0:0.0	.	714;397;675	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	L	446;675;397;675;675;714;625	ENSP00000438233:S446L;ENSP00000368486:S675L;ENSP00000368475:S675L;ENSP00000304985:S675L;ENSP00000441382:S714L;ENSP00000343384:S625L	ENSP00000304985:S675L	S	+	2	0	ZFX	24139020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.091000	0.63221	0.594000	0.82650	TCA	ZFX	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	C	NM_003410		24229099	1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24229099	C	T	24229099	3	4	147	1	0	0	0	0	1	0	0	0	17691	838	29	1	2109	1	ZFX	23	24229099	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6518639	24229099	131041461	1130	24384										
FAM47B	170062	genome.wustl.edu	37	chrX	34962239	34962239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gcccggagcctaccaagaccGgagcgtcccatctaaaagaa	10	14	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:34962239G>A	ENST00000329357.5	+	1	1327	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	431										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TACCAAGACCGGAGCGTCCCA	0.537																																																	0													79	73	75					X																	34962239		2202	4300	6502	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1291G>A	X.37:g.34962239G>A	ENSP00000328307:p.Gly431Arg		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.G431R	ENST00000329357.5	37	c.1291	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304622	0.01353	.	.	ENSG00000189132	ENST00000329357	T	0.11169	2.8	0.489	-0.583	0.11706	.	.	.	.	.	T	0.04227	0.0117	N	0.13098	0.295	0.09310	N	1	B	0.29627	0.252	B	0.21708	0.036	T	0.44452	-0.9327	8	0.10377	T	0.69	.	.	.	.	.	431	Q8NA70	FA47B_HUMAN	R	431	ENSP00000328307:G431R	ENSP00000328307:G431R	G	+	1	0	FAM47B	34872160	0.187000	0.23238	0.001000	0.08648	0.022000	0.10575	1.271000	0.33098	-0.407000	0.07576	0.190000	0.17370	GGA	FAM47B	-	NULL		0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	G	NM_152631		34962239	1	no_errors	ENST00000329357	ensembl	human	known	70_37	missense	SNP	0.001	A	A	34962239	G	A	34962239	3	1	147	1	0	0	0	0	1	0	0	0	5588	1117	39	2	1293	2	FAM47B	23	34962239	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	10733140	34962239	120308321	1131	24385										
FAM47C	442444	genome.wustl.edu	37	chrX	37028026	37028026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctcatctccgcccagagcctTctgagactggagtgtcccat	9	15	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:37028026T>C	ENST00000358047.3	+	1	1595	c.1543T>C	c.(1543-1545)Tct>Cct	p.S515P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	515										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTTCTGAGACTGG	0.612																																																	0													85	82	83					X																	37028026		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1543T>C	X.37:g.37028026T>C	ENSP00000367913:p.Ser515Pro		Q6ZU46	Missense_Mutation	SNP	NULL	p.S515P	ENST00000358047.3	37	c.1543	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.341336	0.01277	.	.	ENSG00000198173	ENST00000358047	T	0.07327	3.2	0.993	-1.99	0.07457	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41161	-0.9524	9	0.02654	T	1	.	2.8379	0.05520	0.2105:0.4234:0.0:0.3661	.	515	Q5HY64	FA47C_HUMAN	P	515	ENSP00000367913:S515P	ENSP00000367913:S515P	S	+	1	0	FAM47C	36937947	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.092000	0.01354	-1.920000	0.01069	-0.706000	0.03657	TCT	FAM47C	-	NULL		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	T	NM_001013736		37028026	1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.002	C	C	37028026	T	C	37028026	3	2	147	1	0	0	0	0	1	0	0	0	5589	1783	62	5	1545	5	FAM47C	23	37028026	Missense_Mutation	SNP	T	TCGA-IR-A3LA-01A-11D-A22X-09	2065787	37028026	118242534	1132	24386										
RPGR	6103	genome.wustl.edu	37	chrX	38146372	38146372	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctttgtctgtaaggtcatctGataggatctctgttttctcc	8	9	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:38146372G>C	ENST00000339363.3	-	14	2662	c.2495C>G	c.(2494-2496)tCa>tGa	p.S832*	RPGR_ENST00000309513.3_Nonsense_Mutation_p.S565*|RPGR_ENST00000342811.3_Nonsense_Mutation_p.S627*|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000378505.2_Nonsense_Mutation_p.S627*|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Nonsense_Mutation_p.S627*			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	832	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AAGGTCATCTGATAGGATCTC	0.468																																																	0													251	172	199					X																	38146372		2202	4300	6502	SO:0001587	stop_gained	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2495C>G	X.37:g.38146372G>C	ENSP00000343671:p.Ser832*		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S627*	ENST00000339363.3	37	c.1880		X	.	.	.	.	.	.	.	.	.	.	g	35	5.474034	0.96291	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	.	.	.	2.64	1.74	0.24563	.	0.921754	0.08749	U	0.899395	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	8.3534	0.32316	0.0:0.0:0.5839:0.416	.	.	.	.	X	832;565;627;627;627	.	ENSP00000308783:S565X	S	-	2	0	RPGR	38031316	0.971000	0.33674	0.266000	0.24541	0.184000	0.23303	1.399000	0.34566	0.340000	0.23745	-0.512000	0.04463	TCA	RPGR	-	NULL		0.468	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38146372	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	nonsense	SNP	0.153	C	C	38146372	G	C	38146372	4	2	147	1	0	0	0	0	0	1	0	0	13578	1294	45	1	2141	1	RPGR	23	38146372	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1118346	38146372	117124188	1133	24387										
EFHC2	80258	genome.wustl.edu	37	chrX	44101443	44101443	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatgcagttacggagagaatCctcttcagaaccaaaaccgt	8	10	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:44101443C>G	ENST00000420999.1	-	8	1287	c.1204G>C	c.(1204-1206)Gat>Cat	p.D402H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	402							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CGGAGAGAATCCTCTTCAGAA	0.428																																																	0													131	113	119					X																	44101443		1884	4087	5971	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1204G>C	X.37:g.44101443C>G	ENSP00000404232:p.Asp402His		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.D402H	ENST00000420999.1	37	c.1204	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.376395|4.376395	0.82682|0.82682	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.74842|.	-0.85;-0.88|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87285|0.87285	0.6139|0.6139	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.90156|0.90156	0.4224|0.4224	10|5	0.66056|.	D|.	0.02|.	-27.2652|-27.2652	19.2302|19.2302	0.93834|0.93834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	402|.	Q5JST6|.	EFHC2_HUMAN|.	H|A	402;430;206|382	ENSP00000333823:D402H;ENSP00000404232:D430H|.	ENSP00000333823:D402H|.	D|G	-|-	1|2	0|0	EFHC2|EFHC2	43986387|43986387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	6.917000|6.917000	0.75782|0.75782	2.493000|2.493000	0.84123|0.84123	0.600000|0.600000	0.82982|0.82982	GAT|GGA	EFHC2	-	NULL		0.428	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	C	NM_025184		44101443	-1	no_errors	ENST00000333807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44101443	C	G	44101443	3	3	147	1	0	0	0	0	1	0	0	0	4957	855	30	1	1077	1	EFHC2	23	44101443	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	5955071	44101443	111169117	1134	24388										
EFHC2	80258	genome.wustl.edu	37	chrX	44101485	44101485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtaaggtggaaatttcctttCtatttttggaggaggagaag	13	3	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:44101485C>G	ENST00000420999.1	-	8	1245	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	388							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AATTTCCTTTCTATTTTTGGA	0.408																																																	0													75	66	68					X																	44101485		1864	4088	5952	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1162G>C	X.37:g.44101485C>G	ENSP00000404232:p.Glu388Gln		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.E388Q	ENST00000420999.1	37	c.1162	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.15|14.15	2.448135|2.448135	0.43429|0.43429	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.69175|.	-0.37;-0.38|.	5.9|5.9	5.03|5.03	0.67393|0.67393	.|.	0.230539|.	0.43579|.	D|.	0.000549|.	T|T	0.62146|0.62146	0.2404|0.2404	L|L	0.58925|0.58925	1.835|1.835	0.35925|0.35925	D|D	0.832106|0.832106	P|.	0.48503|.	0.911|.	B|.	0.39876|.	0.312|.	T|T	0.68599|0.68599	-0.5366|-0.5366	10|5	0.21540|.	T|.	0.41|.	-23.1706|-23.1706	10.8157|10.8157	0.46573|0.46573	0.0:0.8506:0.0:0.1494|0.0:0.8506:0.0:0.1494	.|.	388|.	Q5JST6|.	EFHC2_HUMAN|.	Q|T	388;416;192|368	ENSP00000333823:E388Q;ENSP00000404232:E416Q|.	ENSP00000333823:E388Q|.	E|R	-|-	1|2	0|0	EFHC2|EFHC2	43986429|43986429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.462000|1.462000	0.35266|0.35266	1.226000|1.226000	0.43582|0.43582	0.600000|0.600000	0.82982|0.82982	GAA|AGA	EFHC2	-	NULL		0.408	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	C	NM_025184		44101485	-1	no_errors	ENST00000333807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44101485	C	G	44101485	3	3	147	1	0	0	0	0	1	0	0	0	4957	922	32	1	1119	1	EFHC2	23	44101485	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	42	44101485	111169075	1135	24389										
GRIPAP1	56850	genome.wustl.edu	37	chrX	48830616	48830616	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgcaggtctttagctggtttCtcctggctctaggtctgggt	13	9	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48830616C>T	ENST00000376441.1	-	26	2549	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	GRIPAP1_ENST00000473581.1_5'Flank|KCND1_ENST00000218176.3_5'Flank|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E808K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E794K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	839						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TAGCTGGTTTCTCCTGGCTCT	0.557																																																	0													64	50	55					X																	48830616		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2515G>A	X.37:g.48830616C>T	ENSP00000365624:p.Glu839Lys		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E839K	ENST00000376441.1	37	c.2515	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	c	19.78	3.891840	0.72524	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	3.93	3.05	0.35203	.	0.232964	0.21932	U	0.067006	T	0.41282	0.1152	N	0.22421	0.69	0.80722	D	1	B	0.28291	0.206	B	0.28139	0.086	T	0.34153	-0.9840	9	0.87932	D	0	-4.6924	8.5347	0.33355	0.0:0.7681:0.2319:0.0	.	839	Q4V328	GRAP1_HUMAN	K	808;794;839;808	.	ENSP00000365608:E808K	E	-	1	0	GRIPAP1	48715560	1.000000	0.71417	0.958000	0.39756	0.958000	0.62258	1.582000	0.36568	0.681000	0.31386	-0.295000	0.09555	GAA	GRIPAP1	-	NULL		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	C	NM_207672		48830616	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	missense	SNP	0.999	T	T	48830616	C	T	48830616	3	4	147	1	0	0	0	0	1	0	0	0	6809	922	32	1	14	1	GRIPAP1	23	48830616	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	4729131	48830616	106439944	1136	24390										
TFE3	7030	genome.wustl.edu	37	chrX	48891275	48891275	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tctttcttctgccgttccttCaaaagggcctttgcctcggt	8	13	4	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48891275C>G	ENST00000315869.7	-	7	1285	c.1026G>C	c.(1024-1026)ttG>ttC	p.L342F	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	342					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GCCGTTCCTTCAAAAGGGCCT	0.552			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													104	83	90					X																	48891275		2203	4300	6503	SO:0001583	missense	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1026G>C	X.37:g.48891275C>G	ENSP00000314129:p.Leu342Phe		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L342F	ENST00000315869.7	37	c.1026	CCDS14315.3	X	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813737	0.70912	.	.	ENSG00000068323	ENST00000315869	D	0.97620	-4.46	5.68	5.68	0.88126	.	0.249007	0.36303	N	0.002674	D	0.94608	0.8262	L	0.40543	1.245	0.41211	D	0.986441	D	0.54772	0.968	P	0.45343	0.477	D	0.93846	0.7141	10	0.51188	T	0.08	-4.8136	9.6649	0.39979	0.0:0.9043:0.0:0.0957	.	342	P19532	TFE3_HUMAN	F	342	ENSP00000314129:L342F	ENSP00000314129:L342F	L	-	3	2	TFE3	48778219	0.006000	0.16342	1.000000	0.80357	0.991000	0.79684	0.125000	0.15749	2.393000	0.81446	0.462000	0.41574	TTG	TFE3	-	NULL		0.552	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	C	NM_006521		48891275	-1	no_errors	ENST00000315869	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48891275	C	G	48891275	3	3	147	1	0	0	0	0	1	0	0	0	15830	825	29	1	717	1	TFE3	23	48891275	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	60659	48891275	106379285	1137	24391										
WDR45	11152	genome.wustl.edu	37	chrX	48932479	48932479	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tccttaaaagtcatcatcatCacagatgtcaaggtacacgt	6	10	5	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48932479C>T	ENST00000376372.3	-	11	1247	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	WDR45_ENST00000553851.1_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D357N|WDR45_ENST00000356463.3_Missense_Mutation_p.D357N|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.D342N|PRAF2_ENST00000376390.4_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_3'UTR|WDR45_ENST00000322995.8_Missense_Mutation_p.D367N|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.D321N	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	356					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						TCATCATCATCACAGATGTCA	0.547																																																	0													85	79	81					X																	48932479		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.1066G>A	X.37:g.48932479C>T	ENSP00000365551:p.Asp356Asn		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D367N	ENST00000376372.3	37	c.1099	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.149417	0.94645	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.67700	2.07	0.80722	D	1	D;D;D;P	0.55172	0.969;0.97;0.969;0.939	P;P;P;P	0.55087	0.768;0.46;0.662;0.632	D	0.87631	0.2516	10	0.66056	D	0.02	-10.9565	16.6575	0.85232	0.0:1.0:0.0:0.0	.	367;321;357;356	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	N	356;367;357;321;357;342	ENSP00000365551:D356N;ENSP00000365543:D367N;ENSP00000348848:D357N;ENSP00000419897:D321N;ENSP00000365546:D357N;ENSP00000379913:D342N	ENSP00000365543:D367N	D	-	1	0	WDR45	48819423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.067000	0.76741	2.392000	0.81423	0.600000	0.82982	GAT	WDR45	-	NULL		0.547	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48932479	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48932479	C	T	48932479	3	4	147	1	0	0	0	0	1	0	0	0	17328	826	29	1	20	1	WDR45	23	48932479	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	41204	48932479	106338081	1138	24392										
SYP	6855	genome.wustl.edu	37	chrX	49054176	49054176	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccagggtgggagcacacctGaaggggtactcgaactcgac	14	12	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:49054176G>A	ENST00000263233.4	-	3	297	c.225C>T	c.(223-225)ttC>ttT	p.F75F	SYP_ENST00000538567.1_Intron|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000479808.1_Silent_p.F75F	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	75	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GAGCACACCTGAAGGGGTACT	0.622																																																	0													58	35	43					X																	49054176		2203	4300	6503	SO:0001819	synonymous_variant	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.225C>T	X.37:g.49054176G>A			B2R7L6|B7Z359|Q6P2F7	Silent	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.F75	ENST00000263233.4	37	c.225	CCDS14321.1	X																																																																																			SYP	-	pfam_MARVEL-like_dom,prints_Synaptophysin/porin		0.622	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	HGNC	protein_coding	OTTHUMT00000083625.2	G	NM_003179		49054176	-1	no_errors	ENST00000263233	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49054176	G	A	49054176	2	1	147	1	0	0	0	0	0	0	0	1	15491	1281	45	1		1	SYP	23	49054176	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	121697	49054176	106216384	1139	24393										
PPP1R3F	89801	genome.wustl.edu	37	chrX	49142903	49142903	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ggagggtgaagaggggctctCtgtcacaccctccagcccag	14	13	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:49142903C>G	ENST00000055335.6	+	4	1767	c.1751C>G	c.(1750-1752)tCt>tGt	p.S584C	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S255C|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S238C|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S238C|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S238C	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	584					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGGGCTCTCTGTCACACCC	0.622																																																	0													31	28	29					X																	49142903		2202	4300	6502	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1751C>G	X.37:g.49142903C>G	ENSP00000055335:p.Ser584Cys		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S584C	ENST00000055335.6	37	c.1751	CCDS35254.1	X	.	.	.	.	.	.	.	.	.	.	C	7.610	0.674607	0.14841	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60171	0.63;0.63;0.21;0.63;0.63	4.73	3.86	0.44501	.	0.565402	0.16494	N	0.211979	T	0.55433	0.1920	L	0.29908	0.895	0.09310	N	1	D;D;D	0.69078	0.982;0.969;0.997	P;P;P	0.56865	0.73;0.73;0.808	T	0.46020	-0.9221	10	0.87932	D	0	-1.9355	6.961	0.24597	0.0:0.8776:0.0:0.1224	.	255;269;584	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	C	238;255;584;238;238	ENSP00000420687:S238C;ENSP00000415548:S255C;ENSP00000055335:S584C;ENSP00000417535:S238C;ENSP00000365359:S238C	ENSP00000055335:S584C	S	+	2	0	PPP1R3F	49029847	0.377000	0.25106	0.111000	0.21465	0.052000	0.14988	1.805000	0.38883	2.321000	0.78463	0.513000	0.50165	TCT	PPP1R3F	-	NULL		0.622	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	C	NM_033215		49142903	1	no_errors	ENST00000055335	ensembl	human	known	70_37	missense	SNP	0.004	G	G	49142903	C	G	49142903	3	3	147	1	0	0	0	0	1	0	0	0	12402	913	32	1	1765	1	PPP1R3F	23	49142903	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	88727	49142903	106127657	1140	24394										
AKAP4	8852	genome.wustl.edu	37	chrX	49957243	49957243	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacttagccatgataaggcaGagcttcatcacagattctac	7	10	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:49957243G>C	ENST00000376056.2	-	5	2244	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	AKAP4_ENST00000358526.2_Silent_p.L707L|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.L698L|AKAP4_ENST00000376058.2_Silent_p.L324L					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGATAAGGCAGAGCTTCATCA	0.468																																																	0													109	88	95					X																	49957243		2203	4300	6503	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2094C>G	X.37:g.49957243G>C				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.L707	ENST00000376056.2	37	c.2121	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	G	NM_003886		49957243	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	silent	SNP	0.987	C	C	49957243	G	C	49957243	2	2	147	1	0	0	0	0	0	0	0	1	453	929	33	1		1	AKAP4	23	49957243	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	814340	49957243	105313317	1141	24395										
NUDT10	170685	genome.wustl.edu	37	chrX	51075857	51075857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agacacggacctacgaccccGaggggttcaagaagcgggcg	15	12	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:51075857G>A	ENST00000376006.3	+	2	260	c.40G>A	c.(40-42)Gag>Aag	p.E14K	NUDT10_ENST00000356450.2_Missense_Mutation_p.E14K	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					CTACGACCCCGAGGGGTTCAA	0.667																																					NSCLC(90;1817 2035 37909 38249)												0													42	32	35					X																	51075857		2203	4300	6503	SO:0001583	missense	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.40G>A	X.37:g.51075857G>A	ENSP00000365174:p.Glu14Lys		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E14K	ENST00000376006.3	37	c.40	CCDS35278.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699486	0.88830	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.32515	1.45;1.45	2.61	2.61	0.31194	NUDIX hydrolase domain-like (1);	0.056324	0.64402	D	0.000001	T	0.28699	0.0711	L	0.59436	1.845	0.36113	D	0.844964	D	0.57257	0.979	B	0.42462	0.388	T	0.50634	-0.8805	9	0.44086	T	0.13	-28.8812	10.5502	0.45083	0.0:0.0:1.0:0.0	.	14	Q8NFP7	NUD10_HUMAN	K	14	ENSP00000365174:E14K;ENSP00000348831:E14K	ENSP00000348831:E14K	E	+	1	0	NUDT10	51092597	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	8.274000	0.89889	1.602000	0.50124	0.429000	0.28392	GAG	NUDT10	-	superfamily_NUDIX_hydrolase_dom-like		0.667	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1	G	NM_153183		51075857	1	no_errors	ENST00000356450	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51075857	G	A	51075857	3	1	147	1	0	0	0	0	1	0	0	0	10750	1059	37	1	42	1	NUDT10	23	51075857	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1118614	51075857	104194703	1142	24396										
TSR2	90121	genome.wustl.edu	37	chrX	54470860	54470860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cccctccaggtcacagctacGaatgatggggctgctacaga	11	13	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:54470860G>A	ENST00000375151.4	+	5	474	c.453G>A	c.(451-453)acG>acA	p.T151T		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	151					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						TCACAGCTACGAATGATGGGG	0.522																																																	0													54	47	49					X																	54470860		2203	4299	6502	SO:0001819	synonymous_variant	90121			BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"WGG motif containing 1"					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.453G>A	X.37:g.54470860G>A				Silent	SNP	pfam_Pre-rRNA_process_TSR2	p.T151	ENST00000375151.4	37	c.453	CCDS14358.1	X																																																																																			TSR2	-	NULL		0.522	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR2	HGNC	protein_coding	OTTHUMT00000056802.1	G	NM_058163		54470860	1	no_errors	ENST00000375151	ensembl	human	known	70_37	silent	SNP	0.086	A	A	54470860	G	A	54470860	2	1	147	1	0	0	0	0	0	0	0	1	16696	1045	37	1		1	TSR2	23	54470860	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3395003	54470860	100799700	1143	24397										
PAGE2B	389860	genome.wustl.edu	37	chrX	55102509	55102509	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gagaacaagatcccaatcctCagaaagaggaaatgaccaag	9	9	1	5			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:55102509C>T	ENST00000374971.1	+	2	87	c.35C>T	c.(34-36)tCa>tTa	p.S12L	PAGE2B_ENST00000374974.3_Missense_Mutation_p.S12L	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	12										lung(3)	3						TCCCAATCCTCAGAAAGAGGA	0.338																																																	0													117	97	104					X																	55102509		2203	4300	6503	SO:0001583	missense	389860				CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.35C>T	X.37:g.55102509C>T	ENSP00000364110:p.Ser12Leu		A1L414	Missense_Mutation	SNP	pfam_GAGE	p.S12L	ENST00000374971.1	37	c.35	CCDS35304.1	X	.	.	.	.	.	.	.	.	.	.	c	7.629	0.678515	0.14841	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.09817	2.94;2.94	1.29	-2.58	0.06228	.	.	.	.	.	T	0.09949	0.0244	M	0.63428	1.95	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.33214	-0.9877	9	0.44086	T	0.13	.	3.3251	0.07064	0.4774:0.2838:0.2388:0.0	.	12	Q5JRK9	GGEE3_HUMAN	L	12	ENSP00000364113:S12L;ENSP00000364110:S12L	ENSP00000364110:S12L	S	+	2	0	PAGE2B	55119234	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-1.773000	0.01786	-1.144000	0.02862	0.287000	0.19450	TCA	PAGE2B	-	pfam_GAGE		0.338	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE2B	HGNC	protein_coding	OTTHUMT00000056849.1	C	XM_372224		55102509	1	no_errors	ENST00000374971	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55102509	C	T	55102509	3	4	147	1	0	0	0	0	1	0	0	0	11415	838	29	1	37	1	PAGE2B	23	55102509	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	631649	55102509	100168051	1144	24398										
SPIN2A	54466	genome.wustl.edu	37	chrX	57162266	57162266	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctaacagttaggactttttCaccaaatcgtagacatagat	6	9	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:57162266C>T	ENST00000374908.1	-	1	1164	c.765G>A	c.(763-765)gtG>gtA	p.V255V	SPIN2A_ENST00000374906.3_Silent_p.V255V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	255					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						AGGACTTTTTCACCAAATCGT	0.373																																																	0													35	32	33					X																	57162266		2201	4291	6492	SO:0001819	synonymous_variant	54466			Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.765G>A	X.37:g.57162266C>T			O75650|Q6IPW2|Q9UJJ0	Silent	SNP	pfam_Spin_Ssty	p.V255	ENST00000374908.1	37	c.765	CCDS35312.1	X																																																																																			SPIN2A	-	pfam_Spin_Ssty		0.373	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2A	HGNC	protein_coding	OTTHUMT00000058915.1	C	NM_019003		57162266	-1	no_errors	ENST00000374906	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57162266	C	T	57162266	2	4	147	1	0	0	0	0	0	0	0	1	15083	813	29	1		1	SPIN2A	23	57162266	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2059757	57162266	98108294	1145	24399										
AWAT2	158835	genome.wustl.edu	37	chrX	69264293	69264293	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aacaccaccaggtagaggttGacagcaatcacagtggttgc	11	10	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:69264293G>A	ENST00000276101.3	-	2	110	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	35					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGTAGAGGTTGACAGCAATCA	0.522																																					NSCLC(80;1334 1436 9350 24214 26427)												0													123	91	102					X																	69264293		2203	4300	6503	SO:0001819	synonymous_variant	158835			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.105C>T	X.37:g.69264293G>A			Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.V35	ENST00000276101.3	37	c.105	CCDS35320.1	X																																																																																			AWAT2	-	NULL		0.522	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	G	NM_001002254		69264293	-1	no_errors	ENST00000276101	ensembl	human	known	70_37	silent	SNP	0.036	A	A	69264293	G	A	69264293	2	1	147	1	0	0	0	0	0	0	0	1	1236	1277	45	1		1	AWAT2	23	69264293	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	12102027	69264293	86006267	1146	24400										
IGBP1	3476	genome.wustl.edu	37	chrX	69368661	69368661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aggcctccagtgaaacccttCattctcactcggaacatggc	8	14	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:69368661C>G	ENST00000342206.6	+	4	1228	c.729C>G	c.(727-729)ttC>ttG	p.F243L	IGBP1_ENST00000356413.4_Missense_Mutation_p.F243L|IGBP1-AS2_ENST00000403371.2_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	243	Interaction with MID1.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGAAACCCTTCATTCTCACTC	0.428																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)												0													65	54	58					X																	69368661		2203	4300	6503	SO:0001583	missense	3476			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"alpha 4"	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.729C>G	X.37:g.69368661C>G	ENSP00000363661:p.Phe243Leu		Q8TAB2	Missense_Mutation	SNP	pfam_TAP42-like	p.F243L	ENST00000342206.6	37	c.729	CCDS14396.1	X	.	.	.	.	.	.	.	.	.	.	.	19.65	3.866612	0.72065	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.62788	-0.0;-0.0	4.98	0.107	0.14544	.	0.000000	0.85682	D	0.000000	T	0.76083	0.3938	M	0.84683	2.71	0.54753	D	0.999986	D	0.76494	0.999	D	0.74023	0.982	T	0.74999	-0.3472	10	0.87932	D	0	.	8.5452	0.33417	0.0:0.5095:0.0:0.4905	.	243	P78318	IGBP1_HUMAN	L	243	ENSP00000363661:F243L;ENSP00000348784:F243L	ENSP00000363661:F243L	F	+	3	2	IGBP1	69285386	1.000000	0.71417	0.895000	0.35142	0.983000	0.72400	0.763000	0.26517	-0.023000	0.13963	0.600000	0.82982	TTC	IGBP1	-	pfam_TAP42-like		0.428	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGBP1	HGNC	protein_coding	OTTHUMT00000057052.1	C			69368661	1	no_errors	ENST00000342206	ensembl	human	known	70_37	missense	SNP	0.970	G	G	69368661	C	G	69368661	3	3	147	1	0	0	0	0	1	0	0	0	7587	825	29	1	743	1	IGBP1	23	69368661	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	104368	69368661	85901899	1147	24401										
PHKA1	5255	genome.wustl.edu	37	chrX	71800867	71800867	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agccctcattgcatggcacaGatgctgtggggcaggaactc	13	11	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:71800867G>T	ENST00000373542.4	-	32	3816	c.3657C>A	c.(3655-3657)atC>atA	p.I1219I	PHKA1_ENST00000373539.3_Silent_p.I1236I|PHKA1_ENST00000339490.3_Silent_p.I1206I|PHKA1_ENST00000541944.1_Silent_p.I1147I|PHKA1_ENST00000373545.3_Silent_p.I1177I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1219					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCATGGCACAGATGCTGTGGG	0.552																																																	0													69	52	58					X																	71800867		2203	4300	6503	SO:0001819	synonymous_variant	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3657C>A	X.37:g.71800867G>T			B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.I1236	ENST00000373542.4	37	c.3708	CCDS14421.1	X																																																																																			PHKA1	-	NULL		0.552	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71800867	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	silent	SNP	0.967	T	T	71800867	G	T	71800867	2	4	147	1	0	0	0	0	0	0	0	1	11867	932	33	3		3	PHKA1	23	71800867	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	2432206	71800867	83469693	1148	24402										
ZDHHC15	158866	genome.wustl.edu	37	chrX	74725672	74725672	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttacctttttctgctgggctCaaaacagtcactgtgaagag	9	9	3	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:74725672C>T	ENST00000373367.3	-	2	377	c.147G>A	c.(145-147)ttG>ttA	p.L49L	ZDHHC15_ENST00000373361.3_Silent_p.L49L|ZDHHC15_ENST00000541184.1_Intron|ZDHHC15_ENST00000482827.1_Intron	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	49					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTGCTGGGCTCAAAACAGTCA	0.373																																																	0													74	71	72					X																	74725672		2203	4299	6502	SO:0001819	synonymous_variant	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.147G>A	X.37:g.74725672C>T			B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.L49	ENST00000373367.3	37	c.147	CCDS14430.1	X																																																																																			ZDHHC15	-	NULL		0.373	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	C	NM_144969		74725672	-1	no_errors	ENST00000373367	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74725672	C	T	74725672	2	4	147	1	0	0	0	0	0	0	0	1	17635	825	29	1		1	ZDHHC15	23	74725672	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2924805	74725672	80544888	1149	24403										
ATRX	546	genome.wustl.edu	37	chrX	76891545	76891545	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gaagcatcttcaatttctatCacctacaagaaaaggagttg	7	8	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:76891545C>G	ENST00000373344.5	-	16	4774	c.4560G>C	c.(4558-4560)gtG>gtC	p.V1520V	ATRX_ENST00000395603.3_Silent_p.V1482V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1520					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAATTTCTATCACCTACAAGA	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											75	66	69					X																	76891545		2203	4296	6499	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4560G>C	X.37:g.76891545C>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1520	ENST00000373344.5	37	c.4560	CCDS14434.1	X																																																																																			ATRX	-	NULL		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76891545	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	silent	SNP	0.562	G	G	76891545	C	G	76891545	2	3	147	1	0	0	0	0	0	0	0	1	1209	813	29	1		1	ATRX	23	76891545	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2165873	76891545	78379015	1150	24404										
ATRX	546	genome.wustl.edu	37	chrX	76938673	76938673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ccttttttctcactggaactGatagtttttgtttctcctta	5	9	2	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:76938673G>A	ENST00000373344.5	-	9	2289	c.2075C>T	c.(2074-2076)tCa>tTa	p.S692L	ATRX_ENST00000395603.3_Missense_Mutation_p.S654L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	692					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CACTGGAACTGATAGTTTTTG	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											144	141	142					X																	76938673		2203	4295	6498	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2075C>T	X.37:g.76938673G>A	ENSP00000362441:p.Ser692Leu		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S692L	ENST00000373344.5	37	c.2075	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.906618	0.00512	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92965	-3.12;-3.14	5.41	3.27	0.37495	.	0.663319	0.12287	N	0.482317	D	0.88198	0.6372	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.0	T	0.76828	-0.2815	10	0.31617	T	0.26	1.6385	12.4595	0.55723	0.168:0.0:0.832:0.0	.	692;624;654;692	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	L	692;654;619	ENSP00000362441:S692L;ENSP00000378967:S654L	ENSP00000362441:S692L	S	-	2	0	ATRX	76825329	0.897000	0.30589	0.001000	0.08648	0.012000	0.07955	3.870000	0.56070	1.031000	0.39867	0.513000	0.50165	TCA	ATRX	-	NULL		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76938673	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.000	A	A	76938673	G	A	76938673	3	1	147	1	0	0	0	0	1	0	0	0	1209	1294	45	1	5511	1	ATRX	23	76938673	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	47128	76938673	78331887	1151	24405										
MAGT1	84061	genome.wustl.edu	37	chrX	77150956	77150956	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	actttgctccggctaggtctGagggtggggcgtgagaacag	17	8	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:77150956G>A	ENST00000358075.6	-	1	134	c.48C>T	c.(46-48)ctC>ctT	p.L16L	MAGT1_ENST00000373336.3_5'Flank	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	0					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCTAGGTCTGAGGGTGGGGC	0.597																																																	0													70	48	55					X																	77150956		2202	4294	6496	SO:0001819	synonymous_variant	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.48C>T	X.37:g.77150956G>A			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.L16	ENST00000358075.6	37	c.48	CCDS14436.2	X																																																																																			MAGT1	-	NULL		0.597	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	G	NM_032121		77150956	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	silent	SNP	0.008	A	A	77150956	G	A	77150956	2	1	147	1	0	0	0	0	0	0	0	1	9219	1277	45	1		1	MAGT1	23	77150956	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	212283	77150956	78119604	1152	24406										
HDX	139324	genome.wustl.edu	37	chrX	83588783	83588783	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ctaccttataatccaagaaaGagtttacttgttctacttca	4	9	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:83588783G>C	ENST00000297977.5	-	8	1919	c.1808C>G	c.(1807-1809)tCt>tGt	p.S603C	HDX_ENST00000373177.2_Missense_Mutation_p.S603C|HDX_ENST00000506585.2_Missense_Mutation_p.S545C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	603						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S603Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATCCAAGAAAGAGTTTACTTG	0.249																																					Pancreas(53;231 1169 36156 43751 51139)												1	Substitution - Missense(1)	large_intestine(1)											56	53	54					X																	83588783		2189	4271	6460	SO:0001583	missense	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1808C>G	X.37:g.83588783G>C	ENSP00000297977:p.Ser603Cys		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S603C	ENST00000297977.5	37	c.1808	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513296	0.27123	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35236	1.34;1.32;1.34	4.79	3.91	0.45181	.	0.201368	0.44688	D	0.000437	T	0.39886	0.1095	L	0.32530	0.975	0.39274	D	0.964449	D	0.63046	0.992	P	0.54401	0.751	T	0.40059	-0.9583	10	0.87932	D	0	-11.7148	11.9644	0.53027	0.0:0.0:0.8262:0.1738	.	603	Q7Z353	HDX_HUMAN	C	603;545;603	ENSP00000297977:S603C;ENSP00000362272:S545C;ENSP00000423670:S603C	ENSP00000297977:S603C	S	-	2	0	HDX	83475439	1.000000	0.71417	0.897000	0.35233	0.140000	0.21249	5.655000	0.67981	0.922000	0.37019	0.523000	0.50628	TCT	HDX	-	NULL		0.249	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	G	NM_144657		83588783	-1	no_errors	ENST00000297977	ensembl	human	known	70_37	missense	SNP	0.998	C	C	83588783	G	C	83588783	3	2	147	1	0	0	0	0	1	0	0	0	7046	942	33	1	276	1	HDX	23	83588783	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6437827	83588783	71681777	1153	24407										
DACH2	117154	genome.wustl.edu	37	chrX	86067873	86067873	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgcagaagaggtaccagttCaaattccaataatgaagtca	8	7	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:86067873C>G	ENST00000373125.4	+	8	1255	c.1255C>G	c.(1255-1257)Caa>Gaa	p.Q419E	DACH2_ENST00000510272.1_Missense_Mutation_p.Q200E|DACH2_ENST00000508860.1_Missense_Mutation_p.Q252E|DACH2_ENST00000373131.1_Missense_Mutation_p.Q406E	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	419					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGTACCAGTTCAAATTCCAAT	0.423																																																	0													70	63	65					X																	86067873		2203	4300	6503	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1255C>G	X.37:g.86067873C>G	ENSP00000362217:p.Gln419Glu		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.Q419E	ENST00000373125.4	37	c.1255	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	C	3.164	-0.171487	0.06421	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82081	-1.56;-1.57	4.51	3.62	0.41486	.	0.299003	0.27495	N	0.019104	T	0.67562	0.2906	N	0.14661	0.345	0.21950	N	0.999458	B;B;B;B	0.32467	0.123;0.123;0.372;0.1	B;B;B;B	0.32677	0.052;0.076;0.15;0.039	T	0.55976	-0.8055	10	0.18276	T	0.48	.	11.889	0.52618	0.0:0.6662:0.3338:0.0	.	285;419;406;419	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	E	419;406;419;252;200;252;74	ENSP00000362223:Q406E;ENSP00000362217:Q419E	ENSP00000345134:Q419E	Q	+	1	0	DACH2	85954529	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	1.997000	0.40786	1.822000	0.53115	0.513000	0.50165	CAA	DACH2	-	NULL		0.423	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	C	NM_053281		86067873	1	no_errors	ENST00000373125	ensembl	human	known	70_37	missense	SNP	0.970	G	G	86067873	C	G	86067873	3	3	147	1	0	0	0	0	1	0	0	0	4226	827	29	1	1285	1	DACH2	23	86067873	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	2479090	86067873	69202687	1154	24408										
FAM133A	286499	genome.wustl.edu	37	chrX	92965019	92965019	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cctcatctgaatcagattatGaagaggatgtgcaagcaaaa	9	7	3	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:92965019G>A	ENST00000355813.5	+	4	1127	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	FAM133A_ENST00000538690.1_Missense_Mutation_p.E201K|FAM133A_ENST00000332647.4_Missense_Mutation_p.E201K|FAM133A_ENST00000322139.4_Missense_Mutation_p.E201K	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	201	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						ATCAGATTATGAAGAGGATGT	0.363																																																	0													26	24	24					X																	92965019		2203	4298	6501	SO:0001583	missense	286499			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.601G>A	X.37:g.92965019G>A	ENSP00000348067:p.Glu201Lys			Missense_Mutation	SNP	NULL	p.E201K	ENST00000355813.5	37	c.601	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	3.394	-0.123788	0.06795	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	3.0	2.13	0.27403	.	0.512841	0.20173	N	0.097695	T	0.21347	0.0514	N	0.12182	0.205	0.19300	N	0.999975	B	0.09022	0.002	B	0.08055	0.003	T	0.21008	-1.0258	10	0.07482	T	0.82	.	5.3471	0.16016	0.1633:0.0:0.8367:0.0	.	201	Q8N9E0	F133A_HUMAN	K	201	ENSP00000441389:E201K;ENSP00000348067:E201K;ENSP00000318974:E201K;ENSP00000362169:E201K	ENSP00000318974:E201K	E	+	1	0	FAM133A	92851675	0.993000	0.37304	0.996000	0.52242	0.884000	0.51177	1.382000	0.34374	0.668000	0.31126	0.597000	0.82753	GAA	FAM133A	-	NULL		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	G	NM_173698		92965019	1	no_errors	ENST00000322139	ensembl	human	known	70_37	missense	SNP	0.996	A	A	92965019	G	A	92965019	3	1	147	1	0	0	0	0	1	0	0	0	5458	1291	45	1	603	1	FAM133A	23	92965019	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6897146	92965019	62305541	1155	24409										
PCDH19	57526	genome.wustl.edu	37	chrX	99597021	99597021	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcagtttggtcactctcctCatgtccactatccttcaggc	7	14	5	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:99597021C>T	ENST00000373034.4	-	5	4403	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	PCDH19_ENST00000255531.7_Missense_Mutation_p.E863K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E862K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	910					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACTCTCCTCATGTCCACTA	0.493																																																	0													213	195	201					X																	99597021		2125	4198	6323	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2728G>A	X.37:g.99597021C>T	ENSP00000362125:p.Glu910Lys		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E910K	ENST00000373034.4	37	c.2728	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.147246	0.94603	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.57436	0.48;0.55;0.4	5.99	5.99	0.97316	.	0.102852	0.64402	D	0.000003	T	0.52964	0.1767	N	0.08118	0	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.972	D;P;P	0.73380	0.98;0.893;0.784	T	0.51965	-0.8638	10	0.12766	T	0.61	.	19.4045	0.94643	0.0:1.0:0.0:0.0	.	910;863;862	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	862;910;863	ENSP00000400327:E862K;ENSP00000362125:E910K;ENSP00000255531:E863K	ENSP00000255531:E863K	E	-	1	0	PCDH19	99483677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.412000	0.80091	2.536000	0.85505	0.600000	0.82982	GAG	PCDH19	-	NULL		0.493	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	C	NM_020766		99597021	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99597021	C	T	99597021	3	4	147	1	0	0	0	0	1	0	0	0	11538	835	29	1	726	1	PCDH19	23	99597021	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	6632002	99597021	55673539	1156	24410										
GLA	2717	genome.wustl.edu	37	chrX	100652821	100652821	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agtaagtcttttaatgacatCtgcattgtattttctagctg	7	6	3	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:100652821C>T	ENST00000218516.3	-	7	1287	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	422					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TTAATGACATCTGCATTGTAT	0.368																																					Colon(193;776 2816 31189 44474)												0													83	79	80					X																	100652821		2203	4300	6503	SO:0001819	synonymous_variant	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.1266G>A	X.37:g.100652821C>T			Q6LER7	Silent	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.Q422	ENST00000218516.3	37	c.1266	CCDS14484.1	X																																																																																			GLA	-	NULL		0.368	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	C			100652821	-1	no_errors	ENST00000218516	ensembl	human	known	70_37	silent	SNP	0.000	T	T	100652821	C	T	100652821	2	4	147	1	0	0	0	0	0	0	0	1	6445	912	32	1		1	GLA	23	100652821	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	1055800	100652821	54617739	1157	24411										
ARMCX2	9823	genome.wustl.edu	37	chrX	100911348	100911348	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttggcattgttgctcagagtGagcaaagctacctgttggat	12	7	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:100911348G>C	ENST00000328766.5	-	5	1680	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	ARMCX2_ENST00000356824.4_Silent_p.L409L|ARMCX2_ENST00000330154.2_Silent_p.L409L|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	409						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGCTCAGAGTGAGCAAAGCTA	0.433																																																	0													113	102	105					X																	100911348		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1227C>G	X.37:g.100911348G>C			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.L409	ENST00000328766.5	37	c.1227	CCDS14490.1	X																																																																																			ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.433	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100911348	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	1.000	C	C	100911348	G	C	100911348	2	2	147	1	0	0	0	0	0	0	0	1	961	1277	45	1		1	ARMCX2	23	100911348	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	258527	100911348	54359212	1158	24412										
NXF5	55998	genome.wustl.edu	37	chrX	101096477	101096477	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atctccatttggcctggcttCaacttattcttcacagagta	6	11	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:101096477C>T	ENST00000361708.2	-	6	653	c.294G>A	c.(292-294)ttG>ttA	p.L98L	NXF5_ENST00000537026.1_Silent_p.L98L|NXF5_ENST00000473265.2_Silent_p.L98L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	98					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GGCCTGGCTTCAACTTATTCT	0.478																																																	0													137	115	123					X																	101096477		2203	4300	6503	SO:0001819	synonymous_variant	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.294G>A	X.37:g.101096477C>T			A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	pfam_Tap_RNA-bd	p.L98	ENST00000361708.2	37	c.294		X																																																																																			NXF5	-	NULL		0.478	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		C			101096477	-1	no_errors	ENST00000263032	ensembl	human	known	70_37	silent	SNP	0.948	T	T	101096477	C	T	101096477	2	4	147	1	0	0	0	0	0	0	0	1	10810	825	29	1		1	NXF5	23	101096477	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	185129	101096477	54174083	1159	24413										
ARMCX5	64860	genome.wustl.edu	37	chrX	101857527	101857527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tgggtccagacctgacagaaGggaagagaccagcattggga	15	8	0	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:101857527G>A	ENST00000604957.1	+	1	3080	c.458G>A	c.(457-459)aGg>aAg	p.R153K	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.R153K|ARMCX5_ENST00000537008.1_Missense_Mutation_p.R153K|ARMCX5_ENST00000372742.1_Missense_Mutation_p.R153K|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.R153K|ARMCX5_ENST00000536530.1_Missense_Mutation_p.R153K	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	153										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGACAGAAGGGAAGAGACC	0.468																																																	0													181	164	170					X																	101857527		2203	4300	6503	SO:0001583	missense	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.458G>A	X.37:g.101857527G>A	ENSP00000474720:p.Arg153Lys		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R153K	ENST00000604957.1	37	c.458	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219354	0.01542	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	3.36	-4.76	0.03229	.	.	.	.	.	T	0.06826	0.0174	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	9	0.02654	T	1	7.9996	12.4825	0.55852	0.8178:0.0:0.1822:0.0	.	153	Q6P1M9	ARMX5_HUMAN	K	153	ENSP00000246174:R153K;ENSP00000439001:R153K;ENSP00000446385:R153K;ENSP00000445851:R153K;ENSP00000361827:R153K	ENSP00000246174:R153K	R	+	2	0	ARMCX5	101744183	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.157000	0.10085	-1.339000	0.02230	-0.344000	0.07964	AGG	ARMCX5	-	NULL		0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	G	NM_022838		101857527	1	no_errors	ENST00000246174	ensembl	human	known	70_37	missense	SNP	0.000	A	A	101857527	G	A	101857527	3	1	147	1	0	0	0	0	1	0	0	0	963	1000	35	4	460	4	ARMCX5	23	101857527	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	761050	101857527	53413033	1160	24414										
TBC1D8B	54885	genome.wustl.edu	37	chrX	106093419	106093419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaagtgcagtgaatgtggtgGactgtttcttctatgatgga	13	4	2	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:106093419G>A	ENST00000357242.5	+	12	2176	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D662N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	668	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAATGTGGTGGACTGTTTCTT	0.373																																																	0													226	181	196					X																	106093419		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2002G>A	X.37:g.106093419G>A	ENSP00000349781:p.Asp668Asn		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.D668N	ENST00000357242.5	37	c.2002	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	30	5.052673	0.93793	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.50277	0.75;0.75	5.2	5.2	0.72013	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	D	0.83193	0.5201	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91244	0.5024	10	0.87932	D	0	-14.1587	16.2861	0.82722	0.0:0.0:1.0:0.0	.	668	Q0IIM8	TBC8B_HUMAN	N	668;662	ENSP00000349781:D668N;ENSP00000276175:D662N	ENSP00000276175:D662N	D	+	1	0	TBC1D8B	105980075	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	9.869000	0.99810	2.148000	0.66965	0.594000	0.82650	GAC	TBC1D8B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	G	NM_017752		106093419	1	no_errors	ENST00000357242	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106093419	G	A	106093419	3	1	147	1	0	0	0	0	1	0	0	0	15656	1174	41	1	2114	1	TBC1D8B	23	106093419	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	4235892	106093419	49177141	1161	24415										
VSIG1	340547	genome.wustl.edu	37	chrX	107320497	107320497	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cttgacatcgagctggagctGgagccagaaacgcagtcgga	14	10	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:107320497G>T	ENST00000217957.5	+	7	1167	c.1050G>T	c.(1048-1050)ctG>ctT	p.L350L	VSIG1_ENST00000415430.3_Silent_p.L386L	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	350						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AGCTGGAGCTGGAGCCAGAAA	0.572																																																	0													75	71	72					X																	107320497		2203	4300	6503	SO:0001819	synonymous_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1050G>T	X.37:g.107320497G>T			C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L386	ENST00000217957.5	37	c.1158	CCDS14535.1	X																																																																																			VSIG1	-	NULL		0.572	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	G	NM_182607		107320497	1	no_errors	ENST00000415430	ensembl	human	known	70_37	silent	SNP	0.000	T	T	107320497	G	T	107320497	2	4	147	1	0	0	0	0	0	0	0	1	17253	1335	47	4		4	VSIG1	23	107320497	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	1227078	107320497	47950063	1162	24416										
ALG13	79868	genome.wustl.edu	37	chrX	110970137	110970137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tacggcaagggagaccccctCctcccacccaggctgcagca	10	18	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:110970137C>T	ENST00000394780.3	+	16	1842	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	ALG13_ENST00000251943.4_Silent_p.L506L|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	610					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GAGACCCCCTCCTCCCACCCA	0.448																																																	0													226	196	205					X																	110970137		1568	3582	5150	SO:0001819	synonymous_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1830C>T	X.37:g.110970137C>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.L506	ENST00000394780.3	37	c.1518	CCDS55477.1	X																																																																																			ALG13	-	NULL		0.448	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	C	NM_018466		110970137	1	no_errors	ENST00000251943	ensembl	human	known	70_37	silent	SNP	0.000	T	T	110970137	C	T	110970137	2	4	147	1	0	0	0	0	0	0	0	1	515	842	30	1		1	ALG13	23	110970137	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3649640	110970137	44300423	1163	24417										
ZCCHC16	340595	genome.wustl.edu	37	chrX	111698092	111698092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aaaggggccaagtcatgcctGccctggccaccacagtgatg	12	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:111698092G>T	ENST00000340433.2	+	1	366	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	46							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCATGCCTGCCCTGGCCAC	0.527																																																	0													122	89	100					X																	111698092		2203	4300	6503	SO:0001583	missense	340595			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.136G>T	X.37:g.111698092G>T	ENSP00000340590:p.Ala46Ser		B2RPG1	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.A46S	ENST00000340433.2	37	c.136	CCDS35369.1	X	.	.	.	.	.	.	.	.	.	.	G	0.577	-0.838710	0.02692	.	.	ENSG00000187823	ENST00000340433	T	0.40476	1.03	4.04	-4.1	0.03940	.	0.894547	0.09178	N	0.837809	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.19391	0.025	T	0.23511	-1.0186	10	0.15952	T	0.53	0.765	1.6487	0.02767	0.2697:0.3361:0.2683:0.1258	.	46	Q6ZR62	ZCH16_HUMAN	S	46	ENSP00000340590:A46S	ENSP00000340590:A46S	A	+	1	0	ZCCHC16	111584748	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.249000	0.08842	-1.216000	0.02607	0.600000	0.82982	GCC	ZCCHC16	-	NULL		0.527	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	G	NM_001004308		111698092	1	no_errors	ENST00000340433	ensembl	human	known	70_37	missense	SNP	0.000	T	T	111698092	G	T	111698092	3	4	147	1	0	0	0	0	1	0	0	0	17614	1319	46	4	138	4	ZCCHC16	23	111698092	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	727955	111698092	43572468	1164	24418										
ZDHHC9	51114	genome.wustl.edu	37	chrX	128947660	128947660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	cagcggaggatatgttccagGagtttctttcaatgtctcca	10	9	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:128947660G>A	ENST00000357166.6	-	7	1058	c.667C>T	c.(667-669)Cct>Tct	p.P223S	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P223S	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	223					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TATGTTCCAGGAGTTTCTTTC	0.408																																																	0													92	84	87					X																	128947660		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.667C>T	X.37:g.128947660G>A	ENSP00000349689:p.Pro223Ser		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P223S	ENST00000357166.6	37	c.667	CCDS35395.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.108596	0.94292	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.22945	1.93;1.93	5.95	5.95	0.96441	.	0.158037	0.64402	D	0.000017	T	0.55529	0.1926	M	0.83774	2.66	0.80722	D	1	P	0.49559	0.925	P	0.62649	0.905	T	0.57705	-0.7765	10	0.59425	D	0.04	-7.1653	18.9916	0.92794	0.0:0.0:1.0:0.0	.	223	Q9Y397	ZDHC9_HUMAN	S	223	ENSP00000349689:P223S;ENSP00000360103:P223S	ENSP00000349689:P223S	P	-	1	0	ZDHHC9	128775341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.454000	0.97621	2.533000	0.85409	0.596000	0.82720	CCT	ZDHHC9	-	NULL		0.408	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC9	HGNC	protein_coding	OTTHUMT00000058213.1	G	NM_016032		128947660	-1	no_errors	ENST00000357166	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128947660	G	A	128947660	3	1	147	1	0	0	0	0	1	0	0	0	17652	1174	41	1	447	1	ZDHHC9	23	128947660	Missense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	17249568	128947660	26322900	1165	24419										
HS6ST2	90161	genome.wustl.edu	37	chrX	132091225	132091225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gggtccggcaccggggagctGaacgcctgcaggcggaggag	20	11	0	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:132091225G>A	ENST00000370836.2	-	3	973	c.558C>T	c.(556-558)ttC>ttT	p.F186F	HS6ST2_ENST00000370833.2_Silent_p.F40F|HS6ST2_ENST00000521489.1_Silent_p.F186F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	186					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGAGCTGAACGCCTGCA	0.632																																																	0													37	40	39					X																	132091225		2056	4162	6218	SO:0001819	synonymous_variant	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.558C>T	X.37:g.132091225G>A			B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	pfam_Sulfotransferase	p.F186	ENST00000370836.2	37	c.558	CCDS48169.1	X																																																																																			HS6ST2	-	NULL		0.632	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	G	NM_147174		132091225	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	silent	SNP	0.999	A	A	132091225	G	A	132091225	2	1	147	1	0	0	0	0	0	0	0	1	7391	1281	45	1		1	HS6ST2	23	132091225	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3143565	132091225	23179335	1166	24420										
GPR112	139378	genome.wustl.edu	37	chrX	135391004	135391004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gtcgagttttatctttctctCaggtaagaaaatgtattctt	7	6	4	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:135391004C>T	ENST00000394143.1	+	4	359	c.68C>T	c.(67-69)tCa>tTa	p.S23L	GPR112_ENST00000370652.1_Missense_Mutation_p.S23L|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Missense_Mutation_p.S23L|GPR112_ENST00000412101.1_Missense_Mutation_p.S23L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	23					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTCTCTCAGGTAAGAAA	0.294																																																	0													172	153	159					X																	135391004		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.68C>T	X.37:g.135391004C>T	ENSP00000377699:p.Ser23Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S23L	ENST00000394143.1	37	c.68	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738973	0.49045	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.38560	1.53;1.53;1.13;1.13	5.58	5.58	0.84498	.	.	.	.	.	T	0.37999	0.1024	N	0.14661	0.345	0.80722	D	1	D;P	0.55605	0.972;0.953	P;P	0.51453	0.67;0.469	T	0.36163	-0.9759	9	0.72032	D	0.01	.	14.0778	0.64900	0.0:1.0:0.0:0.0	.	23;23	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	23	ENSP00000377699:S23L;ENSP00000359686:S23L;ENSP00000416526:S23L;ENSP00000377697:S23L	ENSP00000359686:S23L	S	+	2	0	GPR112	135218670	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.439000	0.52878	2.486000	0.83907	0.544000	0.68410	TCA	GPR112	-	NULL		0.294	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135391004	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135391004	C	T	135391004	3	4	147	1	0	0	0	0	1	0	0	0	6648	838	29	1	70	1	GPR112	23	135391004	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3299779	135391004	19879556	1167	24421										
CXorf66	347487	genome.wustl.edu	37	chrX	139038520	139038520	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	ttgaatagctgaggtggcctGactggcttatctgaactggc	13	8	1	4			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:139038520G>C	ENST00000370540.1	-	3	644	c.621C>G	c.(619-621)gtC>gtG	p.V207V		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	207						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GAGGTGGCCTGACTGGCTTAT	0.453																																																	0													156	137	143					X																	139038520		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.621C>G	X.37:g.139038520G>C				Silent	SNP	NULL	p.V207	ENST00000370540.1	37	c.621	CCDS35411.1	X																																																																																			CXorf66	-	NULL		0.453	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	HGNC	protein_coding	OTTHUMT00000058572.1	G	NM_001013403		139038520	-1	no_errors	ENST00000370540	ensembl	human	known	70_37	silent	SNP	0.000	C	C	139038520	G	C	139038520	2	2	147	1	0	0	0	0	0	0	0	1	4123	1277	45	1		1	CXorf66	23	139038520	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3647516	139038520	16232040	1168	24422										
SLITRK4	139065	genome.wustl.edu	37	chrX	142717613	142717613	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	tatttcaggatagagtctctCaatttgattgccattgagat	8	6	3	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:142717613C>G	ENST00000381779.4	-	2	1537	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E438Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E438Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	438						integral component of membrane (GO:0016021)		p.E438*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGTCTCTCAATTTGATTG	0.363																																																	1	Substitution - Nonsense(1)	kidney(1)											75	69	71					X																	142717613		2203	4300	6503	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1312G>C	X.37:g.142717613C>G	ENSP00000371198:p.Glu438Gln		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E438Q	ENST00000381779.4	37	c.1312	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091055	0.55968	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57907	0.37;0.37;0.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	N	0.21097	0.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61302	-0.7090	10	0.41790	T	0.15	-10.8603	16.8528	0.85998	0.0:1.0:0.0:0.0	.	438	Q8IW52	SLIK4_HUMAN	Q	438	ENSP00000371198:E438Q;ENSP00000349400:E438Q;ENSP00000336627:E438Q	ENSP00000336627:E438Q	E	-	1	0	SLITRK4	142545279	1.000000	0.71417	0.262000	0.24481	0.976000	0.68499	4.913000	0.63341	2.384000	0.81235	0.594000	0.82650	GAG	SLITRK4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.363	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	C	NM_173078		142717613	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	missense	SNP	0.993	G	G	142717613	C	G	142717613	3	3	147	1	0	0	0	0	1	0	0	0	14775	835	29	1	1205	1	SLITRK4	23	142717613	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	3679093	142717613	12552947	1169	24423										
MAGEA8	4107	genome.wustl.edu	37	chrX	149013328	149013328	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcagcaatgaagaggagggGccaagcacctccccggaccc	13	14	0	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:149013328G>T	ENST00000542674.1	+	3	803	c.282G>T	c.(280-282)ggG>ggT	p.G94G	MAGEA8_ENST00000535454.1_Silent_p.G94G|MAGEA8_ENST00000286482.1_Silent_p.G94G|MAGEA8_ENST00000493910.1_3'UTR	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	94										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGAGGGGCCAAGCACCT	0.582																																																	0													83	80	81					X																	149013328		2203	4298	6501	SO:0001819	synonymous_variant	4107				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.282G>T	X.37:g.149013328G>T			Q9BUN9	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G94	ENST00000542674.1	37	c.282	CCDS14692.1	X																																																																																			MAGEA8	-	pfam_Melanoma_ass_antigen_N		0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	G	NM_005364		149013328	1	no_errors	ENST00000286482	ensembl	human	known	70_37	silent	SNP	0.008	T	T	149013328	G	T	149013328	2	4	147	1	0	0	0	0	0	0	0	1	9194	1190	42	4		4	MAGEA8	23	149013328	Silent	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	6295715	149013328	6257232	1170	24424										
MAMLD1	10046	genome.wustl.edu	37	chrX	149680410	149680410	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	atcccactcaccaggcaccaGagctgcgagggcatgggagt	13	13	1	1			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:149680410G>C	ENST00000370401.2	+	0	2816				MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q688H|MAMLD1_ENST00000426613.2_3'UTR|MAMLD1_ENST00000262858.5_3'UTR|MAMLD1_ENST00000455522.2_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCACCAGAGCTGCGAGG	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.*181G>C	X.37:g.149680410G>C			B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.Q688H	ENST00000370401.2	37	c.2064	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613042	0.46631	.	.	ENSG00000013619	ENST00000432680	T	0.67698	-0.28	4.8	1.91	0.25777	.	.	.	.	.	T	0.52805	0.1757	L	0.34521	1.04	0.18873	N	0.999985	B	0.26809	0.16	B	0.25291	0.059	T	0.36578	-0.9742	9	0.37606	T	0.19	0.4688	9.2695	0.37661	0.078:0.2661:0.6559:0.0	.	688	Q13495-3	.	H	688	ENSP00000414517:Q688H	ENSP00000414517:Q688H	Q	+	3	2	MAMLD1	149431068	0.658000	0.27402	0.000000	0.03702	0.020000	0.10135	0.406000	0.21032	-0.026000	0.13895	0.513000	0.50165	CAG	MAMLD1	-	NULL		0.567	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	G	NM_005491		149680410	1	no_errors	ENST00000432680	ensembl	human	known	70_37	missense	SNP	0.126	C	C	149680410	G	C	149680410	1	2	147	0	1	0	0	0	0	0	0	0	9231	933	33	1		1	MAMLD1	23	149680410	3'UTR	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	667082	149680410	5590150	1171	24425										
L1CAM	3897	genome.wustl.edu	37	chrX	153133896	153133896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	gattgtgctgcggggcccctGagtgatctgagttgcatctg	15	9	2	3			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:153133896G>A	ENST00000370060.1	-	14	1753	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q522*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q522*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q517*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q517*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q524*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q524*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	522	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGCCCCTGAGTGATCTGA	0.612																																																	0													109	115	113					X																	153133896		2203	4300	6503	SO:0001587	stop_gained	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1564C>T	X.37:g.153133896G>A	ENSP00000359077:p.Gln522*		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q524*	ENST00000370060.1	37	c.1570	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192264	0.78902	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.	.	.	5.62	2.39	0.29439	.	0.524378	0.17438	N	0.174217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5281	0.07766	0.0904:0.1325:0.4692:0.3079	.	.	.	.	X	522;524;522;524;517;517;522	.	ENSP00000355380:Q522X	Q	-	1	0	L1CAM	152787090	0.592000	0.26832	0.454000	0.27019	0.016000	0.09150	1.023000	0.30065	0.490000	0.27771	0.529000	0.55759	CAG	L1CAM	-	pfam_Ig_I-set,pfscan_Ig-like		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153133896	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	nonsense	SNP	0.158	A	A	153133896	G	A	153133896	4	1	147	1	0	0	0	0	0	1	0	0	8608	1299	45	1	2273	1	L1CAM	23	153133896	Nonsense_Mutation	SNP	G	TCGA-IR-A3LA-01A-11D-A22X-09	3453486	153133896	2136664	1172	24426										
F8A2	8263	genome.wustl.edu	37	chrX	154115607	154115607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	agcttcccgaggagctctttCtgctgctccagtctttggtc	10	13	3	0			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:154115607C>G	ENST00000369446.2	+	1	973	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	F8_ENST00000330287.6_5'Flank|MIR1184-1_ENST00000408606.1_RNA|F8_ENST00000360256.4_Intron	NM_012151.3	NP_036283.2	P23610	F8I2_HUMAN	coagulation factor VIII-associated 1	320						nucleus (GO:0005634)				endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGCTCTTTCTGCTGCTCCA	0.602																																																	0													1	1	1					X																	154115607		41	331	372	SO:0001583	missense	8263			M34677	CCDS35459.1	Xq28	2014-01-28	2011-04-13	2004-11-02	ENSG00000197932	ENSG00000277203			3547	protein-coding gene	gene with protein product		305423	"coagulation factor VIII-associated (intronic transcript) 1"	F8A		2110545	Standard	NM_012151		Approved	DXS522E	uc004fmv.3	P23610	OTTHUMG00000013500	ENST00000369446.2:c.958C>G	X.37:g.154115607C>G	ENSP00000358456:p.Leu320Val		Q5HY66|Q8IXP3	Missense_Mutation	SNP	NULL	p.L320V	ENST00000369446.2	37	c.958	CCDS35459.1	X	.	.	.	.	.	.	.	.	.	.	c	10.77	1.444634	0.25987	.	.	ENSG00000197932	ENST00000369446	T	0.21932	1.98	2.41	1.53	0.23141	.	0.000000	0.49305	U	0.000146	T	0.31827	0.0809	M	0.67397	2.05	0.41657	D	0.989162	D	0.61697	0.99	P	0.56398	0.797	T	0.06320	-1.0833	10	0.72032	D	0.01	-16.5362	6.6182	0.22788	0.0:0.8371:0.0:0.1629	.	320	P23610	F8I2_HUMAN	V	320	ENSP00000358456:L320V	ENSP00000358456:L320V	L	+	1	2	F8A1	153768801	1.000000	0.71417	0.982000	0.44146	0.127000	0.20565	3.277000	0.51654	0.458000	0.26988	0.478000	0.44815	CTG	F8A1	-	NULL		0.602	F8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8A1	HGNC	protein_coding	OTTHUMT00000037637.2	C	NM_012151		154115607	1	no_errors	ENST00000369446	ensembl	human	known	70_37	missense	SNP	0.962	G	G	154115607	C	G	154115607	3	3	147	1	0	0	0	0	1	0	0	0	5364	912	32	1	960	1	F8A2	23	154115607	Missense_Mutation	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	981711	154115607	1154953	1173	24427										
F8	2157	genome.wustl.edu	37	chrX	154175986	154175986	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.622317596566524	725	3.05274939442928e-301	4.35064104554521	4.98528294400216	3.79448842781615	0.0101695276665264	0.0428888775501331	558	aactaacctgggttttccatCgacatgaagacagtttctcc	7	11	1	2			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:154175986C>G	ENST00000360256.4	-	13	2300	c.2100G>C	c.(2098-2100)tcG>tcC	p.S700S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTTTTCCATCGACATGAAGA	0.413																																																	0													142	135	137					X																	154175986		2203	4300	6503	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2100G>C	X.37:g.154175986C>G			Q14286|Q5HY69	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S700	ENST00000360256.4	37	c.2100	CCDS35457.1	X																																																																																			F8	-	superfamily_Cupredoxin		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	C			154175986	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	silent	SNP	0.694	G	G	154175986	C	G	154175986	2	3	147	1	0	0	0	0	0	0	0	1	5362	871	31	1		1	F8	23	154175986	Silent	SNP	C	TCGA-IR-A3LA-01A-11D-A22X-09	60379	154175986	1094574	1174	24428										
CHD5	26038	genome.wustl.edu	37	chr1	6228322	6228323	+	Frame_Shift_Ins	INS	-	-	CA													0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gtcatcgaaggcttcaagacINScaccatcttcttcttctgga							TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr1:6228322_6228323insCA	ENST00000262450.3	-	2	193_194	c.94_95insTG	c.(94-96)ggtfs	p.G32fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCTTCAAGACCACCATCTTCT	0.52																																																	0																																										SO:0001589	frameshift_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.93_94dupTG	1.37:g.6228323_6228324dupCA	ENSP00000262450:p.Gly32fs		A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Ins	INS	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G32fs	ENST00000262450.3	37	c.95_94	CCDS57.1	1																																																																																			CHD5	-	NULL		0.52	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	-	NM_015557		6228323	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CA	CA	6228323	-	CA	6228322	7	5	148	1	0	1	1	0	0	0	0	0	3333	507	18	0	5929	0	CHD5	1	6228322	Frame_Shift_Ins	INS	-	TCGA-IR-A3LB-01A-11D-A243-09		6228322	243022299	1	24429										
KAZ	23254	genome.wustl.edu	37	chr1	14925500	14925500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ccaaaatcctgagcatgatgGaagacaataagcagctcgcg	10	10	0	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr1:14925500G>A	ENST00000376030.2	+	1	301	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	KAZN_ENST00000503743.1_Missense_Mutation_p.E3K|KAZN_ENST00000422387.2_Missense_Mutation_p.E3K	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	3					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GAGCATGATGGAAGACAATAA	0.657																																																	0													38	42	41					1																	14925500		1969	4149	6118	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.7G>A	1.37:g.14925500G>A	ENSP00000365198:p.Glu3Lys		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E3K	ENST00000376030.2	37	c.7	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760925	0.69763	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387	T;T;T	0.49432	0.78;0.78;0.78	3.98	3.98	0.46160	.	0.000000	0.49916	U	0.000124	T	0.45875	0.1364	L	0.44542	1.39	0.80722	D	1	P;D	0.53151	0.557;0.958	B;P	0.46629	0.117;0.522	T	0.52480	-0.8570	10	0.72032	D	0.01	-6.6089	13.4971	0.61432	0.0:0.0:1.0:0.0	.	3;3	Q674X7-2;Q674X7	.;KAZRN_HUMAN	K	3	ENSP00000365198:E3K;ENSP00000426015:E3K;ENSP00000391728:E3K	ENSP00000365198:E3K	E	+	1	0	KAZN	14798087	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.124000	0.71620	1.739000	0.51704	0.313000	0.20887	GAA	KAZN	-	NULL		0.657	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		14925500	1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14925500	G	A	14925500	3	1	148	1	0	0	0	0	1	0	0	0	8008	1175	41	1	9	1	KAZ	1	14925500	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	8697178	14925500	234325121	2	24430										
EXTL1	2134	genome.wustl.edu	37	chr1	26355692	26355692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gtgcctctttaggacccagcGccaggagacgctgcccaatg	12	14	1	1	rs140176340		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr1:26355692G>T	ENST00000374280.3	+	2	1655	c.788G>T	c.(787-789)cGc>cTc	p.R263L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	263					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACCCAGCGCCAGGAGACG	0.637																																																	0													74	72	72					1																	26355692		2203	4300	6503	SO:0001583	missense	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.788G>T	1.37:g.26355692G>T	ENSP00000363398:p.Arg263Leu		Q6GSC1	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R263L	ENST00000374280.3	37	c.788	CCDS271.1	1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217728	0.06101	.	.	ENSG00000158008	ENST00000374280	D	0.97505	-4.41	3.59	-0.874	0.10631	.	1.254510	0.05024	N	0.473444	D	0.89382	0.6699	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.81850	-0.0743	10	0.27082	T	0.32	-2.1791	1.6375	0.02745	0.3501:0.3468:0.1897:0.1134	.	263	Q92935	EXTL1_HUMAN	L	263	ENSP00000363398:R263L	ENSP00000363398:R263L	R	+	2	0	EXTL1	26228279	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.430000	0.21428	0.031000	0.15407	-1.195000	0.01675	CGC	EXTL1	-	pfam_Exostosin		0.637	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL1	HGNC	protein_coding	OTTHUMT00000019749.1	G	NM_004455		26355692	1	no_errors	ENST00000374280	ensembl	human	known	70_37	missense	SNP	0.043	T	T	26355692	G	T	26355692	3	4	148	1	0	0	0	0	1	0	0	0	5337	1087	38	2	794	2	EXTL1	1	26355692	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	11430192	26355692	222894929	3	24431										
MANEAL	149175	genome.wustl.edu	37	chr1	38265771	38265771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ttcccaagaagacacccaccCgcctgtatttggactacctg	7	15	0	2	rs200095743		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr1:38265771C>T	ENST00000373045.6	+	4	1651	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	MANEAL_ENST00000329006.5_Missense_Mutation_p.R202C|MANEAL_ENST00000397631.3_3'UTR|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Missense_Mutation_p.R230C	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	424						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GACACCCACCCGCCTGTATTT	0.582																																																	0													56	62	60					1																	38265771		2202	4300	6502	SO:0001583	missense	149175			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1270C>T	1.37:g.38265771C>T	ENSP00000362136:p.Arg424Cys		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	NULL	p.R424C	ENST00000373045.6	37	c.1270	CCDS44110.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276407	0.80580	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.047495	0.85682	D	0.000000	T	0.67097	0.2857	L	0.37630	1.12	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.65987	0.827;0.94	T	0.64305	-0.6439	9	0.38643	T	0.18	-15.6995	18.2155	0.89884	0.0:1.0:0.0:0.0	.	202;424	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	C	424;230;202	.	ENSP00000328770:R202C	R	+	1	0	MANEAL	38038358	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	5.379000	0.66196	2.662000	0.90505	0.655000	0.94253	CGC	MANEAL	-	NULL		0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEAL	HGNC	protein_coding	OTTHUMT00000012469.2	C	NM_152496		38265771	1	no_errors	ENST00000373045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38265771	C	T	38265771	3	4	148	1	0	0	0	0	1	0	0	0	9245	652	23	2	1284	2	MANEAL	1	38265771	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	11910079	38265771	210984850	4	24432										
ARNT	405	genome.wustl.edu	37	chr1	150785761	150785761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ccactgtggccagacacccaCaccctctgctgtccgtgtct	8	18	2	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr1:150785761C>T	ENST00000358595.5	-	21	2367	c.2167G>A	c.(2167-2169)Gtg>Atg	p.V723M	RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000354396.2_Missense_Mutation_p.V721M|ARNT_ENST00000515192.1_Missense_Mutation_p.V709M|ARNT_ENST00000505755.1_Missense_Mutation_p.V708M	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	723	Gln-rich.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGACACCCACACCCTCTGCT	0.522			T	ETV6	AML						OREG0013788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													95	93	94					1																	150785761		2203	4300	6503	SO:0001583	missense	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2167G>A	1.37:g.150785761C>T	ENSP00000351407:p.Val723Met	1735	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.V723M	ENST00000358595.5	37	c.2167	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839454	0.91117	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.85	5.85	0.93711	.	0.411581	0.25299	N	0.031668	T	0.65801	0.2726	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.968;0.998;0.998;0.997;0.996	T	0.66296	-0.5959	10	0.66056	D	0.02	.	20.1663	0.98152	0.0:1.0:0.0:0.0	.	707;721;709;708;723	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	M	723;721;709;674;708	ENSP00000351407:V723M;ENSP00000346372:V721M;ENSP00000423851:V709M;ENSP00000427571:V708M	ENSP00000346372:V721M	V	-	1	0	ARNT	149052385	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.897000	0.69831	2.773000	0.95371	0.585000	0.79938	GTG	ARNT	-	NULL		0.522	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	C			150785761	-1	no_errors	ENST00000358595	ensembl	human	known	70_37	missense	SNP	1.000	T	T	150785761	C	T	150785761	3	4	148	1	0	0	0	0	1	0	0	0	966	478	17	4	210	4	ARNT	1	150785761	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	112519990	150785761	98464860	5	24433										
RYR2	6262	genome.wustl.edu	37	chr1	237811805	237811805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ccagatcacaaggcagccatGgttttattccttgacagggt	10	10	1	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr1:237811805G>T	ENST00000366574.2	+	49	7721	c.7404G>T	c.(7402-7404)atG>atT	p.M2468I	RYR2_ENST00000542537.1_Missense_Mutation_p.M2452I|RYR2_ENST00000360064.6_Missense_Mutation_p.M2466I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2468	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCAGCCATGGTTTTATTCC	0.493																																																	0													105	98	100					1																	237811805		1912	4146	6058	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7404G>T	1.37:g.237811805G>T	ENSP00000355533:p.Met2468Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.M2466I	ENST00000366574.2	37	c.7398	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253483	0.80135	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.85411	-1.98;-1.98;-1.98	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	L	0.48174	1.505	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.86682	0.1917	10	0.24483	T	0.36	-23.0094	19.0066	0.92854	0.0:0.0:1.0:0.0	.	2468	Q92736	RYR2_HUMAN	I	2468;2466;2452	ENSP00000355533:M2468I;ENSP00000353174:M2466I;ENSP00000443798:M2452I	ENSP00000353174:M2466I	M	+	3	0	RYR2	235878428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.563000	0.86464	0.655000	0.94253	ATG	RYR2	-	NULL		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237811805	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237811805	G	T	237811805	3	4	148	1	0	0	0	0	1	0	0	0	13799	1348	47	4	7598	4	RYR2	1	237811805	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	87026044	237811805	11438816	6	24434										
SNTG2	54221	genome.wustl.edu	37	chr2	1271336	1271336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	cacgttcatggaagttcagaGaaccggggtaagtgaacaac	12	8	2	2	rs372191385		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr2:1271336G>A	ENST00000308624.5	+	14	1406	c.1277G>A	c.(1276-1278)aGa>aAa	p.R426K	SNTG2_ENST00000407292.1_Missense_Mutation_p.R299K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	426					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAAGTTCAGAGAACCGGGGTA	0.527																																																	0								G	LYS/ARG	0,3892		0,0,1946	33	33	33		1277	4.6	0.2	2		33	1,8283		0,1,4141	no	missense	SNTG2	NM_018968.3	26	0,1,6087	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	426/540	1271336	1,12175	1946	4142	6088	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1277G>A	2.37:g.1271336G>A	ENSP00000311837:p.Arg426Lys		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R426K	ENST00000308624.5	37	c.1277	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905003	0.33628	0.0	1.21E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.76839	-1.05;-1.05	4.61	4.61	0.57282	.	0.051875	0.64402	D	0.000001	D	0.82917	0.5141	L	0.46947	1.48	0.52501	D	0.999958	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.978	T	0.78738	-0.2087	10	0.13470	T	0.59	.	17.0422	0.86492	0.0:0.0:1.0:0.0	.	299;426	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	K	426;299	ENSP00000311837:R426K;ENSP00000385020:R299K	ENSP00000311837:R426K	R	+	2	0	SNTG2	1253917	1.000000	0.71417	0.206000	0.23566	0.006000	0.05464	9.007000	0.93597	2.076000	0.62316	0.655000	0.94253	AGA	SNTG2	-	NULL		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1271336	1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1271336	G	A	1271336	3	1	148	1	0	0	0	0	1	0	0	0	14905	942	33	1	1331	1	SNTG2	2	1271336	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		1271336	241928037	7	24435										
PDIA6	10130	genome.wustl.edu	37	chr2	10925075	10925075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ctcacctcgccatccctgccGtcccaaggctctctctcaac	5	21	3	0	rs148800384	byFrequency	TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr2:10925075G>T	ENST00000272227.3	-	12	1386	c.1239C>A	c.(1237-1239)gaC>gaA	p.D413E	PDIA6_ENST00000404824.2_Missense_Mutation_p.D461E|ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000540494.1_Missense_Mutation_p.D410E|PDIA6_ENST00000381611.4_Missense_Mutation_p.D418E|PDIA6_ENST00000404371.2_Missense_Mutation_p.D465E	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	413					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CATCCCTGCCGTCCCAAGGCT	0.597																																					GBM(73;509 1219 34219 41343 41551)												0													34	29	31					2																	10925075		2201	4293	6494	SO:0001583	missense	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1239C>A	2.37:g.10925075G>T	ENSP00000272227:p.Asp413Glu		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.D418E	ENST00000272227.3	37	c.1254	CCDS1675.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483851	0.84854	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.08807	3.17;3.1;3.05;3.21;3.14	5.72	-10.4	0.00318	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.997	D;D;D;D	0.91635	0.985;0.999;0.954;0.988	T	0.71441	-0.4592	10	0.87932	D	0	.	23.0656	0.99979	0.891:0.0:0.109:0.0	.	410;461;465;413	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	E	413;465;461;410;418	ENSP00000272227:D413E;ENSP00000385385:D465E;ENSP00000384459:D461E;ENSP00000438778:D410E;ENSP00000371024:D418E	ENSP00000272227:D413E	D	-	3	2	PDIA6	10842526	0.957000	0.32711	0.124000	0.21820	0.969000	0.65631	0.178000	0.16820	-2.445000	0.00547	-0.794000	0.03295	GAC	PDIA6	-	NULL		0.597	PDIA6-001	KNOWN	basic|CCDS	protein_coding	PDIA6	HGNC	protein_coding	OTTHUMT00000206933.1	G	NM_005742		10925075	-1	no_errors	ENST00000381611	ensembl	human	known	70_37	missense	SNP	0.757	T	T	10925075	G	T	10925075	3	4	148	1	0	0	0	0	1	0	0	0	11696	1136	40	2	91	2	PDIA6	2	10925075	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	9653739	10925075	232274298	8	24436										
LRPPRC	10128	genome.wustl.edu	37	chr2	44175557	44175557	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	aaacgaaatggtaccatcttCtccagctgatggaagtattg	9	8	2	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr2:44175557C>T	ENST00000260665.7	-	17	1893	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	612					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTACCATCTTCTCCAGCTGAT	0.398																																																	0													122	107	112					2																	44175557		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1836G>A	2.37:g.44175557C>T			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E612	ENST00000260665.7	37	c.1836	CCDS33189.1	2																																																																																			LRPPRC	-	NULL		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44175557	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44175557	C	T	44175557	2	4	148	1	0	0	0	0	0	0	0	1	8988	912	32	1		1	LRPPRC	2	44175557	Silent	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	33250482	44175557	199023816	9	24437			1	107		2	2	25	C		4.651544e-05
LRPPRC	10128	genome.wustl.edu	37	chr2	44175581	44175581	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	agctgatggaagtattgtctCaaatgctcctccttggcctg	10	10	1	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr2:44175581C>G	ENST00000260665.7	-	17	1869	c.1812G>C	c.(1810-1812)ttG>ttC	p.L604F		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	604					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTATTGTCTCAAATGCTCCT	0.398																																																	0													128	113	118					2																	44175581		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1812G>C	2.37:g.44175581C>G	ENSP00000260665:p.Leu604Phe		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.L604F	ENST00000260665.7	37	c.1812	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926404	0.52759	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.73575	-0.76	5.72	4.85	0.62838	.	0.072259	0.56097	D	0.000023	D	0.85212	0.5645	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.72075	0.833;0.976	D	0.83983	0.0333	10	0.25106	T	0.35	-9.5307	16.6523	0.85219	0.131:0.869:0.0:0.0	.	504;604	F5H4J6;P42704	.;LPPRC_HUMAN	F	504;604	ENSP00000260665:L604F	ENSP00000260665:L604F	L	-	3	2	LRPPRC	44029085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.342000	0.59341	1.574000	0.49760	-0.127000	0.14921	TTG	LRPPRC	-	NULL		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44175581	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44175581	C	G	44175581	3	3	148	1	0	0	0	0	1	0	0	0	8988	825	29	1	2460	1	LRPPRC	2	44175581	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	24	44175581	199023792	10	24438			1	107		2	2	25	C		4.651544e-05
POTEE	445582	genome.wustl.edu	37	chr2	131976013	131976013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ttccatgccggctgcctcttCtgtgaagaagccatttggtc	10	12	2	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr2:131976013C>T	ENST00000356920.5	+	1	132	c.38C>T	c.(37-39)tCt>tTt	p.S13F	POTEE_ENST00000358087.5_Missense_Mutation_p.S13F|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	13					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCTGCCTCTTCTGTGAAGAAG	0.542																																																	0													24	32	29					2																	131976013		2118	4248	6366	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.38C>T	2.37:g.131976013C>T	ENSP00000439189:p.Ser13Phe		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.S13F	ENST00000356920.5	37	c.38	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	3.412	-0.119930	0.06838	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80033	-1.33;1.4	.	.	.	.	.	.	.	.	T	0.59335	0.2186	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48969	-0.8987	7	0.48119	T	0.1	.	.	.	.	.	13	Q6S8J3	POTEE_HUMAN	F	13	ENSP00000439189:S13F;ENSP00000443049:S13F	ENSP00000439189:S13F	S	+	2	0	AC131180.1	131692483	0.000000	0.05858	0.049000	0.19019	0.049000	0.14656	-0.917000	0.04025	0.159000	0.19401	0.162000	0.16502	TCT	POTEE	-	NULL		0.542	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		C	NM_001083538		131976013	1	no_errors	ENST00000356920	ensembl	human	known	70_37	missense	SNP	0.054	T	T	131976013	C	T	131976013	3	4	148	1	0	0	0	0	1	0	0	0	12288	913	32	1	40	1	POTEE	2	131976013	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	87800432	131976013	111223360	11	24439										
FEZF2	55079	genome.wustl.edu	37	chr3	62357289	62357289	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	actttgcacacgaacggtctGgctccggtgtggaccggcat	13	12	1	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr3:62357289G>T	ENST00000283268.3	-	3	1200	c.906C>A	c.(904-906)gcC>gcA	p.A302A	PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000475839.1_Silent_p.A302A|FEZF2_ENST00000486811.1_Silent_p.A302A|PTPRG-AS1_ENST00000495542.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	302					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGAACGGTCTGGCTCCGGTGT	0.602																																					NSCLC(170;1772 2053 12525 15604 23984)												0													68	68	68					3																	62357289		2203	4300	6503	SO:0001819	synonymous_variant	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.906C>A	3.37:g.62357289G>T			A8K349|Q9BZ91|Q9NWB9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A302	ENST00000283268.3	37	c.906	CCDS2897.1	3																																																																																			FEZF2	-	pfscan_Znf_C2H2		0.602	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	G	NM_018008		62357289	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62357289	G	T	62357289	2	4	148	1	0	0	0	0	0	0	0	1	5844	1335	47	4		4	FEZF2	3	62357289	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		62357289	135665141	12	24440										
ATP11B	23200	genome.wustl.edu	37	chr3	182566281	182566281	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	caggtgttgcggtatacactGgaatggaaactaagatggca	13	6	0	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr3:182566281G>T	ENST00000323116.5	+	10	1047	c.787G>T	c.(787-789)Gga>Tga	p.G263*	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	263					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GGTATACACTGGAATGGAAAC	0.294																																																	0													59	61	60					3																	182566281		2203	4297	6500	SO:0001587	stop_gained	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.787G>T	3.37:g.182566281G>T	ENSP00000321195:p.Gly263*		Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G263*	ENST00000323116.5	37	c.787	CCDS33896.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.619308	0.97709	.	.	ENSG00000058063	ENST00000323116	.	.	.	5.4	5.4	0.78164	.	0.055536	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2267	0.93820	0.0:0.0:1.0:0.0	.	.	.	.	X	263	.	ENSP00000321195:G263X	G	+	1	0	ATP11B	184048975	1.000000	0.71417	0.999000	0.59377	0.807000	0.45602	9.309000	0.96252	2.563000	0.86464	0.551000	0.68910	GGA	ATP11B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.294	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	G	NM_014616		182566281	1	no_errors	ENST00000323116	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	182566281	G	T	182566281	4	4	148	1	0	0	0	0	0	1	0	0	1121	1349	47	4	825	4	ATP11B	3	182566281	Nonsense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	120208992	182566281	15456149	13	24441										
TCTEX1D2	255758	genome.wustl.edu	37	chr3	196042995	196042995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	atttatctttaatgttttctGataaatgttttgtaagctga	6	3	2	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr3:196042995G>A	ENST00000325318.5	-	2	356	c.221C>T	c.(220-222)tCa>tTa	p.S74L	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR|TM4SF19-AS1_ENST00000452051.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S74L	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	74										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AATGTTTTCTGATAAATGTTT	0.393																																																	0													119	110	113					3																	196042995		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.221C>T	3.37:g.196042995G>A	ENSP00000324323:p.Ser74Leu		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S74L	ENST00000325318.5	37	c.221	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443109	0.83993	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.28666	1.6	5.56	4.69	0.59074	.	0.120685	0.33753	U	0.004588	T	0.51109	0.1655	M	0.87682	2.9	0.80722	D	1	P	0.47253	0.892	P	0.52031	0.688	T	0.59434	-0.7455	10	0.72032	D	0.01	0.0105	12.076	0.53644	0.0834:0.0:0.9166:0.0	.	74	Q8WW35	TC1D2_HUMAN	L	74	ENSP00000324323:S74L	ENSP00000324323:S74L	S	-	2	0	TCTEX1D2	197527392	1.000000	0.71417	0.908000	0.35775	0.969000	0.65631	6.379000	0.73154	1.338000	0.45544	0.561000	0.74099	TCA	TCTEX1D2	-	pfam_Tctex		0.393	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196042995	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196042995	G	A	196042995	3	1	148	1	0	0	0	0	1	0	0	0	15750	1294	45	1	223	1	TCTEX1D2	3	196042995	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	13476714	196042995	1979435	14	24442										
C3orf34	84984	genome.wustl.edu	37	chr3	196434423	196434423	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	atgttttgagtgtttggtatCagaactcatcagctgactct	9	7	4	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr3:196434423C>T	ENST00000399942.4	-	2	680	c.386G>A	c.(385-387)tGa>tAa	p.*129*	CEP19_ENST00000409690.3_Silent_p.*168*|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	0						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						TGTTTGGTATCAGAACTCATC	0.408																																																	0													84	81	82					3																	196434423		1934	4158	6092	SO:0001819	synonymous_variant	84984			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"chromosome 3 open reading frame 34"	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.386G>A	3.37:g.196434423C>T			B2RA74|Q96I48	Silent	SNP	NULL	p.*168	ENST00000399942.4	37	c.503		3																																																																																			CEP19	-	NULL		0.408	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CEP19	HGNC	protein_coding	OTTHUMT00000333081.1	C	NM_032898		196434423	-1	no_errors	ENST00000409690	ensembl	human	known	70_37	silent	SNP	1.000	T	T	196434423	C	T	196434423	2	4	148	1	0	0	0	0	0	0	0	1	2229	837	29	1		1	C3orf34	3	196434423	Silent	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	391428	196434423	1588007	15	24443										
NFXL1	152518	genome.wustl.edu	37	chr4	47850303	47850303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gccacttcatctcttttcctGttcttcttccgacgaccctt	4	16	4	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr4:47850303G>T	ENST00000507489.1	-	23	2789	c.2613C>A	c.(2611-2613)aaC>aaA	p.N871K	NFXL1_ENST00000381538.3_Missense_Mutation_p.N871K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	871						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTCTTTTCCTGTTCTTCTTCC	0.358																																																	0													167	157	161					4																	47850303		2203	4300	6503	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2613C>A	4.37:g.47850303G>T	ENSP00000422037:p.Asn871Lys		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.N871K	ENST00000507489.1	37	c.2613	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	8.316	0.823219	0.16678	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.20598	2.06;2.06	5.66	4.82	0.62117	.	0.156296	0.43579	D	0.000549	T	0.11153	0.0272	N	0.20401	0.57	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.02654	T	1	-11.1519	10.5156	0.44887	0.0748:0.1704:0.7547:0.0	.	871	Q6ZNB6	NFXL1_HUMAN	K	871	ENSP00000370949:N871K;ENSP00000422037:N871K	ENSP00000370949:N871K	N	-	3	2	NFXL1	47545060	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.593000	0.46180	1.395000	0.46643	0.650000	0.86243	AAC	NFXL1	-	NULL		0.358	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	G	NM_152995		47850303	-1	no_errors	ENST00000381538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47850303	G	T	47850303	3	4	148	1	0	0	0	0	1	0	0	0	10412	1368	48	4	126	4	NFXL1	4	47850303	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		47850303	143303973	16	24444										
FAT4	79633	genome.wustl.edu	37	chr4	126369744	126369744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tgaggggagccattatggccGccggaccactaaacggagct	14	11	0	1	rs201007539		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr4:126369744G>A	ENST00000394329.3	+	9	7586	c.7573G>A	c.(7573-7575)Gcc>Acc	p.A2525T	FAT4_ENST00000335110.5_Missense_Mutation_p.A823T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2525	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTATGGCCGCCGGACCACT	0.418																																																	0													65	67	66					4																	126369744		2203	4299	6502	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7573G>A	4.37:g.126369744G>A	ENSP00000377862:p.Ala2525Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2525T	ENST00000394329.3	37	c.7573	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639072	0.47153	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.48522	0.81;0.81	5.72	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.40694	0.1127	L	0.37561	1.115	0.43338	D	0.995382	D;B;B	0.55605	0.972;0.004;0.003	P;B;B	0.45099	0.469;0.004;0.002	T	0.15521	-1.0434	10	0.15066	T	0.55	.	14.9437	0.71014	0.0685:0.0:0.9315:0.0	.	823;2525;2525	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	2525;823	ENSP00000377862:A2525T;ENSP00000335169:A823T	ENSP00000335169:A823T	A	+	1	0	FAT4	126589194	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.440000	0.52886	1.441000	0.47550	-0.143000	0.13931	GCC	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126369744	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126369744	G	A	126369744	3	1	148	1	0	0	0	0	1	0	0	0	5710	1087	38	2	7607	2	FAT4	4	126369744	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	78519441	126369744	64784532	17	24445										
PDZD2	23037	genome.wustl.edu	37	chr5	31799444	31799444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gcaggaaggtggggatgggcCggagcagcggctctgccagg	21	9	1	0	rs200755574	byFrequency	TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr5:31799444C>T	ENST00000438447.1	+	2	477	c.89C>T	c.(88-90)cCg>cTg	p.P30L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P30L			O15018	PDZD2_HUMAN	PDZ domain containing 2	30					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGATGGGCCGGAGCAGCGG	0.627																																																	0													55	57	56					5																	31799444		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.89C>T	5.37:g.31799444C>T	ENSP00000402033:p.Pro30Leu		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P30L	ENST00000438447.1	37	c.89	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576734	0.86645	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.63255	-0.03;-0.03	5.67	5.67	0.87782	.	0.000000	0.45606	D	0.000356	T	0.69333	0.3099	N	0.24115	0.695	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.72830	-0.4174	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	30	O15018	PDZD2_HUMAN	L	30	ENSP00000402033:P30L;ENSP00000282493:P30L	ENSP00000282493:P30L	P	+	2	0	PDZD2	31835201	0.887000	0.30362	0.992000	0.48379	0.985000	0.73830	4.911000	0.63328	2.661000	0.90470	0.655000	0.94253	CCG	PDZD2	-	NULL		0.627	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			31799444	1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.996	T	T	31799444	C	T	31799444	3	4	148	1	0	0	0	0	1	0	0	0	11725	652	23	2	91	2	PDZD2	5	31799444	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09		31799444	149115816	18	24446										
TARS	6897	genome.wustl.edu	37	chr5	33467719	33467719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	taatatccgcacaagagacaAtaaggtccacggggaacgca	10	10	0	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr5:33467719A>G	ENST00000265112.3	+	19	2389	c.2078A>G	c.(2077-2079)aAt>aGt	p.N693S	TARS_ENST00000541634.1_Missense_Mutation_p.N589S|TARS_ENST00000455217.2_Missense_Mutation_p.N726S|TARS_ENST00000502553.1_Missense_Mutation_p.N693S|TARS_ENST00000414361.2_Missense_Mutation_p.N572S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	693					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACAAGAGACAATAAGGTCCAC	0.403																																																	0													73	69	70					5																	33467719		2203	4300	6503	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2078A>G	5.37:g.33467719A>G	ENSP00000265112:p.Asn693Ser		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.N693S	ENST00000265112.3	37	c.2078	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	a	17.63	3.437379	0.62955	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.2	5.2	0.72013	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.67700	2.07	0.80722	D	1	B;D;P;D	0.65815	0.097;0.995;0.917;0.99	B;D;P;D	0.72075	0.145;0.976;0.721;0.956	D	0.88757	0.3254	10	0.54805	T	0.06	-31.3738	15.0721	0.72046	1.0:0.0:0.0:0.0	.	572;726;589;693	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	S	693;693;589;726;572	ENSP00000424387:N693S;ENSP00000265112:N693S;ENSP00000438469:N589S;ENSP00000387710:N726S;ENSP00000394291:N572S	ENSP00000265112:N693S	N	+	2	0	TARS	33503476	1.000000	0.71417	0.571000	0.28486	0.917000	0.54804	9.211000	0.95120	1.958000	0.56883	0.455000	0.32223	AAT	TARS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.403	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	A	NM_152295		33467719	1	no_errors	ENST00000265112	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33467719	A	G	33467719	3	3	148	1	0	0	0	0	1	0	0	0	15589	101	4	5	2152	5	TARS	5	33467719	Missense_Mutation	SNP	A	TCGA-IR-A3LB-01A-11D-A243-09	1668275	33467719	147447541	19	24447										
AP3B1	8546	genome.wustl.edu	37	chr5	77330203	77330203	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	accacaactggaaactggcaGtctgagtagaatcacaaaag	9	9	2	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr5:77330203G>T	ENST00000255194.6	-	24	3051	c.2876C>A	c.(2875-2877)aCt>aAt	p.T959N	AP3B1_ENST00000519295.1_Missense_Mutation_p.T910N|AP3B1_ENST00000523204.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	959					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAAACTGGCAGTCTGAGTAGA	0.348									Hermansky-Pudlak syndrome																																								0													80	83	82					5																	77330203		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2876C>A	5.37:g.77330203G>T	ENSP00000255194:p.Thr959Asn		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.T959N	ENST00000255194.6	37	c.2876	CCDS4041.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.68|17.68	3.448416|3.448416	0.63178|0.63178	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000522901|ENST00000255194;ENST00000519295	.|T;T	.|0.54279	.|0.58;0.58	6.05|6.05	5.18|5.18	0.71444|0.71444	.|.	.|0.209202	.|0.50627	.|D	.|0.000103	T|T	0.49847|0.49847	0.1581|0.1581	L|L	0.46157|0.46157	1.445|1.445	0.45995|0.45995	D|D	0.998801|0.998801	.|P	.|0.43169	.|0.8	.|B	.|0.41860	.|0.368	T|T	0.51084|0.51084	-0.8750|-0.8750	5|10	.|0.45353	.|T	.|0.12	-9.7264|-9.7264	15.1332|15.1332	0.72542|0.72542	0.0672:0.0:0.9328:0.0|0.0672:0.0:0.9328:0.0	.|.	.|959	.|O00203	.|AP3B1_HUMAN	M|N	59|959;910	.|ENSP00000255194:T959N;ENSP00000430597:T910N	.|ENSP00000255194:T959N	L|T	-|-	1|2	2|0	AP3B1|AP3B1	77365959|77365959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.481000|4.481000	0.60250|0.60250	1.576000|1.576000	0.49790|0.49790	0.650000|0.650000	0.86243|0.86243	CTG|ACT	AP3B1	-	pirsf_AP3_beta		0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	G			77330203	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77330203	G	T	77330203	3	4	148	1	0	0	0	0	1	0	0	0	744	1029	36	4	424	4	AP3B1	5	77330203	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	43862484	77330203	103585057	20	24448										
JMY	133746	genome.wustl.edu	37	chr5	78596013	78596013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tggtacagaagcgatagcacGattggatcagttagaagctg	13	6	1	2	rs531886847		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr5:78596013G>A	ENST00000396137.4	+	5	2027	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	522	Interaction with p300/EP300. {ECO:0000250}.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GCGATAGCACGATTGGATCAG	0.373																																																	0													128	119	122					5																	78596013		1870	4115	5985	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1565G>A	5.37:g.78596013G>A	ENSP00000379441:p.Arg522Gln		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.R522Q	ENST00000396137.4	37	c.1565	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430258	0.25726	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.07567	3.18	5.19	-0.836	0.10770	.	0.620426	0.16191	N	0.225396	T	0.07052	0.0179	L	0.55481	1.735	0.09310	N	1	B	0.21381	0.055	B	0.13407	0.009	T	0.28004	-1.0057	10	0.38643	T	0.18	.	4.543	0.12067	0.4812:0.0:0.266:0.2528	.	522	Q8N9B5	JMY_HUMAN	Q	522	ENSP00000379441:R522Q	ENSP00000282259:R522Q	R	+	2	0	JMY	78631769	0.000000	0.05858	0.023000	0.16930	0.919000	0.55068	0.138000	0.16016	0.022000	0.15160	0.557000	0.71058	CGA	JMY	-	NULL		0.373	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	G	NM_152405		78596013	1	no_errors	ENST00000396137	ensembl	human	known	70_37	missense	SNP	0.002	A	A	78596013	G	A	78596013	3	1	148	1	0	0	0	0	1	0	0	0	7977	1058	37	1	1583	1	JMY	5	78596013	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	1265810	78596013	102319247	21	24449										
ZNF474	133923	genome.wustl.edu	37	chr5	121488160	121488160	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	caactaacgaggctgcatttCagagtgcccaggctcagctg	11	12	2	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr5:121488160C>T	ENST00000296600.4	+	2	858	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	159							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GGCTGCATTTCAGAGTGCCCA	0.537																																																	0													64	59	61					5																	121488160		2203	4300	6503	SO:0001587	stop_gained	133923			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.475C>T	5.37:g.121488160C>T	ENSP00000296600:p.Gln159*		A8K4M0|Q96M07	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.Q159*	ENST00000296600.4	37	c.475	CCDS4130.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.040581	0.97226	.	.	ENSG00000164185	ENST00000296600	.	.	.	5.28	5.28	0.74379	.	1.720280	0.02735	N	0.115627	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.0063	9.4467	0.38701	0.1423:0.7837:0.0:0.074	.	.	.	.	X	159	.	ENSP00000296600:Q159X	Q	+	1	0	ZNF474	121516059	0.142000	0.22610	0.911000	0.35937	0.745000	0.42441	0.832000	0.27490	2.624000	0.88883	0.655000	0.94253	CAG	ZNF474	-	NULL		0.537	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF474	HGNC	protein_coding	OTTHUMT00000250883.2	C	NM_207317		121488160	1	no_errors	ENST00000296600	ensembl	human	known	70_37	nonsense	SNP	0.845	T	T	121488160	C	T	121488160	4	4	148	1	0	0	0	0	0	1	0	0	17962	827	29	1	477	1	ZNF474	5	121488160	Nonsense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	42892147	121488160	59427100	22	24450										
PCDHGA11	56105	genome.wustl.edu	37	chr5	140802665	140802665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	cttcgcggtgggggagcacaCgggcgaggtgcgtacagcgc	19	11	0	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr5:140802665C>T	ENST00000398587.2	+	1	1904	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T624M|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCACACGGGCGAGGTG	0.672																																																	0													46	54	51					5																	140802665		2202	4300	6502	SO:0001583	missense	56105			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1871C>T	5.37:g.140802665C>T	ENSP00000381589:p.Thr624Met		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T624M	ENST00000398587.2	37	c.1871	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	c	10.90	1.482433	0.26598	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;D	0.95103	0.36;-3.61	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.452627	0.11810	U	0.527208	D	0.98239	0.9417	M	0.94063	3.49	0.24843	N	0.99245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.99	D	0.93702	0.7016	10	0.87932	D	0	.	19.1082	0.93305	0.0:1.0:0.0:0.0	.	624;624;624	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	624	ENSP00000381589:T624M;ENSP00000428333:T624M	ENSP00000381589:T624M	T	+	2	0	PCDHGA11	140782849	0.000000	0.05858	0.974000	0.42286	0.071000	0.16799	-0.169000	0.09911	2.524000	0.85096	0.561000	0.74099	ACG	PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	C	NM_018914		140802665	1	no_errors	ENST00000398587	ensembl	human	known	70_37	missense	SNP	0.950	T	T	140802665	C	T	140802665	3	4	148	1	0	0	0	0	1	0	0	0	11576	536	19	2	1873	2	PCDHGA11	5	140802665	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	19314505	140802665	40112595	23	24451										
GPR110	266977	genome.wustl.edu	37	chr6	46967979	46967979	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ttattcatttgagacaaactGagttagcatgatgttgtcgg	10	5	1	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr6:46967979G>C	ENST00000371253.2	-	15	2928	c.2713C>G	c.(2713-2715)Cag>Gag	p.Q905E	GPR110_ENST00000283297.5_Missense_Mutation_p.Q708E|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAGACAAACTGAGTTAGCATG	0.323																																																	0													94	94	94					6																	46967979		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2713C>G	6.37:g.46967979G>C	ENSP00000360299:p.Gln905Glu		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.Q905E	ENST00000371253.2	37	c.2713	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168400	0.09339	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.32753	1.45;1.44	5.67	2.76	0.32466	.	0.591478	0.15313	N	0.268976	T	0.10551	0.0258	L	0.50333	1.59	0.24419	N	0.994628	B	0.14438	0.01	B	0.10450	0.005	T	0.20405	-1.0276	10	0.39692	T	0.17	0.1103	5.9341	0.19154	0.0807:0.132:0.6517:0.1356	.	905	Q5T601	GP110_HUMAN	E	905;708	ENSP00000360299:Q905E;ENSP00000283297:Q708E	ENSP00000283297:Q708E	Q	-	1	0	GPR110	47075938	1.000000	0.71417	0.993000	0.49108	0.019000	0.09904	1.302000	0.33459	0.878000	0.35920	-0.797000	0.03246	CAG	GPR110	-	NULL		0.323	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	G	NM_153840		46967979	-1	no_errors	ENST00000371253	ensembl	human	known	70_37	missense	SNP	0.974	C	C	46967979	G	C	46967979	3	2	148	1	0	0	0	0	1	0	0	0	6646	1299	45	1	23	1	GPR110	6	46967979	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		46967979	124147088	24	24452										
OGFRL1	79627	genome.wustl.edu	37	chr6	72011666	72011666	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	aaaaggagagtgtatctcctGagaataacgaagaaggtgga	13	4	1	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr6:72011666G>A	ENST00000370435.4	+	7	1404	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	424						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TGTATCTCCTGAGAATAACGA	0.373																																																	0													95	104	101					6																	72011666		2203	4300	6503	SO:0001583	missense	79627				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1270G>A	6.37:g.72011666G>A	ENSP00000359464:p.Glu424Lys		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.E424K	ENST00000370435.4	37	c.1270	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752958	0.31046	.	.	ENSG00000119900	ENST00000370435	T	0.49720	0.77	5.38	5.38	0.77491	.	0.368951	0.23230	N	0.050479	T	0.26195	0.0639	M	0.61703	1.905	0.19300	N	0.999978	B	0.17852	0.024	B	0.12156	0.007	T	0.03717	-1.1010	10	0.30854	T	0.27	-5.6778	10.31	0.43704	0.1209:0.0:0.8791:0.0	.	424	Q5TC84	OGRL1_HUMAN	K	424	ENSP00000359464:E424K	ENSP00000359464:E424K	E	+	1	0	OGFRL1	72068387	0.995000	0.38212	0.038000	0.18304	0.027000	0.11550	2.572000	0.45999	2.520000	0.84964	0.563000	0.77884	GAG	OGFRL1	-	NULL		0.373	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	G	NM_024576		72011666	1	no_errors	ENST00000370435	ensembl	human	known	70_37	missense	SNP	0.275	A	A	72011666	G	A	72011666	3	1	148	1	0	0	0	0	1	0	0	0	10868	1291	45	1	1296	1	OGFRL1	6	72011666	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	25043687	72011666	99103401	25	24453										
PNLDC1	154197	genome.wustl.edu	37	chr6	160240108	160240108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ctgcaagtttgatgtcaggcGactcacaagaagccagttct	10	10	3	2	rs143586629		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr6:160240108G>A	ENST00000610273.1	+	17	1526	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	PNLDC1_ENST00000392167.3_Missense_Mutation_p.R463Q	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	452						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GATGTCAGGCGACTCACAAGA	0.527																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93	89	90		1355	3.7	0.1	6	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLDC1	NM_173516.1	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	452/521	160240108	2,13004	2203	4300	6503	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1355G>A	6.37:g.160240108G>A	ENSP00000476448:p.Arg452Gln		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.R452Q	ENST00000610273.1	37	c.1355	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918779	0.33908	2.27E-4	1.16E-4	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	3.67	0.42095	.	0.133611	0.34268	N	0.004109	T	0.29321	0.0730	L	0.27053	0.805	0.21355	N	0.999715	D;D	0.89917	1.0;0.998	D;P	0.65323	0.934;0.608	T	0.05784	-1.0864	9	0.18710	T	0.47	.	11.4611	0.50211	0.0862:0.0:0.9138:0.0	.	463;452	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	Q	452;463	.	ENSP00000275275:R452Q	R	+	2	0	PNLDC1	160160098	0.984000	0.35163	0.062000	0.19696	0.085000	0.17905	2.499000	0.45372	2.360000	0.80028	0.462000	0.41574	CGA	PNLDC1	-	NULL		0.527	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		G	NM_173516		160240108	1	no_errors	ENST00000275275	ensembl	human	known	70_37	missense	SNP	0.010	A	A	160240108	G	A	160240108	3	1	148	1	0	0	0	0	1	0	0	0	12172	1058	37	1	1417	1	PNLDC1	6	160240108	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	88228442	160240108	10874959	26	24454										
TBX20	57057	genome.wustl.edu	37	chr7	35288353	35288353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ggaccggtggtaggcgtagcGgtacctcttgttgtccacag	15	10	1	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr7:35288353G>A	ENST00000408931.3	-	3	1007	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	161					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TAGGCGTAGCGGTACCTCTTG	0.577																																																	0													96	88	91					7																	35288353		2203	4300	6503	SO:0001583	missense	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.481C>T	7.37:g.35288353G>A	ENSP00000386170:p.Arg161Cys		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R161C	ENST00000408931.3	37	c.481	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397768	0.83120	.	.	ENSG00000164532	ENST00000408931	D	0.90324	-2.65	5.87	4.95	0.65309	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96926	0.8996	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97340	0.9956	10	0.87932	D	0	.	13.9896	0.64357	0.0:0.0:0.7421:0.2579	.	161	Q9UMR3	TBX20_HUMAN	C	161	ENSP00000386170:R161C	ENSP00000386170:R161C	R	-	1	0	TBX20	35254878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.047000	0.57383	2.941000	0.99782	0.655000	0.94253	CGC	TBX20	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.577	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	G	NM_020417		35288353	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35288353	G	A	35288353	3	1	148	1	0	0	0	0	1	0	0	0	15686	1116	39	2	887	2	TBX20	7	35288353	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		35288353	123850310	27	24455										
CPSF4	10898	genome.wustl.edu	37	chr7	99036745	99036745	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gcgtggaccacatcaagtttGacttggagatcgcggtggag	15	8	1	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr7:99036745G>A	ENST00000292476.5	+	1	50	c.40G>A	c.(40-42)Gac>Aac	p.D14N	PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.D14N|CPSF4_ENST00000436336.2_Missense_Mutation_p.D14N|PTCD1_ENST00000292478.4_5'Flank|CPSF4_ENST00000441580.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	14					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATCAAGTTTGACTTGGAGAT	0.706																																																	0													21	26	25					7																	99036745		2202	4298	6500	SO:0001583	missense	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.40G>A	7.37:g.99036745G>A	ENSP00000292476:p.Asp14Asn		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D14N	ENST00000292476.5	37	c.40	CCDS5664.1	7	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378293	0.61735	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476	T;T;T	0.25912	1.77;1.87;1.81	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	L	0.53249	1.67	0.80722	D	1	B;B;B	0.27316	0.011;0.175;0.02	B;B;B	0.27170	0.029;0.077;0.029	T	0.13602	-1.0503	10	0.48119	T	0.1	-10.4915	16.4633	0.84071	0.0:0.0:1.0:0.0	.	14;14;14	O95639-3;O95639;O95639-2	.;CPSF4_HUMAN;.	N	14	ENSP00000395311:D14N;ENSP00000396060:D14N;ENSP00000292476:D14N	ENSP00000292476:D14N	D	+	1	0	CPSF4	98874681	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.037000	0.76531	2.097000	0.63578	0.637000	0.83480	GAC	CPSF4	-	NULL		0.706	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	G			99036745	1	no_errors	ENST00000292476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99036745	G	A	99036745	3	1	148	1	0	0	0	0	1	0	0	0	3833	1290	45	1	42	1	CPSF4	7	99036745	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	63748392	99036745	60101918	28	24456										
CALB1	793	genome.wustl.edu	37	chr8	91094283	91094283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	cttctttcgcgcctgctggaGctcctggatcaagttctgca	10	13	3	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr8:91094283G>A	ENST00000265431.3	-	2	308	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	43	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GCCTGCTGGAGCTCCTGGATC	0.438																																					Melanoma(46;573 1182 27367 39727 48386)												0													115	121	119					8																	91094283		2203	4300	6503	SO:0001583	missense	793				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.127C>T	8.37:g.91094283G>A	ENSP00000265431:p.Leu43Phe		B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L43F	ENST00000265431.3	37	c.127	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637742	0.67130	.	.	ENSG00000104327	ENST00000265431	T	0.70749	-0.51	5.48	5.48	0.80851	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.69142	0.3078	M	0.75447	2.3	0.80722	D	1	B	0.14012	0.009	B	0.21151	0.033	T	0.65606	-0.6127	10	0.40728	T	0.16	-8.7259	10.7094	0.45973	0.0876:0.0:0.9124:0.0	.	43	P05937	CALB1_HUMAN	F	43	ENSP00000265431:L43F	ENSP00000265431:L43F	L	-	1	0	CALB1	91163459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.650000	0.54424	2.744000	0.94065	0.563000	0.77884	CTC	CALB1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.438	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2	G	NM_004929		91094283	-1	no_errors	ENST00000265431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91094283	G	A	91094283	3	1	148	1	0	0	0	0	1	0	0	0	2578	971	34	4	698	4	CALB1	8	91094283	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		91094283	55269739	29	24457										
GDF6	392255	genome.wustl.edu	37	chr8	97156955	97156955	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gttcatcagcgtctggatgaTggcgtggttggtgggctcca	16	8	3	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr8:97156955T>G	ENST00000287020.5	-	2	1303	c.1204A>C	c.(1204-1206)Atc>Ctc	p.I402L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	402					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTCTGGATGATGGCGTGGTTG	0.617																																																	0													113	105	108					8																	97156955		2203	4300	6503	SO:0001583	missense	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1204A>C	8.37:g.97156955T>G	ENSP00000287020:p.Ile402Leu		Q6PI58	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.I402L	ENST00000287020.5	37	c.1204	CCDS34926.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.7|26.7	4.763048|4.763048	0.89932|0.89932	.|.	.|.	ENSG00000156466|ENSG00000156466	ENST00000435084|ENST00000287020	.|D	.|0.84298	.|-1.83	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Transforming growth factor-beta, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91277|0.91277	0.7250|0.7250	M|M	0.62266|0.62266	1.93|1.93	0.54753|0.54753	D|D	0.999985|0.999985	.|P	.|0.39071	.|0.658	.|D	.|0.66847	.|0.947	D|D	0.91922|0.91922	0.5548|0.5548	6|10	0.15499|0.87932	T|D	0.54|0	.|.	13.5269|13.5269	0.61601|0.61601	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|402	.|Q6KF10	.|GDF6_HUMAN	P|L	318|402	.|ENSP00000287020:I402L	ENSP00000412749:H318P|ENSP00000287020:I402L	H|I	-|-	2|1	0|0	GDF6|GDF6	97226131|97226131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.970000|4.970000	0.63742|0.63742	2.023000|2.023000	0.59567|0.59567	0.455000|0.455000	0.32223|0.32223	CAT|ATC	GDF6	-	pfam_TGF-b_C,smart_TGF-b_C		0.617	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	T	NM_001001557		97156955	-1	no_errors	ENST00000287020	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97156955	T	G	97156955	3	3	148	1	0	0	0	0	1	0	0	0	6336	1464	51	5	167	5	GDF6	8	97156955	Missense_Mutation	SNP	T	TCGA-IR-A3LB-01A-11D-A243-09	6062672	97156955	49207067	30	24458										
SVEP1	79987	genome.wustl.edu	37	chr9	113170065	113170065	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tctattggcatacatgttggGatggaacttgaccatcctga	10	8	1	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr9:113170065G>A	ENST00000401783.2	-	38	8151	c.7815C>T	c.(7813-7815)atC>atT	p.I2605I	SVEP1_ENST00000374469.1_Silent_p.I2582I|SVEP1_ENST00000297826.5_Silent_p.I531I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2605	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACATGTTGGGATGGAACTTG	0.468																																																	0													144	144	144					9																	113170065		1978	4170	6148	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7815C>T	9.37:g.113170065G>A			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.I2605	ENST00000401783.2	37	c.7815	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		G			113170065	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	silent	SNP	0.198	A	A	113170065	G	A	113170065	2	1	148	1	0	0	0	0	0	0	0	1	15450	1164	41	1		1	SVEP1	9	113170065	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		113170065	28043366	31	24459										
ASTN2	23245	genome.wustl.edu	37	chr9	119495716	119495716	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ctggaaggggctcggagaggAccccccggcactgctcctcc	14	16	0	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr9:119495716A>T	ENST00000313400.4	-	14	2583	c.2483T>A	c.(2482-2484)gTc>gAc	p.V828D	ASTN2_ENST00000373996.3_Missense_Mutation_p.V824D|ASTN2_ENST00000361209.2_Missense_Mutation_p.V777D|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	828					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCGGAGAGGACCCCCCGGCA	0.612																																																	0													92	99	96					9																	119495716		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2483T>A	9.37:g.119495716A>T	ENSP00000314038:p.Val828Asp		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.V828D	ENST00000313400.4	37	c.2483		9	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983026	0.34942	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	N	0.14661	0.345	0.80722	D	1	P;D;P	0.71674	0.885;0.998;0.745	B;D;P	0.63381	0.31;0.914;0.458	T	0.35599	-0.9782	9	.	.	.	-25.8396	14.3504	0.66697	1.0:0.0:0.0:0.0	.	777;828;824	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	D	828;824;551;777	ENSP00000314038:V828D;ENSP00000363108:V824D;ENSP00000363098:V551D;ENSP00000354504:V777D	.	V	-	2	0	ASTN2	118535537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.236000	0.78154	1.797000	0.52628	0.459000	0.35465	GTC	ASTN2	-	NULL		0.612	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		A	NM_014010		119495716	-1	no_errors	ENST00000313400	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119495716	A	T	119495716	3	4	148	1	0	0	0	0	1	0	0	0	1066	275	10	5	1808	5	ASTN2	9	119495716	Missense_Mutation	SNP	A	TCGA-IR-A3LB-01A-11D-A243-09	6325651	119495716	21717715	32	24460										
DOLK	22845	genome.wustl.edu	37	chr9	131708526	131708526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gagcagtggccggtcaaagaTgatacctgggatgtaggtgg	17	6	1	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr9:131708526T>C	ENST00000372586.3	-	1	1372	c.1057A>G	c.(1057-1059)Atc>Gtc	p.I353V	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	353					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGTCAAAGATGATACCTGGG	0.552																																																	0													125	139	134					9																	131708526		2203	4300	6503	SO:0001583	missense	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1057A>G	9.37:g.131708526T>C	ENSP00000361667:p.Ile353Val		Q5SRE6	Missense_Mutation	SNP	NULL	p.I353V	ENST00000372586.3	37	c.1057	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	T	8.590	0.884301	0.17467	.	.	ENSG00000175283	ENST00000372586	T	0.50277	0.75	5.23	0.295	0.15752	.	0.210138	0.35349	N	0.003262	T	0.30510	0.0767	L	0.38953	1.18	0.36277	D	0.85552	B	0.06786	0.001	B	0.09377	0.004	T	0.08534	-1.0717	10	0.35671	T	0.21	-7.7623	5.2547	0.15540	0.0:0.3162:0.1462:0.5376	.	353	Q9UPQ8	DOLK_HUMAN	V	353	ENSP00000361667:I353V	ENSP00000361667:I353V	I	-	1	0	DOLK	130748347	0.533000	0.26354	0.996000	0.52242	0.995000	0.86356	0.329000	0.19698	0.019000	0.15079	0.379000	0.24179	ATC	DOLK	-	NULL		0.552	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	T	NM_014908		131708526	-1	no_errors	ENST00000372586	ensembl	human	known	70_37	missense	SNP	0.938	C	C	131708526	T	C	131708526	3	2	148	1	0	0	0	0	1	0	0	0	4713	1464	51	5	563	5	DOLK	9	131708526	Missense_Mutation	SNP	T	TCGA-IR-A3LB-01A-11D-A243-09	12212810	131708526	9504905	33	24461										
KIF5B	3799	genome.wustl.edu	37	chr10	32311953	32311953	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tcttcatctatcatgccagtTccctcaggctgctgtaagga	8	12	5	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr10:32311953T>A	ENST00000302418.4	-	16	2194	c.1737A>T	c.(1735-1737)ggA>ggT	p.G579G	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	579					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCATGCCAGTTCCCTCAGGCT	0.328			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													89	79	83					10																	32311953		2203	4300	6503	SO:0001819	synonymous_variant	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1737A>T	10.37:g.32311953T>A			A0AVB2|Q5VZ85	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G579	ENST00000302418.4	37	c.1737	CCDS7171.1	10																																																																																			KIF5B	-	NULL		0.328	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	T	NM_004521		32311953	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	silent	SNP	0.998	A	A	32311953	T	A	32311953	2	1	148	1	0	0	0	0	0	0	0	1	8326	1770	62	5		5	KIF5B	10	32311953	Silent	SNP	T	TCGA-IR-A3LB-01A-11D-A243-09		32311953	103222794	34	24462										
SCUBE2	57758	genome.wustl.edu	37	chr11	9088340	9088340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	acaggagtgctggcacccacCgttcccatggttacaggtca	11	13	1	0	rs146308663	byFrequency	TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr11:9088340C>T	ENST00000309263.3	-	6	736	c.664G>A	c.(664-666)Ggt>Agt	p.G222S	SCUBE2_ENST00000520467.1_Missense_Mutation_p.G222S|SCUBE2_ENST00000457346.2_Missense_Mutation_p.G222S|SCUBE2_ENST00000450649.2_Missense_Mutation_p.G222S|RP11-467K18.2_ENST00000521394.2_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	222	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGGCACCCACCGTTCCCATGG	0.507																																																	0								C	SER/GLY,SER/GLY	0,4402		0,0,2201	104	74	85		664,664	5.9	0.7	11	dbSNP_134	85	8,8584	6.4+/-24.3	0,8,4288	yes	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	56,56	0,8,6489	TT,TC,CC		0.0931,0.0,0.0616	probably-damaging,probably-damaging	222/808,222/972	9088340	8,12986	2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.664G>A	11.37:g.9088340C>T	ENSP00000310658:p.Gly222Ser		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.G222S	ENST00000309263.3	37	c.664		11	.	.	.	.	.	.	.	.	.	.	C	36	5.733007	0.96856	0.0	9.31E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;T	0.84442	-1.33;-1.41;-1.85;-1.49	5.95	5.95	0.96441	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.92446	0.7602	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92181	0.5751	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	222;222;222	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	S	222	ENSP00000390481:G222S;ENSP00000310658:G222S;ENSP00000415187:G222S;ENSP00000429969:G222S	ENSP00000310658:G222S	G	-	1	0	SCUBE2	9044916	1.000000	0.71417	0.721000	0.30653	0.982000	0.71751	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGT	SCUBE2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.507	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9088340	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9088340	C	T	9088340	3	4	148	1	0	0	0	0	1	0	0	0	13975	652	23	2	2494	2	SCUBE2	11	9088340	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09		9088340	125918176	35	24463										
SLC22A12	116085	genome.wustl.edu	37	chr11	64367308	64367308	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gccgccgccccacgctggccGcatccctgttgctggcaggg	14	18	0	0	rs370100606		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr11:64367308G>C	ENST00000377574.1	+	7	1978	c.1231G>C	c.(1231-1233)Gca>Cca	p.A411P	SLC22A12_ENST00000473690.1_Missense_Mutation_p.A190P|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A377P|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A303P|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A303P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	411					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.A411T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACGCTGGCCGCATCCCTGTT	0.642																																																	1	Substitution - Missense(1)	endometrium(1)											30	29	30					11																	64367308		2197	4292	6489	SO:0001583	missense	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1231G>C	11.37:g.64367308G>C	ENSP00000366797:p.Ala411Pro		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A411P	ENST00000377574.1	37	c.1231	CCDS8075.1	11	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298988	0.60195	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.74632	-0.86;0.32;-0.86;-0.86;-0.86	4.72	-0.349	0.12609	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.821884	0.10721	N	0.641693	T	0.76385	0.3980	M	0.77486	2.375	0.09310	N	1	D;P;D	0.52996	0.957;0.924;0.957	P;P;P	0.54590	0.738;0.524;0.756	T	0.62737	-0.6791	10	0.36615	T	0.2	.	0.9386	0.01351	0.3398:0.1657:0.3453:0.1491	.	377;303;411	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	P	303;411;303;190;377	ENSP00000366790:A303P;ENSP00000366797:A411P;ENSP00000366795:A303P;ENSP00000438437:A190P;ENSP00000336836:A377P	ENSP00000336836:A377P	A	+	1	0	SLC22A12	64123884	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.166000	0.16583	-0.399000	0.07668	-0.430000	0.05897	GCA	SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	G	NM_144585		64367308	1	no_errors	ENST00000377574	ensembl	human	known	70_37	missense	SNP	0.000	C	C	64367308	G	C	64367308	3	2	148	1	0	0	0	0	1	0	0	0	14473	1087	38	2	1257	2	SLC22A12	11	64367308	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	55278968	64367308	70639208	36	24464										
EHD1	10938	genome.wustl.edu	37	chr11	64627702	64627702	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tggttcttcagagccttgatCacttccgagaactcatcgga	9	11	4	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr11:64627702C>G	ENST00000320631.3	-	3	863	c.609G>C	c.(607-609)gtG>gtC	p.V203V	EHD1_ENST00000359393.2_Silent_p.V203V	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	203	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GAGCCTTGATCACTTCCGAGA	0.587																																																	0													85	78	80					11																	64627702		2201	4297	6498	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.609G>C	11.37:g.64627702C>G			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.V203	ENST00000320631.3	37	c.609	CCDS8084.1	11																																																																																			EHD1	-	pfam_Dynamin_GTPase		0.587	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	C	NM_006795		64627702	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	1.000	G	G	64627702	C	G	64627702	2	3	148	1	0	0	0	0	0	0	0	1	4987	813	29	1		1	EHD1	11	64627702	Silent	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	260394	64627702	70378814	37	24465										
EHBP1L1	254102	genome.wustl.edu	37	chr11	65349326	65349326	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	aggccagtggggtggacactGagccaaggtcaggaggcaga	18	8	1	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr11:65349326G>A	ENST00000309295.4	+	9	1448	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	395						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGGACACTGAGCCAAGGTC	0.542																																																	0													75	88	84					11																	65349326		2142	4242	6384	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1183G>A	11.37:g.65349326G>A	ENSP00000312671:p.Glu395Lys		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E395K	ENST00000309295.4	37	c.1183	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855305	0.51376	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.81078	-0.13;-1.45	4.17	3.23	0.37069	.	0.710683	0.11610	N	0.546882	T	0.70124	0.3188	L	0.29908	0.895	0.80722	D	1	B;P	0.37466	0.281;0.596	B;B	0.35470	0.075;0.203	T	0.65533	-0.6145	10	0.48119	T	0.1	.	10.8082	0.46531	0.0:0.0:0.809:0.191	.	395;395	E9PIH6;Q8N3D4	.;EH1L1_HUMAN	K	395	ENSP00000312671:E395K;ENSP00000431996:E395K	ENSP00000312671:E395K	E	+	1	0	EHBP1L1	65105902	0.353000	0.24904	0.005000	0.12908	0.106000	0.19336	1.826000	0.39092	0.930000	0.37217	0.561000	0.74099	GAG	EHBP1L1	-	NULL		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	G	XM_170658		65349326	1	no_errors	ENST00000309295	ensembl	human	known	70_37	missense	SNP	0.219	A	A	65349326	G	A	65349326	3	1	148	1	0	0	0	0	1	0	0	0	4986	1291	45	1	1217	1	EHBP1L1	11	65349326	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	721624	65349326	69657190	38	24466										
EHBP1L1	254102	genome.wustl.edu	37	chr11	65349660	65349660	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ggctgctgcaggccaggagaGagagggtgcagaagtgaggg	21	6	0	4			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr11:65349660G>C	ENST00000309295.4	+	9	1782	c.1517G>C	c.(1516-1518)aGa>aCa	p.R506T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	506						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCCAGGAGAGAGAGGGTGCA	0.667																																																	0													18	21	20					11																	65349660		1958	4139	6097	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1517G>C	11.37:g.65349660G>C	ENSP00000312671:p.Arg506Thr		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R506T	ENST00000309295.4	37	c.1517	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268062	0.23136	.	.	ENSG00000173442	ENST00000309295	T	0.69561	-0.41	5.31	0.235	0.15431	.	0.268702	0.27064	N	0.021113	T	0.46249	0.1383	L	0.32530	0.975	0.25247	N	0.989701	B	0.12013	0.005	B	0.08055	0.003	T	0.37244	-0.9714	10	0.72032	D	0.01	.	1.8297	0.03127	0.2128:0.2638:0.3892:0.1343	.	506	Q8N3D4	EH1L1_HUMAN	T	506	ENSP00000312671:R506T	ENSP00000312671:R506T	R	+	2	0	EHBP1L1	65106236	0.071000	0.21146	0.582000	0.28627	0.706000	0.40770	0.185000	0.16958	0.362000	0.24319	0.561000	0.74099	AGA	EHBP1L1	-	NULL		0.667	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	G	XM_170658		65349660	1	no_errors	ENST00000309295	ensembl	human	known	70_37	missense	SNP	0.006	C	C	65349660	G	C	65349660	3	2	148	1	0	0	0	0	1	0	0	0	4986	942	33	1	1551	1	EHBP1L1	11	65349660	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	334	65349660	69656856	39	24467										
MMP12	4321	genome.wustl.edu	37	chr11	102733875	102733875	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tttcagtgttttggtgatacGttggagtaggaagtcatatt	12	3	2	1	rs201220046		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr11:102733875G>T	ENST00000532855.1	-	0	1464							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTGGTGATACGTTGGAGTAGG	0.308																																																	0													162	163	163					11																	102733875		1840	4080	5920			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102733875G>T			B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-		0.308	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	G	NM_002426		102733875	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	rna	SNP	0.005	T	T	102733875	G	T	102733875	1	4	148	0	1	0	0	0	0	0	0	0	9674	1145	40	2		2	MMP12	11	102733875	RNA	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	37384215	102733875	32272641	40	24468										
MLL2	8085	genome.wustl.edu	37	chr12	49447821	49447821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ctgcagtgttttcatggataGgaaggaaccgctggcagtcg	14	8	1	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr12:49447821G>T	ENST00000301067.7	-	5	612	c.613C>A	c.(613-615)Cta>Ata	p.L205I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	205					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTCATGGATAGGAAGGAACCG	0.577																																																	0													62	64	64					12																	49447821		2032	4187	6219	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.613C>A	12.37:g.49447821G>T	ENSP00000301067:p.Leu205Ile		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L205I	ENST00000301067.7	37	c.613	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531203	0.27387	.	.	ENSG00000167548	ENST00000301067	T	0.70749	-0.51	4.92	1.13	0.20643	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.26334	U	0.024973	T	0.60183	0.2249	L	0.37507	1.11	0.23930	N	0.99644	P	0.48589	0.912	P	0.45753	0.492	T	0.55186	-0.8180	10	0.87932	D	0	.	7.0845	0.25249	0.4019:0.0:0.5981:0.0	.	205	O14686	MLL2_HUMAN	I	205	ENSP00000301067:L205I	ENSP00000301067:L205I	L	-	1	2	MLL2	47734088	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.088000	0.50175	0.222000	0.20900	-0.379000	0.06801	CTA	MLL2	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49447821	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49447821	G	T	49447821	3	4	148	1	0	0	0	0	1	0	0	0	9644	991	35	4	16200	4	MLL2	12	49447821	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		49447821	84404074	41	24469										
ANKS1B	56899	genome.wustl.edu	37	chr12	100048924	100048924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	aaagtcctgatggcccacacGtattttcatcatcatcctct	5	13	4	1	rs377459874		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr12:100048924G>A	ENST00000547776.2	-	9	1192	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M	ANKS1B_ENST00000329257.7_Missense_Mutation_p.T398M|ANKS1B_ENST00000547010.1_De_novo_Start_InFrame	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	398						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGCCCACACGTATTTTCATC	0.378													G|||	1	0.000199681	0	0	5008	,	,		16060	0		0.001	False		,,,				2504	0																0								G	MET/THR	1,3821		0,1,1910	119	117	118		1193	3.5	0.2	12		118	1,8241		0,1,4120	no	missense	ANKS1B	NM_152788.4	81	0,2,6030	AA,AG,GG		0.0121,0.0262,0.0166	possibly-damaging	398/1249	100048924	2,12062	1911	4121	6032	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1193C>T	12.37:g.100048924G>A	ENSP00000449629:p.Thr398Met		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.T398M	ENST00000547776.2	37	c.1193	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104632	0.20632	2.62E-4	1.21E-4	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.51071	0.85;0.85;0.72	5.47	3.51	0.40186	.	0.251827	0.30959	N	0.008522	T	0.31104	0.0786	N	0.22421	0.69	0.46078	D	0.998858	P;P	0.51791	0.948;0.913	B;B	0.39876	0.312;0.165	T	0.05971	-1.0853	9	.	.	.	-4.2304	12.7356	0.57222	0.0:0.4365:0.5635:0.0	.	364;398	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	M	398;398;364	ENSP00000449629:T398M;ENSP00000331381:T398M;ENSP00000449894:T364M	.	T	-	2	0	ANKS1B	98573055	1.000000	0.71417	0.180000	0.23079	0.246000	0.25737	2.677000	0.46892	1.292000	0.44672	-0.283000	0.09986	ACG	ANKS1B	-	NULL		0.378	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	G	NM_020140		100048924	-1	no_errors	ENST00000329257	ensembl	human	known	70_37	missense	SNP	0.717	A	A	100048924	G	A	100048924	3	1	148	1	0	0	0	0	1	0	0	0	689	1145	40	2	2913	2	ANKS1B	12	100048924	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	50601103	100048924	33802971	42	24470										
RNF219	79596	genome.wustl.edu	37	chr13	79190472	79190472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tttcaaaatctaagttttggGcatagcttgtggaacaacag	9	6	2	0	rs184991036		TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr13:79190472G>T	ENST00000282003.6	-	6	1482	c.1424C>A	c.(1423-1425)gCc>gAc	p.A475D	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	475	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TAAGTTTTGGGCATAGCTTGT	0.353																																																	0													41	43	42					13																	79190472		2203	4300	6503	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1424C>A	13.37:g.79190472G>T	ENSP00000282003:p.Ala475Asp		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.A475D	ENST00000282003.6	37	c.1424	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	9.312	1.055833	0.19907	.	.	ENSG00000152193	ENST00000282003	T	0.15017	2.46	6.07	3.41	0.39046	.	0.176843	0.40469	N	0.001082	T	0.13072	0.0317	L	0.44542	1.39	0.27946	N	0.93734	B	0.06786	0.001	B	0.06405	0.002	T	0.14448	-1.0472	10	0.33940	T	0.23	-19.0347	6.5807	0.22591	0.1337:0.0:0.6145:0.2518	.	475	Q5W0B1	RN219_HUMAN	D	475	ENSP00000282003:A475D	ENSP00000282003:A475D	A	-	2	0	RNF219	78088473	0.998000	0.40836	1.000000	0.80357	0.868000	0.49771	1.719000	0.38011	0.906000	0.36621	-0.136000	0.14681	GCC	RNF219	-	NULL		0.353	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	G	NM_024546		79190472	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	missense	SNP	0.999	T	T	79190472	G	T	79190472	3	4	148	1	0	0	0	0	1	0	0	0	13512	1203	42	4	760	4	RNF219	13	79190472	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		79190472	35979406	43	24471										
TP53BP1	7158	genome.wustl.edu	37	chr15	43700219	43700219	+	Frame_Shift_Del	DEL	G	G	-													0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gatctcagaccagagctccaGgaagttctgctgttggtctg							TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr15:43700219delG	ENST00000263801.3	-	27	5905	c.5653delC	c.(5653-5655)ctgfs	p.L1885fs	TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.L1890fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.L1888fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.L1840fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1885	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGAGCTCCAGGAAGTTCTGC	0.488								Other conserved DNA damage response genes																																									0													102	98	99					15																	43700219		2201	4298	6499	SO:0001589	frameshift_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5653delC	15.37:g.43700219delG	ENSP00000263801:p.Leu1885fs		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L1890fs	ENST00000263801.3	37	c.5668	CCDS10096.1	15																																																																																			TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.488	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	G			43700219	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	43700219	G	-	43700219	7	5	148	1	0	1	0	1	0	0	0	0	16414	991	35	0	273	0	TP53BP1	15	43700219	Frame_Shift_Del	DEL	G	TCGA-IR-A3LB-01A-11D-A243-09		43700219	58831173	44	24472										
FEM1B	10116	genome.wustl.edu	37	chr15	68582295	68582295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tgcagctgaagctgggcacaTagatattgtgaaagagctga	13	6	0	5			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr15:68582295T>G	ENST00000306917.4	+	2	1214	c.599T>G	c.(598-600)aTa>aGa	p.I200R		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	200					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCTGGGCACATAGATATTGTG	0.463																																																	0													79	72	74					15																	68582295		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.599T>G	15.37:g.68582295T>G	ENSP00000307298:p.Ile200Arg		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I200R	ENST00000306917.4	37	c.599	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540148	0.45176	.	.	ENSG00000169018	ENST00000306917	T	0.65178	-0.14	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.196120	0.46442	D	0.000300	T	0.53769	0.1817	L	0.33624	1.015	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.52245	-0.8601	10	0.72032	D	0.01	-15.5555	15.2704	0.73696	0.0:0.0:0.0:1.0	.	200	Q9UK73	FEM1B_HUMAN	R	200	ENSP00000307298:I200R	ENSP00000307298:I200R	I	+	2	0	FEM1B	66369349	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	6.073000	0.71245	2.194000	0.70268	0.454000	0.30748	ATA	FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	T			68582295	1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68582295	T	G	68582295	3	3	148	1	0	0	0	0	1	0	0	0	5828	1406	49	5	605	5	FEM1B	15	68582295	Missense_Mutation	SNP	T	TCGA-IR-A3LB-01A-11D-A243-09	24882076	68582295	33949097	45	24473										
ADPGK	83440	genome.wustl.edu	37	chr15	73044861	73044861	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tacaatcctggagcctgcctCcgaatgggaagtcatgaact	10	11	1	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr15:73044861C>A	ENST00000311669.8	-	7	1405	c.1312G>T	c.(1312-1314)Gag>Tag	p.E438*	ADPGK_ENST00000456471.2_Nonsense_Mutation_p.E164*	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	439	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GAGCCTGCCTCCGAATGGGAA	0.522																																																	0													95	96	96					15																	73044861		1911	4117	6028	SO:0001587	stop_gained	83440			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1312G>T	15.37:g.73044861C>A	ENSP00000312250:p.Glu438*		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Nonsense_Mutation	SNP	pfam_ADP_PFK/GK	p.E438*	ENST00000311669.8	37	c.1312	CCDS42057.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067230|5.067230	0.93898|0.93898	.|.	.|.	ENSG00000159322|ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471|ENST00000331065	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.228496|.	0.51477|.	D|.	0.000083|.	.|T	.|0.75324	.|0.3834	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75542	.|-0.3281	.|5	0.36615|0.56958	T|D	0.2|0.05	-4.6292|-4.6292	15.9588|15.9588	0.79910|0.79910	0.0:0.866:0.134:0.0|0.0:0.866:0.134:0.0	.|.	.|.	.|.	.|.	X|V	438;358;164|315	.|.	ENSP00000312250:E438X|ENSP00000332964:G315V	E|G	-|-	1|2	0|0	ADPGK|ADPGK	70831914|70831914	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.920000|0.920000	0.55202|0.55202	5.889000|5.889000	0.69766|0.69766	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAG|GGA	ADPGK	-	pfam_ADP_PFK/GK		0.522	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK	HGNC	protein_coding	OTTHUMT00000420434.1	C	NM_031284		73044861	-1	no_errors	ENST00000311669	ensembl	human	known	70_37	nonsense	SNP	0.954	A	A	73044861	C	A	73044861	4	1	148	1	0	0	0	0	0	1	0	0	330	864	30	3	182	3	ADPGK	15	73044861	Nonsense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	4462566	73044861	29486531	46	24474										
GPT2	84706	genome.wustl.edu	37	chr16	46943752	46943752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	agaactgctgggcgctgaatGtgaatgagctccggcgggcg	17	9	0	4			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr16:46943752G>T	ENST00000340124.4	+	6	845	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	GPT2_ENST00000440783.2_Missense_Mutation_p.V145L	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	245					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GGCGCTGAATGTGAATGAGCT	0.557																																																	0													94	86	89					16																	46943752		2203	4300	6503	SO:0001583	missense	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.733G>T	16.37:g.46943752G>T	ENSP00000345282:p.Val245Leu		Q8N9E2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V245L	ENST00000340124.4	37	c.733	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667531	0.29604	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;D	0.90133	-2.62;-2.62	5.15	5.15	0.70609	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123586	0.53938	D	0.000047	D	0.83510	0.5270	N	0.17674	0.51	0.45883	D	0.998731	B	0.10296	0.003	B	0.15052	0.012	T	0.77968	-0.2388	10	0.10111	T	0.7	.	18.8172	0.92081	0.0:0.0:1.0:0.0	.	245	Q8TD30	ALAT2_HUMAN	L	245;145	ENSP00000345282:V245L;ENSP00000413804:V145L	ENSP00000345282:V245L	V	+	1	0	GPT2	45501253	1.000000	0.71417	0.927000	0.36925	0.276000	0.26787	4.087000	0.57671	2.677000	0.91161	0.561000	0.74099	GTG	GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.557	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	G			46943752	1	no_errors	ENST00000340124	ensembl	human	known	70_37	missense	SNP	0.905	T	T	46943752	G	T	46943752	3	4	148	1	0	0	0	0	1	0	0	0	6758	1377	48	4	751	4	GPT2	16	46943752	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		46943752	43411001	47	24475										
VAC14	55697	genome.wustl.edu	37	chr16	70726824	70726824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	catgagcaggccgtagagggCcttgatcaggtaggggttgt	17	7	1	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr16:70726824C>G	ENST00000261776.5	-	18	2346	c.2086G>C	c.(2086-2088)Gcc>Ccc	p.A696P	VAC14_ENST00000571759.1_5'Flank|VAC14_ENST00000536184.2_Missense_Mutation_p.A128P	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	696					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCGTAGAGGGCCTTGATCAGG	0.652																																																	0													65	61	62					16																	70726824		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.2086G>C	16.37:g.70726824C>G	ENSP00000261776:p.Ala696Pro		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.A696P	ENST00000261776.5	37	c.2086	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.512491	0.96402	.	.	ENSG00000103043	ENST00000261776;ENST00000536184	T	0.70164	-0.46	5.24	5.24	0.73138	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.83825	0.0249	10	0.62326	D	0.03	-20.1709	18.8226	0.92103	0.0:1.0:0.0:0.0	.	696	Q08AM6	VAC14_HUMAN	P	696;128	ENSP00000261776:A696P	ENSP00000261776:A696P	A	-	1	0	VAC14	69284325	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.677000	0.84024	2.436000	0.82500	0.561000	0.74099	GCC	VAC14	-	pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold		0.652	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70726824	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70726824	C	G	70726824	3	3	148	1	0	0	0	0	1	0	0	0	17142	739	26	4	270	4	VAC14	16	70726824	Missense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	23783072	70726824	19627929	48	24476										
ZDHHC7	55625	genome.wustl.edu	37	chr16	85011579	85011579	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	aactgaaatccacaaaggatCagagcatggactgaagacag	10	8	1	4			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr16:85011579C>T	ENST00000313732.4	-	6	922	c.570G>A	c.(568-570)ctG>ctA	p.L190L	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Silent_p.L227L	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	190					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						CACAAAGGATCAGAGCATGGA	0.423																																																	0													130	124	126					16																	85011579		2199	4300	6499	SO:0001819	synonymous_variant	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.570G>A	16.37:g.85011579C>T			D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L227	ENST00000313732.4	37	c.681	CCDS10950.1	16																																																																																			ZDHHC7	-	NULL		0.423	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1	C	NM_017740		85011579	-1	no_errors	ENST00000344861	ensembl	human	known	70_37	silent	SNP	0.002	T	T	85011579	C	T	85011579	2	4	148	1	0	0	0	0	0	0	0	1	17650	813	29	1		1	ZDHHC7	16	85011579	Silent	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	14284755	85011579	5343174	49	24477										
GSG2	83903	genome.wustl.edu	37	chr17	3627380	3627380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tcaacagcagcggcagcagcGacgccagcatcggcgacccc	12	17	1	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr17:3627380G>A	ENST00000325418.4	+	1	170	c.151G>A	c.(151-153)Gac>Aac	p.D51N	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'Flank|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	51					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CGGCAGCAGCGACGCCAGCAT	0.746																																																	0													7	11	10					17																	3627380		2099	4147	6246	SO:0001583	missense	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.151G>A	17.37:g.3627380G>A	ENSP00000325290:p.Asp51Asn		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.D51N	ENST00000325418.4	37	c.151	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230423	0.39399	.	.	ENSG00000177602	ENST00000325418	T	0.12569	2.67	3.72	2.65	0.31530	.	0.539990	0.14775	N	0.299167	T	0.09247	0.0228	N	0.24115	0.695	0.22541	N	0.999008	B	0.15473	0.013	B	0.06405	0.002	T	0.25293	-1.0136	10	0.87932	D	0	.	7.4718	0.27353	0.2686:0.0:0.7314:0.0	.	51	Q8TF76	HASP_HUMAN	N	51	ENSP00000325290:D51N	ENSP00000325290:D51N	D	+	1	0	GSG2	3574129	0.000000	0.05858	0.319000	0.25293	0.295000	0.27426	0.363000	0.20301	0.727000	0.32360	0.467000	0.42956	GAC	GSG2	-	NULL		0.746	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	G	NM_031965		3627380	1	no_errors	ENST00000325418	ensembl	human	known	70_37	missense	SNP	0.903	A	A	3627380	G	A	3627380	3	1	148	1	0	0	0	0	1	0	0	0	6842	1058	37	1	153	1	GSG2	17	3627380	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		3627380	77567830	50	24478										
MYO15A	51168	genome.wustl.edu	37	chr17	18055214	18055214	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gaccctcatgaggaggccctGatgatcctgaaagggcagat	13	10	1	5			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr17:18055214G>T	ENST00000205890.5	+	41	8180	c.7842G>T	c.(7840-7842)ctG>ctT	p.L2614L	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2614	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGAGGCCCTGATGATCCTGA	0.592																																																	0													40	44	43					17																	18055214		1978	4160	6138	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7842G>T	17.37:g.18055214G>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L2614	ENST00000205890.5	37	c.7842	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.592	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18055214	1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.987	T	T	18055214	G	T	18055214	2	4	148	1	0	0	0	0	0	0	0	1	10086	1277	45	3		3	MYO15A	17	18055214	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	14427834	18055214	63139996	51	24479										
SSH2	85464	genome.wustl.edu	37	chr17	27977704	27977704	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	atgaatttgtaagtgtcattCcagtacgccaggagatccgt	10	8	1	2			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr17:27977704C>T	ENST00000269033.3	-	12	1264	c.1113G>A	c.(1111-1113)tgG>tgA	p.W371*	SSH2_ENST00000540801.1_Nonsense_Mutation_p.W398*|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	371	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGTGTCATTCCAGTACGCCA	0.443																																																	0													231	199	210					17																	27977704		2203	4300	6503	SO:0001587	stop_gained	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1113G>A	17.37:g.27977704C>T	ENSP00000269033:p.Trp371*		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.W371*	ENST00000269033.3	37	c.1113	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.259192	0.97421	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	.	.	.	5.66	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5048	14.7885	0.69821	0.0:0.9309:0.0:0.0691	.	.	.	.	X	371;398;371	.	ENSP00000269033:W371X	W	-	3	0	SSH2	25001830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	1.539000	0.49286	0.655000	0.94253	TGG	SSH2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.443	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	C	NM_033389		27977704	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27977704	C	T	27977704	4	4	148	1	0	0	0	0	0	1	0	0	15215	856	30	1	3174	1	SSH2	17	27977704	Nonsense_Mutation	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09	9922490	27977704	53217506	52	24480										
C17orf58	284018	genome.wustl.edu	37	chr17	65989227	65989227	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gctaacatgtggactcggaaGaagaagccgtcgggggtgag	17	7	0	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr17:65989227G>A	ENST00000449250.2	-	2	225	c.36C>T	c.(34-36)ttC>ttT	p.F12F	C17orf58_ENST00000334461.7_Silent_p.F12F|C17orf58_ENST00000536693.1_Silent_p.F12F|RP11-855A2.5_ENST00000580729.1_lincRNA			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	12										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGACTCGGAAGAAGAAGCCGT	0.577																																																	0													62	65	64					17																	65989227		1939	4127	6066	SO:0001819	synonymous_variant	284018			AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.36C>T	17.37:g.65989227G>A			A8MQV2	Silent	SNP	superfamily_TIMP-like_OB-fold	p.F12	ENST00000449250.2	37	c.36	CCDS45765.1	17																																																																																			C17orf58	-	superfamily_TIMP-like_OB-fold		0.577	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf58	HGNC	protein_coding	OTTHUMT00000448104.1	G	NM_181656		65989227	-1	no_errors	ENST00000449250	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65989227	G	A	65989227	2	1	148	1	0	0	0	0	0	0	0	1	1870	933	33	1		1	C17orf58	17	65989227	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	38011523	65989227	15205983	53	24481										
DNAI2	64446	genome.wustl.edu	37	chr17	72308204	72308204	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	aggcaccgggagatgcggctGaaggagaagggtaaggcgga	20	6	0	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr17:72308204G>A	ENST00000311014.6	+	12	1624	c.1557G>A	c.(1555-1557)ctG>ctA	p.L519L	DNAI2_ENST00000579490.1_Silent_p.L576L|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Silent_p.L507L|DNAI2_ENST00000307504.5_Silent_p.L376L|DNAI2_ENST00000446837.2_Silent_p.L519L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	519					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGATGCGGCTGAAGGAGAAGG	0.647									Kartagener syndrome																																								0													61	53	56					17																	72308204		2203	4300	6503	SO:0001819	synonymous_variant	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1557G>A	17.37:g.72308204G>A			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L519	ENST00000311014.6	37	c.1557	CCDS11697.1	17																																																																																			DNAI2	-	NULL		0.647	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72308204	1	no_errors	ENST00000311014	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72308204	G	A	72308204	2	1	148	1	0	0	0	0	0	0	0	1	4620	1277	45	1		1	DNAI2	17	72308204	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	6318977	72308204	8887006	54	24482										
PHLPP1	23239	genome.wustl.edu	37	chr18	60645815	60645815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	ttctgctgctgcgagctcagCgccggtggggctgtgccacc	15	14	2	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr18:60645815C>T	ENST00000262719.5	+	17	4539	c.4305C>T	c.(4303-4305)agC>agT	p.S1435S	PHLPP1_ENST00000400316.4_Silent_p.S923S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1435					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCGAGCTCAGCGCCGGTGGGG	0.632																																																	0													23	27	26					18																	60645815		2108	4231	6339	SO:0001819	synonymous_variant	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4305C>T	18.37:g.60645815C>T			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.S1435	ENST00000262719.5	37	c.4305	CCDS45881.2	18																																																																																			PHLPP1	-	NULL		0.632	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	C	NM_194449		60645815	1	no_errors	ENST00000262719	ensembl	human	known	70_37	silent	SNP	0.068	T	T	60645815	C	T	60645815	2	4	148	1	0	0	0	0	0	0	0	1	11878	767	27	2		2	PHLPP1	18	60645815	Silent	SNP	C	TCGA-IR-A3LB-01A-11D-A243-09		60645815	17431433	55	24483										
CAPN12	147968	genome.wustl.edu	37	chr19	39224992	39224992	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	agcagctgctcacaggtcctGagcccgatctctctgggggt	13	13	3	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr19:39224992G>A	ENST00000328867.4	-	16	2090	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	CAPN12_ENST00000601953.1_Silent_p.L445L	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	594	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CACAGGTCCTGAGCCCGATCT	0.607																																																	0													66	63	64					19																	39224992		2201	4296	6497	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1782C>T	19.37:g.39224992G>A				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L594	ENST00000328867.4	37	c.1782	CCDS12519.1	19																																																																																			CAPN12	-	NULL		0.607	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	G			39224992	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39224992	G	A	39224992	2	1	148	1	0	0	0	0	0	0	0	1	2630	1277	45	1		1	CAPN12	19	39224992	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		39224992	19903991	56	24484										
PNKP	11284	genome.wustl.edu	37	chr19	50364613	50364613	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tcagccagcgttggggcctcGaactgcttcctggcagtggt	14	12	1	0			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr19:50364613G>A	ENST00000322344.3	-	17	1567	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	PNKP_ENST00000600573.1_Silent_p.F455F|AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000596014.1_Silent_p.F486F|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000599259.1_RNA|PNKP_ENST00000600910.1_Nonsense_Mutation_p.R450*	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	486	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TTGGGGCCTCGAACTGCTTCC	0.642								Other BER factors																																									0													86	84	85					19																	50364613		2203	4300	6503	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1458C>T	19.37:g.50364613G>A			Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Nonsense_Mutation	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.R450*	ENST00000322344.3	37	c.1348	CCDS12783.1	19																																																																																			PNKP	-	NULL		0.642	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	G	NM_007254		50364613	-1	no_errors	ENST00000600910	ensembl	human	novel	70_37	nonsense	SNP	0.993	A	A	50364613	G	A	50364613	2	1	148	1	0	0	0	0	0	0	0	1	12171	1049	37	1		1	PNKP	19	50364613	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	11139621	50364613	8764370	57	24485										
ZNF614	80110	genome.wustl.edu	37	chr19	52521309	52521309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	atctgttgtccatggttcttGtccatgtgccaacttggaga	10	9	2	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr19:52521309G>T	ENST00000270649.6	-	4	734	c.190C>A	c.(190-192)Caa>Aaa	p.Q64K	ZNF614_ENST00000356322.6_Missense_Mutation_p.Q64K	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CATGGTTCTTGTCCATGTGCC	0.408																																																	0													171	150	157					19																	52521309		2203	4300	6503	SO:0001583	missense	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.190C>A	19.37:g.52521309G>T	ENSP00000270649:p.Gln64Lys		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q64K	ENST00000270649.6	37	c.190	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	G	7.502	0.652817	0.14580	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.05717	6.17;3.4	2.75	-2.83	0.05769	Krueppel-associated box (3);	.	.	.	.	T	0.02848	0.0085	N	0.10972	0.075	0.09310	N	1	B;B	0.15141	0.0;0.012	B;B	0.12837	0.0;0.008	T	0.45279	-0.9272	9	0.28530	T	0.3	.	4.6466	0.12575	0.0:0.4265:0.1937:0.3797	.	64;64	Q8N883;Q9BSN8	ZN614_HUMAN;.	K	64	ENSP00000348674:Q64K;ENSP00000270649:Q64K	ENSP00000270649:Q64K	Q	-	1	0	ZNF614	57213121	0.001000	0.12720	0.001000	0.08648	0.688000	0.40055	-0.022000	0.12480	-0.497000	0.06641	-0.282000	0.10007	CAA	ZNF614	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1	G	NM_025040		52521309	-1	no_errors	ENST00000270649	ensembl	human	known	70_37	missense	SNP	0.018	T	T	52521309	G	T	52521309	3	4	148	1	0	0	0	0	1	0	0	0	18069	1386	48	4	1575	4	ZNF614	19	52521309	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	2156696	52521309	6607674	58	24486										
ZBTB45	84878	genome.wustl.edu	37	chr19	59027764	59027764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	tcccccgccctggctcacccGagtggatgaacatgtgcttg	11	15	1	1			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chr19:59027764G>A	ENST00000594051.1	-	2	1757	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	ZBTB45_ENST00000600990.1_Missense_Mutation_p.S426L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.S426L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGGCTCACCCGAGTGGATGAA	0.572																																					NSCLC(164;1383 2017 5233 27540 46677)												0													63	61	62					19																	59027764		2203	4300	6503	SO:0001583	missense	84878			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1277C>T	19.37:g.59027764G>A	ENSP00000469089:p.Ser426Leu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S426L	ENST00000594051.1	37	c.1277	CCDS12984.1	19	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573463	0.65765	.	.	ENSG00000119574	ENST00000354590	T	0.07800	3.16	3.22	3.22	0.36961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.14227	0.0344	L	0.46819	1.47	0.39214	D	0.963378	D	0.61080	0.989	P	0.52386	0.697	T	0.03354	-1.1045	10	0.72032	D	0.01	.	12.7104	0.57086	0.0:0.0:1.0:0.0	.	426	Q96K62	ZBT45_HUMAN	L	426	ENSP00000346603:S426L	ENSP00000346603:S426L	S	-	2	0	ZBTB45	63719576	1.000000	0.71417	0.980000	0.43619	0.895000	0.52256	7.317000	0.79018	2.131000	0.65755	0.467000	0.42956	TCG	ZBTB45	-	pfscan_Znf_C2H2		0.572	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	HGNC	protein_coding	OTTHUMT00000467067.1	G	NM_032792		59027764	-1	no_errors	ENST00000354590	ensembl	human	known	70_37	missense	SNP	0.994	A	A	59027764	G	A	59027764	3	1	148	1	0	0	0	0	1	0	0	0	17576	1059	37	1	266	1	ZBTB45	19	59027764	Missense_Mutation	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09	6506455	59027764	101219	59	24487										
GAB3	139716	genome.wustl.edu	37	chrX	153944425	153944425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.283333333333333	17	9.16973340042797e-06	3.28327283726558	4.89272030651341	2.98150143678161	0.00670954845158065	0.0315835529271859	12	gtagtcttgacaatgaacacGaaattattctgaaattcctt	6	7	2	3			TCGA-IR-A3LB-01A-11D-A243-09	TCGA-IR-A3LB-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a67f3a7-427a-418d-b0bc-a6cdef6a5369	44a3f604-288d-419f-b3fe-cf02924d7cbe	g.chrX:153944425G>A	ENST00000369575.3	-	2	283	c.252C>T	c.(250-252)ttC>ttT	p.F84F	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.F84F	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAATGAACACGAAATTATTCT	0.512																																																	0													167	147	154					X																	153944425		2203	4300	6503	SO:0001819	synonymous_variant	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.252C>T	X.37:g.153944425G>A			A6NHF8|E9PB44	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F84	ENST00000369575.3	37	c.252	CCDS14760.1	X																																																																																			GAB3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.512	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	G	NM_001081573		153944425	-1	no_errors	ENST00000424127	ensembl	human	known	70_37	silent	SNP	0.403	A	A	153944425	G	A	153944425	2	1	148	1	0	0	0	0	0	0	0	1	6168	1049	37	1		1	GAB3	23	153944425	Silent	SNP	G	TCGA-IR-A3LB-01A-11D-A243-09		153944425	1326135	60	24488										
EIF4G3	8672	genome.wustl.edu	37	chr1	21139650	21139650	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gccttcagaaatgttacttaCctataatagctgctttacaa	5	9	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:21139650C>G	ENST00000264211.8	-	29	4624		c.e29+1		EIF4G3_ENST00000537738.1_Splice_Site|EIF4G3_ENST00000536266.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000374937.3_Splice_Site|EIF4G3_ENST00000374935.3_Splice_Site	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATGTTACTTACCTATAATAGC	0.343																																																	0													51	50	50					1																	21139650		2203	4300	6503	SO:0001630	splice_region_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4429+1G>C	1.37:g.21139650C>G			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	-	e29+1	ENST00000264211.8	37	c.4447+1	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018300	0.93404	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF4G3	21012237	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.461000	0.80834	2.810000	0.96702	0.585000	0.79938	.	EIF4G3	-	-		0.343	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760	Intron	21139650	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	21139650	C	G	21139650	5	3	149	1	0	0	0	0	0	0	1	0	5050	521	18	4	339	4	EIF4G3	1	21139650	Splice_Site	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09		21139650	228110971	1	24489										
BCAR3	8412	genome.wustl.edu	37	chr1	94140433	94140433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	atggatgaggccagggggaaCtggtgattcaccggcatgtt	16	7	1	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:94140433C>A	ENST00000370244.1	-	4	342	c.54G>T	c.(52-54)caG>caT	p.Q18H	BCAR3_ENST00000370243.1_Missense_Mutation_p.Q18H|BCAR3_ENST00000260502.6_Missense_Mutation_p.Q18H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	18					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCAGGGGGAACTGGTGATTCA	0.498																																																	0													64	65	65					1																	94140433		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.54G>T	1.37:g.94140433C>A	ENSP00000359264:p.Gln18His		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.Q18H	ENST00000370244.1	37	c.54	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694055	0.68386	.	.	ENSG00000137936	ENST00000260502;ENST00000370244;ENST00000370243	T;T;T	0.22539	1.95;1.95;1.95	5.69	4.78	0.61160	.	0.088894	0.48767	D	0.000171	T	0.15046	0.0363	L	0.34521	1.04	0.80722	D	1	P	0.47409	0.895	P	0.51487	0.671	T	0.01639	-1.1306	10	0.72032	D	0.01	0.4466	11.6477	0.51271	0.0:0.8582:0.0:0.1418	.	18	O75815	BCAR3_HUMAN	H	18	ENSP00000260502:Q18H;ENSP00000359264:Q18H;ENSP00000359263:Q18H	ENSP00000260502:Q18H	Q	-	3	2	BCAR3	93913021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.608000	0.46308	1.425000	0.47237	0.555000	0.69702	CAG	BCAR3	-	NULL		0.498	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	C			94140433	-1	no_errors	ENST00000260502	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94140433	C	A	94140433	3	1	149	1	0	0	0	0	1	0	0	0	1350	564	20	4	2467	4	BCAR3	1	94140433	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	73000783	94140433	155110188	2	24490										
SLC16A4	9122	genome.wustl.edu	37	chr1	110919773	110919773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gaaataatctgactgaccgtCtcaaggatacctggaacaat	8	9	2	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:110919773C>T	ENST00000369779.4	-	7	1290	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	SLC16A4_ENST00000541986.1_Silent_p.E285E|SLC16A4_ENST00000369781.4_Silent_p.E179E|SLC16A4_ENST00000472422.2_Silent_p.E299E|SLC16A4_ENST00000437429.2_Silent_p.E237E|SLC16A4_ENST00000497687.1_5'Flank	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	347					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GACTGACCGTCTCAAGGATAC	0.383																																																	0													163	154	157					1																	110919773		2203	4300	6503	SO:0001819	synonymous_variant	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1041G>A	1.37:g.110919773C>T			A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E347	ENST00000369779.4	37	c.1041	CCDS823.1	1																																																																																			SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.383	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	C	NM_004696		110919773	-1	no_errors	ENST00000369779	ensembl	human	known	70_37	silent	SNP	0.999	T	T	110919773	C	T	110919773	2	4	149	1	0	0	0	0	0	0	0	1	14440	912	32	1		1	SLC16A4	1	110919773	Silent	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	16779340	110919773	138330848	3	24491										
SPAG17	200162	genome.wustl.edu	37	chr1	118609416	118609416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tgttccaatattcacaatgcAaacgttgtctattcattgga	6	8	3	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:118609416A>G	ENST00000336338.5	-	18	2557	c.2492T>C	c.(2491-2493)tTg>tCg	p.L831S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	831						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACAATGCAAACGTTGTCT	0.358																																																	0													133	121	125					1																	118609416		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2492T>C	1.37:g.118609416A>G	ENSP00000337804:p.Leu831Ser		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.L831S	ENST00000336338.5	37	c.2492	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	A	6.519	0.463900	0.12402	.	.	ENSG00000155761	ENST00000336338	T	0.27402	1.67	5.21	-1.4	0.08968	.	0.707104	0.14081	N	0.342704	T	0.13500	0.0327	L	0.47190	1.495	0.09310	N	1	P	0.46142	0.873	B	0.42282	0.382	T	0.16364	-1.0405	10	0.48119	T	0.1	.	13.4364	0.61086	0.2768:0.0:0.0:0.7232	.	831	Q6Q759	SPG17_HUMAN	S	831	ENSP00000337804:L831S	ENSP00000337804:L831S	L	-	2	0	SPAG17	118410939	0.422000	0.25473	0.624000	0.29186	0.124000	0.20399	0.437000	0.21543	-0.175000	0.10725	-0.347000	0.07816	TTG	SPAG17	-	NULL		0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	A	NM_206996		118609416	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.029	G	G	118609416	A	G	118609416	3	3	149	1	0	0	0	0	1	0	0	0	15009	131	5	5	4303	5	SPAG17	1	118609416	Missense_Mutation	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	7689643	118609416	130641205	4	24492										
FLG	2312	genome.wustl.edu	37	chr1	152282256	152282256	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ctgtctccgactacagatgaAtcttgtctgcgcccagtgcc	9	14	3	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:152282256A>G	ENST00000368799.1	-	3	5141	c.5106T>C	c.(5104-5106)gaT>gaC	p.D1702D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1702	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTACAGATGAATCTTGTCTGC	0.572									Ichthyosis																																								0													251	254	253					1																	152282256		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5106T>C	1.37:g.152282256A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D1702	ENST00000368799.1	37	c.5106	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	A	NM_002016		152282256	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	silent	SNP	0.000	G	G	152282256	A	G	152282256	2	3	149	1	0	0	0	0	0	0	0	1	5940	98	4	5		5	FLG	1	152282256	Silent	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	33672840	152282256	96968365	5	24493										
OR6Y1	391112	genome.wustl.edu	37	chr1	158517747	158517747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	cactgtggatagctaagatgAtaagaagattctccagcagt	10	7	1	4			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:158517747A>G	ENST00000302617.3	-	1	148	c.149T>C	c.(148-150)aTc>aCc	p.I50T		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I50N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCTAAGATGATAAGAAGATT	0.478																																																	1	Substitution - Missense(1)	lung(1)											53	51	52					1																	158517747		2202	4300	6502	SO:0001583	missense	391112			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.149T>C	1.37:g.158517747A>G	ENSP00000304807:p.Ile50Thr		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I50T	ENST00000302617.3	37	c.149	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896850	0.52121	.	.	ENSG00000197532	ENST00000302617	T	0.00531	6.76	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000646	T	0.01029	0.0034	M	0.89534	3.04	0.20307	N	0.999918	D	0.71674	0.998	D	0.62955	0.909	T	0.26780	-1.0093	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	50	Q8NGX8	OR6Y1_HUMAN	T	50	ENSP00000304807:I50T	ENSP00000304807:I50T	I	-	2	0	OR6Y1	156784371	0.831000	0.29352	0.984000	0.44739	0.725000	0.41563	3.024000	0.49674	2.176000	0.68965	0.460000	0.39030	ATC	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	A	NM_001005189		158517747	-1	no_errors	ENST00000302617	ensembl	human	known	70_37	missense	SNP	0.301	G	G	158517747	A	G	158517747	3	3	149	1	0	0	0	0	1	0	0	0	11237	333	12	5	830	5	OR6Y1	1	158517747	Missense_Mutation	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	6235491	158517747	90732874	6	24494										
TPR	7175	genome.wustl.edu	37	chr1	186303601	186303601	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	catagctgcagctgtcacttTacttggagtagacacaacag	9	10	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr1:186303601T>G	ENST00000367478.4	-	36	5334	c.5038A>C	c.(5038-5040)Aaa>Caa	p.K1680Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1680					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTGTCACTTTACTTGGAGTA	0.453			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													154	159	158					1																	186303601		1964	4148	6112	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5038A>C	1.37:g.186303601T>G	ENSP00000356448:p.Lys1680Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K1680Q	ENST00000367478.4	37	c.5038	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173695	0.78452	.	.	ENSG00000047410	ENST00000367478	T	0.25912	1.77	5.29	5.29	0.74685	.	0.045148	0.85682	D	0.000000	T	0.44180	0.1281	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.34153	-0.9840	10	0.59425	D	0.04	.	15.5195	0.75854	0.0:0.0:0.0:1.0	.	1680	P12270	TPR_HUMAN	Q	1680	ENSP00000356448:K1680Q	ENSP00000356448:K1680Q	K	-	1	0	TPR	184570224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.122000	0.65172	0.383000	0.25322	AAA	TPR	-	NULL		0.453	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	T	NM_003292		186303601	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	G	G	186303601	T	G	186303601	3	3	149	1	0	0	0	0	1	0	0	0	16447	1763	61	5	2117	5	TPR	1	186303601	Missense_Mutation	SNP	T	TCGA-IR-A3LC-01A-11D-A20U-09	27785854	186303601	62947020	7	24495										
NCK1	4690	genome.wustl.edu	37	chr3	136664512	136664512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tgacccaggggaacgtctctAtgacctcaacatgcccgctt	9	14	2	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr3:136664512A>G	ENST00000481752.1	+	3	478	c.314A>G	c.(313-315)tAt>tGt	p.Y105C	NCK1_ENST00000469404.1_Missense_Mutation_p.Y41C|NCK1_ENST00000288986.2_Missense_Mutation_p.Y105C			P16333	NCK1_HUMAN	NCK adaptor protein 1	105					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACGTCTCTATGACCTCAAC	0.413																																																	0													125	126	126					3																	136664512		2203	4300	6503	SO:0001583	missense	4690			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.314A>G	3.37:g.136664512A>G	ENSP00000417273:p.Tyr105Cys		B7Z751|D3DNE3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.Y105C	ENST00000481752.1	37	c.314	CCDS3092.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.41|19.41	3.821736|3.821736	0.71028|0.71028	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000496489|ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	.|T;T;T;T;T;T;T	.|0.69306	.|-0.32;-0.32;1.39;0.78;2.29;-0.39;2.29	6.16|6.16	6.16|6.16	0.99307|0.99307	.|Src homology-3 domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76593|0.76593	0.4009|0.4009	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.62365	.|0.975;0.991	.|P;P	.|0.57776	.|0.67;0.827	T|T	0.76242|0.76242	-0.3031|-0.3031	5|10	.|0.40728	.|T	.|0.16	-11.1531|-11.1531	14.7581|14.7581	0.69583|0.69583	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|41;105	.|B7Z751;P16333	.|.;NCK1_HUMAN	V|C	93|105;105;105;105;105;41;41	.|ENSP00000288986:Y105C;ENSP00000417273:Y105C;ENSP00000419302:Y105C;ENSP00000419677:Y105C;ENSP00000417729:Y105C;ENSP00000419631:Y41C;ENSP00000418060:Y41C	.|ENSP00000288986:Y105C	M|Y	+|+	1|2	0|0	NCK1|NCK1	138147202|138147202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.859000|8.859000	0.92264|0.92264	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	ATG|TAT	NCK1	-	superfamily_SH3_domain,pirsf_Cytoplasmic_NCK		0.413	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	A	NM_006153		136664512	1	no_errors	ENST00000288986	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136664512	A	G	136664512	3	3	149	1	0	0	0	0	1	0	0	0	10243	449	16	5	320	5	NCK1	3	136664512	Missense_Mutation	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09		136664512	61357918	8	24496										
PLS1	5357	genome.wustl.edu	37	chr3	142396905	142396905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	acttatctgaaccagatacaAttgatgaaagagccatcaat	6	8	2	5			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr3:142396905A>C	ENST00000337777.3	+	6	742	c.529A>C	c.(529-531)Att>Ctt	p.I177L	PLS1_ENST00000497002.1_Missense_Mutation_p.I177L|PLS1_ENST00000457734.2_Missense_Mutation_p.I177L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	177	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACCAGATACAATTGATGAAAG	0.289																																																	0													113	111	111					3																	142396905		2203	4299	6502	SO:0001583	missense	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.529A>C	3.37:g.142396905A>C	ENSP00000336831:p.Ile177Leu		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.I177L	ENST00000337777.3	37	c.529	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165672	0.78339	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.97	4.97	0.65823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	L	0.52573	1.65	0.80722	D	1	B	0.23990	0.095	B	0.36289	0.221	D	0.94247	0.7490	10	0.87932	D	0	-18.9795	14.6515	0.68800	1.0:0.0:0.0:0.0	.	177	Q14651	PLSI_HUMAN	L	177;98;177;177	ENSP00000387890:I177L;ENSP00000417481:I98L;ENSP00000336831:I177L;ENSP00000418700:I177L	ENSP00000336831:I177L	I	+	1	0	PLS1	143879595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.858000	0.92256	1.864000	0.54056	0.533000	0.62120	ATT	PLS1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.289	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	A	NM_002670		142396905	1	no_errors	ENST00000337777	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142396905	A	C	142396905	3	2	149	1	0	0	0	0	1	0	0	0	12131	101	4	5	547	5	PLS1	3	142396905	Missense_Mutation	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	5732393	142396905	55625525	9	24497										
PCDHB13	56123	genome.wustl.edu	37	chr5	140595330	140595330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ccggcgctgagcagcgaggcGctggtgcgcgtggtggtgct	20	11	0	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:140595330G>A	ENST00000341948.4	+	1	1822	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCGAGGCGCTGGTGCGCG	0.701																																																	0													38	43	41					5																	140595330		2203	4298	6501	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1635G>A	5.37:g.140595330G>A			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A545	ENST00000341948.4	37	c.1635	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	G	NM_018933		140595330	1	no_errors	ENST00000341948	ensembl	human	known	70_37	silent	SNP	0.181	A	A	140595330	G	A	140595330	2	1	149	1	0	0	0	0	0	0	0	1	11562	1074	38	2		2	PCDHB13	5	140595330	Silent	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		140595330	40319930	10	24498										
ADRB2	154	genome.wustl.edu	37	chr5	148206606	148206608	+	In_Frame_Del	DEL	TCA	TCA	-													0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gcagacggtcaccaactactTcatcacttcactggcctgtg							TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:148206606_148206608delTCA	ENST00000305988.4	+	1	451_453	c.212_214delTCA	c.(211-216)ttcatc>ttc	p.I72del		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	72					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	ACCAACTACTTCATCACTTCACT	0.527																																																	0																																										SO:0001651	inframe_deletion	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.212_214delTCA	5.37:g.148206609_148206611delTCA	ENSP00000305372:p.Ile72del		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	In_Frame_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.I72in_frame_del	ENST00000305988.4	37	c.212_214	CCDS4292.1	5																																																																																			ADRB2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	TCA	NM_000024		148206608	1	no_errors	ENST00000305988	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	148206608	TCA	-	148206606	7	5	149	1	0	1	0	1	0	0	0	0	341	1783	62	0	214	0	ADRB2	5	148206606	In_Frame_Del	DEL	TCA	TCGA-IR-A3LC-01A-11D-A20U-09	7611276	148206606	32708654	11	24499										
RNF145	153830	genome.wustl.edu	37	chr5	158585861	158585861	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tcagtaccttcctgaaacatGacgttttgctcagctccagc	7	13	2	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:158585861G>A	ENST00000424310.2	-	11	2168	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	RNF145_ENST00000274542.2_Silent_p.V631V|RNF145_ENST00000521606.2_Silent_p.V620V|RNF145_ENST00000520638.1_Silent_p.V617V|RNF145_ENST00000518802.1_Silent_p.V633V|RNF145_ENST00000519865.1_Silent_p.V603V|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	603						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGAAACATGACGTTTTGCT	0.532																																																	0													83	77	79					5																	158585861		2203	4300	6503	SO:0001819	synonymous_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1809C>T	5.37:g.158585861G>A			B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.V631	ENST00000424310.2	37	c.1893	CCDS56390.1	5																																																																																			RNF145	-	NULL		0.532	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	G	NM_144726		158585861	-1	no_errors	ENST00000274542	ensembl	human	known	70_37	silent	SNP	0.000	A	A	158585861	G	A	158585861	2	1	149	1	0	0	0	0	0	0	0	1	13477	1277	45	1		1	RNF145	5	158585861	Silent	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	10379255	158585861	22329399	12	24500										
STC2	8614	genome.wustl.edu	37	chr5	172755130	172755130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gttggtggcgtcggtcccccGcgccgggtcaaaggtggcca	17	13	1	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr5:172755130G>A	ENST00000265087.4	-	1	1376	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	23					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCGGTCCCCCGCGCCGGGTCA	0.632																																																	0													96	101	99					5																	172755130		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.67C>T	5.37:g.172755130G>A	ENSP00000265087:p.Arg23Trp			Missense_Mutation	SNP	pfam_Stanniocalcin	p.R23W	ENST00000265087.4	37	c.67	CCDS4388.1	5	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084993	0.36758	.	.	ENSG00000113739	ENST00000265087	.	.	.	4.91	4.02	0.46733	.	1.015990	0.07858	N	0.965740	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	1	D	0.61697	0.99	P	0.47075	0.536	T	0.08452	-1.0721	9	0.38643	T	0.18	-4.5364	7.2968	0.26397	0.0858:0.0:0.7437:0.1705	.	23	O76061	STC2_HUMAN	W	23	.	ENSP00000265087:R23W	R	-	1	2	STC2	172687736	0.417000	0.25432	0.075000	0.20258	0.233000	0.25261	1.994000	0.40757	1.273000	0.44346	0.655000	0.94253	CGG	STC2	-	pfam_Stanniocalcin		0.632	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	HGNC	protein_coding	OTTHUMT00000252965.1	G	NM_003714		172755130	-1	no_errors	ENST00000265087	ensembl	human	known	70_37	missense	SNP	0.191	A	A	172755130	G	A	172755130	3	1	149	1	0	0	0	0	1	0	0	0	15306	1086	38	2	857	2	STC2	5	172755130	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	14169269	172755130	8160130	13	24501										
PECI	10455	genome.wustl.edu	37	chr6	4116174	4116174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	cattcatctgatagccatctTccctgaaggacattgcattc	6	12	3	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:4116174T>C	ENST00000380118.3	-	10	1155	c.1119A>G	c.(1117-1119)ggA>ggG	p.G373G	ECI2_ENST00000361538.2_Silent_p.G343G|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Silent_p.G206G|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Silent_p.G343G|ECI2_ENST00000465828.1_Silent_p.G343G			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	373					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATAGCCATCTTCCCTGAAGGA	0.403																																																	0													279	227	245					6																	4116174		2203	4300	6503	SO:0001819	synonymous_variant	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.1119A>G	6.37:g.4116174T>C			Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.G373	ENST00000380118.3	37	c.1119	CCDS43420.2	6																																																																																			ECI2	-	NULL		0.403	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	T	NM_006117		4116174	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	silent	SNP	0.001	C	C	4116174	T	C	4116174	2	2	149	1	0	0	0	0	0	0	0	1	11740	1770	62	5		5	PECI	6	4116174	Silent	SNP	T	TCGA-IR-A3LC-01A-11D-A20U-09		4116174	166998893	14	24502										
DST	667	genome.wustl.edu	37	chr6	56484707	56484707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	atgtcttgttcagcctttctAttggcagctgttagttcatc	8	9	4	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:56484707A>G	ENST00000370765.6	-	23	4232	c.4125T>C	c.(4123-4125)aaT>aaC	p.N1375N	DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTTTCTATTGGCAGCTG	0.443																																																	0													143	138	140					6																	56484707		2203	4300	6503	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4125T>C	6.37:g.56484707A>G			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.N1375	ENST00000370765.6	37	c.4125	CCDS4959.1	6																																																																																			DST	-	NULL		0.443	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	A	NM_001723		56484707	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	silent	SNP	0.454	G	G	56484707	A	G	56484707	2	3	149	1	0	0	0	0	0	0	0	1	4793	446	16	5		5	DST	6	56484707	Silent	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	52368533	56484707	114630360	15	24503										
AHI1	54806	genome.wustl.edu	37	chr6	135787166	135787166	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	atcctcttctaaatcagtctCttctcttccctcatttgcct	2	15	6	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:135787166C>G	ENST00000367800.4	-	5	751	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	AHI1_ENST00000457866.2_Missense_Mutation_p.E179Q|AHI1_ENST00000327035.6_Missense_Mutation_p.E179Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	179	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AAATCAGTCTCTTCTCTTCCC	0.393																																																	0													260	234	242					6																	135787166		1929	4119	6048	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.535G>C	6.37:g.135787166C>G	ENSP00000356774:p.Glu179Gln		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.E179Q	ENST00000367800.4	37	c.535	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	4.060	0.008827	0.07912	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57436	0.4;0.4;0.4;1.47;0.93	5.76	1.75	0.24633	.	1.020860	0.07814	N	0.958672	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.18871	0.023;0.01	T	0.33675	-0.9859	10	0.15499	T	0.54	-1.8649	5.3908	0.16244	0.0:0.2168:0.2527:0.5304	.	179;179	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	179;179;179;179;179;161	ENSP00000356774:E179Q;ENSP00000388650:E179Q;ENSP00000265602:E179Q;ENSP00000322478:E179Q;ENSP00000433063:E161Q	ENSP00000265602:E179Q	E	-	1	0	AHI1	135828859	0.000000	0.05858	0.019000	0.16419	0.015000	0.08874	-0.018000	0.12568	0.154000	0.19237	-0.300000	0.09419	GAG	AHI1	-	NULL		0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651		135787166	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	missense	SNP	0.000	G	G	135787166	C	G	135787166	3	3	149	1	0	0	0	0	1	0	0	0	413	922	32	1	3204	1	AHI1	6	135787166	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	79302459	135787166	35327901	16	24504										
MAP3K5	4217	genome.wustl.edu	37	chr6	136960681	136960681	+	Splice_Site	DEL	T	T	-													0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	acacaatgactaatacgtacTttttacaatgaagttctgta							TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:136960681delT	ENST00000359015.4	-	13	2294	c.1934delA	c.(1933-1935)aag>ag	p.K645fs	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	645					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAATACGTACTTTTTACAATG	0.318																																																	0													54	53	53					6																	136960681		2201	4290	6491	SO:0001630	splice_region_variant	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1934+1A>-	6.37:g.136960681delT			A6NIA0|B4DGB2|Q5THN3|Q99461	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K645fs	ENST00000359015.4	37	c.1934	CCDS5179.1	6																																																																																			MAP3K5	-	NULL		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	T		Frame_Shift_Del	136960681	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	136960681	T	-	136960681	8	5	149	1	0	1	0	1	0	0	1	0	9276	1623	56	0	2262	0	MAP3K5	6	136960681	Splice_Site	DEL	T	TCGA-IR-A3LC-01A-11D-A20U-09	1173515	136960681	34154386	17	24505										
MAP3K4	4216	genome.wustl.edu	37	chr6	161491789	161491789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gaacctgccttcctagttctCtgccgagtccttctgaatgt	8	13	2	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr6:161491789C>T	ENST00000392142.4	+	4	2005	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	MAP3K4_ENST00000366920.2_Silent_p.L619L|MAP3K4_ENST00000348824.7_Silent_p.L619L|MAP3K4_ENST00000366919.2_Silent_p.L619L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	619					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCCTAGTTCTCTGCCGAGTCC	0.483																																																	0													154	134	141					6																	161491789		2203	4300	6503	SO:0001819	synonymous_variant	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1857C>T	6.37:g.161491789C>T			A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L619	ENST00000392142.4	37	c.1857	CCDS34565.1	6																																																																																			MAP3K4	-	NULL		0.483	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161491789	1	no_errors	ENST00000392142	ensembl	human	known	70_37	silent	SNP	1.000	T	T	161491789	C	T	161491789	2	4	149	1	0	0	0	0	0	0	0	1	9275	900	32	1		1	MAP3K4	6	161491789	Silent	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	24531108	161491789	9623278	18	24506										
LIMK1	3984	genome.wustl.edu	37	chr7	73521443	73521443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	agtccctccgcgtagtctgcCggccacaccgcatcttccgg	10	18	2	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:73521443C>T	ENST00000336180.2	+	8	1036	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	LIMK1_ENST00000538333.3_Missense_Mutation_p.R295W|LIMK1_ENST00000418310.1_Missense_Mutation_p.R359W	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	329					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CGTAGTCTGCCGGCCACACCG	0.682																																																	0													37	36	36					7																	73521443		2203	4299	6502	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.985C>T	7.37:g.73521443C>T	ENSP00000336740:p.Arg329Trp		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R329W	ENST00000336180.2	37	c.985	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930295	0.73327	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.62498	0.02;0.02;0.02	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.260139	0.37857	N	0.001912	T	0.69672	0.3137	L	0.59436	1.845	0.49483	D	0.999791	D;D;D	0.76494	0.999;0.991;0.991	P;P;P	0.56434	0.798;0.462;0.462	T	0.72846	-0.4169	10	0.72032	D	0.01	-19.2374	12.0731	0.53628	0.0:0.8263:0.1737:0.0	.	224;295;329	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	W	359;329;329;295	ENSP00000409717:R359W;ENSP00000336740:R329W;ENSP00000444452:R295W	ENSP00000336740:R329W	R	+	1	2	LIMK1	73159379	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.235000	0.43044	2.439000	0.82584	0.650000	0.86243	CGG	LIMK1	-	superfamily_Kinase-like_dom		0.682	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	C	NM_002314		73521443	1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	0.998	T	T	73521443	C	T	73521443	3	4	149	1	0	0	0	0	1	0	0	0	8821	643	23	2	1015	2	LIMK1	7	73521443	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09		73521443	85617220	19	24507										
ZNF777	27153	genome.wustl.edu	37	chr7	149153010	149153010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ctttgggaggaagaacgcggGattggaacagagtttctcgg	16	6	1	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:149153010G>C	ENST00000247930.4	-	2	427	c.104C>G	c.(103-105)tCc>tGc	p.S35C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGAACGCGGGATTGGAACAG	0.542																																																	0													75	81	79					7																	149153010		1877	4107	5984	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.104C>G	7.37:g.149153010G>C	ENSP00000247930:p.Ser35Cys		Q8N2R2|Q8N659	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S35C	ENST00000247930.4	37	c.104	CCDS43675.1	7	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701979	0.48307	.	.	ENSG00000196453	ENST00000247930	T	0.06068	3.35	4.6	3.66	0.41972	.	0.159150	0.30151	N	0.010295	T	0.06508	0.0167	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.47162	0.54	T	0.23726	-1.0180	10	0.62326	D	0.03	-27.4078	10.4936	0.44764	0.0:0.0:0.8072:0.1928	.	35	Q9ULD5-2	.	C	35	ENSP00000247930:S35C	ENSP00000247930:S35C	S	-	2	0	ZNF777	148783943	0.147000	0.22687	0.335000	0.25508	0.974000	0.67602	1.502000	0.35704	2.275000	0.75901	0.563000	0.77884	TCC	ZNF777	-	NULL		0.542	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	G	NM_015694		149153010	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	missense	SNP	0.082	C	C	149153010	G	C	149153010	3	2	149	1	0	0	0	0	1	0	0	0	18180	1174	41	1	2411	1	ZNF777	7	149153010	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	75631567	149153010	9985653	20	24508										
ABCF2	10061	genome.wustl.edu	37	chr7	150915945	150915945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ttggcactgccatgaccaaaCctcgcaatgtagttctaaaa	7	11	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr7:150915945C>A	ENST00000287844.2	-	9	1141	c.1032G>T	c.(1030-1032)agG>agT	p.R344S	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Missense_Mutation_p.R344S	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	344					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGACCAAACCTCGCAATGT	0.493																																																	0													98	93	94					7																	150915945		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1032G>T	7.37:g.150915945C>A	ENSP00000287844:p.Arg344Ser		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R344S	ENST00000287844.2	37	c.1032	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439423	0.25900	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.92647	-3.04;-3.08	5.22	0.815	0.18763	.	0.109289	0.64402	D	0.000005	D	0.93638	0.7968	M	0.86864	2.845	0.53005	D	0.999968	P;P	0.50369	0.934;0.934	P;P	0.55965	0.788;0.788	D	0.89982	0.4101	10	0.21014	T	0.42	-0.2017	7.8517	0.29459	0.0:0.5403:0.0:0.4597	.	344;344	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	S	344	ENSP00000222388:R344S;ENSP00000287844:R344S	ENSP00000222388:R344S	R	-	3	2	ABCF2	150546878	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.436000	0.21526	0.221000	0.20879	0.558000	0.71614	AGG	ABCF2	-	NULL		0.493	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	C	NM_005692		150915945	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	missense	SNP	0.992	A	A	150915945	C	A	150915945	3	1	149	1	0	0	0	0	1	0	0	0	66	506	18	4	908	4	ABCF2	7	150915945	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	1762935	150915945	8222718	21	24509										
KHDRBS3	10656	genome.wustl.edu	37	chr8	136561003	136561003	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tttcctttttccaggaagaaGagttgaggaaaagtggagaa	12	4	0	4			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr8:136561003G>A	ENST00000355849.5	+	4	741	c.331G>A	c.(331-333)Gag>Aag	p.E111K	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	111	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCAGGAAGAAGAGTTGAGGAA	0.343																																																	0													52	44	47					8																	136561003		2203	4300	6503	SO:0001583	missense	10656			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.331G>A	8.37:g.136561003G>A	ENSP00000348108:p.Glu111Lys		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	smart_KH_dom	p.E111K	ENST00000355849.5	37	c.331	CCDS6374.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.175052	0.94807	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.16597	2.33;2.33;2.33	5.66	5.66	0.87406	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.55213	1.73	0.80722	D	1	D;P	0.59357	0.985;0.537	P;B	0.57846	0.828;0.444	T	0.01409	-1.1362	10	0.62326	D	0.03	-33.1287	18.7305	0.91733	0.0:0.0:1.0:0.0	.	111;111	O75525-2;O75525	.;KHDR3_HUMAN	K	111;83;84	ENSP00000348108:E111K;ENSP00000431022:E83K;ENSP00000430284:E84K	ENSP00000348108:E111K	E	+	1	0	KHDRBS3	136630185	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.855000	0.99526	2.676000	0.91093	0.555000	0.69702	GAG	KHDRBS3	-	smart_KH_dom		0.343	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	G			136561003	1	no_errors	ENST00000355849	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136561003	G	A	136561003	3	1	149	1	0	0	0	0	1	0	0	0	8168	943	33	1	345	1	KHDRBS3	8	136561003	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		136561003	9803019	22	24510										
IFNA4	3441	genome.wustl.edu	37	chr9	21187205	21187205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gttgctggtaaagttcagtgGaaaatttttctaggaggctc	12	5	2	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:21187205G>A	ENST00000421715.1	-	1	393	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	109					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGTTCAGTGGAAAATTTTTC	0.498																																					NSCLC(154;890 1986 23660 27800 51138)												0													22	25	24					9																	21187205		2183	4274	6457	SO:0001583	missense	3441				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.326C>T	9.37:g.21187205G>A	ENSP00000412897:p.Ser109Phe		P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.S109F	ENST00000421715.1	37	c.326	CCDS6498.1	9	.	.	.	.	.	.	.	.	.	.	N	1.568	-0.534772	0.04082	.	.	ENSG00000236637	ENST00000421715	T	0.05319	3.46	2.96	-5.93	0.02254	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.390610	0.04306	N	0.348143	T	0.02119	0.0066	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41734	-0.9492	10	0.32370	T	0.25	.	2.0033	0.03472	0.138:0.2314:0.1402:0.4904	.	109	P05014	IFNA4_HUMAN	F	109	ENSP00000412897:S109F	ENSP00000412897:S109F	S	-	2	0	IFNA4	21177205	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.390000	0.01057	-1.592000	0.01619	-2.711000	0.00134	TCC	IFNA4	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.498	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA4	HGNC	protein_coding	OTTHUMT00000051889.1	G	NM_021068		21187205	-1	no_errors	ENST00000421715	ensembl	human	known	70_37	missense	SNP	0.000	A	A	21187205	G	A	21187205	3	1	149	1	0	0	0	0	1	0	0	0	7559	1174	41	1	247	1	IFNA4	9	21187205	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		21187205	120026226	23	24511										
PMPCA	23203	genome.wustl.edu	37	chr9	139312506	139312506	+	Frame_Shift_Del	DEL	C	C	-													0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	caatgtcagcctgggcccgaCccccatccccgagctcacgc							TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:139312506delC	ENST00000371717.3	+	8	944	c.935delC	c.(934-936)accfs	p.T312fs	PMPCA_ENST00000399219.3_Frame_Shift_Del_p.T181fs|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	312					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CTGGGCCCGACCCCCATCCCC	0.557																																																	0													164	162	162					9																	139312506		2203	4300	6503	SO:0001589	frameshift_variant	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.935delC	9.37:g.139312506delC	ENSP00000360782:p.Thr312fs		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.I314fs	ENST00000371717.3	37	c.935	CCDS35180.1	9																																																																																			PMPCA	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.557	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	C	NM_015160		139312506	1	no_errors	ENST00000371717	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	139312506	C	-	139312506	7	5	149	1	0	1	0	1	0	0	0	0	12164	507	18	0	965	0	PMPCA	9	139312506	Frame_Shift_Del	DEL	C	TCGA-IR-A3LC-01A-11D-A20U-09	118125301	139312506	1900925	24	24512	137	2								
PMPCA	23203	genome.wustl.edu	37	chr9	139312511	139312511	+	Missense_Mutation	SNP	A	A	G													0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tcagcctgggcccgacccccAtccccgagctcacgcacatc							TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr9:139312511A>G	ENST00000371717.3	+	8	949	c.940A>G	c.(940-942)Atc>Gtc	p.I314V	PMPCA_ENST00000399219.3_Missense_Mutation_p.I183V|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	314					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CCCGACCCCCATCCCCGAGCT	0.562																																																	0													163	161	162					9																	139312511		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.940A>G	9.37:g.139312511A>G	ENSP00000360782:p.Ile314Val		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.I314V	ENST00000371717.3	37	c.940	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	A	14.15	2.449400	0.43531	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.11821	2.78;2.74;3.24	5.53	4.38	0.52667	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.089887	0.85682	D	0.000000	T	0.12603	0.0306	L	0.40543	1.245	0.58432	D	0.999995	B;B;B;B	0.30193	0.015;0.008;0.272;0.008	B;B;B;B	0.33568	0.044;0.027;0.166;0.027	T	0.09684	-1.0663	10	0.33141	T	0.24	.	9.467	0.38820	0.7891:0.0:0.0:0.2108	.	183;314;22;314	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	V	314;183;22	ENSP00000360782:I314V;ENSP00000416702:I183V;ENSP00000408393:I22V	ENSP00000360782:I314V	I	+	1	0	PMPCA	138432332	1.000000	0.71417	0.666000	0.29783	0.932000	0.56968	7.081000	0.76844	0.922000	0.37019	0.454000	0.30748	ATC	PMPCA	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	A	NM_015160		139312511	1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	0.993	G	G	139312511	A	G	139312511	3	3	149	1	0	0	0	0	1	0	0	0	12164	217	8	5	970	5	PMPCA	9	139312511	Missense_Mutation	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	5	139312511	1900920	25	24513	137	2								
DIP2C	22982	genome.wustl.edu	37	chr10	486841	486841	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gtaggcgtccatcgaggtctGcacgaccagggacctgcgtt	14	12	1	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:486841G>A	ENST00000280886.6	-	4	451	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	DIP2C_ENST00000381496.3_Nonsense_Mutation_p.Q15*|RP11-490E15.2_ENST00000425723.2_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	122						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCGAGGTCTGCACGACCAGG	0.607																																																	0													137	103	115					10																	486841		2203	4300	6503	SO:0001587	stop_gained	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.364C>T	10.37:g.486841G>A	ENSP00000280886:p.Gln122*		B4DPI5|Q5SS78	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.Q122*	ENST00000280886.6	37	c.364	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.550672	0.98352	.	.	ENSG00000151240	ENST00000280886;ENST00000381496;ENST00000423550	.	.	.	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-24.0961	16.2723	0.82628	0.0:0.0:1.0:0.0	.	.	.	.	X	122;15;178	.	ENSP00000280886:Q122X	Q	-	1	0	DIP2C	476841	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.100000	0.94213	2.197000	0.70478	0.563000	0.77884	CAG	DIP2C	-	NULL		0.607	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	G	NM_014974		486841	-1	no_errors	ENST00000280886	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	486841	G	A	486841	4	1	149	1	0	0	0	0	0	1	0	0	4539	1328	46	4	4442	4	DIP2C	10	486841	Nonsense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		486841	135047906	26	24514										
PTF1A	256297	genome.wustl.edu	37	chr10	23481515	23481515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	cctagacgcctttccttcttCgtacttcgacgaggacgact	8	14	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:23481515C>T	ENST00000376504.3	+	1	260	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	19					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TTTCCTTCTTCGTACTTCGAC	0.667																																																	0													68	63	65					10																	23481515		2203	4300	6503	SO:0001583	missense	256297			BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"Basic helix-loop-helix proteins"	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.56C>T	10.37:g.23481515C>T	ENSP00000365687:p.Ser19Leu		Q9HC25	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S19L	ENST00000376504.3	37	c.56	CCDS7143.1	10	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013156	0.35511	.	.	ENSG00000168267	ENST00000376504	D	0.94897	-3.55	2.96	2.96	0.34315	.	0.310729	0.30159	U	0.010276	D	0.87815	0.6272	N	0.14661	0.345	0.26682	N	0.971512	B	0.21452	0.056	B	0.12156	0.007	T	0.82651	-0.0352	10	0.87932	D	0	-1.896	12.5829	0.56399	0.0:1.0:0.0:0.0	.	19	Q7RTS3	PTF1A_HUMAN	L	19	ENSP00000365687:S19L	ENSP00000365687:S19L	S	+	2	0	PTF1A	23521521	0.067000	0.21026	0.023000	0.16930	0.188000	0.23474	2.639000	0.46570	1.490000	0.48466	0.313000	0.20887	TCG	PTF1A	-	NULL		0.667	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTF1A	HGNC	protein_coding	OTTHUMT00000047210.1	C	NM_178161		23481515	1	no_errors	ENST00000376504	ensembl	human	known	70_37	missense	SNP	0.795	T	T	23481515	C	T	23481515	3	4	149	1	0	0	0	0	1	0	0	0	12767	893	31	1	58	1	PTF1A	10	23481515	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	22994674	23481515	112053232	27	24515										
SIRT1	23411	genome.wustl.edu	37	chr10	69672357	69672357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	attgtgtcataggttaggtgGtgaatatgccaaactttgct	11	5	1	1	rs369274325		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:69672357G>A	ENST00000212015.6	+	8	1537	c.1484G>A	c.(1483-1485)gGt>gAt	p.G495D	SIRT1_ENST00000403579.1_Missense_Mutation_p.G192D|SIRT1_ENST00000432464.1_Missense_Mutation_p.G200D|SIRT1_ENST00000406900.1_Missense_Mutation_p.G192D	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	495	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGGTTAGGTGGTGAATATGCC	0.358																																																	0								G	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	101	100	100		599,1484	5.9	1	10		100	0,8600		0,0,4300	no	missense,missense	SIRT1	NM_001142498.1,NM_012238.4	94,94	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	200/453,495/748	69672357	1,13005	2203	4300	6503	SO:0001583	missense	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1484G>A	10.37:g.69672357G>A	ENSP00000212015:p.Gly495Asp		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.G495D	ENST00000212015.6	37	c.1484	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885334	0.51908	2.27E-4	0.0	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.92	5.92	0.95590	.	0.220796	0.45361	D	0.000365	T	0.12347	0.0300	N	0.24115	0.695	0.80722	D	1	B;B	0.28378	0.017;0.209	B;B	0.26202	0.016;0.067	T	0.05068	-1.0908	10	0.02654	T	1	-18.2209	19.9317	0.97122	0.0:0.0:1.0:0.0	.	192;495	B0QZ35;Q96EB6	.;SIRT1_HUMAN	D	495;200;192;192	ENSP00000212015:G495D;ENSP00000409208:G200D;ENSP00000384508:G192D;ENSP00000384063:G192D	ENSP00000212015:G495D	G	+	2	0	SIRT1	69342363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.306000	0.72810	2.810000	0.96702	0.650000	0.86243	GGT	SIRT1	-	pfscan_Ssirtuin_cat_dom		0.358	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	G			69672357	1	no_errors	ENST00000212015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69672357	G	A	69672357	3	1	149	1	0	0	0	0	1	0	0	0	14367	1261	44	4	1514	4	SIRT1	10	69672357	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	46190842	69672357	65862390	28	24516										
KNDC1	85442	genome.wustl.edu	37	chr10	135015315	135015315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tgcagcgccttctacgaggcCgactgcttcggggccgacgt	14	14	1	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr10:135015315C>T	ENST00000304613.3	+	17	3321	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	KNDC1_ENST00000368572.2_Silent_p.A1102A|KNDC1_ENST00000368571.2_Silent_p.A1035A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1100					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTACGAGGCCGACTGCTTCG	0.726																																																	0													6	7	7					10																	135015315		2131	4179	6310	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3300C>T	10.37:g.135015315C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A1102	ENST00000304613.3	37	c.3306	CCDS7674.1	10																																																																																			KNDC1	-	NULL		0.726	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	C	NM_152643		135015315	1	no_errors	ENST00000368572	ensembl	human	known	70_37	silent	SNP	0.904	T	T	135015315	C	T	135015315	2	4	149	1	0	0	0	0	0	0	0	1	8446	639	23	2		2	KNDC1	10	135015315	Silent	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	65342958	135015315	519432	29	24517										
MAML2	84441	genome.wustl.edu	37	chr11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-													0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gctgttgctgctgctgctgcTgttgctgctgctgctgctgc					rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr11:95825372_95825374delTGT	ENST00000524717.1	-	2	3105_3107	c.1821_1823delACA	c.(1819-1824)caacag>cag	p.607_608QQ>Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ctgctgctgctgttgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821_1823delACA	11.37:g.95825372_95825374delTGT	ENSP00000434552:p.Gln621del		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q611in_frame_del	ENST00000524717.1	37	c.1823_1821	CCDS44714.1	11																																																																																			MAML2	-	NULL		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	TGT			95825374	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	in_frame_del	DEL	0.003:0.003:0.003	-	-	95825374	TGT	-	95825372	7	5	149	1	0	1	0	1	0	0	0	0	9229	1580	55	0	1663	0	MAML2	11	95825372	In_Frame_Del	DEL	TGT	TCGA-IR-A3LC-01A-11D-A20U-09		95825372	39181144	30	24518										
AVPR1A	552	genome.wustl.edu	37	chr12	63544264	63544264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ggcacagccagtcggggccgCggaagcggtaggtgatgtcc	18	11	0	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr12:63544264C>T	ENST00000299178.2	-	1	458	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	118					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTCGGGGCCGCGGAAGCGGTA	0.627																																																	0													19	24	23					12																	63544264		2203	4299	6502	SO:0001583	missense	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.353G>A	12.37:g.63544264C>T	ENSP00000299178:p.Arg118His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R118H	ENST00000299178.2	37	c.353	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531709	0.27387	.	.	ENSG00000166148	ENST00000299178	T	0.37235	1.21	4.82	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.169429	0.53938	D	0.000048	T	0.22003	0.0530	N	0.21194	0.64	0.38142	D	0.938479	B	0.11235	0.004	B	0.13407	0.009	T	0.09122	-1.0689	9	.	.	.	-15.3492	8.8256	0.35052	0.0:0.8066:0.0:0.1934	.	118	P37288	V1AR_HUMAN	H	118	ENSP00000299178:R118H	.	R	-	2	0	AVPR1A	61830531	0.000000	0.05858	0.995000	0.50966	0.991000	0.79684	-0.139000	0.10358	1.022000	0.39626	0.455000	0.32223	CGC	AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt		0.627	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	C			63544264	-1	no_errors	ENST00000299178	ensembl	human	known	70_37	missense	SNP	0.996	T	T	63544264	C	T	63544264	3	4	149	1	0	0	0	0	1	0	0	0	1232	768	27	2	911	2	AVPR1A	12	63544264	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09		63544264	70307631	31	24519										
CCDC38	120935	genome.wustl.edu	37	chr12	96275265	96275265	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	caaatataatctggttaccaAatcaacgtccatttcatcat	3	10	4	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr12:96275265A>T	ENST00000344280.3	-	11	1545	c.988T>A	c.(988-990)Ttg>Atg	p.L330M	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	330										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGTTACCAAATCAACGTCC	0.279																																																	0													72	70	71					12																	96275265		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.988T>A	12.37:g.96275265A>T	ENSP00000345470:p.Leu330Met		Q8N835	Missense_Mutation	SNP	NULL	p.L330M	ENST00000344280.3	37	c.988	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	A	4.687	0.127775	0.08981	.	.	ENSG00000165972	ENST00000344280	T	0.42131	0.98	5.15	-0.121	0.13535	.	0.471606	0.21314	N	0.076596	T	0.28499	0.0705	L	0.55990	1.75	0.39462	D	0.967575	B	0.29988	0.264	B	0.23150	0.044	T	0.09400	-1.0676	10	0.48119	T	0.1	-6.3547	2.9236	0.05777	0.2844:0.0:0.3841:0.3315	.	330	Q502W7	CCD38_HUMAN	M	330	ENSP00000345470:L330M	ENSP00000345470:L330M	L	-	1	2	CCDC38	94799396	0.024000	0.19004	0.359000	0.25824	0.012000	0.07955	-0.124000	0.10595	0.308000	0.22923	-0.462000	0.05337	TTG	CCDC38	-	NULL		0.279	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	A	NM_182496		96275265	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.075	T	T	96275265	A	T	96275265	3	4	149	1	0	0	0	0	1	0	0	0	2815	11	1	5	727	5	CCDC38	12	96275265	Missense_Mutation	SNP	A	TCGA-IR-A3LC-01A-11D-A20U-09	32731001	96275265	37576630	32	24520										
STARD13	90627	genome.wustl.edu	37	chr13	33701650	33701650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gctggggccggccggggctgGtgcgacagctggaaactgtt	19	10	0	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr13:33701650G>T	ENST00000336934.5	-	6	1898	c.1782C>A	c.(1780-1782)caC>caA	p.H594Q	STARD13_ENST00000255486.4_Missense_Mutation_p.H586Q|STARD13_ENST00000399365.3_Missense_Mutation_p.H476Q	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	594					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCGGGGCTGGTGCGACAGCT	0.622																																																	0													21	21	21					13																	33701650		2199	4300	6499	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1782C>A	13.37:g.33701650G>T	ENSP00000338785:p.His594Gln		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.H594Q	ENST00000336934.5	37	c.1782	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636605	0.67130	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06849	3.25;3.25;3.26	5.15	3.13	0.36017	.	0.111385	0.64402	D	0.000007	T	0.09069	0.0224	M	0.75264	2.295	0.80722	D	1	B;B;B;B	0.33940	0.433;0.047;0.023;0.017	B;B;B;B	0.30716	0.119;0.099;0.022;0.02	T	0.10428	-1.0630	10	0.33940	T	0.23	.	4.1169	0.10086	0.5105:0.0:0.4895:0.0	.	586;559;594;586	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	Q	476;586;594;586	ENSP00000382300:H476Q;ENSP00000255486:H586Q;ENSP00000338785:H594Q	ENSP00000255486:H586Q	H	-	3	2	STARD13	32599650	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	1.861000	0.39438	1.180000	0.42898	0.655000	0.94253	CAC	STARD13	-	NULL		0.622	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	G	NM_001243466		33701650	-1	no_errors	ENST00000336934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33701650	G	T	33701650	3	4	149	1	0	0	0	0	1	0	0	0	15286	1252	44	4	1595	4	STARD13	13	33701650	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		33701650	81468228	33	24521										
ABCC4	10257	genome.wustl.edu	37	chr13	95735503	95735503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	attgcgatccaaggaatcacGgccacagccacagagaccac	9	14	1	1	rs11568691		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr13:95735503G>A	ENST00000376887.4	-	21	2691	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A	ABCC4_ENST00000412704.1_Silent_p.A812A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	859	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAGGAATCACGGCCACAGCCA	0.423																																																	0													91	84	86					13																	95735503		2203	4300	6503	SO:0001819	synonymous_variant	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2577C>T	13.37:g.95735503G>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.A859	ENST00000376887.4	37	c.2577	CCDS9474.1	13																																																																																			ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	G	NM_005845		95735503	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	silent	SNP	0.000	A	A	95735503	G	A	95735503	2	1	149	1	0	0	0	0	0	0	0	1	55	1103	39	2		2	ABCC4	13	95735503	Silent	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	62033853	95735503	19434375	34	24522										
FUT8	2530	genome.wustl.edu	37	chr14	66190982	66190983	+	Frame_Shift_Ins	INS	-	-	A													0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	cacgcagaatgcaagtggacINSaaaaaaagagtgtatttggc							TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr14:66190982_66190983insA	ENST00000360689.5	+	9	2927_2928	c.1200_1201insA	c.(1201-1203)aaafs	p.K401fs	FUT8_ENST00000557164.1_Frame_Shift_Ins_p.K238fs|FUT8_ENST00000394585.1_Frame_Shift_Ins_p.K401fs|FUT8_ENST00000394586.2_Frame_Shift_Ins_p.K401fs|FUT8_ENST00000358307.2_Frame_Shift_Ins_p.K272fs|FUT8_ENST00000417683.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	401	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCAAGTGGACAAAAAAAGAGT	0.421																																																	0																																										SO:0001589	frameshift_variant	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1207dupA	14.37:g.66190989_66190989dupA	ENSP00000353910:p.Lys401fs		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Frame_Shift_Ins	INS	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.R402fs	ENST00000360689.5	37	c.1200_1201	CCDS9775.1	14																																																																																			FUT8	-	pirsf_Alpha1_6FUT_euk		0.421	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	-	NM_004480		66190983	1	no_errors	ENST00000360689	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	66190983	-	A	66190982	7	5	149	1	0	1	1	0	0	0	0	0	6128	477	17	0	1325	0	FUT8	14	66190982	Frame_Shift_Ins	INS	-	TCGA-IR-A3LC-01A-11D-A20U-09		66190982	41158558	35	24523										
YLPM1	56252	genome.wustl.edu	37	chr14	75266333	75266333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ctgaccaaggccttggagggGtaatggttctcagtcagagg	15	8	2	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr14:75266333G>T	ENST00000325680.7	+	5	4457	c.4333G>T	c.(4333-4335)Gta>Tta	p.V1445L	YLPM1_ENST00000238571.3_Missense_Mutation_p.V1250L|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1250					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTTGGAGGGGTAATGGTTCT	0.458																																																	0													84	78	80					14																	75266333		1922	4138	6060	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4333G>T	14.37:g.75266333G>T	ENSP00000324463:p.Val1445Leu		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.V1445L	ENST00000325680.7	37	c.4333	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096830	0.76870	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000033	T	0.76241	0.3960	L	0.51422	1.61	0.45205	D	0.998216	D	0.67145	0.996	D	0.77557	0.99	T	0.72620	-0.4238	9	0.41790	T	0.15	-9.2772	20.4173	0.99028	0.0:0.0:1.0:0.0	.	1445	P49750-4	.	L	1445;1250;1158	.	ENSP00000238571:V1250L	V	+	1	0	YLPM1	74336086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.680000	0.68168	2.826000	0.97356	0.637000	0.83480	GTA	YLPM1	-	NULL		0.458	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	G	NM_019589		75266333	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75266333	G	T	75266333	3	4	149	1	0	0	0	0	1	0	0	0	17517	1261	44	4	4351	4	YLPM1	14	75266333	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	9075351	75266333	32083207	36	24524										
ISM2	145501	genome.wustl.edu	37	chr14	77951065	77951065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	aaggttgtgttggccaatccCggcagcttctgcagctccag	12	12	1	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr14:77951065C>T	ENST00000342219.4	-	2	395	c.339G>A	c.(337-339)ccG>ccA	p.P113P	ISM2_ENST00000412904.1_Silent_p.P113P|ISM2_ENST00000429906.1_Intron|ISM2_ENST00000493585.1_Silent_p.P113P|ISM2_ENST00000393684.3_Silent_p.P25P	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	113						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TGGCCAATCCCGGCAGCTTCT	0.622																																																	0													67	67	67					14																	77951065		2203	4300	6503	SO:0001819	synonymous_variant	145501			AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.339G>A	14.37:g.77951065C>T			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.P113	ENST00000342219.4	37	c.339	CCDS9864.1	14																																																																																			ISM2	-	NULL		0.622	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ISM2	HGNC	protein_coding	OTTHUMT00000351309.1	C	NM_182509		77951065	-1	no_errors	ENST00000342219	ensembl	human	known	70_37	silent	SNP	0.965	T	T	77951065	C	T	77951065	2	4	149	1	0	0	0	0	0	0	0	1	7881	639	23	2		2	ISM2	14	77951065	Silent	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	2684732	77951065	29398475	37	24525										
MAP1A	4130	genome.wustl.edu	37	chr15	43816925	43816925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	cattgatgaggggcttacagGctgtaccattcaactgttgc	11	9	1	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr15:43816925G>A	ENST00000300231.5	+	4	3704	c.3254G>A	c.(3253-3255)gGc>gAc	p.G1085D	MAP1A_ENST00000399453.1_Missense_Mutation_p.G1085D|MAP1A_ENST00000382031.1_Missense_Mutation_p.G1323D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1085					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCTTACAGGCTGTACCATT	0.542																																																	0													80	84	83					15																	43816925		1943	4134	6077	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3254G>A	15.37:g.43816925G>A	ENSP00000300231:p.Gly1085Asp		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.G1085D	ENST00000300231.5	37	c.3254	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	6.344	0.431502	0.12045	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01854	4.6;4.6;4.6	4.69	3.76	0.43208	.	0.000000	0.34700	N	0.003759	T	0.09949	0.0244	M	0.76574	2.34	0.43698	D	0.99615	D	0.71674	0.998	D	0.65323	0.934	T	0.19778	-1.0295	10	0.30854	T	0.27	-18.038	14.1971	0.65679	0.0:0.1499:0.8501:0.0	.	1085	P78559	MAP1A_HUMAN	D	1323;1085;1085	ENSP00000371462:G1323D;ENSP00000382380:G1085D;ENSP00000300231:G1085D	ENSP00000300231:G1085D	G	+	2	0	MAP1A	41604217	0.466000	0.25823	0.127000	0.21898	0.012000	0.07955	1.000000	0.29770	1.564000	0.49628	0.655000	0.94253	GGC	MAP1A	-	NULL		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43816925	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.832	A	A	43816925	G	A	43816925	3	1	149	1	0	0	0	0	1	0	0	0	9250	1203	42	4	3256	4	MAP1A	15	43816925	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		43816925	58714467	38	24526										
HERC1	8925	genome.wustl.edu	37	chr15	64015507	64015507	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ataatcaaaaggcttctgttCttcatttccagaaagtgcta	6	8	4	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr15:64015507C>T	ENST00000443617.2	-	19	3703	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1206					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTTCTGTTCTTCATTTCCA	0.373																																																	0													40	36	37					15																	64015507		1814	4077	5891	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3616G>A	15.37:g.64015507C>T	ENSP00000390158:p.Glu1206Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E1206K	ENST00000443617.2	37	c.3616	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854560	0.91355	.	.	ENSG00000103657	ENST00000443617	T	0.28069	1.63	5.34	5.34	0.76211	.	0.000000	0.85682	U	0.000000	T	0.51839	0.1698	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.52268	-0.8598	10	0.72032	D	0.01	.	19.0353	0.92974	0.0:1.0:0.0:0.0	.	1206	Q15751	HERC1_HUMAN	K	1206	ENSP00000390158:E1206K	ENSP00000390158:E1206K	E	-	1	0	HERC1	61802560	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.709000	0.84645	2.484000	0.83849	0.591000	0.81541	GAA	HERC1	-	NULL		0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		64015507	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64015507	C	T	64015507	3	4	149	1	0	0	0	0	1	0	0	0	7077	922	32	1	11209	1	HERC1	15	64015507	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	20198582	64015507	38515885	39	24527										
ADCY9	115	genome.wustl.edu	37	chr16	4164414	4164414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tccctgcttcattaagtcatCggctatgattcttggcatca	7	11	4	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr16:4164414C>T	ENST00000294016.3	-	2	1568	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	344					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTAAGTCATCGGCTATGATT	0.483																																																	0													164	155	158					16																	4164414		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1030G>A	16.37:g.4164414C>T	ENSP00000294016:p.Asp344Asn		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D344N	ENST00000294016.3	37	c.1030	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886468	0.72410	.	.	ENSG00000162104	ENST00000294016	D	0.84370	-1.84	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.45051	1.395	0.80722	D	1	D	0.64830	0.994	P	0.53313	0.723	D	0.86564	0.1843	10	0.44086	T	0.13	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	344	O60503	ADCY9_HUMAN	N	344	ENSP00000294016:D344N	ENSP00000294016:D344N	D	-	1	0	ADCY9	4104415	1.000000	0.71417	0.921000	0.36526	0.949000	0.60115	7.818000	0.86416	2.574000	0.86865	0.555000	0.69702	GAT	ADCY9	-	smart_A/G_cyclase		0.483	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4164414	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4164414	C	T	4164414	3	4	149	1	0	0	0	0	1	0	0	0	301	884	31	1	3071	1	ADCY9	16	4164414	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09		4164414	86190339	40	24528										
MYH13	8735	genome.wustl.edu	37	chr17	10212865	10212865	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ctggccctggaccgtgcgcaGatgcttctgggtctctgcca	13	14	2	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:10212865G>C	ENST00000418404.3	-	33	5102	c.4939C>G	c.(4939-4941)Ctg>Gtg	p.L1647V	MYH13_ENST00000252172.4_Missense_Mutation_p.L1647V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1647					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCGTGCGCAGATGCTTCTGG	0.637																																																	0													37	38	38					17																	10212865		2167	4285	6452	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4939C>G	17.37:g.10212865G>C	ENSP00000404570:p.Leu1647Val		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1647V	ENST00000418404.3	37	c.4939	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439501	0.25900	.	.	ENSG00000006788	ENST00000252172	T	0.75938	-0.98	4.21	2.2	0.27929	Myosin tail (1);	.	.	.	.	T	0.60444	0.2269	L	0.33710	1.025	0.32501	N	0.538914	B	0.11235	0.004	B	0.21360	0.034	T	0.57376	-0.7822	9	0.23891	T	0.37	.	8.0072	0.30332	0.2711:0.0:0.7289:0.0	.	1647	Q9UKX3	MYH13_HUMAN	V	1647	ENSP00000252172:L1647V	ENSP00000252172:L1647V	L	-	1	2	MYH13	10153590	0.996000	0.38824	0.992000	0.48379	0.813000	0.45954	1.794000	0.38774	0.513000	0.28278	0.563000	0.77884	CTG	MYH13	-	pfam_Myosin_tail		0.637	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10212865	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	0.998	C	C	10212865	G	C	10212865	3	2	149	1	0	0	0	0	1	0	0	0	10055	933	33	1	909	1	MYH13	17	10212865	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		10212865	70982345	41	24529										
SLC25A39	51629	genome.wustl.edu	37	chr17	42400685	42400685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gggccgctgagactgcaggcGaaccttcaccacgtccaggg	14	14	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:42400685G>A	ENST00000377095.5	-	3	231	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC25A39_ENST00000225308.8_Missense_Mutation_p.R38C|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R38C|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R38C	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	38					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GACTGCAGGCGAACCTTCACC	0.632																																																	0													48	46	47					17																	42400685		2203	4300	6503	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.112C>T	17.37:g.42400685G>A	ENSP00000366299:p.Arg38Cys		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R38C	ENST00000377095.5	37	c.112	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842664	0.51057	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	D;D;D	0.84442	-1.85;-1.85;-1.85	4.74	4.74	0.60224	Mitochondrial carrier domain (2);	0.054760	0.64402	N	0.000001	D	0.91781	0.7400	M	0.85859	2.78	0.80722	D	1	B;B;D;D;D	0.76494	0.037;0.083;0.999;0.978;0.998	B;B;D;P;D	0.69142	0.017;0.026;0.948;0.693;0.962	D	0.92296	0.5845	10	0.62326	D	0.03	-24.7046	11.677	0.51436	0.0:0.0:0.8229:0.1771	.	38;38;38;38;38	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	C	38	ENSP00000225308:R38C;ENSP00000366299:R38C;ENSP00000444540:R38C	ENSP00000225308:R38C	R	-	1	0	SLC25A39	39756211	1.000000	0.71417	0.936000	0.37596	0.270000	0.26580	2.588000	0.46137	2.468000	0.83385	0.655000	0.94253	CGC	SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.632	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	G	NM_016016		42400685	-1	no_errors	ENST00000377095	ensembl	human	known	70_37	missense	SNP	0.995	A	A	42400685	G	A	42400685	3	1	149	1	0	0	0	0	1	0	0	0	14533	1058	37	1	1007	1	SLC25A39	17	42400685	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	32187820	42400685	38794525	42	24530										
SP6	80320	genome.wustl.edu	37	chr17	45924676	45924676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ctgaggagctcagttggaggGagccacgctgccctcggcct	15	13	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:45924676G>A	ENST00000536300.1	-	2	1451	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	SP6_ENST00000342234.2_Missense_Mutation_p.P374S	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	374					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGTTGGAGGGAGCCACGCTG	0.731																																																	0													6	9	8					17																	45924676		2093	4129	6222	SO:0001583	missense	80320				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.1120C>T	17.37:g.45924676G>A	ENSP00000438209:p.Pro374Ser		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P374S	ENST00000536300.1	37	c.1120	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	G	1.024	-0.683890	0.03353	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.06608	3.28;3.28	4.5	0.188	0.15114	.	0.205941	0.24578	N	0.037325	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42050	-0.9474	10	0.31617	T	0.26	.	4.9097	0.13816	0.3592:0.1498:0.491:0.0	.	374	Q3SY56	SP6_HUMAN	S	374	ENSP00000340799:P374S;ENSP00000438209:P374S	ENSP00000340799:P374S	P	-	1	0	SP6	43279675	0.974000	0.33945	0.038000	0.18304	0.041000	0.13682	0.822000	0.27352	-0.085000	0.12573	0.462000	0.41574	CCC	SP6	-	NULL		0.731	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	G	NM_199262		45924676	-1	no_errors	ENST00000342234	ensembl	human	known	70_37	missense	SNP	0.049	A	A	45924676	G	A	45924676	3	1	149	1	0	0	0	0	1	0	0	0	14998	1174	41	1	14	1	SP6	17	45924676	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	3523991	45924676	35270534	43	24531										
CSHL1	1444	genome.wustl.edu	37	chr17	61987643	61987643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ggaaccgcacgggctccagcCgcgactcgatgagcagcagg	15	14	0	1	rs144051040		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr17:61987643C>T	ENST00000309894.5	-	4	349	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CSHL1_ENST00000259003.10_Missense_Mutation_p.R55Q|CSHL1_ENST00000450719.3_Missense_Mutation_p.R23Q|CSHL1_ENST00000561003.1_Missense_Mutation_p.R34Q|CSHL1_ENST00000438387.2_Missense_Mutation_p.R34Q|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.R23Q|CSHL1_ENST00000392824.4_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	117						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GGGCTCCAGCCGCGACTCGAT	0.597																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	51	49	50		68,350,101,281	3.1	1	17	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	23/129,117/223,34/140,94/200	61987643	2,13004	2203	4300	6503	SO:0001583	missense	1444			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.350G>A	17.37:g.61987643C>T	ENSP00000309524:p.Arg117Gln		D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R117Q	ENST00000309894.5	37	c.350	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	11.95	1.791642	0.31685	0.0	2.33E-4	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90324	-2.65;-2.65;-2.65	3.07	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.08118	0	0.80722	D	1	B;P;P;P	0.44986	0.334;0.847;0.694;0.645	B;B;B;B	0.33339	0.101;0.101;0.162;0.146	T	0.81897	-0.0722	10	0.87932	D	0	.	11.9356	0.52872	0.0:1.0:0.0:0.0	.	23;34;117;94	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	Q	117;34;112;23;112	ENSP00000309524:R117Q;ENSP00000402632:R34Q;ENSP00000316360:R23Q	ENSP00000259003:R112Q	R	-	2	0	GH1	59341375	1.000000	0.71417	0.997000	0.53966	0.005000	0.04900	4.931000	0.63469	1.730000	0.51580	0.305000	0.20034	CGG	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.597	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	C	NM_022579		61987643	-1	no_errors	ENST00000309894	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61987643	C	T	61987643	3	4	149	1	0	0	0	0	1	0	0	0	3947	652	23	2	326	2	CSHL1	17	61987643	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09	16062967	61987643	19207567	44	24532										
CELF5	60680	genome.wustl.edu	37	chr19	3290270	3290270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	ttatctaccacctcccccagGagtttggagacacggagctg	10	13	1	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr19:3290270G>T	ENST00000292672.2	+	11	1265	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	CELF5_ENST00000541430.2_Splice_Site_p.G371V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	410	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCTCCCCCAGGAGTTTGGAGA	0.552																																																	0													93	82	86					19																	3290270		2203	4300	6503	SO:0001587	stop_gained	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1228G>T	19.37:g.3290270G>T	ENSP00000292672:p.Glu410*		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E410*	ENST00000292672.2	37	c.1228	CCDS12106.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.391412|6.391412	0.97529|0.97529	.|.	.|.	ENSG00000161082|ENSG00000161082	ENST00000292672|ENST00000541430;ENST00000334293	.|T;T	.|0.50277	.|1.08;0.75	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70064	.|0.3181	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.994;0.998	.|T	.|0.76181	.|-0.3053	.|9	0.87932|0.87932	D|D	0|0	-18.2573|-18.2573	15.7848|15.7848	0.78294|0.78294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|282;371	.|B4DFI3;Q8N6W0-2	.|.;.	X|V	410|371;282	.|ENSP00000443498:G371V;ENSP00000335182:G282V	ENSP00000292672:E410X|ENSP00000335182:G282V	E|G	+|+	1|2	0|0	CELF5|CELF5	3241270|3241270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.782000|9.782000	0.99034|0.99034	2.130000|2.130000	0.65690|0.65690	0.542000|0.542000	0.68232|0.68232	GAG|GGA	CELF5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.552	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1	G	NM_021938		3290270	1	no_errors	ENST00000292672	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	3290270	G	T	3290270	4	4	149	1	0	0	0	0	0	1	0	0	3224	1188	41	3	1270	3	CELF5	19	3290270	Nonsense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		3290270	55838713	45	24533										
C20orf132	140699	genome.wustl.edu	37	chr20	35740792	35740792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	gggatctttggagtacacttCttggggcagcttccacttca	11	10	3	0			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr20:35740792C>G	ENST00000400441.3	-	21	2748	c.2749G>C	c.(2749-2751)Gaa>Caa	p.E917Q	MROH8_ENST00000217333.8_Missense_Mutation_p.E746Q|MROH8_ENST00000441008.2_Missense_Mutation_p.E903Q			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.E917*(1)									GAGTACACTTCTTGGGGCAGC	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											110	101	104					20																	35740792		1889	4117	6006	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2749G>C	20.37:g.35740792C>G	ENSP00000383291:p.Glu917Gln		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E917Q	ENST00000400441.3	37	c.2749		20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	7.875|7.875|7.875	0.728884|0.728884|0.728884	0.15507|0.15507|0.15507	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811|ENST00000417458	T;T;T|.|.	0.65178|.|.	4.01;4.3;-0.14|.|.	5.57|5.57|5.57	3.49|3.49|3.49	0.39957|0.39957|0.39957	.|.|.	0.618437|.|.	0.16759|.|.	N|.|.	0.200709|.|.	T|T|T	0.41719|0.41719|0.41719	0.1171|0.1171|0.1171	L|L|L	0.42245|0.42245|0.42245	1.32|1.32|1.32	0.24846|0.24846|0.24846	N|N|N	0.992434|0.992434|0.992434	B;B|.|.	0.21071|.|.	0.051;0.035|.|.	B;B|.|.	0.18561|.|.	0.022;0.019|.|.	T|T|T	0.25779|0.25779|0.25779	-1.0122|-1.0122|-1.0122	10|5|5	0.20519|.|.	T|.|.	0.43|.|.	0.0564|0.0564|0.0564	11.7616|11.7616|11.7616	0.51908|0.51908|0.51908	0.0:0.6566:0.3434:0.0|0.0:0.6566:0.3434:0.0|0.0:0.6566:0.3434:0.0	.|.|.	917;751|.|.	E7ETR9;Q9H579-2|.|.	.;.|.|.	Q|N|T	903;917;746|943|544	ENSP00000392144:E903Q;ENSP00000383291:E917Q;ENSP00000217333:E746Q|.|.	ENSP00000217333:E746Q|.|.	E|K|R	-|-|-	1|3|2	0|2|0	C20orf132|C20orf132|C20orf132	35174206|35174206|35174206	0.907000|0.907000|0.907000	0.30839|0.30839|0.30839	0.904000|0.904000|0.904000	0.35570|0.35570|0.35570	0.786000|0.786000|0.786000	0.44442|0.44442|0.44442	0.782000|0.782000|0.782000	0.26788|0.26788|0.26788	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GAA|AAG|AGA	C20orf132	-	superfamily_ARM-type_fold		0.418	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		C	NM_152503		35740792	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	0.868	G	G	35740792	C	G	35740792	3	3	149	1	0	0	0	0	1	0	0	0	2091	922	32	1	395	1	C20orf132	20	35740792	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09		35740792	27284728	46	24534										
POTED	317754	genome.wustl.edu	37	chr21	14982955	14982955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tggagccgaggtaccacatcCgtcgagaagatctggacaag	13	10	1	2			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chr21:14982955C>T	ENST00000299443.5	+	1	458	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	136						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GTACCACATCCGTCGAGAAGA	0.587																																																	0													40	55	52					21																	14982955		786	3138	3924	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.406C>T	21.37:g.14982955C>T	ENSP00000299443:p.Arg136Cys		C9JCF7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R136C	ENST00000299443.5	37	c.406	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360502	0.11296	.	.	ENSG00000166351	ENST00000299443	T	0.53423	0.62	1.29	0.215	0.15253	.	.	.	.	.	T	0.43831	0.1265	L	0.40543	1.245	0.09310	N	1	D	0.56521	0.976	P	0.52066	0.689	T	0.28332	-1.0047	9	0.52906	T	0.07	.	5.0343	0.14426	0.0:0.6154:0.3846:0.0	.	136	Q86YR6	POTED_HUMAN	C	136	ENSP00000299443:R136C	ENSP00000299443:R136C	R	+	1	0	POTED	13904826	0.014000	0.17966	0.002000	0.10522	0.009000	0.06853	0.182000	0.16900	0.063000	0.16370	0.184000	0.17185	CGT	POTED	-	NULL		0.587	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	C	NM_174981		14982955	1	no_errors	ENST00000299443	ensembl	human	known	70_37	missense	SNP	0.002	T	T	14982955	C	T	14982955	3	4	149	1	0	0	0	0	1	0	0	0	12287	652	23	2	408	2	POTED	21	14982955	Missense_Mutation	SNP	C	TCGA-IR-A3LC-01A-11D-A20U-09		14982955	33146940	47	24535										
FRMPD4	9758	genome.wustl.edu	37	chrX	12734823	12734823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	cagaaaacactgatgacgcgGaggacgaggacgaggtgagc	16	8	0	4			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrX:12734823G>C	ENST00000380682.1	+	15	2751	c.2245G>C	c.(2245-2247)Gag>Cag	p.E749Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	749					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGATGACGCGGAGGACGAGGA	0.562																																																	0													119	111	114					X																	12734823		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2245G>C	X.37:g.12734823G>C	ENSP00000370057:p.Glu749Gln		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E749Q	ENST00000380682.1	37	c.2245	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383506	0.61845	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.38887	1.11	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.72118	2.19	0.42653	D	0.993451	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.68447	-0.5406	10	0.62326	D	0.03	.	18.5929	0.91220	0.0:0.0:1.0:0.0	.	741;749	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Q	749;740;738	ENSP00000370057:E749Q	ENSP00000304583:E738Q	E	+	1	0	FRMPD4	12644744	1.000000	0.71417	0.867000	0.34043	0.062000	0.15995	9.241000	0.95402	2.334000	0.79466	0.600000	0.82982	GAG	FRMPD4	-	NULL		0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	G	XM_045712		12734823	1	no_errors	ENST00000380682	ensembl	human	known	70_37	missense	SNP	0.999	C	C	12734823	G	C	12734823	3	2	149	1	0	0	0	0	1	0	0	0	6077	1175	41	1	2303	1	FRMPD4	23	12734823	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09		12734823	142535737	48	24536										
APEX2	27301	genome.wustl.edu	37	chrX	55033705	55033705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	tgtgctggcggggcccttgcGcacacccctctgtgggggcc	16	15	1	0	rs374342631		TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrX:55033705G>A	ENST00000374987.3	+	6	1460	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	465					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGGCCCTTGCGCACACCCCTC	0.602								Other BER factors																																									0								G	HIS/ARG	0,3835		0,0,0,1632,571	35	28	30		1394	2.9	0	X		30	1,6727		0,0,1,2428,1871	no	missense	APEX2	NM_014481.2	29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging	465/519	55033705	1,10562	2203	4300	6503	SO:0001583	missense	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1394G>A	X.37:g.55033705G>A	ENSP00000364126:p.Arg465His		Q9Y5X7	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.R465H	ENST00000374987.3	37	c.1394	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	G	6.913	0.538009	0.13188	0.0	1.49E-4	ENSG00000169188	ENST00000374987	T	0.60672	0.17	4.67	2.9	0.33743	.	0.339412	0.34507	N	0.003919	T	0.38374	0.1038	N	0.14661	0.345	0.09310	N	1	P	0.50819	0.939	B	0.42522	0.39	T	0.21655	-1.0239	10	0.49607	T	0.09	-6.7797	9.2175	0.37355	0.1481:0.5602:0.2917:0.0	.	465	Q9UBZ4	APEX2_HUMAN	H	465	ENSP00000364126:R465H	ENSP00000364126:R465H	R	+	2	0	APEX2	55050430	0.016000	0.18221	0.000000	0.03702	0.136000	0.21042	1.224000	0.32539	0.484000	0.27630	-1.329000	0.01275	CGC	APEX2	-	NULL		0.602	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	G			55033705	1	no_errors	ENST00000374987	ensembl	human	known	70_37	missense	SNP	0.071	A	A	55033705	G	A	55033705	3	1	149	1	0	0	0	0	1	0	0	0	770	1087	38	2	1416	2	APEX2	23	55033705	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	42298882	55033705	100236855	49	24537										
BRWD3	254065	genome.wustl.edu	37	chrX	79942412	79942412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.163265306122449	8	0.0495393323372894	2.04223469660519	3.7015503875969	1.60936973373778	0.619269619269619	0.811745311745311	4	aaatggctccgagtcttcacGttcataaatgaggctcaata	8	9	4	1			TCGA-IR-A3LC-01A-11D-A20U-09	TCGA-IR-A3LC-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ae152f3-8825-4ebc-ba32-d491560a8bf4	c3d75701-b40d-4e8f-aa95-d71183218400	g.chrX:79942412G>T	ENST00000373275.4	-	35	4171	c.3955C>A	c.(3955-3957)Cgt>Agt	p.R1319S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1319	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTCTTCACGTTCATAAATG	0.383																																																	0													166	145	152					X																	79942412		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3955C>A	X.37:g.79942412G>T	ENSP00000362372:p.Arg1319Ser		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1319S	ENST00000373275.4	37	c.3955	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	6.951	0.545273	0.13312	.	.	ENSG00000165288	ENST00000373275	T	0.18810	2.19	4.53	4.53	0.55603	Bromodomain (4);	0.181713	0.46758	D	0.000263	T	0.13756	0.0333	N	0.26162	0.8	0.41941	D	0.990611	B	0.29341	0.242	B	0.19666	0.026	T	0.10590	-1.0623	9	.	.	.	-10.8165	13.1637	0.59558	0.0:0.0:0.8403:0.1597	.	1319	Q6RI45	BRWD3_HUMAN	S	1319	ENSP00000362372:R1319S	.	R	-	1	0	BRWD3	79829068	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.506000	0.60428	2.062000	0.61559	0.415000	0.27848	CGT	BRWD3	-	superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79942412	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	0.994	T	T	79942412	G	T	79942412	3	4	149	1	0	0	0	0	1	0	0	0	1529	1145	40	2	1481	2	BRWD3	23	79942412	Missense_Mutation	SNP	G	TCGA-IR-A3LC-01A-11D-A20U-09	24908707	79942412	75328148	50	24538										
CCNL2	81669	genome.wustl.edu	37	chr1	1322818	1322818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tgtggcttctgggggtacttGcagtccttggacttccggga	15	9	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:1322818G>A	ENST00000400809.3	-	11	1361	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.C230C	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	452					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGGGGTACTTGCAGTCCTTGG	0.622																																																	0													55	65	61					1																	1322818		2203	4296	6499	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1356C>T	1.37:g.1322818G>A			A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.C452	ENST00000400809.3	37	c.1356	CCDS30557.1	1																																																																																			CCNL2	-	pirsf_Cyclin_L		0.622	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	G	NM_030937		1322818	-1	no_errors	ENST00000400809	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1322818	G	A	1322818	2	1	150	1	0	0	0	0	0	0	0	1	2937	1311	46	4		4	CCNL2	1	1322818	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		1322818	247927803	1	24539										
KLF17	128209	genome.wustl.edu	37	chr1	44596347	44596347	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	catctcaagcaacaccagaaGactcatcggccgggaccctc	8	16	2	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:44596347G>A	ENST00000372299.3	+	3	1147	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	363					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AACACCAGAAGACTCATCGGC	0.527																																																	0													123	106	112					1																	44596347		2203	4300	6503	SO:0001819	synonymous_variant	128209			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.1089G>A	1.37:g.44596347G>A			Q86VQ7|Q8N805	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K363	ENST00000372299.3	37	c.1089	CCDS508.1	1																																																																																			KLF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	G	NM_173484		44596347	1	no_errors	ENST00000372299	ensembl	human	known	70_37	silent	SNP	0.687	A	A	44596347	G	A	44596347	2	1	150	1	0	0	0	0	0	0	0	1	8365	933	33	1		1	KLF17	1	44596347	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	43273529	44596347	204654274	2	24540										
CDC14A	8556	genome.wustl.edu	37	chr1	100908539	100908539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gacatttgatgtggatgaatAtgaacattatgaggtttgta	11	2	0	4			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:100908539A>G	ENST00000336454.3	+	7	861	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	CDC14A_ENST00000370124.3_Missense_Mutation_p.Y169C|CDC14A_ENST00000544534.1_Missense_Mutation_p.Y169C|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.Y169C|CDC14A_ENST00000542213.1_Missense_Mutation_p.Y111C|CDC14A_ENST00000370125.2_Missense_Mutation_p.Y169C	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	169	Linker.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GTGGATGAATATGAACATTAT	0.289																																																	0													108	112	111					1																	100908539		2203	4297	6500	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.506A>G	1.37:g.100908539A>G	ENSP00000336739:p.Tyr169Cys		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y169C	ENST00000336454.3	37	c.506	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521280	0.64747	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T;T	0.69435	1.44;1.44;-0.4;1.44;1.44;1.44;1.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.83275	0.989;0.996;0.985;0.993;0.954	D	0.86838	0.2015	10	0.87932	D	0	-14.73	12.9608	0.58458	1.0:0.0:0.0:0.0	.	111;169;169;169;169	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	C	111;170;169;169;169;169;169	ENSP00000442640:Y111C;ENSP00000388501:Y170C;ENSP00000359143:Y169C;ENSP00000354916:Y169C;ENSP00000359142:Y169C;ENSP00000336739:Y169C;ENSP00000442543:Y169C	ENSP00000336739:Y169C	Y	+	2	0	CDC14A	100681127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.112000	0.77086	2.113000	0.64589	0.477000	0.44152	TAT	CDC14A	-	NULL		0.289	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	A	NM_033312		100908539	1	no_errors	ENST00000361544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100908539	A	G	100908539	3	3	150	1	0	0	0	0	1	0	0	0	3061	449	16	5	532	5	CDC14A	1	100908539	Missense_Mutation	SNP	A	TCGA-IR-A3LF-01A-21D-A22X-09	56312192	100908539	148342082	3	24541										
ATP8B2	57198	genome.wustl.edu	37	chr1	154306643	154306643	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	attcagcggaaccctctactGgaaggaaaataagttccctc	8	11	2	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:154306643G>A	ENST00000368489.3	+	10	749	c.749G>A	c.(748-750)tGg>tAg	p.W250*	ATP8B2_ENST00000341822.2_Nonsense_Mutation_p.W236*|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Nonsense_Mutation_p.W217*	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	236					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCCTCTACTGGAAGGAAAAT	0.512																																																	0													217	226	223					1																	154306643		2203	4300	6503	SO:0001587	stop_gained	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.749G>A	1.37:g.154306643G>A	ENSP00000357475:p.Trp250*		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.W250*	ENST00000368489.3	37	c.749	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.210985	0.97380	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	.	.	.	5.3	5.3	0.74995	.	0.069961	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1511	0.48460	0.0841:0.0:0.9159:0.0	.	.	.	.	X	217;250;236	.	ENSP00000340448:W236X	W	+	2	0	ATP8B2	152573267	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.842000	0.86851	2.761000	0.94854	0.591000	0.81541	TGG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.512	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	G	NM_020452		154306643	1	no_errors	ENST00000368489	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	154306643	G	A	154306643	4	1	150	1	0	0	0	0	0	1	0	0	1196	1357	47	4	787	4	ATP8B2	1	154306643	Nonsense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	53398104	154306643	94943978	4	24542										
CHRNB2	1141	genome.wustl.edu	37	chr1	154544260	154544260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ccagcgtgtgcgtgctcaacGtgcaccaccgctcgcccacc	10	19	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:154544260G>A	ENST00000368476.3	+	5	1225	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	321					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGTGCTCAACGTGCACCACCG	0.642																																																	0													105	77	87					1																	154544260		2203	4300	6503	SO:0001583	missense	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.961G>A	1.37:g.154544260G>A	ENSP00000357461:p.Val321Met		Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V321M	ENST00000368476.3	37	c.961	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229585	0.79688	.	.	ENSG00000160716	ENST00000368476	D	0.87729	-2.29	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93135	0.7814	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94369	0.7594	10	0.72032	D	0.01	.	15.8078	0.78527	0.0:0.0:1.0:0.0	.	321	P17787	ACHB2_HUMAN	M	321	ENSP00000357461:V321M	ENSP00000357461:V321M	V	+	1	0	CHRNB2	152810884	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.412000	0.73303	2.024000	0.59613	0.313000	0.20887	GTG	CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.642	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	G	NM_000748		154544260	1	no_errors	ENST00000368476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154544260	G	A	154544260	3	1	150	1	0	0	0	0	1	0	0	0	3396	1145	40	2	979	2	CHRNB2	1	154544260	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	237617	154544260	94706361	5	24543										
RFWD2	64326	genome.wustl.edu	37	chr1	175996812	175996812	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctgagttgtctagattggtaGaccacagcttcactaagggc	11	9	2	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:175996812G>C	ENST00000367669.3	-	15	2139	c.1625C>G	c.(1624-1626)tCt>tGt	p.S542C	RFWD2_ENST00000308769.8_Missense_Mutation_p.S518C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	542					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGATTGGTAGACCACAGCTT	0.408																																					Ovarian(134;1413 1765 5706 35534 51541)												0													76	65	69					1																	175996812		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1625C>G	1.37:g.175996812G>C	ENSP00000356641:p.Ser542Cys		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S542C	ENST00000367669.3	37	c.1625	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497032	0.64186	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.71934	-0.61;-0.61;-0.61	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;0.999;0.999	D;D;D;D;D	0.81914	0.993;0.979;0.98;0.995;0.993	T	0.77763	-0.2466	10	0.22109	T	0.4	-13.6775	19.4868	0.95032	0.0:0.0:1.0:0.0	.	317;302;518;542;542	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	C	317;542;377;518	ENSP00000356641:S542C;ENSP00000356638:S377C;ENSP00000310943:S518C	ENSP00000310943:S518C	S	-	2	0	RFWD2	174263435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.269000	0.95684	2.693000	0.91896	0.650000	0.86243	TCT	RFWD2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	G	NM_022457		175996812	-1	no_errors	ENST00000367669	ensembl	human	known	70_37	missense	SNP	1.000	C	C	175996812	G	C	175996812	3	2	150	1	0	0	0	0	1	0	0	0	13290	942	33	1	594	1	RFWD2	1	175996812	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	21452552	175996812	73253809	6	24544										
KIF21B	23046	genome.wustl.edu	37	chr1	200977902	200977902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	atggggccacagtacctccaGaaactgggcgctgactttga	12	11	0	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:200977902G>A	ENST00000422435.2	-	3	758	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	KIF21B_ENST00000360529.5_Silent_p.L148L|KIF21B_ENST00000332129.2_Silent_p.L148L|KIF21B_ENST00000461742.2_Silent_p.L148L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTACCTCCAGAAACTGGGCG	0.637																																																	0													66	73	70					1																	200977902		2203	4300	6503	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.442C>T	1.37:g.200977902G>A			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.L148	ENST00000422435.2	37	c.442	CCDS58056.1	1																																																																																			KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	G	XM_371332		200977902	-1	no_errors	ENST00000422435	ensembl	human	known	70_37	silent	SNP	1.000	A	A	200977902	G	A	200977902	2	1	150	1	0	0	0	0	0	0	0	1	8309	933	33	1		1	KIF21B	1	200977902	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	24981090	200977902	48272719	7	24545										
CCDC88A	55704	genome.wustl.edu	37	chr2	55561531	55561531	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctttttccagctgttctagtCttttgctagatatttttagt	6	7	2	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:55561531C>G	ENST00000436346.1	-	15	3267	c.2426G>C	c.(2425-2427)aGa>aCa	p.R809T	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R809T|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R809T|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R809T|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	809					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGTTCTAGTCTTTTGCTAGA	0.323																																																	0													98	96	97					2																	55561531		2202	4296	6498	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2426G>C	2.37:g.55561531C>G	ENSP00000410608:p.Arg809Thr		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.R809T	ENST00000436346.1	37	c.2426		2	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247219	0.59103	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17854	2.25;2.51;2.47;2.26	5.1	5.1	0.69264	.	0.000000	0.47093	U	0.000248	T	0.40570	0.1122	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.67145	0.992;0.996;0.993;0.993;0.996	P;D;D;P;D	0.77557	0.889;0.99;0.917;0.903;0.922	T	0.13495	-1.0507	10	0.56958	D	0.05	-18.0974	18.9371	0.92590	0.0:1.0:0.0:0.0	.	809;809;809;809;809	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	T	809	ENSP00000338728:R809T;ENSP00000263630:R809T;ENSP00000410608:R809T;ENSP00000404431:R809T	ENSP00000263630:R809T	R	-	2	0	CCDC88A	55415035	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.010000	0.70753	2.550000	0.86006	0.449000	0.29647	AGA	CCDC88A	-	superfamily_Prefoldin		0.323	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55561531	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55561531	C	G	55561531	3	3	150	1	0	0	0	0	1	0	0	0	2868	913	32	1	3261	1	CCDC88A	2	55561531	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		55561531	187637842	8	24546										
CCDC88A	55704	genome.wustl.edu	37	chr2	55562045	55562045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	taataattcattttctttttCaagatgatgcaattcatttt	3	5	4	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:55562045C>T	ENST00000436346.1	-	15	2753	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E638K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E638K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E638K|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	638					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCTTTTTCAAGATGATGC	0.254																																																	0													19	18	18					2																	55562045		2187	4250	6437	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1912G>A	2.37:g.55562045C>T	ENSP00000410608:p.Glu638Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E638K	ENST00000436346.1	37	c.1912		2	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828751	0.50845	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.18	4.29	0.51040	.	0.131265	0.33438	U	0.004918	T	0.35508	0.0934	L	0.58669	1.825	0.80722	D	1	B;B;B	0.31752	0.087;0.286;0.338	B;B;B	0.36418	0.056;0.224;0.171	T	0.16453	-1.0402	10	0.45353	T	0.12	-5.8837	15.7338	0.77827	0.0:0.863:0.137:0.0	.	638;638;638	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	638	ENSP00000338728:E638K;ENSP00000263630:E638K;ENSP00000410608:E638K;ENSP00000404431:E638K	ENSP00000263630:E638K	E	-	1	0	CCDC88A	55415549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.776000	0.68924	1.153000	0.42468	0.561000	0.74099	GAA	CCDC88A	-	NULL		0.254	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55562045	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55562045	C	T	55562045	3	4	150	1	0	0	0	0	1	0	0	0	2868	835	29	1	3775	1	CCDC88A	2	55562045	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	514	55562045	187637328	9	24547										
DYTN	391475	genome.wustl.edu	37	chr2	207572075	207572075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	agtgagttccggagctctggGatgcacttgtcctgggtttt	14	8	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:207572075G>A	ENST00000452335.2	-	3	363	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	83						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGAGCTCTGGGATGCACTTGT	0.537																																																	0													75	76	75					2																	207572075		1978	4159	6137	SO:0001583	missense	391475			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.247C>T	2.37:g.207572075G>A	ENSP00000396593:p.Pro83Ser			Missense_Mutation	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.P83S	ENST00000452335.2	37	c.247	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678635	0.47886	.	.	ENSG00000232125	ENST00000452335	T	0.65732	-0.17	5.02	4.14	0.48551	EF-hand domain, type 1 (1);	.	.	.	.	T	0.67543	0.2904	L	0.27053	0.805	0.29536	N	0.852415	D	0.89917	1.0	D	0.83275	0.996	T	0.61633	-0.7023	9	0.54805	T	0.06	-8.7288	12.5672	0.56316	0.0808:0.0:0.9192:0.0	.	83	A2CJ06	DYTN_HUMAN	S	83	ENSP00000396593:P83S	ENSP00000396593:P83S	P	-	1	0	DYTN	207280320	0.995000	0.38212	0.960000	0.40013	0.086000	0.17979	2.187000	0.42602	2.753000	0.94483	0.655000	0.94253	CCC	DYTN	-	pfam_EF-hand_dom_typ1		0.537	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	G			207572075	-1	no_errors	ENST00000452335	ensembl	human	known	70_37	missense	SNP	0.982	A	A	207572075	G	A	207572075	3	1	150	1	0	0	0	0	1	0	0	0	4871	1174	41	1	1529	1	DYTN	2	207572075	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	152010030	207572075	35627298	10	24548										
MAP2	4133	genome.wustl.edu	37	chr2	210561651	210561651	+	Silent	SNP	G	G	A													0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ttattcatagcagtttataaGaaggctgaacttgctaaaaa							TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:210561651G>A	ENST00000360351.4	+	9	4904	c.4398G>A	c.(4396-4398)aaG>aaA	p.K1466K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.K1462K	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1466	Calmodulin-binding. {ECO:0000255}.				axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGTTTATAAGAAGGCTGAAC	0.338																																					Pancreas(27;423 979 28787 29963)												0													39	41	40					2																	210561651		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4398G>A	2.37:g.210561651G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.K1466	ENST00000360351.4	37	c.4398	CCDS2384.1	2																																																																																			MAP2	-	pfam_MAP2_projctn		0.338	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210561651	1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	1.000	A	A	210561651	G	A	210561651	2	1	150	1	0	0	0	0	0	0	0	1	9258	933	33	1		1	MAP2	2	210561651	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	2989576	210561651	32637722	11	24549	138	2								
MAP2	4133	genome.wustl.edu	37	chr2	210561658	210561658	+	Missense_Mutation	SNP	G	G	A													0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tagcagtttataagaaggctGaacttgctaaaaaaacagaa							TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:210561658G>A	ENST00000360351.4	+	9	4911	c.4405G>A	c.(4405-4407)Gaa>Aaa	p.E1469K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1465K	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1469					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TAAGAAGGCTGAACTTGCTAA	0.348																																					Pancreas(27;423 979 28787 29963)												0													43	45	45					2																	210561658		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4405G>A	2.37:g.210561658G>A	ENSP00000353508:p.Glu1469Lys		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1469K	ENST00000360351.4	37	c.4405	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759471	0.69763	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25250	1.81;1.81	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000007	T	0.40670	0.1126	M	0.61703	1.905	0.58432	D	0.999994	P;P	0.48016	0.882;0.904	P;P	0.49477	0.477;0.612	T	0.09596	-1.0667	10	0.46703	T	0.11	-8.0958	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1465;1469	P11137-3;P11137	.;MAP2_HUMAN	K	1469;1465	ENSP00000353508:E1469K;ENSP00000392164:E1465K	ENSP00000353508:E1469K	E	+	1	0	MAP2	210269903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.673000	0.90976	0.650000	0.86243	GAA	MAP2	-	pfam_MAP2_projctn		0.348	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210561658	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	A	A	210561658	G	A	210561658	3	1	150	1	0	0	0	0	1	0	0	0	9258	1291	45	1	4427	1	MAP2	2	210561658	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	7	210561658	32637715	12	24550	138	2								
CLASP2	23122	genome.wustl.edu	37	chr3	33580331	33580331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tttcaatggctcattcatatCttcttggctacggaagctga	8	9	5	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:33580331C>G	ENST00000468888.2	-	33	3578	c.3532G>C	c.(3532-3534)Gat>Cat	p.D1178H	CLASP2_ENST00000307312.7_Missense_Mutation_p.D659H|CLASP2_ENST00000539981.1_Missense_Mutation_p.D947H|CLASP2_ENST00000399362.4_Missense_Mutation_p.D1177H|CLASP2_ENST00000461133.3_Missense_Mutation_p.D937H|CLASP2_ENST00000480013.1_Missense_Mutation_p.D957H|CLASP2_ENST00000359576.5_Missense_Mutation_p.D1169H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	958	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCATTCATATCTTCTTGGCTA	0.323																																																	0													66	60	62					3																	33580331		1831	4081	5912	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3532G>C	3.37:g.33580331C>G	ENSP00000419974:p.Asp1178His		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D1177H	ENST00000468888.2	37	c.3529		3	.	.	.	.	.	.	.	.	.	.	C	33	5.196246	0.94960	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.23552	1.9;1.9;1.9	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.52411	-0.8579	10	0.45353	T	0.12	-21.0214	18.9739	0.92728	0.0:1.0:0.0:0.0	.	958;1169;1177	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	H	1178;1177;1169;659;947;957;937	ENSP00000419974:D1178H;ENSP00000382297:D1177H;ENSP00000352581:D1169H	ENSP00000304743:D659H	D	-	1	0	CLASP2	33555335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.486000	0.83907	0.491000	0.48974	GAT	CLASP2	-	superfamily_ARM-type_fold		0.323	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	C	NM_001207044		33580331	-1	no_errors	ENST00000399362	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33580331	C	G	33580331	3	3	150	1	0	0	0	0	1	0	0	0	3460	913	32	1	1040	1	CLASP2	3	33580331	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		33580331	164442099	13	24551										
DHFRL1	200895	genome.wustl.edu	37	chr3	93780081	93780081	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ttaaggcatcatccaaacttCtggcaagaaaatgagctcct	7	10	2	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:93780081C>G	ENST00000394221.2	-	2	724	c.275G>C	c.(274-276)aGa>aCa	p.R92T	NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R92T	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	92	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ATCCAAACTTCTGGCAAGAAA	0.388																																																	0																																										SO:0001583	missense	200895			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"dihydrofolate reductase pseudogene 4"	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.275G>C	3.37:g.93780081C>G	ENSP00000377768:p.Arg92Thr		D3DN30|Q6P4I9	Missense_Mutation	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.R92T	ENST00000394221.2	37	c.275	CCDS2926.1	3	.	.	.	.	.	.	.	.	.	.	C	3.426	-0.117197	0.06838	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.71461	-0.57;-0.57;-0.57	0.811	-0.774	0.10991	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.720404	0.13300	U	0.398316	T	0.47002	0.1422	N	0.21545	0.675	0.29042	N	0.88504	B	0.14012	0.009	B	0.10450	0.005	T	0.28332	-1.0047	10	0.14252	T	0.57	-2.7005	4.1381	0.10181	0.0:0.281:0.0:0.719	.	92	Q86XF0	DYRL1_HUMAN	T	92	ENSP00000319170:R92T;ENSP00000377768:R92T;ENSP00000420810:R92T	ENSP00000319170:R92T	R	-	2	0	DHFRL1	95262771	0.579000	0.26725	0.982000	0.44146	0.676000	0.39594	-0.408000	0.07169	-0.221000	0.09973	-0.403000	0.06358	AGA	DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom		0.388	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	C	NM_176815		93780081	-1	no_errors	ENST00000314636	ensembl	human	known	70_37	missense	SNP	0.982	G	G	93780081	C	G	93780081	3	3	150	1	0	0	0	0	1	0	0	0	4492	913	32	1	292	1	DHFRL1	3	93780081	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	60199750	93780081	104242349	14	24552										
COL6A5	256076	genome.wustl.edu	37	chr3	130124439	130124439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctccttttcttagggagtacGaggagacacaggaccccaag	11	11	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:130124439G>A	ENST00000432398.2	+	14	4783	c.4289G>A	c.(4288-4290)cGa>cAa	p.R1430Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.R1430Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1430	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGGGAGTACGAGGAGACACA	0.473																																																	0													124	115	118					3																	130124439		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4289G>A	3.37:g.130124439G>A	ENSP00000390895:p.Arg1430Gln		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1430Q	ENST00000432398.2	37	c.4289		3	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570728	0.13560	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.96136	-3.92;-3.92	5.58	3.8	0.43715	.	.	.	.	.	D	0.90762	0.7100	N	0.21583	0.68	0.24031	N	0.99611	B	0.27380	0.177	B	0.33960	0.173	T	0.83314	-0.0021	9	0.46703	T	0.11	.	6.5094	0.22214	0.1604:0.147:0.6926:0.0	.	1430	A8TX70-2	.	Q	1430	ENSP00000390895:R1430Q;ENSP00000265379:R1430Q	ENSP00000265379:R1430Q	R	+	2	0	COL6A5	131607129	0.997000	0.39634	0.823000	0.32752	0.173000	0.22820	2.819000	0.48049	0.750000	0.32877	-0.226000	0.12346	CGA	COL6A5	-	pfam_Collagen		0.473	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130124439	1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.706	A	A	130124439	G	A	130124439	3	1	150	1	0	0	0	0	1	0	0	0	3707	1058	37	1	4339	1	COL6A5	3	130124439	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	36344358	130124439	67897991	15	24553										
WDR49	151790	genome.wustl.edu	37	chr3	167217980	167217980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctccagaatttggggacgctCttcctctggttctttcctaa	8	12	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:167217980C>G	ENST00000308378.3	-	14	2241	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q	WDR49_ENST00000453925.2_Missense_Mutation_p.E611Q|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E471Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	646										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGGGACGCTCTTCCTCTGGT	0.423																																																	0													138	155	149					3																	167217980		2203	4300	6503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1936G>C	3.37:g.167217980C>G	ENSP00000311343:p.Glu646Gln		Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E646Q	ENST00000308378.3	37	c.1936	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.644|1.644	-0.515769|-0.515769	0.04200|0.04200	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53206|.	0.63;1.93;1.0|.	5.06|5.06	3.23|3.23	0.37069|0.37069	.|.	0.533085|.	0.16859|.	N|.	0.196617|.	T|T	0.35856|0.35856	0.0946|0.0946	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.09377|.	0.004;0.001|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.21540|.	T|.	0.41|.	.|.	4.6881|4.6881	0.12767|0.12767	0.0:0.6312:0.198:0.1708|0.0:0.6312:0.198:0.1708	.|.	611;646|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	Q|N	646;471;611|622	ENSP00000311343:E646Q;ENSP00000420508:E471Q;ENSP00000410863:E611Q|.	ENSP00000311343:E646Q|.	E|K	-|-	1|3	0|2	WDR49|WDR49	168700674|168700674	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.006000|0.006000	0.05464|0.05464	-0.936000|-0.936000	0.03946|0.03946	1.096000|1.096000	0.41439|0.41439	0.411000|0.411000	0.27672|0.27672	GAG|AAG	WDR49	-	NULL		0.423	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	C	NM_178824		167217980	-1	no_errors	ENST00000308378	ensembl	human	known	70_37	missense	SNP	0.006	G	G	167217980	C	G	167217980	3	3	150	1	0	0	0	0	1	0	0	0	17333	922	32	1	165	1	WDR49	3	167217980	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	37093541	167217980	30804450	16	24554										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	150	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	11718102	178936082	19086348	17	24555										
PIK3CA	5290	genome.wustl.edu	37	chr3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	atcttttctcaatgatgcttGgctctggaatgccagaacta	8	9	3	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G1007R(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCTTGGCTCTGGAAT	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	8	Substitution - Missense(8)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)											114	103	106					3																	178951964		1886	4108	5994	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G1007R	ENST00000263967.3	37	c.3019	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178951964	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178951964	G	C	178951964	3	2	150	1	0	0	0	0	1	0	0	0	11937	1348	47	4	3097	4	PIK3CA	3	178951964	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	15882	178951964	19070466	18	24556										
BCL6	604	genome.wustl.edu	37	chr3	187443293	187443293	+	Frame_Shift_Del	DEL	A	A	-													0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cccactctgctcacctgtacAaatctggctccgcaggtttc							TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:187443293delA	ENST00000406870.2	-	8	2199	c.1833delT	c.(1831-1833)tttfs	p.F611fs	BCL6_ENST00000232014.4_Frame_Shift_Del_p.F611fs|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Frame_Shift_Del_p.F555fs|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	611					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		tcacctgTACAAATCTGGCTC	0.637			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													78	79	78					3																	187443293		2203	4300	6503	SO:0001589	frameshift_variant	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1833delT	3.37:g.187443293delA	ENSP00000384371:p.Phe611fs		A7E241|B8PSA7|D3DNV5	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F611fs	ENST00000406870.2	37	c.1833	CCDS3289.1	3																																																																																			BCL6	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	A	NM_138931		187443293	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	187443293	A	-	187443293	7	5	150	1	0	1	0	1	0	0	0	0	1377	127	5	0	299	0	BCL6	3	187443293	Frame_Shift_Del	DEL	A	TCGA-IR-A3LF-01A-21D-A22X-09	8491329	187443293	10579137	19	24557										
HGFAC	3083	genome.wustl.edu	37	chr4	3446052	3446052	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cctcagagaaatgctttgatGagacccgctacgagtacctg	10	11	1	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr4:3446052G>T	ENST00000382774.3	+	6	728	c.613G>T	c.(613-615)Gag>Tag	p.E205*	HGFAC_ENST00000511533.1_Nonsense_Mutation_p.E205*	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	205	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGCTTTGATGAGACCCGCTA	0.682																																																	0													14	17	16					4																	3446052		2157	4283	6440	SO:0001587	stop_gained	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.613G>T	4.37:g.3446052G>T	ENSP00000372224:p.Glu205*		Q14726|Q2M1W7|Q53X47	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E205*	ENST00000382774.3	37	c.613	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310929	0.81358	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	.	.	.	3.61	3.61	0.41365	.	0.324812	0.28977	N	0.013524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.9622	0.35854	0.0:0.2287:0.7713:0.0	.	.	.	.	X	205	.	ENSP00000372224:E205X	E	+	1	0	HGFAC	3415850	0.000000	0.05858	0.984000	0.44739	0.139000	0.21198	0.603000	0.24149	1.858000	0.53909	0.313000	0.20887	GAG	HGFAC	-	pfam_Fibronectin_type1,smart_Fibronectin_type1,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Fibronectin_type1		0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3446052	1	no_errors	ENST00000382774	ensembl	human	known	70_37	nonsense	SNP	0.664	T	T	3446052	G	T	3446052	4	4	150	1	0	0	0	0	0	1	0	0	7106	1291	45	3	635	3	HGFAC	4	3446052	Nonsense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		3446052	187708224	20	24558										
SPATA4	132851	genome.wustl.edu	37	chr4	177114225	177114225	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ttaaatttttttcttgccagGaactttaatagtagaaagaa	6	4	1	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr4:177114225G>A	ENST00000280191.2	-	3	459	c.351C>T	c.(349-351)ttC>ttT	p.F117F	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	117						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTCTTGCCAGGAACTTTAATA	0.279																																																	0													28	30	30					4																	177114225		2200	4279	6479	SO:0001819	synonymous_variant	132851			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.351C>T	4.37:g.177114225G>A			Q8NCS5|Q8WW15	Silent	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.F117	ENST00000280191.2	37	c.351	CCDS3826.1	4																																																																																			SPATA4	-	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain		0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	G	NM_144644		177114225	-1	no_errors	ENST00000280191	ensembl	human	known	70_37	silent	SNP	1.000	A	A	177114225	G	A	177114225	2	1	150	1	0	0	0	0	0	0	0	1	15040	1165	41	1		1	SPATA4	4	177114225	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	173668173	177114225	14040051	21	24559										
SDHA	6389	genome.wustl.edu	37	chr5	226026	226026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ttatggcatgccgtttagcaGaactgaagatgggaagattt	12	5	0	4			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:226026G>C	ENST00000264932.6	+	5	600	c.485G>C	c.(484-486)aGa>aCa	p.R162T	SDHA_ENST00000504309.1_Missense_Mutation_p.R162T|SDHA_ENST00000510361.1_Missense_Mutation_p.R114T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	162					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTTTAGCAGAACTGAAGAT	0.453									Familial Paragangliomas																																								0													95	96	96					5																	226026		2203	4297	6500	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.485G>C	5.37:g.226026G>C	ENSP00000264932:p.Arg162Thr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.R162T	ENST00000264932.6	37	c.485	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	-	17.75	3.466339	0.63625	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.67345	-0.26;-0.26;-0.26	5.15	5.15	0.70609	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.84543	0.5495	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;1.0;1.0;1.0;1.0	D	0.87498	0.2431	10	0.87932	D	0	.	16.5341	0.84368	0.0:0.0:1.0:0.0	.	114;162;162;162;168	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	162;162;114	ENSP00000264932:R162T;ENSP00000426514:R162T;ENSP00000427703:R114T	ENSP00000264932:R162T	R	+	2	0	SDHA	279026	1.000000	0.71417	0.998000	0.56505	0.187000	0.23431	9.380000	0.97202	2.560000	0.86352	0.644000	0.83932	AGA	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.453	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		226026	1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	C	C	226026	G	C	226026	3	2	150	1	0	0	0	0	1	0	0	0	13993	942	33	1	503	1	SDHA	5	226026	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		226026	180689234	22	24560										
ANKRD55	79722	genome.wustl.edu	37	chr5	55407482	55407482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tctgtatcggtccctgctggGatccttctgatgggctctct	11	12	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:55407482G>A	ENST00000341048.4	-	10	1244	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	ANKRD55_ENST00000434982.2_Missense_Mutation_p.P77S|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.P322S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	365										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCCCTGCTGGGATCCTTCTGA	0.512																																																	0													243	236	238					5																	55407482		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1093C>T	5.37:g.55407482G>A	ENSP00000342295:p.Pro365Ser		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P365S	ENST00000341048.4	37	c.1093	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313677	0.23908	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36340	1.48;1.26;1.67	5.46	5.46	0.80206	.	1.094240	0.06809	N	0.789995	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.09377	0.001;0.004	T	0.08659	-1.0711	10	0.09084	T	0.74	.	12.8209	0.57692	0.0:0.0:0.7302:0.2698	.	365;364	B3KVT8;Q3KP44	.;ANR55_HUMAN	S	365;365;322;77	ENSP00000342295:P365S;ENSP00000424230:P322S;ENSP00000429421:P77S	ENSP00000342295:P365S	P	-	1	0	ANKRD55	55443239	0.774000	0.28592	0.295000	0.24960	0.899000	0.52679	2.689000	0.46993	2.742000	0.94016	0.558000	0.71614	CCC	ANKRD55	-	NULL		0.512	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	G	NM_024669		55407482	-1	no_errors	ENST00000341048	ensembl	human	known	70_37	missense	SNP	0.053	A	A	55407482	G	A	55407482	3	1	150	1	0	0	0	0	1	0	0	0	681	1174	41	1	763	1	ANKRD55	5	55407482	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	55181456	55407482	125507778	23	24561										
RGS7BP	401190	genome.wustl.edu	37	chr5	63802466	63802466	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gtatgcatgagttctgcaccGaatgggcgcaaaaagcgccc	12	11	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:63802466G>A	ENST00000334025.2	+	1	341	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	5					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GTTCTGCACCGAATGGGCGCA	0.692																																																	0													18	24	22					5																	63802466		2202	4299	6501	SO:0001819	synonymous_variant	401190			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.15G>A	5.37:g.63802466G>A			B7Z3X1	Silent	SNP	NULL	p.P5	ENST00000334025.2	37	c.15	CCDS34170.1	5																																																																																			RGS7BP	-	NULL		0.692	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	HGNC	protein_coding	OTTHUMT00000368464.1	G	NM_001029875		63802466	1	no_errors	ENST00000334025	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63802466	G	A	63802466	2	1	150	1	0	0	0	0	0	0	0	1	13341	1045	37	1		1	RGS7BP	5	63802466	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	8394984	63802466	117112794	24	24562										
ERAP2	64167	genome.wustl.edu	37	chr5	96249054	96249054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ggaatggaaggaaaggttatCaagacacagaacttggcagc	13	6	1	2	rs199653916		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:96249054C>G	ENST00000437043.3	+	17	3261	c.2550C>G	c.(2548-2550)atC>atG	p.I850M	ERAP2_ENST00000379904.4_Missense_Mutation_p.I805M|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	850					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GAAAGGTTATCAAGACACAGA	0.393																																																	0													70	67	68					5																	96249054		2203	4300	6503	SO:0001583	missense	64167			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2550C>G	5.37:g.96249054C>G	ENSP00000400376:p.Ile850Met		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.I850M	ENST00000437043.3	37	c.2550	CCDS4086.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.573996|2.573996	0.45902|0.45902	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000437043;ENST00000379904|ENST00000512869	T;T|.	0.09073|.	3.02;3.02|.	4.84|4.84	1.69|1.69	0.24217|0.24217	.|.	0.141451|.	0.45361|.	N|.	0.000375|.	T|T	0.53334|0.53334	0.1790|0.1790	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999997|0.999997	D;P|.	0.54047|.	0.964;0.95|.	P;P|.	0.62184|.	0.885;0.899|.	T|T	0.45702|0.45702	-0.9243|-0.9243	10|5	0.66056|.	D|.	0.02|.	.|.	3.8526|3.8526	0.08962|0.08962	0.2255:0.5479:0.1347:0.0919|0.2255:0.5479:0.1347:0.0919	.|.	805;850|.	Q6P179-3;Q6P179|.	.;ERAP2_HUMAN|.	M|E	850;805|5	ENSP00000400376:I850M;ENSP00000369235:I805M|.	ENSP00000369235:I805M|.	I|Q	+|+	3|1	3|0	ERAP2|ERAP2	96274810|96274810	0.968000|0.968000	0.33430|0.33430	0.962000|0.962000	0.40283|0.40283	0.968000|0.968000	0.65278|0.65278	-0.084000|-0.084000	0.11268|0.11268	0.502000|0.502000	0.28037|0.28037	0.563000|0.563000	0.77884|0.77884	ATC|CAA	ERAP2	-	NULL		0.393	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	C	NM_022350		96249054	1	no_errors	ENST00000437043	ensembl	human	known	70_37	missense	SNP	0.798	G	G	96249054	C	G	96249054	3	3	150	1	0	0	0	0	1	0	0	0	5216	816	29	1	2612	1	ERAP2	5	96249054	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	32446588	96249054	84666206	25	24563										
PCDHA7	56141	genome.wustl.edu	37	chr5	140215713	140215713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cgcagtgagagagcttgtgcCgcggtctgtgggcgcgggcc	19	11	1	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:140215713C>T	ENST00000525929.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA7_ENST00000378125.3_Missense_Mutation_p.P582L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTTGTGCCGCGGTCTGTG	0.652																																					NSCLC(160;258 2013 5070 22440 28951)												0													100	100	100					5																	140215713		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1745C>T	5.37:g.140215713C>T	ENSP00000436426:p.Pro582Leu		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P582L	ENST00000525929.1	37	c.1745	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	5.420	0.262706	0.10294	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.39229	1.09;1.09	3.67	3.67	0.42095	Cadherin (2);Cadherin-like (1);	0.681849	0.11130	U	0.596499	T	0.40040	0.1101	L	0.53561	1.675	0.09310	N	1	B;B	0.22080	0.064;0.016	B;B	0.28849	0.095;0.005	T	0.34428	-0.9829	10	0.59425	D	0.04	.	7.6065	0.28105	0.1654:0.743:0.0:0.0916	.	582;582	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	582	ENSP00000436426:P582L;ENSP00000367365:P582L	ENSP00000367365:P582L	P	+	2	0	PCDHA7	140195897	0.003000	0.15002	0.003000	0.11579	0.018000	0.09664	2.003000	0.40844	2.028000	0.59812	0.462000	0.41574	CCG	PCDHA7	-	superfamily_Cadherin-like,pfscan_Cadherin		0.652	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	C	NM_018910		140215713	1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.011	T	T	140215713	C	T	140215713	3	4	150	1	0	0	0	0	1	0	0	0	11553	652	23	2	1747	2	PCDHA7	5	140215713	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	43966659	140215713	40699547	26	24564										
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730998	140730998	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aagaagttcctttcaaattaGaatccacctcgaagaattat	5	8	1	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:140730998G>T	ENST00000523390.1	+	1	1171	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAAATTAGAATCCACCTC	0.463																																																	0													56	56	56					5																	140730998		1916	4134	6050	SO:0001587	stop_gained	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1171G>T	5.37:g.140730998G>T	ENSP00000429273:p.Glu391*		Q3SY75|Q9Y5C8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E391*	ENST00000523390.1	37	c.1171	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	25.5	4.648894	0.87958	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.49	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	15.9108	0.79473	0.0:0.1405:0.8595:0.0	.	.	.	.	X	391	.	ENSP00000429273:E391X	E	+	1	0	PCDHGB1	140711182	0.000000	0.05858	0.790000	0.31976	0.780000	0.44128	-0.430000	0.06973	1.413000	0.46997	0.563000	0.77884	GAA	PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140730998	1	no_errors	ENST00000523390	ensembl	human	known	70_37	nonsense	SNP	0.049	T	T	140730998	G	T	140730998	4	4	150	1	0	0	0	0	0	1	0	0	11586	943	33	3	1173	3	PCDHGB1	5	140730998	Nonsense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	515285	140730998	40184262	27	24565										
HLA-G	3135	genome.wustl.edu	37	chr6	29796006	29796006	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aggggccggagtattgggaaGaggagacacggaacaccaag	17	7	0	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:29796006G>C	ENST00000360323.6	+	2	280	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	HLA-G_ENST00000376818.3_Missense_Mutation_p.E86Q|HLA-G_ENST00000428701.1_Missense_Mutation_p.E86Q|HLA-G_ENST00000376828.2_Missense_Mutation_p.E91Q|HLA-G_ENST00000376815.3_Missense_Mutation_p.E86Q			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	86	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GTATTGGGAAGAGGAGACACG	0.642																																																	0													63	40	48					6																	29796006		1511	2709	4220	SO:0001583	missense	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.256G>C	6.37:g.29796006G>C	ENSP00000353472:p.Glu86Gln			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E91Q	ENST00000360323.6	37	c.271	CCDS4668.1	6	.	.	.	.	.	.	.	.	.	.	.	1.947	-0.442265	0.04604	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82	1.71	-3.42	0.04825	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	5.397930	0.03049	U	0.154315	T	0.00356	0.0011	L	0.37697	1.125	0.09310	N	1	B;B;B;B	0.33379	0.31;0.005;0.41;0.009	B;B;B;B	0.41174	0.056;0.012;0.349;0.008	T	0.43048	-0.9415	10	0.14656	T	0.56	.	9.4309	0.38608	0.0:0.3909:0.6091:0.0	.	86;91;86;86	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	Q	91;86;86;86;86	ENSP00000366024:E91Q;ENSP00000412927:E86Q;ENSP00000353472:E86Q;ENSP00000366014:E86Q;ENSP00000366011:E86Q	ENSP00000353472:E86Q	E	+	1	0	HLA-G	29903985	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.413000	0.00479	-1.102000	0.03023	-0.846000	0.03041	GAG	HLA-G	-	pfam_MHC_I_a_a1/a2,prints_MHC_I_a_a1/a2		0.642	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	G	NM_002127		29796006	1	no_errors	ENST00000376828	ensembl	human	known	70_37	missense	SNP	0.000	C	C	29796006	G	C	29796006	3	2	150	1	0	0	0	0	1	0	0	0	7232	943	33	1	262	1	HLA-G	6	29796006	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		29796006	141319061	28	24566										
DHX16	8449	genome.wustl.edu	37	chr6	30633382	30633382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tatttgagctcctgccgctcGtgccggctcagctccacgtc	10	16	1	1	rs201025174		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:30633382G>A	ENST00000376442.3	-	5	990	c.795C>T	c.(793-795)caC>caT	p.H265H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	265					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCTGCCGCTCGTGCCGGCTCA	0.632													G|||	1	0.000199681	0	0	5008	,	,		17203	0.001		0	False		,,,				2504	0																0													73	72	73					6																	30633382		1511	2709	4220	SO:0001819	synonymous_variant	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.795C>T	6.37:g.30633382G>A			O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H265	ENST00000376442.3	37	c.795	CCDS4685.1	6																																																																																			DHX16	-	NULL		0.632	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	G	NM_003587		30633382	-1	no_errors	ENST00000376442	ensembl	human	known	70_37	silent	SNP	0.131	A	A	30633382	G	A	30633382	2	1	150	1	0	0	0	0	0	0	0	1	4512	1136	40	2		2	DHX16	6	30633382	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	837376	30633382	140481685	29	24567										
KIAA0240	23506	genome.wustl.edu	37	chr6	42790704	42790704	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cttgactaatgcaggatattCtgcagccaattcaaattcaa	6	9	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:42790704C>T	ENST00000314073.5	+	5	298	c.122C>T	c.(121-123)tCt>tTt	p.S41F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S41F			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	41																	GCAGGATATTCTGCAGCCAAT	0.353																																																	0													118	107	110					6																	42790704		2202	4300	6502	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.122C>T	6.37:g.42790704C>T	ENSP00000313933:p.Ser41Phe		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.S41F	ENST00000314073.5	37	c.122	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579136	0.86645	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.51325	0.71;0.71	6.05	6.05	0.98169	.	0.159446	0.45867	D	0.000334	T	0.49474	0.1559	L	0.51422	1.61	0.58432	D	0.999992	P;B;B	0.46142	0.873;0.069;0.25	P;B;B	0.49999	0.628;0.068;0.066	T	0.49986	-0.8880	10	0.87932	D	0	-2.9362	20.6087	0.99469	0.0:1.0:0.0:0.0	.	41;41;41	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	F	41	ENSP00000313933:S41F;ENSP00000377723:S41F	ENSP00000313933:S41F	S	+	2	0	KIAA0240	42898682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.310000	0.65780	2.866000	0.98385	0.650000	0.86243	TCT	KIAA0240	-	NULL		0.353	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	C	NM_015349		42790704	1	no_errors	ENST00000314073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42790704	C	T	42790704	3	4	150	1	0	0	0	0	1	0	0	0	8184	913	32	1	132	1	KIAA0240	6	42790704	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	12157322	42790704	128324363	30	24568										
DST	667	genome.wustl.edu	37	chr6	56417462	56417462	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ccctgaagcttggtttctaaGaaagaacacttttcatcaac	6	10	3	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:56417462G>A	ENST00000361203.3	-	57	15502	c.15495C>T	c.(15493-15495)ttC>ttT	p.F5165F	DST_ENST00000370754.5_Silent_p.F5345F|DST_ENST00000446842.2_Silent_p.F4841F|DST_ENST00000370788.2_Silent_p.F3079F|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.F2753F|DST_ENST00000370769.4_Silent_p.F5167F|DST_ENST00000421834.2_Silent_p.F3079F			Q03001	DYST_HUMAN	dystonin	5165					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGTTTCTAAGAAAGAACACT	0.418																																																	0													63	59	60					6																	56417462		1884	4122	6006	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15495C>T	6.37:g.56417462G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.F5345	ENST00000361203.3	37	c.16035		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56417462	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56417462	G	A	56417462	2	1	150	1	0	0	0	0	0	0	0	1	4793	933	33	1		1	DST	6	56417462	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	13626758	56417462	114697605	31	24569										
RIMS1	22999	genome.wustl.edu	37	chr6	72984127	72984127	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	atccagcatgcgtctccggaGaatgacaggtactagtcaac	10	11	2	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:72984127G>A	ENST00000521978.1	+	23	3474	c.3474G>A	c.(3472-3474)gaG>gaA	p.E1158E	RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Silent_p.E1094E|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1158					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGTCTCCGGAGAATGACAGGT	0.493																																																	0													62	59	60					6																	72984127		1910	4125	6035	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3474G>A	6.37:g.72984127G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.E1158	ENST00000521978.1	37	c.3474	CCDS47449.1	6																																																																																			RIMS1	-	NULL		0.493	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72984127	1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72984127	G	A	72984127	2	1	150	1	0	0	0	0	0	0	0	1	13397	933	33	1		1	RIMS1	6	72984127	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	16566665	72984127	98130940	32	24570										
ENPP1	5167	genome.wustl.edu	37	chr6	132171171	132171171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gtttcgagagaacatttgggAactgtcgctgtgatgctgcc	13	8	0	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:132171171A>G	ENST00000360971.2	+	3	375	c.355A>G	c.(355-357)Aac>Gac	p.N119D		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	119	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AACATTTGGGAACTGTCGCTG	0.393																																					Colon(104;336 1535 5856 11019 33782)												0													155	144	147					6																	132171171		2203	4300	6503	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.355A>G	6.37:g.132171171A>G	ENSP00000354238:p.Asn119Asp		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.N119D	ENST00000360971.2	37	c.355	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260170	0.59321	.	.	ENSG00000197594	ENST00000360971	T	0.41758	0.99	5.53	5.53	0.82687	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.215941	0.41097	D	0.000945	T	0.18045	0.0433	N	0.25201	0.72	0.33835	D	0.630785	B	0.28026	0.198	B	0.28011	0.085	T	0.11036	-1.0604	10	0.45353	T	0.12	-21.1275	14.9356	0.70951	1.0:0.0:0.0:0.0	.	119	P22413	ENPP1_HUMAN	D	119	ENSP00000354238:N119D	ENSP00000354238:N119D	N	+	1	0	ENPP1	132212864	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.000000	0.70678	2.227000	0.72691	0.528000	0.53228	AAC	ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata		0.393	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	A			132171171	1	no_errors	ENST00000360971	ensembl	human	known	70_37	missense	SNP	1.000	G	G	132171171	A	G	132171171	3	3	150	1	0	0	0	0	1	0	0	0	5141	246	9	5	365	5	ENPP1	6	132171171	Missense_Mutation	SNP	A	TCGA-IR-A3LF-01A-21D-A22X-09	59187044	132171171	38943896	33	24571										
ABCA13	154664	genome.wustl.edu	37	chr7	48412032	48412032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tggtgtacatgatcagctttCtgccctacatagttctattg	8	9	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:48412032C>T	ENST00000435803.1	+	33	11095	c.11071C>T	c.(11071-11073)Ctg>Ttg	p.L3691L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3691					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATCAGCTTTCTGCCCTACAT	0.378																																																	0													148	140	143					7																	48412032		1927	4133	6060	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11071C>T	7.37:g.48412032C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L3691	ENST00000435803.1	37	c.11071	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48412032	1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.931	T	T	48412032	C	T	48412032	2	4	150	1	0	0	0	0	0	0	0	1	31	912	32	1		1	ABCA13	7	48412032	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		48412032	110726631	34	24572										
GTF2I	2969	genome.wustl.edu	37	chr7	74113412	74113412	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aaaacagttgaggactatttCtgcttttgctatggtaaaaa	8	5	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:74113412C>T	ENST00000324896.4	+	4	749	c.360C>T	c.(358-360)ttC>ttT	p.F120F	AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Silent_p.F120F|GTF2I_ENST00000353920.4_Silent_p.F120F|GTF2I_ENST00000346152.4_Silent_p.F120F|GTF2I_ENST00000443166.1_Silent_p.F120F	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	120					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGACTATTTCTGCTTTTGCT	0.308																																																	0													39	39	39					7																	74113412		2200	4299	6499	SO:0001819	synonymous_variant	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.360C>T	7.37:g.74113412C>T			O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.F120	ENST00000324896.4	37	c.360	CCDS5573.1	7																																																																																			GTF2I	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.308	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	C	NM_032999		74113412	1	no_errors	ENST00000324896	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74113412	C	T	74113412	2	4	150	1	0	0	0	0	0	0	0	1	6887	912	32	1		1	GTF2I	7	74113412	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	25701380	74113412	85025251	35	24573										
TRRAP	8295	genome.wustl.edu	37	chr7	98580932	98580932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aggaagctgcacaaatcaacGcaggcttacagccaaccaac	8	13	1	0	rs537483764		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:98580932G>A	ENST00000359863.4	+	59	9060	c.8851G>A	c.(8851-8853)Gca>Aca	p.A2951T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A2933T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A2933T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2951	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAATCAACGCAGGCTTACA	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		19255	0		0	False		,,,				2504	0																0													134	100	112					7																	98580932		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8851G>A	7.37:g.98580932G>A	ENSP00000352925:p.Ala2951Thr		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A2951T	ENST00000359863.4	37	c.8851	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103462	0.37145	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.68903	-0.36;-0.36	5.48	5.48	0.80851	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	N	0.14661	0.345	0.80722	D	1	P;P;P	0.43938	0.822;0.546;0.708	B;B;B	0.30105	0.097;0.063;0.111	T	0.48854	-0.8998	10	0.12103	T	0.63	.	19.3398	0.94336	0.0:0.0:1.0:0.0	.	2933;2672;2951	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	2951;2933;2932	ENSP00000352925:A2951T;ENSP00000347733:A2933T	ENSP00000347733:A2933T	A	+	1	0	TRRAP	98418868	1.000000	0.71417	0.263000	0.24496	0.958000	0.62258	8.006000	0.88564	2.571000	0.86741	0.650000	0.86243	GCA	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98580932	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98580932	G	A	98580932	3	1	150	1	0	0	0	0	1	0	0	0	16632	1087	38	2	9023	2	TRRAP	7	98580932	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	24467520	98580932	60557731	36	24574										
NUP205	23165	genome.wustl.edu	37	chr7	135276246	135276246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tgggtgacctgttgcctccaActatttatattccttatttg	7	9	0	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:135276246A>G	ENST00000285968.6	+	11	1548	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	508					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTGCCTCCAACTATTTATAT	0.398																																																	0													129	122	125					7																	135276246		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1522A>G	7.37:g.135276246A>G	ENSP00000285968:p.Thr508Ala		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_DUF3414	p.T508A	ENST00000285968.6	37	c.1522	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512469	0.64522	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.71036	2.16	0.80722	D	1	P	0.40731	0.728	B	0.42771	0.397	T	0.28964	-1.0027	10	0.02654	T	1	-12.5483	16.4484	0.83959	1.0:0.0:0.0:0.0	.	508	Q92621	NU205_HUMAN	A	508	ENSP00000285968:T508A	ENSP00000285968:T508A	T	+	1	0	NUP205	134926786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.305000	0.78891	2.285000	0.76669	0.533000	0.62120	ACT	NUP205	-	pfam_DUF3414		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	A			135276246	1	no_errors	ENST00000285968	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135276246	A	G	135276246	3	3	150	1	0	0	0	0	1	0	0	0	10783	43	2	5	1564	5	NUP205	7	135276246	Missense_Mutation	SNP	A	TCGA-IR-A3LF-01A-21D-A22X-09	36695314	135276246	23862417	37	24575										
CASP2	835	genome.wustl.edu	37	chr7	142989416	142989416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aaagtgggcagtttcagccaGaatgtggaactcctcaactt	10	9	2	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:142989416G>C	ENST00000310447.5	+	3	490	c.249G>C	c.(247-249)caG>caC	p.Q83H	CASP2_ENST00000392925.2_Missense_Mutation_p.Q83H|RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	83	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GTTTCAGCCAGAATGTGGAAC	0.453																																																	0													120	121	120					7																	142989416		2203	4300	6503	SO:0001583	missense	835			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.249G>C	7.37:g.142989416G>C	ENSP00000312664:p.Gln83His		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q83H	ENST00000310447.5	37	c.249	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	g	17.14	3.314461	0.60524	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.51817	0.69;0.69	5.68	1.89	0.25635	DEATH-like (2);Caspase Recruitment (3);	0.049699	0.85682	D	0.000000	T	0.65450	0.2692	M	0.82517	2.595	0.44247	D	0.997094	D;D	0.76494	0.999;0.999	D;D	0.75020	0.983;0.985	T	0.63849	-0.6544	10	0.72032	D	0.01	.	7.9971	0.30275	0.4749:0.0:0.5251:0.0	.	83;83	E9PDN0;P42575	.;CASP2_HUMAN	H	83;83;52	ENSP00000312664:Q83H;ENSP00000376656:Q83H	ENSP00000312664:Q83H	Q	+	3	2	CASP2	142699538	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.675000	0.37555	0.080000	0.16959	0.650000	0.86243	CAG	CASP2	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.453	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	G	NM_032982		142989416	1	no_errors	ENST00000310447	ensembl	human	known	70_37	missense	SNP	0.999	C	C	142989416	G	C	142989416	3	2	150	1	0	0	0	0	1	0	0	0	2676	933	33	1	259	1	CASP2	7	142989416	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	7713170	142989416	16149247	38	24576										
DLC1	10395	genome.wustl.edu	37	chr8	13357394	13357394	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctctgatccatgacagcagtCaggtagtgaaacacacttct	8	11	3	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr8:13357394C>T	ENST00000276297.4	-	2	596	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DLC1_ENST00000316609.5_Missense_Mutation_p.D63N|DLC1_ENST00000511869.1_Missense_Mutation_p.D63N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	63					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGACAGCAGTCAGGTAGTGAA	0.458																																																	0													245	253	250					8																	13357394		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.187G>A	8.37:g.13357394C>T	ENSP00000276297:p.Asp63Asn		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.D63N	ENST00000276297.4	37	c.187	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315666	0.40996	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.29655	1.56;1.56;1.56	5.01	4.13	0.48395	.	0.154190	0.30401	N	0.009705	T	0.28101	0.0693	L	0.54323	1.7	0.31046	N	0.715812	B;B;B	0.33583	0.36;0.412;0.418	B;B;B	0.32583	0.139;0.148;0.112	T	0.38542	-0.9656	10	0.72032	D	0.01	.	9.3465	0.38111	0.0:0.7795:0.1445:0.076	.	63;63;63	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	63	ENSP00000276297:D63N;ENSP00000321034:D63N;ENSP00000425878:D63N	ENSP00000276297:D63N	D	-	1	0	DLC1	13401765	0.993000	0.37304	0.900000	0.35374	0.579000	0.36224	3.046000	0.49846	1.490000	0.48466	0.655000	0.94253	GAC	DLC1	-	NULL		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		13357394	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	missense	SNP	0.952	T	T	13357394	C	T	13357394	3	4	150	1	0	0	0	0	1	0	0	0	4560	826	29	1	4552	1	DLC1	8	13357394	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		13357394	133006628	39	24577										
ZNF572	137209	genome.wustl.edu	37	chr8	125989129	125989129	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cctcccatcttattatccatGagagaactcacacgggagag	8	12	2	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr8:125989129G>C	ENST00000319286.5	+	3	773	c.619G>C	c.(619-621)Gag>Cag	p.E207Q		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TATTATCCATGAGAGAACTCA	0.473										HNSCC(60;0.17)																																							0													79	82	81					8																	125989129		2203	4300	6503	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.619G>C	8.37:g.125989129G>C	ENSP00000319305:p.Glu207Gln		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E207Q	ENST00000319286.5	37	c.619	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764867	0.02996	.	.	ENSG00000180938	ENST00000319286	T	0.17691	2.26	5.19	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129681	0.34932	N	0.003568	T	0.04543	0.0124	N	0.02142	-0.665	0.23293	N	0.997966	B	0.30068	0.267	B	0.28385	0.089	T	0.41875	-0.9484	10	0.02654	T	1	-8.1276	7.0218	0.24918	0.2714:0.0:0.7286:0.0	.	207	Q7Z3I7	ZN572_HUMAN	Q	207	ENSP00000319305:E207Q	ENSP00000319305:E207Q	E	+	1	0	ZNF572	126058310	0.006000	0.16342	0.893000	0.35052	0.982000	0.71751	0.104000	0.15313	0.758000	0.33059	0.655000	0.94253	GAG	ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	G	NM_152412		125989129	1	no_errors	ENST00000319286	ensembl	human	known	70_37	missense	SNP	0.994	C	C	125989129	G	C	125989129	3	2	150	1	0	0	0	0	1	0	0	0	18034	1291	45	1	625	1	ZNF572	8	125989129	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	112631735	125989129	20374893	40	24578										
ENHO	375704	genome.wustl.edu	37	chr9	34521558	34521558	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gctggagttgggactggattCagagagagagtcaacgtcgg	17	6	2	2	rs559403361|rs578062288		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:34521558C>T	ENST00000399775.2	-	2	561	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	46						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						GGACTGGATTCAGAGAGAGAG	0.627													C|||	1	0.000199681	0	0	5008	,	,		18114	0		0	False		,,,				2504	0.001																0													66	81	76					9																	34521558		2163	4262	6425	SO:0001583	missense	375704			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"adropin"		"chromosome 9 open reading frame 165"	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.136G>A	9.37:g.34521558C>T	ENSP00000382675:p.Glu46Lys		Q8N666	Missense_Mutation	SNP	NULL	p.E46K	ENST00000399775.2	37	c.136	CCDS43795.1	9	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345388	0.41498	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	4.59	3.64	0.41730	.	0.176284	0.27469	N	0.019239	T	0.31231	0.0790	.	.	.	0.21147	N	0.999772	B	0.26445	0.149	B	0.17433	0.018	T	0.33007	-0.9885	8	0.87932	D	0	.	10.7154	0.46008	0.0:0.8079:0.1921:0.0	.	46	Q6UWT2	ENHO_HUMAN	K	46	.	ENSP00000305955:E46K	E	-	1	0	ENHO	34511558	0.964000	0.33143	0.939000	0.37840	0.867000	0.49689	2.240000	0.43088	2.381000	0.81170	0.555000	0.69702	GAA	ENHO	-	NULL		0.627	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENHO	HGNC	protein_coding	OTTHUMT00000356348.1	C	NM_198573		34521558	-1	no_errors	ENST00000399775	ensembl	human	known	70_37	missense	SNP	0.605	T	T	34521558	C	T	34521558	3	4	150	1	0	0	0	0	1	0	0	0	5131	835	29	1	98	1	ENHO	9	34521558	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		34521558	106691873	41	24579										
PRUNE2	158471	genome.wustl.edu	37	chr9	79319881	79319881	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctggtttccctcacttcttcGatcaggaagtgcagaaagca	9	11	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:79319881G>A	ENST00000376718.3	-	8	7432	c.7309C>T	c.(7309-7311)Cga>Tga	p.R2437*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.R2078*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2437					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACTTCTTCGATCAGGAAGT	0.517											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53	47	49					9																	79319881		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7309C>T	9.37:g.79319881G>A	ENSP00000365908:p.Arg2437*	1190	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R2078*	ENST00000376718.3	37	c.6232	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.139701|7.139701	0.98088|0.98088	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	.|.	.|.	.|.	4.4|4.4	-8.47|-8.47	0.00939|0.00939	.|.	2.089460|.	0.01724|.	N|.	0.028442|.	.|T	.|0.28962	.|0.0719	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36504	.|-0.9745	.|4	0.02654|.	T|.	1|.	7.2888|7.2888	11.3128|11.3128	0.49375|0.49375	0.0:0.5484:0.1407:0.3109|0.0:0.5484:0.1407:0.3109	.|.	.|.	.|.	.|.	X|L	2437;2078;2436|1758	.|.	ENSP00000365908:R2437X|.	R|S	-|-	1|2	2|0	PRUNE2|PRUNE2	78509701|78509701	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-1.083000|-1.083000	0.03397|0.03397	-1.302000|-1.302000	0.02335|0.02335	-0.703000|-0.703000	0.03666|0.03666	CGA|TCG	PRUNE2	-	NULL		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79319881	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	79319881	G	A	79319881	4	1	150	1	0	0	0	0	0	1	0	0	12668	1066	37	1	2005	1	PRUNE2	9	79319881	Nonsense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	44798323	79319881	61893550	42	24580										
OGN	4969	genome.wustl.edu	37	chr9	95152240	95152240	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aagttttagtagttgattttCagcaagtgaaagttcttcta	8	4	3	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:95152240C>A	ENST00000262551.4	-	5	946	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	OGN_ENST00000375561.5_Nonsense_Mutation_p.E176*|CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTTGATTTTCAGCAAGTGAA	0.323																																																	0													115	117	117					9																	95152240		2202	4299	6501	SO:0001587	stop_gained	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.526G>T	9.37:g.95152240C>A	ENSP00000262551:p.Glu176*		Q6FIB0|Q9UF90|Q9UNK5	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E176*	ENST00000262551.4	37	c.526	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256115	0.80246	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	.	.	.	5.27	5.27	0.74061	.	0.046986	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.263	0.93975	0.0:1.0:0.0:0.0	.	.	.	.	X	176;176;234	.	ENSP00000262551:E176X	E	-	1	0	OGN	94192061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.643000	0.89663	0.655000	0.94253	GAA	OGN	-	smart_Leu-rich_rpt_typical-subtyp		0.323	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	C	NM_024416		95152240	-1	no_errors	ENST00000262551	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	95152240	C	A	95152240	4	1	150	1	0	0	0	0	0	1	0	0	10870	835	29	3	382	3	OGN	9	95152240	Nonsense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	15832359	95152240	46061191	43	24581										
SETX	23064	genome.wustl.edu	37	chr9	135204702	135204702	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tttaaagagaaatcttcattCgatgtggacactttttccaa	6	7	2	1	rs370328795		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:135204702C>T	ENST00000224140.5	-	10	2465	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	SETX_ENST00000372169.2_Silent_p.S761S|SETX_ENST00000393220.1_Silent_p.S761S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	761					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCTTCATTCGATGTGGACA	0.368																																																	0								T		1,4405		0,1,2202	118	114	116		2283	1.9	0	9		116	0,8600		0,0,4300	no	coding-synonymous	SETX	NM_015046.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		761/2678	135204702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2283G>A	9.37:g.135204702C>T			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.S761	ENST00000224140.5	37	c.2283	CCDS6947.1	9																																																																																			SETX	-	NULL		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	C	NM_015046		135204702	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	silent	SNP	0.031	T	T	135204702	C	T	135204702	2	4	150	1	0	0	0	0	0	0	0	1	14171	871	31	1		1	SETX	9	135204702	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	40052462	135204702	6008729	44	24582										
ITGA8	8516	genome.wustl.edu	37	chr10	15561412	15561412	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	caaataactgatgtcttaatCtgaaatggaaaacaaagcaa	6	6	2	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr10:15561412C>T	ENST00000378076.3	-	29	3336		c.e29-1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATGTCTTAATCTGAAATGGAA	0.358																																																	0													114	123	120					10																	15561412		2203	4299	6502	SO:0001630	splice_region_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2983-1G>A	10.37:g.15561412C>T			B0YJ31|Q5VX94	Splice_Site	SNP	-	e29-1	ENST00000378076.3	37	c.2983-1	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604621	0.87157	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5149	0.90933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15601418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.475000	0.73582	2.822000	0.97130	0.650000	0.86243	.	ITGA8	-	-		0.358	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	C	NM_003638	Intron	15561412	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	15561412	C	T	15561412	5	4	150	1	0	0	0	0	0	0	1	0	7902	927	32	1	217	1	ITGA8	10	15561412	Splice_Site	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		15561412	119973335	45	24583										
DOCK1	1793	genome.wustl.edu	37	chr10	129172094	129172094	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tcatgaagtcgaaggaggcaGaggagacgaacagtacaaag	14	6	1	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr10:129172094G>C	ENST00000280333.6	+	34	3528	c.3419G>C	c.(3418-3420)aGa>aCa	p.R1140T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1140					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAAGGAGGCAGAGGAGACGAA	0.378																																																	0													117	123	121					10																	129172094		1991	4192	6183	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3419G>C	10.37:g.129172094G>C	ENSP00000280333:p.Arg1140Thr		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.R1140T	ENST00000280333.6	37	c.3419		10	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995599	0.54147	.	.	ENSG00000150760	ENST00000280333	T	0.30981	1.51	5.31	5.31	0.75309	.	0.059867	0.64402	D	0.000013	T	0.44477	0.1295	M	0.70842	2.15	0.58432	D	0.999996	B;P;P	0.49447	0.141;0.924;0.621	B;P;B	0.47044	0.097;0.535;0.186	T	0.47674	-0.9099	10	0.72032	D	0.01	.	18.7621	0.91856	0.0:0.0:1.0:0.0	.	1140;1206;1140	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	T	1140	ENSP00000280333:R1140T	ENSP00000280333:R1140T	R	+	2	0	DOCK1	129062084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.525000	0.73795	2.765000	0.95021	0.655000	0.94253	AGA	DOCK1	-	superfamily_ARM-type_fold		0.378	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380		129172094	1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129172094	G	C	129172094	3	2	150	1	0	0	0	0	1	0	0	0	4694	942	33	1	3553	1	DOCK1	10	129172094	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	113610682	129172094	6362653	46	24584										
BRSK2	9024	genome.wustl.edu	37	chr11	1464590	1464590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gaagtatgacggccggaaggCggacgtgtggagctgcggcg	20	8	0	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:1464590C>A	ENST00000528841.1	+	7	974	c.590C>A	c.(589-591)gCg>gAg	p.A197E	BRSK2_ENST00000528710.1_Missense_Mutation_p.A137E|BRSK2_ENST00000308230.5_Missense_Mutation_p.A197E|BRSK2_ENST00000526678.1_Missense_Mutation_p.A197E|BRSK2_ENST00000308219.9_Missense_Mutation_p.A197E|BRSK2_ENST00000382179.1_Missense_Mutation_p.A243E|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000531197.1_Missense_Mutation_p.A197E			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCCGGAAGGCGGACGTGTGG	0.711																																																	0													28	36	34					11																	1464590		2049	4179	6228	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.590C>A	11.37:g.1464590C>A	ENSP00000432000:p.Ala197Glu		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.A243E	ENST00000528841.1	37	c.728	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	c	22.0	4.231415	0.79688	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	3.55	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.60805	0.2297	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.989;1.0;1.0	D;D;D;D;D	0.91635	0.951;0.949;0.951;0.999;0.999	T	0.74856	-0.3522	10	0.87932	D	0	.	15.3641	0.74507	0.0:1.0:0.0:0.0	.	197;243;197;197;197	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	E	197;197;197;197;197;137;243	ENSP00000310697:A197E;ENSP00000431152:A197E;ENSP00000310805:A197E;ENSP00000432000:A197E;ENSP00000433370:A197E;ENSP00000433235:A137E;ENSP00000371614:A243E	ENSP00000310697:A197E	A	+	2	0	BRSK2	1421166	1.000000	0.71417	0.994000	0.49952	0.508000	0.34012	5.135000	0.64777	1.858000	0.53909	0.299000	0.19835	GCG	BRSK2	-	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		0.711	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	C	NM_003957		1464590	1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1464590	C	A	1464590	3	1	150	1	0	0	0	0	1	0	0	0	1527	768	27	2	616	2	BRSK2	11	1464590	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		1464590	133541926	47	24585										
USH1C	10083	genome.wustl.edu	37	chr11	17517199	17517199	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tcggaccggttgggggctttCagctacggaggagggaagag	19	7	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:17517199C>T	ENST00000318024.4	-	20	1755				USH1C_ENST00000005226.7_Missense_Mutation_p.E858K|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.E858*(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGGGGCTTTCAGCTACGGAG	0.577																																																	1	Substitution - Nonsense(1)	lung(1)											87	97	94					11																	17517199		2200	4293	6493	SO:0001627	intron_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1646+1105G>A	11.37:g.17517199C>T			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E858K	ENST00000318024.4	37	c.2572	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150318	0.37923	.	.	ENSG00000006611	ENST00000005226	T	0.23552	1.9	5.47	0.791	0.18619	.	0.390291	0.22299	N	0.061883	T	0.16642	0.0400	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.17868	-1.0355	9	0.62326	D	0.03	.	6.4491	0.21894	0.134:0.615:0.0:0.251	.	858	Q7RTU8	.	K	858	ENSP00000005226:E858K	ENSP00000005226:E858K	E	-	1	0	USH1C	17473775	0.058000	0.20735	0.882000	0.34594	0.725000	0.41563	-0.146000	0.10250	0.252000	0.21531	0.650000	0.86243	GAA	USH1C	-	NULL		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	C	NM_005709		17517199	-1	no_errors	ENST00000005226	ensembl	human	known	70_37	missense	SNP	0.096	T	T	17517199	C	T	17517199	1	4	150	0	1	0	0	0	0	0	0	0	17065	835	29	1		1	USH1C	11	17517199	Intron	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	16052609	17517199	117489317	48	24586										
SLC17A6	57084	genome.wustl.edu	37	chr11	22363242	22363242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctgggcttctgcatctccttCggtatccgctgcaacctggg	11	14	2	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:22363242C>T	ENST00000263160.3	+	2	692	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	85					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCATCTCCTTCGGTATCCGCT	0.637																																																	0													72	59	64					11																	22363242		2203	4300	6503	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.255C>T	11.37:g.22363242C>T			A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F85	ENST00000263160.3	37	c.255	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.637	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	C	NM_020346		22363242	1	no_errors	ENST00000263160	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22363242	C	T	22363242	2	4	150	1	0	0	0	0	0	0	0	1	14451	883	31	1		1	SLC17A6	11	22363242	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	4846043	22363242	112643274	49	24587										
MAPK8IP1	9479	genome.wustl.edu	37	chr11	45924612	45924612	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cggccatcggagaggaatatGaggaggccccgcggccccag	16	13	0	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:45924612G>A	ENST00000241014.2	+	5	1464	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E422K|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	432	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGGAATATGAGGAGGCCCC	0.592																																																	0													32	34	33					11																	45924612		2203	4299	6502	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1294G>A	11.37:g.45924612G>A	ENSP00000241014:p.Glu432Lys		D3DQP4|O43407	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.E432K	ENST00000241014.2	37	c.1294	CCDS7916.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975703	0.74360	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.20738	2.05;2.05	4.98	4.98	0.66077	Src homology-3 domain (1);	0.104963	0.64402	D	0.000007	T	0.36082	0.0954	M	0.62723	1.935	0.54753	D	0.999984	P	0.43352	0.804	P	0.49752	0.621	T	0.04373	-1.0956	10	0.45353	T	0.12	-26.6512	18.442	0.90670	0.0:0.0:1.0:0.0	.	432	Q9UQF2	JIP1_HUMAN	K	432;422	ENSP00000241014:E432K;ENSP00000378991:E422K	ENSP00000241014:E432K	E	+	1	0	MAPK8IP1	45881188	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.138000	0.77305	2.598000	0.87819	0.561000	0.74099	GAG	MAPK8IP1	-	superfamily_SH3_domain		0.592	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP1	HGNC	protein_coding	OTTHUMT00000259405.1	G	NM_005456		45924612	1	no_errors	ENST00000241014	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45924612	G	A	45924612	3	1	150	1	0	0	0	0	1	0	0	0	9307	1291	45	1	1312	1	MAPK8IP1	11	45924612	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	23561370	45924612	89081904	50	24588										
BUD13	84811	genome.wustl.edu	37	chr11	116633493	116633493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cattaggagccaaatcagggGagtcatgacgggcccttctg	13	10	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:116633493G>A	ENST00000260210.4	-	4	835	c.812C>T	c.(811-813)tCc>tTc	p.S271F	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	271					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CAAATCAGGGGAGTCATGACG	0.512																																																	0													133	143	139					11																	116633493		2201	4296	6497	SO:0001583	missense	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.812C>T	11.37:g.116633493G>A	ENSP00000260210:p.Ser271Phe		A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.S271F	ENST00000260210.4	37	c.812	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164145	0.38217	.	.	ENSG00000137656	ENST00000260210	T	0.20463	2.07	5.08	3.2	0.36748	.	0.064900	0.64402	D	0.000007	T	0.45115	0.1326	M	0.83953	2.67	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.70935	0.971;0.923	T	0.43523	-0.9386	10	0.87932	D	0	-1.7037	9.5006	0.39015	0.0787:0.1437:0.7775:0.0	.	271;271	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	F	271	ENSP00000260210:S271F	ENSP00000260210:S271F	S	-	2	0	BUD13	116138703	0.991000	0.36638	0.306000	0.25113	0.270000	0.26580	2.847000	0.48270	0.715000	0.32103	-0.176000	0.13171	TCC	BUD13	-	NULL		0.512	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	G	NM_032725		116633493	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	missense	SNP	0.973	A	A	116633493	G	A	116633493	3	1	150	1	0	0	0	0	1	0	0	0	1576	1174	41	1	1075	1	BUD13	11	116633493	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	70708881	116633493	18373023	51	24589										
VSIG2	23584	genome.wustl.edu	37	chr11	124618303	124618303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	caccgaaggtcactacccccAtatgtctccttgggcttctt	7	15	3	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:124618303A>G	ENST00000326621.5	-	6	934	c.834T>C	c.(832-834)taT>taC	p.Y278Y	VSIG2_ENST00000403470.1_Silent_p.Y278Y|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	278						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CACTACCCCCATATGTCTCCT	0.597																																																	0													120	106	111					11																	124618303		2201	4299	6500	SO:0001819	synonymous_variant	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.834T>C	11.37:g.124618303A>G			O95791|Q9NX42	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y278	ENST00000326621.5	37	c.834	CCDS8452.1	11																																																																																			VSIG2	-	NULL		0.597	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG2	HGNC	protein_coding	OTTHUMT00000317785.1	A	NM_014312		124618303	-1	no_errors	ENST00000326621	ensembl	human	known	70_37	silent	SNP	0.982	G	G	124618303	A	G	124618303	2	3	150	1	0	0	0	0	0	0	0	1	17255	224	8	5		5	VSIG2	11	124618303	Silent	SNP	A	TCGA-IR-A3LF-01A-21D-A22X-09	7984810	124618303	10388213	52	24590										
FOXJ2	55810	genome.wustl.edu	37	chr12	8192501	8192501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tgaccctccgagctaccattGagaagcttggaagtgcctcc	10	13	0	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:8192501G>A	ENST00000162391.3	+	2	1218	c.73G>A	c.(73-75)Gag>Aag	p.E25K	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E25K	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	25					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AGCTACCATTGAGAAGCTTGG	0.582																																																	0													77	79	78					12																	8192501		2203	4300	6503	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.73G>A	12.37:g.8192501G>A	ENSP00000162391:p.Glu25Lys		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E25K	ENST00000162391.3	37	c.73	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	g	22.9	4.350918	0.82132	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94793	-3.34;-3.52	5.05	4.09	0.47781	.	0.088837	0.47852	D	0.000217	T	0.82235	0.4993	N	0.03608	-0.345	0.33977	D	0.647534	B;B	0.20988	0.012;0.05	B;B	0.17722	0.01;0.019	T	0.78753	-0.2081	10	0.13853	T	0.58	.	6.3842	0.21552	0.0971:0.1874:0.7156:0.0	.	25;25	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	K	25	ENSP00000162391:E25K;ENSP00000403411:E25K	ENSP00000162391:E25K	E	+	1	0	FOXJ2	8083768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.908000	0.56355	2.363000	0.80096	0.555000	0.69702	GAG	FOXJ2	-	NULL		0.582	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	G	NM_018416		8192501	1	no_errors	ENST00000162391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8192501	G	A	8192501	3	1	150	1	0	0	0	0	1	0	0	0	6030	1291	45	1	75	1	FOXJ2	12	8192501	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		8192501	125659394	53	24591										
KLRC1	3821	genome.wustl.edu	37	chr12	10603153	10603153	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	attcccaggatcccaacaatGagcttctctggagctgatgg	10	11	1	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:10603153G>T	ENST00000359151.3	-	3	394	c.213C>A	c.(211-213)ctC>ctA	p.L71L	KLRC1_ENST00000544822.1_Silent_p.L71L|KLRC1_ENST00000347831.5_Silent_p.L71L|KLRC1_ENST00000536188.1_Silent_p.L71L|KLRC1_ENST00000408006.3_Silent_p.L71L	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	71					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TCCCAACAATGAGCTTCTCTG	0.428																																																	0													105	103	104					12																	10603153		2203	4300	6503	SO:0001819	synonymous_variant	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.213C>A	12.37:g.10603153G>T				Silent	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L71	ENST00000359151.3	37	c.213	CCDS8625.1	12																																																																																			KLRC1	-	pfam_Herpes_UL45-like		0.428	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	G	NM_002259		10603153	-1	no_errors	ENST00000359151	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10603153	G	T	10603153	2	4	150	1	0	0	0	0	0	0	0	1	8435	1277	45	3		3	KLRC1	12	10603153	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	2410652	10603153	123248742	54	24592										
NAV3	89795	genome.wustl.edu	37	chr12	78444771	78444771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gtataccacgcctctccgtcGagctgctgtctctaggctgg	11	14	2	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:78444771G>A	ENST00000397909.2	+	11	2533	c.2360G>A	c.(2359-2361)cGa>cAa	p.R787Q	NAV3_ENST00000536525.2_Missense_Mutation_p.R787Q|NAV3_ENST00000228327.6_Missense_Mutation_p.R787Q|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.R787Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	787						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTCTCCGTCGAGCTGCTGTC	0.542										HNSCC(70;0.22)																																							0													61	62	62					12																	78444771		2090	4211	6301	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2360G>A	12.37:g.78444771G>A	ENSP00000381007:p.Arg787Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R787Q	ENST00000397909.2	37	c.2360		12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323202	0.81580	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.31769	1.6;1.6;1.6;1.48	5.79	5.79	0.91817	.	0.000000	0.32987	U	0.005416	T	0.49745	0.1575	L	0.53249	1.67	0.80722	D	1	D;D;P	0.76494	0.999;0.992;0.669	P;P;B	0.59595	0.86;0.462;0.053	T	0.35051	-0.9804	10	0.48119	T	0.1	-12.5609	20.031	0.97536	0.0:0.0:1.0:0.0	.	787;787;787	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	Q	787	ENSP00000446132:R787Q;ENSP00000381007:R787Q;ENSP00000228327:R787Q;ENSP00000266692:R787Q	ENSP00000228327:R787Q	R	+	2	0	NAV3	76968902	0.995000	0.38212	0.997000	0.53966	0.293000	0.27360	5.149000	0.64863	2.735000	0.93741	0.655000	0.94253	CGA	NAV3	-	NULL		0.542	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444771	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	0.991	A	A	78444771	G	A	78444771	3	1	150	1	0	0	0	0	1	0	0	0	10208	1058	37	1	2402	1	NAV3	12	78444771	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	67841618	78444771	55407124	55	24593										
C12orf50	160419	genome.wustl.edu	37	chr12	88381726	88381726	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	agttagggaatgctttggatGaggactgtccttgttatctt	12	5	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:88381726G>A	ENST00000298699.2	-	9	898	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	240										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCTTTGGATGAGGACTGTCC	0.333																																																	0													150	132	138					12																	88381726		2203	4300	6503	SO:0001583	missense	160419			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.718C>T	12.37:g.88381726G>A	ENSP00000298699:p.His240Tyr		Q6P674	Missense_Mutation	SNP	NULL	p.H240Y	ENST00000298699.2	37	c.718	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518429	0.64634	.	.	ENSG00000165805	ENST00000298699	T	0.32515	1.45	5.76	5.76	0.90799	.	0.090442	0.49305	D	0.000156	T	0.40909	0.1136	M	0.68317	2.08	0.80722	D	1	P	0.40731	0.728	B	0.44044	0.439	T	0.32134	-0.9918	10	0.72032	D	0.01	.	15.4619	0.75363	0.0:0.0:1.0:0.0	.	240	Q8NA57	CL050_HUMAN	Y	240	ENSP00000298699:H240Y	ENSP00000298699:H240Y	H	-	1	0	C12orf50	86905857	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.489000	0.60309	2.722000	0.93159	0.650000	0.86243	CAT	C12orf50	-	NULL		0.333	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	G	NM_152589		88381726	-1	no_errors	ENST00000298699	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88381726	G	A	88381726	3	1	150	1	0	0	0	0	1	0	0	0	1699	1290	45	1	546	1	C12orf50	12	88381726	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	9936955	88381726	45470169	56	24594										
HCFC2	29915	genome.wustl.edu	37	chr12	104474574	104474574	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aagggacagtgccacttccaCgaagccttcatacagccagt	9	13	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:104474574C>T	ENST00000229330.4	+	5	837	c.733C>T	c.(733-735)Cga>Tga	p.R245*		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	245					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCCACTTCCACGAAGCCTTCA	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													110	109	109					12																	104474574		2202	4300	6502	SO:0001587	stop_gained	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.733C>T	12.37:g.104474574C>T	ENSP00000229330:p.Arg245*		B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R245*	ENST00000229330.4	37	c.733	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.496734	0.97616	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.75	4.83	0.62350	.	0.123045	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8529	13.8583	0.63542	0.2745:0.7255:0.0:0.0	.	.	.	.	X	245	.	ENSP00000229330:R245X	R	+	1	2	HCFC2	102998704	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.391000	0.34475	2.725000	0.93324	0.655000	0.94253	CGA	HCFC2	-	pfam_Kelch_1		0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	C	NM_013320		104474574	1	no_errors	ENST00000229330	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	104474574	C	T	104474574	4	4	150	1	0	0	0	0	0	1	0	0	7013	528	19	2	751	2	HCFC2	12	104474574	Nonsense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	16092848	104474574	29377321	57	24595										
CCDC122	160857	genome.wustl.edu	37	chr13	44411505	44411505	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ccactgtcgtctatttgactGaagcttgttcacctgacaat	7	11	2	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr13:44411505G>T	ENST00000444614.3	-	7	991	c.733C>A	c.(733-735)Cag>Aag	p.Q245K		NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	245										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CTATTTGACTGAAGCTTGTTC	0.393																																																	0													148	132	137					13																	44411505		1897	4118	6015	SO:0001583	missense	160857			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.733C>A	13.37:g.44411505G>T	ENSP00000407763:p.Gln245Lys		B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	NULL	p.Q245K	ENST00000444614.3	37	c.733	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313697	0.40996	.	.	ENSG00000151773	ENST00000444614	T	0.33216	1.42	5.76	4.87	0.63330	.	.	.	.	.	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	B	0.16802	0.019	B	0.18263	0.021	T	0.02852	-1.1102	9	0.34782	T	0.22	.	12.6943	0.56994	0.0:0.0:0.8355:0.1645	.	245	Q5T0U0	CC122_HUMAN	K	245	ENSP00000407763:Q245K	ENSP00000407763:Q245K	Q	-	1	0	CCDC122	43309505	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	4.778000	0.62368	2.724000	0.93272	0.585000	0.79938	CAG	CCDC122	-	NULL		0.393	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	HGNC	protein_coding	OTTHUMT00000276172.4	G	NM_144974		44411505	-1	no_errors	ENST00000444614	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	44411505	G	T	44411505	3	4	150	1	0	0	0	0	1	0	0	0	2763	1299	45	3	92	3	CCDC122	13	44411505	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		44411505	70758373	58	24596										
C14orf28	122525	genome.wustl.edu	37	chr14	45372445	45372445	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tccacatggaaacttgataaGactggctgtgaatgagttat	10	6	0	4	rs541143720		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr14:45372445G>C	ENST00000325192.3	+	3	835	c.560G>C	c.(559-561)aGa>aCa	p.R187T	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Intron	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	187										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AACTTGATAAGACTGGCTGTG	0.308																																																	0													143	154	150					14																	45372445		2203	4299	6502	SO:0001583	missense	122525			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.560G>C	14.37:g.45372445G>C	ENSP00000326846:p.Arg187Thr			Missense_Mutation	SNP	NULL	p.R187T	ENST00000325192.3	37	c.560	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471488	0.26423	.	.	ENSG00000179476	ENST00000325192	T	0.30448	1.53	5.68	5.68	0.88126	.	0.073354	0.56097	D	0.000028	T	0.17619	0.0423	N	0.08118	0	0.80722	D	1	B	0.19935	0.04	B	0.22152	0.038	T	0.05321	-1.0892	10	0.66056	D	0.02	.	10.6766	0.45789	0.0862:0.0:0.9138:0.0	.	187	Q4W4Y0	CN028_HUMAN	T	187	ENSP00000326846:R187T	ENSP00000326846:R187T	R	+	2	0	C14orf28	44442195	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.361000	0.66092	2.685000	0.91497	0.650000	0.86243	AGA	C14orf28	-	NULL		0.308	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	G	NM_001017923		45372445	1	no_errors	ENST00000325192	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45372445	G	C	45372445	3	2	150	1	0	0	0	0	1	0	0	0	1774	942	33	1	566	1	C14orf28	14	45372445	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		45372445	61977095	59	24597										
MDGA2	161357	genome.wustl.edu	37	chr14	47504461	47504461	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tctattgtgtctccttctctGgtgaccaatggtgatttttc	8	9	3	2	rs145338495		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr14:47504461G>C	ENST00000399232.2	-	8	1729	c.1365C>G	c.(1363-1365)acC>acG	p.T455T	MDGA2_ENST00000357362.3_Silent_p.T226T|MDGA2_ENST00000426342.1_Silent_p.T226T|MDGA2_ENST00000439988.3_Silent_p.T524T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	455	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTCCTTCTCTGGTGACCAATG	0.393																																																	0													177	149	158					14																	47504461		1883	4113	5996	SO:0001819	synonymous_variant	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1365C>G	14.37:g.47504461G>C			F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q218E	ENST00000399232.2	37	c.652		14	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717737	0.48622	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.69548	0.3123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67550	-0.5642	4	.	.	.	.	13.8407	0.63437	0.0:0.0:0.8466:0.1534	.	.	.	.	E	230	.	.	Q	-	1	0	MDGA2	46574211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.247000	0.43151	2.608000	0.88229	0.491000	0.48974	CAG	MDGA2	-	NULL		0.393	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47504461	-1	no_errors	ENST00000557238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47504461	G	C	47504461	2	2	150	1	0	0	0	0	0	0	0	1	9430	1335	47	4		4	MDGA2	14	47504461	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	2132016	47504461	59845079	60	24598										
FCF1	51077	genome.wustl.edu	37	chr14	75182714	75182714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cagctgggcccaccttaccaCatcctcgttgataccaactt	6	16	0	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr14:75182714C>T	ENST00000341162.4	+	4	258	c.204C>T	c.(202-204)caC>caT	p.H68H	AREL1_ENST00000557401.1_5'Flank|FCF1_ENST00000534938.2_Silent_p.H56H|AREL1_ENST00000356357.4_5'Flank|AC007956.1_ENST00000338772.5_5'Flank|FCF1_ENST00000553615.1_Silent_p.H53H	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	68	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CACCTTACCACATCCTCGTTG	0.388																																																	0													130	126	128					14																	75182714		2203	4300	6503	SO:0001819	synonymous_variant	51077			AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 111", "FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.204C>T	14.37:g.75182714C>T			Q86TW8|Q8TBL8	Missense_Mutation	SNP	NULL	p.T54I	ENST00000341162.4	37	c.161	CCDS9832.1	14																																																																																			FCF1	-	NULL		0.388	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCF1	HGNC	protein_coding	OTTHUMT00000413622.1	C	NM_015962		75182714	1	no_errors	ENST00000556814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75182714	C	T	75182714	2	4	150	1	0	0	0	0	0	0	0	1	5795	477	17	4		4	FCF1	14	75182714	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	27678253	75182714	32166826	61	24599										
RYR3	6263	genome.wustl.edu	37	chr15	34113779	34113779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctggggatcgccattctgaaCggaggcaatgctggtgtgca	15	9	1	1	rs371629185		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:34113779C>T	ENST00000389232.4	+	80	11041	c.10971C>T	c.(10969-10971)aaC>aaT	p.N3657N	RYR3_ENST00000415757.3_Silent_p.N3652N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3657					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATTCTGAACGGAGGCAATG	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		18027	0		0	False		,,,				2504	0																0								C		0,4202		0,0,2101	92	96	94		10971	-1.7	1	15		94	2,8464		0,2,4231	no	coding-synonymous	RYR3	NM_001036.3		0,2,6332	TT,TC,CC		0.0236,0.0,0.0158		3657/4871	34113779	2,12666	2101	4233	6334	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10971C>T	15.37:g.34113779C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.N3657	ENST00000389232.4	37	c.10971	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34113779	1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	0.995	T	T	34113779	C	T	34113779	2	4	150	1	0	0	0	0	0	0	0	1	13800	535	19	2		2	RYR3	15	34113779	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		34113779	68417613	62	24600										
ITPKA	3706	genome.wustl.edu	37	chr15	41786582	41786582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	agagccggagccgcggcaacGtgcagctggaagcgggcgag	19	11	0	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:41786582G>T	ENST00000260386.5	+	1	510	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	153					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCGCGGCAACGTGCAGCTGGA	0.736																																																	0													3	3	3					15																	41786582		1854	3681	5535	SO:0001583	missense	3706			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.457G>T	15.37:g.41786582G>T	ENSP00000260386:p.Val153Leu		Q8TAN3	Missense_Mutation	SNP	pfam_IPK	p.V153L	ENST00000260386.5	37	c.457	CCDS10076.1	15	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410103	0.42715	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T	0.45276	0.9	2.98	2.98	0.34508	.	0.000000	0.64402	D	0.000004	T	0.34803	0.0910	L	0.50333	1.59	0.40179	D	0.977261	P	0.47302	0.893	B	0.42625	0.393	T	0.29181	-1.0020	10	0.07030	T	0.85	-1.2432	14.423	0.67196	0.0:0.0:1.0:0.0	.	153	P23677	IP3KA_HUMAN	L	48;153	ENSP00000260386:V153L	ENSP00000260386:V153L	V	+	1	0	ITPKA	39573874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.176000	0.50863	1.669000	0.50854	0.455000	0.32223	GTG	ITPKA	-	NULL		0.736	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	G	NM_002220		41786582	1	no_errors	ENST00000260386	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41786582	G	T	41786582	3	4	150	1	0	0	0	0	1	0	0	0	7937	1145	40	2	459	2	ITPKA	15	41786582	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	7672803	41786582	60744810	63	24601										
TP53BP1	7158	genome.wustl.edu	37	chr15	43738643	43738643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gtctcaggactaaccagtttCattcttagacataatttatc	5	9	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:43738643C>T	ENST00000263801.3	-	14	3219	c.2967G>A	c.(2965-2967)atG>atA	p.M989I	TP53BP1_ENST00000450115.2_Missense_Mutation_p.M994I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.M994I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.M994I|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	989					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TAACCAGTTTCATTCTTAGAC	0.443								Other conserved DNA damage response genes																																									0													102	100	101					15																	43738643		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2967G>A	15.37:g.43738643C>T	ENSP00000263801:p.Met989Ile		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M994I	ENST00000263801.3	37	c.2982	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623273	0.87460	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.23950	2.34;2.33;2.15;2.35;1.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.76002	2.32	0.53688	D	0.999977	P;P;D;D	0.53745	0.949;0.936;0.962;0.962	D;P;D;D	0.66716	0.914;0.885;0.946;0.946	T	0.41627	-0.9498	10	0.34782	T	0.22	-14.3082	18.2875	0.90119	0.0:1.0:0.0:0.0	.	994;989;994;994	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	989;994;994;994;954	ENSP00000263801:M989I;ENSP00000371475:M994I;ENSP00000371470:M994I;ENSP00000393497:M994I;ENSP00000388028:M954I	ENSP00000263801:M989I	M	-	3	0	TP53BP1	41525935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.015000	0.64035	2.627000	0.88993	0.655000	0.94253	ATG	TP53BP1	-	NULL		0.443	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43738643	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43738643	C	T	43738643	3	4	150	1	0	0	0	0	1	0	0	0	16414	826	29	1	3011	1	TP53BP1	15	43738643	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	1952061	43738643	58792749	64	24602										
CHD2	1106	genome.wustl.edu	37	chr15	93515518	93515518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctcataaggagcagtgggaaGttgattttattagacaaact	10	5	1	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:93515518G>A	ENST00000394196.4	+	19	3444	c.2376G>A	c.(2374-2376)aaG>aaA	p.K792K	CHD2_ENST00000557381.1_Silent_p.K792K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	792					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGTGGGAAGTTGATTTTAT	0.363																																																	0													91	88	89					15																	93515518		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2376G>A	15.37:g.93515518G>A			C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K792	ENST00000394196.4	37	c.2376	CCDS10374.2	15																																																																																			CHD2	-	NULL		0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	G	NM_001271		93515518	1	no_errors	ENST00000557381	ensembl	human	putative	70_37	silent	SNP	1.000	A	A	93515518	G	A	93515518	2	1	150	1	0	0	0	0	0	0	0	1	3330	1020	36	4		4	CHD2	15	93515518	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	49776875	93515518	9015874	65	24603										
TARSL2	123283	genome.wustl.edu	37	chr15	102211717	102211717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tgtgagattaaatctaatagGcagttggaagtccagctgaa	11	5	1	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:102211717G>T	ENST00000335968.3	-	15	2155	c.1939C>A	c.(1939-1941)Cct>Act	p.P647T		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	647					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTAATAGGCAGTTGGAAG	0.303																																																	0													129	126	127					15																	102211717		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1939C>A	15.37:g.102211717G>T	ENSP00000338093:p.Pro647Thr		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.P647T	ENST00000335968.3	37	c.1939	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188501	0.78789	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.25	5.25	0.73442	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	H	0.96889	3.9	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.66847	0.87;0.947	D	0.91610	0.5302	9	0.87932	D	0	-12.8827	16.3435	0.83110	0.0:0.0:1.0:0.0	.	647;552	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	T	647;552;647	.	ENSP00000329291:P552T	P	-	1	0	TARSL2	100029240	1.000000	0.71417	0.823000	0.32752	0.991000	0.79684	7.504000	0.81646	2.460000	0.83146	0.591000	0.81541	CCT	TARSL2	-	pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa		0.303	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	G	NM_152334		102211717	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102211717	G	T	102211717	3	4	150	1	0	0	0	0	1	0	0	0	15591	1203	42	4	489	4	TARSL2	15	102211717	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	8696199	102211717	319675	66	24604										
ITGAX	3687	genome.wustl.edu	37	chr16	31368669	31368669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	acccagctcacccagaggctCccggtgtccaggcagggtga	13	15	1	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr16:31368669C>T	ENST00000268296.4	+	5	535	c.414C>T	c.(412-414)ctC>ctT	p.L138L	ITGAX_ENST00000562522.1_Silent_p.L138L|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	138					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCAGAGGCTCCCGGTGTCCA	0.657																																																	0													19	17	18					16																	31368669		2197	4296	6493	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.414C>T	16.37:g.31368669C>T			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L138	ENST00000268296.4	37	c.414	CCDS10711.1	16																																																																																			ITGAX	-	NULL		0.657	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31368669	1	no_errors	ENST00000268296	ensembl	human	known	70_37	silent	SNP	0.034	T	T	31368669	C	T	31368669	2	4	150	1	0	0	0	0	0	0	0	1	7909	842	30	1		1	ITGAX	16	31368669	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		31368669	58986084	67	24605										
JPH3	57338	genome.wustl.edu	37	chr16	87678345	87678345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gccaccaccaccgagacctaCgtgggcgagtggaagaacga	13	13	0	2	rs565470642		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr16:87678345C>T	ENST00000284262.2	+	2	1106	c.864C>T	c.(862-864)taC>taT	p.Y288Y		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	288					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCGAGACCTACGTGGGCGAGT	0.677																																																	0													89	85	86					16																	87678345		2198	4300	6498	SO:0001819	synonymous_variant	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.864C>T	16.37:g.87678345C>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.Y288	ENST00000284262.2	37	c.864	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin,pfam_MORN,smart_MORN		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	C			87678345	1	no_errors	ENST00000284262	ensembl	human	known	70_37	silent	SNP	1.000	T	T	87678345	C	T	87678345	2	4	150	1	0	0	0	0	0	0	0	1	7982	547	19	2		2	JPH3	16	87678345	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	56309676	87678345	2676408	68	24606										
USP6	9098	genome.wustl.edu	37	chr17	5045313	5045313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tccagttcccacagaaaaggGagccacaggtctaagcaacc	9	13	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:5045313G>T	ENST00000574788.1	+	24	3819	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	USP6_ENST00000332776.4_Missense_Mutation_p.G530V|USP6_ENST00000304328.5_Missense_Mutation_p.G213V|USP6_ENST00000250066.6_Missense_Mutation_p.G530V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	530					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGAAAAGGGAGCCACAGGT	0.413			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													139	135	136					17																	5045313		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1589G>T	17.37:g.5045313G>T	ENSP00000460380:p.Gly530Val		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.G530V	ENST00000574788.1	37	c.1589	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604904	0.46423	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.34472	1.36;3.9;3.9	2.36	2.36	0.29203	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.93594	3.435	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.73708	0.893;0.981	T	0.72836	-0.4172	10	0.72032	D	0.01	.	10.4264	0.44380	0.0:0.0:1.0:0.0	.	213;530	P35125-2;P35125	.;UBP6_HUMAN	V	530;530;213	ENSP00000328010:G530V;ENSP00000250066:G530V;ENSP00000305473:G213V	ENSP00000250066:G530V	G	+	2	0	USP6	4986037	1.000000	0.71417	0.998000	0.56505	0.397000	0.30659	9.511000	0.98006	1.318000	0.45170	0.194000	0.17425	GGA	USP6	-	pfam_Peptidase_C19		0.413	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5045313	1	no_errors	ENST00000250066	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5045313	G	T	5045313	3	4	150	1	0	0	0	0	1	0	0	0	17117	1174	41	3	1647	3	USP6	17	5045313	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		5045313	76149897	69	24607										
ALDH3A2	224	genome.wustl.edu	37	chr17	19566669	19566669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	caacagtacttaccgatgttGatcctaaaaccaaggtgatg	8	9	0	2			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:19566669G>C	ENST00000176643.6	+	7	1410	c.964G>C	c.(964-966)Gat>Cat	p.D322H	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.D322H|ALDH3A2_ENST00000571163.1_5'Flank|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.D322H|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.D322H|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.D322H|SNORA31_ENST00000516540.1_RNA			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	322					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TACCGATGTTGATCCTAAAAC	0.333																																																	0													115	114	115					17																	19566669		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.964G>C	17.37:g.19566669G>C	ENSP00000176643:p.Asp322His		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.D322H	ENST00000176643.6	37	c.964	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749302	0.15710	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.85171	-1.95;-1.95;-1.95	5.12	1.24	0.21308	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.390992	0.28958	N	0.013591	D	0.85031	0.5604	L	0.53617	1.68	0.09310	N	1	P;P	0.40250	0.691;0.709	P;B	0.55222	0.771;0.367	T	0.74074	-0.3782	10	0.45353	T	0.12	-13.1727	3.419	0.07386	0.4594:0.0:0.3474:0.1932	.	322;322	P51648;P51648-2	AL3A2_HUMAN;.	H	322	ENSP00000176643:D322H;ENSP00000378942:D322H;ENSP00000345774:D322H	ENSP00000176643:D322H	D	+	1	0	ALDH3A2	19507261	0.000000	0.05858	0.124000	0.21820	0.988000	0.76386	-0.031000	0.12287	0.436000	0.26393	0.557000	0.71058	GAT	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.333	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	G			19566669	1	no_errors	ENST00000339618	ensembl	human	known	70_37	missense	SNP	0.002	C	C	19566669	G	C	19566669	3	2	150	1	0	0	0	0	1	0	0	0	498	1290	45	1	990	1	ALDH3A2	17	19566669	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	14521356	19566669	61628541	70	24608										
ERBB2	2064	genome.wustl.edu	37	chr17	37879603	37879603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ccatcatctctgcggtggttGgcattctgctggtcgtggtc	13	11	3	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:37879603G>C	ENST00000269571.5	+	17	2137	c.1978G>C	c.(1978-1980)Ggc>Cgc	p.G660R	ERBB2_ENST00000445658.2_Missense_Mutation_p.G384R|ERBB2_ENST00000584601.1_Missense_Mutation_p.G630R|ERBB2_ENST00000406381.2_Missense_Mutation_p.G630R|ERBB2_ENST00000541774.1_Missense_Mutation_p.G645R|ERBB2_ENST00000540147.1_Missense_Mutation_p.G630R|ERBB2_ENST00000584450.1_Missense_Mutation_p.G660R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	660					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGCGGTGGTTGGCATTCTGCT	0.617		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													124	111	116					17																	37879603		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1978G>C	17.37:g.37879603G>C	ENSP00000269571:p.Gly660Arg		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G660R	ENST00000269571.5	37	c.1978	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524801	0.44969	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.80653	-1.38;-1.39;-1.39;-1.4;-1.38	4.97	4.97	0.65823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	D	0.89458	0.6721	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.987;0.995	D	0.90658	0.4588	9	0.87932	D	0	.	11.3862	0.49787	0.0836:0.0:0.9164:0.0	.	384;645;660	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	630;645;384;660;630	ENSP00000385185:G630R;ENSP00000446466:G645R;ENSP00000404047:G384R;ENSP00000269571:G660R;ENSP00000443562:G630R	ENSP00000269571:G660R	G	+	1	0	ERBB2	35133129	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.547000	0.82146	2.317000	0.78254	0.561000	0.74099	GGC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37879603	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37879603	G	C	37879603	3	2	150	1	0	0	0	0	1	0	0	0	5218	1348	47	4	2044	4	ERBB2	17	37879603	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	18312934	37879603	43315607	71	24609										
ERBB2	2064	genome.wustl.edu	37	chr17	37881425	37881425	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tggctcggctgctggacattGacgagacagagtaccatgca	13	10	0	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:37881425G>A	ENST00000269571.5	+	21	2776	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	ERBB2_ENST00000445658.2_Missense_Mutation_p.D597N|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.D843N|ERBB2_ENST00000406381.2_Missense_Mutation_p.D843N|ERBB2_ENST00000541774.1_Missense_Mutation_p.D858N|ERBB2_ENST00000540147.1_Missense_Mutation_p.D843N|ERBB2_ENST00000584450.1_Missense_Mutation_p.D873N			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTGGACATTGACGAGACAGA	0.577		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													68	69	69					17																	37881425		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2617G>A	17.37:g.37881425G>A	ENSP00000269571:p.Asp873Asn		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D873N	ENST00000269571.5	37	c.2617	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981089	0.53827	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88370	0.6418	L	0.46567	1.45	0.80722	D	1	P;D;P	0.71674	0.733;0.998;0.545	B;D;B	0.69654	0.424;0.965;0.311	D	0.89307	0.3630	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	597;858;873	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	N	843;858;597;873;843	ENSP00000385185:D843N;ENSP00000446466:D858N;ENSP00000404047:D597N;ENSP00000269571:D873N;ENSP00000443562:D843N	ENSP00000269571:D873N	D	+	1	0	ERBB2	35134951	1.000000	0.71417	0.788000	0.31933	0.926000	0.56050	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GAC	ERBB2	-	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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37881425	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.998	A	A	37881425	G	A	37881425	3	1	150	1	0	0	0	0	1	0	0	0	5218	1290	45	1	2699	1	ERBB2	17	37881425	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	1822	37881425	43313785	72	24610										
MPP2	4355	genome.wustl.edu	37	chr17	41958920	41958920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tgcaggggatgaggctgtctCgggccgggtcatagtcaaag	17	8	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:41958920C>T	ENST00000461854.1	-	8	876	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MPP2_ENST00000520305.1_Missense_Mutation_p.R101Q|MPP2_ENST00000377184.3_Missense_Mutation_p.R257Q|MPP2_ENST00000536246.1_Missense_Mutation_p.R229Q|MPP2_ENST00000523501.1_Missense_Mutation_p.R229Q|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.R285Q|MPP2_ENST00000269095.4_Missense_Mutation_p.R240Q			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	264	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GAGGCTGTCTCGGGCCGGGTC	0.587																																																	0													58	54	55					17																	41958920		2203	4300	6503	SO:0001583	missense	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.791G>A	17.37:g.41958920C>T	ENSP00000428286:p.Arg264Gln		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R264Q	ENST00000461854.1	37	c.791		17	.	.	.	.	.	.	.	.	.	.	c	13.33	2.204167	0.38905	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15	5.1	3.12	0.35913	.	.	.	.	.	T	0.04770	0.0129	N	0.11106	0.095	0.09310	N	1	B;B	0.25904	0.067;0.137	B;B	0.20184	0.028;0.016	T	0.41431	-0.9509	9	0.33940	T	0.23	.	9.4741	0.38860	0.0:0.8288:0.0:0.1712	.	285;257	E7EV80;Q14168-3	.;.	Q	257;240;264;101;229;229;285	ENSP00000366389:R257Q;ENSP00000269095:R240Q;ENSP00000428286:R264Q;ENSP00000428136:R101Q;ENSP00000430540:R229Q;ENSP00000438012:R229Q;ENSP00000428182:R285Q	ENSP00000269095:R240Q	R	-	2	0	MPP2	39314446	0.000000	0.05858	0.035000	0.18076	0.995000	0.86356	0.514000	0.22786	0.751000	0.32900	0.555000	0.69702	CGA	MPP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.587	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	C	NM_005374		41958920	-1	no_errors	ENST00000461854	ensembl	human	known	70_37	missense	SNP	0.019	T	T	41958920	C	T	41958920	3	4	150	1	0	0	0	0	1	0	0	0	9757	884	31	1	967	1	MPP2	17	41958920	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	4077495	41958920	39236290	73	24611										
PLCD3	113026	genome.wustl.edu	37	chr17	43196380	43196380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ctcctcgatctcagccccctCtagacggtcgttgttggagt	10	14	2	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:43196380C>T	ENST00000322765.5	-	5	828	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	239	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TCAGCCCCCTCTAGACGGTCG	0.622																																																	0													13	15	15					17																	43196380		1956	4138	6094	SO:0001583	missense	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.715G>A	17.37:g.43196380C>T	ENSP00000313731:p.Glu239Lys		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E239K	ENST00000322765.5	37	c.715		17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209367	0.79240	.	.	ENSG00000161714	ENST00000322765	D	0.82081	-1.57	3.91	3.91	0.45181	EF-hand-like domain (1);	0.055575	0.64402	D	0.000001	D	0.89853	0.6835	.	.	.	0.50171	D	0.999856	D	0.76494	0.999	D	0.80764	0.994	D	0.89834	0.3998	9	0.42905	T	0.14	.	15.218	0.73285	0.0:1.0:0.0:0.0	.	239	Q8N3E9	PLCD3_HUMAN	K	239	ENSP00000313731:E239K	ENSP00000313731:E239K	E	-	1	0	PLCD3	40551906	1.000000	0.71417	0.586000	0.28679	0.400000	0.30750	7.520000	0.81821	2.180000	0.69256	0.462000	0.41574	GAG	PLCD3	-	NULL		0.622	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		C	NM_133373		43196380	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43196380	C	T	43196380	3	4	150	1	0	0	0	0	1	0	0	0	12056	922	32	1	1697	1	PLCD3	17	43196380	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	1237460	43196380	37998830	74	24612										
DLX3	1747	genome.wustl.edu	37	chr17	48072207	48072207	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gtctggccatagggctggccCgagtagtaatcgtgctgggg	17	9	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:48072207C>A	ENST00000434704.2	-	1	381	c.156G>T	c.(154-156)tcG>tcT	p.S52S	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	52					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGGGCTGGCCCGAGTAGTAAT	0.602																																																	0													113	114	114					17																	48072207		2203	4300	6503	SO:0001819	synonymous_variant	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.156G>T	17.37:g.48072207C>A			B3KQL6	Silent	SNP	pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S52	ENST00000434704.2	37	c.156	CCDS11556.1	17																																																																																			DLX3	-	pfam_Distal-less_N		0.602	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	C			48072207	-1	no_errors	ENST00000434704	ensembl	human	known	70_37	silent	SNP	0.997	A	A	48072207	C	A	48072207	2	1	150	1	0	0	0	0	0	0	0	1	4582	639	23	2		2	DLX3	17	48072207	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	4875827	48072207	33123003	75	24613										
ZNF69	7620	genome.wustl.edu	37	chr19	12014480	12014480	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aggaaactctacaaggaagtGatgctggaaactttcaggaa	11	6	2	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:12014480G>C	ENST00000429654.2	+	2	296	c.156G>C	c.(154-156)gtG>gtC	p.V52V	ZNF69_ENST00000340180.5_Silent_p.V38V			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		ACAAGGAAGTGATGCTGGAAA	0.468																																																	0													150	145	147					19																	12014480		2203	4300	6503	SO:0001819	synonymous_variant	7620			X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"Zinc fingers, C2H2-type", "-"	13138	protein-coding gene	gene with protein product		194543	"zinc finger protein 69 (Cos5)"			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.156G>C	19.37:g.12014480G>C			Q86VA7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V52	ENST00000429654.2	37	c.156		19																																																																																			ZNF69	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	ZNF69	HGNC	protein_coding	OTTHUMT00000344082.1	G	NM_021915		12014480	1	no_errors	ENST00000429654	ensembl	human	known	70_37	silent	SNP	0.992	C	C	12014480	G	C	12014480	2	2	150	1	0	0	0	0	0	0	0	1	18125	1277	45	1		1	ZNF69	19	12014480	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		12014480	47114503	76	24614										
INSL3	3640	genome.wustl.edu	37	chr19	17927708	17927708	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tcttgttgggtacagccactGaggcagcagtagcgtgcagg	15	9	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:17927708G>A	ENST00000317306.7	-	2	367	c.351C>T	c.(349-351)ctC>ctT	p.L117L	INSL3_ENST00000379695.5_Missense_Mutation_p.S149L	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	117					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						TACAGCCACTGAGGCAGCAGT	0.637																																																	0													117	103	108					19																	17927708		2203	4300	6503	SO:0001819	synonymous_variant	3640				CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.351C>T	19.37:g.17927708G>A			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Missense_Mutation	SNP	superfamily_Insulin-like	p.S149L	ENST00000317306.7	37	c.446	CCDS12365.1	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040155	0.35989	.	.	ENSG00000248099	ENST00000379695	T	0.36699	1.24	3.87	1.57	0.23409	.	1950.110000	0.00864	U	0.001949	T	0.25717	0.0626	.	.	.	0.18873	N	0.999983	P	0.34639	0.461	B	0.33339	0.162	T	0.14980	-1.0453	8	.	.	.	.	5.4832	0.16735	0.1186:0.2211:0.6603:0.0	.	149	G3XAG0	.	L	149	ENSP00000369017:S149L	.	S	-	2	0	INSL3	17788708	0.006000	0.16342	0.441000	0.26858	0.122000	0.20287	-0.012000	0.12699	0.286000	0.22352	0.435000	0.28638	TCA	INSL3	-	NULL		0.637	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL3	HGNC	protein_coding	OTTHUMT00000466836.1	G	NM_005543		17927708	-1	no_errors	ENST00000379695	ensembl	human	putative	70_37	missense	SNP	0.512	A	A	17927708	G	A	17927708	2	1	150	1	0	0	0	0	0	0	0	1	7787	1277	45	1		1	INSL3	19	17927708	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	5913228	17927708	41201275	77	24615										
PEPD	5184	genome.wustl.edu	37	chr19	33878885	33878885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ggcctcatccaggaggtggtCgatgaagtagatgcccggct	15	10	1	2	rs559002568		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:33878885C>T	ENST00000244137.7	-	14	1288	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	PEPD_ENST00000397032.4_Missense_Mutation_p.D378N|PEPD_ENST00000436370.3_Missense_Mutation_p.D355N|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	419					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AGGAGGTGGTCGATGAAGTAG	0.692													C|||	1	0.000199681	0	0	5008	,	,		16775	0		0	False		,,,				2504	0.001																0													11	16	15					19																	33878885		1999	4147	6146	SO:0001583	missense	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1255G>A	19.37:g.33878885C>T	ENSP00000244137:p.Asp419Asn		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.D419N	ENST00000244137.7	37	c.1255	CCDS42544.1	19	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547623	0.45383	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.79247	-1.25;-1.25;-1.25	5.46	5.46	0.80206	Peptidase M24, structural domain (3);	0.218309	0.53938	D	0.000043	T	0.71945	0.3400	L	0.56280	1.765	0.80722	D	1	B;B;B;B	0.17852	0.009;0.024;0.004;0.004	B;B;B;B	0.24269	0.014;0.052;0.009;0.009	T	0.66905	-0.5805	10	0.34782	T	0.22	-56.3086	9.7174	0.40283	0.0:0.7789:0.1433:0.0778	.	355;378;419;419	E9PCE8;A8MX47;P12955;A8K3Z1	.;.;PEPD_HUMAN;.	N	419;378;355	ENSP00000244137:D419N;ENSP00000380226:D378N;ENSP00000391890:D355N	ENSP00000244137:D419N	D	-	1	0	PEPD	38570725	0.941000	0.31946	1.000000	0.80357	0.973000	0.67179	1.639000	0.37176	2.561000	0.86390	0.491000	0.48974	GAC	PEPD	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.692	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	C	NM_000285		33878885	-1	no_errors	ENST00000244137	ensembl	human	known	70_37	missense	SNP	0.997	T	T	33878885	C	T	33878885	3	4	150	1	0	0	0	0	1	0	0	0	11752	884	31	1	234	1	PEPD	19	33878885	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	15951177	33878885	25250098	78	24616										
CNTD2	79935	genome.wustl.edu	37	chr19	40732342	40732342	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ccctgcagccccagcgcgctCagcgcctcctccagccccgg	10	23	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:40732342C>G	ENST00000430325.2	-	1	255	c.207G>C	c.(205-207)ctG>ctC	p.L69L	CNTD2_ENST00000433940.1_Silent_p.L69L|CNTD2_ENST00000513948.1_5'Flank	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	69					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CCAGCGCGCTCAGCGCCTCCT	0.731																																																	0													24	18	20					19																	40732342		2163	4241	6404	SO:0001819	synonymous_variant	79935			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.207G>C	19.37:g.40732342C>G			B4DX65	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.L69	ENST00000430325.2	37	c.207	CCDS12551.2	19																																																																																			CNTD2	-	pirsf_Cyclin_A/B/D/E		0.731	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1	C	NM_024877		40732342	-1	no_errors	ENST00000430325	ensembl	human	known	70_37	silent	SNP	0.568	G	G	40732342	C	G	40732342	2	3	150	1	0	0	0	0	0	0	0	1	3641	813	29	1		1	CNTD2	19	40732342	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	6853457	40732342	18396641	79	24617										
LMTK3	114783	genome.wustl.edu	37	chr19	49013842	49013842	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	agaggagcccggcccagggcGaatccatctgtgggcacagg	16	12	1	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:49013842G>A	ENST00000600059.1	-	2	311	c.84C>T	c.(82-84)ttC>ttT	p.F28F	LMTK3_ENST00000270238.3_Silent_p.F57F|CTC-273B12.10_ENST00000598924.1_lincRNA			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	28					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCCCAGGGCGAATCCATCTG	0.637																																																	0													29	41	37					19																	49013842		1998	4169	6167	SO:0001819	synonymous_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.84C>T	19.37:g.49013842G>A			Q4G0U1	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F57	ENST00000600059.1	37	c.171		19																																																																																			LMTK3	-	NULL		0.637	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49013842	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49013842	G	A	49013842	2	1	150	1	0	0	0	0	0	0	0	1	8881	1049	37	1		1	LMTK3	19	49013842	Silent	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	8281500	49013842	10115141	80	24618										
HSD17B14	51171	genome.wustl.edu	37	chr19	49339660	49339660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	ttcccggcatagcgcgttccCgtagccatcccgtgtacgtc	10	16	0	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:49339660C>T	ENST00000263278.4	-	1	275	c.9G>A	c.(7-9)acG>acA	p.T3T	HSD17B14_ENST00000599157.1_Silent_p.T3T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	3					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	55	59					19																	49339660		2203	4300	6503	SO:0001819	synonymous_variant	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.9G>A	19.37:g.49339660C>T		961	Q9UKU3	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.T3	ENST00000263278.4	37	c.9	CCDS12736.1	19																																																																																			HSD17B14	-	NULL		0.647	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1	C	NM_016246		49339660	-1	no_errors	ENST00000263278	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49339660	C	T	49339660	2	4	150	1	0	0	0	0	0	0	0	1	7403	639	23	2		2	HSD17B14	19	49339660	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	325818	49339660	9789323	81	24619										
CGB1	114335	genome.wustl.edu	37	chr19	49538946	49538946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aggagtcctggaagcgggggTcatcacaggtcaaggggtgg	19	7	3	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:49538946T>C	ENST00000301407.7	-	3	493	c.389A>G	c.(388-390)gAc>gGc	p.D130G	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.D130G	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	162						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAAGCGGGGGTCATCACAGGT	0.652																																																	0													19	26	24					19																	49538946		2181	4289	6470	SO:0001583	missense	114335			S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.389A>G	19.37:g.49538946T>C	ENSP00000301407:p.Asp130Gly		A4FVC8|A8MUK6	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.D130G	ENST00000301407.7	37	c.389	CCDS12751.2	19	.	.	.	.	.	.	.	.	.	.	T	3.400	-0.122468	0.06795	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	T;T	0.39592	1.07;1.07	1.69	-3.38	0.04883	.	1.451340	0.04141	N	0.319616	T	0.27098	0.0664	.	.	.	0.09310	N	1	P	0.34462	0.454	B	0.36534	0.227	T	0.07139	-1.0788	9	0.38643	T	0.18	-0.4209	0.0789	0.00029	0.3018:0.2267:0.2341:0.2374	.	130	A6NKQ9-2	.	G	130	ENSP00000301407:D130G;ENSP00000375742:D130G	ENSP00000301407:D130G	D	-	2	0	CGB1	54230758	0.042000	0.20092	0.005000	0.12908	0.104000	0.19210	0.252000	0.18278	-1.181000	0.02730	0.163000	0.16589	GAC	CGB1	-	NULL		0.652	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	CGB1	HGNC	protein_coding	OTTHUMT00000316746.4	T	NM_033377		49538946	-1	no_errors	ENST00000301407	ensembl	human	known	70_37	missense	SNP	0.493	C	C	49538946	T	C	49538946	3	2	150	1	0	0	0	0	1	0	0	0	3302	1667	58	5	82	5	CGB1	19	49538946	Missense_Mutation	SNP	T	TCGA-IR-A3LF-01A-21D-A22X-09	199286	49538946	9590037	82	24620										
RALGAPA2	57186	genome.wustl.edu	37	chr20	20596757	20596757	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	caaaacagctttacaagcatCaacttgttctttcaagagca	5	10	3	1	rs190633497		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr20:20596757C>T	ENST00000202677.7	-	13	1625	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	540					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTACAAGCATCAACTTGTTCT	0.313																																																	0													57	52	54					20																	20596757		1844	4081	5925	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1618G>A	20.37:g.20596757C>T	ENSP00000202677:p.Asp540Asn		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D540N	ENST00000202677.7	37	c.1618	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.365235	0.95877	.	.	ENSG00000188559	ENST00000202677	T	0.74737	-0.87	5.98	5.98	0.97165	.	0.043979	0.85682	D	0.000000	D	0.85243	0.5652	M	0.81802	2.56	0.50813	D	0.999899	D	0.56287	0.975	P	0.55455	0.776	D	0.86058	0.1530	10	0.72032	D	0.01	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	540	Q2PPJ7	RGPA2_HUMAN	N	540	ENSP00000202677:D540N	ENSP00000202677:D540N	D	-	1	0	RALGAPA2	20544757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.838000	0.97847	0.655000	0.94253	GAT	RALGAPA2	-	NULL		0.313	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20596757	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20596757	C	T	20596757	3	4	150	1	0	0	0	0	1	0	0	0	13044	826	29	1	4111	1	RALGAPA2	20	20596757	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		20596757	42428763	83	24621										
NINL	22981	genome.wustl.edu	37	chr20	25477429	25477429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	acgctcccttgccagctgctCcacctgccctctgccacagg	8	20	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr20:25477429C>T	ENST00000278886.6	-	10	1253	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	NINL_ENST00000422516.1_Missense_Mutation_p.E394K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	394					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCCAGCTGCTCCACCTGCCCT	0.617																																																	0													85	73	77					20																	25477429		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1180G>A	20.37:g.25477429C>T	ENSP00000278886:p.Glu394Lys		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E394K	ENST00000278886.6	37	c.1180	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998397	0.74818	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35973	1.51;1.28	5.03	4.09	0.47781	.	0.135829	0.47852	N	0.000210	T	0.53899	0.1825	M	0.62723	1.935	0.36984	D	0.89442	D;P	0.71674	0.998;0.921	D;B	0.68353	0.957;0.352	T	0.63418	-0.6642	10	0.59425	D	0.04	-24.4037	12.2193	0.54425	0.0:0.9167:0.0:0.0833	.	394;394	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	394	ENSP00000278886:E394K;ENSP00000410431:E394K	ENSP00000278886:E394K	E	-	1	0	NINL	25425429	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	3.047000	0.49854	1.336000	0.45506	0.650000	0.86243	GAG	NINL	-	NULL		0.617	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25477429	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25477429	C	T	25477429	3	4	150	1	0	0	0	0	1	0	0	0	10444	864	30	1	3028	1	NINL	20	25477429	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	4880672	25477429	37548091	84	24622										
TTC3	7267	genome.wustl.edu	37	chr21	38523150	38523150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aggtcataaaagaaaaggttCctccaagacctattctgaaa	7	8	2	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr21:38523150C>T	ENST00000399017.2	+	25	4989	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	TTC3_ENST00000540756.1_Missense_Mutation_p.P438S|TTC3_ENST00000354749.2_Missense_Mutation_p.P748S|TTC3_ENST00000355666.1_Missense_Mutation_p.P748S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	748					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGAAAAGGTTCCTCCAAGACC	0.303																																					Ovarian(38;194 1649 35661)												0													59	63	61					21																	38523150		2202	4297	6499	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2242C>T	21.37:g.38523150C>T	ENSP00000381981:p.Pro748Ser		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.P748S	ENST00000399017.2	37	c.2242	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487137	0.63962	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.46451	2.67;0.87;2.67;2.98;0.87;2.98;2.98	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000013	T	0.61324	0.2338	M	0.64997	1.995	0.38043	D	0.93552	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66862	-0.5816	10	0.72032	D	0.01	-12.0992	14.2195	0.65818	0.1501:0.8499:0.0:0.0	.	438;748	B4DSZ9;P53804	.;TTC3_HUMAN	S	748;748;730;748;438;748;748	ENSP00000403943:P748S;ENSP00000408456:P748S;ENSP00000391891:P730S;ENSP00000347889:P748S;ENSP00000442875:P438S;ENSP00000381981:P748S;ENSP00000346791:P748S	ENSP00000346791:P748S	P	+	1	0	TTC3	37445020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.528000	0.53524	2.541000	0.85698	0.561000	0.74099	CCT	TTC3	-	NULL		0.303	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38523150	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38523150	C	T	38523150	3	4	150	1	0	0	0	0	1	0	0	0	16728	855	30	1	2336	1	TTC3	21	38523150	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09		38523150	9606745	85	24623										
BRWD1	54014	genome.wustl.edu	37	chr21	40570860	40570860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	atcttctctatcttgctcttCagattcagagtcttctgagt	6	10	8	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr21:40570860C>T	ENST00000333229.2	-	40	5809	c.5482G>A	c.(5482-5484)Gaa>Aaa	p.E1828K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E1828K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1828K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1828					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTTGCTCTTCAGATTCAGAG	0.388																																					Melanoma(170;988 1986 4794 16843 39731)												0													128	130	129					21																	40570860		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5482G>A	21.37:g.40570860C>T	ENSP00000330753:p.Glu1828Lys		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1828K	ENST00000333229.2	37	c.5482	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706319	0.48412	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.44482	0.92;0.92;0.92	5.37	5.37	0.77165	.	0.630085	0.15377	N	0.265502	T	0.34019	0.0883	N	0.25647	0.755	0.80722	D	1	B;B	0.29531	0.001;0.247	B;B	0.28553	0.002;0.091	T	0.09729	-1.0661	10	0.32370	T	0.25	-3.8573	17.316	0.87224	0.0:1.0:0.0:0.0	.	1828;1828	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1828	ENSP00000330753:E1828K;ENSP00000344333:E1828K;ENSP00000370178:E1828K	ENSP00000330753:E1828K	E	-	1	0	BRWD1	39492730	1.000000	0.71417	0.961000	0.40146	0.721000	0.41392	3.345000	0.52182	2.518000	0.84900	0.655000	0.94253	GAA	BRWD1	-	NULL		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40570860	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.999	T	T	40570860	C	T	40570860	3	4	150	1	0	0	0	0	1	0	0	0	1528	835	29	1	1731	1	BRWD1	21	40570860	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	2047710	40570860	7559035	86	24624										
STS	412	genome.wustl.edu	37	chrX	7252034	7252034	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	gtttatcccacaggatcattGatggacgtgatctgatgccc	10	10	2	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:7252034G>T	ENST00000217961.4	+	9	1484	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	422					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CAGGATCATTGATGGACGTGA	0.483									Ichthyosis																																								0													121	91	101					X																	7252034		2203	4299	6502	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1264G>T	X.37:g.7252034G>T	ENSP00000217961:p.Asp422Tyr		B2RA47	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D422Y	ENST00000217961.4	37	c.1264	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577993	0.65878	.	.	ENSG00000101846	ENST00000217961	D	0.95447	-3.71	3.95	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.99815	4.805	0.50632	D	0.999887	D	0.89917	1.0	D	0.91635	0.999	D	0.98427	1.0580	10	0.87932	D	0	.	12.8957	0.58098	0.0:0.0:1.0:0.0	.	422	P08842	STS_HUMAN	Y	422	ENSP00000217961:D422Y	ENSP00000217961:D422Y	D	+	1	0	STS	7262034	1.000000	0.71417	0.012000	0.15200	0.111000	0.19643	7.637000	0.83313	1.586000	0.49944	0.513000	0.50165	GAT	STS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.483	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	HGNC	protein_coding	OTTHUMT00000055686.1	G	NM_000351		7252034	1	no_errors	ENST00000217961	ensembl	human	known	70_37	missense	SNP	0.998	T	T	7252034	G	T	7252034	3	4	150	1	0	0	0	0	1	0	0	0	15362	1290	45	3	1298	3	STS	23	7252034	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09		7252034	148018526	87	24625										
ZFX	7543	genome.wustl.edu	37	chrX	24225503	24225503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aatgaccatggacacagagtCggaaattgatccttgtaaag	10	7	0	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:24225503C>T	ENST00000379177.1	+	7	1134	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ZFX_ENST00000304543.5_Missense_Mutation_p.S236L|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Missense_Mutation_p.S275L|ZFX_ENST00000379188.3_Missense_Mutation_p.S236L|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.S7L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	236					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GACACAGAGTCGGAAATTGAT	0.403																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													162	145	151					X																	24225503		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.707C>T	X.37:g.24225503C>T	ENSP00000368475:p.Ser236Leu		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S275L	ENST00000379177.1	37	c.824	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626825	0.28978	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000545937	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.15	5.15	0.70609	Transcriptional activator, Zfx / Zfy domain (1);	0.608832	0.15632	N	0.252306	T	0.35885	0.0947	L	0.29908	0.895	0.09310	N	0.999998	B;B;B	0.33512	0.415;0.355;0.106	B;B;B	0.31245	0.126;0.04;0.04	T	0.26916	-1.0089	10	0.44086	T	0.13	-26.2519	11.5869	0.50923	0.0:0.9157:0.0:0.0843	.	275;236;240	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	L	7;236;5;236;236;275;31	ENSP00000438233:S7L;ENSP00000368486:S236L;ENSP00000368475:S236L;ENSP00000304985:S236L;ENSP00000441382:S275L	ENSP00000304985:S236L	S	+	2	0	ZFX	24135424	0.989000	0.36119	0.997000	0.53966	0.779000	0.44077	4.320000	0.59203	2.282000	0.76494	0.594000	0.82650	TCG	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.403	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	C	NM_003410		24225503	1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	0.230	T	T	24225503	C	T	24225503	3	4	150	1	0	0	0	0	1	0	0	0	17691	893	31	1	717	1	ZFX	23	24225503	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	16973469	24225503	131045057	88	24626										
GPR173	54328	genome.wustl.edu	37	chrX	53106076	53106076	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cacggctcttcatggaccttCagtgcactcagctgcaagat	9	13	4	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:53106076C>G	ENST00000332582.4	+	2	764	c.273C>G	c.(271-273)ttC>ttG	p.F91L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	91					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CATGGACCTTCAGTGCACTCA	0.577																																																	0													116	97	103					X																	53106076		2203	4300	6503	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.273C>G	X.37:g.53106076C>G	ENSP00000331600:p.Phe91Leu		B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F91L	ENST00000332582.4	37	c.273	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384442	0.42308	.	.	ENSG00000184194	ENST00000332582	T	0.38722	1.12	4.25	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.065336	0.64402	D	0.000006	T	0.23210	0.0561	N	0.10874	0.06	0.41847	D	0.990151	B	0.20368	0.044	B	0.26614	0.071	T	0.04825	-1.0924	10	0.27082	T	0.32	-9.0421	9.1726	0.37091	0.0:0.8889:0.0:0.1111	.	91	Q9NS66	GP173_HUMAN	L	91	ENSP00000331600:F91L	ENSP00000331600:F91L	F	+	3	2	GPR173	53122801	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.977000	0.63792	0.821000	0.34540	0.529000	0.55759	TTC	GPR173	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.577	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	C	NM_018969		53106076	1	no_errors	ENST00000332582	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53106076	C	G	53106076	3	3	150	1	0	0	0	0	1	0	0	0	6690	825	29	1	275	1	GPR173	23	53106076	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	28880573	53106076	102164484	89	24627										
MAGEE1	57692	genome.wustl.edu	37	chrX	75648955	75648955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tggtgagggaccaggcacctCcgtgccgctcgccgccactg	14	16	0	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:75648955C>T	ENST00000361470.2	+	1	910	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	211	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAGGCACCTCCGTGCCGCTC	0.687																																																	0													19	16	17					X																	75648955		2196	4279	6475	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.632C>T	X.37:g.75648955C>T	ENSP00000354912:p.Ser211Phe		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S211F	ENST00000361470.2	37	c.632	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966519	0.18659	.	.	ENSG00000198934	ENST00000361470	T	0.30714	1.52	1.93	-3.35	0.04928	.	.	.	.	.	T	0.18425	0.0442	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	9	0.87932	D	0	.	3.3505	0.07150	0.3385:0.4323:0.0:0.2293	.	211	Q9HCI5	MAGE1_HUMAN	F	211	ENSP00000354912:S211F	ENSP00000354912:S211F	S	+	2	0	MAGEE1	75565359	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.613000	0.05610	-1.239000	0.02532	-0.735000	0.03563	TCC	MAGEE1	-	NULL		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75648955	1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75648955	C	T	75648955	3	4	150	1	0	0	0	0	1	0	0	0	9208	855	30	1	634	1	MAGEE1	23	75648955	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	22542879	75648955	79621605	90	24628										
MAGEE1	57692	genome.wustl.edu	37	chrX	75649207	75649207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	cggtaagggatcaagcacctCcgtgccccccaccgccaccg	10	19	1	0			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:75649207C>T	ENST00000361470.2	+	1	1162	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	295	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCAAGCACCTCCGTGCCCCCC	0.701																																																	0													25	22	23					X																	75649207		2198	4297	6495	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.884C>T	X.37:g.75649207C>T	ENSP00000354912:p.Ser295Phe		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S295F	ENST00000361470.2	37	c.884	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592773	0.46214	.	.	ENSG00000198934	ENST00000361470	T	0.25085	1.82	1.6	0.657	0.17850	.	.	.	.	.	T	0.12774	0.0310	N	0.14661	0.345	0.09310	N	1	P	0.50819	0.939	B	0.39094	0.29	T	0.14699	-1.0463	9	0.66056	D	0.02	.	6.6855	0.23142	0.2788:0.7212:0.0:0.0	.	295	Q9HCI5	MAGE1_HUMAN	F	295	ENSP00000354912:S295F	ENSP00000354912:S295F	S	+	2	0	MAGEE1	75565611	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.035000	0.12205	0.119000	0.18210	0.431000	0.28591	TCC	MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75649207	1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.086	T	T	75649207	C	T	75649207	3	4	150	1	0	0	0	0	1	0	0	0	9208	855	30	1	886	1	MAGEE1	23	75649207	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	252	75649207	79621353	91	24629										
GPR174	84636	genome.wustl.edu	37	chrX	78426971	78426971	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	tgtactctttccactcctcaGaaccagtgatgatacctctg	6	13	3	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:78426971G>C	ENST00000276077.1	+	1	503	c.467G>C	c.(466-468)aGa>aCa	p.R156T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCACTCCTCAGAACCAGTGAT	0.488										HNSCC(63;0.18)																																							0													159	133	142					X																	78426971		2203	4300	6503	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.467G>C	X.37:g.78426971G>C	ENSP00000276077:p.Arg156Thr		Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.R156T	ENST00000276077.1	37	c.467	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	g	14.75	2.629215	0.46944	.	.	ENSG00000147138	ENST00000276077	T	0.36340	1.26	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.48935	1.535	0.45594	D	0.998537	D	0.71674	0.998	D	0.77557	0.99	T	0.45702	-0.9243	10	0.31617	T	0.26	.	15.6788	0.77352	0.0:0.0:1.0:0.0	.	156	Q9BXC1	GP174_HUMAN	T	156	ENSP00000276077:R156T	ENSP00000276077:R156T	R	+	2	0	GPR174	78313627	1.000000	0.71417	0.986000	0.45419	0.702000	0.40608	5.976000	0.70484	2.001000	0.58596	0.488000	0.48403	AGA	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	G	NM_032553		78426971	1	no_errors	ENST00000276077	ensembl	human	known	70_37	missense	SNP	0.993	C	C	78426971	G	C	78426971	3	2	150	1	0	0	0	0	1	0	0	0	6691	942	33	1	469	1	GPR174	23	78426971	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	2777764	78426971	76843589	92	24630										
BRWD3	254065	genome.wustl.edu	37	chrX	79999566	79999566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	agaagctgaatggccctgaaGgactgcaacgggtgcacaag	14	9	0	3			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:79999566G>C	ENST00000373275.4	-	8	994	c.778C>G	c.(778-780)Ctt>Gtt	p.L260V		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	260					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGGCCCTGAAGGACTGCAACG	0.393																																																	0													119	102	108					X																	79999566		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.778C>G	X.37:g.79999566G>C	ENSP00000362372:p.Leu260Val		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.L260V	ENST00000373275.4	37	c.778	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397983	0.83120	.	.	ENSG00000165288	ENST00000373275	T	0.67865	-0.29	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.282882	0.29198	N	0.012843	T	0.79805	0.4509	M	0.71296	2.17	0.58432	D	0.999995	D	0.64830	0.994	D	0.68039	0.955	T	0.80801	-0.1220	9	.	.	.	-12.6795	16.6563	0.85229	0.0:0.0:1.0:0.0	.	260	Q6RI45	BRWD3_HUMAN	V	260	ENSP00000362372:L260V	.	L	-	1	0	BRWD3	79886222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.533000	0.73829	2.193000	0.70182	0.415000	0.27848	CTT	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79999566	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79999566	G	C	79999566	3	2	150	1	0	0	0	0	1	0	0	0	1529	1000	35	4	4766	4	BRWD3	23	79999566	Missense_Mutation	SNP	G	TCGA-IR-A3LF-01A-21D-A22X-09	1572595	79999566	75270994	93	24631										
AKAP14	158798	genome.wustl.edu	37	chrX	119037199	119037199	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aaaagaaaatgagtgagactCaaaattcaacaagccagaaa	7	6	2	4			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:119037199C>G	ENST00000371431.3	+	3	287	c.13C>G	c.(13-15)Caa>Gaa	p.Q5E	AKAP14_ENST00000334356.2_Missense_Mutation_p.Q5E|AKAP14_ENST00000371423.2_Missense_Mutation_p.Q5E|AKAP14_ENST00000371425.4_Missense_Mutation_p.Q5E|AKAP14_ENST00000371422.1_Missense_Mutation_p.Q5E|AKAP14_ENST00000394594.2_Missense_Mutation_p.Q5E	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	5					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						GAGTGAGACTCAAAATTCAAC	0.408																																																	0													84	62	70					X																	119037199		2203	4300	6503	SO:0001583	missense	158798			AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"A-kinase anchor proteins"	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.13C>G	X.37:g.119037199C>G	ENSP00000360485:p.Gln5Glu		A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	NULL	p.Q5E	ENST00000371431.3	37	c.13	CCDS14591.1	X	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449446	0.12223	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000394594;ENST00000371422;ENST00000334356	.	.	.	3.59	1.22	0.21188	.	1.073470	0.07284	N	0.871336	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.26292	-1.0107	9	0.26408	T	0.33	-2.3209	3.2963	0.06968	0.6047:0.2579:0.1374:0.0	.	5;5;5	A6NNZ0;Q86UN6;Q86UN6-3	.;AKA28_HUMAN;.	E	5	.	ENSP00000334680:Q5E	Q	+	1	0	AKAP14	118921227	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.070000	0.11523	0.143000	0.18926	-0.315000	0.08773	CAA	AKAP14	-	NULL		0.408	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP14	HGNC	protein_coding	OTTHUMT00000058078.1	C	NM_178813		119037199	1	no_errors	ENST00000371431	ensembl	human	known	70_37	missense	SNP	0.000	G	G	119037199	C	G	119037199	3	3	150	1	0	0	0	0	1	0	0	0	450	827	29	1	15	1	AKAP14	23	119037199	Missense_Mutation	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	39037633	119037199	36233361	94	24632										
ATP2B3	492	genome.wustl.edu	37	chrX	152808574	152808574	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436170212765957	41	1.76648184417953e-13	3.47559566145092	5.27119164619165	2.74405655655656	0.405612394184114	0.650320698113373	29	aattcccagacaggcatcatCttcacgctgcttggagctgg	10	12	3	1			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:152808574C>T	ENST00000349466.2	+	6	1190	c.864C>T	c.(862-864)atC>atT	p.I288I	ATP2B3_ENST00000393842.1_Silent_p.I288I|ATP2B3_ENST00000263519.4_Silent_p.I288I|ATP2B3_ENST00000359149.3_Silent_p.I288I|ATP2B3_ENST00000370186.1_Silent_p.I288I|ATP2B3_ENST00000370181.2_Silent_p.I288I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	288					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCATCATCTTCACGCTGC	0.567																																																	0													110	98	102					X																	152808574		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.864C>T	X.37:g.152808574C>T			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I288	ENST00000349466.2	37	c.864	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom		0.567	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152808574	1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152808574	C	T	152808574	2	4	150	1	0	0	0	0	0	0	0	1	1142	903	32	1		1	ATP2B3	23	152808574	Silent	SNP	C	TCGA-IR-A3LF-01A-21D-A22X-09	33771375	152808574	2461986	95	24633										
SCNN1D	6339	genome.wustl.edu	37	chr1	1225898	1225898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accaggacctggagacccacCggctcccctgtacctcccgc	9	20	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1225898C>G	ENST00000338555.2	+	11	2474	c.1330C>G	c.(1330-1332)Cgg>Ggg	p.R444G	SCNN1D_ENST00000400928.3_Missense_Mutation_p.R444G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R510G|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R608G			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	444					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GGAGACCCACCGGCTCCCCTG	0.667																																																	0													63	70	68					1																	1225898		2193	4295	6488	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1330C>G	1.37:g.1225898C>G	ENSP00000339504:p.Arg444Gly		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.R608G	ENST00000338555.2	37	c.1822		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.345169|1.345169	0.24426|0.24426	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02	3.52|3.52	-1.28|-1.28	0.09318|0.09318	.|.	.|1.044700	.|0.07614	.|N	.|0.925910	T|T	0.52451|0.52451	0.1735|0.1735	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.50066	.|0.448;0.089;0.931	.|B;B;B	.|0.40602	.|0.115;0.063;0.334	T|T	0.49952|0.49952	-0.8884|-0.8884	5|10	.|0.62326	.|D	.|0.03	.|.	2.5403|2.5403	0.04724|0.04724	0.3249:0.4271:0.1481:0.0999|0.3249:0.4271:0.1481:0.0999	.|.	.|266;444;608	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	R|G	260|475;608;444;510;444	.|ENSP00000368411:R608G;ENSP00000339504:R444G;ENSP00000321594:R510G;ENSP00000383717:R444G	.|ENSP00000321594:R510G	P|R	+|+	2|1	0|2	SCNN1D|SCNN1D	1215761|1215761	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	-0.343000|-0.343000	0.07791|0.07791	-0.086000|-0.086000	0.12550|0.12550	0.485000|0.485000	0.47835|0.47835	CCG|CGG	SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.667	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	C	NM_002978		1225898	1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.000	G	G	1225898	C	G	1225898	3	3	151	1	0	0	0	0	1	0	0	0	13959	643	23	2	1570	2	SCNN1D	1	1225898	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		1225898	248024723	1	24634										
DVL1	1855	genome.wustl.edu	37	chr1	1273752	1273752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcaagctgctggcgtacttCcgggcctcccgccgctcctt	11	17	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1273752C>T	ENST00000378888.5	-	13	1688	c.1404G>A	c.(1402-1404)cgG>cgA	p.R468R	DVL1_ENST00000378891.5_Silent_p.R443R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	468	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGCGTACTTCCGGGCCTCCC	0.652																																																	0													41	38	39					1																	1273752		2201	4295	6496	SO:0001819	synonymous_variant	1855			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1404G>A	1.37:g.1273752C>T			Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.R468	ENST00000378888.5	37	c.1404		1																																																																																			DVL1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.652	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	C	NM_004421		1273752	-1	no_errors	ENST00000378888	ensembl	human	known	70_37	silent	SNP	0.681	T	T	1273752	C	T	1273752	2	4	151	1	0	0	0	0	0	0	0	1	4845	842	30	1		1	DVL1	1	1273752	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	47854	1273752	247976869	2	24635										
NADK	65220	genome.wustl.edu	37	chr1	1688672	1688672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgcagtaggctggcatctCtcatcttcttgatgacaagg	11	10	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1688672C>G	ENST00000341426.5	-	4	562	c.341G>C	c.(340-342)aGa>aCa	p.R114T	NADK_ENST00000342348.5_Missense_Mutation_p.R82T|NADK_ENST00000378625.1_Missense_Mutation_p.R218T|NADK_ENST00000341991.3_Missense_Mutation_p.R114T|NADK_ENST00000344463.4_Missense_Mutation_p.R218T|NADK_ENST00000492768.1_5'UTR	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	114					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCTGGCATCTCTCATCTTCTT	0.607																																																	0													96	96	96					1																	1688672		2203	4300	6503	SO:0001583	missense	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.341G>C	1.37:g.1688672C>G	ENSP00000341679:p.Arg114Thr		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.R218T	ENST00000341426.5	37	c.653	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507260	0.44558	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.49720	0.95;0.95;0.77;0.77;0.95;0.95	5.74	3.74	0.42951	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.059738	0.64402	D	0.000004	T	0.56572	0.1994	M	0.86651	2.83	0.37577	D	0.919675	P;P;P	0.46859	0.696;0.885;0.741	B;P;B	0.46585	0.373;0.521;0.405	T	0.63488	-0.6626	10	0.45353	T	0.12	-25.4528	9.3625	0.38203	0.0:0.7731:0.1411:0.0858	.	82;218;114	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	T	114;114;218;218;82;82	ENSP00000341679:R114T;ENSP00000344340:R114T;ENSP00000367890:R218T;ENSP00000340925:R218T;ENSP00000339727:R82T;ENSP00000383713:R82T	ENSP00000341679:R114T	R	-	2	0	NADK	1678532	0.985000	0.35326	0.086000	0.20670	0.015000	0.08874	3.010000	0.49559	0.656000	0.30886	0.561000	0.74099	AGA	NADK	-	NULL		0.607	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	C	NM_023018		1688672	-1	no_errors	ENST00000344463	ensembl	human	known	70_37	missense	SNP	0.906	G	G	1688672	C	G	1688672	3	3	151	1	0	0	0	0	1	0	0	0	10160	913	32	1	1035	1	NADK	1	1688672	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	414920	1688672	247561949	3	24636										
PRKCZ	5590	genome.wustl.edu	37	chr1	2116133	2116133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgtgcagctgaccccagacGatgagtgagtcccactgggt	13	13	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:2116133G>A	ENST00000400921.2	+	14	1821	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	C1orf86_ENST00000400919.3_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.D380N|PRKCZ_ENST00000479263.1_3'UTR|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GACCCCAGACGATGAGTGAGT	0.652																																																	0													42	39	40					1																	2116133		2203	4299	6502	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1138G>A	1.37:g.2116133G>A	ENSP00000383712:p.Asp380Asn		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.D563N	ENST00000400921.2	37	c.1687	CCDS41229.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058944	0.55325	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.47	5.47	0.80525	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	L	0.53780	1.695	0.80722	D	1	B;P;B;B	0.35575	0.313;0.51;0.313;0.313	B;B;B;B	0.27380	0.069;0.044;0.069;0.079	T	0.59679	-0.7409	10	0.44086	T	0.13	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	459;387;459;563	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	N	563;380;459;380	ENSP00000367830:D563N;ENSP00000383712:D380N;ENSP00000426412:D459N;ENSP00000383711:D380N	ENSP00000367830:D563N	D	+	1	0	PRKCZ	2105993	1.000000	0.71417	0.662000	0.29724	0.165000	0.22458	9.090000	0.94144	2.556000	0.86216	0.491000	0.48974	GAT	PRKCZ	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta		0.652	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	G	NM_002744		2116133	1	no_errors	ENST00000378567	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2116133	G	A	2116133	3	1	151	1	0	0	0	0	1	0	0	0	12544	1058	37	1	1753	1	PRKCZ	1	2116133	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	427461	2116133	247134488	4	24637										
CAMTA1	23261	genome.wustl.edu	37	chr1	7798111	7798111	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaagcataaattgaaccctGagtacttccagacaaggcag	8	9	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:7798111G>A	ENST00000303635.7	+	16	3958	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E1251K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATTGAACCCTGAGTACTTCCA	0.478			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													77	76	76					1																	7798111		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3751G>A	1.37:g.7798111G>A	ENSP00000306522:p.Glu1251Lys		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.E1251K	ENST00000303635.7	37	c.3751	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953171	0.92660	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.25579	1.84;1.79	5.17	5.17	0.71159	.	0.105788	0.64402	D	0.000005	T	0.46908	0.1417	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.997;0.997	D;D;D;D	0.73380	0.91;0.98;0.98;0.98	T	0.36480	-0.9746	10	0.49607	T	0.09	-9.0503	18.6791	0.91540	0.0:0.0:1.0:0.0	.	1251;338;207;1251	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	K	1251;1251;338;207	ENSP00000306522:E1251K;ENSP00000402561:E1251K	ENSP00000306522:E1251K	E	+	1	0	CAMTA1	7720698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.398000	0.81561	0.655000	0.94253	GAG	CAMTA1	-	NULL		0.478	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7798111	1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7798111	G	A	7798111	3	1	151	1	0	0	0	0	1	0	0	0	2618	1291	45	1	3813	1	CAMTA1	1	7798111	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5681978	7798111	241452510	5	24638										
MASP2	10747	genome.wustl.edu	37	chr1	11107058	11107058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtccagcgccgctcctggtCattggcatactcccctggaa	11	15	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:11107058C>T	ENST00000400897.3	-	2	139	c.124G>A	c.(124-126)Gac>Aac	p.D42N	MASP2_ENST00000400898.3_Missense_Mutation_p.D42N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	42	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGCTCCTGGTCATTGGCATAC	0.667																																					GBM(35;611 746 20780 22741 36496)												0													20	26	24					1																	11107058		2159	4218	6377	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.124G>A	1.37:g.11107058C>T	ENSP00000383690:p.Asp42Asn		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D42N	ENST00000400897.3	37	c.124	CCDS123.1	1	.	.	.	.	.	.	.	.	.	.	C	7.463	0.645107	0.14451	.	.	ENSG00000009724	ENST00000400897;ENST00000400898	T;T	0.24538	1.85;1.85	5.02	-3.81	0.04294	CUB (5);	0.835071	0.10507	N	0.666699	T	0.07007	0.0178	N	0.01188	-0.97	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38001	-0.9681	10	0.23891	T	0.37	.	7.24	0.26092	0.0:0.3196:0.4138:0.2667	.	42;42	O00187-2;O00187	.;MASP2_HUMAN	N	42	ENSP00000383690:D42N;ENSP00000383691:D42N	ENSP00000383690:D42N	D	-	1	0	MASP2	11029645	0.003000	0.15002	0.000000	0.03702	0.041000	0.13682	-0.524000	0.06222	-0.497000	0.06641	0.655000	0.94253	GAC	MASP2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.667	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	C	NM_006610		11107058	-1	no_errors	ENST00000400897	ensembl	human	known	70_37	missense	SNP	0.268	T	T	11107058	C	T	11107058	3	4	151	1	0	0	0	0	1	0	0	0	9346	826	29	1	1994	1	MASP2	1	11107058	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3308947	11107058	238143563	6	24639										
VPS13D	55187	genome.wustl.edu	37	chr1	12343083	12343083	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgactttgggggcccaaggtCttgtgagcttaaagtttcag	13	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:12343083C>T	ENST00000358136.3	+	21	5054	c.4924C>T	c.(4924-4926)Ctt>Ttt	p.L1642F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1642F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCCCAAGGTCTTGTGAGCTT	0.443																																																	0													96	103	100					1																	12343083		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4924C>T	1.37:g.12343083C>T	ENSP00000350854:p.Leu1642Phe			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L1642F	ENST00000358136.3	37	c.4924	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608549	0.66558	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.61980	0.06;0.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.77332	-0.2627	10	0.56958	D	0.05	.	14.2675	0.66129	0.0:0.9293:0.0:0.0707	.	1642;1642	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	1642	ENSP00000348666:L1642F;ENSP00000350854:L1642F	ENSP00000348666:L1642F	L	+	1	0	VPS13D	12265670	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.375000	0.44283	2.756000	0.94617	0.561000	0.74099	CTT	VPS13D	-	NULL		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12343083	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12343083	C	T	12343083	3	4	151	1	0	0	0	0	1	0	0	0	17223	913	32	1	5002	1	VPS13D	1	12343083	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1236025	12343083	236907538	7	24640										
VPS13D	55187	genome.wustl.edu	37	chr1	12557624	12557624	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggctgcttccccgatattctGagagccaggcggaaggacag	14	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:12557624G>C	ENST00000358136.3	+	68	12863	c.12733G>C	c.(12733-12735)Gag>Cag	p.E4245Q	VPS13D_ENST00000543766.1_Missense_Mutation_p.E243Q|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4220Q|VPS13D_ENST00000543710.1_Missense_Mutation_p.E49Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCGATATTCTGAGAGCCAGGC	0.537																																																	0													74	75	74					1																	12557624		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12733G>C	1.37:g.12557624G>C	ENSP00000350854:p.Glu4245Gln			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E4245Q	ENST00000358136.3	37	c.12733	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689940	0.48097	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710	T;T;T	0.00730	5.77;5.77;5.77	6.03	6.03	0.97812	.	0.302249	0.40385	N	0.001118	T	0.01124	0.0037	N	0.25332	0.735	0.34271	D	0.680994	B;P;P	0.43701	0.284;0.806;0.815	B;P;B	0.44921	0.137;0.464;0.274	T	0.73685	-0.3905	10	0.11182	T	0.66	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	243;4220;4244	F5GX56;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	Q	4220;4245;243;49	ENSP00000348666:E4220Q;ENSP00000350854:E4245Q;ENSP00000441122:E243Q	ENSP00000348666:E4220Q	E	+	1	0	VPS13D	12480211	1.000000	0.71417	0.965000	0.40720	0.523000	0.34469	5.839000	0.69395	2.861000	0.98227	0.655000	0.94253	GAG	VPS13D	-	NULL		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12557624	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.998	C	C	12557624	G	C	12557624	3	2	151	1	0	0	0	0	1	0	0	0	17223	1291	45	1	12999	1	VPS13D	1	12557624	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	214541	12557624	236692997	8	24641										
ZBTB17	7709	genome.wustl.edu	37	chr1	16272682	16272682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgggcctgaccgccgcgctCctccttgaggtccctgctgg	13	17	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:16272682C>G	ENST00000375743.4	-	5	734	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E86Q|ZBTB17_ENST00000448462.2_Missense_Mutation_p.E105Q|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E168Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	168					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCGCGCTCCTCCTTGAGG	0.667																																																	0													91	90	90					1																	16272682		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.502G>C	1.37:g.16272682C>G	ENSP00000364895:p.Glu168Gln		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E168Q	ENST00000375743.4	37	c.502	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354054	0.41700	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000537142;ENST00000448462	T;T;T;T	0.12774	2.66;2.65;2.87;2.95	4.39	4.39	0.52855	.	0.428844	0.23239	N	0.050362	T	0.17662	0.0424	N	0.11560	0.145	0.38677	D	0.952452	P;D;D;B;B;B;B	0.63880	0.473;0.981;0.993;0.047;0.047;0.275;0.015	B;P;D;B;B;B;B	0.70227	0.091;0.783;0.968;0.015;0.022;0.076;0.007	T	0.12344	-1.0551	10	0.66056	D	0.02	.	11.1801	0.48623	0.0:0.8125:0.1875:0.0	.	168;92;105;168;86;168;168	B4DGV6;B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;.;ZBT17_HUMAN	Q	168;168;86;105	ENSP00000364895:E168Q;ENSP00000364885:E168Q;ENSP00000438529:E86Q;ENSP00000391002:E105Q	ENSP00000364885:E168Q	E	-	1	0	ZBTB17	16145269	0.002000	0.14202	1.000000	0.80357	0.084000	0.17831	1.174000	0.31932	2.368000	0.80403	0.462000	0.41574	GAG	ZBTB17	-	NULL		0.667	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16272682	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16272682	C	G	16272682	3	3	151	1	0	0	0	0	1	0	0	0	17557	864	30	1	1957	1	ZBTB17	1	16272682	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3715058	16272682	232977939	9	24642										
EPHA2	1969	genome.wustl.edu	37	chr1	16459997	16459997	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgctccgatcaccttctgccGagtgacacaggatggatgga	12	11	2	1	rs373953344		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:16459997G>C	ENST00000358432.5	-	10	1997	c.1843C>G	c.(1843-1845)Cgg>Ggg	p.R615G		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	615	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCTTCTGCCGAGTGACACAG	0.607																																																	0													76	69	72					1																	16459997		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1843C>G	1.37:g.16459997G>C	ENSP00000351209:p.Arg615Gly		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R615G	ENST00000358432.5	37	c.1843	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797005	0.70567	.	.	ENSG00000142627	ENST00000358432	D	0.82619	-1.63	5.62	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.243966	0.28983	N	0.013518	T	0.79707	0.4492	L	0.47190	1.495	0.41960	D	0.990701	P	0.43973	0.823	B	0.42827	0.399	T	0.80770	-0.1234	10	0.59425	D	0.04	.	12.1894	0.54261	0.0:0.0:0.6794:0.3206	.	615	P29317	EPHA2_HUMAN	G	615	ENSP00000351209:R615G	ENSP00000351209:R615G	R	-	1	2	EPHA2	16332584	0.983000	0.35010	0.926000	0.36857	0.995000	0.86356	2.881000	0.48538	1.316000	0.45131	0.655000	0.94253	CGG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,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,pfscan_Prot_kinase_cat_dom		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16459997	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	0.926	C	C	16459997	G	C	16459997	3	2	151	1	0	0	0	0	1	0	0	0	5179	1057	37	1	1119	1	EPHA2	1	16459997	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	187315	16459997	232790624	10	24643										
ATP13A2	23400	genome.wustl.edu	37	chr1	17326795	17326795	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caacttgaccatgtcccttaGagtctggctttgctgtgggc	11	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17326795G>C	ENST00000326735.8	-	10	886	c.853C>G	c.(853-855)Cta>Gta	p.L285V	ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000341676.5_Missense_Mutation_p.L280V|ATP13A2_ENST00000452699.1_Missense_Mutation_p.L280V|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	285					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ATGTCCCTTAGAGTCTGGCTT	0.687																																																	0													25	23	24					1																	17326795		2196	4291	6487	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.853C>G	1.37:g.17326795G>C	ENSP00000327214:p.Leu285Val		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.L285V	ENST00000326735.8	37	c.853	CCDS175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882788|3.882788	0.72410|0.72410	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174;ENST00000511957|ENST00000510069;ENST00000508222	D;D;D;T;D|.	0.91011|.	-2.77;-2.77;-2.77;-0.47;-2.59|.	4.82|4.82	2.9|2.9	0.33743|0.33743	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75184|0.75184	0.3815|0.3815	M|M	0.89534|0.89534	3.04|3.04	0.48696|0.48696	D|D	0.99969|0.99969	P;P;P|.	0.51449|.	0.784;0.891;0.945|.	P;P;P|.	0.59357|.	0.573;0.665;0.856|.	T|T	0.73920|0.73920	-0.3830|-0.3830	10|5	0.87932|.	D|.	0|.	-13.3696|-13.3696	6.6142|6.6142	0.22769|0.22769	0.1659:0.146:0.6881:0.0|0.1659:0.146:0.6881:0.0	.|.	280;280;285|.	Q5JXY1;Q6S9Z9;Q9NQ11|.	.;.;AT132_HUMAN|.	V|C	285;280;280;5;180|259;182	ENSP00000327214:L285V;ENSP00000341115:L280V;ENSP00000413307:L280V;ENSP00000424393:L5V;ENSP00000427241:L180V|.	ENSP00000327214:L285V|.	L|S	-|-	1|2	2|0	ATP13A2|ATP13A2	17199382|17199382	1.000000|1.000000	0.71417|0.71417	0.677000|0.677000	0.29947|0.29947	0.985000|0.985000	0.73830|0.73830	5.335000|5.335000	0.65929|0.65929	0.528000|0.528000	0.28580|0.28580	0.585000|0.585000	0.79938|0.79938	CTA|TCT	ATP13A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr		0.687	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17326795	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	0.949	C	C	17326795	G	C	17326795	3	2	151	1	0	0	0	0	1	0	0	0	1125	933	33	1	3005	1	ATP13A2	1	17326795	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	866798	17326795	231923826	11	24644										
PADI3	51702	genome.wustl.edu	37	chr1	17601261	17601261	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taccccctggggaggatcctCattgggggcaacctgcctgg	14	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17601261C>T	ENST00000375460.3	+	11	1327	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	429					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGGATCCTCATTGGGGGCA	0.622											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44	48	46					1																	17601261		2203	4299	6502	SO:0001819	synonymous_variant	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1287C>T	1.37:g.17601261C>T		719	Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L429	ENST00000375460.3	37	c.1287	CCDS179.1	1																																																																																			PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.622	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	C			17601261	1	no_errors	ENST00000375460	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17601261	C	T	17601261	2	4	151	1	0	0	0	0	0	0	0	1	11403	813	29	1		1	PADI3	1	17601261	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	274466	17601261	231649360	12	24645										
PADI4	23569	genome.wustl.edu	37	chr1	17681089	17681089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggtatcagtggactggactCctttgggaacctggaagtga	15	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17681089C>T	ENST00000375448.4	+	11	1243	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	406					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGACTGGACTCCTTTGGGAAC	0.552																																																	0													62	68	66					1																	17681089		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1217C>T	1.37:g.17681089C>T	ENSP00000364597:p.Ser406Phe		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.S406F	ENST00000375448.4	37	c.1217	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874570	0.72180	.	.	ENSG00000159339	ENST00000375448	T	0.30714	1.52	5.6	3.72	0.42706	Protein-arginine deiminase, C-terminal (1);	0.063428	0.64402	D	0.000003	T	0.41213	0.1149	M	0.91196	3.185	0.23765	N	0.9969	P	0.34462	0.454	B	0.34138	0.176	T	0.47394	-0.9121	10	0.87932	D	0	-21.635	8.6863	0.34240	0.0:0.6333:0.2893:0.0774	.	406	Q9UM07	PADI4_HUMAN	F	406	ENSP00000364597:S406F	ENSP00000364597:S406F	S	+	2	0	PADI4	17553676	1.000000	0.71417	0.840000	0.33206	0.769000	0.43574	7.246000	0.78247	0.726000	0.32339	0.561000	0.74099	TCC	PADI4	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.552	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	C	NM_012387		17681089	1	no_errors	ENST00000375448	ensembl	human	known	70_37	missense	SNP	0.998	T	T	17681089	C	T	17681089	3	4	151	1	0	0	0	0	1	0	0	0	11404	855	30	1	1259	1	PADI4	1	17681089	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	79828	17681089	231569532	13	24646										
PADI4	23569	genome.wustl.edu	37	chr1	17681157	17681157	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aatacccgctgggcaggattCtcttcggggacagctgttat	12	10	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17681157C>G	ENST00000375448.4	+	11	1311	c.1285C>G	c.(1285-1287)Ctc>Gtc	p.L429V	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	429					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGGCAGGATTCTCTTCGGGGA	0.592																																																	0													35	39	38					1																	17681157		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1285C>G	1.37:g.17681157C>G	ENSP00000364597:p.Leu429Val		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L429V	ENST00000375448.4	37	c.1285	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681107	0.47886	.	.	ENSG00000159339	ENST00000375448	T	0.34472	1.36	5.6	4.63	0.57726	Protein-arginine deiminase, C-terminal (1);	0.138463	0.49305	D	0.000157	T	0.47600	0.1454	L	0.56124	1.755	0.29730	N	0.837952	D	0.57899	0.981	P	0.56514	0.8	T	0.42816	-0.9429	10	0.39692	T	0.17	-42.5551	14.0238	0.64573	0.1517:0.8482:0.0:0.0	.	429	Q9UM07	PADI4_HUMAN	V	429	ENSP00000364597:L429V	ENSP00000364597:L429V	L	+	1	0	PADI4	17553744	1.000000	0.71417	0.996000	0.52242	0.340000	0.28889	2.826000	0.48104	2.645000	0.89757	0.561000	0.74099	CTC	PADI4	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.592	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	C	NM_012387		17681157	1	no_errors	ENST00000375448	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17681157	C	G	17681157	3	3	151	1	0	0	0	0	1	0	0	0	11404	913	32	1	1327	1	PADI4	1	17681157	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	68	17681157	231569464	14	24647										
UBR4	23352	genome.wustl.edu	37	chr1	19436940	19436940	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atccgtcagcagcagcatttCatactgcaggctacttgcct	8	13	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:19436940C>T	ENST00000375254.3	-	80	11938	c.11911G>A	c.(11911-11913)Gaa>Aaa	p.E3971K	UBR4_ENST00000375226.2_Missense_Mutation_p.E3947K|UBR4_ENST00000375267.2_Missense_Mutation_p.E3971K|UBR4_ENST00000375217.2_Missense_Mutation_p.E3964K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3971					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCAGCATTTCATACTGCAGG	0.498																																																	0													59	57	58					1																	19436940		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11911G>A	1.37:g.19436940C>T	ENSP00000364403:p.Glu3971Lys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E3971K	ENST00000375254.3	37	c.11911	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.115809	0.94339	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	M	0.79475	2.455	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.80834	-0.1205	10	0.72032	D	0.01	.	18.8256	0.92117	0.0:1.0:0.0:0.0	.	3971	Q5T4S7	UBR4_HUMAN	K	3971;3971;3964;3947	ENSP00000364403:E3971K;ENSP00000364416:E3971K;ENSP00000364365:E3964K;ENSP00000364374:E3947K	ENSP00000364365:E3964K	E	-	1	0	UBR4	19309527	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.793000	0.96121	0.655000	0.94253	GAA	UBR4	-	superfamily_ARM-type_fold		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19436940	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19436940	C	T	19436940	3	4	151	1	0	0	0	0	1	0	0	0	16935	835	29	1	3748	1	UBR4	1	19436940	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1755783	19436940	229813681	15	24648										
USP48	84196	genome.wustl.edu	37	chr1	22050544	22050544	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttggtaggtgttgattcatCcaaccacttttgcagccatt	8	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22050544C>G	ENST00000308271.9	-	12	2143	c.1495G>C	c.(1495-1497)Gat>Cat	p.D499H	USP48_ENST00000400301.1_Missense_Mutation_p.D499H|USP48_ENST00000374732.3_Missense_Mutation_p.D38H|USP48_ENST00000529637.1_Missense_Mutation_p.D498H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	499	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTTGATTCATCCAACCACTTT	0.403																																																	0													77	76	77					1																	22050544		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1495G>C	1.37:g.22050544C>G	ENSP00000309262:p.Asp499His		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.D499H	ENST00000308271.9	37	c.1495	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505318	0.85282	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637;ENST00000526044;ENST00000534705	T;T;T	0.42513	0.97;3.39;3.41	5.94	5.94	0.96194	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.087489	0.85682	D	0.000000	T	0.64560	0.2609	M	0.70595	2.14	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.958;0.958;0.855;0.999	D;P;P;P;D	0.65443	0.91;0.723;0.723;0.533;0.935	T	0.62487	-0.6844	10	0.49607	T	0.09	.	19.3475	0.94370	0.0:1.0:0.0:0.0	.	498;499;499;499;38	B7ZKS7;Q86UV5-3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	H	499;499;38;498;85;121	ENSP00000383157:D499H;ENSP00000309262:D499H;ENSP00000431949:D498H	ENSP00000309262:D499H	D	-	1	0	USP48	21923131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.807000	0.96579	0.591000	0.81541	GAT	USP48	-	NULL		0.403	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22050544	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22050544	C	G	22050544	3	3	151	1	0	0	0	0	1	0	0	0	17110	855	30	1	1676	1	USP48	1	22050544	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2613604	22050544	227200077	16	24649										
HSPG2	3339	genome.wustl.edu	37	chr1	22174210	22174210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggagggaaggctgcccccaCgcttgtaccatgtgatgata	14	10	0	2	rs549490616		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22174210C>T	ENST00000374695.3	-	61	8076	c.7997G>A	c.(7996-7998)cGt>cAt	p.R2666H	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2666	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R2666H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGCCCCCACGCTTGTACCA	0.632													C|||	1	0.000199681	0	0	5008	,	,		18896	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	prostate(1)											44	41	42					1																	22174210		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7997G>A	1.37:g.22174210C>T	ENSP00000363827:p.Arg2666His		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.R2666H	ENST00000374695.3	37	c.7997	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369057	0.82463	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.15372	2.43;2.43	5.13	5.13	0.70059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32533	N	0.005964	T	0.40862	0.1134	M	0.73372	2.23	0.36951	D	0.892877	D;D	0.89917	0.992;1.0	D;D	0.77557	0.91;0.99	T	0.39781	-0.9597	10	0.34782	T	0.22	.	16.1066	0.81225	0.0:1.0:0.0:0.0	.	606;2666	Q59EG0;P98160	.;PGBM_HUMAN	H	2666;81	ENSP00000363827:R2666H;ENSP00000396310:R81H	ENSP00000363827:R2666H	R	-	2	0	HSPG2	22046797	0.938000	0.31826	1.000000	0.80357	0.950000	0.60333	1.817000	0.39002	2.389000	0.81357	0.655000	0.94253	CGT	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22174210	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22174210	C	T	22174210	3	4	151	1	0	0	0	0	1	0	0	0	7450	536	19	2	5326	2	HSPG2	1	22174210	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	123666	22174210	227076411	17	24650										
HSPG2	3339	genome.wustl.edu	37	chr1	22201113	22201113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggagggcgggacttacctggCaggcacctgtttctggctcg	16	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22201113C>T	ENST00000374695.3	-	27	3603	c.3524G>A	c.(3523-3525)tGc>tAc	p.C1175Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1175	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACTTACCTGGCAGGCACCTGT	0.642																																																	0													31	31	31					1																	22201113		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3524G>A	1.37:g.22201113C>T	ENSP00000363827:p.Cys1175Tyr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.C1175Y	ENST00000374695.3	37	c.3524	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101135	0.56183	.	.	ENSG00000142798	ENST00000374695	D	0.94330	-3.4	4.92	4.92	0.64577	EGF-like, laminin (4);	0.000000	0.41396	D	0.000893	D	0.98024	0.9349	H	0.98256	4.185	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99552	1.0966	10	0.87932	D	0	.	15.606	0.76672	0.0:1.0:0.0:0.0	.	1175	P98160	PGBM_HUMAN	Y	1175	ENSP00000363827:C1175Y	ENSP00000363827:C1175Y	C	-	2	0	HSPG2	22073700	1.000000	0.71417	0.999000	0.59377	0.221000	0.24807	7.273000	0.78527	2.273000	0.75805	0.400000	0.26472	TGC	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22201113	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22201113	C	T	22201113	3	4	151	1	0	0	0	0	1	0	0	0	7450	710	25	4	9935	4	HSPG2	1	22201113	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	26903	22201113	227049508	18	24651										
ZBTB40	9923	genome.wustl.edu	37	chr1	22817950	22817950	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agaaaatgaaggtgtcttctCagatgcactcatggttaccc	9	9	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22817950C>G	ENST00000375647.4	+	3	962	c.755C>G	c.(754-756)tCa>tGa	p.S252*	ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.S252*|ZBTB40_ENST00000404138.1_Nonsense_Mutation_p.S252*	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	252					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGTCTTCTCAGATGCACTC	0.348																																																	0													76	82	80					1																	22817950		2203	4300	6503	SO:0001587	stop_gained	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.755C>G	1.37:g.22817950C>G	ENSP00000364798:p.Ser252*		O75066|Q5TFU5|Q8N1R1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S252*	ENST00000375647.4	37	c.755	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.686029	0.98914	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	.	.	.	5.57	5.57	0.84162	.	0.000000	0.46145	D	0.000311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2729	13.8082	0.63246	0.0:0.8464:0.1535:0.0	.	.	.	.	X	252;206;252;252;252	.	ENSP00000363780:S206X	S	+	2	0	ZBTB40	22690537	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.248000	0.51430	2.617000	0.88574	0.585000	0.79938	TCA	ZBTB40	-	NULL		0.348	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	C	NM_014870		22817950	1	no_errors	ENST00000375647	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	22817950	C	G	22817950	4	3	151	1	0	0	0	0	0	1	0	0	17572	838	29	1	761	1	ZBTB40	1	22817950	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	616837	22817950	226432671	19	24652										
EPHA8	2046	genome.wustl.edu	37	chr1	22920082	22920082	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agagccaccgtctccggcctCaagccgggcacccgctacgt	11	18	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22920082C>G	ENST00000166244.3	+	7	1578	c.1506C>G	c.(1504-1506)ctC>ctG	p.L502L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	502	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTCCGGCCTCAAGCCGGGCA	0.682																																																	0													26	28	27					1																	22920082		2196	4297	6493	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1506C>G	1.37:g.22920082C>G			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L502	ENST00000166244.3	37	c.1506	CCDS225.1	1																																																																																			EPHA8	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	C	NM_020526		22920082	1	no_errors	ENST00000166244	ensembl	human	known	70_37	silent	SNP	0.998	G	G	22920082	C	G	22920082	2	3	151	1	0	0	0	0	0	0	0	1	5185	813	29	1		1	EPHA8	1	22920082	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	102132	22920082	226330539	20	24653										
KDM1A	23028	genome.wustl.edu	37	chr1	23399797	23399797	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttgcagtgatgtatatctCtcatcaagagacagacaaat	7	7	3	3	rs369674278		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:23399797C>T	ENST00000356634.3	+	13	1712	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	KDM1A_ENST00000542151.1_Silent_p.L545L|KDM1A_ENST00000400181.4_Silent_p.L545L|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	521	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|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)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATGTATATCTCTCATCAAGAG	0.393																																																	0								C	,	0,4406		0,0,2203	135	137	136		1635,1563	-4.7	0.5	1		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KDM1A	NM_001009999.2,NM_015013.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	545/877,521/853	23399797	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1563C>T	1.37:g.23399797C>T			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.L545	ENST00000356634.3	37	c.1635	CCDS30627.1	1																																																																																			KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease		0.393	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	C	NM_015013		23399797	1	no_errors	ENST00000542151	ensembl	human	known	70_37	silent	SNP	0.988	T	T	23399797	C	T	23399797	2	4	151	1	0	0	0	0	0	0	0	1	8142	900	32	1		1	KDM1A	1	23399797	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	479715	23399797	225850824	21	24654										
CNKSR1	10256	genome.wustl.edu	37	chr1	26513963	26513963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcgctgctgataccctgacaGatctgagcatgtgagtgccg	12	11	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:26513963G>A	ENST00000374253.5	+	16	1504	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	CNKSR1_ENST00000361530.6_Missense_Mutation_p.D482N|CNKSR1_ENST00000531191.1_Missense_Mutation_p.D224N	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	489	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TACCCTGACAGATCTGAGCAT	0.537																																					NSCLC(180;1396 2109 28270 30756 34275)												0													160	137	145					1																	26513963		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1465G>A	1.37:g.26513963G>A	ENSP00000363371:p.Asp489Asn		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.D489N	ENST00000374253.5	37	c.1465		1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021677	0.93462	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.15718	2.4;2.4;2.4	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	L	0.55834	1.745	0.80722	D	1	D;D	0.69078	0.997;0.997	P;D	0.64877	0.906;0.93	T	0.07501	-1.0769	10	0.87932	D	0	-13.3699	19.5245	0.95199	0.0:0.0:1.0:0.0	.	489;482	Q969H4;Q53GM7	CNKR1_HUMAN;.	N	482;489;224	ENSP00000354609:D482N;ENSP00000363371:D489N;ENSP00000431817:D224N	ENSP00000354609:D482N	D	+	1	0	CNKSR1	26386550	1.000000	0.71417	0.967000	0.41034	0.825000	0.46686	8.060000	0.89464	2.608000	0.88229	0.655000	0.94253	GAT	CNKSR1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.537	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	G	NM_006314		26513963	1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26513963	G	A	26513963	3	1	151	1	0	0	0	0	1	0	0	0	3611	942	33	1	1506	1	CNKSR1	1	26513963	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3114166	26513963	222736658	22	24655										
ATPIF1	93974	genome.wustl.edu	37	chr1	28562908	28562908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggggcgcgggctccatccggGaagccggtggggccttcgga	20	12	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:28562908G>A	ENST00000335514.5	+	2	175	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	ATPIF1_ENST00000497986.1_Missense_Mutation_p.E42K|ATPIF1_ENST00000465645.1_Missense_Mutation_p.E42K|ATPIF1_ENST00000468425.2_Missense_Mutation_p.E42K	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	42	N-terminal inhibitory region. {ECO:0000250}.				angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCATCCGGGAAGCCGGTGG	0.627																																																	0													69	79	76					1																	28562908		2203	4300	6503	SO:0001583	missense	93974			AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"Mitochondrial respiratory chain complex / Complex V"	871	protein-coding gene	gene with protein product	"ATPase inhibitor protein", "ATP synthase inhibitor protein"	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.124G>A	1.37:g.28562908G>A	ENSP00000335203:p.Glu42Lys		Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	pfam_ATPase_inhibitor_IATP_mt	p.E42K	ENST00000335514.5	37	c.124	CCDS319.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.406620	0.97542	.	.	ENSG00000130770	ENST00000497986;ENST00000417632;ENST00000335514;ENST00000468425;ENST00000465645	D	0.92647	-3.08	5.78	5.78	0.91487	.	0.333732	0.34156	N	0.004211	D	0.94235	0.8149	M	0.70842	2.15	0.58432	D	0.999999	P;D	0.55385	0.626;0.971	B;P	0.53401	0.432;0.725	D	0.94101	0.7362	10	0.59425	D	0.04	-14.8801	17.8559	0.88762	0.0:0.0:1.0:0.0	.	42;42	Q9UII2;Q9UII2-2	ATIF1_HUMAN;.	K	42	ENSP00000335203:E42K	ENSP00000335203:E42K	E	+	1	0	ATPIF1	28435495	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.362000	0.66098	2.894000	0.99253	0.655000	0.94253	GAA	ATPIF1	-	pfam_ATPase_inhibitor_IATP_mt		0.627	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPIF1	HGNC	protein_coding	OTTHUMT00000009841.1	G	NM_016311		28562908	1	no_errors	ENST00000335514	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28562908	G	A	28562908	3	1	151	1	0	0	0	0	1	0	0	0	1204	1175	41	1	130	1	ATPIF1	1	28562908	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2048945	28562908	220687713	23	24656										
ATPIF1	93974	genome.wustl.edu	37	chr1	28564291	28564291	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacattacaggttatgctttGagatctctttggggtgaagg	13	5	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:28564291G>C	ENST00000335514.5	+	3	230				ATPIF1_ENST00000497986.1_Missense_Mutation_p.E67Q|RP5-1092A3.4_ENST00000604716.1_RNA|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1						angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GTTATGCTTTGAGATCTCTTT	0.438																																																	0													126	119	122					1																	28564291		2203	4300	6503	SO:0001627	intron_variant	93974			AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"Mitochondrial respiratory chain complex / Complex V"	871	protein-coding gene	gene with protein product	"ATPase inhibitor protein", "ATP synthase inhibitor protein"	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.180-57G>C	1.37:g.28564291G>C			Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	pfam_ATPase_inhibitor_IATP_mt	p.E67Q	ENST00000335514.5	37	c.199	CCDS319.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095574	0.36952	.	.	ENSG00000130770	ENST00000497986	.	.	.	4.21	2.64	0.31445	.	.	.	.	.	T	0.36771	0.0979	.	.	.	0.20764	N	0.999851	D	0.57257	0.979	P	0.48524	0.58	T	0.18840	-1.0324	7	0.87932	D	0	.	6.308	0.21149	0.2086:0.0:0.7914:0.0	.	67	Q9UII2-2	.	Q	67	.	ENSP00000435579:E67Q	E	+	1	0	ATPIF1	28436878	0.096000	0.21769	0.205000	0.23548	0.356000	0.29392	0.072000	0.14617	0.643000	0.30638	0.561000	0.74099	GAG	ATPIF1	-	NULL		0.438	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPIF1	HGNC	protein_coding	OTTHUMT00000009841.1	G	NM_016311		28564291	1	no_errors	ENST00000497986	ensembl	human	known	70_37	missense	SNP	0.064	C	C	28564291	G	C	28564291	1	2	151	0	1	0	0	0	0	0	0	0	1204	1291	45	1		1	ATPIF1	1	28564291	Intron	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1383	28564291	220686330	24	24657										
OPRD1	4985	genome.wustl.edu	37	chr1	29185700	29185700	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcgctgtctgccaccctgtCaaggccctggacttccgcac	9	17	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:29185700C>G	ENST00000234961.2	+	2	704	c.462C>G	c.(460-462)gtC>gtG	p.V154V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	154					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCCACCCTGTCAAGGCCCTGG	0.567																																																	0													110	84	92					1																	29185700		2203	4300	6503	SO:0001819	synonymous_variant	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.462C>G	1.37:g.29185700C>G			B5B0B8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.V154	ENST00000234961.2	37	c.462	CCDS329.1	1																																																																																			OPRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.567	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	C	NM_000911		29185700	1	no_errors	ENST00000234961	ensembl	human	known	70_37	silent	SNP	1.000	G	G	29185700	C	G	29185700	2	3	151	1	0	0	0	0	0	0	0	1	10908	813	29	1		1	OPRD1	1	29185700	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	621409	29185700	220064921	25	24658										
KIAA0319L	79932	genome.wustl.edu	37	chr1	35920058	35920058	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtctccttcttgcatcgcaGagagctgtaaggttggtgtt	12	8	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:35920058G>C	ENST00000325722.3	-	11	1919	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C	KIAA0319L_ENST00000373266.4_5'UTR|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	562	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCATCGCAGAGAGCTGTAA	0.453																																																	0													159	126	137					1																	35920058		2203	4300	6503	SO:0001583	missense	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1685C>G	1.37:g.35920058G>C	ENSP00000318406:p.Ser562Cys		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S562C	ENST00000325722.3	37	c.1685	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887523	0.72410	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579	T;T;T	0.14766	2.48;2.48;2.48	5.95	5.95	0.96441	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (3);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	T	0.59925	-0.7362	10	0.87932	D	0	-13.5	19.3813	0.94536	0.0:0.0:1.0:0.0	.	562;562	Q8IZA0-2;Q8IZA0	.;K319L_HUMAN	C	562	ENSP00000318406:S562C;ENSP00000395883:S562C;ENSP00000407576:S562C	ENSP00000318406:S562C	S	-	2	0	KIAA0319L	35692645	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	TCT	KIAA0319L	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom		0.453	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	G	NM_024874		35920058	-1	no_errors	ENST00000325722	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35920058	G	C	35920058	3	2	151	1	0	0	0	0	1	0	0	0	8189	942	33	1	1508	1	KIAA0319L	1	35920058	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6734358	35920058	213330563	26	24659										
COL8A2	1296	genome.wustl.edu	37	chr1	36563499	36563499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccattgtagagagtccggtCaaatttcacgggcatgcccg	12	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:36563499C>T	ENST00000397799.1	-	4	2007	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	COL8A2_ENST00000481785.1_Missense_Mutation_p.D530N|COL8A2_ENST00000303143.4_Missense_Mutation_p.D595N			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	595	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAGTCCGGTCAAATTTCACG	0.622																																																	0													40	37	38					1																	36563499		2203	4300	6503	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1783G>A	1.37:g.36563499C>T	ENSP00000380901:p.Asp595Asn		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D595N	ENST00000397799.1	37	c.1783	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840877	0.71488	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.86694	-2.16;-2.16;-2.16	4.55	4.55	0.56014	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	L	0.40543	1.245	0.80722	D	1	P	0.34815	0.47	P	0.46299	0.511	T	0.80190	-0.1485	10	0.06757	T	0.87	.	17.8617	0.88783	0.0:1.0:0.0:0.0	.	595	P25067	CO8A2_HUMAN	N	595;595;530;319	ENSP00000305913:D595N;ENSP00000380901:D595N;ENSP00000436433:D530N	ENSP00000305913:D595N	D	-	1	0	COL8A2	36336086	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.765000	0.68834	2.506000	0.84524	0.563000	0.77884	GAC	COL8A2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.622	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	HGNC	protein_coding	OTTHUMT00000313674.1	C	NM_005202		36563499	-1	no_errors	ENST00000303143	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36563499	C	T	36563499	3	4	151	1	0	0	0	0	1	0	0	0	3711	826	29	1	332	1	COL8A2	1	36563499	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	643441	36563499	212687122	27	24660										
COL8A2	1296	genome.wustl.edu	37	chr1	36564455	36564455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggactcccacaccgtctactCcaggaggtccttttgggccc	10	16	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:36564455C>G	ENST00000397799.1	-	4	1051	c.827G>C	c.(826-828)gGa>gCa	p.G276A	COL8A2_ENST00000481785.1_Missense_Mutation_p.G211A|COL8A2_ENST00000303143.4_Missense_Mutation_p.G276A			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	276	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTCTACTCCAGGAGGTCC	0.706																																																	0													16	19	18					1																	36564455		2195	4282	6477	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.827G>C	1.37:g.36564455C>G	ENSP00000380901:p.Gly276Ala		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G276A	ENST00000397799.1	37	c.827	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534302	0.45073	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97850	-4.57;-4.57;-4.57	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99239	1.0884	10	0.59425	D	0.04	.	15.9203	0.79562	0.0:1.0:0.0:0.0	.	276	P25067	CO8A2_HUMAN	A	276;276;211	ENSP00000305913:G276A;ENSP00000380901:G276A;ENSP00000436433:G211A	ENSP00000305913:G276A	G	-	2	0	COL8A2	36337042	1.000000	0.71417	0.974000	0.42286	0.786000	0.44442	5.873000	0.69644	1.971000	0.57363	0.407000	0.27541	GGA	COL8A2	-	NULL		0.706	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	HGNC	protein_coding	OTTHUMT00000313674.1	C	NM_005202		36564455	-1	no_errors	ENST00000303143	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36564455	C	G	36564455	3	3	151	1	0	0	0	0	1	0	0	0	3711	855	30	1	1288	1	COL8A2	1	36564455	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	956	36564455	212686166	28	24661										
MTF1	4520	genome.wustl.edu	37	chr1	38289467	38289467	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attgctggtgaaattgtgctGaggtcctggccctgggtctg	15	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:38289467G>C	ENST00000373036.4	-	8	1226	c.1086C>G	c.(1084-1086)ctC>ctG	p.L362L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	362					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATTGTGCTGAGGTCCTGGC	0.448																																																	0													144	120	128					1																	38289467		2203	4300	6503	SO:0001819	synonymous_variant	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1086C>G	1.37:g.38289467G>C			B2RAK6|Q96CB1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L362	ENST00000373036.4	37	c.1086	CCDS30676.1	1																																																																																			MTF1	-	NULL		0.448	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	G	NM_005955		38289467	-1	no_errors	ENST00000373036	ensembl	human	known	70_37	silent	SNP	1.000	C	C	38289467	G	C	38289467	2	2	151	1	0	0	0	0	0	0	0	1	9945	1277	45	1		1	MTF1	1	38289467	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1725012	38289467	210961154	29	24662										
GJA9	81025	genome.wustl.edu	37	chr1	39340261	39340261	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggaacccgcctaccaatgaGattgttcgttagggacacta	11	10	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39340261G>C	ENST00000360786.3	-	1	1762	c.1510C>G	c.(1510-1512)Ctc>Gtc	p.L504V	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.L504V|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	504					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTACCAATGAGATTGTTCGTT	0.463																																																	0													82	82	82					1																	39340261		2203	4300	6503	SO:0001583	missense	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1510C>G	1.37:g.39340261G>C	ENSP00000354020:p.Leu504Val		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L504V	ENST00000360786.3	37	c.1510	CCDS432.1	1	.	.	.	.	.	.	.	.	.	.	G	6.374	0.437146	0.12104	.	.	ENSG00000131233	ENST00000357771;ENST00000360786	D;D	0.97328	-4.34;-4.34	4.02	-4.42	0.03579	.	2.212140	0.02124	U	0.055889	D	0.89808	0.6822	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.83921	0.0301	10	0.21540	T	0.41	.	1.1985	0.01880	0.226:0.381:0.1714:0.2217	.	504	P57773	CXA9_HUMAN	V	504	ENSP00000350415:L504V;ENSP00000354020:L504V	ENSP00000350415:L504V	L	-	1	0	GJA9	39112848	0.191000	0.23288	0.000000	0.03702	0.155000	0.21991	0.472000	0.22116	-0.669000	0.05289	-0.251000	0.11542	CTC	GJA9	-	NULL		0.463	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39340261	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	missense	SNP	0.203	C	C	39340261	G	C	39340261	3	2	151	1	0	0	0	0	1	0	0	0	6425	942	33	1	41	1	GJA9	1	39340261	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1050794	39340261	209910360	30	24663										
GJA9	81025	genome.wustl.edu	37	chr1	39340415	39340415	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtgaaggaggaagggttctGactgtgccctttctgaactg	14	7	2	3	rs550315317		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39340415G>C	ENST00000360786.3	-	1	1608	c.1356C>G	c.(1354-1356)gtC>gtG	p.V452V	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.V452V|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	452					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GAAGGGTTCTGACTGTGCCCT	0.512																																																	0													128	125	126					1																	39340415		2203	4300	6503	SO:0001819	synonymous_variant	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1356C>G	1.37:g.39340415G>C			B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.V452	ENST00000360786.3	37	c.1356	CCDS432.1	1																																																																																			GJA9	-	NULL		0.512	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39340415	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	silent	SNP	0.001	C	C	39340415	G	C	39340415	2	2	151	1	0	0	0	0	0	0	0	1	6425	1277	45	1		1	GJA9	1	39340415	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	154	39340415	209910206	31	24664										
MACF1	23499	genome.wustl.edu	37	chr1	39751356	39751356	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attcaggagtgtgaaggtctCatcaggcagctgcaggtgga	15	7	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39751356C>G	ENST00000372915.3	+	13	1536	c.1449C>G	c.(1447-1449)ctC>ctG	p.L483L	MACF1_ENST00000361689.2_Silent_p.L483L|MACF1_ENST00000539005.1_Silent_p.L483L|MACF1_ENST00000567887.1_Silent_p.L515L|MACF1_ENST00000545844.1_Silent_p.L483L|MACF1_ENST00000564288.1_Silent_p.L478L|MACF1_ENST00000317713.7_Silent_p.L483L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	483					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAAGGTCTCATCAGGCAGC	0.488																																																	0													106	94	98					1																	39751356		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1449C>G	1.37:g.39751356C>G			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L483	ENST00000372915.3	37	c.1449		1																																																																																			MACF1	-	NULL		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39751356	1	no_errors	ENST00000317713	ensembl	human	known	70_37	silent	SNP	0.996	G	G	39751356	C	G	39751356	2	3	151	1	0	0	0	0	0	0	0	1	9167	813	29	1		1	MACF1	1	39751356	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	410941	39751356	209499265	32	24665										
KIAA0754	643314	genome.wustl.edu	37	chr1	39877348	39877348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcagatgtttcttgaacttGaaaaggagtgtttatgtgaa	11	3	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39877348G>C	ENST00000530275.1	+	1	1198	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	335										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTTGAACTTGAAAAGGAGTG	0.438											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119	115	116					1																	39877348		1911	4132	6043	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1003G>C	1.37:g.39877348G>C	ENSP00000431179:p.Glu335Gln	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.E335Q	ENST00000530275.1	37	c.1003		1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773147	0.90108	.	.	ENSG00000255103	ENST00000530275	D	0.86497	-2.13	5.14	5.14	0.70334	.	.	.	.	.	D	0.90133	0.6917	L	0.27053	0.805	0.28447	N	0.916506	D	0.89917	1.0	D	0.87578	0.998	D	0.85948	0.1462	9	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	335	O94854	K0754_HUMAN	Q	335	ENSP00000431179:E335Q	ENSP00000431179:E335Q	E	+	1	0	RP4-562N20.1	39649935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.617000	0.83032	2.398000	0.81561	0.655000	0.94253	GAA	KIAA0754	-	NULL		0.438	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39877348	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39877348	G	C	39877348	3	2	151	1	0	0	0	0	1	0	0	0	8212	1291	45	1	1413	1	KIAA0754	1	39877348	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	125992	39877348	209373273	33	24666										
NT5C1A	84618	genome.wustl.edu	37	chr1	40125018	40125018	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggccccagctgcgcagggtCttgagagcccgggccccgga	16	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:40125018C>G	ENST00000235628.1	-	6	881	c.882G>C	c.(880-882)aaG>aaC	p.K294N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	294					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCGCAGGGTCTTGAGAGCCC	0.597																																																	0													52	62	59					1																	40125018		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.882G>C	1.37:g.40125018C>G	ENSP00000235628:p.Lys294Asn		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.K294N	ENST00000235628.1	37	c.882	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276366	0.80580	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.66492	-0.5910	9	0.36615	T	0.2	-8.6224	12.5831	0.56401	0.0:0.9238:0.0:0.0762	.	294	Q9BXI3	5NT1A_HUMAN	N	294	.	ENSP00000235628:K294N	K	-	3	2	NT5C1A	39897605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	2.624000	0.88883	0.655000	0.94253	AAG	NT5C1A	-	pfam_5-nucleotidase		0.597	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	C	NM_032526		40125018	-1	no_errors	ENST00000235628	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40125018	C	G	40125018	3	3	151	1	0	0	0	0	1	0	0	0	10709	912	32	1	228	1	NT5C1A	1	40125018	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	247670	40125018	209125603	34	24667										
PTCH2	8643	genome.wustl.edu	37	chr1	45293982	45293982	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagtacctggagaagcagcaGagcacatcaaggcgctggca	13	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:45293982G>C	ENST00000372192.3	-	13	1825	c.1695C>G	c.(1693-1695)ctC>ctG	p.L565L	PTCH2_ENST00000447098.2_Silent_p.L565L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	565					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGAAGCAGCAGAGCACATCAA	0.627									Basal Cell Nevus syndrome																																								0													54	55	55					1																	45293982		2203	4300	6503	SO:0001819	synonymous_variant	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1695C>G	1.37:g.45293982G>C			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L565	ENST00000372192.3	37	c.1695	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.627	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45293982	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	silent	SNP	1.000	C	C	45293982	G	C	45293982	2	2	151	1	0	0	0	0	0	0	0	1	12758	929	33	1		1	PTCH2	1	45293982	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5168964	45293982	203956639	35	24668										
PIK3R3	8503	genome.wustl.edu	37	chr1	46546420	46546420	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttaggtggctttggtggaaGagctagaagagaaatgaata	14	3	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:46546420G>A	ENST00000262741.5	-	2	798	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	PIK3R3_ENST00000540385.1_Missense_Mutation_p.L83F|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L37F|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L37F|PIK3R3_ENST00000354242.4_Missense_Mutation_p.L37F|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L37F	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	37	Pro-rich.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTTGGTGGAAGAGCTAGAAGA	0.393																																																	0													198	208	204					1																	46546420		2203	4300	6503	SO:0001583	missense	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.109C>T	1.37:g.46546420G>A	ENSP00000262741:p.Leu37Phe		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L83F	ENST00000262741.5	37	c.247	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400497	0.62177	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	T;T;T;D;D;D;T	0.82803	-1.49;-1.49;-1.49;-1.65;-1.53;-1.65;0.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	M	0.76838	2.35	0.80722	D	1	D;P;B;P	0.89917	1.0;0.899;0.402;0.868	D;B;B;B	0.85130	0.997;0.436;0.165;0.312	D	0.91353	0.5106	10	0.52906	T	0.07	.	17.591	0.87997	0.0:0.0:1.0:0.0	.	83;70;37;37	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	F	37;37;37;37;83;37;37	ENSP00000361075:L37F;ENSP00000262741:L37F;ENSP00000412546:L37F;ENSP00000346188:L37F;ENSP00000439913:L83F;ENSP00000391431:L37F;ENSP00000416647:L37F	ENSP00000262741:L37F	L	-	1	0	PIK3R3	46319007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.543000	0.82106	2.521000	0.84997	0.467000	0.42956	CTT	PIK3R3	-	NULL		0.393	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	G	NM_003629		46546420	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46546420	G	A	46546420	3	1	151	1	0	0	0	0	1	0	0	0	11944	942	33	1	1312	1	PIK3R3	1	46546420	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1252438	46546420	202704201	36	24669										
LRRC41	10489	genome.wustl.edu	37	chr1	46746968	46746968	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggcagtggtgagaacaggtCactgagatgcagggcacgga	18	7	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:46746968C>T	ENST00000343304.6	-	5	1870	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	529					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGAACAGGTCACTGAGATGC	0.612																																																	0													77	63	68					1																	46746968		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1585G>A	1.37:g.46746968C>T	ENSP00000343298:p.Asp529Asn		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D529N	ENST00000343304.6	37	c.1585	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.141762	0.94560	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.51817	0.69	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.27053	0.805	0.46499	D	0.999072	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.57142	-0.7862	10	0.39692	T	0.17	-14.3396	19.2258	0.93817	0.0:1.0:0.0:0.0	.	529;529	Q15345-3;Q15345	.;LRC41_HUMAN	N	529;507	ENSP00000343298:D529N	ENSP00000343298:D529N	D	-	1	0	LRRC41	46519555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.098000	0.64548	2.548000	0.85928	0.557000	0.71058	GAC	LRRC41	-	NULL		0.612	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46746968	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46746968	C	T	46746968	3	4	151	1	0	0	0	0	1	0	0	0	9022	826	29	1	877	1	LRRC41	1	46746968	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	200548	46746968	202503653	37	24670										
MOBKL2C	148932	genome.wustl.edu	37	chr1	47078756	47078756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctggtctcactgcagcgctCcgccatagtgccgtagatga	12	13	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:47078756C>T	ENST00000319928.3	-	2	468	c.238G>A	c.(238-240)Gag>Aag	p.E80K	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.E132K|MOB3C_ENST00000371940.1_Missense_Mutation_p.E103K|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	80							metal ion binding (GO:0046872)										CTGCAGCGCTCCGCCATAGTG	0.662																																																	0													81	61	68					1																	47078756		2203	4300	6503	SO:0001583	missense	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.238G>A	1.37:g.47078756C>T	ENSP00000315113:p.Glu80Lys		D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.E132K	ENST00000319928.3	37	c.394	CCDS540.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509545	0.85282	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.90705	3.14	0.80722	D	1	P	0.42337	0.776	P	0.52189	0.692	D	0.85869	0.1415	9	0.87932	D	0	-38.9417	17.8765	0.88826	0.0:1.0:0.0:0.0	.	80	Q70IA8	MOB3C_HUMAN	K	80;132;103	.	ENSP00000271139:E132K	E	-	1	0	MOBKL2C	46851343	1.000000	0.71417	0.902000	0.35471	0.296000	0.27459	7.805000	0.86005	2.467000	0.83353	0.563000	0.77884	GAG	MOB3C	-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.662	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		C	NM_145279		47078756	-1	no_errors	ENST00000271139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47078756	C	T	47078756	3	4	151	1	0	0	0	0	1	0	0	0	9709	864	30	1	424	1	MOBKL2C	1	47078756	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	331788	47078756	202171865	38	24671										
CYP4B1	1580	genome.wustl.edu	37	chr1	47278271	47278271	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagccctatgtggccgtgttCactgagtctacacgtatcat	9	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:47278271C>T	ENST00000271153.4	+	4	507	c.471C>T	c.(469-471)ttC>ttT	p.F157F	CYP4B1_ENST00000371919.4_Silent_p.F142F|CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371923.4_Silent_p.F157F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	157					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGGCCGTGTTCACTGAGTCTA	0.577																																																	0													164	136	146					1																	47278271		2203	4300	6503	SO:0001819	synonymous_variant	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.471C>T	1.37:g.47278271C>T			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F157	ENST00000271153.4	37	c.471	CCDS542.1	1																																																																																			CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	C	NM_000779		47278271	1	no_errors	ENST00000371923	ensembl	human	known	70_37	silent	SNP	0.000	T	T	47278271	C	T	47278271	2	4	151	1	0	0	0	0	0	0	0	1	4190	825	29	1		1	CYP4B1	1	47278271	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	199515	47278271	201972350	39	24672										
HSPB11	51668	genome.wustl.edu	37	chr1	54387427	54387427	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgaatctcaagtaagtagcgGagccatcatgtgcctgtatg	11	8	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:54387427G>C	ENST00000194214.5	-	6	721	c.332C>G	c.(331-333)tCc>tGc	p.S111C	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	111					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GTAAGTAGCGGAGCCATCATG	0.378																																																	0													103	94	97					1																	54387427		1876	4117	5993	SO:0001583	missense	51668			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"Intraflagellar transport homologs", "Heat shock proteins / HSPB"	25019	protein-coding gene	gene with protein product	"intraflagellar transport 25 homolog (Chlamydomonas)"		"chromosome 1 open reading frame 41"	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.332C>G	1.37:g.54387427G>C	ENSP00000194214:p.Ser111Cys		A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.S111C	ENST00000194214.5	37	c.332	CCDS41341.1	1	.	.	.	.	.	.	.	.	.	.	G	3.699	-0.061897	0.07317	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81247	-1.47;-1.47	5.46	1.77	0.24775	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.744864	0.12988	N	0.422717	T	0.71804	0.3383	N	0.24115	0.695	0.09310	N	0.999999	B	0.33448	0.412	B	0.39617	0.305	T	0.60403	-0.7270	10	0.42905	T	0.14	-21.0273	11.5509	0.50721	0.0:0.0:0.5408:0.4592	.	111	Q9Y547	HSB11_HUMAN	C	111	ENSP00000194214:S111C;ENSP00000360429:S111C	ENSP00000194214:S111C	S	-	2	0	HSPB11	54160015	0.089000	0.21612	0.063000	0.19743	0.055000	0.15305	0.340000	0.19892	0.048000	0.15891	-0.274000	0.10170	TCC	HSPB11	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.378	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB11	HGNC	protein_coding	OTTHUMT00000023114.1	G	NM_016126		54387427	-1	no_errors	ENST00000194214	ensembl	human	known	70_37	missense	SNP	0.088	C	C	54387427	G	C	54387427	3	2	151	1	0	0	0	0	1	0	0	0	7439	1174	41	1	106	1	HSPB11	1	54387427	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7109156	54387427	194863194	40	24673										
FAM151A	338094	genome.wustl.edu	37	chr1	55078239	55078239	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtacagggaaggtgaccctCtggggcactcctcccaccag	12	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:55078239C>G	ENST00000302250.2	-	5	880	c.720G>C	c.(718-720)caG>caC	p.Q240H	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.Q240H	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	240						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGTGACCCTCTGGGGCACTC	0.602																																																	0													106	95	99					1																	55078239		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.720G>C	1.37:g.55078239C>G	ENSP00000306888:p.Gln240His		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.Q240H	ENST00000302250.2	37	c.720	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759204	0.49468	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.14266	2.52;2.52	4.34	3.42	0.39159	.	0.000000	0.64402	D	0.000004	T	0.35998	0.0951	M	0.83312	2.635	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.12372	-1.0550	10	0.62326	D	0.03	-24.5671	8.3929	0.32540	0.0:0.8147:0.0:0.1853	.	240	Q8WW52	F151A_HUMAN	H	240	ENSP00000306888:Q240H;ENSP00000360353:Q240H	ENSP00000294370:Q240H	Q	-	3	2	FAM151A	54850827	1.000000	0.71417	0.968000	0.41197	0.527000	0.34593	1.090000	0.30902	1.176000	0.42840	0.462000	0.41574	CAG	FAM151A	-	pfam_DUF2181		0.602	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	C	NM_176782		55078239	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55078239	C	G	55078239	3	3	151	1	0	0	0	0	1	0	0	0	5473	912	32	1	1053	1	FAM151A	1	55078239	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	690812	55078239	194172382	41	24674										
DHCR24	1718	genome.wustl.edu	37	chr1	55352682	55352682	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcgagagcggcaggaggaaGaggcacacgaacacccagcg	16	11	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:55352682G>C	ENST00000371269.3	-	1	209	c.111C>G	c.(109-111)ctC>ctG	p.L37L	DHCR24_ENST00000535035.1_5'Flank|RP11-67L3.4_ENST00000455380.1_RNA|RP11-67L3.4_ENST00000443284.1_RNA|RP11-67L3.5_ENST00000415336.1_RNA|RP11-67L3.4_ENST00000436033.1_RNA|RP11-67L3.4_ENST00000433690.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	37					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGGAGGAAGAGGCACACGA	0.647																																					Pancreas(39;516 1021 24601 30715 32780)												0													52	51	51					1																	55352682		2203	4300	6503	SO:0001819	synonymous_variant	1718			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.111C>G	1.37:g.55352682G>C			B7Z817|D3DQ51|Q9HBA8	Silent	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.L37	ENST00000371269.3	37	c.111	CCDS600.1	1																																																																																			DHCR24	-	superfamily_FAD-bd_2		0.647	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	G	NM_014762		55352682	-1	no_errors	ENST00000371269	ensembl	human	known	70_37	silent	SNP	1.000	C	C	55352682	G	C	55352682	2	2	151	1	0	0	0	0	0	0	0	1	4486	929	33	1		1	DHCR24	1	55352682	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	274443	55352682	193897939	42	24675										
PRKAA2	5563	genome.wustl.edu	37	chr1	57161821	57161821	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccactgaaacgagcaactatCaaagacataaggtgattttt	7	8	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:57161821C>G	ENST00000371244.4	+	6	843	c.777C>G	c.(775-777)atC>atG	p.I259M		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GAGCAACTATCAAAGACATAA	0.388																																																	0													138	139	139					1																	57161821		2203	4300	6503	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.777C>G	1.37:g.57161821C>G	ENSP00000360290:p.Ile259Met		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I259M	ENST00000371244.4	37	c.777	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554610	0.65425	.	.	ENSG00000162409	ENST00000371244	T	0.67698	-0.28	5.98	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	L	0.31752	0.955	0.80722	D	1	P	0.36495	0.556	P	0.50590	0.645	T	0.68671	-0.5347	10	0.59425	D	0.04	-14.2246	10.6125	0.45429	0.1329:0.799:0.0:0.0681	.	259	P54646	AAPK2_HUMAN	M	259	ENSP00000360290:I259M	ENSP00000360290:I259M	I	+	3	3	PRKAA2	56934409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.866000	0.48420	1.542000	0.49330	0.655000	0.94253	ATC	PRKAA2	-	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		0.388	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	C	NM_006252		57161821	1	no_errors	ENST00000371244	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57161821	C	G	57161821	3	3	151	1	0	0	0	0	1	0	0	0	12521	816	29	1	799	1	PRKAA2	1	57161821	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1809139	57161821	192088800	43	24676										
C1orf87	127795	genome.wustl.edu	37	chr1	60463473	60463473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agagctttctggctgcagctCctcttctggagttttctacc	9	12	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:60463473C>T	ENST00000371201.3	-	11	1395	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	C1orf87_ENST00000450089.2_Missense_Mutation_p.E201K|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.E64K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	430							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTGCAGCTCCTCTTCTGGA	0.488																																					NSCLC(75;811 1386 4923 13371 51772)												0													58	58	58					1																	60463473		2203	4300	6503	SO:0001583	missense	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1288G>A	1.37:g.60463473C>T	ENSP00000360244:p.Glu430Lys		Q6ZU07|Q8IVS0	Missense_Mutation	SNP	NULL	p.E430K	ENST00000371201.3	37	c.1288	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899554	0.33535	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.33865	2.18;1.39	5.21	0.459	0.16678	.	0.702315	0.12853	N	0.433742	T	0.16727	0.0402	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.21381	-1.0247	10	0.27785	T	0.31	-0.9994	4.012	0.09627	0.0:0.4717:0.1731:0.3552	.	430	Q8N0U7	CA087_HUMAN	K	430;64;201	ENSP00000360244:E430K;ENSP00000378921:E64K	ENSP00000360244:E430K	E	-	1	0	C1orf87	60236061	0.005000	0.15991	0.035000	0.18076	0.939000	0.58152	0.237000	0.17985	-0.067000	0.12976	0.650000	0.86243	GAG	C1orf87	-	NULL		0.488	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1	C	NM_152377		60463473	-1	no_errors	ENST00000371201	ensembl	human	known	70_37	missense	SNP	0.035	T	T	60463473	C	T	60463473	3	4	151	1	0	0	0	0	1	0	0	0	2069	864	30	1	360	1	C1orf87	1	60463473	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3301652	60463473	188787148	44	24677										
LEPR	3953	genome.wustl.edu	37	chr1	66036294	66036294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcaaagaatacttcaaattCgaatggacattatgagacag	7	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:66036294C>G	ENST00000349533.6	+	4	364	c.179C>G	c.(178-180)tCg>tGg	p.S60W	LEPR_ENST00000371060.3_Missense_Mutation_p.S60W|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371059.3_Missense_Mutation_p.S60W|LEPR_ENST00000344610.8_Missense_Mutation_p.S60W|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.S60W	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACTTCAAATTCGAATGGACAT	0.383																																																	0													123	121	122					1																	66036294		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.179C>G	1.37:g.66036294C>G	ENSP00000330393:p.Ser60Trp		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S60W	ENST00000349533.6	37	c.179	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934824	0.34189	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55588	0.53;0.54;0.53;0.51;0.53	5.41	-3.54	0.04653	.	2.060570	0.01789	N	0.032190	T	0.32704	0.0838	N	0.19112	0.55	0.09310	N	0.999998	D;D;D;D	0.67145	0.972;0.97;0.982;0.996	P;B;P;P	0.60415	0.662;0.404;0.723;0.874	T	0.24870	-1.0148	10	0.62326	D	0.03	3.2094	5.8506	0.18691	0.0:0.3276:0.3199:0.3525	.	60;60;60;60	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	W	60	ENSP00000340884:S60W;ENSP00000330393:S60W;ENSP00000360099:S60W;ENSP00000360098:S60W;ENSP00000360097:S60W	ENSP00000340884:S60W	S	+	2	0	LEPR	65808882	0.000000	0.05858	0.000000	0.03702	0.609000	0.37215	-0.592000	0.05747	-0.574000	0.05990	-0.501000	0.04562	TCG	LEPR	-	NULL		0.383	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66036294	1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.000	G	G	66036294	C	G	66036294	3	3	151	1	0	0	0	0	1	0	0	0	8748	893	31	1	185	1	LEPR	1	66036294	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5572821	66036294	183214327	45	24678										
ASB17	127247	genome.wustl.edu	37	chr1	76397629	76397629	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgaacatagtcttttgtcttCttgagaagcaattccacaaa	6	8	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:76397629C>T	ENST00000284142.6	-	1	487	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	116					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CTTTTGTCTTCTTGAGAAGCA	0.333																																																	0													62	61	61					1																	76397629		2203	4299	6502	SO:0001819	synonymous_variant	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.348G>A	1.37:g.76397629C>T			B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.K116	ENST00000284142.6	37	c.348	CCDS671.1	1																																																																																			ASB17	-	superfamily_Ankyrin_rpt-contain_dom		0.333	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	C	NM_080868		76397629	-1	no_errors	ENST00000284142	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76397629	C	T	76397629	2	4	151	1	0	0	0	0	0	0	0	1	1022	912	32	1		1	ASB17	1	76397629	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10361335	76397629	172852992	46	24679										
LPHN2	23266	genome.wustl.edu	37	chr1	82372833	82372833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctaactatggtcggacggatGacaagatttgtgatgctgac	12	7	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:82372833G>A	ENST00000370728.1	+	6	850	c.205G>A	c.(205-207)Gac>Aac	p.D69N	LPHN2_ENST00000370721.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D69N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D69N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D69N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D69N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D69N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.D69N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D69N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D69N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D69N			O95490	LPHN2_HUMAN	latrophilin 2	69	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCGGACGGATGACAAGATTTG	0.443																																																	0													173	158	163					1																	82372833		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.205G>A	1.37:g.82372833G>A	ENSP00000359763:p.Asp69Asn		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D69N	ENST00000370728.1	37	c.205		1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000535	0.93227	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.1	4.19	0.49359	.	0.054132	0.64402	N	0.000001	T	0.13543	0.0328	N	0.13327	0.33	0.58432	D	0.999999	P;P;D;P	0.56287	0.773;0.856;0.975;0.824	P;P;D;D	0.65684	0.679;0.538;0.937;0.916	T	0.10474	-1.0628	10	0.49607	T	0.09	.	13.5144	0.61533	0.0756:0.0:0.9244:0.0	.	69;69;69;69	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	N	69	ENSP00000359756:D69N;ENSP00000359763:D69N;ENSP00000359765:D69N;ENSP00000359762:D69N;ENSP00000359760:D69N;ENSP00000359758:D69N;ENSP00000353006:D69N;ENSP00000359750:D69N;ENSP00000359748:D69N;ENSP00000322270:D69N;ENSP00000359752:D69N;ENSP00000378344:D69N;ENSP00000271029:D69N;ENSP00000337306:D69N	ENSP00000271029:D69N	D	+	1	0	LPHN2	82145421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.695000	0.98691	1.276000	0.44395	0.557000	0.71058	GAC	LPHN2	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.443	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	G	NM_012302		82372833	1	no_errors	ENST00000370717	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82372833	G	A	82372833	3	1	151	1	0	0	0	0	1	0	0	0	8939	1290	45	1	211	1	LPHN2	1	82372833	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5975204	82372833	166877788	47	24680										
SPATA1	0	genome.wustl.edu	37	chr1	85011415	85011415	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaacggttgaaaagctatttGaacaaagcaaattaaaacga	7	5	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:85011415G>C								SPATA1 (18844 upstream) : CTBS (3873 downstream)																							AAAGCTATTTGAACAAAGCAA	0.274																																																	0													54	51	52					1																	85011415		1787	4053	5840	SO:0001628	intergenic_variant	100505741																															1.37:g.85011415G>C				RNA	SNP	-	NULL		37	NULL		1																																																																																			SPATA1	-	-	0	0.274					SPATA1	HGNC			G			85011415	1	no_errors	ENST00000431031	ensembl	human	known	70_37	rna	SNP	1.000	C	C	85011415	G	C	85011415	1	2	151	0	1	0	0	0	0	0	0	0	15028	1291	45	1		1	SPATA1	1	85011415	IGR	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2638582	85011415	164239206	48	24681										
GBP7	388646	genome.wustl.edu	37	chr1	89637576	89637576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagatgccctttagtgttctCagtgaggcacactgggcctg	12	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:89637576C>G	ENST00000294671.2	-	2	181	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	15	GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTAGTGTTCTCAGTGAGGCAC	0.493																																																	0													138	135	136					1																	89637576		2203	4300	6503	SO:0001583	missense	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.43G>C	1.37:g.89637576C>G	ENSP00000294671:p.Glu15Gln			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.E15Q	ENST00000294671.2	37	c.43	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505980	0.26949	.	.	ENSG00000213512	ENST00000294671	T	0.62498	0.02	3.81	-1.8	0.07907	.	0.200733	0.40144	N	0.001177	T	0.39886	0.1095	M	0.92459	3.31	0.09310	N	1	P	0.41848	0.763	B	0.35312	0.2	T	0.48502	-0.9030	10	0.56958	D	0.05	.	1.4368	0.02345	0.1473:0.4343:0.1439:0.2746	.	15	Q8N8V2	GBP7_HUMAN	Q	15	ENSP00000294671:E15Q	ENSP00000294671:E15Q	E	-	1	0	GBP7	89410164	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.121000	0.10643	-0.694000	0.05113	0.563000	0.77884	GAG	GBP7	-	NULL		0.493	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	C	NM_207398		89637576	-1	no_errors	ENST00000294671	ensembl	human	known	70_37	missense	SNP	0.001	G	G	89637576	C	G	89637576	3	3	151	1	0	0	0	0	1	0	0	0	6298	835	29	1	1913	1	GBP7	1	89637576	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4626161	89637576	159613045	49	24682										
LRRC8C	84230	genome.wustl.edu	37	chr1	90152110	90152110	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgaagccatggtgggatgtGtttaccgattacctctcagt	11	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:90152110G>C	ENST00000370454.4	+	2	333	c.78G>C	c.(76-78)gtG>gtC	p.V26V	LRRC8C_ENST00000479252.1_3'UTR|RP11-302M6.4_ENST00000370453.5_Silent_p.V26V	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	26					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGTGGGATGTGTTTACCGATT	0.512																																																	0													167	150	156					1																	90152110		2203	4300	6503	SO:0001819	synonymous_variant	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.78G>C	1.37:g.90152110G>C			B3KXS9|Q29RV6|Q9H075	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V26	ENST00000370454.4	37	c.78	CCDS725.1	1																																																																																			LRRC8C	-	pfam_LRR_protein-8_N		0.512	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	G	NM_032270		90152110	1	no_errors	ENST00000370454	ensembl	human	known	70_37	silent	SNP	1.000	C	C	90152110	G	C	90152110	2	2	151	1	0	0	0	0	0	0	0	1	9046	1364	48	4		4	LRRC8C	1	90152110	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	514534	90152110	159098511	50	24683										
HFM1	164045	genome.wustl.edu	37	chr1	91784910	91784910	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcttgtgtcaaagcaaaatCttgtatgggaatgcatccta	8	7	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:91784910C>G	ENST00000370425.3	-	24	2718	c.2620G>C	c.(2620-2622)Gat>Cat	p.D874H	HFM1_ENST00000370424.3_Missense_Mutation_p.D553H|HFM1_ENST00000294696.5_Missense_Mutation_p.D106H|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	874	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D874N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAGCAAAATCTTGTATGGGA	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											113	108	109					1																	91784910		2203	4300	6503	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2620G>C	1.37:g.91784910C>G	ENSP00000359454:p.Asp874His		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D874H	ENST00000370425.3	37	c.2620	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.554967|4.554967	0.86231|0.86231	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.61040|.	0.14;0.14;0.14|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Sec63 domain (2);|.	0.052941|.	0.85682|.	D|.	0.000000|.	T|T	0.71736|0.71736	0.3375|0.3375	M|M	0.76727|0.76727	2.345|2.345	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.987;0.997;0.998|.	T|T	0.71935|0.71935	-0.4442|-0.4442	10|5	0.72032|.	D|.	0.01|.	.|.	18.6527|18.6527	0.91437|0.91437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	553;129;874|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	H|N	874;106;553;558|129	ENSP00000359454:D874H;ENSP00000294696:D106H;ENSP00000359453:D553H|.	ENSP00000294696:D106H|.	D|K	-|-	1|3	0|2	HFM1|HFM1	91557498|91557498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.776000|7.776000	0.85560|0.85560	2.467000|2.467000	0.83353|0.83353	0.650000|0.650000	0.86243|0.86243	GAT|AAG	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom		0.353	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91784910	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91784910	C	G	91784910	3	3	151	1	0	0	0	0	1	0	0	0	7103	913	32	1	1751	1	HFM1	1	91784910	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1632800	91784910	157465711	51	24684										
CCDC18	343099	genome.wustl.edu	37	chr1	93672937	93672937	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaactaagaagtttggaaaaGattatatcccagttgccagt	9	6	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:93672937G>T	ENST00000343253.7	+	9	1693	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	CCDC18_ENST00000338949.4_Missense_Mutation_p.K196N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.K397N|CCDC18_ENST00000557479.1_Missense_Mutation_p.K515N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	397										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GTTTGGAAAAGATTATATCCC	0.343																																																	0													75	72	73					1																	93672937		1824	4072	5896	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1191G>T	1.37:g.93672937G>T	ENSP00000343377:p.Lys397Asn		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K515N	ENST00000343253.7	37	c.1545		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.649086|1.649086	0.29336|0.29336	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.20200|.	2.09;2.09;2.09;2.09;2.09|.	5.73|5.73	0.676|0.676	0.17958|0.17958	.|.	0.390349|.	0.28371|.	N|.	0.015587|.	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.44542|0.44542	1.39|1.39	0.42996|0.42996	D|D	0.994504|0.994504	B;B|.	0.21147|.	0.003;0.052|.	B;B|.	0.14578|.	0.005;0.011|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.18710|.	T|.	0.47|.	.|.	1.7228|1.7228	0.02915|0.02915	0.4012:0.1512:0.318:0.1296|0.4012:0.1512:0.318:0.1296	.|.	397;515|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	N|I	397;397;515;196;117|451	ENSP00000343377:K397N;ENSP00000383808:K397N;ENSP00000451099:K515N;ENSP00000344380:K196N;ENSP00000391151:K117N|.	ENSP00000344380:K196N|.	K|R	+|+	3|2	2|0	CCDC18|CCDC18	93445525|93445525	0.210000|0.210000	0.23517|0.23517	0.994000|0.994000	0.49952|0.49952	0.658000|0.658000	0.38924|0.38924	0.067000|0.067000	0.14510|0.14510	0.122000|0.122000	0.18314|0.18314	-0.474000|-0.474000	0.04947|0.04947	AAG|AGA	CCDC18	-	NULL		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	G	NM_206886		93672937	1	no_errors	ENST00000557479	ensembl	human	known	70_37	missense	SNP	0.669	T	T	93672937	G	T	93672937	3	4	151	1	0	0	0	0	1	0	0	0	2799	933	33	3	1579	3	CCDC18	1	93672937	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1888027	93672937	155577684	52	24685										
ABCA4	24	genome.wustl.edu	37	chr1	94461721	94461721	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagagggaggtcatgactttCagtctgctgtttagcaaaat	11	7	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:94461721C>A	ENST00000370225.3	-	49	6846	c.6760G>T	c.(6760-6762)Gaa>Taa	p.E2254*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.E524*|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.E373*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2254					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCATGACTTTCAGTCTGCTGT	0.507																																																	0													81	79	80					1																	94461721		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6760G>T	1.37:g.94461721C>A	ENSP00000359245:p.Glu2254*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E2254*	ENST00000370225.3	37	c.6760	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748702	0.89753	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.76	5.76	0.90799	.	0.385420	0.29924	N	0.010860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9721	0.97287	0.0:1.0:0.0:0.0	.	.	.	.	X	1046;2254;524;373	.	ENSP00000359245:E2254X	E	-	1	0	ABCA4	94234309	1.000000	0.71417	0.993000	0.49108	0.090000	0.18270	7.453000	0.80700	2.724000	0.93272	0.462000	0.41574	GAA	ABCA4	-	tigrfam_Rim_ABC_transpt		0.507	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94461721	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	94461721	C	A	94461721	4	1	151	1	0	0	0	0	0	1	0	0	34	835	29	3	69	3	ABCA4	1	94461721	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	788784	94461721	154788900	53	24686										
PTBP2	58155	genome.wustl.edu	37	chr1	97278931	97278931	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttggagaaaaccatcatctGagagtgtctttctccaagtc	8	10	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:97278931G>C	ENST00000426398.2	+	14	1609	c.1566G>C	c.(1564-1566)ctG>ctC	p.L522L	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000394184.3_Silent_p.L539L|PTBP2_ENST00000370197.1_Silent_p.L528L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.L523L|PTBP2_ENST00000370198.1_Silent_p.L527L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	522	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ACCATCATCTGAGAGTGTCTT	0.378																																																	0													63	70	68					1																	97278931		2203	4299	6502	SO:0001819	synonymous_variant	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1566G>C	1.37:g.97278931G>C			Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L539	ENST00000426398.2	37	c.1617	CCDS754.1	1																																																																																			PTBP2	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.378	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	G			97278931	1	no_errors	ENST00000394184	ensembl	human	known	70_37	silent	SNP	1.000	C	C	97278931	G	C	97278931	2	2	151	1	0	0	0	0	0	0	0	1	12753	1277	45	1		1	PTBP2	1	97278931	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2817210	97278931	151971690	54	24687										
PALMD	54873	genome.wustl.edu	37	chr1	100152712	100152712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggttaaggaaggagataaatGaagaaaaagaagatgatgaa	13	0	0	7			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:100152712G>A	ENST00000263174.4	+	6	856	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	PALMD_ENST00000605497.1_Missense_Mutation_p.E161K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	161					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGATAAATGAAGAAAAAGA	0.323																																																	0													75	83	80					1																	100152712		2200	4297	6497	SO:0001583	missense	54873			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.481G>A	1.37:g.100152712G>A	ENSP00000263174:p.Glu161Lys		Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	pfam_Paralemmin	p.E161K	ENST00000263174.4	37	c.481	CCDS758.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732777	0.30684	.	.	ENSG00000099260	ENST00000263174	T	0.16457	2.34	5.63	4.71	0.59529	.	0.475856	0.22398	N	0.060591	T	0.03959	0.0111	N	0.21448	0.665	0.33210	D	0.553262	B;B	0.16802	0.006;0.019	B;B	0.17433	0.018;0.011	T	0.30736	-0.9968	10	0.10902	T	0.67	-15.4098	10.7246	0.46061	0.0712:0.1334:0.7954:0.0	.	161;81	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	K	161	ENSP00000263174:E161K	ENSP00000263174:E161K	E	+	1	0	PALMD	99925300	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.172000	0.42463	2.826000	0.97356	0.655000	0.94253	GAA	PALMD	-	pfam_Paralemmin		0.323	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	G	NM_017734		100152712	1	no_errors	ENST00000263174	ensembl	human	known	70_37	missense	SNP	0.997	A	A	100152712	G	A	100152712	3	1	151	1	0	0	0	0	1	0	0	0	11435	1291	45	1	503	1	PALMD	1	100152712	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2873781	100152712	149097909	55	24688										
WDR47	22911	genome.wustl.edu	37	chr1	109553686	109553686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggtctgaaattctcttatCatgactggttagtccacagg	9	8	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:109553686C>T	ENST00000369962.3	-	5	1204	c.982G>A	c.(982-984)Gat>Aat	p.D328N	WDR47_ENST00000357672.3_Missense_Mutation_p.D300N|WDR47_ENST00000361054.3_Missense_Mutation_p.D300N|WDR47_ENST00000400794.3_Missense_Mutation_p.D335N|WDR47_ENST00000369965.4_Missense_Mutation_p.D328N			O94967	WDR47_HUMAN	WD repeat domain 47	328					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTCTCTTATCATGACTGGTT	0.443																																																	0													211	234	226					1																	109553686		2203	4296	6499	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.982G>A	1.37:g.109553686C>T	ENSP00000358979:p.Asp328Asn		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D335N	ENST00000369962.3	37	c.1003	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981243	0.53827	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55588	0.51;0.55;0.51;0.51;0.51	5.33	5.33	0.75918	.	0.110726	0.64402	D	0.000018	T	0.31358	0.0794	N	0.22421	0.69	0.51767	D	0.999937	B;B;B;B	0.32245	0.241;0.321;0.321;0.361	B;B;B;B	0.37304	0.196;0.136;0.136;0.246	T	0.15867	-1.0422	10	0.25106	T	0.35	-10.2755	19.0191	0.92906	0.0:1.0:0.0:0.0	.	300;335;328;328	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	N	335;328;300;328;300	ENSP00000383599:D335N;ENSP00000358979:D328N;ENSP00000354339:D300N;ENSP00000358982:D328N;ENSP00000350301:D300N	ENSP00000350301:D300N	D	-	1	0	WDR47	109355209	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	7.487000	0.81328	2.479000	0.83701	0.467000	0.42956	GAT	WDR47	-	NULL		0.443	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	C	NM_014969		109553686	-1	no_errors	ENST00000400794	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109553686	C	T	109553686	3	4	151	1	0	0	0	0	1	0	0	0	17331	826	29	1	1824	1	WDR47	1	109553686	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9400974	109553686	139696935	56	24689										
KIAA1324	57535	genome.wustl.edu	37	chr1	109731732	109731732	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgaacctgctgtgggatttGaatacaaatggtggaacacg	12	7	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:109731732G>A	ENST00000369939.3	+	10	1447	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E335K|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	422					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGTGGGATTTGAATACAAATG	0.522																																																	0													112	97	102					1																	109731732		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1264G>A	1.37:g.109731732G>A	ENSP00000358955:p.Glu422Lys		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E422K	ENST00000369939.3	37	c.1264	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.575933	0.96553	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.54479	0.57;0.57;0.57	5.12	5.12	0.69794	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.996;0.987;0.987	T	0.64744	-0.6335	10	0.42905	T	0.14	-15.9179	17.4771	0.87662	0.0:0.0:1.0:0.0	.	422;335;422;422	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	K	422;372;335	ENSP00000358955:E422K;ENSP00000393964:E372K;ENSP00000434595:E335K	ENSP00000358955:E422K	E	+	1	0	KIAA1324	109533255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.625000	0.98406	2.669000	0.90835	0.561000	0.74099	GAA	KIAA1324	-	superfamily_Growth_fac_rcpt		0.522	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	G	NM_020775		109731732	1	no_errors	ENST00000369939	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109731732	G	A	109731732	3	1	151	1	0	0	0	0	1	0	0	0	8243	1291	45	1	1302	1	KIAA1324	1	109731732	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	178046	109731732	139518889	57	24690										
GNAT2	2780	genome.wustl.edu	37	chr1	110148947	110148947	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacctgaaattcaagtctttGacggaaaacttggtttcaat	7	7	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:110148947G>C	ENST00000351050.3	-	5	759	c.573C>G	c.(571-573)gtC>gtG	p.V191V		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	191					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCAAGTCTTTGACGGAAAACT	0.483																																																	0													144	131	135					1																	110148947		2203	4300	6503	SO:0001819	synonymous_variant	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.573C>G	1.37:g.110148947G>C				Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.V191	ENST00000351050.3	37	c.573	CCDS803.1	1																																																																																			GNAT2	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I		0.483	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	G	NM_005272		110148947	-1	no_errors	ENST00000351050	ensembl	human	known	70_37	silent	SNP	1.000	C	C	110148947	G	C	110148947	2	2	151	1	0	0	0	0	0	0	0	1	6531	1277	45	1		1	GNAT2	1	110148947	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	417215	110148947	139101674	58	24691										
ADORA3	5906	genome.wustl.edu	37	chr1	112106482	112106482	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actcactgtgactcaggactCaagcagcccagtgtccagtc	9	14	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:112106482C>G	ENST00000356415.1	+	1	292				ADORA3_ENST00000369717.4_Missense_Mutation_p.L31F			P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family						activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		ACTCAGGACTCAAGCAGCCCA	0.527																																																	0													118	117	118					1																	112106482		1965	4154	6119	SO:0001627	intron_variant	140			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000356415.1:c.-28+21351C>G	1.37:g.112106482C>G			P10113	Missense_Mutation	SNP	NULL	p.L31F	ENST00000356415.1	37	c.93	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.448738	0.00178	.	.	ENSG00000121933	ENST00000369717;ENST00000355437;ENST00000443498	T	0.21361	2.01	3.54	-7.07	0.01563	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.21753	0.06	B	0.18263	0.021	T	0.34079	-0.9843	9	0.02654	T	1	.	0.9396	0.01352	0.2215:0.1307:0.3089:0.3389	.	31	Q5QNY7	.	F	31;31;25	ENSP00000358731:L31F	ENSP00000347612:L31F	L	-	3	2	ADORA3	111908005	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.300000	0.01138	-2.527000	0.00494	-1.464000	0.01018	TTG	ADORA3	-	NULL		0.527	RAP1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033072.1	C	NM_002884		112106482	-1	no_errors	ENST00000369717	ensembl	human	known	70_37	missense	SNP	0.000	G	G	112106482	C	G	112106482	1	3	151	0	1	0	0	0	0	0	0	0	329	825	29	1		1	ADORA3	1	112106482	Intron	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1957535	112106482	137144139	59	24692										
AP4B1	10717	genome.wustl.edu	37	chr1	114438460	114438460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttagagatagttgcccagtGggctttgccatacactggca	11	9	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:114438460G>A	ENST00000369569.1	-	9	1991	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	AP4B1_ENST00000369567.1_Missense_Mutation_p.H403Y|AP4B1_ENST00000256658.4_Missense_Mutation_p.H571Y|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	571					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCCCAGTGGGCTTTGCCA	0.507																																																	0													76	77	76					1																	114438460		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1711C>T	1.37:g.114438460G>A	ENSP00000358582:p.His571Tyr		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.H571Y	ENST00000369569.1	37	c.1711	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014872	0.19355	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.12672	2.66;2.66;2.66	5.71	4.61	0.57282	Armadillo-type fold (1);	0.674756	0.16480	N	0.212582	T	0.04724	0.0128	N	0.14661	0.345	0.80722	D	1	B;B;B	0.16396	0.017;0.01;0.017	B;B;B	0.22753	0.041;0.007;0.034	T	0.27536	-1.0071	10	0.40728	T	0.16	-19.915	15.5947	0.76569	0.0767:0.0:0.9233:0.0	.	571;403;571	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	Y	403;571;571	ENSP00000358580:H403Y;ENSP00000358582:H571Y;ENSP00000256658:H571Y	ENSP00000256658:H571Y	H	-	1	0	AP4B1	114239983	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.321000	0.51999	2.691000	0.91804	0.563000	0.77884	CAC	AP4B1	-	superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.507	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114438460	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	missense	SNP	0.996	A	A	114438460	G	A	114438460	3	1	151	1	0	0	0	0	1	0	0	0	751	1348	47	4	516	4	AP4B1	1	114438460	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2331978	114438460	134812161	60	24693										
SPAG17	200162	genome.wustl.edu	37	chr1	118644438	118644438	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttcactggtgcatttgcctCaggctgatcctttccctttc	7	13	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:118644438C>T	ENST00000336338.5	-	5	624	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	187	Lys-rich.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCATTTGCCTCAGGCTGATCC	0.493																																																	0													299	258	272					1																	118644438		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.559G>A	1.37:g.118644438C>T	ENSP00000337804:p.Glu187Lys		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E187K	ENST00000336338.5	37	c.559	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246783	0.59103	.	.	ENSG00000155761	ENST00000336338	T	0.21031	2.03	5.38	5.38	0.77491	.	0.647008	0.15067	N	0.282423	T	0.23611	0.0571	M	0.68952	2.095	0.30313	N	0.788366	P	0.46395	0.877	P	0.49853	0.624	T	0.02676	-1.1125	10	0.59425	D	0.04	.	14.9815	0.71313	0.0:1.0:0.0:0.0	.	187	Q6Q759	SPG17_HUMAN	K	187	ENSP00000337804:E187K	ENSP00000337804:E187K	E	-	1	0	SPAG17	118445961	0.002000	0.14202	0.867000	0.34043	0.027000	0.11550	1.272000	0.33109	2.680000	0.91292	0.650000	0.86243	GAG	SPAG17	-	NULL		0.493	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118644438	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.899	T	T	118644438	C	T	118644438	3	4	151	1	0	0	0	0	1	0	0	0	15009	835	29	1	6288	1	SPAG17	1	118644438	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4205978	118644438	130606183	61	24694										
NBPF10	100132406	genome.wustl.edu	37	chr1	145326060	145326060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaactgactgactcatgccaGccctacagaagtgcctttta	8	12	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:145326060G>A	ENST00000342960.5	+	30	3968	c.3933G>A	c.(3931-3933)caG>caA	p.Q1311Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	654						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACTCATGCCAGCCCTACAGAA	0.473																																																	0																																										SO:0001819	synonymous_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3933G>A	1.37:g.145326060G>A			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.Q1311	ENST00000342960.5	37	c.3933	CCDS53355.1	1																																																																																			NBPF10	-	pfam_NBPF_dom		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		G	NM_001039703		145326060	1	no_errors	ENST00000342960	ensembl	human	known	70_37	silent	SNP	0.008	A	A	145326060	G	A	145326060	2	1	151	1	0	0	0	0	0	0	0	1	10216	962	34	4		4	NBPF10	1	145326060	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	26681622	145326060	103924561	62	24695										
SF3B4	10262	genome.wustl.edu	37	chr1	149898637	149898637	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtatcataaagcaacttctCatcaatctcagggtccaggt	7	10	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:149898637C>G	ENST00000271628.8	-	3	921	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	113	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGCAACTTCTCATCAATCTCA	0.468																																																	0													108	104	105					1																	149898637		2203	4300	6503	SO:0001583	missense	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.337G>C	1.37:g.149898637C>G	ENSP00000271628:p.Glu113Gln		Q5SZ63	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E113Q	ENST00000271628.8	37	c.337	CCDS941.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723969	0.89298	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.21361	2.01;2.01	4.91	4.91	0.64330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.39683	-0.9602	10	0.66056	D	0.02	.	17.2847	0.87138	0.0:1.0:0.0:0.0	.	113;113	Q53FG6;Q15427	.;SF3B4_HUMAN	Q	113;70	ENSP00000271628:E113Q;ENSP00000391114:E70Q	ENSP00000271628:E113Q	E	-	1	0	SF3B4	148165261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.552000	0.86080	0.643000	0.83706	GAG	SF3B4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.468	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	C	NM_005850		149898637	-1	no_errors	ENST00000271628	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149898637	C	G	149898637	3	3	151	1	0	0	0	0	1	0	0	0	14183	835	29	1	953	1	SF3B4	1	149898637	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4572577	149898637	99351984	63	24696										
SF3B4	10262	genome.wustl.edu	37	chr1	149898700	149898700	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacatccaggtttttgttgtGagctgatgctttgttcaccc	9	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:149898700G>A	ENST00000271628.8	-	3	858	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	92					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTTTTGTTGTGAGCTGATGCT	0.438																																																	0													133	119	124					1																	149898700		2203	4300	6503	SO:0001583	missense	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.274C>T	1.37:g.149898700G>A	ENSP00000271628:p.His92Tyr		Q5SZ63	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H92Y	ENST00000271628.8	37	c.274	CCDS941.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827060	0.90955	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.05580	3.42;3.42	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.04543	0.0124	N	0.17474	0.49	0.80722	D	1	P;P	0.45569	0.861;0.861	P;P	0.48488	0.579;0.579	T	0.46679	-0.9174	10	0.87932	D	0	.	17.2847	0.87138	0.0:0.0:1.0:0.0	.	92;92	Q53FG6;Q15427	.;SF3B4_HUMAN	Y	92;49	ENSP00000271628:H92Y;ENSP00000391114:H49Y	ENSP00000271628:H92Y	H	-	1	0	SF3B4	148165324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.386000	0.97228	2.552000	0.86080	0.643000	0.83706	CAC	SF3B4	-	NULL		0.438	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	G	NM_005850		149898700	-1	no_errors	ENST00000271628	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149898700	G	A	149898700	3	1	151	1	0	0	0	0	1	0	0	0	14183	1290	45	1	1016	1	SF3B4	1	149898700	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	63	149898700	99351921	64	24697										
SETDB1	9869	genome.wustl.edu	37	chr1	150917569	150917569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggtggatggcagcctagtCaggatcctcttcctggtact	13	10	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:150917569C>T	ENST00000271640.5	+	9	1315	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	SETDB1_ENST00000368962.2_Silent_p.V375V|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.V375V|SETDB1_ENST00000368963.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	375	Tudor 2.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGCCTAGTCAGGATCCTCT	0.517																																																	0													95	85	89					1																	150917569		2203	4300	6503	SO:0001819	synonymous_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1125C>T	1.37:g.150917569C>T			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.V375	ENST00000271640.5	37	c.1125	CCDS44217.1	1																																																																																			SETDB1	-	smart_Tudor		0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150917569	1	no_errors	ENST00000271640	ensembl	human	known	70_37	silent	SNP	1.000	T	T	150917569	C	T	150917569	2	4	151	1	0	0	0	0	0	0	0	1	14168	813	29	1		1	SETDB1	1	150917569	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1018869	150917569	98333052	65	24698										
SEMA6C	10500	genome.wustl.edu	37	chr1	151107724	151107724	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacaaaaagcctgtgaccctCagtgtccagctccagcccta	7	16	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:151107724C>T	ENST00000341697.3	-	15	3186	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	499	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGACCCTCAGTGTCCAGC	0.587																																																	0													171	158	163					1																	151107724		2203	4300	6503	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1495G>A	1.37:g.151107724C>T	ENSP00000344148:p.Glu499Lys		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.E499K	ENST00000341697.3	37	c.1495	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712809	0.89112	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.378211	0.28683	N	0.014484	T	0.08802	0.0218	N	0.13327	0.33	0.48762	D	0.999701	B;D;B;D	0.60575	0.029;0.988;0.111;0.979	B;P;B;B	0.53062	0.01;0.717;0.113;0.444	T	0.02275	-1.1184	10	0.02654	T	1	.	15.4519	0.75279	0.0:1.0:0.0:0.0	.	499;459;499;499	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	K	499;459;499;499	ENSP00000357910:E499K;ENSP00000357908:E459K;ENSP00000357909:E499K;ENSP00000344148:E499K	ENSP00000344148:E499K	E	-	1	0	SEMA6C	149374348	0.009000	0.17119	0.997000	0.53966	0.990000	0.78478	1.846000	0.39289	2.526000	0.85167	0.561000	0.74099	GAG	SEMA6C	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.587	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	C	NM_030913		151107724	-1	no_errors	ENST00000368913	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151107724	C	T	151107724	3	4	151	1	0	0	0	0	1	0	0	0	14071	835	29	1	1417	1	SEMA6C	1	151107724	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	190155	151107724	98142897	66	24699										
FLG2	388698	genome.wustl.edu	37	chr1	152328793	152328793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acccacattgtccaaagccaGaggactgacctgagccagac	9	14	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:152328793G>C	ENST00000388718.5	-	3	1541	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	490	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S490F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGACTGACC	0.527																																																	1	Substitution - Missense(1)	urinary_tract(1)											223	222	223					1																	152328793		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1469C>G	1.37:g.152328793G>C	ENSP00000373370:p.Ser490Cys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S490C	ENST00000388718.5	37	c.1469	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353148	0.61293	.	.	ENSG00000143520	ENST00000388718	T	0.23552	1.9	4.47	4.47	0.54385	.	.	.	.	.	T	0.31358	0.0794	L	0.56769	1.78	0.27237	N	0.959246	D	0.89917	1.0	D	0.70716	0.97	T	0.06391	-1.0829	9	0.59425	D	0.04	.	9.8348	0.40963	0.0:0.0:0.7954:0.2045	.	490	Q5D862	FILA2_HUMAN	C	490	ENSP00000373370:S490C	ENSP00000373370:S490C	S	-	2	0	FLG2	150595417	0.055000	0.20627	0.924000	0.36721	0.741000	0.42261	2.668000	0.46816	2.324000	0.78689	0.655000	0.94253	TCT	FLG2	-	NULL		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152328793	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.893	C	C	152328793	G	C	152328793	3	2	151	1	0	0	0	0	1	0	0	0	5941	942	33	1	5710	1	FLG2	1	152328793	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1221069	152328793	96921828	67	24700										
NUP210L	91181	genome.wustl.edu	37	chr1	154076644	154076644	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccaatctccacatcagcatGaaatggtaacagttccattt	6	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154076644G>A	ENST00000368559.3	-	13	1734	c.1663C>T	c.(1663-1665)Cat>Tat	p.H555Y	MIR5698_ENST00000577643.1_RNA|NUP210L_ENST00000271854.3_Missense_Mutation_p.H555Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	555					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACATCAGCATGAAATGGTAAC	0.368																																																	0													185	165	171					1																	154076644		1869	4109	5978	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1663C>T	1.37:g.154076644G>A	ENSP00000357547:p.His555Tyr		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.H555Y	ENST00000368559.3	37	c.1663	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368327	0.42003	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05513	3.43;3.43	4.83	4.83	0.62350	.	0.294893	0.29572	N	0.011765	T	0.02610	0.0079	L	0.36672	1.1	0.28115	N	0.930829	P;B	0.44521	0.837;0.167	B;B	0.35182	0.197;0.123	T	0.29243	-1.0018	10	0.56958	D	0.05	-24.5065	15.8712	0.79119	0.0:0.0:1.0:0.0	.	555;555	E7EP56;Q5VU65	.;P210L_HUMAN	Y	555	ENSP00000357547:H555Y;ENSP00000271854:H555Y	ENSP00000271854:H555Y	H	-	1	0	NUP210L	152343268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.249000	0.65427	2.508000	0.84585	0.650000	0.86243	CAT	NUP210L	-	NULL		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	G	NM_207308		154076644	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154076644	G	A	154076644	3	1	151	1	0	0	0	0	1	0	0	0	10785	1290	45	1	4115	1	NUP210L	1	154076644	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1747851	154076644	95173977	68	24701										
ADAR	103	genome.wustl.edu	37	chr1	154562688	154562688	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgtgcttctggggaccttGagaggaggagcatagttctt	15	7	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154562688G>C	ENST00000368474.4	-	7	2667	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	ADAR_ENST00000368471.3_Nonsense_Mutation_p.S528*|ADAR_ENST00000292205.5_Nonsense_Mutation_p.S866*	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	823					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGGGACCTTGAGAGGAGGAG	0.542																																																	0													93	92	92					1																	154562688		2203	4300	6503	SO:0001587	stop_gained	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2468C>G	1.37:g.154562688G>C	ENSP00000357459:p.Ser823*		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Nonsense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.S866*	ENST00000368474.4	37	c.2597	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.032497	0.98017	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471	.	.	.	5.09	3.2	0.36748	.	0.499292	0.17077	N	0.187952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.3009	8.6164	0.33833	0.0859:0.1575:0.7566:0.0	.	.	.	.	X	866;823;528	.	ENSP00000292205:S866X	S	-	2	0	ADAR	152829312	0.993000	0.37304	0.952000	0.39060	0.998000	0.95712	2.686000	0.46968	1.496000	0.48567	0.563000	0.77884	TCA	ADAR	-	NULL		0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	G	NM_001111		154562688	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	nonsense	SNP	0.945	C	C	154562688	G	C	154562688	4	2	151	1	0	0	0	0	0	1	0	0	281	1294	45	1	1248	1	ADAR	1	154562688	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	486044	154562688	94687933	69	24702										
FLAD1	80308	genome.wustl.edu	37	chr1	154961004	154961004	+	Nonsense_Mutation	SNP	G	G	T													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctgctgcggcgggtgctgGaggggatgaagggactattc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154961004G>T	ENST00000292180.3	+	2	1118	c.796G>T	c.(796-798)Gag>Tag	p.E266*	FLAD1_ENST00000368433.1_Nonsense_Mutation_p.E266*|FLAD1_ENST00000315144.10_Nonsense_Mutation_p.E169*|FLAD1_ENST00000405236.2_Nonsense_Mutation_p.E167*|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368431.3_Nonsense_Mutation_p.E167*|FLAD1_ENST00000368432.1_Nonsense_Mutation_p.E169*|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	266					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCGGGTGCTGGAGGGGATGAA	0.552																																																	0													38	37	38					1																	154961004		2203	4300	6503	SO:0001587	stop_gained	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.796G>T	1.37:g.154961004G>T	ENSP00000292180:p.Glu266*		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Nonsense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.E266*	ENST00000292180.3	37	c.796	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.558280	0.96514	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	6.04	4.16	0.48862	.	0.384541	0.29438	N	0.012153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.7876	7.7937	0.29135	0.1368:0.0:0.7331:0.1301	.	.	.	.	X	266;169;169;167;266;167	.	ENSP00000292180:E266X	E	+	1	0	FLAD1	153227628	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.355000	0.59424	1.573000	0.49748	-0.258000	0.10820	GAG	FLAD1	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd		0.552	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	G	NM_025207		154961004	1	no_errors	ENST00000292180	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	154961004	G	T	154961004	4	4	151	1	0	0	0	0	0	1	0	0	5938	1175	41	3	877	3	FLAD1	1	154961004	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	398316	154961004	94289617	70	24703	139	2								
FLAD1	80308	genome.wustl.edu	37	chr1	154961012	154961012	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cggcgggtgctggaggggatGaagggactattccaaaaccc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154961012G>A	ENST00000292180.3	+	2	1126	c.804G>A	c.(802-804)atG>atA	p.M268I	FLAD1_ENST00000368433.1_Missense_Mutation_p.M268I|FLAD1_ENST00000315144.10_Missense_Mutation_p.M171I|FLAD1_ENST00000405236.2_Missense_Mutation_p.M169I|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368431.3_Missense_Mutation_p.M169I|FLAD1_ENST00000368432.1_Missense_Mutation_p.M171I|FLAD1_ENST00000295530.2_Start_Codon_SNP_p.M1I	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	268					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.M268I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGAGGGGATGAAGGGACTAT	0.567																																																	1	Substitution - Missense(1)	lung(1)											41	39	40					1																	154961012		2203	4300	6503	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.804G>A	1.37:g.154961012G>A	ENSP00000292180:p.Met268Ile		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.M268I	ENST00000292180.3	37	c.804	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429260	0.25726	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.51	0.306	0.15806	Molybdopterin binding (3);	0.079225	0.52532	D	0.000073	T	0.13243	0.0321	N	0.00811	-1.165	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.01281	0.0;0.0;0.0	T	0.34378	-0.9831	10	0.38643	T	0.18	-8.8862	3.253	0.06822	0.2592:0.1065:0.5251:0.1092	.	1;268;169	Q5T191;Q8NFF5;Q8NFF5-4	.;FAD1_HUMAN;.	I	268;171;171;169;268;169;1	ENSP00000357418:M268I;ENSP00000317296:M171I;ENSP00000357417:M171I;ENSP00000357416:M169I;ENSP00000292180:M268I;ENSP00000384323:M169I	ENSP00000292180:M268I	M	+	3	0	FLAD1	153227636	0.000000	0.05858	0.788000	0.31933	0.788000	0.44548	-0.831000	0.04405	0.140000	0.18849	-0.258000	0.10820	ATG	FLAD1	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	G	NM_025207		154961012	1	no_errors	ENST00000292180	ensembl	human	known	70_37	missense	SNP	0.069	A	A	154961012	G	A	154961012	3	1	151	1	0	0	0	0	1	0	0	0	5938	1290	45	1	885	1	FLAD1	1	154961012	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8	154961012	94289609	71	24704	139	2								
CLK2	1196	genome.wustl.edu	37	chr1	155235704	155235704	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attcacaaacagaatattttCaggcttgaggtctgtatgtg	9	6	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:155235704C>T	ENST00000368361.4	-	8	1195	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	CLK2_ENST00000361168.5_Missense_Mutation_p.E293K|CLK2_ENST00000355560.4_Missense_Mutation_p.E292K|CLK2_ENST00000536801.1_Missense_Mutation_p.E294K|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAATATTTTCAGGCTTGAGG	0.507								Other conserved DNA damage response genes																																									0													179	166	170					1																	155235704		2203	4298	6501	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.880G>A	1.37:g.155235704C>T	ENSP00000357345:p.Glu294Lys		B1AVS9|B5MBX6|Q96CQ0	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.E294K	ENST00000368361.4	37	c.880		1	.	.	.	.	.	.	.	.	.	.	.	35	5.495619	0.96355	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71902	-0.4452	10	0.87932	D	0	.	17.5549	0.87887	0.0:1.0:0.0:0.0	.	294;293	P49760;P49760-3	CLK2_HUMAN;.	K	293;294;292;66;294	ENSP00000354856:E293K;ENSP00000357345:E294K;ENSP00000347759:E292K;ENSP00000441023:E294K	ENSP00000347759:E292K	E	-	1	0	CLK2	153502328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.609000	0.82925	2.806000	0.96561	0.655000	0.94253	GAA	CLK2	-	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		0.507	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993		155235704	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155235704	C	T	155235704	3	4	151	1	0	0	0	0	1	0	0	0	3542	835	29	1	643	1	CLK2	1	155235704	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	274692	155235704	94014917	72	24705										
SMG5	23381	genome.wustl.edu	37	chr1	156238096	156238096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcaccgctttttgccaggaGacagtttccgagtctcacac	8	14	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:156238096G>C	ENST00000361813.5	-	8	968	c.824C>G	c.(823-825)tCt>tGt	p.S275C	SMG5_ENST00000368267.5_Missense_Mutation_p.S275C|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	275					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S275F(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTTGCCAGGAGACAGTTTCCG	0.527																																																	1	Substitution - Missense(1)	breast(1)											265	261	262					1																	156238096		2203	4300	6503	SO:0001583	missense	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.824C>G	1.37:g.156238096G>C	ENSP00000355261:p.Ser275Cys		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.S275C	ENST00000361813.5	37	c.824	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400016	0.62177	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.32988	1.43;1.43	6.02	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.47190	1.495	0.53005	D	0.999961	D	0.76494	0.999	D	0.74674	0.984	T	0.07654	-1.0761	10	0.59425	D	0.04	-21.6628	13.4621	0.61233	0.0751:0.0:0.9249:0.0	.	275	Q9UPR3	SMG5_HUMAN	C	275	ENSP00000355261:S275C;ENSP00000357250:S275C	ENSP00000355261:S275C	S	-	2	0	SMG5	154504720	1.000000	0.71417	0.594000	0.28785	0.354000	0.29330	7.588000	0.82629	2.865000	0.98341	0.655000	0.94253	TCT	SMG5	-	NULL		0.527	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	G	NM_015327		156238096	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	missense	SNP	0.994	C	C	156238096	G	C	156238096	3	2	151	1	0	0	0	0	1	0	0	0	14826	942	33	1	2286	1	SMG5	1	156238096	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1002392	156238096	93012525	73	24706										
PEAR1	375033	genome.wustl.edu	37	chr1	156884502	156884502	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accccccggccactatgactCacccaagaacagccacatcc	5	20	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:156884502C>G	ENST00000338302.3	+	24	3251	c.3026C>G	c.(3025-3027)tCa>tGa	p.S1009*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.S1009*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1009	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACTATGACTCACCCAAGAAC	0.607																																																	0													158	126	137					1																	156884502		2203	4300	6503	SO:0001587	stop_gained	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.3026C>G	1.37:g.156884502C>G	ENSP00000344465:p.Ser1009*		Q8TEK2	Nonsense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.S1009*	ENST00000338302.3	37	c.3026	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.123431	0.99342	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	.	.	.	4.95	4.95	0.65309	.	0.000000	0.36628	N	0.002500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7102	0.77620	0.0:1.0:0.0:0.0	.	.	.	.	X	1009	.	ENSP00000292357:S1009X	S	+	2	0	PEAR1	155151126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.267000	0.58877	2.553000	0.86117	0.591000	0.81541	TCA	PEAR1	-	NULL		0.607	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	C	NM_001080471		156884502	1	no_errors	ENST00000292357	ensembl	human	known	70_37	nonsense	SNP	0.994	G	G	156884502	C	G	156884502	4	3	151	1	0	0	0	0	0	1	0	0	11736	838	29	1	3112	1	PEAR1	1	156884502	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	646406	156884502	92366119	74	24707										
FCRL1	115350	genome.wustl.edu	37	chr1	157773648	157773648	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cactcactgtgcacatttatCtgggatctcctgctcctcaa	6	14	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:157773648C>T	ENST00000368176.3	-	3	373	c.306G>A	c.(304-306)caG>caA	p.Q102Q	FCRL1_ENST00000358292.3_Silent_p.Q102Q|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.Q102Q	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	102	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCACATTTATCTGGGATCTCC	0.527																																					GBM(54;482 1003 11223 30131 35730)												0													110	92	99					1																	157773648		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.306G>A	1.37:g.157773648C>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q102	ENST00000368176.3	37	c.306	CCDS1170.1	1																																																																																			FCRL1	-	smart_Ig_sub,pfscan_Ig-like		0.527	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	C	NM_052938		157773648	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	silent	SNP	0.000	T	T	157773648	C	T	157773648	2	4	151	1	0	0	0	0	0	0	0	1	5812	912	32	1		1	FCRL1	1	157773648	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	889146	157773648	91476973	75	24708										
IFI16	3428	genome.wustl.edu	37	chr1	159002419	159002419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggccagcacaaccttccctGagagccatcttcggactcct	8	16	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159002419G>A	ENST00000295809.7	+	7	1522	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	IFI16_ENST00000359709.3_Missense_Mutation_p.E367K|IFI16_ENST00000368131.4_Missense_Mutation_p.E423K|IFI16_ENST00000368132.3_Missense_Mutation_p.E423K|IFI16_ENST00000448393.2_Missense_Mutation_p.E423K|IFI16_ENST00000430894.2_Missense_Mutation_p.E371K|IFI16_ENST00000340979.6_Missense_Mutation_p.E423K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	423					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACCTTCCCTGAGAGCCATCT	0.517																																																	0													139	129	132					1																	159002419		2203	4300	6503	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1267G>A	1.37:g.159002419G>A	ENSP00000295809:p.Glu423Lys		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E423K	ENST00000295809.7	37	c.1267		1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787447	0.16258	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.06218	3.34;3.33;3.45;3.45;3.47	2.15	-1.09	0.09904	.	.	.	.	.	T	0.01835	0.0058	L	0.39898	1.24	0.09310	N	1	B;B;P	0.46220	0.053;0.065;0.874	B;B;B	0.44163	0.021;0.04;0.443	T	0.39522	-0.9610	9	0.38643	T	0.18	.	2.8264	0.05486	0.327:0.2472:0.4258:0.0	.	371;423;423	E7EPR3;Q16666-3;Q16666-2	.;.;.	K	423;423;423;423;371	ENSP00000295809:E423K;ENSP00000342741:E423K;ENSP00000357113:E423K;ENSP00000357114:E423K;ENSP00000394935:E371K	ENSP00000295809:E423K	E	+	1	0	IFI16	157269043	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.780000	0.04654	-0.285000	0.09089	-0.502000	0.04539	GAG	IFI16	-	NULL		0.517	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		159002419	1	no_errors	ENST00000295809	ensembl	human	known	70_37	missense	SNP	0.000	A	A	159002419	G	A	159002419	3	1	151	1	0	0	0	0	1	0	0	0	7531	1291	45	1	1289	1	IFI16	1	159002419	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1228771	159002419	90248202	76	24709										
OR10J3	441911	genome.wustl.edu	37	chr1	159284332	159284332	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gataatcacattgccagagaGagtcagcaggtacaaagtta	10	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159284332G>C	ENST00000332217.5	-	1	117	c.118C>G	c.(118-120)Ctc>Gtc	p.L40V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGCCAGAGAGAGTCAGCAGG	0.463																																																	0													191	197	195					1																	159284332		2203	4300	6503	SO:0001583	missense	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.118C>G	1.37:g.159284332G>C	ENSP00000331789:p.Leu40Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L40V	ENST00000332217.5	37	c.118	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154037	0.21371	.	.	ENSG00000196266	ENST00000332217	T	0.00512	6.89	5.12	0.556	0.17253	.	0.000000	0.24894	U	0.034746	T	0.00144	0.0004	L	0.39147	1.195	0.09310	N	1	B	0.27679	0.185	B	0.32342	0.144	T	0.41016	-0.9532	10	0.46703	T	0.11	.	5.5668	0.17175	0.2995:0.1611:0.5394:0.0	.	40	Q5JRS4	O10J3_HUMAN	V	40	ENSP00000331789:L40V	ENSP00000331789:L40V	L	-	1	0	OR10J3	157550956	0.000000	0.05858	0.998000	0.56505	0.849000	0.48306	-0.474000	0.06607	0.242000	0.21303	-0.378000	0.06908	CTC	OR10J3	-	prints_GPCR_Rhodpsn		0.463	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	G			159284332	-1	no_errors	ENST00000332217	ensembl	human	known	70_37	missense	SNP	0.062	C	C	159284332	G	C	159284332	3	2	151	1	0	0	0	0	1	0	0	0	10935	942	33	1	873	1	OR10J3	1	159284332	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	281913	159284332	89966289	77	24710										
CCDC19	25790	genome.wustl.edu	37	chr1	159857691	159857691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcttgttggctctctgcagGaggttctgggcccgttcctt	13	11	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159857691G>A	ENST00000368099.4	-	5	592	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CCDC19_ENST00000426543.2_Silent_p.L91L|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTCTCTGCAGGAGGTTCTGGG	0.547																																																	0													244	215	225					1																	159857691		2203	4300	6503	SO:0001819	synonymous_variant	25790																														ENST00000368099.4:c.528C>T	1.37:g.159857691G>A				Silent	SNP	NULL	p.L176	ENST00000368099.4	37	c.528	CCDS30914.1	1																																																																																			CCDC19	-	NULL		0.547	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	G			159857691	-1	no_errors	ENST00000368099	ensembl	human	known	70_37	silent	SNP	0.970	A	A	159857691	G	A	159857691	2	1	151	1	0	0	0	0	0	0	0	1	2800	1161	41	1		1	CCDC19	1	159857691	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	573359	159857691	89392930	78	24711										
IGSF9	57549	genome.wustl.edu	37	chr1	159899721	159899721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgttgctggggtcgctgacGaagctgcccgcgaaggccac	16	12	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159899721G>A	ENST00000368094.1	-	16	2306	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.F687F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	703	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTCGCTGACGAAGCTGCCCG	0.672																																																	0													29	28	29					1																	159899721		2190	4295	6485	SO:0001819	synonymous_variant	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2109C>T	1.37:g.159899721G>A				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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F703	ENST00000368094.1	37	c.2109	CCDS44254.1	1																																																																																			IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159899721	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	silent	SNP	0.926	A	A	159899721	G	A	159899721	2	1	151	1	0	0	0	0	0	0	0	1	7625	1049	37	1		1	IGSF9	1	159899721	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	42030	159899721	89350900	79	24712										
MPZ	4359	genome.wustl.edu	37	chr1	161277055	161277055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccaggcactcaccgaaatgGcatctctgcccccttcgggc	9	18	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:161277055G>A	ENST00000533357.1	-	2	293	c.227C>T	c.(226-228)gCc>gTc	p.A76V	MPZ_ENST00000360451.6_Missense_Mutation_p.A86V|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000336559.4_Missense_Mutation_p.A76V	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	76	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCGAAATGGCATCTCTGCC	0.547																																																	0			GRCh37	CM994406	MPZ	M							47	43	44					1																	161277055		2203	4300	6503	SO:0001583	missense	4359			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.227C>T	1.37:g.161277055G>A	ENSP00000432943:p.Ala76Val		Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.A86V	ENST00000533357.1	37	c.257	CCDS1229.2	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171047	0.57584	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	T;T;T	0.64803	-0.12;-0.12;-0.12	5.36	5.36	0.76844	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.144568	0.46145	D	0.000303	T	0.37839	0.1018	L	0.58101	1.795	0.39379	D	0.966225	B	0.30727	0.292	B	0.20577	0.03	T	0.38457	-0.9660	9	0.30078	T	0.28	-20.4588	10.0847	0.42410	0.0915:0.0:0.9085:0.0	.	76	P25189	MYP0_HUMAN	V	76;86;76	ENSP00000432943:A76V;ENSP00000353634:A86V;ENSP00000337777:A76V	ENSP00000337777:A76V	A	-	2	0	MPZ	159543679	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.354000	0.44098	2.507000	0.84556	0.462000	0.41574	GCC	MPZ	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0		0.547	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZ	HGNC	protein_coding	OTTHUMT00000082987.2	G	NM_000530		161277055	-1	no_errors	ENST00000360451	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161277055	G	A	161277055	3	1	151	1	0	0	0	0	1	0	0	0	9771	1203	42	4	539	4	MPZ	1	161277055	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1377334	161277055	87973566	80	24713										
C1orf226	400793	genome.wustl.edu	37	chr1	162353381	162353381	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgagccccatcagcctggctGagtcctgggaggatggcagc	15	12	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:162353381G>A	ENST00000458626.2	+	2	899	c.727G>A	c.(727-729)Gag>Aag	p.E243K	C1orf226_ENST00000426197.2_Missense_Mutation_p.E286K	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	243										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGCCTGGCTGAGTCCTGGGA	0.592																																																	0													23	26	25					1																	162353381		2006	4162	6168	SO:0001583	missense	400793			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.727G>A	1.37:g.162353381G>A	ENSP00000437071:p.Glu243Lys		B4DF31	Missense_Mutation	SNP	NULL	p.E286K	ENST00000458626.2	37	c.856	CCDS53422.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756574	0.89843	.	.	ENSG00000239887	ENST00000426197;ENST00000458626	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	T	0.33962	0.0881	L	0.29908	0.895	.	.	.	P;P	0.47841	0.901;0.78	P;P	0.47827	0.558;0.461	T	0.14896	-1.0456	6	.	.	.	0.9414	14.9681	0.71210	0.0:0.1434:0.8566:0.0	.	286;243	A1L170-2;A1L170	.;CA226_HUMAN	K	286;243	.	.	E	+	1	0	C1orf226	160620005	0.995000	0.38212	0.109000	0.21407	0.977000	0.68977	2.352000	0.44080	1.266000	0.44231	0.655000	0.94253	GAG	C1orf226	-	NULL		0.592	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	G	NM_001085375		162353381	1	no_errors	ENST00000426197	ensembl	human	known	70_37	missense	SNP	0.992	A	A	162353381	G	A	162353381	3	1	151	1	0	0	0	0	1	0	0	0	2037	1291	45	1	866	1	C1orf226	1	162353381	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1076326	162353381	86897240	81	24714										
SLC19A2	10560	genome.wustl.edu	37	chr1	169435091	169435091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcccttcagcagtatattatGaagtggttacttgagaactt	9	7	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:169435091G>A	ENST00000236137.5	-	6	1726	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S296L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	497					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGTATATTATGAAGTGGTTAC	0.403																																																	0													128	124	126					1																	169435091		2203	4300	6503	SO:0001583	missense	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1490C>T	1.37:g.169435091G>A	ENSP00000236137:p.Ser497Leu		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.S497L	ENST00000236137.5	37	c.1490	CCDS1280.1	1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969798	0.34754	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.86562	-2.14;-1.55;-2.11	5.81	3.91	0.45181	.	.	.	.	.	T	0.68732	0.3033	L	0.36672	1.1	0.30907	N	0.729093	B;B	0.15930	0.015;0.001	B;B	0.10450	0.005;0.001	T	0.62148	-0.6915	8	0.72032	D	0.01	-36.032	7.5265	0.27658	0.0838:0.0:0.7527:0.1635	.	296;497	O60779-2;O60779	.;S19A2_HUMAN	L	497;296;459	ENSP00000236137:S497L;ENSP00000356778:S296L;ENSP00000356776:S459L	ENSP00000236137:S497L	S	-	2	0	SLC19A2	167701715	0.024000	0.19004	0.163000	0.22734	0.868000	0.49771	1.823000	0.39062	0.775000	0.33450	0.650000	0.86243	TCA	SLC19A2	-	pirsf_Folate_carrier		0.403	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	HGNC	protein_coding	OTTHUMT00000086106.1	G	NM_006996		169435091	-1	no_errors	ENST00000236137	ensembl	human	known	70_37	missense	SNP	0.017	A	A	169435091	G	A	169435091	3	1	151	1	0	0	0	0	1	0	0	0	14459	1294	45	1	7	1	SLC19A2	1	169435091	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7081710	169435091	79815530	82	24715										
ASTN1	460	genome.wustl.edu	37	chr1	176838073	176838073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggacccggtgtaaggtggggGaacccagatccaggagggtg	19	8	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:176838073G>A	ENST00000367654.3	-	22	3789	c.3578C>T	c.(3577-3579)tCc>tTc	p.S1193F	ASTN1_ENST00000424564.2_Missense_Mutation_p.S1185F|ASTN1_ENST00000361833.2_Missense_Mutation_p.S1185F|ASTN1_ENST00000367657.3_Missense_Mutation_p.S1185F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1193					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TAAGGTGGGGGAACCCAGATC	0.507																																																	0													168	155	159					1																	176838073		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3578C>T	1.37:g.176838073G>A	ENSP00000356626:p.Ser1193Phe		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S1193F	ENST00000367654.3	37	c.3578		1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907683	0.72868	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16196	2.36;2.78;2.78;2.36	5.7	5.7	0.88788	.	0.098358	0.64402	D	0.000001	T	0.23532	0.0569	L	0.40543	1.245	0.80722	D	1	P;P	0.40875	0.731;0.514	B;B	0.44224	0.444;0.351	T	0.00626	-1.1638	10	0.87932	D	0	-17.0839	19.4429	0.94831	0.0:0.0:1.0:0.0	.	1185;1185	O14525-2;B1AJS1	.;.	F	1185;1185;1193;1185;1185	ENSP00000356629:S1185F;ENSP00000354536:S1185F;ENSP00000356626:S1193F;ENSP00000395041:S1185F	ENSP00000354536:S1185F	S	-	2	0	ASTN1	175104696	1.000000	0.71417	0.858000	0.33744	0.092000	0.18411	9.689000	0.98673	2.698000	0.92095	0.655000	0.94253	TCC	ASTN1	-	NULL		0.507	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176838073	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	0.989	A	A	176838073	G	A	176838073	3	1	151	1	0	0	0	0	1	0	0	0	1065	1174	41	1	342	1	ASTN1	1	176838073	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7402982	176838073	72412548	83	24716										
RASAL2	9462	genome.wustl.edu	37	chr1	178269208	178269208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaactgtcagtgtcccttccGagggtcagtttcccgagtac	11	12	2	0	rs144830827		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:178269208G>A	ENST00000367649.3	+	3	764	c.412G>A	c.(412-414)Gag>Aag	p.E138K	RASAL2_ENST00000448150.3_Missense_Mutation_p.E120K			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.E120*(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTCCCTTCCGAGGGTCAGTT	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	ovary(1)						G	LYS/GLU	0,4406		0,0,2203	70	73	72		412	5.6	1	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RASAL2	NM_170692.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	138/1281	178269208	1,13005	2203	4300	6503	SO:0001583	missense	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.412G>A	1.37:g.178269208G>A	ENSP00000356621:p.Glu138Lys	1945	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E138K	ENST00000367649.3	37	c.412	CCDS1321.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.327211	0.95708	0.0	1.16E-4	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.28454	1.61;1.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.58101	1.795	0.54753	D	0.999988	D	0.65815	0.995	D	0.68192	0.956	T	0.51624	-0.8682	10	0.72032	D	0.01	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	138	F8W755	.	K	120;138	ENSP00000407768:E120K;ENSP00000356621:E138K	ENSP00000356621:E138K	E	+	1	0	RASAL2	176535831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.994000	0.76251	2.793000	0.96121	0.655000	0.94253	GAG	RASAL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000352415.1	G	NM_170692		178269208	1	no_errors	ENST00000367649	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178269208	G	A	178269208	3	1	151	1	0	0	0	0	1	0	0	0	13094	1059	37	1	422	1	RASAL2	1	178269208	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1431135	178269208	70981413	84	24717										
RALGPS2	55103	genome.wustl.edu	37	chr1	178777210	178777210	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttgtggatggaataaaaaaGaaaaatatagttctgcacca	9	4	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:178777210G>C	ENST00000367635.3	+	5	582	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E82Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	82	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAATAAAAAAGAAAAATATAG	0.313																																																	0													50	54	52					1																	178777210		2201	4293	6494	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.244G>C	1.37:g.178777210G>C	ENSP00000356607:p.Glu82Gln		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.E82Q	ENST00000367635.3	37	c.244	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590920	0.86851	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.30448	1.53;1.53;1.53	5.49	5.49	0.81192	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.044822	0.85682	D	0.000000	T	0.50343	0.1610	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.66351	0.887;0.943	T	0.48969	-0.8987	10	0.72032	D	0.01	.	18.1462	0.89656	0.0:0.0:1.0:0.0	.	82;82	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	82;82;47	ENSP00000356607:E82Q;ENSP00000356606:E82Q;ENSP00000313613:E47Q	ENSP00000313613:E47Q	E	+	1	0	RALGPS2	177043833	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.924000	0.92827	2.593000	0.87608	0.655000	0.94253	GAA	RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.313	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	G	NM_152663		178777210	1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178777210	G	C	178777210	3	2	151	1	0	0	0	0	1	0	0	0	13048	943	33	1	258	1	RALGPS2	1	178777210	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	508002	178777210	70473411	85	24718										
GLUL	2752	genome.wustl.edu	37	chr1	182353749	182353749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcgttgatgttggaggtttCatggaatccagttagacgtc	13	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:182353749C>T	ENST00000331872.6	-	7	1453	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.E305K|GLUL_ENST00000311223.5_Missense_Mutation_p.E305K|GLUL_ENST00000417584.2_Missense_Mutation_p.E305K	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	305					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TTGGAGGTTTCATGGAATCCA	0.532																																																	0													114	103	107					1																	182353749		2203	4300	6503	SO:0001583	missense	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.913G>A	1.37:g.182353749C>T	ENSP00000356537:p.Glu305Lys		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.E305K	ENST00000331872.6	37	c.913	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279187	0.80692	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.34	4.43	0.53597	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.093973	0.64402	D	0.000001	D	0.92499	0.7618	H	0.98370	4.215	0.80722	D	1	B	0.21905	0.062	B	0.28465	0.09	D	0.91231	0.5014	10	0.72032	D	0.01	-22.555	12.4747	0.55807	0.0:0.9173:0.0:0.0826	.	305	P15104	GLNA_HUMAN	K	305	ENSP00000356537:E305K;ENSP00000307900:E305K;ENSP00000398320:E305K;ENSP00000344958:E305K	ENSP00000307900:E305K	E	-	1	0	GLUL	180620372	1.000000	0.71417	0.947000	0.38551	0.983000	0.72400	5.574000	0.67424	1.232000	0.43678	0.563000	0.77884	GAA	GLUL	-	pfam_Gln_synth_cat_dom		0.532	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	C	NM_002065		182353749	-1	no_errors	ENST00000311223	ensembl	human	known	70_37	missense	SNP	1.000	T	T	182353749	C	T	182353749	3	4	151	1	0	0	0	0	1	0	0	0	6497	835	29	1	212	1	GLUL	1	182353749	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3576539	182353749	66896872	86	24719										
PLA2G4A	5321	genome.wustl.edu	37	chr1	186876127	186876127	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggttctagaaatgtctcttGaagtttggtaagtgcattta	10	4	2	2	rs373613129		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:186876127G>A	ENST00000367466.3	+	6	561	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	137	Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AATGTCTCTTGAAGTTTGGTA	0.269																																																	0								G	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	74	75	75		409	5.6	1	1		75	0,8576		0,0,4288	no	missense	PLA2G4A	NM_024420.2	56	0,1,6488	AA,AG,GG		0.0,0.0227,0.0077	benign	137/750	186876127	1,12977	2201	4288	6489	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.409G>A	1.37:g.186876127G>A	ENSP00000356436:p.Glu137Lys		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E137K	ENST00000367466.3	37	c.409	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855989	0.51376	2.27E-4	0.0	ENSG00000116711	ENST00000367466	T	0.63580	-0.05	5.63	5.63	0.86233	Lysophospholipase, catalytic domain (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.61218	1.895	0.80722	D	1	B	0.30763	0.294	B	0.20955	0.032	T	0.55379	-0.8150	10	0.27082	T	0.32	-25.6868	17.5287	0.87808	0.0:0.0:1.0:0.0	.	137	P47712	PA24A_HUMAN	K	137	ENSP00000356436:E137K	ENSP00000356436:E137K	E	+	1	0	PLA2G4A	185142750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.619000	0.67729	2.814000	0.96858	0.563000	0.77884	GAA	PLA2G4A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_LysoPLipase_cat_dom		0.269	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	G	NM_024420		186876127	1	no_errors	ENST00000367466	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186876127	G	A	186876127	3	1	151	1	0	0	0	0	1	0	0	0	12025	1291	45	1	427	1	PLA2G4A	1	186876127	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4522378	186876127	62374494	87	24720										
TROVE2	6738	genome.wustl.edu	37	chr1	193044963	193044963	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttaaaggacttgcaattgtGaccaaatatattacaaaggg	9	5	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:193044963G>C	ENST00000367446.3	+	3	804	c.594G>C	c.(592-594)gtG>gtC	p.V198V	TROVE2_ENST00000367443.1_Silent_p.V198V|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367445.3_Silent_p.V198V|TROVE2_ENST00000367441.1_Silent_p.V198V|TROVE2_ENST00000400968.2_Silent_p.V198V|TROVE2_ENST00000367444.3_Silent_p.V198V	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	198	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTGCAATTGTGACCAAATATA	0.323																																																	0													71	76	74					1																	193044963		1821	4068	5889	SO:0001819	synonymous_variant	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.594G>C	1.37:g.193044963G>C			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.V198	ENST00000367446.3	37	c.594	CCDS1379.1	1																																																																																			TROVE2	-	pfam_TROVE,pfscan_TROVE		0.323	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	G	NM_004600		193044963	1	no_errors	ENST00000367441	ensembl	human	known	70_37	silent	SNP	0.994	C	C	193044963	G	C	193044963	2	2	151	1	0	0	0	0	0	0	0	1	16607	1277	45	1		1	TROVE2	1	193044963	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6168836	193044963	56205658	88	24721										
PTPRC	5788	genome.wustl.edu	37	chr1	198718660	198718660	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggaaccaagcaaatacatCaatgcatcttttataatggt	7	7	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:198718660C>G	ENST00000367376.2	+	28	3219	c.3048C>G	c.(3046-3048)atC>atG	p.I1016M	PTPRC_ENST00000348564.6_Missense_Mutation_p.I857M|PTPRC_ENST00000594404.1_Missense_Mutation_p.I855M|PTPRC_ENST00000352140.3_Missense_Mutation_p.I968M|PTPRC_ENST00000442510.2_Missense_Mutation_p.I1018M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1016	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAAATACATCAATGCATCTT	0.348																																																	0													94	88	90					1																	198718660		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3048C>G	1.37:g.198718660C>G	ENSP00000356346:p.Ile1016Met		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I1018M	ENST00000367376.2	37	c.3054		1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046222	0.55110	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.90844	-2.74	5.82	3.94	0.45596	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49305	D	0.000155	D	0.96109	0.8732	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95232	0.8343	10	0.87932	D	0	.	8.6917	0.34271	0.0:0.6961:0.0:0.3039	.	857;968;1016	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	M	1018;968;1016;855	ENSP00000193532:I968M	ENSP00000306782:I855M	I	+	3	3	PTPRC	196985283	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	0.782000	0.26788	0.784000	0.33661	0.650000	0.86243	ATC	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		C			198718660	1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	1.000	G	G	198718660	C	G	198718660	3	3	151	1	0	0	0	0	1	0	0	0	12827	816	29	1	3165	1	PTPRC	1	198718660	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5673697	198718660	50531961	89	24722										
NR5A2	2494	genome.wustl.edu	37	chr1	200012937	200012937	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggtgaattactcctatgatGaagatctggaagagctttgt	11	5	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:200012937G>A	ENST00000367362.3	+	3	484	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	NR5A2_ENST00000544748.1_Missense_Mutation_p.E8K|NR5A2_ENST00000236914.3_Missense_Mutation_p.E34K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	80					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E80K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCCTATGATGAAGATCTGGA	0.388																																					Melanoma(179;1138 2773 15678 26136)												1	Substitution - Missense(1)	cervix(1)											112	106	108					1																	200012937		2203	4300	6503	SO:0001583	missense	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.238G>A	1.37:g.200012937G>A	ENSP00000356331:p.Glu80Lys		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E80K	ENST00000367362.3	37	c.238	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623953	0.87560	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.94330	-3.39;-3.4;-3.4	5.91	5.91	0.95273	Zinc finger, NHR/GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	L	0.27053	0.805	0.80722	D	1	B;B	0.27068	0.006;0.167	B;B	0.29598	0.019;0.104	D	0.85025	0.0914	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	34;80	F1D8R9;O00482	.;NR5A2_HUMAN	K	80;34;8	ENSP00000356331:E80K;ENSP00000236914:E34K;ENSP00000439116:E8K	.	E	+	1	0	NR5A2	198279560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.343000	0.97047	2.814000	0.96858	0.650000	0.86243	GAA	NR5A2	-	pirsf_Steroidogenic_factor_1		0.388	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	G			200012937	1	no_errors	ENST00000367362	ensembl	human	known	70_37	missense	SNP	1.000	A	A	200012937	G	A	200012937	3	1	151	1	0	0	0	0	1	0	0	0	10660	1291	45	1	248	1	NR5A2	1	200012937	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1294277	200012937	49237684	90	24723										
CACNA1S	779	genome.wustl.edu	37	chr1	201016290	201016290	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgatagccataatactcctCttggcgtttcatgaacttcc	6	13	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:201016290C>G	ENST00000362061.3	-	38	4847	c.4621G>C	c.(4621-4623)Gag>Cag	p.E1541Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1522Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1541					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAATACTCCTCTTGGCGTTTC	0.527																																																	0													174	162	166					1																	201016290		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4621G>C	1.37:g.201016290C>G	ENSP00000355192:p.Glu1541Gln		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.E1541Q	ENST00000362061.3	37	c.4621	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.541182	0.85917	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.66815	-0.23;-0.23	5.17	4.26	0.50523	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.324649	0.36703	N	0.002445	T	0.77412	0.4126	L	0.56340	1.77	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.78804	-0.2060	10	0.56958	D	0.05	.	13.9776	0.64282	0.0:0.9262:0.0:0.0738	.	1541	Q13698	CAC1S_HUMAN	Q	1541;1522	ENSP00000355192:E1541Q;ENSP00000356307:E1522Q	ENSP00000355192:E1541Q	E	-	1	0	CACNA1S	199282913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.439000	0.80444	1.314000	0.45095	0.655000	0.94253	GAG	CACNA1S	-	pfam_VDCC_a1su_IQ		0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	C	NM_000069		201016290	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	missense	SNP	1.000	G	G	201016290	C	G	201016290	3	3	151	1	0	0	0	0	1	0	0	0	2552	922	32	1	1028	1	CACNA1S	1	201016290	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1003353	201016290	48234331	91	24724										
NAV1	89796	genome.wustl.edu	37	chr1	201749586	201749586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccatcagtagtggactcagcGatgcctcagacaatctcagt	9	12	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:201749586G>A	ENST00000367296.4	+	4	1684	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	NAV1_ENST00000295624.6_Missense_Mutation_p.D422N|NAV1_ENST00000367297.4_Missense_Mutation_p.D422N|NAV1_ENST00000367300.3_Missense_Mutation_p.D422N|NAV1_ENST00000367302.1_Missense_Mutation_p.D435N|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.D31N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	422					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGACTCAGCGATGCCTCAGA	0.468																																																	0													132	119	123					1																	201749586		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1264G>A	1.37:g.201749586G>A	ENSP00000356265:p.Asp422Asn		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D422N	ENST00000367296.4	37	c.1264	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.674637	0.96764	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.19250	2.16;2.41;2.42;2.43;2.16;2.39	5.42	5.42	0.78866	.	0.169991	0.49916	D	0.000123	T	0.49270	0.1547	M	0.76170	2.325	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.87578	0.998;0.776;0.998	T	0.46359	-0.9197	10	0.51188	T	0.08	-19.0269	18.8379	0.92169	0.0:0.0:1.0:0.0	.	31;422;422	Q8NEY1-5;Q8NEY1;Q8NEY1-3	.;NAV1_HUMAN;.	N	435;422;422;422;422;31	ENSP00000356271:D435N;ENSP00000356265:D422N;ENSP00000295624:D422N;ENSP00000356266:D422N;ENSP00000356269:D422N;ENSP00000356264:D31N	ENSP00000295624:D422N	D	+	1	0	NAV1	200016209	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.649000	0.98487	2.531000	0.85337	0.655000	0.94253	GAT	NAV1	-	NULL		0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201749586	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201749586	G	A	201749586	3	1	151	1	0	0	0	0	1	0	0	0	10206	1058	37	1	1335	1	NAV1	1	201749586	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	733296	201749586	47501035	92	24725										
FAIM3	9214	genome.wustl.edu	37	chr1	207086294	207086294	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctctggttacgaatttggaaGaactggcatatgcaggcatc	11	8	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:207086294G>A	ENST00000367091.3	-	3	610	c.467C>T	c.(466-468)tCt>tTt	p.S156F	FAIM3_ENST00000442471.2_Missense_Mutation_p.S44F|FAIM3_ENST00000420007.2_Missense_Mutation_p.S156F|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	156					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GAATTTGGAAGAACTGGCATA	0.483											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													234	227	229					1																	207086294		2203	4300	6503	SO:0001583	missense	9214			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.467C>T	1.37:g.207086294G>A	ENSP00000356058:p.Ser156Phe	2164	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.S156F	ENST00000367091.3	37	c.467	CCDS1473.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315365	0.60524	.	.	ENSG00000162894	ENST00000367091;ENST00000442471;ENST00000420007	T;T	0.27720	1.72;1.65	3.31	3.31	0.37934	.	0.669254	0.13157	N	0.409407	T	0.43100	0.1232	L	0.53249	1.67	0.09310	N	1	D;D;D	0.64830	0.987;0.994;0.991	P;P;P	0.57468	0.775;0.821;0.687	T	0.15896	-1.0421	10	0.72032	D	0.01	-1.1323	10.4117	0.44296	0.0:0.0:1.0:0.0	.	65;44;156	B7Z497;B7Z6Z0;O60667	.;.;FAIM3_HUMAN	F	156;44;156	ENSP00000356058:S156F;ENSP00000403356:S156F	ENSP00000356058:S156F	S	-	2	0	FAIM3	205152917	0.014000	0.17966	0.063000	0.19743	0.392000	0.30506	1.299000	0.33424	2.135000	0.66039	0.650000	0.86243	TCT	FAIM3	-	NULL		0.483	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	G	NM_005449		207086294	-1	no_errors	ENST00000367091	ensembl	human	known	70_37	missense	SNP	0.085	A	A	207086294	G	A	207086294	3	1	151	1	0	0	0	0	1	0	0	0	5392	942	33	1	729	1	FAIM3	1	207086294	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5336708	207086294	42164327	93	24726										
IRF6	3664	genome.wustl.edu	37	chr1	209961873	209961873	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctgcttcagctgagcaacGatgttatccttgatgtctgg	11	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:209961873G>C	ENST00000367021.3	-	9	1468	c.1296C>G	c.(1294-1296)atC>atG	p.I432M	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.I337M	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	432					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557										HNSCC(57;0.16)																																							0													98	88	92					1																	209961873		2203	4300	6503	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1296C>G	1.37:g.209961873G>C	ENSP00000355988:p.Ile432Met		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.I432M	ENST00000367021.3	37	c.1296	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	G	1.648	-0.514796	0.04200	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94793	-3.52;-3.52	5.45	-7.4	0.01397	SMAD domain-like (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	L	0.31207	0.915	0.38798	D	0.955138	B	0.33919	0.432	B	0.35353	0.201	T	0.73011	-0.4117	10	0.14656	T	0.56	.	17.2449	0.87025	0.7072:0.0:0.2928:0.0	.	432	O14896	IRF6_HUMAN	M	432;337	ENSP00000355988:I432M;ENSP00000440532:I337M	ENSP00000355988:I432M	I	-	3	3	IRF6	208028496	0.001000	0.12720	0.334000	0.25495	0.991000	0.79684	-1.777000	0.01780	-1.700000	0.01414	-0.355000	0.07637	ATC	IRF6	-	superfamily_SMAD_FHA_domain		0.557	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	G	NM_006147		209961873	-1	no_errors	ENST00000367021	ensembl	human	known	70_37	missense	SNP	0.134	C	C	209961873	G	C	209961873	3	2	151	1	0	0	0	0	1	0	0	0	7854	1048	37	1	111	1	IRF6	1	209961873	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2875579	209961873	39288748	94	24727										
INTS7	25896	genome.wustl.edu	37	chr1	212190329	212190329	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atactatgatgagcattcttCctctcaggaattattgatgc	7	8	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:212190329C>T	ENST00000366994.3	-	4	512	c.408G>A	c.(406-408)agG>agA	p.R136R	INTS7_ENST00000366993.3_Silent_p.R136R|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.R136R|INTS7_ENST00000440600.2_Silent_p.R87R	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	136					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAGCATTCTTCCTCTCAGGAA	0.393																																																	0													170	171	171					1																	212190329		2203	4300	6503	SO:0001819	synonymous_variant	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.408G>A	1.37:g.212190329C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	superfamily_ARM-type_fold	p.R136	ENST00000366994.3	37	c.408	CCDS1501.1	1																																																																																			INTS7	-	superfamily_ARM-type_fold		0.393	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212190329	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	silent	SNP	1.000	T	T	212190329	C	T	212190329	2	4	151	1	0	0	0	0	0	0	0	1	7803	854	30	1		1	INTS7	1	212190329	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2228456	212190329	37060292	95	24728										
TLR5	7100	genome.wustl.edu	37	chr1	223285705	223285705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atctccagcaccatgtttctGaatgggttcatacattttcc	6	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:223285705G>C	ENST00000540964.1	-	4	1130	c.669C>G	c.(667-669)ttC>ttG	p.F223L	TLR5_ENST00000342210.6_Missense_Mutation_p.F223L			O60602	TLR5_HUMAN	toll-like receptor 5	223					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCATGTTTCTGAATGGGTTCA	0.468																																																	0													80	74	76					1																	223285705		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.669C>G	1.37:g.223285705G>C	ENSP00000440643:p.Phe223Leu		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.F223L	ENST00000540964.1	37	c.669	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298544	0.40694	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.34275	1.37;1.37;1.37	5.45	4.54	0.55810	.	0.100559	0.64402	N	0.000001	T	0.42743	0.1216	M	0.69248	2.105	0.54753	D	0.999987	P	0.39809	0.689	P	0.45660	0.489	T	0.24261	-1.0165	10	0.28530	T	0.3	.	11.4797	0.50318	0.1452:0.0:0.8548:0.0	.	223	O60602	TLR5_HUMAN	L	223	ENSP00000440643:F223L;ENSP00000355846:F223L;ENSP00000340089:F223L	ENSP00000340089:F223L	F	-	3	2	TLR5	221352328	1.000000	0.71417	0.965000	0.40720	0.770000	0.43624	3.482000	0.53186	1.291000	0.44653	-0.150000	0.13652	TTC	TLR5	-	NULL		0.468	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		G	NM_003268		223285705	-1	no_errors	ENST00000342210	ensembl	human	known	70_37	missense	SNP	1.000	C	C	223285705	G	C	223285705	3	2	151	1	0	0	0	0	1	0	0	0	15984	1281	45	1	1911	1	TLR5	1	223285705	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11095376	223285705	25964916	96	24729										
TLR5	7100	genome.wustl.edu	37	chr1	223285920	223285920	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acgaatctgatttttggataGatccaagcgagttaaagcct	9	7	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:223285920G>C	ENST00000540964.1	-	4	915	c.454C>G	c.(454-456)Cta>Gta	p.L152V	TLR5_ENST00000342210.6_Missense_Mutation_p.L152V			O60602	TLR5_HUMAN	toll-like receptor 5	152					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTTTGGATAGATCCAAGCGA	0.358																																																	0													71	71	71					1																	223285920		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.454C>G	1.37:g.223285920G>C	ENSP00000440643:p.Leu152Val		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L152V	ENST00000540964.1	37	c.454	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513911	0.64522	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.76316	-1.01;-1.01;-1.01	5.03	4.11	0.48088	.	0.000000	0.64402	D	0.000001	D	0.89508	0.6735	M	0.90650	3.135	0.58432	D	0.999994	D	0.76494	0.999	D	0.97110	1.0	D	0.91482	0.5205	10	0.87932	D	0	.	13.8859	0.63708	0.0743:0.0:0.9257:0.0	.	152	O60602	TLR5_HUMAN	V	152	ENSP00000440643:L152V;ENSP00000355846:L152V;ENSP00000340089:L152V	ENSP00000340089:L152V	L	-	1	2	TLR5	221352543	1.000000	0.71417	0.981000	0.43875	0.785000	0.44390	4.838000	0.62803	1.240000	0.43803	-0.150000	0.13652	CTA	TLR5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.358	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		G	NM_003268		223285920	-1	no_errors	ENST00000342210	ensembl	human	known	70_37	missense	SNP	1.000	C	C	223285920	G	C	223285920	3	2	151	1	0	0	0	0	1	0	0	0	15984	933	33	1	2126	1	TLR5	1	223285920	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	215	223285920	25964701	97	24730										
WDR26	80232	genome.wustl.edu	37	chr1	224621580	224621580	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgccgggaaccccgttattGacattcaggctgttgctatt	10	12	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:224621580G>A	ENST00000414423.2	-	1	421	c.228C>T	c.(226-228)gtC>gtT	p.V76V	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_Silent_p.V76V	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CCCCGTTATTGACATTCAGGC	0.706																																																	0													17	24	22					1																	224621580		692	1591	2283	SO:0001819	synonymous_variant	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.228C>T	1.37:g.224621580G>A			A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V76	ENST00000414423.2	37	c.228	CCDS31037.2	1																																																																																			WDR26	-	NULL		0.706	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	G	NM_025160		224621580	-1	no_errors	ENST00000414423	ensembl	human	known	70_37	silent	SNP	1.000	A	A	224621580	G	A	224621580	2	1	151	1	0	0	0	0	0	0	0	1	17314	1277	45	1		1	WDR26	1	224621580	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1335660	224621580	24629041	98	24731										
C1orf95	375057	genome.wustl.edu	37	chr1	226784513	226784513	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctctcacagggacattcgtCtcggccttcactgtgctgtg	10	14	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:226784513C>G	ENST00000366788.3	+	2	318	c.213C>G	c.(211-213)gtC>gtG	p.V71V	C1orf95_ENST00000366789.4_Silent_p.V71V	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	71						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGACATTCGTCTCGGCCTTCA	0.627																																																	0													85	81	83					1																	226784513		2203	4300	6503	SO:0001819	synonymous_variant	375057			AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.213C>G	1.37:g.226784513C>G			A6NGL2	Silent	SNP	NULL	p.V71	ENST00000366788.3	37	c.213	CCDS31044.1	1																																																																																			C1orf95	-	NULL		0.627	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf95	HGNC	protein_coding	OTTHUMT00000091634.1	C	NM_001003665		226784513	1	no_errors	ENST00000366788	ensembl	human	known	70_37	silent	SNP	1.000	G	G	226784513	C	G	226784513	2	3	151	1	0	0	0	0	0	0	0	1	2077	900	32	1		1	C1orf95	1	226784513	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2162933	226784513	22466108	99	24732										
AGT	183	genome.wustl.edu	37	chr1	230846455	230846455	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagctgctcacaggtactctCattgtggatgacgaggtgga	13	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:230846455C>T	ENST00000366667.4	-	2	356	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	48					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGTACTCTCATTGTGGATG	0.597																																																	0													84	81	82					1																	230846455		2203	4300	6503	SO:0001583	missense	183			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.142G>A	1.37:g.230846455C>T	ENSP00000355627:p.Glu48Lys		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn	p.E48K	ENST00000366667.4	37	c.142	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	C	0.669	-0.802696	0.02841	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87412	-2.25	5.19	-1.2	0.09554	.	0.364043	0.31472	N	0.007583	T	0.57770	0.2076	N	0.01352	-0.895	0.19775	N	0.999954	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56498	-0.7969	10	0.07325	T	0.83	.	7.0338	0.24983	0.0:0.3456:0.1543:0.5001	.	48;48;48	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	K	48	ENSP00000355627:E48K	ENSP00000355627:E48K	E	-	1	0	AGT	228913078	0.004000	0.15560	0.186000	0.23195	0.018000	0.09664	-0.194000	0.09559	0.012000	0.14892	-0.367000	0.07326	GAG	AGT	-	NULL		0.597	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	C	NM_000029		230846455	-1	no_errors	ENST00000366667	ensembl	human	known	70_37	missense	SNP	0.017	T	T	230846455	C	T	230846455	3	4	151	1	0	0	0	0	1	0	0	0	399	835	29	1	1331	1	AGT	1	230846455	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4061942	230846455	18404166	100	24733										
LYST	1130	genome.wustl.edu	37	chr1	235964185	235964185	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttacctgttgcatgagcaGaaaaacattcttttctttct	5	8	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:235964185G>C	ENST00000389794.3	-	9	4099	c.3925C>G	c.(3925-3927)Ctg>Gtg	p.L1309V	LYST_ENST00000536965.1_Missense_Mutation_p.L1309V|LYST_ENST00000389793.2_Missense_Mutation_p.L1309V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1309					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCATGAGCAGAAAAACATTC	0.313																																																	0													39	39	39					1																	235964185		2203	4299	6502	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3925C>G	1.37:g.235964185G>C	ENSP00000374444:p.Leu1309Val		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1309V	ENST00000389794.3	37	c.3925	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942597	0.34283	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61980	0.06;0.06;1.15	6.16	4.1	0.47936	.	0.069978	0.56097	D	0.000021	T	0.62841	0.2461	L	0.48362	1.52	0.36449	D	0.865941	D;B	0.76494	0.999;0.034	D;B	0.85130	0.997;0.038	T	0.68372	-0.5426	10	0.02654	T	1	.	4.7415	0.13015	0.2224:0.2474:0.5302:0.0	.	1309;1309	Q99698-3;Q99698	.;LYST_HUMAN	V	1309	ENSP00000374444:L1309V;ENSP00000374443:L1309V;ENSP00000438315:L1309V	ENSP00000374443:L1309V	L	-	1	2	LYST	234030808	0.301000	0.24444	0.998000	0.56505	0.994000	0.84299	0.556000	0.23438	1.612000	0.50221	0.650000	0.86243	CTG	LYST	-	superfamily_ARM-type_fold		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235964185	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.995	C	C	235964185	G	C	235964185	3	2	151	1	0	0	0	0	1	0	0	0	9151	933	33	1	7660	1	LYST	1	235964185	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5117730	235964185	13286436	101	24734										
LYST	1130	genome.wustl.edu	37	chr1	235964366	235964366	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttggactgcttgatgcactGaaaccttctgtttcagactt	8	9	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:235964366G>A	ENST00000389794.3	-	9	3918	c.3744C>T	c.(3742-3744)ttC>ttT	p.F1248F	LYST_ENST00000536965.1_Silent_p.F1248F|LYST_ENST00000389793.2_Silent_p.F1248F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1248					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGATGCACTGAAACCTTCTG	0.343																																																	0													94	98	97					1																	235964366		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3744C>T	1.37:g.235964366G>A			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1248	ENST00000389794.3	37	c.3744	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold		0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235964366	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	silent	SNP	0.000	A	A	235964366	G	A	235964366	2	1	151	1	0	0	0	0	0	0	0	1	9151	1281	45	1		1	LYST	1	235964366	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	181	235964366	13286255	102	24735										
RYR2	6262	genome.wustl.edu	37	chr1	237765394	237765394	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcccaatgttttccagtttGagttgggaagaataaaggta	11	5	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:237765394G>C	ENST00000366574.2	+	35	4983	c.4666G>C	c.(4666-4668)Gag>Cag	p.E1556Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E1554Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E1540Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1556	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCCAGTTTGAGTTGGGAAG	0.294																																																	0													63	60	61					1																	237765394		1794	4068	5862	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4666G>C	1.37:g.237765394G>C	ENSP00000355533:p.Glu1556Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E1554Q	ENST00000366574.2	37	c.4660	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895429	0.91962	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69926	-0.44;-0.44;-0.44	5.63	5.63	0.86233	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000005	D	0.83723	0.5316	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85278	0.1060	10	0.87932	D	0	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	1556	Q92736	RYR2_HUMAN	Q	1556;1554;1540	ENSP00000355533:E1556Q;ENSP00000353174:E1554Q;ENSP00000443798:E1540Q	ENSP00000353174:E1554Q	E	+	1	0	RYR2	235832017	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.951000	0.87819	2.657000	0.90304	0.591000	0.81541	GAG	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.294	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237765394	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	C	C	237765394	G	C	237765394	3	2	151	1	0	0	0	0	1	0	0	0	13799	1291	45	1	4804	1	RYR2	1	237765394	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1801028	237765394	11485227	103	24736										
OR2W3	343171	genome.wustl.edu	37	chr1	248058947	248058947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctactgggattctctgaccGaccccatctggagaggatcc	10	14	2	2	rs200573092		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:248058947G>T	ENST00000360358.3	+	1	59	c.59G>T	c.(58-60)cGa>cTa	p.R20L	OR2W3_ENST00000537741.1_Missense_Mutation_p.R20L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20Q(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCTGACCGACCCCATCTG	0.512																																																	1	Substitution - Missense(1)	pancreas(1)											100	94	96					1																	248058947		2203	4300	6503	SO:0001583	missense	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.59G>T	1.37:g.248058947G>T	ENSP00000353516:p.Arg20Leu		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20L	ENST00000360358.3	37	c.59	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830283	0.32329	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.01076	5.37;5.37	5.29	-5.83	0.02325	.	0.654619	0.13888	N	0.355819	T	0.01061	0.0035	N	0.21373	0.66	0.09310	N	1	P	0.46784	0.884	P	0.45913	0.497	T	0.34925	-0.9809	10	0.59425	D	0.04	.	7.7002	0.28619	0.6371:0.0873:0.1869:0.0886	.	20	Q7Z3T1	OR2W3_HUMAN	L	20	ENSP00000445853:R20L;ENSP00000353516:R20L	ENSP00000353516:R20L	R	+	2	0	OR2W3	246125570	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-5.545000	0.00114	-1.138000	0.02884	-0.208000	0.12717	CGA	OR2W3	-	NULL		0.512	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	G	NM_001001957		248058947	1	no_errors	ENST00000360358	ensembl	human	known	70_37	missense	SNP	0.000	T	T	248058947	G	T	248058947	3	4	151	1	0	0	0	0	1	0	0	0	11057	1058	37	3	61	3	OR2W3	1	248058947	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10293553	248058947	1191674	104	24737										
MYT1L	23040	genome.wustl.edu	37	chr2	1895843	1895843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtcctgcggcttggtgctcAggttctgcggcatctcgcgg	16	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:1895843A>G	ENST00000399161.2	-	15	2996	c.2249T>C	c.(2248-2250)cTg>cCg	p.L750P	MYT1L_ENST00000428368.2_Missense_Mutation_p.L748P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	750					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTGGTGCTCAGGTTCTGCGG	0.716																																																	0													12	21	18					2																	1895843		1713	3183	4896	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2249T>C	2.37:g.1895843A>G	ENSP00000382114:p.Leu750Pro		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.L750P	ENST00000399161.2	37	c.2249		2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710016	0.89018	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.62105	0.05;0.05	4.93	4.93	0.64822	Myelin transcription factor 1 (1);	0.238696	0.39083	N	0.001465	T	0.79323	0.4426	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.952	T	0.82874	-0.0241	10	0.87932	D	0	-21.6021	14.5772	0.68258	1.0:0.0:0.0:0.0	.	750;748	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	P	750;696;748	ENSP00000382114:L750P;ENSP00000396103:L748P	ENSP00000295067:L696P	L	-	2	0	MYT1L	1874850	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.173000	0.94815	1.863000	0.54032	0.383000	0.25322	CTG	MYT1L	-	pfam_Myelin_TF		0.716	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	A	NM_015025		1895843	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1895843	A	G	1895843	3	3	151	1	0	0	0	0	1	0	0	0	10130	188	7	5	1355	5	MYT1L	2	1895843	Missense_Mutation	SNP	A	TCGA-IR-A3LH-01A-21D-A20U-09		1895843	241303530	105	24738										
NBAS	51594	genome.wustl.edu	37	chr2	15555687	15555687	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacatctggtttggaatgctGaaatatcttcaggggaaatt	10	5	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:15555687G>A	ENST00000281513.5	-	25	2945	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	974					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q974*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTGGAATGCTGAAATATCTTC	0.343																																																	1	Substitution - Nonsense(1)	lung(1)											56	62	60					2																	15555687		2203	4299	6502	SO:0001587	stop_gained	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2920C>T	2.37:g.15555687G>A	ENSP00000281513:p.Gln974*		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.Q974*	ENST00000281513.5	37	c.2920	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.947927|9.947927	0.99302|0.99302	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	974|71	.|.	ENSP00000281513:Q974X|.	Q|S	-|-	1|2	0|0	NBAS|NBAS	15473138|15473138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.231000|6.231000	0.72307|0.72307	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA	NBAS	-	pfam_Sec39		0.343	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	G	NM_015909		15555687	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	15555687	G	A	15555687	4	1	151	1	0	0	0	0	0	1	0	0	10209	1299	45	1	4307	1	NBAS	2	15555687	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	13659844	15555687	227643686	106	24739										
PUM2	23369	genome.wustl.edu	37	chr2	20458120	20458120	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agccagggctaatttttgatCcagactcccaaactgacaga	8	11	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:20458120C>G	ENST00000361078.2	-	15	2390	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H	PUM2_ENST00000403432.1_Missense_Mutation_p.D790H|PUM2_ENST00000338086.5_Missense_Mutation_p.D790H|PUM2_ENST00000319801.5_Missense_Mutation_p.D711H|PUM2_ENST00000536417.1_Missense_Mutation_p.D734H			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	790	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTTTGATCCAGACTCCCA	0.388																																																	0													93	91	92					2																	20458120		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2368G>C	2.37:g.20458120C>G	ENSP00000354370:p.Asp790His		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D790H	ENST00000361078.2	37	c.2368		2	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041268	0.55003	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	5.51	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.30236	0.274;0.1;0.062;0.007	B;B;B;B	0.36418	0.214;0.224;0.04;0.026	T	0.04976	-1.0914	10	0.66056	D	0.02	-14.2281	15.8994	0.79362	0.1364:0.8636:0.0:0.0	.	734;711;790;790	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	H	790;790;711;602;790;734	ENSP00000338173:D790H;ENSP00000354370:D790H;ENSP00000326746:D711H;ENSP00000409905:D602H;ENSP00000385992:D790H;ENSP00000440093:D734H	ENSP00000326746:D711H	D	-	1	0	PUM2	20321601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.760000	0.85248	1.408000	0.46895	0.655000	0.94253	GAT	PUM2	-	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.388	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		C	NM_015317		20458120	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20458120	C	G	20458120	3	3	151	1	0	0	0	0	1	0	0	0	12856	855	30	1	850	1	PUM2	2	20458120	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4902433	20458120	222741253	107	24740										
ASXL2	55252	genome.wustl.edu	37	chr2	26022384	26022384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaccttctgacagctctttCaccccatccggcacatcttt	5	16	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:26022384C>T	ENST00000435504.4	-	5	566	c.273G>A	c.(271-273)gtG>gtA	p.V91V	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Silent_p.V63V|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	91					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGCTCTTTCACCCCATCCG	0.428																																																	0													134	128	130					2																	26022384		2003	4173	6176	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.273G>A	2.37:g.26022384C>T			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	superfamily_Znf_FYVE_PHD	p.V91	ENST00000435504.4	37	c.273		2																																																																																			ASXL2	-	NULL		0.428	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	C	NM_018263		26022384	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	silent	SNP	0.999	T	T	26022384	C	T	26022384	2	4	151	1	0	0	0	0	0	0	0	1	1068	813	29	1		1	ASXL2	2	26022384	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5564264	26022384	217176989	108	24741										
TMEM214	54867	genome.wustl.edu	37	chr2	27260521	27260521	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctgcatacctacttcccttCtttcctgtccagagccaccc	4	19	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27260521C>G	ENST00000238788.9	+	9	1165	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	TMEM214_ENST00000404032.3_Missense_Mutation_p.S323C	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	368					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S368Y(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TACTTCCCTTCTTTCCTGTCC	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											115	116	116					2																	27260521		1942	4143	6085	SO:0001583	missense	54867				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1103C>G	2.37:g.27260521C>G	ENSP00000238788:p.Ser368Cys		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	pfam_DUF2359_TMEM214	p.S368C	ENST00000238788.9	37	c.1103	CCDS42664.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.827764|4.827764	0.90955|0.90955	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000425720|ENST00000238788;ENST00000404032;ENST00000537397	.|T;T	.|0.50813	.|0.73;0.73	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69993|0.69993	0.3173|0.3173	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.72174|0.72174	-0.4370|-0.4370	5|10	.|0.72032	.|D	.|0.01	-20.9244|-20.9244	17.5913|17.5913	0.87997|0.87997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|323;368	.|Q6NUQ4-2;Q6NUQ4	.|.;TM214_HUMAN	V|C	127|368;323;108	.|ENSP00000238788:S368C;ENSP00000384417:S323C	.|ENSP00000238788:S368C	L|S	+|+	1|2	0|0	TMEM214|TMEM214	27114025|27114025	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	7.298000|7.298000	0.78815|0.78815	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	CTT|TCT	TMEM214	-	pfam_DUF2359_TMEM214		0.572	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	C	NM_017727		27260521	1	no_errors	ENST00000238788	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27260521	C	G	27260521	3	3	151	1	0	0	0	0	1	0	0	0	16167	913	32	1	1137	1	TMEM214	2	27260521	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1238137	27260521	215938852	109	24742										
SNX17	9784	genome.wustl.edu	37	chr2	27597275	27597275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaccagccttcggagtcaaGagtataagattgtgctaagg	11	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27597275G>C	ENST00000233575.2	+	7	808	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.E171Q	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	196	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGAGTCAAGAGTATAAGAT	0.458																																																	0													72	80	77					2																	27597275		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.586G>C	2.37:g.27597275G>C	ENSP00000233575:p.Glu196Gln		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.E196Q	ENST00000233575.2	37	c.586	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687299	0.48097	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.76060	-0.99;-0.99	5.01	5.01	0.66863	Ras-association (1);	0.097715	0.64402	D	0.000001	T	0.54695	0.1874	N	0.19112	0.55	0.80722	D	1	P;B;B;P	0.38335	0.557;0.396;0.396;0.627	B;B;B;B	0.29663	0.062;0.074;0.047;0.105	T	0.56329	-0.7997	10	0.14252	T	0.57	-16.6825	15.1475	0.72667	0.0:0.0:1.0:0.0	.	171;184;176;196	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	Q	196;171	ENSP00000233575:E196Q;ENSP00000439208:E171Q	ENSP00000233575:E196Q	E	+	1	0	SNX17	27450779	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.260000	0.89857	2.607000	0.88179	0.561000	0.74099	GAG	SNX17	-	pfscan_Ras-assoc		0.458	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	G	NM_014748		27597275	1	no_errors	ENST00000233575	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27597275	G	C	27597275	3	2	151	1	0	0	0	0	1	0	0	0	14918	943	33	1	612	1	SNX17	2	27597275	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	336754	27597275	215602098	110	24743										
ZNF512	84450	genome.wustl.edu	37	chr2	27830880	27830880	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcccaagaggaaggtgcttCaggacctggtacctgatgat	14	9	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27830880C>G	ENST00000355467.4	+	10	1188	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	ZNF512_ENST00000416005.2_Missense_Mutation_p.Q340E|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q368E|ZNF512_ENST00000556601.1_Missense_Mutation_p.Q238E|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q292E|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAGGTGCTTCAGGACCTGGT	0.488																																																	0													74	65	68					2																	27830880		2203	4300	6503	SO:0001583	missense	84450			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1105C>G	2.37:g.27830880C>G	ENSP00000347648:p.Gln369Glu		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q369E	ENST00000355467.4	37	c.1105	CCDS1758.1	2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914706	0.52546	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.98	5.98	0.97165	.	0.269338	0.39083	N	0.001462	T	0.44244	0.1284	L	0.28274	0.84	0.36091	D	0.843441	P;P;P	0.47762	0.779;0.779;0.9	B;B;P	0.46718	0.262;0.428;0.525	T	0.38628	-0.9652	9	0.05959	T	0.93	-14.2534	17.2403	0.87011	0.0:1.0:0.0:0.0	.	264;340;369	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	E	368;369;238;340;292	.	ENSP00000347648:Q369E	Q	+	1	0	ZNF512	27684384	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.279000	0.51670	2.861000	0.98227	0.650000	0.86243	CAG	ZNF512	-	NULL		0.488	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	C	NM_032434		27830880	1	no_errors	ENST00000355467	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27830880	C	G	27830880	3	3	151	1	0	0	0	0	1	0	0	0	17986	827	29	1	1143	1	ZNF512	2	27830880	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	233605	27830880	215368493	111	24744										
SUPT7L	9913	genome.wustl.edu	37	chr2	27880316	27880316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaatacctgctccatcacatCaggaaaaggagtctgtccca	8	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27880316C>T	ENST00000337768.5	-	4	1209	c.640G>A	c.(640-642)Gat>Aat	p.D214N	SUPT7L_ENST00000464789.2_Missense_Mutation_p.D212N|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D212N|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D212N|SUPT7L_ENST00000404798.2_Missense_Mutation_p.D79N	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	214					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TCCATCACATCAGGAAAAGGA	0.517																																																	0													78	81	80					2																	27880316		2021	4183	6204	SO:0001583	missense	9913			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.640G>A	2.37:g.27880316C>T	ENSP00000336750:p.Asp214Asn		B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	pfam_BTP,smart_BTP	p.D214N	ENST00000337768.5	37	c.640	CCDS42667.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.206441	0.95033	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.57	5.57	0.84162	Bromodomain transcription factor (2);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	L	0.49126	1.545	0.80722	D	1	P;P;P	0.47484	0.896;0.711;0.754	P;B;P	0.56612	0.802;0.359;0.491	T	0.71695	-0.4515	9	0.49607	T	0.09	-16.1877	19.5422	0.95278	0.0:1.0:0.0:0.0	.	79;212;214	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	N	214;212;212;212;79	.	ENSP00000336750:D214N	D	-	1	0	SUPT7L	27733820	1.000000	0.71417	0.240000	0.24138	0.834000	0.47266	7.730000	0.84881	2.604000	0.88044	0.561000	0.74099	GAT	SUPT7L	-	pfam_BTP,smart_BTP		0.517	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	C	NM_014860		27880316	-1	no_errors	ENST00000337768	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27880316	C	T	27880316	3	4	151	1	0	0	0	0	1	0	0	0	15431	826	29	1	616	1	SUPT7L	2	27880316	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	49436	27880316	215319057	112	24745										
PRKD3	23683	genome.wustl.edu	37	chr2	37543598	37543598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgaacacggagaagcagctgGaagcacagcaggaatagctg	14	8	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:37543598G>A	ENST00000379066.1	-	2	832	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P24S|PRKD3_ENST00000477132.1_5'Flank			O94806	KPCD3_HUMAN	protein kinase D3	24					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAAGCAGCTGGAAGCACAGCA	0.473																																					Melanoma(80;621 1355 8613 11814 51767)												0													82	79	80					2																	37543598		2203	4300	6503	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.70C>T	2.37:g.37543598G>A	ENSP00000368356:p.Pro24Ser		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.P24S	ENST00000379066.1	37	c.70	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965140	0.53507	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64438	-0.1;-0.1	5.67	4.76	0.60689	.	0.200372	0.44285	D	0.000468	T	0.59018	0.2163	L	0.61218	1.895	0.43199	D	0.995046	B;B	0.30634	0.288;0.084	B;B	0.33690	0.168;0.051	T	0.54234	-0.8324	10	0.13470	T	0.59	-11.4051	15.0832	0.72130	0.0:0.1403:0.8597:0.0	.	24;24	O94806-2;O94806	.;KPCD3_HUMAN	S	24	ENSP00000368356:P24S;ENSP00000234179:P24S	ENSP00000234179:P24S	P	-	1	0	PRKD3	37397102	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.509000	0.53386	2.665000	0.90641	0.591000	0.81541	CCA	PRKD3	-	NULL		0.473	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	G	NM_005813		37543598	-1	no_errors	ENST00000234179	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37543598	G	A	37543598	3	1	151	1	0	0	0	0	1	0	0	0	12547	1174	41	1	2674	1	PRKD3	2	37543598	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9663282	37543598	205655775	113	24746										
SRBD1	55133	genome.wustl.edu	37	chr2	45808930	45808930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aattttctggattgtactatGaactttctttgcaacagccc	6	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:45808930G>A	ENST00000263736.4	-	6	897	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	279					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTGTACTATGAACTTTCTTT	0.343																																																	0													93	92	92					2																	45808930		2201	4299	6500	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.835C>T	2.37:g.45808930G>A	ENSP00000263736:p.His279Tyr		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.H279Y	ENST00000263736.4	37	c.835	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848084	0.02651	.	.	ENSG00000068784	ENST00000263736	T	0.42513	0.97	5.32	2.57	0.30868	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.157543	0.42548	N	0.000694	T	0.29976	0.0750	L	0.31294	0.92	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.07065	-1.0792	10	0.59425	D	0.04	.	10.3792	0.44101	0.2156:0.0:0.7844:0.0	.	279	Q8N5C6	SRBD1_HUMAN	Y	279	ENSP00000263736:H279Y	ENSP00000263736:H279Y	H	-	1	0	SRBD1	45662434	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	3.891000	0.56227	0.253000	0.21552	0.467000	0.42956	CAT	SRBD1	-	pfam_Tex-like_N		0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	G	NM_018079		45808930	-1	no_errors	ENST00000263736	ensembl	human	known	70_37	missense	SNP	0.903	A	A	45808930	G	A	45808930	3	1	151	1	0	0	0	0	1	0	0	0	15163	1290	45	1	2216	1	SRBD1	2	45808930	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8265332	45808930	197390443	114	24747										
PRKCE	5581	genome.wustl.edu	37	chr2	46378297	46378297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acaatgaggacgacctatttGagtccatcctccatgacgac	8	12	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:46378297G>A	ENST00000306156.3	+	13	2176	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CGACCTATTTGAGTCCATCCT	0.587																																																	0													81	76	78					2																	46378297		2061	4070	6131	SO:0001583	missense	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1849G>A	2.37:g.46378297G>A	ENSP00000306124:p.Glu617Lys		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E617K	ENST00000306156.3	37	c.1849	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.837287	0.97009	.	.	ENSG00000171132	ENST00000306156	T	0.52754	0.65	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	N	0.20530	0.585	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.60078	-0.7333	10	0.62326	D	0.03	.	19.3311	0.94288	0.0:0.0:1.0:0.0	.	617	Q02156	KPCE_HUMAN	K	617	ENSP00000306124:E617K	ENSP00000306124:E617K	E	+	1	0	PRKCE	46231801	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.813000	0.96785	0.655000	0.94253	GAG	PRKCE	-	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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom		0.587	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	G			46378297	1	no_errors	ENST00000306156	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46378297	G	A	46378297	3	1	151	1	0	0	0	0	1	0	0	0	12538	1291	45	1	1899	1	PRKCE	2	46378297	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	569367	46378297	196821076	115	24748										
SOCS5	9655	genome.wustl.edu	37	chr2	46986242	46986242	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgggcttgtgttttcccatGagaacttacagcaagcagtc	11	9	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:46986242G>C	ENST00000306503.5	+	2	745	c.573G>C	c.(571-573)atG>atC	p.M191I	SOCS5_ENST00000394861.2_Missense_Mutation_p.M191I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	191					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTCCCATGAGAACTTACA	0.438																																																	0													56	56	56					2																	46986242		2199	4287	6486	SO:0001583	missense	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.573G>C	2.37:g.46986242G>C	ENSP00000305133:p.Met191Ile		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.M191I	ENST00000306503.5	37	c.573	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306936	0.01353	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.23754	1.89;1.89	5.65	4.77	0.60923	.	0.252292	0.46758	N	0.000271	T	0.09379	0.0231	N	0.03608	-0.345	0.38433	D	0.946491	B	0.02656	0.0	B	0.04013	0.001	T	0.15122	-1.0448	10	0.05436	T	0.98	-12.2328	9.7853	0.40673	0.0733:0.1402:0.7865:0.0	.	191	O75159	SOCS5_HUMAN	I	191	ENSP00000305133:M191I;ENSP00000378330:M191I	ENSP00000305133:M191I	M	+	3	0	SOCS5	46839746	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.712000	0.47186	1.630000	0.50440	0.655000	0.94253	ATG	SOCS5	-	pfam_SOCS		0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	G			46986242	1	no_errors	ENST00000306503	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46986242	G	C	46986242	3	2	151	1	0	0	0	0	1	0	0	0	14947	1290	45	1	575	1	SOCS5	2	46986242	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	607945	46986242	196213131	116	24749										
MDH1	4190	genome.wustl.edu	37	chr2	63833082	63833082	+	Frame_Shift_Del	DEL	G	G	-													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttattttcagggagagtttGtgtccatgggtgttatctct							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:63833082delG	ENST00000233114.8	+	8	1234	c.799delG	c.(799-801)gtgfs	p.V267fs	MDH1_ENST00000544381.1_Frame_Shift_Del_p.V178fs|MDH1_ENST00000394423.1_Frame_Shift_Del_p.V267fs|MDH1_ENST00000409908.1_Frame_Shift_Del_p.V102fs|MDH1_ENST00000409476.1_Frame_Shift_Del_p.V143fs|MDH1_ENST00000539945.1_Frame_Shift_Del_p.V285fs	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	267					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GGGAGAGTTTGTGTCCATGGG	0.378																																																	0													379	348	359					2																	63833082		2203	4300	6503	SO:0001589	frameshift_variant	4190				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.799delG	2.37:g.63833082delG	ENSP00000233114:p.Val267fs		B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Frame_Shift_Del	DEL	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	p.V285fs	ENST00000233114.8	37	c.853	CCDS1874.1	2																																																																																			MDH1	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2		0.378	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH1	HGNC	protein_coding	OTTHUMT00000251687.1	G			63833082	1	no_errors	ENST00000539945	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	63833082	G	-	63833082	7	5	151	1	0	1	0	1	0	0	0	0	9431	1377	48	0	829	0	MDH1	2	63833082	Frame_Shift_Del	DEL	G	TCGA-IR-A3LH-01A-21D-A20U-09	16846840	63833082	179366291	117	24750										
UGP2	7360	genome.wustl.edu	37	chr2	64117251	64117251	+	Missense_Mutation	SNP	G	G	C													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagatttgaaagtataccaGatatgcttgaattggatcac							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:64117251G>C	ENST00000337130.5	+	9	1827	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	UGP2_ENST00000445915.2_Missense_Mutation_p.D460H|UGP2_ENST00000467648.2_Missense_Mutation_p.D440H|UGP2_ENST00000394417.2_Missense_Mutation_p.D440H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	451					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AAGTATACCAGATATGCTTGA	0.294																																																	0													88	91	90					2																	64117251		2202	4299	6501	SO:0001583	missense	7360				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1351G>C	2.37:g.64117251G>C	ENSP00000338703:p.Asp451His		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.D451H	ENST00000337130.5	37	c.1351	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865095	0.91511	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.78637	2.42	0.80722	D	1	P;P	0.40909	0.732;0.732	P;P	0.56563	0.801;0.801	T	0.33007	-0.9885	10	0.56958	D	0.05	-40.287	20.0953	0.97838	0.0:0.0:1.0:0.0	.	460;451	E7EUC7;Q16851	.;UGPA_HUMAN	H	440;440;451;460	ENSP00000377939:D440H;ENSP00000420793:D440H;ENSP00000338703:D451H;ENSP00000411803:D460H	ENSP00000338703:D451H	D	+	1	0	UGP2	63970755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	GAT	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.294	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	G	NM_006759		64117251	1	no_errors	ENST00000337130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64117251	G	C	64117251	3	2	151	1	0	0	0	0	1	0	0	0	16974	942	33	1	1385	1	UGP2	2	64117251	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	284169	64117251	179082122	118	24751	140	2								
UGP2	7360	genome.wustl.edu	37	chr2	64117260	64117260	+	Missense_Mutation	SNP	G	G	C													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaagtataccagatatgcttGaattggatcacctcacagtt							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:64117260G>C	ENST00000337130.5	+	9	1836	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	UGP2_ENST00000445915.2_Missense_Mutation_p.E463Q|UGP2_ENST00000467648.2_Missense_Mutation_p.E443Q|UGP2_ENST00000394417.2_Missense_Mutation_p.E443Q	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	454					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGATATGCTTGAATTGGATCA	0.303																																																	0													92	96	95					2																	64117260		2202	4299	6501	SO:0001583	missense	7360				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1360G>C	2.37:g.64117260G>C	ENSP00000338703:p.Glu454Gln		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.E454Q	ENST00000337130.5	37	c.1360	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.132389	0.94473	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61722	0.893;0.893	T	0.48328	-0.9045	10	0.54805	T	0.06	-0.8442	20.0953	0.97838	0.0:0.0:1.0:0.0	.	463;454	E7EUC7;Q16851	.;UGPA_HUMAN	Q	443;443;454;463	ENSP00000377939:E443Q;ENSP00000420793:E443Q;ENSP00000338703:E454Q;ENSP00000411803:E463Q	ENSP00000338703:E454Q	E	+	1	0	UGP2	63970764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	GAA	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.303	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	G	NM_006759		64117260	1	no_errors	ENST00000337130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64117260	G	C	64117260	3	2	151	1	0	0	0	0	1	0	0	0	16974	1291	45	1	1394	1	UGP2	2	64117260	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9	64117260	179082113	119	24752	140	2								
AFTPH	54812	genome.wustl.edu	37	chr2	64800109	64800109	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagcccaccaaggaaccactGaaaccactttctgctgcaga	8	14	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:64800109G>A	ENST00000422803.1	+	6	2615	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	AFTPH_ENST00000238855.7_Silent_p.L767L|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Silent_p.L398L|AFTPH_ENST00000238856.4_Silent_p.L767L|AFTPH_ENST00000409933.1_Silent_p.L767L			Q6ULP2	AFTIN_HUMAN	aftiphilin	767					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGGAACCACTGAAACCACTTT	0.428																																																	0													139	139	139					2																	64800109		2203	4300	6503	SO:0001819	synonymous_variant	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2301G>A	2.37:g.64800109G>A			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	NULL	p.L767	ENST00000422803.1	37	c.2301		2																																																																																			AFTPH	-	NULL		0.428	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		G	NM_017657		64800109	1	no_errors	ENST00000422803	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64800109	G	A	64800109	2	1	151	1	0	0	0	0	0	0	0	1	364	1277	45	1		1	AFTPH	2	64800109	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	682849	64800109	178399264	120	24753										
GFPT1	2673	genome.wustl.edu	37	chr2	69575310	69575310	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caaaaactttcacccttcatGatctgctggagttccatctg	6	12	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:69575310G>A	ENST00000357308.4	-	11	1180	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	GFPT1_ENST00000361060.5_Silent_p.I316I	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	334	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CACCCTTCATGATCTGCTGGA	0.413																																																	0													167	155	159					2																	69575310		2203	4300	6503	SO:0001819	synonymous_variant	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1002C>T	2.37:g.69575310G>A			Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.I334	ENST00000357308.4	37	c.1002	CCDS58713.1	2																																																																																			GFPT1	-	tigrfam_GlmS_trans		0.413	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		G			69575310	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69575310	G	A	69575310	2	1	151	1	0	0	0	0	0	0	0	1	6364	1280	45	1		1	GFPT1	2	69575310	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4775201	69575310	173624063	121	24754										
ZNF638	27332	genome.wustl.edu	37	chr2	71576778	71576778	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagtacgtatttatgatcctGaaattccaactgatgaggtc	8	7	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:71576778G>C	ENST00000409544.1	+	2	1324	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF638_ENST00000377802.2_Missense_Mutation_p.E232Q|ZNF638_ENST00000355812.3_Missense_Mutation_p.E232Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E232Q|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	232					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTATGATCCTGAAATTCCAAC	0.383																																																	0													113	113	113					2																	71576778		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.694G>C	2.37:g.71576778G>C	ENSP00000386433:p.Glu232Gln		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E232Q	ENST00000409544.1	37	c.694	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868245	0.51588	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.78595	-0.6;-1.19;-0.05;-0.6;0.94;0.94	5.84	4.97	0.65823	.	0.255160	0.38217	N	0.001764	T	0.79947	0.4534	N	0.24115	0.695	0.33381	D	0.574856	D;D;D;D;D	0.71674	0.996;0.996;0.998;0.997;0.996	D;D;D;D;D	0.80764	0.986;0.986;0.994;0.986;0.986	D	0.85624	0.1266	10	0.87932	D	0	-21.6202	12.5451	0.56195	0.0:0.0:0.8335:0.1665	.	338;232;232;232;232	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	Q	232;338;232;232;232;232	ENSP00000386669:E232Q;ENSP00000438189:E338Q;ENSP00000348066:E232Q;ENSP00000367033:E232Q;ENSP00000264447:E232Q;ENSP00000386433:E232Q	ENSP00000264447:E232Q	E	+	1	0	ZNF638	71430286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.301000	0.59086	1.482000	0.48325	-0.127000	0.14921	GAA	ZNF638	-	NULL		0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71576778	1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71576778	G	C	71576778	3	2	151	1	0	0	0	0	1	0	0	0	18085	1291	45	1	696	1	ZNF638	2	71576778	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2001468	71576778	171622595	122	24755										
ALMS1	7840	genome.wustl.edu	37	chr2	73675942	73675942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accagcagtacagtctagttCttactcacaaagagaaaagc	7	10	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:73675942C>T	ENST00000264448.6	+	8	2396	c.2285C>T	c.(2284-2286)tCt>tTt	p.S762F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S762F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S720F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	762	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGTCTAGTTCTTACTCACAA	0.453																																																	0													148	147	147					2																	73675942		1880	4114	5994	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2285C>T	2.37:g.73675942C>T	ENSP00000264448:p.Ser762Phe		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.S762F	ENST00000264448.6	37	c.2285	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650855	0.47362	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19250	3.05;3.04;2.16	4.43	1.55	0.23275	.	1.404420	0.04535	N	0.387099	T	0.35537	0.0935	L	0.48642	1.525	0.09310	N	1	D;D;D	0.76494	0.999;0.995;0.97	D;D;P	0.67548	0.952;0.938;0.769	T	0.10086	-1.0645	10	0.72032	D	0.01	.	3.5457	0.07828	0.2267:0.558:0.0:0.2153	.	762;720;762	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	720;762;762	ENSP00000386627:S720F;ENSP00000264448:S762F;ENSP00000366944:S762F	ENSP00000264448:S762F	S	+	2	0	ALMS1	73529450	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.422000	0.21296	0.340000	0.23745	0.591000	0.81541	TCT	ALMS1	-	NULL		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73675942	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.000	T	T	73675942	C	T	73675942	3	4	151	1	0	0	0	0	1	0	0	0	535	913	32	1	2315	1	ALMS1	2	73675942	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2099164	73675942	169523431	123	24756										
DGUOK	1716	genome.wustl.edu	37	chr2	74173878	74173878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caaagtcttggaaacttgctGgatatgatgtaccgggagcc	12	8	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:74173878G>A	ENST00000264093.4	+	3	373	c.288G>A	c.(286-288)ctG>ctA	p.L96L	DGUOK_ENST00000462685.1_3'UTR|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000348222.1_Silent_p.L96L|DGUOK_ENST00000356837.6_Silent_p.L74L	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	96					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GAAACTTGCTGGATATGATGT	0.478																																																	0													81	73	76					2																	74173878		2203	4300	6503	SO:0001819	synonymous_variant	1716			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.288G>A	2.37:g.74173878G>A			P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	NULL	p.G59R	ENST00000264093.4	37	c.175	CCDS1931.1	2																																																																																			DGUOK	-	NULL		0.478	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	G			74173878	1	no_errors	ENST00000418996	ensembl	human	known	70_37	missense	SNP	0.998	A	A	74173878	G	A	74173878	2	1	151	1	0	0	0	0	0	0	0	1	4485	1335	47	4		4	DGUOK	2	74173878	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	497936	74173878	169025495	124	24757										
WBP1	23559	genome.wustl.edu	37	chr2	74685750	74685750	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atggctcgggccagcagcggGaacggcagcgaggaggcctg	19	11	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:74685750G>C	ENST00000233615.2	+	1	295	c.21G>C	c.(19-21)ggG>ggC	p.G7G	WBP1_ENST00000409737.1_Silent_p.G7G|WBP1_ENST00000393972.3_Silent_p.G7G|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	7							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCAGCAGCGGGAACGGCAGCG	0.662																																																	0													11	13	13					2																	74685750		2153	4223	6376	SO:0001819	synonymous_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.21G>C	2.37:g.74685750G>C			B2RE02|O95637	Silent	SNP	pfam_Uncharacterised_WW-bd	p.G7	ENST00000233615.2	37	c.21	CCDS1943.1	2																																																																																			WBP1	-	NULL		0.662	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	G	NM_012477		74685750	1	no_errors	ENST00000233615	ensembl	human	known	70_37	silent	SNP	0.999	C	C	74685750	G	C	74685750	2	2	151	1	0	0	0	0	0	0	0	1	17288	1161	41	1		1	WBP1	2	74685750	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	511872	74685750	168513623	125	24758										
DNAH6	1768	genome.wustl.edu	37	chr2	84851722	84851722	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atatttgggtgcatgcccaaGattggttattactccactca	8	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:84851722G>C	ENST00000237449.6	+	27	4339	c.4331G>C	c.(4330-4332)aGa>aCa	p.R1444T	DNAH6_ENST00000398278.2_Missense_Mutation_p.R1444T|DNAH6_ENST00000389394.3_Missense_Mutation_p.R1444T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1444	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCATGCCCAAGATTGGTTATT	0.388																																																	0													181	146	157					2																	84851722		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4331G>C	2.37:g.84851722G>C	ENSP00000237449:p.Arg1444Thr		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1444T	ENST00000237449.6	37	c.4331	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698280	0.68386	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.14640	2.49;2.49;2.49	5.51	4.64	0.57946	.	.	.	.	.	T	0.47911	0.1471	H	0.94808	3.585	0.35017	D	0.757427	D	0.89917	1.0	D	0.85130	0.997	T	0.70676	-0.4806	9	0.54805	T	0.06	.	13.3258	0.60459	0.0775:0.0:0.9225:0.0	.	1444	Q9C0G6	DYH6_HUMAN	T	1444	ENSP00000374045:R1444T;ENSP00000381326:R1444T;ENSP00000237449:R1444T	ENSP00000237449:R1444T	R	+	2	0	DNAH6	84705233	1.000000	0.71417	0.967000	0.41034	0.999000	0.98932	9.619000	0.98369	1.324000	0.45282	0.655000	0.94253	AGA	DNAH6	-	NULL		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84851722	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	C	C	84851722	G	C	84851722	3	2	151	1	0	0	0	0	1	0	0	0	4615	942	33	1	4437	1	DNAH6	2	84851722	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10165972	84851722	158347651	126	24759										
DNAH6	1768	genome.wustl.edu	37	chr2	84934134	84934134	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acaaaggtgtaaatgaaaaaGaaagcctgggtaagtaactc	10	5	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:84934134G>C	ENST00000237449.6	+	52	8850	c.8842G>C	c.(8842-8844)Gaa>Caa	p.E2948Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.E2948Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2948	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAATGAAAAAGAAAGCCTGGG	0.368																																																	0													87	70	75					2																	84934134		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.8842G>C	2.37:g.84934134G>C	ENSP00000237449:p.Glu2948Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2948Q	ENST00000237449.6	37	c.8842	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919793	0.17982	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.74106	-0.81;-0.81	5.73	5.73	0.89815	Dynein heavy chain, coiled coil stalk (1);	0.121662	0.36972	N	0.002306	T	0.60405	0.2266	N	0.13098	0.295	0.80722	D	1	B	0.25105	0.118	B	0.25987	0.065	T	0.56208	-0.8017	10	0.14252	T	0.57	.	18.6734	0.91519	0.0:0.0:1.0:0.0	.	2948	Q9C0G6	DYH6_HUMAN	Q	2948	ENSP00000374045:E2948Q;ENSP00000237449:E2948Q	ENSP00000237449:E2948Q	E	+	1	0	DNAH6	84787645	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.737000	0.68606	2.706000	0.92434	0.563000	0.77884	GAA	DNAH6	-	NULL		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84934134	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	C	C	84934134	G	C	84934134	3	2	151	1	0	0	0	0	1	0	0	0	4615	943	33	1	9048	1	DNAH6	2	84934134	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	82412	84934134	158265239	127	24760										
GGCX	2677	genome.wustl.edu	37	chr2	85777799	85777799	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctaagaaaggtctgaaccaGaggtgttggctcagggcccc	13	10	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:85777799G>C	ENST00000233838.4	-	14	2043	c.1963C>G	c.(1963-1965)Ctg>Gtg	p.L655V	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.L598V	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	655					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GTCTGAACCAGAGGTGTTGGC	0.532																																																	0													117	126	123					2																	85777799		2203	4300	6503	SO:0001583	missense	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1963C>G	2.37:g.85777799G>C	ENSP00000233838:p.Leu655Val		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.L655V	ENST00000233838.4	37	c.1963	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121160	0.37436	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.28454	1.61;1.61	5.48	3.68	0.42216	.	0.148380	0.46145	D	0.000302	T	0.22859	0.0552	N	0.16307	0.4	0.34647	D	0.721288	B;D;B	0.53312	0.059;0.959;0.431	B;P;B	0.47744	0.026;0.556;0.065	T	0.24835	-1.0149	10	0.31617	T	0.26	-11.4427	10.2591	0.43416	0.1621:0.0:0.8379:0.0	.	598;471;655	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	V	655;598	ENSP00000233838:L655V;ENSP00000408045:L598V	ENSP00000233838:L655V	L	-	1	2	GGCX	85631310	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.520000	0.35899	0.791000	0.33826	-0.150000	0.13652	CTG	GGCX	-	NULL		0.532	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	G	NM_000821		85777799	-1	no_errors	ENST00000233838	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85777799	G	C	85777799	3	2	151	1	0	0	0	0	1	0	0	0	6375	933	33	1	321	1	GGCX	2	85777799	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	843665	85777799	157421574	128	24761										
VAMP5	10791	genome.wustl.edu	37	chr2	85820264	85820264	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccaggatgcaggcattgcctCagggcctgggaactgaccca	13	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:85820264C>G	ENST00000306384.4	+	3	418	c.335C>G	c.(334-336)tCa>tGa	p.S112*	RNF181_ENST00000306368.4_5'Flank|RNF181_ENST00000441634.1_5'Flank	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	112					cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						GGCATTGCCTCAGGGCCTGGG	0.582																																																	0													142	116	125					2																	85820264		2203	4300	6503	SO:0001587	stop_gained	10791			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.335C>G	2.37:g.85820264C>G	ENSP00000305647:p.Ser112*		Q9P0T2	Nonsense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.S112*	ENST00000306384.4	37	c.335	CCDS1980.1	2	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297677	0.40694	.	.	ENSG00000168899	ENST00000306384	.	.	.	4.48	3.59	0.41128	.	0.671285	0.11504	N	0.557449	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.4518	0.27242	0.0:0.8794:0.0:0.1206	.	.	.	.	X	112	.	ENSP00000305647:S112X	S	+	2	0	VAMP5	85673775	0.001000	0.12720	0.280000	0.24747	0.632000	0.37999	0.412000	0.21131	1.077000	0.40990	0.655000	0.94253	TCA	VAMP5	-	NULL		0.582	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP5	HGNC	protein_coding	OTTHUMT00000252484.2	C	NM_006634		85820264	1	no_errors	ENST00000306384	ensembl	human	known	70_37	nonsense	SNP	0.050	G	G	85820264	C	G	85820264	4	3	151	1	0	0	0	0	0	1	0	0	17147	838	29	1	345	1	VAMP5	2	85820264	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	42465	85820264	157379109	129	24762										
SMYD1	150572	genome.wustl.edu	37	chr2	88409911	88409911	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagatggagctacgcatgttCcgccagaacgaattcatgta	11	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:88409911C>T	ENST00000419482.2	+	10	1438	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.F438F	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	451					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACGCATGTTCCGCCAGAACG	0.572																																																	0													86	67	74					2																	88409911		2203	4300	6503	SO:0001819	synonymous_variant	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1353C>T	2.37:g.88409911C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.F451	ENST00000419482.2	37	c.1353	CCDS33240.1	2																																																																																			SMYD1	-	NULL		0.572	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	C	XM_097915		88409911	1	no_errors	ENST00000419482	ensembl	human	known	70_37	silent	SNP	1.000	T	T	88409911	C	T	88409911	2	4	151	1	0	0	0	0	0	0	0	1	14851	854	30	1		1	SMYD1	2	88409911	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2589647	88409911	154789462	130	24763										
EIF2AK3	9451	genome.wustl.edu	37	chr2	88861854	88861854	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggatacagcaattcaaataGaatcaggcctaaagaaaaga	8	6	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:88861854G>C	ENST00000303236.3	-	15	3341	c.3040C>G	c.(3040-3042)Cta>Gta	p.L1014V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.L863V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AATTCAAATAGAATCAGGCCT	0.343																																					GBM(138;671 1851 16235 39058 45249)												0													59	62	61					2																	88861854		2203	4299	6502	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3040C>G	2.37:g.88861854G>C	ENSP00000307235:p.Leu1014Val		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1014V	ENST00000303236.3	37	c.3040	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355431	0.61293	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.28255	1.62;1.62;1.62	5.35	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.48059	0.1479	L	0.60904	1.88	0.51012	D	0.999903	D	0.76494	0.999	D	0.85130	0.997	T	0.46624	-0.9178	10	0.62326	D	0.03	-12.4135	8.9038	0.35510	0.2248:0.0:0.7752:0.0	.	1014	Q9NZJ5	E2AK3_HUMAN	V	863;1014;863;893	ENSP00000408325:L863V;ENSP00000307235:L1014V;ENSP00000412076:L893V	ENSP00000307235:L1014V	L	-	1	2	EIF2AK3	88642969	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.933000	0.63484	1.411000	0.46957	-0.373000	0.07131	CTA	EIF2AK3	-	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		0.343	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	G	NM_004836		88861854	-1	no_errors	ENST00000303236	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88861854	G	C	88861854	3	2	151	1	0	0	0	0	1	0	0	0	5008	933	33	1	322	1	EIF2AK3	2	88861854	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	451943	88861854	154337519	131	24764										
KCNIP3	30818	genome.wustl.edu	37	chr2	96048139	96048139	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccaggagatgctggccatCatgaagtccatctatgacat	9	11	2	3	rs371878238		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:96048139C>G	ENST00000295225.5	+	7	705	c.570C>G	c.(568-570)atC>atG	p.I190M	KCNIP3_ENST00000360990.3_Missense_Mutation_p.I168M|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.I164M	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGCTGGCCATCATGAAGTCCA	0.662																																																	0													27	26	26					2																	96048139		2202	4300	6502	SO:0001583	missense	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.570C>G	2.37:g.96048139C>G	ENSP00000295225:p.Ile190Met		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.I190M	ENST00000295225.5	37	c.570	CCDS2013.1	2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309190	0.60414	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.71934	-0.61;-0.61;-0.61	5.22	3.42	0.39159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.58302	1.8	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75789	-0.3194	10	0.87932	D	0	.	5.1883	0.15195	0.1633:0.663:0.0:0.1737	.	164;190	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	M	190;168;164	ENSP00000295225:I190M;ENSP00000354261:I168M;ENSP00000417499:I164M	ENSP00000295225:I190M	I	+	3	3	KCNIP3	95411866	0.846000	0.29590	1.000000	0.80357	0.997000	0.91878	-0.018000	0.12568	0.710000	0.31997	0.561000	0.74099	ATC	KCNIP3	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.662	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	KCNIP3	HGNC	protein_coding	OTTHUMT00000252770.1	C	NM_013434		96048139	1	no_errors	ENST00000295225	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96048139	C	G	96048139	3	3	151	1	0	0	0	0	1	0	0	0	8061	816	29	1	703	1	KCNIP3	2	96048139	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7186285	96048139	147151234	132	24765										
CNNM4	26504	genome.wustl.edu	37	chr2	97475114	97475114	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcgcatggagaacagccctCagtttcccatagacgggtgc	11	13	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:97475114C>G	ENST00000377075.2	+	7	2286	c.2188C>G	c.(2188-2190)Cag>Gag	p.Q730E	CNNM4_ENST00000540067.1_Nonsense_Mutation_p.S246*|RP11-353K11.1_ENST00000608609.1_lincRNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	730					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.Q730*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GAACAGCCCTCAGTTTCCCAT	0.577																																																	1	Substitution - Nonsense(1)	breast(1)											95	80	85					2																	97475114		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2188C>G	2.37:g.97475114C>G	ENSP00000366275:p.Gln730Glu		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S246*	ENST00000377075.2	37	c.737	CCDS2024.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.438195|7.438195	0.98286|0.98286	.|.	.|.	ENSG00000158158|ENSG00000158158	ENST00000377075|ENST00000540067	T|.	0.34472|.	1.36|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74726|.	0.3754|.	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.37276|.	0.589|.	B|.	0.36335|.	0.222|.	T|.	0.70868|.	-0.4755|.	10|.	0.39692|0.23302	T|T	0.17|0.38	-17.6723|-17.6723	16.4914|16.4914	0.84202|0.84202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	730|.	Q6P4Q7|.	CNNM4_HUMAN|.	E|X	730|246	ENSP00000366275:Q730E|.	ENSP00000366275:Q730E|ENSP00000444806:S246X	Q|S	+|+	1|2	0|0	CNNM4|CNNM4	96838841|96838841	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.962000|0.962000	0.63368|0.63368	7.062000|7.062000	0.76706|0.76706	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	CAG|TCA	CNNM4	-	NULL		0.577	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	C	NM_020184		97475114	1	no_errors	ENST00000540067	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	97475114	C	G	97475114	3	3	151	1	0	0	0	0	1	0	0	0	3620	827	29	1	2214	1	CNNM4	2	97475114	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1426975	97475114	145724259	133	24766										
FAM178B	51252	genome.wustl.edu	37	chr2	97637691	97637691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtgttccagaacagcttctCtggcaaggccaggcccctct	10	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:97637691C>G	ENST00000417561.3	-	7	954	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	FAM178B_ENST00000490605.2_Missense_Mutation_p.E171Q|FAM178B_ENST00000327896.3_Missense_Mutation_p.E139Q			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	319										large_intestine(1)|ovary(1)	2						AACAGCTTCTCTGGCAAGGCC	0.647																																																	0													18	27	24					2																	97637691		691	1591	2282	SO:0001583	missense	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.955G>C	2.37:g.97637691C>G	ENSP00000413245:p.Glu319Gln		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	NULL	p.E319Q	ENST00000417561.3	37	c.955		2	.	.	.	.	.	.	.	.	.	.	C	9.781	1.175389	0.21704	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.60171	0.21;0.32;0.27	4.0	-1.33	0.09172	.	.	.	.	.	T	0.36908	0.0984	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.27872	-1.0061	7	0.35671	T	0.21	-0.7627	0.5708	0.00695	0.1752:0.2965:0.1722:0.3561	.	.	.	.	Q	319;139;171	ENSP00000413245:E319Q;ENSP00000333553:E139Q;ENSP00000429896:E171Q	ENSP00000333553:E139Q	E	-	1	0	FAM178B	97001418	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.234000	0.17930	-0.263000	0.09378	-0.157000	0.13467	GAG	FAM178B	-	NULL		0.647	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		C	NM_016490		97637691	-1	no_errors	ENST00000417561	ensembl	human	known	70_37	missense	SNP	0.000	G	G	97637691	C	G	97637691	3	3	151	1	0	0	0	0	1	0	0	0	5519	922	32	1	1619	1	FAM178B	2	97637691	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	162577	97637691	145561682	134	24767										
COX5B	1329	genome.wustl.edu	37	chr2	98262630	98262630	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggccccagtggcgcggccgcGatgcgctccatggcatctgg	16	15	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:98262630G>C	ENST00000258424.2	+	1	128	c.81G>C	c.(79-81)gcG>gcC	p.A27A	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	27					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GCGCGGCCGCGATGCGCTCCA	0.706																																																	0													7	7	7					2																	98262630		2120	4134	6254	SO:0001819	synonymous_variant	1329			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.81G>C	2.37:g.98262630G>C			Q53YB7|Q96J18|Q99610	Silent	SNP	pfam_Cyt_c_oxidase_su5b	p.A27	ENST00000258424.2	37	c.81	CCDS2032.1	2																																																																																			COX5B	-	NULL		0.706	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	G	NM_001862		98262630	1	no_errors	ENST00000258424	ensembl	human	known	70_37	silent	SNP	0.001	C	C	98262630	G	C	98262630	2	2	151	1	0	0	0	0	0	0	0	1	3778	1045	37	1		1	COX5B	2	98262630	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	624939	98262630	144936743	135	24768										
EIF5B	9669	genome.wustl.edu	37	chr2	99999378	99999378	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtcccttcattgttgcactCaataaggtatgtgcgccttc	8	11	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:99999378C>T	ENST00000289371.6	+	14	2467	c.2265C>T	c.(2263-2265)ctC>ctT	p.L755L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	755	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTTGCACTCAATAAGGTAT	0.323																																					Colon(162;2388 2567 2705 3444)												0													97	87	90					2																	99999378		1820	4073	5893	SO:0001819	synonymous_variant	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2265C>T	2.37:g.99999378C>T			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L755	ENST00000289371.6	37	c.2265	CCDS42721.1	2																																																																																			EIF5B	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.323	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	C	NM_015904		99999378	1	no_errors	ENST00000289371	ensembl	human	known	70_37	silent	SNP	0.954	T	T	99999378	C	T	99999378	2	4	151	1	0	0	0	0	0	0	0	1	5056	813	29	1		1	EIF5B	2	99999378	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1736748	99999378	143199995	136	24769										
GCC2	9648	genome.wustl.edu	37	chr2	109109215	109109215	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccaagatggaagcacagctCttccagcttaagaatgaacc	8	11	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:109109215C>T	ENST00000309863.6	+	19	5130	c.4416C>T	c.(4414-4416)ctC>ctT	p.L1472L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1472					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGCACAGCTCTTCCAGCTTA	0.403																																																	0													97	95	96					2																	109109215		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4416C>T	2.37:g.109109215C>T			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.L1472	ENST00000309863.6	37	c.4416	CCDS33268.1	2																																																																																			GCC2	-	NULL		0.403	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	C	NM_014635		109109215	1	no_errors	ENST00000309863	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109109215	C	T	109109215	2	4	151	1	0	0	0	0	0	0	0	1	6305	900	32	1		1	GCC2	2	109109215	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9109837	109109215	134090158	137	24770										
MAP3K2	10746	genome.wustl.edu	37	chr2	128088060	128088060	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctttgtccaagtcatcttGagtagttaatggaattacca	8	7	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:128088060G>A	ENST00000409947.1	-	6	568	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.Q96*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	96	OPR.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AAGTCATCTTGAGTAGTTAAT	0.378																																																	0													70	63	65					2																	128088060		1878	4118	5996	SO:0001587	stop_gained	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.286C>T	2.37:g.128088060G>A	ENSP00000387246:p.Gln96*		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q96*	ENST00000409947.1	37	c.286	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.635050	0.98403	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000343463:Q96X	Q	-	1	0	MAP3K2	127804530	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	9.012000	0.93624	2.890000	0.99128	0.585000	0.79938	CAA	MAP3K2	-	pfam_OPR_PB1,smart_OPR_PB1		0.378	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	G	NM_006609		128088060	-1	no_errors	ENST00000344908	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	128088060	G	A	128088060	4	1	151	1	0	0	0	0	0	1	0	0	9273	1299	45	1	1621	1	MAP3K2	2	128088060	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	18978845	128088060	115111313	138	24771										
WDR33	55339	genome.wustl.edu	37	chr2	128464072	128464072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtggtgctctccgtctaagGagctggaacgcccagatttg	13	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:128464072G>C	ENST00000322313.4	-	22	3994	c.3836C>G	c.(3835-3837)tCc>tGc	p.S1279C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1279					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCGTCTAAGGAGCTGGAACG	0.562																																																	0													76	82	80					2																	128464072		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3836C>G	2.37:g.128464072G>C	ENSP00000325377:p.Ser1279Cys		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1279C	ENST00000322313.4	37	c.3836	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218362	0.58560	.	.	ENSG00000136709	ENST00000322313	D	0.90844	-2.74	5.23	5.23	0.72850	.	0.175200	0.40640	N	0.001049	D	0.91043	0.7182	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	D	0.92212	0.5777	10	0.51188	T	0.08	-9.1765	19.1668	0.93561	0.0:0.0:1.0:0.0	.	1279	Q9C0J8	WDR33_HUMAN	C	1279	ENSP00000325377:S1279C	ENSP00000325377:S1279C	S	-	2	0	WDR33	128180542	1.000000	0.71417	0.996000	0.52242	0.453000	0.32348	6.722000	0.74735	2.597000	0.87782	0.650000	0.86243	TCC	WDR33	-	NULL		0.562	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	G	NM_018383		128464072	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128464072	G	C	128464072	3	2	151	1	0	0	0	0	1	0	0	0	17318	1174	41	1	178	1	WDR33	2	128464072	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	376012	128464072	114735301	139	24772										
SAP130	79595	genome.wustl.edu	37	chr2	128775373	128775373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtcgacaacatctgcacctGtggatagggccttaccacaa	9	12	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:128775373G>C	ENST00000259235.3	-	3	436	c.307C>G	c.(307-309)Cag>Gag	p.Q103E	SAP130_ENST00000357702.5_Missense_Mutation_p.Q103E|SAP130_ENST00000259234.6_Missense_Mutation_p.Q77E	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	103					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATCTGCACCTGTGGATAGGGC	0.577																																																	0													147	124	132					2																	128775373		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.307C>G	2.37:g.128775373G>C	ENSP00000259235:p.Gln103Glu		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.Q103E	ENST00000259235.3	37	c.307	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014589	0.93404	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	L	0.36672	1.1	0.80722	D	1	D;P;D	0.58268	0.982;0.954;0.982	D;D;D	0.70227	0.968;0.954;0.968	T	0.66496	-0.5909	9	0.45353	T	0.12	-13.7856	18.1974	0.89828	0.0:0.0:1.0:0.0	.	103;77;103	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	E	103;103;77;77;77	.	ENSP00000259234:Q77E	Q	-	1	0	SAP130	128491843	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.018000	0.93657	2.726000	0.93360	0.585000	0.79938	CAG	SAP130	-	NULL		0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128775373	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128775373	G	C	128775373	3	2	151	1	0	0	0	0	1	0	0	0	13861	1386	48	4	3020	4	SAP130	2	128775373	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	311301	128775373	114424000	140	24773										
SMPD4	55627	genome.wustl.edu	37	chr2	130910400	130910400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggttctgtgaggtggtagcGacagaagctgccgaggaagt	17	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:130910400G>C	ENST00000409031.1	-	20	3477	c.2329C>G	c.(2329-2331)Cgc>Ggc	p.R777G	SMPD4_ENST00000443958.2_Missense_Mutation_p.R441G|SMPD4_ENST00000452225.2_Missense_Mutation_p.R518G|SMPD4_ENST00000426662.2_Missense_Mutation_p.R413G|SMPD4_ENST00000453750.1_Missense_Mutation_p.R526G|SMPD4_ENST00000339679.7_Missense_Mutation_p.R635G|SMPD4_ENST00000431183.2_Missense_Mutation_p.R675G|SMPD4_ENST00000351288.6_Missense_Mutation_p.R748G	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	738					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGGTGGTAGCGACAGAAGCTG	0.672																																																	0													17	19	18					2																	130910400		2195	4282	6477	SO:0001583	missense	55627			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2329C>G	2.37:g.130910400G>C	ENSP00000386531:p.Arg777Gly		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	NULL	p.R777G	ENST00000409031.1	37	c.2329	CCDS42751.1	2	.	.	.	.	.	.	.	.	.	.	.	19.65	3.868175	0.72065	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.999;0.999;1.0;0.997;0.997;0.999;0.997;0.999	D;D;D;D;D;P;D;D;D;D	0.87578	0.96;0.95;0.972;0.958;0.998;0.834;0.953;0.971;0.986;0.978	T	0.81466	-0.0920	9	0.54805	T	0.06	.	13.7784	0.63069	0.0:0.0:1.0:0.0	.	413;518;675;635;526;709;738;777;784;309	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	G	748;777;675;526;441;635;518;413;287	.	ENSP00000339721:R635G	R	-	1	0	SMPD4	130626870	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.503000	0.53340	1.797000	0.52628	0.455000	0.32223	CGC	SMPD4	-	NULL		0.672	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	G	NM_017751		130910400	-1	no_errors	ENST00000409031	ensembl	human	known	70_37	missense	SNP	1.000	C	C	130910400	G	C	130910400	3	2	151	1	0	0	0	0	1	0	0	0	14837	1058	37	1	275	1	SMPD4	2	130910400	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2135027	130910400	112288973	141	24774										
ARHGEF4	50649	genome.wustl.edu	37	chr2	131797983	131797983	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaccgcgagcgcccacacctGagcgagctgggtgcctgctt	13	15	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:131797983G>T	ENST00000326016.5	+	8	1593	c.1074G>T	c.(1072-1074)ctG>ctT	p.L358L	ARHGEF4_ENST00000525839.1_Silent_p.L358L|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000355771.3_Silent_p.L287L|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000392953.3_Silent_p.L358L	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	358	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCCCACACCTGAGCGAGCTGG	0.682																																																	0													19	20	20					2																	131797983		2194	4297	6491	SO:0001819	synonymous_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1074G>T	2.37:g.131797983G>T			Q9HDC6|Q9UPP0	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L358	ENST00000326016.5	37	c.1074	CCDS2165.1	2																																																																																			ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.682	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	G			131797983	1	no_errors	ENST00000326016	ensembl	human	known	70_37	silent	SNP	0.993	T	T	131797983	G	T	131797983	2	4	151	1	0	0	0	0	0	0	0	1	908	1277	45	3		3	ARHGEF4	2	131797983	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	887583	131797983	111401390	142	24775										
UBXN4	23190	genome.wustl.edu	37	chr2	136499524	136499524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtggttccagggcgccattCcggccgccatcgcgacggcc	14	16	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:136499524C>T	ENST00000272638.9	+	1	336	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	9					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGGCGCCATTCCGGCCGCCAT	0.701																																																	0													25	34	31					2																	136499524		1986	4133	6119	SO:0001583	missense	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.25C>T	2.37:g.136499524C>T	ENSP00000272638:p.Pro9Ser		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.P9S	ENST00000272638.9	37	c.25	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314769	0.40996	.	.	ENSG00000144224	ENST00000272638;ENST00000430594;ENST00000415164	T;T	0.39787	1.06;1.47	4.4	1.59	0.23543	Thioredoxin-like fold (1);	0.143231	0.47852	N	0.000217	T	0.34832	0.0911	L	0.45051	1.395	0.45554	D	0.998507	P	0.35923	0.528	P	0.44394	0.448	T	0.06499	-1.0823	10	0.18276	T	0.48	.	5.3075	0.15811	0.0:0.6433:0.168:0.1886	.	9	Q92575	UBXN4_HUMAN	S	9	ENSP00000272638:P9S;ENSP00000401748:P9S	ENSP00000272638:P9S	P	+	1	0	UBXN4	136215994	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	2.192000	0.42649	0.134000	0.18681	-0.305000	0.09177	CCG	UBXN4	-	superfamily_Thioredoxin-like_fold		0.701	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	C	NM_014607		136499524	1	no_errors	ENST00000272638	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136499524	C	T	136499524	3	4	151	1	0	0	0	0	1	0	0	0	16947	855	30	1	27	1	UBXN4	2	136499524	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4701541	136499524	106699849	143	24776										
LCT	3938	genome.wustl.edu	37	chr2	136547286	136547286	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acaaaatgcagaccaaatctCtctgaaaagcctgtggccca	7	12	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:136547286C>T	ENST00000264162.2	-	16	5428	c.5418G>A	c.(5416-5418)gaG>gaA	p.E1806E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1806	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GACCAAATCTCTCTGAAAAGC	0.507																																																	0													135	133	134					2																	136547286		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5418G>A	2.37:g.136547286C>T			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E1806	ENST00000264162.2	37	c.5418	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136547286	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	silent	SNP	0.998	T	T	136547286	C	T	136547286	2	4	151	1	0	0	0	0	0	0	0	1	8713	912	32	1		1	LCT	2	136547286	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	47762	136547286	106652087	144	24777										
NEB	4703	genome.wustl.edu	37	chr2	152422319	152422319	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcctcggagccactccaggtCagctctgtagacattctgag	11	13	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:152422319C>G	ENST00000172853.10	-	87	13216	c.13069G>C	c.(13069-13071)Gac>Cac	p.D4357H	NEB_ENST00000427231.2_Missense_Mutation_p.D6058H|NEB_ENST00000409198.1_Missense_Mutation_p.D4357H|NEB_ENST00000397345.3_Missense_Mutation_p.D6058H|NEB_ENST00000604864.1_Missense_Mutation_p.D6058H|NEB_ENST00000603639.1_Missense_Mutation_p.D6058H			P20929	NEBU_HUMAN	nebulin	4357					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTCCAGGTCAGCTCTGTAG	0.473																																																	0													40	40	40					2																	152422319		1862	4108	5970	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13069G>C	2.37:g.152422319C>G	ENSP00000172853:p.Asp4357His		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D6058H	ENST00000172853.10	37	c.18172		2	.	.	.	.	.	.	.	.	.	.	C	32	5.156918	0.94686	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	6.16	6.16	0.99307	.	0.044315	0.85682	D	0.000000	T	0.79997	0.4543	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82082	-0.0633	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	4357;788	P20929;Q14215	NEBU_HUMAN;.	H	4357;6058;6058;406;788;4357	ENSP00000386259:D4357H;ENSP00000380505:D6058H;ENSP00000416578:D6058H;ENSP00000410961:D788H;ENSP00000172853:D4357H	ENSP00000172853:D4357H	D	-	1	0	NEB	152130565	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152422319	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152422319	C	G	152422319	3	3	151	1	0	0	0	0	1	0	0	0	10326	826	29	1	7786	1	NEB	2	152422319	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	15875033	152422319	90777054	145	24778										
SCN2A	6326	genome.wustl.edu	37	chr2	166226734	166226734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atattcattctggaaatgctGctaaagtgggttgcatatgg	11	5	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:166226734G>A	ENST00000375437.2	+	20	4064	c.3774G>A	c.(3772-3774)ctG>ctA	p.L1258L	SCN2A_ENST00000283256.6_Silent_p.L1258L|SCN2A_ENST00000375427.2_Silent_p.L1258L|SCN2A_ENST00000357398.3_Silent_p.L1258L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1258					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGAAATGCTGCTAAAGTGGG	0.393																																																	0													193	184	187					2																	166226734		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3774G>A	2.37:g.166226734G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1258	ENST00000375437.2	37	c.3774	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166226734	1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.997	A	A	166226734	G	A	166226734	2	1	151	1	0	0	0	0	0	0	0	1	13946	1306	46	4		4	SCN2A	2	166226734	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	13804415	166226734	76972639	146	24779										
XIRP2	129446	genome.wustl.edu	37	chr2	168067270	168067270	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctggccctaataagcctgaGagtggatttgcagaagacag	13	8	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:168067270G>A	ENST00000409728.1	+	5	776	c.687G>A	c.(685-687)gaG>gaA	p.E229E	XIRP2_ENST00000295237.9_Silent_p.E196E|XIRP2_ENST00000409043.1_Silent_p.E196E|XIRP2_ENST00000420519.1_Silent_p.E229E|XIRP2_ENST00000409195.1_Silent_p.E196E|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409756.2_Silent_p.E196E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	21					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAAGCCTGAGAGTGGATTTG	0.517																																																	0													142	147	146					2																	168067270		2036	4190	6226	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.687G>A	2.37:g.168067270G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.E196	ENST00000409728.1	37	c.588	CCDS56143.1	2																																																																																			XIRP2	-	NULL		0.517	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168067270	1	no_errors	ENST00000295237	ensembl	human	known	70_37	silent	SNP	0.000	A	A	168067270	G	A	168067270	2	1	151	1	0	0	0	0	0	0	0	1	17461	933	33	1		1	XIRP2	2	168067270	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1840536	168067270	75132103	147	24780										
LRP2	4036	genome.wustl.edu	37	chr2	170097642	170097642	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtagggcagtccttctcatCactcatatccccgcagtcat	7	14	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:170097642C>T	ENST00000263816.3	-	25	4186	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	LRP2_ENST00000443831.1_Missense_Mutation_p.D1164N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1301	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCTTCTCATCACTCATATCC	0.512																																																	0													208	156	173					2																	170097642		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3901G>A	2.37:g.170097642C>T	ENSP00000263816:p.Asp1301Asn		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D1301N	ENST00000263816.3	37	c.3901	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.398494	0.96030	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.99214	-5.57;-5.57	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97317	0.9941	10	0.59425	D	0.04	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	1164;1301	E9PC35;P98164	.;LRP2_HUMAN	N	1301;1164	ENSP00000263816:D1301N;ENSP00000409813:D1164N	ENSP00000263816:D1301N	D	-	1	0	LRP2	169805888	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.770000	0.85390	2.801000	0.96364	0.650000	0.86243	GAT	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170097642	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170097642	C	T	170097642	3	4	151	1	0	0	0	0	1	0	0	0	8979	826	29	1	10286	1	LRP2	2	170097642	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2030372	170097642	73101731	148	24781										
ZAK	51776	genome.wustl.edu	37	chr2	174074485	174074485	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcattcaagcaaatcatttCaatcctggagtccatgtcaa	5	10	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:174074485C>G	ENST00000375213.3	+	10	851	c.773C>G	c.(772-774)tCa>tGa	p.S258*	MLTK_ENST00000409176.2_Nonsense_Mutation_p.S258*|MLTK_ENST00000338983.3_Nonsense_Mutation_p.S258*|MLK7-AS1_ENST00000419609.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Nonsense_Mutation_p.S258*|MLTK_ENST00000431503.2_Nonsense_Mutation_p.S157*|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAAATCATTTCAATCCTGGAG	0.443																																																	0													110	100	103					2																	174074485		2203	4300	6503	SO:0001587	stop_gained	51776																														ENST00000375213.3:c.773C>G	2.37:g.174074485C>G	ENSP00000364361:p.Ser258*		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S258*	ENST00000375213.3	37	c.773	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.392945	0.97529	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	.	.	.	5.97	5.09	0.68999	.	0.309868	0.36268	N	0.002697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.0374	0.71761	0.0:0.9321:0.0:0.0679	.	.	.	.	X	258;258;258;157;258	.	ENSP00000340257:S258X	S	+	2	0	AC013461.1	173782731	0.974000	0.33945	0.987000	0.45799	0.997000	0.91878	2.408000	0.44574	1.535000	0.49220	0.591000	0.81541	TCA	MLTK	-	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		0.443	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	C			174074485	1	no_errors	ENST00000375213	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	174074485	C	G	174074485	4	3	151	1	0	0	0	0	0	1	0	0	17543	838	29	1	807	1	ZAK	2	174074485	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3976843	174074485	69124888	149	24782										
CHRNA1	1134	genome.wustl.edu	37	chr2	175613442	175613442	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccctggctttccagaaatgtCagagatatcaatgtcttctg	8	10	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:175613442C>T	ENST00000261007.5	-	9	1249	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.D370N|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D288N|CHRNA1_ENST00000409219.1_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	395					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CCAGAAATGTCAGAGATATCA	0.448											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													159	153	155					2																	175613442		2203	4300	6503	SO:0001583	missense	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1183G>A	2.37:g.175613442C>T	ENSP00000261007:p.Asp395Asn	1924	B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.D395N	ENST00000261007.5	37	c.1183	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426661	0.62733	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542	D;D;D	0.81499	-1.5;-1.5;-1.5	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.329118	0.27956	N	0.017178	D	0.82444	0.5038	L	0.29908	0.895	0.80722	D	1	B;P	0.50272	0.428;0.933	B;P	0.56216	0.289;0.794	T	0.81387	-0.0956	10	0.40728	T	0.16	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	370;395	Q53SH4;P02708	.;ACHA_HUMAN	N	370;395;288	ENSP00000261008:D370N;ENSP00000261007:D395N;ENSP00000387026:D288N	ENSP00000261007:D395N	D	-	1	0	CHRNA1	175321688	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	GAC	CHRNA1	-	superfamily_Neurotrans-gated_channel_TM		0.448	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	C			175613442	-1	no_errors	ENST00000261007	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175613442	C	T	175613442	3	4	151	1	0	0	0	0	1	0	0	0	3386	826	29	1	273	1	CHRNA1	2	175613442	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1538957	175613442	67585931	150	24783										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098808	178098808	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attgggagaaattcacctgtCtcttcatctagttgtaactg	8	8	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:178098808C>A	ENST00000397062.3	-	2	791	c.237G>T	c.(235-237)gaG>gaT	p.E79D	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79_T80insE(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATTCACCTGTCTCTTCATCTA	0.438			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Insertion - In frame(1)	oesophagus(1)											146	144	145					2																	178098808		1902	4109	6011	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.237G>T	2.37:g.178098808C>A	ENSP00000380252:p.Glu79Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79D	ENST00000397062.3	37	c.237	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448379	0.43429	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.78	0.211	0.15236	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.87180	2.865	0.48901	D	0.999724	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.62215	-0.6901	10	0.72032	D	0.01	.	12.0286	0.53386	0.0:0.6053:0.0:0.3947	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	63;79;63;63;63;63;63	ENSP00000380253:E63D;ENSP00000380252:E79D;ENSP00000411575:E63D;ENSP00000391590:E63D;ENSP00000400073:E63D;ENSP00000412191:E63D;ENSP00000410015:E63D	ENSP00000380252:E79D	E	-	3	2	NFE2L2	177807054	0.908000	0.30866	0.998000	0.56505	0.997000	0.91878	-0.008000	0.12788	0.086000	0.17137	0.563000	0.77884	GAG	NFE2L2	-	NULL		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098808	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	0.987	A	A	178098808	C	A	178098808	3	1	151	1	0	0	0	0	1	0	0	0	10392	912	32	3	1596	3	NFE2L2	2	178098808	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2485366	178098808	65100565	151	24784										
TTN	7273	genome.wustl.edu	37	chr2	179409108	179409108	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccactgatcagtgtccttctCttgcatttccagaacatatc	5	13	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179409108C>G	ENST00000591111.1	-	295	91149	c.90925G>C	c.(90925-90927)Gag>Cag	p.E30309Q	RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23077Q|TTN_ENST00000359218.5_Missense_Mutation_p.E23010Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29382Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22885Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E31950Q			Q8WZ42	TITIN_HUMAN	titin	30309	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCCTTCTCTTGCATTTCC	0.428																																																	0													152	136	141					2																	179409108		1980	4159	6139	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90925G>C	2.37:g.179409108C>G	ENSP00000465570:p.Glu30309Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E29382Q	ENST00000591111.1	37	c.88144		2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167200	0.78339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67420	0.2891	L	0.38692	1.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66976	-0.5787	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	22885;23010;23077;30309	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29382;22885;23077;23010;22882	ENSP00000343764:E29382Q;ENSP00000434586:E22885Q;ENSP00000340554:E23077Q;ENSP00000352154:E23010Q	ENSP00000340554:E23077Q	E	-	1	0	TTN	179117354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.097000	0.71452	2.937000	0.99478	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179409108	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179409108	C	G	179409108	3	3	151	1	0	0	0	0	1	0	0	0	16766	922	32	1	12203	1	TTN	2	179409108	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1310300	179409108	63790265	152	24785										
TTN	7273	genome.wustl.edu	37	chr2	179418668	179418668	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcagcagctttgtagaattCagatggttcagaaaatggac	10	6	3	3	rs370918981		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179418668C>A	ENST00000591111.1	-	283	84471	c.84247G>T	c.(84247-84249)Gaa>Taa	p.E28083*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E20851*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E20784*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E27156*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E20659*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E29724*			Q8WZ42	TITIN_HUMAN	titin	28083	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E27156K(1)|p.E20851K(1)|p.E20659K(1)|p.E20784K(1)|p.E27154K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTAGAATTCAGATGGTTCA	0.413																																																	5	Substitution - Missense(5)	lung(5)											67	67	67					2																	179418668		1921	4130	6051	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84247G>T	2.37:g.179418668C>A	ENSP00000465570:p.Glu28083*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E27156*	ENST00000591111.1	37	c.81466		2	.	.	.	.	.	.	.	.	.	.	C	66	95.242047	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	.	.	.	X	27156;20659;20851;20784;20656	.	ENSP00000340554:E20851X	E	-	1	0	TTN	179126914	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.753000	0.62183	2.793000	0.96121	0.655000	0.94253	GAA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179418668	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	179418668	C	A	179418668	4	1	151	1	0	0	0	0	0	1	0	0	16766	835	29	3	18929	3	TTN	2	179418668	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9560	179418668	63780705	153	24786										
TTN	7273	genome.wustl.edu	37	chr2	179444759	179444759	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagtaggattttccctcctCcaaattagctactctgaagc	7	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179444759C>G	ENST00000591111.1	-	268	62556	c.62332G>C	c.(62332-62334)Gag>Cag	p.E20778Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13546Q|TTN_ENST00000359218.5_Missense_Mutation_p.E13479Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19851Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13354Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E22419Q			Q8WZ42	TITIN_HUMAN	titin	20778	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCCTCCTCCAAATTAGCT	0.443																																																	0													156	153	154					2																	179444759		1917	4128	6045	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62332G>C	2.37:g.179444759C>G	ENSP00000465570:p.Glu20778Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E19851Q	ENST00000591111.1	37	c.59551		2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362436	0.24684	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.53	4.64	0.57946	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50069	0.1594	N	0.11892	0.195	0.48830	D	0.999716	D;P;D;P	0.55172	0.97;0.949;0.97;0.949	P;P;P;P	0.56514	0.8;0.8;0.8;0.8	T	0.59263	-0.7487	9	0.87932	D	0	.	14.7211	0.69308	0.0:0.9292:0.0:0.0708	.	13354;13479;13546;20778	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	19851;13354;13546;13479;13352	ENSP00000343764:E19851Q;ENSP00000434586:E13354Q;ENSP00000340554:E13546Q;ENSP00000352154:E13479Q	ENSP00000340554:E13546Q	E	-	1	0	TTN	179153005	1.000000	0.71417	0.410000	0.26471	0.491000	0.33493	4.895000	0.63214	1.306000	0.44926	0.467000	0.42956	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179444759	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179444759	C	G	179444759	3	3	151	1	0	0	0	0	1	0	0	0	16766	864	30	1	40904	1	TTN	2	179444759	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	26091	179444759	63754614	154	24787										
TTN	7273	genome.wustl.edu	37	chr2	179542477	179542477	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcaggtggaatttcctcttCttcaggtagaacttcctctt	7	11	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179542477C>T	ENST00000591111.1	-	144	33435	c.33211G>A	c.(33211-33213)Gaa>Aaa	p.E11071K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10144K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11388K|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10206	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCCTCTTCTTCAGGTAGA	0.433																																																	0													120	120	120					2																	179542477		1854	4080	5934	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33211G>A	2.37:g.179542477C>T	ENSP00000465570:p.Glu11071Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E10144K	ENST00000591111.1	37	c.30430		2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590235	0.46214	.	.	ENSG00000155657	ENST00000342992	T	0.73258	-0.73	5.36	5.36	0.76844	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.62277	-0.6888	8	0.87932	D	0	.	11.8502	0.52407	0.0:0.9195:0.0:0.0805	.	11071	Q8WZ42	TITIN_HUMAN	K	10144	ENSP00000343764:E10144K	ENSP00000343764:E10144K	E	-	1	0	TTN	179250722	0.312000	0.24545	1.000000	0.80357	0.651000	0.38670	1.655000	0.37345	2.639000	0.89480	0.655000	0.94253	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179542477	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179542477	C	T	179542477	3	4	151	1	0	0	0	0	1	0	0	0	16766	922	32	1	70235	1	TTN	2	179542477	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	97718	179542477	63656896	155	24788										
TTN	7273	genome.wustl.edu	37	chr2	179542501	179542501	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggtagaacttcctcttcttCaggtagaacttcctcttcct	6	12	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179542501C>G	ENST00000591111.1	-	144	33411	c.33187G>C	c.(33187-33189)Gaa>Caa	p.E11063Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10136Q|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11380Q|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10198	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTTCTTCAGGTAGAACT	0.428																																																	0													128	128	128					2																	179542501		1859	4084	5943	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33187G>C	2.37:g.179542501C>G	ENSP00000465570:p.Glu11063Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E10136Q	ENST00000591111.1	37	c.30406		2	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528313	0.27299	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	6.06	6.06	0.98353	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55097	0.1899	.	.	.	0.80722	D	1	B	0.27498	0.18	B	0.23150	0.044	T	0.56811	-0.7917	8	0.87932	D	0	.	8.0711	0.30689	0.0:0.7295:0.1362:0.1343	.	11063	Q8WZ42	TITIN_HUMAN	Q	10136	ENSP00000343764:E10136Q	ENSP00000343764:E10136Q	E	-	1	0	TTN	179250746	0.002000	0.14202	0.996000	0.52242	0.282000	0.26991	1.356000	0.34079	2.882000	0.98803	0.655000	0.94253	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179542501	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179542501	C	G	179542501	3	3	151	1	0	0	0	0	1	0	0	0	16766	835	29	1	70259	1	TTN	2	179542501	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	24	179542501	63656872	156	24789										
TTN	7273	genome.wustl.edu	37	chr2	179592954	179592954	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttccagagacacagatctctCatggcacacaagtctgtatt	7	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179592954C>T	ENST00000591111.1	-	65	18870	c.18646G>A	c.(18646-18648)Gag>Aag	p.E6216K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E5289K|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E6533K			Q8WZ42	TITIN_HUMAN	titin	12996	Ig-like 43.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGATCTCTCATGGCACACA	0.403																																																	0													73	70	71					2																	179592954		1886	4121	6007	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18646G>A	2.37:g.179592954C>T	ENSP00000465570:p.Glu6216Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E5289K	ENST00000591111.1	37	c.15865		2	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377624	0.24944	.	.	ENSG00000155657	ENST00000342992	T	0.42131	0.98	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62636	0.2444	M	0.70787	2.145	0.80722	D	1	D	0.57571	0.98	P	0.57846	0.828	T	0.63795	-0.6556	9	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	6216	Q8WZ42	TITIN_HUMAN	K	5289	ENSP00000343764:E5289K	ENSP00000343764:E5289K	E	-	1	0	TTN	179301199	0.998000	0.40836	0.859000	0.33776	0.340000	0.28889	3.937000	0.56575	2.894000	0.99253	0.591000	0.81541	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179592954	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179592954	C	T	179592954	3	4	151	1	0	0	0	0	1	0	0	0	16766	835	29	1	85116	1	TTN	2	179592954	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	50453	179592954	63606419	157	24790										
ANKAR	150709	genome.wustl.edu	37	chr2	190611212	190611212	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcttcaaagcaacaaaaaaGaccaaggattcccataatat	4	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:190611212G>C	ENST00000520309.1	+	23	4252	c.4164G>C	c.(4162-4164)aaG>aaC	p.K1388N	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.K1317N|ANKAR_ENST00000313581.4_Missense_Mutation_p.K1388N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1388						integral component of membrane (GO:0016021)		p.K1317N(1)|p.K1388N(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAACAAAAAAGACCAAGGATT	0.323																																																	2	Substitution - Missense(2)	breast(2)											81	92	88					2																	190611212		2203	4299	6502	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4164G>C	2.37:g.190611212G>C	ENSP00000427882:p.Lys1388Asn		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.K1388N	ENST00000520309.1	37	c.4164	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	G	7.613	0.675243	0.14841	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	T;T;T	0.26067	1.76;1.76;1.76	4.33	2.44	0.29823	.	0.773395	0.11704	N	0.537695	T	0.18551	0.0445	L	0.27053	0.805	0.31386	N	0.678426	.	.	.	.	.	.	T	0.26849	-1.0091	8	0.42905	T	0.14	-7.7231	3.6725	0.08279	0.208:0.0:0.5749:0.2172	.	.	.	.	N	1388;1388;1317	ENSP00000427882:K1388N;ENSP00000313513:K1388N;ENSP00000393043:K1317N	ENSP00000313513:K1388N	K	+	3	2	ANKAR	190319457	0.001000	0.12720	0.382000	0.26119	0.978000	0.69477	-0.088000	0.11198	0.515000	0.28320	0.591000	0.81541	AAG	ANKAR	-	NULL		0.323	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	G	NM_144708		190611212	1	no_errors	ENST00000313581	ensembl	human	known	70_37	missense	SNP	0.340	C	C	190611212	G	C	190611212	3	2	151	1	0	0	0	0	1	0	0	0	623	933	33	1	4250	1	ANKAR	2	190611212	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11018258	190611212	52588161	158	24791										
SDPR	8436	genome.wustl.edu	37	chr2	192711513	192711513	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacctgtgagttgtcccggaTggcctcctctgtgttcccta	10	14	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:192711513T>A	ENST00000304141.4	-	1	468	c.139A>T	c.(139-141)Atc>Ttc	p.I47F	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTGTCCCGGATGGCCTCCTCT	0.607																																																	0													110	95	100					2																	192711513		2203	4300	6503	SO:0001583	missense	8436			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.139A>T	2.37:g.192711513T>A	ENSP00000305675:p.Ile47Phe			Missense_Mutation	SNP	NULL	p.I47F	ENST00000304141.4	37	c.139	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	T	13.48	2.251043	0.39797	.	.	ENSG00000168497	ENST00000304141	T	0.65549	-0.16	4.85	0.846	0.18955	.	0.531595	0.17472	N	0.173058	T	0.51890	0.1701	L	0.47716	1.5	0.35602	D	0.807966	P	0.37207	0.587	B	0.36289	0.221	T	0.57481	-0.7804	10	0.52906	T	0.07	-16.0245	10.3954	0.44198	0.0:0.0:0.4952:0.5048	.	47	O95810	SDPR_HUMAN	F	47	ENSP00000305675:I47F	ENSP00000305675:I47F	I	-	1	0	SDPR	192419758	0.002000	0.14202	0.993000	0.49108	0.874000	0.50279	-0.037000	0.12164	0.051000	0.15978	0.454000	0.30748	ATC	SDPR	-	NULL		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	T	NM_004657		192711513	-1	no_errors	ENST00000304141	ensembl	human	known	70_37	missense	SNP	0.999	A	A	192711513	T	A	192711513	3	1	151	1	0	0	0	0	1	0	0	0	14000	1464	51	5	1146	5	SDPR	2	192711513	Missense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	2100301	192711513	50487860	159	24792										
HECW2	57520	genome.wustl.edu	37	chr2	197183690	197183690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actctcattgcaggagctgtCagcgcattccaggtcactct	9	13	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:197183690C>G	ENST00000260983.3	-	9	2106	c.1924G>C	c.(1924-1926)Gac>Cac	p.D642H	HECW2_ENST00000409111.1_Missense_Mutation_p.D286H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	642					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAGGAGCTGTCAGCGCATTCC	0.582																																																	0													99	77	84					2																	197183690		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1924G>C	2.37:g.197183690C>G	ENSP00000260983:p.Asp642His		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D642H	ENST00000260983.3	37	c.1924	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828395	0.50845	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.38077	1.16;1.23	5.19	4.29	0.51040	.	0.506759	0.21774	N	0.069314	T	0.23926	0.0579	N	0.19112	0.55	0.34451	D	0.700714	B	0.09022	0.002	B	0.10450	0.005	T	0.22836	-1.0205	10	0.72032	D	0.01	.	9.2826	0.37737	0.0:0.7777:0.1467:0.0756	.	642	Q9P2P5	HECW2_HUMAN	H	286;642	ENSP00000386775:D286H;ENSP00000260983:D642H	ENSP00000260983:D642H	D	-	1	0	HECW2	196891935	0.977000	0.34250	0.866000	0.34008	0.819000	0.46315	2.336000	0.43938	1.375000	0.46248	0.561000	0.74099	GAC	HECW2	-	NULL		0.582	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	C	NM_020760		197183690	-1	no_errors	ENST00000260983	ensembl	human	known	70_37	missense	SNP	0.935	G	G	197183690	C	G	197183690	3	3	151	1	0	0	0	0	1	0	0	0	7063	826	29	1	2878	1	HECW2	2	197183690	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4472177	197183690	46015683	160	24793										
ALS2CR11	151254	genome.wustl.edu	37	chr2	202360633	202360633	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcacctgaaattttggtttGaattctatatattctggtct	6	7	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:202360633G>C	ENST00000286195.3	-	14	1610	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.F522L|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	522										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATTTTGGTTTGAATTCTATAT	0.269																																																	0													59	64	62					2																	202360633		2191	4289	6480	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1566C>G	2.37:g.202360633G>C	ENSP00000286195:p.Phe522Leu		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F522L	ENST00000286195.3	37	c.1566	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689864	0.29962	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	T;T	0.45668	0.91;0.89	5.15	-1.35	0.09114	.	1.454600	0.04713	N	0.417993	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.14090	-1.0485	10	0.02654	T	1	.	1.1148	0.01712	0.1647:0.2724:0.2841:0.2788	.	522;522	E9PGG4;Q53TS8	.;AL2SA_HUMAN	L	522	ENSP00000286195:F522L;ENSP00000409937:F522L	ENSP00000286195:F522L	F	-	3	2	ALS2CR11	202068878	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-0.011000	0.12721	-0.468000	0.06922	-0.310000	0.09108	TTC	ALS2CR11	-	NULL		0.269	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	G	NM_152525		202360633	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	missense	SNP	0.000	C	C	202360633	G	C	202360633	3	2	151	1	0	0	0	0	1	0	0	0	552	1281	45	1	3908	1	ALS2CR11	2	202360633	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5176943	202360633	40838740	161	24794										
FZD7	8324	genome.wustl.edu	37	chr2	202901050	202901050	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcagtcgtggcgccgcttCtaccacagacttagccacag	10	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:202901050C>G	ENST00000286201.1	+	1	1741	c.1680C>G	c.(1678-1680)ttC>ttG	p.F560L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	560					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCGCCGCTTCTACCACAGAC	0.607																																																	0													38	41	40					2																	202901050		2201	4296	6497	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1680C>G	2.37:g.202901050C>G	ENSP00000286201:p.Phe560Leu		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F560L	ENST00000286201.1	37	c.1680	CCDS2351.1	2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954669	0.53293	.	.	ENSG00000155760	ENST00000286201	T	0.81247	-1.47	5.83	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.85864	0.5796	M	0.66939	2.045	0.58432	D	0.999994	D	0.65815	0.995	D	0.70227	0.968	D	0.83512	0.0081	10	0.27082	T	0.32	.	10.8233	0.46617	0.0:0.7778:0.0:0.2222	.	560	O75084	FZD7_HUMAN	L	560	ENSP00000286201:F560L	ENSP00000286201:F560L	F	+	3	2	FZD7	202609295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.316000	0.33620	1.473000	0.48159	0.655000	0.94253	TTC	FZD7	-	pfam_Frizzled		0.607	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	C	NM_003507		202901050	1	no_errors	ENST00000286201	ensembl	human	known	70_37	missense	SNP	1.000	G	G	202901050	C	G	202901050	3	3	151	1	0	0	0	0	1	0	0	0	6153	912	32	1	1682	1	FZD7	2	202901050	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	540417	202901050	40298323	162	24795										
SUMO1	7341	genome.wustl.edu	37	chr2	203084816	203084816	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tatcccccaagtcctcagttGaaggttttgcctcctgaaag	8	12	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:203084816G>C	ENST00000392246.2	-	2	182	c.26C>G	c.(25-27)tCa>tGa	p.S9*	SUMO1_ENST00000409205.1_5'UTR|SUMO1_ENST00000409181.1_Nonsense_Mutation_p.S9*|SUMO1_ENST00000409498.2_5'UTR|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392245.1_Nonsense_Mutation_p.S9*|SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409712.1_Nonsense_Mutation_p.S9*|SUMO1_ENST00000409368.1_Nonsense_Mutation_p.S9*	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	9					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										GTCCTCAGTTGAAGGTTTTGC	0.338																																																	0													111	122	118					2																	203084816		2203	4299	6502	SO:0001587	stop_gained	7341			U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"ubiquitin-like 1 (sentrin)", "SMT3 suppressor of mif two 3 homolog 1 (yeast)", "SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.26C>G	2.37:g.203084816G>C	ENSP00000376077:p.Ser9*		A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Nonsense_Mutation	SNP	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S9*	ENST00000392246.2	37	c.26	CCDS2352.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.425488	0.97555	.	.	ENSG00000116030	ENST00000392246;ENST00000392245;ENST00000409368;ENST00000409712;ENST00000409181	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.2843	19.8407	0.96681	0.0:0.0:1.0:0.0	.	.	.	.	X	9	.	ENSP00000376076:S9X	S	-	2	0	SUMO1	202793061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.438000	0.90305	2.763000	0.94921	0.563000	0.77884	TCA	SUMO1	-	NULL		0.338	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO1	HGNC	protein_coding	OTTHUMT00000256312.2	G	NM_003352		203084816	-1	no_errors	ENST00000392245	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	203084816	G	C	203084816	4	2	151	1	0	0	0	0	0	1	0	0	15417	1294	45	1	295	1	SUMO1	2	203084816	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	183766	203084816	40114557	163	24796										
NBEAL1	65065	genome.wustl.edu	37	chr2	204000956	204000956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggctttagtgatgacttctCtttacttgaaagccaagagg	11	7	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:204000956C>G	ENST00000449802.1	+	27	4616	c.4283C>G	c.(4282-4284)tCt>tGt	p.S1428C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1428										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGACTTCTCTTTACTTGAA	0.363																																																	0													63	59	60					2																	204000956		1868	4103	5971	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4283C>G	2.37:g.204000956C>G	ENSP00000399903:p.Ser1428Cys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1428C	ENST00000449802.1	37	c.4283	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108805	0.56398	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58506	0.33	5.31	3.22	0.36961	.	0.245083	0.33327	U	0.005033	T	0.63850	0.2546	L	0.50333	1.59	0.53688	D	0.99997	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.65590	-0.6131	10	0.72032	D	0.01	.	9.5906	0.39543	0.0:0.8023:0.0:0.1977	.	1428;1417	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	C	1428	ENSP00000399903:S1428C	ENSP00000344985:S1428C	S	+	2	0	NBEAL1	203709201	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.162000	0.50755	1.130000	0.42092	0.655000	0.94253	TCT	NBEAL1	-	NULL		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204000956	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204000956	C	G	204000956	3	3	151	1	0	0	0	0	1	0	0	0	10211	913	32	1	4385	1	NBEAL1	2	204000956	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	916140	204000956	39198417	164	24797										
PIKFYVE	200576	genome.wustl.edu	37	chr2	209138367	209138367	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggaagttggaccagccctCagctcccttcgaggacacag	12	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:209138367C>G	ENST00000264380.4	+	3	390	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Q78E|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Q78E|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Q78E	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	78					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACCAGCCCTCAGCTCCCTTC	0.502																																																	0													100	96	97					2																	209138367		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.232C>G	2.37:g.209138367C>G	ENSP00000264380:p.Gln78Glu		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.Q78E	ENST00000264380.4	37	c.232	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622194	0.66787	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.64438	1.61;-0.1;-0.07;1.76	5.65	5.65	0.86999	.	0.146518	0.47455	D	0.000233	T	0.61110	0.2321	N	0.14661	0.345	0.24464	N	0.994424	B;P;P;P;P	0.49447	0.233;0.924;0.811;0.713;0.811	B;P;P;P;P	0.62298	0.066;0.9;0.764;0.585;0.764	T	0.52726	-0.8537	10	0.07813	T	0.8	-14.1471	18.2766	0.90085	0.0:1.0:0.0:0.0	.	78;78;78;78;78	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	E	78	ENSP00000264380:Q78E;ENSP00000384356:Q78E;ENSP00000414477:Q78E;ENSP00000405736:Q78E	ENSP00000264380:Q78E	Q	+	1	0	PIKFYVE	208846612	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.072000	0.64389	2.824000	0.97209	0.655000	0.94253	CAG	PIKFYVE	-	NULL		0.502	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209138367	1	no_errors	ENST00000264380	ensembl	human	known	70_37	missense	SNP	1.000	G	G	209138367	C	G	209138367	3	3	151	1	0	0	0	0	1	0	0	0	11948	827	29	1	238	1	PIKFYVE	2	209138367	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5137411	209138367	34061006	165	24798										
C2orf62	375307	genome.wustl.edu	37	chr2	219227621	219227621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggcaaactctgctatttgaCctatgtaaggggtccccttg	11	10	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:219227621C>A	ENST00000289388.3	+	6	655	c.626C>A	c.(625-627)aCc>aAc	p.T209N	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		209					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTATTTGACCTATGTAAGG	0.582																																																	0													41	38	39					2																	219227621		2203	4300	6503	SO:0001583	missense	375307																														ENST00000289388.3:c.626C>A	2.37:g.219227621C>A	ENSP00000289388:p.Thr209Asn			Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.T209N	ENST00000289388.3	37	c.626	CCDS2414.1	2	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831180	0.50845	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.7	3.82	0.43975	.	0.116701	0.56097	D	0.000021	T	0.73598	0.3607	M	0.66939	2.045	0.40947	D	0.984513	D	0.67145	0.996	P	0.60541	0.876	T	0.78084	-0.2342	9	0.72032	D	0.01	-0.4272	13.9156	0.63895	0.0:0.8461:0.1539:0.0	.	209	Q7Z7H3	CB062_HUMAN	N	209	.	ENSP00000289388:T209N	T	+	2	0	C2orf62	218935865	0.999000	0.42202	0.154000	0.22540	0.413000	0.31143	3.854000	0.55949	1.179000	0.42884	0.655000	0.94253	ACC	C2orf62	-	NULL		0.582	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	C			219227621	1	no_errors	ENST00000289388	ensembl	human	known	70_37	missense	SNP	0.996	A	A	219227621	C	A	219227621	3	1	151	1	0	0	0	0	1	0	0	0	2186	507	18	4	648	4	C2orf62	2	219227621	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10089254	219227621	23971752	166	24799										
USP37	57695	genome.wustl.edu	37	chr2	219330900	219330900	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcagtaaaactggcaggatCtgaggaagcagaacataaca	10	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:219330900C>A	ENST00000258399.3	-	21	2712		c.e21-1		USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTGGCAGGATCTGAGGAAGCA	0.358																																																	0													101	98	99					2																	219330900		2203	4300	6503	SO:0001630	splice_region_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2300-1G>T	2.37:g.219330900C>A			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	-	e18-1	ENST00000258399.3	37	c.2300-1	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864800	0.71949	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4742	0.87655	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219039144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.775000	0.68915	2.793000	0.96121	0.591000	0.81541	.	USP37	-	-		0.358	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935	Intron	219330900	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	219330900	C	A	219330900	5	1	151	1	0	0	0	0	0	0	1	0	17099	927	32	3	664	3	USP37	2	219330900	Splice_Site	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	103279	219330900	23868473	167	24800										
GLB1L	79411	genome.wustl.edu	37	chr2	220102371	220102371	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggggaaaccaccacttcaCaaggttatcaattttcagag	9	9	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:220102371C>A	ENST00000295759.7	-	16	1865	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	GLB1L_ENST00000392089.2_Missense_Mutation_p.V518L|GLB1L_ENST00000409640.1_Missense_Mutation_p.V428L|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.V428L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	518					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCACTTCACAAGGTTATCA	0.453																																																	0													85	89	87					2																	220102371		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1552G>T	2.37:g.220102371C>A	ENSP00000295759:p.Val518Leu		Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.V518L	ENST00000295759.7	37	c.1552	CCDS2437.1	2	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352439	0.41700	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.09	2.03	0.26663	Galactose-binding domain-like (1);	0.210840	0.47093	D	0.000257	T	0.81884	0.4917	N	0.14661	0.345	0.45704	D	0.998616	B;B	0.24533	0.105;0.05	B;B	0.23574	0.047;0.018	T	0.71663	-0.4525	10	0.21014	T	0.42	-4.9821	9.2983	0.37829	0.0:0.6943:0.0:0.3057	.	428;518	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	L	518;428;518;428	ENSP00000295759:V518L;ENSP00000386354:V428L;ENSP00000375939:V518L;ENSP00000348628:V428L	ENSP00000295759:V518L	V	-	1	0	GLB1L	219810615	0.854000	0.29725	0.979000	0.43373	0.984000	0.73092	0.268000	0.18571	0.674000	0.31244	0.655000	0.94253	GTG	GLB1L	-	superfamily_Galactose-bd-like		0.453	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	C	NM_024506		220102371	-1	no_errors	ENST00000295759	ensembl	human	known	70_37	missense	SNP	0.961	A	A	220102371	C	A	220102371	3	1	151	1	0	0	0	0	1	0	0	0	6447	478	17	4	420	4	GLB1L	2	220102371	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	771471	220102371	23097002	168	24801										
SPEG	10290	genome.wustl.edu	37	chr2	220354197	220354197	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acacccccgtcagtcactgtCagcccctcatctccccccac	4	23	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:220354197C>G	ENST00000312358.7	+	36	8589	c.8457C>G	c.(8455-8457)gtC>gtG	p.V2819V	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2819	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGTCACTGTCAGCCCCTCAT	0.672																																																	0													32	35	34					2																	220354197		1904	4101	6005	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8457C>G	2.37:g.220354197C>G			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V2819	ENST00000312358.7	37	c.8457	CCDS42824.1	2																																																																																			SPEG	-	NULL		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220354197	1	no_errors	ENST00000312358	ensembl	human	novel	70_37	silent	SNP	0.984	G	G	220354197	C	G	220354197	2	3	151	1	0	0	0	0	0	0	0	1	15066	813	29	1		1	SPEG	2	220354197	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	251826	220354197	22845176	169	24802										
AP1S3	130340	genome.wustl.edu	37	chr2	224629953	224629953	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtaacatatcagagtcttCaatggctttgacagcaattt	7	8	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:224629953C>T	ENST00000446015.2	-	4	439	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Missense_Mutation_p.E136K|AP1S3_ENST00000443700.1_Missense_Mutation_p.E136K			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	136					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAGAGTCTTCAATGGCTTTG	0.348																																																	0													138	124	129					2																	224629953		1891	4131	6022	SO:0001583	missense	130340			AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.406G>A	2.37:g.224629953C>T	ENSP00000388738:p.Glu136Lys		B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.E136K	ENST00000446015.2	37	c.406		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770701	0.90108	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000446015	.	.	.	5.61	5.61	0.85477	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.67625	2.065	0.80722	D	1	D;B	0.53745	0.962;0.027	P;B	0.53490	0.727;0.036	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.6394	0.95751	0.0:1.0:0.0:0.0	.	136;136	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	K	136	.	ENSP00000379891:E136K	E	-	1	0	AP1S3	224338197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.654000	0.67974	2.637000	0.89404	0.655000	0.94253	GAA	AP1S3	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.348	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	AP1S3	HGNC	protein_coding	OTTHUMT00000383293.1	C			224629953	-1	no_errors	ENST00000443700	ensembl	human	known	70_37	missense	SNP	1.000	T	T	224629953	C	T	224629953	3	4	151	1	0	0	0	0	1	0	0	0	738	835	29	1	66	1	AP1S3	2	224629953	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4275756	224629953	18569420	170	24803										
CUL3	8452	genome.wustl.edu	37	chr2	225365091	225365091	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgatttaccttctgaatatCtcaaaagcatgtcttggtgc	7	8	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:225365091C>T	ENST00000264414.4	-	11	1937	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	CUL3_ENST00000344951.4_Silent_p.E467E|CUL3_ENST00000409777.1_Silent_p.E509E|CUL3_ENST00000409096.1_Silent_p.E509E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	533					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCTGAATATCTCAAAAGCAT	0.403																																																	0													195	178	183					2																	225365091		2203	4300	6503	SO:0001819	synonymous_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1599G>A	2.37:g.225365091C>T			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E533	ENST00000264414.4	37	c.1599	CCDS2462.1	2																																																																																			CUL3	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.403	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	C			225365091	-1	no_errors	ENST00000264414	ensembl	human	known	70_37	silent	SNP	1.000	T	T	225365091	C	T	225365091	2	4	151	1	0	0	0	0	0	0	0	1	4061	912	32	1		1	CUL3	2	225365091	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	735138	225365091	17834282	171	24804										
AGFG1	3267	genome.wustl.edu	37	chr2	228389568	228389568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctcagacatctttgctgctCcagctcctcagtcaacagct	7	15	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:228389568C>T	ENST00000310078.8	+	5	891	c.631C>T	c.(631-633)Cca>Tca	p.P211S	AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Missense_Mutation_p.P211S|AGFG1_ENST00000409171.1_Missense_Mutation_p.P211S|AGFG1_ENST00000373671.3_Missense_Mutation_p.P211S|AGFG1_ENST00000409315.1_Missense_Mutation_p.P211S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	211					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTTGCTGCTCCAGCTCCTCA	0.468																																																	0													161	144	150					2																	228389568		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.631C>T	2.37:g.228389568C>T	ENSP00000312059:p.Pro211Ser		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.P211S	ENST00000310078.8	37	c.631	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326421	0.60743	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.27104	1.89;1.69;1.77;1.85;1.69	6.08	5.2	0.72013	.	0.053045	0.85682	N	0.000000	T	0.31009	0.0783	M	0.69823	2.125	0.58432	D	0.999998	P;B;B;B	0.44521	0.837;0.152;0.005;0.039	P;B;B;B	0.46172	0.506;0.06;0.011;0.027	T	0.17961	-1.0352	10	0.06891	T	0.86	-5.4527	12.1693	0.54148	0.0:0.8137:0.1209:0.0654	.	211;211;211;211	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	S	211;196;211;211;211;211;133	ENSP00000387282:P211S;ENSP00000312059:P211S;ENSP00000387154:P211S;ENSP00000362775:P211S;ENSP00000387218:P211S	ENSP00000312059:P211S	P	+	1	0	AGFG1	228097812	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.868000	0.69605	1.575000	0.49775	0.591000	0.81541	CCA	AGFG1	-	NULL		0.468	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	HGNC	protein_coding	OTTHUMT00000256895.2	C	NM_004504		228389568	1	no_errors	ENST00000409979	ensembl	human	known	70_37	missense	SNP	1.000	T	T	228389568	C	T	228389568	3	4	151	1	0	0	0	0	1	0	0	0	380	855	30	1	649	1	AGFG1	2	228389568	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3024477	228389568	14809805	172	24805										
SP140	11262	genome.wustl.edu	37	chr2	231115695	231115695	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggatttcttttctttctgcaGagggcagtgatgactgttca	11	7	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231115695G>A	ENST00000392045.3	+	10	1090		c.e10-1		SP140_ENST00000417495.3_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Splice_Site|SP140_ENST00000420434.3_Splice_Site|SP140_ENST00000343805.6_Splice_Site	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein						defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTTTCTGCAGAGGGCAGTGA	0.478																																																	0													83	77	79					2																	231115695		1857	4097	5954	SO:0001630	splice_region_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.977-1G>A	2.37:g.231115695G>A			E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Splice_Site	SNP	-	e10-1	ENST00000392045.3	37	c.977-1	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011536	0.19277	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	.	.	.	2.71	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1036	0.36685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SP140	230823939	0.877000	0.30153	0.525000	0.27900	0.022000	0.10575	1.966000	0.40481	1.843000	0.53566	0.542000	0.68232	.	SP140	-	-		0.478	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	G	NM_007237	Intron	231115695	1	no_errors	ENST00000392045	ensembl	human	known	70_37	splice_site	SNP	0.552	A	A	231115695	G	A	231115695	5	1	151	1	0	0	0	0	0	0	1	0	14992	956	33	1	1131	1	SP140	2	231115695	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2726127	231115695	12083678	173	24806										
SP100	6672	genome.wustl.edu	37	chr2	231368918	231368918	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggtccaagaattcccaaaGatgaaaatattaattttaaa							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231368918G>A	ENST00000264052.5	+	21	2138	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.D595N|SP100_ENST00000340126.4_Missense_Mutation_p.D595N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATTCCCAAAGATGAAAATAT	0.403																																																	0													108	115	113					2																	231368918		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1783G>A	2.37:g.231368918G>A	ENSP00000264052:p.Asp595Asn		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.D595N	ENST00000264052.5	37	c.1783	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796605	0.50208	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.81163	2.17;-1.46;0.16	4.54	2.7	0.31948	SAND domain-like (2);SAND domain (1);	1.381260	0.05386	N	0.538219	T	0.80065	0.4555	M	0.71581	2.175	0.09310	N	0.999997	P;B;P	0.37038	0.524;0.45;0.579	B;B;B	0.39738	0.171;0.224;0.308	T	0.63897	-0.6533	10	0.35671	T	0.21	.	5.6238	0.17470	0.0992:0.0:0.7071:0.1937	.	595;595;595	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	N	595;595;595;78	ENSP00000264052:D595N;ENSP00000386427:D595N;ENSP00000343023:D595N	ENSP00000264052:D595N	D	+	1	0	SP100	231077162	0.021000	0.18746	0.007000	0.13788	0.070000	0.16714	0.781000	0.26774	0.813000	0.34350	0.655000	0.94253	GAT	SP100	-	superfamily_SAND_dom-like,pfscan_SAND_dom		0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231368918	1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.009	A	A	231368918	G	A	231368918	3	1	151	1	0	0	0	0	1	0	0	0	14990	942	33	1	1865	1	SP100	2	231368918	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	253223	231368918	11830455	174	24807	141	2								
SP100	6672	genome.wustl.edu	37	chr2	231368920	231368920	+	Missense_Mutation	SNP	T	T	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtccaagaattcccaaagaTgaaaatattaattttaaaca							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231368920T>A	ENST00000264052.5	+	21	2140	c.1785T>A	c.(1783-1785)gaT>gaA	p.D595E	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.D595E|SP100_ENST00000340126.4_Missense_Mutation_p.D595E	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCCCAAAGATGAAAATATTA	0.408																																																	0													108	116	114					2																	231368920		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1785T>A	2.37:g.231368920T>A	ENSP00000264052:p.Asp595Glu		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.D595E	ENST00000264052.5	37	c.1785	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871652	0.51695	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.80480	2.25;-1.38;0.24	4.54	-9.07	0.00724	SAND domain-like (2);SAND domain (1);	1.381260	0.05386	N	0.538219	T	0.71341	0.3328	L	0.58669	1.825	0.09310	N	1	B;B;B	0.28291	0.08;0.129;0.206	B;B;B	0.33568	0.084;0.103;0.166	T	0.56251	-0.8010	10	0.22109	T	0.4	.	5.5651	0.17167	0.3157:0.3791:0.0:0.3052	.	595;595;595	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	E	595;595;595;78	ENSP00000264052:D595E;ENSP00000386427:D595E;ENSP00000343023:D595E	ENSP00000264052:D595E	D	+	3	2	SP100	231077164	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.785000	0.01767	-1.793000	0.01258	0.533000	0.62120	GAT	SP100	-	superfamily_SAND_dom-like,pfscan_SAND_dom		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	T	NM_003113		231368920	1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	A	A	231368920	T	A	231368920	3	1	151	1	0	0	0	0	1	0	0	0	14990	1461	51	5	1867	5	SP100	2	231368920	Missense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	2	231368920	11830453	175	24808	141	2								
SP100	6672	genome.wustl.edu	37	chr2	231368945	231368945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atattaattttaaacaatctGaacttcctgtgacctgtggt	6	7	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231368945G>A	ENST00000264052.5	+	21	2165	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.E604K|SP100_ENST00000340126.4_Missense_Mutation_p.E604K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	604	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAACAATCTGAACTTCCTGT	0.383																																																	0													146	152	150					2																	231368945		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1810G>A	2.37:g.231368945G>A	ENSP00000264052:p.Glu604Lys		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E604K	ENST00000264052.5	37	c.1810	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833335	0.32421	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.71698	-0.59;-0.59;-0.59	4.54	-3.82	0.04281	SAND domain-like (2);SAND domain (3);	2.167940	0.02547	N	0.095241	T	0.60625	0.2283	L	0.45051	1.395	0.09310	N	1	B;B;B	0.18610	0.024;0.018;0.029	B;B;B	0.25506	0.017;0.039;0.061	T	0.38308	-0.9667	10	0.21540	T	0.41	.	7.0844	0.25249	0.2693:0.5101:0.2205:0.0	.	604;604;604	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	K	604;604;604;87	ENSP00000264052:E604K;ENSP00000386427:E604K;ENSP00000343023:E604K	ENSP00000264052:E604K	E	+	1	0	SP100	231077189	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.058000	0.03482	-0.793000	0.04475	-0.947000	0.02670	GAA	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom		0.383	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231368945	1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	A	A	231368945	G	A	231368945	3	1	151	1	0	0	0	0	1	0	0	0	14990	1291	45	1	1892	1	SP100	2	231368945	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	25	231368945	11830428	176	24809										
INPP5D	3635	genome.wustl.edu	37	chr2	233944076	233944076	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgtttacacttacagaattCtgcccaatgaagatgataaa	7	8	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:233944076C>T	ENST00000359570.5	+	2	166	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	INPP5D_ENST00000538935.1_Silent_p.L56L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	56	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTACAGAATTCTGCCCAATGA	0.398																																					NSCLC(82;1215 1426 16163 20348 41018)												0													85	82	83					2																	233944076		1857	4104	5961	SO:0001819	synonymous_variant	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.166C>T	2.37:g.233944076C>T			O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.L56	ENST00000359570.5	37	c.166		2																																																																																			INPP5D	-	pfam_SH2,smart_SH2,pfscan_SH2		0.398	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		C	NM_001017915		233944076	1	no_errors	ENST00000359570	ensembl	human	known	70_37	silent	SNP	0.995	T	T	233944076	C	T	233944076	2	4	151	1	0	0	0	0	0	0	0	1	7776	912	32	1		1	INPP5D	2	233944076	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2575131	233944076	9255297	177	24810										
UGT1A6	54578	genome.wustl.edu	37	chr2	234601815	234601815	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcagtgaccggggtcatgaGattgtagtggtggtgcctga	16	7	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234601815G>A	ENST00000305139.6	+	1	304	c.165G>A	c.(163-165)gaG>gaA	p.E55E	AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	55					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGGGTCATGAGATTGTAGTGG	0.458																																																	0													96	94	95					2																	234601815		2203	4300	6503	SO:0001819	synonymous_variant	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.165G>A	2.37:g.234601815G>A			A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E55	ENST00000305139.6	37	c.165	CCDS2507.1	2																																																																																			UGT1A6	-	pfam_UDP_glucos_trans		0.458	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	G	NM_205862		234601815	1	no_errors	ENST00000305139	ensembl	human	known	70_37	silent	SNP	0.000	A	A	234601815	G	A	234601815	2	1	151	1	0	0	0	0	0	0	0	1	16980	933	33	1		1	UGT1A6	2	234601815	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	657739	234601815	8597558	178	24811										
TRPM8	79054	genome.wustl.edu	37	chr2	234873287	234873287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaagaccaggggctgcactCtggcagccctgggagccagc	14	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234873287C>G	ENST00000324695.4	+	14	1805	c.1765C>G	c.(1765-1767)Ctg>Gtg	p.L589V	TRPM8_ENST00000433712.2_Missense_Mutation_p.L277V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	589					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGGCTGCACTCTGGCAGCCCT	0.438																																																	0													41	46	44					2																	234873287		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1765C>G	2.37:g.234873287C>G	ENSP00000323926:p.Leu589Val		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L589V	ENST00000324695.4	37	c.1765	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	0.465	-0.887436	0.02511	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	D;D	0.98192	-4.78;-4.78	5.68	3.89	0.44902	.	0.000000	0.51477	D	0.000082	D	0.96519	0.8864	L	0.60455	1.87	0.27848	N	0.940859	D;P	0.53151	0.958;0.622	P;B	0.46629	0.522;0.112	D	0.91400	0.5142	10	0.16420	T	0.52	-15.7843	9.6501	0.39892	0.0:0.7722:0.0:0.2278	.	277;589	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	V	589;277	ENSP00000323926:L589V;ENSP00000404423:L277V	ENSP00000323926:L589V	L	+	1	2	TRPM8	234538026	0.313000	0.24554	0.659000	0.29680	0.961000	0.63080	0.627000	0.24506	0.760000	0.33108	0.650000	0.86243	CTG	TRPM8	-	NULL		0.438	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	C	NM_024080		234873287	1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	0.617	G	G	234873287	C	G	234873287	3	3	151	1	0	0	0	0	1	0	0	0	16623	912	32	1	1815	1	TRPM8	2	234873287	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	271472	234873287	8326086	179	24812										
SPP2	6694	genome.wustl.edu	37	chr2	234967524	234967524	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttggtcatgaatttagagttCagcatccgggagactacatg	11	7	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234967524C>T	ENST00000168148.3	+	3	343	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SPP2_ENST00000373368.1_Silent_p.F85F	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	85					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATTTAGAGTTCAGCATCCGGG	0.448																																																	0													131	117	122					2																	234967524		2203	4300	6503	SO:0001819	synonymous_variant	6694				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.255C>T	2.37:g.234967524C>T			A4QMV3|Q3B892|Q546M5	Silent	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.F85	ENST00000168148.3	37	c.255	CCDS2511.1	2																																																																																			SPP2	-	pfam_Spp-24,pfam_Prot_inh_cystat		0.448	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	C	NM_006944		234967524	1	no_errors	ENST00000168148	ensembl	human	known	70_37	silent	SNP	0.729	T	T	234967524	C	T	234967524	2	4	151	1	0	0	0	0	0	0	0	1	15117	825	29	1		1	SPP2	2	234967524	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	94237	234967524	8231849	180	24813										
PRR21	643905	genome.wustl.edu	37	chr2	240982052	240982052	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtgggtgaagaggcatggaCgaagggccgtgggtgaagag	21	5	0	4	rs77588089		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:240982052C>G	ENST00000408934.1	-	1	347	c.348G>C	c.(346-348)tcG>tcC	p.S116S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	116	Pro-rich.							p.S116S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.627																																																	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											5	6	6					2																	240982052		1363	2884	4247	SO:0001819	synonymous_variant	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.348G>C	2.37:g.240982052C>G				Silent	SNP	NULL	p.S116	ENST00000408934.1	37	c.348	CCDS33417.1	2																																																																																			PRR21	-	NULL		0.627	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR21	HGNC	protein_coding		C	NM_001080835		240982052	-1	no_errors	ENST00000408934	ensembl	human	known	70_37	silent	SNP	0.000	G	G	240982052	C	G	240982052	2	3	151	1	0	0	0	0	0	0	0	1	12619	523	19	2		2	PRR21	2	240982052	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6014528	240982052	2217321	181	24814										
RNPEPL1	57140	genome.wustl.edu	37	chr2	241513702	241513702	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaccaacgccacgtgggaaGagatgtggctgagcgagggc	16	10	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:241513702G>A	ENST00000270357.4	+	5	1011	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	140					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CACGTGGGAAGAGATGTGGCT	0.662																																																	0													78	67	71					2																	241513702		2203	4300	6503	SO:0001583	missense	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.418G>A	2.37:g.241513702G>A	ENSP00000270357:p.Glu140Lys		Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.E140K	ENST00000270357.4	37	c.418		2	.	.	.	.	.	.	.	.	.	.	g	34	5.346858	0.95807	.	.	ENSG00000142327	ENST00000270357	T	0.05139	3.49	5.05	5.05	0.67936	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.85197	2.74	0.58432	D	0.999994	D	0.76494	0.999	D	0.76575	0.988	T	0.04930	-1.0917	10	0.62326	D	0.03	-3.0E-4	15.8722	0.79129	0.0:0.0:1.0:0.0	.	140	Q9HAU8	RNPL1_HUMAN	K	140	ENSP00000270357:E140K	ENSP00000270357:E140K	E	+	1	0	RNPEPL1	241162375	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.013000	0.93629	2.334000	0.79466	0.586000	0.80456	GAG	RNPEPL1	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N		0.662	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241513702	1	no_errors	ENST00000270357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	241513702	G	A	241513702	3	1	151	1	0	0	0	0	1	0	0	0	13540	943	33	1	428	1	RNPEPL1	2	241513702	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	531650	241513702	1685671	182	24815										
KIF1A	547	genome.wustl.edu	37	chr2	241689949	241689949	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acggggtacagcaggttgctCaggtacacgaaggccctggg	16	10	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:241689949C>G	ENST00000320389.7	-	26	2729	c.2571G>C	c.(2569-2571)ctG>ctC	p.L857L	KIF1A_ENST00000498729.2_Silent_p.L958L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	857					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGTTGCTCAGGTACACGA	0.657																																																	0													54	61	58					2																	241689949		2141	4253	6394	SO:0001819	synonymous_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2571G>C	2.37:g.241689949C>G			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L958	ENST00000320389.7	37	c.2874	CCDS46561.1	2																																																																																			KIF1A	-	NULL		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	C	NM_138483		241689949	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	silent	SNP	1.000	G	G	241689949	C	G	241689949	2	3	151	1	0	0	0	0	0	0	0	1	8303	813	29	1		1	KIF1A	2	241689949	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	176247	241689949	1509424	183	24816										
SNED1	25992	genome.wustl.edu	37	chr2	242004841	242004841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctacgcggtcacctacgtctCctccgacggctcctaccgcc	8	20	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:242004841C>T	ENST00000310397.8	+	21	2840	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.S947F|SNED1_ENST00000342631.6_Missense_Mutation_p.S947F|SNED1_ENST00000405547.3_Missense_Mutation_p.S947F	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	947	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACCTACGTCTCCTCCGACGGC	0.647																																																	0													49	59	56					2																	242004841		2043	4181	6224	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2840C>T	2.37:g.242004841C>T	ENSP00000308893:p.Ser947Phe		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.S947F	ENST00000310397.8	37	c.2840	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021885	0.35701	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.8	3.91	0.45181	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119690	0.38058	N	0.001836	T	0.55401	0.1918	L	0.29908	0.895	0.09310	N	1	D;P;P	0.54964	0.969;0.863;0.955	P;P;P	0.53224	0.6;0.548;0.721	T	0.50303	-0.8844	10	0.59425	D	0.04	.	11.597	0.50979	0.0:0.9153:0.0:0.0847	.	947;947;947	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	F	947	ENSP00000384871:S947F;ENSP00000386007:S947F;ENSP00000308893:S947F;ENSP00000342992:S947F	ENSP00000308893:S947F	S	+	2	0	SNED1	241653514	0.334000	0.24739	0.002000	0.10522	0.051000	0.14879	4.001000	0.57046	1.000000	0.39049	0.655000	0.94253	TCC	SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	C	XM_059482		242004841	1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	0.047	T	T	242004841	C	T	242004841	3	4	151	1	0	0	0	0	1	0	0	0	14875	855	30	1	2922	1	SNED1	2	242004841	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	314892	242004841	1194532	184	24817										
CNTN6	27255	genome.wustl.edu	37	chr3	1444154	1444154	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcagcagtgaggaaattagGattccaaaaatgtcaagtaa	10	5	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:1444154G>A	ENST00000446702.2	+	22	3597	c.2970G>A	c.(2968-2970)agG>agA	p.R990R	CNTN6_ENST00000539053.1_Silent_p.R918R|CNTN6_ENST00000350110.2_Silent_p.R990R			Q9UQ52	CNTN6_HUMAN	contactin 6	990	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGAAATTAGGATTCCAAAAA	0.403																																																	0													112	106	108					3																	1444154		2203	4300	6503	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2970G>A	3.37:g.1444154G>A			Q2KHM2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R990	ENST00000446702.2	37	c.2970	CCDS2557.1	3																																																																																			CNTN6	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	G	NM_014461		1444154	1	no_errors	ENST00000350110	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1444154	G	A	1444154	2	1	151	1	0	0	0	0	0	0	0	1	3650	1165	41	1		1	CNTN6	3	1444154	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		1444154	196578276	185	24818										
CNTN4	152330	genome.wustl.edu	37	chr3	3080685	3080685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgaactggttataacctggGaggtaaatgaatcacagaat	10	6	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:3080685G>A	ENST00000397461.1	+	18	2545	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	CNTN4_ENST00000418658.1_Missense_Mutation_p.E721K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E393K|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.E393K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E502K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E721K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	721	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATAACCTGGGAGGTAAATGA	0.433																																																	0													92	87	88					3																	3080685		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2161G>A	3.37:g.3080685G>A	ENSP00000380602:p.Glu721Lys		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E721K	ENST00000397461.1	37	c.2161	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.417336	0.96092	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.49	5.49	0.81192	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.64567	1.98	0.80722	D	1	P;D	0.69078	0.939;0.997	P;P	0.60949	0.814;0.881	T	0.55095	-0.8194	10	0.17832	T	0.49	.	17.5773	0.87953	0.0:0.0:1.0:0.0	.	720;721	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	K	721;721;721;502;393;393	ENSP00000396010:E721K;ENSP00000380602:E721K;ENSP00000413642:E721K;ENSP00000351267:E502K;ENSP00000380600:E393K;ENSP00000392077:E393K	ENSP00000351267:E502K	E	+	1	0	CNTN4	3055685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.247000	0.95444	2.565000	0.86533	0.655000	0.94253	GAG	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	G			3080685	1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3080685	G	A	3080685	3	1	151	1	0	0	0	0	1	0	0	0	3648	1175	41	1	2223	1	CNTN4	3	3080685	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1636531	3080685	194941745	186	24819										
LMCD1	29995	genome.wustl.edu	37	chr3	8590398	8590398	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccgtggacttttggagaatGagttgaaactgatggaagaa	14	4	0	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:8590398G>C	ENST00000157600.3	+	4	764	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	LMCD1_ENST00000454244.1_Missense_Mutation_p.E105Q|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Missense_Mutation_p.E66Q|LMCD1_ENST00000535732.1_Missense_Mutation_p.E178Q	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	178	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTTGGAGAATGAGTTGAAACT	0.592																																																	0													119	127	124					3																	8590398		2203	4300	6503	SO:0001583	missense	29995			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.532G>C	3.37:g.8590398G>C	ENSP00000157600:p.Glu178Gln		B4DG80	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E178Q	ENST00000157600.3	37	c.532	CCDS33688.1	3	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883244	0.72410	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.75	5.75	0.90469	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.95294	0.8473	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.95038	0.8175	10	0.52906	T	0.07	-40.4453	18.5236	0.90963	0.0:0.0:1.0:0.0	.	178;66;178	F5GX84;B4DEY6;Q9NZU5	.;.;LMCD1_HUMAN	Q	178;184;178;105;66;135	ENSP00000157600:E178Q;ENSP00000400555:E184Q;ENSP00000441100:E178Q;ENSP00000396515:E105Q;ENSP00000380542:E66Q;ENSP00000411222:E135Q	ENSP00000157600:E178Q	E	+	1	0	LMCD1	8565398	1.000000	0.71417	0.917000	0.36280	0.185000	0.23345	8.673000	0.91186	2.716000	0.92895	0.655000	0.94253	GAG	LMCD1	-	pfam_PET_domain		0.592	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMCD1	HGNC	protein_coding	OTTHUMT00000337854.1	G	NM_014583		8590398	1	no_errors	ENST00000157600	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8590398	G	C	8590398	3	2	151	1	0	0	0	0	1	0	0	0	8865	1291	45	1	546	1	LMCD1	3	8590398	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5509713	8590398	189432032	187	24820										
THUMPD3	25917	genome.wustl.edu	37	chr3	9412758	9412758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttacaggaagaagttctaaaGgattttgaagacttggctgg	12	4	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:9412758G>C	ENST00000345094.3	+	4	679	c.345G>C	c.(343-345)aaG>aaC	p.K115N	THUMPD3_ENST00000515662.2_Missense_Mutation_p.K115N|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.K115N	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	115						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AAGTTCTAAAGGATTTTGAAG	0.348																																																	0													88	105	99					3																	9412758		2186	4293	6479	SO:0001583	missense	25917			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.345G>C	3.37:g.9412758G>C	ENSP00000339532:p.Lys115Asn		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.K115N	ENST00000345094.3	37	c.345	CCDS2573.1	3	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663821	0.47572	.	.	ENSG00000134077	ENST00000452837;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.48201	0.82;0.82;0.82	5.94	1.02	0.19986	.	0.242043	0.48286	D	0.000188	T	0.44222	0.1283	M	0.62723	1.935	0.45822	D	0.998691	P	0.41475	0.751	B	0.41988	0.372	T	0.31943	-0.9925	10	0.39692	T	0.17	-7.085	10.425	0.44373	0.4808:0.0:0.5192:0.0	.	115	Q9BV44	THUM3_HUMAN	N	115	ENSP00000395893:K115N;ENSP00000339532:K115N;ENSP00000424064:K115N	ENSP00000339532:K115N	K	+	3	2	THUMPD3	9387758	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.566000	0.23593	0.118000	0.18165	0.561000	0.74099	AAG	THUMPD3	-	NULL		0.348	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	G	NM_015453		9412758	1	no_errors	ENST00000345094	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9412758	G	C	9412758	3	2	151	1	0	0	0	0	1	0	0	0	15914	991	35	4	355	4	THUMPD3	3	9412758	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	822360	9412758	188609672	188	24821										
THUMPD3	25917	genome.wustl.edu	37	chr3	9412866	9412866	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagcgcaaaaagataaatcaGaattcaagtaaagagaagat	8	4	2	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:9412866G>C	ENST00000345094.3	+	4	787	c.453G>C	c.(451-453)caG>caC	p.Q151H	THUMPD3_ENST00000515662.2_Missense_Mutation_p.Q151H|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.Q151H	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	151						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGATAAATCAGAATTCAAGTA	0.328																																																	0													54	61	59					3																	9412866		2201	4299	6500	SO:0001583	missense	25917			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.453G>C	3.37:g.9412866G>C	ENSP00000339532:p.Gln151His		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.Q151H	ENST00000345094.3	37	c.453	CCDS2573.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.17|13.17	2.157411|2.157411	0.38119|0.38119	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	T;T;T|.	0.48201|.	0.82;0.82;0.82|.	5.94|5.94	-0.35|-0.35	0.12606|0.12606	.|.	0.836725|.	0.11290|.	N|.	0.579335|.	T|T	0.37732|0.37732	0.1014|0.1014	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	P|.	0.49559|.	0.925|.	P|.	0.44811|.	0.461|.	T|T	0.34601|0.34601	-0.9822|-0.9822	10|5	0.45353|.	T|.	0.12|.	-0.6597|-0.6597	2.5947|2.5947	0.04851|0.04851	0.3526:0.1117:0.4216:0.1141|0.3526:0.1117:0.4216:0.1141	.|.	151|.	Q9BV44|.	THUM3_HUMAN|.	H|T	151|8	ENSP00000395893:Q151H;ENSP00000339532:Q151H;ENSP00000424064:Q151H|.	ENSP00000339532:Q151H|.	Q|R	+|+	3|2	2|0	THUMPD3|THUMPD3	9387866|9387866	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.939000|0.939000	0.58152|0.58152	0.146000|0.146000	0.16180|0.16180	-0.066000|-0.066000	0.12998|0.12998	-0.258000|-0.258000	0.10820|0.10820	CAG|AGA	THUMPD3	-	NULL		0.328	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	G	NM_015453		9412866	1	no_errors	ENST00000345094	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9412866	G	C	9412866	3	2	151	1	0	0	0	0	1	0	0	0	15914	933	33	1	463	1	THUMPD3	3	9412866	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	108	9412866	188609564	189	24822										
TATDN2	9797	genome.wustl.edu	37	chr3	10320145	10320145	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccctatttcctccctcgccAggtaagggggtcttcaggct	10	14	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:10320145A>G	ENST00000287652.4	+	6	3195	c.2144A>G	c.(2143-2145)cAg>cGg	p.Q715R	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Splice_Site_p.Q715R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	715					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTCCCTCGCCAGGTAAGGGGG	0.617																																																	0													105	105	105					3																	10320145		2203	4300	6503	SO:0001630	splice_region_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.2145+1A>G	3.37:g.10320145A>G			Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_family	p.Q715R	ENST00000287652.4	37	c.2144	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258655	0.80246	.	.	ENSG00000157014	ENST00000287652;ENST00000448281;ENST00000426850	T;T	0.24723	1.84;1.84	5.52	5.52	0.82312	.	0.087576	0.47455	U	0.000232	T	0.26085	0.0636	N	0.17312	0.475	0.51482	D	0.99992	P	0.43662	0.814	P	0.49999	0.628	T	0.04840	-1.0923	10	0.52906	T	0.07	-35.5407	13.6286	0.62181	1.0:0.0:0.0:0.0	.	715	Q93075	TATD2_HUMAN	R	715;715;136	ENSP00000287652:Q715R;ENSP00000408736:Q715R	ENSP00000287652:Q715R	Q	+	2	0	TATDN2	10295145	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.096000	0.89537	2.099000	0.63709	0.533000	0.62120	CAG	TATDN2	-	pfam_TatD_family		0.617	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	A	XM_376203	Missense_Mutation	10320145	1	no_errors	ENST00000287652	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10320145	A	G	10320145	5	3	151	1	0	0	0	0	0	0	1	0	15622	202	7	5	2162	5	TATDN2	3	10320145	Splice_Site	SNP	A	TCGA-IR-A3LH-01A-21D-A20U-09	907279	10320145	187702285	190	24823										
SLC6A1	6529	genome.wustl.edu	37	chr3	11061998	11061998	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acatgaccagcgctgtggtgGagttctgggagtgagtatgg	17	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:11061998G>C	ENST00000287766.4	+	6	992	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Missense_Mutation_p.E13Q	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	191					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CGCTGTGGTGGAGTTCTGGGA	0.602																																																	0													108	75	86					3																	11061998		2203	4300	6503	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.571G>C	3.37:g.11061998G>C	ENSP00000287766:p.Glu191Gln		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1	p.E191Q	ENST00000287766.4	37	c.571	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452866	0.84209	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.77358	-1.09;-1.09	5.04	5.04	0.67666	.	0.071988	0.56097	D	0.000023	D	0.86908	0.6046	M	0.78916	2.43	0.80722	D	1	D	0.63880	0.993	P	0.60541	0.876	D	0.87585	0.2487	10	0.52906	T	0.07	.	18.1744	0.89757	0.0:0.0:1.0:0.0	.	191	P30531	SC6A1_HUMAN	Q	191;13	ENSP00000287766:E191Q;ENSP00000445171:E13Q	ENSP00000287766:E191Q	E	+	1	0	SLC6A1	11036998	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.519000	0.98025	2.619000	0.88677	0.561000	0.74099	GAG	SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.602	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	G	NM_003042		11061998	1	no_errors	ENST00000287766	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11061998	G	C	11061998	3	2	151	1	0	0	0	0	1	0	0	0	14703	1175	41	1	585	1	SLC6A1	3	11061998	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	741853	11061998	186960432	191	24824										
MKRN2	23609	genome.wustl.edu	37	chr3	12623441	12623441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaacagctcagttctcaagGcactgtgagggtaaggactt	12	8	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:12623441G>T	ENST00000170447.7	+	7	1240	c.1103G>T	c.(1102-1104)gGc>gTc	p.G368V	MKRN2_ENST00000411987.1_Missense_Mutation_p.G325V|MKRN2_ENST00000448482.1_Missense_Mutation_p.G366V	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	368					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGTTCTCAAGGCACTGTGAGG	0.532																																																	0													148	152	151					3																	12623441		2203	4300	6503	SO:0001583	missense	23609				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.1103G>T	3.37:g.12623441G>T	ENSP00000170447:p.Gly368Val		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.G368V	ENST00000170447.7	37	c.1103	CCDS33702.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105874	0.77096	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.26957	2.62;1.7;1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66101	-0.6007	10	0.72032	D	0.01	.	18.1565	0.89693	0.0:0.0:1.0:0.0	.	325;366;368	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	V	368;325;366	ENSP00000170447:G368V;ENSP00000396340:G325V;ENSP00000397983:G366V	ENSP00000170447:G368V	G	+	2	0	MKRN2	12598441	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	7.299000	0.78831	2.713000	0.92767	0.655000	0.94253	GGC	MKRN2	-	NULL		0.532	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN2	HGNC	protein_coding	OTTHUMT00000339679.1	G	NM_014160		12623441	1	no_errors	ENST00000170447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12623441	G	T	12623441	3	4	151	1	0	0	0	0	1	0	0	0	9630	1203	42	4	1129	4	MKRN2	3	12623441	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1561443	12623441	185398989	192	24825										
SLC22A14	9389	genome.wustl.edu	37	chr3	38347923	38347923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgacatgcttcatgtaccttCctgtgccttggaatctggat	9	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:38347923C>A	ENST00000273173.4	+	1	497	c.406C>A	c.(406-408)Cct>Act	p.P136T	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.P136T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	136					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CATGTACCTTCCTGTGCCTTG	0.522																																																	0													148	130	136					3																	38347923		2203	4300	6503	SO:0001583	missense	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.406C>A	3.37:g.38347923C>A	ENSP00000273173:p.Pro136Thr		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P136T	ENST00000273173.4	37	c.406	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144294	0.57044	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.74106	-0.81;0.05;0.05	5.46	5.46	0.80206	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.66939	2.045	0.51767	D	0.999939	D	0.71674	0.998	D	0.67231	0.95	D	0.85389	0.1124	10	0.62326	D	0.03	.	18.2465	0.89988	0.0:1.0:0.0:0.0	.	136	Q9Y267	S22AE_HUMAN	T	4;136;136;136	ENSP00000442528:P4T;ENSP00000396283:P136T;ENSP00000273173:P136T	ENSP00000273173:P136T	P	+	1	0	SLC22A14	38322927	1.000000	0.71417	0.626000	0.29213	0.052000	0.14988	6.989000	0.76219	2.741000	0.93983	0.655000	0.94253	CCT	SLC22A14	-	pfscan_MFS_dom		0.522	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	C	NM_004803		38347923	1	no_errors	ENST00000273173	ensembl	human	known	70_37	missense	SNP	0.998	A	A	38347923	C	A	38347923	3	1	151	1	0	0	0	0	1	0	0	0	14475	855	30	3	408	3	SLC22A14	3	38347923	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	25724482	38347923	159674507	193	24826										
LIMD1	8994	genome.wustl.edu	37	chr3	45715872	45715872	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgtgtcgtgtccatggacaGagactaccacgtggagtgtt	13	10	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:45715872G>C	ENST00000273317.4	+	7	1883	c.1862G>C	c.(1861-1863)aGa>aCa	p.R621T		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	621	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TCCATGGACAGAGACTACCAC	0.562																																																	0													99	87	91					3																	45715872		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1862G>C	3.37:g.45715872G>C	ENSP00000273317:p.Arg621Thr		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R621T	ENST00000273317.4	37	c.1862	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651738	0.67472	.	.	ENSG00000144791	ENST00000273317	D	0.87491	-2.26	5.71	4.65	0.58169	Zinc finger, LIM-type (4);	0.114106	0.64402	D	0.000013	D	0.91036	0.7180	M	0.88031	2.925	0.40839	D	0.983653	D	0.56035	0.974	P	0.55508	0.777	D	0.90409	0.4408	10	0.42905	T	0.14	.	6.5998	0.22695	0.2503:0.0:0.7497:0.0	.	621	Q9UGP4	LIMD1_HUMAN	T	621	ENSP00000273317:R621T	ENSP00000273317:R621T	R	+	2	0	LIMD1	45690876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.615000	0.54167	2.709000	0.92574	0.655000	0.94253	AGA	LIMD1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.562	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	G	NM_014240		45715872	1	no_errors	ENST00000273317	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45715872	G	C	45715872	3	2	151	1	0	0	0	0	1	0	0	0	8818	942	33	1	1888	1	LIMD1	3	45715872	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7367949	45715872	152306558	194	24827										
CCR3	1232	genome.wustl.edu	37	chr3	46306660	46306660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagaagtgaaatgacaacctCactagatacagttgagacct	9	8	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:46306660C>T	ENST00000357422.2	+	4	554	c.11C>T	c.(10-12)tCa>tTa	p.S4L	CCR3_ENST00000541018.1_Missense_Mutation_p.S4L|CCR3_ENST00000395940.2_Missense_Mutation_p.S4L|CCR3_ENST00000545097.1_Missense_Mutation_p.S25L|CCR3_ENST00000395942.2_Missense_Mutation_p.S4L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	4					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ATGACAACCTCACTAGATACA	0.418																																																	0													99	95	97					3																	46306660		2203	4300	6503	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.11C>T	3.37:g.46306660C>T	ENSP00000350003:p.Ser4Leu		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor	p.S25L	ENST00000357422.2	37	c.74	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301044	0.40694	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000457243;ENST00000395942	T;T;T;T;T;T;T	0.72942	-0.28;-0.27;-0.28;-0.28;2.53;-0.7;-0.28	5.52	1.48	0.22813	.	7739.210000	0.00166	N	0.000000	T	0.52108	0.1714	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20550	0.046;0.007;0.013;0.013	B;B;B;B	0.14578	0.011;0.008;0.01;0.007	T	0.47711	-0.9096	10	0.72032	D	0.01	.	5.0865	0.14684	0.3509:0.4519:0.0:0.1972	.	4;4;25;4	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	L	4;25;4;4;4;4;4	ENSP00000350003:S4L;ENSP00000441600:S25L;ENSP00000440097:S4L;ENSP00000379271:S4L;ENSP00000389336:S4L;ENSP00000401822:S4L;ENSP00000379273:S4L	ENSP00000350003:S4L	S	+	2	0	CCR3	46281664	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.116000	0.15561	0.237000	0.21200	0.563000	0.77884	TCA	CCR3	-	prints_Chemokine_CCR1		0.418	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2	C			46306660	1	no_errors	ENST00000545097	ensembl	human	known	70_37	missense	SNP	0.000	T	T	46306660	C	T	46306660	3	4	151	1	0	0	0	0	1	0	0	0	2947	838	29	1	80	1	CCR3	3	46306660	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	590788	46306660	151715770	195	24828										
DHX30	22907	genome.wustl.edu	37	chr3	47889784	47889784	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgttccctcgaagccggctgGagaaaatggtccctttccaa	10	12	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:47889784G>C	ENST00000445061.1	+	15	2808	c.2401G>C	c.(2401-2403)Gag>Cag	p.E801Q	DHX30_ENST00000348968.4_Missense_Mutation_p.E773Q|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.E829Q|DHX30_ENST00000446256.2_Missense_Mutation_p.E762Q	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	801	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCGGCTGGAGAAAATGGT	0.607																																																	0													40	46	44					3																	47889784		2203	4300	6503	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2401G>C	3.37:g.47889784G>C	ENSP00000405620:p.Glu801Gln		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E801Q	ENST00000445061.1	37	c.2401	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352839	0.41700	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.165435	0.52532	D	0.000075	T	0.05273	0.0140	L	0.37850	1.14	0.48901	D	0.99972	B;B	0.22346	0.068;0.024	B;B	0.21917	0.036;0.037	T	0.44982	-0.9292	10	0.26408	T	0.33	.	12.21	0.54373	0.0772:0.0:0.9228:0.0	.	801;762	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	Q	762;801;773;829	ENSP00000392601:E762Q;ENSP00000405620:E801Q;ENSP00000343442:E773Q;ENSP00000394682:E829Q	ENSP00000343442:E773Q	E	+	1	0	DHX30	47864788	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.982000	0.88131	2.687000	0.91594	0.655000	0.94253	GAG	DHX30	-	pfscan_Helicase_C		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	G	NM_138615		47889784	1	no_errors	ENST00000445061	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47889784	G	C	47889784	3	2	151	1	0	0	0	0	1	0	0	0	4514	1175	41	1	2462	1	DHX30	3	47889784	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1583124	47889784	150132646	196	24829										
PLXNB1	5364	genome.wustl.edu	37	chr3	48459942	48459942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagctccggctgcagagcctCatagctgagctggagaaatg	14	10	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:48459942C>T	ENST00000358536.4	-	14	3234	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E989K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E806K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E806K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	989					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCAGAGCCTCATAGCTGAGC	0.622																																																	0													21	26	24					3																	48459942		2187	4287	6474	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2965G>A	3.37:g.48459942C>T	ENSP00000351338:p.Glu989Lys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E989K	ENST00000358536.4	37	c.2965	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825077	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.59	1.74	0.24563	.	0.633028	0.16348	N	0.218375	T	0.02848	0.0085	L	0.41492	1.28	0.58432	D	0.999994	B;B	0.11235	0.001;0.004	B;B	0.15052	0.001;0.012	T	0.47341	-0.9125	10	0.27785	T	0.31	.	0.7888	0.01053	0.163:0.3625:0.1586:0.316	.	989;806	O43157;O43157-2	PLXB1_HUMAN;.	K	989;806;989;806	ENSP00000296440:E989K;ENSP00000351242:E806K;ENSP00000351338:E989K;ENSP00000414199:E806K	ENSP00000296440:E989K	E	-	1	0	PLXNB1	48434946	0.000000	0.05858	0.989000	0.46669	0.921000	0.55340	-0.082000	0.11304	0.302000	0.22762	0.561000	0.74099	GAG	PLXNB1	-	NULL		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48459942	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.912	T	T	48459942	C	T	48459942	3	4	151	1	0	0	0	0	1	0	0	0	12147	835	29	1	3542	1	PLXNB1	3	48459942	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	570158	48459942	149562488	197	24830										
SEMA3F	6405	genome.wustl.edu	37	chr3	50220166	50220166	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcttccgtgagcggtcggcaGaggcgccgcagagccccgcg	16	15	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:50220166G>A	ENST00000002829.3	+	9	1337	c.853G>A	c.(853-855)Gag>Aag	p.E285K	SEMA3F_ENST00000413852.1_Missense_Mutation_p.E186K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E254K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	285	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGGTCGGCAGAGGCGCCGCA	0.612																																																	0													59	68	65					3																	50220166		2203	4300	6503	SO:0001583	missense	6405			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.853G>A	3.37:g.50220166G>A	ENSP00000002829:p.Glu285Lys		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.E285K	ENST00000002829.3	37	c.853	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.687161	0.96784	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.333550	0.36134	N	0.002775	T	0.58836	0.2150	M	0.92367	3.3	0.58432	D	0.999997	P;P	0.46621	0.881;0.526	P;B	0.51657	0.676;0.285	T	0.69431	-0.5147	10	0.72032	D	0.01	.	18.0196	0.89251	0.0:0.0:1.0:0.0	.	254;285	C9JQ85;Q13275	.;SEM3F_HUMAN	K	254;254;186;285;254	ENSP00000392588:E254K;ENSP00000398399:E254K;ENSP00000388931:E186K;ENSP00000002829:E285K;ENSP00000409859:E254K	ENSP00000002829:E285K	E	+	1	0	SEMA3F	50195170	1.000000	0.71417	0.935000	0.37517	0.714000	0.41099	9.533000	0.98059	2.598000	0.87819	0.462000	0.41574	GAG	SEMA3F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.612	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	G	NM_004186		50220166	1	no_errors	ENST00000002829	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50220166	G	A	50220166	3	1	151	1	0	0	0	0	1	0	0	0	14059	943	33	1	883	1	SEMA3F	3	50220166	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1760224	50220166	147802264	198	24831										
ZMYND10	51364	genome.wustl.edu	37	chr3	50382636	50382636	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atggcttgcatgttcagcttCtccaggttctcatgctgctg	10	11	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:50382636C>T	ENST00000231749.3	-	2	1392	c.120G>A	c.(118-120)gaG>gaA	p.E40E	ZMYND10_ENST00000490675.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000360165.3_Silent_p.E40E|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	40					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGTTCAGCTTCTCCAGGTTCT	0.597										TSP Lung(30;0.18)																																							0													144	116	126					3																	50382636		2203	4300	6503	SO:0001819	synonymous_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.120G>A	3.37:g.50382636C>T			A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.E40	ENST00000231749.3	37	c.120	CCDS2825.1	3																																																																																			ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	C	NM_015896		50382636	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50382636	C	T	50382636	2	4	151	1	0	0	0	0	0	0	0	1	17735	912	32	1		1	ZMYND10	3	50382636	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	162470	50382636	147639794	199	24832										
VPRBP	9730	genome.wustl.edu	37	chr3	51458162	51458162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctttgcaggccagggcccgGatttggtctgcatctgtgat	14	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:51458162G>A	ENST00000335891.5	-	7	924	c.915C>T	c.(913-915)atC>atT	p.I305I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	754	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCAGGGCCCGGATTTGGTCTG	0.557																																																	0													151	147	149					3																	51458162		1998	4165	6163	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.915C>T	3.37:g.51458162G>A			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.I305	ENST00000335891.5	37	c.915		3																																																																																			VPRBP	-	superfamily_ARM-type_fold		0.557	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		G	NM_014703		51458162	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51458162	G	A	51458162	2	1	151	1	0	0	0	0	0	0	0	1	17216	1164	41	1		1	VPRBP	3	51458162	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1075526	51458162	146564268	200	24833										
NEK4	6787	genome.wustl.edu	37	chr3	52775485	52775485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtagaagaacttaactcatCctcagacagacaatgaatct	6	9	3	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:52775485C>T	ENST00000233027.5	-	13	2237	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	NEK4_ENST00000383721.4_Missense_Mutation_p.D633N|NEK4_ENST00000535191.1_Missense_Mutation_p.D590N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	679					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTTAACTCATCCTCAGACAGA	0.358																																																	0													131	123	125					3																	52775485		2203	4300	6503	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2035G>A	3.37:g.52775485C>T	ENSP00000233027:p.Asp679Asn		A5YM70|B2R633|B7Z200|Q6P576	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D679N	ENST00000233027.5	37	c.2035	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.584127	0.96578	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.80123	2.29;2.29;-1.34;1.59	5.76	5.76	0.90799	.	0.177575	0.39834	N	0.001242	D	0.89072	0.6611	M	0.74258	2.255	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.995	D;D;P	0.67548	0.952;0.937;0.884	D	0.89552	0.3800	10	0.87932	D	0	.	17.2383	0.87006	0.0:1.0:0.0:0.0	.	590;633;679	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	N	679;590;633;590	ENSP00000233027:D679N;ENSP00000437703:D590N;ENSP00000373227:D633N;ENSP00000419666:D590N	ENSP00000233027:D679N	D	-	1	0	NEK4	52750525	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.103000	0.71492	2.882000	0.98803	0.655000	0.94253	GAT	NEK4	-	NULL		0.358	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	C	NM_003157		52775485	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52775485	C	T	52775485	3	4	151	1	0	0	0	0	1	0	0	0	10350	855	30	1	506	1	NEK4	3	52775485	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1317323	52775485	145246945	201	24834										
CCDC66	285331	genome.wustl.edu	37	chr3	56627714	56627714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggttgaaccttcagaggagGagcatatagcaaaacctatt	10	7	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:56627714G>A	ENST00000394672.3	+	9	1334	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CCDC66_ENST00000436465.2_Missense_Mutation_p.E422K|CCDC66_ENST00000326595.7_Missense_Mutation_p.E388K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	422					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTCAGAGGAGGAGCATATAGC	0.423																																																	0													99	90	93					3																	56627714		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1264G>A	3.37:g.56627714G>A	ENSP00000378167:p.Glu422Lys		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.E422K	ENST00000394672.3	37	c.1264	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777864	0.49786	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.65	3.84	0.44239	.	0.347756	0.32868	N	0.005547	T	0.45256	0.1333	M	0.70595	2.14	0.24936	N	0.991888	B	0.27351	0.176	B	0.21917	0.037	T	0.47824	-0.9087	10	0.56958	D	0.05	-9.6909	10.8134	0.46559	0.1496:0.0:0.8504:0.0	.	422	A2RUB6	CCD66_HUMAN	K	378;422;388;422	ENSP00000401451:E378K;ENSP00000378167:E422K;ENSP00000326050:E388K;ENSP00000404320:E422K	ENSP00000326050:E388K	E	+	1	0	CCDC66	56602754	0.995000	0.38212	0.148000	0.22405	0.541000	0.35023	4.214000	0.58527	1.632000	0.50472	0.655000	0.94253	GAG	CCDC66	-	NULL		0.423	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	G	NM_001012506		56627714	1	no_errors	ENST00000394672	ensembl	human	known	70_37	missense	SNP	0.038	A	A	56627714	G	A	56627714	3	1	151	1	0	0	0	0	1	0	0	0	2843	1175	41	1	1298	1	CCDC66	3	56627714	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3852229	56627714	141394716	202	24835										
ACOX2	8309	genome.wustl.edu	37	chr3	58490952	58490952	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgaatactgttggttatttCatagcttggatctccaactt	7	7	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:58490952C>T	ENST00000302819.5	-	15	2336	c.2045G>A	c.(2044-2046)tGa>tAa	p.*682*	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Silent_p.*668*	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	0					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTGGTTATTTCATAGCTTGGA	0.323																																																	0													185	186	185					3																	58490952		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.2045G>A	3.37:g.58490952C>T			A6NF16|B2R8U5	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.*682	ENST00000302819.5	37	c.2045	CCDS33775.1	3																																																																																			ACOX2	-	NULL		0.323	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58490952	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	silent	SNP	0.999	T	T	58490952	C	T	58490952	2	4	151	1	0	0	0	0	0	0	0	1	159	837	29	1		1	ACOX2	3	58490952	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1863238	58490952	139531478	203	24836										
FRMD4B	23150	genome.wustl.edu	37	chr3	69265484	69265484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcttattccaagccaccaaGgaagtccttgcttatcctag	7	12	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:69265484G>C	ENST00000398540.3	-	11	889	c.806C>G	c.(805-807)cCt>cGt	p.P269R	FRMD4B_ENST00000542259.1_Missense_Mutation_p.P215R	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	269	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AAGCCACCAAGGAAGTCCTTG	0.388																																																	0													77	68	71					3																	69265484		1865	4114	5979	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.806C>G	3.37:g.69265484G>C	ENSP00000381549:p.Pro269Arg		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P269R	ENST00000398540.3	37	c.806	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887782	0.72410	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880	D;D;D	0.81821	-1.54;-1.54;-1.54	5.44	4.57	0.56435	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	M	0.72894	2.215	0.58432	D	0.999997	D;P	0.76494	0.999;0.938	D;P	0.87578	0.998;0.864	D	0.88941	0.3380	10	0.66056	D	0.02	-13.1221	13.1318	0.59387	0.0786:0.0:0.9214:0.0	.	113;269	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	R	269;215;160	ENSP00000381549:P269R;ENSP00000437658:P215R;ENSP00000418962:P160R	ENSP00000381549:P269R	P	-	2	0	FRMD4B	69348174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.002000	0.93572	1.290000	0.44636	0.573000	0.79308	CCT	FRMD4B	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.388	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69265484	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69265484	G	C	69265484	3	2	151	1	0	0	0	0	1	0	0	0	6070	1000	35	4	2350	4	FRMD4B	3	69265484	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10774532	69265484	128756946	204	24837										
OR5H15	403274	genome.wustl.edu	37	chr3	97887764	97887764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttgtggatgcttggatatCatccacagtgaccccaaaga	9	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:97887764C>T	ENST00000356526.2	+	1	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCTTGGATATCATCCACAGTG	0.403																																																	0													71	73	72					3																	97887764		2202	4277	6479	SO:0001583	missense	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.221C>T	3.37:g.97887764C>T	ENSP00000373195:p.Ser74Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74L	ENST00000356526.2	37	c.221	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	11.79	1.743638	0.30865	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00832	5.64	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36815	N	0.002391	T	0.06142	0.0159	M	0.90814	3.15	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02064	-1.1220	10	0.87932	D	0	.	10.7066	0.45958	0.0:1.0:0.0:0.0	.	74	A6NDH6	O5H15_HUMAN	L	74	ENSP00000373195:S74L	ENSP00000373195:S74L	S	+	2	0	OR5H15	99370454	0.000000	0.05858	0.975000	0.42487	0.359000	0.29487	0.225000	0.17757	1.386000	0.46466	0.184000	0.17185	TCA	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.403	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	C			97887764	1	no_errors	ENST00000356526	ensembl	human	known	70_37	missense	SNP	0.124	T	T	97887764	C	T	97887764	3	4	151	1	0	0	0	0	1	0	0	0	11185	838	29	1	223	1	OR5H15	3	97887764	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	28622280	97887764	100134666	205	24838										
MORC1	27136	genome.wustl.edu	37	chr3	108751580	108751580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaatacctgttttccaagcGgttgggattattagcacaaa	8	7	0	0	rs115832406		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:108751580G>T	ENST00000483760.1	-	16	1595	c.1552C>A	c.(1552-1554)Cgc>Agc	p.R518S	MORC1_ENST00000232603.5_Missense_Mutation_p.R518S					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTCCAAGCGGTTGGGATTA	0.279																																																	0													50	52	51					3																	108751580		2200	4295	6495	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1552C>A	3.37:g.108751580G>T	ENSP00000417282:p.Arg518Ser			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.R518S	ENST00000483760.1	37	c.1552		3	.	.	.	.	.	.	.	.	.	.	G	4.332	0.061047	0.08339	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05258	3.47;3.48	4.73	3.82	0.43975	Zinc finger, CW-type (2);	1.638180	0.03538	N	0.223535	T	0.03220	0.0094	N	0.00873	-1.125	0.09310	N	0.999996	B;B	0.19073	0.033;0.003	B;B	0.23716	0.048;0.006	T	0.33701	-0.9858	10	0.38643	T	0.18	2.5965	9.6869	0.40105	0.0:0.0:0.784:0.216	.	518;518	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	518	ENSP00000232603:R518S;ENSP00000417282:R518S	ENSP00000232603:R518S	R	-	1	0	MORC1	110234270	0.447000	0.25673	0.324000	0.25361	0.985000	0.73830	0.697000	0.25556	1.132000	0.42129	0.655000	0.94253	CGC	MORC1	-	pfam_Znf_CW,pfscan_Znf_CW		0.279	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G			108751580	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	missense	SNP	0.579	T	T	108751580	G	T	108751580	3	4	151	1	0	0	0	0	1	0	0	0	9724	1116	39	2	1454	2	MORC1	3	108751580	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10863816	108751580	89270850	206	24839										
TMPRSS7	344805	genome.wustl.edu	37	chr3	111766716	111766716	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgggctacctgattcgtctCtcaatcaagtccatccaaat	7	12	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:111766716C>G	ENST00000452346.2	+	7	864	c.861C>G	c.(859-861)ctC>ctG	p.L287L	TMPRSS7_ENST00000419127.1_Silent_p.L161L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	287	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGATTCGTCTCTCAATCAAGT	0.527																																																	0													103	105	105					3																	111766716		2085	4211	6296	SO:0001819	synonymous_variant	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.861C>G	3.37:g.111766716C>G			C9J8P7|E9PAS3|Q17RH4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L161	ENST00000452346.2	37	c.483		3																																																																																			TMPRSS7	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.527	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	C	XM_293599		111766716	1	no_errors	ENST00000419127	ensembl	human	known	70_37	silent	SNP	1.000	G	G	111766716	C	G	111766716	2	3	151	1	0	0	0	0	0	0	0	1	16282	900	32	1		1	TMPRSS7	3	111766716	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3015136	111766716	86255714	207	24840										
NAA50	80218	genome.wustl.edu	37	chr3	113440729	113440729	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttctttgtctcaataatctCaaagccaaacttcctgtaga	4	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:113440729C>G	ENST00000240922.3	-	5	712	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493454.1_Missense_Mutation_p.E56Q|NAA50_ENST00000493900.1_Missense_Mutation_p.E129Q|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000497525.1_Missense_Mutation_p.E56Q|NAA50_ENST00000477813.1_Missense_Mutation_p.E90Q	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	130	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						TCAATAATCTCAAAGCCAAAC	0.388																																																	0													108	106	107					3																	113440729		2203	4300	6503	SO:0001583	missense	80218			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"N(alpha)-acetyltransferase subunits"	29533	protein-coding gene	gene with protein product		610834	"Mak3 homolog (S. cerevisiae)", "N-acetyltransferase 13", "N-acetyltransferase 13 (GCN5-related)"	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.388G>C	3.37:g.113440729C>G	ENSP00000240922:p.Glu130Gln		D3DN74|Q68DQ1	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E130Q	ENST00000240922.3	37	c.388	CCDS2975.1	3	.	.	.	.	.	.	.	.	.	.	.	13.65	2.300704	0.40694	.	.	ENSG00000121579	ENST00000240922;ENST00000313396;ENST00000477813;ENST00000497525;ENST00000493454;ENST00000493900	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.71	4.82	0.62117	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.046260	0.85682	D	0.000000	T	0.27454	0.0674	L	0.52364	1.645	0.58432	D	0.999999	B	0.02656	0.0	B	0.11329	0.006	T	0.03025	-1.1081	10	0.48119	T	0.1	-20.7401	15.8599	0.79014	0.1367:0.8633:0.0:0.0	.	130	Q9GZZ1	NAA50_HUMAN	Q	130;42;90;56;56;129	ENSP00000240922:E130Q;ENSP00000417110:E90Q;ENSP00000417488:E56Q;ENSP00000418473:E56Q;ENSP00000417837:E129Q	ENSP00000240922:E130Q	E	-	1	0	NAA50	114923419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.759000	0.68785	1.374000	0.46228	0.655000	0.94253	GAG	NAA50	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.388	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA50	HGNC	protein_coding	OTTHUMT00000354446.2	C	NM_025146		113440729	-1	no_errors	ENST00000240922	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113440729	C	G	113440729	3	3	151	1	0	0	0	0	1	0	0	0	10149	835	29	1	125	1	NAA50	3	113440729	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1674013	113440729	84581701	208	24841										
GOLGB1	2804	genome.wustl.edu	37	chr3	121409879	121409879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctgtttaagagtccctgttCtttcaactgtgccaattcct	6	11	3	1	rs377678243		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:121409879C>G	ENST00000340645.5	-	14	8442	c.8317G>C	c.(8317-8319)Gaa>Caa	p.E2773Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2778Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2773					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTCCCTGTTCTTTCAACTGT	0.408																																																	0													143	131	135					3																	121409879		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8317G>C	3.37:g.121409879C>G	ENSP00000341848:p.Glu2773Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2773Q	ENST00000340645.5	37	c.8317	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	3.974	-0.007825	0.07773	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17854	2.25;2.25	5.3	5.3	0.74995	.	0.185899	0.37623	N	0.002002	T	0.36248	0.0960	M	0.65975	2.015	0.42123	D	0.991435	B;D;B	0.63880	0.0;0.993;0.0	B;P;B	0.58266	0.002;0.836;0.001	T	0.02829	-1.1105	10	0.49607	T	0.09	.	16.4994	0.84253	0.0:1.0:0.0:0.0	.	2778;2778;2773	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2773;2778	ENSP00000341848:E2773Q;ENSP00000377275:E2778Q	ENSP00000341848:E2773Q	E	-	1	0	GOLGB1	122892569	1.000000	0.71417	0.953000	0.39169	0.113000	0.19764	2.458000	0.45014	2.756000	0.94617	0.655000	0.94253	GAA	GOLGB1	-	NULL		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121409879	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.999	G	G	121409879	C	G	121409879	3	3	151	1	0	0	0	0	1	0	0	0	6584	922	32	1	1498	1	GOLGB1	3	121409879	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7969150	121409879	76612551	209	24842										
GOLGB1	2804	genome.wustl.edu	37	chr3	121445852	121445852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagcttatgttttatcttttCtatttccatctcttcctctg	4	10	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:121445852C>G	ENST00000340645.5	-	5	564	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E147Q|GOLGB1_ENST00000472829.1_5'Flank	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	147					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTATCTTTTCTATTTCCATC	0.373																																																	0													203	176	185					3																	121445852		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.439G>C	3.37:g.121445852C>G	ENSP00000341848:p.Glu147Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E147Q	ENST00000340645.5	37	c.439	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.304827|1.304827	0.23736|0.23736	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25912|.	2.4;2.34;1.77|.	5.47|5.47	4.59|4.59	0.56863|0.56863	.|.	0.229512|.	0.30667|.	N|.	0.009128|.	T|.	0.51500|.	0.1678|.	L|L	0.56769|0.56769	1.78|1.78	0.26941|0.26941	N|N	0.966259|0.966259	P;D;P;D;P|.	0.60160|.	0.933;0.987;0.933;0.987;0.933|.	P;P;P;P;P|.	0.57468|.	0.623;0.821;0.623;0.821;0.623|.	T|.	0.44982|.	-0.9292|.	10|.	0.24483|.	T|.	0.36|.	.|.	10.512|10.512	0.44868|0.44868	0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09	.|.	108;147;147;147;147|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	Q|Y	147;147;147;34|92	ENSP00000341848:E147Q;ENSP00000377275:E147Q;ENSP00000418231:E147Q|.	ENSP00000341848:E147Q|.	E|X	-|-	1|3	0|2	GOLGB1|GOLGB1	122928542|122928542	0.884000|0.884000	0.30299|0.30299	0.790000|0.790000	0.31976|0.31976	0.067000|0.067000	0.16453|0.16453	2.175000|2.175000	0.42491|0.42491	1.442000|1.442000	0.47568|0.47568	0.650000|0.650000	0.86243|0.86243	GAA|TAG	GOLGB1	-	NULL		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121445852	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.873	G	G	121445852	C	G	121445852	3	3	151	1	0	0	0	0	1	0	0	0	6584	922	32	1	9412	1	GOLGB1	3	121445852	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	35973	121445852	76576578	210	24843										
OSBPL11	114885	genome.wustl.edu	37	chr3	125257330	125257330	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcctgcttctccagaggtctCactcttttcttcgtcactgc	6	15	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:125257330C>T	ENST00000296220.5	-	11	2278	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	663					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.V663V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCAGAGGTCTCACTCTTTTCT	0.428																																																	1	Substitution - coding silent(1)	lung(1)											319	275	290					3																	125257330		2203	4300	6503	SO:0001819	synonymous_variant	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1989G>A	3.37:g.125257330C>T			A8K9I7	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V663	ENST00000296220.5	37	c.1989	CCDS3033.1	3																																																																																			OSBPL11	-	pfam_Oxysterol-bd		0.428	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	C	NM_022776		125257330	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	silent	SNP	0.557	T	T	125257330	C	T	125257330	2	4	151	1	0	0	0	0	0	0	0	1	11300	813	29	1		1	OSBPL11	3	125257330	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3811478	125257330	72765100	211	24844										
OSBPL11	114885	genome.wustl.edu	37	chr3	125295085	125295085	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aattagttcttttgctcagtGattgcagtttggaatgtcca	9	6	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:125295085G>A	ENST00000296220.5	-	5	903	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	205					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTTGCTCAGTGATTGCAGTTT	0.353																																																	0													134	139	137					3																	125295085		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.614C>T	3.37:g.125295085G>A	ENSP00000296220:p.Ser205Leu		A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S205L	ENST00000296220.5	37	c.614	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077731	0.55753	.	.	ENSG00000144909	ENST00000296220	T	0.39787	1.06	5.06	5.06	0.68205	.	2.024510	0.02309	N	0.071910	T	0.45696	0.1355	L	0.44542	1.39	0.28330	N	0.921834	B	0.18741	0.03	B	0.18561	0.022	T	0.47114	-0.9142	10	0.22109	T	0.4	-5.6784	18.7026	0.91626	0.0:0.0:1.0:0.0	.	205	Q9BXB4	OSB11_HUMAN	L	205	ENSP00000296220:S205L	ENSP00000296220:S205L	S	-	2	0	OSBPL11	126777775	0.982000	0.34865	0.501000	0.27601	0.983000	0.72400	5.982000	0.70532	2.645000	0.89757	0.552000	0.68991	TCA	OSBPL11	-	NULL		0.353	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	G	NM_022776		125295085	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	missense	SNP	0.483	A	A	125295085	G	A	125295085	3	1	151	1	0	0	0	0	1	0	0	0	11300	1294	45	1	1665	1	OSBPL11	3	125295085	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	37755	125295085	72727345	212	24845										
DNAJC13	23317	genome.wustl.edu	37	chr3	132211367	132211367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccattcctataatcaactatCcacaactcgaaaatgaacta	2	12	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:132211367C>G	ENST00000260818.6	+	33	3981	c.3733C>G	c.(3733-3735)Cca>Gca	p.P1245A		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1245					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AATCAACTATCCACAACTCGA	0.403																																																	0													181	197	191					3																	132211367		2203	4299	6502	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3733C>G	3.37:g.132211367C>G	ENSP00000260818:p.Pro1245Ala		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.P1245A	ENST00000260818.6	37	c.3733	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889399	0.91889	.	.	ENSG00000138246	ENST00000260818	T	0.21543	2.0	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.73372	2.23	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43180	-0.9407	10	0.62326	D	0.03	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1245	O75165	DJC13_HUMAN	A	1245	ENSP00000260818:P1245A	ENSP00000260818:P1245A	P	+	1	0	DNAJC13	133694057	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	CCA	DNAJC13	-	superfamily_ARM-type_fold		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	C	NM_015268		132211367	1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	G	G	132211367	C	G	132211367	3	3	151	1	0	0	0	0	1	0	0	0	4642	855	30	1	3859	1	DNAJC13	3	132211367	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6916282	132211367	65811063	213	24846										
TXNDC6	347736	genome.wustl.edu	37	chr3	138037001	138037001	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtacttactgcataaaacaGaaaggttggctcgcacttcc	8	10	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:138037001G>C	ENST00000333911.3	-	4	283	c.256C>G	c.(256-258)Ctg>Gtg	p.L86V	NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Missense_Mutation_p.L64V|NME9_ENST00000341790.5_Intron|NME9_ENST00000536478.1_Missense_Mutation_p.L64V|NME9_ENST00000383180.2_Missense_Mutation_p.L64V			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	86	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCATAAAACAGAAAGGTTGGC	0.418																																																	0													134	119	124					3																	138037001		2203	4300	6503	SO:0001583	missense	347736			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.256C>G	3.37:g.138037001G>C	ENSP00000335444:p.Leu86Val		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.L86V	ENST00000333911.3	37	c.256		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.662990|3.662990	0.67700|0.67700	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751|ENST00000474690	T;T;T;T;T|.	0.16196|.	4.0;4.0;4.0;2.36;2.36|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Thioredoxin domain (1);Thioredoxin-like fold (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.53850|0.53850	0.1822|0.1822	N|N	0.26092|0.26092	0.79|0.79	0.36398|0.36398	D|D	0.862931|0.862931	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.80764|.	0.964;0.994|.	T|T	0.58645|0.58645	-0.7600|-0.7600	10|5	0.66056|.	D|.	0.02|.	-11.74|-11.74	15.9633|15.9633	0.79948|0.79948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	86;64|.	Q86XW9;Q86XW9-2|.	TXND6_HUMAN;.|.	V|C	64;64;64;86;86|55	ENSP00000372667:L64V;ENSP00000321929:L64V;ENSP00000440143:L64V;ENSP00000335444:L86V;ENSP00000419147:L86V|.	ENSP00000321929:L64V|.	L|S	-|-	1|2	2|0	TXNDC6|TXNDC6	139519691|139519691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	7.074000|7.074000	0.76791|0.76791	2.357000|2.357000	0.79964|0.79964	0.491000|0.491000	0.48974|0.48974	CTG|TCT	NME9	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.418	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	HGNC	protein_coding	OTTHUMT00000357583.1	G	NM_178130		138037001	-1	no_errors	ENST00000333911	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138037001	G	C	138037001	3	2	151	1	0	0	0	0	1	0	0	0	16831	933	33	1	629	1	TXNDC6	3	138037001	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5825634	138037001	59985429	214	24847										
GK5	256356	genome.wustl.edu	37	chr3	141884578	141884578	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaaccacttcactttgtctCagtttctttagttcctcctt	3	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:141884578C>G	ENST00000392993.2	-	16	1627	c.1476G>C	c.(1474-1476)ctG>ctC	p.L492L		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	492					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CACTTTGTCTCAGTTTCTTTA	0.358																																																	0													153	137	142					3																	141884578		2203	4300	6503	SO:0001819	synonymous_variant	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1476G>C	3.37:g.141884578C>G			B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.L492	ENST00000392993.2	37	c.1476	CCDS33871.1	3																																																																																			GK5	-	NULL		0.358	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141884578	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	silent	SNP	1.000	G	G	141884578	C	G	141884578	2	3	151	1	0	0	0	0	0	0	0	1	6441	813	29	1		1	GK5	3	141884578	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3847577	141884578	56137852	215	24848										
FAM194A	131831	genome.wustl.edu	37	chr3	150404129	150404129	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggttcagctttctctttaGaggctttcttccctgtgaaa	8	10	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:150404129G>C	ENST00000295910.6	-	4	618	c.566C>G	c.(565-567)tCt>tGt	p.S189C	FAM194A_ENST00000491361.1_Missense_Mutation_p.S43C	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTCTCTTTAGAGGCTTTCTT	0.373																																																	0													133	128	130					3																	150404129		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.566C>G	3.37:g.150404129G>C	ENSP00000295910:p.Ser189Cys			Missense_Mutation	SNP	NULL	p.S189C	ENST00000295910.6	37	c.566	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	7.360	0.624636	0.14193	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811;ENST00000474463	T;T;T	0.53423	2.57;2.4;0.62	3.23	0.0945	0.14481	.	3.213040	0.00887	N	0.002183	T	0.39682	0.1087	L	0.34521	1.04	0.09310	N	1	P	0.39624	0.681	B	0.41202	0.35	T	0.24404	-1.0161	10	0.56958	D	0.05	6.4136	3.4211	0.07393	0.1372:0.0:0.4156:0.4471	.	189	Q7L0X2	F194A_HUMAN	C	189;43;147;163	ENSP00000295910:S189C;ENSP00000419366:S43C;ENSP00000419304:S163C	ENSP00000295910:S189C	S	-	2	0	FAM194A	151886819	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.387000	0.20718	0.006000	0.14734	0.436000	0.28706	TCT	FAM194A	-	NULL		0.373	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	G			150404129	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150404129	G	C	150404129	3	2	151	1	0	0	0	0	1	0	0	0	5541	942	33	1	1469	1	FAM194A	3	150404129	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8519551	150404129	47618301	216	24849										
IGSF10	285313	genome.wustl.edu	37	chr3	151155959	151155959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ataactgttaagtggaccttCatttcatctttccctagggt	7	9	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:151155959C>T	ENST00000282466.3	-	6	6389	c.6390G>A	c.(6388-6390)atG>atA	p.M2130I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2130	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGGACCTTCATTTCATCTT	0.443																																																	0													85	77	80					3																	151155959		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6390G>A	3.37:g.151155959C>T	ENSP00000282466:p.Met2130Ile		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.M2130I	ENST00000282466.3	37	c.6390	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658486	0.67586	.	.	ENSG00000152580	ENST00000282466	T	0.66280	-0.2	5.86	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	T	0.66346	0.2780	N	0.20357	0.565	0.58432	D	0.999997	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.995	T	0.65109	-0.6248	10	0.27082	T	0.32	.	16.1192	0.81329	0.1347:0.8653:0.0:0.0	.	2130;157	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2130	ENSP00000282466:M2130I	ENSP00000282466:M2130I	M	-	3	0	IGSF10	152638649	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.440000	0.80464	1.419000	0.47118	0.655000	0.94253	ATG	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151155959	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151155959	C	T	151155959	3	4	151	1	0	0	0	0	1	0	0	0	7617	826	29	1	1485	1	IGSF10	3	151155959	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	751830	151155959	46866471	217	24850										
SHOX2	6474	genome.wustl.edu	37	chr3	157815852	157815852	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcggcgtgctttttggctttCagtctgagatcggcgatgct	14	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:157815852C>G	ENST00000425436.3	-	5	985	c.960G>C	c.(958-960)ctG>ctC	p.L320L	SHOX2_ENST00000441443.2_Silent_p.L179L|SHOX2_ENST00000490689.2_Silent_p.L179L|SHOX2_ENST00000483851.2_Silent_p.L308L|SHOX2_ENST00000389589.4_Silent_p.L344L	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	320					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTTGGCTTTCAGTCTGAGAT	0.687																																																	0													188	201	196					3																	157815852		2203	4300	6503	SO:0001819	synonymous_variant	6474			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.960G>C	3.37:g.157815852C>G			O60465|O60467|O60903	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif	p.L344	ENST00000425436.3	37	c.1032	CCDS43164.1	3																																																																																			SHOX2	-	pfam_OAR_dom,pfscan_OAR_dom		0.687	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHOX2	HGNC	protein_coding	OTTHUMT00000352057.2	C			157815852	-1	no_errors	ENST00000425436	ensembl	human	known	70_37	silent	SNP	1.000	G	G	157815852	C	G	157815852	2	3	151	1	0	0	0	0	0	0	0	1	14319	813	29	1		1	SHOX2	3	157815852	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6659893	157815852	40206578	218	24851										
ZBBX	79740	genome.wustl.edu	37	chr3	167051764	167051764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caatacattgaataatatttGagattttgcctattaaaaaa	4	4	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:167051764G>C	ENST00000392766.2	-	10	878	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	ZBBX_ENST00000392764.1_Missense_Mutation_p.Q151E|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q180E|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q180E|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q180E|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	180						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATAATATTTGAGATTTTGCC	0.279																																																	0													64	57	59					3																	167051764		1785	4060	5845	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.538C>G	3.37:g.167051764G>C	ENSP00000376519:p.Gln180Glu		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.Q180E	ENST00000392766.2	37	c.538	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857412	0.17106	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10763	3.01;3.01;3.0;3.0;2.84	4.79	3.9	0.45041	.	0.259578	0.19817	U	0.105406	T	0.12944	0.0314	L	0.56769	1.78	0.32055	N	0.596478	B;B	0.15930	0.015;0.009	B;B	0.19946	0.027;0.012	T	0.03545	-1.1026	10	0.36615	T	0.2	-7.9906	11.4442	0.50114	0.0:0.1818:0.8182:0.0	.	180;180	A8MT70-2;A8MT70	.;ZBBX_HUMAN	E	180;180;180;180;151	ENSP00000376519:Q180E;ENSP00000376520:Q180E;ENSP00000390232:Q180E;ENSP00000305065:Q180E;ENSP00000376517:Q151E	ENSP00000305065:Q180E	Q	-	1	0	ZBBX	168534458	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	2.349000	0.44054	1.093000	0.41377	0.650000	0.86243	CAA	ZBBX	-	NULL		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167051764	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	0.999	C	C	167051764	G	C	167051764	3	2	151	1	0	0	0	0	1	0	0	0	17547	1299	45	1	1912	1	ZBBX	3	167051764	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9235912	167051764	30970666	219	24852										
MYNN	55892	genome.wustl.edu	37	chr3	169492152	169492152	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagcgggaagcaggttttctCtgtgactgtaccatagtgat	12	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:169492152C>G	ENST00000349841.5	+	2	732	c.69C>G	c.(67-69)ctC>ctG	p.L23L	MYNN_ENST00000544106.1_Silent_p.L23L|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000356716.4_Silent_p.L23L|MYNN_ENST00000392733.1_Silent_p.L23L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAGGTTTTCTCTGTGACTGTA	0.428																																																	0													202	191	195					3																	169492152		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.69C>G	3.37:g.169492152C>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L23	ENST00000349841.5	37	c.69	CCDS3207.1	3																																																																																			MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold		0.428	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169492152	1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	0.994	G	G	169492152	C	G	169492152	2	3	151	1	0	0	0	0	0	0	0	1	10084	900	32	1		1	MYNN	3	169492152	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2440388	169492152	28530278	220	24853										
LRRC34	151827	genome.wustl.edu	37	chr3	169514687	169514687	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacatggactgtagactcttCctaaaagtggataaaatctt	7	7	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:169514687C>T	ENST00000316515.7	-	7	895	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	LRRC34_ENST00000522830.1_Splice_Site_p.E191K|LRRC34_ENST00000446859.1_Splice_Site_p.E252K|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Splice_Site_p.E220K	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	207										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTAGACTCTTCCTAAAAGTGG	0.294																																																	0													80	78	78					3																	169514687		2203	4300	6503	SO:0001630	splice_region_variant	151827			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.619-1G>A	3.37:g.169514687C>T			B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E252K	ENST00000316515.7	37	c.754		3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937135	0.92458	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.75260	0.57;0.63;0.57;0.63;-0.92	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.77486	2.375	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.952;1.0;1.0;1.0	D;P;D;D;D	0.83275	0.965;0.683;0.983;0.987;0.996	D	0.86408	0.1746	10	0.49607	T	0.09	-24.6827	20.0349	0.97554	0.0:1.0:0.0:0.0	.	239;191;191;252;207	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	K	252;207;191;220;1	ENSP00000414635:E252K;ENSP00000326150:E207K;ENSP00000429593:E191K;ENSP00000429278:E220K;ENSP00000436883:E1K	ENSP00000326150:E207K	E	-	1	0	LRRC34	170997381	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.143000	0.71756	2.744000	0.94065	0.650000	0.86243	GAA	LRRC34	-	NULL		0.294	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		C	NM_153353	Missense_Mutation	169514687	-1	no_errors	ENST00000446859	ensembl	human	known	70_37	missense	SNP	1.000	T	T	169514687	C	T	169514687	5	4	151	1	0	0	0	0	0	0	1	0	9012	869	30	1	678	1	LRRC34	3	169514687	Splice_Site	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	22535	169514687	28507743	221	24854										
SLC7A14	57709	genome.wustl.edu	37	chr3	170184915	170184915	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtttgtgtttgcttttgctCttcgctttgctacttgtccg	9	9	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:170184915C>T	ENST00000231706.5	-	8	2559	c.2244G>A	c.(2242-2244)aaG>aaA	p.K748K	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	748					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCTTTTGCTCTTCGCTTTGC	0.488																																																	0													159	135	143					3																	170184915		2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2244G>A	3.37:g.170184915C>T			B3KV33|Q9HCF9	Silent	SNP	pfam_AA-permease_dom	p.K748	ENST00000231706.5	37	c.2244	CCDS33892.1	3																																																																																			SLC7A14	-	NULL		0.488	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170184915	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	silent	SNP	1.000	T	T	170184915	C	T	170184915	2	4	151	1	0	0	0	0	0	0	0	1	14726	912	32	1		1	SLC7A14	3	170184915	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	670228	170184915	27837515	222	24855										
ECT2	1894	genome.wustl.edu	37	chr3	172486809	172486809	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtttcagacaccccaaagtCttgtactaagtcttctaaaa	5	11	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:172486809C>G	ENST00000392692.3	+	13	1480	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C	ECT2_ENST00000441497.2_Missense_Mutation_p.S404C|ECT2_ENST00000540509.1_Missense_Mutation_p.S435C|SNORA72_ENST00000363485.1_RNA|ECT2_ENST00000232458.5_Missense_Mutation_p.S404C|ECT2_ENST00000427830.1_Missense_Mutation_p.S404C|ECT2_ENST00000417960.1_Missense_Mutation_p.S403C	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	435					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACCCCAAAGTCTTGTACTAAG	0.353																																																	0													103	102	103					3																	172486809		2203	4300	6503	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1304C>G	3.37:g.172486809C>G	ENSP00000376457:p.Ser435Cys		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.S404C	ENST00000392692.3	37	c.1211	CCDS58860.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417060|3.417060	0.62511|0.62511	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000444250|ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	.|T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Dbl homology (DH) domain (5);	.|0.158424	.|0.44902	.|D	.|0.000412	T|T	0.44705|0.44705	0.1306|0.1306	N|N	0.19112|0.19112	0.55|0.55	0.44562|0.44562	D|D	0.997521|0.997521	.|D;D;D;D	.|0.62365	.|0.987;0.978;0.978;0.991	.|P;P;P;P	.|0.61328	.|0.886;0.887;0.887;0.818	T|T	0.40739|0.40739	-0.9547|-0.9547	5|10	.|0.52906	.|T	.|0.07	-18.9154|-18.9154	12.2153|12.2153	0.54402|0.54402	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	.|.	.|435;435;404;403	.|Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	.|ECT2_HUMAN;.;.;.	V|C	78|404;435;404;403;404;435	.|ENSP00000232458:S404C;ENSP00000376457:S435C;ENSP00000401910:S404C;ENSP00000415876:S403C;ENSP00000412259:S404C;ENSP00000443160:S435C	.|ENSP00000232458:S404C	L|S	+|+	1|2	0|0	ECT2|ECT2	173969503|173969503	.|.	.|.	0.996000|0.996000	0.52242|0.52242	0.803000|0.803000	0.45373|0.45373	.|.	.|.	2.513000|2.513000	0.84729|0.84729	0.655000|0.655000	0.94253|0.94253	CTT|TCT	ECT2	-	superfamily_DH-domain		0.353	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	C	NM_018098		172486809	1	no_errors	ENST00000427830	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172486809	C	G	172486809	3	3	151	1	0	0	0	0	1	0	0	0	4911	913	32	1	1253	1	ECT2	3	172486809	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2301894	172486809	25535621	223	24856										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916881	178916881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgatgaaacaagacgacttTgtgaccttcggctttttcaa	8	8	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:178916881T>C	ENST00000263967.3	+	2	425	c.268T>C	c.(268-270)Tgt>Cgt	p.C90R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	90	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													106	101	103					3																	178916881		1820	4076	5896	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.268T>C	3.37:g.178916881T>C	ENSP00000263967:p.Cys90Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C90R	ENST00000263967.3	37	c.268	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833445	0.71258	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.75367	-0.93;-0.93	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86301	0.5900	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87355	0.2340	9	.	.	.	-21.1026	15.4956	0.75646	0.0:0.0:0.0:1.0	.	90	P42336	PK3CA_HUMAN	R	90	ENSP00000263967:C90R;ENSP00000417479:C90R	.	C	+	1	0	PIK3CA	180399575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.059000	0.61396	0.454000	0.30748	TGT	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	T			178916881	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178916881	T	C	178916881	3	2	151	1	0	0	0	0	1	0	0	0	11937	1812	63	5	270	5	PIK3CA	3	178916881	Missense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	6430072	178916881	19105549	224	24857										
PEX5L	51555	genome.wustl.edu	37	chr3	179576852	179576852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aatttgaagaaaagttacctCcactgctgcttttgcccttt	6	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:179576852C>G	ENST00000467460.1	-	8	1150	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	PEX5L_ENST00000476138.1_Missense_Mutation_p.E231Q|PEX5L_ENST00000263962.8_Missense_Mutation_p.E272Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.E215Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.E166Q|PEX5L_ENST00000465751.1_Missense_Mutation_p.E250Q|PEX5L_ENST00000464614.1_Missense_Mutation_p.E166Q|PEX5L_ENST00000468741.1_Missense_Mutation_p.E82Q|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.E239Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	274					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAAGTTACCTCCACTGCTGCT	0.398																																																	0													141	140	140					3																	179576852		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.820G>C	3.37:g.179576852C>G	ENSP00000419975:p.Glu274Gln		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E274Q	ENST00000467460.1	37	c.820	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947682	0.92593	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.43;-2.38;-2.39;-2.44;-2.45;-2.38;-2.45	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	L	0.58810	1.83	0.80722	D	1	D;D;B;D;D;D	0.89917	0.993;0.998;0.312;1.0;0.999;0.999	D;D;B;D;D;D	0.85130	0.968;0.986;0.103;0.997;0.996;0.994	D	0.93639	0.6963	10	0.72032	D	0.01	-25.3226	18.8213	0.92099	0.0:1.0:0.0:0.0	.	215;250;166;272;239;274	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Q	274;272;239;272;166;82;231;162;215;166;250	ENSP00000419975:E274Q;ENSP00000263962:E272Q;ENSP00000418440:E239Q;ENSP00000376420:E166Q;ENSP00000418665:E82Q;ENSP00000420555:E231Q;ENSP00000418054:E215Q;ENSP00000417270:E166Q;ENSP00000419348:E250Q	ENSP00000263962:E272Q	E	-	1	0	PEX5L	181059546	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.397000	0.73239	2.754000	0.94517	0.558000	0.71614	GAG	PEX5L	-	NULL		0.398	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179576852	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179576852	C	G	179576852	3	3	151	1	0	0	0	0	1	0	0	0	11773	864	30	1	1092	1	PEX5L	3	179576852	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	659971	179576852	18445578	225	24858										
HTR3D	200909	genome.wustl.edu	37	chr3	183756393	183756393	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggaaataagggcccgggtctCacccccacccacctgcccgg	11	18	1	0	rs267599708		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000453435.1_Silent_p.L151L|HTR3D_ENST00000428798.2_Silent_p.L322L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GCCCGGGTCTCACCCCCACCC	0.642																																																	0													24	28	27					3																	183756393		2202	4299	6501	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1116C>T	3.37:g.183756393C>T			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L372	ENST00000382489.3	37	c.1116	CCDS54685.1	3																																																																																			HTR3D	-	superfamily_Neurotrans-gated_channel_TM		0.642	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183756393	1	no_errors	ENST00000382489	ensembl	human	known	70_37	silent	SNP	0.004	T	T	183756393	C	T	183756393	2	4	151	1	0	0	0	0	0	0	0	1	7467	813	29	1		1	HTR3D	3	183756393	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4179541	183756393	14266037	226	24859										
EPHB3	2049	genome.wustl.edu	37	chr3	184298864	184298864	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgggtgcgggaccggaacctCaggcccaaattctcccagat	12	13	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:184298864C>G	ENST00000330394.2	+	14	3095	c.2643C>G	c.(2641-2643)ctC>ctG	p.L881L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACCGGAACCTCAGGCCCAAAT	0.587																																																	0													77	84	81					3																	184298864		2203	4300	6503	SO:0001819	synonymous_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2643C>G	3.37:g.184298864C>G			Q7Z740	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L881	ENST00000330394.2	37	c.2643	CCDS3268.1	3																																																																																			EPHB3	-	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	C	NM_004443		184298864	1	no_errors	ENST00000330394	ensembl	human	known	70_37	silent	SNP	1.000	G	G	184298864	C	G	184298864	2	3	151	1	0	0	0	0	0	0	0	1	5188	813	29	1		1	EPHB3	3	184298864	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	542471	184298864	13723566	227	24860										
TBCCD1	55171	genome.wustl.edu	37	chr3	186274421	186274421	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtaccttcaataaggaagctGagcgccacaacagcttctcg	9	12	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:186274421G>A	ENST00000424280.1	-	4	1115	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000338733.5_Silent_p.L212L|TBCCD1_ENST00000446782.1_Silent_p.L116L	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	212					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TAAGGAAGCTGAGCGCCACAA	0.448																																																	0													85	80	82					3																	186274421		2203	4300	6503	SO:0001819	synonymous_variant	55171			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.636C>T	3.37:g.186274421G>A			B3KW69|D3DNU6|G5E9J4	Silent	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.L212	ENST00000424280.1	37	c.636	CCDS3276.1	3																																																																																			TBCCD1	-	NULL		0.448	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCCD1	HGNC	protein_coding	OTTHUMT00000344774.1	G	NM_018138		186274421	-1	no_errors	ENST00000338733	ensembl	human	known	70_37	silent	SNP	1.000	A	A	186274421	G	A	186274421	2	1	151	1	0	0	0	0	0	0	0	1	15662	1277	45	1		1	TBCCD1	3	186274421	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1975557	186274421	11748009	228	24861										
ST6GAL1	6480	genome.wustl.edu	37	chr3	186793374	186793374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catcatcatgatgacgctgtGtgaccaggtggatatttatg	11	7	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:186793374G>A	ENST00000169298.3	+	8	1678	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.C335Y|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.C104Y	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	335					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ATGACGCTGTGTGACCAGGTG	0.552																																																	0													139	113	122					3																	186793374		2203	4300	6503	SO:0001583	missense	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1004G>A	3.37:g.186793374G>A	ENSP00000169298:p.Cys335Tyr		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.C335Y	ENST00000169298.3	37	c.1004	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943724	0.73672	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044;ENST00000442023	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95386	0.8477	10	0.87932	D	0	-0.9793	17.8009	0.88586	0.0:0.0:1.0:0.0	.	335	P15907	SIAT1_HUMAN	Y	335;104;335;104	ENSP00000169298:C335Y;ENSP00000412221:C104Y;ENSP00000389337:C335Y;ENSP00000403063:C104Y	ENSP00000169298:C335Y	C	+	2	0	ST6GAL1	188276068	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	9.796000	0.99103	2.884000	0.98904	0.655000	0.94253	TGT	ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.552	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	G	NM_173216		186793374	1	no_errors	ENST00000169298	ensembl	human	known	70_37	missense	SNP	1.000	A	A	186793374	G	A	186793374	3	1	151	1	0	0	0	0	1	0	0	0	15251	1377	48	4	1022	4	ST6GAL1	3	186793374	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	518953	186793374	11229056	229	24862										
ACAP2	23527	genome.wustl.edu	37	chr3	195016553	195016553	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgctcaggaggtgataatGatatagaatatttatccaca	9	6	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:195016553G>T	ENST00000326793.6	-	17	1786	c.1556C>A	c.(1555-1557)tCa>tAa	p.S519*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	519	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGGTGATAATGATATAGAATA	0.383																																																	0													88	89	88					3																	195016553		2203	4300	6503	SO:0001587	stop_gained	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1556C>A	3.37:g.195016553G>T	ENSP00000324287:p.Ser519*		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S519*	ENST00000326793.6	37	c.1556	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687609	0.48097	.	.	ENSG00000114331	ENST00000326793	.	.	.	5.79	3.0	0.34707	.	1.088530	0.06948	N	0.814055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	10.2297	0.43247	0.2195:0.0:0.7805:0.0	.	.	.	.	X	519	.	ENSP00000324287:S519X	S	-	2	0	ACAP2	196497842	0.720000	0.27996	0.497000	0.27552	0.921000	0.55340	0.773000	0.26661	0.787000	0.33731	-0.137000	0.14449	TCA	ACAP2	-	smart_ArfGAP,pfscan_ArfGAP		0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	G	NM_012287		195016553	-1	no_errors	ENST00000326793	ensembl	human	known	70_37	nonsense	SNP	0.032	T	T	195016553	G	T	195016553	4	4	151	1	0	0	0	0	0	1	0	0	119	1294	45	3	808	3	ACAP2	3	195016553	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8223179	195016553	3005877	230	24863										
RBPJ	3516	genome.wustl.edu	37	chr4	26417194	26417194	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttgttctgaacaagagtctCaaccgtgtgcatttattggg	11	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:26417194C>T	ENST00000361572.6	+	4	486	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.Q85*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.Q83*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.Q63*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.Q98*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	98					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACAAGAGTCTCAACCGTGTGC	0.418																																																	0													148	154	152					4																	26417194		2203	4300	6503	SO:0001587	stop_gained	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.292C>T	4.37:g.26417194C>T	ENSP00000354528:p.Gln98*		B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT_TIG_rcpt,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.Q98*	ENST00000361572.6	37	c.292	CCDS3437.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.126293	0.94429	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-14.4308	19.4292	0.94758	0.0:1.0:0.0:0.0	.	.	.	.	X	84;121;84;98;83;98;98;85;84;63;84;63;84;63;84;84;84;63	.	ENSP00000345206:Q98X	Q	+	1	0	RBPJ	26026292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.414000	0.80117	2.664000	0.90586	0.650000	0.86243	CAA	RBPJ	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.418	RBPJ-002	KNOWN	basic|CCDS	protein_coding	RBPJ	HGNC	protein_coding	OTTHUMT00000215046.2	C	NM_015874		26417194	1	no_errors	ENST00000342295	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	26417194	C	T	26417194	4	4	151	1	0	0	0	0	0	1	0	0	13191	827	29	1	369	1	RBPJ	4	26417194	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		26417194	164737082	231	24864										
GRXCR1	389207	genome.wustl.edu	37	chr4	43032426	43032426	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttgtggaggctttggctttCttccatgctccgtgtgccat	11	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:43032426C>T	ENST00000399770.2	+	4	742	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	248					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTTGGCTTTCTTCCATGCTC	0.478																																																	0													140	133	136					4																	43032426		1972	4155	6127	SO:0001583	missense	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.742C>T	4.37:g.43032426C>T	ENSP00000382670:p.Leu248Phe			Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.L248F	ENST00000399770.2	37	c.742	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653049	0.29336	.	.	ENSG00000215203	ENST00000399770	T	0.24908	1.83	5.53	4.67	0.58626	.	0.204109	0.33057	U	0.005325	T	0.27134	0.0665	L	0.52905	1.665	0.41553	D	0.98858	B	0.29085	0.232	B	0.25759	0.063	T	0.07693	-1.0759	10	0.87932	D	0	-4.4715	14.6786	0.69001	0.1464:0.8536:0.0:0.0	.	248	A8MXD5	GRCR1_HUMAN	F	248	ENSP00000382670:L248F	ENSP00000382670:L248F	L	+	1	0	GRXCR1	42727183	1.000000	0.71417	0.957000	0.39632	0.291000	0.27294	1.510000	0.35790	1.301000	0.44836	0.579000	0.79373	CTT	GRXCR1	-	superfamily_HSP_DnaJ_Cys-rich_dom		0.478	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	C	NM_001080476		43032426	1	no_errors	ENST00000399770	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43032426	C	T	43032426	3	4	151	1	0	0	0	0	1	0	0	0	6832	913	32	1	756	1	GRXCR1	4	43032426	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	16615232	43032426	148121850	232	24865										
TXK	7294	genome.wustl.edu	37	chr4	48073610	48073610	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatatagcctgaagccttcaGaaatagcttccacgacttgc	8	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:48073610G>C	ENST00000264316.4	-	14	1524	c.1439C>G	c.(1438-1440)tCt>tGt	p.S480C	TXK_ENST00000507351.1_Missense_Mutation_p.S135C	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GAAGCCTTCAGAAATAGCTTC	0.403																																																	0													142	143	143					4																	48073610		2203	4300	6503	SO:0001583	missense	7294			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1439C>G	4.37:g.48073610G>C	ENSP00000264316:p.Ser480Cys		Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S480C	ENST00000264316.4	37	c.1439	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681141	0.47886	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	D;D	0.83250	-1.7;-1.7	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074248	0.56097	D	0.000031	D	0.85483	0.5707	N	0.20483	0.58	0.45930	D	0.998768	D;D	0.76494	0.997;0.999	D;D	0.73380	0.938;0.98	D	0.87377	0.2354	10	0.87932	D	0	.	18.4504	0.90702	0.0:0.0:1.0:0.0	.	167;480	B4DTB5;P42681	.;TXK_HUMAN	C	480;135	ENSP00000264316:S480C;ENSP00000423481:S135C	ENSP00000264316:S480C	S	-	2	0	TXK	47768367	1.000000	0.71417	0.998000	0.56505	0.077000	0.17291	7.208000	0.77907	2.836000	0.97738	0.655000	0.94253	TCT	TXK	-	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,pfscan_Prot_kinase_cat_dom		0.403	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	G	NM_003328		48073610	-1	no_errors	ENST00000264316	ensembl	human	known	70_37	missense	SNP	0.998	C	C	48073610	G	C	48073610	3	2	151	1	0	0	0	0	1	0	0	0	16817	942	33	1	152	1	TXK	4	48073610	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5041184	48073610	143080666	233	24866										
YTHDC1	91746	genome.wustl.edu	37	chr4	69203421	69203421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acgaattttccgatcagcatCtagacgcttgtttctttcag	7	10	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:69203421C>G	ENST00000344157.4	-	3	663	c.328G>C	c.(328-330)Gat>Cat	p.D110H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.D110H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.D110H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	110					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGATCAGCATCTAGACGCTTG	0.378																																																	0													166	159	162					4																	69203421		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.328G>C	4.37:g.69203421C>G	ENSP00000339245:p.Asp110His		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D110H	ENST00000344157.4	37	c.328	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568582	0.65651	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29655	1.88;1.56	4.84	4.84	0.62591	.	0.229658	0.43416	D	0.000578	T	0.41511	0.1162	N	0.19112	0.55	0.58432	D	0.999995	D;B	0.69078	0.997;0.172	D;B	0.66847	0.947;0.243	T	0.42699	-0.9436	10	0.59425	D	0.04	.	18.8339	0.92153	0.0:1.0:0.0:0.0	.	110;110	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	110	ENSP00000339245:D110H;ENSP00000347888:D110H	ENSP00000339245:D110H	D	-	1	0	YTHDC1	68886016	1.000000	0.71417	0.977000	0.42913	0.970000	0.65996	5.465000	0.66725	2.597000	0.87782	0.585000	0.79938	GAT	YTHDC1	-	NULL		0.378	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69203421	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	0.997	G	G	69203421	C	G	69203421	3	3	151	1	0	0	0	0	1	0	0	0	17527	913	32	1	1915	1	YTHDC1	4	69203421	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	21129811	69203421	121950855	234	24867										
UGT2A1	10941	genome.wustl.edu	37	chr4	70460216	70460216	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggttcattaatgactgttCtcaaagcgctaagcaaatcc	7	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:70460216C>T	ENST00000503640.1	-	5	1338	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	UGT2A1_ENST00000512704.1_Missense_Mutation_p.R384K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R594K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R428K|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R437K|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	428					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AATGACTGTTCTCAAAGCGCT	0.373																																																	0													152	135	141					4																	70460216		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1283G>A	4.37:g.70460216C>T	ENSP00000424478:p.Arg428Lys		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R437K	ENST00000503640.1	37	c.1310	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009064	0.07912	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.53	-1.33	0.09172	.	0.339449	0.32901	N	0.005520	T	0.16811	0.0404	N	0.01522	-0.82	.	.	.	B;B;B;B;B	0.27166	0.01;0.17;0.001;0.009;0.001	B;B;B;B;B	0.32090	0.014;0.14;0.004;0.006;0.003	T	0.40079	-0.9582	9	0.02654	T	1	.	5.4437	0.16523	0.0:0.3075:0.1568:0.5357	.	594;594;384;437;428	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	K	437;428;384;594;428	ENSP00000387888:R437K;ENSP00000424478:R428K;ENSP00000421432:R384K;ENSP00000425497:R594K;ENSP00000286604:R428K	ENSP00000286604:R428K	R	-	2	0	UGT2A1	70494805	0.330000	0.24705	0.877000	0.34402	0.958000	0.62258	0.697000	0.25556	-0.204000	0.10235	0.644000	0.83932	AGA	UGT2A1	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.373	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	C	NM_006798		70460216	-1	no_errors	ENST00000457664	ensembl	human	known	70_37	missense	SNP	0.870	T	T	70460216	C	T	70460216	3	4	151	1	0	0	0	0	1	0	0	0	16984	913	32	1	308	1	UGT2A1	4	70460216	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1256795	70460216	120694060	235	24868										
CCNG2	901	genome.wustl.edu	37	chr4	78082672	78082672	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gataaactagaagctcagctGaaagcttgcaactgccgact	9	10	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:78082672G>A	ENST00000316355.5	+	5	923	c.567G>A	c.(565-567)ctG>ctA	p.L189L	CCNG2_ENST00000509972.1_Silent_p.L189L|CCNG2_ENST00000395640.1_Silent_p.L189L|CCNG2_ENST00000354403.5_Silent_p.L189L|CCNG2_ENST00000502280.1_Silent_p.L189L|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	189					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGCTCAGCTGAAAGCTTGCA	0.294																																																	0													51	58	56					4																	78082672		2203	4300	6503	SO:0001819	synonymous_variant	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.567G>A	4.37:g.78082672G>A			B4DF25|Q6FGA7|Q6FGC6	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L189	ENST00000316355.5	37	c.567	CCDS3581.1	4																																																																																			CCNG2	-	NULL		0.294	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG2	HGNC	protein_coding	OTTHUMT00000252404.3	G	NM_004354		78082672	1	no_errors	ENST00000316355	ensembl	human	known	70_37	silent	SNP	0.998	A	A	78082672	G	A	78082672	2	1	151	1	0	0	0	0	0	0	0	1	2929	1277	45	1		1	CCNG2	4	78082672	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7622456	78082672	113071604	236	24869										
FRAS1	80144	genome.wustl.edu	37	chr4	79420976	79420976	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggtgatccgcagaggggatCagaacaggacctccaaggtt	14	9	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:79420976C>T	ENST00000264895.6	+	61	9657	c.9217C>T	c.(9217-9219)Cag>Tag	p.Q3073*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3069	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGAGGGGATCAGAACAGGAC	0.562																																																	0													128	127	127					4																	79420976		1987	4176	6163	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9217C>T	4.37:g.79420976C>T	ENSP00000264895:p.Gln3073*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.Q3073*	ENST00000264895.6	37	c.9217	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.132166|10.132166	0.99343|0.99343	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.223032|.	0.38837|.	N|.	0.001545|.	.|T	.|0.77025	.|0.4070	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74103	.|-0.3773	.|4	0.06365|.	T|.	0.9|.	.|.	20.2983|20.2983	0.98569|0.98569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3073|1301	.|.	ENSP00000264895:Q3073X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79640000|79640000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	5.920000|5.920000	0.70017|0.70017	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	CAG|TCA	FRAS1	-	pfam_Calx_beta,smart_Calx_beta		0.562	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79420976	1	no_errors	ENST00000264895	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	79420976	C	T	79420976	4	4	151	1	0	0	0	0	0	1	0	0	6060	827	29	1	9534	1	FRAS1	4	79420976	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1338304	79420976	111733300	237	24870										
THAP9	79725	genome.wustl.edu	37	chr4	83839307	83839307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggagaccagatacaaatttCaagatgaagtttttctaagc	8	6	2	4	rs372184236		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:83839307C>G	ENST00000302236.5	+	5	1993	c.1942C>G	c.(1942-1944)Caa>Gaa	p.Q648E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	648					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACAAATTTCAAGATGAAGT	0.388																																																	0								C	GLU/GLN	2,4402	4.2+/-10.8	0,2,2200	55	58	57		1942	3	0.5	4		57	0,8598		0,0,4299	no	missense	THAP9	NM_024672.4	29	0,2,6499	GG,GC,CC		0.0,0.0454,0.0154	possibly-damaging	648/904	83839307	2,13000	2202	4299	6501	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1942C>G	4.37:g.83839307C>G	ENSP00000305533:p.Gln648Glu		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q648E	ENST00000302236.5	37	c.1942	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	0.684	-0.797147	0.02862	4.54E-4	0.0	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90197	-2.63	3.87	2.99	0.34606	.	1.336290	0.05084	N	0.484175	T	0.82001	0.4942	N	0.22421	0.69	0.09310	N	0.999999	B	0.22276	0.067	B	0.19391	0.025	T	0.68089	-0.5501	10	0.06625	T	0.88	-0.464	6.7176	0.23312	0.2052:0.5958:0.199:0.0	.	648	Q9H5L6	THAP9_HUMAN	E	648	ENSP00000305533:Q648E	ENSP00000305533:Q648E	Q	+	1	0	THAP9	84058331	0.012000	0.17670	0.515000	0.27774	0.028000	0.11728	1.270000	0.33086	1.165000	0.42670	0.655000	0.94253	CAA	THAP9	-	NULL		0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	C	NM_024672		83839307	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.017	G	G	83839307	C	G	83839307	3	3	151	1	0	0	0	0	1	0	0	0	15881	827	29	1	1960	1	THAP9	4	83839307	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4418331	83839307	107314969	238	24871										
HSD17B13	345275	genome.wustl.edu	37	chr4	88231402	88231402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgctgtacttacttctgtaGtctcagaaagatattgatat	8	6	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:88231402G>A	ENST00000328546.4	-	6	869	c.805C>T	c.(805-807)Cta>Tta	p.L269L	HSD17B13_ENST00000302219.6_Silent_p.L233L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	269						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TACTTCTGTAGTCTCAGAAAG	0.333																																																	0													116	116	116					4																	88231402		2202	4300	6502	SO:0001819	synonymous_variant	345275				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.805C>T	4.37:g.88231402G>A			A8K9R9|Q2M1L5|Q86W22|Q86W23	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L269	ENST00000328546.4	37	c.805	CCDS3618.1	4																																																																																			HSD17B13	-	NULL		0.333	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1	G	NM_178135		88231402	-1	no_errors	ENST00000328546	ensembl	human	known	70_37	silent	SNP	0.000	A	A	88231402	G	A	88231402	2	1	151	1	0	0	0	0	0	0	0	1	7402	1020	36	4		4	HSD17B13	4	88231402	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4392095	88231402	102922874	239	24872										
SPARCL1	8404	genome.wustl.edu	37	chr4	88415459	88415459	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgaataatttctaggttgttCttggttttcctctctctttg	7	7	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:88415459C>G	ENST00000282470.6	-	4	963	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	SPARCL1_ENST00000503414.1_Missense_Mutation_p.E40Q|SPARCL1_ENST00000418378.1_Missense_Mutation_p.E165Q	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	165					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTAGGTTGTTCTTGGTTTTCC	0.393																																																	0													183	178	180					4																	88415459		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.493G>C	4.37:g.88415459C>G	ENSP00000282470:p.Glu165Gln		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E165Q	ENST00000282470.6	37	c.493	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177724	0.38413	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.29142	2.15;2.15;1.58	4.73	2.98	0.34508	.	0.328980	0.28778	N	0.014177	T	0.20618	0.0496	L	0.32530	0.975	0.27783	N	0.943076	D;D	0.53619	0.961;0.961	B;B	0.40636	0.335;0.335	T	0.10613	-1.0622	10	0.62326	D	0.03	-7.9575	7.1536	0.25624	0.0:0.731:0.1731:0.0959	.	165;165	Q8N4S1;Q14515	.;SPRL1_HUMAN	Q	165;165;40;40	ENSP00000282470:E165Q;ENSP00000414856:E165Q;ENSP00000422903:E40Q	ENSP00000282470:E165Q	E	-	1	0	SPARCL1	88634483	0.995000	0.38212	0.536000	0.28039	0.605000	0.37080	1.339000	0.33885	0.670000	0.31165	0.655000	0.94253	GAA	SPARCL1	-	pirsf_SPARC-like_p1		0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415459	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.821	G	G	88415459	C	G	88415459	3	3	151	1	0	0	0	0	1	0	0	0	15026	922	32	1	1533	1	SPARCL1	4	88415459	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	184057	88415459	102738817	240	24873										
MEPE	56955	genome.wustl.edu	37	chr4	88766903	88766903	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caagtgaagctgagagtactCatcttgacacaaaaaagcca	8	9	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:88766903C>T	ENST00000424957.3	+	4	956	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	MEPE_ENST00000540395.1_Missense_Mutation_p.H182Y|MEPE_ENST00000395102.4_Missense_Mutation_p.H326Y|MEPE_ENST00000361056.3_Missense_Mutation_p.H295Y|MEPE_ENST00000560249.1_Missense_Mutation_p.H182Y|MEPE_ENST00000497649.2_Missense_Mutation_p.H271Y|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	295					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGAGAGTACTCATCTTGACAC	0.433																																																	0													57	57	57					4																	88766903		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.883C>T	4.37:g.88766903C>T	ENSP00000416984:p.His295Tyr		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.H295Y	ENST00000424957.3	37	c.883	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168693	0.21621	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.18	-8.24	0.01029	.	2.128630	0.01810	N	0.033395	T	0.24509	0.0594	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.24394	0.053	T	0.27400	-1.0075	10	0.66056	D	0.02	0.3519	9.4584	0.38769	0.1776:0.2548:0.5676:0.0	.	295	Q9NQ76	MEPE_HUMAN	Y	295;326;271;182;295	ENSP00000416984:H295Y;ENSP00000378534:H326Y;ENSP00000422747:H271Y;ENSP00000443491:H182Y;ENSP00000354341:H295Y	ENSP00000354341:H295Y	H	+	1	0	MEPE	88985927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.339000	0.00506	-2.156000	0.00790	-0.976000	0.02587	CAT	MEPE	-	NULL		0.433	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	C			88766903	1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.000	T	T	88766903	C	T	88766903	3	4	151	1	0	0	0	0	1	0	0	0	9501	826	29	1	893	1	MEPE	4	88766903	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	351444	88766903	102387373	241	24874										
HERC6	55008	genome.wustl.edu	37	chr4	89361087	89361087	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctctgtaaaagcagtttatGaggaatttcagagaggattt	10	4	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:89361087G>C	ENST00000264346.7	+	21	2676	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	HERC6_ENST00000380265.5_Missense_Mutation_p.E837Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	873	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGCAGTTTATGAGGAATTTCA	0.318																																																	0													41	39	40					4																	89361087		1847	4115	5962	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2617G>C	4.37:g.89361087G>C	ENSP00000264346:p.Glu873Gln		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E873Q	ENST00000264346.7	37	c.2617	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672803	0.67928	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.48522	0.81;0.81	4.76	3.0	0.34707	HECT (4);	0.301586	0.26883	N	0.022019	T	0.61073	0.2318	M	0.69523	2.12	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.59643	-0.7416	10	0.46703	T	0.11	.	9.3975	0.38412	0.0813:0.1455:0.7731:0.0	.	837;873	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	837;873	ENSP00000369617:E837Q;ENSP00000264346:E873Q	ENSP00000264346:E873Q	E	+	1	0	HERC6	89580110	0.962000	0.33011	0.995000	0.50966	0.987000	0.75469	0.452000	0.21795	0.709000	0.31976	0.585000	0.79938	GAG	HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.318	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	G			89361087	1	no_errors	ENST00000264346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89361087	G	C	89361087	3	2	151	1	0	0	0	0	1	0	0	0	7082	1291	45	1	2496	1	HERC6	4	89361087	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	594184	89361087	101793189	242	24875										
FAM190A	401145	genome.wustl.edu	37	chr4	91701592	91701592	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttatttttattgtttttacaGaccacataccctagggaatt	5	7	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:91701592G>C	ENST00000509176.1	+	8	2298				CCSER1_ENST00000432775.2_Splice_Site|CCSER1_ENST00000504150.1_Splice_Site|CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		TGTTTTTACAGACCACATACC	0.338																																																	0													51	48	49					4																	91701592		1819	4076	5895	SO:0001627	intron_variant	401145				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2011-35321G>C	4.37:g.91701592G>C			Q4W5M0|Q86V57	Splice_Site	SNP	-	e7-1	ENST00000509176.1	37	c.2011-1	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	3.546	-0.092690	0.07053	.	.	ENSG00000184305	ENST00000432775	.	.	.	2.52	0.734	0.18294	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5236	0.11971	0.3281:0.0:0.6719:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM190A	91920615	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.199000	0.17237	0.158000	0.19367	0.585000	0.79938	.	FAM190A	-	-		0.338	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190A	HGNC	protein_coding	OTTHUMT00000363109.3	G	NM_001145065		91701592	1	no_errors	ENST00000432775	ensembl	human	known	70_37	splice_site	SNP	0.000	C	C	91701592	G	C	91701592	1	2	151	0	1	0	0	0	0	0	0	0	5536	956	33	1		1	FAM190A	4	91701592	Intron	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2340505	91701592	99452684	243	24876										
C4orf37	285555	genome.wustl.edu	37	chr4	98761974	98761974	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggagttgcactaagaaaaGaggcatgttttcttttagcc	11	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:98761974G>A	ENST00000295268.3	-	9	1243	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	385																	ACTAAGAAAAGAGGCATGTTT	0.403																																																	0													109	114	112					4																	98761974		2203	4300	6503	SO:0001583	missense	285555			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1154C>T	4.37:g.98761974G>A	ENSP00000295268:p.Ser385Phe			Missense_Mutation	SNP	NULL	p.S385F	ENST00000295268.3	37	c.1154	CCDS3645.1	4	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561926	0.65538	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.52057	0.68;2.65	5.47	4.61	0.57282	.	0.096296	0.44688	D	0.000438	T	0.65719	0.2718	M	0.64997	1.995	0.33700	D	0.61443	D	0.89917	1.0	D	0.79108	0.992	T	0.77512	-0.2560	10	0.72032	D	0.01	-6.8542	15.0653	0.71989	0.0:0.143:0.857:0.0	.	385	Q8N412	CD037_HUMAN	F	99;385	ENSP00000428346:S99F;ENSP00000295268:S385F	ENSP00000295268:S385F	S	-	2	0	C4orf37	98980997	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	3.696000	0.54757	1.276000	0.44395	0.585000	0.79938	TCT	STPG2	-	NULL		0.403	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	HGNC	protein_coding	OTTHUMT00000253642.1	G	NM_174952		98761974	-1	no_errors	ENST00000295268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98761974	G	A	98761974	3	1	151	1	0	0	0	0	1	0	0	0	2272	942	33	1	237	1	C4orf37	4	98761974	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7060382	98761974	92392302	244	24877										
SYNPO2	171024	genome.wustl.edu	37	chr4	119958343	119958343	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctacctttcttcctctacctGataatgataatactcaaaat	2	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:119958343G>A	ENST00000429713.2	+	0	7242				SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Intron|SYNPO2_ENST00000434046.2_Silent_p.*1110*	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2							actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTCTACCTGATAATGATAA	0.368																																																	0													168	134	145					4																	119958343		692	1591	2283	SO:0001628	intergenic_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165		4.37:g.119958343G>A			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.*1110	ENST00000429713.2	37	c.3329	CCDS47129.1	4																																																																																			SYNPO2	-	NULL		0.368	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	G			119958343	1	no_errors	ENST00000434046	ensembl	human	known	70_37	silent	SNP	0.001	A	A	119958343	G	A	119958343	1	1	151	0	1	0	0	0	0	0	0	0	15487	1285	45	1		1	SYNPO2	4	119958343	IGR	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	21196369	119958343	71195933	245	24878										
FAT4	79633	genome.wustl.edu	37	chr4	126411501	126411501	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgtgggctgtgcctgccatCgtgggcagctgcgcaaccgt	15	12	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:126411501C>T	ENST00000394329.3	+	17	13537	c.13524C>T	c.(13522-13524)atC>atT	p.I4508I	FAT4_ENST00000335110.5_Silent_p.I2749I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4508					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCCTGCCATCGTGGGCAGCT	0.577																																																	0													68	68	68					4																	126411501		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13524C>T	4.37:g.126411501C>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I4508	ENST00000394329.3	37	c.13524	CCDS3732.3	4																																																																																			FAT4	-	NULL		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126411501	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.990	T	T	126411501	C	T	126411501	2	4	151	1	0	0	0	0	0	0	0	1	5710	874	31	1		1	FAT4	4	126411501	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6453158	126411501	64742775	246	24879										
NAA15	80155	genome.wustl.edu	37	chr4	140272765	140272765	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttatacaaagacaaagaaaaGgtaaagtgaaatatgatact	7	3	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:140272765G>C	ENST00000296543.5	+	9	1337	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Splice_Site_p.K338N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	338					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACAAAGAAAAGGTAAAGTGAA	0.333																																																	0													78	77	77					4																	140272765		1824	4074	5898	SO:0001630	splice_region_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1014+1G>C	4.37:g.140272765G>C			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K338N	ENST00000296543.5	37	c.1014	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099560	0.76983	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.69435	-0.4;-0.4	5.93	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.87456	2.885	0.80722	D	1	D	0.64830	0.994	D	0.67382	0.951	D	0.86144	0.1583	10	0.62326	D	0.03	-16.2219	15.2962	0.73910	0.0671:0.0:0.9329:0.0	.	338	Q9BXJ9	NAA15_HUMAN	N	338;212;338	ENSP00000296543:K338N;ENSP00000381920:K338N	ENSP00000296543:K338N	K	+	3	2	NAA15	140492215	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.359000	0.97115	1.517000	0.48917	-0.300000	0.09419	AAG	NAA15	-	pirsf_NatA_aux_su		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175	Missense_Mutation	140272765	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140272765	G	C	140272765	5	2	151	1	0	0	0	0	0	0	1	0	10141	1014	35	4	1048	4	NAA15	4	140272765	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	13861264	140272765	50881511	247	24880										
NAA15	80155	genome.wustl.edu	37	chr4	140297522	140297522	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcttttatttttgttaggttGaaactccattggaagaagct	8	5	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:140297522G>A	ENST00000296543.5	+	16	2274	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	NAA15_ENST00000398947.1_Missense_Mutation_p.E651K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	651	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGTTAGGTTGAAACTCCATT	0.269																																																	0													71	67	69					4																	140297522		1792	4058	5850	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1951G>A	4.37:g.140297522G>A	ENSP00000296543:p.Glu651Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E651K	ENST00000296543.5	37	c.1951	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.231739	0.95207	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.43688	0.94;0.94	5.63	5.63	0.86233	.	0.052470	0.64402	D	0.000001	T	0.47002	0.1422	L	0.35249	1.045	0.80722	D	1	B	0.26577	0.153	B	0.43536	0.423	T	0.31251	-0.9950	10	0.21014	T	0.42	-17.8006	19.6818	0.95967	0.0:0.0:1.0:0.0	.	651	Q9BXJ9	NAA15_HUMAN	K	651;525;651	ENSP00000296543:E651K;ENSP00000381920:E651K	ENSP00000296543:E651K	E	+	1	0	NAA15	140516972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.641000	0.89580	0.591000	0.81541	GAA	NAA15	-	pfam_NatA_aux_su,pirsf_NatA_aux_su		0.269	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140297522	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140297522	G	A	140297522	3	1	151	1	0	0	0	0	1	0	0	0	10141	1291	45	1	2013	1	NAA15	4	140297522	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	24757	140297522	50856754	248	24881										
NAA15	80155	genome.wustl.edu	37	chr4	140297537	140297537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggttgaaactccattggaaGaagctattaaatttttaaca	7	5	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:140297537G>A	ENST00000296543.5	+	16	2289	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	NAA15_ENST00000398947.1_Missense_Mutation_p.E656K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	656	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.E656*(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATTGGAAGAAGCTATTAA	0.294																																																	1	Substitution - Nonsense(1)	large_intestine(1)											85	80	81					4																	140297537		1797	4064	5861	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1966G>A	4.37:g.140297537G>A	ENSP00000296543:p.Glu656Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E656K	ENST00000296543.5	37	c.1966	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006771	0.74932	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.51071	0.72;0.72	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.59247	-0.7490	10	0.28530	T	0.3	-17.8006	19.6622	0.95877	0.0:0.0:1.0:0.0	.	656	Q9BXJ9	NAA15_HUMAN	K	656;530;656	ENSP00000296543:E656K;ENSP00000381920:E656K	ENSP00000296543:E656K	E	+	1	0	NAA15	140516987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.637000	0.89404	0.585000	0.79938	GAA	NAA15	-	pfam_NatA_aux_su,pirsf_NatA_aux_su		0.294	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140297537	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140297537	G	A	140297537	3	1	151	1	0	0	0	0	1	0	0	0	10141	943	33	1	2028	1	NAA15	4	140297537	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	15	140297537	50856739	249	24882										
SMAD1	4086	genome.wustl.edu	37	chr4	146436153	146436153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atccctaccactataagagaGtagaaagccctggtaagtga	9	9	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:146436153G>T	ENST00000515385.1	+	2	930	c.388G>T	c.(388-390)Gta>Tta	p.V130L	SMAD1_ENST00000302085.4_Missense_Mutation_p.V130L|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000394092.2_Missense_Mutation_p.V130L			Q15797	SMAD1_HUMAN	SMAD family member 1	130	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTATAAGAGAGTAGAAAGCCC	0.413																																					Pancreas(182;1287 2092 10326 35158 50562)												0													180	183	182					4																	146436153		2203	4300	6503	SO:0001583	missense	4086			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.388G>T	4.37:g.146436153G>T	ENSP00000426568:p.Val130Leu		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.V130L	ENST00000515385.1	37	c.388	CCDS3765.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733419	0.89482	.	.	ENSG00000170365	ENST00000302085;ENST00000512019;ENST00000394092;ENST00000515385	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.3	5.3	0.74995	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	L	0.45422	1.42	0.80722	D	1	B;P	0.50617	0.027;0.937	B;P	0.55345	0.017;0.774	T	0.79408	-0.1816	9	.	.	.	.	19.3243	0.94254	0.0:0.0:1.0:0.0	.	130;130	D6RD62;Q15797	.;SMAD1_HUMAN	L	130	ENSP00000305769:V130L;ENSP00000427002:V130L;ENSP00000377652:V130L;ENSP00000426568:V130L	.	V	+	1	0	SMAD1	146655603	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	GTA	SMAD1	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.413	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	G	NM_005900		146436153	1	no_errors	ENST00000302085	ensembl	human	known	70_37	missense	SNP	1.000	T	T	146436153	G	T	146436153	3	4	151	1	0	0	0	0	1	0	0	0	14787	1029	36	4	390	4	SMAD1	4	146436153	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6138616	146436153	44718123	250	24883										
EDNRA	1909	genome.wustl.edu	37	chr4	148463720	148463720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccagtggaagaaccacgatCaaaacaaccacaacacagac	6	13	1	2	rs199902852		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:148463720C>G	ENST00000324300.5	+	8	1749	c.1234C>G	c.(1234-1236)Caa>Gaa	p.Q412E	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.Q303E|EDNRA_ENST00000511804.1_Missense_Mutation_p.Q187E|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.Q303E	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	412					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GAACCACGATCAAAACAACCA	0.517																																																	0													189	185	186					4																	148463720		2203	4300	6503	SO:0001583	missense	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1234C>G	4.37:g.148463720C>G	ENSP00000315011:p.Gln412Glu		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.Q412E	ENST00000324300.5	37	c.1234	CCDS3769.1	4	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112053	0.37242	.	.	ENSG00000151617	ENST00000358556;ENST00000324300;ENST00000511804;ENST00000506066	T;T;T;T	0.73789	0.44;-0.78;0.82;0.44	5.27	4.43	0.53597	.	0.114707	0.64402	D	0.000011	T	0.60779	0.2295	L	0.38175	1.15	0.80722	D	1	P;B	0.38597	0.639;0.0	B;B	0.34301	0.179;0.0	T	0.57447	-0.7810	10	0.27082	T	0.32	-11.0068	10.589	0.45298	0.1327:0.7961:0.0:0.0712	.	303;412	P25101-4;P25101	.;EDNRA_HUMAN	E	303;412;187;303	ENSP00000351359:Q303E;ENSP00000315011:Q412E;ENSP00000425354:Q187E;ENSP00000425281:Q303E	ENSP00000315011:Q412E	Q	+	1	0	EDNRA	148683170	1.000000	0.71417	0.838000	0.33150	0.942000	0.58702	5.368000	0.66133	1.201000	0.43203	0.591000	0.81541	CAA	EDNRA	-	prints_ETA_rcpt		0.517	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	C			148463720	1	no_errors	ENST00000324300	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148463720	C	G	148463720	3	3	151	1	0	0	0	0	1	0	0	0	4929	827	29	1	1260	1	EDNRA	4	148463720	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2027567	148463720	42690556	251	24884										
PRMT10	90826	genome.wustl.edu	37	chr4	148605133	148605133	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgggacctgggccgcgagttCgacatggcagtcaccacttg	14	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:148605133C>T	ENST00000322396.6	-	1	248	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		2						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GCCGCGAGTTCGACATGGCAG	0.597																																																	0													14	16	15					4																	148605133		2197	4277	6474	SO:0001819	synonymous_variant	90826																														ENST00000322396.6:c.6G>A	4.37:g.148605133C>T			A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S2	ENST00000322396.6	37	c.6	CCDS3771.1	4																																																																																			PRMT10	-	NULL		0.597	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	C			148605133	-1	no_errors	ENST00000322396	ensembl	human	known	70_37	silent	SNP	0.714	T	T	148605133	C	T	148605133	2	4	151	1	0	0	0	0	0	0	0	1	12563	871	31	1		1	PRMT10	4	148605133	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	141413	148605133	42549143	252	24885										
PPID	5481	genome.wustl.edu	37	chr4	159631994	159631994	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtatttgatgggtctagttCaagagcctacaaaaaagtat	10	5	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:159631994C>G	ENST00000307720.3	-	8	1008	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	301	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GGGTCTAGTTCAAGAGCCTAC	0.348																																																	0													114	123	120					4																	159631994		2202	4300	6502	SO:0001583	missense	5481				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.901G>C	4.37:g.159631994C>G	ENSP00000303754:p.Glu301Gln		B2R9V2	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E301Q	ENST00000307720.3	37	c.901	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290779	0.40494	.	.	ENSG00000171497	ENST00000307720	T	0.60299	0.2	5.44	4.6	0.57074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.379293	0.18688	N	0.133958	T	0.46870	0.1415	L	0.41027	1.25	0.43919	D	0.996565	B	0.25169	0.119	B	0.26517	0.07	T	0.39742	-0.9599	10	0.33141	T	0.24	-40.7041	9.2589	0.37601	0.0:0.7403:0.1226:0.1371	.	301	Q08752	PPID_HUMAN	Q	301	ENSP00000303754:E301Q	ENSP00000303754:E301Q	E	-	1	0	PPID	159851444	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.500000	0.45381	1.633000	0.50488	0.650000	0.86243	GAA	PPID	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	C	NM_005038		159631994	-1	no_errors	ENST00000307720	ensembl	human	known	70_37	missense	SNP	1.000	G	G	159631994	C	G	159631994	3	3	151	1	0	0	0	0	1	0	0	0	12348	835	29	1	223	1	PPID	4	159631994	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	11026861	159631994	31522282	253	24886										
NAF1	92345	genome.wustl.edu	37	chr4	164085493	164085493	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagaggaagaagacgacgatGaggaagatgaagaggaagac	16	3	0	8			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:164085493G>A	ENST00000274054.2	-	2	609	c.416C>T	c.(415-417)tCa>tTa	p.S139L	NAF1_ENST00000422287.2_Missense_Mutation_p.S139L	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	139	Ser-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				agacgacgatgaggaagatga	0.343																																																	0													70	72	71					4																	164085493		2202	4300	6502	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.416C>T	4.37:g.164085493G>A	ENSP00000274054:p.Ser139Leu		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.S139L	ENST00000274054.2	37	c.416	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693088	0.48202	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.47177	1.27;0.85	4.42	4.42	0.53409	.	0.168657	0.39687	N	0.001290	T	0.40886	0.1135	N	0.08118	0	0.40078	D	0.976092	P;P	0.51653	0.947;0.909	P;P	0.55965	0.788;0.587	T	0.39396	-0.9616	10	0.35671	T	0.21	-8.7233	13.2352	0.59965	0.0:0.0:1.0:0.0	.	139;139	E9PAZ2;Q96HR8	.;NAF1_HUMAN	L	139	ENSP00000408963:S139L;ENSP00000274054:S139L	ENSP00000274054:S139L	S	-	2	0	NAF1	164304943	0.996000	0.38824	0.503000	0.27626	0.109000	0.19521	3.130000	0.50508	2.395000	0.81488	0.467000	0.42956	TCA	NAF1	-	NULL		0.343	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	G	NM_138386		164085493	-1	no_errors	ENST00000274054	ensembl	human	known	70_37	missense	SNP	0.996	A	A	164085493	G	A	164085493	3	1	151	1	0	0	0	0	1	0	0	0	10163	1294	45	1	1237	1	NAF1	4	164085493	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4453499	164085493	27068783	254	24887										
TKTL2	84076	genome.wustl.edu	37	chr4	164394281	164394281	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcttcacagcaattctggtaGatgtctgcgccatgctcaag	10	11	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:164394281G>A	ENST00000280605.3	-	1	766	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	202						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AATTCTGGTAGATGTCTGCGC	0.517																																																	0													74	74	74					4																	164394281		2203	4300	6503	SO:0001819	synonymous_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.606C>T	4.37:g.164394281G>A			A4FVB4|Q8NCT0|Q96M82	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.I202	ENST00000280605.3	37	c.606	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase_N,pfam_DH_E1		0.517	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	G	NM_032136		164394281	-1	no_errors	ENST00000280605	ensembl	human	known	70_37	silent	SNP	0.007	A	A	164394281	G	A	164394281	2	1	151	1	0	0	0	0	0	0	0	1	15966	932	33	1		1	TKTL2	4	164394281	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	308788	164394281	26759995	255	24888										
SNX25	83891	genome.wustl.edu	37	chr4	186244913	186244913	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aattgttgataaaagaggaaGaaaaacatgcctcacagatg	9	5	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:186244913G>C	ENST00000504273.1	+	9	1510	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E406Q			Q9H3E2	SNX25_HUMAN	sorting nexin 25	406					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAAGAGGAAGAAAAACATGC	0.343																																																	0													56	53	54					4																	186244913		2203	4298	6501	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1216G>C	4.37:g.186244913G>C	ENSP00000426255:p.Glu406Gln		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E406Q	ENST00000504273.1	37	c.1216	CCDS34116.1	4	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281321	0.23392	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10192	2.9;2.9	5.81	5.81	0.92471	.	0.301215	0.37437	N	0.002093	T	0.10852	0.0265	L	0.38175	1.15	0.33161	D	0.547043	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.12344	-1.0551	10	0.15499	T	0.54	-5.7141	18.2539	0.90012	0.0:0.0:1.0:0.0	.	177;406	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	Q	406	ENSP00000426255:E406Q;ENSP00000264694:E406Q	ENSP00000264694:E406Q	E	+	1	0	SNX25	186481907	1.000000	0.71417	0.336000	0.25522	0.754000	0.42855	4.315000	0.59172	2.751000	0.94390	0.555000	0.69702	GAA	SNX25	-	NULL		0.343	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	G	NM_031953		186244913	1	no_errors	ENST00000264694	ensembl	human	known	70_37	missense	SNP	0.957	C	C	186244913	G	C	186244913	3	2	151	1	0	0	0	0	1	0	0	0	14926	943	33	1	1246	1	SNX25	4	186244913	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	21850632	186244913	4909363	256	24889										
NSUN2	54888	genome.wustl.edu	37	chr5	6632822	6632822	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctcctggtagtagtgctcGaacagcttgttctccttgac	10	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:6632822G>A	ENST00000264670.6	-	2	455	c.144C>T	c.(142-144)ttC>ttT	p.F48F	NSUN2_ENST00000506139.1_Silent_p.F48F|SRD5A1_ENST00000538824.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank|SRD5A1_ENST00000537411.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	48					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGTAGTGCTCGAACAGCTTGT	0.617																																																	0													69	71	70					5																	6632822		2203	4300	6503	SO:0001819	synonymous_variant	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.144C>T	5.37:g.6632822G>A			A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1	p.F48	ENST00000264670.6	37	c.144	CCDS3869.1	5																																																																																			NSUN2	-	NULL		0.617	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSUN2	HGNC	protein_coding	OTTHUMT00000206902.1	G	NM_017755		6632822	-1	no_errors	ENST00000264670	ensembl	human	known	70_37	silent	SNP	0.999	A	A	6632822	G	A	6632822	2	1	151	1	0	0	0	0	0	0	0	1	10702	1049	37	1		1	NSUN2	5	6632822	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		6632822	174282438	257	24890										
MYO10	4651	genome.wustl.edu	37	chr5	16711116	16711116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaggcagagccagattcctCatcagcactttatacctgca	7	13	3	2	rs376331087		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:16711116C>G	ENST00000513610.1	-	21	2524	c.2070G>C	c.(2068-2070)atG>atC	p.M690I	MYO10_ENST00000274203.9_Missense_Mutation_p.M47I|MYO10_ENST00000515803.1_Missense_Mutation_p.M29I|MYO10_ENST00000427430.2_Missense_Mutation_p.M47I|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000505695.1_Missense_Mutation_p.M29I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	690	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGATTCCTCATCAGCACTT	0.532																																																	0													47	48	48					5																	16711116		2048	4201	6249	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2070G>C	5.37:g.16711116C>G	ENSP00000421280:p.Met690Ile		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.M690I	ENST00000513610.1	37	c.2070	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805141	0.31961	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	T;D;D;D;D;T	0.95035	-0.53;-3.59;-3.59;-3.59;-3.59;-0.53	5.26	5.26	0.73747	Myosin head, motor domain (2);	.	.	.	.	D	0.91348	0.7271	L	0.39692	1.235	0.58432	D	0.999998	B;B	0.24317	0.101;0.001	B;B	0.21917	0.037;0.005	D	0.88033	0.2776	9	0.18276	T	0.48	.	18.8714	0.92317	0.0:1.0:0.0:0.0	.	331;690	Q69YP8;Q9HD67	.;MYO10_HUMAN	I	690;29;47;29;47;701	ENSP00000421280:M690I;ENSP00000425051:M29I;ENSP00000274203:M47I;ENSP00000421170:M29I;ENSP00000391106:M47I;ENSP00000421309:M701I	ENSP00000274203:M47I	M	-	3	0	MYO10	16764116	1.000000	0.71417	0.930000	0.37139	0.759000	0.43091	5.920000	0.70017	2.447000	0.82792	0.462000	0.41574	ATG	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16711116	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16711116	C	G	16711116	3	3	151	1	0	0	0	0	1	0	0	0	10085	826	29	1	4190	1	MYO10	5	16711116	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10078294	16711116	164204144	258	24891										
NIPBL	25836	genome.wustl.edu	37	chr5	36985280	36985280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaatgcaaacaaaacgagagCaccatagttgagcctaaaca	8	9	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:36985280C>T	ENST00000282516.8	+	10	2497	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	NIPBL_ENST00000448238.2_Silent_p.S666S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	666					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAACGAGAGCACCATAGTTG	0.343																																																	0													96	95	95					5																	36985280		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1998C>T	5.37:g.36985280C>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.S666	ENST00000282516.8	37	c.1998	CCDS3920.1	5																																																																																			NIPBL	-	NULL		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		36985280	1	no_errors	ENST00000282516	ensembl	human	known	70_37	silent	SNP	0.657	T	T	36985280	C	T	36985280	2	4	151	1	0	0	0	0	0	0	0	1	10452	709	25	4		4	NIPBL	5	36985280	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	20274164	36985280	143929980	259	24892										
NUP155	9631	genome.wustl.edu	37	chr5	37302895	37302895	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acttacctccattttttcttCtaattcatgaagaaattcac	2	10	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:37302895C>G	ENST00000231498.3	-	29	3636	c.3433G>C	c.(3433-3435)Gaa>Caa	p.E1145Q	NUP155_ENST00000513532.1_Missense_Mutation_p.E1081Q|NUP155_ENST00000381843.2_Missense_Mutation_p.E1086Q|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1145					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTTTTCTTCTAATTCATGA	0.403																																																	0													136	141	139					5																	37302895		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3433G>C	5.37:g.37302895C>G	ENSP00000231498:p.Glu1145Gln		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.E1145Q	ENST00000231498.3	37	c.3433	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.112355	0.94339	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.80214	-1.35;-1.33;-1.31	5.62	5.62	0.85841	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.971	D	0.86476	0.1788	10	0.35671	T	0.21	.	19.6559	0.95842	0.0:1.0:0.0:0.0	.	1081;1145	E9PF10;O75694	.;NU155_HUMAN	Q	1145;1086;1107;1081	ENSP00000231498:E1145Q;ENSP00000371265:E1086Q;ENSP00000422019:E1081Q	ENSP00000231498:E1145Q	E	-	1	0	NUP155	37338652	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.487000	0.81328	2.652000	0.90054	0.591000	0.81541	GAA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C		0.403	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37302895	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37302895	C	G	37302895	3	3	151	1	0	0	0	0	1	0	0	0	10780	922	32	1	770	1	NUP155	5	37302895	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	317615	37302895	143612365	260	24893										
PTGER4	5734	genome.wustl.edu	37	chr5	40681884	40681884	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgccggagcttccgccgcatCgcgggcgccgagatccagat	14	16	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:40681884C>T	ENST00000302472.3	+	2	1813	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCCGCCGCATCGCGGGCGCCG	0.721																																																	0													18	21	20					5																	40681884		2104	4036	6140	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.789C>T	5.37:g.40681884C>T			Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I263	ENST00000302472.3	37	c.789	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.721	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681884	1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.845	T	T	40681884	C	T	40681884	2	4	151	1	0	0	0	0	0	0	0	1	12773	874	31	1		1	PTGER4	5	40681884	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3378989	40681884	140233376	261	24894										
MGC42105	167359	genome.wustl.edu	37	chr5	43277278	43277278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccaacatcatccgcctttacGaagtggtggagaccctatcc	8	14	1	1	rs534141752		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:43277278G>A	ENST00000512796.1	+	3	1911	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	NIM1_ENST00000326035.2_Missense_Mutation_p.E138K			Q8IY84	NIM1_HUMAN		138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E138K(1)									CCGCCTTTACGAAGTGGTGGA	0.522													G|||	1	0.000199681	0	0	5008	,	,		20242	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	breast(1)											101	97	98					5																	43277278		2203	4300	6503	SO:0001583	missense	167359																														ENST00000512796.1:c.412G>A	5.37:g.43277278G>A	ENSP00000420849:p.Glu138Lys		B3KVM1	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.E138K	ENST00000512796.1	37	c.412	CCDS3943.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.516068	0.96402	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.26223	1.75;1.75	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54344	-0.8308	10	0.72032	D	0.01	.	19.6629	0.95879	0.0:0.0:1.0:0.0	.	138	Q8IY84	NIM1_HUMAN	K	138	ENSP00000313572:E138K;ENSP00000420849:E138K	ENSP00000313572:E138K	E	+	1	0	AC114947.1	43313035	1.000000	0.71417	0.813000	0.32504	0.775000	0.43874	9.827000	0.99397	2.654000	0.90174	0.555000	0.69702	GAA	NIM1	-	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		0.522	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NIM1	Uniprot_genename	protein_coding	OTTHUMT00000368017.1	G			43277278	1	no_errors	ENST00000326035	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43277278	G	A	43277278	3	1	151	1	0	0	0	0	1	0	0	0	9575	1059	37	1	418	1	MGC42105	5	43277278	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2595394	43277278	137637982	262	24895										
CDC20B	166979	genome.wustl.edu	37	chr5	54420851	54420851	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gataaacacgccccagtcttGacccactgcgagtttacata	7	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:54420851G>C	ENST00000381375.2	-	9	1140	c.995C>G	c.(994-996)tCa>tGa	p.S332*	CDC20B_ENST00000322374.6_Nonsense_Mutation_p.S332*|CDC20B_ENST00000296733.1_Nonsense_Mutation_p.S332*|CDC20B_ENST00000334206.5_Missense_Mutation_p.Q361E			Q86Y33	CD20B_HUMAN	cell division cycle 20B	332										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCCAGTCTTGACCCACTGCG	0.438																																																	0													72	64	67					5																	54420851		2203	4300	6503	SO:0001587	stop_gained	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.995C>G	5.37:g.54420851G>C	ENSP00000370781:p.Ser332*		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S332*	ENST00000381375.2	37	c.995	CCDS54852.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.596528|4.596528	0.86953|0.86953	.|.	.|.	ENSG00000164287|ENSG00000164287	ENST00000334206|ENST00000296733;ENST00000381375;ENST00000322374	T|.	0.11385|.	2.78|.	4.66|4.66	3.79|3.79	0.43588|0.43588	.|.	.|0.000000	.|0.36444	.|N	.|0.002588	T|.	0.72087|.	0.3417|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.32467|.	0.372|.	B|.	0.27796|.	0.083|.	T|.	0.75516|.	-0.3290|.	8|.	0.10636|0.87932	T|D	0.68|0	-27.7667|-27.7667	12.4256|12.4256	0.55544|0.55544	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	361|.	Q86Y33-4|.	.|.	E|X	361|332	ENSP00000335664:Q361E|.	ENSP00000335664:Q361E|ENSP00000296733:S332X	Q|S	-|-	1|2	0|0	CDC20B|CDC20B	54456608|54456608	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.322000|0.322000	0.28314|0.28314	4.814000|4.814000	0.62627|0.62627	1.165000|1.165000	0.42670|0.42670	0.650000|0.650000	0.86243|0.86243	CAA|TCA	CDC20B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.438	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CDC20B	HGNC	protein_coding	OTTHUMT00000369715.1	G	NM_152623		54420851	-1	no_errors	ENST00000296733	ensembl	human	known	70_37	nonsense	SNP	0.995	C	C	54420851	G	C	54420851	4	2	151	1	0	0	0	0	0	1	0	0	3065	1294	45	1	580	1	CDC20B	5	54420851	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11143573	54420851	126494409	263	24896										
DHX29	54505	genome.wustl.edu	37	chr5	54581210	54581210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taagattgtagggcatactaCcaggacatcatcttcagact	8	9	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:54581210C>T	ENST00000251636.5	-	10	1415	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	423						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGGCATACTACCAGGACATCA	0.383																																																	0													72	64	67					5																	54581210		2203	4300	6503	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1267G>A	5.37:g.54581210C>T	ENSP00000251636:p.Val423Ile		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V423I	ENST00000251636.5	37	c.1267	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429116	0.25726	.	.	ENSG00000067248	ENST00000251636	T	0.03330	3.97	5.46	4.59	0.56863	.	0.299751	0.37012	N	0.002288	T	0.02047	0.0064	N	0.14661	0.345	0.27562	N	0.950145	B	0.34015	0.435	B	0.24974	0.057	T	0.45396	-0.9264	10	0.28530	T	0.3	.	6.7539	0.23501	0.1442:0.7049:0.0:0.1508	.	423	Q7Z478	DHX29_HUMAN	I	423	ENSP00000251636:V423I	ENSP00000251636:V423I	V	-	1	0	DHX29	54616967	0.993000	0.37304	0.917000	0.36280	0.541000	0.35023	2.018000	0.40991	1.450000	0.47717	0.655000	0.94253	GTA	DHX29	-	NULL		0.383	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54581210	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	missense	SNP	0.967	T	T	54581210	C	T	54581210	3	4	151	1	0	0	0	0	1	0	0	0	4513	507	18	4	2914	4	DHX29	5	54581210	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	160359	54581210	126334050	264	24897										
ERBB2IP	55914	genome.wustl.edu	37	chr5	65307894	65307894	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taggaatacaggagtttccaGaaaatataaaaaattgtaaa	7	3	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:65307894G>A	ENST00000284037.5	+	5	714	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E109K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	109					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGAGTTTCCAGAAAATATAAA	0.289																																																	0													34	39	37					5																	65307894		2195	4276	6471	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.325G>A	5.37:g.65307894G>A	ENSP00000284037:p.Glu109Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E109K	ENST00000284037.5	37	c.325	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.230835	0.95207	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.35789	1.84;1.84;1.84;1.84;1.84;1.84;1.29;1.84;1.84;1.84	5.74	5.74	0.90152	.	0.044020	0.85682	D	0.000000	T	0.46268	0.1384	N	0.12920	0.275	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.987;0.998;0.967;0.999;0.998;0.999;1.0;0.995	D;D;P;D;D;D;D;P	0.87578	0.971;0.948;0.874;0.998;0.951;0.996;0.971;0.889	T	0.52631	-0.8550	10	0.72032	D	0.01	.	18.7065	0.91640	0.0:0.0:1.0:0.0	.	109;109;109;109;109;109;109;109	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	K	109	ENSP00000284037:E109K;ENSP00000370330:E109K;ENSP00000397833:E109K;ENSP00000370326:E109K;ENSP00000370323:E109K;ENSP00000370322:E109K;ENSP00000370325:E109K;ENSP00000422766:E109K;ENSP00000426632:E109K;ENSP00000422015:E109K	ENSP00000284037:E109K	E	+	1	0	ERBB2IP	65343650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.703000	0.92315	0.655000	0.94253	GAA	ERBB2IP	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.289	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65307894	1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65307894	G	A	65307894	3	1	151	1	0	0	0	0	1	0	0	0	5219	943	33	1	335	1	ERBB2IP	5	65307894	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10726684	65307894	115607366	265	24898										
PIK3R1	5295	genome.wustl.edu	37	chr5	67576382	67576382	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaagctccgaagaatatattCagctattgaagaagcttatt	7	6	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:67576382C>G	ENST00000521381.1	+	6	1277	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	PIK3R1_ENST00000274335.5_Missense_Mutation_p.Q221E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Q221E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Q221E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	221	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGAATATATTCAGCTATTGAA	0.353			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											119	136	130					5																	67576382		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.661C>G	5.37:g.67576382C>G	ENSP00000428056:p.Gln221Glu		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.Q221E	ENST00000521381.1	37	c.661	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493716	0.26774	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.61	4.74	0.60224	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	N	0.21373	0.66	0.80722	D	1	B	0.27910	0.193	B	0.30029	0.11	T	0.04153	-1.0973	10	0.06236	T	0.91	-15.2429	13.924	0.63950	0.0:0.9272:0.0:0.0728	.	221	P27986	P85A_HUMAN	E	221;221;221;221;123	ENSP00000428056:Q221E;ENSP00000429277:Q221E;ENSP00000379855:Q221E;ENSP00000274335:Q221E;ENSP00000428566:Q123E	ENSP00000274335:Q221E	Q	+	1	0	PIK3R1	67612138	1.000000	0.71417	0.989000	0.46669	0.503000	0.33858	5.591000	0.67536	2.643000	0.89663	0.462000	0.41574	CAG	PIK3R1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	C	NM_181504		67576382	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67576382	C	G	67576382	3	3	151	1	0	0	0	0	1	0	0	0	11942	827	29	1	679	1	PIK3R1	5	67576382	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2268488	67576382	113338878	266	24899										
TAF9	6880	genome.wustl.edu	37	chr5	68651483	68651483	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttcctttcttaccttgtttCaagtctttcgtacaatacat	3	10	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:68651483C>G	ENST00000380822.4	-	4	370	c.319G>C	c.(319-321)Gaa>Caa	p.E107Q	TAF9_ENST00000380818.3_Missense_Mutation_p.E104Q|TAF9_ENST00000512561.1_Missense_Mutation_p.E76Q|TAF9_ENST00000502819.1_Intron	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TACCTTGTTTCAAGTCTTTCG	0.318																																																	0													75	71	72					5																	68651483		2203	4300	6503	SO:0001583	missense	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.319G>C	5.37:g.68651483C>G	ENSP00000370201:p.Glu107Gln		D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	pfam_ATPase_AAA_core	p.E107Q	ENST00000380822.4	37	c.319	CCDS4001.1	5	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570551	0.45798	.	.	ENSG00000085231	ENST00000380822;ENST00000380818;ENST00000512561	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	U	0.000000	T	0.53674	0.1811	L	0.37561	1.115	0.80722	D	1	B;B	0.20459	0.037;0.045	B;B	0.20184	0.016;0.028	T	0.47611	-0.9104	9	0.18710	T	0.47	-9.2427	18.0206	0.89253	0.0:1.0:0.0:0.0	.	104;107	Q9Y3D8-2;Q9Y3D8	.;KAD6_HUMAN	Q	107;104;76	.	ENSP00000370197:E104Q	E	-	1	0	TAF9	68687239	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.665000	0.54532	2.564000	0.86499	0.305000	0.20034	GAA	TAF9	-	NULL		0.318	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216793.1	C	NM_003187		68651483	-1	no_errors	ENST00000380822	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68651483	C	G	68651483	3	3	151	1	0	0	0	0	1	0	0	0	15565	835	29	1	207	1	TAF9	5	68651483	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1075101	68651483	112263777	267	24900										
NAIP	4671	genome.wustl.edu	37	chr5	70308577	70308577	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttgcttcactgcgcatttGagagttgtagcctttctgca	9	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:70308577G>A	ENST00000517649.1	-	4	456	c.166C>T	c.(166-168)Caa>Taa	p.Q56*	NAIP_ENST00000194097.4_Nonsense_Mutation_p.Q56*|NAIP_ENST00000508426.2_Nonsense_Mutation_p.Q56*|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	56					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTGCGCATTTGAGAGTTGTAG	0.483																																																	0													190	171	177					5																	70308577		2202	4296	6498	SO:0001587	stop_gained	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.166C>T	5.37:g.70308577G>A	ENSP00000428657:p.Gln56*		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Nonsense_Mutation	SNP	pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.Q56*	ENST00000517649.1	37	c.166	CCDS4009.1	5	.	.	.	.	.	.	.	.	.	.	g	11.86	1.763589	0.31228	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	.	.	.	3.06	1.05	0.20165	.	0.593381	0.12708	U	0.445797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	1.762	0.02994	0.1119:0.1692:0.3001:0.4188	.	.	.	.	X	56	.	ENSP00000443944:Q56X	Q	-	1	0	NAIP	70344333	0.000000	0.05858	0.003000	0.11579	0.080000	0.17528	0.048000	0.14078	0.234000	0.21139	0.430000	0.28490	CAA	NAIP	-	NULL		0.483	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	G	NM_004536		70308577	-1	no_errors	ENST00000194097	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	70308577	G	A	70308577	4	1	151	1	0	0	0	0	0	1	0	0	10170	1299	45	1	4101	1	NAIP	5	70308577	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1657094	70308577	110606683	268	24901										
MAP1B	4131	genome.wustl.edu	37	chr5	71490611	71490611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catctttgattgtgtggcatCcagcaaaccctgcggagaaa	10	10	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:71490611C>A	ENST00000296755.7	+	5	1727	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	477					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGTGTGGCATCCAGCAAACCC	0.448																																					Melanoma(17;367 822 11631 31730 47712)												0													84	85	85					5																	71490611		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1429C>A	5.37:g.71490611C>A	ENSP00000296755:p.Pro477Thr		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P477T	ENST00000296755.7	37	c.1429	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854389	0.71719	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03889	3.77;3.77;3.77	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000015	T	0.26882	0.0658	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00998	-1.1486	10	0.87932	D	0	-9.9487	19.6914	0.96002	0.0:1.0:0.0:0.0	.	351;477	A2BDK6;P46821	.;MAP1B_HUMAN	T	477;494;351	ENSP00000296755:P477T;ENSP00000423444:P494T;ENSP00000423416:P351T	ENSP00000296755:P477T	P	+	1	0	MAP1B	71526367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	CCA	MAP1B	-	NULL		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71490611	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71490611	C	A	71490611	3	1	151	1	0	0	0	0	1	0	0	0	9251	855	30	3	1447	3	MAP1B	5	71490611	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1182034	71490611	109424649	269	24902										
MAP1B	4131	genome.wustl.edu	37	chr5	71490899	71490899	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgaggtcacaaaagtgaatCacgtggaaaagccacccaaa	9	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:71490899C>G	ENST00000296755.7	+	5	2015	c.1717C>G	c.(1717-1719)Cac>Gac	p.H573D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	573					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAAGTGAATCACGTGGAAAA	0.438																																					Melanoma(17;367 822 11631 31730 47712)												0													52	53	53					5																	71490899		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1717C>G	5.37:g.71490899C>G	ENSP00000296755:p.His573Asp		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.H573D	ENST00000296755.7	37	c.1717	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	0.921	-0.715954	0.03206	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03663	3.85;3.85;3.85	5.41	5.41	0.78517	.	0.510888	0.17754	N	0.163128	T	0.04318	0.0119	L	0.29908	0.895	0.32169	N	0.581851	B;B	0.19583	0.037;0.016	B;B	0.14578	0.011;0.004	T	0.26608	-1.0098	10	0.12766	T	0.61	-1.3341	19.2047	0.93724	0.0:1.0:0.0:0.0	.	447;573	A2BDK6;P46821	.;MAP1B_HUMAN	D	573;590;447	ENSP00000296755:H573D;ENSP00000423444:H590D;ENSP00000423416:H447D	ENSP00000296755:H573D	H	+	1	0	MAP1B	71526655	0.584000	0.26766	0.196000	0.23383	0.598000	0.36846	2.819000	0.48049	2.535000	0.85469	0.563000	0.77884	CAC	MAP1B	-	NULL		0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71490899	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.749	G	G	71490899	C	G	71490899	3	3	151	1	0	0	0	0	1	0	0	0	9251	826	29	1	1735	1	MAP1B	5	71490899	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	288	71490899	109424361	270	24903										
MAP1B	4131	genome.wustl.edu	37	chr5	71491642	71491642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atagcagccattggccctgcCaaagaactcgaagctgagag	11	11	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:71491642C>T	ENST00000296755.7	+	5	2758	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	820					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGGCCCTGCCAAAGAACTCG	0.547																																					Melanoma(17;367 822 11631 31730 47712)												0													52	54	53					5																	71491642		2202	4300	6502	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2460C>T	5.37:g.71491642C>T			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.A820	ENST00000296755.7	37	c.2460	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71491642	1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	0.941	T	T	71491642	C	T	71491642	2	4	151	1	0	0	0	0	0	0	0	1	9251	581	21	4		4	MAP1B	5	71491642	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	743	71491642	109423618	271	24904										
RGNEF	64283	genome.wustl.edu	37	chr5	73153511	73153511	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagaatgggataaatacatCatacctgccaaatcagagtc	8	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:73153511C>T	ENST00000426542.2	+	14	1841	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	ARHGEF28_ENST00000296794.6_Silent_p.I607I|ARHGEF28_ENST00000513042.2_Silent_p.I607I|ARHGEF28_ENST00000296799.4_Silent_p.I294I|ARHGEF28_ENST00000437974.1_Silent_p.I607I|ARHGEF28_ENST00000287898.5_Silent_p.I607I|ARHGEF28_ENST00000545377.1_Silent_p.I607I			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	607					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ATAAATACATCATACCTGCCA	0.353																																																	0													65	65	65					5																	73153511		1878	4097	5975	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1821C>T	5.37:g.73153511C>T			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I607	ENST00000426542.2	37	c.1821	CCDS54870.1	5																																																																																			ARHGEF28	-	NULL		0.353	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	C			73153511	1	no_errors	ENST00000545377	ensembl	human	known	70_37	silent	SNP	0.982	T	T	73153511	C	T	73153511	2	4	151	1	0	0	0	0	0	0	0	1	13313	816	29	1		1	RGNEF	5	73153511	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1661869	73153511	107761749	272	24905										
HEXB	3074	genome.wustl.edu	37	chr5	74009455	74009455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgggcatacactatcttgggGaaaaggtaaggagttgtatt	13	4	1	0	rs550315046		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:74009455G>T	ENST00000261416.7	+	7	1013	c.896G>T	c.(895-897)gGa>gTa	p.G299V	HEXB_ENST00000511181.1_Missense_Mutation_p.G74V	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	299					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CTATCTTGGGGAAAAGGTAAG	0.388													G|||	1	0.000199681	8e-04	0	5008	,	,		17186	0		0	False		,,,				2504	0				Melanoma(66;841 1270 13391 18706 27225)												0													108	106	107					5																	74009455		2203	4300	6503	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.896G>T	5.37:g.74009455G>T	ENSP00000261416:p.Gly299Val			Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.G299V	ENST00000261416.7	37	c.896	CCDS4022.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392466	0.83011	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.94966	-3.57;-3.57	5.59	5.59	0.84812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98014	1.0367	10	0.87932	D	0	-21.3603	19.5902	0.95508	0.0:0.0:1.0:0.0	.	299	P07686	HEXB_HUMAN	V	74;299	ENSP00000426285:G74V;ENSP00000261416:G299V	ENSP00000261416:G299V	G	+	2	0	HEXB	74045211	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	9.869000	0.99810	2.629000	0.89072	0.555000	0.69702	GGA	HEXB	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.388	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	G	NM_000521		74009455	1	no_errors	ENST00000261416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74009455	G	T	74009455	3	4	151	1	0	0	0	0	1	0	0	0	7094	1174	41	3	922	3	HEXB	5	74009455	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	855944	74009455	106905805	273	24906										
JMY	133746	genome.wustl.edu	37	chr5	78610183	78610183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccaagaggatcattgtgactCtttaccaagtgtgttacagg	10	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:78610183C>T	ENST00000396137.4	+	9	2630	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	723					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CATTGTGACTCTTTACCAAGT	0.463																																																	0													78	80	79					5																	78610183		2027	4212	6239	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2168C>T	5.37:g.78610183C>T	ENSP00000379441:p.Ser723Phe		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.S723F	ENST00000396137.4	37	c.2168	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695842	0.30052	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.74209	-0.82	4.36	3.47	0.39725	.	0.853589	0.10159	N	0.708585	T	0.77791	0.4183	L	0.57536	1.79	0.09310	N	1	P	0.45212	0.853	P	0.51777	0.679	T	0.64778	-0.6327	10	0.62326	D	0.03	.	8.0119	0.30357	0.0:0.7523:0.1621:0.0856	.	723	Q8N9B5	JMY_HUMAN	F	723	ENSP00000379441:S723F	ENSP00000282259:S723F	S	+	2	0	JMY	78645939	0.336000	0.24757	0.003000	0.11579	0.160000	0.22226	2.828000	0.48120	0.807000	0.34208	0.585000	0.79938	TCT	JMY	-	NULL		0.463	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	C	NM_152405		78610183	1	no_errors	ENST00000396137	ensembl	human	known	70_37	missense	SNP	0.005	T	T	78610183	C	T	78610183	3	4	151	1	0	0	0	0	1	0	0	0	7977	913	32	1	2202	1	JMY	5	78610183	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4600728	78610183	102305077	274	24907										
FAM151B	167555	genome.wustl.edu	37	chr5	79809527	79809527	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaacaaacagtgataatactCtacaggagtggctgactgaa	9	7	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:79809527C>G	ENST00000282226.4	+	3	411	c.256C>G	c.(256-258)Cta>Gta	p.L86V	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	86										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGATAATACTCTACAGGAGTG	0.408																																																	0													99	91	94					5																	79809527		2203	4300	6503	SO:0001583	missense	167555				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.256C>G	5.37:g.79809527C>G	ENSP00000282226:p.Leu86Val		A2RRE4	Missense_Mutation	SNP	pfam_DUF2181	p.L86V	ENST00000282226.4	37	c.256	CCDS4051.1	5	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308821	0.60305	.	.	ENSG00000152380	ENST00000282226	T	0.23552	1.9	6.04	0.487	0.16842	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.80028	2.48	0.48632	D	0.999683	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	10	0.48119	T	0.1	-14.8375	9.9781	0.41797	0.0:0.5534:0.0:0.4466	.	86	Q6UXP7	F151B_HUMAN	V	86	ENSP00000282226:L86V	ENSP00000282226:L86V	L	+	1	2	FAM151B	79845283	0.393000	0.25237	0.059000	0.19551	0.820000	0.46376	0.952000	0.29149	-0.210000	0.10140	0.563000	0.77884	CTA	FAM151B	-	pfam_DUF2181		0.408	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151B	HGNC	protein_coding	OTTHUMT00000254072.1	C	NM_205548		79809527	1	no_errors	ENST00000282226	ensembl	human	known	70_37	missense	SNP	0.808	G	G	79809527	C	G	79809527	3	3	151	1	0	0	0	0	1	0	0	0	5474	912	32	1	266	1	FAM151B	5	79809527	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1199344	79809527	101105733	275	24908										
LIX1	167410	genome.wustl.edu	37	chr5	96443085	96443085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctggtggaggctactgcttcCtgaacactttccataatgaa	9	10	0	2	rs373855407		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:96443085C>T	ENST00000274382.4	-	3	661	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	122										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTACTGCTTCCTGAACACTTT	0.512																																																	0								C		0,4406		0,0,2203	106	100	102		366	3.2	1	5		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LIX1	NM_153234.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		122/283	96443085	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	167410				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.366G>A	5.37:g.96443085C>T			A8K4R9|Q8N7I2	Silent	SNP	NULL	p.Q122	ENST00000274382.4	37	c.366	CCDS4088.1	5																																																																																			LIX1	-	NULL		0.512	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1	C	NM_153234		96443085	-1	no_errors	ENST00000274382	ensembl	human	known	70_37	silent	SNP	1.000	T	T	96443085	C	T	96443085	2	4	151	1	0	0	0	0	0	0	0	1	8852	680	24	4		4	LIX1	5	96443085	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	16633558	96443085	84472175	276	24909										
WDR36	134430	genome.wustl.edu	37	chr5	110428117	110428117	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actgggtacgtgttttccttCaggaccagagctgagaggag	14	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:110428117C>G	ENST00000513710.2	+	1	135	c.131C>G	c.(130-132)tCa>tGa	p.S44*	CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000506538.2_Nonsense_Mutation_p.S44*|WDR36_ENST00000505303.1_5'UTR			Q8NI36	WDR36_HUMAN	WD repeat domain 36	44					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGTTTTCCTTCAGGACCAGAG	0.637																																																	0													55	62	60					5																	110428117		2202	4300	6502	SO:0001587	stop_gained	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.131C>G	5.37:g.110428117C>G	ENSP00000424628:p.Ser44*		A2RUS4|Q68E02|Q8N1Q2	Nonsense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S44*	ENST00000513710.2	37	c.131	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469882	0.63625	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	.	.	.	5.22	-0.14	0.13456	.	1.610270	0.03994	N	0.295419	.	.	.	.	.	.	0.20307	N	0.999911	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	4.417	0.9911	0.01457	0.1516:0.3362:0.2565:0.2556	.	.	.	.	X	44	.	ENSP00000423067:S44X	S	+	2	0	WDR36	110456016	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.577000	0.02127	-0.282000	0.09128	-0.345000	0.07892	TCA	WDR36	-	NULL		0.637	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	C	NM_139281		110428117	1	no_errors	ENST00000506538	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	110428117	C	G	110428117	4	3	151	1	0	0	0	0	0	1	0	0	17321	838	29	1	133	1	WDR36	5	110428117	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	13985032	110428117	70487143	277	24910										
AQPEP	206338	genome.wustl.edu	37	chr5	115319106	115319106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatccaagttatgtggcccTttccaacatgccaaagctag	7	12	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:115319106T>A	ENST00000357872.4	+	2	942	c.818T>A	c.(817-819)cTt>cAt	p.L273H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		273						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TATGTGGCCCTTTCCAACATG	0.368																																																	0													102	103	103					5																	115319106		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.818T>A	5.37:g.115319106T>A	ENSP00000350541:p.Leu273His		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L273H	ENST00000357872.4	37	c.818	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431468	0.83776	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06849	3.25	5.54	5.54	0.83059	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.088985	0.47852	D	0.000212	T	0.32224	0.0822	M	0.93462	3.42	0.80722	D	1	D	0.56968	0.978	P	0.54499	0.754	T	0.45293	-0.9271	10	0.87932	D	0	.	14.9544	0.71101	0.0:0.0:0.0:1.0	.	273	Q6Q4G3	AMPQ_HUMAN	H	273;262	ENSP00000350541:L273H	ENSP00000350541:L273H	L	+	2	0	AC010282.1	115347005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.234000	0.73211	0.528000	0.53228	CTT	AQPEP	-	pfam_Peptidase_M1_N		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	T			115319106	1	no_errors	ENST00000357872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115319106	T	A	115319106	3	1	151	1	0	0	0	0	1	0	0	0	834	1609	56	5	824	5	AQPEP	5	115319106	Missense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	4890989	115319106	65596154	278	24911										
SLC12A2	6558	genome.wustl.edu	37	chr5	127493755	127493755	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttaaattaggccacagtgtCttgttatgacaggtgctcca	9	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:127493755C>T	ENST00000262461.2	+	16	2563	c.2374C>T	c.(2374-2376)Ctt>Ttt	p.L792F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L792F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	792					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCCACAGTGTCTTGTTATGAC	0.348																																																	0													129	118	122					5																	127493755		2203	4300	6503	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2374C>T	5.37:g.127493755C>T	ENSP00000262461:p.Leu792Phe		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L792F	ENST00000262461.2	37	c.2374	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840447	0.71488	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99051	-5.37;-5.37	5.3	4.41	0.53225	Amino acid permease domain (1);	0.072822	0.53938	D	0.000044	D	0.99468	0.9811	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98703	1.0701	10	0.72032	D	0.01	.	9.1151	0.36753	0.149:0.7696:0.0:0.0814	.	792;792	P55011-3;P55011	.;S12A2_HUMAN	F	792	ENSP00000262461:L792F;ENSP00000340878:L792F	ENSP00000262461:L792F	L	+	1	0	SLC12A2	127521654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.331000	0.33793	1.419000	0.47118	0.650000	0.86243	CTT	SLC12A2	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	C	NM_001046		127493755	1	no_errors	ENST00000262461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127493755	C	T	127493755	3	4	151	1	0	0	0	0	1	0	0	0	14413	913	32	1	2436	1	SLC12A2	5	127493755	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	12174649	127493755	53421505	279	24912										
HINT1	3094	genome.wustl.edu	37	chr5	130495251	130495251	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accattcgataacccttattCaggcccagatcagcagcaca	6	14	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:130495251C>G	ENST00000304043.5	-	3	549	c.270G>C	c.(268-270)ctG>ctC	p.L90L	HINT1_ENST00000506207.1_5'UTR	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	90	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)			endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	AACCCTTATTCAGGCCCAGAT	0.433																																																	0													160	124	136					5																	130495251		2203	4300	6503	SO:0001819	synonymous_variant	3094			BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"histidine triad nucleotide-binding protein"	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.270G>C	5.37:g.130495251C>G			Q9H5W8	Silent	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT,prints_Histidine_triad_HIT	p.L90	ENST00000304043.5	37	c.270	CCDS4147.1	5																																																																																			HINT1	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT		0.433	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINT1	HGNC	protein_coding	OTTHUMT00000250984.1	C	NM_005340		130495251	-1	no_errors	ENST00000304043	ensembl	human	known	70_37	silent	SNP	0.315	G	G	130495251	C	G	130495251	2	3	151	1	0	0	0	0	0	0	0	1	7131	813	29	1		1	HINT1	5	130495251	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3001496	130495251	50420009	280	24913										
IRF1	3659	genome.wustl.edu	37	chr5	131823709	131823709	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttccatgggatctggaagatCatctcctcctgaacaataca	7	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:131823709C>G	ENST00000245414.4	-	3	354	c.96G>C	c.(94-96)atG>atC	p.M32I	IRF1_ENST00000405885.2_Missense_Mutation_p.M32I|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	32					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGGAAGATCATCTCCTCCT	0.547																																																	0													101	78	86					5																	131823709		2202	4300	6502	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.96G>C	5.37:g.131823709C>G	ENSP00000245414:p.Met32Ile		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.M32I	ENST00000245414.4	37	c.96	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565189	0.86439	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.35	4.48	0.54585	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.076408	0.85682	D	0.000000	D	0.97436	0.9161	L	0.34521	1.04	0.53688	D	0.999974	P;P	0.41393	0.734;0.748	B;P	0.61275	0.297;0.886	D	0.97746	1.0211	10	0.56958	D	0.05	-17.7267	13.8496	0.63487	0.0:0.9264:0.0:0.0736	.	32;32	Q5FBX3;P10914	.;IRF1_HUMAN	I	32	ENSP00000245414:M32I;ENSP00000384406:M32I;ENSP00000405655:M32I;ENSP00000396318:M32I	ENSP00000245414:M32I	M	-	3	0	IRF1	131851608	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.214000	0.51161	1.263000	0.44181	0.655000	0.94253	ATG	IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2		0.547	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	C	NM_002198		131823709	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131823709	C	G	131823709	3	3	151	1	0	0	0	0	1	0	0	0	7847	826	29	1	913	1	IRF1	5	131823709	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1328458	131823709	49091551	281	24914										
GDF9	2661	genome.wustl.edu	37	chr5	132200008	132200008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcagcctaggtgacccacctCgcccaacagatagaactttg	9	14	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:132200008C>T	ENST00000378673.2	-	2	1084	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	UQCRQ_ENST00000378667.1_5'Flank|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R73Q|GDF9_ENST00000464378.1_Intron|UQCRQ_ENST00000378670.3_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	73					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGACCCACCTCGCCCAACAGA	0.498																																																	0													107	114	112					5																	132200008		2203	4300	6503	SO:0001583	missense	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.218G>A	5.37:g.132200008C>T	ENSP00000367942:p.Arg73Gln		Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R73Q	ENST00000378673.2	37	c.218	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	C	5.353	0.250425	0.10130	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59224	0.28;0.28	5.72	-5.13	0.02884	.	0.866782	0.10567	N	0.659540	T	0.26011	0.0634	N	0.04820	-0.15	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.27226	-1.0080	10	0.12430	T	0.62	.	7.2264	0.26018	0.0:0.3465:0.305:0.3485	.	73	O60383	GDF9_HUMAN	Q	73	ENSP00000367942:R73Q;ENSP00000296875:R73Q	ENSP00000296875:R73Q	R	-	2	0	GDF9	132227907	0.000000	0.05858	0.004000	0.12327	0.284000	0.27059	-0.761000	0.04751	-1.090000	0.03069	-0.844000	0.03045	CGA	GDF9	-	NULL		0.498	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	C	NM_005260		132200008	-1	no_errors	ENST00000296875	ensembl	human	known	70_37	missense	SNP	0.000	T	T	132200008	C	T	132200008	3	4	151	1	0	0	0	0	1	0	0	0	6338	884	31	1	1154	1	GDF9	5	132200008	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	376299	132200008	48715252	282	24915										
HSPA4	3308	genome.wustl.edu	37	chr5	132409732	132409732	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggatcttcctgccttagaaGagaaaccaagaaatgtagtt	9	7	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:132409732G>A	ENST00000304858.2	+	6	866	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	193					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCTTAGAAGAGAAACCAAG	0.313																																					Colon(114;1299 1588 6063 12302 48757)												0													75	73	74					5																	132409732		2203	4298	6501	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.577G>A	5.37:g.132409732G>A	ENSP00000302961:p.Glu193Lys		O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E193K	ENST00000304858.2	37	c.577	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.584549	0.96578	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01359	4.98	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.00577	-1.1662	10	0.51188	T	0.08	-21.267	20.0529	0.97634	0.0:0.0:1.0:0.0	.	193	P34932	HSP74_HUMAN	K	193	ENSP00000302961:E193K	ENSP00000302961:E193K	E	+	1	0	HSPA4	132437631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.363000	0.97131	2.814000	0.96858	0.591000	0.81541	GAG	HSPA4	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.313	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	G	NM_002154, NM_198431		132409732	1	no_errors	ENST00000304858	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132409732	G	A	132409732	3	1	151	1	0	0	0	0	1	0	0	0	7432	943	33	1	599	1	HSPA4	5	132409732	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	209724	132409732	48505528	283	24916										
SMAD5	4090	genome.wustl.edu	37	chr5	135513164	135513164	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaccccatatcttctgtttCataatgcagaagtattcttt	5	9	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:135513164C>T	ENST00000545279.1	+	9	1751	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	SMAD5_ENST00000545620.1_Missense_Mutation_p.S464L|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	465	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTCTGTTTCATAATGCAGA	0.383																																																	0													68	70	69					5																	135513164		2013	4235	6248	SO:0001583	missense	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"SMADs"	6771	protein-coding gene	gene with protein product		603110	"MAD, mothers against decapentaplegic homolog 5 (Drosophila)", "SMAD, mothers against DPP homolog 5 (Drosophila)"	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.1391C>T	5.37:g.135513164C>T	ENSP00000441954:p.Ser464Leu		O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S464L	ENST00000545279.1	37	c.1391		5	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796429	0.70567	.	.	ENSG00000113658	ENST00000545279;ENST00000545620	D;D	0.95238	-3.65;-3.65	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.97739	1.0207	9	0.87932	D	0	.	14.7325	0.69393	0.0:0.9307:0.0:0.0693	.	464	F5GWU7	.	L	464	ENSP00000441954:S464L;ENSP00000446474:S464L	ENSP00000441954:S464L	S	+	2	0	SMAD5	135541063	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	7.818000	0.86416	1.448000	0.47680	-0.229000	0.12294	TCA	SMAD5	-	pfscan_SMAD_dom_Dwarfin-type		0.383	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		C	NM_005903		135513164	1	no_errors	ENST00000545279	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135513164	C	T	135513164	3	4	151	1	0	0	0	0	1	0	0	0	14791	826	29	1	1415	1	SMAD5	5	135513164	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3103432	135513164	45402096	284	24917										
GFRA3	2676	genome.wustl.edu	37	chr5	137600194	137600194	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggcacttcctcctggcctgGagacagctgttcatgagtcg	12	12	1	2	rs536166264		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:137600194G>C	ENST00000274721.3	-	2	381	c.135C>G	c.(133-135)ctC>ctG	p.L45L	GFRA3_ENST00000378362.3_Silent_p.L45L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	45					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTGGCCTGGAGACAGCTGT	0.557																																																	0													71	66	68					5																	137600194		2203	4300	6503	SO:0001819	synonymous_variant	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.135C>G	5.37:g.137600194G>C			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.L45	ENST00000274721.3	37	c.135	CCDS4201.1	5																																																																																			GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3		0.557	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	G	NM_001496		137600194	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	silent	SNP	0.996	C	C	137600194	G	C	137600194	2	2	151	1	0	0	0	0	0	0	0	1	6368	1161	41	1		1	GFRA3	5	137600194	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2087030	137600194	43315066	285	24918										
REEP2	51308	genome.wustl.edu	37	chr5	137780478	137780478	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcacgcaggcccgagacaaGagctatgagaccatgatgag	12	10	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:137780478G>C	ENST00000254901.5	+	5	461	c.339G>C	c.(337-339)aaG>aaC	p.K113N	REEP2_ENST00000378339.2_Missense_Mutation_p.K113N|REEP2_ENST00000506158.1_Missense_Mutation_p.K75N	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	113					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCGAGACAAGAGCTATGAGA	0.597																																																	0													81	69	73					5																	137780478		2203	4300	6503	SO:0001583	missense	51308			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"Receptor accessory proteins"	17975	protein-coding gene	gene with protein product		609347	"chromosome 5 open reading frame 19"	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.339G>C	5.37:g.137780478G>C	ENSP00000254901:p.Lys113Asn		Q53EM8|Q9NYF2	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.K113N	ENST00000254901.5	37	c.339	CCDS4205.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111621|4.111621	0.77210|0.77210	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158|ENST00000512126	D;D;D|.	0.88201|.	-2.35;-2.35;-1.51|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.163069|.	0.51477|.	D|.	0.000095|.	T|T	0.71484|0.71484	0.3345|0.3345	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999997|0.999997	P;P|.	0.42649|.	0.786;0.786|.	P;P|.	0.47626|.	0.449;0.552|.	T|T	0.69079|0.69079	-0.5240|-0.5240	10|5	0.62326|.	D|.	0.03|.	-6.8915|-6.8915	17.4692|17.4692	0.87641|0.87641	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	113;113|.	A8K3D2;Q9BRK0|.	.;REEP2_HUMAN|.	N|T	113;113;75|151	ENSP00000367590:K113N;ENSP00000254901:K113N;ENSP00000422530:K75N|.	ENSP00000254901:K113N|.	K|R	+|+	3|2	2|0	REEP2|REEP2	137808377|137808377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.899000|2.899000	0.48679|0.48679	2.670000|2.670000	0.90874|0.90874	0.650000|0.650000	0.86243|0.86243	AAG|AGA	REEP2	-	NULL		0.597	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	REEP2	HGNC	protein_coding	OTTHUMT00000251284.1	G	NM_016606		137780478	1	no_errors	ENST00000378339	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137780478	G	C	137780478	3	2	151	1	0	0	0	0	1	0	0	0	13235	933	33	1	357	1	REEP2	5	137780478	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	180284	137780478	43134782	286	24919										
PCDHA8	56140	genome.wustl.edu	37	chr5	140222207	140222207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgggacgggggctcgccttCgctgtgggccaccgccagct	17	15	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140222207C>T	ENST00000531613.1	+	1	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S434L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.627																																																	0													57	58	58					5																	140222207		2194	4261	6455	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1301C>T	5.37:g.140222207C>T	ENSP00000434655:p.Ser434Leu		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S434L	ENST00000531613.1	37	c.1301	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017858	0.54576	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53423	0.62;0.62	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.823416	0.09813	U	0.752555	T	0.54743	0.1877	M	0.79258	2.445	0.09310	N	1	P;P	0.42827	0.791;0.568	B;B	0.40165	0.321;0.215	T	0.55192	-0.8179	10	0.72032	D	0.01	.	15.9202	0.79556	0.0:1.0:0.0:0.0	.	434;434	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	434	ENSP00000434655:S434L;ENSP00000367363:S434L	ENSP00000367363:S434L	S	+	2	0	PCDHA8	140202391	0.286000	0.24305	0.037000	0.18230	0.431000	0.31685	4.710000	0.61873	1.790000	0.52503	0.306000	0.20318	TCG	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.627	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	C	NM_018911		140222207	1	no_errors	ENST00000531613	ensembl	human	known	70_37	missense	SNP	0.216	T	T	140222207	C	T	140222207	3	4	151	1	0	0	0	0	1	0	0	0	11554	893	31	1	1303	1	PCDHA8	5	140222207	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2441729	140222207	40693053	287	24920										
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347080	140347080	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgctcgggtacggcacagatCtctgtgcgtgtcctggacac	13	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140347080C>T	ENST00000289269.5	+	1	1261	c.729C>T	c.(727-729)atC>atT	p.I243I	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACAGATCTCTGTGCGTG	0.622																																					Melanoma(190;638 2083 3390 11909 52360)												0													63	63	63					5																	140347080		2203	4300	6503	SO:0001819	synonymous_variant	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.729C>T	5.37:g.140347080C>T			Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I243	ENST00000289269.5	37	c.729	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	C	NM_018899		140347080	1	no_errors	ENST00000289269	ensembl	human	known	70_37	silent	SNP	0.967	T	T	140347080	C	T	140347080	2	4	151	1	0	0	0	0	0	0	0	1	11557	903	32	1		1	PCDHAC2	5	140347080	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	124873	140347080	40568180	288	24921										
PCDHB11	56125	genome.wustl.edu	37	chr5	140580141	140580141	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcgctgattttgattgtctCagcttgggatttagactctg	10	8	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140580141C>T	ENST00000354757.3	+	1	794	c.794C>T	c.(793-795)tCa>tTa	p.S265L	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGATTGTCTCAGCTTGGGAT	0.398																																																	0													187	189	188					5																	140580141		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.794C>T	5.37:g.140580141C>T	ENSP00000346802:p.Ser265Leu		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S265L	ENST00000354757.3	37	c.794	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967502	0.18659	.	.	ENSG00000197479	ENST00000354757	T	0.01787	4.64	2.7	1.79	0.24919	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03651	0.0104	M	0.65320	2	0.09310	N	0.999999	B	0.22851	0.076	B	0.37888	0.26	T	0.38650	-0.9651	9	0.48119	T	0.1	.	6.0384	0.19720	0.4971:0.3371:0.1658:0.0	.	265	Q9Y5F2	PCDBB_HUMAN	L	265	ENSP00000346802:S265L	ENSP00000346802:S265L	S	+	2	0	PCDHB11	140560325	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.129000	0.03244	0.431000	0.26258	0.467000	0.42956	TCA	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.398	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	C	NM_018931		140580141	1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.001	T	T	140580141	C	T	140580141	3	4	151	1	0	0	0	0	1	0	0	0	11560	838	29	1	796	1	PCDHB11	5	140580141	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	233061	140580141	40335119	289	24922										
PCDHGB1	56104	genome.wustl.edu	37	chr5	140731523	140731523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtaccccgcgctggggcctGatggctccgccctcttcgat	12	16	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140731523G>A	ENST00000523390.1	+	1	1696	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	566	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCCTGATGGCTCCGC	0.682																																																	0													27	34	32					5																	140731523		2021	4177	6198	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1696G>A	5.37:g.140731523G>A	ENSP00000429273:p.Asp566Asn		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D566N	ENST00000523390.1	37	c.1696	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	17.13	3.311597	0.60414	.	.	ENSG00000254221	ENST00000523390	T	0.48201	0.82	5.39	5.39	0.77823	Cadherin-like (1);	.	.	.	.	T	0.49795	0.1578	N	0.10972	0.075	0.37216	D	0.905016	D;P	0.71674	0.998;0.866	D;P	0.69142	0.962;0.521	T	0.54234	-0.8324	9	0.25106	T	0.35	.	19.1142	0.93331	0.0:0.0:1.0:0.0	.	566;566	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	N	566	ENSP00000429273:D566N	ENSP00000429273:D566N	D	+	1	0	PCDHGB1	140711707	0.132000	0.22450	1.000000	0.80357	0.149000	0.21700	2.431000	0.44775	2.683000	0.91414	0.563000	0.77884	GAT	PCDHGB1	-	superfamily_Cadherin-like		0.682	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140731523	1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140731523	G	A	140731523	3	1	151	1	0	0	0	0	1	0	0	0	11586	1290	45	1	1698	1	PCDHGB1	5	140731523	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	151382	140731523	40183737	290	24923										
PCDHGA7	56108	genome.wustl.edu	37	chr5	140762733	140762733	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcttggtcactgcgggcagGatagaccgggaagagatctg	16	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140762733G>C	ENST00000518325.1	+	1	267	c.267G>C	c.(265-267)agG>agC	p.R89S	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGGGCAGGATAGACCGGG	0.562																																																	0													49	58	55					5																	140762733		2189	4295	6484	SO:0001583	missense	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.267G>C	5.37:g.140762733G>C	ENSP00000430024:p.Arg89Ser		B2RN87|Q9Y5D0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R89S	ENST00000518325.1	37	c.267	CCDS54927.1	5	.	.	.	.	.	.	.	.	.	.	.	15.92	2.975244	0.53720	.	.	ENSG00000253537	ENST00000518325	T	0.35048	1.33	4.86	1.56	0.23342	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66396	0.2785	H	0.98818	4.34	0.25513	N	0.987449	P;P	0.47910	0.698;0.902	P;B	0.53102	0.718;0.444	T	0.61436	-0.7063	9	0.87932	D	0	.	9.2375	0.37475	0.3534:0.0:0.6466:0.0	.	89;89	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	S	89	ENSP00000430024:R89S	ENSP00000430024:R89S	R	+	3	2	PCDHGA7	140742917	0.953000	0.32496	1.000000	0.80357	0.982000	0.71751	0.424000	0.21330	0.576000	0.29452	0.655000	0.94253	AGG	PCDHGA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.562	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	G	NM_018920		140762733	1	no_errors	ENST00000518325	ensembl	human	known	70_37	missense	SNP	0.981	C	C	140762733	G	C	140762733	3	2	151	1	0	0	0	0	1	0	0	0	11583	1165	41	1	269	1	PCDHGA7	5	140762733	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	31210	140762733	40152527	291	24924										
NR3C1	2908	genome.wustl.edu	37	chr5	142779923	142779923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgttctgaagatacatcaGagtgagtttttggaaactcc	10	7	2	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:142779923G>C	ENST00000343796.2	-	2	1475	c.482C>G	c.(481-483)tCt>tGt	p.S161C	NR3C1_ENST00000415690.2_Missense_Mutation_p.S161C|NR3C1_ENST00000394464.2_Missense_Mutation_p.S161C|NR3C1_ENST00000231509.3_Missense_Mutation_p.S161C|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.S161C|NR3C1_ENST00000503201.1_Missense_Mutation_p.S161C|NR3C1_ENST00000424646.2_Missense_Mutation_p.S161C|NR3C1_ENST00000394466.2_Missense_Mutation_p.S161C	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	161	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AGATACATCAGAGTGAGTTTT	0.478																																																	0													74	75	74					5																	142779923		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.482C>G	5.37:g.142779923G>C	ENSP00000343205:p.Ser161Cys		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S161C	ENST00000343796.2	37	c.482	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	7.808	0.715024	0.15306	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;D;T;T;T;T	0.81821	-1.48;-1.48;-1.43;-1.54;-1.48;-1.48;-1.48;-1.48	5.64	3.33	0.38152	.	0.797816	0.11521	N	0.555695	T	0.71693	0.3370	N	0.13327	0.33	0.80722	D	1	P;B;B	0.46512	0.879;0.001;0.001	P;B;B	0.50109	0.631;0.004;0.007	T	0.65413	-0.6174	10	0.31617	T	0.26	.	8.6015	0.33747	0.0918:0.3891:0.5191:0.0	.	161;161;161	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	C	161	ENSP00000377977:S161C;ENSP00000343205:S161C;ENSP00000387672:S161C;ENSP00000405282:S161C;ENSP00000422518:S161C;ENSP00000377979:S161C;ENSP00000231509:S161C;ENSP00000427672:S161C	ENSP00000231509:S161C	S	-	2	0	NR3C1	142760116	0.353000	0.24904	0.878000	0.34440	0.558000	0.35554	2.869000	0.48444	2.658000	0.90341	0.655000	0.94253	TCT	NR3C1	-	pfam_Glcrtcd_rcpt		0.478	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142779923	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	0.819	C	C	142779923	G	C	142779923	3	2	151	1	0	0	0	0	1	0	0	0	10654	942	33	1	1938	1	NR3C1	5	142779923	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2017190	142779923	38135337	292	24925										
NR3C1	2908	genome.wustl.edu	37	chr5	142780157	142780157	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tatacagtcccattgagagtGaaactgctttggacagatct	9	8	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:142780157G>A	ENST00000343796.2	-	2	1241	c.248C>T	c.(247-249)tCa>tTa	p.S83L	NR3C1_ENST00000415690.2_Missense_Mutation_p.S83L|NR3C1_ENST00000394464.2_Missense_Mutation_p.S83L|NR3C1_ENST00000231509.3_Missense_Mutation_p.S83L|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.S83L|NR3C1_ENST00000503201.1_Missense_Mutation_p.S83L|NR3C1_ENST00000424646.2_Missense_Mutation_p.S83L|NR3C1_ENST00000394466.2_Missense_Mutation_p.S83L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	83	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CATTGAGAGTGAAACTGCTTT	0.488																																																	0													134	148	143					5																	142780157		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.248C>T	5.37:g.142780157G>A	ENSP00000343205:p.Ser83Leu		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S83L	ENST00000343796.2	37	c.248	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755740	0.69648	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.84	4.84	0.62591	.	0.150314	0.46442	D	0.000296	T	0.70780	0.3263	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.75668	-0.3238	10	0.87932	D	0	.	18.3334	0.90279	0.0:0.0:1.0:0.0	.	83;83;83	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	L	83	ENSP00000377977:S83L;ENSP00000343205:S83L;ENSP00000387672:S83L;ENSP00000405282:S83L;ENSP00000422518:S83L;ENSP00000377979:S83L;ENSP00000231509:S83L;ENSP00000427672:S83L;ENSP00000424747:S83L;ENSP00000425313:S83L;ENSP00000420856:S83L;ENSP00000426478:S83L;ENSP00000425374:S83L	ENSP00000231509:S83L	S	-	2	0	NR3C1	142760350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.360000	0.66086	2.400000	0.81607	0.561000	0.74099	TCA	NR3C1	-	pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt		0.488	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142780157	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142780157	G	A	142780157	3	1	151	1	0	0	0	0	1	0	0	0	10654	1294	45	1	2172	1	NR3C1	5	142780157	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	234	142780157	38135103	293	24926										
SH3TC2	79628	genome.wustl.edu	37	chr5	148407944	148407944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcttaggtccatgagcagttCcgggtcatcaaggtcatcag	12	10	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:148407944C>T	ENST00000515425.1	-	11	1452	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E444K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E336K|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	451					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCAGTTCCGGGTCATCA	0.567																																																	0													65	67	67					5																	148407944		2203	4300	6503	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1351G>A	5.37:g.148407944C>T	ENSP00000423660:p.Glu451Lys		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.E451K	ENST00000515425.1	37	c.1351	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694177	0.15039	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.75154	-0.91;-0.91;-0.54	5.5	5.5	0.81552	.	0.129067	0.53938	D	0.000043	T	0.51227	0.1662	L	0.28192	0.835	0.36968	D	0.893683	P;B;B;B	0.38020	0.615;0.115;0.115;0.115	B;B;B;B	0.29267	0.1;0.056;0.056;0.056	T	0.55166	-0.8183	10	0.10636	T	0.68	.	6.6322	0.22863	0.0:0.7999:0.0:0.2001	.	336;444;451;451	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	K	451;444;336	ENSP00000423660:E451K;ENSP00000421860:E444K;ENSP00000377886:E336K	ENSP00000377886:E336K	E	-	1	0	SH3TC2	148388137	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	4.107000	0.57811	2.861000	0.98227	0.655000	0.94253	GAA	SH3TC2	-	NULL		0.567	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	C	NM_024577		148407944	-1	no_errors	ENST00000515425	ensembl	human	known	70_37	missense	SNP	0.978	T	T	148407944	C	T	148407944	3	4	151	1	0	0	0	0	1	0	0	0	14292	864	30	1	2543	1	SH3TC2	5	148407944	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5627787	148407944	32507316	294	24927										
FAT2	2196	genome.wustl.edu	37	chr5	150946710	150946710	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aatctcgtattttaggttctGaagctcatccacatctatgg	7	9	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:150946710G>A	ENST00000261800.5	-	1	1795	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q595*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTAGGTTCTGAAGCTCATCC	0.413																																																	1	Substitution - Nonsense(1)	lung(1)											101	102	102					5																	150946710		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1783C>T	5.37:g.150946710G>A	ENSP00000261800:p.Gln595*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q595*	ENST00000261800.5	37	c.1783	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.515761	0.98332	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.75	5.75	0.90469	.	0.207411	0.34110	N	0.004248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.9392	0.97153	0.0:0.0:1.0:0.0	.	.	.	.	X	595	.	ENSP00000261800:Q595X	Q	-	1	0	FAT2	150926903	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.550000	0.60733	2.713000	0.92767	0.655000	0.94253	CAG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150946710	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	150946710	G	A	150946710	4	1	151	1	0	0	0	0	0	1	0	0	5708	1299	45	1	11358	1	FAT2	5	150946710	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2538766	150946710	29968550	295	24928										
FAT2	2196	genome.wustl.edu	37	chr5	150946976	150946976	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccccaggtaggggtcaataGaaaatggcaaagcttttggt	12	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:150946976G>A	ENST00000261800.5	-	1	1529	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	506	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCAATAGAAAATGGCAA	0.483																																																	0													66	70	68					5																	150946976		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1517C>T	5.37:g.150946976G>A	ENSP00000261800:p.Ser506Phe		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S506F	ENST00000261800.5	37	c.1517	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	7.771	0.707467	0.15239	.	.	ENSG00000086570	ENST00000261800	T	0.54279	0.58	5.72	3.83	0.44106	Cadherin (4);Cadherin-like (1);	0.568970	0.17141	N	0.185443	T	0.57066	0.2028	M	0.63843	1.955	0.09310	N	1	D	0.54397	0.966	P	0.60541	0.876	T	0.48479	-0.9032	10	0.10111	T	0.7	.	4.7388	0.13003	0.0987:0.146:0.6053:0.15	.	506	Q9NYQ8	FAT2_HUMAN	F	506	ENSP00000261800:S506F	ENSP00000261800:S506F	S	-	2	0	FAT2	150927169	0.627000	0.27129	0.084000	0.20598	0.035000	0.12851	2.444000	0.44890	1.365000	0.46057	0.655000	0.94253	TCT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150946976	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.004	A	A	150946976	G	A	150946976	3	1	151	1	0	0	0	0	1	0	0	0	5708	942	33	1	11624	1	FAT2	5	150946976	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	266	150946976	29968284	296	24929										
LARP1	23367	genome.wustl.edu	37	chr5	154191164	154191164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccaaactgcaagaatacctCggcaaattccgacgtcttga	7	13	1	2	rs557318389		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:154191164C>T	ENST00000336314.4	+	18	2838	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1015					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAATACCTCGGCAAATTCC	0.448													C|||	1	0.000199681	0	0	5008	,	,		22066	0.001		0	False		,,,				2504	0																0													100	101	101					5																	154191164		2203	4300	6503	SO:0001819	synonymous_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2814C>T	5.37:g.154191164C>T			O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.L938	ENST00000336314.4	37	c.2814	CCDS4328.1	5																																																																																			LARP1	-	NULL		0.448	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154191164	1	no_errors	ENST00000336314	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154191164	C	T	154191164	2	4	151	1	0	0	0	0	0	0	0	1	8648	871	31	1		1	LARP1	5	154191164	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3244188	154191164	26724096	297	24930										
IL12B	3593	genome.wustl.edu	37	chr5	158750066	158750066	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagggtatagaattacctttCtggtcctttaaaatatcagt	7	6	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:158750066C>G	ENST00000231228.2	-	3	815	c.360G>C	c.(358-360)caG>caC	p.Q120H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	120					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTACCTTTCTGGTCCTTTA	0.393																																																	0													62	65	64					5																	158750066		2203	4300	6503	SO:0001583	missense	3593			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.360G>C	5.37:g.158750066C>G	ENSP00000231228:p.Gln120His			Missense_Mutation	SNP	pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta	p.Q120H	ENST00000231228.2	37	c.360	CCDS4346.1	5	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454492	0.26161	.	.	ENSG00000113302	ENST00000231228	T	0.18174	2.23	5.33	4.45	0.53987	Fibronectin, type III (1);	0.959802	0.08768	N	0.896740	T	0.19208	0.0461	M	0.72118	2.19	0.31997	N	0.603912	P	0.48589	0.912	B	0.38500	0.275	T	0.07252	-1.0782	10	0.15952	T	0.53	-4.9137	10.2963	0.43627	0.0:0.9061:0.0:0.0939	.	120	P29460	IL12B_HUMAN	H	120	ENSP00000231228:Q120H	ENSP00000231228:Q120H	Q	-	3	2	IL12B	158682644	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.583000	0.23849	2.490000	0.84030	0.655000	0.94253	CAG	IL12B	-	superfamily_Fibronectin_type3,pirsf_IL_12_beta		0.393	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	C	NM_002187		158750066	-1	no_errors	ENST00000231228	ensembl	human	known	70_37	missense	SNP	1.000	G	G	158750066	C	G	158750066	3	3	151	1	0	0	0	0	1	0	0	0	7645	912	32	1	646	1	IL12B	5	158750066	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4558902	158750066	22165194	298	24931										
PWWP2A	114825	genome.wustl.edu	37	chr5	159520795	159520795	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aattttccgaggaggtggctGaggtattgattggttatatg	14	3	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:159520795G>C	ENST00000307063.7	-	2	896	c.862C>G	c.(862-864)Cag>Gag	p.Q288E	PWWP2A_ENST00000523662.1_Missense_Mutation_p.Q288E|PWWP2A_ENST00000456329.3_Missense_Mutation_p.Q288E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	288	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGGTGGCTGAGGTATTGAT	0.448																																																	0													178	168	171					5																	159520795		1878	4103	5981	SO:0001583	missense	114825				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.862C>G	5.37:g.159520795G>C	ENSP00000305151:p.Gln288Glu		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	pfam_PWWP,smart_PWWP,pfscan_PWWP	p.Q288E	ENST00000307063.7	37	c.862	CCDS47332.1	5	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577873	0.65878	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.25749	1.78;1.78;1.78	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.83275	0.985;0.996;0.994	T	0.43925	-0.9361	10	0.52906	T	0.07	-12.8192	19.3938	0.94596	0.0:0.0:1.0:0.0	.	288;288;288	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	E	288	ENSP00000390462:Q288E;ENSP00000428143:Q288E;ENSP00000305151:Q288E	ENSP00000305151:Q288E	Q	-	1	0	PWWP2A	159453373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.735000	0.98825	2.687000	0.91594	0.563000	0.77884	CAG	PWWP2A	-	NULL		0.448	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1	G			159520795	-1	no_errors	ENST00000307063	ensembl	human	known	70_37	missense	SNP	1.000	C	C	159520795	G	C	159520795	3	2	151	1	0	0	0	0	1	0	0	0	12875	1299	45	1	1551	1	PWWP2A	5	159520795	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	770729	159520795	21394465	299	24932										
ATP10B	23120	genome.wustl.edu	37	chr5	160114974	160114974	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcaagttgtagctctgtctCcctttctctggagagagcag	11	10	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:160114974C>G	ENST00000327245.5	-	5	954	c.108G>C	c.(106-108)ggG>ggC	p.G36G	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	36					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTCTGTCTCCCTTTCTCTG	0.542																																																	0													152	153	152					5																	160114974		2046	4208	6254	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.108G>C	5.37:g.160114974C>G			Q9H725	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G36	ENST00000327245.5	37	c.108	CCDS43394.1	5																																																																																			ATP10B	-	NULL		0.542	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160114974	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	silent	SNP	0.000	G	G	160114974	C	G	160114974	2	3	151	1	0	0	0	0	0	0	0	1	1118	842	30	1		1	ATP10B	5	160114974	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	594179	160114974	20800286	300	24933										
HMMR	3161	genome.wustl.edu	37	chr5	162909670	162909670	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ataaagcgttaacagccagtGagatagaagatcttaagctg	10	6	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:162909670G>A	ENST00000358715.3	+	13	1441	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	HMMR_ENST00000353866.3_Missense_Mutation_p.E454K|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.E470K|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.E383K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	469					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AACAGCCAGTGAGATAGAAGA	0.358																																																	0													60	62	61					5																	162909670		2203	4300	6503	SO:0001583	missense	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1405G>A	5.37:g.162909670G>A	ENSP00000351554:p.Glu469Lys		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.E470K	ENST00000358715.3	37	c.1408	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546191	0.86022	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.54	5.54	0.83059	.	0.276499	0.40728	N	0.001034	T	0.31231	0.0790	M	0.71581	2.175	0.43852	D	0.996449	D;D;D;D	0.65815	0.993;0.995;0.989;0.995	P;P;D;D	0.64144	0.84;0.894;0.91;0.922	T	0.00235	-1.1892	10	0.52906	T	0.07	-22.2482	16.7937	0.85596	0.0:0.0:1.0:0.0	.	383;470;454;469	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	355;454;470;446;383;469	ENSP00000400527:E355K;ENSP00000185942:E454K;ENSP00000377492:E470K;ENSP00000402673:E383K;ENSP00000351554:E469K	ENSP00000185942:E454K	E	+	1	0	HMMR	162842248	1.000000	0.71417	0.923000	0.36655	0.569000	0.35902	2.872000	0.48467	2.880000	0.98712	0.650000	0.86243	GAG	HMMR	-	NULL		0.358	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162909670	1	no_errors	ENST00000393915	ensembl	human	known	70_37	missense	SNP	0.881	A	A	162909670	G	A	162909670	3	1	151	1	0	0	0	0	1	0	0	0	7262	1291	45	1	1458	1	HMMR	5	162909670	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2794696	162909670	18005590	301	24934										
ODZ2	57451	genome.wustl.edu	37	chr5	167675223	167675223	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccaagctggtccacttcactCagcgtgattatgatgtgctg	10	11	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:167675223C>G	ENST00000518659.1	+	27	7318	c.7279C>G	c.(7279-7281)Cag>Gag	p.Q2427E	TENM2_ENST00000403607.2_Missense_Mutation_p.Q2251E|TENM2_ENST00000545108.1_Missense_Mutation_p.Q2426E|TENM2_ENST00000519204.1_Missense_Mutation_p.Q2306E|TENM2_ENST00000520394.1_Missense_Mutation_p.Q2188E	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2427					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCACTTCACTCAGCGTGATTA	0.522																																																	0													82	84	83					5																	167675223		2024	4191	6215	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7279C>G	5.37:g.167675223C>G	ENSP00000429430:p.Gln2427Glu		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q2427E	ENST00000518659.1	37	c.7279		5	.	.	.	.	.	.	.	.	.	.	C	6.660	0.490284	0.12702	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88664	-1.94;-1.93;-2.03;-2.4;-2.41	4.58	4.58	0.56647	Rhs repeat-associated core (1);	0.104706	0.64402	N	0.000003	T	0.81064	0.4745	N	0.20610	0.595	0.47862	D	0.999534	B;B;B	0.34329	0.001;0.001;0.449	B;B;B	0.35278	0.009;0.004;0.199	T	0.78056	-0.2353	10	0.09338	T	0.73	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	2426;2427;2188	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	E	2427;2426;2306;2188;2251	ENSP00000429430:Q2427E;ENSP00000438635:Q2426E;ENSP00000428964:Q2306E;ENSP00000427874:Q2188E;ENSP00000384905:Q2251E	ENSP00000384905:Q2251E	Q	+	1	0	ODZ2	167607801	1.000000	0.71417	0.962000	0.40283	0.965000	0.64279	5.889000	0.69766	2.552000	0.86080	0.556000	0.70494	CAG	TENM2	-	tigrfam_Rhs_assc_core		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167675223	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	0.999	G	G	167675223	C	G	167675223	3	3	151	1	0	0	0	0	1	0	0	0	10859	827	29	1	7358	1	ODZ2	5	167675223	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4765553	167675223	13240037	302	24935										
CCDC99	54908	genome.wustl.edu	37	chr5	169023670	169023670	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agaatggtgaaataaaacatCttttaggtgaaattagaaat	8	2	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:169023670C>G	ENST00000265295.4	+	8	1276	c.997C>G	c.(997-999)Ctt>Gtt	p.L333V		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AATAAAACATCTTTTAGGTGA	0.338																																																	0													62	66	65					5																	169023670		2203	4300	6503	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.997C>G	5.37:g.169023670C>G	ENSP00000265295:p.Leu333Val			Missense_Mutation	SNP	NULL	p.L333V	ENST00000265295.4	37	c.997	CCDS4370.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.414194|4.414194	0.83449|0.83449	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000265295;ENST00000274631|ENST00000505977	T|.	0.56444|.	0.46|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.996;0.997;0.997|.	T|T	0.74993|0.74993	-0.3474|-0.3474	10|5	0.36615|.	T|.	0.2|.	-8.753|-8.753	19.8077|19.8077	0.96536|0.96536	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	255;234;333|.	B4E393;Q96EA4-2;Q96EA4|.	.;.;SPDLY_HUMAN|.	V|C	333;234|253	ENSP00000265295:L333V|.	ENSP00000265295:L333V|.	L|S	+|+	1|2	0|0	CCDC99|CCDC99	168956248|168956248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.588000|6.588000	0.74076|0.74076	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	CTT|TCT	SPDL1	-	NULL		0.338	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	C	NM_017785		169023670	1	no_errors	ENST00000265295	ensembl	human	known	70_37	missense	SNP	1.000	G	G	169023670	C	G	169023670	3	3	151	1	0	0	0	0	1	0	0	0	2881	913	32	1	1023	1	CCDC99	5	169023670	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1348447	169023670	11891590	303	24936										
THOC3	84321	genome.wustl.edu	37	chr5	175395167	175395167	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccatcgagccggggccgctCtggcccaacgccgagggccc	15	18	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:175395167C>G	ENST00000265097.4	-	1	135	c.45G>C	c.(43-45)caG>caC	p.Q15H	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'Flank|THOC3_ENST00000513482.1_Missense_Mutation_p.Q15H	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	15					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)		CGGGGCCGCTCTGGCCCAACG	0.701																																																	0													7	9	8					5																	175395167		2038	4053	6091	SO:0001583	missense	84321			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.45G>C	5.37:g.175395167C>G	ENSP00000265097:p.Gln15His		Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q15H	ENST00000265097.4	37	c.45	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065391	0.20067	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.59906	0.23;0.29	4.17	2.4	0.29515	.	0.277770	0.19385	U	0.115559	T	0.28699	0.0711	N	0.08118	0	0.24564	N	0.993956	P;B	0.38922	0.651;0.072	B;B	0.34722	0.188;0.084	T	0.16335	-1.0406	10	0.13470	T	0.59	-8.6672	7.3096	0.26467	0.0:0.7935:0.0:0.2065	.	15;15	Q6NZ53;Q96J01	.;THOC3_HUMAN	H	15	ENSP00000265097:Q15H;ENSP00000422243:Q15H	ENSP00000265097:Q15H	Q	-	3	2	THOC3	175327773	0.003000	0.15002	0.994000	0.49952	0.052000	0.14988	0.099000	0.15210	0.409000	0.25649	-0.346000	0.07831	CAG	THOC3	-	NULL		0.701	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	C			175395167	-1	no_errors	ENST00000265097	ensembl	human	known	70_37	missense	SNP	0.941	G	G	175395167	C	G	175395167	3	3	151	1	0	0	0	0	1	0	0	0	15896	912	32	1	1034	1	THOC3	5	175395167	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6371497	175395167	5520093	304	24937										
SLC34A1	6569	genome.wustl.edu	37	chr5	176824801	176824801	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagattgccctctgtcacttCttcttcaacatctcgggtat	6	13	6	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176824801C>T	ENST00000324417.5	+	13	1525	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	478					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCACTTCTTCTTCAACA	0.612																																																	0													105	90	95					5																	176824801		2203	4300	6503	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1434C>T	5.37:g.176824801C>T			B4DPE3	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.F478	ENST00000324417.5	37	c.1434	CCDS4418.1	5																																																																																			SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.612	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824801	1	no_errors	ENST00000324417	ensembl	human	known	70_37	silent	SNP	1.000	T	T	176824801	C	T	176824801	2	4	151	1	0	0	0	0	0	0	0	1	14597	912	32	1		1	SLC34A1	5	176824801	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1429634	176824801	4090459	305	24938										
SLC34A1	6569	genome.wustl.edu	37	chr5	176824813	176824813	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtcacttcttcttcaacatCtcgggtatccttctgtggta	7	11	6	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176824813C>A	ENST00000324417.5	+	13	1537	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	482					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCAACATCTCGGGTATCC	0.627																																																	0													105	91	95					5																	176824813		2203	4300	6503	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1446C>A	5.37:g.176824813C>A			B4DPE3	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.I482	ENST00000324417.5	37	c.1446	CCDS4418.1	5																																																																																			SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824813	1	no_errors	ENST00000324417	ensembl	human	known	70_37	silent	SNP	1.000	A	A	176824813	C	A	176824813	2	1	151	1	0	0	0	0	0	0	0	1	14597	903	32	3		3	SLC34A1	5	176824813	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	12	176824813	4090447	306	24939										
SLC34A1	6569	genome.wustl.edu	37	chr5	176824930	176824930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccgtcctctatctccttgtCtgcttcctgctgctgccctc	7	18	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176824930C>T	ENST00000324417.5	+	13	1654	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	521					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTCCTTGTCTGCTTCCTGC	0.652																																																	0													148	124	132					5																	176824930		2203	4300	6503	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1563C>T	5.37:g.176824930C>T			B4DPE3	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.V521	ENST00000324417.5	37	c.1563	CCDS4418.1	5																																																																																			SLC34A1	-	tigrfam_Na/Pi_transpt		0.652	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824930	1	no_errors	ENST00000324417	ensembl	human	known	70_37	silent	SNP	0.962	T	T	176824930	C	T	176824930	2	4	151	1	0	0	0	0	0	0	0	1	14597	900	32	1		1	SLC34A1	5	176824930	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	117	176824930	4090330	307	24940										
F12	2161	genome.wustl.edu	37	chr5	176832361	176832361	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccagtgaggtgttgtggacaGagacagtgggggccgcttgg	19	7	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176832361G>A	ENST00000253496.3	-	5	408	c.360C>T	c.(358-360)ctC>ctT	p.L120L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	120	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GTTGTGGACAGAGACAGTGGG	0.602									Hereditary Angioedema																																								0													76	69	71					5																	176832361		2203	4300	6503	SO:0001819	synonymous_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.360C>T	5.37:g.176832361G>A			P78339	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.L120	ENST00000253496.3	37	c.360	CCDS34302.1	5																																																																																			F12	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom		0.602	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	G			176832361	-1	no_errors	ENST00000253496	ensembl	human	known	70_37	silent	SNP	0.999	A	A	176832361	G	A	176832361	2	1	151	1	0	0	0	0	0	0	0	1	5351	929	33	1		1	F12	5	176832361	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7431	176832361	4082899	308	24941										
ZFP2	80108	genome.wustl.edu	37	chr5	178358759	178358759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatcctcccttactgtacatCaaagaattcatactggagag	7	10	2	2	rs372828482		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:178358759C>G	ENST00000361362.2	+	5	975	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E	ZFP2_ENST00000523286.1_Missense_Mutation_p.Q149E|ZFP2_ENST00000503510.2_Missense_Mutation_p.Q149E|ZFP2_ENST00000520301.1_Missense_Mutation_p.Q149E	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TACTGTACATCAAAGAATTCA	0.413													C|||	1	0.000199681	8e-04	0	5008	,	,		19983	0		0	False		,,,				2504	0																0								C	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	52	55	54		445	3.8	1	5		54	0,8600		0,0,4300	no	missense	ZFP2	NM_030613.2	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	149/462	178358759	1,13005	2203	4300	6503	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.445C>G	5.37:g.178358759C>G	ENSP00000354453:p.Gln149Glu		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q149E	ENST00000361362.2	37	c.445	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	c	13.11	2.139169	0.37728	2.27E-4	0.0	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	4.71	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31312	N	0.007865	T	0.06508	0.0167	N	0.03209	-0.39	0.25061	N	0.991065	P	0.36048	0.534	B	0.32805	0.153	T	0.15954	-1.0419	10	0.62326	D	0.03	-10.966	6.7546	0.23505	0.0:0.7226:0.1797:0.0977	.	149	Q6ZN57	ZFP2_HUMAN	E	149	ENSP00000354453:Q149E;ENSP00000430980:Q149E;ENSP00000430531:Q149E;ENSP00000438114:Q149E	ENSP00000354453:Q149E	Q	+	1	0	ZFP2	178291365	0.000000	0.05858	1.000000	0.80357	0.725000	0.41563	0.219000	0.17641	2.425000	0.82216	0.591000	0.81541	CAA	ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	C	NM_030613		178358759	1	no_errors	ENST00000361362	ensembl	human	known	70_37	missense	SNP	0.998	G	G	178358759	C	G	178358759	3	3	151	1	0	0	0	0	1	0	0	0	17671	827	29	1	447	1	ZFP2	5	178358759	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1526398	178358759	2556501	309	24942										
GRM6	2916	genome.wustl.edu	37	chr5	178413374	178413374	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atgaggaagatgccggtgagGaggacgtagctgagctctcg	17	7	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:178413374G>C	ENST00000517717.1	-	9	1919	c.1881C>G	c.(1879-1881)ctC>ctG	p.L627L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.L627L			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	627					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCCGGTGAGGAGGACGTAGC	0.667																																																	0													54	48	50					5																	178413374		2203	4300	6503	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1881C>G	5.37:g.178413374G>C				Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.L627	ENST00000517717.1	37	c.1881	CCDS4442.1	5																																																																																			GRM6	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.667	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	G			178413374	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	silent	SNP	0.892	C	C	178413374	G	C	178413374	2	2	151	1	0	0	0	0	0	0	0	1	6821	1161	41	1		1	GRM6	5	178413374	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	54615	178413374	2501886	310	24943										
ZNF354C	30832	genome.wustl.edu	37	chr5	178505884	178505884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacaaatgatagattcgcatGagaaaaccatcagtgaagat	9	6	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:178505884G>A	ENST00000315475.6	+	5	757	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGATTCGCATGAGAAAACCAT	0.388																																																	0													93	98	97					5																	178505884		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.451G>A	5.37:g.178505884G>A	ENSP00000324064:p.Glu151Lys		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E151K	ENST00000315475.6	37	c.451	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	0.379	-0.929811	0.02359	.	.	ENSG00000177932	ENST00000315475	T	0.04758	3.56	3.74	-0.554	0.11811	.	.	.	.	.	T	0.01592	0.0051	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48917	-0.8992	9	0.10111	T	0.7	-1.6497	3.9164	0.09225	0.3092:0.4052:0.2856:0.0	.	151	Q86Y25	Z354C_HUMAN	K	151	ENSP00000324064:E151K	ENSP00000324064:E151K	E	+	1	0	ZNF354C	178438490	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.141000	0.10327	0.123000	0.18342	0.591000	0.81541	GAG	ZNF354C	-	NULL		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178505884	1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	0.000	A	A	178505884	G	A	178505884	3	1	151	1	0	0	0	0	1	0	0	0	17896	1291	45	1	465	1	ZNF354C	5	178505884	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	92510	178505884	2409376	311	24944										
GFPT2	9945	genome.wustl.edu	37	chr5	179743390	179743390	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccctgaacacaggtgtgttCctgtccagaaaatcactagc	8	12	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:179743390C>G	ENST00000253778.8	-	13	1393	c.1224G>C	c.(1222-1224)agG>agC	p.R408S	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	408	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CAGGTGTGTTCCTGTCCAGAA	0.507																																																	0													89	90	90					5																	179743390		2075	4224	6299	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1224G>C	5.37:g.179743390C>G	ENSP00000253778:p.Arg408Ser		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.R408S	ENST00000253778.8	37	c.1224	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000131459	ENST00000253778	T	0.63096	-0.02	5.89	2.81	0.32909	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72855	-0.4166	9	.	.	.	-33.0671	9.3235	0.37980	0.0:0.6393:0.0:0.3607	.	408	O94808	GFPT2_HUMAN	S	408	ENSP00000253778:R408S	.	R	-	3	2	GFPT2	179675996	0.983000	0.35010	1.000000	0.80357	0.992000	0.81027	0.148000	0.16224	0.845000	0.35118	-0.254000	0.11334	AGG	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans		0.507	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179743390	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179743390	C	G	179743390	3	3	151	1	0	0	0	0	1	0	0	0	6365	854	30	1	852	1	GFPT2	5	179743390	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1237506	179743390	1171870	312	24945										
GFPT2	9945	genome.wustl.edu	37	chr5	179743416	179743416	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagaaaatcactagcaagttCaaccatcacaggaagctcag	7	11	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:179743416C>T	ENST00000253778.8	-	13	1367	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	400	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTAGCAAGTTCAACCATCACA	0.502																																																	0													97	95	95					5																	179743416		2056	4217	6273	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1198G>A	5.37:g.179743416C>T	ENSP00000253778:p.Glu400Lys		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.E400K	ENST00000253778.8	37	c.1198	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.826037	0.96996	.	.	ENSG00000131459	ENST00000253778	T	0.65732	-0.17	5.89	5.89	0.94794	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88861	0.3326	9	.	.	.	-27.1074	20.2566	0.98424	0.0:1.0:0.0:0.0	.	400	O94808	GFPT2_HUMAN	K	400	ENSP00000253778:E400K	.	E	-	1	0	GFPT2	179676022	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.669000	0.83911	2.793000	0.96121	0.561000	0.74099	GAA	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans		0.502	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179743416	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179743416	C	T	179743416	3	4	151	1	0	0	0	0	1	0	0	0	6365	835	29	1	878	1	GFPT2	5	179743416	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	26	179743416	1171844	313	24946										
TRIM52	84851	genome.wustl.edu	37	chr5	180687439	180687439	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgatcttcctcttcttcttCttcctcctcgtcccacatat	2	17	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:180687439C>A	ENST00000327767.4	-	1	680	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	CTC-338M12.4_ENST00000417281.2_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	126	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TCTTCTTCTTCTTCCTCCTCG	0.453																																																	0													177	161	167					5																	180687439		2203	4300	6503	SO:0001587	stop_gained	84851				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.376G>T	5.37:g.180687439C>A	ENSP00000332152:p.Glu126*			Nonsense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E126*	ENST00000327767.4	37	c.376	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179555	0.78564	.	.	ENSG00000183718	ENST00000327767	.	.	.	3.12	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4183	0.44335	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	.	E	-	1	0	TRIM52	180620045	0.180000	0.23148	0.229000	0.23960	0.004000	0.04260	3.081000	0.50120	1.710000	0.51325	0.511000	0.50034	GAA	TRIM52	-	smart_Znf_RING		0.453	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	C	NM_032765		180687439	-1	no_errors	ENST00000327767	ensembl	human	known	70_37	nonsense	SNP	0.358	A	A	180687439	C	A	180687439	4	1	151	1	0	0	0	0	0	1	0	0	16558	922	32	3	525	3	TRIM52	5	180687439	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	944023	180687439	227821	314	24947										
EDN1	1906	genome.wustl.edu	37	chr6	12294300	12294300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caaaaagacaagaagtgctgGaatttttgccaagcaggaaa	10	6	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:12294300G>A	ENST00000379375.5	+	3	627	c.360G>A	c.(358-360)tgG>tgA	p.W120*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	120	Endothelin-like.				artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGAAGTGCTGGAATTTTTGCC	0.453																																																	0													89	80	83					6																	12294300		2203	4300	6503	SO:0001587	stop_gained	1906			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"Endogenous ligands"	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.360G>A	6.37:g.12294300G>A	ENSP00000368683:p.Trp120*		Q96DA1	Nonsense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.W120*	ENST00000379375.5	37	c.360	CCDS4522.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.158995	0.98103	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.86	5.86	0.93980	.	0.519299	0.21563	N	0.072527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-15.6786	16.4326	0.83859	0.0:0.1311:0.8689:0.0	.	.	.	.	X	120	.	ENSP00000368683:W120X	W	+	3	0	EDN1	12402286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.055000	0.64282	2.775000	0.95449	0.655000	0.94253	TGG	EDN1	-	smart_Endothln-like_toxin		0.453	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	G	NM_001955		12294300	1	no_errors	ENST00000379375	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	12294300	G	A	12294300	4	1	151	1	0	0	0	0	0	1	0	0	4926	1183	41	1	370	1	EDN1	6	12294300	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		12294300	158820767	315	24948										
JARID2	3720	genome.wustl.edu	37	chr6	15452293	15452293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcagccgaatagtcccagcaCaactccagtaaagatagtgg	9	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:15452293C>T	ENST00000341776.2	+	4	624	c.380C>T	c.(379-381)aCa>aTa	p.T127I	JARID2_ENST00000541660.1_Missense_Mutation_p.T89I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	127					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTCCCAGCACAACTCCAGTA	0.433																																																	0													93	89	90					6																	15452293		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.380C>T	6.37:g.15452293C>T	ENSP00000341280:p.Thr127Ile		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.T127I	ENST00000341776.2	37	c.380	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310562	0.81358	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.55052	0.54;1.34	5.4	5.4	0.78164	.	0.050119	0.85682	D	0.000000	T	0.56558	0.1993	L	0.34521	1.04	0.80722	D	1	D;P	0.89917	1.0;0.872	D;B	0.74674	0.984;0.323	T	0.57213	-0.7850	10	0.46703	T	0.11	-6.8882	19.1821	0.93628	0.0:1.0:0.0:0.0	.	89;127	F5H590;Q92833	.;JARD2_HUMAN	I	127;89	ENSP00000341280:T127I;ENSP00000444623:T89I	ENSP00000341280:T127I	T	+	2	0	JARID2	15560272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.455000	0.60075	2.513000	0.84729	0.655000	0.94253	ACA	JARID2	-	NULL		0.433	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	C	NM_004973		15452293	1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15452293	C	T	15452293	3	4	151	1	0	0	0	0	1	0	0	0	7965	478	17	4	394	4	JARID2	6	15452293	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3157993	15452293	155662774	316	24949										
C6orf62	81688	genome.wustl.edu	37	chr6	24716531	24716531	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggtataacctcagacacttCaaaaagtgctgactttttct	6	9	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:24716531C>T	ENST00000378119.4	-	2	2318	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	C6orf62_ENST00000378102.3_Missense_Mutation_p.E22K|C6orf62_ENST00000540769.1_5'UTR	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	51						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGACACTTCAAAAAGTGCT	0.373																																																	0													46	50	49					6																	24716531		2203	4300	6503	SO:0001583	missense	81688			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"HBV X-transactivated protein 12"					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.151G>A	6.37:g.24716531C>T	ENSP00000367359:p.Glu51Lys		Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	NULL	p.E51K	ENST00000378119.4	37	c.151	CCDS4559.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.131395	0.97310	.	.	ENSG00000112308	ENST00000378119;ENST00000378102	T;T	0.39229	1.09;1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.51498	-0.8698	10	0.87932	D	0	-13.9995	20.1133	0.97917	0.0:1.0:0.0:0.0	.	51	Q9GZU0	CF062_HUMAN	K	51;22	ENSP00000367359:E51K;ENSP00000367342:E22K	ENSP00000367342:E22K	E	-	1	0	C6orf62	24824510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.762000	0.94881	0.591000	0.81541	GAA	C6orf62	-	NULL		0.373	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf62	HGNC	protein_coding	OTTHUMT00000040017.1	C	NM_030939		24716531	-1	no_errors	ENST00000378119	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24716531	C	T	24716531	3	4	151	1	0	0	0	0	1	0	0	0	2373	835	29	1	554	1	C6orf62	6	24716531	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9264238	24716531	146398536	317	24950										
HIST1H3C	8352	genome.wustl.edu	37	chr6	26045930	26045930	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggcgctgcaggaggcttgtGaggcctacctggtgggactc	17	10	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26045930G>C	ENST00000540144.1	+	1	292	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGAGGCTTGTGAGGCCTACCT	0.577																																																	0													62	57	59					6																	26045930		2203	4300	6503	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.292G>C	6.37:g.26045930G>C	ENSP00000439493:p.Glu98Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98Q	ENST00000540144.1	37	c.292	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033097	0.54896	.	.	ENSG00000196532	ENST00000540144	T	0.78481	-1.18	4.38	4.38	0.52667	.	.	.	.	.	D	0.83585	0.5286	.	.	.	0.43467	D	0.995675	.	.	.	.	.	.	D	0.86112	0.1563	6	0.87932	D	0	.	16.8064	0.85706	0.0:0.0:1.0:0.0	.	.	.	.	Q	98	ENSP00000439493:E98Q	ENSP00000439493:E98Q	E	+	1	0	HIST1H3C	26153909	1.000000	0.71417	0.985000	0.45067	0.409000	0.31022	7.646000	0.83445	2.378000	0.81104	0.491000	0.48974	GAG	HIST1H3C	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.577	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	G	NM_003531		26045930	1	no_errors	ENST00000540144	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26045930	G	C	26045930	3	2	151	1	0	0	0	0	1	0	0	0	7177	1291	45	1	294	1	HIST1H3C	6	26045930	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1329399	26045930	145069137	318	24951										
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156771	26156771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actaaagctgttgccgcctcCaaggagcgcagcggcgtatc	12	13	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26156771C>T	ENST00000304218.3	+	1	213	c.153C>T	c.(151-153)tcC>tcT	p.S51S	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	51	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TTGCCGCCTCCAAGGAGCGCA	0.612																																																	0													24	28	27					6																	26156771		2203	4300	6503	SO:0001819	synonymous_variant	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.153C>T	6.37:g.26156771C>T			Q4VB25	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.S51	ENST00000304218.3	37	c.153	CCDS4586.1	6																																																																																			HIST1H1E	-	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5		0.612	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	C	NM_005321		26156771	1	no_errors	ENST00000304218	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26156771	C	T	26156771	2	4	151	1	0	0	0	0	0	0	0	1	7146	581	21	4		4	HIST1H1E	6	26156771	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	110841	26156771	144958296	319	24952										
BTN2A1	11120	genome.wustl.edu	37	chr6	26468258	26468258	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtgtgagaaggtgccccttCaggcacctaggggagagcgt	16	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26468258C>T	ENST00000312541.5	+	8	1313	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Silent_p.F294F|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GGTGCCCCTTCAGGCACCTAG	0.572																																																	0													108	105	106					6																	26468258		2203	4300	6503	SO:0001819	synonymous_variant	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1065C>T	6.37:g.26468258C>T			B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.F355	ENST00000312541.5	37	c.1065	CCDS4613.1	6																																																																																			BTN2A1	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY		0.572	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	C	NM_007049		26468258	1	no_errors	ENST00000312541	ensembl	human	known	70_37	silent	SNP	0.000	T	T	26468258	C	T	26468258	2	4	151	1	0	0	0	0	0	0	0	1	1563	825	29	1		1	BTN2A1	6	26468258	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	311487	26468258	144646809	320	24953										
ZKSCAN4	387032	genome.wustl.edu	37	chr6	28213016	28213016	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcaccagtgtggattttctGatgttcaataagacttctat	7	8	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:28213016G>A	ENST00000377294.2	-	5	1759	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	ZKSCAN4_ENST00000423974.2_Nonsense_Mutation_p.Q351*	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	506					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGGATTTTCTGATGTTCAATA	0.423																																																	0													120	116	117					6																	28213016		2203	4300	6503	SO:0001587	stop_gained	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1516C>T	6.37:g.28213016G>A	ENSP00000366509:p.Gln506*		B2RE32|Q5U7L4	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q506*	ENST00000377294.2	37	c.1516	CCDS4647.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.128588	0.94473	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	.	.	.	5.58	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.6381	0.68704	0.0:0.0:0.8485:0.1515	.	.	.	.	X	506;351	.	ENSP00000366509:Q506X	Q	-	1	0	ZKSCAN4	28320995	0.025000	0.19082	0.657000	0.29651	0.990000	0.78478	1.954000	0.40362	1.421000	0.47157	0.655000	0.94253	CAG	ZKSCAN4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	G	NM_019110		28213016	-1	no_errors	ENST00000377294	ensembl	human	known	70_37	nonsense	SNP	0.922	A	A	28213016	G	A	28213016	4	1	151	1	0	0	0	0	0	1	0	0	17719	1299	45	1	125	1	ZKSCAN4	6	28213016	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1744758	28213016	142902051	321	24954										
SCAND3	114821	genome.wustl.edu	37	chr6	28540724	28540724	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taatctgggttaccacttcaGaatgttttcctgtcattgaa	7	8	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:28540724G>C	ENST00000452236.2	-	4	3559	c.2942C>G	c.(2941-2943)tCt>tGt	p.S981C		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						taccacttcagaatgttttcc	0.353																																																	0													90	92	91					6																	28540724		2201	4298	6499	SO:0001583	missense	114821																														ENST00000452236.2:c.2942C>G	6.37:g.28540724G>C	ENSP00000395259:p.Ser981Cys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S981C	ENST00000452236.2	37	c.2942	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324012	0.41096	.	.	ENSG00000232040	ENST00000452236	T	0.22743	1.94	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.717270	0.11640	N	0.543893	T	0.29288	0.0729	M	0.75615	2.305	0.26718	N	0.970835	D	0.69078	0.997	D	0.79784	0.993	T	0.02837	-1.1104	10	0.87932	D	0	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	981	Q6R2W3	SCND3_HUMAN	C	981	ENSP00000395259:S981C	ENSP00000395259:S981C	S	-	2	0	SCAND3	28648703	0.702000	0.27816	0.997000	0.53966	0.998000	0.95712	2.318000	0.43779	1.507000	0.48752	0.561000	0.74099	TCT	SCAND3	-	superfamily_RNaseH-like_dom		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	G			28540724	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	missense	SNP	0.998	C	C	28540724	G	C	28540724	3	2	151	1	0	0	0	0	1	0	0	0	13906	942	33	1	1039	1	SCAND3	6	28540724	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	327708	28540724	142574343	322	24955										
HLA-A	3105	genome.wustl.edu	37	chr6	29912835	29912835	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggacattttcttctcacaGatagaaaaggagggagttac	10	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:29912835G>C	ENST00000396634.1	+	8	1353		c.e8-1		HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTCTCACAGATAGAAAAGG	0.502									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													91	104	99					6																	29912835		1510	2708	4218	SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.1013-1G>C	6.37:g.29912835G>C			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	-	e6-1	ENST00000396634.1	37	c.1031-1	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	g	7.918	0.738027	0.15574	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809	.	.	.	3.4	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.999804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4963	0.44778	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020814	0.021000	0.18746	0.009000	0.14445	0.016000	0.09150	1.233000	0.32648	1.908000	0.55244	0.485000	0.47835	.	HLA-A	-	-		0.502	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116	Intron	29912835	1	no_errors	ENST00000376806	ensembl	human	known	70_37	splice_site	SNP	0.013	C	C	29912835	G	C	29912835	5	2	151	1	0	0	0	0	0	0	1	0	7215	956	33	1	1034	1	HLA-A	6	29912835	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1372111	29912835	141202232	323	24956										
HLA-E	3133	genome.wustl.edu	37	chr6	30458199	30458199	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaagtcaaatgatgcctctGaggcggagcaccagagagcc	12	10	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30458199G>A	ENST00000376630.4	+	3	582	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	173	Alpha-2.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TGATGCCTCTGAGGCGGAGCA	0.582																																																	0													64	62	62					6																	30458199		1510	2709	4219	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.517G>A	6.37:g.30458199G>A	ENSP00000365817:p.Glu173Lys		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E173K	ENST00000376630.4	37	c.517	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	13.01	2.108214	0.37242	.	.	ENSG00000204592	ENST00000376630	T	0.00010	9.44	1.67	0.729	0.18266	.	6.075450	0.01049	U	0.004421	T	0.00073	0.0002	M	0.75777	2.31	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.79784	0.807;0.993	T	0.50406	-0.8832	10	0.16420	T	0.52	.	5.0777	0.14640	0.0:0.0:0.6512:0.3488	.	214;173	E7ENN9;Q6DU44	.;.	K	173	ENSP00000365817:E173K	ENSP00000365817:E173K	E	+	1	0	HLA-E	30566178	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.395000	0.07287	0.238000	0.21222	-0.521000	0.04368	GAG	HLA-E	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	HGNC	protein_coding	OTTHUMT00000076282.2	G	NM_005516		30458199	1	no_errors	ENST00000376630	ensembl	human	known	70_37	missense	SNP	0.002	A	A	30458199	G	A	30458199	3	1	151	1	0	0	0	0	1	0	0	0	7230	1291	45	1	527	1	HLA-E	6	30458199	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	545364	30458199	140656868	324	24957										
GNL1	2794	genome.wustl.edu	37	chr6	30522370	30522370	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actggatgtcggatatcagtGataagcaggacgatgtcaga	13	6	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30522370G>A	ENST00000376621.3	-	5	1552	c.582C>T	c.(580-582)atC>atT	p.I194I	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	194	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGATATCAGTGATAAGCAGGA	0.502																																																	0													108	111	110					6																	30522370		1511	2709	4220	SO:0001819	synonymous_variant	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.582C>T	6.37:g.30522370G>A			B0S838|Q96CT5	Silent	SNP	pfam_GTP_binding_domain	p.I194	ENST00000376621.3	37	c.582	CCDS4680.1	6																																																																																			GNL1	-	NULL		0.502	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	G			30522370	-1	no_errors	ENST00000376621	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30522370	G	A	30522370	2	1	151	1	0	0	0	0	0	0	0	1	6554	1280	45	1		1	GNL1	6	30522370	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	64171	30522370	140592697	325	24958										
PPP1R10	5514	genome.wustl.edu	37	chr6	30571789	30571789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accccactctgctcacctctCcttgttcaggaagagctcct	6	17	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30571789C>T	ENST00000376511.2	-	14	2056	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	502	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCTCACCTCTCCTTGTTCAGG	0.542																																																	0													103	114	110					6																	30571789		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1504G>A	6.37:g.30571789C>T	ENSP00000365694:p.Glu502Lys		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.E502K	ENST00000376511.2	37	c.1504	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912455	0.72983	.	.	ENSG00000204569	ENST00000376511	T	0.59224	0.28	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	L	0.53249	1.67	0.58432	D	0.999995	D	0.63880	0.993	D	0.72625	0.978	T	0.69785	-0.5051	10	0.72032	D	0.01	.	16.5979	0.84801	0.0:1.0:0.0:0.0	.	502	Q96QC0	PP1RA_HUMAN	K	502	ENSP00000365694:E502K	ENSP00000365694:E502K	E	-	1	0	PPP1R10	30679768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.871000	0.75531	2.427000	0.82271	0.467000	0.42956	GAG	PPP1R10	-	NULL		0.542	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30571789	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30571789	C	T	30571789	3	4	151	1	0	0	0	0	1	0	0	0	12379	864	30	1	1346	1	PPP1R10	6	30571789	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	49419	30571789	140543278	326	24959										
PPP1R10	5514	genome.wustl.edu	37	chr6	30571825	30571825	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcctgaaggattcccttctCccgctcagcctggatatatc	7	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30571825C>G	ENST00000376511.2	-	14	2020	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	490	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATTCCCTTCTCCCGCTCAGCC	0.592																																																	0													100	111	107					6																	30571825		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1468G>C	6.37:g.30571825C>G	ENSP00000365694:p.Glu490Gln		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.E490Q	ENST00000376511.2	37	c.1468	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466310	0.43839	.	.	ENSG00000204569	ENST00000376511	T	0.37584	1.19	4.71	4.71	0.59529	.	0.050925	0.85682	D	0.000000	T	0.36744	0.0978	M	0.62723	1.935	0.58432	D	0.999997	D	0.55172	0.97	P	0.49140	0.601	T	0.38457	-0.9660	10	0.87932	D	0	-22.7957	16.5979	0.84801	0.0:1.0:0.0:0.0	.	490	Q96QC0	PP1RA_HUMAN	Q	490	ENSP00000365694:E490Q	ENSP00000365694:E490Q	E	-	1	0	PPP1R10	30679804	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.871000	0.75531	2.427000	0.82271	0.467000	0.42956	GAG	PPP1R10	-	NULL		0.592	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30571825	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30571825	C	G	30571825	3	3	151	1	0	0	0	0	1	0	0	0	12379	864	30	1	1382	1	PPP1R10	6	30571825	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	36	30571825	140543242	327	24960										
PPP1R10	5514	genome.wustl.edu	37	chr6	30573986	30573986	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actgtgctggcattcttcttCacaggcaccaaggatggtgt	11	10	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30573986C>T	ENST00000376511.2	-	9	1221	c.669G>A	c.(667-669)gtG>gtA	p.V223V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	223	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CATTCTTCTTCACAGGCACCA	0.522																																																	0													119	104	109					6																	30573986		1511	2709	4220	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.669G>A	6.37:g.30573986C>T			O00405	Silent	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.V223	ENST00000376511.2	37	c.669	CCDS4681.1	6																																																																																			PPP1R10	-	NULL		0.522	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30573986	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	silent	SNP	0.999	T	T	30573986	C	T	30573986	2	4	151	1	0	0	0	0	0	0	0	1	12379	813	29	1		1	PPP1R10	6	30573986	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2161	30573986	140541081	328	24961										
PPP1R10	5514	genome.wustl.edu	37	chr6	30576637	30576637	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggggaatgttgttggttgtCtttgaatacgtcagccaatt	12	5	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30576637C>G	ENST00000376511.2	-	5	801	c.249G>C	c.(247-249)aaG>aaC	p.K83N	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	83	Interaction with TOX4. {ECO:0000250}.|TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGTTGGTTGTCTTTGAATACG	0.453																																																	0													151	144	147					6																	30576637		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.249G>C	6.37:g.30576637C>G	ENSP00000365694:p.Lys83Asn		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.K83N	ENST00000376511.2	37	c.249	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068999	0.55539	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.51817	0.69	6.17	6.17	0.99709	Transcription factor IIS, N-terminal (3);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.046995	0.85682	D	0.000000	T	0.48909	0.1526	L	0.46157	1.445	0.44611	D	0.997589	D	0.71674	0.998	P	0.59761	0.863	T	0.45175	-0.9279	10	0.51188	T	0.08	-19.0413	13.5813	0.61905	0.0:0.9262:0.0:0.0738	.	83	Q96QC0	PP1RA_HUMAN	N	83	ENSP00000365694:K83N	ENSP00000365694:K83N	K	-	3	2	PPP1R10	30684616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.534000	0.36051	2.941000	0.99782	0.655000	0.94253	AAG	PPP1R10	-	superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub		0.453	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30576637	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30576637	C	G	30576637	3	3	151	1	0	0	0	0	1	0	0	0	12379	912	32	1	2637	1	PPP1R10	6	30576637	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2651	30576637	140538430	329	24962										
MDC1	9656	genome.wustl.edu	37	chr6	30681690	30681690	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccgggagacaaagggcagaGagacatccaggcgatggtac	15	10	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30681690G>C	ENST00000376406.3	-	3	1054	c.407C>G	c.(406-408)tCt>tGt	p.S136C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S136C|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	136	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AAAGGGCAGAGAGACATCCAG	0.562								Other conserved DNA damage response genes																																									0													70	76	74					6																	30681690		1511	2709	4220	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.407C>G	6.37:g.30681690G>C	ENSP00000365588:p.Ser136Cys		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S136C	ENST00000376406.3	37	c.407	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116173	0.37339	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797;ENST00000452213;ENST00000416571	T;T	0.03035	4.15;4.07	5.68	4.8	0.61643	SMAD/FHA domain (1);	0.407023	0.18286	N	0.145882	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	P;P;P	0.49447	0.924;0.785;0.906	P;B;B	0.46452	0.517;0.42;0.319	T	0.48917	-0.8992	10	0.54805	T	0.06	-5.2312	12.6173	0.56584	0.0:0.1665:0.8335:0.0	.	136;8;136	Q14676-2;B4DYH4;Q14676	.;.;MDC1_HUMAN	C	136;136;136;8;136;136;136	ENSP00000365588:S136C;ENSP00000365587:S136C	ENSP00000365587:S136C	S	-	2	0	MDC1	30789669	0.019000	0.18553	0.003000	0.11579	0.107000	0.19398	1.640000	0.37186	1.373000	0.46208	0.650000	0.86243	TCT	MDC1	-	superfamily_SMAD_FHA_domain		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30681690	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.013	C	C	30681690	G	C	30681690	3	2	151	1	0	0	0	0	1	0	0	0	9426	942	33	1	5914	1	MDC1	6	30681690	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	105053	30681690	140433377	330	24963										
HLA-B	3106	genome.wustl.edu	37	chr6	31323241	31323241	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccacaagctcagtgtcctGagtttggtcctcgccatccc	8	16	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31323241G>A	ENST00000412585.2	-	4	776	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													112	98	102					6																	31323241		2203	4300	6503	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.748C>T	6.37:g.31323241G>A	ENSP00000399168:p.Gln250*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.Q250*	ENST00000412585.2	37	c.748	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	12.13	1.844719	0.32606	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	0.000000	0.39834	U	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	.	.	.	X	250;129;129	.	ENSP00000399168:Q250X	Q	-	1	0	HLA-B	31431220	0.998000	0.40836	0.983000	0.44433	0.035000	0.12851	3.446000	0.52928	1.804000	0.52760	0.442000	0.29010	CAG	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31323241	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.967	A	A	31323241	G	A	31323241	4	1	151	1	0	0	0	0	0	1	0	0	7216	1299	45	1	356	1	HLA-B	6	31323241	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	641551	31323241	139791826	331	24964										
BAT2	7916	genome.wustl.edu	37	chr6	31603372	31603372	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcccaggccattcctgtatCacgagactgggagctgcttc	10	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31603372C>G	ENST00000376033.2	+	24	5621	c.5387C>G	c.(5386-5388)tCa>tGa	p.S1796*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.S1796*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1796	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATTCCTGTATCACGAGACTGG	0.607																																																	0													62	72	68					6																	31603372		1511	2709	4220	SO:0001587	stop_gained	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5387C>G	6.37:g.31603372C>G	ENSP00000365201:p.Ser1796*		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.S1796*	ENST00000376033.2	37	c.5387	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	45	12.029779	0.99629	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.4	4.51	0.55191	.	0.489229	0.19347	N	0.116481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.8642	13.3639	0.60671	0.0:0.8417:0.1583:0.0	.	.	.	.	X	1790;1779;1796;1796;1021	.	ENSP00000365175:S1796X	S	+	2	0	PRRC2A	31711351	0.704000	0.27836	0.707000	0.30419	0.395000	0.30598	2.196000	0.42686	1.476000	0.48215	0.561000	0.74099	TCA	PRRC2A	-	NULL		0.607	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	C	NM_080686		31603372	1	no_errors	ENST00000376007	ensembl	human	known	70_37	nonsense	SNP	0.910	G	G	31603372	C	G	31603372	4	3	151	1	0	0	0	0	0	1	0	0	1320	838	29	1	5477	1	BAT2	6	31603372	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	280131	31603372	139511695	332	24965										
BAT3	7917	genome.wustl.edu	37	chr6	31610002	31610002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccccagggagcccagcaggGagctgagcacaccctgcacc	12	18	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31610002G>A	ENST00000375964.6	-	15	2445	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	BAG6_ENST00000211379.5_Missense_Mutation_p.S705F|BAG6_ENST00000375976.4_Missense_Mutation_p.S705F|BAG6_ENST00000362049.6_Missense_Mutation_p.S705F|BAG6_ENST00000404765.2_Missense_Mutation_p.S741F|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000439687.2_Missense_Mutation_p.S579F	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	711					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GCCCAGCAGGGAGCTGAGCAC	0.607																																																	0													35	35	35					6																	31610002		1509	2709	4218	SO:0001583	missense	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2132C>T	6.37:g.31610002G>A	ENSP00000365131:p.Ser711Phe		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S741F	ENST00000375964.6	37	c.2222	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652354	0.88056	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771	T;T;T;T;T;T;T	0.55052	1.47;1.47;1.47;1.47;1.47;1.47;0.54	5.75	5.75	0.90469	.	0.052788	0.85682	D	0.000000	T	0.59169	0.2174	L	0.36672	1.1	0.52501	D	0.999955	D;D;D;D	0.71674	0.995;0.997;0.996;0.998	P;D;D;D	0.79108	0.795;0.931;0.982;0.992	T	0.61252	-0.7100	10	0.66056	D	0.02	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	579;705;711;705	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	F	705;711;705;741;579;705;741	ENSP00000365143:S705F;ENSP00000365131:S711F;ENSP00000211379:S705F;ENSP00000384494:S741F;ENSP00000402856:S579F;ENSP00000354875:S705F;ENSP00000397978:S741F	ENSP00000211379:S705F	S	-	2	0	BAG6	31717981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.940000	0.87693	2.731000	0.93534	0.650000	0.86243	TCC	BAG6	-	NULL		0.607	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		G	NM_080703		31610002	-1	no_errors	ENST00000404765	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31610002	G	A	31610002	3	1	151	1	0	0	0	0	1	0	0	0	1323	1174	41	1	1310	1	BAT3	6	31610002	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6630	31610002	139505065	333	24966										
VARS	7407	genome.wustl.edu	37	chr6	31749935	31749935	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgatggccccaccacagctGcctggaaatgcaccactccc	9	18	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31749935G>A	ENST00000375663.3	-	18	2610	c.2170C>T	c.(2170-2172)Cag>Tag	p.Q724*	VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	724					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACCACAGCTGCCTGGAAATG	0.647																																																	0													46	49	48					6																	31749935		2203	4300	6503	SO:0001587	stop_gained	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2170C>T	6.37:g.31749935G>A	ENSP00000364815:p.Gln724*		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.Q724*	ENST00000375663.3	37	c.2170	CCDS34412.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.723197|5.723197	0.96847|0.96847	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000428445|ENST00000375663	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70789|.	0.3264|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75502|.	-0.3295|.	4|.	.|0.87932	.|D	.|0	-24.1742|-24.1742	16.0132|16.0132	0.80417|0.80417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	41|724	.|.	.|ENSP00000364815:Q724X	A|Q	-|-	2|1	0|0	VARS|VARS	31857914|31857914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.848000|8.848000	0.92172|0.92172	2.373000|2.373000	0.80994|0.80994	0.563000|0.563000	0.77884|0.77884	GCA|CAG	VARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase		0.647	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	G	NM_006295		31749935	-1	no_errors	ENST00000375663	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31749935	G	A	31749935	4	1	151	1	0	0	0	0	0	1	0	0	17154	1328	46	4	1676	4	VARS	6	31749935	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	139933	31749935	139365132	334	24967										
EHMT2	10919	genome.wustl.edu	37	chr6	31850709	31850709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acccggttcttgcagtttctCcagcatgagcacgcctggtt	10	13	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31850709C>G	ENST00000375537.4	-	24	3078	c.3072G>C	c.(3070-3072)tgG>tgC	p.W1024C	EHMT2_ENST00000480912.1_5'UTR|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Missense_Mutation_p.W990C|EHMT2_ENST00000375528.4_Missense_Mutation_p.W1047C|EHMT2_ENST00000395728.3_Missense_Mutation_p.W1081C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1024	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGCAGTTTCTCCAGCATGAGC	0.587																																																	0													75	74	74					6																	31850709		1511	2709	4220	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3072G>C	6.37:g.31850709C>G	ENSP00000364687:p.Trp1024Cys		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.W1081C	ENST00000375537.4	37	c.3243	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871348	0.51695	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.24	4.24	0.50183	Pre-SET domain (2);	0.226724	0.39759	N	0.001268	D	0.90198	0.6936	L	0.42245	1.32	0.58432	D	0.999992	D;D;D;D	0.89917	0.993;0.998;1.0;1.0	P;D;D;D	0.73380	0.635;0.945;0.98;0.98	D	0.91191	0.4984	10	0.59425	D	0.04	.	15.5858	0.76482	0.0:1.0:0.0:0.0	.	1047;990;1024;845	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	C	1081;1047;990;1024;845	ENSP00000379078:W1081C;ENSP00000364678:W1047C;ENSP00000364680:W990C;ENSP00000364687:W1024C	ENSP00000364678:W1047C	W	-	3	0	EHMT2	31958688	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.921000	0.40035	2.201000	0.70794	0.561000	0.74099	TGG	EHMT2	-	pfam_Pre-SET_dom,pfscan_Pre-SET_dom		0.587	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	C	NM_006709		31850709	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31850709	C	G	31850709	3	3	151	1	0	0	0	0	1	0	0	0	4994	856	30	1	580	1	EHMT2	6	31850709	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	100774	31850709	139264358	335	24968										
HLA-DQB1	3119	genome.wustl.edu	37	chr6	32629155	32629155	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctttgacggatgataaggccCagcccaaggaagatcagccc	11	12	1	3	rs1130431	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:32629155C>A	ENST00000399084.1	-	5	919	c.741G>T	c.(739-741)ctG>ctT	p.L247L	HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000374943.4_Silent_p.L247L|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000434651.2_Silent_p.L247L			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	247					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TGATAAGGCCCAGCCCAAGGA	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	1368	0.273163	0.2821	0.196	5008	,	,		12357	0.3254		0.2485	False		,,,				2504	0.2873				Esophageal Squamous(151;720 1825 15000 40336 43415)												0								C		1110,2826		383,344,1241	34	30	31		741	-1.8	0.1	6	dbSNP_130	31	1989,5829		704,581,2624	no	coding-synonymous	HLA-DQB1	NM_002123.4		1087,925,3865	AA,AC,CC		25.4413,28.2012,26.3655		247/262	32629155	3099,8655	1968	3909	5877	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.741G>T	6.37:g.32629155C>A			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.L247	ENST00000399084.1	37	c.741	CCDS43451.1	6																																																																																			HLA-DQB1	-	NULL		0.562	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276127.1	C	NM_002123		32629155	-1	no_errors	ENST00000374943	ensembl	human	known	70_37	silent	SNP	0.219	A	A	32629155	C	A	32629155	2	1	151	1	0	0	0	0	0	0	0	1	7226	581	21	4		4	HLA-DQB1	6	32629155	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	778446	32629155	138485912	336	24969										
C6orf64	55776	genome.wustl.edu	37	chr6	39082734	39082734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaccgctttagccagcctggGgctgcctttagagtcgctgc	12	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39082734G>A	ENST00000229903.4	-	1	231	c.132C>T	c.(130-132)gcC>gcT	p.A44A	SAYSD1_ENST00000481599.1_5'UTR	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	44	Ala-rich.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											GCCAGCCTGGGGCTGCCTTTA	0.662																																																	0													33	38	36					6																	39082734		2203	4300	6503	SO:0001819	synonymous_variant	55776			BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 64"	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.132C>T	6.37:g.39082734G>A			Q9H0D8	Silent	SNP	pfam_Uncharacterised_SAYSvFN	p.A44	ENST00000229903.4	37	c.132	CCDS4840.1	6																																																																																			SAYSD1	-	NULL		0.662	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SAYSD1	HGNC	protein_coding	OTTHUMT00000040448.1	G	NM_018322		39082734	-1	no_errors	ENST00000229903	ensembl	human	known	70_37	silent	SNP	0.459	A	A	39082734	G	A	39082734	2	1	151	1	0	0	0	0	0	0	0	1	2374	1219	43	4		4	C6orf64	6	39082734	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6453579	39082734	132032333	337	24970										
KIF6	221458	genome.wustl.edu	37	chr6	39563909	39563909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctactccagtctttgcaactCgctctgaaccagccaggtca	7	15	3	1	rs537999500		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39563909C>T	ENST00000287152.7	-	7	861	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	KIF6_ENST00000373216.3_Missense_Mutation_p.R256Q|KIF6_ENST00000538893.1_Missense_Mutation_p.R256Q|KIF6_ENST00000373213.4_Missense_Mutation_p.R95Q|KIF6_ENST00000373215.3_Missense_Mutation_p.R256Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTTGCAACTCGCTCTGAACC	0.468													C|||	1	0.000199681	0	0	5008	,	,		14067	0		0	False		,,,				2504	0.001																0													120	109	113					6																	39563909		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.767G>A	6.37:g.39563909C>T	ENSP00000287152:p.Arg256Gln		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R256Q	ENST00000287152.7	37	c.767	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508622|5.508622	0.96386|0.96386	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	.|T;T;T;T;T;T	.|0.79033	.|-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Kinesin, motor domain (5);	.|.	.|.	.|.	.|.	D|D	0.92815|0.92815	0.7715|0.7715	H|H	0.98466|0.98466	4.24|4.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.995;0.998;0.998;0.996	D|D	0.94848|0.94848	0.8011|0.8011	5|9	.|0.87932	.|D	.|0	.|.	18.2312|18.2312	0.89936|0.89936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|256;256;256;256	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	K|Q	148|256;256;95;256;256;43;47	.|ENSP00000287152:R256Q;ENSP00000362312:R256Q;ENSP00000362309:R95Q;ENSP00000362311:R256Q;ENSP00000441435:R256Q;ENSP00000404856:R43Q	.|ENSP00000287152:R256Q	E|R	-|-	1|2	0|0	KIF6|KIF6	39671887|39671887	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.869000|0.869000	0.49853|0.49853	7.729000|7.729000	0.84864|0.84864	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GAG|CGA	KIF6	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.468	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	C	NM_145027		39563909	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39563909	C	T	39563909	3	4	151	1	0	0	0	0	1	0	0	0	8328	884	31	1	1745	1	KIF6	6	39563909	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	481175	39563909	131551158	338	24971										
DAAM2	23500	genome.wustl.edu	37	chr6	39847006	39847006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggcccactcaccttgtcttCctcaatgacaaccaatgacc	6	16	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39847006C>T	ENST00000398904.2	+	14	1780	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	DAAM2_ENST00000274867.4_Missense_Mutation_p.S533F|DAAM2_ENST00000538976.1_Missense_Mutation_p.S533F|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	533	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCTTGTCTTCCTCAATGACA	0.612																																																	0													26	29	28					6																	39847006		1771	3858	5629	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1598C>T	6.37:g.39847006C>T	ENSP00000381876:p.Ser533Phe		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S533F	ENST00000398904.2	37	c.1598	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868856	0.51588	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.26810	1.71;1.71;1.71	4.15	4.15	0.48705	.	0.445732	0.20754	N	0.086287	T	0.10895	0.0266	L	0.29908	0.895	0.80722	D	1	B;B	0.32467	0.372;0.255	B;B	0.27170	0.077;0.035	T	0.08617	-1.0713	10	0.59425	D	0.04	.	16.1828	0.81921	0.0:1.0:0.0:0.0	.	533;533	G5EA45;Q86T65	.;DAAM2_HUMAN	F	533	ENSP00000274867:S533F;ENSP00000381876:S533F;ENSP00000437808:S533F	ENSP00000274867:S533F	S	+	2	0	DAAM2	39954984	0.994000	0.37717	0.997000	0.53966	0.740000	0.42216	3.203000	0.51075	2.125000	0.65367	0.305000	0.20034	TCC	DAAM2	-	NULL		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	C			39847006	1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	0.950	T	T	39847006	C	T	39847006	3	4	151	1	0	0	0	0	1	0	0	0	4221	855	30	1	1648	1	DAAM2	6	39847006	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	283097	39847006	131268061	339	24972										
DAAM2	23500	genome.wustl.edu	37	chr6	39856471	39856471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttaggttgaagctttctaacGaggagatccggcaggccatc	12	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39856471G>A	ENST00000398904.2	+	17	2259	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.E693K|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.E693K|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	693	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTTTCTAACGAGGAGATCCG	0.547																																																	0													99	101	101					6																	39856471		2016	4170	6186	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2077G>A	6.37:g.39856471G>A	ENSP00000381876:p.Glu693Lys		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E693K	ENST00000398904.2	37	c.2077	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.585281	0.96578	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.18657	2.2;2.2;2.2	5.59	5.59	0.84812	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.186921	0.45867	D	0.000332	T	0.26011	0.0634	M	0.76938	2.355	0.80722	D	1	B;P	0.47910	0.048;0.902	B;P	0.45946	0.005;0.498	T	0.04481	-1.0948	10	0.52906	T	0.07	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	693;693	G5EA45;Q86T65	.;DAAM2_HUMAN	K	693	ENSP00000274867:E693K;ENSP00000381876:E693K;ENSP00000437808:E693K	ENSP00000274867:E693K	E	+	1	0	DAAM2	39964449	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	9.548000	0.98103	2.635000	0.89317	0.655000	0.94253	GAG	DAAM2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	G			39856471	1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39856471	G	A	39856471	3	1	151	1	0	0	0	0	1	0	0	0	4221	1059	37	1	2139	1	DAAM2	6	39856471	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9465	39856471	131258596	340	24973										
KLHDC3	116138	genome.wustl.edu	37	chr6	42986399	42986399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aatggggagctgtacatcttTggtggttataatgcaaggct	13	5	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:42986399T>C	ENST00000326974.4	+	7	957	c.762T>C	c.(760-762)ttT>ttC	p.F254F	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Silent_p.F120F|KLHDC3_ENST00000332245.8_Silent_p.F195F	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	254					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTACATCTTTGGTGGTTATA	0.488																																																	0													225	229	228					6																	42986399		2203	4300	6503	SO:0001819	synonymous_variant	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.762T>C	6.37:g.42986399T>C			A8K2W9	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.F254	ENST00000326974.4	37	c.762	CCDS4880.1	6																																																																																			KLHDC3	-	pfam_Kelch_1		0.488	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	T	NM_057161		42986399	1	no_errors	ENST00000326974	ensembl	human	known	70_37	silent	SNP	1.000	C	C	42986399	T	C	42986399	2	2	151	1	0	0	0	0	0	0	0	1	8377	1809	63	5		5	KLHDC3	6	42986399	Silent	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	3129928	42986399	128128668	341	24974										
TTBK1	84630	genome.wustl.edu	37	chr6	43221331	43221331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaacctggccgacctgcgccGtagccagccgcgaggcacct	13	17	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:43221331G>A	ENST00000259750.4	+	5	439	c.356G>A	c.(355-357)cGt>cAt	p.R119H	TTBK1_ENST00000304139.5_Missense_Mutation_p.R68H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GACCTGCGCCGTAGCCAGCCG	0.627																																																	0													43	37	39					6																	43221331		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.356G>A	6.37:g.43221331G>A	ENSP00000259750:p.Arg119His		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.R119H	ENST00000259750.4	37	c.356	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.315125	0.95655	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.66460	-0.21	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.73598	2.24	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.81831	-0.0752	10	0.87932	D	0	.	16.6119	0.84885	0.0:0.0:1.0:0.0	.	119	Q5TCY1	TTBK1_HUMAN	H	68;119;68	ENSP00000259750:R119H	ENSP00000259750:R119H	R	+	2	0	TTBK1	43329309	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.392000	0.97252	2.205000	0.71048	0.462000	0.41574	CGT	TTBK1	-	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		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43221331	1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43221331	G	A	43221331	3	1	151	1	0	0	0	0	1	0	0	0	16707	1145	40	2	370	2	TTBK1	6	43221331	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	234932	43221331	127893736	342	24975										
ABCC10	89845	genome.wustl.edu	37	chr6	43410728	43410728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaaaggagctctatctcctCgatgaccctctggccgctgt	10	13	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:43410728C>T	ENST00000372530.4	+	10	2462	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ABCC10_ENST00000244533.3_Silent_p.L721L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	749	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L721L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTATCTCCTCGATGACCCTC	0.582																																																	1	Substitution - coding silent(1)	lung(1)											78	65	70					6																	43410728		2203	4300	6503	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2247C>T	6.37:g.43410728C>T			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L749	ENST00000372530.4	37	c.2247	CCDS56430.1	6																																																																																			ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.582	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43410728	1	no_errors	ENST00000372530	ensembl	human	known	70_37	silent	SNP	0.001	T	T	43410728	C	T	43410728	2	4	151	1	0	0	0	0	0	0	0	1	50	871	31	1		1	ABCC10	6	43410728	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	189397	43410728	127704339	343	24976										
YIPF3	25844	genome.wustl.edu	37	chr6	43483440	43483440	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttttcccagcctgccacatCtgaagtaaggaagatgggca	10	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:43483440C>T	ENST00000372422.2	-	3	471		c.e3-1		YIPF3_ENST00000506469.1_Splice_Site|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3						cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCTGCCACATCTGAAGTAAGG	0.488																																																	0													77	73	74					6																	43483440		2203	4300	6503	SO:0001630	splice_region_variant	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.289-1G>A	6.37:g.43483440C>T			Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Splice_Site	SNP	-	e3-1	ENST00000372422.2	37	c.289-1	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108133	0.77096	.	.	ENSG00000137207	ENST00000372422;ENST00000506469;ENST00000503972;ENST00000511831	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2602	0.90033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YIPF3	43591418	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.397000	0.79903	2.758000	0.94735	0.460000	0.39030	.	YIPF3	-	-		0.488	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	C	NM_015388	Intron	43483440	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	43483440	C	T	43483440	5	4	151	1	0	0	0	0	0	0	1	0	17510	927	32	1	792	1	YIPF3	6	43483440	Splice_Site	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	72712	43483440	127631627	344	24977										
RUNX2	860	genome.wustl.edu	37	chr6	45390610	45390610	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccgaccacccggccgaactCgtccgcaccgacagccccaa	9	21	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:45390610C>G	ENST00000371438.1	+	2	697	c.339C>G	c.(337-339)ctC>ctG	p.L113L	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.L113L|RUNX2_ENST00000541979.1_Silent_p.L181L|RUNX2_ENST00000371432.3_Silent_p.L99L|RUNX2_ENST00000371436.6_Silent_p.L113L|RUNX2_ENST00000465038.2_Silent_p.L113L|RUNX2_ENST00000359524.5_Silent_p.L99L|RUNX2_ENST00000352853.5_Silent_p.L181L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	113	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		L -> R (in CLCD). {ECO:0000269|PubMed:10521292}.		BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCCGAACTCGTCCGCACCG	0.701																																																	0													36	38	37					6																	45390610		2203	4299	6502	SO:0001819	synonymous_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.339C>G	6.37:g.45390610C>G			O14614|O14615|O95181	Silent	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L181	ENST00000371438.1	37	c.543	CCDS43467.2	6																																																																																			RUNX2	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt		0.701	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	C	NM_004348		45390610	1	no_errors	ENST00000352853	ensembl	human	known	70_37	silent	SNP	0.988	G	G	45390610	C	G	45390610	2	3	151	1	0	0	0	0	0	0	0	1	13778	871	31	1		1	RUNX2	6	45390610	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1907170	45390610	125724457	345	24978										
TDRD6	221400	genome.wustl.edu	37	chr6	46658902	46658902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caagaaatgcaaatattttaGaacagttgtcatgtagtatt	7	4	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:46658902G>A	ENST00000316081.6	+	1	3037	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E1013K	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1013					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAATATTTTAGAACAGTTGTC	0.338																																																	0													47	51	50					6																	46658902		2203	4299	6502	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3037G>A	6.37:g.46658902G>A	ENSP00000346065:p.Glu1013Lys		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E1013K	ENST00000316081.6	37	c.3037	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585280	0.28268	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11712	2.75;2.75	5.36	4.49	0.54785	Maternal tudor protein (1);	0.404404	0.29152	N	0.012990	T	0.05456	0.0144	L	0.47078	1.49	0.28117	N	0.930766	B;B	0.25048	0.095;0.117	B;B	0.35278	0.126;0.199	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.6185	10.904	0.47069	0.0717:0.1304:0.7979:0.0	.	1013;1013	F5H5M3;O60522	.;TDRD6_HUMAN	K	1013	ENSP00000443299:E1013K;ENSP00000346065:E1013K	ENSP00000346065:E1013K	E	+	1	0	TDRD6	46766861	1.000000	0.71417	0.977000	0.42913	0.603000	0.37013	3.960000	0.56752	1.252000	0.44001	0.655000	0.94253	GAA	TDRD6	-	pfam_Tudor		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46658902	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.567	A	A	46658902	G	A	46658902	3	1	151	1	0	0	0	0	1	0	0	0	15764	943	33	1	3039	1	TDRD6	6	46658902	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1268292	46658902	124456165	346	24979										
TFAP2D	83741	genome.wustl.edu	37	chr6	50683114	50683114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accagcagatccaccacgggGagcccaccgactttattaac	8	15	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:50683114G>A	ENST00000008391.3	+	2	553	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCACCACGGGGAGCCCACCGA	0.627																																																	0													109	100	103					6																	50683114		2203	4300	6503	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.325G>A	6.37:g.50683114G>A	ENSP00000008391:p.Glu109Lys			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.E109K	ENST00000008391.3	37	c.325	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737622	0.49045	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	.	0.051003	0.85682	D	0.000000	D	0.95098	0.8412	N	0.08118	0	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	D	0.96169	0.9121	10	0.48119	T	0.1	-4.7531	19.1268	0.93388	0.0:0.0:1.0:0.0	.	109	Q7Z6R9	AP2D_HUMAN	K	109	ENSP00000008391:E109K	ENSP00000008391:E109K	E	+	1	0	TFAP2D	50791073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GAG	TFAP2D	-	NULL		0.627	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	G	NM_172238		50683114	1	no_errors	ENST00000008391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50683114	G	A	50683114	3	1	151	1	0	0	0	0	1	0	0	0	15820	1175	41	1	331	1	TFAP2D	6	50683114	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4024212	50683114	120431953	347	24980										
PKHD1	5314	genome.wustl.edu	37	chr6	51613396	51613396	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatcctgctgacacattactGaattcaacagatgagtacaa	7	9	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:51613396G>T	ENST00000371117.3	-	58	9293	c.9018C>A	c.(9016-9018)ttC>ttA	p.F3006L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3006L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3006					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACACATTACTGAATTCAACAG	0.438																																																	0													80	82	81					6																	51613396		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9018C>A	6.37:g.51613396G>T	ENSP00000360158:p.Phe3006Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.F3006L	ENST00000371117.3	37	c.9018	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	1.625	-0.520479	0.04171	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89415	-2.32;-2.51	5.67	3.9	0.45041	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.285656	0.35235	N	0.003358	T	0.65091	0.2658	N	0.13098	0.295	0.32464	N	0.543697	B;B;B	0.23316	0.025;0.003;0.083	B;B;B	0.25405	0.028;0.006;0.06	T	0.53933	-0.8368	10	0.34782	T	0.22	.	8.7561	0.34645	0.2283:0.0:0.7717:0.0	.	3006;3006;3006	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3006	ENSP00000360158:F3006L;ENSP00000341097:F3006L	ENSP00000341097:F3006L	F	-	3	2	PKHD1	51721355	1.000000	0.71417	0.437000	0.26809	0.002000	0.02628	2.385000	0.44371	0.750000	0.32877	-0.142000	0.14014	TTC	PKHD1	-	superfamily_Pectin_lyase_fold/virulence		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51613396	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.905	T	T	51613396	G	T	51613396	3	4	151	1	0	0	0	0	1	0	0	0	11995	1281	45	3	3285	3	PKHD1	6	51613396	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	930282	51613396	119501671	348	24981										
IL17A	3605	genome.wustl.edu	37	chr6	52053995	52053995	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agatcctggtcctgcgcaggGagcctccacactgccccaac	10	17	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:52053995G>T	ENST00000340057.1	+	3	418	c.373G>T	c.(373-375)Gag>Tag	p.E125*		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	125					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.E125*(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTGCGCAGGGAGCCTCCACA	0.597																																																	1	Substitution - Nonsense(1)	lung(1)											94	82	86					6																	52053995		2203	4300	6503	SO:0001587	stop_gained	3605			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"Interleukins and interleukin receptors"	5981	protein-coding gene	gene with protein product	"cytotoxic T-lymphocyte-associated protein 8"	603149	"interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.373G>T	6.37:g.52053995G>T	ENSP00000344192:p.Glu125*		Q5T2P0	Nonsense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.E125*	ENST00000340057.1	37	c.373	CCDS4937.1	6	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619880	0.66787	.	.	ENSG00000112115	ENST00000340057	.	.	.	5.46	4.58	0.56647	.	0.213843	0.43579	D	0.000556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-14.8508	16.2887	0.82737	0.0:0.1327:0.8673:0.0	.	.	.	.	X	125	.	ENSP00000344192:E125X	E	+	1	0	IL17A	52161954	1.000000	0.71417	0.027000	0.17364	0.438000	0.31896	2.366000	0.44204	1.287000	0.44583	0.609000	0.83330	GAG	IL17A	-	pfam_Interleukin-17		0.597	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17A	HGNC	protein_coding	OTTHUMT00000040892.1	G	NM_002190		52053995	1	no_errors	ENST00000340057	ensembl	human	known	70_37	nonsense	SNP	0.365	T	T	52053995	G	T	52053995	4	4	151	1	0	0	0	0	0	1	0	0	7654	1175	41	3	383	3	IL17A	6	52053995	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	440599	52053995	119061072	349	24982										
GSTA2	2939	genome.wustl.edu	37	chr6	52619832	52619832	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcaccagcttcatcccatCaatctcaaccattggcactt	4	16	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:52619832C>G	ENST00000493422.1	-	4	336	c.181G>C	c.(181-183)Gat>Cat	p.D61H		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	61	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.D61H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TTCATCCCATCAATCTCAACC	0.423																																																	1	Substitution - Missense(1)	breast(1)											125	124	125					6																	52619832		2203	4298	6501	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.181G>C	6.37:g.52619832C>G	ENSP00000420168:p.Asp61His		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.D61H	ENST00000493422.1	37	c.181	CCDS4944.1	6	.	.	.	.	.	.	.	.	.	.	c	18.33	3.601363	0.66445	.	.	ENSG00000244067	ENST00000493422	T	0.18960	2.18	3.64	3.64	0.41730	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.171957	0.49305	D	0.000156	T	0.60248	0.2254	H	0.99634	4.67	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.79652	-0.1714	10	0.72032	D	0.01	.	14.173	0.65522	0.0:1.0:0.0:0.0	.	61	P09210	GSTA2_HUMAN	H	61	ENSP00000420168:D61H	ENSP00000420168:D61H	D	-	1	0	GSTA2	52727791	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	5.277000	0.65586	1.600000	0.50102	0.306000	0.20318	GAT	GSTA2	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.423	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA2	HGNC	protein_coding	OTTHUMT00000043589.1	C	NM_000846		52619832	-1	no_errors	ENST00000493422	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52619832	C	G	52619832	3	3	151	1	0	0	0	0	1	0	0	0	6851	826	29	1	503	1	GSTA2	6	52619832	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	565837	52619832	118495235	350	24983										
DST	667	genome.wustl.edu	37	chr6	56368830	56368830	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgctgcttgacagtttcgaGatctgttccaattggagaca	10	9	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:56368830G>A	ENST00000361203.3	-	73	18578	c.18571C>T	c.(18571-18573)Ctc>Ttc	p.L6191F	DST_ENST00000370754.5_Missense_Mutation_p.L6480F|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L4214F|DST_ENST00000370788.2_Missense_Mutation_p.L4105F|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.L5976F|DST_ENST00000244364.6_Missense_Mutation_p.L3888F|DST_ENST00000370769.4_Missense_Mutation_p.L6302F			Q03001	DYST_HUMAN	dystonin	6191					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACAGTTTCGAGATCTGTTCCA	0.418																																																	0													111	103	106					6																	56368830		1891	4113	6004	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18571C>T	6.37:g.56368830G>A	ENSP00000354508:p.Leu6191Phe		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L6480F	ENST00000361203.3	37	c.19438		6	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299444	0.60195	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.35	4.47	0.54385	.	0.000000	0.44483	D	0.000451	T	0.63954	0.2555	M	0.71581	2.175	0.33259	D	0.559440	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.974	T	0.68150	-0.5485	9	0.44086	T	0.13	.	10.8926	0.47004	0.1465:0.0:0.8535:0.0	.	4214;6302;6480;6300;3888	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	3888;6480;6302;4214;5976;4105;6191	ENSP00000244364:L3888F;ENSP00000359790:L6480F;ENSP00000359805:L6302F;ENSP00000400883:L4214F;ENSP00000393645:L5976F;ENSP00000359824:L4105F;ENSP00000354508:L6191F	ENSP00000244364:L3888F	L	-	1	0	DST	56476789	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.086000	0.57664	1.359000	0.45940	0.650000	0.86243	CTC	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56368830	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56368830	G	A	56368830	3	1	151	1	0	0	0	0	1	0	0	0	4793	942	33	1	3957	1	DST	6	56368830	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3748998	56368830	114746237	351	24984										
EYS	346007	genome.wustl.edu	37	chr6	64498954	64498954	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggaatgactctttaccttCagccagccctcttggaagaa	8	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:64498954C>T	ENST00000370621.3	-	38	8101	c.7575G>A	c.(7573-7575)ctG>ctA	p.L2525L	EYS_ENST00000370616.2_Silent_p.L2525L|EYS_ENST00000503581.1_Silent_p.L2525L|EYS_ENST00000486069.1_5'UTR			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2525	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTTACCTTCAGCCAGCCCT	0.498																																																	0													83	74	77					6																	64498954		692	1591	2283	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.7575G>A	6.37:g.64498954C>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L2525	ENST00000370621.3	37	c.7575		6																																																																																			EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.498	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64498954	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	silent	SNP	0.999	T	T	64498954	C	T	64498954	2	4	151	1	0	0	0	0	0	0	0	1	5344	813	29	1		1	EYS	6	64498954	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8130124	64498954	106616113	352	24985										
SENP6	26054	genome.wustl.edu	37	chr6	76425309	76425309	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtcaatagtatctcagattGaccatttctgttacttgtca	6	8	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:76425309G>A	ENST00000447266.2	+	24	3816	c.3338G>A	c.(3337-3339)tGa>tAa	p.*1113*	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Silent_p.*1113*|SENP6_ENST00000370010.2_Silent_p.*1106*	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	0					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCTCAGATTGACCATTTCTG	0.353																																																	0													105	93	97					6																	76425309		1863	4108	5971	SO:0001819	synonymous_variant	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3338G>A	6.37:g.76425309G>A			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.*1113	ENST00000447266.2	37	c.3338	CCDS47454.1	6																																																																																			SENP6	-	NULL		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	G	NM_015571		76425309	1	no_errors	ENST00000370014	ensembl	human	known	70_37	silent	SNP	0.817	A	A	76425309	G	A	76425309	2	1	151	1	0	0	0	0	0	0	0	1	14080	1285	45	1		1	SENP6	6	76425309	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11926355	76425309	94689758	353	24986										
KIAA1009	22832	genome.wustl.edu	37	chr6	84871559	84871559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttcagcataccactgtaatCttttttgcagacgactgatt	6	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:84871559C>G	ENST00000403245.3	-	20	2696	c.2582G>C	c.(2581-2583)aGa>aCa	p.R861T	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R785T	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CCACTGTAATCTTTTTTGCAG	0.328																																																	0													125	116	119					6																	84871559		2202	4299	6501	SO:0001583	missense	22832																														ENST00000403245.3:c.2582G>C	6.37:g.84871559C>G	ENSP00000385215:p.Arg861Thr			Missense_Mutation	SNP	NULL	p.R861T	ENST00000403245.3	37	c.2582	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594153	0.66219	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32272	1.46;1.46	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.45955	0.1368	M	0.76574	2.34	0.41522	D	0.9884	D	0.89917	1.0	D	0.74023	0.982	T	0.45963	-0.9225	10	0.62326	D	0.03	-19.6725	12.5927	0.56451	0.0:0.9235:0.0:0.0765	.	861	Q5TB80	QN1_HUMAN	T	785;861	ENSP00000257766:R785T;ENSP00000385215:R861T	ENSP00000257766:R785T	R	-	2	0	KIAA1009	84928278	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	2.180000	0.42537	2.628000	0.89032	0.655000	0.94253	AGA	KIAA1009	-	NULL		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84871559	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84871559	C	G	84871559	3	3	151	1	0	0	0	0	1	0	0	0	8223	913	32	1	1661	1	KIAA1009	6	84871559	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8446250	84871559	86243508	354	24987										
MDN1	23195	genome.wustl.edu	37	chr6	90354840	90354840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgccctcaaggaaaaggcctCgcccatcagagactaccagg	10	14	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:90354840C>T	ENST00000369393.3	-	101	16611	c.16496G>A	c.(16495-16497)cGa>cAa	p.R5499Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R5499Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5499	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAAAGGCCTCGCCCATCAGA	0.443																																																	0													80	89	86					6																	90354840		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16496G>A	6.37:g.90354840C>T	ENSP00000358400:p.Arg5499Gln		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R5499Q	ENST00000369393.3	37	c.16496	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115014	0.77210	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.21734	1.99;1.99	5.84	5.84	0.93424	von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000002	T	0.42177	0.1191	M	0.74647	2.275	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.10245	-1.0638	10	0.44086	T	0.13	.	20.1579	0.98126	0.0:1.0:0.0:0.0	.	5499	Q9NU22	MDN1_HUMAN	Q	5499	ENSP00000358400:R5499Q;ENSP00000413970:R5499Q	ENSP00000358400:R5499Q	R	-	2	0	MDN1	90411561	1.000000	0.71417	0.858000	0.33744	0.981000	0.71138	7.352000	0.79404	2.767000	0.95098	0.555000	0.69702	CGA	MDN1	-	smart_VWF_A,pirsf_Midasin,pfscan_VWF_A		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90354840	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.996	T	T	90354840	C	T	90354840	3	4	151	1	0	0	0	0	1	0	0	0	9438	884	31	1	302	1	MDN1	6	90354840	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5483281	90354840	80760227	355	24988										
BACH2	60468	genome.wustl.edu	37	chr6	90718406	90718406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cactgcatgcggccagcacaGcccggtgggcccggaactcc	13	17	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:90718406G>A	ENST00000257749.4	-	6	865	c.158C>T	c.(157-159)gCt>gTt	p.A53V	BACH2_ENST00000343122.3_Missense_Mutation_p.A53V|BACH2_ENST00000537989.1_Missense_Mutation_p.A53V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	53	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGCCAGCACAGCCCGGTGGGC	0.522																																																	0													104	104	104					6																	90718406		2203	4300	6503	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.158C>T	6.37:g.90718406G>A	ENSP00000257749:p.Ala53Val		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A53V	ENST00000257749.4	37	c.158	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.214375	0.95104	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.107337	0.64402	D	0.000007	T	0.65037	0.2653	L	0.33339	1.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.65010	0.931	T	0.59815	-0.7383	10	0.21014	T	0.42	-0.2628	19.0228	0.92921	0.0:0.0:1.0:0.0	.	53	Q9BYV9	BACH2_HUMAN	V	53	ENSP00000257749:A53V;ENSP00000437473:A53V;ENSP00000345642:A53V;ENSP00000384145:A53V;ENSP00000397668:A53V	ENSP00000257749:A53V	A	-	2	0	BACH2	90775127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.381000	0.97205	2.507000	0.84556	0.591000	0.81541	GCT	BACH2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.522	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	G	NM_021813		90718406	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90718406	G	A	90718406	3	1	151	1	0	0	0	0	1	0	0	0	1285	971	34	4	2383	4	BACH2	6	90718406	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	363566	90718406	80396661	356	24989										
FBXL4	26235	genome.wustl.edu	37	chr6	99347235	99347235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggtagcttatcacaggagGagagatttaaggcctgtaga	14	5	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:99347235G>A	ENST00000369244.2	-	7	1654	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	FBXL4_ENST00000229971.1_Missense_Mutation_p.S409F	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	409					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATCACAGGAGGAGAGATTTAA	0.403																																																	0													157	141	146					6																	99347235		2203	4300	6503	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1226C>T	6.37:g.99347235G>A	ENSP00000358247:p.Ser409Phe		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S409F	ENST00000369244.2	37	c.1226	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134527	0.77662	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.22743	1.94;1.94	5.3	5.3	0.74995	.	0.058042	0.64402	D	0.000001	T	0.26340	0.0643	M	0.85945	2.785	0.58432	D	0.999999	B;D	0.56521	0.252;0.976	B;P	0.47744	0.071;0.556	T	0.18713	-1.0328	10	0.87932	D	0	.	12.3228	0.54993	0.0776:0.0:0.9224:0.0	.	409;409	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	F	409	ENSP00000358247:S409F;ENSP00000229971:S409F	ENSP00000229971:S409F	S	-	2	0	FBXL4	99453956	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.690000	0.84178	2.480000	0.83734	0.563000	0.77884	TCC	FBXL4	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.403	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	G			99347235	-1	no_errors	ENST00000229971	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99347235	G	A	99347235	3	1	151	1	0	0	0	0	1	0	0	0	5739	1174	41	1	655	1	FBXL4	6	99347235	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8628829	99347235	71767832	357	24990										
AKD1	221264	genome.wustl.edu	37	chr6	109894651	109894651	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caataaagtctaacctgcttCaggctcagtttcagggacct	8	11	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:109894651C>G	ENST00000424296.2	-	21	2414	c.2338G>C	c.(2338-2340)Gaa>Caa	p.E780Q	AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	780					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TAACCTGCTTCAGGCTCAGTT	0.433																																																	0													133	116	121					6																	109894651		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2338G>C	6.37:g.109894651C>G	ENSP00000410186:p.Glu780Gln		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E780Q	ENST00000424296.2	37	c.2338	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028752	0.35797	.	.	ENSG00000155085	ENST00000424296	T	0.70631	-0.5	4.32	3.43	0.39272	.	.	.	.	.	T	0.37625	0.1010	N	0.24115	0.695	0.22656	N	0.998889	P	0.45348	0.856	B	0.40477	0.33	T	0.05886	-1.0858	8	.	.	.	.	10.2345	0.43275	0.0:0.799:0.201:0.0	.	780	Q5TCS8	AKD1_HUMAN	Q	780	ENSP00000410186:E780Q	.	E	-	1	0	AKD1	110001344	0.205000	0.23458	0.043000	0.18650	0.004000	0.04260	1.709000	0.37909	1.365000	0.46057	0.563000	0.77884	GAA	AKD1	-	NULL		0.433	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109894651	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.061	G	G	109894651	C	G	109894651	3	3	151	1	0	0	0	0	1	0	0	0	460	835	29	1	3481	1	AKD1	6	109894651	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10547416	109894651	61220416	358	24991										
DDO	8528	genome.wustl.edu	37	chr6	110714274	110714274	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attttctgcatccggggacaGattccagtcccctttttgcc	8	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:110714274G>A	ENST00000368924.3	-	5	829	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	DDO_ENST00000368923.3_Silent_p.L213L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	244					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.L272M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TCCGGGGACAGATTCCAGTCC	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											138	147	144					6																	110714274		2203	4300	6503	SO:0001819	synonymous_variant	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.814C>T	6.37:g.110714274G>A			A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	pfam_FAD-dep_OxRdtase	p.L272	ENST00000368924.3	37	c.814	CCDS5082.1	6																																																																																			DDO	-	pfam_FAD-dep_OxRdtase		0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDO	HGNC	protein_coding	OTTHUMT00000041796.1	G			110714274	-1	no_errors	ENST00000368924	ensembl	human	known	70_37	silent	SNP	0.825	A	A	110714274	G	A	110714274	2	1	151	1	0	0	0	0	0	0	0	1	4339	933	33	1		1	DDO	6	110714274	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	819623	110714274	60400793	359	24992										
FAM184A	79632	genome.wustl.edu	37	chr6	119327698	119327698	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagcctttcctgggagtcctGaagactagcaataagtcctt	9	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:119327698G>A	ENST00000338891.7	-	7	2172	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q577*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q457*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.Q457*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q457*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	577						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGGGAGTCCTGAAGACTAGCA	0.403																																																	0													119	113	115					6																	119327698		1867	4097	5964	SO:0001587	stop_gained	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1729C>T	6.37:g.119327698G>A	ENSP00000342604:p.Gln577*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q577*	ENST00000338891.7	37	c.1729	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.600205	0.98381	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.	.	.	5.55	5.55	0.83447	.	0.120329	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7765	14.3536	0.66722	0.0:0.0:0.8519:0.1481	.	.	.	.	X	577;457;457;577;457	.	ENSP00000342604:Q577X	Q	-	1	0	FAM184A	119369397	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.617000	0.67716	2.611000	0.88343	0.655000	0.94253	CAG	FAM184A	-	superfamily_Prefoldin		0.403	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	G	NM_024581		119327698	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	119327698	G	A	119327698	4	1	151	1	0	0	0	0	0	1	0	0	5526	1299	45	1	1741	1	FAM184A	6	119327698	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8613424	119327698	51787369	360	24993										
ENPP1	5167	genome.wustl.edu	37	chr6	132172328	132172328	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggtgtggtgagaaaaggttGaccagaagcctctgtgcctg	15	7	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:132172328G>A	ENST00000360971.2	+	4	497	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	159	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGAAAAGGTTGACCAGAAGCC	0.443																																					Colon(104;336 1535 5856 11019 33782)												0													157	148	151					6																	132172328		2203	4300	6503	SO:0001819	synonymous_variant	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.477G>A	6.37:g.132172328G>A			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L159	ENST00000360971.2	37	c.477	CCDS5150.2	6																																																																																			ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom		0.443	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	G			132172328	1	no_errors	ENST00000360971	ensembl	human	known	70_37	silent	SNP	0.124	A	A	132172328	G	A	132172328	2	1	151	1	0	0	0	0	0	0	0	1	5141	1281	45	1		1	ENPP1	6	132172328	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	12844630	132172328	38942739	361	24994										
TAAR1	134864	genome.wustl.edu	37	chr6	132966947	132966947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagaagaaagtccacagtggCcatggaatgaatgagccaat	11	8	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:132966947C>T	ENST00000275216.1	-	1	195	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	66					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TCCACAGTGGCCATGGAATGA	0.413																																																	0													129	126	127					6																	132966947		2203	4300	6503	SO:0001583	missense	134864			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.196G>A	6.37:g.132966947C>T	ENSP00000275216:p.Ala66Thr		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt	p.A66T	ENST00000275216.1	37	c.196	CCDS5158.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604160	0.87157	.	.	ENSG00000146399	ENST00000275216	T	0.56103	0.48	5.82	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.113622	0.64402	D	0.000014	T	0.79370	0.4434	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.87329	0.2323	10	0.72032	D	0.01	-7.6273	13.7344	0.62809	0.28:0.72:0.0:0.0	.	66	Q96RJ0	TAAR1_HUMAN	T	66	ENSP00000275216:A66T	ENSP00000275216:A66T	A	-	1	0	TAAR1	133008640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.160000	0.50739	1.401000	0.46761	0.555000	0.69702	GCC	TAAR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR1	HGNC	protein_coding	OTTHUMT00000042259.1	C	NM_138327		132966947	-1	no_errors	ENST00000275216	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132966947	C	T	132966947	3	4	151	1	0	0	0	0	1	0	0	0	15519	739	26	4	827	4	TAAR1	6	132966947	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	794619	132966947	38148120	362	24995										
MAP3K5	4217	genome.wustl.edu	37	chr6	136923055	136923055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggttcaaaacatttcagtatGaatgccttggcctctgcaga	9	9	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:136923055G>C	ENST00000359015.4	-	20	3102	c.2742C>G	c.(2740-2742)ttC>ttG	p.F914L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.F161L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	914	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATTTCAGTATGAATGCCTTGG	0.403																																																	0													117	103	108					6																	136923055		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2742C>G	6.37:g.136923055G>C	ENSP00000351908:p.Phe914Leu		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F914L	ENST00000359015.4	37	c.2742	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350413	0.82132	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.59224	0.28;0.28	5.35	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	N	0.17345	0.48	0.54753	D	0.999986	D;D	0.67145	0.994;0.996	D;D	0.76575	0.953;0.988	T	0.59402	-0.7461	10	0.72032	D	0.01	.	10.4259	0.44378	0.1507:0.0:0.8493:0.0	.	994;914	Q59GL6;Q99683	.;M3K5_HUMAN	L	914;161;994	ENSP00000351908:F914L;ENSP00000348104:F161L	ENSP00000348104:F161L	F	-	3	2	MAP3K5	136964748	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	4.603000	0.61105	1.369000	0.46134	0.557000	0.71058	TTC	MAP3K5	-	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		0.403	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136923055	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136923055	G	C	136923055	3	2	151	1	0	0	0	0	1	0	0	0	9276	1281	45	1	1426	1	MAP3K5	6	136923055	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3956108	136923055	34192012	363	24996										
KIAA1244	57221	genome.wustl.edu	37	chr6	138608232	138608232	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgttgctgctaactgcgcctCagcccttgcccagatggcag	11	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:138608232C>T	ENST00000251691.4	+	17	2973	c.2807C>T	c.(2806-2808)tCa>tTa	p.S936L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AACTGCGCCTCAGCCCTTGCC	0.512																																																	0													65	54	58					6																	138608232		2203	4298	6501	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2807C>T	6.37:g.138608232C>T	ENSP00000251691:p.Ser936Leu			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.S936L	ENST00000251691.4	37	c.2807	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701546	0.88924	.	.	ENSG00000112379	ENST00000251691	T	0.19394	2.15	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.02411	-1.1163	10	0.41790	T	0.15	-21.9521	17.8535	0.88755	0.0:1.0:0.0:0.0	.	936	Q5TH69	BIG3_HUMAN	L	936	ENSP00000251691:S936L	ENSP00000251691:S936L	S	+	2	0	KIAA1244	138649925	1.000000	0.71417	0.902000	0.35471	0.896000	0.52359	7.307000	0.78920	2.448000	0.82819	0.655000	0.94253	TCA	KIAA1244	-	superfamily_ARM-type_fold		0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138608232	1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138608232	C	T	138608232	3	4	151	1	0	0	0	0	1	0	0	0	8237	838	29	1	2873	1	KIAA1244	6	138608232	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1685177	138608232	32506835	364	24997										
WTAP	9589	genome.wustl.edu	37	chr6	160176556	160176556	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctcaagaggagaaagcagtGagtgggaaaggtaatcgaac	14	6	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:160176556G>C	ENST00000358372.4	+	8	2861	c.1104G>C	c.(1102-1104)gtG>gtC	p.V368V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	368					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGAAAGCAGTGAGTGGGAAAG	0.458																																																	0													85	90	89					6																	160176556		2203	4300	6503	SO:0001819	synonymous_variant	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1104G>C	6.37:g.160176556G>C			Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	NULL	p.V368	ENST00000358372.4	37	c.1104	CCDS5266.1	6																																																																																			WTAP	-	NULL		0.458	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	G	NM_152857		160176556	1	no_errors	ENST00000358372	ensembl	human	known	70_37	silent	SNP	1.000	C	C	160176556	G	C	160176556	2	2	151	1	0	0	0	0	0	0	0	1	17440	1277	45	1		1	WTAP	6	160176556	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	21568324	160176556	10938511	365	24998										
RNF216	54476	genome.wustl.edu	37	chr7	5663694	5663694	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggggcacttgcctccattCtttcttttctgttcctcttc	7	13	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:5663694C>T	ENST00000425013.2	-	16	2498	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	RNF216_ENST00000389902.3_Silent_p.K815K|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	758					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K815N(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCCATTCTTTCTTTTCT	0.537																																																	1	Substitution - Missense(1)	urinary_tract(1)											119	115	117					7																	5663694		2203	4300	6503	SO:0001819	synonymous_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2274G>A	7.37:g.5663694C>T			Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	smart_Znf_C6HC	p.K815	ENST00000425013.2	37	c.2445	CCDS34595.1	7																																																																																			RNF216	-	NULL		0.537	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	C	NM_207111		5663694	-1	no_errors	ENST00000389902	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5663694	C	T	5663694	2	4	151	1	0	0	0	0	0	0	0	1	13510	912	32	1		1	RNF216	7	5663694	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		5663694	153474969	366	24999										
C7orf28A	51622	genome.wustl.edu	37	chr7	5963465	5963465	+	Splice_Site	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attttgaccctcgtcttgcaGagtggatgaagatgaggaga							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:5963465G>A	ENST00000325974.6	+	14	1331		c.e14-1		CCZ1_ENST00000537980.1_Splice_Site	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)							lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TCGTCTTGCAGAGTGGATGAA	0.463																																																	0													135	120	125					7																	5963465		2179	4214	6393	SO:0001630	splice_region_variant	51622			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1266-1G>A	7.37:g.5963465G>A			A2RU45|O95766|Q9UG65|Q9Y359	Splice_Site	SNP	-	e14-1	ENST00000325974.6	37	c.1266-1	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	g	19.58	3.855211	0.71719	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.906	0.86128	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCZ1	5929991	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.792000	0.99085	2.307000	0.77673	0.638000	0.83543	.	CCZ1	-	-		0.463	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	G	NM_015622	Intron	5963465	1	no_errors	ENST00000325974	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	5963465	G	A	5963465	5	1	151	1	0	0	0	0	0	0	1	0	2388	956	33	1	1319	1	C7orf28A	7	5963465	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	299771	5963465	153175198	367	25000	142	2								
C7orf28A	51622	genome.wustl.edu	37	chr7	5963473	5963473	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctcgtcttgcagagtggatGaagatgaggagatcattgtg							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:5963473G>A	ENST00000325974.6	+	14	1339	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	CCZ1_ENST00000537980.1_Missense_Mutation_p.E282K	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	425						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CAGAGTGGATGAAGATGAGGA	0.443																																																	0													120	107	111					7																	5963473		2178	4212	6390	SO:0001583	missense	51622			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1273G>A	7.37:g.5963473G>A	ENSP00000325681:p.Glu425Lys		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.E425K	ENST00000325974.6	37	c.1273	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443064	0.63067	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.54323	1.7	0.80722	D	1	P	0.37594	0.601	B	0.37198	0.243	T	0.50136	-0.8863	9	0.10377	T	0.69	-22.9359	16.906	0.86128	0.0:0.0:1.0:0.0	.	425	P86790	CCZ1L_HUMAN	K	425;282	.	ENSP00000325681:E425K	E	+	1	0	CCZ1	5929999	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.792000	0.99085	2.307000	0.77673	0.638000	0.83543	GAA	CCZ1	-	pfam_DUF1712_fun		0.443	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	G	NM_015622		5963473	1	no_errors	ENST00000325974	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5963473	G	A	5963473	3	1	151	1	0	0	0	0	1	0	0	0	2388	1291	45	1	1327	1	C7orf28A	7	5963473	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8	5963473	153175190	368	25001	142	2								
DNAH11	8701	genome.wustl.edu	37	chr7	21901552	21901552	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacgcatctctatcctgatgGagagcatcacccatgctgtc	9	13	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:21901552G>C	ENST00000409508.3	+	69	11315	c.11284G>C	c.(11284-11286)Gag>Cag	p.E3762Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3769Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3769					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATCCTGATGGAGAGCATCAC	0.517									Kartagener syndrome																																								0													70	72	72					7																	21901552		2053	4220	6273	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11284G>C	7.37:g.21901552G>C	ENSP00000475939:p.Glu3762Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3769Q	ENST00000409508.3	37	c.11305		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.474637|3.474637	0.63737|0.63737	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000328843|ENST00000421290	T|.	0.56941|.	0.43|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.171189|.	0.56097|.	D|.	0.000035|.	T|T	0.76271|0.76271	0.3964|0.3964	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	P|.	0.61800|.	0.894|.	T|T	0.74228|0.74228	-0.3733|-0.3733	9|4	0.66056|.	D|.	0.02|.	.|.	19.5455|19.5455	0.95295|0.95295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3769|.	Q96DT5|.	DYH11_HUMAN|.	Q|A	3769|156	ENSP00000330671:E3769Q|.	ENSP00000330671:E3769Q|.	E|G	+|+	1|2	0|0	DNAH11|DNAH11	21868077|21868077	1.000000|1.000000	0.71417|0.71417	0.376000|0.376000	0.26042|0.26042	0.016000|0.016000	0.09150|0.09150	6.518000|6.518000	0.73764|0.73764	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAG|GGA	DNAH11	-	NULL		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21901552	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21901552	G	C	21901552	3	2	151	1	0	0	0	0	1	0	0	0	4609	1175	41	1	11580	1	DNAH11	7	21901552	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	15938079	21901552	137237111	369	25002										
IGF2BP3	10643	genome.wustl.edu	37	chr7	23387308	23387308	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggagtagagaggatagtaatCgacttctcagcagcccccgc	12	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:23387308C>T	ENST00000258729.3	-	7	1085	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	243	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGATAGTAATCGACTTCTCAG	0.453																																																	0													107	98	101					7																	23387308		2203	4300	6503	SO:0001819	synonymous_variant	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.729G>A	7.37:g.23387308C>T			A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.S243	ENST00000258729.3	37	c.729	CCDS5382.1	7																																																																																			IGF2BP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.453	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	C	NM_006547		23387308	-1	no_errors	ENST00000258729	ensembl	human	known	70_37	silent	SNP	0.031	T	T	23387308	C	T	23387308	2	4	151	1	0	0	0	0	0	0	0	1	7595	871	31	1		1	IGF2BP3	7	23387308	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1485756	23387308	135751355	370	25003										
TRA2A	29896	genome.wustl.edu	37	chr7	23556088	23556088	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcgagatcgtctcctatgaGagtgagagtgggatctggat	14	6	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:23556088G>C	ENST00000297071.4	-	3	446	c.230C>G	c.(229-231)tCt>tGt	p.S77C	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	77	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCTCCTATGAGAGTGAGAGTG	0.448																																					Pancreas(121;2137 2973 46590)												0													148	126	133					7																	23556088		2203	4300	6503	SO:0001583	missense	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.230C>G	7.37:g.23556088G>C	ENSP00000297071:p.Ser77Cys		B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S77C	ENST00000297071.4	37	c.230	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675873	0.88445	.	.	ENSG00000164548	ENST00000297071	T	0.52057	0.68	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	M	0.65498	2.005	0.80722	D	1	D	0.63046	0.992	P	0.60117	0.869	T	0.69053	-0.5247	10	0.66056	D	0.02	-7.0599	18.5759	0.91154	0.0:0.0:1.0:0.0	.	77	Q13595	TRA2A_HUMAN	C	77	ENSP00000297071:S77C	ENSP00000297071:S77C	S	-	2	0	TRA2A	23522613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.821000	0.92009	2.384000	0.81235	0.460000	0.39030	TCT	TRA2A	-	NULL		0.448	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	G	NM_013293		23556088	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23556088	G	C	23556088	3	2	151	1	0	0	0	0	1	0	0	0	16464	942	33	1	642	1	TRA2A	7	23556088	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	168780	23556088	135582575	371	25004										
HOXA2	3199	genome.wustl.edu	37	chr7	27141772	27141772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccggtggctgcggcggtggcGgcggcggcggcggccggcag	24	13	0	0	rs570261651		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:27141772G>A	ENST00000222718.5	-	1	658	c.348C>T	c.(346-348)gcC>gcT	p.A116A	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	116					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						cggcggtggcggcggcggcgg	0.706																																																	0													4	5	5					7																	27141772		1489	3147	4636	SO:0001819	synonymous_variant	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.348C>T	7.37:g.27141772G>A			A1L4K3|B2RMW3	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A116	ENST00000222718.5	37	c.348	CCDS5403.1	7																																																																																			HOXA2	-	NULL		0.706	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2	G			27141772	-1	no_errors	ENST00000222718	ensembl	human	known	70_37	silent	SNP	0.943	A	A	27141772	G	A	27141772	2	1	151	1	0	0	0	0	0	0	0	1	7312	1103	39	2		2	HOXA2	7	27141772	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3585684	27141772	131996891	372	25005										
HOXA6	3203	genome.wustl.edu	37	chr7	27185519	27185519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctggcggcctcggcgcccatGgctcccatacacagcaccta	10	18	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:27185519G>A	ENST00000222728.3	-	2	484	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	154					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGCCCATGGCTCCCATAC	0.657																																																	0													74	67	70					7																	27185519		2203	4300	6503	SO:0001583	missense	3203				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.460C>T	7.37:g.27185519G>A	ENSP00000222728:p.His154Tyr		A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.H154Y	ENST00000222728.3	37	c.460	CCDS5407.1	7	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247356	0.59103	.	.	ENSG00000106006	ENST00000222728	D	0.95656	-3.77	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.258207	0.38663	N	0.001610	D	0.93710	0.7990	M	0.67397	2.05	0.40241	D	0.977951	P	0.49185	0.92	B	0.34242	0.178	D	0.94878	0.8036	10	0.72032	D	0.01	.	19.2167	0.93781	0.0:0.0:1.0:0.0	.	154	P31267	HXA6_HUMAN	Y	154	ENSP00000222728:H154Y	ENSP00000222728:H154Y	H	-	1	0	HOXA6	27152044	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.884000	0.56175	2.627000	0.88993	0.561000	0.74099	CAT	HOXA6	-	superfamily_Homeodomain-like,pfscan_Homeodomain		0.657	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA6	HGNC	protein_coding	OTTHUMT00000358697.1	G			27185519	-1	no_errors	ENST00000222728	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27185519	G	A	27185519	3	1	151	1	0	0	0	0	1	0	0	0	7316	1348	47	4	245	4	HOXA6	7	27185519	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	43747	27185519	131953144	373	25006										
INMT	11185	genome.wustl.edu	37	chr7	30795311	30795311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggggaagcgtgaattttcCtgcgtggccctggagaaaga	16	7	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:30795311C>T	ENST00000013222.5	+	3	652	c.636C>T	c.(634-636)tcC>tcT	p.S212S	INMT_ENST00000409539.1_Silent_p.S211S|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GTGAATTTTCCTGCGTGGCCC	0.592																																																	0													102	93	96					7																	30795311		2203	4300	6503	SO:0001819	synonymous_variant	11185				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.636C>T	7.37:g.30795311C>T			B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.S212	ENST00000013222.5	37	c.636	CCDS5430.1	7																																																																																			INMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans		0.592	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000214993.3	C	NM_006774		30795311	1	no_errors	ENST00000013222	ensembl	human	known	70_37	silent	SNP	0.426	T	T	30795311	C	T	30795311	2	4	151	1	0	0	0	0	0	0	0	1	7765	668	24	4		4	INMT	7	30795311	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3609792	30795311	128343352	374	25007										
SEPT7	989	genome.wustl.edu	37	chr7	35937985	35937985	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcaaaaactgaaggactctGaagctgaggtaatcagtcta	9	7	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:35937985G>C	ENST00000435235.1	+	11	1399	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	SEPT7_ENST00000494488.2_Missense_Mutation_p.E362Q|SEPT7_ENST00000399034.2_Missense_Mutation_p.E377Q|SEPT7_ENST00000432293.2_Missense_Mutation_p.E27Q|SEPT7_ENST00000350320.6_Missense_Mutation_p.E375Q|SEPT7_ENST00000399035.3_Missense_Mutation_p.E375Q			Q16181	SEPT7_HUMAN	septin 7	376					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GAAGGACTCTGAAGCTGAGGT	0.348																																																	0													37	35	36					7																	35937985		1613	3525	5138	SO:0001583	missense	989			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.967G>C	7.37:g.35937985G>C	ENSP00000413507:p.Glu323Gln		Q52M76|Q6NX50	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin7	p.E377Q	ENST00000435235.1	37	c.1129		7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335258	0.81801	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488;ENST00000432293	T;T;T;T;T	0.60171	0.41;0.36;0.36;0.36;0.21	4.9	4.9	0.64082	.	0.000000	0.85682	U	0.000000	T	0.79143	0.4396	M	0.90425	3.115	0.80722	D	1	P;D;D	0.62365	0.927;0.991;0.991	P;P;P	0.61132	0.697;0.838;0.884	D	0.84347	0.0530	10	0.72032	D	0.01	.	18.4385	0.90654	0.0:0.0:1.0:0.0	.	321;375;376	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	Q	323;377;375;375;321;323;362;27	ENSP00000413507:E323Q;ENSP00000381992:E377Q;ENSP00000344868:E375Q;ENSP00000381993:E375Q;ENSP00000438395:E362Q	ENSP00000344868:E375Q	E	+	1	0	SEPT7	35904510	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.832000	0.99423	2.438000	0.82558	0.563000	0.77884	GAA	SEPT7	-	pirsf_Septin		0.348	SEPT7-001	NOVEL	basic	protein_coding	SEPT7	HGNC	protein_coding	OTTHUMT00000338285.1	G	NM_001788		35937985	1	no_errors	ENST00000399034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35937985	G	C	35937985	3	2	151	1	0	0	0	0	1	0	0	0	14099	1291	45	1	1166	1	SEPT7	7	35937985	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5142674	35937985	123200678	375	25008										
TXNDC3	51314	genome.wustl.edu	37	chr7	37923939	37923939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attattaaagatgaagacttCaaaatactggagcaaagaca	7	5	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:37923939C>A	ENST00000199447.4	+	13	1401	c.1029C>A	c.(1027-1029)ttC>ttA	p.F343L	NME8_ENST00000440017.1_Missense_Mutation_p.F343L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	343	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ATGAAGACTTCAAAATACTGG	0.279																																																	0													81	79	79					7																	37923939		2203	4296	6499	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1029C>A	7.37:g.37923939C>A	ENSP00000199447:p.Phe343Leu		Q9NZH1	Nonsense_Mutation	SNP	NULL	p.S47*	ENST00000199447.4	37	c.140	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342452	0.24339	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52983	0.64;0.64	3.85	-2.39	0.06602	.	0.000000	0.52532	D	0.000065	T	0.56426	0.1984	L	0.60012	1.86	0.33880	D	0.636079	D	0.89917	1.0	D	0.97110	1.0	T	0.61515	-0.7047	10	0.42905	T	0.14	-24.5013	9.4027	0.38442	0.0:0.5149:0.0:0.4851	.	343	Q8N427	TXND3_HUMAN	L	343	ENSP00000199447:F343L;ENSP00000397063:F343L	ENSP00000199447:F343L	F	+	3	2	TXNDC3	37890464	0.893000	0.30496	0.950000	0.38849	0.383000	0.30230	0.400000	0.20932	-0.494000	0.06669	-0.237000	0.12165	TTC	NME8	-	NULL		0.279	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	C	NM_016616		37923939	1	no_errors	ENST00000426106	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	37923939	C	A	37923939	3	1	151	1	0	0	0	0	1	0	0	0	16829	825	29	3	1071	3	TXNDC3	7	37923939	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1985954	37923939	121214724	376	25009										
GLI3	2737	genome.wustl.edu	37	chr7	42011988	42011988	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggaggcattcttcccgctttGaggtagtgttgctgaggtcc	14	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:42011988G>A	ENST00000395925.3	-	13	2135	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	684					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCCCGCTTTGAGGTAGTGTT	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													143	147	146					7																	42011988		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2051C>T	7.37:g.42011988G>A	ENSP00000379258:p.Ser684Leu		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S684L	ENST00000395925.3	37	c.2051	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383922	0.82792	.	.	ENSG00000106571	ENST00000395925	T	0.15017	2.46	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.72479	2.2	0.80722	D	1	B	0.29301	0.241	B	0.35607	0.206	T	0.01998	-1.1232	10	0.38643	T	0.18	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	684	P10071	GLI3_HUMAN	L	684	ENSP00000379258:S684L	ENSP00000379258:S684L	S	-	2	0	GLI3	41978513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.804000	0.96469	0.655000	0.94253	TCA	GLI3	-	NULL		0.562	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	G	NM_000168		42011988	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42011988	G	A	42011988	3	1	151	1	0	0	0	0	1	0	0	0	6458	1294	45	1	2703	1	GLI3	7	42011988	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4088049	42011988	117126675	377	25010										
PGAM2	5224	genome.wustl.edu	37	chr7	44104591	44104591	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggggagttccccgggcttCaggcctgcgtaccgacgctc	15	14	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:44104591C>T	ENST00000297283.3	-	2	492	c.435G>A	c.(433-435)ctG>ctA	p.L145L	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	145					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCCCGGGCTTCAGGCCTGCGT	0.667																																																	0													32	33	33					7																	44104591		2202	4300	6502	SO:0001819	synonymous_variant	5224				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.435G>A	7.37:g.44104591C>T				Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.L145	ENST00000297283.3	37	c.435	CCDS34624.1	7																																																																																			PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1		0.667	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	C			44104591	-1	no_errors	ENST00000297283	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44104591	C	T	44104591	2	4	151	1	0	0	0	0	0	0	0	1	11798	813	29	1		1	PGAM2	7	44104591	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2092603	44104591	115034072	378	25011										
CAMK2B	816	genome.wustl.edu	37	chr7	44259838	44259838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcggcatcctctccaatgacGtgcacgtgtgggttcaggat	13	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:44259838G>A	ENST00000395749.2	-	23	1900	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	CAMK2B_ENST00000346990.4_Silent_p.H391H|CAMK2B_ENST00000440254.2_Silent_p.H484H|CAMK2B_ENST00000347193.4_Silent_p.H434H|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000353625.4_Silent_p.H421H|CAMK2B_ENST00000457475.1_Silent_p.H460H|CAMK2B_ENST00000358707.3_Silent_p.H445H|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000258682.6_Silent_p.H459H|CAMK2B_ENST00000395747.2_Silent_p.H460H|CAMK2B_ENST00000350811.3_Silent_p.H484H	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	608					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CTCCAATGACGTGCACGTGTG	0.647																																																	0													118	68	85					7																	44259838		2203	4300	6503	SO:0001819	synonymous_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1824C>T	7.37:g.44259838G>A			A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.H608	ENST00000395749.2	37	c.1824	CCDS5483.1	7																																																																																			CAMK2B	-	pfam_Ca/CaM-dep_prot_kinase-assoc		0.647	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44259838	-1	no_errors	ENST00000395749	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44259838	G	A	44259838	2	1	151	1	0	0	0	0	0	0	0	1	2605	1136	40	2		2	CAMK2B	7	44259838	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	155247	44259838	114878825	379	25012										
NPC1L1	29881	genome.wustl.edu	37	chr7	44555783	44555783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtgggacacaaactccacaGacatgcccaccgcctatggg	10	14	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:44555783G>A	ENST00000289547.4	-	18	3669	c.3614C>T	c.(3613-3615)tCt>tTt	p.S1205F	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1178F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S1132F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1205					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAACTCCACAGACATGCCCAC	0.602																																																	0													43	33	37					7																	44555783		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3614C>T	7.37:g.44555783G>A	ENSP00000289547:p.Ser1205Phe		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S1205F	ENST00000289547.4	37	c.3614	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631386	0.87660	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.91180	-2.8;-2.8;-2.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.90870	3.155	0.58432	D	0.999993	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	D	0.96997	0.9726	10	0.87932	D	0	-23.1564	17.0574	0.86537	0.0:0.0:1.0:0.0	.	1132;1178;1205	B7ZLE6;Q17RV5;D3DVK9	.;.;.	F	1205;1178;1132	ENSP00000289547:S1205F;ENSP00000370552:S1178F;ENSP00000438033:S1132F	ENSP00000289547:S1205F	S	-	2	0	NPC1L1	44522308	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	8.967000	0.93402	2.624000	0.88883	0.563000	0.77884	TCT	NPC1L1	-	pfam_Patched		0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44555783	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44555783	G	A	44555783	3	1	151	1	0	0	0	0	1	0	0	0	10595	942	33	1	477	1	NPC1L1	7	44555783	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	295945	44555783	114582880	380	25013										
TNS3	64759	genome.wustl.edu	37	chr7	47451364	47451364	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctgggccggctcgatgacGatgcagatcctgctggggtt	16	10	0	2	rs549802472		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:47451364G>A	ENST00000398879.1	-	13	1050	c.684C>T	c.(682-684)atC>atT	p.I228I	TNS3_ENST00000355730.3_Silent_p.I228I|TNS3_ENST00000442536.2_Silent_p.I228I|TNS3_ENST00000458317.2_Silent_p.I228I|TNS3_ENST00000311160.9_Silent_p.I228I			Q68CZ2	TENS3_HUMAN	tensin 3	228	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTCGATGACGATGCAGATCC	0.522													g|||	1	0.000199681	0	0	5008	,	,		17423	0		0.001	False		,,,				2504	0																0													69	75	73					7																	47451364		2025	4180	6205	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.684C>T	7.37:g.47451364G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I228	ENST00000398879.1	37	c.684	CCDS5506.2	7																																																																																			TNS3	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.522	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47451364	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	silent	SNP	0.010	A	A	47451364	G	A	47451364	2	1	151	1	0	0	0	0	0	0	0	1	16374	1048	37	1		1	TNS3	7	47451364	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2895581	47451364	111687299	381	25014										
WBSCR17	64409	genome.wustl.edu	37	chr7	71134986	71134986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attgacatcggtgatgtctcCgaaagaagagcattaaggaa	11	6	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:71134986C>T	ENST00000333538.5	+	8	1930	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	432					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGATGTCTCCGAAAGAAGAG	0.458																																																	0													94	95	95					7																	71134986		2203	4300	6503	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1296C>T	7.37:g.71134986C>T			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S432	ENST00000333538.5	37	c.1296	CCDS5540.1	7																																																																																			WBSCR17	-	NULL		0.458	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		71134986	1	no_errors	ENST00000333538	ensembl	human	known	70_37	silent	SNP	0.011	T	T	71134986	C	T	71134986	2	4	151	1	0	0	0	0	0	0	0	1	17295	639	23	2		2	WBSCR17	7	71134986	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	23683622	71134986	88003677	382	25015										
BAZ1B	9031	genome.wustl.edu	37	chr7	72891336	72891336	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacaatttcttttttcctatCagttttgcctaacccattct	2	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:72891336C>G	ENST00000339594.4	-	7	2793	c.2455G>C	c.(2455-2457)Gat>Cat	p.D819H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D819H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	819					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTCCTATCAGTTTTGCCT	0.383																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													155	145	148					7																	72891336		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2455G>C	7.37:g.72891336C>G	ENSP00000342434:p.Asp819His		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D819H	ENST00000339594.4	37	c.2455	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	8.685	0.906133	0.17760	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59638	0.25;0.25	5.7	5.7	0.88788	.	0.251586	0.45606	D	0.000354	T	0.42810	0.1219	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.35510	0.204	T	0.46176	-0.9210	10	0.48119	T	0.1	-21.1118	18.3953	0.90496	0.0:1.0:0.0:0.0	.	819	Q9UIG0	BAZ1B_HUMAN	H	819	ENSP00000342434:D819H;ENSP00000385442:D819H	ENSP00000342434:D819H	D	-	1	0	BAZ1B	72529272	0.998000	0.40836	0.213000	0.23690	0.785000	0.44390	5.061000	0.64319	2.702000	0.92279	0.491000	0.48974	GAT	BAZ1B	-	superfamily_ARM-type_fold		0.383	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	C	NM_032408		72891336	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	0.075	G	G	72891336	C	G	72891336	3	3	151	1	0	0	0	0	1	0	0	0	1331	826	29	1	2048	1	BAZ1B	7	72891336	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1756350	72891336	86247327	383	25016										
BAZ1B	9031	genome.wustl.edu	37	chr7	72892765	72892765	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagccactcaatgacttcttCaagtgtacgtgacaccataa	7	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:72892765C>G	ENST00000339594.4	-	7	1364	c.1026G>C	c.(1024-1026)ttG>ttC	p.L342F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L342F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	342	Lys-rich.|Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGACTTCTTCAAGTGTACGT	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													108	104	106					7																	72892765		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1026G>C	7.37:g.72892765C>G	ENSP00000342434:p.Leu342Phe		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L342F	ENST00000339594.4	37	c.1026	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346151	0.41599	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.61510	0.1;0.1	5.93	3.83	0.44106	.	0.099244	0.43416	D	0.000569	T	0.53110	0.1776	L	0.27053	0.805	0.38842	D	0.956094	D	0.76494	0.999	D	0.66196	0.942	T	0.54397	-0.8300	10	0.06625	T	0.88	-13.8562	7.8503	0.29451	0.1351:0.7092:0.0:0.1557	.	342	Q9UIG0	BAZ1B_HUMAN	F	342	ENSP00000342434:L342F;ENSP00000385442:L342F	ENSP00000342434:L342F	L	-	3	2	BAZ1B	72530701	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.517000	0.35867	1.531000	0.49152	0.591000	0.81541	TTG	BAZ1B	-	NULL		0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	C	NM_032408		72892765	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72892765	C	G	72892765	3	3	151	1	0	0	0	0	1	0	0	0	1331	825	29	1	3477	1	BAZ1B	7	72892765	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1429	72892765	86245898	384	25017										
VPS37D	155382	genome.wustl.edu	37	chr7	73084430	73084430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagaggcggagcaggaggcaGaggtgaggggaggggtggct	24	4	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:73084430G>C	ENST00000324941.4	+	3	525	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	VPS37D_ENST00000451519.1_Intron	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCAGGAGGCAGAGGTGAGGGG	0.667																																																	0													9	11	10					7																	73084430		1781	3658	5439	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"Williams Beuren syndrome chromosome region 24", "vacuolar protein sorting 37D (yeast)"	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.391G>C	7.37:g.73084430G>C	ENSP00000320416:p.Glu131Gln			Missense_Mutation	SNP	pfam_Mod_r	p.E131Q	ENST00000324941.4	37	c.391	CCDS43596.1	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722563	0.89298	.	.	ENSG00000176428	ENST00000324941	D	0.82711	-1.64	5.15	5.15	0.70609	Modifier of rudimentary, Modr (2);	0.089454	0.42172	D	0.000753	D	0.89174	0.6640	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.89874	0.4025	10	0.66056	D	0.02	.	14.1007	0.65054	0.0:0.0:1.0:0.0	.	131	Q86XT2	VP37D_HUMAN	Q	131	ENSP00000320416:E131Q	ENSP00000320416:E131Q	E	+	1	0	VPS37D	72722366	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.898000	0.75676	2.402000	0.81655	0.561000	0.74099	GAG	VPS37D	-	pfam_Mod_r		0.667	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37D	HGNC	protein_coding	OTTHUMT00000348064.1	G	NM_152560		73084430	1	no_errors	ENST00000324941	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73084430	G	C	73084430	3	2	151	1	0	0	0	0	1	0	0	0	17239	943	33	1	401	1	VPS37D	7	73084430	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	191665	73084430	86054233	385	25018										
LIMK1	3984	genome.wustl.edu	37	chr7	73500115	73500115	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtgcaagctgcggccagagGatctatgatggccagtacct	13	10	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:73500115G>A	ENST00000336180.2	+	2	144	c.93G>A	c.(91-93)agG>agA	p.R31R	LIMK1_ENST00000418310.1_Silent_p.R61R	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	31	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCGGCCAGAGGATCTATGATG	0.612																																																	0													77	53	61					7																	73500115		2186	4276	6462	SO:0001819	synonymous_variant	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.93G>A	7.37:g.73500115G>A			B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R31	ENST00000336180.2	37	c.93	CCDS5563.1	7																																																																																			LIMK1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	G	NM_002314		73500115	1	no_errors	ENST00000336180	ensembl	human	known	70_37	silent	SNP	0.998	A	A	73500115	G	A	73500115	2	1	151	1	0	0	0	0	0	0	0	1	8821	1165	41	1		1	LIMK1	7	73500115	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	415685	73500115	85638548	386	25019										
HIP1	3092	genome.wustl.edu	37	chr7	75171284	75171284	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctgtgtcagcgtcatgcttGagaagtccatgttgtctgca	11	9	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:75171284G>C	ENST00000336926.6	-	29	2932	c.2906C>G	c.(2905-2907)tCa>tGa	p.S969*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.S918*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	969	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGTCATGCTTGAGAAGTCCAT	0.488			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													188	168	175					7																	75171284		2203	4300	6503	SO:0001587	stop_gained	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2906C>G	7.37:g.75171284G>C	ENSP00000336747:p.Ser969*		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S969*	ENST00000336926.6	37	c.2906	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.585923	0.98875	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.4854	16.973	0.86305	0.0:0.0:1.0:0.0	.	.	.	.	X	969;918	.	ENSP00000336747:S969X	S	-	2	0	HIP1	75009220	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.918000	0.92759	2.334000	0.79466	0.563000	0.77884	TCA	HIP1	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ		0.488	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75171284	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	75171284	G	C	75171284	4	2	151	1	0	0	0	0	0	1	0	0	7134	1294	45	1	219	1	HIP1	7	75171284	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1671169	75171284	83967379	387	25020										
STYXL1	51657	genome.wustl.edu	37	chr7	75634621	75634621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgacatgggctttgattttCaagtccttctgaatcttggg	10	7	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:75634621C>G	ENST00000248600.1	-	6	897	c.555G>C	c.(553-555)ttG>ttC	p.L185F	STYXL1_ENST00000451157.1_Missense_Mutation_p.L185F|STYXL1_ENST00000340062.5_Missense_Mutation_p.L89F|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.L185F|STYXL1_ENST00000431581.1_Missense_Mutation_p.L185F	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	185	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTTTGATTTTCAAGTCCTTCT	0.383																																																	0													97	93	95					7																	75634621		2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.555G>C	7.37:g.75634621C>G	ENSP00000248600:p.Leu185Phe		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	p.L185F	ENST00000248600.1	37	c.555	CCDS5580.1	7	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381131	0.61845	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.26	5.26	0.73747	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.66247	0.2770	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.984;0.987;0.951;0.998;0.993	T	0.70550	-0.4841	10	0.45353	T	0.12	-18.75	16.3769	0.83409	0.0:1.0:0.0:0.0	.	185;185;185;89;185	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8	.;.;.;.;STYL1_HUMAN	F	185;185;89;185;185;140;185	ENSP00000248600:L185F;ENSP00000352726:L185F;ENSP00000343383:L89F;ENSP00000392221:L185F;ENSP00000406073:L140F;ENSP00000411812:L185F	ENSP00000248600:L185F	L	-	3	2	STYXL1	75472557	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	2.440000	0.44855	2.457000	0.83068	0.650000	0.86243	TTG	STYXL1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.383	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	C	NM_016086		75634621	-1	no_errors	ENST00000248600	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75634621	C	G	75634621	3	3	151	1	0	0	0	0	1	0	0	0	15391	825	29	1	402	1	STYXL1	7	75634621	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	463337	75634621	83504042	388	25021										
CROT	54677	genome.wustl.edu	37	chr7	87022372	87022372	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tatggatttttctaccatatCagagatgacaggtgaggctt	10	6	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:87022372C>G	ENST00000331536.3	+	17	1892	c.1707C>G	c.(1705-1707)atC>atG	p.I569M	CROT_ENST00000442291.1_Missense_Mutation_p.I569M|CROT_ENST00000419147.2_Missense_Mutation_p.I597M	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	569					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTACCATATCAGAGATGACA	0.383																																																	0													184	182	183					7																	87022372		2203	4300	6503	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1707C>G	7.37:g.87022372C>G	ENSP00000331981:p.Ile569Met		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.I569M	ENST00000331536.3	37	c.1707	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859275	0.51376	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90955	-2.76;-2.76;-2.76	6.17	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	M	0.82056	2.57	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93103	0.6510	10	0.56958	D	0.05	-6.8135	5.786	0.18333	0.2471:0.5754:0.0:0.1775	.	597;569	E7EQF2;Q9UKG9	.;OCTC_HUMAN	M	597;569;569	ENSP00000413575:I597M;ENSP00000331981:I569M;ENSP00000411983:I569M	ENSP00000331981:I569M	I	+	3	3	CROT	86860308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.270000	0.33086	1.616000	0.50265	0.655000	0.94253	ATC	CROT	-	pfam_Carn_acyl_trans		0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	C	NM_021151		87022372	1	no_errors	ENST00000331536	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87022372	C	G	87022372	3	3	151	1	0	0	0	0	1	0	0	0	3899	816	29	1	1853	1	CROT	7	87022372	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	11387751	87022372	72116291	389	25022										
PPP1R9A	55607	genome.wustl.edu	37	chr7	94855369	94855369	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctttgagctgcctgagaatGaggacatgttttccccatca	9	10	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:94855369G>A	ENST00000433881.1	+	7	2519	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E663K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E663K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E663K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E663K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E685K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	663	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCTGAGAATGAGGACATGTT	0.463										HNSCC(28;0.073)																																							0													134	106	115					7																	94855369		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1987G>A	7.37:g.94855369G>A	ENSP00000398870:p.Glu663Lys		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E663K	ENST00000433881.1	37	c.1987	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305129	0.81247	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.21191	2.02;2.08;2.15;2.08;2.05;2.15	5.12	5.12	0.69794	.	0.049298	0.85682	D	0.000000	T	0.41488	0.1161	M	0.61703	1.905	0.54753	D	0.999984	P;P;P;P;D	0.54601	0.774;0.951;0.917;0.952;0.967	B;P;P;P;P	0.57548	0.345;0.823;0.713;0.452;0.546	T	0.19257	-1.0311	10	0.72032	D	0.01	.	19.1381	0.93436	0.0:0.0:1.0:0.0	.	663;663;685;663;663	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	685;663;663;663;663;663	ENSP00000405514:E685K;ENSP00000344524:E663K;ENSP00000411342:E663K;ENSP00000398870:E663K;ENSP00000289495:E663K;ENSP00000402893:E663K	ENSP00000289495:E663K	E	+	1	0	PPP1R9A	94693305	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	5.714000	0.68422	2.836000	0.97738	0.655000	0.94253	GAG	PPP1R9A	-	NULL		0.463	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94855369	1	no_errors	ENST00000289495	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94855369	G	A	94855369	3	1	151	1	0	0	0	0	1	0	0	0	12405	1291	45	1	2079	1	PPP1R9A	7	94855369	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7832997	94855369	64283294	390	25023										
TSC22D4	81628	genome.wustl.edu	37	chr7	100074917	100074917	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacctgccccatctcttctgGagcacccaactccatccgca	5	19	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100074917G>C	ENST00000300181.2	-	2	1499	c.745C>G	c.(745-747)Cca>Gca	p.P249A	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.P10A	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	249					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCTCTTCTGGAGCACCCAAC	0.637																																																	0													65	71	69					7																	100074917		2203	4300	6503	SO:0001583	missense	81628			BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.745C>G	7.37:g.100074917G>C	ENSP00000300181:p.Pro249Ala		A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.P249A	ENST00000300181.2	37	c.745	CCDS5695.1	7	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260983	0.39995	.	.	ENSG00000166925	ENST00000300181;ENST00000393991	.	.	.	3.47	3.47	0.39725	.	0.342170	0.21567	N	0.072473	T	0.32556	0.0833	N	0.24115	0.695	0.30570	N	0.763595	B;B	0.28971	0.229;0.147	B;B	0.32289	0.143;0.068	T	0.25676	-1.0125	9	0.25751	T	0.34	-1.3639	10.8285	0.46647	0.0:0.0:1.0:0.0	.	249;249	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	A	249;10	.	ENSP00000300181:P249A	P	-	1	0	TSC22D4	99912853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.020000	0.41010	2.255000	0.74692	0.549000	0.68633	CCA	TSC22D4	-	NULL		0.637	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D4	HGNC	protein_coding	OTTHUMT00000316970.1	G	NM_030935		100074917	-1	no_errors	ENST00000300181	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100074917	G	C	100074917	3	2	151	1	0	0	0	0	1	0	0	0	16641	1174	41	1	458	1	TSC22D4	7	100074917	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5219548	100074917	59063746	391	25024										
FBXO24	26261	genome.wustl.edu	37	chr7	100192016	100192016	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctacccccagaggaaggaaaGatctactctttggtagtgaa	10	9	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100192016G>T	ENST00000241071.6	+	6	1126	c.804G>T	c.(802-804)aaG>aaT	p.K268N	FBXO24_ENST00000360609.2_Missense_Mutation_p.K254N|FBXO24_ENST00000468962.1_Missense_Mutation_p.K256N|FBXO24_ENST00000427939.2_Missense_Mutation_p.K306N|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.K254N	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	268					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGAAGGAAAGATCTACTCTT	0.537																																																	0													111	105	107					7																	100192016		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.804G>T	7.37:g.100192016G>T	ENSP00000241071:p.Lys268Asn		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.K306N	ENST00000241071.6	37	c.918	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440091	0.63067	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.81330	-1.48;0.35;0.35;-1.48;-1.48	4.73	4.73	0.59995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000003	T	0.77082	0.4078	N	0.08118	0	0.40610	D	0.981661	D;D;D;P	0.76494	0.999;0.999;0.999;0.763	D;D;D;P	0.80764	0.994;0.994;0.994;0.461	T	0.79577	-0.1746	10	0.66056	D	0.02	-17.5345	9.0883	0.36594	0.0987:0.0:0.9013:0.0	.	256;306;268;254	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	N	268;254;254;256;306	ENSP00000241071:K268N;ENSP00000353821:K254N;ENSP00000419602:K254N;ENSP00000420239:K256N;ENSP00000416558:K306N	ENSP00000241071:K268N	K	+	3	2	FBXO24	100029952	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.471000	0.35365	2.646000	0.89796	0.478000	0.44815	AAG	FBXO24	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.537	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	G			100192016	1	no_errors	ENST00000427939	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100192016	G	T	100192016	3	4	151	1	0	0	0	0	1	0	0	0	5753	933	33	3	983	3	FBXO24	7	100192016	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	117099	100192016	58946647	392	25025										
GIGYF1	64599	genome.wustl.edu	37	chr7	100284359	100284359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcctcctcctcctgttcctCccgtagggagcgccagttct	8	18	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100284359C>G	ENST00000275732.5	-	7	1816	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	203	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					tcctgttcctccCGTAGGGAG	0.697																																																	0													27	29	29					7																	100284359		2202	4298	6500	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.607G>C	7.37:g.100284359C>G	ENSP00000275732:p.Glu203Gln		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E203Q	ENST00000275732.5	37	c.607	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	17.18	3.324101	0.60634	.	.	ENSG00000146830	ENST00000275732	D	0.84223	-1.82	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87795	0.6267	L	0.55990	1.75	0.51767	D	0.999938	D	0.60575	0.988	P	0.57204	0.815	D	0.85445	0.1157	10	0.27082	T	0.32	-35.8036	15.7405	0.77891	0.0:1.0:0.0:0.0	.	203	O75420	PERQ1_HUMAN	Q	203	ENSP00000275732:E203Q	ENSP00000275732:E203Q	E	-	1	0	GIGYF1	100122295	0.998000	0.40836	0.973000	0.42090	0.139000	0.21198	4.082000	0.57635	2.571000	0.86741	0.563000	0.77884	GAG	GIGYF1	-	NULL		0.697	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	C	NM_022574		100284359	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	missense	SNP	0.997	G	G	100284359	C	G	100284359	3	3	151	1	0	0	0	0	1	0	0	0	6396	864	30	1	2572	1	GIGYF1	7	100284359	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	92343	100284359	58854304	393	25026										
EPHB4	2050	genome.wustl.edu	37	chr7	100401185	100401185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attttcttctggtgtcccgcCagagtgactccgattcggag	11	11	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100401185C>T	ENST00000358173.3	-	17	3330	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L	EPHB4_ENST00000360620.3_Silent_p.L902L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGTCCCGCCAGAGTGACTC	0.617																																					GBM(200;2113 3072 25865 52728)												0													37	37	37					7																	100401185		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2862G>A	7.37:g.100401185C>T			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L954	ENST00000358173.3	37	c.2862	CCDS5706.1	7																																																																																			EPHB4	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM		0.617	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	C	NM_004444		100401185	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100401185	C	T	100401185	2	4	151	1	0	0	0	0	0	0	0	1	5189	581	21	4		4	EPHB4	7	100401185	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	116826	100401185	58737478	394	25027										
SRRT	51593	genome.wustl.edu	37	chr7	100482440	100482440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggaagagaagaaagaagactCcgagaaggaagccaaaaagg	14	5	0	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100482440C>T	ENST00000347433.4	+	8	1180	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	SRRT_ENST00000457580.2_Missense_Mutation_p.S341F|SRRT_ENST00000388793.4_Missense_Mutation_p.S341F|SRRT_ENST00000432932.1_Missense_Mutation_p.S341F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	341	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAAGAAGACTCCGAGAAGGAA	0.517																																																	0													86	93	90					7																	100482440		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1022C>T	7.37:g.100482440C>T	ENSP00000314491:p.Ser341Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S341F	ENST00000347433.4	37	c.1022	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	C	6.825	0.521379	0.13005	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T;T;T	0.44482	2.25;0.92;0.92;2.25	4.55	4.55	0.56014	.	0.430804	0.22619	N	0.057739	T	0.32041	0.0816	N	0.14661	0.345	0.26723	N	0.970743	P;P;P;P	0.49447	0.924;0.924;0.924;0.875	P;P;P;B	0.44772	0.46;0.46;0.46;0.271	T	0.22347	-1.0219	10	0.56958	D	0.05	.	15.1677	0.72842	0.0:1.0:0.0:0.0	.	341;341;341;341	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	F	341	ENSP00000416553:S341F;ENSP00000373445:S341F;ENSP00000391852:S341F;ENSP00000314491:S341F	ENSP00000314491:S341F	S	+	2	0	SRRT	100320376	0.001000	0.12720	0.988000	0.46212	0.132000	0.20833	1.058000	0.30504	2.256000	0.74724	0.591000	0.81541	TCC	SRRT	-	NULL		0.517	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100482440	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	0.821	T	T	100482440	C	T	100482440	3	4	151	1	0	0	0	0	1	0	0	0	15202	855	30	1	1048	1	SRRT	7	100482440	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	81255	100482440	58656223	395	25028										
SRRT	51593	genome.wustl.edu	37	chr7	100482939	100482939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccgctgcataagacctgctCcctcttcatgcgcaacatcg	8	16	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100482939C>T	ENST00000347433.4	+	10	1423	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	SRRT_ENST00000457580.2_Missense_Mutation_p.S422F|SRRT_ENST00000388793.4_Missense_Mutation_p.S421F|SRRT_ENST00000432932.1_Missense_Mutation_p.S421F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	422					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGACCTGCTCCCTCTTCATG	0.632																																																	0													52	54	53					7																	100482939		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1265C>T	7.37:g.100482939C>T	ENSP00000314491:p.Ser422Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S421F	ENST00000347433.4	37	c.1262	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872327	0.91587	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.69078	0.997;0.991;0.991;0.985	D;P;P;P	0.78314	0.991;0.901;0.901;0.798	T	0.68194	-0.5473	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	421;421;422;422	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	F	422;421;421;422;52	ENSP00000416553:S422F;ENSP00000373445:S421F;ENSP00000391852:S421F;ENSP00000314491:S422F	ENSP00000314491:S422F	S	+	2	0	SRRT	100320875	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	5.041000	0.64196	2.595000	0.87683	0.655000	0.94253	TCC	SRRT	-	NULL		0.632	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100482939	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100482939	C	T	100482939	3	4	151	1	0	0	0	0	1	0	0	0	15202	855	30	1	1299	1	SRRT	7	100482939	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	499	100482939	58655724	396	25029										
SRRT	51593	genome.wustl.edu	37	chr7	100483362	100483362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctttatgcgggtggcgctctCagagccccagccagagagga	14	12	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100483362C>T	ENST00000347433.4	+	11	1516	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	SRRT_ENST00000457580.2_Missense_Mutation_p.S453L|SRRT_ENST00000388793.4_Missense_Mutation_p.S452L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	453					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537																																																	0													86	77	80					7																	100483362		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1358C>T	7.37:g.100483362C>T	ENSP00000314491:p.Ser453Leu		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S452L	ENST00000347433.4	37	c.1355	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	c	33	5.197275	0.94960	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.989;0.981	D;D;D;D	0.78314	0.991;0.985;0.985;0.966	T	0.63171	-0.6697	10	0.72032	D	0.01	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	452;452;453;453	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	L	453;452;452;453;83	ENSP00000416553:S453L;ENSP00000373445:S452L;ENSP00000391852:S452L;ENSP00000314491:S453L	ENSP00000314491:S453L	S	+	2	0	SRRT	100321298	1.000000	0.71417	0.230000	0.23976	0.882000	0.50991	5.014000	0.64029	2.596000	0.87737	0.645000	0.84053	TCA	SRRT	-	NULL		0.537	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100483362	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	0.994	T	T	100483362	C	T	100483362	3	4	151	1	0	0	0	0	1	0	0	0	15202	838	29	1	1396	1	SRRT	7	100483362	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	423	100483362	58655301	397	25030										
TMEM168	64418	genome.wustl.edu	37	chr7	112424578	112424578	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaacataggaggccaagcaaGaatccaaaccaaagattgga	9	8	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:112424578G>A	ENST00000312814.6	-	2	863	c.303C>T	c.(301-303)ttC>ttT	p.F101F	TMEM168_ENST00000454074.1_Silent_p.F101F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	101						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGCCAAGCAAGAATCCAAACC	0.333																																																	0													75	78	77					7																	112424578		2203	4300	6503	SO:0001819	synonymous_variant	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.303C>T	7.37:g.112424578G>A			A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	superfamily_ConA-like_lec_gl_sf	p.F101	ENST00000312814.6	37	c.303	CCDS5757.1	7																																																																																			TMEM168	-	NULL		0.333	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	G	NM_022484		112424578	-1	no_errors	ENST00000312814	ensembl	human	known	70_37	silent	SNP	0.999	A	A	112424578	G	A	112424578	2	1	151	1	0	0	0	0	0	0	0	1	16113	933	33	1		1	TMEM168	7	112424578	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11941216	112424578	46714085	398	25031										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113517963	113517963	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaacaaagattcgttgccttGagcttgactttcctcaacag	7	10	1	3	rs199888601		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:113517963G>C	ENST00000284601.3	-	4	3252	c.3184C>G	c.(3184-3186)Caa>Gaa	p.Q1062E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1062					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCGTTGCCTTGAGCTTGACTT	0.353																																																	0													158	157	157					7																	113517963		2203	4299	6502	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3184C>G	7.37:g.113517963G>C	ENSP00000284601:p.Gln1062Glu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.Q1062E	ENST00000284601.3	37	c.3184	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721756	0.15372	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	5.85	2.99	0.34606	.	0.860919	0.10269	N	0.694979	T	0.15219	0.0367	L	0.41824	1.3	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.22173	-1.0224	10	0.66056	D	0.02	-0.3068	8.2116	0.31486	0.1273:0.266:0.6067:0.0	.	1062	Q16821	PPR3A_HUMAN	E	1062	ENSP00000284601:Q1062E	ENSP00000284601:Q1062E	Q	-	1	0	PPP1R3A	113305199	0.036000	0.19791	0.881000	0.34555	0.906000	0.53458	0.733000	0.26087	0.751000	0.32900	0.650000	0.86243	CAA	PPP1R3A	-	NULL		0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113517963	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.001	C	C	113517963	G	C	113517963	3	2	151	1	0	0	0	0	1	0	0	0	12398	1299	45	1	188	1	PPP1R3A	7	113517963	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1093385	113517963	45620700	399	25032										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518481	113518481	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catccgagtctgttttctttGataattcttgaacctgccta	6	10	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:113518481G>A	ENST00000284601.3	-	4	2734	c.2666C>T	c.(2665-2667)tCa>tTa	p.S889L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	889					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTTTTCTTTGATAATTCTTG	0.368																																																	0													86	82	83					7																	113518481		2202	4299	6501	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2666C>T	7.37:g.113518481G>A	ENSP00000284601:p.Ser889Leu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S889L	ENST00000284601.3	37	c.2666	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421052	0.11928	.	.	ENSG00000154415	ENST00000284601	T	0.19394	2.15	5.81	5.81	0.92471	.	0.731815	0.12230	N	0.487536	T	0.27278	0.0669	M	0.67953	2.075	0.20196	N	0.999926	B	0.19073	0.033	B	0.13407	0.009	T	0.10613	-1.0622	10	0.87932	D	0	-1.7284	12.6665	0.56846	0.0:0.0:0.8245:0.1755	.	889	Q16821	PPR3A_HUMAN	L	889	ENSP00000284601:S889L	ENSP00000284601:S889L	S	-	2	0	PPP1R3A	113305717	0.867000	0.29959	0.989000	0.46669	0.138000	0.21146	1.224000	0.32539	2.730000	0.93505	0.650000	0.86243	TCA	PPP1R3A	-	NULL		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113518481	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.477	A	A	113518481	G	A	113518481	3	1	151	1	0	0	0	0	1	0	0	0	12398	1294	45	1	706	1	PPP1R3A	7	113518481	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	518	113518481	45620182	400	25033										
TFEC	22797	genome.wustl.edu	37	chr7	115624472	115624472	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaccatttaagagttggattGatgatctgatgatcaagggt	12	4	2	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:115624472G>C	ENST00000265440.7	-	2	204	c.24C>G	c.(22-24)atC>atG	p.I8M	TFEC_ENST00000484212.1_Missense_Mutation_p.I98M|TFEC_ENST00000393485.1_Missense_Mutation_p.I8M|TFEC_ENST00000320239.7_Missense_Mutation_p.I8M	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	8	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GAGTTGGATTGATGATCTGAT	0.493																																																	0													182	160	167					7																	115624472		2203	4300	6503	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.24C>G	7.37:g.115624472G>C	ENSP00000265440:p.Ile8Met		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.I8M	ENST00000265440.7	37	c.24	CCDS5762.1	7	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011597	0.35511	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T	0.18338	2.25;2.22;2.48;2.5	4.89	4.89	0.63831	.	0.516874	0.17949	N	0.156597	T	0.10252	0.0251	N	0.08118	0	0.80722	D	1	P;P;B;B	0.45569	0.861;0.471;0.259;0.205	B;B;B;B	0.39068	0.289;0.118;0.075;0.047	T	0.21042	-1.0257	10	0.49607	T	0.09	1.5765	15.1275	0.72494	0.0:0.0:1.0:0.0	.	98;8;8;8	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	M	8;8;8;98	ENSP00000265440:I8M;ENSP00000318676:I8M;ENSP00000377125:I8M;ENSP00000417432:I98M	ENSP00000265440:I8M	I	-	3	3	TFEC	115411708	0.984000	0.35163	0.045000	0.18777	0.266000	0.26442	3.101000	0.50283	2.399000	0.81585	0.655000	0.94253	ATC	TFEC	-	NULL		0.493	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4	G	NM_012252		115624472	-1	no_errors	ENST00000265440	ensembl	human	known	70_37	missense	SNP	0.175	C	C	115624472	G	C	115624472	3	2	151	1	0	0	0	0	1	0	0	0	15832	1280	45	1	1047	1	TFEC	7	115624472	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2105991	115624472	43514191	401	25034										
CTTNBP2	83992	genome.wustl.edu	37	chr7	117432046	117432046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggaggggcagcgttactggGaagtgggggtgtgctactgg	22	5	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:117432046G>A	ENST00000160373.3	-	4	1295	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	402	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCGTTACTGGGAAGTGGGGGT	0.527																																																	0													191	165	174					7																	117432046		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1204C>T	7.37:g.117432046G>A	ENSP00000160373:p.Pro402Ser		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P402S	ENST00000160373.3	37	c.1204	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.654751	0.00779	.	.	ENSG00000077063	ENST00000160373	T	0.69685	-0.42	4.78	4.78	0.61160	.	0.086759	0.49305	D	0.000148	T	0.57242	0.2040	M	0.63169	1.94	0.40521	D	0.980831	B	0.32693	0.38	B	0.25759	0.063	T	0.54748	-0.8247	10	0.12766	T	0.61	-0.7988	12.2467	0.54574	0.09:0.0:0.91:0.0	.	402	Q8WZ74	CTTB2_HUMAN	S	402	ENSP00000160373:P402S	ENSP00000160373:P402S	P	-	1	0	CTTNBP2	117219282	1.000000	0.71417	0.174000	0.22961	0.004000	0.04260	3.761000	0.55242	2.633000	0.89246	0.650000	0.86243	CCC	CTTNBP2	-	NULL		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	G	NM_033427		117432046	-1	no_errors	ENST00000160373	ensembl	human	known	70_37	missense	SNP	0.752	A	A	117432046	G	A	117432046	3	1	151	1	0	0	0	0	1	0	0	0	4050	1174	41	1	3867	1	CTTNBP2	7	117432046	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1807574	117432046	41706617	402	25035										
AASS	10157	genome.wustl.edu	37	chr7	121731835	121731835	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccagctaaatttatatctCaatggattgtttgaatgttc	6	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:121731835C>G	ENST00000393376.1	-	17	2033	c.1938G>C	c.(1936-1938)ttG>ttC	p.L646F	AASS_ENST00000417368.2_Missense_Mutation_p.L646F|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	646	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATTTATATCTCAATGGATTGT	0.378																																																	0													57	57	57					7																	121731835		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1938G>C	7.37:g.121731835C>G	ENSP00000377040:p.Leu646Phe		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.L646F	ENST00000393376.1	37	c.1938	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766693	0.69878	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.54675	0.56;0.56	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71484	-0.4579	10	0.66056	D	0.02	-11.5525	10.6647	0.45723	0.0:0.851:0.0:0.149	.	646	Q9UDR5	AASS_HUMAN	F	646	ENSP00000377040:L646F;ENSP00000403768:L646F	ENSP00000351834:L646F	L	-	3	2	AASS	121519071	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.516000	0.35856	1.351000	0.45789	0.650000	0.86243	TTG	AASS	-	pfam_Saccharopine_DH/HSpermid_syn		0.378	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	C	NM_005763		121731835	-1	no_errors	ENST00000393376	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121731835	C	G	121731835	3	3	151	1	0	0	0	0	1	0	0	0	24	825	29	1	870	1	AASS	7	121731835	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4299789	121731835	37406828	403	25036										
SND1	27044	genome.wustl.edu	37	chr7	127326700	127326700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgccatcattgtccgaggtCagcctcgtggtgggcctcct	13	14	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:127326700C>G	ENST00000354725.3	+	2	306	c.112C>G	c.(112-114)Cag>Gag	p.Q38E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	38	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGTCCGAGGTCAGCCTCGTGG	0.557																																																	0													100	91	94					7																	127326700		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.112C>G	7.37:g.127326700C>G	ENSP00000346762:p.Gln38Glu		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.Q38E	ENST00000354725.3	37	c.112	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984867	0.74474	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.29397	1.57	5.77	4.9	0.64082	Staphylococcal nuclease (SNase-like) (3);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	L	0.42632	1.34	0.58432	D	0.999999	B	0.32653	0.379	B	0.36335	0.222	T	0.02654	-1.1128	10	0.06236	T	0.91	-24.921	12.9435	0.58359	0.0:0.9213:0.0:0.0787	.	38	Q7KZF4	SND1_HUMAN	E	38;28	ENSP00000346762:Q38E	ENSP00000346762:Q38E	Q	+	1	0	SND1	127113936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.458000	0.80787	1.578000	0.49821	0.655000	0.94253	CAG	SND1	-	superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127326700	1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127326700	C	G	127326700	3	3	151	1	0	0	0	0	1	0	0	0	14874	827	29	1	118	1	SND1	7	127326700	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5594865	127326700	31811963	404	25037										
CPA4	51200	genome.wustl.edu	37	chr7	129944388	129944388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagggtgaagattggacattCgtttgaaaaccggccgatgt	14	6	0	3	rs141042847	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:129944388C>T	ENST00000222482.4	+	5	483	c.455C>T	c.(454-456)tCg>tTg	p.S152L	CPA4_ENST00000445470.2_Missense_Mutation_p.S119L|CPA4_ENST00000493259.1_Missense_Mutation_p.S48L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	152					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S152L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTGGACATTCGTTTGAAAAC	0.527													C|||	3	0.000599042	0	0	5008	,	,		19364	0.003		0	False		,,,				2504	0																1	Substitution - Missense(1)	central_nervous_system(1)						C	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	166	148	154		356,455	4.4	0.1	7	dbSNP_134	154	0,8600		0,0,4300	no	missense,missense	CPA4	NM_001163446.1,NM_016352.3	145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	119/389,152/422	129944388	2,13004	2203	4300	6503	SO:0001583	missense	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.455C>T	7.37:g.129944388C>T	ENSP00000222482:p.Ser152Leu		B7Z576|Q86UY9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.S152L	ENST00000222482.4	37	c.455	CCDS5818.1	7	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371419	0.42003	4.54E-4	0.0	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000492072;ENST00000473956;ENST00000493259	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	6.17	4.39	0.52855	Peptidase M14, carboxypeptidase A (3);	0.185210	0.48767	D	0.000164	T	0.57373	0.2049	M	0.90650	3.135	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55392	-0.8148	10	0.87932	D	0	.	5.9847	0.19428	0.0:0.645:0.1371:0.218	.	119;152	B7Z576;Q9UI42	.;CBPA4_HUMAN	L	119;152;152;119;48	ENSP00000412947:S119L;ENSP00000222482:S152L;ENSP00000417255:S152L;ENSP00000418392:S119L;ENSP00000419660:S48L	ENSP00000222482:S152L	S	+	2	0	CPA4	129731624	0.000000	0.05858	0.091000	0.20842	0.003000	0.03518	0.629000	0.24538	0.954000	0.37851	-0.136000	0.14681	TCG	CPA4	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14		0.527	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	C	NM_016352		129944388	1	no_errors	ENST00000222482	ensembl	human	known	70_37	missense	SNP	0.002	T	T	129944388	C	T	129944388	3	4	151	1	0	0	0	0	1	0	0	0	3797	893	31	1	473	1	CPA4	7	129944388	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2617688	129944388	29194275	405	25038										
AKR1B15	441282	genome.wustl.edu	37	chr7	134254236	134254236	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accctcaaggacctgaagctGagctatctggacgtctatct	9	12	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:134254236G>A	ENST00000457545.2	+	5	650	c.390G>A	c.(388-390)ctG>ctA	p.L130L	AKR1B15_ENST00000423958.1_Silent_p.L102L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	130							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACCTGAAGCTGAGCTATCTGG	0.483																																																	0													136	131	133					7																	134254236		2203	4297	6500	SO:0001819	synonymous_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.390G>A	7.37:g.134254236G>A			C9J3V2	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L102	ENST00000457545.2	37	c.306	CCDS47715.2	7																																																																																			AKR1B15	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.483	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	AKR1B15	HGNC	protein_coding	OTTHUMT00000339726.2	G			134254236	1	no_errors	ENST00000423958	ensembl	human	known	70_37	silent	SNP	1.000	A	A	134254236	G	A	134254236	2	1	151	1	0	0	0	0	0	0	0	1	468	1277	45	1		1	AKR1B15	7	134254236	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4309848	134254236	24884427	406	25039										
FAM180A	389558	genome.wustl.edu	37	chr7	135418901	135418901	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttctttcttgaggatgccaGggtggctggagaggctggcg	17	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:135418901G>C	ENST00000338588.3	-	3	609	c.344C>G	c.(343-345)cCt>cGt	p.P115R	FAM180A_ENST00000415751.1_Missense_Mutation_p.P115R|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	115						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GAGGATGCCAGGGTGGCTGGA	0.602																																																	0													137	119	125					7																	135418901		2203	4300	6503	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.344C>G	7.37:g.135418901G>C	ENSP00000342336:p.Pro115Arg		B2RP85	Missense_Mutation	SNP	NULL	p.P115R	ENST00000338588.3	37	c.344	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631410	0.03584	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.26518	1.73;1.73	5.65	3.53	0.40419	.	0.533387	0.21436	N	0.074561	T	0.14743	0.0356	L	0.31664	0.95	0.09310	N	1	B	0.30973	0.302	B	0.33042	0.157	T	0.21793	-1.0235	10	0.08837	T	0.75	-3.906	5.6642	0.17687	0.1839:0.0:0.6545:0.1616	.	115	Q6UWF9	F180A_HUMAN	R	115	ENSP00000342336:P115R;ENSP00000395467:P115R	ENSP00000342336:P115R	P	-	2	0	FAM180A	135069441	0.966000	0.33281	0.069000	0.20011	0.547000	0.35210	2.077000	0.41557	1.409000	0.46915	0.561000	0.74099	CCT	FAM180A	-	NULL		0.602	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2	G	NM_205855		135418901	-1	no_errors	ENST00000338588	ensembl	human	known	70_37	missense	SNP	0.000	C	C	135418901	G	C	135418901	3	2	151	1	0	0	0	0	1	0	0	0	5522	1000	35	4	181	4	FAM180A	7	135418901	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1164665	135418901	23719762	407	25040										
TRYX3	136541	genome.wustl.edu	37	chr7	141952378	141952378	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttataggcatcgcgacactGaggcttggagattacagaga	12	7	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:141952378G>A	ENST00000552471.1	-	4	809	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	PRSS58_ENST00000547058.2_Nonsense_Mutation_p.Q164*			Q8IYP2	PRS58_HUMAN	protease, serine, 58	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TCGCGACACTGAGGCTTGGAG	0.433																																																	0													160	147	151					7																	141952378		2203	4300	6503	SO:0001587	stop_gained	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.490C>T	7.37:g.141952378G>A	ENSP00000446916:p.Gln164*		B3KVJ6|D3DXD2	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.Q164*	ENST00000552471.1	37	c.490	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123308	0.37436	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.4	-2.45	0.06481	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.2921	0.94103	0.0:0.2483:0.7517:0.0	.	.	.	.	X	164	.	ENSP00000307206:Q164X	Q	-	1	0	PRSS58	141598856	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.892000	0.04131	-0.482000	0.06782	-0.300000	0.09419	CAG	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.433	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	G	NM_001001317		141952378	-1	no_errors	ENST00000547058	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	141952378	G	A	141952378	4	1	151	1	0	0	0	0	0	1	0	0	16635	1299	45	1	243	1	TRYX3	7	141952378	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6533477	141952378	17186285	408	25041										
CUL1	8454	genome.wustl.edu	37	chr7	148457536	148457536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacagagagattttataccaGagagagtactgaattcttgc	9	7	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:148457536G>C	ENST00000325222.4	+	7	1016	c.737G>C	c.(736-738)aGa>aCa	p.R246T	CUL1_ENST00000409469.1_Missense_Mutation_p.R246T|CUL1_ENST00000602748.1_Missense_Mutation_p.R246T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTTTATACCAGAGAGAGTACT	0.348																																																	0													123	140	134					7																	148457536		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.737G>C	7.37:g.148457536G>C	ENSP00000326804:p.Arg246Thr		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R246T	ENST00000325222.4	37	c.737	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947998	0.34377	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.73363	-0.74;-0.74	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.35723	1.085	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.60120	-0.7325	10	0.13470	T	0.59	-1.8663	17.2933	0.87163	0.0:0.0:1.0:0.0	.	246	Q13616	CUL1_HUMAN	T	246;246;204;173	ENSP00000387160:R246T;ENSP00000326804:R246T	ENSP00000326804:R246T	R	+	2	0	CUL1	148088469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	2.377000	0.81083	0.585000	0.79938	AGA	CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148457536	1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	1.000	C	C	148457536	G	C	148457536	3	2	151	1	0	0	0	0	1	0	0	0	4059	942	33	1	759	1	CUL1	7	148457536	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6505158	148457536	10681127	409	25042										
KRBA1	84626	genome.wustl.edu	37	chr7	149430667	149430667	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcacagacatctgccctactGgaggcagaagggacccacga	11	13	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149430667G>A	ENST00000485033.2	+	15	2441	c.2441G>A	c.(2440-2442)tGg>tAg	p.W814*	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Nonsense_Mutation_p.W814*|KRBA1_ENST00000255992.10_Nonsense_Mutation_p.W874*			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	875										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCCTACTGGAGGCAGAAG	0.647																																																	0													15	18	17					7																	149430667		2058	4189	6247	SO:0001587	stop_gained	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2441G>A	7.37:g.149430667G>A	ENSP00000420112:p.Trp814*		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Nonsense_Mutation	SNP	NULL	p.W874*	ENST00000485033.2	37	c.2621		7	.	.	.	.	.	.	.	.	.	.	G	38	7.030348	0.98013	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	.	.	.	5.39	5.39	0.77823	.	0.613737	0.13753	N	0.365129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.0334	14.6513	0.68800	0.0:0.0:1.0:0.0	.	.	.	.	X	874;814;814	.	ENSP00000255992:W874X	W	+	2	0	KRBA1	149061600	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	2.866000	0.48420	2.531000	0.85337	0.467000	0.42956	TGG	KRBA1	-	NULL		0.647	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	G	NM_032534		149430667	1	no_errors	ENST00000255992	ensembl	human	known	70_37	nonsense	SNP	0.985	A	A	149430667	G	A	149430667	4	1	151	1	0	0	0	0	0	1	0	0	8459	1357	47	4	2685	4	KRBA1	7	149430667	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	973131	149430667	9707996	410	25043										
ZNF467	168544	genome.wustl.edu	37	chr7	149466212	149466212	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacaggctgagccttctgtgCtgagcacgcctggcctctgc	12	15	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149466212C>G	ENST00000302017.3	-	4	642	c.229G>C	c.(229-231)Gca>Cca	p.A77P	ZNF467_ENST00000484747.1_Missense_Mutation_p.A77P	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTTCTGTGCTGAGCACGCC	0.637																																																	0													47	35	39					7																	149466212		2198	4284	6482	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.229G>C	7.37:g.149466212C>G	ENSP00000304769:p.Ala77Pro			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A77P	ENST00000302017.3	37	c.229	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144668	0.01714	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	T	0.06768	3.26	3.92	2.06	0.26882	.	.	.	.	.	T	0.03520	0.0101	N	0.02539	-0.55	0.25571	N	0.986894	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.44605	-0.9317	9	0.29301	T	0.29	-0.9816	9.9852	0.41837	0.0:0.4305:0.5695:0.0	.	77;77	Q7Z7K2;C9JAX3	ZN467_HUMAN;.	P	77	ENSP00000304769:A77P	ENSP00000304769:A77P	A	-	1	0	ZNF467	149097145	0.009000	0.17119	0.802000	0.32245	0.563000	0.35712	0.987000	0.29603	0.317000	0.23160	-0.519000	0.04390	GCA	ZNF467	-	NULL		0.637	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	C	NM_207336		149466212	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.862	G	G	149466212	C	G	149466212	3	3	151	1	0	0	0	0	1	0	0	0	17957	797	28	4	1566	4	ZNF467	7	149466212	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	35545	149466212	9672451	411	25044										
ATP6V0E2	155066	genome.wustl.edu	37	chr7	149571220	149571220	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttctggggcctcgtcggcatCgccgggccctggttcgtgcc	15	15	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149571220C>T	ENST00000425642.2	+	1	89	c.66C>T	c.(64-66)atC>atT	p.I22I	ATP6V0E2_ENST00000456496.2_Silent_p.I71I|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000421974.2_Silent_p.I71I|ATP6V0E2_ENST00000479613.1_Silent_p.I22I|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000606024.1_Silent_p.I22I|ATP6V0E2_ENST00000464662.1_Silent_p.I22I			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	22					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCGTCGGCATCGCCGGGCCCT	0.716																																																	0													5	8	7					7																	149571220		1543	3134	4677	SO:0001819	synonymous_variant	155066			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.66C>T	7.37:g.149571220C>T			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	pfam_ATPase_V0-cplx_esu	p.I71	ENST00000425642.2	37	c.213		7																																																																																			ATP6V0E2	-	pfam_ATPase_V0-cplx_esu		0.716	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	C	NM_145230		149571220	1	no_errors	ENST00000421974	ensembl	human	known	70_37	silent	SNP	1.000	T	T	149571220	C	T	149571220	2	4	151	1	0	0	0	0	0	0	0	1	1177	874	31	1		1	ATP6V0E2	7	149571220	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	105008	149571220	9567443	412	25045										
AGAP3	116988	genome.wustl.edu	37	chr7	150814771	150814771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgtgttcagcctggaggatGaaatcagtttccagacggtg	13	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:150814771G>A	ENST00000397238.2	+	5	613	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000479901.1_Missense_Mutation_p.E205K|AGAP3_ENST00000473312.1_Missense_Mutation_p.E205K|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000335367.3_Missense_Mutation_p.E385K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	169	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCTGGAGGATGAAATCAGTTT	0.562																																																	0													218	226	224					7																	150814771		2087	4252	6339	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.613G>A	7.37:g.150814771G>A	ENSP00000380413:p.Glu205Lys		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E205K	ENST00000397238.2	37	c.613	CCDS43681.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.502959|5.502959	0.96371|0.96371	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367|ENST00000469901	T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.072167|.	0.53938|.	D|.	0.000051|.	T|T	0.72326|0.72326	0.3446|0.3446	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.966;0.991;0.993;1.0|.	P;D;P;D|.	0.73380|.	0.884;0.939;0.677;0.98|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.59425|.	D|.	0.04|.	.|.	15.9328|15.9328	0.79679|0.79679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205;385;205;205|.	C9J975;E7ESL9;Q96P47-4;E9PAL8|.	.;.;.;.|.	K|I	205;205;205;169;385|140	ENSP00000418921:E205K;ENSP00000418125:E205K;ENSP00000380413:E205K;ENSP00000335589:E385K|.	ENSP00000334157:E169K|.	E|M	+|+	1|3	0|0	AGAP3|AGAP3	150445704|150445704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.614000|9.614000	0.98353|0.98353	2.240000|2.240000	0.73641|0.73641	0.407000|0.407000	0.27541|0.27541	GAA|ATG	AGAP3	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.562	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351908.3	G	NM_031946		150814771	1	no_errors	ENST00000397238	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150814771	G	A	150814771	3	1	151	1	0	0	0	0	1	0	0	0	369	1291	45	1	631	1	AGAP3	7	150814771	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1243551	150814771	8323892	413	25046										
CSMD1	64478	genome.wustl.edu	37	chr8	2836248	2836248	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggatactcattccatactCaaaactctcagggaagttct	6	11	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:2836248C>G	ENST00000520002.1	-	56	9010	c.8455G>C	c.(8455-8457)Gag>Cag	p.E2819Q	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2761Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2761Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2760Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2819Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2818Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2819	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCCATACTCAAAACTCTCA	0.448																																																	0													81	74	76					8																	2836248		1879	4113	5992	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8455G>C	8.37:g.2836248C>G	ENSP00000430733:p.Glu2819Gln		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E2819Q	ENST00000520002.1	37	c.8455		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.47|11.47	1.649705|1.649705	0.29336|0.29336	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63913|.	-0.07;-0.07;-0.07;-0.07|.	5.08|5.08	1.76|1.76	0.24704|0.24704	Complement control module (2);Sushi/SCR/CCP (3);|.	0.184734|.	0.46442|.	D|.	0.000297|.	T|.	0.33469|.	0.0864|.	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	D;B;B|.	0.63880|.	0.993;0.019;0.409|.	P;B;B|.	0.60415|.	0.874;0.102;0.211|.	T|.	0.06320|.	-1.0833|.	10|.	0.13470|.	T|.	0.59|.	.|.	2.7111|2.7111	0.05175|0.05175	0.0:0.3047:0.2548:0.4404|0.0:0.3047:0.2548:0.4404	.|.	2819;2819;2760|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Q|S	2761;2819;2680;2818;2760|2235	ENSP00000383047:E2761Q;ENSP00000430733:E2819Q;ENSP00000441462:E2818Q;ENSP00000446243:E2760Q|.	ENSP00000320445:E2680Q|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	2823655|2823655	1.000000|1.000000	0.71417|0.71417	0.651000|0.651000	0.29564|0.29564	0.390000|0.390000	0.30446|0.30446	3.735000|3.735000	0.55044|0.55044	0.514000|0.514000	0.28300|0.28300	0.563000|0.563000	0.77884|0.77884	GAG|TGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2836248	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2836248	C	G	2836248	3	3	151	1	0	0	0	0	1	0	0	0	3949	835	29	1	2306	1	CSMD1	8	2836248	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		2836248	143527774	414	25047										
AMAC1L2	83650	genome.wustl.edu	37	chr8	11189627	11189627	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agaggacagggaaggtggagGagtgagatagaacttgggag	20	2	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:11189627G>C	ENST00000382435.4	+	1	1231	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	338						integral component of membrane (GO:0016021)											GAAGGTGGAGGAGTGAGATAG	0.468																																																	0													45	48	47					8																	11189627		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1012G>C	8.37:g.11189627G>C	ENSP00000371872:p.Glu338Gln		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.E338Q	ENST00000382435.4	37	c.1012	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	g	4.994	0.184554	0.09495	.	.	ENSG00000177710	ENST00000382435	T	0.35973	1.28	.	.	.	.	0.495967	0.16739	N	0.201511	T	0.19167	0.0460	N	0.16478	0.41	0.25763	N	0.984925	B	0.06786	0.001	B	0.06405	0.002	T	0.15378	-1.0439	8	0.87932	D	0	.	.	.	.	.	338	Q96KT7	S35G5_HUMAN	Q	338	ENSP00000371872:E338Q	ENSP00000371872:E338Q	E	+	1	0	SLC35G5	11227037	0.344000	0.24827	0.247000	0.24249	0.248000	0.25809	0.394000	0.20834	0.064000	0.16427	0.064000	0.15345	GAG	SLC35G5	-	NULL		0.468	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	G	NM_054028		11189627	1	no_errors	ENST00000382435	ensembl	human	known	70_37	missense	SNP	0.993	C	C	11189627	G	C	11189627	3	2	151	1	0	0	0	0	1	0	0	0	560	1175	41	1	1014	1	AMAC1L2	8	11189627	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8353379	11189627	135174395	415	25048										
PDGFRL	5157	genome.wustl.edu	37	chr8	17447122	17447122	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcaccaaagacgcagtctatCatgatgcaagtgctggataa	10	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:17447122C>T	ENST00000541323.1	+	3	646	c.201C>T	c.(199-201)atC>atT	p.I67I	PDGFRL_ENST00000398074.3_Silent_p.I67I|PDGFRL_ENST00000251630.6_Silent_p.I67I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	67	Ig-like C2-type 1.				G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CGCAGTCTATCATGATGCAAG	0.483																																																	0													116	110	112					8																	17447122		2203	4300	6503	SO:0001819	synonymous_variant	5157			D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.201C>T	8.37:g.17447122C>T			A8K085|Q6FH04	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I67	ENST00000541323.1	37	c.201	CCDS6003.1	8																																																																																			PDGFRL	-	pfscan_Ig-like		0.483	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRL	HGNC	protein_coding	OTTHUMT00000253366.3	C	NM_006207		17447122	1	no_errors	ENST00000251630	ensembl	human	known	70_37	silent	SNP	0.994	T	T	17447122	C	T	17447122	2	4	151	1	0	0	0	0	0	0	0	1	11687	816	29	1		1	PDGFRL	8	17447122	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6257495	17447122	128916900	416	25049										
SLC25A37	51312	genome.wustl.edu	37	chr8	23429135	23429135	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggacgtctgtaagacccttCtgaacactcaggagaacgtg	11	10	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:23429135C>T	ENST00000519973.1	+	4	982	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	262					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TAAGACCCTTCTGAACACTCA	0.672																																																	0													31	33	32					8																	23429135		1931	4101	6032	SO:0001819	synonymous_variant	51312			AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.784C>T	8.37:g.23429135C>T			A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L262	ENST00000519973.1	37	c.784	CCDS47828.1	8																																																																																			SLC25A37	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.672	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A37	HGNC	protein_coding	OTTHUMT00000376039.1	C	NM_016612		23429135	1	no_errors	ENST00000519973	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23429135	C	T	23429135	2	4	151	1	0	0	0	0	0	0	0	1	14531	912	32	1		1	SLC25A37	8	23429135	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5982013	23429135	122934887	417	25050										
CDCA2	157313	genome.wustl.edu	37	chr8	25327454	25327454	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacagtctggatttttagttGaagagtctcttcccctttca	7	10	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:25327454G>A	ENST00000330560.3	+	7	1255	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	CDCA2_ENST00000380665.3_Missense_Mutation_p.E245K	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	260					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATTTTTAGTTGAAGAGTCTCT	0.343																																																	0													98	99	98					8																	25327454		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.778G>A	8.37:g.25327454G>A	ENSP00000328228:p.Glu260Lys		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.E260K	ENST00000330560.3	37	c.778	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279115	0.23307	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.32272	1.46;1.46	5.06	0.468	0.16732	.	1.058180	0.07327	N	0.878642	T	0.26666	0.0652	L	0.57536	1.79	0.09310	N	1	B;B;B	0.23891	0.046;0.093;0.093	B;B;B	0.23018	0.019;0.043;0.043	T	0.32268	-0.9913	10	0.35671	T	0.21	-1.7695	3.275	0.06896	0.3001:0.0:0.4771:0.2227	.	260;245;260	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	K	260;245	ENSP00000328228:E260K;ENSP00000370040:E245K	ENSP00000328228:E260K	E	+	1	0	CDCA2	25383371	0.258000	0.24033	0.006000	0.13384	0.463000	0.32649	0.656000	0.24948	0.266000	0.21894	0.650000	0.86243	GAA	CDCA2	-	NULL		0.343	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	G	NM_152562		25327454	1	no_errors	ENST00000330560	ensembl	human	known	70_37	missense	SNP	0.008	A	A	25327454	G	A	25327454	3	1	151	1	0	0	0	0	1	0	0	0	3091	1291	45	1	800	1	CDCA2	8	25327454	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1898319	25327454	121036568	418	25051										
PPP2R2A	5520	genome.wustl.edu	37	chr8	26217714	26217714	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taaaattatggaaaatcagtGaaagggacaaaagaccagaa	9	4	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:26217714G>A	ENST00000380737.3	+	5	705	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E136K	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	126					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GAAAATCAGTGAAAGGGACAA	0.313																																																	0													83	86	85					8																	26217714		2203	4299	6502	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.376G>A	8.37:g.26217714G>A	ENSP00000370113:p.Glu126Lys		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.E126K	ENST00000380737.3	37	c.376	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.949061	0.97134	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42900	0.97;0.96	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.70736	0.3258	M	0.88241	2.94	0.80722	D	1	P;P	0.51791	0.948;0.934	D;P	0.65573	0.936;0.835	T	0.76801	-0.2825	10	0.87932	D	0	-17.8353	19.0947	0.93246	0.0:0.0:1.0:0.0	.	136;126	B4E1T7;P63151	.;2ABA_HUMAN	K	126;136	ENSP00000370113:E126K;ENSP00000325074:E136K	ENSP00000325074:E136K	E	+	1	0	PPP2R2A	26273631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.623000	0.98386	2.593000	0.87608	0.585000	0.79938	GAA	PPP2R2A	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.313	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	G	NM_002717		26217714	1	no_errors	ENST00000380737	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26217714	G	A	26217714	3	1	151	1	0	0	0	0	1	0	0	0	12411	1291	45	1	435	1	PPP2R2A	8	26217714	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	890260	26217714	120146308	419	25052										
PRKDC	5591	genome.wustl.edu	37	chr8	48701765	48701765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taaggcattaataaaatcttGaatcactcctccttgatcca	4	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:48701765G>C	ENST00000314191.2	-	76	10758	c.10702C>G	c.(10702-10704)Caa>Gaa	p.Q3568E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q3568E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3569					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAAATCTTGAATCACTCCT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													66	61	63					8																	48701765		1797	4063	5860	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10702C>G	8.37:g.48701765G>C	ENSP00000313420:p.Gln3568Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3568E	ENST00000314191.2	37	c.10702		8	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499300	0.12762	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02050	4.54;4.48	5.72	4.84	0.62591	.	0.114208	0.64402	D	0.000011	T	0.03178	0.0093	L	0.49640	1.575	0.45791	D	0.998678	B;B	0.14805	0.011;0.011	B;B	0.12837	0.008;0.007	T	0.38672	-0.9650	10	0.09590	T	0.72	.	15.8254	0.78703	0.0:0.136:0.864:0.0	.	3568;3569	E7EUY0;P78527	.;PRKDC_HUMAN	E	3568	ENSP00000313420:Q3568E;ENSP00000345182:Q3568E	ENSP00000313420:Q3568E	Q	-	1	0	PRKDC	48864318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.631000	0.54280	1.411000	0.46957	0.655000	0.94253	CAA	PRKDC	-	NULL		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48701765	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48701765	G	C	48701765	3	2	151	1	0	0	0	0	1	0	0	0	12548	1299	45	1	1729	1	PRKDC	8	48701765	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	22484051	48701765	97662257	420	25053										
SDR16C5	195814	genome.wustl.edu	37	chr8	57214059	57214059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttagagcttcttcttttggtCaacaaagccatccattgcat	6	10	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:57214059C>T	ENST00000303749.3	-	7	1547	c.910G>A	c.(910-912)Gac>Aac	p.D304N	SDR16C5_ENST00000522671.1_3'UTR|SDR16C5_ENST00000396721.2_Missense_Mutation_p.D260N	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	304					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTTTGGTCAACAAAGCCA	0.388																																																	0													229	213	218					8																	57214059		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.910G>A	8.37:g.57214059C>T	ENSP00000307607:p.Asp304Asn		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.D304N	ENST00000303749.3	37	c.910	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205746	0.39003	.	.	ENSG00000170786	ENST00000396721;ENST00000303749	T;D	0.81499	-1.22;-1.5	5.32	4.44	0.53790	.	0.314388	0.38326	N	0.001736	T	0.55832	0.1945	N	0.01352	-0.895	0.24800	N	0.992708	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.54516	-0.8282	10	0.62326	D	0.03	.	11.4258	0.50009	0.1803:0.8197:0.0:0.0	.	260;304	Q8N3Y7-2;Q8N3Y7	.;RDHE2_HUMAN	N	260;304	ENSP00000379947:D260N;ENSP00000307607:D304N	ENSP00000307607:D304N	D	-	1	0	SDR16C5	57376613	0.006000	0.16342	0.011000	0.14972	0.001000	0.01503	1.304000	0.33482	1.243000	0.43853	0.655000	0.94253	GAC	SDR16C5	-	NULL		0.388	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	C	NM_138969		57214059	-1	no_errors	ENST00000303749	ensembl	human	known	70_37	missense	SNP	0.034	T	T	57214059	C	T	57214059	3	4	151	1	0	0	0	0	1	0	0	0	14001	826	29	1	23	1	SDR16C5	8	57214059	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8512294	57214059	89149963	421	25054										
ARFGEF1	10565	genome.wustl.edu	37	chr8	68116935	68116935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtgctgcagctaagttttCtgcatcttctttcttacttg	7	10	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:68116935C>T	ENST00000262215.3	-	35	5328	c.4939G>A	c.(4939-4941)Gaa>Aaa	p.E1647K	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.E485K|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E1101K|ARFGEF1_ENST00000517955.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1647					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTAAGTTTTCTGCATCTTCT	0.443																																																	0													169	143	152					8																	68116935		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4939G>A	8.37:g.68116935C>T	ENSP00000262215:p.Glu1647Lys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1647K	ENST00000262215.3	37	c.4939	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312866	0.81358	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.53640	0.61;0.61;0.61	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.46157	1.445	0.80722	D	1	D;B;B;B	0.62365	0.991;0.047;0.212;0.047	P;B;B;B	0.58721	0.844;0.027;0.086;0.027	T	0.54417	-0.8297	10	0.42905	T	0.14	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	1647;1125;471;1101	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	K	1101;1647;485	ENSP00000428429:E1101K;ENSP00000262215:E1647K;ENSP00000430891:E485K	ENSP00000262215:E1647K	E	-	1	0	ARFGEF1	68279489	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.026000	0.70873	2.884000	0.98904	0.655000	0.94253	GAA	ARFGEF1	-	NULL		0.443	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	C	NM_006421		68116935	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68116935	C	T	68116935	3	4	151	1	0	0	0	0	1	0	0	0	852	922	32	1	630	1	ARFGEF1	8	68116935	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10902876	68116935	78247087	422	25055										
PREX2	80243	genome.wustl.edu	37	chr8	68995620	68995620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcttgtgagcacaaagccaaGagagtaagttgtatgattta	10	5	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:68995620G>A	ENST00000288368.4	+	18	2301	c.2024G>A	c.(2023-2025)aGa>aAa	p.R675K	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	675					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAAAGCCAAGAGAGTAAGTT	0.323																																																	0													85	83	84					8																	68995620		2203	4300	6503	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2024G>A	8.37:g.68995620G>A	ENSP00000288368:p.Arg675Lys		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R675K	ENST00000288368.4	37	c.2024	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980881	0.18812	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.58940	0.3	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.17474	0.49	0.80722	D	1	B;B;B	0.17852	0.024;0.004;0.007	B;B;B	0.18263	0.021;0.002;0.004	T	0.39881	-0.9592	10	0.02654	T	1	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	675;675;675	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	K	675	ENSP00000288368:R675K	ENSP00000288368:R675K	R	+	2	0	PREX2	69158174	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	9.374000	0.97172	2.885000	0.99019	0.655000	0.94253	AGA	PREX2	-	superfamily_PDZ		0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	G	NM_025170		68995620	1	no_errors	ENST00000288368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68995620	G	A	68995620	3	1	151	1	0	0	0	0	1	0	0	0	12504	942	33	1	2094	1	PREX2	8	68995620	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	878685	68995620	77368402	423	25056										
TERF1	7013	genome.wustl.edu	37	chr8	73932993	73932993	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttggggttcaattgaaaagGaacatgacaaacttcatgaa	9	5	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:73932993G>C	ENST00000276603.5	+	3	513	c.490G>C	c.(490-492)Gaa>Caa	p.E164Q	RNU6-285P_ENST00000410556.1_RNA|TERF1_ENST00000276602.6_Missense_Mutation_p.E164Q	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	164	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AATTGAAAAGGAACATGACAA	0.269																																																	0													37	35	35					8																	73932993		2201	4293	6494	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.490G>C	8.37:g.73932993G>C	ENSP00000276603:p.Glu164Gln		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E164Q	ENST00000276603.5	37	c.490	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887983	0.33348	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874;ENST00000517390	.	.	.	4.82	3.92	0.45320	Telomere repeat-binding factor, dimerisation domain (4);	0.320074	0.33438	N	0.004919	T	0.50667	0.1629	M	0.65498	2.005	0.37896	D	0.930878	B;B	0.29646	0.089;0.253	B;B	0.24848	0.021;0.056	T	0.55939	-0.8061	9	0.54805	T	0.06	.	6.9203	0.24385	0.0958:0.1795:0.7247:0.0	.	164;164	P54274-2;P54274	.;TERF1_HUMAN	Q	164;164;132;60	.	ENSP00000276602:E164Q	E	+	1	0	TERF1	74095547	1.000000	0.71417	0.985000	0.45067	0.977000	0.68977	2.841000	0.48223	1.110000	0.41699	0.467000	0.42956	GAA	TERF1	-	pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2		0.269	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G	NM_017489		73932993	1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.971	C	C	73932993	G	C	73932993	3	2	151	1	0	0	0	0	1	0	0	0	15791	1175	41	1	500	1	TERF1	8	73932993	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4937373	73932993	72431029	424	25057										
TERF1	7013	genome.wustl.edu	37	chr8	73958219	73958219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggctttgggaagaagacaaGaatttgagatctggcgtgag	15	4	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:73958219G>C	ENST00000276603.5	+	10	1190	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	TERF1_ENST00000276602.6_Missense_Mutation_p.K369N|RP11-531A24.7_ENST00000607665.1_RNA	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	389	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAGAAGACAAGAATTTGAGAT	0.328																																																	0													61	61	61					8																	73958219		2203	4300	6503	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1167G>C	8.37:g.73958219G>C	ENSP00000276603:p.Lys389Asn		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.K389N	ENST00000276603.5	37	c.1167	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752622	0.49362	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	T;T	0.46063	0.88;0.88	5.52	-2.72	0.05968	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.437653	0.27482	N	0.019165	T	0.15176	0.0366	N	0.03891	-0.335	0.31424	N	0.673961	B;P	0.47841	0.328;0.901	B;B	0.43990	0.191;0.438	T	0.30995	-0.9959	10	0.59425	D	0.04	.	0.6186	0.00774	0.2634:0.207:0.3191:0.2104	.	369;389	P54274-2;P54274	.;TERF1_HUMAN	N	389;369	ENSP00000276603:K389N;ENSP00000276602:K369N	ENSP00000276602:K369N	K	+	3	2	TERF1	74120773	0.921000	0.31238	0.932000	0.37286	0.989000	0.77384	0.280000	0.18790	-0.231000	0.09825	0.557000	0.71058	AAG	TERF1	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom		0.328	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G	NM_017489		73958219	1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.661	C	C	73958219	G	C	73958219	3	2	151	1	0	0	0	0	1	0	0	0	15791	933	33	1	1205	1	TERF1	8	73958219	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	25226	73958219	72405803	425	25058										
JPH1	56704	genome.wustl.edu	37	chr8	75227566	75227566	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacttggattcggacttgcgAagtttcatgcttccaagaag	11	8	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:75227566A>T	ENST00000342232.4	-	2	709	c.669T>A	c.(667-669)ctT>ctA	p.L223L		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	223					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGGACTTGCGAAGTTTCATGC	0.592																																																	0													68	74	72					8																	75227566		2203	4300	6503	SO:0001819	synonymous_variant	56704			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.669T>A	8.37:g.75227566A>T			B2RTZ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.L223	ENST00000342232.4	37	c.669	CCDS6217.1	8																																																																																			JPH1	-	pirsf_Junctophilin		0.592	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	A			75227566	-1	no_errors	ENST00000342232	ensembl	human	known	70_37	silent	SNP	0.152	T	T	75227566	A	T	75227566	2	4	151	1	0	0	0	0	0	0	0	1	7980	233	9	5		5	JPH1	8	75227566	Silent	SNP	A	TCGA-IR-A3LH-01A-21D-A20U-09	1269347	75227566	71136456	426	25059										
ZFHX4	79776	genome.wustl.edu	37	chr8	77767525	77767525	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atttaaatgcccctcctgctGaggctgggtatgatcaaaat	9	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:77767525G>A	ENST00000521891.2	+	10	8816	c.8368G>A	c.(8368-8370)Gag>Aag	p.E2790K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2764K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2745K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2745K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E2774K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTCCTGCTGAGGCTGGGTA	0.428										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											34	33	33					8																	77767525		1880	4130	6010	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8368G>A	8.37:g.77767525G>A	ENSP00000430497:p.Glu2790Lys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E2790K	ENST00000521891.2	37	c.8368	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021687	0.19433	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.78;0.77	4.97	4.97	0.65823	.	0.312656	0.22473	U	0.059588	T	0.39253	0.1071	L	0.27053	0.805	0.38416	D	0.946051	B;B;B	0.21520	0.01;0.016;0.057	B;B;B	0.28232	0.04;0.087;0.087	T	0.23726	-1.0180	10	0.20046	T	0.44	.	18.4163	0.90571	0.0:0.0:1.0:0.0	.	2745;2745;2790	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2790;2774;2745;2745;2764	ENSP00000430497:E2790K;ENSP00000399605:E2745K;ENSP00000050961:E2745K;ENSP00000430848:E2764K	ENSP00000050961:E2745K	E	+	1	0	ZFHX4	77930080	1.000000	0.71417	0.442000	0.26870	0.439000	0.31926	7.674000	0.83992	2.583000	0.87209	0.555000	0.69702	GAG	ZFHX4	-	NULL		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77767525	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	0.998	A	A	77767525	G	A	77767525	3	1	151	1	0	0	0	0	1	0	0	0	17665	1291	45	1	8402	1	ZFHX4	8	77767525	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2539959	77767525	68596497	427	25060										
ZFHX4	79776	genome.wustl.edu	37	chr8	77776073	77776073	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagacaaaagtactgctacaGaaagcacaaaagaagaaccc	7	9	0	4	rs267602007		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:77776073G>T	ENST00000521891.2	+	11	10571	c.10123G>T	c.(10123-10125)Gaa>Taa	p.E3375*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E3349*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E3326*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E3330*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACTGCTACAGAAAGCACAAA	0.413										HNSCC(33;0.089)																																							0													30	28	28					8																	77776073		1854	4080	5934	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10123G>T	8.37:g.77776073G>T	ENSP00000430497:p.Glu3375*		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E3375*	ENST00000521891.2	37	c.10123	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	51	18.507429	0.99906	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.5	4.5	0.54988	.	0.000000	0.45867	U	0.000336	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.3934	0.87439	0.0:0.0:1.0:0.0	.	.	.	.	X	3375;3359;3330;3326;3349	.	ENSP00000050961:E3326X	E	+	1	0	ZFHX4	77938628	1.000000	0.71417	0.961000	0.40146	0.973000	0.67179	7.668000	0.83897	2.354000	0.79902	0.609000	0.83330	GAA	ZFHX4	-	NULL		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77776073	1	no_errors	ENST00000521891	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	77776073	G	T	77776073	4	4	151	1	0	0	0	0	0	1	0	0	17665	943	33	3	10161	3	ZFHX4	8	77776073	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8548	77776073	68587949	428	25061										
SPAG1	6674	genome.wustl.edu	37	chr8	101178126	101178126	+	Silent	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcccctgaaagcagagctttGaggaaagataaaccagcagc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:101178126G>A	ENST00000388798.2	+	3	416	c.225G>A	c.(223-225)ttG>ttA	p.L75L	SPAG1_ENST00000520508.1_Silent_p.L75L|SPAG1_ENST00000251809.3_Silent_p.L75L|SPAG1_ENST00000520643.1_Silent_p.L75L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	75					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L75L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCAGAGCTTTGAGGAAAGATA	0.363																																																	1	Substitution - coding silent(1)	lung(1)											67	68	67					8																	101178126		2203	4300	6503	SO:0001819	synonymous_variant	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.225G>A	8.37:g.101178126G>A			A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L75	ENST00000388798.2	37	c.225	CCDS34930.1	8																																																																																			SPAG1	-	NULL		0.363	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	G	NM_172218		101178126	1	no_errors	ENST00000251809	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101178126	G	A	101178126	2	1	151	1	0	0	0	0	0	0	0	1	15005	1281	45	1		1	SPAG1	8	101178126	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	23402053	101178126	45185896	429	25062	143	2								
SPAG1	6674	genome.wustl.edu	37	chr8	101178133	101178133	+	Missense_Mutation	SNP	G	G	C													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaagcagagctttgaggaaaGataaaccagcagcaacagca							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:101178133G>C	ENST00000388798.2	+	3	423	c.232G>C	c.(232-234)Gat>Cat	p.D78H	SPAG1_ENST00000520508.1_Missense_Mutation_p.D78H|SPAG1_ENST00000251809.3_Missense_Mutation_p.D78H|SPAG1_ENST00000520643.1_Missense_Mutation_p.D78H	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	78					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTTGAGGAAAGATAAACCAGC	0.368																																																	0													69	70	69					8																	101178133		2203	4300	6503	SO:0001583	missense	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.232G>C	8.37:g.101178133G>C	ENSP00000373450:p.Asp78His		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D78H	ENST00000388798.2	37	c.232	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501187	0.85176	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.68	5.68	0.88126	.	0.107337	0.64402	D	0.000008	T	0.43077	0.1231	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.69142	0.927;0.962	T	0.24190	-1.0167	10	0.72032	D	0.01	-20.6197	18.549	0.91057	0.0:0.0:1.0:0.0	.	78;78	Q07617;G3XAM3	SPAG1_HUMAN;.	H	78	ENSP00000427716:D78H;ENSP00000251809:D78H;ENSP00000428070:D78H;ENSP00000373450:D78H	ENSP00000251809:D78H	D	+	1	0	SPAG1	101247309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.410000	0.90225	2.681000	0.91329	0.563000	0.77884	GAT	SPAG1	-	NULL		0.368	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	G	NM_172218		101178133	1	no_errors	ENST00000251809	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101178133	G	C	101178133	3	2	151	1	0	0	0	0	1	0	0	0	15005	942	33	1	238	1	SPAG1	8	101178133	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7	101178133	45185889	430	25063	143	2								
UBR5	51366	genome.wustl.edu	37	chr8	103338802	103338802	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caacagtgatgttcggcattGaagaaataccagcactggat	10	8	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:103338802G>A	ENST00000520539.1	-	13	2177	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	UBR5_ENST00000521922.1_Missense_Mutation_p.S518L|UBR5_ENST00000220959.4_Missense_Mutation_p.S524L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	524					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTTCGGCATTGAAGAAATACC	0.398																																					Ovarian(131;96 1741 5634 7352 27489)												0													231	200	210					8																	103338802		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1571C>T	8.37:g.103338802G>A	ENSP00000429084:p.Ser524Leu		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.S524L	ENST00000520539.1	37	c.1571	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	30	5.055779	0.93793	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.50813	0.73;0.73;0.73	5.17	5.17	0.71159	.	0.145703	0.48286	D	0.000189	T	0.52741	0.1753	L	0.27053	0.805	0.80722	D	1	P;P	0.40431	0.717;0.717	P;P	0.52217	0.693;0.693	T	0.57004	-0.7885	10	0.87932	D	0	.	19.045	0.93016	0.0:0.0:1.0:0.0	.	518;524	E7EMW7;O95071	.;UBR5_HUMAN	L	524;524;518	ENSP00000429084:S524L;ENSP00000220959:S524L;ENSP00000427819:S518L	ENSP00000220959:S524L	S	-	2	0	UBR5	103407978	1.000000	0.71417	0.990000	0.47175	0.885000	0.51271	9.373000	0.97168	2.567000	0.86603	0.454000	0.30748	TCA	UBR5	-	NULL		0.398	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103338802	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103338802	G	A	103338802	3	1	151	1	0	0	0	0	1	0	0	0	16936	1294	45	1	7016	1	UBR5	8	103338802	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2160669	103338802	43025220	431	25064										
EXT1	2131	genome.wustl.edu	37	chr8	118825165	118825165	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgagcacggcgtctgtgatGatgttgtcgtagggcagaaa	15	7	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:118825165G>A	ENST00000378204.2	-	8	2474	c.1668C>T	c.(1666-1668)atC>atT	p.I556I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	556					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CGTCTGTGATGATGTTGTCGT	0.537			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													162	124	137					8																	118825165		2203	4300	6503	SO:0001819	synonymous_variant	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1668C>T	8.37:g.118825165G>A			B2R7V2|Q9BVI9	Silent	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.I556	ENST00000378204.2	37	c.1668	CCDS6324.1	8																																																																																			EXT1	-	pfam_HexNAc_Trfase_a		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	G	NM_000127		118825165	-1	no_errors	ENST00000378204	ensembl	human	known	70_37	silent	SNP	0.084	A	A	118825165	G	A	118825165	2	1	151	1	0	0	0	0	0	0	0	1	5335	1280	45	1		1	EXT1	8	118825165	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	15486363	118825165	27538857	432	25065										
TNFRSF11B	4982	genome.wustl.edu	37	chr8	119936712	119936712	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgaagctgtgaaggaacctGatggtcttctttagactctg	12	7	3	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:119936712G>C	ENST00000297350.4	-	5	1485	c.1107C>G	c.(1105-1107)atC>atG	p.I369M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	369					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAAGGAACCTGATGGTCTTCT	0.403																																																	0													214	213	213					8																	119936712		2203	4300	6503	SO:0001583	missense	4982			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.1107C>G	8.37:g.119936712G>C	ENSP00000297350:p.Ile369Met		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_11B,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B,prints_TNFR_11	p.I369M	ENST00000297350.4	37	c.1107	CCDS6326.1	8	.	.	.	.	.	.	.	.	.	.	G	8.114	0.779474	0.16120	.	.	ENSG00000164761	ENST00000297350	D	0.93763	-3.28	5.69	3.88	0.44766	.	0.331422	0.32081	N	0.006616	D	0.82669	0.5087	N	0.14661	0.345	0.24957	N	0.991758	B	0.16396	0.017	B	0.13407	0.009	T	0.67260	-0.5715	9	.	.	.	-21.3416	2.9909	0.05982	0.1374:0.1215:0.4942:0.247	.	369	O00300	TR11B_HUMAN	M	369	ENSP00000297350:I369M	.	I	-	3	3	TNFRSF11B	120005893	1.000000	0.71417	0.872000	0.34217	0.709000	0.40893	1.544000	0.36158	0.748000	0.32831	0.655000	0.94253	ATC	TNFRSF11B	-	superfamily_DEATH-like,pirsf_TNFR_11B		0.403	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	HGNC	protein_coding	OTTHUMT00000381220.1	G			119936712	-1	no_errors	ENST00000297350	ensembl	human	known	70_37	missense	SNP	0.756	C	C	119936712	G	C	119936712	3	2	151	1	0	0	0	0	1	0	0	0	16315	1280	45	1	102	1	TNFRSF11B	8	119936712	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1111547	119936712	26427310	433	25066										
ZHX1	11244	genome.wustl.edu	37	chr8	124266326	124266326	+	Nonsense_Mutation	SNP	T	T	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcctttaaagcttttgattTcttcttctctgtaaaccaag							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:124266326T>A	ENST00000522655.1	-	3	2401	c.1861A>T	c.(1861-1863)Aaa>Taa	p.K621*	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.K621*|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K621*			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	621					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTTTTGATTTCTTCTTCTCT	0.373																																																	0													116	123	121					8																	124266326		2203	4300	6503	SO:0001587	stop_gained	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1861A>T	8.37:g.124266326T>A	ENSP00000428821:p.Lys621*		Q8IWD8	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K621*	ENST00000522655.1	37	c.1861	CCDS6342.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	44|44	11.242366|11.242366	0.99536|0.99536	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.046841|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71542	.|0.3352	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73802	.|-0.3868	.|3	0.02654|.	T|.	1|.	-28.4528|-28.4528	15.7778|15.7778	0.78236|0.78236	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|S	621|305	.|.	ENSP00000297857:K621X|.	K|R	-|-	1|3	0|2	ZHX1|ZHX1	124335507|124335507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.240000|7.240000	0.78192|0.78192	2.313000|2.313000	0.78055|0.78055	0.454000|0.454000	0.30748|0.30748	AAA|AGA	ZHX1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.373	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	T			124266326	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	124266326	T	A	124266326	4	1	151	1	0	0	0	0	0	1	0	0	17705	1792	62	5	764	5	ZHX1	8	124266326	Nonsense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	4329614	124266326	22097696	434	25067	144	2								
ZHX1	11244	genome.wustl.edu	37	chr8	124266335	124266335	+	Missense_Mutation	SNP	C	C	G													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcttttgatttcttcttctCtgtaaaccaagcatcgattt							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:124266335C>G	ENST00000522655.1	-	3	2392	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.E618Q|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.E618Q			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	618					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCTTCTTCTCTGTAAACCAA	0.373																																																	0													116	121	119					8																	124266335		2203	4300	6503	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1852G>C	8.37:g.124266335C>G	ENSP00000428821:p.Glu618Gln		Q8IWD8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E618Q	ENST00000522655.1	37	c.1852	CCDS6342.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.330627|4.330627	0.81690|0.81690	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	D;D;D|.	0.96104|.	-3.91;-3.91;-3.91|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.122628|.	0.64402|.	D|.	0.000012|.	T|T	0.75554|0.75554	0.3865|0.3865	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.72649|0.72649	-0.4229|-0.4229	9|4	0.72032|.	D|.	0.01|.	-17.7966|-17.7966	19.5944|19.5944	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	618|.	Q9UKY1|.	ZHX1_HUMAN|.	Q|H	618|302	ENSP00000297857:E618Q;ENSP00000378938:E618Q;ENSP00000428821:E618Q|.	ENSP00000297857:E618Q|.	E|Q	-|-	1|3	0|2	ZHX1|ZHX1	124335516|124335516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.043000|7.043000	0.76572|0.76572	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAG|CAG	ZHX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.373	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	C			124266335	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124266335	C	G	124266335	3	3	151	1	0	0	0	0	1	0	0	0	17705	922	32	1	773	1	ZHX1	8	124266335	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9	124266335	22097687	435	25068	144	2								
FAM91A1	157769	genome.wustl.edu	37	chr8	124824814	124824814	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagtttttcaagtttgctttCacagtcatcgtgtgctgaca	8	9	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:124824814C>T	ENST00000334705.7	+	24	2633	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L		NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	796										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AGTTTGCTTTCACAGTCATCG	0.388																																																	0													128	114	118					8																	124824814		1834	4079	5913	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.2387C>T	8.37:g.124824814C>T	ENSP00000335082:p.Ser796Leu		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.S796L	ENST00000334705.7	37	c.2387	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325518	0.24080	.	.	ENSG00000176853	ENST00000334705	T	0.30714	1.52	5.89	5.89	0.94794	.	0.211314	0.49916	D	0.000140	T	0.13713	0.0332	N	0.02225	-0.63	0.52099	D	0.999946	B	0.02656	0.0	B	0.08055	0.003	T	0.20371	-1.0277	10	0.21540	T	0.41	.	13.8763	0.63655	0.0:0.9219:0.0:0.0781	.	796	Q658Y4	F91A1_HUMAN	L	796	ENSP00000335082:S796L	ENSP00000335082:S796L	S	+	2	0	FAM91A1	124893995	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	4.680000	0.61656	2.793000	0.96121	0.655000	0.94253	TCA	FAM91A1	-	NULL		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	C	NM_144963		124824814	1	no_errors	ENST00000334705	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124824814	C	T	124824814	3	4	151	1	0	0	0	0	1	0	0	0	5669	838	29	1	2481	1	FAM91A1	8	124824814	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	558479	124824814	21539208	436	25069										
GSDMC	56169	genome.wustl.edu	37	chr8	130762759	130762759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgacatcctgaacatcctttGagagctgagccagtgtcttt	9	10	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:130762759G>A	ENST00000276708.4	-	11	1882	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	334						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACATCCTTTGAGAGCTGAGC	0.498																																																	0													135	120	125					8																	130762759		2203	4300	6503	SO:0001583	missense	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1001C>T	8.37:g.130762759G>A	ENSP00000276708:p.Ser334Leu		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.S334L	ENST00000276708.4	37	c.1001	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248251	0.59103	.	.	ENSG00000147697	ENST00000276708	T	0.26373	1.74	5.35	4.48	0.54585	.	0.396062	0.20847	N	0.084595	T	0.44350	0.1289	M	0.64567	1.98	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.26121	-1.0112	10	0.66056	D	0.02	.	9.938	0.41563	0.0916:0.0:0.9084:0.0	.	334	Q9BYG8	GSDMC_HUMAN	L	334	ENSP00000276708:S334L	ENSP00000276708:S334L	S	-	2	0	GSDMC	130831941	0.027000	0.19231	0.005000	0.12908	0.010000	0.07245	2.536000	0.45693	1.494000	0.48533	0.591000	0.81541	TCA	GSDMC	-	pfam_Gasdermin		0.498	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	G			130762759	-1	no_errors	ENST00000276708	ensembl	human	known	70_37	missense	SNP	0.004	A	A	130762759	G	A	130762759	3	1	151	1	0	0	0	0	1	0	0	0	6838	1294	45	1	541	1	GSDMC	8	130762759	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5937945	130762759	15601263	437	25070										
MAPK15	225689	genome.wustl.edu	37	chr8	144801298	144801299	+	Missense_Mutation	DNP	GC	GC	TT													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggccacacgctggtaccgaGcaccggaggtgctgctctct							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144801298_144801299GC>TT	ENST00000338033.4	+	6	672_673	c.553_554GC>TT	c.(553-555)GCa>TTa	p.A185L	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.A202L|MAPK15_ENST00000395108.2_Missense_Mutation_p.A185L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGTACCGAGCACCGGAGGTG	0.683																																																	0																																										SO:0001583	missense	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	Exception_encountered	8.37:g.144801298_144801299delinsTT	ENSP00000337691:p.Ala185Leu		Q2TCF9|Q8N362	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.A185S|p.A185V	ENST00000338033.4	37	c.553|c.554	CCDS6409.2	8																																																																																			MAPK15	-	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		0.683	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	G|C	NM_139021		144801298|144801299	1	no_errors	ENST00000338033	ensembl	human	known	70_37	missense	SNP	1.000	T	TT	144801299	GC	TT	144801298	3	4	151	1	0	0	0	0	1	0	0	0	9300	971	34	4	575	4	MAPK15	8	144801298	Missense_Mutation	DNP	GC	TCGA-IR-A3LH-01A-21D-A20U-09	14038539	144801298	1562724	438	25071										
EPPK1	83481	genome.wustl.edu	37	chr8	144940827	144940827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctccgtcccgtttccaggtCctggagcatttcctccgtga	10	15	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144940827C>T	ENST00000525985.1	-	2	6666	c.6595G>A	c.(6595-6597)Gac>Aac	p.D2199N				P58107	EPIPL_HUMAN	epiplakin 1	2199						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTTTCCAGGTCCTGGAGCATT	0.582																																																	0													201	210	207					8																	144940827		2036	4189	6225	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6595G>A	8.37:g.144940827C>T	ENSP00000436337:p.Asp2199Asn		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.D2199N	ENST00000525985.1	37	c.6595		8	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178301	0.21787	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.66	2.78	0.32641	.	.	.	.	.	T	0.62696	0.2449	M	0.62723	1.935	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.51450	-0.8704	9	0.28530	T	0.3	.	12.4602	0.55727	0.0:0.6761:0.3239:0.0	.	2199	E9PPU0	.	N	2199	ENSP00000436337:D2199N	ENSP00000436337:D2199N	D	-	1	0	EPPK1	145012815	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.267000	0.08619	0.526000	0.28541	0.585000	0.79938	GAC	EPPK1	-	NULL		0.582	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144940827	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.001	T	T	144940827	C	T	144940827	3	4	151	1	0	0	0	0	1	0	0	0	5202	855	30	1	671	1	EPPK1	8	144940827	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	139529	144940827	1423195	439	25072										
EPPK1	83481	genome.wustl.edu	37	chr8	144943471	144943471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccgccctctcggcctgcccGagctgctcactcagctccct	9	21	3	0	rs369368390		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144943471G>A	ENST00000525985.1	-	2	4022	c.3951C>T	c.(3949-3951)ctC>ctT	p.L1317L				P58107	EPIPL_HUMAN	epiplakin 1	1317						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCCTGCCCGAGCTGCTCAC	0.647																																																	0								A		2,3902		0,2,1950	52	60	57		3951	-2.6	0	8		57	0,8248		0,0,4124	no	coding-synonymous	EPPK1	NM_031308.1		0,2,6074	AA,AG,GG		0.0,0.0512,0.0165		1317/2420	144943471	2,12150	1952	4124	6076	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3951C>T	8.37:g.144943471G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1317	ENST00000525985.1	37	c.3951		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144943471	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.000	A	A	144943471	G	A	144943471	2	1	151	1	0	0	0	0	0	0	0	1	5202	1045	37	1		1	EPPK1	8	144943471	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2644	144943471	1420551	440	25073										
PLEC	5339	genome.wustl.edu	37	chr8	144994196	144994196	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caacagctcctgccgctgctCcgcagtgaagtactcagagc	10	15	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144994196C>G	ENST00000322810.4	-	32	10373	c.10204G>C	c.(10204-10206)Gag>Cag	p.E3402Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E3288Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3265Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3265Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3233Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3251Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3269Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3292Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3243Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3402	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCGCTGCTCCGCAGTGAAG	0.587																																																	0													57	65	62					8																	144994196		2172	4268	6440	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10204G>C	8.37:g.144994196C>G	ENSP00000323856:p.Glu3402Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E3402Q	ENST00000322810.4	37	c.10204	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452028	0.26074	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78924	-1.18;-1.18;-1.22;-1.21;-1.2;-1.18;-1.18;-1.18;-1.18	4.76	4.76	0.60689	.	0.000000	0.64402	U	0.000006	D	0.83018	0.5163	M	0.66939	2.045	0.53688	D	0.999976	D;D;D;D;D;D;D;D	0.54397	0.963;0.963;0.963;0.966;0.963;0.963;0.963;0.963	P;P;P;P;P;P;P;P	0.52424	0.698;0.698;0.698;0.502;0.698;0.698;0.698;0.698	D	0.84991	0.0894	10	0.54805	T	0.06	.	17.7535	0.88442	0.0:1.0:0.0:0.0	.	3292;3251;3243;3402;3233;3265;3269;3265	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3265;3269;3265;3233;3402;3243;3251;3292;3288	ENSP00000344848:E3265Q;ENSP00000350277:E3269Q;ENSP00000346602:E3265Q;ENSP00000381756:E3233Q;ENSP00000323856:E3402Q;ENSP00000347044:E3243Q;ENSP00000348702:E3251Q;ENSP00000388180:E3292Q;ENSP00000434583:E3288Q	ENSP00000323856:E3402Q	E	-	1	0	PLEC	145066184	1.000000	0.71417	0.838000	0.33150	0.395000	0.30598	5.686000	0.68211	2.322000	0.78497	0.448000	0.29417	GAG	PLEC	-	NULL		0.587	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144994196	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144994196	C	G	144994196	3	3	151	1	0	0	0	0	1	0	0	0	12076	864	30	1	3854	1	PLEC	8	144994196	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	50725	144994196	1369826	441	25074										
PLEC	5339	genome.wustl.edu	37	chr8	144996497	144996497	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtagcaggctgtccttttCagagaggaagctttgctgca	12	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144996497C>A	ENST00000322810.4	-	32	8072	c.7903G>T	c.(7903-7905)Gaa>Taa	p.E2635*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2521*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2498*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2498*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2466*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2484*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2502*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2525*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2476*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2635	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTCCTTTTCAGAGAGGAAG	0.617																																																	0													25	28	27					8																	144996497		2095	4208	6303	SO:0001587	stop_gained	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7903G>T	8.37:g.144996497C>A	ENSP00000323856:p.Glu2635*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2635*	ENST00000322810.4	37	c.7903	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	c	47	13.596326	0.99752	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.38	4.38	0.52667	.	0.080901	0.46442	U	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.7261	0.85422	0.0:1.0:0.0:0.0	.	.	.	.	X	2498;2502;2498;2466;2635;2476;2484;2525;2521	.	ENSP00000323856:E2635X	E	-	1	0	PLEC	145068485	1.000000	0.71417	0.931000	0.37212	0.162000	0.22319	7.497000	0.81536	2.289000	0.77006	0.443000	0.29094	GAA	PLEC	-	NULL		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996497	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	144996497	C	A	144996497	4	1	151	1	0	0	0	0	0	1	0	0	12076	835	29	3	6155	3	PLEC	8	144996497	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2301	144996497	1367525	442	25075										
PLEC	5339	genome.wustl.edu	37	chr8	144997454	144997454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgtgcggcctccgtggcctCcgccttcagccgctgcagct	13	18	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144997454C>G	ENST00000322810.4	-	31	7223	c.7054G>C	c.(7054-7056)Gag>Cag	p.E2352Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2238Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2215Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2215Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2183Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2201Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2219Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2242Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2193Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2352	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCGTGGCCTCCGCCTTCAGC	0.667																																																	0													14	15	15					8																	144997454		2124	4225	6349	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7054G>C	8.37:g.144997454C>G	ENSP00000323856:p.Glu2352Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2352Q	ENST00000322810.4	37	c.7054	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	8.157	0.788703	0.16258	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78364	-1.14;-1.14;-1.17;-1.17;-1.15;-1.14;-1.06;-1.14;-1.14	5.11	5.11	0.69529	.	0.000000	0.64402	U	0.000006	T	0.81019	0.4736	M	0.72894	2.215	0.50313	D	0.999864	P;P;P;P;P;P;P;P	0.51537	0.946;0.946;0.946;0.911;0.946;0.946;0.946;0.946	P;P;P;B;P;P;P;P	0.46253	0.509;0.509;0.509;0.311;0.509;0.509;0.509;0.509	D	0.83626	0.0142	10	0.54805	T	0.06	.	18.1196	0.89567	0.0:1.0:0.0:0.0	.	2242;2201;2193;2352;2183;2215;2219;2215	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2215;2219;2215;2183;2352;2193;2201;2242;2238	ENSP00000344848:E2215Q;ENSP00000350277:E2219Q;ENSP00000346602:E2215Q;ENSP00000381756:E2183Q;ENSP00000323856:E2352Q;ENSP00000347044:E2193Q;ENSP00000348702:E2201Q;ENSP00000388180:E2242Q;ENSP00000434583:E2238Q	ENSP00000323856:E2352Q	E	-	1	0	PLEC	145069442	1.000000	0.71417	0.713000	0.30519	0.229000	0.25112	4.695000	0.61767	2.372000	0.80975	0.549000	0.68633	GAG	PLEC	-	NULL		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997454	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.998	G	G	144997454	C	G	144997454	3	3	151	1	0	0	0	0	1	0	0	0	12076	864	30	1	7008	1	PLEC	8	144997454	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	957	144997454	1366568	443	25076										
PLEC	5339	genome.wustl.edu	37	chr8	145003949	145003949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaggcctggtagtgcagctCcaggctgtgcagggcttggc	17	10	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145003949C>G	ENST00000322810.4	-	23	3368	c.3199G>C	c.(3199-3201)Gag>Cag	p.E1067Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E953Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E930Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E930Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E898Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E916Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E934Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E957Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E908Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1067	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAGTGCAGCTCCAGGCTGTGC	0.711																																																	0													10	13	12					8																	145003949		2053	4131	6184	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3199G>C	8.37:g.145003949C>G	ENSP00000323856:p.Glu1067Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E1067Q	ENST00000322810.4	37	c.3199	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724995	0.30593	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77877	-1.1;-1.09;-1.13;-1.12;-1.11;-1.09;-1.09;-1.09;-1.09	4.79	4.79	0.61399	.	0.000000	0.64402	U	0.000015	T	0.66752	0.2821	N	0.17082	0.46	0.46564	D	0.999102	P;P;P;P;P;P;P;P	0.45715	0.865;0.865;0.865;0.787;0.865;0.865;0.865;0.865	B;B;B;B;B;B;B;B	0.42555	0.391;0.391;0.391;0.219;0.391;0.391;0.391;0.391	T	0.67522	-0.5649	10	0.28530	T	0.3	.	17.4376	0.87557	0.0:1.0:0.0:0.0	.	957;916;908;1067;898;930;934;930	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	930;934;930;898;1067;908;916;957;953	ENSP00000344848:E930Q;ENSP00000350277:E934Q;ENSP00000346602:E930Q;ENSP00000381756:E898Q;ENSP00000323856:E1067Q;ENSP00000347044:E908Q;ENSP00000348702:E916Q;ENSP00000388180:E957Q;ENSP00000434583:E953Q	ENSP00000323856:E1067Q	E	-	1	0	PLEC	145075937	0.996000	0.38824	1.000000	0.80357	0.513000	0.34164	1.573000	0.36472	2.198000	0.70561	0.551000	0.68910	GAG	PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145003949	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145003949	C	G	145003949	3	3	151	1	0	0	0	0	1	0	0	0	12076	864	30	1	10895	1	PLEC	8	145003949	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6495	145003949	1360073	444	25077										
CYHR1	50626	genome.wustl.edu	37	chr8	145690218	145690218	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtgctcacggctgcgtgcaGagacaccactcccagcacca	10	16	1	1	rs200023926|rs370100015		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145690218G>C	ENST00000438911.2	-	1	200	c.67C>G	c.(67-69)Ctg>Gtg	p.L23V	KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000530374.1_5'Flank|CYHR1_ENST00000424149.2_Missense_Mutation_p.L23V|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000403000.2_Missense_Mutation_p.L23V|CYHR1_ENST00000306145.5_Missense_Mutation_p.L23V	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	23						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGCGTGCAGAGACACCACT	0.632																																																	0													39	40	39					8																	145690218		2201	4298	6499	SO:0001583	missense	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"cysteine and histidine rich 1"			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.67C>G	8.37:g.145690218G>C	ENSP00000387426:p.Leu23Val		B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	superfamily_TRAF-like,pfscan_Znf_TRAF	p.L23V	ENST00000438911.2	37	c.67	CCDS47943.1	8	.	.	.	.	.	.	.	.	.	.	g	19.28	3.798062	0.70567	.	.	ENSG00000187954	ENST00000438911;ENST00000526887;ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764;ENST00000530637	T;T;T;T;T;T;T	0.75260	1.04;-0.92;1.04;1.04;1.04;1.04;1.04	4.44	4.44	0.53790	.	0.000000	0.44483	U	0.000455	T	0.79969	0.4538	L	0.39898	1.24	0.24361	N	0.994877	D;P	0.67145	0.996;0.88	D;P	0.79108	0.992;0.899	T	0.72100	-0.4392	10	0.87932	D	0	-2.8771	12.9268	0.58264	0.0:0.0:1.0:0.0	.	23;23	Q6ZMK1-3;Q6ZMK1	.;CYHR1_HUMAN	V	23	ENSP00000387426:L23V;ENSP00000434470:L23V;ENSP00000385962:L23V;ENSP00000414647:L23V;ENSP00000304826:L23V;ENSP00000432902:L23V;ENSP00000434642:L23V	ENSP00000304826:L23V	L	-	1	2	CYHR1	145661026	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.096000	0.41738	2.190000	0.69967	0.556000	0.70494	CTG	CYHR1	-	NULL		0.632	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	G	NM_032687		145690218	-1	no_errors	ENST00000438911	ensembl	human	known	70_37	missense	SNP	1.000	C	C	145690218	G	C	145690218	3	2	151	1	0	0	0	0	1	0	0	0	4145	933	33	1	1374	1	CYHR1	8	145690218	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	686269	145690218	673804	445	25078										
ZNF251	90987	genome.wustl.edu	37	chr8	145948193	145948193	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttctccagtgtgaattctCcgatgaagacggaggtgaga	12	7	2	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145948193C>G	ENST00000292562.7	-	5	1127	c.852G>C	c.(850-852)cgG>cgC	p.R284R	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTGAATTCTCCGATGAAGAC	0.428																																																	0													63	69	67					8																	145948193		2101	4259	6360	SO:0001819	synonymous_variant	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.852G>C	8.37:g.145948193C>G			Q2M219	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R284	ENST00000292562.7	37	c.852	CCDS47944.1	8																																																																																			ZNF251	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	C	NM_138367		145948193	-1	no_errors	ENST00000292562	ensembl	human	known	70_37	silent	SNP	0.995	G	G	145948193	C	G	145948193	2	3	151	1	0	0	0	0	0	0	0	1	17826	842	30	1		1	ZNF251	8	145948193	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	257975	145948193	415829	446	25079										
ZNF517	340385	genome.wustl.edu	37	chr8	146032959	146032959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccttcaagcaaagctccatcCtgctgcggcaccagctgatc	8	16	1	1	rs376336312		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:146032959C>T	ENST00000531720.1	+	4	703	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Silent_p.L220L			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AAGCTCCATCCTGCTGCGGCA	0.632																																																	0								C		1,4401		0,1,2200	39	34	36		658	2.7	1	8		36	0,8600		0,0,4300	no	coding-synonymous	ZNF517	NM_213605.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		220/493	146032959	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	340385			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.658C>T	8.37:g.146032959C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L220	ENST00000531720.1	37	c.658	CCDS6434.1	8																																																																																			ZNF517	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF517	HGNC	protein_coding	OTTHUMT00000382642.1	C	XM_291261		146032959	1	no_errors	ENST00000359971	ensembl	human	known	70_37	silent	SNP	1.000	T	T	146032959	C	T	146032959	2	4	151	1	0	0	0	0	0	0	0	1	17991	680	24	4		4	ZNF517	8	146032959	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	84766	146032959	331063	447	25080										
GLIS3	169792	genome.wustl.edu	37	chr9	3829394	3829394	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtagggactaggcagtcctCaaacgaaggcaccacactgc	11	12	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:3829394C>A	ENST00000324333.10	-	9	2300	c.2107G>T	c.(2107-2109)Gag>Tag	p.E703*	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Nonsense_Mutation_p.E858*	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	703					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCAGTCCTCAAACGAAGGC	0.542																																																	0													112	94	100					9																	3829394		2203	4300	6503	SO:0001587	stop_gained	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2107G>T	9.37:g.3829394C>A	ENSP00000325494:p.Glu703*		B1AL19|Q1PHK5	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E858*	ENST00000324333.10	37	c.2572	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	c	46	12.333613	0.99658	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	.	.	.	5.93	5.93	0.95920	.	0.000000	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.9313	0.97120	0.0:1.0:0.0:0.0	.	.	.	.	X	703;858	.	ENSP00000325494:E703X	E	-	1	0	GLIS3	3819394	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.581000	0.67471	2.814000	0.96858	0.563000	0.77884	GAG	GLIS3	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	C	NM_152629		3829394	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3829394	C	A	3829394	4	1	151	1	0	0	0	0	0	1	0	0	6466	835	29	3	228	3	GLIS3	9	3829394	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		3829394	137384037	448	25081										
RLN1	6013	genome.wustl.edu	37	chr9	5335539	5335539	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccggtggcaaattagcaatGaattccaacatgataattat	7	7	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:5335539G>C	ENST00000223862.1	-	2	396	c.270C>G	c.(268-270)ttC>ttG	p.F90L	RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	90					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AATTAGCAATGAATTCCAACA	0.383																																																	0													79	78	78					9																	5335539		2203	4300	6503	SO:0001583	missense	6013				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.270C>G	9.37:g.5335539G>C	ENSP00000223862:p.Phe90Leu		Q99936|Q9UQJ1	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.F90L	ENST00000223862.1	37	c.270	CCDS6462.1	9	.	.	.	.	.	.	.	.	.	.	G	0.783	-0.761652	0.02996	.	.	ENSG00000107018	ENST00000223862	T	0.16743	2.32	2.62	1.65	0.23941	Insulin-like (3);	2.589200	0.01385	N	0.013063	T	0.13628	0.0330	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.27938	-1.0059	10	0.11182	T	0.66	.	7.2146	0.25953	0.0:0.279:0.721:0.0	.	90	P04808	REL1_HUMAN	L	90	ENSP00000223862:F90L	ENSP00000223862:F90L	F	-	3	2	RLN1	5325539	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.124000	0.10595	0.651000	0.30788	0.388000	0.25769	TTC	RLN1	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.383	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	HGNC	protein_coding	OTTHUMT00000051617.1	G			5335539	-1	no_errors	ENST00000223862	ensembl	human	known	70_37	missense	SNP	0.001	C	C	5335539	G	C	5335539	3	2	151	1	0	0	0	0	1	0	0	0	13421	1281	45	1	291	1	RLN1	9	5335539	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1506145	5335539	135877892	449	25082										
KIAA2026	158358	genome.wustl.edu	37	chr9	5923119	5923119	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctagattctcaactgttgtCtcatttgtgcttaactttgc	6	9	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:5923119C>G	ENST00000399933.3	-	8	2876	c.2877G>C	c.(2875-2877)gaG>gaC	p.E959D	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E929D	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	959										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAACTGTTGTCTCATTTGTGC	0.388																																																	0													199	188	192					9																	5923119		1937	4156	6093	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2877G>C	9.37:g.5923119C>G	ENSP00000382815:p.Glu959Asp		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.E959D	ENST00000399933.3	37	c.2877		9	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677455	0.29783	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.27	0.699	0.18093	.	0.000000	0.64402	D	0.000010	T	0.26557	0.0649	L	0.32530	0.975	0.24950	N	0.991791	B	0.24576	0.106	B	0.26770	0.073	T	0.12863	-1.0531	9	0.40728	T	0.16	-8.4048	4.8451	0.13510	0.1339:0.5046:0.0:0.3615	.	959	Q5HYC2	K2026_HUMAN	D	959;929	.	ENSP00000370870:E929D	E	-	3	2	KIAA2026	5913119	0.004000	0.15560	0.552000	0.28243	0.784000	0.44337	-0.042000	0.12063	-0.164000	0.10927	0.313000	0.20887	GAG	KIAA2026	-	NULL		0.388	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		5923119	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	0.851	G	G	5923119	C	G	5923119	3	3	151	1	0	0	0	0	1	0	0	0	8290	912	32	1	3438	1	KIAA2026	9	5923119	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	587580	5923119	135290312	450	25083										
RANBP6	26953	genome.wustl.edu	37	chr9	6013147	6013147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttttcttcctgtcttttcaCctgtctcaattcttggtttt	5	10	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:6013147C>G	ENST00000259569.5	-	1	2471	c.2461G>C	c.(2461-2463)Gtg>Ctg	p.V821L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	821					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGTCTTTTCACCTGTCTCAAT	0.373																																																	0													124	127	126					9																	6013147		2203	4299	6502	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2461G>C	9.37:g.6013147C>G	ENSP00000259569:p.Val821Leu		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V821L	ENST00000259569.5	37	c.2461	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137839	0.21123	.	.	ENSG00000137040	ENST00000259569	T	0.09350	2.99	4.04	4.04	0.47022	Armadillo-like helical (1);Armadillo-type fold (1);	0.148901	0.46758	U	0.000266	T	0.05547	0.0146	N	0.03115	-0.41	0.41524	D	0.988416	B;B	0.11235	0.001;0.004	B;B	0.10450	0.003;0.005	T	0.40327	-0.9569	10	0.33141	T	0.24	-12.9091	14.5232	0.67867	0.0:1.0:0.0:0.0	.	409;821	B4DTX6;O60518	.;RNBP6_HUMAN	L	821	ENSP00000259569:V821L	ENSP00000259569:V821L	V	-	1	0	RANBP6	6003147	0.931000	0.31567	1.000000	0.80357	0.985000	0.73830	4.102000	0.57776	2.542000	0.85734	0.650000	0.86243	GTG	RANBP6	-	superfamily_ARM-type_fold		0.373	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	C	NM_012416		6013147	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6013147	C	G	6013147	3	3	151	1	0	0	0	0	1	0	0	0	13061	507	18	4	860	4	RANBP6	9	6013147	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	90028	6013147	135200284	451	25084										
KDM4C	23081	genome.wustl.edu	37	chr9	7011800	7011800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagtcccctaacttcgcagCtgagcaagagtataatgcaa	9	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:7011800C>T	ENST00000381309.3	+	13	2454	c.1889C>T	c.(1888-1890)gCt>gTt	p.A630V	KDM4C_ENST00000428870.2_Missense_Mutation_p.A317V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A449V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A652V|KDM4C_ENST00000381306.3_Missense_Mutation_p.A630V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A630V|KDM4C_ENST00000442236.2_Missense_Mutation_p.A375V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	630					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AACTTCGCAGCTGAGCAAGAG	0.512																																																	0													95	86	89					9																	7011800		2203	4300	6503	SO:0001583	missense	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1889C>T	9.37:g.7011800C>T	ENSP00000370710:p.Ala630Val		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A630V	ENST00000381309.3	37	c.1889	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164061	0.57476	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.76	3.91	0.45181	.	0.109669	0.64402	D	0.000009	T	0.71333	0.3327	M	0.84082	2.675	0.51012	D	0.999903	B;P;D;D;D	0.89917	0.349;0.48;1.0;1.0;1.0	B;B;D;D;D	0.81914	0.086;0.115;0.995;0.981;0.988	T	0.73461	-0.3975	10	0.46703	T	0.11	-13.2061	11.1613	0.48518	0.0:0.8019:0.1295:0.0686	.	375;630;652;630;630	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	V	652;630;630;630;375;449;317	ENSP00000442382:A652V;ENSP00000445427:A630V;ENSP00000370710:A630V;ENSP00000370707:A630V;ENSP00000409353:A375V;ENSP00000440656:A449V;ENSP00000405739:A317V	ENSP00000370707:A630V	A	+	2	0	KDM4C	7001800	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	5.656000	0.67988	1.420000	0.47138	0.655000	0.94253	GCT	KDM4C	-	NULL		0.512	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		7011800	1	no_errors	ENST00000381309	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7011800	C	T	7011800	3	4	151	1	0	0	0	0	1	0	0	0	8150	797	28	4	2005	4	KDM4C	9	7011800	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	998653	7011800	134201631	452	25085										
MPDZ	8777	genome.wustl.edu	37	chr9	13223683	13223683	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctccagatggaggtttgagGagctcaaaaacttctacatg	10	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:13223683G>A	ENST00000319217.7	-	5	667	c.420C>T	c.(418-420)ctC>ctT	p.L140L	MPDZ_ENST00000381015.4_Silent_p.L140L|MPDZ_ENST00000536827.1_Silent_p.L140L|MPDZ_ENST00000447879.1_Silent_p.L140L|MPDZ_ENST00000541718.1_Silent_p.L140L|MPDZ_ENST00000546205.1_Silent_p.L140L|MPDZ_ENST00000381022.2_Silent_p.L140L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	140	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAGGTTTGAGGAGCTCAAAAA	0.458																																																	0													65	66	65					9																	13223683		1870	4098	5968	SO:0001819	synonymous_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.420C>T	9.37:g.13223683G>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.L140	ENST00000319217.7	37	c.420		9																																																																																			MPDZ	-	superfamily_PDZ,pfscan_PDZ		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13223683	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13223683	G	A	13223683	2	1	151	1	0	0	0	0	0	0	0	1	9745	1161	41	1		1	MPDZ	9	13223683	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6211883	13223683	127989748	453	25086										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18777070	18777070	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcaggcgtctacacctgctCagcgggcccggcccgggagc	15	16	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:18777070C>G	ENST00000380548.4	+	19	3182	c.2843C>G	c.(2842-2844)tCa>tGa	p.S948*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	948	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TACACCTGCTCAGCGGGCCCG	0.642																																																	0													40	47	45					9																	18777070		1954	4134	6088	SO:0001587	stop_gained	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2843C>G	9.37:g.18777070C>G	ENSP00000369921:p.Ser948*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.S948*	ENST00000380548.4	37	c.2843	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.523985	0.98848	.	.	ENSG00000178031	ENST00000380548	.	.	.	5.53	3.65	0.41850	.	0.548748	0.18250	N	0.146982	.	.	.	.	.	.	0.26312	N	0.977809	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.5699	0.22533	0.0:0.6605:0.1408:0.1988	.	.	.	.	X	948	.	ENSP00000369921:S948X	S	+	2	0	ADAMTSL1	18767070	0.824000	0.29247	0.170000	0.22879	0.229000	0.25112	1.657000	0.37366	1.298000	0.44778	0.462000	0.41574	TCA	ADAMTSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.642	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18777070	1	no_errors	ENST00000380548	ensembl	human	novel	70_37	nonsense	SNP	0.277	G	G	18777070	C	G	18777070	4	3	151	1	0	0	0	0	0	1	0	0	274	838	29	1	2921	1	ADAMTSL1	9	18777070	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5553387	18777070	122436361	454	25087										
APTX	54840	genome.wustl.edu	37	chr9	32973534	32973534	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctgagatgttctttcagctGaggaatggaaggcagcagct	13	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:32973534G>C	ENST00000379819.1	-	8	1032	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	APTX_ENST00000468275.1_Missense_Mutation_p.Q331E|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000476858.1_Missense_Mutation_p.Q291E|APTX_ENST00000379813.3_Missense_Mutation_p.Q331E|APTX_ENST00000379817.2_Missense_Mutation_p.Q331E|APTX_ENST00000397172.3_Missense_Mutation_p.Q273E|APTX_ENST00000463596.1_Missense_Mutation_p.Q331E|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379825.2_3'UTR			Q7Z2E3	APTX_HUMAN	aprataxin	345					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TCTTTCAGCTGAGGAATGGAA	0.547								Editing and processing nucleases																																									0													83	76	78					9																	32973534		2203	4300	6503	SO:0001583	missense	54840			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.1033C>G	9.37:g.32973534G>C	ENSP00000369147:p.Gln345Glu		A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT	p.Q345E	ENST00000379819.1	37	c.1033		9	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190548	0.21954	.	.	ENSG00000137074	ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813	D;D;D;D;D;D;D	0.91237	-1.78;-1.82;-1.83;-1.82;-1.82;-2.81;-1.82	5.43	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.177021	0.49916	D	0.000123	D	0.86727	0.6002	L	0.42581	1.335	0.80722	D	1	B;B;B	0.24882	0.095;0.113;0.069	B;B;B	0.30251	0.049;0.113;0.053	T	0.82378	-0.0487	10	0.25751	T	0.34	-14.8109	13.3758	0.60739	0.0:0.1591:0.8409:0.0	.	273;277;345	Q7Z2E3-3;Q7Z2E3-5;Q7Z2E3	.;.;APTX_HUMAN	E	273;331;345;331;331;291;326;331	ENSP00000380357:Q273E;ENSP00000369145:Q331E;ENSP00000369147:Q345E;ENSP00000420263:Q331E;ENSP00000419846:Q331E;ENSP00000419042:Q291E;ENSP00000369141:Q331E	ENSP00000339407:Q326E	Q	-	1	0	APTX	32963534	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.317000	0.51968	2.546000	0.85860	0.655000	0.94253	CAG	APTX	-	NULL		0.547	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	APTX	HGNC	protein_coding	OTTHUMT00000052028.2	G	NM_017692		32973534	-1	no_errors	ENST00000379819	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32973534	G	C	32973534	3	2	151	1	0	0	0	0	1	0	0	0	820	1299	45	1	41	1	APTX	9	32973534	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	14196464	32973534	108239897	455	25088										
SPAG8	4882	genome.wustl.edu	37	chr9	35811266	35811266	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctttaatgtctgggggtttCcatagtcctcgggcacccgg	12	12	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:35811266C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Nonsense_Mutation_p.W257*|SPAG8_ENST00000340291.2_Nonsense_Mutation_p.W259*|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Nonsense_Mutation_p.W259*|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGGGGTTTCCATAGTCCTC	0.507																																																	0													106	126	119					9																	35811266		2203	4300	6503	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811266C>T			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	prints_Antifreeze_1	p.W259*	ENST00000342694.2	37	c.777	CCDS6590.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.909310|2.909310	0.52439|0.52439	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|.	.|.	.|.	5.41|5.41	3.43|3.43	0.39272|0.39272	.|.	.|1.188910	.|0.05994	.|N	.|0.646543	T|.	0.19208|.	0.0461|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18023|.	-1.0350|.	3|.	.|0.02654	.|T	.|1	1.2736|1.2736	8.471|8.471	0.32986|0.32986	0.1799:0.6589:0.1613:0.0|0.1799:0.6589:0.1613:0.0	.|.	.|.	.|.	.|.	E|X	257|259;257;259	.|.	.|ENSP00000340982:W259X	G|W	-|-	2|3	0|0	SPAG8|SPAG8	35801266|35801266	0.006000|0.006000	0.16342|0.16342	0.127000|0.127000	0.21898|0.21898	0.182000|0.182000	0.23217|0.23217	0.743000|0.743000	0.26231|0.26231	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	GGA|TGG	SPAG8	-	NULL		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	C			35811266	-1	no_errors	ENST00000340291	ensembl	human	known	70_37	nonsense	SNP	0.007	T	T	35811266	C	T	35811266	1	4	151	0	1	0	0	0	0	0	0	0	15014	856	30	1		1	SPAG8	9	35811266	IGR	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2837732	35811266	105402165	456	25089										
PIP5K1B	8395	genome.wustl.edu	37	chr9	71532470	71532470	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttttctcattcaggtgctaGaaagcttcaagatcatggat	8	7	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:71532470G>C	ENST00000265382.3	+	9	1083	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E260Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	260	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TCAGGTGCTAGAAAGCTTCAA	0.443																																																	0													250	269	263					9																	71532470		2203	4300	6503	SO:0001583	missense	8395			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.778G>C	9.37:g.71532470G>C	ENSP00000265382:p.Glu260Gln		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E300Q	ENST00000265382.3	37	c.898	CCDS6624.1	9	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105336	0.56291	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.37235	1.21;1.21	5.96	5.96	0.96718	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	N	0.21282	0.65	0.58432	D	0.999999	B	0.33477	0.413	B	0.32393	0.145	T	0.03017	-1.1082	10	0.25106	T	0.35	-3.5952	20.422	0.99049	0.0:0.0:1.0:0.0	.	260	O14986	PI51B_HUMAN	Q	260;260;260;207	ENSP00000438082:E260Q;ENSP00000265382:E260Q	ENSP00000265382:E260Q	E	+	1	0	PIP5K1B	70722290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.822000	0.86651	2.832000	0.97577	0.655000	0.94253	GAA	PIP5K1B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.443	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP5K1B	HGNC	protein_coding	OTTHUMT00000052561.2	G	NM_003558		71532470	1	no_errors	ENST00000478500	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71532470	G	C	71532470	3	2	151	1	0	0	0	0	1	0	0	0	11964	943	33	1	800	1	PIP5K1B	9	71532470	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	35721204	71532470	69680961	457	25090										
MAMDC2	256691	genome.wustl.edu	37	chr9	72741174	72741174	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccccatggctggctgcctgtCattttattaccagatccagc	8	14	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:72741174C>G	ENST00000377182.4	+	6	1360	c.743C>G	c.(742-744)tCa>tGa	p.S248*	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	248	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGCTGCCTGTCATTTTATTAC	0.532																																																	0													76	68	71					9																	72741174		2203	4300	6503	SO:0001587	stop_gained	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.743C>G	9.37:g.72741174C>G	ENSP00000366387:p.Ser248*		Q5VW47|Q8WX43|Q96BM4	Nonsense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.S248*	ENST00000377182.4	37	c.743	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	C	43	10.282871	0.99375	.	.	ENSG00000165072	ENST00000377182	.	.	.	6.03	5.13	0.70059	.	0.214002	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.4859	15.5888	0.76510	0.0:0.9342:0.0:0.0658	.	.	.	.	X	248	.	ENSP00000366387:S248X	S	+	2	0	MAMDC2	71930994	0.934000	0.31675	0.885000	0.34714	0.948000	0.59901	1.836000	0.39191	1.568000	0.49683	0.555000	0.69702	TCA	MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.532	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72741174	1	no_errors	ENST00000377182	ensembl	human	known	70_37	nonsense	SNP	0.993	G	G	72741174	C	G	72741174	4	3	151	1	0	0	0	0	0	1	0	0	9226	838	29	1	765	1	MAMDC2	9	72741174	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1208704	72741174	68472257	458	25091										
AGTPBP1	23287	genome.wustl.edu	37	chr9	88162079	88162079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaagtacttcttcttgagcaGaaggttcataatctcctaca	6	9	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:88162079G>A	ENST00000357081.3	-	26	3770	c.3626C>T	c.(3625-3627)tCt>tTt	p.S1209F	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S1221F|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S1169F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1209					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCTTGAGCAGAAGGTTCATA	0.373																																																	0													150	139	143					9																	88162079		2203	4300	6503	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3626C>T	9.37:g.88162079G>A	ENSP00000349592:p.Ser1209Phe		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.S1221F	ENST00000357081.3	37	c.3662		9	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563998	0.45694	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.21191	2.07;2.07;2.02	6.03	4.1	0.47936	.	0.231603	0.45361	D	0.000371	T	0.13756	0.0333	N	0.14661	0.345	0.80722	D	1	B;P;P	0.48503	0.004;0.855;0.911	B;B;P	0.44811	0.007;0.36;0.461	T	0.03034	-1.1080	10	0.56958	D	0.05	-13.771	7.8775	0.29603	0.0652:0.1179:0.6949:0.122	.	1221;1209;1169	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	F	1209;1169;1221	ENSP00000349592:S1209F;ENSP00000365251:S1169F;ENSP00000365277:S1221F	ENSP00000349592:S1209F	S	-	2	0	AGTPBP1	87351899	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.683000	0.37638	1.563000	0.49615	0.655000	0.94253	TCT	AGTPBP1	-	NULL		0.373	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	G	NM_015239		88162079	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88162079	G	A	88162079	3	1	151	1	0	0	0	0	1	0	0	0	400	942	33	1	58	1	AGTPBP1	9	88162079	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	15420905	88162079	53051352	459	25092										
ROR2	4920	genome.wustl.edu	37	chr9	94486597	94486597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggggaactcgttccagcactCgatcatgagggcatacaccc	11	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:94486597C>T	ENST00000375708.3	-	9	2377	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	ROR2_ENST00000375715.1_Missense_Mutation_p.E587K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCCAGCACTCGATCATGAGG	0.637																																																	0													49	46	47					9																	94486597		2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2179G>A	9.37:g.94486597C>T	ENSP00000364860:p.Glu727Lys		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E727K	ENST00000375708.3	37	c.2179	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525703	0.64860	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.82344	-1.6;-1.6	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000685	D	0.86100	0.5852	N	0.25485	0.75	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.85130	0.886;0.997	D	0.87671	0.2541	10	0.56958	D	0.05	.	17.7513	0.88435	0.0:1.0:0.0:0.0	.	727;587	Q01974;B1APY4	ROR2_HUMAN;.	K	587;727	ENSP00000364867:E587K;ENSP00000364860:E727K	ENSP00000364860:E727K	E	-	1	0	ROR2	93526418	1.000000	0.71417	0.991000	0.47740	0.575000	0.36095	5.762000	0.68809	2.415000	0.81967	0.561000	0.74099	GAG	ROR2	-	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,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94486597	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.998	T	T	94486597	C	T	94486597	3	4	151	1	0	0	0	0	1	0	0	0	13557	893	31	1	656	1	ROR2	9	94486597	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6324518	94486597	46726834	460	25093										
NOL8	55035	genome.wustl.edu	37	chr9	95073484	95073484	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtcgatgtctcctctgtttCacattcactgtcagaaccga	7	12	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95073484C>G	ENST00000545558.1	-	8	2908	c.2416G>C	c.(2416-2418)Gaa>Caa	p.E806Q	NOL8_ENST00000358855.4_Missense_Mutation_p.E738Q|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000442668.2_Missense_Mutation_p.E806Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E738Q					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCCTCTGTTTCACATTCACTG	0.463																																																	0													114	103	107					9																	95073484		1995	4173	6168	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000545558.1:c.2416G>C	9.37:g.95073484C>G	ENSP00000441140:p.Glu806Gln			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E806Q	ENST00000545558.1	37	c.2416	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355456	0.82243	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.51574	1.98;1.98;1.98;1.98;0.7	5.15	5.15	0.70609	.	0.152989	0.56097	D	0.000025	T	0.67487	0.2898	M	0.77103	2.36	0.39518	D	0.96846	D;D	0.69078	0.997;0.994	P;P	0.61658	0.892;0.844	T	0.73886	-0.3841	10	0.72032	D	0.01	-20.2998	16.8732	0.86044	0.0:1.0:0.0:0.0	.	738;806	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	Q	806;738;806;738;806	ENSP00000401177:E806Q;ENSP00000351723:E738Q;ENSP00000441140:E806Q;ENSP00000440709:E738Q;ENSP00000414112:E806Q	ENSP00000351723:E738Q	E	-	1	0	NOL8	94113305	0.983000	0.35010	1.000000	0.80357	0.857000	0.48899	3.312000	0.51927	2.393000	0.81446	0.644000	0.83932	GAA	NOL8	-	NULL		0.463	NOL8-015	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000402684.1	C	NM_017948		95073484	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.999	G	G	95073484	C	G	95073484	3	3	151	1	0	0	0	0	1	0	0	0	10551	835	29	1	1127	1	NOL8	9	95073484	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	586887	95073484	46139947	461	25094										
NOL8	55035	genome.wustl.edu	37	chr9	95077640	95077640	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttttgtagtttaatacagtGatcagaaagctcacagtttt							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95077640G>A	ENST00000535387.1	-	6	1266	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	NOL8_ENST00000545558.1_Missense_Mutation_p.H423Y|NOL8_ENST00000358855.4_Missense_Mutation_p.H355Y|NOL8_ENST00000442668.2_Missense_Mutation_p.H423Y|NOL8_ENST00000542053.1_Missense_Mutation_p.H355Y					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTAATACAGTGATCAGAAAGC	0.343																																																	0													28	25	26					9																	95077640		1820	4064	5884	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1267C>T	9.37:g.95077640G>A	ENSP00000441300:p.His423Tyr			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H423Y	ENST00000535387.1	37	c.1267	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	0	-2.651872	0.00109	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.17854	2.51;2.52;2.51;2.73;2.52;2.25	5.69	1.74	0.24563	.	1.524610	0.03303	N	0.189247	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29671	-1.0004	10	0.02654	T	1	0.1079	12.9916	0.58622	0.0661:0.5248:0.4091:0.0	.	423	Q76FK4	NOL8_HUMAN	Y	423;425;355;423;423;355;423	ENSP00000401177:H423Y;ENSP00000351723:H355Y;ENSP00000441140:H423Y;ENSP00000441300:H423Y;ENSP00000440709:H355Y;ENSP00000414112:H423Y	ENSP00000351723:H355Y	H	-	1	0	NOL8	94117461	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.106000	0.10890	0.049000	0.15920	-0.137000	0.14449	CAC	NOL8	-	NULL		0.343	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95077640	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.000	A	A	95077640	G	A	95077640	3	1	151	1	0	0	0	0	1	0	0	0	10551	1290	45	1	2280	1	NOL8	9	95077640	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4156	95077640	46135791	462	25095	145	2								
NOL8	55035	genome.wustl.edu	37	chr9	95077645	95077645	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtagtttaatacagtgatcaGaaagctcacagttttctcta							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95077645G>A	ENST00000535387.1	-	6	1261	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	NOL8_ENST00000545558.1_Missense_Mutation_p.S421F|NOL8_ENST00000358855.4_Missense_Mutation_p.S353F|NOL8_ENST00000442668.2_Missense_Mutation_p.S421F|NOL8_ENST00000542053.1_Missense_Mutation_p.S353F					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACAGTGATCAGAAAGCTCACA	0.328																																																	0													27	24	25					9																	95077645		1814	4061	5875	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1262C>T	9.37:g.95077645G>A	ENSP00000441300:p.Ser421Phe			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S421F	ENST00000535387.1	37	c.1262	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877254	0.17395	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.20069	2.36;2.37;2.36;2.58;2.37;2.1	5.69	3.85	0.44370	.	0.848458	0.10890	N	0.622850	T	0.11537	0.0281	N	0.08118	0	0.20926	N	0.999826	B	0.24533	0.105	B	0.22880	0.042	T	0.26155	-1.0111	10	0.87932	D	0	-8.5155	7.1067	0.25368	0.1398:0.0:0.72:0.1401	.	421	Q76FK4	NOL8_HUMAN	F	421;423;353;421;421;353;421	ENSP00000401177:S421F;ENSP00000351723:S353F;ENSP00000441140:S421F;ENSP00000441300:S421F;ENSP00000440709:S353F;ENSP00000414112:S421F	ENSP00000351723:S353F	S	-	2	0	NOL8	94117466	0.023000	0.18921	0.106000	0.21319	0.161000	0.22273	1.075000	0.30716	0.740000	0.32651	0.655000	0.94253	TCT	NOL8	-	NULL		0.328	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95077645	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.439	A	A	95077645	G	A	95077645	3	1	151	1	0	0	0	0	1	0	0	0	10551	942	33	1	2285	1	NOL8	9	95077645	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5	95077645	46135786	463	25096	145	2								
ASPN	54829	genome.wustl.edu	37	chr9	95236914	95236914	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttatattcttacctaaatctGagcaatgtacaactcgtgaa	5	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95236914G>A	ENST00000375544.3	-	2	509	c.266C>T	c.(265-267)tCa>tTa	p.S89L	ASPN_ENST00000450139.2_Missense_Mutation_p.S61L|ASPN_ENST00000375543.1_Missense_Mutation_p.S89L|ASPN_ENST00000395538.3_Missense_Mutation_p.S89L|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	89	Cys-rich.|LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S89*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACCTAAATCTGAGCAATGTAC	0.323																																																	1	Substitution - Nonsense(1)	breast(1)											98	90	93					9																	95236914		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.266C>T	9.37:g.95236914G>A	ENSP00000364694:p.Ser89Leu		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.S89L	ENST00000375544.3	37	c.266		9	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560534	0.86335	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.3	4.39	0.52855	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.90650	3.135	0.40634	D	0.981885	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	D	0.99905	1.1175	10	0.72032	D	0.01	.	15.65	0.77084	0.0:0.0:0.8616:0.1384	.	89;89	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	L	89;89;89;61	ENSP00000364694:S89L;ENSP00000364693:S89L;ENSP00000378909:S89L;ENSP00000389902:S61L	ENSP00000364693:S89L	S	-	2	0	ASPN	94276735	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.339000	0.90041	1.377000	0.46286	0.650000	0.86243	TCA	ASPN	-	pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan		0.323	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	G	NM_017680		95236914	-1	no_errors	ENST00000375544	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95236914	G	A	95236914	3	1	151	1	0	0	0	0	1	0	0	0	1058	1294	45	1	904	1	ASPN	9	95236914	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	159269	95236914	45976517	464	25097										
C9orf3	84909	genome.wustl.edu	37	chr9	97767884	97767884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggaagcgcagggagaaggaaGaggtgtttgaaaaggtaggg	20	2	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:97767884G>A	ENST00000375315.2	+	12	2101	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	C9orf3_ENST00000433691.2_Missense_Mutation_p.E42K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E63K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E602K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	701					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E602Q(1)|p.E701Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAGAAGGAAGAGGTGTTTGA	0.522																																																	2	Substitution - Missense(2)	urinary_tract(2)											111	116	114					9																	97767884		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2101G>A	9.37:g.97767884G>A	ENSP00000364464:p.Glu701Lys		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.E701K	ENST00000375315.2	37	c.2101	CCDS55328.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.203|2.203	-0.382590|-0.382590	0.04966|0.04966	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000451893;ENST00000445181	T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	1.077170|.	0.07181|.	N|.	0.854116|.	T|T	0.44095|0.44095	0.1277|0.1277	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;P;B;B;B;B|.	0.47484|.	0.049;0.896;0.275;0.001;0.13;0.033|.	B;P;B;B;B;B|.	0.46510|.	0.084;0.519;0.128;0.005;0.055;0.027|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.06891|.	T|.	0.86|.	-0.0059|-0.0059	9.7373|9.7373	0.40395|0.40395	0.1007:0.0:0.8993:0.0|0.1007:0.0:0.8993:0.0	.|.	42;63;120;701;602;602|.	B4DU39;B4DQU3;E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;.;AMPO_HUMAN;.;.|.	K|K	602;701;425;483;120;63;42;65|100;65	ENSP00000297979:E602K;ENSP00000364464:E701K;ENSP00000402171:E425K;ENSP00000401854:E483K;ENSP00000411815:E63K;ENSP00000399365:E42K|.	ENSP00000297979:E602K|.	E|R	+|+	1|2	0|0	C9orf3|C9orf3	96807705|96807705	0.951000|0.951000	0.32395|0.32395	0.038000|0.038000	0.18304|0.18304	0.223000|0.223000	0.24884|0.24884	4.553000|4.553000	0.60753|0.60753	2.286000|2.286000	0.76751|0.76751	0.561000|0.561000	0.74099|0.74099	GAG|AGA	C9orf3	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold		0.522	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97767884	1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	0.051	A	A	97767884	G	A	97767884	3	1	151	1	0	0	0	0	1	0	0	0	2482	943	33	1	1842	1	C9orf3	9	97767884	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2530970	97767884	43445547	465	25098										
ZNF782	158431	genome.wustl.edu	37	chr9	99580528	99580528	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaatgtttttccacactcctCacattgatagggtttctccc	6	12	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:99580528C>G	ENST00000481138.1	-	6	2438	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF782_ENST00000535338.1_Missense_Mutation_p.E461Q|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CCACACTCCTCACATTGATAG	0.418																																																	0													136	133	134					9																	99580528		2203	4300	6503	SO:0001583	missense	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1777G>C	9.37:g.99580528C>G	ENSP00000419397:p.Glu593Gln		B2RNR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E593Q	ENST00000481138.1	37	c.1777	CCDS35075.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.54|10.54	1.379744|1.379744	0.24944|0.24944	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.07688|.	3.17;3.17|.	3.06|3.06	1.19|1.19	0.21007|0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.33294|.	0.0858|.	L|L	0.35793|0.35793	1.09|1.09	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.13594|.	0.008|.	B|.	0.14578|.	0.011|.	T|.	0.24905|.	-1.0147|.	9|.	0.49607|.	T|.	0.09|.	.|.	7.2077|7.2077	0.25917|0.25917	0.0:0.7637:0.0:0.2363|0.0:0.7637:0.0:0.2363	.|.	593|.	Q6ZMW2|.	ZN782_HUMAN|.	Q|S	593;461|581	ENSP00000419397:E593Q;ENSP00000440624:E461Q|.	ENSP00000419397:E593Q|.	E|X	-|-	1|2	0|2	ZNF782|ZNF782	98620349|98620349	0.000000|0.000000	0.05858|0.05858	0.919000|0.919000	0.36401|0.36401	0.930000|0.930000	0.56654|0.56654	-2.707000|-2.707000	0.00820|0.00820	0.327000|0.327000	0.23409|0.23409	0.655000|0.655000	0.94253|0.94253	GAG|TGA	ZNF782	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	C	NM_001001662		99580528	-1	no_errors	ENST00000481138	ensembl	human	known	70_37	missense	SNP	0.374	G	G	99580528	C	G	99580528	3	3	151	1	0	0	0	0	1	0	0	0	18185	835	29	1	326	1	ZNF782	9	99580528	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1812644	99580528	41632903	466	25099										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100076947	100076947	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccgggcggttactgctccgGaagcaggagattaaggagct	16	9	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:100076947G>A	ENST00000357054.1	+	21	2120	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.R256R|CCDC180_ENST00000529487.1_Silent_p.R256R|CCDC180_ENST00000395220.1_Silent_p.R395R|CCDC180_ENST00000411667.2_Silent_p.R253R			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	395						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TACTGCTCCGGAAGCAGGAGA	0.602																																																	0													44	48	47					9																	100076947		2203	4300	6503	SO:0001819	synonymous_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1185G>A	9.37:g.100076947G>A			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.R256	ENST00000357054.1	37	c.768		9																																																																																			C9orf174	-	NULL		0.602	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100076947	1	no_errors	ENST00000375202	ensembl	human	known	70_37	silent	SNP	0.468	A	A	100076947	G	A	100076947	2	1	151	1	0	0	0	0	0	0	0	1	8260	1161	41	1		1	KIAA1529	9	100076947	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	496419	100076947	41136484	467	25100										
ANP32B	10541	genome.wustl.edu	37	chr9	100777654	100777654	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttactgtacagaggaggaaGaaggtgggaaaggtgaaaag	17	2	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:100777654G>C	ENST00000339399.4	+	7	892	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	233	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				agaggaggaagaaggtgggaa	0.403																																																	0													143	131	135					9																	100777654		1327	2309	3636	SO:0001583	missense	10541			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"ANP32 acidic nuclear phosphoproteins"	16677	protein-coding gene	gene with protein product	"acidic protein rich in leucines"					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.697G>C	9.37:g.100777654G>C	ENSP00000345848:p.Glu233Gln		B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.E233Q	ENST00000339399.4	37	c.697	CCDS6732.1	9	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560130	0.27827	.	.	ENSG00000136938	ENST00000447173;ENST00000339399	T	0.36520	1.25	5.17	5.17	0.71159	.	0.310015	0.38720	N	0.001588	T	0.26629	0.0651	N	0.24115	0.695	0.47065	D	0.999308	P	0.43826	0.818	B	0.37833	0.259	T	0.03335	-1.1047	10	0.31617	T	0.26	-11.9245	17.821	0.88650	0.0:0.0:1.0:0.0	.	233	Q92688	AN32B_HUMAN	Q	152;233	ENSP00000345848:E233Q	ENSP00000345848:E233Q	E	+	1	0	ANP32B	99817475	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	3.956000	0.56722	2.595000	0.87683	0.650000	0.86243	GAA	ANP32B	-	NULL		0.403	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4	G	NM_006401		100777654	1	no_errors	ENST00000339399	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100777654	G	C	100777654	3	2	151	1	0	0	0	0	1	0	0	0	706	943	33	1	723	1	ANP32B	9	100777654	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	700707	100777654	40435777	468	25101										
GABBR2	9568	genome.wustl.edu	37	chr9	101061587	101061587	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttaatgtaggtggtcttttCtggtgtgtcctgcagctgca	12	7	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:101061587C>G	ENST00000259455.2	-	17	2920	c.2461G>C	c.(2461-2463)Gaa>Caa	p.E821Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	821					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTGGTCTTTTCTGGTGTGTCC	0.527																																																	0													447	371	397					9																	101061587		2203	4300	6503	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2461G>C	9.37:g.101061587C>G	ENSP00000259455:p.Glu821Gln		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3	p.E821Q	ENST00000259455.2	37	c.2461	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.260159	0.95368	.	.	ENSG00000136928	ENST00000259455	T	0.79141	-1.24	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.82721	-0.0317	10	0.54805	T	0.06	.	17.4853	0.87685	0.0:1.0:0.0:0.0	.	821	O75899	GABR2_HUMAN	Q	821	ENSP00000259455:E821Q	ENSP00000259455:E821Q	E	-	1	0	GABBR2	100101408	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.794000	0.85869	2.723000	0.93209	0.655000	0.94253	GAA	GABBR2	-	NULL		0.527	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	C			101061587	-1	no_errors	ENST00000259455	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101061587	C	G	101061587	3	3	151	1	0	0	0	0	1	0	0	0	6174	922	32	1	376	1	GABBR2	9	101061587	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	283933	101061587	40151844	469	25102										
INVS	27130	genome.wustl.edu	37	chr9	103054935	103054935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggcgcactcaagagctcaGaggaggaaggtgctctccgg	15	10	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:103054935G>A	ENST00000262457.2	+	14	2581	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	INVS_ENST00000541287.1_Missense_Mutation_p.R703K|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	799					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGAGCTCAGAGGAGGAAGG	0.632																																																	0													57	58	57					9																	103054935		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2396G>A	9.37:g.103054935G>A	ENSP00000262457:p.Arg799Lys		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R799K	ENST00000262457.2	37	c.2396	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274565	0.23307	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.38560	1.13;1.13	5.65	-0.91	0.10511	.	0.447134	0.26289	N	0.025227	T	0.19248	0.0462	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32824	-0.9892	10	0.02654	T	1	.	10.4738	0.44652	0.3287:0.0:0.6713:0.0	.	703;799	F5GZH2;Q9Y283	.;INVS_HUMAN	K	799;703	ENSP00000262457:R799K;ENSP00000444454:R703K	ENSP00000262457:R799K	R	+	2	0	INVS	102094756	0.995000	0.38212	0.867000	0.34043	0.994000	0.84299	0.408000	0.21065	-0.309000	0.08779	-0.269000	0.10298	AGA	INVS	-	NULL		0.632	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	G	NM_014425		103054935	1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	0.745	A	A	103054935	G	A	103054935	3	1	151	1	0	0	0	0	1	0	0	0	7807	942	33	1	2446	1	INVS	9	103054935	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1993348	103054935	38158496	470	25103										
OR13C2	392376	genome.wustl.edu	37	chr9	107366964	107366964	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttgcactcacttgctaaaGaaccttctgttcagtaggtg	8	9	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:107366964G>A	ENST00000542196.1	-	1	987	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACTTGCTAAAGAACCTTCTGT	0.343																																																	0													168	168	168					9																	107366964		2201	4300	6501	SO:0001819	synonymous_variant	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.945C>T	9.37:g.107366964G>A			B9EGV8|Q6IF54	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F315	ENST00000542196.1	37	c.945	CCDS35092.1	9																																																																																			OR13C2	-	NULL		0.343	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107366964	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	silent	SNP	0.000	A	A	107366964	G	A	107366964	2	1	151	1	0	0	0	0	0	0	0	1	10958	933	33	1		1	OR13C2	9	107366964	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4312029	107366964	33846467	471	25104										
OR13C2	392376	genome.wustl.edu	37	chr9	107367625	107367625	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acatctgcactgcacagccaGaaagggaaatggtctttctt	9	10	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:107367625G>A	ENST00000542196.1	-	1	326	c.284C>T	c.(283-285)tCt>tTt	p.S95F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCACAGCCAGAAAGGGAAAT	0.522																																																	0													102	98	99					9																	107367625		2203	4300	6503	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.284C>T	9.37:g.107367625G>A	ENSP00000438815:p.Ser95Phe		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S95F	ENST00000542196.1	37	c.284	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	2.015	-0.426256	0.04701	.	.	ENSG00000257019	ENST00000542196	T	0.00382	7.61	3.53	0.507	0.16967	GPCR, rhodopsin-like superfamily (1);	0.765819	0.10678	U	0.646715	T	0.00328	0.0010	L	0.55481	1.735	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.30149	-0.9988	10	0.44086	T	0.13	.	9.7021	0.40194	0.2933:0.0:0.7067:0.0	.	95	Q8NGS9	O13C2_HUMAN	F	95	ENSP00000438815:S95F	ENSP00000438815:S95F	S	-	2	0	OR13C2	106407446	0.000000	0.05858	0.002000	0.10522	0.506000	0.33950	-0.784000	0.04633	-0.058000	0.13177	-1.598000	0.00824	TCT	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107367625	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	missense	SNP	0.000	A	A	107367625	G	A	107367625	3	1	151	1	0	0	0	0	1	0	0	0	10958	942	33	1	675	1	OR13C2	9	107367625	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	661	107367625	33845806	472	25105										
ZNF618	114991	genome.wustl.edu	37	chr9	116812073	116812073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agatcatcggcaaggtctgtGagctcatcaacgaggtgaag	13	8	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:116812073G>A	ENST00000374126.5	+	15	2590	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.E738K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	831					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAAGGTCTGTGAGCTCATCAA	0.657																																																	0													59	66	64					9																	116812073		2068	4190	6258	SO:0001583	missense	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2491G>A	9.37:g.116812073G>A	ENSP00000363241:p.Glu831Lys		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E831K	ENST00000374126.5	37	c.2491		9	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999033	0.74818	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.23552	1.9;1.9	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.048718	0.85682	D	0.000000	T	0.52597	0.1744	.	.	.	0.80722	D	1	D;D;D	0.65815	0.982;0.988;0.995	D;P;P	0.67548	0.952;0.76;0.879	T	0.50508	-0.8820	9	0.56958	D	0.05	-34.544	19.0349	0.92972	0.0:0.0:1.0:0.0	.	798;831;738	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	K	831;738	ENSP00000363241:E831K;ENSP00000288466:E738K	ENSP00000288466:E738K	E	+	1	0	ZNF618	115851894	1.000000	0.71417	0.972000	0.41901	0.566000	0.35808	9.100000	0.94213	2.815000	0.96918	0.561000	0.74099	GAG	ZNF618	-	superfamily_RNaseH-like_dom		0.657	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	G	XM_054983		116812073	1	no_errors	ENST00000374126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116812073	G	A	116812073	3	1	151	1	0	0	0	0	1	0	0	0	18072	1291	45	1	2266	1	ZNF618	9	116812073	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9444448	116812073	24401358	473	25106										
TTLL11	158135	genome.wustl.edu	37	chr9	124794028	124794028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aacaaagagctggaactcgtCaggcagaatccatgagcgag	12	9	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:124794028C>T	ENST00000373776.3	-	3	1124	c.937G>A	c.(937-939)Gac>Aac	p.D313N	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Missense_Mutation_p.D313N	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	313	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGGAACTCGTCAGGCAGAATC	0.502																																																	0													111	99	103					9																	124794028		2203	4300	6503	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.937G>A	9.37:g.124794028C>T	ENSP00000362881:p.Asp313Asn			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D313N	ENST00000373776.3	37	c.937	CCDS6834.2	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011505	0.75046	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05319	3.46;3.46	5.51	5.51	0.81932	.	0.249192	0.35466	N	0.003191	T	0.05640	0.0148	N	0.16066	0.365	0.46609	D	0.99912	P;P	0.44627	0.839;0.483	B;B	0.42692	0.395;0.27	T	0.56092	-0.8036	10	0.19590	T	0.45	.	16.4955	0.84242	0.0:1.0:0.0:0.0	.	313;313	F8W6M1;Q8NHH1	.;TTL11_HUMAN	N	313	ENSP00000321346:D313N;ENSP00000362881:D313N	ENSP00000321346:D313N	D	-	1	0	TTLL11	123833849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.323000	0.65858	2.759000	0.94783	0.591000	0.81541	GAC	TTLL11	-	pfam_Tub_tyr_ligase		0.502	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1	C	XM_088486		124794028	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124794028	C	T	124794028	3	4	151	1	0	0	0	0	1	0	0	0	16755	826	29	1	1571	1	TTLL11	9	124794028	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7981955	124794028	16419403	474	25107										
CRB2	286204	genome.wustl.edu	37	chr9	126132812	126132812	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cattggtggcagccacacttCaggccacactctggagctac	10	14	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:126132812C>T	ENST00000373631.3	+	7	1481	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	CRB2_ENST00000373629.2_Nonsense_Mutation_p.Q162*|CRB2_ENST00000359999.3_Nonsense_Mutation_p.Q494*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	494	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCCACACTTCAGGCCACACT	0.597																																																	0													70	57	61					9																	126132812		2203	4300	6503	SO:0001587	stop_gained	286204			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1480C>T	9.37:g.126132812C>T	ENSP00000362734:p.Gln494*		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q494*	ENST00000373631.3	37	c.1480	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891873	0.72524	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	.	.	.	4.94	3.82	0.43975	.	0.621973	0.13372	N	0.392815	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.1388	0.65306	0.0:0.9139:0.0:0.0861	.	.	.	.	X	494;494;162	.	ENSP00000353092:Q494X	Q	+	1	0	CRB2	125172633	1.000000	0.71417	0.718000	0.30602	0.521000	0.34408	5.436000	0.66538	2.297000	0.77311	0.448000	0.29417	CAG	CRB2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.597	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	C	NM_173689		126132812	1	no_errors	ENST00000373631	ensembl	human	known	70_37	nonsense	SNP	0.786	T	T	126132812	C	T	126132812	4	4	151	1	0	0	0	0	0	1	0	0	3854	827	29	1	1506	1	CRB2	9	126132812	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1338784	126132812	15080619	475	25108										
FNBP1	23048	genome.wustl.edu	37	chr9	132687391	132687391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcaaattcaatgtctccagGaggctcaaaccctgatttat	6	11	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:132687391G>C	ENST00000446176.2	-	9	1021	c.835C>G	c.(835-837)Cct>Gct	p.P279A	FNBP1_ENST00000420781.1_Missense_Mutation_p.P279A|FNBP1_ENST00000355681.3_Missense_Mutation_p.P279A|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	279	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATGTCTCCAGGAGGCTCAAAC	0.403			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													134	125	128					9																	132687391		1870	4107	5977	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.835C>G	9.37:g.132687391G>C	ENSP00000413625:p.Pro279Ala		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.P279A	ENST00000446176.2	37	c.835	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630608	0.87660	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.58940	0.3;0.3;0.3	5.34	5.34	0.76211	.	0.100949	0.64402	D	0.000002	T	0.76622	0.4013	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.993;0.996;0.998;0.996;1.0	D;D;P;P;D;P;D	0.77004	0.982;0.989;0.828;0.683;0.989;0.888;0.985	T	0.78051	-0.2355	10	0.59425	D	0.04	-20.7765	18.4048	0.90532	0.0:0.0:1.0:0.0	.	279;279;279;279;240;279;279	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	A	279	ENSP00000413625:P279A;ENSP00000407548:P279A;ENSP00000347907:P279A	ENSP00000347907:P279A	P	-	1	0	FNBP1	131727212	1.000000	0.71417	0.834000	0.33040	0.986000	0.74619	9.278000	0.95766	2.655000	0.90218	0.462000	0.41574	CCT	FNBP1	-	NULL		0.403	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	G			132687391	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132687391	G	C	132687391	3	2	151	1	0	0	0	0	1	0	0	0	5983	1174	41	1	1054	1	FNBP1	9	132687391	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6554579	132687391	8526040	476	25109										
GPR107	57720	genome.wustl.edu	37	chr9	132897326	132897326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgacaacatctggggtgatgGaaagtatgaagaaagtcaag	13	4	2	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:132897326G>A	ENST00000372406.1	+	20	2236	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	GPR107_ENST00000372410.3_Missense_Mutation_p.E548K|GPR107_ENST00000347136.6_Missense_Mutation_p.E529K	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	577						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGGGGTGATGGAAAGTATGAA	0.522																																																	0													111	96	101					9																	132897326		2203	4300	6503	SO:0001583	missense	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1729G>A	9.37:g.132897326G>A	ENSP00000361483:p.Glu577Lys		A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain	p.E577K	ENST00000372406.1	37	c.1729	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129974	0.77549	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.26810	1.75;1.71;1.74	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.51770	0.1694	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.996;0.994	T	0.52094	-0.8621	10	0.52906	T	0.07	-28.9538	15.7863	0.78306	0.0:0.0:1.0:0.0	.	548;577;529	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	K	577;529;548	ENSP00000361483:E577K;ENSP00000336988:E529K;ENSP00000361487:E548K	ENSP00000336988:E529K	E	+	1	0	GPR107	131937147	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	5.322000	0.65852	2.493000	0.84123	0.462000	0.41574	GAA	GPR107	-	NULL		0.522	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	G			132897326	1	no_errors	ENST00000372406	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132897326	G	A	132897326	3	1	151	1	0	0	0	0	1	0	0	0	6642	1175	41	1	1807	1	GPR107	9	132897326	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	209935	132897326	8316105	477	25110										
NUP214	8021	genome.wustl.edu	37	chr9	134053762	134053762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggtaaatgtgcaggaattGaagaataaccctgcaacccc	10	9	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:134053762G>C	ENST00000359428.5	+	24	3528	c.3384G>C	c.(3382-3384)ttG>ttC	p.L1128F	NUP214_ENST00000411637.2_Missense_Mutation_p.L1118F|NUP214_ENST00000451030.1_Missense_Mutation_p.L1129F			P35658	NU214_HUMAN	nucleoporin 214kDa	1128	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGCAGGAATTGAAGAATAACC	0.448			T	"DEK, SET, ABL1"	"AML, T-ALL"						OREG0019558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													119	102	108					9																	134053762		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3384G>C	9.37:g.134053762G>C	ENSP00000352400:p.Leu1128Phe	1607	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.L1129F	ENST00000359428.5	37	c.3387	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909420	0.72868	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.52526	0.66;0.66;0.67	5.92	5.92	0.95590	.	0.000000	0.35739	N	0.003017	T	0.45013	0.1321	N	0.08118	0	0.52099	D	0.999948	P;D;D;D	0.76494	0.947;0.999;0.997;0.997	P;D;D;D	0.68192	0.777;0.956;0.956;0.956	T	0.51568	-0.8689	10	0.72032	D	0.01	-16.1954	8.922	0.35617	0.0786:0.1616:0.7598:0.0	.	1117;722;1118;1128	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	F	1128;1118;1129;1117;722;557	ENSP00000352400:L1128F;ENSP00000396576:L1118F;ENSP00000405014:L1129F	ENSP00000352400:L1128F	L	+	3	2	NUP214	133043583	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	1.148000	0.31614	2.813000	0.96785	0.561000	0.74099	TTG	NUP214	-	NULL		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	G	NM_005085		134053762	1	no_errors	ENST00000451030	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134053762	G	C	134053762	3	2	151	1	0	0	0	0	1	0	0	0	10786	1281	45	1	3478	1	NUP214	9	134053762	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1156436	134053762	7159669	478	25111										
POMT1	10585	genome.wustl.edu	37	chr9	134379625	134379625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatgtggggatttttgaagcGccctgtagtggtgacggctg	17	6	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:134379625G>A	ENST00000372228.3	+	2	199	c.20G>A	c.(19-21)cGc>cAc	p.R7H	POMT1_ENST00000404875.2_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.R7H|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000423007.1_Missense_Mutation_p.R7H|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.R7H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	7					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTTTTGAAGCGCCCTGTAGTG	0.592											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													173	146	155					9																	134379625		2203	4300	6503	SO:0001583	missense	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.20G>A	9.37:g.134379625G>A	ENSP00000361302:p.Arg7His	1610	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.R7H	ENST00000372228.3	37	c.20	CCDS6943.1	9	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378120	0.24944	.	.	ENSG00000130714	ENST00000423007;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774	D;D;D;D;T	0.82984	-1.62;-1.62;-1.62;-1.67;-1.11	5.02	1.01	0.19927	.	0.979343	0.08396	N	0.952255	T	0.74543	0.3730	L	0.42245	1.32	0.21878	N	0.999491	B;B;B;B	0.16166	0.016;0.006;0.003;0.006	B;B;B;B	0.09377	0.002;0.002;0.001;0.004	T	0.58983	-0.7539	10	0.45353	T	0.12	-19.7855	5.2219	0.15373	0.4532:0.1446:0.4021:0.0	.	7;7;7;7	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	H	7	ENSP00000404119:R7H;ENSP00000361302:R7H;ENSP00000385797:R7H;ENSP00000346748:R7H;ENSP00000390737:R7H	ENSP00000346748:R7H	R	+	2	0	POMT1	133369446	0.504000	0.26123	0.411000	0.26484	0.401000	0.30781	0.894000	0.28350	-0.089000	0.12484	-0.140000	0.14226	CGC	POMT1	-	NULL		0.592	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	G	NM_007171		134379625	1	no_errors	ENST00000372228	ensembl	human	known	70_37	missense	SNP	0.182	A	A	134379625	G	A	134379625	3	1	151	1	0	0	0	0	1	0	0	0	12269	1087	38	2	22	2	POMT1	9	134379625	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	325863	134379625	6833806	479	25112										
COL5A1	1289	genome.wustl.edu	37	chr9	137690295	137690295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcccaggacaccctggacaGagaggcgagactgtgagtat	13	11	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:137690295G>C	ENST00000371817.3	+	37	3354	c.2940G>C	c.(2938-2940)caG>caC	p.Q980H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	980	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCCTGGACAGAGAGGCGAGA	0.597																																																	0													120	99	106					9																	137690295		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2940G>C	9.37:g.137690295G>C	ENSP00000360882:p.Gln980His		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.Q980H	ENST00000371817.3	37	c.2940	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307277	0.60305	.	.	ENSG00000130635	ENST00000371817	T	0.44881	0.91	4.81	3.91	0.45181	.	0.000000	0.85682	U	0.000000	T	0.50429	0.1615	L	0.29908	0.895	0.58432	D	0.999996	D	0.61697	0.99	D	0.72982	0.979	T	0.52968	-0.8504	10	0.87932	D	0	.	12.3187	0.54973	0.0837:0.0:0.9163:0.0	.	980	P20908	CO5A1_HUMAN	H	980	ENSP00000360882:Q980H	ENSP00000360882:Q980H	Q	+	3	2	COL5A1	136830116	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.609000	0.82925	1.001000	0.39076	0.643000	0.83706	CAG	COL5A1	-	NULL		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137690295	1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137690295	G	C	137690295	3	2	151	1	0	0	0	0	1	0	0	0	3701	933	33	1	3086	1	COL5A1	9	137690295	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3310670	137690295	3523136	480	25113										
PMPCA	23203	genome.wustl.edu	37	chr9	139310756	139310756	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttgcagatgaagaagtcgaGatgacgcggatggcggtcca	15	8	0	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:139310756G>C	ENST00000371717.3	+	6	555	c.546G>C	c.(544-546)gaG>gaC	p.E182D	PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E51D	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	182					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AAGAAGTCGAGATGACGCGGA	0.547																																																	0													107	97	100					9																	139310756		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.546G>C	9.37:g.139310756G>C	ENSP00000360782:p.Glu182Asp		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E182D	ENST00000371717.3	37	c.546	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818090	0.32145	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.35421	2.19;1.31	5.34	2.39	0.29439	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050108	0.85682	N	0.000000	T	0.29914	0.0748	L	0.41027	1.25	0.58432	D	0.999997	B;B;B;B	0.26512	0.151;0.022;0.051;0.051	B;B;B;B	0.33690	0.168;0.06;0.077;0.077	T	0.08785	-1.0705	10	0.44086	T	0.13	.	8.4651	0.32951	0.148:0.1296:0.7224:0.0	.	51;182;182;182	B4DKL3;B4DRK5;Q5SXM9;Q10713	.;.;.;MPPA_HUMAN	D	182;51	ENSP00000360782:E182D;ENSP00000416702:E51D	ENSP00000360782:E182D	E	+	3	2	PMPCA	138430577	1.000000	0.71417	0.756000	0.31282	0.154000	0.21943	1.401000	0.34589	0.706000	0.31912	0.655000	0.94253	GAG	PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd		0.547	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139310756	1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139310756	G	C	139310756	3	2	151	1	0	0	0	0	1	0	0	0	12164	933	33	1	568	1	PMPCA	9	139310756	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1620461	139310756	1902675	481	25114										
INPP5E	56623	genome.wustl.edu	37	chr9	139325521	139325521	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcccgatgtcaaacttgtatGatgggaggaagtggatgtcc	13	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:139325521G>A	ENST00000371712.3	-	8	2000	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAACTTGTATGATGGGAGGAA	0.617																																																	0													227	148	175					9																	139325521		2203	4300	6503	SO:0001583	missense	56623			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1598C>T	9.37:g.139325521G>A	ENSP00000360777:p.Ser533Leu		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S533L	ENST00000371712.3	37	c.1598	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614708	0.66672	.	.	ENSG00000148384	ENST00000371712	D	0.96522	-4.04	5.04	5.04	0.67666	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.069600	0.56097	D	0.000030	D	0.98232	0.9415	M	0.85462	2.755	0.53688	D	0.999975	D;D	0.89917	0.981;1.0	P;D	0.85130	0.813;0.997	D	0.99278	1.0895	10	0.87932	D	0	-20.5946	17.7267	0.88367	0.0:0.0:1.0:0.0	.	499;533	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	L	533	ENSP00000360777:S533L	ENSP00000360777:S533L	S	-	2	0	INPP5E	138445342	1.000000	0.71417	0.057000	0.19452	0.052000	0.14988	9.191000	0.94940	2.503000	0.84419	0.650000	0.86243	TCA	INPP5E	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.617	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1	G	NM_019892		139325521	-1	no_errors	ENST00000371712	ensembl	human	known	70_37	missense	SNP	0.938	A	A	139325521	G	A	139325521	3	1	151	1	0	0	0	0	1	0	0	0	7777	1294	45	1	348	1	INPP5E	9	139325521	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	14765	139325521	1887910	482	25115										
ANAPC2	29882	genome.wustl.edu	37	chr9	140082173	140082173	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggatcatctcttggaaggttCtgggggtgctaaagaacaag	14	6	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:140082173C>T	ENST00000323927.2	-	2	504	c.500G>A	c.(499-501)aGa>aAa	p.R167K	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TTGGAAGGTTCTGGGGGTGCT	0.547																																																	0													77	79	78					9																	140082173		2203	4300	6503	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.500G>A	9.37:g.140082173C>T	ENSP00000314004:p.Arg167Lys		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.R167K	ENST00000323927.2	37	c.500	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	3.051	-0.195297	0.06259	.	.	ENSG00000176248	ENST00000323927	T	0.75821	-0.97	4.43	3.44	0.39384	.	0.290817	0.40554	N	0.001063	T	0.41766	0.1173	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30327	-0.9982	10	0.05525	T	0.97	-18.5822	9.1778	0.37123	0.0:0.8814:0.0:0.1186	.	167;167	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	K	167	ENSP00000314004:R167K	ENSP00000314004:R167K	R	-	2	0	ANAPC2	139201994	0.233000	0.23772	0.934000	0.37439	0.928000	0.56348	1.166000	0.31834	2.295000	0.77249	0.462000	0.41574	AGA	ANAPC2	-	NULL		0.547	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140082173	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	0.225	T	T	140082173	C	T	140082173	3	4	151	1	0	0	0	0	1	0	0	0	603	913	32	1	2016	1	ANAPC2	9	140082173	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	756652	140082173	1131258	483	25116										
CACNA1B	774	genome.wustl.edu	37	chr9	140946583	140946583	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcaataccatcaagtctctGagagtccttcgtgtcctgcg	8	12	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:140946583G>C	ENST00000371372.1	+	25	3895	c.3750G>C	c.(3748-3750)ctG>ctC	p.L1250L	CACNA1B_ENST00000277549.5_Silent_p.L446L|CACNA1B_ENST00000277551.2_Silent_p.L1250L|CACNA1B_ENST00000371355.4_Silent_p.L1251L|CACNA1B_ENST00000371363.1_Silent_p.L1250L|CACNA1B_ENST00000371357.1_Silent_p.L1251L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1250					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAAGTCTCTGAGAGTCCTTC	0.562																																																	0													57	62	60					9																	140946583		2024	4188	6212	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3750G>C	9.37:g.140946583G>C			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.L1251	ENST00000371372.1	37	c.3753	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140946583	1	no_errors	ENST00000371355	ensembl	human	known	70_37	silent	SNP	1.000	C	C	140946583	G	C	140946583	2	2	151	1	0	0	0	0	0	0	0	1	2544	1277	45	1		1	CACNA1B	9	140946583	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	864410	140946583	266848	484	25117										
IDI2	91734	genome.wustl.edu	37	chr10	1065765	1065765	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtcatgaacacaatgtcctCtggagaaatctattgacaga	8	8	3	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:1065765C>G	ENST00000277517.1	-	5	440	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	126	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ACAATGTCCTCTGGAGAAATC	0.353																																																	0													106	95	99					10																	1065765		2203	4300	6503	SO:0001583	missense	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.376G>C	10.37:g.1065765C>G	ENSP00000277517:p.Glu126Gln			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E126Q	ENST00000277517.1	37	c.376	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236412	0.39498	.	.	ENSG00000148377	ENST00000277517	T	0.08984	3.03	3.55	-1.34	0.09143	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.301257	0.34531	N	0.003888	T	0.06142	0.0159	L	0.41573	1.285	0.09310	N	1	P	0.46277	0.875	B	0.41412	0.356	T	0.27536	-1.0071	10	0.59425	D	0.04	-8.5091	4.7838	0.13215	0.0:0.5201:0.1956:0.2843	.	126	Q9BXS1	IDI2_HUMAN	Q	126	ENSP00000277517:E126Q	ENSP00000277517:E126Q	E	-	1	0	IDI2	1055765	0.367000	0.25023	0.000000	0.03702	0.541000	0.35023	0.912000	0.28597	-0.405000	0.07599	0.185000	0.17295	GAG	IDI2	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.353	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	C	NM_033261		1065765	-1	no_errors	ENST00000277517	ensembl	human	known	70_37	missense	SNP	0.021	G	G	1065765	C	G	1065765	3	3	151	1	0	0	0	0	1	0	0	0	7520	922	32	1	311	1	IDI2	10	1065765	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		1065765	134468982	485	25118										
IDI1	3422	genome.wustl.edu	37	chr10	1087432	1087432	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcgtgttaaataattaatttCttctggaggaacctaagaca	7	6	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:1087432C>G	ENST00000381344.3	-	5	716	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	127	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TAATTAATTTCTTCTGGAGGA	0.318																																																	0													33	32	32					10																	1087432		2198	4297	6495	SO:0001583	missense	3422			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.550G>C	10.37:g.1087432C>G	ENSP00000370748:p.Glu184Gln		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E184Q	ENST00000381344.3	37	c.550	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516333	0.64634	.	.	ENSG00000067064	ENST00000381344	T	0.07800	3.16	5.73	5.73	0.89815	.	0.129496	0.64402	D	0.000001	T	0.14743	0.0356	L	0.28115	0.83	0.80722	D	1	D	0.62365	0.991	P	0.54238	0.746	T	0.01480	-1.1344	10	0.37606	T	0.19	-2.7229	20.27	0.98469	0.0:1.0:0.0:0.0	.	184	Q13907-2	.	Q	184	ENSP00000370748:E184Q	ENSP00000370748:E184Q	E	-	1	0	IDI1	1077432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.104000	0.77024	2.854000	0.98071	0.655000	0.94253	GAA	IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.318	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	C	NM_004508		1087432	-1	no_errors	ENST00000381344	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1087432	C	G	1087432	3	3	151	1	0	0	0	0	1	0	0	0	7519	922	32	1	308	1	IDI1	10	1087432	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	21667	1087432	134447315	486	25119										
CUBN	8029	genome.wustl.edu	37	chr10	17126293	17126293	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aatgtaattctgagaactgtCactctggcattgcagctcca	8	10	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:17126293C>T	ENST00000377833.4	-	17	2343	c.2278G>A	c.(2278-2280)Gac>Aac	p.D760N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	760	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGAACTGTCACTCTGGCAT	0.433																																																	0													163	152	155					10																	17126293		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2278G>A	10.37:g.17126293C>T	ENSP00000367064:p.Asp760Asn		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.D760N	ENST00000377833.4	37	c.2278	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	0.877	-0.730147	0.03135	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	5.69	2.65	0.31530	CUB (5);	0.695284	0.12543	N	0.459701	T	0.07954	0.0199	N	0.04746	-0.17	0.40098	D	0.976333	B	0.11235	0.004	B	0.13407	0.009	T	0.20042	-1.0287	10	0.11485	T	0.65	.	10.6695	0.45749	0.0:0.7477:0.1202:0.132	.	760	O60494	CUBN_HUMAN	N	760	ENSP00000367064:D760N	ENSP00000367064:D760N	D	-	1	0	CUBN	17166299	0.037000	0.19845	0.033000	0.17914	0.025000	0.11179	0.553000	0.23391	0.763000	0.33175	0.655000	0.94253	GAC	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		17126293	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.277	T	T	17126293	C	T	17126293	3	4	151	1	0	0	0	0	1	0	0	0	4056	826	29	1	8797	1	CUBN	10	17126293	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	16038861	17126293	118408454	487	25120										
CACNB2	783	genome.wustl.edu	37	chr10	18439857	18439857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaacagatttaaaggatctGatggaagcacgtcatctgat	9	6	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:18439857G>A	ENST00000324631.7	+	2	226	c.166G>A	c.(166-168)Gat>Aat	p.D56N	CACNB2_ENST00000352115.6_Missense_Mutation_p.D56N|CACNB2_ENST00000282343.8_Missense_Mutation_p.D28N|CACNB2_ENST00000377331.2_Missense_Mutation_p.D28N|CACNB2_ENST00000377328.1_Missense_Mutation_p.D56N|CACNB2_ENST00000467034.1_3'UTR	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	56				D -> N (in Ref. 4; AAQ97608). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAAAGGATCTGATGGAAGCAC	0.299																																																	0													141	146	144					10																	18439857		2203	4299	6502	SO:0001583	missense	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.166G>A	10.37:g.18439857G>A	ENSP00000320025:p.Asp56Asn		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.D56N	ENST00000324631.7	37	c.166	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146410	0.77888	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331	D;T;D;D;D	0.85171	-1.9;1.98;-1.95;-1.86;-1.85	5.93	5.93	0.95920	.	0.460481	0.23879	N	0.043664	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	B;D;P;B;D;D;B	0.89917	0.0;1.0;0.791;0.001;0.998;0.998;0.0	B;D;B;B;D;D;B	0.83275	0.001;0.996;0.107;0.002;0.995;0.995;0.001	D	0.89195	0.3553	10	0.56958	D	0.05	-5.8237	19.1254	0.93380	0.0:0.0:1.0:0.0	.	28;56;28;28;56;56;56	Q5QJA0;A6PVM6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;CACB2_HUMAN	N	56;56;56;28;28	ENSP00000320025:D56N;ENSP00000344474:D56N;ENSP00000366545:D56N;ENSP00000282343:D28N;ENSP00000366548:D28N	ENSP00000282343:D28N	D	+	1	0	CACNB2	18479863	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	8.365000	0.90108	2.826000	0.97356	0.655000	0.94253	GAT	CACNB2	-	NULL		0.299	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	G	NM_000724		18439857	1	no_errors	ENST00000324631	ensembl	human	known	70_37	missense	SNP	0.999	A	A	18439857	G	A	18439857	3	1	151	1	0	0	0	0	1	0	0	0	2558	1290	45	1	212	1	CACNB2	10	18439857	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1313564	18439857	117094890	488	25121										
ABI1	10006	genome.wustl.edu	37	chr10	27052880	27052880	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccagaaggaggagggacaGaaatgttttctaataaaata	10	5	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:27052880G>C	ENST00000376142.2	-	8	901	c.830C>G	c.(829-831)tCt>tGt	p.S277C	ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S294C|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000355394.4_Missense_Mutation_p.S278C|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376134.3_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	277	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAGGGACAGAAATGTTTTC	0.423																																																	0													78	86	83					10																	27052880		2203	4300	6503	SO:0001583	missense	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.830C>G	10.37:g.27052880G>C	ENSP00000365312:p.Ser277Cys		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.S278C	ENST00000376142.2	37	c.833	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375127	0.42105	.	.	ENSG00000136754	ENST00000376142;ENST00000355394;ENST00000346832	T;T;T	0.39997	1.05;1.15;1.14	5.21	4.31	0.51392	.	0.211669	0.23021	U	0.052855	T	0.38054	0.1026	N	0.14661	0.345	0.80722	D	1	P;P	0.46578	0.661;0.88	B;P	0.52481	0.221;0.7	T	0.30822	-0.9965	10	0.56958	D	0.05	-6.267	11.8195	0.52230	0.0817:0.0:0.9183:0.0	.	294;277	B3KX62;Q8IZP0	.;ABI1_HUMAN	C	277;278;294	ENSP00000365312:S277C;ENSP00000347555:S278C;ENSP00000279599:S294C	ENSP00000279599:S294C	S	-	2	0	ABI1	27092886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.209000	0.51122	1.188000	0.43014	0.467000	0.42956	TCT	ABI1	-	prints_p67phox		0.423	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	G	NM_005470		27052880	-1	no_errors	ENST00000355394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27052880	G	C	27052880	3	2	151	1	0	0	0	0	1	0	0	0	88	942	33	1	716	1	ABI1	10	27052880	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8613023	27052880	108481867	489	25122										
PARD3	56288	genome.wustl.edu	37	chr10	34805961	34805961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acttgttgcttggtaaggctGaaaggctgagacattgttgg	14	5	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:34805961G>A	ENST00000374789.3	-	3	674	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.Q117*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	117					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGTAAGGCTGAAAGGCTGAG	0.473																																																	0													157	139	145					10																	34805961		2203	4300	6503	SO:0001587	stop_gained	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.349C>T	10.37:g.34805961G>A	ENSP00000363921:p.Gln117*		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q117*	ENST00000374789.3	37	c.349	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.467853	0.97590	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	5.93	5.93	0.95920	.	0.234684	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000341844:Q117X	Q	-	1	0	PARD3	34845967	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAG	PARD3	-	pfam_DUF3534		0.473	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34805961	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	34805961	G	A	34805961	4	1	151	1	0	0	0	0	0	1	0	0	11467	1299	45	1	3848	1	PARD3	10	34805961	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7753081	34805961	100728786	490	25123										
RET	5979	genome.wustl.edu	37	chr10	43615040	43615040	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcggggcttcctccgcgaGagccgcaaagtggggcctgg	17	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:43615040G>A	ENST00000355710.3	+	14	2686	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E	RET_ENST00000340058.5_Silent_p.E818E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	818	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCCTCCGCGAGAGCCGCAAAG	0.706		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													19	21	20					10																	43615040		2203	4298	6501	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2454G>A	10.37:g.43615040G>A			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E818	ENST00000355710.3	37	c.2454	CCDS7200.1	10																																																																																			RET	-	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,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom		0.706	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	G	NM_020975		43615040	1	no_errors	ENST00000355710	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43615040	G	A	43615040	2	1	151	1	0	0	0	0	0	0	0	1	13265	933	33	1		1	RET	10	43615040	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8809079	43615040	91919707	491	25124										
ZNF488	118738	genome.wustl.edu	37	chr10	48370600	48370600	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caccatggcagctgggaaggGagccccgttgagcccatcgg	15	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:48370600G>C	ENST00000395702.2	+	2	295	c.68G>C	c.(67-69)gGa>gCa	p.G23A	ZNF488_ENST00000494156.1_Missense_Mutation_p.G23A|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	23					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCTGGGAAGGGAGCCCCGTTG	0.617																																																	0													54	61	59					10																	48370600		2202	4300	6502	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.68G>C	10.37:g.48370600G>C	ENSP00000379054:p.Gly23Ala		Q05CE0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G23A	ENST00000395702.2	37	c.68	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998651	0.19121	.	.	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000442001;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.72167	1.95;0.78;0.51;-0.63;1.41;1.4	4.6	-4.31	0.03698	.	1.451280	0.04855	U	0.443071	T	0.58104	0.2099	L	0.54323	1.7	0.09310	N	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.28713	-1.0035	10	0.25751	T	0.34	.	2.6059	0.04878	0.5505:0.1392:0.1699:0.1403	.	23	Q96MN9	ZN488_HUMAN	A	23	ENSP00000379054:G23A;ENSP00000401469:G23A;ENSP00000415923:G23A;ENSP00000406508:G23A;ENSP00000410326:G23A;ENSP00000412898:G23A	ENSP00000379054:G23A	G	+	2	0	ZNF488	47990606	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.118000	0.10692	-0.747000	0.04759	-0.224000	0.12420	GGA	ZNF488	-	NULL		0.617	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	HGNC	protein_coding	OTTHUMT00000314632.1	G	NM_153034		48370600	1	no_errors	ENST00000395702	ensembl	human	known	70_37	missense	SNP	0.000	C	C	48370600	G	C	48370600	3	2	151	1	0	0	0	0	1	0	0	0	17970	1174	41	1	70	1	ZNF488	10	48370600	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4755560	48370600	87164147	492	25125										
FRMPD2	143162	genome.wustl.edu	37	chr10	49459636	49459636	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggtcttccaggagctgctCagcggccaggaacaggaggg	17	10	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:49459636C>G	ENST00000374201.3	-	2	426	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E33Q|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E40Q	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	42	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGAGCTGCTCAGCGGCCAGG	0.572																																																	0													79	69	73					10																	49459636		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.124G>C	10.37:g.49459636C>G	ENSP00000363317:p.Glu42Gln		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.E42Q	ENST00000374201.3	37	c.124	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444041	0.43429	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28895	1.59;1.59;1.59	5.39	4.46	0.54185	KIND (2);	.	.	.	.	T	0.56337	0.1978	M	0.79926	2.475	0.22562	N	0.998984	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.74348	0.943;0.983;0.929	T	0.50491	-0.8822	9	0.66056	D	0.02	.	11.98	0.53115	0.0:0.8254:0.1746:0.0	.	40;42;33	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	Q	42;40;33	ENSP00000363317:E42Q;ENSP00000307079:E40Q;ENSP00000384339:E33Q	ENSP00000307079:E40Q	E	-	1	0	FRMPD2	49129642	0.037000	0.19845	0.574000	0.28523	0.202000	0.24057	0.600000	0.24104	1.245000	0.43885	0.563000	0.77884	GAG	FRMPD2	-	smart_KIND		0.572	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49459636	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.454	G	G	49459636	C	G	49459636	3	3	151	1	0	0	0	0	1	0	0	0	6076	835	29	1	3917	1	FRMPD2	10	49459636	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1089036	49459636	86075111	493	25126										
OGDHL	55753	genome.wustl.edu	37	chr10	50953419	50953419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcagggtgactgtgccctCggcaatcagcttgtctgcgt	13	12	2	1	rs376634466		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:50953419C>T	ENST00000374103.4	-	12	1685	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	OGDHL_ENST00000432695.1_Missense_Mutation_p.E325K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E477K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	534					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTGTGCCCTCGGCAATCAGC	0.582																																																	0								C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	81	71	75		1429,973,1600	4.5	0.9	10		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	477/954,325/802,534/1011	50953419	1,13005	2203	4300	6503	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1600G>A	10.37:g.50953419C>T	ENSP00000363216:p.Glu534Lys		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.E534K	ENST00000374103.4	37	c.1600	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040348	0.93630	0.0	1.16E-4	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95588	-3.75;-3.75;-3.75	5.4	4.48	0.54585	Dehydrogenase, E1 component (1);	0.103523	0.64402	D	0.000005	D	0.97458	0.9168	M	0.85630	2.765	0.80722	D	1	D;P;D	0.55605	0.965;0.917;0.972	P;P;P	0.60236	0.796;0.704;0.871	D	0.98130	1.0430	10	0.87932	D	0	.	16.2435	0.82429	0.0:0.8669:0.1331:0.0	.	477;325;534	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	K	534;477;325	ENSP00000363216:E534K;ENSP00000401356:E477K;ENSP00000390240:E325K	ENSP00000363216:E534K	E	-	1	0	OGDHL	50623425	1.000000	0.71417	0.883000	0.34634	0.682000	0.39822	4.876000	0.63079	1.381000	0.46364	0.650000	0.86243	GAG	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.582	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	C	NM_018245		50953419	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50953419	C	T	50953419	3	4	151	1	0	0	0	0	1	0	0	0	10864	893	31	1	1480	1	OGDHL	10	50953419	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1493783	50953419	84581328	494	25127										
ANK3	288	genome.wustl.edu	37	chr10	61847972	61847972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atgcttgaacaaggggcactGtggtgctgctcagaattcca	12	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:61847972G>A	ENST00000280772.2	-	29	3664	c.3473C>T	c.(3472-3474)aCa>aTa	p.T1158I	ANK3_ENST00000503366.1_Missense_Mutation_p.T1159I|ANK3_ENST00000373827.2_Missense_Mutation_p.T1152I|ANK3_ENST00000355288.2_Missense_Mutation_p.T292I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1158	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGGGGCACTGTGGTGCTGCT	0.463																																																	0													129	130	130					10																	61847972		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3473C>T	10.37:g.61847972G>A	ENSP00000280772:p.Thr1158Ile		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.T1158I	ENST00000280772.2	37	c.3473	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776164	0.70107	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.17	6.17	0.99709	.	0.000000	0.43416	D	0.000572	T	0.42539	0.1207	L	0.50333	1.59	0.80722	D	1	B;D;P;B;P;B;B	0.63046	0.071;0.992;0.954;0.215;0.647;0.198;0.307	B;P;P;B;B;B;B	0.54924	0.04;0.764;0.478;0.101;0.131;0.171;0.051	T	0.04440	-1.0951	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1159;292;691;1152;1158;393;292	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	I	1158;1152;292;292;1159;1138;393;793;793;291;691	ENSP00000280772:T1158I;ENSP00000362933:T1152I;ENSP00000347436:T292I;ENSP00000425236:T1159I	ENSP00000280772:T1158I	T	-	2	0	ANK3	61517978	1.000000	0.71417	0.972000	0.41901	0.946000	0.59487	4.585000	0.60977	2.941000	0.99782	0.655000	0.94253	ACA	ANK3	-	NULL		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61847972	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61847972	G	A	61847972	3	1	151	1	0	0	0	0	1	0	0	0	622	1377	48	4	10033	4	ANK3	10	61847972	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10894553	61847972	73686775	495	25128										
SIRT1	23411	genome.wustl.edu	37	chr10	69648778	69648778	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gattgttattaatatcctttCagaaccaccaaaaaggaaaa	5	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:69648778C>G	ENST00000212015.6	+	3	739	c.686C>G	c.(685-687)tCa>tGa	p.S229*	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	229	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AATATCCTTTCAGAACCACCA	0.338																																																	0													61	61	61					10																	69648778		2203	4300	6503	SO:0001587	stop_gained	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.686C>G	10.37:g.69648778C>G	ENSP00000212015:p.Ser229*		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Nonsense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.S229*	ENST00000212015.6	37	c.686	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.927310	0.97110	.	.	ENSG00000096717	ENST00000212015	.	.	.	5.61	5.61	0.85477	.	0.318978	0.29892	N	0.010935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.4704	19.2326	0.93846	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000212015:S229X	S	+	2	0	SIRT1	69318784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	TCA	SIRT1	-	NULL		0.338	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	C			69648778	1	no_errors	ENST00000212015	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	69648778	C	G	69648778	4	3	151	1	0	0	0	0	0	1	0	0	14367	838	29	1	696	1	SIRT1	10	69648778	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7800806	69648778	65885969	496	25129										
CCAR1	55749	genome.wustl.edu	37	chr10	70531119	70531119	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagataaaaaagaagaaagaGatgatgaaactgatgaacca							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:70531119G>A	ENST00000265872.6	+	18	2574	c.2455G>A	c.(2455-2457)Gat>Aat	p.D819N	CCAR1_ENST00000543719.1_Missense_Mutation_p.D804N|CCAR1_ENST00000535016.1_Missense_Mutation_p.D804N	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	819	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						agaagaaagagatgatgaaac	0.313																																																	0													56	55	55					10																	70531119		2203	4298	6501	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2455G>A	10.37:g.70531119G>A	ENSP00000265872:p.Asp819Asn		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.D819N	ENST00000265872.6	37	c.2455	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233490	0.79688	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000536012	T;T;T;T;T	0.24151	1.87;1.88;1.88;1.88;1.98	5.78	5.78	0.91487	.	0.246093	0.40554	N	0.001075	T	0.22399	0.0540	N	0.19112	0.55	0.53005	D	0.999961	P;P	0.46987	0.827;0.888	B;P	0.44561	0.418;0.453	T	0.01834	-1.1264	10	0.18276	T	0.48	-13.9535	19.676	0.95934	0.0:0.0:1.0:0.0	.	804;819	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	N	819;804;804;804;624	ENSP00000265872:D819N;ENSP00000441820:D804N;ENSP00000445254:D804N;ENSP00000439252:D804N;ENSP00000439642:D624N	ENSP00000265872:D819N	D	+	1	0	CCAR1	70201125	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.954000	0.87848	2.739000	0.93911	0.558000	0.71614	GAT	CCAR1	-	NULL		0.313	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237		70531119	1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70531119	G	A	70531119	3	1	151	1	0	0	0	0	1	0	0	0	2735	942	33	1	2521	1	CCAR1	10	70531119	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	882341	70531119	65003628	497	25130	146	2								
CCAR1	55749	genome.wustl.edu	37	chr10	70531125	70531125	+	Missense_Mutation	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaaagaagaaagagatgatGaaactgatgaaccaaaaccc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:70531125G>A	ENST00000265872.6	+	18	2580	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	CCAR1_ENST00000543719.1_Missense_Mutation_p.E806K|CCAR1_ENST00000535016.1_Missense_Mutation_p.E806K	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	821	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						aagagatgatgaaactgatga	0.323																																																	0													57	56	56					10																	70531125		2201	4295	6496	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2461G>A	10.37:g.70531125G>A	ENSP00000265872:p.Glu821Lys		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E821K	ENST00000265872.6	37	c.2461	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186687	0.57909	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000536012	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.94;1.94	5.78	5.78	0.91487	.	0.168534	0.51477	D	0.000087	T	0.15998	0.0385	N	0.19112	0.55	0.52501	D	0.999958	P;P	0.43750	0.728;0.816	B;B	0.36464	0.156;0.225	T	0.05241	-1.0897	10	0.06365	T	0.9	-14.6011	19.676	0.95934	0.0:0.0:1.0:0.0	.	806;821	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	K	821;806;806;806;626	ENSP00000265872:E821K;ENSP00000441820:E806K;ENSP00000445254:E806K;ENSP00000439252:E806K;ENSP00000439642:E626K	ENSP00000265872:E821K	E	+	1	0	CCAR1	70201131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.828000	0.99408	2.739000	0.93911	0.558000	0.71614	GAA	CCAR1	-	NULL		0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237		70531125	1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70531125	G	A	70531125	3	1	151	1	0	0	0	0	1	0	0	0	2735	1291	45	1	2527	1	CCAR1	10	70531125	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6	70531125	65003622	498	25131	146	2								
NODAL	4838	genome.wustl.edu	37	chr10	72195205	72195205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccttccgacacagttgacttCtgtctggcaagtgatgtcga	10	11	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:72195205C>G	ENST00000287139.3	-	2	727	c.728G>C	c.(727-729)aGa>aCa	p.R243T	AC022532.1_ENST00000420338.2_Missense_Mutation_p.S51C	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	243					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CAGTTGACTTCTGTCTGGCAA	0.592																																																	0													110	97	101					10																	72195205		2203	4300	6503	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.728G>C	10.37:g.72195205C>G	ENSP00000287139:p.Arg243Thr		Q2M3A5|Q8N4V3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R243T	ENST00000287139.3	37	c.728	CCDS7304.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.363620|2.363620	0.41902|0.41902	.|.	.|.	ENSG00000156574|ENSG00000197604	ENST00000287139;ENST00000414871|ENST00000420338	T;T|.	0.69806|.	-0.43;-0.43|.	5.58|5.58	3.61|3.61	0.41365|0.41365	Transforming growth factor-beta, C-terminal (1);|.	0.468202|.	0.25961|.	N|.	0.027186|.	T|T	0.46190|0.46190	0.1380|0.1380	L|L	0.32530|0.32530	0.975|0.975	0.35184|0.35184	D|D	0.772757|0.772757	B|.	0.24823|.	0.112|.	B|.	0.22386|.	0.039|.	T|T	0.59064|0.59064	-0.7524|-0.7524	10|6	0.20046|0.87932	T|D	0.44|0	.|.	5.9557|5.9557	0.19271|0.19271	0.1382:0.6496:0.1345:0.0778|0.1382:0.6496:0.1345:0.0778	.|.	243|.	Q96S42|.	NODAL_HUMAN|.	T|C	243;188|51	ENSP00000287139:R243T;ENSP00000394468:R188T|.	ENSP00000287139:R243T|ENSP00000411125:S51C	R|S	-|+	2|2	0|0	NODAL|AC022532.1	71865211|71865211	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	0.176000|0.176000	0.16782|0.16782	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	AGA|TCT	NODAL	-	NULL		0.592	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	HGNC	protein_coding	OTTHUMT00000048511.1	C	NM_018055		72195205	-1	no_errors	ENST00000287139	ensembl	human	known	70_37	missense	SNP	0.995	G	G	72195205	C	G	72195205	3	3	151	1	0	0	0	0	1	0	0	0	10542	913	32	1	323	1	NODAL	10	72195205	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1664080	72195205	63339542	499	25132										
GRID1	2894	genome.wustl.edu	37	chr10	87484394	87484394	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtccacaacgctctccctctCtggggtgatggtgatggcag	13	12	2	2	rs201971845		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:87484394C>G	ENST00000327946.7	-	11	1658	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	GRID1_ENST00000536331.1_Missense_Mutation_p.E96Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	525					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTCTCCCTCTCTGGGGTGATG	0.512										Multiple Myeloma(13;0.14)																																							0													66	63	64					10																	87484394		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1573G>C	10.37:g.87484394C>G	ENSP00000330148:p.Glu525Gln		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E525Q	ENST00000327946.7	37	c.1573	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953982	0.73902	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.38560	1.13;1.13	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.62397	-0.6863	10	0.48119	T	0.1	.	19.0851	0.93200	0.0:1.0:0.0:0.0	.	525	Q9ULK0	GRID1_HUMAN	Q	525;96	ENSP00000330148:E525Q;ENSP00000444455:E96Q	ENSP00000330148:E525Q	E	-	1	0	GRID1	87474374	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	7.818000	0.86416	2.741000	0.93983	0.650000	0.86243	GAG	GRID1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	C	XM_043613		87484394	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87484394	C	G	87484394	3	3	151	1	0	0	0	0	1	0	0	0	6791	922	32	1	1480	1	GRID1	10	87484394	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	15289189	87484394	48050353	500	25133										
SNCG	6623	genome.wustl.edu	37	chr10	88719792	88719792	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggagcaggccaacgccgtGagcgaggctgtggtgagcag	18	9	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:88719792G>A	ENST00000372017.3	+	3	240	c.198G>A	c.(196-198)gtG>gtA	p.V66V	SNCG_ENST00000483064.1_3'UTR|MMRN2_ENST00000372027.5_5'Flank|SNCG_ENST00000348795.4_Missense_Mutation_p.E84K	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	66	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CCAACGCCGTGAGCGAGGCTG	0.672																																																	0													90	71	77					10																	88719792		2203	4299	6502	SO:0001819	synonymous_variant	6623			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.198G>A	10.37:g.88719792G>A			O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein	p.E84K	ENST00000372017.3	37	c.250	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141023	0.37825	.	.	ENSG00000173267	ENST00000348795	D	0.88124	-2.34	4.93	0.425	0.16473	.	.	.	.	.	D	0.89368	0.6695	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87891	0.2684	6	0.87932	D	0	-2.2336	10.3679	0.44035	0.0844:0.5153:0.4002:0.0	.	.	.	.	K	84	ENSP00000344658:E84K	ENSP00000344658:E84K	E	+	1	0	SNCG	88709772	1.000000	0.71417	0.891000	0.34965	0.663000	0.39108	0.835000	0.27531	0.215000	0.20761	0.561000	0.74099	GAG	SNCG	-	NULL		0.672	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	G			88719792	1	no_errors	ENST00000348795	ensembl	human	known	70_37	missense	SNP	0.989	A	A	88719792	G	A	88719792	2	1	151	1	0	0	0	0	0	0	0	1	14873	1277	45	1		1	SNCG	10	88719792	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1235398	88719792	46814955	501	25134										
BTAF1	9044	genome.wustl.edu	37	chr10	93778648	93778648	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggcagttcagaattcttctCtacatgatattcaacatgcc	6	10	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:93778648C>G	ENST00000265990.6	+	34	5127	c.4819C>G	c.(4819-4821)Cta>Gta	p.L1607V	BTAF1_ENST00000544642.1_Missense_Mutation_p.L435V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1607					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAATTCTTCTCTACATGATAT	0.383																																																	0													149	139	142					10																	93778648		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4819C>G	10.37:g.93778648C>G	ENSP00000265990:p.Leu1607Val		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1607V	ENST00000265990.6	37	c.4819	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124398	0.77436	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75704	-0.96;-0.96	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.76170	2.325	0.80722	D	1	D	0.56035	0.974	P	0.47941	0.562	T	0.82924	-0.0216	10	0.62326	D	0.03	-14.5806	19.7838	0.96428	0.0:1.0:0.0:0.0	.	1607	O14981	BTAF1_HUMAN	V	1607;435;457	ENSP00000265990:L1607V;ENSP00000439924:L435V	ENSP00000265990:L1607V	L	+	1	2	BTAF1	93768628	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.057000	0.71119	2.666000	0.90696	0.557000	0.71058	CTA	BTAF1	-	NULL		0.383	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	C	NM_003972		93778648	1	no_errors	ENST00000265990	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93778648	C	G	93778648	3	3	151	1	0	0	0	0	1	0	0	0	1539	912	32	1	4953	1	BTAF1	10	93778648	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5058856	93778648	41756099	502	25135										
IDE	3416	genome.wustl.edu	37	chr10	94264597	94264597	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagaaccatctctattaagtCaggtctaaattcttccagta	6	9	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:94264597C>G	ENST00000265986.6	-	11	1440	c.1384G>C	c.(1384-1386)Gac>Cac	p.D462H		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	462					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TCTATTAAGTCAGGTCTAAAT	0.308																																																	0													53	52	52					10																	94264597		2203	4299	6502	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1384G>C	10.37:g.94264597C>G	ENSP00000265986:p.Asp462His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D462H	ENST00000265986.6	37	c.1384	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643799	0.87859	.	.	ENSG00000119912	ENST00000265986	T	0.33216	1.42	5.04	5.04	0.67666	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.63488	-0.6626	10	0.72032	D	0.01	-17.4179	18.7333	0.91744	0.0:1.0:0.0:0.0	.	462	P14735	IDE_HUMAN	H	462	ENSP00000265986:D462H	ENSP00000265986:D462H	D	-	1	0	IDE	94254577	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.437000	0.66544	2.505000	0.84491	0.460000	0.39030	GAC	IDE	-	superfamily_Metalloenz_metal-bd		0.308	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	C	NM_004969		94264597	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94264597	C	G	94264597	3	3	151	1	0	0	0	0	1	0	0	0	7513	826	29	1	1735	1	IDE	10	94264597	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	485949	94264597	41270150	503	25136										
IDE	3416	genome.wustl.edu	37	chr10	94269864	94269864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctggcaatggaacatttttGttctctacttcagaaaataa	6	7	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:94269864G>T	ENST00000265986.6	-	6	896	c.840C>A	c.(838-840)aaC>aaA	p.N280K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	280					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	GAACATTTTTGTTCTCTACTT	0.318																																																	0													131	137	135					10																	94269864		2203	4299	6502	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.840C>A	10.37:g.94269864G>T	ENSP00000265986:p.Asn280Lys		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.N280K	ENST00000265986.6	37	c.840	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025889	0.75390	.	.	ENSG00000119912	ENST00000265986	T	0.33654	1.4	5.6	3.56	0.40772	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.83384	2.64	0.80722	D	1	D	0.67145	0.996	P	0.60886	0.88	T	0.57063	-0.7875	10	0.54805	T	0.06	-18.4264	9.8383	0.40982	0.2152:0.0:0.7848:0.0	.	280	P14735	IDE_HUMAN	K	280	ENSP00000265986:N280K	ENSP00000265986:N280K	N	-	3	2	IDE	94259844	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.993000	0.49425	0.535000	0.28714	0.563000	0.77884	AAC	IDE	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.318	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	G	NM_004969		94269864	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94269864	G	T	94269864	3	4	151	1	0	0	0	0	1	0	0	0	7513	1368	48	4	2299	4	IDE	10	94269864	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5267	94269864	41264883	504	25137										
C10orf12	26148	genome.wustl.edu	37	chr10	98742267	98742267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttccgggggagtcagtgaaGatgtcatttctaggcctcat	12	8	4	2	rs373519273		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:98742267G>A	ENST00000286067.2	+	1	1227	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	374								p.D374N(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGTCAGTGAAGATGTCATTTC	0.517																																																	2	Substitution - Missense(2)	lung(2)						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	84	84	84		1120	2.8	0.4	10		84	0,8600		0,0,4300	no	missense	C10orf12	NM_015652.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	374/1248	98742267	1,13005	2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1120G>A	10.37:g.98742267G>A	ENSP00000286067:p.Asp374Asn		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.D374N	ENST00000286067.2	37	c.1120	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	7.252	0.603499	0.14002	2.27E-4	0.0	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09073	3.02	6.05	2.82	0.32997	.	0.598474	0.13669	N	0.371010	T	0.07279	0.0184	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.29058	-1.0024	10	0.59425	D	0.04	0.2316	11.102	0.48179	0.2285:0.0:0.7715:0.0	.	208;374	A0PJI9;Q8N655	.;CJ012_HUMAN	N	374;208	ENSP00000286067:D374N	ENSP00000286067:D374N	D	+	1	0	C10orf12	98732257	0.004000	0.15560	0.405000	0.26409	0.267000	0.26476	1.157000	0.31724	0.910000	0.36722	-0.768000	0.03414	GAT	C10orf12	-	NULL		0.517	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742267	1	no_errors	ENST00000286067	ensembl	human	known	70_37	missense	SNP	0.097	A	A	98742267	G	A	98742267	3	1	151	1	0	0	0	0	1	0	0	0	1593	942	33	1	1122	1	C10orf12	10	98742267	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4472403	98742267	36792480	505	25138										
SFRP5	6425	genome.wustl.edu	37	chr10	99527272	99527272	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggcaaggaggagtgcccttCagtggggctctgccgccccg	17	13	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:99527272C>T	ENST00000266066.3	-	3	1071	c.953G>A	c.(952-954)tGa>tAa	p.*318*		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	0					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.?(1)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GAGTGCCCTTCAGTGGGGCTC	0.577																																																	1	Unknown(1)	ovary(1)											35	29	31					10																	99527272		2202	4299	6501	SO:0001819	synonymous_variant	6425			AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"Secreted frizzled-related proteins"	10779	protein-coding gene	gene with protein product	"secreted apoptosis related protein 3"	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.953G>A	10.37:g.99527272C>T			O14780|Q86TH7	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.*318	ENST00000266066.3	37	c.953	CCDS7472.1	10																																																																																			SFRP5	-	NULL		0.577	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP5	HGNC	protein_coding	OTTHUMT00000049742.1	C	NM_003015		99527272	-1	no_errors	ENST00000266066	ensembl	human	known	70_37	silent	SNP	0.998	T	T	99527272	C	T	99527272	2	4	151	1	0	0	0	0	0	0	0	1	14194	837	29	1		1	SFRP5	10	99527272	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	785005	99527272	36007475	506	25139										
SEMA4G	57715	genome.wustl.edu	37	chr10	102738363	102738363	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agccgccacccacactccctGagaactgaggagacaccaat	8	16	0	3	rs192790321		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:102738363G>A	ENST00000370250.4	+	6	982	c.609G>A	c.(607-609)ctG>ctA	p.L203L	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.L203L|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000210633.3_Silent_p.L203L	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	203	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CACACTCCCTGAGAACTGAGG	0.547																																																	0													55	53	53					10																	102738363		2203	4300	6503	SO:0001819	synonymous_variant	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.609G>A	10.37:g.102738363G>A			A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L203	ENST00000370250.4	37	c.609		10																																																																																			SEMA4G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.547	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	G			102738363	1	no_errors	ENST00000210633	ensembl	human	known	70_37	silent	SNP	0.996	A	A	102738363	G	A	102738363	2	1	151	1	0	0	0	0	0	0	0	1	14066	1277	45	1		1	SEMA4G	10	102738363	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3211091	102738363	32796384	507	25140										
KCNIP2	30819	genome.wustl.edu	37	chr10	103587399	103587399	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttccctgcattactaaatCaggcctgagtccaggtcagg	9	11	2	1	rs536763907		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:103587399C>G	ENST00000356640.2	-	9	1041				KCNIP2_ENST00000461105.1_Intron|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000370046.1_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2						clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATTACTAAATCAGGCCTGAGT	0.478																																																	0													111	91	98					10																	103587399		2203	4300	6503	SO:0001627	intron_variant	30819				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.765+46G>C	10.37:g.103587399C>G			A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Nonstop_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.*185S	ENST00000356640.2	37	c.554	CCDS7522.1	10	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682380	0.14907	.	.	ENSG00000120049	ENST00000239117	.	.	.	4.77	-0.941	0.10402	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9289	0.03323	0.1281:0.2323:0.3783:0.2612	.	.	.	.	S	185	.	.	X	-	2	2	KCNIP2	103577389	0.000000	0.05858	0.009000	0.14445	0.463000	0.32649	-1.351000	0.02622	-0.245000	0.09625	0.561000	0.74099	TGA	KCNIP2	-	NULL		0.478	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	KCNIP2	HGNC	protein_coding	OTTHUMT00000049973.1	C			103587399	-1	no_errors	ENST00000239117	ensembl	human	known	70_37	nonstop	SNP	0.000	G	G	103587399	C	G	103587399	1	3	151	0	1	0	0	0	0	0	0	0	8060	840	29	1		1	KCNIP2	10	103587399	Intron	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	849036	103587399	31947348	508	25141										
CNNM2	54805	genome.wustl.edu	37	chr10	104835960	104835960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagcaataaccagctcaattCttcgctcctccaagtctaca	4	15	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:104835960C>T	ENST00000369878.4	+	7	2539	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	CNNM2_ENST00000433628.2_Missense_Mutation_p.S762F|CNNM2_ENST00000475511.1_3'UTR	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	784					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)			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)		CAGCTCAATTCTTCGCTCCTC	0.552																																																	0													71	75	74					10																	104835960		2056	4206	6262	SO:0001583	missense	54805			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.2351C>T	10.37:g.104835960C>T	ENSP00000358894:p.Ser784Phe		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.S785F	ENST00000369878.4	37	c.2354	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830159	0.91036	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.54675	0.56;1.31	5.82	5.82	0.92795	.	0.249514	0.40728	N	0.001029	T	0.71384	0.3333	M	0.66297	2.02	0.47153	D	0.999336	D;D	0.71674	0.998;0.994	D;P	0.63597	0.916;0.825	T	0.72730	-0.4205	10	0.87932	D	0	.	20.0926	0.97825	0.0:1.0:0.0:0.0	.	762;784	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	F	785;763;784;762	ENSP00000392875:S763F;ENSP00000358894:S784F	ENSP00000286899:S762F	S	+	2	0	CNNM2	104825950	0.961000	0.32948	0.013000	0.15412	0.949000	0.60115	4.379000	0.59575	2.745000	0.94114	0.561000	0.74099	TCT	CNNM2	-	NULL		0.552	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	C	NM_017649		104835960	1	no_errors	ENST00000457502	ensembl	human	known	70_37	missense	SNP	0.798	T	T	104835960	C	T	104835960	3	4	151	1	0	0	0	0	1	0	0	0	3618	913	32	1	2419	1	CNNM2	10	104835960	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1248561	104835960	30698787	509	25142										
PLEKHA1	59338	genome.wustl.edu	37	chr10	124172455	124172455	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtaccaaagcagtcagactCacagcctaattctgataacc	7	12	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:124172455C>G	ENST00000368990.3	+	6	493	c.362C>G	c.(361-363)tCa>tGa	p.S121*	PLEKHA1_ENST00000368989.2_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000538022.1_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000433307.1_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000368988.1_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000494222.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	121					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGTCAGACTCACAGCCTAAT	0.383																																																	0													111	98	103					10																	124172455		2203	4300	6503	SO:0001587	stop_gained	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.362C>G	10.37:g.124172455C>G	ENSP00000357986:p.Ser121*		B3KQ55|D3DRE2|Q9BVK0	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S121*	ENST00000368990.3	37	c.362	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.492317	0.97612	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.88	5.88	0.94601	.	0.374339	0.30999	N	0.008452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-7.477	20.2314	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000357984:S121X	S	+	2	0	PLEKHA1	124162445	0.975000	0.34042	1.000000	0.80357	0.985000	0.73830	1.893000	0.39758	2.789000	0.95967	0.591000	0.81541	TCA	PLEKHA1	-	NULL		0.383	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	C	NM_001001974		124172455	1	no_errors	ENST00000368990	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	124172455	C	G	124172455	4	3	151	1	0	0	0	0	0	1	0	0	12079	838	29	1	380	1	PLEKHA1	10	124172455	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	19336495	124172455	11362292	510	25143										
MKI67	4288	genome.wustl.edu	37	chr10	129905148	129905148	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtctctcctgatgtctgtgtGagcttgccaactgctaggag	12	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:129905148G>C	ENST00000368654.3	-	13	5331	c.4956C>G	c.(4954-4956)ctC>ctG	p.L1652L	MKI67_ENST00000368653.3_Silent_p.L1292L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1652	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTGTGTGAGCTTGCCAA	0.502																																																	0													223	218	219					10																	129905148		2203	4300	6503	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4956C>G	10.37:g.129905148G>C			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L1652	ENST00000368654.3	37	c.4956	CCDS7659.1	10																																																																																			MKI67	-	pfam_K167R		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129905148	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	silent	SNP	0.000	C	C	129905148	G	C	129905148	2	2	151	1	0	0	0	0	0	0	0	1	9621	1277	45	1		1	MKI67	10	129905148	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5732693	129905148	5629599	511	25144										
CYP2E1	1571	genome.wustl.edu	37	chr10	135352373	135352373	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcattttaatttgaagcctCtcgttgacccaaaggatatc	7	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:135352373C>G	ENST00000463117.2	+	11	1659	c.1387C>G	c.(1387-1389)Ctc>Gtc	p.L463V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.L463V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	463					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTGAAGCCTCTCGTTGACCC	0.468									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													233	189	204					10																	135352373		2203	4300	6503	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1387C>G	10.37:g.135352373C>G	ENSP00000440689:p.Leu463Val		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L463V	ENST00000463117.2	37	c.1387	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186581	0.21870	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.69175	-0.38;-0.38	5.1	2.0	0.26442	.	0.455963	0.23270	N	0.050039	T	0.56262	0.1973	N	0.03983	-0.305	0.09310	N	1	D	0.63046	0.992	D	0.72338	0.977	T	0.49925	-0.8887	10	0.25106	T	0.35	.	8.8678	0.35298	0.0:0.6346:0.2826:0.0828	.	463	P05181	CP2E1_HUMAN	V	463	ENSP00000440689:L463V;ENSP00000252945:L463V	ENSP00000252945:L463V	L	+	1	0	CYP2E1	135202363	0.000000	0.05858	0.054000	0.19295	0.218000	0.24690	-0.045000	0.12003	0.829000	0.34733	0.561000	0.74099	CTC	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.468	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	C	NM_000773		135352373	1	no_errors	ENST00000252945	ensembl	human	known	70_37	missense	SNP	0.230	G	G	135352373	C	G	135352373	3	3	151	1	0	0	0	0	1	0	0	0	4175	913	32	1	1421	1	CYP2E1	10	135352373	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5447225	135352373	182374	512	25145										
TSPAN4	7106	genome.wustl.edu	37	chr11	865927	865927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctccctgcagccgtgctacGagacggtgaaggtgtggctt	14	12	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:865927G>A	ENST00000397404.1	+	8	833	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TSPAN4_ENST00000397406.1_Missense_Mutation_p.E192K|TSPAN4_ENST00000409531.1_Missense_Mutation_p.E211K|TSPAN4_ENST00000346501.4_Missense_Mutation_p.E158K|TSPAN4_ENST00000409543.2_Missense_Mutation_p.E192K|TSPAN4_ENST00000397396.1_Missense_Mutation_p.E128K|TSPAN4_ENST00000397397.2_Missense_Mutation_p.E192K|TSPAN4_ENST00000525201.1_Missense_Mutation_p.E128K|TSPAN4_ENST00000397408.1_Missense_Mutation_p.E192K|TSPAN4_ENST00000397411.2_Missense_Mutation_p.E192K	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	192					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGTGCTACGAGACGGTGAA	0.677																																																	0													88	66	73					11																	865927		2203	4298	6501	SO:0001583	missense	7106			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.574G>A	11.37:g.865927G>A	ENSP00000380553:p.Glu192Lys		Q6IAP6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E192K	ENST00000397404.1	37	c.574	CCDS7721.1	11	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821811	0.50633	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531	T;T;T;T;T;T;T;T;T;D;T	0.87650	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-2.28;-1.39	3.62	2.69	0.31865	Tetraspanin, EC2 domain (1);	0.223543	0.37393	N	0.002111	D	0.89012	0.6594	M	0.66939	2.045	0.44603	D	0.997579	D	0.65815	0.995	P	0.60541	0.876	D	0.85308	0.1077	10	0.12103	T	0.63	.	10.4477	0.44503	0.0:0.1987:0.8013:0.0	.	192	O14817	TSN4_HUMAN	K	192;192;128;192;192;192;128;192;128;158;211	ENSP00000380552:E192K;ENSP00000380558:E192K;ENSP00000380551:E128K;ENSP00000380555:E192K;ENSP00000380554:E192K;ENSP00000386513:E192K;ENSP00000431943:E128K;ENSP00000380553:E192K;ENSP00000434818:E128K;ENSP00000324304:E158K;ENSP00000386899:E211K	ENSP00000324304:E158K	E	+	1	0	TSPAN4	855927	0.996000	0.38824	0.961000	0.40146	0.198000	0.23893	2.868000	0.48436	0.728000	0.32382	0.306000	0.20318	GAG	TSPAN4	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.677	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN4	HGNC	protein_coding	OTTHUMT00000257102.2	G			865927	1	no_errors	ENST00000397397	ensembl	human	known	70_37	missense	SNP	0.993	A	A	865927	G	A	865927	3	1	151	1	0	0	0	0	1	0	0	0	16680	1059	37	1	596	1	TSPAN4	11	865927	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		865927	134140589	513	25146										
AP2A2	161	genome.wustl.edu	37	chr11	994122	994122	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccggagcgggagtcctccatCttggcaaagctcaagaagaa	12	11	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:994122C>G	ENST00000448903.2	+	14	1974	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	AP2A2_ENST00000332231.5_Missense_Mutation_p.I612M|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	611					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTCCTCCATCTTGGCAAAGC	0.627																																																	0													58	70	66					11																	994122		1976	4139	6115	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1833C>G	11.37:g.994122C>G	ENSP00000413234:p.Ile611Met		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.I612M	ENST00000448903.2	37	c.1836	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946734	0.34377	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.18657	2.2;2.21	3.16	2.24	0.28232	Armadillo-like helical (1);	0.126279	0.52532	D	0.000069	T	0.39253	0.1071	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.59012	0.85;0.833	T	0.23904	-1.0175	10	0.52906	T	0.07	-53.2188	6.4782	0.22047	0.0:0.7001:0.0:0.2999	.	612;611	O94973-2;O94973	.;AP2A2_HUMAN	M	611;612;612;348;351	ENSP00000413234:I611M;ENSP00000327694:I612M	ENSP00000327694:I612M	I	+	3	3	AP2A2	984122	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.355000	0.34068	0.905000	0.36596	0.561000	0.74099	ATC	AP2A2	-	pirsf_AP2_complex_asu		0.627	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	C	NM_012305		994122	1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	1.000	G	G	994122	C	G	994122	3	3	151	1	0	0	0	0	1	0	0	0	740	903	32	1	1887	1	AP2A2	11	994122	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	128195	994122	134012394	514	25147										
MUC2	4583	genome.wustl.edu	37	chr11	1104215	1104215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtctgcgggctccccaccggCacctcccgccgggcccggcg	14	21	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:1104215C>T	ENST00000441003.2	+	49	8433	c.8406C>T	c.(8404-8406)ggC>ggT	p.G2802G		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5164					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCCCACCGGCACCTCCCGCC	0.706																																																	0													17	21	19					11																	1104215		1886	4107	5993	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8406C>T	11.37:g.1104215C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G2802	ENST00000441003.2	37	c.8406		11																																																																																			MUC2	-	NULL		0.706	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	C	NM_002457		1104215	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1104215	C	T	1104215	2	4	151	1	0	0	0	0	0	0	0	1	9998	697	25	4		4	MUC2	11	1104215	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	110093	1104215	133902301	515	25148										
NUP98	4928	genome.wustl.edu	37	chr11	3774579	3774579	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcaccaagcccagttccaaGagtcccaggtgctggtttac	10	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:3774579G>C	ENST00000324932.7	-	11	1654	c.1234C>G	c.(1234-1236)Ctt>Gtt	p.L412V	NUP98_ENST00000359171.4_Missense_Mutation_p.L412V|NUP98_ENST00000397007.4_Missense_Mutation_p.L429V|NUP98_ENST00000397004.4_Missense_Mutation_p.L412V|NUP98_ENST00000355260.3_Missense_Mutation_p.L412V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	429	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTTCCAAGAGTCCCAGGT	0.413			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													89	85	86					11																	3774579		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1234C>G	11.37:g.3774579G>C	ENSP00000316032:p.Leu412Val		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.L412V	ENST00000324932.7	37	c.1234	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469007|3.469007	0.63625|0.63625	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007|ENST00000527104	.|.	.|.	.|.	5.34|5.34	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60676|0.60676	0.2287|0.2287	L|L	0.58810|0.58810	1.83|1.83	0.39497|0.39497	D|D	0.968134|0.968134	P;D;D;D|.	0.67145|.	0.94;0.958;0.99;0.996|.	P;P;P;P|.	0.62435|.	0.66;0.699;0.866;0.902|.	T|T	0.60490|0.60490	-0.7253|-0.7253	9|5	0.24483|.	T|.	0.36|.	.|.	8.591|8.591	0.33688|0.33688	0.0781:0.0:0.7717:0.1501|0.0781:0.0:0.7717:0.1501	.|.	429;412;412;412|.	P52948-3;P52948-4;P52948-2;P52948-5|.	.;.;.;.|.	V|C	412;412;412;412;429|31	.|.	ENSP00000316032:L412V|.	L|S	-|-	1|2	0|0	NUP98|NUP98	3731155|3731155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.602000|1.602000	0.36783|0.36783	1.215000|1.215000	0.43411|0.43411	0.655000|0.655000	0.94253|0.94253	CTT|TCT	NUP98	-	NULL		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3774579	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3774579	G	C	3774579	3	2	151	1	0	0	0	0	1	0	0	0	10797	942	33	1	4281	1	NUP98	11	3774579	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2670364	3774579	131231937	516	25149										
FAM160A2	84067	genome.wustl.edu	37	chr11	6239851	6239851	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcgtgcccatgaggcatgctCtggacgaggtgggctggggg	19	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:6239851C>G	ENST00000449352.2	-	8	1677	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	FAM160A2_ENST00000524416.1_Missense_Mutation_p.E472Q|FAM160A2_ENST00000265978.4_Missense_Mutation_p.E472Q			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607																																																	0													121	106	111					11																	6239851		2201	4296	6497	SO:0001583	missense	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1414G>C	11.37:g.6239851C>G	ENSP00000416918:p.Glu472Gln		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E472Q	ENST00000449352.2	37	c.1414	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750059	0.69533	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.16743	2.96;2.89;2.32	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	T	0.37348	0.1000	M	0.61703	1.905	0.45439	D	0.998412	D;D;D	0.71674	0.997;0.967;0.998	P;P;D	0.65684	0.854;0.622;0.937	T	0.01496	-1.1340	10	0.20519	T	0.43	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	472;472;472	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	472;397;472;472	ENSP00000416918:E472Q;ENSP00000265978:E472Q;ENSP00000431773:E472Q	ENSP00000265978:E472Q	E	-	1	0	FAM160A2	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG	FAM160A2	-	NULL		0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	C	NM_032127		6239851	-1	no_errors	ENST00000265978	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6239851	C	G	6239851	3	3	151	1	0	0	0	0	1	0	0	0	5484	922	32	1	1566	1	FAM160A2	11	6239851	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2465272	6239851	128766665	517	25150										
CNGA4	1262	genome.wustl.edu	37	chr11	6265351	6265351	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaatgaacaagttggacgtGaatgctgaggcagctgagat	13	5	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:6265351G>C	ENST00000379936.2	+	6	1555	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	480					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTGGACGTGAATGCTGAGG	0.567																																																	0													111	93	99					11																	6265351		2201	4296	6497	SO:0001819	synonymous_variant	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1440G>C	11.37:g.6265351G>C				Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.V480	ENST00000379936.2	37	c.1440	CCDS31408.1	11																																																																																			CNGA4	-	NULL		0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	G	NM_001037329		6265351	1	no_errors	ENST00000379936	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6265351	G	C	6265351	2	2	151	1	0	0	0	0	0	0	0	1	3604	1277	45	1		1	CNGA4	11	6265351	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	25500	6265351	128741165	518	25151										
SYT9	143425	genome.wustl.edu	37	chr11	7324578	7324578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggagaactgtgcccatggcGtccgcgtgcagcgccaagtc	14	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:7324578G>A	ENST00000318881.6	+	2	691	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	SYT9_ENST00000396716.2_Missense_Mutation_p.V120I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	152					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGCCCATGGCGTCCGCGTGCA	0.612																																																	0													56	46	49					11																	7324578		2201	4296	6497	SO:0001583	missense	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.454G>A	11.37:g.7324578G>A	ENSP00000324419:p.Val152Ile			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V152I	ENST00000318881.6	37	c.454	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	8.075	0.771121	0.16051	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.55413	0.52;0.56	5.73	-0.417	0.12347	.	0.942734	0.08946	N	0.870867	T	0.41534	0.1163	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28933	-1.0028	10	0.33940	T	0.23	.	9.5391	0.39240	0.4455:0.0:0.5545:0.0	.	152	Q86SS6	SYT9_HUMAN	I	120;152	ENSP00000379944:V120I;ENSP00000324419:V152I	ENSP00000324419:V152I	V	+	1	0	SYT9	7281154	0.000000	0.05858	0.552000	0.28243	0.149000	0.21700	-0.047000	0.11963	-0.345000	0.08325	-0.137000	0.14449	GTC	SYT9	-	NULL		0.612	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	G	NM_175733		7324578	1	no_errors	ENST00000318881	ensembl	human	known	70_37	missense	SNP	0.002	A	A	7324578	G	A	7324578	3	1	151	1	0	0	0	0	1	0	0	0	15511	1145	40	2	460	2	SYT9	11	7324578	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1059227	7324578	127681938	519	25152										
SCUBE2	57758	genome.wustl.edu	37	chr11	9072167	9072167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccatacctggtagtgctggtCgcagaccctcgggaaacagc	12	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:9072167C>T	ENST00000309263.3	-	13	1610	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R542Q|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R542Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	513						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGTGCTGGTCGCAGACCCTC	0.537																																																	0													128	114	118					11																	9072167		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1538G>A	11.37:g.9072167C>T	ENSP00000310658:p.Arg513Gln		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.R542Q	ENST00000309263.3	37	c.1625		11	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280124	0.40294	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;T;T	0.80566	-1.22;-1.31;-1.39	5.36	0.962	0.19643	.	0.467635	0.23275	N	0.049974	T	0.62816	0.2459	.	.	.	0.24909	N	0.992052	B;B	0.13145	0.001;0.007	B;B	0.06405	0.002;0.002	T	0.44757	-0.9307	9	0.24483	T	0.36	.	5.6446	0.17582	0.0:0.4533:0.1507:0.396	.	542;513	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	Q	542;513;542	ENSP00000390481:R542Q;ENSP00000310658:R513Q;ENSP00000429969:R542Q	ENSP00000310658:R513Q	R	-	2	0	SCUBE2	9028743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.797000	0.26999	0.254000	0.21573	0.650000	0.86243	CGA	SCUBE2	-	NULL		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9072167	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	0.957	T	T	9072167	C	T	9072167	3	4	151	1	0	0	0	0	1	0	0	0	13975	884	31	1	1501	1	SCUBE2	11	9072167	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1747589	9072167	125934349	520	25153										
DKK3	27122	genome.wustl.edu	37	chr11	11989992	11989992	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtactggaagctggcaaactGgcagtacatgctgggcccac	13	11	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:11989992G>A	ENST00000396505.2	-	5	716	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	DKK3_ENST00000525493.1_Nonsense_Mutation_p.Q160*|DKK3_ENST00000450094.2_Nonsense_Mutation_p.Q132*|DKK3_ENST00000326932.4_Nonsense_Mutation_p.Q160*|DKK3_ENST00000527132.1_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	160	DKK-type Cys-1.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CTGGCAAACTGGCAGTACATG	0.627																																																	0													88	75	80					11																	11989992		2201	4294	6495	SO:0001587	stop_gained	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.478C>T	11.37:g.11989992G>A	ENSP00000379762:p.Gln160*		A8K1I2|D3DQW1|Q9ULB7	Nonsense_Mutation	SNP	pfam_Dickkopf_N	p.Q160*	ENST00000396505.2	37	c.478	CCDS7808.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.512855	0.96402	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813;ENST00000534511;ENST00000529338	.	.	.	5.34	5.34	0.76211	.	0.279936	0.36893	N	0.002351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.4731	7.7736	0.29023	0.0855:0.1653:0.7492:0.0	.	.	.	.	X	160;160;103;160;132;4;160;132;132	.	ENSP00000314730:Q4X	Q	-	1	0	DKK3	11946568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.757000	0.47557	2.492000	0.84095	0.655000	0.94253	CAG	DKK3	-	pfam_Dickkopf_N		0.627	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	G	NM_013253		11989992	-1	no_errors	ENST00000326932	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	11989992	G	A	11989992	4	1	151	1	0	0	0	0	0	1	0	0	4556	1357	47	4	590	4	DKK3	11	11989992	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2917825	11989992	123016524	521	25154										
TEAD1	7003	genome.wustl.edu	37	chr11	12901304	12901304	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcacatggcggccatgtcctCagcccagatcgtctcggcca	11	16	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:12901304C>G	ENST00000526600.1	+	1	315	c.92C>G	c.(91-93)tCa>tGa	p.S31*	TEAD1_ENST00000334310.6_Nonsense_Mutation_p.S116*|TEAD1_ENST00000361985.2_Nonsense_Mutation_p.S127*|TEAD1_ENST00000361905.4_Nonsense_Mutation_p.S112*|TEAD1_ENST00000527575.1_Nonsense_Mutation_p.S127*|TEAD1_ENST00000527636.1_Nonsense_Mutation_p.S127*			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	127					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCCATGTCCTCAGCCCAGATC	0.577																																																	0													89	75	79					11																	12901304		2200	4294	6494	SO:0001587	stop_gained	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.92C>G	11.37:g.12901304C>G	ENSP00000435393:p.Ser31*		A4FUP2|E7EV65	Nonsense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS	p.S112*	ENST00000526600.1	37	c.335		11	.	.	.	.	.	.	.	.	.	.	C	41	8.594732	0.98877	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.2796	20.2233	0.98332	0.0:1.0:0.0:0.0	.	.	.	.	X	112;127;127;116;127;31	.	ENSP00000334754:S116X	S	+	2	0	TEAD1	12857880	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	TCA	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF		0.577	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	C	NM_021961		12901304	1	no_errors	ENST00000361905	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	12901304	C	G	12901304	4	3	151	1	0	0	0	0	0	1	0	0	15768	838	29	1	394	1	TEAD1	11	12901304	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	911312	12901304	122105212	522	25155										
CALCB	797	genome.wustl.edu	37	chr11	15098849	15098849	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagctccgctgcccagaagaGagcctgcaacactgccacct	9	17	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:15098849G>C	ENST00000533448.1	+	4	353	c.242G>C	c.(241-243)aGa>aCa	p.R81T	CALCB_ENST00000324229.6_Missense_Mutation_p.R81T|CALCB_ENST00000523376.1_Missense_Mutation_p.R92T			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	81					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GCCCAGAAGAGAGCCTGCAAC	0.542																																																	0													54	53	53					11																	15098849		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.242G>C	11.37:g.15098849G>C	ENSP00000433490:p.Arg81Thr		A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.R81T	ENST00000533448.1	37	c.242	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667123	0.88251	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.26373	1.74;1.74;1.74	4.87	4.87	0.63330	Calcitonin peptide-like (1);	0.116233	0.39834	N	0.001258	T	0.61464	0.2349	M	0.91140	3.18	0.41493	D	0.988238	D	0.89917	1.0	D	0.87578	0.998	T	0.72821	-0.4177	10	0.87932	D	0	-8.4969	18.3705	0.90405	0.0:0.0:1.0:0.0	.	81	P10092	CALCB_HUMAN	T	92;81;81	ENSP00000428882:R92T;ENSP00000346017:R81T;ENSP00000433490:R81T	ENSP00000346017:R81T	R	+	2	0	CALCB	15055425	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.406000	0.97321	2.390000	0.81377	0.462000	0.41574	AGA	CALCB	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep		0.542	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	G	NM_000728		15098849	1	no_errors	ENST00000324229	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15098849	G	C	15098849	3	2	151	1	0	0	0	0	1	0	0	0	2581	942	33	1	252	1	CALCB	11	15098849	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2197545	15098849	119907667	523	25156										
HPS5	11234	genome.wustl.edu	37	chr11	18309092	18309092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccttctcaccgctgatcttCaggccttgatttcaccagac	6	15	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:18309092C>T	ENST00000349215.3	-	18	2984	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	HPS5_ENST00000438420.2_Missense_Mutation_p.E789K|HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000396253.3_Missense_Mutation_p.E789K|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	903					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CGCTGATCTTCAGGCCTTGAT	0.413									Hermansky-Pudlak syndrome																																								0													85	83	84					11																	18309092		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2707G>A	11.37:g.18309092C>T	ENSP00000265967:p.Glu903Lys		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.E903K	ENST00000349215.3	37	c.2707	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019072	0.93462	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000544218	T;T;T	0.57907	0.37;0.37;0.38	4.95	4.95	0.65309	.	0.159280	0.56097	D	0.000032	T	0.68869	0.3048	M	0.63843	1.955	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.71155	-0.4675	10	0.59425	D	0.04	.	18.3641	0.90385	0.0:1.0:0.0:0.0	.	903	Q9UPZ3	HPS5_HUMAN	K	789;789;903;89	ENSP00000379552:E789K;ENSP00000399590:E789K;ENSP00000265967:E903K	ENSP00000265967:E903K	E	-	1	0	HPS5	18265668	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.325000	0.72901	2.574000	0.86865	0.563000	0.77884	GAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.413	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507		18309092	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18309092	C	T	18309092	3	4	151	1	0	0	0	0	1	0	0	0	7362	835	29	1	706	1	HPS5	11	18309092	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3210243	18309092	116697424	524	25157										
LGR4	55366	genome.wustl.edu	37	chr11	27395587	27395587	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatgtatcaggtttctactCagatctctgcaattataaga	6	8	5	2	rs149138714	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:27395587C>T	ENST00000379214.4	-	14	1631	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	LGR4_ENST00000389858.4_Silent_p.L372L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	396					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGTTTCTACTCAGATCTCTGC	0.343																																																	0													207	210	209					11																	27395587		2202	4298	6500	SO:0001819	synonymous_variant	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1188G>A	11.37:g.27395587C>T			A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.L396	ENST00000379214.4	37	c.1188	CCDS31449.1	11																																																																																			LGR4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.343	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	C	NM_018490		27395587	-1	no_errors	ENST00000379214	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27395587	C	T	27395587	2	4	151	1	0	0	0	0	0	0	0	1	8776	813	29	1		1	LGR4	11	27395587	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9086495	27395587	107610929	525	25158										
CSTF3	1479	genome.wustl.edu	37	chr11	33163446	33163446	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taaacctgtgcctctcgaatGagaatgctccaagcatcaag	8	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:33163446G>C	ENST00000323959.4	-	2	253	c.114C>G	c.(112-114)ctC>ctG	p.L38L	CSTF3_ENST00000438862.2_Silent_p.L38L|CSTF3_ENST00000431742.2_Silent_p.L38L|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_Silent_p.L70L	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	38					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CCTCTCGAATGAGAATGCTCC	0.398																																																	0													167	157	160					11																	33163446		2202	4298	6500	SO:0001819	synonymous_variant	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.114C>G	11.37:g.33163446G>C			A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Silent	SNP	pfam_Suf,smart_HAT	p.L38	ENST00000323959.4	37	c.114	CCDS7883.1	11																																																																																			CSTF3	-	NULL		0.398	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	G	NM_001326		33163446	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	silent	SNP	1.000	C	C	33163446	G	C	33163446	2	2	151	1	0	0	0	0	0	0	0	1	3991	1277	45	1		1	CSTF3	11	33163446	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5767859	33163446	101843070	526	25159										
NUP160	23279	genome.wustl.edu	37	chr11	47819353	47819353	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgcggtaattgtggcgataGatgtgaaaggcatacagaag	14	4	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:47819353G>C	ENST00000378460.2	-	27	3313	c.3267C>G	c.(3265-3267)atC>atG	p.I1089M	NUP160_ENST00000528071.1_Missense_Mutation_p.I975M|NUP160_ENST00000530326.1_Missense_Mutation_p.I975M	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1089					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGTGGCGATAGATGTGAAAGG	0.418																																																	0													155	134	141					11																	47819353		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3267C>G	11.37:g.47819353G>C	ENSP00000367721:p.Ile1089Met		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.I1089M	ENST00000378460.2	37	c.3267	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301635	0.40694	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.55052	1.17;0.54;0.54	5.89	2.6	0.31112	.	0.229665	0.43579	D	0.000555	T	0.27866	0.0686	N	0.20574	0.59	0.80722	D	1	B	0.28971	0.229	B	0.24155	0.051	T	0.05852	-1.0860	10	0.28530	T	0.3	.	1.5003	0.02475	0.2911:0.1394:0.4279:0.1417	.	1089	Q12769	NU160_HUMAN	M	1089;975;975	ENSP00000367721:I1089M;ENSP00000433590:I975M;ENSP00000432367:I975M	ENSP00000367721:I1089M	I	-	3	3	NUP160	47775929	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.219000	0.42899	0.322000	0.23283	0.655000	0.94253	ATC	NUP160	-	NULL		0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	G	NM_015231		47819353	-1	no_errors	ENST00000378460	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47819353	G	C	47819353	3	2	151	1	0	0	0	0	1	0	0	0	10781	932	33	1	1083	1	NUP160	11	47819353	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	14655907	47819353	87187163	527	25160										
OR4B1	119765	genome.wustl.edu	37	chr11	48238908	48238908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctgtgacctccagcctttaTtcaagcttgcctgcactgac	7	14	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:48238908T>C	ENST00000309562.2	+	1	565	c.547T>C	c.(547-549)Ttc>Ctc	p.F183L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCCTTTATTCAAGCTTGC	0.458																																																	0													156	146	149					11																	48238908		2201	4298	6499	SO:0001583	missense	119765			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.547T>C	11.37:g.48238908T>C	ENSP00000311605:p.Phe183Leu		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F183L	ENST00000309562.2	37	c.547	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.972945	0.02215	.	.	ENSG00000175619	ENST00000309562	T	0.00010	9.4	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00039	0.0001	N	0.00027	-2.655	0.29494	N	0.855428	B	0.19817	0.039	B	0.33690	0.168	T	0.28106	-1.0054	10	0.02654	T	1	.	8.2326	0.31608	0.0:0.0886:0.0:0.9114	.	183	Q8NGF8	OR4B1_HUMAN	L	183	ENSP00000311605:F183L	ENSP00000311605:F183L	F	+	1	0	OR4B1	48195484	0.000000	0.05858	0.996000	0.52242	0.298000	0.27526	-0.076000	0.11412	2.100000	0.63781	0.416000	0.27883	TTC	OR4B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	T	NM_001005470		48238908	1	no_errors	ENST00000309562	ensembl	human	known	70_37	missense	SNP	0.995	C	C	48238908	T	C	48238908	3	2	151	1	0	0	0	0	1	0	0	0	11068	1493	52	5	549	5	OR4B1	11	48238908	Missense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	419555	48238908	86767608	528	25161										
OR5I1	10798	genome.wustl.edu	37	chr11	55703784	55703784	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcatacaatgtcagaaacatGaggaacaggacaatctgcag	10	8	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:55703784G>C	ENST00000301532.3	-	1	92	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	31					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCAGAAACATGAGGAACAGGA	0.398																																																	0													65	63	64					11																	55703784		2200	4295	6495	SO:0001819	synonymous_variant	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.93C>G	11.37:g.55703784G>C			Q6IEU4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L31	ENST00000301532.3	37	c.93	CCDS7949.1	11																																																																																			OR5I1	-	prints_GPCR_Rhodpsn		0.398	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	G	NM_006637		55703784	-1	no_errors	ENST00000301532	ensembl	human	known	70_37	silent	SNP	0.000	C	C	55703784	G	C	55703784	2	2	151	1	0	0	0	0	0	0	0	1	11188	1277	45	1		1	OR5I1	11	55703784	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7464876	55703784	79302732	529	25162										
OR5R1	219479	genome.wustl.edu	37	chr11	56185669	56185669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccggttggtaattcctttcaGaatgaatacagtgacataaa	8	7	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:56185669G>C	ENST00000312253.1	-	1	39	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATTCCTTTCAGAATGAATACA	0.393																																																	0													85	95	92					11																	56185669		2201	4295	6496	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.40C>G	11.37:g.56185669G>C	ENSP00000308595:p.Leu14Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14V	ENST00000312253.1	37	c.40	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582563	0.46006	.	.	ENSG00000174942	ENST00000312253	T	0.00563	6.58	5.6	4.68	0.58851	.	0.000000	0.29940	U	0.010803	T	0.03520	0.0101	H	0.95816	3.725	0.23834	N	0.996711	D	0.76494	0.999	D	0.87578	0.998	T	0.08785	-1.0705	10	0.87932	D	0	-16.6551	11.8412	0.52355	0.1405:0.0:0.8595:0.0	.	14	Q8NH85	OR5R1_HUMAN	V	14	ENSP00000308595:L14V	ENSP00000308595:L14V	L	-	1	2	OR5R1	55942245	0.964000	0.33143	0.959000	0.39883	0.262000	0.26303	1.666000	0.37460	2.649000	0.89929	0.297000	0.19635	CTG	OR5R1	-	NULL		0.393	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	G	NM_001004744		56185669	-1	no_errors	ENST00000312253	ensembl	human	known	70_37	missense	SNP	0.969	C	C	56185669	G	C	56185669	3	2	151	1	0	0	0	0	1	0	0	0	11204	933	33	1	936	1	OR5R1	11	56185669	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	481885	56185669	78820847	530	25163										
SLC43A3	29015	genome.wustl.edu	37	chr11	57175269	57175269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtgagggcttctgaactatGcaattgcagagggactttct	12	7	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:57175269G>C	ENST00000395123.2	-	14	1776	c.1472C>G	c.(1471-1473)gCa>gGa	p.A491G	SLC43A3_ENST00000529554.1_Missense_Mutation_p.A491G|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A491G|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A504G|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A491G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	491					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCTGAACTATGCAATTGCAGA	0.478																																																	0													104	89	94					11																	57175269		2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1472C>G	11.37:g.57175269G>C	ENSP00000378555:p.Ala491Gly		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A491G	ENST00000395123.2	37	c.1472	CCDS7956.1	11	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465730	0.43839	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.33438	1.42;1.42;1.42;1.42;1.41	4.24	-1.26	0.09376	.	1.257740	0.05798	N	0.611608	T	0.25158	0.0611	L	0.54323	1.7	0.09310	N	1	B;B	0.29432	0.244;0.244	B;B	0.24006	0.05;0.05	T	0.31364	-0.9946	10	0.54805	T	0.06	.	3.388	0.07278	0.4539:0.0:0.3607:0.1854	.	504;491	E7EQD2;Q8NBI5	.;S43A3_HUMAN	G	491;491;491;491;504	ENSP00000378555:A491G;ENSP00000378556:A491G;ENSP00000337561:A491G;ENSP00000436254:A491G;ENSP00000434515:A504G	ENSP00000337561:A491G	A	-	2	0	SLC43A3	56931845	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-0.129000	0.11620	-0.140000	0.14226	GCA	SLC43A3	-	NULL		0.478	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC43A3	HGNC	protein_coding	OTTHUMT00000393057.1	G	NM_017611		57175269	-1	no_errors	ENST00000352187	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57175269	G	C	57175269	3	2	151	1	0	0	0	0	1	0	0	0	14664	1319	46	4	7	4	SLC43A3	11	57175269	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	989600	57175269	77831247	531	25164										
FAM111B	374393	genome.wustl.edu	37	chr11	58891745	58891745	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcacctttaagcttaaaagtGaagtcaacaagcatgaaaca	7	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:58891745G>A	ENST00000343597.3	+	4	366	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	FAM111B_ENST00000529618.1_Missense_Mutation_p.E29K|FAM111B_ENST00000411426.1_Missense_Mutation_p.E29K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	59							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GCTTAAAAGTGAAGTCAACAA	0.368																																																	0													123	113	116					11																	58891745		2201	4295	6496	SO:0001583	missense	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.175G>A	11.37:g.58891745G>A	ENSP00000341565:p.Glu59Lys		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Pept_cys/ser_Trypsin-like	p.E59K	ENST00000343597.3	37	c.175	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662763	0.47572	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000534403;ENST00000343597	T;T;T	0.44482	0.96;0.96;0.92	3.31	1.39	0.22231	.	.	.	.	.	T	0.30759	0.0775	L	0.57536	1.79	0.09310	N	1	B	0.33266	0.404	B	0.24848	0.056	T	0.14924	-1.0455	9	0.21540	T	0.41	.	5.5614	0.17146	0.2662:0.0:0.7338:0.0	.	59	Q6SJ93	F111B_HUMAN	K	29;29;29;59	ENSP00000393855:E29K;ENSP00000432875:E29K;ENSP00000341565:E59K	ENSP00000341565:E59K	E	+	1	0	FAM111B	58648321	0.088000	0.21588	0.004000	0.12327	0.077000	0.17291	1.951000	0.40333	0.241000	0.21283	-0.150000	0.13652	GAA	FAM111B	-	NULL		0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	G	NM_198947		58891745	1	no_errors	ENST00000343597	ensembl	human	known	70_37	missense	SNP	0.002	A	A	58891745	G	A	58891745	3	1	151	1	0	0	0	0	1	0	0	0	5415	1291	45	1	181	1	FAM111B	11	58891745	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1716476	58891745	76114771	532	25165										
FADS1	3992	genome.wustl.edu	37	chr11	61570319	61570319	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggggcttggactggtactCtatgccatgcttggcacaca	12	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:61570319C>G	ENST00000350997.7	-	11	1640	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Missense_Mutation_p.E161Q|FADS1_ENST00000542506.1_Missense_Mutation_p.E329Q|FADS1_ENST00000433932.1_Missense_Mutation_p.E329Q|FADS1_ENST00000460649.1_Missense_Mutation_p.E115Q	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	413					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GACTGGTACTCTATGCCATGC	0.552																																																	0													102	101	101					11																	61570319		2105	4231	6336	SO:0001583	missense	3992				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1408G>C	11.37:g.61570319C>G	ENSP00000322229:p.Glu470Gln		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5	p.E470Q	ENST00000350997.7	37	c.1408	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421054	0.25639	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	4.88	-0.663	0.11410	Fatty acid desaturase, type 1 (1);	0.929306	0.08864	U	0.882560	T	0.10594	0.0259	N	0.17674	0.51	0.23282	N	0.997981	B	0.18013	0.025	B	0.24269	0.052	T	0.41858	-0.9485	10	0.25751	T	0.34	-40.2014	7.9471	0.29993	0.0:0.4863:0.3699:0.1437	.	413	O60427	FADS1_HUMAN	Q	345;470;329;161;329;115;329	ENSP00000322229:E470Q;ENSP00000439097:E161Q;ENSP00000405087:E329Q;ENSP00000445253:E115Q;ENSP00000441403:E329Q	ENSP00000322229:E470Q	E	-	1	0	FADS1	61326895	0.000000	0.05858	0.581000	0.28614	0.999000	0.98932	-0.266000	0.08631	-0.310000	0.08766	0.655000	0.94253	GAG	FADS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase		0.552	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	HGNC	protein_coding	OTTHUMT00000347648.2	C	NM_013402		61570319	-1	no_errors	ENST00000350997	ensembl	human	known	70_37	missense	SNP	0.720	G	G	61570319	C	G	61570319	3	3	151	1	0	0	0	0	1	0	0	0	5380	922	32	1	105	1	FADS1	11	61570319	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2678574	61570319	73436197	533	25166										
SLC22A24	283238	genome.wustl.edu	37	chr11	62871649	62871649	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcccctttccagatcacctCagtggtcagtgtctcttcag	7	14	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:62871649C>T	ENST00000417740.1	-	5	1393	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAGATCACCTCAGTGGTCAGT	0.403																																																	0													243	209	220					11																	62871649		692	1591	2283	SO:0001583	missense	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.952G>A	11.37:g.62871649C>T	ENSP00000396586:p.Glu318Lys			Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E318K	ENST00000417740.1	37	c.952		11	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867787	0.72065	.	.	ENSG00000197658	ENST00000417740;ENST00000531535	T	0.76578	-1.03	3.41	2.3	0.28687	.	.	.	.	.	D	0.85057	0.5610	M	0.83852	2.665	0.25949	N	0.982778	D	0.65815	0.995	D	0.63283	0.913	T	0.73209	-0.4055	9	0.49607	T	0.09	.	6.7769	0.23624	0.0:0.8444:0.0:0.1556	.	318	C9JC66	.	K	318	ENSP00000396586:E318K	ENSP00000396586:E318K	E	-	1	0	SLC22A24	62628225	0.061000	0.20836	0.085000	0.20634	0.724000	0.41520	0.721000	0.25911	0.605000	0.29947	0.530000	0.56133	GAG	SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.403	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871649	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	missense	SNP	0.417	T	T	62871649	C	T	62871649	3	4	151	1	0	0	0	0	1	0	0	0	14483	835	29	1	725	1	SLC22A24	11	62871649	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1301330	62871649	72134867	534	25167										
SLC22A24	283238	genome.wustl.edu	37	chr11	62871743	62871743	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctagctgattgttgataatCagccaccgagcagactccac	8	12	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:62871743C>T	ENST00000417740.1	-	5	1299	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGTTGATAATCAGCCACCGAG	0.388																																																	0													224	188	199					11																	62871743		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.858G>A	11.37:g.62871743C>T				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L286	ENST00000417740.1	37	c.858		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871743	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	silent	SNP	0.913	T	T	62871743	C	T	62871743	2	4	151	1	0	0	0	0	0	0	0	1	14483	813	29	1		1	SLC22A24	11	62871743	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	94	62871743	72134773	535	25168										
FERMT3	83706	genome.wustl.edu	37	chr11	63986825	63986825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agatgatggtgtttgccgccCtgcaggtaccaggcgggcct	15	11	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:63986825C>T	ENST00000279227.5	+	7	984	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	FERMT3_ENST00000345728.5_Silent_p.L297L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	297	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTTTGCCGCCCTGCAGGTACC	0.667																																																	0													29	28	28					11																	63986825		2199	4294	6493	SO:0001819	synonymous_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.889C>T	11.37:g.63986825C>T			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L297	ENST00000279227.5	37	c.889	CCDS8060.1	11																																																																																			FERMT3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	C	NM_031471		63986825	1	no_errors	ENST00000279227	ensembl	human	known	70_37	silent	SNP	1.000	T	T	63986825	C	T	63986825	2	4	151	1	0	0	0	0	0	0	0	1	5837	680	24	4		4	FERMT3	11	63986825	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1115082	63986825	71019691	536	25169										
CCDC88B	283234	genome.wustl.edu	37	chr11	64119016	64119016	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacctggaggggcagctgggGagcctgcagggccgtgccca	18	13	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64119016G>C	ENST00000356786.5	+	18	3071	c.3027G>C	c.(3025-3027)ggG>ggC	p.G1009G	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.G161G	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1009						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCAGCTGGGGAGCCTGCAGG	0.687																																																	0													8	9	9					11																	64119016		2170	4261	6431	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3027G>C	11.37:g.64119016G>C			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.G1009	ENST00000356786.5	37	c.3027	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.687	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64119016	1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	0.723	C	C	64119016	G	C	64119016	2	2	151	1	0	0	0	0	0	0	0	1	2869	1161	41	1		1	CCDC88B	11	64119016	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	132191	64119016	70887500	537	25170										
SF1	7536	genome.wustl.edu	37	chr11	64536711	64536711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atacctgttatcgtcttcccGaagggtcccatttaagcgag	9	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64536711G>A	ENST00000377390.3	-	7	1100	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	SF1_ENST00000227503.9_Missense_Mutation_p.R255W|SF1_ENST00000433274.2_Missense_Mutation_p.R229W|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.R255W|SF1_ENST00000377387.1_Missense_Mutation_p.R380W|SF1_ENST00000422298.2_Missense_Mutation_p.R140W|SF1_ENST00000377394.3_Missense_Mutation_p.R255W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	255					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R255W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCGTCTTCCCGAAGGGTCCCA	0.463																																																	1	Substitution - Missense(1)	skin(1)											93	90	91					11																	64536711		2201	4297	6498	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.763C>T	11.37:g.64536711G>A	ENSP00000366607:p.Arg255Trp		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R255W	ENST00000377390.3	37	c.763	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385642	0.82792	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.61158	0.13;0.17;0.2;0.32;0.17;0.21;0.19	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.997;0.996;0.995;0.998;0.998	T	0.82981	-0.0187	10	0.87932	D	0	.	14.232	0.65898	0.0:0.0:0.8496:0.1504	.	140;255;255;255;255;380	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	W	380;255;255;255;255;140;229	ENSP00000366604:R380W;ENSP00000366607:R255W;ENSP00000227503:R255W;ENSP00000366611:R255W;ENSP00000334414:R255W;ENSP00000413084:R140W;ENSP00000396793:R229W	ENSP00000227503:R255W	R	-	1	2	SF1	64293287	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.996000	0.57009	1.481000	0.48307	0.557000	0.71058	CGG	SF1	-	NULL		0.463	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	G	NM_004630		64536711	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	missense	SNP	0.989	A	A	64536711	G	A	64536711	3	1	151	1	0	0	0	0	1	0	0	0	14175	1057	37	1	1322	1	SF1	11	64536711	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	417695	64536711	70469805	538	25171										
MAP4K2	5871	genome.wustl.edu	37	chr11	64567650	64567650	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctttgtccagcagctgtgtGaggagggcccgagggagctg	18	9	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64567650G>A	ENST00000294066.2	-	12	937	c.846C>T	c.(844-846)ctC>ctT	p.L282L	MAP4K2_ENST00000377350.3_Silent_p.L282L|MAP4K2_ENST00000468062.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	282					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCAGCTGTGTGAGGAGGGCCC	0.627																																																	0													29	33	31					11																	64567650		2201	4297	6498	SO:0001819	synonymous_variant	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.846C>T	11.37:g.64567650G>A			Q86VU3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L282	ENST00000294066.2	37	c.846	CCDS8082.1	11																																																																																			MAP4K2	-	superfamily_Kinase-like_dom		0.627	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	G	NM_004579		64567650	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	silent	SNP	0.996	A	A	64567650	G	A	64567650	2	1	151	1	0	0	0	0	0	0	0	1	9283	1277	45	1		1	MAP4K2	11	64567650	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	30939	64567650	70438866	539	25172										
NAALADL1	10004	genome.wustl.edu	37	chr11	64812806	64812806	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agggctgtcaccacaatgctGagctgtctctggacctcagc	11	13	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64812806G>C	ENST00000358658.3	-	18	2187	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	NAALADL1_ENST00000355721.3_Silent_p.L679L|NAALADL1_ENST00000356632.3_Silent_p.L685L|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000340252.4_Silent_p.L771L|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000526799.1_Silent_p.L67L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	720						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCACAATGCTGAGCTGTCTCT	0.617																																																	0													34	32	33					11																	64812806		2200	4296	6496	SO:0001819	synonymous_variant	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.2160C>G	11.37:g.64812806G>C			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.L720	ENST00000358658.3	37	c.2160	CCDS31604.1	11																																																																																			NAALADL1	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.617	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	G	NM_005468		64812806	-1	no_errors	ENST00000358658	ensembl	human	known	70_37	silent	SNP	1.000	C	C	64812806	G	C	64812806	2	2	151	1	0	0	0	0	0	0	0	1	10152	1277	45	1		1	NAALADL1	11	64812806	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	245156	64812806	70193710	540	25173										
CAPN1	823	genome.wustl.edu	37	chr11	64950385	64950385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccccagagcctgggttacaaGgacctgggtcccaattcctc	10	15	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64950385G>A	ENST00000527323.1	+	1	453	c.213G>A	c.(211-213)aaG>aaA	p.K71K	CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533820.1_Silent_p.K71K|CAPN1_ENST00000279247.6_Silent_p.K71K|CAPN1_ENST00000524773.1_Silent_p.K71K|CAPN1_ENST00000533129.1_Silent_p.K71K|AP003068.23_ENST00000526623.1_5'Flank			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	71	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGGTTACAAGGACCTGGGTC	0.622																																																	0													38	44	42					11																	64950385		2016	4175	6191	SO:0001819	synonymous_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.213G>A	11.37:g.64950385G>A			Q2TTR0|Q6DHV4	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.K71	ENST00000527323.1	37	c.213	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	8.891	0.953941	0.18431	.	.	ENSG00000014216	ENST00000259755	.	.	.	5.13	4.22	0.49857	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	5	0.31617	T	0.26	.	11.2186	0.48842	0.0896:0.0:0.9104:0.0	.	.	.	.	K	41	.	ENSP00000259755:R41K	R	+	2	0	CAPN1	64706961	0.810000	0.29049	0.998000	0.56505	0.760000	0.43138	-0.250000	0.08830	1.169000	0.42739	0.561000	0.74099	AGG	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.622	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64950385	1	no_errors	ENST00000279247	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64950385	G	A	64950385	2	1	151	1	0	0	0	0	0	0	0	1	2627	991	35	4		4	CAPN1	11	64950385	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	137579	64950385	70056131	541	25174										
SIPA1	6494	genome.wustl.edu	37	chr11	65409788	65409788	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgagcctgcggcgggaggaGaaggagggcagcggaggggg	25	6	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65409788G>A	ENST00000394224.3	+	3	1043	c.747G>A	c.(745-747)gaG>gaA	p.E249E	SIPA1_ENST00000534313.1_Silent_p.E249E|SIPA1_ENST00000527525.1_Silent_p.E249E|SIPA1_ENST00000394227.3_Silent_p.E249E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	249					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGCGGGAGGAGAAGGAGGGCA	0.677																																																	0													18	21	20					11																	65409788		2159	4259	6418	SO:0001819	synonymous_variant	6494			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.747G>A	11.37:g.65409788G>A			O14518|O60484|O60618|Q2YD83	Silent	SNP	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E249	ENST00000394224.3	37	c.747	CCDS8108.1	11																																																																																			SIPA1	-	NULL		0.677	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	G	NM_006747		65409788	1	no_errors	ENST00000394224	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65409788	G	A	65409788	2	1	151	1	0	0	0	0	0	0	0	1	14358	933	33	1		1	SIPA1	11	65409788	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	459403	65409788	69596728	542	25175										
CST6	1474	genome.wustl.edu	37	chr11	65780823	65780823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttgaggtccttgtggttccCtggcagaactcctctcagct	10	12	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65780823C>T	ENST00000312134.2	+	3	606	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	134					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TTGTGGTTCCCTGGCAGAACT	0.587																																																	0													201	156	172					11																	65780823		2201	4296	6497	SO:0001819	synonymous_variant	1474			U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.402C>T	11.37:g.65780823C>T			Q540N7	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.P134	ENST00000312134.2	37	c.402	CCDS8126.1	11																																																																																			CST6	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.587	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST6	HGNC	protein_coding	OTTHUMT00000391348.1	C	NM_001323		65780823	1	no_errors	ENST00000312134	ensembl	human	known	70_37	silent	SNP	0.998	T	T	65780823	C	T	65780823	2	4	151	1	0	0	0	0	0	0	0	1	3981	668	24	4		4	CST6	11	65780823	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	371035	65780823	69225693	543	25176										
PACS1	55690	genome.wustl.edu	37	chr11	65984233	65984233	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggaaactaacctcaacctCtgccatcacaagggtgagcc	9	13	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65984233C>T	ENST00000320580.4	+	7	998	c.965C>T	c.(964-966)tCt>tTt	p.S322F		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	322					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ACCTCAACCTCTGCCATCACA	0.522																																																	0													54	53	53					11																	65984233		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.965C>T	11.37:g.65984233C>T	ENSP00000316454:p.Ser322Phe		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S322F	ENST00000320580.4	37	c.965	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143741	0.77888	.	.	ENSG00000175115	ENST00000320580	T	0.17691	2.26	4.9	4.9	0.64082	.	0.251366	0.41097	D	0.000945	T	0.25975	0.0633	N	0.19112	0.55	0.80722	D	1	P;D	0.64830	0.94;0.994	P;P	0.62298	0.641;0.9	T	0.04229	-1.0967	10	0.62326	D	0.03	-11.6397	17.0115	0.86407	0.0:1.0:0.0:0.0	.	322;322	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	F	322	ENSP00000316454:S322F	ENSP00000316454:S322F	S	+	2	0	PACS1	65740809	0.204000	0.23447	0.980000	0.43619	0.953000	0.61014	3.333000	0.52090	2.553000	0.86117	0.491000	0.48974	TCT	PACS1	-	NULL		0.522	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	C	NM_018026		65984233	1	no_errors	ENST00000320580	ensembl	human	known	70_37	missense	SNP	0.993	T	T	65984233	C	T	65984233	3	4	151	1	0	0	0	0	1	0	0	0	11396	913	32	1	991	1	PACS1	11	65984233	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	203410	65984233	69022283	544	25177										
RAB1B	81876	genome.wustl.edu	37	chr11	66039341	66039341	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcctgctcctgcggtttgctGtgagtaagaagcctcccata	11	12	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66039341G>A	ENST00000311481.6	+	2	234		c.e2+1		RAB1B_ENST00000527397.1_Splice_Site|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						GCGGTTTGCTGTGAGTAAGAA	0.552																																																	0													106	93	97					11																	66039341		2200	4295	6495	SO:0001630	splice_region_variant	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.87+1G>A	11.37:g.66039341G>A			A8K7S1	Splice_Site	SNP	-	e2+1	ENST00000311481.6	37	c.87+1	CCDS31613.1	11	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353332	0.82132	.	.	ENSG00000174903	ENST00000311481;ENST00000527397;ENST00000314965;ENST00000394080	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0787	0.64907	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB1B	65795917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.194000	0.70268	0.555000	0.69702	.	RAB1B	-	-		0.552	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1B	HGNC	protein_coding	OTTHUMT00000391886.2	G	NM_030981	Intron	66039341	1	no_errors	ENST00000311481	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	66039341	G	A	66039341	5	1	151	1	0	0	0	0	0	0	1	0	12936	1391	48	4	94	4	RAB1B	11	66039341	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	55108	66039341	68967175	545	25178										
RAB1B	81876	genome.wustl.edu	37	chr11	66039887	66039887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccatcacttccagctactacCggggggctcatggcatcatc	9	15	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66039887C>T	ENST00000311481.6	+	4	382	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCA	0.582																																																	0													108	77	87					11																	66039887		2200	4295	6495	SO:0001583	missense	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.235C>T	11.37:g.66039887C>T	ENSP00000310226:p.Arg79Trp		A8K7S1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R79W	ENST00000311481.6	37	c.235	CCDS31613.1	11	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820764	0.71028	.	.	ENSG00000174903	ENST00000311481;ENST00000314965;ENST00000394080	D	0.82526	-1.62	3.99	3.99	0.46301	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.92753	0.7696	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93326	0.6697	10	0.87932	D	0	.	8.942	0.35736	0.2217:0.7783:0.0:0.0	.	79	Q9H0U4	RAB1B_HUMAN	W	79	ENSP00000310226:R79W	ENSP00000310226:R79W	R	+	1	2	RAB1B	65796463	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.809000	0.27168	2.067000	0.61834	0.561000	0.74099	CGG	RAB1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.582	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1B	HGNC	protein_coding	OTTHUMT00000391886.2	C	NM_030981		66039887	1	no_errors	ENST00000311481	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66039887	C	T	66039887	3	4	151	1	0	0	0	0	1	0	0	0	12936	643	23	2	249	2	RAB1B	11	66039887	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	546	66039887	68966629	546	25179										
RBM14	10432	genome.wustl.edu	37	chr11	66384308	66384308	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcatgaaacagttcgccttCgtgcacatgcgcgagaacgc	11	12	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66384308C>T	ENST00000310137.4	+	1	256	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000443702.1_Silent_p.F39F|RBM14_ENST00000409738.4_Silent_p.F39F|RBM14_ENST00000393979.3_Silent_p.F39F|RBM14-RBM4_ENST00000500635.2_Silent_p.F39F|RBM14_ENST00000409372.1_Silent_p.F39F|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.F39F|RBM4_ENST00000514361.3_Silent_p.F39F	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	39	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTTCGCCTTCGTGCACATGC	0.701																																																	0													30	32	31					11																	66384308		2200	4293	6493	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.117C>T	11.37:g.66384308C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F39	ENST00000310137.4	37	c.117	CCDS8147.1	11																																																																																			RBM14	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.701	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66384308	1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66384308	C	T	66384308	2	4	151	1	0	0	0	0	0	0	0	1	13145	883	31	1		1	RBM14	11	66384308	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	344421	66384308	68622208	547	25180										
RBM14	10432	genome.wustl.edu	37	chr11	66384488	66384488	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggaactgcgcagcctcttCgagcgccgcggacgcgtcat	13	15	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66384488C>T	ENST00000310137.4	+	1	436	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000443702.1_Silent_p.F99F|RBM14_ENST00000409738.4_Silent_p.F99F|RBM14_ENST00000393979.3_Silent_p.F99F|RBM14-RBM4_ENST00000500635.2_Silent_p.F99F|RBM14_ENST00000409372.1_Silent_p.F99F|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.F99F|RBM4_ENST00000514361.3_Silent_p.F99F	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	99	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCTCTTCGAGCGCCGCG	0.642																																																	0													51	60	57					11																	66384488		2140	4179	6319	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.297C>T	11.37:g.66384488C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F99	ENST00000310137.4	37	c.297	CCDS8147.1	11																																																																																			RBM14	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.642	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66384488	1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66384488	C	T	66384488	2	4	151	1	0	0	0	0	0	0	0	1	13145	883	31	1		1	RBM14	11	66384488	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	180	66384488	68622028	548	25181										
SPTBN2	6712	genome.wustl.edu	37	chr11	66475127	66475127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgtgccacgttgtgctgccGagcggcgatgcgcttgatgt	15	12	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66475127G>A	ENST00000533211.1	-	13	1844	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R505W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R505W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	505					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGTGCTGCCGAGCGGCGATG	0.687																																																	0													39	42	41					11																	66475127		2199	4293	6492	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1513C>T	11.37:g.66475127G>A	ENSP00000432568:p.Arg505Trp		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R505W	ENST00000533211.1	37	c.1513	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939175	0.73557	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.56444	0.46;0.46;0.46	4.47	4.47	0.54385	.	0.070980	0.56097	D	0.000026	T	0.79793	0.4507	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85486	0.1182	10	0.56958	D	0.05	.	16.0833	0.81020	0.0:0.0:1.0:0.0	.	505	O15020	SPTN2_HUMAN	W	505	ENSP00000432568:R505W;ENSP00000311489:R505W;ENSP00000433593:R505W	ENSP00000311489:R505W	R	-	1	2	SPTBN2	66231703	0.505000	0.26131	0.955000	0.39395	0.499000	0.33736	0.727000	0.25999	2.315000	0.78130	0.462000	0.41574	CGG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.687	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66475127	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	0.997	A	A	66475127	G	A	66475127	3	1	151	1	0	0	0	0	1	0	0	0	15150	1057	37	1	5763	1	SPTBN2	11	66475127	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	90639	66475127	68531389	549	25182										
AIP	9049	genome.wustl.edu	37	chr11	67256905	67256905	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagaacccccagcccctcatCttccacatggagatgctgaa	7	16	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:67256905C>G	ENST00000279146.3	+	3	565	c.447C>G	c.(445-447)atC>atG	p.I149M		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	149					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AGCCCCTCATCTTCCACATGG	0.682									Familial Isolated Pituitary Adenoma																																								0													39	42	41					11																	67256905		2200	4293	6493	SO:0001583	missense	9049	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"aryl hydrocarbon receptor-interacting protein"			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.447C>G	11.37:g.67256905C>G	ENSP00000279146:p.Ile149Met		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.I149M	ENST00000279146.3	37	c.447	CCDS8168.1	11	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842476	0.51057	.	.	ENSG00000110711	ENST00000279146;ENST00000529797	D;D	0.92149	-2.98;-2.98	5.54	4.63	0.57726	.	0.289012	0.37761	N	0.001941	D	0.90978	0.7163	M	0.67397	2.05	0.43347	D	0.995407	B	0.25719	0.132	B	0.36289	0.221	D	0.87189	0.2233	10	0.33141	T	0.24	-9.0528	9.4774	0.38880	0.0:0.837:0.0:0.163	.	149	O00170	AIP_HUMAN	M	149	ENSP00000279146:I149M;ENSP00000434580:I149M	ENSP00000279146:I149M	I	+	3	3	AIP	67013481	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	1.297000	0.33400	1.341000	0.45600	0.561000	0.74099	ATC	AIP	-	NULL		0.682	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIP	HGNC	protein_coding	OTTHUMT00000395516.1	C			67256905	1	no_errors	ENST00000279146	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67256905	C	G	67256905	3	3	151	1	0	0	0	0	1	0	0	0	435	903	32	1	457	1	AIP	11	67256905	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	781778	67256905	67749611	550	25183										
FGF3	2248	genome.wustl.edu	37	chr11	69631089	69631089	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtgacagcctggactcaccGaagcatagagtcgtcccctc	10	15	1	2	rs143593259	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:69631089G>A	ENST00000334134.2	-	2	413	c.323C>T	c.(322-324)tCg>tTg	p.S108L		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	108					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TGGACTCACCGAAGCATAGAG	0.602													G|||	2	0.000399361	0.0015	0	5008	,	,		16772	0		0	False		,,,				2504	0																0								G	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	148	121	130		323	4.8	1	11	dbSNP_134	130	0,8588		0,0,4294	no	missense-near-splice	FGF3	NM_005247.2	145	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	108/240	69631089	1,12987	2200	4294	6494	SO:0001630	splice_region_variant	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.324+1C>T	11.37:g.69631089G>A			Q0VG69	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.S108L	ENST00000334134.2	37	c.323	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.387734	0.95988	2.27E-4	0.0	ENSG00000186895	ENST00000334134	D	0.83419	-1.72	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90409	0.4408	9	.	.	.	.	17.9426	0.89030	0.0:0.0:1.0:0.0	.	108	P11487	FGF3_HUMAN	L	108	ENSP00000334122:S108L	.	S	-	2	0	FGF3	69340026	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.263000	0.95617	2.231000	0.72958	0.555000	0.69702	TCG	FGF3	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF		0.602	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	G	NM_005247	Missense_Mutation	69631089	-1	no_errors	ENST00000334134	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69631089	G	A	69631089	5	1	151	1	0	0	0	0	0	0	1	0	5871	1072	37	1	404	1	FGF3	11	69631089	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2374184	69631089	65375427	551	25184										
ANO1	55107	genome.wustl.edu	37	chr11	70028709	70028709	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcttcgtcaaccacaccctCtcctccttcaacgtcagtga	6	17	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:70028709C>G	ENST00000355303.5	+	24	2810	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	ANO1_ENST00000538023.1_Silent_p.L835L|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Silent_p.L689L|ANO1_ENST00000530676.1_Silent_p.L689L|ANO1_ENST00000531349.1_Silent_p.L544L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	835					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACCACACCCTCTCCTCCTTCA	0.582																																																	0													108	114	112					11																	70028709		2052	4198	6250	SO:0001819	synonymous_variant	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2505C>G	11.37:g.70028709C>G			A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	pfam_Anoctamin	p.L835	ENST00000355303.5	37	c.2505	CCDS44663.1	11																																																																																			ANO1	-	pfam_Anoctamin		0.582	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	C	NM_018043		70028709	1	no_errors	ENST00000355303	ensembl	human	known	70_37	silent	SNP	0.962	G	G	70028709	C	G	70028709	2	3	151	1	0	0	0	0	0	0	0	1	695	900	32	1		1	ANO1	11	70028709	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	397620	70028709	64977807	552	25185										
LRTOMT	25906	genome.wustl.edu	37	chr11	71819761	71819761	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caccggccacgatgttacctGagggacctgcagctgctgga	13	13	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:71819761G>A	ENST00000227618.4	-	0	886				LRTOMT_ENST00000419228.1_Silent_p.L182L|LRTOMT_ENST00000439209.1_3'UTR|ANAPC15_ENST00000502597.2_Intron|LRTOMT_ENST00000307198.7_Silent_p.L222L|ANAPC15_ENST00000543050.1_Intron|ANAPC15_ENST00000543015.1_5'Flank|LRTOMT_ENST00000435085.1_Silent_p.L222L	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											GATGTTACCTGAGGGACCTGC	0.642																																																	0													53	51	51					11																	71819761		692	1591	2283	SO:0001628	intergenic_variant	220074			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865		11.37:g.71819761G>A			G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	pfam_O-MeTrfase_3	p.L222	ENST00000227618.4	37	c.666	CCDS8210.1	11																																																																																			LRTOMT	-	pfam_O-MeTrfase_3		0.642	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000396695.1	G	NM_014042		71819761	1	no_errors	ENST00000307198	ensembl	human	known	70_37	silent	SNP	0.990	A	A	71819761	G	A	71819761	1	1	151	0	1	0	0	0	0	0	0	0	9069	1277	45	1		1	LRTOMT	11	71819761	IGR	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1791052	71819761	63186755	553	25186										
C2CD3	26005	genome.wustl.edu	37	chr11	73748734	73748734	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgaatctgatcaagctcactCagattcttcctataaacaaa	4	10	5	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:73748734C>T	ENST00000334126.7	-	30	5896	c.5670G>A	c.(5668-5670)ctG>ctA	p.L1890L	C2CD3_ENST00000313663.7_Silent_p.L1890L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1890					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAAGCTCACTCAGATTCTTCC	0.493																																																	0													46	44	45					11																	73748734		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5670G>A	11.37:g.73748734C>T			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L1890	ENST00000334126.7	37	c.5670		11																																																																																			C2CD3	-	NULL		0.493	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73748734	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	silent	SNP	1.000	T	T	73748734	C	T	73748734	2	4	151	1	0	0	0	0	0	0	0	1	2159	813	29	1		1	C2CD3	11	73748734	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1928973	73748734	61257782	554	25187										
XRRA1	143570	genome.wustl.edu	37	chr11	74651876	74651876	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctggctgggaagcagttgttCaggtaaggcttcccatcatc	12	10	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:74651876C>G	ENST00000340360.6	-	3	379	c.48G>C	c.(46-48)ctG>ctC	p.L16L	XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Silent_p.L16L	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGCAGTTGTTCAGGTAAGGCT	0.507																																																	0													58	59	58					11																	74651876		2168	4282	6450	SO:0001819	synonymous_variant	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.48G>C	11.37:g.74651876C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L16	ENST00000340360.6	37	c.48	CCDS44680.1	11																																																																																			XRRA1	-	NULL		0.507	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	C	NM_182969		74651876	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	silent	SNP	0.935	G	G	74651876	C	G	74651876	2	3	151	1	0	0	0	0	0	0	0	1	17492	813	29	1		1	XRRA1	11	74651876	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	903142	74651876	60354640	555	25188										
ARRB1	408	genome.wustl.edu	37	chr11	74994373	74994373	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgctcgcccagcttcttgatGaggcgttcctgcagccgcgt	12	14	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:74994373G>C	ENST00000420843.2	-	5	409	c.312C>G	c.(310-312)ctC>ctG	p.L104L	ARRB1_ENST00000393505.4_Silent_p.L104L|ARRB1_ENST00000360025.3_Silent_p.L104L	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	104	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCTTCTTGATGAGGCGTTCCT	0.607																																																	0													65	63	64					11																	74994373		2200	4293	6493	SO:0001819	synonymous_variant	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.312C>G	11.37:g.74994373G>C			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.L104	ENST00000420843.2	37	c.312	CCDS44684.1	11																																																																																			ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.607	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	G	NM_004041		74994373	-1	no_errors	ENST00000393505	ensembl	human	known	70_37	silent	SNP	1.000	C	C	74994373	G	C	74994373	2	2	151	1	0	0	0	0	0	0	0	1	981	1277	45	1		1	ARRB1	11	74994373	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	342497	74994373	60012143	556	25189										
PCF11	51585	genome.wustl.edu	37	chr11	82879939	82879939	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttgaaggttcccctggtctGaggtttgagggatctccagg	14	8	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:82879939G>C	ENST00000298281.4	+	8	3014	c.2562G>C	c.(2560-2562)ctG>ctC	p.L854L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	854	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCCCTGGTCTGAGGTTTGAGG	0.572																																																	0													73	74	73					11																	82879939		1919	4129	6048	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2562G>C	11.37:g.82879939G>C			A6H8W7|O43671|Q6P0X8	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.L854	ENST00000298281.4	37	c.2562	CCDS44689.1	11																																																																																			PCF11	-	NULL		0.572	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	G	NM_015885		82879939	1	no_errors	ENST00000298281	ensembl	human	known	70_37	silent	SNP	0.998	C	C	82879939	G	C	82879939	2	2	151	1	0	0	0	0	0	0	0	1	11597	1277	45	1		1	PCF11	11	82879939	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7885566	82879939	52126577	557	25190										
SYTL2	54843	genome.wustl.edu	37	chr11	85435824	85435824	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtactacctattaactttGatggagaaagattccctgta	7	8	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:85435824G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.S559L|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1083L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S559L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TATTAACTTTGATGGAGAAAG	0.428																																																	0													83	83	83					11																	85435824		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3114C>T	11.37:g.85435824G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S1083L	ENST00000528231.1	37	c.3248	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655262	0.29425	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.36878	1.25;1.23;1.24	5.58	4.67	0.58626	.	1.541800	0.03537	N	0.223384	T	0.36110	0.0955	L	0.34521	1.04	0.09310	N	1	P;P;P	0.42296	0.775;0.775;0.775	B;B;B	0.43916	0.436;0.436;0.436	T	0.20140	-1.0284	9	.	.	.	1.0116	7.7675	0.28988	0.0847:0.1635:0.7518:0.0	.	559;559;559	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	L	1083;559;559	ENSP00000352065:S1083L;ENSP00000346576:S559L;ENSP00000432694:S559L	.	S	-	2	0	SYTL2	85113472	0.006000	0.16342	0.003000	0.11579	0.164000	0.22412	1.585000	0.36600	1.586000	0.49944	0.655000	0.94253	TCA	SYTL2	-	NULL		0.428	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85435824	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.001	A	A	85435824	G	A	85435824	1	1	151	0	1	0	0	0	0	0	0	0	15513	1294	45	1		1	SYTL2	11	85435824	Intron	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2555885	85435824	49570692	558	25191										
SYTL2	54843	genome.wustl.edu	37	chr11	85437315	85437315	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttcatgggtatttttacctGataatttaatgtcgctgaat	7	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:85437315G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.S62L|SYTL2_ENST00000359152.5_Missense_Mutation_p.S586L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S62L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATTTTTACCTGATAATTTAAT	0.368																																																	0													158	153	154					11																	85437315		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1623C>T	11.37:g.85437315G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S586L	ENST00000528231.1	37	c.1757	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111877	0.20714	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.32753	1.45;1.44;1.44	5.91	4.97	0.65823	.	1.140500	0.06573	N	0.748816	T	0.23210	0.0561	L	0.29908	0.895	0.09310	N	1	P;P;P	0.41848	0.763;0.763;0.763	B;B;B	0.37144	0.242;0.242;0.242	T	0.04664	-1.0935	9	.	.	.	0.4378	7.8937	0.29693	0.0809:0.0:0.7581:0.1611	.	62;62;62	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	L	586;62;62	ENSP00000352065:S586L;ENSP00000346576:S62L;ENSP00000432694:S62L	.	S	-	2	0	SYTL2	85114963	0.011000	0.17503	0.957000	0.39632	0.170000	0.22686	0.927000	0.28818	2.791000	0.96007	0.655000	0.94253	TCA	SYTL2	-	NULL		0.368	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85437315	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.081	A	A	85437315	G	A	85437315	1	1	151	0	1	0	0	0	0	0	0	0	15513	1294	45	1		1	SYTL2	11	85437315	Intron	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1491	85437315	49569201	559	25192										
FAT3	120114	genome.wustl.edu	37	chr11	92087928	92087928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgccatcaatagctcaactGgaatcgtttatgtagccgac	8	10	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:92087928G>A	ENST00000298047.6	+	1	2667	c.2650G>A	c.(2650-2652)Gga>Aga	p.G884R	FAT3_ENST00000409404.2_Missense_Mutation_p.G884R|FAT3_ENST00000525166.1_Missense_Mutation_p.G734R|FAT3_ENST00000541502.1_Missense_Mutation_p.G884R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	884	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCTCAACTGGAATCGTTTA	0.448										TCGA Ovarian(4;0.039)																																							0													106	101	103					11																	92087928		1932	4132	6064	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2650G>A	11.37:g.92087928G>A	ENSP00000298047:p.Gly884Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G884R	ENST00000298047.6	37	c.2650		11	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764413	0.69878	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.59	5.59	0.84812	.	.	.	.	.	D	0.97794	0.9276	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	9	0.87932	D	0	.	18.5873	0.91194	0.0:0.0:1.0:0.0	.	884	Q8TDW7-3	.	R	884;884;884;734	ENSP00000298047:G884R;ENSP00000387040:G884R;ENSP00000443786:G884R;ENSP00000432586:G734R	ENSP00000298047:G884R	G	+	1	0	FAT3	91727576	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	9.787000	0.99055	2.640000	0.89533	0.467000	0.42956	GGA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92087928	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92087928	G	A	92087928	3	1	151	1	0	0	0	0	1	0	0	0	5709	1349	47	4	2652	4	FAT3	11	92087928	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6650613	92087928	42918588	560	25193										
FAT3	120114	genome.wustl.edu	37	chr11	92532507	92532507	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttatcaggtgacagccattGacaaagataaaggtccaaat	8	7	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:92532507G>T	ENST00000298047.6	+	9	6345	c.6328G>T	c.(6328-6330)Gac>Tac	p.D2110Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D2110Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D1960Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2110	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGCCATTGACAAAGATAA	0.433										TCGA Ovarian(4;0.039)																																							0													48	48	48					11																	92532507		1904	4125	6029	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6328G>T	11.37:g.92532507G>T	ENSP00000298047:p.Asp2110Tyr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2110Y	ENST00000298047.6	37	c.6328		11	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663200	0.67700	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.75260	-0.92;-0.92;-0.92	5.9	5.9	0.94986	.	.	.	.	.	D	0.92718	0.7685	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94960	0.8107	9	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	2110	Q8TDW7-3	.	Y	2110;2110;1960	ENSP00000298047:D2110Y;ENSP00000387040:D2110Y;ENSP00000432586:D1960Y	ENSP00000298047:D2110Y	D	+	1	0	FAT3	92172155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.806000	0.96561	0.655000	0.94253	GAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92532507	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92532507	G	T	92532507	3	4	151	1	0	0	0	0	1	0	0	0	5709	1290	45	3	6362	3	FAT3	11	92532507	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	444579	92532507	42474009	561	25194										
MTNR1B	4544	genome.wustl.edu	37	chr11	92714991	92714991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaccgccagcacccagtacaCggcggcagtggtggtcatcc	13	15	1	0	rs138675484		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:92714991C>T	ENST00000257068.2	+	2	608	c.602C>T	c.(601-603)aCg>aTg	p.T201M		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	201					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACCCAGTACACGGCGGCAGTG	0.612																																																	0													64	61	62					11																	92714991		2201	4298	6499	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.602C>T	11.37:g.92714991C>T	ENSP00000257068:p.Thr201Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.T201M	ENST00000257068.2	37	c.602	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236246	0.39498	.	.	ENSG00000134640	ENST00000257068	T	0.38240	1.15	4.21	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.053655	0.64402	D	0.000001	T	0.64494	0.2603	M	0.88377	2.95	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.72924	-0.4144	10	0.62326	D	0.03	-13.581	14.3818	0.66916	0.0:0.8511:0.1489:0.0	.	201	P49286	MTR1B_HUMAN	M	201	ENSP00000257068:T201M	ENSP00000257068:T201M	T	+	2	0	MTNR1B	92354639	1.000000	0.71417	0.316000	0.25252	0.001000	0.01503	5.339000	0.65953	1.101000	0.41535	0.491000	0.48974	ACG	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn		0.612	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	C			92714991	1	no_errors	ENST00000257068	ensembl	human	known	70_37	missense	SNP	0.998	T	T	92714991	C	T	92714991	3	4	151	1	0	0	0	0	1	0	0	0	9975	536	19	2	608	2	MTNR1B	11	92714991	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	182484	92714991	42291525	562	25195										
FDXACB1	91893	genome.wustl.edu	37	chr11	111749417	111749418	+	Frame_Shift_Ins	INS	-	-	C													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccagctgggtgcagtccacaINSccgaaacgtacatcgatacc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:111749417_111749418insC	ENST00000260257.4	-	2	238_239	c.191_192insG	c.(190-192)ggtfs	p.G64fs	ALG9_ENST00000524880.1_Frame_Shift_Ins_p.G64fs|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000530214.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	64					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGCAGTCCACACCGAAACGTAC	0.455											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.192dupG	11.37:g.111749419_111749419dupC	ENSP00000260257:p.Gly64fs	1437	A0PJW7|B4DUU2	Frame_Shift_Ins	INS	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.V65fs	ENST00000260257.4	37	c.192_191	CCDS44729.1	11																																																																																			FDXACB1	-	pfam_DUF2431		0.455	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	-	NM_138378		111749418	-1	no_errors	ENST00000260257	ensembl	human	known	70_37	frame_shift_ins	INS	0.942:0.953	C	C	111749418	-	C	111749417	7	5	151	1	0	1	1	0	0	0	0	0	5824	146	6	0	1698	0	FDXACB1	11	111749417	Frame_Shift_Ins	INS	-	TCGA-IR-A3LH-01A-21D-A20U-09	19034426	111749417	23257099	563	25196	147	2								
FDXACB1	91893	genome.wustl.edu	37	chr11	111749420	111749420	+	Silent	SNP	G	G	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctgggtgcagtccacaccGaaacgtacatcgatacctgg							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:111749420G>A	ENST00000260257.4	-	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	ALG9_ENST00000524880.1_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000530214.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	63					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGTCCACACCGAAACGTACAT	0.458											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	34	35					11																	111749420		1922	4123	6045	SO:0001819	synonymous_variant	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.189C>T	11.37:g.111749420G>A		1437	A0PJW7|B4DUU2	Silent	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.F63	ENST00000260257.4	37	c.189	CCDS44729.1	11																																																																																			FDXACB1	-	pfam_DUF2431		0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	G	NM_138378		111749420	-1	no_errors	ENST00000260257	ensembl	human	known	70_37	silent	SNP	0.940	A	A	111749420	G	A	111749420	2	1	151	1	0	0	0	0	0	0	0	1	5824	1049	37	1		1	FDXACB1	11	111749420	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3	111749420	23257096	564	25197	147	2								
CADM1	23705	genome.wustl.edu	37	chr11	115088689	115088689	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccttgtagaggataagtcatCtgaatgtgcacttgaggctt	11	7	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:115088689C>G	ENST00000452722.3	-	6	764	c.744G>C	c.(742-744)caG>caC	p.Q248H	CADM1_ENST00000537058.1_Missense_Mutation_p.Q248H|CADM1_ENST00000536727.1_Missense_Mutation_p.Q248H|CADM1_ENST00000331581.6_Missense_Mutation_p.Q248H|CADM1_ENST00000542447.2_Missense_Mutation_p.Q248H|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GATAAGTCATCTGAATGTGCA	0.443																																																	0													139	118	125					11																	115088689		2201	4296	6497	SO:0001583	missense	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.744G>C	11.37:g.115088689C>G	ENSP00000395359:p.Gln248His			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.Q248H	ENST00000452722.3	37	c.744	CCDS8373.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.043709|2.043709	0.36085|0.36085	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450	.|T;T;T;T;T;D	.|0.85556	.|2.4;2.4;2.4;2.4;2.4;-2.0	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Immunoglobulin-like (1);	.|0.366587	.|0.28338	.|N	.|0.015720	T|T	0.80336|0.80336	0.4604|0.4604	N|N	0.05351|0.05351	-0.065|-0.065	0.31306|0.31306	N|N	0.687765|0.687765	.|D;D;D;B;P	.|0.54601	.|0.959;0.959;0.967;0.006;0.898	.|P;P;P;B;B	.|0.53954	.|0.62;0.62;0.738;0.017;0.377	T|T	0.81152|0.81152	-0.1063|-0.1063	5|10	.|0.45353	.|T	.|0.12	.|.	14.173|14.173	0.65522|0.65522	0.1585:0.8415:0.0:0.0|0.1585:0.8415:0.0:0.0	.|.	.|248;248;249;248;248	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	H|H	247|248;248;248;248;207;248;101	.|ENSP00000439176:Q248H;ENSP00000395359:Q248H;ENSP00000439817:Q248H;ENSP00000440322:Q248H;ENSP00000329797:Q248H;ENSP00000442001:Q101H	.|ENSP00000329797:Q248H	D|Q	-|-	1|3	0|2	CADM1|CADM1	114593899|114593899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.788000|1.788000	0.38714|0.38714	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GAT|CAG	CADM1	-	pfscan_Ig-like		0.443	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	C	NM_014333		115088689	-1	no_errors	ENST00000452722	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115088689	C	G	115088689	3	3	151	1	0	0	0	0	1	0	0	0	2571	912	32	1	604	1	CADM1	11	115088689	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3339269	115088689	19917827	565	25198										
HYOU1	10525	genome.wustl.edu	37	chr11	118920534	118920534	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgtcctctaccagtgtctCaaatacagactccacctgaa	6	14	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:118920534C>G	ENST00000404233.3	-	15	1805	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	HYOU1_ENST00000529972.1_Missense_Mutation_p.E561Q|HYOU1_ENST00000525859.1_Missense_Mutation_p.E561Q|HYOU1_ENST00000543287.1_Missense_Mutation_p.E474Q	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	561					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCAGTGTCTCAAATACAGAC	0.433																																																	0													268	245	253					11																	118920534		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1681G>C	11.37:g.118920534C>G	ENSP00000384144:p.Glu561Gln		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E561Q	ENST00000404233.3	37	c.1681	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649429	0.87958	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.02812	5.45;5.45;5.45;4.15;5.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.00121	-1.2029	10	0.72032	D	0.01	-34.6025	17.918	0.88958	0.0:1.0:0.0:0.0	.	552;605;561;561	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	Q	561;552;561;561;410;561;604;474;561	ENSP00000384144:E561Q;ENSP00000437313:E561Q;ENSP00000433397:E561Q;ENSP00000442727:E474Q;ENSP00000431874:E561Q	ENSP00000278752:E552Q	E	-	1	0	HYOU1	118425744	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.507000	0.73717	2.693000	0.91896	0.655000	0.94253	GAG	HYOU1	-	pfam_Hsp_70_fam		0.433	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	C	NM_006389		118920534	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118920534	C	G	118920534	3	3	151	1	0	0	0	0	1	0	0	0	7490	835	29	1	1366	1	HYOU1	11	118920534	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3831845	118920534	16085982	566	25199										
HYOU1	10525	genome.wustl.edu	37	chr11	118924883	118924883	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atcccagcttccttagtcttCaccatctggtaggtcacaat	6	13	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:118924883C>T	ENST00000404233.3	-	8	868	c.744G>A	c.(742-744)gtG>gtA	p.V248V	HYOU1_ENST00000529972.1_Silent_p.V248V|HYOU1_ENST00000525859.1_Silent_p.V248V|HYOU1_ENST00000543287.1_Silent_p.V161V	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	248					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCTTAGTCTTCACCATCTGGT	0.517																																																	0													83	71	75					11																	118924883		2200	4295	6495	SO:0001819	synonymous_variant	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.744G>A	11.37:g.118924883C>T			A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.V248	ENST00000404233.3	37	c.744	CCDS8408.1	11																																																																																			HYOU1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.517	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	C	NM_006389		118924883	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118924883	C	T	118924883	2	4	151	1	0	0	0	0	0	0	0	1	7490	813	29	1		1	HYOU1	11	118924883	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4349	118924883	16081633	567	25200										
C11orf63	79864	genome.wustl.edu	37	chr11	122805695	122805695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggctctcagtttgtttatCacataaatactcatggatca	6	8	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:122805695C>G	ENST00000531316.1	+	4	1638	c.1546C>G	c.(1546-1548)Cac>Gac	p.H516D	C11orf63_ENST00000227349.2_Missense_Mutation_p.H516D			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	516					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTTTGTTTATCACATAAATAC	0.378																																																	0													71	74	73					11																	122805695		2202	4299	6501	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1546C>G	11.37:g.122805695C>G	ENSP00000431669:p.His516Asp		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.H516D	ENST00000531316.1	37	c.1546	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444707	0.12164	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.21191	2.02;2.02	5.92	-1.36	0.09085	.	1.641560	0.03017	N	0.150206	T	0.16981	0.0408	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26360	-1.0105	10	0.36615	T	0.2	-0.0635	6.143	0.20271	0.3611:0.4405:0.1984:0.0	.	516	Q6NUN7	CK063_HUMAN	D	516	ENSP00000227349:H516D;ENSP00000431669:H516D	ENSP00000227349:H516D	H	+	1	0	C11orf63	122310905	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.357000	0.20199	-0.174000	0.10743	-0.271000	0.10264	CAC	C11orf63	-	NULL		0.378	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	C	NM_024806		122805695	1	no_errors	ENST00000227349	ensembl	human	known	70_37	missense	SNP	0.000	G	G	122805695	C	G	122805695	3	3	151	1	0	0	0	0	1	0	0	0	1658	826	29	1	1624	1	C11orf63	11	122805695	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3880812	122805695	12200821	568	25201										
OR10G7	390265	genome.wustl.edu	37	chr11	123909245	123909245	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaatatggtctggacagcaGagtgcagagagccactgagc	13	9	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:123909245G>A	ENST00000330487.5	-	1	472	c.464C>T	c.(463-465)tCt>tTt	p.S155F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S155F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGACAGCAGAGTGCAGAGA	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											138	135	136					11																	123909245		2200	4297	6497	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.464C>T	11.37:g.123909245G>A	ENSP00000329689:p.Ser155Phe		Q6IFE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S155F	ENST00000330487.5	37	c.464	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734653	0.48939	.	.	ENSG00000182634	ENST00000330487	T	0.44881	0.91	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.347872	0.20989	N	0.082077	T	0.64549	0.2608	M	0.87269	2.87	0.34183	D	0.671209	D	0.67145	0.996	D	0.76575	0.988	T	0.75789	-0.3194	10	0.87932	D	0	.	8.6875	0.34247	0.1098:0.0:0.8902:0.0	.	155	Q8NGN6	O10G7_HUMAN	F	155	ENSP00000329689:S155F	ENSP00000329689:S155F	S	-	2	0	OR10G7	123414455	0.003000	0.15002	1.000000	0.80357	0.825000	0.46686	1.272000	0.33109	1.826000	0.53198	0.455000	0.32223	TCT	OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	G	NM_001004463		123909245	-1	no_errors	ENST00000330487	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123909245	G	A	123909245	3	1	151	1	0	0	0	0	1	0	0	0	10926	942	33	1	475	1	OR10G7	11	123909245	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1103550	123909245	11097271	569	25202										
IGSF9B	22997	genome.wustl.edu	37	chr11	133790132	133790132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accgggtgtccaggccaaatGtgctggggccgccgtgcgcc	16	14	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:133790132G>A	ENST00000321016.8	-	18	3718	c.3488C>T	c.(3487-3489)aCa>aTa	p.T1163I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T1163I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1163	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGGCCAAATGTGCTGGGGCC	0.682																																																	0													30	35	33					11																	133790132		1909	4106	6015	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3488C>T	11.37:g.133790132G>A	ENSP00000317980:p.Thr1163Ile		G5EA26	Missense_Mutation	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.T1163I	ENST00000321016.8	37	c.3488		11	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997453	0.54147	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71222	-0.23;-0.55	5.08	5.08	0.68730	.	0.303959	0.23654	N	0.045894	T	0.54191	0.1843	N	0.19112	0.55	0.36945	D	0.892581	P	0.41313	0.745	B	0.31614	0.133	T	0.68296	-0.5446	10	0.72032	D	0.01	.	16.2371	0.82381	0.0:0.0:1.0:0.0	.	1163	Q9UPX0	TUTLB_HUMAN	I	1163;1005	ENSP00000317980:T1163I;ENSP00000436552:T1005I	ENSP00000317980:T1163I	T	-	2	0	IGSF9B	133295342	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	7.175000	0.77632	2.358000	0.79984	0.455000	0.32223	ACA	IGSF9B	-	NULL		0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133790132	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133790132	G	A	133790132	3	1	151	1	0	0	0	0	1	0	0	0	7626	1377	48	4	569	4	IGSF9B	11	133790132	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9880887	133790132	1216384	570	25203										
ADIPOR2	79602	genome.wustl.edu	37	chr12	1863672	1863672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catctgttctatcttcccatCataaaaaagtaagtcaaatt	3	9	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:1863672C>G	ENST00000357103.4	+	2	414	c.163C>G	c.(163-165)Cat>Gat	p.H55D		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	55					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATCTTCCCATCATAAAAAAGT	0.428																																																	0													73	68	69					12																	1863672		2203	4300	6503	SO:0001583	missense	79602			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.163C>G	12.37:g.1863672C>G	ENSP00000349616:p.His55Asp		Q53YY5|Q9H737	Missense_Mutation	SNP	pfam_HlyIII-related	p.H55D	ENST00000357103.4	37	c.163	CCDS8511.1	12	.	.	.	.	.	.	.	.	.	.	C	3.109	-0.183133	0.06340	.	.	ENSG00000006831	ENST00000357103	D	0.96334	-3.98	5.26	2.2	0.27929	.	1.046820	0.07422	N	0.894216	D	0.88400	0.6426	N	0.08118	0	0.20489	N	0.999899	B	0.13145	0.007	B	0.15484	0.013	T	0.79356	-0.1837	10	0.14252	T	0.57	-0.0725	3.951	0.09369	0.0:0.5765:0.201:0.2225	.	55	Q86V24	ADR2_HUMAN	D	55	ENSP00000349616:H55D	ENSP00000349616:H55D	H	+	1	0	ADIPOR2	1733933	0.053000	0.20554	0.982000	0.44146	0.049000	0.14656	0.159000	0.16442	0.772000	0.33382	-0.266000	0.10368	CAT	ADIPOR2	-	NULL		0.428	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR2	HGNC	protein_coding	OTTHUMT00000252447.2	C	NM_024551		1863672	1	no_errors	ENST00000357103	ensembl	human	known	70_37	missense	SNP	0.799	G	G	1863672	C	G	1863672	3	3	151	1	0	0	0	0	1	0	0	0	319	826	29	1	165	1	ADIPOR2	12	1863672	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		1863672	131988223	571	25204										
LRTM2	654429	genome.wustl.edu	37	chr12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagggacctgctgcggcactCgccgctgctccgccacctgg	13	18	0	0	rs527284344		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652																																																	0													45	51	49					12																	1940449		2203	4300	6503	SO:0001583	missense	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.416C>T	12.37:g.1940449C>T	ENSP00000446278:p.Ser139Leu		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S139L	ENST00000543818.1	37	c.416	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.334890	0.01287	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.31510	1.49;1.49;1.49	5.25	1.24	0.21308	.	0.910058	0.09609	N	0.779217	T	0.05686	0.0149	N	0.00205	-1.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36696	-0.9737	10	0.02654	T	1	.	5.421	0.16400	0.0:0.5651:0.1339:0.301	.	139	Q8N967	LRTM2_HUMAN	L	139	ENSP00000446278:S139L;ENSP00000299194:S139L;ENSP00000444737:S139L	ENSP00000299194:S139L	S	+	2	0	LRTM2	1810710	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	1.097000	0.30988	-0.041000	0.13558	0.561000	0.74099	TCG	LRTM2	-	NULL		0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	C			1940449	1	no_errors	ENST00000299194	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1940449	C	T	1940449	3	4	151	1	0	0	0	0	1	0	0	0	9068	893	31	1	422	1	LRTM2	12	1940449	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	76777	1940449	131911446	572	25205										
LRRC23	10233	genome.wustl.edu	37	chr12	7022060	7022060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggacaaggaattctatgagGaggaggaacgggctgaggct	17	5	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:7022060G>A	ENST00000007969.8	+	7	1145	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ENO2_ENST00000229277.1_5'Flank|ENO2_ENST00000541477.1_5'Flank|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Intron|ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|ENO2_ENST00000538763.1_5'Flank|LRRC23_ENST00000443597.2_Missense_Mutation_p.E309K|ENO2_ENST00000544774.1_5'Flank|LRRC23_ENST00000436789.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	309	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATTCTATGAGGAGGAGGAACG	0.567																																																	0													149	147	148					12																	7022060		2203	4300	6503	SO:0001583	missense	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.925G>A	12.37:g.7022060G>A	ENSP00000007969:p.Glu309Lys		A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.E309K	ENST00000007969.8	37	c.925	CCDS8569.1	12	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417312	0.42918	.	.	ENSG00000010626	ENST00000007969;ENST00000443597	T;T	0.53640	0.61;0.61	5.27	5.27	0.74061	.	.	.	.	.	T	0.40979	0.1139	L	0.52364	1.645	0.80722	D	1	P;P	0.39282	0.666;0.666	B;B	0.32149	0.141;0.141	T	0.35001	-0.9806	9	0.35671	T	0.21	-19.4508	16.3056	0.82846	0.0:0.1321:0.8679:0.0	.	309;309	A8K8K2;Q53EV4	.;LRC23_HUMAN	K	309	ENSP00000007969:E309K;ENSP00000390932:E309K	ENSP00000007969:E309K	E	+	1	0	LRRC23	6892321	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	1.710000	0.37920	2.597000	0.87782	0.555000	0.69702	GAG	LRRC23	-	NULL		0.567	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	G	NM_006992		7022060	1	no_errors	ENST00000007969	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7022060	G	A	7022060	3	1	151	1	0	0	0	0	1	0	0	0	9001	1175	41	1	947	1	LRRC23	12	7022060	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5081611	7022060	126829835	573	25206										
LPCAT3	10162	genome.wustl.edu	37	chr12	7086371	7086371	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgtgaatataaggcaatatGaatagtaggctcaggaagaa	11	3	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:7086371G>A	ENST00000261407.4	-	12	1486	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	467					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAGGCAATATGAATAGTAGGC	0.403																																																	0													86	88	87					12																	7086371		2203	4300	6503	SO:0001819	synonymous_variant	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1401C>T	12.37:g.7086371G>A			B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	pfam_MBOAT_fam	p.F467	ENST00000261407.4	37	c.1401	CCDS8572.1	12																																																																																			LPCAT3	-	NULL		0.403	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT3	HGNC	protein_coding	OTTHUMT00000401812.1	G	NM_005768		7086371	-1	no_errors	ENST00000261407	ensembl	human	known	70_37	silent	SNP	0.038	A	A	7086371	G	A	7086371	2	1	151	1	0	0	0	0	0	0	0	1	8935	1281	45	1		1	LPCAT3	12	7086371	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	64311	7086371	126765524	574	25207										
EMP1	2012	genome.wustl.edu	37	chr12	13366640	13366640	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcaagacagtgcaggccttCatgattctctctatcatctt	6	12	6	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:13366640C>G	ENST00000256951.5	+	4	400	c.201C>G	c.(199-201)ttC>ttG	p.F67L	EMP1_ENST00000544053.1_5'UTR|EMP1_ENST00000431267.2_5'UTR|EMP1_ENST00000396301.3_Missense_Mutation_p.F67L|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	67					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGCAGGCCTTCATGATTCTCT	0.532																																																	0													337	287	304					12																	13366640		2203	4300	6503	SO:0001583	missense	2012			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.201C>G	12.37:g.13366640C>G	ENSP00000256951:p.Phe67Leu		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.F67L	ENST00000256951.5	37	c.201	CCDS8660.1	12	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626643	0.28978	.	.	ENSG00000134531	ENST00000256951;ENST00000538364;ENST00000396301	D;D;D	0.86297	-2.1;-2.1;-2.1	5.96	4.11	0.48088	.	0.276969	0.46758	D	0.000267	T	0.81394	0.4813	L	0.35593	1.075	0.80722	D	1	D;P	0.52996	0.957;0.775	B;P	0.46718	0.426;0.525	T	0.77480	-0.2572	10	0.10902	T	0.67	-1.2587	12.4748	0.55807	0.0:0.8115:0.0:0.1885	.	67;67	B4DRR1;P54849	.;EMP1_HUMAN	L	67	ENSP00000256951:F67L;ENSP00000441223:F67L;ENSP00000379595:F67L	ENSP00000256951:F67L	F	+	3	2	EMP1	13257907	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.482000	0.45224	1.501000	0.48654	0.655000	0.94253	TTC	EMP1	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.532	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1	C	NM_001423		13366640	1	no_errors	ENST00000256951	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13366640	C	G	13366640	3	3	151	1	0	0	0	0	1	0	0	0	5113	825	29	1	211	1	EMP1	12	13366640	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6280269	13366640	120485255	575	25208			1	108		3	3	93	C		3.754938e-06
EMP1	2012	genome.wustl.edu	37	chr12	13366700	13366700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcttcgtgttccagctcttCaccatggagaagggaaaccg	11	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:13366700C>G	ENST00000256951.5	+	4	460	c.261C>G	c.(259-261)ttC>ttG	p.F87L	EMP1_ENST00000544053.1_Missense_Mutation_p.F20L|EMP1_ENST00000431267.2_Missense_Mutation_p.F20L|EMP1_ENST00000396301.3_Missense_Mutation_p.F87L|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	87					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCCAGCTCTTCACCATGGAGA	0.502																																																	0													230	203	212					12																	13366700		2203	4300	6503	SO:0001583	missense	2012			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.261C>G	12.37:g.13366700C>G	ENSP00000256951:p.Phe87Leu		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.F87L	ENST00000256951.5	37	c.261	CCDS8660.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455776	0.84209	.	.	ENSG00000134531	ENST00000256951;ENST00000431267;ENST00000544053;ENST00000538364;ENST00000396301	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92957	0.6385	10	0.39692	T	0.17	-33.4748	10.1854	0.42995	0.0:0.794:0.0:0.206	.	87;87	B4DRR1;P54849	.;EMP1_HUMAN	L	87;20;20;87;87	ENSP00000256951:F87L;ENSP00000410755:F20L;ENSP00000445497:F20L;ENSP00000441223:F87L;ENSP00000379595:F87L	ENSP00000256951:F87L	F	+	3	2	EMP1	13257967	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.570000	0.45981	1.530000	0.49136	0.655000	0.94253	TTC	EMP1	-	pfam_PMP22/EMP/MP20/Claudin		0.502	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1	C	NM_001423		13366700	1	no_errors	ENST00000256951	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13366700	C	G	13366700	3	3	151	1	0	0	0	0	1	0	0	0	5113	825	29	1	271	1	EMP1	12	13366700	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	60	13366700	120485195	576	25209			1	108		3	3	93	C		3.754938e-06
EMP1	2012	genome.wustl.edu	37	chr12	13366732	13366732	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggaaaccggttcttcctctCaggggccaccacactggtgt	12	13	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:13366732C>G	ENST00000256951.5	+	4	492	c.293C>G	c.(292-294)tCa>tGa	p.S98*	EMP1_ENST00000544053.1_Nonsense_Mutation_p.S31*|EMP1_ENST00000431267.2_Nonsense_Mutation_p.S31*|EMP1_ENST00000396301.3_Nonsense_Mutation_p.S98*|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	98					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TTCTTCCTCTCAGGGGCCACC	0.493																																																	0													154	144	147					12																	13366732		2203	4300	6503	SO:0001587	stop_gained	2012			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.293C>G	12.37:g.13366732C>G	ENSP00000256951:p.Ser98*		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Nonsense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.S98*	ENST00000256951.5	37	c.293	CCDS8660.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.173633	0.97348	.	.	ENSG00000134531	ENST00000256951;ENST00000431267;ENST00000544053;ENST00000538364;ENST00000396301	.	.	.	5.66	5.66	0.87406	.	0.225191	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.7565	20.1156	0.97930	0.0:1.0:0.0:0.0	.	.	.	.	X	98;31;31;98;98	.	ENSP00000256951:S98X	S	+	2	0	EMP1	13257999	1.000000	0.71417	0.954000	0.39281	0.957000	0.61999	5.075000	0.64407	2.824000	0.97209	0.655000	0.94253	TCA	EMP1	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.493	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1	C	NM_001423		13366732	1	no_errors	ENST00000256951	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	13366732	C	G	13366732	4	3	151	1	0	0	0	0	0	1	0	0	5113	838	29	1	303	1	EMP1	12	13366732	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	32	13366732	120485163	577	25210			1	108		3	3	93	C		3.754938e-06
RECQL	5965	genome.wustl.edu	37	chr12	21639444	21639444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagcatttaacatggttgctGaaattcctaattgttttaaa	6	5	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:21639444G>A	ENST00000444129.2	-	5	938	c.470C>T	c.(469-471)tCa>tTa	p.S157L	RECQL_ENST00000421138.2_Missense_Mutation_p.S157L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	157	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CATGGTTGCTGAAATTCCTAA	0.308								Other identified genes with known or suspected DNA repair function																																									0													65	64	65					12																	21639444		2203	4298	6501	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.470C>T	12.37:g.21639444G>A	ENSP00000416739:p.Ser157Leu		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S157L	ENST00000444129.2	37	c.470	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.071981	0.93950	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748	T;T;T;T	0.75821	-0.97;-0.97;-0.08;-0.08	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.122244	0.56097	D	0.000021	T	0.77184	0.4093	L	0.39692	1.235	0.53688	D	0.999972	D	0.56968	0.978	P	0.52598	0.703	T	0.74016	-0.3800	10	0.34782	T	0.22	-5.5078	20.2985	0.98592	0.0:0.0:1.0:0.0	.	157	P46063	RECQ1_HUMAN	L	157	ENSP00000416739:S157L;ENSP00000395449:S157L;ENSP00000379400:S157L;ENSP00000318727:S157L	ENSP00000318727:S157L	S	-	2	0	RECQL	21530711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.917000	0.92751	2.793000	0.96121	0.655000	0.94253	TCA	RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ		0.308	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	G	NM_002907		21639444	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21639444	G	A	21639444	3	1	151	1	0	0	0	0	1	0	0	0	13231	1294	45	1	1523	1	RECQL	12	21639444	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8272712	21639444	112212451	578	25211										
C12orf71	728858	genome.wustl.edu	37	chr12	27235002	27235002	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagattttctagaaatatctGaaactcttgcacaagattat	5	7	3	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:27235002G>C	ENST00000429849.2	-	1	445	c.415C>G	c.(415-417)Cag>Gag	p.Q139E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	139										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						AGAAATATCTGAAACTCTTGC	0.408																																																	0													62	57	59					12																	27235002		1839	4092	5931	SO:0001583	missense	728858				CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.415C>G	12.37:g.27235002G>C	ENSP00000413728:p.Gln139Glu			Missense_Mutation	SNP	NULL	p.Q139E	ENST00000429849.2	37	c.415	CCDS44851.1	12	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.232761	0.00277	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.21932	1.98	3.22	1.32	0.21799	.	0.265904	0.19338	N	0.116735	T	0.05410	0.0143	N	0.02247	-0.625	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40059	-0.9583	10	0.02654	T	1	-4.6049	4.507	0.11893	0.0:0.6256:0.2376:0.1368	.	139	A8MTZ7	CL071_HUMAN	E	139	ENSP00000413728:Q139E	ENSP00000381796:Q139E	Q	-	1	0	C12orf71	27126269	0.024000	0.19004	0.028000	0.17463	0.010000	0.07245	0.490000	0.22403	0.195000	0.20347	-0.416000	0.06073	CAG	C12orf71	-	NULL		0.408	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf71	HGNC	protein_coding	OTTHUMT00000403258.1	G	NM_001080406		27235002	-1	no_errors	ENST00000429849	ensembl	human	known	70_37	missense	SNP	0.013	C	C	27235002	G	C	27235002	3	2	151	1	0	0	0	0	1	0	0	0	1716	1299	45	1	402	1	C12orf71	12	27235002	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5595558	27235002	106616893	579	25212										
C12orf35	55196	genome.wustl.edu	37	chr12	32138266	32138266	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagaagcataaagaagctctGagtaataaagcatcgaagaa	9	6	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:32138266G>C	ENST00000312561.4	+	4	4791	c.4377G>C	c.(4375-4377)ctG>ctC	p.L1459L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1459				L -> P (in Ref. 3; BAA91734). {ECO:0000305}.													AAGAAGCTCTGAGTAATAAAG	0.378																																																	0													61	67	65					12																	32138266		2203	4299	6502	SO:0001819	synonymous_variant	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4377G>C	12.37:g.32138266G>C			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	NULL	p.L1459	ENST00000312561.4	37	c.4377	CCDS8725.2	12																																																																																			KIAA1551	-	NULL		0.378	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32138266	1	no_errors	ENST00000312561	ensembl	human	known	70_37	silent	SNP	0.000	C	C	32138266	G	C	32138266	2	2	151	1	0	0	0	0	0	0	0	1	1686	1277	45	1		1	C12orf35	12	32138266	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4903264	32138266	101713629	580	25213										
KIF21A	55605	genome.wustl.edu	37	chr12	39716558	39716559	+	Missense_Mutation	DNP	TC	TC	AG													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtctctgtattcattccaaTctcttgcccttctgcaacag							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:39716558_39716559TC>AG	ENST00000361418.5	-	27	3597_3598	c.3582_3583GA>CT	c.(3580-3585)gaGAtt>gaCTtt	p.1194_1195EI>DF	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Missense_Mutation_p.1194_1195EI>DF|KIF21A_ENST00000544797.2_Missense_Mutation_p.1174_1175EI>DF|KIF21A_ENST00000541463.2_Missense_Mutation_p.1158_1159EI>DF|KIF21A_ENST00000361961.3_Missense_Mutation_p.1181_1182EI>DF			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1194					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCATTCCAATCTCTTGCCCTT	0.49																																																	0																																										SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3582_3583delinsAG	12.37:g.39716558_39716559delinsAG	ENSP00000354878:p.E1194_I1195delinsDF		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.I1195F|p.E1194D	ENST00000361418.5	37	c.3583|c.3582	CCDS53776.1	12																																																																																			KIF21A	-	NULL		0.49	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	T|C	NM_017641		39716558|39716559	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	0.904|0.910	A|G	AG	39716559	TC	AG	39716558	3	1	151	1	0	0	0	0	1	0	0	0	8308	1435	50	5	1489	5	KIF21A	12	39716558	Missense_Mutation	DNP	TC	TCGA-IR-A3LH-01A-21D-A20U-09	7578292	39716558	94135337	581	25214										
NELL2	4753	genome.wustl.edu	37	chr12	45105117	45105117	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgagacaaggttatctgatGagactctggacaatccaaag	11	7	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:45105117G>A	ENST00000429094.2	-	11	1651	c.1147C>T	c.(1147-1149)Cat>Tat	p.H383Y	NELL2_ENST00000549027.1_Missense_Mutation_p.H382Y|NELL2_ENST00000452445.2_Missense_Mutation_p.H383Y|NELL2_ENST00000395487.2_Missense_Mutation_p.H382Y|NELL2_ENST00000333837.4_Missense_Mutation_p.H406Y|NELL2_ENST00000437801.2_Missense_Mutation_p.H433Y|NELL2_ENST00000551601.1_Missense_Mutation_p.H382Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	383						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTATCTGATGAGACTCTGGA	0.383																																																	0													129	116	120					12																	45105117		2203	4300	6503	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1147C>T	12.37:g.45105117G>A	ENSP00000390680:p.His383Tyr		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.H433Y	ENST00000429094.2	37	c.1297	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358266	0.41801	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;T;T;T;D;D;D	0.84660	-1.5;-1.48;-1.18;-1.48;-1.5;-1.88;-1.55	5.79	4.91	0.64330	.	0.405934	0.29529	N	0.011881	T	0.76463	0.3991	L	0.36672	1.1	0.25518	N	0.987392	B;B;B;B;B;B	0.31435	0.167;0.323;0.205;0.0;0.13;0.158	B;B;B;B;B;B	0.31245	0.091;0.105;0.126;0.001;0.033;0.105	T	0.60905	-0.7170	10	0.02654	T	1	-3.2349	15.1199	0.72434	0.0676:0.0:0.9324:0.0	.	406;433;382;383;383;382	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	Y	382;383;382;383;382;406;433;382	ENSP00000378866:H382Y;ENSP00000390680:H383Y;ENSP00000449332:H382Y;ENSP00000394612:H383Y;ENSP00000447927:H382Y;ENSP00000327988:H406Y;ENSP00000416341:H433Y	ENSP00000327988:H406Y	H	-	1	0	NELL2	43391384	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.716000	0.61916	1.457000	0.47850	-0.119000	0.15052	CAT	NELL2	-	NULL		0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	G	NM_006159		45105117	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45105117	G	A	45105117	3	1	151	1	0	0	0	0	1	0	0	0	10358	1290	45	1	1343	1	NELL2	12	45105117	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5388559	45105117	88746778	582	25215										
NELL2	4753	genome.wustl.edu	37	chr12	45209912	45209912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggatgcttttatgcttctGggagtatctaaaaaagaaac	10	5	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:45209912G>A	ENST00000429094.2	-	3	696	c.192C>T	c.(190-192)ccC>ccT	p.P64P	NELL2_ENST00000548826.1_Silent_p.P64P|NELL2_ENST00000549027.1_Silent_p.P63P|NELL2_ENST00000452445.2_Silent_p.P64P|NELL2_ENST00000395487.2_Silent_p.P63P|NELL2_ENST00000333837.4_Silent_p.P87P|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Silent_p.P114P|NELL2_ENST00000551601.1_Silent_p.P63P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	64	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTATGCTTCTGGGAGTATCTA	0.303																																																	0													83	91	88					12																	45209912		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.192C>T	12.37:g.45209912G>A			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.P114	ENST00000429094.2	37	c.342	CCDS8746.1	12																																																																																			NELL2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.303	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	G	NM_006159		45209912	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45209912	G	A	45209912	2	1	151	1	0	0	0	0	0	0	0	1	10358	1335	47	4		4	NELL2	12	45209912	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	104795	45209912	88641983	583	25216										
RPAP3	79657	genome.wustl.edu	37	chr12	48061569	48061569	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatgcagaattttaacgatCtggttgaatacatctggatc	8	7	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:48061569C>G	ENST00000005386.3	-	15	1894	c.1779G>C	c.(1777-1779)caG>caC	p.Q593H	RPAP3_ENST00000432584.3_Missense_Mutation_p.Q434H|RPAP3_ENST00000380650.4_Missense_Mutation_p.Q559H|RPAP3_ENST00000548211.1_5'Flank	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	593										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTTTAACGATCTGGTTGAATA	0.294																																																	0													47	44	45					12																	48061569		2199	4296	6495	SO:0001583	missense	79657			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1779G>C	12.37:g.48061569C>G	ENSP00000005386:p.Gln593His		B4DRW9|Q6PHR5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q593H	ENST00000005386.3	37	c.1779	CCDS8753.1	12	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688260	0.68271	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.55234	0.53;0.53;0.53	5.73	-4.85	0.03142	.	0.312268	0.34959	N	0.003544	T	0.54029	0.1833	L	0.51422	1.61	0.33338	D	0.569477	D;D	0.62365	0.989;0.991	P;P	0.60789	0.807;0.879	T	0.62718	-0.6795	10	0.56958	D	0.05	.	9.4732	0.38856	0.1143:0.5594:0.0:0.3263	.	559;593	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	H	593;434;559	ENSP00000005386:Q593H;ENSP00000401823:Q434H;ENSP00000370024:Q559H	ENSP00000005386:Q593H	Q	-	3	2	RPAP3	46347836	0.021000	0.18746	0.964000	0.40570	0.951000	0.60555	-1.761000	0.01805	-0.670000	0.05282	-0.484000	0.04775	CAG	RPAP3	-	NULL		0.294	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1	C	NM_024604		48061569	-1	no_errors	ENST00000005386	ensembl	human	known	70_37	missense	SNP	0.951	G	G	48061569	C	G	48061569	3	3	151	1	0	0	0	0	1	0	0	0	13573	912	32	1	230	1	RPAP3	12	48061569	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2851657	48061569	85790326	584	25217										
DDX23	9416	genome.wustl.edu	37	chr12	49224420	49224420	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcctcttttgtgaggaaggtGatggccaccccactcttgcc	10	13	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:49224420G>A	ENST00000308025.3	-	17	2374	c.2295C>T	c.(2293-2295)atC>atT	p.I765I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	765	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGAGGAAGGTGATGGCCACCC	0.572																																																	0													119	102	108					12																	49224420		2203	4300	6503	SO:0001819	synonymous_variant	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2295C>T	12.37:g.49224420G>A			B2R600|B4DH15|O43188	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I765	ENST00000308025.3	37	c.2295	CCDS8770.1	12																																																																																			DDX23	-	pfscan_Helicase_C		0.572	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	G	NM_004818		49224420	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49224420	G	A	49224420	2	1	151	1	0	0	0	0	0	0	0	1	4355	1280	45	1		1	DDX23	12	49224420	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1162851	49224420	84627475	585	25218										
DNAJC22	79962	genome.wustl.edu	37	chr12	49743276	49743276	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctctgcaacacagctgccacCctcagctatgtggcagaaac	8	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:49743276C>A	ENST00000549441.2	+	3	1825	c.621C>A	c.(619-621)acC>acA	p.T207T	DNAJC22_ENST00000395069.3_Silent_p.T207T			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	207						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CAGCTGCCACCCTCAGCTATG	0.557																																																	0													138	132	134					12																	49743276		2203	4300	6503	SO:0001819	synonymous_variant	79962			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.621C>A	12.37:g.49743276C>A			B3KP54	Silent	SNP	pfam_DnaJ_N,pfam_TM2,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.T207	ENST00000549441.2	37	c.621	CCDS8785.1	12																																																																																			DNAJC22	-	NULL		0.557	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC22	HGNC	protein_coding	OTTHUMT00000404302.2	C	NM_024902		49743276	1	no_errors	ENST00000395069	ensembl	human	known	70_37	silent	SNP	0.216	A	A	49743276	C	A	49743276	2	1	151	1	0	0	0	0	0	0	0	1	4651	610	22	4		4	DNAJC22	12	49743276	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	518856	49743276	84108619	586	25219										
KRT86	3892	genome.wustl.edu	37	chr12	52695763	52695763	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atctcggcctgcgggccccgGcccggccgctgctgcatcac	13	19	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:52695763G>C	ENST00000423955.2	+	3	241	c.63G>C	c.(61-63)cgG>cgC	p.R21R	KRT86_ENST00000293525.5_Silent_p.R21R|KRT86_ENST00000544024.1_Silent_p.R21R			O43790	KRT86_HUMAN	keratin 86	21	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCCCCGGCCCGGCCGCT	0.667																																																	0													31	37	35					12																	52695763		2130	4257	6387	SO:0001819	synonymous_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.63G>C	12.37:g.52695763G>C			P78387	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R21	ENST00000423955.2	37	c.63	CCDS41785.1	12																																																																																			KRT86	-	NULL		0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	G	NM_002284		52695763	1	no_errors	ENST00000293525	ensembl	human	known	70_37	silent	SNP	0.902	C	C	52695763	G	C	52695763	2	2	151	1	0	0	0	0	0	0	0	1	8520	1190	42	4		4	KRT86	12	52695763	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2952487	52695763	81156132	587	25220										
NEUROD4	58158	genome.wustl.edu	37	chr12	55420392	55420392	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcatgacagtattgaggaaGaagaagaagaggaagaagat	14	2	0	8			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:55420392G>C	ENST00000242994.3	+	2	547	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	57	Asp/Glu-rich (acidic).				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TATTgaggaagaagaagaaga	0.483																																																	0													54	49	51					12																	55420392		2203	4300	6503	SO:0001583	missense	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.169G>C	12.37:g.55420392G>C	ENSP00000242994:p.Glu57Gln		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.E57Q	ENST00000242994.3	37	c.169	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082680	0.36758	.	.	ENSG00000123307	ENST00000242994	D	0.96168	-3.93	5.37	4.42	0.53409	.	0.297578	0.35739	N	0.003004	D	0.93657	0.7974	M	0.72118	2.19	0.43527	D	0.995804	B	0.26876	0.162	B	0.21360	0.034	D	0.91596	0.5291	10	0.38643	T	0.18	-10.6967	13.6002	0.62015	0.0:0.1568:0.8432:0.0	.	57	Q9HD90	NDF4_HUMAN	Q	57	ENSP00000242994:E57Q	ENSP00000242994:E57Q	E	+	1	0	NEUROD4	53706659	1.000000	0.71417	0.960000	0.40013	0.758000	0.43043	7.378000	0.79679	2.683000	0.91414	0.655000	0.94253	GAA	NEUROD4	-	pirsf_TF_bHLH_NeuroD		0.483	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	G			55420392	1	no_errors	ENST00000242994	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55420392	G	C	55420392	3	2	151	1	0	0	0	0	1	0	0	0	10374	943	33	1	171	1	NEUROD4	12	55420392	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2724629	55420392	78431503	588	25221										
DNAJC14	85406	genome.wustl.edu	37	chr12	56222284	56222284	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttaggaccagagtgctctgtGaggcagcgggtaccattagg	15	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56222284G>A	ENST00000357606.3	-	3	448	c.159C>T	c.(157-159)ctC>ctT	p.L53L	DNAJC14_ENST00000317269.3_Silent_p.L53L|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Silent_p.L53L|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	53					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGTGCTCTGTGAGGCAGCGGG	0.592																																																	0													169	147	155					12																	56222284		2203	4300	6503	SO:0001819	synonymous_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.159C>T	12.37:g.56222284G>A			A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L53	ENST00000357606.3	37	c.159	CCDS8894.1	12																																																																																			DNAJC14	-	NULL		0.592	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56222284	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	silent	SNP	0.986	A	A	56222284	G	A	56222284	2	1	151	1	0	0	0	0	0	0	0	1	4643	1277	45	1		1	DNAJC14	12	56222284	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	801892	56222284	77629611	589	25222										
DNAJC14	85406	genome.wustl.edu	37	chr12	56222339	56222339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtccctgagtcctgagaatGaaggtatttcagggtccacg	12	9	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56222339G>A	ENST00000357606.3	-	3	393	c.104C>T	c.(103-105)tCa>tTa	p.S35L	DNAJC14_ENST00000317269.3_Missense_Mutation_p.S35L|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S35L|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	35					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S35*(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCTGAGAATGAAGGTATTTC	0.587																																																	1	Substitution - Nonsense(1)	breast(1)											127	114	119					12																	56222339		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.104C>T	12.37:g.56222339G>A	ENSP00000350223:p.Ser35Leu		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S35L	ENST00000357606.3	37	c.104	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107441	0.20714	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445;ENST00000546957	T;T;T	0.38077	1.16;1.16;1.16	5.84	4.03	0.46877	.	0.416475	0.18257	N	0.146747	T	0.24314	0.0589	N	0.24115	0.695	0.30553	N	0.765269	B;B	0.27823	0.19;0.041	B;B	0.24155	0.051;0.025	T	0.19160	-1.0314	10	0.87932	D	0	-1.0634	9.432	0.38615	0.1633:0.0:0.8367:0.0	.	35;35	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	L	35	ENSP00000350223:S35L;ENSP00000316240:S35L;ENSP00000317500:S35L	ENSP00000316240:S35L	S	-	2	0	DNAJC14	54508606	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	1.992000	0.40737	0.945000	0.37605	-0.133000	0.14855	TCA	DNAJC14	-	NULL		0.587	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56222339	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56222339	G	A	56222339	3	1	151	1	0	0	0	0	1	0	0	0	4643	1294	45	1	2028	1	DNAJC14	12	56222339	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	55	56222339	77629556	590	25223										
MMP19	4327	genome.wustl.edu	37	chr12	56234954	56234954	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggccacaacgaggctgcctCatgcgggcccttgtggcatc	13	14	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56234954C>T	ENST00000322569.4	-	3	331	c.240G>A	c.(238-240)atG>atA	p.M80I	MMP19_ENST00000409200.3_Missense_Mutation_p.M80I|MMP19_ENST00000548629.1_Missense_Mutation_p.M80I|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000394182.1_5'Flank	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	80					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GAGGCTGCCTCATGCGGGCCC	0.547																																																	0													83	84	84					12																	56234954		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.240G>A	12.37:g.56234954C>T	ENSP00000313437:p.Met80Ile		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.M80I	ENST00000322569.4	37	c.240	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.336952	0.95758	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.44482	0.92;0.92;0.92	5.8	5.8	0.92144	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.72194	-0.4364	10	0.66056	D	0.02	.	18.8323	0.92145	0.0:1.0:0.0:0.0	.	80;80	B4E030;Q99542	.;MMP19_HUMAN	I	80	ENSP00000313437:M80I;ENSP00000446979:M80I;ENSP00000386625:M80I	ENSP00000313437:M80I	M	-	3	0	MMP19	54521221	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.860000	0.75473	2.755000	0.94549	0.655000	0.94253	ATG	MMP19	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.547	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	C	NM_002429		56234954	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56234954	C	T	56234954	3	4	151	1	0	0	0	0	1	0	0	0	9680	826	29	1	1314	1	MMP19	12	56234954	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	12615	56234954	77616941	591	25224										
ERBB3	2065	genome.wustl.edu	37	chr12	56495457	56495457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatccccctaggccaagttCccttgaggagctgggttatg	11	12	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56495457C>T	ENST00000267101.3	+	28	4087	c.3647C>T	c.(3646-3648)tCc>tTc	p.S1216F	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.S573F|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.S457F|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1157F|ERBB3_ENST00000549832.1_Missense_Mutation_p.S336F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1216					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGCCAAGTTCCCTTGAGGAG	0.532																																																	0													99	86	90					12																	56495457		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3647C>T	12.37:g.56495457C>T	ENSP00000267101:p.Ser1216Phe		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1216F	ENST00000267101.3	37	c.3647	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945582	0.53079	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.81415	-1.31;-1.27;-1.3;-1.49;-1.24	5.63	4.75	0.60458	.	0.000000	0.64402	D	0.000004	T	0.70465	0.3227	L	0.29908	0.895	0.58432	D	0.999995	B;B;B	0.13594	0.008;0.006;0.005	B;B;B	0.16289	0.015;0.008;0.006	T	0.66089	-0.6010	10	0.45353	T	0.12	.	11.7665	0.51933	0.0:0.9176:0.0:0.0824	.	1157;336;1216	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	F	1216;573;1157;339;457;336	ENSP00000267101:S1216F;ENSP00000399178:S573F;ENSP00000408340:S1157F;ENSP00000449129:S457F;ENSP00000448729:S336F	ENSP00000267101:S1216F	S	+	2	0	ERBB3	54781724	1.000000	0.71417	0.984000	0.44739	0.743000	0.42351	3.594000	0.54008	1.387000	0.46486	-0.136000	0.14681	TCC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	C			56495457	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.999	T	T	56495457	C	T	56495457	3	4	151	1	0	0	0	0	1	0	0	0	5220	855	30	1	3888	1	ERBB3	12	56495457	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	260503	56495457	77356438	592	25225										
ERBB3	2065	genome.wustl.edu	37	chr12	56495503	56495503	+	Silent	SNP	C	C	T													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atggatgtggggtcagacctCagtgcctctctgggcagcac							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56495503C>T	ENST00000267101.3	+	28	4133	c.3693C>T	c.(3691-3693)ctC>ctT	p.L1231L	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Silent_p.L588L|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Silent_p.L472L|ERBB3_ENST00000415288.2_Silent_p.L1172L|ERBB3_ENST00000549832.1_Silent_p.L351L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1231					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGTCAGACCTCAGTGCCTCTC	0.532																																																	0													100	82	88					12																	56495503		2203	4300	6503	SO:0001819	synonymous_variant	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3693C>T	12.37:g.56495503C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1231	ENST00000267101.3	37	c.3693	CCDS31833.1	12																																																																																			ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	C			56495503	1	no_errors	ENST00000267101	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56495503	C	T	56495503	2	4	151	1	0	0	0	0	0	0	0	1	5220	813	29	1		1	ERBB3	12	56495503	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	46	56495503	77356392	593	25226	148	2								
ERBB3	2065	genome.wustl.edu	37	chr12	56495513	56495513	+	Missense_Mutation	SNP	C	C	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtcagacctcagtgcctctCtgggcagcacacagagttgc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56495513C>A	ENST00000267101.3	+	28	4143	c.3703C>A	c.(3703-3705)Ctg>Atg	p.L1235M	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.L592M|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.L476M|ERBB3_ENST00000415288.2_Missense_Mutation_p.L1176M|ERBB3_ENST00000549832.1_Missense_Mutation_p.L355M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1235					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGTGCCTCTCTGGGCAGCAC	0.552																																																	0													98	80	86					12																	56495513		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3703C>A	12.37:g.56495513C>A	ENSP00000267101:p.Leu1235Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1235M	ENST00000267101.3	37	c.3703	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125154	0.37533	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.80994	-1.27;-1.22;-1.26;-1.44;-1.2	5.63	4.56	0.56223	.	0.320123	0.23854	N	0.043910	T	0.80325	0.4602	N	0.19112	0.55	0.26494	N	0.974884	D;D;D	0.76494	0.997;0.999;0.995	D;D;P	0.66196	0.931;0.942;0.854	T	0.72293	-0.4336	10	0.49607	T	0.09	.	12.4028	0.55422	0.0:0.9064:0.0:0.0936	.	1176;355;1235	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	M	1235;592;1176;358;476;355	ENSP00000267101:L1235M;ENSP00000399178:L592M;ENSP00000408340:L1176M;ENSP00000449129:L476M;ENSP00000448729:L355M	ENSP00000267101:L1235M	L	+	1	2	ERBB3	54781780	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.340000	0.33896	2.650000	0.89964	0.655000	0.94253	CTG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	C			56495513	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56495513	C	A	56495513	3	1	151	1	0	0	0	0	1	0	0	0	5220	912	32	3	3944	3	ERBB3	12	56495513	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10	56495513	77356382	594	25227	148	2								
RNF41	10193	genome.wustl.edu	37	chr12	56602063	56602063	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcagttatggttgggcagctCatctttgggcatctccaggc	13	10	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56602063C>T	ENST00000345093.4	-	5	751	c.382G>A	c.(382-384)Gag>Aag	p.E128K	RNF41_ENST00000394013.2_Missense_Mutation_p.E57K|RNF41_ENST00000552244.1_Missense_Mutation_p.E128K|RNF41_ENST00000552656.1_Missense_Mutation_p.E128K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	128					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TTGGGCAGCTCATCTTTGGGC	0.532																																																	0													117	85	96					12																	56602063		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.382G>A	12.37:g.56602063C>T	ENSP00000342755:p.Glu128Lys		A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E128K	ENST00000345093.4	37	c.382	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.406694	0.96051	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656;ENST00000551711;ENST00000552244;ENST00000549038	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	4.93	4.93	0.64822	TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.051017	0.85682	D	0.000000	T	0.53061	0.1773	M	0.83692	2.655	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.64144	0.878;0.922	T	0.57452	-0.7809	10	0.56958	D	0.05	-17.6985	17.4472	0.87581	0.0:1.0:0.0:0.0	.	115;128	B4E353;Q9H4P4	.;RNF41_HUMAN	K	128;57;115;128;57;128;128	ENSP00000342755:E128K;ENSP00000377581:E57K;ENSP00000447303:E128K;ENSP00000450164:E57K;ENSP00000448187:E128K;ENSP00000446595:E128K	ENSP00000342755:E128K	E	-	1	0	RNF41	54888330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.587000	0.82613	2.749000	0.94314	0.655000	0.94253	GAG	RNF41	-	superfamily_TRAF-like,pfscan_Znf_SIAH		0.532	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56602063	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56602063	C	T	56602063	3	4	151	1	0	0	0	0	1	0	0	0	13524	835	29	1	583	1	RNF41	12	56602063	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	106550	56602063	77249832	595	25228										
PAN2	9924	genome.wustl.edu	37	chr12	56718400	56718400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acgagagaggtccaacatgtGaaacaggaagcccagctcac	11	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56718400G>A	ENST00000425394.2	-	11	2069	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y	PAN2_ENST00000548043.1_Missense_Mutation_p.H565Y|PAN2_ENST00000440411.3_Missense_Mutation_p.H565Y|PAN2_ENST00000257931.5_Missense_Mutation_p.H565Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCCAACATGTGAAACAGGAAG	0.498																																																	0													82	76	78					12																	56718400		2203	4300	6503	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1693C>T	12.37:g.56718400G>A	ENSP00000401721:p.His565Tyr			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.H565Y	ENST00000425394.2	37	c.1693	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820231	0.71028	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	M	0.76002	2.32	0.58432	D	0.999995	P;P;P	0.46706	0.724;0.724;0.883	B;B;P	0.49140	0.259;0.259;0.601	T	0.01776	-1.1276	10	0.26408	T	0.33	-18.748	18.1255	0.89584	0.0:0.0:1.0:0.0	.	565;565;565	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	565	ENSP00000401721:H565Y;ENSP00000388231:H565Y;ENSP00000257931:H565Y;ENSP00000449861:H565Y	ENSP00000257931:H565Y	H	-	1	0	PAN2	55004667	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.969000	0.87988	2.650000	0.89964	0.557000	0.71058	CAC	PAN2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.498	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	G	NM_014871		56718400	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56718400	G	A	56718400	3	1	151	1	0	0	0	0	1	0	0	0	11438	1290	45	1	1979	1	PAN2	12	56718400	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	116337	56718400	77133495	596	25229										
STAT6	6778	genome.wustl.edu	37	chr12	57492635	57492635	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggccattccaaggtcataaGaaggcaccatggtaggcatc	12	10	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:57492635G>C	ENST00000300134.3	-	18	2331	c.2006C>G	c.(2005-2007)tCt>tGt	p.S669C	STAT6_ENST00000543873.2_Missense_Mutation_p.S669C|STAT6_ENST00000538913.2_Missense_Mutation_p.S559C|STAT6_ENST00000556155.1_Missense_Mutation_p.S669C|STAT6_ENST00000537215.2_Missense_Mutation_p.S559C|STAT6_ENST00000454075.3_Missense_Mutation_p.S669C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	669					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGGTCATAAGAAGGCACCAT	0.552																																																	0													176	180	179					12																	57492635		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2006C>G	12.37:g.57492635G>C	ENSP00000300134:p.Ser669Cys		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S669C	ENST00000300134.3	37	c.2006	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849825	0.51270	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.92397	-2.8;-3.03;-2.8;-2.8;-3.03;-2.8;-1.23	5.91	5.02	0.67125	.	0.520882	0.19501	N	0.112729	T	0.82167	0.4978	N	0.08118	0	0.25658	N	0.986035	P;P	0.40000	0.698;0.698	B;B	0.33196	0.159;0.159	T	0.76675	-0.2872	10	0.66056	D	0.02	-1.7975	13.1447	0.59454	0.0:0.1602:0.8398:0.0	.	669;669	A8K4S9;P42226	.;STAT6_HUMAN	C	669;559;559;669;669;559;669;559;97;669	ENSP00000300134:S669C;ENSP00000445409:S559C;ENSP00000438451:S669C;ENSP00000451742:S669C;ENSP00000444530:S559C;ENSP00000401486:S669C;ENSP00000450428:S97C	ENSP00000300134:S669C	S	-	2	0	STAT6	55778902	0.744000	0.28250	0.788000	0.31933	0.945000	0.59286	2.375000	0.44283	1.504000	0.48704	0.655000	0.94253	TCT	STAT6	-	NULL		0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	G	NM_003153		57492635	-1	no_errors	ENST00000300134	ensembl	human	known	70_37	missense	SNP	0.975	C	C	57492635	G	C	57492635	3	2	151	1	0	0	0	0	1	0	0	0	15300	942	33	1	557	1	STAT6	12	57492635	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	774235	57492635	76359260	597	25230										
STAT6	6778	genome.wustl.edu	37	chr12	57493155	57493155	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgagcaagatcccggattcGgtcccccagtgagcgaatgg	13	12	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:57493155G>A	ENST00000300134.3	-	16	2138	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	STAT6_ENST00000543873.2_Nonsense_Mutation_p.R605*|STAT6_ENST00000538913.2_Nonsense_Mutation_p.R495*|STAT6_ENST00000556155.1_Nonsense_Mutation_p.R605*|STAT6_ENST00000537215.2_Nonsense_Mutation_p.R495*|STAT6_ENST00000454075.3_Nonsense_Mutation_p.R605*	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	605	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCCCGGATTCGGTCCCCCAGT	0.537																																																	0													97	99	98					12																	57493155		2203	4300	6503	SO:0001587	stop_gained	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1813C>T	12.37:g.57493155G>A	ENSP00000300134:p.Arg605*		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R605*	ENST00000300134.3	37	c.1813	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.183177	0.98693	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	.	.	.	4.47	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1826	11.6553	0.51315	0.0:0.0:0.8212:0.1788	.	.	.	.	X	605;495;495;605;605;495;605;495;33;605	.	ENSP00000300134:R605X	R	-	1	2	STAT6	55779422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.234000	0.65343	1.198000	0.43158	0.561000	0.74099	CGA	STAT6	-	pfam_SH2,smart_SH2,pfscan_SH2		0.537	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	G	NM_003153		57493155	-1	no_errors	ENST00000300134	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	57493155	G	A	57493155	4	1	151	1	0	0	0	0	0	1	0	0	15300	1124	39	2	758	2	STAT6	12	57493155	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	520	57493155	76358740	598	25231										
MARS	4141	genome.wustl.edu	37	chr12	57906742	57906742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aacaacctgggcaacttcatCaacaggtaggacttggtaag	10	9	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:57906742C>T	ENST00000262027.5	+	15	2096	c.1962C>T	c.(1960-1962)atC>atT	p.I654I	MARS_ENST00000315473.5_Silent_p.I420I|RNU6-594P_ENST00000517056.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	654					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCAACTTCATCAACAGGTAGG	0.522																																																	0													89	85	87					12																	57906742		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1962C>T	12.37:g.57906742C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.I654	ENST00000262027.5	37	c.1962	CCDS8942.1	12																																																																																			MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth		0.522	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57906742	1	no_errors	ENST00000262027	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57906742	C	T	57906742	2	4	151	1	0	0	0	0	0	0	0	1	9339	816	29	1		1	MARS	12	57906742	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	413587	57906742	75945153	599	25232										
GRIP1	23426	genome.wustl.edu	37	chr12	66800072	66800072	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctctcaatacctgaattatCttcatctttgcggattttga	6	9	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:66800072C>T	ENST00000398016.3	-	15	1887	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D659N|GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000286445.7_Missense_Mutation_p.D659N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTGAATTATCTTCATCTTTG	0.393																																																	0													126	115	118					12																	66800072		1896	4127	6023	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1819G>A	12.37:g.66800072C>T	ENSP00000381098:p.Asp607Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D659N	ENST00000398016.3	37	c.1975	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657889	0.88154	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.01;2.07;2.09	5.48	5.48	0.80851	PDZ/DHR/GLGF (1);	0.044111	0.85682	D	0.000000	T	0.47488	0.1448	M	0.68317	2.08	0.58432	D	0.999999	P;P;P;D	0.71674	0.934;0.925;0.875;0.998	P;P;P;D	0.85130	0.887;0.802;0.863;0.997	T	0.23476	-1.0187	9	.	.	.	-16.8167	19.7268	0.96166	0.0:1.0:0.0:0.0	.	607;659;607;659	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	N	607;659;659;607;551;499	ENSP00000381098:D607N;ENSP00000352780:D659N;ENSP00000286445:D659N;ENSP00000446047:D607N;ENSP00000446024:D551N;ENSP00000446011:D499N	.	D	-	1	0	GRIP1	65086339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.074000	0.71253	2.739000	0.93911	0.491000	0.48974	GAT	GRIP1	-	superfamily_PDZ		0.393	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66800072	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66800072	C	T	66800072	3	4	151	1	0	0	0	0	1	0	0	0	6807	913	32	1	1451	1	GRIP1	12	66800072	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8893330	66800072	67051823	600	25233										
NAV3	89795	genome.wustl.edu	37	chr12	78334875	78334875	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctttagcaaatgaaaaagttGaagatatcaatggatgtcct	8	5	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:78334875G>A	ENST00000397909.2	+	3	549	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	NAV3_ENST00000536525.2_Missense_Mutation_p.E126K|NAV3_ENST00000228327.6_Missense_Mutation_p.E126K|NAV3_ENST00000266692.7_Missense_Mutation_p.E126K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	126	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGAAAAAGTTGAAGATATCAA	0.318										HNSCC(70;0.22)																																							0													76	75	75					12																	78334875		1810	4089	5899	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.376G>A	12.37:g.78334875G>A	ENSP00000381007:p.Glu126Lys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E126K	ENST00000397909.2	37	c.376		12	.	.	.	.	.	.	.	.	.	.	G	33	5.209965	0.95069	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.39210	U	0.001430	D	0.95468	0.8528	L	0.31420	0.93	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.80764	0.994;0.992	D	0.95431	0.8516	10	0.48119	T	0.1	-22.2587	19.5379	0.95262	0.0:0.0:1.0:0.0	.	126;126	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	K	126	ENSP00000446628:E126K;ENSP00000446132:E126K;ENSP00000381007:E126K;ENSP00000228327:E126K;ENSP00000266692:E126K	ENSP00000228327:E126K	E	+	1	0	NAV3	76859006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.584000	0.98220	2.621000	0.88768	0.551000	0.68910	GAA	NAV3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.318	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78334875	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78334875	G	A	78334875	3	1	151	1	0	0	0	0	1	0	0	0	10208	1291	45	1	386	1	NAV3	12	78334875	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11534803	78334875	55517020	601	25234										
PPP1R12A	4659	genome.wustl.edu	37	chr12	80191034	80191034	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttctctagatgtttctgactCcttcttttcttcttgtttct	4	10	6	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:80191034C>G	ENST00000450142.2	-	16	2499	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E745Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E658Q|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E745Q|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E689Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	745	Glu/Lys-rich.|Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTTTCTGActccttcttttct	0.333																																																	0													239	204	215					12																	80191034		1847	4087	5934	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2233G>C	12.37:g.80191034C>G	ENSP00000389168:p.Glu745Gln		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E745Q	ENST00000450142.2	37	c.2233	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.604025|3.604025	0.66445|0.66445	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330|ENST00000553081	T;T;T;T;T;T|.	0.47177|.	1.19;1.19;1.23;1.21;1.15;0.85|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.131590|.	0.49916|.	D|.	0.000130|.	T|T	0.70640|0.70640	0.3247|0.3247	L|L	0.50333|0.50333	1.59|1.59	0.50632|0.50632	D|D	0.999881|0.999881	P;D;P;P|.	0.54964|.	0.939;0.969;0.939;0.948|.	P;P;P;P|.	0.55824|.	0.528;0.785;0.662;0.614|.	T|T	0.66456|0.66456	-0.5919|-0.5919	10|5	0.21014|.	T|.	0.42|.	.|.	19.2166|19.2166	0.93781|0.93781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	686;745;689;745|.	F8W8Q6;O14974-2;O14974-3;O14974|.	.;.;.;MYPT1_HUMAN|.	Q|S	745;745;745;689;686;745;745;658;689;686|336	ENSP00000261207:E745Q;ENSP00000389168:E745Q;ENSP00000416769:E745Q;ENSP00000449514:E658Q;ENSP00000446855:E689Q;ENSP00000446816:E686Q|.	ENSP00000261207:E745Q|.	E|R	-|-	1|3	0|2	PPP1R12A|PPP1R12A	78715165|78715165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.501000|5.501000	0.66950|0.66950	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|AGG	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.333	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80191034	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80191034	C	G	80191034	3	3	151	1	0	0	0	0	1	0	0	0	12381	864	30	1	899	1	PPP1R12A	12	80191034	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1856159	80191034	53660861	602	25235										
TMTC3	160418	genome.wustl.edu	37	chr12	88589037	88589037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgtttattttgaagaaaaaGacttattaaaagctgaaaga	7	2	0	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:88589037G>C	ENST00000266712.6	+	14	2576	c.2356G>C	c.(2356-2358)Gac>Cac	p.D786H		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	787					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGAAGAAAAAGACTTATTAAA	0.338																																																	0													58	62	61					12																	88589037		2203	4298	6501	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2356G>C	12.37:g.88589037G>C	ENSP00000266712:p.Asp786His		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D786H	ENST00000266712.6	37	c.2356	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295983	0.81025	.	.	ENSG00000139324	ENST00000266712	T	0.76186	-1.0	5.69	5.69	0.88448	.	0.087632	0.85682	D	0.000000	T	0.80502	0.4635	M	0.64997	1.995	0.80722	D	1	P	0.39003	0.654	P	0.46940	0.532	T	0.80412	-0.1393	10	0.56958	D	0.05	-8.5105	19.7954	0.96478	0.0:0.0:1.0:0.0	.	786	Q6ZXV5-2	.	H	786	ENSP00000266712:D786H	ENSP00000266712:D786H	D	+	1	0	TMTC3	87113168	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.785000	0.99042	2.685000	0.91497	0.591000	0.81541	GAC	TMTC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	G	NM_181783		88589037	1	no_errors	ENST00000266712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88589037	G	C	88589037	3	2	151	1	0	0	0	0	1	0	0	0	16292	942	33	1	2406	1	TMTC3	12	88589037	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8398003	88589037	45262858	603	25236										
GALNT4	8693	genome.wustl.edu	37	chr12	89917392	89917392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcttgctgacagcaaacagtCctccagccatggtaggtgat	10	11	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:89917392C>T	ENST00000529983.2	-	1	1191	c.935G>A	c.(934-936)gGa>gAa	p.G312E	POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G309E|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G140E|POC1B-GALNT4_ENST00000547474.1_3'UTR	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	312	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AGCAAACAGTCCTCCAGCCAT	0.473																																																	0													132	131	131					12																	89917392		1968	4158	6126	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.935G>A	12.37:g.89917392C>T	ENSP00000436604:p.Gly312Glu		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G312E	ENST00000529983.2	37	c.935	CCDS53817.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712589	0.89112	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.90844	0.04;-2.74;0.04	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.97259	0.9104	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98068	1.0397	9	0.87932	D	0	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	309;312	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	E	309;140;312	ENSP00000447852:G309E;ENSP00000389686:G140E;ENSP00000436604:G312E	ENSP00000436604:G312E	G	-	2	0	GALNT4;RP11-1109F11.4	88441523	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	GGA	GALNT4	-	pfam_Glyco_trans_2		0.473	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT4	HGNC	protein_coding	OTTHUMT00000388973.2	C	NM_003774		89917392	-1	no_errors	ENST00000529983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89917392	C	T	89917392	3	4	151	1	0	0	0	0	1	0	0	0	6234	855	30	1	805	1	GALNT4	12	89917392	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1328355	89917392	43934503	604	25237										
NTN4	59277	genome.wustl.edu	37	chr12	96131685	96131685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttgacaggtctgaagccatGaacaggtatgcattgatcag	11	8	2	4	rs193920922		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:96131685G>A	ENST00000343702.4	-	3	1271	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.H275Y|NTN4_ENST00000344911.4_Missense_Mutation_p.H238Y|NTN4_ENST00000538383.1_Missense_Mutation_p.H238Y	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	275	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTGAAGCCATGAACAGGTATG	0.453																																																	0													115	100	105					12																	96131685		2203	4300	6503	SO:0001583	missense	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.823C>T	12.37:g.96131685G>A	ENSP00000340998:p.His275Tyr		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.H275Y	ENST00000343702.4	37	c.823	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593893	0.28445	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.36878	1.26;1.23;1.23;1.29	5.4	3.56	0.40772	EGF-like, laminin (3);	0.737320	0.13728	N	0.366869	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.24882	0.005;0.113	B;B	0.22753	0.002;0.041	T	0.13282	-1.0515	10	0.66056	D	0.02	.	6.411	0.21690	0.0:0.5259:0.3152:0.1589	.	275;275	Q9HB63-2;Q9HB63	.;NET4_HUMAN	Y	275;238;238;275	ENSP00000340998:H275Y;ENSP00000339436:H238Y;ENSP00000444432:H238Y;ENSP00000447292:H275Y	ENSP00000340998:H275Y	H	-	1	0	NTN4	94655816	0.000000	0.05858	0.999000	0.59377	0.845000	0.48019	-0.117000	0.10708	1.258000	0.44101	-0.321000	0.08615	CAT	NTN4	-	pfam_EGF_laminin,smart_EGF_laminin		0.453	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	G	NM_021229		96131685	-1	no_errors	ENST00000343702	ensembl	human	known	70_37	missense	SNP	0.004	A	A	96131685	G	A	96131685	3	1	151	1	0	0	0	0	1	0	0	0	10726	1290	45	1	1095	1	NTN4	12	96131685	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6214293	96131685	37720210	605	25238										
NTN4	59277	genome.wustl.edu	37	chr12	96131749	96131749	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccttgacaatgaaatcataGattgcatagtgtgtaaaatg	8	6	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:96131749G>A	ENST00000343702.4	-	3	1207	c.759C>T	c.(757-759)atC>atT	p.I253I	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Silent_p.I253I|NTN4_ENST00000344911.4_Silent_p.I216I|NTN4_ENST00000538383.1_Silent_p.I216I	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	253	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGAAATCATAGATTGCATAGT	0.488																																																	0													159	123	136					12																	96131749		2203	4300	6503	SO:0001819	synonymous_variant	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.759C>T	12.37:g.96131749G>A			B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.I253	ENST00000343702.4	37	c.759	CCDS9054.1	12																																																																																			NTN4	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.488	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	G	NM_021229		96131749	-1	no_errors	ENST00000343702	ensembl	human	known	70_37	silent	SNP	1.000	A	A	96131749	G	A	96131749	2	1	151	1	0	0	0	0	0	0	0	1	10726	932	33	1		1	NTN4	12	96131749	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	64	96131749	37720146	606	25239										
IKBIP	121457	genome.wustl.edu	37	chr12	99020541	99020541	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggatgctttcagtagactCaagctgcatttataacacaa	7	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:99020541C>G	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E101Q	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCAGTAGACTCAAGCTGCATT	0.388																																																	0													71	69	70					12																	99020541		2203	4299	6502	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7532G>C	12.37:g.99020541C>G			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E101Q	ENST00000342502.2	37	c.301	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152572	0.38021	.	.	ENSG00000166130	ENST00000299157	T	0.53206	0.63	5.82	5.82	0.92795	.	0.686003	0.15243	N	0.272774	T	0.46541	0.1398	.	.	.	0.80722	D	1	P	0.50617	0.937	P	0.46850	0.529	T	0.17684	-1.0361	9	0.27082	T	0.32	-13.8107	13.3203	0.60428	0.0:0.928:0.0:0.072	.	101	Q70UQ0-4	.	Q	101	ENSP00000299157:E101Q	ENSP00000299157:E101Q	E	-	1	0	IKBIP	97544672	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.915000	0.63355	2.748000	0.94277	0.655000	0.94253	GAG	IKBIP	-	NULL		0.388	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99020541	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99020541	C	G	99020541	1	3	151	0	1	0	0	0	0	0	0	0	7629	835	29	1		1	IKBIP	12	99020541	Intron	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2888792	99020541	34831354	607	25240										
ACTR6	64431	genome.wustl.edu	37	chr12	100603861	100603861	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttaaatagctggggctctCagtgcacataggtatttccg	10	8	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:100603861C>G	ENST00000188312.2	+	5	1155	c.390C>G	c.(388-390)ctC>ctG	p.L130L	ACTR6_ENST00000551617.1_Silent_p.L48L|ACTR6_ENST00000546902.1_Silent_p.L48L|ACTR6_ENST00000552376.1_Silent_p.L130L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	130						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CTGGGGCTCTCAGTGCACATA	0.318																																																	0													98	94	95					12																	100603861		2203	4296	6499	SO:0001819	synonymous_variant	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.390C>G	12.37:g.100603861C>G			B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.L130	ENST00000188312.2	37	c.390	CCDS9074.1	12																																																																																			ACTR6	-	pfam_Actin-like,smart_Actin-like		0.318	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	C	NM_022496		100603861	1	no_errors	ENST00000188312	ensembl	human	known	70_37	silent	SNP	0.996	G	G	100603861	C	G	100603861	2	3	151	1	0	0	0	0	0	0	0	1	216	813	29	1		1	ACTR6	12	100603861	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1583320	100603861	33248034	608	25241										
C12orf48	55010	genome.wustl.edu	37	chr12	102558365	102558366	+	Frame_Shift_Ins	INS	-	-	A													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgaaacatgctgctcgagagINSaaacaaatgtctatcttttt							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:102558365_102558366insA	ENST00000358383.5	+	5	690_691	c.645_646insA	c.(646-648)aaafs	p.K216fs	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Frame_Shift_Ins_p.K102fs|PARPBP_ENST00000378128.3_Frame_Shift_Ins_p.K216fs|PARPBP_ENST00000541394.1_Frame_Shift_Ins_p.K293fs|PARPBP_ENST00000327680.2_Frame_Shift_Ins_p.K135fs|PARPBP_ENST00000392911.2_Frame_Shift_Ins_p.K135fs			Q9NWS1	PARI_HUMAN	PARP1 binding protein	216					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CTGCTCGAGAGAAACAAATGTC	0.386																																																	0																																										SO:0001589	frameshift_variant	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.648dupA	12.37:g.102558368_102558368dupA	ENSP00000351153:p.Lys216fs		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Frame_Shift_Ins	INS	NULL	p.Q216fs	ENST00000358383.5	37	c.645_646	CCDS9090.2	12																																																																																			PARPBP	-	NULL		0.386	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	-	NM_017915		102558366	1	no_errors	ENST00000358383	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	102558366	-	A	102558365	7	5	151	1	0	1	1	0	0	0	0	0	1696	933	33	0	412	0	C12orf48	12	102558365	Frame_Shift_Ins	INS	-	TCGA-IR-A3LH-01A-21D-A20U-09	1954504	102558365	31293530	609	25242										
CKAP4	10970	genome.wustl.edu	37	chr12	106633846	106633846	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcctcttctggacttctgtGaagatggcgatgttgtcgtt	11	9	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:106633846G>A	ENST00000378026.4	-	2	901	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	255						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGACTTCTGTGAAGATGGCGA	0.547																																																	0													144	132	136					12																	106633846		2203	4300	6503	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.765C>T	12.37:g.106633846G>A			Q504S5|Q53ES6	Silent	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.F255	ENST00000378026.4	37	c.765	CCDS9103.1	12																																																																																			CKAP4	-	NULL		0.547	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	G			106633846	-1	no_errors	ENST00000378026	ensembl	human	known	70_37	silent	SNP	1.000	A	A	106633846	G	A	106633846	2	1	151	1	0	0	0	0	0	0	0	1	3449	1281	45	1		1	CKAP4	12	106633846	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4075481	106633846	27218049	610	25243										
BTBD11	121551	genome.wustl.edu	37	chr12	107937845	107937845	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtacaccctttgctatttCatgcactgcccacaaatgga	6	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:107937845C>T	ENST00000280758.5	+	3	1947	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	BTBD11_ENST00000420571.2_Silent_p.F473F|BTBD11_ENST00000490090.2_Silent_p.F473F	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	473						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTTGCTATTTCATGCACTGCC	0.572																																																	0													73	64	67					12																	107937845		2203	4300	6503	SO:0001819	synonymous_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1419C>T	12.37:g.107937845C>T			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.F473	ENST00000280758.5	37	c.1419	CCDS31893.1	12																																																																																			BTBD11	-	NULL		0.572	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		107937845	1	no_errors	ENST00000280758	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107937845	C	T	107937845	2	4	151	1	0	0	0	0	0	0	0	1	1542	825	29	1		1	BTBD11	12	107937845	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1303999	107937845	25914050	611	25244										
PRDM4	11108	genome.wustl.edu	37	chr12	108128300	108128300	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacacttgatctggcgttctCtaagaggaacacaagaaaaa	9	8	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:108128300C>G	ENST00000228437.5	-	12	2553		c.e12-1		RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4						cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CTGGCGTTCTCTAAGAGGAAC	0.403																																																	0													114	115	114					12																	108128300		2203	4300	6503	SO:0001630	splice_region_variant	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2094-1G>C	12.37:g.108128300C>G			Q9UFA6	Splice_Site	SNP	-	e11-1	ENST00000228437.5	37	c.2094-1	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698052	0.88830	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM4	106652430	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.868000	0.98415	0.555000	0.69702	.	PRDM4	-	-		0.403	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1	C	NM_012406	Intron	108128300	-1	no_errors	ENST00000228437	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	108128300	C	G	108128300	5	3	151	1	0	0	0	0	0	0	1	0	12486	927	32	1	316	1	PRDM4	12	108128300	Splice_Site	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	190455	108128300	25723595	612	25245										
TCHP	84260	genome.wustl.edu	37	chr12	110346483	110346483	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgaaagcagatggaagccttCcggcagaaggcagagctggg	16	9	0	3	rs568991965		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:110346483C>T	ENST00000312777.5	+	7	1006	c.792C>T	c.(790-792)ttC>ttT	p.F264F	TCHP_ENST00000405876.4_Silent_p.F264F	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TGGAAGCCTTCCGGCAGAAGG	0.567													C|||	1	0.000199681	0	0.0014	5008	,	,		17272	0		0	False		,,,				2504	0																0													51	52	52					12																	110346483		2202	4297	6499	SO:0001819	synonymous_variant	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.792C>T	12.37:g.110346483C>T				Silent	SNP	NULL	p.F264	ENST00000312777.5	37	c.792	CCDS9137.1	12																																																																																			TCHP	-	NULL		0.567	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	C	NM_032300		110346483	1	no_errors	ENST00000312777	ensembl	human	known	70_37	silent	SNP	0.271	T	T	110346483	C	T	110346483	2	4	151	1	0	0	0	0	0	0	0	1	15732	854	30	1		1	TCHP	12	110346483	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2218183	110346483	23505412	613	25246										
IFT81	28981	genome.wustl.edu	37	chr12	110630459	110630459	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attggtatctgaaaagaagtCagctcttgcctcagttataa	8	7	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:110630459C>T	ENST00000242591.5	+	14	2011	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	IFT81_ENST00000552912.1_Missense_Mutation_p.S502L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	502					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GAAAAGAAGTCAGCTCTTGCC	0.269																																																	0													83	80	81					12																	110630459		1794	4060	5854	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1505C>T	12.37:g.110630459C>T	ENSP00000242591:p.Ser502Leu		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.S502L	ENST00000242591.5	37	c.1505	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000858	0.93227	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.14022	2.54;2.54	5.93	5.93	0.95920	.	0.117165	0.64402	D	0.000011	T	0.24084	0.0583	M	0.68317	2.08	0.80722	D	1	P	0.35944	0.529	B	0.39840	0.311	T	0.00561	-1.1670	10	0.40728	T	0.16	-9.6333	20.3368	0.98748	0.0:1.0:0.0:0.0	.	502	Q8WYA0	IFT81_HUMAN	L	502	ENSP00000449718:S502L;ENSP00000242591:S502L	ENSP00000242591:S502L	S	+	2	0	IFT81	109114842	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.169000	0.77578	2.805000	0.96524	0.655000	0.94253	TCA	IFT81	-	NULL		0.269	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	C	NM_014055		110630459	1	no_errors	ENST00000242591	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110630459	C	T	110630459	3	4	151	1	0	0	0	0	1	0	0	0	7585	838	29	1	1667	1	IFT81	12	110630459	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	283976	110630459	23221436	614	25247										
C12orf51	283450	genome.wustl.edu	37	chr12	112608139	112608139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccgcagccaaccccacctCccacaatttccagtgggtcc	6	20	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:112608139C>T	ENST00000430131.2	-	68	11929	c.10784G>A	c.(10783-10785)gGa>gAa	p.G3595E	HECTD4_ENST00000377560.5_Missense_Mutation_p.G3845E|HECTD4_ENST00000550722.1_Missense_Mutation_p.G3871E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3595					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AACCCCACCTCCCACAATTTC	0.552																																																	0													52	54	53					12																	112608139		1992	4179	6171	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10784G>A	12.37:g.112608139C>T	ENSP00000404379:p.Gly3595Glu		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G3845E	ENST00000430131.2	37	c.11534		12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005461	0.93287	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45668	0.89;0.9;0.89	5.98	5.98	0.97165	.	.	.	.	.	T	0.48589	0.1508	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57510	-0.7799	9	0.54805	T	0.06	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	3595	Q9Y4D8	K0614_HUMAN	E	3845;3595;3871	ENSP00000366783:G3845E;ENSP00000404379:G3595E;ENSP00000449784:G3871E	ENSP00000366783:G3845E	G	-	2	0	C12orf51	111092522	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	GGA	HECTD4	-	NULL		0.552	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112608139	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112608139	C	T	112608139	3	4	151	1	0	0	0	0	1	0	0	0	1700	855	30	1	1238	1	C12orf51	12	112608139	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1977680	112608139	21243756	615	25248										
OAS3	4940	genome.wustl.edu	37	chr12	113388505	113388505	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttccctccacaggggggctCatttggccggggcacagacc	13	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:113388505C>T	ENST00000228928.7	+	7	1561	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	461	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CAGGGGGGCTCATTTGGCCGG	0.602																																																	0													117	123	121					12																	113388505		1923	4137	6060	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1382C>T	12.37:g.113388505C>T	ENSP00000228928:p.Ser461Leu		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.S461L	ENST00000228928.7	37	c.1382	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573445	0.65765	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.36520	1.25	4.26	4.26	0.50523	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	.	.	.	.	T	0.61739	0.2371	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.68198	-0.5472	9	0.87932	D	0	.	12.0286	0.53386	0.0:1.0:0.0:0.0	.	461	Q9Y6K5	OAS3_HUMAN	L	461;460	ENSP00000228928:S461L	ENSP00000228928:S461L	S	+	2	0	OAS3	111872888	0.980000	0.34600	0.935000	0.37517	0.625000	0.37756	3.228000	0.51270	2.196000	0.70406	0.655000	0.94253	TCA	OAS3	-	pfscan_2-5-oligoadenylate_synth_N		0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	C			113388505	1	no_errors	ENST00000228928	ensembl	human	known	70_37	missense	SNP	0.184	T	T	113388505	C	T	113388505	3	4	151	1	0	0	0	0	1	0	0	0	10825	838	29	1	1408	1	OAS3	12	113388505	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	780366	113388505	20463390	616	25249										
TAOK3	51347	genome.wustl.edu	37	chr12	118590140	118590140	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attttgctctggtaggcgttGagcagctccatttcctgctg	11	10	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:118590140G>A	ENST00000392533.3	-	20	2917	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	TAOK3_ENST00000419821.2_Silent_p.L809L|TAOK3_ENST00000536979.1_Silent_p.L4L|TAOK3_ENST00000537952.1_Silent_p.L349L|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	809					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTAGGCGTTGAGCAGCTCCA	0.532																																																	0													178	132	148					12																	118590140		2203	4300	6503	SO:0001819	synonymous_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2427C>T	12.37:g.118590140G>A			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L809	ENST00000392533.3	37	c.2427	CCDS9188.1	12																																																																																			TAOK3	-	NULL		0.532	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	G	NM_016281		118590140	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	silent	SNP	1.000	A	A	118590140	G	A	118590140	2	1	151	1	0	0	0	0	0	0	0	1	15579	1277	45	1		1	TAOK3	12	118590140	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5201635	118590140	15261755	617	25250										
SIRT4	23409	genome.wustl.edu	37	chr12	120750454	120750454	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggccatctgaaaccagatgtCgttttcttcggggacacagt	11	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:120750454C>G	ENST00000202967.4	+	3	752	c.693C>G	c.(691-693)gtC>gtG	p.V231V	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCAGATGTCGTTTTCTTCG	0.532																																																	0													72	66	68					12																	120750454		2203	4300	6503	SO:0001819	synonymous_variant	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.693C>G	12.37:g.120750454C>G				Silent	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.V231	ENST00000202967.4	37	c.693	CCDS9194.1	12																																																																																			SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.532	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120750454	1	no_errors	ENST00000202967	ensembl	human	known	70_37	silent	SNP	1.000	G	G	120750454	C	G	120750454	2	3	151	1	0	0	0	0	0	0	0	1	14370	871	31	1		1	SIRT4	12	120750454	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2160314	120750454	13101441	618	25251										
SFRS9	8683	genome.wustl.edu	37	chr12	120903459	120903459	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaactcggaaatcagatcttCttgtaggaggcccattcctc	9	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:120903459C>G	ENST00000229390.3	-	2	503	c.320G>C	c.(319-321)aGa>aCa	p.R107T		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	107					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						ATCAGATCTTCTTGTAGGAGG	0.473																																																	0													61	60	60					12																	120903459		2203	4300	6503	SO:0001583	missense	8683			U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10791	protein-coding gene	gene with protein product	"SR splicing factor 9"	601943	"splicing factor, arginine/serine-rich 9"	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.320G>C	12.37:g.120903459C>G	ENSP00000229390:p.Arg107Thr		Q52LD1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R107T	ENST00000229390.3	37	c.320	CCDS9199.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370058	0.82573	.	.	ENSG00000111786	ENST00000229390	T	0.09538	2.97	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.985	D;P	0.76071	0.987;0.821	T	0.00406	-1.1759	10	0.41790	T	0.15	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	107;107	B4DFT9;Q13242	.;SRSF9_HUMAN	T	107	ENSP00000229390:R107T	ENSP00000229390:R107T	R	-	2	0	SRSF9	119387842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.909000	0.75735	2.752000	0.94435	0.557000	0.71058	AGA	SRSF9	-	NULL		0.473	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF9	HGNC	protein_coding	OTTHUMT00000108983.2	C	NM_003769		120903459	-1	no_errors	ENST00000229390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120903459	C	G	120903459	3	3	151	1	0	0	0	0	1	0	0	0	14214	913	32	1	357	1	SFRS9	12	120903459	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	153005	120903459	12948436	619	25252										
RNF10	9921	genome.wustl.edu	37	chr12	121000862	121000862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggcgaaggagtctgtttttCaacccaggaaggttagtgtg	14	6	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:121000862C>G	ENST00000325954.4	+	8	1704	c.1243C>G	c.(1243-1245)Caa>Gaa	p.Q415E	RNF10_ENST00000413266.2_Missense_Mutation_p.Q415E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	415					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTGTTTTTCAACCCAGGAA	0.512																																																	0													140	128	132					12																	121000862		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1243C>G	12.37:g.121000862C>G	ENSP00000322242:p.Gln415Glu		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q415E	ENST00000325954.4	37	c.1243	CCDS9201.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.13|15.13	2.743037|2.743037	0.49151|0.49151	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000537740|ENST00000325954;ENST00000458409;ENST00000413266	T|D;D	0.27890|0.88431	1.64|-2.36;-2.38	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.541831	.|0.20308	.|N	.|0.094885	D|D	0.83229|0.83229	0.5209|0.5209	L|L	0.42245|0.42245	1.32|1.32	0.35000|0.35000	D|D	0.755863|0.755863	.|B;B	.|0.27068	.|0.167;0.039	.|B;B	.|0.27380	.|0.079;0.031	T|T	0.79569|0.79569	-0.1749|-0.1749	7|10	0.02654|0.07644	T|T	1|0.81	.|.	14.0249|14.0249	0.64580|0.64580	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415;415	.|Q8N5U6-2;Q8N5U6	.|.;RNF10_HUMAN	L|E	92|415	ENSP00000437392:F92L|ENSP00000322242:Q415E;ENSP00000415682:Q415E	ENSP00000437392:F92L|ENSP00000322242:Q415E	F|Q	+|+	3|1	2|0	RNF10|RNF10	119485245|119485245	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.994000|0.994000	0.84299|0.84299	3.444000|3.444000	0.52914|0.52914	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	TTC|CAA	RNF10	-	NULL		0.512	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	C			121000862	1	no_errors	ENST00000413266	ensembl	human	known	70_37	missense	SNP	0.993	G	G	121000862	C	G	121000862	3	3	151	1	0	0	0	0	1	0	0	0	13452	827	29	1	1273	1	RNF10	12	121000862	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	97403	121000862	12851033	620	25253										
CAMKK2	10645	genome.wustl.edu	37	chr12	121682976	121682976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggcgctgacagtgagcgtTcctcccgccggctgccctcg	13	17	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:121682976T>C	ENST00000324774.5	-	15	2348	c.1520A>G	c.(1519-1521)gAa>gGa	p.E507G	CAMKK2_ENST00000545538.1_Missense_Mutation_p.E294G|CAMKK2_ENST00000347034.2_Missense_Mutation_p.E464G|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E507G|CAMKK2_ENST00000404169.3_Missense_Mutation_p.E507G|CAMKK2_ENST00000446440.2_Missense_Mutation_p.E464G|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E507G|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E507G|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E464G|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E507G|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E507G	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	507					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGTGAGCGTTCCTCCCGCCG	0.612																																																	0													67	54	59					12																	121682976		2203	4300	6503	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1520A>G	12.37:g.121682976T>C	ENSP00000312741:p.Glu507Gly		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	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.E507G	ENST00000324774.5	37	c.1520	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464852	0.43839	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	4.93	4.93	0.64822	.	0.058200	0.64402	D	0.000002	T	0.39600	0.1084	L	0.38175	1.15	0.58432	D	0.999993	B;B;B;B;B;B;B;B	0.14438	0.01;0.002;0.002;0.003;0.009;0.007;0.002;0.002	B;B;B;B;B;B;B;B	0.23275	0.045;0.013;0.013;0.005;0.03;0.02;0.006;0.008	T	0.19128	-1.0315	10	0.32370	T	0.25	17.421	13.7521	0.62915	0.0:0.0:0.0:1.0	.	464;507;507;294;464;464;507;507	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	G	507;464;464;507;507;294;507;507;490;464;507	ENSP00000376266:E507G;ENSP00000321230:E464G;ENSP00000445944:E464G;ENSP00000336634:E507G;ENSP00000312741:E507G;ENSP00000441352:E294G;ENSP00000388368:E507G;ENSP00000384600:E507G;ENSP00000388273:E464G;ENSP00000376265:E507G	ENSP00000312741:E507G	E	-	2	0	CAMKK2	120167359	1.000000	0.71417	0.998000	0.56505	0.411000	0.31082	4.756000	0.62205	1.856000	0.53863	0.459000	0.35465	GAA	CAMKK2	-	NULL		0.612	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	T	NM_172226		121682976	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121682976	T	C	121682976	3	2	151	1	0	0	0	0	1	0	0	0	2612	1783	62	5	268	5	CAMKK2	12	121682976	Missense_Mutation	SNP	T	TCGA-IR-A3LH-01A-21D-A20U-09	682114	121682976	12168919	621	25254										
KNTC1	9735	genome.wustl.edu	37	chr12	123069534	123069534	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatgactgtggaatcctcatGaaagtaagttacttttgagt	10	5	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:123069534G>T	ENST00000333479.7	+	36	3708	c.3531G>T	c.(3529-3531)atG>atT	p.M1177I	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1177					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAATCCTCATGAAAGTAAGTT	0.378																																																	0													68	64	66					12																	123069534		1832	4094	5926	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3531G>T	12.37:g.123069534G>T	ENSP00000328236:p.Met1177Ile		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.M1177I	ENST00000333479.7	37	c.3531	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736448	0.15574	.	.	ENSG00000184445	ENST00000333479	T	0.14022	2.54	5.91	2.77	0.32553	.	0.344763	0.33772	N	0.004564	T	0.09024	0.0223	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.20009	-1.0288	10	0.20519	T	0.43	-6.1184	5.2058	0.15289	0.4991:0.0:0.5009:0.0	.	1177	P50748	KNTC1_HUMAN	I	1177	ENSP00000328236:M1177I	ENSP00000328236:M1177I	M	+	3	0	KNTC1	121635487	1.000000	0.71417	0.940000	0.37924	0.008000	0.06430	0.841000	0.27613	0.846000	0.35142	-0.140000	0.14226	ATG	KNTC1	-	NULL		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123069534	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123069534	G	T	123069534	3	4	151	1	0	0	0	0	1	0	0	0	8448	1290	45	3	3669	3	KNTC1	12	123069534	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1386558	123069534	10782361	622	25255										
RILPL1	353116	genome.wustl.edu	37	chr12	123983273	123983273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtgacccggtgccgaaggtCatggttgatcttcatcagcc	12	12	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:123983273C>G	ENST00000376874.4	-	4	854	c.619G>C	c.(619-621)Gac>Cac	p.D207H	RILPL1_ENST00000340724.6_Missense_Mutation_p.D55H	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	207					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TGCCGAAGGTCATGGTTGATC	0.582																																																	0													91	91	91					12																	123983273		2012	4186	6198	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.619G>C	12.37:g.123983273C>G	ENSP00000366070:p.Asp207His		Q66K36|Q8N1M0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,pfam_RILP	p.D207H	ENST00000376874.4	37	c.619	CCDS45006.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.073245	0.94000	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.22743	1.94;1.94	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.953;0.961	T	0.53535	-0.8425	10	0.87932	D	0	-7.4116	19.184	0.93635	0.0:1.0:0.0:0.0	.	183;207;56	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	H	207;55	ENSP00000366070:D207H;ENSP00000345874:D55H	ENSP00000345874:D55H	D	-	1	0	RILPL1	122549226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.614000	0.88457	0.561000	0.74099	GAC	RILPL1	-	NULL		0.582	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL1	HGNC	protein_coding	OTTHUMT00000400595.1	C	NM_178314		123983273	-1	no_errors	ENST00000376874	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123983273	C	G	123983273	3	3	151	1	0	0	0	0	1	0	0	0	13391	826	29	1	608	1	RILPL1	12	123983273	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	913739	123983273	9868622	623	25256										
DNAH10	196385	genome.wustl.edu	37	chr12	124272480	124272480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagatcggtgggagtttgaCcggaagcggctgttcgagag	18	6	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:124272480C>T	ENST00000409039.3	+	10	1393	c.1368C>T	c.(1366-1368)gaC>gaT	p.D456D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	456	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGAGTTTGACCGGAAGCGGC	0.592																																																	0													54	44	47					12																	124272480		2203	4300	6503	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1368C>T	12.37:g.124272480C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.D456	ENST00000409039.3	37	c.1368	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy_dom-1		0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124272480	1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.146	T	T	124272480	C	T	124272480	2	4	151	1	0	0	0	0	0	0	0	1	4608	506	18	4		4	DNAH10	12	124272480	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	289207	124272480	9579415	624	25257										
ZNF664	144348	genome.wustl.edu	37	chr12	124497247	124497247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgttcagtcagagttcgagcCtctgcatccaccagagagtc	10	13	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:124497247C>A	ENST00000539644.1	+	6	2386	c.556C>A	c.(556-558)Ctc>Atc	p.L186I	ZNF664_ENST00000337815.4_Missense_Mutation_p.L186I|ZNF664_ENST00000392404.3_Missense_Mutation_p.L186I|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.L186I			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAGTTCGAGCCTCTGCATCCA	0.522																																																	0													107	104	105					12																	124497247		2203	4300	6503	SO:0001583	missense	144348				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.556C>A	12.37:g.124497247C>A	ENSP00000441405:p.Leu186Ile		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L186I	ENST00000539644.1	37	c.556	CCDS9257.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963598	0.74016	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35903	N	0.002915	T	0.38904	0.1058	M	0.88979	2.995	0.35737	D	0.818389	D	0.89917	1.0	D	0.83275	0.996	T	0.56974	-0.7890	10	0.72032	D	0.01	-32.7578	14.9673	0.71204	0.0:1.0:0.0:0.0	.	186	Q8N3J9	ZN664_HUMAN	I	186;186;186;186;124	ENSP00000441405:L186I;ENSP00000376205:L186I;ENSP00000440645:L186I;ENSP00000337320:L186I	ENSP00000337320:L186I	L	+	1	0	ZNF664	123063200	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	3.548000	0.53670	2.651000	0.90000	0.655000	0.94253	CTC	ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1	C	NM_152437		124497247	1	no_errors	ENST00000337815	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124497247	C	A	124497247	3	1	151	1	0	0	0	0	1	0	0	0	18102	681	24	4	558	4	ZNF664	12	124497247	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	224767	124497247	9354648	625	25258										
TMEM132B	114795	genome.wustl.edu	37	chr12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcatgtatgccttgctctgcGtcttctgtctggccattctg	10	12	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																																	0													98	96	97					12																	126138738		2038	4218	6256	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.V907I	ENST00000299308.3	37	c.2719	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC	TMEM132B	-	NULL		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	G	NM_052907		126138738	1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126138738	G	A	126138738	3	1	151	1	0	0	0	0	1	0	0	0	16076	1145	40	2	2753	2	TMEM132B	12	126138738	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1641491	126138738	7713157	626	25259										
EP400	57634	genome.wustl.edu	37	chr12	132530070	132530070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcctggtcaagacaaccccGagtggctcatcagtgaggac	12	12	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:132530070G>A	ENST00000333577.4	+	39	7208	c.7099G>A	c.(7099-7101)Gag>Aag	p.E2367K	EP400_ENST00000389562.2_Missense_Mutation_p.E2330K|EP400_ENST00000389561.2_Missense_Mutation_p.E2331K|EP400_ENST00000332482.4_Missense_Mutation_p.E2294K|EP400_ENST00000330386.6_Missense_Mutation_p.E2250K			Q96L91	EP400_HUMAN	E1A binding protein p400	2367	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACAACCCCGAGTGGCTCAT	0.572																																																	0													63	62	63					12																	132530070		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7099G>A	12.37:g.132530070G>A	ENSP00000333602:p.Glu2367Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2367K	ENST00000333577.4	37	c.7099		12	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019752	0.54576	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.61	5.61	0.85477	.	0.049177	0.85682	D	0.000000	T	0.58104	0.2099	M	0.84683	2.71	0.45227	D	0.998231	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.46825	0.528;0.528;0.528	T	0.67577	-0.5635	10	0.72032	D	0.01	.	19.6322	0.95713	0.0:0.0:1.0:0.0	.	2331;2250;2330	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	2367;2331;2330;2294;2250;2331	ENSP00000333602:E2367K;ENSP00000374212:E2331K;ENSP00000374213:E2330K;ENSP00000331737:E2294K;ENSP00000330620:E2250K	ENSP00000330620:E2250K	E	+	1	0	EP400	131096023	1.000000	0.71417	0.965000	0.40720	0.441000	0.31987	9.461000	0.97646	2.652000	0.90054	0.655000	0.94253	GAG	EP400	-	superfamily_Homeodomain-like,pfscan_Myb-like_dom		0.572	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132530070	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132530070	G	A	132530070	3	1	151	1	0	0	0	0	1	0	0	0	5161	1059	37	1	7134	1	EP400	12	132530070	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6391332	132530070	1321825	627	25260										
CHFR	55743	genome.wustl.edu	37	chr12	133446252	133446252	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggagaaggctccgtggaaGaggccgaggctgtggggaag	20	7	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:133446252G>A	ENST00000432561.2	-	6	645	c.572C>T	c.(571-573)tCt>tTt	p.S191F	CHFR_ENST00000541837.2_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000450056.2_Missense_Mutation_p.S179F|CHFR_ENST00000315585.7_Intron|CHFR_ENST00000266880.7_Missense_Mutation_p.S191F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	191					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTCCGTGGAAGAGGCCGAGGC	0.592																																																	0													93	102	100					12																	133446252		692	1591	2283	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.572C>T	12.37:g.133446252G>A	ENSP00000392395:p.Ser191Phe		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.S191F	ENST00000432561.2	37	c.572	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375688	0.42105	.	.	ENSG00000072609	ENST00000450056;ENST00000266880;ENST00000432561;ENST00000541817;ENST00000540963;ENST00000540537;ENST00000542714	T;T;T	0.20069	2.35;2.1;2.36	5.1	4.2	0.49525	.	0.186113	0.49305	D	0.000147	T	0.38852	0.1056	M	0.61703	1.905	0.44275	D	0.997139	P;P;P	0.51351	0.944;0.907;0.789	P;P;P	0.57057	0.812;0.653;0.61	T	0.28427	-1.0044	10	0.66056	D	0.02	-19.0036	15.1618	0.72791	0.0:0.1422:0.8578:0.0	.	191;191;179	Q96EP1-4;Q96EP1;Q96EP1-2	.;CHFR_HUMAN;.	F	179;191;191;51;179;10;63	ENSP00000398735:S179F;ENSP00000266880:S191F;ENSP00000392395:S191F	ENSP00000266880:S191F	S	-	2	0	CHFR	131956325	1.000000	0.71417	0.929000	0.37066	0.018000	0.09664	6.291000	0.72719	1.117000	0.41842	-0.386000	0.06593	TCT	CHFR	-	NULL		0.592	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	G			133446252	-1	no_errors	ENST00000266880	ensembl	human	known	70_37	missense	SNP	0.997	A	A	133446252	G	A	133446252	3	1	151	1	0	0	0	0	1	0	0	0	3342	942	33	1	1571	1	CHFR	12	133446252	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	916182	133446252	405643	628	25261										
NUPL1	9818	genome.wustl.edu	37	chr13	25875932	25875932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atgtccacagggttctccttCgggtccgggactctgggctc	13	13	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:25875932C>A	ENST00000381736.3	+	1	271	c.21C>A	c.(19-21)ttC>ttA	p.F7L	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.F7L|RP11-271M24.2_ENST00000568856.2_lincRNA|NUPL1_ENST00000381718.3_Missense_Mutation_p.F7L	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	7	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTCTCCTTCGGGTCCGGGA	0.662																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													34	34	34					13																	25875932		2202	4300	6502	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.21C>A	13.37:g.25875932C>A	ENSP00000371155:p.Phe7Leu		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.F7L	ENST00000381736.3	37	c.21	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966780	0.34659	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.65549	0.46;0.27;-0.16;0.21	4.4	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.68952	2.095	0.51767	D	0.999934	D;D;D	0.58268	0.982;0.982;0.982	D;D;D	0.67725	0.953;0.953;0.953	T	0.73388	-0.3998	10	0.87932	D	0	-7.6252	8.999	0.36069	0.0:0.8024:0.0:0.1976	.	7;7;7	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	L	7	ENSP00000371155:F7L;ENSP00000418555:F7L;ENSP00000371137:F7L;ENSP00000371166:F7L	ENSP00000318459:F7L	F	+	3	2	NUPL1	24773932	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	0.633000	0.24598	0.926000	0.37118	0.591000	0.81541	TTC	NUPL1	-	NULL		0.662	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	C			25875932	1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25875932	C	A	25875932	3	1	151	1	0	0	0	0	1	0	0	0	10798	883	31	3	23	3	NUPL1	13	25875932	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		25875932	89293946	629	25262										
FLT1	2321	genome.wustl.edu	37	chr13	28919631	28919631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ataggagccagaagagagtcGcagccacacaggtgcatgtt	13	9	0	2	rs200840674		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:28919631G>A	ENST00000282397.4	-	16	2557	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGAGAGTCGCAGCCACACA	0.393																																																	0								G	VAL/ALA	0,4406		0,0,2203	62	61	61		2306	5.5	0.8	13		61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FLT1	NM_002019.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	769/1339	28919631	1,13005	2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2306C>T	13.37:g.28919631G>A	ENSP00000282397:p.Ala769Val		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.A769V	ENST00000282397.4	37	c.2306	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.404122	0.96051	0.0	1.16E-4	ENSG00000102755	ENST00000282397	T	0.77098	-1.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86135	0.1577	10	0.31617	T	0.26	.	19.4283	0.94754	0.0:0.0:1.0:0.0	.	769	P17948	VGFR1_HUMAN	V	769	ENSP00000282397:A769V	ENSP00000282397:A769V	A	-	2	0	FLT1	27817631	1.000000	0.71417	0.845000	0.33349	0.912000	0.54170	9.832000	0.99423	2.590000	0.87494	0.555000	0.69702	GCG	FLT1	-	NULL		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	G			28919631	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28919631	G	A	28919631	3	1	151	1	0	0	0	0	1	0	0	0	5959	1087	38	2	1770	2	FLT1	13	28919631	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3043699	28919631	86250247	630	25263										
FRY	10129	genome.wustl.edu	37	chr13	32776588	32776588	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacggcccgctgccacccctCtacagcgtgtcacttgccct	8	20	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:32776588C>G	ENST00000380250.3	+	31	4438	c.3942C>G	c.(3940-3942)ctC>ctG	p.L1314L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCCACCCCTCTACAGCGTGT	0.498																																																	0													82	83	83					13																	32776588		1997	4166	6163	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3942C>G	13.37:g.32776588C>G			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.L1314	ENST00000380250.3	37	c.3942	CCDS41875.1	13																																																																																			FRY	-	NULL		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32776588	1	no_errors	ENST00000380250	ensembl	human	known	70_37	silent	SNP	1.000	G	G	32776588	C	G	32776588	2	3	151	1	0	0	0	0	0	0	0	1	6081	900	32	1		1	FRY	13	32776588	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3856957	32776588	82393290	631	25264										
FRY	10129	genome.wustl.edu	37	chr13	32785125	32785125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagcattgtgacaacccgccCttctaccgcttcacggccag	8	17	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:32785125C>T	ENST00000380250.3	+	34	5041	c.4545C>T	c.(4543-4545)ccC>ccT	p.P1515P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1515						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAACCCGCCCTTCTACCGCT	0.562																																																	0													65	69	68					13																	32785125		1957	4152	6109	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4545C>T	13.37:g.32785125C>T			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.P1515	ENST00000380250.3	37	c.4545	CCDS41875.1	13																																																																																			FRY	-	NULL		0.562	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32785125	1	no_errors	ENST00000380250	ensembl	human	known	70_37	silent	SNP	0.942	T	T	32785125	C	T	32785125	2	4	151	1	0	0	0	0	0	0	0	1	6081	668	24	4		4	FRY	13	32785125	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8537	32785125	82384753	632	25265										
RFC3	5983	genome.wustl.edu	37	chr13	34395290	34395290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcagtgtggtgactttcctCatctgttagtgtacggacca	11	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:34395290C>T	ENST00000380071.3	+	2	239	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	RFC3_ENST00000434425.1_Missense_Mutation_p.H37Y	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	37					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGACTTTCCTCATCTGTTAGT	0.378																																																	0													226	206	213					13																	34395290		2203	4300	6503	SO:0001583	missense	5983				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.109C>T	13.37:g.34395290C>T	ENSP00000369411:p.His37Tyr		C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.H37Y	ENST00000380071.3	37	c.109	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736104	0.89482	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.52057	0.68;0.68	5.31	5.31	0.75309	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80228	-0.1469	10	0.87932	D	0	-19.5386	17.9643	0.89096	0.0:1.0:0.0:0.0	.	37;37;37	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	Y	37	ENSP00000369411:H37Y;ENSP00000401001:H37Y	ENSP00000369411:H37Y	H	+	1	0	RFC3	33293290	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.465000	0.80898	2.494000	0.84150	0.650000	0.86243	CAT	RFC3	-	smart_AAA+_ATPase		0.378	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	HGNC	protein_coding	OTTHUMT00000044450.2	C	NM_002915		34395290	1	no_errors	ENST00000380071	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34395290	C	T	34395290	3	4	151	1	0	0	0	0	1	0	0	0	13276	826	29	1	115	1	RFC3	13	34395290	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1610165	34395290	80774588	633	25266										
TRPC4	7223	genome.wustl.edu	37	chr13	38266217	38266217	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtctgacctgtcgatgtgctGagaggcaagcagcagcagga	15	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:38266217G>A	ENST00000379705.3	-	4	2010	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	TRPC4_ENST00000379679.1_Nonsense_Mutation_p.Q212*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.Q212*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.Q385*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	385					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGATGTGCTGAGAGGCAAGC	0.473																																																	0													115	106	109					13																	38266217		2203	4300	6503	SO:0001587	stop_gained	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1153C>T	13.37:g.38266217G>A	ENSP00000369027:p.Gln385*		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q385*	ENST00000379705.3	37	c.1153	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.430934	0.98808	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.6254	19.942	0.97168	0.0:0.0:1.0:0.0	.	.	.	.	X	385;385;212;212;385;385;385;385;385	.	ENSP00000342580:Q212X	Q	-	1	0	TRPC4	37164217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.700000	0.92200	0.563000	0.77884	CAG	TRPC4	-	tigrfam_TRP_channel		0.473	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	G	NM_003306		38266217	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	38266217	G	A	38266217	4	1	151	1	0	0	0	0	0	1	0	0	16611	1299	45	1	1827	1	TRPC4	13	38266217	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3870927	38266217	76903661	634	25267										
FREM2	341640	genome.wustl.edu	37	chr13	39357288	39357288	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cattcccatcaggaggagcgGagatgtgagccaggagttga	15	8	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:39357288G>C	ENST00000280481.7	+	5	5939	c.5723G>C	c.(5722-5724)gGa>gCa	p.G1908A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1908	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAGGAGCGGAGATGTGAGC	0.433																																																	0													196	180	185					13																	39357288		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5723G>C	13.37:g.39357288G>C	ENSP00000280481:p.Gly1908Ala		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G1908A	ENST00000280481.7	37	c.5723	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039035	0.75617	.	.	ENSG00000150893	ENST00000280481	T	0.37752	1.18	5.84	5.84	0.93424	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75288	-0.3370	10	0.87932	D	0	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	1908	Q5SZK8	FREM2_HUMAN	A	1908	ENSP00000280481:G1908A	ENSP00000280481:G1908A	G	+	2	0	FREM2	38255288	1.000000	0.71417	0.901000	0.35422	0.187000	0.23431	9.860000	0.99555	2.751000	0.94390	0.514000	0.50259	GGA	FREM2	-	pfam_Calx_beta,smart_Calx_beta		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39357288	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39357288	G	C	39357288	3	2	151	1	0	0	0	0	1	0	0	0	6063	1174	41	1	5741	1	FREM2	13	39357288	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1091071	39357288	75812590	635	25268										
ABCC4	10257	genome.wustl.edu	37	chr13	95839079	95839079	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgagacacataggcaattCttccatgcacgctgaccagc	9	13	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:95839079C>G	ENST00000376887.4	-	11	1535	c.1421G>C	c.(1420-1422)aGa>aCa	p.R474T	ABCC4_ENST00000412704.1_Missense_Mutation_p.R474T|ABCC4_ENST00000536256.1_Missense_Mutation_p.R399T|ABCC4_ENST00000431522.1_Missense_Mutation_p.R474T|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	474	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ATAGGCAATTCTTCCATGCAC	0.458																																																	0													63	60	61					13																	95839079		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1421G>C	13.37:g.95839079C>G	ENSP00000366084:p.Arg474Thr		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.R474T	ENST00000376887.4	37	c.1421	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100927	0.37048	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.81	-0.099	0.13626	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.620106	0.19680	N	0.108532	D	0.85349	0.5676	N	0.16708	0.43	0.34693	D	0.725908	B;B;B;B;B	0.22983	0.032;0.078;0.011;0.078;0.032	B;B;B;B;B	0.33121	0.1;0.158;0.038;0.158;0.133	T	0.75608	-0.3259	10	0.27785	T	0.31	.	6.9651	0.24619	0.0:0.5823:0.1081:0.3096	.	399;474;474;474;474	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	T	474;474;399;474	ENSP00000388657:R474T;ENSP00000366084:R474T;ENSP00000442024:R399T;ENSP00000398562:R474T	ENSP00000366084:R474T	R	-	2	0	ABCC4	94637080	0.409000	0.25368	0.001000	0.08648	0.543000	0.35085	1.024000	0.30077	-0.078000	0.12730	-0.157000	0.13467	AGA	ABCC4	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.458	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95839079	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	0.475	G	G	95839079	C	G	95839079	3	3	151	1	0	0	0	0	1	0	0	0	55	913	32	1	2689	1	ABCC4	13	95839079	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	56481791	95839079	19330799	636	25269										
OR4M1	441670	genome.wustl.edu	37	chr14	20248702	20248702	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctccttgatatttggtactCttccattacagcccctaaaa	4	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:20248702C>T	ENST00000315957.4	+	1	302	c.221C>T	c.(220-222)tCt>tTt	p.S74F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTGGTACTCTTCCATTACA	0.418																																																	0													286	306	299					14																	20248702		2203	4300	6503	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.221C>T	14.37:g.20248702C>T	ENSP00000319654:p.Ser74Phe		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74F	ENST00000315957.4	37	c.221	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	16.47	3.132766	0.56828	.	.	ENSG00000176299	ENST00000315957	T	0.00840	5.63	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.08179	0.0204	H	0.95780	3.72	0.36793	D	0.884939	D	0.65815	0.995	D	0.63597	0.916	T	0.04607	-1.0939	10	0.87932	D	0	-16.9284	14.4139	0.67135	0.0:1.0:0.0:0.0	.	74	Q8NGD0	OR4M1_HUMAN	F	74	ENSP00000319654:S74F	ENSP00000319654:S74F	S	+	2	0	OR4M1	19318542	0.000000	0.05858	1.000000	0.80357	0.887000	0.51463	0.278000	0.18753	2.338000	0.79540	0.401000	0.26515	TCT	OR4M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	C			20248702	1	no_errors	ENST00000315957	ensembl	human	known	70_37	missense	SNP	0.989	T	T	20248702	C	T	20248702	3	4	151	1	0	0	0	0	1	0	0	0	11099	913	32	1	223	1	OR4M1	14	20248702	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		20248702	87100838	637	25270										
RNASE13	440163	genome.wustl.edu	37	chr14	21502283	21502283	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgcctcgcatataggacatCagaccattacaatagccccg	7	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:21502283C>A	ENST00000382951.3	-	2	302	c.165G>T	c.(163-165)ctG>ctT	p.L55L	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	55						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TATAGGACATCAGACCATTAC	0.443																																																	0													115	100	105					14																	21502283		2203	4300	6503	SO:0001819	synonymous_variant	440163			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"Ribonucleases, RNase A"	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.165G>T	14.37:g.21502283C>A				Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.L55	ENST00000382951.3	37	c.165	CCDS32039.1	14																																																																																			RNASE13	-	pfam_RNaseA_domain,superfamily_RNaseA_domain		0.443	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE13	HGNC	protein_coding	OTTHUMT00000411744.1	C			21502283	-1	no_errors	ENST00000382951	ensembl	human	known	70_37	silent	SNP	0.061	A	A	21502283	C	A	21502283	2	1	151	1	0	0	0	0	0	0	0	1	13433	813	29	3		3	RNASE13	14	21502283	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1253581	21502283	85847257	638	25271										
CHD8	57680	genome.wustl.edu	37	chr14	21868389	21868389	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttatatttccggatccaatCtgccttatggatatcaaaag	7	8	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:21868389C>G	ENST00000557364.1	-	24	4911	c.4648G>C	c.(4648-4650)Gat>Cat	p.D1550H	CHD8_ENST00000430710.3_Missense_Mutation_p.D1271H|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Missense_Mutation_p.D1550H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1550					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.D1550N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGGATCCAATCTGCCTTATGG	0.403																																																	1	Substitution - Missense(1)	lung(1)											137	129	131					14																	21868389		1853	4097	5950	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4648G>C	14.37:g.21868389C>G	ENSP00000451601:p.Asp1550His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1550H	ENST00000557364.1	37	c.4648	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864106|2.864106	0.51482|0.51482	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.84660|.	-1.88;-1.88;-1.88|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.052363|.	0.85682|.	D|.	0.000000|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.25614|.	0.062|.	T|T	0.51872|0.51872	-0.8650|-0.8650	10|5	0.45353|.	T|.	0.12|.	-13.531|-13.531	17.6948|17.6948	0.88278|0.88278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1271|.	Q9HCK8-2|.	.|.	H|T	1271;1550;1270;1550|783	ENSP00000406288:D1271H;ENSP00000382863:D1550H;ENSP00000451601:D1550H|.	ENSP00000262707:D1270H|.	D|R	-|-	1|2	0|0	CHD8|CHD8	20938229|20938229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.651000|7.651000	0.83577|0.83577	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAT|AGA	CHD8	-	NULL		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21868389	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21868389	C	G	21868389	3	3	151	1	0	0	0	0	1	0	0	0	3336	913	32	1	3157	1	CHD8	14	21868389	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	366106	21868389	85481151	639	25272										
CHD8	57680	genome.wustl.edu	37	chr14	21899210	21899210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctttggtaaaagtgacttttCcaccattggctgtgcctgcc	9	11	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:21899210C>T	ENST00000557364.1	-	2	856	c.593G>A	c.(592-594)gGa>gAa	p.G198E	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.G198E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	198					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTGACTTTTCCACCATTGGC	0.557																																																	0													43	39	40					14																	21899210		1568	3582	5150	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.593G>A	14.37:g.21899210C>T	ENSP00000451601:p.Gly198Glu		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G198E	ENST00000557364.1	37	c.593	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331805	0.81801	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.92911	-3.13;-3.13	5.86	5.86	0.93980	.	0.353536	0.19531	U	0.112026	D	0.91771	0.7397	L	0.27053	0.805	0.54753	D	0.999983	.	.	.	.	.	.	D	0.91766	0.5424	8	0.56958	D	0.05	-8.5426	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	E	198	ENSP00000382863:G198E;ENSP00000451601:G198E	ENSP00000382863:G198E	G	-	2	0	CHD8	20969050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.832000	0.62759	2.775000	0.95449	0.585000	0.79938	GGA	CHD8	-	NULL		0.557	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21899210	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21899210	C	T	21899210	3	4	151	1	0	0	0	0	1	0	0	0	3336	855	30	1	7300	1	CHD8	14	21899210	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	30821	21899210	85450330	640	25273										
MDP1	145553	genome.wustl.edu	37	chr14	24684984	24684984	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctacgtgcgtgtcgacccaGaaaggccagagagtgtaatc	12	10	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:24684984G>A	ENST00000288087.7	-	2	168	c.57C>T	c.(55-57)ttC>ttT	p.F19F	CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Intron|NEDD8-MDP1_ENST00000604306.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|MDP1_ENST00000396833.2_Silent_p.F19F|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000609024.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	19						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TGTCGACCCAGAAAGGCCAGA	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													162	159	160					14																	24684984		2203	4300	6503	SO:0001819	synonymous_variant	145553			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.57C>T	14.37:g.24684984G>A		773	Q86Y84|Q8NAD9	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	p.F19	ENST00000288087.7	37	c.57	CCDS9620.1	14																																																																																			MDP1	-	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC		0.597	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MDP1	HGNC	protein_coding	OTTHUMT00000257367.1	G	NM_138476		24684984	-1	no_errors	ENST00000288087	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24684984	G	A	24684984	2	1	151	1	0	0	0	0	0	0	0	1	9439	933	33	1		1	MDP1	14	24684984	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2785774	24684984	82664556	641	25274										
NOVA1	4857	genome.wustl.edu	37	chr14	26918136	26918136	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acctcccttccctattatcaGacctgctgtgctgttgggaa	8	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:26918136G>C	ENST00000539517.2	-	5	870	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	NOVA1_ENST00000267422.7_Missense_Mutation_p.L63V|NOVA1_ENST00000465357.2_Missense_Mutation_p.L161V	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	188	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCTATTATCAGACCTGCTGTG	0.398																																																	0													100	101	101					14																	26918136		2203	4300	6503	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.553C>G	14.37:g.26918136G>C	ENSP00000438875:p.Leu185Val		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.L185V	ENST00000539517.2	37	c.553	CCDS32061.1	14	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583387	0.65992	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.67	5.67	0.87782	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.56097	D	0.000022	T	0.50292	0.1607	L	0.56280	1.765	0.80722	D	1	P;D;D	0.57257	0.935;0.979;0.974	P;D;D	0.71414	0.78;0.973;0.953	T	0.21484	-1.0244	10	0.14656	T	0.56	-3.2318	19.7504	0.96265	0.0:0.0:1.0:0.0	.	188;161;185	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	V	161;185;63;144;39;63;148	ENSP00000447391:L161V;ENSP00000438875:L185V;ENSP00000267422:L63V;ENSP00000408914:L144V;ENSP00000299472:L39V;ENSP00000449113:L63V;ENSP00000449185:L148V	ENSP00000267422:L63V	L	-	1	2	NOVA1	25987976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.687000	0.74552	2.673000	0.90976	0.563000	0.77884	CTG	NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.398	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	G	NM_006491		26918136	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26918136	G	C	26918136	3	2	151	1	0	0	0	0	1	0	0	0	10578	933	33	1	974	1	NOVA1	14	26918136	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2233152	26918136	80431404	642	25275										
PNN	5411	genome.wustl.edu	37	chr14	39648436	39648436	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcttttggaacagaaagttGagcttgcgcagctggtgagt	15	6	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:39648436G>C	ENST00000216832.4	+	7	707	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	PNN_ENST00000553331.1_3'UTR|PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	214	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		ACAGAAAGTTGAGCTTGCGCA	0.418																																																	0													124	129	127					14																	39648436		2203	4300	6503	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.640G>C	14.37:g.39648436G>C	ENSP00000216832:p.Glu214Gln		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.E214Q	ENST00000216832.4	37	c.640	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.105486	0.94245	.	.	ENSG00000100941	ENST00000216832	T	0.38240	1.15	5.97	5.97	0.96955	Pinin/SDK/MemA protein (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69483	-0.5133	10	0.62326	D	0.03	-11.9836	20.4238	0.99064	0.0:0.0:1.0:0.0	.	214	Q9H307	PININ_HUMAN	Q	214	ENSP00000216832:E214Q	ENSP00000216832:E214Q	E	+	1	0	PNN	38718187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.834000	0.97654	0.650000	0.86243	GAG	PNN	-	pfam_Pinin_SDK_MemA		0.418	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	G	NM_002687		39648436	1	no_errors	ENST00000216832	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39648436	G	C	39648436	3	2	151	1	0	0	0	0	1	0	0	0	12184	1291	45	1	666	1	PNN	14	39648436	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	12730300	39648436	67701104	643	25276										
FSCB	84075	genome.wustl.edu	37	chr14	44975541	44975541	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttagtctcctgagtaaatGaagttctgctgatatttttc	7	6	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:44975541G>A	ENST00000340446.4	-	1	941	c.650C>T	c.(649-651)tCa>tTa	p.S217L	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	217						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAGTAAATGAAGTTCTGCT	0.393																																																	0													115	117	117					14																	44975541		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.650C>T	14.37:g.44975541G>A	ENSP00000344579:p.Ser217Leu		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.S217L	ENST00000340446.4	37	c.650	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	4.547	0.101649	0.08731	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.26660	1.72	4.24	1.09	0.20402	.	.	.	.	.	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	P	0.39157	0.662	B	0.38655	0.278	T	0.16958	-1.0385	9	0.24483	T	0.36	-0.8246	5.0808	0.14655	0.1965:0.0:0.6369:0.1666	.	217	Q5H9T9	FSCB_HUMAN	L	217	ENSP00000344579:S217L	ENSP00000344579:S217L	S	-	2	0	FSCB	44045291	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.105000	0.15333	0.515000	0.28320	0.655000	0.94253	TCA	FSCB	-	NULL		0.393	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	G	NM_032135		44975541	-1	no_errors	ENST00000340446	ensembl	human	known	70_37	missense	SNP	0.001	A	A	44975541	G	A	44975541	3	1	151	1	0	0	0	0	1	0	0	0	6084	1294	45	1	1831	1	FSCB	14	44975541	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5327105	44975541	62373999	644	25277										
SDCCAG1	9147	genome.wustl.edu	37	chr14	50255978	50255978	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctctgtccacctctaggtttCtggggctgtttcttcacagg	10	12	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50255978C>G	ENST00000298310.5	-	28	3230	c.2781G>C	c.(2779-2781)caG>caC	p.Q927H	NEMF_ENST00000545773.1_Missense_Mutation_p.Q885H|NEMF_ENST00000546046.1_Missense_Mutation_p.Q906H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.Q127H			O60524	NEMF_HUMAN	nuclear export mediator factor	927					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTCTAGGTTTCTGGGGCTGTT	0.413																																																	0													194	194	194					14																	50255978		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2781G>C	14.37:g.50255978C>G	ENSP00000298310:p.Gln927His		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.Q927H	ENST00000298310.5	37	c.2781	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941817	0.73557	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.48836	0.82;0.81;0.8;0.81	5.65	4.76	0.60689	.	0.198023	0.34932	N	0.003570	T	0.64080	0.2566	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;P;D	0.89917	0.995;1.0;1.0;0.855;0.999	D;D;D;B;D	0.73380	0.912;0.964;0.964;0.365;0.98	T	0.66304	-0.5957	10	0.56958	D	0.05	-11.0171	14.3842	0.66931	0.0:0.9291:0.0:0.0709	.	906;902;885;927;127	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	H	927;885;127;906;699;885	ENSP00000298310:Q927H;ENSP00000438309:Q885H;ENSP00000441016:Q906H;ENSP00000452540:Q885H	ENSP00000298310:Q927H	Q	-	3	2	NEMF	49325728	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.161000	0.50747	1.376000	0.46267	0.557000	0.71058	CAG	NEMF	-	NULL		0.413	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50255978	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50255978	C	G	50255978	3	3	151	1	0	0	0	0	1	0	0	0	13987	912	32	1	473	1	SDCCAG1	14	50255978	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5280437	50255978	57093562	645	25278			2	109		3	3	306	C		4.140942e-05
SDCCAG1	9147	genome.wustl.edu	37	chr14	50256237	50256237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagcaacttcatgataagttCacggtcttcttcatcctggt	7	11	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50256237C>T	ENST00000298310.5	-	27	3123	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	NEMF_ENST00000545773.1_Missense_Mutation_p.E850K|NEMF_ENST00000546046.1_Missense_Mutation_p.E871K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.E92K			O60524	NEMF_HUMAN	nuclear export mediator factor	892					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATGATAAGTTCACGGTCTTCT	0.348																																																	0													146	138	141					14																	50256237		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2674G>A	14.37:g.50256237C>T	ENSP00000298310:p.Glu892Lys		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.E892K	ENST00000298310.5	37	c.2674	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209750	0.39003	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.47177	0.88;0.89;0.85;0.89	5.47	3.58	0.41010	.	0.115261	0.56097	D	0.000024	T	0.41351	0.1155	L	0.42632	1.34	0.58432	D	0.999999	P;P;P;P;P	0.47910	0.675;0.675;0.726;0.572;0.902	B;B;B;B;B	0.43301	0.23;0.23;0.294;0.147;0.415	T	0.13202	-1.0518	10	0.14252	T	0.57	-7.8407	15.6917	0.77461	0.0:0.7404:0.2596:0.0	.	871;867;850;892;92	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	K	892;850;92;871;664;850	ENSP00000298310:E892K;ENSP00000438309:E850K;ENSP00000441016:E871K;ENSP00000452540:E850K	ENSP00000298310:E892K	E	-	1	0	NEMF	49325987	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	3.488000	0.53229	0.614000	0.30107	0.460000	0.39030	GAA	NEMF	-	NULL		0.348	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50256237	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50256237	C	T	50256237	3	4	151	1	0	0	0	0	1	0	0	0	13987	835	29	1	584	1	SDCCAG1	14	50256237	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	259	50256237	57093303	646	25279			2	109		3	3	306	C		4.140942e-05
SDCCAG1	9147	genome.wustl.edu	37	chr14	50256283	50256283	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tatttttctttcatttttttCattttactctacaaaatcag	1	7	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50256283C>T	ENST00000298310.5	-	27	3077	c.2628G>A	c.(2626-2628)atG>atA	p.M876I	NEMF_ENST00000545773.1_Missense_Mutation_p.M834I|NEMF_ENST00000546046.1_Missense_Mutation_p.M855I|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.M76I			O60524	NEMF_HUMAN	nuclear export mediator factor	876					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCATTTTTTTCATTTTACTCT	0.294																																																	0													76	74	75					14																	50256283		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2628G>A	14.37:g.50256283C>T	ENSP00000298310:p.Met876Ile		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.M876I	ENST00000298310.5	37	c.2628	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495951	0.44352	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.42131	0.99;0.99;0.98;0.99	5.47	3.56	0.40772	.	0.103096	0.64402	D	0.000003	T	0.38506	0.1043	L	0.58428	1.81	0.41332	D	0.987246	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.002;0.002;0.001;0.006	T	0.26155	-1.0111	10	0.30078	T	0.28	-11.1875	13.3685	0.60698	0.1231:0.7577:0.1192:0.0	.	855;851;834;876;76	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	I	876;834;76;855;648;834	ENSP00000298310:M876I;ENSP00000438309:M834I;ENSP00000441016:M855I;ENSP00000452540:M834I	ENSP00000298310:M876I	M	-	3	0	NEMF	49326033	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.702000	0.47102	2.566000	0.86566	0.460000	0.39030	ATG	NEMF	-	NULL		0.294	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50256283	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50256283	C	T	50256283	3	4	151	1	0	0	0	0	1	0	0	0	13987	826	29	1	630	1	SDCCAG1	14	50256283	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	46	50256283	57093257	647	25280			2	109		3	3	306	C		4.140942e-05
ATL1	51062	genome.wustl.edu	37	chr14	51094938	51094938	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccaatatatcaagcacaatGatagcaaaaatatcttccat	3	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:51094938G>A	ENST00000358385.6	+	12	1550	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	ATL1_ENST00000354525.4_Missense_Mutation_p.D437N|ATL1_ENST00000357032.3_Missense_Mutation_p.D437N|ATL1_ENST00000441560.2_Missense_Mutation_p.D437N	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	437					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CAAGCACAATGATAGCAAAAA	0.428																																																	0													213	185	194					14																	51094938		2203	4300	6503	SO:0001583	missense	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1309G>A	14.37:g.51094938G>A	ENSP00000351155:p.Asp437Asn		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.D437N	ENST00000358385.6	37	c.1309	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.341908	0.95783	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.76	5.76	0.90799	Guanylate-binding protein, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88676	0.6501	L	0.34521	1.04	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.83054	-0.0151	10	0.38643	T	0.18	-20.3231	18.9619	0.92680	0.0:0.0:1.0:0.0	.	437;437	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	N	437	ENSP00000413675:D437N;ENSP00000351155:D437N;ENSP00000349534:D437N;ENSP00000346522:D437N	ENSP00000346522:D437N	D	+	1	0	ATL1	50164688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GAT	ATL1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.428	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	G			51094938	1	no_errors	ENST00000357032	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51094938	G	A	51094938	3	1	151	1	0	0	0	0	1	0	0	0	1107	1290	45	1	1355	1	ATL1	14	51094938	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	838655	51094938	56254602	648	25281										
TXNDC16	57544	genome.wustl.edu	37	chr14	52907355	52907355	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caatattgcttttttatactGaggatttacagtgccatcac	6	8	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:52907355G>C	ENST00000281741.4	-	19	2301	c.1930C>G	c.(1930-1932)Cag>Gag	p.Q644E	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	644					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTTTTATACTGAGGATTTACA	0.328																																																	0													77	73	74					14																	52907355		2203	4297	6500	SO:0001583	missense	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1930C>G	14.37:g.52907355G>C	ENSP00000281741:p.Gln644Glu		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.Q644E	ENST00000281741.4	37	c.1930	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666599	0.00765	.	.	ENSG00000087301	ENST00000281741	T	0.25749	1.78	5.29	3.31	0.37934	.	0.931354	0.09173	N	0.838506	T	0.15349	0.0370	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.36601	-0.9741	10	0.02654	T	1	-17.8493	6.7777	0.23628	0.0:0.1202:0.4041:0.4756	.	639;644	B7ZME4;Q9P2K2	.;TXD16_HUMAN	E	644	ENSP00000281741:Q644E	ENSP00000281741:Q644E	Q	-	1	0	TXNDC16	51977105	0.002000	0.14202	0.184000	0.23157	0.007000	0.05969	0.834000	0.27518	1.144000	0.42321	0.591000	0.81541	CAG	TXNDC16	-	NULL		0.328	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	G	XM_051699		52907355	-1	no_errors	ENST00000281741	ensembl	human	known	70_37	missense	SNP	0.042	C	C	52907355	G	C	52907355	3	2	151	1	0	0	0	0	1	0	0	0	16826	1299	45	1	559	1	TXNDC16	14	52907355	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1812417	52907355	54442185	649	25282										
GCH1	2643	genome.wustl.edu	37	chr14	55313836	55313836	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccttgtagtcttctactataGatttctacaatcctagaaaa	4	9	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:55313836G>T	ENST00000491895.2	-	4	710	c.522C>A	c.(520-522)atC>atA	p.I174I	GCH1_ENST00000543643.2_Silent_p.I174I|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Silent_p.I174I|GCH1_ENST00000536224.2_Silent_p.I174I	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	174					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						TTCTACTATAGATTTCTACAA	0.244																																					Pancreas(198;1245 2204 4807 21567 38372)												0													17	19	19					14																	55313836		2169	4277	6446	SO:0001819	synonymous_variant	2643			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"dopa-responsive dystonia"	600225	"dystonia 14"	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.522C>A	14.37:g.55313836G>T			Q6FHY7|Q9Y4I8	Silent	SNP	pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I	p.I174	ENST00000491895.2	37	c.522	CCDS9720.1	14																																																																																			GCH1	-	pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I		0.244	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	G			55313836	-1	no_errors	ENST00000395514	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55313836	G	T	55313836	2	4	151	1	0	0	0	0	0	0	0	1	6310	932	33	3		3	GCH1	14	55313836	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2406481	55313836	52035704	650	25283										
SYNE2	23224	genome.wustl.edu	37	chr14	64518339	64518339	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatagcatccatagaaaaaGagaaagattctttaggcaac	7	7	2	3	rs376507352		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:64518339G>C	ENST00000344113.4	+	48	7920	c.7708G>C	c.(7708-7710)Gag>Cag	p.E2570Q	SYNE2_ENST00000358025.3_Missense_Mutation_p.E2570Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E2603Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2570					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATAGAAAAAGAGAAAGATTC	0.323																																																	0													50	46	47					14																	64518339		1800	4076	5876	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7708G>C	14.37:g.64518339G>C	ENSP00000341781:p.Glu2570Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2570Q	ENST00000344113.4	37	c.7708	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495686	0.12762	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56444	1.44;1.44;0.46	5.9	4.99	0.66335	.	0.096556	0.44902	N	0.000419	T	0.36468	0.0968	N	0.20986	0.625	0.80722	D	1	P;P	0.40211	0.583;0.707	B;B	0.33254	0.077;0.16	T	0.16158	-1.0412	10	0.31617	T	0.26	.	15.0924	0.72204	0.0:0.146:0.854:0.0	.	2570;2570	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	2570;2570;2603;2603	ENSP00000350719:E2570Q;ENSP00000341781:E2570Q;ENSP00000452570:E2603Q	ENSP00000261678:E2603Q	E	+	1	0	SYNE2	63588092	1.000000	0.71417	0.994000	0.49952	0.207000	0.24258	4.706000	0.61845	1.455000	0.47813	0.650000	0.86243	GAG	SYNE2	-	NULL		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64518339	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64518339	G	C	64518339	3	2	151	1	0	0	0	0	1	0	0	0	15476	943	33	1	7894	1	SYNE2	14	64518339	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9204503	64518339	42831201	651	25284										
SYNE2	23224	genome.wustl.edu	37	chr14	64518362	64518362	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaagattctttaggcaacttGaaaatcaaatgggagaattt	8	4	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:64518362G>T	ENST00000344113.4	+	48	7943	c.7731G>T	c.(7729-7731)ttG>ttT	p.L2577F	SYNE2_ENST00000358025.3_Missense_Mutation_p.L2577F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2610F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2577					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGGCAACTTGAAAATCAAAT	0.358																																																	0													63	58	60					14																	64518362		1811	4075	5886	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7731G>T	14.37:g.64518362G>T	ENSP00000341781:p.Leu2577Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2577F	ENST00000344113.4	37	c.7731	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	5.901	0.350269	0.11182	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.78481	0.86;0.86;-1.18	5.9	2.46	0.29980	.	0.401196	0.20457	N	0.091962	T	0.63721	0.2535	L	0.27053	0.805	0.36558	D	0.872262	B;B	0.31318	0.214;0.319	B;B	0.29716	0.049;0.106	T	0.66122	-0.6002	10	0.62326	D	0.03	.	9.4349	0.38632	0.0717:0.0:0.6036:0.3247	.	2577;2577	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	2577;2577;2610;2610	ENSP00000350719:L2577F;ENSP00000341781:L2577F;ENSP00000452570:L2610F	ENSP00000261678:L2610F	L	+	3	2	SYNE2	63588115	1.000000	0.71417	0.055000	0.19348	0.015000	0.08874	1.583000	0.36579	0.657000	0.30906	0.650000	0.86243	TTG	SYNE2	-	NULL		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64518362	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.229	T	T	64518362	G	T	64518362	3	4	151	1	0	0	0	0	1	0	0	0	15476	1281	45	3	7917	3	SYNE2	14	64518362	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	23	64518362	42831178	652	25285										
STON2	85439	genome.wustl.edu	37	chr14	81837384	81837384	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtctgctcctcagcattgatGagctgcagatctgtatacga	10	10	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:81837384G>A	ENST00000267540.2	-	3	719	c.519C>T	c.(517-519)ctC>ctT	p.L173L	STON2_ENST00000555447.1_Silent_p.L173L	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	173					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGCATTGATGAGCTGCAGAT	0.532																																																	0													102	92	95					14																	81837384		2203	4300	6503	SO:0001819	synonymous_variant	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.519C>T	14.37:g.81837384G>A			G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.L173	ENST00000267540.2	37	c.519	CCDS9875.1	14																																																																																			STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.532	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	G	NM_033104		81837384	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	silent	SNP	0.223	A	A	81837384	G	A	81837384	2	1	151	1	0	0	0	0	0	0	0	1	15348	1277	45	1		1	STON2	14	81837384	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	17319022	81837384	25512156	653	25286										
KCNK13	56659	genome.wustl.edu	37	chr14	90650517	90650517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttctgatcttttacggccttGttgggtgttccagcaccatc	9	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:90650517G>C	ENST00000282146.4	+	2	838	c.397G>C	c.(397-399)Gtt>Ctt	p.V133L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	133					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTACGGCCTTGTTGGGTGTTC	0.502																																																	0													113	120	118					14																	90650517		2203	4300	6503	SO:0001583	missense	56659			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.397G>C	14.37:g.90650517G>C	ENSP00000282146:p.Val133Leu		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.V133L	ENST00000282146.4	37	c.397	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	2.539	-0.306727	0.05458	.	.	ENSG00000152315	ENST00000282146	T	0.28454	1.61	5.31	-7.78	0.01223	Ion transport 2 (1);	0.660459	0.12487	N	0.464632	T	0.10937	0.0267	N	0.13299	0.325	0.24613	N	0.993713	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.09338	T	0.73	.	7.0159	0.24887	0.4508:0.208:0.3412:0.0	.	133	Q9HB14	KCNKD_HUMAN	L	133	ENSP00000282146:V133L	ENSP00000282146:V133L	V	+	1	0	KCNK13	89720270	0.601000	0.26907	0.481000	0.27354	0.227000	0.25037	0.313000	0.19415	-1.868000	0.01142	-0.889000	0.02933	GTT	KCNK13	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl		0.502	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	G	NM_022054		90650517	1	no_errors	ENST00000282146	ensembl	human	known	70_37	missense	SNP	0.411	C	C	90650517	G	C	90650517	3	2	151	1	0	0	0	0	1	0	0	0	8081	1377	48	4	403	4	KCNK13	14	90650517	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8813133	90650517	16699023	654	25287										
C14orf184	0	genome.wustl.edu	37	chr14	92040885	92040885	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctccgggaacggccccagtGagcagaagagctgggtctgg	16	11	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:92040885G>C	ENST00000596306.1	-	1	498	c.72C>G	c.(70-72)ctC>ctG	p.L24L																								CGGCCCCAGTGAGCAGAAGAG	0.597																																																	0													15	17	16					14																	92040885		1946	4145	6091	SO:0001819	synonymous_variant	0																														ENST00000596306.1:c.72C>G	14.37:g.92040885G>C				Silent	SNP	NULL	p.L24	ENST00000596306.1	37	c.72		14																																																																																			AL133373.1	-	NULL		0.597	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268657	Clone_based_ensembl_gene	protein_coding		G			92040885	-1	no_errors	ENST00000596306	ensembl	human	known	70_37	silent	SNP	0.001	C	C	92040885	G	C	92040885	2	2	151	1	0	0	0	0	0	0	0	1	1771	1277	45	1		1	C14orf184	14	92040885	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1390368	92040885	15308655	655	25288										
C14orf184	0	genome.wustl.edu	37	chr14	92040948	92040948	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccatggttgactaatttaggGacactcatggctctggactc	10	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:92040948G>A	ENST00000596306.1	-	1	435	c.9C>T	c.(7-9)gtC>gtT	p.V3V																								CTAATTTAGGGACACTCATGG	0.562																																																	0													9	10	10					14																	92040948		1934	4124	6058	SO:0001819	synonymous_variant	0																														ENST00000596306.1:c.9C>T	14.37:g.92040948G>A				Silent	SNP	NULL	p.V3	ENST00000596306.1	37	c.9		14																																																																																			AL133373.1	-	NULL		0.562	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268657	Clone_based_ensembl_gene	protein_coding		G			92040948	-1	no_errors	ENST00000596306	ensembl	human	known	70_37	silent	SNP	0.001	A	A	92040948	G	A	92040948	2	1	151	1	0	0	0	0	0	0	0	1	1771	1161	41	1		1	C14orf184	14	92040948	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	63	92040948	15308592	656	25289										
CATSPERB	79820	genome.wustl.edu	37	chr14	92126271	92126271	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtcttctttatgatatcatCatgaaagttagctattaatt	5	5	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:92126271C>T	ENST00000256343.3	-	15	1498	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	448					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATGATATCATCATGAAAGTTA	0.343																																																	0													79	80	80					14																	92126271		2203	4299	6502	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1342G>A	14.37:g.92126271C>T	ENSP00000256343:p.Asp448Asn		A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D448N	ENST00000256343.3	37	c.1342	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	0	-2.583325	0.00129	.	.	ENSG00000133962	ENST00000256343	T	0.48201	0.82	4.58	1.68	0.24146	.	2.055120	0.02314	N	0.072406	T	0.31857	0.0810	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.15235	-1.0444	10	0.21014	T	0.42	0.209	7.1917	0.25828	0.0:0.6795:0.1425:0.178	.	448	Q9H7T0	CTSRB_HUMAN	N	448	ENSP00000256343:D448N	ENSP00000256343:D448N	D	-	1	0	CATSPERB	91196024	0.000000	0.05858	0.003000	0.11579	0.070000	0.16714	-0.365000	0.07573	-0.107000	0.12088	-1.164000	0.01763	GAT	CATSPERB	-	superfamily_Neuraminidase		0.343	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92126271	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	missense	SNP	0.000	T	T	92126271	C	T	92126271	3	4	151	1	0	0	0	0	1	0	0	0	2696	826	29	1	2060	1	CATSPERB	14	92126271	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	85323	92126271	15223269	657	25290										
KIAA1409	57578	genome.wustl.edu	37	chr14	94066945	94066945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttgtcttgacttccagtttGatactgtggttaaagacaga	9	6	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:94066945G>C	ENST00000393151.2	+	25	3403	c.3403G>C	c.(3403-3405)Gat>Cat	p.D1135H	UNC79_ENST00000256339.4_Missense_Mutation_p.D958H|UNC79_ENST00000553484.1_Missense_Mutation_p.D1135H|UNC79_ENST00000555664.1_Missense_Mutation_p.D1135H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1135					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTCCAGTTTGATACTGTGGT	0.378																																																	0													78	72	74					14																	94066945		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3403G>C	14.37:g.94066945G>C	ENSP00000376858:p.Asp1135His		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1135H	ENST00000393151.2	37	c.3403		14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676245	0.88445	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26957	1.7;1.7;1.72;1.7	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.64170	1.965	0.58432	D	0.999996	D	0.89917	1.0	D	0.74348	0.983	T	0.48281	-0.9049	10	0.87932	D	0	-22.6716	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1135	C9JQL1	.	H	958;1135;1135;1135;1135	ENSP00000256339:D958H;ENSP00000450868:D1135H;ENSP00000451360:D1135H;ENSP00000376858:D1135H	ENSP00000256339:D958H	D	+	1	0	KIAA1409	93136698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GAT	UNC79	-	superfamily_ARM-type_fold		0.378	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94066945	1	no_errors	ENST00000553484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94066945	G	C	94066945	3	2	151	1	0	0	0	0	1	0	0	0	8250	1290	45	1	2958	1	KIAA1409	14	94066945	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1940674	94066945	13282595	658	25291										
OCA2	4948	genome.wustl.edu	37	chr15	28202762	28202762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtgtgcagcctccgggcgaGcaggtgctccagtgccagca	16	13	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:28202762G>T	ENST00000354638.3	-	16	1911	c.1756C>A	c.(1756-1758)Ctc>Atc	p.L586I	OCA2_ENST00000382996.2_Missense_Mutation_p.L586I|OCA2_ENST00000353809.5_Missense_Mutation_p.L562I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	586					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCGGGCGAGCAGGTGCTCC	0.657									Oculocutaneous Albinism																																								0													35	38	37					15																	28202762		2198	4289	6487	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1756C>A	15.37:g.28202762G>T	ENSP00000346659:p.Leu586Ile		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.L586I	ENST00000354638.3	37	c.1756	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237585	0.58886	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91792	-2.91;-2.65;-2.9	5.8	4.89	0.63831	Divalent ion symporter (1);	0.000000	0.64402	D	0.000001	D	0.94298	0.8168	M	0.71206	2.165	0.45129	D	0.998148	P;D	0.56746	0.537;0.977	P;D	0.65323	0.493;0.934	D	0.93683	0.7000	10	0.52906	T	0.07	-14.3643	8.8022	0.34916	0.1686:0.0:0.8314:0.0	.	562;586	Q04671-2;Q04671	.;P_HUMAN	I	586;562;586	ENSP00000346659:L586I;ENSP00000261276:L562I;ENSP00000372457:L586I	ENSP00000261276:L562I	L	-	1	0	OCA2	25876357	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	4.786000	0.62425	1.459000	0.47892	0.591000	0.81541	CTC	OCA2	-	pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB		0.657	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	G	NM_000275		28202762	-1	no_errors	ENST00000354638	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28202762	G	T	28202762	3	4	151	1	0	0	0	0	1	0	0	0	10839	971	34	4	796	4	OCA2	15	28202762	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		28202762	74328630	659	25292										
APBA2	321	genome.wustl.edu	37	chr15	29346175	29346175	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccctcacagccaggagcccGagagcgaggacatggagctg	14	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:29346175G>C	ENST00000558402.1	+	5	687	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	APBA2_ENST00000411764.1_Missense_Mutation_p.E30Q|APBA2_ENST00000558330.1_Missense_Mutation_p.E30Q|APBA2_ENST00000558259.1_Missense_Mutation_p.E30Q|APBA2_ENST00000561069.1_Missense_Mutation_p.E30Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	30					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCAGGAGCCCGAGAGCGAGGA	0.667																																																	0													44	49	47					15																	29346175		2203	4300	6503	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.88G>C	15.37:g.29346175G>C	ENSP00000453293:p.Glu30Gln		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.E30Q	ENST00000558402.1	37	c.88	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.52526	0.66	5.06	2.77	0.32553	.	0.345014	0.28198	N	0.016238	T	0.39835	0.1093	L	0.59436	1.845	0.09310	N	1	B;B;B	0.26975	0.165;0.165;0.165	B;B;B	0.25405	0.06;0.055;0.055	T	0.32375	-0.9909	10	0.45353	T	0.12	.	7.4055	0.26987	0.1621:0.1527:0.6852:0.0	.	30;30;30	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	Q	30	ENSP00000409312:E30Q	ENSP00000219865:E30Q	E	+	1	0	APBA2	27133467	0.910000	0.30920	0.010000	0.14722	0.004000	0.04260	2.794000	0.47853	1.079000	0.41038	0.650000	0.86243	GAG	APBA2	-	NULL		0.667	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	G	NM_005503		29346175	1	no_errors	ENST00000558259	ensembl	human	known	70_37	missense	SNP	0.016	C	C	29346175	G	C	29346175	3	2	151	1	0	0	0	0	1	0	0	0	757	1059	37	1	90	1	APBA2	15	29346175	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1143413	29346175	73185217	660	25293										
TJP1	7082	genome.wustl.edu	37	chr15	30034879	30034879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtttgtttctcatttctttCaactgtaacttcttccactg	4	10	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:30034879C>G	ENST00000346128.6	-	9	1591	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	TJP1_ENST00000545208.2_Missense_Mutation_p.E373Q|TJP1_ENST00000356107.6_Missense_Mutation_p.E373Q|TJP1_ENST00000400011.2_Missense_Mutation_p.E377Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	373					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATTTCTTTCAACTGTAACT	0.378																																					Melanoma(77;681 1843 6309 6570)												0													234	210	218					15																	30034879		1907	4122	6029	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1117G>C	15.37:g.30034879C>G	ENSP00000281537:p.Glu373Gln		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.E373Q	ENST00000346128.6	37	c.1117	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553971	0.65425	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.06687	3.27;3.42;3.33;3.27	5.73	5.73	0.89815	.	0.166082	0.53938	D	0.000046	T	0.11707	0.0285	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.47302	0.883;0.692;0.893;0.867	B;B;B;B	0.43575	0.424;0.39;0.4;0.369	T	0.05162	-1.0902	9	.	.	.	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	366;373;373;377	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Q	373;377;373;373;373	ENSP00000281537:E373Q;ENSP00000382890:E377Q;ENSP00000441202:E373Q;ENSP00000348416:E373Q	.	E	-	1	0	TJP1	27822171	1.000000	0.71417	0.104000	0.21259	0.930000	0.56654	5.338000	0.65947	2.707000	0.92482	0.561000	0.74099	GAA	TJP1	-	prints_ZonOcculS1		0.378	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	C	NM_003257		30034879	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	0.924	G	G	30034879	C	G	30034879	3	3	151	1	0	0	0	0	1	0	0	0	15959	835	29	1	4209	1	TJP1	15	30034879	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	688704	30034879	72496513	661	25294										
TRPM1	4308	genome.wustl.edu	37	chr15	31295118	31295118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accgtgcctggatcaggtcaGacctgtcgattcccgcaaga	11	13	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:31295118G>C	ENST00000256552.6	-	28	3932	c.3785C>G	c.(3784-3786)tCt>tGt	p.S1262C	TRPM1_ENST00000542188.1_Missense_Mutation_p.S1279C|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1240C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATCAGGTCAGACCTGTCGAT	0.483																																																	0													104	103	103					15																	31295118		2023	4191	6214	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3785C>G	15.37:g.31295118G>C	ENSP00000256552:p.Ser1262Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S1279C	ENST00000256552.6	37	c.3836	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651713	0.14516	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.11604	2.76;2.76;2.76	5.2	4.27	0.50696	.	0.523497	0.22116	N	0.064410	T	0.11793	0.0287	L	0.35854	1.095	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.17722	0.019;0.005	T	0.18272	-1.0342	10	0.72032	D	0.01	-2.7635	15.8001	0.78447	0.0:0.1363:0.8637:0.0	.	1234;1240	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1240;1279;1262;1240	ENSP00000380897:S1240C;ENSP00000437849:S1279C;ENSP00000256552:S1262C	ENSP00000256552:S1262C	S	-	2	0	TRPM1	29082410	0.229000	0.23729	0.002000	0.10522	0.392000	0.30506	3.154000	0.50693	1.172000	0.42781	0.650000	0.86243	TCT	TRPM1	-	NULL		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31295118	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	0.020	C	C	31295118	G	C	31295118	3	2	151	1	0	0	0	0	1	0	0	0	16616	942	33	1	1096	1	TRPM1	15	31295118	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1260239	31295118	71236274	662	25295										
RYR3	6263	genome.wustl.edu	37	chr15	34109084	34109084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caccgctctattaacctcttCctccatggctatcagagatt	5	14	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:34109084C>A	ENST00000389232.4	+	75	10594	c.10524C>A	c.(10522-10524)ttC>ttA	p.F3508L	RYR3_ENST00000415757.3_Missense_Mutation_p.F3503L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3508					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAACCTCTTCCTCCATGGCT	0.463																																																	0													72	68	69					15																	34109084		1882	4107	5989	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10524C>A	15.37:g.34109084C>A	ENSP00000373884:p.Phe3508Leu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F3508L	ENST00000389232.4	37	c.10524	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699137	0.68501	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.98419	-4.92	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.80508	2.5	0.58432	D	0.999998	D;D	0.71674	0.99;0.998	D;D	0.81914	0.979;0.995	D	0.99811	1.1041	10	0.72032	D	0.01	.	18.7322	0.91739	0.0:1.0:0.0:0.0	.	3503;3508	Q15413-2;Q15413	.;RYR3_HUMAN	L	3508;3507;3503	ENSP00000373884:F3508L	ENSP00000354735:F3503L	F	+	3	2	RYR3	31896376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.650000	0.89964	0.655000	0.94253	TTC	RYR3	-	superfamily_ARM-type_fold		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34109084	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34109084	C	A	34109084	3	1	151	1	0	0	0	0	1	0	0	0	13800	854	30	3	10822	3	RYR3	15	34109084	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2813966	34109084	68422308	663	25296										
BAHD1	22893	genome.wustl.edu	37	chr15	40751231	40751231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtctccagagccagcacccGatgaaggtccccgccgagat	11	15	1	3	rs199651782		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:40751231G>A	ENST00000416165.1	+	2	639	c.568G>A	c.(568-570)Gat>Aat	p.D190N	BAHD1_ENST00000561234.1_Missense_Mutation_p.D190N|BAHD1_ENST00000560846.1_Missense_Mutation_p.D190N	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	190					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCAGCACCCGATGAAGGTCC	0.642																																																	0								G	ASN/ASP	0,4398		0,0,2199	26	32	30		568	5	0.7	15		30	4,8596		0,4,4296	yes	missense	BAHD1	NM_014952.3	23	0,4,6495	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	190/781	40751231	4,12994	2199	4300	6499	SO:0001583	missense	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.568G>A	15.37:g.40751231G>A	ENSP00000396976:p.Asp190Asn		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.D190N	ENST00000416165.1	37	c.568	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511413	0.85389	0.0	4.65E-4	ENSG00000140320	ENST00000416165	T	0.19105	2.17	4.99	4.99	0.66335	.	0.199330	0.42294	D	0.000721	T	0.14570	0.0352	N	0.14661	0.345	0.44579	D	0.997547	P;P;P	0.43750	0.816;0.72;0.816	B;B;B	0.37451	0.25;0.127;0.25	T	0.05257	-1.0896	10	0.48119	T	0.1	-6.819	18.8304	0.92137	0.0:0.0:1.0:0.0	.	190;190;190	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	N	190	ENSP00000396976:D190N	ENSP00000396976:D190N	D	+	1	0	BAHD1	38538523	1.000000	0.71417	0.734000	0.30879	0.853000	0.48598	6.164000	0.71885	2.746000	0.94184	0.650000	0.86243	GAT	BAHD1	-	NULL		0.642	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	G	NM_014952		40751231	1	no_errors	ENST00000416165	ensembl	human	known	70_37	missense	SNP	0.982	A	A	40751231	G	A	40751231	3	1	151	1	0	0	0	0	1	0	0	0	1298	1058	37	1	570	1	BAHD1	15	40751231	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6642147	40751231	61780161	664	25297										
TCF12	6938	genome.wustl.edu	37	chr15	57544626	57544626	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgactttgccagaaaaatcGagttgagcagcaacttcacg	9	9	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:57544626G>A	ENST00000267811.5	+	15	1492				TCF12_ENST00000559710.1_Intron|TCF12_ENST00000343827.3_Intron|TCF12_ENST00000438423.2_Missense_Mutation_p.R399Q|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000452095.2_Missense_Mutation_p.R395Q|TCF12_ENST00000543579.1_Missense_Mutation_p.R229Q|TCF12_ENST00000333725.5_Missense_Mutation_p.R399Q|TCF12_ENST00000559703.1_Missense_Mutation_p.R33Q	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R399L(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGAAAAATCGAGTTGAGCAG	0.398			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	2	Substitution - Missense(2)	lung(2)											126	104	112					15																	57544626		2192	4292	6484	SO:0001627	intron_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1189-834G>A	15.37:g.57544626G>A			Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R399Q	ENST00000267811.5	37	c.1196	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597803	0.87055	.	.	ENSG00000140262	ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000007	T	0.69450	0.3112	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.998	D;D;D;D	0.79108	0.968;0.992;0.986;0.986	T	0.61681	-0.7013	10	0.22109	T	0.4	-7.913	19.9601	0.97247	0.0:0.0:1.0:0.0	.	229;395;229;399	B4DH96;E9PGY0;F5GY10;Q99081-3	.;.;.;.	Q	399;395;399;229	ENSP00000388940:R399Q;ENSP00000396881:R395Q;ENSP00000331057:R399Q;ENSP00000440017:R229Q	ENSP00000331057:R399Q	R	+	2	0	TCF12	55331918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.720000	0.93068	0.655000	0.94253	CGA	TCF12	-	NULL		0.398	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	G	NM_003205		57544626	1	no_errors	ENST00000438423	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57544626	G	A	57544626	1	1	151	0	1	0	0	0	0	0	0	0	15717	1058	37	1		1	TCF12	15	57544626	Intron	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	16793395	57544626	44986766	665	25298										
TLN2	83660	genome.wustl.edu	37	chr15	62966062	62966062	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccaaagaatatatcaagcaGagaggagctgaaaagaggat	11	6	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:62966062G>A	ENST00000561311.1	+	9	1055	c.825G>A	c.(823-825)caG>caA	p.Q275Q	TLN2_ENST00000306829.6_Silent_p.Q275Q			Q9Y4G6	TLN2_HUMAN	talin 2	275	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATATCAAGCAGAGAGGAGCTG	0.398																																																	0													128	138	135					15																	62966062		2203	4300	6503	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.825G>A	15.37:g.62966062G>A			A6NLB8	Silent	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.Q275	ENST00000561311.1	37	c.825	CCDS32261.1	15																																																																																			TLN2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.398	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	G			62966062	1	no_errors	ENST00000306829	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62966062	G	A	62966062	2	1	151	1	0	0	0	0	0	0	0	1	15978	933	33	1		1	TLN2	15	62966062	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5421436	62966062	39565330	666	25299										
OAZ2	4947	genome.wustl.edu	37	chr15	64981340	64981340	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atagttcactttcatcttctCttcagcaaactctagcagtg	5	11	6	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:64981340C>G	ENST00000326005.6	-	5	614	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	OAZ2_ENST00000560258.2_Intron|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'Flank			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	128					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	TTCATCTTCTCTTCAGCAAAC	0.517																																																	0													43	44	44					15																	64981340		2166	4277	6443	SO:0001583	missense	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.382G>C	15.37:g.64981340C>G	ENSP00000463013:p.Glu128Gln			Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.E128Q	ENST00000326005.6	37	c.382	CCDS58372.1	15	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738703	0.49045	.	.	ENSG00000180304	ENST00000326005;ENST00000403937	.	.	.	5.45	5.45	0.79879	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.91090	3.175	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	D	0.86610	0.1872	9	0.49607	T	0.09	.	19.2493	0.93917	0.0:1.0:0.0:0.0	.	128	O95190	OAZ2_HUMAN	Q	126	.	ENSP00000316264:E126Q	E	-	1	0	OAZ2	62768393	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.484000	0.81180	2.723000	0.93209	0.650000	0.86243	GAG	OAZ2	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	C	NM_002537		64981340	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64981340	C	G	64981340	3	3	151	1	0	0	0	0	1	0	0	0	10829	922	32	1	195	1	OAZ2	15	64981340	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2015278	64981340	37550052	667	25300										
OAZ2	4947	genome.wustl.edu	37	chr15	64981356	64981356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttctcttcagcaaactctagCagtgctaacaatctgcagga	7	11	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:64981356C>T	ENST00000326005.6	-	5	598	c.366G>A	c.(364-366)ctG>ctA	p.L122L	OAZ2_ENST00000560258.2_Intron|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'Flank			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	122					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	CAAACTCTAGCAGTGCTAACA	0.522																																																	0													40	41	41					15																	64981356		2141	4266	6407	SO:0001819	synonymous_variant	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.366G>A	15.37:g.64981356C>T				Silent	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.L122	ENST00000326005.6	37	c.366	CCDS58372.1	15																																																																																			OAZ2	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.522	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	C	NM_002537		64981356	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64981356	C	T	64981356	2	4	151	1	0	0	0	0	0	0	0	1	10829	697	25	4		4	OAZ2	15	64981356	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	16	64981356	37550036	668	25301										
LRRC49	54839	genome.wustl.edu	37	chr15	71211448	71211448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agagttttaaatcttgccagGaactttttaagtcatgttga	8	5	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:71211448G>C	ENST00000260382.5	+	7	887	c.627G>C	c.(625-627)agG>agC	p.R209S	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R199S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R214S|LRRC49_ENST00000443425.2_Missense_Mutation_p.R165S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	209						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATCTTGCCAGGAACTTTTTAA	0.328																																																	0													119	123	122					15																	71211448		2199	4297	6496	SO:0001583	missense	54839				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.627G>C	15.37:g.71211448G>C	ENSP00000260382:p.Arg209Ser		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R209S	ENST00000260382.5	37	c.627	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982031	0.18812	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.53423	0.62;0.62;0.62	5.48	-1.45	0.08828	.	0.049579	0.85682	D	0.000000	T	0.25644	0.0624	N	0.11651	0.15	0.39108	D	0.961421	B;B;B;B;B	0.30870	0.225;0.298;0.202;0.256;0.257	B;B;B;B;B	0.39379	0.095;0.181;0.074;0.298;0.065	T	0.03829	-1.1000	10	0.21540	T	0.41	-19.7807	6.2328	0.20744	0.4279:0.1283:0.4439:0.0	.	214;181;165;209;199	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	199;209;165;181	ENSP00000439600:R199S;ENSP00000260382:R209S;ENSP00000414065:R165S	ENSP00000260382:R209S	R	+	3	2	LRRC49	68998502	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	0.466000	0.22019	-0.102000	0.12197	-1.000000	0.02509	AGG	LRRC49	-	smart_Leu-rich_rpt_typical-subtyp		0.328	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	G	NM_017691		71211448	1	no_errors	ENST00000260382	ensembl	human	known	70_37	missense	SNP	0.981	C	C	71211448	G	C	71211448	3	2	151	1	0	0	0	0	1	0	0	0	9029	1165	41	1	653	1	LRRC49	15	71211448	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	6230092	71211448	31319944	669	25302										
ALPK3	57538	genome.wustl.edu	37	chr15	85370781	85370781	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgctatttgagaccacgctCaagtcccggtctgtgtccga	10	14	2	1	rs373111546		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:85370781C>T	ENST00000258888.5	+	3	1022	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	285	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACCACGCTCAAGTCCCGGT	0.562																																																	0													93	70	78					15																	85370781		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.855C>T	15.37:g.85370781C>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L285	ENST00000258888.5	37	c.855	CCDS10333.1	15																																																																																			ALPK3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.562	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	C	NM_020778		85370781	1	no_errors	ENST00000258888	ensembl	human	known	70_37	silent	SNP	1.000	T	T	85370781	C	T	85370781	2	4	151	1	0	0	0	0	0	0	0	1	546	813	29	1		1	ALPK3	15	85370781	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	14159333	85370781	17160611	670	25303										
WDR93	56964	genome.wustl.edu	37	chr15	90276398	90276398	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcacagacgcctccctccatCtggtggaggctagcgggacc	13	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:90276398C>G	ENST00000268130.7	+	13	1593	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	WDR93_ENST00000560294.1_Missense_Mutation_p.L470V|WDR93_ENST00000444934.2_Missense_Mutation_p.L215V	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	498					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCCTCCATCTGGTGGAGGC	0.488																																																	0													74	74	74					15																	90276398		2200	4299	6499	SO:0001583	missense	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1492C>G	15.37:g.90276398C>G	ENSP00000268130:p.Leu498Val		Q8N7Y8|Q9NP89	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L498V	ENST00000268130.7	37	c.1492	CCDS32326.1	15	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440763	0.43326	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.28666	1.6;2.37	5.6	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.52532	D	0.000069	T	0.49830	0.1580	M	0.73598	2.24	0.27934	N	0.937755	D;D	0.76494	0.999;0.999	D;D	0.71870	0.937;0.975	T	0.46857	-0.9161	10	0.15499	T	0.54	-14.844	11.6869	0.51492	0.1772:0.8228:0.0:0.0	.	470;498	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	V	498;215	ENSP00000268130:L498V;ENSP00000403871:L215V	ENSP00000268130:L498V	L	+	1	2	WDR93	88077402	0.980000	0.34600	0.742000	0.31022	0.411000	0.31082	2.640000	0.46579	1.325000	0.45301	0.551000	0.68910	CTG	WDR93	-	superfamily_WD40_repeat_dom		0.488	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	C	NM_020212		90276398	1	no_errors	ENST00000268130	ensembl	human	known	70_37	missense	SNP	0.965	G	G	90276398	C	G	90276398	3	3	151	1	0	0	0	0	1	0	0	0	17371	912	32	1	1538	1	WDR93	15	90276398	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4905617	90276398	12254994	671	25304										
NGRN	51335	genome.wustl.edu	37	chr15	90814635	90814635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaatacctcaaagctgctccCtgcaggccactctgtatcag	7	14	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:90814635C>T	ENST00000379095.3	+	3	499	c.491C>T	c.(490-492)cCt>cTt	p.P164L	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	164					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGCTGCTCCCTGCAGGCCAC	0.517																																																	0													42	46	45					15																	90814635		2199	4298	6497	SO:0001583	missense	51335			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.491C>T	15.37:g.90814635C>T	ENSP00000368389:p.Pro164Leu		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	pfam_Neugrin-related	p.P164L	ENST00000379095.3	37	c.491	CCDS32329.1	15	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340112	0.41398	.	.	ENSG00000182768	ENST00000379095	T	0.32988	1.43	4.17	1.04	0.20106	.	1.691440	0.03527	U	0.221956	T	0.24314	0.0589	L	0.38175	1.15	0.34059	D	0.657027	B	0.30563	0.285	B	0.28916	0.096	T	0.28839	-1.0031	10	0.17832	T	0.49	.	7.2838	0.26326	0.0:0.5565:0.3429:0.1005	.	164	Q9NPE2	NGRN_HUMAN	L	164	ENSP00000368389:P164L	ENSP00000368389:P164L	P	+	2	0	NGRN	88615639	0.695000	0.27747	0.905000	0.35620	0.277000	0.26821	1.425000	0.34859	0.450000	0.26774	0.557000	0.71058	CCT	NGRN	-	pfam_Neugrin-related		0.517	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	HGNC	protein_coding	OTTHUMT00000313418.1	C			90814635	1	no_errors	ENST00000379095	ensembl	human	known	70_37	missense	SNP	0.576	T	T	90814635	C	T	90814635	3	4	151	1	0	0	0	0	1	0	0	0	10423	681	24	4	501	4	NGRN	15	90814635	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	538237	90814635	11716757	672	25305										
NGRN	51335	genome.wustl.edu	37	chr15	90814647	90814647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgctccctgcaggccactCtgtatcaggctctttgctta	9	14	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:90814647C>T	ENST00000379095.3	+	3	511	c.503C>T	c.(502-504)tCt>tTt	p.S168F	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	168					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V97fs*20(1)|p.V169fs*20(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCAGGCCACTCTGTATCAGGC	0.512																																																	2	Deletion - Frameshift(2)	large_intestine(2)											45	49	47					15																	90814647		2199	4298	6497	SO:0001583	missense	51335			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.503C>T	15.37:g.90814647C>T	ENSP00000368389:p.Ser168Phe		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	pfam_Neugrin-related	p.S168F	ENST00000379095.3	37	c.503	CCDS32329.1	15	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440085	0.43326	.	.	ENSG00000182768	ENST00000379095	T	0.35421	1.31	3.96	2.02	0.26589	.	0.818235	0.10572	U	0.659001	T	0.44664	0.1304	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.55161	0.77	T	0.36261	-0.9755	10	0.72032	D	0.01	.	2.2451	0.04029	0.2044:0.4876:0.1977:0.1103	.	168	Q9NPE2	NGRN_HUMAN	F	168	ENSP00000368389:S168F	ENSP00000368389:S168F	S	+	2	0	NGRN	88615651	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.894000	0.28350	0.992000	0.38840	-0.310000	0.09108	TCT	NGRN	-	pfam_Neugrin-related		0.512	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	HGNC	protein_coding	OTTHUMT00000313418.1	C			90814647	1	no_errors	ENST00000379095	ensembl	human	known	70_37	missense	SNP	0.000	T	T	90814647	C	T	90814647	3	4	151	1	0	0	0	0	1	0	0	0	10423	913	32	1	513	1	NGRN	15	90814647	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	12	90814647	11716745	673	25306										
ST8SIA2	8128	genome.wustl.edu	37	chr15	92988086	92988086	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcgtgttgagtgggtcaacGagcttatcctgaagcaccac	12	10	1	2	rs147607028		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:92988086G>T	ENST00000268164.3	+	5	1006	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.E236*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	257					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGTCAACGAGCTTATCCT	0.642																																																	0													95	73	81					15																	92988086		2198	4298	6496	SO:0001587	stop_gained	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.769G>T	15.37:g.92988086G>T	ENSP00000268164:p.Glu257*		Q4VAZ0|Q92470|Q92746	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E257*	ENST00000268164.3	37	c.769	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.234294	0.97399	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	.	.	.	5.64	4.73	0.59995	.	0.416366	0.28718	N	0.014373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.1741	14.4104	0.67111	0.0709:0.0:0.9291:0.0	.	.	.	.	X	257;236;214	.	ENSP00000268164:E257X	E	+	1	0	ST8SIA2	90789090	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.944000	0.70219	1.382000	0.46385	0.561000	0.74099	GAG	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.642	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	G	NM_006011		92988086	1	no_errors	ENST00000268164	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	92988086	G	T	92988086	4	4	151	1	0	0	0	0	0	1	0	0	15262	1059	37	3	787	3	ST8SIA2	15	92988086	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2173439	92988086	9543306	674	25307										
MEF2A	4205	genome.wustl.edu	37	chr15	100230473	100230473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atttgtaaactcaagagcttCtccaaatttgattggagcta	7	7	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:100230473C>T	ENST00000557785.1	+	8	1047	c.698C>T	c.(697-699)tCt>tTt	p.S233F	MEF2A_ENST00000338042.6_Missense_Mutation_p.S233F|MEF2A_ENST00000449277.2_Missense_Mutation_p.S165F|MEF2A_ENST00000558812.1_Missense_Mutation_p.S165F|MEF2A_ENST00000453228.2_Missense_Mutation_p.S233F|MEF2A_ENST00000557942.1_Missense_Mutation_p.S233F|MEF2A_ENST00000354410.5_Missense_Mutation_p.S235F	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	235					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCAAGAGCTTCTCCAAATTTG	0.393																																																	0													40	37	38					15																	100230473		1804	4076	5880	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.698C>T	15.37:g.100230473C>T	ENSP00000453441:p.Ser233Phe		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.S233F	ENST00000557785.1	37	c.698	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810669	0.90707	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.65916	-0.18;-0.16;-0.18;0.35	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.76838	2.35	0.49582	D	0.999809	D;D;D;D;D;D	0.89917	0.998;0.999;0.997;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.997;0.996;0.988;0.998;0.999;0.996	T	0.82398	-0.0477	10	0.87932	D	0	-22.6897	19.8623	0.96787	0.0:1.0:0.0:0.0	.	235;165;154;233;235;233	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	F	233;235;233;165	ENSP00000404110:S233F;ENSP00000346389:S235F;ENSP00000337202:S233F;ENSP00000399460:S165F	ENSP00000337202:S233F	S	+	2	0	MEF2A	98047996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.769000	0.95229	0.650000	0.86243	TCT	MEF2A	-	NULL		0.393	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	C			100230473	1	no_errors	ENST00000338042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100230473	C	T	100230473	3	4	151	1	0	0	0	0	1	0	0	0	9478	913	32	1	862	1	MEF2A	15	100230473	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7242387	100230473	2300919	675	25308										
WDR24	84219	genome.wustl.edu	37	chr16	739196	739196	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agagtcctttctgcggaggtCaaagcacttcatgaagccat	10	10	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:739196C>G	ENST00000248142.6	-	3	630	c.631G>C	c.(631-633)Gac>Cac	p.D211H	WDR24_ENST00000293883.4_Missense_Mutation_p.D149H|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	211										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCGGAGGTCAAAGCACTTC	0.602																																																	0													85	77	80					16																	739196		2200	4300	6500	SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.631G>C	16.37:g.739196C>G	ENSP00000248142:p.Asp211His		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D211H	ENST00000248142.6	37	c.631		16	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584662	0.65992	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.47177	0.85;0.85	5.14	5.14	0.70334	.	0.104243	0.64402	D	0.000004	T	0.77336	0.4115	M	0.93808	3.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83964	0.0323	10	0.72032	D	0.01	-19.0088	17.5824	0.87972	0.0:1.0:0.0:0.0	.	149	Q96S15-2	.	H	211;149	ENSP00000248142:D211H;ENSP00000293883:D149H	ENSP00000248142:D211H	D	-	1	0	WDR24	679197	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.218000	0.77991	2.391000	0.81399	0.561000	0.74099	GAC	WDR24	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.602	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		739196	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	missense	SNP	1.000	G	G	739196	C	G	739196	3	3	151	1	0	0	0	0	1	0	0	0	17312	826	29	1	1963	1	WDR24	16	739196	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		739196	89615557	676	25309										
CRAMP1L	57585	genome.wustl.edu	37	chr16	1718140	1718140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgctgtcacagggcgagcctGccacacacattagcgactcc	10	16	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:1718140G>A	ENST00000397412.3	+	18	3379	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.A472T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.A1091T|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.A1094T|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1094	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGGCGAGCCTGCCACACACAT	0.617																																																	0													65	67	66					16																	1718140		2168	4267	6435	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3280G>A	16.37:g.1718140G>A	ENSP00000380559:p.Ala1094Thr		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.A1094T	ENST00000397412.3	37	c.3280	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384335	0.42308	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.44	2.08	0.27032	.	0.269957	0.37809	N	0.001921	T	0.20170	0.0485	L	0.27053	0.805	0.28204	N	0.927218	P	0.42296	0.775	B	0.36666	0.23	T	0.08764	-1.0706	9	0.33141	T	0.24	-21.0815	7.6723	0.28465	0.1431:0.0:0.6412:0.2157	.	1094	Q96RY5	CRML_HUMAN	T	1094;1094;1091;472	.	ENSP00000262317:A472T	A	+	1	0	CRAMP1L	1658141	1.000000	0.71417	0.831000	0.32960	0.226000	0.24999	3.738000	0.55067	0.683000	0.31428	-0.142000	0.14014	GCC	CRAMP1L	-	NULL		0.617	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1718140	1	no_errors	ENST00000293925	ensembl	human	known	70_37	missense	SNP	0.560	A	A	1718140	G	A	1718140	3	1	151	1	0	0	0	0	1	0	0	0	3851	1319	46	4	3346	4	CRAMP1L	16	1718140	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	978944	1718140	88636613	677	25310										
ABCA3	21	genome.wustl.edu	37	chr16	2345606	2345606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtacctgtgcgtgctctctCtgggaaggatgaaagacagc	13	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:2345606C>T	ENST00000301732.5	-	18	3099	c.2399G>A	c.(2398-2400)aGa>aAa	p.R800K	ABCA3_ENST00000382381.3_Missense_Mutation_p.R742K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	800					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGTGCTCTCTCTGGGAAGGAT	0.627																																																	0													148	150	149					16																	2345606		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2399G>A	16.37:g.2345606C>T	ENSP00000301732:p.Arg800Lys		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R800K	ENST00000301732.5	37	c.2399	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	0.856	-0.736875	0.03111	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.79940	-1.32	5.65	4.56	0.56223	.	0.099206	0.64402	N	0.000002	T	0.44456	0.1294	N	0.00395	-1.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.52616	-0.8552	10	0.02654	T	1	.	10.0058	0.41957	0.0:0.0806:0.0:0.9194	.	800;804;800	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	K	800;804	ENSP00000301732:R800K	ENSP00000301732:R800K	R	-	2	0	ABCA3	2285607	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	2.496000	0.45346	1.164000	0.42652	-0.302000	0.09304	AGA	ABCA3	-	NULL		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	C	NM_001089		2345606	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2345606	C	T	2345606	3	4	151	1	0	0	0	0	1	0	0	0	33	913	32	1	2779	1	ABCA3	16	2345606	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	627466	2345606	88009147	678	25311										
CCNF	899	genome.wustl.edu	37	chr16	2487306	2487306	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcacgagagcctcagggcaGagtgccagctgcagagggtg	16	10	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:2487306G>C	ENST00000397066.4	+	5	611	c.523G>C	c.(523-525)Gag>Cag	p.E175Q		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	175					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCTCAGGGCAGAGTGCCAGCT	0.652																																																	0													32	30	31					16																	2487306		2198	4299	6497	SO:0001583	missense	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.523G>C	16.37:g.2487306G>C	ENSP00000380256:p.Glu175Gln		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.E175Q	ENST00000397066.4	37	c.523	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534354	0.85812	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.25749	1.78	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	L	0.57536	1.79	0.80722	D	1	P	0.40834	0.73	B	0.41894	0.369	T	0.02868	-1.1100	10	0.42905	T	0.14	-33.781	18.3739	0.90428	0.0:0.0:1.0:0.0	.	175	P41002	CCNF_HUMAN	Q	175;90	ENSP00000380256:E175Q	ENSP00000293968:E90Q	E	+	1	0	CCNF	2427307	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.652000	0.83633	2.689000	0.91719	0.655000	0.94253	GAG	CCNF	-	NULL		0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	G	NM_001761		2487306	1	no_errors	ENST00000397066	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2487306	G	C	2487306	3	2	151	1	0	0	0	0	1	0	0	0	2927	943	33	1	541	1	CCNF	16	2487306	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	141700	2487306	87867447	679	25312										
C16orf72	29035	genome.wustl.edu	37	chr16	9196861	9196861	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaagcgtggatacccatcaaCgaagttttgatattggaatt	9	6	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:9196861C>T	ENST00000327827.7	+	3	725	c.328C>T	c.(328-330)Cga>Tga	p.R110*	RP11-473I1.9_ENST00000574285.1_RNA|RP11-473I1.5_ENST00000565648.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	110										endometrium(4)|large_intestine(2)|lung(2)	8						TACCCATCAACGAAGTTTTGA	0.368																																																	0													89	90	90					16																	9196861		2197	4300	6497	SO:0001587	stop_gained	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.328C>T	16.37:g.9196861C>T	ENSP00000331720:p.Arg110*			Nonsense_Mutation	SNP	NULL	p.R110*	ENST00000327827.7	37	c.328	CCDS10538.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.469124	0.98825	.	.	ENSG00000182831	ENST00000327827	.	.	.	5.98	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7932	16.6202	0.84928	0.1312:0.8688:0.0:0.0	.	.	.	.	X	110	.	ENSP00000331720:R110X	R	+	1	2	C16orf72	9104362	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.190000	0.50973	1.521000	0.48983	0.591000	0.81541	CGA	C16orf72	-	NULL		0.368	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf72	HGNC	protein_coding	OTTHUMT00000440760.2	C	NM_014117		9196861	1	no_errors	ENST00000327827	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	9196861	C	T	9196861	4	4	151	1	0	0	0	0	0	1	0	0	1835	528	19	2	338	2	C16orf72	16	9196861	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6709555	9196861	81157892	680	25313										
ATF7IP2	80063	genome.wustl.edu	37	chr16	10575839	10575839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agacccaatggcattgccctGacttggaatataaccaaaat	7	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:10575839G>A	ENST00000396560.2	+	12	2009	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Silent_p.L594L|ATF7IP2_ENST00000543967.1_Silent_p.L138L|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	594	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GCATTGCCCTGACTTGGAATA	0.443																																																	0													107	105	106					16																	10575839		2197	4300	6497	SO:0001819	synonymous_variant	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1782G>A	16.37:g.10575839G>A			B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	superfamily_Fibronectin_type3	p.L594	ENST00000396560.2	37	c.1782	CCDS10540.1	16																																																																																			ATF7IP2	-	superfamily_Fibronectin_type3		0.443	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	G	NM_024997		10575839	1	no_errors	ENST00000356427	ensembl	human	known	70_37	silent	SNP	0.999	A	A	10575839	G	A	10575839	2	1	151	1	0	0	0	0	0	0	0	1	1089	1277	45	1		1	ATF7IP2	16	10575839	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1378978	10575839	79778914	681	25314										
ABCC6	368	genome.wustl.edu	37	chr16	16291890	16291890	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggcatacctgccagagataGacgaagcagaccacgatcca	10	12	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:16291890G>C	ENST00000205557.7	-	10	1355	c.1326C>G	c.(1324-1326)gtC>gtG	p.V442V	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	442	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	GCCAGAGATAGACGAAGCAGA	0.622																																																	0													54	43	47					16																	16291890		2197	4300	6497	SO:0001819	synonymous_variant	368			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.1326C>G	16.37:g.16291890G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.V442	ENST00000205557.7	37	c.1326	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16291890	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	1.000	C	C	16291890	G	C	16291890	2	2	151	1	0	0	0	0	0	0	0	1	57	929	33	1		1	ABCC6	16	16291890	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5716051	16291890	74062863	682	25315										
ABCC6	368	genome.wustl.edu	37	chr16	16295943	16295943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgttctgctgctcaaacagcGtttgcaggcaggctgagagg	14	9	2	1	rs387906353|rs74315156|rs72653759		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:16295943G>A	ENST00000205557.7	-	9	1120	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	364	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		Missing (in PXE). {ECO:0000269|PubMed:15086542}.|T -> R (in PXE; autosomal recessive). {ECO:0000269|PubMed:11702217, ECO:0000269|PubMed:15459974, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		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)	CTCAAACAGCGTTTGCAGGCA	0.577																																																	0			GRCh37	CM012884|CM080011	ABCC6	M	rs72653759						92	76	82					16																	16295943		2197	4300	6497	SO:0001583	missense	368			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.1091C>T	16.37:g.16295943G>A	ENSP00000205557:p.Thr364Met		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.T364M	ENST00000205557.7	37	c.1091	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	.	19.58	3.854921	0.71719	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91686	-2.89;-2.89	4.33	3.36	0.38483	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.284702	0.24449	U	0.038424	D	0.95360	0.8494	M	0.87038	2.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67103	0.927;0.949	D	0.95090	0.8221	10	0.87932	D	0	.	8.8082	0.34952	0.1085:0.0:0.8915:0.0	.	376;364	F5GWQ0;O95255	.;MRP6_HUMAN	M	364;364;376	ENSP00000205557:T364M;ENSP00000405002:T364M	ENSP00000205557:T364M	T	-	2	0	ABCC6	16203444	1.000000	0.71417	0.897000	0.35233	0.966000	0.64601	6.781000	0.75068	1.961000	0.56991	0.485000	0.47835	ACG	ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16295943	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	missense	SNP	0.977	A	A	16295943	G	A	16295943	3	1	151	1	0	0	0	0	1	0	0	0	57	1145	40	2	3512	2	ABCC6	16	16295943	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4053	16295943	74058810	683	25316										
SMG1	23049	genome.wustl.edu	37	chr16	18826931	18826931	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaactgcctaacactgttctCatagggaacatcttcaccat	5	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:18826931C>T	ENST00000446231.2	-	59	10757	c.10345G>A	c.(10345-10347)Gag>Aag	p.E3449K	SMG1_ENST00000389467.3_Missense_Mutation_p.E3450K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3449					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACACTGTTCTCATAGGGAACA	0.358																																																	0													91	84	86					16																	18826931		1880	4112	5992	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10345G>A	16.37:g.18826931C>T	ENSP00000402515:p.Glu3449Lys		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3450K	ENST00000446231.2	37	c.10348	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663546	0.88251	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01106	5.33;5.33	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000003	T	0.01835	0.0058	L	0.36672	1.1	0.53688	D	0.99997	P	0.40970	0.734	B	0.37731	0.257	T	0.67948	-0.5538	10	0.51188	T	0.08	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	3449	Q96Q15	SMG1_HUMAN	K	3449;3450	ENSP00000402515:E3449K;ENSP00000374118:E3450K	ENSP00000374118:E3450K	E	-	1	0	SMG1	18734432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	GAG	SMG1	-	NULL		0.358	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18826931	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18826931	C	T	18826931	3	4	151	1	0	0	0	0	1	0	0	0	14825	835	29	1	660	1	SMG1	16	18826931	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2530988	18826931	71527822	684	25317										
SMG1	23049	genome.wustl.edu	37	chr16	18860627	18860627	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaatcttgagccacacggcaGagaaggttacaaatactttg	10	8	1	2	rs375991428		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:18860627G>C	ENST00000446231.2	-	36	5947	c.5535C>G	c.(5533-5535)ctC>ctG	p.L1845L	SMG1_ENST00000389467.3_Silent_p.L1845L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1845	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCACACGGCAGAGAAGGTTAC	0.438																																																	0								G		1,3779		0,1,1889	101	95	97		5535	-5	0.9	16		97	0,8214		0,0,4107	no	coding-synonymous	SMG1	NM_015092.4		0,1,5996	CC,CG,GG		0.0,0.0265,0.0083		1845/3662	18860627	1,11993	1890	4107	5997	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5535C>G	16.37:g.18860627G>C			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1845	ENST00000446231.2	37	c.5535	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.438	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18860627	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	0.965	C	C	18860627	G	C	18860627	2	2	151	1	0	0	0	0	0	0	0	1	14825	929	33	1		1	SMG1	16	18860627	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	33696	18860627	71494126	685	25318										
SMG1	23049	genome.wustl.edu	37	chr16	18881956	18881956	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggacaacatctaaaggaattGatttcaacagttttccaaat	6	7	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:18881956G>C	ENST00000446231.2	-	18	2880	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S823*|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	823	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAAAGGAATTGATTTCAACAG	0.383																																																	0													21	19	20					16																	18881956		1837	4087	5924	SO:0001587	stop_gained	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2468C>G	16.37:g.18881956G>C	ENSP00000402515:p.Ser823*		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S823*	ENST00000446231.2	37	c.2468	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.500686	0.98322	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.79	5.79	0.91817	.	0.000000	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.0341	0.97551	0.0:0.0:1.0:0.0	.	.	.	.	X	823	.	ENSP00000374118:S823X	S	-	2	0	SMG1	18789457	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.996000	0.76263	2.753000	0.94483	0.555000	0.69702	TCA	SMG1	-	superfamily_ARM-type_fold		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18881956	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	18881956	G	C	18881956	4	2	151	1	0	0	0	0	0	1	0	0	14825	1294	45	1	8701	1	SMG1	16	18881956	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	21329	18881956	71472797	686	25319										
ACSM2A	123876	genome.wustl.edu	37	chr16	20492226	20492226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cggctgtgatcagcagcccaGaccccgtccgaggagaggtg	15	13	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:20492226G>C	ENST00000573854.1	+	12	1606	c.1492G>C	c.(1492-1494)Gac>Cac	p.D498H	ACSM2A_ENST00000417235.2_Missense_Mutation_p.D419H|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D270H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D498H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D498H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D498H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	498					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCAGCCCAGACCCCGTCCG	0.557																																																	0													78	72	74					16																	20492226		2202	4297	6499	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1492G>C	16.37:g.20492226G>C	ENSP00000459451:p.Asp498His		B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D498H	ENST00000573854.1	37	c.1492	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257295	0.39896	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	3.26	3.26	0.37387	.	0.285645	0.24303	N	0.039711	T	0.74884	0.3775	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.972	T	0.78790	-0.2066	10	0.87932	D	0	-9.5791	14.6156	0.68547	0.0:0.0:1.0:0.0	.	419;498	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	H	419;498;270;498	ENSP00000392169:D419H;ENSP00000219054:D498H;ENSP00000445082:D270H;ENSP00000379411:D498H	ENSP00000219054:D498H	D	+	1	0	ACSM2A	20399727	1.000000	0.71417	0.993000	0.49108	0.159000	0.22180	7.680000	0.84062	1.560000	0.49568	0.289000	0.19496	GAC	ACSM2A	-	NULL		0.557	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	G	NM_001010845		20492226	1	no_errors	ENST00000219054	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20492226	G	C	20492226	3	2	151	1	0	0	0	0	1	0	0	0	183	942	33	1	1534	1	ACSM2A	16	20492226	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1610270	20492226	69862527	687	25320										
DNAH3	55567	genome.wustl.edu	37	chr16	21063145	21063145	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatccattggaaatcattcaGatcggagaccctgtcctcag	9	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:21063145G>A	ENST00000261383.3	-	29	4083	c.4084C>T	c.(4084-4086)Ctg>Ttg	p.L1362L	DNAH3_ENST00000415178.1_Silent_p.L1362L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1362	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATCATTCAGATCGGAGACC	0.517																																																	0													136	129	131					16																	21063145		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4084C>T	16.37:g.21063145G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.L1362	ENST00000261383.3	37	c.4084	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21063145	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.983	A	A	21063145	G	A	21063145	2	1	151	1	0	0	0	0	0	0	0	1	4613	933	33	1		1	DNAH3	16	21063145	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	570919	21063145	69291608	688	25321										
OTOA	146183	genome.wustl.edu	37	chr16	21721247	21721247	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacattgccatggagaaccaGaccctcaatgagaccctggg	11	12	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:21721247G>A	ENST00000286149.4	+	12	1186	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	OTOA_ENST00000388956.4_Silent_p.Q302Q|OTOA_ENST00000388957.3_Silent_p.Q57Q|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388958.3_Silent_p.Q381Q			Q7RTW8	OTOAN_HUMAN	otoancorin	395					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGAGAACCAGACCCTCAATG	0.557																																																	0													80	80	80					16																	21721247		2199	4300	6499	SO:0001819	synonymous_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1185G>A	16.37:g.21721247G>A			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	NULL	p.Q395	ENST00000286149.4	37	c.1185		16																																																																																			OTOA	-	NULL		0.557	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	G			21721247	1	no_errors	ENST00000286149	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21721247	G	A	21721247	2	1	151	1	0	0	0	0	0	0	0	1	11326	933	33	1		1	OTOA	16	21721247	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	658102	21721247	68633506	689	25322										
ATXN2L	11273	genome.wustl.edu	37	chr16	28843855	28843855	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggaacctgggagaactctgGagccccaggagctggctcgg	16	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28843855G>C	ENST00000336783.4	+	12	1722	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	ATXN2L_ENST00000564304.1_Missense_Mutation_p.E525Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.E519Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.E519Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.E519Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E519Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E519Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	519					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGAACTCTGGAGCCCCAGGA	0.463																																																	0													91	110	104					16																	28843855		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1555G>C	16.37:g.28843855G>C	ENSP00000338718:p.Glu519Gln		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E519Q	ENST00000336783.4	37	c.1555	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	23.6	4.432263	0.83776	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50813	0.77;0.73;0.76;0.77;0.76	5.46	5.46	0.80206	.	0.166220	0.42420	D	0.000708	T	0.57242	0.2040	L	0.40543	1.245	0.32728	N	0.509356	D;D;D;D;D;D;D	0.61080	0.989;0.981;0.981;0.989;0.989;0.981;0.978	D;D;D;D;D;D;P	0.70487	0.969;0.932;0.932;0.969;0.969;0.932;0.719	T	0.59445	-0.7453	10	0.21540	T	0.41	-9.1712	14.7969	0.69884	0.0:0.0:1.0:0.0	.	519;519;519;519;519;519;519	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	Q	519	ENSP00000341459:E519Q;ENSP00000378917:E519Q;ENSP00000338718:E519Q;ENSP00000372133:E519Q;ENSP00000315650:E519Q	ENSP00000315650:E519Q	E	+	1	0	ATXN2L	28751356	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.850000	0.62889	2.567000	0.86603	0.491000	0.48974	GAG	ATXN2L	-	NULL		0.463	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245		28843855	1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28843855	G	C	28843855	3	2	151	1	0	0	0	0	1	0	0	0	1213	1175	41	1	1601	1	ATXN2L	16	28843855	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7122608	28843855	61510898	690	25323										
ATXN2L	11273	genome.wustl.edu	37	chr16	28844464	28844464	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcccaaaggaaaggagaaaGaggttgatggtctgttgact	14	5	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28844464G>C	ENST00000336783.4	+	14	1911	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	ATXN2L_ENST00000564304.1_Missense_Mutation_p.E588Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.E582Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.E582Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.E582Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E582Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E582Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	582					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AAAGGAGAAAGAGGTTGATGG	0.542																																																	0													115	119	117					16																	28844464		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1744G>C	16.37:g.28844464G>C	ENSP00000338718:p.Glu582Gln		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E582Q	ENST00000336783.4	37	c.1744	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	7.005	0.555652	0.13436	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47528	0.85;0.84;0.85;0.85;0.85	5.8	3.86	0.44501	.	0.328845	0.29126	N	0.013077	T	0.31358	0.0794	L	0.33485	1.01	0.27489	N	0.952348	B;B;B;B;B;B;B;B	0.15141	0.007;0.012;0.004;0.004;0.007;0.007;0.004;0.007	B;B;B;B;B;B;B;B	0.14023	0.01;0.01;0.004;0.004;0.01;0.01;0.004;0.01	T	0.19516	-1.0303	10	0.15066	T	0.55	-16.4187	7.3502	0.26686	0.1498:0.1382:0.712:0.0	.	582;582;582;582;582;582;582;582	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	Q	582	ENSP00000341459:E582Q;ENSP00000378917:E582Q;ENSP00000338718:E582Q;ENSP00000372133:E582Q;ENSP00000315650:E582Q	ENSP00000315650:E582Q	E	+	1	0	ATXN2L	28751965	0.998000	0.40836	0.792000	0.32020	0.014000	0.08584	2.772000	0.47678	0.821000	0.34540	-0.140000	0.14226	GAG	ATXN2L	-	NULL		0.542	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245		28844464	1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	0.965	C	C	28844464	G	C	28844464	3	2	151	1	0	0	0	0	1	0	0	0	1213	943	33	1	1798	1	ATXN2L	16	28844464	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	609	28844464	61510289	691	25324										
ATXN2L	11273	genome.wustl.edu	37	chr16	28844674	28844674	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagatgagggccctgttgctGagtgagtggagcggggtggg	21	5	0	4	rs373472808		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28844674G>A	ENST00000336783.4	+	14	2121	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ATXN2L_ENST00000564304.1_Splice_Site_p.E658K|ATXN2L_ENST00000340394.8_Splice_Site_p.E652K|ATXN2L_ENST00000395547.2_Splice_Site_p.E652K|ATXN2L_ENST00000382686.4_Splice_Site_p.E652K|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Splice_Site_p.E652K|ATXN2L_ENST00000325215.6_Splice_Site_p.E652K|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	652					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.E652Q(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTGTTGCTGAGTGAGTGGA	0.577																																																	2	Substitution - Missense(2)	lung(2)											45	45	45					16																	28844674		2197	4300	6497	SO:0001630	splice_region_variant	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1955+1G>A	16.37:g.28844674G>A			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E652K	ENST00000336783.4	37	c.1954	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	21.5	4.163438	0.78226	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.54071	0.6;0.62;0.63;0.6;0.59	5.84	5.84	0.93424	.	0.071450	0.56097	D	0.000028	T	0.39410	0.1077	N	0.24115	0.695	0.51233	D	0.999914	B;B;B;B;B;B;B	0.34290	0.447;0.319;0.319;0.447;0.447;0.319;0.447	B;B;B;B;B;B;B	0.30572	0.075;0.034;0.055;0.075;0.075;0.034;0.117	T	0.18524	-1.0334	10	0.16896	T	0.51	-9.8797	18.9149	0.92501	0.0:0.0:1.0:0.0	.	652;652;652;652;652;652;652	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	K	652	ENSP00000341459:E652K;ENSP00000378917:E652K;ENSP00000338718:E652K;ENSP00000372133:E652K;ENSP00000315650:E652K	ENSP00000315650:E652K	E	+	1	0	ATXN2L	28752175	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.143000	0.77348	2.769000	0.95229	0.563000	0.77884	GAA	ATXN2L	-	NULL		0.577	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245	Missense_Mutation	28844674	1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28844674	G	A	28844674	5	1	151	1	0	0	0	0	0	0	1	0	1213	1304	45	1	2008	1	ATXN2L	16	28844674	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	210	28844674	61510079	692	25325										
ZNF785	146540	genome.wustl.edu	37	chr16	30594342	30594342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgagcacgcgtaaggcttctCcccggtgtgagcccgcctgt	13	14	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30594342C>T	ENST00000395216.2	-	3	916	c.757G>A	c.(757-759)Gag>Aag	p.E253K	RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E238K	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TAAGGCTTCTCCCCGGTGTGA	0.657																																																	0													44	39	41					16																	30594342		2197	4300	6497	SO:0001583	missense	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.757G>A	16.37:g.30594342C>T	ENSP00000378642:p.Glu253Lys		O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E253K	ENST00000395216.2	37	c.757	CCDS10685.1	16	.	.	.	.	.	.	.	.	.	.	c	22.9	4.350973	0.82132	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.24350	1.86;1.86	3.48	2.49	0.30216	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36991	0.0987	L	0.61036	1.89	0.27295	N	0.957729	P;P;P	0.48294	0.687;0.908;0.637	B;P;B	0.53549	0.281;0.729;0.185	T	0.12218	-1.0556	9	0.59425	D	0.04	.	8.3926	0.32537	0.0:0.8721:0.0:0.1279	.	218;253;238	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	K	238;218;253	ENSP00000420340:E238K;ENSP00000378642:E253K	ENSP00000378642:E253K	E	-	1	0	ZNF785	30501843	0.972000	0.33761	0.773000	0.31616	0.540000	0.34992	2.940000	0.49003	1.018000	0.39521	0.644000	0.83932	GAG	ZNF785	-	pfscan_Znf_C2H2		0.657	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	C	NM_152458		30594342	-1	no_errors	ENST00000395216	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30594342	C	T	30594342	3	4	151	1	0	0	0	0	1	0	0	0	18187	864	30	1	464	1	ZNF785	16	30594342	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1749668	30594342	59760411	693	25326										
ZNF785	146540	genome.wustl.edu	37	chr16	30596840	30596840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagtacacggccacgtccgcGaagctcacggcgcccggcct	12	17	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30596840G>T	ENST00000395216.2	-	1	252	c.93C>A	c.(91-93)ttC>ttA	p.F31L	RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.F31L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CCACGTCCGCGAAGCTCACGG	0.741																																																	0													13	14	14					16																	30596840		2185	4290	6475	SO:0001583	missense	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.93C>A	16.37:g.30596840G>T	ENSP00000378642:p.Phe31Leu		O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F31L	ENST00000395216.2	37	c.93	CCDS10685.1	16	.	.	.	.	.	.	.	.	.	.	g	15.17	2.754481	0.49362	.	.	ENSG00000197162	ENST00000470110;ENST00000395216	T;T	0.07114	3.22;3.22	3.97	-0.327	0.12694	Krueppel-associated box (4);	.	.	.	.	T	0.23572	0.0570	M	0.83384	2.64	0.09310	N	1	D;D	0.71674	0.998;0.997	D;P	0.64321	0.924;0.876	T	0.05616	-1.0874	9	0.56958	D	0.05	.	6.6071	0.22731	0.4329:0.0:0.5671:0.0	.	31;31	A8K8V0;A8K8V0-2	ZN785_HUMAN;.	L	31	ENSP00000420340:F31L;ENSP00000378642:F31L	ENSP00000378642:F31L	F	-	3	2	ZNF785	30504341	0.001000	0.12720	0.005000	0.12908	0.087000	0.18053	-0.342000	0.07801	-0.197000	0.10350	-0.225000	0.12378	TTC	ZNF785	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.741	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	G	NM_152458		30596840	-1	no_errors	ENST00000395216	ensembl	human	known	70_37	missense	SNP	0.323	T	T	30596840	G	T	30596840	3	4	151	1	0	0	0	0	1	0	0	0	18187	1049	37	3	1136	3	ZNF785	16	30596840	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2498	30596840	59757913	694	25327										
SRCAP	10847	genome.wustl.edu	37	chr16	30748767	30748767	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttctgccccagtacccatttCagccccaaatccaataacca	3	17	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30748767C>A	ENST00000262518.4	+	34	7791	c.7406C>A	c.(7405-7407)tCa>tAa	p.S2469*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.S2407*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.S2311*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2469	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gtacccatttcagccccaaat	0.567																																																	0													164	105	125					16																	30748767		2189	4289	6478	SO:0001587	stop_gained	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7406C>A	16.37:g.30748767C>A	ENSP00000262518:p.Ser2469*		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S2469*	ENST00000262518.4	37	c.7406	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	42	9.803964	0.99268	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	3.29	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1874	6.5537	0.22448	0.0:0.8667:0.0:0.1333	.	.	.	.	X	2469;2407;2311	.	ENSP00000262518:S2469X	S	+	2	0	SRCAP	30656268	0.996000	0.38824	1.000000	0.80357	0.422000	0.31414	2.200000	0.42724	0.968000	0.38212	0.313000	0.20887	TCA	SRCAP	-	NULL		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30748767	1	no_errors	ENST00000262518	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	30748767	C	A	30748767	4	1	151	1	0	0	0	0	0	1	0	0	15165	838	29	3	7532	3	SRCAP	16	30748767	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	151927	30748767	59605986	695	25328										
SRCAP	10847	genome.wustl.edu	37	chr16	30748823	30748823	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcttgccttctcctccccctCcttcacagattcctccttgt	3	19	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30748823C>G	ENST00000262518.4	+	34	7847	c.7462C>G	c.(7462-7464)Cct>Gct	p.P2488A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2426A|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2330A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2488	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			tcctccccctccttcacagat	0.557																																																	0													237	163	188					16																	30748823		2195	4300	6495	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7462C>G	16.37:g.30748823C>G	ENSP00000262518:p.Pro2488Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P2488A	ENST00000262518.4	37	c.7462	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	3.028	-0.200360	0.06219	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90504	-2.66;-2.68;-2.68	3.54	3.54	0.40534	.	0.705996	0.11033	N	0.607038	T	0.78033	0.4220	N	0.08118	0	0.09310	N	1	B;B	0.21606	0.058;0.034	B;B	0.18871	0.023;0.01	T	0.60845	-0.7182	10	0.07175	T	0.84	0.518	10.8939	0.47010	0.0:1.0:0.0:0.0	.	2426;2488	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	A	2488;2426;2330	ENSP00000262518:P2488A;ENSP00000378499:P2426A;ENSP00000343042:P2330A	ENSP00000262518:P2488A	P	+	1	0	SRCAP	30656324	0.000000	0.05858	0.188000	0.23233	0.354000	0.29330	0.049000	0.14099	2.277000	0.76020	0.313000	0.20887	CCT	SRCAP	-	NULL		0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30748823	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.297	G	G	30748823	C	G	30748823	3	3	151	1	0	0	0	0	1	0	0	0	15165	855	30	1	7588	1	SRCAP	16	30748823	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	56	30748823	59605930	696	25329										
BCKDK	10295	genome.wustl.edu	37	chr16	31121765	31121765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttggacaagacgctgacttCgaggcttggaatccgcatgt	12	10	0	2	rs553956491		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:31121765C>T	ENST00000394951.1	+	8	1210	c.587C>T	c.(586-588)tCg>tTg	p.S196L	BCKDK_ENST00000287507.3_Missense_Mutation_p.S196L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Missense_Mutation_p.S196L|BCKDK_ENST00000394950.3_Missense_Mutation_p.S196L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	196	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						ACGCTGACTTCGAGGCTTGGA	0.587													C|||	1	0.000199681	0	0	5008	,	,		19040	0.001		0	False		,,,				2504	0																0													72	74	73					16																	31121765		2197	4300	6497	SO:0001583	missense	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.587C>T	16.37:g.31121765C>T	ENSP00000378405:p.Ser196Leu		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C	p.S196L	ENST00000394951.1	37	c.587	CCDS10705.1	16	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939677	0.92526	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.37	5.37	0.77165	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.057756	0.64402	D	0.000001	T	0.70176	0.3194	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.79112	-0.1937	10	0.87932	D	0	-20.8265	16.393	0.83546	0.0:1.0:0.0:0.0	.	196;196	Q96G95;O14874	.;BCKD_HUMAN	L	196	ENSP00000378405:S196L;ENSP00000219794:S196L;ENSP00000378404:S196L;ENSP00000287507:S196L	ENSP00000219794:S196L	S	+	2	0	BCKDK	31029266	1.000000	0.71417	0.191000	0.23289	0.990000	0.78478	5.196000	0.65136	2.676000	0.91093	0.655000	0.94253	TCG	BCKDK	-	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N		0.587	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCKDK	HGNC	protein_coding	OTTHUMT00000108514.1	C	NM_005881		31121765	1	no_errors	ENST00000219794	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31121765	C	T	31121765	3	4	151	1	0	0	0	0	1	0	0	0	1362	893	31	1	609	1	BCKDK	16	31121765	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	372942	31121765	59232988	697	25330										
ITGAD	3681	genome.wustl.edu	37	chr16	31424553	31424553	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctcaccatccagaaaagctCactggaccagctaggtgtgt	9	12	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:31424553C>G	ENST00000389202.2	+	16	2031	c.1982C>G	c.(1981-1983)tCa>tGa	p.S661*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	661					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGAAAAGCTCACTGGACCAG	0.607																																																	0													88	82	84					16																	31424553		2197	4300	6497	SO:0001587	stop_gained	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1982C>G	16.37:g.31424553C>G	ENSP00000373854:p.Ser661*		Q15575|Q15576	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S661*	ENST00000389202.2	37	c.1982	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429761	0.83776	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	.	.	.	5.24	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.8945	0.41309	0.0:0.9049:0.0:0.0951	.	.	.	.	X	677;661	.	ENSP00000373854:S661X	S	+	2	0	ITGAD	31332054	0.009000	0.17119	0.035000	0.18076	0.190000	0.23558	2.527000	0.45615	1.215000	0.43411	0.604000	0.83254	TCA	ITGAD	-	pfam_Integrin_alpha-2		0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	C	NM_005353		31424553	1	no_errors	ENST00000389202	ensembl	human	known	70_37	nonsense	SNP	0.006	G	G	31424553	C	G	31424553	4	3	151	1	0	0	0	0	0	1	0	0	7904	838	29	1	2044	1	ITGAD	16	31424553	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	302788	31424553	58930200	698	25331										
VPS35	55737	genome.wustl.edu	37	chr16	46706273	46706273	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcgtagtcaaagtactcaaaGagtgggtgaaaatgttttaa	10	4	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:46706273G>A	ENST00000299138.7	-	11	1330	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	424					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTACTCAAAGAGTGGGTGAA	0.353																																																	0													78	81	80					16																	46706273		2203	4300	6503	SO:0001819	synonymous_variant	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1272C>T	16.37:g.46706273G>A			Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.L424	ENST00000299138.7	37	c.1272	CCDS10721.1	16																																																																																			VPS35	-	pfam_VPS35,superfamily_ARM-type_fold		0.353	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3	G			46706273	-1	no_errors	ENST00000299138	ensembl	human	known	70_37	silent	SNP	0.998	A	A	46706273	G	A	46706273	2	1	151	1	0	0	0	0	0	0	0	1	17234	929	33	1		1	VPS35	16	46706273	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	15281720	46706273	43648480	699	25332										
SNX20	124460	genome.wustl.edu	37	chr16	50707416	50707416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcctctcctgcagagtcacGaagtccttgcccagcgcgta	10	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:50707416G>A	ENST00000330943.4	-	4	1023	c.852C>T	c.(850-852)ttC>ttT	p.F284F	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	284					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCAGAGTCACGAAGTCCTTGC	0.672																																																	0													37	39	38					16																	50707416		2196	4297	6493	SO:0001819	synonymous_variant	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.852C>T	16.37:g.50707416G>A			A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F284	ENST00000330943.4	37	c.852	CCDS10745.1	16																																																																																			SNX20	-	NULL		0.672	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	G	NM_153337		50707416	-1	no_errors	ENST00000330943	ensembl	human	known	70_37	silent	SNP	0.979	A	A	50707416	G	A	50707416	2	1	151	1	0	0	0	0	0	0	0	1	14922	1049	37	1		1	SNX20	16	50707416	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4001143	50707416	39647337	700	25333										
NOD2	64127	genome.wustl.edu	37	chr16	50733855	50733855	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggttgccgatcttcacacCgtcccagagggtgaggcact	12	13	2	2	rs144368009		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:50733855C>G	ENST00000300589.2	+	2	635	c.530C>G	c.(529-531)cCg>cGg	p.P177R	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	177	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542																																																	0													67	56	60					16																	50733855		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.530C>G	16.37:g.50733855C>G	ENSP00000300589:p.Pro177Arg		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.P177R	ENST00000300589.2	37	c.530	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311967	0.40895	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.17691	2.26	5.29	5.29	0.74685	DEATH-like (2);Caspase Recruitment (2);	0.632714	0.14057	N	0.344312	T	0.13586	0.0329	L	0.27053	0.805	0.23126	N	0.998253	P	0.37038	0.579	B	0.32583	0.148	T	0.15292	-1.0442	10	0.52906	T	0.07	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	177	Q9HC29	NOD2_HUMAN	R	150;177	ENSP00000300589:P177R	ENSP00000300589:P177R	P	+	2	0	NOD2	49291356	0.717000	0.27966	0.111000	0.21465	0.299000	0.27559	4.021000	0.57196	2.471000	0.83476	0.591000	0.81541	CCG	NOD2	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD		0.542	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	C	NM_022162		50733855	1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.295	G	G	50733855	C	G	50733855	3	3	151	1	0	0	0	0	1	0	0	0	10541	652	23	2	536	2	NOD2	16	50733855	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	26439	50733855	39620898	701	25334										
MMP2	4313	genome.wustl.edu	37	chr16	55527078	55527078	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgttctccccaggggcctctCctgacattgaccttggcacc	9	16	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:55527078C>G	ENST00000219070.4	+	9	1854	c.1345C>G	c.(1345-1347)Cct>Gct	p.P449A	MMP2_ENST00000570308.1_Missense_Mutation_p.P373A|MMP2_ENST00000437642.2_Missense_Mutation_p.P399A|MMP2_ENST00000543485.1_Missense_Mutation_p.P373A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	449	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGGGGCCTCTCCTGACATTGA	0.602																																																	0													66	62	64					16																	55527078		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1345C>G	16.37:g.55527078C>G	ENSP00000219070:p.Pro449Ala		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.P449A	ENST00000219070.4	37	c.1345	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505359	0.26949	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.19669	2.25;2.13;2.17	5.55	3.44	0.39384	Metallopeptidase, catalytic domain (1);	0.701022	0.13581	N	0.377325	T	0.21718	0.0523	L	0.50919	1.6	0.32591	N	0.527155	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.14090	-1.0485	10	0.40728	T	0.16	.	13.2458	0.60022	0.3809:0.6191:0.0:0.0	.	399;449	E9PE45;P08253	.;MMP2_HUMAN	A	449;373;399	ENSP00000219070:P449A;ENSP00000444143:P373A;ENSP00000394237:P399A	ENSP00000219070:P449A	P	+	1	0	MMP2	54084579	0.058000	0.20735	0.476000	0.27291	0.668000	0.39293	0.634000	0.24614	1.331000	0.45412	0.563000	0.77884	CCT	MMP2	-	NULL		0.602	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	C			55527078	1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.367	G	G	55527078	C	G	55527078	3	3	151	1	0	0	0	0	1	0	0	0	9681	855	30	1	1386	1	MMP2	16	55527078	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4793223	55527078	34827675	702	25335										
SLC6A2	6530	genome.wustl.edu	37	chr16	55734065	55734065	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctctagttcgtggttgtggtCagcatcatcaacttcaagcc	9	11	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:55734065C>G	ENST00000379906.2	+	12	1860	c.1605C>G	c.(1603-1605)gtC>gtG	p.V535V	SLC6A2_ENST00000219833.8_Silent_p.V535V|SLC6A2_ENST00000567238.1_Silent_p.V430V|SLC6A2_ENST00000561820.1_Silent_p.V535V|SLC6A2_ENST00000568943.1_Silent_p.V535V|SLC6A2_ENST00000566163.1_Silent_p.V490V|SLC6A2_ENST00000414754.3_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	535					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGTTGTGGTCAGCATCATCA	0.547																																																	0													124	100	108					16																	55734065		2198	4300	6498	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1605C>G	16.37:g.55734065C>G			B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.V535	ENST00000379906.2	37	c.1605	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.547	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	C			55734065	1	no_errors	ENST00000219833	ensembl	human	known	70_37	silent	SNP	1.000	G	G	55734065	C	G	55734065	2	3	151	1	0	0	0	0	0	0	0	1	14713	813	29	1		1	SLC6A2	16	55734065	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	206987	55734065	34620688	703	25336										
GPR97	222487	genome.wustl.edu	37	chr16	57712222	57712222	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacattggtccagggactctCttcaaggtgaggactcaggg	14	9	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:57712222C>T	ENST00000333493.4	+	4	647	c.486C>T	c.(484-486)ctC>ctT	p.L162L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L42L|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	162					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGGACTCTCTTCAAGGTGA	0.572																																																	0													100	89	93					16																	57712222		2198	4300	6498	SO:0001819	synonymous_variant	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.486C>T	16.37:g.57712222C>T			Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L162	ENST00000333493.4	37	c.486	CCDS10786.1	16																																																																																			GPR97	-	NULL		0.572	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	C	NM_170776		57712222	1	no_errors	ENST00000333493	ensembl	human	known	70_37	silent	SNP	0.584	T	T	57712222	C	T	57712222	2	4	151	1	0	0	0	0	0	0	0	1	6740	900	32	1		1	GPR97	16	57712222	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1978157	57712222	32642531	704	25337										
CMTM2	146225	genome.wustl.edu	37	chr16	66620961	66620961	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agccgtggtctttgctgtgaGaagtcggcgatccatgaatc	13	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:66620961G>C	ENST00000268595.2	+	3	657	c.506G>C	c.(505-507)aGa>aCa	p.R169T	CMTM2_ENST00000379486.2_Missense_Mutation_p.R116T	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	169	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTTGCTGTGAGAAGTCGGCGA	0.517																																																	0													259	195	217					16																	66620961		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.506G>C	16.37:g.66620961G>C	ENSP00000268595:p.Arg169Thr		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	NULL	p.R169T	ENST00000268595.2	37	c.506	CCDS10814.1	16	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757261	0.49468	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.47528	0.84;1.55	4.05	-8.1	0.01086	Marvel (1);	1.278280	0.05365	N	0.534425	T	0.28333	0.0700	L	0.43152	1.355	0.09310	N	1	B;B	0.24823	0.112;0.112	B;B	0.20184	0.028;0.028	T	0.15954	-1.0419	10	0.28530	T	0.3	-0.2633	0.2342	0.00184	0.2643:0.2418:0.2542:0.2397	.	116;169	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	T	116;169	ENSP00000368800:R116T;ENSP00000268595:R169T	ENSP00000268595:R169T	R	+	2	0	CMTM2	65178462	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.863000	0.00725	-1.583000	0.01638	-0.314000	0.08810	AGA	CMTM2	-	NULL		0.517	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	G			66620961	1	no_errors	ENST00000268595	ensembl	human	known	70_37	missense	SNP	0.000	C	C	66620961	G	C	66620961	3	2	151	1	0	0	0	0	1	0	0	0	3588	942	33	1	516	1	CMTM2	16	66620961	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8908739	66620961	23733792	705	25338										
DDX28	55794	genome.wustl.edu	37	chr16	68057070	68057070	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccaggagcaaccgagtcacGagggaaaagagccgcaccgg	15	12	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:68057070G>C	ENST00000332395.5	-	1	700	c.36C>G	c.(34-36)ctC>ctG	p.L12L	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'UTR|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	12						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		ACCGAGTCACGAGGGAAAAGA	0.677																																																	0													17	18	17					16																	68057070		2135	4170	6305	SO:0001819	synonymous_variant	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.36C>G	16.37:g.68057070G>C				Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L12	ENST00000332395.5	37	c.36	CCDS10858.1	16																																																																																			DDX28	-	NULL		0.677	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	G	NM_018380		68057070	-1	no_errors	ENST00000332395	ensembl	human	known	70_37	silent	SNP	0.000	C	C	68057070	G	C	68057070	2	2	151	1	0	0	0	0	0	0	0	1	4360	1045	37	1		1	DDX28	16	68057070	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1436109	68057070	22297683	706	25339										
CDH1	999	genome.wustl.edu	37	chr16	68867208	68867208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttagaatctgaaagcggctGatactgaccccacagccccg	9	13	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:68867208G>A	ENST00000261769.5	+	16	2646	c.2455G>A	c.(2455-2457)Gat>Aat	p.D819N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D758N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	819	Required for binding alpha, beta and gamma catenins.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAAAGCGGCTGATACTGACCC	0.488			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	0													80	81	80					16																	68867208		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2455G>A	16.37:g.68867208G>A	ENSP00000261769:p.Asp819Asn		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D819N	ENST00000261769.5	37	c.2455	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825776	0.50739	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.80653	-1.4;-1.4	6.04	5.09	0.68999	Cadherin, cytoplasmic domain (1);	0.000000	0.53938	D	0.000060	T	0.81884	0.4917	L	0.49778	1.585	0.80722	D	1	P;P	0.40032	0.699;0.581	P;P	0.47786	0.557;0.447	T	0.81588	-0.0864	10	0.44086	T	0.13	.	14.8672	0.70425	0.0692:0.0:0.9308:0.0	.	758;819	Q9UII8;P12830	.;CADH1_HUMAN	N	819;837;758	ENSP00000261769:D819N;ENSP00000414946:D758N	ENSP00000261769:D819N	D	+	1	0	CDH1	67424709	1.000000	0.71417	0.045000	0.18777	0.058000	0.15608	7.946000	0.87746	1.557000	0.49525	0.563000	0.77884	GAT	CDH1	-	pfam_Cadherin_cytoplasmic-dom		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	G	NM_004360		68867208	1	no_errors	ENST00000261769	ensembl	human	known	70_37	missense	SNP	0.998	A	A	68867208	G	A	68867208	3	1	151	1	0	0	0	0	1	0	0	0	3100	1290	45	1	2517	1	CDH1	16	68867208	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	810138	68867208	21487545	707	25340										
NFAT5	10725	genome.wustl.edu	37	chr16	69727884	69727884	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacaagggtcacctagttctCaagagcagcaagtaactctc	8	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:69727884C>T	ENST00000354436.2	+	12	4420	c.4102C>T	c.(4102-4104)Caa>Taa	p.Q1368*	NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1292*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1292*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1386*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q1292*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1385*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1368					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACCTAGTTCTCAAGAGCAGCA	0.473																																																	0													140	113	122					16																	69727884		2198	4300	6498	SO:0001587	stop_gained	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4102C>T	16.37:g.69727884C>T	ENSP00000346420:p.Gln1368*		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.Q1386*	ENST00000354436.2	37	c.4156	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.384360	0.99155	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.69	5.69	0.88448	.	0.152298	0.44097	D	0.000481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.9232	19.8016	0.96509	0.0:1.0:0.0:0.0	.	.	.	.	X	1386;1385;1292;1368;1292	.	ENSP00000338806:Q1292X	Q	+	1	0	NFAT5	68285385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.290000	0.51755	2.677000	0.91161	0.655000	0.94253	CAA	NFAT5	-	NULL		0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	C	NM_138714		69727884	1	no_errors	ENST00000432919	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	69727884	C	T	69727884	4	4	151	1	0	0	0	0	0	1	0	0	10384	827	29	1	4206	1	NFAT5	16	69727884	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	860676	69727884	20626869	708	25341										
NFAT5	10725	genome.wustl.edu	37	chr16	69727915	69727915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtaactctcttcttatctcCagcatccatgtctgccttgc	5	14	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:69727915C>T	ENST00000354436.2	+	12	4451	c.4133C>T	c.(4132-4134)cCa>cTa	p.P1378L	NFAT5_ENST00000566899.1_Missense_Mutation_p.P1302L|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1302L|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1396L|NFAT5_ENST00000349945.1_Missense_Mutation_p.P1302L|NFAT5_ENST00000567239.1_Missense_Mutation_p.P1395L	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1378					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTATCTCCAGCATCCATG	0.458																																																	0													140	115	124					16																	69727915		2198	4300	6498	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4133C>T	16.37:g.69727915C>T	ENSP00000346420:p.Pro1378Leu		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P1396L	ENST00000354436.2	37	c.4187	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493656	0.44352	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.69	5.69	0.88448	.	0.175287	0.51477	D	0.000090	T	0.38506	0.1043	L	0.38175	1.15	0.58432	D	0.999999	P;P;P	0.41313	0.546;0.745;0.745	B;B;B	0.37346	0.101;0.247;0.247	T	0.34329	-0.9833	10	0.72032	D	0.01	-3.6543	19.8016	0.96509	0.0:1.0:0.0:0.0	.	1395;1378;1396	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	L	1396;1395;1302;1378;1302	ENSP00000396538:P1396L;ENSP00000338806:P1302L;ENSP00000346420:P1378L;ENSP00000377343:P1302L	ENSP00000338806:P1302L	P	+	2	0	NFAT5	68285416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.115000	0.57865	2.677000	0.91161	0.655000	0.94253	CCA	NFAT5	-	NULL		0.458	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	C	NM_138714		69727915	1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69727915	C	T	69727915	3	4	151	1	0	0	0	0	1	0	0	0	10384	594	21	4	4237	4	NFAT5	16	69727915	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	31	69727915	20626838	709	25342										
SF3B3	23450	genome.wustl.edu	37	chr16	70603912	70603912	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtttgtgactcacaggcaGaggtgatcatgaactaccat	10	9	2	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:70603912G>A	ENST00000302516.5	+	24	3479	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1090					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCACAGGCAGAGGTGATCAT	0.542																																																	0													111	84	93					16																	70603912		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3268G>A	16.37:g.70603912G>A	ENSP00000305790:p.Glu1090Lys		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.E1090K	ENST00000302516.5	37	c.3268	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551531	0.86127	.	.	ENSG00000189091	ENST00000302516	T	0.48522	0.81	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.22152	0.038	T	0.29822	-0.9999	10	0.38643	T	0.18	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1090	Q15393	SF3B3_HUMAN	K	1090	ENSP00000305790:E1090K	ENSP00000305790:E1090K	E	+	1	0	SF3B3	69161413	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GAG	SF3B3	-	pfam_Cleavage/polyA-sp_fac_asu_C		0.542	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	G	NM_012426		70603912	1	no_errors	ENST00000302516	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70603912	G	A	70603912	3	1	151	1	0	0	0	0	1	0	0	0	14182	943	33	1	3358	1	SF3B3	16	70603912	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	875997	70603912	19750841	710	25343										
PMFBP1	83449	genome.wustl.edu	37	chr16	72159139	72159139	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccctggcagctcctcacctCcagctcactctcctggtgga	8	19	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:72159139C>G	ENST00000237353.10	-	16	2680	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E662Q|PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Missense_Mutation_p.E812Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	812						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCCTCACCTCCAGCTCACTC	0.507											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	84	82					16																	72159139		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2419G>C	16.37:g.72159139C>G	ENSP00000237353:p.Glu807Gln	1135	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.E812Q	ENST00000237353.10	37	c.2434	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591905	0.46214	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19532	2.14;2.14;2.14	5.5	5.5	0.81552	.	0.000000	0.47455	D	0.000227	T	0.44435	0.1293	M	0.70595	2.14	0.32807	D	0.500947	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.996;0.998;0.991	T	0.51348	-0.8717	10	0.26408	T	0.33	-27.4417	14.9047	0.70709	0.0:1.0:0.0:0.0	.	812;807;812	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	812;807;662	ENSP00000443817:E812Q;ENSP00000237353:E807Q;ENSP00000347854:E662Q	ENSP00000237353:E807Q	E	-	1	0	PMFBP1	70716640	0.991000	0.36638	0.964000	0.40570	0.195000	0.23768	3.737000	0.55060	2.585000	0.87301	0.555000	0.69702	GAG	PMFBP1	-	NULL		0.507	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	C	NM_031293		72159139	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	missense	SNP	0.983	G	G	72159139	C	G	72159139	3	3	151	1	0	0	0	0	1	0	0	0	12158	864	30	1	688	1	PMFBP1	16	72159139	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1555227	72159139	18195614	711	25344										
CDH13	1012	genome.wustl.edu	37	chr16	83816988	83816988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagggtacaagtgtgctcctGcaggaattccaaagtggact	12	9	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:83816988G>A	ENST00000566620.1	+	13	2335	c.2045G>A	c.(2044-2046)tGc>tAc	p.C682Y	CDH13_ENST00000428848.3_Missense_Mutation_p.C643Y|CDH13_ENST00000268613.10_Missense_Mutation_p.C729Y	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	682	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGTGCTCCTGCAGGAATTCC	0.527																																																	0													95	94	94					16																	83816988		1996	4165	6161	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2045G>A	16.37:g.83816988G>A	ENSP00000454435:p.Cys682Tyr		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C682Y	ENST00000566620.1	37	c.2045	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280617	0.40294	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.61742	0.08	5.19	4.22	0.49857	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.78426	0.4281	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.85130	0.996;0.997;0.986	T	0.82680	-0.0337	9	0.87932	D	0	.	14.1607	0.65446	0.0:0.0:0.8491:0.1509	.	643;729;682	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	Y	729;682;643;384;241;372	ENSP00000268613:C729Y	ENSP00000268613:C729Y	C	+	2	0	CDH13	82374489	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	8.836000	0.92105	1.156000	0.42514	-0.182000	0.12963	TGC	CDH13	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	G	NM_001257		83816988	1	no_errors	ENST00000566620	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83816988	G	A	83816988	3	1	151	1	0	0	0	0	1	0	0	0	3104	1319	46	4	2095	4	CDH13	16	83816988	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	11657849	83816988	6537765	712	25345										
GINS2	51659	genome.wustl.edu	37	chr16	85711821	85711821	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcaccaggcctttctctaGaagtcctgagactgagtact	9	12	1	3	rs145377561	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:85711821G>T	ENST00000253462.3	-	5	655	c.555C>A	c.(553-555)ttC>ttA	p.F185L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	185					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CCTTTCTCTAGAAGTCCTGAG	0.547																																																	0								G	LEU/PHE	0,4396		0,0,2198	86	85	85		555	-0.4	1	16	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	no	missense	GINS2	NM_016095.2	22	0,2,6496	TT,TG,GG		0.0233,0.0,0.0154	benign	185/186	85711821	2,12994	2198	4300	6498	SO:0001583	missense	51659			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.555C>A	16.37:g.85711821G>T	ENSP00000253462:p.Phe185Leu		D3DUM5|Q6IAG9	Missense_Mutation	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.F185L	ENST00000253462.3	37	c.555	CCDS10953.1	16	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528740	0.44969	0.0	2.33E-4	ENSG00000131153	ENST00000253462	.	.	.	5.18	-0.385	0.12470	.	0.115041	0.64402	N	0.000010	T	0.20047	0.0482	N	0.12182	0.205	0.29413	N	0.861078	B	0.02656	0.0	B	0.01281	0.0	T	0.08411	-1.0723	9	0.42905	T	0.14	.	6.7441	0.23453	0.2558:0.2217:0.5225:0.0	.	185	Q9Y248	PSF2_HUMAN	L	185	.	ENSP00000253462:F185L	F	-	3	2	GINS2	84269322	1.000000	0.71417	0.993000	0.49108	0.804000	0.45430	1.665000	0.37449	0.021000	0.15133	0.655000	0.94253	TTC	GINS2	-	NULL		0.547	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	G	NM_016095		85711821	-1	no_errors	ENST00000253462	ensembl	human	known	70_37	missense	SNP	0.997	T	T	85711821	G	T	85711821	3	4	151	1	0	0	0	0	1	0	0	0	6407	933	33	3	6	3	GINS2	16	85711821	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1894833	85711821	4642932	713	25346										
CBFA2T3	863	genome.wustl.edu	37	chr16	88949138	88949138	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgctctgtgagcttgtggtcGatcacttcttcctgccggga	12	12	3	1	rs532605585	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:88949138G>T	ENST00000268679.4	-	8	1545	c.1149C>A	c.(1147-1149)atC>atA	p.I383I	RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.I307I|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.I345I|CBFA2T3_ENST00000360302.2_Silent_p.I297I|CBFA2T3_ENST00000327483.5_Silent_p.I297I|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000562405.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	383	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTTGTGGTCGATCACTTCTT	0.622			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													201	115	144					16																	88949138		2192	4289	6481	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1149C>A	16.37:g.88949138G>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.I383	ENST00000268679.4	37	c.1149	CCDS10972.1	16																																																																																			CBFA2T3	-	pfam_NHR2		0.622	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	G	NM_005187		88949138	-1	no_errors	ENST00000268679	ensembl	human	known	70_37	silent	SNP	0.140	T	T	88949138	G	T	88949138	2	4	151	1	0	0	0	0	0	0	0	1	2703	1048	37	3		3	CBFA2T3	16	88949138	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3237317	88949138	1405615	714	25347										
DBNDD1	79007	genome.wustl.edu	37	chr16	90075276	90075276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtccgacatgtcggtgagctCagtgaggtccaggaggtcga	16	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:90075276C>T	ENST00000002501.6	-	3	366	c.235G>A	c.(235-237)Gag>Aag	p.E79K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E99K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E199K|DBNDD1_ENST00000392973.3_Missense_Mutation_p.E85K	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	79						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGGTGAGCTCAGTGAGGTCC	0.632																																																	0													33	37	35					16																	90075276		2009	4159	6168	SO:0001583	missense	79007			AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.235G>A	16.37:g.90075276C>T	ENSP00000002501:p.Glu79Lys		B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	pfam_Dysbindin	p.E199K	ENST00000002501.6	37	c.595	CCDS42223.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434905	0.83885	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.45276	0.9;0.9	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68622	-0.5360	9	.	.	.	-34.2443	18.8051	0.92034	0.0:1.0:0.0:0.0	.	79;99	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	K	99;79;199	ENSP00000306407:E99K;ENSP00000002501:E79K	.	E	-	1	0	DBNDD1	88602777	1.000000	0.71417	0.964000	0.40570	0.191000	0.23601	7.436000	0.80404	2.462000	0.83206	0.313000	0.20887	GAG	DBNDD1	-	pfam_Dysbindin		0.632	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBNDD1	HGNC	protein_coding	OTTHUMT00000272872.1	C	NM_024043		90075276	-1	no_errors	ENST00000568838	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90075276	C	T	90075276	3	4	151	1	0	0	0	0	1	0	0	0	4258	835	29	1	249	1	DBNDD1	16	90075276	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1126138	90075276	279477	715	25348										
PRPF8	10594	genome.wustl.edu	37	chr17	1554817	1554817	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcggggactcattgggctGagtgtggatccaacctaagg	15	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:1554817G>C	ENST00000572621.1	-	40	6806	c.6541C>G	c.(6541-6543)Cag>Gag	p.Q2181E	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q2181E|PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2181	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCATTGGGCTGAGTGTGGATC	0.512																																																	0													122	113	116					17																	1554817		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6541C>G	17.37:g.1554817G>C	ENSP00000460348:p.Gln2181Glu		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.Q2181E	ENST00000572621.1	37	c.6541	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408968	0.83340	.	.	ENSG00000174231	ENST00000304992	T	0.62941	-0.01	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.94582	3.555	0.80722	D	1	D	0.53745	0.962	P	0.56088	0.791	D	0.86226	0.1634	10	0.49607	T	0.09	.	19.6035	0.95573	0.0:0.0:1.0:0.0	.	2181	Q6P2Q9	PRP8_HUMAN	E	2181	ENSP00000304350:Q2181E	ENSP00000304350:Q2181E	Q	-	1	0	PRPF8	1501567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.505000	0.97989	2.626000	0.88956	0.655000	0.94253	CAG	PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1554817	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1554817	G	C	1554817	3	2	151	1	0	0	0	0	1	0	0	0	12602	1299	45	1	478	1	PRPF8	17	1554817	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		1554817	79640393	716	25349										
PRPF8	10594	genome.wustl.edu	37	chr17	1554945	1554945	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccatcactccccattaccttGaggtactcatgctggggcag	9	14	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:1554945G>C	ENST00000572621.1	-	39	6772	c.6507C>G	c.(6505-6507)ctC>ctG	p.L2169L	PRPF8_ENST00000304992.6_Silent_p.L2169L|PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2169	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCATTACCTTGAGGTACTCAT	0.577																																																	0													121	125	124					17																	1554945		2203	4300	6503	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6507C>G	17.37:g.1554945G>C			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.L2169	ENST00000572621.1	37	c.6507	CCDS11010.1	17																																																																																			PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.577	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1554945	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1554945	G	C	1554945	2	2	151	1	0	0	0	0	0	0	0	1	12602	1277	45	1		1	PRPF8	17	1554945	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	128	1554945	79640265	717	25350										
ZZEF1	23140	genome.wustl.edu	37	chr17	3928305	3928305	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgtccatgctgctttgcaGaaggtgactggcgataaagg	14	8	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:3928305G>A	ENST00000381638.2	-	43	7124	c.7000C>T	c.(7000-7002)Ctg>Ttg	p.L2334L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2334							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCTTTGCAGAAGGTGACTG	0.542																																																	0													105	95	99					17																	3928305		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7000C>T	17.37:g.3928305G>A			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.L2334	ENST00000381638.2	37	c.7000	CCDS11043.1	17																																																																																			ZZEF1	-	NULL		0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3928305	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3928305	G	A	3928305	2	1	151	1	0	0	0	0	0	0	0	1	18285	933	33	1		1	ZZEF1	17	3928305	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2373360	3928305	77266905	718	25351										
CXCL16	84225	genome.wustl.edu	37	chr17	4642687	4642687	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccacctcgctctgactcccaGacatgctccggcgcgtgacg	10	18	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4642687G>C	ENST00000433935.1	+	0	0				ZMYND15_ENST00000269289.6_5'Flank|ZMYND15_ENST00000592813.1_5'Flank|CXCL16_ENST00000574412.1_Missense_Mutation_p.S2C|ZMYND15_ENST00000573751.2_5'Flank|CXCL16_ENST00000293778.6_Missense_Mutation_p.S2C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15						negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGACTCCCAGACATGCTCCG	0.711																																																	0													22	27	25					17																	4642687		2203	4299	6502	SO:0001631	upstream_gene_variant	58191			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760		17.37:g.4642687G>C	Exception_encountered		B4DXY5|I3L296	Missense_Mutation	SNP	NULL	p.S2C	ENST00000433935.1	37	c.5	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786076	0.16189	.	.	ENSG00000161921	ENST00000293778	T	0.34859	1.34	2.47	1.45	0.22620	.	.	.	.	.	T	0.31670	0.0804	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22452	-1.0216	6	0.40728	T	0.16	2.7632	7.0966	0.25313	0.0:0.2825:0.7175:0.0	.	.	.	.	C	2	ENSP00000293778:S2C	ENSP00000293778:S2C	S	-	2	0	CXCL16	4589436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.386000	0.07370	0.575000	0.29434	-0.315000	0.08773	TCT	CXCL16	-	NULL		0.711	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL16	HGNC	protein_coding	OTTHUMT00000439580.1	G	NM_032265		4642687	-1	no_errors	ENST00000293778	ensembl	human	known	70_37	missense	SNP	0.000	C	C	4642687	G	C	4642687	1	2	151	0	1	0	0	0	0	0	0	0	4088	942	33	1		1	CXCL16	17	4642687	5'Flank	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	714382	4642687	76552523	719	25352										
MINK1	1145	genome.wustl.edu	37	chr17	4799783	4799783	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccaacaccgacggcatggaGatgctgctgtgctacgagga	13	12	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4799783G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000355280.6_Silent_p.E1225E|MINK1_ENST00000453408.3_Silent_p.E1205E|MINK1_ENST00000347992.7_Silent_p.E1196E|C17orf107_ENST00000521575.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACGGCATGGAGATGCTGCTGT	0.592																																																	0													145	153	150					17																	4799783		2186	4268	6454	SO:0001628	intergenic_variant	50488			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799783G>A			D3DTK6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E1225	ENST00000293780.4	37	c.3675	CCDS11058.1	17																																																																																			MINK1	-	pfam_Citron,smart_Citron		0.592	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000207560.3	G			4799783	1	no_errors	ENST00000355280	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4799783	G	A	4799783	1	1	151	0	1	0	0	0	0	0	0	0	9610	933	33	1		1	MINK1	17	4799783	IGR	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	157096	4799783	76395427	720	25353										
KIF1C	10749	genome.wustl.edu	37	chr17	4925560	4925560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctcgcagggtttatcagatCccccagcgacgcaggctgca	11	15	1	1	rs369357478		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4925560C>T	ENST00000320785.5	+	22	2541	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	KIF1C_ENST00000573815.1_3'UTR|AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	728					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TTTATCAGATCCCCCAGCGAC	0.657																																					Melanoma(96;1023 1447 10250 19259 33730)												0													27	29	28					17																	4925560		2203	4300	6503	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2184C>T	17.37:g.4925560C>T			D3DTL6|O75186|Q5U618	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I728	ENST00000320785.5	37	c.2184	CCDS11065.1	17																																																																																			KIF1C	-	NULL		0.657	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	C			4925560	1	no_errors	ENST00000320785	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4925560	C	T	4925560	2	4	151	1	0	0	0	0	0	0	0	1	8305	845	30	1		1	KIF1C	17	4925560	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	125777	4925560	76269650	721	25354										
SLC16A13	201232	genome.wustl.edu	37	chr17	6940134	6940134	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctgcgctggggatgctgctCgcctcttttgctacttcctt	11	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:6940134C>G	ENST00000308027.6	+	2	596	c.288C>G	c.(286-288)ctC>ctG	p.L96L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	96						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGATGCTGCTCGCCTCTTTTG	0.582																																																	0													183	176	178					17																	6940134		2203	4300	6503	SO:0001819	synonymous_variant	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.288C>G	17.37:g.6940134C>G			A3KMG3|A5PKU5|Q2VP92	Silent	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L96	ENST00000308027.6	37	c.288	CCDS11085.1	17																																																																																			SLC16A13	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.582	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	C			6940134	1	no_errors	ENST00000308027	ensembl	human	known	70_37	silent	SNP	0.185	G	G	6940134	C	G	6940134	2	3	151	1	0	0	0	0	0	0	0	1	14436	871	31	1		1	SLC16A13	17	6940134	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2014574	6940134	74255076	722	25355										
PMP22	5376	genome.wustl.edu	37	chr17	15142858	15142858	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agggtgaagagttggcagaaGaacaggaacagagacagaat	15	4	0	6			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:15142858G>C	ENST00000395938.2	-	4	443	c.249C>G	c.(247-249)ttC>ttG	p.F83L	PMP22_ENST00000494511.1_Missense_Mutation_p.L24V|snoU13_ENST00000458745.1_RNA|PMP22_ENST00000312280.3_Missense_Mutation_p.F83L|PMP22_ENST00000426385.3_Missense_Mutation_p.F83L|PMP22_ENST00000395936.1_Missense_Mutation_p.F83L	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	83					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		GTTGGCAGAAGAACAGGAACA	0.493																																																	0													128	99	109					17																	15142858		2203	4300	6503	SO:0001583	missense	5376			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.249C>G	17.37:g.15142858G>C	ENSP00000379269:p.Phe83Leu		Q8WV01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20	p.F83L	ENST00000395938.2	37	c.249	CCDS11168.1	17	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979640	0.53827	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.61	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.93812	0.7111	10	0.26408	T	0.33	-52.2418	14.2282	0.65873	0.0725:0.0:0.9275:0.0	.	83	Q01453	PMP22_HUMAN	L	83	ENSP00000379269:F83L;ENSP00000308937:F83L;ENSP00000409824:F83L;ENSP00000379268:F83L	ENSP00000308937:F83L	F	-	3	2	PMP22	15083583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.515000	0.67049	1.500000	0.48636	0.655000	0.94253	TTC	PMP22	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22		0.493	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	G	NM_000304		15142858	-1	no_errors	ENST00000312280	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15142858	G	C	15142858	3	2	151	1	0	0	0	0	1	0	0	0	12163	933	33	1	241	1	PMP22	17	15142858	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8202724	15142858	66052352	723	25356										
TNFRSF13B	23495	genome.wustl.edu	37	chr17	16852118	16852118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgagttgtctgaattgttttCaacttctccactccgctgtc	7	12	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:16852118C>T	ENST00000261652.2	-	3	391	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E81K|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.E81K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E127K	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	127					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAATTGTTTTCAACTTCTCCA	0.522									IgA Deficiency, Selective																																								0													207	183	191					17																	16852118		2203	4300	6503	SO:0001583	missense	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.379G>A	17.37:g.16852118C>T	ENSP00000261652:p.Glu127Lys		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.E127K	ENST00000261652.2	37	c.379	CCDS11181.1	17	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159547	0.21454	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.92752	-3.1;-3.08	4.43	2.39	0.29439	.	1.609670	0.03617	N	0.235717	D	0.90106	0.6909	L	0.59436	1.845	0.09310	N	1	P;P;P	0.51791	0.948;0.782;0.675	B;B;B	0.41332	0.354;0.327;0.175	T	0.78336	-0.2243	10	0.45353	T	0.12	-1.713	7.2516	0.26152	0.2113:0.6115:0.1772:0.0	.	127;81;127	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	K	81;127	ENSP00000413453:E81K;ENSP00000261652:E127K	ENSP00000261652:E127K	E	-	1	0	TNFRSF13B	16792843	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.064000	0.11636	0.572000	0.29383	0.650000	0.86243	GAA	TNFRSF13B	-	NULL		0.522	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	C			16852118	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	missense	SNP	0.001	T	T	16852118	C	T	16852118	3	4	151	1	0	0	0	0	1	0	0	0	16317	835	29	1	514	1	TNFRSF13B	17	16852118	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1709260	16852118	64343092	724	25357										
SPAG5	10615	genome.wustl.edu	37	chr17	26919672	26919672	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctctaagagatgggacggaGattcctgaaagataggtttc	12	7	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:26919672G>C	ENST00000321765.5	-	3	922	c.590C>G	c.(589-591)tCt>tGt	p.S197C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	197					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGGGACGGAGATTCCTGAAA	0.498																																																	0													102	102	102					17																	26919672		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.590C>G	17.37:g.26919672G>C	ENSP00000323300:p.Ser197Cys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S197C	ENST00000321765.5	37	c.590	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603792	0.03717	.	.	ENSG00000076382	ENST00000321765	T	0.24151	1.87	5.7	4.74	0.60224	.	1.072900	0.07160	N	0.850463	T	0.27594	0.0678	N	0.22421	0.69	0.09310	N	1	P	0.36249	0.545	B	0.44133	0.442	T	0.37686	-0.9695	10	0.87932	D	0	0.837	10.4048	0.44249	0.0891:0.0:0.9109:0.0	.	197	Q96R06	SPAG5_HUMAN	C	197	ENSP00000323300:S197C	ENSP00000323300:S197C	S	-	2	0	SPAG5	23943799	0.069000	0.21087	0.008000	0.14137	0.008000	0.06430	2.129000	0.42055	1.391000	0.46566	0.655000	0.94253	TCT	SPAG5	-	NULL		0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26919672	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.018	C	C	26919672	G	C	26919672	3	2	151	1	0	0	0	0	1	0	0	0	15011	942	33	1	3079	1	SPAG5	17	26919672	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10067554	26919672	54275538	725	25358										
AP2B1	163	genome.wustl.edu	37	chr17	33925300	33925300	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caatgaaaagaaagaaaagaGaaaggaggctgtgaagaaag	13	2	0	6			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:33925300G>T	ENST00000262325.7	+	3	642	c.89G>T	c.(88-90)aGa>aTa	p.R30I	AP2B1_ENST00000589344.1_Missense_Mutation_p.R30I|AP2B1_ENST00000592545.1_Missense_Mutation_p.R30I|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R30I|AP2B1_ENST00000312678.8_Missense_Mutation_p.R30I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	30					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAGAAAAGAGAAAGGAGGCT	0.423																																																	0													113	103	106					17																	33925300		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.89G>T	17.37:g.33925300G>T	ENSP00000262325:p.Arg30Ile		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.R30I	ENST00000262325.7	37	c.89	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870377	0.72065	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000537622	T;T;T	0.30714	1.52;1.52;1.52	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.49256	1.55	0.80722	D	1	B;B;B	0.31625	0.27;0.332;0.005	P;P;B	0.45794	0.493;0.475;0.015	T	0.46020	-0.9221	10	0.87932	D	0	-17.2566	17.7422	0.88410	0.0:0.0:1.0:0.0	.	30;30;30	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	I	30	ENSP00000262325:R30I;ENSP00000314414:R30I;ENSP00000437413:R30I	ENSP00000262325:R30I	R	+	2	0	AP2B1	30949413	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.567000	0.53813	2.509000	0.84616	0.306000	0.20318	AGA	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.423	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	G			33925300	1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33925300	G	T	33925300	3	4	151	1	0	0	0	0	1	0	0	0	741	942	33	3	95	3	AP2B1	17	33925300	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7005628	33925300	47269910	726	25359										
HNF1B	6928	genome.wustl.edu	37	chr17	36104746	36104746	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aggggacaggggcagcgtctCcagcttcaccccgaagttcg	14	13	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:36104746C>G	ENST00000225893.4	-	1	491	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	HNF1B_ENST00000561193.1_Missense_Mutation_p.E44Q|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000427275.2_Missense_Mutation_p.E44Q|HNF1B_ENST00000560016.1_Missense_Mutation_p.E44Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	44					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGCAGCGTCTCCAGCTTCACC	0.667																																					Colon(71;102 1179 9001 27917 43397)												0													47	51	50					17																	36104746		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.130G>C	17.37:g.36104746C>G	ENSP00000225893:p.Glu44Gln		B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.E44Q	ENST00000225893.4	37	c.130	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140141	0.77775	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593	D;D	0.98493	-4.96;-4.96	5.07	4.1	0.47936	Hepatocyte nuclear factor 1, N-terminal (1);	0.095583	0.64402	D	0.000001	D	0.97464	0.9170	L	0.39397	1.21	0.51767	D	0.999934	D;P	0.54397	0.966;0.944	P;P	0.61592	0.891;0.724	D	0.95870	0.8890	10	0.19147	T	0.46	-1.7788	12.4565	0.55708	0.0:0.92:0.0:0.08	.	44;44	E0YMJ6;P35680	.;HNF1B_HUMAN	Q	44	ENSP00000225893:E44Q;ENSP00000412212:E44Q	ENSP00000225893:E44Q	E	-	1	0	HNF1B	33178859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.402000	0.79972	1.354000	0.45846	0.561000	0.74099	GAG	HNF1B	-	pfam_HNF-1_N		0.667	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	C	NM_000458		36104746	-1	no_errors	ENST00000225893	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36104746	C	G	36104746	3	3	151	1	0	0	0	0	1	0	0	0	7272	864	30	1	1579	1	HNF1B	17	36104746	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2179446	36104746	45090464	727	25360										
PIP4K2B	8396	genome.wustl.edu	37	chr17	36935684	36935684	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agccgatggctgaacacgttCctggtaaccaccatgtaggt	11	11	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:36935684C>T	ENST00000269554.3	-	5	1086	c.606G>A	c.(604-606)agG>agA	p.R202R	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	202	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGAACACGTTCCTGGTAACCA	0.547																																																	0													179	132	148					17																	36935684		2203	4300	6503	SO:0001819	synonymous_variant	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.606G>A	17.37:g.36935684C>T			Q5U0E8|Q8TBP2	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R202	ENST00000269554.3	37	c.606	CCDS11329.1	17																																																																																			PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.547	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1	C	NM_003559		36935684	-1	no_errors	ENST00000269554	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36935684	C	T	36935684	2	4	151	1	0	0	0	0	0	0	0	1	11961	854	30	1		1	PIP4K2B	17	36935684	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	830938	36935684	44259526	728	25361										
MED1	5469	genome.wustl.edu	37	chr17	37566171	37566171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgctgtctgaactggatagtCggaccatcctttgaatactg	10	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566171C>T	ENST00000300651.6	-	17	2526	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGGATAGTCGGACCATCCT	0.502										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													140	131	134					17																	37566171		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2303G>A	17.37:g.37566171C>T	ENSP00000300651:p.Arg768Gln		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.R768Q	ENST00000300651.6	37	c.2303	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617724	0.66787	.	.	ENSG00000125686	ENST00000300651	T	0.57752	0.38	5.9	4.93	0.64822	.	.	.	.	.	T	0.41858	0.1177	L	0.27053	0.805	0.54753	D	0.999982	D	0.52996	0.957	B	0.40864	0.342	T	0.38067	-0.9678	9	0.42905	T	0.14	-0.7914	16.6078	0.84835	0.1311:0.8689:0.0:0.0	.	768	Q15648	MED1_HUMAN	Q	768	ENSP00000300651:R768Q	ENSP00000300651:R768Q	R	-	2	0	MED1	34819697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	1.489000	0.48450	0.561000	0.74099	CGA	MED1	-	NULL		0.502	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	C	NM_004774		37566171	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37566171	C	T	37566171	3	4	151	1	0	0	0	0	1	0	0	0	9448	884	31	1	2446	1	MED1	17	37566171	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	630487	37566171	43629039	729	25362			3	110		4	4	780	N	G_C	2.077739e-06
MED1	5469	genome.wustl.edu	37	chr17	37566301	37566301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcagctgtcatgttgacatCaaagatagggttctgtgagt	12	6	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566301C>T	ENST00000300651.6	-	17	2396	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATGTTGACATCAAAGATAGGG	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													146	135	139					17																	37566301		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2173G>A	17.37:g.37566301C>T	ENSP00000300651:p.Asp725Asn		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.D725N	ENST00000300651.6	37	c.2173	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947506	0.73672	.	.	ENSG00000125686	ENST00000300651	T	0.58358	0.34	5.8	5.8	0.92144	.	.	.	.	.	T	0.63686	0.2532	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64799	-0.6322	9	0.56958	D	0.05	-10.3008	20.0505	0.97625	0.0:1.0:0.0:0.0	.	725	Q15648	MED1_HUMAN	N	725	ENSP00000300651:D725N	ENSP00000300651:D725N	D	-	1	0	MED1	34819827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.594000	0.82698	2.739000	0.93911	0.561000	0.74099	GAT	MED1	-	NULL		0.478	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	C	NM_004774		37566301	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37566301	C	T	37566301	3	4	151	1	0	0	0	0	1	0	0	0	9448	826	29	1	2576	1	MED1	17	37566301	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	130	37566301	43628909	730	25363			3	110		4	4	780	N	G_C	2.077739e-06
MED1	5469	genome.wustl.edu	37	chr17	37566664	37566664	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatttgcaacaaactggtaaGaattgggttctgagacacct	10	7	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566664G>C	ENST00000300651.6	-	17	2033	c.1810C>G	c.(1810-1812)Ctt>Gtt	p.L604V	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAACTGGTAAGAATTGGGTTC	0.542										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													127	116	120					17																	37566664		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1810C>G	17.37:g.37566664G>C	ENSP00000300651:p.Leu604Val		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.L604V	ENST00000300651.6	37	c.1810	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430920	0.43122	.	.	ENSG00000125686	ENST00000300651	T	0.66815	-0.23	5.46	5.46	0.80206	.	.	.	.	.	T	0.72827	0.3509	N	0.24115	0.695	0.54753	D	0.999987	D	0.63880	0.993	D	0.70016	0.967	T	0.74830	-0.3531	9	0.51188	T	0.08	-9.2164	19.3101	0.94184	0.0:0.0:1.0:0.0	.	604	Q15648	MED1_HUMAN	V	604	ENSP00000300651:L604V	ENSP00000300651:L604V	L	-	1	0	MED1	34820190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.592000	0.67543	2.560000	0.86352	0.561000	0.74099	CTT	MED1	-	NULL		0.542	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	G	NM_004774		37566664	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37566664	G	C	37566664	3	2	151	1	0	0	0	0	1	0	0	0	9448	942	33	1	2939	1	MED1	17	37566664	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	363	37566664	43628546	731	25364			3	110		4	4	780	N	G_C	2.077739e-06
MED1	5469	genome.wustl.edu	37	chr17	37566950	37566950	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctttcctccgaatagccctCatcgtcacagggatggacat	9	13	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566950C>A	ENST00000394287.3	-	17	1729	c.1524G>T	c.(1522-1524)atG>atT	p.M508I	MED1_ENST00000300651.6_Missense_Mutation_p.M508I			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAATAGCCCTCATCGTCACAG	0.438										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													79	73	75					17																	37566950		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1524G>T	17.37:g.37566950C>A	ENSP00000377828:p.Met508Ile		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.M508I	ENST00000394287.3	37	c.1524		17	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143123	0.57044	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T;T	0.51325	0.71;0.71	5.8	5.8	0.92144	.	.	.	.	.	T	0.66963	0.2843	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.969;0.996	D;D	0.75484	0.914;0.986	T	0.62029	-0.6940	9	0.38643	T	0.18	-9.7254	20.0505	0.97625	0.0:1.0:0.0:0.0	.	508;508	Q15648;Q15648-3	MED1_HUMAN;.	I	508	ENSP00000377828:M508I;ENSP00000300651:M508I	ENSP00000300651:M508I	M	-	3	0	MED1	34820476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.739000	0.93911	0.561000	0.74099	ATG	MED1	-	NULL		0.438	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37566950	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37566950	C	A	37566950	3	1	151	1	0	0	0	0	1	0	0	0	9448	826	29	3	3225	3	MED1	17	37566950	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	286	37566950	43628260	732	25365			3	110		4	4	780	N	G_C	2.077739e-06
KRT20	54474	genome.wustl.edu	37	chr17	39041320	39041320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gatgcggatgccccggcctcCagcacccccataaacgctgg	11	17	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:39041320C>T	ENST00000167588.3	-	1	159	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	40	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CCCCGGCCTCCAGCACCCCCA	0.602																																																	0													58	56	57					17																	39041320		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.118G>A	17.37:g.39041320C>T	ENSP00000167588:p.Gly40Arg		B2R6W7	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.G40R	ENST00000167588.3	37	c.118	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541811	0.85917	.	.	ENSG00000171431	ENST00000167588	D	0.85411	-1.98	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	D	0.92586	0.7645	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90420	0.4416	10	0.25751	T	0.34	.	18.2119	0.89873	0.0:1.0:0.0:0.0	.	40	P35900	K1C20_HUMAN	R	40	ENSP00000167588:G40R	ENSP00000167588:G40R	G	-	1	0	KRT20	36294846	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	7.515000	0.81761	2.737000	0.93849	0.655000	0.94253	GGA	KRT20	-	NULL		0.602	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	C			39041320	-1	no_errors	ENST00000167588	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39041320	C	T	39041320	3	4	151	1	0	0	0	0	1	0	0	0	8478	603	21	4	1188	4	KRT20	17	39041320	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1474370	39041320	42153890	733	25366										
KRT32	3882	genome.wustl.edu	37	chr17	39623157	39623157	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaatgagactggtagtcagGagtcatggtgagcacctggg	16	6	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:39623157G>C	ENST00000225899.3	-	1	524	c.421C>G	c.(421-423)Cct>Gct	p.P141A	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	141	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGGTAGTCAGGAGTCATGGTG	0.592																																																	0													92	83	86					17																	39623157		2203	4300	6503	SO:0001583	missense	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.421C>G	17.37:g.39623157G>C	ENSP00000225899:p.Pro141Ala			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.P141A	ENST00000225899.3	37	c.421	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180349	0.38511	.	.	ENSG00000108759	ENST00000225899	D	0.88277	-2.36	5.23	4.26	0.50523	Filament (1);	0.000000	0.39083	N	0.001479	D	0.89598	0.6761	M	0.63428	1.95	0.19575	N	0.999969	P	0.35456	0.502	B	0.44044	0.439	D	0.83710	0.0187	10	0.54805	T	0.06	.	13.1782	0.59639	0.0772:0.0:0.9228:0.0	.	141	Q14532	K1H2_HUMAN	A	141	ENSP00000225899:P141A	ENSP00000225899:P141A	P	-	1	0	KRT32	36876683	0.001000	0.12720	0.220000	0.23810	0.500000	0.33767	0.679000	0.25291	1.337000	0.45525	0.462000	0.41574	CCT	KRT32	-	pfam_F		0.592	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	G	NM_002278		39623157	-1	no_errors	ENST00000225899	ensembl	human	known	70_37	missense	SNP	0.232	C	C	39623157	G	C	39623157	3	2	151	1	0	0	0	0	1	0	0	0	8488	1174	41	1	953	1	KRT32	17	39623157	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	581837	39623157	41572053	734	25367										
NAGLU	4669	genome.wustl.edu	37	chr17	40690485	40690485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgcccccctcctggcacatCaagcagctttacctgcaggt	8	17	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:40690485C>G	ENST00000225927.2	+	3	761	c.660C>G	c.(658-660)atC>atG	p.I220M	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	220					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCACATCAAGCAGCTTT	0.587																																																	0			GRCh37	CD023526	NAGLU	D							60	67	65					17																	40690485		2203	4300	6503	SO:0001583	missense	4669				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.660C>G	17.37:g.40690485C>G	ENSP00000225927:p.Ile220Met			Missense_Mutation	SNP	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.I220M	ENST00000225927.2	37	c.660	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428921	0.25726	.	.	ENSG00000108784	ENST00000225927	D	0.97888	-4.59	5.42	3.08	0.35506	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.208574	0.41938	D	0.000791	D	0.93187	0.7830	N	0.22421	0.69	0.24182	N	0.995585	B	0.26775	0.159	B	0.27262	0.078	D	0.87485	0.2423	10	0.46703	T	0.11	-21.2764	7.4921	0.27469	0.0:0.6807:0.1434:0.1759	.	220	P54802	ANAG_HUMAN	M	220	ENSP00000225927:I220M	ENSP00000225927:I220M	I	+	3	3	NAGLU	37944011	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.612000	0.24283	1.280000	0.44463	0.555000	0.69702	ATC	NAGLU	-	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF		0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1	C	NM_000263		40690485	1	no_errors	ENST00000225927	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40690485	C	G	40690485	3	3	151	1	0	0	0	0	1	0	0	0	10166	816	29	1	670	1	NAGLU	17	40690485	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1067328	40690485	40504725	735	25368										
EZH1	2145	genome.wustl.edu	37	chr17	40879727	40879727	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acgaagcttcttccattcttCattgaggatctgggtttttt	8	8	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:40879727C>T	ENST00000428826.2	-	4	293	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	EZH1_ENST00000592743.1_Missense_Mutation_p.E58K|EZH1_ENST00000585893.1_Missense_Mutation_p.E58K|EZH1_ENST00000435174.1_5'UTR|EZH1_ENST00000415827.2_Missense_Mutation_p.E58K|EZH1_ENST00000590078.1_5'UTR			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	58					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTCCATTCTTCATTGAGGATC	0.378																																																	0													87	89	88					17																	40879727		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.172G>A	17.37:g.40879727C>T	ENSP00000404658:p.Glu58Lys		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.E58K	ENST00000428826.2	37	c.172	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858337	0.32791	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827	D;D	0.85556	-2.0;-2.0	4.58	4.58	0.56647	.	0.092240	0.64402	D	0.000001	T	0.80253	0.4589	L	0.47716	1.5	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.004;0.007;0.007	T	0.74551	-0.3628	10	0.10636	T	0.68	.	17.5059	0.87745	0.0:1.0:0.0:0.0	.	58;64;58	Q92800-3;Q92800-2;Q92800	.;.;EZH1_HUMAN	K	61;58;58	ENSP00000404658:E58K;ENSP00000407869:E58K	ENSP00000264646:E61K	E	-	1	0	EZH1	38133253	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.089000	0.41672	2.530000	0.85305	0.544000	0.68410	GAA	EZH1	-	pfam_EZH2_WD-Binding		0.378	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40879727	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40879727	C	T	40879727	3	4	151	1	0	0	0	0	1	0	0	0	5345	835	29	1	2143	1	EZH1	17	40879727	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	189242	40879727	40315483	736	25369										
NAGS	162417	genome.wustl.edu	37	chr17	42082117	42082117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggaggcactgggggcgcccGaaggctgagctgtggcgcgc	21	11	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:42082117G>A	ENST00000293404.3	+	1	204	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	29	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGGGCGCCCGAAGGCTGAGC	0.761																																																	0													8	11	10					17																	42082117		1761	3732	5493	SO:0001583	missense	162417			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.86G>A	17.37:g.42082117G>A	ENSP00000293404:p.Arg29Gln		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.R29Q	ENST00000293404.3	37	c.86	CCDS11473.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023896	0.75390	.	.	ENSG00000161653	ENST00000293404	D	0.97016	-4.21	4.48	3.48	0.39840	.	0.090154	0.42548	D	0.000700	D	0.90310	0.6969	L	0.29908	0.895	0.28206	N	0.927153	P	0.50443	0.935	B	0.36608	0.229	D	0.86279	0.1666	10	0.48119	T	0.1	-20.5077	8.6247	0.33881	0.109:0.0:0.891:0.0	.	29	Q8N159	NAGS_HUMAN	Q	29	ENSP00000293404:R29Q	ENSP00000293404:R29Q	R	+	2	0	NAGS	39437643	0.607000	0.26958	0.846000	0.33378	0.078000	0.17371	1.043000	0.30316	2.298000	0.77334	0.455000	0.32223	CGA	NAGS	-	pirsf_GlcNAc_Synth_met		0.761	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1	G	NM_153006		42082117	1	no_errors	ENST00000293404	ensembl	human	known	70_37	missense	SNP	0.593	A	A	42082117	G	A	42082117	3	1	151	1	0	0	0	0	1	0	0	0	10168	1058	37	1	88	1	NAGS	17	42082117	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1202390	42082117	39113093	737	25370										
TMEM101	84336	genome.wustl.edu	37	chr17	42089344	42089344	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttccgaagatgcccacactCtctccaaggagcttcatctg	8	14	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:42089344C>G	ENST00000589334.1	-	5	1041	c.726G>C	c.(724-726)gaG>gaC	p.E242D	TMEM101_ENST00000542039.1_Missense_Mutation_p.E184D|TMEM101_ENST00000206380.3_Missense_Mutation_p.E242D			Q96IK0	TM101_HUMAN	transmembrane protein 101	242					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCCCACACTCTCTCCAAGGA	0.552																																																	0													99	86	90					17																	42089344		2203	4300	6503	SO:0001583	missense	84336			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.726G>C	17.37:g.42089344C>G	ENSP00000468025:p.Glu242Asp		B2R9N6	Missense_Mutation	SNP	NULL	p.E242D	ENST00000589334.1	37	c.726	CCDS11474.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843325	0.32606	.	.	ENSG00000091947	ENST00000206380;ENST00000542039	.	.	.	5.56	5.56	0.83823	.	0.123452	0.56097	D	0.000037	T	0.39332	0.1074	N	0.08118	0	0.38353	D	0.944393	B	0.27732	0.187	B	0.27500	0.08	T	0.36335	-0.9752	9	0.25751	T	0.34	-1.9166	17.0298	0.86458	0.0:1.0:0.0:0.0	.	242	Q96IK0	TM101_HUMAN	D	242;184	.	ENSP00000206380:E242D	E	-	3	2	TMEM101	39444870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.716000	0.37981	2.615000	0.88500	0.484000	0.47621	GAG	TMEM101	-	NULL		0.552	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1	C	NM_032376		42089344	-1	no_errors	ENST00000206380	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42089344	C	G	42089344	3	3	151	1	0	0	0	0	1	0	0	0	16046	912	32	1	51	1	TMEM101	17	42089344	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7227	42089344	39105866	738	25371										
TMEM101	84336	genome.wustl.edu	37	chr17	42090494	42090494	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aacacaagaaagccgccgatGatggcaactgtgcgcgagta	12	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:42090494G>A	ENST00000589334.1	-	4	663	c.348C>T	c.(346-348)atC>atT	p.I116I	TMEM101_ENST00000587529.1_Silent_p.I116I|TMEM101_ENST00000542039.1_Silent_p.I58I|TMEM101_ENST00000206380.3_Silent_p.I116I			Q96IK0	TM101_HUMAN	transmembrane protein 101	116					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGCCGCCGATGATGGCAACTG	0.632																																																	0													32	28	30					17																	42090494		2195	4285	6480	SO:0001819	synonymous_variant	84336			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.348C>T	17.37:g.42090494G>A			B2R9N6	Silent	SNP	NULL	p.I116	ENST00000589334.1	37	c.348	CCDS11474.1	17																																																																																			TMEM101	-	NULL		0.632	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1	G	NM_032376		42090494	-1	no_errors	ENST00000206380	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42090494	G	A	42090494	2	1	151	1	0	0	0	0	0	0	0	1	16046	1280	45	1		1	TMEM101	17	42090494	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1150	42090494	39104716	739	25372										
DLX4	1748	genome.wustl.edu	37	chr17	48050454	48050454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagactcggagaagccgcggCtgtccccggaaccctccgag	13	16	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48050454C>T	ENST00000240306.3	+	2	596	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	DLX4_ENST00000411890.2_Silent_p.L29L|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	101					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GAAGCCGCGGCTGTCCCCGGA	0.632																																																	0													36	45	42					17																	48050454		2203	4300	6503	SO:0001819	synonymous_variant	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.301C>T	17.37:g.48050454C>T			D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.L101	ENST00000240306.3	37	c.301	CCDS11555.1	17																																																																																			DLX4	-	NULL		0.632	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	C			48050454	1	no_errors	ENST00000240306	ensembl	human	known	70_37	silent	SNP	0.343	T	T	48050454	C	T	48050454	2	4	151	1	0	0	0	0	0	0	0	1	4583	796	28	4		4	DLX4	17	48050454	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5959960	48050454	33144756	740	25373										
TMEM92	162461	genome.wustl.edu	37	chr17	48356300	48356300	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccctggaactgccctccatCatccccccagagagggtcag	9	18	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48356300C>T	ENST00000300433.3	+	5	419	c.309C>T	c.(307-309)atC>atT	p.I103I	TMEM92_ENST00000511882.1_3'UTR|RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Silent_p.I103I	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	103	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TGCCCTCCATCATCCCCCCAG	0.637																																																	0													54	63	60					17																	48356300		2203	4300	6503	SO:0001819	synonymous_variant	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.309C>T	17.37:g.48356300C>T			Q8NBF0	Silent	SNP	NULL	p.I103	ENST00000300433.3	37	c.309	CCDS11562.1	17																																																																																			TMEM92	-	NULL		0.637	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48356300	1	no_errors	ENST00000300433	ensembl	human	known	70_37	silent	SNP	0.000	T	T	48356300	C	T	48356300	2	4	151	1	0	0	0	0	0	0	0	1	16251	816	29	1		1	TMEM92	17	48356300	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	305846	48356300	32838910	741	25374										
TMEM92	162461	genome.wustl.edu	37	chr17	48356666	48356666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcattgacaacccggccttCtgagtcacctcctgcctgga	10	15	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48356666C>G	ENST00000300433.3	+	6	587	c.477C>G	c.(475-477)ttC>ttG	p.F159L	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Missense_Mutation_p.F159L	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	159						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						ACCCGGCCTTCTGAGTCACCT	0.612																																																	0													70	75	73					17																	48356666		2203	4300	6503	SO:0001583	missense	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.477C>G	17.37:g.48356666C>G	ENSP00000300433:p.Phe159Leu		Q8NBF0	Missense_Mutation	SNP	NULL	p.F159L	ENST00000300433.3	37	c.477	CCDS11562.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793825	0.90453	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.29142	1.58;1.58	4.53	3.55	0.40652	.	0.141093	0.32935	N	0.005469	T	0.22589	0.0545	L	0.60455	1.87	0.28087	N	0.931978	P	0.40107	0.703	B	0.32393	0.145	T	0.11991	-1.0565	10	0.24483	T	0.36	.	7.5649	0.27872	0.0:0.8804:0.0:0.1196	.	159	Q6UXU6	TMM92_HUMAN	L	159	ENSP00000300433:F159L;ENSP00000425144:F159L	ENSP00000300433:F159L	F	+	3	2	TMEM92	45711665	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	1.930000	0.40124	1.097000	0.41459	0.462000	0.41574	TTC	TMEM92	-	NULL		0.612	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48356666	1	no_errors	ENST00000300433	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48356666	C	G	48356666	3	3	151	1	0	0	0	0	1	0	0	0	16251	912	32	1	495	1	TMEM92	17	48356666	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	366	48356666	32838544	742	25375										
XYLT2	64132	genome.wustl.edu	37	chr17	48432882	48432882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaccaatgaggagctggtggCattcctatccaagaaccggg	13	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48432882C>T	ENST00000017003.2	+	5	1077	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	XYLT2_ENST00000507602.1_Missense_Mutation_p.A343V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	343					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAGCTGGTGGCATTCCTATCC	0.577																																																	0													74	66	69					17																	48432882		2203	4300	6503	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1028C>T	17.37:g.48432882C>T	ENSP00000017003:p.Ala343Val		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.A343V	ENST00000017003.2	37	c.1028	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148646	0.57151	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11930	2.73;2.73	4.47	4.47	0.54385	.	0.429012	0.25935	N	0.027342	T	0.16471	0.0396	L	0.49256	1.55	0.41768	D	0.989756	P	0.35307	0.494	B	0.43155	0.41	T	0.02917	-1.1094	10	0.31617	T	0.26	-10.6094	8.0297	0.30457	0.0:0.8136:0.0:0.1864	.	343	Q9H1B5	XYLT2_HUMAN	V	343	ENSP00000017003:A343V;ENSP00000426501:A343V	ENSP00000017003:A343V	A	+	2	0	XYLT2	45787881	0.940000	0.31905	1.000000	0.80357	0.969000	0.65631	2.011000	0.40922	2.347000	0.79759	0.456000	0.33151	GCA	XYLT2	-	pfam_Glyco_trans_14		0.577	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	C	NM_022167		48432882	1	no_errors	ENST00000017003	ensembl	human	known	70_37	missense	SNP	0.997	T	T	48432882	C	T	48432882	3	4	151	1	0	0	0	0	1	0	0	0	17495	710	25	4	1046	4	XYLT2	17	48432882	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	76216	48432882	32762328	743	25376										
ABCC3	8714	genome.wustl.edu	37	chr17	48745873	48745873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtggaaagaaagaccatctCcccaggtctagagagcccct	10	12	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48745873C>T	ENST00000285238.8	+	14	1945	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	622					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AAGACCATCTCCCCAGGTCTA	0.532																																																	0													78	75	76					17																	48745873		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1865C>T	17.37:g.48745873C>T	ENSP00000285238:p.Ser622Phe		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.S622F	ENST00000285238.8	37	c.1865	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234229	0.58886	.	.	ENSG00000108846	ENST00000285238	T	0.30714	1.52	4.4	4.4	0.53042	.	0.667620	0.13731	N	0.366675	T	0.33469	0.0864	L	0.49571	1.57	0.42599	D	0.993271	P	0.37038	0.579	B	0.36378	0.223	T	0.38394	-0.9663	10	0.72032	D	0.01	-11.7649	17.3441	0.87305	0.0:1.0:0.0:0.0	.	622	O15438	MRP3_HUMAN	F	622	ENSP00000285238:S622F	ENSP00000285238:S622F	S	+	2	0	ABCC3	46100872	0.353000	0.24904	1.000000	0.80357	0.912000	0.54170	3.299000	0.51826	2.155000	0.67459	0.491000	0.48974	TCC	ABCC3	-	tigrfam_Multidrug-R_assoc		0.532	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48745873	1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48745873	C	T	48745873	3	4	151	1	0	0	0	0	1	0	0	0	54	855	30	1	2003	1	ABCC3	17	48745873	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	312991	48745873	32449337	744	25377										
ANKFN1	162282	genome.wustl.edu	37	chr17	54535256	54535256	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgggaagatataaggtggctGaggcaaagcataccaatatc	12	6	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:54535256G>C	ENST00000318698.2	+	13	1517	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	ANKFN1_ENST00000566473.2_Silent_p.L494L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	494										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAGGTGGCTGAGGCAAAGCA	0.478																																																	0													172	141	151					17																	54535256		2203	4300	6503	SO:0001819	synonymous_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1482G>C	17.37:g.54535256G>C				Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.L494	ENST00000318698.2	37	c.1482	CCDS32686.1	17																																																																																			ANKFN1	-	NULL		0.478	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	G	NM_153228		54535256	1	no_errors	ENST00000318698	ensembl	human	known	70_37	silent	SNP	0.816	C	C	54535256	G	C	54535256	2	2	151	1	0	0	0	0	0	0	0	1	625	1277	45	1		1	ANKFN1	17	54535256	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	5789383	54535256	26659954	745	25378										
TRIM25	7706	genome.wustl.edu	37	chr17	54969328	54969328	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caggaggcgctgttgcggccGagcctgctttctgggccctg	16	13	1	0	rs137888736	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:54969328G>A	ENST00000316881.4	-	9	1675	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	TRIM25_ENST00000573108.1_5'Flank|RP11-670E13.5_ENST00000574826.1_RNA|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000537230.1_Silent_p.L542L	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	542	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGTTGCGGCCGAGCCTGCTTT	0.597													G|||	2	0.000399361	0.0015	0	5008	,	,		17533	0		0	False		,,,				2504	0																0								G		14,4392	23.3+/-48.9	0,14,2189	80	71	74		1626	-6.3	1	17	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	TRIM25	NM_005082.4		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		542/631	54969328	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1626C>T	17.37:g.54969328G>A				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L542	ENST00000316881.4	37	c.1626	CCDS11591.1	17																																																																																			TRIM25	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.597	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	G	NM_005082		54969328	-1	no_errors	ENST00000316881	ensembl	human	known	70_37	silent	SNP	0.987	A	A	54969328	G	A	54969328	2	1	151	1	0	0	0	0	0	0	0	1	16530	1045	37	1		1	TRIM25	17	54969328	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	434072	54969328	26225882	746	25379										
SCPEP1	59342	genome.wustl.edu	37	chr17	55058454	55058454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtttcaggagctgtcattGactggcccacagaggagggc	14	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:55058454G>C	ENST00000262288.3	+	2	143	c.88G>C	c.(88-90)Gac>Cac	p.D30H	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	30					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGTCATTGACTGGCCCAC	0.493																																																	0													103	86	92					17																	55058454		2203	4300	6503	SO:0001583	missense	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.88G>C	17.37:g.55058454G>C	ENSP00000262288:p.Asp30His		Q96A94|Q9H3F0	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.D30H	ENST00000262288.3	37	c.88	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724587	0.30593	.	.	ENSG00000121064	ENST00000262288	T	0.18338	2.22	5.84	-5.61	0.02489	.	1.161670	0.06536	U	0.742321	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.37337	-0.9710	10	0.45353	T	0.12	-27.4175	13.6569	0.62344	0.6442:0.0:0.3558:0.0	.	30	Q9HB40	RISC_HUMAN	H	30	ENSP00000262288:D30H	ENSP00000262288:D30H	D	+	1	0	SCPEP1	52413453	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.471000	0.06631	-0.965000	0.03591	-0.140000	0.14226	GAC	SCPEP1	-	NULL		0.493	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	G	NM_021626		55058454	1	no_errors	ENST00000262288	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55058454	G	C	55058454	3	2	151	1	0	0	0	0	1	0	0	0	13965	1290	45	1	94	1	SCPEP1	17	55058454	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	89126	55058454	26136756	747	25380										
MTMR4	9110	genome.wustl.edu	37	chr17	56581221	56581221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcagataaacagctgtccaGaggtgcagggcccggacatg	15	10	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:56581221G>A	ENST00000323456.5	-	15	1819	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	MTMR4_ENST00000579925.1_Silent_p.L508L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	565	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTGTCCAGAGGTGCAGGG	0.507																																																	0													134	133	134					17																	56581221		2203	4300	6503	SO:0001819	synonymous_variant	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1695C>T	17.37:g.56581221G>A			D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.L565	ENST00000323456.5	37	c.1695	CCDS11608.1	17																																																																																			MTMR4	-	NULL		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	G	NM_004687		56581221	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56581221	G	A	56581221	2	1	151	1	0	0	0	0	0	0	0	1	9969	929	33	1		1	MTMR4	17	56581221	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1522767	56581221	24613989	748	25381										
SMARCD2	6603	genome.wustl.edu	37	chr17	61914582	61914582	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtagaaccttatctgccatCttcctcctctttaacctggg	7	13	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:61914582C>G	ENST00000448276.2	-	3	682	c.417G>C	c.(415-417)aaG>aaC	p.K139N	SMARCD2_ENST00000225742.9_Missense_Mutation_p.K64N|RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000323347.10_Missense_Mutation_p.K91N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	139					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TATCTGCCATCTTCCTCCTCT	0.542																																																	0													56	54	55					17																	61914582		1927	4139	6066	SO:0001583	missense	6603			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.417G>C	17.37:g.61914582C>G	ENSP00000392617:p.Lys139Asn		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.K139N	ENST00000448276.2	37	c.417	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	13.73	2.325186	0.41197	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.48836	0.8;0.8	5.36	5.36	0.76844	.	0.042152	0.85682	D	0.000000	T	0.71434	0.3339	M	0.83603	2.65	0.80722	D	1	D;P;D	0.76494	0.999;0.923;0.986	D;P;P	0.78314	0.991;0.649;0.764	T	0.74945	-0.3491	10	0.72032	D	0.01	-0.0423	16.6237	0.84936	0.0:1.0:0.0:0.0	.	91;102;139	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	139;81;102;91	ENSP00000392617:K139N;ENSP00000318451:K91N	ENSP00000225742:K81N	K	-	3	2	SMARCD2	59268314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.929000	0.48916	2.797000	0.96272	0.561000	0.74099	AAG	SMARCD2	-	NULL		0.542	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	C	NM_001098426		61914582	-1	no_errors	ENST00000448276	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61914582	C	G	61914582	3	3	151	1	0	0	0	0	1	0	0	0	14808	912	32	1	1222	1	SMARCD2	17	61914582	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5333361	61914582	19280628	749	25382										
SCN4A	6329	genome.wustl.edu	37	chr17	62022075	62022075	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgtcaatgatgacgccaatGaagaggttgagggtgaagaa	14	4	1	7			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:62022075G>A	ENST00000435607.1	-	21	3946	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	SCN4A_ENST00000578147.1_Silent_p.F1290F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1290					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACGCCAATGAAGAGGTTGA	0.542																																																	0													110	112	111					17																	62022075		2189	4299	6488	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3870C>T	17.37:g.62022075G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F1290	ENST00000435607.1	37	c.3870	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62022075	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62022075	G	A	62022075	2	1	151	1	0	0	0	0	0	0	0	1	13950	1281	45	1		1	SCN4A	17	62022075	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	107493	62022075	19173135	750	25383										
SCN4A	6329	genome.wustl.edu	37	chr17	62022108	62022108	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgaagaaggagccaaagatGatgaagatgacaaagtagag	14	3	0	8			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:62022108G>A	ENST00000435607.1	-	21	3913	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	SCN4A_ENST00000578147.1_Silent_p.I1279I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1279					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCAAAGATGATGAAGATGA	0.532																																																	0													145	146	146					17																	62022108		2190	4299	6489	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3837C>T	17.37:g.62022108G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.I1279	ENST00000435607.1	37	c.3837	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.532	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62022108	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62022108	G	A	62022108	2	1	151	1	0	0	0	0	0	0	0	1	13950	1280	45	1		1	SCN4A	17	62022108	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	33	62022108	19173102	751	25384										
RGS9	8787	genome.wustl.edu	37	chr17	63204072	63204072	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgctatttaaaatctccgatCtataaggacatgctggccaa	7	10	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:63204072C>G	ENST00000262406.9	+	16	1303	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	RGS9_ENST00000449996.3_Missense_Mutation_p.I409M|RGS9_ENST00000443584.3_Missense_Mutation_p.I409M	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	412	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AATCTCCGATCTATAAGGACA	0.398																																																	0													111	96	100					17																	63204072		1843	4089	5932	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1236C>G	17.37:g.63204072C>G	ENSP00000262406:p.Ile412Met		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.I412M	ENST00000262406.9	37	c.1236	CCDS42373.1	17	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100957	0.20552	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.02032	4.49;4.49	5.34	4.3	0.51218	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.171803	0.52532	D	0.000067	T	0.03477	0.0100	N	0.05414	-0.055	0.38540	D	0.949202	P;D;D	0.56746	0.937;0.977;0.972	P;P;P	0.61722	0.743;0.893;0.828	T	0.68614	-0.5362	10	0.27785	T	0.31	.	13.7359	0.62817	0.2249:0.7751:0.0:0.0	.	412;412;409	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	M	412;409	ENSP00000262406:I412M;ENSP00000396329:I409M	ENSP00000262406:I412M	I	+	3	3	RGS9	60634534	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.105000	0.31086	2.646000	0.89796	0.655000	0.94253	ATC	RGS9	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.398	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	C	NM_003835		63204072	1	no_errors	ENST00000262406	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63204072	C	G	63204072	3	3	151	1	0	0	0	0	1	0	0	0	13343	903	32	1	1298	1	RGS9	17	63204072	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1181964	63204072	17991138	752	25385										
NAT9	26151	genome.wustl.edu	37	chr17	72768120	72768120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgctcaaagtgaagtttctgGaacatccggatgcttggttc	11	8	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:72768120G>T	ENST00000357814.3	-	6	541	c.468C>A	c.(466-468)ttC>ttA	p.F156L	NAT9_ENST00000581136.1_Missense_Mutation_p.F151L|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000578822.1_Missense_Mutation_p.F161L|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000582870.1_Missense_Mutation_p.F160L|NAT9_ENST00000583476.1_Intron|NAT9_ENST00000580632.1_Missense_Mutation_p.F156L|NAT9_ENST00000580301.1_Missense_Mutation_p.F155L	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	156	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GAAGTTTCTGGAACATCCGGA	0.527																																																	0													163	158	160					17																	72768120		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.468C>A	17.37:g.72768120G>T	ENSP00000350467:p.Phe156Leu		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.F156L	ENST00000357814.3	37	c.468	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479213	0.44044	.	.	ENSG00000109065	ENST00000357814	T	0.36520	1.25	5.09	3.06	0.35304	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.55792	-0.8085	10	0.66056	D	0.02	-17.8313	12.3453	0.55118	0.1461:0.0:0.8539:0.0	.	155;156	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	L	156	ENSP00000350467:F156L	ENSP00000350467:F156L	F	-	3	2	NAT9	70279715	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.382000	0.59594	1.286000	0.44565	0.561000	0.74099	TTC	NAT9	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase		0.527	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	G	NM_015654		72768120	-1	no_errors	ENST00000357814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	72768120	G	T	72768120	3	4	151	1	0	0	0	0	1	0	0	0	10205	1165	41	3	163	3	NAT9	17	72768120	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	9564048	72768120	8427090	753	25386										
GRIN2C	2905	genome.wustl.edu	37	chr17	72843459	72843459	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccacaaccttcttgtcactGaggcccgacacagtgtcgat	8	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:72843459G>T	ENST00000293190.5	-	9	2135	c.1989C>A	c.(1987-1989)ctC>ctA	p.L663L	GRIN2C_ENST00000347612.4_Silent_p.L663L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	663					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTGTCACTGAGGCCCGACA	0.622																																																	0													93	85	87					17																	72843459		2203	4300	6503	SO:0001819	synonymous_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1989C>A	17.37:g.72843459G>T			B2RTT1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L663	ENST00000293190.5	37	c.1989	CCDS32724.1	17																																																																																			GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	G			72843459	-1	no_errors	ENST00000293190	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72843459	G	T	72843459	2	4	151	1	0	0	0	0	0	0	0	1	6801	1277	45	3		3	GRIN2C	17	72843459	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	75339	72843459	8351751	754	25387										
NT5C	30833	genome.wustl.edu	37	chr17	73127279	73127279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccccctctctccttactccGgtaggtcgttcatctcccgc	6	20	3	0	rs146917283		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73127279G>A	ENST00000245552.2	-	2	359	c.272C>T	c.(271-273)cCg>cTg	p.P91L	NT5C_ENST00000578337.1_Missense_Mutation_p.P5L|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582160.1_Missense_Mutation_p.P5L|NT5C_ENST00000582170.1_Missense_Mutation_p.P91L	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	91					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	TCCTTACTCCGGTAGGTCGTT	0.657																																																	0													33	41	38					17																	73127279		2201	4299	6500	SO:0001583	missense	30833			AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.272C>T	17.37:g.73127279G>A	ENSP00000245552:p.Pro91Leu		Q96HS6|Q9NP82	Missense_Mutation	SNP	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	p.P91L	ENST00000245552.2	37	c.272	CCDS11715.1	17	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778925	0.16120	.	.	ENSG00000125458	ENST00000245552	T	0.42900	0.96	4.36	-5.59	0.02505	HAD-like domain (2);	1.295740	0.05017	N	0.472100	T	0.26666	0.0652	L	0.27053	0.805	0.09310	N	0.999998	P	0.34724	0.465	B	0.24848	0.056	T	0.29610	-1.0006	10	0.59425	D	0.04	.	11.9379	0.52884	0.1091:0.0:0.7037:0.1872	.	91	Q8TCD5	NT5C_HUMAN	L	91	ENSP00000245552:P91L	ENSP00000245552:P91L	P	-	2	0	NT5C	70638874	0.000000	0.05858	0.024000	0.17045	0.126000	0.20510	0.196000	0.17176	-1.199000	0.02666	-0.397000	0.06425	CCG	NT5C	-	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom		0.657	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C	HGNC	protein_coding	OTTHUMT00000445853.1	G			73127279	-1	no_errors	ENST00000245552	ensembl	human	known	70_37	missense	SNP	0.089	A	A	73127279	G	A	73127279	3	1	151	1	0	0	0	0	1	0	0	0	10708	1116	39	2	349	2	NT5C	17	73127279	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	283820	73127279	8067931	755	25388										
CASKIN2	57513	genome.wustl.edu	37	chr17	73499965	73499965	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcggctgatggtaggcacatCatagccggcctgcagaaagt	14	10	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73499965C>T	ENST00000321617.3	-	15	2132	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D434N	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	516	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTAGGCACATCATAGCCGGCC	0.682																																																	0													38	32	34					17																	73499965		2203	4300	6503	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1546G>A	17.37:g.73499965C>T	ENSP00000325355:p.Asp516Asn		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.D516N	ENST00000321617.3	37	c.1546	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.137052	0.94517	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.57595	0.39;0.39	4.43	4.43	0.53597	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.45126	D	0.000384	T	0.77130	0.4085	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82633	-0.0361	10	0.66056	D	0.02	.	17.3036	0.87189	0.0:1.0:0.0:0.0	.	516	Q8WXE0	CSKI2_HUMAN	N	516;434	ENSP00000325355:D516N;ENSP00000406963:D434N	ENSP00000325355:D516N	D	-	1	0	CASKIN2	71011560	1.000000	0.71417	0.348000	0.25681	0.972000	0.66771	7.556000	0.82233	2.306000	0.77630	0.650000	0.86243	GAT	CASKIN2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.682	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73499965	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.998	T	T	73499965	C	T	73499965	3	4	151	1	0	0	0	0	1	0	0	0	2672	826	29	1	2086	1	CASKIN2	17	73499965	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	372686	73499965	7695245	756	25389										
LLGL2	3993	genome.wustl.edu	37	chr17	73559502	73559502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccagtggcccgtgtccagcGaagcccagcaaccagagccc	12	17	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73559502G>A	ENST00000392550.3	+	8	901	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	LLGL2_ENST00000577200.1_Missense_Mutation_p.E262K|LLGL2_ENST00000375227.4_Missense_Mutation_p.E262K|LLGL2_ENST00000578363.1_Missense_Mutation_p.E262K|LLGL2_ENST00000167462.5_Missense_Mutation_p.E262K	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	262					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGTGTCCAGCGAAGCCCAGCA	0.657																																																	0													40	40	40					17																	73559502		2202	4298	6500	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.784G>A	17.37:g.73559502G>A	ENSP00000376333:p.Glu262Lys		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.E262K	ENST00000392550.3	37	c.784	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601326	0.28534	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.30714	1.58;1.58;1.52	5.56	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.412070	0.30003	N	0.010649	T	0.27063	0.0663	L	0.54323	1.7	0.34918	D	0.748123	B;B;B;B;B	0.16396	0.01;0.017;0.012;0.003;0.005	B;B;B;B;B	0.13407	0.003;0.007;0.009;0.001;0.005	T	0.25572	-1.0128	10	0.19147	T	0.46	-0.3829	11.2935	0.49265	0.0686:0.1274:0.8039:0.0	.	251;251;262;262;262	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	K	262;262;262;251	ENSP00000167462:E262K;ENSP00000376333:E262K;ENSP00000364375:E262K	ENSP00000167462:E262K	E	+	1	0	LLGL2	71071097	0.988000	0.35896	0.020000	0.16555	0.226000	0.24999	3.051000	0.49885	0.696000	0.31696	0.561000	0.74099	GAA	LLGL2	-	superfamily_WD40_repeat_dom		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	G	NM_004524		73559502	1	no_errors	ENST00000392550	ensembl	human	known	70_37	missense	SNP	0.725	A	A	73559502	G	A	73559502	3	1	151	1	0	0	0	0	1	0	0	0	8855	1059	37	1	810	1	LLGL2	17	73559502	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	59537	73559502	7635708	757	25390										
H3F3B	3021	genome.wustl.edu	37	chr17	73774739	73774739	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgggcatgatggtgactctCttagcgtggatggcacacag	14	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73774739C>T	ENST00000254810.4	-	4	480	c.348G>A	c.(346-348)aaG>aaA	p.K116K	H3F3B_ENST00000589599.1_Silent_p.K116K|H3F3B_ENST00000586607.1_Silent_p.K116K|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000587560.1_Silent_p.K116K|H3F3B_ENST00000592643.1_Missense_Mutation_p.R92K	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	116					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGTGACTCTCTTAGCGTGGA	0.507																																																	0													126	121	123					17																	73774739		2203	4300	6503	SO:0001819	synonymous_variant	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"Histones / Replication-independent"	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.348G>A	17.37:g.73774739C>T			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	superfamily_Histone-fold,prints_Histone_H3	p.R92K	ENST00000254810.4	37	c.275	CCDS11729.1	17																																																																																			H3F3B	-	NULL		0.507	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	C	NM_005324		73774739	-1	no_errors	ENST00000592643	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	73774739	C	T	73774739	2	4	151	1	0	0	0	0	0	0	0	1	6954	912	32	1		1	H3F3B	17	73774739	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	215237	73774739	7420471	758	25391										
SRP68	6730	genome.wustl.edu	37	chr17	74066478	74066478	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctgtacctctgaaaatctcCatgccgtaaaccatgctgct	6	14	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:74066478C>A	ENST00000307877.2	-	2	393	c.232G>T	c.(232-234)Gga>Tga	p.G78*	SRP68_ENST00000355113.5_Intron|SRP68_ENST00000539137.1_Nonsense_Mutation_p.G78*	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGAAAATCTCCATGCCGTAAA	0.368																																																	0													126	110	116					17																	74066478		2203	4300	6503	SO:0001587	stop_gained	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.232G>T	17.37:g.74066478C>A	ENSP00000312066:p.Gly78*		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Nonsense_Mutation	SNP	NULL	p.G78*	ENST00000307877.2	37	c.232	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.165594	0.97338	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	4.14	4.14	0.48551	.	0.158911	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-12.0761	17.319	0.87231	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000307756:G78X	G	-	1	0	SRP68	71578073	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.254000	0.78329	2.246000	0.74042	0.455000	0.32223	GGA	SRP68	-	NULL		0.368	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	C	NM_014230		74066478	-1	no_errors	ENST00000307877	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	74066478	C	A	74066478	4	1	151	1	0	0	0	0	0	1	0	0	15186	603	21	4	1711	4	SRP68	17	74066478	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	291739	74066478	7128732	759	25392										
DNAH17	8632	genome.wustl.edu	37	chr17	76430271	76430271	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagagcatgcacttgaactCcatctccttggtgcacatct	8	12	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:76430271C>G	ENST00000585328.1	-	75	12173	c.12049G>C	c.(12049-12051)Gag>Cag	p.E4017Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E4016Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4016	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			CACTTGAACTCCATCTCCTTG	0.592																																																	0													122	105	111					17																	76430271		2203	4300	6503	SO:0001583	missense	8632			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.12049G>C	17.37:g.76430271C>G	ENSP00000465516:p.Glu4017Gln		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E4016Q	ENST00000585328.1	37	c.12046		17	.	.	.	.	.	.	.	.	.	.	C	31	5.093890	0.94149	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10960	2.82	5.29	5.29	0.74685	.	0.206903	0.33419	N	0.004937	T	0.35219	0.0924	M	0.72353	2.195	0.50813	D	0.999893	P	0.49185	0.92	D	0.70487	0.969	T	0.03887	-1.0995	10	0.87932	D	0	.	18.9675	0.92702	0.0:1.0:0.0:0.0	.	4017	E7EUM8	.	Q	4017;4016	ENSP00000374490:E4016Q	ENSP00000300671:E4017Q	E	-	1	0	DNAH17	73941866	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.673000	0.83973	2.497000	0.84241	0.555000	0.69702	GAG	DNAH17	-	pfam_Dynein_heavy_dom		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76430271	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76430271	C	G	76430271	3	3	151	1	0	0	0	0	1	0	0	0	4611	864	30	1	1352	1	DNAH17	17	76430271	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2363793	76430271	4764939	760	25393										
TIMP2	7077	genome.wustl.edu	37	chr17	76867018	76867018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctttcctccaacgtccagcGagaccccacacactgccgag	7	18	1	1	rs368947971		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:76867018G>A	ENST00000262768.7	-	3	600	c.302C>T	c.(301-303)tCg>tTg	p.S101L	TIMP2_ENST00000585421.1_Missense_Mutation_p.S24L|TIMP2_ENST00000586057.1_Missense_Mutation_p.S24L|TIMP2_ENST00000536189.2_Missense_Mutation_p.S24L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	101	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.			S -> E (in Ref. 6; AA sequence and 7; AA sequence). {ECO:0000305}.	aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			AACGTCCAGCGAGACCCCACA	0.547																																																	0								G	LEU/SER	0,4406		0,0,2203	114	106	109		302	4.8	1	17		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMP2	NM_003255.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	101/221	76867018	1,13005	2203	4300	6503	SO:0001583	missense	7077				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.302C>T	17.37:g.76867018G>A	ENSP00000262768:p.Ser101Leu		Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.S101L	ENST00000262768.7	37	c.302	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680196	0.68042	0.0	1.16E-4	ENSG00000035862	ENST00000262768;ENST00000536189	D;D	0.93488	-3.23;-3.23	4.82	4.82	0.62117	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.136081	0.46758	D	0.000267	D	0.88474	0.6446	L	0.34521	1.04	0.30129	N	0.805011	P	0.46987	0.888	B	0.37015	0.239	D	0.86742	0.1955	10	0.42905	T	0.14	.	16.7324	0.85438	0.0:0.0:1.0:0.0	.	101	P16035	TIMP2_HUMAN	L	101;24	ENSP00000262768:S101L;ENSP00000441724:S24L	ENSP00000262768:S101L	S	-	2	0	TIMP2	74378613	0.925000	0.31364	1.000000	0.80357	0.982000	0.71751	3.065000	0.49994	2.235000	0.73313	0.435000	0.28638	TCG	TIMP2	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.547	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP2	HGNC	protein_coding	OTTHUMT00000335662.1	G	NM_003255		76867018	-1	no_errors	ENST00000262768	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76867018	G	A	76867018	3	1	151	1	0	0	0	0	1	0	0	0	15948	1059	37	1	372	1	TIMP2	17	76867018	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	436747	76867018	4328192	761	25394										
LGALS3BP	3959	genome.wustl.edu	37	chr17	76969269	76969269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccaagggcctccgagagctCcctggagaggtccagggtgt	16	12	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:76969269C>T	ENST00000262776.3	-	5	720	c.412G>A	c.(412-414)Gag>Aag	p.E138K	LGALS3BP_ENST00000585407.1_Missense_Mutation_p.E138K|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	138					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCGAGAGCTCCCTGGAGAGG	0.652																																					GBM(89;1105 1755 18102 21513)												0													11	12	11					17																	76969269		2196	4299	6495	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.412G>A	17.37:g.76969269C>T	ENSP00000262776:p.Glu138Lys		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.E138K	ENST00000262776.3	37	c.412	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	C	1.750	-0.489570	0.04352	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.21543	2.0	2.9	1.93	0.25924	BTB/POZ fold (2);	0.000000	0.34245	N	0.004132	T	0.12646	0.0307	L	0.39898	1.24	0.09310	N	0.999991	B	0.12013	0.005	B	0.12156	0.007	T	0.30679	-0.9970	10	0.10111	T	0.7	.	5.8289	0.18568	0.0:0.8513:0.0:0.1487	.	138	Q08380	LG3BP_HUMAN	K	138;126	ENSP00000262776:E138K	ENSP00000262776:E138K	E	-	1	0	LGALS3BP	74480864	0.006000	0.16342	0.204000	0.23530	0.057000	0.15508	1.010000	0.29898	0.809000	0.34255	0.561000	0.74099	GAG	LGALS3BP	-	superfamily_BTB/POZ_fold		0.652	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	C	NM_005567		76969269	-1	no_errors	ENST00000262776	ensembl	human	known	70_37	missense	SNP	0.245	T	T	76969269	C	T	76969269	3	4	151	1	0	0	0	0	1	0	0	0	8764	864	30	1	1353	1	LGALS3BP	17	76969269	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	102251	76969269	4225941	762	25395										
SLC38A10	124565	genome.wustl.edu	37	chr17	79219518	79219518	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccaatgatgaccccatccctCggggccagctgaccctctgc	9	18	1	3	rs201014536		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:79219518C>T	ENST00000374759.3	-	16	3581	c.3198G>A	c.(3196-3198)ccG>ccA	p.P1066P		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1066					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCCCATCCCTCGGGGCCAGCT	0.677																																																	0								C		1,4087		0,1,2043	28	32	31		3198	-8.1	0	17		31	7,8319		0,7,4156	no	coding-synonymous	SLC38A10	NM_001037984.1		0,8,6199	TT,TC,CC		0.0841,0.0245,0.0644		1066/1120	79219518	8,12406	2044	4163	6207	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3198G>A	17.37:g.79219518C>T			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.P1066	ENST00000374759.3	37	c.3198	CCDS42397.1	17																																																																																			SLC38A10	-	NULL		0.677	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	C	NM_138570		79219518	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	silent	SNP	0.000	T	T	79219518	C	T	79219518	2	4	151	1	0	0	0	0	0	0	0	1	14632	871	31	1		1	SLC38A10	17	79219518	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2250249	79219518	1975692	763	25396										
SLC38A10	124565	genome.wustl.edu	37	chr17	79219761	79219761	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcccccccgcgggcctttctCatctccaggtgaccgccatg	9	19	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:79219761C>T	ENST00000374759.3	-	16	3338	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	985					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGCCTTTCTCATCTCCAGGT	0.687																																																	0													24	28	27					17																	79219761		1937	4116	6053	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2955G>A	17.37:g.79219761C>T	ENSP00000363891:p.Met985Ile		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.M985I	ENST00000374759.3	37	c.2955	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072617	0.01918	.	.	ENSG00000157637	ENST00000374759	T	0.07444	3.19	4.23	-8.46	0.00942	.	.	.	.	.	T	0.05181	0.0138	L	0.29908	0.895	0.09310	N	1	B	0.20164	0.042	B	0.11329	0.006	T	0.33854	-0.9852	9	0.21540	T	0.41	.	11.0019	0.47611	0.0:0.1643:0.3771:0.4586	.	985	Q9HBR0	S38AA_HUMAN	I	985	ENSP00000363891:M985I	ENSP00000363891:M985I	M	-	3	0	SLC38A10	76834356	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-2.600000	0.00892	-2.733000	0.00383	-0.373000	0.07131	ATG	SLC38A10	-	NULL		0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	C	NM_138570		79219761	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	missense	SNP	0.000	T	T	79219761	C	T	79219761	3	4	151	1	0	0	0	0	1	0	0	0	14632	826	29	1	408	1	SLC38A10	17	79219761	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	243	79219761	1975449	764	25397										
SLC38A10	124565	genome.wustl.edu	37	chr17	79244820	79244820	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctgtgaggcccaggatggtCtccactaggatggagaagtg	15	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:79244820C>G	ENST00000374759.3	-	10	1412	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.E343D	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	343					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGATGGTCTCCACTAGGA	0.582																																																	0													71	63	66					17																	79244820		2203	4300	6503	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1029G>C	17.37:g.79244820C>G	ENSP00000363891:p.Glu343Asp		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E343D	ENST00000374759.3	37	c.1029	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839006	0.71373	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.02197	4.4;4.4	5.07	1.92	0.25849	.	0.280600	0.32068	N	0.006624	T	0.07999	0.0200	L	0.56769	1.78	0.53688	D	0.999977	D;D	0.89917	0.985;1.0	P;D	0.79108	0.891;0.992	T	0.03374	-1.1043	10	0.54805	T	0.06	-35.3452	9.4059	0.38462	0.0:0.6759:0.0:0.3241	.	343;343	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	D	343	ENSP00000363891:E343D;ENSP00000288439:E343D	ENSP00000288439:E343D	E	-	3	2	SLC38A10	76859415	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	1.287000	0.33284	0.237000	0.21200	0.563000	0.77884	GAG	SLC38A10	-	pfam_AA_transpt_TM		0.582	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	C	NM_138570		79244820	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79244820	C	G	79244820	3	3	151	1	0	0	0	0	1	0	0	0	14632	912	32	1	2636	1	SLC38A10	17	79244820	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	25059	79244820	1950390	765	25398										
FASN	2194	genome.wustl.edu	37	chr17	80041246	80041246	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcagcactgctctcgttgaaGaacgcatccagtaggacccc	9	14	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:80041246G>C	ENST00000306749.2	-	32	5615	c.5397C>G	c.(5395-5397)ttC>ttG	p.F1799L	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1799	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCTCGTTGAAGAACGCATCCA	0.637																																					Colon(59;314 1043 11189 28578 32273)												0													70	69	70					17																	80041246		2202	4298	6500	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5397C>G	17.37:g.80041246G>C	ENSP00000304592:p.Phe1799Leu		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.F1799L	ENST00000306749.2	37	c.5397	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.838672	0.00573	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.28666	1.6	4.1	2.02	0.26589	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.363437	0.28527	N	0.015038	T	0.03608	0.0103	N	0.00043	-2.47	0.22305	N	0.999219	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	10	0.02654	T	1	-21.1277	2.9559	0.05876	0.1675:0.1417:0.5451:0.1457	.	1799	P49327	FAS_HUMAN	L	1799;764	ENSP00000304592:F1799L	ENSP00000304592:F1799L	F	-	3	2	FASN	77634535	0.999000	0.42202	0.007000	0.13788	0.004000	0.04260	0.535000	0.23114	0.334000	0.23590	0.561000	0.74099	TTC	FASN	-	pfam_ADH_C,smart_PKS_ER		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	G	NM_004104		80041246	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	0.992	C	C	80041246	G	C	80041246	3	2	151	1	0	0	0	0	1	0	0	0	5701	933	33	1	2186	1	FASN	17	80041246	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	796426	80041246	1153964	766	25399										
TYMS	7298	genome.wustl.edu	37	chr18	672892	672892	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccagacctttcccaaagctCaggattcttcgaaaagttga	7	12	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:672892C>G	ENST00000323274.10	+	7	976	c.837C>G	c.(835-837)ctC>ctG	p.L279L	TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323224.7_Silent_p.L245L|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323250.5_Silent_p.L196L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	279					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	TCCCAAAGCTCAGGATTCTTC	0.398																																																	0													95	103	101					18																	672892		2203	4300	6503	SO:0001819	synonymous_variant	7298			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.837C>G	18.37:g.672892C>G			Q8WYK3|Q8WYK4	Silent	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.L279	ENST00000323274.10	37	c.837	CCDS11821.1	18																																																																																			TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase		0.398	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1	C	NM_001071		672892	1	no_errors	ENST00000323274	ensembl	human	known	70_37	silent	SNP	1.000	G	G	672892	C	G	672892	2	3	151	1	0	0	0	0	0	0	0	1	16843	813	29	1		1	TYMS	18	672892	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		672892	77404356	767	25400										
NDC80	10403	genome.wustl.edu	37	chr18	2585130	2585130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agatacatactgccatgaaaGaaagctcacctttatttgat	6	8	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:2585130G>A	ENST00000261597.4	+	7	780	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	200	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGCCATGAAAGAAAGCTCACC	0.338																																																	0													100	97	98					18																	2585130		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.598G>A	18.37:g.2585130G>A	ENSP00000261597:p.Glu200Lys		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E200K	ENST00000261597.4	37	c.598	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093575	0.20471	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.64803	-0.12	5.2	4.32	0.51571	.	0.430422	0.29459	N	0.012081	T	0.51652	0.1687	L	0.42245	1.32	0.51482	D	0.99992	B	0.15473	0.013	B	0.12837	0.008	T	0.45483	-0.9258	10	0.10111	T	0.7	-9.317	14.6193	0.68572	0.0:0.145:0.8549:0.0	.	200	O14777	NDC80_HUMAN	K	200	ENSP00000261597:E200K	ENSP00000261597:E200K	E	+	1	0	NDC80	2575130	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.294000	0.51787	1.283000	0.44513	0.650000	0.86243	GAA	NDC80	-	pfam_Kinetochore_Ndc80		0.338	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2585130	1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2585130	G	A	2585130	3	1	151	1	0	0	0	0	1	0	0	0	10266	943	33	1	620	1	NDC80	18	2585130	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1912238	2585130	75492118	768	25401										
ANKRD12	23253	genome.wustl.edu	37	chr18	9257210	9257210	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agatgtagcatgccttctgtCatttgtgaacataccaaaca	7	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:9257210C>T	ENST00000262126.4	+	9	4185	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	ANKRD12_ENST00000400020.3_Silent_p.V1292V|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Silent_p.V1292V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1315						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGCCTTCTGTCATTTGTGAAC	0.403																																																	0													132	125	127					18																	9257210		2203	4300	6503	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3945C>T	18.37:g.9257210C>T			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V1315	ENST00000262126.4	37	c.3945	CCDS11843.1	18																																																																																			ANKRD12	-	NULL		0.403	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	C	NM_015208		9257210	1	no_errors	ENST00000262126	ensembl	human	known	70_37	silent	SNP	0.996	T	T	9257210	C	T	9257210	2	4	151	1	0	0	0	0	0	0	0	1	640	813	29	1		1	ANKRD12	18	9257210	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6672080	9257210	68820038	769	25402										
ANKRD12	23253	genome.wustl.edu	37	chr18	9258423	9258423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tagttaaagtagaattagaaGaaaatgccgaagatgataaa	9	2	0	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:9258423G>A	ENST00000262126.4	+	9	5398	c.5158G>A	c.(5158-5160)Gaa>Aaa	p.E1720K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E1697K|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E1697K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1720						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAATTAGAAGAAAATGCCGA	0.338																																																	0													66	64	65					18																	9258423		2203	4300	6503	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5158G>A	18.37:g.9258423G>A	ENSP00000262126:p.Glu1720Lys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E1720K	ENST00000262126.4	37	c.5158	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717508	0.89205	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.59502	0.26;0.26	5.33	5.33	0.75918	.	0.065231	0.64402	D	0.000011	T	0.68714	0.3031	L	0.32530	0.975	0.51012	D	0.999903	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.71020	-0.4713	10	0.66056	D	0.02	-29.6558	19.3868	0.94560	0.0:0.0:1.0:0.0	.	1697;1720	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	1697;1720	ENSP00000372932:E1697K;ENSP00000262126:E1720K	ENSP00000262126:E1720K	E	+	1	0	ANKRD12	9248423	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.722000	0.74735	2.650000	0.89964	0.655000	0.94253	GAA	ANKRD12	-	NULL		0.338	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9258423	1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9258423	G	A	9258423	3	1	151	1	0	0	0	0	1	0	0	0	640	943	33	1	5188	1	ANKRD12	18	9258423	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1213	9258423	68818825	770	25403										
ROCK1	6093	genome.wustl.edu	37	chr18	18534772	18534772	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggacaaattaagtcctctttCttatctaagtgatctctgtg	7	8	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:18534772C>T	ENST00000399799.2	-	31	4765	c.3825G>A	c.(3823-3825)aaG>aaA	p.K1275K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1275	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGTCCTCTTTCTTATCTAAGT	0.383																																																	0													59	57	57					18																	18534772		2203	4300	6503	SO:0001819	synonymous_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3825G>A	18.37:g.18534772C>T			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.K1275	ENST00000399799.2	37	c.3825	CCDS11870.2	18																																																																																			ROCK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.383	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	C	NM_005406		18534772	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18534772	C	T	18534772	2	4	151	1	0	0	0	0	0	0	0	1	13547	912	32	1		1	ROCK1	18	18534772	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9276349	18534772	59542476	771	25404										
ABHD3	171586	genome.wustl.edu	37	chr18	19283676	19283676	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tggtcttgaaggaagcggctGaaactctcacccccggtcac	11	13	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:19283676G>A	ENST00000289119.2	-	2	334	c.195C>T	c.(193-195)ttC>ttT	p.F65F	ABHD3_ENST00000580981.1_Silent_p.F65F|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	65						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GGAAGCGGCTGAAACTCTCAC	0.542																																																	0													69	66	67					18																	19283676		2203	4300	6503	SO:0001819	synonymous_variant	171586			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.195C>T	18.37:g.19283676G>A			B0YIV0|B7Z5C2|O43411	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.F65	ENST00000289119.2	37	c.195	CCDS32802.1	18																																																																																			ABHD3	-	pirsf_AB-Hydro_YheT		0.542	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD3	HGNC	protein_coding	OTTHUMT00000444757.1	G			19283676	-1	no_errors	ENST00000289119	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19283676	G	A	19283676	2	1	151	1	0	0	0	0	0	0	0	1	83	1281	45	1		1	ABHD3	18	19283676	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	748904	19283676	58793572	772	25405										
RNF125	54941	genome.wustl.edu	37	chr18	29617208	29617208	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agaatgaaatcagagtataaGaactgcgctgagtgtgacac	11	6	1	6			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:29617208G>C	ENST00000217740.3	+	2	786	c.294G>C	c.(292-294)aaG>aaC	p.K98N	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	98					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CAGAGTATAAGAACTGCGCTG	0.443																																																	0													181	167	172					18																	29617208		2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.294G>C	18.37:g.29617208G>C	ENSP00000217740:p.Lys98Asn		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K98N	ENST00000217740.3	37	c.294	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926630	0.34002	.	.	ENSG00000101695	ENST00000217740	D	0.83419	-1.72	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);	0.357980	0.24185	N	0.040770	T	0.65439	0.2691	N	0.08118	0	0.27618	N	0.948434	B	0.14805	0.011	B	0.14023	0.01	T	0.51880	-0.8649	10	0.17832	T	0.49	-1.3475	10.7369	0.46130	0.0865:0.0:0.9135:0.0	.	98	Q96EQ8	RN125_HUMAN	N	98	ENSP00000217740:K98N	ENSP00000217740:K98N	K	+	3	2	RNF125	27871206	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	3.662000	0.54510	2.668000	0.90789	0.655000	0.94253	AAG	RNF125	-	NULL		0.443	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29617208	1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29617208	G	C	29617208	3	2	151	1	0	0	0	0	1	0	0	0	13464	933	33	1	300	1	RNF125	18	29617208	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10333532	29617208	48460040	773	25406										
C18orf25	147339	genome.wustl.edu	37	chr18	43796150	43796150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttccccttcctctagtggtCacctggctgattcagatacg	8	13	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:43796150C>T	ENST00000282059.6	+	2	678	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	C18orf25_ENST00000321319.6_Missense_Mutation_p.H102Y	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	102										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CTCTAGTGGTCACCTGGCTGA	0.517																																																	0													136	136	136					18																	43796150		1973	4152	6125	SO:0001583	missense	147339			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.304C>T	18.37:g.43796150C>T	ENSP00000282059:p.His102Tyr		A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	NULL	p.H102Y	ENST00000282059.6	37	c.304	CCDS42430.1	18	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030581	0.75504	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.75484	0.979;0.986	T	0.78919	-0.2014	9	0.87932	D	0	-7.6719	20.3967	0.98985	0.0:1.0:0.0:0.0	.	102;102	Q96B23-2;Q96B23	.;CR025_HUMAN	Y	102	.	ENSP00000282059:H102Y	H	+	1	0	C18orf25	42050148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.438000	0.80431	2.829000	0.97493	0.655000	0.94253	CAC	C18orf25	-	NULL		0.517	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf25	HGNC	protein_coding	OTTHUMT00000445242.1	C	NM_145055		43796150	1	no_errors	ENST00000282059	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	43796150	C	T	43796150	3	4	151	1	0	0	0	0	1	0	0	0	1904	826	29	1	306	1	C18orf25	18	43796150	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	14178942	43796150	34281098	774	25407										
LIPG	9388	genome.wustl.edu	37	chr18	47093845	47093845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgaaaactggctgcacaaaCtcgtgtcagccctgcacaca	8	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:47093845C>G	ENST00000261292.4	+	3	591	c.313C>G	c.(313-315)Ctc>Gtc	p.L105V	LIPG_ENST00000577628.1_Missense_Mutation_p.L141V|LIPG_ENST00000580036.1_Missense_Mutation_p.L105V|LIPG_ENST00000427224.2_Missense_Mutation_p.L105V	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	105					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCTGCACAAACTCGTGTCAGC	0.448																																					Pancreas(126;280 1778 12814 26243 34948)												0													80	69	73					18																	47093845		2203	4300	6503	SO:0001583	missense	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.313C>G	18.37:g.47093845C>G	ENSP00000261292:p.Leu105Val		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep	p.L105V	ENST00000261292.4	37	c.313	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994377	0.54041	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91843	-2.92;-2.92	5.13	5.13	0.70059	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	L	0.55990	1.75	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.93749	0.7057	10	0.87932	D	0	-21.6868	9.0858	0.36581	0.0:0.831:0.0:0.169	.	105;105;105	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	V	105	ENSP00000261292:L105V;ENSP00000387978:L105V	ENSP00000261292:L105V	L	+	1	0	LIPG	45347843	1.000000	0.71417	0.990000	0.47175	0.287000	0.27160	2.178000	0.42519	2.396000	0.81511	0.561000	0.74099	CTC	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase		0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	C	NM_006033		47093845	1	no_errors	ENST00000261292	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47093845	C	G	47093845	3	3	151	1	0	0	0	0	1	0	0	0	8844	565	20	4	323	4	LIPG	18	47093845	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3297695	47093845	30983403	775	25408										
SBNO2	22904	genome.wustl.edu	37	chr19	1111509	1111509	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caccagcccagcttaccccgGaagaaggtggggacccctcc	11	17	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:1111509G>C	ENST00000361757.3	-	24	3042	c.2805C>G	c.(2803-2805)ttC>ttG	p.F935L	SBNO2_ENST00000587024.1_Missense_Mutation_p.F925L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F878L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	935					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTACCCCGGAAGAAGGTGG	0.657																																																	0													20	23	22					19																	1111509		1864	4078	5942	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2805C>G	19.37:g.1111509G>C	ENSP00000354733:p.Phe935Leu		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.F935L	ENST00000361757.3	37	c.2805	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921868	0.33908	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.32	2.04	0.26737	.	0.266663	0.36893	N	0.002341	T	0.64023	0.2561	M	0.73372	2.23	0.34088	D	0.660331	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.68273	-0.5452	9	0.30078	T	0.28	-32.382	6.734	0.23399	0.3459:0.0:0.6541:0.0	.	935;878	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	935;878;942	.	ENSP00000250872:F942L	F	-	3	2	SBNO2	1062509	1.000000	0.71417	0.995000	0.50966	0.119000	0.20118	1.906000	0.39887	0.997000	0.38969	0.442000	0.29010	TTC	SBNO2	-	NULL		0.657	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	G	NM_014963		1111509	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1111509	G	C	1111509	3	2	151	1	0	0	0	0	1	0	0	0	13893	1165	41	1	1331	1	SBNO2	19	1111509	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		1111509	58017474	776	25409										
LMNB2	84823	genome.wustl.edu	37	chr19	2434313	2434313	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctctcctcctcgccctccagGagcttccggtaggcgttgat	10	16	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:2434313G>A	ENST00000582871.1	-	7	1208	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.L394L	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	374	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCTCCAGGAGCTTCCGGT	0.682																																																	0													52	40	44					19																	2434313		2203	4299	6502	SO:0001819	synonymous_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1122C>T	19.37:g.2434313G>A			O75292|Q14734|Q96DF6	Silent	SNP	pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.L394	ENST00000582871.1	37	c.1182		19																																																																																			LMNB2	-	pfam_F		0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		G	NM_032737		2434313	-1	no_errors	ENST00000325327	ensembl	human	known	70_37	silent	SNP	0.876	A	A	2434313	G	A	2434313	2	1	151	1	0	0	0	0	0	0	0	1	8871	1161	41	1		1	LMNB2	19	2434313	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1322804	2434313	56694670	777	25410										
TLE6	79816	genome.wustl.edu	37	chr19	2987353	2987353	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctccgttgtcatggtgacaGagcaggcaccaggcctggtg	14	11	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:2987353G>A	ENST00000246112.4	+	8	742		c.e8-1		TLE6_ENST00000452088.1_Splice_Site|TLE6_ENST00000478073.2_Splice_Site	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6						regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGTGACAGAGCAGGCACC	0.642																																																	0													92	84	86					19																	2987353		2203	4300	6503	SO:0001630	splice_region_variant	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.542-1G>A	19.37:g.2987353G>A			J3KMZ1	Splice_Site	SNP	-	e7-1	ENST00000246112.4	37	c.542-1	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894419	0.17613	.	.	ENSG00000104953	ENST00000246112;ENST00000452088;ENST00000441927	.	.	.	2.37	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.35637	D	0.810679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3174	0.32108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLE6	2938353	0.259000	0.24043	0.215000	0.23724	0.219000	0.24729	2.409000	0.44583	1.635000	0.50512	0.555000	0.69702	.	TLE6	-	-		0.642	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	G	NM_024760	Intron	2987353	1	no_errors	ENST00000246112	ensembl	human	known	70_37	splice_site	SNP	0.122	A	A	2987353	G	A	2987353	5	1	151	1	0	0	0	0	0	0	1	0	15972	956	33	1	567	1	TLE6	19	2987353	Splice_Site	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	553040	2987353	56141630	778	25411										
TLE2	7089	genome.wustl.edu	37	chr19	3025051	3025051	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaggggataatctgagcgcaGataccgctcagacgcttcac	11	11	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:3025051G>C	ENST00000262953.6	-	5	523	c.261C>G	c.(259-261)atC>atG	p.I87M	TLE2_ENST00000586422.1_Missense_Mutation_p.I32M|TLE2_ENST00000455444.2_Missense_Mutation_p.I32M|TLE2_ENST00000590536.1_Missense_Mutation_p.I87M|TLE2_ENST00000447365.2_De_novo_Start_OutOfFrame|TLE2_ENST00000591529.1_Missense_Mutation_p.I100M|TLE2_ENST00000443826.3_Missense_Mutation_p.I32M|TLE2_ENST00000426948.2_Missense_Mutation_p.I100M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	87	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGAGCGCAGATACCGCTCA	0.622																																																	0													38	37	37					19																	3025051		1859	4099	5958	SO:0001583	missense	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.261C>G	19.37:g.3025051G>C	ENSP00000262953:p.Ile87Met		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.I87M	ENST00000262953.6	37	c.261	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	g	17.70	3.453535	0.63290	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T	0.69175	-0.35;-0.38;-0.38;-0.18	4.44	3.4	0.38934	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.94021	3.485	0.30875	N	0.732103	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.996;0.994;0.996;0.998	T	0.82868	-0.0244	10	0.87932	D	0	0.2222	8.3113	0.32073	0.1111:0.0:0.8889:0.0	.	87;32;100;32;87	B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	M	87;32;80;32;100;87	ENSP00000262953:I87M;ENSP00000413107:I32M;ENSP00000392427:I32M;ENSP00000392869:I100M	ENSP00000262953:I87M	I	-	3	3	TLE2	2976051	1.000000	0.71417	0.993000	0.49108	0.752000	0.42762	3.362000	0.52314	1.003000	0.39130	0.556000	0.70494	ATC	TLE2	-	pfam_Groucho/TLE_N		0.622	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	G	NM_003260		3025051	-1	no_errors	ENST00000262953	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3025051	G	C	3025051	3	2	151	1	0	0	0	0	1	0	0	0	15969	932	33	1	2037	1	TLE2	19	3025051	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	37698	3025051	56103932	779	25412										
TBXA2R	6915	genome.wustl.edu	37	chr19	3600354	3600354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggtccacggcgtgccactcGaagagcgcggcgtgctggga	18	12	0	1	rs199738245		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:3600354G>A	ENST00000375190.4	-	2	672	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TBXA2R_ENST00000589966.1_Silent_p.F93F|TBXA2R_ENST00000411851.3_Silent_p.F93F|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	93					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGTGCCACTCGAAGAGCGCGG	0.672																																																	0													36	48	44					19																	3600354		2164	4244	6408	SO:0001819	synonymous_variant	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.279C>T	19.37:g.3600354G>A			O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.F93	ENST00000375190.4	37	c.279	CCDS42467.1	19																																																																																			TBXA2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.672	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	G			3600354	-1	no_errors	ENST00000411851	ensembl	human	known	70_37	silent	SNP	0.313	A	A	3600354	G	A	3600354	2	1	151	1	0	0	0	0	0	0	0	1	15693	1049	37	1		1	TBXA2R	19	3600354	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	575303	3600354	55528629	780	25413										
SHD	56961	genome.wustl.edu	37	chr19	4283076	4283076	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccggcagaggggtgcagctCtatgacaccccttatgagga	13	12	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:4283076C>G	ENST00000543264.2	+	3	1892	c.429C>G	c.(427-429)ctC>ctG	p.L143L	SHD_ENST00000599689.1_Silent_p.L143L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	143										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCAGCTCTATGACACCC	0.617																																																	0													47	47	47					19																	4283076		2203	4300	6503	SO:0001819	synonymous_variant	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.429C>G	19.37:g.4283076C>G			Q96NC2	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.L143	ENST00000543264.2	37	c.429	CCDS12125.1	19																																																																																			SHD	-	NULL		0.617	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SHD	HGNC	protein_coding	OTTHUMT00000458082.1	C	NM_020209		4283076	1	no_errors	ENST00000543264	ensembl	human	known	70_37	silent	SNP	0.887	G	G	4283076	C	G	4283076	2	3	151	1	0	0	0	0	0	0	0	1	14305	900	32	1		1	SHD	19	4283076	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	682722	4283076	54845907	781	25414										
C3	718	genome.wustl.edu	37	chr19	6694617	6694617	+	Missense_Mutation	SNP	A	A	C													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agccgttccgcgtcgacggcAtcctctgtcatctgggccac					rs199690614		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:6694617A>C	ENST00000245907.6	-	24	3071	c.2979T>G	c.(2977-2979)gaT>gaG	p.D993E		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	993					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTCGACGGCATCCTCTGTCA	0.622																																																	0													51	44	47					19																	6694617		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2979T>G	19.37:g.6694617A>C	ENSP00000245907:p.Asp993Glu		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.D993E	ENST00000245907.6	37	c.2979	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	A	5.726	0.318461	0.10845	.	.	ENSG00000125730	ENST00000245907	T	0.34275	1.37	5.77	-11.5	0.00074	.	0.467955	0.23872	N	0.043721	T	0.20455	0.0492	M	0.66506	2.035	0.09310	N	0.999996	B	0.06786	0.001	B	0.12837	0.008	T	0.34675	-0.9819	10	0.10636	T	0.68	.	5.8294	0.18572	0.5657:0.0721:0.2177:0.1446	.	993	P01024	CO3_HUMAN	E	993	ENSP00000245907:D993E	ENSP00000245907:D993E	D	-	3	2	C3	6645617	0.000000	0.05858	0.176000	0.23000	0.197000	0.23852	-3.066000	0.00621	-2.395000	0.00582	-0.912000	0.02778	GAT	C3	-	NULL		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	A	NM_000064		6694617	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.008	C	C	6694617	A	C	6694617	3	2	151	1	0	0	0	0	1	0	0	0	2209	214	8	5	2084	5	C3	19	6694617	Missense_Mutation	SNP	A	TCGA-IR-A3LH-01A-21D-A20U-09	2411541	6694617	52434366	782	25415	149	2								
C3	718	genome.wustl.edu	37	chr19	6694622	6694622	+	Missense_Mutation	SNP	C	C	G													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttccgcgtcgacggcatcctCtgtcatctgggccactgggg							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:6694622C>G	ENST00000245907.6	-	24	3066	c.2974G>C	c.(2974-2976)Gag>Cag	p.E992Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	992					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGGCATCCTCTGTCATCTGG	0.632																																																	0													48	42	44					19																	6694622		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2974G>C	19.37:g.6694622C>G	ENSP00000245907:p.Glu992Gln		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E992Q	ENST00000245907.6	37	c.2974	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162009	0.78226	.	.	ENSG00000125730	ENST00000245907	T	0.33865	1.39	5.77	5.77	0.91146	.	0.306476	0.35349	N	0.003272	T	0.66066	0.2752	M	0.88775	2.98	0.50313	D	0.999863	D	0.76494	0.999	D	0.79784	0.993	T	0.64334	-0.6432	10	0.22109	T	0.4	.	18.7735	0.91901	0.0:1.0:0.0:0.0	.	992	P01024	CO3_HUMAN	Q	992	ENSP00000245907:E992Q	ENSP00000245907:E992Q	E	-	1	0	C3	6645622	1.000000	0.71417	0.960000	0.40013	0.371000	0.29859	7.006000	0.76329	2.733000	0.93635	0.655000	0.94253	GAG	C3	-	NULL		0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6694622	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6694622	C	G	6694622	3	3	151	1	0	0	0	0	1	0	0	0	2209	922	32	1	2089	1	C3	19	6694622	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5	6694622	52434361	783	25416	149	2								
ZNF358	140467	genome.wustl.edu	37	chr19	7584332	7584332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagatctggagcccgtctcGgaggatctggaccccgacgc	14	13	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:7584332G>A	ENST00000597229.1	+	2	374	c.204G>A	c.(202-204)tcG>tcA	p.S68S	CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.S68S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	68					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCGTCTCGGAGGATCTGG	0.602																																																	0													53	59	57					19																	7584332		2203	4300	6503	SO:0001819	synonymous_variant	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.204G>A	19.37:g.7584332G>A			Q9BTM7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S68	ENST00000597229.1	37	c.204	CCDS32890.2	19																																																																																			ZNF358	-	NULL		0.602	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	G			7584332	1	no_errors	ENST00000394341	ensembl	human	known	70_37	silent	SNP	0.000	A	A	7584332	G	A	7584332	2	1	151	1	0	0	0	0	0	0	0	1	17897	1103	39	2		2	ZNF358	19	7584332	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	889710	7584332	51544651	784	25417										
MYO1F	4542	genome.wustl.edu	37	chr19	8616752	8616752	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgctcctgggaggccccttCcagcagctggagggtgtgcc	15	13	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:8616752C>A	ENST00000338257.8	-	8	910	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	215	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAGGCCCCTTCCAGCAGCTGG	0.597																																																	0													119	126	123					19																	8616752		2111	4219	6330	SO:0001587	stop_gained	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.643G>T	19.37:g.8616752C>A	ENSP00000344871:p.Glu215*		Q8WWN7	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.E215*	ENST00000338257.8	37	c.643	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.753695	0.96890	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4299	0.55569	0.0:0.8302:0.1698:0.0	.	.	.	.	X	260;215	.	ENSP00000304899:E260X	E	-	1	0	MYO1F	8522752	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	4.556000	0.60775	1.958000	0.56883	0.460000	0.39030	GAA	MYO1F	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.597	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	C			8616752	-1	no_errors	ENST00000338257	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	8616752	C	A	8616752	4	1	151	1	0	0	0	0	0	1	0	0	10096	864	30	3	2737	3	MYO1F	19	8616752	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1032420	8616752	50512231	785	25418										
MUC16	94025	genome.wustl.edu	37	chr19	9076110	9076110	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacttgtaatgtgccctataGagaagggcaactgtgaggta	12	7	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:9076110G>A	ENST00000397910.4	-	3	11539	c.11336C>T	c.(11335-11337)tCt>tTt	p.S3779F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3780	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCCTATAGAGAAGGGCAA	0.527																																																	0													151	147	148					19																	9076110		2049	4206	6255	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11336C>T	19.37:g.9076110G>A	ENSP00000381008:p.Ser3779Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S3779F	ENST00000397910.4	37	c.11336	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.294	-0.361836	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.93	0.801	0.18679	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.25140	0.058	T	0.40776	-0.9545	8	0.87932	D	0	.	4.0161	0.09644	0.246:0.0:0.754:0.0	.	3779	B5ME49	.	F	3779	ENSP00000381008:S3779F	ENSP00000381008:S3779F	S	-	2	0	MUC16	8937110	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.729000	0.26028	0.313000	0.23062	0.313000	0.20887	TCT	MUC16	-	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9076110	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	A	A	9076110	G	A	9076110	3	1	151	1	0	0	0	0	1	0	0	0	9996	942	33	1	32515	1	MUC16	19	9076110	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	459358	9076110	50052873	786	25419										
CCDC159	126075	genome.wustl.edu	37	chr19	11464470	11464470	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccttgtcttcttgcaggtCtgctgtgcacgtgctgcaga	11	12	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:11464470C>G	ENST00000588790.1	+	11	1139	c.692C>G	c.(691-693)tCt>tGt	p.S231C	DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.S231C			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	346										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TCTTGCAGGTCTGCTGTGCAC	0.602																																																	0													20	21	20					19																	11464470		1968	4152	6120	SO:0001583	missense	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.692C>G	19.37:g.11464470C>G	ENSP00000468232:p.Ser231Cys		B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	NULL	p.S231C	ENST00000588790.1	37	c.692	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716157	0.68844	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.51574	0.7	4.03	2.95	0.34219	.	.	.	.	.	T	0.59335	0.2186	L	0.53249	1.67	0.26777	N	0.969686	D;B	0.76494	0.999;0.019	D;B	0.65874	0.939;0.022	T	0.48387	-0.9040	9	0.72032	D	0.01	-6.0516	9.6032	0.39617	0.0:0.7868:0.2132:0.0	.	346;231	P0C7I6;P0C7I6-2	CC159_HUMAN;.	C	231;346	ENSP00000402239:S231C	ENSP00000390400:S346C	S	+	2	0	CCDC159	11325470	0.957000	0.32711	0.953000	0.39169	0.371000	0.29859	1.917000	0.39996	1.235000	0.43724	0.313000	0.20887	TCT	CCDC159	-	NULL		0.602	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	C	NM_001080503		11464470	1	no_errors	ENST00000458408	ensembl	human	known	70_37	missense	SNP	0.987	G	G	11464470	C	G	11464470	3	3	151	1	0	0	0	0	1	0	0	0	2796	913	32	1	726	1	CCDC159	19	11464470	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2388360	11464470	47664513	787	25420										
EPOR	2057	genome.wustl.edu	37	chr19	11491610	11491610	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agcagcaccaggatgaccacGaggatgagggagagcgtcag	16	9	1	3	rs574109825		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:11491610G>T	ENST00000222139.6	-	6	881	c.777C>A	c.(775-777)ctC>ctA	p.L259L	EPOR_ENST00000592375.2_Silent_p.L259L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	259					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GGATGACCACGAGGATGAGGG	0.682											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	43	50					19																	11491610		2081	4128	6209	SO:0001819	synonymous_variant	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.777C>A	19.37:g.11491610G>T		672	B2RCG4|Q15443|Q2M205	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3	p.L259	ENST00000222139.6	37	c.777	CCDS12260.1	19																																																																																			EPOR	-	pirsf_Erythropoietin_rcpt		0.682	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	G			11491610	-1	no_errors	ENST00000222139	ensembl	human	known	70_37	silent	SNP	0.831	T	T	11491610	G	T	11491610	2	4	151	1	0	0	0	0	0	0	0	1	5201	1045	37	3		3	EPOR	19	11491610	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	27140	11491610	47637373	788	25421										
EPOR	2057	genome.wustl.edu	37	chr19	11492424	11492424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtccacctcgtagcggatgtGagacgtcatgggtgtctcag	14	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:11492424G>A	ENST00000222139.6	-	4	633	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	EPOR_ENST00000592375.2_Missense_Mutation_p.H177Y	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	177	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TAGCGGATGTGAGACGTCATG	0.692											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	20	21					19																	11492424		2203	4296	6499	SO:0001583	missense	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.529C>T	19.37:g.11492424G>A	ENSP00000222139:p.His177Tyr	672	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3	p.H177Y	ENST00000222139.6	37	c.529	CCDS12260.1	19	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915284	0.33815	.	.	ENSG00000187266	ENST00000222139	T	0.55760	0.5	4.9	1.33	0.21861	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.392675	0.30036	N	0.010576	T	0.35566	0.0936	N	0.19112	0.55	0.09310	N	1	B	0.33777	0.425	P	0.46510	0.519	T	0.38478	-0.9659	10	0.06099	T	0.92	-31.0275	3.0413	0.06139	0.0995:0.1783:0.5381:0.1841	.	177	P19235	EPOR_HUMAN	Y	177	ENSP00000222139:H177Y	ENSP00000222139:H177Y	H	-	1	0	EPOR	11353424	0.929000	0.31497	0.021000	0.16686	0.183000	0.23260	2.003000	0.40844	1.045000	0.40225	0.305000	0.20034	CAC	EPOR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3		0.692	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	G			11492424	-1	no_errors	ENST00000222139	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11492424	G	A	11492424	3	1	151	1	0	0	0	0	1	0	0	0	5201	1290	45	1	1017	1	EPOR	19	11492424	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	814	11492424	47636559	789	25422										
ZNF563	147837	genome.wustl.edu	37	chr19	12432090	12432090	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgtgagtgcaaattaccttaGatttctcctaggatttttgt	8	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12432090G>A	ENST00000293725.5	-	3	392	c.187C>T	c.(187-189)Cta>Tta	p.L63L	ZNF563_ENST00000595977.1_Silent_p.L63L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATTACCTTAGATTTCTCCTA	0.318																																					GBM(39;623 795 5132 29510 31476)												0													71	64	66					19																	12432090		2200	4298	6498	SO:0001819	synonymous_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.187C>T	19.37:g.12432090G>A			B2R9E7|Q8NAT7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L63	ENST00000293725.5	37	c.187	CCDS12270.1	19																																																																																			ZNF563	-	pfscan_Krueppel-associated_box		0.318	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	G	NM_145276		12432090	-1	no_errors	ENST00000293725	ensembl	human	known	70_37	silent	SNP	0.558	A	A	12432090	G	A	12432090	2	1	151	1	0	0	0	0	0	0	0	1	18024	933	33	1		1	ZNF563	19	12432090	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	939666	12432090	46696893	790	25423										
DHPS	1725	genome.wustl.edu	37	chr19	12792434	12792434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcttggaagccggtggtgccGaaggcctccagcagtgcgcg	17	12	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12792434G>C	ENST00000210060.7	-	1	282	c.147C>G	c.(145-147)ttC>ttG	p.F49L	DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000594424.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																																	0													59	60	60					19																	12792434		2203	4300	6503	SO:0001583	missense	1725			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>G	19.37:g.12792434G>C	ENSP00000210060:p.Phe49Leu		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.F49L	ENST00000210060.7	37	c.147	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163283	0.38217	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	G	NM_001930		12792434	-1	no_errors	ENST00000210060	ensembl	human	known	70_37	missense	SNP	0.838	C	C	12792434	G	C	12792434	3	2	151	1	0	0	0	0	1	0	0	0	4495	1049	37	1	998	1	DHPS	19	12792434	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	360344	12792434	46336549	791	25424										
MAST1	22983	genome.wustl.edu	37	chr19	12958772	12958772	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcatccaccaccagatcatCgagctggcccgggactgcct	9	16	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12958772C>G	ENST00000251472.4	+	7	714	c.675C>G	c.(673-675)atC>atG	p.I225M	MAST1_ENST00000591495.1_Missense_Mutation_p.I221M	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCAGATCATCGAGCTGGCCC	0.592																																																	0													61	47	52					19																	12958772		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.675C>G	19.37:g.12958772C>G	ENSP00000251472:p.Ile225Met			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.I225M	ENST00000251472.4	37	c.675	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614949	0.66672	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.34275	1.37	5.02	1.42	0.22433	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.363360	0.28504	N	0.015115	T	0.35480	0.0933	L	0.61387	1.9	0.31488	N	0.666311	B;B	0.29886	0.26;0.148	B;B	0.39876	0.312;0.161	T	0.42932	-0.9422	10	0.66056	D	0.02	-7.9358	3.3129	0.07022	0.2933:0.4714:0.1438:0.0916	.	225;225	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	M	225	ENSP00000251472:I225M	ENSP00000251472:I225M	I	+	3	3	MAST1	12819772	0.063000	0.20901	1.000000	0.80357	0.995000	0.86356	-0.578000	0.05841	0.602000	0.29896	0.491000	0.48974	ATC	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	C	NM_014975		12958772	1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12958772	C	G	12958772	3	3	151	1	0	0	0	0	1	0	0	0	9347	874	31	1	701	1	MAST1	19	12958772	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	166338	12958772	46170211	792	25425										
RLN3	117579	genome.wustl.edu	37	chr19	14141637	14141637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaccccaggccttttacagGgggcgacccagctggcaagg	13	14	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:14141637G>T	ENST00000431365.2	+	2	363	c.306G>T	c.(304-306)agG>agT	p.R102S	CTB-55O6.4_ENST00000590528.1_RNA|IL27RA_ENST00000263379.2_5'Flank|RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	102						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						CCTTTTACAGGGGGCGACCCA	0.622																																																	0													45	49	48					19																	14141637		2203	4300	6503	SO:0001583	missense	117579			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.306G>T	19.37:g.14141637G>T	ENSP00000397415:p.Arg102Ser		Q6UXW5	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family	p.R102S	ENST00000431365.2	37	c.306	CCDS12302.1	19	.	.	.	.	.	.	.	.	.	.	G	5.202	0.222891	0.09863	.	.	ENSG00000171136	ENST00000431365	D	0.87650	-2.28	4.96	-6.37	0.01963	Insulin-like (3);	0.817793	0.11446	N	0.563281	T	0.71434	0.3339	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60084	-0.7332	10	0.09084	T	0.74	-7.5761	2.78	0.05358	0.2084:0.3251:0.3557:0.1108	.	102	Q8WXF3	REL3_HUMAN	S	102	ENSP00000397415:R102S	ENSP00000397415:R102S	R	+	3	2	RLN3	14002637	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.918000	0.01574	-0.838000	0.04218	0.491000	0.48974	AGG	RLN3	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.622	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN3	HGNC	protein_coding	OTTHUMT00000458529.1	G			14141637	1	no_errors	ENST00000431365	ensembl	human	known	70_37	missense	SNP	0.000	T	T	14141637	G	T	14141637	3	4	151	1	0	0	0	0	1	0	0	0	13423	1223	43	4	312	4	RLN3	19	14141637	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1182865	14141637	44987346	793	25426										
IL27RA	9466	genome.wustl.edu	37	chr19	14160003	14160003	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caacgctttggcgactccaaGatgcccctccagggaccccc	9	18	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:14160003G>A	ENST00000263379.2	+	10	1404	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	427	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCGACTCCAAGATGCCCCTCC	0.647											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)												0													45	47	47					19																	14160003		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1279G>A	19.37:g.14160003G>A	ENSP00000263379:p.Asp427Asn	693	A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D427N	ENST00000263379.2	37	c.1279	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901910	0.33535	.	.	ENSG00000104998	ENST00000263379	T	0.52983	0.64	4.38	3.31	0.37934	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000481	T	0.26340	0.0643	L	0.29908	0.895	0.32558	N	0.531441	P	0.37330	0.59	B	0.30251	0.113	T	0.23619	-1.0183	10	0.12430	T	0.62	-25.4419	8.4493	0.32860	0.111:0.0:0.889:0.0	.	427	Q6UWB1	I27RA_HUMAN	N	427	ENSP00000263379:D427N	ENSP00000263379:D427N	D	+	1	0	IL27RA	14021003	0.987000	0.35691	0.923000	0.36655	0.584000	0.36387	2.134000	0.42102	2.270000	0.75569	0.448000	0.29417	GAT	IL27RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	G	NM_004843		14160003	1	no_errors	ENST00000263379	ensembl	human	known	70_37	missense	SNP	0.673	A	A	14160003	G	A	14160003	3	1	151	1	0	0	0	0	1	0	0	0	7701	942	33	1	1317	1	IL27RA	19	14160003	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	18366	14160003	44968980	794	25427										
LPHN1	22859	genome.wustl.edu	37	chr19	14266174	14266174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccccgcctcgacctcaccttCttctgtaaggcgcagtgaaa	8	16	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:14266174C>T	ENST00000340736.6	-	19	3603	c.3306G>A	c.(3304-3306)aaG>aaA	p.K1102K	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.K1097K|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1102					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCACCTTCTTCTGTAAGG	0.592																																																	0													141	135	137					19																	14266174		2203	4300	6503	SO:0001819	synonymous_variant	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3306G>A	19.37:g.14266174C>T			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.K1102	ENST00000340736.6	37	c.3306	CCDS32928.1	19																																																																																			LPHN1	-	prints_GPCR_2_latrophilin		0.592	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14266174	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14266174	C	T	14266174	2	4	151	1	0	0	0	0	0	0	0	1	8938	912	32	1		1	LPHN1	19	14266174	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	106171	14266174	44862809	795	25428										
SLC1A6	6511	genome.wustl.edu	37	chr19	15067377	15067377	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgagtgacgaggaagtagatGaggggaaggacaatgccggc	18	5	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:15067377G>T	ENST00000221742.3	-	6	1087	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	SLC1A6_ENST00000430939.2_Silent_p.L296L|SLC1A6_ENST00000600144.1_Intron	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	360					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGAAGTAGATGAGGGGAAGGA	0.597																																																	0													184	145	158					19																	15067377		2203	4300	6503	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1080C>A	19.37:g.15067377G>T			Q8N753	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L360	ENST00000221742.3	37	c.1080	CCDS12321.1	19																																																																																			SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.597	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	G	NM_005071		15067377	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	silent	SNP	0.999	T	T	15067377	G	T	15067377	2	4	151	1	0	0	0	0	0	0	0	1	14466	1277	45	3		3	SLC1A6	19	15067377	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	801203	15067377	44061606	796	25429										
RAB8A	4218	genome.wustl.edu	37	chr19	16222825	16222825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccttcaactccacttttatCtccaccataggtaacgggac	6	14	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:16222825C>G	ENST00000300935.3	+	1	387	c.114C>G	c.(112-114)atC>atG	p.I38M	RAB8A_ENST00000586682.1_Missense_Mutation_p.I38M|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	38					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CCACTTTTATCTCCACCATAG	0.647																																																	0													120	123	122					19																	16222825		2203	4300	6503	SO:0001583	missense	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.114C>G	19.37:g.16222825C>G	ENSP00000300935:p.Ile38Met		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I38M	ENST00000300935.3	37	c.114	CCDS12339.1	19	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925852	0.73213	.	.	ENSG00000167461	ENST00000300935	T	0.77750	-1.12	4.54	3.51	0.40186	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	N	0.21142	0.635	0.58432	D	0.999999	D;P;D	0.63880	0.979;0.831;0.993	D;P;D	0.71656	0.925;0.658;0.974	T	0.77086	-0.2718	10	0.87932	D	0	.	7.548	0.27778	0.1674:0.7435:0.0:0.0891	.	38;38;33	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	M	38	ENSP00000300935:I38M	ENSP00000300935:I38M	I	+	3	3	RAB8A	16083825	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.184000	0.42575	2.516000	0.84829	0.491000	0.48974	ATC	RAB8A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.647	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	HGNC	protein_coding	OTTHUMT00000460186.1	C	NM_005370		16222825	1	no_errors	ENST00000300935	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16222825	C	G	16222825	3	3	151	1	0	0	0	0	1	0	0	0	12986	903	32	1	116	1	RAB8A	19	16222825	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1155448	16222825	42906158	797	25430										
NWD1	284434	genome.wustl.edu	37	chr19	16860666	16860666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggctgcccttgccccctgccCaggttctggacgcccacacc	10	20	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:16860666C>T	ENST00000552788.1	+	4	1213	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	NWD1_ENST00000339803.6_Nonsense_Mutation_p.Q270*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.Q405*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.Q199*|NWD1_ENST00000524140.2_Nonsense_Mutation_p.Q405*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.Q405*			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	405	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCCTGCCCAGGTTCTGGA	0.602																																																	0													47	49	48					19																	16860666		2203	4299	6502	SO:0001587	stop_gained	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1213C>T	19.37:g.16860666C>T	ENSP00000447224:p.Gln405*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q405*	ENST00000552788.1	37	c.1213		19	.	.	.	.	.	.	.	.	.	.	c	16.86	3.238788	0.58995	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.53	4.53	0.55603	.	0.400397	0.24925	N	0.034516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-18.3681	15.0828	0.72127	0.0:1.0:0.0:0.0	.	.	.	.	X	270;405;405;405;199;405;270	.	ENSP00000340159:Q270X	Q	+	1	0	NWD1	16721666	0.994000	0.37717	0.829000	0.32907	0.038000	0.13279	3.263000	0.51546	2.231000	0.72958	0.639000	0.83563	CAG	NWD1	-	NULL		0.602	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	C	NM_001007525		16860666	1	no_errors	ENST00000379808	ensembl	human	known	70_37	nonsense	SNP	0.617	T	T	16860666	C	T	16860666	4	4	151	1	0	0	0	0	0	1	0	0	10805	595	21	4	814	4	NWD1	19	16860666	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	637841	16860666	42268317	798	25431										
CPAMD8	27151	genome.wustl.edu	37	chr19	17088210	17088210	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaaggtctcgactgcaaactGaaggctgtcggcgacccctt	12	12	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:17088210G>A	ENST00000443236.1	-	15	1898	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	576						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACTGCAAACTGAAGGCTGTCG	0.602																																																	0													84	87	86					19																	17088210		1973	4156	6129	SO:0001587	stop_gained	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1867C>T	19.37:g.17088210G>A	ENSP00000402505:p.Gln623*		Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.Q623*	ENST00000443236.1	37	c.1867	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	g	36	5.931366	0.97116	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.62	2.62	0.31277	.	0.188851	0.35291	U	0.003317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.4563	0.61201	0.0:0.0:1.0:0.0	.	.	.	.	X	623	.	ENSP00000291440:Q623X	Q	-	1	0	CPAMD8	16949210	1.000000	0.71417	0.865000	0.33974	0.504000	0.33889	7.860000	0.86993	1.177000	0.42855	0.586000	0.80456	CAG	CPAMD8	-	pfam_A2M_N_2		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	G	NM_015692		17088210	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	17088210	G	A	17088210	4	1	151	1	0	0	0	0	0	1	0	0	3800	1299	45	1	4043	1	CPAMD8	19	17088210	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	227544	17088210	42040773	799	25432										
JAK3	3718	genome.wustl.edu	37	chr19	17953301	17953301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catgagcgagtgccggtctgCctggcaggcggccacgcggc	17	14	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:17953301C>T	ENST00000527670.1	-	5	714	c.685G>A	c.(685-687)Gca>Aca	p.A229T	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.A229T|JAK3_ENST00000458235.1_Missense_Mutation_p.A229T			P52333	JAK3_HUMAN	Janus kinase 3	229	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGCCGGTCTGCCTGGCAGGCG	0.706		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													20	17	18					19																	17953301		2188	4283	6471	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.685G>A	19.37:g.17953301C>T	ENSP00000432511:p.Ala229Thr		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A229T	ENST00000527670.1	37	c.685	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151922	0.57151	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.58940	0.3;0.3;0.3	4.41	4.41	0.53225	Band 4.1 domain (1);FERM domain (1);	0.233904	0.34700	N	0.003760	T	0.47078	0.1426	L	0.51422	1.61	0.34425	D	0.697902	B;B;B	0.31548	0.328;0.2;0.222	B;B;B	0.28385	0.079;0.089;0.086	T	0.59500	-0.7443	10	0.39692	T	0.17	-11.5407	8.423	0.32712	0.0:0.8914:0.0:0.1086	.	229;229;229	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	T	229	ENSP00000391676:A229T;ENSP00000432511:A229T;ENSP00000436421:A229T	ENSP00000413248:A229T	A	-	1	0	JAK3	17814301	0.929000	0.31497	0.963000	0.40424	0.856000	0.48823	1.682000	0.37628	2.025000	0.59659	0.430000	0.28490	GCA	JAK3	-	superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.706	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	C	NM_000215		17953301	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	missense	SNP	0.983	T	T	17953301	C	T	17953301	3	4	151	1	0	0	0	0	1	0	0	0	7959	739	26	4	2765	4	JAK3	19	17953301	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	865091	17953301	41175682	800	25433										
KIAA1683	80726	genome.wustl.edu	37	chr19	18377934	18377934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggatgtgtctcttgttgaagCgccgccaggcctcctggatg	14	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18377934C>T	ENST00000600328.3	-	3	609	c.416G>A	c.(415-417)cGc>cAc	p.R139H	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R139H|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R93H			Q9H0B3	K1683_HUMAN	KIAA1683	139						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGTTGAAGCGCCGCCAGGC	0.597																																																	0													58	57	58					19																	18377934		2203	4300	6503	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.416G>A	19.37:g.18377934C>T	ENSP00000470780:p.Arg139His		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R139H	ENST00000600328.3	37	c.416	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361358	0.41801	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.73047	-0.71;-0.71;-0.71	3.53	2.44	0.29823	.	0.000000	0.34932	N	0.003576	T	0.71617	0.3361	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.912	T	0.58183	-0.7681	10	0.62326	D	0.03	-26.8838	6.9982	0.24795	0.0:0.8653:0.0:0.1347	.	139;139	E9PDE0;Q9H0B3	.;K1683_HUMAN	H	139;139;93;138;139	ENSP00000376213:R139H;ENSP00000352774:R139H;ENSP00000404501:R93H	ENSP00000351198:R138H	R	-	2	0	KIAA1683	18238934	0.521000	0.26258	0.971000	0.41717	0.076000	0.17211	0.600000	0.24104	1.821000	0.53095	0.313000	0.20887	CGC	KIAA1683	-	NULL		0.597	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	C			18377934	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	missense	SNP	0.145	T	T	18377934	C	T	18377934	3	4	151	1	0	0	0	0	1	0	0	0	8271	768	27	2	3695	2	KIAA1683	19	18377934	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	424633	18377934	40751049	801	25434										
LRRC25	126364	genome.wustl.edu	37	chr19	18507683	18507683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccgcgttccagtccacatCcgcggaggacacggtgcacg	12	16	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18507683C>T	ENST00000339007.3	-	1	744	c.91G>A	c.(91-93)Gat>Aat	p.D31N	LRRC25_ENST00000595840.1_Missense_Mutation_p.D31N	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	31						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CAGTCCACATCCGCGGAGGAC	0.627																																																	0													62	48	53					19																	18507683		2203	4300	6503	SO:0001583	missense	126364			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.91G>A	19.37:g.18507683C>T	ENSP00000340983:p.Asp31Asn		Q6IQ00|Q8N9A5	Missense_Mutation	SNP	NULL	p.D31N	ENST00000339007.3	37	c.91	CCDS12377.1	19	.	.	.	.	.	.	.	.	.	.	C	2.363	-0.346058	0.05208	.	.	ENSG00000175489	ENST00000339007	T	0.33438	1.41	3.68	-7.37	0.01412	.	3.056560	0.01060	N	0.004639	T	0.12135	0.0295	N	0.20685	0.6	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	0.234	0.4858	0.00555	0.2428:0.1422:0.2411:0.3739	.	31	Q8N386	LRC25_HUMAN	N	31	ENSP00000340983:D31N	ENSP00000340983:D31N	D	-	1	0	LRRC25	18368683	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.677000	0.01944	-1.679000	0.01452	0.491000	0.48974	GAT	LRRC25	-	NULL		0.627	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC25	HGNC	protein_coding	OTTHUMT00000466342.1	C	NM_145256		18507683	-1	no_errors	ENST00000339007	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18507683	C	T	18507683	3	4	151	1	0	0	0	0	1	0	0	0	9003	855	30	1	834	1	LRRC25	19	18507683	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	129749	18507683	40621300	802	25435										
ELL	8178	genome.wustl.edu	37	chr19	18557273	18557273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctggcgctgctccgaagagGagatggctgcgtacttcctg	14	11	1	2	rs543271718	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18557273G>A	ENST00000262809.4	-	10	1621	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	ELL_ENST00000596124.3_Missense_Mutation_p.S384F|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	517					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTCCGAAGAGGAGATGGCTGC	0.632			T	MLL	AL								g|||	4	0.000798722	0	0	5008	,	,		18838	0		0	False		,,,				2504	0.0041							Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													56	52	53					19																	18557273		2203	4299	6502	SO:0001583	missense	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1550C>T	19.37:g.18557273G>A	ENSP00000262809:p.Ser517Phe			Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S517F	ENST00000262809.4	37	c.1550	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472698	0.43942	.	.	ENSG00000105656	ENST00000262809	T	0.22743	1.94	4.62	2.44	0.29823	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.368724	0.28088	N	0.016650	T	0.30510	0.0767	L	0.55481	1.735	0.44702	D	0.997694	P;P	0.40731	0.599;0.728	B;P	0.52267	0.355;0.694	T	0.02326	-1.1176	10	0.56958	D	0.05	-35.1696	8.9436	0.35745	0.1866:0.0:0.8134:0.0	.	461;517	Q59HG4;P55199	.;ELL_HUMAN	F	517	ENSP00000262809:S517F	ENSP00000262809:S517F	S	-	2	0	ELL	18418273	1.000000	0.71417	0.197000	0.23402	0.669000	0.39330	1.690000	0.37711	0.518000	0.28383	0.543000	0.68304	TCC	ELL	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.632	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	G	NM_006532		18557273	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	missense	SNP	0.967	A	A	18557273	G	A	18557273	3	1	151	1	0	0	0	0	1	0	0	0	5074	1174	41	1	327	1	ELL	19	18557273	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	49590	18557273	40571710	803	25436										
UPF1	5976	genome.wustl.edu	37	chr19	18974274	18974274	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtcatcattgtgggcaacccGaaggcactatcaaagcagcc	10	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18974274G>A	ENST00000599848.1	+	19	2870	c.2661G>A	c.(2659-2661)ccG>ccA	p.P887P	UPF1_ENST00000262803.5_Silent_p.P876P			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	887					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCAACCCGAAGGCACTAT	0.597																																																	0													175	174	174					19																	18974274		2203	4300	6503	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2661G>A	19.37:g.18974274G>A			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.P887	ENST00000599848.1	37	c.2661		19																																																																																			UPF1	-	NULL		0.597	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	G	NM_002911		18974274	1	no_errors	ENST00000599848	ensembl	human	known	70_37	silent	SNP	0.170	A	A	18974274	G	A	18974274	2	1	151	1	0	0	0	0	0	0	0	1	17034	1045	37	1		1	UPF1	19	18974274	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	417001	18974274	40154709	804	25437										
COPE	11316	genome.wustl.edu	37	chr19	19030098	19030098	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tagaaggcgttctttacgtcGaacagctcgtctacctcccc	8	14	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:19030098G>A	ENST00000262812.4	-	1	108	c.60C>T	c.(58-60)ttC>ttT	p.F20F	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_5'Flank|COPE_ENST00000351079.4_Silent_p.F20F|DDX49_ENST00000247003.4_5'Flank|COPE_ENST00000349893.4_Silent_p.F20F|COPE_ENST00000600932.1_Silent_p.F20F	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	20					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TCTTTACGTCGAACAGCTCGT	0.672																																																	0													47	48	48					19																	19030098		2203	4300	6503	SO:0001819	synonymous_variant	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.60C>T	19.37:g.19030098G>A			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.F20	ENST00000262812.4	37	c.60	CCDS12387.1	19																																																																																			COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.672	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19030098	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19030098	G	A	19030098	2	1	151	1	0	0	0	0	0	0	0	1	3735	1049	37	1		1	COPE	19	19030098	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	55824	19030098	40098885	805	25438										
NCAN	1463	genome.wustl.edu	37	chr19	19327807	19327807	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgggccttttgatgctgcaGatgctgctctttgtggctgg	14	8	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:19327807G>C	ENST00000252575.6	+	2	144	c.45G>C	c.(43-45)caG>caC	p.Q15H		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	15					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGATGCTGCAGATGCTGCTCT	0.577																																																	0													143	145	144					19																	19327807		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.45G>C	19.37:g.19327807G>C	ENSP00000252575:p.Gln15His		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.Q15H	ENST00000252575.6	37	c.45	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	4.493	0.091451	0.08632	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.84146	-1.81	5.02	1.7	0.24286	.	0.766119	0.10733	N	0.640404	T	0.74809	0.3765	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.46975	0.533	T	0.62520	-0.6837	10	0.15499	T	0.54	.	6.6967	0.23203	0.2958:0.0:0.7042:0.0	.	15	O14594	NCAN_HUMAN	H	29;15	ENSP00000252575:Q15H	ENSP00000252575:Q15H	Q	+	3	2	NCAN	19188807	0.001000	0.12720	0.005000	0.12908	0.072000	0.16883	0.473000	0.22132	0.629000	0.30376	0.650000	0.86243	CAG	NCAN	-	NULL		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19327807	1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.012	C	C	19327807	G	C	19327807	3	2	151	1	0	0	0	0	1	0	0	0	10228	933	33	1	47	1	NCAN	19	19327807	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	297709	19327807	39801176	806	25439										
TM6SF2	53345	genome.wustl.edu	37	chr19	19379487	19379487	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cggggctggctgaagaccttCatgccagcccagcatggcac	13	14	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:19379487C>T	ENST00000389363.4	-	6	633	c.561G>A	c.(559-561)atG>atA	p.M187I	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	187						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TGAAGACCTTCATGCCAGCCC	0.607																																																	0													68	70	69					19																	19379487		1977	4152	6129	SO:0001583	missense	53345			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.561G>A	19.37:g.19379487C>T	ENSP00000374014:p.Met187Ile		Q0IJ64	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.M187I	ENST00000389363.4	37	c.561	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	C	5.553	0.286815	0.10513	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.26373	1.74	5.01	3.96	0.45880	.	1.467820	0.05062	U	0.480092	T	0.20820	0.0501	L	0.35414	1.06	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13575	-1.0504	10	0.19590	T	0.45	-0.0187	8.143	0.31095	0.0:0.8143:0.0:0.1857	.	187	Q9BZW4	TM6S2_HUMAN	I	187	ENSP00000374014:M187I	ENSP00000269990:M187I	M	-	3	0	TM6SF2	19240487	0.000000	0.05858	0.476000	0.27291	0.351000	0.29236	0.005000	0.13129	2.340000	0.79590	0.650000	0.86243	ATG	TM6SF2	-	NULL		0.607	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	C	NM_203510		19379487	-1	no_errors	ENST00000389363	ensembl	human	known	70_37	missense	SNP	0.013	T	T	19379487	C	T	19379487	3	4	151	1	0	0	0	0	1	0	0	0	16003	826	29	1	592	1	TM6SF2	19	19379487	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	51680	19379487	39749496	807	25440										
ZNF676	163223	genome.wustl.edu	37	chr19	22364025	22364025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacatttgtaggaattctctCtagtataaattctttcatgt	5	7	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:22364025C>G	ENST00000397121.2	-	3	811	c.494G>C	c.(493-495)aGa>aCa	p.R165T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGAATTCTCTCTAGTATAAAT	0.338																																																	0													63	63	63					19																	22364025		1976	4192	6168	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.494G>C	19.37:g.22364025C>G	ENSP00000380310:p.Arg165Thr		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R165T	ENST00000397121.2	37	c.494	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	6.179	0.401120	0.11696	.	.	ENSG00000196109	ENST00000397121	T	0.15256	2.44	1.03	-0.771	0.11002	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13157	0.0319	L	0.33668	1.02	0.23716	N	0.997038	B	0.13594	0.008	B	0.28553	0.091	T	0.36138	-0.9760	9	0.62326	D	0.03	.	6.2097	0.20621	0.0:0.7927:0.0:0.2073	.	165	Q8N7Q3	ZN676_HUMAN	T	165	ENSP00000380310:R165T	ENSP00000380310:R165T	R	-	2	0	ZNF676	22155865	0.973000	0.33851	0.002000	0.10522	0.051000	0.14879	3.467000	0.53078	-0.374000	0.07967	0.195000	0.17529	AGA	ZNF676	-	NULL		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	C	NM_001001411		22364025	-1	no_errors	ENST00000397121	ensembl	human	known	70_37	missense	SNP	0.936	G	G	22364025	C	G	22364025	3	3	151	1	0	0	0	0	1	0	0	0	18113	913	32	1	1276	1	ZNF676	19	22364025	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2984538	22364025	36764958	808	25441										
GRAMD1A	57655	genome.wustl.edu	37	chr19	35501052	35501052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agggccgcctctacctctctGagaactggatctgcttctac	9	14	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:35501052G>A	ENST00000317991.5	+	5	574	c.382G>A	c.(382-384)Gag>Aag	p.E128K	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E121K|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.E215K|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.E128K|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	128	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTACCTCTCTGAGAACTGGAT	0.662																																																	0													95	98	97					19																	35501052		1938	4137	6075	SO:0001583	missense	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.382G>A	19.37:g.35501052G>A	ENSP00000441032:p.Glu128Lys		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E128K	ENST00000317991.5	37	c.382	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.689916	0.96784	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87571	-2.27;-2.27	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.92870	0.7732	M	0.70595	2.14	0.80722	D	1	P;D;P;P	0.76494	0.676;0.999;0.917;0.672	P;D;P;B	0.83275	0.805;0.996;0.868;0.336	D	0.93115	0.6520	10	0.72032	D	0.01	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	128;128;121;215	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	K	215;128;121	ENSP00000441032:E128K;ENSP00000439267:E121K	ENSP00000441032:E128K	E	+	1	0	GRAMD1A	40192892	1.000000	0.71417	0.967000	0.41034	0.912000	0.54170	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	GAG	GRAMD1A	-	pfam_GRAM,smart_GRAM		0.662	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	G	NM_020895		35501052	1	no_errors	ENST00000317991	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35501052	G	A	35501052	3	1	151	1	0	0	0	0	1	0	0	0	6767	1291	45	1	400	1	GRAMD1A	19	35501052	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	13137027	35501052	23627931	809	25442										
ALKBH6	84964	genome.wustl.edu	37	chr19	36504311	36504311	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcctccatcaacaccaactCcttgcacccaatcctgtagg	4	18	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:36504311C>T	ENST00000252984.7	-	0	141				ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_5'UTR|ALKBH6_ENST00000486389.1_5'UTR|ALKBH6_ENST00000378875.3_Missense_Mutation_p.E25K|AC002116.7_ENST00000586962.1_RNA			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACACCAACTCCTTGCACCCA	0.592																																																	0													155	124	134					19																	36504311		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84964			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"Alkylation repair homologs"	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.-12G>A	19.37:g.36504311C>T			A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.E25K	ENST00000252984.7	37	c.73		19	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213529	0.39102	.	.	ENSG00000239382	ENST00000378875	.	.	.	3.52	1.28	0.21552	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.39918	D	0.974113	B;B	0.18741	0.03;0.013	B;B	0.21917	0.037;0.025	T	0.05338	-1.0891	8	0.27785	T	0.31	.	6.6548	0.22981	0.0:0.7085:0.1835:0.108	.	18;25	B4E3P3;Q3KRA9-2	.;.	K	25	.	ENSP00000368152:E25K	E	-	1	0	ALKBH6	41196151	0.149000	0.22717	0.089000	0.20774	0.574000	0.36063	1.364000	0.34171	0.433000	0.26313	0.585000	0.79938	GAG	ALKBH6	-	NULL		0.592	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	ALKBH6	HGNC	protein_coding	OTTHUMT00000109531.4	C	NM_032878		36504311	-1	no_errors	ENST00000378875	ensembl	human	known	70_37	missense	SNP	0.490	T	T	36504311	C	T	36504311	1	4	151	0	1	0	0	0	0	0	0	0	531	864	30	1		1	ALKBH6	19	36504311	5'UTR	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1003259	36504311	22624672	810	25443										
MAP4K1	11184	genome.wustl.edu	37	chr19	39086603	39086603	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catcaacaccatcaccatatCttcctctacctgggtcacct	3	17	5	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:39086603C>G	ENST00000591517.1	-	27	2183	c.2155G>C	c.(2155-2157)Gat>Cat	p.D719H	MAP4K1_ENST00000396857.2_Missense_Mutation_p.D719H|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D715H|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	719	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCACCATATCTTCCTCTACC	0.597																																																	0													176	191	186					19																	39086603		2033	4178	6211	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2155G>C	19.37:g.39086603C>G	ENSP00000465039:p.Asp719His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D719H	ENST00000591517.1	37	c.2155	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679386	0.68042	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.06218	3.33	4.88	4.88	0.63580	Citron-like (3);	0.134298	0.48767	D	0.000165	T	0.22627	0.0546	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00153	-1.1982	10	0.87932	D	0	.	9.0959	0.36638	0.0:0.9028:0.0:0.0972	.	719;719	Q92918-2;Q92918	.;M4K1_HUMAN	H	719	ENSP00000380066:D719H	ENSP00000221409:D719H	D	-	1	0	MAP4K1	43778443	0.994000	0.37717	1.000000	0.80357	0.950000	0.60333	2.686000	0.46968	2.557000	0.86248	0.555000	0.69702	GAT	MAP4K1	-	pfam_Citron,smart_Citron		0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	C	NM_001042600		39086603	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	missense	SNP	0.996	G	G	39086603	C	G	39086603	3	3	151	1	0	0	0	0	1	0	0	0	9282	913	32	1	432	1	MAP4K1	19	39086603	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2582292	39086603	20042380	811	25444										
CYP2F1	1572	genome.wustl.edu	37	chr19	41627918	41627918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctgggccgcaccaacgcatCttccagaacttcaagtgcct	8	16	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:41627918C>T	ENST00000331105.2	+	6	774	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	234					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACCAACGCATCTTCCAGAACT	0.602																																																	0													62	64	63					19																	41627918		2202	4299	6501	SO:0001819	synonymous_variant	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.702C>T	19.37:g.41627918C>T			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I234	ENST00000331105.2	37	c.702	CCDS12572.1	19																																																																																			CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	C			41627918	1	no_errors	ENST00000331105	ensembl	human	known	70_37	silent	SNP	0.195	T	T	41627918	C	T	41627918	2	4	151	1	0	0	0	0	0	0	0	1	4176	903	32	1		1	CYP2F1	19	41627918	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2541315	41627918	17501065	812	25445										
CYP2F1	1572	genome.wustl.edu	37	chr19	41627930	41627930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caacgcatcttccagaacttCaagtgcctgagagacctcat	7	13	3	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:41627930C>T	ENST00000331105.2	+	6	786	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	238					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TCCAGAACTTCAAGTGCCTGA	0.597																																																	0													55	55	55					19																	41627930		2202	4299	6501	SO:0001819	synonymous_variant	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.714C>T	19.37:g.41627930C>T			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F238	ENST00000331105.2	37	c.714	CCDS12572.1	19																																																																																			CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	C			41627930	1	no_errors	ENST00000331105	ensembl	human	known	70_37	silent	SNP	0.000	T	T	41627930	C	T	41627930	2	4	151	1	0	0	0	0	0	0	0	1	4176	825	29	1		1	CYP2F1	19	41627930	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	12	41627930	17501053	813	25446										
B3GNT8	593	genome.wustl.edu	37	chr19	41932015	41932015	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccagcagcagcaggtctttGagcgtctggttgaatgggac	15	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:41932015G>C	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.L223L|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCAGGTCTTTGAGCGTCTGGT	0.627																																																	0													56	58	57					19																	41932015		2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932015G>C			B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	pfam_Glyco_trans_31	p.L223	ENST00000269980.2	37	c.669	CCDS12581.1	19																																																																																			B3GNT8	-	pfam_Glyco_trans_31		0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT8	HGNC	protein_coding	OTTHUMT00000398313.3	G	NM_000709		41932015	-1	no_errors	ENST00000321702	ensembl	human	known	70_37	silent	SNP	0.996	C	C	41932015	G	C	41932015	1	2	151	0	1	0	0	0	0	0	0	0	1264	1277	45	1		1	B3GNT8	19	41932015	IGR	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	304085	41932015	17196968	814	25447										
ZNF574	64763	genome.wustl.edu	37	chr19	42584616	42584616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccgctccttcttgctgcgtCggctgctggaggtgcaccag	13	15	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42584616C>T	ENST00000600245.1	+	2	2513	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R620W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R710W			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTTGCTGCGTCGGCTGCTGGA	0.662																																																	0													62	58	59					19																	42584616		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1858C>T	19.37:g.42584616C>T	ENSP00000469029:p.Arg620Trp		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R710W	ENST00000600245.1	37	c.2128	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550397	0.45383	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.15487	2.42;2.42	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144113	0.41938	D	0.000792	T	0.14527	0.0351	L	0.41027	1.25	0.41841	D	0.990127	B;B	0.32203	0.024;0.36	B;B	0.24006	0.005;0.05	T	0.02805	-1.1108	10	0.59425	D	0.04	-20.2404	13.0162	0.58759	0.1615:0.8384:0.0:0.0	.	620;709	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	710;620;227	ENSP00000222339:R710W;ENSP00000351939:R620W	ENSP00000222339:R710W	R	+	1	2	ZNF574	47276456	0.000000	0.05858	1.000000	0.80357	0.338000	0.28826	-0.225000	0.09151	2.534000	0.85438	0.650000	0.86243	CGG	ZNF574	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	C	NM_022752		42584616	1	no_errors	ENST00000222339	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42584616	C	T	42584616	3	4	151	1	0	0	0	0	1	0	0	0	18036	875	31	1	1860	1	ZNF574	19	42584616	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	652601	42584616	16544367	815	25448										
CIC	23152	genome.wustl.edu	37	chr19	42797347	42797347	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagcccctccacccctgccaGagacctggactcccacggcc	8	22	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42797347G>A	ENST00000575354.2	+	15	3749	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	CIC_ENST00000572681.2_Missense_Mutation_p.E2144K|CIC_ENST00000160740.3_Missense_Mutation_p.E1235K	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1237	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCTGCCAGAGACCTGGAC	0.711			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													9	11	10					19																	42797347		2164	4264	6428	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3709G>A	19.37:g.42797347G>A	ENSP00000458663:p.Glu1237Lys		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E1237K	ENST00000575354.2	37	c.3709	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563286	0.27915	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	T	0.23133	0.0559	N	0.24115	0.695	0.28413	N	0.918073	P	0.37781	0.608	B	0.26864	0.074	T	0.16778	-1.0391	8	0.87932	D	0	-23.8139	12.9884	0.58604	0.0:0.0:1.0:0.0	.	1237	Q96RK0	CIC_HUMAN	K	1237	.	ENSP00000160740:E1237K	E	+	1	0	CIC	47489187	0.997000	0.39634	0.990000	0.47175	0.207000	0.24258	3.550000	0.53691	2.537000	0.85549	0.491000	0.48974	GAG	CIC	-	NULL		0.711	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42797347	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42797347	G	A	42797347	3	1	151	1	0	0	0	0	1	0	0	0	3429	943	33	1	3767	1	CIC	19	42797347	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	212731	42797347	16331636	816	25449										
TMEM145	284339	genome.wustl.edu	37	chr19	42827764	42827764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgcccatcagcggccaacaaGaacttcccgtaccacgtgcg	9	17	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42827764G>C	ENST00000301204.3	+	14	1265	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	408					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGCCAACAAGAACTTCCCGT	0.642																																																	0													65	55	59					19																	42827764		2203	4300	6503	SO:0001583	missense	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1224G>C	19.37:g.42827764G>C	ENSP00000301204:p.Lys408Asn			Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.K408N	ENST00000301204.3	37	c.1224	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831388	0.71258	.	.	ENSG00000167619	ENST00000301204	T	0.52526	0.66	4.83	3.79	0.43588	.	0.189612	0.42821	D	0.000656	T	0.41328	0.1154	L	0.57536	1.79	0.48135	D	0.999598	P	0.47762	0.9	B	0.39119	0.291	T	0.35798	-0.9774	10	0.40728	T	0.16	-21.2869	11.1943	0.48704	0.0916:0.0:0.9084:0.0	.	408	Q8NBT3	TM145_HUMAN	N	408	ENSP00000301204:K408N	ENSP00000301204:K408N	K	+	3	2	TMEM145	47519604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.812000	0.47994	1.166000	0.42689	0.655000	0.94253	AAG	TMEM145	-	NULL		0.642	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42827764	1	no_errors	ENST00000301204	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42827764	G	C	42827764	3	2	151	1	0	0	0	0	1	0	0	0	16089	933	33	1	1278	1	TMEM145	19	42827764	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	30417	42827764	16301219	817	25450										
ZNF234	10780	genome.wustl.edu	37	chr19	44660768	44660768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatcaaagagtccacatggGagagaaatgctataagtgtg	11	6	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:44660768G>C	ENST00000426739.2	+	6	857	c.599G>C	c.(598-600)gGa>gCa	p.G200A	ZNF234_ENST00000592437.1_Missense_Mutation_p.G200A	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTCCACATGGGAGAGAAATGC	0.413																																																	0													146	148	147					19																	44660768		2203	4300	6503	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.599G>C	19.37:g.44660768G>C	ENSP00000400878:p.Gly200Ala		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G200A	ENST00000426739.2	37	c.599	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348213	0.61183	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.26373	1.74	4.19	3.16	0.36331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41880	0.1178	M	0.64260	1.97	0.33071	D	0.535401	D	0.62365	0.991	P	0.59703	0.862	T	0.55817	-0.8081	9	0.87932	D	0	.	11.6304	0.51171	0.0955:0.0:0.9045:0.0	.	200	Q14588	ZN234_HUMAN	A	200;29	ENSP00000400878:G200A	ENSP00000400878:G200A	G	+	2	0	ZNF226	49352608	1.000000	0.71417	0.821000	0.32701	0.901000	0.52897	3.598000	0.54038	2.330000	0.79161	0.586000	0.80456	GGA	ZNF234	-	pfscan_Znf_C2H2		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	G			44660768	1	no_errors	ENST00000426739	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44660768	G	C	44660768	3	2	151	1	0	0	0	0	1	0	0	0	17817	1174	41	1	613	1	ZNF234	19	44660768	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1833004	44660768	14468215	818	25451										
NKPD1	284353	genome.wustl.edu	37	chr19	45657004	45657004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgctgcagctcctcgctctCgcgctgcgcggcctcctgct	12	18	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:45657004C>T	ENST00000438936.2	-	3	236	c.25G>A	c.(25-27)Gag>Aag	p.E9K	NKPD1_ENST00000317951.4_Missense_Mutation_p.E231K|NKPD1_ENST00000589776.1_Missense_Mutation_p.E9K|NKPD1_ENST00000429338.1_Missense_Mutation_p.E9K			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	9	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGCTCTCGCGCTGCGCG	0.731																																																	0													5	6	5					19																	45657004		1908	3905	5813	SO:0001583	missense	284353			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.25G>A	19.37:g.45657004C>T	ENSP00000401739:p.Glu9Lys		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.E231K	ENST00000438936.2	37	c.691		19	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038057	0.54896	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.52057	0.72;0.68;0.71	5.09	5.09	0.68999	.	0.191572	0.43579	D	0.000543	T	0.41236	0.1150	L	0.53249	1.67	0.25774	N	0.984808	B	0.31209	0.313	B	0.17433	0.018	T	0.40098	-0.9581	10	0.42905	T	0.14	-36.454	13.9701	0.64235	0.0:1.0:0.0:0.0	.	9	Q17RQ9	NKPD1_HUMAN	K	231;9;9	ENSP00000321976:E231K;ENSP00000401739:E9K;ENSP00000404706:E9K	ENSP00000321976:E231K	E	-	1	0	NKPD1	50348844	0.912000	0.30974	0.709000	0.30452	0.381000	0.30169	4.500000	0.60387	2.359000	0.80004	0.491000	0.48974	GAG	NKPD1	-	pfam_KAP_NTPase		0.731	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	C	NM_198478		45657004	-1	no_errors	ENST00000317951	ensembl	human	known	70_37	missense	SNP	0.434	T	T	45657004	C	T	45657004	3	4	151	1	0	0	0	0	1	0	0	0	10470	893	31	1	1811	1	NKPD1	19	45657004	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	996236	45657004	13471979	819	25452										
SIX5	147912	genome.wustl.edu	37	chr19	46268875	46268875	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcccccaggagcagcccctCagggtcggggtctggcagcc	16	16	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:46268875C>A	ENST00000317578.6	-	3	2485	c.2104G>T	c.(2104-2106)Gag>Tag	p.E702*	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	702					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGCAGCCCCTCAGGGTCGGGG	0.672																																																	0													41	48	46					19																	46268875		2203	4299	6502	SO:0001587	stop_gained	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2104G>T	19.37:g.46268875C>A	ENSP00000316842:p.Glu702*			Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E702*	ENST00000317578.6	37	c.2104	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	25.9	4.683512	0.88639	.	.	ENSG00000177045	ENST00000317578	.	.	.	3.16	2.07	0.26955	.	1.302320	0.05097	N	0.486258	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.8291	7.9674	0.30107	0.0:0.7295:0.2705:0.0	.	.	.	.	X	702	.	ENSP00000316842:E702X	E	-	1	0	SIX5	50960715	0.977000	0.34250	0.717000	0.30585	0.627000	0.37826	2.388000	0.44398	0.864000	0.35578	0.561000	0.74099	GAG	SIX5	-	NULL		0.672	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46268875	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	nonsense	SNP	0.732	A	A	46268875	C	A	46268875	4	1	151	1	0	0	0	0	0	1	0	0	14380	835	29	3	119	3	SIX5	19	46268875	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	611871	46268875	12860108	820	25453										
SIX5	147912	genome.wustl.edu	37	chr19	46271345	46271345	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccccggtccggtcgcgctgtCgccggttcttgaaccagttg	13	15	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:46271345C>G	ENST00000317578.6	-	1	1139	c.758G>C	c.(757-759)cGa>cCa	p.R253P	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000591530.1_RNA|SIX5_ENST00000560168.1_Silent_p.A52A|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	253					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GTCGCGCTGTCGCCGGTTCTT	0.721																																																	0													14	16	16					19																	46271345		2197	4279	6476	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.758G>C	19.37:g.46271345C>G	ENSP00000316842:p.Arg253Pro			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R253P	ENST00000317578.6	37	c.758	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	16.14	3.038995	0.55003	.	.	ENSG00000177045	ENST00000317578	D	0.99167	-5.51	4.7	4.7	0.59300	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.773464	0.11580	N	0.549847	D	0.99648	0.9870	H	0.98936	4.375	0.33853	D	0.632823	D	0.89917	1.0	D	0.97110	1.0	D	0.98829	1.0750	10	0.87932	D	0	-4.5813	15.49	0.75597	0.0:1.0:0.0:0.0	.	253	Q8N196	SIX5_HUMAN	P	253	ENSP00000316842:R253P	ENSP00000316842:R253P	R	-	2	0	SIX5	50963185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.589000	0.82641	2.327000	0.79052	0.561000	0.74099	CGA	SIX5	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.721	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46271345	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46271345	C	G	46271345	3	3	151	1	0	0	0	0	1	0	0	0	14380	884	31	1	1473	1	SIX5	19	46271345	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2470	46271345	12857638	821	25454										
SIX5	147912	genome.wustl.edu	37	chr19	46271586	46271586	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgcgcggccgcgggcccgctCggcctcatggtagcgcgcgc	17	18	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:46271586C>A	ENST00000317578.6	-	1	898	c.517G>T	c.(517-519)Gag>Tag	p.E173*	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000591530.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	173					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGGCCCGCTCGGCCTCATGG	0.687																																																	0													13	12	12					19																	46271586		2190	4272	6462	SO:0001587	stop_gained	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.517G>T	19.37:g.46271586C>A	ENSP00000316842:p.Glu173*			Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E173*	ENST00000317578.6	37	c.517	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	36	5.742214	0.96873	.	.	ENSG00000177045	ENST00000317578	.	.	.	3.59	3.59	0.41128	.	0.702099	0.13322	N	0.396571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.5391	13.0904	0.59164	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000316842:E173X	E	-	1	0	SIX5	50963426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.696000	0.54757	2.010000	0.58986	0.561000	0.74099	GAG	SIX5	-	NULL		0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46271586	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46271586	C	A	46271586	4	1	151	1	0	0	0	0	0	1	0	0	14380	893	31	3	1714	3	SIX5	19	46271586	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	241	46271586	12857397	822	25455										
GPR77	27202	genome.wustl.edu	37	chr19	47844929	47844929	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcctcaatcccatgctcttCctgtattttgggagggctca	9	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:47844929C>T	ENST00000595464.1	+	2	1091	c.873C>T	c.(871-873)ttC>ttT	p.F291F	C5AR2_ENST00000257267.2_Silent_p.F291F|C5AR2_ENST00000600626.1_Silent_p.F291F	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	291					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CCATGCTCTTCCTGTATTTTG	0.652																																																	0													60	57	58					19																	47844929		2203	4300	6503	SO:0001819	synonymous_variant	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.873C>T	19.37:g.47844929C>T			B2RA09	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.F291	ENST00000595464.1	37	c.873	CCDS12699.1	19																																																																																			GPR77	-	pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.652	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	C	NM_018485		47844929	1	no_errors	ENST00000257267	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47844929	C	T	47844929	2	4	151	1	0	0	0	0	0	0	0	1	6728	854	30	1		1	GPR77	19	47844929	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1573343	47844929	11284054	823	25456										
CYTH2	9266	genome.wustl.edu	37	chr19	48981704	48981704	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcgtccccagaactgctttGaactttacatccccaacaac	4	16	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:48981704G>C	ENST00000452733.2	+	11	1443	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	CTC-273B12.8_ENST00000599877.1_lincRNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.E324Q			Q99418	CYH2_HUMAN	cytohesin 2	324	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAACTGCTTTGAACTTTACAT	0.587																																																	0													94	91	92					19																	48981704		2203	4300	6503	SO:0001583	missense	9266			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.967G>C	19.37:g.48981704G>C	ENSP00000408236:p.Glu323Gln		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E324Q	ENST00000452733.2	37	c.970	CCDS12722.1	19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893100	0.91889	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.75589	-0.95;-0.95	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85855	0.1406	10	0.72032	D	0.01	.	15.356	0.74428	0.0:0.0:1.0:0.0	.	323	Q99418-2	.	Q	323;324	ENSP00000408236:E323Q;ENSP00000391648:E324Q	ENSP00000391648:E324Q	E	+	1	0	CYTH2	53673516	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.648000	0.98483	2.553000	0.86117	0.655000	0.94253	GAA	CYTH2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.587	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYTH2	HGNC	protein_coding	OTTHUMT00000317060.1	G	NM_004228		48981704	1	no_errors	ENST00000427476	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48981704	G	C	48981704	3	2	151	1	0	0	0	0	1	0	0	0	4209	1291	45	1	1012	1	CYTH2	19	48981704	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1136775	48981704	10147279	824	25457										
GYS1	2997	genome.wustl.edu	37	chr19	49472556	49472556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggggcggacttagttacgctCctcgcccagggagctggtgg	17	11	0	0	rs546920953		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:49472556C>G	ENST00000323798.3	-	16	2399	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	GYS1_ENST00000544287.1_Missense_Mutation_p.E368Q|GYS1_ENST00000541188.1_Missense_Mutation_p.E655Q|GYS1_ENST00000263276.6_Missense_Mutation_p.E671Q	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	735					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TAGTTACGCTCCTCGCCCAGG	0.667																																																	0													15	16	15					19																	49472556		2192	4286	6478	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.2203G>C	19.37:g.49472556C>G	ENSP00000317904:p.Glu735Gln		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.E735Q	ENST00000323798.3	37	c.2203	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522840	0.64747	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.76060	-0.25;-0.56;-0.14;-0.99	5.34	5.34	0.76211	.	0.355880	0.31936	N	0.006833	T	0.67664	0.2917	N	0.19112	0.55	0.80722	D	1	D;D;D	0.58268	0.982;0.982;0.982	P;B;P	0.46825	0.528;0.431;0.528	T	0.73760	-0.3881	10	0.87932	D	0	-23.2883	16.9034	0.86119	0.0:1.0:0.0:0.0	.	655;671;735	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	Q	735;671;655;368	ENSP00000317904:E735Q;ENSP00000263276:E671Q;ENSP00000437922:E655Q;ENSP00000444004:E368Q	ENSP00000263276:E671Q	E	-	1	0	GYS1	54164368	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.461000	0.60115	2.660000	0.90430	0.462000	0.41574	GAG	GYS1	-	NULL		0.667	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	C	NM_002103		49472556	-1	no_errors	ENST00000323798	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49472556	C	G	49472556	3	3	151	1	0	0	0	0	1	0	0	0	6932	864	30	1	14	1	GYS1	19	49472556	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	490852	49472556	9656427	825	25458										
HRC	3270	genome.wustl.edu	37	chr19	49656892	49656892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccttgtcttcctcttcttCctcctcctggttcaggctga	6	16	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:49656892C>T	ENST00000252825.4	-	1	1789	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	HRC_ENST00000595625.1_Missense_Mutation_p.E535K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	535					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctcttcttcctcctcctGG	0.597																																					Melanoma(37;75 1097 24567 25669 30645)												0													63	37	46					19																	49656892		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1603G>A	19.37:g.49656892C>T	ENSP00000252825:p.Glu535Lys		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E535K	ENST00000252825.4	37	c.1603	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420223	0.25552	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.47869	0.83	3.29	3.29	0.37713	.	.	.	.	.	T	0.40448	0.1117	L	0.43923	1.385	0.22017	N	0.999419	P	0.51057	0.941	B	0.42916	0.402	T	0.17258	-1.0375	9	0.34782	T	0.22	.	10.7552	0.46232	0.0:1.0:0.0:0.0	.	535	P23327	SRCH_HUMAN	K	535;234	ENSP00000252825:E535K	ENSP00000252825:E535K	E	-	1	0	HRC	54348704	0.274000	0.24191	0.975000	0.42487	0.212000	0.24457	0.900000	0.28431	1.799000	0.52666	0.462000	0.41574	GAA	HRC	-	NULL		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49656892	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.657	T	T	49656892	C	T	49656892	3	4	151	1	0	0	0	0	1	0	0	0	7372	864	30	1	520	1	HRC	19	49656892	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	184336	49656892	9472091	826	25459										
MYH14	79784	genome.wustl.edu	37	chr19	50758564	50758564	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaggtgcagctctgctatttCtccgccagggggtgggtgtc	16	10	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:50758564C>T	ENST00000596571.1	+	15	1921				MYH14_ENST00000262269.8_Missense_Mutation_p.S678F|MYH14_ENST00000376970.2_Missense_Mutation_p.S670F|MYH14_ENST00000601313.1_Missense_Mutation_p.S678F|MYH14_ENST00000598205.1_Intron|MYH14_ENST00000440075.2_Missense_Mutation_p.S678F|MYH14_ENST00000425460.1_Intron			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle						actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGCTATTTCTCCGCCAGGG	0.607																																																	0													62	58	59					19																	50758564		692	1591	2283	SO:0001627	intron_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1922-1992C>T	19.37:g.50758564C>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S678F	ENST00000596571.1	37	c.2033	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	1.746	-0.490389	0.04322	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000262269	D;D;D	0.87179	-2.21;-2.22;-2.21	3.96	1.76	0.24704	.	.	.	.	.	T	0.80571	0.4648	L	0.52126	1.63	0.09310	N	1	B	0.21753	0.06	B	0.21360	0.034	T	0.66344	-0.5947	9	0.33141	T	0.24	.	4.88	0.13674	0.2086:0.6813:0.0:0.1101	.	678	Q7Z406-2	.	F	678;670;678	ENSP00000406273:S678F;ENSP00000366169:S670F;ENSP00000262269:S678F	ENSP00000262269:S678F	S	+	2	0	MYH14	55450376	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.132000	0.31418	0.609000	0.30018	-0.143000	0.13931	TCT	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	C	NM_024729		50758564	1	no_errors	ENST00000262269	ensembl	human	known	70_37	missense	SNP	0.000	T	T	50758564	C	T	50758564	1	4	151	0	1	0	0	0	0	0	0	0	10056	913	32	1		1	MYH14	19	50758564	Intron	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1101672	50758564	8370419	827	25460										
LRRC4B	94030	genome.wustl.edu	37	chr19	51022460	51022460	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgtaggaggggatgctctcGatggggttgttccgcagcca	17	9	1	0	rs138901834		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:51022460G>A	ENST00000599957.1	-	3	707	c.510C>T	c.(508-510)atC>atT	p.I170I	LRRC4B_ENST00000389201.3_Silent_p.I170I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	170					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I170I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGATGCTCTCGATGGGGTTGT	0.652																																																	1	Substitution - coding silent(1)	skin(1)											59	64	62					19																	51022460		2203	4300	6503	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.510C>T	19.37:g.51022460G>A			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I170	ENST00000599957.1	37	c.510	CCDS42595.1	19																																																																																			LRRC4B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	G	NM_001080457		51022460	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51022460	G	A	51022460	2	1	151	1	0	0	0	0	0	0	0	1	9030	1048	37	1		1	LRRC4B	19	51022460	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	263896	51022460	8106523	828	25461										
ACPT	93650	genome.wustl.edu	37	chr19	51297070	51297070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagagaaggcccagctgacaGggggtgaggtgtgggtctgg	20	7	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:51297070G>A	ENST00000270593.1	+	7	775	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	ACPT_ENST00000270594.3_Missense_Mutation_p.G166R|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	259						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGCTGACAGGGGGTGAGGT	0.612																																																	0													59	58	59					19																	51297070		2203	4300	6503	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.775G>A	19.37:g.51297070G>A	ENSP00000270593:p.Gly259Arg		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.G166R	ENST00000270593.1	37	c.496	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	19.30	3.801212	0.70567	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.51574	0.7;0.7	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000001	T	0.72153	0.3425	M	0.86502	2.82	0.48571	D	0.999676	D	0.89917	1.0	D	0.91635	0.999	T	0.78605	-0.2139	10	0.87932	D	0	-21.4976	15.0193	0.71617	0.0:0.0:1.0:0.0	.	259	Q9BZG2	PPAT_HUMAN	R	259;166	ENSP00000270593:G259R;ENSP00000270594:G166R	ENSP00000270593:G259R	G	+	1	0	ACPT	55988882	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	5.392000	0.66272	2.218000	0.71995	0.561000	0.74099	GGG	ACPT	-	pfam_His_Pase_superF_clade-2		0.612	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51297070	1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.998	A	A	51297070	G	A	51297070	3	1	151	1	0	0	0	0	1	0	0	0	168	1000	35	4	801	4	ACPT	19	51297070	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	274610	51297070	7831913	829	25462										
FPR2	2358	genome.wustl.edu	37	chr19	52272802	52272802	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccttcttcaacagctgcctCaaccccatgctttacgtctt	5	16	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:52272802C>T	ENST00000598776.1	+	2	1663	c.891C>T	c.(889-891)ctC>ctT	p.L297L	FPR2_ENST00000598953.1_Silent_p.L297L|FPR2_ENST00000340023.6_Silent_p.L297L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	297					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACAGCTGCCTCAACCCCATGC	0.542																																																	0													121	112	115					19																	52272802		2203	4300	6503	SO:0001819	synonymous_variant	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.891C>T	19.37:g.52272802C>T			A8K3E2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.L297	ENST00000598776.1	37	c.891	CCDS12840.1	19																																																																																			FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	C	NM_001005738		52272802	1	no_errors	ENST00000340023	ensembl	human	known	70_37	silent	SNP	1.000	T	T	52272802	C	T	52272802	2	4	151	1	0	0	0	0	0	0	0	1	6057	813	29	1		1	FPR2	19	52272802	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	975732	52272802	6856181	830	25463										
ZNF480	147657	genome.wustl.edu	37	chr19	52819093	52819093	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttttacaaacaggaatctCtcttcctgacctgaatatta	4	9	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:52819093C>G	ENST00000595962.1	+	4	272	c.206C>G	c.(205-207)tCt>tGt	p.S69C	ZNF480_ENST00000335090.6_5'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Intron|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACAGGAATCTCTCTTCCTGAC	0.408																																																	0													54	54	54					19																	52819093		2203	4300	6503	SO:0001583	missense	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.206C>G	19.37:g.52819093C>G	ENSP00000471754:p.Ser69Cys		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S69C	ENST00000595962.1	37	c.206	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	C	0.193	-1.051189	0.01981	.	.	ENSG00000198464	ENST00000354515;ENST00000468240	T	0.00816	5.66	1.88	0.78	0.18556	Krueppel-associated box (3);	.	.	.	.	T	0.00580	0.0019	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46428	-0.9192	9	0.18710	T	0.47	.	4.4087	0.11421	0.0:0.7843:0.0:0.2157	.	69	Q8WV37	ZN480_HUMAN	C	91;69	ENSP00000417424:S69C	ENSP00000346510:S91C	S	+	2	0	ZNF480	57510905	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.539000	0.23175	0.132000	0.18615	-0.289000	0.09944	TCT	ZNF480	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.408	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	C	NM_144684		52819093	1	no_errors	ENST00000468240	ensembl	human	known	70_37	missense	SNP	0.001	G	G	52819093	C	G	52819093	3	3	151	1	0	0	0	0	1	0	0	0	17965	913	32	1	216	1	ZNF480	19	52819093	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	546291	52819093	6309890	831	25464										
ZNF808	388558	genome.wustl.edu	37	chr19	53056534	53056534	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcagtgtcaagaagatgaaaGaaatggccatgaagcaccca	10	8	2	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:53056534G>A	ENST00000359798.4	+	5	545	c.365G>A	c.(364-366)aGa>aAa	p.R122K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAAGATGAAAGAAATGGCCAT	0.378																																																	0													158	162	161					19																	53056534		2203	4300	6503	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.365G>A	19.37:g.53056534G>A	ENSP00000352846:p.Arg122Lys		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R122K	ENST00000359798.4	37	c.365	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	8.883	0.952191	0.18431	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000486474;ENST00000461321	T;T;T;T	0.04809	3.55;5.71;3.66;5.63	1.75	-0.992	0.10232	.	.	.	.	.	T	0.05410	0.0143	L	0.39397	1.21	0.09310	N	1	D	0.55605	0.972	P	0.55161	0.77	T	0.12941	-1.0528	9	0.02654	T	1	.	2.2223	0.03975	0.2035:0.0:0.497:0.2994	.	122	Q8N4W9	ZN808_HUMAN	K	122;122;53;122	ENSP00000352846:R122K;ENSP00000419291:R122K;ENSP00000418528:R53K;ENSP00000418696:R122K	ENSP00000352846:R122K	R	+	2	0	ZNF808	57748346	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.656000	0.01980	-0.364000	0.08088	0.305000	0.20034	AGA	ZNF808	-	NULL		0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	G	NM_001039886		53056534	1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.004	A	A	53056534	G	A	53056534	3	1	151	1	0	0	0	0	1	0	0	0	18203	942	33	1	375	1	ZNF808	19	53056534	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	237441	53056534	6072449	832	25465										
ZNF415	55786	genome.wustl.edu	37	chr19	53612192	53612192	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctgatgagttgcaaggcttGaagtctgactgaacaccttg	11	8	2	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:53612192G>C	ENST00000500065.4	-	4	1439	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	ZNF415_ENST00000455735.2_Nonsense_Mutation_p.S417*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.S417*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.S356*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.S139*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.S369*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.S381*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGCAAGGCTTGAAGTCTGACT	0.428																																																	0													74	68	70					19																	53612192		2203	4300	6503	SO:0001587	stop_gained	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1106C>G	19.37:g.53612192G>C	ENSP00000439435:p.Ser369*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.S417*	ENST00000500065.4	37	c.1250	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657701	0.67586	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.67	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.4337	0.27143	0.1079:0.4849:0.4072:0.0	.	.	.	.	X	369;369;417;381;417;356	.	ENSP00000243643:S369X	S	-	2	0	ZNF415	58304004	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.735000	0.00802	-0.290000	0.09025	-0.494000	0.04653	TCA	ZNF415	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	G	NM_018355		53612192	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	53612192	G	C	53612192	4	2	151	1	0	0	0	0	0	1	0	0	17922	1294	45	1	565	1	ZNF415	19	53612192	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	555658	53612192	5516791	833	25466										
ZNF845	91664	genome.wustl.edu	37	chr19	53855360	53855360	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	attgtggcaagaccttcagtCagacatcatcccttgtatac	7	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:53855360C>G	ENST00000595091.1	+	5	1651	c.1432C>G	c.(1432-1434)Cag>Gag	p.Q478E	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q478E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GACCTTCAGTCAGACATCATC	0.378																																																	0													32	30	30					19																	53855360		692	1590	2282	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1432C>G	19.37:g.53855360C>G	ENSP00000470005:p.Gln478Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q478E	ENST00000595091.1	37	c.1432	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	C	4.476	0.088190	0.08583	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.35421	1.31	2.08	0.98	0.19750	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32194	0.0821	L	0.31578	0.945	0.09310	N	1	P	0.45902	0.868	P	0.50659	0.647	T	0.17107	-1.0380	9	0.26408	T	0.33	.	7.5978	0.28058	0.0:0.8542:0.0:0.1458	.	478	Q96IR2	ZN845_HUMAN	E	478	ENSP00000388311:Q478E	ENSP00000412086:Q478E	Q	+	1	0	ZNF845	58547172	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-6.098000	0.00081	0.190000	0.20209	0.411000	0.27672	CAG	ZNF845	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	C	XM_039908		53855360	1	no_errors	ENST00000458035	ensembl	human	known	70_37	missense	SNP	0.001	G	G	53855360	C	G	53855360	3	3	151	1	0	0	0	0	1	0	0	0	18221	827	29	1	1442	1	ZNF845	19	53855360	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	243168	53855360	5273623	834	25467										
LILRB2	10288	genome.wustl.edu	37	chr19	54783860	54783860	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaaggctcccctgacaactGagggtgacgggactcccctg	12	14	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:54783860G>C	ENST00000391749.4	-	4	412	c.141C>G	c.(139-141)ctC>ctG	p.L47L	LILRB2_ENST00000314446.5_Silent_p.L47L|LILRB2_ENST00000391746.1_Silent_p.L47L|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391748.1_Silent_p.L47L|LILRB2_ENST00000471216.1_5'UTR|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	47	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGACAACTGAGGGTGACGG	0.532																																																	0													152	154	153					19																	54783860		2203	4300	6503	SO:0001819	synonymous_variant	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.141C>G	19.37:g.54783860G>C			A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L47	ENST00000391749.4	37	c.141	CCDS12886.1	19																																																																																			LILRB2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	G			54783860	-1	no_errors	ENST00000391749	ensembl	human	known	70_37	silent	SNP	0.038	C	C	54783860	G	C	54783860	2	2	151	1	0	0	0	0	0	0	0	1	8811	1277	45	1		1	LILRB2	19	54783860	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	928500	54783860	4345123	835	25468										
LENG9	94059	genome.wustl.edu	37	chr19	54974291	54974291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caaagacgaggtcggtgcgcGaggcgcggtcccacacaagg	16	12	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:54974291G>A	ENST00000333834.4	-	1	603	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	162							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.S140W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GTCGGTGCGCGAGGCGCGGTC	0.751																																																	1	Substitution - Missense(1)	cervix(1)											8	10	9					19																	54974291		2071	4140	6211	SO:0001583	missense	94059			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.485C>T	19.37:g.54974291G>A	ENSP00000331647:p.Ser162Leu		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.S162L	ENST00000333834.4	37	c.485	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206339	0.58343	.	.	ENSG00000182909	ENST00000333834	T	0.35236	1.32	3.59	3.59	0.41128	.	0.594650	0.16160	U	0.226804	T	0.52885	0.1762	M	0.78456	2.415	0.42584	D	0.993229	D	0.69078	0.997	P	0.54590	0.756	T	0.61691	-0.7011	10	0.72032	D	0.01	-21.2461	13.0983	0.59206	0.0:0.0:1.0:0.0	.	162	Q96B70	LENG9_HUMAN	L	162	ENSP00000331647:S162L	ENSP00000331647:S162L	S	-	2	0	LENG9	59666103	1.000000	0.71417	0.976000	0.42696	0.103000	0.19146	3.568000	0.53820	1.743000	0.51761	0.305000	0.20034	TCG	LENG9	-	NULL		0.751	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	G	NM_198988		54974291	-1	no_errors	ENST00000333834	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54974291	G	A	54974291	3	1	151	1	0	0	0	0	1	0	0	0	8745	1059	37	1	1024	1	LENG9	19	54974291	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	190431	54974291	4154692	836	25469										
NLRP2	55655	genome.wustl.edu	37	chr19	55497541	55497541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaaaaacatttccccagctGatgctcatcggaacctctgc	6	14	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:55497541G>C	ENST00000543010.1	+	8	2367	c.2224G>C	c.(2224-2226)Gat>Cat	p.D742H	NLRP2_ENST00000391721.4_Missense_Mutation_p.D718H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D739H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D720H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D719H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D720H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D718H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D742H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	742					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTCCCCAGCTGATGCTCATCG	0.453																																																	0													101	82	88					19																	55497541		2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2224G>C	19.37:g.55497541G>C	ENSP00000445135:p.Asp742His		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D742H	ENST00000543010.1	37	c.2224	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771127	0.31320	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	2.65	1.36	0.22044	.	0.874893	0.09330	N	0.817082	T	0.48241	0.1489	M	0.63843	1.955	0.09310	N	1	B;P;B;P;B	0.39847	0.245;0.691;0.409;0.544;0.409	B;B;B;B;B	0.40038	0.127;0.317;0.202;0.317;0.168	T	0.40496	-0.9560	10	0.48119	T	0.1	.	5.362	0.16093	0.1888:0.0:0.8112:0.0	.	719;720;739;718;742	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	H	742;718;720;742;720;719;718;739	ENSP00000445135:D742H;ENSP00000375601:D718H;ENSP00000344074:D720H;ENSP00000409370:D742H;ENSP00000440601:D720H;ENSP00000402474:D719H;ENSP00000441133:D718H;ENSP00000263437:D739H	ENSP00000263437:D739H	D	+	1	0	NLRP2	60189353	0.003000	0.15002	0.000000	0.03702	0.173000	0.22820	0.642000	0.24735	0.541000	0.28827	0.650000	0.86243	GAT	NLRP2	-	NULL		0.453	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	G	NM_017852		55497541	1	no_errors	ENST00000448584	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55497541	G	C	55497541	3	2	151	1	0	0	0	0	1	0	0	0	10501	1290	45	1	2250	1	NLRP2	19	55497541	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	523250	55497541	3631442	837	25470										
EPN1	29924	genome.wustl.edu	37	chr19	56203149	56203149	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	atggaccttgctgacgtcttCacggccccagctcctgcccc	9	18	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:56203149C>T	ENST00000270460.6	+	7	1103	c.792C>T	c.(790-792)ttC>ttT	p.F264F	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Silent_p.F239F|EPN1_ENST00000411543.2_Silent_p.F350F	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	264					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTGACGTCTTCACGGCCCCAG	0.687																																																	0													58	66	63					19																	56203149		1970	4132	6102	SO:0001819	synonymous_variant	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.792C>T	19.37:g.56203149C>T			Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.F350	ENST00000270460.6	37	c.1050	CCDS46199.1	19																																																																																			EPN1	-	NULL		0.687	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	C	NM_013333		56203149	1	no_errors	ENST00000411543	ensembl	human	known	70_37	silent	SNP	0.998	T	T	56203149	C	T	56203149	2	4	151	1	0	0	0	0	0	0	0	1	5197	825	29	1		1	EPN1	19	56203149	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	705608	56203149	2925834	838	25471										
ZNF749	388567	genome.wustl.edu	37	chr19	57956145	57956145	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttttcaaaaaggtctgacctCattcaacacaagaggattga	7	8	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:57956145C>G	ENST00000334181.4	+	3	1879	c.1629C>G	c.(1627-1629)ctC>ctG	p.L543L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGTCTGACCTCATTCAACACA	0.448																																																	0													93	88	90					19																	57956145		2203	4300	6503	SO:0001819	synonymous_variant	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1629C>G	19.37:g.57956145C>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L543	ENST00000334181.4	37	c.1629	CCDS33132.2	19																																																																																			ZNF749	-	NULL		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	C	NM_001023561		57956145	1	no_errors	ENST00000334181	ensembl	human	known	70_37	silent	SNP	0.000	G	G	57956145	C	G	57956145	2	3	151	1	0	0	0	0	0	0	0	1	18161	813	29	1		1	ZNF749	19	57956145	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1752996	57956145	1172838	839	25472										
ZNF419	79744	genome.wustl.edu	37	chr19	58004813	58004813	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtgaatgtggaaaagctttCaggcataattccacacttgt	9	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:58004813C>G	ENST00000221735.7	+	5	1074	c.888C>G	c.(886-888)ttC>ttG	p.F296L	ZNF419_ENST00000426954.2_Missense_Mutation_p.F284L|ZNF419_ENST00000442920.2_Missense_Mutation_p.F283L|ZNF419_ENST00000415379.2_Missense_Mutation_p.F250L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.F297L|ZNF419_ENST00000347466.6_Missense_Mutation_p.F264L|ZNF419_ENST00000354197.4_Missense_Mutation_p.F284L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAAAGCTTTCAGGCATAATT	0.423																																																	0													97	95	96					19																	58004813		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.888C>G	19.37:g.58004813C>G	ENSP00000221735:p.Phe296Leu		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F297L	ENST00000221735.7	37	c.891	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356609	0.41801	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	2.43	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61527	0.2354	M	0.84948	2.725	0.09310	N	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.989;0.996;0.989;1.0;0.97;1.0	D;D;D;D;D;P;D	0.72625	0.973;0.968;0.978;0.968;0.973;0.487;0.973	T	0.52801	-0.8527	9	0.87932	D	0	.	7.4043	0.26981	0.0:0.5413:0.0:0.4587	.	250;250;283;284;297;264;296	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	L	271;297;284;284;283;297;264;250;296	ENSP00000388864:F297L;ENSP00000390916:F284L;ENSP00000346136:F284L;ENSP00000414709:F283L;ENSP00000299860:F264L;ENSP00000392129:F250L;ENSP00000221735:F296L	ENSP00000221735:F296L	F	+	3	2	ZNF419	62696625	0.000000	0.05858	0.002000	0.10522	0.918000	0.54935	-0.716000	0.04991	-0.412000	0.07519	0.205000	0.17691	TTC	ZNF419	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	C	NM_024691		58004813	1	no_errors	ENST00000424930	ensembl	human	known	70_37	missense	SNP	0.042	G	G	58004813	C	G	58004813	3	3	151	1	0	0	0	0	1	0	0	0	17926	825	29	1	909	1	ZNF419	19	58004813	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	48668	58004813	1124170	840	25473										
ZNF814	730051	genome.wustl.edu	37	chr19	58385113	58385113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttcccacactctccacactCataaagtctgtccccagtgt	4	16	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:58385113C>G	ENST00000435989.2	-	3	1879	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	549					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACACTCATAAAGTCTG	0.433																																																	0													135	110	117					19																	58385113		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1645G>C	19.37:g.58385113C>G	ENSP00000410545:p.Glu549Gln		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E549Q	ENST00000435989.2	37	c.1645	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	7.793	0.711971	0.15306	.	.	ENSG00000204514	ENST00000435989	T	0.35789	1.29	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30792	0.0776	L	0.33792	1.035	0.09310	N	1	P	0.51791	0.948	P	0.51297	0.665	T	0.11155	-1.0599	9	0.36615	T	0.2	.	2.4004	0.04400	0.2987:0.5159:0.0:0.1853	.	549	B7Z6K7	ZN814_HUMAN	Q	549	ENSP00000410545:E549Q	ENSP00000410545:E549Q	E	-	1	0	ZNF814	63076925	0.000000	0.05858	0.218000	0.23776	0.056000	0.15407	-2.874000	0.00718	0.947000	0.37659	0.306000	0.20318	GAG	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	C	XM_001725708		58385113	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.124	G	G	58385113	C	G	58385113	3	3	151	1	0	0	0	0	1	0	0	0	18206	835	29	1	926	1	ZNF814	19	58385113	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	380300	58385113	743870	841	25474										
NRSN2	80023	genome.wustl.edu	37	chr20	334278	334278	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccagcccaagagggactcctGagctgcccacatggcctaag	11	15	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:334278G>A	ENST00000382291.3	+	4	854	c.614G>A	c.(613-615)tGa>tAa	p.*205*	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Silent_p.*205*|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	0						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				AGGGACTCCTGAGCTGCCCAC	0.577																																																	0													62	56	58					20																	334278		2203	4300	6503	SO:0001819	synonymous_variant	80023			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.614G>A	20.37:g.334278G>A			A8K3B2|Q6FII5|Q9NUD3	Silent	SNP	NULL	p.*205	ENST00000382291.3	37	c.614	CCDS12996.1	20																																																																																			NRSN2	-	NULL		0.577	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN2	HGNC	protein_coding	OTTHUMT00000077446.1	G	NM_024958		334278	1	no_errors	ENST00000382285	ensembl	human	known	70_37	silent	SNP	0.891	A	A	334278	G	A	334278	2	1	151	1	0	0	0	0	0	0	0	1	10687	1285	45	1		1	NRSN2	20	334278	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		334278	62691242	842	25475										
PRND	23627	genome.wustl.edu	37	chr20	4705251	4705251	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actgtctgcatgctgctcttCagccacctctctgcggtcca	8	16	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:4705251C>T	ENST00000305817.2	+	2	125	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	18					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TGCTGCTCTTCAGCCACCTCT	0.627																																																	0													61	56	58					20																	4705251		2203	4300	6503	SO:0001819	synonymous_variant	23627			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.54C>T	20.37:g.4705251C>T			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom	p.F18	ENST00000305817.2	37	c.54	CCDS13081.1	20																																																																																			PRND	-	pfam_Doppel		0.627	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRND	HGNC	protein_coding	OTTHUMT00000077827.2	C	NM_012409		4705251	1	no_errors	ENST00000305817	ensembl	human	known	70_37	silent	SNP	0.000	T	T	4705251	C	T	4705251	2	4	151	1	0	0	0	0	0	0	0	1	12570	825	29	1		1	PRND	20	4705251	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4370973	4705251	58320269	843	25476										
PLCB1	23236	genome.wustl.edu	37	chr20	8769323	8769323	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaatggataaaaagaggcagGagaagataacagaagctaaa	11	3	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:8769323G>T	ENST00000338037.6	+	29	3259	c.3232G>T	c.(3232-3234)Gag>Tag	p.E1078*	PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E1078*|PLCB1_ENST00000378641.3_Nonsense_Mutation_p.E1078*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1078					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGAGGCAGGAGAAGATAAC	0.348																																																	0													71	68	69					20																	8769323		2203	4300	6503	SO:0001587	stop_gained	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3232G>T	20.37:g.8769323G>T	ENSP00000338185:p.Glu1078*		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E1078*	ENST00000338037.6	37	c.3232	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	45	11.505314	0.99569	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.28	5.28	0.74379	.	0.244350	0.40554	N	0.001070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.2739	0.90077	0.0:0.0:1.0:0.0	.	.	.	.	X	1078;1078;1078;998;998	.	ENSP00000338185:E1078X	E	+	1	0	PLCB1	8717323	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.160000	0.94734	2.640000	0.89533	0.563000	0.77884	GAG	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C		0.348	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8769323	1	no_errors	ENST00000338037	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	8769323	G	T	8769323	4	4	151	1	0	0	0	0	0	1	0	0	12051	1175	41	3	3346	3	PLCB1	20	8769323	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4064072	8769323	54256197	844	25477										
SNX5	27131	genome.wustl.edu	37	chr20	17930840	17930840	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggctgcggtgtggatatagtCatcggcaacatctgcagaaa	13	8	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:17930840C>T	ENST00000377768.3	-	9	1039	c.727G>A	c.(727-729)Gac>Aac	p.D243N	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D243N	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	243	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TGGATATAGTCATCGGCAACA	0.418																																																	0													98	89	92					20																	17930840		2203	4300	6503	SO:0001583	missense	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.727G>A	20.37:g.17930840C>T	ENSP00000366998:p.Asp243Asn		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.D243N	ENST00000377768.3	37	c.727	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736548	0.69304	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.58506	0.33;0.33;1.64;1.86	5.74	5.74	0.90152	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.64997	1.995	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.55192	-0.8179	10	0.08179	T	0.78	-18.4647	20.2825	0.98528	0.0:1.0:0.0:0.0	.	264;243	B7Z476;Q9Y5X3	.;SNX5_HUMAN	N	243;243;206;208	ENSP00000366998:D243N;ENSP00000366988:D243N;ENSP00000404448:D206N;ENSP00000406731:D208N	ENSP00000366988:D243N	D	-	1	0	SNX5	17878840	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.446000	0.80609	2.873000	0.98535	0.561000	0.74099	GAC	SNX5	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.418	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	C			17930840	-1	no_errors	ENST00000377759	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17930840	C	T	17930840	3	4	151	1	0	0	0	0	1	0	0	0	14935	826	29	1	511	1	SNX5	20	17930840	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	9161517	17930840	45094680	845	25478										
XRN2	22803	genome.wustl.edu	37	chr20	21284093	21284093	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aagtacccgtccatcatagtCaactgcgtggaagagaaggt	11	9	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:21284093C>T	ENST00000377191.3	+	1	152	c.57C>T	c.(55-57)gtC>gtT	p.V19V	XRN2_ENST00000430571.2_5'UTR|XRN2_ENST00000539513.1_5'Flank	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	19					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCATCATAGTCAACTGCGTGG	0.716																																																	0													21	23	22					20																	21284093		1700	3117	4817	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.57C>T	20.37:g.21284093C>T			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.V19	ENST00000377191.3	37	c.57	CCDS13144.1	20																																																																																			XRN2	-	pfam_Put_53exo,pirsf_5_3_exoribonuclease_2		0.716	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21284093	1	no_errors	ENST00000377191	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21284093	C	T	21284093	2	4	151	1	0	0	0	0	0	0	0	1	17491	813	29	1		1	XRN2	20	21284093	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3353253	21284093	41741427	846	25479										
NAPB	63908	genome.wustl.edu	37	chr20	23375564	23375564	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtgcccactgcttaccttctCaatgtctacaagttcagtct	6	13	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:23375564C>G	ENST00000377026.4	-	5	500	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	NAPB_ENST00000432543.2_Missense_Mutation_p.E100Q|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.E45Q	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	139					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CTTACCTTCTCAATGTCTACA	0.448																																																	0													164	127	139					20																	23375564		2203	4300	6503	SO:0001583	missense	63908			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.415G>C	20.37:g.23375564C>G	ENSP00000366225:p.Glu139Gln		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	prints_NSF_attach	p.E139Q	ENST00000377026.4	37	c.415	CCDS13152.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986196	0.74589	.	.	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.79033	-1.23;-1.23;-1.23	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.72624	2.21	0.80722	D	1	B;D;P;B	0.63880	0.439;0.993;0.694;0.439	B;D;B;B	0.68192	0.248;0.956;0.328;0.248	D	0.87045	0.2143	10	0.49607	T	0.09	-4.6096	18.2906	0.90129	0.0:1.0:0.0:0.0	.	100;45;143;139	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	Q	139;45;100;96	ENSP00000366225:E139Q;ENSP00000381459:E45Q;ENSP00000413600:E100Q	ENSP00000366225:E139Q	E	-	1	0	NAPB	23323564	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.702000	0.84576	2.565000	0.86533	0.555000	0.69702	GAG	NAPB	-	prints_NSF_attach		0.448	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	C	NM_022080		23375564	-1	no_errors	ENST00000377026	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23375564	C	G	23375564	3	3	151	1	0	0	0	0	1	0	0	0	10185	835	29	1	509	1	NAPB	20	23375564	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2091471	23375564	39649956	847	25480										
NAPB	63908	genome.wustl.edu	37	chr20	23401954	23401954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcgctcacccaaacagccctCggaggaaggagtgggaggcc	15	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:23401954C>T	ENST00000377026.4	-	1	171	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	NAPB_ENST00000432543.2_Missense_Mutation_p.R29Q|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	29					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					AAACAGCCCTCGGAGGAAGGA	0.697																																																	0													47	33	37					20																	23401954		2183	4255	6438	SO:0001583	missense	63908			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.86G>A	20.37:g.23401954C>T	ENSP00000366225:p.Arg29Gln		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	prints_NSF_attach	p.R29Q	ENST00000377026.4	37	c.86	CCDS13152.1	20	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244582	0.59103	.	.	ENSG00000125814	ENST00000377026;ENST00000432543	T;T	0.75938	-0.98;-0.98	4.72	4.72	0.59763	Tetratricopeptide-like helical (1);	0.276682	0.34777	N	0.003685	T	0.54919	0.1888	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.04013	0.001;0.001;0.0	T	0.51268	-0.8727	10	0.17832	T	0.49	-15.3436	16.4136	0.83727	0.0:1.0:0.0:0.0	.	29;29;29	B4DK44;B4DIV0;Q9H115	.;.;SNAB_HUMAN	Q	29	ENSP00000366225:R29Q;ENSP00000413600:R29Q	ENSP00000366225:R29Q	R	-	2	0	NAPB	23349954	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	4.395000	0.59678	2.446000	0.82766	0.563000	0.77884	CGA	NAPB	-	NULL		0.697	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	C	NM_022080		23401954	-1	no_errors	ENST00000377026	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23401954	C	T	23401954	3	4	151	1	0	0	0	0	1	0	0	0	10185	884	31	1	854	1	NAPB	20	23401954	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	26390	23401954	39623566	848	25481										
XKR7	343702	genome.wustl.edu	37	chr20	30585105	30585105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcatccggattgacttgcctCgcaagaagtacccggcctgg	11	13	1	2	rs143869401		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:30585105C>T	ENST00000562532.2	+	3	1759	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	529						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACTTGCCTCGCAAGAAGTA	0.642																																																	0								C	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	47	54	52		1585	2.9	0.5	20	dbSNP_134	52	0,8600		0,0,4300	no	missense	XKR7	NM_001011718.1	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	529/580	30585105	1,13003	2202	4300	6502	SO:0001583	missense	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1585C>T	20.37:g.30585105C>T	ENSP00000477059:p.Arg529Cys		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R529C	ENST00000562532.2	37	c.1585	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835637	0.50951	2.27E-4	0.0	ENSG00000101321	ENST00000217299	.	.	.	4.85	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.74467	2.265	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.78329	-0.2246	9	0.87932	D	0	-1.0593	12.3583	0.55188	0.4328:0.5672:0.0:0.0	.	529	Q5GH72	XKR7_HUMAN	C	529	.	ENSP00000217299:R529C	R	+	1	0	XKR7	30048766	0.987000	0.35691	0.472000	0.27241	0.941000	0.58515	2.775000	0.47702	0.606000	0.29965	0.561000	0.74099	CGC	XKR7	-	NULL		0.642	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	C	NM_001011718		30585105	1	no_errors	ENST00000217299	ensembl	human	known	70_37	missense	SNP	0.900	T	T	30585105	C	T	30585105	3	4	151	1	0	0	0	0	1	0	0	0	17467	884	31	1	1595	1	XKR7	20	30585105	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7183151	30585105	32440415	849	25482										
HCK	3055	genome.wustl.edu	37	chr20	30659515	30659515	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtcggaggcaatacattctCaaaaactgaaaccagcgcca	9	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:30659515C>G	ENST00000520553.1	+	2	296	c.50C>G	c.(49-51)tCa>tGa	p.S17*	HCK_ENST00000534862.1_Nonsense_Mutation_p.S18*|HCK_ENST00000538448.1_Nonsense_Mutation_p.S17*|HCK_ENST00000518730.1_Nonsense_Mutation_p.S17*|HCK_ENST00000375862.2_Nonsense_Mutation_p.S38*|HCK_ENST00000375852.2_Nonsense_Mutation_p.S38*	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	38					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AATACATTCTCAAAAACTGAA	0.577																																																	0													120	99	106					20																	30659515		2203	4300	6503	SO:0001587	stop_gained	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.50C>G	20.37:g.30659515C>G	ENSP00000429848:p.Ser17*		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.S38*	ENST00000520553.1	37	c.113	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990972	0.74703	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	.	.	.	4.28	2.28	0.28536	.	0.505196	0.16161	N	0.226763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	5.1956	0.15236	0.0:0.6726:0.2137:0.1137	.	.	.	.	X	18;17;38;17;17;38	.	ENSP00000365012:S38X	S	+	2	0	HCK	30123176	0.005000	0.15991	0.769000	0.31535	0.216000	0.24613	1.150000	0.31639	1.120000	0.41904	0.305000	0.20034	TCA	HCK	-	NULL		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	C			30659515	1	no_errors	ENST00000375852	ensembl	human	known	70_37	nonsense	SNP	0.709	G	G	30659515	C	G	30659515	4	3	151	1	0	0	0	0	0	1	0	0	7014	838	29	1	125	1	HCK	20	30659515	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	74410	30659515	32366005	850	25483										
ASXL1	171023	genome.wustl.edu	37	chr20	31023127	31023127	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgaattagggcttggtggctCatgccctcctatgagggaaa	13	9	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:31023127C>G	ENST00000375687.4	+	13	3036	c.2612C>G	c.(2611-2613)tCa>tGa	p.S871*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.S866*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	871					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTGGTGGCTCATGCCCTCCT	0.463			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													168	171	170					20																	31023127		2203	4300	6503	SO:0001587	stop_gained	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2612C>G	20.37:g.31023127C>G	ENSP00000364839:p.Ser871*		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.S871*	ENST00000375687.4	37	c.2612	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.037855	0.98021	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.98	4.0	0.46444	.	1.098660	0.06791	N	0.786956	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.1473	8.1498	0.31134	0.0:0.8836:0.0:0.1164	.	.	.	.	X	871;871;871;792;866	.	ENSP00000305119:S866X	S	+	2	0	ASXL1	30486788	0.001000	0.12720	0.096000	0.21009	0.145000	0.21501	1.004000	0.29822	1.384000	0.46424	0.650000	0.86243	TCA	ASXL1	-	NULL		0.463	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	C	NM_015338		31023127	1	no_errors	ENST00000375687	ensembl	human	known	70_37	nonsense	SNP	0.277	G	G	31023127	C	G	31023127	4	3	151	1	0	0	0	0	0	1	0	0	1067	838	29	1	2668	1	ASXL1	20	31023127	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	363612	31023127	32002393	851	25484										
C20orf185	359710	genome.wustl.edu	37	chr20	31656683	31656683	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaagctcccacggtcacactCcacaacaagaaggccttggt	9	14	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:31656683C>G	ENST00000375494.3	+	10	1053	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	351					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CGGTCACACTCCACAACAAGA	0.572																																																	0													130	93	106					20																	31656683		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1053C>G	20.37:g.31656683C>G			Q5TDX7	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L351	ENST00000375494.3	37	c.1053	CCDS13212.1	20																																																																																			BPIFB3	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.572	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	C	NM_182658		31656683	1	no_errors	ENST00000375494	ensembl	human	known	70_37	silent	SNP	0.353	G	G	31656683	C	G	31656683	2	3	151	1	0	0	0	0	0	0	0	1	2102	842	30	1		1	C20orf185	20	31656683	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	633556	31656683	31368837	852	25485										
NCOA6	23054	genome.wustl.edu	37	chr20	33338291	33338291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcccgtgggacacctgcatCtggttttgaggaggaccagc	15	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:33338291C>G	ENST00000374796.2	-	10	4277	c.1707G>C	c.(1705-1707)caG>caC	p.Q569H	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q569H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	569	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACACCTGCATCTGGTTTTGAG	0.433																																																	0													41	43	43					20																	33338291		2203	4299	6502	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1707G>C	20.37:g.33338291C>G	ENSP00000363929:p.Gln569His		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.Q569H	ENST00000374796.2	37	c.1707	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689505	0.48097	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.36157	1.27;1.27	6.07	4.16	0.48862	.	0.000000	0.64402	D	0.000004	T	0.16727	0.0402	N	0.08118	0	0.42039	D	0.991064	P	0.35272	0.493	B	0.23275	0.045	T	0.06092	-1.0846	10	0.33141	T	0.24	-3.0597	12.7504	0.57306	0.0:0.8683:0.0:0.1317	.	569	Q14686	NCOA6_HUMAN	H	569	ENSP00000363929:Q569H;ENSP00000351894:Q569H	ENSP00000351894:Q569H	Q	-	3	2	NCOA6	32801952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.931000	0.40134	0.912000	0.36772	0.655000	0.94253	CAG	NCOA6	-	NULL		0.433	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	C	NM_014071		33338291	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33338291	C	G	33338291	3	3	151	1	0	0	0	0	1	0	0	0	10257	912	32	1	4512	1	NCOA6	20	33338291	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1681608	33338291	29687229	853	25486										
EDEM2	55741	genome.wustl.edu	37	chr20	33734979	33734979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtgggcgggatctggcgcgGagccgtcgggacctggcgca	20	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:33734979G>A	ENST00000374492.3	-	1	188	c.83C>T	c.(82-84)tCc>tTc	p.S28F	EDEM2_ENST00000374491.3_Missense_Mutation_p.S28F|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000541621.1_5'Flank	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	28					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATCTGGCGCGGAGCCGTCGGG	0.647																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													20	20	20					20																	33734979		2193	4295	6488	SO:0001583	missense	55741			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.83C>T	20.37:g.33734979G>A	ENSP00000363616:p.Ser28Phe		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.S28F	ENST00000374492.3	37	c.83	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	g	20.4	3.979649	0.74360	.	.	ENSG00000088298	ENST00000374491;ENST00000374492	T;T	0.59224	0.28;0.31	5.94	5.94	0.96194	.	0.298510	0.33691	N	0.004644	T	0.38719	0.1051	N	0.08118	0	0.80722	D	1	B;B	0.24963	0.115;0.07	B;B	0.29598	0.104;0.021	T	0.29027	-1.0025	10	0.13470	T	0.59	-16.4244	15.871	0.79119	0.0:0.0:1.0:0.0	.	28;28	Q9BV94-2;Q9BV94	.;EDEM2_HUMAN	F	28	ENSP00000363615:S28F;ENSP00000363616:S28F	ENSP00000363615:S28F	S	-	2	0	EDEM2	33198640	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.268000	0.51585	2.817000	0.96982	0.643000	0.83706	TCC	EDEM2	-	superfamily_Glyco_hydro_47		0.647	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	G	NM_018217		33734979	-1	no_errors	ENST00000374492	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33734979	G	A	33734979	3	1	151	1	0	0	0	0	1	0	0	0	4922	1174	41	1	1697	1	EDEM2	20	33734979	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	396688	33734979	29290541	854	25487										
ZNF335	63925	genome.wustl.edu	37	chr20	44582415	44582415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcccaccaaatggaccaggtGccagggtgatctgcggtagg	14	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:44582415G>A	ENST00000322927.2	-	18	2715	c.2615C>T	c.(2614-2616)gCa>gTa	p.A872V	ZNF335_ENST00000426788.1_Missense_Mutation_p.A717V	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	872					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGGACCAGGTGCCAGGGTGAT	0.632																																																	0													95	80	85					20																	44582415		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2615C>T	20.37:g.44582415G>A	ENSP00000325326:p.Ala872Val		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A872V	ENST00000322927.2	37	c.2615	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040095	0.55003	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09538	3.1;2.97	4.97	4.97	0.65823	.	0.129362	0.35407	N	0.003233	T	0.08582	0.0213	N	0.19112	0.55	0.25077	N	0.99096	B;B	0.34290	0.447;0.319	B;B	0.34931	0.192;0.115	T	0.24941	-1.0146	10	0.48119	T	0.1	-6.0589	13.6078	0.62058	0.0:0.0:1.0:0.0	.	717;872	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	V	872;649;717	ENSP00000325326:A872V;ENSP00000397098:A717V	ENSP00000243961:A649V	A	-	2	0	ZNF335	44015822	1.000000	0.71417	0.941000	0.38009	0.630000	0.37929	4.213000	0.58520	2.587000	0.87381	0.655000	0.94253	GCA	ZNF335	-	NULL		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	G	NM_022095		44582415	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	missense	SNP	0.967	A	A	44582415	G	A	44582415	3	1	151	1	0	0	0	0	1	0	0	0	17882	1319	46	4	1457	4	ZNF335	20	44582415	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	10847436	44582415	18443105	855	25488										
CDH22	64405	genome.wustl.edu	37	chr20	44841750	44841750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	catgtctgtgttctctcccaCgtctgagtcctcagccttca	7	15	5	1	rs143440003	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:44841750C>T	ENST00000372262.3	-	5	1316	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	CDH22_ENST00000537909.1_Missense_Mutation_p.V306M|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TTCTCTCCCACGTCTGAGTCC	0.582																																																	0									MET/VAL	1,4405	2.1+/-5.4	0,1,2202	158	97	118		916	4.2	1	20	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CDH22	NM_021248.1	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	306/829	44841750	2,13004	2203	4300	6503	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.916G>A	20.37:g.44841750C>T	ENSP00000361336:p.Val306Met		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V306M	ENST00000372262.3	37	c.916	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	c	13.75	2.330440	0.41297	2.27E-4	1.16E-4	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.51817	0.69;0.69	4.17	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.132588	0.50627	D	0.000104	T	0.35799	0.0944	L	0.37750	1.13	0.33542	D	0.595046	P	0.35959	0.53	B	0.27262	0.078	T	0.55049	-0.8201	10	0.42905	T	0.14	.	15.6823	0.77381	0.0:1.0:0.0:0.0	.	306	Q9UJ99	CAD22_HUMAN	M	306	ENSP00000361336:V306M;ENSP00000437790:V306M	ENSP00000361336:V306M	V	-	1	0	CDH22	44275157	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.316000	0.43761	2.172000	0.68678	0.550000	0.68814	GTG	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.582	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	C	NM_021248		44841750	-1	no_errors	ENST00000372262	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44841750	C	T	44841750	3	4	151	1	0	0	0	0	1	0	0	0	3112	536	19	2	1598	2	CDH22	20	44841750	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	259335	44841750	18183770	856	25489										
ZNFX1	57169	genome.wustl.edu	37	chr20	47871106	47871106	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggagtctcagctcggccattCtttctgctgatgtgcggtac	12	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:47871106C>G	ENST00000396105.1	-	10	3131	c.2885G>C	c.(2884-2886)aGa>aCa	p.R962T	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R962T|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R962T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	962							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCGGCCATTCTTTCTGCTGA	0.512																																																	0													200	171	181					20																	47871106		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2885G>C	20.37:g.47871106C>G	ENSP00000379412:p.Arg962Thr		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.R962T	ENST00000396105.1	37	c.2885	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476134	0.84640	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;T;T	0.81415	-1.49;-1.49;-1.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.68593	2.085	0.58432	D	0.999992	D	0.89917	1.0	D	0.75020	0.985	D	0.85704	0.1315	10	0.30854	T	0.27	-15.573	18.6856	0.91562	0.0:1.0:0.0:0.0	.	962	Q9P2E3	ZNFX1_HUMAN	T	962	ENSP00000360819:R962T;ENSP00000360817:R962T;ENSP00000379412:R962T	ENSP00000360817:R962T	R	-	2	0	ZNFX1	47304513	0.989000	0.36119	1.000000	0.80357	0.995000	0.86356	3.054000	0.49908	2.763000	0.94921	0.561000	0.74099	AGA	ZNFX1	-	NULL		0.512	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	C	NM_021035		47871106	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47871106	C	G	47871106	3	3	151	1	0	0	0	0	1	0	0	0	18235	913	32	1	2891	1	ZNFX1	20	47871106	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3029356	47871106	15154414	857	25490										
MC3R	4159	genome.wustl.edu	37	chr20	54824520	54824520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcctcatgggcaccctctaCgtgcacatgttcctctttgc	7	16	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:54824520C>T	ENST00000243911.2	+	1	733	c.621C>T	c.(619-621)taC>taT	p.Y207Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	207					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCACCCTCTACGTGCACATGT	0.577																																																	0													185	147	160					20																	54824520		2203	4300	6503	SO:0001819	synonymous_variant	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.621C>T	20.37:g.54824520C>T			Q4KN27|Q9H517	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.Y207	ENST00000243911.2	37	c.621	CCDS13449.2	20																																																																																			MC3R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	C			54824520	1	no_errors	ENST00000243911	ensembl	human	known	70_37	silent	SNP	1.000	T	T	54824520	C	T	54824520	2	4	151	1	0	0	0	0	0	0	0	1	9388	547	19	2		2	MC3R	20	54824520	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6953414	54824520	8201000	858	25491										
SYCP2	10388	genome.wustl.edu	37	chr20	58452496	58452496	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttcttgttcacactctgattCtgaatttgagagatctttat	6	7	5	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:58452496C>G	ENST00000357552.3	-	33	3319	c.3094G>C	c.(3094-3096)Gaa>Caa	p.E1032Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1032Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1032					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CACTCTGATTCTGAATTTGAG	0.308																																																	0													54	56	55					20																	58452496		2201	4296	6497	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3094G>C	20.37:g.58452496C>G	ENSP00000350162:p.Glu1032Gln		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.E1032Q	ENST00000357552.3	37	c.3094	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504237	0.85176	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.39997	1.05;1.05	5.57	5.57	0.84162	.	0.169621	0.41712	D	0.000832	T	0.62270	0.2414	M	0.66939	2.045	0.34919	D	0.748257	D	0.76494	0.999	D	0.74674	0.984	T	0.71748	-0.4499	10	0.56958	D	0.05	-13.2622	15.0506	0.71865	0.0:1.0:0.0:0.0	.	1032	Q9BX26	SYCP2_HUMAN	Q	1032	ENSP00000360040:E1032Q;ENSP00000350162:E1032Q	ENSP00000350162:E1032Q	E	-	1	0	SYCP2	57885891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.347000	0.59373	2.636000	0.89361	0.491000	0.48974	GAA	SYCP2	-	NULL		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58452496	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58452496	C	G	58452496	3	3	151	1	0	0	0	0	1	0	0	0	15462	922	32	1	1550	1	SYCP2	20	58452496	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3627976	58452496	4573024	859	25492										
C20orf177	63939	genome.wustl.edu	37	chr20	58520067	58520067	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctaggaaaaagggaaaggcaGagagctgtggtcatgccact	14	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:58520067G>A	ENST00000358293.3	+	5	1484	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	FAM217B_ENST00000360816.3_Missense_Mutation_p.E357K	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	357																	GGGAAAGGCAGAGAGCTGTGG	0.413																																																	0													62	64	64					20																	58520067		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1069G>A	20.37:g.58520067G>A	ENSP00000351040:p.Glu357Lys		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.E357K	ENST00000358293.3	37	c.1069	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.31510	1.49;1.49	5.35	2.89	0.33648	.	0.641674	0.14283	N	0.329408	T	0.18173	0.0436	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.18871	0.023	T	0.18935	-1.0321	10	0.56958	D	0.05	-12.5287	8.8424	0.35151	0.8294:0.0:0.1706:0.0	.	357	Q9NTX9	CT177_HUMAN	K	357	ENSP00000351040:E357K;ENSP00000354056:E357K	ENSP00000351040:E357K	E	+	1	0	C20orf177	57953462	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	0.806000	0.27126	0.262000	0.21774	-0.218000	0.12543	GAG	FAM217B	-	NULL		0.413	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58520067	1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	0.002	A	A	58520067	G	A	58520067	3	1	151	1	0	0	0	0	1	0	0	0	2101	943	33	1	1071	1	C20orf177	20	58520067	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	67571	58520067	4505453	860	25493										
NPBWR2	2832	genome.wustl.edu	37	chr20	62737876	62737876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagtactgcagcaggtgctcCgcgatgttgacgggcagtac	14	11	0	1	rs368729956		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:62737876C>T	ENST00000369768.1	-	1	648	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	103					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCAGGTGCTCCGCGATGTTGA	0.607													C|||	1	0.000199681	0	0	5008	,	,		21381	0.001		0	False		,,,				2504	0																0								C		1,4403	2.1+/-5.4	0,1,2201	43	37	39		309	-7.8	0	20		39	0,8598		0,0,4299	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		103/334	62737876	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	2832			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.309G>A	20.37:g.62737876C>T			Q6NWQ6|Q9H4K3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.A103	ENST00000369768.1	37	c.309	CCDS13557.1	20																																																																																			NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_NPY_rcpt		0.607	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	C	NM_005286		62737876	-1	no_errors	ENST00000369768	ensembl	human	known	70_37	silent	SNP	0.431	T	T	62737876	C	T	62737876	2	4	151	1	0	0	0	0	0	0	0	1	10593	639	23	2		2	NPBWR2	20	62737876	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4217809	62737876	287644	861	25494										
DOPEY2	9980	genome.wustl.edu	37	chr21	37617942	37617942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggaaaggcaggaggccgtcGaggccttgttcaagcacatc	15	10	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:37617942G>A	ENST00000399151.3	+	19	3749	c.3664G>A	c.(3664-3666)Gag>Aag	p.E1222K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1222					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGCCGTCGAGGCCTTGTT	0.612																																																	0													62	55	58					21																	37617942		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3664G>A	21.37:g.37617942G>A	ENSP00000382104:p.Glu1222Lys		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.E1222K	ENST00000399151.3	37	c.3664	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676983	0.68042	.	.	ENSG00000142197	ENST00000399151	T	0.66460	-0.21	4.76	3.86	0.44501	.	0.104242	0.64402	D	0.000004	T	0.73233	0.3561	M	0.70595	2.14	0.46749	D	0.999184	D;D	0.61697	0.99;0.982	P;P	0.50970	0.655;0.453	T	0.77595	-0.2529	10	0.62326	D	0.03	.	15.0143	0.71573	0.0:0.2692:0.7308:0.0	.	1222;1222	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1222	ENSP00000382104:E1222K	ENSP00000382104:E1222K	E	+	1	0	DOPEY2	36539812	1.000000	0.71417	0.809000	0.32408	0.995000	0.86356	5.199000	0.65152	1.122000	0.41944	0.655000	0.94253	GAG	DOPEY2	-	NULL		0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37617942	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.991	A	A	37617942	G	A	37617942	3	1	151	1	0	0	0	0	1	0	0	0	4718	1059	37	1	3734	1	DOPEY2	21	37617942	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		37617942	10511953	862	25495										
ABCG1	9619	genome.wustl.edu	37	chr21	43704687	43704687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cagcggcctggacagcgcctCctgcttccaggtggtctcgc	13	16	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:43704687C>A	ENST00000361802.2	+	7	897	c.752C>A	c.(751-753)tCc>tAc	p.S251Y	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Missense_Mutation_p.S397Y|ABCG1_ENST00000347800.2_Missense_Mutation_p.S248Y|ABCG1_ENST00000340588.4_Missense_Mutation_p.S359Y|ABCG1_ENST00000398449.3_Missense_Mutation_p.S251Y|ABCG1_ENST00000398457.2_Missense_Mutation_p.S253Y|ABCG1_ENST00000343687.3_Missense_Mutation_p.S262Y	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	251	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GACAGCGCCTCCTGCTTCCAG	0.642																																																	0													52	48	49					21																	43704687		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.752C>A	21.37:g.43704687C>A	ENSP00000354995:p.Ser251Tyr		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S397Y	ENST00000361802.2	37	c.1190	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581139	0.86748	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.22	4.22	0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.130854	0.52532	D	0.000061	T	0.76912	0.4054	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D	0.80764	0.99;0.987;0.993;0.973;0.993;0.994	T	0.78186	-0.2302	9	.	.	.	-17.5332	16.969	0.86294	0.0:1.0:0.0:0.0	.	262;262;251;251;248;253	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	Y	253;248;234;251;251;262;397;359	ENSP00000381475:S253Y;ENSP00000291524:S248Y;ENSP00000414541:S234Y;ENSP00000381467:S251Y;ENSP00000354995:S251Y;ENSP00000339744:S262Y;ENSP00000381464:S397Y;ENSP00000343820:S359Y	.	S	+	2	0	ABCG1	42577756	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.403000	0.79983	2.065000	0.61736	0.591000	0.81541	TCC	ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	C	NM_207174		43704687	1	no_errors	ENST00000398437	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43704687	C	A	43704687	3	1	151	1	0	0	0	0	1	0	0	0	68	855	30	3	946	3	ABCG1	21	43704687	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6086745	43704687	4425208	863	25496										
ABCG1	9619	genome.wustl.edu	37	chr21	43704738	43704738	+	Missense_Mutation	SNP	C	C	G													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctcgctcaagggggtcgctCcatcatttgcaccatccacc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:43704738C>G	ENST00000361802.2	+	7	948	c.803C>G	c.(802-804)tCc>tGc	p.S268C	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Missense_Mutation_p.S414C|ABCG1_ENST00000347800.2_Missense_Mutation_p.S265C|ABCG1_ENST00000340588.4_Missense_Mutation_p.S376C|ABCG1_ENST00000398449.3_Missense_Mutation_p.S268C|ABCG1_ENST00000398457.2_Missense_Mutation_p.S270C|ABCG1_ENST00000343687.3_Missense_Mutation_p.S279C	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	268	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGGGGTCGCTCCATCATTTGC	0.642																																																	0													81	77	79					21																	43704738		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.803C>G	21.37:g.43704738C>G	ENSP00000354995:p.Ser268Cys		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S414C	ENST00000361802.2	37	c.1241	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780361	0.70222	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.22	4.22	0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.064020	0.64402	D	0.000007	T	0.40979	0.1139	N	0.25485	0.75	0.46336	D	0.998992	B;P;D;D;P;D	0.55172	0.002;0.941;0.97;0.964;0.808;0.969	B;P;P;P;P;P	0.54460	0.002;0.753;0.682;0.556;0.605;0.639	T	0.13710	-1.0499	9	.	.	.	-37.2592	12.1327	0.53952	0.1715:0.8285:0.0:0.0	.	279;279;268;268;265;270	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	C	270;265;251;268;268;279;414;376	ENSP00000381475:S270C;ENSP00000291524:S265C;ENSP00000414541:S251C;ENSP00000381467:S268C;ENSP00000354995:S268C;ENSP00000339744:S279C;ENSP00000381464:S414C;ENSP00000343820:S376C	.	S	+	2	0	ABCG1	42577807	1.000000	0.71417	0.987000	0.45799	0.667000	0.39255	5.538000	0.67193	2.065000	0.61736	0.591000	0.81541	TCC	ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	C	NM_207174		43704738	1	no_errors	ENST00000398437	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43704738	C	G	43704738	3	3	151	1	0	0	0	0	1	0	0	0	68	855	30	1	997	1	ABCG1	21	43704738	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	51	43704738	4425157	864	25497	150	2								
ABCG1	9619	genome.wustl.edu	37	chr21	43704742	43704742	+	Silent	SNP	C	C	T													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gctcaagggggtcgctccatCatttgcaccatccaccagcc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:43704742C>T	ENST00000361802.2	+	7	952	c.807C>T	c.(805-807)atC>atT	p.I269I	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Silent_p.I415I|ABCG1_ENST00000347800.2_Silent_p.I266I|ABCG1_ENST00000340588.4_Silent_p.I377I|ABCG1_ENST00000398449.3_Silent_p.I269I|ABCG1_ENST00000398457.2_Silent_p.I271I|ABCG1_ENST00000343687.3_Silent_p.I280I	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	269	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTCGCTCCATCATTTGCACCA	0.642																																																	0													83	79	81					21																	43704742		2203	4300	6503	SO:0001819	synonymous_variant	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.807C>T	21.37:g.43704742C>T			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.I415	ENST00000361802.2	37	c.1245	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407414	0.25378	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.22	2.24	0.28232	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44967	-0.9293	4	.	.	.	-39.5828	5.6618	0.17672	0.1565:0.6714:0.0:0.1721	.	.	.	.	Y	5	.	.	H	+	1	0	ABCG1	42577811	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.495000	0.35627	0.896000	0.36366	0.591000	0.81541	CAT	ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	C	NM_207174		43704742	1	no_errors	ENST00000398437	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43704742	C	T	43704742	2	4	151	1	0	0	0	0	0	0	0	1	68	816	29	1		1	ABCG1	21	43704742	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4	43704742	4425153	865	25498	150	2								
KRTAP10-4	386672	genome.wustl.edu	37	chr21	45994648	45994648	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgctctggggcttcctcttCatgctgccagcaatctagct	9	13	4	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:45994648C>G	ENST00000400374.3	+	1	1043	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	338	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTTCCTCTTCATGCTGCCAG	0.652																																																	0													112	123	120					21																	45994648		2203	4300	6503	SO:0001587	stop_gained	386672			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1013C>G	21.37:g.45994648C>G	ENSP00000383225:p.Ser338*		Q08AS0	Nonsense_Mutation	SNP	NULL	p.S338*	ENST00000400374.3	37	c.1013	CCDS42957.1	21	.	.	.	.	.	.	.	.	.	.	c	10.26	1.301993	0.23736	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	.	.	.	3.4	0.357	0.16079	.	.	.	.	.	.	.	.	.	.	.	0.32351	N	0.558521	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.1761	0.03863	0.1827:0.4849:0.2105:0.1218	.	.	.	.	X	338;134	.	ENSP00000333987:S134X	S	+	2	0	KRTAP10-4	44819076	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.800000	0.04555	-0.209000	0.10156	-0.143000	0.13931	TCA	KRTAP10-4	-	NULL		0.652	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	C	NM_198687		45994648	1	no_errors	ENST00000400374	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	45994648	C	G	45994648	4	3	151	1	0	0	0	0	0	1	0	0	8531	838	29	1	1015	1	KRTAP10-4	21	45994648	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2289906	45994648	2135247	866	25499										
COL6A2	1292	genome.wustl.edu	37	chr21	47532338	47532338	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgcgaggagggcatccggctCttcgccgtggcccccaacca	13	17	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:47532338C>G	ENST00000300527.4	+	3	665	c.561C>G	c.(559-561)ctC>ctG	p.L187L	COL6A2_ENST00000357838.4_Silent_p.L187L|COL6A2_ENST00000397763.1_Silent_p.L187L|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Silent_p.L187L|COL6A2_ENST00000409416.1_Silent_p.L187L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	187	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCATCCGGCTCTTCGCCGTGG	0.701																																																	0													15	22	20					21																	47532338		2179	4263	6442	SO:0001819	synonymous_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.561C>G	21.37:g.47532338C>G			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L187	ENST00000300527.4	37	c.561	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	C			47532338	1	no_errors	ENST00000300527	ensembl	human	known	70_37	silent	SNP	0.966	G	G	47532338	C	G	47532338	2	3	151	1	0	0	0	0	0	0	0	1	3705	900	32	1		1	COL6A2	21	47532338	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1537690	47532338	597557	867	25500										
PCNT	5116	genome.wustl.edu	37	chr21	47860893	47860893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaacaagaaacactctccatGattgcccatttgggggtatt	9	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:47860893G>A	ENST00000359568.5	+	43	9626	c.9519G>A	c.(9517-9519)atG>atA	p.M3173I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3173	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACTCTCCATGATTGCCCATT	0.443																																																	0													94	92	93					21																	47860893		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9519G>A	21.37:g.47860893G>A	ENSP00000352572:p.Met3173Ile		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.M3173I	ENST00000359568.5	37	c.9519	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279033	0.80692	.	.	ENSG00000160299	ENST00000359568	T	0.01464	4.86	6.07	6.07	0.98685	Pericentrin/AKAP-450 centrosomal targeting domain (1);	0.000000	0.39083	N	0.001478	T	0.06005	0.0156	L	0.47716	1.5	0.33678	D	0.611758	D;D	0.64830	0.993;0.994	P;D	0.65010	0.886;0.931	T	0.07693	-1.0759	10	0.62326	D	0.03	.	10.7241	0.46057	0.0712:0.1337:0.795:0.0	.	2976;3173	O95613-2;O95613	.;PCNT_HUMAN	I	3173	ENSP00000352572:M3173I	ENSP00000352572:M3173I	M	+	3	0	PCNT	46685321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.146000	0.31589	2.884000	0.98904	0.655000	0.94253	ATG	PCNT	-	pfam_PACT_domain		0.443	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47860893	1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47860893	G	A	47860893	3	1	151	1	0	0	0	0	1	0	0	0	11614	1290	45	1	9689	1	PCNT	21	47860893	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	328555	47860893	269002	868	25501										
DGCR14	8220	genome.wustl.edu	37	chr22	19121936	19121936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttgctggccgtcctgctcaCaaggcgctgtagggctggcg	15	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:19121936C>T	ENST00000252137.6	-	10	1247	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	402					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCCTGCTCACAAGGCGCTGT	0.667																																																	0													62	58	60					22																	19121936		2203	4300	6503	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1204G>A	22.37:g.19121936C>T	ENSP00000252137:p.Val402Met		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.V402M	ENST00000252137.6	37	c.1204	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083681	0.76642	.	.	ENSG00000100056	ENST00000252137	T	0.24151	1.87	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.19910	-1.0291	10	0.37606	T	0.19	-21.3465	16.5948	0.84792	0.0:1.0:0.0:0.0	.	402	Q96DF8	DGC14_HUMAN	M	402	ENSP00000252137:V402M	ENSP00000252137:V402M	V	-	1	0	DGCR14	17501936	1.000000	0.71417	0.974000	0.42286	0.670000	0.39368	7.320000	0.79064	2.241000	0.73720	0.484000	0.47621	GTG	DGCR14	-	NULL		0.667	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	C			19121936	-1	no_errors	ENST00000252137	ensembl	human	known	70_37	missense	SNP	0.999	T	T	19121936	C	T	19121936	3	4	151	1	0	0	0	0	1	0	0	0	4470	478	17	4	230	4	DGCR14	22	19121936	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09		19121936	32182630	869	25502										
DGCR14	8220	genome.wustl.edu	37	chr22	19122626	19122626	+	Silent	SNP	C	C	T													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcctgcttcttggcccggttCttggcagcggcctcgttggc							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:19122626C>T	ENST00000252137.6	-	9	1141	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	366					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCCGGTTCTTGGCAGCGG	0.667																																																	0													119	100	106					22																	19122626		2203	4300	6503	SO:0001819	synonymous_variant	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1098G>A	22.37:g.19122626C>T			Q49AH7|Q9BTZ4	Silent	SNP	pfam_Nuclear_protein_DGCR14	p.K366	ENST00000252137.6	37	c.1098	CCDS13756.1	22																																																																																			DGCR14	-	pfam_Nuclear_protein_DGCR14		0.667	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	C			19122626	-1	no_errors	ENST00000252137	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19122626	C	T	19122626	2	4	151	1	0	0	0	0	0	0	0	1	4470	912	32	1		1	DGCR14	22	19122626	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	690	19122626	32181940	870	25503	151	2								
DGCR14	8220	genome.wustl.edu	37	chr22	19122634	19122634	+	Missense_Mutation	SNP	C	C	T													0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttggcccggttcttggcagCggcctcgttggccatcttca							TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:19122634C>T	ENST00000252137.6	-	9	1133	c.1090G>A	c.(1090-1092)Gct>Act	p.A364T		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	364					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TTCTTGGCAGCGGCCTCGTTG	0.662																																																	0													111	93	99					22																	19122634		2203	4300	6503	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1090G>A	22.37:g.19122634C>T	ENSP00000252137:p.Ala364Thr		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.A364T	ENST00000252137.6	37	c.1090	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779648	0.90195	.	.	ENSG00000100056	ENST00000252137	T	0.50001	0.76	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58934	-0.7548	10	0.27082	T	0.32	-14.3191	19.4356	0.94792	0.0:1.0:0.0:0.0	.	364	Q96DF8	DGC14_HUMAN	T	364	ENSP00000252137:A364T	ENSP00000252137:A364T	A	-	1	0	DGCR14	17502634	1.000000	0.71417	0.680000	0.29994	0.977000	0.68977	5.759000	0.68785	2.692000	0.91855	0.655000	0.94253	GCT	DGCR14	-	pfam_Nuclear_protein_DGCR14		0.662	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	C			19122634	-1	no_errors	ENST00000252137	ensembl	human	known	70_37	missense	SNP	0.999	T	T	19122634	C	T	19122634	3	4	151	1	0	0	0	0	1	0	0	0	4470	768	27	2	348	2	DGCR14	22	19122634	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8	19122634	32181932	871	25504	151	2								
C22orf36	2678	genome.wustl.edu	37	chr22	24984193	24984193	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacccttaccagctctgggtCttcctctggcgcaggctgga	11	14	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:24984193C>G	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.K137N	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGCTCTGGGTCTTCCTCTGGC	0.602																																																	0													74	84	81					22																	24984193		2098	4224	6322	SO:0001627	intron_variant	388886			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4417C>G	22.37:g.24984193C>G			Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	NULL	p.K137N	ENST00000248923.4	37	c.411	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244636	0.39697	.	.	ENSG00000178026	ENST00000318753	T	0.56275	0.47	3.68	0.371	0.16168	.	0.067787	0.56097	U	0.000029	T	0.56572	0.1994	M	0.71036	2.16	0.25012	N	0.991396	D	0.57257	0.979	P	0.52957	0.714	T	0.51888	-0.8648	10	0.72032	D	0.01	.	7.221	0.25988	0.0:0.6022:0.0:0.3978	.	137	Q2VPJ9	LRC6X_HUMAN	N	137	ENSP00000320520:K137N	ENSP00000320520:K137N	K	-	3	2	C22orf36	23314193	0.992000	0.36948	0.005000	0.12908	0.552000	0.35366	0.832000	0.27490	0.168000	0.19655	0.462000	0.41574	AAG	FAM211B	-	NULL		0.602	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM211B	HGNC	protein_coding	OTTHUMT00000319110.1	C	NM_013430		24984193	-1	no_errors	ENST00000318753	ensembl	human	known	70_37	missense	SNP	0.214	G	G	24984193	C	G	24984193	1	3	151	0	1	0	0	0	0	0	0	0	2151	912	32	1		1	C22orf36	22	24984193	Intron	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5861559	24984193	26320373	872	25505										
SEZ6L	23544	genome.wustl.edu	37	chr22	26688508	26688508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cccagttcctcacagtcggcGgaagtgctgggcgagctggt	15	12	1	0	rs371822368		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:26688508G>A	ENST00000248933.6	+	2	326	c.231G>A	c.(229-231)gcG>gcA	p.A77A	SEZ6L_ENST00000404234.3_Silent_p.A77A|SEZ6L_ENST00000343706.4_Silent_p.A77A|SEZ6L_ENST00000360929.3_Silent_p.A77A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000529632.2_Silent_p.A77A|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	77					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACAGTCGGCGGAAGTGCTGG	0.652																																																	0								G	,,,,,	0,4406		0,0,2203	57	50	52		231,231,231,231,231,231	-6.1	0	22		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	77/1024,77/1014,77/1012,77/950,77/949,77/1025	26688508	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.231G>A	22.37:g.26688508G>A			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A77	ENST00000248933.6	37	c.231	CCDS13833.1	22																																																																																			SEZ6L	-	NULL		0.652	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26688508	1	no_errors	ENST00000248933	ensembl	human	known	70_37	silent	SNP	0.000	A	A	26688508	G	A	26688508	2	1	151	1	0	0	0	0	0	0	0	1	14173	1103	39	2		2	SEZ6L	22	26688508	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1704315	26688508	24616058	873	25506										
OSBP2	23762	genome.wustl.edu	37	chr22	31283450	31283450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggaactagcagagatacacaGtcggaaatggcagcgggcac	14	9	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:31283450G>T	ENST00000332585.6	+	4	1249	c.1145G>T	c.(1144-1146)aGt>aTt	p.S382I	OSBP2_ENST00000403222.3_Missense_Mutation_p.S217I|OSBP2_ENST00000407373.1_Missense_Mutation_p.S209I|OSBP2_ENST00000401475.1_Missense_Mutation_p.S16I|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.S382I|OSBP2_ENST00000437268.2_Missense_Mutation_p.S124I|OSBP2_ENST00000446658.2_Missense_Mutation_p.S382I	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	382					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAGATACACAGTCGGAAATGG	0.617																																																	0													56	65	62					22																	31283450		2148	4256	6404	SO:0001583	missense	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1145G>T	22.37:g.31283450G>T	ENSP00000332576:p.Ser382Ile		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S382I	ENST00000332585.6	37	c.1145	CCDS43002.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.952751|4.952751	0.92660|0.92660	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000445781;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000452656|ENST00000454145;ENST00000453621;ENST00000431368	T;T;T;T;T;T;T|.	0.47528|.	0.84;0.84;1.4;1.3;1.4;0.87;0.87|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.041071|.	0.85682|.	D|.	0.000000|.	D|D	0.82559|0.82559	0.5063|0.5063	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.999;0.992;0.997;0.997;0.999;0.997|.	D;P;D;D;D;D|.	0.71656|.	0.974;0.791;0.943;0.943;0.961;0.947|.	D|D	0.85583|0.85583	0.1241|0.1241	10|5	0.38643|.	T|.	0.18|.	-35.4361|-35.4361	17.058|17.058	0.86540|0.86540	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124;382;217;209;382;382|.	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2|.	.;.;.;.;.;OSBP2_HUMAN|.	I|F	217;209;382;382;382;16;16;16;124;13|54	ENSP00000384213:S217I;ENSP00000385237:S209I;ENSP00000332576:S382I;ENSP00000371747:S382I;ENSP00000392080:S382I;ENSP00000385254:S16I;ENSP00000389200:S124I|.	ENSP00000332576:S382I|.	S|V	+|+	2|1	0|0	OSBP2|OSBP2	29613450|29613450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.488000|9.488000	0.97947|0.97947	2.357000|2.357000	0.79964|0.79964	0.563000|0.563000	0.77884|0.77884	AGT|GTC	OSBP2	-	superfamily_DNA-bd_dom_put		0.617	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	G	NM_030758		31283450	1	no_errors	ENST00000332585	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31283450	G	T	31283450	3	4	151	1	0	0	0	0	1	0	0	0	11298	1029	36	4	1159	4	OSBP2	22	31283450	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	4594942	31283450	20021116	874	25507										
SFI1	9814	genome.wustl.edu	37	chr22	31942899	31942899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcttcgaagaatggaaagagGagtggtgggttttccagcac	14	6	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:31942899G>A	ENST00000400288.2	+	5	496	c.391G>A	c.(391-393)Gag>Aag	p.E131K	SFI1_ENST00000443326.1_Missense_Mutation_p.E49K|SFI1_ENST00000400289.1_Missense_Mutation_p.E49K|SFI1_ENST00000443011.1_Missense_Mutation_p.E49K|SFI1_ENST00000414585.1_Missense_Mutation_p.E49K|SFI1_ENST00000540643.1_Missense_Mutation_p.E107K|SFI1_ENST00000432498.1_Missense_Mutation_p.E131K	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	131					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ATGGAAAGAGGAGTGGTGGGT	0.408																																																	0													121	118	119					22																	31942899		1864	4103	5967	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.391G>A	22.37:g.31942899G>A	ENSP00000383145:p.Glu131Lys		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.E131K	ENST00000400288.2	37	c.391	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605362	0.87157	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.12672	2.91;2.94;2.73;2.66;2.67;2.73;2.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	N	0.08118	0	0.27211	N	0.959906	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.998;0.999	D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.999;0.994;0.994	T	0.14420	-1.0473	10	0.66056	D	0.02	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	107;49;49;131;131;107	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	K	131;107;49;107;49;49;49;131	ENSP00000402679:E131K;ENSP00000443025:E107K;ENSP00000416469:E49K;ENSP00000397148:E49K;ENSP00000401199:E49K;ENSP00000383146:E49K;ENSP00000383145:E131K	ENSP00000383145:E131K	E	+	1	0	SFI1	30272899	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.449000	0.66619	2.650000	0.89964	0.591000	0.81541	GAG	SFI1	-	NULL		0.408	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	G	NM_014775		31942899	1	no_errors	ENST00000400288	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31942899	G	A	31942899	3	1	151	1	0	0	0	0	1	0	0	0	14186	1175	41	1	405	1	SFI1	22	31942899	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	659449	31942899	19361667	875	25508										
MYH9	4627	genome.wustl.edu	37	chr22	36691588	36691588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agctgtggaatccagcgtgtCctccaactctgttttcagag	10	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36691588C>A	ENST00000216181.5	-	26	3678	c.3448G>T	c.(3448-3450)Gac>Tac	p.D1150Y		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1150					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCAGCGTGTCCTCCAACTCT	0.602			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													87	74	78					22																	36691588		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3448G>T	22.37:g.36691588C>A	ENSP00000216181:p.Asp1150Tyr		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1150Y	ENST00000216181.5	37	c.3448	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349126	0.82132	.	.	ENSG00000100345	ENST00000216181	D	0.85629	-2.01	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95183	0.8301	10	0.87932	D	0	.	17.6926	0.88272	0.0:1.0:0.0:0.0	.	1150	P35579	MYH9_HUMAN	Y	1150	ENSP00000216181:D1150Y	ENSP00000216181:D1150Y	D	-	1	0	MYH9	35021534	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.776000	0.85560	2.261000	0.74972	0.561000	0.74099	GAC	MYH9	-	pfam_Myosin_tail		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36691588	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36691588	C	A	36691588	3	1	151	1	0	0	0	0	1	0	0	0	10065	855	30	3	2498	3	MYH9	22	36691588	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4748689	36691588	14612978	876	25509										
MYH9	4627	genome.wustl.edu	37	chr22	36691764	36691764	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggcagcttcctcttccactCtgccaaagcgaccagcaaca	8	16	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36691764C>T	ENST00000216181.5	-	26	3503		c.e26-1			NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCTTCCACTCTGCCAAAGCG	0.542			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													27	26	27					22																	36691764		2203	4299	6502	SO:0001630	splice_region_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3273-1G>A	22.37:g.36691764C>T			A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	SNP	-	e25-1	ENST00000216181.5	37	c.3273-1	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787642	0.70337	.	.	ENSG00000100345	ENST00000216181	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0348	0.89296	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH9	35021710	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.776000	0.85560	2.339000	0.79563	0.561000	0.74099	.	MYH9	-	-		0.542	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473	Intron	36691764	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	36691764	C	T	36691764	5	4	151	1	0	0	0	0	0	0	1	0	10065	927	32	1	2674	1	MYH9	22	36691764	Splice_Site	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	176	36691764	14612802	877	25510										
MYH9	4627	genome.wustl.edu	37	chr22	36696217	36696217	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctccaggatgatctgctcctCctccagctttttcagcttcg	7	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36696217C>G	ENST00000216181.5	-	23	3162	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	978					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATCTGCTCCTCCTCCAGCTTT	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													94	84	87					22																	36696217		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2932G>C	22.37:g.36696217C>G	ENSP00000216181:p.Glu978Gln		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E978Q	ENST00000216181.5	37	c.2932	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.150979	0.94645	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.76709	-1.04	5.63	5.63	0.86233	.	0.104963	0.64402	D	0.000006	D	0.85349	0.5676	M	0.91872	3.25	0.80722	D	1	P	0.48407	0.91	B	0.44044	0.439	D	0.88989	0.3413	10	0.87932	D	0	.	19.6824	0.95969	0.0:1.0:0.0:0.0	.	978	P35579	MYH9_HUMAN	Q	842;978	ENSP00000216181:E978Q	ENSP00000216181:E978Q	E	-	1	0	MYH9	35026163	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.781000	0.85668	2.665000	0.90641	0.655000	0.94253	GAG	MYH9	-	superfamily_Prefoldin		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36696217	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36696217	C	G	36696217	3	3	151	1	0	0	0	0	1	0	0	0	10065	864	30	1	3026	1	MYH9	22	36696217	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	4453	36696217	14608349	878	25511										
MYH9	4627	genome.wustl.edu	37	chr22	36744962	36744962	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacttacgtagatgagccctGagtagtaacgctccttgagg	11	10	0	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36744962G>C	ENST00000216181.5	-	2	550	c.320C>G	c.(319-321)tCa>tGa	p.S107*	MYH9_ENST00000401701.1_Nonsense_Mutation_p.S107*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	107	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GATGAGCCCTGAGTAGTAACG	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													107	86	93					22																	36744962		2203	4300	6503	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.320C>G	22.37:g.36744962G>C	ENSP00000216181:p.Ser107*		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S107*	ENST00000216181.5	37	c.320	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907673	0.92107	.	.	ENSG00000100345	ENST00000216181;ENST00000401701	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6697	0.91506	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000216181:S107X	S	-	2	0	MYH9	35074908	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.421000	0.82119	0.563000	0.77884	TCA	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36744962	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	36744962	G	C	36744962	4	2	151	1	0	0	0	0	0	1	0	0	10065	1294	45	1	5722	1	MYH9	22	36744962	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	48745	36744962	14559604	879	25512										
MYH9	4627	genome.wustl.edu	37	chr22	36745184	36745184	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cactcttgtcggaaggcaccCataccagcttcttggcagcc	9	15	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36745184C>T	ENST00000216181.5	-	2	328	c.98G>A	c.(97-99)tGg>tAg	p.W33*	MYH9_ENST00000401701.1_Nonsense_Mutation_p.W33*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	33					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAAGGCACCCATACCAGCTT	0.557			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													77	69	71					22																	36745184		2203	4300	6503	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.98G>A	22.37:g.36745184C>T	ENSP00000216181:p.Trp33*		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.W33*	ENST00000216181.5	37	c.98	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.415300	0.96092	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9944	0.92806	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	ENSP00000216181:W33X	W	-	2	0	MYH9	35075130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.491000	0.84063	0.563000	0.77884	TGG	MYH9	-	pfam_Myosin_N,superfamily_Myosin_S1_N		0.557	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36745184	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	36745184	C	T	36745184	4	4	151	1	0	0	0	0	0	1	0	0	10065	595	21	4	5944	4	MYH9	22	36745184	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	222	36745184	14559382	880	25513										
FOXRED2	80020	genome.wustl.edu	37	chr22	36892146	36892146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agagaaatttctgccatattCcatgttgatgacgaagagcc	9	8	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36892146C>T	ENST00000397224.4	-	7	1585	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	FOXRED2_ENST00000397223.4_Missense_Mutation_p.E498K|FOXRED2_ENST00000366463.3_Missense_Mutation_p.E50K|FOXRED2_ENST00000216187.6_Missense_Mutation_p.E498K	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	498					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCCATATTCCATGTTGATG	0.537																																																	0													104	105	105					22																	36892146		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1492G>A	22.37:g.36892146C>T	ENSP00000380401:p.Glu498Lys		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.E498K	ENST00000397224.4	37	c.1492	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487444	0.84854	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.54675	2.08;2.08;0.56;2.08	5.3	5.3	0.74995	.	0.050943	0.85682	D	0.000000	T	0.62344	0.2420	M	0.80847	2.515	0.54753	D	0.999989	P	0.51791	0.948	P	0.44772	0.46	T	0.70004	-0.4991	10	0.56958	D	0.05	-30.9368	19.0171	0.92899	0.0:1.0:0.0:0.0	.	498	Q8IWF2	FXRD2_HUMAN	K	498;498;50;498	ENSP00000380401:E498K;ENSP00000216187:E498K;ENSP00000382543:E50K;ENSP00000380400:E498K	ENSP00000216187:E498K	E	-	1	0	FOXRED2	35222092	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.562000	0.67346	2.491000	0.84063	0.650000	0.86243	GAA	FOXRED2	-	NULL		0.537	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955		36892146	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36892146	C	T	36892146	3	4	151	1	0	0	0	0	1	0	0	0	6052	864	30	1	574	1	FOXRED2	22	36892146	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	146962	36892146	14412420	881	25514										
C1QTNF6	114904	genome.wustl.edu	37	chr22	37581360	37581360	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggcaggatccagggggtcctCagagtcacagcaccgttggc	15	12	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:37581360C>G	ENST00000337843.2	-	2	262	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E63Q|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_5'Flank	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	44					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AGGGGGTCCTCAGAGTCACAG	0.592																																																	0													39	38	38					22																	37581360		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.187G>C	22.37:g.37581360C>G	ENSP00000338812:p.Glu63Gln		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E63Q	ENST00000337843.2	37	c.187	CCDS13943.1	22	.	.	.	.	.	.	.	.	.	.	C	1.136	-0.650958	0.03506	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.37058	1.22;1.22	4.49	-2.36	0.06663	.	0.880909	0.09807	N	0.753310	T	0.28466	0.0704	L	0.57536	1.79	0.09310	N	1	B;B	0.23249	0.082;0.006	B;B	0.20577	0.03;0.004	T	0.36480	-0.9746	10	0.14252	T	0.57	.	8.6528	0.34044	0.0:0.2464:0.5713:0.1822	.	63;44	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	Q	63	ENSP00000380299:E63Q;ENSP00000338812:E63Q	ENSP00000338812:E63Q	E	-	1	0	C1QTNF6	35911306	0.001000	0.12720	0.012000	0.15200	0.063000	0.16089	1.177000	0.31969	0.002000	0.14630	-0.479000	0.04858	GAG	C1QTNF6	-	NULL		0.592	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	C	NM_182486		37581360	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	missense	SNP	0.000	G	G	37581360	C	G	37581360	3	3	151	1	0	0	0	0	1	0	0	0	1972	835	29	1	657	1	C1QTNF6	22	37581360	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	689214	37581360	13723206	882	25515										
NOL12	79159	genome.wustl.edu	37	chr22	38087189	38087189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gccctcccctaggatctcctCcctcacagcatcactacatg	5	19	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:38087189C>T	ENST00000359114.4	+	6	558	c.488C>T	c.(487-489)tCc>tTc	p.S163F	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	163						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					AGGATCTCCTCCCTCACAGCA	0.572																																																	0													110	89	96					22																	38087189		2203	4300	6503	SO:0001583	missense	79159			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.488C>T	22.37:g.38087189C>T	ENSP00000352021:p.Ser163Phe			Missense_Mutation	SNP	pfam_Nucleolar_protein_12	p.S163F	ENST00000359114.4	37	c.488	CCDS13955.1	22	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273480	0.40194	.	.	ENSG00000256872	ENST00000359114	D	0.84370	-1.84	6.11	3.99	0.46301	.	0.444700	0.28296	N	0.015861	D	0.84229	0.5426	L	0.61218	1.895	0.31807	N	0.627594	P	0.35033	0.481	B	0.39617	0.305	D	0.85718	0.1323	10	0.72032	D	0.01	-0.2251	11.8391	0.52344	0.1385:0.7287:0.1328:0.0	.	163	Q9UGY1	NOL12_HUMAN	F	163	ENSP00000352021:S163F	ENSP00000352021:S163F	S	+	2	0	Z83844.2	36417135	0.007000	0.16637	0.641000	0.29422	0.013000	0.08279	0.876000	0.28092	0.896000	0.36366	-0.122000	0.15005	TCC	NOL12	-	NULL		0.572	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL12	HGNC	protein_coding	OTTHUMT00000319476.1	C	NM_024313		38087189	1	no_errors	ENST00000359114	ensembl	human	known	70_37	missense	SNP	0.856	T	T	38087189	C	T	38087189	3	4	151	1	0	0	0	0	1	0	0	0	10546	855	30	1	510	1	NOL12	22	38087189	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	505829	38087189	13217377	883	25516										
EIF3L	51386	genome.wustl.edu	37	chr22	38259338	38259338	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggctctgggatattatcgatGagttcatctaccaggtatct	10	8	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:38259338G>A	ENST00000412331.2	+	7	1147	c.565G>A	c.(565-567)Gag>Aag	p.E189K	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.E91K	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TATTATCGATGAGTTCATCTA	0.448																																																	0													128	113	118					22																	38259338		2203	4300	6503	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.565G>A	22.37:g.38259338G>A	ENSP00000416892:p.Glu189Lys			Missense_Mutation	SNP	pfam_TIF3_suL	p.E232K	ENST00000412331.2	37	c.694	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.693409	0.96793	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000262832;ENST00000406934	T;T	0.75367	-0.93;-0.93	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92664	0.6144	10	0.87932	D	0	-29.9791	18.6572	0.91458	0.0:0.0:1.0:0.0	.	91;189;232	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	K	189;232;156;91	ENSP00000416892:E189K;ENSP00000384634:E91K	ENSP00000262832:E156K	E	+	1	0	EIF3L	36589284	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.270000	0.95690	2.469000	0.83416	0.467000	0.42956	GAG	EIF3L	-	pfam_TIF3_suL		0.448	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	G	NM_016091		38259338	1	no_errors	ENST00000425539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38259338	G	A	38259338	3	1	151	1	0	0	0	0	1	0	0	0	5034	1291	45	1	591	1	EIF3L	22	38259338	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	172149	38259338	13045228	884	25517										
DNAJB7	150353	genome.wustl.edu	37	chr22	41257347	41257347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tacaagaaaaaatgtcaactCtccattatcttcagcttctc	3	11	5	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:41257347C>G	ENST00000307221.4	-	1	783	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	218							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AATGTCAACTCTCCATTATCT	0.338																																																	0													94	98	97					22																	41257347		2203	4300	6503	SO:0001583	missense	150353			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.652G>C	22.37:g.41257347C>G	ENSP00000307197:p.Glu218Gln		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E218Q	ENST00000307221.4	37	c.652	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.682389	0.00745	.	.	ENSG00000172404	ENST00000307221	T	0.46819	0.86	4.63	0.074	0.14393	.	0.242826	0.27447	N	0.019328	T	0.24236	0.0587	L	0.28014	0.82	0.09310	N	1	B	0.22003	0.063	B	0.25884	0.064	T	0.27297	-1.0078	10	0.02654	T	1	.	5.3071	0.15809	0.0:0.4981:0.3149:0.187	.	218	Q7Z6W7	DNJB7_HUMAN	Q	218	ENSP00000307197:E218Q	ENSP00000307197:E218Q	E	-	1	0	DNAJB7	39587293	0.013000	0.17824	0.000000	0.03702	0.156000	0.22039	0.673000	0.25203	0.128000	0.18479	-0.229000	0.12294	GAG	DNAJB7	-	NULL		0.338	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1	C	NM_145174		41257347	-1	no_errors	ENST00000307221	ensembl	human	known	70_37	missense	SNP	0.000	G	G	41257347	C	G	41257347	3	3	151	1	0	0	0	0	1	0	0	0	4635	922	32	1	281	1	DNAJB7	22	41257347	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2998009	41257347	10047219	885	25518										
MEI1	150365	genome.wustl.edu	37	chr22	42159295	42159295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tccatctatctgcttgcaatCtgccaggacaaagacaatac	6	12	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:42159295C>G	ENST00000401548.3	+	19	2278	c.2238C>G	c.(2236-2238)atC>atG	p.I746M	MEI1_ENST00000540880.1_Missense_Mutation_p.I64M|MEI1_ENST00000540833.1_Missense_Mutation_p.I486M|MEI1_ENST00000400107.1_Missense_Mutation_p.I114M|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCTTGCAATCTGCCAGGACA	0.527											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115	106	109					22																	42159295		1967	4166	6133	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2238C>G	22.37:g.42159295C>G	ENSP00000384115:p.Ile746Met	906		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I746M	ENST00000401548.3	37	c.2238	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410154	0.25465	.	.	ENSG00000167077	ENST00000401548;ENST00000540833;ENST00000400107;ENST00000540880	T;T;T;T	0.71817	-0.6;0.88;-0.17;1.17	5.67	-0.415	0.12355	.	0.561932	0.17790	N	0.161915	T	0.50752	0.1634	N	0.22421	0.69	0.45528	D	0.998484	B;P;B	0.37636	0.015;0.603;0.015	B;B;B	0.37267	0.013;0.245;0.013	T	0.42447	-0.9451	10	0.72032	D	0.01	-2.5478	5.7683	0.18239	0.0:0.5059:0.2683:0.2258	.	114;114;746	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	M	746;486;114;64	ENSP00000384115:I746M;ENSP00000444225:I486M;ENSP00000382978:I114M;ENSP00000437436:I64M	ENSP00000382978:I114M	I	+	3	3	MEI1	40489241	0.772000	0.28567	0.216000	0.23742	0.433000	0.31745	0.582000	0.23834	0.059000	0.16252	-0.150000	0.13652	ATC	MEI1	-	superfamily_ARM-type_fold		0.527	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	C	NM_152513		42159295	1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	0.259	G	G	42159295	C	G	42159295	3	3	151	1	0	0	0	0	1	0	0	0	9488	903	32	1	2312	1	MEI1	22	42159295	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	901948	42159295	9145271	886	25519										
TCF20	6942	genome.wustl.edu	37	chr22	42605803	42605803	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agggatttgtaactccagctCagggccaccttctgaagtgg	12	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:42605803C>T	ENST00000359486.3	-	1	5645	c.5509G>A	c.(5509-5511)Gag>Aag	p.E1837K	TCF20_ENST00000335626.4_Missense_Mutation_p.E1837K|TCF20_ENST00000404876.1_Missense_Mutation_p.E138K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACTCCAGCTCAGGGCCACCT	0.517																																																	0													133	136	135					22																	42605803		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5509G>A	22.37:g.42605803C>T	ENSP00000352463:p.Glu1837Lys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E1837K	ENST00000359486.3	37	c.5509	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114021	0.77210	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.68765	0.16;0.16;-0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	L	0.60455	1.87	0.53005	D	0.999967	D;D	0.63880	0.993;0.988	D;D	0.73708	0.981;0.957	T	0.78523	-0.2171	10	0.51188	T	0.08	-28.5975	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1837;1837	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1837;1837;138	ENSP00000352463:E1837K;ENSP00000335561:E1837K;ENSP00000385531:E138K	ENSP00000335561:E1837K	E	-	1	0	TCF20	40935747	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	7.679000	0.84048	2.884000	0.98904	0.655000	0.94253	GAG	TCF20	-	NULL		0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42605803	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42605803	C	T	42605803	3	4	151	1	0	0	0	0	1	0	0	0	15720	835	29	1	411	1	TCF20	22	42605803	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	446508	42605803	8698763	887	25520										
NUP50	10762	genome.wustl.edu	37	chr22	45580467	45580467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accatgccagtcaccatgttGattcgggtaaaaaccagcga	9	11	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:45580467G>C	ENST00000347635.4	+	8	1804	c.1338G>C	c.(1336-1338)ttG>ttC	p.L446F	NUP50_ENST00000425733.2_Missense_Mutation_p.L196F|NUP50_ENST00000407019.2_Missense_Mutation_p.L418F|NUP50_ENST00000396096.2_Missense_Mutation_p.L418F	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	446	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCACCATGTTGATTCGGGTAA	0.453																																																	0													42	39	40					22																	45580467		2202	4281	6483	SO:0001583	missense	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1338G>C	22.37:g.45580467G>C	ENSP00000345895:p.Leu446Phe		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.L446F	ENST00000347635.4	37	c.1338	CCDS14062.1	22	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092827	0.36952	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.61	-11.2	0.00127	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.64402	D	0.000001	T	0.63094	0.2482	M	0.92459	3.31	0.46298	D	0.998978	D	0.89917	1.0	D	0.97110	1.0	D	0.84491	0.0611	10	0.66056	D	0.02	-15.1632	15.4492	0.75259	0.1788:0.2355:0.5857:0.0	.	446	Q9UKX7	NUP50_HUMAN	F	446;418;196;418	ENSP00000345895:L446F;ENSP00000385555:L418F;ENSP00000406928:L196F;ENSP00000379403:L418F	ENSP00000345895:L446F	L	+	3	2	NUP50	43959131	0.007000	0.16637	0.005000	0.12908	0.088000	0.18126	-1.129000	0.03244	-2.033000	0.00925	-0.302000	0.09304	TTG	NUP50	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.453	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP50	HGNC	protein_coding	OTTHUMT00000321993.2	G			45580467	1	no_errors	ENST00000347635	ensembl	human	known	70_37	missense	SNP	0.137	C	C	45580467	G	C	45580467	3	2	151	1	0	0	0	0	1	0	0	0	10790	1281	45	1	1364	1	NUP50	22	45580467	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2974664	45580467	5724099	888	25521										
NUP50	10762	genome.wustl.edu	37	chr22	45580493	45580493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtaaaaaccagcgaggatgCagacgagttgcacaaaattt	11	7	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:45580493C>T	ENST00000347635.4	+	8	1830	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	NUP50_ENST00000425733.2_Missense_Mutation_p.A205V|NUP50_ENST00000407019.2_Missense_Mutation_p.A427V|NUP50_ENST00000396096.2_Missense_Mutation_p.A427V	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	455	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCGAGGATGCAGACGAGTTG	0.468																																																	0													38	38	38					22																	45580493		2203	4297	6500	SO:0001583	missense	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1364C>T	22.37:g.45580493C>T	ENSP00000345895:p.Ala455Val		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.A455V	ENST00000347635.4	37	c.1364	CCDS14062.1	22	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493252	0.84962	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.46	5.46	0.80206	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76841	-0.2810	10	0.37606	T	0.19	-27.8873	19.6891	0.95991	0.0:1.0:0.0:0.0	.	455	Q9UKX7	NUP50_HUMAN	V	455;427;205;427	ENSP00000345895:A455V;ENSP00000385555:A427V;ENSP00000406928:A205V;ENSP00000379403:A427V	ENSP00000345895:A455V	A	+	2	0	NUP50	43959157	1.000000	0.71417	0.233000	0.24025	0.393000	0.30537	7.552000	0.82192	2.706000	0.92434	0.655000	0.94253	GCA	NUP50	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.468	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP50	HGNC	protein_coding	OTTHUMT00000321993.2	C			45580493	1	no_errors	ENST00000347635	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45580493	C	T	45580493	3	4	151	1	0	0	0	0	1	0	0	0	10790	710	25	4	1390	4	NUP50	22	45580493	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	26	45580493	5724073	889	25522										
CELSR1	9620	genome.wustl.edu	37	chr22	46760469	46760469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcgcccccgctctcctggtCcggggggtactctccacggt	13	17	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:46760469C>T	ENST00000262738.3	-	33	8718	c.8719G>A	c.(8719-8721)Gac>Aac	p.D2907N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2907					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCTCCTGGTCCGGGGGGTAC	0.692																																																	0													27	32	31					22																	46760469		2198	4294	6492	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8719G>A	22.37:g.46760469C>T	ENSP00000262738:p.Asp2907Asn		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D2907N	ENST00000262738.3	37	c.8719	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091316	0.36855	.	.	ENSG00000075275	ENST00000262738	T	0.69306	-0.39	3.64	3.64	0.41730	.	0.094886	0.37437	U	0.002083	T	0.53433	0.1796	L	0.39898	1.24	0.80722	D	1	P	0.34462	0.454	B	0.29663	0.105	T	0.51803	-0.8659	10	0.17369	T	0.5	.	14.9349	0.70948	0.0:1.0:0.0:0.0	.	2907	Q9NYQ6	CELR1_HUMAN	N	2907	ENSP00000262738:D2907N	ENSP00000262738:D2907N	D	-	1	0	CELSR1	45139133	0.100000	0.21855	0.003000	0.11579	0.015000	0.08874	2.059000	0.41384	1.578000	0.49821	0.563000	0.77884	GAC	CELSR1	-	NULL		0.692	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246		46760469	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	0.055	T	T	46760469	C	T	46760469	3	4	151	1	0	0	0	0	1	0	0	0	3226	855	30	1	337	1	CELSR1	22	46760469	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1179976	46760469	4544097	890	25523										
MOV10L1	54456	genome.wustl.edu	37	chr22	50599221	50599221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accagacccaaagctttgctGatagtgctgggaaaccccca	9	13	0	2	rs376489254		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:50599221G>A	ENST00000262794.5	+	25	3512	c.3429G>A	c.(3427-3429)ctG>ctA	p.L1143L	MOV10L1_ENST00000395852.1_Silent_p.L270L|MOV10L1_ENST00000545383.1_Silent_p.L1143L|MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000540615.1_Silent_p.L1123L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1143					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAGCTTTGCTGATAGTGCTGG	0.463																																																	0								G	,,,	0,4406		0,0,2203	117	120	119		,3369,810,3429	4.7	1	22		119	1,8599		0,1,4299	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,1123/1166,270/339,1143/1212	50599221	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3429G>A	22.37:g.50599221G>A			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.L1143	ENST00000262794.5	37	c.3429	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.463	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50599221	1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50599221	G	A	50599221	2	1	151	1	0	0	0	0	0	0	0	1	9742	1277	45	1		1	MOV10L1	22	50599221	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	3838752	50599221	705345	891	25524										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50657019	50657019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtacttgctcacgcagccctCggtgatgacaatgttgagag	12	10	1	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:50657019C>T	ENST00000248846.5	-	22	4956	c.4852G>A	c.(4852-4854)Gag>Aag	p.E1618K	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1618					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACGCAGCCCTCGGTGATGACA	0.642																																																	0													52	47	49					22																	50657019		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4852G>A	22.37:g.50657019C>T	ENSP00000248846:p.Glu1618Lys		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.E1618K	ENST00000248846.5	37	c.4852	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103907	0.76983	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.07567	3.18;3.18	5.16	5.16	0.70880	.	0.257294	0.44902	D	0.000413	T	0.23926	0.0579	L	0.59436	1.845	0.51482	D	0.999929	D;D;D	0.76494	0.996;0.999;0.998	P;D;P	0.65233	0.878;0.933;0.811	T	0.00837	-1.1546	10	0.27785	T	0.31	.	18.2382	0.89957	0.0:1.0:0.0:0.0	.	1610;1618;1618	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	K	1618;304	ENSP00000248846:E1618K;ENSP00000405979:E304K	ENSP00000248846:E1618K	E	-	1	0	TUBGCP6	48999146	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	7.597000	0.82733	2.403000	0.81681	0.591000	0.81541	GAG	TUBGCP6	-	pfam_Spc97_Spc98		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	C	NM_020461		50657019	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50657019	C	T	50657019	3	4	151	1	0	0	0	0	1	0	0	0	16801	893	31	1	623	1	TUBGCP6	22	50657019	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	57798	50657019	647547	892	25525										
SBF1	6305	genome.wustl.edu	37	chr22	50893488	50893488	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gagtcgagcaggaaggtccgGaaacggcgggacacatggtg	18	8	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:50893488G>C	ENST00000390679.3	-	33	4744	c.4560C>G	c.(4558-4560)ttC>ttG	p.F1520L	SBF1_ENST00000380817.3_Missense_Mutation_p.F1546L|SBF1_ENST00000348911.6_Missense_Mutation_p.F1521L|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1520	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGGTCCGGAAACGGCGGG	0.617																																																	0													42	50	47					22																	50893488		2095	4212	6307	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4560C>G	22.37:g.50893488G>C	ENSP00000375097:p.Phe1520Leu		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.F1546L	ENST00000390679.3	37	c.4638		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.136696|4.136696	0.77662|0.77662	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	D;D;D|.	0.95622|.	-3.76;-3.76;-3.76|.	3.74|3.74	2.72|2.72	0.32119|0.32119	Myotubularin phosphatase domain (1);|.	0.058526|.	0.64402|.	N|.	0.000001|.	T|T	0.78438|0.78438	0.4283|0.4283	M|M	0.93062|0.93062	3.375|3.375	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.99;0.997|.	D;D;D|.	0.87578|.	0.998;0.979;0.995|.	T|T	0.79783|0.79783	-0.1658|-0.1658	10|5	0.87932|.	D|.	0|.	.|.	7.8774|7.8774	0.29601|0.29601	0.1948:0.0:0.8052:0.0|0.1948:0.0:0.8052:0.0	.|.	1520;1546;79|.	O95248;O95248-4;A6PVG7|.	MTMR5_HUMAN;.;.|.	L|A	1546;1521;1556;1520|80	ENSP00000370196:F1546L;ENSP00000252027:F1521L;ENSP00000375097:F1520L|.	ENSP00000336522:F1556L|.	F|P	-|-	3|1	2|0	SBF1|SBF1	49240354|49240354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.978000|1.978000	0.40598|0.40598	0.923000|0.923000	0.37045|0.37045	0.462000|0.462000	0.41574|0.41574	TTC|CCG	SBF1	-	NULL		0.617	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		G			50893488	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50893488	G	C	50893488	3	2	151	1	0	0	0	0	1	0	0	0	13888	1165	41	1	1075	1	SBF1	22	50893488	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	236469	50893488	411078	893	25526										
ACR	49	genome.wustl.edu	37	chr22	51182581	51182581	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	agtggtacaatgggcgcgttCagccaaccaatgtgtgcgcg	14	10	1	0	rs139675699		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:51182581C>T	ENST00000216139.5	+	4	698	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGCGCGTTCAGCCAACCAA	0.572																																																	0									stop/GLN	0,4406		0,0,2203	193	164	174		658	2.4	0	22	dbSNP_134	174	1,8599		0,1,4299	no	stop-gained	ACR	NM_001097.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		220/422	51182581	1,13005	2203	4300	6503	SO:0001587	stop_gained	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.658C>T	22.37:g.51182581C>T	ENSP00000216139:p.Gln220*		Q6ICK2	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q220*	ENST00000216139.5	37	c.658	CCDS14101.1	22	.	.	.	.	.	.	.	.	.	.	N	22.6	4.314042	0.81358	0.0	1.16E-4	ENSG00000100312	ENST00000216139	.	.	.	4.48	2.36	0.29203	.	1.108100	0.07077	N	0.836380	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.1298	1.9508	0.03366	0.2849:0.4508:0.1485:0.1159	.	.	.	.	X	220	.	ENSP00000216139:Q220X	Q	+	1	0	ACR	49529447	0.000000	0.05858	0.015000	0.15790	0.552000	0.35366	0.025000	0.13577	0.407000	0.25591	0.450000	0.29827	CAG	ACR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6		0.572	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	C	NM_001097		51182581	1	no_errors	ENST00000216139	ensembl	human	known	70_37	nonsense	SNP	0.010	T	T	51182581	C	T	51182581	4	4	151	1	0	0	0	0	0	1	0	0	169	827	29	1	672	1	ACR	22	51182581	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	289093	51182581	121985	894	25527										
SFRS17A	8227	genome.wustl.edu	37	chrX	1712389	1712389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccatcgtgcacgacacgtctGaggccgtggagctctgccct	12	15	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:1712389G>C	ENST00000313871.3	+	2	230	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.E12Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	12					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGACACGTCTGAGGCCGTGGA	0.627																																																	0													146	139	141					X																	1712389		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.34G>C	X.37:g.1712389G>C	ENSP00000324827:p.Glu12Gln		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	NULL	p.E12Q	ENST00000313871.3	37	c.34	CCDS14116.1	X	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585404	0.28268	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.34072	1.38;1.38	2.02	1.03	0.20045	.	0.000000	0.64402	U	0.000013	T	0.52773	0.1755	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.943;0.964	T	0.46652	-0.9176	9	0.62326	D	0.03	-28.8448	10.1355	0.42704	0.0:0.2024:0.7976:0.0	.	12;12	Q02040-3;Q02040	.;AK17A_HUMAN	Q	12	ENSP00000324827:E12Q;ENSP00000370660:E12Q	ENSP00000324827:E12Q	E	+	1	0	AKAP17A	1672389	1.000000	0.71417	0.010000	0.14722	0.315000	0.28087	7.091000	0.76923	-0.095000	0.12351	0.100000	0.15512	GAG	AKAP17A	-	NULL		0.627	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	G	NM_005088		1712389	1	no_errors	ENST00000313871	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1712389	G	C	1712389	3	2	151	1	0	0	0	0	1	0	0	0	14203	1291	45	1	36	1	SFRS17A	23	1712389	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09		1712389	153558171	895	25528										
ARSF	416	genome.wustl.edu	37	chrX	3030566	3030566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgacaaggaagaggaagtctCtcagcctcggggtcctaacg	13	10	2	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:3030566C>T	ENST00000381127.1	+	11	1963	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	ARSF_ENST00000537104.1_Missense_Mutation_p.S581F|ARSF_ENST00000359361.2_Missense_Mutation_p.S581F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	581					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGAAGTCTCTCAGCCTCGG	0.488																																																	0													50	39	42					X																	3030566		2203	4300	6503	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1742C>T	X.37:g.3030566C>T	ENSP00000370519:p.Ser581Phe		Q8TCC5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S581F	ENST00000381127.1	37	c.1742	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	C	7.431	0.638719	0.14386	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95980	-3.87;-3.87;-3.87	2.35	1.45	0.22620	.	0.855173	0.09539	U	0.788562	D	0.92835	0.7721	M	0.65498	2.005	0.09310	N	1	B	0.27380	0.177	B	0.23852	0.049	D	0.84954	0.0873	10	0.62326	D	0.03	.	4.8233	0.13403	0.0:0.6517:0.0:0.3483	.	581	P54793	ARSF_HUMAN	F	581	ENSP00000370519:S581F;ENSP00000445594:S581F;ENSP00000352319:S581F	ENSP00000352319:S581F	S	+	2	0	ARSF	3040566	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.336000	0.07863	0.060000	0.16281	0.411000	0.27672	TCT	ARSF	-	NULL		0.488	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	C			3030566	1	no_errors	ENST00000359361	ensembl	human	known	70_37	missense	SNP	0.000	T	T	3030566	C	T	3030566	3	4	151	1	0	0	0	0	1	0	0	0	992	913	32	1	1780	1	ARSF	23	3030566	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1318177	3030566	152239994	896	25529										
MXRA5	25878	genome.wustl.edu	37	chrX	3239578	3239578	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcccaggctgggccgtccttGagggattccaggttggagtt	15	10	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:3239578G>C	ENST00000217939.6	-	5	4302	c.4148C>G	c.(4147-4149)tCa>tGa	p.S1383*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1383						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCGTCCTTGAGGGATTCCA	0.507																																																	0													34	33	33					X																	3239578		2203	4299	6502	SO:0001587	stop_gained	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4148C>G	X.37:g.3239578G>C	ENSP00000217939:p.Ser1383*		Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1383*	ENST00000217939.6	37	c.4148	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	40	8.003241	0.98605	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	2.85	-0.575	0.11734	.	2.128780	0.02909	U	0.136475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	3.7442	0.08541	0.249:0.0:0.5637:0.1873	.	.	.	.	X	1383	.	ENSP00000217939:S1383X	S	-	2	0	MXRA5	3249578	0.001000	0.12720	0.001000	0.08648	0.094000	0.18550	0.186000	0.16978	-0.116000	0.11893	0.384000	0.25694	TCA	MXRA5	-	NULL		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3239578	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	3239578	G	C	3239578	4	2	151	1	0	0	0	0	0	1	0	0	10026	1294	45	1	4350	1	MXRA5	23	3239578	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	209012	3239578	152030982	897	25530										
ATXN3L	92552	genome.wustl.edu	37	chrX	13337060	13337060	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gacagcggcctgtactgtgcCttcactgatgtcatcactga	10	12	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:13337060C>G	ENST00000380622.2	-	1	1458	c.994G>C	c.(994-996)Ggc>Cgc	p.G332R	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	332			G -> D (in dbSNP:rs4830842). {ECO:0000269|PubMed:11450850, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTACTGTGCCTTCACTGATG	0.403																																																	0													196	163	173					X																	13337060		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.994G>C	X.37:g.13337060C>G	ENSP00000369996:p.Gly332Arg		B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.G332R	ENST00000380622.2	37	c.994	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	C	5.782	0.328631	0.10956	.	.	ENSG00000123594	ENST00000380622	T	0.16897	2.31	0.793	0.793	0.18632	.	0.067617	0.64402	D	0.000011	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28902	-1.0029	9	0.87932	D	0	.	.	.	.	.	332	Q9H3M9	ATX3L_HUMAN	R	332	ENSP00000369996:G332R	ENSP00000369996:G332R	G	-	1	0	ATXN3L	13246981	0.020000	0.18652	0.010000	0.14722	0.004000	0.04260	-0.155000	0.10115	0.659000	0.30945	0.415000	0.27848	GGC	ATXN3L	-	NULL		0.403	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	C	NM_001135995		13337060	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	missense	SNP	0.010	G	G	13337060	C	G	13337060	3	3	151	1	0	0	0	0	1	0	0	0	1215	681	24	4	77	4	ATXN3L	23	13337060	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	10097482	13337060	141933500	898	25531										
GRPR	2925	genome.wustl.edu	37	chrX	16142202	16142202	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacccggggatcctctatgtCatccctgcagtttatggggt	11	12	2	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:16142202C>T	ENST00000380289.2	+	1	524	c.126C>T	c.(124-126)gtC>gtT	p.V42V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	42					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCCTCTATGTCATCCCTGCAG	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													206	184	192					X																	16142202		2203	4300	6503	SO:0001819	synonymous_variant	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.126C>T	X.37:g.16142202C>T		708	B2R910	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V42	ENST00000380289.2	37	c.126	CCDS14174.1	X																																																																																			GRPR	-	prints_GPCR_Rhodpsn		0.493	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	C	NM_005314		16142202	1	no_errors	ENST00000380289	ensembl	human	known	70_37	silent	SNP	1.000	T	T	16142202	C	T	16142202	2	4	151	1	0	0	0	0	0	0	0	1	6828	813	29	1		1	GRPR	23	16142202	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2805142	16142202	139128358	899	25532										
NHS	4810	genome.wustl.edu	37	chrX	17744255	17744255	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	acacagcccctcatgccaatGaggatgccagtgttttcgtg	10	12	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:17744255G>A	ENST00000380060.3	+	6	2304	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	NHS_ENST00000398097.3_Missense_Mutation_p.E500K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	677					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCATGCCAATGAGGATGCCAG	0.517																																																	0													152	138	143					X																	17744255		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1966G>A	X.37:g.17744255G>A	ENSP00000369400:p.Glu656Lys		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.E656K	ENST00000380060.3	37	c.1966	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	15.32	2.800047	0.50208	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52295	0.67;0.68	6.03	6.03	0.97812	.	0.136701	0.64402	D	0.000003	T	0.54565	0.1866	M	0.68952	2.095	0.80722	D	1	P;P;P;P	0.48503	0.801;0.801;0.592;0.911	B;B;B;B	0.43867	0.434;0.434;0.254;0.355	T	0.60167	-0.7316	10	0.72032	D	0.01	-12.2062	19.4775	0.94995	0.0:0.0:1.0:0.0	.	677;498;500;656	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	K	656;500;498	ENSP00000369400:E656K;ENSP00000381170:E500K	ENSP00000369397:E498K	E	+	1	0	NHS	17654176	1.000000	0.71417	0.996000	0.52242	0.574000	0.36063	9.476000	0.97823	2.554000	0.86153	0.600000	0.82982	GAG	NHS	-	NULL		0.517	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17744255	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17744255	G	A	17744255	3	1	151	1	0	0	0	0	1	0	0	0	10435	1291	45	1	2093	1	NHS	23	17744255	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1602053	17744255	137526305	900	25533										
PTCHD1	139411	genome.wustl.edu	37	chrX	23411482	23411482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cacagacatgttgaggaattCctttctgaaagcccctcaat	7	11	2	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:23411482C>T	ENST00000379361.4	+	3	2707	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	616					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGAGGAATTCCTTTCTGAAA	0.388																																																	0													75	77	76					X																	23411482		2203	4298	6501	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1847C>T	X.37:g.23411482C>T	ENSP00000368666:p.Ser616Phe		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S616F	ENST00000379361.4	37	c.1847	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227379	0.22542	.	.	ENSG00000165186	ENST00000379361	D	0.86297	-2.1	5.59	5.59	0.84812	.	0.435189	0.25025	N	0.033739	T	0.79890	0.4524	L	0.29908	0.895	0.30979	N	0.722658	B	0.15141	0.012	B	0.25759	0.063	T	0.69789	-0.5050	10	0.09084	T	0.74	.	14.1677	0.65488	0.0:0.8545:0.1455:0.0	.	616	Q96NR3	PTHD1_HUMAN	F	616	ENSP00000368666:S616F	ENSP00000368666:S616F	S	+	2	0	PTCHD1	23321403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.251000	0.43187	2.327000	0.79052	0.600000	0.82982	TCC	PTCHD1	-	pfam_Patched		0.388	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	C	NM_173495		23411482	1	no_errors	ENST00000379361	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23411482	C	T	23411482	3	4	151	1	0	0	0	0	1	0	0	0	12759	855	30	1	1857	1	PTCHD1	23	23411482	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5667227	23411482	131859078	901	25534										
TAB3	257397	genome.wustl.edu	37	chrX	30872550	30872550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gttgactagatatccctcttGaaggagaacttgaaggtggc	12	7	1	5			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:30872550G>A	ENST00000378933.1	-	3	1409	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.S411L|TAB3_ENST00000378930.3_Missense_Mutation_p.S411L|TAB3_ENST00000288422.2_Missense_Mutation_p.S411L	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	411	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TATCCCTCTTGAAGGAGAACT	0.428																																					Pancreas(164;1598 1985 29022 43301 49529)												0													229	197	208					X																	30872550		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1232C>T	X.37:g.30872550G>A	ENSP00000368215:p.Ser411Leu		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S411L	ENST00000378933.1	37	c.1232	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187380	0.38609	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.83	4.32	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	L	0.29908	0.895	0.52099	D	0.999944	B;B	0.23185	0.081;0.048	B;B	0.27887	0.084;0.039	T	0.62044	-0.6937	10	0.51188	T	0.08	-5.5315	13.2503	0.60048	0.0:0.0:0.84:0.16	.	411;411	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	L	411	ENSP00000368215:S411L;ENSP00000368212:S411L;ENSP00000288422:S411L;ENSP00000368214:S411L	ENSP00000288422:S411L	S	-	2	0	TAB3	30782471	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.905000	0.75714	0.960000	0.38005	-0.383000	0.06682	TCA	TAB3	-	NULL		0.428	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30872550	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30872550	G	A	30872550	3	1	151	1	0	0	0	0	1	0	0	0	15527	1294	45	1	930	1	TAB3	23	30872550	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	7461068	30872550	124398010	902	25535										
XK	7504	genome.wustl.edu	37	chrX	37545231	37545231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggagatgaaattcccggcctCggtgctggcgtccgtgttcc	14	12	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:37545231C>T	ENST00000378616.3	+	1	220	c.17C>T	c.(16-18)tCg>tTg	p.S6L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	6					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTCCCGGCCTCGGTGCTGGCG	0.731																																																	0													15	14	15					X																	37545231		2197	4285	6482	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.17C>T	X.37:g.37545231C>T	ENSP00000367879:p.Ser6Leu		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S6L	ENST00000378616.3	37	c.17	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	c	29.4	5.005576	0.93287	.	.	ENSG00000047597	ENST00000378616	T	0.61040	0.14	5.52	4.65	0.58169	.	0.112431	0.64402	D	0.000006	T	0.75613	0.3873	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77376	-0.2611	10	0.49607	T	0.09	2.7337	14.9076	0.70733	0.1444:0.8556:0.0:0.0	.	6	P51811	XK_HUMAN	L	6	ENSP00000367879:S6L	ENSP00000367879:S6L	S	+	2	0	XK	37430150	0.996000	0.38824	0.802000	0.32245	0.953000	0.61014	3.437000	0.52863	1.081000	0.41110	0.502000	0.49764	TCG	XK	-	pfam_Transport_prot_XK		0.731	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	C	NM_021083		37545231	1	no_errors	ENST00000378616	ensembl	human	known	70_37	missense	SNP	0.992	T	T	37545231	C	T	37545231	3	4	151	1	0	0	0	0	1	0	0	0	17462	893	31	1	19	1	XK	23	37545231	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6672681	37545231	117725329	903	25536										
CYBB	1536	genome.wustl.edu	37	chrX	37642818	37642818	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgattctcttgccagtctgtCgaaatctgctgtccttcctc	7	13	3	1	rs137854588		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:37642818C>T	ENST00000378588.4	+	3	284	c.217C>T	c.(217-219)Cga>Tga	p.R73*	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R41*|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	73	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GCCAGTCTGTCGAAATCTGCT	0.498																																																	0			GRCh37	CM910097	CYBB	M	rs137854588						96	77	83					X																	37642818		2202	4300	6502	SO:0001587	stop_gained	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.217C>T	X.37:g.37642818C>T	ENSP00000367851:p.Arg73*		A8K138|Q2PP16	Nonsense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R73*	ENST00000378588.4	37	c.217	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.742388	0.96873	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	.	.	.	5.16	3.29	0.37713	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3613	0.55205	0.3045:0.6955:0.0:0.0	.	.	.	.	X	73;41	.	ENSP00000367851:R73X	R	+	1	2	CYBB	37527762	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.650000	0.46665	0.934000	0.37316	0.415000	0.27848	CGA	CYBB	-	pfam_Fe3_Rdtase_TM_dom		0.498	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	C			37642818	1	no_errors	ENST00000378588	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	37642818	C	T	37642818	4	4	151	1	0	0	0	0	0	1	0	0	4138	876	31	1	227	1	CYBB	23	37642818	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	97587	37642818	117627742	904	25537										
RPGR	6103	genome.wustl.edu	37	chrX	38132722	38132722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	actgctatctgcatcatcaaGcatgtatcctacaattggat	6	10	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:38132722G>A	ENST00000339363.3	-	17	2940	c.2773C>T	c.(2773-2775)Ctt>Ttt	p.L925F	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.L720F|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.L658F			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	925					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCATCATCAAGCATGTATCCT	0.348																																																	0													202	156	171					X																	38132722		2201	4299	6500	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2773C>T	X.37:g.38132722G>A	ENSP00000343671:p.Leu925Phe		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L925F	ENST00000339363.3	37	c.2773		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.465|2.465	-0.323307|-0.323307	0.05350|0.05350	.|.	.|.	ENSG00000156313|ENSG00000156313	ENST00000494707|ENST00000339363;ENST00000309513;ENST00000318842	.|T;T;T	.|0.19250	.|2.21;2.49;2.16	4.86|4.86	-6.34|-6.34	0.01982|0.01982	.|.	.|.	.|.	.|.	.|.	T|T	0.09335|0.09335	0.0230|0.0230	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.21917	.|0.037	T|T	0.40720|0.40720	-0.9548|-0.9548	5|9	.|0.10111	.|T	.|0.7	.|.	5.0215|5.0215	0.14363|0.14363	0.5185:0.0:0.2008:0.2808|0.5185:0.0:0.2008:0.2808	.|.	.|720	.|Q92834-2	.|.	V|F	131|925;658;720	.|ENSP00000343671:L925F;ENSP00000308783:L658F;ENSP00000322219:L720F	.|ENSP00000308783:L658F	A|L	-|-	2|1	0|0	RPGR|RPGR	38017666|38017666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-1.081000|-1.081000	0.03403|0.03403	-1.204000|-1.204000	0.02648|0.02648	0.410000|0.410000	0.27636|0.27636	GCT|CTT	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.348	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38132722	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	missense	SNP	0.000	A	A	38132722	G	A	38132722	3	1	151	1	0	0	0	0	1	0	0	0	13578	971	34	4	297	4	RPGR	23	38132722	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	489904	38132722	117137838	905	25538										
RPGR	6103	genome.wustl.edu	37	chrX	38158229	38158229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cctctctcttcgccgcatacGtgctgatagagtcctctgca	8	15	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:38158229G>A	ENST00000339363.3	-	10	1392	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.R409C|RPGR_ENST00000318842.7_Missense_Mutation_p.R409C|RPGR_ENST00000338898.3_Missense_Mutation_p.R409C|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.R409C			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	409					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGCCGCATACGTGCTGATAGA	0.378																																																	0													85	72	76					X																	38158229		2202	4300	6502	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1225C>T	X.37:g.38158229G>A	ENSP00000343671:p.Arg409Cys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R409C	ENST00000339363.3	37	c.1225		X	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316859	0.40996	.	.	ENSG00000156313	ENST00000339363;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.56611	0.65;0.45;0.87;0.84;0.65	5.28	4.33	0.51752	.	0.000000	0.64402	D	0.000001	T	0.71821	0.3385	M	0.76328	2.33	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76631	-0.2888	10	0.87932	D	0	.	15.3864	0.74706	0.0:0.0:0.8502:0.1498	.	409;409	E9PE28;Q92834-2	.;.	C	409	ENSP00000343671:R409C;ENSP00000340208:R409C;ENSP00000322219:R409C;ENSP00000339531:R409C;ENSP00000367766:R409C	ENSP00000322219:R409C	R	-	1	0	RPGR	38043173	1.000000	0.71417	0.057000	0.19452	0.003000	0.03518	6.399000	0.73248	2.215000	0.71742	0.590000	0.80494	CGT	RPGR	-	NULL		0.378	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38158229	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	missense	SNP	0.952	A	A	38158229	G	A	38158229	3	1	151	1	0	0	0	0	1	0	0	0	13578	1145	40	2	2816	2	RPGR	23	38158229	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	25507	38158229	117112331	906	25539										
MED14	9282	genome.wustl.edu	37	chrX	40541888	40541888	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgcaaattccaacacacactCatataatcgtgcaatgctat	4	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:40541888C>G	ENST00000324817.1	-	18	2450	c.2332G>C	c.(2332-2334)Gag>Cag	p.E778Q	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	778	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACACACACTCATATAATCGT	0.363																																																	0													81	56	64					X																	40541888		2201	4296	6497	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2332G>C	X.37:g.40541888C>G	ENSP00000323720:p.Glu778Gln		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.E778Q	ENST00000324817.1	37	c.2332	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294410	0.40594	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.76	5.76	0.90799	.	0.092861	0.64402	D	0.000001	T	0.39600	0.1084	N	0.08118	0	0.52099	D	0.999947	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	9	0.17369	T	0.5	.	18.9488	0.92632	0.0:1.0:0.0:0.0	.	778	O60244	MED14_HUMAN	Q	778	.	ENSP00000323720:E778Q	E	-	1	0	MED14	40426832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.919000	0.70005	2.423000	0.82170	0.600000	0.82982	GAG	MED14	-	NULL		0.363	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	C	NM_004229		40541888	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40541888	C	G	40541888	3	3	151	1	0	0	0	0	1	0	0	0	9455	835	29	1	2088	1	MED14	23	40541888	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	2383659	40541888	114728672	907	25540										
SYN1	6853	genome.wustl.edu	37	chrX	47432361	47432361	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggcctgggcggggctggctCtggaaggttgaaggcattgg	21	7	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:47432361C>G	ENST00000295987.7	-	13	2144	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	SYN1_ENST00000340666.4_Splice_Site	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	674	E.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGGGCTGGCTCTGGAAGGTTG	0.597																																																	0													81	72	75					X																	47432361		2203	4300	6503	SO:0001583	missense	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.2020G>C	X.37:g.47432361C>G	ENSP00000295987:p.Glu674Gln		B1AJQ1|O75825|Q5H9A9	Splice_Site	SNP	-	e13-1	ENST00000295987.7	37	c.1983-1	CCDS14280.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541778|3.541778	0.65198|0.65198	.|.	.|.	ENSG00000008056|ENSG00000008056	ENST00000340666|ENST00000295987	.|T	.|0.27104	.|1.69	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.316889	.|0.20462	.|N	.|0.091872	.|T	.|0.28566	.|0.0707	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.45044	.|0.849	.|B	.|0.42163	.|0.378	.|T	.|0.09143	.|-1.0688	.|9	.|0.66056	.|D	.|0.02	.|-12.581	14.6082|14.6082	0.68495|0.68495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|674	.|P17600	.|SYN1_HUMAN	.|Q	-1|674	.|ENSP00000295987:E674Q	.|ENSP00000295987:E674Q	.|E	-|-	.|1	.|0	SYN1|SYN1	47317305|47317305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.901000|6.901000	0.75693|0.75693	2.118000|2.118000	0.64928|0.64928	0.538000|0.538000	0.68166|0.68166	.|GAG	SYN1	-	-		0.597	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	C	NM_006950		47432361	-1	no_errors	ENST00000340666	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	47432361	C	G	47432361	3	3	151	1	0	0	0	0	1	0	0	0	15470	927	32	1	101	1	SYN1	23	47432361	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6890473	47432361	107838199	908	25541										
GPKOW	27238	genome.wustl.edu	37	chrX	48976168	48976168	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taattagcctcctctggcacCtacaggttcaggtagaggaa	10	10	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:48976168C>A	ENST00000156109.5	-	4	535		c.e4-1			NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCTCTGGCACCTACAGGTTCA	0.612																																																	0													37	31	33					X																	48976168		2202	4300	6502	SO:0001630	splice_region_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.457-1G>T	X.37:g.48976168C>A			Q59EK5|Q9BQA8	Splice_Site	SNP	-	e4-1	ENST00000156109.5	37	c.457-1	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253169	0.22965	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.43632	D	0.996021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2941	0.49267	0.1828:0.8172:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPKOW	48863112	0.996000	0.38824	0.087000	0.20705	0.023000	0.10783	1.527000	0.35975	2.229000	0.72834	0.509000	0.49947	.	GPKOW	-	-		0.612	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698	Intron	48976168	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	splice_site	SNP	0.130	A	A	48976168	C	A	48976168	5	1	151	1	0	0	0	0	0	0	1	0	6632	695	24	4	1006	4	GPKOW	23	48976168	Splice_Site	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1543807	48976168	106294392	909	25542										
SHROOM4	57477	genome.wustl.edu	37	chrX	50377022	50377022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gcctctggccagggcttattCgtccctctaagcctgtccta	9	15	2	0	rs373712390		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:50377022C>T	ENST00000289292.7	-	4	2334	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R568Q|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R684Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	684					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGGCTTATTCGTCCCTCTAA	0.557																																																	0								C	GLN/ARG	0,3835		0,0,0,1632,571	42	36	38		2051	-9.7	0	X		38	1,6727		0,0,1,2428,1871	no	missense	SHROOM4	NM_020717.3	43	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	684/1494	50377022	1,10562	2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2051G>A	X.37:g.50377022C>T	ENSP00000289292:p.Arg684Gln		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R684Q	ENST00000289292.7	37	c.2051	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908138	0.17833	0.0	1.49E-4	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.16324	2.78;2.78;2.35	5.58	-9.69	0.00524	.	1.373440	0.04617	N	0.401254	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.30592	-0.9973	10	0.22109	T	0.4	.	12.7489	0.57298	0.0:0.6255:0.2471:0.1275	.	684	Q9ULL8	SHRM4_HUMAN	Q	684;684;568	ENSP00000289292:R684Q;ENSP00000365188:R684Q;ENSP00000421450:R568Q	ENSP00000289292:R684Q	R	-	2	0	SHROOM4	50393762	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-2.788000	0.00768	-1.636000	0.01533	-0.340000	0.08031	CGA	SHROOM4	-	NULL		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50377022	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	0.000	T	T	50377022	C	T	50377022	3	4	151	1	0	0	0	0	1	0	0	0	14326	884	31	1	2454	1	SHROOM4	23	50377022	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1400854	50377022	104893538	910	25543										
MAGED1	9500	genome.wustl.edu	37	chrX	51639896	51639896	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gaatccacctggatggcagaCtccacctggatggcagaccc	11	14	0	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:51639896C>G	ENST00000375722.1	+	4	1397	c.1145C>G	c.(1144-1146)aCt>aGt	p.T382S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.T382S|MAGED1_ENST00000375695.2_Missense_Mutation_p.T438S|MAGED1_ENST00000326587.7_Missense_Mutation_p.T382S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	382	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGATGGCAGACTCCACCTGGA	0.637										Multiple Myeloma(10;0.10)																																							0													26	23	24					X																	51639896		2200	4300	6500	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1145C>G	X.37:g.51639896C>G	ENSP00000364874:p.Thr382Ser		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T438S	ENST00000375722.1	37	c.1313	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	0.856	-0.737030	0.03111	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.84	2.94	0.34122	.	0.699234	0.11811	N	0.527175	T	0.18383	0.0441	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.18935	-1.0321	10	0.07813	T	0.8	.	10.5793	0.45246	0.0:0.7983:0.2016:0.0	.	438;382	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	382;382;382;438	ENSP00000364927:T382S;ENSP00000364874:T382S;ENSP00000325333:T382S;ENSP00000364847:T438S	ENSP00000325333:T382S	T	+	2	0	MAGED1	51656636	0.006000	0.16342	0.828000	0.32881	0.665000	0.39181	0.145000	0.16157	0.702000	0.31825	0.284000	0.19432	ACT	MAGED1	-	NULL		0.637	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	C	NM_001005332		51639896	1	no_errors	ENST00000375695	ensembl	human	known	70_37	missense	SNP	0.001	G	G	51639896	C	G	51639896	3	3	151	1	0	0	0	0	1	0	0	0	9206	565	20	4	1327	4	MAGED1	23	51639896	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1262874	51639896	103630664	911	25544										
MAGED1	9500	genome.wustl.edu	37	chrX	51644958	51644958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttgccggtcccattattggtCctggtggtacagccagtgcc	12	12	0	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:51644958C>T	ENST00000375722.1	+	12	2521	c.2269C>T	c.(2269-2271)Cct>Tct	p.P757S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.P757S|MAGED1_ENST00000375695.2_Missense_Mutation_p.P813S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P757S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	757					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTATTGGTCCTGGTGGTAC	0.522										Multiple Myeloma(10;0.10)																																							0													85	75	79					X																	51644958		2203	4300	6503	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2269C>T	X.37:g.51644958C>T	ENSP00000364874:p.Pro757Ser		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P813S	ENST00000375722.1	37	c.2437	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	4.427	0.079018	0.08533	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.03860	3.86;3.86;3.86;3.78	4.07	3.21	0.36854	.	0.158994	0.30193	N	0.010183	T	0.02193	0.0068	N	0.08118	0	0.30027	N	0.813778	B;B	0.21753	0.06;0.006	B;B	0.20767	0.031;0.004	T	0.39921	-0.9590	10	0.09843	T	0.71	.	6.7713	0.23594	0.0:0.8711:0.0:0.1289	.	813;757	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	757;757;757;813	ENSP00000364927:P757S;ENSP00000364874:P757S;ENSP00000325333:P757S;ENSP00000364847:P813S	ENSP00000325333:P757S	P	+	1	0	MAGED1	51661698	0.967000	0.33354	0.840000	0.33206	0.024000	0.10985	1.520000	0.35899	1.064000	0.40671	0.600000	0.82982	CCT	MAGED1	-	NULL		0.522	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	C	NM_001005332		51644958	1	no_errors	ENST00000375695	ensembl	human	known	70_37	missense	SNP	0.774	T	T	51644958	C	T	51644958	3	4	151	1	0	0	0	0	1	0	0	0	9206	855	30	1	2483	1	MAGED1	23	51644958	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5062	51644958	103625602	912	25545										
SMC1A	8243	genome.wustl.edu	37	chrX	53439973	53439973	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tctcgatctccttgttctttGaggccagttccttgttgagc	9	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:53439973G>C	ENST00000322213.4	-	5	858	c.731C>G	c.(730-732)tCa>tGa	p.S244*	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	244					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						cttgttcttTGAGGCCAGTTC	0.488																																																	0													148	113	124					X																	53439973		2203	4300	6503	SO:0001587	stop_gained	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.731C>G	X.37:g.53439973G>C	ENSP00000323421:p.Ser244*		O14995|Q16351|Q2M228	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.S244*	ENST00000322213.4	37	c.731	CCDS14352.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.423736|2.423736	0.43020|0.43020	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000428014|ENST00000322213	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|0.528673	.|0.19743	.|N	.|0.107069	T|.	0.58652|.	0.2137|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55829|.	-0.8079|.	4|.	.|0.33940	.|T	.|0.23	.|.	9.3059|9.3059	0.37874|0.37874	0.106:0.0:0.894:0.0|0.106:0.0:0.894:0.0	.|.	.|.	.|.	.|.	E|X	249|244	.|.	.|ENSP00000323421:S244X	Q|S	-|-	1|2	0|0	SMC1A|SMC1A	53456698|53456698	0.673000|0.673000	0.27539|0.27539	0.999000|0.999000	0.59377|0.59377	0.722000|0.722000	0.41435|0.41435	2.634000|2.634000	0.46528|0.46528	1.941000|1.941000	0.56285|0.56285	0.436000|0.436000	0.28706|0.28706	CAA|TCA	SMC1A	-	pfam_RecF/RecN/SMC,prints_Tropomyosin		0.488	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	G	NM_006306		53439973	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	nonsense	SNP	0.977	C	C	53439973	G	C	53439973	4	2	151	1	0	0	0	0	0	1	0	0	14811	1294	45	1	3054	1	SMC1A	23	53439973	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1795015	53439973	101830587	913	25546										
WNK3	65267	genome.wustl.edu	37	chrX	54264792	54264792	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aacctggaaccgaccccgctGaaatgatccactcatcgctt	7	15	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:54264792G>A	ENST00000375159.2	-	18	3996	c.3997C>T	c.(3997-3999)Cag>Tag	p.Q1333*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.Q1333*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q1286*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1333					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CGACCCCGCTGAAATGATCCA	0.443																																																	0													104	89	95					X																	54264792		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3997C>T	X.37:g.54264792G>A	ENSP00000364301:p.Gln1333*		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1333*	ENST00000375159.2	37	c.3997	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.395824	0.99158	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2791	11.6912	0.51516	0.0:0.0:0.8229:0.1771	.	.	.	.	X	1286;1333;1333	.	ENSP00000346667:Q1333X	Q	-	1	0	WNK3	54281517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.358000	0.52284	2.144000	0.66660	0.600000	0.82982	CAG	WNK3	-	NULL		0.443	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54264792	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	54264792	G	A	54264792	4	1	151	1	0	0	0	0	0	1	0	0	17410	1299	45	1	1429	1	WNK3	23	54264792	Nonsense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	824819	54264792	101005768	914	25547										
PFKFB1	5207	genome.wustl.edu	37	chrX	54984742	54984742	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	taactggtggtccttaccctGatgttttctgcaattatgcc	8	10	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:54984742G>A	ENST00000375006.3	-	6	583	c.513C>T	c.(511-513)atC>atT	p.I171I	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.I106I	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	171	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCCTTACCCTGATGTTTTCTG	0.408																																																	0													129	106	113					X																	54984742		2203	4300	6503	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.513C>T	X.37:g.54984742G>A			B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.I171	ENST00000375006.3	37	c.513	CCDS14364.1	X																																																																																			PFKFB1	-	pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.408	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	G			54984742	-1	no_errors	ENST00000375006	ensembl	human	known	70_37	silent	SNP	0.997	A	A	54984742	G	A	54984742	2	1	151	1	0	0	0	0	0	0	0	1	11784	1280	45	1		1	PFKFB1	23	54984742	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	719950	54984742	100285818	915	25548										
FAM123B	139285	genome.wustl.edu	37	chrX	63412870	63412870	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gggccatgggctgcttcactCaggccatcgtgggtcttgct	14	12	3	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:63412870C>T	ENST00000330258.3	-	2	569	c.297G>A	c.(295-297)ctG>ctA	p.L99L	AMER1_ENST00000403336.1_Silent_p.L99L|AMER1_ENST00000374869.3_Silent_p.L99L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	99					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.L99L(1)									CTGCTTCACTCAGGCCATCGT	0.542																																																	68	Whole gene deletion(67)|Substitution - coding silent(1)	kidney(65)|ovary(2)|large_intestine(1)											114	83	94					X																	63412870		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.297G>A	X.37:g.63412870C>T			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.L99	ENST00000330258.3	37	c.297	CCDS14377.2	X																																																																																			FAM123B	-	pfam_Uncharacterised_FAM123		0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	C	NM_152424		63412870	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	silent	SNP	0.907	T	T	63412870	C	T	63412870	2	4	151	1	0	0	0	0	0	0	0	1	5438	813	29	1		1	FAM123B	23	63412870	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8428128	63412870	91857690	916	25549										
AR	367	genome.wustl.edu	37	chrX	66765338	66765338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggatgaggaacagcaaccttCacagccgcagtcggccctgg	13	13	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:66765338C>T	ENST00000374690.3	+	1	874	c.350C>T	c.(349-351)tCa>tTa	p.S117L	AR_ENST00000504326.1_Missense_Mutation_p.S117L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.S117L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	115	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAGCAACCTTCACAGCCGCAG	0.677									Androgen Insensitivity Syndrome																																								0													24	18	20					X																	66765338		2196	4284	6480	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.350C>T	X.37:g.66765338C>T	ENSP00000363822:p.Ser117Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.S117L	ENST00000374690.3	37	c.350	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	8.546	0.874329	0.17395	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;T;D	0.95518	-3.73;-0.26;-3.73	5.34	4.48	0.54585	.	0.612210	0.15129	N	0.278946	D	0.94506	0.8231	M	0.82132	2.575	0.26510	N	0.974618	B;B;B	0.34103	0.005;0.006;0.437	B;B;B	0.40134	0.044;0.062;0.32	D	0.86231	0.1637	10	0.10636	T	0.68	.	8.4736	0.32999	0.0:0.8945:0.0:0.1055	.	117;117;115	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	117;117;117;109	ENSP00000363822:S117L;ENSP00000421155:S117L;ENSP00000379359:S117L	ENSP00000363822:S117L	S	+	2	0	AR	66682063	1.000000	0.71417	0.487000	0.27428	0.028000	0.11728	1.087000	0.30865	1.221000	0.43506	0.597000	0.82753	TCA	AR	-	pfam_Andrgn_rcpt		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66765338	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	0.736	T	T	66765338	C	T	66765338	3	4	151	1	0	0	0	0	1	0	0	0	836	838	29	1	352	1	AR	23	66765338	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	3352468	66765338	88505222	917	25550										
STARD8	9754	genome.wustl.edu	37	chrX	67941568	67941568	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttccacctcaatgtctctaaGaaggatagcccctctcccag	6	15	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:67941568G>C	ENST00000252336.6	+	9	2571	c.2199G>C	c.(2197-2199)aaG>aaC	p.K733N	STARD8_ENST00000374597.3_Missense_Mutation_p.K733N|STARD8_ENST00000374599.3_Missense_Mutation_p.K813N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	733	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTCTCTAAGAAGGATAGCC	0.557																																																	0													62	55	58					X																	67941568		2203	4300	6503	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2199G>C	X.37:g.67941568G>C	ENSP00000252336:p.Lys733Asn		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.K813N	ENST00000252336.6	37	c.2439	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228620	0.58777	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08370	3.1;3.1;3.1	3.47	2.6	0.31112	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.26195	0.0639	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.76494	0.975;0.999	D;D	0.79108	0.941;0.992	T	0.00995	-1.1487	10	0.49607	T	0.09	.	8.174	0.31270	0.1262:0.0:0.8738:0.0	.	813;733	Q92502-2;Q92502	.;STAR8_HUMAN	N	733;813;733	ENSP00000252336:K733N;ENSP00000363727:K813N;ENSP00000363725:K733N	ENSP00000252336:K733N	K	+	3	2	STARD8	67858293	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.326000	0.43849	0.844000	0.35094	0.513000	0.50165	AAG	STARD8	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.557	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	G	NM_014725		67941568	1	no_errors	ENST00000374599	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67941568	G	C	67941568	3	2	151	1	0	0	0	0	1	0	0	0	15293	933	33	1	2477	1	STARD8	23	67941568	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1176230	67941568	87328992	918	25551										
DGAT2L6	347516	genome.wustl.edu	37	chrX	69420191	69420191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctctcttttggtgtcttcatCaactttgccactgaggccac	7	13	4	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:69420191C>G	ENST00000333026.3	+	4	454	c.354C>G	c.(352-354)atC>atG	p.I118M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	118					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTGTCTTCATCAACTTTGCCA	0.463																																																	0													191	140	157					X																	69420191		2203	4300	6503	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.354C>G	X.37:g.69420191C>G	ENSP00000328036:p.Ile118Met		Q6IEE2	Missense_Mutation	SNP	pfam_DAGAT	p.I118M	ENST00000333026.3	37	c.354	CCDS14397.1	X	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267872	0.59540	.	.	ENSG00000184210	ENST00000333026	D	0.94497	-3.44	5.35	2.64	0.31445	.	0.153864	0.44902	D	0.000415	D	0.93403	0.7896	L	0.49640	1.575	0.39382	D	0.966269	P	0.48834	0.916	P	0.54270	0.747	D	0.90045	0.4145	10	0.38643	T	0.18	-6.4929	6.6869	0.23150	0.0:0.614:0.0:0.386	.	118	Q6ZPD8	DG2L6_HUMAN	M	118	ENSP00000328036:I118M	ENSP00000328036:I118M	I	+	3	3	DGAT2L6	69336916	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.284000	0.33249	0.242000	0.21303	0.600000	0.82982	ATC	DGAT2L6	-	pfam_DAGAT		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	C	NM_198512		69420191	1	no_errors	ENST00000333026	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69420191	C	G	69420191	3	3	151	1	0	0	0	0	1	0	0	0	4469	816	29	1	368	1	DGAT2L6	23	69420191	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1478623	69420191	85850369	919	25552										
FOXO4	4303	genome.wustl.edu	37	chrX	70320631	70320631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	gtggatgctgaaccctgaggGaggcaagagcggcaaagccc	16	10	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:70320631G>A	ENST00000374259.3	+	2	883	c.551G>A	c.(550-552)gGa>gAa	p.G184E	FOXO4_ENST00000341558.3_Missense_Mutation_p.G129E	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	184					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AACCCTGAGGGAGGCAAGAGC	0.612											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30	31	31					X																	70320631		2039	4180	6219	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.551G>A	X.37:g.70320631G>A	ENSP00000363377:p.Gly184Glu	1121	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G184E	ENST00000374259.3	37	c.551	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	g	16.94	3.260076	0.59321	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95238	-3.65;-3.65	4.97	4.1	0.47936	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.193174	0.44902	N	0.000411	D	0.95149	0.8428	L	0.44542	1.39	0.80722	D	1	B;B;D	0.61080	0.332;0.249;0.989	B;B;D	0.71870	0.346;0.135;0.975	D	0.94452	0.7668	10	0.51188	T	0.08	-37.5392	11.7958	0.52100	0.0868:0.0:0.9132:0.0	.	184;129;184	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	E	184;129	ENSP00000363377:G184E;ENSP00000342209:G129E	ENSP00000342209:G129E	G	+	2	0	FOXO4	70237356	1.000000	0.71417	0.997000	0.53966	0.671000	0.39405	9.175000	0.94831	1.090000	0.41315	-0.221000	0.12465	GGA	FOXO4	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.612	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	G	NM_005938		70320631	1	no_errors	ENST00000374259	ensembl	human	known	70_37	missense	SNP	0.999	A	A	70320631	G	A	70320631	3	1	151	1	0	0	0	0	1	0	0	0	6043	1174	41	1	557	1	FOXO4	23	70320631	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	900440	70320631	84949929	920	25553										
MED12	9968	genome.wustl.edu	37	chrX	70341573	70341573	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accacccctgctcctcagccCccaactagcagcacaccctc	4	23	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:70341573C>G	ENST00000374080.3	+	7	1040	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	MED12_ENST00000333646.6_Silent_p.P336P|MED12_ENST00000374102.1_Silent_p.P336P			Q93074	MED12_HUMAN	mediator complex subunit 12	336					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCCTCAGCCCCCAACTAGCA	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													92	98	96					X																	70341573		2126	4218	6344	SO:0001819	synonymous_variant	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1008C>G	X.37:g.70341573C>G			O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.P336	ENST00000374080.3	37	c.1008	CCDS43970.1	X																																																																																			MED12	-	pfam_Mediator_Med12_LCEWAV		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70341573	1	no_errors	ENST00000333646	ensembl	human	known	70_37	silent	SNP	0.819	G	G	70341573	C	G	70341573	2	3	151	1	0	0	0	0	0	0	0	1	9451	610	22	4		4	MED12	23	70341573	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	20942	70341573	84928987	921	25554										
TBX22	50945	genome.wustl.edu	37	chrX	79286502	79286502	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ttctctatgccatctagactGataagtggttccaaccatct	6	11	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:79286502G>C	ENST00000373294.5	+	8	1483	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	TBX22_ENST00000373296.3_Silent_p.L485L|TBX22_ENST00000442340.1_Silent_p.L365L|TBX22_ENST00000373291.1_Silent_p.L365L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	485					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATCTAGACTGATAAGTGGTT	0.373																																																	0													83	74	77					X																	79286502		2203	4300	6503	SO:0001819	synonymous_variant	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1455G>C	X.37:g.79286502G>C			Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L485	ENST00000373294.5	37	c.1455	CCDS14445.1	X																																																																																			TBX22	-	NULL		0.373	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	G	NM_016954		79286502	1	no_errors	ENST00000373294	ensembl	human	known	70_37	silent	SNP	0.951	C	C	79286502	G	C	79286502	2	2	151	1	0	0	0	0	0	0	0	1	15688	1277	45	1		1	TBX22	23	79286502	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	8944929	79286502	75984058	922	25555										
BRWD3	254065	genome.wustl.edu	37	chrX	79999748	79999748	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tttttactaaacagtcatctGaaccctatagtaacaaaagg	5	8	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:79999748G>A	ENST00000373275.4	-	8	812	c.596C>T	c.(595-597)tCa>tTa	p.S199L		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	199					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACAGTCATCTGAACCCTATAG	0.358																																																	0													69	64	66					X																	79999748		2203	4299	6502	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.596C>T	X.37:g.79999748G>A	ENSP00000362372:p.Ser199Leu		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S199L	ENST00000373275.4	37	c.596	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690460	0.88735	.	.	ENSG00000165288	ENST00000373275	T	0.74421	-0.84	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.162944	0.42053	D	0.000776	D	0.90899	0.7140	H	0.97587	4.035	0.58432	D	0.999997	D	0.76494	0.999	D	0.74348	0.983	D	0.94405	0.7626	9	.	.	.	-7.9495	16.6563	0.85229	0.0:0.0:1.0:0.0	.	199	Q6RI45	BRWD3_HUMAN	L	199	ENSP00000362372:S199L	.	S	-	2	0	BRWD3	79886404	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.657000	0.98554	2.193000	0.70182	0.415000	0.27848	TCA	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79999748	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79999748	G	A	79999748	3	1	151	1	0	0	0	0	1	0	0	0	1529	1294	45	1	4948	1	BRWD3	23	79999748	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	713246	79999748	75270812	923	25556										
DACH2	117154	genome.wustl.edu	37	chrX	85404062	85404062	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggggtaaaccgctgcaaactCatcaccaggaaagacttcga	10	11	2	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:85404062C>G	ENST00000373125.4	+	1	438	c.438C>G	c.(436-438)ctC>ctG	p.L146L	DACH2_ENST00000373131.1_Silent_p.L146L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	146	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCTGCAAACTCATCACCAGGA	0.557																																																	0													48	49	49					X																	85404062		2203	4300	6503	SO:0001819	synonymous_variant	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.438C>G	X.37:g.85404062C>G			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.L146	ENST00000373125.4	37	c.438	CCDS14455.1	X																																																																																			DACH2	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.557	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	C	NM_053281		85404062	1	no_errors	ENST00000373125	ensembl	human	known	70_37	silent	SNP	1.000	G	G	85404062	C	G	85404062	2	3	151	1	0	0	0	0	0	0	0	1	4226	813	29	1		1	DACH2	23	85404062	Silent	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5404314	85404062	69866498	924	25557										
KLHL4	56062	genome.wustl.edu	37	chrX	86873003	86873003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cttgtcttctgcagctgactCaggtcattgatgtttgctcc	9	11	4	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:86873003C>G	ENST00000373119.4	+	4	941	c.796C>G	c.(796-798)Cag>Gag	p.Q266E	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q266E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	266						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTGACTCAGGTCATTGA	0.418																																																	0													98	80	86					X																	86873003		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.796C>G	X.37:g.86873003C>G	ENSP00000362211:p.Gln266Glu		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q266E	ENST00000373119.4	37	c.796	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410367	0.25465	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66099	-0.19;-0.19	4.74	4.74	0.60224	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.207411	0.41712	D	0.000832	T	0.36413	0.0966	N	0.03983	-0.305	0.53005	D	0.999967	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.007	T	0.33599	-0.9862	10	0.06494	T	0.89	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	266;266	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	266	ENSP00000362211:Q266E;ENSP00000362206:Q266E	ENSP00000362206:Q266E	Q	+	1	0	KLHL4	86759659	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.460000	0.66691	1.960000	0.56953	0.502000	0.49764	CAG	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	C			86873003	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86873003	C	G	86873003	3	3	151	1	0	0	0	0	1	0	0	0	8411	827	29	1	810	1	KLHL4	23	86873003	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1468941	86873003	68397557	925	25558										
ARMCX1	51309	genome.wustl.edu	37	chrX	100808136	100808136	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccaaacttcagggtgattcaGaggtcaagcctgaggtgagt	13	8	3	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:100808136G>C	ENST00000372829.3	+	4	594	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	75						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGGTGATTCAGAGGTCAAGCC	0.562																																																	0													72	63	66					X																	100808136		2203	4300	6503	SO:0001583	missense	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.223G>C	X.37:g.100808136G>C	ENSP00000361917:p.Glu75Gln		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E75Q	ENST00000372829.3	37	c.223	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	a	6.314	0.425957	0.11987	.	.	ENSG00000126947	ENST00000372829	T	0.25085	1.82	3.62	1.22	0.21188	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.31861	-0.9928	9	0.28530	T	0.3	1.7977	4.5247	0.11976	0.5968:0.0:0.4032:0.0	.	75	Q9P291	ARMX1_HUMAN	Q	75	ENSP00000361917:E75Q	ENSP00000361917:E75Q	E	+	1	0	ARMCX1	100694792	0.043000	0.20138	0.002000	0.10522	0.019000	0.09904	0.507000	0.22675	0.124000	0.18369	-0.562000	0.04174	GAG	ARMCX1	-	NULL		0.562	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	G	NM_016608		100808136	1	no_errors	ENST00000372829	ensembl	human	known	70_37	missense	SNP	0.002	C	C	100808136	G	C	100808136	3	2	151	1	0	0	0	0	1	0	0	0	960	943	33	1	225	1	ARMCX1	23	100808136	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	13935133	100808136	54462424	926	25559										
AMMECR1	9949	genome.wustl.edu	37	chrX	109561025	109561025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tagaaagtagggtccccactCcgcagctcggaggtggcgac	14	12	0	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:109561025C>G	ENST00000262844.5	-	1	442	c.275G>C	c.(274-276)gGa>gCa	p.G92A	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.G92A|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	92										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCCCCACTCCGCAGCTCGG	0.721																																																	0													25	23	24					X																	109561025		2093	4103	6196	SO:0001583	missense	9949			AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.275G>C	X.37:g.109561025C>G	ENSP00000262844:p.Gly92Ala		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	p.G92A	ENST00000262844.5	37	c.275	CCDS14551.1	X	.	.	.	.	.	.	.	.	.	.	c	13.75	2.329229	0.41197	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	4.4	2.45	0.29901	.	0.173944	0.49916	D	0.000128	T	0.15003	0.0362	N	0.00926	-1.1	0.80722	D	1	B;B	0.23854	0.092;0.055	B;B	0.27608	0.081;0.037	T	0.03335	-1.1047	8	.	.	.	-21.6101	4.6705	0.12687	0.1759:0.6193:0.0:0.2047	.	92;92	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	A	92	.	.	G	-	2	0	AMMECR1	109447681	0.631000	0.27164	1.000000	0.80357	0.913000	0.54294	-0.441000	0.06879	0.792000	0.33850	0.271000	0.19318	GGA	AMMECR1	-	NULL		0.721	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMMECR1	HGNC	protein_coding	OTTHUMT00000057907.1	C			109561025	-1	no_errors	ENST00000262844	ensembl	human	known	70_37	missense	SNP	1.000	G	G	109561025	C	G	109561025	3	3	151	1	0	0	0	0	1	0	0	0	578	855	30	1	750	1	AMMECR1	23	109561025	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	8752889	109561025	45709535	927	25560										
ALG13	79868	genome.wustl.edu	37	chrX	110988027	110988027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctcctcctcctcctcctcctCctcctcctgctcttgatgtg	4	21	1	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:110988027C>T	ENST00000394780.3	+	24	2839	c.2827C>T	c.(2827-2829)Cct>Tct	p.P943S	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	943	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						tcctcctcctcctcctcctgc	0.572																																																	0													33	25	28					X																	110988027		1568	3575	5143	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2827C>T	X.37:g.110988027C>T	ENSP00000378260:p.Pro943Ser		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P943S	ENST00000394780.3	37	c.2827	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.637031	0.00806	.	.	ENSG00000101901	ENST00000394780	T	0.08720	3.06	3.62	1.64	0.23874	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.18871	0.023;0.01	T	0.46373	-0.9196	9	0.07813	T	0.8	-0.3057	5.748	0.18130	0.0:0.6784:0.1966:0.125	.	865;943	Q9NP73-3;Q9NP73	.;ALG13_HUMAN	S	943	ENSP00000378260:P943S	ENSP00000378260:P943S	P	+	1	0	ALG13	110874683	0.004000	0.15560	0.008000	0.14137	0.028000	0.11728	0.324000	0.19610	0.695000	0.31675	0.529000	0.55759	CCT	ALG13	-	NULL		0.572	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	C	NM_018466		110988027	1	no_errors	ENST00000394780	ensembl	human	putative	70_37	missense	SNP	0.003	T	T	110988027	C	T	110988027	3	4	151	1	0	0	0	0	1	0	0	0	515	855	30	1	3063	1	ALG13	23	110988027	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	1427002	110988027	44282533	928	25561										
TRPC5	7224	genome.wustl.edu	37	chrX	111155612	111155612	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ctgtggtcatctcgatggttGaggatgatctccagttccct	11	10	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:111155612G>C	ENST00000262839.2	-	3	1725	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	269					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCGATGGTTGAGGATGATCT	0.517																																																	0													213	174	187					X																	111155612		2203	4300	6503	SO:0001819	synonymous_variant	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.807C>G	X.37:g.111155612G>C			B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L269	ENST00000262839.2	37	c.807	CCDS14561.1	X																																																																																			TRPC5	-	tigrfam_TRP_channel		0.517	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	G	NM_012471		111155612	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	silent	SNP	1.000	C	C	111155612	G	C	111155612	2	2	151	1	0	0	0	0	0	0	0	1	16613	1277	45	1		1	TRPC5	23	111155612	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	167585	111155612	44114948	929	25562										
DOCK11	139818	genome.wustl.edu	37	chrX	117718726	117718726	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcaaagatactcaaggctctCttgatctggatgggagattt	10	7	4	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:117718726C>G	ENST00000276202.7	+	15	1687	c.1624C>G	c.(1624-1626)Ctt>Gtt	p.L542V	DOCK11_ENST00000276204.6_Missense_Mutation_p.L542V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	542					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAAGGCTCTCTTGATCTGGA	0.318																																																	0													72	71	72					X																	117718726		2203	4299	6502	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1624C>G	X.37:g.117718726C>G	ENSP00000276202:p.Leu542Val		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L542V	ENST00000276202.7	37	c.1624	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	9.217	1.032465	0.19590	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.02140	4.43;4.43	5.24	3.47	0.39725	.	0.000000	0.64402	D	0.000001	T	0.06325	0.0163	L	0.61036	1.89	0.46701	D	0.999161	P;D	0.60575	0.942;0.988	P;P	0.54401	0.541;0.751	T	0.30794	-0.9966	10	0.38643	T	0.18	-6.5124	10.6885	0.45856	0.0:0.8647:0.0:0.1353	.	542;542	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	542	ENSP00000276204:L542V;ENSP00000276202:L542V	ENSP00000276202:L542V	L	+	1	0	DOCK11	117602754	0.553000	0.26513	0.987000	0.45799	0.641000	0.38312	1.073000	0.30691	0.425000	0.26087	0.513000	0.50165	CTT	DOCK11	-	NULL		0.318	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	C	NM_144658		117718726	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	0.909	G	G	117718726	C	G	117718726	3	3	151	1	0	0	0	0	1	0	0	0	4696	913	32	1	1682	1	DOCK11	23	117718726	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	6563114	117718726	37551834	930	25563										
SLC25A5	292	genome.wustl.edu	37	chrX	118604462	118604462	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccgccgcatgatgatgcagtCagggcgcaaaggaagtaagt	14	9	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:118604462C>G	ENST00000317881.8	+	3	841	c.725C>G	c.(724-726)tCa>tGa	p.S242*	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	242					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ATGATGCAGTCAGGGCGCAAA	0.493																																																	0													61	55	57					X																	118604462		2203	4300	6503	SO:0001587	stop_gained	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.725C>G	X.37:g.118604462C>G	ENSP00000360671:p.Ser242*		B2RCV1|O43350	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.S242*	ENST00000317881.8	37	c.725	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	c	36	5.937366	0.97122	.	.	ENSG00000005022	ENST00000317881	.	.	.	4.33	4.33	0.51752	.	0.057947	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	.	.	.	X	242	.	ENSP00000360671:S242X	S	+	2	0	SLC25A5	118488490	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	7.489000	0.81451	2.109000	0.64355	0.525000	0.51046	TCA	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	C	NM_001152		118604462	1	no_errors	ENST00000317881	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	118604462	C	G	118604462	4	3	151	1	0	0	0	0	0	1	0	0	14542	838	29	1	735	1	SLC25A5	23	118604462	Nonsense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	885736	118604462	36666098	931	25564										
ATP1B4	23439	genome.wustl.edu	37	chrX	119513442	119513442	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tcataaatgatgtcatcaatGatcgttttgtgggcagggta	11	5	3	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:119513442G>A	ENST00000218008.3	+	8	1084	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	343					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTCATCAATGATCGTTTTGT	0.453																																																	0													142	112	123					X																	119513442		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.1027G>A	X.37:g.119513442G>A	ENSP00000218008:p.Asp343Asn		Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.D343N	ENST00000218008.3	37	c.1027	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749346	0.89753	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.38722	1.12;1.12;1.12	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.77236	-0.2662	10	0.52906	T	0.07	-12.3043	16.9636	0.86279	0.0:0.0:1.0:0.0	.	300;308;343;339	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	N	343;339;300	ENSP00000218008:D343N;ENSP00000355346:D339N;ENSP00000443334:D300N	ENSP00000218008:D343N	D	+	1	0	ATP1B4	119397470	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.876000	0.92379	2.213000	0.71641	0.600000	0.82982	GAT	ATP1B4	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.453	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1	G	NM_001142447		119513442	1	no_errors	ENST00000218008	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119513442	G	A	119513442	3	1	151	1	0	0	0	0	1	0	0	0	1136	1290	45	1	1057	1	ATP1B4	23	119513442	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	908980	119513442	35757118	932	25565										
USP26	83844	genome.wustl.edu	37	chrX	132159901	132159901	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	caagtagggaattcctgttaGacttctgtagatttaatttt	8	5	1	2			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:132159901G>C	ENST00000511190.1	-	6	2817	c.2348C>G	c.(2347-2349)tCt>tGt	p.S783C	USP26_ENST00000370832.1_Missense_Mutation_p.S783C|USP26_ENST00000406273.1_Missense_Mutation_p.S783C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	783	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTGTTAGACTTCTGTAG	0.413																																					NSCLC(104;342 1621 36940 47097 52632)												0													110	109	109					X																	132159901		2203	4300	6503	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2348C>G	X.37:g.132159901G>C	ENSP00000423390:p.Ser783Cys		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S783C	ENST00000511190.1	37	c.2348	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242903	0.22796	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.75821	-0.97;-0.97;-0.97	3.6	0.421	0.16451	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.665100	0.03936	N	0.286084	T	0.66925	0.2839	N	0.14661	0.345	0.09310	N	1	P	0.35774	0.519	P	0.48677	0.586	T	0.57063	-0.7875	10	0.48119	T	0.1	0.2279	2.0892	0.03653	0.1316:0.182:0.4837:0.2027	.	783	Q9BXU7	UBP26_HUMAN	C	783	ENSP00000359869:S783C;ENSP00000423390:S783C;ENSP00000384360:S783C	ENSP00000359869:S783C	S	-	2	0	USP26	131987567	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.502000	0.22594	-0.026000	0.13895	-0.318000	0.08688	TCT	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132159901	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.000	C	C	132159901	G	C	132159901	3	2	151	1	0	0	0	0	1	0	0	0	17088	942	33	1	396	1	USP26	23	132159901	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	12646459	132159901	23110659	933	25566										
DDX26B	203522	genome.wustl.edu	37	chrX	134713952	134713952	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	aaaactgcagtctctccgtaGatgaccaaaaagacccagta	7	11	1	3	rs527897696		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:134713952G>C	ENST00000370752.4	+	15	2582	c.2248G>C	c.(2248-2250)Gat>Cat	p.D750H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	750										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTCCGTAGATGACCAAAA	0.428																																																	0													91	78	82					X																	134713952		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2248G>C	X.37:g.134713952G>C	ENSP00000359788:p.Asp750His		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.D750H	ENST00000370752.4	37	c.2248	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	3.049	-0.195814	0.06259	.	.	ENSG00000165359	ENST00000370752	T	0.32023	1.47	5.51	3.65	0.41850	.	0.719592	0.14714	N	0.302746	T	0.26340	0.0643	L	0.45137	1.4	0.25501	N	0.98755	B;B	0.32101	0.356;0.0	B;B	0.32624	0.149;0.002	T	0.12528	-1.0544	10	0.38643	T	0.18	0.0096	10.2436	0.43328	0.0791:0.1327:0.7883:0.0	.	750;750	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	H	750	ENSP00000359788:D750H	ENSP00000359788:D750H	D	+	1	0	DDX26B	134541618	0.994000	0.37717	0.028000	0.17463	0.002000	0.02628	2.406000	0.44557	1.226000	0.43582	0.600000	0.82982	GAT	DDX26B	-	NULL		0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	G	NM_182540		134713952	1	no_errors	ENST00000370752	ensembl	human	known	70_37	missense	SNP	0.818	C	C	134713952	G	C	134713952	3	2	151	1	0	0	0	0	1	0	0	0	4358	942	33	1	2306	1	DDX26B	23	134713952	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2554051	134713952	20556608	934	25567										
MAP7D3	79649	genome.wustl.edu	37	chrX	135323395	135323395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	tgataatcatcagcaagtctCctccgttccaaagtacgata	6	11	3	1			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:135323395C>A	ENST00000316077.9	-	5	679	c.459G>T	c.(457-459)agG>agT	p.R153S	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R135S|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R153S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	153					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CAGCAAGTCTCCTCCGTTCCA	0.323																																																	0													59	53	55					X																	135323395		1842	4096	5938	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.459G>T	X.37:g.135323395C>A	ENSP00000318086:p.Arg153Ser		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.R135S	ENST00000316077.9	37	c.405	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.239538	0.01493	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	5.15	1.47	0.22746	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.22346	0.041;0.02;0.023;0.068	B;B;B;B	0.14023	0.004;0.005;0.004;0.01	T	0.49194	-0.8965	9	0.07813	T	0.8	-7.4892	5.8191	0.18518	0.2928:0.1369:0.5704:0.0	.	135;153;153;153	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	S	153;153;135;153	ENSP00000359695:R153S;ENSP00000318086:R153S;ENSP00000359697:R135S;ENSP00000359694:R153S	ENSP00000318086:R153S	R	-	3	2	MAP7D3	135151061	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	1.880000	0.39628	-0.132000	0.11557	-0.381000	0.06696	AGG	MAP7D3	-	NULL		0.323	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	C			135323395	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.009	A	A	135323395	C	A	135323395	3	1	151	1	0	0	0	0	1	0	0	0	9292	854	30	3	2227	3	MAP7D3	23	135323395	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	609443	135323395	19947165	935	25568										
GPR112	139378	genome.wustl.edu	37	chrX	135405122	135405122	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ataacgccctcctgggcagaGaagacatagaccttggactt	10	11	0	3			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:135405122G>C	ENST00000394143.1	+	5	547	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.E23Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E86Q|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	86					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGCAGAGAAGACATAGA	0.448																																																	0													145	133	137					X																	135405122		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.256G>C	X.37:g.135405122G>C	ENSP00000377699:p.Glu86Gln		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E86Q	ENST00000394143.1	37	c.256	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878036	0.51801	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.62498	3.26;3.26;0.02	5.51	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.64000	0.2559	N	0.24115	0.695	0.09310	N	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.53718	-0.8399	9	0.72032	D	0.01	.	7.0551	0.25095	0.0957:0.1712:0.7332:0.0	.	86	Q8IZF6	GP112_HUMAN	Q	86;86;23	ENSP00000377699:E86Q;ENSP00000359686:E86Q;ENSP00000287534:E23Q	ENSP00000287534:E23Q	E	+	1	0	GPR112	135232788	0.101000	0.21875	0.998000	0.56505	0.768000	0.43524	0.759000	0.26461	2.292000	0.77174	0.513000	0.50165	GAA	GPR112	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	G			135405122	1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.842	C	C	135405122	G	C	135405122	3	2	151	1	0	0	0	0	1	0	0	0	6648	943	33	1	262	1	GPR112	23	135405122	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	81727	135405122	19865438	936	25569										
MAGEC1	9947	genome.wustl.edu	37	chrX	140994539	140994539	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ccagattcctgtgagctcctCtttctcctacactttattga	5	13	2	3	rs140353352	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:140994539C>G	ENST00000285879.4	+	4	1635	c.1349C>G	c.(1348-1350)tCt>tGt	p.S450C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	450										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCTCCTCTTTCTCCTAC	0.458										HNSCC(15;0.026)																																							0								C	CYS/SER	2,3825		0,2,1629,565	96	105	102		1349	0.1	0	X	dbSNP_134	102	0,6718		0,0,2428,1862	yes	missense	MAGEC1	NM_005462.4	112	0,2,4057,2427	GG,GC,CC,C		0.0,0.0523,0.019	probably-damaging	450/1143	140994539	2,10543	2196	4290	6486	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1349C>G	X.37:g.140994539C>G	ENSP00000285879:p.Ser450Cys		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S450C	ENST00000285879.4	37	c.1349	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	4.868	0.161341	0.09287	5.23E-4	0.0	ENSG00000155495	ENST00000285879	T	0.04015	3.73	0.131	0.131	0.14755	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	0.999998	D	0.63046	0.992	P	0.60117	0.869	T	0.41840	-0.9486	9	0.66056	D	0.02	.	5.9545	0.19265	0.0:0.9994:0.0:6.0E-4	.	450	O60732	MAGC1_HUMAN	C	450	ENSP00000285879:S450C	ENSP00000285879:S450C	S	+	2	0	MAGEC1	140822205	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.736000	0.04882	0.157000	0.19338	0.158000	0.16466	TCT	MAGEC1	-	NULL		0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140994539	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.031	G	G	140994539	C	G	140994539	3	3	151	1	0	0	0	0	1	0	0	0	9203	913	32	1	1355	1	MAGEC1	23	140994539	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	5589417	140994539	14276021	937	25570										
SPANXN4	441525	genome.wustl.edu	37	chrX	142113842	142113842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	accaacgagaataaaatgaaGagcccctgtgaatctaacaa	7	9	1	4			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:142113842G>A	ENST00000446864.1	+	1	139	c.42G>A	c.(40-42)aaG>aaA	p.K14K	SPANXN4_ENST00000370504.3_Silent_p.K14K	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	14										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAAATGAAGAGCCCCTGTG	0.438																																																	0													93	87	89					X																	142113842		2194	4294	6488	SO:0001819	synonymous_variant	441525			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 9"	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.42G>A	X.37:g.142113842G>A			Q0ZNK6|Q5W0S6	Silent	SNP	pfam_SPANX_prot	p.K14	ENST00000446864.1	37	c.42	CCDS48178.1	X																																																																																			SPANXN4	-	pfam_SPANX_prot		0.438	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN4	HGNC	protein_coding	OTTHUMT00000377539.1	G	NM_001009613		142113842	1	no_errors	ENST00000446864	ensembl	human	known	70_37	silent	SNP	0.001	A	A	142113842	G	A	142113842	2	1	151	1	0	0	0	0	0	0	0	1	15023	933	33	1		1	SPANXN4	23	142113842	Silent	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	1119303	142113842	13156718	938	25571										
CD99L2	83692	genome.wustl.edu	37	chrX	149963687	149963687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	ggtgggactcacctcctcctCcagcaattggtttcctgcgg	11	14	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:149963687C>T	ENST00000370377.3	-	6	539	c.422G>A	c.(421-423)gGa>gAa	p.G141E	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.G69E|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000466436.1_Missense_Mutation_p.G92E	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	141	Poly-Gly.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCCTCCTCCAGCAATTGG	0.507																																																	0													157	158	158					X																	149963687		2203	4300	6503	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.422G>A	X.37:g.149963687C>T	ENSP00000359403:p.Gly141Glu		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	pfam_CD99L2	p.G141E	ENST00000370377.3	37	c.422	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096565	0.20552	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.67	0.628	0.17681	.	0.486738	0.21104	N	0.080118	T	0.40619	0.1124	M	0.73372	2.23	0.47584	D	0.999469	D;D;B	0.76494	0.996;0.999;0.046	P;D;B	0.74023	0.898;0.982;0.04	T	0.12941	-1.0528	9	.	.	.	-10.2617	11.6756	0.51427	0.0:0.4867:0.5133:0.0	.	69;92;141	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	E	141;145;69;92;104	ENSP00000359403:G141E;ENSP00000347275:G69E;ENSP00000417697:G92E;ENSP00000391821:G104E	.	G	-	2	0	CD99L2	149714345	0.002000	0.14202	0.488000	0.27440	0.522000	0.34438	0.349000	0.20055	0.011000	0.14865	0.513000	0.50165	GGA	CD99L2	-	pfam_CD99L2		0.507	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	C	NM_031462		149963687	-1	no_errors	ENST00000370377	ensembl	human	known	70_37	missense	SNP	0.655	T	T	149963687	C	T	149963687	3	4	151	1	0	0	0	0	1	0	0	0	3056	855	30	1	390	1	CD99L2	23	149963687	Missense_Mutation	SNP	C	TCGA-IR-A3LH-01A-21D-A20U-09	7849845	149963687	5306873	939	25572										
ZNF275	10838	genome.wustl.edu	37	chrX	152612885	152612885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgtgcagcagggatttcctgGatcgccaggagcttctcaag	13	11	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:152612885G>A	ENST00000421401.3	+	4	919	c.742G>A	c.(742-744)Gat>Aat	p.D248N	ZNF275_ENST00000370249.2_Missense_Mutation_p.D195N|ZNF275_ENST00000440091.1_Missense_Mutation_p.D278N|ZNF275_ENST00000370251.3_Missense_Mutation_p.D248N			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATTTCCTGGATCGCCAGGA	0.602																																																	0													54	56	55					X																	152612885		2183	4273	6456	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.742G>A	X.37:g.152612885G>A	ENSP00000398977:p.Asp248Asn		A6NE92	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D278N	ENST00000421401.3	37	c.832		X	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227923	0.39399	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.27720	2.47;2.47;1.65;2.47	4.38	4.38	0.52667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172100	0.27861	N	0.017551	T	0.17023	0.0409	N	0.11892	0.195	0.20764	N	0.999853	B;B	0.34214	0.271;0.442	B;B	0.33568	0.093;0.166	T	0.13335	-1.0513	10	0.44086	T	0.13	-20.3305	9.5405	0.39248	0.0:0.2097:0.7903:0.0	.	248;248	Q9NSD4;A6NFS0	ZN275_HUMAN;.	N	248;248;278;195	ENSP00000359271:D248N;ENSP00000398977:D248N;ENSP00000411097:D278N;ENSP00000359269:D195N	ENSP00000359269:D195N	D	+	1	0	ZNF275	152266079	0.000000	0.05858	0.973000	0.42090	0.662000	0.39071	-1.569000	0.02142	2.157000	0.67596	0.513000	0.50165	GAT	ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		G	NM_001080485		152612885	1	no_errors	ENST00000440091	ensembl	human	known	70_37	missense	SNP	0.385	A	A	152612885	G	A	152612885	3	1	151	1	0	0	0	0	1	0	0	0	17840	1174	41	1	752	1	ZNF275	23	152612885	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	2649198	152612885	2657675	940	25573										
ZNF275	10838	genome.wustl.edu	37	chrX	152612967	152612967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.613146551724138	569	3.53214284284368e-232	4.28966152629498	5.00204132973944	3.72971892655367	0.416899608629643	0.657548976212608	436	cgactgcggcaagtccttccGaggggtcaacgggctggccg	16	13	1	0			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:152612967G>A	ENST00000421401.3	+	4	1001	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	ZNF275_ENST00000370249.2_Missense_Mutation_p.R222Q|ZNF275_ENST00000440091.1_Missense_Mutation_p.R305Q|ZNF275_ENST00000370251.3_Missense_Mutation_p.R275Q			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGTCCTTCCGAGGGGTCAAC	0.647																																																	0													23	26	25					X																	152612967		2192	4284	6476	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.824G>A	X.37:g.152612967G>A	ENSP00000398977:p.Arg275Gln		A6NE92	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R305Q	ENST00000421401.3	37	c.914		X	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477923	0.63849	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.15718	4.68;2.4;2.4;2.4	4.62	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393730	0.18762	N	0.131850	T	0.15609	0.0376	L	0.53617	1.68	0.22896	N	0.998593	B;B	0.25743	0.076;0.133	B;B	0.22601	0.027;0.04	T	0.20538	-1.0272	10	0.66056	D	0.02	-6.5253	5.7568	0.18178	0.109:0.1931:0.6979:0.0	.	275;275	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Q	275;275;305;222	ENSP00000359271:R275Q;ENSP00000398977:R275Q;ENSP00000411097:R305Q;ENSP00000359269:R222Q	ENSP00000359269:R222Q	R	+	2	0	ZNF275	152266161	0.003000	0.15002	0.665000	0.29768	0.986000	0.74619	1.057000	0.30492	1.068000	0.40764	0.513000	0.50165	CGA	ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		G	NM_001080485		152612967	1	no_errors	ENST00000440091	ensembl	human	known	70_37	missense	SNP	0.384	A	A	152612967	G	A	152612967	3	1	151	1	0	0	0	0	1	0	0	0	17840	1058	37	1	834	1	ZNF275	23	152612967	Missense_Mutation	SNP	G	TCGA-IR-A3LH-01A-21D-A20U-09	82	152612967	2657593	941	25574										
CHD5	26038	genome.wustl.edu	37	chr1	6214792	6214792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cggggggctgacggctagcgGaggggagatggtgaccgtct	21	8	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:6214792G>A	ENST00000262450.3	-	5	772	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACGGCTAGCGGAGGGGAGATG	0.687																																																	0													22	21	21					1																	6214792		2198	4299	6497	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.673C>T	1.37:g.6214792G>A	ENSP00000262450:p.Pro225Ser		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P225S	ENST00000262450.3	37	c.673	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074838	0.20227	.	.	ENSG00000116254	ENST00000262450	D	0.90261	-2.64	3.84	3.84	0.44239	.	0.079650	0.50627	D	0.000104	D	0.86146	0.5863	L	0.48642	1.525	0.80722	D	1	B	0.25667	0.131	B	0.19666	0.026	D	0.83875	0.0276	10	0.38643	T	0.18	-26.6664	12.6819	0.56926	0.0:0.1667:0.8333:0.0	.	225	Q8TDI0	CHD5_HUMAN	S	225	ENSP00000262450:P225S	ENSP00000262450:P225S	P	-	1	0	CHD5	6137379	0.113000	0.22115	0.908000	0.35775	0.048000	0.14542	1.051000	0.30417	1.876000	0.54355	0.313000	0.20887	CCG	CHD5	-	NULL		0.687	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	G	NM_015557		6214792	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	missense	SNP	0.930	A	A	6214792	G	A	6214792	3	1	152	1	0	0	0	0	1	0	0	0	3333	1174	41	1	5339	1	CHD5	1	6214792	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		6214792	243035829	1	25575										
PHF13	148479	genome.wustl.edu	37	chr1	6680211	6680211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgcaggatatcccccaggctCccagcgacccctgctcgggc	11	18	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:6680211C>T	ENST00000377648.4	+	3	872	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	164					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CCCCCAGGCTCCCAGCGACCC	0.592																																																	0													29	33	32					1																	6680211		2203	4300	6503	SO:0001583	missense	148479			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.490C>T	1.37:g.6680211C>T	ENSP00000366876:p.Pro164Ser		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.P164S	ENST00000377648.4	37	c.490	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	C	6.747	0.506637	0.12883	.	.	ENSG00000116273	ENST00000377648	T	0.49720	0.77	5.77	1.13	0.20643	.	0.507150	0.21892	N	0.067567	T	0.23611	0.0571	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14896	-1.0456	10	0.09084	T	0.74	-4.8482	3.6336	0.08141	0.3145:0.3843:0.2226:0.0786	.	164	Q86YI8	PHF13_HUMAN	S	164	ENSP00000366876:P164S	ENSP00000366876:P164S	P	+	1	0	PHF13	6602798	0.000000	0.05858	0.014000	0.15608	0.773000	0.43773	0.358000	0.20216	0.316000	0.23135	0.561000	0.74099	CCC	PHF13	-	NULL		0.592	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	C	NM_153812		6680211	1	no_errors	ENST00000377648	ensembl	human	known	70_37	missense	SNP	0.000	T	T	6680211	C	T	6680211	3	4	152	1	0	0	0	0	1	0	0	0	11848	855	30	1	500	1	PHF13	1	6680211	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	465419	6680211	242570410	2	25576										
CLCNKA	1187	genome.wustl.edu	37	chr1	16358720	16358720	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcccagatcctggtaggcatCgtgcagagggcccagctggt	14	12	0	2	rs149572981		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:16358720C>T	ENST00000331433.4	+	17	1798	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	CLCNKA_ENST00000375692.1_Silent_p.I593I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.I593I|CLCNKA_ENST00000439316.2_Silent_p.I550I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	593	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGGTAGGCATCGTGCAGAGGG	0.632																																																	0								C	,	1,4405		0,1,2202	40	40	40		1779,1779	-7.1	0	1	dbSNP_134	40	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CLCNKA	NM_001042704.1,NM_004070.3	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	593/687,593/688	16358720	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1779C>T	1.37:g.16358720C>T			B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.I593	ENST00000331433.4	37	c.1779	CCDS167.1	1																																																																																			CLCNKA	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.632	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	C			16358720	1	no_errors	ENST00000331433	ensembl	human	known	70_37	silent	SNP	0.000	T	T	16358720	C	T	16358720	2	4	152	1	0	0	0	0	0	0	0	1	3474	874	31	1		1	CLCNKA	1	16358720	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9678509	16358720	232891901	3	25577										
KLHDC7A	127707	genome.wustl.edu	37	chr1	18808487	18808487	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cctcgggaggccaagccggtGacacaaagggtgcagccgaa	15	12	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:18808487G>T	ENST00000400664.1	+	1	1064	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	338						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGCCGGTGACACAAAGGG	0.682																																																	0													13	17	15					1																	18808487		2131	4196	6327	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1012G>T	1.37:g.18808487G>T	ENSP00000383505:p.Asp338Tyr		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.D338Y	ENST00000400664.1	37	c.1012	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136525	0.77662	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.73363	-0.74	4.99	0.804	0.18697	.	1.587130	0.04063	N	0.306691	T	0.73999	0.3659	N	0.22421	0.69	0.09310	N	1	P;D	0.61080	0.531;0.989	B;P	0.57283	0.17;0.817	T	0.62148	-0.6915	10	0.72032	D	0.01	.	7.9554	0.30040	0.4672:0.0:0.5328:0.0	.	275;338	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	Y	338;275	ENSP00000383505:D338Y	ENSP00000383505:D338Y	D	+	1	0	KLHDC7A	18681074	0.000000	0.05858	0.001000	0.08648	0.725000	0.41563	0.080000	0.14802	0.128000	0.18479	0.313000	0.20887	GAC	KLHDC7A	-	NULL		0.682	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	G	NM_152375		18808487	1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18808487	G	T	18808487	3	4	152	1	0	0	0	0	1	0	0	0	8380	1290	45	3	1014	3	KLHDC7A	1	18808487	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2449767	18808487	230442134	4	25578										
KLHDC7A	127707	genome.wustl.edu	37	chr1	18808567	18808567	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgaggcttcagccggaaggaGagccttctgcagatagcgga	15	10	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:18808567G>C	ENST00000400664.1	+	1	1144	c.1092G>C	c.(1090-1092)gaG>gaC	p.E364D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	364						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGGAAGGAGAGCCTTCTGC	0.697																																																	0													13	16	15					1																	18808567		2103	4219	6322	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1092G>C	1.37:g.18808567G>C	ENSP00000383505:p.Glu364Asp		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.E364D	ENST00000400664.1	37	c.1092	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	G	6.649	0.488186	0.12641	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.73681	-0.77	5.16	0.87	0.19102	.	0.865482	0.09963	N	0.733210	T	0.62024	0.2394	L	0.38175	1.15	0.24650	N	0.993526	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.42378	-0.9455	10	0.12103	T	0.63	.	11.4488	0.50140	0.0739:0.5004:0.4257:0.0	.	301;364	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	D	364;301	ENSP00000383505:E364D	ENSP00000383505:E364D	E	+	3	2	KLHDC7A	18681154	0.131000	0.22433	0.863000	0.33907	0.027000	0.11550	0.029000	0.13666	0.173000	0.19788	0.313000	0.20887	GAG	KLHDC7A	-	NULL		0.697	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	G	NM_152375		18808567	1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.791	C	C	18808567	G	C	18808567	3	2	152	1	0	0	0	0	1	0	0	0	8380	933	33	1	1094	1	KLHDC7A	1	18808567	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	80	18808567	230442054	5	25579										
ZBTB40	9923	genome.wustl.edu	37	chr1	22817988	22817988	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccaggatgttttaaaaaaaCtagaaatgtgttcagaaatt	7	5	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:22817988C>G	ENST00000375647.4	+	3	1000	c.793C>G	c.(793-795)Cta>Gta	p.L265V	ZBTB40_ENST00000404138.1_Missense_Mutation_p.L265V|ZBTB40_ENST00000374651.4_Missense_Mutation_p.L265V	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TTTAAAAAAACTAGAAATGTG	0.378																																																	0													78	83	81					1																	22817988		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.793C>G	1.37:g.22817988C>G	ENSP00000364798:p.Leu265Val		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L265V	ENST00000375647.4	37	c.793	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067454	0.55539	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.57	3.69	0.42338	.	0.000000	0.42821	D	0.000643	D	0.88355	0.6414	M	0.64997	1.995	0.35472	D	0.79744	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	D	0.91577	0.5276	10	0.87932	D	0	-8.0602	11.2996	0.49298	0.0:0.8483:0.0:0.1517	.	265;265	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	V	265;219;265;265;265	ENSP00000384527:L265V;ENSP00000364798:L265V;ENSP00000383098:L265V;ENSP00000363782:L265V	ENSP00000363780:L219V	L	+	1	2	ZBTB40	22690575	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	1.759000	0.38420	1.356000	0.45884	0.585000	0.79938	CTA	ZBTB40	-	NULL		0.378	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	C	NM_014870		22817988	1	no_errors	ENST00000375647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22817988	C	G	22817988	3	3	152	1	0	0	0	0	1	0	0	0	17572	564	20	4	799	4	ZBTB40	1	22817988	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	4009421	22817988	226432633	6	25580										
ZNF436	80818	genome.wustl.edu	37	chr1	23688685	23688685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgacctttcaccaaagcttCgccaacactcattacactca	3	16	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:23688685C>T	ENST00000314011.4	-	4	1326	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q	ZNF436_ENST00000374608.3_Missense_Mutation_p.R397Q	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCAAAGCTTCGCCAACACTC	0.483																																																	0													98	101	100					1																	23688685		2203	4300	6503	SO:0001583	missense	80818			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1190G>A	1.37:g.23688685C>T	ENSP00000313582:p.Arg397Gln		Q658I9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R397Q	ENST00000314011.4	37	c.1190	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406930	0.62399	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.07567	3.18;3.18	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000209	T	0.06554	0.0168	L	0.31120	0.905	0.35354	D	0.787657	P	0.34800	0.469	B	0.27796	0.083	T	0.16276	-1.0408	10	0.72032	D	0.01	-13.1307	10.8753	0.46906	0.0:0.9149:0.0:0.0851	.	397	Q9C0F3	ZN436_HUMAN	Q	397	ENSP00000313582:R397Q;ENSP00000363736:R397Q	ENSP00000313582:R397Q	R	-	2	0	ZNF436	23561272	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	3.212000	0.51145	2.826000	0.97356	0.655000	0.94253	CGA	ZNF436	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	C	NM_030634		23688685	-1	no_errors	ENST00000314011	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23688685	C	T	23688685	3	4	152	1	0	0	0	0	1	0	0	0	17939	884	31	1	226	1	ZNF436	1	23688685	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	870697	23688685	225561936	7	25581										
TCEB3	6924	genome.wustl.edu	37	chr1	24082354	24082354	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tattaattgaagaaacagatCaattatggaaagttcattgt	7	3	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:24082354C>T	ENST00000418390.2	+	8	2162	c.1891C>T	c.(1891-1893)Caa>Taa	p.Q631*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.Q605*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	631	Activation domain. {ECO:0000250}.|F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAAACAGATCAATTATGGAA	0.408																																																	0													70	71	71					1																	24082354		2203	4300	6503	SO:0001587	stop_gained	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1891C>T	1.37:g.24082354C>T	ENSP00000395574:p.Gln631*		B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.Q631*	ENST00000418390.2	37	c.1891	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	C	41	8.713166	0.98925	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.4828	19.782	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	631	.	ENSP00000395574:Q631X	Q	+	1	0	TCEB3	23954941	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.090000	0.57693	2.757000	0.94681	0.462000	0.41574	CAA	TCEB3	-	pfam_RNA_pol_II_trans_fac_SIII_A,pfscan_F-box_dom_cyclin-like		0.408	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	C	NM_003198		24082354	1	no_errors	ENST00000418390	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	24082354	C	T	24082354	4	4	152	1	0	0	0	0	0	1	0	0	15711	827	29	1	1921	1	TCEB3	1	24082354	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	393669	24082354	225168267	8	25582										
EIF3I	8668	genome.wustl.edu	37	chr1	32692106	32692106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	catcgctggccatgagagtgGagagctcaaccagtatagtg	13	9	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:32692106G>A	ENST00000373586.1	+	6	575	c.503G>A	c.(502-504)gGa>gAa	p.G168E	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CATGAGAGTGGAGAGCTCAAC	0.463																																					Colon(102;1138 2140 2180 17876)												0													164	176	172					1																	32692106		2203	4300	6503	SO:0001583	missense	8668			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"WD repeat domain containing"	3272	protein-coding gene	gene with protein product		603911	"eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.503G>A	1.37:g.32692106G>A	ENSP00000362688:p.Gly168Glu			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G168E	ENST00000373586.1	37	c.503	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.628513	0.87560	.	.	ENSG00000084623	ENST00000373586	D	0.84516	-1.86	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053959	0.85682	D	0.000000	D	0.92792	0.7708	M	0.84433	2.695	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	D	0.94238	0.7482	10	0.87932	D	0	-26.197	17.4525	0.87596	0.0:0.0:1.0:0.0	.	168	Q13347	EIF3I_HUMAN	E	168	ENSP00000362688:G168E	ENSP00000362688:G168E	G	+	2	0	EIF3I	32464693	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.392000	0.97252	2.187000	0.69744	0.457000	0.33378	GGA	EIF3I	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.463	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	G	NM_003757		32692106	1	no_errors	ENST00000373586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32692106	G	A	32692106	3	1	152	1	0	0	0	0	1	0	0	0	5031	1174	41	1	525	1	EIF3I	1	32692106	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	8609752	32692106	216558515	9	25583										
SLFNL1	200172	genome.wustl.edu	37	chr1	41486318	41486318	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acctgtgtttgcactgatctCttcatgggggtcatgggaag	13	8	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:41486318C>T	ENST00000359345.1	-	1	2591	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SLFNL1_ENST00000302946.8_Silent_p.K5K|SLFNL1_ENST00000372613.2_Silent_p.K5K|SLFNL1_ENST00000397197.2_Silent_p.K5K|SLFNL1_ENST00000439569.2_Silent_p.K5K|SLFNL1_ENST00000372611.1_Silent_p.K5K	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	5							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCACTGATCTCTTCATGGGGG	0.592																																																	0													32	33	33					1																	41486318		2203	4299	6502	SO:0001819	synonymous_variant	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.15G>A	1.37:g.41486318C>T			A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	pfam_ATPase_AAA-4	p.K5	ENST00000359345.1	37	c.15	CCDS460.1	1																																																																																			SLFNL1	-	NULL		0.592	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1	C	NM_144990		41486318	-1	no_errors	ENST00000302946	ensembl	human	known	70_37	silent	SNP	0.962	T	T	41486318	C	T	41486318	2	4	152	1	0	0	0	0	0	0	0	1	14768	912	32	1		1	SLFNL1	1	41486318	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8794212	41486318	207764303	10	25584										
C1orf175	374977	genome.wustl.edu	37	chr1	55145575	55145575	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtgccccagatcccagaaatCatgcaaggcatctacatgca	8	13	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:55145575C>T	ENST00000421030.2	+	13	2523	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	MROH7_ENST00000545244.1_Silent_p.I314I|MROH7_ENST00000454855.2_Silent_p.I264I|MROH7_ENST00000339553.5_Silent_p.I746I|MROH7-TTC4_ENST00000414150.2_Silent_p.I746I|MROH7_ENST00000395690.2_Silent_p.I746I|MROH7_ENST00000409996.1_Silent_p.I314I	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	746						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCCAGAAATCATGCAAGGCA	0.657																																																	0													83	92	89					1																	55145575		1997	4166	6163	SO:0001819	synonymous_variant	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2238C>T	1.37:g.55145575C>T			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	superfamily_ARM-type_fold	p.I746	ENST00000421030.2	37	c.2238	CCDS41342.2	1																																																																																			HEATR8	-	superfamily_ARM-type_fold		0.657	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	C	NM_198547		55145575	1	no_errors	ENST00000421030	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55145575	C	T	55145575	2	4	152	1	0	0	0	0	0	0	0	1	2021	816	29	1		1	C1orf175	1	55145575	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	13659257	55145575	194105046	11	25585										
USP24	23358	genome.wustl.edu	37	chr1	55539505	55539505	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttaattcaatacttacttttGagcaagagtgacaagaaatt	6	5	1	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:55539505G>A	ENST00000294383.6	-	64	7521	c.7522C>T	c.(7522-7524)Caa>Taa	p.Q2508*	USP24_ENST00000407756.1_Nonsense_Mutation_p.Q2348*|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2508					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACTTACTTTTGAGCAAGAGTG	0.408																																																	0													62	54	56					1																	55539505		1876	4104	5980	SO:0001587	stop_gained	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7522C>T	1.37:g.55539505G>A	ENSP00000294383:p.Gln2508*		Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.Q2508*	ENST00000294383.6	37	c.7522	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	48	14.511991	0.99799	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.0783	0.93171	0.0:0.0:1.0:0.0	.	.	.	.	X	2508;2348	.	ENSP00000294383:Q2508X	Q	-	1	0	USP24	55312093	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.709000	0.91379	2.731000	0.93534	0.650000	0.86243	CAA	USP24	-	superfamily_ARM-type_fold		0.408	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55539505	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55539505	G	A	55539505	4	1	152	1	0	0	0	0	0	1	0	0	17086	1299	45	1	360	1	USP24	1	55539505	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	393930	55539505	193711116	12	25586										
GBP3	2635	genome.wustl.edu	37	chr1	89477668	89477668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccatgcagggcagatcccctCtgctgatagcattgatatag	10	11	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:89477668C>T	ENST00000370481.4	-	7	1131	c.911G>A	c.(910-912)aGa>aAa	p.R304K		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	338	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGATCCCCTCTGCTGATAGC	0.463																																																	0													66	46	53					1																	89477668		2190	3946	6136	SO:0001583	missense	2635			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.911G>A	1.37:g.89477668C>T	ENSP00000359512:p.Arg304Lys		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.R304K	ENST00000370481.4	37	c.911	CCDS717.2	1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765288	0.31228	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.51817	0.69	3.84	1.91	0.25777	Guanylate-binding protein, C-terminal (3);	0.141130	0.64402	D	0.000007	T	0.11537	0.0281	N	0.14661	0.345	0.19775	N	0.999956	B;B	0.14805	0.003;0.011	B;B	0.18263	0.006;0.021	T	0.22382	-1.0218	10	0.52906	T	0.07	.	6.7886	0.23687	0.0:0.715:0.1806:0.1044	.	170;304	F6X827;Q9H0R5	.;GBP3_HUMAN	K	272;304;304	ENSP00000359512:R304K	ENSP00000235878:R304K	R	-	2	0	GBP3	89250256	1.000000	0.71417	0.992000	0.48379	0.355000	0.29361	1.632000	0.37102	0.393000	0.25203	0.508000	0.49915	AGA	GBP3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.463	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3	C	NM_018284		89477668	-1	no_errors	ENST00000370481	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89477668	C	T	89477668	3	4	152	1	0	0	0	0	1	0	0	0	6294	913	32	1	896	1	GBP3	1	89477668	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	33938163	89477668	159772953	13	25587										
LPPR4	9890	genome.wustl.edu	37	chr1	99766487	99766487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agtccttcccttctcaacatGcaacccttgctgcctttgca	5	16	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:99766487G>A	ENST00000370185.3	+	5	1254	c.757G>A	c.(757-759)Gca>Aca	p.A253T	LPPR4_ENST00000457765.1_Missense_Mutation_p.A253T|LPPR4_ENST00000370184.1_Missense_Mutation_p.A95T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		253					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCTCAACATGCAACCCTTGC	0.398																																																	0													310	281	291					1																	99766487		2203	4300	6503	SO:0001583	missense	9890																														ENST00000370185.3:c.757G>A	1.37:g.99766487G>A	ENSP00000359204:p.Ala253Thr		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A253T	ENST00000370185.3	37	c.757	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.388932	0.95988	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.74947	-0.89;-0.89;-0.89	5.31	5.31	0.75309	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81953	-0.0697	10	0.62326	D	0.03	-25.8407	19.3304	0.94283	0.0:0.0:1.0:0.0	.	253;253	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	T	253;253;253;95	ENSP00000359204:A253T;ENSP00000394913:A253T;ENSP00000359203:A95T	ENSP00000263178:A253T	A	+	1	0	RP4-788L13.1	99539075	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.813000	0.99286	2.645000	0.89757	0.591000	0.81541	GCA	LPPR4	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.398	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_genename	protein_coding	OTTHUMT00000029670.2	G			99766487	1	no_errors	ENST00000370185	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99766487	G	A	99766487	3	1	152	1	0	0	0	0	1	0	0	0	8950	1319	46	4	775	4	LPPR4	1	99766487	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	10288819	99766487	149484134	14	25588										
FNDC7	163479	genome.wustl.edu	37	chr1	109264980	109264980	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcgggcccctgccaacattCaagtctctttcgatagtgga	9	13	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:109264980C>A	ENST00000370017.3	+	5	899	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K	FNDC7_ENST00000271311.2_Missense_Mutation_p.Q209K	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	208	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGCCAACATTCAAGTCTCTTT	0.438																																																	0													46	40	42					1																	109264980		692	1591	2283	SO:0001583	missense	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.622C>A	1.37:g.109264980C>A	ENSP00000359034:p.Gln208Lys		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q209K	ENST00000370017.3	37	c.625	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515179	0.27123	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.52754	0.65;0.65	5.63	5.63	0.86233	.	0.374427	0.33691	N	0.004659	T	0.28599	0.0708	L	0.60455	1.87	0.38387	D	0.945308	B	0.20261	0.043	B	0.13407	0.009	T	0.11842	-1.0571	10	0.14252	T	0.57	-0.838	15.9858	0.80151	0.1351:0.8649:0.0:0.0	.	208	E9PAZ5	.	K	208;209	ENSP00000359034:Q208K;ENSP00000271311:Q209K	ENSP00000271311:Q209K	Q	+	1	0	FNDC7	109066503	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	1.555000	0.36277	2.658000	0.90341	0.455000	0.32223	CAA	FNDC7	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	C	NM_173532		109264980	1	no_errors	ENST00000271311	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109264980	C	A	109264980	3	1	152	1	0	0	0	0	1	0	0	0	5991	827	29	3	640	3	FNDC7	1	109264980	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9498493	109264980	139985641	15	25589										
KCNA10	3744	genome.wustl.edu	37	chr1	111060863	111060863	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agggtctttgatgaagccttCatcctcccggaactggtcca	10	12	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:111060863C>T	ENST00000369771.2	-	1	934	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	183					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	ATGAAGCCTTCATCCTCCCGG	0.517																																																	0													125	123	123					1																	111060863		2203	4300	6503	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.547G>A	1.37:g.111060863C>T	ENSP00000358786:p.Glu183Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E183K	ENST00000369771.2	37	c.547	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439557	0.63067	.	.	ENSG00000143105	ENST00000369771	T	0.77877	-1.13	5.69	5.69	0.88448	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.91140	3.18	0.80722	D	1	B	0.27351	0.176	B	0.23419	0.046	T	0.80120	-0.1515	10	0.66056	D	0.02	.	18.3695	0.90402	0.0:1.0:0.0:0.0	.	183	Q16322	KCA10_HUMAN	K	183	ENSP00000358786:E183K	ENSP00000358786:E183K	E	-	1	0	KCNA10	110862386	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.682000	0.91365	0.655000	0.94253	GAA	KCNA10	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.517	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA10	HGNC	protein_coding	OTTHUMT00000059081.1	C	NM_005549		111060863	-1	no_errors	ENST00000369771	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111060863	C	T	111060863	3	4	152	1	0	0	0	0	1	0	0	0	8022	835	29	1	992	1	KCNA10	1	111060863	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1795883	111060863	138189758	16	25590										
C1orf183	55924	genome.wustl.edu	37	chr1	112270351	112270351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgctgtctgcacctggaggaGcttcagttcttgcagtgcac	12	11	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:112270351G>T	ENST00000357260.5	-	2	314	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	FAM212B_ENST00000534365.1_Missense_Mutation_p.L45I|FAM212B_ENST00000444059.2_Missense_Mutation_p.L30I	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	45										cervix(1)|endometrium(1)	2						ACCTGGAGGAGCTTCAGTTCT	0.582																																																	0													97	90	92					1																	112270351		2203	4300	6503	SO:0001583	missense	55924			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.133C>A	1.37:g.112270351G>T	ENSP00000349805:p.Leu45Ile		B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	NULL	p.L45I	ENST00000357260.5	37	c.133	CCDS841.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342721	0.82022	.	.	ENSG00000197852	ENST00000357260;ENST00000534365;ENST00000444059;ENST00000527621	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	M	0.62723	1.935	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.74450	-0.3661	9	0.52906	T	0.07	-29.2698	18.1378	0.89627	0.0:0.0:1.0:0.0	.	30;45	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	I	45;45;30;54	.	ENSP00000349805:L45I	L	-	1	0	C1orf183	112071874	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.405000	0.80007	2.344000	0.79699	0.561000	0.74099	CTC	FAM212B	-	NULL		0.582	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM212B	HGNC	protein_coding	OTTHUMT00000033060.2	G	NM_019099		112270351	-1	no_errors	ENST00000357260	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112270351	G	T	112270351	3	4	152	1	0	0	0	0	1	0	0	0	2024	971	34	4	764	4	C1orf183	1	112270351	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1209488	112270351	136980270	17	25591										
SPAG17	200162	genome.wustl.edu	37	chr1	118526482	118526482	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agctgtttcgtttgcatcttCatttttctttgtaaaagaag	7	6	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:118526482C>G	ENST00000336338.5	-	42	5889	c.5824G>C	c.(5824-5826)Gaa>Caa	p.E1942Q	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1942						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGCATCTTCATTTTTCTTT	0.308																																																	0													151	144	146					1																	118526482		2202	4300	6502	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5824G>C	1.37:g.118526482C>G	ENSP00000337804:p.Glu1942Gln		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E1942Q	ENST00000336338.5	37	c.5824	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030990	0.35797	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19105	2.17	4.9	1.97	0.26223	.	0.781535	0.12041	N	0.505085	T	0.07683	0.0193	M	0.70595	2.14	0.09310	N	1	P	0.40731	0.728	B	0.36244	0.22	T	0.28650	-1.0037	10	0.19147	T	0.46	.	7.2464	0.26124	0.0:0.7198:0.0:0.2802	.	1942	Q6Q759	SPG17_HUMAN	Q	1942;422	ENSP00000337804:E1942Q	ENSP00000337804:E1942Q	E	-	1	0	SPAG17	118328005	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.412000	0.07132	0.339000	0.23719	0.655000	0.94253	GAA	SPAG17	-	NULL		0.308	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118526482	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.004	G	G	118526482	C	G	118526482	3	3	152	1	0	0	0	0	1	0	0	0	15009	835	29	1	875	1	SPAG17	1	118526482	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	6256131	118526482	130724139	18	25592										
NOTCH2	4853	genome.wustl.edu	37	chr1	120458453	120458453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aatggggggcaagggctcccGaggggtggttatgtgcttcc	18	8	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:120458453G>A	ENST00000256646.2	-	34	7111	c.6892C>T	c.(6892-6894)Cgg>Tgg	p.R2298W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2298					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGGCTCCCGAGGGGTGGTT	0.612			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													59	63	62					1																	120458453		2203	4299	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6892C>T	1.37:g.120458453G>A	ENSP00000256646:p.Arg2298Trp		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R2298W	ENST00000256646.2	37	c.6892	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192482	0.58017	.	.	ENSG00000134250	ENST00000256646	D	0.83506	-1.73	5.5	5.5	0.81552	.	0.238762	0.21720	U	0.070137	T	0.76248	0.3961	L	0.36672	1.1	0.58432	D	0.999992	D	0.71674	0.998	P	0.49387	0.609	T	0.80339	-0.1424	10	0.72032	D	0.01	.	13.9444	0.64075	0.0:0.0:0.8384:0.1616	.	2298	Q04721	NOTC2_HUMAN	W	2298	ENSP00000256646:R2298W	ENSP00000256646:R2298W	R	-	1	2	NOTCH2	120259976	0.272000	0.24172	0.986000	0.45419	0.946000	0.59487	1.200000	0.32247	2.588000	0.87417	0.561000	0.74099	CGG	NOTCH2	-	pirsf_Notch,prints_Notch_2		0.612	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120458453	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.981	A	A	120458453	G	A	120458453	3	1	152	1	0	0	0	0	1	0	0	0	10572	1057	37	1	527	1	NOTCH2	1	120458453	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1931971	120458453	128792168	19	25593										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144952297	144952297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgactcccttcagtttctctGagagctccaggttacactcc	7	14	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:144952297G>A	ENST00000369354.3	-	4	611	c.422C>T	c.(421-423)tCa>tTa	p.S141L	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S278L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S278L|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.S141L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S141L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S141L|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.S278L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S141L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S207L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	141					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S141*(2)|p.S278*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGTTTCTCTGAGAGCTCCAG	0.522			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Nonsense(3)	lung(3)											28	30	30					1																	144952297		2199	4274	6473	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.422C>T	1.37:g.144952297G>A	ENSP00000358360:p.Ser141Leu		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S141L	ENST00000369354.3	37	c.422	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546394	0.27652	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	T;T;T;T;T;T;T;T;T;T;T	0.41758	4.71;4.81;4.81;4.81;4.81;3.8;3.81;1.87;1.87;3.05;0.99	4.78	3.87	0.44632	.	.	.	.	.	T	0.18425	0.0442	L	0.54323	1.7	0.20638	N	0.99988	B;B;B	0.31077	0.001;0.307;0.026	B;B;B	0.27170	0.005;0.077;0.014	T	0.18366	-1.0339	9	0.72032	D	0.01	.	6.6025	0.22708	0.0964:0.1813:0.7223:0.0	.	141;207;141	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	L	207;141;141;278;278;141;141;207;144;141;278;64	ENSP00000327209:S207L;ENSP00000358360:S141L;ENSP00000358363:S141L;ENSP00000435654:S278L;ENSP00000358366:S278L;ENSP00000358357:S141L;ENSP00000358355:S141L;ENSP00000435920:S144L;ENSP00000358353:S141L;ENSP00000358354:S278L;ENSP00000437202:S64L	ENSP00000327209:S207L	S	-	2	0	PDE4DIP	143663654	0.105000	0.21958	0.966000	0.40874	0.950000	0.60333	2.111000	0.41883	1.243000	0.43853	0.561000	0.74099	TCA	PDE4DIP	-	NULL		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144952297	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.168	A	A	144952297	G	A	144952297	3	1	152	1	0	0	0	0	1	0	0	0	11667	1294	45	1	7925	1	PDE4DIP	1	144952297	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	24493844	144952297	104298324	20	25594										
VPS72	6944	genome.wustl.edu	37	chr1	151149160	151149160	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggcgcaaggctcggggcccaGagccagggaggggctcagga	20	11	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:151149160G>A	ENST00000354473.4	-	6	1124	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000416280.2_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	352					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGGCCCAGAGCCAGGGAG	0.577																																					Pancreas(109;1131 2287 3209 24201)												0													72	86	81					1																	151149160		2203	4300	6503	SO:0001583	missense	6944			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.1088C>T	1.37:g.151149160G>A	ENSP00000346464:p.Ser363Phe		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	pfam_YL1,pfam_YL1_C	p.S352F	ENST00000354473.4	37	c.1055	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904912	0.52333	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.27	5.27	0.74061	.	0.323197	0.28742	N	0.014289	T	0.27063	0.0663	N	0.08118	0	0.38718	D	0.953384	B	0.25169	0.119	B	0.23018	0.043	T	0.24190	-1.0167	9	0.72032	D	0.01	-12.6668	16.8449	0.85978	0.0:0.0:1.0:0.0	.	352	Q15906	VPS72_HUMAN	F	352;363	.	ENSP00000346464:S363F	S	-	2	0	VPS72	149415784	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.646000	0.83445	2.758000	0.94735	0.561000	0.74099	TCT	VPS72	-	NULL		0.577	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	G	NM_005997		151149160	-1	no_errors	ENST00000368892	ensembl	human	known	70_37	missense	SNP	0.997	A	A	151149160	G	A	151149160	3	1	152	1	0	0	0	0	1	0	0	0	17248	942	33	1	43	1	VPS72	1	151149160	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6196863	151149160	98101461	21	25595										
MRPL9	65005	genome.wustl.edu	37	chr1	151733963	151733963	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgggcaactatttcagggttCagctcccatttgacattgtt	9	10	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:151733963C>T	ENST00000368830.3	-	5	636	c.552G>A	c.(550-552)ctG>ctA	p.L184L	MRPL9_ENST00000368829.3_Intron|OAZ3_ENST00000453029.2_5'Flank|OAZ3_ENST00000479764.1_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000315067.8_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	184					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCAGGGTTCAGCTCCCATT	0.468																																																	0													115	105	109					1																	151733963		2203	4300	6503	SO:0001819	synonymous_variant	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.552G>A	1.37:g.151733963C>T			B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N	p.L184	ENST00000368830.3	37	c.552	CCDS1003.1	1																																																																																			MRPL9	-	NULL		0.468	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	C	NM_031420		151733963	-1	no_errors	ENST00000368830	ensembl	human	known	70_37	silent	SNP	0.998	T	T	151733963	C	T	151733963	2	4	152	1	0	0	0	0	0	0	0	1	9843	813	29	1		1	MRPL9	1	151733963	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	584803	151733963	97516658	22	25596										
LCE1E	353135	genome.wustl.edu	37	chr1	152759813	152759824	+	In_Frame_Del	DEL	CTCCCAAGTGCA	CTCCCAAGTGCA	-													0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccagcagcagtgccagccccCtcccaagtgcactcccaagt					rs548297341		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	CTCCCAAGTGCA	CTCCCAAGTGCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:152759813_152759824delCTCCCAAGTGCA	ENST00000368770.3	+	2	91_102	c.38_49delCTCCCAAGTGCA	c.(37-51)cctcccaagtgcact>cct	p.PKCT14del	LCE1E_ENST00000368771.1_In_Frame_Del_p.PKCT14del	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	14	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCAGCCCCctcccaagtgcactcccaagtg	0.604																																																	0																																										SO:0001651	inframe_deletion	353135			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.38_49delCTCCCAAGTGCA	1.37:g.152759813_152759824delCTCCCAAGTGCA	ENSP00000357759:p.Pro14_Thr17del		D3DV30	In_Frame_Del	DEL	NULL	p.TPKC17in_frame_del	ENST00000368770.3	37	c.38_49	CCDS1024.1	1																																																																																			LCE1E	-	NULL		0.604	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	CTCCCAAGTGCA	NM_178353		152759824	1	no_errors	ENST00000368770	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.993:0.980:0.785:0.777	-	-	152759824	CTCCCAAGTGCA	-	152759813	7	5	152	1	0	1	0	1	0	0	0	0	8683	681	24	0	40	0	LCE1E	1	152759813	In_Frame_Del	DEL	CTCCCAAGTGCA	TCGA-IR-A3LI-01A-11D-A20U-09	1025850	152759813	96490808	23	25597										
LCE1E	353135	genome.wustl.edu	37	chr1	152759824	152759824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gccagccccctcccaagtgcActcccaagtgccctcccaag	7	21	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:152759824A>C	ENST00000368770.3	+	2	102	c.49A>C	c.(49-51)Act>Cct	p.T17P	LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	17	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccaagtgcactcccaagtg	0.602																																																	0													102	108	106					1																	152759824		2203	4300	6503	SO:0001583	missense	353135			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.49A>C	1.37:g.152759824A>C	ENSP00000357759:p.Thr17Pro		D3DV30	Missense_Mutation	SNP	NULL	p.T17P	ENST00000368770.3	37	c.49	CCDS1024.1	1	.	.	.	.	.	.	.	.	.	.	A	9.288	1.049982	0.19827	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.03689	3.84;3.84	3.38	-3.26	0.05064	.	.	.	.	.	T	0.00440	0.0014	N	0.00991	-1.07	0.20638	N	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.48525	-0.9028	9	0.87932	D	0	.	6.8416	0.23965	0.2511:0.625:0.1239:0.0	.	17	Q5T753	LCE1E_HUMAN	P	17	ENSP00000357760:T17P;ENSP00000357759:T17P	ENSP00000357759:T17P	T	+	1	0	LCE1E	151026448	0.000000	0.05858	0.876000	0.34364	0.922000	0.55478	-1.901000	0.01597	-0.276000	0.09206	0.421000	0.28195	ACT	LCE1E	-	NULL		0.602	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	A	NM_178353		152759824	1	no_errors	ENST00000368770	ensembl	human	known	70_37	missense	SNP	0.777	C	C	152759824	A	C	152759824	3	2	152	1	0	0	0	0	1	0	0	0	8683	159	6	5	51	5	LCE1E	1	152759824	Missense_Mutation	SNP	A	TCGA-IR-A3LI-01A-11D-A20U-09	11	152759824	96490797	24	25598										
DENND4B	9909	genome.wustl.edu	37	chr1	153905691	153905691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acttccagggaaggtgactgGaaggatccaggggtgtcact	15	8	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:153905691G>A	ENST00000361217.4	-	21	3853	c.3435C>T	c.(3433-3435)ttC>ttT	p.F1145F	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1145	Ser-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGTGACTGGAAGGATCCAG	0.567																																																	0													51	55	53					1																	153905691		2051	4190	6241	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3435C>T	1.37:g.153905691G>A			Q5T4K0	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.F1145	ENST00000361217.4	37	c.3435	CCDS44228.1	1																																																																																			DENND4B	-	NULL		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	G	XM_375806		153905691	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	silent	SNP	0.024	A	A	153905691	G	A	153905691	2	1	152	1	0	0	0	0	0	0	0	1	4444	1165	41	1		1	DENND4B	1	153905691	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1145867	153905691	95344930	25	25599										
UBAP2L	9898	genome.wustl.edu	37	chr1	154226534	154226534	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtaccccagctccatctcttCatcaccccaaaaggacctga	5	17	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:154226534C>T	ENST00000361546.2	+	14	1865	c.1823C>T	c.(1822-1824)tCa>tTa	p.S608L	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S619L|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S608L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S608L			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	608					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATCTCTTCATCACCCCAA	0.468																																																	0													63	59	60					1																	154226534		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1823C>T	1.37:g.154226534C>T	ENSP00000355343:p.Ser608Leu		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S608L	ENST00000361546.2	37	c.1823	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686428	0.88639	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.13538	2.58;2.59;2.58;2.59	5.05	5.05	0.67936	.	0.222123	0.39909	N	0.001223	T	0.21801	0.0525	L	0.40543	1.245	0.58432	D	0.999991	D;D;D;D;D	0.61080	0.967;0.989;0.981;0.981;0.967	P;D;D;D;P	0.75020	0.879;0.985;0.943;0.943;0.879	T	0.00975	-1.1494	10	0.72032	D	0.01	-4.9926	17.5691	0.87930	0.0:1.0:0.0:0.0	.	522;619;601;608;608	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	L	608;608;104;104;619;608	ENSP00000345308:S608L;ENSP00000389445:S608L;ENSP00000271877:S619L;ENSP00000355343:S608L	ENSP00000271877:S619L	S	+	2	0	UBAP2L	152493158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.164000	0.71885	2.623000	0.88846	0.655000	0.94253	TCA	UBAP2L	-	NULL		0.468	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154226534	1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154226534	C	T	154226534	3	4	152	1	0	0	0	0	1	0	0	0	16869	838	29	1	1877	1	UBAP2L	1	154226534	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	320843	154226534	95024087	26	25600										
UBAP2L	9898	genome.wustl.edu	37	chr1	154241393	154241393	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccccatcagcagccgcattCtcagatccttcaccatcacc	4	20	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:154241393C>T	ENST00000361546.2	+	25	3173	c.3131C>T	c.(3130-3132)tCt>tTt	p.S1044F	UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S1054F|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S1044F			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1044					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCCGCATTCTCAGATCCTT	0.567																																																	0													127	116	120					1																	154241393		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3131C>T	1.37:g.154241393C>T	ENSP00000355343:p.Ser1044Phe		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S1044F	ENST00000361546.2	37	c.3131	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781357	0.70222	.	.	ENSG00000143569	ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T	0.51071	0.72;0.72;0.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	0.997;0.99;0.994;1.0	D;D;D;D	0.85130	0.994;0.974;0.983;0.997	T	0.65582	-0.6133	10	0.87932	D	0	-5.3586	18.4626	0.90745	0.0:1.0:0.0:0.0	.	1054;540;1044;1044	F8W726;C9JD99;Q14157-3;Q14157	.;.;.;UBP2L_HUMAN	F	1044;540;540;1054;1044	ENSP00000389445:S1044F;ENSP00000271877:S1054F;ENSP00000355343:S1044F	ENSP00000271877:S1054F	S	+	2	0	UBAP2L	152508017	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.427000	0.80284	2.711000	0.92665	0.467000	0.42956	TCT	UBAP2L	-	NULL		0.567	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154241393	1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154241393	C	T	154241393	3	4	152	1	0	0	0	0	1	0	0	0	16869	913	32	1	3283	1	UBAP2L	1	154241393	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	14859	154241393	95009228	27	25601										
DCST1	149095	genome.wustl.edu	37	chr1	155020577	155020577	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctctacaatgacctattgaaGaaaagagcagccttcaccaa	6	11	2	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:155020577G>A	ENST00000295542.1	+	16	1896	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	DCST1_ENST00000392480.1_Silent_p.K600K|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Silent_p.K600K|DCST1_ENST00000423025.2_Silent_p.K575K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	600						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACCTATTGAAGAAAAGAGCAG	0.552																																																	0													73	73	73					1																	155020577		2203	4300	6503	SO:0001819	synonymous_variant	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1800G>A	1.37:g.155020577G>A			B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.K600	ENST00000295542.1	37	c.1800	CCDS1083.1	1																																																																																			DCST1	-	NULL		0.552	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	G	NM_152494		155020577	1	no_errors	ENST00000295542	ensembl	human	known	70_37	silent	SNP	0.994	A	A	155020577	G	A	155020577	2	1	152	1	0	0	0	0	0	0	0	1	4307	933	33	1		1	DCST1	1	155020577	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	779184	155020577	94230044	28	25602										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155932757	155932757	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agatcacccaagcgatggatGacaaagttccgggtgctgcc	12	11	1	2	rs368444093		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:155932757G>A	ENST00000361247.4	-	8	1041	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ARHGEF2_ENST00000368315.4_Silent_p.V315V|ARHGEF2_ENST00000462460.2_Silent_p.V359V|ARHGEF2_ENST00000313695.7_Silent_p.V286V|ARHGEF2_ENST00000313667.4_Silent_p.V313V|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.V286V	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	314	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCGATGGATGACAAAGTTCC	0.582																																					Melanoma(178;35 2768 6610 28839)												0								G	,,	0,4406		0,0,2203	64	63	63		942,939,858	4.9	1	1		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	314/987,313/986,286/959	155932757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.942C>T	1.37:g.155932757G>A			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.V315	ENST00000361247.4	37	c.945	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155932757	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155932757	G	A	155932757	2	1	152	1	0	0	0	0	0	0	0	1	903	1277	45	1		1	ARHGEF2	1	155932757	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	912180	155932757	93317864	29	25603										
MEF2D	4209	genome.wustl.edu	37	chr1	156444993	156444993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cactggggtggtgagcgaatGagtagactgggagaccccaa	16	8	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:156444993G>A	ENST00000348159.4	-	9	1393	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	MEF2D_ENST00000360595.3_Missense_Mutation_p.H298Y|MEF2D_ENST00000368240.2_Missense_Mutation_p.H298Y|MEF2D_ENST00000353795.3_Missense_Mutation_p.H259Y|MEF2D_ENST00000340875.5_Missense_Mutation_p.H304Y|MEF2D_ENST00000464356.2_Missense_Mutation_p.H297Y	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	305					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGAGCGAATGAGTAGACTGG	0.577																																																	0													88	79	82					1																	156444993		2203	4300	6503	SO:0001583	missense	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.913C>T	1.37:g.156444993G>A	ENSP00000271555:p.His305Tyr		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.H305Y	ENST00000348159.4	37	c.913	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.062193	0.93846	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.43	5.43	0.79202	.	0.052229	0.85682	D	0.000000	T	0.24736	0.0600	L	0.44542	1.39	0.50813	D	0.999899	P;P;P	0.51653	0.947;0.825;0.871	P;B;P	0.49387	0.521;0.296;0.609	T	0.01096	-1.1453	10	0.87932	D	0	-24.6702	17.9827	0.89146	0.0:0.0:1.0:0.0	.	310;305;298	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Y	305;304;298;259;298;297	ENSP00000271555:H305Y;ENSP00000343159:H304Y;ENSP00000357223:H298Y;ENSP00000344705:H259Y;ENSP00000353803:H298Y;ENSP00000388505:H297Y	ENSP00000343159:H304Y	H	-	1	0	MEF2D	154711617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.916000	0.92745	2.833000	0.97629	0.655000	0.94253	CAT	MEF2D	-	NULL		0.577	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	G	NM_005920		156444993	-1	no_errors	ENST00000348159	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156444993	G	A	156444993	3	1	152	1	0	0	0	0	1	0	0	0	9481	1290	45	1	668	1	MEF2D	1	156444993	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	512236	156444993	92805628	30	25604										
OR6N1	128372	genome.wustl.edu	37	chr1	158735560	158735560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caatatcccaattctctttaGctgcctcctcacagcctcct	3	17	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:158735560G>A	ENST00000335094.2	-	1	932	c.913C>T	c.(913-915)Cta>Tta	p.L305L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATTCTCTTTAGCTGCCTCCTC	0.572																																																	0													149	145	146					1																	158735560		2203	4300	6503	SO:0001819	synonymous_variant	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.913C>T	1.37:g.158735560G>A			Q5VUU8|Q96R35	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L305	ENST00000335094.2	37	c.913	CCDS30905.1	1																																																																																			OR6N1	-	NULL		0.572	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	G	NM_001005185		158735560	-1	no_errors	ENST00000335094	ensembl	human	known	70_37	silent	SNP	0.101	A	A	158735560	G	A	158735560	2	1	152	1	0	0	0	0	0	0	0	1	11230	962	34	4		4	OR6N1	1	158735560	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2290567	158735560	90515061	31	25605			1	111		4	4	827	G		2.002903e-07
OR6N1	128372	genome.wustl.edu	37	chr1	158735609	158735609	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttgttgcgcaagctgtagatGaaggggttgaggaagggtgt	18	3	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:158735609G>A	ENST00000335094.2	-	1	883	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCTGTAGATGAAGGGGTTGA	0.527																																																	0													165	160	162					1																	158735609		2203	4300	6503	SO:0001819	synonymous_variant	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.864C>T	1.37:g.158735609G>A			Q5VUU8|Q96R35	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F288	ENST00000335094.2	37	c.864	CCDS30905.1	1																																																																																			OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.527	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	G	NM_001005185		158735609	-1	no_errors	ENST00000335094	ensembl	human	known	70_37	silent	SNP	1.000	A	A	158735609	G	A	158735609	2	1	152	1	0	0	0	0	0	0	0	1	11230	1281	45	1		1	OR6N1	1	158735609	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	49	158735609	90515012	32	25606			1	111		4	4	827	G		2.002903e-07
OR6N1	128372	genome.wustl.edu	37	chr1	158736267	158736267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagctgtatagccaagctctGagaaggagagaatgctgaca	12	8	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:158736267G>A	ENST00000335094.2	-	1	225	c.206C>T	c.(205-207)tCa>tTa	p.S69L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCCAAGCTCTGAGAAGGAGAG	0.498																																																	0													88	84	85					1																	158736267		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.206C>T	1.37:g.158736267G>A	ENSP00000335535:p.Ser69Leu		Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S69L	ENST00000335094.2	37	c.206	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.569417	0.00133	.	.	ENSG00000197403	ENST00000335094	T	0.00784	5.7	5.1	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.444320	0.16288	N	0.221006	T	0.00073	0.0002	N	0.00133	-2.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	10	0.06757	T	0.87	-1.4837	9.3285	0.38008	0.912:0.0:0.088:0.0	.	69	Q8NGY5	OR6N1_HUMAN	L	69	ENSP00000335535:S69L	ENSP00000335535:S69L	S	-	2	0	OR6N1	157002891	0.000000	0.05858	0.126000	0.21872	0.149000	0.21700	1.102000	0.31050	0.956000	0.37904	-0.302000	0.09304	TCA	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	G	NM_001005185		158736267	-1	no_errors	ENST00000335094	ensembl	human	known	70_37	missense	SNP	0.005	A	A	158736267	G	A	158736267	3	1	152	1	0	0	0	0	1	0	0	0	11230	1294	45	1	735	1	OR6N1	1	158736267	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	658	158736267	90514354	33	25607			1	111		4	4	827	G		2.002903e-07
OR6N1	128372	genome.wustl.edu	37	chr1	158736386	158736386	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggtaaatgagaagcaacaaGaggaagagataaatctggac	12	4	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:158736386G>A	ENST00000335094.2	-	1	106	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAAGCAACAAGAGGAAGAGAT	0.502																																																	0													81	79	80					1																	158736386		2203	4300	6503	SO:0001819	synonymous_variant	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.87C>T	1.37:g.158736386G>A			Q5VUU8|Q96R35	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L29	ENST00000335094.2	37	c.87	CCDS30905.1	1																																																																																			OR6N1	-	prints_GPCR_Rhodpsn		0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	G	NM_001005185		158736386	-1	no_errors	ENST00000335094	ensembl	human	known	70_37	silent	SNP	0.002	A	A	158736386	G	A	158736386	2	1	152	1	0	0	0	0	0	0	0	1	11230	929	33	1		1	OR6N1	1	158736386	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	119	158736386	90514235	34	25608			1	111		4	4	827	G		2.002903e-07
PBX1	5087	genome.wustl.edu	37	chr1	164761826	164761826	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cggaaggcgtggcggggcctGagaagggcggagggtcggcg	24	8	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:164761826G>C	ENST00000420696.2	+	3	549	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	PBX1_ENST00000367897.1_Missense_Mutation_p.E121Q|PBX1_ENST00000540236.1_Missense_Mutation_p.E121Q|PBX1_ENST00000540246.1_Missense_Mutation_p.E16Q|PBX1_ENST00000401534.1_Missense_Mutation_p.E121Q|PBX1_ENST00000559240.1_Missense_Mutation_p.E121Q|PBX1_ENST00000560641.1_Missense_Mutation_p.E16Q	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	121					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCGGGGCCTGAGAAGGGCGG	0.627			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													25	29	27					1																	164761826		2203	4300	6503	SO:0001583	missense	5087			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.361G>C	1.37:g.164761826G>C	ENSP00000405890:p.Glu121Gln		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E121Q	ENST00000420696.2	37	c.361	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.057493	0.93846	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.5	5.5	0.81552	PBX (1);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.83483	2.645	0.09310	N	1.0	P;P;P;P;P	0.45531	0.624;0.645;0.86;0.795;0.645	B;P;P;P;P	0.53549	0.42;0.643;0.729;0.714;0.643	T	0.53507	-0.8429	9	0.49607	T	0.09	-16.0398	18.9768	0.92740	0.0:0.0:1.0:0.0	.	16;121;121;121;121	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	Q	121;121;121;121;121;16	ENSP00000341455:E121Q;ENSP00000405890:E121Q;ENSP00000356872:E121Q;ENSP00000439943:E121Q;ENSP00000384856:E121Q;ENSP00000440869:E16Q	ENSP00000341455:E121Q	E	+	1	0	PBX1	163028450	1.000000	0.71417	0.957000	0.39632	0.918000	0.54935	6.181000	0.71988	2.555000	0.86185	0.563000	0.77884	GAG	PBX1	-	pfam_PBX		0.627	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	G	NM_002585		164761826	1	no_errors	ENST00000420696	ensembl	human	known	70_37	missense	SNP	1.000	C	C	164761826	G	C	164761826	3	2	152	1	0	0	0	0	1	0	0	0	11516	1291	45	1	371	1	PBX1	1	164761826	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6025440	164761826	84488795	35	25609										
PRRX1	5396	genome.wustl.edu	37	chr1	170699449	170699449	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcccaagatgttgtttacacGaggggcttcataacggattc	10	9	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:170699449G>A	ENST00000239461.6	+	3	912				PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000367760.3_Missense_Mutation_p.E211K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTTTACACGAGGGGCTTCA	0.478																																																	0													198	197	197					1																	170699449		2203	4300	6503	SO:0001627	intron_variant	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.599+3907G>A	1.37:g.170699449G>A			B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E211K	ENST00000239461.6	37	c.631	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402367	0.62288	.	.	ENSG00000116132	ENST00000367760;ENST00000495280	D	0.90732	-2.72	5.67	5.67	0.87782	.	.	.	.	.	D	0.92054	0.7482	.	.	.	0.28156	N	0.929194	D	0.59767	0.986	D	0.68192	0.956	D	0.86646	0.1895	8	0.25751	T	0.34	.	16.4923	0.84205	0.0:0.0:1.0:0.0	.	211	P54821-2	.	K	211;56	ENSP00000356734:E211K	ENSP00000239461:E211K	E	+	1	0	PRRX1	168966073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.886000	0.56190	2.677000	0.91161	0.655000	0.94253	GAG	PRRX1	-	NULL		0.478	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	G	NM_006902		170699449	1	no_errors	ENST00000367760	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170699449	G	A	170699449	1	1	152	0	1	0	0	0	0	0	0	0	12639	1059	37	1		1	PRRX1	1	170699449	Intron	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5937623	170699449	78551172	36	25610										
TNN	63923	genome.wustl.edu	37	chr1	175086232	175086232	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gttccggtggggaaggagcaGagtagcactgtcctgacggg	18	8	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:175086232G>A	ENST00000239462.4	+	10	2390	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	759	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAAGGAGCAGAGTAGCACTG	0.647																																																	0													94	87	89					1																	175086232		2203	4300	6503	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2277G>A	1.37:g.175086232G>A			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.Q759	ENST00000239462.4	37	c.2277	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	G	XM_040527		175086232	1	no_errors	ENST00000239462	ensembl	human	known	70_37	silent	SNP	0.637	A	A	175086232	G	A	175086232	2	1	152	1	0	0	0	0	0	0	0	1	16353	933	33	1		1	TNN	1	175086232	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4386783	175086232	74164389	37	25611										
RALGPS2	55103	genome.wustl.edu	37	chr1	178855222	178855222	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgccatctcgaggccaagctGaaagttctactctttctagt	8	12	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:178855222G>A	ENST00000367635.3	+	13	1497	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.E387K	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	387					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGGCCAAGCTGAAAGTTCTAC	0.403																																																	0													79	81	80					1																	178855222		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1159G>A	1.37:g.178855222G>A	ENSP00000356607:p.Glu387Lys		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.E387K	ENST00000367635.3	37	c.1159	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694960	0.68386	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.45668	0.89;0.89;0.89	5.55	5.55	0.83447	.	0.246014	0.41194	D	0.000923	T	0.41373	0.1156	L	0.54323	1.7	0.80722	D	1	B;B	0.33964	0.434;0.434	B;B	0.31442	0.085;0.13	T	0.20638	-1.0269	10	0.29301	T	0.29	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	387;387	B7Z7B1;Q86X27	.;RGPS2_HUMAN	K	387;387;352;36	ENSP00000356607:E387K;ENSP00000356606:E387K;ENSP00000313613:E352K	ENSP00000313613:E352K	E	+	1	0	RALGPS2	177121845	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.255000	0.95524	2.623000	0.88846	0.655000	0.94253	GAA	RALGPS2	-	NULL		0.403	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	G	NM_152663		178855222	1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178855222	G	A	178855222	3	1	152	1	0	0	0	0	1	0	0	0	13048	1291	45	1	1205	1	RALGPS2	1	178855222	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3768990	178855222	70395399	38	25612										
RNASEL	6041	genome.wustl.edu	37	chr1	182555233	182555233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caggggagtcttccctctttCtcccctcacattgacatcag	7	15	5	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:182555233C>G	ENST00000367559.3	-	2	962	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	RNASEL_ENST00000444138.1_Missense_Mutation_p.E237Q|RNASEL_ENST00000539397.1_Missense_Mutation_p.E237Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	237	2-5A binding (P-loop) 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCCCTCTTTCTCCCCTCACA	0.512																																																	0													74	70	71					1																	182555233		2203	4300	6503	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.709G>C	1.37:g.182555233C>G	ENSP00000356530:p.Glu237Gln		Q5W0L2|Q6AI46	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.E237Q	ENST00000367559.3	37	c.709	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297972	0.60086	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.23147	1.92;1.92;1.92	4.58	3.67	0.42095	Ankyrin repeat-containing domain (4);	0.210741	0.33346	N	0.005007	T	0.33818	0.0876	L	0.36672	1.1	0.29122	N	0.880202	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.58577	0.841;0.841;0.571	T	0.13308	-1.0514	10	0.52906	T	0.07	-15.9476	12.1568	0.54081	0.0:0.915:0.0:0.085	.	237;237;237	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	Q	237	ENSP00000356530:E237Q;ENSP00000411147:E237Q;ENSP00000440844:E237Q	ENSP00000356530:E237Q	E	-	1	0	RNASEL	180821856	0.999000	0.42202	0.056000	0.19401	0.705000	0.40729	2.588000	0.46137	0.941000	0.37499	0.557000	0.71058	GAA	RNASEL	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.512	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	C	NM_021133		182555233	-1	no_errors	ENST00000367559	ensembl	human	known	70_37	missense	SNP	0.701	G	G	182555233	C	G	182555233	3	3	152	1	0	0	0	0	1	0	0	0	13446	922	32	1	1540	1	RNASEL	1	182555233	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3700011	182555233	66695388	39	25613										
C1orf14	81626	genome.wustl.edu	37	chr1	182869349	182869349	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atatgattattagtcatcttCaatttgggtgctggaagaac	9	5	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:182869349C>T	ENST00000367547.3	-	10	1967	c.1731G>A	c.(1729-1731)ttG>ttA	p.L577L	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.L458L	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	649										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TAGTCATCTTCAATTTGGGTG	0.284																																																	0													40	41	40					1																	182869349		2194	4294	6488	SO:0001819	synonymous_variant	81626			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1731G>A	1.37:g.182869349C>T			Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.L577	ENST00000367547.3	37	c.1731	CCDS30955.1	1																																																																																			SHCBP1L	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1		0.284	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	C	NM_030933		182869349	-1	no_errors	ENST00000367547	ensembl	human	known	70_37	silent	SNP	0.998	T	T	182869349	C	T	182869349	2	4	152	1	0	0	0	0	0	0	0	1	2005	825	29	1		1	C1orf14	1	182869349	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	314116	182869349	66381272	40	25614										
LAMC1	3915	genome.wustl.edu	37	chr1	183102564	183102564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgaacaagcgaagaacatctCacaggatctggaaaaacaag	9	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:183102564C>T	ENST00000258341.4	+	22	3985	c.3728C>T	c.(3727-3729)tCa>tTa	p.S1243L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1243	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAGAACATCTCACAGGATCTG	0.448																																																	0													135	131	133					1																	183102564		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3728C>T	1.37:g.183102564C>T	ENSP00000258341:p.Ser1243Leu		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S1243L	ENST00000258341.4	37	c.3728	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629096	0.28978	.	.	ENSG00000135862	ENST00000258341	T	0.20598	2.06	5.41	5.41	0.78517	.	0.057215	0.64402	D	0.000002	T	0.17916	0.0430	L	0.41236	1.265	0.54753	D	0.999989	B	0.12013	0.005	B	0.08055	0.003	T	0.09292	-1.0681	10	0.02654	T	1	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	1243	P11047	LAMC1_HUMAN	L	1243	ENSP00000258341:S1243L	ENSP00000258341:S1243L	S	+	2	0	LAMC1	181369187	1.000000	0.71417	0.960000	0.40013	0.966000	0.64601	6.965000	0.76067	2.692000	0.91855	0.563000	0.77884	TCA	LAMC1	-	NULL		0.448	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	C	NM_002293		183102564	1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183102564	C	T	183102564	3	4	152	1	0	0	0	0	1	0	0	0	8634	838	29	1	3814	1	LAMC1	1	183102564	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	233215	183102564	66148057	41	25615										
ASPM	259266	genome.wustl.edu	37	chr1	197112471	197112471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttgtgtaatgttcaaagttGaagaacagttgggggtaaga	13	2	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:197112471G>A	ENST00000367409.4	-	3	1167	c.911C>T	c.(910-912)tCa>tTa	p.S304L	ASPM_ENST00000294732.7_Missense_Mutation_p.S304L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	304					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTCAAAGTTGAAGAACAGTT	0.318																																																	0													73	74	73					1																	197112471		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.911C>T	1.37:g.197112471G>A	ENSP00000356379:p.Ser304Leu		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.S304L	ENST00000367409.4	37	c.911	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901598	0.33535	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59502	0.26;1.53	5.3	5.3	0.74995	.	0.000000	0.45606	D	0.000359	T	0.51584	0.1683	L	0.56769	1.78	0.34275	D	0.681499	B;B	0.31611	0.331;0.294	B;B	0.25884	0.064;0.038	T	0.63395	-0.6647	10	0.37606	T	0.19	.	13.6317	0.62200	0.0745:0.0:0.9255:0.0	.	304;304	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	304	ENSP00000356379:S304L;ENSP00000294732:S304L	ENSP00000294732:S304L	S	-	2	0	ASPM	195379094	0.984000	0.35163	1.000000	0.80357	0.321000	0.28281	2.116000	0.41930	2.636000	0.89361	0.637000	0.83480	TCA	ASPM	-	NULL		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197112471	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.994	A	A	197112471	G	A	197112471	3	1	152	1	0	0	0	0	1	0	0	0	1057	1294	45	1	9626	1	ASPM	1	197112471	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	14009907	197112471	52138150	42	25616										
DSTYK	25778	genome.wustl.edu	37	chr1	205128678	205128678	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcttgctctctccttaccttCagccctgtgtagagatcccg	7	15	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:205128678C>T	ENST00000367162.3	-	9	2265	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Silent_p.L745L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCCTTACCTTCAGCCCTGTGT	0.498																																																	0													41	37	38					1																	205128678		2203	4299	6502	SO:0001819	synonymous_variant	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2235G>A	1.37:g.205128678C>T			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L745	ENST00000367162.3	37	c.2235	CCDS1451.1	1																																																																																			DSTYK	-	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		0.498	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	C	NM_015375		205128678	-1	no_errors	ENST00000367162	ensembl	human	known	70_37	silent	SNP	0.996	T	T	205128678	C	T	205128678	2	4	152	1	0	0	0	0	0	0	0	1	4795	813	29	1		1	DSTYK	1	205128678	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8016207	205128678	44121943	43	25617										
MAPKAPK2	9261	genome.wustl.edu	37	chr1	206904053	206904053	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctccagaagtgctgggtccaGagaagtatgacaagtcctgt	12	9	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:206904053G>A	ENST00000367103.3	+	6	905	c.712G>A	c.(712-714)Gag>Aag	p.E238K	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.E238K	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GCTGGGTCCAGAGAAGTATGA	0.572																																																	0													134	123	127					1																	206904053		2203	4300	6503	SO:0001583	missense	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.712G>A	1.37:g.206904053G>A	ENSP00000356070:p.Glu238Lys		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E238K	ENST00000367103.3	37	c.712	CCDS31001.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969648	0.92855	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.64618	-0.11;-0.11	5.83	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.60405	0.2266	N	0.10760	0.04	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.961;0.999	T	0.59873	-0.7372	9	0.16896	T	0.51	-30.719	15.6615	0.77190	0.0:0.1376:0.8624:0.0	.	238;238	P49137;P49137-2	MAPK2_HUMAN;.	K	238	ENSP00000294981:E238K;ENSP00000356070:E238K	ENSP00000294981:E238K	E	+	1	0	MAPKAPK2	204970676	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	9.777000	0.99008	1.450000	0.47717	0.655000	0.94253	GAG	MAPKAPK2	-	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		0.572	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	G	NM_004759		206904053	1	no_errors	ENST00000367103	ensembl	human	known	70_37	missense	SNP	1.000	A	A	206904053	G	A	206904053	3	1	152	1	0	0	0	0	1	0	0	0	9312	943	33	1	734	1	MAPKAPK2	1	206904053	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1775375	206904053	42346568	44	25618										
SYT14	255928	genome.wustl.edu	37	chr1	210194437	210194437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	catcctctgaaagtgaagatGaagcgctgggtaaatatcat	10	7	2	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:210194437G>A	ENST00000472886.1	+	4	294	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SYT14_ENST00000367019.1_Missense_Mutation_p.E94K|SYT14_ENST00000534859.1_Missense_Mutation_p.E94K|SYT14_ENST00000367015.1_Missense_Mutation_p.E56K|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.E56K|SYT14_ENST00000399639.2_Missense_Mutation_p.E94K|SYT14_ENST00000422431.1_Missense_Mutation_p.E139K			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	94					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGTGAAGATGAAGCGCTGGG	0.393																																																	0													119	111	113					1																	210194437		2203	4300	6503	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.280G>A	1.37:g.210194437G>A	ENSP00000418901:p.Glu94Lys		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E139K	ENST00000472886.1	37	c.415	CCDS31014.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029333	0.93518	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.25250	2.93;2.78;1.81;3.04;2.81;3.07;3.04	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.76494	0.988;0.999;0.996;0.988	P;D;D;P	0.73708	0.761;0.922;0.981;0.778	T	0.38824	-0.9643	10	0.72032	D	0.01	-13.2581	19.5011	0.95095	0.0:0.0:1.0:0.0	.	122;94;94;139	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	K	139;94;94;56;94;94;56	ENSP00000389039:E139K;ENSP00000442891:E94K;ENSP00000445837:E94K;ENSP00000437423:E56K;ENSP00000355986:E94K;ENSP00000418901:E94K;ENSP00000355982:E56K	ENSP00000355982:E56K	E	+	1	0	SYT14	208261060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.054000	0.89451	2.687000	0.91594	0.650000	0.86243	GAA	SYT14	-	NULL		0.393	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	G	NM_153262		210194437	1	no_errors	ENST00000422431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	210194437	G	A	210194437	3	1	152	1	0	0	0	0	1	0	0	0	15500	1291	45	1	433	1	SYT14	1	210194437	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3290384	210194437	39056184	45	25619										
C1orf227	149643	genome.wustl.edu	37	chr1	213009360	213009360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aagtgcctcttttgaactctCagtaagctgacttgattgct	8	9	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:213009360C>T	ENST00000332912.3	-	2	239	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		44										kidney(1)|large_intestine(1)|lung(1)	3						TTTGAACTCTCAGTAAGCTGA	0.463																																																	0													192	177	182					1																	213009360		2203	4297	6500	SO:0001819	synonymous_variant	149643																														ENST00000332912.3:c.132G>A	1.37:g.213009360C>T				Silent	SNP	NULL	p.L44	ENST00000332912.3	37	c.132	CCDS31020.1	1																																																																																			C1orf227	-	NULL		0.463	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf227	HGNC	protein_coding	OTTHUMT00000089672.2	C			213009360	-1	no_errors	ENST00000332912	ensembl	human	known	70_37	silent	SNP	0.020	T	T	213009360	C	T	213009360	2	4	152	1	0	0	0	0	0	0	0	1	2038	813	29	1		1	C1orf227	1	213009360	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2814923	213009360	36241261	46	25620										
CENPF	1063	genome.wustl.edu	37	chr1	214816201	214816201	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agaacagacaggagatatgtCtcttttgagtaatttagaag	10	4	1	5	rs145589304	byFrequency	TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:214816201C>G	ENST00000366955.3	+	12	4688	c.4520C>G	c.(4519-4521)tCt>tGt	p.S1507C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1603	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGATATGTCTCTTTTGAGT	0.453																																					Colon(80;575 1284 11000 14801 43496)												0													46	47	47					1																	214816201		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4520C>G	1.37:g.214816201C>G	ENSP00000355922:p.Ser1507Cys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.S1507C	ENST00000366955.3	37	c.4520	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	1.637	-0.517485	0.04171	.	.	ENSG00000117724	ENST00000366955	T	0.33654	1.4	5.14	3.24	0.37175	.	0.476527	0.15742	N	0.246853	T	0.21921	0.0528	N	0.25485	0.75	0.09310	N	1	B	0.21225	0.053	B	0.14023	0.01	T	0.17048	-1.0382	10	0.44086	T	0.13	.	4.1431	0.10203	0.204:0.5801:0.1305:0.0854	.	1507	P49454	CENPF_HUMAN	C	1507	ENSP00000355922:S1507C	ENSP00000355922:S1507C	S	+	2	0	CENPF	212882824	0.005000	0.15991	0.004000	0.12327	0.070000	0.16714	1.447000	0.35101	0.539000	0.28788	0.655000	0.94253	TCT	CENPF	-	NULL		0.453	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214816201	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.002	G	G	214816201	C	G	214816201	3	3	152	1	0	0	0	0	1	0	0	0	3236	913	32	1	4562	1	CENPF	1	214816201	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1806841	214816201	34434420	47	25621										
KCTD3	51133	genome.wustl.edu	37	chr1	215760001	215760001	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcatcatcttgtggagtgttCaggatgggggaagtggaagt	17	4	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:215760001C>T	ENST00000259154.4	+	9	1084	c.790C>T	c.(790-792)Cag>Tag	p.Q264*		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	264					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTGGAGTGTTCAGGATGGGGG	0.393																																																	0													182	182	182					1																	215760001		2203	4300	6503	SO:0001587	stop_gained	51133			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.790C>T	1.37:g.215760001C>T	ENSP00000259154:p.Gln264*		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.Q264*	ENST00000259154.4	37	c.790	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.421629	0.98803	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.8499	19.1816	0.93625	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000259154:Q264X	Q	+	1	0	KCTD3	213826624	1.000000	0.71417	0.231000	0.23993	0.988000	0.76386	4.663000	0.61532	2.779000	0.95612	0.591000	0.81541	CAG	KCTD3	-	superfamily_WD40_repeat_dom		0.393	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	C	NM_016121		215760001	1	no_errors	ENST00000259154	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	215760001	C	T	215760001	4	4	152	1	0	0	0	0	0	1	0	0	8130	827	29	1	824	1	KCTD3	1	215760001	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	943800	215760001	33490620	48	25622										
CNIH3	149111	genome.wustl.edu	37	chr1	224918244	224918244	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagtggctcacgctggggctGaatgtccctctacttttcta	11	11	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:224918244G>T	ENST00000272133.3	+	4	1161	c.279G>T	c.(277-279)ctG>ctT	p.L93L	RP11-3L21.2_ENST00000431691.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	93					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CGCTGGGGCTGAATGTCCCTC	0.517																																																	0													134	107	116					1																	224918244		2197	4282	6479	SO:0001819	synonymous_variant	149111			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.279G>T	1.37:g.224918244G>T				Silent	SNP	pfam_Cornichon	p.L93	ENST00000272133.3	37	c.279	CCDS1544.1	1																																																																																			CNIH3	-	pfam_Cornichon		0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNIH3	HGNC	protein_coding	OTTHUMT00000091752.2	G	NM_152495		224918244	1	no_errors	ENST00000272133	ensembl	human	known	70_37	silent	SNP	0.997	T	T	224918244	G	T	224918244	2	4	152	1	0	0	0	0	0	0	0	1	3609	1277	45	3		3	CNIH3	1	224918244	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9158243	224918244	24332377	49	25623										
C1orf55	163859	genome.wustl.edu	37	chr1	226180117	226180117	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acctttgaggacggaatcctCcagacgctcagccatctcat	8	14	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:226180117C>G	ENST00000272091.7	-	4	520	c.502G>C	c.(502-504)Gag>Cag	p.E168Q		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	168																	ACGGAATCCTCCAGACGCTCA	0.562																																																	0													81	80	80					1																	226180117		1958	4171	6129	SO:0001583	missense	163859			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.502G>C	1.37:g.226180117C>G	ENSP00000272091:p.Glu168Gln		A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	superfamily_Mopterin_synth/thiamin_S_b	p.E168Q	ENST00000272091.7	37	c.502	CCDS41473.1	1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930233	0.73327	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.62232	0.74;0.04	5.35	4.43	0.53597	.	0.108809	0.64402	D	0.000002	T	0.77046	0.4073	M	0.69823	2.125	0.53688	D	0.999973	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.932	T	0.77056	-0.2729	10	0.38643	T	0.18	-11.0773	15.3915	0.74747	0.1405:0.8594:0.0:0.0	.	156;168	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	Q	168;156;73	ENSP00000272091:E168Q;ENSP00000355782:E73Q	ENSP00000272091:E168Q	E	-	1	0	C1orf55	224246740	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.729000	0.84864	1.250000	0.43966	-0.187000	0.12897	GAG	SDE2	-	NULL		0.562	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDE2	HGNC	protein_coding	OTTHUMT00000091310.1	C	NM_152608		226180117	-1	no_errors	ENST00000272091	ensembl	human	known	70_37	missense	SNP	1.000	G	G	226180117	C	G	226180117	3	3	152	1	0	0	0	0	1	0	0	0	2052	864	30	1	869	1	C1orf55	1	226180117	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1261873	226180117	23070504	50	25624										
OBSCN	84033	genome.wustl.edu	37	chr1	228539032	228539032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggattccaggtggtacaagGacggggccctgctgaccact	14	11	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:228539032G>T	ENST00000422127.1	+	78	18474	c.18430G>T	c.(18430-18432)Gac>Tac	p.D6144Y	OBSCN_ENST00000366707.4_Missense_Mutation_p.D3778Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D6144Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.D7101Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D3263Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6144	Ig-like 53.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGTACAAGGACGGGGCCCT	0.642																																																	0													24	30	28					1																	228539032		2073	4164	6237	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18430G>T	1.37:g.228539032G>T	ENSP00000409493:p.Asp6144Tyr		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D6144Y	ENST00000422127.1	37	c.18430	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.913363|3.913363	0.72983|0.72983	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709|ENST00000441106	T;T;T;T|.	0.75938|.	-0.98;1.25;-0.98;1.25|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.86640|0.86640	0.5981|0.5981	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.983|.	D|D	0.89750|0.89750	0.3939|0.3939	10|5	0.87932|.	D|.	0|.	.|.	19.0276|19.0276	0.92939|0.92939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6144;6144|.	Q5VST9;Q5VST9-3|.	OBSCN_HUMAN;.|.	Y|V	6144;6144;3778;3263|760	ENSP00000284548:D6144Y;ENSP00000409493:D6144Y;ENSP00000355668:D3778Y;ENSP00000355670:D3263Y|.	ENSP00000284548:D6144Y|.	D|G	+|+	1|2	0|0	OBSCN|OBSCN	226605655|226605655	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.076000|0.076000	0.17211|0.17211	6.239000|6.239000	0.72356|0.72356	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GAC|GGA	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228539032	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	T	T	228539032	G	T	228539032	3	4	152	1	0	0	0	0	1	0	0	0	10836	1174	41	3	18736	3	OBSCN	1	228539032	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2358915	228539032	20711589	51	25625										
LYST	1130	genome.wustl.edu	37	chr1	235944211	235944211	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcttggtcataaaaagttctCtgatttgttcacatcgcaaa	6	8	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:235944211C>G	ENST00000389794.3	-	16	5342	c.5168G>C	c.(5167-5169)aGa>aCa	p.R1723T	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R1723T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1723					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAAAGTTCTCTGATTTGTTC	0.284																																																	0													36	38	37					1																	235944211		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5168G>C	1.37:g.235944211C>G	ENSP00000374444:p.Arg1723Thr		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1723T	ENST00000389794.3	37	c.5168	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215819	0.58452	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61980	0.06;0.06	5.05	5.05	0.67936	.	0.258102	0.44483	D	0.000445	T	0.54334	0.1852	L	0.54323	1.7	0.80722	D	1	P	0.45348	0.856	B	0.41440	0.357	T	0.58008	-0.7712	10	0.49607	T	0.09	.	6.8928	0.24238	0.0:0.7811:0.0:0.2189	.	1723	Q99698	LYST_HUMAN	T	1723	ENSP00000374444:R1723T;ENSP00000374443:R1723T	ENSP00000374443:R1723T	R	-	2	0	LYST	234010834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.808000	0.47963	2.506000	0.84524	0.467000	0.42956	AGA	LYST	-	superfamily_ARM-type_fold		0.284	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	C			235944211	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	1.000	G	G	235944211	C	G	235944211	3	3	152	1	0	0	0	0	1	0	0	0	9151	913	32	1	6389	1	LYST	1	235944211	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	7405179	235944211	13306410	52	25626										
AHCTF1	25909	genome.wustl.edu	37	chr1	247024352	247024352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acagtctcttcaaggtcttcCggtgacggtgcatcctgata	10	11	3	2	rs144994178	byFrequency	TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr1:247024352C>T	ENST00000391829.2	-	29	4104	c.3981G>A	c.(3979-3981)ccG>ccA	p.P1327P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.P1362P|AHCTF1_ENST00000326225.3_Silent_p.P1336P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1327	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGGTCTTCCGGTGACGGTG	0.438																																					Colon(145;197 1800 4745 15099 26333)												0								C		2,4404	4.2+/-10.8	0,2,2201	99	87	91		4008	-1.1	0.2	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AHCTF1	NM_015446.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		1336/2276	247024352	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3981G>A	1.37:g.247024352C>T			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.P1336	ENST00000391829.2	37	c.4008		1																																																																																			AHCTF1	-	NULL		0.438	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247024352	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	silent	SNP	0.791	T	T	247024352	C	T	247024352	2	4	152	1	0	0	0	0	0	0	0	1	408	639	23	2		2	AHCTF1	1	247024352	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	11080141	247024352	2226269	53	25627										
CMPK2	129607	genome.wustl.edu	37	chr2	7003658	7003658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttctggatctgttttgggcActggtcgaccaggtcaagca	12	9	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:7003658A>G	ENST00000256722.5	-	2	726	c.727T>C	c.(727-729)Tgc>Cgc	p.C243R	CMPK2_ENST00000404168.1_Missense_Mutation_p.C243R|CMPK2_ENST00000458098.1_Missense_Mutation_p.C243R|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	243					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTTTTGGGCACTGGTCGACC	0.473																																																	0													116	117	117					2																	7003658		1899	4116	6015	SO:0001583	missense	129607				CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.727T>C	2.37:g.7003658A>G	ENSP00000256722:p.Cys243Arg		A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	pirsf_UMP-CMP_kinase_mit	p.C243R	ENST00000256722.5	37	c.727	CCDS42648.1	2	.	.	.	.	.	.	.	.	.	.	A	5.876	0.345788	0.11126	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	T	0.45668	0.89	5.21	5.21	0.72293	.	0.248768	0.40908	D	0.000990	T	0.33731	0.0873	L	0.41710	1.295	0.58432	D	0.999999	P;P	0.44090	0.762;0.826	B;B	0.41571	0.36;0.196	T	0.11324	-1.0592	10	0.07325	T	0.83	-21.7121	15.0828	0.72127	1.0:0.0:0.0:0.0	.	243;243	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	R	243	ENSP00000256722:C243R	ENSP00000256722:C243R	C	-	1	0	CMPK2	6921109	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.106000	0.57804	1.968000	0.57251	0.455000	0.32223	TGC	CMPK2	-	pirsf_UMP-CMP_kinase_mit		0.473	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CMPK2	HGNC	protein_coding	OTTHUMT00000323339.2	A	NM_207315		7003658	-1	no_errors	ENST00000458098	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7003658	A	G	7003658	3	3	152	1	0	0	0	0	1	0	0	0	3586	159	6	5	638	5	CMPK2	2	7003658	Missense_Mutation	SNP	A	TCGA-IR-A3LI-01A-11D-A20U-09		7003658	236195715	54	25628										
NBAS	51594	genome.wustl.edu	37	chr2	15307270	15307270	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagagacccggcttcggcttCatggccggcctcccgcaggt	14	15	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:15307270C>A	ENST00000281513.5	-	52	7043	c.7018G>T	c.(7018-7020)Gaa>Taa	p.E2340*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.E2220*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2340					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCTTCGGCTTCATGGCCGGCC	0.632																																																	0													40	44	43					2																	15307270		2203	4300	6503	SO:0001587	stop_gained	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.7018G>T	2.37:g.15307270C>A	ENSP00000281513:p.Glu2340*		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.E2340*	ENST00000281513.5	37	c.7018	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.994952|8.994952	0.99029|0.99029	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	.|.	.|.	.|.	5.19|5.19	-3.62|-3.62	0.04543|0.04543	.|.	1.009800|.	0.07919|.	N|.	0.975638|.	.|T	.|0.50650	.|0.1628	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47886	.|-0.9082	.|4	0.87932|.	D|.	0|.	.|.	7.4804|7.4804	0.27402|0.27402	0.0:0.2969:0.3986:0.3044|0.0:0.2969:0.3986:0.3044	.|.	.|.	.|.	.|.	X|I	2220;2340;153|1387	.|.	ENSP00000281513:E2340X|.	E|M	-|-	1|3	0|0	NBAS|NBAS	15224721|15224721	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.736000|0.736000	0.26130|0.26130	-0.604000|-0.604000	0.05760|0.05760	-1.934000|-1.934000	0.00508|0.00508	GAA|ATG	NBAS	-	NULL		0.632	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15307270	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	15307270	C	A	15307270	4	1	152	1	0	0	0	0	0	1	0	0	10209	835	29	3	101	3	NBAS	2	15307270	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8303612	15307270	227892103	55	25629										
ADCY3	109	genome.wustl.edu	37	chr2	25095469	25095469	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctctgctcttccaggttcatCttcacctccagcgactggcg	8	16	5	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:25095469C>T	ENST00000260600.5	-	2	1646	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	265					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCAGGTTCATCTTCACCTCCA	0.632																																																	0													97	100	99					2																	25095469		2203	4300	6503	SO:0001819	synonymous_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.795G>A	2.37:g.25095469C>T			B3KT86|Q53T54|Q9UDB1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K265	ENST00000260600.5	37	c.795	CCDS1715.1	2																																																																																			ADCY3	-	NULL		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	C			25095469	-1	no_errors	ENST00000260600	ensembl	human	known	70_37	silent	SNP	1.000	T	T	25095469	C	T	25095469	2	4	152	1	0	0	0	0	0	0	0	1	295	912	32	1		1	ADCY3	2	25095469	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9788199	25095469	218103904	56	25630										
PREPL	9581	genome.wustl.edu	37	chr2	44586667	44586667	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agctccgacttgggatgtttCttgctaactctgatatcttg	9	9	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:44586667C>T	ENST00000409936.1	-	2	625	c.188G>A	c.(187-189)aGa>aAa	p.R63K	CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000410081.1_Missense_Mutation_p.R63K|PREPL_ENST00000260648.6_Missense_Mutation_p.R63K|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000378511.3_Missense_Mutation_p.R63K|CAMKMT_ENST00000378494.3_5'Flank|CAMKMT_ENST00000407131.1_5'Flank|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000378520.3_Missense_Mutation_p.R63K|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.R63K	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	63						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGGATGTTTCTTGCTAACTC	0.308																																																	0													151	152	152					2																	44586667		2203	4300	6503	SO:0001583	missense	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.188G>A	2.37:g.44586667C>T	ENSP00000386543:p.Arg63Lys		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.R63K	ENST00000409936.1	37	c.188	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676552	0.88445	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	5.27	0.74061	.	0.285555	0.30686	N	0.009090	T	0.47655	0.1457	N	0.08118	0	0.80722	D	1	D;D;D	0.61697	0.959;0.99;0.983	D;D;P	0.72982	0.937;0.979;0.708	T	0.35847	-0.9772	9	0.06365	T	0.9	-7.2031	14.2767	0.66184	0.0:1.0:0.0:0.0	.	63;63;63	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	K	63	.	ENSP00000260648:R63K	R	-	2	0	PREPL	44440171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.235000	0.51328	2.735000	0.93741	0.655000	0.94253	AGA	PREPL	-	NULL		0.308	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	C	NM_006036		44586667	-1	no_errors	ENST00000260648	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44586667	C	T	44586667	3	4	152	1	0	0	0	0	1	0	0	0	12502	913	32	1	2051	1	PREPL	2	44586667	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	19491198	44586667	198612706	57	25631										
NRXN1	9378	genome.wustl.edu	37	chr2	50573974	50573974	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggaggccgctgagggtgagCgggactatccaaagcagggc	18	9	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:50573974C>T	ENST00000406316.2	-	18	4841				NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000342183.5_Silent_p.P38P|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAGGGTGAGCGGGACTATCC	0.726																																																	0													30	26	27					2																	50573974		2202	4300	6502	SO:0001627	intron_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109866G>A	2.37:g.50573974C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.P38	ENST00000406316.2	37	c.114	CCDS54360.1	2																																																																																			NRXN1	-	NULL		0.726	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50573974	-1	no_errors	ENST00000342183	ensembl	human	known	70_37	silent	SNP	0.992	T	T	50573974	C	T	50573974	1	4	152	0	1	0	0	0	0	0	0	0	10689	755	27	2		2	NRXN1	2	50573974	Intron	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5987307	50573974	192625399	58	25632										
ASB3	100302652	genome.wustl.edu	37	chr2	53897777	53897777	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccgtagacgttctgattttaGactggaccgaatttccaaac	8	10	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:53897777G>C	ENST00000263634.3	-	10	1554	c.1420C>G	c.(1420-1422)Cta>Gta	p.L474V	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.L401V|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.L512V|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.L509V|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.L401V	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.L474L(1)									TCTGATTTTAGACTGGACCGA	0.403																																																	1	Substitution - coding silent(1)	lung(1)											74	71	72					2																	53897777		2203	4300	6503	SO:0001583	missense	51130				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1420C>G	2.37:g.53897777G>C	ENSP00000263634:p.Leu474Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L512V	ENST00000263634.3	37	c.1534	CCDS1846.1	2	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953457	0.34471	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.54	4.66	0.58398	SOCS protein, C-terminal (3);	0.085575	0.48286	D	0.000194	T	0.42720	0.1215	L	0.41906	1.305	0.32173	N	0.581407	B;B	0.20887	0.049;0.049	B;B	0.25405	0.06;0.06	T	0.51387	-0.8712	9	0.29301	T	0.29	-3.5745	10.1042	0.42524	0.0925:0.0:0.9075:0.0	.	509;474	Q2TAI4;Q9Y575	.;ASB3_HUMAN	V	474;509;401;401;512;393	ENSP00000263634:L474V;ENSP00000385085:L509V;ENSP00000384728:L401V;ENSP00000378206:L401V;ENSP00000313756:L512V	ENSP00000263634:L474V	L	-	1	2	ASB3	53751281	0.964000	0.33143	0.997000	0.53966	0.970000	0.65996	1.467000	0.35321	1.319000	0.45190	0.563000	0.77884	CTA	ASB3	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.403	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB3	HGNC	protein_coding	OTTHUMT00000251402.3	G			53897777	-1	no_errors	ENST00000352846	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53897777	G	C	53897777	3	2	152	1	0	0	0	0	1	0	0	0	1025	933	33	1	140	1	ASB3	2	53897777	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3323803	53897777	189301596	59	25633										
SMEK2	57223	genome.wustl.edu	37	chr2	55844379	55844379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtcgtcccattgccggtcttCgttcagggtatagaccttca	10	12	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:55844379C>T	ENST00000345102.5	-	1	344	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	SMEK2_ENST00000477749.1_5'UTR|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Missense_Mutation_p.E15K|SMEK2_ENST00000272313.5_Missense_Mutation_p.E15K	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	15	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGCCGGTCTTCGTTCAGGGTA	0.652																																																	0													76	64	68					2																	55844379		2203	4300	6503	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.43G>A	2.37:g.55844379C>T	ENSP00000339769:p.Glu15Lys		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E15K	ENST00000345102.5	37	c.43	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897587	0.91962	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.43688	0.94;0.94;0.94	5.06	5.06	0.68205	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	M	0.64567	1.98	0.80722	D	1	P;P;B	0.50710	0.938;0.5;0.237	B;B;B	0.43701	0.428;0.102;0.036	T	0.50259	-0.8849	10	0.45353	T	0.12	-10.7814	18.6177	0.91308	0.0:1.0:0.0:0.0	.	15;15;15	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	K	15	ENSP00000272313:E15K;ENSP00000385912:E15K;ENSP00000339769:E15K	ENSP00000272313:E15K	E	-	1	0	SMEK2	55697883	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.345000	0.79337	2.636000	0.89361	0.561000	0.74099	GAA	SMEK2	-	NULL		0.652	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	C	NM_020463		55844379	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55844379	C	T	55844379	3	4	152	1	0	0	0	0	1	0	0	0	14824	893	31	1	2574	1	SMEK2	2	55844379	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1946602	55844379	187354994	60	25634										
ALMS1	7840	genome.wustl.edu	37	chr2	73676904	73676904	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagccttccctggaccagctGaccagatgactgacacacca	8	16	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:73676904G>A	ENST00000264448.6	+	8	3358	c.3247G>A	c.(3247-3249)Gac>Aac	p.D1083N	ALMS1_ENST00000377715.1_Missense_Mutation_p.D1083N|ALMS1_ENST00000409009.1_Missense_Mutation_p.D1041N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1083	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGACCAGCTGACCAGATGAC	0.493																																																	0													103	106	105					2																	73676904		1924	4131	6055	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3247G>A	2.37:g.73676904G>A	ENSP00000264448:p.Asp1083Asn		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.D1083N	ENST00000264448.6	37	c.3247	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291372	0.59976	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18174	3.11;3.11;2.23	4.39	4.39	0.52855	.	1.147770	0.06413	N	0.720969	T	0.34483	0.0899	L	0.36672	1.1	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.996	D;D;P	0.74348	0.983;0.96;0.894	T	0.35822	-0.9773	10	0.59425	D	0.04	.	12.7635	0.57378	0.0:0.0:1.0:0.0	.	1083;1041;1083	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	1041;1083;1083	ENSP00000386627:D1041N;ENSP00000264448:D1083N;ENSP00000366944:D1083N	ENSP00000264448:D1083N	D	+	1	0	ALMS1	73530412	0.133000	0.22466	0.111000	0.21465	0.009000	0.06853	2.409000	0.44583	2.728000	0.93425	0.591000	0.81541	GAC	ALMS1	-	NULL		0.493	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73676904	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.130	A	A	73676904	G	A	73676904	3	1	152	1	0	0	0	0	1	0	0	0	535	1290	45	1	3277	1	ALMS1	2	73676904	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	17832525	73676904	169522469	61	25635										
CNNM4	26504	genome.wustl.edu	37	chr2	97475253	97475253	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcccacgagaatgccatctGacaggagggcccggggcccc	13	16	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:97475253G>A	ENST00000377075.2	+	7	2425	c.2327G>A	c.(2326-2328)tGa>tAa	p.*776*	CNNM4_ENST00000540067.1_3'UTR|RP11-353K11.1_ENST00000608609.1_lincRNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	0					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AATGCCATCTGACAGGAGGGC	0.602																																																	0													60	53	55					2																	97475253		2203	4300	6503	SO:0001819	synonymous_variant	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2327G>A	2.37:g.97475253G>A			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.*776	ENST00000377075.2	37	c.2327	CCDS2024.2	2																																																																																			CNNM4	-	NULL		0.602	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	G	NM_020184		97475253	1	no_errors	ENST00000377075	ensembl	human	known	70_37	silent	SNP	1.000	A	A	97475253	G	A	97475253	2	1	152	1	0	0	0	0	0	0	0	1	3620	1285	45	1		1	CNNM4	2	97475253	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	23798349	97475253	145724120	62	25636										
SLC9A2	6549	genome.wustl.edu	37	chr2	103322309	103322309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tatatttcttttacaggcttCcacttcaacctcccgatatt	3	12	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:103322309C>T	ENST00000233969.2	+	11	2124	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	661					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTACAGGCTTCCACTTCAACC	0.294																																																	0													46	51	49					2																	103322309		2198	4296	6494	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1982C>T	2.37:g.103322309C>T	ENSP00000233969:p.Ser661Phe		B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S661F	ENST00000233969.2	37	c.1982	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157334	0.57259	.	.	ENSG00000115616	ENST00000233969	T	0.56776	0.44	6.06	6.06	0.98353	.	0.200970	0.44285	D	0.000469	T	0.46367	0.1389	L	0.29908	0.895	0.44388	D	0.99729	B	0.06786	0.001	B	0.04013	0.001	T	0.27640	-1.0068	10	0.56958	D	0.05	.	19.6125	0.95613	0.0:1.0:0.0:0.0	.	661	Q9UBY0	SL9A2_HUMAN	F	661	ENSP00000233969:S661F	ENSP00000233969:S661F	S	+	2	0	SLC9A2	102688741	0.991000	0.36638	0.989000	0.46669	0.952000	0.60782	3.226000	0.51254	2.879000	0.98667	0.650000	0.86243	TCC	SLC9A2	-	NULL		0.294	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103322309	1	no_errors	ENST00000233969	ensembl	human	known	70_37	missense	SNP	0.999	T	T	103322309	C	T	103322309	3	4	152	1	0	0	0	0	1	0	0	0	14742	855	30	1	2024	1	SLC9A2	2	103322309	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5847056	103322309	139877064	63	25637										
GPR45	11250	genome.wustl.edu	37	chr2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctggagaatcaaaaaattccGcgaggcctgcatagagttgc	11	9	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:105859310G>A	ENST00000258456.1	+	1	1111	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R332H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAAAAATTCCGCGAGGCCTGC	0.557																																																	1	Substitution - Missense(1)	stomach(1)											82	87	85					2																	105859310		2203	4300	6503	SO:0001583	missense	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.995G>A	2.37:g.105859310G>A	ENSP00000258456:p.Arg332His		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R332H	ENST00000258456.1	37	c.995	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012829	0.54468	.	.	ENSG00000135973	ENST00000258456	T	0.58358	0.34	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.28115	0.83	0.54753	D	0.999987	P	0.51240	0.943	P	0.47786	0.557	T	0.40924	-0.9537	10	0.33940	T	0.23	-27.9142	17.2936	0.87163	0.0:0.0:1.0:0.0	.	332	Q9Y5Y3	GPR45_HUMAN	H	332	ENSP00000258456:R332H	ENSP00000258456:R332H	R	+	2	0	GPR45	105225742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.545000	0.73883	2.696000	0.92011	0.456000	0.33151	CGC	GPR45	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.557	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	G	NM_007227		105859310	1	no_errors	ENST00000258456	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105859310	G	A	105859310	3	1	152	1	0	0	0	0	1	0	0	0	6715	1087	38	2	997	2	GPR45	2	105859310	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2537001	105859310	137340063	64	25638										
IMP4	92856	genome.wustl.edu	37	chr2	131103843	131103843	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtcgggccccgctttgagctGaagcgtgagtttgaggctga	16	9	0	5			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:131103843G>A	ENST00000259239.3	+	8	1467	c.759G>A	c.(757-759)ctG>ctA	p.L253L	IMP4_ENST00000409935.1_Intron	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	253	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GCTTTGAGCTGAAGCGTGAGT	0.612																																																	0													88	77	80					2																	131103843		2203	4300	6503	SO:0001819	synonymous_variant	92856			BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.759G>A	2.37:g.131103843G>A			Q3ZTT3	Silent	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.L253	ENST00000259239.3	37	c.759	CCDS2160.1	2																																																																																			IMP4	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix		0.612	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMP4	HGNC	protein_coding	OTTHUMT00000254520.2	G	NM_033416		131103843	1	no_errors	ENST00000259239	ensembl	human	known	70_37	silent	SNP	0.985	A	A	131103843	G	A	131103843	2	1	152	1	0	0	0	0	0	0	0	1	7740	1277	45	1		1	IMP4	2	131103843	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	25244533	131103843	112095530	65	25639										
KYNU	8942	genome.wustl.edu	37	chr2	143799741	143799741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctgcagaaacaaaaaattaGcagtgttttctagaacaact	6	7	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:143799741G>A	ENST00000264170.4	+	14	1656	c.1398G>A	c.(1396-1398)taG>taA	p.*466*	KYNU_ENST00000409512.1_Silent_p.*466*	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CAAAAAATTAGCAGTGTTTTC	0.323																																																	0													63	66	65					2																	143799741		2203	4300	6503	SO:0001819	synonymous_variant	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1398G>A	2.37:g.143799741G>A				Silent	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	p.*466	ENST00000264170.4	37	c.1398	CCDS2183.1	2																																																																																			KYNU	-	NULL		0.323	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000254772.1	G	NM_001032998		143799741	1	no_errors	ENST00000264170	ensembl	human	known	70_37	silent	SNP	0.000	A	A	143799741	G	A	143799741	2	1	152	1	0	0	0	0	0	0	0	1	8607	966	34	4		4	KYNU	2	143799741	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	12695898	143799741	99399632	66	25640										
ACVR1C	130399	genome.wustl.edu	37	chr2	158406726	158406726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttttcatgtcgcagcatgacCgtctggtaaatttctgcctc	8	11	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:158406726C>T	ENST00000243349.8	-	4	1083	c.723G>A	c.(721-723)acG>acA	p.T241T	ACVR1C_ENST00000335450.7_Silent_p.T161T|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Silent_p.T191T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GCAGCATGACCGTCTGGTAAA	0.423																																																	0													153	150	151					2																	158406726		2203	4300	6503	SO:0001819	synonymous_variant	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.723G>A	2.37:g.158406726C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T241	ENST00000243349.8	37	c.723	CCDS2205.1	2																																																																																			ACVR1C	-	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		0.423	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	C	NM_145259		158406726	-1	no_errors	ENST00000243349	ensembl	human	known	70_37	silent	SNP	0.014	T	T	158406726	C	T	158406726	2	4	152	1	0	0	0	0	0	0	0	1	222	639	23	2		2	ACVR1C	2	158406726	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	14606985	158406726	84792647	67	25641										
SCN3A	6328	genome.wustl.edu	37	chr2	165956849	165956849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggataaggctcttagaggtCttaaagctcttaatgtccgt	11	7	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:165956849C>G	ENST00000360093.3	-	22	4420	c.3929G>C	c.(3928-3930)aGa>aCa	p.R1310T	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1310T|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1261T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1310					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTAGAGGTCTTAAAGCTCT	0.388																																																	0													83	82	82					2																	165956849		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3929G>C	2.37:g.165956849C>G	ENSP00000353206:p.Arg1310Thr		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R1310T	ENST00000360093.3	37	c.3929		2	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204433	0.58234	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.35	4.46	0.54185	Ion transport (1);	0.085246	0.51477	D	0.000098	D	0.99883	0.9944	H	0.99990	5.32	0.80722	D	1	D;P;B;B;D	0.89917	1.0;0.474;0.288;0.288;1.0	D;B;B;B;D	0.97110	1.0;0.259;0.109;0.109;1.0	D	0.95718	0.8764	10	0.87932	D	0	.	16.3215	0.82952	0.0:0.8674:0.1326:0.0	.	1310;1261;1261;1261;1310	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	T	1310;1310;1261;1261	ENSP00000353206:R1310T;ENSP00000283254:R1310T;ENSP00000386726:R1261T;ENSP00000403348:R1261T	ENSP00000283254:R1310T	R	-	2	0	SCN3A	165665095	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	7.776000	0.85560	1.375000	0.46248	-0.274000	0.10170	AGA	SCN3A	-	pfam_Ion_trans_dom		0.388	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		C	NM_006922		165956849	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	G	G	165956849	C	G	165956849	3	3	152	1	0	0	0	0	1	0	0	0	13948	913	32	1	2101	1	SCN3A	2	165956849	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	7550123	165956849	77242524	68	25642										
RAPGEF4	11069	genome.wustl.edu	37	chr2	173882163	173882163	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgtttttacagcacaaggttCttttgcaacagttcaatacg	7	8	2	0	rs17853965		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:173882163C>G	ENST00000397081.3	+	21	2082	c.1939C>G	c.(1939-1941)Ctt>Gtt	p.L647V	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.L494V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.L647V|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.L503V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.L427V|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.L494V|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.L476V|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.L646V	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	647				L -> I (in Ref. 5; AAH40183). {ECO:0000305}.	blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCACAAGGTTCTTTTGCAACA	0.493																																																	0													86	81	83					2																	173882163		1923	4128	6051	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1939C>G	2.37:g.173882163C>G	ENSP00000380271:p.Leu647Val		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L647V	ENST00000397081.3	37	c.1939	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237686	0.39598	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.46	5.46	0.80206	Ras guanine nucleotide exchange factor, domain (1);	0.169731	0.53938	D	0.000057	T	0.39489	0.1080	L	0.59436	1.845	0.49915	D	0.999834	B;B	0.17465	0.022;0.002	B;B	0.18561	0.022;0.004	T	0.13469	-1.0508	10	0.29301	T	0.29	.	19.7373	0.96212	0.0:1.0:0.0:0.0	.	503;647	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	V	646;647;647;503;476;494;494;427	ENSP00000264111:L646V;ENSP00000380271:L647V;ENSP00000387104:L647V;ENSP00000380276:L503V;ENSP00000440135:L476V;ENSP00000440250:L494V;ENSP00000437384:L494V;ENSP00000438011:L427V	ENSP00000264111:L646V	L	+	1	0	RAPGEF4	173590409	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.604000	0.61112	2.753000	0.94483	0.555000	0.69702	CTT	RAPGEF4	-	superfamily_Ras_GEF_dom		0.493	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	C	NM_007023		173882163	1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	G	G	173882163	C	G	173882163	3	3	152	1	0	0	0	0	1	0	0	0	13076	913	32	1	2037	1	RAPGEF4	2	173882163	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	7925314	173882163	69317210	69	25643										
TTN	7273	genome.wustl.edu	37	chr2	179486627	179486627	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttcacaggaatattcagcttCatcatccagtagacatttgt	6	9	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:179486627C>A	ENST00000591111.1	-	194	40323	c.40099G>T	c.(40099-40101)Gaa>Taa	p.E13367*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E6068*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5943*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E6135*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E15008*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E12440*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13367	Ig-like 89.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCAGCTTCATCATCCAGT	0.398																																																	0													145	134	138					2																	179486627		1942	4138	6080	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40099G>T	2.37:g.179486627C>A	ENSP00000465570:p.Glu13367*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12440*	ENST00000591111.1	37	c.37318		2	.	.	.	.	.	.	.	.	.	.	C	58	31.455376	0.99979	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	12440;5943;6135;6068;5943	.	ENSP00000340554:E6135X	E	-	1	0	TTN	179194872	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.767000	0.85331	2.734000	0.93682	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486627	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	179486627	C	A	179486627	4	1	152	1	0	0	0	0	0	1	0	0	16766	835	29	3	63147	3	TTN	2	179486627	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5604464	179486627	63712746	70	25644										
TTN	7273	genome.wustl.edu	37	chr2	179501396	179501396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgatgtctttgatttctttCacaaacttcagtggcacagc	7	9	4	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:179501396C>T	ENST00000591111.1	-	175	36359	c.36135G>A	c.(36133-36135)gtG>gtA	p.V12045V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V4746V|TTN_ENST00000460472.2_Silent_p.V4621V|TTN_ENST00000342175.6_Silent_p.V4813V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.V13686V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.V11118V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12045	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCTTTCACAAACTTCA	0.463																																																	0													82	80	81					2																	179501396		1921	4143	6064	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36135G>A	2.37:g.179501396C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V11118	ENST00000591111.1	37	c.33354		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179501396	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179501396	C	T	179501396	2	4	152	1	0	0	0	0	0	0	0	1	16766	813	29	1		1	TTN	2	179501396	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	14769	179501396	63697977	71	25645										
TTN	7273	genome.wustl.edu	37	chr2	179659263	179659263	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgcaacagctgcacttttgtCagcatcttgtttcacctaga	7	12	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:179659263C>T	ENST00000591111.1	-	8	1485	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N	TTN_ENST00000359218.5_Missense_Mutation_p.D421N|TTN_ENST00000460472.2_Missense_Mutation_p.D421N|TTN_ENST00000342175.6_Missense_Mutation_p.D421N|TTN_ENST00000589042.1_Missense_Mutation_p.D421N|TTN_ENST00000342992.6_Missense_Mutation_p.D421N|TTN_ENST00000360870.5_Missense_Mutation_p.D421N			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTTTGTCAGCATCTTGT	0.433																																																	0													120	112	115					2																	179659263		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1261G>A	2.37:g.179659263C>T	ENSP00000465570:p.Asp421Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D421N	ENST00000591111.1	37	c.1261		2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340532	0.60963	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.99	5.99	0.97316	Titin Z (1);	.	.	.	.	T	0.42653	0.1212	N	0.19112	0.55	0.27727	N	0.944924	B;B;B;B;P	0.43477	0.117;0.117;0.117;0.117;0.808	B;B;B;B;P	0.46825	0.159;0.159;0.268;0.268;0.528	T	0.43988	-0.9357	9	0.87932	D	0	.	20.0881	0.97803	0.0:1.0:0.0:0.0	.	421;421;421;421;421	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	421;421;421;421;421;421;17	ENSP00000343764:D421N;ENSP00000434586:D421N;ENSP00000340554:D421N;ENSP00000352154:D421N;ENSP00000354117:D421N;ENSP00000405517:D17N	ENSP00000340554:D421N	D	-	1	0	TTN	179367508	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	4.314000	0.59166	2.840000	0.97914	0.655000	0.94253	GAC	TTN	-	pfam_Titin_Z		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179659263	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179659263	C	T	179659263	3	4	152	1	0	0	0	0	1	0	0	0	16766	826	29	1	110147	1	TTN	2	179659263	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	157867	179659263	63540110	72	25646										
STAT4	6775	genome.wustl.edu	37	chr2	191922751	191922751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgccaaacttaccaaatgtCgaaattctactgagagactc	6	11	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:191922751C>T	ENST00000392320.2	-	13	1513	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	STAT4_ENST00000358470.4_Missense_Mutation_p.R400Q	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	400					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TACCAAATGTCGAAATTCTAC	0.363																																																	0													75	75	75					2																	191922751		2203	4300	6503	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1199G>A	2.37:g.191922751C>T	ENSP00000376134:p.Arg400Gln		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R400Q	ENST00000392320.2	37	c.1199	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	30	5.053764	0.93793	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.80304	-1.36;-1.36	5.38	5.38	0.77491	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.84683	2.71	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.50708	0.648;0.648;0.648	D	0.89649	0.3868	10	0.72032	D	0.01	-33.9759	19.5078	0.95127	0.0:1.0:0.0:0.0	.	309;400;400	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	Q	400	ENSP00000351255:R400Q;ENSP00000376134:R400Q	ENSP00000351255:R400Q	R	-	2	0	STAT4	191630996	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.478000	0.66806	2.694000	0.91930	0.585000	0.79938	CGA	STAT4	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.363	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	C	NM_003151		191922751	-1	no_errors	ENST00000358470	ensembl	human	known	70_37	missense	SNP	1.000	T	T	191922751	C	T	191922751	3	4	152	1	0	0	0	0	1	0	0	0	15297	884	31	1	1095	1	STAT4	2	191922751	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	12263488	191922751	51276622	73	25647										
SGOL2	151246	genome.wustl.edu	37	chr2	201437743	201437743	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agttgaaaaagtatgttactGataggaaatctgctgagcaa	10	4	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:201437743G>T	ENST00000357799.4	+	7	2772	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	892					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTATGTTACTGATAGGAAATC	0.294																																																	0													78	81	80					2																	201437743		1795	4032	5827	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2674G>T	2.37:g.201437743G>T	ENSP00000350447:p.Asp892Tyr		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.D892Y	ENST00000357799.4	37	c.2674	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	6.625	0.483698	0.12581	.	.	ENSG00000163535	ENST00000357799	T	0.15256	2.44	4.39	1.39	0.22231	.	0.503070	0.16799	N	0.199070	T	0.28830	0.0715	L	0.57536	1.79	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.66351	0.943;0.943;0.943	T	0.04621	-1.0938	10	0.72032	D	0.01	-9.1629	4.4233	0.11492	0.1869:0.1929:0.6201:0.0	.	892;892;892	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	Y	892	ENSP00000350447:D892Y	ENSP00000350447:D892Y	D	+	1	0	SGOL2	201145988	0.004000	0.15560	0.049000	0.19019	0.070000	0.16714	1.022000	0.30052	0.614000	0.30107	0.585000	0.79938	GAT	SGOL2	-	NULL		0.294	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201437743	1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.062	T	T	201437743	G	T	201437743	3	4	152	1	0	0	0	0	1	0	0	0	14247	1290	45	3	2696	3	SGOL2	2	201437743	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9514992	201437743	41761630	74	25648										
CRYGD	1421	genome.wustl.edu	37	chr2	208988953	208988953	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagtagttgggctgctcataGagcatccagcagccgctgtc	13	11	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:208988953G>C	ENST00000264376.4	-	2	162	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	45	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCTGCTCATAGAGCATCCAGC	0.657																																																	0													12	14	13					2																	208988953		2194	4285	6479	SO:0001819	synonymous_variant	1421				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.135C>G	2.37:g.208988953G>C			Q17RF7|Q53R51|Q99681	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.L45	ENST00000264376.4	37	c.135	CCDS2378.1	2																																																																																			CRYGD	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin		0.657	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGD	HGNC	protein_coding	OTTHUMT00000256476.2	G	NM_006891		208988953	-1	no_errors	ENST00000264376	ensembl	human	known	70_37	silent	SNP	1.000	C	C	208988953	G	C	208988953	2	2	152	1	0	0	0	0	0	0	0	1	3922	929	33	1		1	CRYGD	2	208988953	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7551210	208988953	34210420	75	25649										
PECR	55825	genome.wustl.edu	37	chr2	216930051	216930051	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttgcctgctttgcacatgtaGaaggtacccgtcaggttggt	12	9	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:216930051G>A	ENST00000265322.7	-	3	482	c.408C>T	c.(406-408)ttC>ttT	p.F136F	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	136					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	TGCACATGTAGAAGGTACCCG	0.478																																																	0													136	130	132					2																	216930051		2203	4300	6503	SO:0001819	synonymous_variant	55825			AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.408C>T	2.37:g.216930051G>A			B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_NADP_OxRdtase_F420,prints_Glc/ribitol_DH,prints_DHB_DH	p.F136	ENST00000265322.7	37	c.408	CCDS33375.1	2																																																																																			PECR	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_DHB_DH		0.478	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PECR	HGNC	protein_coding	OTTHUMT00000337277.1	G	NM_018441		216930051	-1	no_errors	ENST00000265322	ensembl	human	known	70_37	silent	SNP	1.000	A	A	216930051	G	A	216930051	2	1	152	1	0	0	0	0	0	0	0	1	11741	933	33	1		1	PECR	2	216930051	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7941098	216930051	26269322	76	25650										
BCS1L	617	genome.wustl.edu	37	chr2	219526522	219526522	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caggaggaagggaagaccgtGatgtacacagctgtgggctc	16	8	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:219526522G>A	ENST00000431802.1	+	4	1200	c.501G>A	c.(499-501)gtG>gtA	p.V167V	ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392110.2_Silent_p.V167V|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000392111.2_Silent_p.V167V|BCS1L_ENST00000359273.3_Silent_p.V167V|BCS1L_ENST00000439945.1_Silent_p.V167V|BCS1L_ENST00000412366.1_Silent_p.V167V|BCS1L_ENST00000392109.1_Silent_p.V167V			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	167					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGACCGTGATGTACACAG	0.527																																																	0													93	83	87					2																	219526522		2203	4300	6503	SO:0001819	synonymous_variant	617			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.501G>A	2.37:g.219526522G>A			B3KTW9|Q7Z2V7	Silent	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.V167	ENST00000431802.1	37	c.501	CCDS2419.1	2																																																																																			BCS1L	-	pfam_BCS1_N		0.527	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	G	NM_004328		219526522	1	no_errors	ENST00000359273	ensembl	human	known	70_37	silent	SNP	1.000	A	A	219526522	G	A	219526522	2	1	152	1	0	0	0	0	0	0	0	1	1390	1277	45	1		1	BCS1L	2	219526522	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2596471	219526522	23672851	77	25651										
BCS1L	617	genome.wustl.edu	37	chr2	219526572	219526572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tccctttggctatccacgccGccggcgaccactgaattctg	9	16	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:219526572G>A	ENST00000431802.1	+	4	1250	c.551G>A	c.(550-552)cGc>cAc	p.R184H	ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392110.2_Missense_Mutation_p.R184H|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.R184H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R184H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R184H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R184H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R184H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	184			R -> C (in MC3DN1 and BJS; with mild mitochondrial complex III deficiency; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III). {ECO:0000269|PubMed:17314340, ECO:0000269|PubMed:17403714}.		mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATCCACGCCGCCGGCGACCA	0.557																																																	0													71	66	68					2																	219526572		2203	4300	6503	SO:0001583	missense	617			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.551G>A	2.37:g.219526572G>A	ENSP00000413908:p.Arg184His		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R184H	ENST00000431802.1	37	c.551	CCDS2419.1	2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883917	0.91814	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.86	4.98	0.66077	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.89785	3.06	0.80722	D	1	P	0.39131	0.661	B	0.32583	0.148	D	0.95066	0.8200	10	0.35671	T	0.21	-19.272	15.1786	0.72934	0.0677:0.0:0.9323:0.0	.	184	Q9Y276	BCS1_HUMAN	H	184;184;64;184;184;184;184;184;184;184	ENSP00000398957:R184H;ENSP00000395440:R184H;ENSP00000412729:R64H;ENSP00000352219:R184H;ENSP00000375957:R184H;ENSP00000375958:R184H;ENSP00000375959:R184H;ENSP00000406494:R184H;ENSP00000404999:R184H;ENSP00000413908:R184H	ENSP00000352219:R184H	R	+	2	0	BCS1L	219234816	1.000000	0.71417	0.901000	0.35422	0.977000	0.68977	7.914000	0.87478	1.483000	0.48342	0.650000	0.86243	CGC	BCS1L	-	pfam_BCS1_N		0.557	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	G	NM_004328		219526572	1	no_errors	ENST00000359273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	219526572	G	A	219526572	3	1	152	1	0	0	0	0	1	0	0	0	1390	1087	38	2	561	2	BCS1L	2	219526572	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	50	219526572	23672801	78	25652										
STK36	27148	genome.wustl.edu	37	chr2	219563736	219563736	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agtctggactgctcagccttCtgctgcttgggcttggagac	13	11	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:219563736C>T	ENST00000295709.3	+	26	3748	c.3469C>T	c.(3469-3471)Ctg>Ttg	p.L1157L	STK36_ENST00000392105.3_Silent_p.L1136L|STK36_ENST00000392106.2_Silent_p.L1136L|STK36_ENST00000440309.1_Silent_p.L1157L	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCTCAGCCTTCTGCTGCTTGG	0.607																																																	0													63	64	64					2																	219563736		2203	4300	6503	SO:0001819	synonymous_variant	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3469C>T	2.37:g.219563736C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1157	ENST00000295709.3	37	c.3469	CCDS2421.1	2																																																																																			STK36	-	superfamily_ARM-type_fold		0.607	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	C			219563736	1	no_errors	ENST00000295709	ensembl	human	known	70_37	silent	SNP	0.986	T	T	219563736	C	T	219563736	2	4	152	1	0	0	0	0	0	0	0	1	15332	912	32	1		1	STK36	2	219563736	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	37164	219563736	23635637	79	25653										
SLC19A3	80704	genome.wustl.edu	37	chr2	228552884	228552884	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agaagtattgcagcttacctGaatgctgactggcaagttga	11	7	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:228552884G>A	ENST00000258403.3	-	5	1383	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.Q434*	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	438					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCTTACCTGAATGCTGACT	0.383																																																	0													141	128	133					2																	228552884		2203	4300	6503	SO:0001587	stop_gained	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1312C>T	2.37:g.228552884G>A	ENSP00000258403:p.Gln438*			Nonsense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.Q438*	ENST00000258403.3	37	c.1312	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.673914	0.97751	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	.	.	.	5.44	5.44	0.79542	.	0.173233	0.44097	D	0.000484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.9469	19.454	0.94880	0.0:0.0:1.0:0.0	.	.	.	.	X	438;434	.	ENSP00000258403:Q438X	Q	-	1	0	SLC19A3	228261128	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.545000	0.90657	2.831000	0.97527	0.650000	0.86243	CAG	SLC19A3	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.383	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	G			228552884	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	228552884	G	A	228552884	4	1	152	1	0	0	0	0	0	1	0	0	14460	1299	45	1	186	1	SLC19A3	2	228552884	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	8989148	228552884	14646489	80	25654										
SCLY	51540	genome.wustl.edu	37	chr2	239005466	239005466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgtggtgcttgcgcagtgccGagtgctgatggccagtgtgg	18	9	0	1	rs150718596		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr2:239005466G>A	ENST00000555827.1	+	11	1197	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	SCLY_ENST00000422984.2_Missense_Mutation_p.R284Q|SCLY_ENST00000429612.2_Missense_Mutation_p.R172Q|SCLY_ENST00000254663.6_Missense_Mutation_p.R386Q			Q96I15	SCLY_HUMAN	selenocysteine lyase	378					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCGCAGTGCCGAGTGCTGATG	0.662																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												0									GLN/ARG	0,4402		0,0,2201	37	34	35		1157	0.8	0.1	2	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	no	missense	SCLY	NM_016510.5	43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	386/454	239005466	1,12999	2201	4299	6500	SO:0001583	missense	51540			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1133G>A	2.37:g.239005466G>A	ENSP00000450613:p.Arg378Gln		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	p.R386Q	ENST00000555827.1	37	c.1157		2	.	.	.	.	.	.	.	.	.	.	g	4.747	0.138939	0.09083	0.0	1.16E-4	ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000422984;ENST00000429612;ENST00000450965	D;D;D;T;D	0.86956	-2.19;-2.19;-2.19;0.98;-2.19	4.7	0.797	0.18654	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.437153	0.23224	N	0.050532	T	0.73713	0.3622	N	0.17872	0.535	0.22903	N	0.998581	B;B;B	0.20052	0.019;0.009;0.041	B;B;B	0.13407	0.009;0.001;0.005	T	0.60115	-0.7326	10	0.36615	T	0.2	-38.6402	6.9664	0.24625	0.4765:0.0:0.5235:0.0	.	284;172;378	E7ESG3;E7ESH3;Q96I15	.;.;SCLY_HUMAN	Q	386;378;284;172;208	ENSP00000254663:R386Q;ENSP00000450613:R378Q;ENSP00000416865:R284Q;ENSP00000393694:R172Q;ENSP00000414053:R208Q	ENSP00000254663:R378Q	R	+	2	0	SCLY	238670205	1.000000	0.71417	0.059000	0.19551	0.005000	0.04900	1.343000	0.33930	0.076000	0.16826	0.558000	0.71614	CGA	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS		0.662	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		G	NM_016510		239005466	1	no_errors	ENST00000254663	ensembl	human	known	70_37	missense	SNP	0.400	A	A	239005466	G	A	239005466	3	1	152	1	0	0	0	0	1	0	0	0	13937	1058	37	1	1175	1	SCLY	2	239005466	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	10452582	239005466	4193907	81	25655										
GOLGA4	2803	genome.wustl.edu	37	chr3	37360673	37360673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agggaatttcaggaacaaatGaaagtagctcttgtaagtga	11	4	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:37360673G>A	ENST00000361924.2	+	12	1907	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.M533I|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	511	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGAACAAATGAAAGTAGCTC	0.398																																																	0													82	88	86					3																	37360673		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1533G>A	3.37:g.37360673G>A	ENSP00000354486:p.Met511Ile		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.M511I	ENST00000361924.2	37	c.1533	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498789	0.64298	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25085	1.83;1.82;1.85	6.02	5.15	0.70609	.	0.159857	0.29853	N	0.011021	T	0.30510	0.0767	L	0.59436	1.845	0.43355	D	0.995423	P;P;P	0.46512	0.794;0.794;0.879	B;B;B	0.43052	0.406;0.406;0.253	T	0.04165	-1.0972	10	0.34782	T	0.22	.	15.465	0.75394	0.0663:0.0:0.9337:0.0	.	511;533;511	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	I	511;533;382	ENSP00000354486:M511I;ENSP00000349305:M533I;ENSP00000405842:M382I	ENSP00000349305:M533I	M	+	3	0	GOLGA4	37335677	1.000000	0.71417	0.994000	0.49952	0.840000	0.47671	3.417000	0.52714	1.563000	0.49615	-0.150000	0.13652	ATG	GOLGA4	-	NULL		0.398	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37360673	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37360673	G	A	37360673	3	1	152	1	0	0	0	0	1	0	0	0	6574	1290	45	1	1649	1	GOLGA4	3	37360673	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		37360673	160661757	82	25656										
SCN11A	11280	genome.wustl.edu	37	chr3	38888598	38888598	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctttgcgacacgcaaaggctCaggcaaggcatcagcaaagt	11	11	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:38888598C>T	ENST00000302328.3	-	26	5161	c.4963G>A	c.(4963-4965)Gag>Aag	p.E1655K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E1655K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E1617K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1655					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCAAAGGCTCAGGCAAGGCA	0.413																																																	0													93	97	95					3																	38888598		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4963G>A	3.37:g.38888598C>T	ENSP00000307599:p.Glu1655Lys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.E1655K	ENST00000302328.3	37	c.4963	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876429	0.51801	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96011	-3.88;-3.88;-3.84	5.46	4.58	0.56647	.	0.104765	0.64402	N	0.000005	D	0.93478	0.7919	M	0.72118	2.19	0.34631	D	0.719653	B	0.27498	0.18	B	0.23150	0.044	D	0.94094	0.7356	10	0.62326	D	0.03	.	9.7221	0.40308	0.0:0.7856:0.1406:0.0738	.	1655	Q9UI33	SCNBA_HUMAN	K	1655;1655;1617	ENSP00000307599:E1655K;ENSP00000400945:E1655K;ENSP00000416757:E1617K	ENSP00000307599:E1655K	E	-	1	0	SCN11A	38863602	0.000000	0.05858	0.894000	0.35097	0.851000	0.48451	0.828000	0.27435	1.295000	0.44724	0.650000	0.86243	GAG	SCN11A	-	NULL		0.413	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38888598	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.880	T	T	38888598	C	T	38888598	3	4	152	1	0	0	0	0	1	0	0	0	13943	835	29	1	416	1	SCN11A	3	38888598	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1527925	38888598	159133832	83	25657										
TMEM42	131616	genome.wustl.edu	37	chr3	44905835	44905835	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttttcaaatatcctcagctcGgtgagtagcctgagggtgtg	12	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:44905835G>A	ENST00000302392.4	+	2	395	c.339G>A	c.(337-339)tcG>tcA	p.S113S	MIR564_ENST00000385049.1_RNA	NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	113						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		TCCTCAGCTCGGTGAGTAGCC	0.498																																																	0													124	112	116					3																	44905835		2203	4300	6503	SO:0001630	splice_region_variant	131616			AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.339+1G>A	3.37:g.44905835G>A			Q8WUQ6	Silent	SNP	NULL	p.S113	ENST00000302392.4	37	c.339	CCDS2722.1	3																																																																																			TMEM42	-	NULL		0.498	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM42	HGNC	protein_coding	OTTHUMT00000256750.2	G	NM_144638	Silent	44905835	1	no_errors	ENST00000302392	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44905835	G	A	44905835	5	1	152	1	0	0	0	0	0	0	1	0	16196	1130	39	2	345	2	TMEM42	3	44905835	Splice_Site	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6017237	44905835	153116595	84	25658										
RBM6	10180	genome.wustl.edu	37	chr3	50095409	50095409	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agagggagtcatggtctggaGagacacgccaggatggagag	18	6	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:50095409G>A	ENST00000266022.4	+	9	2201	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.E126K|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.E516K|RBM6_ENST00000442092.1_Missense_Mutation_p.E126K	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	648					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATGGTCTGGAGAGACACGCCA	0.493																																																	0													74	76	75					3																	50095409		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1942G>A	3.37:g.50095409G>A	ENSP00000266022:p.Glu648Lys		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.E648K	ENST00000266022.4	37	c.1942	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293190	0.60086	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000422955;ENST00000446471	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.71	5.71	0.89125	.	0.579013	0.18096	N	0.151837	T	0.21631	0.0521	N	0.14661	0.345	0.80722	D	1	B;B	0.23377	0.002;0.084	B;B	0.15870	0.004;0.014	T	0.09164	-1.0687	9	.	.	.	-1.5107	12.4127	0.55476	0.0767:0.0:0.9233:0.0	.	516;648	E9PGM9;P78332	.;RBM6_HUMAN	K	126;648;516;126;126	ENSP00000393530:E126K;ENSP00000266022:E648K;ENSP00000396466:E516K;ENSP00000392939:E126K	.	E	+	1	0	RBM6	50070413	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.470000	0.60175	2.711000	0.92665	0.650000	0.86243	GAG	RBM6	-	NULL		0.493	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50095409	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50095409	G	A	50095409	3	1	152	1	0	0	0	0	1	0	0	0	13174	943	33	1	1972	1	RBM6	3	50095409	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5189574	50095409	147927021	85	25659										
RBM5	10181	genome.wustl.edu	37	chr3	50138005	50138005	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttcgtggagttttatcacttGcaagatgctaccagctggat	10	8	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:50138005G>C	ENST00000347869.3	+	6	625	c.450G>C	c.(448-450)ttG>ttC	p.L150F	RBM5_ENST00000469838.1_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	150	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTATCACTTGCAAGATGCTA	0.413																																																	0													151	126	134					3																	50138005		2203	4300	6503	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.450G>C	3.37:g.50138005G>C	ENSP00000343054:p.Leu150Phe		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.L150F	ENST00000347869.3	37	c.450	CCDS2810.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.92|13.92	2.379516|2.379516	0.42207|0.42207	.|.	.|.	ENSG00000003756|ENSG00000003756	ENST00000404526;ENST00000536082|ENST00000347869;ENST00000543047	.|T	.|0.08458	.|3.09	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.069445	.|0.64402	.|D	.|0.000011	T|T	0.15739|0.15739	0.0379|0.0379	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.17098	.|0.017	T|T	0.00975|0.00975	-1.1494|-1.1494	6|10	0.87932|0.41790	D|T	0|0.15	-7.1693|-7.1693	15.1859|15.1859	0.73002|0.73002	0.0:0.0:0.8266:0.1734|0.0:0.0:0.8266:0.1734	.|.	.|150	.|P52756	.|RBM5_HUMAN	P|F	120;102|150;149	.|ENSP00000343054:L150F	ENSP00000384872:A120P|ENSP00000343054:L150F	A|L	+|+	1|3	0|2	RBM5|RBM5	50113009|50113009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.412000|6.412000	0.73303|0.73303	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCA|TTG	RBM5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.413	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50138005	1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50138005	G	C	50138005	3	2	152	1	0	0	0	0	1	0	0	0	13173	1310	46	4	468	4	RBM5	3	50138005	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	42596	50138005	147884425	86	25660										
C3orf63	23272	genome.wustl.edu	37	chr3	56667929	56667929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctctgtctatttattacccGggggtcgttaggaaaggcct	11	9	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:56667929G>A	ENST00000493960.2	-	18	2900	c.2890C>T	c.(2890-2892)Cgg>Tgg	p.R964W	FAM208A_ENST00000431842.2_Intron|FAM208A_ENST00000355628.5_Intron	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	964							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTATTACCCGGGGGTCGTTA	0.448																																																	0													10	9	9					3																	56667929		690	1591	2281	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2890C>T	3.37:g.56667929G>A	ENSP00000417509:p.Arg964Trp		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.R964W	ENST00000493960.2	37	c.2890	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636866	0.67130	.	.	ENSG00000163946	ENST00000493960	T	0.13778	2.56	5.62	5.62	0.85841	.	.	.	.	.	T	0.31231	0.0790	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00426	-1.1746	9	0.72032	D	0.01	.	14.8175	0.70045	0.0:0.0:0.856:0.144	.	964;964	Q9UK61-3;Q9UK61	.;F208A_HUMAN	W	964	ENSP00000417509:R964W	ENSP00000417509:R964W	R	-	1	2	C3orf63	56642969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.027000	0.49697	2.801000	0.96364	0.650000	0.86243	CGG	FAM208A	-	NULL		0.448	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	G	NM_015224		56667929	-1	no_errors	ENST00000493960	ensembl	human	putative	70_37	missense	SNP	1.000	A	A	56667929	G	A	56667929	3	1	152	1	0	0	0	0	1	0	0	0	2244	1115	39	2	2210	2	C3orf63	3	56667929	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6529924	56667929	141354501	87	25661										
PSMD6	9861	genome.wustl.edu	37	chr3	64009002	64009002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcgcacggcagcgtctccgcGgtgctcgggcaggctgagca	17	14	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:64009002G>A	ENST00000295901.4	-	1	234	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PSMD6_ENST00000394431.2_Intron|PSMD6_ENST00000492933.1_Missense_Mutation_p.R32C|PSMD6_ENST00000482510.1_Intron	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCGTCTCCGCGGTGCTCGGGC	0.711																																																	0													15	16	16					3																	64009002		2196	4289	6485	SO:0001583	missense	9861			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.94C>T	3.37:g.64009002G>A	ENSP00000295901:p.Arg32Cys		A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.R32C	ENST00000295901.4	37	c.94	CCDS2901.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.058926	0.93846	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000478185	.	.	.	5.19	5.19	0.71726	.	0.105732	0.64402	D	0.000004	T	0.58921	0.2156	L	0.36672	1.1	0.80722	D	1	P;D	0.53312	0.834;0.959	B;P	0.49361	0.416;0.608	T	0.61402	-0.7070	9	0.52906	T	0.07	.	18.6966	0.91603	0.0:0.0:1.0:0.0	.	32;32	C9IZE4;Q15008	.;PSMD6_HUMAN	C	32	.	ENSP00000295901:R32C	R	-	1	0	PSMD6	63984042	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.880000	0.75578	2.586000	0.87340	0.467000	0.42956	CGC	PSMD6	-	NULL		0.711	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1	G	NM_014814		64009002	-1	no_errors	ENST00000295901	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64009002	G	A	64009002	3	1	152	1	0	0	0	0	1	0	0	0	12729	1116	39	2	1107	2	PSMD6	3	64009002	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7341073	64009002	134013428	88	25662										
PDZRN3	23024	genome.wustl.edu	37	chr3	73450114	73450114	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtccatctcctgatggatgtCtccaatgtagtcatttggat	9	9	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:73450114C>T	ENST00000263666.4	-	5	1327	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D62N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D127N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D122N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D62N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	405					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGATGGATGTCTCCAATGTAG	0.438																																																	0													182	177	179					3																	73450114		2203	4300	6503	SO:0001583	missense	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1213G>A	3.37:g.73450114C>T	ENSP00000263666:p.Asp405Asn		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.D405N	ENST00000263666.4	37	c.1213	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551958	0.45487	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.09911	2.93;3.68;3.59;3.59;3.64;3.64	5.12	3.05	0.35203	.	0.623108	0.17669	N	0.166051	T	0.04907	0.0132	N	0.03608	-0.345	0.27280	N	0.958118	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.12156	0.005;0.007;0.002;0.005	T	0.34527	-0.9825	10	0.30854	T	0.27	.	10.4966	0.44780	0.0:0.7833:0.0:0.2167	.	127;122;122;405	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	N	405;127;62;62;122;405;103	ENSP00000263666:D405N;ENSP00000442026:D127N;ENSP00000418168:D62N;ENSP00000418484:D62N;ENSP00000418624:D122N;ENSP00000419250:D103N	ENSP00000263666:D405N	D	-	1	0	PDZRN3	73532804	1.000000	0.71417	0.644000	0.29465	0.994000	0.84299	2.467000	0.45093	1.163000	0.42636	0.555000	0.69702	GAC	PDZRN3	-	NULL		0.438	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	C	XM_041363		73450114	-1	no_errors	ENST00000263666	ensembl	human	known	70_37	missense	SNP	0.998	T	T	73450114	C	T	73450114	3	4	152	1	0	0	0	0	1	0	0	0	11733	913	32	1	2011	1	PDZRN3	3	73450114	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9441112	73450114	124572316	89	25663										
MYH15	22989	genome.wustl.edu	37	chr3	108224626	108224626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atcttcactcccttttacctCagcctcgatataagcattct	3	14	4	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:108224626C>T	ENST00000273353.3	-	3	255	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	67						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTTTTACCTCAGCCTCGATA	0.358																																																	0													207	192	196					3																	108224626		1872	4132	6004	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.199G>A	3.37:g.108224626C>T	ENSP00000273353:p.Glu67Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E67K	ENST00000273353.3	37	c.199	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	5.963	0.361716	0.11296	.	.	ENSG00000144821	ENST00000273353	D	0.83250	-1.7	3.41	1.57	0.23409	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.85440	0.5697	L	0.60455	1.87	0.34508	D	0.706795	P	0.51933	0.949	D	0.62955	0.909	D	0.83854	0.0264	9	0.26408	T	0.33	.	8.4374	0.32795	0.0:0.7533:0.1563:0.0904	.	67	Q9Y2K3	MYH15_HUMAN	K	67	ENSP00000273353:E67K	ENSP00000273353:E67K	E	-	1	0	MYH15	109707316	0.022000	0.18835	0.466000	0.27168	0.071000	0.16799	0.806000	0.27126	0.430000	0.26230	0.561000	0.74099	GAG	MYH15	-	pfam_Myosin_N		0.358	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108224626	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.679	T	T	108224626	C	T	108224626	3	4	152	1	0	0	0	0	1	0	0	0	10057	835	29	1	5801	1	MYH15	3	108224626	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	34774512	108224626	89797804	90	25664										
ADCY5	111	genome.wustl.edu	37	chr3	123010071	123010071	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttggcgatggaggcgaacatGaccgccacacactcacagga	12	12	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:123010071G>A	ENST00000462833.1	-	18	4428	c.3216C>T	c.(3214-3216)gtC>gtT	p.V1072V	ADCY5_ENST00000309879.5_Silent_p.V722V|ADCY5_ENST00000491190.1_Silent_p.V730V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1072	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGGCGAACATGACCGCCACAC	0.587																																																	0													102	81	89					3																	123010071		2203	4300	6503	SO:0001819	synonymous_variant	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3216C>T	3.37:g.123010071G>A			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1072	ENST00000462833.1	37	c.3216	CCDS3022.1	3																																																																																			ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123010071	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	silent	SNP	1.000	A	A	123010071	G	A	123010071	2	1	152	1	0	0	0	0	0	0	0	1	297	1277	45	1		1	ADCY5	3	123010071	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	14785445	123010071	75012359	91	25665										
TOPBP1	11073	genome.wustl.edu	37	chr3	133327481	133327481	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcatctggtttcagtttattCaagtcagaaaaaagatgtgt	8	5	5	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:133327481C>A	ENST00000260810.5	-	27	4454	c.4323G>T	c.(4321-4323)ttG>ttT	p.L1441F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1441	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCAGTTTATTCAAGTCAGAAA	0.388								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													97	88	91					3																	133327481		1825	4100	5925	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4323G>T	3.37:g.133327481C>A	ENSP00000260810:p.Leu1441Phe		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.L1441F	ENST00000260810.5	37	c.4323	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	3.519	-0.098210	0.07010	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.43	-10.9	0.00192	.	0.274589	0.47852	N	0.000205	T	0.01156	0.0038	N	0.00275	-1.725	0.22873	N	0.998627	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	10	0.02654	T	1	.	5.7254	0.18010	0.1646:0.1725:0.4983:0.1646	.	1441	Q92547	TOPB1_HUMAN	F	1441	ENSP00000260810:L1441F	ENSP00000260810:L1441F	L	-	3	2	TOPBP1	134810171	0.845000	0.29573	0.224000	0.23877	0.970000	0.65996	-0.031000	0.12287	-2.409000	0.00572	-0.976000	0.02587	TTG	TOPBP1	-	superfamily_BRCT_dom		0.388	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	C	NM_007027		133327481	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	0.732	A	A	133327481	C	A	133327481	3	1	152	1	0	0	0	0	1	0	0	0	16400	825	29	3	253	3	TOPBP1	3	133327481	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	10317410	133327481	64694949	92	25666										
TOPBP1	11073	genome.wustl.edu	37	chr3	133347213	133347213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgtgccaactacctgtaatCtgctcctagagaggctgcga	10	11	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:133347213C>T	ENST00000260810.5	-	16	2928	c.2797G>A	c.(2797-2799)Gat>Aat	p.D933N		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	933	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TACCTGTAATCTGCTCCTAGA	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													97	93	95					3																	133347213		1886	4116	6002	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2797G>A	3.37:g.133347213C>T	ENSP00000260810:p.Asp933Asn		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.D933N	ENST00000260810.5	37	c.2797	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.422583	0.96111	.	.	ENSG00000163781	ENST00000260810	T	0.79352	-1.26	5.62	5.62	0.85841	BRCT (4);	0.317751	0.41712	D	0.000832	D	0.84795	0.5551	M	0.61703	1.905	0.50039	D	0.999842	D	0.58620	0.983	P	0.57679	0.825	D	0.83499	0.0074	10	0.42905	T	0.14	.	19.6406	0.95755	0.0:1.0:0.0:0.0	.	933	Q92547	TOPB1_HUMAN	N	933	ENSP00000260810:D933N	ENSP00000260810:D933N	D	-	1	0	TOPBP1	134829903	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.210000	0.77924	2.794000	0.96219	0.650000	0.86243	GAT	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	C	NM_007027		133347213	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133347213	C	T	133347213	3	4	152	1	0	0	0	0	1	0	0	0	16400	913	32	1	1823	1	TOPBP1	3	133347213	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	19732	133347213	64675217	93	25667										
AMOTL2	51421	genome.wustl.edu	37	chr3	134080426	134080426	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agctccagctgctcccgcttCtcacaggctgcctgcagctg	10	17	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:134080426C>T	ENST00000422605.2	-	6	1669	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	AMOTL2_ENST00000513145.1_Silent_p.E501E|AMOTL2_ENST00000514516.1_Silent_p.E559E|AMOTL2_ENST00000249883.5_Silent_p.E501E			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	501					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCCCGCTTCTCACAGGCTG	0.652																																																	0													21	24	23					3																	134080426		2198	4279	6477	SO:0001819	synonymous_variant	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1503G>A	3.37:g.134080426C>T			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E501	ENST00000422605.2	37	c.1503		3																																																																																			AMOTL2	-	pfam_Angiomotin_C,prints_Angiomotin		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	C	NM_016201		134080426	-1	no_errors	ENST00000249883	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134080426	C	T	134080426	2	4	152	1	0	0	0	0	0	0	0	1	584	912	32	1		1	AMOTL2	3	134080426	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	733213	134080426	63942004	94	25668										
KCNAB1	7881	genome.wustl.edu	37	chr3	155861124	155861124	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgaggcccagtggagcagccGaacagaaatatgtggaaaag	14	7	0	2	rs370874801		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:155861124G>A	ENST00000490337.1	+	1	339				KCNAB1_ENST00000471742.1_Missense_Mutation_p.E53K|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGAGCAGCCGAACAGAAATA	0.502																																																	0								G	LYS/GLU,	0,4406		0,0,2203	70	67	68		157,	5.2	0.1	3		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	KCNAB1	NM_003471.3,NM_172160.2	56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	53/409,	155861124	1,13005	2203	4300	6503	SO:0001627	intron_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22449G>A	3.37:g.155861124G>A			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.E53K	ENST00000490337.1	37	c.157	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830602	0.50845	0.0	1.16E-4	ENSG00000169282	ENST00000471742	T	0.06768	3.26	5.17	5.17	0.71159	.	.	.	.	.	T	0.04952	0.0133	.	.	.	0.80722	D	1	B	0.23249	0.082	B	0.12156	0.007	T	0.21415	-1.0246	8	0.06099	T	0.92	.	16.5305	0.84357	0.0:0.0:1.0:0.0	.	53	Q14722-3	.	K	53	ENSP00000418956:E53K	ENSP00000418956:E53K	E	+	1	0	KCNAB1	157343818	1.000000	0.71417	0.057000	0.19452	0.952000	0.60782	6.386000	0.73186	2.562000	0.86427	0.561000	0.74099	GAA	KCNAB1	-	NULL		0.502	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	G	NM_003471		155861124	1	no_errors	ENST00000471742	ensembl	human	known	70_37	missense	SNP	0.585	A	A	155861124	G	A	155861124	1	1	152	0	1	0	0	0	0	0	0	0	8029	1059	37	1		1	KCNAB1	3	155861124	Intron	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	21780698	155861124	42161306	95	25669										
CCNL1	57018	genome.wustl.edu	37	chr3	156870923	156870923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtgttaatgtagttctgatCaaggatcagggggcttggag	16	4	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:156870923C>T	ENST00000295926.3	-	4	629	c.511G>A	c.(511-513)Gat>Aat	p.D171N	CCNL1_ENST00000479052.1_5'UTR|Y_RNA_ENST00000364908.1_RNA|CCNL1_ENST00000461804.1_Missense_Mutation_p.D171N	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	171	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TAGTTCTGATCAAGGATCAGG	0.373																																																	0													96	87	90					3																	156870923		2203	4300	6503	SO:0001583	missense	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.511G>A	3.37:g.156870923C>T	ENSP00000295926:p.Asp171Asn		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.D171N	ENST00000295926.3	37	c.511	CCDS3178.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.418550	0.96092	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	T;T	0.46451	0.87;0.87	5.9	5.9	0.94986	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.982;0.999;0.998	T	0.72250	-0.4348	10	0.66056	D	0.02	-25.6637	20.2704	0.98474	0.0:1.0:0.0:0.0	.	171;171;171	Q9UK58-4;Q9UK58;C9JPL0	.;CCNL1_HUMAN;.	N	171	ENSP00000420277:D171N;ENSP00000295926:D171N	ENSP00000295926:D171N	D	-	1	0	CCNL1	158353617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.793000	0.96121	0.591000	0.81541	GAT	CCNL1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L		0.373	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	C	NM_020307		156870923	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	missense	SNP	1.000	T	T	156870923	C	T	156870923	3	4	152	1	0	0	0	0	1	0	0	0	2936	826	29	1	1101	1	CCNL1	3	156870923	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1009799	156870923	41151507	96	25670										
RSRC1	51319	genome.wustl.edu	37	chr3	157920935	157920935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcacagaagaacgcgtagtcGgtctcgggatagagaacgac	13	9	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:157920935G>A	ENST00000295930.3	+	4	557	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	RSRC1_ENST00000480820.1_Missense_Mutation_p.R132Q|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.R132Q|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	132	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACGCGTAGTCGGTCTCGGGAT	0.448																																																	0													116	118	117					3																	157920935		2203	4300	6503	SO:0001583	missense	51319			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 21"	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.395G>A	3.37:g.157920935G>A	ENSP00000295930:p.Arg132Gln		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	NULL	p.R132Q	ENST00000295930.3	37	c.395	CCDS3181.1	3	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282478	0.40394	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899	.	.	.	5.04	4.1	0.47936	.	0.164390	0.48767	D	0.000164	T	0.24160	0.0585	L	0.52573	1.65	0.09310	N	1	P	0.38370	0.628	B	0.25405	0.06	T	0.35276	-0.9795	9	0.59425	D	0.04	.	6.1695	0.20408	0.1618:0.1625:0.6757:0.0	.	132	Q96IZ7	RSRC1_HUMAN	Q	132	.	ENSP00000295930:R132Q	R	+	2	0	RSRC1	159403629	0.864000	0.29904	0.817000	0.32601	0.989000	0.77384	3.063000	0.49978	2.502000	0.84385	0.591000	0.81541	CGG	RSRC1	-	NULL		0.448	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC1	HGNC	protein_coding	OTTHUMT00000352063.2	G	NM_016625		157920935	1	no_errors	ENST00000295930	ensembl	human	known	70_37	missense	SNP	0.031	A	A	157920935	G	A	157920935	3	1	152	1	0	0	0	0	1	0	0	0	13744	1116	39	2	405	2	RSRC1	3	157920935	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1050012	157920935	40101495	97	25671										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	152	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	21015156	178936091	19086339	98	25672										
ECE2	9718	genome.wustl.edu	37	chr3	183995182	183995182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttcggaggaaccccctgcccGatgggcgttctcgctggaac	13	14	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:183995182G>A	ENST00000402825.3	+	4	760	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ECE2_ENST00000404464.3_Missense_Mutation_p.D136N|ECE2_ENST00000357474.5_Missense_Mutation_p.D182N|ECE2_ENST00000359140.4_Missense_Mutation_p.D107N|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	254	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCTGCCCGATGGGCGTTC	0.602																																																	0													51	52	52					3																	183995182		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.760G>A	3.37:g.183995182G>A	ENSP00000384223:p.Asp254Asn		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.D254N	ENST00000402825.3	37	c.760	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422726	0.43020	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.97	4.18	0.49190	Peptidase M13 (1);	0.247438	0.45867	N	0.000338	T	0.65123	0.2661	L	0.42632	1.34	0.48571	D	0.999672	B;B;B;B;B;B	0.13145	0.007;0.006;0.0;0.002;0.001;0.006	B;B;B;B;B;B	0.15870	0.004;0.014;0.0;0.002;0.001;0.004	T	0.59830	-0.7380	10	0.46703	T	0.11	-15.2473	9.5488	0.39297	0.231:0.0:0.769:0.0	.	107;182;136;182;107;254	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	N	254;107;136;182;128	ENSP00000384223:D254N;ENSP00000352052:D107N;ENSP00000385846:D136N;ENSP00000350066:D182N;ENSP00000398444:D128N	ENSP00000350066:D182N	D	+	1	0	ECE2	185477876	1.000000	0.71417	0.478000	0.27316	0.453000	0.32348	4.897000	0.63231	0.858000	0.35431	-0.123000	0.14984	GAT	ECE2	-	pfam_Peptidase_M13_N		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		183995182	1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	0.987	A	A	183995182	G	A	183995182	3	1	152	1	0	0	0	0	1	0	0	0	4900	1058	37	1	1338	1	ECE2	3	183995182	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5059091	183995182	14027248	99	25673										
C3orf59	151963	genome.wustl.edu	37	chr3	192517146	192517146	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtggcaccattgatgtgatCtacaatggtgcagcagtctt	12	8	2	2	rs368937752		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:192517146C>G	ENST00000392452.2	-	2	825	c.505G>C	c.(505-507)Gat>Cat	p.D169H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	169							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGATGTGATCTACAATGGTG	0.473																																																	0													89	89	89					3																	192517146		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.505G>C	3.37:g.192517146C>G	ENSP00000376246:p.Asp169His		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.D169H	ENST00000392452.2	37	c.505	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900650	0.72754	.	.	ENSG00000180611	ENST00000392452	T	0.50813	0.73	5.63	5.63	0.86233	.	0.046649	0.85682	D	0.000000	T	0.60715	0.2290	L	0.44542	1.39	0.80722	D	1	D	0.56746	0.977	P	0.61477	0.889	T	0.60596	-0.7232	10	0.59425	D	0.04	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	169	Q8IYB1	M21D2_HUMAN	H	169	ENSP00000376246:D169H	ENSP00000376246:D169H	D	-	1	0	MB21D2	193999840	1.000000	0.71417	0.867000	0.34043	0.962000	0.63368	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GAT	MB21D2	-	NULL		0.473	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	C	NM_178496		192517146	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	G	G	192517146	C	G	192517146	3	3	152	1	0	0	0	0	1	0	0	0	2242	913	32	1	974	1	C3orf59	3	192517146	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8521964	192517146	5505284	100	25674										
HES1	3280	genome.wustl.edu	37	chr3	193855740	193855740	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttcgcgccgccgccgccactCgtgcccatccccgggggcgc	13	21	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:193855740C>T	ENST00000232424.3	+	4	797	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CGCCGCCACTCGTGCCCATcc	0.801																																																	0													2	3	3					3																	193855740		1266	2855	4121	SO:0001819	synonymous_variant	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.561C>T	3.37:g.193855740C>T			A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.L187	ENST00000232424.3	37	c.561	CCDS3305.1	3																																																																																			HES1	-	NULL		0.801	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	C			193855740	1	no_errors	ENST00000232424	ensembl	human	known	70_37	silent	SNP	0.966	T	T	193855740	C	T	193855740	2	4	152	1	0	0	0	0	0	0	0	1	7085	871	31	1		1	HES1	3	193855740	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1338594	193855740	4166690	101	25675										
SENP5	205564	genome.wustl.edu	37	chr3	196613394	196613394	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agatggaggaggatggatctCtcaagcagagcattcttagt	13	6	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:196613394C>T	ENST00000323460.5	+	2	1591	c.1342C>T	c.(1342-1344)Ctc>Ttc	p.L448F	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.L448F	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	448					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GGATGGATCTCTCAAGCAGAG	0.478																																					Ovarian(47;891 1095 11174 13858 51271)												0													106	99	102					3																	196613394		2203	4300	6503	SO:0001583	missense	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1342C>T	3.37:g.196613394C>T	ENSP00000327197:p.Leu448Phe		B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L448F	ENST00000323460.5	37	c.1342	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558754	0.27827	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.37058	1.22;1.22	5.4	2.56	0.30785	.	0.429779	0.19646	N	0.109322	T	0.21186	0.0510	L	0.29908	0.895	0.30017	N	0.814663	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.13202	-1.0518	10	0.45353	T	0.12	0.0068	2.1514	0.03801	0.1574:0.5126:0.153:0.177	.	448;448	B4DY82;Q96HI0	.;SENP5_HUMAN	F	448	ENSP00000327197:L448F;ENSP00000390231:L448F	ENSP00000327197:L448F	L	+	1	0	SENP5	198097791	0.003000	0.15002	0.939000	0.37840	0.999000	0.98932	-0.033000	0.12246	0.310000	0.22990	0.655000	0.94253	CTC	SENP5	-	NULL		0.478	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	C	NM_152699		196613394	1	no_errors	ENST00000323460	ensembl	human	known	70_37	missense	SNP	0.486	T	T	196613394	C	T	196613394	3	4	152	1	0	0	0	0	1	0	0	0	14079	913	32	1	1344	1	SENP5	3	196613394	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2757654	196613394	1409036	102	25676										
MFI2	4241	genome.wustl.edu	37	chr3	196753546	196753546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttaccttgatcgtacacttCgcccaccaccggcttcaggc	7	17	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr3:196753546C>T	ENST00000296350.5	-	3	402	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	MFI2_ENST00000296351.4_Missense_Mutation_p.E97K	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	97	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TCGTACACTTCGCCCACCACC	0.622																																																	0													100	82	88					3																	196753546		2203	4300	6503	SO:0001583	missense	4241				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.289G>A	3.37:g.196753546C>T	ENSP00000296350:p.Glu97Lys		Q9BQE2	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E97K	ENST00000296350.5	37	c.289	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661370	0.88154	.	.	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.51071	1.8;0.72;0.72	5.02	5.02	0.67125	.	0.048269	0.85682	D	0.000000	T	0.78904	0.4357	H	0.96833	3.89	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;P	0.66979	0.914;0.948;0.873	D	0.86897	0.2052	10	0.87932	D	0	-15.8492	17.3936	0.87439	0.0:1.0:0.0:0.0	.	97;97;97	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	K	97	ENSP00000296350:E97K;ENSP00000296351:E97K;ENSP00000393439:E97K	ENSP00000296350:E97K	E	-	1	0	MFI2	198237943	1.000000	0.71417	0.815000	0.32552	0.726000	0.41606	6.914000	0.75764	2.329000	0.79093	0.555000	0.69702	GAA	MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	C			196753546	-1	no_errors	ENST00000296350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	196753546	C	T	196753546	3	4	152	1	0	0	0	0	1	0	0	0	9545	893	31	1	2184	1	MFI2	3	196753546	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	140152	196753546	1268884	103	25677										
PCGF3	10336	genome.wustl.edu	37	chr4	728784	728784	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgccccacctgcaggattgtGatccaccagagccaccccct	8	18	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:728784G>A	ENST00000362003.5	+	5	569	c.174G>A	c.(172-174)gtG>gtA	p.V58V	PCGF3_ENST00000470161.2_Silent_p.V58V|PCGF3_ENST00000521023.2_Silent_p.V24V|PCGF3_ENST00000505655.2_Silent_p.V58V	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GCAGGATTGTGATCCACCAGA	0.607																																																	0													50	58	56					4																	728784		2022	4176	6198	SO:0001819	synonymous_variant	10336			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.174G>A	4.37:g.728784G>A			D3DVN1|O15262	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V58	ENST00000362003.5	37	c.174	CCDS3339.2	4																																																																																			PCGF3	-	NULL		0.607	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	G	NM_006315		728784	1	no_errors	ENST00000362003	ensembl	human	known	70_37	silent	SNP	0.989	A	A	728784	G	A	728784	2	1	152	1	0	0	0	0	0	0	0	1	11600	1277	45	1		1	PCGF3	4	728784	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		728784	190425492	104	25678										
CTBP1	1487	genome.wustl.edu	37	chr4	1219224	1219224	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcgcggatctgctcgacgctCtggactcgtgtgccctcccg	12	16	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:1219224C>T	ENST00000290921.6	-	4	652	c.471G>A	c.(469-471)caG>caA	p.Q157Q	CTBP1_ENST00000382952.3_Silent_p.Q146Q	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	157					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCTCGACGCTCTGGACTCGTG	0.701																																																	0													29	21	24					4																	1219224		2168	4235	6403	SO:0001819	synonymous_variant	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.471G>A	4.37:g.1219224C>T			Q4W5N3|Q7Z2Q5	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.Q157	ENST00000290921.6	37	c.471	CCDS3348.1	4																																																																																			CTBP1	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.701	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	HGNC	protein_coding	OTTHUMT00000202938.1	C	NM_001328		1219224	-1	no_errors	ENST00000290921	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1219224	C	T	1219224	2	4	152	1	0	0	0	0	0	0	0	1	4002	912	32	1		1	CTBP1	4	1219224	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	490440	1219224	189935052	105	25679										
WHSC2	7469	genome.wustl.edu	37	chr4	1987870	1987870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tccttctccgcttcgcctctCggccagcgccaaccatatcc	6	20	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:1987870C>T	ENST00000411638.2	-	6	821	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	NELFA_ENST00000382882.3_Missense_Mutation_p.R280Q|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.R134Q	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	269					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTTCGCCTCTCGGCCAGCGCC	0.677																																																	0													39	33	35					4																	1987870		2165	4220	6385	SO:0001583	missense	7469			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.806G>A	4.37:g.1987870C>T	ENSP00000399165:p.Arg269Gln		A2A2T1|O95392	Missense_Mutation	SNP	NULL	p.R280Q	ENST00000411638.2	37	c.839		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.563327|4.563327	0.86335|0.86335	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000453740|ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	.|T;T;T;T;T;T	.|0.54675	.|0.56;0.56;0.56;0.56;0.56;0.56	5.42|5.42	4.58|4.58	0.56647|0.56647	.|.	.|0.055113	.|0.64402	.|N	.|0.000001	T|T	0.45337|0.45337	0.1337|0.1337	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.33494	.|0.414	.|B	.|0.20767	.|0.031	T|T	0.37798|0.37798	-0.9690|-0.9690	5|10	.|0.21014	.|T	.|0.42	-12.5738|-12.5738	14.0137|14.0137	0.64513|0.64513	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	.|269	.|Q9H3P2	.|NELFA_HUMAN	K|Q	170|280;273;134;269;285;199	.|ENSP00000372335:R280Q;ENSP00000387647:R273Q;ENSP00000445757:R134Q;ENSP00000399165:R269Q;ENSP00000395761:R285Q;ENSP00000410154:R199Q	.|ENSP00000372335:R280Q	E|R	-|-	1|2	0|0	WHSC2|WHSC2	1957668|1957668	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.693000|0.693000	0.40251|0.40251	7.697000|7.697000	0.84279|0.84279	1.275000|1.275000	0.44379|0.44379	0.462000|0.462000	0.41574|0.41574	GAG|CGA	WHSC2	-	NULL		0.677	NELFA-015	NOVEL	basic|appris_principal	protein_coding	WHSC2	HGNC	protein_coding	OTTHUMT00000473007.1	C	NM_005663		1987870	-1	no_errors	ENST00000382882	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1987870	C	T	1987870	3	4	152	1	0	0	0	0	1	0	0	0	17395	884	31	1	804	1	WHSC2	4	1987870	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	768646	1987870	189166406	106	25680										
ZFYVE28	57732	genome.wustl.edu	37	chr4	2343313	2343313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgggggatgcactcatccatGatctggttaatgatgttcaa	11	7	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:2343313G>A	ENST00000290974.2	-	3	549	c.210C>T	c.(208-210)atC>atT	p.I70I	ZFYVE28_ENST00000509171.1_Silent_p.I23I|ZFYVE28_ENST00000511071.1_Silent_p.I70I|ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000503000.1_Silent_p.I70I|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000515169.1_5'UTR	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	70					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACTCATCCATGATCTGGTTAA	0.567																																																	0													74	65	68					4																	2343313		2203	4300	6503	SO:0001819	synonymous_variant	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.210C>T	4.37:g.2343313G>A			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.I70	ENST00000290974.2	37	c.210	CCDS33942.1	4																																																																																			ZFYVE28	-	NULL		0.567	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	G	XM_035371		2343313	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2343313	G	A	2343313	2	1	152	1	0	0	0	0	0	0	0	1	17700	1280	45	1		1	ZFYVE28	4	2343313	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	355443	2343313	188810963	107	25681										
MSX1	4487	genome.wustl.edu	37	chr4	4864524	4864524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcagctgctggcgctggagcGcaagttccgccagaagcagt	15	12	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:4864524G>A	ENST00000382723.4	+	2	800	c.566G>A	c.(565-567)cGc>cAc	p.R189H	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	189					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCTGGAGCGCAAGTTCCGC	0.647																																																	0													47	56	53					4																	4864524		2202	4299	6501	SO:0001583	missense	4487			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.566G>A	4.37:g.4864524G>A	ENSP00000372170:p.Arg189His		A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R189H	ENST00000382723.4	37	c.566	CCDS3378.2	4	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827022	0.90955	.	.	ENSG00000163132	ENST00000382723	D	0.95238	-3.65	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96078	0.9051	10	0.87932	D	0	-5.9381	14.8085	0.69977	0.0:0.0:0.8555:0.1445	.	183	P28360	MSX1_HUMAN	H	189	ENSP00000372170:R189H	ENSP00000372170:R189H	R	+	2	0	MSX1	4915425	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.612000	0.67681	2.391000	0.81399	0.462000	0.41574	CGC	MSX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.647	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	G			4864524	1	no_errors	ENST00000382723	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4864524	G	A	4864524	3	1	152	1	0	0	0	0	1	0	0	0	9918	1087	38	2	572	2	MSX1	4	4864524	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2521211	4864524	186289752	108	25682										
PTTG2	23216	genome.wustl.edu	37	chr4	37962321	37962321	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acaaaaacagccaagcttttCtgccaaaaagatgaccgaga	7	10	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:37962321C>G	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Missense_Mutation_p.S89C|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAAGCTTTTCTGCCAAAAAG	0.403																																																	0													80	90	87					4																	37962321		2198	4300	6498	SO:0001627	intron_variant	10744			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53809C>G	4.37:g.37962321C>G			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Securin_separation_inhibitor	p.S89C	ENST00000261439.4	37	c.266	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	C	4.790	0.146893	0.09134	.	.	ENSG00000250254	ENST00000504686	T	0.50001	0.76	1.9	-0.0852	0.13687	.	.	.	.	.	T	0.36276	0.0961	L	0.46157	1.445	0.09310	N	1	B	0.21821	0.061	B	0.23716	0.048	T	0.37079	-0.9721	9	0.59425	D	0.04	.	3.823	0.08843	0.0:0.5434:0.0:0.4566	.	89	Q9NZH5-2	.	C	89	ENSP00000424261:S89C	ENSP00000424261:S89C	S	+	2	0	PTTG2	37638716	0.000000	0.05858	0.038000	0.18304	0.005000	0.04900	0.089000	0.15002	0.117000	0.18138	-0.384000	0.06662	TCT	PTTG2	-	pfam_Securin_separation_inhibitor		0.403	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG2	HGNC	protein_coding	OTTHUMT00000317443.2	C	NM_015173		37962321	1	no_errors	ENST00000504686	ensembl	human	known	70_37	missense	SNP	0.016	G	G	37962321	C	G	37962321	1	3	152	0	1	0	0	0	0	0	0	0	12851	913	32	1		1	PTTG2	4	37962321	Intron	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	33097797	37962321	153191955	109	25683										
KLB	152831	genome.wustl.edu	37	chr4	39448764	39448764	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agctcggccctgccgcgcctCaccgaggccgaaaggaggct	14	16	1	0	rs202121733	byFrequency	TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:39448764C>T	ENST00000257408.4	+	4	2515	c.2418C>T	c.(2416-2418)ctC>ctT	p.L806L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	806	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCCGCGCCTCACCGAGGCCG	0.662													C|||	31	0.0061901	0	0	5008	,	,		17781	0		0	False		,,,				2504	0.0317																0													30	31	31					4																	39448764		2203	4295	6498	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2418C>T	4.37:g.39448764C>T			Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L806	ENST00000257408.4	37	c.2418	CCDS3451.1	4																																																																																			KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.662	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	C	NM_175737		39448764	1	no_errors	ENST00000257408	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39448764	C	T	39448764	2	4	152	1	0	0	0	0	0	0	0	1	8352	813	29	1		1	KLB	4	39448764	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1486443	39448764	151705512	110	25684										
COPS4	51138	genome.wustl.edu	37	chr4	83987636	83987636	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tattgaacacaatttgttgtCtgcaagcaaattatataata	5	5	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:83987636C>T	ENST00000264389.2	+	8	1067	c.932C>T	c.(931-933)tCt>tTt	p.S311F	COPS4_ENST00000509093.1_Missense_Mutation_p.S311F|COPS4_ENST00000511653.1_Missense_Mutation_p.S311F|COPS4_ENST00000503682.1_Missense_Mutation_p.S343F	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	311	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AATTTGTTGTCTGCAAGCAAA	0.318																																																	0													83	88	86					4																	83987636		2202	4295	6497	SO:0001583	missense	51138			AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.932C>T	4.37:g.83987636C>T	ENSP00000264389:p.Ser311Phe		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.S311F	ENST00000264389.2	37	c.932	CCDS3600.1	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245785	0.80024	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.23	4.39	0.52855	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.059335	0.64402	N	0.000001	T	0.57770	0.2076	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.76575	0.985;0.983;0.979;0.988	T	0.64601	-0.6369	10	0.62326	D	0.03	-3.9396	13.9609	0.64177	0.0:0.9272:0.0:0.0727	.	311;343;311;311	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	F	311;311;199;343;311	ENSP00000425976:S311F;ENSP00000264389:S311F;ENSP00000425486:S199F;ENSP00000424791:S343F;ENSP00000424655:S311F	ENSP00000264389:S311F	S	+	2	0	COPS4	84206660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.367000	0.79558	1.447000	0.47661	-0.140000	0.14226	TCT	COPS4	-	pfam_PCI_dom,smart_PCI_dom		0.318	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS4	HGNC	protein_coding	OTTHUMT00000252643.1	C			83987636	1	no_errors	ENST00000264389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83987636	C	T	83987636	3	4	152	1	0	0	0	0	1	0	0	0	3740	913	32	1	962	1	COPS4	4	83987636	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	44538872	83987636	107166640	111	25685										
NFKB1	4790	genome.wustl.edu	37	chr4	103518705	103518705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttctagagaaggctatgcaGcttgcaaagaggcatgccaa	11	8	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:103518705G>A	ENST00000505458.1	+	15	1798	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	NFKB1_ENST00000600343.1_Silent_p.Q327Q|NFKB1_ENST00000226574.4_Silent_p.Q508Q|NFKB1_ENST00000394820.4_Silent_p.Q507Q			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	507	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AGGCTATGCAGCTTGCAAAGA	0.493																																																	0													110	100	104					4																	103518705		2203	4300	6503	SO:0001819	synonymous_variant	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1521G>A	4.37:g.103518705G>A			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.Q508	ENST00000505458.1	37	c.1524	CCDS54783.1	4																																																																																			NFKB1	-	NULL		0.493	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	G			103518705	1	no_errors	ENST00000226574	ensembl	human	known	70_37	silent	SNP	1.000	A	A	103518705	G	A	103518705	2	1	152	1	0	0	0	0	0	0	0	1	10399	962	34	4		4	NFKB1	4	103518705	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	19531069	103518705	87635571	112	25686										
CCNA2	890	genome.wustl.edu	37	chr4	122739202	122739202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tccaagttaattcttactttGaatttttgtacttttctctt	3	7	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:122739202G>A	ENST00000274026.5	-	7	1550	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	416					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TTCTTACTTTGAATTTTTGTA	0.378																																																	0													87	87	87					4																	122739202		2203	4300	6503	SO:0001583	missense	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1247C>T	4.37:g.122739202G>A	ENSP00000274026:p.Ser416Leu		A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.S416L	ENST00000274026.5	37	c.1247	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990375	0.74589	.	.	ENSG00000145386	ENST00000274026	T	0.25912	1.77	6.08	6.08	0.98989	Cyclin, C-terminal (1);Cyclin-like (2);	0.414726	0.26750	N	0.022699	T	0.33177	0.0854	M	0.71036	2.16	0.42555	D	0.993123	B	0.31817	0.341	B	0.39617	0.305	T	0.10451	-1.0629	10	0.39692	T	0.17	.	9.6637	0.39972	0.0698:0.0:0.7885:0.1417	.	416	P20248	CCNA2_HUMAN	L	416	ENSP00000274026:S416L	ENSP00000274026:S416L	S	-	2	0	CCNA2	122958652	0.990000	0.36364	0.980000	0.43619	0.964000	0.63967	6.547000	0.73892	2.894000	0.99253	0.591000	0.81541	TCA	CCNA2	-	pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E		0.378	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	G	NM_001237		122739202	-1	no_errors	ENST00000274026	ensembl	human	known	70_37	missense	SNP	0.894	A	A	122739202	G	A	122739202	3	1	152	1	0	0	0	0	1	0	0	0	2915	1294	45	1	59	1	CCNA2	4	122739202	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	19220497	122739202	68415074	113	25687										
INTU	27152	genome.wustl.edu	37	chr4	128564836	128564836	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcattgaagatgactacaaaGaaagaaaaaagtatgaaccc	7	6	1	6			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:128564836G>C	ENST00000335251.6	+	2	410	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	INTU_ENST00000296461.5_Missense_Mutation_p.E103Q	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	103					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGACTACAAAGAAAGAAAAAA	0.358																																																	0													85	93	90					4																	128564836		2203	4300	6503	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.307G>C	4.37:g.128564836G>C	ENSP00000334003:p.Glu103Gln		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E103Q	ENST00000335251.6	37	c.307	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132384	0.37630	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.46063	0.88	5.1	5.1	0.69264	.	0.254278	0.40064	N	0.001181	T	0.36608	0.0973	L	0.57536	1.79	0.37013	D	0.895846	P	0.47910	0.902	B	0.40864	0.342	T	0.35895	-0.9770	10	0.27785	T	0.31	-16.8428	9.4408	0.38668	0.0928:0.0:0.9072:0.0	.	103	Q9ULD6	PDZD6_HUMAN	Q	84;103;103	ENSP00000296461:E103Q	ENSP00000296461:E103Q	E	+	1	0	INTU	128784286	1.000000	0.71417	0.981000	0.43875	0.204000	0.24138	4.607000	0.61133	2.652000	0.90054	0.655000	0.94253	GAA	INTU	-	NULL		0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	G	XM_371707		128564836	1	no_errors	ENST00000335251	ensembl	human	known	70_37	missense	SNP	0.998	C	C	128564836	G	C	128564836	3	2	152	1	0	0	0	0	1	0	0	0	7806	943	33	1	313	1	INTU	4	128564836	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5825634	128564836	62589440	114	25688										
C4orf41	60684	genome.wustl.edu	37	chr4	184626182	184626182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cacaactgtcatcactctgcCgcacgtgattgtggagaata	9	11	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr4:184626182C>T	ENST00000334690.6	+	27	3216	c.3014C>T	c.(3013-3015)cCg>cTg	p.P1005L	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.P1005L|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.P611L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1005					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATCACTCTGCCGCACGTGATT	0.383																																																	0													171	158	162					4																	184626182		2203	4300	6503	SO:0001583	missense	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3014C>T	4.37:g.184626182C>T	ENSP00000335371:p.Pro1005Leu		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.P1005L	ENST00000334690.6	37	c.3014	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833448	0.91036	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000512476	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.80248	-0.1461	9	0.46703	T	0.11	.	18.1806	0.89776	0.0:1.0:0.0:0.0	.	736;611;1005;1005	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	L	1005;1005;611	.	ENSP00000335371:P1005L	P	+	2	0	C4orf41	184863176	1.000000	0.71417	0.986000	0.45419	0.831000	0.47069	7.326000	0.79133	2.295000	0.77249	0.563000	0.77884	CCG	TRAPPC11	-	pfam_DUF1683_C		0.383	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184626182	1	no_errors	ENST00000334690	ensembl	human	known	70_37	missense	SNP	1.000	T	T	184626182	C	T	184626182	3	4	152	1	0	0	0	0	1	0	0	0	2275	652	23	2	3116	2	C4orf41	4	184626182	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	56061346	184626182	6528094	115	25689										
ADCY2	108	genome.wustl.edu	37	chr5	7698477	7698477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaatggggctggacatgtgtGaagccataaagtaagtggac	14	5	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:7698477G>A	ENST00000338316.4	+	7	1188	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E187K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	367					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGACATGTGTGAAGCCATAAA	0.403																																																	0													142	139	140					5																	7698477		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1099G>A	5.37:g.7698477G>A	ENSP00000342952:p.Glu367Lys		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E367K	ENST00000338316.4	37	c.1099	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401699	0.83120	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.81739	-1.53;-1.53	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	L	0.28458	0.855	0.51233	D	0.999913	P;P	0.35821	0.518;0.523	B;P	0.45913	0.417;0.497	T	0.77635	-0.2514	10	0.42905	T	0.14	.	15.5263	0.75910	0.0:0.1375:0.8625:0.0	.	187;367	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	367;218;187	ENSP00000342952:E367K;ENSP00000444803:E187K	ENSP00000342952:E367K	E	+	1	0	ADCY2	7751477	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.502000	0.81614	2.748000	0.94277	0.655000	0.94253	GAA	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.403	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	G	NM_020546		7698477	1	no_errors	ENST00000338316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7698477	G	A	7698477	3	1	152	1	0	0	0	0	1	0	0	0	294	1291	45	1	1125	1	ADCY2	5	7698477	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		7698477	173216783	116	25690										
DNAH5	1767	genome.wustl.edu	37	chr5	13885200	13885200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	catgttctgatggttgaaatGagagagtaactcgcgggctt	13	6	1	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:13885200G>A	ENST00000265104.4	-	19	2985	c.2881C>T	c.(2881-2883)Cat>Tat	p.H961Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	961	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGTTGAAATGAGAGAGTAAC	0.438									Kartagener syndrome																																								0													130	123	125					5																	13885200		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2881C>T	5.37:g.13885200G>A	ENSP00000265104:p.His961Tyr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H961Y	ENST00000265104.4	37	c.2881	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	3.571	-0.087543	0.07097	.	.	ENSG00000039139	ENST00000265104	T	0.21191	2.02	5.73	4.85	0.62838	.	0.408512	0.29424	N	0.012182	T	0.10165	0.0249	N	0.12471	0.22	0.32861	D	0.508008	B	0.02656	0.0	B	0.04013	0.001	T	0.16129	-1.0413	10	0.02654	T	1	.	11.8043	0.52145	0.1534:0.0:0.8466:0.0	.	961	Q8TE73	DYH5_HUMAN	Y	961	ENSP00000265104:H961Y	ENSP00000265104:H961Y	H	-	1	0	DNAH5	13938200	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	2.874000	0.48483	1.411000	0.46957	0.655000	0.94253	CAT	DNAH5	-	NULL		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13885200	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13885200	G	A	13885200	3	1	152	1	0	0	0	0	1	0	0	0	4614	1290	45	1	11237	1	DNAH5	5	13885200	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6186723	13885200	167030060	117	25691										
ITGA1	3672	genome.wustl.edu	37	chr5	52223484	52223484	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggatatcccttcctgagaaGaggagagatggtgagcagat	14	6	0	5			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:52223484G>A	ENST00000282588.6	+	20	3142	c.2684G>A	c.(2683-2685)aGa>aAa	p.R895K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	895					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCCTGAGAAGAGGAGAGATG	0.333																																																	0													121	117	118					5																	52223484		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2684G>A	5.37:g.52223484G>A	ENSP00000282588:p.Arg895Lys		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R895K	ENST00000282588.6	37	c.2684	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.360539	0.01245	.	.	ENSG00000213949	ENST00000282588	T	0.52754	0.65	5.53	-5.72	0.02406	Integrin alpha-2 (1);	1.183960	0.05651	N	0.585176	T	0.20210	0.0486	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27331	-1.0077	10	0.13853	T	0.58	.	8.9146	0.35574	0.3795:0.3854:0.235:0.0	.	895	P56199	ITA1_HUMAN	K	895	ENSP00000282588:R895K	ENSP00000282588:R895K	R	+	2	0	ITGA1	52259241	0.218000	0.23608	0.031000	0.17742	0.440000	0.31957	-0.387000	0.07361	-1.668000	0.01471	-0.797000	0.03246	AGA	ITGA1	-	pfam_Integrin_alpha-2		0.333	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52223484	1	no_errors	ENST00000282588	ensembl	human	known	70_37	missense	SNP	0.000	A	A	52223484	G	A	52223484	3	1	152	1	0	0	0	0	1	0	0	0	7892	942	33	1	2762	1	ITGA1	5	52223484	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	38338284	52223484	128691776	118	25692										
DHX29	54505	genome.wustl.edu	37	chr5	54585104	54585104	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcccttaattttacctttctCttcttcagtagcagctgcag	5	12	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:54585104C>A	ENST00000251636.5	-	8	1208	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	354						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTACCTTTCTCTTCTTCAGTA	0.323																																																	0													43	44	44					5																	54585104		2200	4299	6499	SO:0001587	stop_gained	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1060G>T	5.37:g.54585104C>A	ENSP00000251636:p.Glu354*		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E354*	ENST00000251636.5	37	c.1060	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.522172	0.97633	.	.	ENSG00000067248	ENST00000251636	.	.	.	6.06	4.22	0.49857	.	0.129287	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.7121	0.85388	0.0:0.6354:0.3646:0.0	.	.	.	.	X	354	.	ENSP00000251636:E354X	E	-	1	0	DHX29	54620861	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.942000	0.40243	0.833000	0.34828	0.650000	0.86243	GAG	DHX29	-	NULL		0.323	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54585104	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	54585104	C	A	54585104	4	1	152	1	0	0	0	0	0	1	0	0	4513	922	32	3	3129	3	DHX29	5	54585104	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2361620	54585104	126330156	119	25693										
ZNF366	167465	genome.wustl.edu	37	chr5	71756459	71756459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtggctgagctgcttgaagaGcttcccgcagtgcgtgcacg	15	11	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:71756459G>C	ENST00000318442.5	-	2	1355	c.865C>G	c.(865-867)Ctc>Gtc	p.L289V		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	289					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCTTGAAGAGCTTCCCGCAG	0.632																																																	0													115	103	107					5																	71756459		2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.865C>G	5.37:g.71756459G>C	ENSP00000313158:p.Leu289Val		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L289V	ENST00000318442.5	37	c.865	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342776	0.82022	.	.	ENSG00000178175	ENST00000318442	T	0.75367	-0.93	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000018	T	0.74680	0.3748	N	0.05012	-0.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77135	-0.2699	10	0.33940	T	0.23	-48.7211	20.0407	0.97588	0.0:0.0:1.0:0.0	.	289	Q8N895	ZN366_HUMAN	V	289	ENSP00000313158:L289V	ENSP00000313158:L289V	L	-	1	0	ZNF366	71792215	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.746000	0.94184	0.561000	0.74099	CTC	ZNF366	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	G			71756459	-1	no_errors	ENST00000318442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71756459	G	C	71756459	3	2	152	1	0	0	0	0	1	0	0	0	17900	971	34	4	1385	4	ZNF366	5	71756459	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	17171355	71756459	109158801	120	25694										
CMYA5	202333	genome.wustl.edu	37	chr5	79034399	79034399	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaaaacgagttggtaaggatGattcataccaaccgatagct	9	7	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:79034399G>A	ENST00000446378.2	+	2	9842	c.9811G>A	c.(9811-9813)Gat>Aat	p.D3271N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3271					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGTAAGGATGATTCATACCA	0.428																																																	0													96	92	93					5																	79034399		1874	4117	5991	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9811G>A	5.37:g.79034399G>A	ENSP00000394770:p.Asp3271Asn		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.D3271N	ENST00000446378.2	37	c.9811	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	16.78	3.219011	0.58560	.	.	ENSG00000164309	ENST00000446378	T	0.25250	1.81	5.89	5.89	0.94794	.	0.235594	0.29948	N	0.010784	T	0.48572	0.1507	M	0.69823	2.125	0.36536	D	0.870991	D	0.71674	0.998	P	0.61940	0.896	T	0.56745	-0.7928	10	0.72032	D	0.01	.	15.7577	0.78046	0.0:0.0:1.0:0.0	.	3271	Q8N3K9	CMYA5_HUMAN	N	3271	ENSP00000394770:D3271N	ENSP00000394770:D3271N	D	+	1	0	CMYA5	79070155	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.444000	0.44890	2.783000	0.95769	0.655000	0.94253	GAT	CMYA5	-	NULL		0.428	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79034399	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79034399	G	A	79034399	3	1	152	1	0	0	0	0	1	0	0	0	3595	1290	45	1	9817	1	CMYA5	5	79034399	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7277940	79034399	101880861	121	25695										
GPR98	84059	genome.wustl.edu	37	chr5	90106730	90106730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgccaatgtttccattcatgGaacattcagccttgggccat	8	11	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:90106730G>A	ENST00000405460.2	+	74	15749	c.15653G>A	c.(15652-15654)gGa>gAa	p.G5218E	GPR98_ENST00000425867.2_Missense_Mutation_p.G879E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5218					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCATTCATGGAACATTCAGC	0.458																																																	0													88	83	85					5																	90106730		1922	4148	6070	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15653G>A	5.37:g.90106730G>A	ENSP00000384582:p.Gly5218Glu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G5218E	ENST00000405460.2	37	c.15653	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791991	0.50102	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.33654	1.4;1.4	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.54886	-0.8226	9	.	.	.	.	18.8078	0.92045	0.0:0.0:1.0:0.0	.	879;5218;879	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	E	5218;5218;879	ENSP00000384582:G5218E;ENSP00000392618:G879E	.	G	+	2	0	GPR98	90142486	1.000000	0.71417	0.162000	0.22713	0.108000	0.19459	7.413000	0.80104	2.524000	0.85096	0.563000	0.77884	GGA	GPR98	-	NULL		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90106730	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.994	A	A	90106730	G	A	90106730	3	1	152	1	0	0	0	0	1	0	0	0	6741	1174	41	1	15947	1	GPR98	5	90106730	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	11072331	90106730	90808530	122	25696										
ERAP1	51752	genome.wustl.edu	37	chr5	96112236	96112236	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagaaccattttctttcaaaGagctgaagaatccttttacc	6	9	2	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:96112236G>C	ENST00000443439.2	-	19	2756	c.2690C>G	c.(2689-2691)tCt>tGt	p.S897C	ERAP1_ENST00000296754.3_Missense_Mutation_p.S897C	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	897					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTCTTTCAAAGAGCTGAAGAA	0.318																																																	0													87	82	83					5																	96112236		2203	4300	6503	SO:0001583	missense	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2690C>G	5.37:g.96112236G>C	ENSP00000406304:p.Ser897Cys		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S897C	ENST00000443439.2	37	c.2690	CCDS47250.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.284243|3.284243	0.59867|0.59867	.|.	.|.	ENSG00000164307|ENSG00000164307	ENST00000512852|ENST00000296754;ENST00000443439;ENST00000414384	.|T;T	.|0.06218	.|3.33;3.33	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28962|0.28962	0.0719|0.0719	M|M	0.80183|0.80183	2.485|2.485	0.52099|0.52099	D|D	0.999948|0.999948	.|P;D;D	.|0.76494	.|0.495;0.999;0.999	.|B;D;D	.|0.67231	.|0.188;0.95;0.916	T|T	0.00361|0.00361	-1.1789|-1.1789	5|10	.|0.72032	.|D	.|0.01	.|.	20.0338|20.0338	0.97549|0.97549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|897;897;897	.|A8K6H1;Q9NZ08;Q9NZ08-2	.|.;ERAP1_HUMAN;.	V|C	76|897	.|ENSP00000296754:S897C;ENSP00000406304:S897C	.|ENSP00000296754:S897C	L|S	-|-	1|2	0|0	ERAP1|ERAP1	96137992|96137992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.073000|7.073000	0.76784|0.76784	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CTT|TCT	ERAP1	-	NULL		0.318	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	G	NM_016442		96112236	-1	no_errors	ENST00000296754	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96112236	G	C	96112236	3	2	152	1	0	0	0	0	1	0	0	0	5215	942	33	1	172	1	ERAP1	5	96112236	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6005506	96112236	84803024	123	25697										
YTHDC2	64848	genome.wustl.edu	37	chr5	112929060	112929060	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggaacgtcttcccttgggaGaaaaaaacacaactgattga	10	8	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:112929060G>C	ENST00000161863.4	+	29	4486	c.4273G>C	c.(4273-4275)Gaa>Caa	p.E1425Q		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1425					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCCCTTGGGAGAAAAAAACAC	0.358																																																	0													96	90	92					5																	112929060		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4273G>C	5.37:g.112929060G>C	ENSP00000161863:p.Glu1425Gln		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1425Q	ENST00000161863.4	37	c.4273	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690903	0.48097	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02631	4.22	5.98	5.98	0.97165	.	0.314453	0.34531	N	0.003892	T	0.02380	0.0073	L	0.29908	0.895	0.80722	D	1	P	0.37466	0.596	B	0.26864	0.074	T	0.54938	-0.8218	10	0.62326	D	0.03	.	10.0269	0.42076	0.0693:0.0:0.7924:0.1383	.	1425	Q9H6S0	YTDC2_HUMAN	Q	1425;1335	ENSP00000161863:E1425Q	ENSP00000161863:E1425Q	E	+	1	0	YTHDC2	112956959	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.411000	0.52672	2.839000	0.97877	0.650000	0.86243	GAA	YTHDC2	-	NULL		0.358	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112929060	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112929060	G	C	112929060	3	2	152	1	0	0	0	0	1	0	0	0	17528	943	33	1	4387	1	YTHDC2	5	112929060	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	16816824	112929060	67986200	124	25698										
SEMA6A	57556	genome.wustl.edu	37	chr5	115822519	115822519	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atcacatctgtaactgcctgGagaatgttgaaataaaaatg	8	6	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:115822519G>T	ENST00000343348.6	-	10	1675	c.888C>A	c.(886-888)ctC>ctA	p.L296L	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.L296L|SEMA6A_ENST00000510263.1_Silent_p.L296L|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	296	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAACTGCCTGGAGAATGTTGA	0.473																																																	0													128	125	126					5																	115822519		2000	4196	6196	SO:0001819	synonymous_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.888C>A	5.37:g.115822519G>T			Q9P2H9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.L296	ENST00000343348.6	37	c.888	CCDS47256.1	5																																																																																			SEMA6A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.473	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	G	NM_020796		115822519	-1	no_errors	ENST00000257414	ensembl	human	known	70_37	silent	SNP	0.695	T	T	115822519	G	T	115822519	2	4	152	1	0	0	0	0	0	0	0	1	14069	1161	41	3		3	SEMA6A	5	115822519	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2893459	115822519	65092741	125	25699										
ANKHD1	54882	genome.wustl.edu	37	chr5	139889325	139889325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	taatgctccccctgtgccttCctcaagagatactgctttaa	6	13	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:139889325C>A	ENST00000360839.2	+	21	4023	c.3869C>A	c.(3868-3870)tCc>tAc	p.S1290Y	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1290Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S1290Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1290						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTGCCTTCCTCAAGAGAT	0.428																																																	0													96	89	91					5																	139889325		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3869C>A	5.37:g.139889325C>A	ENSP00000354085:p.Ser1290Tyr		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.S1290Y	ENST00000360839.2	37	c.3869	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.921699|4.921699	0.92319|0.92319	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.|T;T;T;T;T	.|0.16073	.|2.37;2.37;2.37;2.37;2.37	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.42008|0.42008	1.315|1.315	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.997;0.998;0.995	.|D;D;D;D;D	.|0.80764	.|0.99;0.994;0.974;0.991;0.986	T|T	0.02691|0.02691	-1.1123|-1.1123	5|10	.|0.59425	.|D	.|0.04	.|.	19.7382|19.7382	0.96215|0.96215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|501;1290;1309;1290;1290	.|E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;ANKH1_HUMAN	T|Y	516|1290;1323;1290;1290;824;501;1309;443;1290	.|ENSP00000354085:S1290Y;ENSP00000297183:S1290Y;ENSP00000394489:S1309Y;ENSP00000405602:S443Y;ENSP00000432016:S1290Y	.|ENSP00000432016:S1290Y	P|S	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139869509|139869509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.741000|2.741000	0.93983|0.93983	0.585000|0.585000	0.79938|0.79938	CCT|TCC	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.428	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139889325	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139889325	C	A	139889325	3	1	152	1	0	0	0	0	1	0	0	0	628	855	30	3	4057	3	ANKHD1	5	139889325	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	24066806	139889325	41025935	126	25700										
PCDHB4	56131	genome.wustl.edu	37	chr5	140501901	140501901	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgtgtactgcatttccaagtGttcctggaaatgccggtgca	11	9	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:140501901G>T	ENST00000194152.1	+	1	321	c.321G>T	c.(319-321)gtG>gtT	p.V107V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTCCAAGTGTTCCTGGAAA	0.448																																																	0													53	58	56					5																	140501901		2203	4300	6503	SO:0001819	synonymous_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.321G>T	5.37:g.140501901G>T			Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V107	ENST00000194152.1	37	c.321	CCDS4246.1	5																																																																																			PCDHB4	-	pfam_Cadherin_N		0.448	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	G	NM_018938		140501901	1	no_errors	ENST00000194152	ensembl	human	known	70_37	silent	SNP	0.011	T	T	140501901	G	T	140501901	2	4	152	1	0	0	0	0	0	0	0	1	11568	1364	48	4		4	PCDHB4	5	140501901	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	612576	140501901	40413359	127	25701										
HTR4	3360	genome.wustl.edu	37	chr5	147845452	147845452	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acaggaactggtctattgcaGaagagcaggaggaagctgga	15	6	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:147845452G>A	ENST00000314512.6	-	7	1276	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	HTR4_ENST00000521735.1_Silent_p.F371F|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521530.1_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GTCTATTGCAGAAGAGCAGGA	0.438																																					GBM(120;370 1604 14007 17804 41573)												0													148	159	155					5																	147845452		2203	4300	6503	SO:0001819	synonymous_variant	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1113C>T	5.37:g.147845452G>A			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.F371	ENST00000314512.6	37	c.1113	CCDS34271.1	5																																																																																			HTR4	-	NULL		0.438	HTR4-201	KNOWN	basic|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000374235.1	G	NM_000870		147845452	-1	no_errors	ENST00000314512	ensembl	human	known	70_37	silent	SNP	1.000	A	A	147845452	G	A	147845452	2	1	152	1	0	0	0	0	0	0	0	1	7469	933	33	1		1	HTR4	5	147845452	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7343551	147845452	33069808	128	25702										
AFAP1L1	134265	genome.wustl.edu	37	chr5	148682038	148682038	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccctgaggactactatgaaGaggcccttcctctgggaccc	10	15	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:148682038G>T	ENST00000296721.4	+	5	483	c.385G>T	c.(385-387)Gag>Tag	p.E129*	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Nonsense_Mutation_p.E129*	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	129						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTATGAAGAGGCCCTTCC	0.617																																																	0													26	24	25					5																	148682038		2203	4296	6499	SO:0001587	stop_gained	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.385G>T	5.37:g.148682038G>T	ENSP00000296721:p.Glu129*		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E129*	ENST00000296721.4	37	c.385	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.719407	0.97788	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-36.8226	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	129	.	ENSP00000296721:E129X	E	+	1	0	AFAP1L1	148662231	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GAG	AFAP1L1	-	NULL		0.617	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	G	NM_152406		148682038	1	no_errors	ENST00000296721	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	148682038	G	T	148682038	4	4	152	1	0	0	0	0	0	1	0	0	354	943	33	3	403	3	AFAP1L1	5	148682038	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	836586	148682038	32233222	129	25703										
CAMK2A	815	genome.wustl.edu	37	chr5	149644551	149644551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcttcagcaggcggcagatgCgggcttcacgctccagcttc	13	14	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr5:149644551C>T	ENST00000348628.6	-	3	850	c.185G>A	c.(184-186)cGc>cAc	p.R62H	CAMK2A_ENST00000398376.3_Missense_Mutation_p.R62H	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGCAGATGCGGGCTTCACG	0.627																																																	0													45	49	48					5																	149644551		2004	4193	6197	SO:0001583	missense	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.185G>A	5.37:g.149644551C>T	ENSP00000261793:p.Arg62His		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.R62H	ENST00000348628.6	37	c.185	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	c	27.6	4.848224	0.91277	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000510347	T;T;T	0.66638	-0.22;-0.22;-0.22	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000002	T	0.77018	0.4069	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.80764	0.77;0.994	T	0.79349	-0.1840	10	0.87932	D	0	.	13.2562	0.60081	0.0:1.0:0.0:0.0	.	62;62	Q9UQM7;A8K161	KCC2A_HUMAN;.	H	62	ENSP00000261793:R62H;ENSP00000381412:R62H;ENSP00000426607:R62H	ENSP00000261793:R62H	R	-	2	0	CAMK2A	149624744	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.110000	0.71535	2.281000	0.76405	0.306000	0.20318	CGC	CAMK2A	-	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		0.627	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	C	NM_015981		149644551	-1	no_errors	ENST00000398376	ensembl	human	known	70_37	missense	SNP	1.000	T	T	149644551	C	T	149644551	3	4	152	1	0	0	0	0	1	0	0	0	2604	768	27	2	1352	2	CAMK2A	5	149644551	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	962513	149644551	31270709	130	25704										
C6orf146	222826	genome.wustl.edu	37	chr6	4069315	4069315	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttttagagacagtggtctaGaattccatctatatttgcca	7	7	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:4069315G>A	ENST00000274673.3	-	7	1545	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	381																	CAGTGGTCTAGAATTCCATCT	0.338																																																	0													111	117	115					6																	4069315		2203	4300	6503	SO:0001583	missense	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1142C>T	6.37:g.4069315G>A	ENSP00000274673:p.Ser381Phe		Q5JYK1	Missense_Mutation	SNP	NULL	p.S381F	ENST00000274673.3	37	c.1142	CCDS4489.1	6	.	.	.	.	.	.	.	.	.	.	G	8.939	0.965264	0.18583	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.26518	1.73	5.16	3.31	0.37934	.	0.470835	0.19934	N	0.102793	T	0.19967	0.0480	M	0.62723	1.935	0.09310	N	1	P	0.50617	0.937	P	0.51777	0.679	T	0.04621	-1.0938	10	0.87932	D	0	-2.9659	8.1696	0.31247	0.0:0.1734:0.6466:0.18	.	381	Q8IXS0	CF146_HUMAN	F	381;228;509	ENSP00000274673:S381F	ENSP00000274673:S381F	S	-	2	0	C6orf146	4014314	0.029000	0.19370	0.002000	0.10522	0.003000	0.03518	2.376000	0.44292	0.688000	0.31529	-0.321000	0.08615	TCT	FAM217A	-	NULL		0.338	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217A	HGNC	protein_coding	OTTHUMT00000352577.2	G	NM_173563		4069315	-1	no_errors	ENST00000274673	ensembl	human	known	70_37	missense	SNP	0.004	A	A	4069315	G	A	4069315	3	1	152	1	0	0	0	0	1	0	0	0	2340	942	33	1	388	1	C6orf146	6	4069315	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		4069315	167045752	131	25705										
LY86	9450	genome.wustl.edu	37	chr6	6649893	6649893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgggcctgtcaataatcctGaatttactattcctcaggta	7	10	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:6649893G>A	ENST00000379953.2	+	5	740	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	LY86_ENST00000230568.4_Missense_Mutation_p.E130K			O95711	LY86_HUMAN	lymphocyte antigen 86	130					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CAATAATCCTGAATTTACTAT	0.313																																																	0													91	88	89					6																	6649893		2203	4300	6503	SO:0001583	missense	9450			AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.388G>A	6.37:g.6649893G>A	ENSP00000369286:p.Glu130Lys		Q9UQC4	Missense_Mutation	SNP	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog	p.E130K	ENST00000379953.2	37	c.388	CCDS4498.1	6	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.934277	0.00488	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.46451	0.87;0.87	4.93	3.01	0.34805	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.857811	0.10143	N	0.710618	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.40478	-0.9561	10	0.06891	T	0.86	-7.8118	5.6577	0.17652	0.101:0.0:0.706:0.193	.	130	O95711	LY86_HUMAN	K	130	ENSP00000369286:E130K;ENSP00000230568:E130K	ENSP00000230568:E130K	E	+	1	0	LY86	6594892	0.007000	0.16637	0.180000	0.23079	0.112000	0.19704	1.214000	0.32419	1.205000	0.43262	0.645000	0.84053	GAA	LY86	-	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog		0.313	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY86	HGNC	protein_coding	OTTHUMT00000039762.2	G			6649893	1	no_errors	ENST00000230568	ensembl	human	known	70_37	missense	SNP	0.025	A	A	6649893	G	A	6649893	3	1	152	1	0	0	0	0	1	0	0	0	9123	1291	45	1	402	1	LY86	6	6649893	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2580578	6649893	164465174	132	25706										
BTN2A1	11120	genome.wustl.edu	37	chr6	26463496	26463496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggctctaagcccctcatttCaatgaggggccatgaagacg	11	11	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:26463496C>T	ENST00000312541.5	+	4	703	c.455C>T	c.(454-456)tCa>tTa	p.S152L	BTN2A1_ENST00000469185.1_Missense_Mutation_p.S152L|BTN2A1_ENST00000429381.1_Missense_Mutation_p.S152L|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S91L	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	152					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCCCTCATTTCAATGAGGGGC	0.542																																																	0													54	57	56					6																	26463496		2203	4300	6503	SO:0001583	missense	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.455C>T	6.37:g.26463496C>T	ENSP00000312158:p.Ser152Leu		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.S152L	ENST00000312541.5	37	c.455	CCDS4613.1	6	.	.	.	.	.	.	.	.	.	.	c	6.229	0.410296	0.11812	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T	0.79033	-0.61;0.99;-1.23;-1.23	2.88	1.7	0.24286	.	0.473695	0.19665	N	0.108895	T	0.36303	0.0962	N	0.25144	0.715	0.09310	N	0.999999	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.19647	-1.0299	10	0.26408	T	0.33	.	3.2743	0.06893	0.6199:0.249:0.1311:0.0	.	152;152	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	L	152;91;152;152;152	ENSP00000312158:S152L;ENSP00000443909:S91L;ENSP00000416945:S152L;ENSP00000419043:S152L	ENSP00000265424:S152L	S	+	2	0	BTN2A1	26571475	0.002000	0.14202	0.590000	0.28732	0.004000	0.04260	1.197000	0.32211	0.495000	0.27882	-0.367000	0.07326	TCA	BTN2A1	-	NULL		0.542	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	C	NM_007049		26463496	1	no_errors	ENST00000312541	ensembl	human	known	70_37	missense	SNP	0.495	T	T	26463496	C	T	26463496	3	4	152	1	0	0	0	0	1	0	0	0	1563	838	29	1	465	1	BTN2A1	6	26463496	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	19813603	26463496	144651571	133	25707										
HIST1H4I	8294	genome.wustl.edu	37	chr6	27107193	27107193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtatcaccaagccagccattCggcgccttgctcgccgcggc	11	17	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:27107193C>T	ENST00000354348.2	+	1	118	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	36					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						GCCAGCCATTCGGCGCCTTGC	0.632			T	BCL6	NHL																																			Dom	yes		6	6p21.3	8294	"histone 1, H4i (H4FM)"		L	0													51	53	52					6																	27107193		2203	4300	6503	SO:0001583	missense	8294			AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"Histones / Replication-dependent"	4793	protein-coding gene	gene with protein product		602833	"H4 histone family, member M", "histone 1, H4i"	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.106C>T	6.37:g.27107193C>T	ENSP00000346316:p.Arg36Trp		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R36W	ENST00000354348.2	37	c.106	CCDS4620.1	6	.	.	.	.	.	.	.	.	.	.	.	15.28	2.785860	0.49997	.	.	ENSG00000198339	ENST00000354348	T	0.69561	-0.41	3.95	2.04	0.26737	.	0.000000	0.40818	U	0.001009	D	0.82309	0.5009	H	0.97758	4.07	0.48341	D	0.999631	.	.	.	.	.	.	D	0.85396	0.1128	8	0.87932	D	0	.	10.6547	0.45667	0.3463:0.6537:0.0:0.0	.	.	.	.	W	36	ENSP00000346316:R36W	ENSP00000346316:R36W	R	+	1	2	HIST1H4I	27215172	1.000000	0.71417	0.693000	0.30195	0.059000	0.15707	4.271000	0.58902	0.364000	0.24374	-0.182000	0.12963	CGG	HIST1H4I	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.632	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4I	HGNC	protein_coding	OTTHUMT00000040139.1	C	NM_003495		27107193	1	no_errors	ENST00000354348	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27107193	C	T	27107193	3	4	152	1	0	0	0	0	1	0	0	0	7193	875	31	1	108	1	HIST1H4I	6	27107193	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	643697	27107193	144007874	134	25708										
ZSCAN12	9753	genome.wustl.edu	37	chr6	28366095	28366095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttacgcaggtcccaatcctGtctggtggtatatttctctt	8	10	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:28366095G>T	ENST00000361028.1	-	2	233	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.Q30K			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						TCCCAATCCTGTCTGGTGGTA	0.493																																																	0													297	256	268					6																	28366095		692	1591	2283	SO:0001583	missense	9753			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.88C>A	6.37:g.28366095G>T	ENSP00000354305:p.Gln30Lys		O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q30K	ENST00000361028.1	37	c.88		6	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970310	0.34754	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07444	3.19;3.19	3.11	2.2	0.27929	.	0.376691	0.15959	N	0.236372	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.47873	-0.9083	10	0.34782	T	0.22	.	7.2619	0.26207	0.0:0.0:0.7098:0.2901	.	30;30	A8K187;O43309	.;ZSC12_HUMAN	K	30	ENSP00000354305:Q30K;ENSP00000380039:Q30K	ENSP00000354305:Q30K	Q	-	1	0	ZSCAN12	28474074	0.004000	0.15560	0.032000	0.17829	0.312000	0.27988	0.453000	0.21811	0.586000	0.29626	0.603000	0.83216	CAG	ZSCAN12	-	NULL		0.493	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	G	NM_014724		28366095	-1	no_errors	ENST00000361028	ensembl	human	known	70_37	missense	SNP	0.046	T	T	28366095	G	T	28366095	3	4	152	1	0	0	0	0	1	0	0	0	18258	1386	48	4	1759	4	ZSCAN12	6	28366095	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1258902	28366095	142748972	135	25709										
ZSCAN23	222696	genome.wustl.edu	37	chr6	28403360	28403360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttctcctttacaaactcttCctgttcatgagcatggctca	5	13	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:28403360C>T	ENST00000289788.4	-	3	578	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	ZSCAN23_ENST00000486481.1_5'UTR	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	145					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ACAAACTCTTCCTGTTCATGA	0.498																																																	0													70	57	61					6																	28403360		692	1591	2283	SO:0001583	missense	222696			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.433G>A	6.37:g.28403360C>T	ENSP00000289788:p.Glu145Lys		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E145K	ENST00000289788.4	37	c.433	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246248	0.39697	.	.	ENSG00000187987	ENST00000289788	T	0.05996	3.36	3.75	2.88	0.33553	Transcription regulator SCAN (1);	0.607232	0.13682	N	0.370100	T	0.01254	0.0041	N	0.19112	0.55	0.24505	N	0.994237	B	0.06786	0.001	B	0.04013	0.001	T	0.47573	-0.9107	10	0.22706	T	0.39	.	7.3316	0.26586	0.0:0.8809:0.0:0.1191	.	145	Q3MJ62	ZSC23_HUMAN	K	145	ENSP00000289788:E145K	ENSP00000289788:E145K	E	-	1	0	ZSCAN23	28511339	0.001000	0.12720	0.028000	0.17463	0.045000	0.14185	0.375000	0.20518	1.142000	0.42291	0.557000	0.71058	GAA	ZSCAN23	-	smart_Tscrpt_reg_SCAN		0.498	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	C	XM_167147		28403360	-1	no_errors	ENST00000289788	ensembl	human	known	70_37	missense	SNP	0.832	T	T	28403360	C	T	28403360	3	4	152	1	0	0	0	0	1	0	0	0	18265	864	30	1	744	1	ZSCAN23	6	28403360	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	37265	28403360	142711707	136	25710										
PPP1R10	5514	genome.wustl.edu	37	chr6	30572132	30572132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	taggaaatgacctcttacctCgttcagtttcatccaattca	5	11	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:30572132C>T	ENST00000376511.2	-	13	1811	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	420	Essential for PPP1CA inhibition. {ECO:0000250}.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTCTTACCTCGTTCAGTTTC	0.438																																																	0													135	150	144					6																	30572132		1511	2709	4220	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1259G>A	6.37:g.30572132C>T	ENSP00000365694:p.Arg420Gln		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.R420Q	ENST00000376511.2	37	c.1259	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020961	0.75275	.	.	ENSG00000204569	ENST00000376511	T	0.65364	-0.15	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74928	-0.3497	10	0.87932	D	0	-11.6741	16.8816	0.86064	0.0:1.0:0.0:0.0	.	420	Q96QC0	PP1RA_HUMAN	Q	420	ENSP00000365694:R420Q	ENSP00000365694:R420Q	R	-	2	0	PPP1R10	30680111	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.793000	0.75130	2.514000	0.84764	0.591000	0.81541	CGA	PPP1R10	-	NULL		0.438	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30572132	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30572132	C	T	30572132	3	4	152	1	0	0	0	0	1	0	0	0	12379	884	31	1	1595	1	PPP1R10	6	30572132	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2168772	30572132	140542935	137	25711										
TAP2	6891	genome.wustl.edu	37	chr6	32798442	32798442	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggatatgcaaaggagacgtCttggaatttcacaaccccct	10	10	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:32798442C>T	ENST00000452392.2	-	8	1587	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	TAP2_ENST00000374897.2_Missense_Mutation_p.D472N|TAP2_ENST00000374899.4_Missense_Mutation_p.D472N|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	25						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AAGGAGACGTCTTGGAATTTC	0.547																																																	0													72	65	68					6																	32798442		1511	2709	4220	SO:0001583	missense	6891			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1414G>A	6.37:g.32798442C>T	ENSP00000391806:p.Asp472Asn		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.D472N	ENST00000452392.2	37	c.1414		6	.	.	.	.	.	.	.	.	.	.	C	3.228	-0.158065	0.06544	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.89939	-2.59;-2.59;-2.59	5.48	3.61	0.41365	ABC transporter-like (1);	0.313497	0.27004	N	0.021406	T	0.60907	0.2305	L	0.28458	0.855	0.27620	N	0.948395	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.12156	0.007;0.003;0.003;0.003	T	0.42137	-0.9469	9	0.02654	T	1	-25.5439	7.583	0.27976	0.0:0.7256:0.0:0.2744	.	472;473;472;472	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	N	472	ENSP00000364034:D472N;ENSP00000364032:D472N;ENSP00000391806:D472N	ENSP00000364032:D472N	D	-	1	0	XXbac-BPG246D15.9;TAP2	32906420	0.000000	0.05858	0.006000	0.13384	0.239000	0.25481	-0.140000	0.10342	0.598000	0.29829	0.643000	0.83706	GAC	TAP2	-	pfscan_ABC_transporter-like,tigrfam_Ag_transporter2		0.547	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	C	NM_000544		32798442	-1	no_errors	ENST00000374897	ensembl	human	known	70_37	missense	SNP	0.028	T	T	32798442	C	T	32798442	3	4	152	1	0	0	0	0	1	0	0	0	15581	913	32	1	751	1	TAP2	6	32798442	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2226310	32798442	138316625	138	25712										
MTCH1	23787	genome.wustl.edu	37	chr6	36949434	36949434	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtcccaagggtggggggcatCggctcatgacccaccttcag	14	13	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:36949434C>T	ENST00000373627.5	-	2	460	c.336G>A	c.(334-336)ccG>ccA	p.P112P	MTCH1_ENST00000538808.1_Intron|MTCH1_ENST00000373616.5_Silent_p.P112P	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	112					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGGGGGCATCGGCTCATGAC	0.567																																																	0													52	47	49					6																	36949434		2203	4300	6503	SO:0001819	synonymous_variant	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.336G>A	6.37:g.36949434C>T			A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P112	ENST00000373627.5	37	c.336		6																																																																																			MTCH1	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.567	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	MTCH1	HGNC	protein_coding	OTTHUMT00000040396.1	C	NM_014341		36949434	-1	no_errors	ENST00000373627	ensembl	human	known	70_37	silent	SNP	0.995	T	T	36949434	C	T	36949434	2	4	152	1	0	0	0	0	0	0	0	1	9936	871	31	1		1	MTCH1	6	36949434	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	4150992	36949434	134165633	139	25713										
MTO1	25821	genome.wustl.edu	37	chr6	74183257	74183257	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggtttgtggtgggaaggttGaagactgggactccaccccg	17	8	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:74183257G>A	ENST00000370300.4	+	4	795	c.705G>A	c.(703-705)ttG>ttA	p.L235L	MTO1_ENST00000370305.1_Silent_p.L161L|MTO1_ENST00000415954.2_Silent_p.L235L|MTO1_ENST00000498286.1_Silent_p.L235L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	235					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGGGAAGGTTGAAGACTGGGA	0.458																																																	0													161	145	150					6																	74183257		2203	4300	6503	SO:0001819	synonymous_variant	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.705G>A	6.37:g.74183257G>A			B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.L235	ENST00000370300.4	37	c.705	CCDS4979.1	6																																																																																			MTO1	-	pfam_GIDA-rel,tigrfam_GidA		0.458	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	G	NM_012123		74183257	1	no_errors	ENST00000415954	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74183257	G	A	74183257	2	1	152	1	0	0	0	0	0	0	0	1	9976	1281	45	1		1	MTO1	6	74183257	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	37233823	74183257	96931810	140	25714										
MYO6	4646	genome.wustl.edu	37	chr6	76596683	76596683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gatcaagaatctggaaatttCtattgatactttgatggcca	8	6	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:76596683C>G	ENST00000369977.3	+	25	2769	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	MYO6_ENST00000369985.4_Missense_Mutation_p.S877C|MYO6_ENST00000369981.3_Missense_Mutation_p.S877C|MYO6_ENST00000369975.1_Missense_Mutation_p.S877C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	877					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTGGAAATTTCTATTGATACT	0.299																																																	0													71	75	74					6																	76596683		2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2630C>G	6.37:g.76596683C>G	ENSP00000358994:p.Ser877Cys		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.S877C	ENST00000369977.3	37	c.2630	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002235	0.35320	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;T;T	0.89485	-2.5;-2.52;1.48;1.9	5.64	5.64	0.86602	.	0.107745	0.64402	D	0.000005	D	0.86585	0.5968	L	0.46157	1.445	0.58432	D	0.999999	B;P	0.51791	0.02;0.948	B;P	0.47376	0.005;0.545	D	0.86550	0.1834	10	0.46703	T	0.11	.	19.7048	0.96068	0.0:1.0:0.0:0.0	.	877;877	Q9UM54-2;Q9UM54-1	.;.	C	877	ENSP00000358998:S877C;ENSP00000359002:S877C;ENSP00000358994:S877C;ENSP00000358992:S877C	ENSP00000358992:S877C	S	+	2	0	MYO6	76653403	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	7.378000	0.79679	2.627000	0.88993	0.655000	0.94253	TCT	MYO6	-	NULL		0.299	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	C	NM_004999		76596683	1	no_errors	ENST00000369981	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76596683	C	G	76596683	3	3	152	1	0	0	0	0	1	0	0	0	10104	913	32	1	2724	1	MYO6	6	76596683	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2413426	76596683	94518384	141	25715										
DOPEY1	23033	genome.wustl.edu	37	chr6	83846971	83846971	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaaatagagaactttagtctCactgtgaatccattaagtga	8	6	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:83846971C>T	ENST00000349129.2	+	21	3470	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	DOPEY1_ENST00000369739.3_Silent_p.L1061L|DOPEY1_ENST00000237163.5_Silent_p.L1051L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1070					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTTTAGTCTCACTGTGAATC	0.393																																																	0													88	85	86					6																	83846971		2203	4299	6502	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3210C>T	6.37:g.83846971C>T			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.L1070	ENST00000349129.2	37	c.3210	CCDS4996.1	6																																																																																			DOPEY1	-	superfamily_ARM-type_fold		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83846971	1	no_errors	ENST00000349129	ensembl	human	known	70_37	silent	SNP	0.861	T	T	83846971	C	T	83846971	2	4	152	1	0	0	0	0	0	0	0	1	4717	813	29	1		1	DOPEY1	6	83846971	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	7250288	83846971	87268096	142	25716										
ZNF292	23036	genome.wustl.edu	37	chr6	87966072	87966072	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aagaccagatttctgcctctGagctcaggcaagctaatgga	10	10	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:87966072G>C	ENST00000369577.3	+	8	2768	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E904Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	909						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTCTGCCTCTGAGCTCAGGCA	0.423																																																	0													73	69	71					6																	87966072		1924	4127	6051	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2725G>C	6.37:g.87966072G>C	ENSP00000358590:p.Glu909Gln		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E909Q	ENST00000369577.3	37	c.2725	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	4.609	0.113244	0.08831	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07327	3.2;3.21	5.77	4.89	0.63831	.	0.751962	0.13465	N	0.385839	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	B	0.27068	0.167	B	0.28011	0.085	T	0.42498	-0.9448	10	0.27785	T	0.31	.	10.9329	0.47228	0.1413:0.0:0.8587:0.0	.	909	O60281	ZN292_HUMAN	Q	909;904	ENSP00000358590:E909Q;ENSP00000342847:E904Q	ENSP00000342847:E904Q	E	+	1	0	ZNF292	88022791	0.003000	0.15002	0.924000	0.36721	0.884000	0.51177	1.188000	0.32102	2.729000	0.93468	0.591000	0.81541	GAG	ZNF292	-	NULL		0.423	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87966072	1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	0.012	C	C	87966072	G	C	87966072	3	2	152	1	0	0	0	0	1	0	0	0	17856	1291	45	1	2755	1	ZNF292	6	87966072	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4119101	87966072	83148995	143	25717										
ZNF292	23036	genome.wustl.edu	37	chr6	87966431	87966431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaaagacaagtgaacaacttGatgaccttttctgtgcaaaa	8	7	1	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:87966431G>C	ENST00000369577.3	+	8	3127	c.3084G>C	c.(3082-3084)ttG>ttC	p.L1028F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1023F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1028						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGAACAACTTGATGACCTTTT	0.328																																																	0													60	57	58					6																	87966431		1839	4084	5923	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3084G>C	6.37:g.87966431G>C	ENSP00000358590:p.Leu1028Phe		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1028F	ENST00000369577.3	37	c.3084	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887366	0.52014	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.11712	2.75;2.76	5.55	2.53	0.30540	.	0.559497	0.18587	N	0.136821	T	0.06645	0.0170	L	0.46157	1.445	0.34535	D	0.709657	D	0.57899	0.981	P	0.52758	0.708	T	0.20472	-1.0274	10	0.72032	D	0.01	.	2.9466	0.05848	0.2949:0.0:0.3773:0.3279	.	1028	O60281	ZN292_HUMAN	F	1028;1023	ENSP00000358590:L1028F;ENSP00000342847:L1023F	ENSP00000342847:L1023F	L	+	3	2	ZNF292	88023150	0.821000	0.29204	0.992000	0.48379	0.987000	0.75469	-0.029000	0.12329	0.611000	0.30052	0.591000	0.81541	TTG	ZNF292	-	NULL		0.328	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87966431	1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	0.991	C	C	87966431	G	C	87966431	3	2	152	1	0	0	0	0	1	0	0	0	17856	1281	45	1	3114	1	ZNF292	6	87966431	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	359	87966431	83148636	144	25718										
C6orf167	253714	genome.wustl.edu	37	chr6	97702483	97702483	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttgtaaaatgatgctacatGagtaataatccaccaactaa	5	8	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:97702483G>A	ENST00000275053.4	-	10	1334	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	MMS22L_ENST00000369251.2_Missense_Mutation_p.H357Y	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	357					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.H357Y(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATGCTACATGAGTAATAATC	0.338																																																	1	Substitution - Missense(1)	large_intestine(1)											118	119	119					6																	97702483		2203	4300	6503	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1069C>T	6.37:g.97702483G>A	ENSP00000275053:p.His357Tyr		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H357Y	ENST00000275053.4	37	c.1069	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124581	0.77436	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.74258	2.255	0.52501	D	0.999951	D;D	0.61697	0.99;0.99	P;P	0.60609	0.877;0.877	T	0.56721	-0.7932	10	0.87932	D	0	-5.3487	16.6752	0.85277	0.0:0.0:1.0:0.0	.	357;357	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Y	357;357;245;49	ENSP00000275053:H357Y;ENSP00000358254:H357Y;ENSP00000427288:H245Y;ENSP00000421225:H49Y	ENSP00000275053:H357Y	H	-	1	0	MMS22L	97809204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.130000	0.64745	2.364000	0.80123	0.655000	0.94253	CAT	MMS22L	-	NULL		0.338	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	G	NM_198468		97702483	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	missense	SNP	1.000	A	A	97702483	G	A	97702483	3	1	152	1	0	0	0	0	1	0	0	0	2347	1290	45	1	2726	1	C6orf167	6	97702483	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9736052	97702483	73412584	145	25719										
LAMA2	3908	genome.wustl.edu	37	chr6	129612791	129612791	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgccggtggctctttctctGaggtttgccacagtcaaact	10	11	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:129612791G>A	ENST00000421865.2	+	20	2831	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	928	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCTTTCTCTGAGGTTTGCCA	0.453																																																	0													91	81	84					6																	129612791		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2782G>A	6.37:g.129612791G>A	ENSP00000400365:p.Glu928Lys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E928K	ENST00000421865.2	37	c.2782	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539427	0.45176	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61274	0.12	5.78	5.78	0.91487	EGF-like, laminin (3);	0.133771	0.49305	D	0.000152	T	0.40171	0.1106	L	0.48642	1.525	0.47659	D	0.999485	P;P	0.41131	0.739;0.571	B;B	0.42959	0.403;0.243	T	0.26538	-1.0100	10	0.10111	T	0.7	.	16.6056	0.84827	0.0:0.1299:0.8701:0.0	.	928;928	A6NF00;P24043	.;LAMA2_HUMAN	K	928	ENSP00000400365:E928K	ENSP00000346769:E928K	E	+	1	0	LAMA2	129654484	1.000000	0.71417	0.375000	0.26029	0.666000	0.39218	3.792000	0.55476	2.894000	0.99253	0.591000	0.81541	GAG	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129612791	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.878	A	A	129612791	G	A	129612791	3	1	152	1	0	0	0	0	1	0	0	0	8626	1291	45	1	2860	1	LAMA2	6	129612791	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	31910308	129612791	41502276	146	25720										
SLC2A12	154091	genome.wustl.edu	37	chr6	134350293	134350293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcttgtcctttcatcaccaGaaaccgagggcttggaggaa	10	11	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:134350293G>T	ENST00000275230.5	-	2	825	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	224					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTCATCACCAGAAACCGAGGG	0.453																																					Melanoma(122;1663 1672 14489 35294 41228)												0													74	77	76					6																	134350293		2203	4300	6503	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.670C>A	6.37:g.134350293G>T	ENSP00000275230:p.Leu224Met		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.L224M	ENST00000275230.5	37	c.670	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173494	0.57584	.	.	ENSG00000146411	ENST00000275230	T	0.80824	-1.42	5.4	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	D	0.89476	0.6726	M	0.90977	3.165	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	D	0.91727	0.5393	10	0.66056	D	0.02	-9.6921	14.2069	0.65739	0.0724:0.0:0.9276:0.0	.	224	Q8TD20	GTR12_HUMAN	M	224	ENSP00000275230:L224M	ENSP00000275230:L224M	L	-	1	2	SLC2A12	134391986	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.134000	0.64770	1.284000	0.44531	0.467000	0.42956	CTG	SLC2A12	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	G			134350293	-1	no_errors	ENST00000275230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134350293	G	T	134350293	3	4	152	1	0	0	0	0	1	0	0	0	14571	933	33	3	1199	3	SLC2A12	6	134350293	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4737502	134350293	36764774	147	25721										
HECA	51696	genome.wustl.edu	37	chr6	139487903	139487903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggaccggcagaactcccagGagaaggcagtgggtgccgca	16	11	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:139487903G>C	ENST00000367658.2	+	2	1039	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	252					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAACTCCCAGGAGAAGGCAGT	0.672																																																	0													15	18	17					6																	139487903		2199	4300	6499	SO:0001583	missense	51696			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.754G>C	6.37:g.139487903G>C	ENSP00000356630:p.Glu252Gln			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.E252Q	ENST00000367658.2	37	c.754	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325641	0.81580	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.58803	-0.7572	9	0.41790	T	0.15	.	18.7842	0.91947	0.0:0.0:1.0:0.0	.	252	Q9UBI9	HDC_HUMAN	Q	252	.	ENSP00000356630:E252Q	E	+	1	0	HECA	139529596	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.128000	0.94424	2.676000	0.91093	0.655000	0.94253	GAG	HECA	-	NULL		0.672	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	G	NM_016217		139487903	1	no_errors	ENST00000367658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139487903	G	C	139487903	3	2	152	1	0	0	0	0	1	0	0	0	7058	1175	41	1	760	1	HECA	6	139487903	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5137610	139487903	31627164	148	25722										
HIVEP2	3097	genome.wustl.edu	37	chr6	143091947	143091947	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttcttgaagaacctgctcaGagggcgtttcagttgactta	10	9	3	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:143091947G>C	ENST00000367604.1	-	4	4568	c.3929C>G	c.(3928-3930)tCt>tGt	p.S1310C	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1310C|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1310C			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AACCTGCTCAGAGGGCGTTTC	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													140	140	140					6																	143091947		1915	4126	6041	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3929C>G	6.37:g.143091947G>C	ENSP00000356576:p.Ser1310Cys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1310C	ENST00000367604.1	37	c.3929	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974334	0.34848	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02837	4.14;4.14;4.14	5.97	5.97	0.96955	.	0.449425	0.27730	N	0.018084	T	0.02418	0.0074	L	0.55481	1.735	0.29630	N	0.845554	P	0.50710	0.938	B	0.40101	0.319	T	0.41342	-0.9514	10	0.45353	T	0.12	-14.3537	20.428	0.99075	0.0:0.0:1.0:0.0	.	1310	P31629	ZEP2_HUMAN	C	1310	ENSP00000356576:S1310C;ENSP00000356575:S1310C;ENSP00000012134:S1310C	ENSP00000012134:S1310C	S	-	2	0	HIVEP2	143133640	0.998000	0.40836	0.791000	0.31998	0.582000	0.36321	2.899000	0.48679	2.837000	0.97791	0.655000	0.94253	TCT	HIVEP2	-	NULL		0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143091947	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	0.872	C	C	143091947	G	C	143091947	3	2	152	1	0	0	0	0	1	0	0	0	7207	942	33	1	3435	1	HIVEP2	6	143091947	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3604044	143091947	28023120	149	25723										
STX11	8676	genome.wustl.edu	37	chr6	144508280	144508280	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagatcatgggcaaggaagtCtcgggcgaccagatcgagga	16	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:144508280C>T	ENST00000367568.4	+	2	699	c.516C>T	c.(514-516)gtC>gtT	p.V172V		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	172					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCAAGGAAGTCTCGGGCGACC	0.622									Familial Hemophagocytic Lymphohistiocytosis																																								0													53	56	55					6																	144508280		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.516C>T	6.37:g.144508280C>T			E1P598|O75378|O95148|Q5TCL6	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.V172	ENST00000367568.4	37	c.516	CCDS5205.1	6																																																																																			STX11	-	superfamily_t-SNARE		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	C			144508280	1	no_errors	ENST00000367568	ensembl	human	known	70_37	silent	SNP	0.989	T	T	144508280	C	T	144508280	2	4	152	1	0	0	0	0	0	0	0	1	15367	900	32	1		1	STX11	6	144508280	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1416333	144508280	26606787	150	25724										
PLEKHG1	57480	genome.wustl.edu	37	chr6	151089860	151089860	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttggaaacatacaggatatCtaccacttcaataggtaagt	7	7	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:151089860C>T	ENST00000358517.2	+	3	709	c.498C>T	c.(496-498)atC>atT	p.I166I	PLEKHG1_ENST00000367328.1_Silent_p.I166I			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	166	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TACAGGATATCTACCACTTCA	0.383																																																	0													100	92	95					6																	151089860		2203	4300	6503	SO:0001819	synonymous_variant	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.498C>T	6.37:g.151089860C>T			Q5T1F2	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I166	ENST00000358517.2	37	c.498	CCDS34552.1	6																																																																																			PLEKHG1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.383	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	C			151089860	1	no_errors	ENST00000358517	ensembl	human	known	70_37	silent	SNP	1.000	T	T	151089860	C	T	151089860	2	4	152	1	0	0	0	0	0	0	0	1	12092	903	32	1		1	PLEKHG1	6	151089860	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	6581580	151089860	20025207	151	25725										
ZDHHC14	79683	genome.wustl.edu	37	chr6	157803287	157803287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctggtcactagcggactcttCttcgccttcgagtaagtggt	11	11	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:157803287C>G	ENST00000359775.5	+	1	1123	c.234C>G	c.(232-234)ttC>ttG	p.F78L	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.F78L			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	78					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCGGACTCTTCTTCGCCTTCG	0.607																																																	0													45	51	49					6																	157803287		2203	4296	6499	SO:0001583	missense	79683			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.234C>G	6.37:g.157803287C>G	ENSP00000352821:p.Phe78Leu		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.F78L	ENST00000359775.5	37	c.234	CCDS5252.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.536233	0.96460	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.54866	0.56;0.55	4.53	4.53	0.55603	.	0.000000	0.85682	U	0.000000	T	0.66277	0.2773	M	0.82923	2.615	0.80722	D	1	P;D	0.58268	0.751;0.982	P;P	0.60068	0.562;0.868	T	0.74677	-0.3585	10	0.72032	D	0.01	-13.0933	17.2836	0.87135	0.0:1.0:0.0:0.0	.	78;78	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	L	78;78;82	ENSP00000352821:F78L;ENSP00000410713:F78L	ENSP00000352821:F78L	F	+	3	2	ZDHHC14	157723275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.721000	0.61951	1.690000	0.51089	0.460000	0.39030	TTC	ZDHHC14	-	NULL		0.607	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC14	HGNC	protein_coding	OTTHUMT00000042841.2	C	NM_153746		157803287	1	no_errors	ENST00000359775	ensembl	human	known	70_37	missense	SNP	1.000	G	G	157803287	C	G	157803287	3	3	152	1	0	0	0	0	1	0	0	0	17634	912	32	1	236	1	ZDHHC14	6	157803287	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	6713427	157803287	13311780	152	25726										
MAS1	4142	genome.wustl.edu	37	chr6	160328744	160328744	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctttacctgctgtactatGagtattggtcgacctttggg	10	9	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr6:160328744G>A	ENST00000252660.4	+	1	771	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	253					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GCTGTACTATGAGTATTGGTC	0.458																																																	0													131	122	125					6																	160328744		2203	4300	6503	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.757G>A	6.37:g.160328744G>A	ENSP00000252660:p.Glu253Lys		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn	p.E253K	ENST00000252660.4	37	c.757	CCDS5272.1	6	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553587	0.27739	.	.	ENSG00000130368	ENST00000252660	T	0.36878	1.23	5.2	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.272836	0.26103	N	0.026338	T	0.12347	0.0300	N	0.22421	0.69	0.37751	D	0.925977	B	0.18968	0.032	B	0.20955	0.032	T	0.04976	-1.0914	10	0.28530	T	0.3	.	11.5879	0.50929	0.0:0.2755:0.7245:0.0	.	253	P04201	MAS_HUMAN	K	253	ENSP00000252660:E253K	ENSP00000252660:E253K	E	+	1	0	MAS1	160248734	0.873000	0.30073	0.986000	0.45419	0.648000	0.38561	1.522000	0.35921	2.407000	0.81776	0.655000	0.94253	GAG	MAS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas		0.458	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	G	NM_002377		160328744	1	no_errors	ENST00000252660	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160328744	G	A	160328744	3	1	152	1	0	0	0	0	1	0	0	0	9343	1291	45	1	759	1	MAS1	6	160328744	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2525457	160328744	10786323	153	25727										
MICALL2	79778	genome.wustl.edu	37	chr7	1474750	1474750	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagtcacccagcttctcaatCatgtcccgcagcatctgatc	6	16	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:1474750C>T	ENST00000297508.7	-	16	2800	c.2625G>A	c.(2623-2625)atG>atA	p.M875I	MICALL2_ENST00000405088.4_Missense_Mutation_p.M663I|MICALL2_ENST00000471899.1_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	875	Mediates interaction with RAB13 and is required for transition from the closed to the opened conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCTTCTCAATCATGTCCCGCA	0.652																																																	0													107	99	101					7																	1474750		2202	4299	6501	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2625G>A	7.37:g.1474750C>T	ENSP00000297508:p.Met875Ile		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.M875I	ENST00000297508.7	37	c.2625	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669877	0.29693	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.72835	2.2;-0.69	3.92	3.92	0.45320	.	0.366501	0.20114	N	0.098959	T	0.58793	0.2147	L	0.32530	0.975	0.47123	D	0.999321	P;P	0.43477	0.808;0.709	B;B	0.36719	0.231;0.133	T	0.66244	-0.5972	10	0.56958	D	0.05	.	14.7234	0.69326	0.0:1.0:0.0:0.0	.	875;663	Q8IY33;D3YTD2	MILK2_HUMAN;.	I	663;875	ENSP00000385928:M663I;ENSP00000297508:M875I	ENSP00000297508:M875I	M	-	3	0	MICALL2	1441276	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	3.216000	0.51176	2.025000	0.59659	0.555000	0.69702	ATG	MICALL2	-	NULL		0.652	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	C	NM_182924		1474750	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1474750	C	T	1474750	3	4	152	1	0	0	0	0	1	0	0	0	9597	826	29	1	97	1	MICALL2	7	1474750	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		1474750	157663913	154	25728										
IQCE	23288	genome.wustl.edu	37	chr7	2608599	2608599	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttctttcagaaagcaaaaagGaaagctttccacaaacctcc	5	11	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:2608599G>A	ENST00000402050.2	+	3	280	c.96G>A	c.(94-96)agG>agA	p.R32R	IQCE_ENST00000404984.1_Intron|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000438376.2_Silent_p.R16R	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	32						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAGCAAAAAGGAAAGCTTTCC	0.512																																																	0													78	78	78					7																	2608599		2014	4179	6193	SO:0001819	synonymous_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.96G>A	7.37:g.2608599G>A			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R32	ENST00000402050.2	37	c.96	CCDS43542.1	7																																																																																			IQCE	-	NULL		0.512	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	G	NM_152558		2608599	1	no_errors	ENST00000402050	ensembl	human	known	70_37	silent	SNP	0.311	A	A	2608599	G	A	2608599	2	1	152	1	0	0	0	0	0	0	0	1	7826	1165	41	1		1	IQCE	7	2608599	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1133849	2608599	156530064	155	25729										
ELMO1	9844	genome.wustl.edu	37	chr7	37311454	37311454	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tactggagatgtggttaatcGaaggatagtgccatttttta	11	4	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:37311454G>A	ENST00000310758.4	-	5	873	c.226C>T	c.(226-228)Cga>Tga	p.R76*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.R76*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.R76*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	76					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGGTTAATCGAAGGATAGTG	0.358																																																	0													142	145	144					7																	37311454		2203	4300	6503	SO:0001587	stop_gained	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.226C>T	7.37:g.37311454G>A	ENSP00000312185:p.Arg76*		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R76*	ENST00000310758.4	37	c.226	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.766743	0.98945	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6483	0.62294	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000312185:R76X	R	-	1	2	ELMO1	37277979	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.432000	0.52824	2.941000	0.99782	0.655000	0.94253	CGA	ELMO1	-	NULL		0.358	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	G	NM_130442		37311454	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	37311454	G	A	37311454	4	1	152	1	0	0	0	0	0	1	0	0	5077	1066	37	1	2029	1	ELMO1	7	37311454	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	34702855	37311454	121827209	156	25730										
NPC1L1	29881	genome.wustl.edu	37	chr7	44561742	44561742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gatggcattcatcccagcctCgctggagaagttgtagccca	11	12	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:44561742C>T	ENST00000289547.4	-	11	2792	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	NPC1L1_ENST00000546276.1_Missense_Mutation_p.E867K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.E913K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	913					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATCCCAGCCTCGCTGGAGAAG	0.542																																																	0													86	81	83					7																	44561742		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2737G>A	7.37:g.44561742C>T	ENSP00000289547:p.Glu913Lys		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E913K	ENST00000289547.4	37	c.2737	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	.	0.240	-1.014237	0.02095	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94046	-3.34;-3.34;-3.2	5.2	-2.28	0.06826	.	0.781728	0.12088	N	0.500653	D	0.84092	0.5396	L	0.42744	1.35	0.09310	N	1	B;B;B	0.27765	0.146;0.005;0.188	B;B;B	0.15870	0.011;0.005;0.014	T	0.70450	-0.4868	10	0.07175	T	0.84	-6.3521	4.6129	0.12411	0.2173:0.287:0.0:0.4957	.	867;913;913	B7ZLE6;Q17RV5;D3DVK9	.;.;.	K	913;913;867	ENSP00000289547:E913K;ENSP00000370552:E913K;ENSP00000438033:E867K	ENSP00000289547:E913K	E	-	1	0	NPC1L1	44528267	0.000000	0.05858	0.001000	0.08648	0.308000	0.27856	-0.568000	0.05909	-0.078000	0.12730	-0.215000	0.12644	GAG	NPC1L1	-	NULL		0.542	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	C	NM_013389		44561742	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	missense	SNP	0.001	T	T	44561742	C	T	44561742	3	4	152	1	0	0	0	0	1	0	0	0	10595	893	31	1	1382	1	NPC1L1	7	44561742	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	7250288	44561742	114576921	157	25731										
BAZ1B	9031	genome.wustl.edu	37	chr7	72922761	72922761	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gttatggtgaaccatttccaGaacaagcttctcataccagg	8	10	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:72922761G>A	ENST00000339594.4	-	3	603	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	RNU6-1198P_ENST00000516904.1_RNA|BAZ1B_ENST00000404251.1_Silent_p.L89L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	89	Mediates the tyrosine-protein kinase activity.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACCATTTCCAGAACAAGCTTC	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													157	137	143					7																	72922761		2203	4300	6503	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.265C>T	7.37:g.72922761G>A			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L89	ENST00000339594.4	37	c.265	CCDS5549.1	7																																																																																			BAZ1B	-	pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	G	NM_032408		72922761	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	silent	SNP	0.996	A	A	72922761	G	A	72922761	2	1	152	1	0	0	0	0	0	0	0	1	1331	933	33	1		1	BAZ1B	7	72922761	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	28361019	72922761	86215902	158	25732										
ANKIB1	54467	genome.wustl.edu	37	chr7	91936908	91936908	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagcagctattgatgctgttGataacaaaaaaaacacaccc	7	9	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:91936908G>A	ENST00000265742.3	+	3	800	c.424G>A	c.(424-426)Gat>Aat	p.D142N		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	142							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATGCTGTTGATAACAAAAA	0.368																																																	0													64	63	63					7																	91936908		1891	4115	6006	SO:0001583	missense	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.424G>A	7.37:g.91936908G>A	ENSP00000265742:p.Asp142Asn		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.D142N	ENST00000265742.3	37	c.424	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.311600	0.95655	.	.	ENSG00000001629	ENST00000265742	T	0.59502	0.26	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.50993	1.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.71656	0.974	T	0.72909	-0.4149	10	0.62326	D	0.03	.	19.8516	0.96743	0.0:0.0:1.0:0.0	.	142	Q9P2G1	AKIB1_HUMAN	N	142	ENSP00000265742:D142N	ENSP00000265742:D142N	D	+	1	0	ANKIB1	91774844	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.685000	0.91497	0.585000	0.79938	GAT	ANKIB1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	HGNC	protein_coding	OTTHUMT00000342018.1	G			91936908	1	no_errors	ENST00000265742	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91936908	G	A	91936908	3	1	152	1	0	0	0	0	1	0	0	0	630	1290	45	1	430	1	ANKIB1	7	91936908	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	19014147	91936908	67201755	159	25733										
TFPI2	7980	genome.wustl.edu	37	chr7	93519512	93519512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaaattgttggcgttgccctCgcagcccccgtacaggaact	11	13	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:93519512C>T	ENST00000222543.5	-	2	520	c.208G>A	c.(208-210)Gag>Aag	p.E70K	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Missense_Mutation_p.E70K|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	70	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCGTTGCCCTCGCAGCCCCCG	0.612																																																	0													36	39	38					7																	93519512		2203	4300	6503	SO:0001583	missense	7980			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.208G>A	7.37:g.93519512C>T	ENSP00000222543:p.Glu70Lys		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E70K	ENST00000222543.5	37	c.208	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	C	9.794	1.178662	0.21787	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.56776	0.44;0.44	5.07	-4.44	0.03557	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.247540	0.04985	N	0.466269	T	0.23492	0.0568	L	0.29908	0.895	0.20873	N	0.999834	P;B;P;B	0.43314	0.694;0.005;0.803;0.005	B;B;B;B	0.26770	0.073;0.009;0.064;0.009	T	0.29305	-1.0016	10	0.05833	T	0.94	.	3.3856	0.07270	0.2546:0.2497:0.3719:0.1238	.	41;59;70;70	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	K	70	ENSP00000222543:E70K;ENSP00000438861:E70K	ENSP00000222543:E70K	E	-	1	0	TFPI2	93357448	0.001000	0.12720	0.127000	0.21898	0.640000	0.38277	-0.769000	0.04710	-0.886000	0.03966	0.313000	0.20887	GAG	TFPI2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m		0.612	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	C	NM_006528		93519512	-1	no_errors	ENST00000222543	ensembl	human	known	70_37	missense	SNP	0.089	T	T	93519512	C	T	93519512	3	4	152	1	0	0	0	0	1	0	0	0	15839	893	31	1	515	1	TFPI2	7	93519512	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1582604	93519512	65619151	160	25734										
C7orf59	389541	genome.wustl.edu	37	chr7	99747121	99747121	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acttgcatctttacccactaGacttctgcgctgacccaggg	8	14	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:99747121G>A	ENST00000341942.5	+	2	69		c.e2-1		LAMTOR4_ENST00000441173.1_Splice_Site|LAMTOR4_ENST00000468582.1_Splice_Site	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4						cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											TTACCCACTAGACTTCTGCGC	0.587																																																	0													174	170	171					7																	99747121		2203	4300	6503	SO:0001630	splice_region_variant	389541				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 59"	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.4-1G>A	7.37:g.99747121G>A				Splice_Site	SNP	-	e2-1	ENST00000341942.5	37	c.4-1	CCDS34702.1	7	.	.	.	.	.	.	.	.	.	.	.	23.1	4.371870	0.82573	.	.	ENSG00000188186	ENST00000341942;ENST00000441173	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8574	0.70347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf59	99585057	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.847000	0.69451	2.579000	0.87056	0.540000	0.68198	.	LAMTOR4	-	-		0.587	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR4	HGNC	protein_coding	OTTHUMT00000337373.2	G	NM_001008395	Intron	99747121	1	no_errors	ENST00000341942	ensembl	human	known	70_37	splice_site	SNP	0.998	A	A	99747121	G	A	99747121	5	1	152	1	0	0	0	0	0	0	1	0	2411	956	33	1	9	1	C7orf59	7	99747121	Splice_Site	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	6227609	99747121	59391542	161	25735										
DNAJC2	27000	genome.wustl.edu	37	chr7	102956536	102956536	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aattagcaataacttcccatCtgataggatatattatacaa	4	7	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:102956536C>T	ENST00000379263.3	-	14	1678		c.e14-1		DNAJC2_ENST00000249270.7_Splice_Site|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2						'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.?(2)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AACTTCCCATCTGATAGGATA	0.308																																																	2	Unknown(2)	lung(2)											54	49	51					7																	102956536		1803	4068	5871	SO:0001630	splice_region_variant	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1428-1G>A	7.37:g.102956536C>T			A4VCI0|Q9BVX1	Splice_Site	SNP	-	e14-1	ENST00000379263.3	37	c.1428-1	CCDS43628.1	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493480	0.84962	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2266	0.98341	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC2	102743772	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.452000	0.80683	2.769000	0.95229	0.655000	0.94253	.	DNAJC2	-	-		0.308	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	C		Intron	102956536	-1	no_errors	ENST00000379263	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	102956536	C	T	102956536	5	4	152	1	0	0	0	0	0	0	1	0	4649	927	32	1	454	1	DNAJC2	7	102956536	Splice_Site	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3209415	102956536	56182127	162	25736										
SRPK2	6733	genome.wustl.edu	37	chr7	104809665	104809665	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tccaagctttctaataacatGataccggccattgaagaggt	8	9	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:104809665G>A	ENST00000393651.3	-	4	364	c.277C>T	c.(277-279)Cat>Tat	p.H93Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.H82Y|SRPK2_ENST00000357311.3_Missense_Mutation_p.H82Y	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CTAATAACATGATACCGGCCA	0.378																																																	0													129	117	121					7																	104809665		2203	4300	6503	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.277C>T	7.37:g.104809665G>A	ENSP00000377262:p.His93Tyr			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.H93Y	ENST00000393651.3	37	c.277	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993989	0.54041	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.28694	0.88	0.80722	D	1	D;D	0.62365	0.991;0.982	D;D	0.70716	0.965;0.97	T	0.06625	-1.0816	10	0.52906	T	0.07	-18.6729	19.6378	0.95744	0.0:0.0:1.0:0.0	.	93;82	P78362-2;P78362	.;SRPK2_HUMAN	Y	93;82;82;130;82	ENSP00000377262:H93Y;ENSP00000349863:H82Y;ENSP00000419791:H82Y;ENSP00000419240:H130Y;ENSP00000417357:H82Y	ENSP00000349863:H82Y	H	-	1	0	SRPK2	104596901	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.781000	0.99029	2.631000	0.89168	0.655000	0.94253	CAT	SRPK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	G	NM_182691		104809665	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104809665	G	A	104809665	3	1	152	1	0	0	0	0	1	0	0	0	15190	1290	45	1	1874	1	SRPK2	7	104809665	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1853129	104809665	54328998	163	25737										
ASB15	142685	genome.wustl.edu	37	chr7	123256536	123256536	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccattcaacaaatacttgaGattgttctggatggtaagag	9	7	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:123256536G>A	ENST00000451558.1	+	8	800	c.279G>A	c.(277-279)gaG>gaA	p.E93E	RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Silent_p.E93E|ASB15_ENST00000451215.1_Silent_p.E93E|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Silent_p.E93E|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Silent_p.E93E			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	93					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAATACTTGAGATTGTTCTGG	0.343																																																	0													69	64	65					7																	123256536		2203	4300	6503	SO:0001819	synonymous_variant	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.279G>A	7.37:g.123256536G>A			Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E93	ENST00000451558.1	37	c.279	CCDS34742.1	7																																																																																			ASB15	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.343	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	G			123256536	1	no_errors	ENST00000275699	ensembl	human	known	70_37	silent	SNP	0.990	A	A	123256536	G	A	123256536	2	1	152	1	0	0	0	0	0	0	0	1	1020	933	33	1		1	ASB15	7	123256536	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	18446871	123256536	35882127	164	25738										
CLCN1	1180	genome.wustl.edu	37	chr7	143018499	143018499	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agatgcagcccagccttcctCtgcagttcctggtctgggtc	11	14	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:143018499C>A	ENST00000343257.2	+	4	562	c.475C>A	c.(475-477)Ctg>Atg	p.L159M		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	159					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAGCCTTCCTCTGCAGTTCCT	0.602																																																	0													291	213	239					7																	143018499		2203	4300	6503	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.475C>A	7.37:g.143018499C>A	ENSP00000339867:p.Leu159Met		A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.L159M	ENST00000343257.2	37	c.475	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	.	14.98	2.696156	0.48202	.	.	ENSG00000188037	ENST00000343257	D	0.94000	-3.33	5.03	5.03	0.67393	Chloride channel, core (2);	0.154793	0.43919	D	0.000502	D	0.92195	0.7525	M	0.83223	2.63	0.38598	D	0.950599	P	0.36647	0.563	B	0.34722	0.188	D	0.92294	0.5844	10	0.48119	T	0.1	.	9.5739	0.39445	0.1425:0.7807:0.0:0.0768	.	159	P35523	CLCN1_HUMAN	M	159	ENSP00000339867:L159M	ENSP00000339867:L159M	L	+	1	2	CLCN1	142728621	0.844000	0.29557	1.000000	0.80357	0.927000	0.56198	1.722000	0.38042	2.353000	0.79882	0.555000	0.69702	CTG	CLCN1	-	superfamily_Cl-channel_core		0.602	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	C	NM_000083		143018499	1	no_errors	ENST00000343257	ensembl	human	known	70_37	missense	SNP	0.979	A	A	143018499	C	A	143018499	3	1	152	1	0	0	0	0	1	0	0	0	3467	912	32	3	489	3	CLCN1	7	143018499	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	19761963	143018499	16120164	165	25739										
ARHGEF5	7984	genome.wustl.edu	37	chr7	144060152	144060152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctctgggcctgccccattcaGagtgagcatctagacatggc	11	13	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:144060152G>C	ENST00000056217.5	+	2	564	c.390G>C	c.(388-390)caG>caC	p.Q130H		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	130					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCCCCATTCAGAGTGAGCATC	0.562																																																	0													4	5	5					7																	144060152		1002	2210	3212	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.390G>C	7.37:g.144060152G>C	ENSP00000056217:p.Gln130His		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.Q130H	ENST00000056217.5	37	c.390	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118618	0.37436	.	.	ENSG00000050327	ENST00000056217	T	0.75589	-0.95	3.99	2.12	0.27331	.	0.312090	0.17786	U	0.162049	T	0.66307	0.2776	L	0.52573	1.65	0.09310	N	0.999999	P	0.44578	0.838	B	0.43990	0.438	T	0.56432	-0.7980	9	.	.	.	.	4.7528	0.13068	0.114:0.0:0.6748:0.2112	.	130	Q12774	ARHG5_HUMAN	H	130	ENSP00000056217:Q130H	.	Q	+	3	2	ARHGEF5	143691085	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.187000	0.16998	0.337000	0.23665	-0.157000	0.13467	CAG	ARHGEF5	-	NULL		0.562	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	G	NM_005435		144060152	1	no_errors	ENST00000056217	ensembl	human	known	70_37	missense	SNP	0.002	C	C	144060152	G	C	144060152	3	2	152	1	0	0	0	0	1	0	0	0	909	933	33	1	392	1	ARHGEF5	7	144060152	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1041653	144060152	15078511	166	25740										
ZNF467	168544	genome.wustl.edu	37	chr7	149461892	149461892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cggggccgcgtgggcggcttCgccgtgaatgagctggtgcc	19	12	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr7:149461892C>T	ENST00000302017.3	-	5	2112	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGCGGCTTCGCCGTGAATG	0.716																																																	0													17	20	19					7																	149461892		2090	4233	6323	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1699G>A	7.37:g.149461892C>T	ENSP00000304769:p.Glu567Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E567K	ENST00000302017.3	37	c.1699	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068820	0.20147	.	.	ENSG00000181444	ENST00000302017	T	0.07688	3.17	3.97	3.06	0.35304	.	0.648009	0.11830	U	0.525272	T	0.06325	0.0163	N	0.24115	0.695	0.09310	N	1	B	0.32731	0.382	B	0.23018	0.043	T	0.30031	-0.9992	10	0.66056	D	0.02	0.0406	12.1134	0.53852	0.0:0.8251:0.1749:0.0	.	567	Q7Z7K2	ZN467_HUMAN	K	567	ENSP00000304769:E567K	ENSP00000304769:E567K	E	-	1	0	ZNF467	149092825	0.000000	0.05858	0.015000	0.15790	0.064000	0.16182	0.952000	0.29149	0.860000	0.35481	0.462000	0.41574	GAA	ZNF467	-	NULL		0.716	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	C	NM_207336		149461892	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.021	T	T	149461892	C	T	149461892	3	4	152	1	0	0	0	0	1	0	0	0	17957	893	31	1	92	1	ZNF467	7	149461892	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5401740	149461892	9676771	167	25741										
CSMD1	64478	genome.wustl.edu	37	chr8	3889497	3889497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acgatgcaggtcaggatggcGtggccttccaagatgtagcc	14	10	1	1	rs368684088		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:3889497G>A	ENST00000520002.1	-	4	1095	c.540C>T	c.(538-540)caC>caT	p.H180H	CSMD1_ENST00000537824.1_Silent_p.H180H|CSMD1_ENST00000602723.1_Silent_p.H180H|CSMD1_ENST00000400186.3_Silent_p.H180H|CSMD1_ENST00000542608.1_Silent_p.H180H|CSMD1_ENST00000539096.1_Silent_p.H180H|CSMD1_ENST00000602557.1_Silent_p.H180H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	180	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H180H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAGGATGGCGTGGCCTTCCA	0.542																																																	1	Substitution - coding silent(1)	prostate(1)						G		0,4236		0,0,2118	109	119	116		540	-4.2	0.3	8		116	1,8499		0,1,4249	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6367	AA,AG,GG		0.0118,0.0,0.0079		180/3565	3889497	1,12735	2118	4250	6368	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.540C>T	8.37:g.3889497G>A			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H180	ENST00000520002.1	37	c.540		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3889497	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	silent	SNP	0.406	A	A	3889497	G	A	3889497	2	1	152	1	0	0	0	0	0	0	0	1	3949	1136	40	2		2	CSMD1	8	3889497	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		3889497	142474525	168	25742										
LONRF1	91694	genome.wustl.edu	37	chr8	12594230	12594230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcatgcagagagaacactcGaaatctgagacatcgattaa	8	9	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:12594230G>T	ENST00000398246.3	-	6	1500	c.1431C>A	c.(1429-1431)ttC>ttA	p.F477L	LONRF1_ENST00000533751.1_Missense_Mutation_p.F120L|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	477							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.F477F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GAGAACACTCGAAATCTGAGA	0.313																																																	1	Substitution - coding silent(1)	large_intestine(1)											75	70	71					8																	12594230		1819	4071	5890	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1431C>A	8.37:g.12594230G>T	ENSP00000381298:p.Phe477Leu		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.F477L	ENST00000398246.3	37	c.1431	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014166	0.19277	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	T;T;T	0.16196	2.36;2.36;2.36	4.98	2.53	0.30540	Zinc finger, RING/FYVE/PHD-type (1);	0.105811	0.64402	D	0.000009	T	0.07413	0.0187	N	0.01817	-0.705	0.80722	D	1	B;B	0.26577	0.126;0.153	B;B	0.36766	0.148;0.232	T	0.34254	-0.9836	10	0.18710	T	0.47	-21.4805	9.4726	0.38851	0.847:0.0:0.153:0.0	.	466;477	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	L	477;120;80	ENSP00000381298:F477L;ENSP00000432130:F120L;ENSP00000433327:F80L	ENSP00000381298:F477L	F	-	3	2	LONRF1	12638601	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.111000	0.31159	0.407000	0.25591	-0.312000	0.09012	TTC	LONRF1	-	NULL		0.313	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	G	NM_152271		12594230	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12594230	G	T	12594230	3	4	152	1	0	0	0	0	1	0	0	0	8917	1049	37	3	918	3	LONRF1	8	12594230	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	8704733	12594230	133769792	169	25743										
SLC18A1	6570	genome.wustl.edu	37	chr8	20004823	20004823	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tagtagcagagtggagcataGacgatgttgatgaccccagt	13	7	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:20004823G>A	ENST00000276373.5	-	15	1676	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	SLC18A1_ENST00000519026.1_Silent_p.V438V|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000440926.1_Silent_p.V470V|SLC18A1_ENST00000265808.7_Silent_p.V438V|SLC18A1_ENST00000381608.4_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	470					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GTGGAGCATAGACGATGTTGA	0.507																																																	0													94	80	85					8																	20004823		2203	4300	6503	SO:0001819	synonymous_variant	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1410C>T	8.37:g.20004823G>A			E9PDJ5|Q9BRE4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.V470	ENST00000276373.5	37	c.1410	CCDS6013.1	8																																																																																			SLC18A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.507	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	G			20004823	-1	no_errors	ENST00000276373	ensembl	human	known	70_37	silent	SNP	0.130	A	A	20004823	G	A	20004823	2	1	152	1	0	0	0	0	0	0	0	1	14455	929	33	1		1	SLC18A1	8	20004823	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7410593	20004823	126359199	170	25744										
FAM160B2	64760	genome.wustl.edu	37	chr8	21957333	21957333	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgggcacagaccggcagcctGaagcccccggggacaacccc	13	17	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:21957333G>A	ENST00000289921.7	+	10	1316	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	424										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCGGCAGCCTGAAGCCCCCGG	0.652																																																	0													34	40	38					8																	21957333		1993	4156	6149	SO:0001583	missense	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1270G>A	8.37:g.21957333G>A	ENSP00000289921:p.Glu424Lys		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E424K	ENST00000289921.7	37	c.1270	CCDS6021.2	8	.	.	.	.	.	.	.	.	.	.	.	20.4	3.977589	0.74360	.	.	ENSG00000158863	ENST00000289921	T	0.32753	1.44	5.64	4.77	0.60923	.	0.337478	0.28921	N	0.013719	T	0.47544	0.1451	M	0.61703	1.905	0.40911	D	0.984238	D	0.56287	0.975	P	0.59643	0.861	T	0.51228	-0.8732	10	0.72032	D	0.01	-2.3094	12.0307	0.53396	0.083:0.0:0.917:0.0	.	424	Q86V87	F16B2_HUMAN	K	424	ENSP00000289921:E424K	ENSP00000289921:E424K	E	+	1	0	FAM160B2	22013278	1.000000	0.71417	0.004000	0.12327	0.146000	0.21551	6.218000	0.72224	1.392000	0.46585	0.655000	0.94253	GAA	FAM160B2	-	pfam_RetinoicA-induced_16-like		0.652	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	G			21957333	1	no_errors	ENST00000289921	ensembl	human	known	70_37	missense	SNP	0.926	A	A	21957333	G	A	21957333	3	1	152	1	0	0	0	0	1	0	0	0	5486	1291	45	1	1107	1	FAM160B2	8	21957333	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1952510	21957333	124406689	171	25745										
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37729590	37729590	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctctccctccatcctaaaGagtggagtgtctttcgctga	8	13	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:37729590G>C	ENST00000330843.4	-	4	2742	c.2730C>G	c.(2728-2730)ctC>ctG	p.L910L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	910					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCATCCTAAAGAGTGGAGTGT	0.557																																																	0													76	73	74					8																	37729590		2203	4300	6503	SO:0001819	synonymous_variant	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2730C>G	8.37:g.37729590G>C			J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L910	ENST00000330843.4	37	c.2730	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	G	NM_025151		37729590	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	silent	SNP	0.000	C	C	37729590	G	C	37729590	2	2	152	1	0	0	0	0	0	0	0	1	12923	929	33	1		1	RAB11FIP1	8	37729590	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	15772257	37729590	108634432	172	25746										
PXDNL	137902	genome.wustl.edu	37	chr8	52321474	52321474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagagcctgggattcccgctCcgagctcccgtaaacgttgg	13	13	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:52321474C>T	ENST00000356297.4	-	17	2810	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E904K	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	904					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GATTCCCGCTCCGAGCTCCCG	0.592																																																	0													39	44	42					8																	52321474		1986	4151	6137	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2710G>A	8.37:g.52321474C>T	ENSP00000348645:p.Glu904Lys		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.E904K	ENST00000356297.4	37	c.2710	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729466	0.15507	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.70399	-0.48;-0.48	4.03	3.1	0.35709	.	0.373843	0.22372	N	0.060930	T	0.59238	0.2179	L	0.43598	1.365	0.27373	N	0.955632	B	0.32382	0.368	B	0.32211	0.142	T	0.47381	-0.9122	10	0.25106	T	0.35	.	10.2879	0.43577	0.1993:0.8006:0.0:0.0	.	904	A1KZ92	PXDNL_HUMAN	K	904	ENSP00000348645:E904K;ENSP00000444865:E904K	ENSP00000348645:E904K	E	-	1	0	PXDNL	52484027	0.915000	0.31059	0.002000	0.10522	0.132000	0.20833	2.639000	0.46570	0.607000	0.29982	0.561000	0.74099	GAG	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	C	NM_144651		52321474	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	missense	SNP	0.683	T	T	52321474	C	T	52321474	3	4	152	1	0	0	0	0	1	0	0	0	12878	864	30	1	1709	1	PXDNL	8	52321474	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	14591884	52321474	94042548	173	25747										
MRPL15	29088	genome.wustl.edu	37	chr8	55060161	55060161	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	actcttcaaaatgctctgtaCtaggaaggatccaaggcaga	9	9	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:55060161C>G	ENST00000260102.4	+	5	847	c.773C>G	c.(772-774)aCt>aGt	p.T258S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	258					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ATGCTCTGTACTAGGAAGGAT	0.413																																																	0													76	76	76					8																	55060161		2203	4300	6503	SO:0001583	missense	29088			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.773C>G	8.37:g.55060161C>G	ENSP00000260102:p.Thr258Ser		Q96Q54|Q9H0Y1	Missense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.T258S	ENST00000260102.4	37	c.773	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241133	0.05906	.	.	ENSG00000137547	ENST00000260102	T	0.61510	0.1	5.33	5.33	0.75918	.	0.504438	0.25302	N	0.031656	T	0.44052	0.1275	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14559	-1.0468	10	0.10377	T	0.69	-35.547	15.4085	0.74900	0.0:0.8608:0.1392:0.0	.	258	Q9P015	RM15_HUMAN	S	258	ENSP00000260102:T258S	ENSP00000260102:T258S	T	+	2	0	MRPL15	55222714	0.099000	0.21834	0.354000	0.25760	0.750000	0.42670	1.724000	0.38064	2.484000	0.83849	0.650000	0.86243	ACT	MRPL15	-	NULL		0.413	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1	C	NM_014175		55060161	1	no_errors	ENST00000260102	ensembl	human	known	70_37	missense	SNP	0.102	G	G	55060161	C	G	55060161	3	3	152	1	0	0	0	0	1	0	0	0	9803	565	20	4	791	4	MRPL15	8	55060161	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2738687	55060161	91303861	174	25748										
SOX17	64321	genome.wustl.edu	37	chr8	55371672	55371673	+	In_Frame_Ins	INS	-	-	AGA													0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cggcccttcgtggaggaggcINSagagcggctgcgcgtgcagc							TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:55371672_55371673insAGA	ENST00000297316.4	+	2	566_567	c.362_363insAGA	c.(361-366)gcagag>gcAGAagag	p.122_123insE		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	122					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GTGGAGGAGGCAGAGCGGCTGC	0.683																																																	0																																										SO:0001652	inframe_insertion	64321			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.363_365dupAGA	8.37:g.55371673_55371675dupAGA	ENSP00000297316:p.Glu122_Glu122dup			In_Frame_Ins	INS	pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.123in_frame_insE	ENST00000297316.4	37	c.362_363	CCDS6159.1	8																																																																																			SOX17	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.683	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	-			55371673	1	no_errors	ENST00000297316	ensembl	human	known	70_37	in_frame_ins	INS	1.000:0.996	AGA	AGA	55371673	-	AGA	55371672	7	5	152	1	0	1	1	0	0	0	0	0	14977	710	25	0	368	0	SOX17	8	55371672	In_Frame_Ins	INS	-	TCGA-IR-A3LI-01A-11D-A20U-09	311511	55371672	90992350	175	25749										
DNAJC5B	85479	genome.wustl.edu	37	chr8	66989059	66989059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctacgtggccgagcagtttgGagacgaaaacgttaacacct	11	10	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:66989059G>A	ENST00000276570.5	+	4	571	c.284G>A	c.(283-285)gGa>gAa	p.G95E	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	95						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAGCAGTTTGGAGACGAAAAC	0.443																																																	0													168	135	146					8																	66989059		2203	4300	6503	SO:0001583	missense	85479			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.284G>A	8.37:g.66989059G>A	ENSP00000276570:p.Gly95Glu		Q969Y8	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.G95E	ENST00000276570.5	37	c.284	CCDS6183.1	8	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636424	0.87760	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.74632	-0.86;-0.11	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90877	0.4750	10	0.87932	D	0	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	95	Q9UF47	DNJ5B_HUMAN	E	95	ENSP00000276570:G95E;ENSP00000430196:G95E	ENSP00000276570:G95E	G	+	2	0	DNAJC5B	67151613	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	GGA	DNAJC5B	-	prints_Hsp_DnaJ		0.443	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	HGNC	protein_coding	OTTHUMT00000378915.1	G	NM_033105		66989059	1	no_errors	ENST00000276570	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66989059	G	A	66989059	3	1	152	1	0	0	0	0	1	0	0	0	4661	1174	41	1	290	1	DNAJC5B	8	66989059	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	11617387	66989059	79374963	176	25750										
CSPP1	79848	genome.wustl.edu	37	chr8	68062107	68062107	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ataaaagggctgttgtatctCtagacccaaatttagccact	7	9	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:68062107C>T	ENST00000262210.5	+	16	2081	c.2050C>T	c.(2050-2052)Cta>Tta	p.L684L	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	719					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTGTATCTCTAGACCCAAA	0.333																																																	0													206	205	205					8																	68062107		1860	4089	5949	SO:0001819	synonymous_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2050C>T	8.37:g.68062107C>T			A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.L684	ENST00000262210.5	37	c.2050	CCDS43744.1	8																																																																																			CSPP1	-	NULL		0.333	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	C	NM_024790		68062107	1	no_errors	ENST00000262210	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68062107	C	T	68062107	2	4	152	1	0	0	0	0	0	0	0	1	3967	912	32	1		1	CSPP1	8	68062107	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1073048	68062107	78301915	177	25751										
SLC25A32	81034	genome.wustl.edu	37	chr8	104413815	104413815	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctgaagacgagctcttacGacttgatatgggtatgttgc	11	8	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:104413815G>A	ENST00000297578.4	-	6	907	c.741C>T	c.(739-741)gtC>gtT	p.V247V	SLC25A32_ENST00000543107.1_Silent_p.V115V|SLC25A32_ENST00000523701.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	247					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GAGCTCTTACGACTTGATATG	0.378																																																	0													157	143	148					8																	104413815		2203	4300	6503	SO:0001819	synonymous_variant	81034			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.741C>T	8.37:g.104413815G>A			Q96JZ6|Q96SU7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.V247	ENST00000297578.4	37	c.741	CCDS6300.1	8																																																																																			SLC25A32	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.378	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	HGNC	protein_coding	OTTHUMT00000380290.2	G	NM_030780		104413815	-1	no_errors	ENST00000297578	ensembl	human	known	70_37	silent	SNP	0.989	A	A	104413815	G	A	104413815	2	1	152	1	0	0	0	0	0	0	0	1	14526	1045	37	1		1	SLC25A32	8	104413815	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	36351708	104413815	41950207	178	25752										
CSMD3	114788	genome.wustl.edu	37	chr8	114031408	114031408	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtatattcattccagataaCctgaattacaaaagacaaca	5	8	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:114031408C>T	ENST00000297405.5	-	6	1162	c.918G>A	c.(916-918)tgG>tgA	p.W306*	CSMD3_ENST00000352409.3_Splice_Site_p.W306*|CSMD3_ENST00000343508.3_Splice_Site_p.W266*|CSMD3_ENST00000455883.2_Splice_Site_p.W306*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	306	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCAGATAACCTGAATTACA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													150	139	143					8																	114031408		2203	4300	6503	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.918-1G>A	8.37:g.114031408C>T			Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.W306*	ENST00000297405.5	37	c.918	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.879227	0.97055	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	15.9288	0.79644	0.1355:0.8645:0.0:0.0	.	.	.	.	X	266;306;306;306	.	ENSP00000297405:W306X	W	-	3	0	CSMD3	114100584	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.769000	0.68865	2.639000	0.89480	0.460000	0.39030	TGG	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900	Nonsense_Mutation	114031408	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	114031408	C	T	114031408	5	4	152	1	0	0	0	0	0	0	1	0	3951	521	18	4	10469	4	CSMD3	8	114031408	Splice_Site	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9617593	114031408	32332614	179	25753										
ADCY8	114	genome.wustl.edu	37	chr8	131826399	131826399	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgttctcattgtgttccctCagctccttcatctcattgat	5	12	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:131826399C>G	ENST00000286355.5	-	14	4921	c.2829G>C	c.(2827-2829)ctG>ctC	p.L943L	ADCY8_ENST00000377928.3_Silent_p.L812L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	943					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTGTTCCCTCAGCTCCTTCA	0.537										HNSCC(32;0.087)																																							0													245	184	205					8																	131826399		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2829G>C	8.37:g.131826399C>G				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L943	ENST00000286355.5	37	c.2829	CCDS6363.1	8																																																																																			ADCY8	-	smart_A/G_cyclase		0.537	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131826399	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	G	G	131826399	C	G	131826399	2	3	152	1	0	0	0	0	0	0	0	1	300	813	29	1		1	ADCY8	8	131826399	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	17794991	131826399	14537623	180	25754										
ST3GAL1	6482	genome.wustl.edu	37	chr8	134488145	134488145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcggagagctccaggaccatCtgcttggggaaccaggtggt	15	10	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:134488145C>T	ENST00000319914.5	-	4	1150	c.123G>A	c.(121-123)caG>caA	p.Q41Q	ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000399640.2_Silent_p.Q41Q|ST3GAL1_ENST00000521180.1_Silent_p.Q41Q|ST3GAL1_ENST00000522652.1_Silent_p.Q41Q			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	41					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCAGGACCATCTGCTTGGGGA	0.587																																																	0													102	85	91					8																	134488145		2203	4300	6503	SO:0001819	synonymous_variant	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.123G>A	8.37:g.134488145C>T			O60677|Q9UN51	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q41	ENST00000319914.5	37	c.123	CCDS6373.1	8																																																																																			ST3GAL1	-	pirsf_Sialyl_trans		0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	C	NM_003033		134488145	-1	no_errors	ENST00000319914	ensembl	human	known	70_37	silent	SNP	0.681	T	T	134488145	C	T	134488145	2	4	152	1	0	0	0	0	0	0	0	1	15244	912	32	1		1	ST3GAL1	8	134488145	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2661746	134488145	11875877	181	25755										
ZC3H3	23144	genome.wustl.edu	37	chr8	144623587	144623587	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gccgtaatatctccttttccTccatctcccgagtccgcgac	6	17	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:144623587T>A	ENST00000262577.5	-	1	36	c.5A>T	c.(4-6)gAg>gTg	p.E2V	7SK_ENST00000517300.1_RNA|RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	2					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTCCTTTTCCTCCATCTCCCG	0.716																																																	0													39	45	43					8																	144623587		2203	4297	6500	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.5A>T	8.37:g.144623587T>A	ENSP00000262577:p.Glu2Val		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E2V	ENST00000262577.5	37	c.5	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	T	27.0	4.787416	0.90367	.	.	ENSG00000014164	ENST00000262577	T	0.04083	3.71	3.65	3.65	0.41850	.	0.000000	0.52532	D	0.000064	T	0.11110	0.0271	L	0.46157	1.445	0.42390	D	0.992525	D	0.58268	0.982	P	0.56700	0.804	T	0.02498	-1.1150	10	0.66056	D	0.02	-28.0714	11.8971	0.52661	0.0:0.0:0.0:1.0	.	2	Q8IXZ2	ZC3H3_HUMAN	V	2	ENSP00000262577:E2V	ENSP00000262577:E2V	E	-	2	0	ZC3H3	144694730	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.708000	0.37899	1.647000	0.50633	0.413000	0.27773	GAG	ZC3H3	-	NULL		0.716	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	T	NM_015117		144623587	-1	no_errors	ENST00000262577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144623587	T	A	144623587	3	1	152	1	0	0	0	0	1	0	0	0	17599	1551	54	5	2889	5	ZC3H3	8	144623587	Missense_Mutation	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	10135442	144623587	1740435	182	25756										
MAPK15	225689	genome.wustl.edu	37	chr8	144803953	144803953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgggaggggagctgcgccctCcctgacctcccaggctgcgg	16	16	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:144803953C>A	ENST00000338033.4	+	13	1480	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	454					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGCGCCCTCCCTGACCTCC	0.687																																																	0													40	50	47					8																	144803953		2009	4147	6156	SO:0001583	missense	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1361C>A	8.37:g.144803953C>A	ENSP00000337691:p.Ser454Tyr		Q2TCF9|Q8N362	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.S454Y	ENST00000338033.4	37	c.1361	CCDS6409.2	8	.	.	.	.	.	.	.	.	.	.	c	13.89	2.373449	0.42105	.	.	ENSG00000181085	ENST00000338033	T	0.75260	-0.92	3.23	3.23	0.37069	.	0.063724	0.64402	U	0.000004	T	0.76198	0.3954	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.73855	-0.3851	10	0.32370	T	0.25	.	11.9211	0.52793	0.0:1.0:0.0:0.0	.	454	Q8TD08	MK15_HUMAN	Y	454	ENSP00000337691:S454Y	ENSP00000337691:S454Y	S	+	2	0	MAPK15	144875941	0.046000	0.20272	0.445000	0.26908	0.037000	0.13140	3.732000	0.55021	1.634000	0.50500	0.306000	0.20318	TCC	MAPK15	-	NULL		0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	C	NM_139021		144803953	1	no_errors	ENST00000338033	ensembl	human	known	70_37	missense	SNP	0.902	A	A	144803953	C	A	144803953	3	1	152	1	0	0	0	0	1	0	0	0	9300	855	30	3	1411	3	MAPK15	8	144803953	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	180366	144803953	1560069	183	25757										
ADCK5	203054	genome.wustl.edu	37	chr8	145616340	145616340	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acctgtccttccaggtggatGagttgttccttgaggacttc	11	10	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:145616340G>A	ENST00000308860.6	+	6	594	c.550G>A	c.(550-552)Gag>Aag	p.E184K	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	184	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCAGGTGGATGAGTTGTTCCT	0.642																																																	0													53	53	53					8																	145616340		2203	4300	6503	SO:0001583	missense	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.550G>A	8.37:g.145616340G>A	ENSP00000310547:p.Glu184Lys		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E184K	ENST00000308860.6	37	c.550	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087121	0.20390	.	.	ENSG00000173137	ENST00000308860	T	0.74002	-0.8	5.04	2.13	0.27403	Protein kinase-like domain (1);	0.319525	0.30011	N	0.010631	T	0.51924	0.1703	N	0.12502	0.225	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.37865	-0.9687	10	0.07030	T	0.85	-16.7704	12.8604	0.57910	0.0:0.4814:0.5186:0.0	.	184	Q3MIX3	ADCK5_HUMAN	K	184	ENSP00000310547:E184K	ENSP00000310547:E184K	E	+	1	0	ADCK5	145587148	1.000000	0.71417	0.750000	0.31169	0.809000	0.45718	4.068000	0.57534	0.122000	0.18314	0.462000	0.41574	GAG	ADCK5	-	superfamily_Kinase-like_dom		0.642	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	G	NM_174922		145616340	1	no_errors	ENST00000308860	ensembl	human	known	70_37	missense	SNP	0.987	A	A	145616340	G	A	145616340	3	1	152	1	0	0	0	0	1	0	0	0	291	1291	45	1	572	1	ADCK5	8	145616340	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	812387	145616340	747682	184	25758										
LRRC24	441381	genome.wustl.edu	37	chr8	145747964	145747964	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tccgccggaccctcggcgaaGagcggcttggagcggttgat	16	12	0	2	rs377306762		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr8:145747964G>C	ENST00000529415.2	-	5	1554	c.1437C>G	c.(1435-1437)ctC>ctG	p.L479L	LRRC24_ENST00000533758.1_Silent_p.L476L|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	479						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCGGCGAAGAGCGGCTTGG	0.701																																																	0													7	9	8					8																	145747964		2099	4150	6249	SO:0001819	synonymous_variant	441381			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1437C>G	8.37:g.145747964G>C				Silent	SNP	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L479	ENST00000529415.2	37	c.1437	CCDS34969.1	8																																																																																			LRRC24	-	NULL		0.701	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2	G	NM_001024678		145747964	-1	no_errors	ENST00000529415	ensembl	human	known	70_37	silent	SNP	0.474	C	C	145747964	G	C	145747964	2	2	152	1	0	0	0	0	0	0	0	1	9002	929	33	1		1	LRRC24	8	145747964	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	131624	145747964	616058	185	25759										
TAF1L	138474	genome.wustl.edu	37	chr9	32631089	32631089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttctctttaagtttttcatCacagagatccagcatggatt	6	8	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:32631089C>T	ENST00000242310.4	-	1	4578	c.4489G>A	c.(4489-4491)Gat>Aat	p.D1497N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1497					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTTTTCATCACAGAGATCC	0.408																																																	0													185	173	177					9																	32631089		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4489G>A	9.37:g.32631089C>T	ENSP00000418379:p.Asp1497Asn		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D1497N	ENST00000242310.4	37	c.4489	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637167	0.47049	.	.	ENSG00000122728	ENST00000242310	T	0.18016	2.24	0.489	0.489	0.16854	Bromodomain (3);	0.098105	0.64402	D	0.000002	T	0.08670	0.0215	N	0.22421	0.69	0.37761	D	0.926339	B	0.15930	0.015	B	0.15052	0.012	T	0.25984	-1.0116	10	0.16420	T	0.52	.	6.7111	0.23278	0.0:0.9999:0.0:1.0E-4	.	1497	Q8IZX4	TAF1L_HUMAN	N	1497	ENSP00000418379:D1497N	ENSP00000418379:D1497N	D	-	1	0	TAF1L	32621089	1.000000	0.71417	0.993000	0.49108	0.433000	0.31745	4.506000	0.60428	0.514000	0.28300	0.205000	0.17691	GAT	TAF1L	-	pirsf_TAF1_animal,superfamily_Bromodomain,smart_Bromodomain		0.408	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32631089	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32631089	C	T	32631089	3	4	152	1	0	0	0	0	1	0	0	0	15553	826	29	1	995	1	TAF1L	9	32631089	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		32631089	108582342	186	25760										
TAF1L	138474	genome.wustl.edu	37	chr9	32631755	32631755	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagttttaggtcaggacgctCtttcattttcttgggcttct	9	9	5	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:32631755C>G	ENST00000242310.4	-	1	3912	c.3823G>C	c.(3823-3825)Gag>Cag	p.E1275Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1275					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCAGGACGCTCTTTCATTTTC	0.483																																																	0													115	113	114					9																	32631755		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3823G>C	9.37:g.32631755C>G	ENSP00000418379:p.Glu1275Gln		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E1275Q	ENST00000242310.4	37	c.3823	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327843	0.41197	.	.	ENSG00000122728	ENST00000242310	T	0.09163	3.01	1.56	1.56	0.23342	.	0.096378	0.64402	D	0.000001	T	0.05777	0.0151	N	0.19112	0.55	0.45403	D	0.998383	B	0.25955	0.138	B	0.24269	0.052	T	0.39542	-0.9609	10	0.14252	T	0.57	.	8.618	0.33845	0.0:1.0:0.0:0.0	.	1275	Q8IZX4	TAF1L_HUMAN	Q	1275	ENSP00000418379:E1275Q	ENSP00000418379:E1275Q	E	-	1	0	TAF1L	32621755	1.000000	0.71417	0.530000	0.27963	0.410000	0.31052	5.096000	0.64535	0.507000	0.28148	0.195000	0.17529	GAG	TAF1L	-	pirsf_TAF1_animal		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32631755	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32631755	C	G	32631755	3	3	152	1	0	0	0	0	1	0	0	0	15553	922	32	1	1661	1	TAF1L	9	32631755	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	666	32631755	108581676	187	25761										
TAF1L	138474	genome.wustl.edu	37	chr9	32634881	32634881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggcatcatgctgcataatccCagccaatggaagggtcagct	11	11	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:32634881C>T	ENST00000242310.4	-	1	786	c.697G>A	c.(697-699)Ggg>Agg	p.G233R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	233					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCATAATCCCAGCCAATGGA	0.463																																																	0													137	125	129					9																	32634881		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.697G>A	9.37:g.32634881C>T	ENSP00000418379:p.Gly233Arg		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.G233R	ENST00000242310.4	37	c.697	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305016	0.23736	.	.	ENSG00000122728	ENST00000242310	T	0.08370	3.1	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	M	0.67953	2.075	0.50467	D	0.999872	P	0.37824	0.609	B	0.34590	0.186	T	0.17531	-1.0366	10	0.38643	T	0.18	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	233	Q8IZX4	TAF1L_HUMAN	R	233	ENSP00000418379:G233R	ENSP00000418379:G233R	G	-	1	0	TAF1L	32624881	1.000000	0.71417	0.455000	0.27031	0.134000	0.20937	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	GGG	TAF1L	-	pirsf_TAF1_animal		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32634881	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32634881	C	T	32634881	3	4	152	1	0	0	0	0	1	0	0	0	15553	594	21	4	4787	4	TAF1L	9	32634881	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3126	32634881	108578550	188	25762										
C9orf102	375748	genome.wustl.edu	37	chr9	98643489	98643489	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atttgagagactaccaaagaGaaggaacccggtttctttat	9	7	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:98643489G>A	ENST00000288985.7	+	2	723	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	140					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CTACCAAAGAGAAGGAACCCG	0.383																																																	0													72	73	73					9																	98643489		2203	4300	6503	SO:0001583	missense	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.418G>A	9.37:g.98643489G>A	ENSP00000288985:p.Glu140Lys		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E140K	ENST00000288985.7	37	c.418	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526354	0.85600	.	.	ENSG00000182150	ENST00000288985	D	0.93426	-3.22	5.32	3.44	0.39384	DEAD-like helicase (1);SNF2-related (1);	0.210116	0.31279	N	0.007928	D	0.95004	0.8383	L	0.58925	1.835	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.94788	0.7959	10	0.59425	D	0.04	-18.7524	12.1215	0.53893	0.1422:0.0:0.8578:0.0	.	140	Q5T890	RAD26_HUMAN	K	140	ENSP00000288985:E140K	ENSP00000288985:E140K	E	+	1	0	C9orf102	97683310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.222000	0.58580	1.462000	0.47948	0.591000	0.81541	GAA	ERCC6L2	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd		0.383	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98643489	1	no_errors	ENST00000288985	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	98643489	G	A	98643489	3	1	152	1	0	0	0	0	1	0	0	0	2450	943	33	1	424	1	C9orf102	9	98643489	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	66008608	98643489	42569942	189	25763										
TMOD1	7111	genome.wustl.edu	37	chr9	100326399	100326399	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtagaggaaacgctggaacgGataaagaacaacgacccaaa	11	8	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:100326399G>C	ENST00000259365.4	+	6	780	c.567G>C	c.(565-567)cgG>cgC	p.R189R	TMOD1_ENST00000375175.1_Silent_p.R62R|TMOD1_ENST00000395211.2_Silent_p.R189R	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	189					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CGCTGGAACGGATAAAGAACA	0.468																																																	0													119	96	104					9																	100326399		2203	4300	6503	SO:0001819	synonymous_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.567G>C	9.37:g.100326399G>C			B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	pfam_Tropomodulin	p.R189	ENST00000259365.4	37	c.567	CCDS6726.1	9																																																																																			TMOD1	-	NULL		0.468	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	G	NM_003275		100326399	1	no_errors	ENST00000259365	ensembl	human	known	70_37	silent	SNP	0.985	C	C	100326399	G	C	100326399	2	2	152	1	0	0	0	0	0	0	0	1	16263	1161	41	1		1	TMOD1	9	100326399	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1682910	100326399	40887032	190	25764										
C9orf125	84302	genome.wustl.edu	37	chr9	104238925	104238925	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aacttggcatcaaaatggctCacactacgctccacgttgca	7	13	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:104238925C>T	ENST00000374851.1	-	4	1597	c.450G>A	c.(448-450)gtG>gtA	p.V150V	TMEM246_ENST00000374847.1_Silent_p.V150V|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Silent_p.V150V			Q9BRR3	TM246_HUMAN	transmembrane protein 246	150						integral component of membrane (GO:0016021)											CAAAATGGCTCACACTACGCT	0.552																																																	0													102	88	93					9																	104238925		2203	4300	6503	SO:0001819	synonymous_variant	84302			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.450G>A	9.37:g.104238925C>T			Q49AQ4	Silent	SNP	NULL	p.V150	ENST00000374851.1	37	c.450	CCDS6757.1	9																																																																																			TMEM246	-	NULL		0.552	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	C	NM_032342		104238925	-1	no_errors	ENST00000374847	ensembl	human	known	70_37	silent	SNP	0.992	T	T	104238925	C	T	104238925	2	4	152	1	0	0	0	0	0	0	0	1	2459	813	29	1		1	C9orf125	9	104238925	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3912526	104238925	36974506	191	25765										
OR13C9	286362	genome.wustl.edu	37	chr9	107379792	107379792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaaagctttgcttctcccctCagaggagtgaatcttgagga	11	9	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:107379792C>G	ENST00000259362.1	-	1	693	c.694G>C	c.(694-696)Gag>Cag	p.E232Q		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTTCTCCCCTCAGAGGAGTGA	0.428																																																	0													77	75	75					9																	107379792		2202	4300	6502	SO:0001583	missense	286362				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.694G>C	9.37:g.107379792C>G	ENSP00000259362:p.Glu232Gln		Q6IFL2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E232Q	ENST00000259362.1	37	c.694	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602652	0.28534	.	.	ENSG00000136839	ENST00000259362	T	0.00076	8.76	4.46	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.00210	0.0006	L	0.60012	1.86	0.09310	N	1	B	0.29552	0.248	B	0.37731	0.257	T	0.13308	-1.0514	10	0.52906	T	0.07	.	6.9863	0.24731	0.0:0.7974:0.0:0.2026	.	232	Q8NGT0	O13C9_HUMAN	Q	232	ENSP00000259362:E232Q	ENSP00000259362:E232Q	E	-	1	0	OR13C9	106419613	0.050000	0.20438	0.995000	0.50966	0.972000	0.66771	0.732000	0.26072	1.077000	0.40990	-0.135000	0.14842	GAG	OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	C			107379792	-1	no_errors	ENST00000259362	ensembl	human	known	70_37	missense	SNP	0.248	G	G	107379792	C	G	107379792	3	3	152	1	0	0	0	0	1	0	0	0	10963	835	29	1	265	1	OR13C9	9	107379792	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3140867	107379792	33833639	192	25766										
ABCA1	19	genome.wustl.edu	37	chr9	107583755	107583755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccaggatgtaggcggtgcccGaggtcggggggaacaacccg	18	11	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:107583755G>A	ENST00000374736.3	-	20	3255	c.2861C>T	c.(2860-2862)tCg>tTg	p.S954L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	954	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGCGGTGCCCGAGGTCGGGGG	0.527																																																	0													57	52	54					9																	107583755		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2861C>T	9.37:g.107583755G>A	ENSP00000363868:p.Ser954Leu		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S954L	ENST00000374736.3	37	c.2861	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.659012	0.96734	.	.	ENSG00000165029	ENST00000374736	D	0.94280	-3.39	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.056408	0.64402	D	0.000001	D	0.96935	0.8999	M	0.89534	3.04	0.80722	D	1	D	0.55605	0.972	P	0.57371	0.819	D	0.97237	0.9888	10	0.72032	D	0.01	.	19.8306	0.96634	0.0:0.0:1.0:0.0	.	954	O95477	ABCA1_HUMAN	L	954	ENSP00000363868:S954L	ENSP00000363868:S954L	S	-	2	0	ABCA1	106623576	1.000000	0.71417	0.992000	0.48379	0.764000	0.43329	7.904000	0.87408	2.682000	0.91365	0.563000	0.77884	TCG	ABCA1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107583755	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107583755	G	A	107583755	3	1	152	1	0	0	0	0	1	0	0	0	28	1059	37	1	4048	1	ABCA1	9	107583755	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	203963	107583755	33629676	193	25767										
ZNF462	58499	genome.wustl.edu	37	chr9	109691272	109691272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgagcccagccagaaggcaaGaacaacctcttcaagtgtgc	10	13	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:109691272G>A	ENST00000277225.5	+	3	5368	c.5079G>A	c.(5077-5079)aaG>aaA	p.K1693K	ZNF462_ENST00000457913.1_Silent_p.K1693K|ZNF462_ENST00000441147.2_Silent_p.K538K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1693					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGAAGGCAAGAACAACCTCT	0.562																																																	0													120	104	109					9																	109691272		2203	4300	6503	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5079G>A	9.37:g.109691272G>A			Q5T0T4|Q8N408	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1693	ENST00000277225.5	37	c.5079	CCDS35096.1	9																																																																																			ZNF462	-	NULL		0.562	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	G	NM_021224		109691272	1	no_errors	ENST00000457913	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109691272	G	A	109691272	2	1	152	1	0	0	0	0	0	0	0	1	17956	933	33	1		1	ZNF462	9	109691272	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2107517	109691272	31522159	194	25768										
UGCG	7357	genome.wustl.edu	37	chr9	114676973	114676973	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgaaaccactgaaaggggtaGatcctaacttaatcaacaac	7	9	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:114676973G>T	ENST00000374279.3	+	2	637	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	63					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GAAAGGGGTAGATCCTAACTT	0.378																																																	0													111	111	111					9																	114676973		2203	4300	6503	SO:0001583	missense	7357			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.187G>T	9.37:g.114676973G>T	ENSP00000363397:p.Asp63Tyr		Q5T258	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.D63Y	ENST00000374279.3	37	c.187	CCDS6782.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091120	0.76756	.	.	ENSG00000148154	ENST00000374279	T	0.60040	0.22	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83914	0.0297	10	0.87932	D	0	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	63	Q16739	CEGT_HUMAN	Y	63	ENSP00000363397:D63Y	ENSP00000363397:D63Y	D	+	1	0	UGCG	113716794	1.000000	0.71417	0.694000	0.30210	0.426000	0.31534	9.476000	0.97823	2.778000	0.95560	0.655000	0.94253	GAT	UGCG	-	NULL		0.378	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCG	HGNC	protein_coding	OTTHUMT00000053661.1	G	NM_003358		114676973	1	no_errors	ENST00000374279	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114676973	G	T	114676973	3	4	152	1	0	0	0	0	1	0	0	0	16970	942	33	3	193	3	UGCG	9	114676973	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4985701	114676973	26536458	195	25769										
AKNA	80709	genome.wustl.edu	37	chr9	117119145	117119145	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggcgggatcccgggatacctGatgtgggagagccggtgctc	18	10	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:117119145G>A	ENST00000307564.4	-	13	3005	c.2844C>T	c.(2842-2844)atC>atT	p.I948I	AKNA_ENST00000374075.5_Silent_p.I867I|AKNA_ENST00000223791.3_Silent_p.I408I|AKNA_ENST00000374088.3_Silent_p.I948I	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	948					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGGATACCTGATGTGGGAGA	0.587																																																	0													145	131	136					9																	117119145		2203	4300	6503	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2844C>T	9.37:g.117119145G>A			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	pfam_TF_AT-hook	p.I948	ENST00000307564.4	37	c.2844	CCDS6805.1	9																																																																																			AKNA	-	NULL		0.587	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	G	NM_030767		117119145	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	silent	SNP	0.993	A	A	117119145	G	A	117119145	2	1	152	1	0	0	0	0	0	0	0	1	463	1280	45	1		1	AKNA	9	117119145	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2442172	117119145	24094286	196	25770										
ENTPD8	377841	genome.wustl.edu	37	chr9	140330468	140330468	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcagtgtaggtgctcacataGaactggccccgcagcggggg	16	11	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:140330468G>A	ENST00000472938.1	-	6	1063	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	ENTPD8_ENST00000344119.2_Silent_p.F349F|ENTPD8_ENST00000371506.2_Silent_p.F349F			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	349					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCTCACATAGAACTGGCCCC	0.662																																																	0													25	29	28					9																	140330468		2199	4299	6498	SO:0001819	synonymous_variant	377841			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1047C>T	9.37:g.140330468G>A			A2BG17|Q6UVZ0	Silent	SNP	pfam_GDA1_CD39_NTPase	p.F349	ENST00000472938.1	37	c.1047	CCDS43913.1	9																																																																																			ENTPD8	-	pfam_GDA1_CD39_NTPase		0.662	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	HGNC	protein_coding	OTTHUMT00000355991.1	G	NM_198585		140330468	-1	no_errors	ENST00000371506	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140330468	G	A	140330468	2	1	152	1	0	0	0	0	0	0	0	1	5157	933	33	1		1	ENTPD8	9	140330468	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	23211323	140330468	882963	197	25771										
ENTPD8	377841	genome.wustl.edu	37	chr9	140330988	140330988	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgacctgtaccagccccacGaggagcctgctcagcatctg	10	16	2	1	rs539989401		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr9:140330988G>A	ENST00000472938.1	-	5	787	c.771C>T	c.(769-771)ctC>ctT	p.L257L	ENTPD8_ENST00000344119.2_Silent_p.L257L|ENTPD8_ENST00000371506.2_Silent_p.L257L			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	257					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCAGCCCCACGAGGAGCCTGC	0.652													g|||	1	0.000199681	0	0	5008	,	,		15825	0		0	False		,,,				2504	0.001																0													27	26	26					9																	140330988		2194	4294	6488	SO:0001819	synonymous_variant	377841			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.771C>T	9.37:g.140330988G>A			A2BG17|Q6UVZ0	Silent	SNP	pfam_GDA1_CD39_NTPase	p.L257	ENST00000472938.1	37	c.771	CCDS43913.1	9																																																																																			ENTPD8	-	pfam_GDA1_CD39_NTPase		0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	HGNC	protein_coding	OTTHUMT00000355991.1	G	NM_198585		140330988	-1	no_errors	ENST00000371506	ensembl	human	known	70_37	silent	SNP	0.475	A	A	140330988	G	A	140330988	2	1	152	1	0	0	0	0	0	0	0	1	5157	1045	37	1		1	ENTPD8	9	140330988	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	520	140330988	882443	198	25772										
LARP4B	23185	genome.wustl.edu	37	chr10	876851	876851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaatgtaataaaccaattatCattatatgcaaattcacagt	3	6	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:876851C>T	ENST00000316157.3	-	8	857	c.817G>A	c.(817-819)Gat>Aat	p.D273N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	273	RRM.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AACCAATTATCATTATATGCA	0.299																																																	0													99	108	105					10																	876851		2201	4297	6498	SO:0001583	missense	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.817G>A	10.37:g.876851C>T	ENSP00000326128:p.Asp273Asn		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.D273N	ENST00000316157.3	37	c.817	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087990	0.55968	.	.	ENSG00000107929	ENST00000316157	T	0.35048	1.33	4.94	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.04994	-0.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10497	-1.0627	10	0.05436	T	0.98	-2.5957	18.5277	0.90978	0.0:1.0:0.0:0.0	.	273	Q92615	LAR4B_HUMAN	N	273	ENSP00000326128:D273N	ENSP00000326128:D273N	D	-	1	0	LARP4B	866851	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.820000	0.62671	2.451000	0.82905	0.563000	0.77884	GAT	LARP4B	-	NULL		0.299	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	C	NM_015155		876851	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	876851	C	T	876851	3	4	152	1	0	0	0	0	1	0	0	0	8651	826	29	1	1439	1	LARP4B	10	876851	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		876851	134657896	199	25773										
UPF2	26019	genome.wustl.edu	37	chr10	11997477	11997477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aagaacttggcactgctgatGcgcctctgattaaatttagg	10	8	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:11997477G>A	ENST00000356352.2	-	13	3077	c.2604C>T	c.(2602-2604)cgC>cgT	p.R868R	UPF2_ENST00000397053.2_Silent_p.R868R|UPF2_ENST00000357604.5_Silent_p.R868R			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	868	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CACTGCTGATGCGCCTCTGAT	0.353																																																	0													62	61	61					10																	11997477		2203	4300	6503	SO:0001819	synonymous_variant	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2604C>T	10.37:g.11997477G>A			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R868	ENST00000356352.2	37	c.2604	CCDS7086.1	10																																																																																			UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	G			11997477	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	silent	SNP	1.000	A	A	11997477	G	A	11997477	2	1	152	1	0	0	0	0	0	0	0	1	17035	1306	46	4		4	UPF2	10	11997477	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	11120626	11997477	123537270	200	25774										
PRPF18	8559	genome.wustl.edu	37	chr10	13658486	13658486	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tatccatgccagaactggcaGagaaaagattttttccaagc	8	9	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:13658486G>A	ENST00000378572.3	+	9	1041	c.881G>A	c.(880-882)aGa>aAa	p.R294K		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	294					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGAACTGGCAGAGAAAAGATT	0.453																																																	0													126	119	121					10																	13658486		2203	4300	6503	SO:0001583	missense	8559			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.881G>A	10.37:g.13658486G>A	ENSP00000367835:p.Arg294Lys		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.R294K	ENST00000378572.3	37	c.881	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.121619	0.94385	.	.	ENSG00000165630	ENST00000378572	.	.	.	5.34	5.34	0.76211	Prp18 (3);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	M	0.94142	3.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.70487	0.969	D	0.90673	0.4599	8	.	.	.	-15.7045	19.0325	0.92963	0.0:0.0:1.0:0.0	.	294	Q99633	PRP18_HUMAN	K	294	.	.	R	+	2	0	PRPF18	13698492	1.000000	0.71417	0.652000	0.29579	0.920000	0.55202	9.843000	0.99491	2.488000	0.83962	0.650000	0.86243	AGA	PRPF18	-	pfam_Prp18,superfamily_Prp18		0.453	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	G			13658486	1	no_errors	ENST00000378572	ensembl	human	known	70_37	missense	SNP	0.711	A	A	13658486	G	A	13658486	3	1	152	1	0	0	0	0	1	0	0	0	12590	942	33	1	915	1	PRPF18	10	13658486	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1661009	13658486	121876261	201	25775										
BMI1	648	genome.wustl.edu	37	chr10	22618337	22618337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtactccagtgcagtctcctCatccacagtttcctcacatt	5	15	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:22618337C>T	ENST00000376663.3	+	10	1352	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	RP11-573G6.9_ENST00000606988.1_lincRNA|COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.H426Y	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	283	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GCAGTCTCCTCATCCACAGTT	0.507																																																	0													166	151	156					10																	22618337		2203	4300	6503	SO:0001583	missense	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.847C>T	10.37:g.22618337C>T	ENSP00000365851:p.His283Tyr		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H283Y	ENST00000376663.3	37	c.847	CCDS7138.1	10	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516466	0.44763	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	T	0.31510	1.49	5.58	5.58	0.84498	.	0.203825	0.51477	D	0.000084	T	0.23886	0.0578	L	0.27053	0.805	0.47778	D	0.999517	P;P	0.39282	0.666;0.666	B;B	0.32022	0.139;0.139	T	0.04255	-1.0965	10	0.54805	T	0.06	-13.609	19.1861	0.93644	0.0:1.0:0.0:0.0	.	283;283	Q5U0M5;P35226	.;BMI1_HUMAN	Y	195;283	ENSP00000365851:H283Y	ENSP00000365851:H283Y	H	+	1	0	BMI1	22658343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.638000	0.89438	0.650000	0.86243	CAT	BMI1	-	NULL		0.507	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	C	NM_005180		22618337	1	no_errors	ENST00000376663	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22618337	C	T	22618337	3	4	152	1	0	0	0	0	1	0	0	0	1456	826	29	1	881	1	BMI1	10	22618337	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8959851	22618337	112916410	202	25776										
CCDC7	79741	genome.wustl.edu	37	chr10	32807383	32807383	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtgattttcagttgttatcaGaagagaagttggtgctggaa	13	3	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:32807383G>T	ENST00000362006.5	+	12	1486	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	CCDC7_ENST00000277657.6_Nonsense_Mutation_p.E315*	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	315										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTTGTTATCAGAAGAGAAGTT	0.308																																																	0													82	90	87					10																	32807383		2202	4300	6502	SO:0001587	stop_gained	79741			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.943G>T	10.37:g.32807383G>T	ENSP00000355078:p.Glu315*		Q5VW55|Q8IVQ0|Q8NEQ0	Nonsense_Mutation	SNP	NULL	p.E315*	ENST00000362006.5	37	c.943	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079783	0.55753	.	.	ENSG00000216937	ENST00000277657;ENST00000362006	.	.	.	4.67	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.38659	D	0.952036	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-1.558	6.5435	0.22392	0.1008:0.1827:0.7165:0.0	.	.	.	.	X	315	.	ENSP00000277657:E315X	E	+	1	0	CCDC7	32847389	0.955000	0.32602	0.180000	0.23079	0.018000	0.09664	1.109000	0.31135	0.449000	0.26747	-0.140000	0.14226	GAA	CCDC7	-	NULL		0.308	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	G	NM_145023		32807383	1	no_errors	ENST00000277657	ensembl	human	known	70_37	nonsense	SNP	0.634	T	T	32807383	G	T	32807383	4	4	152	1	0	0	0	0	0	1	0	0	2847	943	33	3	985	3	CCDC7	10	32807383	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	10189046	32807383	102727364	203	25777										
ZNF32	7580	genome.wustl.edu	37	chr10	44139651	44139651	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccctggtgtggaaactcttCctgcactgggtacaggcata	11	12	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:44139651C>T	ENST00000395797.1	-	3	857	c.669G>A	c.(667-669)agG>agA	p.R223R	ZNF32_ENST00000374433.2_Silent_p.R223R|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GGAAACTCTTCCTGCACTGGG	0.498																																																	0													105	103	104					10																	44139651		2203	4300	6503	SO:0001819	synonymous_variant	7580			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.669G>A	10.37:g.44139651C>T			Q92951	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R223	ENST00000395797.1	37	c.669	CCDS7206.1	10																																																																																			ZNF32	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	HGNC	protein_coding	OTTHUMT00000047723.1	C	NM_006973		44139651	-1	no_errors	ENST00000374433	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44139651	C	T	44139651	2	4	152	1	0	0	0	0	0	0	0	1	17868	854	30	1		1	ZNF32	10	44139651	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	11332268	44139651	91395096	204	25778										
PCDH15	65217	genome.wustl.edu	37	chr10	55582734	55582734	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctatttggaactttcctcatCagcctcctgggtaagctgac	8	12	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:55582734C>T	ENST00000320301.6	-	33	5146	c.4752G>A	c.(4750-4752)ctG>ctA	p.L1584L	PCDH15_ENST00000395432.2_Silent_p.L1544L|PCDH15_ENST00000437009.1_Silent_p.L1515L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.L1581L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1561L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Silent_p.L1586L|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1584					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTTCCTCATCAGCCTCCTGG	0.463										HNSCC(58;0.16)																																							0													108	103	105					10																	55582734		2203	4299	6502	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4752G>A	10.37:g.55582734C>T			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1584	ENST00000320301.6	37	c.4752	CCDS7248.1	10																																																																																			PCDH15	-	NULL		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55582734	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55582734	C	T	55582734	2	4	152	1	0	0	0	0	0	0	0	1	11535	813	29	1		1	PCDH15	10	55582734	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	11443083	55582734	79952013	205	25779										
CCDC6	8030	genome.wustl.edu	37	chr10	61566793	61566793	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agcctcaagttctcttctctCatgtgacgttcctcctccag	6	15	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:61566793C>T	ENST00000263102.6	-	6	1122	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	297						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCTCTTCTCTCATGTGACGTT	0.448			T	RET	NSCLC																																			Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													125	108	113					10																	61566793		2203	4300	6503	SO:0001583	missense	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.891G>A	10.37:g.61566793C>T	ENSP00000263102:p.Met297Ile		Q15250|Q6GSG7	Missense_Mutation	SNP	pfam_DUF2046	p.M297I	ENST00000263102.6	37	c.891	CCDS7257.1	10	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839593	0.32513	.	.	ENSG00000108091	ENST00000263102	T	0.80123	-1.34	5.37	5.37	0.77165	.	0.104089	0.85682	D	0.000000	T	0.65123	0.2661	N	0.05441	-0.05	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.61113	-0.7128	10	0.11182	T	0.66	-19.0243	19.1868	0.93647	0.0:1.0:0.0:0.0	.	297	Q16204	CCDC6_HUMAN	I	297	ENSP00000263102:M297I	ENSP00000263102:M297I	M	-	3	0	CCDC6	61236799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.815000	0.86186	2.560000	0.86352	0.461000	0.40582	ATG	CCDC6	-	pfam_DUF2046		0.448	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC6	HGNC	protein_coding	OTTHUMT00000048176.2	C	NM_005436		61566793	-1	no_errors	ENST00000263102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61566793	C	T	61566793	3	4	152	1	0	0	0	0	1	0	0	0	2835	826	29	1	549	1	CCDC6	10	61566793	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5984059	61566793	73967954	206	25780										
ZNF365	22891	genome.wustl.edu	37	chr10	64135973	64135973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgcaacagaaggcttttgaGgaaagcagatatccctggca	11	8	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:64135973G>A	ENST00000395254.3	+	2	301	c.21G>A	c.(19-21)gaG>gaA	p.E7E	ZNF365_ENST00000395255.3_Silent_p.E7E|ZNF365_ENST00000410046.3_Silent_p.E7E|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGCTTTTGAGGAAAGCAGAT	0.468																																																	0													76	81	80					10																	64135973		2203	4300	6503	SO:0001819	synonymous_variant	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.21G>A	10.37:g.64135973G>A				Silent	SNP	NULL	p.E7	ENST00000395254.3	37	c.21	CCDS31209.1	10																																																																																			ZNF365	-	NULL		0.468	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	G	NM_014951		64135973	1	no_errors	ENST00000410046	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64135973	G	A	64135973	2	1	152	1	0	0	0	0	0	0	0	1	17899	991	35	4		4	ZNF365	10	64135973	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2569180	64135973	71398774	207	25781										
CDH23	64072	genome.wustl.edu	37	chr10	73269977	73269977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gctccggcagccactggacaGagaggtatgacttgcccata	12	12	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:73269977G>A	ENST00000224721.6	+	3	289	c.284G>A	c.(283-285)aGa>aAa	p.R95K	CDH23_ENST00000398809.4_Missense_Mutation_p.R95K|CDH23_ENST00000461841.3_Missense_Mutation_p.R140K|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000299366.7_Missense_Mutation_p.R140K|CDH23_ENST00000398842.3_Missense_Mutation_p.R95K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCACTGGACAGAGAGGTATGA	0.612																																																	0													55	63	60					10																	73269977		1941	4150	6091	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.284G>A	10.37:g.73269977G>A	ENSP00000224721:p.Arg95Lys		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R95K	ENST00000224721.6	37	c.284		10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975869	0.74360	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01705	4.68;4.68	5.23	5.23	0.72850	Cadherin (5);Cadherin-like (1);	0.080835	0.46145	D	0.000318	T	0.12263	0.0298	M	0.83852	2.665	0.80722	D	1	D;B;D;B	0.59357	0.985;0.169;0.982;0.336	D;B;D;B	0.72625	0.978;0.165;0.963;0.114	T	0.00463	-1.1724	10	0.52906	T	0.07	.	18.4374	0.90652	0.0:0.0:1.0:0.0	.	95;95;95;95	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	K	95;95;95;95;95;95;95;36	ENSP00000381789:R95K;ENSP00000381822:R95K	ENSP00000224721:R95K	R	+	2	0	CDH23	72939983	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	8.604000	0.90877	2.439000	0.82584	0.456000	0.33151	AGA	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73269977	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73269977	G	A	73269977	3	1	152	1	0	0	0	0	1	0	0	0	3113	942	33	1	294	1	CDH23	10	73269977	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9134004	73269977	62264770	208	25782										
GLUD1	2746	genome.wustl.edu	37	chr10	88811555	88811555	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtacactttgaagactttctCaatggcattaacataggcag	8	8	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:88811555C>G	ENST00000277865.4	-	13	1726	c.1630G>C	c.(1630-1632)Gag>Cag	p.E544Q	GLUD1_ENST00000537649.1_Missense_Mutation_p.E377Q|GLUD1_ENST00000544149.1_Missense_Mutation_p.E411Q	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	544					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	AAGACTTTCTCAATGGCATTA	0.428																																																	0													249	216	227					10																	88811555		2203	4300	6503	SO:0001583	missense	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1630G>C	10.37:g.88811555C>G	ENSP00000277865:p.Glu544Gln		B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.E544Q	ENST00000277865.4	37	c.1630	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428711	0.62844	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96745	-4.11;-4.11;-4.11	4.94	4.94	0.65067	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.70842	2.15	0.80722	D	1	P;P	0.42010	0.601;0.768	B;B	0.33454	0.164;0.088	D	0.94499	0.7708	10	0.36615	T	0.2	.	18.5437	0.91039	0.0:1.0:0.0:0.0	.	411;544	B4DGN5;P00367	.;DHE3_HUMAN	Q	544;501;377;243;476;411	ENSP00000277865:E544Q;ENSP00000439291:E377Q;ENSP00000444732:E411Q	ENSP00000277865:E544Q	E	-	1	0	GLUD1	88801535	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.783000	0.85696	2.478000	0.83669	0.555000	0.69702	GAG	GLUD1	-	smart_Glu/Leu/Phe/Val_DH_C		0.428	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	C	NM_005271		88811555	-1	no_errors	ENST00000277865	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88811555	C	G	88811555	3	3	152	1	0	0	0	0	1	0	0	0	6495	835	29	1	50	1	GLUD1	10	88811555	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	15541578	88811555	46723192	209	25783										
C10orf12	26148	genome.wustl.edu	37	chr10	98742623	98742623	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcgaagagaatttggacaaGaagaaaaaaggtaaaaaatt	9	3	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:98742623G>T	ENST00000286067.2	+	1	1583	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	492										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATTTGGACAAGAAGAAAAAAG	0.408																																																	0													65	71	69					10																	98742623		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1476G>T	10.37:g.98742623G>T	ENSP00000286067:p.Lys492Asn		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.K492N	ENST00000286067.2	37	c.1476	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430399	0.62844	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.11821	2.74	5.82	3.97	0.46021	.	0.448487	0.21287	N	0.077057	T	0.20700	0.0498	L	0.34521	1.04	0.33678	D	0.611772	D;D	0.63046	0.992;0.992	P;P	0.61722	0.893;0.893	T	0.19063	-1.0317	10	0.45353	T	0.12	-9.9943	9.1068	0.36703	0.2233:0.0:0.7767:0.0	.	326;492	A0PJI9;Q8N655	.;CJ012_HUMAN	N	492;326	ENSP00000286067:K492N	ENSP00000286067:K492N	K	+	3	2	C10orf12	98732613	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.836000	0.48183	0.816000	0.34421	0.561000	0.74099	AAG	C10orf12	-	NULL		0.408	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742623	1	no_errors	ENST00000286067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98742623	G	T	98742623	3	4	152	1	0	0	0	0	1	0	0	0	1593	933	33	3	1478	3	C10orf12	10	98742623	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9931068	98742623	36792124	210	25784										
MMS19	64210	genome.wustl.edu	37	chr10	99238091	99238091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaaccctgcaggacagatggGatcacaagatgatggtcctt	11	9	1	3	rs572827758		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:99238091G>A	ENST00000438925.2	-	4	653	c.318C>T	c.(316-318)atC>atT	p.I106I	MMS19_ENST00000327238.10_Silent_p.I106I|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Silent_p.I106I|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000355839.6_Silent_p.I106I	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	106					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GGACAGATGGGATCACAAGAT	0.458								Direct reversal of damage																																									0													107	79	88					10																	99238091		2203	4299	6502	SO:0001819	synonymous_variant	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.318C>T	10.37:g.99238091G>A			B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.I106	ENST00000438925.2	37	c.318	CCDS7464.1	10																																																																																			MMS19	-	superfamily_ARM-type_fold		0.458	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	G			99238091	-1	no_errors	ENST00000370782	ensembl	human	known	70_37	silent	SNP	0.977	A	A	99238091	G	A	99238091	2	1	152	1	0	0	0	0	0	0	0	1	9695	1164	41	1		1	MMS19	10	99238091	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	495468	99238091	36296656	211	25785										
PKD2L1	9033	genome.wustl.edu	37	chr10	102057296	102057296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtccaggtagtagccacctcCgctgtagcttgtgagcctgc	12	13	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:102057296C>T	ENST00000318222.3	-	5	1181	c.799G>A	c.(799-801)Gga>Aga	p.G267R	PKD2L1_ENST00000353274.3_Missense_Mutation_p.G267R|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	267					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGCCACCTCCGCTGTAGCTT	0.627																																																	0													55	50	52					10																	102057296		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.799G>A	10.37:g.102057296C>T	ENSP00000325296:p.Gly267Arg		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.G267R	ENST00000318222.3	37	c.799	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.081419	0.94050	.	.	ENSG00000107593	ENST00000353274;ENST00000318222;ENST00000339977	T;T	0.70986	-0.53;-0.53	5.53	5.53	0.82687	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.86230	0.5883	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87641	0.2522	10	0.62326	D	0.03	-9.9864	18.4373	0.90650	0.0:1.0:0.0:0.0	.	220;267	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	R	267	ENSP00000266049:G267R;ENSP00000325296:G267R	ENSP00000325296:G267R	G	-	1	0	PKD2L1	102047286	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.755000	0.85180	2.593000	0.87608	0.561000	0.74099	GGA	PKD2L1	-	pfam_PKD1_2_channel		0.627	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102057296	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102057296	C	T	102057296	3	4	152	1	0	0	0	0	1	0	0	0	11991	661	23	2	1666	2	PKD2L1	10	102057296	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2819205	102057296	33477451	212	25786										
CCDC147	159686	genome.wustl.edu	37	chr10	106118345	106118345	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccactgcccttaagctctctCaggatgatcagaccaccatt	6	15	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:106118345C>T	ENST00000369704.3	+	2	390	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		86						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TAAGCTCTCTCAGGATGATCA	0.418																																																	0													84	70	75					10																	106118345		2203	4300	6503	SO:0001587	stop_gained	159686																														ENST00000369704.3:c.256C>T	10.37:g.106118345C>T	ENSP00000358718:p.Gln86*		D3DRA6|Q8NA27	Nonsense_Mutation	SNP	superfamily_Homeodomain-like	p.Q86*	ENST00000369704.3	37	c.256	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.243405	0.97408	.	.	ENSG00000120051	ENST00000369704	.	.	.	5.46	5.46	0.80206	.	0.224065	0.47455	D	0.000226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-24.0364	16.0093	0.80385	0.1349:0.8651:0.0:0.0	.	.	.	.	X	86	.	ENSP00000358718:Q86X	Q	+	1	0	CCDC147	106108335	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.267000	0.51577	2.714000	0.92807	0.655000	0.94253	CAG	CCDC147	-	NULL		0.418	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	C			106118345	1	no_errors	ENST00000369704	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	106118345	C	T	106118345	4	4	152	1	0	0	0	0	0	1	0	0	2786	827	29	1	262	1	CCDC147	10	106118345	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	4061049	106118345	29416402	213	25787										
TDRD1	56165	genome.wustl.edu	37	chr10	115947675	115947675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgacagagccatttaattttGagaaaaatgaaaacaagctt	7	5	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:115947675G>C	ENST00000369280.1	+	2	545	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	TDRD1_ENST00000369282.1_Missense_Mutation_p.E29Q|TDRD1_ENST00000369281.2_Missense_Mutation_p.E29Q|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Missense_Mutation_p.E29Q			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	29					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTTAATTTTGAGAAAAATGA	0.393																																																	0													99	106	104					10																	115947675		2203	4299	6502	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.85G>C	10.37:g.115947675G>C	ENSP00000358286:p.Glu29Gln		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.E29Q	ENST00000369280.1	37	c.85		10	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436146	0.62955	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.58	3.7	0.42460	.	0.193522	0.36555	N	0.002534	T	0.59404	0.2191	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.65815	0.991;0.991;0.995;0.995	P;P;D;D	0.64144	0.837;0.837;0.922;0.922	T	0.61426	-0.7065	10	0.87932	D	0	-16.0067	6.9461	0.24520	0.0916:0.1772:0.7312:0.0	.	29;29;29;29	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	Q	29	ENSP00000358288:E29Q;ENSP00000251864:E29Q;ENSP00000358287:E29Q;ENSP00000358286:E29Q	ENSP00000251864:E29Q	E	+	1	0	TDRD1	115937665	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.716000	0.47219	1.345000	0.45676	0.563000	0.77884	GAG	TDRD1	-	NULL		0.393	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115947675	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115947675	G	C	115947675	3	2	152	1	0	0	0	0	1	0	0	0	15760	1291	45	1	87	1	TDRD1	10	115947675	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9829330	115947675	19587072	214	25788										
MKI67	4288	genome.wustl.edu	37	chr10	129903836	129903836	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtcatcagttgttgattcctCagtgtggtctggtgtctgga	13	7	5	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr10:129903836C>T	ENST00000368654.3	-	13	6643	c.6268G>A	c.(6268-6270)Gag>Aag	p.E2090K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1730K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2090	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTGATTCCTCAGTGTGGTCT	0.502																																																	0													298	290	293					10																	129903836		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6268G>A	10.37:g.129903836C>T	ENSP00000357643:p.Glu2090Lys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E2090K	ENST00000368654.3	37	c.6268	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921762	0.17982	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01279	5.06;5.07	4.15	-2.17	0.07059	.	1.534330	0.04022	N	0.299871	T	0.01254	0.0041	L	0.38175	1.15	0.09310	N	1	B;B;B	0.16603	0.018;0.018;0.01	B;B;B	0.22880	0.042;0.042;0.019	T	0.46925	-0.9156	10	0.07030	T	0.85	.	2.0625	0.03595	0.1393:0.246:0.1231:0.4916	.	2089;1730;2090	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2090;1730;2089	ENSP00000357643:E2090K;ENSP00000357642:E1730K	ENSP00000357642:E1730K	E	-	1	0	MKI67	129793826	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.294000	0.08309	-0.556000	0.06134	0.655000	0.94253	GAG	MKI67	-	NULL		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129903836	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	T	T	129903836	C	T	129903836	3	4	152	1	0	0	0	0	1	0	0	0	9621	835	29	1	3514	1	MKI67	10	129903836	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	13956161	129903836	5630911	215	25789										
OR51D1	390038	genome.wustl.edu	37	chr11	4661050	4661050	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccccagctcttggtccctatCatagccacttcaaatggaaa	6	14	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:4661050C>T	ENST00000357605.2	+	1	106	c.30C>T	c.(28-30)atC>atT	p.I10I		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTCCCTATCATAGCCACTT	0.488																																																	0													146	139	141					11																	4661050		2201	4298	6499	SO:0001819	synonymous_variant	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.30C>T	11.37:g.4661050C>T			B9EIK4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I10	ENST00000357605.2	37	c.30	CCDS31357.1	11																																																																																			OR51D1	-	NULL		0.488	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	C	NM_001004751		4661050	1	no_errors	ENST00000357605	ensembl	human	known	70_37	silent	SNP	0.007	T	T	4661050	C	T	4661050	2	4	152	1	0	0	0	0	0	0	0	1	11117	816	29	1		1	OR51D1	11	4661050	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		4661050	130345466	216	25790										
NLRP14	338323	genome.wustl.edu	37	chr11	7083724	7083724	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gatatccaaactgtaacattCagaggctcgggtgagttcat	10	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:7083724C>T	ENST00000299481.4	+	10	3311	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	989					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGTAACATTCAGAGGCTCGG	0.403																																																	0													131	122	125					11																	7083724		2201	4296	6497	SO:0001587	stop_gained	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2965C>T	11.37:g.7083724C>T	ENSP00000299481:p.Gln989*		Q7RTR6	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q989*	ENST00000299481.4	37	c.2965	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	42	9.210843	0.99101	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.84	0.398	0.16319	.	0.191128	0.25916	N	0.027477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.5211	0.33275	0.0:0.4206:0.4894:0.09	.	.	.	.	X	989	.	ENSP00000299481:Q989X	Q	+	1	0	NLRP14	7040300	0.002000	0.14202	0.954000	0.39281	0.773000	0.43773	-0.087000	0.11215	-0.002000	0.14469	0.655000	0.94253	CAG	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	C	NM_176822		7083724	1	no_errors	ENST00000299481	ensembl	human	known	70_37	nonsense	SNP	0.993	T	T	7083724	C	T	7083724	4	4	152	1	0	0	0	0	0	1	0	0	10500	827	29	1	2999	1	NLRP14	11	7083724	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2422674	7083724	127922792	217	25791										
HARBI1	283254	genome.wustl.edu	37	chr11	46637297	46637297	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggccttttcggttcacatagGagaggtcttcagcatttggt	12	8	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:46637297G>C	ENST00000326737.3	-	2	738	c.491C>G	c.(490-492)tCc>tGc	p.S164C	ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	164						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GTTCACATAGGAGAGGTCTTC	0.517																																																	0													193	197	195					11																	46637297		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.491C>G	11.37:g.46637297G>C	ENSP00000317743:p.Ser164Cys		D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.S164C	ENST00000326737.3	37	c.491	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472278	0.84533	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.53249	1.67	0.80722	D	1	D	0.61697	0.99	D	0.67231	0.95	T	0.75340	-0.3352	9	0.48119	T	0.1	-13.5457	18.8631	0.92281	0.0:0.0:1.0:0.0	.	164	Q96MB7	HARB1_HUMAN	C	164	.	ENSP00000317743:S164C	S	-	2	0	HARBI1	46593873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.170000	0.71920	2.462000	0.83206	0.655000	0.94253	TCC	HARBI1	-	pfam_Harbinger_derived_prot_plant		0.517	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	G	NM_173811		46637297	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46637297	G	C	46637297	3	2	152	1	0	0	0	0	1	0	0	0	6978	1174	41	1	566	1	HARBI1	11	46637297	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	39553573	46637297	88369219	218	25792										
NDUFS3	4722	genome.wustl.edu	37	chr11	47602402	47602402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgcaggtgtcctgcttcaatGagttagaggtctgtatccat	11	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:47602402G>A	ENST00000263774.4	+	4	329	c.247G>A	c.(247-249)Gag>Aag	p.E83K	NDUFS3_ENST00000528192.1_Missense_Mutation_p.E83K|KBTBD4_ENST00000430070.2_5'Flank|KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR|KBTBD4_ENST00000533290.1_5'Flank|NDUFS3_ENST00000534716.2_Missense_Mutation_p.E83K|KBTBD4_ENST00000526005.1_5'Flank|NDUFS3_ENST00000534208.1_3'UTR|KBTBD4_ENST00000525720.1_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	83					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CTGCTTCAATGAGTTAGAGGT	0.493																																					Pancreas(15;551 601 22438 23457 52512)												0													204	173	183					11																	47602402		2201	4298	6499	SO:0001583	missense	4722			AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.247G>A	11.37:g.47602402G>A	ENSP00000263774:p.Glu83Lys		B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC	p.E83K	ENST00000263774.4	37	c.247	CCDS7941.1	11	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068295	0.76301	.	.	ENSG00000213619	ENST00000263774;ENST00000528192;ENST00000530295;ENST00000534716	D;T;D	0.86694	-2.16;2.25;-2.16	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	M	0.89534	3.04	0.80722	D	1	B;B;B	0.33940	0.122;0.433;0.235	B;B;B	0.35039	0.081;0.194;0.162	D	0.90800	0.4693	10	0.72032	D	0.01	-16.5821	20.2789	0.98501	0.0:0.0:1.0:0.0	.	83;83;9	B4DFM8;O75489;Q9UF24	.;NDUS3_HUMAN;.	K	83;83;61;83	ENSP00000263774:E83K;ENSP00000432099:E83K;ENSP00000434970:E83K	ENSP00000263774:E83K	E	+	1	0	NDUFS3	47558978	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.476000	0.97823	2.788000	0.95919	0.650000	0.86243	GAG	NDUFS3	-	NULL		0.493	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS3	HGNC	protein_coding	OTTHUMT00000391749.1	G	NM_004551		47602402	1	no_errors	ENST00000263774	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47602402	G	A	47602402	3	1	152	1	0	0	0	0	1	0	0	0	10317	1291	45	1	261	1	NDUFS3	11	47602402	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	965105	47602402	87404114	219	25793										
OR5L2	26338	genome.wustl.edu	37	chr11	55595001	55595001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtgcatggtgcaattctacTtgttttgcacatgtggagtc	12	7	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:55595001T>C	ENST00000378397.1	+	1	307	c.307T>C	c.(307-309)Ttg>Ctg	p.L103L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCAATTCTACTTGTTTTGCAC	0.473										HNSCC(27;0.073)																																							0													188	178	181					11																	55595001		2200	4296	6496	SO:0001819	synonymous_variant	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.307T>C	11.37:g.55595001T>C			Q6IF66|Q96RB2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L103	ENST00000378397.1	37	c.307	CCDS31511.1	11																																																																																			OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	T	NM_001004739		55595001	1	no_errors	ENST00000378397	ensembl	human	known	70_37	silent	SNP	0.006	C	C	55595001	T	C	55595001	2	2	152	1	0	0	0	0	0	0	0	1	11195	1606	56	5		5	OR5L2	11	55595001	Silent	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	7992599	55595001	79411515	220	25794										
OR1S1	219959	genome.wustl.edu	37	chr11	57982597	57982597	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtcgtcattgacaatttgctCttggggaccatggcctatga	11	9	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:57982597C>G	ENST00000309433.6	+	1	381	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACAATTTGCTCTTGGGGACCA	0.448																																																	0													183	173	176					11																	57982597		2201	4296	6497	SO:0001819	synonymous_variant	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.381C>G	11.37:g.57982597C>G			Q6IFG3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L127	ENST00000309433.6	37	c.381	CCDS31546.1	11																																																																																			OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	C	NM_001004458		57982597	1	no_errors	ENST00000309433	ensembl	human	known	70_37	silent	SNP	0.000	G	G	57982597	C	G	57982597	2	3	152	1	0	0	0	0	0	0	0	1	10996	900	32	1		1	OR1S1	11	57982597	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2387596	57982597	77023919	221	25795										
DAGLA	747	genome.wustl.edu	37	chr11	61503241	61503241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgacctgacgggtgatgctGagcgcctccccgtggagggg	17	12	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:61503241G>C	ENST00000257215.5	+	12	1359	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	415					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGGTGATGCTGAGCGCCTCCC	0.677																																																	0													48	43	45					11																	61503241		2201	4299	6500	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1243G>C	11.37:g.61503241G>C	ENSP00000257215:p.Glu415Gln		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.E415Q	ENST00000257215.5	37	c.1243	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732882	0.89482	.	.	ENSG00000134780	ENST00000257215	T	0.29655	1.56	3.86	3.86	0.44501	.	0.057498	0.64402	D	0.000002	T	0.54870	0.1885	M	0.76002	2.32	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.58457	-0.7633	10	0.42905	T	0.14	-26.8127	16.3615	0.83270	0.0:0.0:1.0:0.0	.	415	Q9Y4D2	DGLA_HUMAN	Q	415	ENSP00000257215:E415Q	ENSP00000257215:E415Q	E	+	1	0	DAGLA	61259817	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	9.204000	0.95041	2.157000	0.67596	0.462000	0.41574	GAG	DAGLA	-	pfam_Lipase_3		0.677	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	G	NM_006133		61503241	1	no_errors	ENST00000257215	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61503241	G	C	61503241	3	2	152	1	0	0	0	0	1	0	0	0	4231	1291	45	1	1285	1	DAGLA	11	61503241	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3520644	61503241	73503275	222	25796										
SNX15	29907	genome.wustl.edu	37	chr11	64807250	64807250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctgcgcctgcacctgtctCaactcccaccctaacaggga	7	18	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:64807250C>G	ENST00000377244.3	+	8	1145	c.1015C>G	c.(1015-1017)Caa>Gaa	p.Q339E	SAC3D1_ENST00000531072.1_5'Flank|SNX15_ENST00000352068.5_Missense_Mutation_p.Q253E|RP11-399J13.3_ENST00000301886.3_3'UTR|SAC3D1_ENST00000398846.1_5'Flank	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	339	MIT.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTGTCTCAACTCCCACC	0.642																																					Esophageal Squamous(56;269 1304 3324 8253)												0													72	54	60					11																	64807250		2201	4297	6498	SO:0001583	missense	29907			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.1015C>G	11.37:g.64807250C>G	ENSP00000366452:p.Gln339Glu		E5KQS6|Q9NRS5	Missense_Mutation	SNP	pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox	p.Q339E	ENST00000377244.3	37	c.1015	CCDS8089.1	11	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008063	0.19199	.	.	ENSG00000110025	ENST00000377244;ENST00000352068	T;T	0.28069	1.63;1.63	3.68	-0.615	0.11587	MIT (1);	0.369348	0.20736	N	0.086628	T	0.14442	0.0349	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.11012	-1.0605	10	0.39692	T	0.17	-17.1942	3.354	0.07163	0.1817:0.4897:0.0:0.3286	.	253;339	E5KQS6;Q9NRS6	.;SNX15_HUMAN	E	339;253	ENSP00000366452:Q339E;ENSP00000316410:Q253E	ENSP00000316410:Q253E	Q	+	1	0	SNX15	64563826	0.050000	0.20438	0.006000	0.13384	0.002000	0.02628	0.594000	0.24014	-0.232000	0.09811	-0.145000	0.13849	CAA	SNX15	-	smart_MIT		0.642	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX15	HGNC	protein_coding	OTTHUMT00000091004.3	C			64807250	1	no_errors	ENST00000377244	ensembl	human	known	70_37	missense	SNP	0.021	G	G	64807250	C	G	64807250	3	3	152	1	0	0	0	0	1	0	0	0	14916	827	29	1	1045	1	SNX15	11	64807250	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3304009	64807250	70199266	223	25797										
C11orf68	83638	genome.wustl.edu	37	chr11	65685220	65685220	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgggctcaccttggccacctGaagctggccttcaaccacgg	11	15	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:65685220G>C	ENST00000530188.1	-	1	611	c.466C>G	c.(466-468)Cag>Gag	p.Q156E	C11orf68_ENST00000438576.2_Missense_Mutation_p.Q198E|DRAP1_ENST00000532933.1_5'Flank|DRAP1_ENST00000312515.2_5'Flank|C11orf68_ENST00000449692.3_Missense_Mutation_p.Q197E|DRAP1_ENST00000527119.1_5'Flank|DRAP1_ENST00000376991.2_5'Flank			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	156							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TTGGCCACCTGAAGCTGGCCT	0.642																																																	0													37	36	37					11																	65685220		2201	4296	6497	SO:0001583	missense	83638			AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"basophilic leukemia-expressed protein"					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.466C>G	11.37:g.65685220G>C	ENSP00000433914:p.Gln156Glu		J3KQG9|Q9BT13	Missense_Mutation	SNP	pfam_DUF1917,superfamily_TIF_eIF4e-like_dom	p.Q198E	ENST00000530188.1	37	c.592		11	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612752	0.28712	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.38887	1.11;1.11;1.11	4.72	4.72	0.59763	Translation Initiation factor eIF- 4e-like  domain (2);	0.609726	0.17329	N	0.178210	T	0.31199	0.0789	N	0.22421	0.69	0.31304	N	0.688004	P;P	0.52170	0.939;0.951	B;B	0.43950	0.31;0.437	T	0.22941	-1.0202	10	0.38643	T	0.18	-15.3183	10.7987	0.46476	0.0:0.0:0.8108:0.1892	.	197;156	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	E	198;197;156	ENSP00000398350:Q198E;ENSP00000409681:Q197E;ENSP00000433914:Q156E	ENSP00000398350:Q198E	Q	-	1	0	C11orf68	65441796	0.316000	0.24580	0.988000	0.46212	0.839000	0.47603	2.295000	0.43576	2.345000	0.79718	0.462000	0.41574	CAG	C11orf68	-	pfam_DUF1917,superfamily_TIF_eIF4e-like_dom		0.642	C11orf68-003	PUTATIVE	basic	protein_coding	C11orf68	HGNC	protein_coding	OTTHUMT00000391173.1	G	NM_031450		65685220	-1	no_errors	ENST00000438576	ensembl	human	known	70_37	missense	SNP	0.953	C	C	65685220	G	C	65685220	3	2	152	1	0	0	0	0	1	0	0	0	1662	1299	45	1	293	1	C11orf68	11	65685220	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	877970	65685220	69321296	224	25798										
SAPS3	55291	genome.wustl.edu	37	chr11	68312351	68312351	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcacttctgatgtctcccaGatgaatgatagactgggaga	10	9	3	6			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:68312351G>A	ENST00000393800.2	+	4	527	c.273G>A	c.(271-273)caG>caA	p.Q91Q	PPP6R3_ENST00000265636.5_Silent_p.Q91Q|PPP6R3_ENST00000265637.4_Silent_p.Q91Q|PPP6R3_ENST00000524845.1_Silent_p.Q91Q|PPP6R3_ENST00000393799.2_Silent_p.Q91Q|PPP6R3_ENST00000534534.1_De_novo_Start_InFrame|PPP6R3_ENST00000527403.2_Silent_p.Q91Q|PPP6R3_ENST00000529710.1_Silent_p.Q91Q|PPP6R3_ENST00000393801.3_Silent_p.Q91Q|PPP6R3_ENST00000524904.1_Silent_p.Q91Q	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	91					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATGTCTCCCAGATGAATGATA	0.348																																																	0													99	96	97					11																	68312351		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.273G>A	11.37:g.68312351G>A			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.Q91	ENST00000393800.2	37	c.273	CCDS53672.1	11																																																																																			PPP6R3	-	NULL		0.348	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	G	NM_018312		68312351	1	no_errors	ENST00000393799	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68312351	G	A	68312351	2	1	152	1	0	0	0	0	0	0	0	1	13868	933	33	1		1	SAPS3	11	68312351	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2627131	68312351	66694165	225	25799										
MYO7A	4647	genome.wustl.edu	37	chr11	76892542	76892542	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agggcccgccatgagcctgtCaatcactcagacatggtgga	12	12	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:76892542C>G	ENST00000409709.3	+	23	3083	c.2811C>G	c.(2809-2811)gtC>gtG	p.V937V	MYO7A_ENST00000409619.2_Silent_p.V926V|MYO7A_ENST00000409893.1_Silent_p.V937V|MYO7A_ENST00000458637.2_Silent_p.V937V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	937					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGAGCCTGTCAATCACTCAG	0.617																																																	0													52	59	57					11																	76892542		1993	4142	6135	SO:0001819	synonymous_variant	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2811C>G	11.37:g.76892542C>G			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.V937	ENST00000409709.3	37	c.2811	CCDS53683.1	11																																																																																			MYO7A	-	NULL		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	C	NM_000260		76892542	1	no_errors	ENST00000409709	ensembl	human	known	70_37	silent	SNP	1.000	G	G	76892542	C	G	76892542	2	3	152	1	0	0	0	0	0	0	0	1	10105	813	29	1		1	MYO7A	11	76892542	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8580191	76892542	58113974	226	25800										
ANGPTL5	253935	genome.wustl.edu	37	chr11	101771164	101771164	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aatacaaaaaaattaacctaGaagatctccaaatccatcca	2	10	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:101771164G>A	ENST00000334289.3	-	7	1253	c.658C>T	c.(658-660)Cta>Tta	p.L220L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	220	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AATTAACCTAGAAGATCTCCA	0.338																																																	0													117	105	109					11																	101771164		2203	4299	6502	SO:0001819	synonymous_variant	253935			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.658C>T	11.37:g.101771164G>A			A8K658|Q86VR9	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L220	ENST00000334289.3	37	c.658	CCDS8312.1	11																																																																																			ANGPTL5	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.338	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	G	NM_178127		101771164	-1	no_errors	ENST00000334289	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101771164	G	A	101771164	2	1	152	1	0	0	0	0	0	0	0	1	617	933	33	1		1	ANGPTL5	11	101771164	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	24878622	101771164	33235352	227	25801										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120291541	120291541	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agtggagacaatccagtcttCgtacagtctgtcaaagaagg	11	8	3	2	rs370997007		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:120291541C>T	ENST00000397843.2	+	5	445	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Silent_p.F74F	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	93	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCCAGTCTTCGTACAGTCTG	0.398			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0								C	,	0,3916		0,0,1958	95	88	90		222,279	4.8	1	11		90	3,8311		0,3,4154	no	coding-synonymous,coding-synonymous	ARHGEF12	NM_001198665.1,NM_015313.2	,	0,3,6112	TT,TC,CC		0.0361,0.0,0.0245	,	74/1526,93/1545	120291541	3,12227	1958	4157	6115	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.279C>T	11.37:g.120291541C>T			O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F74	ENST00000397843.2	37	c.222	CCDS41727.1	11																																																																																			ARHGEF12	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120291541	1	no_errors	ENST00000356641	ensembl	human	known	70_37	silent	SNP	1.000	T	T	120291541	C	T	120291541	2	4	152	1	0	0	0	0	0	0	0	1	897	883	31	1		1	ARHGEF12	11	120291541	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	18520377	120291541	14714975	228	25802										
TECTA	7007	genome.wustl.edu	37	chr11	121031101	121031101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agcagcgtggtgctggcccaGagctggaaaaccaatggcat	14	10	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr11:121031101G>A	ENST00000392793.1	+	15	5218	c.4947G>A	c.(4945-4947)caG>caA	p.Q1649Q	TECTA_ENST00000264037.2_Silent_p.Q1649Q			O75443	TECTA_HUMAN	tectorin alpha	1649	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCTGGCCCAGAGCTGGAAAA	0.542																																																	0													124	120	121					11																	121031101		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4947G>A	11.37:g.121031101G>A				Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.Q1649	ENST00000392793.1	37	c.4947	CCDS8434.1	11																																																																																			TECTA	-	NULL		0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	G	NM_005422		121031101	1	no_errors	ENST00000264037	ensembl	human	known	70_37	silent	SNP	1.000	A	A	121031101	G	A	121031101	2	1	152	1	0	0	0	0	0	0	0	1	15777	933	33	1		1	TECTA	11	121031101	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	739560	121031101	13975415	229	25803										
WNK1	65125	genome.wustl.edu	37	chr12	992678	992678	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcagtgtggaaccagagggtGatcagggattggagagtcta	16	5	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:992678G>A	ENST00000315939.6	+	16	4250	c.3607G>A	c.(3607-3609)Gat>Aat	p.D1203N	WNK1_ENST00000530271.2_Missense_Mutation_p.D1701N|WNK1_ENST00000535572.1_Missense_Mutation_p.D956N|WNK1_ENST00000537687.1_Missense_Mutation_p.D1463N|WNK1_ENST00000340908.4_Missense_Mutation_p.D796N	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1203					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCAGAGGGTGATCAGGGATT	0.418																																					Colon(19;451 567 6672 12618 28860)												0													147	158	154					12																	992678		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3607G>A	12.37:g.992678G>A	ENSP00000313059:p.Asp1203Asn		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D1701N	ENST00000315939.6	37	c.5101	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161285	0.78226	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.6	5.6	0.85130	.	0.173869	0.40144	N	0.001168	T	0.28928	0.0718	N	0.19112	0.55	0.36715	D	0.880871	B;P;P	0.39480	0.449;0.675;0.546	B;B;B	0.41988	0.265;0.372;0.205	T	0.30179	-0.9987	10	0.87932	D	0	-8.7264	19.6155	0.95632	0.0:0.0:1.0:0.0	.	956;956;1203	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	N	956;1203;1463;376;1701;796;103	ENSP00000441972:D956N;ENSP00000313059:D1203N;ENSP00000444465:D1463N;ENSP00000433548:D1701N;ENSP00000341292:D796N;ENSP00000446253:D103N	ENSP00000252477:D376N	D	+	1	0	WNK1	862939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.463000	0.73530	2.621000	0.88768	0.585000	0.79938	GAT	WNK1	-	NULL		0.418	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979		992678	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	A	A	992678	G	A	992678	3	1	152	1	0	0	0	0	1	0	0	0	17408	1290	45	1	5171	1	WNK1	12	992678	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		992678	132859217	230	25804										
FOXM1	2305	genome.wustl.edu	37	chr12	2968332	2968332	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccacttcctgggagtagctGagctgggaggcagggtcaga	16	10	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:2968332G>C	ENST00000359843.3	-	9	1832	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Silent_p.L626L|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.L573L	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	588					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGAGTAGCTGAGCTGGGAGG	0.612																																																	0													45	52	49					12																	2968332		2193	4288	6481	SO:0001819	synonymous_variant	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1764C>G	12.37:g.2968332G>C			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L626	ENST00000359843.3	37	c.1878	CCDS8515.1	12																																																																																			FOXM1	-	NULL		0.612	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	G	NM_021953		2968332	-1	no_errors	ENST00000342628	ensembl	human	known	70_37	silent	SNP	0.000	C	C	2968332	G	C	2968332	2	2	152	1	0	0	0	0	0	0	0	1	6036	1277	45	1		1	FOXM1	12	2968332	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1975654	2968332	130883563	231	25805										
KCNA5	3741	genome.wustl.edu	37	chr12	5154481	5154481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtggaggaggcggccagaatGggcagcaggccatgtccctg	18	10	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:5154481G>A	ENST00000252321.3	+	1	1397	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	390					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CGGCCAGAATGGGCAGCAGGC	0.627																																																	0													49	45	46					12																	5154481		2203	4300	6503	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1168G>A	12.37:g.5154481G>A	ENSP00000252321:p.Gly390Arg		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G390R	ENST00000252321.3	37	c.1168	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849249	0.51270	.	.	ENSG00000130037	ENST00000252321	D	0.97752	-4.52	4.87	4.87	0.63330	Ion transport (1);	1.620480	0.06014	U	0.650130	D	0.96941	0.9001	L	0.42744	1.35	0.58432	D	0.999991	B	0.28636	0.218	B	0.35353	0.201	D	0.87203	0.2242	10	0.66056	D	0.02	.	17.2051	0.86915	0.0:0.0:1.0:0.0	.	390	P22460	KCNA5_HUMAN	R	390	ENSP00000252321:G390R	ENSP00000252321:G390R	G	+	1	0	KCNA5	5024742	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	6.176000	0.71955	2.536000	0.85505	0.561000	0.74099	GGG	KCNA5	-	pfam_Ion_trans_dom		0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	G	NM_002234		5154481	1	no_errors	ENST00000252321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5154481	G	A	5154481	3	1	152	1	0	0	0	0	1	0	0	0	8026	1348	47	4	1170	4	KCNA5	12	5154481	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2186149	5154481	128697414	232	25806										
ING4	51147	genome.wustl.edu	37	chr12	6761909	6761909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctttggaacgagcacgagcaGctttcttctccttttgagtc	9	11	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:6761909G>T	ENST00000396807.4	-	5	457	c.419C>A	c.(418-420)gCt>gAt	p.A140D	ING4_ENST00000412586.2_Missense_Mutation_p.A137D|ING4_ENST00000341550.4_Missense_Mutation_p.A139D|ING4_ENST00000423703.2_Missense_Mutation_p.A140D|ING4_ENST00000486287.1_5'UTR|ING4_ENST00000446105.2_Missense_Mutation_p.A136D|ING4_ENST00000444704.2_Missense_Mutation_p.A116D	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	140					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						AGCACGAGCAGCTTTCTTCTC	0.532																																																	0													95	100	98					12																	6761909		2203	4300	6503	SO:0001583	missense	51147			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.419C>A	12.37:g.6761909G>T	ENSP00000380024:p.Ala140Asp		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A140D	ENST00000396807.4	37	c.419	CCDS44813.1	12	.	.	.	.	.	.	.	.	.	.	G	9.848	1.192838	0.21954	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703;ENST00000412586	T;T;T;T;T	0.42513	1.05;0.98;0.99;0.98;0.97	4.59	4.59	0.56863	.	0.207947	0.40728	N	0.001026	T	0.36441	0.0967	L	0.48642	1.525	0.35123	D	0.767265	P;P;P;B;B;P	0.48503	0.551;0.911;0.835;0.004;0.005;0.745	B;P;P;B;B;B	0.45232	0.274;0.467;0.474;0.015;0.009;0.282	T	0.37549	-0.9701	10	0.13108	T	0.6	-1.1156	11.1231	0.48302	0.0844:0.0:0.9156:0.0	.	116;140;136;137;140;139	Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;.;ING4_HUMAN;.	D	139;140;136;116;140;137	ENSP00000343396:A139D;ENSP00000380024:A140D;ENSP00000415903:A136D;ENSP00000397343:A116D;ENSP00000412705:A137D	ENSP00000343396:A139D	A	-	2	0	ING4	6632170	1.000000	0.71417	0.486000	0.27416	0.998000	0.95712	2.734000	0.47368	2.386000	0.81285	0.555000	0.69702	GCT	ING4	-	NULL		0.532	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	HGNC	protein_coding	OTTHUMT00000280467.2	G	NM_198287		6761909	-1	no_errors	ENST00000396807	ensembl	human	known	70_37	missense	SNP	0.927	T	T	6761909	G	T	6761909	3	4	152	1	0	0	0	0	1	0	0	0	7758	971	34	4	346	4	ING4	12	6761909	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1607428	6761909	127089986	233	25807										
SPSB2	84727	genome.wustl.edu	37	chr12	6981681	6981681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gatgtcccagccccacgactCgctgttgctgcccagcagcg	11	17	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:6981681C>T	ENST00000524270.1	-	2	571	c.385G>A	c.(385-387)Gag>Aag	p.E129K	SPSB2_ENST00000523102.1_Missense_Mutation_p.E129K|SPSB2_ENST00000519357.1_Missense_Mutation_p.E129K|LRRC23_ENST00000433346.1_5'Flank|RPL13P5_ENST00000412023.1_RNA	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCACGACTCGCTGTTGCTG	0.701											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													38	42	40					12																	6981681		2203	4299	6502	SO:0001583	missense	84727			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.385G>A	12.37:g.6981681C>T	ENSP00000428338:p.Glu129Lys	638	B7Z4W1|D3DUT0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.E129K	ENST00000524270.1	37	c.385	CCDS8567.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267112	0.80469	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.40756	1.02;1.02;1.02	3.93	3.02	0.34903	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.078219	0.47852	D	0.000205	T	0.45397	0.1340	M	0.75615	2.305	0.33469	D	0.585947	D;P	0.57899	0.981;0.854	P;B	0.49192	0.602;0.153	T	0.58713	-0.7588	10	0.42905	T	0.14	.	5.5212	0.16933	0.0:0.6828:0.207:0.1103	.	129;129	B7Z4W1;Q99619	.;SPSB2_HUMAN	K	129	ENSP00000430872:E129K;ENSP00000428338:E129K;ENSP00000431037:E129K	ENSP00000431037:E129K	E	-	1	0	SPSB2	6851942	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.787000	0.62432	0.961000	0.38030	-0.302000	0.09304	GAG	SPSB2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.701	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB2	HGNC	protein_coding	OTTHUMT00000375721.1	C	NM_032641		6981681	-1	no_errors	ENST00000523102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6981681	C	T	6981681	3	4	152	1	0	0	0	0	1	0	0	0	15143	893	31	1	414	1	SPSB2	12	6981681	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	219772	6981681	126870214	234	25808										
ENO2	2026	genome.wustl.edu	37	chr12	7027274	7027274	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaatacggcaaggatgccacCaatgtgggggatgaaggtgg	16	6	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:7027274C>A	ENST00000535366.1	+	6	1241	c.615C>A	c.(613-615)acC>acA	p.T205T	ENO2_ENST00000229277.1_Silent_p.T205T|ENO2_ENST00000541477.1_Silent_p.T205T|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000538763.1_Silent_p.T162T|ENO2_ENST00000544774.1_Silent_p.T162T			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	205					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGGATGCCACCAATGTGGGGG	0.547																																																	0													86	83	84					12																	7027274		2203	4300	6503	SO:0001819	synonymous_variant	2026			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.615C>A	12.37:g.7027274C>A			B7Z2X9|Q96J33	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.T205	ENST00000535366.1	37	c.615	CCDS8570.1	12																																																																																			ENO2	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.547	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	C			7027274	1	no_errors	ENST00000229277	ensembl	human	known	70_37	silent	SNP	0.996	A	A	7027274	C	A	7027274	2	1	152	1	0	0	0	0	0	0	0	1	5134	581	21	4		4	ENO2	12	7027274	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	45593	7027274	126824621	235	25809										
CLEC12A	160364	genome.wustl.edu	37	chr12	10134688	10134688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcctgaagaagattccactCgtggtatgagagtggataat	11	7	0	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:10134688C>T	ENST00000304361.4	+	5	783	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	CLEC12A_ENST00000350667.4_Missense_Mutation_p.R168C|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R201C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R211C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	201	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AGATTCCACTCGTGGTATGAG	0.363																																					Melanoma(197;1487 2125 16611 22221 34855)												0													78	79	79					12																	10134688		2203	4299	6502	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.601C>T	12.37:g.10134688C>T	ENSP00000302804:p.Arg201Cys		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R211C	ENST00000304361.4	37	c.631	CCDS8608.1	12	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156190	0.01686	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T	0.19394	2.15;2.15;3.93;2.15	4.31	-8.62	0.00881	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.06645	0.0170	N	0.19112	0.55	0.09310	N	1	B;P;P	0.50443	0.18;0.7;0.935	B;B;B	0.25405	0.01;0.06;0.058	T	0.63712	-0.6575	9	0.56958	D	0.05	.	4.1545	0.10254	0.3517:0.4058:0.1335:0.1089	.	168;201;211	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	C	211;201;201;168	ENSP00000347916:R211C;ENSP00000302804:R201C;ENSP00000405244:R201C;ENSP00000345448:R168C	ENSP00000302804:R201C	R	+	1	0	CLEC12A	10025955	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.417000	0.00011	-7.724000	0.00000	-2.102000	0.00361	CGT	CLEC12A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.363	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC12A	HGNC	protein_coding	OTTHUMT00000399545.1	C	NM_138337		10134688	1	no_errors	ENST00000355690	ensembl	human	known	70_37	missense	SNP	0.000	T	T	10134688	C	T	10134688	3	4	152	1	0	0	0	0	1	0	0	0	3502	884	31	1	619	1	CLEC12A	12	10134688	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3107414	10134688	123717207	236	25810										
FAM113B	91523	genome.wustl.edu	37	chr12	47629918	47629918	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atcaattctattgccattcaGatgtcccctcatcagcccat	4	14	5	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:47629918G>A	ENST00000546455.1	+	4	1803	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	PCED1B_ENST00000432328.1_Missense_Mutation_p.D358N|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	358	Pro-rich.						hydrolase activity (GO:0016787)										TTGCCATTCAGATGTCCCCTC	0.527																																																	0													172	167	169					12																	47629918		2203	4300	6503	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1072G>A	12.37:g.47629918G>A	ENSP00000446688:p.Asp358Asn		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.D358N	ENST00000546455.1	37	c.1072	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774880	0.49786	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.34859	1.34;1.34	4.14	3.25	0.37280	.	0.205989	0.26935	N	0.021760	T	0.39009	0.1062	L	0.32530	0.975	0.09310	N	1	D	0.64830	0.994	P	0.59221	0.854	T	0.08046	-1.0741	10	0.46703	T	0.11	-3.6655	7.9477	0.29995	0.11:0.0:0.89:0.0	.	358	Q96HM7	F113B_HUMAN	N	358	ENSP00000446688:D358N;ENSP00000396040:D358N	ENSP00000396040:D358N	D	+	1	0	FAM113B	45916185	0.101000	0.21875	0.003000	0.11579	0.000000	0.00434	3.596000	0.54024	1.326000	0.45319	-0.136000	0.14681	GAT	PCED1B	-	NULL		0.527	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	G	NM_138371		47629918	1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.003	A	A	47629918	G	A	47629918	3	1	152	1	0	0	0	0	1	0	0	0	5417	942	33	1	1074	1	FAM113B	12	47629918	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	37495230	47629918	86221977	237	25811										
SPATS2	65244	genome.wustl.edu	37	chr12	49888630	49888630	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggaacagtctgcgccttcctCagagaaaggtggtatgaatg	13	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:49888630C>T	ENST00000553127.1	+	8	884	c.371C>T	c.(370-372)tCa>tTa	p.S124L	SPATS2_ENST00000321898.6_Missense_Mutation_p.S124L|SPATS2_ENST00000552918.1_Missense_Mutation_p.S124L|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	124						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GCGCCTTCCTCAGAGAAAGGT	0.453																																																	0													72	62	65					12																	49888630		2203	4300	6503	SO:0001583	missense	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.371C>T	12.37:g.49888630C>T	ENSP00000448228:p.Ser124Leu		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.S124L	ENST00000553127.1	37	c.371	CCDS31794.1	12	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157836	0.38119	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.58	4.5	0.54988	.	0.196422	0.35805	N	0.002961	T	0.52901	0.1763	L	0.46157	1.445	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.46816	-0.9164	8	.	.	.	-8.0081	12.6044	0.56514	0.0:0.9056:0.0:0.0944	.	124	Q86XZ4	SPAS2_HUMAN	L	124	.	.	S	+	2	0	SPATS2	48174897	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.357000	0.44125	2.608000	0.88229	0.655000	0.94253	TCA	SPATS2	-	pfam_DUF1387		0.453	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1	C	NM_023071		49888630	1	no_errors	ENST00000321898	ensembl	human	known	70_37	missense	SNP	0.995	T	T	49888630	C	T	49888630	3	4	152	1	0	0	0	0	1	0	0	0	15049	838	29	1	389	1	SPATS2	12	49888630	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2258712	49888630	83963265	238	25812										
SPATS2	65244	genome.wustl.edu	37	chr12	49919880	49919880	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtatcagagtgctccatctCaggcaccaggaaacaccatt	9	12	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:49919880C>G	ENST00000553127.1	+	15	1993	c.1480C>G	c.(1480-1482)Cag>Gag	p.Q494E	SPATS2_ENST00000321898.6_Missense_Mutation_p.Q494E|SPATS2_ENST00000552918.1_Missense_Mutation_p.Q494E			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	494						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGCTCCATCTCAGGCACCAGG	0.537																																																	0													145	121	129					12																	49919880		2203	4300	6503	SO:0001583	missense	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1480C>G	12.37:g.49919880C>G	ENSP00000448228:p.Gln494Glu		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.Q494E	ENST00000553127.1	37	c.1480	CCDS31794.1	12	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843758	0.32606	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	4.26	4.26	0.50523	.	0.372397	0.27886	N	0.017457	T	0.48537	0.1505	L	0.34521	1.04	0.80722	D	1	B	0.27791	0.189	B	0.29785	0.107	T	0.50320	-0.8842	9	0.48119	T	0.1	-4.6443	15.0587	0.71936	0.0:1.0:0.0:0.0	.	494	Q86XZ4	SPAS2_HUMAN	E	494	.	ENSP00000326841:Q494E	Q	+	1	0	SPATS2	48206147	0.687000	0.27671	0.925000	0.36789	0.892000	0.51952	4.387000	0.59626	2.690000	0.91761	0.579000	0.79373	CAG	SPATS2	-	NULL		0.537	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1	C	NM_023071		49919880	1	no_errors	ENST00000321898	ensembl	human	known	70_37	missense	SNP	0.886	G	G	49919880	C	G	49919880	3	3	152	1	0	0	0	0	1	0	0	0	15049	827	29	1	1526	1	SPATS2	12	49919880	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	31250	49919880	83932015	239	25813										
TFCP2	7024	genome.wustl.edu	37	chr12	51503033	51503033	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccaccatgtttcctcatagtGaactctgtgctaatacagtg	7	11	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:51503033G>T	ENST00000257915.5	-	6	1046	c.588C>A	c.(586-588)ttC>ttA	p.F196L	TFCP2_ENST00000549867.1_Missense_Mutation_p.F196L|TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000548115.1_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	196	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TCCTCATAGTGAACTCTGTGC	0.423																																																	0													138	127	131					12																	51503033		2203	4300	6503	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.588C>A	12.37:g.51503033G>T	ENSP00000257915:p.Phe196Leu		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.F196L	ENST00000257915.5	37	c.588	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454542	0.84209	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.47528	0.84;0.84;0.84	5.61	2.73	0.32206	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.91561	3.22	0.80722	D	1	P;D;D	0.65815	0.823;0.995;0.968	P;D;D	0.74674	0.686;0.984;0.928	T	0.73414	-0.3990	10	0.87932	D	0	-14.9154	9.8296	0.40932	0.2282:0.0:0.7718:0.0	.	196;196;196	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	L	196;196;98	ENSP00000257915:F196L;ENSP00000449742:F196L;ENSP00000449280:F98L	ENSP00000257915:F196L	F	-	3	2	TFCP2	49789300	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.936000	0.28938	0.385000	0.24970	0.655000	0.94253	TTC	TFCP2	-	pfam_CP2		0.423	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	G	NM_005653		51503033	-1	no_errors	ENST00000257915	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51503033	G	T	51503033	3	4	152	1	0	0	0	0	1	0	0	0	15825	1281	45	3	960	3	TFCP2	12	51503033	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1583153	51503033	82348862	240	25814										
KRT6B	3854	genome.wustl.edu	37	chr12	52841348	52841348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttgacttgtccaacgccttcGccattcagcctgtggagagg	11	12	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:52841348G>A	ENST00000252252.3	-	8	1481	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	478	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAACGCCTTCGCCATTCAGCC	0.552																																																	0													133	105	115					12																	52841348		2203	4300	6503	SO:0001819	synonymous_variant	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1434C>T	12.37:g.52841348G>A			P48669	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G478	ENST00000252252.3	37	c.1434	CCDS8828.1	12																																																																																			KRT6B	-	NULL		0.552	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	G	NM_005555		52841348	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	silent	SNP	0.786	A	A	52841348	G	A	52841348	2	1	152	1	0	0	0	0	0	0	0	1	8501	1074	38	2		2	KRT6B	12	52841348	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1338315	52841348	81010547	241	25815										
KRT6B	3854	genome.wustl.edu	37	chr12	52842665	52842665	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atctcagatctcagcctctgGatcatgcggttgatctcagc	9	12	5	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:52842665G>A	ENST00000252252.3	-	6	1211	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	388	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGCCTCTGGATCATGCGGT	0.522																																																	0													122	99	107					12																	52842665		2203	4297	6500	SO:0001819	synonymous_variant	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1164C>T	12.37:g.52842665G>A			P48669	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I388	ENST00000252252.3	37	c.1164	CCDS8828.1	12																																																																																			KRT6B	-	pfam_F,superfamily_Prefoldin		0.522	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	G	NM_005555		52842665	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52842665	G	A	52842665	2	1	152	1	0	0	0	0	0	0	0	1	8501	1164	41	1		1	KRT6B	12	52842665	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1317	52842665	81009230	242	25816										
KRT76	51350	genome.wustl.edu	37	chr12	53170949	53170949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tccgctcctgaagccacaggCccctccaccagctcccccag	7	22	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:53170949C>T	ENST00000332411.2	-	1	180	c.127G>A	c.(127-129)Gcc>Acc	p.A43T		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	43	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGCCACAGGCCCCTCCACCA	0.647																																																	0													49	63	58					12																	53170949		2203	4300	6503	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.127G>A	12.37:g.53170949C>T	ENSP00000330101:p.Ala43Thr		B4DRR3|Q7Z795	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.A43T	ENST00000332411.2	37	c.127	CCDS8838.1	12	.	.	.	.	.	.	.	.	.	.	c	14.14	2.445123	0.43429	.	.	ENSG00000185069	ENST00000332411	D	0.85773	-2.03	4.61	3.7	0.42460	.	0.149575	0.31123	N	0.008205	D	0.85535	0.5719	L	0.56769	1.78	0.34749	D	0.73158	D	0.57257	0.979	P	0.54270	0.747	D	0.86032	0.1514	10	0.21014	T	0.42	.	10.0864	0.42421	0.0:0.783:0.1407:0.0762	.	43	Q01546	K22O_HUMAN	T	43	ENSP00000330101:A43T	ENSP00000330101:A43T	A	-	1	0	KRT76	51457216	0.000000	0.05858	1.000000	0.80357	0.534000	0.34807	-0.037000	0.12164	1.514000	0.48869	0.650000	0.86243	GCC	KRT76	-	NULL		0.647	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	C	NM_015848		53170949	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53170949	C	T	53170949	3	4	152	1	0	0	0	0	1	0	0	0	8509	739	26	4	1825	4	KRT76	12	53170949	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	328284	53170949	80680946	243	25817										
SRGAP1	57522	genome.wustl.edu	37	chr12	64410757	64410757	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agattgcattccaacttcatGaggatttaatgaaggttctt	8	6	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:64410757G>T	ENST00000355086.3	+	4	978	c.454G>T	c.(454-456)Gag>Tag	p.E152*	SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.E112*|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.E152*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	152	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCAACTTCATGAGGATTTAAT	0.284																																																	0													124	123	123					12																	64410757		2202	4300	6502	SO:0001587	stop_gained	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.454G>T	12.37:g.64410757G>T	ENSP00000347198:p.Glu152*		Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E152*	ENST00000355086.3	37	c.454	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	49	15.407188	0.99833	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	.	.	.	5.58	5.58	0.84498	.	0.000000	0.35067	U	0.003461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7364	0.91756	0.0:0.0:1.0:0.0	.	.	.	.	X	152;152;112	.	.	E	+	1	0	SRGAP1	62697024	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.551000	0.82182	2.802000	0.96397	0.655000	0.94253	GAG	SRGAP1	-	NULL		0.284	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64410757	1	no_errors	ENST00000355086	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	64410757	G	T	64410757	4	4	152	1	0	0	0	0	0	1	0	0	15175	1291	45	3	468	3	SRGAP1	12	64410757	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	11239808	64410757	69441138	244	25818										
GOLGA2B	55592	genome.wustl.edu	37	chr12	100550804	100550804	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctatgccacttgttgcagtcGtccacaagccacgccagctc	8	16	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:100550804G>C	ENST00000397112.4	-	0	2017				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						TGTTGCAGTCGTCCACAAGCC	0.647																																																	0													48	51	50					12																	100550804		2203	4300	6503			55592																															12.37:g.100550804G>C			Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-		0.647	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	G			100550804	-1	no_errors	ENST00000397112	ensembl	human	known	70_37	rna	SNP	0.000	C	C	100550804	G	C	100550804	1	2	152	0	1	0	0	0	0	0	0	0	6572	1153	40	2		2	GOLGA2B	12	100550804	RNA	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	36140047	100550804	33301091	245	25819										
ANO4	121601	genome.wustl.edu	37	chr12	101437344	101437344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtctgccaagctacagatatCatcatgtgtcctgtgtgtga	10	9	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:101437344C>T	ENST00000392977.3	+	13	1392	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ANO4_ENST00000392979.3_Silent_p.I359I|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	394					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTACAGATATCATCATGTGTC	0.373										HNSCC(74;0.22)																																							0													166	156	160					12																	101437344		2203	4300	6503	SO:0001819	synonymous_variant	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1182C>T	12.37:g.101437344C>T			Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	pfam_Anoctamin	p.I394	ENST00000392977.3	37	c.1182		12																																																																																			ANO4	-	pfam_Anoctamin		0.373	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	C	NM_178826		101437344	1	no_errors	ENST00000392977	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101437344	C	T	101437344	2	4	152	1	0	0	0	0	0	0	0	1	699	816	29	1		1	ANO4	12	101437344	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	886540	101437344	32414551	246	25820										
POLR3B	55703	genome.wustl.edu	37	chr12	106773811	106773811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acttgtatttactcatagctCtacccatgagaaaaaaagca	5	9	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:106773811C>G	ENST00000228347.4	+	9	839	c.617C>G	c.(616-618)tCt>tGt	p.S206C	POLR3B_ENST00000539066.1_Missense_Mutation_p.S148C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	206					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACTCATAGCTCTACCCATGAG	0.348																																																	0													125	110	115					12																	106773811		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.617C>G	12.37:g.106773811C>G	ENSP00000228347:p.Ser206Cys		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.S206C	ENST00000228347.4	37	c.617	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494749	0.85069	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.66815	-0.23;-0.23	5.71	5.71	0.89125	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	M	0.91612	3.225	0.80722	D	1	P	0.35982	0.531	B	0.43155	0.41	T	0.78339	-0.2242	10	0.27785	T	0.31	-18.627	19.4464	0.94849	0.0:1.0:0.0:0.0	.	206	Q9NW08	RPC2_HUMAN	C	206;206;148	ENSP00000228347:S206C;ENSP00000445721:S148C	ENSP00000228347:S206C	S	+	2	0	POLR3B	105297941	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.362000	0.79507	2.694000	0.91930	0.585000	0.79938	TCT	POLR3B	-	pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2		0.348	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	C	NM_018082		106773811	1	no_errors	ENST00000228347	ensembl	human	known	70_37	missense	SNP	1.000	G	G	106773811	C	G	106773811	3	3	152	1	0	0	0	0	1	0	0	0	12253	913	32	1	651	1	POLR3B	12	106773811	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5336467	106773811	27078084	247	25821										
RFX4	5992	genome.wustl.edu	37	chr12	107109195	107109195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	taggcatctcgaacagtgatCcacagtgcagacatcacgtt	9	11	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:107109195C>G	ENST00000392842.1	+	11	1425	c.1011C>G	c.(1009-1011)atC>atG	p.I337M	RFX4_ENST00000229387.5_Missense_Mutation_p.I243M|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.I346M	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	337	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAACAGTGATCCACAGTGCAG	0.453																																																	0													177	132	147					12																	107109195		2203	4300	6503	SO:0001583	missense	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1011C>G	12.37:g.107109195C>G	ENSP00000376585:p.Ile337Met		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.I346M	ENST00000392842.1	37	c.1038	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003125	0.54254	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.44881	0.91;0.91;0.91	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.54323	1.7	0.53688	D	0.999975	P;D;D;D	0.60575	0.573;0.988;0.988;0.98	P;D;D;D	0.72338	0.468;0.977;0.977;0.924	T	0.57481	-0.7804	10	0.52906	T	0.07	-15.9224	14.7596	0.69596	0.1445:0.8555:0.0:0.0	.	243;346;346;337	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	M	337;346;346;243	ENSP00000376585:I337M;ENSP00000350552:I346M;ENSP00000229387:I243M	ENSP00000229387:I243M	I	+	3	3	RFX4	105633325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.252000	0.43196	2.736000	0.93811	0.655000	0.94253	ATC	RFX4	-	NULL		0.453	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	C	NM_032491		107109195	1	no_errors	ENST00000357881	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107109195	C	G	107109195	3	3	152	1	0	0	0	0	1	0	0	0	13295	845	30	1	1226	1	RFX4	12	107109195	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	335384	107109195	26742700	248	25822										
C12orf51	283450	genome.wustl.edu	37	chr12	112681469	112681469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaagcaaacagctgccctagCaggacactgtaggtgggctt	12	10	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:112681469C>T	ENST00000430131.2	-	30	4625	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	HECTD4_ENST00000550722.1_Silent_p.L1436L|HECTD4_ENST00000377560.5_Silent_p.L1410L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1160					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTGCCCTAGCAGGACACTGT	0.582																																																	0													73	78	76					12																	112681469		2195	4291	6486	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3480G>A	12.37:g.112681469C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L1410	ENST00000430131.2	37	c.4230		12																																																																																			HECTD4	-	NULL		0.582	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112681469	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112681469	C	T	112681469	2	4	152	1	0	0	0	0	0	0	0	1	1700	697	25	4		4	C12orf51	12	112681469	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5572274	112681469	21170426	249	25823										
C12orf51	283450	genome.wustl.edu	37	chr12	112686184	112686184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctcccataattttacataaTaaatcatattcttcagcatg	2	9	4	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:112686184T>C	ENST00000430131.2	-	25	3962	c.2817A>G	c.(2815-2817)ttA>ttG	p.L939L	HECTD4_ENST00000550722.1_Silent_p.L1215L|HECTD4_ENST00000377560.5_Silent_p.L1189L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	939					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTTACATAATAAATCATATT	0.348																																																	0													59	57	57					12																	112686184		1829	4086	5915	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2817A>G	12.37:g.112686184T>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L1189	ENST00000430131.2	37	c.3567		12																																																																																			HECTD4	-	NULL		0.348	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		T	NM_173813		112686184	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	silent	SNP	0.836	C	C	112686184	T	C	112686184	2	2	152	1	0	0	0	0	0	0	0	1	1700	1403	49	5		5	C12orf51	12	112686184	Silent	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	4715	112686184	21165711	250	25824										
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123702952	123702952	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggtgtcttcttactttgctCatttccttgtttagatcttg	7	8	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:123702952C>G	ENST00000606320.1	-	6	1173	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E171Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E171Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E293Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	323						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACTTTGCTCATTTCCTTGT	0.408																																																	0													283	240	255					12																	123702952		2203	4300	6503	SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.967G>C	12.37:g.123702952C>G	ENSP00000475489:p.Glu323Gln		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.E171Q	ENST00000606320.1	37	c.511		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.66|18.66	3.671131|3.671131	0.67814|0.67814	.|.	.|.	ENSG00000051825|ENSG00000257076	ENST00000302349;ENST00000541076|ENST00000539336	T;T|.	0.41065|.	1.01;1.04|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.370404|.	0.25352|.	N|.	0.031291|.	T|.	0.58779|.	0.2146|.	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.52939|.	-0.8508|.	10|.	0.51188|.	T|.	0.08|.	-13.7252|-13.7252	16.2915|16.2915	0.82755|0.82755	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	171|.	Q99550|.	MPP9_HUMAN|.	Q|S	171|180	ENSP00000303597:E171Q;ENSP00000445859:E171Q|.	ENSP00000303597:E171Q|.	E|X	-|-	1|2	0|2	MPHOSPH9|RP11-546D6.2	122268905|122268905	0.942000|0.942000	0.31987|0.31987	0.009000|0.009000	0.14445|0.14445	0.069000|0.069000	0.16628|0.16628	4.302000|4.302000	0.59092|0.59092	2.444000|2.444000	0.82710|0.82710	0.555000|0.555000	0.69702|0.69702	GAG|TGA	MPHOSPH9	-	NULL		0.408	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	C			123702952	-1	no_errors	ENST00000541076	ensembl	human	known	70_37	missense	SNP	0.137	G	G	123702952	C	G	123702952	3	3	152	1	0	0	0	0	1	0	0	0	9751	835	29	1	2660	1	MPHOSPH9	12	123702952	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	11016768	123702952	10148943	251	25825										
DNAH10	196385	genome.wustl.edu	37	chr12	124359784	124359784	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	taaaaaaaatcaaggtggatGaatatggcacgcagcagccc	10	8	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:124359784G>A	ENST00000409039.3	+	46	7616	c.7591G>A	c.(7591-7593)Gaa>Aaa	p.E2531K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2531	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGGTGGATGAATATGGCAC	0.443																																																	0													29	28	28					12																	124359784		1999	4171	6170	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7591G>A	12.37:g.124359784G>A	ENSP00000386770:p.Glu2531Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.E2531K	ENST00000409039.3	37	c.7591	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	3.350	-0.132830	0.06711	.	.	ENSG00000197653	ENST00000409039	T	0.33654	1.4	5.24	5.24	0.73138	ATPase, AAA+ type, core (1);	0.368435	0.24975	U	0.034110	T	0.26011	0.0634	N	0.20807	0.61	0.49687	D	0.999818	B	0.22683	0.073	B	0.25987	0.065	T	0.07520	-1.0768	10	0.06757	T	0.87	.	19.2576	0.93952	0.0:0.0:1.0:0.0	.	2531	Q8IVF4	DYH10_HUMAN	K	2531	ENSP00000386770:E2531K	ENSP00000386770:E2531K	E	+	1	0	DNAH10	122925737	1.000000	0.71417	0.448000	0.26945	0.075000	0.17131	5.319000	0.65835	2.621000	0.88768	0.650000	0.86243	GAA	DNAH10	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124359784	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	0.999	A	A	124359784	G	A	124359784	3	1	152	1	0	0	0	0	1	0	0	0	4608	1291	45	1	7773	1	DNAH10	12	124359784	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	656832	124359784	9492111	252	25826										
SLC15A4	121260	genome.wustl.edu	37	chr12	129299439	129299439	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgaaaacgctctggccacaGaggaagaccacaaaagcaag	10	10	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr12:129299439G>A	ENST00000266771.5	-	2	762	c.723C>T	c.(721-723)ctC>ctT	p.L241L	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	241					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCTGGCCACAGAGGAAGACCA	0.517																																																	0													172	155	161					12																	129299439		2203	4300	6503	SO:0001819	synonymous_variant	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.723C>T	12.37:g.129299439G>A			A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Silent	SNP	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L241	ENST00000266771.5	37	c.723	CCDS9264.1	12																																																																																			SLC15A4	-	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.517	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A4	HGNC	protein_coding	OTTHUMT00000399663.1	G	NM_145648		129299439	-1	no_errors	ENST00000266771	ensembl	human	known	70_37	silent	SNP	0.993	A	A	129299439	G	A	129299439	2	1	152	1	0	0	0	0	0	0	0	1	14431	929	33	1		1	SLC15A4	12	129299439	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4939655	129299439	4552456	253	25827										
RNF17	56163	genome.wustl.edu	37	chr13	25444740	25444740	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccttgattctatagaaacttCtaaccagtctaaccagcata	4	11	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr13:25444740C>G	ENST00000255324.5	+	32	4362	c.4310C>G	c.(4309-4311)tCt>tGt	p.S1437C	RNF17_ENST00000339524.3_Missense_Mutation_p.S447C|RNF17_ENST00000381921.1_Missense_Mutation_p.S1395C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1437					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATAGAAACTTCTAACCAGTCT	0.413																																																	0													111	107	108					13																	25444740		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4310C>G	13.37:g.25444740C>G	ENSP00000255324:p.Ser1437Cys		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.S1437C	ENST00000255324.5	37	c.4310	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.517275	0.00151	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.22336	3.49;3.51;2.75;1.96	5.0	-1.27	0.09347	.	1.054840	0.07413	N	0.892704	T	0.07728	0.0194	N	0.04203	-0.255	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.33033	-0.9884	10	0.36615	T	0.2	0.0124	0.6765	0.00867	0.2726:0.2465:0.3153:0.1656	.	1433;447;1431;1437	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	C	1437;1395;761;447	ENSP00000255324:S1437C;ENSP00000371346:S1395C;ENSP00000388892:S761C;ENSP00000344776:S447C	ENSP00000255324:S1437C	S	+	2	0	RNF17	24342740	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.212000	0.09319	-0.173000	0.10761	-1.105000	0.02106	TCT	RNF17	-	NULL		0.413	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25444740	1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.000	G	G	25444740	C	G	25444740	3	3	152	1	0	0	0	0	1	0	0	0	13491	913	32	1	4436	1	RNF17	13	25444740	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		25444740	89725138	254	25828										
DZIP1	22873	genome.wustl.edu	37	chr13	96293740	96293740	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagctgcgaggtgaggaactCttgtgagtgcagcaagtact	14	8	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr13:96293740C>G	ENST00000376829.2	-	5	1257	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	DZIP1_ENST00000361156.3_Missense_Mutation_p.E136Q|DZIP1_ENST00000347108.3_Missense_Mutation_p.E136Q|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Missense_Mutation_p.E136Q	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	136					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGAGGAACTCTTGTGAGTGC	0.637																																																	0													80	62	68					13																	96293740		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.406G>C	13.37:g.96293740C>G	ENSP00000366025:p.Glu136Gln		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E136Q	ENST00000376829.2	37	c.406	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660107	0.47572	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.82	4.82	0.62117	.	0.100708	0.64402	D	0.000002	T	0.62624	0.2443	L	0.46157	1.445	0.40724	D	0.982681	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.985;0.988;0.993	T	0.62473	-0.6847	10	0.38643	T	0.18	-12.9267	17.9296	0.88992	0.0:1.0:0.0:0.0	.	136;136;136	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	Q	136	ENSP00000257312:E136Q;ENSP00000355018:E136Q;ENSP00000355175:E136Q;ENSP00000366025:E136Q	ENSP00000257312:E136Q	E	-	1	0	DZIP1	95091741	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	5.907000	0.69908	2.232000	0.73038	0.655000	0.94253	GAG	DZIP1	-	NULL		0.637	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	C	NM_014934		96293740	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96293740	C	G	96293740	3	3	152	1	0	0	0	0	1	0	0	0	4873	922	32	1	2273	1	DZIP1	13	96293740	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	70849000	96293740	18876138	255	25829										
OR11H12	440153	genome.wustl.edu	37	chr14	19377728	19377728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagatcttcctcttctcactCtttactacaacatatgcact	2	14	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:19377728C>T	ENST00000550708.1	+	1	207	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCTCACTCTTTACTACAA	0.423																																																	0													58	62	61					14																	19377728		2196	4293	6489	SO:0001819	synonymous_variant	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.135C>T	14.37:g.19377728C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L45	ENST00000550708.1	37	c.135	CCDS32017.1	14																																																																																			OR11H12	-	prints_GPCR_Rhodpsn		0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	C	NM_001013354		19377728	1	no_errors	ENST00000550708	ensembl	human	known	70_37	silent	SNP	0.982	T	T	19377728	C	T	19377728	2	4	152	1	0	0	0	0	0	0	0	1	10951	900	32	1		1	OR11H12	14	19377728	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		19377728	87971812	256	25830										
FSCB	84075	genome.wustl.edu	37	chr14	44974138	44974138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggagtctcctcagctggtaGagactgaacttcagcagggg	14	9	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:44974138G>A	ENST00000340446.4	-	1	2344	c.2053C>T	c.(2053-2055)Cta>Tta	p.L685L	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	685						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCTGGTAGAGACTGAACT	0.587																																																	0													32	40	37					14																	44974138		2202	4300	6502	SO:0001819	synonymous_variant	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2053C>T	14.37:g.44974138G>A			Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	NULL	p.L685	ENST00000340446.4	37	c.2053	CCDS9679.1	14																																																																																			FSCB	-	NULL		0.587	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	G	NM_032135		44974138	-1	no_errors	ENST00000340446	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44974138	G	A	44974138	2	1	152	1	0	0	0	0	0	0	0	1	6084	933	33	1		1	FSCB	14	44974138	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	25596410	44974138	62375402	257	25831										
MUDENG	55745	genome.wustl.edu	37	chr14	57740978	57740978	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcagacggtatccaactgttGaaaaacgagccagagtcttc	10	10	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:57740978G>A	ENST00000261558.3	+	2	497	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	AP5M1_ENST00000431972.2_Missense_Mutation_p.E45K	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	31					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TCCAACTGTTGAAAAACGAGC	0.348																																																	0													88	83	85					14																	57740978		2203	4300	6503	SO:0001583	missense	55745			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.91G>A	14.37:g.57740978G>A	ENSP00000261558:p.Glu31Lys		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.E31K	ENST00000261558.3	37	c.91	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.249936	0.95305	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.58652	0.34;0.32	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78846	-0.2043	10	0.87932	D	0	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	31;31	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	K	31;45	ENSP00000261558:E31K;ENSP00000390531:E45K	ENSP00000261558:E31K	E	+	1	0	MUDENG	56810731	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.378000	0.97191	2.837000	0.97791	0.591000	0.81541	GAA	AP5M1	-	NULL		0.348	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1	G	NM_018229		57740978	1	no_errors	ENST00000261558	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57740978	G	A	57740978	3	1	152	1	0	0	0	0	1	0	0	0	10006	1291	45	1	97	1	MUDENG	14	57740978	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	12766840	57740978	49608562	258	25832										
C14orf39	317761	genome.wustl.edu	37	chr14	60921816	60921816	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	taagaaaagaaagtccagggGattccttttctgtttgaact	9	6	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:60921816G>C	ENST00000321731.3	-	16	1565	c.1406C>G	c.(1405-1407)tCc>tGc	p.S469C		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	469					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAGTCCAGGGGATTCCTTTTC	0.294																																																	0													60	66	64					14																	60921816		2201	4293	6494	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1406C>G	14.37:g.60921816G>C	ENSP00000324920:p.Ser469Cys		Q08AQ4	Missense_Mutation	SNP	NULL	p.S469C	ENST00000321731.3	37	c.1406	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812159	0.70797	.	.	ENSG00000179008	ENST00000321731	T	0.35605	1.3	5.84	5.84	0.93424	.	0.094532	0.47455	D	0.000236	T	0.59059	0.2166	M	0.67953	2.075	0.39979	D	0.974896	D	0.89917	1.0	D	0.76575	0.988	T	0.57464	-0.7807	9	.	.	.	-8.7423	16.8578	0.86010	0.0:0.0:1.0:0.0	.	469	Q8N1H7	S6OS1_HUMAN	C	469	ENSP00000324920:S469C	.	S	-	2	0	C14orf39	59991569	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.598000	0.67585	2.767000	0.95098	0.561000	0.74099	TCC	C14orf39	-	NULL		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	G	NM_174978		60921816	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	0.993	C	C	60921816	G	C	60921816	3	2	152	1	0	0	0	0	1	0	0	0	1776	1174	41	1	369	1	C14orf39	14	60921816	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3180838	60921816	46427724	259	25833										
SYNE2	23224	genome.wustl.edu	37	chr14	64593336	64593336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acgctggctcttgagttgaaGaaactttatttagcgctaag	10	7	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:64593336G>A	ENST00000344113.4	+	73	13940	c.13728G>A	c.(13726-13728)aaG>aaA	p.K4576K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.K1210K|SYNE2_ENST00000358025.3_Silent_p.K4576K|SYNE2_ENST00000394768.2_Silent_p.K961K|SYNE2_ENST00000554584.1_Silent_p.K4527K|SYNE2_ENST00000357395.3_Silent_p.K961K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4576					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGAGTTGAAGAAACTTTATT	0.488																																																	0													131	135	134					14																	64593336		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13728G>A	14.37:g.64593336G>A			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K4576	ENST00000344113.4	37	c.13728	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64593336	1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64593336	G	A	64593336	2	1	152	1	0	0	0	0	0	0	0	1	15476	933	33	1		1	SYNE2	14	64593336	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3671520	64593336	42756204	260	25834										
PLEKHH1	57475	genome.wustl.edu	37	chr14	68042668	68042668	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcccactgcaccctggtgatCcaccccacagagcacagccc	7	20	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:68042668C>G	ENST00000329153.5	+	16	2430	c.2298C>G	c.(2296-2298)atC>atG	p.I766M	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	766	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCCTGGTGATCCACCCCACAG	0.567																																																	0													70	75	73					14																	68042668		2044	4183	6227	SO:0001583	missense	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2298C>G	14.37:g.68042668C>G	ENSP00000330278:p.Ile766Met		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.I766M	ENST00000329153.5	37	c.2298	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100860	0.56183	.	.	ENSG00000054690	ENST00000329153	T	0.34472	1.36	4.71	1.9	0.25705	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.055341	0.64402	D	0.000001	T	0.50480	0.1618	M	0.73217	2.22	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	T	0.50346	-0.8839	10	0.87932	D	0	.	7.1376	0.25537	0.0:0.6117:0.0:0.3883	.	766	Q9ULM0	PKHH1_HUMAN	M	766	ENSP00000330278:I766M	ENSP00000330278:I766M	I	+	3	3	PLEKHH1	67112421	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	0.543000	0.23237	0.702000	0.31825	0.549000	0.68633	ATC	PLEKHH1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.567	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	C	XM_031054		68042668	1	no_errors	ENST00000329153	ensembl	human	known	70_37	missense	SNP	0.998	G	G	68042668	C	G	68042668	3	3	152	1	0	0	0	0	1	0	0	0	12100	845	30	1	2356	1	PLEKHH1	14	68042668	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3449332	68042668	39306872	261	25835										
NUMB	8650	genome.wustl.edu	37	chr14	73759577	73759577	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctatcgtctggtcaactatGaggtcctagaaaatacgaca	8	9	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:73759577G>A	ENST00000355058.3	-	8	593	c.315C>T	c.(313-315)ctC>ctT	p.L105L	NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000454166.4_Silent_p.L105L|NUMB_ENST00000555738.2_Silent_p.L94L|NUMB_ENST00000544991.3_Silent_p.L105L|NUMB_ENST00000555394.1_Silent_p.L105L|NUMB_ENST00000554546.1_Silent_p.L94L|NUMB_ENST00000560335.1_Silent_p.L105L|NUMB_ENST00000555238.1_Silent_p.L105L|NUMB_ENST00000356296.4_Silent_p.L105L|NUMB_ENST00000554521.2_Silent_p.L94L|NUMB_ENST00000535282.1_Silent_p.L94L|NUMB_ENST00000359560.3_Silent_p.L94L|NUMB_ENST00000559312.1_Silent_p.L105L|NUMB_ENST00000557597.1_Silent_p.L94L			P49757	NUMB_HUMAN	numb homolog (Drosophila)	105	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGTCAACTATGAGGTCCTAGA	0.428																																																	0													83	79	80					14																	73759577		2203	4300	6503	SO:0001819	synonymous_variant	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.315C>T	14.37:g.73759577G>A			B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.L105	ENST00000355058.3	37	c.315	CCDS32116.1	14																																																																																			NUMB	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom		0.428	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	G			73759577	-1	no_errors	ENST00000355058	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73759577	G	A	73759577	2	1	152	1	0	0	0	0	0	0	0	1	10775	1277	45	1		1	NUMB	14	73759577	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5716909	73759577	33589963	262	25836										
SERPINA5	5104	genome.wustl.edu	37	chr14	95053975	95053975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agcacaaagatgcagatcctGgagggcctgggcctcaacct	12	12	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:95053975G>A	ENST00000554866.1	+	2	390	c.276G>A	c.(274-276)ctG>ctA	p.L92L	SERPINA5_ENST00000553780.1_Silent_p.L92L|SERPINA5_ENST00000554276.1_Silent_p.L92L|SERPINA5_ENST00000329597.7_Silent_p.L92L			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	92					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGATCCTGGAGGGCCTGG	0.597																																																	0													25	27	26					14																	95053975		2203	4300	6503	SO:0001819	synonymous_variant	5104			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.276G>A	14.37:g.95053975G>A			Q07616|Q9UG30	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L92	ENST00000554866.1	37	c.276	CCDS9928.1	14																																																																																			SERPINA5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.597	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	HGNC	protein_coding	OTTHUMT00000410726.1	G	NM_000624		95053975	1	no_errors	ENST00000329597	ensembl	human	known	70_37	silent	SNP	0.031	A	A	95053975	G	A	95053975	2	1	152	1	0	0	0	0	0	0	0	1	14122	1335	47	4		4	SERPINA5	14	95053975	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	21294398	95053975	12295565	263	25837										
SERPINA3	12	genome.wustl.edu	37	chr14	95081043	95081043	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccgccttggccttcctgtctCtgggggcccataataccacc	9	17	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:95081043C>T	ENST00000467132.1	+	2	1413	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	SERPINA3_ENST00000393080.4_Silent_p.L89L|SERPINA3_ENST00000482740.1_5'Flank|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Silent_p.L89L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	89					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTTCCTGTCTCTGGGGGCCCA	0.527																																																	0													82	81	81					14																	95081043		2203	4300	6503	SO:0001819	synonymous_variant	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.265C>T	14.37:g.95081043C>T			B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L114	ENST00000467132.1	37	c.340	CCDS32150.1	14																																																																																			SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.527	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	C	NM_001085		95081043	1	no_errors	ENST00000553947	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95081043	C	T	95081043	2	4	152	1	0	0	0	0	0	0	0	1	14120	912	32	1		1	SERPINA3	14	95081043	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	27068	95081043	12268497	264	25838										
RTL1	388015	genome.wustl.edu	37	chr14	101348269	101348269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	attattcagagaggctagatCctctgtgttgagaaggatca	11	6	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:101348269C>T	ENST00000534062.1	-	1	2915	c.2857G>A	c.(2857-2859)Gat>Aat	p.D953N	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	953					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GAGGCTAGATCCTCTGTGTTG	0.527																																																	0													93	93	93					14																	101348269		1568	3582	5150	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2857G>A	14.37:g.101348269C>T	ENSP00000435342:p.Asp953Asn		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.D953N	ENST00000534062.1	37	c.2857	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200234	0.38905	.	.	ENSG00000254656	ENST00000534062	T	0.39787	1.06	3.39	3.39	0.38822	.	0.000000	0.35677	N	0.003050	T	0.20659	0.0497	N	0.17082	0.46	0.27674	N	0.946678	B	0.32781	0.384	B	0.33196	0.159	T	0.22871	-1.0204	10	0.02654	T	1	.	8.9291	0.35659	0.0:0.7713:0.2287:0.0	.	953	E9PKS8	.	N	953	ENSP00000435342:D953N	ENSP00000435342:D953N	D	-	1	0	RTL1	100418022	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.272000	0.51616	2.210000	0.71456	0.555000	0.69702	GAT	RTL1	-	NULL		0.527	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101348269	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101348269	C	T	101348269	3	4	152	1	0	0	0	0	1	0	0	0	13754	855	30	1	1223	1	RTL1	14	101348269	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	6267226	101348269	6001271	265	25839										
CDC42BPB	81693	genome.wustl.edu	37	chr14	103400107	103400107	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggagctggctcctgtgggggGagttggggctcggtgggccg	23	8	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:103400107G>C	ENST00000299155.5	+	0	1907				CDC42BPB_ENST00000361246.2_Missense_Mutation_p.S1693C|RP11-365N19.2_ENST00000560931.1_RNA	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGTGGGGGGAGTTGGGGCT	0.657																																																	0													38	42	41					14																	103400107		2192	4289	6481	SO:0001628	intergenic_variant	9578			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7			14.37:g.103400107G>C			Q6UX83	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S1693C	ENST00000299155.5	37	c.5078	CCDS9977.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562332	0.86335	.	.	ENSG00000198752	ENST00000361246	T	0.77098	-1.07	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90572	0.4523	10	0.87932	D	0	.	18.1013	0.89505	0.0:0.0:1.0:0.0	.	1693	Q9Y5S2	MRCKB_HUMAN	C	1693	ENSP00000355237:S1693C	ENSP00000355237:S1693C	S	-	2	0	CDC42BPB	102469860	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.395000	0.97266	2.246000	0.74042	0.462000	0.41574	TCC	CDC42BPB	-	NULL		0.657	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415704.1	G			103400107	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103400107	G	C	103400107	1	2	152	0	1	0	0	0	0	0	0	0	3078	1174	41	1		1	CDC42BPB	14	103400107	IGR	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2051838	103400107	3949433	266	25840										
CDC42BPB	81693	genome.wustl.edu	37	chr14	103400155	103400155	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggagctattcgatggagttGagtgtttggtggagtccgaa	16	4	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:103400155G>C	ENST00000299155.5	+	0	1907				CDC42BPB_ENST00000361246.2_Nonsense_Mutation_p.S1677*|RP11-365N19.2_ENST00000560931.1_RNA	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGATGGAGTTGAGTGTTTGGT	0.657																																																	0													115	109	111					14																	103400155		2195	4290	6485	SO:0001628	intergenic_variant	9578			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7			14.37:g.103400155G>C			Q6UX83	Nonsense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S1677*	ENST00000299155.5	37	c.5030	CCDS9977.1	14	.	.	.	.	.	.	.	.	.	.	G	48	14.087172	0.99778	.	.	ENSG00000198752	ENST00000361246	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.8658	0.88794	0.0:0.0:1.0:0.0	.	.	.	.	X	1677	.	ENSP00000355237:S1677X	S	-	2	0	CDC42BPB	102469908	1.000000	0.71417	0.932000	0.37286	0.991000	0.79684	9.395000	0.97266	2.188000	0.69820	0.462000	0.41574	TCA	CDC42BPB	-	NULL		0.657	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415704.1	G			103400155	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	103400155	G	C	103400155	1	2	152	0	1	0	0	0	0	0	0	0	3078	1294	45	1		1	CDC42BPB	14	103400155	IGR	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	48	103400155	3949385	267	25841										
AHNAK2	113146	genome.wustl.edu	37	chr14	105413073	105413073	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttgagatccactttgggcatCttgaaactgggcatctgcac	10	10	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr14:105413073C>G	ENST00000333244.5	-	7	8834	c.8715G>C	c.(8713-8715)aaG>aaC	p.K2905N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2905						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGCATCTTGAAACTGG	0.647																																																	0													157	171	167					14																	105413073		1870	4078	5948	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8715G>C	14.37:g.105413073C>G	ENSP00000353114:p.Lys2905Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K2905N	ENST00000333244.5	37	c.8715	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	13.82	2.351928	0.41700	.	.	ENSG00000185567	ENST00000333244	T	0.01379	4.96	4.24	2.01	0.26516	.	.	.	.	.	T	0.05593	0.0147	M	0.78916	2.43	0.23204	N	0.998121	D	0.65815	0.995	D	0.63877	0.919	T	0.32561	-0.9902	9	0.23302	T	0.38	.	8.0338	0.30480	0.0:0.6583:0.0:0.3417	.	2905	Q8IVF2	AHNK2_HUMAN	N	2905	ENSP00000353114:K2905N	ENSP00000353114:K2905N	K	-	3	2	AHNAK2	104484118	0.192000	0.23301	0.976000	0.42696	0.458000	0.32498	0.162000	0.16501	0.777000	0.33496	0.485000	0.47835	AAG	AHNAK2	-	NULL		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105413073	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.919	G	G	105413073	C	G	105413073	3	3	152	1	0	0	0	0	1	0	0	0	415	912	32	1	8676	1	AHNAK2	14	105413073	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2012918	105413073	1936467	268	25842										
ACTC1	70	genome.wustl.edu	37	chr15	35085533	35085533	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaaggtctcaaacatgatctGagtcatcttctcccggttgg	10	10	5	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:35085533G>A	ENST00000290378.4	-	3	1022	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	123					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AACATGATCTGAGTCATCTTC	0.587																																																	0													109	104	106					15																	35085533		2201	4298	6499	SO:0001587	stop_gained	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.367C>T	15.37:g.35085533G>A	ENSP00000290378:p.Gln123*		P04270	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Q123*	ENST00000290378.4	37	c.367	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	G	45	11.280256	0.99541	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	.	.	.	5.63	5.63	0.86233	.	0.000000	0.51477	U	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	.	.	.	X	123;88	.	ENSP00000290378:Q123X	Q	-	1	0	ACTC1	32872825	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	CAG	ACTC1	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.587	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	G	NM_005159		35085533	-1	no_errors	ENST00000290378	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	35085533	G	A	35085533	4	1	152	1	0	0	0	0	0	1	0	0	195	1299	45	1	786	1	ACTC1	15	35085533	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		35085533	67445859	269	25843										
MAP1A	4130	genome.wustl.edu	37	chr15	43813757	43813757	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cctactagagccccccacctCagggggcttcctcaagctct	8	18	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:43813757C>T	ENST00000300231.5	+	4	536	c.86C>T	c.(85-87)tCa>tTa	p.S29L	MAP1A_ENST00000399453.1_Missense_Mutation_p.S29L|MAP1A_ENST00000382031.1_Missense_Mutation_p.S267L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	29					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCCCACCTCAGGGGGCTTC	0.577																																																	0													72	75	74					15																	43813757		2116	4237	6353	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.86C>T	15.37:g.43813757C>T	ENSP00000300231:p.Ser29Leu		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.S29L	ENST00000300231.5	37	c.86	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384577	0.61845	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.03889	3.77;3.77;3.77	4.92	4.92	0.64577	.	.	.	.	.	T	0.24812	0.0602	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00819	-1.1553	9	0.87932	D	0	-11.1838	18.6574	0.91459	0.0:1.0:0.0:0.0	.	29	P78559	MAP1A_HUMAN	L	267;29;29;29	ENSP00000371462:S267L;ENSP00000382380:S29L;ENSP00000300231:S29L	ENSP00000300231:S29L	S	+	2	0	MAP1A	41601049	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.720000	0.93068	0.561000	0.74099	TCA	MAP1A	-	NULL		0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43813757	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43813757	C	T	43813757	3	4	152	1	0	0	0	0	1	0	0	0	9250	838	29	1	88	1	MAP1A	15	43813757	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8728224	43813757	58717635	270	25844										
MAP1A	4130	genome.wustl.edu	37	chr15	43815050	43815050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acctgagctcaagaagatttCcaagccagacctaaagccct	7	13	1	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:43815050C>G	ENST00000300231.5	+	4	1829	c.1379C>G	c.(1378-1380)tCc>tGc	p.S460C	MAP1A_ENST00000399453.1_Missense_Mutation_p.S460C|MAP1A_ENST00000382031.1_Missense_Mutation_p.S698C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	460	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGAAGATTTCCAAGCCAGAC	0.478																																																	0													39	38	38					15																	43815050		1922	4126	6048	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1379C>G	15.37:g.43815050C>G	ENSP00000300231:p.Ser460Cys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.S460C	ENST00000300231.5	37	c.1379	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532415	0.27387	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.01584	4.76;4.75;4.75	5.5	4.58	0.56647	.	0.000000	0.33610	N	0.004728	T	0.03348	0.0097	M	0.73962	2.25	0.34843	D	0.740859	P	0.42941	0.794	B	0.39027	0.288	T	0.33292	-0.9874	10	0.56958	D	0.05	-6.9202	10.0614	0.42277	0.0:0.7905:0.1386:0.0709	.	460	P78559	MAP1A_HUMAN	C	698;460;460;460	ENSP00000371462:S698C;ENSP00000382380:S460C;ENSP00000300231:S460C	ENSP00000300231:S460C	S	+	2	0	MAP1A	41602342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.931000	0.70113	1.563000	0.49615	0.650000	0.86243	TCC	MAP1A	-	NULL		0.478	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43815050	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.971	G	G	43815050	C	G	43815050	3	3	152	1	0	0	0	0	1	0	0	0	9250	855	30	1	1381	1	MAP1A	15	43815050	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1293	43815050	58716342	271	25845										
MAP1A	4130	genome.wustl.edu	37	chr15	43815251	43815251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagggagctggtcctatcctCaccagaggacctcacacagg	11	14	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:43815251C>T	ENST00000300231.5	+	4	2030	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	MAP1A_ENST00000399453.1_Missense_Mutation_p.S527L|MAP1A_ENST00000382031.1_Missense_Mutation_p.S765L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	527	9 X 3 AA repeats of K-K-[DE].				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTCCTATCCTCACCAGAGGAC	0.572																																																	0																																										SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1580C>T	15.37:g.43815251C>T	ENSP00000300231:p.Ser527Leu		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.S527L	ENST00000300231.5	37	c.1580	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243333	0.58995	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.49139	0.79;0.79;0.79	5.39	5.39	0.77823	.	0.000000	0.27406	N	0.019519	T	0.71517	0.3349	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73764	-0.3880	10	0.72032	D	0.01	-12.9988	19.3562	0.94414	0.0:1.0:0.0:0.0	.	527	P78559	MAP1A_HUMAN	L	765;527;527;527	ENSP00000371462:S765L;ENSP00000382380:S527L;ENSP00000300231:S527L	ENSP00000300231:S527L	S	+	2	0	MAP1A	41602543	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.869000	0.69613	2.804000	0.96469	0.655000	0.94253	TCA	MAP1A	-	NULL		0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43815251	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43815251	C	T	43815251	3	4	152	1	0	0	0	0	1	0	0	0	9250	838	29	1	1582	1	MAP1A	15	43815251	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	201	43815251	58716141	272	25846										
SLC12A1	6557	genome.wustl.edu	37	chr15	48584057	48584057	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcaacattaggccaaacaaaGagaggtatgaaatatttaac	7	6	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:48584057G>A	ENST00000558405.1	+	23	2970	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	SLC12A1_ENST00000396577.3_Missense_Mutation_p.E986K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E986K			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	986					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCCAAACAAAGAGAGGTATGA	0.323																																																	0													51	50	50					15																	48584057		2194	4290	6484	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2956G>A	15.37:g.48584057G>A	ENSP00000453409:p.Glu986Lys		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.E986K	ENST00000558405.1	37	c.2956	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531025	0.64972	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.85702	-2.02;-2.02	5.44	5.44	0.79542	.	0.057932	0.64402	D	0.000001	D	0.83843	0.5342	L	0.45228	1.405	0.80722	D	1	P;P	0.47841	0.899;0.901	B;P	0.45681	0.421;0.49	T	0.82394	-0.0479	10	0.30854	T	0.27	.	18.8581	0.92262	0.0:0.0:1.0:0.0	.	986;986	E9PDW4;Q13621	.;S12A1_HUMAN	K	986	ENSP00000370381:E986K;ENSP00000379822:E986K	ENSP00000370381:E986K	E	+	1	0	SLC12A1	46371349	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.203000	0.58453	2.545000	0.85829	0.655000	0.94253	GAG	SLC12A1	-	tigrfam_Na/K/Cl_cotransptS		0.323	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	G			48584057	1	no_errors	ENST00000380993	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48584057	G	A	48584057	3	1	152	1	0	0	0	0	1	0	0	0	14412	943	33	1	3146	1	SLC12A1	15	48584057	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4768806	48584057	53947335	273	25847										
ATP8B4	79895	genome.wustl.edu	37	chr15	50152539	50152539	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tagctcgcatattttttccaGatgtgataagctctccatag	7	9	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:50152539G>C	ENST00000284509.6	-	28	3572	c.3431C>G	c.(3430-3432)tCt>tGt	p.S1144C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1144C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1144						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTTTTCCAGATGTGATAAG	0.458																																																	0													143	133	136					15																	50152539		2196	4295	6491	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3431C>G	15.37:g.50152539G>C	ENSP00000284509:p.Ser1144Cys		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1144C	ENST00000284509.6	37	c.3431	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000104043	ENST00000284509	T	0.41758	0.99	5.48	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.88704	2.975	0.44677	D	0.997665	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76277	-0.3018	10	0.87932	D	0	.	14.0001	0.64429	0.0:0.1529:0.8471:0.0	.	222;1144	Q6PG43;Q8TF62	.;AT8B4_HUMAN	C	1144	ENSP00000284509:S1144C	ENSP00000284509:S1144C	S	-	2	0	ATP8B4	47939831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.865000	0.92300	1.291000	0.44653	0.455000	0.32223	TCT	ATP8B4	-	NULL		0.458	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	G	NM_024837		50152539	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50152539	G	C	50152539	3	2	152	1	0	0	0	0	1	0	0	0	1198	942	33	1	151	1	ATP8B4	15	50152539	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1568482	50152539	52378853	274	25848										
USP8	9101	genome.wustl.edu	37	chr15	50776513	50776513	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccagaaagtggaattctaagGacaggaacttttagagagga	12	5	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:50776513G>A	ENST00000396444.3	+	12	2183	c.1845G>A	c.(1843-1845)agG>agA	p.R615R	USP8_ENST00000307179.4_Silent_p.R615R|USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Silent_p.R615R	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	615					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAATTCTAAGGACAGGAACTT	0.308																																																	0													61	65	64					15																	50776513		2196	4289	6485	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1845G>A	15.37:g.50776513G>A			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.R615	ENST00000396444.3	37	c.1845	CCDS10137.1	15																																																																																			USP8	-	NULL		0.308	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	G	NM_005154		50776513	1	no_errors	ENST00000307179	ensembl	human	known	70_37	silent	SNP	0.999	A	A	50776513	G	A	50776513	2	1	152	1	0	0	0	0	0	0	0	1	17120	1165	41	1		1	USP8	15	50776513	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	623974	50776513	51754879	275	25849										
RORA	6095	genome.wustl.edu	37	chr15	60803666	60803666	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggtcgtcgtgaagttccgtCagcccgttggccgagatgtt	14	10	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:60803666C>T	ENST00000335670.6	-	5	679	c.579G>A	c.(577-579)ctG>ctA	p.L193L	RORA_ENST00000449337.2_Silent_p.L138L|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RORA_ENST00000261523.5_Silent_p.L226L|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Silent_p.L218L	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	193	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAAGTTCCGTCAGCCCGTTGG	0.607																																																	0													195	142	160					15																	60803666		2203	4300	6503	SO:0001819	synonymous_variant	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.579G>A	15.37:g.60803666C>T			P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.L226	ENST00000335670.6	37	c.678	CCDS10177.1	15																																																																																			RORA	-	NULL		0.607	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2	C			60803666	-1	no_errors	ENST00000261523	ensembl	human	known	70_37	silent	SNP	0.940	T	T	60803666	C	T	60803666	2	4	152	1	0	0	0	0	0	0	0	1	13558	813	29	1		1	RORA	15	60803666	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	10027153	60803666	41727726	276	25850										
DPP8	54878	genome.wustl.edu	37	chr15	65744405	65744405	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtgtatcctgtatcatagaaGatccacagagtgactggggc	12	8	1	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:65744405G>C	ENST00000341861.5	-	18	3935	c.2355C>G	c.(2353-2355)atC>atG	p.I785M	DPP8_ENST00000321118.7_Missense_Mutation_p.I736M|DPP8_ENST00000339244.5_Missense_Mutation_p.I612M|DPP8_ENST00000358939.4_Missense_Mutation_p.I669M|DPP8_ENST00000300141.6_Missense_Mutation_p.I769M|DPP8_ENST00000559233.1_Missense_Mutation_p.I785M|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000321147.6_Missense_Mutation_p.I734M	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	785					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TATCATAGAAGATCCACAGAG	0.473																																																	0													144	136	139					15																	65744405		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2355C>G	15.37:g.65744405G>C	ENSP00000339208:p.Ile785Met		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.I785M	ENST00000341861.5	37	c.2355	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802620	0.31869	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.42	2.1	0.27182	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.070597	0.64402	D	0.000018	T	0.12390	0.0301	N	0.08118	0	0.38119	D	0.937783	B;B;B;B;B;B	0.15141	0.012;0.001;0.0;0.009;0.003;0.001	B;B;B;B;B;B	0.16289	0.015;0.012;0.004;0.015;0.004;0.007	T	0.08659	-1.0711	10	0.33141	T	0.24	-5.8214	3.4589	0.07526	0.3321:0.0:0.4784:0.1896	.	612;736;769;669;734;785	C9JSG1;Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;.;DPP8_HUMAN	M	785;669;769;734;736;612	ENSP00000339208:I785M;ENSP00000351817:I669M;ENSP00000300141:I769M;ENSP00000318111:I734M;ENSP00000316373:I736M;ENSP00000341230:I612M	ENSP00000300141:I769M	I	-	3	3	DPP8	63531458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.901000	0.39838	0.653000	0.30826	-0.311000	0.09066	ATC	DPP8	-	pfam_Peptidase_S9,pfam_X-Pro-like_dom		0.473	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65744405	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65744405	G	C	65744405	3	2	152	1	0	0	0	0	1	0	0	0	4742	932	33	1	353	1	DPP8	15	65744405	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4940739	65744405	36786987	277	25851										
DENND4A	10260	genome.wustl.edu	37	chr15	65983274	65983274	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttttgctgctgttcagtctCagcaaccaaaagagagaggg	11	8	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:65983274C>T	ENST00000431932.2	-	22	3734	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K	DENND4A_ENST00000567323.1_5'Flank|DENND4A_ENST00000443035.3_Missense_Mutation_p.E1219K	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1176					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGTTCAGTCTCAGCAACCAAA	0.413																																																	0													64	57	59					15																	65983274		1892	4130	6022	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3526G>A	15.37:g.65983274C>T	ENSP00000396830:p.Glu1176Lys		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.E1219K	ENST00000431932.2	37	c.3655	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.219630	0.95139	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.10668	2.85;2.87	5.61	5.61	0.85477	.	0.757333	0.12573	N	0.457151	T	0.29749	0.0743	M	0.66939	2.045	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.54759	0.76;0.696	T	0.01500	-1.1339	10	0.87932	D	0	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	1219;1176	E7EPL3;Q7Z401	.;MYCPP_HUMAN	K	1219;1176	ENSP00000391167:E1219K;ENSP00000396830:E1176K	ENSP00000396830:E1176K	E	-	1	0	DENND4A	63770328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.142000	0.77339	2.802000	0.96397	0.655000	0.94253	GAG	DENND4A	-	NULL		0.413	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		65983274	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65983274	C	T	65983274	3	4	152	1	0	0	0	0	1	0	0	0	4443	835	29	1	2109	1	DENND4A	15	65983274	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	238869	65983274	36548118	278	25852										
ITGA11	22801	genome.wustl.edu	37	chr15	68624304	68624304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caccacgtcattgtaggaatCctggttgaggtctcgaactg	11	10	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:68624304C>T	ENST00000315757.7	-	14	1749	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N	ITGA11_ENST00000423218.2_Missense_Mutation_p.D555N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	555					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TTGTAGGAATCCTGGTTGAGG	0.537																																																	0													63	61	62					15																	68624304		1976	4158	6134	SO:0001583	missense	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1663G>A	15.37:g.68624304C>T	ENSP00000327290:p.Asp555Asn		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.D555N	ENST00000315757.7	37	c.1663	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459963	0.84317	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	D;D	0.93488	-3.23;-3.23	4.67	4.67	0.58626	.	0.102837	0.64402	D	0.000005	D	0.97266	0.9106	H	0.94542	3.55	0.52099	D	0.99994	D;P	0.55172	0.97;0.933	P;P	0.59948	0.847;0.866	D	0.98616	1.0665	10	0.87932	D	0	.	16.6017	0.84817	0.0:1.0:0.0:0.0	.	555;555	A8K8T0;Q9UKX5	.;ITA11_HUMAN	N	555;555;190;555	ENSP00000327290:D555N;ENSP00000403392:D555N	ENSP00000327290:D555N	D	-	1	0	ITGA11	66411358	1.000000	0.71417	0.897000	0.35233	0.300000	0.27592	7.422000	0.80217	2.152000	0.67230	0.456000	0.33151	GAT	ITGA11	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.537	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		C	NM_012211		68624304	-1	no_errors	ENST00000315757	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68624304	C	T	68624304	3	4	152	1	0	0	0	0	1	0	0	0	7894	855	30	1	1971	1	ITGA11	15	68624304	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2641030	68624304	33907088	279	25853										
ITGA11	22801	genome.wustl.edu	37	chr15	68649528	68649528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgccgtccgggtctctgttCctcctctctgctcaatgtgg	10	14	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:68649528C>T	ENST00000315757.7	-	7	796	c.710G>A	c.(709-711)gGa>gAa	p.G237E	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000423218.2_Missense_Mutation_p.G237E	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	237	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGTCTCTGTTCCTCCTCTCTG	0.423																																																	0													82	81	81					15																	68649528		1926	4138	6064	SO:0001583	missense	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.710G>A	15.37:g.68649528C>T	ENSP00000327290:p.Gly237Glu		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G237E	ENST00000315757.7	37	c.710	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.076930	0.94000	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.61510	0.1;0.1	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84157	0.0426	10	0.52906	T	0.07	.	17.5009	0.87731	0.0:1.0:0.0:0.0	.	237;237	A8K8T0;Q9UKX5	.;ITA11_HUMAN	E	237	ENSP00000327290:G237E;ENSP00000403392:G237E	ENSP00000327290:G237E	G	-	2	0	ITGA11	66436582	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	7.790000	0.85794	2.368000	0.80403	0.561000	0.74099	GGA	ITGA11	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.423	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		C	NM_012211		68649528	-1	no_errors	ENST00000315757	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68649528	C	T	68649528	3	4	152	1	0	0	0	0	1	0	0	0	7894	855	30	1	2952	1	ITGA11	15	68649528	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	25224	68649528	33881864	280	25854										
FES	2242	genome.wustl.edu	37	chr15	91437206	91437206	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gacgtgtggagctttggcatCttgctctgggagaccttcag	14	9	3	1	rs55808877	byFrequency	TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr15:91437206C>T	ENST00000328850.3	+	18	2386	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	FES_ENST00000414248.2_Silent_p.I620I|FES_ENST00000394302.1_Silent_p.I607I|FES_ENST00000450438.2_Silent_p.I620I|FES_ENST00000444422.2_Silent_p.I678I|FES_ENST00000394300.3_Silent_p.I690I	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	748	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTTTGGCATCTTGCTCTGGG	0.627																																																	0								C	,,,	1,4395	2.1+/-5.4	0,1,2197	169	176	174		2070,2034,1860,2244	4.4	1	15	dbSNP_129	174	10,8586	7.1+/-27.0	0,10,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FES	NM_001143783.1,NM_001143784.1,NM_001143785.1,NM_002005.3	,,,	0,11,6485	TT,TC,CC		0.1163,0.0227,0.0847	,,,	690/765,678/753,620/695,748/823	91437206	11,12981	2198	4298	6496	SO:0001819	synonymous_variant	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2244C>T	15.37:g.91437206C>T			B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.I748	ENST00000328850.3	37	c.2244	CCDS10365.1	15																																																																																			FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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		0.627	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	C	NM_002005		91437206	1	no_errors	ENST00000328850	ensembl	human	known	70_37	silent	SNP	1.000	T	T	91437206	C	T	91437206	2	4	152	1	0	0	0	0	0	0	0	1	5838	903	32	1		1	FES	15	91437206	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	22787678	91437206	11094186	281	25855										
NARFL	64428	genome.wustl.edu	37	chr16	787284	787284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gccgctgcacgccaggcagtCgtttagcgagaccttggcct	13	14	0	1	rs376966046		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:787284C>T	ENST00000251588.2	-	3	224	c.208G>A	c.(208-210)Gac>Aac	p.D70N	NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.D70N|NARFL_ENST00000540986.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	70					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCCAGGCAGTCGTTTAGCGAG	0.617																																																	0								C	ASN/ASP	1,4399	2.1+/-5.4	0,1,2199	123	112	116		208	4.7	0.9	16		116	0,8598		0,0,4299	no	missense	NARFL	NM_022493.1	23	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	70/477	787284	1,12997	2200	4299	6499	SO:0001583	missense	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.208G>A	16.37:g.787284C>T	ENSP00000251588:p.Asp70Asn		A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.D70N	ENST00000251588.2	37	c.208	CCDS10425.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957778	0.73902	2.27E-4	0.0	ENSG00000103245	ENST00000251588;ENST00000301694	T;T	0.55588	0.51;0.51	4.68	4.68	0.58851	Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.85792	0.1368	10	0.48119	T	0.1	-13.1932	16.5777	0.84705	0.0:1.0:0.0:0.0	.	70;70;70	B4DT78;B4DEE7;Q9H6Q4	.;.;NARFL_HUMAN	N	70	ENSP00000251588:D70N;ENSP00000301694:D70N	ENSP00000251588:D70N	D	-	1	0	NARFL	727285	1.000000	0.71417	0.919000	0.36401	0.025000	0.11179	7.411000	0.80078	2.179000	0.69175	0.511000	0.50034	GAC	NARFL	-	superfamily_Fe_hydrogenase		0.617	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		787284	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	missense	SNP	1.000	T	T	787284	C	T	787284	3	4	152	1	0	0	0	0	1	0	0	0	10191	884	31	1	1258	1	NARFL	16	787284	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		787284	89567469	282	25856										
UNKL	64718	genome.wustl.edu	37	chr16	1463963	1463963	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgcggcgccgctggttgagGaagtgccagtggaagcaggt	18	9	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:1463963G>A	ENST00000389221.4	-	2	170	c.171C>T	c.(169-171)ttC>ttT	p.F57F	UNKL_ENST00000301712.5_Silent_p.F57F|LA16c-312E8.2_ENST00000568554.1_RNA|UNKL_ENST00000397462.1_Silent_p.F57F|UNKL_ENST00000508903.2_Silent_p.F57F|UNKL_ENST00000503648.1_5'UTR	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	57					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCTGGTTGAGGAAGTGCCAGT	0.627											OREG0023546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18	16	17					16																	1463963		2109	4146	6255	SO:0001819	synonymous_variant	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.171C>T	16.37:g.1463963G>A		596	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	NULL	p.S42F	ENST00000389221.4	37	c.125	CCDS53981.1	16																																																																																			UNKL	-	NULL		0.627	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		G	NM_001037125		1463963	-1	no_errors	ENST00000382757	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1463963	G	A	1463963	2	1	152	1	0	0	0	0	0	0	0	1	17032	1165	41	1		1	UNKL	16	1463963	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	676679	1463963	88890790	283	25857										
ZNF263	10127	genome.wustl.edu	37	chr16	3335110	3335110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttttggaggagcctttgcctCtggaaacagcacgagagtca	12	9	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:3335110C>T	ENST00000219069.5	+	2	1315	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	ZNF263_ENST00000573578.1_Intron|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	147					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GCCTTTGCCTCTGGAAACAGC	0.592																																																	0													76	68	71					16																	3335110		2197	4300	6497	SO:0001819	synonymous_variant	10127			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.439C>T	16.37:g.3335110C>T			B2R634|O43387|Q96H95	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L147	ENST00000219069.5	37	c.439	CCDS10499.1	16																																																																																			ZNF263	-	smart_Tscrpt_reg_SCAN		0.592	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2	C			3335110	1	no_errors	ENST00000219069	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3335110	C	T	3335110	2	4	152	1	0	0	0	0	0	0	0	1	17833	912	32	1		1	ZNF263	16	3335110	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1871147	3335110	87019643	284	25858										
NLRC3	197358	genome.wustl.edu	37	chr16	3594300	3594300	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cacgggccaccgcacacgctCcgtcatccccgatggcgttc	10	19	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:3594300C>G	ENST00000301749.7	-	0	3206				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCACACGCTCCGTCATCCCC	0.592																																																	0													72	77	75					16																	3594300		2097	4226	6323			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594300C>G			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G980A	ENST00000301749.7	37	c.2939		16	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108432	0.56291	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.76578	-1.03;-1.03;-1.03	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	M	0.90198	3.095	0.26403	N	0.976381	D	0.89917	1.0	D	0.87578	0.998	T	0.82868	-0.0244	10	0.34782	T	0.22	.	14.3517	0.66708	0.0:1.0:0.0:0.0	.	980	C9JLH9	.	A	934;905;980	ENSP00000301749:G934A;ENSP00000352039:G905A;ENSP00000414415:G980A	ENSP00000301749:G934A	G	-	2	0	NLRC3	3534301	0.998000	0.40836	0.644000	0.29465	0.201000	0.24016	5.371000	0.66150	2.769000	0.95229	0.644000	0.83932	GGA	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.592	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3594300	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	0.875	G	G	3594300	C	G	3594300	1	3	152	0	1	0	0	0	0	0	0	0	10492	855	30	1		1	NLRC3	16	3594300	RNA	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	259190	3594300	86760453	285	25859										
CORO7	79585	genome.wustl.edu	37	chr16	4410478	4410478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggccactccggggcctgtaGacccgcacacgcccatcctt	11	18	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:4410478G>A	ENST00000251166.4	-	20	2134	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V	CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000539968.1_Silent_p.V443V|CORO7_ENST00000574025.1_Silent_p.V578V|CORO7-PAM16_ENST00000572467.1_Silent_p.V663V|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Silent_p.V645V	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	663					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGGCCTGTAGACCCGCACAC	0.657																																																	0													37	41	40					16																	4410478		2193	4297	6490	SO:0001819	synonymous_variant	100529144			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1989C>T	16.37:g.4410478G>A			B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V663	ENST00000251166.4	37	c.1989	CCDS10513.1	16																																																																																			CORO7-PAM16	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	G	NM_024535		4410478	-1	no_errors	ENST00000572467	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4410478	G	A	4410478	2	1	152	1	0	0	0	0	0	0	0	1	3764	929	33	1		1	CORO7	16	4410478	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	816178	4410478	85944275	286	25860										
ZP2	7783	genome.wustl.edu	37	chr16	21215375	21215375	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gttttgagcagagttttgctGaaatgcaatttcatgccatt	9	6	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:21215375G>T	ENST00000574002.1	-	10	1430	c.948C>A	c.(946-948)ttC>ttA	p.F316L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.F316L|ZP2_ENST00000219593.4_Missense_Mutation_p.F316L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	316					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAGTTTTGCTGAAATGCAATT	0.423																																																	0													190	164	172					16																	21215375		2200	4300	6500	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.948C>A	16.37:g.21215375G>T	ENSP00000460971:p.Phe316Leu		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.F316L	ENST00000574002.1	37	c.948	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923787	0.73213	.	.	ENSG00000103310	ENST00000219593	T	0.76448	-1.02	5.97	5.97	0.96955	.	0.260506	0.34484	N	0.003934	D	0.86916	0.6048	M	0.80183	2.485	0.36470	D	0.86718	D;P;P	0.89917	1.0;0.881;0.881	D;P;P	0.91635	0.999;0.471;0.471	D	0.88407	0.3019	10	0.40728	T	0.16	-18.0346	10.7782	0.46363	0.1441:0.0:0.8559:0.0	.	316;316;316	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	L	316	ENSP00000219593:F316L	ENSP00000219593:F316L	F	-	3	2	ZP2	21122876	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.842000	0.48230	2.819000	0.97034	0.655000	0.94253	TTC	ZP2	-	NULL		0.423	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	G			21215375	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21215375	G	T	21215375	3	4	152	1	0	0	0	0	1	0	0	0	18246	1281	45	3	1333	3	ZP2	16	21215375	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	16804897	21215375	69139378	287	25861										
ZP2	7783	genome.wustl.edu	37	chr16	21215708	21215708	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agcttcagagacaccatgtaGagatgactgttaccttgcta	9	9	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:21215708G>A	ENST00000574002.1	-	9	1193	c.711C>T	c.(709-711)ctC>ctT	p.L237L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.L237L|ZP2_ENST00000219593.4_Silent_p.L237L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	237					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACACCATGTAGAGATGACTGT	0.403																																																	0													95	94	94					16																	21215708		2200	4300	6500	SO:0001819	synonymous_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.711C>T	16.37:g.21215708G>A			B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.L237	ENST00000574002.1	37	c.711	CCDS10596.1	16																																																																																			ZP2	-	NULL		0.403	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	G			21215708	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	silent	SNP	0.970	A	A	21215708	G	A	21215708	2	1	152	1	0	0	0	0	0	0	0	1	18246	929	33	1		1	ZP2	16	21215708	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	333	21215708	69139045	288	25862										
ASPHD1	253982	genome.wustl.edu	37	chr16	29912347	29912347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaggaccgcggaaggagagaGagacagcccagagtggaatg	18	7	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:29912347G>C	ENST00000308748.5	+	1	307	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	19					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GAAGGAGAGAGAGACAGCCCA	0.622																																																	0													75	72	73					16																	29912347		2182	4285	6467	SO:0001583	missense	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.55G>C	16.37:g.29912347G>C	ENSP00000311447:p.Glu19Gln		A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.E19Q	ENST00000308748.5	37	c.55	CCDS10660.1	16	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197140	0.22037	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.50813	0.73;0.73	1.34	1.34	0.21922	.	1.710450	0.03913	N	0.282270	T	0.31857	0.0810	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.06405	0.002	T	0.32508	-0.9904	10	0.87932	D	0	.	6.1093	0.20092	0.0:0.0:1.0:0.0	.	19	Q5U4P2	ASPH1_HUMAN	Q	19	ENSP00000388036:E19Q;ENSP00000311447:E19Q	ENSP00000311447:E19Q	E	+	1	0	ASPHD1	29819848	0.030000	0.19436	0.010000	0.14722	0.028000	0.11728	0.419000	0.21247	1.091000	0.41335	0.407000	0.27541	GAG	ASPHD1	-	NULL		0.622	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	G	NM_181718		29912347	1	no_errors	ENST00000308748	ensembl	human	known	70_37	missense	SNP	0.010	C	C	29912347	G	C	29912347	3	2	152	1	0	0	0	0	1	0	0	0	1055	943	33	1	57	1	ASPHD1	16	29912347	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	8696639	29912347	60442406	289	25863										
CX3CL1	6376	genome.wustl.edu	37	chr16	57416511	57416511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtggggtcagggacagagccCcaggccagagaactctctgg	16	11	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:57416511C>T	ENST00000006053.6	+	3	872	c.761C>T	c.(760-762)cCc>cTc	p.P254L	CX3CL1_ENST00000563383.1_Missense_Mutation_p.P260L|CX3CL1_ENST00000565912.1_Missense_Mutation_p.P216L	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	254	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGACAGAGCCCCAGGCCAGAG	0.677																																																	0													35	40	38					16																	57416511		2197	4300	6497	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.761C>T	16.37:g.57416511C>T	ENSP00000006053:p.Pro254Leu		O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.P254L	ENST00000006053.6	37	c.761	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	C	0.880	-0.729188	0.03135	.	.	ENSG00000006210	ENST00000006053	T	0.04406	3.63	4.3	1.04	0.20106	.	1.492050	0.05452	N	0.549628	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41574	-0.9501	10	0.87932	D	0	-25.0807	3.4528	0.07505	0.2002:0.5812:0.0:0.2187	.	254	P78423	X3CL1_HUMAN	L	254	ENSP00000006053:P254L	ENSP00000006053:P254L	P	+	2	0	CX3CL1	55974012	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.104000	0.10923	0.986000	0.38683	0.558000	0.71614	CCC	CX3CL1	-	NULL		0.677	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	C	NM_002996		57416511	1	no_errors	ENST00000006053	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57416511	C	T	57416511	3	4	152	1	0	0	0	0	1	0	0	0	4079	623	22	4	771	4	CX3CL1	16	57416511	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	27504164	57416511	32938242	290	25864										
POLR2C	5432	genome.wustl.edu	37	chr16	57496672	57496673	+	Missense_Mutation	DNP	GG	GG	AA													0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagcctaccgtgcggatcacGgagctcactgacgagaatgt							TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:57496672_57496673GG>AA	ENST00000219252.5	+	1	374_375	c.36_37GG>AA	c.(34-39)acGGag>acAAag	p.E13K	AC009052.12_ENST00000567090.1_RNA|POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	13					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TGCGGATCACGGAGCTCACTGA	0.673											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	Exception_encountered	16.37:g.57496672_57496673delinsAA	ENSP00000219252:p.Glu13Lys	1023	O15161	Silent|Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.T12|p.E13K	ENST00000219252.5	37	c.36|c.37	CCDS10782.1	16																																																																																			POLR2C	-	superfamily_DNA-dir_RNA_pol_RBP11-like		0.673	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	G	NM_032940		57496672|57496673	1	no_errors	ENST00000219252	ensembl	human	known	70_37	silent|missense	SNP	0.910|1.000	A	AA	57496673	GG	AA	57496672	3	1	152	1	0	0	0	0	1	0	0	0	12240	1103	39	2	38	2	POLR2C	16	57496672	Missense_Mutation	DNP	GG	TCGA-IR-A3LI-01A-11D-A20U-09	80161	57496672	32858081	291	25865										
CCDC135	84229	genome.wustl.edu	37	chr16	57741510	57741510	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atagctacagcacccaggatGagcacttcctgggcatcgaa	10	12	0	1	rs116685636		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:57741510G>T	ENST00000360716.3	+	8	1218	c.997G>T	c.(997-999)Gag>Tag	p.E333*	CCDC135_ENST00000336825.8_Nonsense_Mutation_p.E268*|CCDC135_ENST00000394337.4_Nonsense_Mutation_p.E333*			Q8IY82	CC135_HUMAN		333					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CACCCAGGATGAGCACTTCCT	0.567																																																	0													85	69	74					16																	57741510		2196	4300	6496	SO:0001587	stop_gained	84229																														ENST00000360716.3:c.997G>T	16.37:g.57741510G>T	ENSP00000353942:p.Glu333*		A8K943|Q8NAA0|Q9H080	Nonsense_Mutation	SNP	NULL	p.E333*	ENST00000360716.3	37	c.997	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	14.21	2.466295	0.43839	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	.	.	.	5.03	4.06	0.47325	.	0.591461	0.17583	N	0.169030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.1011	12.7872	0.57512	0.0805:0.0:0.9195:0.0	.	.	.	.	X	333;268;333	.	ENSP00000338938:E268X	E	+	1	0	CCDC135	56299011	0.985000	0.35326	0.008000	0.14137	0.020000	0.10135	3.052000	0.49893	1.092000	0.41356	0.637000	0.83480	GAG	CCDC135	-	NULL		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	G			57741510	1	no_errors	ENST00000360716	ensembl	human	known	70_37	nonsense	SNP	0.019	T	T	57741510	G	T	57741510	4	4	152	1	0	0	0	0	0	1	0	0	2774	1291	45	3	1019	3	CCDC135	16	57741510	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	244838	57741510	32613243	292	25866										
NOL3	8996	genome.wustl.edu	37	chr16	67208229	67208229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggcattggatgcactgcctGatgccgagcgcagggtgcgc	16	11	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:67208229G>C	ENST00000568146.1	+	2	210	c.157G>C	c.(157-159)Gat>Cat	p.D53H	NOL3_ENST00000268605.7_Missense_Mutation_p.D53H|KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000564053.1_Missense_Mutation_p.D115H|NOL3_ENST00000432069.2_Missense_Mutation_p.D53H			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	53	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TGCACTGCCTGATGCCGAGCG	0.716																																																	0													8	10	10					16																	67208229		2065	4164	6229	SO:0001583	missense	8996			AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.157G>C	16.37:g.67208229G>C	ENSP00000454598:p.Asp53His		B4DFL0|O60937	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.D53H	ENST00000568146.1	37	c.157	CCDS58473.1	16	.	.	.	.	.	.	.	.	.	.	g	13.01	2.109467	0.37242	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.20881	2.04;2.04	4.93	3.98	0.46160	DEATH-like (2);Caspase Recruitment (3);	0.215770	0.31897	N	0.006881	T	0.37156	0.0993	L	0.54323	1.7	0.21256	N	0.999746	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.966	T	0.09400	-1.0676	10	0.87932	D	0	-5.6303	9.2774	0.37707	0.101:0.0:0.899:0.0	.	53;115	O60936;B4DFL0	NOL3_HUMAN;.	H	53	ENSP00000399831:D53H;ENSP00000268605:D53H	ENSP00000268605:D53H	D	+	1	0	NOL3	65765730	0.981000	0.34729	0.068000	0.19968	0.025000	0.11179	3.692000	0.54727	1.092000	0.41356	-0.401000	0.06369	GAT	NOL3	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD		0.716	NOL3-003	KNOWN	basic|CCDS	protein_coding	NOL3	HGNC	protein_coding	OTTHUMT00000422746.1	G			67208229	1	no_errors	ENST00000568146	ensembl	human	known	70_37	missense	SNP	0.320	C	C	67208229	G	C	67208229	3	2	152	1	0	0	0	0	1	0	0	0	10547	1290	45	1	159	1	NOL3	16	67208229	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	9466719	67208229	23146524	293	25867										
AP1G1	164	genome.wustl.edu	37	chr16	71798269	71798269	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttactcgcaatccactctctGacttaatatccatgatagtc	4	12	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:71798269G>C	ENST00000299980.4	-	9	1343	c.902C>G	c.(901-903)tCa>tGa	p.S301*	AP1G1_ENST00000423132.2_Nonsense_Mutation_p.S304*|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.S301*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.S304*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.S324*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	301					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCCACTCTCTGACTTAATATC	0.358																																																	0													87	80	82					16																	71798269		2198	4299	6497	SO:0001587	stop_gained	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.902C>G	16.37:g.71798269G>C	ENSP00000299980:p.Ser301*		O75709|O75842|Q9UG09|Q9Y3U4	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.S324*	ENST00000299980.4	37	c.971	CCDS32480.1	16	.	.	.	.	.	.	.	.	.	.	G	46	12.748935	0.99693	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.3742	19.3307	0.94285	0.0:0.0:1.0:0.0	.	.	.	.	X	301;304;304;324;172;386	.	ENSP00000299980:S301X	S	-	2	0	AP1G1	70355770	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.560000	0.86352	0.655000	0.94253	TCA	AP1G1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu		0.358	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	G			71798269	-1	no_errors	ENST00000433195	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	71798269	G	C	71798269	4	2	152	1	0	0	0	0	0	1	0	0	732	1294	45	1	1626	1	AP1G1	16	71798269	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4590040	71798269	18556484	294	25868										
BCMO1	53630	genome.wustl.edu	37	chr16	81295871	81295871	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggaaaatcaacccacagactCtggaaaccctggagaaggta	10	10	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:81295871C>T	ENST00000258168.2	+	4	915	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	BCMO1_ENST00000564552.1_Silent_p.L152L|BCMO1_ENST00000425577.2_Silent_p.L83L	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCCACAGACTCTGGAAACCCT	0.507																																																	0													131	121	124					16																	81295871		2202	4300	6502	SO:0001819	synonymous_variant	53630																														ENST00000258168.2:c.454C>T	16.37:g.81295871C>T				Silent	SNP	pfam_Carotenoid_Oase	p.L152	ENST00000258168.2	37	c.454	CCDS10934.1	16																																																																																			BCMO1	-	pfam_Carotenoid_Oase		0.507	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	C			81295871	1	no_errors	ENST00000258168	ensembl	human	known	70_37	silent	SNP	0.970	T	T	81295871	C	T	81295871	2	4	152	1	0	0	0	0	0	0	0	1	1385	912	32	1		1	BCMO1	16	81295871	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9497602	81295871	9058882	295	25869										
SPG7	6687	genome.wustl.edu	37	chr16	89623345	89623345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ataaactatgaggacattgaGgctctcattggcccgccgcc	10	12	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:89623345G>A	ENST00000268704.2	+	17	2247	c.2232G>A	c.(2230-2232)gaG>gaA	p.E744E	SPG7_ENST00000565891.1_3'UTR	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	744					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGGACATTGAGGCTCTCATTG	0.562																																																	0													102	101	102					16																	89623345		2198	4300	6498	SO:0001819	synonymous_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.2232G>A	16.37:g.89623345G>A			O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	p.E744	ENST00000268704.2	37	c.2232	CCDS10977.1	16																																																																																			SPG7	-	pfam_Peptidase_M41,tigrfam_FtsH		0.562	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	G	NM_003119		89623345	1	no_errors	ENST00000268704	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89623345	G	A	89623345	2	1	152	1	0	0	0	0	0	0	0	1	15074	991	35	4		4	SPG7	16	89623345	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	8327474	89623345	731408	296	25870										
CDK10	8558	genome.wustl.edu	37	chr16	89762071	89762071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggccgccccagccacctccGagggccagagcaagcgctgt	14	17	0	1	rs376294252		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr16:89762071G>A	ENST00000353379.7	+	13	1097	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	CDK10_ENST00000505473.1_Intron|CDK10_ENST00000331006.8_Missense_Mutation_p.E305K	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	352					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGCCACCTCCGAGGGCCAGAG	0.662																																																	0								G	LYS/GLU,LYS/GLU,,LYS/GLU	0,4388		0,0,2194	23	29	27		823,841,,1054	4	0.2	16		27	2,8594		0,2,4296	no	missense,missense,intron,missense	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	56,56,,56	0,2,6490	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,,benign	275/284,281/290,,352/361	89762071	2,12982	2194	4298	6492	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.1054G>A	16.37:g.89762071G>A	ENSP00000338673:p.Glu352Lys		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	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.E352K	ENST00000353379.7	37	c.1054	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494681	0.44352	0.0	2.33E-4	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.71461	-0.57;-0.51	4.93	3.96	0.45880	Protein kinase-like domain (1);	0.211214	0.48286	D	0.000189	T	0.52403	0.1732	N	0.14661	0.345	0.80722	D	1	B;B	0.13594	0.001;0.008	B;B	0.08055	0.001;0.003	T	0.47711	-0.9096	10	0.45353	T	0.12	-20.7695	11.2585	0.49069	0.0:0.2173:0.6557:0.127	.	352;275	Q15131;Q15131-3	CDK10_HUMAN;.	K	305;352	ENSP00000329957:E305K;ENSP00000338673:E352K	ENSP00000329957:E305K	E	+	1	0	CDK10	88289572	1.000000	0.71417	0.206000	0.23566	0.366000	0.29705	7.080000	0.76837	1.051000	0.40369	0.650000	0.86243	GAG	CDK10	-	superfamily_Kinase-like_dom		0.662	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89762071	1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	0.908	A	A	89762071	G	A	89762071	3	1	152	1	0	0	0	0	1	0	0	0	3130	1059	37	1	1104	1	CDK10	16	89762071	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	138726	89762071	592682	297	25871										
MINK1	50488	genome.wustl.edu	37	chr17	4794980	4794980	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagcccgaatcccccagcctGggtccgcccagataacgagg	11	17	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:4794980G>A	ENST00000355280.6	+	16	2166	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*	MINK1_ENST00000347992.7_Nonsense_Mutation_p.W657*|MINK1_ENST00000453408.3_Nonsense_Mutation_p.W637*	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCCCAGCCTGGGTCCGCCCA	0.632																																																	0													13	16	15					17																	4794980		1976	4146	6122	SO:0001587	stop_gained	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1970G>A	17.37:g.4794980G>A	ENSP00000347427:p.Trp657*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.W657*	ENST00000355280.6	37	c.1970	CCDS45588.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.768482	0.98945	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8757	0.79159	0.0:0.0:1.0:0.0	.	.	.	.	X	657;637;657	.	ENSP00000269296:W657X	W	+	2	0	MINK1	4735756	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.016000	0.93645	2.615000	0.88500	0.561000	0.74099	TGG	MINK1	-	NULL		0.632	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	G	NM_015716		4794980	1	no_errors	ENST00000355280	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	4794980	G	A	4794980	4	1	152	1	0	0	0	0	0	1	0	0	9610	1357	47	4	1771	4	MINK1	17	4794980	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		4794980	76400230	298	25872										
C17orf74	201243	genome.wustl.edu	37	chr17	7329892	7329892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaggacaacctgcccttcccGtatcccaagtacccacgtcg	8	17	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:7329892G>A	ENST00000333870.3	+	3	656	c.582G>A	c.(580-582)ccG>ccA	p.P194P	C17orf74_ENST00000574034.1_Missense_Mutation_p.V82I|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	194						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TGCCCTTCCCGTATCCCAAGT	0.602																																																	0													114	119	117					17																	7329892		1984	4142	6126	SO:0001819	synonymous_variant	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.582G>A	17.37:g.7329892G>A				Missense_Mutation	SNP	NULL	p.V82I	ENST00000333870.3	37	c.244	CCDS42255.1	17																																																																																			C17orf74	-	NULL		0.602	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf74	HGNC	protein_coding	OTTHUMT00000440933.2	G	NM_175734		7329892	1	no_errors	ENST00000574034	ensembl	human	putative	70_37	missense	SNP	0.001	A	A	7329892	G	A	7329892	2	1	152	1	0	0	0	0	0	0	0	1	1883	1132	40	2		2	C17orf74	17	7329892	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2534912	7329892	73865318	299	25873										
DNAH2	146754	genome.wustl.edu	37	chr17	7674219	7674219	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggaggttattgagatgattCtcacagtgcagcgtcagtgg	14	6	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:7674219C>G	ENST00000572933.1	+	27	5790	c.4330C>G	c.(4330-4332)Ctc>Gtc	p.L1444V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L1444V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1444	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGATGATTCTCACAGTGCA	0.493																																																	0													130	109	116					17																	7674219		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4330C>G	17.37:g.7674219C>G	ENSP00000458355:p.Leu1444Val		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L1444V	ENST00000572933.1	37	c.4330	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498094	0.85069	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62639	0.01	4.96	4.96	0.65561	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	T	0.79070	0.4384	M	0.79123	2.44	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.81197	-0.1042	10	0.66056	D	0.02	.	17.5136	0.87767	0.0:1.0:0.0:0.0	.	1444	Q9P225	DYH2_HUMAN	V	1444	ENSP00000373825:L1444V	ENSP00000353818:L1444V	L	+	1	0	DNAH2	7614944	1.000000	0.71417	0.900000	0.35374	0.994000	0.84299	4.937000	0.63513	2.731000	0.93534	0.650000	0.86243	CTC	DNAH2	-	pfam_Dynein_heavy_dom-2		0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7674219	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7674219	C	G	7674219	3	3	152	1	0	0	0	0	1	0	0	0	4612	913	32	1	4432	1	DNAH2	17	7674219	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	344327	7674219	73520991	300	25874										
KIAA0100	9703	genome.wustl.edu	37	chr17	26970655	26970655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	catggctaaggagtttgctgGaaatccacaggttatcaatt	10	7	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:26970655G>A	ENST00000528896.2	-	3	295	c.221C>T	c.(220-222)tCc>tTc	p.S74F	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	74						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGTTTGCTGGAAATCCACAG	0.453																																																	0													125	126	125					17																	26970655		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.221C>T	17.37:g.26970655G>A	ENSP00000436773:p.Ser74Phe		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.S74F	ENST00000528896.2	37	c.221	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742105	0.89573	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.27104	1.69	5.6	5.6	0.85130	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.996	T	0.28713	-1.0035	10	0.59425	D	0.04	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	74;74	F6XS94;Q14667	.;K0100_HUMAN	F	74	ENSP00000436773:S74F	ENSP00000005905:S74F	S	-	2	0	KIAA0100	23994782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.242000	0.89818	2.630000	0.89119	0.655000	0.94253	TCC	KIAA0100	-	pfam_FMP27_N		0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26970655	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26970655	G	A	26970655	3	1	152	1	0	0	0	0	1	0	0	0	8174	1174	41	1	6634	1	KIAA0100	17	26970655	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	19296436	26970655	54224555	301	25875										
SSH2	85464	genome.wustl.edu	37	chr17	27959008	27959008	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttttccatgttcactttcctCagcccttgctctccgctctt	4	16	4	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:27959008C>T	ENST00000269033.3	-	15	3274	c.3123G>A	c.(3121-3123)ctG>ctA	p.L1041L	SSH2_ENST00000540801.1_Silent_p.L1068L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1041					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACTTTCCTCAGCCCTTGCT	0.488																																																	0													133	120	124					17																	27959008		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3123G>A	17.37:g.27959008C>T			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L1041	ENST00000269033.3	37	c.3123	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.488	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	C	NM_033389		27959008	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	0.640	T	T	27959008	C	T	27959008	2	4	152	1	0	0	0	0	0	0	0	1	15215	813	29	1		1	SSH2	17	27959008	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	988353	27959008	53236202	302	25876										
LASP1	3927	genome.wustl.edu	37	chr17	37034359	37034359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttctggcataaagcatgcttCcattgcgagacctgcaagat	9	10	1	2	rs533471690		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:37034359C>G	ENST00000318008.6	+	2	421	c.90C>G	c.(88-90)ttC>ttG	p.F30L	LASP1_ENST00000433206.2_Missense_Mutation_p.P3A|LASP1_ENST00000435347.3_Missense_Mutation_p.F30L	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	30	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						AAGCATGCTTCCATTGCGAGA	0.532			T	MLL	AML																																			Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													142	120	128					17																	37034359		2203	4300	6503	SO:0001583	missense	3927				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.90C>G	17.37:g.37034359C>G	ENSP00000325240:p.Phe30Leu		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.F30L	ENST00000318008.6	37	c.90	CCDS11331.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.06|16.06	3.014608|3.014608	0.54468|0.54468	.|.	.|.	ENSG00000002834|ENSG00000002834	ENST00000318008;ENST00000443937;ENST00000435347|ENST00000433206	D;D;D|T	0.92199|0.37584	-2.99;-2.99;-2.99|1.19	5.72|5.72	4.52|4.52	0.55395|0.55395	Zinc finger, LIM-type (5);|.	0.046134|.	0.85682|.	D|.	0.000000|.	T|T	0.41673|0.41673	0.1169|0.1169	M|M	0.79343|0.79343	2.45|2.45	0.26157|0.26157	N|N	0.980064|0.980064	B;P|B	0.35401|0.14438	0.243;0.499|0.01	B;B|B	0.44133|0.15052	0.168;0.442|0.012	T|T	0.41052|0.41052	-0.9530|-0.9530	10|9	0.54805|0.87932	T|D	0.06|0	.|.	10.8939|10.8939	0.47010|0.47010	0.0:0.8822:0.0:0.1178|0.0:0.8822:0.0:0.1178	.|.	30;30|3	B4DJI4;Q14847|B4DGQ0	.;LASP1_HUMAN|.	L|A	30|3	ENSP00000325240:F30L;ENSP00000414803:F30L;ENSP00000392853:F30L|ENSP00000401048:P3A	ENSP00000325240:F30L|ENSP00000401048:P3A	F|P	+|+	3|1	2|0	LASP1|LASP1	34287885|34287885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.896000|3.896000	0.56266|0.56266	1.083000|1.083000	0.41159|0.41159	0.561000|0.561000	0.74099|0.74099	TTC|CCA	LASP1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.532	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LASP1	HGNC	protein_coding	OTTHUMT00000256890.3	C	NM_006148		37034359	1	no_errors	ENST00000318008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37034359	C	G	37034359	3	3	152	1	0	0	0	0	1	0	0	0	8657	854	30	1	96	1	LASP1	17	37034359	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9075351	37034359	44160851	303	25877										
ERBB2	2064	genome.wustl.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251	204	220					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37868208	C	T	37868208	3	4	152	1	0	0	0	0	1	0	0	0	5218	855	30	1	959	1	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	833849	37868208	43327002	304	25878										
KRT36	8689	genome.wustl.edu	37	chr17	39644584	39644584	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttgcacagggtcagctcatCcaggatcctacgcaggccgt	11	14	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:39644584C>G	ENST00000328119.6	-	3	609	c.610G>C	c.(610-612)Gat>Cat	p.D204H	KRT36_ENST00000393986.2_Missense_Mutation_p.D154H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	204	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GTCAGCTCATCCAGGATCCTA	0.587																																																	0													108	97	100					17																	39644584		2203	4300	6503	SO:0001583	missense	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.610G>C	17.37:g.39644584C>G	ENSP00000329165:p.Asp204His		Q86XG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D204H	ENST00000328119.6	37	c.610	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008178	0.93346	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.91945	-2.94;-2.94	5.69	5.69	0.88448	Filament (1);	0.000000	0.52532	D	0.000076	D	0.97791	0.9275	H	0.97659	4.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.98713	1.0705	10	0.87932	D	0	.	19.8047	0.96525	0.0:1.0:0.0:0.0	.	204	O76013	KRT36_HUMAN	H	154;204	ENSP00000377555:D154H;ENSP00000329165:D204H	ENSP00000329165:D204H	D	-	1	0	KRT36	36898110	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.070000	0.71220	2.692000	0.91855	0.563000	0.77884	GAT	KRT36	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.587	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	C	NM_003771		39644584	-1	no_errors	ENST00000328119	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39644584	C	G	39644584	3	3	152	1	0	0	0	0	1	0	0	0	8493	855	30	1	813	1	KRT36	17	39644584	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1776376	39644584	41550626	305	25879										
KRT15	3866	genome.wustl.edu	37	chr17	39673157	39673157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggtcagctcatccaggactCggcgcaagccgttgatgtca	13	12	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:39673157C>T	ENST00000254043.3	-	3	4226	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	KRT15_ENST00000393974.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393981.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393976.2_Missense_Mutation_p.R214Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	214	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATCCAGGACTCGGCGCAAGCC	0.592																																																	0													69	66	67					17																	39673157		2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.641G>A	17.37:g.39673157C>T	ENSP00000254043:p.Arg214Gln		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R214Q	ENST00000254043.3	37	c.641	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106194	0.56291	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.87	3.9	0.45041	Filament (1);	0.000000	0.47852	D	0.000219	D	0.91078	0.7192	M	0.62154	1.92	0.25595	N	0.986652	D;P;P	0.67145	0.996;0.902;0.902	P;B;P	0.62560	0.904;0.34;0.54	D	0.83797	0.0234	10	0.72032	D	0.01	.	7.753	0.28909	0.0:0.7365:0.0:0.2635	.	49;214;214	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	Q	214;49;214;49;49	ENSP00000254043:R214Q;ENSP00000377544:R49Q;ENSP00000377546:R214Q;ENSP00000377550:R49Q;ENSP00000409282:R49Q	ENSP00000254043:R214Q	R	-	2	0	KRT15	36926683	0.000000	0.05858	0.998000	0.56505	0.136000	0.21042	-0.429000	0.06982	1.275000	0.44379	0.655000	0.94253	CGA	KRT15	-	pfam_F,prints_Keratin_I		0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	C	NM_002275		39673157	-1	no_errors	ENST00000254043	ensembl	human	known	70_37	missense	SNP	0.596	T	T	39673157	C	T	39673157	3	4	152	1	0	0	0	0	1	0	0	0	8472	884	31	1	753	1	KRT15	17	39673157	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	28573	39673157	41522053	306	25880										
COASY	80347	genome.wustl.edu	37	chr17	40715126	40715126	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tatgggataggagaagtgccCgtggagcccctggatgtccc	15	10	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:40715126C>A	ENST00000393818.2	+	1	942	c.486C>A	c.(484-486)ccC>ccA	p.P162P	COASY_ENST00000449624.1_De_novo_Start_InFrame|COASY_ENST00000590958.1_Silent_p.P191P|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Silent_p.P162P|COASY_ENST00000420359.1_Silent_p.P162P	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	162					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAGAAGTGCCCGTGGAGCCCC	0.617																																																	0													93	92	92					17																	40715126		2203	4300	6503	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.486C>A	17.37:g.40715126C>A			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.P191	ENST00000393818.2	37	c.573	CCDS11429.1	17	.	.	.	.	.	.	.	.	.	.	C	3.620	-0.077745	0.07184	.	.	ENSG00000068120	ENST00000426807	.	.	.	5.57	-4.91	0.03085	.	.	.	.	.	T	0.48390	0.1497	.	.	.	0.24891	N	0.99216	.	.	.	.	.	.	T	0.56492	-0.7970	5	0.87932	D	0	-7.0514	12.2687	0.54693	0.0:0.3296:0.0:0.6704	.	.	.	.	S	138	.	ENSP00000390306:R138S	R	+	1	0	COASY	37968652	0.615000	0.27026	0.000000	0.03702	0.363000	0.29612	-0.214000	0.09292	-1.353000	0.02191	-0.258000	0.10820	CGT	COASY	-	NULL		0.617	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40715126	1	no_errors	ENST00000590958	ensembl	human	known	70_37	silent	SNP	0.000	A	A	40715126	C	A	40715126	2	1	152	1	0	0	0	0	0	0	0	1	3657	639	23	2		2	COASY	17	40715126	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1041969	40715126	40480084	307	25881										
MAPT	4137	genome.wustl.edu	37	chr17	44068843	44068843	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagggggctgatggtaaaacGaagatcgccacaccgcgggg	16	10	0	2	rs139748238		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:44068843G>A	ENST00000571987.1	+	8	1398	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	MAPT_ENST00000535772.1_Silent_p.T149T|MAPT_ENST00000347967.5_Silent_p.T55T|MAPT_ENST00000420682.2_Silent_p.T120T|MAPT_ENST00000576518.1_Silent_p.T80T|MAPT_ENST00000446361.3_Silent_p.T91T|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000344290.5_Silent_p.T466T|MAPT_ENST00000574436.1_Silent_p.T149T|MAPT_ENST00000431008.3_Silent_p.T149T|MAPT_ENST00000334239.8_Silent_p.T91T|MAPT_ENST00000351559.5_Silent_p.T149T|MAPT_ENST00000415613.2_Silent_p.T466T|MAPT_ENST00000262410.5_Silent_p.T466T|MAPT_ENST00000340799.5_Silent_p.T120T			P10636	TAU_HUMAN	microtubule-associated protein tau	466					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	ATGGTAAAACGAAGATCGCCA	0.577																																																	0								G	,,,,,,,	0,4406		0,0,2203	103	116	112		1398,360,360,447,447,273,1398,273	-3.9	1	17	dbSNP_134	112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPT	NM_001123066.3,NM_001123067.3,NM_001203251.1,NM_001203252.1,NM_005910.5,NM_016834.4,NM_016835.4,NM_016841.4	,,,,,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,,,,	466/777,120/413,120/382,149/411,149/442,91/384,466/759,91/353	44068843	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1398G>A	17.37:g.44068843G>A			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.T466	ENST00000571987.1	37	c.1398	CCDS11501.1	17																																																																																			MAPT	-	NULL		0.577	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	G	NM_016835		44068843	1	no_errors	ENST00000344290	ensembl	human	known	70_37	silent	SNP	0.736	A	A	44068843	G	A	44068843	2	1	152	1	0	0	0	0	0	0	0	1	9320	1045	37	1		1	MAPT	17	44068843	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3353717	44068843	37126367	308	25882										
NXPH3	11248	genome.wustl.edu	37	chr17	47656636	47656636	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagattacaactaccatagtGataccccctactacccatct	3	15	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:47656636G>C	ENST00000328741.5	+	2	1095	c.733G>C	c.(733-735)Gat>Cat	p.D245H	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Intron	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	245	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTACCATAGTGATACCCCCTA	0.597																																																	0													40	41	41					17																	47656636		2203	4300	6503	SO:0001583	missense	11248			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.733G>C	17.37:g.47656636G>C	ENSP00000329295:p.Asp245His		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.D245H	ENST00000328741.5	37	c.733	CCDS11550.1	17	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648848	0.47362	.	.	ENSG00000182575	ENST00000328741	.	.	.	4.35	3.39	0.38822	.	0.374603	0.29822	N	0.011105	T	0.51449	0.1675	M	0.63428	1.95	0.23304	N	0.997945	P	0.46512	0.879	P	0.56398	0.797	T	0.40887	-0.9539	9	0.72032	D	0.01	-4.005	7.0553	0.25095	0.2771:0.0:0.7229:0.0	.	245	O95157	NXPH3_HUMAN	H	245	.	ENSP00000329295:D245H	D	+	1	0	NXPH3	45011635	0.903000	0.30736	0.914000	0.36105	0.973000	0.67179	2.826000	0.48104	1.053000	0.40415	0.561000	0.74099	GAT	NXPH3	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.597	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	HGNC	protein_coding	OTTHUMT00000365143.1	G			47656636	1	no_errors	ENST00000328741	ensembl	human	known	70_37	missense	SNP	0.122	C	C	47656636	G	C	47656636	3	2	152	1	0	0	0	0	1	0	0	0	10816	1290	45	1	739	1	NXPH3	17	47656636	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3587793	47656636	33538574	309	25883										
TEX14	56155	genome.wustl.edu	37	chr17	56661914	56661914	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agaacttgcttggaaggcttCactatgctctggttgctcct	10	10	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:56661914C>A	ENST00000240361.8	-	19	3221	c.3136G>T	c.(3136-3138)Gaa>Taa	p.E1046*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.E1040*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.E1040*			Q8IWB6	TEX14_HUMAN	testis expressed 14	1046					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)			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)					TGGAAGGCTTCACTATGCTCT	0.428																																																	0													204	172	183					17																	56661914		2203	4300	6503	SO:0001587	stop_gained	56155			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.3136G>T	17.37:g.56661914C>A	ENSP00000240361:p.Glu1046*		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_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.E1046*	ENST00000240361.8	37	c.3136	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.907649	0.97093	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	4.62	3.64	0.41730	.	0.532293	0.18520	N	0.138788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.5902	11.0412	0.47831	0.0:0.8114:0.1886:0.0	.	.	.	.	X	1046;1040;1040	.	ENSP00000240361:E1046X	E	-	1	0	TEX14	54016913	0.181000	0.23161	0.858000	0.33744	0.359000	0.29487	1.363000	0.34159	1.053000	0.40415	0.455000	0.32223	GAA	TEX14	-	NULL		0.428	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	C			56661914	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	nonsense	SNP	0.479	A	A	56661914	C	A	56661914	4	1	152	1	0	0	0	0	0	1	0	0	15808	835	29	3	1417	3	TEX14	17	56661914	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9005278	56661914	24533296	310	25884										
TEX14	56155	genome.wustl.edu	37	chr17	56679877	56679877	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggtttcggaagcctgacatCagcttctaaataattccccg	8	11	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:56679877C>T	ENST00000240361.8	-	12	1514	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	TEX14_ENST00000349033.5_Missense_Mutation_p.D471N|TEX14_ENST00000389934.3_Missense_Mutation_p.D471N			Q8IWB6	TEX14_HUMAN	testis expressed 14	477	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)			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)					AGCCTGACATCAGCTTCTAAA	0.408																																																	0													101	93	96					17																	56679877		2203	4300	6503	SO:0001583	missense	56155			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.1429G>A	17.37:g.56679877C>T	ENSP00000240361:p.Asp477Asn		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.D477N	ENST00000240361.8	37	c.1429	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711998	0.89112	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.82255	-1.59;-1.59;-1.59	5.64	5.64	0.86602	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.168320	0.41605	D	0.000851	D	0.90597	0.7052	M	0.73598	2.24	0.44048	D	0.996785	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.994	D	0.90200	0.4256	10	0.51188	T	0.08	-19.5586	16.78	0.85561	0.0:1.0:0.0:0.0	.	477;471;471	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	N	477;471;471	ENSP00000240361:D477N;ENSP00000374584:D471N;ENSP00000268910:D471N	ENSP00000240361:D477N	D	-	1	0	TEX14	54034876	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.947000	0.63583	2.816000	0.96949	0.563000	0.77884	GAT	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		0.408	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	C			56679877	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56679877	C	T	56679877	3	4	152	1	0	0	0	0	1	0	0	0	15808	826	29	1	3152	1	TEX14	17	56679877	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	17963	56679877	24515333	311	25885										
CCDC45	90799	genome.wustl.edu	37	chr17	62533224	62533224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaagccagagagaaatctcaGgcccaggtaataattaagat	9	7	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:62533224G>A	ENST00000556440.2	+	19	2793	c.2283G>A	c.(2281-2283)caG>caA	p.Q761Q	CEP95_ENST00000553412.1_Silent_p.Q597Q	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	761						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAAATCTCAGGCCCAGGTAA	0.393																																																	0													38	37	37					17																	62533224		1841	4087	5928	SO:0001819	synonymous_variant	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2283G>A	17.37:g.62533224G>A			B4DMD2|Q96M81	Silent	SNP	superfamily_CH-domain	p.Q761	ENST00000556440.2	37	c.2283	CCDS45763.1	17																																																																																			CEP95	-	NULL		0.393	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62533224	1	no_errors	ENST00000556440	ensembl	human	known	70_37	silent	SNP	0.992	A	A	62533224	G	A	62533224	2	1	152	1	0	0	0	0	0	0	0	1	2821	991	35	4		4	CCDC45	17	62533224	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	5853347	62533224	18661986	312	25886										
CCDC46	201134	genome.wustl.edu	37	chr17	63739336	63739336	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtctgaagttctgctatgatCtaaaatgaaaacagcatgct	8	7	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:63739336C>T	ENST00000392769.2	-	23	2676		c.e23-1		CEP112_ENST00000535342.2_Splice_Site|CEP112_ENST00000580482.1_Splice_Site|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000317442.8_Splice_Site|CEP112_ENST00000537949.1_Splice_Site	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa						receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGCTATGATCTAAAATGAAA	0.388																																																	0													71	74	73					17																	63739336		2203	4300	6503	SO:0001630	splice_region_variant	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2458-1G>A	17.37:g.63739336C>T			Q6PIB5|Q8NCR4|Q8NFR4	Splice_Site	SNP	-	e22-1	ENST00000392769.2	37	c.2458-1	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083549	0.55861	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000537949	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP112	61169798	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.580000	0.67464	2.758000	0.94735	0.561000	0.74099	.	CEP112	-	-		0.388	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	C	NM_145036	Intron	63739336	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	63739336	C	T	63739336	5	4	152	1	0	0	0	0	0	0	1	0	2822	927	32	1	430	1	CCDC46	17	63739336	Splice_Site	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1206112	63739336	17455874	313	25887										
SEPT9	10801	genome.wustl.edu	37	chr17	75398515	75398515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaccggcccctcggaggacgGagatcaccatcgtcaaaccc	10	16	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:75398515G>A	ENST00000427177.1	+	3	577	c.451G>A	c.(451-453)Gag>Aag	p.E151K	SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000590294.1_Missense_Mutation_p.E133K|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.E144K|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.E132K|SEPT9_ENST00000329047.8_Missense_Mutation_p.E133K	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	151					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCGGAGGACGGAGATCACCAT	0.701																																																	0													14	19	17					17																	75398515		2187	4281	6468	SO:0001583	missense	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.451G>A	17.37:g.75398515G>A	ENSP00000391249:p.Glu151Lys		A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	p.E151K	ENST00000427177.1	37	c.451	CCDS45790.1	17	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098573	0.76870	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	T;T;T	0.40225	1.04;1.04;1.06	5.25	5.25	0.73442	.	4.873430	0.00559	N	0.000265	T	0.62097	0.2400	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.972;0.999;0.998;0.976	P;D;D;P	0.71656	0.737;0.974;0.957;0.696	T	0.42699	-0.9436	10	0.51188	T	0.08	.	17.8243	0.88660	0.0:0.0:1.0:0.0	.	132;144;133;151	Q9UHD8-7;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;SEPT9_HUMAN	K	151;133;144	ENSP00000391249:E151K;ENSP00000329161:E133K;ENSP00000405877:E144K	ENSP00000329161:E133K	E	+	1	0	SEPT9	72910110	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	8.300000	0.89948	2.441000	0.82636	0.561000	0.74099	GAG	SEPT9	-	NULL		0.701	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	G	NM_006640		75398515	1	no_errors	ENST00000427177	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75398515	G	A	75398515	3	1	152	1	0	0	0	0	1	0	0	0	14101	1175	41	1	546	1	SEPT9	17	75398515	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	11659179	75398515	5796695	314	25888										
LGALS3BP	3959	genome.wustl.edu	37	chr17	76970878	76970878	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggttcccgtgcactggacctCatccagcatgatggggcctg	13	13	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:76970878C>A	ENST00000262776.3	-	4	576	c.268G>T	c.(268-270)Gag>Tag	p.E90*	LGALS3BP_ENST00000591778.1_Nonsense_Mutation_p.E90*|LGALS3BP_ENST00000585407.1_Nonsense_Mutation_p.E90*	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	90	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CACTGGACCTCATCCAGCATG	0.642																																					GBM(89;1105 1755 18102 21513)												0													68	55	59					17																	76970878		2203	4300	6503	SO:0001587	stop_gained	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.268G>T	17.37:g.76970878C>A	ENSP00000262776:p.Glu90*		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.E90*	ENST00000262776.3	37	c.268	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339552	0.60963	.	.	ENSG00000108679	ENST00000262776	.	.	.	3.22	2.24	0.28232	.	0.000000	0.34580	N	0.003859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.0586	6.3972	0.21618	0.0:0.8626:0.0:0.1374	.	.	.	.	X	90	.	ENSP00000262776:E90X	E	-	1	0	LGALS3BP	74482473	0.032000	0.19561	0.429000	0.26710	0.151000	0.21798	0.875000	0.28079	0.918000	0.36919	0.313000	0.20887	GAG	LGALS3BP	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt		0.642	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	C	NM_005567		76970878	-1	no_errors	ENST00000262776	ensembl	human	known	70_37	nonsense	SNP	0.519	A	A	76970878	C	A	76970878	4	1	152	1	0	0	0	0	0	1	0	0	8764	835	29	3	1501	3	LGALS3BP	17	76970878	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1572363	76970878	4224332	315	25889										
AATK	9625	genome.wustl.edu	37	chr17	79098591	79098591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	atgcacctcgtccaccagctCtggcgcgatccagcgcagag	11	16	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:79098591C>T	ENST00000326724.4	-	9	922	c.898G>A	c.(898-900)Gag>Aag	p.E300K	AATK_ENST00000417379.1_Missense_Mutation_p.E197K|AATK_ENST00000572339.1_5'Flank|MIR338_ENST00000390137.2_RNA|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCCACCAGCTCTGGCGCGATC	0.672																																																	0													38	45	43					17																	79098591		2165	4250	6415	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.898G>A	17.37:g.79098591C>T	ENSP00000324196:p.Glu300Lys		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E300K	ENST00000326724.4	37	c.898	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.229926	0.95173	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	D;D	0.97529	-4.42;-4.42	3.86	3.86	0.44501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062472	0.64402	D	0.000007	D	0.98950	0.9643	H	0.98646	4.29	0.58432	D	0.999994	D	0.63880	0.993	D	0.62955	0.909	D	0.99126	1.0851	10	0.87932	D	0	.	14.7321	0.69388	0.0:1.0:0.0:0.0	.	300	Q6ZMQ8	LMTK1_HUMAN	K	300	ENSP00000324196:E300K;ENSP00000363924:E300K	ENSP00000324196:E300K	E	-	1	0	AATK	76713186	1.000000	0.71417	0.960000	0.40013	0.760000	0.43138	5.444000	0.66587	1.982000	0.57802	0.591000	0.81541	GAG	AATK	-	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,pfscan_Prot_kinase_cat_dom		0.672	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79098591	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	0.999	T	T	79098591	C	T	79098591	3	4	152	1	0	0	0	0	1	0	0	0	26	922	32	1	3250	1	AATK	17	79098591	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2127713	79098591	2096619	316	25890										
C17orf90	339229	genome.wustl.edu	37	chr17	79632238	79632238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagcagggatggctcagcctCcgcacctggtgtgcagccgg	15	14	1	0	rs573397609	byFrequency	TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr17:79632238C>T	ENST00000374741.3	-	2	447	c.437G>A	c.(436-438)gGa>gAa	p.G146E	CCDC137_ENST00000329214.8_5'Flank|OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR|PDE6G_ENST00000574777.1_5'Flank|PDE6G_ENST00000571224.1_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	146						mitochondrion (GO:0005739)											GGCTCAGCCTCCGCACCTGGT	0.657													C|||	4	0.000798722	0	0	5008	,	,		15699	0		0	False		,,,				2504	0.0041																0													38	39	38					17																	79632238		2203	4300	6503	SO:0001583	missense	339229				CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237			27901	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 90"	C17orf90			Standard	NM_001039842		Approved	MGC104712	uc002kba.3	Q5BKU9	OTTHUMG00000178063	ENST00000374741.3:c.437G>A	17.37:g.79632238C>T	ENSP00000363873:p.Gly146Glu		A6ND24	Missense_Mutation	SNP	pfam_Oxidoreductase-like_N	p.G146E	ENST00000374741.3	37	c.437	CCDS32766.1	17	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494944	0.44352	.	.	ENSG00000204237	ENST00000374741	.	.	.	4.65	1.0	0.19881	.	0.823089	0.10013	N	0.726989	T	0.34106	0.0886	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.37526	-0.9702	9	0.87932	D	0	-7.6468	4.6896	0.12774	0.0:0.4381:0.1623:0.3996	.	146	Q5BKU9	CQ090_HUMAN	E	146	.	ENSP00000363873:G146E	G	-	2	0	C17orf90	77242643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.636000	0.24644	0.416000	0.25844	-0.768000	0.03414	GGA	OXLD1	-	NULL		0.657	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXLD1	HGNC	protein_coding	OTTHUMT00000440380.1	C	NM_001039842		79632238	-1	no_errors	ENST00000374741	ensembl	human	known	70_37	missense	SNP	0.000	T	T	79632238	C	T	79632238	3	4	152	1	0	0	0	0	1	0	0	0	1895	855	30	1	10	1	C17orf90	17	79632238	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	533647	79632238	1562972	317	25891										
YES1	7525	genome.wustl.edu	37	chr18	724573	724573	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagggattctggacagccctGagggcacggcatcctgtatc	14	11	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr18:724573G>A	ENST00000584307.1	-	12	1653	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	YES1_ENST00000314574.4_Nonsense_Mutation_p.Q495*|YES1_ENST00000577961.1_Nonsense_Mutation_p.Q500*			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.Q495*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACAGCCCTGAGGGCACGGC	0.418																																																	1	Substitution - Nonsense(1)	ovary(1)											92	94	93					18																	724573		2203	4300	6503	SO:0001587	stop_gained	7525			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1483C>T	18.37:g.724573G>A	ENSP00000462468:p.Gln495*		A6NLB3|D3DUH1	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.Q495*	ENST00000584307.1	37	c.1483	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	G	37	6.288145	0.97444	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.5435	0.91038	0.0:0.0:1.0:0.0	.	.	.	.	X	495	.	ENSP00000324740:Q495X	Q	-	1	0	YES1	714573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.510000	0.98004	2.468000	0.83385	0.591000	0.81541	CAG	YES1	-	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,pfscan_Prot_kinase_cat_dom		0.418	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	G	NM_005433		724573	-1	no_errors	ENST00000314574	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	724573	G	A	724573	4	1	152	1	0	0	0	0	0	1	0	0	17505	1299	45	1	152	1	YES1	18	724573	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		724573	77352675	318	25892										
ZNF396	252884	genome.wustl.edu	37	chr18	32954014	32954014	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttggtgtgcacttccggcctCagccagagatgacaaagttc	11	11	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr18:32954014C>T	ENST00000589332.1	-	2	374	c.243G>A	c.(241-243)ctG>ctA	p.L81L	ZNF396_ENST00000586687.1_Silent_p.L81L|ZNF396_ENST00000306346.1_Silent_p.L81L			Q96N95	ZN396_HUMAN	zinc finger protein 396	81	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTCCGGCCTCAGCCAGAGAT	0.597																																																	0													67	68	68					18																	32954014		2203	4300	6503	SO:0001819	synonymous_variant	252884			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"-", "Zinc fingers, C2H2-type"	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.243G>A	18.37:g.32954014C>T			A1L3V0|Q8NF98|Q8TD80	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L81	ENST00000589332.1	37	c.243		18																																																																																			ZNF396	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.597	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	ZNF396	HGNC	protein_coding	OTTHUMT00000255766.1	C	NM_145756		32954014	-1	no_errors	ENST00000589332	ensembl	human	known	70_37	silent	SNP	0.999	T	T	32954014	C	T	32954014	2	4	152	1	0	0	0	0	0	0	0	1	17912	813	29	1		1	ZNF396	18	32954014	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	32229441	32954014	45123234	319	25893										
ZNF532	55205	genome.wustl.edu	37	chr18	56606737	56606737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgaagtctcacattcaaggTtctcactgtgaagtcttcta	7	10	5	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr18:56606737T>C	ENST00000336078.4	+	6	3365	c.2589T>C	c.(2587-2589)ggT>ggC	p.G863G	ZNF532_ENST00000591083.1_Silent_p.G863G|ZNF532_ENST00000591808.1_Silent_p.G863G|ZNF532_ENST00000591230.1_Silent_p.G863G|ZNF532_ENST00000589288.1_Silent_p.G863G	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	863					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACATTCAAGGTTCTCACTGTG	0.453																																																	0													193	166	175					18																	56606737		2203	4297	6500	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2589T>C	18.37:g.56606737T>C			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G863	ENST00000336078.4	37	c.2589	CCDS11969.1	18																																																																																			ZNF532	-	smart_Znf_C2H2-like		0.453	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	T	NM_018181		56606737	1	no_errors	ENST00000336078	ensembl	human	known	70_37	silent	SNP	0.958	C	C	56606737	T	C	56606737	2	2	152	1	0	0	0	0	0	0	0	1	18002	1712	60	5		5	ZNF532	18	56606737	Silent	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	23652723	56606737	21470511	320	25894										
ZNF532	55205	genome.wustl.edu	37	chr18	56606770	56606770	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtcttctacaagtgtcctatTtgtccaatggcgtttaagtc	8	9	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr18:56606770T>C	ENST00000336078.4	+	6	3398	c.2622T>C	c.(2620-2622)atT>atC	p.I874I	ZNF532_ENST00000591083.1_Silent_p.I874I|ZNF532_ENST00000591808.1_Silent_p.I874I|ZNF532_ENST00000591230.1_Silent_p.I874I|ZNF532_ENST00000589288.1_Silent_p.I874I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	874					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTGTCCTATTTGTCCAATGG	0.458																																																	0													162	138	146					18																	56606770		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2622T>C	18.37:g.56606770T>C			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I874	ENST00000336078.4	37	c.2622	CCDS11969.1	18																																																																																			ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	T	NM_018181		56606770	1	no_errors	ENST00000336078	ensembl	human	known	70_37	silent	SNP	1.000	C	C	56606770	T	C	56606770	2	2	152	1	0	0	0	0	0	0	0	1	18002	1829	64	5		5	ZNF532	18	56606770	Silent	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	33	56606770	21470478	321	25895										
APC2	10297	genome.wustl.edu	37	chr19	1465202	1465202	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cagacgctgctgcagcatctGacttcgcacagcctgaccat	9	15	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:1465202G>C	ENST00000535453.1	+	14	3615	c.1902G>C	c.(1900-1902)ctG>ctC	p.L634L	APC2_ENST00000233607.2_Silent_p.L634L|APC2_ENST00000238483.4_Silent_p.L360L|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGCATCTGACTTCGCACA	0.682																																																	0													18	15	16					19																	1465202		2187	4278	6465	SO:0001819	synonymous_variant	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1902G>C	19.37:g.1465202G>C			C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.L634	ENST00000535453.1	37	c.1902	CCDS12068.1	19																																																																																			APC2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	G	NM_005883		1465202	1	no_errors	ENST00000233607	ensembl	human	known	70_37	silent	SNP	0.997	C	C	1465202	G	C	1465202	2	2	152	1	0	0	0	0	0	0	0	1	764	1277	45	1		1	APC2	19	1465202	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		1465202	57663781	322	25896										
MEX3D	399664	genome.wustl.edu	37	chr19	1556729	1556729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggttgggcgggccctgggcGgcgccgggcagacccccggc	20	15	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:1556729G>A	ENST00000402693.4	-	2	788	c.789C>T	c.(787-789)gcC>gcT	p.A263A	AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA|MEX3D_ENST00000388824.6_Silent_p.A263A	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	263					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCTGGGCGGCGCCGGGCA	0.711																																																	0													16	19	18					19																	1556729		2191	4273	6464	SO:0001819	synonymous_variant	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.789C>T	19.37:g.1556729G>A			A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.A263	ENST00000402693.4	37	c.789	CCDS32865.2	19																																																																																			MEX3D	-	NULL		0.711	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	G	NM_203304		1556729	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	silent	SNP	0.011	A	A	1556729	G	A	1556729	2	1	152	1	0	0	0	0	0	0	0	1	9535	1103	39	2		2	MEX3D	19	1556729	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	91527	1556729	57572254	323	25897										
CHAF1A	10036	genome.wustl.edu	37	chr19	4433403	4433403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctatgtgacatcggtgccctCggcccccaaagaggacagtg	12	13	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:4433403C>T	ENST00000301280.5	+	13	2641	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	847	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGTGCCCTCGGCCCCCAAA	0.647								Chromatin Structure																																									0													51	50	50					19																	4433403		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2540C>T	19.37:g.4433403C>T	ENSP00000301280:p.Ser847Leu		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.S847L	ENST00000301280.5	37	c.2540	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641672	0.29157	.	.	ENSG00000167670	ENST00000301280	T	0.30981	1.51	5.62	5.62	0.85841	.	.	.	.	.	T	0.31451	0.0797	M	0.63843	1.955	0.09310	N	0.999998	P	0.51449	0.945	B	0.36464	0.225	T	0.38156	-0.9674	8	.	.	.	-2.2534	15.8183	0.78621	0.0:0.8641:0.1359:0.0	.	847	Q13111	CAF1A_HUMAN	L	847	ENSP00000301280:S847L	.	S	+	2	0	CHAF1A	4384403	0.970000	0.33590	0.054000	0.19295	0.056000	0.15407	4.206000	0.58473	2.653000	0.90120	0.650000	0.86243	TCG	CHAF1A	-	NULL		0.647	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	C	NM_005483		4433403	1	no_errors	ENST00000301280	ensembl	human	known	70_37	missense	SNP	0.175	T	T	4433403	C	T	4433403	3	4	152	1	0	0	0	0	1	0	0	0	3316	893	31	1	2590	1	CHAF1A	19	4433403	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2876674	4433403	54695580	324	25898										
ARRDC5	645432	genome.wustl.edu	37	chr19	4891274	4891274	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gacagcagcaacggcaggttGaaggtgctgacaaccttggt	14	9	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:4891274G>A	ENST00000381781.2	-	3	812	c.813C>T	c.(811-813)ttC>ttT	p.F271F	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	271										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ACGGCAGGTTGAAGGTGCTGA	0.642																																																	0													92	104	100					19																	4891274		2092	4210	6302	SO:0001819	synonymous_variant	645432				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.813C>T	19.37:g.4891274G>A				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.F271	ENST00000381781.2	37	c.813	CCDS45929.1	19																																																																																			ARRDC5	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.642	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	HGNC	protein_coding	OTTHUMT00000450443.1	G	XM_292803		4891274	-1	no_errors	ENST00000381781	ensembl	human	known	70_37	silent	SNP	0.811	A	A	4891274	G	A	4891274	2	1	152	1	0	0	0	0	0	0	0	1	987	1281	45	1		1	ARRDC5	19	4891274	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	457871	4891274	54237709	325	25899										
DUS3L	56931	genome.wustl.edu	37	chr19	5786512	5786512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccggtgacaccagtctgcaTggcgcggttggcatcctcaa	12	14	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:5786512T>A	ENST00000309061.7	-	10	1624	c.1528A>T	c.(1528-1530)Atg>Ttg	p.M510L	DUS3L_ENST00000320699.8_Missense_Mutation_p.M268L|CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	510							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCAGTCTGCATGGCGCGGTTG	0.577																																																	0													113	80	91					19																	5786512		2203	4300	6503	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1528A>T	19.37:g.5786512T>A	ENSP00000311977:p.Met510Leu		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.M510L	ENST00000309061.7	37	c.1528	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	T	5.234	0.228745	0.09916	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.23950	1.88;1.88	4.94	-0.114	0.13564	Aldolase-type TIM barrel (1);	0.428768	0.26836	N	0.022252	T	0.05823	0.0152	N	0.01649	-0.78	0.27341	N	0.95651	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39563	-0.9608	10	0.02654	T	1	-31.0223	5.3912	0.16245	0.2708:0.0:0.4174:0.3118	.	268;510	Q96G46-3;Q96G46	.;DUS3L_HUMAN	L	510;268	ENSP00000311977:M510L;ENSP00000315558:M268L	ENSP00000311977:M510L	M	-	1	0	DUS3L	5737512	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.729000	0.26028	0.205000	0.20568	0.444000	0.29173	ATG	DUS3L	-	pfam_tRNA_hU_synthase		0.577	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	T	NM_020175		5786512	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	missense	SNP	0.994	A	A	5786512	T	A	5786512	3	1	152	1	0	0	0	0	1	0	0	0	4817	1464	51	5	440	5	DUS3L	19	5786512	Missense_Mutation	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	895238	5786512	53342471	326	25900										
SLC25A41	284427	genome.wustl.edu	37	chr19	6433595	6433595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggttccaggatgggggtggaGgcggaggttgggggggaggc	26	4	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:6433595G>T	ENST00000321510.6	-	1	178	c.110C>A	c.(109-111)cCt>cAt	p.P37H	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						tgggggtggaggcggaggttg	0.572																																																	0													53	52	53					19																	6433595		1918	4112	6030	SO:0001583	missense	284427			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"Solute carriers"	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.110C>A	19.37:g.6433595G>T	ENSP00000322649:p.Pro37His			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P37H	ENST00000321510.6	37	c.110	CCDS45937.1	19	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412949	0.25465	.	.	ENSG00000181240	ENST00000321510;ENST00000458275	T;D	0.85411	-1.37;-1.98	3.05	2.0	0.26442	.	0.174717	0.35378	U	0.003246	T	0.75961	0.3921	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.54372	0.75	T	0.67205	-0.5729	10	0.87932	D	0	.	6.0043	0.19537	0.1467:0.0:0.8533:0.0	.	37	Q8N5S1	S2541_HUMAN	H	37	ENSP00000322649:P37H;ENSP00000405411:P37H	ENSP00000322649:P37H	P	-	2	0	SLC25A41	6384595	0.141000	0.22595	0.074000	0.20217	0.043000	0.13939	1.854000	0.39368	0.881000	0.35993	0.306000	0.20318	CCT	SLC25A41	-	NULL		0.572	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	G	NM_173637		6433595	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	0.068	T	T	6433595	G	T	6433595	3	4	152	1	0	0	0	0	1	0	0	0	14536	1000	35	4	1030	4	SLC25A41	19	6433595	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	647083	6433595	52695388	327	25901										
ARHGEF18	23370	genome.wustl.edu	37	chr19	7528832	7528832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gctacgactgcacaaacagcCccaccaagagtaagagcggg	11	13	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:7528832C>T	ENST00000359920.6	+	12	2453	c.2200C>T	c.(2200-2202)Ccc>Tcc	p.P734S	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P576S|CTD-2207O23.3_ENST00000593531.1_Silent_p.A691A	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	734					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CACAAACAGCCCCACCAAGAG	0.627																																																	0													22	24	23					19																	7528832		2191	4290	6481	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2200C>T	19.37:g.7528832C>T	ENSP00000352995:p.Pro734Ser		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P734S	ENST00000359920.6	37	c.2200	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	C	2.919	-0.223647	0.06061	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.24723	1.84;1.84	4.75	3.6	0.41247	.	1.093510	0.07033	N	0.828735	T	0.18964	0.0455	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30416	-0.9979	10	0.07175	T	0.84	-12.6433	8.9766	0.35939	0.2778:0.7222:0.0:0.0	.	576;734	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	S	576;734	ENSP00000319200:P576S;ENSP00000352995:P734S	ENSP00000319200:P576S	P	+	1	0	ARHGEF18	7434832	0.000000	0.05858	0.860000	0.33809	0.305000	0.27757	-0.650000	0.05378	2.369000	0.80426	0.555000	0.69702	CCC	ARHGEF18	-	NULL		0.627	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	C	NM_015318		7528832	1	no_errors	ENST00000359920	ensembl	human	known	70_37	missense	SNP	0.014	T	T	7528832	C	T	7528832	3	4	152	1	0	0	0	0	1	0	0	0	901	623	22	4	2246	4	ARHGEF18	19	7528832	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1095237	7528832	51600151	328	25902										
SLC44A2	57153	genome.wustl.edu	37	chr19	10754060	10754060	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caagaaggcagcggagtcctGaaggccccgtgctccccacc	12	16	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:10754060G>A	ENST00000335757.5	+	22	2496	c.2120G>A	c.(2119-2121)tGa>tAa	p.*707*	SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.*705*			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	0					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCGGAGTCCTGAAGGCCCCGT	0.587																																																	0													35	33	33					19																	10754060		2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2120G>A	19.37:g.10754060G>A			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	pfam_Choline_transptr-like	p.*707	ENST00000335757.5	37	c.2120	CCDS12245.1	19																																																																																			SLC44A2	-	NULL		0.587	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	G			10754060	1	no_errors	ENST00000335757	ensembl	human	known	70_37	silent	SNP	0.494	A	A	10754060	G	A	10754060	2	1	152	1	0	0	0	0	0	0	0	1	14666	1285	45	1		1	SLC44A2	19	10754060	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3225228	10754060	48374923	329	25903										
YIPF2	78992	genome.wustl.edu	37	chr19	11038333	11038333	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtgtccacgtcaaagaagctCtgatagtagctgaaggtcca	11	9	2	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:11038333C>G	ENST00000586748.1	-	4	424	c.252G>C	c.(250-252)caG>caC	p.Q84H	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_Missense_Mutation_p.Q84H|YIPF2_ENST00000590329.1_Missense_Mutation_p.Q84H			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	84						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAAAGAAGCTCTGATAGTAGC	0.617																																																	0													97	86	89					19																	11038333		2203	4300	6503	SO:0001583	missense	78992			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.252G>C	19.37:g.11038333C>G	ENSP00000466055:p.Gln84His			Missense_Mutation	SNP	pfam_Yip1	p.Q84H	ENST00000586748.1	37	c.252	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106950	0.77096	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.89	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69807	-0.5045	9	0.87932	D	0	-13.0963	6.6941	0.23189	0.0:0.6856:0.1495:0.1649	.	84	Q9BWQ6	YIPF2_HUMAN	H	84	.	ENSP00000253031:Q84H	Q	-	3	2	YIPF2	10899333	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.206000	0.42779	0.656000	0.30886	-0.150000	0.13652	CAG	YIPF2	-	NULL		0.617	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	C	NM_024029		11038333	-1	no_errors	ENST00000253031	ensembl	human	known	70_37	missense	SNP	0.997	G	G	11038333	C	G	11038333	3	3	152	1	0	0	0	0	1	0	0	0	17509	912	32	1	722	1	YIPF2	19	11038333	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	284273	11038333	48090650	330	25904										
CCDC151	115948	genome.wustl.edu	37	chr19	11545671	11545671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgcacctctgtggaaggatCctcccttggaacggcctggg	13	13	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:11545671C>T	ENST00000356392.4	-	1	254	c.167G>A	c.(166-168)gGa>gAa	p.G56E	PRKCSH_ENST00000589838.1_5'Flank|CCDC151_ENST00000591179.1_Missense_Mutation_p.G56E|PRKCSH_ENST00000587327.1_5'Flank|PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000252455.2_5'Flank|PRKCSH_ENST00000592741.1_5'Flank|PRKCSH_ENST00000412601.1_5'Flank|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	56										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTGGAAGGATCCTCCCTTGGA	0.592											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													84	89	88					19																	11545671		1969	4148	6117	SO:0001583	missense	115948				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.167G>A	19.37:g.11545671C>T	ENSP00000348757:p.Gly56Glu	673	B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.G56E	ENST00000356392.4	37	c.167	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009095	0.54361	.	.	ENSG00000198003	ENST00000356392;ENST00000543934	T	0.11277	2.79	4.54	-3.53	0.04667	.	1.053360	0.07546	N	0.914737	T	0.10165	0.0249	L	0.54323	1.7	0.09310	N	0.999999	B;P	0.36909	0.047;0.573	B;B	0.40901	0.013;0.343	T	0.35301	-0.9794	10	0.27785	T	0.31	-0.0448	2.6153	0.04902	0.1387:0.2524:0.4275:0.1814	.	56;56	B3KPH7;A5D8V7	.;CC151_HUMAN	E	56;35	ENSP00000348757:G56E	ENSP00000348757:G56E	G	-	2	0	CCDC151	11406671	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.266000	0.08631	-0.329000	0.08527	0.655000	0.94253	GGA	CCDC151	-	NULL		0.592	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	C	NM_145045		11545671	-1	no_errors	ENST00000356392	ensembl	human	known	70_37	missense	SNP	0.000	T	T	11545671	C	T	11545671	3	4	152	1	0	0	0	0	1	0	0	0	2791	855	30	1	1672	1	CCDC151	19	11545671	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	507338	11545671	47583312	331	25905										
ZNF878	729747	genome.wustl.edu	37	chr19	12155702	12155702	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tttcccacactgcttacattCatagggtttttttgcagagt	7	9	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:12155702C>T	ENST00000547628.1	-	4	651	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.E219K	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCTTACATTCATAGGGTTTT	0.413																																																	0													150	164	159					19																	12155702		2101	4252	6353	SO:0001583	missense	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.514G>A	19.37:g.12155702C>T	ENSP00000447931:p.Glu172Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E219K	ENST00000547628.1	37	c.655	CCDS45984.2	19	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553650	0.03996	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.06608	3.28	1.19	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01454	0.0047	N	0.00566	-1.37	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.47420	-0.9119	9	0.16420	T	0.52	.	2.0162	0.03498	0.3169:0.4672:0.0:0.2159	.	172	C9JN71	ZN878_HUMAN	K	172;219	ENSP00000447931:E172K	ENSP00000447931:E172K	E	-	1	0	AC022415.4;ZNF878	12016702	0.000000	0.05858	0.041000	0.18516	0.261000	0.26267	-1.566000	0.02148	0.619000	0.30197	0.186000	0.17326	GAA	ZNF878	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	C	NM_001080404		12155702	-1	no_errors	ENST00000602107	ensembl	human	known	70_37	missense	SNP	0.131	T	T	12155702	C	T	12155702	3	4	152	1	0	0	0	0	1	0	0	0	18226	835	29	1	1085	1	ZNF878	19	12155702	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	610031	12155702	46973281	332	25906										
ZNF564	163050	genome.wustl.edu	37	chr19	12637494	12637494	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccacattctttacattcataGggtttttctccagtatgagt	6	9	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:12637494G>C	ENST00000339282.7	-	4	1624	c.1428C>G	c.(1426-1428)ccC>ccG	p.P476P	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	476					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.P476P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TACATTCATAGGGTTTTTCTC	0.383																																																	1	Substitution - coding silent(1)	lung(1)											121	127	125					19																	12637494		2195	4299	6494	SO:0001819	synonymous_variant	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1428C>G	19.37:g.12637494G>C			B9EGT4|Q6P1K6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P476	ENST00000339282.7	37	c.1428	CCDS42505.1	19																																																																																			ZNF564	-	pfscan_Znf_C2H2		0.383	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	G	NM_144976		12637494	-1	no_errors	ENST00000339282	ensembl	human	known	70_37	silent	SNP	0.016	C	C	12637494	G	C	12637494	2	2	152	1	0	0	0	0	0	0	0	1	18025	987	35	4		4	ZNF564	19	12637494	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	481792	12637494	46491489	333	25907										
ZNF564	163050	genome.wustl.edu	37	chr19	12637736	12637736	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aaaggctctaccacatacctGacatttataaggtccatctc	5	12	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:12637736G>C	ENST00000339282.7	-	4	1382	c.1186C>G	c.(1186-1188)Cag>Gag	p.Q396E	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCACATACCTGACATTTATAA	0.443																																																	0													140	144	142					19																	12637736		2203	4300	6503	SO:0001583	missense	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1186C>G	19.37:g.12637736G>C	ENSP00000340004:p.Gln396Glu		B9EGT4|Q6P1K6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q396E	ENST00000339282.7	37	c.1186	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	G	7.564	0.665365	0.14710	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.56	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.02181	-0.65	0.23144	N	0.998225	B	0.11235	0.004	B	0.20577	0.03	T	0.41840	-0.9486	9	0.54805	T	0.06	.	1.4539	0.02381	0.1687:0.1495:0.4358:0.2461	.	396	Q8TBZ8	ZN564_HUMAN	E	396	ENSP00000340004:Q396E	ENSP00000340004:Q396E	Q	-	1	0	ZNF564	12498736	0.004000	0.15560	0.002000	0.10522	0.157000	0.22087	-1.194000	0.03046	-0.326000	0.08564	-0.294000	0.09567	CAG	ZNF564	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	G	NM_144976		12637736	-1	no_errors	ENST00000339282	ensembl	human	known	70_37	missense	SNP	0.013	C	C	12637736	G	C	12637736	3	2	152	1	0	0	0	0	1	0	0	0	18025	1299	45	1	479	1	ZNF564	19	12637736	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	242	12637736	46491247	334	25908										
ZNF564	163050	genome.wustl.edu	37	chr19	12638687	12638687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	actgaaggcttctccacattGatcatattctttactttcac	4	11	4	2	rs555349242		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:12638687G>C	ENST00000339282.7	-	4	431	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCTCCACATTGATCATATTCT	0.328													G|||	1	0.000199681	0	0	5008	,	,		19853	0		0	False		,,,				2504	0.001																0													73	73	73					19																	12638687		1965	4165	6130	SO:0001583	missense	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.235C>G	19.37:g.12638687G>C	ENSP00000340004:p.Gln79Glu		B9EGT4|Q6P1K6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q79E	ENST00000339282.7	37	c.235	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	G	5.603	0.296055	0.10622	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.37	0.242	0.15498	Krueppel-associated box (1);	.	.	.	.	T	0.06962	0.0177	L	0.54863	1.705	0.09310	N	1	B	0.24823	0.112	B	0.22152	0.038	T	0.44283	-0.9338	9	0.13853	T	0.58	.	3.9499	0.09364	0.0:0.2254:0.3205:0.4541	.	79	Q8TBZ8	ZN564_HUMAN	E	79	ENSP00000340004:Q79E	ENSP00000340004:Q79E	Q	-	1	0	ZNF564	12499687	.	.	0.001000	0.08648	0.009000	0.06853	.	.	0.126000	0.18424	0.643000	0.83706	CAA	ZNF564	-	pfscan_Krueppel-associated_box		0.328	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	G	NM_144976		12638687	-1	no_errors	ENST00000339282	ensembl	human	known	70_37	missense	SNP	0.001	C	C	12638687	G	C	12638687	3	2	152	1	0	0	0	0	1	0	0	0	18025	1299	45	1	1430	1	ZNF564	19	12638687	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	951	12638687	46490296	335	25909										
MAN2B1	4125	genome.wustl.edu	37	chr19	12758053	12758053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaccagggccccacctgtgtTtgttgtccacttgagcctgg	12	13	0	1	rs148080695	byFrequency	TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:12758053T>G	ENST00000456935.2	-	23	2957	c.2917A>C	c.(2917-2919)Aac>Cac	p.N973H	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.K159T|MAN2B1_ENST00000221363.4_Missense_Mutation_p.N972H	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	973					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCACCTGTGTTTGTTGTCCAC	0.647																																																	0													75	77	76					19																	12758053		2203	4300	6503	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2917A>C	19.37:g.12758053T>G	ENSP00000395473:p.Asn973His		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.N973H	ENST00000456935.2	37	c.2917	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406543	0.25378	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.81739	-1.53;-1.53	5.75	-4.52	0.03472	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.465370	0.04220	N	0.333346	T	0.67449	0.2894	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.14578	0.007;0.011	T	0.54476	-0.8288	10	0.44086	T	0.13	-8.1837	9.013	0.36153	0.0:0.5257:0.1291:0.3453	.	972;973	G5E928;O00754	.;MA2B1_HUMAN	H	973;912;972	ENSP00000395473:N973H;ENSP00000221363:N972H	ENSP00000221363:N972H	N	-	1	0	MAN2B1	12619053	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.120000	0.03273	-0.949000	0.03663	-0.250000	0.11733	AAC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.647	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	T			12758053	-1	no_errors	ENST00000456935	ensembl	human	known	70_37	missense	SNP	0.000	G	G	12758053	T	G	12758053	3	3	152	1	0	0	0	0	1	0	0	0	9239	1841	64	5	126	5	MAN2B1	19	12758053	Missense_Mutation	SNP	T	TCGA-IR-A3LI-01A-11D-A20U-09	119366	12758053	46370930	336	25910										
MAN2B1	4125	genome.wustl.edu	37	chr19	12758083	12758083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttgagcctggaggctgcctCgcggagctggttggccacca	15	13	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:12758083C>T	ENST00000456935.2	-	23	2927	c.2887G>A	c.(2887-2889)Gag>Aag	p.E963K	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R149Q|MAN2B1_ENST00000221363.4_Missense_Mutation_p.E962K	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	963					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGGCTGCCTCGCGGAGCTGG	0.657																																																	0													76	77	77					19																	12758083		2203	4300	6503	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2887G>A	19.37:g.12758083C>T	ENSP00000395473:p.Glu963Lys		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.E963K	ENST00000456935.2	37	c.2887	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414776	0.25465	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83335	-1.71;-1.71	5.84	-2.67	0.06059	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.567730	0.03921	N	0.283564	T	0.65026	0.2652	N	0.14661	0.345	0.09310	N	1	B;B	0.16166	0.007;0.016	B;B	0.14023	0.006;0.01	T	0.51317	-0.8721	10	0.13108	T	0.6	-6.1568	4.6096	0.12395	0.3917:0.3704:0.0:0.238	.	962;963	G5E928;O00754	.;MA2B1_HUMAN	K	963;902;962	ENSP00000395473:E963K;ENSP00000221363:E962K	ENSP00000221363:E962K	E	-	1	0	MAN2B1	12619083	0.002000	0.14202	0.000000	0.03702	0.040000	0.13550	0.235000	0.17948	-0.140000	0.11394	0.561000	0.74099	GAG	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.657	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	C			12758083	-1	no_errors	ENST00000456935	ensembl	human	known	70_37	missense	SNP	0.000	T	T	12758083	C	T	12758083	3	4	152	1	0	0	0	0	1	0	0	0	9239	893	31	1	156	1	MAN2B1	19	12758083	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	30	12758083	46370900	337	25911										
ZNF506	440515	genome.wustl.edu	37	chr19	19905766	19905766	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctcacatttgtagggtttCtctccagtatgaattatctc	6	10	3	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:19905766C>G	ENST00000540806.2	-	4	1018	c.930G>C	c.(928-930)gaG>gaC	p.E310D	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.E278D|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000443905.2_Missense_Mutation_p.E310D			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TGTAGGGTTTCTCTCCAGTAT	0.368																																																	0													53	58	56					19																	19905766		2196	4298	6494	SO:0001583	missense	440515			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.930G>C	19.37:g.19905766C>G	ENSP00000440625:p.Glu310Asp		B3KTH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E310D	ENST00000540806.2	37	c.930	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	-	14.62	2.589078	0.46110	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.26810	1.71;1.71;1.71	0.974	0.974	0.19715	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40119	0.1104	L	0.58810	1.83	0.35240	D	0.777754	B;D	0.57257	0.157;0.979	B;D	0.69479	0.132;0.964	T	0.49390	-0.8945	9	0.59425	D	0.04	.	7.3873	0.26891	0.0:1.0:0.0:0.0	.	310;278	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	D	310;310;278	ENSP00000393835:E310D;ENSP00000440625:E310D;ENSP00000408892:E278D	ENSP00000393835:E310D	E	-	3	2	ZNF506	19766766	0.994000	0.37717	0.567000	0.28434	0.528000	0.34623	1.258000	0.32944	0.423000	0.26033	0.423000	0.28283	GAG	ZNF506	-	pfscan_Znf_C2H2		0.368	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	C	XM_036218		19905766	-1	no_errors	ENST00000443905	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19905766	C	G	19905766	3	3	152	1	0	0	0	0	1	0	0	0	17982	912	32	1	408	1	ZNF506	19	19905766	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	7147683	19905766	39223217	338	25912										
ZNF714	148206	genome.wustl.edu	37	chr19	21299966	21299966	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tacatcaacataaaagaattCatattagagagaattcttac	4	6	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:21299966C>T	ENST00000596143.1	+	5	821	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAAAGAATTCATATTAGAGA	0.348																																																	0													52	58	56					19																	21299966		2175	4278	6453	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.496C>T	19.37:g.21299966C>T	ENSP00000472368:p.His166Tyr		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H166Y	ENST00000596143.1	37	c.496	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	13.69	2.313338	0.40996	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.889	0.889	0.19212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61874	0.2382	L	0.52126	1.63	0.34396	D	0.69468	D;D;D	0.76494	0.999;0.997;0.994	D;D;D	0.85130	0.997;0.97;0.977	T	0.67074	-0.5762	8	0.52906	T	0.07	.	8.5827	0.33640	0.0:1.0:0.0:0.0	.	167;166;167	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	Y	166	.	ENSP00000291770:H166Y	H	+	1	0	ZNF714	21091806	0.716000	0.27956	0.072000	0.20136	0.071000	0.16799	3.299000	0.51826	0.300000	0.22699	0.306000	0.20318	CAT	ZNF714	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	C	NM_182515		21299966	1	no_errors	ENST00000596143	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21299966	C	T	21299966	3	4	152	1	0	0	0	0	1	0	0	0	18148	826	29	1	506	1	ZNF714	19	21299966	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1394200	21299966	37829017	339	25913										
LGI4	163175	genome.wustl.edu	37	chr19	35625543	35625543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctccaggccaccaccaccccCgccccagccagcagcagcag	8	23	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:35625543C>T	ENST00000310123.3	-	1	561	c.42G>A	c.(40-42)gcG>gcA	p.A14A	LGI4_ENST00000493050.1_Intron|LGI4_ENST00000591633.1_Silent_p.A14A|LGI4_ENST00000392225.3_Silent_p.A14A	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	14					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACCACCCCCGCCCCAGCCA	0.706																																																	0													15	19	17					19																	35625543		2183	4280	6463	SO:0001819	synonymous_variant	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.42G>A	19.37:g.35625543C>T			B2RN53|B9EGS7|Q5M8T1	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A14	ENST00000310123.3	37	c.42	CCDS12444.1	19																																																																																			LGI4	-	NULL		0.706	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	HGNC	protein_coding	OTTHUMT00000103963.1	C			35625543	-1	no_errors	ENST00000310123	ensembl	human	known	70_37	silent	SNP	0.000	T	T	35625543	C	T	35625543	2	4	152	1	0	0	0	0	0	0	0	1	8774	639	23	2		2	LGI4	19	35625543	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	14325577	35625543	23503440	340	25914										
WDR62	284403	genome.wustl.edu	37	chr19	36593869	36593869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggttcacccataccttccctCcccgggcaacccagtgcctt	7	19	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:36593869C>T	ENST00000270301.7	+	28	3340	c.3340C>T	c.(3340-3342)Ccc>Tcc	p.P1114S	WDR62_ENST00000401500.2_Missense_Mutation_p.P1119S			O43379	WDR62_HUMAN	WD repeat domain 62	1114					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TACCTTCCCTCCCCGGGCAAC	0.632																																																	0													49	50	50					19																	36593869		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3340C>T	19.37:g.36593869C>T	ENSP00000270301:p.Pro1114Ser		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1119S	ENST00000270301.7	37	c.3355	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	C	0.488	-0.876767	0.02550	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.51325	0.8;0.71	5.08	-2.65	0.06095	.	0.608775	0.15578	N	0.255087	T	0.27241	0.0668	L	0.41824	1.3	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.31194	-0.9952	10	0.08179	T	0.78	-5.2476	5.3087	0.15817	0.0:0.4241:0.1399:0.436	.	1119;1114	O43379-4;O43379	.;WDR62_HUMAN	S	1119;1114	ENSP00000384792:P1119S;ENSP00000270301:P1114S	ENSP00000270301:P1114S	P	+	1	0	WDR62	41285709	0.000000	0.05858	0.021000	0.16686	0.003000	0.03518	-0.512000	0.06313	-0.527000	0.06374	-0.143000	0.13931	CCC	WDR62	-	NULL		0.632	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	C	NM_015671		36593869	1	no_errors	ENST00000401500	ensembl	human	known	70_37	missense	SNP	0.004	T	T	36593869	C	T	36593869	3	4	152	1	0	0	0	0	1	0	0	0	17344	855	30	1	3465	1	WDR62	19	36593869	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	968326	36593869	22535114	341	25915										
ZNF570	148268	genome.wustl.edu	37	chr19	37961255	37961255	+	5'UTR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaagagccaggaggaagaaaGaatggctgttgggcttctta	15	5	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:37961255G>T	ENST00000330173.1	+	0	528				ZNF570_ENST00000388801.3_Intron|ZNF569_ENST00000316950.6_5'Flank|ZNF570_ENST00000586475.1_Missense_Mutation_p.R56I|ZNF569_ENST00000591073.1_5'Flank	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGAAGAAAGAATGGCTGTT	0.438																																																	0													169	162	165					19																	37961255		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.-2G>T	19.37:g.37961255G>T			A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R56I	ENST00000330173.1	37	c.167	CCDS12504.1	19																																																																																			ZNF570	-	NULL		0.438	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	G	NM_144694		37961255	1	no_errors	ENST00000586475	ensembl	human	putative	70_37	missense	SNP	0.763	T	T	37961255	G	T	37961255	1	4	152	0	1	0	0	0	0	0	0	0	18032	957	33	3		3	ZNF570	19	37961255	5'UTR	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1367386	37961255	21167728	342	25916										
ZNF570	148268	genome.wustl.edu	37	chr19	37975793	37975793	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caggaatgtaggaaagcattCagccagattgcctaccttgc	10	10	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:37975793C>G	ENST00000330173.1	+	5	1798	c.1269C>G	c.(1267-1269)ttC>ttG	p.F423L	ZNF570_ENST00000388801.3_Missense_Mutation_p.F220L|ZNF570_ENST00000586475.1_Missense_Mutation_p.F479L	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCATTCAGCCAGATTG	0.428																																																	0													107	107	107					19																	37975793		2203	4300	6503	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1269C>G	19.37:g.37975793C>G	ENSP00000331540:p.Phe423Leu		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F423L	ENST00000330173.1	37	c.1269	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001437	0.54254	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.46063	0.88;0.88	4.25	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000428	T	0.64023	0.2561	M	0.90483	3.12	0.34323	D	0.686781	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.71600	-0.4544	10	0.87932	D	0	.	9.8414	0.41002	0.0:0.359:0.0:0.641	.	220;423	B4DMP1;Q96NI8	.;ZN570_HUMAN	L	423;220	ENSP00000331540:F423L;ENSP00000373453:F220L	ENSP00000331540:F423L	F	+	3	2	ZNF570	42667633	0.013000	0.17824	0.991000	0.47740	0.988000	0.76386	0.226000	0.17776	-0.333000	0.08476	-0.251000	0.11542	TTC	ZNF570	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	C	NM_144694		37975793	1	no_errors	ENST00000330173	ensembl	human	known	70_37	missense	SNP	0.989	G	G	37975793	C	G	37975793	3	3	152	1	0	0	0	0	1	0	0	0	18032	825	29	1	1283	1	ZNF570	19	37975793	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	14538	37975793	21153190	343	25917										
GRIK5	2901	genome.wustl.edu	37	chr19	42558573	42558573	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctggctgcggttcagctctcGgacagcgctcaccaccacgt	11	16	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:42558573G>A	ENST00000262895.3	-	8	954	c.955C>T	c.(955-957)Cga>Tga	p.R319*	GRIK5_ENST00000301218.4_Nonsense_Mutation_p.R319*|GRIK5_ENST00000593562.1_Nonsense_Mutation_p.R319*	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	319					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCAGCTCTCGGACAGCGCTC	0.632																																																	0													73	57	62					19																	42558573		2203	4300	6503	SO:0001587	stop_gained	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.955C>T	19.37:g.42558573G>A	ENSP00000262895:p.Arg319*		Q8WWG8	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R319*	ENST00000262895.3	37	c.955	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.841662	0.97016	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	.	.	.	5.14	2.7	0.31948	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.5495	0.61723	0.0:0.0:0.6708:0.3292	.	.	.	.	X	319	.	ENSP00000262895:R319X	R	-	1	2	GRIK5	47250413	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.742000	0.47434	1.273000	0.44346	-0.293000	0.09583	CGA	GRIK5	-	pfam_ANF_lig-bd_rcpt		0.632	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	G			42558573	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	42558573	G	A	42558573	4	1	152	1	0	0	0	0	0	1	0	0	6797	1124	39	2	2035	2	GRIK5	19	42558573	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4582780	42558573	16570410	344	25918										
TMEM145	284339	genome.wustl.edu	37	chr19	42820703	42820703	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggcattggcaacgagagtgtGaagatcttgggtgagaatga	16	4	1	5			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:42820703G>A	ENST00000301204.3	+	9	758	c.717G>A	c.(715-717)gtG>gtA	p.V239V	TMEM145_ENST00000598766.1_Silent_p.V263V	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	239					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACGAGAGTGTGAAGATCTTGG	0.577																																																	0													139	123	129					19																	42820703		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.717G>A	19.37:g.42820703G>A				Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.V239	ENST00000301204.3	37	c.717	CCDS12603.1	19																																																																																			TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.577	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42820703	1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42820703	G	A	42820703	2	1	152	1	0	0	0	0	0	0	0	1	16089	1277	45	1		1	TMEM145	19	42820703	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	262130	42820703	16308280	345	25919										
FOSB	2354	genome.wustl.edu	37	chr19	45976112	45976112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctttacacacagtgaagttCaagtcctcggcgaccccttc	7	14	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:45976112C>G	ENST00000353609.3	+	4	1451	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E	ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_3'UTR|FOSB_ENST00000585836.1_Missense_Mutation_p.Q212E|FOSB_ENST00000591858.1_Missense_Mutation_p.Q248E|FOSB_ENST00000443841.2_Missense_Mutation_p.Q144E|FOSB_ENST00000586615.1_Missense_Mutation_p.Q238E|FOSB_ENST00000417353.2_Missense_Mutation_p.Q251E|FOSB_ENST00000592436.1_3'UTR	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	287					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CAGTGAAGTTCAAGTCCTCGG	0.642																																																	0													90	80	84					19																	45976112		2203	4300	6503	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.859C>G	19.37:g.45976112C>G	ENSP00000245919:p.Gln287Glu		A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.Q287E	ENST00000353609.3	37	c.859	CCDS12664.1	19	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108908	0.06924	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.45668	0.89;0.89;0.89	4.89	4.89	0.63831	.	0.542711	0.19895	N	0.103643	T	0.20618	0.0496	N	0.08118	0	0.29577	N	0.849459	B;B;B;B;B	0.13594	0.0;0.002;0.008;0.008;0.004	B;B;B;B;B	0.12156	0.003;0.002;0.007;0.007;0.003	T	0.06197	-1.0840	10	0.02654	T	1	-0.5165	13.4736	0.61295	0.0:1.0:0.0:0.0	.	144;248;212;251;287	E7EPR6;A8VJF0;A8VJF3;E9PHJ3;P53539	.;.;.;.;FOSB_HUMAN	E	287;251;240;144	ENSP00000245919:Q287E;ENSP00000407207:Q251E;ENSP00000414177:Q144E	ENSP00000245919:Q287E	Q	+	1	0	FOSB	50667952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.949000	0.49074	2.568000	0.86640	0.555000	0.69702	CAA	FOSB	-	NULL		0.642	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	HGNC	protein_coding	OTTHUMT00000459561.1	C	NM_006732		45976112	1	no_errors	ENST00000353609	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45976112	C	G	45976112	3	3	152	1	0	0	0	0	1	0	0	0	6004	827	29	1	873	1	FOSB	19	45976112	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3155409	45976112	13152871	346	25920										
SIX5	147912	genome.wustl.edu	37	chr19	46268897	46268897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gggtcggggtctggcagcctCagcacggtgtggggggcctg	21	10	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:46268897C>T	ENST00000317578.6	-	3	2463	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	694					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTGGCAGCCTCAGCACGGTGT	0.677																																																	0													35	41	39					19																	46268897		2203	4300	6503	SO:0001819	synonymous_variant	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2082G>A	19.37:g.46268897C>T				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L694	ENST00000317578.6	37	c.2082	CCDS12673.1	19																																																																																			SIX5	-	NULL		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46268897	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	silent	SNP	1.000	T	T	46268897	C	T	46268897	2	4	152	1	0	0	0	0	0	0	0	1	14380	813	29	1		1	SIX5	19	46268897	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	292785	46268897	12860086	347	25921			2	112		4	4	2708	C		6.94024e-06
SIX5	147912	genome.wustl.edu	37	chr19	46268958	46268958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cttccagcagcccctctgttCctgcgcttagttccagccct	7	18	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:46268958C>T	ENST00000317578.6	-	3	2402	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	674					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CCCCTCTGTTCCTGCGCTTAG	0.697																																																	0													33	39	37					19																	46268958		2201	4300	6501	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2021G>A	19.37:g.46268958C>T	ENSP00000316842:p.Gly674Glu			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G674E	ENST00000317578.6	37	c.2021	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	13.61	2.289353	0.40494	.	.	ENSG00000177045	ENST00000317578	D	0.95690	-3.78	4.09	1.83	0.25207	.	1.618590	0.03283	N	0.186439	D	0.89357	0.6692	N	0.08118	0	0.09310	N	1	B	0.32968	0.392	B	0.25987	0.065	T	0.82208	-0.0571	10	0.66056	D	0.02	-0.2891	10.1407	0.42734	0.0:0.604:0.396:0.0	.	674	Q8N196	SIX5_HUMAN	E	674	ENSP00000316842:G674E	ENSP00000316842:G674E	G	-	2	0	SIX5	50960798	0.001000	0.12720	0.068000	0.19968	0.618000	0.37518	0.402000	0.20965	0.340000	0.23745	-0.304000	0.09214	GGA	SIX5	-	NULL		0.697	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46268958	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	0.042	T	T	46268958	C	T	46268958	3	4	152	1	0	0	0	0	1	0	0	0	14380	855	30	1	202	1	SIX5	19	46268958	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	61	46268958	12860025	348	25922			2	112		4	4	2708	C		6.94024e-06
SIX5	147912	genome.wustl.edu	37	chr19	46270372	46270372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctccaggtcctcaggacttCggctggactcgtcctcagtc	10	15	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:46270372C>T	ENST00000317578.6	-	2	1226	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	282					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTCAGGACTTCGGCTGGACTC	0.682																																																	0													19	20	20					19																	46270372		2191	4275	6466	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.845G>A	19.37:g.46270372C>T	ENSP00000316842:p.Arg282Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R282Q	ENST00000317578.6	37	c.845	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	13.78	2.339038	0.41398	.	.	ENSG00000177045	ENST00000317578	D	0.90004	-2.6	4.83	1.11	0.20524	.	0.242826	0.27245	N	0.020242	T	0.72787	0.3504	N	0.24115	0.695	0.49687	D	0.999819	D	0.55172	0.97	B	0.33799	0.17	T	0.69525	-0.5122	10	0.44086	T	0.13	-0.9428	5.2605	0.15571	0.0:0.489:0.3329:0.1781	.	282	Q8N196	SIX5_HUMAN	Q	282	ENSP00000316842:R282Q	ENSP00000316842:R282Q	R	-	2	0	SIX5	50962212	0.893000	0.30496	0.417000	0.26559	0.948000	0.59901	2.080000	0.41586	1.000000	0.39049	0.561000	0.74099	CGA	SIX5	-	NULL		0.682	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46270372	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	0.671	T	T	46270372	C	T	46270372	3	4	152	1	0	0	0	0	1	0	0	0	14380	884	31	1	1382	1	SIX5	19	46270372	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1414	46270372	12858611	349	25923			2	112		4	4	2708	C		6.94024e-06
SIX5	147912	genome.wustl.edu	37	chr19	46271604	46271604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcggcctcatggtagcgcgCgcgcaggtagaggtcctgca	15	13	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:46271604C>T	ENST00000317578.6	-	1	880	c.499G>A	c.(499-501)Gcg>Acg	p.A167T	SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	167					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGTAGCGCGCGCGCAGGTAG	0.701																																																	0													8	9	9					19																	46271604		2166	4213	6379	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.499G>A	19.37:g.46271604C>T	ENSP00000316842:p.Ala167Thr			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A167T	ENST00000317578.6	37	c.499	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	33	5.224242	0.95139	.	.	ENSG00000177045	ENST00000317578	D	0.95069	-3.6	3.59	3.59	0.41128	.	0.210963	0.39083	N	0.001476	D	0.96122	0.8736	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96319	0.9235	10	0.87932	D	0	-15.631	13.0904	0.59164	0.0:1.0:0.0:0.0	.	167	Q8N196	SIX5_HUMAN	T	167	ENSP00000316842:A167T	ENSP00000316842:A167T	A	-	1	0	SIX5	50963444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.635000	0.67841	2.010000	0.58986	0.561000	0.74099	GCG	SIX5	-	NULL		0.701	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46271604	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46271604	C	T	46271604	3	4	152	1	0	0	0	0	1	0	0	0	14380	768	27	2	1732	2	SIX5	19	46271604	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1232	46271604	12857379	350	25924			2	112		4	4	2708	C		6.94024e-06
GRIN2D	2906	genome.wustl.edu	37	chr19	48908030	48908030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgcagctgggctcttccaccGagcaacagcttcaggtcatc	10	14	3	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:48908030G>A	ENST00000263269.3	+	3	593	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	169					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCTTCCACCGAGCAACAGCT	0.602																																																	0													122	117	119					19																	48908030		2203	4300	6503	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.505G>A	19.37:g.48908030G>A	ENSP00000263269:p.Glu169Lys			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E169K	ENST00000263269.3	37	c.505	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394275	0.62066	.	.	ENSG00000105464	ENST00000263269	D	0.92545	-3.06	5.03	5.03	0.67393	Extracellular ligand-binding receptor (1);	0.127607	0.50627	D	0.000117	D	0.86715	0.5999	L	0.42744	1.35	0.49483	D	0.999793	P	0.42010	0.768	B	0.34652	0.187	D	0.86558	0.1839	10	0.42905	T	0.14	.	11.841	0.52355	0.0857:0.0:0.9143:0.0	.	169	O15399	NMDE4_HUMAN	K	169	ENSP00000263269:E169K	ENSP00000263269:E169K	E	+	1	0	GRIN2D	53599842	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	6.652000	0.74377	2.522000	0.85027	0.650000	0.86243	GAG	GRIN2D	-	pfam_ANF_lig-bd_rcpt		0.602	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	G			48908030	1	no_errors	ENST00000263269	ensembl	human	known	70_37	missense	SNP	0.993	A	A	48908030	G	A	48908030	3	1	152	1	0	0	0	0	1	0	0	0	6802	1059	37	1	511	1	GRIN2D	19	48908030	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2636426	48908030	10220953	351	25925										
PPFIA3	8541	genome.wustl.edu	37	chr19	49652868	49652868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gttccgggagaaggacctccGaggcgtaactcccgactcag	13	13	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:49652868G>A	ENST00000334186.4	+	28	3768	c.3419G>A	c.(3418-3420)cGa>cAa	p.R1140Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R1131Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1140					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AAGGACCTCCGAGGCGTAACT	0.647																																																	0													40	40	40					19																	49652868		2203	4300	6503	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3419G>A	19.37:g.49652868G>A	ENSP00000335614:p.Arg1140Gln		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R1140Q	ENST00000334186.4	37	c.3419	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834526	0.91036	.	.	ENSG00000177380	ENST00000334186	T	0.18657	2.2	4.12	4.12	0.48240	.	0.000000	0.39341	U	0.001386	T	0.37919	0.1021	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.66716	0.873;0.946	T	0.15407	-1.0438	10	0.54805	T	0.06	-5.7059	15.6618	0.77193	0.0:0.0:1.0:0.0	.	1131;1140	O75145-2;O75145	.;LIPA3_HUMAN	Q	1140	ENSP00000335614:R1140Q	ENSP00000335614:R1140Q	R	+	2	0	PPFIA3	54344680	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.218000	0.65257	2.299000	0.77371	0.462000	0.41574	CGA	PPFIA3	-	NULL		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49652868	1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49652868	G	A	49652868	3	1	152	1	0	0	0	0	1	0	0	0	12335	1058	37	1	3525	1	PPFIA3	19	49652868	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	744838	49652868	9476115	352	25926										
HRC	3270	genome.wustl.edu	37	chr19	49656988	49656988	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtgcctttctctccctgctCtgaactttcatcgtcttcct	6	15	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:49656988C>G	ENST00000252825.4	-	1	1693	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	HRC_ENST00000595625.1_Missense_Mutation_p.E503Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	503					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCTCCCTGCTCTGAACTTTCA	0.542																																					Melanoma(37;75 1097 24567 25669 30645)												0													116	98	104					19																	49656988		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1507G>C	19.37:g.49656988C>G	ENSP00000252825:p.Glu503Gln		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E503Q	ENST00000252825.4	37	c.1507	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	5.291	0.239095	0.10023	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.59083	0.29	2.63	0.148	0.14843	.	.	.	.	.	T	0.61350	0.2340	L	0.42245	1.32	0.09310	N	1	D	0.63880	0.993	D	0.72982	0.979	T	0.48399	-0.9039	9	0.49607	T	0.09	-5.9179	3.8872	0.09103	0.0:0.5976:0.2497:0.1527	.	503	P23327	SRCH_HUMAN	Q	503;202	ENSP00000252825:E503Q	ENSP00000252825:E503Q	E	-	1	0	HRC	54348800	0.000000	0.05858	0.007000	0.13788	0.046000	0.14306	-0.342000	0.07801	0.129000	0.18514	0.462000	0.41574	GAG	HRC	-	NULL		0.542	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49656988	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.125	G	G	49656988	C	G	49656988	3	3	152	1	0	0	0	0	1	0	0	0	7372	922	32	1	616	1	HRC	19	49656988	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	4120	49656988	9471995	353	25927										
HRC	3270	genome.wustl.edu	37	chr19	49657295	49657295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggaagtcctcttcatcactCttgtggcctcgaggttggtg	12	10	4	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:49657295C>G	ENST00000252825.4	-	1	1386	c.1200G>C	c.(1198-1200)aaG>aaC	p.K400N	HRC_ENST00000595625.1_Missense_Mutation_p.K400N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	400					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCACTCTTGTGGCCTC	0.517																																					Melanoma(37;75 1097 24567 25669 30645)												0													118	110	113					19																	49657295		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1200G>C	19.37:g.49657295C>G	ENSP00000252825:p.Lys400Asn		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.K400N	ENST00000252825.4	37	c.1200	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	7.117	0.577121	0.13686	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.32515	1.45	3.18	2.07	0.26955	.	.	.	.	.	T	0.21801	0.0525	N	0.19112	0.55	0.09310	N	1	P	0.47409	0.895	P	0.47044	0.535	T	0.10245	-1.0638	9	0.20519	T	0.43	-7.4699	7.3737	0.26817	0.2747:0.7253:0.0:0.0	.	400	P23327	SRCH_HUMAN	N	400;99;370	ENSP00000252825:K400N	ENSP00000252825:K400N	K	-	3	2	HRC	54349107	0.004000	0.15560	0.013000	0.15412	0.197000	0.23852	1.159000	0.31749	0.392000	0.25172	0.462000	0.41574	AAG	HRC	-	NULL		0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657295	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.051	G	G	49657295	C	G	49657295	3	3	152	1	0	0	0	0	1	0	0	0	7372	912	32	1	923	1	HRC	19	49657295	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	307	49657295	9471688	354	25928										
TBC1D17	79735	genome.wustl.edu	37	chr19	50386048	50386048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggggcctcggccaaccgtgGagcggggccctccagttaca	15	14	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:50386048G>A	ENST00000221543.5	+	8	1125	c.826G>A	c.(826-828)Gag>Aag	p.E276K	TBC1D17_ENST00000535102.2_Missense_Mutation_p.E243K	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	276	Required for interaction with OPTN.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCCAACCGTGGAGCGGGGCCC	0.672																																																	0													18	21	20					19																	50386048		2202	4295	6497	SO:0001583	missense	79735			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.826G>A	19.37:g.50386048G>A	ENSP00000221543:p.Glu276Lys		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E276K	ENST00000221543.5	37	c.826	CCDS12785.1	19	.	.	.	.	.	.	.	.	.	.	G	1.250	-0.618853	0.03663	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.09445	2.98;2.99	4.89	0.0328	0.14177	.	1.002150	0.08037	N	0.994445	T	0.07279	0.0184	L	0.41632	1.29	0.28179	N	0.92825	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.44772	-0.9306	10	0.16896	T	0.51	-12.876	1.4896	0.02454	0.2372:0.139:0.4661:0.1577	.	243;276	F5H1W7;Q9HA65	.;TBC17_HUMAN	K	276;243	ENSP00000221543:E276K;ENSP00000446323:E243K	ENSP00000221543:E276K	E	+	1	0	TBC1D17	55077860	0.988000	0.35896	0.997000	0.53966	0.078000	0.17371	0.988000	0.29616	0.271000	0.22005	-0.291000	0.09656	GAG	TBC1D17	-	NULL		0.672	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D17	HGNC	protein_coding	OTTHUMT00000466404.1	G	NM_024682		50386048	1	no_errors	ENST00000221543	ensembl	human	known	70_37	missense	SNP	0.649	A	A	50386048	G	A	50386048	3	1	152	1	0	0	0	0	1	0	0	0	15636	1175	41	1	856	1	TBC1D17	19	50386048	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	728753	50386048	8742935	355	25929										
SYT3	84258	genome.wustl.edu	37	chr19	51133404	51133404	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gaggtcagagtctgctgggtGaggggtcggggcagggctgg	23	6	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:51133404G>A	ENST00000338916.4	-	3	1332	c.699C>T	c.(697-699)ctC>ctT	p.L233L	SYT3_ENST00000544769.1_Silent_p.L233L|SYT3_ENST00000600079.1_Silent_p.L233L|SYT3_ENST00000593901.1_Silent_p.L233L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	233					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCTGCTGGGTGAGGGGTCGGG	0.642																																																	0													15	16	16					19																	51133404		2202	4295	6497	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.699C>T	19.37:g.51133404G>A			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L233	ENST00000338916.4	37	c.699	CCDS12798.1	19																																																																																			SYT3	-	NULL		0.642	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	G	NM_032298		51133404	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51133404	G	A	51133404	2	1	152	1	0	0	0	0	0	0	0	1	15505	1277	45	1		1	SYT3	19	51133404	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	747356	51133404	7995579	356	25930										
SIGLEC9	27180	genome.wustl.edu	37	chr19	51631765	51631765	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgtcaggggttcagcctctCaggtgagtgatgtggactct	14	9	4	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:51631765C>T	ENST00000250360.3	+	6	1268	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	SIGLEC9_ENST00000440804.3_Nonsense_Mutation_p.Q401*	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	401					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TTCAGCCTCTCAGGTGAGTGA	0.582																																																	0													94	81	85					19																	51631765		2203	4300	6503	SO:0001587	stop_gained	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1201C>T	19.37:g.51631765C>T	ENSP00000250360:p.Gln401*		Q6GTU4|Q9BYI9	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.Q401*	ENST00000250360.3	37	c.1201	CCDS12825.1	19	.	.	.	.	.	.	.	.	.	.	.	16.32	3.089411	0.55968	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	.	.	.	2.11	-0.447	0.12234	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.1017	0.20051	0.5437:0.4563:0.0:0.0	.	.	.	.	X	401	.	ENSP00000250360:Q401X	Q	+	1	0	SIGLEC9	56323577	0.222000	0.23652	0.089000	0.20774	0.017000	0.09413	0.218000	0.17622	-0.023000	0.13963	0.407000	0.27541	CAG	SIGLEC9	-	NULL		0.582	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	C	NM_014441		51631765	1	no_errors	ENST00000440804	ensembl	human	known	70_37	nonsense	SNP	0.106	T	T	51631765	C	T	51631765	4	4	152	1	0	0	0	0	0	1	0	0	14345	827	29	1	1223	1	SIGLEC9	19	51631765	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	498361	51631765	7497218	357	25931										
SIGLEC5	8778	genome.wustl.edu	37	chr19	52115604	52115604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tggagctccttttgttcttcCaagggaggggcatccccagg	13	11	1	0	rs147945480		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:52115604C>T	ENST00000534261.2	-	10	1935	c.1536G>A	c.(1534-1536)ttG>ttA	p.L512L	SIGLEC5_ENST00000429354.3_Silent_p.L512L|SIGLEC5_ENST00000599649.1_Silent_p.L512L|SIGLEC5_ENST00000222107.4_Silent_p.L512L|SIGLEC5_ENST00000570106.2_Silent_p.L512L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	512					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTTGTTCTTCCAAGGGAGGGG	0.562													C|||	1	0.000199681	0	0	5008	,	,		17948	0		0	False		,,,				2504	0.001																0								C		1,4405	2.1+/-5.4	0,1,2202	108	108	108		1536	-7	0	19	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	SIGLEC5	NM_003830.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		512/552	52115604	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8778			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1536G>A	19.37:g.52115604C>T				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L512	ENST00000534261.2	37	c.1536	CCDS33088.1	19																																																																																			SIGLEC5	-	NULL		0.562	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	C	NM_003830		52115604	-1	no_errors	ENST00000222107	ensembl	human	known	70_37	silent	SNP	0.000	T	T	52115604	C	T	52115604	2	4	152	1	0	0	0	0	0	0	0	1	14341	593	21	4		4	SIGLEC5	19	52115604	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	483839	52115604	7013379	358	25932										
ZNF28	7576	genome.wustl.edu	37	chr19	53303790	53303790	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcattacacttgtaaggcttCtctccagtgtgaattatact	6	9	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:53303790C>T	ENST00000457749.2	-	4	1427	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	ZNF28_ENST00000360272.4_Silent_p.E383E|ZNF28_ENST00000414252.2_Silent_p.E383E|ZNF28_ENST00000438150.2_Silent_p.E383E	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGCTTCTCTCCAGTGT	0.373																																																	0													112	118	116					19																	53303790		2203	4300	6503	SO:0001819	synonymous_variant	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1308G>A	19.37:g.53303790C>T			A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E436	ENST00000457749.2	37	c.1308	CCDS33093.2	19																																																																																			ZNF28	-	pfscan_Znf_C2H2		0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	C	NM_006969		53303790	-1	no_errors	ENST00000457749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53303790	C	T	53303790	2	4	152	1	0	0	0	0	0	0	0	1	17843	912	32	1		1	ZNF28	19	53303790	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1188186	53303790	5825193	359	25933										
ZNF761	388561	genome.wustl.edu	37	chr19	53958209	53958209	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gctttcattcgcatctgcctGaaatgcacatatttcagacc	6	12	3	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr19:53958209G>A	ENST00000454407.1	+	0	901							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCATCTGCCTGAAATGCACAT	0.383																																																	0													107	108	107					19																	53958209		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958209G>A			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.383	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53958209	1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.036	A	A	53958209	G	A	53958209	1	1	152	0	1	0	0	0	0	0	0	0	18166	1291	45	1		1	ZNF761	19	53958209	RNA	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	654419	53958209	5170774	360	25934										
GNRH2	2797	genome.wustl.edu	37	chr20	3026354	3026354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cgcagcccgagagccccgccCcgccccgccatcctccaata	8	23	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:3026354C>T	ENST00000245983.2	+	4	386	c.335C>T	c.(334-336)cCc>cTc	p.P112L	GNRH2_ENST00000380346.2_Missense_Mutation_p.P104L|GNRH2_ENST00000359987.1_Missense_Mutation_p.P104L|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380347.2_Missense_Mutation_p.P105L|GNRH2_ENST00000359100.2_Missense_Mutation_p.P105L	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	112					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						GAGCCCCGCCCCGCCCCGCCA	0.632																																																	0													49	52	51					20																	3026354		2203	4299	6502	SO:0001583	missense	2797			AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"Endogenous ligands"	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.335C>T	20.37:g.3026354C>T	ENSP00000245983:p.Pro112Leu		Q14C68|Q14C69|Q9BYN9|Q9BYP0	Missense_Mutation	SNP	pfam_GnRH	p.P112L	ENST00000245983.2	37	c.335	CCDS13040.1	20	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170127	0.57584	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	T;T;T;T;T	0.55052	0.56;0.55;0.54;0.55;0.54	3.76	-3.64	0.04515	.	.	.	.	.	T	0.30166	0.0756	L	0.27053	0.805	0.09310	N	1	B;B;B	0.27732	0.006;0.187;0.187	B;B;B	0.21546	0.003;0.035;0.035	T	0.27123	-1.0083	9	0.87932	D	0	.	1.5529	0.02578	0.2187:0.3893:0.2432:0.1488	.	112;104;105	O43555;O43555-2;O43555-3	GON2_HUMAN;.;.	L	112;105;104;105;104	ENSP00000245983:P112L;ENSP00000352003:P105L;ENSP00000353077:P104L;ENSP00000369705:P105L;ENSP00000369704:P104L	ENSP00000245983:P112L	P	+	2	0	GNRH2	2974354	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	0.983000	0.29552	-0.344000	0.08338	-0.335000	0.08231	CCC	GNRH2	-	NULL		0.632	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNRH2	HGNC	protein_coding	OTTHUMT00000077694.2	C	NM_001501		3026354	1	no_errors	ENST00000245983	ensembl	human	known	70_37	missense	SNP	0.000	T	T	3026354	C	T	3026354	3	4	152	1	0	0	0	0	1	0	0	0	6567	623	22	4	345	4	GNRH2	20	3026354	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09		3026354	59999166	361	25935										
PCSK2	5126	genome.wustl.edu	37	chr20	17434536	17434536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	aggactgccctgtacgacgaGagctgctcttccaccttggc	11	14	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:17434536G>C	ENST00000262545.2	+	9	1350	c.1035G>C	c.(1033-1035)gaG>gaC	p.E345D	PCSK2_ENST00000377899.1_Missense_Mutation_p.E326D|PCSK2_ENST00000536609.1_Missense_Mutation_p.E310D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	345	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGTACGACGAGAGCTGCTCTT	0.587																																																	0													143	108	119					20																	17434536		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1035G>C	20.37:g.17434536G>C	ENSP00000262545:p.Glu345Asp		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E345D	ENST00000262545.2	37	c.1035	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232650	0.79688	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.44083	0.93;0.93;0.93	5.69	4.56	0.56223	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63804	-0.6554	10	0.87932	D	0	-41.0636	7.6973	0.28602	0.2121:0.0:0.7879:0.0	.	310;345	B4DFQ3;P16519	.;NEC2_HUMAN	D	326;345;310	ENSP00000367131:E326D;ENSP00000262545:E345D;ENSP00000437458:E310D	ENSP00000262545:E345D	E	+	3	2	PCSK2	17382536	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.335000	0.52105	2.692000	0.91855	0.655000	0.94253	GAG	PCSK2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.587	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	G	NM_002594		17434536	1	no_errors	ENST00000262545	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17434536	G	C	17434536	3	2	152	1	0	0	0	0	1	0	0	0	11625	933	33	1	1069	1	PCSK2	20	17434536	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	14408182	17434536	45590984	362	25936										
ACSS1	84532	genome.wustl.edu	37	chr20	25000666	25000666	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgaccccagggtccgcaggGaggagcgatcatacttcttc	12	13	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:25000666G>C	ENST00000323482.4	-	7	1305	c.1226C>G	c.(1225-1227)tCc>tGc	p.S409C	ACSS1_ENST00000542618.1_Missense_Mutation_p.S288C|ACSS1_ENST00000432802.2_Missense_Mutation_p.S409C|ACSS1_ENST00000537502.1_Missense_Mutation_p.S326C	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	409					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTCCGCAGGGAGGAGCGATC	0.582																																																	0													124	105	111					20																	25000666		2203	4300	6503	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1226C>G	20.37:g.25000666G>C	ENSP00000316924:p.Ser409Cys		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.S409C	ENST00000323482.4	37	c.1226	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999914	0.93227	.	.	ENSG00000154930	ENST00000323482;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.68	5.68	0.88126	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.82010	-0.0669	10	0.87932	D	0	-35.7161	18.3739	0.90428	0.0:0.0:1.0:0.0	.	409;409;326	Q9NUB1-2;Q9NUB1;Q6ZV30	.;ACS2L_HUMAN;.	C	409;326;409;288	ENSP00000316924:S409C;ENSP00000439304:S326C;ENSP00000388793:S409C;ENSP00000437657:S288C	ENSP00000316924:S409C	S	-	2	0	ACSS1	24948666	1.000000	0.71417	0.935000	0.37517	0.991000	0.79684	9.352000	0.97076	2.669000	0.90835	0.563000	0.77884	TCC	ACSS1	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig		0.582	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	G	NM_032501		25000666	-1	no_errors	ENST00000323482	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25000666	G	C	25000666	3	2	152	1	0	0	0	0	1	0	0	0	188	1174	41	1	875	1	ACSS1	20	25000666	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	7566130	25000666	38024854	363	25937										
NCOA6	23054	genome.wustl.edu	37	chr20	33328193	33328193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgggtagaagttctggatggGatcccaccttctcctccact	10	12	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:33328193G>A	ENST00000374796.2	-	12	8437	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1956F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1956	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTCTGGATGGGATCCCACCTT	0.502																																																	0													72	62	65					20																	33328193		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5867C>T	20.37:g.33328193G>A	ENSP00000363929:p.Ser1956Phe		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.S1956F	ENST00000374796.2	37	c.5867	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820963	0.50633	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24350	1.86;1.86	5.27	5.27	0.74061	.	0.117418	0.37577	N	0.002039	T	0.20941	0.0504	N	0.14661	0.345	0.36250	D	0.853873	B	0.22480	0.07	B	0.31016	0.123	T	0.19844	-1.0293	10	0.66056	D	0.02	-2.2549	17.2575	0.87061	0.0:0.0:1.0:0.0	.	1956	Q14686	NCOA6_HUMAN	F	1956	ENSP00000363929:S1956F;ENSP00000351894:S1956F	ENSP00000351894:S1956F	S	-	2	0	NCOA6	32791854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.129000	0.42055	2.758000	0.94735	0.561000	0.74099	TCC	NCOA6	-	NULL		0.502	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	G	NM_014071		33328193	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33328193	G	A	33328193	3	1	152	1	0	0	0	0	1	0	0	0	10257	1174	41	1	344	1	NCOA6	20	33328193	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	8327527	33328193	29697327	364	25938										
RBL1	5933	genome.wustl.edu	37	chr20	35690616	35690616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctgctcccaaaaagatcctCtcatcaaaatcaccaacagt	3	14	4	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:35690616C>G	ENST00000373664.3	-	8	1020	c.954G>C	c.(952-954)gaG>gaC	p.E318D	RBL1_ENST00000344359.3_Missense_Mutation_p.E318D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	318					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAAAGATCCTCTCATCAAAAT	0.408																																																	0													144	127	133					20																	35690616		2203	4300	6503	SO:0001583	missense	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.954G>C	20.37:g.35690616C>G	ENSP00000362768:p.Glu318Asp		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.E318D	ENST00000373664.3	37	c.954	CCDS13289.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.838973|3.838973	0.71373|0.71373	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000373664;ENST00000344359|ENST00000525052	D;D|.	0.96522|.	-3.8;-4.04|.	5.04|5.04	2.98|2.98	0.34508|0.34508	.|.	0.100769|.	0.64402|.	D|.	0.000002|.	T|T	0.75273|0.75273	0.3827|0.3827	M|M	0.86864|0.86864	2.845|2.845	0.51767|0.51767	D|D	0.999933|0.999933	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.77557|.	0.949;0.99|.	T|T	0.77040|0.77040	-0.2735|-0.2735	10|5	0.62326|.	D|.	0.03|.	-16.7788|-16.7788	9.4088|9.4088	0.38477|0.38477	0.0:0.7565:0.0:0.2435|0.0:0.7565:0.0:0.2435	.|.	318;318|.	P28749-2;P28749|.	.;RBL1_HUMAN|.	D|T	318|123	ENSP00000362768:E318D;ENSP00000343646:E318D|.	ENSP00000343646:E318D|.	E|R	-|-	3|2	2|0	RBL1|RBL1	35124030|35124030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.605000|3.605000	0.54088|0.54088	1.350000|1.350000	0.45770|0.45770	-0.140000|-0.140000	0.14226|0.14226	GAG|AGA	RBL1	-	NULL		0.408	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	C	NM_002895		35690616	-1	no_errors	ENST00000373664	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35690616	C	G	35690616	3	3	152	1	0	0	0	0	1	0	0	0	13139	912	32	1	2321	1	RBL1	20	35690616	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2362423	35690616	27334904	365	25939										
EMILIN3	90187	genome.wustl.edu	37	chr20	39991134	39991134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctcctggcgcagggccagctCccggccatcaaggctctggt	13	16	2	0	rs199798808		TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:39991134C>G	ENST00000332312.3	-	4	1267	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	359						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGGGCCAGCTCCCGGCCATCA	0.672																																																	0								C	GLN/GLU	0,4400		0,0,2200	13	15	14		1075	5.1	1	20		14	1,8587		0,1,4293	no	missense	EMILIN3	NM_052846.1	29	0,1,6493	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	359/767	39991134	1,12987	2200	4294	6494	SO:0001583	missense	90187			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1075G>C	20.37:g.39991134C>G	ENSP00000332806:p.Glu359Gln		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	pfam_EMI_domain,pfscan_EMI_domain	p.E359Q	ENST00000332312.3	37	c.1075	CCDS13316.1	20	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788884	0.70337	0.0	1.16E-4	ENSG00000183798	ENST00000332312	T	0.29397	1.57	5.14	5.14	0.70334	.	0.143577	0.45126	D	0.000399	T	0.55545	0.1927	M	0.68952	2.095	0.47621	D	0.999475	D	0.89917	1.0	D	0.83275	0.996	T	0.54403	-0.8299	9	.	.	.	-23.7548	18.5996	0.91244	0.0:1.0:0.0:0.0	.	359	Q9NT22	EMIL3_HUMAN	Q	359	ENSP00000332806:E359Q	.	E	-	1	0	EMILIN3	39424548	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.477000	0.60223	2.402000	0.81655	0.561000	0.74099	GAG	EMILIN3	-	NULL		0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN3	HGNC	protein_coding	OTTHUMT00000106876.2	C	XM_029741		39991134	-1	no_errors	ENST00000332312	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39991134	C	G	39991134	3	3	152	1	0	0	0	0	1	0	0	0	5107	864	30	1	1229	1	EMILIN3	20	39991134	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	4300518	39991134	23034386	366	25940										
SEMG2	6407	genome.wustl.edu	37	chr20	43850898	43850898	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tagttaacaaacaacaacgtGagactaaaaattctcatcaa	4	8	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:43850898G>A	ENST00000372769.3	+	2	715	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	209	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACAACAACGTGAGACTAAAAA	0.398																																																	0													89	82	84					20																	43850898		2203	4300	6503	SO:0001583	missense	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.625G>A	20.37:g.43850898G>A	ENSP00000361855:p.Glu209Lys		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	pfam_Semenogelin	p.E209K	ENST00000372769.3	37	c.625	CCDS13346.1	20	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400474	0.25291	.	.	ENSG00000124157	ENST00000372769	T	0.12984	2.63	1.38	-2.75	0.05914	.	.	.	.	.	T	0.26085	0.0636	M	0.71036	2.16	0.09310	N	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.21415	-1.0246	9	0.62326	D	0.03	.	0.4182	0.00452	0.3178:0.258:0.2469:0.1773	.	209;209;209	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	K	209	ENSP00000361855:E209K	ENSP00000361855:E209K	E	+	1	0	SEMG2	43284312	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.643000	0.05421	-1.990000	0.00978	-0.768000	0.03414	GAG	SEMG2	-	pfam_Semenogelin		0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	G	NM_003008		43850898	1	no_errors	ENST00000372769	ensembl	human	known	70_37	missense	SNP	0.000	A	A	43850898	G	A	43850898	3	1	152	1	0	0	0	0	1	0	0	0	14075	1291	45	1	631	1	SEMG2	20	43850898	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3859764	43850898	19174622	367	25941										
PARD6B	84612	genome.wustl.edu	37	chr20	49366649	49366649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cctcatcataacagtgagacCggcaaaccagaggaataatg	9	10	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:49366649C>T	ENST00000371610.2	+	3	986	c.743C>T	c.(742-744)cCg>cTg	p.P248L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	248	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACAGTGAGACCGGCAAACCAG	0.443																																																	0													129	124	125					20																	49366649		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.743C>T	20.37:g.49366649C>T	ENSP00000360672:p.Pro248Leu		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.P248L	ENST00000371610.2	37	c.743	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.068220	0.93950	.	.	ENSG00000124171	ENST00000371610	T	0.20200	2.09	6.02	6.02	0.97574	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71354	-0.4618	10	0.87932	D	0	-22.0075	20.5407	0.99260	0.0:1.0:0.0:0.0	.	248	Q9BYG5	PAR6B_HUMAN	L	248	ENSP00000360672:P248L	ENSP00000360672:P248L	P	+	2	0	PARD6B	48800056	1.000000	0.71417	0.226000	0.23910	0.962000	0.63368	7.416000	0.80143	2.865000	0.98341	0.655000	0.94253	CCG	PARD6B	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2	C	NM_032521		49366649	1	no_errors	ENST00000371610	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49366649	C	T	49366649	3	4	152	1	0	0	0	0	1	0	0	0	11470	652	23	2	753	2	PARD6B	20	49366649	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5515751	49366649	13658871	368	25942										
LAMA5	3911	genome.wustl.edu	37	chr20	60899537	60899537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggaggcagcggtctgagtgtCcatggcactgacaagggaca	16	9	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:60899537C>G	ENST00000252999.3	-	42	5669	c.5603G>C	c.(5602-5604)gGa>gCa	p.G1868A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1868	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCTGAGTGTCCATGGCACTG	0.627																																																	0													54	45	48					20																	60899537		2200	4299	6499	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5603G>C	20.37:g.60899537C>G	ENSP00000252999:p.Gly1868Ala		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.G1868A	ENST00000252999.3	37	c.5603	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115431	0.77323	.	.	ENSG00000130702	ENST00000252999	T	0.66280	-0.2	4.55	4.55	0.56014	TNFR/CD27/30/40/95 cysteine-rich region (1);EGF-like, laminin (3);	0.000000	0.85682	U	0.000000	D	0.84889	0.5572	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89996	0.4111	10	0.87932	D	0	.	17.2958	0.87170	0.0:1.0:0.0:0.0	.	1868	O15230	LAMA5_HUMAN	A	1868	ENSP00000252999:G1868A	ENSP00000252999:G1868A	G	-	2	0	LAMA5	60332932	1.000000	0.71417	0.989000	0.46669	0.286000	0.27126	7.424000	0.80242	2.074000	0.62210	0.579000	0.79373	GGA	LAMA5	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_TNFR/NGFR_Cys_rich_reg		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	C	NM_005560		60899537	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60899537	C	G	60899537	3	3	152	1	0	0	0	0	1	0	0	0	8629	855	30	1	5640	1	LAMA5	20	60899537	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	11532888	60899537	2125983	369	25943										
TNFRSF6B	8771	genome.wustl.edu	37	chr20	62328684	62328684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttccctcctggctgcaggcaCccccagccagaacacgcagt	9	18	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:62328684C>T	ENST00000369996.1	+	2	528	c.428C>T	c.(427-429)aCc>aTc	p.T143I	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	143					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GCTGCAGGCACCCCCAGCCAG	0.677																																																	0													27	27	27					20																	62328684		2181	4285	6466	SO:0001583	missense	8771			AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.428C>T	20.37:g.62328684C>T	ENSP00000359013:p.Thr143Ile			Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	p.T143I	ENST00000369996.1	37	c.428	CCDS13532.1	20	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076143	0.55646	.	.	ENSG00000243509	ENST00000370006;ENST00000369996	D	0.95103	-3.61	4.2	3.2	0.36748	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	D	0.95092	0.8410	M	0.68952	2.095	0.23309	N	0.997931	D	0.69078	0.997	P	0.57101	0.813	D	0.88227	0.2901	9	0.72032	D	0.01	-27.1048	7.8644	0.29528	0.183:0.6396:0.1774:0.0	.	143	O95407	TNF6B_HUMAN	I	143	ENSP00000359013:T143I	ENSP00000359010:T143I	T	+	2	0	TNFRSF6B	61799128	0.000000	0.05858	0.685000	0.30070	0.016000	0.09150	0.526000	0.22971	0.695000	0.31675	0.561000	0.74099	ACC	TNFRSF6B	-	smart_TNFR/NGFR_Cys_rich_reg		0.677	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF6B	HGNC	protein_coding	OTTHUMT00000080182.1	C			62328684	1	no_errors	ENST00000369996	ensembl	human	known	70_37	missense	SNP	0.980	T	T	62328684	C	T	62328684	3	4	152	1	0	0	0	0	1	0	0	0	16328	507	18	4	434	4	TNFRSF6B	20	62328684	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1429147	62328684	696836	370	25944										
ZBTB46	140685	genome.wustl.edu	37	chr20	62421190	62421190	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttacttgagtctcggctgctGaacggccaccccgacgtcgg	12	14	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr20:62421190G>A	ENST00000245663.4	-	2	1071	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ZBTB46_ENST00000480766.1_5'UTR|ZBTB46_ENST00000302995.2_Silent_p.F307F|ZBTB46_ENST00000395104.1_Silent_p.F307F	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	307					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCGGCTGCTGAACGGCCACC	0.647																																																	0													64	70	68					20																	62421190		2203	4299	6502	SO:0001819	synonymous_variant	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.921C>T	20.37:g.62421190G>A			E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F307	ENST00000245663.4	37	c.921	CCDS13538.1	20																																																																																			ZBTB46	-	NULL		0.647	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	G	NM_025224		62421190	-1	no_errors	ENST00000245663	ensembl	human	known	70_37	silent	SNP	0.999	A	A	62421190	G	A	62421190	2	1	152	1	0	0	0	0	0	0	0	1	17577	1281	45	1		1	ZBTB46	20	62421190	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	92506	62421190	604330	371	25945										
SON	6651	genome.wustl.edu	37	chr21	34926794	34926794	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	caagccttagagctggcattGaaggacctttacttgcaagt	10	9	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr21:34926794G>C	ENST00000356577.4	+	3	5732	c.5257G>C	c.(5257-5259)Gaa>Caa	p.E1753Q	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E1753Q|SON_ENST00000381679.4_Missense_Mutation_p.E1753Q|SON_ENST00000290239.6_Missense_Mutation_p.E1753Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1753					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGCTGGCATTGAAGGACCTTT	0.443																																																	0													130	124	126					21																	34926794		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5257G>C	21.37:g.34926794G>C	ENSP00000348984:p.Glu1753Gln		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.E1753Q	ENST00000356577.4	37	c.5257	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.93|14.93	2.682440|2.682440	0.47991|0.47991	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.20463|.	2.32;2.27;2.24;2.07|.	5.6|5.6	3.68|3.68	0.42216|0.42216	.|.	0.119412|.	0.37857|.	N|.	0.001915|.	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.56769|0.56769	1.78|1.78	0.26073|0.26073	N|N	0.981194|0.981194	P;B;B;B;D|.	0.71674|.	0.713;0.147;0.23;0.23;0.998|.	B;B;B;B;D|.	0.79784|.	0.225;0.035;0.077;0.077;0.993|.	T|T	0.33701|0.33701	-0.9858|-0.9858	10|5	0.30078|.	T|.	0.28|.	.|.	5.2916|5.2916	0.15729|0.15729	0.1773:0.1694:0.6533:0.0|0.1773:0.1694:0.6533:0.0	.|.	1753;1753;1434;1753;1753|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	Q|F	1753|747	ENSP00000348984:E1753Q;ENSP00000290239:E1753Q;ENSP00000300278:E1753Q;ENSP00000371095:E1753Q|.	ENSP00000290239:E1753Q|.	E|L	+|+	1|3	0|2	SON|SON	33848664|33848664	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.348000|3.348000	0.52209|0.52209	1.358000|1.358000	0.45922|0.45922	0.591000|0.591000	0.81541|0.81541	GAA|TTG	SON	-	NULL		0.443	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	G	NM_138927		34926794	1	no_errors	ENST00000356577	ensembl	human	known	70_37	missense	SNP	0.900	C	C	34926794	G	C	34926794	3	2	152	1	0	0	0	0	1	0	0	0	14956	1291	45	1	5267	1	SON	21	34926794	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		34926794	13203101	372	25946										
POTEH	23784	genome.wustl.edu	37	chr22	16287509	16287509	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctgagtgtcttcatagcaGagtcgtcgtggtctccagaa	11	10	3	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:16287509G>C	ENST00000343518.6	-	1	428	c.377C>G	c.(376-378)tCt>tGt	p.S126C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	126										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAGTCGTCGTG	0.612																																																	0													61	71	68					22																	16287509		1932	3700	5632	SO:0001583	missense	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.377C>G	22.37:g.16287509G>C	ENSP00000340610:p.Ser126Cys		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S126C	ENST00000343518.6	37	c.377	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	8.396	0.840806	0.16891	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.27557	1.66	.	.	.	.	.	.	.	.	T	0.45074	0.1324	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.22208	-1.0223	7	0.87932	D	0	.	.	.	.	.	126	Q6S545	POTEH_HUMAN	C	89;126;126	ENSP00000340610:S126C	ENSP00000340610:S126C	S	-	2	0	POTEH	14667509	0.016000	0.18221	0.004000	0.12327	0.004000	0.04260	0.315000	0.19451	0.269000	0.21961	0.274000	0.19336	TCT	POTEH	-	NULL		0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	G	NM_001136213		16287509	-1	no_errors	ENST00000343518	ensembl	human	known	70_37	missense	SNP	0.005	C	C	16287509	G	C	16287509	3	2	152	1	0	0	0	0	1	0	0	0	12291	942	33	1	1300	1	POTEH	22	16287509	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		16287509	35017057	373	25947										
BCL2L13	23786	genome.wustl.edu	37	chr22	18138488	18138488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agccaattcaatggcgtcctCttctactgtgcctctgggat	9	12	4	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:18138488C>G	ENST00000317582.5	+	2	358	c.11C>G	c.(10-12)tCt>tGt	p.S4C	BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Missense_Mutation_p.S4C|BCL2L13_ENST00000493680.1_Missense_Mutation_p.S4C|BCL2L13_ENST00000538149.1_5'UTR|BCL2L13_ENST00000355028.3_Missense_Mutation_p.S4C|BCL2L13_ENST00000418951.2_Missense_Mutation_p.S4C|BCL2L13_ENST00000337612.5_5'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	4					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ATGGCGTCCTCTTCTACTGTG	0.393																																																	0													132	121	125					22																	18138488		2203	4300	6503	SO:0001583	missense	23786			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.11C>G	22.37:g.18138488C>G	ENSP00000318883:p.Ser4Cys		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like	p.S4C	ENST00000317582.5	37	c.11	CCDS13746.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995778	0.74703	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028;ENST00000418951	T;T;T;T;T	0.32753	1.69;1.82;1.69;1.44;1.47	5.68	5.68	0.88126	.	0.114953	0.64402	D	0.000011	T	0.44393	0.1291	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.997	D;P;D	0.69479	0.964;0.769;0.912	T	0.37619	-0.9698	10	0.87932	D	0	-10.7545	16.7006	0.85349	0.0:1.0:0.0:0.0	.	4;4;4	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	C	4	ENSP00000382682:S4C;ENSP00000318883:S4C;ENSP00000434764:S4C;ENSP00000347133:S4C;ENSP00000410019:S4C	ENSP00000318883:S4C	S	+	2	0	BCL2L13	16518488	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	3.245000	0.51407	2.664000	0.90586	0.591000	0.81541	TCT	BCL2L13	-	NULL		0.393	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L13	HGNC	protein_coding	OTTHUMT00000316184.1	C	NM_015367		18138488	1	no_errors	ENST00000317582	ensembl	human	known	70_37	missense	SNP	0.995	G	G	18138488	C	G	18138488	3	3	152	1	0	0	0	0	1	0	0	0	1372	913	32	1	13	1	BCL2L13	22	18138488	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	1850979	18138488	33166078	374	25948										
ZDHHC8	29801	genome.wustl.edu	37	chr22	20127384	20127384	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tctacgtgctgaaccacgctGaggggctgggagccgcgcac	15	13	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:20127384G>A	ENST00000334554.7	+	4	667	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.E176K|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	176					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GAACCACGCTGAGGGGCTGGG	0.602																																																	0													64	55	58					22																	20127384		2203	4300	6503	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.526G>A	22.37:g.20127384G>A	ENSP00000334490:p.Glu176Lys		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.E176K	ENST00000334554.7	37	c.526	CCDS13776.1	22	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350480	0.61183	.	.	ENSG00000099904	ENST00000436518;ENST00000334554;ENST00000405930	T;T;T	0.24151	1.87;1.87;1.87	3.59	3.59	0.41128	.	0.154597	0.42821	D	0.000658	T	0.24392	0.0591	L	0.42686	1.345	0.80722	D	1	P;B	0.36789	0.57;0.242	B;B	0.37198	0.219;0.243	T	0.08597	-1.0714	10	0.34782	T	0.22	.	16.101	0.81172	0.0:0.0:1.0:0.0	.	176;176	Q9ULC8-3;Q9ULC8	.;ZDHC8_HUMAN	K	165;176;176	ENSP00000412807:E165K;ENSP00000334490:E176K;ENSP00000384716:E176K	ENSP00000334490:E176K	E	+	1	0	ZDHHC8	18507384	1.000000	0.71417	0.830000	0.32933	0.683000	0.39861	9.296000	0.96104	1.946000	0.56461	0.462000	0.41574	GAG	ZDHHC8	-	NULL		0.602	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1	G	NM_013373		20127384	1	no_errors	ENST00000405930	ensembl	human	known	70_37	missense	SNP	0.997	A	A	20127384	G	A	20127384	3	1	152	1	0	0	0	0	1	0	0	0	17651	1291	45	1	540	1	ZDHHC8	22	20127384	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1988896	20127384	31177182	375	25949										
DGCR6L	85359	genome.wustl.edu	37	chr22	20302222	20302222	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ggtgggacagggctgcctttCtggtcacactgggcagcagg	17	10	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:20302222C>T	ENST00000248879.3	-	5	730	c.639G>A	c.(637-639)caG>caA	p.Q213Q	DGCR6L_ENST00000405465.3_Silent_p.Q175Q	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	213						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					GGCTGCCTTTCTGGTCACACT	0.637																																																	0													33	31	32					22																	20302222		2203	4300	6503	SO:0001819	synonymous_variant	85359			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.639G>A	22.37:g.20302222C>T			A8K1N7|B3KMC0|D3DX29|Q9BW33	Silent	SNP	pfam_DGCR6	p.Q213	ENST00000248879.3	37	c.639	CCDS13778.1	22																																																																																			DGCR6L	-	NULL		0.637	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6L	HGNC	protein_coding	OTTHUMT00000318970.3	C	NM_033257		20302222	-1	no_errors	ENST00000248879	ensembl	human	known	70_37	silent	SNP	0.001	T	T	20302222	C	T	20302222	2	4	152	1	0	0	0	0	0	0	0	1	4473	912	32	1		1	DGCR6L	22	20302222	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	174838	20302222	31002344	376	25950										
SERPIND1	3053	genome.wustl.edu	37	chr22	21141329	21141329	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgcctgctcttcatgggaaGagtggccaaccccagcaggt	12	13	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:21141329G>A	ENST00000215727.5	+	5	1758	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R492K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	492					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R492T(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TTCATGGGAAGAGTGGCCAAC	0.562																																																	2	Substitution - Missense(2)	endometrium(2)											77	66	70					22																	21141329		2203	4300	6503	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1475G>A	22.37:g.21141329G>A	ENSP00000215727:p.Arg492Lys		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.R492K	ENST00000215727.5	37	c.1475	CCDS13783.1	22	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804561	0.70682	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84442	-1.85;-1.85	4.72	2.58	0.30949	Serpin domain (3);	0.101636	0.64402	N	0.000006	D	0.86830	0.6027	L	0.45137	1.4	0.44110	D	0.99688	P;P	0.47677	0.899;0.899	P;P	0.62885	0.908;0.908	T	0.83229	-0.0064	10	0.32370	T	0.25	.	11.2207	0.48853	0.1518:0.0:0.8482:0.0	.	492;492	Q8IVC0;P05546	.;HEP2_HUMAN	K	492	ENSP00000215727:R492K;ENSP00000384050:R492K	ENSP00000215727:R492K	R	+	2	0	SERPIND1	19471329	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.637000	0.67854	0.587000	0.29643	0.655000	0.94253	AGA	SERPIND1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.562	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	HGNC	protein_coding	OTTHUMT00000319961.1	G	NM_000185		21141329	1	no_errors	ENST00000215727	ensembl	human	known	70_37	missense	SNP	0.951	A	A	21141329	G	A	21141329	3	1	152	1	0	0	0	0	1	0	0	0	14140	942	33	1	1489	1	SERPIND1	22	21141329	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	839107	21141329	30163237	377	25951										
THAP7	80764	genome.wustl.edu	37	chr22	21354544	21354544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ctgcagcctgcttcatctgcCtgggcacccaaggggcccag	12	16	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:21354544C>T	ENST00000215742.4	-	4	729	c.555G>A	c.(553-555)caG>caA	p.Q185Q	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Silent_p.Q185Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	185					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTTCATCTGCCTGGGCACCCA	0.672																																																	0													6	7	7					22																	21354544		2147	4198	6345	SO:0001819	synonymous_variant	80764			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.555G>A	22.37:g.21354544C>T			B2RD97|D3DX40	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q185	ENST00000215742.4	37	c.555	CCDS13787.1	22																																																																																			THAP7	-	NULL		0.672	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	C	NM_030573		21354544	-1	no_errors	ENST00000215742	ensembl	human	known	70_37	silent	SNP	0.994	T	T	21354544	C	T	21354544	2	4	152	1	0	0	0	0	0	0	0	1	15879	680	24	4		4	THAP7	22	21354544	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	213215	21354544	29950022	378	25952										
GGT1	2678	genome.wustl.edu	37	chr22	25023584	25023584	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gccaccagcaccatcaacctCtagtaggggctgctgggccg	12	15	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:25023584C>G	ENST00000400382.1	+	12	1961	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	GGT1_ENST00000400383.1_Silent_p.L402L|GGT1_ENST00000404920.1_Silent_p.L58L|GGT1_ENST00000404532.1_Silent_p.L58L|GGT1_ENST00000404223.1_Silent_p.L58L|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000406383.2_Silent_p.L402L|GGT1_ENST00000248923.4_Silent_p.L402L|GGT1_ENST00000403838.1_Silent_p.L58L|GGT1_ENST00000400380.1_Silent_p.L402L|GGT1_ENST00000401885.1_Silent_p.L58L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	402					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCATCAACCTCTAGTAGGGGC	0.647																																																	0													3	3	3					22																	25023584		1793	3615	5408	SO:0001819	synonymous_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1206C>G	22.37:g.25023584C>G			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.L402	ENST00000400382.1	37	c.1206	CCDS42992.1	22																																																																																			GGT1	-	pfam_GGT_peptidase,tigrfam_GGT_peptidase		0.647	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	C	NM_013430		25023584	1	no_errors	ENST00000248923	ensembl	human	known	70_37	silent	SNP	0.998	G	G	25023584	C	G	25023584	2	3	152	1	0	0	0	0	0	0	0	1	6380	900	32	1		1	GGT1	22	25023584	Silent	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	3669040	25023584	26280982	379	25953										
ZNRF3	84133	genome.wustl.edu	37	chr22	29446272	29446272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cctgacctcaggaggacctgGaaggggggccacgagttgcc	16	12	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:29446272G>A	ENST00000544604.2	+	8	2278	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*	ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.W601*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.W601*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.W601*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	701					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGAGGACCTGGAAGGGGGGCC	0.692																																																	0													15	17	16					22																	29446272		1925	4103	6028	SO:0001587	stop_gained	84133			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2103G>A	22.37:g.29446272G>A	ENSP00000443824:p.Trp701*		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.W701*	ENST00000544604.2	37	c.2103	CCDS56225.1	22	.	.	.	.	.	.	.	.	.	.	G	38	6.685869	0.97764	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.01	5.01	0.66863	.	0.455403	0.23698	N	0.045445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-10.2538	10.8865	0.46971	0.0861:0.0:0.9139:0.0	.	.	.	.	X	701;601;408;601;601	.	ENSP00000328614:W601X	W	+	3	0	ZNRF3	27776272	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.106000	0.57804	2.317000	0.78254	0.655000	0.94253	TGG	ZNRF3	-	NULL		0.692	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	G	XM_290972		29446272	1	no_errors	ENST00000544604	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	29446272	G	A	29446272	4	1	152	1	0	0	0	0	0	1	0	0	18243	1183	41	1	1829	1	ZNRF3	22	29446272	Nonsense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	4422688	29446272	21858294	380	25954										
SEC14L2	23541	genome.wustl.edu	37	chr22	30793105	30793105	+	5'UTR	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	catccccgcggttgagccacGatgagcggcagagtcggcga	15	13	0	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:30793105G>T	ENST00000312932.9	+	0	260				SEC14L2_ENST00000402592.3_5'UTR|SEC14L2_ENST00000403484.1_5'UTR|SEC14L2_ENST00000405717.3_5'UTR|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GTTGAGCCACGATGAGCGGCA	0.701																																																	0													13	10	11					22																	30793105		2066	4043	6109	SO:0001623	5_prime_UTR_variant	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.-1G>T	22.37:g.30793105G>T			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	RNA	SNP	-	NULL	ENST00000312932.9	37	NULL	CCDS13876.1	22																																																																																			SEC14L2	-	-		0.701	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	G	NM_012429		30793105	1	no_errors	ENST00000459728	ensembl	human	known	70_37	rna	SNP	0.986	T	T	30793105	G	T	30793105	1	4	152	0	1	0	0	0	0	0	0	0	14012	1073	37	3		3	SEC14L2	22	30793105	5'UTR	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1346833	30793105	20511461	381	25955										
LIMK2	3985	genome.wustl.edu	37	chr22	31674413	31674413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tgcagtacggcctgacccggGactcacctccctagccctgg	11	17	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:31674413G>A	ENST00000331728.4	+	16	2017	c.1903G>A	c.(1903-1905)Gac>Aac	p.D635N	LIMK2_ENST00000333611.4_Missense_Mutation_p.D614N|LIMK2_ENST00000444929.2_Missense_Mutation_p.D389N|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	635					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGACCCGGGACTCACCTCC	0.672																																																	0													80	87	85					22																	31674413		2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1903G>A	22.37:g.31674413G>A	ENSP00000332687:p.Asp635Asn		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D635N	ENST00000331728.4	37	c.1903	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	.	18.22	3.575780	0.65878	.	.	ENSG00000182541	ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611	T;T;T	0.74209	-0.82;-0.72;-0.78	5.37	4.35	0.52113	.	.	.	.	.	T	0.59891	0.2227	N	0.17474	0.49	0.44762	D	0.997767	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.56208	-0.8017	9	0.49607	T	0.09	.	13.2054	0.59793	0.0769:0.0:0.9231:0.0	.	667;389;635	F5GY29;E7EUC1;P53671	.;.;LIMK2_HUMAN	N	389;635;667;614	ENSP00000409522:D389N;ENSP00000332687:D635N;ENSP00000330470:D614N	ENSP00000332687:D635N	D	+	1	0	LIMK2	30004413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.110000	0.71535	1.255000	0.44051	0.563000	0.77884	GAC	LIMK2	-	NULL		0.672	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	G	NM_016733		31674413	1	no_errors	ENST00000331728	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31674413	G	A	31674413	3	1	152	1	0	0	0	0	1	0	0	0	8822	1174	41	1	2378	1	LIMK2	22	31674413	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	881308	31674413	19630153	382	25956										
EIF3D	8664	genome.wustl.edu	37	chr22	36907574	36907574	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttcttcctcttcttcctcctCctcttcctcctcatcttcat	0	19	7	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:36907574C>G	ENST00000216190.8	-	14	1979	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	EIF3D_ENST00000478547.1_5'UTR|EIF3D_ENST00000405442.1_Missense_Mutation_p.E537Q|EIF3D_ENST00000541106.1_Missense_Mutation_p.E488Q	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						tcttcctcctcctcttcctcc	0.532											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													72	60	64					22																	36907574		2203	4300	6503	SO:0001583	missense	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1609G>C	22.37:g.36907574C>G	ENSP00000216190:p.Glu537Gln	866		Missense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.E537Q	ENST00000216190.8	37	c.1609	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808184	0.70797	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442	.	.	.	5.83	5.83	0.93111	.	0.121347	0.64402	D	0.000010	T	0.42877	0.1222	N	0.12569	0.235	0.58432	D	0.999998	B;B	0.26635	0.155;0.155	B;B	0.25884	0.064;0.064	T	0.25328	-1.0135	9	0.23302	T	0.38	-15.4331	19.7245	0.96157	0.0:1.0:0.0:0.0	.	488;537	B4DVY1;O15371	.;EIF3D_HUMAN	Q	537;522;488;537	.	ENSP00000216190:E537Q	E	-	1	0	EIF3D	35237520	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.093000	0.76937	2.757000	0.94681	0.591000	0.81541	GAG	EIF3D	-	pirsf_EIF-3_zeta		0.532	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	C			36907574	-1	no_errors	ENST00000216190	ensembl	human	known	70_37	missense	SNP	0.368	G	G	36907574	C	G	36907574	3	3	152	1	0	0	0	0	1	0	0	0	5026	864	30	1	45	1	EIF3D	22	36907574	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5233161	36907574	14396992	383	25957										
CSF2RB	1439	genome.wustl.edu	37	chr22	37333842	37333842	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ccgagccagggggctgcaggGagtccctccctggagtccgg	17	14	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:37333842G>A	ENST00000403662.3	+	14	2214	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	CSF2RB_ENST00000406230.1_Silent_p.G670G|CSF2RB_ENST00000536485.1_Silent_p.G611G|CSF2RB_ENST00000262825.5_Silent_p.G670G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	664					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGGCTGCAGGGAGTCCCTCCC	0.677																																																	0													15	18	17					22																	37333842		2201	4294	6495	SO:0001819	synonymous_variant	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1992G>A	22.37:g.37333842G>A			Q5JZI1|Q6ICE0	Silent	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.G670	ENST00000403662.3	37	c.2010	CCDS13936.1	22																																																																																			CSF2RB	-	pirsf_IL3_rcpt_beta		0.677	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	G	NM_000395		37333842	1	no_errors	ENST00000262825	ensembl	human	known	70_37	silent	SNP	0.001	A	A	37333842	G	A	37333842	2	1	152	1	0	0	0	0	0	0	0	1	3940	1161	41	1		1	CSF2RB	22	37333842	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	426268	37333842	13970724	384	25958										
SUN2	25777	genome.wustl.edu	37	chr22	39144780	39144780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	agaggaacgtcttcagggacGagaagcgcctggaccacgcg	15	11	2	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:39144780G>A	ENST00000405510.1	-	8	981	c.623C>T	c.(622-624)tCg>tTg	p.S208L	RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.S208L|SUN2_ENST00000405018.1_Missense_Mutation_p.S229L|SUN2_ENST00000406622.1_Missense_Mutation_p.S208L|SUN2_ENST00000411587.2_Missense_Mutation_p.S197L	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	208					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTTCAGGGACGAGAAGCGCCT	0.647																																																	0													100	88	92					22																	39144780		2203	4300	6503	SO:0001583	missense	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.623C>T	22.37:g.39144780G>A	ENSP00000385740:p.Ser208Leu		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S208L	ENST00000405510.1	37	c.623	CCDS13978.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.077445|3.077445	0.55753|0.55753	.|.	.|.	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.33216	.|2.66;2.66;2.64;2.66;2.67;1.42	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.551536	.|0.15814	.|N	.|0.243310	T|T	0.21145|0.21145	0.0509|0.0509	L|L	0.27053|0.27053	0.805|0.805	0.35570|0.35570	D|D	0.805403|0.805403	.|D;D;D;P;P	.|0.54772	.|0.968;0.968;0.968;0.954;0.913	.|B;B;B;B;B	.|0.35770	.|0.137;0.178;0.178;0.21;0.11	T|T	0.35276|0.35276	-0.9795|-0.9795	5|10	.|0.51188	.|T	.|0.08	-9.0249|-9.0249	15.8309|15.8309	0.78749|0.78749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|197;243;208;229;208	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	C|L	65|208;208;229;208;197;162	.|ENSP00000385740:S208L;ENSP00000216064:S208L;ENSP00000385616:S229L;ENSP00000383992:S208L;ENSP00000395601:S197L;ENSP00000406941:S162L	.|ENSP00000216064:S208L	R|S	-|-	1|2	0|0	SUN2|SUN2	37474726|37474726	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.577000|0.577000	0.36160|0.36160	5.330000|5.330000	0.65899|0.65899	2.327000|2.327000	0.79052|0.79052	0.561000|0.561000	0.74099|0.74099	CGT|TCG	SUN2	-	NULL		0.647	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	G	XM_039332		39144780	-1	no_errors	ENST00000216064	ensembl	human	known	70_37	missense	SNP	0.982	A	A	39144780	G	A	39144780	3	1	152	1	0	0	0	0	1	0	0	0	15422	1059	37	1	1578	1	SUN2	22	39144780	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	1810938	39144780	12159786	385	25959										
DNAL4	10126	genome.wustl.edu	37	chr22	39175601	39175601	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	ttcttgtccattgtctctttGatcatcttggcggcgctctg	9	11	5	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:39175601G>C	ENST00000216068.4	-	4	415	c.171C>G	c.(169-171)atC>atG	p.I57M	DNAL4_ENST00000486019.1_5'UTR|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	57					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					TTGTCTCTTTGATCATCTTGG	0.587																																																	0													92	72	79					22																	39175601		2203	4299	6502	SO:0001583	missense	10126			AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"Axonemal dyneins"	2955	protein-coding gene	gene with protein product		610565	"dynein, axonemal, light polypeptide 4", "dynein, axonemal, light 4"			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.171C>G	22.37:g.39175601G>C	ENSP00000216068:p.Ile57Met		Q6FGB2|Q6FGD0	Missense_Mutation	SNP	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2	p.I57M	ENST00000216068.4	37	c.171	CCDS13979.1	22	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755587	0.49362	.	.	ENSG00000100246	ENST00000216068	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.88891	0.3346	9	0.87932	D	0	.	13.7681	0.63008	0.0:0.0:0.8463:0.1536	.	57	O96015	DNAL4_HUMAN	M	57	.	ENSP00000216068:I57M	I	-	3	3	DNAL4	37505547	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	4.570000	0.60872	2.435000	0.82474	0.655000	0.94253	ATC	DNAL4	-	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2		0.587	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAL4	HGNC	protein_coding	OTTHUMT00000321032.1	G	NM_005740		39175601	-1	no_errors	ENST00000216068	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39175601	G	C	39175601	3	2	152	1	0	0	0	0	1	0	0	0	4668	1280	45	1	150	1	DNAL4	22	39175601	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	30821	39175601	12128965	386	25960										
TCF20	6942	genome.wustl.edu	37	chr22	42605914	42605914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagccccctggacagggaccGagggcctccaccacagtctt	12	16	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chr22:42605914G>A	ENST00000359486.3	-	1	5534	c.5398C>T	c.(5398-5400)Cgg>Tgg	p.R1800W	TCF20_ENST00000404876.1_Missense_Mutation_p.R101W|TCF20_ENST00000335626.4_Missense_Mutation_p.R1800W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GACAGGGACCGAGGGCCTCCA	0.612																																																	0													61	68	66					22																	42605914		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5398C>T	22.37:g.42605914G>A	ENSP00000352463:p.Arg1800Trp		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.R1800W	ENST00000359486.3	37	c.5398	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722746	0.68959	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.72394	-0.26;-0.26;-0.65	6.07	6.07	0.98685	.	0.091019	0.48286	D	0.000199	T	0.81917	0.4924	L	0.54323	1.7	0.47374	D	0.999403	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.82123	-0.0613	10	0.87932	D	0	-24.8661	18.8245	0.92111	0.0:0.0:1.0:0.0	.	1800;1800	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	1800;1800;101	ENSP00000352463:R1800W;ENSP00000335561:R1800W;ENSP00000385531:R101W	ENSP00000335561:R1800W	R	-	1	2	TCF20	40935858	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.827000	0.55745	2.884000	0.98904	0.655000	0.94253	CGG	TCF20	-	NULL		0.612	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	G	NM_181492		42605914	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42605914	G	A	42605914	3	1	152	1	0	0	0	0	1	0	0	0	15720	1057	37	1	522	1	TCF20	22	42605914	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3430313	42605914	8698652	387	25961										
ZRSR2	8233	genome.wustl.edu	37	chrX	15818015	15818015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gactctcacagaaggaggaaGaggaggacacttttattgaa	12	6	1	3			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:15818015G>A	ENST00000307771.7	+	3	166	c.142G>A	c.(142-144)Gag>Aag	p.E48K	ZRSR2_ENST00000380308.3_Missense_Mutation_p.E48K|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	48	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GAAGGAGGAAGAGGAGGACAC	0.343			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)			Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0													96	83	87					X																	15818015		2203	4300	6503	SO:0001583	missense	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.142G>A	X.37:g.15818015G>A	ENSP00000303015:p.Glu48Lys		Q14D69	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small	p.E48K	ENST00000307771.7	37	c.142	CCDS14172.1	X	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119528	0.37436	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	D;T	0.84873	-1.91;1.81	4.96	4.96	0.65561	.	0.098930	0.64402	D	0.000002	D	0.91630	0.7355	M	0.80982	2.52	0.42276	D	0.992071	D	0.63880	0.993	D	0.70935	0.971	D	0.92534	0.6036	10	0.62326	D	0.03	.	12.9043	0.58143	0.0:0.0:1.0:0.0	.	48	Q15696	U2AFM_HUMAN	K	48	ENSP00000303015:E48K;ENSP00000369664:E48K	ENSP00000303015:E48K	E	+	1	0	ZRSR2	15727936	0.997000	0.39634	0.929000	0.37066	0.776000	0.43924	3.067000	0.50010	2.192000	0.70111	0.600000	0.82982	GAG	ZRSR2	-	NULL		0.343	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRSR2	HGNC	protein_coding	OTTHUMT00000055889.1	G	NM_005089		15818015	1	no_errors	ENST00000307771	ensembl	human	known	70_37	missense	SNP	0.975	A	A	15818015	G	A	15818015	3	1	152	1	0	0	0	0	1	0	0	0	18255	943	33	1	152	1	ZRSR2	23	15818015	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09		15818015	139452545	388	25962										
ZFX	7543	genome.wustl.edu	37	chrX	24197540	24197540	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tcctgagcaagtgctggactCagatgtaactgaagaagttt	11	7	1	4			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:24197540C>T	ENST00000379177.1	+	6	726	c.299C>T	c.(298-300)tCa>tTa	p.S100L	ZFX_ENST00000338565.3_Missense_Mutation_p.S100L|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.S100L|ZFX_ENST00000540034.1_Missense_Mutation_p.S139L|ZFX_ENST00000379188.3_Missense_Mutation_p.S100L|ZFX_ENST00000459724.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	100					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GTGCTGGACTCAGATGTAACT	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													292	229	250					X																	24197540		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.299C>T	X.37:g.24197540C>T	ENSP00000368475:p.Ser100Leu		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S139L	ENST00000379177.1	37	c.416	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283177	0.40394	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	6.17	6.17	0.99709	Transcriptional activator, Zfx / Zfy domain (1);	0.486739	0.18944	N	0.126846	T	0.37237	0.0996	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.24043	0.001;0.027;0.096;0.004	B;B;B;B	0.28385	0.006;0.023;0.089;0.01	T	0.09684	-1.0663	10	0.36615	T	0.2	-8.8885	15.872	0.79127	0.0:0.8685:0.1315:0.0	.	139;100;100;104	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	L	100;100;100;100;100;139;100	ENSP00000411637:S100L;ENSP00000368486:S100L;ENSP00000368475:S100L;ENSP00000304985:S100L;ENSP00000441382:S139L;ENSP00000343384:S100L	ENSP00000304985:S100L	S	+	2	0	ZFX	24107461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.650000	0.37292	2.618000	0.88619	0.600000	0.82982	TCA	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	C	NM_003410		24197540	1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24197540	C	T	24197540	3	4	152	1	0	0	0	0	1	0	0	0	17691	838	29	1	305	1	ZFX	23	24197540	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	8379525	24197540	131073020	389	25963										
RPGR	6103	genome.wustl.edu	37	chrX	38180282	38180282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	acaggttgagcactatacctGttgacaccagggtgtggttc	12	9	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:38180282G>A	ENST00000339363.3	-	4	475	c.308C>T	c.(307-309)aCa>aTa	p.T103I	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.T103I|RPGR_ENST00000338898.3_Missense_Mutation_p.T103I|RPGR_ENST00000309513.3_Missense_Mutation_p.T103I|RPGR_ENST00000318842.7_Missense_Mutation_p.T103I|RPGR_ENST00000342811.3_Missense_Mutation_p.T103I			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	103					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACTATACCTGTTGACACCAG	0.368																																																	0													102	91	94					X																	38180282		2202	4300	6502	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.308C>T	X.37:g.38180282G>A	ENSP00000343671:p.Thr103Ile		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T103I	ENST00000339363.3	37	c.308		X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041843	0.75732	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.07	6.07	0.98685	.	0.000000	0.85682	U	0.000000	D	0.95114	0.8417	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96541	0.9400	10	0.87932	D	0	.	19.5515	0.95323	0.0:0.0:1.0:0.0	.	103;103	E9PE28;Q92834-2	.;.	I	103	ENSP00000343671:T103I;ENSP00000308783:T103I;ENSP00000340208:T103I;ENSP00000322219:T103I;ENSP00000339531:T103I;ENSP00000367766:T103I	ENSP00000308783:T103I	T	-	2	0	RPGR	38065226	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	9.357000	0.97099	2.573000	0.86826	0.538000	0.68166	ACA	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.368	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38180282	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38180282	G	A	38180282	3	1	152	1	0	0	0	0	1	0	0	0	13578	1377	48	4	3757	4	RPGR	23	38180282	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	13982742	38180282	117090278	390	25964										
CASK	8573	genome.wustl.edu	37	chrX	41524688	41524688	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cacttctggtgccataaaatGaggtgttccaacacgtccta	8	11	1	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:41524688G>A	ENST00000378163.1	-	7	1024	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	CASK_ENST00000378158.1_Missense_Mutation_p.H184Y|CASK_ENST00000421587.2_Missense_Mutation_p.H184Y|CASK_ENST00000378154.1_Missense_Mutation_p.H184Y|CASK_ENST00000361962.4_Missense_Mutation_p.H184Y|CASK_ENST00000442742.2_Missense_Mutation_p.H184Y|CASK_ENST00000318588.9_Missense_Mutation_p.H184Y|CASK_ENST00000378166.4_Missense_Mutation_p.H184Y			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCCATAAAATGAGGTGTTCCA	0.378																																					NSCLC(42;104 1086 3090 27189 35040)												0													76	63	67					X																	41524688		2203	4300	6503	SO:0001583	missense	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.550C>T	X.37:g.41524688G>A	ENSP00000367405:p.His184Tyr		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.H184Y	ENST00000378163.1	37	c.550		X	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595248	0.66219	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.72	5.72	0.89469	.	0.099589	0.45361	D	0.000378	T	0.50222	0.1603	N	0.10809	0.05	0.80722	D	1	P;P;D	0.56968	0.828;0.52;0.978	B;B;B	0.44278	0.261;0.074;0.445	T	0.60831	-0.7185	10	0.72032	D	0.01	.	18.9015	0.92444	0.0:0.0:1.0:0.0	.	184;184;184	O14936-3;O14936-4;O14936-2	.;.;.	Y	184	ENSP00000400526:H184Y;ENSP00000322727:H184Y;ENSP00000354641:H184Y;ENSP00000367405:H184Y;ENSP00000367400:H184Y;ENSP00000367408:H184Y;ENSP00000398007:H184Y;ENSP00000367396:H184Y	ENSP00000322727:H184Y	H	-	1	0	CASK	41409632	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.476000	0.97823	2.410000	0.81850	0.523000	0.50628	CAT	CASK	-	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		0.378	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	G	NM_003688		41524688	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41524688	G	A	41524688	3	1	152	1	0	0	0	0	1	0	0	0	2670	1290	45	1	2314	1	CASK	23	41524688	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	3344406	41524688	113745872	391	25965										
IQSEC2	23096	genome.wustl.edu	37	chrX	53272579	53272579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cacatggtcatcgttggtccGcagttcacgcccctggatgc	11	14	2	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:53272579G>A	ENST00000375368.5	-	8	2994	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R942W|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R737W			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	932					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCGTTGGTCCGCAGTTCACGC	0.592																																																	0													80	50	60					X																	53272579		2183	4230	6413	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2794C>T	X.37:g.53272579G>A	ENSP00000364517:p.Arg932Trp		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.R942W	ENST00000375368.5	37	c.2824		X	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816687	0.70912	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.13420	2.59;2.59;2.62	5.28	-0.377	0.12501	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.59436	1.845	0.49299	D	0.999774	D;D	0.65815	0.995;0.992	P;P	0.54924	0.764;0.707	T	0.08006	-1.0743	10	0.87932	D	0	.	15.4534	0.75294	0.0:0.0:0.3236:0.6764	.	942;737	Q5JU85-2;Q5JU85-3	.;.	W	942;932;737	ENSP00000379712:R942W;ENSP00000364517:R932W;ENSP00000364514:R737W	ENSP00000364514:R737W	R	-	1	2	IQSEC2	53289304	0.000000	0.05858	0.989000	0.46669	0.994000	0.84299	-0.019000	0.12546	-0.102000	0.12197	-0.237000	0.12165	CGG	IQSEC2	-	superfamily_Sec7		0.592	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		G	XM_291345		53272579	-1	no_errors	ENST00000396435	ensembl	human	known	70_37	missense	SNP	0.774	A	A	53272579	G	A	53272579	3	1	152	1	0	0	0	0	1	0	0	0	7838	1086	38	2	1670	2	IQSEC2	23	53272579	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	11747891	53272579	101997981	392	25966										
HUWE1	10075	genome.wustl.edu	37	chrX	53579732	53579732	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	actgccagctgctgaagtgtCacccacagcctcctctaagg	9	15	2	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:53579732C>T	ENST00000342160.3	-	61	9074	c.8617G>A	c.(8617-8619)Gac>Aac	p.D2873N	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2873N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2873					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTGAAGTGTCACCCACAGCC	0.587																																																	0													47	42	44					X																	53579732		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8617G>A	X.37:g.53579732C>T	ENSP00000340648:p.Asp2873Asn		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.D2873N	ENST00000342160.3	37	c.8617	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770881	0.31320	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37058	1.22;1.22	5.88	5.88	0.94601	.	0.430064	0.22128	N	0.064222	T	0.23886	0.0578	N	0.08118	0	0.33931	D	0.642082	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.18241	-1.0343	10	0.40728	T	0.16	.	17.8502	0.88744	0.0:1.0:0.0:0.0	.	2873;2873	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	N	2873	ENSP00000340648:D2873N;ENSP00000262854:D2873N	ENSP00000262854:D2873N	D	-	1	0	HUWE1	53596457	.	.	0.998000	0.56505	0.598000	0.36846	.	.	2.489000	0.83994	0.600000	0.82982	GAC	HUWE1	-	NULL		0.587	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53579732	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53579732	C	T	53579732	3	4	152	1	0	0	0	0	1	0	0	0	7481	826	29	1	4599	1	HUWE1	23	53579732	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	307153	53579732	101690828	393	25967										
ARHGEF9	23229	genome.wustl.edu	37	chrX	63005020	63005020	+	De_novo_Start_OutOfFrame	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	cccgatccgccccttatccaCtgcatggtgcttgcgaagtc	9	16	0	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:63005020C>T	ENST00000374878.1	-	0	393				ARHGEF9_ENST00000437457.2_Silent_p.Q2Q|MIR1468_ENST00000410600.1_RNA			O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9						apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCCTTATCCACTGCATGGTGC	0.622																																																	0																																												23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000374878.1:c.-22G>A	X.37:g.63005020C>T			A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q2	ENST00000374878.1	37	c.6		X																																																																																			ARHGEF9	-	NULL		0.622	ARHGEF9-002	KNOWN	basic	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056938.1	C			63005020	-1	no_errors	ENST00000437457	ensembl	human	known	70_37	silent	SNP	1.000	T	T	63005020	C	T	63005020	1	4	152	1	0	1	0	0	0	0	0	0	912	564	20	4		4	ARHGEF9	23	63005020	De_novo_Start_OutOfFrame	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	9425288	63005020	92265540	394	25968										
HEPH	9843	genome.wustl.edu	37	chrX	65486316	65486316	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gacattgaagaaggcaatgtGaagatgctgggcatgcagat	14	5	0	5			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:65486316G>A	ENST00000343002.2	+	20	3943	c.3279G>A	c.(3277-3279)gtG>gtA	p.V1093V	HEPH_ENST00000374727.3_Silent_p.V1096V|HEPH_ENST00000419594.1_Silent_p.V904V|HEPH_ENST00000441993.2_Silent_p.V1095V|HEPH_ENST00000336279.5_Silent_p.V826V|HEPH_ENST00000519389.1_Silent_p.V1147V			Q9BQS7	HEPH_HUMAN	hephaestin	1093					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.V1093V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGGCAATGTGAAGATGCTGG	0.463																																																	1	Substitution - coding silent(1)	urinary_tract(1)											237	165	189					X																	65486316		2203	4300	6503	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3279G>A	X.37:g.65486316G>A			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V1147	ENST00000343002.2	37	c.3441		X																																																																																			HEPH	-	NULL		0.463	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	G	NM_138737		65486316	1	no_errors	ENST00000519389	ensembl	human	known	70_37	silent	SNP	0.107	A	A	65486316	G	A	65486316	2	1	152	1	0	0	0	0	0	0	0	1	7074	1277	45	1		1	HEPH	23	65486316	Silent	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	2481296	65486316	89784244	395	25969										
MED12	9968	genome.wustl.edu	37	chrX	70341568	70341568	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	tacccaccacccctgctcctCagcccccaactagcagcaca	4	22	1	0			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:70341568C>T	ENST00000374080.3	+	7	1035	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	MED12_ENST00000333646.6_Nonsense_Mutation_p.Q335*|MED12_ENST00000374102.1_Nonsense_Mutation_p.Q335*			Q93074	MED12_HUMAN	mediator complex subunit 12	335					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCCTGCTCCTCAGCCCCCAAC	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													92	98	96					X																	70341568		2134	4222	6356	SO:0001587	stop_gained	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1003C>T	X.37:g.70341568C>T	ENSP00000363193:p.Gln335*		O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q335*	ENST00000374080.3	37	c.1003	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	38	6.997639	0.97990	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-15.7917	18.7005	0.91618	0.0:1.0:0.0:0.0	.	.	.	.	X	335;335;335;335;303	.	ENSP00000333125:Q335X	Q	+	1	0	MED12	70258293	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.399000	0.66314	2.615000	0.88500	0.597000	0.82753	CAG	MED12	-	pfam_Mediator_Med12_LCEWAV		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70341568	1	no_errors	ENST00000333646	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70341568	C	T	70341568	4	4	152	1	0	0	0	0	0	1	0	0	9451	827	29	1	1029	1	MED12	23	70341568	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	4855252	70341568	84928992	396	25970										
ZCCHC12	170261	genome.wustl.edu	37	chrX	117959558	117959558	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcagatttcttgcgagccatGaaattggtgtttggggagtc	14	6	1	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:117959558G>A	ENST00000310164.2	+	4	858	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	117					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tgcgagccatgaaattggtgt	0.512																																																	0													174	170	171					X																	117959558		2203	4300	6503	SO:0001583	missense	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.351G>A	X.37:g.117959558G>A	ENSP00000308921:p.Met117Ile		B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	superfamily_Znf_CCHC	p.M117I	ENST00000310164.2	37	c.351	CCDS14574.1	X	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069959	0.55539	.	.	ENSG00000174460	ENST00000310164	T	0.09073	3.02	3.09	3.09	0.35607	.	0.000000	0.44097	D	0.000493	T	0.25158	0.0611	M	0.80028	2.48	0.28950	N	0.890467	P	0.52577	0.954	D	0.66351	0.943	T	0.01587	-1.1318	10	0.72032	D	0.01	-27.0226	8.7855	0.34818	0.0:0.0:1.0:0.0	.	117	Q6PEW1	ZCH12_HUMAN	I	117	ENSP00000308921:M117I	ENSP00000308921:M117I	M	+	3	0	ZCCHC12	117843586	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	3.765000	0.55272	1.801000	0.52704	0.594000	0.82650	ATG	ZCCHC12	-	NULL		0.512	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1	G	NM_173798		117959558	1	no_errors	ENST00000310164	ensembl	human	known	70_37	missense	SNP	0.990	A	A	117959558	G	A	117959558	3	1	152	1	0	0	0	0	1	0	0	0	17611	1290	45	1	353	1	ZCCHC12	23	117959558	Missense_Mutation	SNP	G	TCGA-IR-A3LI-01A-11D-A20U-09	47617990	117959558	37311002	397	25971										
ODZ1	10178	genome.wustl.edu	37	chrX	123615768	123615768	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gtctgatagatagagtgattCagacacagggtccatagcca	11	8	2	5			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:123615768C>T	ENST00000371130.3	-	21	3805	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.E1255K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1248					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAGAGTGATTCAGACACAGGG	0.418																																																	0													128	112	117					X																	123615768		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3742G>A	X.37:g.123615768C>T	ENSP00000360171:p.Glu1248Lys		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.E1255K	ENST00000371130.3	37	c.3763	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.318289	0.95682	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90197	-2.63;-2.63	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	L	0.34521	1.04	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.972	D;P;P	0.70227	0.968;0.787;0.632	D	0.93834	0.7130	10	0.87932	D	0	.	17.774	0.88502	0.0:1.0:0.0:0.0	.	1254;1255;1248	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1248;1255	ENSP00000360171:E1248K;ENSP00000403954:E1255K	ENSP00000360171:E1248K	E	-	1	0	ODZ1	123443449	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.087000	0.71362	2.128000	0.65567	0.600000	0.82982	GAA	TENM1	-	NULL		0.418	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123615768	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123615768	C	T	123615768	3	4	152	1	0	0	0	0	1	0	0	0	10858	835	29	1	4479	1	ODZ1	23	123615768	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	5656210	123615768	31654792	398	25972										
MAGEA4	4103	genome.wustl.edu	37	chrX	151093052	151093052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gcattgcctacccatccctgCgtgaagcagctttgttagag	10	12	0	2			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:151093052C>T	ENST00000360243.2	+	3	1183	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	MAGEA4_ENST00000370337.4_Missense_Mutation_p.R306C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R306C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R306C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R306C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R306C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R306C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	306	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATCCCTGCGTGAAGCAGC	0.582																																																	0													96	92	93					X																	151093052		2203	4300	6503	SO:0001583	missense	4103				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.916C>T	X.37:g.151093052C>T	ENSP00000353379:p.Arg306Cys		Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R306C	ENST00000360243.2	37	c.916	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730633	0.30684	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.01548	4.78;4.78;4.78;4.78;4.78;4.78;4.78	2.49	1.34	0.21922	.	0.561963	0.19945	N	0.102555	T	0.01061	0.0035	N	0.12182	0.205	0.09310	N	1	D	0.63880	0.993	B	0.42522	0.39	T	0.53251	-0.8465	9	.	.	.	.	3.4434	0.07472	0.0:0.2215:0.0:0.7785	.	306	P43358	MAGA4_HUMAN	C	306	ENSP00000276344:R306C;ENSP00000377498:R306C;ENSP00000359362:R306C;ENSP00000377497:R306C;ENSP00000359365:R306C;ENSP00000359360:R306C;ENSP00000353379:R306C	.	R	+	1	0	MAGEA4	150843708	0.044000	0.20184	0.000000	0.03702	0.007000	0.05969	0.734000	0.26101	0.286000	0.22352	0.292000	0.19580	CGT	MAGEA4	-	pfscan_MAGE		0.582	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	C	NM_002362		151093052	1	no_errors	ENST00000276344	ensembl	human	known	70_37	missense	SNP	0.000	T	T	151093052	C	T	151093052	3	4	152	1	0	0	0	0	1	0	0	0	9191	768	27	2	918	2	MAGEA4	23	151093052	Missense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	27477284	151093052	4177508	399	25973										
MPP1	4354	genome.wustl.edu	37	chrX	154020470	154020470	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.5475	219	4.42591629601791e-85	4.20105621374073	5.03930455457315	3.93105862081344	6.6992432299008e-17	6.49826593300378e-15	167	gagtcgcactttccgcacctCctgtcccttgacctgggcag	10	16	0	1			TCGA-IR-A3LI-01A-11D-A20U-09	TCGA-IR-A3LI-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f741066-3dc3-42b9-8287-28b5e5aade9a	5c21b027-1850-4ea4-92e7-8a7e863b86b8	g.chrX:154020470C>A	ENST00000369534.3	-	2	340	c.193G>T	c.(193-195)Gag>Tag	p.E65*	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000413259.3_Nonsense_Mutation_p.E35*|MPP1_ENST00000393531.1_Nonsense_Mutation_p.E65*	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	65					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCGCACCTCCTGTCCCTTG	0.562																																																	0													112	93	100					X																	154020470		2203	4300	6503	SO:0001587	stop_gained	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.193G>T	X.37:g.154020470C>A	ENSP00000358547:p.Glu65*		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E65*	ENST00000369534.3	37	c.193	CCDS14762.1	X	.	.	.	.	.	.	.	.	.	.	C	19.68	3.871988	0.72180	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	.	.	.	5.3	4.42	0.53409	.	0.207328	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7251	0.62754	0.0:0.8483:0.1517:0.0	.	.	.	.	X	65;35;65;19;65	.	ENSP00000358544:E65X	E	-	1	0	MPP1	153673664	0.996000	0.38824	0.842000	0.33263	0.259000	0.26198	3.325000	0.52030	0.988000	0.38734	-0.229000	0.12294	GAG	MPP1	-	superfamily_PDZ		0.562	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP1	HGNC	protein_coding	OTTHUMT00000061191.3	C	NM_002436		154020470	-1	no_errors	ENST00000369534	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	154020470	C	A	154020470	4	1	152	1	0	0	0	0	0	1	0	0	9756	864	30	3	1251	3	MPP1	23	154020470	Nonsense_Mutation	SNP	C	TCGA-IR-A3LI-01A-11D-A20U-09	2927418	154020470	1250090	400	25974										
ATAD3C	219293	genome.wustl.edu	37	chr1	1403903	1403903	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcccgaggacgagcaaccctCatcctgagtccatggggaga	13	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:1403903C>T	ENST00000378785.2	+	12	2224	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	410							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCAACCCTCATCCTGAGTC	0.642																																																	0													20	24	23					1																	1403903		2200	4294	6494	SO:0001583	missense	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1229C>T	1.37:g.1403903C>T	ENSP00000368062:p.Ser410Leu		Q8N1Z5	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.S410L	ENST00000378785.2	37	c.1229	CCDS44039.1	1	.	.	.	.	.	.	.	.	.	.	.	3.683	-0.065161	0.07273	.	.	ENSG00000215915	ENST00000378785	D	0.94092	-3.35	1.1	-2.19	0.07015	.	.	.	.	.	T	0.76919	0.4055	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64715	-0.6342	9	0.26408	T	0.33	.	2.9149	0.05749	0.3758:0.2581:0.3661:0.0	.	410	Q5T2N8	ATD3C_HUMAN	L	410	ENSP00000368062:S410L	ENSP00000368062:S410L	S	+	2	0	ATAD3C	1393766	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.006000	0.13152	-1.164000	0.02790	-1.210000	0.01631	TCA	ATAD3C	-	NULL		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	HGNC	protein_coding	OTTHUMT00000001279.3	C	NM_001039211		1403903	1	no_errors	ENST00000378785	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1403903	C	T	1403903	3	4	153	1	0	0	0	0	1	0	0	0	1076	838	29	1	1275	1	ATAD3C	1	1403903	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		1403903	247846718	1	25975										
PRDM16	63976	genome.wustl.edu	37	chr1	3319477	3319477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctacgagggcctggctgagGagctcaagcccgagggcctt	15	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:3319477G>A	ENST00000270722.5	+	6	848	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PRDM16_ENST00000514189.1_Missense_Mutation_p.E268K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E267K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E268K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E267K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E267K|PRDM16_ENST00000378398.3_Missense_Mutation_p.E268K|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	267					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCTGGCTGAGGAGCTCAAGCC	0.642			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													48	59	55					1																	3319477		2155	4262	6417	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.799G>A	1.37:g.3319477G>A	ENSP00000270722:p.Glu267Lys		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E267K	ENST00000270722.5	37	c.799	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167931	0.38315	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05319	3.49;3.52;3.52;3.54;3.52;3.5;3.53;3.46;3.46	4.32	4.32	0.51571	.	0.355450	0.19000	U	0.125370	T	0.03220	0.0094	N	0.17082	0.46	0.34425	D	0.69791	B;P;B;B	0.35272	0.361;0.493;0.332;0.116	B;B;B;B	0.24394	0.024;0.053;0.047;0.024	T	0.34129	-0.9841	10	0.08381	T	0.77	.	11.4489	0.50140	0.0926:0.0:0.9074:0.0	.	267;267;267;267	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	268;268;267;267;267;268;267;83;83;76	ENSP00000426975:E268K;ENSP00000367651:E268K;ENSP00000407968:E267K;ENSP00000405253:E267K;ENSP00000367643:E267K;ENSP00000421400:E268K;ENSP00000270722:E267K;ENSP00000422504:E83K;ENSP00000425796:E76K	ENSP00000270722:E267K	E	+	1	0	PRDM16	3309337	1.000000	0.71417	0.121000	0.21740	0.905000	0.53344	6.118000	0.71583	1.949000	0.56562	0.561000	0.74099	GAG	PRDM16	-	NULL		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3319477	1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3319477	G	A	3319477	3	1	153	1	0	0	0	0	1	0	0	0	12484	1175	41	1	821	1	PRDM16	1	3319477	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1915574	3319477	245931144	2	25976										
GPR153	387509	genome.wustl.edu	37	chr1	6310673	6310673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtccggggagatgccaccttCcaggctggtctctgtagggt	15	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:6310673C>T	ENST00000377893.2	-	5	1250	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ATGCCACCTTCCAGGCTGGTC	0.602																																																	0													16	13	14					1																	6310673		2174	4256	6430	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.991G>A	1.37:g.6310673C>T	ENSP00000367125:p.Glu331Lys		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.E331K	ENST00000377893.2	37	c.991	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422045	0.62622	.	.	ENSG00000158292	ENST00000377893	T	0.23950	1.88	5.17	5.17	0.71159	.	0.049610	0.85682	D	0.000000	T	0.22282	0.0537	L	0.46157	1.445	0.45837	D	0.998706	P	0.41080	0.737	B	0.33846	0.171	T	0.03240	-1.1057	10	0.29301	T	0.29	-31.4199	16.1476	0.81580	0.0:1.0:0.0:0.0	.	331	Q6NV75	GP153_HUMAN	K	331	ENSP00000367125:E331K	ENSP00000367125:E331K	E	-	1	0	GPR153	6233260	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.091000	0.64505	2.399000	0.81585	0.455000	0.32223	GAA	GPR153	-	prints_GPCR_153		0.602	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	C			6310673	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6310673	C	T	6310673	3	4	153	1	0	0	0	0	1	0	0	0	6678	864	30	1	846	1	GPR153	1	6310673	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2991196	6310673	242939948	3	25977										
RERE	473	genome.wustl.edu	37	chr1	8418579	8418579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctccatggggttggcggctGggtgcagggggtccagctct	19	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:8418579G>A	ENST00000337907.3	-	21	4650	c.4016C>T	c.(4015-4017)cCa>cTa	p.P1339L	RERE_ENST00000377464.1_Missense_Mutation_p.P1071L|RERE_ENST00000400908.2_Missense_Mutation_p.P1339L|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P785L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1339					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGGCGGCTGGGTGCAGGGG	0.692																																																	0													13	19	17					1																	8418579		2191	4292	6483	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4016C>T	1.37:g.8418579G>A	ENSP00000338629:p.Pro1339Leu		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.P1339L	ENST00000337907.3	37	c.4016	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810167	0.90707	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.47528	0.84;0.85;0.84	5.61	5.61	0.85477	.	.	.	.	.	T	0.67795	0.2931	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.63598	-0.6601	9	0.34782	T	0.22	-17.5744	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1339	Q9P2R6	RERE_HUMAN	L	1339;1071;785;1339	ENSP00000338629:P1339L;ENSP00000366684:P1071L;ENSP00000383700:P1339L	ENSP00000338629:P1339L	P	-	2	0	RERE	8341166	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	7.917000	0.87498	2.793000	0.96121	0.655000	0.94253	CCA	RERE	-	pfam_Atrophin-like		0.692	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	G			8418579	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8418579	G	A	8418579	3	1	153	1	0	0	0	0	1	0	0	0	13261	1348	47	4	700	4	RERE	1	8418579	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2107906	8418579	240832042	4	25978										
UBE4B	10277	genome.wustl.edu	37	chr1	10163088	10163088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgtgtctcttggaaggaccGggacagagatgtcatctttc	12	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10163088G>A	ENST00000253251.8	+	5	1357	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	UBE4B_ENST00000377157.3_Missense_Mutation_p.R57Q|UBE4B_ENST00000343090.6_Missense_Mutation_p.R173Q					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGGAAGGACCGGGACAGAGAT	0.483																																																	0													110	104	106					1																	10163088		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.518G>A	1.37:g.10163088G>A	ENSP00000253251:p.Arg173Gln			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R173Q	ENST00000253251.8	37	c.518	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583179	0.65992	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.40756	1.06;1.02;1.02	5.98	5.98	0.97165	.	0.056413	0.64402	D	0.000001	T	0.28001	0.0690	N	0.11064	0.09	0.35187	D	0.773057	B;B	0.21147	0.052;0.048	B;B	0.12837	0.005;0.008	T	0.20009	-1.0288	10	0.17369	T	0.5	-26.1165	20.4581	0.99154	0.0:0.0:1.0:0.0	.	173;173	O95155;O95155-2	UBE4B_HUMAN;.	Q	173;57;173	ENSP00000253251:R173Q;ENSP00000366362:R57Q;ENSP00000343001:R173Q	ENSP00000253251:R173Q	R	+	2	0	UBE4B	10085675	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.835000	0.69368	2.835000	0.97688	0.650000	0.86243	CGG	UBE4B	-	NULL		0.483	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	G	NM_006048		10163088	1	no_errors	ENST00000343090	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10163088	G	A	10163088	3	1	153	1	0	0	0	0	1	0	0	0	16914	1116	39	2	536	2	UBE4B	1	10163088	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1744509	10163088	239087533	5	25979										
KIF1B	23095	genome.wustl.edu	37	chr1	10363419	10363419	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaagaaggcgcttgagtaaaGattccaagtgggtcacaatc	11	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10363419G>C	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.D726H|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.D726H			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGAGTAAAGATTCCAAGTG	0.428																																																	0													74	77	76					1																	10363419		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6115G>C	1.37:g.10363419G>C			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D726H	ENST00000377086.1	37	c.2176		1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027407	0.75390	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74315	-0.83;-0.83	5.95	5.95	0.96441	.	.	.	.	.	D	0.87799	0.6268	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88044	0.2783	8	0.87932	D	0	.	20.4582	0.99154	0.0:0.0:1.0:0.0	.	726	O60333-3	.	H	726	ENSP00000366297:D726H;ENSP00000366287:D726H	ENSP00000366287:D726H	D	+	1	0	KIF1B	10286006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.727000	0.98787	2.836000	0.97738	0.650000	0.86243	GAT	KIF1B	-	NULL		0.428	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10363419	1	no_errors	ENST00000377083	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10363419	G	C	10363419	1	2	153	0	1	0	0	0	0	0	0	0	8304	942	33	1		1	KIF1B	1	10363419	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	200331	10363419	238887202	6	25980										
KIF1B	23095	genome.wustl.edu	37	chr1	10425556	10425556	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactcgttatcccccagcctCagcagtgggaccctcagcac	9	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10425556C>T	ENST00000377086.1	+	43	4804	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	KIF1B_ENST00000263934.6_Silent_p.L1488L|KIF1B_ENST00000377081.1_Silent_p.L1534L			O60333	KIF1B_HUMAN	kinesin family member 1B	1534					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCCCAGCCTCAGCAGTGGGA	0.537																																																	0													94	91	92					1																	10425556		2203	4300	6503	SO:0001819	synonymous_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4602C>T	1.37:g.10425556C>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1488	ENST00000377086.1	37	c.4464		1																																																																																			KIF1B	-	NULL		0.537	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	C			10425556	1	no_errors	ENST00000263934	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10425556	C	T	10425556	2	4	153	1	0	0	0	0	0	0	0	1	8304	813	29	1		1	KIF1B	1	10425556	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	62137	10425556	238825065	7	25981										
KIF1B	23095	genome.wustl.edu	37	chr1	10425657	10425657	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgagagcagtggctatgattCaggagacatcgaaagcctgg	14	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10425657C>T	ENST00000377086.1	+	43	4905	c.4703C>T	c.(4702-4704)tCa>tTa	p.S1568L	KIF1B_ENST00000263934.6_Missense_Mutation_p.S1522L|KIF1B_ENST00000377081.1_Missense_Mutation_p.S1568L			O60333	KIF1B_HUMAN	kinesin family member 1B	1568					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTATGATTCAGGAGACATC	0.532																																																	0													108	100	103					1																	10425657		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4703C>T	1.37:g.10425657C>T	ENSP00000366290:p.Ser1568Leu		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1522L	ENST00000377086.1	37	c.4565		1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191040	0.78902	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72282	-0.57;-0.64;-0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80919	0.4716	L	0.52573	1.65	0.80722	D	1	B;B;B;B;B;D	0.57899	0.396;0.146;0.394;0.227;0.009;0.981	B;B;B;B;B;D	0.69142	0.107;0.057;0.079;0.101;0.007;0.962	T	0.76979	-0.2758	10	0.33141	T	0.24	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	1554;1528;1568;1542;1568;1522	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1568;1522;1568;1568	ENSP00000263934:S1522L;ENSP00000366290:S1568L;ENSP00000366284:S1568L	ENSP00000263934:S1522L	S	+	2	0	KIF1B	10348244	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	7.818000	0.86416	2.701000	0.92244	0.650000	0.86243	TCA	KIF1B	-	NULL		0.532	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	C			10425657	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10425657	C	T	10425657	3	4	153	1	0	0	0	0	1	0	0	0	8304	838	29	1	6212	1	KIF1B	1	10425657	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	101	10425657	238824964	8	25982										
PRAMEF4	400735	genome.wustl.edu	37	chr1	12943014	12943014	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catctttatcagaggcctcaGagggaggcggcggaagggcc	16	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:12943014G>C	ENST00000235349.5	-	2	272	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	68					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCCTCAGAGGGAGGCGG	0.597																																																	0													35	40	38					1																	12943014		2184	4268	6452	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.202C>G	1.37:g.12943014G>C	ENSP00000235349:p.Leu68Val		Q5LJB5	Missense_Mutation	SNP	NULL	p.L68V	ENST00000235349.5	37	c.202	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	g	10.55	1.380658	0.24944	.	.	ENSG00000243073	ENST00000235349	T	0.18174	2.23	1.48	0.471	0.16752	.	0.296062	0.28504	N	0.015119	T	0.23014	0.0556	L	0.41027	1.25	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.13176	-1.0519	10	0.21014	T	0.42	.	5.7377	0.18075	0.0:0.3378:0.6622:0.0	.	68	O60810	PRAM4_HUMAN	V	68	ENSP00000235349:L68V	ENSP00000235349:L68V	L	-	1	2	PRAMEF4	12865601	0.496000	0.26059	0.011000	0.14972	0.020000	0.10135	1.273000	0.33121	0.160000	0.19432	0.400000	0.26472	CTG	PRAMEF4	-	NULL		0.597	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	G	NM_001009611		12943014	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.014	C	C	12943014	G	C	12943014	3	2	153	1	0	0	0	0	1	0	0	0	12464	933	33	1	1246	1	PRAMEF4	1	12943014	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2517357	12943014	236307607	9	25983										
KAZ	23254	genome.wustl.edu	37	chr1	15386730	15386730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctccgacgcatctgccgccGaaggcgaccggtcgtccaca	11	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:15386730G>A	ENST00000376030.2	+	6	1273	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	KAZN_ENST00000400798.2_Missense_Mutation_p.E233K|KAZN_ENST00000422387.2_Missense_Mutation_p.E327K|KAZN_ENST00000400797.3_Missense_Mutation_p.E233K|KAZN_ENST00000361144.5_Missense_Mutation_p.E321K|KAZN_ENST00000503743.1_Missense_Mutation_p.E327K	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	327	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATCTGCCGCCGAAGGCGACCG	0.667																																																	0													89	91	90					1																	15386730		2203	4300	6503	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.979G>A	1.37:g.15386730G>A	ENSP00000365198:p.Glu327Lys		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E327K	ENST00000376030.2	37	c.979	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.306594	0.95629	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T	0.19394	2.15	5.37	5.37	0.77165	.	0.049637	0.85682	D	0.000000	T	0.27098	0.0664	L	0.34521	1.04	0.58432	D	0.999991	D;P;D;D	0.69078	0.975;0.89;0.975;0.997	B;B;B;P	0.51742	0.4;0.197;0.374;0.678	T	0.00792	-1.1564	10	0.30078	T	0.28	-22.4433	18.1017	0.89508	0.0:0.0:1.0:0.0	.	327;233;321;327	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	K	327;327;327;321;233;233	ENSP00000365198:E327K	ENSP00000354727:E321K	E	+	1	0	KAZN	15259317	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.238000	0.95380	2.528000	0.85240	0.561000	0.74099	GAA	KAZN	-	NULL		0.667	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15386730	1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15386730	G	A	15386730	3	1	153	1	0	0	0	0	1	0	0	0	8008	1059	37	1	1213	1	KAZ	1	15386730	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2443716	15386730	233863891	10	25984										
PLEKHM2	23207	genome.wustl.edu	37	chr1	16060403	16060403	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgacagtctctgccgcggcCgagcctcccgagacccctgg	13	18	1	1	rs373431155		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:16060403C>T	ENST00000375799.3	+	20	3261	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.R992*|SLC25A34_ENST00000294454.5_5'Flank	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	1012					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCGCGGCCGAGCCTCCCG	0.652																																																	0								C	stop/ARG	0,4138		0,0,2069	25	31	29		3034	-1.9	1	1		29	1,8409		0,1,4204	no	stop-gained	PLEKHM2	NM_015164.2		0,1,6273	TT,TC,CC		0.0119,0.0,0.0080		1012/1020	16060403	1,12547	2069	4205	6274	SO:0001587	stop_gained	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.3034C>T	1.37:g.16060403C>T	ENSP00000364956:p.Arg1012*		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Nonsense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.R1012*	ENST00000375799.3	37	c.3034	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.740894	0.98935	0.0	1.19E-4	ENSG00000116786	ENST00000375799;ENST00000375793	.	.	.	5.39	-1.88	0.07713	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2635	19.9148	0.97053	0.1754:0.8246:0.0:0.0	.	.	.	.	X	1012;992	.	ENSP00000364950:R992X	R	+	1	2	PLEKHM2	15932990	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.397000	0.34543	-0.254000	0.09500	-0.397000	0.06425	CGA	PLEKHM2	-	NULL		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	C	NM_015164		16060403	1	no_errors	ENST00000375799	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	16060403	C	T	16060403	4	4	153	1	0	0	0	0	0	1	0	0	12105	644	23	2	3112	2	PLEKHM2	1	16060403	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	673673	16060403	233190218	11	25985										
SPEN	23013	genome.wustl.edu	37	chr1	16237768	16237768	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaacttttctttggcatgcaGattgaagtaacagcatggat	9	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:16237768G>C	ENST00000375759.3	+	5	1419	c.1215G>C	c.(1213-1215)caG>caC	p.Q405H	snoU13_ENST00000459258.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	405	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGGCATGCAGATTGAAGTAA	0.438																																																	0													69	64	66					1																	16237768		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1215G>C	1.37:g.16237768G>C	ENSP00000364912:p.Gln405His		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Q405H	ENST00000375759.3	37	c.1215	CCDS164.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367348|3.367348	0.61513|0.61513	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753|ENST00000442985	T;T|.	0.16597|.	2.33;2.33|.	5.59|5.59	4.69|4.69	0.59074|0.59074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.69178|0.69178	0.3082|0.3082	L|L	0.61036|0.61036	1.89|1.89	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.68179|0.68179	-0.5477|-0.5477	9|5	0.62326|.	D|.	0.03|.	-8.1111|-8.1111	13.0907|13.0907	0.59166|0.59166	0.074:0.0:0.926:0.0|0.074:0.0:0.926:0.0	.|.	405|.	Q96T58|.	MINT_HUMAN|.	H|T	405;364;364|145	ENSP00000364912:Q405H;ENSP00000388021:Q364H|.	ENSP00000364906:Q364H|.	Q|R	+|+	3|2	2|0	SPEN|SPEN	16110355|16110355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.370000|1.370000	0.34238|0.34238	1.393000|1.393000	0.46605|0.46605	-0.217000|-0.217000	0.12591|0.12591	CAG|AGA	SPEN	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.438	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16237768	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16237768	G	C	16237768	3	2	153	1	0	0	0	0	1	0	0	0	15068	933	33	1	1233	1	SPEN	1	16237768	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	177365	16237768	233012853	12	25986										
SPEN	23013	genome.wustl.edu	37	chr1	16260296	16260296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catctccagctcttcccccaGacacaaaggcctctgatgtt	6	16	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:16260296G>C	ENST00000375759.3	+	11	7765	c.7561G>C	c.(7561-7563)Gac>Cac	p.D2521H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2521	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTTCCCCCAGACACAAAGGC	0.562																																																	0													159	164	162					1																	16260296		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7561G>C	1.37:g.16260296G>C	ENSP00000364912:p.Asp2521His		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D2521H	ENST00000375759.3	37	c.7561	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431559	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.17854	2.25	5.16	5.16	0.70880	.	.	.	.	.	T	0.34774	0.0909	L	0.55481	1.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.70716	0.97	T	0.03555	-1.1025	9	0.72032	D	0.01	-22.4307	12.0612	0.53564	0.0793:0.0:0.9207:0.0	.	2521	Q96T58	MINT_HUMAN	H	2521	ENSP00000364912:D2521H	ENSP00000364912:D2521H	D	+	1	0	SPEN	16132883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.590000	0.82653	2.418000	0.82041	0.561000	0.74099	GAC	SPEN	-	NULL		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16260296	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16260296	G	C	16260296	3	2	153	1	0	0	0	0	1	0	0	0	15068	942	33	1	7603	1	SPEN	1	16260296	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	22528	16260296	232990325	13	25987										
KLHDC7A	127707	genome.wustl.edu	37	chr1	18808470	18808470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgggaacaggggctgcctCgggaggccaagccggtgaca	17	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:18808470C>T	ENST00000400664.1	+	1	1047	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	332						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCTGCCTCGGGAGGCCAA	0.692																																																	0													14	17	16					1																	18808470		2181	4266	6447	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.995C>T	1.37:g.18808470C>T	ENSP00000383505:p.Ser332Leu		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.S332L	ENST00000400664.1	37	c.995	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162215	0.57368	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.73363	-0.74	5.02	3.09	0.35607	.	2.335370	0.01777	U	0.031507	T	0.64046	0.2563	L	0.40543	1.245	0.09310	N	1	B;B	0.30146	0.113;0.27	B;B	0.14023	0.01;0.01	T	0.48581	-0.9023	10	0.39692	T	0.17	.	3.7105	0.08418	0.171:0.5719:0.1657:0.0914	.	269;332	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	332;269	ENSP00000383505:S332L	ENSP00000383505:S332L	S	+	2	0	KLHDC7A	18681057	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.591000	0.23969	0.474000	0.27392	0.313000	0.20887	TCG	KLHDC7A	-	NULL		0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18808470	1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.000	T	T	18808470	C	T	18808470	3	4	153	1	0	0	0	0	1	0	0	0	8380	893	31	1	997	1	KLHDC7A	1	18808470	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2548174	18808470	230442151	14	25988										
PQLC2	54896	genome.wustl.edu	37	chr1	19651254	19651254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgctgaccagctgcccctgCaggtgggccggtacccgggc	15	15	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:19651254C>A	ENST00000375153.3	+	3	932	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	PQLC2_ENST00000375155.3_Missense_Mutation_p.Q98K|PQLC2_ENST00000400548.2_Missense_Mutation_p.Q33K	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	98	PQ-loop 1.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCCCCTGCAGGTGGGCCG	0.652																																																	0													59	52	55					1																	19651254		2203	4300	6503	SO:0001583	missense	54896			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.292C>A	1.37:g.19651254C>A	ENSP00000364295:p.Gln98Lys		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,smart_CTNS	p.Q98K	ENST00000375153.3	37	c.292	CCDS195.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.229747	0.95173	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548;ENST00000432465	T;T	0.54866	0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84520	0.0627	10	0.66056	D	0.02	-13.4965	17.6489	0.88157	0.0:1.0:0.0:0.0	.	98	Q6ZP29	PQLC2_HUMAN	K	98;98;33;3	ENSP00000364297:Q98K;ENSP00000364295:Q98K	ENSP00000364295:Q98K	Q	+	1	0	PQLC2	19523841	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.540000	0.82074	2.502000	0.84385	0.462000	0.41574	CAG	PQLC2	-	superfamily_MFS_dom_general_subst_transpt		0.652	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PQLC2	HGNC	protein_coding	OTTHUMT00000007255.1	C	NM_017765		19651254	1	no_errors	ENST00000375153	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19651254	C	A	19651254	3	1	153	1	0	0	0	0	1	0	0	0	12446	711	25	4	298	4	PQLC2	1	19651254	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	842784	19651254	229599367	15	25989										
HTR6	3362	genome.wustl.edu	37	chr1	19992308	19992308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctggggggcagggccgccgtCggccccggggggcagcggct	22	14	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:19992308C>T	ENST00000289753.1	+	1	529	c.62C>T	c.(61-63)tCg>tTg	p.S21L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	21					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.S21L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	gggccgccgtcggccccgggg	0.736																																					Esophageal Squamous(168;1879 2619 6848 21062)												1	Substitution - Missense(1)	lung(1)											5	6	6					1																	19992308		1282	2951	4233	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.62C>T	1.37:g.19992308C>T	ENSP00000289753:p.Ser21Leu		Q13640|Q5TGZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.S21L	ENST00000289753.1	37	c.62	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375079	0.24857	.	.	ENSG00000158748	ENST00000289753	T	0.36699	1.24	2.76	1.82	0.25136	.	1.159010	0.06476	U	0.731954	T	0.22322	0.0538	N	0.14661	0.345	0.18873	N	0.999982	B	0.06786	0.001	B	0.01281	0.0	T	0.22977	-1.0201	9	.	.	.	.	9.272	0.37677	0.0:0.7769:0.2231:0.0	.	21	P50406	5HT6R_HUMAN	L	21	ENSP00000289753:S21L	.	S	+	2	0	HTR6	19864895	0.000000	0.05858	0.095000	0.20976	0.500000	0.33767	0.417000	0.21214	0.696000	0.31696	0.313000	0.20887	TCG	HTR6	-	prints_5HT6_rcpt		0.736	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	HGNC	protein_coding	OTTHUMT00000007704.1	C	NM_000871		19992308	1	no_errors	ENST00000289753	ensembl	human	known	70_37	missense	SNP	0.654	T	T	19992308	C	T	19992308	3	4	153	1	0	0	0	0	1	0	0	0	7471	893	31	1	64	1	HTR6	1	19992308	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	341054	19992308	229258313	16	25990										
CELA3A	10136	genome.wustl.edu	37	chr1	22333386	22333386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccagcaatgacatcgccctCatcaagctctcacgcagcgc	7	18	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:22333386C>T	ENST00000290122.3	+	5	397	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	126	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACATCGCCCTCATCAAGCTCT	0.622																																																	0													87	79	82					1																	22333386		2199	4300	6499	SO:0001819	synonymous_variant	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.378C>T	1.37:g.22333386C>T			B1AQ53|Q9BRW4	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L126	ENST00000290122.3	37	c.378	CCDS220.1	1																																																																																			CELA3A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	C	NM_005747		22333386	1	no_errors	ENST00000290122	ensembl	human	known	70_37	silent	SNP	0.010	T	T	22333386	C	T	22333386	2	4	153	1	0	0	0	0	0	0	0	1	3218	813	29	1		1	CELA3A	1	22333386	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2341078	22333386	226917235	17	25991										
LUZP1	7798	genome.wustl.edu	37	chr1	23418235	23418235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaatggagagctcaaaaggGgagctgacatggttgctaac	14	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:23418235G>A	ENST00000302291.4	-	4	3321	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	LUZP1_ENST00000314174.5_Silent_p.S840S|LUZP1_ENST00000418342.1_Silent_p.S840S|LUZP1_ENST00000374623.3_Silent_p.S840S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	840					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCAAAAGGGGAGCTGACAT	0.567																																																	0													90	86	87					1																	23418235		2203	4300	6503	SO:0001819	synonymous_variant	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2520C>T	1.37:g.23418235G>A			Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	NULL	p.S840	ENST00000302291.4	37	c.2520	CCDS30628.1	1																																																																																			LUZP1	-	NULL		0.567	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	G	NM_033631		23418235	-1	no_errors	ENST00000302291	ensembl	human	known	70_37	silent	SNP	0.019	A	A	23418235	G	A	23418235	2	1	153	1	0	0	0	0	0	0	0	1	9109	1219	43	4		4	LUZP1	1	23418235	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1084849	23418235	225832386	18	25992										
GRHL3	57822	genome.wustl.edu	37	chr1	24664502	24664502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtgtggtgatggttgtcttCgacaatgagaaggtcccagt	14	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:24664502C>T	ENST00000350501.5	+	7	988	c.861C>T	c.(859-861)ttC>ttT	p.F287F	GRHL3_ENST00000342072.4_Silent_p.F194F|GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000236255.4_Silent_p.F292F|GRHL3_ENST00000361548.4_Silent_p.F287F	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	287					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGGTTGTCTTCGACAATGAGA	0.572																																																	0													137	125	129					1																	24664502		2203	4300	6503	SO:0001819	synonymous_variant	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.861C>T	1.37:g.24664502C>T			A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F287	ENST00000350501.5	37	c.861	CCDS252.2	1																																																																																			GRHL3	-	pfam_CP2		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	C	NM_021180		24664502	1	no_errors	ENST00000350501	ensembl	human	known	70_37	silent	SNP	0.995	T	T	24664502	C	T	24664502	2	4	153	1	0	0	0	0	0	0	0	1	6785	883	31	1		1	GRHL3	1	24664502	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1246267	24664502	224586119	19	25993										
STMN1	3925	genome.wustl.edu	37	chr1	26227541	26227541	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctcgtcagcagggtctttgGattctttgttcttccgcact	9	11	5	0	rs3209829		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:26227541G>C	ENST00000399728.1	-	5	779	c.416C>G	c.(415-417)tCc>tGc	p.S139C	STMN1_ENST00000426559.2_Intron|STMN1_ENST00000455785.2_Missense_Mutation_p.S139C|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000374291.1_Missense_Mutation_p.S139C|STMN1_ENST00000357865.2_Missense_Mutation_p.S139C	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	139	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTCTTTGGATTCTTTGTT	0.408																																																	0													211	201	205					1																	26227541		2203	4300	6503	SO:0001583	missense	3925			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"oncoprotein 18"	151442	"chromosome 1 open reading frame 215", "stathmin 1/oncoprotein 18"	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.416C>G	1.37:g.26227541G>C	ENSP00000382633:p.Ser139Cys		A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.S139C	ENST00000399728.1	37	c.416	CCDS269.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078567	0.36662	.	.	ENSG00000117632	ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291	.	.	.	5.76	5.76	0.90799	.	0.224031	0.46758	D	0.000279	T	0.24547	0.0595	N	0.12182	0.205	0.22001	N	0.999426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09058	-1.0692	9	0.48119	T	0.1	.	8.8336	0.35098	0.0794:0.1988:0.7218:0.0	.	139;139	B5BU83;P16949	.;STMN1_HUMAN	C	139	.	ENSP00000350531:S139C	S	-	2	0	STMN1	26100128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.836000	0.62789	2.710000	0.92621	0.655000	0.94253	TCC	STMN1	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam		0.408	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN1	HGNC	protein_coding	OTTHUMT00000019359.1	G	NM_005563		26227541	-1	no_errors	ENST00000357865	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26227541	G	C	26227541	3	2	153	1	0	0	0	0	1	0	0	0	15338	1174	41	1	188	1	STMN1	1	26227541	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1563039	26227541	223023080	20	25994										
GPATCH3	63906	genome.wustl.edu	37	chr1	27218951	27218951	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccatcactatccagggcctCaggcacccctgagcacctgc	9	18	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:27218951C>G	ENST00000361720.5	-	6	1335	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	GPN2_ENST00000374135.4_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	438	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCAGGGCCTCAGGCACCCCT	0.637																																																	0													61	61	61					1																	27218951		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.1312G>C	1.37:g.27218951C>G	ENSP00000354645:p.Glu438Gln		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E438Q	ENST00000361720.5	37	c.1312	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893243	0.91889	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000450844	T;T	0.34859	1.34;1.34	4.66	4.66	0.58398	D111/G-patch (3);	0.124924	0.53938	D	0.000043	T	0.51363	0.1670	L	0.50847	1.595	0.80722	D	1	D	0.56746	0.977	P	0.59424	0.857	T	0.51585	-0.8687	10	0.51188	T	0.08	-16.0957	17.7674	0.88482	0.0:1.0:0.0:0.0	.	438	Q96I76	GPTC3_HUMAN	Q	438;420;56	ENSP00000354645:E438Q;ENSP00000399036:E56Q	ENSP00000354645:E438Q	E	-	1	0	GPATCH3	27091538	1.000000	0.71417	0.992000	0.48379	0.864000	0.49448	7.107000	0.77047	2.431000	0.82371	0.655000	0.94253	GAG	GPATCH3	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.637	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27218951	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27218951	C	G	27218951	3	3	153	1	0	0	0	0	1	0	0	0	6611	835	29	1	273	1	GPATCH3	1	27218951	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	991410	27218951	222031670	21	25995										
SESN2	83667	genome.wustl.edu	37	chr1	28598238	28598238	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacctggggctggaggcactGatgtcctctgggcgagtaga	16	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:28598238G>A	ENST00000253063.3	+	3	531	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	70					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGCACTGATGTCCTCTG	0.632																																																	0													84	77	79					1																	28598238		2203	4300	6503	SO:0001819	synonymous_variant	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.210G>A	1.37:g.28598238G>A			Q5T7D0|Q96SI5	Silent	SNP	pfam_PA26	p.L70	ENST00000253063.3	37	c.210	CCDS321.1	1																																																																																			SESN2	-	pfam_PA26		0.632	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	G			28598238	1	no_errors	ENST00000253063	ensembl	human	known	70_37	silent	SNP	0.781	A	A	28598238	G	A	28598238	2	1	153	1	0	0	0	0	0	0	0	1	14155	1277	45	1		1	SESN2	1	28598238	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1379287	28598238	220652383	22	25996										
PHACTR4	65979	genome.wustl.edu	37	chr1	28793215	28793215	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaagcctcactcatatggtCcctgccaagcagccccctat	6	18	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:28793215C>T	ENST00000373839.3	+	6	1020	c.759C>T	c.(757-759)gtC>gtT	p.V253V	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.V263V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	253	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATATGGTCCCTGCCAAGC	0.532																																																	0													76	80	79					1																	28793215		1994	4173	6167	SO:0001819	synonymous_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.759C>T	1.37:g.28793215C>T			A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.V263	ENST00000373839.3	37	c.789	CCDS41293.1	1																																																																																			PHACTR4	-	NULL		0.532	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	C	NM_023923		28793215	1	no_errors	ENST00000373836	ensembl	human	known	70_37	silent	SNP	0.761	T	T	28793215	C	T	28793215	2	4	153	1	0	0	0	0	0	0	0	1	11836	842	30	1		1	PHACTR4	1	28793215	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	194977	28793215	220457406	23	25997										
TRNAU1AP	54952	genome.wustl.edu	37	chr1	28904068	28904068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggagttcatggaacagagtGaggagctgtatgacgctctg	15	6	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:28904068G>A	ENST00000373830.3	+	9	810	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNORD99_ENST00000408612.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	262					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GGAACAGAGTGAGGAGCTGTA	0.557																																																	0													190	178	182					1																	28904068		2203	4300	6503	SO:0001583	missense	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.784G>A	1.37:g.28904068G>A	ENSP00000362936:p.Glu262Lys		Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E262K	ENST00000373830.3	37	c.784	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.434953	0.96150	.	.	ENSG00000180098	ENST00000373830	T	0.60920	0.15	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67814	-0.5573	10	0.23302	T	0.38	.	18.6987	0.91613	0.0:0.0:1.0:0.0	.	262	Q9NX07	TSAP1_HUMAN	K	262	ENSP00000362936:E262K	ENSP00000362936:E262K	E	+	1	0	TRNAU1AP	28776655	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.833000	0.92089	2.763000	0.94921	0.591000	0.81541	GAG	TRNAU1AP	-	NULL		0.557	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	G	NM_017846		28904068	1	no_errors	ENST00000373830	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28904068	G	A	28904068	3	1	153	1	0	0	0	0	1	0	0	0	16603	1291	45	1	818	1	TRNAU1AP	1	28904068	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	110853	28904068	220346553	24	25998										
BAI2	576	genome.wustl.edu	37	chr1	32201189	32201189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccccccccttacccggccctCtgcttcttggatttgtcgga	8	18	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:32201189C>T	ENST00000373658.3	-	24	3686	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Silent_p.Q1048Q|BAI2_ENST00000398538.1_Silent_p.Q1103Q|BAI2_ENST00000398556.3_Silent_p.Q1063Q|BAI2_ENST00000257070.4_Silent_p.Q1115Q|BAI2_ENST00000398542.1_Silent_p.Q1048Q|BAI2_ENST00000373655.2_Silent_p.Q1115Q|BAI2_ENST00000527361.1_Silent_p.Q1115Q|BAI2_ENST00000440175.2_Silent_p.Q757Q	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1115					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCCGGCCCTCTGCTTCTTGG	0.572																																																	0													50	45	47					1																	32201189		2203	4300	6503	SO:0001819	synonymous_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3345G>A	1.37:g.32201189C>T			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.Q1115	ENST00000373658.3	37	c.3345	CCDS346.2	1																																																																																			BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.572	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32201189	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32201189	C	T	32201189	2	4	153	1	0	0	0	0	0	0	0	1	1300	912	32	1		1	BAI2	1	32201189	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3297121	32201189	217049432	25	25999										
TXLNA	200081	genome.wustl.edu	37	chr1	32655836	32655836	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaagctgattgagcagtatGagctgcgcgaggaggtaagg	17	5	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:32655836G>C	ENST00000373609.1	+	5	1230	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	TXLNA_ENST00000373610.3_Missense_Mutation_p.E317Q			P40222	TXLNA_HUMAN	taxilin alpha	317					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGCAGTATGAGCTGCGCGA	0.532																																																	0													72	60	64					1																	32655836		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.949G>C	1.37:g.32655836G>C	ENSP00000362711:p.Glu317Gln		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E317Q	ENST00000373609.1	37	c.949	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268841	0.80469	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.35605	1.3;1.3	4.85	4.85	0.62838	.	0.048720	0.85682	D	0.000000	T	0.50599	0.1625	M	0.68952	2.095	0.58432	D	0.999999	P	0.46784	0.884	P	0.50537	0.643	T	0.55186	-0.8180	10	0.59425	D	0.04	-26.2381	18.3414	0.90307	0.0:0.0:1.0:0.0	.	317	P40222	TXLNA_HUMAN	Q	317	ENSP00000362712:E317Q;ENSP00000362711:E317Q	ENSP00000362711:E317Q	E	+	1	0	TXLNA	32428423	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.769000	0.85360	2.412000	0.81896	0.650000	0.86243	GAG	TXLNA	-	pfam_Taxilin_fam		0.532	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32655836	1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32655836	G	C	32655836	3	2	153	1	0	0	0	0	1	0	0	0	16818	1291	45	1	967	1	TXLNA	1	32655836	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	454647	32655836	216594785	26	26000										
ZSCAN20	7579	genome.wustl.edu	37	chr1	33960287	33960287	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttagtgaccattctaatctCatcactcaccagagaattca	4	11	5	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:33960287C>G	ENST00000361328.3	+	8	2496	c.2343C>G	c.(2341-2343)ctC>ctG	p.L781L		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	781					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATTCTAATCTCATCACTCACC	0.438																																																	0													76	82	80					1																	33960287		2112	4256	6368	SO:0001819	synonymous_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2343C>G	1.37:g.33960287C>G			A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L781	ENST00000361328.3	37	c.2343	CCDS41300.1	1																																																																																			ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	C	NM_145238		33960287	1	no_errors	ENST00000326544	ensembl	human	known	70_37	silent	SNP	0.000	G	G	33960287	C	G	33960287	2	3	153	1	0	0	0	0	0	0	0	1	18262	813	29	1		1	ZSCAN20	1	33960287	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1304451	33960287	215290334	27	26001										
CSMD2	114784	genome.wustl.edu	37	chr1	34049381	34049381	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttccagggtagctctggctCaggatcacgcctgtggagtc	13	12	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:34049381C>G	ENST00000373381.4	-	47	7277	c.7101G>C	c.(7099-7101)ctG>ctC	p.L2367L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2369	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTCTGGCTCAGGATCACGC	0.527																																																	0													98	95	96					1																	34049381		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7101G>C	1.37:g.34049381C>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2367	ENST00000373381.4	37	c.7101		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		C	NM_052896		34049381	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	0.994	G	G	34049381	C	G	34049381	2	3	153	1	0	0	0	0	0	0	0	1	3950	813	29	1		1	CSMD2	1	34049381	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	89094	34049381	215201240	28	26002										
ZMYM6	9204	genome.wustl.edu	37	chr1	35454253	35454253	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaactattttgacattccatTtctaaagatttttgttcaaa	4	6	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:35454253T>A	ENST00000357182.4	-	16	2657	c.2430A>T	c.(2428-2430)gaA>gaT	p.E810D	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	810					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				gacattccatttctaaagatt	0.299																																																	0													19	16	17					1																	35454253		1209	2763	3972	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2430A>T	1.37:g.35454253T>A	ENSP00000349708:p.Glu810Asp		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.E810D	ENST00000357182.4	37	c.2430	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	T	9.253	1.041332	0.19669	.	.	ENSG00000163867	ENST00000357182	T	0.09073	3.02	3.94	3.94	0.45596	.	0.744958	0.12130	N	0.496872	T	0.07188	0.0182	L	0.35854	1.095	0.80722	D	1	B	0.18863	0.031	B	0.14023	0.01	T	0.18178	-1.0345	10	0.15066	T	0.55	-6.8753	9.4198	0.38544	0.0:0.0:0.0:1.0	.	810	O95789	ZMYM6_HUMAN	D	810	ENSP00000349708:E810D	ENSP00000349708:E810D	E	-	3	2	ZMYM6	35226840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.628000	0.24522	1.778000	0.52293	0.533000	0.62120	GAA	ZMYM6	-	NULL		0.299	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	T	NM_007167		35454253	-1	no_errors	ENST00000357182	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35454253	T	A	35454253	3	1	153	1	0	0	0	0	1	0	0	0	17734	1838	64	5	1551	5	ZMYM6	1	35454253	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	1404872	35454253	213796368	29	26003										
ZMYM1	79830	genome.wustl.edu	37	chr1	35579238	35579238	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataaaggagaagaaacatttCgacttatgaattcacaagtt	7	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:35579238C>T	ENST00000373330.1	+	11	1981	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.R603*			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	603						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAAACATTTCGACTTATGAA	0.313																																																	0													44	43	43					1																	35579238		1828	4066	5894	SO:0001587	stop_gained	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1807C>T	1.37:g.35579238C>T	ENSP00000362427:p.Arg603*		D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH	p.R603*	ENST00000373330.1	37	c.1807	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600403	0.66332	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	4.44	3.51	0.40186	.	0.540328	0.15615	N	0.253162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2192	5.5425	0.17045	0.1987:0.703:0.0:0.0983	.	.	.	.	X	603;528;603	.	.	R	+	1	2	ZMYM1	35351825	0.001000	0.12720	0.254000	0.24359	0.435000	0.31806	-0.559000	0.05971	1.417000	0.47077	0.591000	0.81541	CGA	ZMYM1	-	NULL		0.313	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	C	NM_024772		35579238	1	no_errors	ENST00000359858	ensembl	human	known	70_37	nonsense	SNP	0.071	T	T	35579238	C	T	35579238	4	4	153	1	0	0	0	0	0	1	0	0	17729	876	31	1	1841	1	ZMYM1	1	35579238	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	124985	35579238	213671383	30	26004										
MACF1	23499	genome.wustl.edu	37	chr1	39853296	39853296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attgtaaagctaagatgtctGagttgcgagtcactctggat	11	6	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:39853296G>C	ENST00000372915.3	+	57	14884	c.14797G>C	c.(14797-14799)Gag>Cag	p.E4933Q	MACF1_ENST00000289893.4_Missense_Mutation_p.E3368Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4965Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2845Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2866Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E4928Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2866Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2866Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4933					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGATGTCTGAGTTGCGAGT	0.478																																																	0													62	60	61					1																	39853296		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14797G>C	1.37:g.39853296G>C	ENSP00000362006:p.Glu4933Gln		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2866Q	ENST00000372915.3	37	c.8596		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.50|18.50	3.638484|3.638484	0.67130|0.67130	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.269982|.	0.32015|.	N|.	0.006705|.	T|.	0.75317|.	0.3833|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;P;P|.	0.51057|.	0.262;0.941;0.916|.	B;P;P|.	0.55871|.	0.379;0.786;0.642|.	T|.	0.69978|.	-0.4998|.	10|.	0.31617|.	T|.	0.26|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4933;2866;2810|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|S	2866;4933;2866;2866;2845;3368|1978	ENSP00000439537:E2866Q;ENSP00000362006:E4933Q;ENSP00000354573:E2866Q;ENSP00000313438:E2866Q;ENSP00000444364:E2845Q;ENSP00000289893:E3368Q|.	ENSP00000289893:E3368Q|.	E|X	+|+	1|2	0|2	MACF1|MACF1	39625883|39625883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.912000|7.912000	0.87465|0.87465	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39853296	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39853296	G	C	39853296	3	2	153	1	0	0	0	0	1	0	0	0	9167	1291	45	1	14957	1	MACF1	1	39853296	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4274058	39853296	209397325	31	26005										
LEPRE1	64175	genome.wustl.edu	37	chr1	43213019	43213019	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccctggtgacagccttcactCcatgtgggttttcagtgcct	10	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:43213019C>G	ENST00000296388.5	-	14	2030	c.1979G>C	c.(1978-1980)gGa>gCa	p.G660A	LEPRE1_ENST00000236040.4_Missense_Mutation_p.G660A|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.G660A			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	660	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCCTTCACTCCATGTGGGTT	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55	56	56					1																	43213019		2202	4300	6502	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1979G>C	1.37:g.43213019C>G	ENSP00000296388:p.Gly660Ala	914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G660A	ENST00000296388.5	37	c.1979	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881413	0.91740	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.60424	0.19;0.19;0.19	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76547	-0.2919	10	0.87932	D	0	-16.8943	16.4003	0.83639	0.0:1.0:0.0:0.0	.	660;525;660	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	660;660;660;525	ENSP00000380245:G660A;ENSP00000236040:G660A;ENSP00000296388:G660A	ENSP00000236040:G660A	G	-	2	0	LEPRE1	42985606	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.466000	0.80914	2.466000	0.83321	0.655000	0.94253	GGA	LEPRE1	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.627	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	C	NM_022356		43213019	-1	no_errors	ENST00000236040	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43213019	C	G	43213019	3	3	153	1	0	0	0	0	1	0	0	0	8749	855	30	1	258	1	LEPRE1	1	43213019	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3359723	43213019	206037602	32	26006										
PRDX1	5052	genome.wustl.edu	37	chr1	45977049	45977049	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcttttggacatcaggcttGatggtatcactgccaggttt	10	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:45977049G>C	ENST00000262746.1	-	6	891	c.552C>G	c.(550-552)atC>atG	p.I184M	PRDX1_ENST00000372079.1_Missense_Mutation_p.I82M|PRDX1_ENST00000319248.8_Missense_Mutation_p.I184M	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	184					cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CATCAGGCTTGATGGTATCAC	0.488																																																	0													194	201	198					1																	45977049		2203	4300	6503	SO:0001583	missense	5052			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.552C>G	1.37:g.45977049G>C	ENSP00000262746:p.Ile184Met		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.I184M	ENST00000262746.1	37	c.552	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053157	0.75960	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.45276	0.9;0.9;0.9	5.04	5.04	0.67666	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.053538	0.64402	D	0.000001	T	0.44222	0.1283	L	0.31065	0.9	0.80722	D	1	B	0.29136	0.234	B	0.43052	0.406	T	0.32188	-0.9916	10	0.26408	T	0.33	-13.7884	18.4088	0.90543	0.0:0.0:1.0:0.0	.	184	Q06830	PRDX1_HUMAN	M	184;184;82	ENSP00000262746:I184M;ENSP00000361152:I184M;ENSP00000361150:I82M	ENSP00000262746:I184M	I	-	3	3	PRDX1	45749636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.734000	0.84928	2.344000	0.79699	0.462000	0.41574	ATC	PRDX1	-	pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold		0.488	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	G	NM_181697		45977049	-1	no_errors	ENST00000262746	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45977049	G	C	45977049	3	2	153	1	0	0	0	0	1	0	0	0	12491	1280	45	1	51	1	PRDX1	1	45977049	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2764030	45977049	203273572	33	26007										
PRDX1	5052	genome.wustl.edu	37	chr1	45980297	45980297	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaatacccttatcatcaatGataaaaaggcccctgggaaa	7	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:45980297G>A	ENST00000262746.1	-	5	735	c.396C>T	c.(394-396)atC>atT	p.I132I	PRDX1_ENST00000372079.1_Silent_p.I30I|PRDX1_ENST00000483583.1_5'Flank|PRDX1_ENST00000319248.8_Silent_p.I132I	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	132	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TATCATCAATGATAAAAAGGC	0.443																																																	0													97	97	97					1																	45980297		2203	4300	6503	SO:0001819	synonymous_variant	5052			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.396C>T	1.37:g.45980297G>A			B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Silent	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.I132	ENST00000262746.1	37	c.396	CCDS522.1	1																																																																																			PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold		0.443	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	G	NM_181697		45980297	-1	no_errors	ENST00000262746	ensembl	human	known	70_37	silent	SNP	0.992	A	A	45980297	G	A	45980297	2	1	153	1	0	0	0	0	0	0	0	1	12491	1280	45	1		1	PRDX1	1	45980297	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3248	45980297	203270324	34	26008										
KTI12	112970	genome.wustl.edu	37	chr1	52498428	52498428	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggccagttgcggcaagttctCattgttgggatgcattttag	13	7	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:52498428C>T	ENST00000371614.1	-	1	1060	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	336							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGCAAGTTCTCATTGTTGGGA	0.522																																																	0													88	87	87					1																	52498428		2203	4300	6503	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.1006G>A	1.37:g.52498428C>T	ENSP00000360676:p.Glu336Lys			Missense_Mutation	SNP	pfam_Chromatin_KTI12	p.E336K	ENST00000371614.1	37	c.1006	CCDS562.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242231	0.79912	.	.	ENSG00000198841	ENST00000371614	T	0.30714	1.52	4.64	4.64	0.57946	.	0.074454	0.50627	U	0.000105	T	0.44746	0.1308	L	0.50919	1.6	0.58432	D	0.999996	D	0.64830	0.994	D	0.69824	0.966	T	0.23013	-1.0200	10	0.06494	T	0.89	.	16.682	0.85295	0.0:1.0:0.0:0.0	.	336	Q96EK9	KTI12_HUMAN	K	336	ENSP00000360676:E336K	ENSP00000360676:E336K	E	-	1	0	KTI12	52271016	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	5.199000	0.65152	2.396000	0.81511	0.557000	0.71058	GAG	KTI12	-	pfam_Chromatin_KTI12		0.522	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KTI12	HGNC	protein_coding	OTTHUMT00000023821.1	C	NM_138417		52498428	-1	no_errors	ENST00000371614	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52498428	C	T	52498428	3	4	153	1	0	0	0	0	1	0	0	0	8604	835	29	1	62	1	KTI12	1	52498428	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6518131	52498428	196752193	35	26009										
MAGOH	4116	genome.wustl.edu	37	chr1	53694605	53694605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtaaaagaaatgtgttcatCtccaatgacgatttcaagct	7	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:53694605C>T	ENST00000371470.3	-	4	441	c.280G>A	c.(280-282)Gat>Aat	p.D94N	MAGOH_ENST00000371466.4_Missense_Mutation_p.D57N	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	94					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGTGTTCATCTCCAATGACG	0.338																																					Colon(150;521 2416 7674 18129)												0													119	109	112					1																	53694605		2203	4300	6503	SO:0001583	missense	4116			AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.280G>A	1.37:g.53694605C>T	ENSP00000360525:p.Asp94Asn		B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.D94N	ENST00000371470.3	37	c.280	CCDS577.1	1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554369	0.27739	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	N	0.11673	0.155	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.37220	-0.9715	9	0.02654	T	1	-13.6421	19.3291	0.94278	0.0:1.0:0.0:0.0	.	57;94	B1ARP8;P61326	.;MGN_HUMAN	N	94;57	.	ENSP00000360521:D57N	D	-	1	0	MAGOH	53467193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.358000	0.79466	2.582000	0.87167	0.655000	0.94253	GAT	MAGOH	-	pfam_Mago_nashi,superfamily_Mago_nashi		0.338	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOH	HGNC	protein_coding	OTTHUMT00000024730.1	C	NM_002370		53694605	-1	no_errors	ENST00000371470	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53694605	C	T	53694605	3	4	153	1	0	0	0	0	1	0	0	0	9217	913	32	1	168	1	MAGOH	1	53694605	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1196177	53694605	195556016	36	26010										
LRRC42	115353	genome.wustl.edu	37	chr1	54428065	54428065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcatagtaactgcaagacaGagggctgggctgaccaggta	13	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:54428065G>A	ENST00000371370.3	+	7	1431	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LRRC42_ENST00000319223.4_Missense_Mutation_p.E304K|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	304								p.E304Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGCAAGACAGAGGGCTGGGC	0.443																																																	1	Substitution - Missense(1)	lung(1)											95	94	95					1																	54428065		2203	4300	6503	SO:0001583	missense	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.910G>A	1.37:g.54428065G>A	ENSP00000360421:p.Glu304Lys		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.E304K	ENST00000371370.3	37	c.910	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463111	0.84425	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	6.08	6.08	0.98989	.	0.144593	0.64402	D	0.000009	T	0.48021	0.1477	L	0.27053	0.805	0.49389	D	0.999789	D	0.58620	0.983	P	0.47206	0.541	T	0.46247	-0.9205	9	0.51188	T	0.08	-28.0489	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	304	Q9Y546	LRC42_HUMAN	K	304	.	ENSP00000318185:E304K	E	+	1	0	LRRC42	54200653	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.693000	0.74582	2.894000	0.99253	0.655000	0.94253	GAG	LRRC42	-	NULL		0.443	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	G	NM_052940		54428065	1	no_errors	ENST00000319223	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54428065	G	A	54428065	3	1	153	1	0	0	0	0	1	0	0	0	9023	943	33	1	928	1	LRRC42	1	54428065	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	733460	54428065	194822556	37	26011										
USP24	23358	genome.wustl.edu	37	chr1	55586325	55586325	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagagaggcagctgagccgtGaggattacgcctagaagaaa	14	8	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:55586325G>A	ENST00000294383.6	-	38	4451	c.4452C>T	c.(4450-4452)ctC>ctT	p.L1484L	USP24_ENST00000407756.1_Silent_p.L1324L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1484					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTGAGCCGTGAGGATTACGC	0.468																																																	0													84	76	79					1																	55586325		1991	4175	6166	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4452C>T	1.37:g.55586325G>A			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.L1484	ENST00000294383.6	37	c.4452	CCDS44154.2	1																																																																																			USP24	-	superfamily_ARM-type_fold		0.468	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55586325	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	silent	SNP	0.987	A	A	55586325	G	A	55586325	2	1	153	1	0	0	0	0	0	0	0	1	17086	1277	45	1		1	USP24	1	55586325	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1158260	55586325	193664296	38	26012										
KANK4	163782	genome.wustl.edu	37	chr1	62738964	62738964	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcagcaggttgagggagctCagcagctggctctggatgct	16	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:62738964C>T	ENST00000371153.4	-	3	2190	c.1812G>A	c.(1810-1812)ctG>ctA	p.L604L	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	604						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGAGGGAGCTCAGCAGCTGGC	0.652																																																	0													23	26	25					1																	62738964		2203	4300	6503	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1812G>A	1.37:g.62738964C>T			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L604	ENST00000371153.4	37	c.1812	CCDS620.1	1																																																																																			KANK4	-	NULL		0.652	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	C	NM_181712		62738964	-1	no_errors	ENST00000371153	ensembl	human	known	70_37	silent	SNP	0.948	T	T	62738964	C	T	62738964	2	4	153	1	0	0	0	0	0	0	0	1	7999	813	29	1		1	KANK4	1	62738964	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7152639	62738964	186511657	39	26013										
SGIP1	84251	genome.wustl.edu	37	chr1	67185048	67185048	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgttgcagcagcatttacaGaaacagtcaatgcctatttc	7	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:67185048G>C	ENST00000371037.4	+	19	1779	c.1702G>C	c.(1702-1704)Gaa>Caa	p.E568Q	SGIP1_ENST00000237247.6_Missense_Mutation_p.E599Q|SGIP1_ENST00000371035.3_Missense_Mutation_p.E358Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.E370Q|SGIP1_ENST00000435165.2_Missense_Mutation_p.E73Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.E371Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	568	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATTTACAGAAACAGTCAA	0.453																																																	0													79	72	74					1																	67185048		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1702G>C	1.37:g.67185048G>C	ENSP00000360076:p.Glu568Gln		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.E599Q	ENST00000371037.4	37	c.1795	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284785	0.80803	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.4	5.4	0.78164	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	M	0.88775	2.98	0.80722	D	1	D;P;D;D;D	0.71674	0.998;0.904;0.993;0.993;0.962	D;P;P;P;P	0.74348	0.983;0.659;0.782;0.824;0.882	D	0.86147	0.1585	10	0.87932	D	0	-16.8064	19.1779	0.93611	0.0:0.0:1.0:0.0	.	598;73;170;358;568	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	Q	599;371;358;598;571;370;568;73	ENSP00000237247:E599Q;ENSP00000360078:E371Q;ENSP00000360074:E358Q;ENSP00000360075:E370Q;ENSP00000360076:E568Q;ENSP00000395525:E73Q	ENSP00000237247:E599Q	E	+	1	0	SGIP1	66957636	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	9.415000	0.97375	2.528000	0.85240	0.650000	0.86243	GAA	SGIP1	-	pfam_Muniscin_C-term_mu_dom		0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67185048	1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67185048	G	C	67185048	3	2	153	1	0	0	0	0	1	0	0	0	14236	943	33	1	1776	1	SGIP1	1	67185048	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4446084	67185048	182065573	40	26014										
LRRC40	55631	genome.wustl.edu	37	chr1	70652990	70652990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttctagctctcttatagcaGaaggaagggatgtcaactga	10	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:70652990G>A	ENST00000370952.3	-	3	444	c.365C>T	c.(364-366)tCt>tTt	p.S122F		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	122						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCTTATAGCAGAAGGAAGGGA	0.269																																																	0													71	77	75					1																	70652990		2201	4294	6495	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.365C>T	1.37:g.70652990G>A	ENSP00000359990:p.Ser122Phe		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S122F	ENST00000370952.3	37	c.365	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388920	0.61956	.	.	ENSG00000066557	ENST00000370952	T	0.30448	1.53	5.83	4.9	0.64082	.	0.529195	0.22061	N	0.065174	T	0.10380	0.0254	N	0.11756	0.17	0.34433	D	0.698772	P	0.47034	0.889	B	0.42916	0.402	T	0.03717	-1.1010	10	0.56958	D	0.05	.	10.044	0.42175	0.0831:0.2352:0.6818:0.0	.	122	Q9H9A6	LRC40_HUMAN	F	122	ENSP00000359990:S122F	ENSP00000359990:S122F	S	-	2	0	LRRC40	70425578	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.958000	0.40402	2.741000	0.93983	0.655000	0.94253	TCT	LRRC40	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.269	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	G	NM_017768		70652990	-1	no_errors	ENST00000370952	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70652990	G	A	70652990	3	1	153	1	0	0	0	0	1	0	0	0	9021	942	33	1	1495	1	LRRC40	1	70652990	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3467942	70652990	178597631	41	26015										
ZZZ3	26009	genome.wustl.edu	37	chr1	78034071	78034071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttgcatttgctgaagtttCtgcttctttaactttttaaa	6	7	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:78034071C>T	ENST00000370801.3	-	13	2887	c.2412G>A	c.(2410-2412)caG>caA	p.Q804Q	ZZZ3_ENST00000370798.1_Silent_p.Q310Q|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	804					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTGAAGTTTCTGCTTCTTTA	0.269																																																	0													75	81	79					1																	78034071		2203	4299	6502	SO:0001819	synonymous_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2412G>A	1.37:g.78034071C>T			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.Q804	ENST00000370801.3	37	c.2412	CCDS677.1	1																																																																																			ZZZ3	-	NULL		0.269	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	C	NM_015534		78034071	-1	no_errors	ENST00000370801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	78034071	C	T	78034071	2	4	153	1	0	0	0	0	0	0	0	1	18286	912	32	1		1	ZZZ3	1	78034071	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7381081	78034071	171216550	42	26016										
SAMD13	148418	genome.wustl.edu	37	chr1	84768891	84768891	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccttattgattagttgctGaagtaaaggaaccctgcagc	9	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:84768891G>A	ENST00000370671.3	+	2	93	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SAMD13_ENST00000370673.3_Missense_Mutation_p.E6K|SAMD13_ENST00000370669.1_5'UTR|SAMD13_ENST00000370670.2_5'UTR|SAMD13_ENST00000370668.3_5'UTR|SAMD13_ENST00000394834.3_5'UTR			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	12										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		ATTAGTTGCTGAAGTAAAGGA	0.388																																																	0													79	74	76					1																	84768891		2203	4300	6503	SO:0001583	missense	148418				CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"Sterile alpha motif (SAM) domain containing"	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.34G>A	1.37:g.84768891G>A	ENSP00000359705:p.Glu12Lys		B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,pfscan_SAM	p.E12K	ENST00000370671.3	37	c.34		1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255675	0.39896	.	.	ENSG00000203943	ENST00000370673;ENST00000370671	.	.	.	5.34	5.34	0.76211	.	0.626869	0.15305	N	0.269421	T	0.18383	0.0441	N	0.14661	0.345	0.80722	D	1	P	0.36535	0.557	B	0.27796	0.083	T	0.07558	-1.0766	9	0.16420	T	0.52	-15.205	16.3398	0.83078	0.0:0.0:1.0:0.0	.	6	Q5VXD3-2	.	K	6;12	.	ENSP00000359705:E12K	E	+	1	0	SAMD13	84541479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.108000	0.71522	2.657000	0.90304	0.655000	0.94253	GAA	SAMD13	-	NULL		0.388	SAMD13-003	KNOWN	basic	protein_coding	SAMD13	HGNC	protein_coding	OTTHUMT00000027243.1	G	NM_001010971		84768891	1	no_errors	ENST00000370671	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84768891	G	A	84768891	3	1	153	1	0	0	0	0	1	0	0	0	13848	1291	45	1	22	1	SAMD13	1	84768891	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6734820	84768891	164481730	43	26017										
GBP3	2635	genome.wustl.edu	37	chr1	89476775	89476775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgattctgtttacaaaagtCatcccgctttttgtctagct	6	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:89476775C>T	ENST00000370481.4	-	8	1394	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	150					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTACAAAAGTCATCCCGCTTT	0.393																																																	0													116	91	100					1																	89476775		2191	3971	6162	SO:0001583	missense	2635			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1174G>A	1.37:g.89476775C>T	ENSP00000359512:p.Asp392Asn		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.D392N	ENST00000370481.4	37	c.1174	CCDS717.2	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345326	0.24426	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.54071	0.59	3.79	2.87	0.33458	Guanylate-binding protein, C-terminal (3);	0.374610	0.28338	N	0.015712	T	0.35189	0.0923	M	0.85630	2.765	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.23419	0.038;0.046	T	0.41858	-0.9485	10	0.51188	T	0.08	.	6.0552	0.19807	0.0:0.767:0.0:0.233	.	258;392	F6X827;Q9H0R5	.;GBP3_HUMAN	N	360;392;392	ENSP00000359512:D392N	ENSP00000235878:D392N	D	-	1	0	GBP3	89249363	0.311000	0.24536	0.002000	0.10522	0.066000	0.16364	2.249000	0.43169	0.942000	0.37525	0.603000	0.83216	GAC	GBP3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.393	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3	C	NM_018284		89476775	-1	no_errors	ENST00000370481	ensembl	human	known	70_37	missense	SNP	0.004	T	T	89476775	C	T	89476775	3	4	153	1	0	0	0	0	1	0	0	0	6294	826	29	1	629	1	GBP3	1	89476775	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4707884	89476775	159773846	44	26018										
ZNF326	284695	genome.wustl.edu	37	chr1	90487841	90487841	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaataaaaagagagagtgtCttgactgctacaagcatttt	8	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:90487841C>G	ENST00000340281.4	+	11	1481	c.1338C>G	c.(1336-1338)gtC>gtG	p.V446V	ZNF326_ENST00000370447.3_Silent_p.V357V|ZNF326_ENST00000455342.2_Silent_p.V240V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	446					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAGAGAGTGTCTTGACTGCTA	0.313																																																	0													186	209	201					1																	90487841		2203	4298	6501	SO:0001819	synonymous_variant	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1338C>G	1.37:g.90487841C>G			A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	pfam_AKAP95	p.V446	ENST00000340281.4	37	c.1338	CCDS727.1	1																																																																																			ZNF326	-	pfam_AKAP95		0.313	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	C	NM_181781		90487841	1	no_errors	ENST00000340281	ensembl	human	known	70_37	silent	SNP	0.996	G	G	90487841	C	G	90487841	2	3	153	1	0	0	0	0	0	0	0	1	17876	900	32	1		1	ZNF326	1	90487841	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1011066	90487841	158762780	45	26019										
BTBD8	284697	genome.wustl.edu	37	chr1	92554440	92554440	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgttgaagctttagaatttaGaacgtttttacagtaagtgc	9	4	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:92554440G>C	ENST00000342818.3	+	2	571	c.335G>C	c.(334-336)aGa>aCa	p.R112T	BTBD8_ENST00000540648.1_Missense_Mutation_p.R112T|BTBD8_ENST00000370382.3_Missense_Mutation_p.R112T	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	112	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTAGAATTTAGAACGTTTTTA	0.279																																																	0													88	83	84					1																	92554440		2202	4300	6502	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.335G>C	1.37:g.92554440G>C	ENSP00000343686:p.Arg112Thr		Q6V9S5	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R112T	ENST00000342818.3	37	c.335	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	G	8.789	0.930068	0.18131	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.68331	-0.32;-0.32;-0.32	5.31	2.39	0.29439	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.295824	0.28821	N	0.014027	T	0.38214	0.1032	M	0.72624	2.21	0.28363	N	0.920354	B	0.15141	0.012	B	0.18871	0.023	T	0.30563	-0.9974	10	0.15499	T	0.54	-1.9807	7.4248	0.27092	0.4365:0.0:0.5635:0.0	.	112	Q5XKL5	BTBD8_HUMAN	T	112	ENSP00000359408:R112T;ENSP00000343686:R112T;ENSP00000443397:R112T	ENSP00000343686:R112T	R	+	2	0	BTBD8	92327028	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	2.114000	0.41911	0.315000	0.23110	0.591000	0.81541	AGA	BTBD8	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.279	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	HGNC	protein_coding	OTTHUMT00000028372.1	G	NM_183242		92554440	1	no_errors	ENST00000342818	ensembl	human	known	70_37	missense	SNP	0.999	C	C	92554440	G	C	92554440	3	2	153	1	0	0	0	0	1	0	0	0	1550	942	33	1	341	1	BTBD8	1	92554440	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2066599	92554440	156696181	46	26020										
RPAP2	79871	genome.wustl.edu	37	chr1	92789379	92789379	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtaaatactcagagttcttCaaatagcactttgcctgaaa	6	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:92789379C>A	ENST00000610020.1	+	8	1011	c.902C>A	c.(901-903)tCa>tAa	p.S301*	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	301					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGAGTTCTTCAAATAGCACT	0.363																																																	0													74	81	78					1																	92789379		2203	4299	6502	SO:0001587	stop_gained	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.902C>A	1.37:g.92789379C>A	ENSP00000476948:p.Ser301*		C9JKB5|Q49AS7|Q9H8Y2	Nonsense_Mutation	SNP	pfam_DUF408	p.S301*	ENST00000610020.1	37	c.902	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353074	0.24512	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	3.2	0.36748	.	0.785613	0.12496	N	0.463772	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5981	9.5299	0.39187	0.0:0.727:0.0:0.273	.	.	.	.	X	301	.	ENSP00000359368:S301X	S	+	2	0	RPAP2	92561967	0.210000	0.23517	0.955000	0.39395	0.041000	0.13682	0.859000	0.27858	0.907000	0.36646	-0.140000	0.14226	TCA	RPAP2	-	NULL		0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	C	NM_024813		92789379	1	no_errors	ENST00000370343	ensembl	human	known	70_37	nonsense	SNP	0.035	A	A	92789379	C	A	92789379	4	1	153	1	0	0	0	0	0	1	0	0	13572	838	29	3	932	3	RPAP2	1	92789379	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	234939	92789379	156461242	47	26021										
ABCA4	24	genome.wustl.edu	37	chr1	94463474	94463474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgagcaggctgtccttgtgGgagaggaggagctggaagat	18	5	0	3	rs538551610		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:94463474G>A	ENST00000370225.3	-	48	6758	c.6672C>T	c.(6670-6672)tcC>tcT	p.S2224S	ABCA4_ENST00000535881.1_Silent_p.S343S|ABCA4_ENST00000536513.1_Silent_p.S494S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2224					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTCCTTGTGGGAGAGGAGGA	0.597													G|||	1	0.000199681	0	0	5008	,	,		19168	0		0.001	False		,,,				2504	0																0													138	102	114					1																	94463474		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6672C>T	1.37:g.94463474G>A			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.S2224	ENST00000370225.3	37	c.6672	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt		0.597	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	G	NM_000350		94463474	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	silent	SNP	1.000	A	A	94463474	G	A	94463474	2	1	153	1	0	0	0	0	0	0	0	1	34	1219	43	4		4	ABCA4	1	94463474	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1674095	94463474	154787147	48	26022										
CNN3	1266	genome.wustl.edu	37	chr1	95363403	95363403	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctgataatcactatcactGatttccgaaccatttgttcc	5	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:95363403G>A	ENST00000370206.4	-	7	1268	c.885C>T	c.(883-885)atC>atT	p.I295I	CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_Silent_p.I254I|CNN3_ENST00000538964.1_Silent_p.I295I|CNN3_ENST00000394202.4_Silent_p.I249I	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	295	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CACTATCACTGATTTCCGAAC	0.463																																																	0													299	258	272					1																	95363403		2203	4300	6503	SO:0001819	synonymous_variant	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.885C>T	1.37:g.95363403G>A			B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.I295	ENST00000370206.4	37	c.885	CCDS30775.1	1																																																																																			CNN3	-	NULL		0.463	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2	G	NM_001839		95363403	-1	no_errors	ENST00000370206	ensembl	human	known	70_37	silent	SNP	1.000	A	A	95363403	G	A	95363403	2	1	153	1	0	0	0	0	0	0	0	1	3616	1280	45	1		1	CNN3	1	95363403	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	899929	95363403	153887218	49	26023										
CDC14A	8556	genome.wustl.edu	37	chr1	100933537	100933537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttggaagaacagggacattGatagcctgttatgtaatgaa	11	5	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:100933537G>T	ENST00000336454.3	+	10	1219	c.864G>T	c.(862-864)ttG>ttT	p.L288F	CDC14A_ENST00000370124.3_Missense_Mutation_p.L288F|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000361544.6_Missense_Mutation_p.L288F|CDC14A_ENST00000542213.1_Missense_Mutation_p.L230F|CDC14A_ENST00000544534.1_Missense_Mutation_p.L288F|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	288	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CAGGGACATTGATAGCCTGTT	0.388																																																	0													140	139	140					1																	100933537		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.864G>T	1.37:g.100933537G>T	ENSP00000336739:p.Leu288Phe		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L288F	ENST00000336454.3	37	c.864	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377981	0.61735	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.02	4.1	0.47936	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.069354	0.64402	D	0.000016	T	0.43188	0.1236	L	0.58669	1.825	0.80722	D	1	P;D;D;D;D	0.89917	0.952;1.0;0.999;0.998;1.0	P;D;D;D;D	0.87578	0.698;0.987;0.987;0.978;0.998	T	0.42120	-0.9470	10	0.87932	D	0	-4.4718	8.6377	0.33959	0.0808:0.1536:0.7656:0.0	.	230;288;288;288;288	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	F	230;288;288;288;288	ENSP00000442640:L230F;ENSP00000354916:L288F;ENSP00000359142:L288F;ENSP00000336739:L288F;ENSP00000442543:L288F	ENSP00000336739:L288F	L	+	3	2	CDC14A	100706125	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	2.234000	0.43035	2.333000	0.79357	0.591000	0.81541	TTG	CDC14A	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.388	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	G	NM_033312		100933537	1	no_errors	ENST00000361544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100933537	G	T	100933537	3	4	153	1	0	0	0	0	1	0	0	0	3061	1281	45	3	902	3	CDC14A	1	100933537	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5570134	100933537	148317084	50	26024										
OLFM3	118427	genome.wustl.edu	37	chr1	102290715	102290715	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agattccttatttcctccttGaactgggtgattaacttagc	7	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:102290715G>C	ENST00000338858.5	-	4	518	c.519C>G	c.(517-519)ttC>ttG	p.F173L	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.F173L|OLFM3_ENST00000370103.4_Missense_Mutation_p.F153L|OLFM3_ENST00000536598.1_Missense_Mutation_p.F78L			Q96PB7	NOE3_HUMAN	olfactomedin 3	173					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTTCCTCCTTGAACTGGGTGA	0.468																																																	0													134	122	126					1																	102290715		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.519C>G	1.37:g.102290715G>C	ENSP00000345192:p.Phe173Leu		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.F173L	ENST00000338858.5	37	c.519		1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774484	0.49786	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.85773	-1.99;-2.03;-0.5;0.61	5.91	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	L	0.39898	1.24	0.41089	D	0.985587	B;P	0.52842	0.011;0.956	B;P	0.62184	0.013;0.899	T	0.77289	-0.2643	10	0.02654	T	1	.	10.1708	0.42908	0.2034:0.0:0.7966:0.0	.	153;173	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	24;153;173;78;173	ENSP00000359121:F153L;ENSP00000345192:F173L;ENSP00000443471:F78L;ENSP00000352867:F173L	ENSP00000345192:F173L	F	-	3	2	OLFM3	102063303	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.991000	0.40727	0.856000	0.35383	-0.137000	0.14449	TTC	OLFM3	-	superfamily_Quino_amine_DH_bsu		0.468	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	G			102290715	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102290715	G	C	102290715	3	2	153	1	0	0	0	0	1	0	0	0	10878	1281	45	1	929	1	OLFM3	1	102290715	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1357178	102290715	146959906	51	26025										
STXBP3	6814	genome.wustl.edu	37	chr1	109350080	109350080	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgaaaaaatgggtcaaagctGattgtttttgtaattggagg	12	3	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:109350080G>A	ENST00000370008.3	+	18	1643	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	531					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGTCAAAGCTGATTGTTTTTG	0.333																																																	0													106	108	107					1																	109350080		2203	4300	6503	SO:0001819	synonymous_variant	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1593G>A	1.37:g.109350080G>A			A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L531	ENST00000370008.3	37	c.1593	CCDS790.1	1																																																																																			STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like		0.333	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	G	NM_007269		109350080	1	no_errors	ENST00000370008	ensembl	human	known	70_37	silent	SNP	1.000	A	A	109350080	G	A	109350080	2	1	153	1	0	0	0	0	0	0	0	1	15384	1277	45	1		1	STXBP3	1	109350080	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7059365	109350080	139900541	52	26026										
GPSM2	29899	genome.wustl.edu	37	chr1	109444509	109444509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atactttacttcaagactatGaaaaggccattgattatcat	5	7	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:109444509G>A	ENST00000406462.2	+	9	1668	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.E299K			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	299					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAAGACTATGAAAAGGCCAT	0.373																																																	0													85	81	82					1																	109444509		2203	4300	6503	SO:0001583	missense	29899			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.895G>A	1.37:g.109444509G>A	ENSP00000385510:p.Glu299Lys		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E299K	ENST00000406462.2	37	c.895	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335734	0.60853	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	T;T	0.79033	-1.23;-1.23	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.094732	0.64402	D	0.000001	T	0.62950	0.2470	L	0.38838	1.175	0.51012	D	0.9999	B	0.12013	0.005	B	0.21151	0.033	T	0.57112	-0.7867	10	0.32370	T	0.25	-27.2364	20.2723	0.98479	0.0:0.0:1.0:0.0	.	299	P81274	GPSM2_HUMAN	K	299	ENSP00000385510:E299K;ENSP00000264126:E299K	ENSP00000264126:E299K	E	+	1	0	GPSM2	109246032	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.876000	0.87215	2.793000	0.96121	0.563000	0.77884	GAA	GPSM2	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.373	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	G	NM_013296		109444509	1	no_errors	ENST00000264126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109444509	G	A	109444509	3	1	153	1	0	0	0	0	1	0	0	0	6755	1291	45	1	921	1	GPSM2	1	109444509	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	94429	109444509	139806112	53	26027										
CELSR2	1952	genome.wustl.edu	37	chr1	109793090	109793090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccccacagggcaagctcaCactgcccgaggagcacccgt	10	17	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:109793090C>T	ENST00000271332.3	+	1	450	c.389C>T	c.(388-390)aCa>aTa	p.T130I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	130					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCAAGCTCACACTGCCCGAG	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)												0													59	63	62					1																	109793090		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.389C>T	1.37:g.109793090C>T	ENSP00000271332:p.Thr130Ile		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T130I	ENST00000271332.3	37	c.389	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	11.67	1.709012	0.30322	.	.	ENSG00000143126	ENST00000271332	T	0.68765	-0.35	5.49	4.58	0.56647	.	.	.	.	.	T	0.21718	0.0523	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14868	-1.0457	9	0.15952	T	0.53	.	9.3872	0.38349	0.0:0.7793:0.1445:0.0762	.	130	Q9HCU4	CELR2_HUMAN	I	130	ENSP00000271332:T130I	ENSP00000271332:T130I	T	+	2	0	CELSR2	109594613	0.001000	0.12720	0.988000	0.46212	0.661000	0.39034	1.590000	0.36654	1.332000	0.45431	0.555000	0.69702	ACA	CELSR2	-	NULL		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109793090	1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.183	T	T	109793090	C	T	109793090	3	4	153	1	0	0	0	0	1	0	0	0	3227	478	17	4	391	4	CELSR2	1	109793090	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	348581	109793090	139457531	54	26028										
KCND3	3752	genome.wustl.edu	37	chr1	112525016	112525016	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctcgtcgtcgtaggcagaGatgcactcgtagcgcgggta	15	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:112525016G>A	ENST00000315987.2	-	2	812	c.333C>T	c.(331-333)atC>atT	p.I111I	KCND3_ENST00000369697.1_Silent_p.I111I|KCND3_ENST00000302127.4_Silent_p.I111I	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	111					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGTAGGCAGAGATGCACTCGT	0.617																																																	0													106	93	97					1																	112525016		2203	4300	6503	SO:0001819	synonymous_variant	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.333C>T	1.37:g.112525016G>A			O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.I111	ENST00000315987.2	37	c.333	CCDS843.1	1																																																																																			KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3		0.617	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	G	NM_172198		112525016	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	silent	SNP	1.000	A	A	112525016	G	A	112525016	2	1	153	1	0	0	0	0	0	0	0	1	8040	932	33	1		1	KCND3	1	112525016	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2731926	112525016	136725605	55	26029										
HSD3B2	3284	genome.wustl.edu	37	chr1	119964793	119964793	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctctacagtcaacccagtCtatgttggcaacgtggcctg	9	12	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:119964793C>G	ENST00000543831.1	+	4	918	c.669C>G	c.(667-669)gtC>gtG	p.V223V	HSD3B2_ENST00000369416.3_Silent_p.V223V	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	223					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCAACCCAGTCTATGTTGGCA	0.527																																																	0													62	63	63					1																	119964793		2203	4300	6503	SO:0001819	synonymous_variant	3284			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.669C>G	1.37:g.119964793C>G			A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.V223	ENST00000543831.1	37	c.669	CCDS902.1	1																																																																																			HSD3B2	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct		0.527	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	C	NM_000198		119964793	1	no_errors	ENST00000369416	ensembl	human	known	70_37	silent	SNP	0.735	G	G	119964793	C	G	119964793	2	3	153	1	0	0	0	0	0	0	0	1	7411	900	32	1		1	HSD3B2	1	119964793	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7439777	119964793	129285828	56	26030										
ZNF697	90874	genome.wustl.edu	37	chr1	120165604	120165604	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccggtgtgcacgcgcaggtgGttcaccaggtgcgagttacg	16	11	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:120165604G>C	ENST00000421812.2	-	3	1481	c.1362C>G	c.(1360-1362)aaC>aaG	p.N454K		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGCGCAGGTGGTTCACCAGGT	0.672																																																	0													22	25	24					1																	120165604		2198	4298	6496	SO:0001583	missense	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1362C>G	1.37:g.120165604G>C	ENSP00000396857:p.Asn454Lys		Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N454K	ENST00000421812.2	37	c.1362	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	0.773	-0.764954	0.02996	.	.	ENSG00000143067	ENST00000421812	T	0.15017	2.46	5.08	2.08	0.27032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.387744	0.18893	N	0.128253	T	0.01661	0.0053	N	0.02539	-0.55	0.35289	D	0.782	B	0.23377	0.084	B	0.29176	0.099	T	0.42447	-0.9451	10	0.08837	T	0.75	-19.0733	6.922	0.24393	0.0812:0.0:0.4789:0.4399	.	454	Q5TEC3	ZN697_HUMAN	K	454	ENSP00000396857:N454K	ENSP00000396857:N454K	N	-	3	2	ZNF697	119967127	0.012000	0.17670	0.996000	0.52242	0.006000	0.05464	0.480000	0.22244	0.238000	0.21222	-0.311000	0.09066	AAC	ZNF697	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	G	XM_371286		120165604	-1	no_errors	ENST00000421812	ensembl	human	known	70_37	missense	SNP	0.990	C	C	120165604	G	C	120165604	3	2	153	1	0	0	0	0	1	0	0	0	18130	1252	44	4	279	4	ZNF697	1	120165604	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	200811	120165604	129085017	57	26031										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144859829	144859829	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggttaatggaggaggggctGaggctggctttgccagcacc	17	8	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:144859829G>A	ENST00000369354.3	-	38	6444	c.6255C>T	c.(6253-6255)ctC>ctT	p.L2085L	PDE4DIP_ENST00000530740.1_Silent_p.L2170L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.L2085L|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Silent_p.L1979L|PDE4DIP_ENST00000369359.4_Silent_p.L2221L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2085					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGAGGGGCTGAGGCTGGCTT	0.572			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													63	61	62					1																	144859829		2203	4300	6503	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6255C>T	1.37:g.144859829G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L2085	ENST00000369354.3	37	c.6255	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144859829	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.000	A	A	144859829	G	A	144859829	2	1	153	1	0	0	0	0	0	0	0	1	11667	1277	45	1		1	PDE4DIP	1	144859829	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	24694225	144859829	104390792	58	26032										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144915534	144915534	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgtttatttcgatcacttaGaaggtcctgcagcatccttt	7	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:144915534G>T	ENST00000369354.3	-	14	2080	c.1891C>A	c.(1891-1893)Cta>Ata	p.L631I	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L794I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L768I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L631I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L418I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L794I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L631I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L631I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L697I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L768I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	631					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGATCACTTAGAAGGTCCTGC	0.493			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													286	257	267					1																	144915534		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1891C>A	1.37:g.144915534G>T	ENSP00000358360:p.Leu631Ile		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L631I	ENST00000369354.3	37	c.1891	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620904	0.87460	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.71698	4.16;4.22;4.23;4.27;4.25;3.16;3.17;2.06;2.07;-0.59	5.2	5.2	0.72013	.	.	.	.	.	T	0.79452	0.4448	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.998;0.998;0.999;0.999;0.998	D;D;D;D;D;D	0.83275	0.946;0.981;0.996;0.987;0.994;0.996	T	0.78617	-0.2134	9	0.45353	T	0.12	.	16.6602	0.85238	0.0:0.0:1.0:0.0	.	794;418;631;794;697;631	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	I	697;631;631;794;768;768;631;631;794;794;418	ENSP00000327209:L697I;ENSP00000358360:L631I;ENSP00000358363:L631I;ENSP00000435654:L768I;ENSP00000358366:L768I;ENSP00000358357:L631I;ENSP00000358355:L631I;ENSP00000316434:L794I;ENSP00000433392:L794I;ENSP00000436791:L418I	ENSP00000327209:L697I	L	-	1	2	PDE4DIP	143626891	1.000000	0.71417	0.849000	0.33467	0.992000	0.81027	5.205000	0.65186	2.611000	0.88343	0.650000	0.86243	CTA	PDE4DIP	-	superfamily_ARM-type_fold		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144915534	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.992	T	T	144915534	G	T	144915534	3	4	153	1	0	0	0	0	1	0	0	0	11667	933	33	3	5283	3	PDE4DIP	1	144915534	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	55705	144915534	104335087	59	26033										
GJA8	2703	genome.wustl.edu	37	chr1	147381160	147381160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagagaggctgaccacggagGagcaggagaaggtggccgtg	19	8	0	3	rs145727273		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:147381160G>A	ENST00000369235.1	+	1	1078	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GJA8_ENST00000240986.4_Missense_Mutation_p.E360K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	360					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCACGGAGGAGCAGGAGAA	0.622																																					Melanoma(76;1255 1795 8195 52096)												0								G	LYS/GLU	0,4398		0,0,2199	46	45	46		1078	5.1	0	1	dbSNP_134	46	1,8589		0,1,4294	no	missense	GJA8	NM_005267.4	56	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign	360/434	147381160	1,12987	2199	4295	6494	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1078G>A	1.37:g.147381160G>A	ENSP00000358238:p.Glu360Lys		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.E360K	ENST00000369235.1	37	c.1078	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	0.305	-0.971288	0.02232	0.0	1.16E-4	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97480	-4.4;-4.4	5.09	5.09	0.68999	.	2.052490	0.02407	N	0.081303	D	0.89808	0.6822	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.76024	-0.3110	10	0.06365	T	0.9	.	15.5018	0.75705	0.0:0.0:1.0:0.0	.	360	P48165	CXA8_HUMAN	K	360	ENSP00000240986:E360K;ENSP00000358238:E360K	ENSP00000240986:E360K	E	+	1	0	GJA8	145847784	0.033000	0.19621	0.008000	0.14137	0.010000	0.07245	2.279000	0.43435	2.628000	0.89032	0.655000	0.94253	GAG	GJA8	-	NULL		0.622	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	G	NM_005267		147381160	1	no_errors	ENST00000240986	ensembl	human	known	70_37	missense	SNP	0.078	A	A	147381160	G	A	147381160	3	1	153	1	0	0	0	0	1	0	0	0	6424	1175	41	1	1080	1	GJA8	1	147381160	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2465626	147381160	101869461	60	26034										
PPIAL4A	164022	genome.wustl.edu	37	chr1	147955334	147955334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgatgtcaaaaaagacgacgGagttgaccatggctgatagt	12	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:147955334G>A	ENST00000539781.1	-	1	85	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_178230.1	NP_839944.1	Q9Y536	PAL4A_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4A	4					protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)	1						AAAGACGACGGAGTTGACCAT	0.463																																																	0																																										SO:0001583	missense	653505			AB084917		1q21.1	2012-10-03	2008-09-16	2008-09-16	ENSG00000255963				24369	protein-coding gene	gene with protein product			"peptidylprolyl isomerase A (cyclophilin A)-like 4"	PPIAL4		11948409	Standard			Approved	COAS2		Q9Y536	OTTHUMG00000013920	ENST00000539781.1:c.11C>T	1.37:g.147955334G>A	ENSP00000439146:p.Ser4Phe			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S4F	ENST00000539781.1	37	c.11	CCDS30835.1	1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259630	0.23051	.	.	ENSG00000255963	ENST00000539781	T	0.46451	0.87	0.109	0.109	0.14578	.	0.219744	0.38663	U	0.001606	T	0.22551	0.0544	.	.	.	0.26630	N	0.972485	.	.	.	.	.	.	T	0.14227	-1.0480	7	0.87932	D	0	.	5.9913	0.19465	6.0E-4:0.0:0.9994:0.0	.	.	.	.	F	4	ENSP00000439146:S4F	ENSP00000439146:S4F	S	-	2	0	PPIAL4A	146421958	0.969000	0.33509	0.001000	0.08648	0.001000	0.01503	1.707000	0.37888	0.181000	0.19994	0.184000	0.17185	TCC	PPIAL4A	-	superfamily_Cyclophilin-like_PPIase_dom		0.463	PPIAL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4A	HGNC	protein_coding	OTTHUMT00000039085.2	G	NM_178230		147955334	-1	no_errors	ENST00000539781	ensembl	human	known	70_37	missense	SNP	0.996	A	A	147955334	G	A	147955334	3	1	153	1	0	0	0	0	1	0	0	0	12341	1174	41	1	986	1	PPIAL4A	1	147955334	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	574174	147955334	101295287	61	26035										
HIST2H2AC	8338	genome.wustl.edu	37	chr1	149858613	149858613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctccagttcccggtagggcGagtgcaccgcttgctgcgca	13	15	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:149858613G>C	ENST00000331380.2	+	1	89	c.89G>C	c.(88-90)cGa>cCa	p.R30P	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGGTAGGGCGAGTGCACCGC	0.672																																																	0													60	67	64					1																	149858613		2202	4298	6500	SO:0001583	missense	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.89G>C	1.37:g.149858613G>C	ENSP00000332194:p.Arg30Pro		Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30P	ENST00000331380.2	37	c.89	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694144	0.68386	.	.	ENSG00000184260	ENST00000331380	D	0.85339	-1.97	5.81	5.81	0.92471	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.42964	D	0.000638	D	0.96815	0.8960	H	0.99948	5.02	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	30	Q16777	H2A2C_HUMAN	P	30	ENSP00000332194:R30P	ENSP00000332194:R30P	R	+	2	0	HIST2H2AC	148125237	1.000000	0.71417	0.081000	0.20488	0.963000	0.63663	7.466000	0.80914	2.745000	0.94114	0.655000	0.94253	CGA	HIST2H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	G	NM_003517		149858613	1	no_errors	ENST00000331380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149858613	G	C	149858613	3	2	153	1	0	0	0	0	1	0	0	0	7198	1058	37	1	91	1	HIST2H2AC	1	149858613	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1903279	149858613	99392008	62	26036										
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150529705	150529705	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accctccagcgtcaggtgcgGatcccccagatgcccgcccc	10	20	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:150529705G>C	ENST00000369038.2	+	10	2142	c.1941G>C	c.(1939-1941)cgG>cgC	p.R647R	ADAMTSL4_ENST00000271643.4_Silent_p.R647R|ADAMTSL4_ENST00000369041.5_Silent_p.R647R|ADAMTSL4_ENST00000369039.5_Silent_p.R670R|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	647	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCAGGTGCGGATCCCCCAGA	0.692																																																	0													16	19	18					1																	150529705		2200	4298	6498	SO:0001819	synonymous_variant	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1941G>C	1.37:g.150529705G>C			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.R670	ENST00000369038.2	37	c.2010	CCDS955.1	1																																																																																			ADAMTSL4	-	NULL		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	G	NM_019032		150529705	1	no_errors	ENST00000369039	ensembl	human	known	70_37	silent	SNP	1.000	C	C	150529705	G	C	150529705	2	2	153	1	0	0	0	0	0	0	0	1	277	1161	41	1		1	ADAMTSL4	1	150529705	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	671092	150529705	98720916	63	26037										
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150530005	150530005	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttcctctgcatctcccgtGagtcgggagaggaactggat	12	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:150530005G>C	ENST00000369038.2	+	11	2284	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.E695Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E695Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E718Q|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	695					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATCTCCCGTGAGTCGGGAGA	0.652																																																	0													21	22	21					1																	150530005		2203	4300	6503	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2083G>C	1.37:g.150530005G>C	ENSP00000358034:p.Glu695Gln		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.E718Q	ENST00000369038.2	37	c.2152	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928189	0.73327	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.72	4.75	0.60458	.	.	.	.	.	T	0.28134	0.0694	N	0.16602	0.42	0.35988	D	0.836462	P;P;P;D	0.53462	0.856;0.731;0.856;0.96	B;B;B;P	0.46585	0.424;0.395;0.424;0.521	T	0.02805	-1.1108	9	0.12103	T	0.63	.	11.9346	0.52866	0.0:0.1746:0.8254:0.0	.	656;718;695;695	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	695;695;233;718;695	ENSP00000358037:E695Q;ENSP00000271643:E695Q;ENSP00000358035:E718Q;ENSP00000358034:E695Q	ENSP00000271643:E695Q	E	+	1	0	ADAMTSL4	148796629	0.990000	0.36364	0.997000	0.53966	0.985000	0.73830	2.208000	0.42797	2.728000	0.93425	0.650000	0.86243	GAG	ADAMTSL4	-	superfamily_Thrombospondin_1_rpt		0.652	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	G	NM_019032		150530005	1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.999	C	C	150530005	G	C	150530005	3	2	153	1	0	0	0	0	1	0	0	0	277	1291	45	1	2125	1	ADAMTSL4	1	150530005	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	300	150530005	98720616	64	26038										
PRUNE	58497	genome.wustl.edu	37	chr1	151001297	151001297	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctaacctccttgcagatctCcatgctttctgccaggctca	6	15	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:151001297C>G	ENST00000271620.3	+	7	966	c.810C>G	c.(808-810)ctC>ctG	p.L270L	PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000368936.1_Silent_p.L88L|PRUNE_ENST00000368935.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	270						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGCAGATCTCCATGCTTTCT	0.473																																																	0													174	149	157					1																	151001297		2203	4300	6503	SO:0001819	synonymous_variant	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.810C>G	1.37:g.151001297C>G			B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Silent	SNP	pfam_DHHA2,pfam_Pesterase_RecJ	p.L270	ENST00000271620.3	37	c.810	CCDS977.1	1																																																																																			PRUNE	-	pfam_DHHA2		0.473	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	C	NM_021222		151001297	1	no_errors	ENST00000271620	ensembl	human	known	70_37	silent	SNP	0.091	G	G	151001297	C	G	151001297	2	3	153	1	0	0	0	0	0	0	0	1	12667	842	30	1		1	PRUNE	1	151001297	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	471292	151001297	98249324	65	26039										
RFX5	5993	genome.wustl.edu	37	chr1	151317606	151317606	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtctccagtggtgggtcctGaggggagctgaaggtagaga	18	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:151317606G>A	ENST00000290524.4	-	5	387	c.209C>T	c.(208-210)tCa>tTa	p.S70L	RFX5_ENST00000368870.2_Missense_Mutation_p.S70L|RFX5_ENST00000452671.2_Missense_Mutation_p.S70L|RFX5_ENST00000452513.2_Missense_Mutation_p.S70L|RFX5_ENST00000478564.1_5'UTR|RP11-126K1.6_ENST00000455503.1_RNA	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	70	N-terminal domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGGTCCTGAGGGGAGCTG	0.453																																																	0													89	87	87					1																	151317606		2203	4300	6503	SO:0001583	missense	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.209C>T	1.37:g.151317606G>A	ENSP00000290524:p.Ser70Leu		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S70L	ENST00000290524.4	37	c.209	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576177	0.86645	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484;ENST00000430227;ENST00000412774;ENST00000437327;ENST00000436271	T;T;T;T;T;T;D;D	0.83755	0.09;0.09;0.09;0.11;0.09;-0.77;-1.76;-1.76	5.23	5.23	0.72850	.	0.148106	0.47852	D	0.000218	D	0.83478	0.5263	L	0.61218	1.895	0.51233	D	0.999916	P;P	0.51147	0.942;0.819	P;B	0.52159	0.691;0.322	D	0.85249	0.1043	10	0.66056	D	0.02	-3.5179	15.6438	0.77033	0.0:0.0:1.0:0.0	.	70;70	B7Z848;P48382	.;RFX5_HUMAN	L	70	ENSP00000290524:S70L;ENSP00000357864:S70L;ENSP00000389130:S70L;ENSP00000398388:S70L;ENSP00000376502:S70L;ENSP00000399095:S70L;ENSP00000398666:S70L;ENSP00000409187:S70L	ENSP00000290524:S70L	S	-	2	0	RFX5	149584230	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	8.682000	0.91232	2.720000	0.93068	0.591000	0.81541	TCA	RFX5	-	NULL		0.453	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	G	NM_000449		151317606	-1	no_errors	ENST00000290524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151317606	G	A	151317606	3	1	153	1	0	0	0	0	1	0	0	0	13296	1294	45	1	1669	1	RFX5	1	151317606	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	316309	151317606	97933015	66	26040										
LINGO4	339398	genome.wustl.edu	37	chr1	151775027	151775027	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagtcctccaggtacagcctCcagttgcctgtggccacaga	11	14	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:151775027C>G	ENST00000368820.3	-	2	1091	c.154G>C	c.(154-156)Gag>Cag	p.E52Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	52	LRRNT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTACAGCCTCCAGTTGCCTG	0.652																																																	0													35	24	28					1																	151775027		2201	4297	6498	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.154G>C	1.37:g.151775027C>G	ENSP00000357810:p.Glu52Gln			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E52Q	ENST00000368820.3	37	c.154	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653025	0.29336	.	.	ENSG00000213171	ENST00000368820	T	0.79653	-1.29	5.41	5.41	0.78517	Leucine-rich repeat-containing N-terminal (1);	0.410013	0.20799	N	0.085477	T	0.49575	0.1565	N	0.08118	0	0.27489	N	0.952338	P	0.44776	0.843	P	0.45232	0.474	T	0.42649	-0.9439	10	0.17832	T	0.49	.	10.0064	0.41959	0.0:0.911:0.0:0.089	.	52	Q6UY18	LIGO4_HUMAN	Q	52	ENSP00000357810:E52Q	ENSP00000357810:E52Q	E	-	1	0	LINGO4	150041651	0.626000	0.27120	1.000000	0.80357	0.978000	0.69477	1.517000	0.35867	2.822000	0.97130	0.557000	0.71058	GAG	LINGO4	-	smart_LRR-contain_N		0.652	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	C	XM_291387		151775027	-1	no_errors	ENST00000368820	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151775027	C	G	151775027	3	3	153	1	0	0	0	0	1	0	0	0	8838	864	30	1	1631	1	LINGO4	1	151775027	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	457421	151775027	97475594	67	26041										
TCHH	7062	genome.wustl.edu	37	chr1	152081930	152081930	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgtcgcgcagctgggaatCttccaactgccggaactgtt	11	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152081930C>G	ENST00000368804.1	-	2	3762	c.3763G>C	c.(3763-3765)Gat>Cat	p.D1255H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1255					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGGAATCTTCCAACTGC	0.512																																																	0													83	83	83					1																	152081930		2017	4178	6195	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3763G>C	1.37:g.152081930C>G	ENSP00000357794:p.Asp1255His		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.D1255H	ENST00000368804.1	37	c.3763	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188115	0.38609	.	.	ENSG00000159450	ENST00000368804	T	0.17528	2.27	4.07	0.535	0.17133	.	.	.	.	.	T	0.06962	0.0177	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.19976	-1.0289	9	0.62326	D	0.03	.	1.0704	0.01620	0.1794:0.4281:0.1753:0.2172	.	1255	Q07283	TRHY_HUMAN	H	1255	ENSP00000357794:D1255H	ENSP00000357794:D1255H	D	-	1	0	TCHH	150348554	0.000000	0.05858	0.023000	0.16930	0.646000	0.38490	0.039000	0.13884	0.715000	0.32103	0.563000	0.77884	GAT	TCHH	-	NULL		0.512	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152081930	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.001	G	G	152081930	C	G	152081930	3	3	153	1	0	0	0	0	1	0	0	0	15730	913	32	1	2072	1	TCHH	1	152081930	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	306903	152081930	97168691	68	26042										
TCHH	7062	genome.wustl.edu	37	chr1	152085374	152085374	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgatcttgtaacaggctctCctttccgtcacaccgggctc	9	15	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152085374C>G	ENST00000368804.1	-	2	318	c.319G>C	c.(319-321)Gag>Cag	p.E107Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	107					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACAGGCTCTCCTTTCCGTCA	0.532																																																	0													156	150	152					1																	152085374		1941	4146	6087	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.319G>C	1.37:g.152085374C>G	ENSP00000357794:p.Glu107Gln		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E107Q	ENST00000368804.1	37	c.319	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	2.172	-0.389754	0.04932	.	.	ENSG00000159450	ENST00000368804	T	0.05258	3.47	5.01	-0.432	0.12291	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.28849	0.095	T	0.47749	-0.9093	9	0.20046	T	0.44	-25.9879	7.8844	0.29642	0.0:0.3822:0.0:0.6178	.	107	Q07283	TRHY_HUMAN	Q	107	ENSP00000357794:E107Q	ENSP00000357794:E107Q	E	-	1	0	TCHH	150351998	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	-0.320000	0.08028	0.036000	0.15547	0.552000	0.68991	GAG	TCHH	-	NULL		0.532	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152085374	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.317	G	G	152085374	C	G	152085374	3	3	153	1	0	0	0	0	1	0	0	0	15730	864	30	1	5516	1	TCHH	1	152085374	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3444	152085374	97165247	69	26043										
FLG	2312	genome.wustl.edu	37	chr1	152284387	152284387	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagagtgcccgtgaccggctCtgtcttcgtgatgggacctg	14	12	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152284387C>T	ENST00000368799.1	-	3	3010	c.2975G>A	c.(2974-2976)aGa>aAa	p.R992K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	992	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCGGCTCTGTCTTCGTG	0.577									Ichthyosis																																								0													237	240	239					1																	152284387		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2975G>A	1.37:g.152284387C>T	ENSP00000357789:p.Arg992Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R992K	ENST00000368799.1	37	c.2975	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	4.574	0.106684	0.08780	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03920	3.76	0.698	-0.895	0.10560	.	.	.	.	.	T	0.01222	0.0040	M	0.68317	2.08	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.50250	-0.8850	8	0.06099	T	0.92	.	.	.	.	.	992	P20930	FILA_HUMAN	K	992;199	ENSP00000357789:R992K	ENSP00000357789:R992K	R	-	2	0	FLG	150551011	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.804000	0.04535	-0.258000	0.09446	0.291000	0.19559	AGA	FLG	-	NULL		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152284387	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.001	T	T	152284387	C	T	152284387	3	4	153	1	0	0	0	0	1	0	0	0	5940	913	32	1	9214	1	FLG	1	152284387	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	199013	152284387	96966234	70	26044										
LCE1A	353131	genome.wustl.edu	37	chr1	152800280	152800280	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcactctggaggctgctgctGaagcggactctgcacctaga	13	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152800280G>T	ENST00000335123.2	+	1	332	c.332G>T	c.(331-333)tGa>tTa	p.*111L		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	0					keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTGCTGCTGAAGCGGACTC	0.607																																																	0													14	17	16					1																	152800280		2188	4284	6472	SO:0001578	stop_lost	353131				CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.332G>T	1.37:g.152800280G>T	ENSP00000334869:p.*111Leuext*6			Nonstop_Mutation	SNP	NULL	p.*111L	ENST00000335123.2	37	c.332	CCDS1028.1	1	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193745	0.22037	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	.	.	.	4.02	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7529	0.28907	0.1181:0.0:0.8819:0.0	.	.	.	.	L	111	.	.	X	+	2	2	LCE1A	151066904	0.119000	0.22226	0.766000	0.31476	0.703000	0.40648	0.718000	0.25866	1.030000	0.39839	0.563000	0.77884	TGA	LCE1A	-	NULL		0.607	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1A	HGNC	protein_coding	OTTHUMT00000034660.2	G	NM_178348		152800280	1	no_errors	ENST00000335123	ensembl	human	known	70_37	nonstop	SNP	0.895	T	T	152800280	G	T	152800280	4	4	153	1	0	0	0	0	0	0	0	0	8679	1304	45	3	334	3	LCE1A	1	152800280	Nonstop_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	515893	152800280	96450341	71	26045										
JTB	10899	genome.wustl.edu	37	chr1	153949189	153949189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcccggaaattagagcatgGagagcactcttctgctacca	10	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:153949189G>A	ENST00000271843.4	-	3	619	c.184C>T	c.(184-186)Cca>Tca	p.P62S	JTB_ENST00000356648.1_Missense_Mutation_p.P33S|JTB_ENST00000368589.1_Missense_Mutation_p.P33S|RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000471173.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	62					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTAGAGCATGGAGAGCACTCT	0.423																																																	0													98	98	98					1																	153949189		2203	4300	6503	SO:0001583	missense	10899			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"prostate androgen-regulated gene"	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.184C>T	1.37:g.153949189G>A	ENSP00000271843:p.Pro62Ser		O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	pfam_JTB	p.P62S	ENST00000271843.4	37	c.184	CCDS1057.1	1	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569833	0.13560	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.49139	0.79	5.2	3.31	0.37934	.	0.298852	0.32719	N	0.005733	T	0.16854	0.0405	L	0.47016	1.485	0.20703	N	0.999869	B	0.16603	0.018	B	0.22152	0.038	T	0.20140	-1.0284	10	0.18710	T	0.47	-9.2873	7.0285	0.24954	0.0917:0.1748:0.7335:0.0	.	62	O76095	JTB_HUMAN	S	62;33;33;33	ENSP00000271843:P62S	ENSP00000271843:P62S	P	-	1	0	JTB	152215813	0.583000	0.26757	0.027000	0.17364	0.151000	0.21798	3.972000	0.56838	0.867000	0.35654	0.655000	0.94253	CCA	JTB	-	pfam_JTB		0.423	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JTB	HGNC	protein_coding	OTTHUMT00000088996.1	G	NM_006694		153949189	-1	no_errors	ENST00000271843	ensembl	human	known	70_37	missense	SNP	0.166	A	A	153949189	G	A	153949189	3	1	153	1	0	0	0	0	1	0	0	0	7987	1174	41	1	268	1	JTB	1	153949189	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1148909	153949189	95301432	72	26046										
NUP210L	91181	genome.wustl.edu	37	chr1	154098850	154098850	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attaccacaacaccatctttCagggcttttactatatggta	5	10	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154098850C>G	ENST00000368559.3	-	10	1346	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	NUP210L_ENST00000271854.3_Silent_p.L425L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	425					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CACCATCTTTCAGGGCTTTTA	0.388																																																	0													189	168	174					1																	154098850		1873	4105	5978	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1275G>C	1.37:g.154098850C>G			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L425	ENST00000368559.3	37	c.1275	CCDS41399.1	1																																																																																			NUP210L	-	NULL		0.388	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154098850	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	silent	SNP	0.987	G	G	154098850	C	G	154098850	2	3	153	1	0	0	0	0	0	0	0	1	10785	813	29	1		1	NUP210L	1	154098850	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	149661	154098850	95151771	73	26047										
ATP8B2	57198	genome.wustl.edu	37	chr1	154309881	154309881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccattggcaatgccatctggGagcacgaggtggggatgcgt	16	9	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154309881G>A	ENST00000368489.3	+	12	994	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E318K|ATP8B2_ENST00000368487.3_Missense_Mutation_p.E299K|RNU7-57P_ENST00000459540.1_RNA	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	318					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCCATCTGGGAGCACGAGGT	0.552																																																	0													290	243	259					1																	154309881		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.994G>A	1.37:g.154309881G>A	ENSP00000357475:p.Glu332Lys		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E332K	ENST00000368489.3	37	c.994	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735129	0.89482	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.88586	-2.4;-0.8;-0.8	5.17	5.17	0.71159	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.87402	0.6168	M	0.73319	2.225	0.80722	D	1	B;B;B	0.29481	0.087;0.245;0.077	B;B;B	0.36808	0.21;0.233;0.16	D	0.86955	0.2088	10	0.54805	T	0.06	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	318;332;299	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	K	299;332;318	ENSP00000357472:E299K;ENSP00000357475:E332K;ENSP00000340448:E318K	ENSP00000340448:E318K	E	+	1	0	ATP8B2	152576505	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.628000	0.83189	2.700000	0.92200	0.561000	0.74099	GAG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	G	NM_020452		154309881	1	no_errors	ENST00000368489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154309881	G	A	154309881	3	1	153	1	0	0	0	0	1	0	0	0	1196	1175	41	1	1040	1	ATP8B2	1	154309881	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	211031	154309881	94940740	74	26048										
IL6R	3570	genome.wustl.edu	37	chr1	154407108	154407108	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagctctttctacatagtgtCcatgtgcgtcgccagtagtg	10	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154407108C>G	ENST00000368485.3	+	4	1009	c.572C>G	c.(571-573)tCc>tGc	p.S191C	IL6R_ENST00000344086.4_Missense_Mutation_p.S191C	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	191	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TACATAGTGTCCATGTGCGTC	0.537																																																	0													111	115	114					1																	154407108		2203	4300	6503	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.572C>G	1.37:g.154407108C>G	ENSP00000357470:p.Ser191Cys		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S191C	ENST00000368485.3	37	c.572	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.976677|2.976677	0.53720|0.53720	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000476006|ENST00000368485;ENST00000344086	.|D;D	.|0.83673	.|-1.75;-1.75	4.83|4.83	2.96|2.96	0.34315|0.34315	.|Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|0.715669	.|0.11849	.|U	.|0.523535	T|T	0.73753|0.73753	0.3627|0.3627	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.62813	.|0.85;0.907	T|T	0.62296|0.62296	-0.6884|-0.6884	5|10	.|0.38643	.|T	.|0.18	-20.881|-20.881	6.6173|6.6173	0.22784|0.22784	0.0:0.7913:0.0:0.2087|0.0:0.7913:0.0:0.2087	.|.	.|191;191	.|P08887-2;P08887	.|.;IL6RA_HUMAN	A|C	114|191	.|ENSP00000357470:S191C;ENSP00000340589:S191C	.|ENSP00000340589:S191C	P|S	+|+	1|2	0|0	IL6R|IL6R	152673732|152673732	0.019000|0.019000	0.18553|0.18553	0.571000|0.571000	0.28486|0.28486	0.128000|0.128000	0.20619|0.20619	0.484000|0.484000	0.22308|0.22308	1.397000|1.397000	0.46682|0.46682	0.655000|0.655000	0.94253|0.94253	CCA|TCC	IL6R	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.537	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	C	NM_000565		154407108	1	no_errors	ENST00000368485	ensembl	human	known	70_37	missense	SNP	0.113	G	G	154407108	C	G	154407108	3	3	153	1	0	0	0	0	1	0	0	0	7722	855	30	1	586	1	IL6R	1	154407108	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	97227	154407108	94843513	75	26049										
TDRD10	126668	genome.wustl.edu	37	chr1	154516547	154516547	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgctggtgacgagtatcgtCccgaagaccccgtttttctg	11	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154516547C>T	ENST00000368480.3	+	9	697	c.612C>T	c.(610-612)gtC>gtT	p.V204V	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.V204V			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	204							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGAGTATCGTCCCGAAGACCC	0.622																																																	0													146	112	123					1																	154516547		2203	4300	6503	SO:0001819	synonymous_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.612C>T	1.37:g.154516547C>T			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V204	ENST00000368480.3	37	c.612	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor		0.622	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	C	NM_182499		154516547	1	no_errors	ENST00000368480	ensembl	human	known	70_37	silent	SNP	0.000	T	T	154516547	C	T	154516547	2	4	153	1	0	0	0	0	0	0	0	1	15761	842	30	1		1	TDRD10	1	154516547	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	109439	154516547	94734074	76	26050										
ASH1L	55870	genome.wustl.edu	37	chr1	155327445	155327445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gattttttgtgtgtggccatGggctggctgtttttgctgct	14	6	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155327445G>A	ENST00000368346.3	-	14	7545	c.6906C>T	c.(6904-6906)ccC>ccT	p.P2302P	ASH1L_ENST00000392403.3_Silent_p.P2297P|RNU6-106P_ENST00000384405.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2302					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTGTGGCCATGGGCTGGCTGT	0.438																																																	0													215	195	202					1																	155327445		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6906C>T	1.37:g.155327445G>A			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.P2302	ENST00000368346.3	37	c.6906		1																																																																																			ASH1L	-	superfamily_Bromodomain		0.438	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	G	NM_018489		155327445	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	silent	SNP	0.039	A	A	155327445	G	A	155327445	2	1	153	1	0	0	0	0	0	0	0	1	1042	1335	47	4		4	ASH1L	1	155327445	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	810898	155327445	93923176	77	26051										
GON4L	54856	genome.wustl.edu	37	chr1	155733122	155733122	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctggtggagttctgctggtCtccacttctggagcagtctc	12	12	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155733122C>T	ENST00000368331.1	-	22	4755	c.4707G>A	c.(4705-4707)gaG>gaA	p.E1569E	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Silent_p.E1569E|GON4L_ENST00000271883.5_Silent_p.E1569E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1569	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCTGCTGGTCTCCACTTCTG	0.498																																																	0													50	50	50					1																	155733122		1914	4143	6057	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4707G>A	1.37:g.155733122C>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1569	ENST00000368331.1	37	c.4707		1																																																																																			GON4L	-	NULL		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155733122	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	0.998	T	T	155733122	C	T	155733122	2	4	153	1	0	0	0	0	0	0	0	1	6591	912	32	1		1	GON4L	1	155733122	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	405677	155733122	93517499	78	26052			1	113		4	4	1702	N	T_C	7.595287e-05
GON4L	54856	genome.wustl.edu	37	chr1	155733142	155733142	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctccacttctggagcagtctCaggtgaagcaaaagtaggag	12	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155733142C>T	ENST00000368331.1	-	22	4735	c.4687G>A	c.(4687-4689)Gag>Aag	p.E1563K	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.E1563K|GON4L_ENST00000271883.5_Missense_Mutation_p.E1563K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1563	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGCAGTCTCAGGTGAAGCA	0.483																																																	0													51	51	51					1																	155733142		1930	4150	6080	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4687G>A	1.37:g.155733142C>T	ENSP00000357315:p.Glu1563Lys		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1563K	ENST00000368331.1	37	c.4687		1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299854	0.05532	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.09723	2.95;2.95;2.95	4.93	-6.12	0.02124	.	1.243270	0.05454	N	0.550009	T	0.00580	0.0019	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.44651	-0.9314	10	0.06757	T	0.87	.	5.6574	0.17650	0.1042:0.1436:0.5535:0.1987	.	759;1563;1563	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	K	1563	ENSP00000396117:E1563K;ENSP00000357315:E1563K;ENSP00000271883:E1563K	ENSP00000271883:E1563K	E	-	1	0	GON4L	153999766	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.917000	0.04025	-1.434000	0.01975	-0.367000	0.07326	GAG	GON4L	-	NULL		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155733142	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.000	T	T	155733142	C	T	155733142	3	4	153	1	0	0	0	0	1	0	0	0	6591	835	29	1	2079	1	GON4L	1	155733142	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	20	155733142	93517479	79	26053			1	113		4	4	1702	N	T_C	7.595287e-05
GON4L	54856	genome.wustl.edu	37	chr1	155733290	155733290	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctcctgagaattctcttcTtcagactcaccctcctgact	4	16	4	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155733290T>A	ENST00000368331.1	-	22	4587	c.4539A>T	c.(4537-4539)gaA>gaT	p.E1513D	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.E1513D|GON4L_ENST00000271883.5_Missense_Mutation_p.E1513D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1513	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATTCTCTTCTTCAGACTCAC	0.468																																																	0													37	35	36					1																	155733290		1809	3993	5802	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4539A>T	1.37:g.155733290T>A	ENSP00000357315:p.Glu1513Asp		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1513D	ENST00000368331.1	37	c.4539		1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357621	0.82243	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.18810	2.19;2.19;2.19	4.78	3.82	0.43975	.	0.058426	0.64402	D	0.000004	T	0.25005	0.0607	L	0.56769	1.78	0.37270	D	0.907361	D;D;D	0.76494	0.994;0.998;0.999	D;D;D	0.79784	0.97;0.984;0.993	T	0.03112	-1.1071	10	0.35671	T	0.21	.	8.8634	0.35272	0.0:0.7989:0.0:0.2011	.	709;1513;1513	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	D	1513	ENSP00000396117:E1513D;ENSP00000357315:E1513D;ENSP00000271883:E1513D	ENSP00000271883:E1513D	E	-	3	2	GON4L	153999914	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.229000	0.32600	1.123000	0.41961	0.459000	0.35465	GAA	GON4L	-	NULL		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		T	NM_032292		155733290	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155733290	T	A	155733290	3	1	153	1	0	0	0	0	1	0	0	0	6591	1606	56	5	2227	5	GON4L	1	155733290	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	148	155733290	93517331	80	26054			1	113		4	4	1702	N	T_C	7.595287e-05
GON4L	54856	genome.wustl.edu	37	chr1	155734823	155734823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacagaaagcacagattcctCagaagctgatgacatttcat	8	9	2	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155734823C>G	ENST00000368331.1	-	21	4489	c.4441G>C	c.(4441-4443)Gag>Cag	p.E1481Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.E1481Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E1481Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E1481Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1481	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACAGATTCCTCAGAAGCTGAT	0.443																																																	0													78	72	74					1																	155734823		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4441G>C	1.37:g.155734823C>G	ENSP00000357315:p.Glu1481Gln		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1481Q	ENST00000368331.1	37	c.4441		1	.	.	.	.	.	.	.	.	.	.	C	30	5.052889	0.93793	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.43688	1.32;1.32;1.32;0.94	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.59436	1.845	0.49130	D	0.999752	D;P;D;D	0.89917	1.0;0.935;0.974;0.985	D;P;P;P	0.85130	0.997;0.494;0.638;0.801	T	0.55464	-0.8137	10	0.54805	T	0.06	.	18.228	0.89924	0.0:1.0:0.0:0.0	.	1481;677;1481;1481	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Q	1481	ENSP00000396117:E1481Q;ENSP00000357315:E1481Q;ENSP00000271883:E1481Q;ENSP00000354322:E1481Q	ENSP00000271883:E1481Q	E	-	1	0	GON4L	154001447	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.202000	0.77856	2.630000	0.89119	0.650000	0.86243	GAG	GON4L	-	NULL		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155734823	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155734823	C	G	155734823	3	3	153	1	0	0	0	0	1	0	0	0	6591	835	29	1	2446	1	GON4L	1	155734823	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1533	155734823	93515798	81	26055			1	113		4	4	1702	N	T_C	7.595287e-05
SSR2	6746	genome.wustl.edu	37	chr1	155989846	155989846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtactgcaaggtcaggtctCgtccctccacggcgtatctg	11	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155989846C>T	ENST00000295702.4	-	2	184	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SSR2_ENST00000496742.1_Missense_Mutation_p.R38Q|SSR2_ENST00000529008.1_Missense_Mutation_p.R38Q|SSR2_ENST00000480567.1_Missense_Mutation_p.R38Q	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	38					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCAGGTCTCGTCCCTCCAC	0.468																																																	0													123	113	116					1																	155989846		2203	4300	6503	SO:0001583	missense	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.113G>A	1.37:g.155989846C>T	ENSP00000295702:p.Arg38Gln		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Missense_Mutation	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.R38Q	ENST00000295702.4	37	c.113	CCDS1126.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855938	0.91355	.	.	ENSG00000163479	ENST00000295702;ENST00000529008;ENST00000496742;ENST00000480567;ENST00000531917;ENST00000526212	.	.	.	5.22	4.19	0.49359	.	0.152203	0.44688	D	0.000430	T	0.18341	0.0440	L	0.49126	1.545	0.33547	D	0.595618	P;P;P	0.50943	0.94;0.66;0.66	B;B;B	0.40659	0.336;0.235;0.266	T	0.15492	-1.0435	9	0.38643	T	0.18	-5.4549	4.7309	0.12964	0.0:0.7363:0.0:0.2637	.	59;57;38	Q6MZE4;B4DUJ9;P43308	.;.;SSRB_HUMAN	Q	38	.	ENSP00000295702:R38Q	R	-	2	0	SSR2	154256470	0.987000	0.35691	0.997000	0.53966	0.943000	0.58893	3.441000	0.52893	2.412000	0.81896	0.430000	0.28490	CGA	SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta		0.468	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155989846	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	missense	SNP	0.651	T	T	155989846	C	T	155989846	3	4	153	1	0	0	0	0	1	0	0	0	15221	884	31	1	458	1	SSR2	1	155989846	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	255023	155989846	93260775	82	26056										
MEX3A	92312	genome.wustl.edu	37	chr1	156047250	156047250	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggtagggcacccgcacacgGatggtcacctggccgggcag	16	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:156047250G>A	ENST00000532414.2	-	2	677	c.678C>T	c.(676-678)atC>atT	p.I226I	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_Intron	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	226	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCCGCACACGGATGGTCACCT	0.622																																																	0													64	75	71					1																	156047250		2176	4279	6455	SO:0001819	synonymous_variant	92312			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.678C>T	1.37:g.156047250G>A				Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.I226	ENST00000532414.2	37	c.678	CCDS53377.1	1																																																																																			MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.622	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	G	NM_001093725		156047250	-1	no_errors	ENST00000532414	ensembl	human	known	70_37	silent	SNP	1.000	A	A	156047250	G	A	156047250	2	1	153	1	0	0	0	0	0	0	0	1	9532	1164	41	1		1	MEX3A	1	156047250	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	57404	156047250	93203371	83	26057										
CD1A	909	genome.wustl.edu	37	chr1	158226847	158226847	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagggccaggacatcgtcctCtactggggtgagaaaaagct	14	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567																																																	0													52	51	51					1																	158226847		2203	4300	6503	SO:0001819	synonymous_variant	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.876C>T	1.37:g.158226847C>T			D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L292	ENST00000289429.5	37	c.876	CCDS1174.1	1																																																																																			CD1A	-	NULL		0.567	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	C	NM_001763		158226847	1	no_errors	ENST00000289429	ensembl	human	known	70_37	silent	SNP	0.942	T	T	158226847	C	T	158226847	2	4	153	1	0	0	0	0	0	0	0	1	2979	900	32	1		1	CD1A	1	158226847	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2179597	158226847	91023774	84	26058										
CD1B	910	genome.wustl.edu	37	chr1	158300813	158300813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggtactattggtaaaggacGaggtctggataacatgaaag	13	4	1	1	rs201728287		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:158300813G>A	ENST00000368168.3	-	2	208	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	34					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGTAAAGGACGAGGTCTGGAT	0.488																																																	0								G	LEU/SER	0,4406		0,0,2203	230	221	224		101	1.2	0	1		224	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD1B	NM_001764.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	34/334	158300813	1,13005	2203	4300	6503	SO:0001583	missense	910			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.101C>T	1.37:g.158300813G>A	ENSP00000357150:p.Ser34Leu		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.S34L	ENST00000368168.3	37	c.101	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	G	9.888	1.203315	0.22121	0.0	1.16E-4	ENSG00000158485	ENST00000368168	T	0.18174	2.23	4.15	1.22	0.21188	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.234460	0.22253	N	0.062528	T	0.12689	0.0308	M	0.84219	2.685	0.09310	N	1	P;P	0.51351	0.939;0.944	P;B	0.48063	0.565;0.382	T	0.06127	-1.0844	10	0.51188	T	0.08	-0.7329	6.4803	0.22060	0.3161:0.0:0.6839:0.0	.	34;34	B4E0D2;P29016	.;CD1B_HUMAN	L	34	ENSP00000357150:S34L	ENSP00000357150:S34L	S	-	2	0	CD1B	156567437	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.840000	0.27600	0.161000	0.19458	-0.136000	0.14681	TCG	CD1B	-	superfamily_MHC_I/II-like_Ag-recog		0.488	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	G	NM_001764		158300813	-1	no_errors	ENST00000368168	ensembl	human	known	70_37	missense	SNP	0.005	A	A	158300813	G	A	158300813	3	1	153	1	0	0	0	0	1	0	0	0	2980	1059	37	1	920	1	CD1B	1	158300813	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	73966	158300813	90949808	85	26059										
OR6N1	128372	genome.wustl.edu	37	chr1	158736195	158736195	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaggagacacccagagaatGaaatggtctttttctcactg	10	9	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:158736195G>A	ENST00000335094.2	-	1	297	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCCAGAGAATGAAATGGTCTT	0.473																																																	0													79	75	76					1																	158736195		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.278C>T	1.37:g.158736195G>A	ENSP00000335535:p.Ser93Leu		Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S93L	ENST00000335094.2	37	c.278	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007184	0.75046	.	.	ENSG00000197403	ENST00000335094	T	0.00737	5.76	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000552	T	0.02807	0.0084	M	0.89904	3.07	0.38868	D	0.956636	D	0.76494	0.999	D	0.81914	0.995	T	0.18461	-1.0336	10	0.59425	D	0.04	-16.2817	12.7385	0.57238	0.0809:0.0:0.9191:0.0	.	93	Q8NGY5	OR6N1_HUMAN	L	93	ENSP00000335535:S93L	ENSP00000335535:S93L	S	-	2	0	OR6N1	157002819	1.000000	0.71417	0.969000	0.41365	0.944000	0.59088	6.005000	0.70716	1.356000	0.45884	0.655000	0.94253	TCA	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	G	NM_001005185		158736195	-1	no_errors	ENST00000335094	ensembl	human	known	70_37	missense	SNP	0.999	A	A	158736195	G	A	158736195	3	1	153	1	0	0	0	0	1	0	0	0	11230	1294	45	1	663	1	OR6N1	1	158736195	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	435382	158736195	90514426	86	26060										
COPA	1314	genome.wustl.edu	37	chr1	160276954	160276954	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttttagtcttaactcaccGaatgcatccgatctaggaca	7	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:160276954G>A	ENST00000241704.7	-	14	1530	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	COPA_ENST00000368069.3_Splice_Site_p.S434L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	434					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTAACTCACCGAATGCATCCG	0.483																																																	0													157	155	155					1																	160276954		2203	4300	6503	SO:0001630	splice_region_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1302+1C>T	1.37:g.160276954G>A			Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S434L	ENST00000241704.7	37	c.1301	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628656	0.67015	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62105	0.06;0.05	5.46	5.46	0.80206	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	L	0.58101	1.795	0.80722	D	1	B;B	0.33964	0.016;0.434	B;B	0.32289	0.009;0.143	T	0.57165	-0.7858	10	0.56958	D	0.05	-5.566	18.0325	0.89289	0.0:0.0:1.0:0.0	.	434;434	P53621;P53621-2	COPA_HUMAN;.	L	434	ENSP00000357048:S434L;ENSP00000241704:S434L	ENSP00000241704:S434L	S	-	2	0	COPA	158543578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.358000	0.97109	2.847000	0.97988	0.591000	0.81541	TCG	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu		0.483	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	G	NM_004371	Missense_Mutation	160276954	-1	no_errors	ENST00000368069	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160276954	G	A	160276954	5	1	153	1	0	0	0	0	0	0	1	0	3732	1072	37	1	2480	1	COPA	1	160276954	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1540759	160276954	88973667	87	26061										
LY9	4063	genome.wustl.edu	37	chr1	160766081	160766081	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcttctgttctacagacctCtctcctcttcctgctcatgg	5	16	6	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:160766081C>G	ENST00000263285.6	+	1	134	c.104C>G	c.(103-105)tCt>tGt	p.S35C	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.S35C|LY9_ENST00000341032.4_Missense_Mutation_p.S35C|LY9_ENST00000368037.5_Missense_Mutation_p.S35C|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.S35C			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	35					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTACAGACCTCTCTCCTCTTC	0.517																																																	0													185	199	195					1																	160766081		2203	4300	6503	SO:0001583	missense	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.104C>G	1.37:g.160766081C>G	ENSP00000263285:p.Ser35Cys		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S35C	ENST00000263285.6	37	c.104	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676180	0.14841	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039	T;T;T	0.35973	1.41;1.28;1.4	3.14	1.26	0.21427	.	1.664210	0.04449	U	0.372252	T	0.13970	0.0338	L	0.50333	1.59	0.21652	N	0.999608	B;B;B;B;B	0.12630	0.003;0.006;0.005;0.003;0.006	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.001;0.003	T	0.25293	-1.0136	10	0.45353	T	0.12	1.1475	5.3186	0.15870	0.0:0.7293:0.0:0.2707	.	35;35;35;35;35	B4E0J5;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;LY9_HUMAN;.	C	35	ENSP00000342921:S35C;ENSP00000263285:S35C;ENSP00000357018:S35C	ENSP00000263285:S35C	S	+	2	0	LY9	159032705	0.033000	0.19621	0.038000	0.18304	0.481000	0.33189	-0.034000	0.12225	0.342000	0.23796	-0.259000	0.10710	TCT	LY9	-	NULL		0.517	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	C	NM_002348		160766081	1	no_errors	ENST00000263285	ensembl	human	known	70_37	missense	SNP	0.055	G	G	160766081	C	G	160766081	3	3	153	1	0	0	0	0	1	0	0	0	9124	913	32	1	106	1	LY9	1	160766081	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	489127	160766081	88484540	88	26062										
NOS1AP	9722	genome.wustl.edu	37	chr1	162326791	162326791	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgctgacagcctcacccagGatgctgctcccttcttcttc	7	16	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:162326791G>A	ENST00000361897.5	+	8	1206	c.804G>A	c.(802-804)agG>agA	p.R268R	NOS1AP_ENST00000530878.1_Silent_p.R263R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	268					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCTCACCCAGGATGCTGCTCC	0.617																																																	0													174	174	174					1																	162326791		2203	4300	6503	SO:0001819	synonymous_variant	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.804G>A	1.37:g.162326791G>A			B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.R268	ENST00000361897.5	37	c.804	CCDS1237.1	1																																																																																			NOS1AP	-	NULL		0.617	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	G	NM_014697		162326791	1	no_errors	ENST00000361897	ensembl	human	known	70_37	silent	SNP	1.000	A	A	162326791	G	A	162326791	2	1	153	1	0	0	0	0	0	0	0	1	10566	1165	41	1		1	NOS1AP	1	162326791	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1560710	162326791	86923830	89	26063										
MAEL	84944	genome.wustl.edu	37	chr1	166959038	166959038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaatggagggccgctcaggGaaaggaccctgggccctcag	16	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:166959038G>A	ENST00000367872.4	+	2	441	c.197G>A	c.(196-198)gGa>gAa	p.G66E	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	66					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCCGCTCAGGGAAAGGACCCT	0.507																																																	0													28	34	32					1																	166959038		2203	4300	6503	SO:0001583	missense	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.197G>A	1.37:g.166959038G>A	ENSP00000356846:p.Gly66Glu		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.G66E	ENST00000367872.4	37	c.197	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378516	0.61735	.	.	ENSG00000143194	ENST00000367872	T	0.12984	2.63	5.18	5.18	0.71444	Domain of unknown function DUF1898 (1);	0.249150	0.28409	N	0.015448	T	0.06962	0.0177	N	0.14661	0.345	0.80722	D	1	D	0.57571	0.98	P	0.52957	0.714	T	0.22941	-1.0202	10	0.39692	T	0.17	.	9.762	0.40537	0.0942:0.0:0.9058:0.0	.	66	Q96JY0	MAEL_HUMAN	E	66	ENSP00000356846:G66E	ENSP00000356846:G66E	G	+	2	0	MAEL	165225662	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	2.178000	0.42519	2.418000	0.82041	0.467000	0.42956	GGA	MAEL	-	pfam_HMG_superfamily		0.507	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	G	NM_032858		166959038	1	no_errors	ENST00000367872	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166959038	G	A	166959038	3	1	153	1	0	0	0	0	1	0	0	0	9177	1174	41	1	203	1	MAEL	1	166959038	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4632247	166959038	82291583	90	26064										
ADCY10	55811	genome.wustl.edu	37	chr1	167839599	167839599	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttggctgctgttagatatCaaaaatttcttcatagtata	6	6	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:167839599C>G	ENST00000367851.4	-	14	1696	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F	ADCY10_ENST00000545172.1_Missense_Mutation_p.L351F|ADCY10_ENST00000367848.1_Missense_Mutation_p.L412F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	504					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGTTAGATATCAAAAATTTCT	0.328																																																	0													89	84	86					1																	167839599		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1512G>C	1.37:g.167839599C>G	ENSP00000356825:p.Leu504Phe		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L504F	ENST00000367851.4	37	c.1512	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495350	0.26774	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35605	1.32;1.31;1.3	5.71	2.71	0.32032	.	0.299822	0.22859	N	0.054772	T	0.37489	0.1005	M	0.72894	2.215	0.32291	N	0.5663199999999999	D;D;D	0.71674	0.998;0.996;0.994	D;D;P	0.69142	0.962;0.931;0.854	T	0.33548	-0.9864	9	0.56958	D	0.05	-7.3136	4.548	0.12090	0.1578:0.6069:0.1523:0.0829	.	351;412;504	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	F	351;504;412	ENSP00000441992:L351F;ENSP00000356825:L504F;ENSP00000356822:L412F	ENSP00000356822:L412F	L	-	3	2	ADCY10	166106223	0.126000	0.22350	0.434000	0.26772	0.013000	0.08279	0.717000	0.25851	0.753000	0.32945	-0.181000	0.13052	TTG	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.328	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	C	NM_018417		167839599	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.130	G	G	167839599	C	G	167839599	3	3	153	1	0	0	0	0	1	0	0	0	293	825	29	1	3400	1	ADCY10	1	167839599	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	880561	167839599	81411022	91	26065										
C1orf112	55732	genome.wustl.edu	37	chr1	169806152	169806152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccttccaggcgttacctcctGagcttagggaacaaactgtc	9	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:169806152G>C	ENST00000286031.6	+	17	2324	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	C1orf112_ENST00000359326.4_Missense_Mutation_p.E542Q|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	542										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTACCTCCTGAGCTTAGGGA	0.448																																																	0													81	76	77					1																	169806152		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1624G>C	1.37:g.169806152G>C	ENSP00000286031:p.Glu542Gln		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.E542Q	ENST00000286031.6	37	c.1624	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773470	0.49786	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.42900	0.96;0.96	6.17	5.26	0.73747	.	0.434895	0.28268	N	0.015974	T	0.29945	0.0749	L	0.60455	1.87	0.26621	N	0.972641	P;P	0.47604	0.715;0.898	P;P	0.48921	0.471;0.595	T	0.20605	-1.0270	10	0.46703	T	0.11	-4.7854	8.3965	0.32559	0.0771:0.0:0.7698:0.153	.	484;542	B4DGF2;Q9NSG2	.;CA112_HUMAN	Q	542	ENSP00000352276:E542Q;ENSP00000286031:E542Q	ENSP00000286031:E542Q	E	+	1	0	C1orf112	168072776	0.997000	0.39634	0.067000	0.19924	0.009000	0.06853	1.896000	0.39789	1.630000	0.50440	0.655000	0.94253	GAG	C1orf112	-	NULL		0.448	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	G	NM_018186		169806152	1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	0.096	C	C	169806152	G	C	169806152	3	2	153	1	0	0	0	0	1	0	0	0	1990	1291	45	1	1682	1	C1orf112	1	169806152	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1966553	169806152	79444469	92	26066										
FMO2	2327	genome.wustl.edu	37	chr1	171165874	171165874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagagcaacggcaaggagcaGagtgctgtctttgacgcagt	14	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:171165874G>A	ENST00000209929.7	+	4	566	c.408G>A	c.(406-408)caG>caA	p.Q136Q	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Silent_p.Q136Q|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	136					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGAGCAGAGTGCTGTCT	0.493																																																	0													162	136	145					1																	171165874		2203	4300	6503	SO:0001819	synonymous_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.408G>A	1.37:g.171165874G>A			Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.Q136	ENST00000209929.7	37	c.408	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase		0.493	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	G	NM_001460		171165874	1	no_errors	ENST00000209929	ensembl	human	known	70_37	silent	SNP	0.000	A	A	171165874	G	A	171165874	2	1	153	1	0	0	0	0	0	0	0	1	5973	933	33	1		1	FMO2	1	171165874	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1359722	171165874	78084747	93	26067										
BAT2L2	23215	genome.wustl.edu	37	chr1	171509776	171509776	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagcctgaaaagacggaaaaGaaggatcttcctcctccccc	8	13	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:171509776G>C	ENST00000338920.4	+	16	3402	c.3165G>C	c.(3163-3165)aaG>aaC	p.K1055N	PRRC2C_ENST00000426496.2_Missense_Mutation_p.K1055N|PRRC2C_ENST00000367742.3_Missense_Mutation_p.K1057N|PRRC2C_ENST00000392078.3_Missense_Mutation_p.K1057N	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1055					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGACGGAAAAGAAGGATCTTC	0.473																																																	0													112	116	115					1																	171509776		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3165G>C	1.37:g.171509776G>C	ENSP00000343629:p.Lys1055Asn		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.K1057N	ENST00000338920.4	37	c.3171	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	2.825	-0.243862	0.05906	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	5.9	3.04	0.35103	.	0.000000	0.49305	D	0.000156	T	0.02929	0.0087	L	0.32530	0.975	0.43287	D	0.995266	D	0.71674	0.998	D	0.66351	0.943	T	0.54576	-0.8273	10	0.46703	T	0.11	.	8.9534	0.35803	0.3466:0.0:0.6534:0.0	.	1055	Q9Y520-4	.	N	1057;1056;1055;1057;1055;812	ENSP00000375928:K1057N;ENSP00000410219:K1055N;ENSP00000356716:K1057N;ENSP00000343629:K1055N	ENSP00000343629:K1055N	K	+	3	2	PRRC2C	169776400	1.000000	0.71417	0.998000	0.56505	0.512000	0.34134	5.083000	0.64456	0.404000	0.25506	-0.157000	0.13467	AAG	PRRC2C	-	NULL		0.473	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	G	NM_015172		171509776	1	no_errors	ENST00000392078	ensembl	human	known	70_37	missense	SNP	1.000	C	C	171509776	G	C	171509776	3	2	153	1	0	0	0	0	1	0	0	0	1322	933	33	1	3223	1	BAT2L2	1	171509776	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	343902	171509776	77740845	94	26068										
TNN	63923	genome.wustl.edu	37	chr1	175066664	175066664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtacgtggtgcgctacacctCtgctgacgaccaagagacca	11	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:175066664C>G	ENST00000239462.4	+	8	1813	c.1700C>G	c.(1699-1701)tCt>tGt	p.S567C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	567	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCTGACGAC	0.592																																																	0													84	71	75					1																	175066664		2203	4300	6503	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1700C>G	1.37:g.175066664C>G	ENSP00000239462:p.Ser567Cys		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.S567C	ENST00000239462.4	37	c.1700	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490416	0.64074	.	.	ENSG00000120332	ENST00000239462	T	0.58797	0.31	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205916	0.35903	N	0.002916	D	0.82751	0.5105	M	0.93898	3.47	0.47374	D	0.999407	D	0.71674	0.998	D	0.72075	0.976	D	0.86353	0.1712	10	0.59425	D	0.04	.	19.2771	0.94036	0.0:1.0:0.0:0.0	.	567	Q9UQP3	TENN_HUMAN	C	567	ENSP00000239462:S567C	ENSP00000239462:S567C	S	+	2	0	TNN	173333287	0.969000	0.33509	0.857000	0.33713	0.203000	0.24098	5.150000	0.64869	2.630000	0.89119	0.655000	0.94253	TCT	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	C	XM_040527		175066664	1	no_errors	ENST00000239462	ensembl	human	known	70_37	missense	SNP	1.000	G	G	175066664	C	G	175066664	3	3	153	1	0	0	0	0	1	0	0	0	16353	913	32	1	1726	1	TNN	1	175066664	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3556888	175066664	74183957	95	26069										
HMCN1	83872	genome.wustl.edu	37	chr1	186157140	186157140	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accaacgggatcctgtttcaGggtatgtcttgccttctcat	9	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:186157140G>T	ENST00000271588.4	+	106	16769	c.16540G>T	c.(16540-16542)Ggg>Tgg	p.G5514W	HMCN1_ENST00000367492.2_Splice_Site_p.G5397W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5514					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTGTTTCAGGGTATGTCTT	0.478																																																	0													303	227	253					1																	186157140		2203	4300	6503	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16541+1G>T	1.37:g.186157140G>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G5514W	ENST00000271588.4	37	c.16540	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912887	0.92178	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.88124	-2.34;-2.34;-2.34	5.71	5.71	0.89125	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	M	0.62723	1.935	0.50813	D	0.999897	D	0.89917	1.0	D	0.77557	0.99	D	0.92907	0.6344	10	0.72032	D	0.01	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	5514	Q96RW7	HMCN1_HUMAN	W	5514;5397;189	ENSP00000271588:G5514W;ENSP00000356462:G5397W;ENSP00000406205:G189W	ENSP00000271588:G5514W	G	+	1	0	HMCN1	184423763	1.000000	0.71417	0.964000	0.40570	0.835000	0.47333	8.000000	0.88501	2.686000	0.91538	0.650000	0.86243	GGG	HMCN1	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935	Missense_Mutation	186157140	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	T	T	186157140	G	T	186157140	5	4	153	1	0	0	0	0	0	0	1	0	7240	1014	35	4	16962	4	HMCN1	1	186157140	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	11090476	186157140	63093481	96	26070										
CFHR3	10878	genome.wustl.edu	37	chr1	196748399	196748399	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatattactcctattactgtGatgaacattttgagactcct	5	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:196748399G>A	ENST00000367425.4	+	2	258	c.166G>A	c.(166-168)Gat>Aat	p.D56N	CFHR3_ENST00000391985.3_Missense_Mutation_p.D56N|CFHR3_ENST00000471440.2_Missense_Mutation_p.D56N	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	56	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CTATTACTGTGATGAACATTT	0.388																																																	0													87	98	94					1																	196748399		1919	4138	6057	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.166G>A	1.37:g.196748399G>A	ENSP00000356395:p.Asp56Asn		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D56N	ENST00000367425.4	37	c.166	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367809	0.24771	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.66099	-0.19;-0.19;-0.19	2.86	-3.82	0.04281	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.56217	0.1970	L	0.31578	0.945	0.09310	N	1	P;D;P	0.61080	0.892;0.989;0.489	P;D;B	0.65874	0.62;0.939;0.302	T	0.47649	-0.9101	9	0.39692	T	0.17	.	0.5753	0.00702	0.3717:0.1742:0.2779:0.1762	.	56;56;56	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	N	56	ENSP00000356395:D56N;ENSP00000436258:D56N;ENSP00000375845:D56N	ENSP00000356395:D56N	D	+	1	0	CFHR3	195015022	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.117000	0.00597	-0.699000	0.05077	0.184000	0.17185	GAT	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.388	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	G	NM_021023		196748399	1	no_errors	ENST00000367425	ensembl	human	known	70_37	missense	SNP	0.002	A	A	196748399	G	A	196748399	3	1	153	1	0	0	0	0	1	0	0	0	3291	1290	45	1	172	1	CFHR3	1	196748399	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	10591259	196748399	52502222	97	26071										
ZNF281	23528	genome.wustl.edu	37	chr1	200377147	200377147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agactgaatgacagactgttGggagaccatgtgtcctacgt	12	8	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:200377147G>C	ENST00000294740.3	-	2	1811	c.1687C>G	c.(1687-1689)Caa>Gaa	p.Q563E	ZNF281_ENST00000367353.1_Missense_Mutation_p.Q563E|ZNF281_ENST00000367352.3_Missense_Mutation_p.Q527E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	563					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q563*(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACAGACTGTTGGGAGACCATG	0.403																																																	1	Substitution - Nonsense(1)	breast(1)											72	66	68					1																	200377147		2203	4300	6503	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1687C>G	1.37:g.200377147G>C	ENSP00000294740:p.Gln563Glu		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q563E	ENST00000294740.3	37	c.1687	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096730	0.36952	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.58210	0.35;0.35;0.35	5.49	5.49	0.81192	.	0.108957	0.64402	D	0.000005	T	0.53238	0.1784	M	0.66939	2.045	0.52099	D	0.999944	P;P	0.39782	0.688;0.462	B;B	0.33750	0.169;0.121	T	0.62086	-0.6928	10	0.87932	D	0	-4.6676	19.3861	0.94556	0.0:0.0:1.0:0.0	.	527;563	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	563;563;527;268	ENSP00000294740:Q563E;ENSP00000356322:Q563E;ENSP00000356321:Q527E	ENSP00000294740:Q563E	Q	-	1	0	ZNF281	198643770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.394000	0.97261	2.565000	0.86533	0.655000	0.94253	CAA	ZNF281	-	NULL		0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	G	NM_012482		200377147	-1	no_errors	ENST00000294740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	200377147	G	C	200377147	3	2	153	1	0	0	0	0	1	0	0	0	17848	1357	47	4	1004	4	ZNF281	1	200377147	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3628748	200377147	48873474	98	26072										
NAV1	89796	genome.wustl.edu	37	chr1	201750173	201750173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagagaagcgctcactggcaGaaagtgggctgagctggttt	15	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201750173G>A	ENST00000367296.4	+	5	1819	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.E76K|NAV1_ENST00000295624.6_Missense_Mutation_p.E467K|NAV1_ENST00000367297.4_Missense_Mutation_p.E467K|NAV1_ENST00000367300.3_Missense_Mutation_p.E467K|NAV1_ENST00000367302.1_Missense_Mutation_p.E480K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	467					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCACTGGCAGAAAGTGGGCT	0.483																																																	0													64	70	68					1																	201750173		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1399G>A	1.37:g.201750173G>A	ENSP00000356265:p.Glu467Lys		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.E467K	ENST00000367296.4	37	c.1399	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.519283|5.519283	0.96416|0.96416	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295|ENST00000430015	T;T;T;T;T;T|.	0.35605|.	1.3;1.3;1.3;1.3;1.3;1.3|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.049246|.	0.85682|.	D|.	0.000000|.	T|T	0.71476|0.71476	0.3344|0.3344	L|L	0.52126|0.52126	1.63|1.63	0.50632|0.50632	D|D	0.999889|0.999889	D;D;D|.	0.69078|.	0.997;0.97;0.988|.	D;P;P|.	0.64144|.	0.922;0.79;0.778|.	T|T	0.66040|0.66040	-0.6022|-0.6022	10|5	0.87932|.	D|.	0|.	-24.5835|-24.5835	19.8545|19.8545	0.96752|0.96752	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76;467;467|.	Q8NEY1-5;Q8NEY1;Q8NEY1-3|.	.;NAV1_HUMAN;.|.	K|K	480;467;467;467;467;76|24	ENSP00000356271:E480K;ENSP00000356265:E467K;ENSP00000295624:E467K;ENSP00000356266:E467K;ENSP00000356269:E467K;ENSP00000356264:E76K|.	ENSP00000295624:E467K|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200016796|200016796	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.914000|7.914000	0.87478|0.87478	2.774000|2.774000	0.95407|0.95407	0.655000|0.655000	0.94253|0.94253	GAA|AGA	NAV1	-	NULL		0.483	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201750173	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201750173	G	A	201750173	3	1	153	1	0	0	0	0	1	0	0	0	10206	943	33	1	1474	1	NAV1	1	201750173	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1373026	201750173	47500448	99	26073										
NAV1	89796	genome.wustl.edu	37	chr1	201752765	201752765	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccagggcctggagctaatGagtggtttcagtgtgccaaa	13	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201752765G>C	ENST00000367296.4	+	7	3009	c.2589G>C	c.(2587-2589)atG>atC	p.M863I	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.M472I|NAV1_ENST00000295624.6_Missense_Mutation_p.M863I|NAV1_ENST00000367297.4_Missense_Mutation_p.M863I|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.M863I|NAV1_ENST00000367302.1_Missense_Mutation_p.M876I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	863					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGAGCTAATGAGTGGTTTCA	0.587																																																	0													91	94	93					1																	201752765		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2589G>C	1.37:g.201752765G>C	ENSP00000356265:p.Met863Ile		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.M863I	ENST00000367296.4	37	c.2589	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.508288|2.508288	0.44660|0.44660	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.06449	.|3.3;3.31;3.31;3.31;3.3;3.32	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.233971	.|0.40908	.|D	.|0.000993	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.19112|0.19112	0.55|0.55	0.29893|0.29893	N|N	0.825076|0.825076	.|P;P;B;P;P	.|0.44281	.|0.802;0.497;0.257;0.831;0.73	.|B;B;B;P;B	.|0.54664	.|0.33;0.16;0.103;0.758;0.35	T|T	0.01810|0.01810	-1.1269|-1.1269	5|10	.|0.54805	.|T	.|0.06	-32.8706|-32.8706	13.0247|13.0247	0.58808|0.58808	0.0:0.0:0.8385:0.1615|0.0:0.0:0.8385:0.1615	.|.	.|863;472;863;371;863	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	Q|I	421|876;863;863;863;863;371;472	.|ENSP00000356271:M876I;ENSP00000356265:M863I;ENSP00000295624:M863I;ENSP00000356266:M863I;ENSP00000356269:M863I;ENSP00000356264:M472I	.|ENSP00000295624:M863I	E|M	+|+	1|3	0|0	NAV1|NAV1	200019388|200019388	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.965000|0.965000	0.64279|0.64279	4.382000|4.382000	0.59594|0.59594	2.403000|2.403000	0.81681|0.81681	0.404000|0.404000	0.27445|0.27445	GAG|ATG	NAV1	-	NULL		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201752765	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	0.995	C	C	201752765	G	C	201752765	3	2	153	1	0	0	0	0	1	0	0	0	10206	1290	45	1	2672	1	NAV1	1	201752765	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2592	201752765	47497856	100	26074										
NAV1	89796	genome.wustl.edu	37	chr1	201752930	201752930	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgctcccacagaagaagaGacggaagagctgacttggag	14	9	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201752930G>C	ENST00000367296.4	+	7	3174	c.2754G>C	c.(2752-2754)gaG>gaC	p.E918D	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.E527D|NAV1_ENST00000295624.6_Missense_Mutation_p.E918D|NAV1_ENST00000367297.4_Missense_Mutation_p.E918D|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.E918D|NAV1_ENST00000367302.1_Missense_Mutation_p.E931D	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	918					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGAAGAAGAGACGGAAGAGC	0.612																																																	0													46	49	48					1																	201752930		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2754G>C	1.37:g.201752930G>C	ENSP00000356265:p.Glu918Asp		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.E918D	ENST00000367296.4	37	c.2754	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.952|7.952	0.745074|0.745074	0.15710|0.15710	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.07327	.|3.2;3.21;3.21;3.21;3.21;3.21	5.53|5.53	-1.56|-1.56	0.08532|0.08532	.|.	.|0.646641	.|0.15936	.|N	.|0.237459	T|T	0.05181|0.05181	0.0138|0.0138	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B	.|0.06786	.|0.001;0.001;0.0;0.001;0.0	.|B;B;B;B;B	.|0.10450	.|0.003;0.003;0.001;0.005;0.001	T|T	0.43180|0.43180	-0.9407|-0.9407	5|10	.|0.17832	.|T	.|0.49	-15.0691|-15.0691	6.5737|6.5737	0.22553|0.22553	0.2998:0.2355:0.4647:0.0|0.2998:0.2355:0.4647:0.0	.|.	.|918;527;918;426;918	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|D	476|931;918;918;918;918;426;527	.|ENSP00000356271:E931D;ENSP00000356265:E918D;ENSP00000295624:E918D;ENSP00000356266:E918D;ENSP00000356269:E918D;ENSP00000356264:E527D	.|ENSP00000295624:E918D	D|E	+|+	1|3	0|2	NAV1|NAV1	200019553|200019553	0.004000|0.004000	0.15560|0.15560	0.031000|0.031000	0.17742|0.17742	0.970000|0.970000	0.65996|0.65996	-0.129000|-0.129000	0.10515|0.10515	-0.165000|-0.165000	0.10908|0.10908	0.460000|0.460000	0.39030|0.39030	GAC|GAG	NAV1	-	NULL		0.612	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201752930	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	0.039	C	C	201752930	G	C	201752930	3	2	153	1	0	0	0	0	1	0	0	0	10206	933	33	1	2837	1	NAV1	1	201752930	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	165	201752930	47497691	101	26075										
NAV1	89796	genome.wustl.edu	37	chr1	201789016	201789016	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaactacattgagtctccaGatcgagaaaccatcctggac	7	13	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201789016G>A	ENST00000367296.4	+	30	6010	c.5590G>A	c.(5590-5592)Gat>Aat	p.D1864N	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.D1470N|IPO9-AS1_ENST00000421159.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.D1861N|NAV1_ENST00000367297.4_Missense_Mutation_p.D1856N|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.D1804N|NAV1_ENST00000367302.1_Missense_Mutation_p.D1817N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1864					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGAGTCTCCAGATCGAGAAAC	0.507																																																	0													128	110	116					1																	201789016		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5590G>A	1.37:g.201789016G>A	ENSP00000356265:p.Asp1864Asn		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D1864N	ENST00000367296.4	37	c.5590	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.602495	0.96614	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.08634	3.13;3.07;3.07;3.07;3.13;3.08	5.81	5.81	0.92471	.	0.052871	0.64402	D	0.000001	T	0.17619	0.0423	L	0.33485	1.01	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	P;P	0.56398	0.797;0.797	T	0.00127	-1.2019	10	0.66056	D	0.02	-26.3511	19.6732	0.95918	0.0:0.0:1.0:0.0	.	1470;1861	Q8NEY1-5;Q8NEY1-3	.;.	N	1817;1864;1861;1856;1804;1470;247	ENSP00000356271:D1817N;ENSP00000356265:D1864N;ENSP00000295624:D1861N;ENSP00000356266:D1856N;ENSP00000356269:D1804N;ENSP00000356264:D1470N	ENSP00000295624:D1861N	D	+	1	0	NAV1	200055639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.419000	0.97397	2.745000	0.94114	0.655000	0.94253	GAT	NAV1	-	NULL		0.507	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201789016	1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201789016	G	A	201789016	3	1	153	1	0	0	0	0	1	0	0	0	10206	942	33	1	5765	1	NAV1	1	201789016	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	36086	201789016	47461605	102	26076										
RNPEP	6051	genome.wustl.edu	37	chr1	201970888	201970888	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaaaaagagagtggatatCattccaggtaagcagaggaa	12	4	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201970888C>A	ENST00000295640.4	+	8	1462	c.1419C>A	c.(1417-1419)atC>atA	p.I473I	RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.I434I|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	473					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAGTGGATATCATTCCAGGTA	0.423																																					GBM(19;39 479 7473 13131 19462)												0													89	92	91					1																	201970888		2203	4300	6503	SO:0001819	synonymous_variant	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1419C>A	1.37:g.201970888C>A			Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.I473	ENST00000295640.4	37	c.1419	CCDS1418.1	1																																																																																			RNPEP	-	NULL		0.423	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	C	NM_020216		201970888	1	no_errors	ENST00000295640	ensembl	human	known	70_37	silent	SNP	0.994	A	A	201970888	C	A	201970888	2	1	153	1	0	0	0	0	0	0	0	1	13539	816	29	3		3	RNPEP	1	201970888	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	181872	201970888	47279733	103	26077										
ETNK2	55224	genome.wustl.edu	37	chr1	204110443	204110443	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagggccagagaagccatacCtttgatgctgtcatagatga	11	9	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:204110443C>G	ENST00000367202.4	-	4	934	c.784G>C	c.(784-786)Ggt>Cgt	p.G262R	ETNK2_ENST00000367201.3_Splice_Site_p.G262R|ETNK2_ENST00000367199.2_Splice_Site_p.G193R|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367197.1_5'Flank|RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367198.2_Splice_Site_p.G84R	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	262					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCCATACCTTTGATGCTG	0.542																																																	0													65	66	65					1																	204110443		2203	4300	6503	SO:0001630	splice_region_variant	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.784+1G>C	1.37:g.204110443C>G			B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.G262R	ENST00000367202.4	37	c.784	CCDS1442.2	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395220	0.83011	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.47	5.47	0.80525	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.053488	0.85682	D	0.000000	T	0.72653	0.3487	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.981;0.985;1.0	P;P;D	0.75484	0.846;0.905;0.986	T	0.71148	-0.4677	9	.	.	.	.	17.1027	0.86654	0.0:1.0:0.0:0.0	.	221;262;262	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	R	262;262;193;128;84;128;119;108	ENSP00000356169:G262R;ENSP00000356170:G262R;ENSP00000356167:G193R;ENSP00000356166:G84R;ENSP00000405497:G128R;ENSP00000398091:G119R;ENSP00000406241:G108R	.	G	-	1	0	ETNK2	202377066	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.431000	0.80335	2.569000	0.86673	0.655000	0.94253	GGT	ETNK2	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.542	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1	C	NM_018208	Missense_Mutation	204110443	-1	no_errors	ENST00000367201	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204110443	C	G	204110443	5	3	153	1	0	0	0	0	0	0	1	0	5286	695	24	4	396	4	ETNK2	1	204110443	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2139555	204110443	45140178	104	26078										
LRRN2	10446	genome.wustl.edu	37	chr1	204588748	204588748	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgggtcagctggttctcctCtaggtgcaggctcagcagct	13	13	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:204588748C>G	ENST00000367175.1	-	1	2585	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	LRRN2_ENST00000367176.3_Missense_Mutation_p.E125Q|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.E125Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	125					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E125Q(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTTCTCCTCTAGGTGCAGG	0.602																																																	1	Substitution - Missense(1)	lung(1)											102	105	104					1																	204588748		2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.373G>C	1.37:g.204588748C>G	ENSP00000356143:p.Glu125Gln		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E125Q	ENST00000367175.1	37	c.373	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909486	0.72868	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.24723	1.84;1.84;1.84	5.39	5.39	0.77823	.	0.328198	0.21599	N	0.071967	T	0.37019	0.0988	N	0.12920	0.275	0.51233	D	0.999916	D	0.89917	1.0	D	0.97110	1.0	T	0.37502	-0.9703	10	0.54805	T	0.06	.	18.8335	0.92151	0.0:1.0:0.0:0.0	.	125	O75325	LRRN2_HUMAN	Q	125	ENSP00000356144:E125Q;ENSP00000356145:E125Q;ENSP00000356143:E125Q	ENSP00000356143:E125Q	E	-	1	0	LRRN2	202855371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.816000	0.86201	2.543000	0.85770	0.650000	0.86243	GAG	LRRN2	-	smart_Leu-rich_rpt_typical-subtyp		0.602	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	C	NM_006338		204588748	-1	no_errors	ENST00000367175	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204588748	C	G	204588748	3	3	153	1	0	0	0	0	1	0	0	0	9058	922	32	1	1772	1	LRRN2	1	204588748	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	478305	204588748	44661873	105	26079										
C1orf116	79098	genome.wustl.edu	37	chr1	207196378	207196378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctttttgggacatggcttctGaaggagtctgctctctttcc	10	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:207196378G>A	ENST00000359470.5	-	4	980	c.731C>T	c.(730-732)tCa>tTa	p.S244L	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	244						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CATGGCTTCTGAAGGAGTCTG	0.582																																																	0													218	211	213					1																	207196378		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.731C>T	1.37:g.207196378G>A	ENSP00000352447:p.Ser244Leu		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.S244L	ENST00000359470.5	37	c.731	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313866	0.40996	.	.	ENSG00000182795	ENST00000359470	T	0.09350	2.99	5.03	2.71	0.32032	.	1.642850	0.03062	N	0.155964	T	0.12561	0.0305	L	0.50333	1.59	0.09310	N	0.999997	B	0.14012	0.009	B	0.12156	0.007	T	0.30765	-0.9967	10	0.27785	T	0.31	0.0407	6.1924	0.20532	0.1107:0.0:0.7009:0.1884	.	244	Q9BW04	SARG_HUMAN	L	244	ENSP00000352447:S244L	ENSP00000352447:S244L	S	-	2	0	C1orf116	205263001	0.001000	0.12720	0.010000	0.14722	0.129000	0.20672	0.809000	0.27168	1.067000	0.40740	0.655000	0.94253	TCA	C1orf116	-	NULL		0.582	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	G	NM_024115		207196378	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.000	A	A	207196378	G	A	207196378	3	1	153	1	0	0	0	0	1	0	0	0	1994	1294	45	1	1078	1	C1orf116	1	207196378	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2607630	207196378	42054243	106	26080										
PLXNA2	5362	genome.wustl.edu	37	chr1	208218010	208218010	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgccggccgcgatgctgacGatggctggcagggtcagcaa	16	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:208218010G>A	ENST00000367033.3	-	20	4474	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1239					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGATGCTGACGATGGCTGGCA	0.572																																																	0													71	66	68					1																	208218010		2203	4300	6503	SO:0001819	synonymous_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3717C>T	1.37:g.208218010G>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I1239	ENST00000367033.3	37	c.3717	CCDS31013.1	1																																																																																			PLXNA2	-	NULL		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	G	NM_025179		208218010	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	silent	SNP	0.996	A	A	208218010	G	A	208218010	2	1	153	1	0	0	0	0	0	0	0	1	12144	1048	37	1		1	PLXNA2	1	208218010	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1021632	208218010	41032611	107	26081										
NENF	29937	genome.wustl.edu	37	chr1	212617779	212617779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcctgcagacctcacccatGacactgtgagccagattata	7	13	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:212617779G>A	ENST00000366988.3	+	3	394	c.337G>A	c.(337-339)Gac>Aac	p.D113N	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	113	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTCACCCATGACACTGTGAG	0.478																																																	0													83	74	77					1																	212617779		2203	4300	6503	SO:0001583	missense	29937				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"neudesin"	611874	"neuron derived neurotrophic factor"			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.337G>A	1.37:g.212617779G>A	ENSP00000355955:p.Asp113Asn		A1KYQ8|Q53FZ6|Q5TM90	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.D113N	ENST00000366988.3	37	c.337	CCDS1505.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024475	0.93518	.	.	ENSG00000117691	ENST00000366988	T	0.78246	-1.16	5.2	5.2	0.72013	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.81179	2.53	0.80722	D	1	P	0.39094	0.659	B	0.43658	0.426	D	0.85185	0.1006	10	0.56958	D	0.05	-15.2947	18.7459	0.91792	0.0:0.0:1.0:0.0	.	113	Q9UMX5	NENF_HUMAN	N	113	ENSP00000355955:D113N	ENSP00000355955:D113N	D	+	1	0	NENF	210684402	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.121000	0.94375	2.425000	0.82216	0.603000	0.83216	GAC	NENF	-	pfam_Cyt_B5,superfamily_Cyt_B5		0.478	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NENF	HGNC	protein_coding	OTTHUMT00000089291.1	G	NM_013349		212617779	1	no_errors	ENST00000366988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	212617779	G	A	212617779	3	1	153	1	0	0	0	0	1	0	0	0	10359	1290	45	1	347	1	NENF	1	212617779	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4399769	212617779	36632842	108	26082										
PROX1	5629	genome.wustl.edu	37	chr1	214170276	214170276	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggatatatgcagcaactcttCaagagacagccccccagagt	9	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:214170276C>G	ENST00000366958.4	+	2	1006	c.398C>G	c.(397-399)tCa>tGa	p.S133*	PROX1_ENST00000435016.1_Nonsense_Mutation_p.S133*|PROX1_ENST00000498508.2_Nonsense_Mutation_p.S133*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.S133*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	133					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S133L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCAACTCTTCAAGAGACAGC	0.507																																																	1	Substitution - Missense(1)	lung(1)											87	94	92					1																	214170276		2203	4300	6503	SO:0001587	stop_gained	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.398C>G	1.37:g.214170276C>G	ENSP00000355925:p.Ser133*		A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.S133*	ENST00000366958.4	37	c.398	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.459572	0.99409	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-2.0273	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000261454:S133X	S	+	2	0	PROX1	212236899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.780000	0.95670	0.655000	0.94253	TCA	PROX1	-	pfam_Prox1		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	C	NM_002763		214170276	1	no_errors	ENST00000261454	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	214170276	C	G	214170276	4	3	153	1	0	0	0	0	0	1	0	0	12587	838	29	1	400	1	PROX1	1	214170276	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1552497	214170276	35080345	109	26083										
USH2A	7399	genome.wustl.edu	37	chr1	215963499	215963499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctggctctttggaataagttCagtctcacagcattttactg	8	9	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:215963499C>T	ENST00000307340.3	-	51	10470	c.10084G>A	c.(10084-10086)Gaa>Aaa	p.E3362K	USH2A_ENST00000366943.2_Missense_Mutation_p.E3362K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3362					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAATAAGTTCAGTCTCACAG	0.388										HNSCC(13;0.011)																																							0													133	127	129					1																	215963499		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10084G>A	1.37:g.215963499C>T	ENSP00000305941:p.Glu3362Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E3362K	ENST00000307340.3	37	c.10084	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855133	0.71719	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13089	2.63;2.62	5.76	5.76	0.90799	Fibronectin, type III (2);	0.000000	0.46145	D	0.000308	T	0.23054	0.0557	M	0.78916	2.43	0.42425	D	0.992658	P	0.38788	0.647	B	0.35470	0.203	T	0.04693	-1.0933	10	0.72032	D	0.01	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	3362	O75445	USH2A_HUMAN	K	3362	ENSP00000305941:E3362K;ENSP00000355910:E3362K	ENSP00000305941:E3362K	E	-	1	0	USH2A	214030122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.386000	0.52492	2.713000	0.92767	0.655000	0.94253	GAA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215963499	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215963499	C	T	215963499	3	4	153	1	0	0	0	0	1	0	0	0	17067	835	29	1	5612	1	USH2A	1	215963499	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1793223	215963499	33287122	110	26084										
USH2A	7399	genome.wustl.edu	37	chr1	216166366	216166366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaagagttcacttaccattCggatattcaggctcagtcca	7	10	3	1	rs375235470		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:216166366C>T	ENST00000307340.3	-	35	7187	c.6801G>A	c.(6799-6801)ccG>ccA	p.P2267P	USH2A_ENST00000366943.2_Silent_p.P2267P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2267	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTACCATTCGGATATTCAG	0.413										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	238	253	248		6801	4.2	1	1		248	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	USH2A	NM_206933.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		2267/5203	216166366	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6801G>A	1.37:g.216166366C>T		2234	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P2267	ENST00000307340.3	37	c.6801	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216166366	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	1.000	T	T	216166366	C	T	216166366	2	4	153	1	0	0	0	0	0	0	0	1	17067	871	31	1		1	USH2A	1	216166366	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	202867	216166366	33084255	111	26085										
USH2A	7399	genome.wustl.edu	37	chr1	216462663	216462663	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttctagtgccaactgtatCacagtcacagggtttgcaaa	8	9	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:216462663C>G	ENST00000307340.3	-	11	2316	c.1930G>C	c.(1930-1932)Gat>Cat	p.D644H	USH2A_ENST00000366942.3_Missense_Mutation_p.D644H|USH2A_ENST00000366943.2_Missense_Mutation_p.D644H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	644	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.		D -> V (in dbSNP:rs1805048). {ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAACTGTATCACAGTCACAG	0.433										HNSCC(13;0.011)																																							0													171	149	157					1																	216462663		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1930G>C	1.37:g.216462663C>G	ENSP00000305941:p.Asp644His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D644H	ENST00000307340.3	37	c.1930	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963748	0.18583	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62941	-0.01;-0.01;-0.01	5.43	3.43	0.39272	EGF-like, laminin (3);	0.350840	0.20317	N	0.094708	T	0.48804	0.1520	N	0.25286	0.73	0.29862	N	0.82759	B;P	0.45634	0.066;0.863	B;P	0.50405	0.03;0.64	T	0.42137	-0.9469	10	0.16896	T	0.51	.	3.5487	0.07837	0.2915:0.435:0.0:0.2736	.	644;644	O75445-2;O75445	.;USH2A_HUMAN	H	644	ENSP00000305941:D644H;ENSP00000355910:D644H;ENSP00000355909:D644H	ENSP00000305941:D644H	D	-	1	0	USH2A	214529286	0.660000	0.27420	0.674000	0.29902	0.684000	0.39900	-0.010000	0.12743	1.401000	0.46761	0.557000	0.71058	GAT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216462663	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.995	G	G	216462663	C	G	216462663	3	3	153	1	0	0	0	0	1	0	0	0	17067	826	29	1	13940	1	USH2A	1	216462663	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	296297	216462663	32787958	112	26086										
MARK1	4139	genome.wustl.edu	37	chr1	220804457	220804457	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgagcctgatccggatttCaatgacacaaaaagaatagg	9	8	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:220804457C>T	ENST00000366917.4	+	10	1256	c.990C>T	c.(988-990)ttC>ttT	p.F330F	MARK1_ENST00000402574.1_Silent_p.F195F|MARK1_ENST00000366918.4_Silent_p.F308F					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATCCGGATTTCAATGACACAA	0.363																																																	0													99	95	97					1																	220804457		2203	4300	6503	SO:0001819	synonymous_variant	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.990C>T	1.37:g.220804457C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F330	ENST00000366917.4	37	c.990	CCDS31029.2	1																																																																																			MARK1	-	pfscan_UBA/transl_elong_EF1B_N_euk		0.363	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	C			220804457	1	no_errors	ENST00000366917	ensembl	human	known	70_37	silent	SNP	1.000	T	T	220804457	C	T	220804457	2	4	153	1	0	0	0	0	0	0	0	1	9335	825	29	1		1	MARK1	1	220804457	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4341794	220804457	28446164	113	26087										
HLX	3142	genome.wustl.edu	37	chr1	221053402	221053402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagggcctggcaggggcctCggccgccgccctcaccgcgc	17	18	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:221053402C>T	ENST00000366903.6	+	1	1704	c.203C>T	c.(202-204)tCg>tTg	p.S68L	HLX_ENST00000549319.1_5'Flank|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	68					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S68L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAGGGGCCTCGGCCGCCGCC	0.731																																																	1	Substitution - Missense(1)	lung(1)											5	6	6					1																	221053402		1769	3782	5551	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.203C>T	1.37:g.221053402C>T	ENSP00000355870:p.Ser68Leu		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S68L	ENST00000366903.6	37	c.203	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925193	0.92319	.	.	ENSG00000136630	ENST00000366903	T	0.35421	1.31	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000073	T	0.41789	0.1174	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.31752	-0.9932	10	0.56958	D	0.05	-13.5171	15.3861	0.74703	0.0:1.0:0.0:0.0	.	68	Q14774	HLX_HUMAN	L	68	ENSP00000355870:S68L	ENSP00000355870:S68L	S	+	2	0	HLX	219120025	0.998000	0.40836	0.999000	0.59377	0.782000	0.44232	3.945000	0.56637	2.570000	0.86706	0.585000	0.79938	TCG	HLX	-	NULL		0.731	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	C	NM_021958		221053402	1	no_errors	ENST00000366903	ensembl	human	known	70_37	missense	SNP	0.998	T	T	221053402	C	T	221053402	3	4	153	1	0	0	0	0	1	0	0	0	7236	893	31	1	205	1	HLX	1	221053402	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	248945	221053402	28197219	114	26088										
LBR	3930	genome.wustl.edu	37	chr1	225600261	225600261	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggccgcaagtgcaaactgaaGaaaatgactgtacacgtaat	10	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:225600261G>C	ENST00000338179.2	-	8	1104	c.979C>G	c.(979-981)Ctt>Gtt	p.L327V	LBR_ENST00000272163.4_Missense_Mutation_p.L327V|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	327					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCAAACTGAAGAAAATGACTG	0.448																																																	0													80	82	81					1																	225600261		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.979C>G	1.37:g.225600261G>C	ENSP00000339883:p.Leu327Val		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.L327V	ENST00000338179.2	37	c.979	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303727	0.23736	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97505	-4.41;-4.41	6.06	3.12	0.35913	.	0.127896	0.52532	D	0.000063	D	0.93442	0.7908	L	0.43757	1.38	0.38072	D	0.936411	B	0.27068	0.167	B	0.36186	0.219	D	0.86915	0.2063	10	0.20519	T	0.43	-17.2825	2.8292	0.05495	0.1381:0.212:0.4731:0.1768	.	327	Q14739	LBR_HUMAN	V	327	ENSP00000272163:L327V;ENSP00000339883:L327V	ENSP00000272163:L327V	L	-	1	0	LBR	223666884	0.989000	0.36119	0.749000	0.31150	0.392000	0.30506	0.166000	0.16583	0.908000	0.36671	0.650000	0.86243	CTT	LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.448	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225600261	-1	no_errors	ENST00000272163	ensembl	human	known	70_37	missense	SNP	0.929	C	C	225600261	G	C	225600261	3	2	153	1	0	0	0	0	1	0	0	0	8672	942	33	1	896	1	LBR	1	225600261	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4546859	225600261	23650360	115	26089										
ENAH	55740	genome.wustl.edu	37	chr1	225706921	225706921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcacttgatattctgcgctCtctctcccattccagctgtt	6	14	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:225706921C>T	ENST00000366844.3	-	5	1232	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ENAH_ENST00000284563.6_Missense_Mutation_p.E280K|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.E261K	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	261					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ATTCTGCGCTCTCTCTCCCAT	0.453																																																	0													266	264	264					1																	225706921		2203	4300	6503	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.781G>A	1.37:g.225706921C>T	ENSP00000355809:p.Glu261Lys		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.E261K	ENST00000366844.3	37	c.781	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421085	0.83559	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.38240	1.15;1.15;1.15	5.35	5.35	0.76521	.	0.279327	0.34223	N	0.004147	T	0.49133	0.1539	L	0.29908	0.895	0.48762	D	0.999707	D;D	0.71674	0.998;0.996	D;P	0.66084	0.941;0.874	T	0.49588	-0.8924	10	0.56958	D	0.05	-14.7883	19.0667	0.93114	0.0:1.0:0.0:0.0	.	261;261	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	261;261;280;260	ENSP00000355809:E261K;ENSP00000355808:E261K;ENSP00000284563:E280K	ENSP00000284563:E280K	E	-	1	0	ENAH	223773544	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	6.608000	0.74168	2.491000	0.84063	0.650000	0.86243	GAG	ENAH	-	NULL		0.453	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225706921	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	missense	SNP	1.000	T	T	225706921	C	T	225706921	3	4	153	1	0	0	0	0	1	0	0	0	5123	922	32	1	1038	1	ENAH	1	225706921	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	106660	225706921	23543700	116	26090										
LIN9	286826	genome.wustl.edu	37	chr1	226465515	226465515	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaccagaggcaaaggaatttCatctgggagatctttgaatt	10	6	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:226465515C>T	ENST00000328205.5	-	7	1236	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	LIN9_ENST00000366801.1_Missense_Mutation_p.E180K|LIN9_ENST00000481685.1_Missense_Mutation_p.E196K	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	215	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAAGGAATTTCATCTGGGAGA	0.343																																					Ovarian(197;1696 2974 11248 14117)												0													124	128	127					1																	226465515		2203	4300	6503	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.691G>A	1.37:g.226465515C>T	ENSP00000329102:p.Glu231Lys		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.E231K	ENST00000328205.5	37	c.691	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760235	0.89932	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	L	0.43646	1.37	0.80722	D	1	D;P;D	0.54964	0.961;0.875;0.969	P;P;P	0.57101	0.813;0.591;0.793	T	0.68104	-0.5497	9	0.44086	T	0.13	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	196;215;365	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	K	191;231;286;180;196;365	.	ENSP00000329102:E231K	E	-	1	0	LIN9	224532138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	GAA	LIN9	-	pfam_DIRP		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226465515	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	T	T	226465515	C	T	226465515	3	4	153	1	0	0	0	0	1	0	0	0	8834	835	29	1	1021	1	LIN9	1	226465515	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	758594	226465515	22785106	117	26091										
GUK1	2987	genome.wustl.edu	37	chr1	228336139	228336139	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaccaggcctacgcagagctGaaggaggcgctctctgaggt	15	11	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228336139G>C	ENST00000366718.1	+	7	970	c.543G>C	c.(541-543)ctG>ctC	p.L181L	GUK1_ENST00000366721.1_Silent_p.L183L|GUK1_ENST00000366726.1_Silent_p.L181L|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366723.1_Nonstop_Mutation_p.*219S|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366730.1_Silent_p.L181L|GUK1_ENST00000391865.3_Silent_p.L202L|GUK1_ENST00000366716.1_Silent_p.L181L|GUK1_ENST00000312726.4_Silent_p.L181L|GUK1_ENST00000366722.1_Silent_p.L179L|GUK1_ENST00000366728.2_Intron	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	181	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				ACGCAGAGCTGAAGGAGGCGC	0.637																																																	0													45	43	44					1																	228336139		2203	4300	6503	SO:0001819	synonymous_variant	2987			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.543G>C	1.37:g.228336139G>C			B1ANH1	Nonstop_Mutation	SNP	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub	p.*219S	ENST00000366718.1	37	c.656	CCDS1568.1	1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.634126	0.29068	.	.	ENSG00000143774	ENST00000366723	.	.	.	4.52	0.36	0.16097	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0389	0.25008	0.1523:0.2655:0.5823:0.0	.	.	.	.	S	219	.	.	X	+	2	2	GUK1	226402762	1.000000	0.71417	0.433000	0.26760	0.592000	0.36648	1.163000	0.31798	-0.086000	0.12550	0.298000	0.19748	TGA	GUK1	-	NULL		0.637	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	G	NM_000858		228336139	1	no_errors	ENST00000366723	ensembl	human	known	70_37	nonstop	SNP	0.889	C	C	228336139	G	C	228336139	2	2	153	1	0	0	0	0	0	0	0	1	6920	1277	45	1		1	GUK1	1	228336139	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1870624	228336139	20914482	118	26092										
TRIM17	51127	genome.wustl.edu	37	chr1	228596204	228596204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggggcacttggggaccctgtCtttccggctcacgttgtccc	13	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228596204C>A	ENST00000366697.2	-	6	2088	c.1132G>T	c.(1132-1134)Gac>Tac	p.D378Y	TRIM17_ENST00000366698.2_Missense_Mutation_p.D378Y|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.D378Y|TRIM11_ENST00000284551.6_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000493030.2_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	378	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGGACCCTGTCTTTCCGGCTC	0.617																																																	0													72	81	78					1																	228596204		2203	4300	6503	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1132G>T	1.37:g.228596204C>A	ENSP00000355658:p.Asp378Tyr		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D378Y	ENST00000366697.2	37	c.1132	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535954	0.45176	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.61742	0.08;0.08;0.08	4.71	2.67	0.31697	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.269718	0.26485	N	0.024105	T	0.55625	0.1932	L	0.41492	1.28	0.80722	D	1	D	0.54397	0.966	P	0.55161	0.77	T	0.57063	-0.7875	10	0.72032	D	0.01	.	5.8623	0.18754	0.0:0.7001:0.1956:0.1043	.	378	Q9Y577	TRI17_HUMAN	Y	378	ENSP00000355658:D378Y;ENSP00000355659:D378Y;ENSP00000295033:D378Y	ENSP00000295033:D378Y	D	-	1	0	TRIM17	226662827	0.603000	0.26924	0.855000	0.33649	0.094000	0.18550	2.582000	0.46085	1.286000	0.44565	0.655000	0.94253	GAC	TRIM17	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.617	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	C	NM_016102		228596204	-1	no_errors	ENST00000295033	ensembl	human	known	70_37	missense	SNP	0.995	A	A	228596204	C	A	228596204	3	1	153	1	0	0	0	0	1	0	0	0	16524	913	32	3	305	3	TRIM17	1	228596204	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	260065	228596204	20654417	119	26093										
HIST3H2A	92815	genome.wustl.edu	37	chr1	228645397	228645397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccggcgcccacgcgctccGaatagttgcccttgcggagc	13	17	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228645397G>C	ENST00000366695.2	-	1	163	c.122C>G	c.(121-123)tCg>tGg	p.S41W	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	41					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CACGCGCTCCGAATAGTTGCC	0.716																																																	0													16	20	19					1																	228645397		2196	4295	6491	SO:0001583	missense	92815			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.122C>G	1.37:g.228645397G>C	ENSP00000355656:p.Ser41Trp		B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S41W	ENST00000366695.2	37	c.122	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433084	0.25813	.	.	ENSG00000181218	ENST00000366695	T	0.69561	-0.41	4.07	3.13	0.36017	Histone-fold (2);Histone core (1);Histone H2A (1);	0.176181	0.27500	N	0.019083	T	0.82185	0.4982	M	0.87097	2.86	0.35214	D	0.775436	D	0.89917	1.0	D	0.83275	0.996	D	0.88343	0.2976	10	0.87932	D	0	.	11.8956	0.52654	0.0:0.1781:0.8219:0.0	.	41	Q7L7L0	H2A3_HUMAN	W	41	ENSP00000355656:S41W	ENSP00000355656:S41W	S	-	2	0	HIST3H2A	226712020	1.000000	0.71417	0.028000	0.17463	0.132000	0.20833	5.869000	0.69613	1.253000	0.44018	0.655000	0.94253	TCG	HIST3H2A	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A		0.716	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	HGNC	protein_coding	OTTHUMT00000096598.1	G	NM_033445		228645397	-1	no_errors	ENST00000366695	ensembl	human	known	70_37	missense	SNP	0.403	C	C	228645397	G	C	228645397	3	2	153	1	0	0	0	0	1	0	0	0	7202	1059	37	1	274	1	HIST3H2A	1	228645397	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	49193	228645397	20605224	120	26094										
KIAA1383	54627	genome.wustl.edu	37	chr1	232943202	232943202	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaaatagatattagacaggtCaaaaccacagataatgacat	7	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:232943202C>G	ENST00000418460.1	+	1	2560	c.2433C>G	c.(2431-2433)gtC>gtG	p.V811V		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	669	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTAGACAGGTCAAAACCACAG	0.353																																																	0													64	66	65					1																	232943202		1849	4090	5939	SO:0001819	synonymous_variant	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2433C>G	1.37:g.232943202C>G			A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	NULL	p.V811	ENST00000418460.1	37	c.2433	CCDS44334.1	1																																																																																			KIAA1383	-	NULL		0.353	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	C	NM_019090		232943202	1	no_errors	ENST00000418460	ensembl	human	known	70_37	silent	SNP	0.000	G	G	232943202	C	G	232943202	2	3	153	1	0	0	0	0	0	0	0	1	8248	813	29	1		1	KIAA1383	1	232943202	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4297805	232943202	16307419	121	26095										
ARID4B	51742	genome.wustl.edu	37	chr1	235345845	235345845	+	Frame_Shift_Del	DEL	C	C	-													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttttttgtgacttcatcttCttcataatcagtatcttcgg							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:235345845delC	ENST00000264183.3	-	20	2886	c.2389delG	c.(2389-2391)gaafs	p.E797fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.E711fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.E797fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	797					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTTCATCTTCTTCATAATCA	0.328																																																	0													144	126	132					1																	235345845		2203	4300	6503	SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2389delG	1.37:g.235345845delC	ENSP00000264183:p.Glu797fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E797fs	ENST00000264183.3	37	c.2389	CCDS31061.1	1																																																																																			ARID4B	-	NULL		0.328	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235345845	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-	-	235345845	C	-	235345845	7	5	153	1	0	1	0	1	0	0	0	0	920	922	32	0	1569	0	ARID4B	1	235345845	Frame_Shift_Del	DEL	C	TCGA-IR-A3LK-01A-12D-A20U-09	2402643	235345845	13904776	122	26096	152	2								
ARID4B	51742	genome.wustl.edu	37	chr1	235345848	235345848	+	Nonsense_Mutation	SNP	C	C	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttgtgacttcatcttcttCataatcagtatcttcggata							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:235345848C>A	ENST00000264183.3	-	20	2883	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E710*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E796*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	796					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCATCTTCTTCATAATCAGTA	0.323																																																	0													139	123	128					1																	235345848		2203	4300	6503	SO:0001587	stop_gained	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2386G>T	1.37:g.235345848C>A	ENSP00000264183:p.Glu796*		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E796*	ENST00000264183.3	37	c.2386	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.025856|5.025856	0.93518|0.93518	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.384603|.	0.29830|.	N|.	0.011092|.	.|T	.|0.80358	.|0.4608	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77830	.|-0.2442	.|3	0.06891|.	T|.	0.86|.	-9.5314|-9.5314	20.3018|20.3018	0.98617|0.98617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	796;710;796;796|195	.|.	ENSP00000264183:E796X|.	E|M	-|-	1|3	0|0	ARID4B|ARID4B	233412471|233412471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.359000|5.359000	0.66074|0.66074	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GAA|ATG	ARID4B	-	NULL		0.323	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235345848	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	235345848	C	A	235345848	4	1	153	1	0	0	0	0	0	1	0	0	920	835	29	3	1572	3	ARID4B	1	235345848	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3	235345848	13904773	123	26097	152	2								
ARID4B	51742	genome.wustl.edu	37	chr1	235392695	235392695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgaaattcaagtgcctgttCaaaggctggaaacagaccac	10	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:235392695C>G	ENST00000264183.3	-	11	1245	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	ARID4B_ENST00000349213.3_Missense_Mutation_p.E250Q|ARID4B_ENST00000366603.2_Missense_Mutation_p.E250Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	250					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGTGCCTGTTCAAAGGCTGGA	0.358																																																	0													76	71	73					1																	235392695		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.748G>C	1.37:g.235392695C>G	ENSP00000264183:p.Glu250Gln		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E250Q	ENST00000264183.3	37	c.748	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345060	0.24426	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.81	5.81	0.92471	RBB1NT (1);	0.043911	0.85682	D	0.000000	T	0.52306	0.1726	N	0.04880	-0.145	0.41740	D	0.989609	B;B;B;B	0.20459	0.039;0.005;0.045;0.006	B;B;B;B	0.28465	0.043;0.016;0.09;0.034	T	0.52449	-0.8574	10	0.06236	T	0.91	-13.3565	20.0763	0.97746	0.0:1.0:0.0:0.0	.	250;250;250;250	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	Q	250	ENSP00000264184:E250Q;ENSP00000355562:E250Q;ENSP00000264183:E250Q;ENSP00000391497:E250Q	ENSP00000264183:E250Q	E	-	1	0	ARID4B	233459318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.321000	0.72881	2.756000	0.94617	0.655000	0.94253	GAA	ARID4B	-	pfam_RBB1NT		0.358	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235392695	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	1.000	G	G	235392695	C	G	235392695	3	3	153	1	0	0	0	0	1	0	0	0	920	835	29	1	3246	1	ARID4B	1	235392695	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	46847	235392695	13857926	124	26098										
WDR64	128025	genome.wustl.edu	37	chr1	241834403	241834403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatacttctcctctgaagaaGatcctattgcttcccagttg	7	11	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:241834403G>T	ENST00000366552.2	+	3	511	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	WDR64_ENST00000461971.1_3'UTR|WDR64_ENST00000437684.2_Missense_Mutation_p.D102Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	102										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCTGAAGAAGATCCTATTGC	0.348																																																	0													212	172	185					1																	241834403		692	1591	2283	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.304G>T	1.37:g.241834403G>T	ENSP00000355510:p.Asp102Tyr		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D102Y	ENST00000366552.2	37	c.304		1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429592	0.43122	.	.	ENSG00000162843	ENST00000366552;ENST00000437684	T;T	0.40476	1.17;1.03	5.07	5.07	0.68467	.	0.093878	0.46758	D	0.000269	T	0.55847	0.1946	L	0.59436	1.845	0.40758	D	0.982977	.	.	.	.	.	.	T	0.59883	-0.7370	8	0.72032	D	0.01	-15.5813	15.7336	0.77825	0.0:0.0:1.0:0.0	.	.	.	.	Y	102	ENSP00000355510:D102Y;ENSP00000402446:D102Y	ENSP00000355510:D102Y	D	+	1	0	WDR64	239901026	0.999000	0.42202	0.993000	0.49108	0.158000	0.22134	5.463000	0.66712	2.511000	0.84671	0.655000	0.94253	GAT	WDR64	-	NULL		0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		G	NM_144625		241834403	1	no_errors	ENST00000366552	ensembl	human	known	70_37	missense	SNP	1.000	T	T	241834403	G	T	241834403	3	4	153	1	0	0	0	0	1	0	0	0	17346	942	33	3	314	3	WDR64	1	241834403	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6441708	241834403	7416218	125	26099										
CEP170	9859	genome.wustl.edu	37	chr1	243354474	243354474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgtttgaatccccagcaaGtcttgagttccaggagaaga	10	10	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:243354474G>C	ENST00000366542.1	-	8	1005	c.954C>G	c.(952-954)gaC>gaG	p.D318E	CEP170_ENST00000366544.1_Missense_Mutation_p.D318E|CEP170_ENST00000366543.1_Missense_Mutation_p.D318E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	318						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCCCCAGCAAGTCTTGAGTTC	0.458																																																	0													53	48	49					1																	243354474		1831	4075	5906	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.954C>G	1.37:g.243354474G>C	ENSP00000355500:p.Asp318Glu		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.D318E	ENST00000366542.1	37	c.954	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618454|3.618454	0.66787|0.66787	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.46819|.	0.86;0.9;0.9|.	4.91|4.91	3.98|3.98	0.46160|0.46160	.|.	0.051328|.	0.85682|.	D|.	0.000000|.	T|T	0.51907|0.51907	0.1702|0.1702	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	P;B;P|.	0.46220|.	0.645;0.355;0.874|.	P;P;P|.	0.53722|.	0.733;0.479;0.493|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.29301|.	T|.	0.29|.	-11.5487|-11.5487	8.6529|8.6529	0.34046|0.34046	0.2295:0.0:0.7705:0.0|0.2295:0.0:0.7705:0.0	.|.	318;318;318|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	E|S	318;318;318;216|220	ENSP00000355500:D318E;ENSP00000355502:D318E;ENSP00000355501:D318E|.	ENSP00000355500:D318E|.	D|T	-|-	3|2	2|0	CEP170|CEP170	241421097|241421097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.306000|1.306000	0.33505|0.33505	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	GAC|ACT	CEP170	-	NULL		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243354474	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	C	C	243354474	G	C	243354474	3	2	153	1	0	0	0	0	1	0	0	0	3255	1020	36	4	3882	4	CEP170	1	243354474	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1520071	243354474	5896147	126	26100										
KIF26B	55083	genome.wustl.edu	37	chr1	245530223	245530223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgaccgggacaaccgctgtGacatttgcgccactcacctg	10	15	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:245530223G>C	ENST00000407071.2	+	3	993	c.553G>C	c.(553-555)Gac>Cac	p.D185H	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	185					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAACCGCTGTGACATTTGCGC	0.592																																																	0													55	58	57					1																	245530223		2182	4265	6447	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.553G>C	1.37:g.245530223G>C	ENSP00000385545:p.Asp185His		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D185H	ENST00000407071.2	37	c.553	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.941028	0.73557	.	.	ENSG00000162849	ENST00000407071	D	0.82803	-1.65	5.44	5.44	0.79542	.	.	.	.	.	D	0.90940	0.7152	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.91377	0.5124	9	0.87932	D	0	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	185	Q2KJY2	KI26B_HUMAN	H	185	ENSP00000385545:D185H	ENSP00000385545:D185H	D	+	1	0	KIF26B	243596846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.712000	0.92718	0.650000	0.86243	GAC	KIF26B	-	NULL		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245530223	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	C	C	245530223	G	C	245530223	3	2	153	1	0	0	0	0	1	0	0	0	8315	1290	45	1	563	1	KIF26B	1	245530223	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2175749	245530223	3720398	127	26101										
ZNF669	79862	genome.wustl.edu	37	chr1	247265330	247265330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggtttcctgcatcacttctCtgtagagattcttctgagaa	8	9	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:247265330C>G	ENST00000343381.6	-	2	519	c.347G>C	c.(346-348)aGa>aCa	p.R116T	ZNF669_ENST00000366501.1_Missense_Mutation_p.R30T|ZNF669_ENST00000366500.1_Missense_Mutation_p.R30T|ZNF669_ENST00000448299.2_Missense_Mutation_p.R30T|ZNF669_ENST00000358785.4_Missense_Mutation_p.R116T	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	116	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATCACTTCTCTGTAGAGATT	0.438																																																	0													89	88	88					1																	247265330		2203	4300	6503	SO:0001583	missense	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.347G>C	1.37:g.247265330C>G	ENSP00000342818:p.Arg116Thr		B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R116T	ENST00000343381.6	37	c.347	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342415	0.24339	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000358785;ENST00000343381;ENST00000366501;ENST00000366500;ENST00000476158	T;T;T;T;T;T	0.02709	4.19;4.19;4.19;4.19;4.19;4.19	1.08	1.08	0.20341	Krueppel-associated box (4);	.	.	.	.	T	0.16514	0.0397	H	0.94306	3.52	0.30879	N	0.731629	D;D	0.62365	0.991;0.985	D;D	0.76071	0.987;0.966	T	0.06285	-1.0835	9	0.87932	D	0	.	3.4643	0.07544	0.0:0.7092:0.0:0.2908	.	30;116	B3KP94;Q96BR6	.;ZN669_HUMAN	T	30;30;116;116;30;30;116	ENSP00000404370:R30T;ENSP00000351636:R116T;ENSP00000342818:R116T;ENSP00000355457:R30T;ENSP00000355456:R30T;ENSP00000429550:R116T	ENSP00000342818:R116T	R	-	2	0	ZNF669	245331953	0.004000	0.15560	0.373000	0.26003	0.380000	0.30137	1.131000	0.31406	0.543000	0.28864	0.289000	0.19496	AGA	ZNF669	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	C	NM_024804		247265330	-1	no_errors	ENST00000343381	ensembl	human	known	70_37	missense	SNP	0.996	G	G	247265330	C	G	247265330	3	3	153	1	0	0	0	0	1	0	0	0	18106	913	32	1	1059	1	ZNF669	1	247265330	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1735107	247265330	1985291	128	26102										
OR2T6	254879	genome.wustl.edu	37	chr1	248551419	248551419	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgagtctcccgttctgtgcCtctcaccaaatcaatcactt	5	14	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:248551419C>G	ENST00000355728.2	+	1	510	c.510C>G	c.(508-510)gcC>gcG	p.A170A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTTCTGTGCCTCTCACCAAA	0.547																																																	0													116	105	109					1																	248551419		2203	4300	6503	SO:0001819	synonymous_variant	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.510C>G	1.37:g.248551419C>G			A6NE36	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A170	ENST00000355728.2	37	c.510	CCDS31114.1	1																																																																																			OR2T6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	C	NM_001005471		248551419	1	no_errors	ENST00000355728	ensembl	human	known	70_37	silent	SNP	0.000	G	G	248551419	C	G	248551419	2	3	153	1	0	0	0	0	0	0	0	1	11053	668	24	4		4	OR2T6	1	248551419	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1286089	248551419	699202	129	26103										
ZNF692	55657	genome.wustl.edu	37	chr1	249151477	249151477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctcggaacaccaacttctcCgagtagtatgtggaagggag	12	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:249151477C>T	ENST00000306601.4	-	4	597	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000451251.1_Missense_Mutation_p.R149Q|AL672294.1_ENST00000417047.1_RNA	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547																																																	0													91	93	92					1																	249151477		2203	4300	6503	SO:0001583	missense	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.431G>A	1.37:g.249151477C>T	ENSP00000305483:p.Arg144Gln		B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R149Q	ENST00000306601.4	37	c.446	CCDS31127.1	1	.	.	.	.	.	.	.	.	.	.	C	7.614	0.675437	0.14841	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.06608	3.3;3.3;3.3;3.29;3.28	4.12	-8.1	0.01086	.	2.038600	0.02199	N	0.062121	T	0.04363	0.0120	L	0.36672	1.1	0.09310	N	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36237	-0.9756	10	0.14252	T	0.57	0.0011	4.5257	0.11980	0.1096:0.1666:0.1088:0.615	.	149;144;144	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	Q	144;144;144;144;149	ENSP00000305483:R144Q;ENSP00000390044:R144Q;ENSP00000355427:R144Q;ENSP00000355425:R144Q;ENSP00000391200:R149Q	ENSP00000305483:R144Q	R	-	2	0	ZNF692	247118100	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.029000	0.01430	-1.989000	0.00979	-0.810000	0.03169	CGG	ZNF692	-	NULL		0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	C	NM_017865		249151477	-1	no_errors	ENST00000451251	ensembl	human	known	70_37	missense	SNP	0.000	T	T	249151477	C	T	249151477	3	4	153	1	0	0	0	0	1	0	0	0	18127	652	23	2	1164	2	ZNF692	1	249151477	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	600058	249151477	99144	130	26104										
NOL10	79954	genome.wustl.edu	37	chr2	10815997	10815997	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaacccgaggtttatatgttCctacaaaaaattaatgtgat	7	6	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:10815997C>T	ENST00000381685.5	-	4	317	c.212G>A	c.(211-213)gGa>gAa	p.G71E	NOL10_ENST00000345985.3_Splice_Site_p.G71E|NOL10_ENST00000538384.1_Intron|NOL10_ENST00000542668.1_Splice_Site_p.G21E	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	71						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTATATGTTCCTACAAAAAA	0.333																																																	0													52	50	51					2																	10815997		2202	4297	6499	SO:0001630	splice_region_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.212-1G>A	2.37:g.10815997C>T			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.G71E	ENST00000381685.5	37	c.212	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	31	5.101857	0.94245	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668	T;T;T	0.75050	1.72;2.31;-0.9	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93073	0.6484	10	0.87932	D	0	.	19.7416	0.96232	0.0:1.0:0.0:0.0	.	71;71	Q9BSC4;Q9BSC4-2	NOL10_HUMAN;.	E	71;71;21	ENSP00000263837:G71E;ENSP00000371101:G71E;ENSP00000437625:G21E	ENSP00000263837:G71E	G	-	2	0	NOL10	10733448	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.400000	0.79949	2.688000	0.91661	0.655000	0.94253	GGA	NOL10	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.333	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	C	NM_024894	Missense_Mutation	10815997	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10815997	C	T	10815997	5	4	153	1	0	0	0	0	0	0	1	0	10544	869	30	1	1926	1	NOL10	2	10815997	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		10815997	232383376	131	26105										
ROCK2	9475	genome.wustl.edu	37	chr2	11356289	11356289	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggggcaactttacctcctCttctagctcctttgctgttt	8	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:11356289C>G	ENST00000315872.6	-	13	1904	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.E243Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	486	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTACCTCCTCTTCTAGCTCC	0.323																																																	0													91	87	88					2																	11356289		1799	4066	5865	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1456G>C	2.37:g.11356289C>G	ENSP00000317985:p.Glu486Gln		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E486Q	ENST00000315872.6	37	c.1456	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559922	0.65538	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	D;D	0.83914	-1.78;-1.78	5.67	5.67	0.87782	.	0.048392	0.85682	D	0.000000	D	0.84538	0.5494	M	0.65498	2.005	0.50632	D	0.999881	B	0.28605	0.217	B	0.36186	0.219	T	0.80228	-0.1469	10	0.25751	T	0.34	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	486	O75116	ROCK2_HUMAN	Q	486;243	ENSP00000317985:E486Q;ENSP00000385509:E243Q	ENSP00000317985:E486Q	E	-	1	0	ROCK2	11273740	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.953000	0.49105	2.679000	0.91253	0.591000	0.81541	GAG	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin		0.323	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	C			11356289	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11356289	C	G	11356289	3	3	153	1	0	0	0	0	1	0	0	0	13548	922	32	1	2794	1	ROCK2	2	11356289	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	540292	11356289	231843084	132	26106										
DDX1	1653	genome.wustl.edu	37	chr2	15769775	15769775	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaagggtgttataacacaaGactcaaggaagatggaggct	12	5	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:15769775G>A	ENST00000381341.2	+	25	2314	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	DDX1_ENST00000233084.3_Missense_Mutation_p.R642K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	642	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TATAACACAAGACTCAAGGAA	0.373																																																	0													105	92	97					2																	15769775		2203	4300	6503	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1925G>A	2.37:g.15769775G>A	ENSP00000370745:p.Arg642Lys		B4DME8|B4DPN6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R642K	ENST00000381341.2	37	c.1925	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711045	0.30322	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	T;T	0.38401	1.14;1.14	5.65	5.65	0.86999	Helicase, C-terminal (1);	0.040050	0.85682	D	0.000000	T	0.17959	0.0431	N	0.03967	-0.31	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.16100	-1.0414	10	0.02654	T	1	-30.9391	19.9142	0.97043	0.0:0.0:1.0:0.0	.	642	Q92499	DDX1_HUMAN	K	642	ENSP00000370745:R642K;ENSP00000233084:R642K	ENSP00000233084:R642K	R	+	2	0	DDX1	15687226	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	4.586000	0.60984	2.941000	0.99782	0.655000	0.94253	AGA	DDX1	-	pfscan_Helicase_C		0.373	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2	G	NM_004939		15769775	1	no_errors	ENST00000233084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15769775	G	A	15769775	3	1	153	1	0	0	0	0	1	0	0	0	4346	942	33	1	2019	1	DDX1	2	15769775	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4413486	15769775	227429598	133	26107										
WDR35	57539	genome.wustl.edu	37	chr2	20114024	20114024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggatgatgtcttcatagtCtttcaggtgaagagctaaga	12	5	4	4	rs200760434		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20114024C>G	ENST00000345530.3	-	27	3284	c.3169G>C	c.(3169-3171)Gac>Cac	p.D1057H	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.D1046H	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1057					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCATAGTCTTTCAGGTGA	0.393																																																	0													65	68	67					2																	20114024		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3169G>C	2.37:g.20114024C>G	ENSP00000314444:p.Asp1057His		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1057H	ENST00000345530.3	37	c.3169	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950468	0.73787	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.68624	-0.34;-0.34	5.53	5.53	0.82687	.	0.141330	0.64402	D	0.000007	D	0.82600	0.5072	M	0.83223	2.63	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.64144	0.922;0.873	D	0.84068	0.0378	10	0.59425	D	0.04	-23.7384	18.8135	0.92068	0.0:1.0:0.0:0.0	.	1046;1057	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	H	1057;1046	ENSP00000314444:D1057H;ENSP00000281405:D1046H	ENSP00000281405:D1046H	D	-	1	0	WDR35	19977505	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.675000	0.68123	2.763000	0.94921	0.655000	0.94253	GAC	WDR35	-	pirsf_WD_repeat_p35		0.393	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	C	NM_020779		20114024	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20114024	C	G	20114024	3	3	153	1	0	0	0	0	1	0	0	0	17320	913	32	1	384	1	WDR35	2	20114024	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4344249	20114024	223085349	134	26108										
WDR35	57539	genome.wustl.edu	37	chr2	20174334	20174334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctgtgccatggtaccaatGaattccagcaatgctgatag	9	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20174334G>A	ENST00000345530.3	-	7	746	c.631C>T	c.(631-633)Cat>Tat	p.H211Y	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.H211Y	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	211					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTACCAATGAATTCCAGCA	0.368																																																	0													77	68	71					2																	20174334		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.631C>T	2.37:g.20174334G>A	ENSP00000314444:p.His211Tyr		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H211Y	ENST00000345530.3	37	c.631	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158336	0.78114	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.63913	-0.07;-0.06	5.35	5.35	0.76521	.	0.093441	0.64402	D	0.000001	T	0.59945	0.2231	L	0.41236	1.265	0.80722	D	1	P;P	0.46621	0.881;0.813	B;B	0.43754	0.43;0.308	T	0.64214	-0.6460	10	0.59425	D	0.04	-22.7086	18.4351	0.90643	0.0:0.0:1.0:0.0	.	211;211	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	211	ENSP00000314444:H211Y;ENSP00000281405:H211Y	ENSP00000281405:H211Y	H	-	1	0	WDR35	20037815	1.000000	0.71417	0.659000	0.29680	0.949000	0.60115	9.713000	0.98740	2.675000	0.91044	0.591000	0.81541	CAT	WDR35	-	pirsf_WD_repeat_p35		0.368	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	G	NM_020779		20174334	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20174334	G	A	20174334	3	1	153	1	0	0	0	0	1	0	0	0	17320	1290	45	1	3002	1	WDR35	2	20174334	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	60310	20174334	223025039	135	26109										
MATN3	4148	genome.wustl.edu	37	chr2	20205975	20205975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagagtgtcgattatccggGagacaaaagttttcactttg	10	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20205975G>C	ENST00000407540.3	-	2	382	c.320C>G	c.(319-321)tCc>tGc	p.S107C	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.S107C	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	107	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTATCCGGGAGACAAAAGT	0.522																																																	0													43	44	44					2																	20205975		1935	4129	6064	SO:0001583	missense	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.320C>G	2.37:g.20205975G>C	ENSP00000383894:p.Ser107Cys		B2CPU0|Q4ZG02	Missense_Mutation	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.S107C	ENST00000407540.3	37	c.320	CCDS46226.1	2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203770	0.58234	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.84589	-1.87;-1.87	5.93	5.93	0.95920	von Willebrand factor, type A (3);	0.056076	0.64402	D	0.000001	D	0.93697	0.7986	M	0.89601	3.045	0.29772	N	0.834697	D;D	0.71674	0.998;0.994	D;P	0.70016	0.967;0.907	D	0.90248	0.4291	10	0.38643	T	0.18	-29.5804	19.3421	0.94347	0.0:0.0:1.0:0.0	.	107;107	B2CPU0;O15232	.;MATN3_HUMAN	C	107	ENSP00000383894:S107C;ENSP00000398753:S107C	ENSP00000383894:S107C	S	-	2	0	MATN3	20069456	0.150000	0.22732	0.958000	0.39756	0.836000	0.47400	2.763000	0.47605	2.826000	0.97356	0.655000	0.94253	TCC	MATN3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.522	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	HGNC	protein_coding	OTTHUMT00000323925.1	G	NM_002381		20205975	-1	no_errors	ENST00000407540	ensembl	human	known	70_37	missense	SNP	0.498	C	C	20205975	G	C	20205975	3	2	153	1	0	0	0	0	1	0	0	0	9358	1174	41	1	1168	1	MATN3	2	20205975	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	31641	20205975	222993398	136	26110										
SDC1	6382	genome.wustl.edu	37	chr2	20402528	20402528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggggcgcatggctcccgcgtCaggcatagaattcctcctgt	13	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20402528C>T	ENST00000254351.4	-	5	1176	c.932G>A	c.(931-933)tGa>tAa	p.*311*	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Silent_p.*311*	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	0					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTCCCGCGTCAGGCATAGAA	0.627																																																	0													97	101	100					2																	20402528		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.932G>A	2.37:g.20402528C>T			D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.*311	ENST00000254351.4	37	c.932	CCDS1697.1	2																																																																																			SDC1	-	NULL		0.627	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1	C	NM_001006946		20402528	-1	no_errors	ENST00000254351	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20402528	C	T	20402528	2	4	153	1	0	0	0	0	0	0	0	1	13981	837	29	1		1	SDC1	2	20402528	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	196553	20402528	222796845	137	26111										
APOB	338	genome.wustl.edu	37	chr2	21229833	21229833	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacatgaaggactggcagctCtaatgatggcaggattaatg	13	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:21229833C>T	ENST00000233242.1	-	26	10034	c.9907G>A	c.(9907-9909)Gag>Aag	p.E3303K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3303					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E3303*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGCAGCTCTAATGATGGC	0.443																																																	1	Substitution - Nonsense(1)	lung(1)											88	88	88					2																	21229833		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9907G>A	2.37:g.21229833C>T	ENSP00000233242:p.Glu3303Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E3303K	ENST00000233242.1	37	c.9907	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768866	0.31320	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37411	1.2	4.8	3.91	0.45181	.	0.107777	0.40385	N	0.001117	T	0.50086	0.1595	M	0.83483	2.645	0.80722	D	1	P	0.37997	0.614	B	0.43360	0.417	T	0.58825	-0.7568	10	0.72032	D	0.01	.	15.1578	0.72759	0.0:0.8584:0.1416:0.0	.	3303	P04114	APOB_HUMAN	K	3303	ENSP00000233242:E3303K	ENSP00000233242:E3303K	E	-	1	0	APOB	21083338	0.941000	0.31946	0.051000	0.19133	0.010000	0.07245	2.542000	0.45744	0.981000	0.38548	0.563000	0.77884	GAG	APOB	-	NULL		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21229833	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.781	T	T	21229833	C	T	21229833	3	4	153	1	0	0	0	0	1	0	0	0	785	922	32	1	3800	1	APOB	2	21229833	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	827305	21229833	221969540	138	26112										
APOB	338	genome.wustl.edu	37	chr2	21247862	21247862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaagcagctttcccaggagCtggaggtcatggagactggc	15	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:21247862C>T	ENST00000233242.1	-	16	2506	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	APOB_ENST00000399256.4_Silent_p.Q793Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	793				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). {ECO:0000305}.|Q -> R (in Ref. 4; AAB04636). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCAGGAGCTGGAGGTCAT	0.567																																																	0													81	84	83					2																	21247862		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2379G>A	2.37:g.21247862C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q793	ENST00000233242.1	37	c.2379	CCDS1703.1	2																																																																																			APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.567	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21247862	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	0.004	T	T	21247862	C	T	21247862	2	4	153	1	0	0	0	0	0	0	0	1	785	796	28	4		4	APOB	2	21247862	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	18029	21247862	221951511	139	26113										
PFN4	375189	genome.wustl.edu	37	chr2	24345292	24345292	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacttgttttttcttacattGaaacctggtgatgctacaca	6	8	1	2	rs142319508		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:24345292G>A	ENST00000313213.4	-	2	485	c.114C>T	c.(112-114)ttC>ttT	p.F38F	FAM228B_ENST00000420135.2_5'Flank|RP11-507M3.1_ENST00000584973.1_5'Flank|PFN4_ENST00000465360.1_Intron|FAM228B_ENST00000407625.1_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	38					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTACATTGAAACCTGGTG	0.383																																																	0													119	121	120					2																	24345292		2203	4300	6503	SO:0001819	synonymous_variant	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.114C>T	2.37:g.24345292G>A			Q53TL9	Silent	SNP	pfam_Profilin,superfamily_Profilin,smart_Profilin,prints_Profilin	p.F38	ENST00000313213.4	37	c.114	CCDS1709.1	2																																																																																			PFN4	-	pfam_Profilin,superfamily_Profilin,smart_Profilin		0.383	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN4	HGNC	protein_coding	OTTHUMT00000207617.2	G	NM_199346		24345292	-1	no_errors	ENST00000313213	ensembl	human	known	70_37	silent	SNP	0.861	A	A	24345292	G	A	24345292	2	1	153	1	0	0	0	0	0	0	0	1	11794	1281	45	1		1	PFN4	2	24345292	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3097430	24345292	218854081	140	26114										
ITSN2	50618	genome.wustl.edu	37	chr2	24439053	24439053	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccaggatgtccccaatcatCtgcaccggcatcttctcgcc	8	17	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:24439053C>T	ENST00000355123.4	-	32	4298	c.3855G>A	c.(3853-3855)caG>caA	p.Q1285Q	ITSN2_ENST00000361999.3_Silent_p.Q1258Q|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413254.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1285	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.			GEKMPVQ -> VDAAANS (in Ref. 6; AAD00899). {ECO:0000305}.	endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAATCATCTGCACCGGCA	0.527																																																	0													99	93	95					2																	24439053		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3855G>A	2.37:g.24439053C>T			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.Q1285	ENST00000355123.4	37	c.3855	CCDS1710.2	2																																																																																			ITSN2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.527	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24439053	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24439053	C	T	24439053	2	4	153	1	0	0	0	0	0	0	0	1	7947	912	32	1		1	ITSN2	2	24439053	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	93761	24439053	218760320	141	26115										
DNAJC27	51277	genome.wustl.edu	37	chr2	25179980	25179980	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtacaggaaccctttgctttCagcccaaagacgtccttcac	7	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:25179980C>T	ENST00000264711.2	-	5	649	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DNAJC27_ENST00000468467.1_5'Flank|DNAJC27_ENST00000534855.1_Missense_Mutation_p.E83K	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	154					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTTTGCTTTCAGCCCAAAGA	0.418																																																	0													146	138	141					2																	25179980		2203	4300	6503	SO:0001583	missense	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.460G>A	2.37:g.25179980C>T	ENSP00000264711:p.Glu154Lys		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.E154K	ENST00000264711.2	37	c.460	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.889536	0.97068	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.75704	-0.96;-0.96	5.8	5.8	0.92144	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	N	0.21142	0.635	0.80722	D	1	B;B	0.15930	0.015;0.008	B;B	0.26310	0.053;0.068	T	0.58657	-0.7598	10	0.30078	T	0.28	-32.2686	18.6227	0.91327	0.0:1.0:0.0:0.0	.	154;154	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	K	154;83	ENSP00000264711:E154K;ENSP00000440086:E83K	ENSP00000264711:E154K	E	-	1	0	DNAJC27	25033484	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.566000	0.82347	2.732000	0.93576	0.650000	0.86243	GAA	DNAJC27	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.418	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	C	NM_016544		25179980	-1	no_errors	ENST00000264711	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25179980	C	T	25179980	3	4	153	1	0	0	0	0	1	0	0	0	4655	835	29	1	373	1	DNAJC27	2	25179980	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	740927	25179980	218019393	142	26116										
DTNB	1838	genome.wustl.edu	37	chr2	25705727	25705727	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atggtgtcattcatattagtCagagggcgaggaggactgaa	14	5	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:25705727C>T	ENST00000406818.3	-	10	1266	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	DTNB_ENST00000496972.2_Silent_p.L282L|DTNB_ENST00000405222.1_Silent_p.L339L|DTNB_ENST00000404103.3_Silent_p.L339L|DTNB_ENST00000545439.1_Silent_p.L135L|DTNB_ENST00000407186.1_Silent_p.L339L|DTNB_ENST00000407661.3_Silent_p.L339L|DTNB_ENST00000407038.3_Silent_p.L339L|DTNB_ENST00000288642.8_Silent_p.L339L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	339						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATATTAGTCAGAGGGCGAG	0.463																																																	0													89	89	89					2																	25705727		2009	4156	6165	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1017G>A	2.37:g.25705727C>T			B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.L339	ENST00000406818.3	37	c.1017	CCDS46237.1	2																																																																																			DTNB	-	pirsf_Distrobrevin		0.463	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	C	NM_033147		25705727	-1	no_errors	ENST00000406818	ensembl	human	known	70_37	silent	SNP	0.998	T	T	25705727	C	T	25705727	2	4	153	1	0	0	0	0	0	0	0	1	4799	813	29	1		1	DTNB	2	25705727	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	525747	25705727	217493646	143	26117										
OTOF	9381	genome.wustl.edu	37	chr2	26691336	26691336	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccagagggctcttgttgtcGaagttgctgccaaaagatga	12	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:26691336G>A	ENST00000272371.2	-	33	4156	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	OTOF_ENST00000402415.3_Nonsense_Mutation_p.R654*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.R1344*|OTOF_ENST00000339598.3_Nonsense_Mutation_p.R577*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.R577*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1344					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTGTTGTCGAAGTTGCTGC	0.542																																					GBM(102;732 1451 20652 24062 31372)												0													146	133	137					2																	26691336		2203	4300	6503	SO:0001587	stop_gained	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4030C>T	2.37:g.26691336G>A	ENSP00000272371:p.Arg1344*		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1344*	ENST00000272371.2	37	c.4030	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	44	10.851228	0.99477	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.	.	.	5.62	4.66	0.58398	.	0.305652	0.18313	U	0.145027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4064	16.0572	0.80814	0.0:0.0:0.857:0.143	.	.	.	.	X	577;577;654;1344;1344	.	ENSP00000272371:R1344X	R	-	1	2	OTOF	26544840	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	2.112000	0.41892	2.644000	0.89710	0.561000	0.74099	CGA	OTOF	-	NULL		0.542	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	G			26691336	-1	no_errors	ENST00000272371	ensembl	human	known	70_37	nonsense	SNP	0.656	A	A	26691336	G	A	26691336	4	1	153	1	0	0	0	0	0	1	0	0	11327	1066	37	1	2204	1	OTOF	2	26691336	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	985609	26691336	216508037	144	26118										
CIB4	130106	genome.wustl.edu	37	chr2	26863418	26863418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccacagaatttcatttctGgtcaggaaggtcagggcctg	11	10	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:26863418G>A	ENST00000288861.4	-	2	125	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	24							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCATTTCTGGTCAGGAAGG	0.567																																																	0													152	152	152					2																	26863418		2203	4300	6503	SO:0001819	synonymous_variant	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.72C>T	2.37:g.26863418G>A			B2RU18	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T24	ENST00000288861.4	37	c.72	CCDS33160.1	2																																																																																			CIB4	-	NULL		0.567	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	G			26863418	-1	no_errors	ENST00000288861	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26863418	G	A	26863418	2	1	153	1	0	0	0	0	0	0	0	1	3428	1335	47	4		4	CIB4	2	26863418	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	172082	26863418	216335955	145	26119										
CGREF1	3795	genome.wustl.edu	37	chr2	27322670	27322670	+	3'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactaccattgcggctgcatCgccttctcccctccatccag	7	18	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27322670C>T	ENST00000260599.6	+	0	1462				KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_3'UTR|CGREF1_ENST00000402550.1_Silent_p.A127A|CGREF1_ENST00000452318.2_Silent_p.A107A	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGCTGCATCGCCTTCTCCC	0.622																																																	0													84	90	88					2																	27322670		1327	2309	3636	SO:0001624	3_prime_UTR_variant	10669				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.*52C>T	2.37:g.27322670C>T			Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Silent	SNP	NULL	p.A107	ENST00000260599.6	37	c.321	CCDS1734.1	2																																																																																			CGREF1	-	NULL		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGREF1	HGNC	protein_coding	OTTHUMT00000214196.1	C			27322670	-1	no_errors	ENST00000452318	ensembl	human	known	70_37	silent	SNP	0.000	T	T	27322670	C	T	27322670	1	4	153	0	1	0	0	0	0	0	0	0	3310	871	31	1		1	CGREF1	2	27322670	3'UTR	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	459252	27322670	215876703	146	26120										
GCKR	2646	genome.wustl.edu	37	chr2	27746301	27746301	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agatcctagagcctgacgttCagtgaacccatgtttctggg	11	10	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27746301C>T	ENST00000264717.2	+	19	1936	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.Q435*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	625					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GCCTGACGTTCAGTGAACCCA	0.617																																																	0													57	56	56					2																	27746301		2203	4300	6503	SO:0001587	stop_gained	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1873C>T	2.37:g.27746301C>T	ENSP00000264717:p.Gln625*		A1L4C2|B4DPQ2|Q53RY6|Q99522	Nonsense_Mutation	SNP	NULL	p.Q625*	ENST00000264717.2	37	c.1873	CCDS1757.1	2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494001	0.44352	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	.	.	.	3.95	1.97	0.26223	.	1.062050	0.07588	U	0.921446	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.9134	0.13833	0.0:0.6609:0.2191:0.12	.	.	.	.	X	625;435	.	ENSP00000264717:Q625X	Q	+	1	0	GCKR	27599805	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	0.683000	0.25349	0.992000	0.38840	-0.251000	0.11542	CAG	GCKR	-	NULL		0.617	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	C	NM_001486		27746301	1	no_errors	ENST00000264717	ensembl	human	known	70_37	nonsense	SNP	0.005	T	T	27746301	C	T	27746301	4	4	153	1	0	0	0	0	0	1	0	0	6313	827	29	1	1947	1	GCKR	2	27746301	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	423631	27746301	215453072	147	26121										
C2orf16	84226	genome.wustl.edu	37	chr2	27801949	27801949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatggaggagctagagaactCacttcagagacatctaccac	9	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27801949C>T	ENST00000408964.2	+	1	2561	c.2510C>T	c.(2509-2511)tCa>tTa	p.S837L	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	837						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTAGAGAACTCACTTCAGAGA	0.453																																																	0													84	85	85					2																	27801949		1950	4159	6109	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2510C>T	2.37:g.27801949C>T	ENSP00000386190:p.Ser837Leu		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.S837L	ENST00000408964.2	37	c.2510	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270808	0.23221	.	.	ENSG00000221843	ENST00000408964	T	0.09723	2.95	5.24	-0.108	0.13588	.	.	.	.	.	T	0.06645	0.0170	N	0.24115	0.695	0.09310	N	1	B	0.20052	0.041	B	0.19946	0.027	T	0.37549	-0.9701	9	0.87932	D	0	.	3.3984	0.07315	0.1789:0.4115:0.0:0.4096	.	837	Q68DN1	CB016_HUMAN	L	837	ENSP00000386190:S837L	ENSP00000386190:S837L	S	+	2	0	C2orf16	27655453	0.011000	0.17503	0.052000	0.19188	0.059000	0.15707	0.292000	0.19011	0.067000	0.16545	0.591000	0.81541	TCA	C2orf16	-	NULL		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	C	NM_032266		27801949	1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.007	T	T	27801949	C	T	27801949	3	4	153	1	0	0	0	0	1	0	0	0	2162	838	29	1	2512	1	C2orf16	2	27801949	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	55648	27801949	215397424	148	26122										
C2orf16	84226	genome.wustl.edu	37	chr2	27804010	27804010	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctggttcccctgtgaagaGaacctggcaccgacatctta	9	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27804010G>C	ENST00000408964.2	+	1	4622	c.4571G>C	c.(4570-4572)aGa>aCa	p.R1524T	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1524						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTGTGAAGAGAACCTGGCAC	0.512																																																	0													92	94	93					2																	27804010		1909	4113	6022	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4571G>C	2.37:g.27804010G>C	ENSP00000386190:p.Arg1524Thr		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.R1524T	ENST00000408964.2	37	c.4571	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001092	0.35320	.	.	ENSG00000221843	ENST00000408964	T	0.10763	2.84	3.79	-0.216	0.13153	.	.	.	.	.	T	0.05823	0.0152	N	0.24115	0.695	0.09310	N	0.999998	B	0.33318	0.408	B	0.26094	0.066	T	0.34004	-0.9846	9	0.49607	T	0.09	.	4.8877	0.13712	0.2945:0.159:0.5465:0.0	.	1524	Q68DN1	CB016_HUMAN	T	1524	ENSP00000386190:R1524T	ENSP00000386190:R1524T	R	+	2	0	C2orf16	27657514	0.898000	0.30612	0.003000	0.11579	0.188000	0.23474	0.795000	0.26972	-0.053000	0.13289	0.462000	0.41574	AGA	C2orf16	-	NULL		0.512	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	G	NM_032266		27804010	1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.361	C	C	27804010	G	C	27804010	3	2	153	1	0	0	0	0	1	0	0	0	2162	942	33	1	4573	1	C2orf16	2	27804010	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2061	27804010	215395363	149	26123										
CAPN13	92291	genome.wustl.edu	37	chr2	30976051	30976051	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgaatttctgttggaaatCttgacacgacatcctgttaa	8	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:30976051C>G	ENST00000295055.8	-	10	1131	c.955G>C	c.(955-957)Gat>Cat	p.D319H	CAPN13_ENST00000534090.2_Missense_Mutation_p.D319H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	319	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTGGAAATCTTGACACGAC	0.448																																																	0													168	150	156					2																	30976051		1909	4120	6029	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.955G>C	2.37:g.30976051C>G	ENSP00000295055:p.Asp319His		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D319H	ENST00000295055.8	37	c.955	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259610	0.59321	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.92858	-3.12;-3.12	5.27	5.27	0.74061	Peptidase C2, calpain, catalytic domain (3);	0.043497	0.85682	D	0.000000	D	0.97278	0.9110	H	0.95950	3.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98249	1.0492	10	0.87932	D	0	.	14.3858	0.66942	0.0:1.0:0.0:0.0	.	319	Q6MZZ7	CAN13_HUMAN	H	319	ENSP00000295055:D319H;ENSP00000431298:D319H	ENSP00000295055:D319H	D	-	1	0	CAPN13	30829555	0.998000	0.40836	1.000000	0.80357	0.598000	0.36846	1.874000	0.39568	2.462000	0.83206	0.561000	0.74099	GAT	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.448	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	C	NM_144575		30976051	-1	no_errors	ENST00000295055	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30976051	C	G	30976051	3	3	153	1	0	0	0	0	1	0	0	0	2631	913	32	1	1106	1	CAPN13	2	30976051	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3172041	30976051	212223322	150	26124										
DPY30	84661	genome.wustl.edu	37	chr2	32254698	32254698	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acagcaagtccctgtaataaGataggcacaactgtctgatc	8	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:32254698G>C	ENST00000342166.5	-	4	307	c.192C>G	c.(190-192)atC>atG	p.I64M	DPY30_ENST00000295066.3_Missense_Mutation_p.I64M			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	64					endosomal transport (GO:0016197)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCTGTAATAAGATAGGCACAA	0.393																																																	0													148	146	147					2																	32254698		2203	4300	6503	SO:0001583	missense	84661				CCDS1777.1	2p22.3	2013-09-09			ENSG00000162961	ENSG00000162961			24590	protein-coding gene	gene with protein product		612032				12477932	Standard	XM_006712117		Approved	Saf19, HDPY-30, Cps25	uc002roa.1	Q9C005	OTTHUMG00000128457	ENST00000342166.5:c.192C>G	2.37:g.32254698G>C	ENSP00000345837:p.Ile64Met		D6W578	Missense_Mutation	SNP	pfam_Dpy-30_motif	p.I64M	ENST00000342166.5	37	c.192	CCDS1777.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696980	0.68386	.	.	ENSG00000162961	ENST00000342166;ENST00000295066	T;T	0.76448	-1.02;-1.02	6.08	1.79	0.24919	Dpy-30 motif (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	.	.	.	0.80722	D	1	P	0.48998	0.918	P	0.52957	0.714	T	0.76876	-0.2797	9	0.87932	D	0	-25.0828	6.2102	0.20626	0.2077:0.0:0.5638:0.2285	.	64	Q9C005	DPY30_HUMAN	M	64	ENSP00000345837:I64M;ENSP00000295066:I64M	ENSP00000295066:I64M	I	-	3	3	DPY30	32108202	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.623000	0.37008	0.455000	0.26910	0.591000	0.81541	ATC	DPY30	-	pfam_Dpy-30_motif		0.393	DPY30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY30	HGNC	protein_coding	OTTHUMT00000250255.2	G	NM_032574		32254698	-1	no_errors	ENST00000422413	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32254698	G	C	32254698	3	2	153	1	0	0	0	0	1	0	0	0	4754	932	33	1	115	1	DPY30	2	32254698	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1278647	32254698	210944675	151	26125										
FAM98A	25940	genome.wustl.edu	37	chr2	33810301	33810301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccccctcggccaccatggtCatagccaccacgtccacctc	6	21	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:33810301C>T	ENST00000238823.8	-	8	1239	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.D172N|FAM98A_ENST00000498340.1_5'Flank			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	368	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCACCATGGTCATAGCCACCA	0.582																																																	0													187	152	164					2																	33810301		2203	4300	6503	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1099G>A	2.37:g.33810301C>T	ENSP00000238823:p.Asp367Asn		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.D367N	ENST00000238823.8	37	c.1099	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706406	0.48412	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.82893	0.81;-1.66	5.56	4.69	0.59074	.	0.305972	0.34932	N	0.003570	T	0.68044	0.2958	N	0.08118	0	0.46521	D	0.999084	P;P;B;P	0.34522	0.455;0.455;0.447;0.455	B;B;B;B	0.37451	0.127;0.127;0.25;0.127	T	0.64993	-0.6276	10	0.11794	T	0.64	-9.9942	14.3707	0.66838	0.0:0.929:0.0:0.071	.	368;198;367;205	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	N	367;368;172	ENSP00000238823:D367N;ENSP00000408716:D172N	ENSP00000238823:D367N	D	-	1	0	FAM98A	33663805	1.000000	0.71417	0.934000	0.37439	0.917000	0.54804	5.599000	0.67592	1.358000	0.45922	0.491000	0.48974	GAC	FAM98A	-	NULL		0.582	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	C	NM_015475		33810301	-1	no_errors	ENST00000238823	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33810301	C	T	33810301	3	4	153	1	0	0	0	0	1	0	0	0	5674	826	29	1	461	1	FAM98A	2	33810301	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1555603	33810301	209389072	152	26126										
ATL2	64225	genome.wustl.edu	37	chr2	38523698	38523698	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaagagcacggtgaaccattCgacgtctagtaacttcaaac	8	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:38523698C>G	ENST00000378954.4	-	13	1634				ATL2_ENST00000452935.2_Intron|ATL2_ENST00000406122.1_Missense_Mutation_p.R390P|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.R556P|ATL2_ENST00000546051.1_Missense_Mutation_p.R390P|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.R543P	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGAACCATTCGACGTCTAGT	0.373																																																	0													86	78	81					2																	38523698		2203	4300	6503	SO:0001627	intron_variant	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1633-443G>C	2.37:g.38523698C>G			B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.R556P	ENST00000378954.4	37	c.1667	CCDS46260.1	2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069160	0.36470	.	.	ENSG00000119787	ENST00000406122;ENST00000332337;ENST00000419554;ENST00000546051	D;D;D;D	0.94280	-3.39;-1.59;-2.88;-3.39	5.23	5.23	0.72850	.	.	.	.	.	D	0.91751	0.7391	L	0.50333	1.59	0.30695	N	0.750951	P;B;B	0.47409	0.895;0.305;0.451	B;B;B	0.41271	0.352;0.333;0.124	D	0.90869	0.4744	9	0.51188	T	0.08	.	18.1463	0.89656	0.0:1.0:0.0:0.0	.	390;543;556	B5MCN0;Q8NHH9-4;Q8NHH9-2	.;.;.	P	390;543;556;390	ENSP00000385446:R390P;ENSP00000333393:R543P;ENSP00000415336:R556P;ENSP00000438938:R390P	ENSP00000333393:R543P	R	-	2	0	ATL2	38377202	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.166000	0.58203	2.591000	0.87537	0.563000	0.77884	CGA	ATL2	-	NULL		0.373	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	C	NM_022374		38523698	-1	no_errors	ENST00000419554	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38523698	C	G	38523698	1	3	153	0	1	0	0	0	0	0	0	0	1108	884	31	1		1	ATL2	2	38523698	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4713397	38523698	204675675	153	26127										
EML4	27436	genome.wustl.edu	37	chr2	42490404	42490404	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taaattgtcgaaaataccttCaacacccaaattaataccaa	2	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:42490404C>G	ENST00000318522.5	+	5	861	c.599C>G	c.(598-600)tCa>tGa	p.S200*	EML4_ENST00000401738.3_Nonsense_Mutation_p.S200*|EML4_ENST00000402711.2_Nonsense_Mutation_p.S142*	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	200					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAAATACCTTCAACACCCAAA	0.318			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													86	83	84					2																	42490404		2203	4300	6503	SO:0001587	stop_gained	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.599C>G	2.37:g.42490404C>G	ENSP00000320663:p.Ser200*		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S200*	ENST00000318522.5	37	c.599	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	c	36	5.921375	0.97105	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.36	5.36	0.76844	.	0.516357	0.18299	N	0.145468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.7531	19.1108	0.93315	0.0:1.0:0.0:0.0	.	.	.	.	X	200;142;200	.	ENSP00000320663:S200X	S	+	2	0	EML4	42343908	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	2.723000	0.47277	2.527000	0.85204	0.558000	0.71614	TCA	EML4	-	NULL		0.318	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	C	NM_019063		42490404	1	no_errors	ENST00000318522	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	42490404	C	G	42490404	4	3	153	1	0	0	0	0	0	1	0	0	5111	838	29	1	617	1	EML4	2	42490404	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3966706	42490404	200708969	154	26128										
ABCG8	64241	genome.wustl.edu	37	chr2	44104968	44104968	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctctacgccatctacctcatCgtcattggcctcagcggtgg	9	15	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:44104968C>T	ENST00000272286.2	+	13	2028	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	646	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTACCTCATCGTCATTGGCC	0.527											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													193	142	159					2																	44104968		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1938C>T	2.37:g.44104968C>T		921	Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.I646	ENST00000272286.2	37	c.1938	CCDS1815.1	2																																																																																			ABCG8	-	NULL		0.527	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44104968	1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	0.560	T	T	44104968	C	T	44104968	2	4	153	1	0	0	0	0	0	0	0	1	72	874	31	1		1	ABCG8	2	44104968	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1614564	44104968	199094405	155	26129										
NRXN1	9378	genome.wustl.edu	37	chr2	50847273	50847273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccccagcatggtataatcttCttgcgtgtagcccgttgtgg	11	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:50847273C>G	ENST00000406316.2	-	8	2683	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	NRXN1_ENST00000401669.2_Missense_Mutation_p.E403Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E395Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.E395Q|NRXN1_ENST00000404971.1_Missense_Mutation_p.E443Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.E403Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	403	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTATAATCTTCTTGCGTGTAG	0.478																																																	0													63	64	64					2																	50847273		2047	4228	6275	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1207G>C	2.37:g.50847273C>G	ENSP00000384311:p.Glu403Gln		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E395Q	ENST00000406316.2	37	c.1183	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699915	0.68501	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79141	-1.15;-1.15;-1.24;-1.15;-1.24;-1.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.64404	1.975	0.51482	D	0.999921	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.99;0.986;0.998	D	0.86705	0.1932	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	443;403;395	Q9ULB1-3;F8WB18;A7E294	.;.;.	Q	443;403;395;403;444;395;403	ENSP00000385142:E443Q;ENSP00000384311:E403Q;ENSP00000434015:E395Q;ENSP00000385017:E403Q;ENSP00000385434:E395Q;ENSP00000385681:E403Q	ENSP00000385017:E403Q	E	-	1	0	NRXN1	50700777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50847273	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50847273	C	G	50847273	3	3	153	1	0	0	0	0	1	0	0	0	10689	922	32	1	3643	1	NRXN1	2	50847273	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6742305	50847273	192352100	156	26130										
RTN4	57142	genome.wustl.edu	37	chr2	55253525	55253525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttttgtttcataagcaatCtttgtaccagtaacttcatt	4	7	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:55253525C>G	ENST00000337526.6	-	3	1953	c.1710G>C	c.(1708-1710)aaG>aaC	p.K570N	RTN4_ENST00000357376.3_Missense_Mutation_p.K364N|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.K364N|RTN4_ENST00000394611.2_Missense_Mutation_p.K364N|RTN4_ENST00000404909.1_Missense_Mutation_p.K364N|RTN4_ENST00000354474.6_Missense_Mutation_p.K338N|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	570					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATAAGCAATCTTTGTACCAG	0.423																																																	0													105	94	98					2																	55253525		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1710G>C	2.37:g.55253525C>G	ENSP00000337838:p.Lys570Asn		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.K570N	ENST00000337526.6	37	c.1710	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441102	0.43326	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;1.12	5.85	0.287	0.15714	.	0.000000	0.64402	D	0.000001	T	0.58821	0.2149	M	0.71581	2.175	0.32313	N	0.563467	D	0.76494	0.999	D	0.80764	0.994	T	0.67719	-0.5598	10	0.87932	D	0	-16.2158	11.7665	0.51933	0.0:0.563:0.0:0.437	.	570	Q9NQC3	RTN4_HUMAN	N	364;364;570;364;364;338	ENSP00000384471:K364N;ENSP00000349944:K364N;ENSP00000337838:K570N;ENSP00000378109:K364N;ENSP00000385650:K364N;ENSP00000346465:K338N	ENSP00000337838:K570N	K	-	3	2	RTN4	55107029	0.028000	0.19301	0.310000	0.25168	0.994000	0.84299	-0.464000	0.06688	0.097000	0.17492	0.585000	0.79938	AAG	RTN4	-	NULL		0.423	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	C			55253525	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	missense	SNP	0.505	G	G	55253525	C	G	55253525	3	3	153	1	0	0	0	0	1	0	0	0	13758	912	32	1	1934	1	RTN4	2	55253525	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4406252	55253525	187945848	157	26131										
PAPOLG	64895	genome.wustl.edu	37	chr2	61018955	61018955	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatgaaaattgaagcaactCatgtaaagaaaaaacaactt	6	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:61018955C>G	ENST00000238714.3	+	16	1705	c.1456C>G	c.(1456-1458)Cat>Gat	p.H486D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	486					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TGAAGCAACTCATGTAAAGAA	0.323																																					GBM(183;1497 2932 21839 46797)												0													104	103	103					2																	61018955		2203	4300	6503	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1456C>G	2.37:g.61018955C>G	ENSP00000238714:p.His486Asp		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.H486D	ENST00000238714.3	37	c.1456	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437115	0.83885	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	6.02	6.02	0.97574	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.091863	0.85682	D	0.000000	T	0.80939	0.4720	M	0.84948	2.725	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.926	D;D;P	0.79784	0.993;0.973;0.847	T	0.83041	-0.0157	9	0.87932	D	0	-12.0585	14.6632	0.68888	0.0:0.9293:0.0:0.0707	.	175;20;486	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	D	486;175;154	.	ENSP00000238714:H486D	H	+	1	0	PAPOLG	60872459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.761000	0.62243	2.865000	0.98341	0.655000	0.94253	CAT	PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase		0.323	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3	C	NM_022894		61018955	1	no_errors	ENST00000238714	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61018955	C	G	61018955	3	3	153	1	0	0	0	0	1	0	0	0	11455	826	29	1	1518	1	PAPOLG	2	61018955	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5765430	61018955	182180418	158	26132										
DGUOK	1716	genome.wustl.edu	37	chr2	74177749	74177749	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atctttttgaaaatggttccCtcagtgacatcgagtggcat	9	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74177749C>G	ENST00000264093.4	+	4	566	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000356837.6_Missense_Mutation_p.L139V	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	161					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	AAATGGTTCCCTCAGTGACAT	0.478																																																	0													223	227	225					2																	74177749		2203	4300	6503	SO:0001583	missense	1716			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.481C>G	2.37:g.74177749C>G	ENSP00000264093:p.Leu161Val		P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.L161V	ENST00000264093.4	37	c.481	CCDS1931.1	2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534160	0.45073	.	.	ENSG00000114956	ENST00000264093;ENST00000356837;ENST00000347161	D;D	0.98120	-4.73;-4.73	5.67	3.82	0.43975	.	0.190628	0.44902	D	0.000415	D	0.97028	0.9029	M	0.81497	2.545	0.52501	D	0.999954	B	0.32753	0.383	B	0.42343	0.384	D	0.95164	0.8284	10	0.72032	D	0.01	-5.5962	4.9324	0.13923	0.3467:0.5072:0.0:0.1462	.	161	Q16854	DGUOK_HUMAN	V	161;139;123	ENSP00000264093:L161V;ENSP00000349294:L139V	ENSP00000264093:L161V	L	+	1	0	DGUOK	74031257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.496000	0.35638	0.677000	0.31305	0.563000	0.77884	CTC	DGUOK	-	pfam_Deoxynucleoside_kinase		0.478	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	C			74177749	1	no_errors	ENST00000264093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74177749	C	G	74177749	3	3	153	1	0	0	0	0	1	0	0	0	4485	681	24	4	495	4	DGUOK	2	74177749	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	13158794	74177749	169021624	159	26133										
TET3	200424	genome.wustl.edu	37	chr2	74274014	74274014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccaagcaccaggccactcCtcagctcagaggtgccccag	9	18	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74274014C>T	ENST00000409262.3	+	1	565	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	189					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGCCACTCCTCAGCTCAGA	0.642																																																	0													23	26	25					2																	74274014		2002	4163	6165	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.565C>T	2.37:g.74274014C>T	ENSP00000386869:p.Leu189Phe		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.L189F	ENST00000409262.3	37	c.565	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825080	0.16678	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.25250	1.81;2.68	5.46	4.58	0.56647	.	.	.	.	.	T	0.19446	0.0467	N	0.19112	0.55	0.24527	N	0.994131	P	0.37955	0.612	B	0.41088	0.347	T	0.11131	-1.0600	9	0.49607	T	0.09	.	8.2468	0.31693	0.1578:0.7625:0.0:0.0796	.	189	O43151	TET3_HUMAN	F	231;189;189	ENSP00000307803:L231F;ENSP00000386869:L189F	ENSP00000233310:L189F	L	+	1	0	TET3	74127522	0.000000	0.05858	0.874000	0.34290	0.178000	0.23041	0.992000	0.29667	1.302000	0.44855	-0.310000	0.09108	CTC	TET3	-	NULL		0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74274014	1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	0.872	T	T	74274014	C	T	74274014	3	4	153	1	0	0	0	0	1	0	0	0	15801	681	24	4	567	4	TET3	2	74274014	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	96265	74274014	168925359	160	26134										
TET3	200424	genome.wustl.edu	37	chr2	74320052	74320052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaagtgctccggaagagtttCcaggacctggccaccgaagt	13	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74320052C>A	ENST00000409262.3	+	6	2658	c.2658C>A	c.(2656-2658)ttC>ttA	p.F886L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	886					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAAGAGTTTCCAGGACCTGG	0.617																																																	0													22	23	23					2																	74320052		1938	4143	6081	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2658C>A	2.37:g.74320052C>A	ENSP00000386869:p.Phe886Leu		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.F886L	ENST00000409262.3	37	c.2658	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234082	0.39498	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.06608	3.28	4.61	2.78	0.32641	TET cysteine-rich domain (1);	0.051628	0.85682	D	0.000000	T	0.04543	0.0124	N	0.12920	0.275	0.53688	D	0.99997	B	0.29909	0.261	B	0.39119	0.291	T	0.50118	-0.8865	10	0.15066	T	0.55	.	7.3602	0.26742	0.0:0.7155:0.0:0.2845	.	886	O43151	TET3_HUMAN	L	886	ENSP00000386869:F886L	ENSP00000233310:F886L	F	+	3	2	TET3	74173560	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.689000	0.25437	0.637000	0.30526	0.655000	0.94253	TTC	TET3	-	NULL		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74320052	1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74320052	C	A	74320052	3	1	153	1	0	0	0	0	1	0	0	0	15801	854	30	3	2680	3	TET3	2	74320052	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	46038	74320052	168879321	161	26135										
SLC4A5	57835	genome.wustl.edu	37	chr2	74486733	74486733	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctggtctgtgtttggggtGagagaaatgtcattcatgct	13	6	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74486733G>A	ENST00000377634.4	-	12	1248	c.849C>T	c.(847-849)ctC>ctT	p.L283L	SLC4A5_ENST00000359484.4_Silent_p.L219L|SLC4A5_ENST00000394019.2_Silent_p.L283L|SLC4A5_ENST00000346834.4_Silent_p.L283L|SLC4A5_ENST00000358683.4_Silent_p.L219L|SLC4A5_ENST00000357822.5_Silent_p.L283L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.L283L|SLC4A5_ENST00000423644.1_Silent_p.L283L|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTTTGGGGTGAGAGAAATGT	0.507																																																	0													254	225	235					2																	74486733		2203	4300	6503	SO:0001819	synonymous_variant	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.849C>T	2.37:g.74486733G>A				Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L283	ENST00000377634.4	37	c.849	CCDS1936.1	2																																																																																			SLC4A5	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.507	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	G			74486733	-1	no_errors	ENST00000357822	ensembl	human	known	70_37	silent	SNP	0.970	A	A	74486733	G	A	74486733	2	1	153	1	0	0	0	0	0	0	0	1	14687	1277	45	1		1	SLC4A5	2	74486733	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	166681	74486733	168712640	162	26136										
REG1A	5967	genome.wustl.edu	37	chr2	79348786	79348786	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actactttaatgaagaccgtGagacctgggttgatgcagat	11	7	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:79348786G>A	ENST00000233735.1	+	3	266	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	55	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGAAGACCGTGAGACCTGGGT	0.572																																																	0													157	149	151					2																	79348786		2203	4300	6503	SO:0001583	missense	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.163G>A	2.37:g.79348786G>A	ENSP00000233735:p.Glu55Lys		P11379|Q4ZG28	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E55K	ENST00000233735.1	37	c.163	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	g	10.85	1.465570	0.26335	.	.	ENSG00000115386	ENST00000233735	T	0.64085	-0.08	2.97	0.305	0.15801	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.711339	0.11447	N	0.563131	T	0.23727	0.0574	N	0.01015	-1.05	0.09310	N	1	P;P	0.49559	0.827;0.925	P;B	0.44359	0.447;0.362	T	0.26608	-1.0098	10	0.02654	T	1	.	2.0022	0.03470	0.2636:0.0:0.3068:0.4296	.	55;55	A8K7G6;P05451	.;REG1A_HUMAN	K	55	ENSP00000233735:E55K	ENSP00000233735:E55K	E	+	1	0	REG1A	79202294	0.000000	0.05858	0.001000	0.08648	0.931000	0.56810	-1.230000	0.02942	0.042000	0.15717	0.563000	0.77884	GAG	REG1A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.572	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	G	NM_002909		79348786	1	no_errors	ENST00000233735	ensembl	human	known	70_37	missense	SNP	0.001	A	A	79348786	G	A	79348786	3	1	153	1	0	0	0	0	1	0	0	0	13240	1291	45	1	169	1	REG1A	2	79348786	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4862053	79348786	163850587	163	26137										
DNAH6	1768	genome.wustl.edu	37	chr2	84774646	84774646	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctaggagaatttcgaaatGaggcaaaatatgtagtcagg	12	5	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:84774646G>A	ENST00000237449.6	+	6	1104	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E366K|DNAH6_ENST00000389394.3_Missense_Mutation_p.E366K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	366	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCGAAATGAGGCAAAATA	0.403																																																	0													257	221	232					2																	84774646		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1096G>A	2.37:g.84774646G>A	ENSP00000237449:p.Glu366Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E366K	ENST00000237449.6	37	c.1096	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	1.841	-0.467414	0.04476	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.23348	1.91;2.05;1.91	5.35	3.54	0.40534	.	.	.	.	.	T	0.09730	0.0239	N	0.11427	0.14	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.38950	-0.9637	9	0.05833	T	0.94	.	2.7859	0.05374	0.1619:0.1414:0.5512:0.1455	.	366	Q9C0G6	DYH6_HUMAN	K	366	ENSP00000374045:E366K;ENSP00000381326:E366K;ENSP00000237449:E366K	ENSP00000237449:E366K	E	+	1	0	DNAH6	84628157	0.963000	0.33076	0.005000	0.12908	0.707000	0.40811	1.149000	0.31626	0.632000	0.30432	0.591000	0.81541	GAG	DNAH6	-	NULL		0.403	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84774646	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.383	A	A	84774646	G	A	84774646	3	1	153	1	0	0	0	0	1	0	0	0	4615	1291	45	1	1118	1	DNAH6	2	84774646	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5425860	84774646	158424727	164	26138										
DNAH6	1768	genome.wustl.edu	37	chr2	84936590	84936590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaacactgatgggctgcccCgtgacttgatatcaacagaa	11	10	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:84936590C>T	ENST00000237449.6	+	54	9180	c.9172C>T	c.(9172-9174)Cgt>Tgt	p.R3058C	DNAH6_ENST00000389394.3_Missense_Mutation_p.R3058C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3058	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGGGCTGCCCCGTGACTTGAT	0.463																																																	0													111	98	102					2																	84936590		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9172C>T	2.37:g.84936590C>T	ENSP00000237449:p.Arg3058Cys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3058C	ENST00000237449.6	37	c.9172	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638263	0.67130	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.42131	0.98;0.98	5.27	4.37	0.52481	.	0.521020	0.13789	N	0.362695	T	0.68714	0.3031	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.71447	-0.4590	10	0.66056	D	0.02	.	13.7064	0.62641	0.1608:0.8392:0.0:0.0	.	3058	Q9C0G6	DYH6_HUMAN	C	3058	ENSP00000374045:R3058C;ENSP00000237449:R3058C	ENSP00000237449:R3058C	R	+	1	0	DNAH6	84790101	0.946000	0.32159	0.968000	0.41197	0.792000	0.44763	1.755000	0.38379	1.142000	0.42291	0.650000	0.86243	CGT	DNAH6	-	NULL		0.463	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	C	NM_001370		84936590	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.997	T	T	84936590	C	T	84936590	3	4	153	1	0	0	0	0	1	0	0	0	4615	652	23	2	9386	2	DNAH6	2	84936590	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	161944	84936590	158262783	165	26139										
REEP1	65055	genome.wustl.edu	37	chr2	86444209	86444209	+	3'UTR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtacttttcttcctgaagcGagatcgaaggattctaggcg	12	8	2	2	rs375445585		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:86444209G>C	ENST00000165698.5	-	0	763				REEP1_ENST00000540790.1_3'UTR|REEP1_ENST00000538924.1_3'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.R129G|REEP1_ENST00000535845.1_3'UTR	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCTGAAGCGAGATCGAAGG	0.498																																																	0			GRCh37	CR082030	REEP1	R							142	133	136					2																	86444209		2203	4300	6503	SO:0001624	3_prime_UTR_variant	65055			AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"Receptor accessory proteins"	25786	protein-coding gene	gene with protein product	"receptor expression enhancing protein 1"	609139	"chromosome 2 open reading frame 23"	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.*14C>G	2.37:g.86444209G>C			B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.R129G	ENST00000165698.5	37	c.385	CCDS1989.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015734	0.75161	.	.	ENSG00000068615	ENST00000541910	D	0.94862	-3.54	5.93	5.93	0.95920	.	.	.	.	.	D	0.93180	0.7828	.	.	.	0.80722	D	1	P	0.44090	0.826	B	0.43155	0.41	D	0.91736	0.5400	8	0.30078	T	0.28	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	129	B7Z4D7	.	G	129	ENSP00000442681:R129G	ENSP00000442681:R129G	R	-	1	0	REEP1	86297720	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.780000	0.75063	2.826000	0.97356	0.655000	0.94253	CGC	REEP1	-	NULL		0.498	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP1	HGNC	protein_coding	OTTHUMT00000252523.2	G	NM_022912		86444209	-1	no_errors	ENST00000541910	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86444209	G	C	86444209	1	2	153	0	1	0	0	0	0	0	0	0	13234	1058	37	1		1	REEP1	2	86444209	3'UTR	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1507619	86444209	156755164	166	26140										
ADRA2B	151	genome.wustl.edu	37	chr2	96781784	96781784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcggctggtcaacacagcCaggatgaccagagcgttgcc	14	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:96781784C>T	ENST00000409345.3	-	1	200	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	35					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAACACAGCCAGGATGACCA	0.632																																																	0													28	36	34					2																	96781784		2191	4295	6486	SO:0001819	synonymous_variant	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.105G>A	2.37:g.96781784C>T			Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.L35	ENST00000409345.3	37	c.105	CCDS56129.1	2																																																																																			ADRA2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.632	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	HGNC	protein_coding	OTTHUMT00000334990.1	C			96781784	-1	no_errors	ENST00000409345	ensembl	human	known	70_37	silent	SNP	1.000	T	T	96781784	C	T	96781784	2	4	153	1	0	0	0	0	0	0	0	1	338	581	21	4		4	ADRA2B	2	96781784	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10337575	96781784	146417589	167	26141										
TMEM131	23505	genome.wustl.edu	37	chr2	98426211	98426211	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcagtgagcctactgcaatCacagccttcacagggattgt	10	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:98426211C>T	ENST00000186436.5	-	19	2223	c.1995G>A	c.(1993-1995)gtG>gtA	p.V665V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	665						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTACTGCAATCACAGCCTTCA	0.398																																																	0													69	68	68					2																	98426211		1943	4145	6088	SO:0001819	synonymous_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1995G>A	2.37:g.98426211C>T				Silent	SNP	pfam_DUF3651_TMEM131	p.V665	ENST00000186436.5	37	c.1995	CCDS46368.1	2																																																																																			TMEM131	-	pfam_DUF3651_TMEM131		0.398	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98426211	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	silent	SNP	0.994	T	T	98426211	C	T	98426211	2	4	153	1	0	0	0	0	0	0	0	1	16074	813	29	1		1	TMEM131	2	98426211	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1644427	98426211	144773162	168	26142										
C2orf64	493753	genome.wustl.edu	37	chr2	99220620	99220620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttcaaagagttgcagtatCcttccttcaaacactgccga	6	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:99220620C>T	ENST00000328709.3	-	2	220	c.134G>A	c.(133-135)gGa>gAa	p.G45E	COA5_ENST00000483527.1_5'UTR|COA5_ENST00000409997.1_Missense_Mutation_p.G45E	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	45						mitochondrion (GO:0005739)											GTTGCAGTATCCTTCCTTCAA	0.333																																																	0													83	83	83					2																	99220620		2203	4300	6503	SO:0001583	missense	493753				CCDS33257.1	2q11.2	2012-10-15	2012-10-15	2011-07-19	ENSG00000183513	ENSG00000183513		"Mitochondrial respiratory chain complex assembly factors"	33848	protein-coding gene	gene with protein product		613920	"chromosome 2 open reading frame 64"	C2orf64		21457908	Standard	NM_001008215		Approved	MGC52110, FLJ27524, Pet191	uc002syz.3	Q86WW8	OTTHUMG00000153101	ENST00000328709.3:c.134G>A	2.37:g.99220620C>T	ENSP00000330730:p.Gly45Glu			Missense_Mutation	SNP	pfam_Cyt_c_oxidase_assmbl_Pet191	p.G45E	ENST00000328709.3	37	c.134	CCDS33257.1	2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228737	0.58777	.	.	ENSG00000183513	ENST00000328709;ENST00000409997	T;T	0.75938	-0.98;-0.98	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	.	.	.	0.58432	D	0.999999	P	0.41978	0.767	P	0.45138	0.471	T	0.67047	-0.5769	9	0.18710	T	0.47	-0.1325	17.8749	0.88822	0.0:1.0:0.0:0.0	.	45	Q86WW8	COA5_HUMAN	E	45	ENSP00000330730:G45E;ENSP00000386934:G45E	ENSP00000330730:G45E	G	-	2	0	COA5	98587052	1.000000	0.71417	0.971000	0.41717	0.425000	0.31504	6.027000	0.70881	2.697000	0.92050	0.591000	0.81541	GGA	COA5	-	pfam_Cyt_c_oxidase_assmbl_Pet191		0.333	COA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA5	HGNC	protein_coding	OTTHUMT00000329529.2	C	NM_001008215		99220620	-1	no_errors	ENST00000328709	ensembl	human	known	70_37	missense	SNP	0.994	T	T	99220620	C	T	99220620	3	4	153	1	0	0	0	0	1	0	0	0	2188	855	30	1	98	1	C2orf64	2	99220620	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	794409	99220620	143978753	169	26143										
LONRF2	164832	genome.wustl.edu	37	chr2	100915746	100915746	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgagagcccctgactttcttCtgtctcagagtttgggctcc	10	13	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:100915746C>T	ENST00000393437.3	-	6	1942	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E192K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	435							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGACTTTCTTCTGTCTCAGAG	0.438																																																	0													83	84	84					2																	100915746		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1303G>A	2.37:g.100915746C>T	ENSP00000377086:p.Glu435Lys		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E435K	ENST00000393437.3	37	c.1303	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	1.837	-0.468333	0.04445	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85629	-1.83;-2.01	3.96	2.15	0.27550	Zinc finger, RING/FYVE/PHD-type (1);	0.840675	0.10597	N	0.656107	T	0.72011	0.3408	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.53070	-0.8490	10	0.12103	T	0.63	-1.3414	7.6043	0.28093	0.0:0.7476:0.0:0.2524	.	435	Q1L5Z9	LONF2_HUMAN	K	435;192	ENSP00000377086:E435K;ENSP00000386823:E192K	ENSP00000377086:E435K	E	-	1	0	LONRF2	100282178	0.211000	0.23529	0.001000	0.08648	0.007000	0.05969	1.212000	0.32394	0.335000	0.23614	0.555000	0.69702	GAA	LONRF2	-	NULL		0.438	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	C	NM_198461		100915746	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	0.000	T	T	100915746	C	T	100915746	3	4	153	1	0	0	0	0	1	0	0	0	8918	922	32	1	989	1	LONRF2	2	100915746	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1695126	100915746	142283627	170	26144										
CHST10	9486	genome.wustl.edu	37	chr2	101010046	101010046	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catctgtggttcggatcgccGaggtagcgcacgaaatcttc	12	11	2	0	rs146724275		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:101010046G>A	ENST00000264249.3	-	7	1117	c.732C>T	c.(730-732)ctC>ctT	p.L244L	CHST10_ENST00000409701.1_Silent_p.L244L|CHST10_ENST00000542617.1_Silent_p.L292L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	244					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCGGATCGCCGAGGTAGCGCA	0.517																																																	0													261	240	247					2																	101010046		2203	4300	6503	SO:0001819	synonymous_variant	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.732C>T	2.37:g.101010046G>A			Q53T18	Silent	SNP	pfam_Sulfotransferase	p.L292	ENST00000264249.3	37	c.876	CCDS2047.1	2																																																																																			CHST10	-	pfam_Sulfotransferase		0.517	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	G	NM_004854		101010046	-1	no_errors	ENST00000542617	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101010046	G	A	101010046	2	1	153	1	0	0	0	0	0	0	0	1	3403	1045	37	1		1	CHST10	2	101010046	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	94300	101010046	142189327	171	26145										
SLC9A2	6549	genome.wustl.edu	37	chr2	103299770	103299770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtacgtagaagaaaatgtatCtcagaaatcctacacgacca	7	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:103299770C>T	ENST00000233969.2	+	4	1197	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	352					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAAAATGTATCTCAGAAATCC	0.403																																																	0													149	130	137					2																	103299770		2203	4300	6503	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1055C>T	2.37:g.103299770C>T	ENSP00000233969:p.Ser352Phe		B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S352F	ENST00000233969.2	37	c.1055	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300017	0.81136	.	.	ENSG00000115616	ENST00000233969	T	0.18810	2.19	5.43	5.43	0.79202	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	H	0.96208	3.785	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.76000	-0.3119	10	0.87932	D	0	.	19.2349	0.93855	0.0:1.0:0.0:0.0	.	352	Q9UBY0	SL9A2_HUMAN	F	352	ENSP00000233969:S352F	ENSP00000233969:S352F	S	+	2	0	SLC9A2	102666202	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	6.012000	0.70767	2.571000	0.86741	0.561000	0.74099	TCT	SLC9A2	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.403	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103299770	1	no_errors	ENST00000233969	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103299770	C	T	103299770	3	4	153	1	0	0	0	0	1	0	0	0	14742	913	32	1	1069	1	SLC9A2	2	103299770	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2289724	103299770	139899603	172	26146										
SLC9A2	6549	genome.wustl.edu	37	chr2	103318928	103318928	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgatgaaattcgagaactCttatcaagaaatctctatca	5	8	4	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:103318928C>G	ENST00000233969.2	+	9	1954	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	604					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTCGAGAACTCTTATCAAGAA	0.338																																																	0													76	83	80					2																	103318928		2203	4300	6503	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1812C>G	2.37:g.103318928C>G			B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L604	ENST00000233969.2	37	c.1812	CCDS2062.1	2																																																																																			SLC9A2	-	prints_Na/H_exchanger_2,tigrfam_NaH_exchanger		0.338	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103318928	1	no_errors	ENST00000233969	ensembl	human	known	70_37	silent	SNP	0.811	G	G	103318928	C	G	103318928	2	3	153	1	0	0	0	0	0	0	0	1	14742	900	32	1		1	SLC9A2	2	103318928	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	19158	103318928	139880445	173	26147										
NPHP1	4867	genome.wustl.edu	37	chr2	110922134	110922134	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaccagaaatatacgtcctCtgctctgtacattccatgcc	5	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:110922134C>G	ENST00000393272.3	-	8	999	c.902G>C	c.(901-903)aGa>aCa	p.R301T	NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.R301T|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	301					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATACGTCCTCTGCTCTGTAC	0.378																																																	0													175	166	169					2																	110922134		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.902G>C	2.37:g.110922134C>G	ENSP00000376953:p.Arg301Thr		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R301T	ENST00000393272.3	37	c.902	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388744	0.11581	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.60797	0.21;0.16	4.13	-4.91	0.03085	.	1.826670	0.03317	U	0.191381	T	0.30885	0.0779	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.08472	-1.0720	10	0.44086	T	0.13	-0.6455	1.709	0.02888	0.2659:0.429:0.1029:0.2023	.	301;301	O15259;O15259-4	NPHP1_HUMAN;.	T	301	ENSP00000313169:R301T;ENSP00000376953:R301T	ENSP00000313169:R301T	R	-	2	0	NPHP1	110279423	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.030000	0.13688	-0.901000	0.03891	0.655000	0.94253	AGA	NPHP1	-	NULL		0.378	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	C	NM_000272		110922134	-1	no_errors	ENST00000316534	ensembl	human	known	70_37	missense	SNP	0.000	G	G	110922134	C	G	110922134	3	3	153	1	0	0	0	0	1	0	0	0	10603	913	32	1	1351	1	NPHP1	2	110922134	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7603206	110922134	132277239	174	26148										
ZC3H6	376940	genome.wustl.edu	37	chr2	113089379	113089379	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttcaggagctaaattaggaGatcctagactacaaaaaaat	8	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:113089379G>A	ENST00000409871.1	+	12	3285	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D962N|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	962							metal ion binding (GO:0046872)	p.D962Y(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TAAATTAGGAGATCCTAGACT	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											71	67	69					2																	113089379		1855	4092	5947	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2884G>A	2.37:g.113089379G>A	ENSP00000386764:p.Asp962Asn		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D962N	ENST00000409871.1	37	c.2884	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443445	0.83993	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.18174	2.23;2.23	5.79	5.79	0.91817	.	0.485469	0.23779	N	0.044659	T	0.47395	0.1443	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42682	-0.9437	10	0.72032	D	0.01	-21.298	20.0401	0.97581	0.0:0.0:1.0:0.0	.	962	P61129	ZC3H6_HUMAN	N	962	ENSP00000386764:D962N;ENSP00000340298:D962N	ENSP00000340298:D962N	D	+	1	0	ZC3H6	112805850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.716000	0.92895	0.591000	0.81541	GAT	ZC3H6	-	NULL		0.408	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113089379	1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113089379	G	A	113089379	3	1	153	1	0	0	0	0	1	0	0	0	17601	942	33	1	2930	1	ZC3H6	2	113089379	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2167245	113089379	130109994	175	26149										
TFCP2L1	29842	genome.wustl.edu	37	chr2	122007206	122007206	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttccgattctccagtagtcGgatttcataagactgacctg	8	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:122007206G>A	ENST00000263707.5	-	3	329	c.232C>T	c.(232-234)Cga>Tga	p.R78*		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	78					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCCAGTAGTCGGATTTCATAA	0.458																																																	0													107	113	111					2																	122007206		2203	4300	6503	SO:0001587	stop_gained	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.232C>T	2.37:g.122007206G>A	ENSP00000263707:p.Arg78*		Q4ZG43	Nonsense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.R78*	ENST00000263707.5	37	c.232	CCDS2134.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.395234	0.97533	.	.	ENSG00000115112	ENST00000263707	.	.	.	5.76	4.88	0.63580	.	0.129573	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9405	0.64052	0.0:0.0:0.7237:0.2763	.	.	.	.	X	78	.	ENSP00000263707:R78X	R	-	1	2	TFCP2L1	121723676	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.623000	0.61247	1.409000	0.46915	0.655000	0.94253	CGA	TFCP2L1	-	pfam_CP2		0.458	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1	G	NM_014553		122007206	-1	no_errors	ENST00000263707	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	122007206	G	A	122007206	4	1	153	1	0	0	0	0	0	1	0	0	15826	1124	39	2	1259	2	TFCP2L1	2	122007206	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8917827	122007206	121192167	176	26150										
CLASP1	23332	genome.wustl.edu	37	chr2	122363302	122363302	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aattgctagagttcacccaaGaggtagcaagtccatccaca	8	11	1	2	rs373752835		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:122363302G>A	ENST00000263710.4	-	2	559	c.170C>T	c.(169-171)tCt>tTt	p.S57F	CLASP1_ENST00000455322.2_Missense_Mutation_p.S57F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S57F|Y_RNA_ENST00000410535.1_RNA|CLASP1_ENST00000409078.3_Missense_Mutation_p.S57F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S57F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	57					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)			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)					GTTCACCCAAGAGGTAGCAAG	0.443																																																	0													149	141	143					2																	122363302		1970	4153	6123	SO:0001583	missense	23332			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.170C>T	2.37:g.122363302G>A	ENSP00000263710:p.Ser57Phe		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S57F	ENST00000263710.4	37	c.170		2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441700	0.63067	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.82	3.93	0.45458	Armadillo-like helical (1);Armadillo-type fold (1);	0.073249	0.56097	D	0.000028	T	0.54111	0.1838	L	0.51422	1.61	0.80722	D	1	P;D;D;P	0.54772	0.934;0.96;0.968;0.947	P;P;P;P	0.53450	0.564;0.605;0.726;0.481	T	0.58999	-0.7536	10	0.72032	D	0.01	.	13.5124	0.61519	0.0759:0.0:0.9241:0.0	.	57;57;57;57	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	F	57	ENSP00000263710:S57F;ENSP00000389372:S57F;ENSP00000380717:S57F;ENSP00000441625:S57F;ENSP00000386442:S57F	ENSP00000263710:S57F	S	-	2	0	CLASP1	122079772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.174000	0.65015	1.251000	0.43983	0.563000	0.77884	TCT	CLASP1	-	superfamily_ARM-type_fold		0.443	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		G	NM_015282		122363302	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122363302	G	A	122363302	3	1	153	1	0	0	0	0	1	0	0	0	3459	942	33	1	4654	1	CLASP1	2	122363302	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	356096	122363302	120836071	177	26151										
SMPD4	55627	genome.wustl.edu	37	chr2	130910714	130910714	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctccgggtccccctggtactCaatttcaaaccttcgcagcc	7	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:130910714C>A	ENST00000409031.1	-	19	3321	c.2173G>T	c.(2173-2175)Gag>Tag	p.E725*	SMPD4_ENST00000443958.2_Nonsense_Mutation_p.E389*|SMPD4_ENST00000351288.6_Nonsense_Mutation_p.E696*|SMPD4_ENST00000431183.2_Nonsense_Mutation_p.E623*|SMPD4_ENST00000339679.7_Nonsense_Mutation_p.E583*|SMPD4_ENST00000426662.2_Nonsense_Mutation_p.E361*|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000452225.2_Nonsense_Mutation_p.E466*|SMPD4_ENST00000453750.1_Nonsense_Mutation_p.E474*	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	686					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCCTGGTACTCAATTTCAAAC	0.562																																																	0													56	65	62					2																	130910714		2203	4300	6503	SO:0001587	stop_gained	55627			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2173G>T	2.37:g.130910714C>A	ENSP00000386531:p.Glu725*		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Nonsense_Mutation	SNP	NULL	p.E725*	ENST00000409031.1	37	c.2173	CCDS42751.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.411545|6.411545	0.97546|0.97546	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662|ENST00000439886	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.267481|.	0.36303|.	N|.	0.002668|.	.|T	.|0.63248	.|0.2495	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70842	.|-0.4762	.|3	0.06757|.	T|.	0.87|.	.|.	13.8586|13.8586	0.63545|0.63545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	696;725;623;474;389;583;466;361|599	.|.	ENSP00000339721:E583X|.	E|L	-|-	1|3	0|2	SMPD4|SMPD4	130627184|130627184	0.962000|0.962000	0.33011|0.33011	0.899000|0.899000	0.35326|0.35326	0.319000|0.319000	0.28217|0.28217	1.554000|1.554000	0.36266|0.36266	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GAG|TTG	SMPD4	-	NULL		0.562	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	C	NM_017751		130910714	-1	no_errors	ENST00000409031	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	130910714	C	A	130910714	4	1	153	1	0	0	0	0	0	1	0	0	14837	835	29	3	435	3	SMPD4	2	130910714	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8547412	130910714	112288659	178	26152										
THSD7B	80731	genome.wustl.edu	37	chr2	138375966	138375966	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatcctatgcctgtagagtgGagcacatgccagctgagtga	13	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:138375966G>A	ENST00000409968.1	+	19	3748	c.3570G>A	c.(3568-3570)tgG>tgA	p.W1190*	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1162*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1193*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1192	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTAGAGTGGAGCACATGCC	0.498																																																	0													80	87	85					2																	138375966		2084	4212	6296	SO:0001587	stop_gained	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3570G>A	2.37:g.138375966G>A	ENSP00000387145:p.Trp1190*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W1193*	ENST00000409968.1	37	c.3579		2	.	.	.	.	.	.	.	.	.	.	G	44	10.813582	0.99471	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	.	.	.	X	1190;1193;1162	.	ENSP00000272643:W1193X	W	+	3	0	THSD7B	138092436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.567000	0.86603	0.650000	0.86243	TGG	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138375966	1	no_errors	ENST00000272643	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	138375966	G	A	138375966	4	1	153	1	0	0	0	0	0	1	0	0	15910	1183	41	1	3552	1	THSD7B	2	138375966	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7465252	138375966	104823407	179	26153										
LRP1B	53353	genome.wustl.edu	37	chr2	141093358	141093358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatcagtccagtaaatgtttCcagccacccagtcaactgca	7	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:141093358C>T	ENST00000389484.3	-	78	12913	c.11942G>A	c.(11941-11943)gGa>gAa	p.G3981E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3981					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAAATGTTTCCAGCCACCCA	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													127	121	123					2																	141093358		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11942G>A	2.37:g.141093358C>T	ENSP00000374135:p.Gly3981Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G3981E	ENST00000389484.3	37	c.11942	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.366985|4.366985	0.82463|0.82463	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.93366	.|-3.21	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95478|0.95478	0.8531|0.8531	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.93115|0.93115	0.6520|0.6520	5|10	.|0.18276	.|T	.|0.48	.|.	19.2802|19.2802	0.94050|0.94050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3981	.|Q9NZR2	.|LRP1B_HUMAN	K|E	213|3981;3919	.|ENSP00000374135:G3981E	.|ENSP00000374135:G3981E	E|G	-|-	1|2	0|0	LRP1B|LRP1B	140809828|140809828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.356000|7.356000	0.79445|0.79445	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	GAA|GGA	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141093358	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141093358	C	T	141093358	3	4	153	1	0	0	0	0	1	0	0	0	8978	855	30	1	1913	1	LRP1B	2	141093358	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2717392	141093358	102106015	180	26154										
EPC2	26122	genome.wustl.edu	37	chr2	149447933	149447933	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacagccaaaacagttcattCatattcagcgtaagtttgtt	6	8	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:149447933C>G	ENST00000258484.6	+	2	338	c.304C>G	c.(304-306)Cat>Gat	p.H102D	EPC2_ENST00000409654.1_Missense_Mutation_p.H102D	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	102					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACAGTTCATTCATATTCAGCG	0.328																																																	0													178	170	173					2																	149447933		1840	4097	5937	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.304C>G	2.37:g.149447933C>G	ENSP00000258484:p.His102Asp		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.H102D	ENST00000258484.6	37	c.304	CCDS46422.1	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710549	0.89112	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000409654;ENST00000397424;ENST00000449013	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.67	5.67	0.87782	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.83953	2.67	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.73430	-0.3985	10	0.87932	D	0	-3.9714	19.7784	0.96405	0.0:1.0:0.0:0.0	.	102	Q52LR7	EPC2_HUMAN	D	78;102;102;31;51	ENSP00000415543:H78D;ENSP00000258484:H102D;ENSP00000387097:H102D;ENSP00000380569:H31D;ENSP00000395431:H51D	ENSP00000258484:H102D	H	+	1	0	EPC2	149164403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.658000	0.90341	0.591000	0.81541	CAT	EPC2	-	pfam_Enhancer_polycomb-like_N		0.328	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1	C	NM_015630		149447933	1	no_errors	ENST00000258484	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149447933	C	G	149447933	3	3	153	1	0	0	0	0	1	0	0	0	5173	826	29	1	310	1	EPC2	2	149447933	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8354575	149447933	93751440	181	26155										
NEB	4703	genome.wustl.edu	37	chr2	152374864	152374864	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctgtggcctcttttaggtGaagctgctccagattatcgg	11	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152374864G>T	ENST00000172853.10	-	128	17812	c.17665C>A	c.(17665-17667)Cac>Aac	p.H5889N	NEB_ENST00000604864.1_Missense_Mutation_p.H7590N|NEB_ENST00000397345.3_Missense_Mutation_p.H7590N|NEB_ENST00000427231.2_Missense_Mutation_p.H7590N|NEB_ENST00000603639.1_Missense_Mutation_p.H7590N|NEB_ENST00000409198.1_Missense_Mutation_p.H5889N			P20929	NEBU_HUMAN	nebulin	5889					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTTTAGGTGAAGCTGCTCC	0.433																																																	0													316	303	307					2																	152374864		1914	4123	6037	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17665C>A	2.37:g.152374864G>T	ENSP00000172853:p.His5889Asn		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H7590N	ENST00000172853.10	37	c.22768		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.837745|3.837745	0.71373|0.71373	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.55234	.|0.53;0.53;0.53;0.53;0.53	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73830|0.73830	0.3637|0.3637	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.989;0.97	.|D;D;P	.|0.87578	.|0.998;0.962;0.799	T|T	0.71523|0.71523	-0.4567|-0.4567	5|10	.|0.39692	.|T	.|0.17	.|.	19.8351|19.8351	0.96655|0.96655	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5889;7590;2320	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	L|N	212|5889;7590;7590;1938;2320;5889	.|ENSP00000386259:H5889N;ENSP00000380505:H7590N;ENSP00000416578:H7590N;ENSP00000410961:H2320N;ENSP00000172853:H5889N	.|ENSP00000172853:H5889N	F|H	-|-	3|1	2|0	NEB|NEB	152083110|152083110	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.736000|0.736000	0.42039|0.42039	9.869000|9.869000	0.99810|0.99810	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	TTC|CAC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152374864	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152374864	G	T	152374864	3	4	153	1	0	0	0	0	1	0	0	0	10326	1290	45	3	2917	3	NEB	2	152374864	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2926931	152374864	90824509	182	26156										
NEB	4703	genome.wustl.edu	37	chr2	152473963	152473963	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagttttcttgtcattgtccCaggcttcagtatataagcgc	8	9	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152473963C>G	ENST00000172853.10	-	71	10514	c.10367G>C	c.(10366-10368)tGg>tCg	p.W3456S	NEB_ENST00000604864.1_Missense_Mutation_p.W3699S|NEB_ENST00000397345.3_Missense_Mutation_p.W3699S|NEB_ENST00000427231.2_Missense_Mutation_p.W3699S|NEB_ENST00000603639.1_Missense_Mutation_p.W3699S|NEB_ENST00000409198.1_Missense_Mutation_p.W3456S			P20929	NEBU_HUMAN	nebulin	3456					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCATTGTCCCAGGCTTCAGT	0.333																																																	0													103	85	91					2																	152473963		1825	4078	5903	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10367G>C	2.37:g.152473963C>G	ENSP00000172853:p.Trp3456Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.W3699S	ENST00000172853.10	37	c.11096		2	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913185	0.72983	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.90369	3.11	0.80722	D	1	P	0.37207	0.587	B	0.41174	0.349	T	0.66937	-0.5797	10	0.35671	T	0.21	.	19.1257	0.93382	0.0:1.0:0.0:0.0	.	3456	P20929	NEBU_HUMAN	S	3456;3699;3699;3456	ENSP00000386259:W3456S;ENSP00000380505:W3699S;ENSP00000416578:W3699S;ENSP00000172853:W3456S	ENSP00000172853:W3456S	W	-	2	0	NEB	152182209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.881000	0.63114	2.597000	0.87782	0.591000	0.81541	TGG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152473963	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152473963	C	G	152473963	3	3	153	1	0	0	0	0	1	0	0	0	10326	595	21	4	15022	4	NEB	2	152473963	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	99099	152473963	90725410	183	26157										
NEB	4703	genome.wustl.edu	37	chr2	152492755	152492755	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actcacgtcactgatgatgtCcctggaggccttggccgcca	11	14	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152492755C>T	ENST00000172853.10	-	62	9037				NEB_ENST00000604864.1_Missense_Mutation_p.D3030N|NEB_ENST00000397345.3_Missense_Mutation_p.D3030N|NEB_ENST00000427231.2_Missense_Mutation_p.D3030N|NEB_ENST00000603639.1_Missense_Mutation_p.D3030N|NEB_ENST00000409198.1_Intron			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATGATGTCCCTGGAGGCC	0.433																																																	0													120	114	116					2																	152492755		692	1591	2283	SO:0001627	intron_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8889+3615G>A	2.37:g.152492755C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D3030N	ENST00000172853.10	37	c.9088		2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517735	0.64634	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.07800	3.16;3.16	5.96	5.96	0.96718	.	.	.	.	.	T	0.27241	0.0668	M	0.80183	2.485	0.80722	D	1	.	.	.	.	.	.	T	0.00745	-1.1584	7	0.21014	T	0.42	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	N	3030	ENSP00000380505:D3030N;ENSP00000416578:D3030N	ENSP00000380505:D3030N	D	-	1	0	NEB	152201001	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.483000	0.53194	2.826000	0.97356	0.655000	0.94253	GAC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152492755	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152492755	C	T	152492755	1	4	153	0	1	0	0	0	0	0	0	0	10326	855	30	1		1	NEB	2	152492755	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	18792	152492755	90706618	184	26158										
CACNB4	785	genome.wustl.edu	37	chr2	152698533	152698533	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtggcacgccagtacgcctCcaggtactcccctagatgtt	11	14	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152698533C>G	ENST00000539935.1	-	13	1253	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	CACNB4_ENST00000534999.1_Missense_Mutation_p.E362Q|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000360283.6_Missense_Mutation_p.E363Q|CACNB4_ENST00000427385.1_Missense_Mutation_p.E378Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.E349Q	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	396					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGTACGCCTCCAGGTACTCC	0.498																																																	0													123	123	123					2																	152698533		2056	4205	6261	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1186G>C	2.37:g.152698533C>G	ENSP00000438949:p.Glu396Gln		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.E397Q	ENST00000539935.1	37	c.1189	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.067782	0.93950	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000339254	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.24	5.24	0.73138	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.993;0.988	T	0.82178	-0.0586	10	0.87932	D	0	-19.129	19.1984	0.93699	0.0:1.0:0.0:0.0	.	396;378;362	O00305;B4DG40;O00305-2	CACB4_HUMAN;.;.	Q	396;363;391;362;349;378;397	ENSP00000438949:E396Q;ENSP00000353425:E363Q;ENSP00000390161:E391Q;ENSP00000443893:E362Q;ENSP00000380490:E349Q;ENSP00000410978:E378Q	ENSP00000343563:E397Q	E	-	1	0	CACNB4	152406779	1.000000	0.71417	0.798000	0.32154	0.953000	0.61014	7.754000	0.85163	2.609000	0.88269	0.655000	0.94253	GAG	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3		152698533	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152698533	C	G	152698533	3	3	153	1	0	0	0	0	1	0	0	0	2560	864	30	1	384	1	CACNB4	2	152698533	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	205778	152698533	90500840	185	26159										
TANC1	85461	genome.wustl.edu	37	chr2	160086342	160086342	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaaacttctccccaggaaGaatctgtttccccaactccc	5	15	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:160086342G>C	ENST00000263635.6	+	27	4642	c.4405G>C	c.(4405-4407)Gaa>Caa	p.E1469Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E1363Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1469					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCCCAGGAAGAATCTGTTTC	0.522																																																	0													95	105	102					2																	160086342		1970	4139	6109	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4405G>C	2.37:g.160086342G>C	ENSP00000263635:p.Glu1469Gln		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1469Q	ENST00000263635.6	37	c.4405	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471458	0.43942	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70516	-0.49;-0.49	5.59	5.59	0.84812	.	0.369963	0.30142	N	0.010303	T	0.64735	0.2625	L	0.40543	1.245	0.40530	D	0.98092	P	0.43169	0.8	B	0.38562	0.276	T	0.64219	-0.6459	9	.	.	.	.	19.9803	0.97323	0.0:0.0:1.0:0.0	.	1469	Q9C0D5	TANC1_HUMAN	Q	1363;1469	ENSP00000396339:E1363Q;ENSP00000263635:E1469Q	.	E	+	1	0	TANC1	159794588	1.000000	0.71417	0.921000	0.36526	0.749000	0.42624	4.945000	0.63568	2.806000	0.96561	0.655000	0.94253	GAA	TANC1	-	NULL		0.522	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160086342	1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	0.970	C	C	160086342	G	C	160086342	3	2	153	1	0	0	0	0	1	0	0	0	15574	943	33	1	4508	1	TANC1	2	160086342	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7387809	160086342	83113031	186	26160										
BAZ2B	29994	genome.wustl.edu	37	chr2	160287406	160287406	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgaagtaagtgtggaagaaGatgtaccaagaaaagcaggt	13	3	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:160287406G>C	ENST00000392783.2	-	10	2657	c.2162C>G	c.(2161-2163)tCt>tGt	p.S721C	BAZ2B_ENST00000392782.1_Missense_Mutation_p.S719C|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S721C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGGAAGAAGATGTACCAAG	0.418																																																	0													127	122	124					2																	160287406		1903	4130	6033	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2162C>G	2.37:g.160287406G>C	ENSP00000376534:p.Ser721Cys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S721C	ENST00000392783.2	37	c.2162	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449931	0.26074	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.23950	1.88;1.88;1.88	5.64	5.64	0.86602	DNA-binding, integrase-type (1);	0.245701	0.20816	U	0.085150	T	0.34483	0.0899	L	0.27053	0.805	0.80722	D	1	P;D;D	0.63046	0.948;0.992;0.968	P;P;P	0.57468	0.54;0.821;0.547	T	0.04191	-1.0970	10	0.56958	D	0.05	-2.4105	16.6706	0.85266	0.0:0.1294:0.8706:0.0	.	525;719;721	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	C	719;721;721	ENSP00000376533:S719C;ENSP00000376534:S721C;ENSP00000348087:S721C	ENSP00000348087:S721C	S	-	2	0	BAZ2B	159995652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.286000	0.65639	2.659000	0.90383	0.643000	0.83706	TCT	BAZ2B	-	superfamily_DNA-bd_integrase-typ		0.418	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	G			160287406	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160287406	G	C	160287406	3	2	153	1	0	0	0	0	1	0	0	0	1333	942	33	1	4456	1	BAZ2B	2	160287406	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	201064	160287406	82911967	187	26161										
LY75	4065	genome.wustl.edu	37	chr2	160755557	160755557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtatttccatggacgatggtGaaggggtcattagctgagtc	14	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:160755557G>A	ENST00000263636.4	-	2	135	c.108C>T	c.(106-108)ttC>ttT	p.F36F	LY75-CD302_ENST00000504764.1_Silent_p.F36F|LY75-CD302_ENST00000505052.1_Silent_p.F36F|LY75_ENST00000554112.1_Silent_p.F36F|LY75_ENST00000553424.1_Silent_p.F36F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	36	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGACGATGGTGAAGGGGTCAT	0.498																																																	0													156	150	152					2																	160755557		2203	4300	6503	SO:0001819	synonymous_variant	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.108C>T	2.37:g.160755557G>A			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.F36	ENST00000263636.4	37	c.108	CCDS2211.1	2																																																																																			LY75	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.498	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	G			160755557	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	silent	SNP	1.000	A	A	160755557	G	A	160755557	2	1	153	1	0	0	0	0	0	0	0	1	9122	1281	45	1		1	LY75	2	160755557	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	468151	160755557	82443816	188	26162										
SLC4A10	57282	genome.wustl.edu	37	chr2	162833298	162833298	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catctgtgatcaatatatctGatgaaatgtcaaagactgcc	7	8	4	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:162833298G>C	ENST00000446997.1	+	25	3349	c.3256G>C	c.(3256-3258)Gat>Cat	p.D1086H	SLC4A10_ENST00000375514.5_Missense_Mutation_p.D1067H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D1056H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D1056H|SLC4A10_ENST00000421911.1_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1086					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CAATATATCTGATGAAATGTC	0.358																																																	0													57	53	54					2																	162833298		1840	4083	5923	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3256G>C	2.37:g.162833298G>C	ENSP00000393066:p.Asp1086His		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.D1086H	ENST00000446997.1	37	c.3256	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514908	0.85389	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.80909	-1.43;-1.42;-1.41;-1.42	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.95	D	0.89198	0.3555	10	0.49607	T	0.09	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1067;1056;1086	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	H	1067;1056;1056;1055;1086;1085	ENSP00000364664:D1067H;ENSP00000395797:D1056H;ENSP00000272716:D1056H;ENSP00000393066:D1086H	ENSP00000272716:D1056H	D	+	1	0	SLC4A10	162541544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.861000	0.98227	0.655000	0.94253	GAT	SLC4A10	-	NULL		0.358	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162833298	1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	1.000	C	C	162833298	G	C	162833298	3	2	153	1	0	0	0	0	1	0	0	0	14681	1290	45	1	3439	1	SLC4A10	2	162833298	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2077741	162833298	80366075	189	26163										
SCN3A	6328	genome.wustl.edu	37	chr2	165984182	165984182	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgactcactgctgaactcttCagtatttaagttttcaaagt	6	8	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:165984182C>T	ENST00000360093.3	-	18	3843	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E1069K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1118K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1118					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAACTCTTCAGTATTTAAG	0.358																																																	0													83	80	81					2																	165984182		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3352G>A	2.37:g.165984182C>T	ENSP00000353206:p.Glu1118Lys		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E1118K	ENST00000360093.3	37	c.3352		2	.	.	.	.	.	.	.	.	.	.	C	32	5.193037	0.94960	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.93	5.93	0.95920	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000006	D	0.92698	0.7679	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.993;0.992;0.991;0.991;0.999	D	0.92591	0.6083	10	0.87932	D	0	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1118;1069;1069;1069;1118	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	1118;1118;1069;1069	ENSP00000353206:E1118K;ENSP00000283254:E1118K;ENSP00000386726:E1069K;ENSP00000403348:E1069K	ENSP00000283254:E1118K	E	-	1	0	SCN3A	165692428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.772000	0.85439	2.815000	0.96918	0.561000	0.74099	GAA	SCN3A	-	pfam_Na_trans_assoc		0.358	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		C	NM_006922		165984182	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	T	T	165984182	C	T	165984182	3	4	153	1	0	0	0	0	1	0	0	0	13948	835	29	1	2694	1	SCN3A	2	165984182	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3150884	165984182	77215191	190	26164										
SCN7A	6332	genome.wustl.edu	37	chr2	167319025	167319025	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagcttttacacacacataTccttcaggacactgactaaa	4	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:167319025T>A	ENST00000409855.1	-	9	1083	c.957A>T	c.(955-957)ggA>ggT	p.G319G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	319					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CACACACATATCCTTCAGGAC	0.383																																																	0													68	61	63					2																	167319025		1855	4098	5953	SO:0001819	synonymous_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.957A>T	2.37:g.167319025T>A				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.G319	ENST00000409855.1	37	c.957	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Ion_trans_dom		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	T			167319025	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	silent	SNP	0.242	A	A	167319025	T	A	167319025	2	1	153	1	0	0	0	0	0	0	0	1	13953	1422	50	5		5	SCN7A	2	167319025	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	1334843	167319025	75880348	191	26165										
ABCB11	8647	genome.wustl.edu	37	chr2	169801175	169801175	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatgctccagggctatttctGaggtcatcaaaccaggcaat	9	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:169801175G>A	ENST00000263817.6	-	21	2674	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	850	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGCTATTTCTGAGGTCATCAA	0.448																																																	0													176	164	168					2																	169801175		1896	4120	6016	SO:0001819	synonymous_variant	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2550C>T	2.37:g.169801175G>A			Q53TL2|Q9UNB2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L850	ENST00000263817.6	37	c.2550	CCDS46444.1	2																																																																																			ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169801175	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	silent	SNP	0.925	A	A	169801175	G	A	169801175	2	1	153	1	0	0	0	0	0	0	0	1	42	1277	45	1		1	ABCB11	2	169801175	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2482150	169801175	73398198	192	26166										
LRP2	4036	genome.wustl.edu	37	chr2	170022556	170022556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acggtttggtgaattacaggGaacatccactgaaaggaaag	12	6	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:170022556G>A	ENST00000263816.3	-	62	11929	c.11644C>T	c.(11644-11646)Ccc>Tcc	p.P3882S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3882	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GAATTACAGGGAACATCCACT	0.408																																																	0													137	127	131					2																	170022556		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11644C>T	2.37:g.170022556G>A	ENSP00000263816:p.Pro3882Ser		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P3882S	ENST00000263816.3	37	c.11644	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614945	0.14129	.	.	ENSG00000081479	ENST00000263816	D	0.95554	-3.74	6.06	-1.71	0.08133	.	0.810358	0.11796	N	0.528651	D	0.83110	0.5183	N	0.03967	-0.31	0.32764	N	0.504712	B	0.18310	0.027	B	0.19666	0.026	T	0.73745	-0.3886	10	0.08837	T	0.75	.	5.015	0.14331	0.1179:0.4362:0.2669:0.179	.	3882	P98164	LRP2_HUMAN	S	3882	ENSP00000263816:P3882S	ENSP00000263816:P3882S	P	-	1	0	LRP2	169730802	0.898000	0.30612	0.004000	0.12327	0.392000	0.30506	0.059000	0.14322	-0.668000	0.05296	0.650000	0.86243	CCC	LRP2	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170022556	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.506	A	A	170022556	G	A	170022556	3	1	153	1	0	0	0	0	1	0	0	0	8979	1174	41	1	2395	1	LRP2	2	170022556	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	221381	170022556	73176817	193	26167										
LRP2	4036	genome.wustl.edu	37	chr2	170029697	170029697	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggtaatttgttttgcagctGaattctgtgaagttgtcaca	10	6	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:170029697G>A	ENST00000263816.3	-	57	11337	c.11052C>T	c.(11050-11052)ttC>ttT	p.F3684F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3684	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTTGCAGCTGAATTCTGTGA	0.493																																																	0													105	100	102					2																	170029697		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11052C>T	2.37:g.170029697G>A			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F3684	ENST00000263816.3	37	c.11052	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170029697	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	1.000	A	A	170029697	G	A	170029697	2	1	153	1	0	0	0	0	0	0	0	1	8979	1281	45	1		1	LRP2	2	170029697	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7141	170029697	73169676	194	26168										
DYNC1I2	1781	genome.wustl.edu	37	chr2	172585296	172585296	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctatgtccttccctgttggaGatgtcaacaactttgttgtt	8	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:172585296G>A	ENST00000397119.3	+	14	1494	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	DYNC1I2_ENST00000534253.2_Missense_Mutation_p.D443N|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.D443N|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.D435N|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.D435N|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.D417N|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.D437N|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.D443N|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.D437N|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.D417N|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.D417N	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	443					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CCCTGTTGGAGATGTCAACAA	0.393																																																	0													66	65	65					2																	172585296		1867	4095	5962	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1327G>A	2.37:g.172585296G>A	ENSP00000380308:p.Asp443Asn		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D443N	ENST00000397119.3	37	c.1327	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691290	0.88735	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.79247	-1.12;-1.25;-1.12;-1.03;-0.89;-0.89;-1.12;-1.12;-1.03;-0.88;-0.89	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.56199	1.76	0.80722	D	1	B;D;P;P;D	0.89917	0.187;1.0;0.485;0.485;1.0	B;D;B;B;D	0.91635	0.134;0.999;0.346;0.398;0.999	D	0.85259	0.1049	10	0.51188	T	0.08	-24.0855	20.6593	0.99626	0.0:0.0:1.0:0.0	.	166;435;417;417;443	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	N	417;443;437;443;435;417;417;437;443;443;435	ENSP00000339430:D417N;ENSP00000433791:D443N;ENSP00000263811:D437N;ENSP00000380308:D443N;ENSP00000386522:D435N;ENSP00000423339:D417N;ENSP00000386397:D417N;ENSP00000386591:D437N;ENSP00000386415:D443N;ENSP00000386886:D443N;ENSP00000350692:D435N	ENSP00000263811:D437N	D	+	1	0	DYNC1I2	172293542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAT	DYNC1I2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.393	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	G	NM_001378		172585296	1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	A	A	172585296	G	A	172585296	3	1	153	1	0	0	0	0	1	0	0	0	4853	942	33	1	1377	1	DYNC1I2	2	172585296	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2555599	172585296	70614077	195	26169										
PDK1	5163	genome.wustl.edu	37	chr2	173451105	173451105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcgtgttgagacctcccgcGcagtgcctctggtatgttat	11	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:173451105G>A	ENST00000282077.3	+	9	1227	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDK1_ENST00000410055.1_Missense_Mutation_p.A349T|PDK1_ENST00000543905.1_Missense_Mutation_p.A273T|PDK1_ENST00000392571.2_Missense_Mutation_p.A369T|PDK1_ENST00000544863.1_Missense_Mutation_p.A194T			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	349	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GACCTCCCGCGCAGTGCCTCT	0.448									Autosomal Dominant Polycystic Kidney Disease																																								0													94	79	84					2																	173451105		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1045G>A	2.37:g.173451105G>A	ENSP00000282077:p.Ala349Thr		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.A349T	ENST00000282077.3	37	c.1045	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779041	0.31502	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.3	5.3	0.74995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.049525	0.85682	D	0.000000	T	0.31389	0.0795	N	0.04335	-0.225	0.80722	D	1	B;B	0.30021	0.028;0.265	B;B	0.29785	0.007;0.107	T	0.21621	-1.0240	10	0.08837	T	0.75	-7.5807	18.9633	0.92685	0.0:0.0:1.0:0.0	.	349;369	Q15118;E9PD65	PDK1_HUMAN;.	T	273;194;349;369;349	ENSP00000438567:A273T;ENSP00000437502:A194T;ENSP00000282077:A349T;ENSP00000376352:A369T;ENSP00000386985:A349T	ENSP00000282077:A349T	A	+	1	0	PDK1	173159351	1.000000	0.71417	0.564000	0.28396	0.217000	0.24651	7.822000	0.86651	2.485000	0.83878	0.557000	0.71058	GCA	PDK1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.448	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	HGNC	protein_coding	OTTHUMT00000255380.3	G	NM_002610		173451105	1	no_errors	ENST00000282077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173451105	G	A	173451105	3	1	153	1	0	0	0	0	1	0	0	0	11699	1087	38	2	1079	2	PDK1	2	173451105	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	865809	173451105	69748268	196	26170										
GPR155	151556	genome.wustl.edu	37	chr2	175311387	175311387	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacagcaacacatgtcgggtCagttgctggtctccactctg	10	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:175311387C>T	ENST00000392552.2	-	12	2203	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	GPR155_ENST00000295500.4_Silent_p.L655L|GPR155_ENST00000392551.2_Silent_p.L655L|GPR155_ENST00000459996.1_5'Flank	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	655					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CATGTCGGGTCAGTTGCTGGT	0.423																																																	0													223	204	210					2																	175311387		2203	4300	6503	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1965G>A	2.37:g.175311387C>T			B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.L655	ENST00000392552.2	37	c.1965	CCDS2259.1	2																																																																																			GPR155	-	NULL		0.423	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	C	NM_152529		175311387	-1	no_errors	ENST00000295500	ensembl	human	known	70_37	silent	SNP	1.000	T	T	175311387	C	T	175311387	2	4	153	1	0	0	0	0	0	0	0	1	6679	813	29	1		1	GPR155	2	175311387	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1860282	175311387	67887986	197	26171										
TTN	7273	genome.wustl.edu	37	chr2	179426582	179426582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaggtggtttctttcttttCaacaatgtaattgctaattt	7	5	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179426582C>T	ENST00000591111.1	-	276	79578	c.79354G>A	c.(79354-79356)Gaa>Aaa	p.E26452K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19153K|TTN_ENST00000460472.2_Missense_Mutation_p.E19028K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28093K|TTN_ENST00000342992.6_Missense_Mutation_p.E25525K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19220K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26452	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTTTCAACAATGTAA	0.393																																																	0													52	50	51					2																	179426582		1886	4118	6004	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79354G>A	2.37:g.179426582C>T	ENSP00000465570:p.Glu26452Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E25525K	ENST00000591111.1	37	c.76573		2	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297915	0.60086	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83069	0.5174	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.86899	0.2053	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	19028;19153;19220;26452	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25525;19028;19220;19153;19026	ENSP00000343764:E25525K;ENSP00000434586:E19028K;ENSP00000340554:E19220K;ENSP00000352154:E19153K	ENSP00000340554:E19220K	E	-	1	0	TTN	179134828	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179426582	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179426582	C	T	179426582	3	4	153	1	0	0	0	0	1	0	0	0	16766	835	29	1	23850	1	TTN	2	179426582	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4115195	179426582	63772791	198	26172										
TTN	7273	genome.wustl.edu	37	chr2	179429007	179429007	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctcctgcatgaacaacgatGacatctttatattttggatc	6	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179429007G>C	ENST00000591111.1	-	276	77153	c.76929C>G	c.(76927-76929)gtC>gtG	p.V25643V	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V18344V|TTN_ENST00000460472.2_Silent_p.V18219V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V27284V|TTN_ENST00000342992.6_Silent_p.V24716V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.V18411V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25643	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGATGACATCTTTAT	0.408																																																	0													146	143	144					2																	179429007		1919	4133	6052	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76929C>G	2.37:g.179429007G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V24716	ENST00000591111.1	37	c.74148		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179429007	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.949	C	C	179429007	G	C	179429007	2	2	153	1	0	0	0	0	0	0	0	1	16766	1277	45	1		1	TTN	2	179429007	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2425	179429007	63770366	199	26173										
TTN	7273	genome.wustl.edu	37	chr2	179452710	179452710	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgggcacacaccctgaactCatattcctggttttcatcca	6	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179452710C>G	ENST00000591111.1	-	255	58725	c.58501G>C	c.(58501-58503)Gag>Cag	p.E19501Q	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12202Q|TTN_ENST00000460472.2_Missense_Mutation_p.E12077Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21142Q|TTN_ENST00000342992.6_Missense_Mutation_p.E18574Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12269Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19501	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTGAACTCATATTCCTGG	0.468																																																	0													63	60	61					2																	179452710		1915	4124	6039	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58501G>C	2.37:g.179452710C>G	ENSP00000465570:p.Glu19501Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E18574Q	ENST00000591111.1	37	c.55720		2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593527	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60818	0.2298	N	0.17594	0.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.961;0.961;0.961;0.979	T	0.66101	-0.6007	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	12077;12202;12269;19501	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18574;12077;12269;12202;12075	ENSP00000343764:E18574Q;ENSP00000434586:E12077Q;ENSP00000340554:E12269Q;ENSP00000352154:E12202Q	ENSP00000340554:E12269Q	E	-	1	0	TTN	179160956	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.729000	0.93468	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179452710	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179452710	C	G	179452710	3	3	153	1	0	0	0	0	1	0	0	0	16766	835	29	1	44787	1	TTN	2	179452710	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	23703	179452710	63746663	200	26174										
TTN	7273	genome.wustl.edu	37	chr2	179486048	179486048	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaattcagccttttctccttCaagtatttcaaggttttgag	6	8	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179486048C>G	ENST00000591111.1	-	196	40698	c.40474G>C	c.(40474-40476)Gaa>Caa	p.E13492Q	TTN_ENST00000359218.5_Missense_Mutation_p.E6193Q|TTN_ENST00000460472.2_Missense_Mutation_p.E6068Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15133Q|TTN_ENST00000342992.6_Missense_Mutation_p.E12565Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6260Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13492	Ig-like 91.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTCCTTCAAGTATTTCA	0.348																																																	0													92	79	83					2																	179486048		1814	4070	5884	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40474G>C	2.37:g.179486048C>G	ENSP00000465570:p.Glu13492Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12565Q	ENST00000591111.1	37	c.37693		2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126942	0.56721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75679	0.3882	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77550	-0.2546	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	6068;6193;6260;13492	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12565;6068;6260;6193;6068	ENSP00000343764:E12565Q;ENSP00000434586:E6068Q;ENSP00000340554:E6260Q;ENSP00000352154:E6193Q	ENSP00000340554:E6260Q	E	-	1	0	TTN	179194293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486048	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179486048	C	G	179486048	3	3	153	1	0	0	0	0	1	0	0	0	16766	835	29	1	62764	1	TTN	2	179486048	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	33338	179486048	63713325	201	26175										
TTN	7273	genome.wustl.edu	37	chr2	179589076	179589076	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcatcttgcctttcaactGagagaatccttaaggaagag	9	9	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179589076G>C	ENST00000591111.1	-	70	20299	c.20075C>G	c.(20074-20076)tCa>tGa	p.S6692*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.S7009*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S5765*|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12295	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTCAACTGAGAGAATCCT	0.418																																																	0													88	83	85					2																	179589076		1900	4128	6028	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20075C>G	2.37:g.179589076G>C	ENSP00000465570:p.Ser6692*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S5765*	ENST00000591111.1	37	c.17294		2	.	.	.	.	.	.	.	.	.	.	G	57	29.597482	0.99976	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.02	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2362	0.43284	0.0713:0.0:0.7638:0.1649	.	.	.	.	X	5765	.	ENSP00000343764:S5765X	S	-	2	0	TTN	179297321	0.649000	0.27322	0.878000	0.34440	0.731000	0.41821	2.965000	0.49200	1.561000	0.49584	0.655000	0.94253	TCA	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179589076	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.662	C	C	179589076	G	C	179589076	4	2	153	1	0	0	0	0	0	1	0	0	16766	1294	45	1	83667	1	TTN	2	179589076	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	103028	179589076	63610297	202	26176										
TTN	7273	genome.wustl.edu	37	chr2	179611025	179611025	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctaaatcaatttttagttCtttgtcttctccctcccttg	3	11	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179611025C>G	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E5368Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTTAGTTCTTTGTCTTCT	0.318																																																	0													51	47	49					2																	179611025		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4377G>C	2.37:g.179611025C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E5368Q	ENST00000591111.1	37	c.16102		2	.	.	.	.	.	.	.	.	.	.	C	8.211	0.800354	0.16397	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.88	5.88	0.94601	.	.	.	.	.	T	0.51941	0.1704	L	0.36672	1.1	0.80722	D	1	B	0.15930	0.015	B	0.15870	0.014	T	0.38112	-0.9676	9	0.32370	T	0.25	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	5368	Q8WZ42-6	.	Q	5368;649	ENSP00000354117:E5368Q	ENSP00000304714:E649Q	E	-	1	0	TTN	179319270	1.000000	0.71417	0.993000	0.49108	0.140000	0.21249	5.999000	0.70665	2.782000	0.95742	0.655000	0.94253	GAA	TTN	-	NULL		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179611025	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179611025	C	G	179611025	1	3	153	0	1	0	0	0	0	0	0	0	16766	922	32	1		1	TTN	2	179611025	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	21949	179611025	63588348	203	26177										
TTN	7273	genome.wustl.edu	37	chr2	179616464	179616464	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgatggtgtaaatcactctCagcttttataatccgacgaa	8	8	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179616464C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3555Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATCACTCTCAGCTTTTATA	0.398																																																	0													77	79	78					2																	179616464		2202	4300	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1386G>C	2.37:g.179616464C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E3555Q	ENST00000591111.1	37	c.10663		2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721793	0.48728	.	.	ENSG00000155657	ENST00000360870	T	0.68624	-0.34	5.86	4.08	0.47627	.	.	.	.	.	T	0.49457	0.1558	N	0.16037	0.36	0.80722	D	1	P	0.49783	0.928	B	0.43103	0.408	T	0.40720	-0.9548	9	0.25106	T	0.35	.	12.4839	0.55861	0.0:0.8634:0.0:0.1366	.	3555	Q8WZ42-6	.	Q	3555	ENSP00000354117:E3555Q	ENSP00000354117:E3555Q	E	-	1	0	TTN	179324709	0.997000	0.39634	0.997000	0.53966	0.933000	0.57130	3.329000	0.52060	0.836000	0.34901	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179616464	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179616464	C	G	179616464	1	3	153	0	1	0	0	0	0	0	0	0	16766	835	29	1		1	TTN	2	179616464	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5439	179616464	63582909	204	26178										
TTN	7273	genome.wustl.edu	37	chr2	179638336	179638336	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcatcaggcttgatttgttCatcatttaagtaccacttaa	6	8	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179638336C>T	ENST00000591111.1	-	32	7671	c.7447G>A	c.(7447-7449)Gaa>Aaa	p.E2483K	TTN_ENST00000359218.5_Missense_Mutation_p.E2437K|TTN_ENST00000460472.2_Missense_Mutation_p.E2437K|TTN_ENST00000589042.1_Missense_Mutation_p.E2483K|TTN_ENST00000342992.6_Missense_Mutation_p.E2483K|TTN_ENST00000360870.5_Missense_Mutation_p.E2483K|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2437K|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12804	Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATTTGTTCATCATTTAAG	0.423																																																	0													128	117	121					2																	179638336		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7447G>A	2.37:g.179638336C>T	ENSP00000465570:p.Glu2483Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2483K	ENST00000591111.1	37	c.7447		2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783074	0.31593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41719	0.1171	N	0.02412	-0.56	0.26746	N	0.970284	B;B;B;B;B	0.24823	0.003;0.003;0.003;0.003;0.112	B;B;B;B;B	0.17722	0.008;0.008;0.008;0.008;0.019	T	0.31696	-0.9934	9	0.87932	D	0	.	9.9898	0.41863	0.0:0.6762:0.2533:0.0706	.	2437;2437;2437;2483;2483	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2483;2437;2437;2437;2437;2483	ENSP00000343764:E2483K;ENSP00000434586:E2437K;ENSP00000340554:E2437K;ENSP00000352154:E2437K;ENSP00000354117:E2483K	ENSP00000340554:E2437K	E	-	1	0	TTN	179346581	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.536000	0.45693	2.765000	0.95021	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179638336	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179638336	C	T	179638336	3	4	153	1	0	0	0	0	1	0	0	0	16766	835	29	1	103865	1	TTN	2	179638336	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	21872	179638336	63561037	205	26179										
TTN	7273	genome.wustl.edu	37	chr2	179641319	179641319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataatcaaggctgcagtaccCaaattcattgatcatacgga	7	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179641319C>G	ENST00000591111.1	-	28	5496	c.5272G>C	c.(5272-5274)Ggg>Cgg	p.G1758R	TTN_ENST00000359218.5_Missense_Mutation_p.G1712R|TTN_ENST00000460472.2_Missense_Mutation_p.G1712R|TTN_ENST00000589042.1_Missense_Mutation_p.G1758R|TTN_ENST00000342992.6_Missense_Mutation_p.G1758R|TTN_ENST00000360870.5_Missense_Mutation_p.G1758R|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G1712R|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12590	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGTACCCAAATTCATTG	0.473																																																	0													74	66	69					2																	179641319		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5272G>C	2.37:g.179641319C>G	ENSP00000465570:p.Gly1758Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1758R	ENST00000591111.1	37	c.5272		2	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809735	0.31961	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85084	0.5616	M	0.88310	2.945	0.46279	D	0.998961	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88273	0.2931	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1712;1712;1712;1758;1758	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1758;1712;1712;1712;1712;1758	ENSP00000343764:G1758R;ENSP00000434586:G1712R;ENSP00000340554:G1712R;ENSP00000352154:G1712R;ENSP00000354117:G1758R	ENSP00000340554:G1712R	G	-	1	0	TTN	179349564	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.688000	0.84153	2.363000	0.80096	0.561000	0.74099	GGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641319	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179641319	C	G	179641319	3	3	153	1	0	0	0	0	1	0	0	0	16766	594	21	4	106056	4	TTN	2	179641319	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2983	179641319	63558054	206	26180										
PDE1A	5136	genome.wustl.edu	37	chr2	183099171	183099171	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatgtcacctttaatgttacGatgacagctgctggatatgc	9	8	1	1	rs375942859		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:183099171G>A	ENST00000410103.1	-	5	536	c.453C>T	c.(451-453)atC>atT	p.I151I	PDE1A_ENST00000536095.1_Silent_p.I47I|PDE1A_ENST00000358139.2_Silent_p.I151I|PDE1A_ENST00000346717.4_Silent_p.I117I|PDE1A_ENST00000331935.6_Silent_p.I151I|PDE1A_ENST00000435564.1_Silent_p.I151I|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Silent_p.I151I|PDE1A_ENST00000351439.5_Silent_p.I135I|PDE1A_ENST00000409365.1_Silent_p.I135I	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	151					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTAATGTTACGATGACAGCTG	0.269																																																	0													78	77	77					2																	183099171		2203	4295	6498	SO:0001819	synonymous_variant	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.453C>T	2.37:g.183099171G>A			D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.I151	ENST00000410103.1	37	c.453	CCDS33344.1	2																																																																																			PDE1A	-	NULL		0.269	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	G			183099171	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	silent	SNP	0.510	A	A	183099171	G	A	183099171	2	1	153	1	0	0	0	0	0	0	0	1	11657	1048	37	1		1	PDE1A	2	183099171	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3457852	183099171	60100202	207	26181										
COL5A2	1290	genome.wustl.edu	37	chr2	189904060	189904060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcgggctgggtgctttttcGagccatcggggctgcgcatg	17	10	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:189904060G>A	ENST00000374866.3	-	51	4137	c.3863C>T	c.(3862-3864)tCg>tTg	p.S1288L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1288	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTGCTTTTTCGAGCCATCGGG	0.532																																																	0													119	113	115					2																	189904060		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3863C>T	2.37:g.189904060G>A	ENSP00000364000:p.Ser1288Leu		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.S1288L	ENST00000374866.3	37	c.3863	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774007	0.69992	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.75154	-0.91	5.18	5.18	0.71444	Fibrillar collagen, C-terminal (3);	0.000000	0.43416	D	0.000576	D	0.89577	0.6755	M	0.92317	3.295	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	D	0.91466	0.5193	10	0.54805	T	0.06	.	18.6647	0.91485	0.0:0.0:1.0:0.0	.	928;1288	Q5PR22;P05997	.;CO5A2_HUMAN	L	1288;928	ENSP00000364000:S1288L	ENSP00000364000:S1288L	S	-	2	0	COL5A2	189612305	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	7.310000	0.78947	2.393000	0.81446	0.655000	0.94253	TCG	COL5A2	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.532	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189904060	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A	A	189904060	G	A	189904060	3	1	153	1	0	0	0	0	1	0	0	0	3702	1059	37	1	652	1	COL5A2	2	189904060	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6804889	189904060	53295313	208	26182										
DNAH7	56171	genome.wustl.edu	37	chr2	196642531	196642531	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggcatacttacatcaccaGaaggaggaacaaaatagatg	10	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:196642531G>C	ENST00000312428.6	-	59	11157	c.11057C>G	c.(11056-11058)tCt>tGt	p.S3686C	DNAH7_ENST00000409063.1_Missense_Mutation_p.S169C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3686					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACATCACCAGAAGGAGGAAC	0.368																																																	0													113	105	108					2																	196642531		1931	4132	6063	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11057C>G	2.37:g.196642531G>C	ENSP00000311273:p.Ser3686Cys		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.S3686C	ENST00000312428.6	37	c.11057	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778766	0.31502	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09163	3.01;3.01	4.98	3.1	0.35709	Dynein heavy chain (1);	0.738788	0.12468	N	0.466236	T	0.11153	0.0272	N	0.21097	0.63	0.80722	D	1	B	0.29909	0.261	P	0.45660	0.489	T	0.34825	-0.9813	10	0.37606	T	0.19	.	2.8061	0.05428	0.0937:0.1434:0.4609:0.302	.	3686	Q8WXX0	DYH7_HUMAN	C	3686;169	ENSP00000311273:S3686C;ENSP00000386912:S169C	ENSP00000311273:S3686C	S	-	2	0	DNAH7	196350776	0.995000	0.38212	0.999000	0.59377	0.951000	0.60555	3.664000	0.54525	1.324000	0.45282	0.655000	0.94253	TCT	DNAH7	-	pfam_Dynein_heavy_dom		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196642531	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.996	C	C	196642531	G	C	196642531	3	2	153	1	0	0	0	0	1	0	0	0	4616	942	33	1	1045	1	DNAH7	2	196642531	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6738471	196642531	46556842	209	26183										
DNAH7	56171	genome.wustl.edu	37	chr2	196753533	196753533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaacttacagtggcagggGaagcaacttctaaatccatt	10	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:196753533G>A	ENST00000312428.6	-	32	5319	c.5219C>T	c.(5218-5220)tCc>tTc	p.S1740F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1740	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTGGCAGGGGAAGCAACTTC	0.328																																																	0													70	71	71					2																	196753533		1859	4100	5959	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5219C>T	2.37:g.196753533G>A	ENSP00000311273:p.Ser1740Phe		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.S1740F	ENST00000312428.6	37	c.5219	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038251	0.54896	.	.	ENSG00000118997	ENST00000312428	D	0.96427	-4.01	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	.	19.1053	0.93293	0.0:0.0:1.0:0.0	.	1740	Q8WXX0	DYH7_HUMAN	F	1740	ENSP00000311273:S1740F	ENSP00000311273:S1740F	S	-	2	0	DNAH7	196461778	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.825000	0.86693	2.690000	0.91761	0.655000	0.94253	TCC	DNAH7	-	NULL		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196753533	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196753533	G	A	196753533	3	1	153	1	0	0	0	0	1	0	0	0	4616	1174	41	1	6991	1	DNAH7	2	196753533	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	111002	196753533	46445840	210	26184										
PGAP1	80055	genome.wustl.edu	37	chr2	197750186	197750186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcagctttccatgataaatCaaccccttgcaggctttgaa	6	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:197750186C>T	ENST00000354764.4	-	12	1348	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	PGAP1_ENST00000409188.1_3'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.D412N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	412					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CATGATAAATCAACCCCTTGC	0.279																																																	0													56	64	61					2																	197750186		2195	4290	6485	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1234G>A	2.37:g.197750186C>T	ENSP00000346809:p.Asp412Asn		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.D412N	ENST00000354764.4	37	c.1234	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028619	0.75390	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.81914	0.995;0.984	T	0.66544	-0.5897	9	0.66056	D	0.02	-18.9763	14.225	0.65853	0.0:1.0:0.0:0.0	.	412;412	Q75T13-3;Q75T13	.;PGAP1_HUMAN	N	192;412;412	.	ENSP00000346809:D412N	D	-	1	0	PGAP1	197458431	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.205000	0.58466	2.732000	0.93576	0.591000	0.81541	GAT	PGAP1	-	NULL		0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	C	NM_024989		197750186	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197750186	C	T	197750186	3	4	153	1	0	0	0	0	1	0	0	0	11801	826	29	1	1598	1	PGAP1	2	197750186	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	996653	197750186	45449187	211	26185										
SGOL2	151246	genome.wustl.edu	37	chr2	201438500	201438500	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atctttgtctgagatacattCacctaacatacaagattctt	4	9	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:201438500C>T	ENST00000357799.4	+	7	3529	c.3431C>T	c.(3430-3432)tCa>tTa	p.S1144L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1144					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAGATACATTCACCTAACATA	0.338																																																	0													113	104	107					2																	201438500		1843	4088	5931	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3431C>T	2.37:g.201438500C>T	ENSP00000350447:p.Ser1144Leu		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.S1144L	ENST00000357799.4	37	c.3431	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274696	0.59649	.	.	ENSG00000163535	ENST00000357799	T	0.14022	2.54	5.52	4.61	0.57282	.	0.560673	0.15116	N	0.279691	T	0.15349	0.0370	M	0.64997	1.995	0.80722	D	1	B;B;B	0.28178	0.202;0.202;0.202	B;B;B	0.22386	0.039;0.039;0.039	T	0.03130	-1.1069	10	0.87932	D	0	-0.7433	8.2995	0.32006	0.0:0.8869:0.0:0.1131	.	1144;1144;1144	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	L	1144	ENSP00000350447:S1144L	ENSP00000350447:S1144L	S	+	2	0	SGOL2	201146745	0.474000	0.25886	0.583000	0.28640	0.028000	0.11728	1.999000	0.40806	1.475000	0.48197	0.650000	0.86243	TCA	SGOL2	-	NULL		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	C	NM_152524		201438500	1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.882	T	T	201438500	C	T	201438500	3	4	153	1	0	0	0	0	1	0	0	0	14247	838	29	1	3453	1	SGOL2	2	201438500	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3688314	201438500	41760873	212	26186										
TRAK2	66008	genome.wustl.edu	37	chr2	202264129	202264129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcttgtcccaattgctcctCcagggattcgttctgctcag	10	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:202264129C>G	ENST00000332624.3	-	5	879	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	TRAK2_ENST00000430254.1_Missense_Mutation_p.E151Q	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	151	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATTGCTCCTCCAGGGATTCG	0.403																																																	0													101	95	97					2																	202264129		2203	4299	6502	SO:0001583	missense	66008			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.451G>C	2.37:g.202264129C>G	ENSP00000328875:p.Glu151Gln		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E151Q	ENST00000332624.3	37	c.451	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.096755	0.94197	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.25912	1.77;1.77	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60475	-0.7256	10	0.72032	D	0.01	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	151;151	E7EV21;O60296	.;TRAK2_HUMAN	Q	151;57;151	ENSP00000328875:E151Q;ENSP00000409333:E151Q	ENSP00000328875:E151Q	E	-	1	0	TRAK2	201972374	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.043000	0.76572	2.826000	0.97356	0.655000	0.94253	GAG	TRAK2	-	pfam_HAP1_N		0.403	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	C	NM_015049		202264129	-1	no_errors	ENST00000332624	ensembl	human	known	70_37	missense	SNP	1.000	G	G	202264129	C	G	202264129	3	3	153	1	0	0	0	0	1	0	0	0	16481	864	30	1	2341	1	TRAK2	2	202264129	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	825629	202264129	40935244	213	26187										
ADAM23	8745	genome.wustl.edu	37	chr2	207424741	207424741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtagagacctggactgagaaGgatcagattgacatcaccac	11	9	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507																																					Melanoma(194;1127 2130 19620 24042 27855)												0													127	107	114					2																	207424741		2203	4300	6503	SO:0001819	synonymous_variant	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1068G>A	2.37:g.207424741G>A			A2RU59	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K356	ENST00000264377.3	37	c.1068	CCDS2369.1	2																																																																																			ADAM23	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.507	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	G	NM_003812		207424741	1	no_errors	ENST00000264377	ensembl	human	known	70_37	silent	SNP	1.000	A	A	207424741	G	A	207424741	2	1	153	1	0	0	0	0	0	0	0	1	245	991	35	4		4	ADAM23	2	207424741	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5160612	207424741	35774632	214	26188										
ABCA12	26154	genome.wustl.edu	37	chr2	215868960	215868960	+	Frame_Shift_Del	DEL	C	C	-													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atctatctgtttcaatagttCaacagcatcgagtcccacgg							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:215868960delC	ENST00000272895.7	-	20	2875	c.2656delG	c.(2656-2658)gaafs	p.E886fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.E568fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	886					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCAATAGTTCAACAGCATCG	0.333																																					Ovarian(66;664 1488 5121 34295)												0													64	66	65					2																	215868960		2203	4300	6503	SO:0001589	frameshift_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2656delG	2.37:g.215868960delC	ENSP00000272895:p.Glu886fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E886fs	ENST00000272895.7	37	c.2656	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.333	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215868960	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	215868960	C	-	215868960	7	5	153	1	0	1	0	1	0	0	0	0	30	835	29	0	5267	0	ABCA12	2	215868960	Frame_Shift_Del	DEL	C	TCGA-IR-A3LK-01A-12D-A20U-09	8444219	215868960	27330413	215	26189										
PNKD	25953	genome.wustl.edu	37	chr2	219209676	219209676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctcctggaagagctccgccGgctgaaggatatgcacaaga	13	11	0	3	rs148141539		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:219209676G>A	ENST00000273077.4	+	10	1181	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	PNKD_ENST00000258362.3_Missense_Mutation_p.R353Q|PNKD_ENST00000436005.2_Missense_Mutation_p.R317Q|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	377	Substrate binding. {ECO:0000250}.			R -> L (in Ref. 7; CAB70870). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCTCCGCCGGCTGAAGGAT	0.677																																																	0								G	GLN/ARG,GLN/ARG	1,4401		0,1,2200	26	33	31		1130,1058	2.8	1	2	dbSNP_134	31	0,8596		0,0,4298	no	missense,missense	PNKD	NM_015488.4,NM_022572.4	43,43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	377/386,353/362	219209676	1,12997	2201	4298	6499	SO:0001583	missense	25953				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.1130G>A	2.37:g.219209676G>A	ENSP00000273077:p.Arg377Gln		A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase	p.R377Q	ENST00000273077.4	37	c.1130	CCDS2411.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393169	0.42410	2.27E-4	0.0	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.96587	-4.06;-3.76;-3.75	4.68	2.83	0.33086	.	0.251890	0.37178	N	0.002216	D	0.89399	0.6704	N	0.20845	0.615	0.19575	N	0.999963	B;B	0.20261	0.043;0.0	B;B	0.10450	0.005;0.0	T	0.79019	-0.1974	10	0.35671	T	0.21	-8.5362	3.4977	0.07661	0.2963:0.0:0.5292:0.1745	.	353;377	Q8N490-3;Q8N490	.;PNKD_HUMAN	Q	377;353;317	ENSP00000273077:R377Q;ENSP00000258362:R353Q;ENSP00000414400:R317Q	ENSP00000258362:R353Q	R	+	2	0	PNKD	218917920	0.052000	0.20516	0.992000	0.48379	0.945000	0.59286	1.104000	0.31074	0.363000	0.24346	0.313000	0.20887	CGG	PNKD	-	tigrfam_Hydroxyacylglutathione_Hdrlase		0.677	PNKD-001	KNOWN	basic|CCDS	protein_coding	PNKD	HGNC	protein_coding	OTTHUMT00000256775.2	G			219209676	1	no_errors	ENST00000273077	ensembl	human	known	70_37	missense	SNP	0.198	A	A	219209676	G	A	219209676	3	1	153	1	0	0	0	0	1	0	0	0	12170	1116	39	2	1533	2	PNKD	2	219209676	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3340716	219209676	23989697	216	26190										
RQCD1	9125	genome.wustl.edu	37	chr2	219445325	219445325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caagtggatagagaaaagatCtatcagtggatcaatgagct	11	5	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:219445325C>G	ENST00000273064.6	+	2	441	c.66C>G	c.(64-66)atC>atG	p.I22M	RQCD1_ENST00000542068.1_Missense_Mutation_p.I22M|RQCD1_ENST00000509807.2_Missense_Mutation_p.I22M|RQCD1_ENST00000295701.5_Missense_Mutation_p.I22M	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	22					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAAAAGATCTATCAGTGGA	0.438																																																	0													126	112	117					2																	219445325		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.66C>G	2.37:g.219445325C>G	ENSP00000273064:p.Ile22Met		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	p.I22M	ENST00000273064.6	37	c.66	CCDS33379.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039790	0.35989	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.51325	0.71;1.33;0.71;0.75	5.75	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.39147	1.195	0.80722	D	1	B;B;B	0.29552	0.248;0.029;0.029	B;B;B	0.25140	0.058;0.03;0.03	T	0.11421	-1.0588	10	0.40728	T	0.16	-2.4346	9.2454	0.37523	0.2625:0.6702:0.0:0.0674	.	22;22;22	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	M	22	ENSP00000273064:I22M;ENSP00000441357:I22M;ENSP00000443687:I22M;ENSP00000295701:I22M	ENSP00000273064:I22M	I	+	3	3	RQCD1	219153569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.293000	0.51779	0.737000	0.32582	0.655000	0.94253	ATC	RQCD1	-	NULL		0.438	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RQCD1	HGNC	protein_coding	OTTHUMT00000336920.1	C	NM_005444		219445325	1	no_errors	ENST00000509807	ensembl	human	known	70_37	missense	SNP	1.000	G	G	219445325	C	G	219445325	3	3	153	1	0	0	0	0	1	0	0	0	13700	903	32	1	72	1	RQCD1	2	219445325	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	235649	219445325	23754048	217	26191										
DOCK10	55619	genome.wustl.edu	37	chr2	225635056	225635056	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagggcctgcccacatgcatCtgcaaattgcctttagcgac	9	13	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:225635056C>A	ENST00000258390.7	-	55	6383	c.6316G>T	c.(6316-6318)Gat>Tat	p.D2106Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.D2100Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2106	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCACATGCATCTGCAAATTGC	0.507																																																	0													80	71	74					2																	225635056		2005	4190	6195	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6316G>T	2.37:g.225635056C>A	ENSP00000258390:p.Asp2106Tyr		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D2106Y	ENST00000258390.7	37	c.6316	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253642	0.59212	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.18657	2.2;2.2	5.27	5.27	0.74061	.	0.188841	0.48767	D	0.000177	T	0.35068	0.0919	L	0.48642	1.525	0.58432	D	0.999996	B;P;P	0.48350	0.021;0.909;0.779	B;P;P	0.53266	0.129;0.722;0.516	T	0.05989	-1.0852	10	0.87932	D	0	.	18.8883	0.92388	0.0:1.0:0.0:0.0	.	2106;2100;768	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	Y	2100;2106;613	ENSP00000386694:D2100Y;ENSP00000258390:D2106Y	ENSP00000258390:D2106Y	D	-	1	0	DOCK10	225343300	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	5.778000	0.68940	2.472000	0.83506	0.563000	0.77884	GAT	DOCK10	-	pfam_DOCK_C,superfamily_ARM-type_fold		0.507	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225635056	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	A	A	225635056	C	A	225635056	3	1	153	1	0	0	0	0	1	0	0	0	4695	913	32	3	252	3	DOCK10	2	225635056	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6189731	225635056	17564317	218	26192										
NGEF	25791	genome.wustl.edu	37	chr2	233748711	233748711	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctggaatctgccggcagatCaccagcaggtcgttgaacag	12	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:233748711C>T	ENST00000264051.3	-	11	1859	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	NGEF_ENST00000539537.1_Silent_p.V250V|NGEF_ENST00000373552.4_Silent_p.V435V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	527	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCCGGCAGATCACCAGCAGGT	0.602																																																	0													81	77	78					2																	233748711		2203	4300	6503	SO:0001819	synonymous_variant	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1581G>A	2.37:g.233748711C>T			B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V527	ENST00000264051.3	37	c.1581	CCDS2500.1	2																																																																																			NGEF	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.602	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	C	XM_044799		233748711	-1	no_errors	ENST00000264051	ensembl	human	known	70_37	silent	SNP	0.867	T	T	233748711	C	T	233748711	2	4	153	1	0	0	0	0	0	0	0	1	10418	813	29	1		1	NGEF	2	233748711	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8113655	233748711	9450662	219	26193										
UGT1A1	54658	genome.wustl.edu	37	chr2	234669586	234669586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaacatgctcattgccttttCacagaactttctgtgcgacg	8	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:234669586C>T	ENST00000608383.1	+	1	653	c.653C>T	c.(652-654)tCa>tTa	p.S218L	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S218L|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S218L|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	218					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	ATTGCCTTTTCACAGAACTTT	0.522																																																	0													178	172	174					2																	234669586		2203	4300	6503	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.653C>T	2.37:g.234669586C>T	ENSP00000476741:p.Ser218Leu		A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S218L	ENST00000608383.1	37	c.653	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.976667	0.02215	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.58358	0.34;0.34	5.66	0.208	0.15221	.	.	.	.	.	T	0.18467	0.0443	N	0.00746	-1.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.001	T	0.29336	-1.0015	9	0.10377	T	0.69	.	8.7733	0.34747	0.0:0.4302:0.0:0.5698	.	218;218	A6NJC3;P22309	.;UD11_HUMAN	L	218	ENSP00000304845:S218L;ENSP00000353593:S218L	ENSP00000304845:S218L	S	+	2	0	UGT1A1	234334325	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.465000	0.06680	-0.027000	0.13873	0.655000	0.94253	TCA	UGT1A1	-	pfam_UDP_glucos_trans		0.522	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		C			234669586	1	no_errors	ENST00000305208	ensembl	human	known	70_37	missense	SNP	0.000	T	T	234669586	C	T	234669586	3	4	153	1	0	0	0	0	1	0	0	0	16975	838	29	1	655	1	UGT1A1	2	234669586	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	920875	234669586	8529787	220	26194										
CNTN4	152330	genome.wustl.edu	37	chr3	3095557	3095557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaataaaacatcggtggagCtttctttgcctttcgatgaa	8	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:3095557C>T	ENST00000397461.1	+	23	3262	c.2878C>T	c.(2878-2880)Ctt>Ttt	p.L960F	CNTN4_ENST00000397459.2_Missense_Mutation_p.L632F|CNTN4_ENST00000418658.1_Missense_Mutation_p.L960F|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.L632F|CNTN4_ENST00000427331.1_Missense_Mutation_p.L960F|CNTN4_ENST00000358480.3_Missense_Mutation_p.L741F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	960	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATCGGTGGAGCTTTCTTTGCC	0.418																																																	0													102	111	108					3																	3095557		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2878C>T	3.37:g.3095557C>T	ENSP00000380602:p.Leu960Phe		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L960F	ENST00000397461.1	37	c.2878	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269465	0.80469	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.14	5.14	0.70334	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74417	-0.3672	10	0.39692	T	0.17	.	18.6165	0.91304	0.0:1.0:0.0:0.0	.	959;960	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	F	960;960;960;741;632;632	ENSP00000396010:L960F;ENSP00000380602:L960F;ENSP00000413642:L960F;ENSP00000351267:L741F;ENSP00000380600:L632F;ENSP00000392077:L632F	ENSP00000351267:L741F	L	+	1	0	CNTN4	3070557	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	4.494000	0.60347	2.377000	0.81083	0.655000	0.94253	CTT	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	C			3095557	1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3095557	C	T	3095557	3	4	153	1	0	0	0	0	1	0	0	0	3648	797	28	4	2960	4	CNTN4	3	3095557	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		3095557	194926873	221	26195										
FANCD2	2177	genome.wustl.edu	37	chr3	10074515	10074515	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaaaatttttctattttcaGaaaccaggaagcaaccactt	5	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:10074515G>C	ENST00000419585.1	+	3	225		c.e3-1		FANCD2_ENST00000383807.1_Splice_Site|FANCD2_ENST00000287647.3_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site|FANCD2_ENST00000431693.1_Splice_Site			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCTATTTTCAGAAACCAGGAA	0.303			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													63	67	66					3																	10074515		2197	4288	6485	SO:0001630	splice_region_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.65-1G>C	3.37:g.10074515G>C			Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	SNP	-	e2-1	ENST00000419585.1	37	c.65-1	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	2.732	-0.264116	0.05754	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	.	.	.	6.01	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6586	0.23000	0.2206:0.1292:0.6502:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FANCD2	10049515	1.000000	0.71417	0.028000	0.17463	0.034000	0.12701	3.423000	0.52756	0.431000	0.26258	0.643000	0.83706	.	FANCD2	-	-		0.303	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	G		Intron	10074515	1	no_errors	ENST00000287647	ensembl	human	known	70_37	splice_site	SNP	0.361	C	C	10074515	G	C	10074515	5	2	153	1	0	0	0	0	0	0	1	0	5683	956	33	1	70	1	FANCD2	3	10074515	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6978958	10074515	187947915	222	26196										
ATP2B2	491	genome.wustl.edu	37	chr3	10384561	10384561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctcagcagcagggtctccGtgggcggctcagtggccagt	15	13	3	0	rs368058047		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:10384561G>A	ENST00000352432.4	-	18	2861	c.2792C>T	c.(2791-2793)aCg>aTg	p.T931M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T886M|ATP2B2_ENST00000397077.1_Missense_Mutation_p.T886M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T931M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T917M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	931					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.T886M(1)|p.T931M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGGTCTCCGTGGGCGGCTC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)												2	Substitution - Missense(2)	endometrium(2)						G	MET/THR,MET/THR	0,4406		0,0,2203	105	90	95		2792,2657	3.5	0.9	3		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP2B2	NM_001001331.2,NM_001683.3	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	931/1244,886/1199	10384561	1,13005	2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2792C>T	3.37:g.10384561G>A	ENSP00000324172:p.Thr931Met		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.T931M	ENST00000352432.4	37	c.2792	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	g	18.15	3.560179	0.65538	0.0	1.16E-4	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	3.55	3.55	0.40652	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.051756	0.85682	D	0.000000	D	0.98710	0.9567	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.973;0.991	D	0.99513	1.0956	10	0.87932	D	0	-31.295	16.028	0.80555	0.0:0.0:1.0:0.0	.	866;898;931	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	931;886;886;931;917;866;120;787;931	ENSP00000324172:T931M;ENSP00000373311:T886M;ENSP00000380267:T886M;ENSP00000353414:T931M;ENSP00000344677:T917M;ENSP00000414854:T787M	ENSP00000342954:T931M	T	-	2	0	ATP2B2	10359561	1.000000	0.71417	0.940000	0.37924	0.712000	0.41017	5.350000	0.66016	1.930000	0.55929	0.298000	0.19748	ACG	ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10384561	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	0.997	A	A	10384561	G	A	10384561	3	1	153	1	0	0	0	0	1	0	0	0	1141	1145	40	2	959	2	ATP2B2	3	10384561	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	310046	10384561	187637869	223	26197										
HDAC11	79885	genome.wustl.edu	37	chr3	13545614	13545614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggccatcaggcggaaggtgGagctggagtggggcacagag	20	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:13545614G>A	ENST00000295757.3	+	9	853	c.670G>A	c.(670-672)Gag>Aag	p.E224K	HDAC11_ENST00000433119.1_Nonsense_Mutation_p.W181*|HDAC11_ENST00000404040.1_Missense_Mutation_p.E124K|HDAC11_ENST00000446613.2_Missense_Mutation_p.E32K|HDAC11_ENST00000405025.1_Nonsense_Mutation_p.W63*|HDAC11_ENST00000402259.1_Missense_Mutation_p.E58K|HDAC11_ENST00000522202.1_Missense_Mutation_p.E173K|HDAC11_ENST00000404548.1_Nonsense_Mutation_p.W91*|HDAC11_ENST00000402271.1_Missense_Mutation_p.E145K|HDAC11_ENST00000437379.2_Missense_Mutation_p.E196K	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	224	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGGAAGGTGGAGCTGGAGTG	0.542																																																	0													81	76	77					3																	13545614		2203	4300	6503	SO:0001583	missense	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.670G>A	3.37:g.13545614G>A	ENSP00000295757:p.Glu224Lys		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom	p.W181*	ENST00000295757.3	37	c.543	CCDS2615.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.376258|4.376258	0.82682|0.82682	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379|ENST00000433119;ENST00000404548;ENST00000405025	T;T;T;T;T;T;T;T|.	0.78246|.	-0.48;-0.48;-0.48;-0.48;-0.48;-1.16;-0.48;-0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Histone deacetylase domain (2);|.	0.122386|.	0.64402|.	D|.	0.000013|.	T|.	0.80949|.	0.4722|.	M|M	0.88842|0.88842	2.985|2.985	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.32324|.	0.364;0.364|.	B;B|.	0.37943|.	0.261;0.261|.	D|.	0.84399|.	0.0559|.	10|.	0.87932|0.87932	D|D	0|0	-1.7016|-1.7016	15.2262|15.2262	0.73354|0.73354	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;224|.	B4DDK1;Q96DB2|.	.;HDA11_HUMAN|.	K|X	224;58;145;32;124;196;173;196|181;91;63	ENSP00000295757:E224K;ENSP00000384706:E58K;ENSP00000384123:E145K;ENSP00000401487:E32K;ENSP00000385475:E124K;ENSP00000385252:E196K;ENSP00000429794:E173K;ENSP00000395188:E196K|.	ENSP00000295757:E224K|ENSP00000385528:W91X	E|W	+|+	1|3	0|0	HDAC11|HDAC11	13520614|13520614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	8.717000|8.717000	0.91425|0.91425	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	GAG|TGG	HDAC11	-	NULL		0.542	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5	G	NM_024827		13545614	1	no_errors	ENST00000433119	ensembl	human	putative	70_37	nonsense	SNP	1.000	A	A	13545614	G	A	13545614	3	1	153	1	0	0	0	0	1	0	0	0	7026	1175	41	1	704	1	HDAC11	3	13545614	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3161053	13545614	184476816	224	26198										
C3orf20	84077	genome.wustl.edu	37	chr3	14813664	14813664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaagcagctcctcattggcCctggaagactatgtggagaa	13	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:14813664C>T	ENST00000253697.3	+	16	3038	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	C3orf20_ENST00000435614.1_Silent_p.A740A|C3orf20_ENST00000412910.1_Silent_p.A740A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	862						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCTCATTGGCCCTGGAAGACT	0.547																																																	0													122	112	115					3																	14813664		2203	4300	6503	SO:0001819	synonymous_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2586C>T	3.37:g.14813664C>T			Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.A862	ENST00000253697.3	37	c.2586	CCDS33706.1	3																																																																																			C3orf20	-	NULL		0.547	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	C	NM_032137		14813664	1	no_errors	ENST00000253697	ensembl	human	known	70_37	silent	SNP	0.001	T	T	14813664	C	T	14813664	2	4	153	1	0	0	0	0	0	0	0	1	2218	610	22	4		4	C3orf20	3	14813664	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1268050	14813664	183208766	225	26199										
SH3BP5	9467	genome.wustl.edu	37	chr3	15311349	15311349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcacctctgtggccctctgGaagtcctgcgtggctttctg	12	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:15311349G>T	ENST00000383791.3	-	4	586	c.366C>A	c.(364-366)ttC>ttA	p.F122L	SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	122					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGGCCCTCTGGAAGTCCTGCG	0.607																																																	0													108	111	110					3																	15311349		2203	4300	6503	SO:0001583	missense	9467			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.366C>A	3.37:g.15311349G>T	ENSP00000373301:p.Phe122Leu		B3KQW6|Q5JWV9	Missense_Mutation	SNP	pfam_SH3-bd_5	p.F122L	ENST00000383791.3	37	c.366	CCDS2625.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.560977	0.96527	.	.	ENSG00000131370	ENST00000383791	T	0.77098	-1.07	5.41	4.53	0.55603	.	0.047752	0.85682	D	0.000000	D	0.85792	0.5779	M	0.83953	2.67	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	D	0.87391	0.2363	10	0.87932	D	0	-10.6974	11.1459	0.48430	0.1398:0.0:0.8602:0.0	.	122	O60239	3BP5_HUMAN	L	122	ENSP00000373301:F122L	ENSP00000373301:F122L	F	-	3	2	SH3BP5	15286353	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.437000	0.52863	2.550000	0.86006	0.555000	0.69702	TTC	SH3BP5	-	pfam_SH3-bd_5		0.607	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	HGNC	protein_coding	OTTHUMT00000340740.2	G	NM_004844		15311349	-1	no_errors	ENST00000383791	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15311349	G	T	15311349	3	4	153	1	0	0	0	0	1	0	0	0	14277	1165	41	3	1025	3	SH3BP5	3	15311349	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	497685	15311349	182711081	226	26200										
ANKRD28	23243	genome.wustl.edu	37	chr3	15727769	15727769	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccactgcattctgtggttCtgcatttcctattaatagcc	6	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:15727769C>G	ENST00000399451.2	-	19	2288	c.1921G>C	c.(1921-1923)Gaa>Caa	p.E641Q	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E674Q|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	641						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTCTGTGGTTCTGCATTTCCT	0.328																																																	0													133	110	117					3																	15727769		1877	4120	5997	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1921G>C	3.37:g.15727769C>G	ENSP00000382379:p.Glu641Gln		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E674Q	ENST00000399451.2	37	c.2020	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739454	0.69304	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15603	2.42;2.41;2.42	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.048356	0.85682	D	0.000000	T	0.21186	0.0510	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.21753	0.06;0.028;0.014	B;B;B	0.22601	0.024;0.024;0.04	T	0.01684	-1.1296	10	0.45353	T	0.12	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	674;671;641	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Q	641;674;641	ENSP00000382379:E641Q;ENSP00000373287:E674Q;ENSP00000397341:E641Q	ENSP00000373287:E674Q	E	-	1	0	ANKRD28	15702773	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.718000	0.92993	0.655000	0.94253	GAA	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	C	NM_015199		15727769	-1	no_errors	ENST00000383777	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15727769	C	G	15727769	3	3	153	1	0	0	0	0	1	0	0	0	656	922	32	1	1280	1	ANKRD28	3	15727769	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	416420	15727769	182294661	227	26201										
NR1D2	9975	genome.wustl.edu	37	chr3	24001171	24001171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgttcttagggtttctttCggagaagtattcaacaaaac	8	6	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:24001171C>T	ENST00000312521.4	+	4	701	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	128	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R128G(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGGTTTCTTTCGGAGAAGTAT	0.353																																																	1	Substitution - Missense(1)	lung(1)											136	134	135					3																	24001171		2203	4300	6503	SO:0001583	missense	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.382C>T	3.37:g.24001171C>T	ENSP00000310006:p.Arg128Trp		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R128W	ENST00000312521.4	37	c.382	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961222	0.74016	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97941	-4.62	5.85	4.91	0.64330	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97987	1.0352	10	0.87932	D	0	.	13.6302	0.62191	0.2314:0.7686:0.0:0.0	.	128	Q14995	NR1D2_HUMAN	W	128	ENSP00000310006:R128W	ENSP00000310006:R128W	R	+	1	2	NR1D2	23976175	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.680000	0.37607	2.769000	0.95229	0.650000	0.86243	CGG	NR1D2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.353	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	C			24001171	1	no_errors	ENST00000312521	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24001171	C	T	24001171	3	4	153	1	0	0	0	0	1	0	0	0	10640	875	31	1	396	1	NR1D2	3	24001171	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8273402	24001171	174021259	228	26202										
RARB	5915	genome.wustl.edu	37	chr3	25636104	25636104	+	Frame_Shift_Del	DEL	G	G	-													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatcagaaaaagacgacccaGcaagcctcacatgtttccaa							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:25636104delG	ENST00000404969.1	+	7	1106	c.1106delG	c.(1105-1107)agcfs	p.S369fs	RARB_ENST00000330688.4_Frame_Shift_Del_p.S362fs|RARB_ENST00000437042.2_Frame_Shift_Del_p.S250fs|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Frame_Shift_Del_p.S250fs			P10826	RARB_HUMAN	retinoic acid receptor, beta	369	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGACGACCCAGCAAGCCTCAC	0.423																																																	0													108	104	105					3																	25636104		2203	4300	6503	SO:0001589	frameshift_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1106delG	3.37:g.25636104delG	ENSP00000385865:p.Ser369fs		P12891|Q00989|Q15298|Q9UN48	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S369fs	ENST00000404969.1	37	c.1106		3																																																																																			RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.423	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		G	NM_000965, NM_016152		25636104	1	no_errors	ENST00000404969	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	25636104	G	-	25636104	7	5	153	1	0	1	0	1	0	0	0	0	13083	971	34	0	1111	0	RARB	3	25636104	Frame_Shift_Del	DEL	G	TCGA-IR-A3LK-01A-12D-A20U-09	1634933	25636104	172386326	229	26203										
AZI2	64343	genome.wustl.edu	37	chr3	28380088	28380088	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccacggaacttgtttcttCttcaaatcgagctattagct	6	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:28380088C>T	ENST00000479665.1	-	3	766	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	AZI2_ENST00000334100.6_Missense_Mutation_p.E79K|AZI2_ENST00000420543.2_Missense_Mutation_p.E79K|AZI2_ENST00000457172.1_Missense_Mutation_p.E79K|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	79	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGTTTCTTCTTCAAATCGA	0.358																																																	0													104	93	97					3																	28380088		2202	4300	6502	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.235G>A	3.37:g.28380088C>T	ENSP00000419371:p.Glu79Lys		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.E79K	ENST00000479665.1	37	c.235	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319422	0.60524	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	6.03	6.03	0.97812	.	0.182899	0.56097	D	0.000021	T	0.54159	0.1841	M	0.65498	2.005	0.45261	D	0.998269	B;P;B;P;B	0.46142	0.061;0.649;0.011;0.873;0.219	B;B;B;B;B	0.36464	0.046;0.164;0.009;0.225;0.042	T	0.62473	-0.6847	9	0.72032	D	0.01	-9.6863	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	79;79;79;79;79	Q9H6S1-3;C9JB40;C9JGA2;C9JVK8;Q9H6S1	.;.;.;.;AZI2_HUMAN	K	79	.	ENSP00000335609:E79K	E	-	1	0	AZI2	28355092	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.347000	0.59373	2.861000	0.98227	0.655000	0.94253	GAA	AZI2	-	NULL		0.358	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	C	NM_203326		28380088	-1	no_errors	ENST00000479665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28380088	C	T	28380088	3	4	153	1	0	0	0	0	1	0	0	0	1242	922	32	1	1056	1	AZI2	3	28380088	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2743984	28380088	169642342	230	26204										
ITGA9	3680	genome.wustl.edu	37	chr3	37565067	37565067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgtttggtcagtccatatCgggaggcattgatatggatg	14	5	1	1	rs374117373		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:37565067C>T	ENST00000264741.5	+	12	1548	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	ITGA9_ENST00000422441.1_Missense_Mutation_p.S431L	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	431					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGTCCATATCGGGAGGCATT	0.398																																																	0								C	LEU/SER	0,4406		0,0,2203	131	121	125		1292	6	1	3		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA9	NM_002207.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	431/1036	37565067	1,13005	2203	4300	6503	SO:0001583	missense	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1292C>T	3.37:g.37565067C>T	ENSP00000264741:p.Ser431Leu		Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S431L	ENST00000264741.5	37	c.1292	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.638332	0.96693	0.0	1.16E-4	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.56444	0.46;0.46	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	T	0.83056	-0.0150	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	431;431	Q13797;E9PDS3	ITA9_HUMAN;.	L	431	ENSP00000397258:S431L;ENSP00000264741:S431L	ENSP00000264741:S431L	S	+	2	0	ITGA9	37540071	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	TCG	ITGA9	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.398	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	C	NM_002207		37565067	1	no_errors	ENST00000264741	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37565067	C	T	37565067	3	4	153	1	0	0	0	0	1	0	0	0	7903	893	31	1	1338	1	ITGA9	3	37565067	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9184979	37565067	160457363	231	26205										
SLC25A38	54977	genome.wustl.edu	37	chr3	39433016	39433016	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttcttgcgaggccatcccCcaaccgccctggagtcagtc	9	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:39433016C>G	ENST00000273158.4	+	4	738	c.361C>G	c.(361-363)Cca>Gca	p.P121A		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCCATCCCCCAACCGCCCT	0.537																																																	0													172	189	183					3																	39433016		2203	4300	6503	SO:0001583	missense	54977			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.361C>G	3.37:g.39433016C>G	ENSP00000273158:p.Pro121Ala			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P121A	ENST00000273158.4	37	c.361	CCDS2685.1	3	.	.	.	.	.	.	.	.	.	.	c	12.87	2.068561	0.36470	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.78364	-1.17;-1.15	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.097562	0.64402	D	0.000001	T	0.81475	0.4830	M	0.77712	2.385	0.58432	D	0.999999	B	0.34241	0.444	B	0.44224	0.444	T	0.77199	-0.2675	10	0.10902	T	0.67	-26.4226	16.1545	0.81646	0.0:1.0:0.0:0.0	.	121	Q96DW6	S2538_HUMAN	A	121;117	ENSP00000273158:P121A;ENSP00000394244:P117A	ENSP00000273158:P121A	P	+	1	0	SLC25A38	39408020	1.000000	0.71417	0.949000	0.38748	0.816000	0.46133	5.703000	0.68340	2.411000	0.81874	0.655000	0.94253	CCA	SLC25A38	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.537	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A38	HGNC	protein_coding	OTTHUMT00000254057.3	C	NM_017875		39433016	1	no_errors	ENST00000273158	ensembl	human	known	70_37	missense	SNP	0.994	G	G	39433016	C	G	39433016	3	3	153	1	0	0	0	0	1	0	0	0	14532	623	22	4	375	4	SLC25A38	3	39433016	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1867949	39433016	158589414	232	26206										
MYRIP	25924	genome.wustl.edu	37	chr3	40286041	40286041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgatgagacccatctggcGgatctggaggaccaggtggc	15	10	2	2	rs201745391		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:40286041G>A	ENST00000302541.6	+	13	2547	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	MYRIP_ENST00000396217.3_Silent_p.A646A|MYRIP_ENST00000444716.1_Silent_p.A735A|MYRIP_ENST00000425621.1_Silent_p.A670A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.A548A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	735	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.A735A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCATCTGGCGGATCTGGAGG	0.607																																																	2	Substitution - coding silent(2)	ovary(1)|skin(1)						G		0,4406		0,0,2203	60	56	57		2205	-11.1	0.3	3		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYRIP	NM_015460.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		735/860	40286041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2205G>A	3.37:g.40286041G>A			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.A735	ENST00000302541.6	37	c.2205	CCDS2689.1	3																																																																																			MYRIP	-	pfam_Myrip/Melanophilin		0.607	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	G	NM_015460		40286041	1	no_errors	ENST00000302541	ensembl	human	known	70_37	silent	SNP	0.587	A	A	40286041	G	A	40286041	2	1	153	1	0	0	0	0	0	0	0	1	10123	1103	39	2		2	MYRIP	3	40286041	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	853025	40286041	157736389	233	26207										
ZNF619	285267	genome.wustl.edu	37	chr3	40523818	40523818	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcttccagttccctggagctGatcttggccctattgcctat	8	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:40523818G>A	ENST00000314686.5	+	4	485				ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000447116.2_Silent_p.L92L|ZNF619_ENST00000432264.2_Intron|ZNF619_ENST00000522736.1_Intron|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000521353.1_Silent_p.L92L|ZNF619_ENST00000429348.2_Intron			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCTGGAGCTGATCTTGGCCC	0.547																																																	0													68	66	66					3																	40523818		692	1591	2283	SO:0001627	intron_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.81-261G>A	3.37:g.40523818G>A			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L92	ENST00000314686.5	37	c.276		3																																																																																			ZNF619	-	pfscan_Krueppel-associated_box		0.547	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	G	NM_173656		40523818	1	no_errors	ENST00000447116	ensembl	human	known	70_37	silent	SNP	0.000	A	A	40523818	G	A	40523818	1	1	153	0	1	0	0	0	0	0	0	0	18073	1277	45	1		1	ZNF619	3	40523818	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	237777	40523818	157498612	234	26208										
NKTR	4820	genome.wustl.edu	37	chr3	42678943	42678943	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaataaaccagttaaaacaGaacctttaagagcaaccatg	5	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:42678943G>A	ENST00000232978.8	+	13	1935	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	583					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGTTAAAACAGAACCTTTAAG	0.403																																																	0													100	108	105					3																	42678943		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1747G>A	3.37:g.42678943G>A	ENSP00000232978:p.Glu583Lys			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E583K	ENST00000232978.8	37	c.1747	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499057	0.44455	.	.	ENSG00000114857	ENST00000232978	T	0.13196	2.61	5.65	5.65	0.86999	.	0.246452	0.41194	D	0.000931	T	0.18257	0.0438	L	0.29908	0.895	0.80722	D	1	P;P	0.52316	0.952;0.842	P;B	0.48488	0.579;0.253	T	0.00489	-1.1709	10	0.41790	T	0.15	-25.2417	19.6982	0.96039	0.0:0.0:1.0:0.0	.	283;583	Q6M1B8;P30414	.;NKTR_HUMAN	K	583	ENSP00000232978:E583K	ENSP00000232978:E583K	E	+	1	0	NKTR	42653947	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.721000	0.61951	2.664000	0.90586	0.491000	0.48974	GAA	NKTR	-	NULL		0.403	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42678943	1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	0.997	A	A	42678943	G	A	42678943	3	1	153	1	0	0	0	0	1	0	0	0	10472	943	33	1	1793	1	NKTR	3	42678943	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2155125	42678943	155343487	235	26209										
C3orf39	84892	genome.wustl.edu	37	chr3	43122824	43122824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcggctgagggccagctcctCctccagtgtggctgcatgct	13	14	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:43122824C>T	ENST00000344697.2	-	2	445	c.100G>A	c.(100-102)Gag>Aag	p.E34K	POMGNT2_ENST00000441964.1_Missense_Mutation_p.E34K	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	34					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GCCAGCTCCTCCTCCAGTGTG	0.647																																																	0													39	31	34					3																	43122824		2203	4300	6503	SO:0001583	missense	84892			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.100G>A	3.37:g.43122824C>T	ENSP00000344125:p.Glu34Lys		B3KWC3|Q96SY3	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.E34K	ENST00000344697.2	37	c.100	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226654	0.79576	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.80393	-1.37;-1.37	5.75	5.75	0.90469	.	0.050059	0.85682	D	0.000000	T	0.77857	0.4193	M	0.65975	2.015	0.80722	D	1	P	0.40000	0.698	B	0.28553	0.091	T	0.81488	-0.0910	10	0.72032	D	0.01	-21.3947	18.9302	0.92561	0.0:1.0:0.0:0.0	.	34	Q8NAT1	AGO61_HUMAN	K	34	ENSP00000408992:E34K;ENSP00000344125:E34K	ENSP00000344125:E34K	E	-	1	0	C3orf39	43097828	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	7.813000	0.86123	2.714000	0.92807	0.561000	0.74099	GAG	GTDC2	-	NULL		0.647	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC2	HGNC	protein_coding	OTTHUMT00000256643.1	C	NM_032806		43122824	-1	no_errors	ENST00000344697	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43122824	C	T	43122824	3	4	153	1	0	0	0	0	1	0	0	0	2234	864	30	1	1646	1	C3orf39	3	43122824	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	443881	43122824	154899606	236	26210										
KIF15	56992	genome.wustl.edu	37	chr3	44893412	44893412	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aactgagatcaaagctggaaGaaatgtatgaagaaagagag	12	3	1	5	rs373955634		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:44893412G>A	ENST00000326047.4	+	33	4089	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	KIF15_ENST00000425755.1_Missense_Mutation_p.E949K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1314					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAAGCTGGAAGAAATGTATGA	0.383																																																	0													131	122	125					3																	44893412		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3940G>A	3.37:g.44893412G>A	ENSP00000324020:p.Glu1314Lys		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E1314K	ENST00000326047.4	37	c.3940	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.511701	0.96402	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.27720	1.65;1.65	5.68	5.68	0.88126	.	0.142112	0.32231	N	0.006385	T	0.32675	0.0837	L	0.60455	1.87	0.45676	D	0.998595	P	0.40144	0.704	B	0.33339	0.162	T	0.13019	-1.0525	10	0.46703	T	0.11	.	19.8668	0.96806	0.0:0.0:1.0:0.0	.	1314	Q9NS87	KIF15_HUMAN	K	1314;949	ENSP00000324020:E1314K;ENSP00000389982:E949K	ENSP00000324020:E1314K	E	+	1	0	KIF15	44868416	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.274000	0.72587	2.702000	0.92279	0.556000	0.70494	GAA	KIF15	-	NULL		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	G			44893412	1	no_errors	ENST00000326047	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44893412	G	A	44893412	3	1	153	1	0	0	0	0	1	0	0	0	8297	943	33	1	4070	1	KIF15	3	44893412	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1770588	44893412	153129018	237	26211										
KIF15	56992	genome.wustl.edu	37	chr3	44893430	44893430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaaatgtatgaagaaagaGagagaacatcccaggtgtgc	12	5	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:44893430G>C	ENST00000326047.4	+	33	4107	c.3958G>C	c.(3958-3960)Gag>Cag	p.E1320Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E955Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1320					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGAAGAAAGAGAGAGAACATC	0.383																																																	0													124	114	118					3																	44893430		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3958G>C	3.37:g.44893430G>C	ENSP00000324020:p.Glu1320Gln		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E1320Q	ENST00000326047.4	37	c.3958	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407856	0.62399	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.26223	1.75;1.75	5.72	5.72	0.89469	.	0.122451	0.36409	N	0.002616	T	0.19005	0.0456	L	0.33485	1.01	0.37752	D	0.926027	P	0.36048	0.534	B	0.32289	0.143	T	0.09818	-1.0657	10	0.22706	T	0.39	.	14.0878	0.64971	0.0716:0.0:0.9283:0.0	.	1320	Q9NS87	KIF15_HUMAN	Q	1320;955	ENSP00000324020:E1320Q;ENSP00000389982:E955Q	ENSP00000324020:E1320Q	E	+	1	0	KIF15	44868434	1.000000	0.71417	0.965000	0.40720	0.696000	0.40369	4.345000	0.59360	2.706000	0.92434	0.561000	0.74099	GAG	KIF15	-	NULL		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	G			44893430	1	no_errors	ENST00000326047	ensembl	human	known	70_37	missense	SNP	0.987	C	C	44893430	G	C	44893430	3	2	153	1	0	0	0	0	1	0	0	0	8297	943	33	1	4088	1	KIF15	3	44893430	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	18	44893430	153129000	238	26212										
FYCO1	79443	genome.wustl.edu	37	chr3	46008585	46008585	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgttggcctttctctgctgtGaggacctcaatcagctgggt	12	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46008585G>C	ENST00000296137.2	-	8	2446	c.2241C>G	c.(2239-2241)ctC>ctG	p.L747L	FYCO1_ENST00000535325.1_Silent_p.L747L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	747					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTCTGCTGTGAGGACCTCAA	0.622																																																	0													93	93	93					3																	46008585		2203	4300	6503	SO:0001819	synonymous_variant	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2241C>G	3.37:g.46008585G>C			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.L747	ENST00000296137.2	37	c.2241	CCDS2734.1	3																																																																																			FYCO1	-	NULL		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	G	NM_024513		46008585	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	silent	SNP	0.002	C	C	46008585	G	C	46008585	2	2	153	1	0	0	0	0	0	0	0	1	6143	1277	45	1		1	FYCO1	3	46008585	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1115155	46008585	152013845	239	26213										
CCR5	1234	genome.wustl.edu	37	chr3	46415353	46415353	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagcacattgccaaacgcttCtgcaaatgctgttctatttt	6	10	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46415353C>T	ENST00000292303.4	+	2	1106	c.960C>T	c.(958-960)ttC>ttT	p.F320F	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Silent_p.F320F|CCR5_ENST00000445772.1_Silent_p.F320F	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	320					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CCAAACGCTTCTGCAAATGCT	0.498																																																	0													134	131	132					3																	46415353		2203	4296	6499	SO:0001819	synonymous_variant	1234				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.960C>T	3.37:g.46415353C>T			O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt	p.F320	ENST00000292303.4	37	c.960	CCDS2739.1	3																																																																																			CCR5	-	NULL		0.498	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR5	HGNC	protein_coding	OTTHUMT00000257377.2	C	NM_000579		46415353	1	no_errors	ENST00000292303	ensembl	human	known	70_37	silent	SNP	0.531	T	T	46415353	C	T	46415353	2	4	153	1	0	0	0	0	0	0	0	1	2949	912	32	1		1	CCR5	3	46415353	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	406768	46415353	151607077	240	26214										
CCRL2	9034	genome.wustl.edu	37	chr3	46450134	46450134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcatttagcagaactcccttCctgccagctgatgagacatt	8	12	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46450134C>G	ENST00000399036.3	+	2	916	c.564C>G	c.(562-564)ttC>ttG	p.F188L	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400880.3_Missense_Mutation_p.F188L|CCRL2_ENST00000357392.4_Missense_Mutation_p.F200L|CCRL2_ENST00000400882.2_Missense_Mutation_p.F188L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	188					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GAACTCCCTTCCTGCCAGCTG	0.413																																																	0													106	103	104					3																	46450134		1910	4121	6031	SO:0001583	missense	9034			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.564C>G	3.37:g.46450134C>G	ENSP00000381994:p.Phe188Leu		B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.F200L	ENST00000399036.3	37	c.600	CCDS43079.1	3	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047435	0.36085	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.39	0.703	0.18116	GPCR, rhodopsin-like superfamily (1);	2.963490	0.00988	N	0.003486	T	0.42854	0.1221	M	0.76433	2.335	0.09310	N	1	B;B	0.19331	0.028;0.035	B;B	0.20184	0.016;0.028	T	0.35325	-0.9793	10	0.62326	D	0.03	.	7.8739	0.29582	0.0:0.3421:0.0:0.6579	.	200;188	O00421-2;O00421	.;CCRL2_HUMAN	L	188;200;188;188;188	ENSP00000381994:F188L;ENSP00000349967:F200L;ENSP00000383677:F188L;ENSP00000414957:F188L;ENSP00000383678:F188L	ENSP00000349967:F200L	F	+	3	2	CCRL2	46425138	0.116000	0.22171	0.097000	0.21041	0.177000	0.22998	0.586000	0.23894	-0.016000	0.14127	0.484000	0.47621	TTC	CCRL2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	C			46450134	1	no_errors	ENST00000357392	ensembl	human	known	70_37	missense	SNP	0.000	G	G	46450134	C	G	46450134	3	3	153	1	0	0	0	0	1	0	0	0	2955	854	30	1	606	1	CCRL2	3	46450134	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	34781	46450134	151572296	241	26215										
PTH1R	5745	genome.wustl.edu	37	chr3	46940273	46940273	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgccacgcttgatgaggctGagcgcctcaccgaggaggag	16	12	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46940273G>C	ENST00000313049.5	+	7	963	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	PTH1R_ENST00000430002.2_Missense_Mutation_p.E254Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.E254Q|PTH1R_ENST00000449590.1_Missense_Mutation_p.E254Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	254					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	TGATGAGGCTGAGCGCCTCAC	0.682																																																	0													33	27	29					3																	46940273		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.760G>C	3.37:g.46940273G>C	ENSP00000321999:p.Glu254Gln		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.E254Q	ENST00000313049.5	37	c.760	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225833	0.58668	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.71	4.71	0.59529	GPCR, family 2-like (1);	.	.	.	.	T	0.36358	0.0964	L	0.31845	0.965	0.58432	D	0.999998	B	0.19817	0.039	B	0.29267	0.1	T	0.12604	-1.0541	9	0.23302	T	0.38	.	16.6272	0.84974	0.0:0.0:1.0:0.0	.	254	Q03431	PTH1R_HUMAN	Q	254;254;254;254;254;452	ENSP00000402723:E254Q;ENSP00000411424:E254Q;ENSP00000400977:E254Q;ENSP00000413774:E254Q;ENSP00000321999:E254Q	ENSP00000321999:E254Q	E	+	1	0	PTH1R	46915277	1.000000	0.71417	0.961000	0.40146	0.959000	0.62525	7.726000	0.84824	2.151000	0.67156	0.561000	0.74099	GAG	PTH1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt		0.682	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	G	NM_000316		46940273	1	no_errors	ENST00000313049	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46940273	G	C	46940273	3	2	153	1	0	0	0	0	1	0	0	0	12786	1291	45	1	786	1	PTH1R	3	46940273	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	490139	46940273	151082157	242	26216										
PTPN23	25930	genome.wustl.edu	37	chr3	47451199	47451199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatgaagcctatgaggacctGatgaagaagtcgcaggaggg	15	6	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:47451199G>A	ENST00000265562.4	+	19	2081	c.2004G>A	c.(2002-2004)ctG>ctA	p.L668L	PTPN23_ENST00000431726.1_Silent_p.L542L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	668					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGAGGACCTGATGAAGAAGT	0.637																																																	0													40	42	41					3																	47451199		2203	4300	6503	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2004G>A	3.37:g.47451199G>A			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L668	ENST00000265562.4	37	c.2004	CCDS2754.1	3																																																																																			PTPN23	-	NULL		0.637	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	G	NM_015466		47451199	1	no_errors	ENST00000265562	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47451199	G	A	47451199	2	1	153	1	0	0	0	0	0	0	0	1	12818	1277	45	1		1	PTPN23	3	47451199	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	510926	47451199	150571231	243	26217										
PLXNB1	5364	genome.wustl.edu	37	chr3	48465445	48465445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaaggcagcttgggggtcGggcggccacagggcccgggt	21	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48465445G>A	ENST00000358536.4	-	3	845	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PLXNB1_ENST00000358459.4_Silent_p.P192P|PLXNB1_ENST00000296440.6_Silent_p.P192P|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.P192P	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	192	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTGGGGGTCGGGCGGCCACA	0.662																																																	0													11	13	13					3																	48465445		2200	4296	6496	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.576C>T	3.37:g.48465445G>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P192	ENST00000358536.4	37	c.576	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	G	NM_002673		48465445	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	silent	SNP	0.018	A	A	48465445	G	A	48465445	2	1	153	1	0	0	0	0	0	0	0	1	12147	1103	39	2		2	PLXNB1	3	48465445	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1014246	48465445	149556985	244	26218										
COL7A1	1294	genome.wustl.edu	37	chr3	48622354	48622354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaccttaccgggtccccacGagggccaggcaaccctggag	13	16	0	0	rs141720633		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48622354G>A	ENST00000328333.8	-	33	4107	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1334C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1334	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCCCCACGAGGGCCAGGC	0.647																																																	0								G	CYS/ARG	0,4402		0,0,2201	59	62	61		4000	4.4	1	3	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	1334/2945	48622354	1,13001	2201	4300	6501	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4000C>T	3.37:g.48622354G>A	ENSP00000332371:p.Arg1334Cys		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1334C	ENST00000328333.8	37	c.4000	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021570	0.19433	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97016	-4.21;-4.21	5.33	4.45	0.53987	.	0.545817	0.15031	N	0.284475	D	0.94823	0.8328	M	0.76433	2.335	0.38165	D	0.939144	B	0.06786	0.001	B	0.06405	0.002	D	0.93153	0.6551	10	0.59425	D	0.04	.	8.2939	0.31973	0.1804:0.0:0.8196:0.0	.	1334	Q02388	CO7A1_HUMAN	C	1334	ENSP00000332371:R1334C;ENSP00000412569:R1334C	ENSP00000332371:R1334C	R	-	1	0	COL7A1	48597358	0.001000	0.12720	0.978000	0.43139	0.759000	0.43091	0.344000	0.19962	1.251000	0.43983	-0.136000	0.14681	CGT	COL7A1	-	pfam_Collagen		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48622354	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.629	A	A	48622354	G	A	48622354	3	1	153	1	0	0	0	0	1	0	0	0	3709	1058	37	1	5178	1	COL7A1	3	48622354	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	156909	48622354	149400076	245	26219										
CELSR3	1951	genome.wustl.edu	37	chr3	48681729	48681729	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaaacatggtcccgttcatCtggacccacggccagacatg	10	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48681729C>G	ENST00000164024.4	-	27	8366		c.e27-1		CELSR3_ENST00000544264.1_Splice_Site|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCGTTCATCTGGACCCACG	0.602																																																	0													54	50	51					3																	48681729		2202	4300	6502	SO:0001630	splice_region_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8086-1G>C	3.37:g.48681729C>G			O75092	Splice_Site	SNP	-	e28-1	ENST00000164024.4	37	c.8101-1	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	c	17.83	3.484861	0.63962	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8781	0.63665	0.0:0.9239:0.0:0.0761	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR3	48656733	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.396000	0.66297	2.382000	0.81193	0.556000	0.70494	.	CELSR3	-	-		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407	Intron	48681729	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	48681729	C	G	48681729	5	3	153	1	0	0	0	0	0	0	1	0	3228	927	32	1	1889	1	CELSR3	3	48681729	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	59375	48681729	149340701	246	26220										
WDR6	11180	genome.wustl.edu	37	chr3	49051433	49051433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcatggttactccggacccCagcaccccaagccgcctcgc	8	19	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:49051433C>T	ENST00000608424.1	+	2	2505	c.2466C>T	c.(2464-2466)ccC>ccT	p.P822P	WDR6_ENST00000415265.2_Silent_p.P270P|WDR6_ENST00000395474.3_Silent_p.P852P|WDR6_ENST00000448293.1_Silent_p.P771P			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	822					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTCCGGACCCCAGCACCCCAA	0.627											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50	47	48					3																	49051433		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2466C>T	3.37:g.49051433C>T		959	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P852	ENST00000608424.1	37	c.2556		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom		0.627	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	C			49051433	1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49051433	C	T	49051433	2	4	153	1	0	0	0	0	0	0	0	1	17341	581	21	4		4	WDR6	3	49051433	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	369704	49051433	148970997	247	26221										
USP4	7375	genome.wustl.edu	37	chr3	49321551	49321551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgtggcctgttgatgcttCttacagttgggacagtacct	11	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:49321551C>G	ENST00000265560.4	-	19	2455	c.2409G>C	c.(2407-2409)aaG>aaC	p.K803N	USP4_ENST00000351842.4_Missense_Mutation_p.K756N	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	803	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GTTGATGCTTCTTACAGTTGG	0.517																																																	0													136	121	126					3																	49321551		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2409G>C	3.37:g.49321551C>G	ENSP00000265560:p.Lys803Asn		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.K803N	ENST00000265560.4	37	c.2409	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.375782|4.375782	0.82682|0.82682	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.02974	.|4.09;4.09	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13415|0.13415	0.0325|0.0325	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.91635	.|0.989;0.999;0.993	T|T	0.00042|0.00042	-1.2230|-1.2230	5|10	.|0.62326	.|D	.|0.03	-26.0699|-26.0699	11.2037|11.2037	0.48756|0.48756	0.0:0.9153:0.0:0.0847|0.0:0.9153:0.0:0.0847	.|.	.|756;803;803	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	Q|N	542|756;803	.|ENSP00000341028:K756N;ENSP00000265560:K803N	.|ENSP00000265560:K803N	E|K	-|-	1|3	0|2	USP4|USP4	49296555|49296555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.359000|3.359000	0.52292|0.52292	2.514000|2.514000	0.84764|0.84764	0.655000|0.655000	0.94253|0.94253	GAA|AAG	USP4	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.517	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	C	NM_199443		49321551	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49321551	C	G	49321551	3	3	153	1	0	0	0	0	1	0	0	0	17102	912	32	1	498	1	USP4	3	49321551	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	270118	49321551	148700879	248	26222										
RASSF1	11334	genome.wustl.edu	37	chr3	50368087	50368087	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tacttctgcaggatctggcgGaggtgctcctcctcctcccg	11	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:50368087G>A	ENST00000232496.4	-	0	0				RASSF1_ENST00000327761.3_Silent_p.L246L|RASSF1_ENST00000357043.2_Silent_p.L320L|RASSF1_ENST00000395126.3_Silent_p.L165L|TUSC2_ENST00000462137.1_5'Flank|RASSF1_ENST00000359365.4_Silent_p.L316L	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCTGGCGGAGGTGCTCCT	0.597																																																	0													107	98	101					3																	50368087		2203	4300	6503	SO:0001631	upstream_gene_variant	11186			AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"PDGFA associated protein 2"	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368087G>A	Exception_encountered		B2R4Y9	Silent	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L320	ENST00000232496.4	37	c.960	CCDS2819.1	3																																																																																			RASSF1	-	pfscan_SARAH		0.597	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000346399.1	G	NM_007275		50368087	-1	no_errors	ENST00000357043	ensembl	human	known	70_37	silent	SNP	0.995	A	A	50368087	G	A	50368087	1	1	153	0	1	0	0	0	0	0	0	0	13114	1161	41	1		1	RASSF1	3	50368087	5'Flank	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1046536	50368087	147654343	249	26223										
CACNA2D2	9254	genome.wustl.edu	37	chr3	50402378	50402378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtatcgcggtctctgcactaGctcacactgctccgggccgt	11	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:50402378G>A	ENST00000479441.1	-	38	3252	c.3253C>T	c.(3253-3255)Cta>Tta	p.L1085L	CACNA2D2_ENST00000266039.3_Silent_p.L1080L|CACNA2D2_ENST00000360963.3_Silent_p.L1011L|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.L1078L|CACNA2D2_ENST00000435965.1_Silent_p.L1088L|CACNA2D2_ENST00000423994.2_Silent_p.L1088L|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000429770.1_Silent_p.L1079L|CACNA2D2_ENST00000395083.1_Silent_p.L1081L|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1085					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCTGCACTAGCTCACACTGC	0.716																																																	0													39	41	40					3																	50402378		2203	4300	6503	SO:0001819	synonymous_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3253C>T	3.37:g.50402378G>A			A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L1088	ENST00000479441.1	37	c.3262	CCDS54588.1	3																																																																																			CACNA2D2	-	NULL		0.716	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	G	NM_006030		50402378	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50402378	G	A	50402378	2	1	153	1	0	0	0	0	0	0	0	1	2554	962	34	4		4	CACNA2D2	3	50402378	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	34291	50402378	147620052	250	26224										
DOCK3	1795	genome.wustl.edu	37	chr3	51251581	51251581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttctctgcagcttcttcgTggagacatggaacagattcg	10	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:51251581T>C	ENST00000266037.9	+	14	1178	c.1155T>C	c.(1153-1155)cgT>cgC	p.R385R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	385					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCTTCTTCGTGGAGACATGG	0.378																																																	0													94	90	91					3																	51251581		1870	4125	5995	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1155T>C	3.37:g.51251581T>C			O15017	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R385	ENST00000266037.9	37	c.1155	CCDS46835.1	3																																																																																			DOCK3	-	NULL		0.378	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	T	NM_004947		51251581	1	no_errors	ENST00000266037	ensembl	human	known	70_37	silent	SNP	1.000	C	C	51251581	T	C	51251581	2	2	153	1	0	0	0	0	0	0	0	1	4698	1683	59	5		5	DOCK3	3	51251581	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	849203	51251581	146770849	251	26225										
TLR9	54106	genome.wustl.edu	37	chr3	52255789	52255789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaagccaggccaggcacaggTggaagcagtaccagaggtcc	15	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:52255789T>A	ENST00000360658.2	-	2	3176	c.2543A>T	c.(2542-2544)cAc>cTc	p.H848L	TLR9_ENST00000494383.1_Silent_p.P1001P|TLR9_ENST00000597542.1_Missense_Mutation_p.H872L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	848					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CAGGCACAGGTGGAAGCAGTA	0.642																																																	0													54	53	53					3																	52255789		2203	4300	6503	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2543A>T	3.37:g.52255789T>A	ENSP00000353874:p.His848Leu		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.H872L	ENST00000360658.2	37	c.2615	CCDS2848.1	3	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584416	0.46110	.	.	ENSG00000239732	ENST00000360658	T	0.26810	1.71	4.97	4.97	0.65823	.	0.000000	0.39544	N	0.001333	T	0.29524	0.0736	M	0.68952	2.095	0.35554	D	0.804106	B;B	0.29085	0.084;0.232	B;B	0.28553	0.043;0.091	T	0.43605	-0.9381	10	0.87932	D	0	.	12.5789	0.56380	0.0:0.0:0.0:1.0	.	945;848	B4E0A1;Q9NR96	.;TLR9_HUMAN	L	848	ENSP00000353874:H848L	ENSP00000353874:H848L	H	-	2	0	TLR9	52230829	0.066000	0.20996	0.992000	0.48379	0.882000	0.50991	2.193000	0.42658	1.862000	0.54008	0.459000	0.35465	CAC	TLR9	-	NULL		0.642	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	HGNC	protein_coding	OTTHUMT00000350203.1	T			52255789	-1	no_errors	ENST00000597542	ensembl	human	known	70_37	missense	SNP	0.998	A	A	52255789	T	A	52255789	3	1	153	1	0	0	0	0	1	0	0	0	15988	1696	59	5	559	5	TLR9	3	52255789	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	1004208	52255789	145766641	252	26226										
DNAH1	25981	genome.wustl.edu	37	chr3	52384529	52384529	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacctgtctgtgcaggagcgGattgtgaaggtcatggatga	15	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:52384529G>T	ENST00000420323.2	+	16	2913	c.2652G>T	c.(2650-2652)cgG>cgT	p.R884R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	884	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCAGGAGCGGATTGTGAAGG	0.542																																																	0													77	80	79					3																	52384529		2033	4188	6221	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2652G>T	3.37:g.52384529G>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.R884	ENST00000420323.2	37	c.2652	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52384529	1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.989	T	T	52384529	G	T	52384529	2	4	153	1	0	0	0	0	0	0	0	1	4607	1161	41	3		3	DNAH1	3	52384529	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	128740	52384529	145637901	253	26227										
DNAH1	25981	genome.wustl.edu	37	chr3	52398849	52398849	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagccggcacctgctgcagGagctgatctgcctccgggcc	13	16	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:52398849G>A	ENST00000420323.2	+	34	5593	c.5332G>A	c.(5332-5334)Gag>Aag	p.E1778K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1778					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTGCTGCAGGAGCTGATCTG	0.647																																																	0													56	61	59					3																	52398849		2146	4255	6401	SO:0001630	splice_region_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5332-1G>A	3.37:g.52398849G>A			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.E1778K	ENST00000420323.2	37	c.5332	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079568	0.76528	.	.	ENSG00000114841	ENST00000420323	T	0.26373	1.74	4.49	4.49	0.54785	.	0.143672	0.31335	N	0.007822	T	0.47911	0.1471	M	0.91406	3.205	0.80722	D	1	P	0.48998	0.918	P	0.47827	0.558	T	0.64011	-0.6507	9	.	.	.	.	17.2058	0.86917	0.0:0.0:1.0:0.0	.	1778	C9JXH6	.	K	1778	ENSP00000401514:E1778K	.	E	+	1	0	DNAH1	52373889	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	6.071000	0.71229	2.068000	0.61886	0.467000	0.42956	GAG	DNAH1	-	NULL		0.647	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512	Missense_Mutation	52398849	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52398849	G	A	52398849	5	1	153	1	0	0	0	0	0	0	1	0	4607	1188	41	1	5462	1	DNAH1	3	52398849	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	14320	52398849	145623581	254	26228										
ARHGEF3	50650	genome.wustl.edu	37	chr3	56787552	56787552	+	Missense_Mutation	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttttttgctaatttcaagtCttctatcaagtcttcttctc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:56787552C>T	ENST00000296315.3	-	4	586	c.418G>A	c.(418-420)Gac>Aac	p.D140N	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D111N|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D146N|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D140N|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.D146N|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D172N	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	140	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AATTTCAAGTCTTCTATCAAG	0.358																																																	0													127	129	128					3																	56787552		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.418G>A	3.37:g.56787552C>T	ENSP00000296315:p.Asp140Asn		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D172N	ENST00000296315.3	37	c.514	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.614257	0.96649	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.63	5.63	0.86233	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.996;0.998;0.998;0.998	D;D;D;D;D;D	0.87578	0.95;0.998;0.95;0.917;0.95;0.917	D	0.84339	0.0526	10	0.87932	D	0	-9.1337	19.6522	0.95822	0.0:1.0:0.0:0.0	.	146;111;140;172;140;146	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	N	140;172;146;146;111;140;141;158	ENSP00000296315:D140N;ENSP00000341071:D172N;ENSP00000410922:D146N;ENSP00000420420:D146N;ENSP00000418826:D111N;ENSP00000417986:D140N;ENSP00000417087:D141N;ENSP00000420402:D158N	ENSP00000296315:D140N	D	-	1	0	ARHGEF3	56762592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.826000	0.97356	0.655000	0.94253	GAC	ARHGEF3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.358	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	C	NM_019555		56787552	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56787552	C	T	56787552	3	4	153	1	0	0	0	0	1	0	0	0	904	913	32	1	1190	1	ARHGEF3	3	56787552	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4388703	56787552	141234878	255	26229	153	2								
ARHGEF3	50650	genome.wustl.edu	37	chr3	56787559	56787559	+	Missense_Mutation	SNP	C	C	G													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctaatttcaagtcttctatCaagtcttcttctccttggga							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:56787559C>G	ENST00000296315.3	-	4	579	c.411G>C	c.(409-411)ttG>ttC	p.L137F	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L108F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L143F|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L137F|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L143F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L169F	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	137	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AGTCTTCTATCAAGTCTTCTT	0.343																																																	0													123	126	125					3																	56787559		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.411G>C	3.37:g.56787559C>G	ENSP00000296315:p.Leu137Phe		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L169F	ENST00000296315.3	37	c.507	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840270	0.71488	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.63	1.51	0.23008	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.59436	1.845	0.53688	D	0.999979	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998;0.997	D;D;D;D;D;D	0.71870	0.975;0.975;0.944;0.943;0.966;0.943	T	0.59408	-0.7460	10	0.27785	T	0.31	-6.5301	9.573	0.39440	0.0:0.5279:0.0:0.4721	.	143;108;137;169;137;143	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	F	137;169;143;143;108;137;138;155	ENSP00000296315:L137F;ENSP00000341071:L169F;ENSP00000410922:L143F;ENSP00000420420:L143F;ENSP00000418826:L108F;ENSP00000417986:L137F;ENSP00000417087:L138F;ENSP00000420402:L155F	ENSP00000296315:L137F	L	-	3	2	ARHGEF3	56762599	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.853000	0.27777	0.050000	0.15949	0.655000	0.94253	TTG	ARHGEF3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.343	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	C	NM_019555		56787559	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56787559	C	G	56787559	3	3	153	1	0	0	0	0	1	0	0	0	904	825	29	1	1197	1	ARHGEF3	3	56787559	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7	56787559	141234871	256	26230	153	2								
DNAH12	201625	genome.wustl.edu	37	chr3	57528442	57528442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttacactaactgattaatTttctgctgctgctccttgga	6	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:57528442T>C	ENST00000351747.2	-	2	336	c.156A>G	c.(154-156)aaA>aaG	p.K52K	DNAH12_ENST00000311202.6_Silent_p.K52K|DNAH12_ENST00000389536.4_Silent_p.K52K	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	52	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ACTGATTAATTTTCTGCTGCT	0.358																																																	0													122	112	116					3																	57528442		2203	4300	6503	SO:0001819	synonymous_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.156A>G	3.37:g.57528442T>C			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K52	ENST00000351747.2	37	c.156		3																																																																																			DNAH12	-	NULL		0.358	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		T	NM_178504		57528442	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	silent	SNP	0.001	C	C	57528442	T	C	57528442	2	2	153	1	0	0	0	0	0	0	0	1	4610	1838	64	5		5	DNAH12	3	57528442	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	740883	57528442	140493988	257	26231										
FLNB	2317	genome.wustl.edu	37	chr3	58109341	58109341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcgaactcgtgccacacttCcccgcccgggtcaaggtgga	13	15	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:58109341C>T	ENST00000295956.4	+	21	3813	c.3648C>T	c.(3646-3648)ttC>ttT	p.F1216F	FLNB_ENST00000419752.2_Silent_p.F1047F|FLNB_ENST00000348383.5_Silent_p.F1216F|FLNB_ENST00000490882.1_Silent_p.F1216F|FLNB_ENST00000493452.1_Silent_p.F1047F|FLNB_ENST00000429972.2_Silent_p.F1216F|FLNB_ENST00000358537.3_Silent_p.F1216F|FLNB_ENST00000357272.4_Silent_p.F1216F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1216	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCACACTTCCCCGCCCGGG	0.537																																																	0													38	39	38					3																	58109341		2200	4296	6496	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3648C>T	3.37:g.58109341C>T			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F1216	ENST00000295956.4	37	c.3648	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.537	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58109341	1	no_errors	ENST00000295956	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58109341	C	T	58109341	2	4	153	1	0	0	0	0	0	0	0	1	5952	854	30	1		1	FLNB	3	58109341	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	580899	58109341	139913089	258	26232										
FAM107A	11170	genome.wustl.edu	37	chr3	58552947	58552947	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcacccacctggttcagcctCtgctgccgtctcagcagctc	8	18	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:58552947C>G	ENST00000394481.1	-	4	873	c.315G>C	c.(313-315)caG>caC	p.Q105H	FAM107A_ENST00000360997.2_Missense_Mutation_p.Q105H|FAM107A_ENST00000474531.1_Missense_Mutation_p.Q136H|FAM107A_ENST00000447756.2_Missense_Mutation_p.Q133H|FAM107A_ENST00000464064.1_Missense_Mutation_p.Q105H	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	105					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GGTTCAGCCTCTGCTGCCGTC	0.632																																																	0													47	39	42					3																	58552947		2203	4300	6503	SO:0001583	missense	11170			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.315G>C	3.37:g.58552947C>G	ENSP00000377991:p.Gln105His		B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	pfam_DUF1151	p.Q105H	ENST00000394481.1	37	c.315	CCDS2892.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001648	0.74932	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.05	4.15	0.48705	.	0.113222	0.64402	D	0.000009	T	0.67859	0.2938	M	0.81497	2.545	0.54753	D	0.999984	D;D;D;D	0.71674	0.997;0.998;0.997;0.995	D;D;D;D	0.85130	0.997;0.994;0.997;0.944	T	0.72047	-0.4408	10	0.87932	D	0	-61.8083	11.8666	0.52496	0.0:0.8581:0.0:0.1419	.	133;105;136;105	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	H	105;105;105;136;133;105	ENSP00000354270:Q105H;ENSP00000377991:Q105H;ENSP00000419529:Q105H;ENSP00000419124:Q136H;ENSP00000400858:Q133H;ENSP00000418038:Q105H	ENSP00000354270:Q105H	Q	-	3	2	FAM107A	58527987	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.517000	0.45529	2.512000	0.84698	0.591000	0.81541	CAG	FAM107A	-	pfam_DUF1151		0.632	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM107A	HGNC	protein_coding	OTTHUMT00000353585.1	C	NM_007177		58552947	-1	no_errors	ENST00000360997	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58552947	C	G	58552947	3	3	153	1	0	0	0	0	1	0	0	0	5404	912	32	1	127	1	FAM107A	3	58552947	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	443606	58552947	139469483	259	26233										
C3orf67	200844	genome.wustl.edu	37	chr3	58852388	58852388	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatagttgatgctttatcttCaatcctattatttcctgaag	6	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:58852388C>G	ENST00000482387.1	-	7	883	c.787G>C	c.(787-789)Gaa>Caa	p.E263Q	C3orf67_ENST00000472469.1_Missense_Mutation_p.E170Q|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.E263Q|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	263										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GCTTTATCTTCAATCCTATTA	0.373																																																	0													139	139	139					3																	58852388		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.787G>C	3.37:g.58852388C>G	ENSP00000417122:p.Glu263Gln		B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.E263Q	ENST00000482387.1	37	c.787		3	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441328	0.25900	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.20332	2.15;2.14;2.08	5.88	5.01	0.66863	.	0.549745	0.19851	N	0.104628	T	0.25975	0.0633	L	0.58101	1.795	0.58432	D	0.999995	P;P;P	0.49783	0.928;0.587;0.835	P;B;B	0.44897	0.463;0.221;0.369	T	0.02713	-1.1120	10	0.62326	D	0.03	-2.2945	11.078	0.48043	0.0:0.9149:0.0:0.0851	.	170;263;263	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	Q	263;263;170	ENSP00000295966:E263Q;ENSP00000417122:E263Q;ENSP00000417271:E170Q	ENSP00000295966:E263Q	E	-	1	0	C3orf67	58827428	0.667000	0.27484	0.057000	0.19452	0.040000	0.13550	0.929000	0.28844	1.494000	0.48533	0.655000	0.94253	GAA	C3orf67	-	NULL		0.373	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	C	NM_198463		58852388	-1	no_errors	ENST00000482387	ensembl	human	known	70_37	missense	SNP	0.591	G	G	58852388	C	G	58852388	3	3	153	1	0	0	0	0	1	0	0	0	2246	835	29	1	928	1	C3orf67	3	58852388	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	299441	58852388	139170042	260	26234										
CADPS	8618	genome.wustl.edu	37	chr3	62499355	62499355	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaggccaagcagaagacagGatgctcatacatttctctct	10	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:62499355G>T	ENST00000383710.4	-	17	2931				CADPS_ENST00000283269.9_Missense_Mutation_p.P870T|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAGAAGACAGGATGCTCATAC	0.428																																																	0													115	91	99					3																	62499355		2203	4300	6503	SO:0001627	intron_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-912C>A	3.37:g.62499355G>T			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P870T	ENST00000383710.4	37	c.2608	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547792	0.45383	.	.	ENSG00000163618	ENST00000283269	T	0.42131	0.98	5.41	5.41	0.78517	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.50516	-0.8819	8	0.16420	T	0.52	.	19.5632	0.95380	0.0:0.0:1.0:0.0	.	870	Q9ULU8-3	.	T	870	ENSP00000283269:P870T	ENSP00000283269:P870T	P	-	1	0	CADPS	62474395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.710000	0.92621	0.655000	0.94253	CCT	CADPS	-	pfam_Ca-dep_secretion_activator		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394		62499355	-1	no_errors	ENST00000283269	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62499355	G	T	62499355	1	4	153	0	1	0	0	0	0	0	0	0	2575	1174	41	3		3	CADPS	3	62499355	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3646967	62499355	135523075	261	26235										
FOXP1	27086	genome.wustl.edu	37	chr3	71037200	71037200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgcaggtgggtcatcatgGcttgcaggcgttctttgtct	13	9	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:71037200G>A	ENST00000318789.4	-	14	1616	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	FOXP1_ENST00000484350.1_Missense_Mutation_p.A288V|FOXP1_ENST00000475937.1_Missense_Mutation_p.A364V|FOXP1_ENST00000493089.1_Missense_Mutation_p.A364V|FOXP1_ENST00000468577.1_Missense_Mutation_p.A364V|FOXP1_ENST00000498215.1_Missense_Mutation_p.A364V|FOXP1_ENST00000491238.1_Missense_Mutation_p.A366V	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	364	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTCATCATGGCTTGCAGGCG	0.438			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													188	194	192					3																	71037200		2203	4300	6503	SO:0001583	missense	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1091C>T	3.37:g.71037200G>A	ENSP00000318902:p.Ala364Val		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A364V	ENST00000318789.4	37	c.1091	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.403976	0.96051	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.83118	2.625	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.942;0.998;0.999;0.997	D;P;D;D;D	0.75484	0.967;0.543;0.986;0.959;0.926	T	0.76124	-0.3074	10	0.87932	D	0	.	20.1306	0.97998	0.0:0.0:1.0:0.0	.	364;363;364;288;364	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	V	364;176;264;364;364;260;366;364;364;288;364	ENSP00000318902:A364V;ENSP00000419393:A364V;ENSP00000418225:A260V;ENSP00000420736:A366V;ENSP00000418524:A364V;ENSP00000418102:A364V;ENSP00000417857:A288V;ENSP00000418883:A364V	ENSP00000318902:A364V	A	-	2	0	FOXP1	71119890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.751000	0.94390	0.655000	0.94253	GCC	FOXP1	-	NULL		0.438	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	G	NM_032682		71037200	-1	no_errors	ENST00000318789	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71037200	G	A	71037200	3	1	153	1	0	0	0	0	1	0	0	0	6044	1203	42	4	974	4	FOXP1	3	71037200	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8537845	71037200	126985230	262	26236										
PROS1	5627	genome.wustl.edu	37	chr3	93646133	93646133	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagacctccctggcttcttcTttattgcacagttcttcgat	6	12	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:93646133T>C	ENST00000394236.3	-	2	511	c.195A>G	c.(193-195)aaA>aaG	p.K65K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	65	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGGCTTCTTCTTTATTGCACA	0.403																																																	0													116	112	114					3																	93646133		2203	4300	6503	SO:0001819	synonymous_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.195A>G	3.37:g.93646133T>C			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.K65	ENST00000394236.3	37	c.195	CCDS2923.1	3																																																																																			PROS1	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	T	NM_000313		93646133	-1	no_errors	ENST00000394236	ensembl	human	known	70_37	silent	SNP	1.000	C	C	93646133	T	C	93646133	2	2	153	1	0	0	0	0	0	0	0	1	12585	1606	56	5		5	PROS1	3	93646133	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	22608933	93646133	104376297	263	26237										
NSUN3	63899	genome.wustl.edu	37	chr3	93813021	93813021	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatatgatagtctgagattGaggtggctaaggcagacgtt	14	4	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:93813021G>C	ENST00000314622.4	+	4	715	c.504G>C	c.(502-504)ttG>ttC	p.L168F		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	168							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTCTGAGATTGAGGTGGCTAA	0.353																																																	0													84	79	81					3																	93813021		2203	4300	6503	SO:0001583	missense	63899			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.504G>C	3.37:g.93813021G>C	ENSP00000318986:p.Leu168Phe		Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L168F	ENST00000314622.4	37	c.504	CCDS2927.1	3	.	.	.	.	.	.	.	.	.	.	G	0.140	-1.102958	0.01828	.	.	ENSG00000178694	ENST00000314622	T	0.27557	1.66	5.98	0.299	0.15771	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	1.008970	0.07934	N	0.977996	T	0.22475	0.0542	L	0.48260	1.515	0.23309	N	0.997932	B	0.09022	0.002	B	0.10450	0.005	T	0.34551	-0.9824	10	0.14656	T	0.56	0.7759	4.5011	0.11865	0.4203:0.3067:0.2729:0.0	.	168	Q9H649	NSUN3_HUMAN	F	168	ENSP00000318986:L168F	ENSP00000318986:L168F	L	+	3	2	NSUN3	95295711	0.997000	0.39634	0.543000	0.28128	0.016000	0.09150	0.448000	0.21726	0.067000	0.16545	-0.156000	0.13503	TTG	NSUN3	-	pfam_Fmu/NOL1/Nop2p		0.353	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1	G	NM_022072		93813021	1	no_errors	ENST00000314622	ensembl	human	known	70_37	missense	SNP	0.875	C	C	93813021	G	C	93813021	3	2	153	1	0	0	0	0	1	0	0	0	10703	1281	45	1	518	1	NSUN3	3	93813021	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	166888	93813021	104209409	264	26238										
ZBTB11	27107	genome.wustl.edu	37	chr3	101374961	101374961	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcattacctgtgtgaatactCatatgttcttgaagactccg	7	9	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:101374961C>G	ENST00000312938.4	-	7	2758	c.2178G>C	c.(2176-2178)atG>atC	p.M726I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	726					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTGAATACTCATATGTTCTT	0.299																																																	0													59	56	57					3																	101374961		2203	4300	6503	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2178G>C	3.37:g.101374961C>G	ENSP00000326200:p.Met726Ile		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M726I	ENST00000312938.4	37	c.2178	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586457	0.28268	.	.	ENSG00000066422	ENST00000312938	T	0.10573	2.86	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149056	0.64402	D	0.000008	T	0.13243	0.0321	L	0.53561	1.675	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.02226	-1.1192	10	0.37606	T	0.19	-4.2737	14.2894	0.66268	0.0:0.9294:0.0:0.0706	.	726	O95625	ZBT11_HUMAN	I	726	ENSP00000326200:M726I	ENSP00000326200:M726I	M	-	3	0	ZBTB11	102857651	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	3.438000	0.52871	2.765000	0.95021	0.650000	0.86243	ATG	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.299	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	C	NM_014415		101374961	-1	no_errors	ENST00000312938	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101374961	C	G	101374961	3	3	153	1	0	0	0	0	1	0	0	0	17554	826	29	1	1003	1	ZBTB11	3	101374961	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7561940	101374961	96647469	265	26239										
KIAA2018	205717	genome.wustl.edu	37	chr3	113388987	113388987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgcttcagggcaggagaaCatgggatcagctctcctatt	11	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:113388987C>G	ENST00000478658.1	-	3	157	c.140G>C	c.(139-141)tGt>tCt	p.C47S	KIAA2018_ENST00000316407.4_Missense_Mutation_p.C47S|KIAA2018_ENST00000491165.1_Missense_Mutation_p.C47S			Q68DE3	K2018_HUMAN	KIAA2018	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCAGGAGAACATGGGATCAG	0.373																																																	0													174	161	165					3																	113388987		1863	4104	5967	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.140G>C	3.37:g.113388987C>G	ENSP00000420721:p.Cys47Ser		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.C47S	ENST00000478658.1	37	c.140	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593232	0.86953	.	.	ENSG00000176542	ENST00000491165;ENST00000316407;ENST00000478658	D;D;D	0.97529	-4.42;-4.42;-4.42	5.2	5.2	0.72013	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.97278	0.9110	L	0.28400	0.85	0.51482	D	0.999928	D	0.89917	1.0	D	0.87578	0.998	D	0.98435	1.0584	9	0.87932	D	0	-4.9528	18.9342	0.92579	0.0:1.0:0.0:0.0	.	47	Q68DE3	K2018_HUMAN	S	47	ENSP00000420752:C47S;ENSP00000320794:C47S;ENSP00000420721:C47S	ENSP00000320794:C47S	C	-	2	0	KIAA2018	114871677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.168000	0.77570	2.703000	0.92315	0.650000	0.86243	TGT	KIAA2018	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113388987	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113388987	C	G	113388987	3	3	153	1	0	0	0	0	1	0	0	0	8288	478	17	4	6609	4	KIAA2018	3	113388987	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12014026	113388987	84633443	266	26240										
GPR156	165829	genome.wustl.edu	37	chr3	119886581	119886581	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggggcatcttttgggggctGaaggcagcactgttcttcca	14	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:119886581G>A	ENST00000464295.1	-	10	2188	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	GPR156_ENST00000461057.1_Silent_p.F577F|GPR156_ENST00000315843.3_Silent_p.F581F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	581						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTTGGGGGCTGAAGGCAGCAC	0.597																																																	0													34	39	37					3																	119886581		2200	4292	6492	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1743C>T	3.37:g.119886581G>A			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.F581	ENST00000464295.1	37	c.1743	CCDS2997.1	3																																																																																			GPR156	-	NULL		0.597	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	G	NM_153002		119886581	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	silent	SNP	0.036	A	A	119886581	G	A	119886581	2	1	153	1	0	0	0	0	0	0	0	1	6680	1281	45	1		1	GPR156	3	119886581	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6497594	119886581	78135849	267	26241										
ADCY5	111	genome.wustl.edu	37	chr3	123008634	123008634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgttgaaggagtgctcattGatgtacttcatctggtccat	10	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:123008634G>C	ENST00000462833.1	-	19	4707	c.3495C>G	c.(3493-3495)atC>atG	p.I1165M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I815M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I823M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1165	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTGCTCATTGATGTACTTCA	0.582																																																	0													160	144	149					3																	123008634		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3495C>G	3.37:g.123008634G>C	ENSP00000419361:p.Ile1165Met		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I1165M	ENST00000462833.1	37	c.3495	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655068	0.67472	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.31769	1.48;1.48;1.48	5.13	4.26	0.50523	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.139063	0.45867	D	0.000334	T	0.45895	0.1365	M	0.62723	1.935	0.52501	D	0.999953	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.988	T	0.48281	-0.9049	10	0.87932	D	0	.	3.718	0.08445	0.2205:0.0:0.5891:0.1904	.	1165;823	O95622;B3KWA8	ADCY5_HUMAN;.	M	1165;823;815	ENSP00000419361:I1165M;ENSP00000418537:I823M;ENSP00000308685:I815M	ENSP00000308685:I815M	I	-	3	3	ADCY5	124491324	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	1.388000	0.46506	0.555000	0.69702	ATC	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123008634	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123008634	G	C	123008634	3	2	153	1	0	0	0	0	1	0	0	0	297	1280	45	1	302	1	ADCY5	3	123008634	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3122053	123008634	75013796	268	26242										
HEG1	57493	genome.wustl.edu	37	chr3	124731882	124731882	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataagaggctgagaggtcttCagaatggtagttgtgaaagt	14	3	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:124731882C>T	ENST00000311127.4	-	6	2608	c.2541G>A	c.(2539-2541)ctG>ctA	p.L847L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	847					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGAGGTCTTCAGAATGGTAG	0.507																																																	0													212	213	213					3																	124731882		2071	4214	6285	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2541G>A	3.37:g.124731882C>T			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.L847	ENST00000311127.4	37	c.2541	CCDS46898.1	3																																																																																			HEG1	-	NULL		0.507	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	C	XM_087386		124731882	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	silent	SNP	0.000	T	T	124731882	C	T	124731882	2	4	153	1	0	0	0	0	0	0	0	1	7064	813	29	1		1	HEG1	3	124731882	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1723248	124731882	73290548	269	26243										
ROPN1B	152015	genome.wustl.edu	37	chr3	125702118	125702118	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attggtcctgatggtttaatCacggtgaatgactttaccca	9	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:125702118C>G	ENST00000514116.1	+	7	909	c.594C>G	c.(592-594)atC>atG	p.I198M	ROPN1B_ENST00000505382.1_Missense_Mutation_p.I106M|ROPN1B_ENST00000251776.4_Missense_Mutation_p.I198M|ROPN1B_ENST00000511082.1_Missense_Mutation_p.I106M			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	198					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATGGTTTAATCACGGTGAATG	0.368																																																	0													135	124	128					3																	125702118		2203	4300	6503	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.594C>G	3.37:g.125702118C>G	ENSP00000426271:p.Ile198Met		D3DNA6|Q96BM7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.I198M	ENST00000514116.1	37	c.594	CCDS33841.1	3	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649782	0.29336	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.16	2.16	0.27623	.	0.175092	0.41712	D	0.000832	T	0.35508	0.0934	L	0.57536	1.79	0.28053	N	0.933285	D	0.60575	0.988	D	0.69654	0.965	T	0.03503	-1.1030	10	0.87932	D	0	-12.1279	7.9327	0.29912	0.0:1.0:0.0:0.0	.	198	Q9BZX4	ROP1B_HUMAN	M	198;198;106;106	ENSP00000426271:I198M;ENSP00000251776:I198M;ENSP00000421662:I106M;ENSP00000424447:I106M	ENSP00000251776:I198M	I	+	3	3	ROPN1B	127184808	1.000000	0.71417	0.999000	0.59377	0.476000	0.33039	2.465000	0.45075	1.514000	0.48869	0.454000	0.30748	ATC	ROPN1B	-	NULL		0.368	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	C	NM_001012337		125702118	1	no_errors	ENST00000251776	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125702118	C	G	125702118	3	3	153	1	0	0	0	0	1	0	0	0	13554	816	29	1	612	1	ROPN1B	3	125702118	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	970236	125702118	72320312	270	26244										
ALDH1L1	10840	genome.wustl.edu	37	chr3	125836938	125836938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agagtctctggccgaccaggGagcctgtgggcgggagggag	20	9	1	1	rs142947117		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:125836938G>C	ENST00000393434.2	-	17	2241	c.1892C>G	c.(1891-1893)tCc>tGc	p.S631C	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S641C|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S530C|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S631C	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	631	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.S631F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCGACCAGGGAGCCTGTGGG	0.622																																																	1	Substitution - Missense(1)	skin(1)											39	38	38					3																	125836938		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1892C>G	3.37:g.125836938G>C	ENSP00000377083:p.Ser631Cys		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.S631C	ENST00000393434.2	37	c.1892	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	g	10.24	1.294855	0.23564	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.45	3.55	0.40652	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.299857	0.31897	N	0.006899	D	0.83885	0.5351	M	0.74881	2.28	0.24258	N	0.995296	D;D	0.69078	0.997;0.972	P;P	0.58172	0.829;0.834	T	0.76737	-0.2849	10	0.72032	D	0.01	.	12.0292	0.53388	0.0:0.1762:0.8238:0.0	.	530;631	E9PBX3;O75891	.;AL1L1_HUMAN	C	641;631;530;631	ENSP00000273450:S641C;ENSP00000420293:S631C;ENSP00000395881:S530C;ENSP00000377083:S631C	ENSP00000273450:S641C	S	-	2	0	ALDH1L1	127319628	0.646000	0.27295	0.271000	0.24616	0.001000	0.01503	1.229000	0.32600	1.075000	0.40932	-0.492000	0.04666	TCC	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH		0.622	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	G	NM_012190		125836938	-1	no_errors	ENST00000393434	ensembl	human	known	70_37	missense	SNP	0.147	C	C	125836938	G	C	125836938	3	2	153	1	0	0	0	0	1	0	0	0	494	1174	41	1	844	1	ALDH1L1	3	125836938	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	134820	125836938	72185492	271	26245										
KBTBD12	166348	genome.wustl.edu	37	chr3	127703061	127703061	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtctgcctagtagccaggatGaatccccgagacctcatccc	9	15	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:127703061G>A	ENST00000405109.1	+	6	2279	c.1812G>A	c.(1810-1812)atG>atA	p.M604I	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.M179I|KBTBD12_ENST00000407609.3_Missense_Mutation_p.M211I|KBTBD12_ENST00000405256.1_Missense_Mutation_p.M604I			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	604										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TAGCCAGGATGAATCCCCGAG	0.502																																																	0													134	122	126					3																	127703061		2203	4300	6503	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1812G>A	3.37:g.127703061G>A	ENSP00000385957:p.Met604Ile		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M604I	ENST00000405109.1	37	c.1812	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785964	0.70337	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;D	0.81739	-0.75;-0.55;-0.75;-1.53	6.08	6.08	0.98989	.	0.250811	0.35067	N	0.003478	T	0.69178	0.3082	N	0.08118	0	0.49483	D	0.999798	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.63427	-0.6640	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	604;179	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	I	604;211;604;179	ENSP00000385957:M604I;ENSP00000385830:M211I;ENSP00000385879:M604I;ENSP00000345478:M179I	ENSP00000345478:M179I	M	+	3	0	KBTBD12	129185751	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.511000	0.53400	2.894000	0.99253	0.591000	0.81541	ATG	KBTBD12	-	pirsf_Kelch-like_gigaxonin		0.502	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	G	NM_207335		127703061	1	no_errors	ENST00000405109	ensembl	human	known	70_37	missense	SNP	1.000	A	A	127703061	G	A	127703061	3	1	153	1	0	0	0	0	1	0	0	0	8011	1290	45	1	1830	1	KBTBD12	3	127703061	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1866123	127703061	70319369	272	26246										
RAB7A	7879	genome.wustl.edu	37	chr3	128516831	128516831	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagtatgtgaataagaaattCagcaatcagtacaaagccac	7	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:128516831C>G	ENST00000265062.3	+	3	345	c.99C>G	c.(97-99)ttC>ttG	p.F33L	RAB7A_ENST00000482525.1_Missense_Mutation_p.F33L|RAB7A_ENST00000485280.1_Missense_Mutation_p.F33L	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		ATAAGAAATTCAGCAATCAGT	0.428																																																	0													152	134	140					3																	128516831		2203	4300	6503	SO:0001583	missense	7879			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"RAB, member RAS oncogene"	9788	protein-coding gene	gene with protein product		602298	"RAB7, member RAS oncogene family"	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.99C>G	3.37:g.128516831C>G	ENSP00000265062:p.Phe33Leu		A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F33L	ENST00000265062.3	37	c.99	CCDS3052.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615026	0.87359	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.69	3.92	0.45320	Small GTP-binding protein domain (1);	.	.	.	.	D	0.93684	0.7982	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.985	D	0.93777	0.7080	9	0.87932	D	0	-8.1104	12.0659	0.53588	0.0:0.8241:0.0:0.1759	.	33;33	C9J8S3;P51149	.;RAB7A_HUMAN	L	33	ENSP00000265062:F33L;ENSP00000417668:F33L;ENSP00000417978:F33L;ENSP00000418955:F33L;ENSP00000417189:F33L;ENSP00000417155:F33L;ENSP00000418283:F33L	ENSP00000265062:F33L	F	+	3	2	RAB7A	129999521	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	1.749000	0.38319	0.783000	0.33636	0.655000	0.94253	TTC	RAB7A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB7A	HGNC	protein_coding	OTTHUMT00000357479.1	C			128516831	1	no_errors	ENST00000265062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128516831	C	G	128516831	3	3	153	1	0	0	0	0	1	0	0	0	12984	825	29	1	105	1	RAB7A	3	128516831	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	813770	128516831	69505599	273	26247										
GP9	2815	genome.wustl.edu	37	chr3	128780619	128780619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccctgttcctgctctgggccAcagcagaggccaccaaggac	11	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:128780619A>G	ENST00000307395.4	+	3	259	c.37A>G	c.(37-39)Aca>Gca	p.T13A		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	13					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCTCTGGGCCACAGCAGAGGC	0.687																																																	0													20	21	21					3																	128780619		2201	4298	6499	SO:0001583	missense	2815				CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"CD molecules"	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.37A>G	3.37:g.128780619A>G	ENSP00000303942:p.Thr13Ala		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C	p.T13A	ENST00000307395.4	37	c.37	CCDS3055.1	3	.	.	.	.	.	.	.	.	.	.	A	1.794	-0.478880	0.04414	.	.	ENSG00000169704	ENST00000307395	T	0.78924	-1.22	4.23	-7.76	0.01232	.	1.125280	0.06927	N	0.810405	T	0.34600	0.0903	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.06236	T	0.91	-0.0018	1.1067	0.01695	0.4488:0.1188:0.1723:0.2602	.	13	P14770	GPIX_HUMAN	A	13	ENSP00000303942:T13A	ENSP00000303942:T13A	T	+	1	0	GP9	130263309	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.194000	0.01243	-1.343000	0.02219	-0.695000	0.03696	ACA	GP9	-	NULL		0.687	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP9	HGNC	protein_coding	OTTHUMT00000358428.1	A			128780619	1	no_errors	ENST00000307395	ensembl	human	known	70_37	missense	SNP	0.000	G	G	128780619	A	G	128780619	3	3	153	1	0	0	0	0	1	0	0	0	6604	159	6	5	39	5	GP9	3	128780619	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	263788	128780619	69241811	274	26248										
COL6A5	256076	genome.wustl.edu	37	chr3	130124985	130124985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catctctcagggaggtcatgGagacgatgggattgatggac	15	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:130124985G>C	ENST00000432398.2	+	16	4885	c.4391G>C	c.(4390-4392)gGa>gCa	p.G1464A	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1464A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1464	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGGTCATGGAGACGATGGG	0.403																																																	0													157	125	135					3																	130124985		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4391G>C	3.37:g.130124985G>C	ENSP00000390895:p.Gly1464Ala		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1464A	ENST00000432398.2	37	c.4391		3	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369410	0.24771	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.99607	-5.75;-6.27	5.86	4.98	0.66077	.	.	.	.	.	D	0.99764	0.9904	H	0.96398	3.815	0.33018	D	0.528432	D	0.89917	1.0	D	0.97110	1.0	D	0.97069	0.9776	9	0.87932	D	0	.	15.9745	0.80049	0.0:0.1353:0.8647:0.0	.	1464	A8TX70-2	.	A	1464	ENSP00000390895:G1464A;ENSP00000265379:G1464A	ENSP00000265379:G1464A	G	+	2	0	COL6A5	131607675	1.000000	0.71417	0.550000	0.28217	0.010000	0.07245	4.164000	0.58190	1.465000	0.48006	0.650000	0.86243	GGA	COL6A5	-	pfam_Collagen		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130124985	1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.983	C	C	130124985	G	C	130124985	3	2	153	1	0	0	0	0	1	0	0	0	3707	1174	41	1	4449	1	COL6A5	3	130124985	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1344366	130124985	67897445	275	26249										
NUDT16	131870	genome.wustl.edu	37	chr3	131100998	131100998	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctgcgcgaggagctgggcGaagcggctgccgctttccgc	17	13	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:131100998G>C	ENST00000521288.1	+	2	278	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	NUDT16_ENST00000502852.1_Missense_Mutation_p.E83Q|NUDT16_ENST00000359850.3_Missense_Mutation_p.E50Q|NUDT16_ENST00000537561.1_Missense_Mutation_p.E37Q|RP11-933H2.4_ENST00000502521.1_RNA			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	83	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						GGAGCTGGGCGAAGCGGCTGC	0.677																																																	0													22	26	25					3																	131100998		2194	4268	6462	SO:0001583	missense	131870			AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.247G>C	3.37:g.131100998G>C	ENSP00000429274:p.Glu83Gln		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E83Q	ENST00000521288.1	37	c.247	CCDS3070.2	3	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529043	0.44969	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	3.72	2.82	0.32997	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.381407	0.23429	N	0.048263	T	0.11836	0.0288	N	0.17474	0.49	0.27677	N	0.94657	D;D	0.89917	0.986;1.0	P;D	0.70716	0.74;0.97	T	0.14254	-1.0479	10	0.25751	T	0.34	-12.9481	9.9911	0.41872	0.0:0.4047:0.5953:0.0	.	83;50	Q96DE0;B4E3B4	NUD16_HUMAN;.	Q	37;50;83;83	ENSP00000440230:E37Q;ENSP00000352911:E50Q;ENSP00000429274:E83Q;ENSP00000422375:E83Q	ENSP00000352911:E50Q	E	+	1	0	NUDT16	132583688	0.090000	0.21635	0.959000	0.39883	0.576000	0.36127	0.848000	0.27710	0.882000	0.36016	0.555000	0.69702	GAA	NUDT16	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.677	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16	HGNC	protein_coding	OTTHUMT00000356537.9	G	NM_152395		131100998	1	no_errors	ENST00000521288	ensembl	human	known	70_37	missense	SNP	0.915	C	C	131100998	G	C	131100998	3	2	153	1	0	0	0	0	1	0	0	0	10756	1059	37	1	253	1	NUDT16	3	131100998	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	976013	131100998	66921432	276	26250										
DNAJC13	23317	genome.wustl.edu	37	chr3	132172523	132172523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctataatattgcaacattGaagcctttaggagaagtaag	8	6	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:132172523G>A	ENST00000260818.6	+	8	1073	c.825G>A	c.(823-825)ttG>ttA	p.L275L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	275					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGCAACATTGAAGCCTTTAG	0.303																																																	0													98	110	106					3																	132172523		2203	4300	6503	SO:0001819	synonymous_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.825G>A	3.37:g.132172523G>A			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.L275	ENST00000260818.6	37	c.825	CCDS33857.1	3																																																																																			DNAJC13	-	NULL		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	G	NM_015268		132172523	1	no_errors	ENST00000260818	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132172523	G	A	132172523	2	1	153	1	0	0	0	0	0	0	0	1	4642	1281	45	1		1	DNAJC13	3	132172523	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1071525	132172523	65849907	277	26251										
ACAD11	84129	genome.wustl.edu	37	chr3	132294659	132294659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagctatcctttgtgttgccCgctcacacatgatctgcaaa	7	12	2	1	rs140419880		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:132294659C>T	ENST00000264990.6	-	17	2929	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.R178Q	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	653					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTGTGTTGCCCGCTCACACAT	0.458													C|||	1	0.000199681	0	0	5008	,	,		18090	0		0.001	False		,,,				2504	0																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	107	100	103		1958	5.6	0.9	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACAD11	NM_032169.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		653/781	132294659	2,13004	2203	4300	6503	SO:0001583	missense	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1958G>A	3.37:g.132294659C>T	ENSP00000264990:p.Arg653Gln		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.R653Q	ENST00000264990.6	37	c.1958	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786394	0.90367	2.27E-4	1.16E-4	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.96073	-3.9;-3.9	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98394	0.9466	M	0.93898	3.47	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	9	0.87932	D	0	.	18.353	0.90344	0.0:1.0:0.0:0.0	.	653	Q709F0	ACD11_HUMAN	Q	653;178	ENSP00000264990:R653Q;ENSP00000446263:R178Q	ENSP00000264990:R653Q	R	-	2	0	ACAD11	133777349	1.000000	0.71417	0.858000	0.33744	0.442000	0.32017	7.179000	0.77665	2.615000	0.88500	0.591000	0.81541	CGG	ACAD11	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	C	NM_032169		132294659	-1	no_errors	ENST00000264990	ensembl	human	known	70_37	missense	SNP	0.995	T	T	132294659	C	T	132294659	3	4	153	1	0	0	0	0	1	0	0	0	109	652	23	2	400	2	ACAD11	3	132294659	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	122136	132294659	65727771	278	26252										
TOPBP1	11073	genome.wustl.edu	37	chr3	133342989	133342989	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttggccgcccttgatagatGaaatgagtcactgtttcatc	9	9	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:133342989G>T	ENST00000260810.5	-	17	2966	c.2835C>A	c.(2833-2835)ttC>ttA	p.F945L		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	945	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTGATAGATGAAATGAGTCA	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													129	120	123					3																	133342989		1848	4093	5941	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2835C>A	3.37:g.133342989G>T	ENSP00000260810:p.Phe945Leu		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.F945L	ENST00000260810.5	37	c.2835	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011743	0.75046	.	.	ENSG00000163781	ENST00000260810	T	0.31510	1.49	5.45	3.67	0.42095	BRCT (4);	0.097300	0.64402	D	0.000001	T	0.18551	0.0445	N	0.25957	0.775	0.43058	D	0.994676	B	0.30889	0.299	B	0.34722	0.188	T	0.04693	-1.0933	10	0.05721	T	0.95	.	9.2133	0.37331	0.2207:0.0:0.7793:0.0	.	945	Q92547	TOPB1_HUMAN	L	945	ENSP00000260810:F945L	ENSP00000260810:F945L	F	-	3	2	TOPBP1	134825679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.736000	0.55052	0.675000	0.31264	0.585000	0.79938	TTC	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	G	NM_007027		133342989	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133342989	G	T	133342989	3	4	153	1	0	0	0	0	1	0	0	0	16400	1281	45	3	1781	3	TOPBP1	3	133342989	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1048330	133342989	64679441	279	26253										
SLCO2A1	6578	genome.wustl.edu	37	chr3	133661572	133661572	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcacgatcctgtctttgctGaagcggatcccccggtcaca	11	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:133661572G>T	ENST00000310926.4	-	11	1775	c.1502C>A	c.(1501-1503)tCa>tAa	p.S501*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.S425*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	501					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TGTCTTTGCTGAAGCGGATCC	0.522																																																	0													120	117	118					3																	133661572		2203	4300	6503	SO:0001587	stop_gained	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1502C>A	3.37:g.133661572G>T	ENSP00000311291:p.Ser501*		Q86V98|Q8IUN2	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S501*	ENST00000310926.4	37	c.1502	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738492	0.89573	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.56	5.56	0.83823	.	0.497220	0.22204	N	0.063186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5387	0.95266	0.0:0.0:1.0:0.0	.	.	.	.	X	501;425	.	ENSP00000311291:S501X	S	-	2	0	SLCO2A1	135144262	0.997000	0.39634	0.177000	0.23020	0.130000	0.20726	4.495000	0.60353	2.634000	0.89283	0.561000	0.74099	TCA	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.522	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	G	NM_005630		133661572	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	nonsense	SNP	0.295	T	T	133661572	G	T	133661572	4	4	153	1	0	0	0	0	0	1	0	0	14756	1294	45	3	445	3	SLCO2A1	3	133661572	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	318583	133661572	64360858	280	26254										
SLCO2A1	6578	genome.wustl.edu	37	chr3	133664099	133664099	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgcggatgtatagaacttGatgtgctgccagcaaaagag	12	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:133664099G>C	ENST00000310926.4	-	10	1574	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.S358*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	434					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TATAGAACTTGATGTGCTGCC	0.527																																																	0													106	116	112					3																	133664099		2203	4300	6503	SO:0001587	stop_gained	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1301C>G	3.37:g.133664099G>C	ENSP00000311291:p.Ser434*		Q86V98|Q8IUN2	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S434*	ENST00000310926.4	37	c.1301	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.753643	0.96890	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.3	5.3	0.74995	.	1.119980	0.06457	N	0.728851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.977	0.53098	0.0833:0.0:0.9167:0.0	.	.	.	.	X	434;358	.	ENSP00000311291:S434X	S	-	2	0	SLCO2A1	135146789	0.993000	0.37304	1.000000	0.80357	0.953000	0.61014	1.408000	0.34668	2.661000	0.90470	0.491000	0.48974	TCA	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.527	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	G	NM_005630		133664099	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	nonsense	SNP	0.998	C	C	133664099	G	C	133664099	4	2	153	1	0	0	0	0	0	1	0	0	14756	1294	45	1	650	1	SLCO2A1	3	133664099	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2527	133664099	64358331	281	26255										
ZIC4	84107	genome.wustl.edu	37	chr3	147121823	147121823	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccccaaaggtaataagctCcttccagcacaaatcaggaa	6	12	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:147121823C>T	ENST00000484399.1	-	0	248				ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Intron|ZIC4_ENST00000525172.2_Silent_p.R21R|ZIC4_ENST00000425731.3_Intron|ZIC4_ENST00000383075.3_Intron			Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTAATAAGCTCCTTCCAGCAC	0.483																																																	0													68	58	61					3																	147121823		692	1591	2283	SO:0001623	5_prime_UTR_variant	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000484399.1:c.-88G>A	3.37:g.147121823C>T			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R21	ENST00000484399.1	37	c.63	CCDS43160.1	3																																																																																			ZIC4	-	NULL		0.483	ZIC4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355507.1	C			147121823	-1	no_errors	ENST00000525172	ensembl	human	known	70_37	silent	SNP	0.638	T	T	147121823	C	T	147121823	1	4	153	0	1	0	0	0	0	0	0	0	17711	854	30	1		1	ZIC4	3	147121823	5'UTR	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	13457724	147121823	50900607	282	26256										
GPR171	29909	genome.wustl.edu	37	chr3	150916599	150916599	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggatattaaaatgatggctGagaaatttaaaaatattgct	8	2	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:150916599G>A	ENST00000309180.5	-	3	805	c.575C>T	c.(574-576)tCa>tTa	p.S192L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGATGGCTGAGAAATTTAA	0.313																																																	0													43	46	45					3																	150916599		2203	4300	6503	SO:0001583	missense	29909			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.575C>T	3.37:g.150916599G>A	ENSP00000308479:p.Ser192Leu		D3DNJ4|Q8IV06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.S192L	ENST00000309180.5	37	c.575	CCDS3155.1	3	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866575	0.72065	.	.	ENSG00000174946	ENST00000309180	T	0.28666	1.6	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.23289	0.0563	N	0.08118	0	0.44798	D	0.997808	D	0.52996	0.957	P	0.50405	0.64	T	0.02868	-1.1100	10	0.02654	T	1	-16.6118	19.5182	0.95174	0.0:0.0:1.0:0.0	.	192	O14626	GP171_HUMAN	L	192	ENSP00000308479:S192L	ENSP00000308479:S192L	S	-	2	0	GPR171	152399289	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.904000	0.63279	2.603000	0.88011	0.655000	0.94253	TCA	GPR171	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.313	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR171	HGNC	protein_coding	OTTHUMT00000357793.1	G	NM_013308		150916599	-1	no_errors	ENST00000309180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150916599	G	A	150916599	3	1	153	1	0	0	0	0	1	0	0	0	6687	1294	45	1	388	1	GPR171	3	150916599	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3794776	150916599	47105831	283	26257										
IGSF10	285313	genome.wustl.edu	37	chr3	151161083	151161083	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttggtaaactgtaatggtttCacttcagtgccatcagagag	10	7	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:151161083C>T	ENST00000282466.3	-	5	5651	c.5652G>A	c.(5650-5652)gtG>gtA	p.V1884V	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1884	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAATGGTTTCACTTCAGTGC	0.428																																																	0													71	75	73					3																	151161083		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5652G>A	3.37:g.151161083C>T			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V1884	ENST00000282466.3	37	c.5652	CCDS3160.1	3																																																																																			IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151161083	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	silent	SNP	0.119	T	T	151161083	C	T	151161083	2	4	153	1	0	0	0	0	0	0	0	1	7617	813	29	1		1	IGSF10	3	151161083	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	244484	151161083	46861347	284	26258										
IGSF10	285313	genome.wustl.edu	37	chr3	151163396	151163396	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atggtggtatggttgagtgtCtaatgattgctttcctagtt	12	4	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:151163396C>G	ENST00000282466.3	-	4	4372	c.4373G>C	c.(4372-4374)aGa>aCa	p.R1458T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1458					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTGAGTGTCTAATGATTGC	0.468																																																	0													172	147	155					3																	151163396		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4373G>C	3.37:g.151163396C>G	ENSP00000282466:p.Arg1458Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R1458T	ENST00000282466.3	37	c.4373	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	3.397	-0.123023	0.06795	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66995	-0.24	4.52	1.34	0.21922	.	1.358240	0.05287	N	0.520440	T	0.50205	0.1602	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37454	-0.9705	10	0.40728	T	0.16	.	5.7703	0.18249	0.0:0.398:0.4136:0.1884	.	1458	Q6WRI0	IGS10_HUMAN	T	1458;85	ENSP00000282466:R1458T	ENSP00000282466:R1458T	R	-	2	0	IGSF10	152646086	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.059000	0.14322	0.559000	0.29153	0.650000	0.86243	AGA	IGSF10	-	NULL		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151163396	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.000	G	G	151163396	C	G	151163396	3	3	153	1	0	0	0	0	1	0	0	0	7617	913	32	1	3558	1	IGSF10	3	151163396	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2313	151163396	46859034	285	26259										
TRIM59	286827	genome.wustl.edu	37	chr3	160156451	160156451	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccttggatcattttctcaGaatgagatttttgttctttc	7	8	3	2	rs375673052		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:160156451G>A	ENST00000309784.4	-	3	706	c.521C>T	c.(520-522)tCt>tTt	p.S174F	TRIM59_ENST00000543469.1_Missense_Mutation_p.S174F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S174F	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	174					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CATTTTCTCAGAATGAGATTT	0.373																																																	0								G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	111	111	111		521	3.5	1	3		111	0,8600		0,0,4300	no	missense	TRIM59	NM_173084.2	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	174/404	160156451	1,13005	2203	4300	6503	SO:0001583	missense	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.521C>T	3.37:g.160156451G>A	ENSP00000311219:p.Ser174Phe		A8K5G9|D3DNL9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S174F	ENST00000309784.4	37	c.521	CCDS3190.1	3	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255104	0.39896	2.27E-4	0.0	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460	T;T;T	0.23552	2.05;1.9;2.02	5.52	3.46	0.39613	.	0.416766	0.27478	N	0.019200	T	0.15046	0.0363	L	0.34521	1.04	0.33877	D	0.635667	B	0.31054	0.306	B	0.24541	0.054	T	0.11179	-1.0598	9	.	.	.	-20.4857	7.5933	0.28033	0.1015:0.3917:0.5068:0.0	.	174	Q8IWR1	TRI59_HUMAN	F	174	ENSP00000444313:S174F;ENSP00000311219:S174F;ENSP00000417081:S174F	.	S	-	2	0	TRIM59	161639145	0.986000	0.35501	0.963000	0.40424	0.970000	0.65996	1.862000	0.39448	2.600000	0.87896	0.561000	0.74099	TCT	TRIM59	-	NULL		0.373	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Uniprot_genename	protein_coding	OTTHUMT00000352963.1	G	NM_173084		160156451	-1	no_errors	ENST00000483754	ensembl	human	known	70_37	missense	SNP	0.915	A	A	160156451	G	A	160156451	3	1	153	1	0	0	0	0	1	0	0	0	16563	942	33	1	694	1	TRIM59	3	160156451	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8993055	160156451	37865979	286	26260										
SI	6476	genome.wustl.edu	37	chr3	164700155	164700155	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccaagcctcgtttcacttTtatttatgtaacctctcttc	3	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:164700155T>A	ENST00000264382.3	-	47	5353	c.5291A>T	c.(5290-5292)aAa>aTa	p.K1764I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1764	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGTTTCACTTTTATTTATGTA	0.338										HNSCC(35;0.089)																																							0													127	121	123					3																	164700155		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5291A>T	3.37:g.164700155T>A	ENSP00000264382:p.Lys1764Ile		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.K1764I	ENST00000264382.3	37	c.5291	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	T	7.191	0.591549	0.13812	.	.	ENSG00000090402	ENST00000264382	D	0.89415	-2.51	4.56	-3.53	0.04667	.	0.891435	0.09688	N	0.768803	T	0.80314	0.4600	L	0.38531	1.155	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.63466	-0.6631	10	0.38643	T	0.18	.	6.7498	0.23482	0.0:0.3682:0.3768:0.255	.	1764	P14410	SUIS_HUMAN	I	1764	ENSP00000264382:K1764I	ENSP00000264382:K1764I	K	-	2	0	SI	166182849	0.000000	0.05858	0.002000	0.10522	0.343000	0.28985	-1.396000	0.02513	-0.836000	0.04229	0.482000	0.46254	AAA	SI	-	NULL		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	T	NM_001041		164700155	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.001	A	A	164700155	T	A	164700155	3	1	153	1	0	0	0	0	1	0	0	0	14327	1841	64	5	200	5	SI	3	164700155	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	4543704	164700155	33322275	287	26261										
ZBBX	79740	genome.wustl.edu	37	chr3	166958617	166958617	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacggtagtgtgatgacatgTtgcttgttgagaaaatcttc	11	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:166958617T>A	ENST00000392766.2	-	21	2707	c.2367A>T	c.(2365-2367)caA>caT	p.Q789H	ZBBX_ENST00000307529.5_Missense_Mutation_p.Q828H|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q828H|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q789H|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q760H	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	789						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGATGACATGTTGCTTGTTGA	0.378																																																	0													189	178	182					3																	166958617		1914	4122	6036	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2367A>T	3.37:g.166958617T>A	ENSP00000376519:p.Gln789His		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.Q828H	ENST00000392766.2	37	c.2484	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319338	0.41096	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.21	2.74	0.32292	.	0.266538	0.26931	N	0.021779	T	0.59649	0.2209	L	0.47716	1.5	0.26629	N	0.972511	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.936	T	0.50964	-0.8765	10	0.87932	D	0	0.0269	7.0091	0.24853	0.0:0.1817:0.0:0.8183	.	828;789	A8MT70-2;A8MT70	.;ZBBX_HUMAN	H	789;789;828;828;760	ENSP00000376519:Q789H;ENSP00000376520:Q789H;ENSP00000390232:Q828H;ENSP00000305065:Q828H;ENSP00000376517:Q760H	ENSP00000305065:Q828H	Q	-	3	2	ZBBX	168441311	0.999000	0.42202	0.971000	0.41717	0.279000	0.26890	0.535000	0.23114	0.492000	0.27815	0.455000	0.32223	CAA	ZBBX	-	NULL		0.378	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	T	NM_024687		166958617	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	0.995	A	A	166958617	T	A	166958617	3	1	153	1	0	0	0	0	1	0	0	0	17547	1722	60	5	39	5	ZBBX	3	166958617	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	2258462	166958617	31063813	288	26262										
FNDC3B	64778	genome.wustl.edu	37	chr3	172016570	172016570	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttagaccagcaacagattatCatgtgaggtgagttaggata	11	5	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:172016570C>T	ENST00000336824.4	+	9	1153	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.H352Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.H352Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	352	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AACAGATTATCATGTGAGGTG	0.363																																																	0													118	122	121					3																	172016570		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1054C>T	3.37:g.172016570C>T	ENSP00000338523:p.His352Tyr		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.H352Y	ENST00000336824.4	37	c.1054	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000090	0.54147	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.75447	2.3	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.19148	0.013;0.024	T	0.48163	-0.9059	10	0.30854	T	0.27	-19.9125	14.1106	0.65120	0.0:0.928:0.0:0.072	.	352;352	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	352	ENSP00000411242:H352Y;ENSP00000338523:H352Y;ENSP00000389094:H352Y	ENSP00000338523:H352Y	H	+	1	0	FNDC3B	173499264	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.300000	0.65721	2.793000	0.96121	0.655000	0.94253	CAT	FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.363	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	C	NM_022763		172016570	1	no_errors	ENST00000336824	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172016570	C	T	172016570	3	4	153	1	0	0	0	0	1	0	0	0	5988	826	29	1	1084	1	FNDC3B	3	172016570	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5057953	172016570	26005860	289	26263										
GHSR	2693	genome.wustl.edu	37	chr3	172165378	172165378	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagaggataggacccgcgaGagaaagcctgagcgcgcgct	17	10	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:172165378G>C	ENST00000241256.2	-	1	839				GHSR_ENST00000427970.1_Missense_Mutation_p.L276V	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor						actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGACCCGCGAGAGAAAGCCTG	0.592																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0													81	91	88					3																	172165378		2203	4300	6503	SO:0001627	intron_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.796+29C>G	3.37:g.172165378G>C			Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn	p.L276V	ENST00000241256.2	37	c.826	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.559357	0.00910	.	.	ENSG00000121853	ENST00000427970	T	0.61392	0.11	4.24	-0.236	0.13067	.	.	.	.	.	T	0.22627	0.0546	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23084	-1.0198	8	0.02654	T	1	.	1.0363	0.01549	0.215:0.1767:0.4276:0.1808	.	276	Q92847-2	.	V	276	ENSP00000395344:L276V	ENSP00000395344:L276V	L	-	1	0	GHSR	173648072	0.002000	0.14202	0.002000	0.10522	0.089000	0.18198	-0.102000	0.10956	-0.055000	0.13244	-0.384000	0.06662	CTC	GHSR	-	pfscan_GPCR_Rhodpsn_7TM		0.592	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1	G	NM_004122		172165378	-1	no_errors	ENST00000427970	ensembl	human	known	70_37	missense	SNP	0.001	C	C	172165378	G	C	172165378	1	2	153	0	1	0	0	0	0	0	0	0	6394	942	33	1		1	GHSR	3	172165378	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	148808	172165378	25857052	290	26264										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916836	178916836	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acattttcgtaagtgttactCaagaagcagaaagggaagaa	10	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:178916836C>G	ENST00000263967.3	+	2	380	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	75	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q75E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGTGTTACTCAAGAAGCAGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1	Substitution - Missense(1)	central_nervous_system(1)											101	96	97					3																	178916836		1816	4084	5900	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.223C>G	3.37:g.178916836C>G	ENSP00000263967:p.Gln75Glu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q75E	ENST00000263967.3	37	c.223	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182300	0.78677	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72942	-0.7;-0.7	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.62723	1.935	0.80722	D	1	P	0.49447	0.924	P	0.49252	0.604	T	0.75673	-0.3236	9	.	.	.	-0.0534	19.2635	0.93977	0.0:1.0:0.0:0.0	.	75	P42336	PK3CA_HUMAN	E	75	ENSP00000263967:Q75E;ENSP00000417479:Q75E	.	Q	+	1	0	PIK3CA	180399530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.547000	0.85894	0.555000	0.69702	CAA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	C			178916836	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178916836	C	G	178916836	3	3	153	1	0	0	0	0	1	0	0	0	11937	827	29	1	225	1	PIK3CA	3	178916836	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6751458	178916836	19105594	291	26265										
ZNF639	51193	genome.wustl.edu	37	chr3	179051197	179051197	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagaagtgcatgcgatttctGaggattatgatatagagaca	11	4	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:179051197G>A	ENST00000326361.3	+	7	890	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ZNF639_ENST00000496856.1_Missense_Mutation_p.E149K|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Missense_Mutation_p.E149K	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	149					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGCGATTTCTGAGGATTATGA	0.418																																																	0													69	68	68					3																	179051197		2203	4300	6503	SO:0001583	missense	51193			BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.445G>A	3.37:g.179051197G>A	ENSP00000325634:p.Glu149Lys		A9X3Z9|D3DNR3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E149K	ENST00000326361.3	37	c.445	CCDS3227.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183811	0.78677	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.03889	3.77;3.77;4.39;3.77	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.12518	0.0304	L	0.32530	0.975	0.46823	D	0.999212	D	0.63880	0.993	D	0.70935	0.971	T	0.21381	-1.0247	10	0.07325	T	0.83	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	149	Q9UID6	ZN639_HUMAN	K	149	ENSP00000417740:E149K;ENSP00000325634:E149K;ENSP00000419650:E149K;ENSP00000418766:E149K	ENSP00000325634:E149K	E	+	1	0	ZNF639	180533891	1.000000	0.71417	0.993000	0.49108	0.744000	0.42396	6.138000	0.71717	2.941000	0.99782	0.655000	0.94253	GAG	ZNF639	-	NULL		0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF639	HGNC	protein_coding	OTTHUMT00000348855.1	G	NM_016331		179051197	1	no_errors	ENST00000326361	ensembl	human	known	70_37	missense	SNP	0.999	A	A	179051197	G	A	179051197	3	1	153	1	0	0	0	0	1	0	0	0	18086	1291	45	1	459	1	ZNF639	3	179051197	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	134361	179051197	18971233	292	26266										
ACTL6A	86	genome.wustl.edu	37	chr3	179305797	179305797	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtagaaagaaaatgcccttGagaaagagttcccaagcttc	9	8	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:179305797G>C	ENST00000429709.2	+	14	1502	c.1289G>C	c.(1288-1290)tGa>tCa	p.*430S	ACTL6A_ENST00000392662.1_Nonstop_Mutation_p.*388S|ACTL6A_ENST00000450518.2_Nonstop_Mutation_p.*388S	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	0					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAATGCCCTTGAGAAAGAGTT	0.368																																																	0													85	104	97					3																	179305797		2203	4300	6503	SO:0001578	stop_lost	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1289G>C	3.37:g.179305797G>C	ENSP00000397552:p.*430Serext*54		B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Nonstop_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.*430S	ENST00000429709.2	37	c.1289	CCDS3231.1	3	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684820	0.47991	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7765	0.51989	0.086:0.0:0.914:0.0	.	.	.	.	S	430;388;388	.	.	X	+	2	2	ACTL6A	180788491	1.000000	0.71417	0.904000	0.35570	0.979000	0.70002	2.996000	0.49449	1.280000	0.44463	0.313000	0.20887	TGA	ACTL6A	-	NULL		0.368	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	G	NM_004301		179305797	1	no_errors	ENST00000429709	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	179305797	G	C	179305797	4	2	153	1	0	0	0	0	0	0	0	0	198	1285	45	1	1343	1	ACTL6A	3	179305797	Nonstop_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	254600	179305797	18716633	293	26267										
SOX2	6657	genome.wustl.edu	37	chr3	181430398	181430398	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgagtggaaacttttgtcgGagacggagaagcggccgttc	15	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:181430398G>T	ENST00000325404.1	+	1	677	c.250G>T	c.(250-252)Gag>Tag	p.E84*	SOX2_ENST00000431565.2_Nonsense_Mutation_p.E84*	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	84					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACTTTTGTCGGAGACGGAGAA	0.622			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													39	43	42					3																	181430398		2203	4300	6503	SO:0001587	stop_gained	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.250G>T	3.37:g.181430398G>T	ENSP00000323588:p.Glu84*		Q14537	Nonsense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E84*	ENST00000325404.1	37	c.250	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.085137	0.94100	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	.	.	.	5.0	5.0	0.66597	.	0.055499	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6633	0.88198	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000323588:E84X	E	+	1	0	SOX2	182913092	1.000000	0.71417	0.999000	0.59377	0.159000	0.22180	9.754000	0.98908	2.473000	0.83533	0.561000	0.74099	GAG	SOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.622	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	G	NM_003106		181430398	1	no_errors	ENST00000325404	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	181430398	G	T	181430398	4	4	153	1	0	0	0	0	0	1	0	0	14979	1175	41	3	252	3	SOX2	3	181430398	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2124601	181430398	16592032	294	26268										
AP2M1	1173	genome.wustl.edu	37	chr3	183898925	183898925	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggtgatgaagagctacctGagtggcatgcctgaatgcaa	14	7	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:183898925G>C	ENST00000292807.5	+	7	766	c.618G>C	c.(616-618)ctG>ctC	p.L206L	AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.L204L|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.L204L|AP2M1_ENST00000411763.2_Silent_p.L231L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	206	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGCTACCTGAGTGGCATGC	0.542																																																	0													157	166	163					3																	183898925		2102	4225	6327	SO:0001819	synonymous_variant	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.618G>C	3.37:g.183898925G>C			A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L206	ENST00000292807.5	37	c.618	CCDS43177.1	3																																																																																			AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.542	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	G	NM_004068		183898925	1	no_errors	ENST00000292807	ensembl	human	known	70_37	silent	SNP	1.000	C	C	183898925	G	C	183898925	2	2	153	1	0	0	0	0	0	0	0	1	742	1277	45	1		1	AP2M1	3	183898925	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2468527	183898925	14123505	295	26269										
AP2M1	1173	genome.wustl.edu	37	chr3	183898974	183898974	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaatgacaagattgttattGaaaagcagggcaaaggcaca	11	5	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:183898974G>A	ENST00000292807.5	+	7	815	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Missense_Mutation_p.E221K|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.E221K|AP2M1_ENST00000411763.2_Missense_Mutation_p.E248K	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	223	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATTGTTATTGAAAAGCAGGG	0.552																																																	0													143	150	148					3																	183898974		2060	4201	6261	SO:0001583	missense	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.667G>A	3.37:g.183898974G>A	ENSP00000292807:p.Glu223Lys		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.E223K	ENST00000292807.5	37	c.667	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236236	0.79800	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	6.07	6.07	0.98685	Clathrin adaptor, mu subunit, C-terminal (3);	0.043832	0.85682	D	0.000000	T	0.30823	0.0777	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.15141	0.012;0.011;0.005;0.004	B;B;B;B	0.18871	0.023;0.009;0.01;0.006	T	0.04320	-1.0960	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	113;93;223;221	B7Z4N2;B4DTI4;Q96CW1;Q96CW1-2	.;.;AP2M1_HUMAN;.	K	221;248;223;163;208;221	ENSP00000371894:E221K;ENSP00000403362:E248K;ENSP00000292807:E223K;ENSP00000409081:E221K	ENSP00000292807:E223K	E	+	1	0	AP2M1	185381668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.102000	0.94226	2.884000	0.98904	0.655000	0.94253	GAA	AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.552	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	G	NM_004068		183898974	1	no_errors	ENST00000292807	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183898974	G	A	183898974	3	1	153	1	0	0	0	0	1	0	0	0	742	1291	45	1	686	1	AP2M1	3	183898974	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	49	183898974	14123456	296	26270										
EHHADH	1962	genome.wustl.edu	37	chr3	184971748	184971748	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcccgttacctgatcgcgttGaccggcgggtttcggaggcg	16	12	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:184971748G>A	ENST00000231887.3	-	1	138	c.63C>T	c.(61-63)gtC>gtT	p.V21V	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000440662.1_Silent_p.V21V|EHHADH_ENST00000456310.1_5'UTR|hsa-mir-5588_ENST00000581890.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	21	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGATCGCGTTGACCGGCGGGT	0.667																																																	0													41	43	42					3																	184971748		2203	4300	6503	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.63C>T	3.37:g.184971748G>A			A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.V21	ENST00000231887.3	37	c.63	CCDS33901.1	3																																																																																			EHHADH	-	pfam_Crotonase_core		0.667	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	G			184971748	-1	no_errors	ENST00000231887	ensembl	human	known	70_37	silent	SNP	0.994	A	A	184971748	G	A	184971748	2	1	153	1	0	0	0	0	0	0	0	1	4992	1277	45	1		1	EHHADH	3	184971748	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1072774	184971748	13050682	297	26271										
FGF12	2257	genome.wustl.edu	37	chr3	191888293	191888293	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgagggcttggttttcttCactctgttccccttcataat	8	10	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:191888293C>T	ENST00000454309.2	-	4	1392	c.567G>A	c.(565-567)gtG>gtA	p.V189V	FGF12_ENST00000264730.3_Silent_p.V127V|FGF12_ENST00000430714.1_Silent_p.V90V|FGF12_ENST00000450716.1_Silent_p.V127V|FGF12_ENST00000445105.2_Silent_p.V127V	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	189					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGGTTTTCTTCACTCTGTTCC	0.428																																																	0													204	204	204					3																	191888293		2203	4300	6503	SO:0001819	synonymous_variant	2257			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.567G>A	3.37:g.191888293C>T			B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	p.V189	ENST00000454309.2	37	c.567	CCDS3301.1	3																																																																																			FGF12	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.428	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF12	HGNC	protein_coding	OTTHUMT00000343160.1	C	NM_021032		191888293	-1	no_errors	ENST00000454309	ensembl	human	known	70_37	silent	SNP	1.000	T	T	191888293	C	T	191888293	2	4	153	1	0	0	0	0	0	0	0	1	5859	813	29	1		1	FGF12	3	191888293	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6916545	191888293	6134137	298	26272										
ZNF732	654254	genome.wustl.edu	37	chr4	265445	265445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcattaagggttgtgaaccGactaaaggcttttccacatt	8	8	1	1	rs548117508	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:265445G>A	ENST00000419098.1	-	4	1211	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						GTTGTGAACCGACTAAAGGCT	0.428													.|||	2	0.000399361	0	0	5008	,	,		21051	0		0.001	False		,,,				2504	0.001																0													59	52	54					4																	265445		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1201C>T	4.37:g.265445G>A	ENSP00000415774:p.Arg401Trp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R401W	ENST00000419098.1	37	c.1201	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	1.586	-0.530272	0.04112	.	.	ENSG00000186777	ENST00000419098	T	0.19806	2.12	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	M	0.63169	1.94	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.23762	-1.0179	9	0.30078	T	0.28	.	7.3306	0.26580	0.0:0.0:1.0:0.0	.	401	B4DXR9	ZN732_HUMAN	W	401	ENSP00000415774:R401W	ENSP00000415774:R401W	R	-	1	2	ZNF732	255445	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-2.250000	0.01187	0.399000	0.25367	0.400000	0.26472	CGG	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	G	NM_001137608		265445	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	missense	SNP	0.001	A	A	265445	G	A	265445	3	1	153	1	0	0	0	0	1	0	0	0	18153	1057	37	1	560	1	ZNF732	4	265445	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		265445	190888831	299	26273										
SLC26A1	10861	genome.wustl.edu	37	chr4	983329	983329	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accagcgcgtcagccgggctCatccgccacagccgcgggag	14	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:983329C>T	ENST00000361661.2	-	4	1775	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.M466I|IDUA_ENST00000509744.1_3'UTR	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	466					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CAGCCGGGCTCATCCGCCACA	0.697																																																	0													5	7	6					4																	983329		2094	4101	6195	SO:0001583	missense	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1398G>A	4.37:g.983329C>T	ENSP00000354721:p.Met466Ile		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.M466I	ENST00000361661.2	37	c.1398	CCDS33934.1	4	.	.	.	.	.	.	.	.	.	.	C	2.527	-0.309435	0.05458	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.92348	-3.02;-3.02	5.14	0.23	0.15372	Sulphate transporter (1);	0.449907	0.24014	N	0.042344	T	0.73087	0.3542	N	0.01618	-0.8	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.53129	-0.8482	10	0.16896	T;T	0.51;0.51	.	6.0173	0.19611	0.0:0.3307:0.3118:0.3575	.	466	Q9H2B4	S26A1_HUMAN	I	466	ENSP00000354721:M466I;ENSP00000381528:M466I	ENSP00000354721:M466I;ENSP00000354721:M466I	M	-	3	0	SLC26A1	973329	0.004000	0.15560	0.985000	0.45067	0.119000	0.20118	-0.240000	0.08952	-0.448000	0.07128	-0.266000	0.10368	ATG	SLC26A1	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	C	NM_022042, NM_134425		983329	-1	no_errors	ENST00000361661	ensembl	human	known	70_37	missense	SNP	0.799	T	T	983329	C	T	983329	3	4	153	1	0	0	0	0	1	0	0	0	14544	826	29	1	814	1	SLC26A1	4	983329	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	717884	983329	190170947	300	26274										
FGFR3	2261	genome.wustl.edu	37	chr4	1803224	1803224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atctcctggctgaagaacggCagggagttccgcggcgagca	15	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:1803224C>T	ENST00000260795.2	+	4	678	c.576C>T	c.(574-576)ggC>ggT	p.G192G	FGFR3_ENST00000340107.4_Silent_p.G192G|FGFR3_ENST00000440486.2_Silent_p.G192G|FGFR3_ENST00000412135.2_Silent_p.G192G|FGFR3_ENST00000352904.1_Silent_p.G192G|FGFR3_ENST00000481110.2_Silent_p.G192G			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	192	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TGAAGAACGGCAGGGAGTTCC	0.701		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0													8	7	7					4																	1803224		2140	4201	6341	SO:0001819	synonymous_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.576C>T	4.37:g.1803224C>T			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G192	ENST00000260795.2	37	c.576	CCDS3353.1	4																																																																																			FGFR3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like		0.701	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2	C	NM_000142		1803224	1	no_errors	ENST00000340107	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1803224	C	T	1803224	2	4	153	1	0	0	0	0	0	0	0	1	5885	697	25	4		4	FGFR3	4	1803224	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	819895	1803224	189351052	301	26275										
WHSC1	7468	genome.wustl.edu	37	chr4	1902844	1902844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgctgatgtgtctcagtcaGaagaaaatggacaaaaacca	9	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:1902844G>C	ENST00000382895.3	+	4	894	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	WHSC1_ENST00000503128.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000420906.2_Missense_Mutation_p.E155Q|WHSC1_ENST00000398261.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000514045.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000436793.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000382892.2_Missense_Mutation_p.E155Q|WHSC1_ENST00000382891.5_Missense_Mutation_p.E155Q|WHSC1_ENST00000508803.1_Missense_Mutation_p.E155Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	155					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTCTCAGTCAGAAGAAAATGG	0.438			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													65	63	64					4																	1902844		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.463G>C	4.37:g.1902844G>C	ENSP00000372351:p.Glu155Gln		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.E155Q	ENST00000382895.3	37	c.463	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024319	0.75390	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95588	-3.75;1.06;0.76;-3.75;-3.75;0.82;1.06;-3.75;1.05;1.08;1.05	4.94	4.94	0.65067	.	0.107189	0.40818	N	0.001003	D	0.97219	0.9091	M	0.64404	1.975	0.40121	D	0.976605	D;D;D;D;D	0.89917	1.0;0.999;0.983;1.0;1.0	D;D;P;D;D	0.87578	0.998;0.995;0.65;0.998;0.998	D	0.98055	1.0390	10	0.66056	D	0.02	.	18.3639	0.90384	0.0:0.0:1.0:0.0	.	155;155;155;155;155	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	Q	155	ENSP00000423972:E155Q;ENSP00000421681:E155Q;ENSP00000427434:E155Q;ENSP00000372347:E155Q;ENSP00000372348:E155Q;ENSP00000416725:E155Q;ENSP00000399251:E155Q;ENSP00000372351:E155Q;ENSP00000425761:E155Q;ENSP00000422878:E155Q;ENSP00000381311:E155Q	ENSP00000308780:E155Q	E	+	1	0	WHSC1	1872642	1.000000	0.71417	0.715000	0.30552	0.928000	0.56348	7.233000	0.78125	2.553000	0.86117	0.655000	0.94253	GAA	WHSC1	-	NULL		0.438	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1902844	1	no_errors	ENST00000382891	ensembl	human	known	70_37	missense	SNP	0.974	C	C	1902844	G	C	1902844	3	2	153	1	0	0	0	0	1	0	0	0	17393	943	33	1	465	1	WHSC1	4	1902844	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	99620	1902844	189251432	302	26276										
FAM193A	8603	genome.wustl.edu	37	chr4	2691423	2691423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggcactttcttgccagataCaatttctggtaaggaatttg	9	7	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2691423C>T	ENST00000324666.5	+	12	2000	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I	FAM193A_ENST00000382839.3_Missense_Mutation_p.T550I|FAM193A_ENST00000502458.1_Missense_Mutation_p.T572I|FAM193A_ENST00000545951.1_Missense_Mutation_p.T550I|FAM193A_ENST00000505311.1_Missense_Mutation_p.T550I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	550										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGCCAGATACAATTTCTGGT	0.403																																																	0													52	56	54					4																	2691423		2202	4300	6502	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1649C>T	4.37:g.2691423C>T	ENSP00000324587:p.Thr550Ile		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.T550I	ENST00000324666.5	37	c.1649	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012918	0.75161	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.38	5.38	0.77491	.	0.181277	0.51477	D	0.000086	T	0.44456	0.1294	L	0.40543	1.245	0.41628	D	0.989001	D;D;D;D;D	0.76494	0.99;0.999;0.99;0.99;0.971	P;D;P;P;P	0.80764	0.858;0.994;0.858;0.776;0.776	T	0.35968	-0.9767	10	0.66056	D	0.02	-22.3052	18.1813	0.89779	0.0:1.0:0.0:0.0	.	550;572;550;572;550	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	I	550;550;550;572;404	ENSP00000372290:T550I;ENSP00000324587:T550I;ENSP00000443617:T550I;ENSP00000427505:T572I;ENSP00000427260:T404I	ENSP00000324587:T550I	T	+	2	0	FAM193A	2661221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.142000	0.58044	2.532000	0.85374	0.558000	0.71614	ACA	FAM193A	-	NULL		0.403	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2691423	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2691423	C	T	2691423	3	4	153	1	0	0	0	0	1	0	0	0	5539	478	17	4	1687	4	FAM193A	4	2691423	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	788579	2691423	188462853	303	26277										
FAM193A	8603	genome.wustl.edu	37	chr4	2701666	2701666	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacagagtctgttcctaactCtggaaacatccacaatggct	7	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2701666C>A	ENST00000324666.5	+	17	3245	c.2894C>A	c.(2893-2895)tCt>tAt	p.S965Y	FAM193A_ENST00000382839.3_Missense_Mutation_p.S965Y|FAM193A_ENST00000502458.1_Missense_Mutation_p.S987Y|FAM193A_ENST00000545951.1_Missense_Mutation_p.S965Y|FAM193A_ENST00000505311.1_Missense_Mutation_p.S965Y	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	965										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTTCCTAACTCTGGAAACATC	0.488																																																	0													99	100	100					4																	2701666		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2894C>A	4.37:g.2701666C>A	ENSP00000324587:p.Ser965Tyr		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.S965Y	ENST00000324666.5	37	c.2894	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044630	0.75732	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.33865	1.39;1.8;1.4;1.4;1.41	5.69	5.69	0.88448	.	0.456472	0.25329	N	0.031446	T	0.56001	0.1956	L	0.50333	1.59	0.47276	D	0.99937	D;P;D;D;D	0.64830	0.974;0.944;0.969;0.994;0.974	P;P;P;D;P	0.67900	0.804;0.66;0.66;0.954;0.804	T	0.55573	-0.8120	10	0.87932	D	0	-6.6892	18.8075	0.92043	0.0:1.0:0.0:0.0	.	965;987;965;987;965	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	Y	965;965;965;987;819	ENSP00000372290:S965Y;ENSP00000324587:S965Y;ENSP00000443617:S965Y;ENSP00000427505:S987Y;ENSP00000427260:S819Y	ENSP00000324587:S965Y	S	+	2	0	FAM193A	2671464	0.916000	0.31088	0.467000	0.27180	0.470000	0.32858	3.862000	0.56009	2.699000	0.92147	0.650000	0.86243	TCT	FAM193A	-	NULL		0.488	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2701666	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	0.987	A	A	2701666	C	A	2701666	3	1	153	1	0	0	0	0	1	0	0	0	5539	913	32	3	2952	3	FAM193A	4	2701666	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10243	2701666	188452610	304	26278										
ADD1	118	genome.wustl.edu	37	chr4	2886370	2886370	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagatctctttgggtggtctCagcttatctacaatcatatc	7	10	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2886370C>T	ENST00000398129.1	+	3	507	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ADD1_ENST00000398123.2_Nonsense_Mutation_p.Q163*|ADD1_ENST00000264758.7_Nonsense_Mutation_p.Q163*|ADD1_ENST00000513328.2_Nonsense_Mutation_p.Q163*|ADD1_ENST00000398125.1_Nonsense_Mutation_p.Q163*|ADD1_ENST00000355842.3_Nonsense_Mutation_p.Q163*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Q163*|ADD1_ENST00000503455.2_Nonsense_Mutation_p.Q163*			P35611	ADDA_HUMAN	adducin 1 (alpha)	163					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGGTGGTCTCAGCTTATCTA	0.383																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													189	189	189					4																	2886370		2203	4300	6503	SO:0001587	stop_gained	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.487C>T	4.37:g.2886370C>T	ENSP00000381197:p.Gln163*		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Nonsense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Q163*	ENST00000398129.1	37	c.487	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	44	10.906542	0.99486	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	.	.	.	5.33	5.33	0.75918	.	0.055388	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.1645	19.215	0.93772	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000264758:Q163X	Q	+	1	0	ADD1	2856168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	2.777000	0.95525	0.655000	0.94253	CAG	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.383	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2886370	1	no_errors	ENST00000264758	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2886370	C	T	2886370	4	4	153	1	0	0	0	0	0	1	0	0	304	827	29	1	497	1	ADD1	4	2886370	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	184704	2886370	188267906	305	26279										
GRK4	2868	genome.wustl.edu	37	chr4	2990493	2990493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgtgacaagcaaccgatagGaagacgtctcttcaggcagt	11	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2990493G>A	ENST00000398052.4	+	3	531	c.188G>A	c.(187-189)gGa>gAa	p.G63E	GRK4_ENST00000398051.4_Missense_Mutation_p.G31E|GRK4_ENST00000345167.6_Missense_Mutation_p.G31E|GRK4_ENST00000504933.1_Missense_Mutation_p.G63E	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	63	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACCGATAGGAAGACGTCTC	0.428																																																	0													137	136	137					4																	2990493		2203	4300	6503	SO:0001583	missense	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.188G>A	4.37:g.2990493G>A	ENSP00000381129:p.Gly63Glu		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.G63E	ENST00000398052.4	37	c.188	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308621	0.81247	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.03982	3.74;3.74;3.74;3.74	5.56	4.72	0.59763	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	U	0.000000	T	0.25901	0.0631	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.984;1.0;1.0	T	0.05053	-1.0909	10	0.72032	D	0.01	-26.1628	11.9584	0.52995	0.0845:0.0:0.9155:0.0	.	31;31;63;63	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	E	31;63;31;63	ENSP00000381128:G31E;ENSP00000381129:G63E;ENSP00000264764:G31E;ENSP00000427445:G63E	ENSP00000264764:G31E	G	+	2	0	GRK4	2960291	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	8.438000	0.90305	1.334000	0.45468	0.573000	0.79308	GGA	GRK4	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.428	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	G	NM_005307		2990493	1	no_errors	ENST00000398052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2990493	G	A	2990493	3	1	153	1	0	0	0	0	1	0	0	0	6811	1174	41	1	198	1	GRK4	4	2990493	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	104123	2990493	188163783	306	26280										
HGFAC	3083	genome.wustl.edu	37	chr4	3451045	3451045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagctggggtgacggctgcGggcggctccacaagccgggg	19	12	1	1	rs375925462		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:3451045G>A	ENST00000382774.3	+	14	1982	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	HGFAC_ENST00000511533.1_Missense_Mutation_p.G630R	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	623	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGACGGCTGCGGGCGGCTCCA	0.672																																																	0								G	ARG/GLY	0,4406		0,0,2203	45	55	52		1867	4.1	0.9	4		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	HGFAC	NM_001528.2	125	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	623/656	3451045	1,12999	2203	4297	6500	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1867G>A	4.37:g.3451045G>A	ENSP00000372224:p.Gly623Arg		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G623R	ENST00000382774.3	37	c.1867	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810948	0.90707	0.0	1.16E-4	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.94497	-3.44;-3.44	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.132879	0.49916	D	0.000124	D	0.97526	0.9190	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98461	1.0596	10	0.87932	D	0	.	14.927	0.70887	0.0:0.0:1.0:0.0	.	630;623	D6RAR4;Q04756	.;HGFA_HUMAN	R	623;630	ENSP00000372224:G623R;ENSP00000421801:G630R	ENSP00000372224:G623R	G	+	1	0	HGFAC	3420843	0.995000	0.38212	0.945000	0.38365	0.761000	0.43186	2.907000	0.48743	2.080000	0.62538	0.561000	0.74099	GGG	HGFAC	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3451045	1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3451045	G	A	3451045	3	1	153	1	0	0	0	0	1	0	0	0	7106	1116	39	2	1921	2	HGFAC	4	3451045	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	460552	3451045	187703231	307	26281										
EVC	2121	genome.wustl.edu	37	chr4	5758045	5758045	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcagtgtgacctggaggaaGaggagaatgtcagagccacc	15	8	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:5758045G>C	ENST00000264956.6	+	11	1703	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	EVC_ENST00000382674.2_Missense_Mutation_p.E507Q|EVC_ENST00000509451.1_Missense_Mutation_p.E507Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	507					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCTGGAGGAAGAGGAGAATGT	0.562																																																	0													84	76	79					4																	5758045		2203	4300	6503	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1519G>C	4.37:g.5758045G>C	ENSP00000264956:p.Glu507Gln			Missense_Mutation	SNP	NULL	p.E507Q	ENST00000264956.6	37	c.1519	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342866	0.24339	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.58358	0.34;0.34;0.47	5.12	2.34	0.29019	.	0.376195	0.27500	N	0.019091	T	0.46698	0.1406	M	0.61703	1.905	0.22684	N	0.998858	B	0.25563	0.129	B	0.30572	0.117	T	0.35251	-0.9796	10	0.23891	T	0.37	.	8.306	0.32042	0.0839:0.298:0.6181:0.0	.	507	P57679	EVC_HUMAN	Q	507	ENSP00000264956:E507Q;ENSP00000372120:E507Q;ENSP00000426774:E507Q	ENSP00000264956:E507Q	E	+	1	0	EVC	5808946	0.989000	0.36119	0.001000	0.08648	0.008000	0.06430	2.443000	0.44881	0.140000	0.18849	0.650000	0.86243	GAG	EVC	-	NULL		0.562	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	G			5758045	1	no_errors	ENST00000264956	ensembl	human	known	70_37	missense	SNP	0.278	C	C	5758045	G	C	5758045	3	2	153	1	0	0	0	0	1	0	0	0	5297	943	33	1	1561	1	EVC	4	5758045	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2307000	5758045	185396231	308	26282										
JAKMIP1	152789	genome.wustl.edu	37	chr4	6087285	6087285	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcagaagcagcttctgggtCtgcccagcctgcacgccaag	12	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:6087285C>T	ENST00000282924.5	-	4	1181	c.696G>A	c.(694-696)caG>caA	p.Q232Q	JAKMIP1_ENST00000409371.3_Silent_p.Q67Q|JAKMIP1_ENST00000409021.3_Silent_p.Q232Q|JAKMIP1_ENST00000410077.2_Silent_p.Q67Q|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.Q232Q	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	232	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCTGGGTCTGCCCAGCCT	0.542																																																	0													124	124	124					4																	6087285		2203	4300	6503	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.696G>A	4.37:g.6087285C>T			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.Q232	ENST00000282924.5	37	c.696	CCDS3385.1	4																																																																																			JAKMIP1	-	NULL		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	C	NM_144720		6087285	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	silent	SNP	0.999	T	T	6087285	C	T	6087285	2	4	153	1	0	0	0	0	0	0	0	1	7960	912	32	1		1	JAKMIP1	4	6087285	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	329240	6087285	185066991	309	26283										
MAN2B2	23324	genome.wustl.edu	37	chr4	6611729	6611729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagacaacaacggctaccaGatgcagcggaggccctacgt	11	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:6611729G>C	ENST00000285599.3	+	13	2247	c.2211G>C	c.(2209-2211)caG>caC	p.Q737H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q686H|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	737					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACGGCTACCAGATGCAGCGGA	0.592																																																	0													92	86	88					4																	6611729		2203	4300	6503	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2211G>C	4.37:g.6611729G>C	ENSP00000285599:p.Gln737His		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.Q737H	ENST00000285599.3	37	c.2211	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.60|18.60	3.659697|3.659697	0.67586|0.67586	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	D;D|.	0.85702|.	-2.02;-2.02|.	3.98|3.98	3.98|3.98	0.46160|0.46160	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77170|0.77170	0.4091|0.4091	M|M	0.82630|0.82630	2.6|2.6	0.50313|0.50313	D|D	0.999863|0.999863	D;D;P|.	0.76494|.	0.999;0.998;0.581|.	D;D;P|.	0.74348|.	0.977;0.983;0.543|.	T|T	0.80430|0.80430	-0.1386|-0.1386	10|5	0.72032|.	D|.	0.01|.	-28.9082|-28.9082	15.4022|15.4022	0.74849|0.74849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	686;737;737|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|T	737;686|736	ENSP00000285599:Q737H;ENSP00000423129:Q686H|.	ENSP00000285599:Q737H|.	Q|R	+|+	3|2	2|0	MAN2B2|MAN2B2	6662630|6662630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.401000|3.401000	0.52601|0.52601	1.930000|1.930000	0.55929|0.55929	0.558000|0.558000	0.71614|0.71614	CAG|AGA	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.592	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	G	NM_015274		6611729	1	no_errors	ENST00000285599	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6611729	G	C	6611729	3	2	153	1	0	0	0	0	1	0	0	0	9240	933	33	1	2261	1	MAN2B2	4	6611729	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	524444	6611729	184542547	310	26284										
TBC1D14	57533	genome.wustl.edu	37	chr4	6925609	6925609	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgtgtccagtcttgggacaGagctgtccaccacgctgtcc	12	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:6925609G>A	ENST00000409757.4	+	2	617	c.493G>A	c.(493-495)Gag>Aag	p.E165K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E165K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	165					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCTTGGGACAGAGCTGTCCAC	0.577																																																	0													101	82	89					4																	6925609		2203	4300	6503	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.493G>A	4.37:g.6925609G>A	ENSP00000386921:p.Glu165Lys		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E165K	ENST00000409757.4	37	c.493	CCDS3394.2	4	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457048	0.84317	.	.	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.08282	3.11;3.11	4.73	4.73	0.59995	.	0.063888	0.64402	D	0.000011	T	0.09202	0.0227	L	0.34521	1.04	0.80722	D	1	P	0.52463	0.953	B	0.43194	0.411	T	0.28106	-1.0054	9	.	.	.	-28.3138	16.8721	0.86042	0.0:0.0:1.0:0.0	.	165	Q9P2M4	TBC14_HUMAN	K	165	ENSP00000404041:E165K;ENSP00000386921:E165K	.	E	+	1	0	TBC1D14	6976510	1.000000	0.71417	0.990000	0.47175	0.777000	0.43975	8.256000	0.89848	2.467000	0.83353	0.585000	0.79938	GAG	TBC1D14	-	NULL		0.577	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	G	NM_020773		6925609	1	no_errors	ENST00000409757	ensembl	human	known	70_37	missense	SNP	0.999	A	A	6925609	G	A	6925609	3	1	153	1	0	0	0	0	1	0	0	0	15633	943	33	1	495	1	TBC1D14	4	6925609	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	313880	6925609	184228667	311	26285										
CCDC96	257236	genome.wustl.edu	37	chr4	7043586	7043586	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttatcctccaacgcctggatCtgctccacctctcgcagagc	7	17	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:7043586C>T	ENST00000310085.4	-	1	1142	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	360										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						ACGCCTGGATCTGCTCCACCT	0.597																																																	0													68	80	76					4																	7043586		2203	4300	6503	SO:0001819	synonymous_variant	257236			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1080G>A	4.37:g.7043586C>T			Q8N2I7	Silent	SNP	NULL	p.Q360	ENST00000310085.4	37	c.1080	CCDS3395.1	4																																																																																			CCDC96	-	NULL		0.597	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC96	HGNC	protein_coding	OTTHUMT00000246838.1	C	NM_153376		7043586	-1	no_errors	ENST00000310085	ensembl	human	known	70_37	silent	SNP	0.996	T	T	7043586	C	T	7043586	2	4	153	1	0	0	0	0	0	0	0	1	2879	912	32	1		1	CCDC96	4	7043586	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	117977	7043586	184110690	312	26286										
TADA2B	93624	genome.wustl.edu	37	chr4	7045552	7045552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagctgctgctggacgccatCgagcagttcggcttcggaaa	13	12	0	0	rs560212756		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:7045552C>G	ENST00000310074.7	+	1	435	c.246C>G	c.(244-246)atC>atG	p.I82M	TADA2B_ENST00000512388.1_Intron|RP11-367J11.2_ENST00000500031.1_RNA|CCDC96_ENST00000310085.4_5'Flank	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	82	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						TGGACGCCATCGAGCAGTTCG	0.726																																																	0													10	13	12					4																	7045552		1912	4072	5984	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.246C>G	4.37:g.7045552C>G	ENSP00000308022:p.Ile82Met		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.I82M	ENST00000310074.7	37	c.246	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592262	0.66219	.	.	ENSG00000173011	ENST00000310074	T	0.47528	0.84	2.6	2.6	0.31112	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	U	0.000000	T	0.67646	0.2915	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.74067	-0.3784	10	0.66056	D	0.02	-22.5324	12.1304	0.53940	0.0:1.0:0.0:0.0	.	82	Q86TJ2	TAD2B_HUMAN	M	82	ENSP00000308022:I82M	ENSP00000308022:I82M	I	+	3	3	TADA2B	7096453	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.387000	0.52501	1.446000	0.47643	0.484000	0.47621	ATC	TADA2B	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom		0.726	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	C	NM_152293		7045552	1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7045552	C	G	7045552	3	3	153	1	0	0	0	0	1	0	0	0	15541	874	31	1	248	1	TADA2B	4	7045552	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1966	7045552	184108724	313	26287										
SORCS2	57537	genome.wustl.edu	37	chr4	7705979	7705979	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgtttgtggacgggctgctGagtgagccaggggacgagac	19	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:7705979G>C	ENST00000507866.2	+	14	1945	c.1836G>C	c.(1834-1836)ctG>ctC	p.L612L	SORCS2_ENST00000329016.9_Silent_p.L440L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	612					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGGGCTGCTGAGTGAGCCAG	0.647																																																	0													49	56	54					4																	7705979		2138	4240	6378	SO:0001819	synonymous_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1836G>C	4.37:g.7705979G>C			Q9P2L7	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.L612	ENST00000507866.2	37	c.1836	CCDS47008.1	4																																																																																			SORCS2	-	smart_VPS10		0.647	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	G	NM_020777		7705979	1	no_errors	ENST00000507866	ensembl	human	known	70_37	silent	SNP	0.997	C	C	7705979	G	C	7705979	2	2	153	1	0	0	0	0	0	0	0	1	14961	1277	45	1		1	SORCS2	4	7705979	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	660427	7705979	183448297	314	26288										
RAB28	9364	genome.wustl.edu	37	chr4	13462410	13462410	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataccaatcttctaaattctCaaagctttgataatttgtaa	3	7	3	1	rs554015222	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:13462410C>G	ENST00000330852.5	-	4	518	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RAB28_ENST00000288723.4_Missense_Mutation_p.E102Q|RAB28_ENST00000338176.4_Missense_Mutation_p.E102Q	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	102					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TCTAAATTCTCAAAGCTTTGA	0.338																																																	0													87	87	87					4																	13462410		2203	4300	6503	SO:0001583	missense	9364			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.304G>C	4.37:g.13462410C>G	ENSP00000328551:p.Glu102Gln		G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E102Q	ENST00000330852.5	37	c.304	CCDS33961.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.40|18.40|18.40	3.615640|3.615640|3.615640	0.66672|0.66672|0.66672	.|.|.	.|.|.	ENSG00000157869|ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000510528|ENST00000511649	T;T;T|.|.	0.78003|.|.	-1.14;-1.14;-1.14|.|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	Small GTP-binding protein domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60534|0.60534|.	0.2276|0.2276|.	L|L|L	0.31526|0.31526|0.31526	0.94|0.94|0.94	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B|.|.	0.33198|.|.	0.156;0.401|.|.	B;B|.|.	0.26310|.|.	0.06;0.068|.|.	T|T|.	0.51639|0.51639|.	-0.8680|-0.8680|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	20.5211|20.5211|20.5211	0.99222|0.99222|0.99222	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	102;102|.|.	P51157;P51157-2|.|.	RAB28_HUMAN;.|.|.	Q|F|S	102|16|24	ENSP00000328551:E102Q;ENSP00000288723:E102Q;ENSP00000340079:E102Q|.|.	ENSP00000288723:E102Q|.|.	E|L|X	-|-|-	1|3|2	0|2|2	RAB28|RAB28|RAB28	13071508|13071508|13071508	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.346000|7.346000|7.346000	0.79347|0.79347|0.79347	2.861000|2.861000|2.861000	0.98227|0.98227|0.98227	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|TTG|TGA	RAB28	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.338	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB28	HGNC	protein_coding	OTTHUMT00000207068.2	C	NM_001017979		13462410	-1	no_errors	ENST00000330852	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13462410	C	G	13462410	3	3	153	1	0	0	0	0	1	0	0	0	12946	835	29	1	517	1	RAB28	4	13462410	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5756431	13462410	177691866	315	26289										
C1QTNF7	114905	genome.wustl.edu	37	chr4	15443963	15443963	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggggacccggggctgcctgGagtttgcagatgtggaagca	18	8	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:15443963G>C	ENST00000444304.2	+	3	736	c.410G>C	c.(409-411)gGa>gCa	p.G137A	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.G144A|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G137A			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	137	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGGCTGCCTGGAGTTTGCAGA	0.512																																																	0													176	183	181					4																	15443963		2203	4300	6503	SO:0001583	missense	114905			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.410G>C	4.37:g.15443963G>C	ENSP00000388914:p.Gly137Ala		B2RBT3|J3KPW3	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G137A	ENST00000444304.2	37	c.410	CCDS3414.1	4	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690928	0.88735	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000429690;ENST00000444304	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97884	1.0293	10	0.59425	D	0.04	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	137	Q9BXJ2	C1QT7_HUMAN	A	144;144;137;137	ENSP00000380812:G144A;ENSP00000295297:G144A;ENSP00000410722:G137A;ENSP00000388914:G137A	ENSP00000295297:G144A	G	+	2	0	C1QTNF7	15053061	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.830000	0.99415	2.619000	0.88677	0.655000	0.94253	GGA	C1QTNF7	-	pfam_Collagen		0.512	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1QTNF7	HGNC	protein_coding	OTTHUMT00000250891.2	G			15443963	1	no_errors	ENST00000429690	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15443963	G	C	15443963	3	2	153	1	0	0	0	0	1	0	0	0	1973	1174	41	1	441	1	C1QTNF7	4	15443963	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1981553	15443963	175710313	316	26290										
SLIT2	9353	genome.wustl.edu	37	chr4	20270444	20270444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctcaaaaggcgtttaaacaGaaatcaccttcagctgtttc	6	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:20270444G>A	ENST00000504154.1	+	4	587	c.335G>A	c.(334-336)aGa>aAa	p.R112K	SLIT2_ENST00000273739.5_Missense_Mutation_p.R112K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R112K|SLIT2_ENST00000503837.1_Missense_Mutation_p.R112K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	112					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTTTAAACAGAAATCACCTT	0.388																																																	0													130	124	126					4																	20270444		2203	4299	6502	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.335G>A	4.37:g.20270444G>A	ENSP00000422591:p.Arg112Lys		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R112K	ENST00000504154.1	37	c.335	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417700	0.42918	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.94	3.89	0.44902	.	0.100159	0.64402	N	0.000003	T	0.38639	0.1048	N	0.20574	0.59	0.43187	D	0.995017	B;B	0.23591	0.073;0.088	B;B	0.27076	0.076;0.067	T	0.19778	-1.0295	10	0.30078	T	0.28	.	14.0431	0.64689	0.1438:0.0:0.8562:0.0	.	112;112	O94813-3;O94813	.;SLIT2_HUMAN	K	112;112;112;112;112;73	ENSP00000427548:R112K;ENSP00000422591:R112K;ENSP00000273739:R112K;ENSP00000422261:R112K;ENSP00000426356:R73K	ENSP00000273739:R112K	R	+	2	0	SLIT2	19879542	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.666000	0.46799	1.495000	0.48549	0.643000	0.83706	AGA	SLIT2	-	smart_Leu-rich_rpt_typical-subtyp		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	G			20270444	1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20270444	G	A	20270444	3	1	153	1	0	0	0	0	1	0	0	0	14770	942	33	1	349	1	SLIT2	4	20270444	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4826481	20270444	170883832	317	26291										
DHX15	1665	genome.wustl.edu	37	chr4	24585975	24585975	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccgcacgcttcttgccagaGgggtaatcctcccctaggtc	10	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:24585975G>C	ENST00000336812.4	-	1	198	c.42C>G	c.(40-42)ccC>ccG	p.P14P		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.P14P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCTTGCCAGAGGGGTAATCCT	0.652																																																	1	Substitution - coding silent(1)	lung(1)											37	35	36					4																	24585975		2203	4300	6503	SO:0001819	synonymous_variant	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.42C>G	4.37:g.24585975G>C			Q9NQT7	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P14	ENST00000336812.4	37	c.42	CCDS33966.1	4																																																																																			DHX15	-	NULL		0.652	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	G	NM_001358		24585975	-1	no_errors	ENST00000336812	ensembl	human	known	70_37	silent	SNP	1.000	C	C	24585975	G	C	24585975	2	2	153	1	0	0	0	0	0	0	0	1	4511	987	35	4		4	DHX15	4	24585975	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4315531	24585975	166568301	318	26292										
N4BP2	55728	genome.wustl.edu	37	chr4	40122816	40122816	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgctcttttatggaaaataGaaaagaataaaattagcatt	6	3	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:40122816G>C	ENST00000261435.6	+	9	3501	c.3085G>C	c.(3085-3087)Gaa>Caa	p.E1029Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1029					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATGGAAAATAGAAAAGAATAA	0.353																																																	0													39	42	41					4																	40122816		2202	4299	6501	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3085G>C	4.37:g.40122816G>C	ENSP00000261435:p.Glu1029Gln		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.E1029Q	ENST00000261435.6	37	c.3085	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.563302|3.563302	0.65538|0.65538	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.23147|.	1.92|.	6.04|6.04	5.2|5.2	0.72013|0.72013	.|.	0.318283|.	0.32884|.	N|.	0.005530|.	T|T	0.66366|0.66366	0.2782|0.2782	M|M	0.61703|0.61703	1.905|1.905	0.33454|0.33454	D|D	0.58401|0.58401	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.75484|.	0.986;0.968|.	T|T	0.75147|0.75147	-0.3420|-0.3420	10|5	0.72032|.	D|.	0.01|.	-14.6539|-14.6539	15.0869|15.0869	0.72162|0.72162	0.0673:0.0:0.9327:0.0|0.0673:0.0:0.9327:0.0	.|.	1029;1029|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Q|T	1029;949|675	ENSP00000261435:E1029Q|.	ENSP00000261435:E1029Q|.	E|R	+|+	1|2	0|0	N4BP2|N4BP2	39799211|39799211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.105000|5.105000	0.64591|0.64591	1.571000|1.571000	0.49722|0.49722	0.563000|0.563000	0.77884|0.77884	GAA|AGA	N4BP2	-	NULL		0.353	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	G	NM_018177		40122816	1	no_errors	ENST00000261435	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40122816	G	C	40122816	3	2	153	1	0	0	0	0	1	0	0	0	10133	943	33	1	3111	1	N4BP2	4	40122816	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	15536841	40122816	151031460	319	26293										
GABRA2	2555	genome.wustl.edu	37	chr4	46263983	46263983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccatcccaagcccatcctCttttggtgaagtaattaaca	5	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:46263983C>G	ENST00000510861.1	-	9	1192	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	GABRA2_ENST00000515082.1_Missense_Mutation_p.R340T|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340T|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285T|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340T|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340T|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCCATCCTCTTTTGGTGAA	0.393																																																	0													115	108	110					4																	46263983		2203	4300	6503	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1019G>C	4.37:g.46263983C>G	ENSP00000421828:p.Arg340Thr		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R285T	ENST00000510861.1	37	c.854	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878645	0.91740	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;T;D	0.86562	-2.14;-2.14;-2.14;-2.14;-1.86;-0.89;-1.86	5.44	5.44	0.79542	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.998;0.986;1.0	D;D;D	0.91635	0.988;0.913;0.999	D	0.93055	0.6469	10	0.66056	D	0.02	.	18.609	0.91277	0.0:1.0:0.0:0.0	.	285;340;340	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	340;340;340;340;285;340;340	ENSP00000421828:R340T;ENSP00000421300:R340T;ENSP00000371033:R340T;ENSP00000348897:R340T;ENSP00000444409:R285T;ENSP00000427603:R340T;ENSP00000423840:R340T	ENSP00000348897:R340T	R	-	2	0	GABRA2	45958740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.949000	0.70257	2.723000	0.93209	0.655000	0.94253	AGA	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	C			46263983	-1	no_errors	ENST00000540012	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46263983	C	G	46263983	3	3	153	1	0	0	0	0	1	0	0	0	6179	913	32	1	344	1	GABRA2	4	46263983	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6141167	46263983	144890293	320	26294										
ATP10D	57205	genome.wustl.edu	37	chr4	47538781	47538781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttcattcaaagtgatgtgGatttctacaatgaaaaaatg	7	4	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:47538781G>A	ENST00000273859.3	+	9	1491	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	ATP10D_ENST00000504445.1_Missense_Mutation_p.D393N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	408					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGTGATGTGGATTTCTACAA	0.388																																																	0													59	60	60					4																	47538781		2203	4298	6501	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1222G>A	4.37:g.47538781G>A	ENSP00000273859:p.Asp408Asn		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D408N	ENST00000273859.3	37	c.1222	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868009	0.91587	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.71934	-0.61;-0.61	5.38	5.38	0.77491	.	0.116288	0.56097	D	0.000028	T	0.73179	0.3554	M	0.69463	2.115	0.50813	D	0.999898	B;B	0.25904	0.137;0.082	B;B	0.31245	0.094;0.126	T	0.73375	-0.4002	10	0.87932	D	0	-16.3223	18.1203	0.89569	0.0:0.0:1.0:0.0	.	408;393	Q9P241;Q6PEW3	AT10D_HUMAN;.	N	408;393	ENSP00000273859:D408N;ENSP00000420909:D393N	ENSP00000273859:D408N	D	+	1	0	ATP10D	47233538	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.737000	0.68606	2.535000	0.85469	0.650000	0.86243	GAT	ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transl		0.388	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	G	NM_020453		47538781	1	no_errors	ENST00000273859	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47538781	G	A	47538781	3	1	153	1	0	0	0	0	1	0	0	0	1119	1174	41	1	1252	1	ATP10D	4	47538781	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1274798	47538781	143615495	321	26295										
NIPAL1	152519	genome.wustl.edu	37	chr4	48036978	48036978	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catattaagtatattggggtCaactgtgatggttatccatg	10	5	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:48036978C>T	ENST00000295461.5	+	5	608	c.542C>T	c.(541-543)tCa>tTa	p.S181L	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	181						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ATATTGGGGTCAACTGTGATG	0.383																																																	0													93	89	90					4																	48036978		2203	4300	6503	SO:0001583	missense	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.542C>T	4.37:g.48036978C>T	ENSP00000295461:p.Ser181Leu		B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.S181L	ENST00000295461.5	37	c.542	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.457941	0.96240	.	.	ENSG00000163293	ENST00000295461	T	0.66280	-0.2	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87075	0.6087	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90888	0.4759	10	0.87932	D	0	-11.6119	19.7763	0.96395	0.0:1.0:0.0:0.0	.	181	Q6NVV3	NIPA3_HUMAN	L	181	ENSP00000295461:S181L	ENSP00000295461:S181L	S	+	2	0	NIPAL1	47731735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.707000	0.84623	2.740000	0.93945	0.555000	0.69702	TCA	NIPAL1	-	pfam_Mg_trans_NIPA,pfam_DMT		0.383	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	C	NM_207330		48036978	1	no_errors	ENST00000295461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48036978	C	T	48036978	3	4	153	1	0	0	0	0	1	0	0	0	10448	838	29	1	560	1	NIPAL1	4	48036978	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	498197	48036978	143117298	322	26296										
AASDH	132949	genome.wustl.edu	37	chr4	57237772	57237772	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaaggtcagaggtgaagccaGaaacaaaacatcttcttgtg	11	7	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:57237772G>C	ENST00000205214.6	-	5	886	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	AASDH_ENST00000513376.1_Missense_Mutation_p.L136V|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.L236V|AASDH_ENST00000602986.1_Missense_Mutation_p.L83V|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.L236V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	236					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGTGAAGCCAGAAACAAAACA	0.398																																																	0													115	92	100					4																	57237772		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.706C>G	4.37:g.57237772G>C	ENSP00000205214:p.Leu236Val		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.L236V	ENST00000205214.6	37	c.706	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	g	17.57	3.421961	0.62622	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.37	4.44	0.53790	AMP-dependent synthetase/ligase (1);	0.133240	0.51477	D	0.000087	T	0.49949	0.1587	L	0.48986	1.54	0.42111	D	0.991381	P;P;P;D	0.54047	0.824;0.693;0.633;0.964	P;B;B;P	0.61070	0.474;0.373;0.276;0.883	T	0.44298	-0.9337	10	0.40728	T	0.16	-6.4414	8.0479	0.30559	0.0893:0.0:0.6847:0.226	.	83;236;236;236	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	V	236;136;236;83;236	ENSP00000205214:L236V;ENSP00000423760:L136V;ENSP00000409656:L236V;ENSP00000421171:L236V	ENSP00000205214:L236V	L	-	1	2	AASDH	56932529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.774000	0.26675	2.527000	0.85204	0.645000	0.84053	CTG	AASDH	-	pfam_AMP-dep_Synth/Lig		0.398	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	G	NM_181806		57237772	-1	no_errors	ENST00000205214	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57237772	G	C	57237772	3	2	153	1	0	0	0	0	1	0	0	0	22	933	33	1	2634	1	AASDH	4	57237772	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	9200794	57237772	133916504	323	26297										
LPHN3	23284	genome.wustl.edu	37	chr4	62452984	62452984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccaatggctgtggtccgcaGagagctatcctgtgagagct	13	10	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:62452984G>C	ENST00000514591.1	+	4	424	c.95G>C	c.(94-96)aGa>aCa	p.R32T	LPHN3_ENST00000514157.1_Missense_Mutation_p.R32T|LPHN3_ENST00000507625.1_Missense_Mutation_p.R100T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R32T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R32T|LPHN3_ENST00000512091.2_Missense_Mutation_p.R32T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R100T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R32T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R100T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R32T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R32T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R100T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R100T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R100T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R100T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	32					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGTCCGCAGAGAGCTATCC	0.458																																																	0													49	52	51					4																	62452984		1914	4121	6035	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.95G>C	4.37:g.62452984G>C	ENSP00000422533:p.Arg32Thr		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R100T	ENST00000514591.1	37	c.299	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806979	0.90623	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70986	-0.5;-0.49;-0.5;-0.5;-0.5;-0.49;-0.5;-0.5;-0.48;-0.5;-0.5;-0.53;-0.53;-0.53;-0.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	L	0.29908	0.895	0.51012	D	0.999908	P;P;D	0.55385	0.951;0.916;0.971	D;D;D	0.76071	0.971;0.928;0.987	T	0.74191	-0.3745	10	0.32370	T	0.25	.	19.0468	0.93022	0.0:0.0:1.0:0.0	.	32;100;32	E9PE04;E7EN28;Q9HAR2-2	.;.;.	T	32;32;100;100;32;32;32;32;32;100;100;100;32;32;32;100;100;32	ENSP00000423388:R32T;ENSP00000422533:R32T;ENSP00000423787:R100T;ENSP00000425033:R100T;ENSP00000424120:R32T;ENSP00000439831:R32T;ENSP00000421476:R100T;ENSP00000424030:R100T;ENSP00000421372:R100T;ENSP00000425201:R32T;ENSP00000423434:R32T;ENSP00000421627:R32T;ENSP00000420931:R100T;ENSP00000425884:R100T;ENSP00000424258:R32T	ENSP00000280009:R32T	R	+	2	0	LPHN3	62135579	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.608000	0.98331	2.741000	0.93983	0.650000	0.86243	AGA	LPHN3	-	NULL		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62452984	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62452984	G	C	62452984	3	2	153	1	0	0	0	0	1	0	0	0	8940	942	33	1	101	1	LPHN3	4	62452984	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5215212	62452984	128701292	324	26298										
LPHN3	23284	genome.wustl.edu	37	chr4	62812737	62812737	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctttgtccacaaatcattCtgttattgtcaattcccctg	5	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:62812737C>A	ENST00000514591.1	+	15	2650	c.2321C>A	c.(2320-2322)tCt>tAt	p.S774Y	LPHN3_ENST00000514157.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.S774Y|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.S842Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	761					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAAATCATTCTGTTATTGTC	0.393																																																	0													221	206	211					4																	62812737		1889	4113	6002	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2321C>A	4.37:g.62812737C>A	ENSP00000422533:p.Ser774Tyr		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.S842Y	ENST00000514591.1	37	c.2525	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855357|4.855357	0.91355|0.91355	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10382	.|2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Domain of unknown function DUF3497 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32645|0.32645	0.0836|0.0836	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.998;0.996	T|T	0.01323|0.01323	-1.1385|-1.1385	5|10	.|0.87932	.|D	.|0	.|.	19.4278|19.4278	0.94751|0.94751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|774;761;774	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	L|Y	231|774;774;842;842;774;774;761;774;842;842;842;774;774;774;842;842;774	.|ENSP00000423388:S774Y;ENSP00000422533:S774Y;ENSP00000423787:S842Y;ENSP00000425033:S842Y;ENSP00000424120:S774Y;ENSP00000439831:S774Y;ENSP00000421476:S842Y;ENSP00000424030:S842Y;ENSP00000421372:S842Y;ENSP00000425201:S774Y;ENSP00000423434:S774Y;ENSP00000421627:S774Y;ENSP00000420931:S842Y;ENSP00000425884:S842Y;ENSP00000424258:S774Y	.|ENSP00000280009:S774Y	F|S	+|+	3|2	2|0	LPHN3|LPHN3	62495332|62495332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	TTC|TCT	LPHN3	-	pfam_DUF3497		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	C			62812737	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62812737	C	A	62812737	3	1	153	1	0	0	0	0	1	0	0	0	8940	913	32	3	2371	3	LPHN3	4	62812737	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	359753	62812737	128341539	325	26299										
PRKG2	5593	genome.wustl.edu	37	chr4	82125986	82125986	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctggatgcacttgttctgGagctcctctgtgagttcagc	12	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:82125986G>C	ENST00000395578.1	-	2	332	c.216C>G	c.(214-216)ctC>ctG	p.L72L	PRKG2_ENST00000264399.1_Silent_p.L72L|PRKG2_ENST00000418486.2_Silent_p.L72L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	72					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACTTGTTCTGGAGCTCCTCTG	0.562																																																	0													117	116	116					4																	82125986		2203	4300	6503	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.216C>G	4.37:g.82125986G>C			B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L72	ENST00000395578.1	37	c.216	CCDS3589.1	4																																																																																			PRKG2	-	pirsf_cGMP-dependent_protein_kinase		0.562	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	G	NM_006259		82125986	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	silent	SNP	0.506	C	C	82125986	G	C	82125986	2	2	153	1	0	0	0	0	0	0	0	1	12550	1161	41	1		1	PRKG2	4	82125986	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	19313249	82125986	109028290	326	26300										
SEC31A	22872	genome.wustl.edu	37	chr4	83774807	83774807	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccctgcacaaatatagcaGagacatgcttgagtctgcag	9	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:83774807G>A	ENST00000395310.2	-	18	2252	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	SEC31A_ENST00000505472.1_Silent_p.L690L|SEC31A_ENST00000348405.4_Silent_p.L651L|SEC31A_ENST00000508479.1_Silent_p.L690L|SEC31A_ENST00000355196.2_Silent_p.L690L|SEC31A_ENST00000448323.1_Silent_p.L690L|SEC31A_ENST00000432794.1_Silent_p.L690L|SEC31A_ENST00000513858.1_Silent_p.L651L|SEC31A_ENST00000509142.1_Silent_p.L690L|SEC31A_ENST00000443462.2_Silent_p.L685L|SEC31A_ENST00000500777.2_Silent_p.L651L|SEC31A_ENST00000311785.7_Silent_p.L690L|SEC31A_ENST00000326950.5_Silent_p.L651L|SEC31A_ENST00000264405.5_Silent_p.L423L|SEC31A_ENST00000508502.1_Silent_p.L690L|SEC31A_ENST00000505984.1_Silent_p.L651L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	690					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAATATAGCAGAGACATGCTT	0.398																																																	0													113	110	111					4																	83774807		2203	4300	6503	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2070C>T	4.37:g.83774807G>A			B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L690	ENST00000395310.2	37	c.2070	CCDS3596.1	4																																																																																			SEC31A	-	NULL		0.398	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83774807	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	silent	SNP	1.000	A	A	83774807	G	A	83774807	2	1	153	1	0	0	0	0	0	0	0	1	14028	929	33	1		1	SEC31A	4	83774807	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1648821	83774807	107379469	327	26301										
HELQ	113510	genome.wustl.edu	37	chr4	84358067	84358067	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgtgcaggtaaaaagacaGagcactcctgtggagtaggc	14	7	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:84358067G>A	ENST00000295488.3	-	9	2154	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	HELQ_ENST00000510985.1_Silent_p.L597L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	664	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAAAAAGACAGAGCACTCCTG	0.468								Other identified genes with known or suspected DNA repair function																																									0													104	97	99					4																	84358067		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1992C>T	4.37:g.84358067G>A			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L664	ENST00000295488.3	37	c.1992	CCDS3603.1	4																																																																																			HELQ	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.468	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	G	NM_133636		84358067	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	silent	SNP	1.000	A	A	84358067	G	A	84358067	2	1	153	1	0	0	0	0	0	0	0	1	7067	929	33	1		1	HELQ	4	84358067	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	583260	84358067	106796209	328	26302										
WDFY3	23001	genome.wustl.edu	37	chr4	85614120	85614120	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtagatcctggtaggacagaGattcctgcattgtctccatt	10	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:85614120G>C	ENST00000295888.4	-	59	9374	c.8967C>G	c.(8965-8967)atC>atG	p.I2989M	WDFY3_ENST00000322366.6_Missense_Mutation_p.I2972M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2989	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAGGACAGAGATTCCTGCAT	0.368																																																	0													127	123	124					4																	85614120		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8967C>G	4.37:g.85614120G>C	ENSP00000295888:p.Ile2989Met		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I2989M	ENST00000295888.4	37	c.8967	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701651	0.15172	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.65549	-0.16;-0.15;-0.08	5.22	2.55	0.30701	.	1.022390	0.07764	N	0.950543	T	0.36635	0.0974	N	0.04508	-0.205	0.21861	N	0.999504	B	0.02656	0.0	B	0.04013	0.001	T	0.23691	-1.0181	10	0.22706	T	0.39	.	5.7243	0.18004	0.2239:0.2869:0.4892:0.0	.	2989	Q8IZQ1	WDFY3_HUMAN	M	2972;2989;592	ENSP00000318466:I2972M;ENSP00000295888:I2989M;ENSP00000424987:I592M	ENSP00000295888:I2989M	I	-	3	3	WDFY3	85833144	0.712000	0.27916	0.008000	0.14137	0.958000	0.62258	0.401000	0.20948	0.210000	0.20664	-0.143000	0.13931	ATC	WDFY3	-	NULL		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85614120	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	0.398	C	C	85614120	G	C	85614120	3	2	153	1	0	0	0	0	1	0	0	0	17301	932	33	1	1653	1	WDFY3	4	85614120	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1256053	85614120	105540156	329	26303										
GPRIN3	285513	genome.wustl.edu	37	chr4	90170537	90170537	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttgttctctgaacatccaGattctctagttagaggttta	8	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:90170537G>C	ENST00000609438.1	-	2	1243	c.725C>G	c.(724-726)tCt>tGt	p.S242C	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S242C	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	242										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGAACATCCAGATTCTCTAGT	0.542																																																	0													50	56	54					4																	90170537		2203	4300	6503	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.725C>G	4.37:g.90170537G>C	ENSP00000476603:p.Ser242Cys		Q8IVE4	Missense_Mutation	SNP	NULL	p.S242C	ENST00000609438.1	37	c.725	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320389	0.23994	.	.	ENSG00000185477	ENST00000333209	T	0.10477	2.87	4.37	-8.32	0.00996	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	9	0.56958	D	0.05	4.8852	1.3763	0.02221	0.2996:0.2889:0.27:0.1414	.	242	Q6ZVF9	GRIN3_HUMAN	C	242	ENSP00000328672:S242C	ENSP00000328672:S242C	S	-	2	0	GPRIN3	90389560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.445000	0.06845	-1.656000	0.01495	-2.140000	0.00339	TCT	GPRIN3	-	NULL		0.542	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	G	NM_198281		90170537	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	missense	SNP	0.000	C	C	90170537	G	C	90170537	3	2	153	1	0	0	0	0	1	0	0	0	6751	942	33	1	1609	1	GPRIN3	4	90170537	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4556417	90170537	100983739	330	26304										
EMCN	51705	genome.wustl.edu	37	chr4	101344472	101344472	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcacacagatatcataccttGagactgtgaggtgttttctg	10	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:101344472G>A	ENST00000296420.4	-	6	683	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Nonsense_Mutation_p.Q156*	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	169						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		ATCATACCTTGAGACTGTGAG	0.413																																																	0													195	174	181					4																	101344472		2203	4300	6503	SO:0001587	stop_gained	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.505C>T	4.37:g.101344472G>A	ENSP00000296420:p.Gln169*		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Nonsense_Mutation	SNP	pfam_Endomucin	p.Q169*	ENST00000296420.4	37	c.505	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959480	0.53400	.	.	ENSG00000164035	ENST00000296420;ENST00000511970	.	.	.	3.5	2.63	0.31362	.	0.766523	0.10667	N	0.648032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	8.8808	0.35374	0.0:0.2292:0.7708:0.0	.	.	.	.	X	169;156	.	ENSP00000296420:Q169X	Q	-	1	0	EMCN	101563495	0.989000	0.36119	0.510000	0.27712	0.177000	0.22998	2.004000	0.40854	1.047000	0.40274	0.479000	0.44913	CAA	EMCN	-	pfam_Endomucin		0.413	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	HGNC	protein_coding	OTTHUMT00000253699.2	G	NM_016242		101344472	-1	no_errors	ENST00000296420	ensembl	human	known	70_37	nonsense	SNP	0.547	A	A	101344472	G	A	101344472	4	1	153	1	0	0	0	0	0	1	0	0	5098	1299	45	1	304	1	EMCN	4	101344472	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	11173935	101344472	89809804	331	26305										
PPP3CA	5530	genome.wustl.edu	37	chr4	102014971	102014971	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccctgactgtgttgtgagtGaaatgttcctgagtcttctc	10	10	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:102014971G>A	ENST00000394854.3	-	6	1427	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PPP3CA_ENST00000323055.6_Silent_p.F248F|PPP3CA_ENST00000510292.1_5'Flank|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000394853.4_Silent_p.F248F|PPP3CA_ENST00000523694.2_Silent_p.F181F|PPP3CA_ENST00000507176.1_Silent_p.F150F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	248	Calcineurin B binding-site 1. {ECO:0000255}.|Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGTTGTGAGTGAAATGTTCCT	0.433																																																	0													157	149	152					4																	102014971		2203	4300	6503	SO:0001819	synonymous_variant	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.744C>T	4.37:g.102014971G>A			A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.F248	ENST00000394854.3	37	c.744	CCDS34037.1	4																																																																																			PPP3CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.433	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	G	NM_000944		102014971	-1	no_errors	ENST00000394854	ensembl	human	known	70_37	silent	SNP	1.000	A	A	102014971	G	A	102014971	2	1	153	1	0	0	0	0	0	0	0	1	12424	1281	45	1		1	PPP3CA	4	102014971	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	670499	102014971	89139305	332	26306										
ALPK1	80216	genome.wustl.edu	37	chr4	113356438	113356438	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgggttcatcatcttcatCaagaagaaattctggggagg	11	6	6	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:113356438C>G	ENST00000458497.1	+	12	3448	c.3169C>G	c.(3169-3171)Caa>Gaa	p.Q1057E	ALPK1_ENST00000504176.2_Missense_Mutation_p.Q979E|ALPK1_ENST00000177648.9_Missense_Mutation_p.Q1057E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1057	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCATCTTCATCAAGAAGAAAT	0.378																																																	0													125	145	138					4																	113356438		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3169C>G	4.37:g.113356438C>G	ENSP00000398048:p.Gln1057Glu		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q1057E	ENST00000458497.1	37	c.3169	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621586	0.87460	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.05717	3.4;3.4;3.4	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	M	0.64997	1.995	0.47214	D	0.999356	D;D;D	0.69078	0.995;0.997;0.996	P;D;P	0.64877	0.847;0.93;0.875	T	0.00009	-1.2459	10	0.56958	D	0.05	-17.7981	20.3594	0.98849	0.0:1.0:0.0:0.0	.	979;979;1057	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	1057;1057;979	ENSP00000398048:Q1057E;ENSP00000177648:Q1057E;ENSP00000426044:Q979E	ENSP00000177648:Q1057E	Q	+	1	0	ALPK1	113575887	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.719000	0.74718	2.816000	0.96949	0.563000	0.77884	CAA	ALPK1	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase		0.378	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	C	NM_025144		113356438	1	no_errors	ENST00000177648	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113356438	C	G	113356438	3	3	153	1	0	0	0	0	1	0	0	0	544	827	29	1	3207	1	ALPK1	4	113356438	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11341467	113356438	77797838	333	26307										
ANK2	287	genome.wustl.edu	37	chr4	114280354	114280354	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctgttgagaccgagcactCagttcctgaggacatctttg	10	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:114280354C>T	ENST00000357077.4	+	38	10633	c.10580C>T	c.(10579-10581)tCa>tTa	p.S3527L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3494L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3527					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCGAGCACTCAGTTCCTGAG	0.463																																																	0													110	110	110					4																	114280354		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10580C>T	4.37:g.114280354C>T	ENSP00000349588:p.Ser3527Leu		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S3527L	ENST00000357077.4	37	c.10580	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608266	0.66558	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96745	-0.49;-0.5;-4.11	5.86	5.86	0.93980	.	0.321848	0.22369	N	0.060961	D	0.95522	0.8545	M	0.66939	2.045	0.80722	D	1	P;P	0.46142	0.799;0.873	B;B	0.39660	0.194;0.306	D	0.95064	0.8198	10	0.44086	T	0.13	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	3494;3527	Q01484;Q01484-4	ANK2_HUMAN;.	L	3527;3494;537	ENSP00000349588:S3527L;ENSP00000264366:S3494L;ENSP00000422498:S537L	ENSP00000264366:S3494L	S	+	2	0	ANK2	114499803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.592000	0.53993	2.776000	0.95493	0.650000	0.86243	TCA	ANK2	-	NULL		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114280354	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114280354	C	T	114280354	3	4	153	1	0	0	0	0	1	0	0	0	621	838	29	1	10795	1	ANK2	4	114280354	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	923916	114280354	76873922	334	26308										
USP53	54532	genome.wustl.edu	37	chr4	120192585	120192585	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacatgaccgagttgtacctCagagtcgagcttctgcacaa	9	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:120192585C>T	ENST00000274030.6	+	16	2749	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	USP53_ENST00000450251.1_Nonsense_Mutation_p.Q524*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGTTGTACCTCAGAGTCGAGC	0.408																																																	0													94	91	92					4																	120192585		1877	4094	5971	SO:0001587	stop_gained	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1570C>T	4.37:g.120192585C>T	ENSP00000274030:p.Gln524*			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q524*	ENST00000274030.6	37	c.1570	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	C	38	7.041437	0.98021	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.84	4.99	0.66335	.	0.386605	0.27130	N	0.020796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.9465	14.9836	0.71330	0.0:0.8528:0.1472:0.0	.	.	.	.	X	524	.	ENSP00000274030:Q524X	Q	+	1	0	USP53	120412033	0.995000	0.38212	0.049000	0.19019	0.259000	0.26198	3.229000	0.51278	1.433000	0.47394	0.650000	0.86243	CAG	USP53	-	NULL		0.408	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	C	XM_052597		120192585	1	no_errors	ENST00000274030	ensembl	human	known	70_37	nonsense	SNP	0.300	T	T	120192585	C	T	120192585	4	4	153	1	0	0	0	0	0	1	0	0	17115	827	29	1	1616	1	USP53	4	120192585	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5912231	120192585	70961691	335	26309										
KIAA1109	84162	genome.wustl.edu	37	chr4	123140590	123140590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acatcatccagctctgggtgGactgctgttggaatggaaaa	12	8	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:123140590G>C	ENST00000264501.4	+	21	2716	c.2343G>C	c.(2341-2343)tgG>tgC	p.W781C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.W781C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.W781C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	781					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTCTGGGTGGACTGCTGTTG	0.403																																																	0													194	185	188					4																	123140590		1887	4126	6013	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2343G>C	4.37:g.123140590G>C	ENSP00000264501:p.Trp781Cys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.W781C	ENST00000264501.4	37	c.2343	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.96|18.96	3.732972|3.732972	0.69189|0.69189	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23147	.|2.51;2.51;1.92	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|7739.210000	.|0.00166	.|N	.|0.000000	T|T	0.53626|0.53626	0.1808|0.1808	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	T|T	0.26018|0.26018	-1.0115|-1.0115	5|10	.|0.38643	.|T	.|0.18	.|.	19.9089|19.9089	0.97019|0.97019	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|781;781	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|C	614|781	.|ENSP00000264501:W781C;ENSP00000373390:W781C;ENSP00000389925:W781C	.|ENSP00000264501:W781C	D|W	+|+	1|3	0|0	KIAA1109|KIAA1109	123360040|123360040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.860000|7.860000	0.86993|0.86993	2.709000|2.709000	0.92574|0.92574	0.591000|0.591000	0.81541|0.81541	GAC|TGG	KIAA1109	-	NULL		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123140590	1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123140590	G	C	123140590	3	2	153	1	0	0	0	0	1	0	0	0	8228	1183	41	1	2417	1	KIAA1109	4	123140590	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2948005	123140590	68013686	336	26310										
SPATA5	166378	genome.wustl.edu	37	chr4	123868526	123868526	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcaggaccggctagatattCtccagaaactgcttcgaagg	10	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:123868526C>T	ENST00000274008.4	+	9	1666	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	533					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCTAGATATTCTCCAGAAACT	0.502																																																	0													94	93	93					4																	123868526		2203	4300	6503	SO:0001583	missense	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1597C>T	4.37:g.123868526C>T	ENSP00000274008:p.Leu533Phe		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.L533F	ENST00000274008.4	37	c.1597	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822324	0.50739	.	.	ENSG00000145375	ENST00000274008	D	0.96200	-3.94	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	D	0.96125	0.8737	M	0.76002	2.32	0.42889	D	0.994195	D;P	0.53312	0.959;0.933	P;P	0.52189	0.466;0.692	D	0.96167	0.9120	10	0.59425	D	0.04	-41.5449	13.4697	0.61276	0.0:0.9247:0.0:0.0753	.	533;533	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	F	533	ENSP00000274008:L533F	ENSP00000274008:L533F	L	+	1	0	SPATA5	124087976	0.961000	0.32948	0.998000	0.56505	0.993000	0.82548	1.973000	0.40550	2.534000	0.85438	0.585000	0.79938	CTC	SPATA5	-	NULL		0.502	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	C	NM_145207		123868526	1	no_errors	ENST00000274008	ensembl	human	known	70_37	missense	SNP	0.999	T	T	123868526	C	T	123868526	3	4	153	1	0	0	0	0	1	0	0	0	15041	913	32	1	1631	1	SPATA5	4	123868526	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	727936	123868526	67285750	337	26311										
PLK4	10733	genome.wustl.edu	37	chr4	128806882	128806882	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctcgacacttcatgcaccaGatcatcacagggatgttgta	9	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:128806882G>C	ENST00000270861.5	+	5	631	c.357G>C	c.(355-357)caG>caC	p.Q119H	PLK4_ENST00000515069.1_Missense_Mutation_p.Q119H|PLK4_ENST00000507249.1_Missense_Mutation_p.Q119H|PLK4_ENST00000514379.1_Missense_Mutation_p.Q78H|PLK4_ENST00000513090.1_Missense_Mutation_p.Q87H	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCATGCACCAGATCATCACAG	0.358																																					Colon(135;508 1718 19061 31832 42879)												0													179	168	171					4																	128806882		2203	4300	6503	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.357G>C	4.37:g.128806882G>C	ENSP00000270861:p.Gln119His		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.Q119H	ENST00000270861.5	37	c.357	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826831	0.50739	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.92	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.80028	2.48	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.61676	-0.7014	10	0.87932	D	0	-3.8304	9.7272	0.40339	0.2688:0.0:0.7312:0.0	.	87;119	O00444-2;O00444	.;PLK4_HUMAN	H	119;119;87;119;78	ENSP00000270861:Q119H;ENSP00000421774:Q119H;ENSP00000427554:Q87H;ENSP00000423412:Q119H;ENSP00000423582:Q78H	ENSP00000270861:Q119H	Q	+	3	2	PLK4	129026332	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.101000	0.41787	0.848000	0.35191	-0.145000	0.13849	CAG	PLK4	-	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		0.358	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	G			128806882	1	no_errors	ENST00000270861	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128806882	G	C	128806882	3	2	153	1	0	0	0	0	1	0	0	0	12122	933	33	1	375	1	PLK4	4	128806882	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4938356	128806882	62347394	338	26312										
LRBA	987	genome.wustl.edu	37	chr4	151829834	151829834	+	Nonsense_Mutation	SNP	G	G	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagcatgagtgcatgtggtGaatgaacaaaaattgaaggg							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:151829834G>T	ENST00000357115.3	-	10	1580	c.1337C>A	c.(1336-1338)tCa>tAa	p.S446*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.S446*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.S446*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.S446*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	446						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCATGTGGTGAATGAACAAA	0.393																																																	0													148	139	142					4																	151829834		2203	4300	6503	SO:0001587	stop_gained	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1337C>A	4.37:g.151829834G>T	ENSP00000349629:p.Ser446*		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S446*	ENST00000357115.3	37	c.1337	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	44	10.584494	0.99432	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7083	0.96083	0.0:0.0:1.0:0.0	.	.	.	.	X	446	.	ENSP00000349629:S446X	S	-	2	0	LRBA	152049284	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.809000	0.99208	2.726000	0.93360	0.563000	0.77884	TCA	LRBA	-	NULL		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151829834	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	151829834	G	T	151829834	4	4	153	1	0	0	0	0	0	1	0	0	8954	1294	45	3	7450	3	LRBA	4	151829834	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	23022952	151829834	39324442	339	26313	154	2								
LRBA	987	genome.wustl.edu	37	chr4	151829838	151829838	+	Missense_Mutation	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgagtgcatgtggtgaatGaacaaaaattgaagggttgt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:151829838G>A	ENST00000357115.3	-	10	1576	c.1333C>T	c.(1333-1335)Cat>Tat	p.H445Y	LRBA_ENST00000507224.1_Missense_Mutation_p.H445Y|LRBA_ENST00000535741.1_Missense_Mutation_p.H445Y|LRBA_ENST00000510413.1_Missense_Mutation_p.H445Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	445						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGGTGAATGAACAAAAATT	0.388																																																	0													150	140	144					4																	151829838		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1333C>T	4.37:g.151829838G>A	ENSP00000349629:p.His445Tyr		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.H445Y	ENST00000357115.3	37	c.1333	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834639	0.91036	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.80183	2.485	0.80722	D	1	D;D;D	0.71674	0.993;0.991;0.998	D;D;D	0.80764	0.968;0.989;0.994	T	0.81315	-0.0988	10	0.49607	T	0.09	.	19.4882	0.95039	0.0:0.0:1.0:0.0	.	445;445;445	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	Y	445	ENSP00000446299:H445Y;ENSP00000421552:H445Y;ENSP00000349629:H445Y;ENSP00000422180:H445Y	ENSP00000349629:H445Y	H	-	1	0	LRBA	152049288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.809000	0.99208	2.670000	0.90874	0.563000	0.77884	CAT	LRBA	-	NULL		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151829838	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151829838	G	A	151829838	3	1	153	1	0	0	0	0	1	0	0	0	8954	1290	45	1	7454	1	LRBA	4	151829838	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4	151829838	39324438	340	26314	154	2								
FGA	2243	genome.wustl.edu	37	chr4	155505365	155505365	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacccagaccactccattctCaatctcataaggactgttat	4	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:155505365C>G	ENST00000302053.3	-	6	2590	c.2512G>C	c.(2512-2514)Gag>Cag	p.E838Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	838	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTCCATTCTCAATCTCATAA	0.488																																					NSCLC(143;340 1922 20892 22370 48145)												0													110	116	114					4																	155505365		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2512G>C	4.37:g.155505365C>G	ENSP00000306361:p.Glu838Gln		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E838Q	ENST00000302053.3	37	c.2512	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903870	0.52333	.	.	ENSG00000171560	ENST00000302053	T	0.78707	-1.2	5.47	5.47	0.80525	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.32430	U	0.006117	T	0.74291	0.3697	L	0.33710	1.025	0.80722	D	1	B	0.16396	0.017	B	0.31245	0.126	T	0.69150	-0.5221	10	0.46703	T	0.11	.	19.3412	0.94342	0.0:1.0:0.0:0.0	.	838	P02671	FIBA_HUMAN	Q	838	ENSP00000306361:E838Q	ENSP00000306361:E838Q	E	-	1	0	FGA	155724815	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.337000	0.79256	2.586000	0.87340	0.555000	0.69702	GAG	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505365	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155505365	C	G	155505365	3	3	153	1	0	0	0	0	1	0	0	0	5848	835	29	1	92	1	FGA	4	155505365	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3675527	155505365	35648911	341	26315										
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632396	156632396	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggacaactctgtgaaaaaatCttcaagggtaaggaaaacat	9	6	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:156632396C>G	ENST00000296518.7	+	6	1288	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S360C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S102C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S360C|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S360C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S360C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S360C			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	360					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGAAAAAATCTTCAAGGGTA	0.343																																																	0													57	57	57					4																	156632396		2111	4267	6378	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1079C>G	4.37:g.156632396C>G	ENSP00000296518:p.Ser360Cys		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S360C	ENST00000296518.7	37	c.1079	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277669	0.80692	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.76	5.76	0.90799	Haem NO binding associated (1);	0.093387	0.47852	D	0.000211	D	0.91862	0.7424	L	0.49126	1.545	0.44937	D	0.997955	P;P;P	0.39071	0.658;0.658;0.658	P;P;P	0.51918	0.684;0.684;0.684	D	0.91054	0.4880	10	0.59425	D	0.04	.	20.3219	0.98684	0.0:1.0:0.0:0.0	.	360;360;360	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	C	360;360;360;360;102;360;360	ENSP00000424361:S360C;ENSP00000421493:S360C;ENSP00000426968:S360C;ENSP00000412201:S360C;ENSP00000377418:S102C;ENSP00000296518:S360C;ENSP00000426040:S360C	ENSP00000296518:S360C	S	+	2	0	GUCY1A3	156851846	0.804000	0.28969	0.952000	0.39060	0.995000	0.86356	3.183000	0.50918	2.876000	0.98609	0.643000	0.83706	TCT	GUCY1A3	-	pfam_Haem_no_assoc-bd		0.343	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	C			156632396	1	no_errors	ENST00000296518	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156632396	C	G	156632396	3	3	153	1	0	0	0	0	1	0	0	0	6914	913	32	1	1093	1	GUCY1A3	4	156632396	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1127031	156632396	34521880	342	26316										
FNIP2	57600	genome.wustl.edu	37	chr4	159789475	159789475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccttggagaaaggagaggtgGaggagtctgagtatgtggtc	18	4	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:159789475G>C	ENST00000264433.6	+	13	1762	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	FNIP2_ENST00000379346.3_Missense_Mutation_p.E586Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	563	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGAGAGGTGGAGGAGTCTGA	0.532																																																	0													84	89	88					4																	159789475		2112	4240	6352	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1687G>C	4.37:g.159789475G>C	ENSP00000264433:p.Glu563Gln		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.E586Q	ENST00000264433.6	37	c.1756	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.352297	0.95830	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.36340	1.29;1.41;1.26	5.84	5.84	0.93424	.	.	.	.	.	T	0.65281	0.2676	M	0.81942	2.565	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.64651	-0.6357	8	.	.	.	.	20.1994	0.98256	0.0:0.0:1.0:0.0	.	563	Q9P278	FNIP2_HUMAN	Q	563;586;586	ENSP00000264433:E563Q;ENSP00000421488:E586Q;ENSP00000368651:E586Q	.	E	+	1	0	FNIP2	160008925	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.745000	0.98856	2.776000	0.95493	0.650000	0.86243	GAG	FNIP2	-	NULL		0.532	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	G	NM_020840		159789475	1	no_errors	ENST00000379346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	159789475	G	C	159789475	3	2	153	1	0	0	0	0	1	0	0	0	5994	1175	41	1	1737	1	FNIP2	4	159789475	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3157079	159789475	31364801	343	26317										
NPY5R	4889	genome.wustl.edu	37	chr4	164272147	164272147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcagaagtataagctgtgGattgtccaacaaagaaaaca	9	7	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:164272147G>A	ENST00000515560.1	+	4	2244	c.722G>A	c.(721-723)gGa>gAa	p.G241E	NPY5R_ENST00000338566.3_Missense_Mutation_p.G241E|NPY5R_ENST00000506953.1_Missense_Mutation_p.G241E			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	241					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAAGCTGTGGATTGTCCAAC	0.388																																					Melanoma(139;1287 1774 9781 19750 25599)												0													62	61	61					4																	164272147		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.722G>A	4.37:g.164272147G>A	ENSP00000423917:p.Gly241Glu		Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.G241E	ENST00000515560.1	37	c.722	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	G	6.534	0.466687	0.12402	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37058	1.22;1.22;1.22	4.83	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.530453	0.15824	N	0.242869	T	0.36880	0.0983	L	0.56199	1.76	0.29594	N	0.848201	B	0.26708	0.157	B	0.33121	0.158	T	0.43310	-0.9399	10	0.62326	D	0.03	.	11.3309	0.49475	0.1524:0.0:0.8476:0.0	.	241	Q15761	NPY5R_HUMAN	E	241	ENSP00000339377:G241E;ENSP00000423917:G241E;ENSP00000423474:G241E	ENSP00000339377:G241E	G	+	2	0	NPY5R	164491597	0.994000	0.37717	0.978000	0.43139	0.136000	0.21042	2.424000	0.44714	1.352000	0.45808	0.591000	0.81541	GGA	NPY5R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.388	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	G	NM_006174		164272147	1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.967	A	A	164272147	G	A	164272147	3	1	153	1	0	0	0	0	1	0	0	0	10634	1174	41	1	724	1	NPY5R	4	164272147	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4482672	164272147	26882129	344	26318										
TKTL2	84076	genome.wustl.edu	37	chr4	164393645	164393645	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagtgggaaccaataaggttGatattggcttgagaaatggc	13	5	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:164393645G>A	ENST00000280605.3	-	1	1402	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	414						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAATAAGGTTGATATTGGCTT	0.488																																																	0													41	43	43					4																	164393645		2203	4300	6503	SO:0001819	synonymous_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1242C>T	4.37:g.164393645G>A			A4FVB4|Q8NCT0|Q96M82	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.I414	ENST00000280605.3	37	c.1242	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	G	NM_032136		164393645	-1	no_errors	ENST00000280605	ensembl	human	known	70_37	silent	SNP	1.000	A	A	164393645	G	A	164393645	2	1	153	1	0	0	0	0	0	0	0	1	15966	1280	45	1		1	TKTL2	4	164393645	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	121498	164393645	26760631	345	26319										
DDX60	55601	genome.wustl.edu	37	chr4	169169377	169169377	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccagatagactgagttttGagcaaaaaccacagatttac	7	8	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:169169377G>C	ENST00000393743.3	-	29	4216	c.3925C>G	c.(3925-3927)Caa>Gaa	p.Q1309E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1309	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTGAGTTTTGAGCAAAAACC	0.353																																																	0													125	117	119					4																	169169377		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3925C>G	4.37:g.169169377G>C	ENSP00000377344:p.Gln1309Glu		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1309E	ENST00000393743.3	37	c.3925	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	4.897	0.166631	0.09339	.	.	ENSG00000137628	ENST00000393743	T	0.74947	-0.89	4.84	1.87	0.25490	Helicase, C-terminal (3);	0.224103	0.31601	N	0.007376	T	0.51176	0.1659	N	0.04132	-0.27	0.29740	N	0.837195	P	0.38827	0.649	B	0.36030	0.216	T	0.50259	-0.8849	10	0.21540	T	0.41	.	16.4981	0.84250	0.0:0.487:0.513:0.0	.	1309	Q8IY21	DDX60_HUMAN	E	1309	ENSP00000377344:Q1309E	ENSP00000377344:Q1309E	Q	-	1	0	DDX60	169405952	0.459000	0.25768	0.975000	0.42487	0.929000	0.56500	0.471000	0.22100	0.579000	0.29504	0.557000	0.71058	CAA	DDX60	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.353	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	G	NM_017631		169169377	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.997	C	C	169169377	G	C	169169377	3	2	153	1	0	0	0	0	1	0	0	0	4383	1299	45	1	1253	1	DDX60	4	169169377	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4775732	169169377	21984899	346	26320										
DDX60	55601	genome.wustl.edu	37	chr4	169197246	169197246	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatgagttgccgatcatcttCttgtaaaagttctgagtatt	8	6	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:169197246C>G	ENST00000393743.3	-	15	2356	c.2065G>C	c.(2065-2067)Gaa>Caa	p.E689Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	689					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CGATCATCTTCTTGTAAAAGT	0.363																																																	0													138	135	136					4																	169197246		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2065G>C	4.37:g.169197246C>G	ENSP00000377344:p.Glu689Gln		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E689Q	ENST00000393743.3	37	c.2065	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541619	0.27563	.	.	ENSG00000137628	ENST00000393743	T	0.18657	2.2	5.15	4.06	0.47325	.	0.229752	0.32785	N	0.005658	T	0.19604	0.0471	M	0.69823	2.125	0.30892	N	0.730198	P	0.51791	0.948	B	0.42555	0.391	T	0.13388	-1.0511	10	0.23891	T	0.37	.	4.0156	0.09642	0.0:0.6644:0.0:0.3356	.	689	Q8IY21	DDX60_HUMAN	Q	689	ENSP00000377344:E689Q	ENSP00000377344:E689Q	E	-	1	0	DDX60	169433821	0.999000	0.42202	0.994000	0.49952	0.129000	0.20672	1.804000	0.38873	2.560000	0.86352	0.557000	0.71058	GAA	DDX60	-	NULL		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169197246	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.992	G	G	169197246	C	G	169197246	3	3	153	1	0	0	0	0	1	0	0	0	4383	922	32	1	3169	1	DDX60	4	169197246	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	27869	169197246	21957030	347	26321										
GALNT7	51809	genome.wustl.edu	37	chr4	174242730	174242730	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttcttactgtgttttccaGaacctgcacagatttactca	5	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:174242730G>A	ENST00000265000.4	+	12	1919		c.e12-1		RP11-798M19.3_ENST00000507803.1_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GTGTTTTCCAGAACCTGCACA	0.378																																																	0													112	116	114					4																	174242730		2203	4300	6503	SO:0001630	splice_region_variant	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1837-1G>A	4.37:g.174242730G>A			B3KQU3|Q7Z5W7|Q9UJ28	Splice_Site	SNP	-	e12-1	ENST00000265000.4	37	c.1837-1	CCDS3815.1	4	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854324	0.71719	.	.	ENSG00000109586	ENST00000265000;ENST00000505308	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8023	0.96513	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT7	174479305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.227000	0.89787	2.765000	0.95021	0.655000	0.94253	.	GALNT7	-	-		0.378	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	G	NM_017423	Intron	174242730	1	no_errors	ENST00000265000	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	174242730	G	A	174242730	5	1	153	1	0	0	0	0	0	0	1	0	6237	956	33	1	1882	1	GALNT7	4	174242730	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5045484	174242730	16911546	348	26322										
HMGB2	3148	genome.wustl.edu	37	chr4	174254097	174254097	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatggataggccagggtgttCacttttgatctttgggcgat	13	6	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:174254097C>T	ENST00000296503.5	-	4	1219	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HMGB2_ENST00000438704.2_Missense_Mutation_p.E116K|HMGB2_ENST00000446922.2_Missense_Mutation_p.E116K			P26583	HMGB2_HUMAN	high mobility group box 2	116					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCAGGGTGTTCACTTTTGATC	0.428																																																	0													138	143	141					4																	174254097		2203	4300	6503	SO:0001583	missense	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.346G>A	4.37:g.174254097C>T	ENSP00000296503:p.Glu116Lys		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E116K	ENST00000296503.5	37	c.346	CCDS3816.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129092	0.77549	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.06	5.06	0.68205	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.081400	0.51477	D	0.000093	D	0.97473	0.9173	L	0.56124	1.755	0.80722	D	1	B	0.25521	0.128	B	0.37239	0.244	D	0.96239	0.9174	10	0.45353	T	0.12	.	18.6138	0.91295	0.0:1.0:0.0:0.0	.	116	P26583	HMGB2_HUMAN	K	116	ENSP00000296503:E116K;ENSP00000393448:E116K;ENSP00000404912:E116K;ENSP00000423001:E116K	ENSP00000296503:E116K	E	-	1	0	HMGB2	174490672	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	7.416000	0.80143	2.626000	0.88956	0.563000	0.77884	GAA	HMGB2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.428	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	C	NM_001130688		174254097	-1	no_errors	ENST00000296503	ensembl	human	known	70_37	missense	SNP	1.000	T	T	174254097	C	T	174254097	3	4	153	1	0	0	0	0	1	0	0	0	7246	835	29	1	291	1	HMGB2	4	174254097	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11367	174254097	16900179	349	26323										
STOX2	56977	genome.wustl.edu	37	chr4	184931890	184931890	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgactttggcagaaggggtGaaaaagctctccccttctga	11	10	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:184931890G>A	ENST00000308497.4	+	3	3334	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	STOX2_ENST00000438269.1_Silent_p.V633V	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	633					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAAGGGGTGAAAAAGCTCT	0.587																																																	0													31	31	31					4																	184931890		1941	4138	6079	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1899G>A	4.37:g.184931890G>A			A6H8U4|Q9NPS8	Silent	SNP	pfam_Storkhead-box_winged-helix	p.V633	ENST00000308497.4	37	c.1899	CCDS47167.1	4																																																																																			STOX2	-	NULL		0.587	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	G	NM_020225		184931890	1	no_errors	ENST00000308497	ensembl	human	known	70_37	silent	SNP	0.995	A	A	184931890	G	A	184931890	2	1	153	1	0	0	0	0	0	0	0	1	15350	1277	45	1		1	STOX2	4	184931890	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	10677793	184931890	6222386	350	26324										
PLEKHG4B	153478	genome.wustl.edu	37	chr5	182327	182327	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcccctggtcatctgatatCagagcctgcgtcgaggaaga	12	11	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:182327C>G	ENST00000283426.6	+	18	3755	c.3705C>G	c.(3703-3705)atC>atG	p.I1235M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1235							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATCTGATATCAGAGCCTGCG	0.652																																																	0													39	42	41					5																	182327		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3705C>G	5.37:g.182327C>G	ENSP00000283426:p.Ile1235Met			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I1235M	ENST00000283426.6	37	c.3705	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	5.022	0.189832	0.09547	.	.	ENSG00000153404	ENST00000283426	T	0.34472	1.36	3.55	-0.34	0.12643	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.17930	-1.0353	9	0.36615	T	0.2	.	4.2372	0.10632	0.0:0.2913:0.5169:0.1918	.	1235	Q96PX9	PKH4B_HUMAN	M	1235	ENSP00000283426:I1235M	ENSP00000283426:I1235M	I	+	3	3	PLEKHG4B	235327	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-0.591000	0.05753	0.020000	0.15106	0.467000	0.42956	ATC	PLEKHG4B	-	NULL		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	C	NM_052909		182327	1	no_errors	ENST00000283426	ensembl	human	known	70_37	missense	SNP	0.004	G	G	182327	C	G	182327	3	3	153	1	0	0	0	0	1	0	0	0	12096	816	29	1	3775	1	PLEKHG4B	5	182327	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		182327	180732933	351	26325										
CEP72	55722	genome.wustl.edu	37	chr5	633995	633995	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcagagtgcgagtgggacctCggcaggcctcccgggagcac	17	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:633995C>T	ENST00000264935.5	+	5	714	c.624C>T	c.(622-624)ctC>ctT	p.L208L	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	208					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGTGGGACCTCGGCAGGCCTC	0.647																																																	0													83	87	85					5																	633995		2203	4300	6503	SO:0001819	synonymous_variant	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.624C>T	5.37:g.633995C>T			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.L208	ENST00000264935.5	37	c.624	CCDS34126.1	5																																																																																			CEP72	-	NULL		0.647	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	C	NM_018140		633995	1	no_errors	ENST00000264935	ensembl	human	known	70_37	silent	SNP	0.949	T	T	633995	C	T	633995	2	4	153	1	0	0	0	0	0	0	0	1	3265	871	31	1		1	CEP72	5	633995	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	451668	633995	180281265	352	26326										
CEP72	55722	genome.wustl.edu	37	chr5	635651	635651	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactgtacggagcggagccaGaggcctcccgtgcccccagg	14	16	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:635651G>C	ENST00000264935.5	+	6	946	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	286					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGCGGAGCCAGAGGCCTCCCG	0.592																																																	0													63	66	65					5																	635651		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.856G>C	5.37:g.635651G>C	ENSP00000264935:p.Glu286Gln		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E286Q	ENST00000264935.5	37	c.856	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	6.400	0.441908	0.12164	.	.	ENSG00000112877	ENST00000264935	T	0.10573	2.86	3.72	0.796	0.18648	.	1.528680	0.03837	N	0.269931	T	0.06462	0.0166	N	0.08118	0	0.09310	N	0.999999	B	0.17465	0.022	B	0.16289	0.015	T	0.36768	-0.9734	10	0.56958	D	0.05	-1.2447	4.9466	0.13993	0.2145:0.1944:0.5911:0.0	.	286	Q9P209	CEP72_HUMAN	Q	286	ENSP00000264935:E286Q	ENSP00000264935:E286Q	E	+	1	0	CEP72	688651	0.251000	0.23961	0.003000	0.11579	0.009000	0.06853	1.081000	0.30791	0.013000	0.14918	-0.251000	0.11542	GAG	CEP72	-	NULL		0.592	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		635651	1	no_errors	ENST00000264935	ensembl	human	known	70_37	missense	SNP	0.042	C	C	635651	G	C	635651	3	2	153	1	0	0	0	0	1	0	0	0	3265	943	33	1	878	1	CEP72	5	635651	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1656	635651	180279609	353	26327										
SLC12A7	10723	genome.wustl.edu	37	chr5	1076263	1076263	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggcctcaccagtggtagaActtgaagcgtggacgccagt	14	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:1076263A>T	ENST00000264930.5	-	14	1880	c.1837T>A	c.(1837-1839)Ttc>Atc	p.F613I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	613					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGTGGTAGAACTTGAAGCGT	0.642																																																	0													61	52	55					5																	1076263		2196	4296	6492	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1837T>A	5.37:g.1076263A>T	ENSP00000264930:p.Phe613Ile		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F613I	ENST00000264930.5	37	c.1837	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	a	16.34	3.095529	0.56075	.	.	ENSG00000113504	ENST00000264930	D	0.98455	-4.94	4.37	3.15	0.36227	Amino acid permease domain (1);	0.541413	0.19899	N	0.103548	D	0.95868	0.8655	L	0.58101	1.795	0.80722	D	1	P	0.35821	0.523	B	0.32149	0.141	D	0.93203	0.6593	10	0.52906	T	0.07	.	8.377	0.32449	0.8237:0.0:0.0:0.1763	.	613	Q9Y666	S12A7_HUMAN	I	613	ENSP00000264930:F613I	ENSP00000264930:F613I	F	-	1	0	SLC12A7	1129263	1.000000	0.71417	0.742000	0.31022	0.926000	0.56050	8.226000	0.89785	0.588000	0.29660	0.402000	0.26972	TTC	SLC12A7	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	A	NM_006598		1076263	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	missense	SNP	0.995	T	T	1076263	A	T	1076263	3	4	153	1	0	0	0	0	1	0	0	0	14418	43	2	5	1458	5	SLC12A7	5	1076263	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	440612	1076263	179838997	354	26328										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5222971	5222971	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctaaatttatgccagcagcaGaaggcacaatttgtgggcat	10	8	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:5222971G>A	ENST00000274181.7	+	11	1813	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E559K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	559	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCAGCAGCAGAAGGCACAAT	0.418																																																	0													117	111	113					5																	5222971		1993	4176	6169	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1675G>A	5.37:g.5222971G>A	ENSP00000274181:p.Glu559Lys		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E559K	ENST00000274181.7	37	c.1675	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.502150	0.96371	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.68025	-0.3;-0.3	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.80764	0.877;0.994;0.987	D	0.88838	0.3310	10	0.87932	D	0	.	18.1844	0.89788	0.0:0.0:1.0:0.0	.	559;559;559	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	K	559	ENSP00000274181:E559K;ENSP00000421631:E559K	ENSP00000274181:E559K	E	+	1	0	ADAMTS16	5275971	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	8.574000	0.90763	2.579000	0.87056	0.655000	0.94253	GAA	ADAMTS16	-	NULL		0.418	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5222971	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5222971	G	A	5222971	3	1	153	1	0	0	0	0	1	0	0	0	261	943	33	1	1717	1	ADAMTS16	5	5222971	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4146708	5222971	175692289	355	26329										
PAPD7	11044	genome.wustl.edu	37	chr5	6749688	6749688	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtactttaggaagaatcatCaaagtaactcaggaggtgat	10	5	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:6749688C>G	ENST00000230859.6	+	9	984	c.855C>G	c.(853-855)atC>atG	p.I285M		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	515					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGAATCATCAAAGTAACTC	0.483																																					NSCLC(7;212 333 5667 23379 46547)												0													158	164	162					5																	6749688		2203	4300	6503	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.855C>G	5.37:g.6749688C>G	ENSP00000230859:p.Ile285Met		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.I285M	ENST00000230859.6	37	c.855	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930428	0.34096	.	.	ENSG00000112941	ENST00000230859	T	0.40225	1.04	5.61	5.61	0.85477	.	0.152155	0.64402	D	0.000017	T	0.47432	0.1445	M	0.80616	2.505	0.53005	D	0.99996	B;B	0.23058	0.079;0.079	B;B	0.29267	0.1;0.1	T	0.50717	-0.8795	10	0.62326	D	0.03	-7.6396	10.1639	0.42868	0.0:0.8511:0.0:0.1489	.	285;285	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	M	285	ENSP00000230859:I285M	ENSP00000230859:I285M	I	+	3	3	PAPD7	6802688	0.989000	0.36119	1.000000	0.80357	0.827000	0.46813	0.217000	0.17603	2.793000	0.96121	0.655000	0.94253	ATC	PAPD7	-	NULL		0.483	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1	C	NM_006999		6749688	1	no_errors	ENST00000230859	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6749688	C	G	6749688	3	3	153	1	0	0	0	0	1	0	0	0	11450	816	29	1	885	1	PAPD7	5	6749688	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1526717	6749688	174165572	356	26330										
MARCH6	10299	genome.wustl.edu	37	chr5	10377945	10377945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcggtcagaaggaacacctGagaaaccgctttatcatcct	9	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:10377945G>C	ENST00000274140.5	+	2	187	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	MARCH6_ENST00000449913.2_Missense_Mutation_p.E19Q|MARCH6_ENST00000503788.1_Intron	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	19					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E19K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGGAACACCTGAGAAACCGCT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											166	144	151					5																	10377945		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.55G>C	5.37:g.10377945G>C	ENSP00000274140:p.Glu19Gln		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E19Q	ENST00000274140.5	37	c.55	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129662	0.77549	.	.	ENSG00000145495	ENST00000449913;ENST00000274140	T;T	0.31769	1.48;1.48	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.053345	0.64402	D	0.000001	T	0.30135	0.0755	L	0.28694	0.88	0.80722	D	1	P;B	0.36354	0.549;0.021	B;B	0.38985	0.287;0.096	T	0.08229	-1.0732	10	0.59425	D	0.04	-22.6137	19.0512	0.93046	0.0:0.0:1.0:0.0	.	19;19	B4DT33;O60337	.;MARH6_HUMAN	Q	19	ENSP00000414643:E19Q;ENSP00000274140:E19Q	ENSP00000274140:E19Q	E	+	1	0	MARCH6	10430945	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.450000	0.97607	2.649000	0.89929	0.591000	0.81541	GAG	MARCH6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10377945	1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10377945	G	C	10377945	3	2	153	1	0	0	0	0	1	0	0	0	9328	1291	45	1	61	1	MARCH6	5	10377945	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3628257	10377945	170537315	357	26331										
TRIO	7204	genome.wustl.edu	37	chr5	14462916	14462916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctctccaaatcctcctcctCggggatgcagagctgtggag	11	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:14462916C>T	ENST00000344204.4	+	36	5573	c.5549C>T	c.(5548-5550)tCg>tTg	p.S1850L	TRIO_ENST00000537187.1_Missense_Mutation_p.S1850L|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1850	Poly-Ser.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCTCCTCCTCGGGGATGCAG	0.612																																																	0													73	83	80					5																	14462916		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5549C>T	5.37:g.14462916C>T	ENSP00000339299:p.Ser1850Leu		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S1850L	ENST00000344204.4	37	c.5549	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159218	0.57368	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.66638	-0.22;-0.2	5.47	4.6	0.57074	.	0.203479	0.44688	D	0.000428	T	0.60470	0.2271	L	0.51422	1.61	0.58432	D	0.999997	P;B;P	0.45428	0.858;0.417;0.569	B;B;B	0.38194	0.267;0.119;0.086	T	0.61758	-0.6997	10	0.36615	T	0.2	.	16.3712	0.83361	0.0:0.8681:0.1319:0.0	.	1850;1850;1850	D3DTD2;O75962-5;O75962	.;.;TRIO_HUMAN	L	1850;1850;1537	ENSP00000339299:S1850L;ENSP00000446348:S1850L	ENSP00000339299:S1850L	S	+	2	0	TRIO	14515916	1.000000	0.71417	0.719000	0.30619	0.374000	0.29953	7.755000	0.85180	1.301000	0.44836	-0.165000	0.13383	TCG	TRIO	-	NULL		0.612	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	C	NM_007118		14462916	1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	0.998	T	T	14462916	C	T	14462916	3	4	153	1	0	0	0	0	1	0	0	0	16583	893	31	1	5691	1	TRIO	5	14462916	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4084971	14462916	166452344	358	26332										
TRIO	7204	genome.wustl.edu	37	chr5	14507291	14507291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaagcctcactgaagggaaGatcagggcgcacctggggga	17	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:14507291G>C	ENST00000344204.4	+	56	8697	c.8673G>C	c.(8671-8673)aaG>aaC	p.K2891N	TRIO_ENST00000344135.5_Missense_Mutation_p.K390N|TRIO_ENST00000537187.1_Missense_Mutation_p.K2715N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGAAGGGAAGATCAGGGCGC	0.607																																																	0													76	67	70					5																	14507291		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8673G>C	5.37:g.14507291G>C	ENSP00000339299:p.Lys2891Asn		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.K2891N	ENST00000344204.4	37	c.8673	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088169	0.76642	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.66280	-0.2;-0.2;-0.2	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	N	0.21508	0.67	0.25302	N	0.989274	D	0.76494	0.999	D	0.87578	0.998	T	0.66540	-0.5898	10	0.66056	D	0.02	.	19.4354	0.94792	0.0:0.0:1.0:0.0	.	2891	O75962	TRIO_HUMAN	N	2891;2715;390	ENSP00000339299:K2891N;ENSP00000446348:K2715N;ENSP00000339291:K390N	ENSP00000339291:K390N	K	+	3	2	TRIO	14560291	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.823000	0.48081	2.583000	0.87209	0.655000	0.94253	AAG	TRIO	-	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		0.607	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14507291	1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14507291	G	C	14507291	3	2	153	1	0	0	0	0	1	0	0	0	16583	933	33	1	8895	1	TRIO	5	14507291	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	44375	14507291	166407969	359	26333										
FAM105A	54491	genome.wustl.edu	37	chr5	14601467	14601467	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttatttggtccagggaacctCagtgtggaggcagaggttga	15	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:14601467C>T	ENST00000274217.3	+	4	384	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	88										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGGGAACCTCAGTGTGGAGG	0.398																																																	0													77	74	75					5																	14601467		2203	4300	6503	SO:0001819	synonymous_variant	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.264C>T	5.37:g.14601467C>T			Q53H50|Q9H037	Silent	SNP	prints_FAM105,prints_FAM105A	p.L88	ENST00000274217.3	37	c.264	CCDS3884.1	5																																																																																			FAM105A	-	NULL		0.398	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	C	NM_019018		14601467	1	no_errors	ENST00000274217	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14601467	C	T	14601467	2	4	153	1	0	0	0	0	0	0	0	1	5402	813	29	1		1	FAM105A	5	14601467	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	94176	14601467	166313793	360	26334										
MYO10	4651	genome.wustl.edu	37	chr5	16761604	16761604	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagcaaattgagaaggtcatCtcgaaatgtatctctgttct	8	7	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:16761604C>T	ENST00000513610.1	-	17	2162	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	570	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGAAGGTCATCTCGAAATGTA	0.358																																																	0													105	102	103					5																	16761604		1845	4099	5944	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1708G>A	5.37:g.16761604C>T	ENSP00000421280:p.Asp570Asn		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.D570N	ENST00000513610.1	37	c.1708	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391373	0.83011	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.72051	-0.62;-0.62	5.82	5.82	0.92795	Myosin head, motor domain (2);	.	.	.	.	D	0.83783	0.5329	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.978	T	0.82198	-0.0576	9	0.45353	T	0.12	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	211;570	Q69YP8;Q9HD67	.;MYO10_HUMAN	N	570;581	ENSP00000421280:D570N;ENSP00000421309:D581N	ENSP00000421280:D570N	D	-	1	0	MYO10	16814604	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.763000	0.85283	2.765000	0.95021	0.650000	0.86243	GAT	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.358	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16761604	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16761604	C	T	16761604	3	4	153	1	0	0	0	0	1	0	0	0	10085	913	32	1	4568	1	MYO10	5	16761604	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2160137	16761604	164153656	361	26335										
PRDM9	56979	genome.wustl.edu	37	chr5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accagctttcatgtgtcaccGaaggcaggccatcaaactcc	8	14	3	0	rs375716818		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468										HNSCC(3;0.000094)																																							0								G	GLN/ARG	2,3722		0,2,1860	79	75	76		230	0.5	0.5	5		76	0,8212		0,0,4106	no	missense	PRDM9	NM_020227.2	43	0,2,5966	AA,AG,GG		0.0,0.0537,0.0168	benign	77/895	23510065	2,11934	1862	4106	5968	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.230G>A	5.37:g.23510065G>A	ENSP00000296682:p.Arg77Gln		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R77Q	ENST00000296682.3	37	c.230	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526064	0.27299	5.37E-4	0.0	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.00792	5.69;5.69	3.79	0.473	0.16763	Krueppel-associated box (2);Krueppel-associated box-related (1);	.	.	.	.	T	0.00580	0.0019	N	0.24115	0.695	0.09310	N	1	B	0.26845	0.161	B	0.12156	0.007	T	0.45160	-0.9280	9	0.14252	T	0.57	2.4103	5.9073	0.19008	0.4259:0.0:0.5741:0.0	.	77	Q9NQV7	PRDM9_HUMAN	Q	77	ENSP00000425471:R77Q;ENSP00000296682:R77Q	ENSP00000296682:R77Q	R	+	2	0	PRDM9	23545822	0.696000	0.27757	0.530000	0.27963	0.941000	0.58515	0.639000	0.24690	-0.005000	0.14395	0.609000	0.83330	CGA	PRDM9	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.468	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23510065	1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	0.293	A	A	23510065	G	A	23510065	3	1	153	1	0	0	0	0	1	0	0	0	12490	1058	37	1	240	1	PRDM9	5	23510065	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6748461	23510065	157405195	362	26336										
C5orf22	55322	genome.wustl.edu	37	chr5	31552926	31552926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgaccaagttgacactattCaagaaaaggtcctcaatatg	7	9	2	3	rs147146477		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:31552926C>G	ENST00000325366.9	+	9	1373	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E	C5orf22_ENST00000355907.3_Missense_Mutation_p.Q137E|C5orf22_ENST00000504866.1_3'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	416										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TGACACTATTCAAGAAAAGGT	0.388													C|||	1	0.000199681	8e-04	0	5008	,	,		20109	0		0	False		,,,				2504	0																0								C	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	131	121	125		1246	5.7	1	5	dbSNP_134	125	0,8600		0,0,4300	no	missense	C5orf22	NM_018356.2	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	416/443	31552926	1,13005	2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1246C>G	5.37:g.31552926C>G	ENSP00000326879:p.Gln416Glu		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	superfamily_ICAT	p.Q416E	ENST00000325366.9	37	c.1246	CCDS3895.1	5	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864375	0.71949	2.27E-4	0.0	ENSG00000082213	ENST00000325366;ENST00000355907;ENST00000543911	T;T	0.54479	1.12;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	L	0.49126	1.545	0.58432	D	0.999999	D;D	0.69078	0.965;0.997	P;D	0.78314	0.885;0.991	T	0.70457	-0.4866	10	0.87932	D	0	-15.6359	19.5083	0.95130	0.0:1.0:0.0:0.0	.	137;416	Q49AR2-3;Q49AR2	.;CE022_HUMAN	E	416;137;151	ENSP00000326879:Q416E;ENSP00000348171:Q137E	ENSP00000326879:Q416E	Q	+	1	0	C5orf22	31588683	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.923000	0.70045	2.721000	0.93114	0.655000	0.94253	CAA	C5orf22	-	NULL		0.388	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf22	HGNC	protein_coding	OTTHUMT00000253726.2	C	NM_018356		31552926	1	no_errors	ENST00000325366	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31552926	C	G	31552926	3	3	153	1	0	0	0	0	1	0	0	0	2290	827	29	1	1280	1	C5orf22	5	31552926	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8042861	31552926	149362334	363	26337										
PDZD2	23037	genome.wustl.edu	37	chr5	32089706	32089706	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgtccgtggcagggaacaGacagagtgagccgcgcctgg	16	11	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:32089706G>C	ENST00000438447.1	+	20	6540	c.6152G>C	c.(6151-6153)aGa>aCa	p.R2051T	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2051T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2051					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCAGGGAACAGACAGAGTGAG	0.637																																																	0													70	77	75					5																	32089706		2203	4299	6502	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6152G>C	5.37:g.32089706G>C	ENSP00000402033:p.Arg2051Thr		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R2051T	ENST00000438447.1	37	c.6152	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338835	0.41398	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07114	3.22;3.22	4.74	3.86	0.44501	.	0.822761	0.10815	N	0.631125	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25984	-1.0116	10	0.48119	T	0.1	.	8.819	0.35014	0.1052:0.0:0.8948:0.0	.	2051	O15018	PDZD2_HUMAN	T	2051;1852;2051	ENSP00000402033:R2051T;ENSP00000282493:R2051T	ENSP00000282493:R2051T	R	+	2	0	PDZD2	32125463	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.411000	0.21115	0.975000	0.38392	0.655000	0.94253	AGA	PDZD2	-	NULL		0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32089706	1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.009	C	C	32089706	G	C	32089706	3	2	153	1	0	0	0	0	1	0	0	0	11725	942	33	1	6226	1	PDZD2	5	32089706	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	536780	32089706	148825554	364	26338										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33616118	33616118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggaagtttccagctccctCaatttccatcactcttatgt	5	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:33616118C>T	ENST00000504830.1	-	15	2538	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E650K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	735	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCTCCCTCAATTTCCATC	0.448										HNSCC(64;0.19)																																							0													106	101	103					5																	33616118		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2203G>A	5.37:g.33616118C>T	ENSP00000422554:p.Glu735Lys		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E735K	ENST00000504830.1	37	c.2203	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857104	0.32791	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.49720	0.77;0.77	5.51	3.5	0.40072	ADAM-TS Spacer 1 (1);	0.294225	0.36854	N	0.002361	T	0.29321	0.0730	N	0.17838	0.53	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.004;0.013	T	0.04915	-1.0918	10	0.30854	T	0.27	.	7.6199	0.28179	0.0:0.6405:0.0:0.3595	.	650;735	P58397-3;P58397	.;ATS12_HUMAN	K	735;650	ENSP00000422554:E735K;ENSP00000344847:E650K	ENSP00000344847:E650K	E	-	1	0	ADAMTS12	33651875	0.700000	0.27796	0.976000	0.42696	0.473000	0.32948	1.526000	0.35964	0.458000	0.26988	0.561000	0.74099	GAG	ADAMTS12	-	pfam_ADAM_spacer1		0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33616118	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.998	T	T	33616118	C	T	33616118	3	4	153	1	0	0	0	0	1	0	0	0	257	835	29	1	2621	1	ADAMTS12	5	33616118	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1526412	33616118	147299142	365	26339										
RANBP3L	202151	genome.wustl.edu	37	chr5	36265092	36265092	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttttctttagtcttgcaaGattccagtgccttgtgtcca	7	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:36265092G>C	ENST00000296604.3	-	6	934	c.449C>G	c.(448-450)tCt>tGt	p.S150C	RANBP3L_ENST00000515759.1_Missense_Mutation_p.S150C|RANBP3L_ENST00000502994.1_Missense_Mutation_p.S175C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	150					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGTCTTGCAAGATTCCAGTGC	0.393																																																	0													174	181	179					5																	36265092		2203	4300	6503	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.449C>G	5.37:g.36265092G>C	ENSP00000296604:p.Ser150Cys		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.S150C	ENST00000296604.3	37	c.449	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258955	0.23051	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.26518	1.78;1.73;1.79	5.53	2.13	0.27403	.	1.370420	0.04443	N	0.371150	T	0.29914	0.0748	L	0.56769	1.78	0.09310	N	1	P;D	0.54047	0.939;0.964	P;B	0.46479	0.518;0.436	T	0.20140	-1.0284	10	0.72032	D	0.01	4.387	2.0	0.03465	0.124:0.1824:0.4653:0.2283	.	175;150	E9PGP9;Q86VV4	.;RNB3L_HUMAN	C	150;175;150	ENSP00000296604:S150C;ENSP00000421853:S175C;ENSP00000421149:S150C	ENSP00000296604:S150C	S	-	2	0	RANBP3L	36300849	0.376000	0.25098	0.561000	0.28357	0.054000	0.15201	0.544000	0.23253	0.730000	0.32425	0.650000	0.86243	TCT	RANBP3L	-	NULL		0.393	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	G	NM_145000		36265092	-1	no_errors	ENST00000296604	ensembl	human	known	70_37	missense	SNP	0.203	C	C	36265092	G	C	36265092	3	2	153	1	0	0	0	0	1	0	0	0	13060	942	33	1	984	1	RANBP3L	5	36265092	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2648974	36265092	144650168	366	26340										
NIPBL	25836	genome.wustl.edu	37	chr5	36985324	36985324	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaaaatagactgtctgacaCaaaaccaaatgacaacaaac	5	9	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:36985324C>G	ENST00000282516.8	+	10	2541	c.2042C>G	c.(2041-2043)aCa>aGa	p.T681R	NIPBL_ENST00000448238.2_Missense_Mutation_p.T681R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	681					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGTCTGACACAAAACCAAAT	0.398																																																	0													80	78	79					5																	36985324		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2042C>G	5.37:g.36985324C>G	ENSP00000282516:p.Thr681Arg		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T681R	ENST00000282516.8	37	c.2042	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049532	0.19827	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92752	-3.07;-3.1	5.98	5.01	0.66863	.	0.590452	0.17319	N	0.178581	D	0.83018	0.5163	N	0.14661	0.345	0.25248	N	0.989698	B;B	0.16603	0.01;0.018	B;B	0.25291	0.026;0.059	T	0.68258	-0.5456	10	0.14656	T	0.56	.	8.1271	0.31005	0.0:0.7959:0.0:0.2041	.	681;681	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	R	681	ENSP00000282516:T681R;ENSP00000406266:T681R	ENSP00000282516:T681R	T	+	2	0	NIPBL	37021081	0.017000	0.18338	1.000000	0.80357	0.993000	0.82548	0.194000	0.17135	1.269000	0.44280	0.650000	0.86243	ACA	NIPBL	-	NULL		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		36985324	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	0.753	G	G	36985324	C	G	36985324	3	3	153	1	0	0	0	0	1	0	0	0	10452	478	17	4	2076	4	NIPBL	5	36985324	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	720232	36985324	143929936	367	26341										
NIPBL	25836	genome.wustl.edu	37	chr5	37057354	37057354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttttccataccagacacagGaagagccgttgtttataatg	9	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:37057354G>A	ENST00000282516.8	+	43	7829	c.7330G>A	c.(7330-7332)Gaa>Aaa	p.E2444K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2444K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2444					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAGACACAGGAAGAGCCGTT	0.373																																																	0													103	96	98					5																	37057354		2202	4300	6502	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7330G>A	5.37:g.37057354G>A	ENSP00000282516:p.Glu2444Lys		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2444K	ENST00000282516.8	37	c.7330	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.556459	0.96514	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96011	-3.88;-3.88	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.74881	2.28	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.986	D;D;D	0.70935	0.971;0.95;0.917	D	0.97684	1.0174	10	0.66056	D	0.02	-18.3845	20.1178	0.97943	0.0:0.0:1.0:0.0	.	2444;2444;2444	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	K	2444	ENSP00000282516:E2444K;ENSP00000406266:E2444K	ENSP00000282516:E2444K	E	+	1	0	NIPBL	37093111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.759000	0.94783	0.557000	0.71058	GAA	NIPBL	-	NULL		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	G	NM_015384		37057354	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37057354	G	A	37057354	3	1	153	1	0	0	0	0	1	0	0	0	10452	1175	41	1	7496	1	NIPBL	5	37057354	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	72030	37057354	143857906	368	26342										
C5orf42	65250	genome.wustl.edu	37	chr5	37138831	37138831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcaatgattacctggaggtgCccatagcttgttctgttaag	10	8	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:37138831C>T	ENST00000508244.1	-	44	8714	c.8621G>A	c.(8620-8622)gGc>gAc	p.G2874D	C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.G2874D|C5orf42_ENST00000274258.7_Missense_Mutation_p.G1772D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2874						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGGTGCCCATAGCTTG	0.323																																																	0													132	137	135					5																	37138831		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8621G>A	5.37:g.37138831C>T	ENSP00000421690:p.Gly2874Asp		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.G2874D	ENST00000508244.1	37	c.8621	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	2.038	-0.420764	0.04734	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.53	-2.77	0.05877	.	1.395990	0.04038	N	0.302675	T	0.17280	0.0415	N	0.03608	-0.345	0.09310	N	1	B;B	0.19200	0.006;0.034	B;B	0.18561	0.014;0.022	T	0.21008	-1.0258	10	0.07813	T	0.8	.	6.9067	0.24313	0.0:0.2307:0.1597:0.6096	.	2874;1772	E9PH94;Q9H799	.;CE042_HUMAN	D	2874;2874;1772;1940;1808	ENSP00000421690:G2874D;ENSP00000389014:G2874D;ENSP00000274258:G1772D;ENSP00000424223:G1940D	ENSP00000274258:G1772D	G	-	2	0	C5orf42	37174588	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.607000	0.05648	-0.371000	0.08004	-0.150000	0.13652	GGC	C5orf42	-	NULL		0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37138831	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.000	T	T	37138831	C	T	37138831	3	4	153	1	0	0	0	0	1	0	0	0	2306	739	26	4	1004	4	C5orf42	5	37138831	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	81477	37138831	143776429	369	26343										
PTGER4	5734	genome.wustl.edu	37	chr5	40681722	40681722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacgtgcttgtgtgcggcgcGctgctccgcatgcaccgcca	13	15	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:40681722G>A	ENST00000302472.3	+	2	1651	c.627G>A	c.(625-627)gcG>gcA	p.A209A	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	209					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGTGCGGCGCGCTGCTCCGCA	0.706																																																	0													21	18	19					5																	40681722		2200	4294	6494	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.627G>A	5.37:g.40681722G>A			Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.A209	ENST00000302472.3	37	c.627	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt		0.706	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	G	NM_000958		40681722	1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.995	A	A	40681722	G	A	40681722	2	1	153	1	0	0	0	0	0	0	0	1	12773	1074	38	2		2	PTGER4	5	40681722	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3542891	40681722	140233538	370	26344										
PTGER4	5734	genome.wustl.edu	37	chr5	40681917	40681917	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccagatggtcatcttactCattgccacctccctggtggt	8	13	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:40681917C>T	ENST00000302472.3	+	2	1846	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	274					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCATCTTACTCATTGCCACCT	0.677																																																	0													32	35	34					5																	40681917		2125	4060	6185	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.822C>T	5.37:g.40681917C>T			Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.L274	ENST00000302472.3	37	c.822	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt		0.677	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681917	1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40681917	C	T	40681917	2	4	153	1	0	0	0	0	0	0	0	1	12773	813	29	1		1	PTGER4	5	40681917	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	195	40681917	140233343	371	26345										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41038900	41038900	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcttgattaagtctggagaGaagttgcttcttgggagcat	12	5	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:41038900G>C	ENST00000399564.4	-	21	2602	c.2152C>G	c.(2152-2154)Ctc>Gtc	p.L718V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L273V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	718																	AGTCTGGAGAGAAGTTGCTTC	0.493																																																	0													70	71	71					5																	41038900		1924	4133	6057	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2152C>G	5.37:g.41038900G>C	ENSP00000382476:p.Leu718Val		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L718V	ENST00000399564.4	37	c.2152	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930526	0.52866	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69685	4.75;-0.42	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.46442	D	0.000293	T	0.79730	0.4496	M	0.72118	2.19	0.36013	D	0.838229	D	0.71674	0.998	D	0.83275	0.996	T	0.78984	-0.1988	10	0.22706	T	0.39	.	15.7506	0.77983	0.0:0.0:1.0:0.0	.	718	Q7Z745	HTRB2_HUMAN	V	273;423;718	ENSP00000441504:L273V;ENSP00000382476:L718V	ENSP00000296803:L423V	L	-	1	0	HEATR7B2	41074657	1.000000	0.71417	0.984000	0.44739	0.242000	0.25591	4.815000	0.62634	2.861000	0.98227	0.655000	0.94253	CTC	HEATR7B2	-	superfamily_ARM-type_fold		0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41038900	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.997	C	C	41038900	G	C	41038900	3	2	153	1	0	0	0	0	1	0	0	0	7055	942	33	1	2693	1	HEATR7B2	5	41038900	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	356983	41038900	139876360	372	26346										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41045946	41045946	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgatcttccataaggattCtttgagcaactgttgtagga	9	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:41045946C>G	ENST00000399564.4	-	18	2188	c.1738G>C	c.(1738-1740)Gaa>Caa	p.E580Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.E135Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	580																	CATAAGGATTCTTTGAGCAAC	0.383																																																	0													189	180	183					5																	41045946		1945	4147	6092	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1738G>C	5.37:g.41045946C>G	ENSP00000382476:p.Glu580Gln		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E580Q	ENST00000399564.4	37	c.1738	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210537	0.58343	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68479	2.96;-0.33	5.51	5.51	0.81932	Armadillo-type fold (1);	0.415062	0.20437	N	0.092360	T	0.77212	0.4097	L	0.51422	1.61	0.39891	D	0.973777	D	0.76494	0.999	D	0.83275	0.996	T	0.75986	-0.3124	10	0.39692	T	0.17	.	14.911	0.70758	0.0:1.0:0.0:0.0	.	580	Q7Z745	HTRB2_HUMAN	Q	135;285;580	ENSP00000441504:E135Q;ENSP00000382476:E580Q	ENSP00000296803:E285Q	E	-	1	0	HEATR7B2	41081703	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.273000	0.43381	2.579000	0.87056	0.585000	0.79938	GAA	HEATR7B2	-	superfamily_ARM-type_fold		0.383	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	C	NM_173489		41045946	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41045946	C	G	41045946	3	3	153	1	0	0	0	0	1	0	0	0	7055	922	32	1	3119	1	HEATR7B2	5	41045946	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7046	41045946	139869314	373	26347										
GHR	2690	genome.wustl.edu	37	chr5	42718888	42718888	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagcagatctcttatgccttGaccagaagaatcaaaataac	6	9	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:42718888G>C	ENST00000230882.4	+	10	1469	c.1279G>C	c.(1279-1281)Gac>Cac	p.D427H	GHR_ENST00000357703.3_Missense_Mutation_p.D405H|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.D240H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	427					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTTATGCCTTGACCAGAAGAA	0.453																																																	0													79	71	74					5																	42718888		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1279G>C	5.37:g.42718888G>C	ENSP00000230882:p.Asp427His		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D427H	ENST00000230882.4	37	c.1279	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024396	0.35701	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.38240	1.15;1.15;1.15	6.02	5.14	0.70334	.	0.374699	0.32473	N	0.006043	T	0.50017	0.1591	M	0.83953	2.67	0.50467	D	0.999871	B	0.31989	0.35	B	0.44163	0.443	T	0.43940	-0.9360	10	0.28530	T	0.3	-18.32	11.7226	0.51691	0.0674:0.1249:0.8078:0.0	.	427	P10912	GHR_HUMAN	H	427;405;240	ENSP00000230882:D427H;ENSP00000350335:D405H;ENSP00000442206:D240H	ENSP00000230882:D427H	D	+	1	0	GHR	42754645	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.916000	0.48813	2.859000	0.98148	0.591000	0.81541	GAC	GHR	-	NULL		0.453	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	G	NM_000163		42718888	1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42718888	G	C	42718888	3	2	153	1	0	0	0	0	1	0	0	0	6390	1290	45	1	1313	1	GHR	5	42718888	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1672942	42718888	138196372	374	26348										
SKIV2L2	23517	genome.wustl.edu	37	chr5	54618187	54618187	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggtaaattacaatcagaatCaactaataatggaaaaaata	5	4	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:54618187C>G	ENST00000230640.5	+	2	421	c.167C>G	c.(166-168)tCa>tGa	p.S56*	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	56					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CAATCAGAATCAACTAATAAT	0.328																																					Melanoma(2;92 134 23744 29976 33782)												0													89	99	96					5																	54618187		2203	4299	6502	SO:0001587	stop_gained	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.167C>G	5.37:g.54618187C>G	ENSP00000230640:p.Ser56*		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S56*	ENST00000230640.5	37	c.167	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001789	0.93227	.	.	ENSG00000039123	ENST00000230640	.	.	.	5.66	5.66	0.87406	.	0.235070	0.34580	N	0.003854	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-3.6695	18.5109	0.90916	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000230640:S56X	S	+	2	0	SKIV2L2	54653944	0.029000	0.19370	0.436000	0.26797	0.971000	0.66376	2.600000	0.46240	2.649000	0.89929	0.563000	0.77884	TCA	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.328	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	C			54618187	1	no_errors	ENST00000230640	ensembl	human	known	70_37	nonsense	SNP	0.164	G	G	54618187	C	G	54618187	4	3	153	1	0	0	0	0	0	1	0	0	14390	838	29	1	173	1	SKIV2L2	5	54618187	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11899299	54618187	126297073	375	26349										
DIMT1L	27292	genome.wustl.edu	37	chr5	61694524	61694524	+	Silent	SNP	C	C	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaatggcaaatctgttttCagcacatcacccaccagtac							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:61694524C>A	ENST00000199320.4	-	5	505	c.345G>T	c.(343-345)ctG>ctT	p.L115L	DIMT1_ENST00000506390.1_Silent_p.L115L|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	115						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										AATCTGTTTTCAGCACATCAC	0.388																																																	0													107	103	104					5																	61694524		2203	4300	6503	SO:0001819	synonymous_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.345G>T	5.37:g.61694524C>A			O76025|Q9BU77|Q9UES1	Silent	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.L115	ENST00000199320.4	37	c.345	CCDS3981.1	5																																																																																			DIMT1	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase		0.388	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	C	NM_014473		61694524	-1	no_errors	ENST00000199320	ensembl	human	known	70_37	silent	SNP	0.999	A	A	61694524	C	A	61694524	2	1	153	1	0	0	0	0	0	0	0	1	4533	813	29	3		3	DIMT1L	5	61694524	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7076337	61694524	119220736	376	26350	155	2								
DIMT1L	27292	genome.wustl.edu	37	chr5	61694532	61694532	+	Missense_Mutation	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaatctgttttcagcacatCacccaccagtacttgaagtt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:61694532C>T	ENST00000199320.4	-	5	497	c.337G>A	c.(337-339)Gat>Aat	p.D113N	DIMT1_ENST00000506390.1_Missense_Mutation_p.D113N|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	113						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										TTCAGCACATCACCCACCAGT	0.378																																																	0													105	102	103					5																	61694532		2203	4300	6503	SO:0001583	missense	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.337G>A	5.37:g.61694532C>T	ENSP00000199320:p.Asp113Asn		O76025|Q9BU77|Q9UES1	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.D113N	ENST00000199320.4	37	c.337	CCDS3981.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.425421	0.96131	.	.	ENSG00000086189	ENST00000199320;ENST00000506390	T;T	0.61980	0.06;0.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86499	0.1802	10	0.59425	D	0.04	-24.1658	20.8598	0.99761	0.0:1.0:0.0:0.0	.	113	Q9UNQ2	DIM1_HUMAN	N	113	ENSP00000199320:D113N;ENSP00000421754:D113N	ENSP00000199320:D113N	D	-	1	0	DIMT1L	61730289	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAT	DIMT1	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase		0.378	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	C	NM_014473		61694532	-1	no_errors	ENST00000199320	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61694532	C	T	61694532	3	4	153	1	0	0	0	0	1	0	0	0	4533	826	29	1	636	1	DIMT1L	5	61694532	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8	61694532	119220728	377	26351	155	2								
IPO11	51194	genome.wustl.edu	37	chr5	61822025	61822025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgctcccagttattcaactGagtacagatgtttcacagcc	7	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:61822025G>A	ENST00000325324.6	+	21	2122	c.1953G>A	c.(1951-1953)ctG>ctA	p.L651L	IPO11_ENST00000409296.3_Silent_p.L691L|KIF2A_ENST00000509663.2_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	651					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTATTCAACTGAGTACAGATG	0.363																																																	0													127	120	122					5																	61822025		2203	4300	6503	SO:0001819	synonymous_variant	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1953G>A	5.37:g.61822025G>A			A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L691	ENST00000325324.6	37	c.2073	CCDS34167.1	5																																																																																			IPO11	-	superfamily_ARM-type_fold		0.363	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	G	NM_016338		61822025	1	no_errors	ENST00000409296	ensembl	human	known	70_37	silent	SNP	1.000	A	A	61822025	G	A	61822025	2	1	153	1	0	0	0	0	0	0	0	1	7813	1277	45	1		1	IPO11	5	61822025	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	127493	61822025	119093235	378	26352										
ERBB2IP	55914	genome.wustl.edu	37	chr5	65370955	65370955	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtggcaaggcatccctctaGagaacaactaattgattact	8	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:65370955G>C	ENST00000284037.5	+	23	4249	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R1235T|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R1246T|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R1246T|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R485T|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R1242T|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R1294T|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R1246T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1287					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATCCCTCTAGAGAACAACTA	0.488																																																	0													116	118	118					5																	65370955		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3860G>C	5.37:g.65370955G>C	ENSP00000284037:p.Arg1287Thr		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R1287T	ENST00000284037.5	37	c.3860	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614986	0.66672	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.42513	1.32;1.33;1.34;1.24;0.97;1.03;1.33;1.32	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.981;1.0;0.999;1.0;0.993;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.966;0.998;0.994;0.996;0.977;0.991;0.996	T	0.61496	-0.7051	10	0.72032	D	0.01	.	20.3065	0.98633	0.0:0.0:1.0:0.0	.	485;1246;1294;1294;1242;1287;1246	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	T	1287;1246;485;1235;1246;1246;1242;1294;124	ENSP00000284037:R1287T;ENSP00000370330:R1246T;ENSP00000397833:R485T;ENSP00000370326:R1235T;ENSP00000370323:R1246T;ENSP00000370325:R1246T;ENSP00000422766:R1242T;ENSP00000426632:R1294T	ENSP00000284037:R1287T	R	+	2	0	ERBB2IP	65406711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.809000	0.96659	0.650000	0.86243	AGA	ERBB2IP	-	NULL		0.488	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65370955	1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65370955	G	C	65370955	3	2	153	1	0	0	0	0	1	0	0	0	5219	942	33	1	3815	1	ERBB2IP	5	65370955	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3548930	65370955	115544305	379	26353										
SFRS12	140890	genome.wustl.edu	37	chr5	65458257	65458257	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttagacaacgacagctgatCaactacttgaattttttaaa	5	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:65458257C>A	ENST00000380918.3	+	6	904	c.244C>A	c.(244-246)Caa>Aaa	p.Q82K	SREK1_ENST00000334121.6_Missense_Mutation_p.Q198K|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	82	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GACAGCTGATCAACTACTTGA	0.348																																					GBM(10;31 347 27684 38976 41583)												0													69	73	72					5																	65458257		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.244C>A	5.37:g.65458257C>A	ENSP00000370305:p.Gln82Lys		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q198K	ENST00000380918.3	37	c.592	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755955	0.69648	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.08102	3.13;3.13	5.48	5.48	0.80851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050039	0.85682	D	0.000000	T	0.19327	0.0464	N	0.25201	0.72	0.54753	D	0.999985	D;D;P	0.71674	0.998;0.963;0.954	D;D;D	0.80764	0.994;0.973;0.954	T	0.01920	-1.1247	10	0.59425	D	0.04	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	82;82;198	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	K	198;198;82	ENSP00000334538:Q198K;ENSP00000370305:Q82K	ENSP00000334538:Q198K	Q	+	1	0	SREK1	65494013	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.336000	0.79245	2.724000	0.93272	0.655000	0.94253	CAA	SREK1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.348	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	C	NM_001077199		65458257	1	no_errors	ENST00000334121	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65458257	C	A	65458257	3	1	153	1	0	0	0	0	1	0	0	0	14197	827	29	3	610	3	SFRS12	5	65458257	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	87302	65458257	115457003	380	26354										
BDP1	55814	genome.wustl.edu	37	chr5	70805710	70805710	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaatagacaaagatttggaaGaagctggaagaagagaaata	11	2	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:70805710G>A	ENST00000358731.4	+	17	3054	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	931	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATTTGGAAGAAGCTGGAAG	0.448																																																	0													78	79	79					5																	70805710		1859	4091	5950	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2791G>A	5.37:g.70805710G>A	ENSP00000351575:p.Glu931Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E931K	ENST00000358731.4	37	c.2791	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710981	0.48517	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19532	2.14	3.05	2.17	0.27698	.	.	.	.	.	T	0.37972	0.1023	M	0.66939	2.045	0.22803	N	0.998714	P;D;D	0.71674	0.703;0.998;0.989	B;D;P	0.80764	0.145;0.994;0.796	T	0.08289	-1.0729	9	0.38643	T	0.18	.	6.1337	0.20219	0.1415:0.0:0.8585:0.0	.	931;931;931	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	931;511	ENSP00000351575:E931K	ENSP00000351575:E931K	E	+	1	0	BDP1	70841466	0.163000	0.22920	0.010000	0.14722	0.133000	0.20885	2.083000	0.41615	0.856000	0.35383	0.467000	0.42956	GAA	BDP1	-	NULL		0.448	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70805710	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.019	A	A	70805710	G	A	70805710	3	1	153	1	0	0	0	0	1	0	0	0	1396	943	33	1	2857	1	BDP1	5	70805710	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5347453	70805710	110109550	381	26355										
BDP1	55814	genome.wustl.edu	37	chr5	70806877	70806877	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaacagacatttctccaaggGaaaacgagctagaggagacc	10	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:70806877G>C	ENST00000358731.4	+	17	4221	c.3958G>C	c.(3958-3960)Gaa>Caa	p.E1320Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1320	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTCTCCAAGGGAAAACGAGCT	0.408																																																	0													106	102	103					5																	70806877		1904	4124	6028	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3958G>C	5.37:g.70806877G>C	ENSP00000351575:p.Glu1320Gln		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1320Q	ENST00000358731.4	37	c.3958	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717668	0.30413	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19806	2.12	3.14	0.0384	0.14200	.	1.279340	0.05652	N	0.585444	T	0.16981	0.0408	L	0.29908	0.895	0.19775	N	0.999952	P;P;P	0.52316	0.728;0.902;0.952	B;B;B	0.44133	0.33;0.442;0.385	T	0.21999	-1.0229	10	0.49607	T	0.09	.	5.3933	0.16255	0.4619:0.0:0.5381:0.0	.	1320;1320;1320	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Q	1320;900	ENSP00000351575:E1320Q	ENSP00000351575:E1320Q	E	+	1	0	BDP1	70842633	0.901000	0.30685	0.020000	0.16555	0.085000	0.17905	0.122000	0.15687	-0.004000	0.14419	0.462000	0.41574	GAA	BDP1	-	NULL		0.408	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70806877	1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.030	C	C	70806877	G	C	70806877	3	2	153	1	0	0	0	0	1	0	0	0	1396	1175	41	1	4024	1	BDP1	5	70806877	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1167	70806877	110108383	382	26356										
MAP1B	4131	genome.wustl.edu	37	chr5	71411577	71411577	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcaacttggaccaagaactCaaactttttgtatctcgaca	6	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:71411577C>G	ENST00000296755.7	+	2	535	c.237C>G	c.(235-237)ctC>ctG	p.L79L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	79					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAGAACTCAAACTTTTTG	0.463																																					Melanoma(17;367 822 11631 31730 47712)												0													151	137	141					5																	71411577		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.237C>G	5.37:g.71411577C>G			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.L79	ENST00000296755.7	37	c.237	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71411577	1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	1.000	G	G	71411577	C	G	71411577	2	3	153	1	0	0	0	0	0	0	0	1	9251	813	29	1		1	MAP1B	5	71411577	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	604700	71411577	109503683	383	26357										
HMGCR	3156	genome.wustl.edu	37	chr5	74655364	74655364	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgggaccaacctactacctCagcaagcctgtttgcaggta	10	12	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:74655364C>T	ENST00000287936.4	+	18	2596	c.2440C>T	c.(2440-2442)Cag>Tag	p.Q814*	HMGCR_ENST00000343975.5_Nonsense_Mutation_p.Q761*|HMGCR_ENST00000511206.1_Nonsense_Mutation_p.Q814*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	814	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCTACTACCTCAGCAAGCCTG	0.453																																																	0													67	70	69					5																	74655364		2203	4300	6503	SO:0001587	stop_gained	3156				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2440C>T	5.37:g.74655364C>T	ENSP00000287936:p.Gln814*		B7Z3Y9|Q8N190	Nonsense_Mutation	SNP	pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	p.Q814*	ENST00000287936.4	37	c.2440	CCDS4027.1	5	.	.	.	.	.	.	.	.	.	.	C	40	7.981769	0.98594	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.1179	17.8149	0.88628	0.0:1.0:0.0:0.0	.	.	.	.	X	814;745;814;761;191	.	ENSP00000287936:Q814X	Q	+	1	0	HMGCR	74691120	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.602000	0.82796	2.416000	0.81992	0.655000	0.94253	CAG	HMGCR	-	pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc		0.453	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	C			74655364	1	no_errors	ENST00000287936	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74655364	C	T	74655364	4	4	153	1	0	0	0	0	0	1	0	0	7251	827	29	1	2506	1	HMGCR	5	74655364	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3243787	74655364	106259896	384	26358										
SV2C	22987	genome.wustl.edu	37	chr5	75621353	75621353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgtgcctgcctgacacacGaacccaggttctgatgtaat	10	12	1	2	rs574806183		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:75621353G>A	ENST00000502798.2	+	13	2607	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	722					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCTGACACACGAACCCAGGTT	0.522																																																	0													105	104	104					5																	75621353		2020	4185	6205	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.2165G>A	5.37:g.75621353G>A	ENSP00000423541:p.Arg722Gln		Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.R722Q	ENST00000502798.2	37	c.2165	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517590	0.85495	.	.	ENSG00000122012	ENST00000502798	T	0.58210	0.35	5.62	4.7	0.59300	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126377	0.52532	N	0.000079	T	0.57844	0.2081	L	0.58669	1.825	0.80722	D	1	D	0.54397	0.966	P	0.49953	0.627	T	0.61222	-0.7106	10	0.56958	D	0.05	-5.0779	13.314	0.60397	0.082:0.0:0.918:0.0	.	722	Q496J9	SV2C_HUMAN	Q	722	ENSP00000423541:R722Q	ENSP00000423541:R722Q	R	+	2	0	SV2C	75657109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.733000	0.62036	1.239000	0.43787	0.561000	0.74099	CGA	SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.522	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	G			75621353	1	no_errors	ENST00000502798	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75621353	G	A	75621353	3	1	153	1	0	0	0	0	1	0	0	0	15449	1058	37	1	2211	1	SV2C	5	75621353	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	965989	75621353	105293907	385	26359										
IQGAP2	10788	genome.wustl.edu	37	chr5	75896663	75896663	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttggcccacgaggagcttttGattgctgtggaaatgttgtc	13	7	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:75896663G>C	ENST00000274364.6	+	11	1395	c.1098G>C	c.(1096-1098)ttG>ttC	p.L366F	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	366					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGAGCTTTTGATTGCTGTGG	0.463																																																	0													151	135	141					5																	75896663		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1098G>C	5.37:g.75896663G>C	ENSP00000274364:p.Leu366Phe		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L366F	ENST00000274364.6	37	c.1098	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	6.109	0.388378	0.11581	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.07327	3.2;3.2;3.2	5.55	1.42	0.22433	.	0.553805	0.19759	N	0.106711	T	0.02970	0.0088	N	0.11427	0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38887	-0.9640	10	0.08837	T	0.75	-0.9293	2.8479	0.05549	0.0851:0.2194:0.3654:0.3301	.	366	Q13576	IQGA2_HUMAN	F	366;339;316	ENSP00000274364:L366F;ENSP00000423672:L339F;ENSP00000421097:L316F	ENSP00000274364:L366F	L	+	3	2	IQGAP2	75932419	0.021000	0.18746	0.822000	0.32727	0.975000	0.68041	0.136000	0.15974	0.766000	0.33244	0.563000	0.77884	TTG	IQGAP2	-	NULL		0.463	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75896663	1	no_errors	ENST00000274364	ensembl	human	known	70_37	missense	SNP	0.959	C	C	75896663	G	C	75896663	3	2	153	1	0	0	0	0	1	0	0	0	7835	1281	45	1	1140	1	IQGAP2	5	75896663	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	275310	75896663	105018597	386	26360										
AGGF1	55109	genome.wustl.edu	37	chr5	76331488	76331488	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctaaagaccatttacaagtaGaaaatgatgcttaccctggt	7	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:76331488G>C	ENST00000312916.7	+	3	818	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	AGGF1_ENST00000503538.1_3'UTR|AGGF1_ENST00000506806.1_Missense_Mutation_p.E146Q	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	146					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTTACAAGTAGAAAATGATGC	0.338																																																	0													91	93	92					5																	76331488		2203	4299	6502	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.436G>C	5.37:g.76331488G>C	ENSP00000316109:p.Glu146Gln		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.E146Q	ENST00000312916.7	37	c.436	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942150	0.53079	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.80393	1.19;-1.37	5.96	5.96	0.96718	.	0.706711	0.14398	N	0.322066	T	0.81108	0.4754	L	0.40543	1.245	0.20196	N	0.999929	B;D	0.57257	0.201;0.979	B;P	0.52957	0.063;0.714	T	0.70908	-0.4744	10	0.12766	T	0.61	-6.5197	17.5751	0.87946	0.0:0.0:1.0:0.0	.	146;146	Q8N302;Q8N302-3	AGGF1_HUMAN;.	Q	146	ENSP00000316109:E146Q;ENSP00000424733:E146Q	ENSP00000316109:E146Q	E	+	1	0	AGGF1	76367244	0.026000	0.19158	0.600000	0.28864	0.058000	0.15608	0.841000	0.27613	2.831000	0.97527	0.650000	0.86243	GAA	AGGF1	-	NULL		0.338	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	G	NM_018046		76331488	1	no_errors	ENST00000312916	ensembl	human	known	70_37	missense	SNP	0.521	C	C	76331488	G	C	76331488	3	2	153	1	0	0	0	0	1	0	0	0	382	943	33	1	446	1	AGGF1	5	76331488	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	434825	76331488	104583772	387	26361										
SERINC5	256987	genome.wustl.edu	37	chr5	79465309	79465309	+	Silent	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagtggcaatggaatacatGatgagcgtcaccagggccag							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:79465309G>A	ENST00000507668.2	-	6	762	c.612C>T	c.(610-612)atC>atT	p.I204I	SERINC5_ENST00000509193.1_Silent_p.I204I|SERINC5_ENST00000512721.1_Silent_p.I204I|SERINC5_ENST00000512972.2_Silent_p.I204I	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	204					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TGGAATACATGATGAGCGTCA	0.507																																																	0													70	71	70					5																	79465309		2015	4174	6189	SO:0001819	synonymous_variant	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.612C>T	5.37:g.79465309G>A			B4DMH7|Q495A4|Q495A6	Silent	SNP	pfam_TMS_TDE	p.I204	ENST00000507668.2	37	c.612	CCDS54873.1	5																																																																																			SERINC5	-	pfam_TMS_TDE		0.507	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		G	NM_178276		79465309	-1	no_errors	ENST00000509193	ensembl	human	known	70_37	silent	SNP	1.000	A	A	79465309	G	A	79465309	2	1	153	1	0	0	0	0	0	0	0	1	14113	1280	45	1		1	SERINC5	5	79465309	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3133821	79465309	101449951	388	26362	156	2								
SERINC5	256987	genome.wustl.edu	37	chr5	79465312	79465312	+	Silent	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggcaatggaatacatgatGagcgtcaccagggccaggga							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:79465312G>A	ENST00000507668.2	-	6	759	c.609C>T	c.(607-609)ctC>ctT	p.L203L	SERINC5_ENST00000509193.1_Silent_p.L203L|SERINC5_ENST00000512721.1_Silent_p.L203L|SERINC5_ENST00000512972.2_Silent_p.L203L	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	203					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AATACATGATGAGCGTCACCA	0.502																																																	0													68	70	69					5																	79465312		2025	4179	6204	SO:0001819	synonymous_variant	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.609C>T	5.37:g.79465312G>A			B4DMH7|Q495A4|Q495A6	Silent	SNP	pfam_TMS_TDE	p.L203	ENST00000507668.2	37	c.609	CCDS54873.1	5																																																																																			SERINC5	-	pfam_TMS_TDE		0.502	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		G	NM_178276		79465312	-1	no_errors	ENST00000509193	ensembl	human	known	70_37	silent	SNP	0.405	A	A	79465312	G	A	79465312	2	1	153	1	0	0	0	0	0	0	0	1	14113	1277	45	1		1	SERINC5	5	79465312	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3	79465312	101449948	389	26363	156	2								
VCAN	1462	genome.wustl.edu	37	chr5	82834631	82834631	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggaggaagatttcagtggtGactttagagaatactcaaca	11	5	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:82834631G>A	ENST00000265077.3	+	8	6374	c.5809G>A	c.(5809-5811)Gac>Aac	p.D1937N	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.D950N|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1937	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTCAGTGGTGACTTTAGAGA	0.438																																																	0													82	84	83					5																	82834631		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5809G>A	5.37:g.82834631G>A	ENSP00000265077:p.Asp1937Asn		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.D1937N	ENST00000265077.3	37	c.5809	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876633	0.91664	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86432	-2.09;-2.12;2.96	5.81	5.81	0.92471	.	0.206931	0.34555	N	0.003874	D	0.91449	0.7301	M	0.71581	2.175	0.80722	D	1	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	D	0.91178	0.4974	10	0.51188	T	0.08	.	17.8631	0.88787	0.0:0.0:1.0:0.0	.	950;1937	P13611-2;P13611	.;CSPG2_HUMAN	N	1937;950;950	ENSP00000265077:D1937N;ENSP00000340062:D950N;ENSP00000426251:D950N	ENSP00000265077:D1937N	D	+	1	0	VCAN	82870387	0.830000	0.29337	0.999000	0.59377	0.803000	0.45373	1.302000	0.33459	2.759000	0.94783	0.591000	0.81541	GAC	VCAN	-	NULL		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82834631	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.998	A	A	82834631	G	A	82834631	3	1	153	1	0	0	0	0	1	0	0	0	17169	1290	45	1	5835	1	VCAN	5	82834631	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3369319	82834631	98080629	390	26364										
GPR98	84059	genome.wustl.edu	37	chr5	90079012	90079012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttatggctatgtgacagctGatttcatctctcagagctcc	8	11	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:90079012G>A	ENST00000405460.2	+	66	13399	c.13303G>A	c.(13303-13305)Gat>Aat	p.D4435N	GPR98_ENST00000425867.2_Missense_Mutation_p.D96N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4435	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGACAGCTGATTTCATCTC	0.448																																																	0													186	184	184					5																	90079012		2035	4193	6228	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13303G>A	5.37:g.90079012G>A	ENSP00000384582:p.Asp4435Asn		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D4435N	ENST00000405460.2	37	c.13303	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438298	0.43326	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28666	1.6;1.6	6.17	5.31	0.75309	Na-Ca exchanger/integrin-beta4 (2);	0.308092	0.40728	N	0.001025	T	0.34395	0.0896	L	0.61036	1.89	0.34311	D	0.685476	B;B;B	0.14012	0.009;0.002;0.007	B;B;B	0.17433	0.018;0.004;0.016	T	0.41251	-0.9519	10	0.36615	T	0.2	.	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	96;4435;96	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	4435;4435;96	ENSP00000384582:D4435N;ENSP00000392618:D96N	ENSP00000296619:D4435N	D	+	1	0	GPR98	90114768	0.998000	0.40836	0.584000	0.28653	0.429000	0.31625	3.373000	0.52394	1.627000	0.50400	0.655000	0.94253	GAT	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90079012	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.978	A	A	90079012	G	A	90079012	3	1	153	1	0	0	0	0	1	0	0	0	6741	1290	45	1	13565	1	GPR98	5	90079012	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7244381	90079012	90836248	391	26365										
POU5F2	134187	genome.wustl.edu	37	chr5	93077198	93077198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgtcaacccgcaggggcatCggccctctggggccgccccc	14	18	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:93077198C>T	ENST00000510627.4	-	1	145	c.72G>A	c.(70-72)ccG>ccA	p.P24P	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	24					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GCAGGGGCATCGGCCCTCTGG	0.701																																																	0													15	19	18					5																	93077198		1913	4106	6019	SO:0001819	synonymous_variant	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.72G>A	5.37:g.93077198C>T			Q15169|Q6MZL7|Q8N748	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P24	ENST00000510627.4	37	c.72	CCDS59489.1	5																																																																																			POU5F2	-	NULL		0.701	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	C	NM_153216		93077198	-1	no_errors	ENST00000510627	ensembl	human	known	70_37	silent	SNP	0.000	T	T	93077198	C	T	93077198	2	4	153	1	0	0	0	0	0	0	0	1	12307	871	31	1		1	POU5F2	5	93077198	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2998186	93077198	87838062	392	26366										
ANKRD32	84250	genome.wustl.edu	37	chr5	94006606	94006606	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggaaaggcaatgcttcttGaaattttttggtcaggaagt	11	5	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:94006606G>C	ENST00000265140.5	+	14	2139	c.1720G>C	c.(1720-1722)Gaa>Caa	p.E574Q		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	574						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AATGCTTCTTGAAATTTTTTG	0.323																																																	0													93	86	88					5																	94006606		692	1591	2283	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1720G>C	5.37:g.94006606G>C	ENSP00000265140:p.Glu574Gln		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E574Q	ENST00000265140.5	37	c.1720	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662650	0.47572	.	.	ENSG00000133302	ENST00000265140	T	0.44482	0.92	5.34	4.46	0.54185	.	0.142714	0.32386	N	0.006173	T	0.33235	0.0856	L	0.44542	1.39	0.25525	N	0.987331	P	0.43750	0.816	B	0.42282	0.382	T	0.20438	-1.0275	10	0.33141	T	0.24	.	7.1912	0.25826	0.2742:0.0:0.7258:0.0	.	574	Q9BQI6	ANR32_HUMAN	Q	574	ENSP00000265140:E574Q	ENSP00000265140:E574Q	E	+	1	0	ANKRD32	94032362	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.614000	0.54160	2.491000	0.84063	0.655000	0.94253	GAA	ANKRD32	-	NULL		0.323	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	G	NM_032290		94006606	1	no_errors	ENST00000265140	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94006606	G	C	94006606	3	2	153	1	0	0	0	0	1	0	0	0	660	1291	45	1	1770	1	ANKRD32	5	94006606	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	929408	94006606	86908654	393	26367										
RHOBTB3	22836	genome.wustl.edu	37	chr5	95128826	95128826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatgtacttgaagcagcttgCggaatacaggaagtatattc	10	6	0	1	rs148767115		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:95128826C>T	ENST00000379982.3	+	12	2292	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	595	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGCAGCTTGCGGAATACAGG	0.363																																																	0								C	VAL/ALA	0,4406		0,0,2203	120	117	118		1784	6.2	1	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHOBTB3	NM_014899.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	595/612	95128826	1,13005	2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1784C>T	5.37:g.95128826C>T	ENSP00000369318:p.Ala595Val		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A595V	ENST00000379982.3	37	c.1784	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220119	0.79464	0.0	1.16E-4	ENSG00000164292	ENST00000379982;ENST00000504179	T;T	0.74632	-0.11;-0.86	6.17	6.17	0.99709	.	0.207799	0.51477	D	0.000092	T	0.73450	0.3588	L	0.44542	1.39	0.80722	D	1	D	0.58268	0.982	P	0.44772	0.46	T	0.74711	-0.3573	10	0.54805	T	0.06	-17.23	20.4745	0.99168	0.0:1.0:0.0:0.0	.	595	O94955	RHBT3_HUMAN	V	595;226	ENSP00000369318:A595V;ENSP00000422360:A226V	ENSP00000369318:A595V	A	+	2	0	RHOBTB3	95154582	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.662000	0.61525	2.941000	0.99782	0.655000	0.94253	GCG	RHOBTB3	-	NULL		0.363	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95128826	1	no_errors	ENST00000379982	ensembl	human	known	70_37	missense	SNP	0.998	T	T	95128826	C	T	95128826	3	4	153	1	0	0	0	0	1	0	0	0	13365	768	27	2	1830	2	RHOBTB3	5	95128826	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1122220	95128826	85786434	394	26368										
LNPEP	4012	genome.wustl.edu	37	chr5	96350789	96350789	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggatacatggatctggcctCaagactggtggtaagtctgc	14	8	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:96350789C>G	ENST00000231368.5	+	13	3058	c.2366C>G	c.(2365-2367)tCa>tGa	p.S789*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.S775*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	789					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GATCTGGCCTCAAGACTGGTG	0.428																																																	0													91	83	85					5																	96350789		2203	4300	6503	SO:0001587	stop_gained	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2366C>G	5.37:g.96350789C>G	ENSP00000231368:p.Ser789*		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S789*	ENST00000231368.5	37	c.2366	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.336153	0.97485	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.55	2.55	0.30701	.	0.642251	0.16874	N	0.195964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	5.586	0.17275	0.2078:0.5592:0.16:0.073	.	.	.	.	X	789;775	.	ENSP00000231368:S789X	S	+	2	0	LNPEP	96376545	0.485000	0.25972	1.000000	0.80357	0.034000	0.12701	0.497000	0.22514	1.345000	0.45676	-0.137000	0.14449	TCA	LNPEP	-	NULL		0.428	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	C	NM_005575		96350789	1	no_errors	ENST00000231368	ensembl	human	known	70_37	nonsense	SNP	0.657	G	G	96350789	C	G	96350789	4	3	153	1	0	0	0	0	0	1	0	0	8885	838	29	1	2416	1	LNPEP	5	96350789	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1221963	96350789	84564471	395	26369										
RIOK2	55781	genome.wustl.edu	37	chr5	96506914	96506914	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatagcaagtacgtaccactCagcattgggatgagaagttg	11	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:96506914C>G	ENST00000283109.3	-	6	843	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.E259Q	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	259							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ACGTACCACTCAGCATTGGGA	0.358																																																	0													65	61	63					5																	96506914		2203	4300	6503	SO:0001583	missense	55781			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.775G>C	5.37:g.96506914C>G	ENSP00000283109:p.Glu259Gln		D6RDI3|Q9NUT0	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase	p.E259Q	ENST00000283109.3	37	c.775	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779431	0.70107	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.07114	3.22;3.22	5.17	4.29	0.51040	Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.45470	1.425	0.80722	D	1	P;P	0.49696	0.927;0.877	P;P	0.54706	0.759;0.74	T	0.00466	-1.1722	10	0.46703	T	0.11	.	13.7336	0.62804	0.0:0.9231:0.0:0.0769	.	259;259	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	Q	259	ENSP00000283109:E259Q;ENSP00000420932:E259Q	ENSP00000283109:E259Q	E	-	1	0	RIOK2	96532670	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.403000	0.59729	2.417000	0.82017	0.591000	0.81541	GAG	RIOK2	-	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase		0.358	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	HGNC	protein_coding	OTTHUMT00000250628.1	C	NM_018343		96506914	-1	no_errors	ENST00000283109	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96506914	C	G	96506914	3	3	153	1	0	0	0	0	1	0	0	0	13408	835	29	1	931	1	RIOK2	5	96506914	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	156125	96506914	84408346	396	26370										
CHD1	1105	genome.wustl.edu	37	chr5	98204255	98204255	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcagaaatgggaactggttCaccacttgccgtgatatgaa	10	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:98204255C>T	ENST00000284049.3	-	30	4341	c.4192G>A	c.(4192-4194)Gaa>Aaa	p.E1398K	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1398					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGAACTGGTTCACCACTTGCC	0.383																																																	0													129	130	130					5																	98204255		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4192G>A	5.37:g.98204255C>T	ENSP00000284049:p.Glu1398Lys		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1398K	ENST00000284049.3	37	c.4192	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268793	0.80469	.	.	ENSG00000153922	ENST00000284049	D	0.90788	-2.73	5.32	5.32	0.75619	.	0.000000	0.34156	U	0.004217	D	0.88407	0.6428	M	0.62723	1.935	0.80722	D	1	P	0.37781	0.608	B	0.29862	0.108	D	0.87554	0.2467	10	0.34782	T	0.22	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	1398	O14646	CHD1_HUMAN	K	1398	ENSP00000284049:E1398K	ENSP00000284049:E1398K	E	-	1	0	CHD1	98232155	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.419000	0.80179	2.671000	0.90904	0.655000	0.94253	GAA	CHD1	-	NULL		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	C	NM_001270		98204255	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98204255	C	T	98204255	3	4	153	1	0	0	0	0	1	0	0	0	3328	835	29	1	964	1	CHD1	5	98204255	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1697341	98204255	82711005	397	26371										
APC	324	genome.wustl.edu	37	chr5	112174700	112174700	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcaagaagatgactatgaaGatgataagcctaccaattat	8	6	1	6			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:112174700G>A	ENST00000457016.1	+	16	3789	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N	APC_ENST00000508376.2_Missense_Mutation_p.D1137N|APC_ENST00000257430.4_Missense_Mutation_p.D1137N|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1137	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1137H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGACTATGAAGATGATAAGCC	0.363		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Missense(1)|Unknown(1)	cervix(1)|skin(1)											69	64	66					5																	112174700		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3409G>A	5.37:g.112174700G>A	ENSP00000413133:p.Asp1137Asn		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D1137N	ENST00000457016.1	37	c.3409	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677682	0.68042	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.76	5.76	0.90799	.	0.167671	0.52532	D	0.000078	D	0.85843	0.5791	N	0.24115	0.695	0.48288	D	0.99962	B;P	0.44344	0.003;0.833	B;P	0.47891	0.021;0.56	D	0.85455	0.1163	10	0.39692	T	0.17	-22.4703	15.1528	0.72713	0.0694:0.0:0.9306:0.0	.	1139;1137	Q4LE70;P25054	.;APC_HUMAN	N	1137;1119;1137;1137;1137	ENSP00000413133:D1137N;ENSP00000423224:D1119N;ENSP00000257430:D1137N;ENSP00000427089:D1137N;ENSP00000423828:D1137N	ENSP00000257430:D1137N	D	+	1	0	APC	112202599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.732000	0.93576	0.655000	0.94253	GAT	APC	-	pfam_APC_15aa_rpt		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112174700	1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112174700	G	A	112174700	3	1	153	1	0	0	0	0	1	0	0	0	763	942	33	1	3467	1	APC	5	112174700	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	13970445	112174700	68740560	398	26372										
PGGT1B	5229	genome.wustl.edu	37	chr5	114598462	114598462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaacctggaggcagcgctgGaaaaatcgcacgtgccgatc	12	11	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:114598462G>A	ENST00000419445.1	-	1	107	c.87C>T	c.(85-87)ttC>ttT	p.F29F	CTC-428G20.6_ENST00000606615.1_RNA|PGGT1B_ENST00000379615.3_Silent_p.F29F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	29					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		GGCAGCGCTGGAAAAATCGCA	0.617																																																	0													36	34	35					5																	114598462		2202	4300	6502	SO:0001819	synonymous_variant	5229				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.87C>T	5.37:g.114598462G>A			Q5MJP9	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.F29	ENST00000419445.1	37	c.87	CCDS4116.1	5																																																																																			PGGT1B	-	superfamily_Terpenoid_cyclase/PrenylTrfase		0.617	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGGT1B	HGNC	protein_coding	OTTHUMT00000250855.2	G	NM_005023		114598462	-1	no_errors	ENST00000419445	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114598462	G	A	114598462	2	1	153	1	0	0	0	0	0	0	0	1	11813	1165	41	1		1	PGGT1B	5	114598462	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2423762	114598462	66316798	399	26373										
CCDC112	153733	genome.wustl.edu	37	chr5	114611699	114611699	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttaaaacatacatcaacctCtgctcttctttaaaagtgtt	3	9	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:114611699C>G	ENST00000512261.1	-	6	686	c.270G>C	c.(268-270)caG>caC	p.Q90H	CCDC112_ENST00000395557.4_Missense_Mutation_p.Q90H|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q173H|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q90H			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	90										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ACATCAACCTCTGCTCTTCTT	0.284																																																	0													74	78	77					5																	114611699		2199	4293	6492	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.270G>C	5.37:g.114611699C>G	ENSP00000423712:p.Gln90His		Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.Q173H	ENST00000512261.1	37	c.519	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256059	0.59321	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.23552	1.94;1.9;1.91;1.9	5.58	2.84	0.33178	.	0.052906	0.85682	D	0.000000	T	0.43942	0.1270	M	0.61703	1.905	0.30287	N	0.790723	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.939;0.939;0.987	T	0.44019	-0.9355	10	0.66056	D	0.02	-12.0063	9.5867	0.39521	0.0:0.7221:0.0:0.2779	.	90;173;90	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	H	173;90;90;90	ENSP00000368931:Q173H;ENSP00000423712:Q90H;ENSP00000424876:Q90H;ENSP00000378925:Q90H	ENSP00000368931:Q173H	Q	-	3	2	CCDC112	114639598	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.712000	0.37940	0.306000	0.22856	0.460000	0.39030	CAG	CCDC112	-	NULL		0.284	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	C	NM_152549		114611699	-1	no_errors	ENST00000379611	ensembl	human	known	70_37	missense	SNP	0.998	G	G	114611699	C	G	114611699	3	3	153	1	0	0	0	0	1	0	0	0	2754	912	32	1	1094	1	CCDC112	5	114611699	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	13237	114611699	66303561	400	26374										
HSD17B4	3295	genome.wustl.edu	37	chr5	118811536	118811536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagaattctgagggatcgttCctttgctaggataagtgatg	12	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:118811536C>T	ENST00000256216.6	+	6	453	c.320C>T	c.(319-321)tCc>tTc	p.S107F	HSD17B4_ENST00000515320.1_Missense_Mutation_p.S89F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S83F|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S132F|HSD17B4_ENST00000509514.1_5'Flank	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	107	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AGGGATCGTTCCTTTGCTAGG	0.294																																					Colon(35;490 801 34689 41394 43344)												0													114	112	113					5																	118811536		2202	4298	6500	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.320C>T	5.37:g.118811536C>T	ENSP00000256216:p.Ser107Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S107F	ENST00000256216.6	37	c.320	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862258	0.91511	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.54	5.54	0.83059	NAD(P)-binding domain (1);	0.119617	0.64402	D	0.000014	D	0.92450	0.7603	L	0.52266	1.64	0.80722	D	1	P;D;P;D	0.65815	0.701;0.995;0.932;0.989	P;P;P;P	0.62560	0.525;0.879;0.674;0.904	D	0.92961	0.6389	10	0.87932	D	0	-14.4444	19.0731	0.93148	0.0:1.0:0.0:0.0	.	132;89;83;107	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	F	107;89;83;132	ENSP00000256216:S107F;ENSP00000424613:S89F;ENSP00000424940:S83F;ENSP00000420914:S132F	ENSP00000256216:S107F	S	+	2	0	HSD17B4	118839435	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	7.528000	0.81941	2.607000	0.88179	0.462000	0.41574	TCC	HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR		0.294	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118811536	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118811536	C	T	118811536	3	4	153	1	0	0	0	0	1	0	0	0	7406	855	30	1	342	1	HSD17B4	5	118811536	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4199837	118811536	62103724	401	26375										
CSNK1G3	1456	genome.wustl.edu	37	chr5	122909098	122909098	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcccccagatggtatacctCaagtttactatttcggccct	6	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:122909098C>G	ENST00000361991.2	+	4	331	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	CSNK1G3_ENST00000521364.1_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000511130.2_5'UTR|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.Q26E|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.Q101E			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TGGTATACCTCAAGTTTACTA	0.338																																					Pancreas(187;2868 2964 4353 6297)												0													163	155	158					5																	122909098		2203	4300	6503	SO:0001583	missense	1456			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.301C>G	5.37:g.122909098C>G	ENSP00000354942:p.Gln101Glu		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,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.Q101E	ENST00000361991.2	37	c.301	CCDS4135.1	5	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859367	0.51376	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	4.9	4.9	0.64082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.16981	0.0408	N	0.21617	0.685	0.80722	D	1	B;B;B;B;B	0.20261	0.002;0.006;0.043;0.006;0.043	B;B;B;B;B	0.24541	0.011;0.024;0.054;0.04;0.054	T	0.06991	-1.0796	10	0.19147	T	0.46	.	18.5808	0.91170	0.0:1.0:0.0:0.0	.	26;101;101;101;101	B4DSH2;A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;KC1G3_HUMAN;.	E	101;101;101;26;101;101;101;101	ENSP00000378807:Q101E;ENSP00000378806:Q101E;ENSP00000334735:Q101E;ENSP00000421998:Q26E;ENSP00000429412:Q101E;ENSP00000423838:Q101E;ENSP00000354942:Q101E;ENSP00000353904:Q101E	ENSP00000334735:Q101E	Q	+	1	0	CSNK1G3	122936997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.740000	0.84986	2.634000	0.89283	0.655000	0.94253	CAA	CSNK1G3	-	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		0.338	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSNK1G3	HGNC	protein_coding	OTTHUMT00000250900.1	C	NM_004384		122909098	1	no_errors	ENST00000360683	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122909098	C	G	122909098	3	3	153	1	0	0	0	0	1	0	0	0	3961	827	29	1	315	1	CSNK1G3	5	122909098	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4097562	122909098	58006162	402	26376										
FBN2	2201	genome.wustl.edu	37	chr5	127704923	127704923	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggttctccaaaaccatagtCtggattggcacagcagcatt	10	10	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:127704923C>G	ENST00000508053.1	-	22	3174	c.2200G>C	c.(2200-2202)Gac>Cac	p.D734H	FBN2_ENST00000508989.1_Missense_Mutation_p.D701H|FBN2_ENST00000511489.1_5'UTR|Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000262464.4_Missense_Mutation_p.D734H			P35556	FBN2_HUMAN	fibrillin 2	734	TB 3.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAACCATAGTCTGGATTGGCA	0.478																																																	0													147	126	133					5																	127704923		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2200G>C	5.37:g.127704923C>G	ENSP00000424571:p.Asp734His		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.D734H	ENST00000508053.1	37	c.2200	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088506	0.76756	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92699	-3.09;-3.09;-2.74	4.47	4.47	0.54385	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000002	D	0.94902	0.8352	L	0.59912	1.85	0.80722	D	1	D;P	0.76494	0.999;0.918	D;P	0.75484	0.986;0.776	D	0.93679	0.6997	10	0.37606	T	0.19	.	18.4469	0.90688	0.0:1.0:0.0:0.0	.	701;734	D6RJI3;P35556	.;FBN2_HUMAN	H	734;734;701	ENSP00000262464:D734H;ENSP00000424571:D734H;ENSP00000425596:D701H	ENSP00000262464:D734H	D	-	1	0	FBN2	127732822	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.742000	0.62103	2.768000	0.95171	0.655000	0.94253	GAC	FBN2	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127704923	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127704923	C	G	127704923	3	3	153	1	0	0	0	0	1	0	0	0	5721	913	32	1	6738	1	FBN2	5	127704923	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4795825	127704923	53210337	403	26377										
RAPGEF6	51735	genome.wustl.edu	37	chr5	130883862	130883862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctttgtagaatactatcttCattatctttggcattctcta	4	8	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:130883862C>T	ENST00000509018.1	-	6	578	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E175K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E125K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E125K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E125K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E125K|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E125K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	125					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATACTATCTTCATTATCTTTG	0.343																																					Melanoma(168;435 1955 13113 13877 23213)												0													118	111	113					5																	130883862		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.373G>A	5.37:g.130883862C>T	ENSP00000421684:p.Glu125Lys		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E125K	ENST00000509018.1	37	c.373	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224337	0.58668	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.26373	1.92;1.84;1.84;1.92;1.74;2.27;2.01	5.74	5.74	0.90152	.	0.132612	0.50627	D	0.000103	T	0.23133	0.0559	L	0.51422	1.61	0.80722	D	1	P;P;P;P;P;P	0.44627	0.839;0.745;0.622;0.745;0.835;0.745	B;B;B;B;B;B	0.36567	0.114;0.114;0.164;0.114;0.228;0.114	T	0.01909	-1.1249	10	0.42905	T	0.14	.	13.1654	0.59569	0.0:0.9272:0.0:0.0728	.	125;125;125;175;125;125	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	K	125;125;125;125;125;125;125;175	ENSP00000421684:E125K;ENSP00000309298:E125K;ENSP00000426081:E125K;ENSP00000296859:E125K;ENSP00000311419:E125K;ENSP00000425389:E125K;ENSP00000426948:E175K	ENSP00000426948:E175K	E	-	1	0	RAPGEF6;FNIP1	130911761	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.086000	0.57664	2.712000	0.92718	0.650000	0.86243	GAA	RAPGEF6	-	NULL		0.343	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	C	NM_016340		130883862	-1	no_errors	ENST00000509018	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130883862	C	T	130883862	3	4	153	1	0	0	0	0	1	0	0	0	13078	835	29	1	5010	1	RAPGEF6	5	130883862	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3178939	130883862	50031398	404	26378										
CDKL3	51265	genome.wustl.edu	37	chr5	133644410	133644410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtaatttagctttcagttctGgcatgaatctgacaaaacaa	7	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:133644410G>A	ENST00000265334.4	-	8	1008	c.890C>T	c.(889-891)cCa>cTa	p.P297L	CDKL3_ENST00000523054.1_Missense_Mutation_p.P108L|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000536186.1_Missense_Mutation_p.P2L|CDKL3_ENST00000609654.1_Missense_Mutation_p.P108L|CDKL3_ENST00000435211.1_Missense_Mutation_p.P297L|CDKL3_ENST00000435240.2_Missense_Mutation_p.P2L|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000521118.1_Missense_Mutation_p.P297L|CDKL3_ENST00000523832.1_Missense_Mutation_p.P297L|CDKL3_ENST00000609383.1_Missense_Mutation_p.P2L	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	297					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCAGTTCTGGCATGAATCT	0.299																																																	0													36	34	35					5																	133644410		1828	4076	5904	SO:0001583	missense	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.890C>T	5.37:g.133644410G>A	ENSP00000265334:p.Pro297Leu		D3DQA0|D3DQA1|Q9P114	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.P297L	ENST00000265334.4	37	c.890	CCDS47264.1	5	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517580	0.64634	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74421	-0.38;-0.48;-0.78;-0.56;-0.84;-0.79;-0.79	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.80701	0.4673	L	0.32530	0.975	0.51233	D	0.999917	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997	D;D;D;D;P	0.91635	0.988;0.999;0.999;0.996;0.895	T	0.81780	-0.0776	10	0.62326	D	0.03	-23.4491	16.6591	0.85236	0.0:0.0:1.0:0.0	.	108;2;2;108;297	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	L	2;2;297;108;297;297;297	ENSP00000441545:P2L;ENSP00000399807:P2L;ENSP00000265334:P297L;ENSP00000428500:P108L;ENSP00000428689:P297L;ENSP00000430496:P297L;ENSP00000395559:P297L	ENSP00000265334:P297L	P	-	2	0	CDKL3	133672309	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.545000	0.53648	2.676000	0.91093	0.555000	0.69702	CCA	CDKL3	-	superfamily_Kinase-like_dom		0.299	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDKL3	HGNC	protein_coding	OTTHUMT00000377697.1	G	NM_001113575		133644410	-1	no_errors	ENST00000265334	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133644410	G	A	133644410	3	1	153	1	0	0	0	0	1	0	0	0	3160	1348	47	4	916	4	CDKL3	5	133644410	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2760548	133644410	47270850	405	26379										
PHF15	23338	genome.wustl.edu	37	chr5	133914845	133914845	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaccttcagctgtggctgaGaggcccaaggtcagcctgca	12	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:133914845G>C	ENST00000282605.4	+	12	2429	c.2343G>C	c.(2341-2343)gaG>gaC	p.E781D	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Missense_Mutation_p.E737D|PHF15_ENST00000361895.2_Missense_Mutation_p.E738D																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGGCTGAGAGGCCCAAGG	0.622																																																	0													68	68	68					5																	133914845		2203	4300	6503	SO:0001583	missense	23338																														ENST00000282605.4:c.2343G>C	5.37:g.133914845G>C	ENSP00000282605:p.Glu781Asp			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E797D	ENST00000282605.4	37	c.2391		5	.	.	.	.	.	.	.	.	.	.	G	7.950	0.744750	0.15710	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.52754	0.7;0.66;0.65	5.16	2.21	0.28008	.	0.220001	0.30519	N	0.009448	T	0.31389	0.0795	L	0.36672	1.1	0.26417	N	0.976166	B;B;B	0.19200	0.0;0.0;0.034	B;B;B	0.20767	0.0;0.0;0.031	T	0.13522	-1.0506	10	0.25751	T	0.34	.	5.1126	0.14817	0.2509:0.2795:0.4696:0.0	.	737;738;797	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	D	740;797;781;738;738;737	ENSP00000282605:E781D;ENSP00000354425:E738D;ENSP00000378451:E737D	ENSP00000282605:E781D	E	+	3	2	PHF15	133942744	0.801000	0.28930	0.999000	0.59377	0.867000	0.49689	-0.182000	0.09726	0.508000	0.28173	0.313000	0.20887	GAG	PHF15	-	NULL		0.622	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1	G			133914845	1	no_errors	ENST00000448712	ensembl	human	known	70_37	missense	SNP	0.996	C	C	133914845	G	C	133914845	3	2	153	1	0	0	0	0	1	0	0	0	11850	933	33	1	2249	1	PHF15	5	133914845	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	270435	133914845	47000415	406	26380										
DDX46	9879	genome.wustl.edu	37	chr5	134143547	134143547	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtctagatgtgaaacatctGattcttgtagtaaattatag	9	4	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:134143547G>C	ENST00000354283.4	+	16	2199	c.2064G>C	c.(2062-2064)ctG>ctC	p.L688L	DDX46_ENST00000452510.2_Silent_p.L688L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	688	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAAACATCTGATTCTTGTAG	0.408																																					Colon(13;391 453 4901 21675 24897)												0													78	79	79					5																	134143547		2203	4300	6503	SO:0001819	synonymous_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2064G>C	5.37:g.134143547G>C			O94894|Q96EI0|Q9Y658	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L688	ENST00000354283.4	37	c.2064	CCDS34240.1	5																																																																																			DDX46	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134143547	1	no_errors	ENST00000452510	ensembl	human	known	70_37	silent	SNP	0.831	C	C	134143547	G	C	134143547	2	2	153	1	0	0	0	0	0	0	0	1	4369	1277	45	1		1	DDX46	5	134143547	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	228702	134143547	46771713	407	26381										
SMAD5	4090	genome.wustl.edu	37	chr5	135489845	135489845	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taccactataagagagtggaGagtccaggtaggtcttattc	11	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:135489845G>C	ENST00000545279.1	+	3	756	c.396G>C	c.(394-396)gaG>gaC	p.E132D	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.E132D	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	132	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGAGTGGAGAGTCCAGGTA	0.353																																																	0													31	28	29					5																	135489845		1820	4082	5902	SO:0001583	missense	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"SMADs"	6771	protein-coding gene	gene with protein product		603110	"MAD, mothers against decapentaplegic homolog 5 (Drosophila)", "SMAD, mothers against DPP homolog 5 (Drosophila)"	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.396G>C	5.37:g.135489845G>C	ENSP00000441954:p.Glu132Asp		O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.E132D	ENST00000545279.1	37	c.396		5	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798342	0.50208	.	.	ENSG00000113658	ENST00000511116;ENST00000545279;ENST00000545620	T;T;T	0.73047	-0.71;-0.71;-0.71	5.51	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	L	0.58583	1.82	0.51767	D	0.999939	B	0.21309	0.054	B	0.32624	0.149	T	0.66228	-0.5976	10	0.48119	T	0.1	.	12.1051	0.53807	0.22:0.0:0.78:0.0	.	132	F5GWU7	.	D	132	ENSP00000424279:E132D;ENSP00000441954:E132D;ENSP00000446474:E132D	ENSP00000424279:E132D	E	+	3	2	SMAD5	135517744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.140000	0.31516	0.703000	0.31848	0.650000	0.86243	GAG	SMAD5	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.353	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		G	NM_005903		135489845	1	no_errors	ENST00000545279	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135489845	G	C	135489845	3	2	153	1	0	0	0	0	1	0	0	0	14791	933	33	1	398	1	SMAD5	5	135489845	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1346298	135489845	45425415	408	26382										
BRD8	10902	genome.wustl.edu	37	chr5	137504212	137504212	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcaagagctctgacagcaGaggggaggggggtggagttg	19	6	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137504212G>C	ENST00000254900.5	-	9	1014				BRD8_ENST00000402931.1_Intron|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.L270V|BRD8_ENST00000230901.5_Missense_Mutation_p.L270V	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGACAGCAGAGGGGAGGGG	0.537																																																	0													60	68	66					5																	137504212		2203	4300	6503	SO:0001627	intron_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.643-445C>G	5.37:g.137504212G>C			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L270V	ENST00000254900.5	37	c.808	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900972	0.52227	.	.	ENSG00000112983	ENST00000454473;ENST00000418329;ENST00000230901;ENST00000411594;ENST00000239899	T;T;T;T	0.60299	0.2;0.4;0.55;0.38	6.17	6.17	0.99709	.	.	.	.	.	T	0.67599	0.2910	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.996;0.996	D;D;D;D	0.75484	0.967;0.986;0.986;0.986	T	0.62530	-0.6835	9	0.34782	T	0.22	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	270;270;130;270	A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2	.;.;.;.	V	265;265;270;270;130	ENSP00000398067:L265V;ENSP00000398873:L265V;ENSP00000230901:L270V;ENSP00000394330:L270V	ENSP00000230901:L270V	L	-	1	2	BRD8	137532111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.071000	0.71229	2.941000	0.99782	0.655000	0.94253	CTG	BRD8	-	NULL		0.537	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	G	NM_006696		137504212	-1	no_errors	ENST00000230901	ensembl	human	known	70_37	missense	SNP	1.000	C	C	137504212	G	C	137504212	1	2	153	0	1	0	0	0	0	0	0	0	1509	933	33	1		1	BRD8	5	137504212	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2014367	137504212	43411048	409	26383										
KIF20A	10112	genome.wustl.edu	37	chr5	137520288	137520288	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcaggtatcccccagcttaGagaaaggggctaaggcagac	12	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137520288G>C	ENST00000394894.3	+	13	1832	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.E518Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	536					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCCAGCTTAGAGAAAGGGGC	0.463																																																	0													123	116	118					5																	137520288		2203	4300	6503	SO:0001583	missense	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1606G>C	5.37:g.137520288G>C	ENSP00000378356:p.Glu536Gln		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E536Q	ENST00000394894.3	37	c.1606	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637757	0.14386	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71817	-0.58;-0.6	5.1	3.29	0.37713	.	0.350783	0.20554	N	0.090054	T	0.49372	0.1553	N	0.14661	0.345	0.35783	D	0.821798	B;B	0.18741	0.012;0.03	B;B	0.19391	0.025;0.022	T	0.47736	-0.9094	10	0.37606	T	0.19	-6.5601	5.88	0.18850	0.2213:0.1418:0.637:0.0	.	518;536	B4DL79;O95235	.;KI20A_HUMAN	Q	536;518	ENSP00000378356:E536Q;ENSP00000420880:E518Q	ENSP00000378356:E536Q	E	+	1	0	KIF20A	137548187	0.965000	0.33210	0.973000	0.42090	0.618000	0.37518	1.665000	0.37449	0.700000	0.31782	0.557000	0.71058	GAG	KIF20A	-	NULL		0.463	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	G	NM_005733		137520288	1	no_errors	ENST00000394894	ensembl	human	known	70_37	missense	SNP	0.659	C	C	137520288	G	C	137520288	3	2	153	1	0	0	0	0	1	0	0	0	8306	943	33	1	1652	1	KIF20A	5	137520288	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	16076	137520288	43394972	410	26384										
KDM3B	51780	genome.wustl.edu	37	chr5	137762663	137762663	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagtattctctgtcttccaGaacgactacggtcagaagat	10	9	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137762663G>C	ENST00000314358.5	+	18	4611		c.e18-1		KDM3B_ENST00000394866.1_Splice_Site|KDM3B_ENST00000542866.1_Splice_Site	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTCTTCCAGAACGACTACG	0.453																																																	0													70	70	70					5																	137762663		2203	4300	6503	SO:0001630	splice_region_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4412-1G>C	5.37:g.137762663G>C			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Splice_Site	SNP	-	e18-1	ENST00000314358.5	37	c.4412-1	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765316	0.69878	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.33	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1586	0.65432	0.0728:0.0:0.9271:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM3B	137790562	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	1.237000	0.43756	0.655000	0.94253	.	KDM3B	-	-		0.453	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	G	NM_016604	Intron	137762663	1	no_errors	ENST00000314358	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	137762663	G	C	137762663	5	2	153	1	0	0	0	0	0	0	1	0	8147	956	33	1	4481	1	KDM3B	5	137762663	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	242375	137762663	43152597	411	26385										
KDM3B	51780	genome.wustl.edu	37	chr5	137762890	137762890	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttataggtttgaagatctGatggagaaccttcctctgcc	9	8	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137762890G>C	ENST00000314358.5	+	19	4715	c.4515G>C	c.(4513-4515)ctG>ctC	p.L1505L	KDM3B_ENST00000394866.1_Silent_p.L1161L|KDM3B_ENST00000542866.1_Silent_p.L537L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1505	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTGAAGATCTGATGGAGAACC	0.433																																																	0													91	91	91					5																	137762890		2203	4300	6503	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4515G>C	5.37:g.137762890G>C			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L1505	ENST00000314358.5	37	c.4515	CCDS34242.1	5																																																																																			KDM3B	-	smart_JmjC_dom,pfscan_JmjC_dom		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	G	NM_016604		137762890	1	no_errors	ENST00000314358	ensembl	human	known	70_37	silent	SNP	0.998	C	C	137762890	G	C	137762890	2	2	153	1	0	0	0	0	0	0	0	1	8147	1277	45	1		1	KDM3B	5	137762890	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	227	137762890	43152370	412	26386										
SIL1	64374	genome.wustl.edu	37	chr5	138282845	138282845	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagctgttgacagagcccagCagctcctggaagtagccctc	11	13	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:138282845C>G	ENST00000394817.2	-	10	1486	c.1347G>C	c.(1345-1347)ctG>ctC	p.L449L	SIL1_ENST00000509534.1_Silent_p.L456L|SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.L449L	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	449					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGAGCCCAGCAGCTCCTGGA	0.647									Marinesco-Sjgren syndrome																																								0													47	43	44					5																	138282845		2203	4300	6503	SO:0001819	synonymous_variant	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1347G>C	5.37:g.138282845C>G			D3DQC2|Q8N2L3	Silent	SNP	superfamily_ARM-type_fold	p.L449	ENST00000394817.2	37	c.1347	CCDS4209.1	5																																																																																			SIL1	-	NULL		0.647	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1	C	NM_022464		138282845	-1	no_errors	ENST00000265195	ensembl	human	known	70_37	silent	SNP	1.000	G	G	138282845	C	G	138282845	2	3	153	1	0	0	0	0	0	0	0	1	14351	697	25	4		4	SIL1	5	138282845	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	519955	138282845	42632415	413	26387										
DNAJC18	202052	genome.wustl.edu	37	chr5	138749836	138749836	+	3'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcgtaggaccattatcctCtcagccacctctgcgtaggc	9	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:138749836C>G	ENST00000302060.5	-	0	1158					NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCATTATCCTCTCAGCCACCT	0.398																																																	0													198	166	177					5																	138749836		2203	4300	6503	SO:0001624	3_prime_UTR_variant	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.*1G>C	5.37:g.138749836C>G				RNA	SNP	-	NULL	ENST00000302060.5	37	NULL	CCDS4214.1	5																																																																																			DNAJC18	-	-		0.398	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC18	HGNC	protein_coding	OTTHUMT00000374191.1	C	NM_152686		138749836	-1	no_errors	ENST00000515559	ensembl	human	putative	70_37	rna	SNP	0.494	G	G	138749836	C	G	138749836	1	3	153	0	1	0	0	0	0	0	0	0	4647	928	32	1		1	DNAJC18	5	138749836	3'UTR	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	466991	138749836	42165424	414	26388										
DNAJC18	202052	genome.wustl.edu	37	chr5	138749919	138749919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actctgctttctgtttcaatCgttcatctctgtataatcct	4	11	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:138749919C>T	ENST00000302060.5	-	8	1075	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	332						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTTTCAATCGTTCATCTCT	0.413																																																	0													245	210	222					5																	138749919		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.995G>A	5.37:g.138749919C>T	ENSP00000302843:p.Arg332Gln			Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R332Q	ENST00000302060.5	37	c.995	CCDS4214.1	5	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761070	0.89932	.	.	ENSG00000170464	ENST00000302060	T	0.41758	0.99	5.8	5.8	0.92144	Domain of unknown function DUF1977, DnaJ-like (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62544	-0.6832	10	0.51188	T	0.08	0.0062	16.7737	0.85545	0.0:1.0:0.0:0.0	.	332	Q9H819	DJC18_HUMAN	Q	332	ENSP00000302843:R332Q	ENSP00000302843:R332Q	R	-	2	0	DNAJC18	138777818	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	6.981000	0.76166	2.748000	0.94277	0.655000	0.94253	CGA	DNAJC18	-	pfam_DUF1977_DnaJ-like		0.413	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC18	HGNC	protein_coding	OTTHUMT00000374191.1	C	NM_152686		138749919	-1	no_errors	ENST00000302060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138749919	C	T	138749919	3	4	153	1	0	0	0	0	1	0	0	0	4647	884	31	1	85	1	DNAJC18	5	138749919	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	83	138749919	42165341	415	26389										
TMCO6	55374	genome.wustl.edu	37	chr5	140023709	140023709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagtcctagtttctgtacctCcttgctctccctggatctga	7	14	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140023709C>G	ENST00000394671.3	+	10	1231	c.1130C>G	c.(1129-1131)tCc>tGc	p.S377C	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Missense_Mutation_p.S137C|TMCO6_ENST00000252100.6_Missense_Mutation_p.S383C	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	377					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGTACCTCCTTGCTCTCC	0.493																																																	0													260	252	254					5																	140023709		1981	4179	6160	SO:0001583	missense	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1130C>G	5.37:g.140023709C>G	ENSP00000378166:p.Ser377Cys		Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.S383C	ENST00000394671.3	37	c.1148	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104762	0.77096	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.51325	1.49;0.71;1.49	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.342073	0.27773	N	0.017914	T	0.51041	0.1651	N	0.14661	0.345	0.37190	D	0.90388	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.62029	-0.6940	10	0.87932	D	0	-9.107	17.5096	0.87756	0.0:1.0:0.0:0.0	.	383;377	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	C	377;137;383	ENSP00000378166:S377C;ENSP00000444474:S137C;ENSP00000252100:S383C	ENSP00000252100:S383C	S	+	2	0	TMCO6	140003893	0.997000	0.39634	0.988000	0.46212	0.996000	0.88848	4.995000	0.63908	2.667000	0.90743	0.462000	0.41574	TCC	TMCO6	-	superfamily_ARM-type_fold,smart_Armadillo		0.493	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	C	NM_018502		140023709	1	no_errors	ENST00000252100	ensembl	human	known	70_37	missense	SNP	0.991	G	G	140023709	C	G	140023709	3	3	153	1	0	0	0	0	1	0	0	0	16030	855	30	1	1168	1	TMCO6	5	140023709	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1273790	140023709	40891551	416	26390										
IK	3550	genome.wustl.edu	37	chr5	140038676	140038676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgagatcgggaacgagagcGagagcgggaccgagagagag	19	7	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140038676G>A	ENST00000417647.2	+	12	1242	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	368	17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaacgagagcgagagcgggac	0.547																																																	0													71	89	83					5																	140038676		2155	4276	6431	SO:0001583	missense	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1103G>A	5.37:g.140038676G>A	ENSP00000396301:p.Arg368Gln		Q6IPD8	Missense_Mutation	SNP	pfam_RED_N,pfam_RED_C	p.R368Q	ENST00000417647.2	37	c.1103	CCDS47280.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220803	0.79464	.	.	ENSG00000113141	ENST00000417647	T	0.18502	2.21	4.6	4.6	0.57074	.	0.213014	0.30356	N	0.009818	T	0.20333	0.0489	M	0.75447	2.3	0.38048	D	0.935676	B	0.29188	0.236	B	0.20184	0.028	T	0.12372	-1.0550	10	0.13470	T	0.59	.	16.5812	0.84715	0.0:0.0:1.0:0.0	.	368	Q13123	RED_HUMAN	Q	368	ENSP00000396301:R368Q	ENSP00000396301:R368Q	R	+	2	0	IK	140018860	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	4.556000	0.60775	2.264000	0.75181	0.655000	0.94253	CGA	IK	-	NULL		0.547	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	IK	HGNC	protein_coding	OTTHUMT00000372897.1	G	NM_006083		140038676	1	no_errors	ENST00000417647	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140038676	G	A	140038676	3	1	153	1	0	0	0	0	1	0	0	0	7628	1058	37	1	1149	1	IK	5	140038676	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	14967	140038676	40876584	417	26391										
PCDHA10	56139	genome.wustl.edu	37	chr5	140237263	140237263	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgatgggggcgtgccgcctCtgggcagcaacttgacgctg	17	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140237263C>T	ENST00000307360.5	+	1	1630	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	544	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.697																																																	0													51	55	54					5																	140237263		2196	4268	6464	SO:0001819	synonymous_variant	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1630C>T	5.37:g.140237263C>T			A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L544	ENST00000307360.5	37	c.1630	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	C	NM_018901		140237263	1	no_errors	ENST00000307360	ensembl	human	known	70_37	silent	SNP	0.990	T	T	140237263	C	T	140237263	2	4	153	1	0	0	0	0	0	0	0	1	11544	912	32	1		1	PCDHA10	5	140237263	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	198587	140237263	40677997	418	26392										
PCDHB3	56132	genome.wustl.edu	37	chr5	140480724	140480724	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaggacttggatgtgggaaGaaacagcctccaaaactaca	11	8	0	2	rs371396257		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140480724G>C	ENST00000231130.2	+	1	491	c.491G>C	c.(490-492)aGa>aCa	p.R164T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGTGGGAAGAAACAGCCTC	0.463																																																	0													93	95	94					5																	140480724		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.491G>C	5.37:g.140480724G>C	ENSP00000231130:p.Arg164Thr		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R164T	ENST00000231130.2	37	c.491	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177146	0.06380	.	.	ENSG00000113205	ENST00000231130	T	0.50277	0.75	5.08	0.149	0.14863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17874	0.0429	N	0.02865	-0.47	0.09310	N	1	B	0.25667	0.131	B	0.32393	0.145	T	0.25467	-1.0131	9	0.12766	T	0.61	.	0.2185	0.00165	0.3243:0.1409:0.2476:0.2872	.	164	Q9Y5E6	PCDB3_HUMAN	T	164	ENSP00000231130:R164T	ENSP00000231130:R164T	R	+	2	0	PCDHB3	140460908	0.000000	0.05858	0.189000	0.23252	0.997000	0.91878	-3.708000	0.00387	0.011000	0.14865	0.655000	0.94253	AGA	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	G	NM_018937		140480724	1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.000	C	C	140480724	G	C	140480724	3	2	153	1	0	0	0	0	1	0	0	0	11567	942	33	1	493	1	PCDHB3	5	140480724	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	243461	140480724	40434536	419	26393										
PCDHGB1	56104	genome.wustl.edu	37	chr5	140731835	140731835	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctgcaagaggtattgccaGacctcagcgaccgccctgag	12	14	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140731835G>C	ENST00000523390.1	+	1	2008	c.2008G>C	c.(2008-2010)Gac>Cac	p.D670H	PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATTGCCAGACCTCAGCGA	0.622																																																	0													104	119	114					5																	140731835		2161	4266	6427	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2008G>C	5.37:g.140731835G>C	ENSP00000429273:p.Asp670His		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D670H	ENST00000523390.1	37	c.2008	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456015	0.63401	.	.	ENSG00000254221	ENST00000523390	T	0.52057	0.68	5.22	4.35	0.52113	Cadherin (1);	.	.	.	.	T	0.58293	0.2112	L	0.45352	1.415	0.31717	N	0.638751	D;P	0.76494	0.999;0.901	D;B	0.72982	0.979;0.387	T	0.64054	-0.6497	9	0.87932	D	0	.	10.1149	0.42585	0.1563:0.0:0.8437:0.0	.	670;670	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	H	670	ENSP00000429273:D670H	ENSP00000429273:D670H	D	+	1	0	PCDHGB1	140712019	1.000000	0.71417	0.115000	0.21578	0.021000	0.10359	6.188000	0.72045	1.349000	0.45751	-0.258000	0.10820	GAC	PCDHGB1	-	pfscan_Cadherin		0.622	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140731835	1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.941	C	C	140731835	G	C	140731835	3	2	153	1	0	0	0	0	1	0	0	0	11586	942	33	1	2010	1	PCDHGB1	5	140731835	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	251111	140731835	40183425	420	26394										
PCDHGA5	56110	genome.wustl.edu	37	chr5	140746301	140746301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataaggtagatgcaaacaaaGaagaacggcgagttcaggtt	12	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140746301G>C	ENST00000518069.1	+	1	2404	c.2404G>C	c.(2404-2406)Gaa>Caa	p.E802Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	802					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAACAAAGAAGAACGGCG	0.428																																																	0													111	122	118					5																	140746301		2149	4267	6416	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2404G>C	5.37:g.140746301G>C	ENSP00000429834:p.Glu802Gln		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E802Q	ENST00000518069.1	37	c.2404	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	1.454	-0.564115	0.03939	.	.	ENSG00000253485	ENST00000518069	D	0.94897	-3.55	5.05	1.1	0.20463	.	.	.	.	.	D	0.93419	0.7901	M	0.69248	2.105	0.09310	N	1	P;B	0.47034	0.889;0.054	P;B	0.48454	0.578;0.025	D	0.85142	0.0981	9	0.30854	T	0.27	.	8.1587	0.31185	0.4526:0.0:0.5474:0.0	.	802;802	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	802	ENSP00000429834:E802Q	ENSP00000429834:E802Q	E	+	1	0	PCDHGA5	140726485	0.984000	0.35163	0.025000	0.17156	0.278000	0.26855	1.827000	0.39102	0.234000	0.21139	-0.156000	0.13503	GAA	PCDHGA5	-	NULL		0.428	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140746301	1	no_errors	ENST00000518069	ensembl	human	known	70_37	missense	SNP	0.089	C	C	140746301	G	C	140746301	3	2	153	1	0	0	0	0	1	0	0	0	11581	943	33	1	2406	1	PCDHGA5	5	140746301	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	14466	140746301	40168959	421	26395										
HDAC3	8841	genome.wustl.edu	37	chr5	141001051	141001051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actcttaaatctccacatcgCtttccttgtcattgtcatgg	5	12	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:141001051C>T	ENST00000305264.3	-	15	1350	c.1271G>A	c.(1270-1272)aGc>aAc	p.S424N	DIAPH1_ENST00000398562.2_5'Flank|DIAPH1_ENST00000253811.6_5'Flank|AC008781.7_ENST00000422040.2_RNA|DIAPH1_ENST00000398557.4_5'Flank|DIAPH1_ENST00000398566.3_5'Flank|DIAPH1_ENST00000389054.3_5'Flank|HDAC3_ENST00000469207.1_5'UTR|DIAPH1_ENST00000389057.5_5'Flank|DIAPH1_ENST00000518047.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	424					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTCCACATCGCTTTCCTTGTC	0.493																																																	0													197	172	181					5																	141001051		2203	4300	6503	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.1271G>A	5.37:g.141001051C>T	ENSP00000302967:p.Ser424Asn		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.S424N	ENST00000305264.3	37	c.1271	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922593	0.52653	.	.	ENSG00000171720	ENST00000305264	T	0.68903	-0.36	5.16	5.16	0.70880	.	0.191485	0.64402	D	0.000007	T	0.47358	0.1441	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40156	-0.9578	10	0.15066	T	0.55	-20.8865	18.4383	0.90654	0.0:1.0:0.0:0.0	.	424	O15379	HDAC3_HUMAN	N	424	ENSP00000302967:S424N	ENSP00000302967:S424N	S	-	2	0	HDAC3	140981235	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	7.651000	0.83577	2.698000	0.92095	0.563000	0.77884	AGC	HDAC3	-	pirsf_His_deacetylse_1		0.493	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	C	NM_003883		141001051	-1	no_errors	ENST00000305264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141001051	C	T	141001051	3	4	153	1	0	0	0	0	1	0	0	0	7028	797	28	4	19	4	HDAC3	5	141001051	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	254750	141001051	39914209	422	26396										
FCHSD1	89848	genome.wustl.edu	37	chr5	141024446	141024446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttgacccattcgtcagcatCtccctcctctatgacctcca	4	18	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:141024446C>T	ENST00000435817.2	-	15	1554	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.D428N|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	502	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTCAGCATCTCCCTCCTCT	0.597																																																	0													53	61	58					5																	141024446		2101	4226	6327	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1504G>A	5.37:g.141024446C>T	ENSP00000399259:p.Asp502Asn		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.D502N	ENST00000435817.2	37	c.1504	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.295923	0.95574	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.50001	0.76;0.76;0.76	5.54	5.54	0.83059	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.995;1.0	T	0.70883	-0.4751	10	0.72032	D	0.01	-12.83	19.0711	0.93136	0.0:1.0:0.0:0.0	.	182;502	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	N	502;428;185	ENSP00000399259:D502N;ENSP00000428677:D428N;ENSP00000430448:D185N	ENSP00000399259:D502N	D	-	1	0	FCHSD1	141004630	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.955000	0.76007	2.618000	0.88619	0.462000	0.41574	GAT	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.597	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	C	NM_033449		141024446	-1	no_errors	ENST00000435817	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141024446	C	T	141024446	3	4	153	1	0	0	0	0	1	0	0	0	5807	913	32	1	592	1	FCHSD1	5	141024446	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	23395	141024446	39890814	423	26397										
RNF14	9604	genome.wustl.edu	37	chr5	141363115	141363115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgttgtggaactcccataGaggtaaatgttttgggacag	12	6	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:141363115G>C	ENST00000394520.2	+	7	1543	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	RNF14_ENST00000394514.2_Missense_Mutation_p.E286Q|RNF14_ENST00000540015.1_Missense_Mutation_p.E109Q|RNF14_ENST00000347642.3_Missense_Mutation_p.E412Q|RNF14_ENST00000394515.3_Missense_Mutation_p.E236Q|RNF14_ENST00000394519.1_Missense_Mutation_p.E412Q|RNF14_ENST00000356143.1_Missense_Mutation_p.E412Q|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	412	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AACTCCCATAGAGGTAAATGT	0.418																																																	0													57	60	59					5																	141363115		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1234G>C	5.37:g.141363115G>C	ENSP00000378028:p.Glu412Gln		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.E412Q	ENST00000394520.2	37	c.1234	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845222	0.32606	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	6.01	4.2	0.49525	Zinc finger, C6HC-type (2);	0.100187	0.64402	N	0.000001	T	0.56396	0.1982	N	0.26092	0.79	0.45139	D	0.998159	P;B;B	0.43231	0.801;0.232;0.013	P;B;B	0.46585	0.521;0.206;0.122	T	0.49826	-0.8898	10	0.22109	T	0.4	.	17.0363	0.86477	0.0:0.298:0.702:0.0	.	109;236;412	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	Q	412;412;412;109;286;109;236;412	ENSP00000348462:E412Q;ENSP00000378028:E412Q;ENSP00000324956:E412Q;ENSP00000442490:E109Q;ENSP00000378022:E286Q;ENSP00000426832:E109Q;ENSP00000378023:E236Q;ENSP00000378027:E412Q	ENSP00000324956:E412Q	E	+	1	0	RNF14	141343299	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	3.829000	0.55760	0.834000	0.34852	0.650000	0.86243	GAG	RNF14	-	pfam_Znf_C6HC,smart_Znf_C6HC		0.418	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	G	NM_004290		141363115	1	no_errors	ENST00000347642	ensembl	human	known	70_37	missense	SNP	0.999	C	C	141363115	G	C	141363115	3	2	153	1	0	0	0	0	1	0	0	0	13473	943	33	1	1252	1	RNF14	5	141363115	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	338669	141363115	39552145	424	26398										
GPR151	134391	genome.wustl.edu	37	chr5	145895133	145895133	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaggcacatttccacaccttCatgatgcctgatggtgctaa	9	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:145895133C>T	ENST00000311104.2	-	1	620	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACACCTTCATGATGCCTG	0.512																																					Pancreas(78;420 1386 18535 37114 49710)												0													92	83	86					5																	145895133		2203	4300	6503	SO:0001583	missense	134391			AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.544G>A	5.37:g.145895133C>T	ENSP00000308733:p.Glu182Lys		Q86SN8|Q8NGV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E182K	ENST00000311104.2	37	c.544	CCDS34266.1	5	.	.	.	.	.	.	.	.	.	.	C	3.383	-0.125931	0.06795	.	.	ENSG00000173250	ENST00000311104	T	0.72615	-0.67	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.474372	0.23724	N	0.045188	T	0.53997	0.1831	N	0.22421	0.69	0.23180	N	0.998167	B	0.25007	0.116	B	0.25614	0.062	T	0.32771	-0.9894	10	0.09590	T	0.72	.	12.8579	0.57897	0.0:0.9212:0.0:0.0788	.	182	Q8TDV0	GP151_HUMAN	K	182	ENSP00000308733:E182K	ENSP00000308733:E182K	E	-	1	0	GPR151	145875326	0.104000	0.21937	0.964000	0.40570	0.426000	0.31534	2.943000	0.49026	2.808000	0.96608	0.655000	0.94253	GAA	GPR151	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	HGNC	protein_coding	OTTHUMT00000373457.1	C	NM_194251		145895133	-1	no_errors	ENST00000311104	ensembl	human	known	70_37	missense	SNP	0.799	T	T	145895133	C	T	145895133	3	4	153	1	0	0	0	0	1	0	0	0	6676	835	29	1	719	1	GPR151	5	145895133	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4532018	145895133	35020127	425	26399										
FBXO38	81545	genome.wustl.edu	37	chr5	147807033	147807033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acactgcttctcaaagccccGactttgtaaggacggtgaac	9	12	1	1	rs548894296		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:147807033G>A	ENST00000340253.5	+	15	2344	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000394370.3_Missense_Mutation_p.D726N|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	726					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAAGCCCCGACTTTGTAAG	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		18397	0		0	False		,,,				2504	0																0													53	46	48					5																	147807033		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2176G>A	5.37:g.147807033G>A	ENSP00000342023:p.Asp726Asn		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.D726N	ENST00000340253.5	37	c.2176		5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666960	0.67814	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.35048	1.36;1.33	6.08	6.08	0.98989	.	0.217821	0.48767	D	0.000169	T	0.23649	0.0572	N	0.24115	0.695	0.80722	D	1	P;P	0.46327	0.876;0.456	B;B	0.31016	0.123;0.033	T	0.03566	-1.1024	10	0.33940	T	0.23	-7.8876	19.2272	0.93822	0.0:0.0:1.0:0.0	.	726;726	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	N	726	ENSP00000342023:D726N;ENSP00000377895:D726N	ENSP00000342023:D726N	D	+	1	0	FBXO38	147787226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.988000	0.63863	2.894000	0.99253	0.655000	0.94253	GAC	FBXO38	-	NULL		0.557	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	G	NM_030793		147807033	1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147807033	G	A	147807033	3	1	153	1	0	0	0	0	1	0	0	0	5764	1058	37	1	2230	1	FBXO38	5	147807033	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1911900	147807033	33108227	426	26400										
ADRB2	154	genome.wustl.edu	37	chr5	148207390	148207390	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tactgccggagcccagatttCaggattgccttccaggagct	11	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:148207390C>T	ENST00000305988.4	+	1	1235	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	332					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GCCCAGATTTCAGGATTGCCT	0.498																																																	0													67	67	67					5																	148207390		2203	4300	6503	SO:0001819	synonymous_variant	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.996C>T	5.37:g.148207390C>T			B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.F332	ENST00000305988.4	37	c.996	CCDS4292.1	5																																																																																			ADRB2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt		0.498	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	C	NM_000024		148207390	1	no_errors	ENST00000305988	ensembl	human	known	70_37	silent	SNP	1.000	T	T	148207390	C	T	148207390	2	4	153	1	0	0	0	0	0	0	0	1	341	825	29	1		1	ADRB2	5	148207390	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	400357	148207390	32707870	427	26401										
CSF1R	1436	genome.wustl.edu	37	chr5	149450125	149450125	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggcggggcagagagagggtGaaggtgtgcctgcaggagag	22	5	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149450125G>T	ENST00000286301.3	-	8	1383	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	CSF1R_ENST00000543093.1_Nonsense_Mutation_p.S300*	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	364	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GAGAGAGGGTGAAGGTGTGCC	0.592																																																	0													25	24	24					5																	149450125		2148	4194	6342	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1092C>A	5.37:g.149450125G>T	ENSP00000286301:p.Phe364Leu		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S300*	ENST00000286301.3	37	c.899	CCDS4302.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.03|12.03	1.814804|1.814804	0.32053|0.32053	.|.	.|.	ENSG00000182578|ENSG00000182578	ENST00000286301;ENST00000394307|ENST00000543093	T|.	0.26810|.	1.71|.	5.58|5.58	2.48|2.48	0.30137|0.30137	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.562832|.	0.15885|.	N|.	0.239845|.	T|.	0.46092|.	0.1375|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B|.	0.22414|.	0.001;0.069|.	B;B|.	0.18263|.	0.008;0.021|.	T|.	0.40905|.	-0.9538|.	10|.	0.66056|0.59425	D|D	0.02|0.04	.|.	5.0485|5.0485	0.14496|0.14496	0.0867:0.1366:0.6195:0.1571|0.0867:0.1366:0.6195:0.1571	.|.	216;364|.	B4E2Y8;P07333|.	.;CSF1R_HUMAN|.	L|X	364;216|300	ENSP00000286301:F364L|.	ENSP00000286301:F364L|ENSP00000445282:S300X	F|S	-|-	3|2	2|0	CSF1R|CSF1R	149430318|149430318	0.901000|0.901000	0.30685|0.30685	0.240000|0.240000	0.24138|0.24138	0.498000|0.498000	0.33706|0.33706	0.665000|0.665000	0.25083|0.25083	0.713000|0.713000	0.32060|0.32060	-0.258000|-0.258000	0.10820|0.10820	TTC|TCA	CSF1R	-	NULL		0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	G	NM_005211		149450125	-1	no_errors	ENST00000543093	ensembl	human	known	70_37	nonsense	SNP	0.203	T	T	149450125	G	T	149450125	3	4	153	1	0	0	0	0	1	0	0	0	3937	1281	45	3	1886	3	CSF1R	5	149450125	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1242735	149450125	31465135	428	26402										
TCOF1	6949	genome.wustl.edu	37	chr5	149767590	149767590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctcggagagcacagccagGagctcctcctccgagagcga	13	15	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149767590G>C	ENST00000504761.2	+	18	2985	c.2985G>C	c.(2983-2985)agG>agC	p.R995S	TCOF1_ENST00000439160.2_Missense_Mutation_p.R995S|TCOF1_ENST00000451292.1_Missense_Mutation_p.R1032S|TCOF1_ENST00000323668.7_Missense_Mutation_p.R918S|TCOF1_ENST00000445265.2_Missense_Mutation_p.R918S|TCOF1_ENST00000513346.1_Missense_Mutation_p.R1032S|TCOF1_ENST00000377797.3_Missense_Mutation_p.R995S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	995					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAGCCAGGAGCTCCTCCT	0.647																																																	0													52	55	54					5																	149767590		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2985G>C	5.37:g.149767590G>C	ENSP00000421655:p.Arg995Ser		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.R1032S	ENST00000504761.2	37	c.3096	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061889	0.19987	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.73789	-0.78;-0.68;-0.71;-0.71;0.1;-0.71;-0.68;-0.71	5.8	2.7	0.31948	.	0.971961	0.08399	N	0.951682	T	0.54029	0.1833	N	0.24115	0.695	0.18873	N	0.999982	B;B;B;B;B;B	0.26744	0.158;0.053;0.053;0.053;0.031;0.053	B;B;B;B;B;B	0.20955	0.028;0.032;0.032;0.032;0.014;0.032	T	0.42481	-0.9449	10	0.11485	T	0.65	-2.465	4.3422	0.11115	0.2032:0.1898:0.607:0.0	.	504;995;918;995;995;918	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;.;TCOF_HUMAN;.	S	1032;995;918;918;995;995;995;1032	ENSP00000400939:R1032S;ENSP00000367028:R995S;ENSP00000409944:R918S;ENSP00000325223:R918S;ENSP00000406888:R995S;ENSP00000390717:R995S;ENSP00000421655:R995S;ENSP00000427484:R1032S	ENSP00000325223:R918S	R	+	3	2	TCOF1	149747783	0.983000	0.35010	0.917000	0.36280	0.425000	0.31504	1.515000	0.35845	1.451000	0.47736	0.655000	0.94253	AGG	TCOF1	-	NULL		0.647	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149767590	1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.485	C	C	149767590	G	C	149767590	3	2	153	1	0	0	0	0	1	0	0	0	15738	1165	41	1	3077	1	TCOF1	5	149767590	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	317465	149767590	31147670	429	26403										
TCOF1	6949	genome.wustl.edu	37	chr5	149767615	149767615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctcctccgagagcgaggatGaggacgtgatccccgctaca	12	14	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149767615G>A	ENST00000504761.2	+	18	3010	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	TCOF1_ENST00000439160.2_Missense_Mutation_p.E1004K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E1041K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E927K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E927K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1041K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1004K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1004					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGAGGATGAGGACGTGAT	0.657																																																	0													57	55	56					5																	149767615		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3010G>A	5.37:g.149767615G>A	ENSP00000421655:p.Glu1004Lys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E1041K	ENST00000504761.2	37	c.3121	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516059	0.85495	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	D;D;D;D;T;D;D;D	0.88431	-2.2;-2.24;-2.22;-2.22;-0.23;-2.3;-2.23;-2.38	5.8	5.8	0.92144	.	0.151227	0.31113	N	0.008223	D	0.92140	0.7508	L	0.54323	1.7	0.34780	D	0.734689	D;D;D;D;D;D	0.69078	0.987;0.997;0.997;0.997;0.995;0.997	P;D;D;D;P;D	0.65443	0.808;0.935;0.935;0.935;0.862;0.935	D	0.93298	0.6674	10	0.35671	T	0.21	-23.0674	15.5631	0.76266	0.0:0.0:1.0:0.0	.	513;1004;927;1004;1004;927	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;.;TCOF_HUMAN;.	K	1041;1004;927;927;1004;1004;1004;1041	ENSP00000400939:E1041K;ENSP00000367028:E1004K;ENSP00000409944:E927K;ENSP00000325223:E927K;ENSP00000406888:E1004K;ENSP00000390717:E1004K;ENSP00000421655:E1004K;ENSP00000427484:E1041K	ENSP00000325223:E927K	E	+	1	0	TCOF1	149747808	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.859000	0.62954	2.735000	0.93741	0.655000	0.94253	GAG	TCOF1	-	NULL		0.657	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149767615	1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149767615	G	A	149767615	3	1	153	1	0	0	0	0	1	0	0	0	15738	1291	45	1	3102	1	TCOF1	5	149767615	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	25	149767615	31147645	430	26404										
TCOF1	6949	genome.wustl.edu	37	chr5	149769569	149769569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatcagatggcaagaaacagGagggaccagccactcaggta	12	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149769569G>A	ENST00000504761.2	+	19	3166	c.3166G>A	c.(3166-3168)Gag>Aag	p.E1056K	TCOF1_ENST00000439160.2_Missense_Mutation_p.E1056K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E1093K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E979K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E979K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1093K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1056K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1056					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGAAACAGGAGGGACCAGC	0.597																																																	0													46	36	40					5																	149769569		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3166G>A	5.37:g.149769569G>A	ENSP00000421655:p.Glu1056Lys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E1093K	ENST00000504761.2	37	c.3277	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878496	0.33162	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.75938	-0.95;-0.98;-0.96;-0.97;-0.84;-0.89;-0.98;-0.86	4.8	1.81	0.25067	.	0.810646	0.10715	N	0.642374	T	0.58177	0.2104	L	0.33485	1.01	0.18873	N	0.999981	B;B;B;B;B	0.19331	0.035;0.035;0.035;0.02;0.035	B;B;B;B;B	0.17722	0.019;0.019;0.019;0.008;0.019	T	0.41431	-0.9509	10	0.25106	T	0.35	-11.1948	3.7628	0.08610	0.2524:0.2015:0.5461:0.0	.	1056;979;1056;1056;979	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	K	1093;1056;979;979;1056;1056;1056;1093	ENSP00000400939:E1093K;ENSP00000367028:E1056K;ENSP00000409944:E979K;ENSP00000325223:E979K;ENSP00000406888:E1056K;ENSP00000390717:E1056K;ENSP00000421655:E1056K;ENSP00000427484:E1093K	ENSP00000325223:E979K	E	+	1	0	TCOF1	149749762	0.991000	0.36638	0.885000	0.34714	0.132000	0.20833	1.107000	0.31110	0.240000	0.21263	-0.172000	0.13284	GAG	TCOF1	-	NULL		0.597	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149769569	1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.740	A	A	149769569	G	A	149769569	3	1	153	1	0	0	0	0	1	0	0	0	15738	1175	41	1	3262	1	TCOF1	5	149769569	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1954	149769569	31145691	431	26405										
SYNPO	11346	genome.wustl.edu	37	chr5	150029366	150029366	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agagctggcccgctgcccatCacctaccatgtccctgcctt	8	18	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:150029366C>T	ENST00000394243.1	+	3	2635	c.2261C>T	c.(2260-2262)tCa>tTa	p.S754L	SYNPO_ENST00000519664.1_Missense_Mutation_p.S510L|SYNPO_ENST00000522122.1_Missense_Mutation_p.S754L|SYNPO_ENST00000307662.4_Missense_Mutation_p.S510L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	754	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGCCCATCACCTACCATG	0.647																																																	0													68	84	78					5																	150029366		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2261C>T	5.37:g.150029366C>T	ENSP00000377789:p.Ser754Leu		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S754L	ENST00000394243.1	37	c.2261	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240108	0.79912	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.61274	0.12;0.12;0.28	5.06	5.06	0.68205	.	0.000000	0.40728	N	0.001021	T	0.76018	0.3929	M	0.69523	2.12	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.79001	-0.1981	10	0.72032	D	0.01	-13.0452	18.0401	0.89316	0.0:1.0:0.0:0.0	.	510;754	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	754;754;510;510	ENSP00000377789:S754L;ENSP00000428378:S754L;ENSP00000429268:S510L	ENSP00000302139:S510L	S	+	2	0	SYNPO	150009559	1.000000	0.71417	0.844000	0.33320	0.684000	0.39900	7.739000	0.84976	2.363000	0.80096	0.462000	0.41574	TCA	SYNPO	-	NULL		0.647	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	C	NM_007286		150029366	1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.999	T	T	150029366	C	T	150029366	3	4	153	1	0	0	0	0	1	0	0	0	15486	838	29	1	2267	1	SYNPO	5	150029366	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	259797	150029366	30885894	432	26406										
FAT2	2196	genome.wustl.edu	37	chr5	150931047	150931047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgtgtggcaatggtgcggGacccatctgtcacctcaaca	11	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:150931047G>A	ENST00000261800.5	-	6	4289	c.4277C>T	c.(4276-4278)tCc>tTc	p.S1426F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1426	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGGTGCGGGACCCATCTGT	0.527																																																	0													156	134	141					5																	150931047		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4277C>T	5.37:g.150931047G>A	ENSP00000261800:p.Ser1426Phe		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1426F	ENST00000261800.5	37	c.4277	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111614	0.20714	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.43	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.467124	0.20478	N	0.091547	T	0.39118	0.1066	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22487	-1.0215	10	0.36615	T	0.2	.	8.4008	0.32586	0.3611:0.0:0.6389:0.0	.	1426	Q9NYQ8	FAT2_HUMAN	F	1426	ENSP00000261800:S1426F	ENSP00000261800:S1426F	S	-	2	0	FAT2	150911240	0.016000	0.18221	0.230000	0.23976	0.990000	0.78478	1.782000	0.38654	-0.066000	0.12998	0.561000	0.74099	TCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150931047	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.002	A	A	150931047	G	A	150931047	3	1	153	1	0	0	0	0	1	0	0	0	5708	1174	41	1	8844	1	FAT2	5	150931047	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	901681	150931047	29984213	433	26407										
MFAP3	4238	genome.wustl.edu	37	chr5	153432736	153432736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgcaagactgagaaggctatCaatgagttctttagaactga	10	7	2	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:153432736C>G	ENST00000436816.1	+	3	771	c.552C>G	c.(550-552)atC>atG	p.I184M	MFAP3_ENST00000322602.5_Missense_Mutation_p.I184M|MFAP3_ENST00000439768.2_Missense_Mutation_p.I38M	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	184					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGAAGGCTATCAATGAGTTCT	0.453																																																	0													73	69	70					5																	153432736		2203	4300	6503	SO:0001583	missense	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.552C>G	5.37:g.153432736C>G	ENSP00000409933:p.Ile184Met		B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I184M	ENST00000436816.1	37	c.552	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564535	0.65651	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.30448	1.53;1.53	5.52	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.65975	2.015	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	T	0.49466	-0.8937	9	.	.	.	-24.3464	10.8077	0.46527	0.0:0.855:0.0:0.145	.	184	P55082	MFAP3_HUMAN	M	38;184;184	ENSP00000409933:I184M;ENSP00000322956:I184M	.	I	+	3	3	MFAP3	153412929	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.485000	0.45250	1.471000	0.48121	0.655000	0.94253	ATC	MFAP3	-	NULL		0.453	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	C	NM_005927		153432736	1	no_errors	ENST00000322602	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153432736	C	G	153432736	3	3	153	1	0	0	0	0	1	0	0	0	9538	816	29	1	558	1	MFAP3	5	153432736	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2501689	153432736	27482524	434	26408										
MFAP3	4238	genome.wustl.edu	37	chr5	153433097	153433097	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagattcagatgatggctctCtgaatgaacaaggccaggaa	12	7	2	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:153433097C>G	ENST00000436816.1	+	3	1132	c.913C>G	c.(913-915)Ctg>Gtg	p.L305V	MFAP3_ENST00000322602.5_Missense_Mutation_p.L305V|MFAP3_ENST00000439768.2_Missense_Mutation_p.L159V	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	305					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TGATGGCTCTCTGAATGAACA	0.453																																																	0													100	103	102					5																	153433097		2203	4300	6503	SO:0001583	missense	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.913C>G	5.37:g.153433097C>G	ENSP00000409933:p.Leu305Val		B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L305V	ENST00000436816.1	37	c.913	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	C	9.745	1.165898	0.21538	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.19394	2.15;2.15	5.72	4.85	0.62838	.	0.164825	0.37483	N	0.002067	T	0.16938	0.0407	L	0.42686	1.345	0.28951	N	0.890373	B	0.28512	0.214	B	0.20767	0.031	T	0.09574	-1.0668	9	.	.	.	-8.4284	11.2127	0.48808	0.0:0.6856:0.2427:0.0717	.	305	P55082	MFAP3_HUMAN	V	159;305;305	ENSP00000409933:L305V;ENSP00000322956:L305V	.	L	+	1	2	MFAP3	153413290	0.082000	0.21442	1.000000	0.80357	0.990000	0.78478	-0.115000	0.10741	1.544000	0.49359	0.650000	0.86243	CTG	MFAP3	-	NULL		0.453	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	C	NM_005927		153433097	1	no_errors	ENST00000322602	ensembl	human	known	70_37	missense	SNP	0.996	G	G	153433097	C	G	153433097	3	3	153	1	0	0	0	0	1	0	0	0	9538	912	32	1	919	1	MFAP3	5	153433097	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	361	153433097	27482163	435	26409										
GEMIN5	25929	genome.wustl.edu	37	chr5	154280963	154280963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgtggatggaaagtaggtGagaagcagccttgacatact	13	5	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:154280963G>A	ENST00000285873.7	-	21	3025	c.2950C>T	c.(2950-2952)Cac>Tac	p.H984Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	984					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAAGTAGGTGAGAAGCAGCC	0.448																																																	0													117	115	116					5																	154280963		2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2950C>T	5.37:g.154280963G>A	ENSP00000285873:p.His984Tyr		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H984Y	ENST00000285873.7	37	c.2950	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103940	0.37145	.	.	ENSG00000082516	ENST00000285873	T	0.67345	-0.26	5.93	5.06	0.68205	.	0.048773	0.85682	N	0.000000	T	0.46502	0.1396	N	0.12746	0.255	0.54753	D	0.999983	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.38286	-0.9668	10	0.10377	T	0.69	-11.1596	14.2267	0.65863	0.0723:0.0:0.9277:0.0	.	983;984	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	984	ENSP00000285873:H984Y	ENSP00000285873:H984Y	H	-	1	0	GEMIN5	154261156	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	5.002000	0.63952	1.475000	0.48197	0.655000	0.94253	CAC	GEMIN5	-	NULL		0.448	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	G			154280963	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154280963	G	A	154280963	3	1	153	1	0	0	0	0	1	0	0	0	6350	1290	45	1	1608	1	GEMIN5	5	154280963	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	847866	154280963	26634297	436	26410										
SLU7	10569	genome.wustl.edu	37	chr5	159842242	159842242	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctttggttcttccaaactCatttctttggaccccgatag	6	11	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:159842242C>T	ENST00000297151.4	-	2	447	c.60G>A	c.(58-60)atG>atA	p.M20I		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	20					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			CTTCCAAACTCATTTCTTTGG	0.458																																																	0													142	139	140					5																	159842242		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.60G>A	5.37:g.159842242C>T	ENSP00000297151:p.Met20Ile		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.M20I	ENST00000297151.4	37	c.60	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271764	0.40194	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.41065	1.61;1.01;1.01	5.68	3.81	0.43845	.	0.175051	0.64402	N	0.000007	T	0.22360	0.0539	N	0.12471	0.22	0.31298	N	0.688623	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33940	T	0.23	.	7.6491	0.28337	0.2759:0.6481:0.0:0.076	.	20	O95391	SLU7_HUMAN	I	20	ENSP00000297151:M20I;ENSP00000428943:M20I;ENSP00000429990:M20I	ENSP00000297151:M20I	M	-	3	0	SLU7	159774820	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.596000	0.36718	1.409000	0.46915	0.650000	0.86243	ATG	SLU7	-	NULL		0.458	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	C	NM_006425		159842242	-1	no_errors	ENST00000297151	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159842242	C	T	159842242	3	4	153	1	0	0	0	0	1	0	0	0	14785	826	29	1	1760	1	SLU7	5	159842242	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5561279	159842242	21073018	437	26411										
SLIT3	6586	genome.wustl.edu	37	chr5	168620515	168620515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcggcgtgctctggaaaagCaattctggaaggacttgcag	13	8	2	0	rs191850017		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:168620515C>T	ENST00000519560.1	-	4	800	c.381G>A	c.(379-381)ttG>ttA	p.L127L	SLIT3_ENST00000404867.3_Silent_p.L127L|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.L127L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	127					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGGAAAAGCAATTCTGGAA	0.483																																					Ovarian(29;311 847 10864 17279 24903)												0													158	140	146					5																	168620515		2203	4300	6503	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.381G>A	5.37:g.168620515C>T			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L127	ENST00000519560.1	37	c.381	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp		0.483	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168620515	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	1.000	T	T	168620515	C	T	168620515	2	4	153	1	0	0	0	0	0	0	0	1	14771	709	25	4		4	SLIT3	5	168620515	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8778273	168620515	12294745	438	26412										
CCDC99	54908	genome.wustl.edu	37	chr5	169028292	169028292	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttattctcagagacagttGaagtgcctgtactgaaaaag	9	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:169028292G>A	ENST00000265295.4	+	11	1612	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AGAGACAGTTGAAGTGCCTGT	0.413																																																	0													61	64	63					5																	169028292		2203	4300	6503	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1333G>A	5.37:g.169028292G>A	ENSP00000265295:p.Glu445Lys			Missense_Mutation	SNP	NULL	p.E445K	ENST00000265295.4	37	c.1333	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	2.041	-0.420025	0.04734	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.28255	1.62	5.77	1.91	0.25777	.	0.485116	0.23142	N	0.051442	T	0.13927	0.0337	N	0.21142	0.635	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.14578	0.011;0.004;0.004	T	0.26643	-1.0097	10	0.07325	T	0.83	-0.5429	3.9949	0.09553	0.3651:0.1791:0.4558:0.0	.	367;346;445	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	K	445;346	ENSP00000265295:E445K	ENSP00000265295:E445K	E	+	1	0	CCDC99	168960870	0.977000	0.34250	0.701000	0.30321	0.556000	0.35491	2.027000	0.41078	0.757000	0.33036	-0.156000	0.13503	GAA	SPDL1	-	NULL		0.413	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	G	NM_017785		169028292	1	no_errors	ENST00000265295	ensembl	human	known	70_37	missense	SNP	0.137	A	A	169028292	G	A	169028292	3	1	153	1	0	0	0	0	1	0	0	0	2881	1291	45	1	1371	1	CCDC99	5	169028292	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	407777	169028292	11886968	439	26413										
DOCK2	1794	genome.wustl.edu	37	chr5	169496194	169496194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgaggaccaggacaagctGacccacctcaaggacctgat	10	14	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:169496194G>A	ENST00000256935.8	+	46	4778	c.4698G>A	c.(4696-4698)ctG>ctA	p.L1566L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L1058L|DOCK2_ENST00000540750.1_Silent_p.L627L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1566	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACAAGCTGACCCACCTCA	0.592																																																	0													84	65	71					5																	169496194		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4698G>A	5.37:g.169496194G>A			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.L1566	ENST00000256935.8	37	c.4698	CCDS4371.1	5																																																																																			DOCK2	-	pfam_DOCK_C,superfamily_Cyt_c_dom		0.592	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169496194	1	no_errors	ENST00000256935	ensembl	human	known	70_37	silent	SNP	1.000	A	A	169496194	G	A	169496194	2	1	153	1	0	0	0	0	0	0	0	1	4697	1277	45	1		1	DOCK2	5	169496194	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	467902	169496194	11419066	440	26414										
C5orf41	153222	genome.wustl.edu	37	chr5	172518197	172518197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaagagcacaattattctCtttttgtctccgacaacttg	6	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:172518197C>G	ENST00000296953.2	+	4	1334	c.1015C>G	c.(1015-1017)Ctt>Gtt	p.L339V	CREBRF_ENST00000540014.1_Missense_Mutation_p.L339V|CREBRF_ENST00000520420.1_Missense_Mutation_p.L339V|CREBRF_ENST00000522692.1_Missense_Mutation_p.L339V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	339					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAATTATTCTCTTTTTGTCTC	0.473																																																	0													79	73	75					5																	172518197		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1015C>G	5.37:g.172518197C>G	ENSP00000296953:p.Leu339Val		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.L339V	ENST00000296953.2	37	c.1015	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322970	0.60634	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.60040	0.22;0.22	5.52	5.52	0.82312	.	0.125075	0.56097	D	0.000037	T	0.68677	0.3027	L	0.32530	0.975	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.79108	0.992;0.992	T	0.69665	-0.5084	10	0.54805	T	0.06	.	19.4372	0.94801	0.0:1.0:0.0:0.0	.	339;339	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	V	339	ENSP00000296953:L339V;ENSP00000440075:L339V	ENSP00000296953:L339V	L	+	1	0	C5orf41	172450803	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.227000	0.65305	2.601000	0.87937	0.655000	0.94253	CTT	CREBRF	-	NULL		0.473	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	C	NM_153607		172518197	1	no_errors	ENST00000540014	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172518197	C	G	172518197	3	3	153	1	0	0	0	0	1	0	0	0	2305	913	32	1	1025	1	C5orf41	5	172518197	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3022003	172518197	8397063	441	26415										
F12	2161	genome.wustl.edu	37	chr5	176830339	176830339	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttggcaggcacaccggctGaacgtaaggcgacaggagcg	16	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:176830339G>A	ENST00000253496.3	-	12	1495	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	483	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CACACCGGCTGAACGTAAGGC	0.706									Hereditary Angioedema																																								0													24	29	28					5																	176830339		2201	4298	6499	SO:0001587	stop_gained	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1447C>T	5.37:g.176830339G>A	ENSP00000253496:p.Gln483*		P78339	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.Q483*	ENST00000253496.3	37	c.1447	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.421772	0.97555	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.31	4.43	0.53597	.	0.305040	0.23842	N	0.044034	.	.	.	.	.	.	0.32294	N	0.565952	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.9495	0.52946	0.0:0.1752:0.8248:0.0	.	.	.	.	X	483	.	ENSP00000253496:Q483X	Q	-	1	0	F12	176762945	0.786000	0.28738	0.202000	0.23494	0.975000	0.68041	1.069000	0.30641	1.213000	0.43380	0.491000	0.48974	CAG	F12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6		0.706	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	G			176830339	-1	no_errors	ENST00000253496	ensembl	human	known	70_37	nonsense	SNP	0.410	A	A	176830339	G	A	176830339	4	1	153	1	0	0	0	0	0	1	0	0	5351	1299	45	1	412	1	F12	5	176830339	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4312142	176830339	4084921	442	26416										
F12	2161	genome.wustl.edu	37	chr5	176830384	176830384	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgccgtccgcatcctcctGaaggcgcaacagagctaacc	10	16	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:176830384G>A	ENST00000253496.3	-	12	1450	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	468	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GCATCCTCCTGAAGGCGCAAC	0.731									Hereditary Angioedema																																								0													16	20	19					5																	176830384		2199	4290	6489	SO:0001587	stop_gained	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1402C>T	5.37:g.176830384G>A	ENSP00000253496:p.Gln468*		P78339	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.Q468*	ENST00000253496.3	37	c.1402	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.061370	0.97246	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.31	3.4	0.38934	.	0.481913	0.17626	N	0.167552	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9987	0.30284	0.0:0.1764:0.6407:0.1828	.	.	.	.	X	468	.	ENSP00000253496:Q468X	Q	-	1	0	F12	176762990	0.964000	0.33143	0.998000	0.56505	0.642000	0.38348	0.857000	0.27831	1.231000	0.43661	0.491000	0.48974	CAG	F12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.731	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	G			176830384	-1	no_errors	ENST00000253496	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	176830384	G	A	176830384	4	1	153	1	0	0	0	0	0	1	0	0	5351	1299	45	1	457	1	F12	5	176830384	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	45	176830384	4084876	443	26417										
RMND5B	64777	genome.wustl.edu	37	chr5	177570673	177570673	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttcaagcagcctttcctaGagttgaatcgaatcctggaa	8	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:177570673G>C	ENST00000515098.1	+	7	823	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	RMND5B_ENST00000313386.4_Missense_Mutation_p.E158Q|RMND5B_ENST00000542098.1_Missense_Mutation_p.E145Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	158	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTTTCCTAGAGTTGAATCG	0.522																																																	0													116	113	114					5																	177570673		2203	4300	6503	SO:0001583	missense	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.472G>C	5.37:g.177570673G>C	ENSP00000420875:p.Glu158Gln		Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E158Q	ENST00000515098.1	37	c.472	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287525	0.80803	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.15	4.15	0.48705	CTLH, C-terminal LisH motif (2);	0.057784	0.64402	D	0.000002	T	0.74612	0.3739	M	0.73319	2.225	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.77004	0.989;0.982;0.979	T	0.72861	-0.4164	9	0.30854	T	0.27	-26.3928	11.8189	0.52226	0.0:0.0:1.0:0.0	.	145;145;158	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	Q	158;158;145	.	ENSP00000320623:E158Q	E	+	1	0	RMND5B	177503279	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	8.586000	0.90806	2.153000	0.67306	0.462000	0.41574	GAG	RMND5B	-	smart_CTLH_C,pfscan_CTLH_C		0.522	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	G	NM_022762		177570673	1	no_errors	ENST00000313386	ensembl	human	known	70_37	missense	SNP	1.000	C	C	177570673	G	C	177570673	3	2	153	1	0	0	0	0	1	0	0	0	13428	943	33	1	486	1	RMND5B	5	177570673	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	740289	177570673	3344587	444	26418										
ZNF454	285676	genome.wustl.edu	37	chr5	178391810	178391810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caatgtggaggccaggagatCagtttgcagcgagtggtact	15	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:178391810C>G	ENST00000320129.3	+	5	708	c.405C>G	c.(403-405)atC>atG	p.I135M	ZNF454_ENST00000519564.1_Missense_Mutation_p.I135M	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCAGGAGATCAGTTTGCAGC	0.483																																																	0													92	88	89					5																	178391810		2203	4300	6503	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.405C>G	5.37:g.178391810C>G	ENSP00000326249:p.Ile135Met		Q2M1P2|Q2M323	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I135M	ENST00000320129.3	37	c.405	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	C	2.007	-0.427971	0.04701	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.07114	3.22;3.22	3.92	-7.84	0.01196	.	1.947510	0.03030	N	0.151906	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31696	-0.9934	10	0.45353	T	0.12	-0.0432	12.8024	0.57594	0.1331:0.2535:0.6134:0.0	.	135	Q8N9F8	ZN454_HUMAN	M	135	ENSP00000326249:I135M;ENSP00000430354:I135M	ENSP00000326249:I135M	I	+	3	3	ZNF454	178324416	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.206000	0.09398	-3.038000	0.00264	-2.840000	0.00105	ATC	ZNF454	-	NULL		0.483	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	C	XM_209718		178391810	1	no_errors	ENST00000320129	ensembl	human	known	70_37	missense	SNP	0.001	G	G	178391810	C	G	178391810	3	3	153	1	0	0	0	0	1	0	0	0	17953	816	29	1	419	1	ZNF454	5	178391810	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	821137	178391810	2523450	445	26419										
DSP	1832	genome.wustl.edu	37	chr6	7559466	7559466	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttttctttgcaggcttcttCagctccaagagcaaatgcga	8	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:7559466C>G	ENST00000379802.3	+	4	771	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	DSP_ENST00000418664.2_Missense_Mutation_p.Q144E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	144	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGGCTTCTTCAGCTCCAAGA	0.493																																																	0													88	95	93					6																	7559466		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.430C>G	6.37:g.7559466C>G	ENSP00000369129:p.Gln144Glu		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q144E	ENST00000379802.3	37	c.430	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554034	0.86231	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74632	-0.52;-0.86	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000007	T	0.73783	0.3631	N	0.24115	0.695	0.44635	D	0.997617	P;P	0.49447	0.924;0.924	P;P	0.62298	0.9;0.9	T	0.76063	-0.3096	10	0.54805	T	0.06	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	191;144	Q4LE79;P15924	.;DESP_HUMAN	E	144	ENSP00000369129:Q144E;ENSP00000396591:Q144E	ENSP00000369129:Q144E	Q	+	1	0	DSP	7504465	0.999000	0.42202	0.999000	0.59377	0.908000	0.53690	5.253000	0.65452	2.756000	0.94617	0.655000	0.94253	CAG	DSP	-	NULL		0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7559466	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7559466	C	G	7559466	3	3	153	1	0	0	0	0	1	0	0	0	4791	827	29	1	444	1	DSP	6	7559466	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		7559466	163555601	446	26420										
TXNDC5	81567	genome.wustl.edu	37	chr6	7886214	7886214	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catggagcataaaacttgatGaaggttattccttctgcaat	8	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:7886214G>A	ENST00000379757.4	-	8	1063	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	TXNDC5_ENST00000473453.1_Silent_p.F234F|TXNDC5_ENST00000539054.1_Silent_p.F270F|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	342	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					AAAACTTGATGAAGGTTATTC	0.423																																					Ovarian(119;1430 1625 3928 26125 34589)												0													163	132	142					6																	7886214		2203	4300	6503	SO:0001819	synonymous_variant	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1026C>T	6.37:g.7886214G>A			B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.F342	ENST00000379757.4	37	c.1026	CCDS4505.1	6																																																																																			TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin		0.423	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	G	NM_030810		7886214	-1	no_errors	ENST00000379757	ensembl	human	known	70_37	silent	SNP	0.772	A	A	7886214	G	A	7886214	2	1	153	1	0	0	0	0	0	0	0	1	16830	1281	45	1		1	TXNDC5	6	7886214	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	326748	7886214	163228853	447	26421										
EEF1E1	9521	genome.wustl.edu	37	chr6	8097678	8097678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcctgttagacttggaccaTtgtttgtctgaagaactgga	10	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:8097678T>C	ENST00000379715.5	-	2	166	c.110A>G	c.(109-111)aAt>aGt	p.N37S	EEF1E1_ENST00000429723.2_Missense_Mutation_p.N37S|EEF1E1_ENST00000507463.1_Missense_Mutation_p.N37S|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.N37S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	37	N-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTTGGACCATTGTTTGTCTG	0.353																																																	0													82	74	77					6																	8097678		2203	4300	6503	SO:0001583	missense	9521			AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.110A>G	6.37:g.8097678T>C	ENSP00000369038:p.Asn37Ser		C9JLK5|Q5THS2	Missense_Mutation	SNP	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	p.N37S	ENST00000379715.5	37	c.110	CCDS4507.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.06|10.06	1.246207|1.246207	0.22796|0.22796	.|.	.|.	ENSG00000124802|ENSG00000124802	ENST00000502429|ENST00000429723;ENST00000379715;ENST00000507463;ENST00000488226	.|T;T;T	.|0.14516	.|3.39;3.39;2.5	5.62|5.62	1.55|1.55	0.23275|0.23275	.|Thioredoxin-like fold (1);	.|0.431542	.|0.29861	.|N	.|0.011014	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.21097|0.21097	0.63|0.63	0.33639|0.33639	D|D	0.607036|0.607036	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.45425|0.45425	-0.9262|-0.9262	5|9	.|.	.|.	.|.	-11.2502|-11.2502	9.2739|9.2739	0.37688|0.37688	0.0:0.3778:0.0:0.6222|0.0:0.3778:0.0:0.6222	.|.	.|37;37	.|C9JLK5;O43324	.|.;MCA3_HUMAN	V|S	24|37;37;37;49	.|ENSP00000414363:N37S;ENSP00000369038:N37S;ENSP00000425577:N49S	.|.	M|N	-|-	1|2	0|0	EEF1E1|EEF1E1	8042677|8042677	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	0.596000|0.596000	0.24044|0.24044	0.029000|0.029000	0.15352|0.15352	-0.290000|-0.290000	0.09829|0.09829	ATG|AAT	EEF1E1	-	NULL		0.353	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1E1	HGNC	protein_coding	OTTHUMT00000039799.2	T	NM_004280		8097678	-1	no_errors	ENST00000379715	ensembl	human	known	70_37	missense	SNP	0.999	C	C	8097678	T	C	8097678	3	2	153	1	0	0	0	0	1	0	0	0	4937	1493	52	5	466	5	EEF1E1	6	8097678	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	211464	8097678	163017389	448	26422										
GCNT2	2651	genome.wustl.edu	37	chr6	10557320	10557320	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggggtgctgcccccagctCatgcaattggacggactaaa	12	12	1	0	rs574686656		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:10557320C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Missense_Mutation_p.H222Y|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCCCCAGCTCATGCAATTGG	0.478													C|||	1	0.000199681	0	0.0014	5008	,	,		20947	0		0	False		,,,				2504	0																0													61	59	59					6																	10557320		2203	4300	6503	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27251C>T	6.37:g.10557320C>T				Missense_Mutation	SNP	pfam_Glyco_trans_14	p.H222Y	ENST00000379597.3	37	c.664	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699804	0.30142	.	.	ENSG00000111846	ENST00000316170	T	0.11604	2.76	5.01	5.01	0.66863	.	.	.	.	.	T	0.06735	0.0172	L	0.48218	1.51	0.80722	D	1	B	0.20459	0.045	B	0.26614	0.071	T	0.17745	-1.0359	9	0.27082	T	0.32	.	18.272	0.90071	0.0:1.0:0.0:0.0	.	222	Q06430	GNT2B_HUMAN	Y	222	ENSP00000314844:H222Y	ENSP00000314844:H222Y	H	+	1	0	GCNT2	10665306	0.950000	0.32346	0.109000	0.21407	0.534000	0.34807	2.127000	0.42035	2.472000	0.83506	0.655000	0.94253	CAT	GCNT2	-	pfam_Glyco_trans_14		0.478	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	C	NM_145649		10557320	1	no_errors	ENST00000316170	ensembl	human	known	70_37	missense	SNP	0.999	T	T	10557320	C	T	10557320	1	4	153	0	1	0	0	0	0	0	0	0	6320	826	29	1		1	GCNT2	6	10557320	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2459642	10557320	160557747	449	26423										
KDM1B	221656	genome.wustl.edu	37	chr6	18215304	18215304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catccgtgaggaccctggatGacaaacaggtgctgcagcag	13	11	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:18215304G>A	ENST00000297792.5	+	16	1657	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	KDM1B_ENST00000388870.2_Missense_Mutation_p.D727N|KDM1B_ENST00000397244.1_Missense_Mutation_p.D495N|KDM1B_ENST00000546309.2_Missense_Mutation_p.D17N			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	726					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GACCCTGGATGACAAACAGGT	0.582																																																	0													73	67	69					6																	18215304		2203	4300	6503	SO:0001583	missense	221656			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1480G>A	6.37:g.18215304G>A	ENSP00000297792:p.Asp494Asn		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.D727N	ENST00000297792.5	37	c.2179	CCDS34343.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.692706|4.692706	0.88735|0.88735	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D;D|.	0.94576|.	-3.46;-3.46;-3.46;-3.46|.	5.99|5.99	5.13|5.13	0.70059|0.70059	Amine oxidase (1);|.	0.140147|.	0.64402|.	D|.	0.000007|.	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.76494|.	0.999;0.998;0.722|.	D;D;B|.	0.79108|.	0.992;0.966;0.393|.	T|T	0.66972|0.66972	-0.5788|-0.5788	10|5	0.49607|.	T|.	0.09|.	-20.5785|-20.5785	14.9863|14.9863	0.71351|0.71351	0.0679:0.0:0.9321:0.0|0.0679:0.0:0.9321:0.0	.|.	543;726;494|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	N|I	17;727;495;494;724|543	ENSP00000442670:D17N;ENSP00000373522:D727N;ENSP00000380419:D495N;ENSP00000297792:D494N|.	ENSP00000297792:D494N|.	D|M	+|+	1|3	0|0	KDM1B|KDM1B	18323283|18323283	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.552000|0.552000	0.35366|0.35366	7.988000|7.988000	0.88194|0.88194	1.546000|1.546000	0.49388|0.49388	0.650000|0.650000	0.86243|0.86243	GAC|ATG	KDM1B	-	pfam_Amino_oxidase		0.582	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	G	NM_153042		18215304	1	no_errors	ENST00000388870	ensembl	human	known	70_37	missense	SNP	0.999	A	A	18215304	G	A	18215304	3	1	153	1	0	0	0	0	1	0	0	0	8143	1290	45	1	1534	1	KDM1B	6	18215304	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7657984	18215304	152899763	450	26424										
E2F3	1871	genome.wustl.edu	37	chr6	20480156	20480156	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacccccaagggcaaaggaaGagctgcactacgaagtccag	11	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:20480156G>A	ENST00000346618.3	+	2	539	c.473G>A	c.(472-474)aGa>aAa	p.R158K	E2F3_ENST00000535432.1_Missense_Mutation_p.R33K	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	158					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GGCAAAGGAAGAGCTGCACTA	0.443																																																	0													60	56	57					6																	20480156		2203	4300	6503	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.473G>A	6.37:g.20480156G>A	ENSP00000262904:p.Arg158Lys		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.R158K	ENST00000346618.3	37	c.473	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951865	0.53293	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.06449	3.3;3.33	6.16	6.16	0.99307	.	0.091548	0.64402	D	0.000001	T	0.03305	0.0096	L	0.34521	1.04	0.39416	D	0.966835	B;B	0.22683	0.073;0.007	B;B	0.26094	0.066;0.013	T	0.48115	-0.9063	10	0.13853	T	0.58	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	158;33	O00716;Q68DT0	E2F3_HUMAN;.	K	43;158;33	ENSP00000262904:R158K;ENSP00000443418:R33K	ENSP00000262904:R158K	R	+	2	0	E2F3	20588135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.839000	0.62810	2.937000	0.99478	0.650000	0.86243	AGA	E2F3	-	NULL		0.443	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	G			20480156	1	no_errors	ENST00000346618	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20480156	G	A	20480156	3	1	153	1	0	0	0	0	1	0	0	0	4878	942	33	1	479	1	E2F3	6	20480156	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2264852	20480156	150634911	451	26425										
DCDC2	51473	genome.wustl.edu	37	chr6	24289099	24289099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactccctttagactttctgGatcctacaataggaggtagt	8	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:24289099G>A	ENST00000378454.3	-	6	1041	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	247					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AGACTTTCTGGATCCTACAAT	0.338																																																	0													116	111	112					6																	24289099		2203	4300	6503	SO:0001583	missense	51473			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.740C>T	6.37:g.24289099G>A	ENSP00000367715:p.Ser247Phe		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S247F	ENST00000378454.3	37	c.740	CCDS4550.1	6	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098513	0.37048	.	.	ENSG00000146038	ENST00000378454	T	0.02737	4.18	5.88	5.88	0.94601	.	0.233665	0.46758	D	0.000272	T	0.01800	0.0057	L	0.49126	1.545	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.49952	-0.8884	10	0.34782	T	0.22	0.3519	13.0984	0.59206	0.0737:0.0:0.9263:0.0	.	247	Q9UHG0	DCDC2_HUMAN	F	247	ENSP00000367715:S247F	ENSP00000367715:S247F	S	-	2	0	DCDC2	24397078	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.763000	0.55257	2.792000	0.96026	0.557000	0.71058	TCC	DCDC2	-	NULL		0.338	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1	G	NM_016356		24289099	-1	no_errors	ENST00000378454	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24289099	G	A	24289099	3	1	153	1	0	0	0	0	1	0	0	0	4290	1174	41	1	710	1	DCDC2	6	24289099	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3808943	24289099	146825968	452	26426										
FAM65B	9750	genome.wustl.edu	37	chr6	24873921	24873921	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcttccacccttttaggctGaggctctttggggggattgt	12	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:24873921G>A	ENST00000259698.4	-	3	383	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	FAM65B_ENST00000538035.1_Nonsense_Mutation_p.Q99*|FAM65B_ENST00000510784.2_Nonsense_Mutation_p.Q104*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.Q70*|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.Q70*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	70	Involved in cell filopodia formation.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTTTAGGCTGAGGCTCTTTG	0.443																																																	0													132	121	124					6																	24873921		1825	4084	5909	SO:0001587	stop_gained	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.208C>T	6.37:g.24873921G>A	ENSP00000259698:p.Gln70*		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q70*	ENST00000259698.4	37	c.208	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.835498	0.97873	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.1821	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	70;99;70;70;104	.	ENSP00000259698:Q70X	Q	-	1	0	FAM65B	24981900	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.447000	0.97595	2.652000	0.90054	0.655000	0.94253	CAG	FAM65B	-	NULL		0.443	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	G			24873921	-1	no_errors	ENST00000259698	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	24873921	G	A	24873921	4	1	153	1	0	0	0	0	0	1	0	0	5618	1299	45	1	3092	1	FAM65B	6	24873921	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	584822	24873921	146241146	453	26427										
HIST1H4B	8366	genome.wustl.edu	37	chr6	26027476	26027476	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taccgcctttgccgcgaccaGacatgtctaaccagctgaca	8	15	1	2	rs142718461		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:26027476G>A	ENST00000377364.3	-	1	4	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	2					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GCCGCGACCAGACATGTCTAA	0.502																																																	0								G	PHE/SER	1,4405		0,1,2202	47	45	46		5	4.6	1	6	dbSNP_134	46	0,8600		0,0,4300	no	missense	HIST1H4B	NM_003544.2	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	2/104	26027476	1,13005	2203	4300	6503	SO:0001583	missense	8366			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.5C>T	6.37:g.26027476G>A	ENSP00000366581:p.Ser2Phe		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.S2F	ENST00000377364.3	37	c.5	CCDS4572.1	6	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181670	0.38511	2.27E-4	0.0	ENSG00000124529	ENST00000377364	.	.	.	4.56	4.56	0.56223	.	0.259433	0.25625	U	0.029398	T	0.69468	0.3114	.	.	.	0.35698	D	0.815405	.	.	.	.	.	.	T	0.75266	-0.3378	6	0.87932	D	0	.	16.7654	0.85522	0.0:0.0:1.0:0.0	.	.	.	.	F	2	.	ENSP00000366581:S2F	S	-	2	0	HIST1H4B	26135455	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	7.198000	0.77823	2.454000	0.82982	0.563000	0.77884	TCT	HIST1H4B	-	superfamily_Histone-fold		0.502	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2	G	NM_003544		26027476	-1	no_errors	ENST00000377364	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26027476	G	A	26027476	3	1	153	1	0	0	0	0	1	0	0	0	7186	942	33	1	310	1	HIST1H4B	6	26027476	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1153555	26027476	145087591	454	26428										
HIST1H4G	8369	genome.wustl.edu	37	chr6	26247065	26247065	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctcataaatgaggcccaaGatgcgcttgacaccgccatg	9	13	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:26247065G>A	ENST00000244537.4	-	1	194	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	47						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I47M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGAGGCCCAAGATGCGCTTGA	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											52	49	50					6																	26247065		2203	4300	6503	SO:0001819	synonymous_variant	8369			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.141C>T	6.37:g.26247065G>A				Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	p.I47	ENST00000244537.4	37	c.141	CCDS4599.1	6																																																																																			HIST1H4G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4		0.572	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4G	HGNC	protein_coding	OTTHUMT00000040107.1	G	NM_003547		26247065	-1	no_errors	ENST00000244537	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26247065	G	A	26247065	2	1	153	1	0	0	0	0	0	0	0	1	7191	932	33	1		1	HIST1H4G	6	26247065	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	219589	26247065	144868002	455	26429										
HIST1H2AL	8332	genome.wustl.edu	37	chr6	27833221	27833221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctccagttccccgtgggccGagtgcaccgactgctccgca	11	17	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:27833221G>C	ENST00000357320.2	+	1	188	c.89G>C	c.(88-90)cGa>cCa	p.R30P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCCGTGGGCCGAGTGCACCGA	0.672																																																	0													59	67	64					6																	27833221		2203	4300	6503	SO:0001583	missense	8332			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.89G>C	6.37:g.27833221G>C	ENSP00000349873:p.Arg30Pro		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30P	ENST00000357320.2	37	c.89	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259562	0.39995	.	.	ENSG00000198374	ENST00000357320	D	0.85339	-1.97	4.79	3.92	0.45320	.	0.000000	0.29609	U	0.011678	D	0.85401	0.5688	.	.	.	0.35415	D	0.792737	.	.	.	.	.	.	D	0.87274	0.2288	7	0.87932	D	0	.	12.307	0.54908	0.0827:0.0:0.9173:0.0	.	.	.	.	P	30	ENSP00000349873:R30P	ENSP00000349873:R30P	R	+	2	0	HIST1H2AL	27941200	1.000000	0.71417	0.861000	0.33841	0.007000	0.05969	7.329000	0.79170	1.147000	0.42369	0.655000	0.94253	CGA	HIST1H2AL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.672	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	G	NM_003511		27833221	1	no_errors	ENST00000357320	ensembl	human	known	70_37	missense	SNP	0.999	C	C	27833221	G	C	27833221	3	2	153	1	0	0	0	0	1	0	0	0	7158	1058	37	1	91	1	HIST1H2AL	6	27833221	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1586156	27833221	143281846	456	26430										
ZNF192	7745	genome.wustl.edu	37	chr6	28120986	28120986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaccttctgggcagattaGagaggcagcggggaaatccc	15	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:28120986G>C	ENST00000330236.6	+	6	1112	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E310Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	310	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGCAGATTAGAGAGGCAGCG	0.512																																																	0													80	82	81					6																	28120986		2203	4300	6503	SO:0001583	missense	7745				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.928G>C	6.37:g.28120986G>C	ENSP00000332750:p.Glu310Gln		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E310Q	ENST00000330236.6	37	c.928	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901674	0.33535	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.06608	3.28;3.28	5.74	5.74	0.90152	Krueppel-associated box (1);	0.103785	0.43110	D	0.000605	T	0.02649	0.0080	N	0.12182	0.205	0.80722	D	1	D	0.53885	0.963	P	0.47528	0.549	T	0.62492	-0.6843	10	0.16420	T	0.52	.	15.8024	0.78463	0.0:0.0:1.0:0.0	.	310	Q15776	ZN192_HUMAN	Q	310	ENSP00000332750:E310Q;ENSP00000402948:E310Q	ENSP00000332750:E310Q	E	+	1	0	ZNF192	28228965	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.195000	0.42677	2.884000	0.98904	0.655000	0.94253	GAG	ZNF192	-	pfscan_Krueppel-associated_box		0.512	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	G			28120986	1	no_errors	ENST00000330236	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28120986	G	C	28120986	3	2	153	1	0	0	0	0	1	0	0	0	17786	943	33	1	946	1	ZNF192	6	28120986	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	287765	28120986	142994081	457	26431										
ZFP57	4340	genome.wustl.edu	37	chr6	29640768	29640768	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcttgagggcttcactggatGagagttggatctggcatcct	13	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:29640768G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.H354Y|ZFP57_ENST00000376883.1_Missense_Mutation_p.H354Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.H374Y	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCACTGGATGAGAGTTGGAT	0.517																																																	0													301	324	316					6																	29640768		1255	2556	3811	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640768G>A			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H374Y	ENST00000376917.3	37	c.1120	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	0.899	-0.722998	0.03158	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05649	3.41;3.64;3.64	3.94	-2.87	0.05700	.	2.218570	0.02542	N	0.094732	T	0.01940	0.0061	L	0.53617	1.68	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46076	-0.9217	10	0.62326	D	0.03	3.1806	1.3551	0.02180	0.1646:0.2468:0.3371:0.2516	.	374;354	Q9NU63-3;Q9NU63-2	.;.	Y	374;354;354	ENSP00000418259:H374Y;ENSP00000366078:H354Y;ENSP00000366080:H354Y	ENSP00000366078:H354Y	H	-	1	0	ZFP57	29748747	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.617000	0.05584	-0.641000	0.05487	-0.244000	0.11960	CAT	ZFP57	-	NULL		0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000076160.3	G	NM_002433		29640768	-1	no_errors	ENST00000488757	ensembl	human	known	70_37	missense	SNP	0.000	A	A	29640768	G	A	29640768	1	1	153	0	1	0	0	0	0	0	0	0	17681	1290	45	1		1	ZFP57	6	29640768	IGR	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1519782	29640768	141474299	458	26432										
DHX16	8449	genome.wustl.edu	37	chr6	30638915	30638915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtttcttctggaggctgcttCcagccctactcacagtctcc	8	15	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:30638915C>A	ENST00000376442.3	-	2	539	c.344G>T	c.(343-345)gGa>gTa	p.G115V		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	115					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GAGGCTGCTTCCAGCCCTACT	0.522																																																	0													165	178	173					6																	30638915		1510	2709	4219	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.344G>T	6.37:g.30638915C>A	ENSP00000365625:p.Gly115Val		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G115V	ENST00000376442.3	37	c.344	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	C	8.467	0.856548	0.17106	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.64260	-0.09;2.0	5.27	3.49	0.39957	.	0.347833	0.30630	N	0.009215	T	0.16300	0.0392	N	0.08118	0	0.21782	N	0.999543	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15636	-1.0430	10	0.33940	T	0.23	.	5.1161	0.14834	0.1645:0.6606:0.0:0.1749	.	55;115	B4DZ28;O60231	.;DHX16_HUMAN	V	115;55	ENSP00000365625:G115V;ENSP00000399101:G55V	ENSP00000365625:G115V	G	-	2	0	DHX16	30746894	0.225000	0.23685	0.978000	0.43139	0.357000	0.29423	0.094000	0.15107	0.615000	0.30124	-0.232000	0.12228	GGA	DHX16	-	NULL		0.522	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	C	NM_003587		30638915	-1	no_errors	ENST00000376442	ensembl	human	known	70_37	missense	SNP	0.254	A	A	30638915	C	A	30638915	3	1	153	1	0	0	0	0	1	0	0	0	4512	855	30	3	2857	3	DHX16	6	30638915	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	998147	30638915	140476152	459	26433										
MDC1	9656	genome.wustl.edu	37	chr6	30681692	30681692	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgggagacaaagggcagagaGacatccaggcgatggtactg	16	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:30681692G>C	ENST00000376406.3	-	3	1052	c.405C>G	c.(403-405)gtC>gtG	p.V135V	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.V135V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	135	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGGGCAGAGAGACATCCAGGC	0.562								Other conserved DNA damage response genes																																									0													70	76	74					6																	30681692		1511	2709	4220	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.405C>G	6.37:g.30681692G>C			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.V135	ENST00000376406.3	37	c.405	CCDS34384.1	6																																																																																			MDC1	-	superfamily_SMAD_FHA_domain		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30681692	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	silent	SNP	0.000	C	C	30681692	G	C	30681692	2	2	153	1	0	0	0	0	0	0	0	1	9426	929	33	1		1	MDC1	6	30681692	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	42777	30681692	140433375	460	26434										
DPCR1	135656	genome.wustl.edu	37	chr6	30917085	30917085	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaatgagctcacacaatctCtagcagagcctacagaacat	6	13	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:30917085C>G	ENST00000462446.1	+	2	872	c.844C>G	c.(844-846)Cta>Gta	p.L282V	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	282	Thr-rich.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACACAATCTCTAGCAGAGCC	0.443																																																	0													80	72	74					6																	30917085		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.844C>G	6.37:g.30917085C>G	ENSP00000417182:p.Leu282Val		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.L282V	ENST00000462446.1	37	c.844	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	c	3.287	-0.145744	0.06627	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.41400	1.0	1.23	0.196	0.15159	.	.	.	.	.	T	0.20780	0.0500	L	0.40543	1.245	0.09310	N	0.999999	P	0.49696	0.927	P	0.56563	0.801	T	0.09509	-1.0671	9	0.13108	T	0.6	.	4.3277	0.11048	0.3891:0.6109:0.0:0.0	.	282	E9PEI6	.	V	282	ENSP00000417182:L282V	ENSP00000411741:L282V	L	+	1	2	DPCR1	31025064	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.327000	0.07955	0.040000	0.15660	0.187000	0.17357	CTA	DPCR1	-	NULL		0.443	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917085	1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.000	G	G	30917085	C	G	30917085	3	3	153	1	0	0	0	0	1	0	0	0	4722	912	32	1	850	1	DPCR1	6	30917085	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	235393	30917085	140197982	461	26435										
HLA-B	3106	genome.wustl.edu	37	chr6	31323001	31323001	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtggactgggaagacggctCtgggaaaggaggggaagatg	21	4	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31323001C>T	ENST00000412585.2	-	5	924		c.e5-1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GAAGACGGCTCTGGGAAAGGA	0.602									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													60	61	61					6																	31323001		1511	2709	4220	SO:0001630	splice_region_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.896-1G>A	6.37:g.31323001C>T			Q29764	Splice_Site	SNP	-	e5-1	ENST00000412585.2	37	c.896-1	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	.	13.81	2.347390	0.41599	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3839	0.49773	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31430980	1.000000	0.71417	0.512000	0.27736	0.299000	0.27559	3.086000	0.50159	1.804000	0.52760	0.442000	0.29010	.	HLA-B	-	-		0.602	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514	Intron	31323001	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	splice_site	SNP	0.931	T	T	31323001	C	T	31323001	5	4	153	1	0	0	0	0	0	0	1	0	7216	927	32	1	205	1	HLA-B	6	31323001	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	405916	31323001	139792066	462	26436										
LTA	4049	genome.wustl.edu	37	chr6	31540806	31540806	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcaaacctgctgctcacctCattggtaaacatccacctga	5	15	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31540806C>T	ENST00000454783.1	+	3	459	c.201C>T	c.(199-201)ctC>ctT	p.L67L	LTA_ENST00000418386.2_Silent_p.L67L|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	67					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTGCTCACCTCATTGGTAAAC	0.607																																																	0													125	80	96					6																	31540806		1511	2709	4220	SO:0001819	synonymous_variant	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.201C>T	6.37:g.31540806C>T			Q8N4C3|Q9UKS8	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c	p.L67	ENST00000454783.1	37	c.201	CCDS4701.1	6																																																																																			LTA	-	superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c		0.607	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA	HGNC	protein_coding	OTTHUMT00000259097.1	C			31540806	1	no_errors	ENST00000418386	ensembl	human	known	70_37	silent	SNP	0.970	T	T	31540806	C	T	31540806	2	4	153	1	0	0	0	0	0	0	0	1	9091	813	29	1		1	LTA	6	31540806	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	217805	31540806	139574261	463	26437										
LY6G6F	259215	genome.wustl.edu	37	chr6	31675808	31675808	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcagtgaggctgccctgctCttggtgtgtcctggggaggg	19	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31675808C>T	ENST00000375832.4	+	3	565	c.543C>T	c.(541-543)ctC>ctT	p.L181L	XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Silent_p.L181L|LY6G6F_ENST00000556581.1_Silent_p.L181L	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTGCCCTGCTCTTGGTGTGTC	0.612																																																	0													110	118	115					6																	31675808		1511	2709	4220	SO:0001819	synonymous_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.543C>T	6.37:g.31675808C>T			B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L181	ENST00000375832.4	37	c.543	CCDS34403.1	6																																																																																			LY6G6F	-	NULL		0.612	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	HGNC	protein_coding	OTTHUMT00000076532.2	C	NM_001003693		31675808	1	no_errors	ENST00000556581	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31675808	C	T	31675808	2	4	153	1	0	0	0	0	0	0	0	1	9119	900	32	1		1	LY6G6F	6	31675808	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	135002	31675808	139439259	464	26438										
EHMT2	10919	genome.wustl.edu	37	chr6	31848581	31848581	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggtggttgatgaagcggctGatgttgccatagtaacgggc	16	6	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31848581G>A	ENST00000375537.4	-	27	3327	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Silent_p.I1130I|EHMT2_ENST00000395728.3_Silent_p.I1164I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.I1073I|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000465707.1_5'Flank|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1107	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAAGCGGCTGATGTTGCCAT	0.572																																																	0													165	119	135					6																	31848581		2203	4300	6503	SO:0001819	synonymous_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3321C>T	6.37:g.31848581G>A			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.I1164	ENST00000375537.4	37	c.3492	CCDS4725.1	6																																																																																			EHMT2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	G	NM_006709		31848581	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31848581	G	A	31848581	2	1	153	1	0	0	0	0	0	0	0	1	4994	1280	45	1		1	EHMT2	6	31848581	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	172773	31848581	139266486	465	26439										
AGER	177	genome.wustl.edu	37	chr6	32148988	32148988	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attcagttctgcacgctcctCctcttcctcctggttttctg	6	15	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:32148988C>G	ENST00000375076.4	-	11	1248	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G331A|AGER_ENST00000375070.3_Missense_Mutation_p.E414Q|AGER_ENST00000375069.3_Missense_Mutation_p.E273Q|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000438221.2_3'UTR|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	383	Poly-Glu.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GCACGCTCCTCCTCTTCCTCC	0.602																																																	0													156	165	162					6																	32148988		2203	4300	6503	SO:0001583	missense	177			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1147G>C	6.37:g.32148988C>G	ENSP00000364217:p.Glu383Gln		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E414Q	ENST00000375076.4	37	c.1240	CCDS4746.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998494|3.998494	0.74818|0.74818	.|.	.|.	ENSG00000204305|ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059|ENST00000375067	T;T;T|D	0.40225|0.86694	1.04;1.04;1.04|-2.16	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.79822|0.79822	0.4512|0.4512	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D|P	0.89917|0.43094	1.0;0.998;1.0;0.998|0.799	D;D;D;D|P	0.91635|0.44647	0.999;0.991;0.994;0.991|0.456	D|D	0.84142|0.84142	0.0418|0.0418	10|9	0.87932|0.87932	D|D	0|0	-26.0128|-26.0128	14.4774|14.4774	0.67557|0.67557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;369;399;383|331	A8MS87;Q3L1R5;Q3L1R8;Q15109|Q15109-2	.;.;.;RAGE_HUMAN|.	Q|A	383;414;132;273;112|331	ENSP00000364217:E383Q;ENSP00000364211:E414Q;ENSP00000364210:E273Q|ENSP00000364208:G331A	ENSP00000364199:E112Q|ENSP00000364208:G331A	E|G	-|-	1|2	0|0	AGER|AGER	32256966|32256966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	4.269000|4.269000	0.58890|0.58890	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAG|GGA	AGER	-	NULL		0.602	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	C	NM_001136		32148988	-1	no_errors	ENST00000375070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32148988	C	G	32148988	3	3	153	1	0	0	0	0	1	0	0	0	379	864	30	1	71	1	AGER	6	32148988	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	300407	32148988	138966079	466	26440										
AGER	177	genome.wustl.edu	37	chr6	32149006	32149006	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcctcttcctcctggttttCtggggccttcctgaggagaa	10	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:32149006C>T	ENST00000375076.4	-	11	1230	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.R325K|AGER_ENST00000375070.3_Missense_Mutation_p.E408K|AGER_ENST00000375069.3_Missense_Mutation_p.E267K|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000438221.2_3'UTR|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	377					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTGGTTTTCTGGGGCCTTC	0.607																																																	0													135	145	141					6																	32149006		2203	4300	6503	SO:0001583	missense	177			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1129G>A	6.37:g.32149006C>T	ENSP00000364217:p.Glu377Lys		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E408K	ENST00000375076.4	37	c.1222	CCDS4746.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.211169|3.211169	0.58343|0.58343	.|.	.|.	ENSG00000204305|ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059|ENST00000375067	T;T;T|D	0.38887|0.84944	1.11;1.11;1.11|-1.92	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.67287|0.67287	0.2877|0.2877	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D|P	0.76494|0.37330	0.999;0.993;0.999;0.993|0.59	D;D;D;D|B	0.87578|0.32465	0.998;0.978;0.991;0.978|0.146	T|T	0.69815|0.69815	-0.5043|-0.5043	10|8	0.62326|.	D|.	0.03|.	-19.1327|-19.1327	14.4774|14.4774	0.67557|0.67557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267;363;393;377|325	A8MS87;Q3L1R5;Q3L1R8;Q15109|Q15109-2	.;.;.;RAGE_HUMAN|.	K|K	377;408;126;267;106|325	ENSP00000364217:E377K;ENSP00000364211:E408K;ENSP00000364210:E267K|ENSP00000364208:R325K	ENSP00000364199:E106K|.	E|R	-|-	1|2	0|0	AGER|AGER	32256984|32256984	0.994000|0.994000	0.37717|0.37717	0.986000|0.986000	0.45419|0.45419	0.883000|0.883000	0.51084|0.51084	4.269000|4.269000	0.58890|0.58890	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAA|AGA	AGER	-	NULL		0.607	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	C	NM_001136		32149006	-1	no_errors	ENST00000375070	ensembl	human	known	70_37	missense	SNP	0.647	T	T	32149006	C	T	32149006	3	4	153	1	0	0	0	0	1	0	0	0	379	922	32	1	89	1	AGER	6	32149006	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	18	32149006	138966061	467	26441										
HSD17B8	7923	genome.wustl.edu	37	chr6	33173928	33173928	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagattactgaaatgatcccGatgggacacttgggggaccc	12	10	0	3	rs553229947		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33173928G>A	ENST00000374662.3	+	7	696	c.669G>A	c.(667-669)ccG>ccA	p.P223P	HSD17B8_ENST00000469186.1_3'UTR|RING1_ENST00000374656.4_5'Flank|MIR219-1_ENST00000362166.1_RNA	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	223					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						AAATGATCCCGATGGGACACT	0.458																																																	0													40	47	45					6																	33173928		1509	2708	4217	SO:0001819	synonymous_variant	7923			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	3554	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 30C, member 1"	601417	"FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.669G>A	6.37:g.33173928G>A			A6NLX7|Q5STP7|Q9UIQ1	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH,prints_ADH_insect	p.P223	ENST00000374662.3	37	c.669	CCDS4769.1	6																																																																																			HSD17B8	-	prints_Glc/ribitol_DH,prints_DHB_DH		0.458	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B8	HGNC	protein_coding	OTTHUMT00000076196.1	G	NM_014234		33173928	1	no_errors	ENST00000374662	ensembl	human	known	70_37	silent	SNP	0.365	A	A	33173928	G	A	33173928	2	1	153	1	0	0	0	0	0	0	0	1	7409	1045	37	1		1	HSD17B8	6	33173928	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1024922	33173928	137941139	468	26442										
CUTA	8831	genome.wustl.edu	37	chr6	33385937	33385937	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaggaccacctgcgcctccaGagccagccaatcccgaccct	8	19	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33385937G>A	ENST00000418600.2	+	0	0				CUTA_ENST00000607266.1_5'Flank|CUTA_ENST00000494751.1_5'Flank|CUTA_ENST00000488478.1_5'Flank|CUTA_ENST00000374496.3_5'Flank|CUTA_ENST00000488034.1_5'Flank|CUTA_ENST00000492510.1_5'UTR|CUTA_ENST00000374500.5_Missense_Mutation_p.S9F|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000440279.3_5'Flank	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCGCCTCCAGAGCCAGCCAA	0.587																																																	0													67	72	70					6																	33385937		2203	4300	6503	SO:0001631	upstream_gene_variant	51596			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096		6.37:g.33385937G>A	Exception_encountered		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.S9F	ENST00000418600.2	37	c.26	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609513	0.28623	.	.	ENSG00000112514	ENST00000374500	.	.	.	4.79	-3.08	0.05347	.	2.209690	0.01579	N	0.020975	T	0.12774	0.0310	.	.	.	0.20307	N	0.999912	B	0.06786	0.001	B	0.04013	0.001	T	0.36065	-0.9763	8	0.87932	D	0	3.3292	6.2684	0.20941	0.3347:0.401:0.2643:0.0	.	9	O60888-2	.	F	9	.	ENSP00000363624:S9F	S	-	2	0	CUTA	33493915	0.000000	0.05858	0.011000	0.14972	0.611000	0.37282	-0.344000	0.07780	-0.557000	0.06126	0.563000	0.77884	TCT	CUTA	-	NULL		0.587	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33385937	-1	no_errors	ENST00000374500	ensembl	human	known	70_37	missense	SNP	0.000	A	A	33385937	G	A	33385937	1	1	153	0	1	0	0	0	0	0	0	0	4067	942	33	1		1	CUTA	6	33385937	5'Flank	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	212009	33385937	137729130	469	26443										
ANKS1A	23294	genome.wustl.edu	37	chr6	35021879	35021879	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctttcttccatttcagattGagaaaatcatgagttctatt	5	7	5	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:35021879G>T	ENST00000360359.3	+	12	2152	c.2014G>T	c.(2014-2016)Gag>Tag	p.E672*	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	672					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTTCAGATTGAGAAAATCAT	0.488																																																	0													97	90	92					6																	35021879		2203	4300	6503	SO:0001587	stop_gained	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2014G>T	6.37:g.35021879G>T	ENSP00000353518:p.Glu672*		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.E672*	ENST00000360359.3	37	c.2014	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.222924	0.98714	.	.	ENSG00000064999	ENST00000360359	.	.	.	4.9	4.9	0.64082	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-30.1009	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	672	.	ENSP00000353518:E672X	E	+	1	0	ANKS1A	35129857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.969000	0.93411	2.691000	0.91804	0.655000	0.94253	GAG	ANKS1A	-	NULL		0.488	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	G	XM_166478		35021879	1	no_errors	ENST00000360359	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	35021879	G	T	35021879	4	4	153	1	0	0	0	0	0	1	0	0	688	1291	45	3	2060	3	ANKS1A	6	35021879	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1635942	35021879	136093188	470	26444										
SCUBE3	222663	genome.wustl.edu	37	chr6	35210024	35210024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caacgggcctccttcaagatCaaggatgccaaatgccgttt	9	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:35210024C>G	ENST00000274938.7	+	13	1461	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	SCUBE3_ENST00000394681.1_Missense_Mutation_p.I503M	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCTTCAAGATCAAGGATGCCA	0.547																																																	0													132	129	130					6																	35210024		2203	4300	6503	SO:0001583	missense	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1461C>G	6.37:g.35210024C>G	ENSP00000274938:p.Ile487Met			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin	p.I503M	ENST00000274938.7	37	c.1509	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466880	0.43839	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.83914	-1.33;-1.78	4.77	3.88	0.44766	.	0.050366	0.85682	D	0.000000	D	0.83613	0.5292	M	0.66939	2.045	0.48571	D	0.999672	D;D	0.63880	0.993;0.988	P;P	0.62298	0.9;0.691	T	0.82910	-0.0223	10	0.41790	T	0.15	.	8.8796	0.35367	0.1491:0.771:0.0:0.0799	.	503;487	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	M	503;487	ENSP00000378174:I503M;ENSP00000274938:I487M	ENSP00000274938:I487M	I	+	3	3	SCUBE3	35318002	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.675000	0.37555	2.359000	0.80004	0.650000	0.86243	ATC	SCUBE3	-	NULL		0.547	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	C	NM_152753		35210024	1	no_errors	ENST00000394681	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35210024	C	G	35210024	3	3	153	1	0	0	0	0	1	0	0	0	13976	816	29	1	1511	1	SCUBE3	6	35210024	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	188145	35210024	135905043	471	26445										
FGD2	221472	genome.wustl.edu	37	chr6	36993679	36993679	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcactggaaatgtgctgcctGaggccaaggaggacaagagg	15	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:36993679G>C	ENST00000274963.8	+	14	1741	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	524					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGTGCTGCCTGAGGCCAAGGA	0.617																																																	0													109	82	91					6																	36993679		2203	4300	6503	SO:0001583	missense	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1570G>C	6.37:g.36993679G>C	ENSP00000274963:p.Glu524Gln		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E524Q	ENST00000274963.8	37	c.1570	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698877	0.15106	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59638	0.25	5.2	4.32	0.51571	.	0.365823	0.19673	N	0.108687	T	0.40067	0.1102	L	0.52364	1.645	0.26917	N	0.966757	B;B	0.30793	0.014;0.295	B;B	0.40410	0.007;0.328	T	0.43893	-0.9363	10	0.15499	T	0.54	-13.0115	15.9543	0.79871	0.0:0.1351:0.8649:0.0	.	524;101	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	Q	524;152	ENSP00000274963:E524Q	ENSP00000274963:E524Q	E	+	1	0	FGD2	37101657	0.785000	0.28726	0.148000	0.22405	0.079000	0.17450	1.726000	0.38085	1.305000	0.44909	0.563000	0.77884	GAG	FGD2	-	NULL		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	G	NM_173558		36993679	1	no_errors	ENST00000274963	ensembl	human	known	70_37	missense	SNP	0.979	C	C	36993679	G	C	36993679	3	2	153	1	0	0	0	0	1	0	0	0	5851	1291	45	1	1624	1	FGD2	6	36993679	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1783655	36993679	134121388	472	26446										
DNAH8	1769	genome.wustl.edu	37	chr6	38794087	38794087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacctattcgtgatttagatGatgtcagatttgcaatggaa	10	5	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:38794087G>A	ENST00000359357.3	+	27	3606	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1118N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1335N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1118					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATTTAGATGATGTCAGATT	0.308																																																	0													113	110	111					6																	38794087		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3352G>A	6.37:g.38794087G>A	ENSP00000352312:p.Asp1118Asn		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D1118N	ENST00000359357.3	37	c.3352		6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876717	0.91664	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27104	1.74;1.75;1.69	5.44	5.44	0.79542	.	0.122953	0.64402	D	0.000020	T	0.50599	0.1625	M	0.87827	2.91	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.54675	-0.8258	10	0.48119	T	0.1	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	1118	Q96JB1	DYH8_HUMAN	N	1323;1323;1118;1118	ENSP00000333363:D1323N;ENSP00000352312:D1118N;ENSP00000402294:D1118N	ENSP00000333363:D1323N	D	+	1	0	DNAH8	38902065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.395000	0.79876	2.587000	0.87381	0.545000	0.68477	GAT	DNAH8	-	NULL		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38794087	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38794087	G	A	38794087	3	1	153	1	0	0	0	0	1	0	0	0	4617	1290	45	1	3450	1	DNAH8	6	38794087	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1800408	38794087	132320980	473	26447										
DNAH8	1769	genome.wustl.edu	37	chr6	38897371	38897371	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccttctcattgaggacattCatgaagagctggatccagcc	9	12	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:38897371C>G	ENST00000359357.3	+	73	10806	c.10552C>G	c.(10552-10554)Cat>Gat	p.H3518D	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.H3482D|DNAH8_ENST00000449981.2_Missense_Mutation_p.H3735D|RP1-207H1.3_ENST00000453417.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3518	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGGACATTCATGAAGAGCT	0.383																																																	0													116	113	114					6																	38897371		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10552C>G	6.37:g.38897371C>G	ENSP00000352312:p.His3518Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H3518D	ENST00000359357.3	37	c.10552		6	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510212	0.44660	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20069	2.1;2.1;2.1	5.65	4.78	0.61160	.	0.189060	0.44902	D	0.000419	T	0.01189	0.0039	N	0.00176	-1.92	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	10	0.25106	T	0.35	.	4.539	0.12047	0.1349:0.526:0.2579:0.0812	.	3518	Q96JB1	DYH8_HUMAN	D	3723;3723;3518;3482	ENSP00000333363:H3723D;ENSP00000352312:H3518D;ENSP00000402294:H3482D	ENSP00000333363:H3723D	H	+	1	0	DNAH8	39005349	0.784000	0.28713	0.984000	0.44739	0.977000	0.68977	0.933000	0.28897	2.649000	0.89929	0.555000	0.69702	CAT	DNAH8	-	NULL		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38897371	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	0.976	G	G	38897371	C	G	38897371	3	3	153	1	0	0	0	0	1	0	0	0	4617	826	29	1	10834	1	DNAH8	6	38897371	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	103284	38897371	132217696	474	26448										
KCNK16	83795	genome.wustl.edu	37	chr6	39282796	39282796	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctcagcttcccagtcctttCttggatatggggaagtcctg	10	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:39282796C>T	ENST00000373229.5	-	6	925	c.912G>A	c.(910-912)aaG>aaA	p.K304K	KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000373227.4_Silent_p.K257K|KCNK16_ENST00000507712.1_Silent_p.K192K|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	304					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGTCCTTTCTTGGATATGG	0.587																																																	0													149	135	140					6																	39282796		2203	4300	6503	SO:0001819	synonymous_variant	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.912G>A	6.37:g.39282796C>T			B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.K304	ENST00000373229.5	37	c.912	CCDS4843.1	6																																																																																			KCNK16	-	NULL		0.587	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	C	NM_032115		39282796	-1	no_errors	ENST00000373229	ensembl	human	known	70_37	silent	SNP	0.000	T	T	39282796	C	T	39282796	2	4	153	1	0	0	0	0	0	0	0	1	8083	912	32	1		1	KCNK16	6	39282796	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	385425	39282796	131832271	475	26449										
BYSL	705	genome.wustl.edu	37	chr6	41889361	41889361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaaacatgcgcccctggccGatcagatcctggctgggaat	11	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:41889361G>A	ENST00000230340.4	+	1	436	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MED20_ENST00000409312.1_5'Flank|MED20_ENST00000409060.1_5'Flank|MED20_ENST00000467535.1_5'Flank|MED20_ENST00000265350.4_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	21					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCCTGGCCGATCAGATCCT	0.652											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	18	17					6																	41889361		2195	4284	6479	SO:0001583	missense	705			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.61G>A	6.37:g.41889361G>A	ENSP00000230340:p.Asp21Asn	904	Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	pfam_Bystin	p.D21N	ENST00000230340.4	37	c.61	CCDS34450.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077153	0.76415	.	.	ENSG00000112578	ENST00000230340	T	0.21031	2.03	4.87	4.87	0.63330	.	0.322164	0.32548	N	0.005947	T	0.11110	0.0271	L	0.47716	1.5	0.50813	D	0.99989	B	0.28783	0.222	B	0.21151	0.033	T	0.03493	-1.1031	10	0.32370	T	0.25	-22.1692	17.8026	0.88592	0.0:0.0:1.0:0.0	.	21	Q13895	BYST_HUMAN	N	21	ENSP00000230340:D21N	ENSP00000230340:D21N	D	+	1	0	BYSL	41997339	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	8.272000	0.89885	2.517000	0.84864	0.655000	0.94253	GAT	BYSL	-	NULL		0.652	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BYSL	HGNC	protein_coding	OTTHUMT00000040535.2	G			41889361	1	no_errors	ENST00000230340	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41889361	G	A	41889361	3	1	153	1	0	0	0	0	1	0	0	0	1579	1058	37	1	63	1	BYSL	6	41889361	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2606565	41889361	129225706	476	26450										
GUCA1A	2978	genome.wustl.edu	37	chr6	42141390	42141390	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaaagtcagtggaggagctGagcagcaccgagtgccacca	15	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42141390G>A	ENST00000394237.1	+	3	1015	c.39G>A	c.(37-39)ctG>ctA	p.L13L	GUCA1A_ENST00000372958.1_Silent_p.L13L|GUCA1A_ENST00000541991.1_Silent_p.L13L|GUCA1A_ENST00000053469.4_Silent_p.L13L			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	13					phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGAGGAGCTGAGCAGCACCG	0.592																																																	0													143	116	125					6																	42141390		2203	4300	6503	SO:0001819	synonymous_variant	2978				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.39G>A	6.37:g.42141390G>A			B3KWT4|Q7Z6T1|Q9NU14	Silent	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.L13	ENST00000394237.1	37	c.39	CCDS4864.1	6																																																																																			GUCA1A	-	prints_Recoverin		0.592	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCA1A	HGNC	protein_coding	OTTHUMT00000316582.1	G			42141390	1	no_errors	ENST00000053469	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42141390	G	A	42141390	2	1	153	1	0	0	0	0	0	0	0	1	6908	1277	45	1		1	GUCA1A	6	42141390	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	252029	42141390	128973677	477	26451										
UBR2	23304	genome.wustl.edu	37	chr6	42600322	42600322	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcacagaagaaaacttaatGagcattatcattaagacttt	5	6	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42600322G>A	ENST00000372899.1	+	12	1572	c.1314G>A	c.(1312-1314)atG>atA	p.M438I	UBR2_ENST00000372901.1_Missense_Mutation_p.M438I|UBR2_ENST00000372883.3_5'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	438					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAACTTAATGAGCATTATCA	0.343																																																	0													50	51	50					6																	42600322		2203	4299	6502	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1314G>A	6.37:g.42600322G>A	ENSP00000361990:p.Met438Ile		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M438I	ENST00000372899.1	37	c.1314	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641963	0.29157	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.46063	0.88;0.88	5.33	5.33	0.75918	.	0.076041	0.85682	D	0.000000	T	0.22322	0.0538	L	0.35487	1.065	0.80722	D	1	B;B	0.21520	0.057;0.0	B;B	0.18561	0.022;0.001	T	0.02893	-1.1097	10	0.28530	T	0.3	-2.305	19.3867	0.94560	0.0:0.0:1.0:0.0	.	438;438	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	I	438	ENSP00000361990:M438I;ENSP00000361992:M438I	ENSP00000361990:M438I	M	+	3	0	UBR2	42708300	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.471000	0.97696	2.641000	0.89580	0.563000	0.77884	ATG	UBR2	-	NULL		0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42600322	1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42600322	G	A	42600322	3	1	153	1	0	0	0	0	1	0	0	0	16933	1290	45	1	1506	1	UBR2	6	42600322	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	458932	42600322	128514745	478	26452										
UBR2	23304	genome.wustl.edu	37	chr6	42600337	42600337	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttaatgagcattatcattaaGacttttatggatcatttgag	7	4	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42600337G>A	ENST00000372899.1	+	12	1587	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	UBR2_ENST00000372901.1_Silent_p.K443K|UBR2_ENST00000372883.3_5'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	443					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTATCATTAAGACTTTTATGG	0.373																																																	0													60	60	60					6																	42600337		2203	4299	6502	SO:0001819	synonymous_variant	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1329G>A	6.37:g.42600337G>A			O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.K443	ENST00000372899.1	37	c.1329	CCDS4870.1	6																																																																																			UBR2	-	NULL		0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42600337	1	no_errors	ENST00000372899	ensembl	human	known	70_37	silent	SNP	0.995	A	A	42600337	G	A	42600337	2	1	153	1	0	0	0	0	0	0	0	1	16933	933	33	1		1	UBR2	6	42600337	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	15	42600337	128514730	479	26453										
PRPH2	5961	genome.wustl.edu	37	chr6	42672348	42672348	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccacgttgctcttgattcGacttaaagggaaacagacag	9	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42672348G>C	ENST00000230381.5	-	2	822	c.583C>G	c.(583-585)Cga>Gga	p.R195G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	195			R -> L (in CACD2; dbSNP:rs121918567). {ECO:0000269|PubMed:16832026}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTCTTGATTCGACTTAAAGGG	0.567																																																	0													93	84	87					6																	42672348		2203	4300	6503	SO:0001630	splice_region_variant	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.582-1C>G	6.37:g.42672348G>C			Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.R195G	ENST00000230381.5	37	c.583	CCDS4871.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960095	0.92791	.	.	ENSG00000112619	ENST00000230381	T	0.03745	3.82	5.1	5.1	0.69264	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.01273	-1.1399	10	0.87932	D	0	.	18.5136	0.90926	0.0:0.0:1.0:0.0	.	195	P23942	PRPH2_HUMAN	G	195	ENSP00000230381:R195G	ENSP00000230381:R195G	R	-	1	2	PRPH2	42780326	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	9.799000	0.99117	2.383000	0.81215	0.655000	0.94253	CGA	PRPH2	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.567	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH2	HGNC	protein_coding	OTTHUMT00000040556.1	G	NM_000322	Missense_Mutation	42672348	-1	no_errors	ENST00000230381	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42672348	G	C	42672348	5	2	153	1	0	0	0	0	0	0	1	0	12604	1072	37	1	465	1	PRPH2	6	42672348	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	72011	42672348	128442719	480	26454										
KIAA0240	23506	genome.wustl.edu	37	chr6	42823607	42823607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctttaggtggagagtcattCgggaggacaaaaaaggcctg	14	6	2	1	rs143045076	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42823607C>T	ENST00000314073.5	+	9	2236	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S687L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	687								p.S687L(1)									GAGAGTCATTCGGGAGGACAA	0.373																																																	1	Substitution - Missense(1)	skin(1)						C	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	110	117	114		2060	4.9	0.9	6	dbSNP_134	114	0,8600		0,0,4300	yes	missense	KIAA0240	NM_015349.1	145	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	687/1080	42823607	3,13003	2203	4300	6503	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2060C>T	6.37:g.42823607C>T	ENSP00000313933:p.Ser687Leu		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.S687L	ENST00000314073.5	37	c.2060	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067674	0.07273	6.81E-4	0.0	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.41400	1.0;1.0	5.78	4.92	0.64577	.	0.939261	0.08926	N	0.873751	T	0.10465	0.0256	N	0.15975	0.35	0.26237	N	0.978921	B	0.09022	0.002	B	0.04013	0.001	T	0.26189	-1.0110	10	0.24483	T	0.36	0.171	7.8843	0.29640	0.0:0.7839:0.0:0.2161	.	687	Q6AI39	K0240_HUMAN	L	687	ENSP00000313933:S687L;ENSP00000377723:S687L	ENSP00000313933:S687L	S	+	2	0	KIAA0240	42931585	0.002000	0.14202	0.858000	0.33744	0.849000	0.48306	0.768000	0.26590	1.594000	0.50039	-0.218000	0.12543	TCG	KIAA0240	-	NULL		0.373	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	C	NM_015349		42823607	1	no_errors	ENST00000314073	ensembl	human	known	70_37	missense	SNP	0.897	T	T	42823607	C	T	42823607	3	4	153	1	0	0	0	0	1	0	0	0	8184	893	31	1	2086	1	KIAA0240	6	42823607	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	151259	42823607	128291460	481	26455										
ZNF318	24149	genome.wustl.edu	37	chr6	43323475	43323475	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atagagaaatttctcctcatCttcaatgtcgggaaagctac	7	9	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:43323475C>T	ENST00000361428.2	-	4	1674	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	ZNF318_ENST00000318149.3_Missense_Mutation_p.D533N	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	533					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCCTCATCTTCAATGTCG	0.473																																																	0													214	221	219					6																	43323475		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1597G>A	6.37:g.43323475C>T	ENSP00000354964:p.Asp533Asn		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.D533N	ENST00000361428.2	37	c.1597	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442705	0.63067	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03065	4.06;4.06	6.17	6.17	0.99709	.	0.055346	0.64402	D	0.000001	T	0.06735	0.0172	L	0.32530	0.975	0.53005	D	0.999962	D	0.89917	1.0	D	0.85130	0.997	T	0.37957	-0.9683	10	0.48119	T	0.1	-15.4522	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	533	Q5VUA4	ZN318_HUMAN	N	533	ENSP00000323032:D533N;ENSP00000354964:D533N	ENSP00000323032:D533N	D	-	1	0	ZNF318	43431453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.508000	0.67006	2.941000	0.99782	0.655000	0.94253	GAT	ZNF318	-	NULL		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43323475	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43323475	C	T	43323475	3	4	153	1	0	0	0	0	1	0	0	0	17866	913	32	1	5270	1	ZNF318	6	43323475	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	499868	43323475	127791592	482	26456										
ZNF318	24149	genome.wustl.edu	37	chr6	43325332	43325332	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacagctcatcatgacaactGatatggggactataatcaga	8	8	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:43325332G>A	ENST00000361428.2	-	3	797	c.720C>T	c.(718-720)atC>atT	p.I240I	ZNF318_ENST00000318149.3_Silent_p.I240I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	240					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATGACAACTGATATGGGGAC	0.488																																																	0													104	96	98					6																	43325332		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.720C>T	6.37:g.43325332G>A			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.I240	ENST00000361428.2	37	c.720	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	G	NM_014345		43325332	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	0.959	A	A	43325332	G	A	43325332	2	1	153	1	0	0	0	0	0	0	0	1	17866	1280	45	1		1	ZNF318	6	43325332	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1857	43325332	127789735	483	26457										
SLC29A1	2030	genome.wustl.edu	37	chr6	44201202	44201202	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaggagccatcatggccttCttcctgtgtctgggtctggc	13	12	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:44201202C>T	ENST00000393841.1	+	14	1799	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	SLC29A1_ENST00000371724.1_Silent_p.F436F|SLC29A1_ENST00000313248.7_Silent_p.F515F|SLC29A1_ENST00000427851.2_Silent_p.F436F|SLC29A1_ENST00000371713.1_Silent_p.F436F|SLC29A1_ENST00000371708.1_Silent_p.F436F|SLC29A1_ENST00000371731.1_Silent_p.F436F|SLC29A1_ENST00000393844.1_Silent_p.F436F|SLC29A1_ENST00000371740.5_Silent_p.F436F|SLC29A1_ENST00000371755.3_Silent_p.F436F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	436					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCATGGCCTTCTTCCTGTGTC	0.587																																																	0													177	161	166					6																	44201202		2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1308C>T	6.37:g.44201202C>T			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.F515	ENST00000393841.1	37	c.1545	CCDS4908.1	6																																																																																			SLC29A1	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt		0.587	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	C			44201202	1	no_errors	ENST00000313248	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44201202	C	T	44201202	2	4	153	1	0	0	0	0	0	0	0	1	14564	912	32	1		1	SLC29A1	6	44201202	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	875870	44201202	126913865	484	26458										
TDRD6	221400	genome.wustl.edu	37	chr6	46657383	46657383	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgagttttggattaggttGaggaaacacaatgtcacctt	10	6	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:46657383G>T	ENST00000316081.6	+	1	1518	c.1518G>T	c.(1516-1518)ttG>ttT	p.L506F	TDRD6_ENST00000544460.1_Missense_Mutation_p.L506F|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	506					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATTAGGTTGAGGAAACACA	0.418																																																	0													114	109	111					6																	46657383		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1518G>T	6.37:g.46657383G>T	ENSP00000346065:p.Leu506Phe		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L506F	ENST00000316081.6	37	c.1518	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681790	0.47991	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09817	2.94;2.94	5.88	4.99	0.66335	Maternal tudor protein (1);	0.421479	0.23049	N	0.052519	T	0.14787	0.0357	M	0.78637	2.42	0.32198	N	0.578245	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.10177	-1.0641	10	0.11182	T	0.66	-5.7504	9.0052	0.36106	0.0:0.1777:0.5559:0.2664	.	506;506	F5H5M3;O60522	.;TDRD6_HUMAN	F	506	ENSP00000443299:L506F;ENSP00000346065:L506F	ENSP00000346065:L506F	L	+	3	2	TDRD6	46765342	0.926000	0.31397	0.999000	0.59377	0.994000	0.84299	0.543000	0.23237	1.424000	0.47217	0.655000	0.94253	TTG	TDRD6	-	pfam_Tudor		0.418	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46657383	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.930	T	T	46657383	G	T	46657383	3	4	153	1	0	0	0	0	1	0	0	0	15764	1281	45	3	1520	3	TDRD6	6	46657383	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2456181	46657383	124457684	485	26459										
GPR116	221395	genome.wustl.edu	37	chr6	46827113	46827113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtttgggagaaggacaaagGagggctatctcccgactgta	14	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:46827113G>T	ENST00000283296.7	-	17	2815	c.2527C>A	c.(2527-2529)Cct>Act	p.P843T	GPR116_ENST00000456426.2_Missense_Mutation_p.P701T|GPR116_ENST00000545669.1_Missense_Mutation_p.P272T|GPR116_ENST00000265417.7_Missense_Mutation_p.P843T|GPR116_ENST00000362015.4_Missense_Mutation_p.P843T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	843					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGACAAAGGAGGGCTATCT	0.448																																					NSCLC(59;410 1274 8751 36715 50546)												0													59	55	57					6																	46827113		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2527C>A	6.37:g.46827113G>T	ENSP00000283296:p.Pro843Thr		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.P843T	ENST00000283296.7	37	c.2527	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.024330	0.02061	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.22	-10.4	0.00318	.	1.452940	0.04445	N	0.371515	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.31485	0.325;0.006;0.091;0.029;0.091	B;B;B;B;B	0.27076	0.076;0.008;0.016;0.03;0.016	T	0.14924	-1.0455	10	0.09590	T	0.72	7.8935	1.3537	0.02178	0.4162:0.1929:0.0985:0.2924	.	272;398;843;701;843	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	843;843;843;701;214;843;272	ENSP00000283296:P843T;ENSP00000354563:P843T;ENSP00000412866:P701T;ENSP00000265417:P843T;ENSP00000441581:P272T	ENSP00000265417:P843T	P	-	1	0	GPR116	46935072	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.967000	0.01508	-3.104000	0.00243	-1.102000	0.02115	CCT	GPR116	-	NULL		0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	G	NM_015234		46827113	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.000	T	T	46827113	G	T	46827113	3	4	153	1	0	0	0	0	1	0	0	0	6652	1174	41	3	1533	3	GPR116	6	46827113	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	169730	46827113	124287954	486	26460										
GSTA3	2940	genome.wustl.edu	37	chr6	52770548	52770548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctaacttagaacatacctCcactccagctgcagccaaga	5	15	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:52770548C>T	ENST00000211122.3	-	2	150	c.85G>A	c.(85-87)Gag>Aag	p.E29K	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	29	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GAACATACCTCCACTCCAGCT	0.463																																																	0													86	79	82					6																	52770548		2203	4300	6503	SO:0001583	missense	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.85G>A	6.37:g.52770548C>T	ENSP00000211122:p.Glu29Lys		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E29K	ENST00000211122.3	37	c.85	CCDS4947.1	6	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571375	0.45798	.	.	ENSG00000174156	ENST00000211122	T	0.15256	2.44	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.129657	0.50627	D	0.000116	T	0.15176	0.0366	L	0.61218	1.895	0.36301	D	0.857024	P	0.39920	0.695	B	0.43701	0.428	T	0.06320	-1.0833	10	0.62326	D	0.03	.	15.1445	0.72641	0.0:1.0:0.0:0.0	.	29	Q16772	GSTA3_HUMAN	K	29	ENSP00000211122:E29K	ENSP00000211122:E29K	E	-	1	0	GSTA3	52878507	0.993000	0.37304	0.725000	0.30721	0.870000	0.49936	3.175000	0.50855	2.077000	0.62373	0.655000	0.94253	GAG	GSTA3	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha		0.463	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	C			52770548	-1	no_errors	ENST00000211122	ensembl	human	known	70_37	missense	SNP	0.970	T	T	52770548	C	T	52770548	3	4	153	1	0	0	0	0	1	0	0	0	6852	864	30	1	607	1	GSTA3	6	52770548	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5943435	52770548	118344519	487	26461										
EYS	346007	genome.wustl.edu	37	chr6	66205254	66205254	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgtttttccatttatgaaaGagctgtgaaaaaccatcagg	8	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:66205254G>A	ENST00000370621.3	-	4	576	c.50C>T	c.(49-51)tCt>tTt	p.S17F	EYS_ENST00000342421.5_Missense_Mutation_p.S17F|EYS_ENST00000370618.3_Missense_Mutation_p.S17F|EYS_ENST00000503581.1_Missense_Mutation_p.S17F|EYS_ENST00000393380.2_Missense_Mutation_p.S17F|EYS_ENST00000370616.2_Missense_Mutation_p.S17F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	17					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTATGAAAGAGCTGTGAAA	0.383																																																	0													70	70	70					6																	66205254		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.50C>T	6.37:g.66205254G>A	ENSP00000359655:p.Ser17Phe		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S17F	ENST00000370621.3	37	c.50		6	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113000	0.20795	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90197	-1.65;-1.64;-1.64;-2.63;-2.59;-2.59	4.76	-2.2	0.06994	.	.	.	.	.	T	0.56470	0.1987	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.004;0.017;0.01	B;B;B	0.15052	0.005;0.012;0.005	T	0.50617	-0.8807	9	0.37606	T	0.19	.	1.4219	0.02314	0.3341:0.237:0.3086:0.1203	.	17;17;17	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	F	17	ENSP00000424243:S17F;ENSP00000359655:S17F;ENSP00000359650:S17F;ENSP00000377042:S17F;ENSP00000341818:S17F;ENSP00000359652:S17F	ENSP00000341818:S17F	S	-	2	0	EYS	66261975	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.463000	0.06696	-0.436000	0.07254	-0.293000	0.09583	TCT	EYS	-	NULL		0.383	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		66205254	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.000	A	A	66205254	G	A	66205254	3	1	153	1	0	0	0	0	1	0	0	0	5344	942	33	1	9506	1	EYS	6	66205254	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	13434706	66205254	104909813	488	26462										
BAI3	577	genome.wustl.edu	37	chr6	69728301	69728301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agatttatccagggtcaataGagttaatgcaggtgattgaa	11	4	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:69728301G>C	ENST00000370598.1	+	13	2838	c.2017G>C	c.(2017-2019)Gag>Cag	p.E673Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	673					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGGTCAATAGAGTTAATGCA	0.294																																																	0													122	129	127					6																	69728301		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2017G>C	6.37:g.69728301G>C	ENSP00000359630:p.Glu673Gln		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E673Q	ENST00000370598.1	37	c.2017	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570757	0.86542	.	.	ENSG00000135298	ENST00000370598	T	0.09817	2.94	6.08	6.08	0.98989	Domain of unknown function DUF3497 (1);	0.058601	0.64402	D	0.000002	T	0.14184	0.0343	L	0.47716	1.5	0.80722	D	1	D	0.57257	0.979	P	0.57204	0.815	T	0.05115	-1.0905	10	0.17369	T	0.5	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	673	O60242	BAI3_HUMAN	Q	673	ENSP00000359630:E673Q	ENSP00000359630:E673Q	E	+	1	0	BAI3	69785022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.474000	0.97718	2.894000	0.99253	0.591000	0.81541	GAG	BAI3	-	pfam_DUF3497		0.294	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69728301	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69728301	G	C	69728301	3	2	153	1	0	0	0	0	1	0	0	0	1301	943	33	1	2059	1	BAI3	6	69728301	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3523047	69728301	101386766	489	26463										
RIMS1	22999	genome.wustl.edu	37	chr6	72678707	72678707	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtgttgtcagggacatggcGaagcctgctgcctgcaaaac	13	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:72678707G>A	ENST00000521978.1	+	2	186	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RIMS1_ENST00000348717.5_Silent_p.A62A|RIMS1_ENST00000517960.1_Silent_p.A62A|RIMS1_ENST00000520567.1_Silent_p.A62A|RIMS1_ENST00000518273.1_Silent_p.A62A|RIMS1_ENST00000491071.2_Silent_p.A62A|RIMS1_ENST00000522291.1_Silent_p.A62A|RIMS1_ENST00000264839.7_Silent_p.A62A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453																																																	0													128	132	130					6																	72678707		1932	4130	6062	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.186G>A	6.37:g.72678707G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.A62	ENST00000521978.1	37	c.186	CCDS47449.1	6																																																																																			RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72678707	1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72678707	G	A	72678707	2	1	153	1	0	0	0	0	0	0	0	1	13397	1045	37	1		1	RIMS1	6	72678707	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2950406	72678707	98436360	490	26464										
C6orf150	115004	genome.wustl.edu	37	chr6	74135179	74135179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactgtcttgagggttctggGtacatacgtgaaagaaggca	14	6	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:74135179G>A	ENST00000370315.3	-	5	1434	c.1340C>T	c.(1339-1341)aCc>aTc	p.T447I	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	447					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						AGGGTTCTGGGTACATACGTG	0.408																																																	0													78	72	74					6																	74135179		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1340C>T	6.37:g.74135179G>A	ENSP00000359339:p.Thr447Ile		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	pfam_Mab-21_dom	p.T447I	ENST00000370315.3	37	c.1340	CCDS4978.1	6	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298411	0.23650	.	.	ENSG00000164430	ENST00000370315;ENST00000296913	T	0.08634	3.07	5.8	4.04	0.47022	.	0.550327	0.17225	N	0.182174	T	0.03263	0.0095	M	0.68317	2.08	0.09310	N	1	B	0.31153	0.31	B	0.32465	0.146	T	0.42716	-0.9435	10	0.19147	T	0.46	-2.9136	7.2786	0.26297	0.3074:0.0:0.6926:0.0	.	447	Q8N884	M21D1_HUMAN	I	447;430	ENSP00000359339:T447I	ENSP00000296913:T430I	T	-	2	0	MB21D1	74191900	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.606000	0.24194	0.811000	0.34303	-0.157000	0.13467	ACC	MB21D1	-	pfam_Mab-21_dom		0.408	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	G	NM_138441		74135179	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	missense	SNP	0.018	A	A	74135179	G	A	74135179	3	1	153	1	0	0	0	0	1	0	0	0	2342	1261	44	4	232	4	C6orf150	6	74135179	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1456472	74135179	96979888	491	26465										
C6orf150	115004	genome.wustl.edu	37	chr6	74161536	74161536	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggagcagcgcgcgcccctCtggcggcaagaaccagccct	14	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:74161536C>T	ENST00000370315.3	-	1	463	c.369G>A	c.(367-369)caG>caA	p.Q123Q	MB21D1_ENST00000370318.1_Silent_p.Q123Q	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	123					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GCGCGCCCCTCTGGCGGCAAG	0.741																																																	0													2	3	3					6																	74161536		1658	3422	5080	SO:0001819	synonymous_variant	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.369G>A	6.37:g.74161536C>T			L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	pfam_Mab-21_dom	p.Q123	ENST00000370315.3	37	c.369	CCDS4978.1	6																																																																																			MB21D1	-	NULL		0.741	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	C	NM_138441		74161536	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	silent	SNP	0.000	T	T	74161536	C	T	74161536	2	4	153	1	0	0	0	0	0	0	0	1	2342	912	32	1		1	C6orf150	6	74161536	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	26357	74161536	96953531	492	26466										
CD109	135228	genome.wustl.edu	37	chr6	74519827	74519827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcttacaatttcagacttCtgagggaatcccaattatga	6	9	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:74519827C>T	ENST00000287097.5	+	27	3588	c.3476C>T	c.(3475-3477)tCt>tTt	p.S1159F	CD109_ENST00000437994.2_Missense_Mutation_p.S1159F|CD109_ENST00000422508.2_Missense_Mutation_p.S1082F			Q6YHK3	CD109_HUMAN	CD109 molecule	1159					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCAGACTTCTGAGGGAATC	0.448																																																	0													70	67	68					6																	74519827		2203	4299	6502	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3476C>T	6.37:g.74519827C>T	ENSP00000287097:p.Ser1159Phe		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S1159F	ENST00000287097.5	37	c.3476	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435616	0.12104	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.38401	1.14;1.14;1.14	5.3	3.51	0.40186	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.029350	0.07689	N	0.938369	T	0.15046	0.0363	L	0.43598	1.365	0.09310	N	1	B;B;B	0.32101	0.06;0.356;0.048	B;B;B	0.33339	0.019;0.162;0.1	T	0.38001	-0.9681	10	0.66056	D	0.02	.	6.6237	0.22818	0.257:0.6035:0.0:0.1394	.	1082;1159;1159	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	F	1159;1082;1159	ENSP00000388062:S1159F;ENSP00000404475:S1082F;ENSP00000287097:S1159F	ENSP00000287097:S1159F	S	+	2	0	CD109	74576548	0.000000	0.05858	0.001000	0.08648	0.359000	0.29487	0.478000	0.22212	0.785000	0.33685	-0.182000	0.12963	TCT	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.448	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	C	NM_133493		74519827	1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74519827	C	T	74519827	3	4	153	1	0	0	0	0	1	0	0	0	2968	913	32	1	3582	1	CD109	6	74519827	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	358291	74519827	96595240	493	26467										
HTR1B	3351	genome.wustl.edu	37	chr6	78173093	78173093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagcccgcgggcggcggtgGagcgcactgagcacccggtt	19	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:78173093G>A	ENST00000369947.2	-	1	397	c.28C>T	c.(28-30)Cca>Tca	p.P10S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	10					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGCGGCGGTGGAGCGCACTGA	0.647																																																	0													56	59	58					6																	78173093		2203	4300	6503	SO:0001583	missense	3351			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.28C>T	6.37:g.78173093G>A	ENSP00000358963:p.Pro10Ser		Q4VAY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt	p.P10S	ENST00000369947.2	37	c.28	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757463	0.49468	.	.	ENSG00000135312	ENST00000369947	T	0.62105	0.05	4.78	3.91	0.45181	.	0.366993	0.18305	U	0.145285	T	0.24890	0.0604	N	0.24115	0.695	0.34617	D	0.71821	B	0.02656	0.0	B	0.04013	0.001	T	0.05257	-1.0896	9	.	.	.	.	8.727	0.34476	0.1034:0.0:0.8966:0.0	.	10	P28222	5HT1B_HUMAN	S	10	ENSP00000358963:P10S	.	P	-	1	0	HTR1B	78229812	0.596000	0.26866	0.998000	0.56505	0.172000	0.22775	1.035000	0.30216	1.236000	0.43740	0.561000	0.74099	CCA	HTR1B	-	prints_5HT1B_rcpt		0.647	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	G	NM_000863		78173093	-1	no_errors	ENST00000369947	ensembl	human	known	70_37	missense	SNP	0.999	A	A	78173093	G	A	78173093	3	1	153	1	0	0	0	0	1	0	0	0	7457	1174	41	1	1148	1	HTR1B	6	78173093	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3653266	78173093	92941974	494	26468										
IBTK	25998	genome.wustl.edu	37	chr6	82906017	82906017	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgcttcaaaaaacaaacctCaatcttatctgaatgaaatc	4	9	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:82906017C>T	ENST00000306270.7	-	22	3721	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	IBTK_ENST00000503631.1_Missense_Mutation_p.E857K|IBTK_ENST00000510291.1_Missense_Mutation_p.E1043K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1058					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAACAAACCTCAATCTTATCT	0.353																																																	0													118	118	118					6																	82906017		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3172G>A	6.37:g.82906017C>T	ENSP00000305721:p.Glu1058Lys		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.E1058K	ENST00000306270.7	37	c.3172	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868906	0.72065	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.35048	1.73;1.33;1.73	5.5	4.61	0.57282	.	0.121444	0.56097	D	0.000024	T	0.19327	0.0464	M	0.61703	1.905	0.45554	D	0.998503	P;B;B;B	0.35714	0.517;0.129;0.161;0.245	B;B;B;B	0.35770	0.062;0.159;0.116;0.21	T	0.08186	-1.0734	10	0.08837	T	0.75	-2.7634	15.8012	0.78454	0.1373:0.8627:0.0:0.0	.	857;1043;1058;1058	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	1058;857;1043	ENSP00000305721:E1058K;ENSP00000422762:E857K;ENSP00000426405:E1043K	ENSP00000305721:E1058K	E	-	1	0	IBTK	82962736	0.894000	0.30519	0.974000	0.42286	0.995000	0.86356	1.678000	0.37586	1.411000	0.46957	0.558000	0.71614	GAG	IBTK	-	NULL		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	C	NM_015525		82906017	-1	no_errors	ENST00000306270	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82906017	C	T	82906017	3	4	153	1	0	0	0	0	1	0	0	0	7496	835	29	1	921	1	IBTK	6	82906017	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4732924	82906017	88209050	495	26469										
KIAA1009	22832	genome.wustl.edu	37	chr6	84884571	84884571	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatgtggctttaatttgctCaattagggcttgcgcacccc	10	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:84884571C>G	ENST00000403245.3	-	15	2014	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E558Q	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAATTTGCTCAATTAGGGCT	0.363																																																	0													88	77	81					6																	84884571		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.1900G>C	6.37:g.84884571C>G	ENSP00000385215:p.Glu634Gln			Missense_Mutation	SNP	NULL	p.E634Q	ENST00000403245.3	37	c.1900	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798843	0.50208	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.19806	2.12;2.13	5.6	4.72	0.59763	.	0.079789	0.53938	D	0.000058	T	0.08133	0.0203	L	0.54323	1.7	0.32114	N	0.588861	B	0.26081	0.141	B	0.26202	0.067	T	0.18745	-1.0327	10	0.19590	T	0.45	-4.0611	9.5505	0.39306	0.0:0.5786:0.3452:0.0762	.	634	Q5TB80	QN1_HUMAN	Q	558;634	ENSP00000257766:E558Q;ENSP00000385215:E634Q	ENSP00000257766:E558Q	E	-	1	0	KIAA1009	84941290	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.989000	0.49393	1.486000	0.48398	0.563000	0.77884	GAG	KIAA1009	-	NULL		0.363	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84884571	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84884571	C	G	84884571	3	3	153	1	0	0	0	0	1	0	0	0	8223	835	29	1	2363	1	KIAA1009	6	84884571	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1978554	84884571	86230496	496	26470										
SFRS13B	135295	genome.wustl.edu	37	chr6	89808380	89808380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgctgtttgtactttagtttCagaattggtataccctttgg	9	6	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:89808380C>T	ENST00000452027.2	-	5	896	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	235	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACTTTAGTTTCAGAATTGGTA	0.398																																																	0													195	183	187					6																	89808380		1880	4107	5987	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.703G>A	6.37:g.89808380C>T	ENSP00000414302:p.Glu235Lys		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E235K	ENST00000452027.2	37	c.703	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675658	0.14841	.	.	ENSG00000154548	ENST00000452027	T	0.06528	3.29	5.43	5.43	0.79202	.	0.651684	0.13539	N	0.380376	T	0.01765	0.0056	L	0.38175	1.15	0.21675	N	0.999599	B	0.19583	0.037	B	0.16722	0.016	T	0.46762	-0.9168	10	0.15499	T	0.54	.	7.0412	0.25021	0.1729:0.7429:0.0:0.0842	.	235	Q8WXF0	SRS12_HUMAN	K	235	ENSP00000414302:E235K	ENSP00000414302:E235K	E	-	1	0	SRSF12	89865099	0.653000	0.27358	0.942000	0.38095	0.149000	0.21700	1.401000	0.34589	2.833000	0.97629	0.591000	0.81541	GAA	SRSF12	-	NULL		0.398	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	C	NM_080743		89808380	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	0.859	T	T	89808380	C	T	89808380	3	4	153	1	0	0	0	0	1	0	0	0	14199	835	29	1	86	1	SFRS13B	6	89808380	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4923809	89808380	81306687	497	26471										
GABRR2	2570	genome.wustl.edu	37	chr6	89974134	89974134	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgaagaagccctctcaccttCtcccgcagcttccgttcctt	6	18	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:89974134C>T	ENST00000402938.3	-	8	1216	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	GABRR2_ENST00000602399.1_Silent_p.E386E	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	361					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTCTCACCTTCTCCCGCAGCT	0.577																																																	0													66	50	55					6																	89974134		2203	4300	6503	SO:0001819	synonymous_variant	2570				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1083G>A	6.37:g.89974134C>T			A2BDE4|Q9H153	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E386	ENST00000402938.3	37	c.1158	CCDS5020.3	6																																																																																			GABRR2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.577	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	GABRR2	HGNC	protein_coding	OTTHUMT00000041482.3	C			89974134	-1	no_errors	ENST00000402938	ensembl	human	known	70_37	silent	SNP	0.006	T	T	89974134	C	T	89974134	2	4	153	1	0	0	0	0	0	0	0	1	6195	912	32	1		1	GABRR2	6	89974134	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	165754	89974134	81140933	498	26472										
MDN1	23195	genome.wustl.edu	37	chr6	90424429	90424429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtccacgattcctcatagctCgggatatatctccatgaaca	7	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:90424429C>T	ENST00000369393.3	-	46	7017	c.6902G>A	c.(6901-6903)cGa>cAa	p.R2301Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2301Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2301					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCATAGCTCGGGATATATC	0.428																																																	0													95	86	89					6																	90424429		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6902G>A	6.37:g.90424429C>T	ENSP00000358400:p.Arg2301Gln		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R2301Q	ENST00000369393.3	37	c.6902	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409914	0.83340	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39592	1.07;1.07	5.15	5.15	0.70609	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.64811	0.2632	M	0.84585	2.705	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.68872	-0.5294	10	0.54805	T	0.06	.	19.0139	0.92886	0.0:1.0:0.0:0.0	.	2301	Q9NU22	MDN1_HUMAN	Q	2301	ENSP00000358400:R2301Q;ENSP00000413970:R2301Q	ENSP00000358400:R2301Q	R	-	2	0	MDN1	90481150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.562000	0.86427	0.637000	0.83480	CGA	MDN1	-	smart_AAA+_ATPase,pirsf_Midasin		0.428	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90424429	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90424429	C	T	90424429	3	4	153	1	0	0	0	0	1	0	0	0	9438	884	31	1	10116	1	MDN1	6	90424429	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	450295	90424429	80690638	499	26473										
CASP8AP2	9994	genome.wustl.edu	37	chr6	90577846	90577846	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atggcagcaagtcaactcatGaagaacagagctctatgata	9	8	3	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:90577846G>A	ENST00000551025.1	+	0	6274									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTCAACTCATGAAGAACAGAG	0.358																																					Colon(187;1656 2025 17045 31481 39901)												0													52	51	51					6																	90577846		1855	4101	5956			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577846G>A				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90577846	1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.959	A	A	90577846	G	A	90577846	1	1	153	0	1	0	0	0	0	0	0	0	2683	1291	45	1		1	CASP8AP2	6	90577846	RNA	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	153417	90577846	80537221	500	26474										
BACH2	60468	genome.wustl.edu	37	chr6	90718551	90718551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgggggagtcaggcttctCatccacagacatgccgttca	11	12	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:90718551C>T	ENST00000257749.4	-	6	720	c.13G>A	c.(13-15)Gag>Aag	p.E5K	BACH2_ENST00000343122.3_Missense_Mutation_p.E5K|BACH2_ENST00000537989.1_Missense_Mutation_p.E5K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCAGGCTTCTCATCCACAGAC	0.483																																																	0													124	118	120					6																	90718551		2203	4300	6503	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.13G>A	6.37:g.90718551C>T	ENSP00000257749:p.Glu5Lys		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E5K	ENST00000257749.4	37	c.13	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.181107	0.94846	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.65732	0.9;0.9;0.9;-0.17;-0.17	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.86953	2.85	0.58432	D	0.999992	D	0.62365	0.991	D	0.69479	0.964	T	0.83239	-0.0059	10	0.87932	D	0	-11.969	18.7262	0.91714	0.0:1.0:0.0:0.0	.	5	Q9BYV9	BACH2_HUMAN	K	5	ENSP00000257749:E5K;ENSP00000437473:E5K;ENSP00000345642:E5K;ENSP00000384145:E5K;ENSP00000397668:E5K	ENSP00000257749:E5K	E	-	1	0	BACH2	90775272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.181000	0.77682	2.507000	0.84556	0.591000	0.81541	GAG	BACH2	-	NULL		0.483	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	C	NM_021813		90718551	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90718551	C	T	90718551	3	4	153	1	0	0	0	0	1	0	0	0	1285	835	29	1	2528	1	BACH2	6	90718551	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	140705	90718551	80396516	501	26475										
ARMC2	84071	genome.wustl.edu	37	chr6	109274451	109274451	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagaggcagaggacgtgctCatcaagctgactcgtgtgct	13	10	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:109274451C>A	ENST00000392644.4	+	13	1980	c.1812C>A	c.(1810-1812)ctC>ctA	p.L604L	ARMC2_ENST00000368972.3_Silent_p.L439L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	604										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGGACGTGCTCATCAAGCTGA	0.667																																																	0													42	43	43					6																	109274451		2203	4299	6502	SO:0001819	synonymous_variant	84071			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1812C>A	6.37:g.109274451C>A			A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.L604	ENST00000392644.4	37	c.1812	CCDS5069.2	6																																																																																			ARMC2	-	superfamily_ARM-type_fold		0.667	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	C	NM_032131		109274451	1	no_errors	ENST00000392644	ensembl	human	known	70_37	silent	SNP	0.998	A	A	109274451	C	A	109274451	2	1	153	1	0	0	0	0	0	0	0	1	952	813	29	3		3	ARMC2	6	109274451	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	18555900	109274451	61840616	502	26476										
FIG4	9896	genome.wustl.edu	37	chr6	110087939	110087939	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttctttttttaggttatttGaggaactctatgaagatcat	7	4	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:110087939G>C	ENST00000230124.3	+	15	1715	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q	FIG4_ENST00000441478.2_Missense_Mutation_p.E254Q	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	531	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TAGGTTATTTGAGGAACTCTA	0.358																																																	0													140	131	134					6																	110087939		2203	4300	6503	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1591G>C	6.37:g.110087939G>C	ENSP00000230124:p.Glu531Gln		Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.E531Q	ENST00000230124.3	37	c.1591	CCDS5078.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.881203|4.881203	0.91740|0.91740	.|.	.|.	ENSG00000112367|ENSG00000112367	ENST00000441478;ENST00000230124|ENST00000415980	T;T|.	0.52754|.	1.9;0.65|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Synaptojanin, N-terminal (1);|.	0.053145|.	0.64402|.	D|.	0.000001|.	T|.	0.56514|.	0.1990|.	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|.	0.52764|.	-0.8532|.	10|.	0.35671|.	T|.	0.21|.	-26.7577|-26.7577	19.4415|19.4415	0.94823|0.94823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254;531|.	F5H8L9;Q92562|.	.;FIG4_HUMAN|.	Q|S	254;531|3	ENSP00000399443:E254Q;ENSP00000230124:E531Q|.	ENSP00000230124:E531Q|.	E|X	+|+	1|2	0|2	FIG4|FIG4	110194632|110194632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.320000|9.320000	0.96346|0.96346	2.596000|2.596000	0.87737|0.87737	0.555000|0.555000	0.69702|0.69702	GAG|TGA	FIG4	-	pfscan_Syja_N		0.358	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110087939	1	no_errors	ENST00000230124	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110087939	G	C	110087939	3	2	153	1	0	0	0	0	1	0	0	0	5906	1291	45	1	1649	1	FIG4	6	110087939	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	813488	110087939	61027128	503	26477										
WASF1	8936	genome.wustl.edu	37	chr6	110423276	110423276	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtactggagggggaggagttGaagtcattgaagctcttaat	15	4	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:110423276G>C	ENST00000392589.1	-	10	1873	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	WASF1_ENST00000392587.2_Nonsense_Mutation_p.S346*|WASF1_ENST00000392586.1_Nonsense_Mutation_p.S346*|WASF1_ENST00000392588.1_Nonsense_Mutation_p.S346*|WASF1_ENST00000359451.2_Nonsense_Mutation_p.S346*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	346					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGAGGAGTTGAAGTCATTGA	0.567																																																	0													116	113	114					6																	110423276		2203	4300	6503	SO:0001587	stop_gained	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1037C>G	6.37:g.110423276G>C	ENSP00000376368:p.Ser346*		E1P5F2|Q5SZK7	Nonsense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S346*	ENST00000392589.1	37	c.1037	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.510449	0.98329	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	.	.	.	5.59	5.59	0.84812	.	0.687681	0.14292	N	0.328851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.638	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000352425:S346X	S	-	2	0	WASF1	110529969	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.589000	0.74080	2.646000	0.89796	0.539000	0.68188	TCA	WASF1	-	NULL		0.567	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	G	NM_003931		110423276	-1	no_errors	ENST00000359451	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	110423276	G	C	110423276	4	2	153	1	0	0	0	0	0	1	0	0	17283	1294	45	1	650	1	WASF1	6	110423276	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	335337	110423276	60691791	504	26478										
SLC22A16	85413	genome.wustl.edu	37	chr6	110759974	110759974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtgcactgcagaaaagagaGtaggccaggactgttctcct	12	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:110759974G>A	ENST00000368919.3	-	5	1326	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	SLC22A16_ENST00000330550.4_Silent_p.Y386Y|SLC22A16_ENST00000439654.1_Silent_p.Y420Y|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	420					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGAAAAGAGAGTAGGCCAGGA	0.498																																																	0													174	137	150					6																	110759974		2203	4300	6503	SO:0001819	synonymous_variant	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1260C>T	6.37:g.110759974G>A			O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y420	ENST00000368919.3	37	c.1260	CCDS5084.1	6																																																																																			SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.498	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	G	NM_033125		110759974	-1	no_errors	ENST00000368919	ensembl	human	known	70_37	silent	SNP	0.002	A	A	110759974	G	A	110759974	2	1	153	1	0	0	0	0	0	0	0	1	14477	1024	36	4		4	SLC22A16	6	110759974	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	336698	110759974	60355093	505	26479										
FYN	2534	genome.wustl.edu	37	chr6	111983016	111983016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggaagctctgcaagtactCaaaagtggggcgttcttcag	12	9	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:111983016C>T	ENST00000354650.3	-	14	2146	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	FYN_ENST00000229471.4_Missense_Mutation_p.E459K|FYN_ENST00000368682.3_Missense_Mutation_p.E511K|FYN_ENST00000368667.2_Missense_Mutation_p.E514K|FYN_ENST00000538466.1_Missense_Mutation_p.E511K|FYN_ENST00000356013.2_Missense_Mutation_p.E459K|FYN_ENST00000368678.4_Missense_Mutation_p.E511K|FYN_ENST00000229470.5_Missense_Mutation_p.E462K	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	514	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TGCAAGTACTCAAAAGTGGGG	0.572																																																	0													140	147	145					6																	111983016		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1540G>A	6.37:g.111983016C>T	ENSP00000346671:p.Glu514Lys		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E514K	ENST00000354650.3	37	c.1540	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524562	0.85600	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	N	0.13198	0.31	0.80722	D	1	P;P;D	0.89917	0.939;0.942;1.0	P;P;D	0.91635	0.567;0.532;0.999	D	0.86116	0.1565	10	0.72032	D	0.01	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	514;459;511	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	K	511;514;459;514;511;462;459;511;462	ENSP00000357671:E511K;ENSP00000346671:E514K;ENSP00000229471:E459K;ENSP00000357656:E514K;ENSP00000357667:E511K;ENSP00000229470:E462K;ENSP00000348295:E459K;ENSP00000440646:E511K	ENSP00000229470:E462K	E	-	1	0	FYN	112089709	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.797000	0.85911	2.752000	0.94435	0.557000	0.71058	GAG	FYN	-	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,pfscan_Prot_kinase_cat_dom		0.572	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	C			111983016	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111983016	C	T	111983016	3	4	153	1	0	0	0	0	1	0	0	0	6144	835	29	1	77	1	FYN	6	111983016	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1223042	111983016	59132051	506	26480										
LAMA4	3910	genome.wustl.edu	37	chr6	112462006	112462006	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacataaaacactgtgtcctCagggtccaggtccagcagag	10	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:112462006C>T	ENST00000230538.7	-	22	3329	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E971K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E971K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E971K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	978	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTGTGTCCTCAGGGTCCAGG	0.418																																																	0													89	84	86					6																	112462006		2203	4300	6503	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2932G>A	6.37:g.112462006C>T	ENSP00000230538:p.Glu978Lys		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.E978K	ENST00000230538.7	37	c.2932	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	9.260	1.042913	0.19748	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.9	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.352139	0.35096	N	0.003455	T	0.54111	0.1838	L	0.42744	1.35	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.005	T	0.54702	-0.8254	10	0.27785	T	0.31	.	10.1357	0.42706	0.0:0.8499:0.0:0.1501	.	978;971	Q16363;Q16363-2	LAMA4_HUMAN;.	K	978;971;971;971	ENSP00000230538:E978K;ENSP00000429488:E971K;ENSP00000374114:E971K;ENSP00000416470:E971K	ENSP00000230538:E978K	E	-	1	0	LAMA4	112568699	0.905000	0.30787	0.562000	0.28370	0.170000	0.22686	1.699000	0.37804	1.511000	0.48818	0.650000	0.86243	GAG	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206		112462006	-1	no_errors	ENST00000230538	ensembl	human	known	70_37	missense	SNP	0.836	T	T	112462006	C	T	112462006	3	4	153	1	0	0	0	0	1	0	0	0	8628	835	29	1	2611	1	LAMA4	6	112462006	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	478990	112462006	58653061	507	26481										
TSPYL4	23270	genome.wustl.edu	37	chr6	116575098	116575098	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtctcggtccggatctcctGaggcatggtcgggagcagcc	16	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:116575098G>C	ENST00000420283.1	-	1	163	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	25					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CGGATCTCCTGAGGCATGGTC	0.632																																																	0													23	27	26					6																	116575098		1982	4159	6141	SO:0001587	stop_gained	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.74C>G	6.37:g.116575098G>C	ENSP00000410943:p.Ser25*		B4DYQ2|O94828|Q96GW8	Nonsense_Mutation	SNP	pfam_NAP_family	p.S25*	ENST00000420283.1	37	c.74	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831943	0.91036	.	.	ENSG00000187189	ENST00000420283	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.0668	12.1678	0.54139	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000410943:S25X	S	-	2	0	TSPYL4	116681791	0.000000	0.05858	0.005000	0.12908	0.316000	0.28119	0.700000	0.25601	2.585000	0.87301	0.462000	0.41574	TCA	TSPYL4	-	NULL		0.632	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	G			116575098	-1	no_errors	ENST00000420283	ensembl	human	known	70_37	nonsense	SNP	0.005	C	C	116575098	G	C	116575098	4	2	153	1	0	0	0	0	0	1	0	0	16692	1294	45	1	1174	1	TSPYL4	6	116575098	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4113092	116575098	54539969	508	26482										
DSE	29940	genome.wustl.edu	37	chr6	116754694	116754694	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagggcagcgctggtgcactCtgcacacagaatttctctgg	12	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:116754694C>T	ENST00000331677.3	+	6	1543	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	DSE_ENST00000452085.3_Silent_p.L367L|DSE_ENST00000537543.1_Silent_p.L386L|DSE_ENST00000359564.2_Silent_p.L367L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	367					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTGGTGCACTCTGCACACAGA	0.468																																																	0													46	37	40					6																	116754694		2203	4299	6502	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1099C>T	6.37:g.116754694C>T			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.L386	ENST00000331677.3	37	c.1156	CCDS5107.1	6																																																																																			DSE	-	NULL		0.468	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116754694	1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.995	T	T	116754694	C	T	116754694	2	4	153	1	0	0	0	0	0	0	0	1	4784	912	32	1		1	DSE	6	116754694	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	179596	116754694	54360373	509	26483										
FAM162B	221303	genome.wustl.edu	37	chr6	117086414	117086414	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcgtggggactcggtgaatCtcccctgcagcgaaagcaac	13	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:117086414C>G	ENST00000368557.4	-	2	323	c.177G>C	c.(175-177)gaG>gaC	p.E59D		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	59						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						CTCGGTGAATCTCCCCTGCAG	0.642																																																	0													39	43	41					6																	117086414		2171	4281	6452	SO:0001583	missense	221303			BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.177G>C	6.37:g.117086414C>G	ENSP00000357545:p.Glu59Asp		Q8IXW8	Missense_Mutation	SNP	pfam_DUF1075	p.E59D	ENST00000368557.4	37	c.177	CCDS43497.1	6	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035379	0.19590	.	.	ENSG00000183807	ENST00000368557	T	0.32515	1.45	3.65	-0.316	0.12743	.	0.426223	0.25481	N	0.030372	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40850	-0.9541	10	0.12430	T	0.62	-1.1901	3.42	0.07389	0.0:0.4446:0.2008:0.3546	.	59	Q5T6X4	F162B_HUMAN	D	59	ENSP00000357545:E59D	ENSP00000357545:E59D	E	-	3	2	FAM162B	117193107	0.012000	0.17670	0.006000	0.13384	0.018000	0.09664	0.054000	0.14205	-0.076000	0.12775	0.561000	0.74099	GAG	FAM162B	-	pfam_DUF1075		0.642	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162B	HGNC	protein_coding	OTTHUMT00000041965.1	C	XM_927381		117086414	-1	no_errors	ENST00000368557	ensembl	human	known	70_37	missense	SNP	0.007	G	G	117086414	C	G	117086414	3	3	153	1	0	0	0	0	1	0	0	0	5490	912	32	1	323	1	FAM162B	6	117086414	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	331720	117086414	54028653	510	26484										
MAN1A1	4121	genome.wustl.edu	37	chr6	119525929	119525929	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attgaagaatctcaccttttCagcaaagatggggtttcctg	9	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:119525929C>T	ENST00000368468.3	-	7	1552	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	371					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CTCACCTTTTCAGCAAAGATG	0.443																																					Ovarian(136;8 1825 12608 33541 47587)												0													130	123	125					6																	119525929		2203	4300	6503	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1111G>A	6.37:g.119525929C>T	ENSP00000357453:p.Glu371Lys		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E371K	ENST00000368468.3	37	c.1111	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816267	0.50527	.	.	ENSG00000111885	ENST00000368468	T	0.71817	-0.6	5.37	5.37	0.77165	.	0.156838	0.56097	D	0.000026	T	0.50086	0.1595	L	0.33710	1.025	0.80722	D	1	B	0.11235	0.004	B	0.20384	0.029	T	0.46414	-0.9193	10	0.25751	T	0.34	-20.1876	19.1079	0.93303	0.0:1.0:0.0:0.0	.	371	P33908	MA1A1_HUMAN	K	371	ENSP00000357453:E371K	ENSP00000357453:E371K	E	-	1	0	MAN1A1	119567628	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.918000	0.63376	2.502000	0.84385	0.591000	0.81541	GAA	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.443	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	C	NM_005907		119525929	-1	no_errors	ENST00000368468	ensembl	human	known	70_37	missense	SNP	0.998	T	T	119525929	C	T	119525929	3	4	153	1	0	0	0	0	1	0	0	0	9233	835	29	1	878	1	MAN1A1	6	119525929	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2439515	119525929	51589138	511	26485										
SMPDL3A	10924	genome.wustl.edu	37	chr6	123130433	123130433	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aattacttctttgtgagttaTgacagcagtgtaacatgtga	9	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:123130433T>C	ENST00000368440.4	+	8	1419	c.1242T>C	c.(1240-1242)taT>taC	p.Y414Y	SMPDL3A_ENST00000539041.1_Silent_p.Y283Y	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	414					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTGTGAGTTATGACAGCAGTG	0.328																																																	0													73	73	73					6																	123130433		2203	4300	6503	SO:0001819	synonymous_variant	10924			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1242T>C	6.37:g.123130433T>C			B7Z729|Q8WV13	Silent	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.Y414	ENST00000368440.4	37	c.1242	CCDS5128.1	6																																																																																			SMPDL3A	-	pirsf_ASM-like_Pdiesterase_prd		0.328	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	T	NM_006714		123130433	1	no_errors	ENST00000368440	ensembl	human	known	70_37	silent	SNP	1.000	C	C	123130433	T	C	123130433	2	2	153	1	0	0	0	0	0	0	0	1	14838	1471	51	5		5	SMPDL3A	6	123130433	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	3604504	123130433	47984634	512	26486										
MED23	9439	genome.wustl.edu	37	chr6	131923425	131923425	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agttcttcagattctgctgaGagcactgttttgggatcact	10	8	4	2	rs538314298	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:131923425G>A	ENST00000368068.3	-	17	2207	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	MED23_ENST00000368060.3_Silent_p.L676L|MED23_ENST00000540546.1_Silent_p.L682L|MED23_ENST00000368058.1_Silent_p.L682L|MED23_ENST00000354577.4_Silent_p.L682L|MED23_ENST00000403834.3_Silent_p.L682L|MED23_ENST00000545957.1_Silent_p.L317L|MED23_ENST00000368053.4_Silent_p.L682L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	676					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATTCTGCTGAGAGCACTGTTT	0.458													G|||	3	0.000599042	0	0	5008	,	,		15645	0		0	False		,,,				2504	0.0031																0													165	144	151					6																	131923425		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2028C>T	6.37:g.131923425G>A			B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.L682	ENST00000368068.3	37	c.2046	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23		0.458	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131923425	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	silent	SNP	0.989	A	A	131923425	G	A	131923425	2	1	153	1	0	0	0	0	0	0	0	1	9464	929	33	1		1	MED23	6	131923425	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8792992	131923425	39191642	513	26487										
ENPP3	5169	genome.wustl.edu	37	chr6	132061484	132061484	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctggatgtcctaccctttatCatccctcaccgacctaccaa	4	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:132061484C>T	ENST00000414305.1	+	25	2749	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.I807I			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	807	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TACCCTTTATCATCCCTCACC	0.517																																																	0													131	115	121					6																	132061484		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2421C>T	6.37:g.132061484C>T			Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.I807	ENST00000414305.1	37	c.2421	CCDS5148.1	6																																																																																			ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.517	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	C			132061484	1	no_errors	ENST00000357639	ensembl	human	known	70_37	silent	SNP	0.994	T	T	132061484	C	T	132061484	2	4	153	1	0	0	0	0	0	0	0	1	5143	816	29	1		1	ENPP3	6	132061484	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	138059	132061484	39053583	514	26488										
C6orf192	116843	genome.wustl.edu	37	chr6	133111403	133111403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attgtattgctggctcccttCttttcagcctttaagtaata	6	9	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:133111403C>G	ENST00000275227.4	-	3	288	c.192G>C	c.(190-192)aaG>aaC	p.K64N	SLC18B1_ENST00000538764.1_5'UTR|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000367918.1_Missense_Mutation_p.K64N	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	64					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											TGGCTCCCTTCTTTTCAGCCT	0.333																																																	0													62	59	60					6																	133111403		2195	4291	6486	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.192G>C	6.37:g.133111403C>G	ENSP00000275227:p.Lys64Asn		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K64N	ENST00000275227.4	37	c.192	CCDS5163.1	6	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250827	0.39797	.	.	ENSG00000146409	ENST00000367919;ENST00000275227;ENST00000367918	T;T	0.58506	0.4;0.33	4.97	1.6	0.23607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.089377	0.85682	N	0.000000	T	0.33818	0.0876	M	0.64404	1.975	0.80722	D	1	B	0.21452	0.056	B	0.30646	0.118	T	0.14587	-1.0467	10	0.28530	T	0.3	-8.9914	6.6056	0.22724	0.0:0.6093:0.1486:0.2421	.	64	Q6NT16	CF192_HUMAN	N	64	ENSP00000275227:K64N;ENSP00000356895:K64N	ENSP00000275227:K64N	K	-	3	2	C6orf192	133153096	0.991000	0.36638	1.000000	0.80357	0.891000	0.51852	0.254000	0.18314	0.581000	0.29539	-0.137000	0.14449	AAG	SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.333	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	C	NM_052831		133111403	-1	no_errors	ENST00000275227	ensembl	human	known	70_37	missense	SNP	1.000	G	G	133111403	C	G	133111403	3	3	153	1	0	0	0	0	1	0	0	0	2354	912	32	1	1226	1	C6orf192	6	133111403	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1049919	133111403	38003664	515	26489										
ALDH8A1	64577	genome.wustl.edu	37	chr6	135250315	135250315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aattcactatagatgctcttCtggacaaagatcctgctggt	8	9	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:135250315C>G	ENST00000265605.2	-	6	956	c.888G>C	c.(886-888)caG>caC	p.Q296H	ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.Q246H	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	296					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGATGCTCTTCTGGACAAAGA	0.468																																																	0													71	68	69					6																	135250315		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.888G>C	6.37:g.135250315C>G	ENSP00000265605:p.Gln296His		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.Q296H	ENST00000265605.2	37	c.888	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568712	0.45798	.	.	ENSG00000118514	ENST00000265605;ENST00000367847	T;T	0.75589	-0.95;-0.95	5.63	4.57	0.56435	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.048683	0.85682	D	0.000000	T	0.42899	0.1223	N	0.04132	-0.27	0.58432	D	0.999992	B;B	0.14805	0.011;0.011	B;B	0.33121	0.158;0.158	T	0.43556	-0.9384	10	0.37606	T	0.19	.	11.8964	0.52659	0.0:0.8507:0.0:0.1493	.	246;296	B7Z521;Q9H2A2	.;AL8A1_HUMAN	H	296;246	ENSP00000265605:Q296H;ENSP00000356821:Q246H	ENSP00000265605:Q296H	Q	-	3	2	ALDH8A1	135292008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.491000	0.45303	2.668000	0.90789	0.563000	0.77884	CAG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.468	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	C			135250315	-1	no_errors	ENST00000265605	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135250315	C	G	135250315	3	3	153	1	0	0	0	0	1	0	0	0	505	912	32	1	583	1	ALDH8A1	6	135250315	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2138912	135250315	35864752	516	26490										
GPR126	57211	genome.wustl.edu	37	chr6	142703096	142703096	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgttgatcaaggttcctacCtgatcccgctcccagcagca	9	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:142703096C>G	ENST00000230173.6	+	5	1554	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367609.3_Missense_Mutation_p.L360V|GPR126_ENST00000296932.8_Missense_Mutation_p.L360V|GPR126_ENST00000367608.2_Missense_Mutation_p.L360V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	360					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGTTCCTACCTGATCCCGCT	0.463																																																	0													41	42	42					6																	142703096		1890	4114	6004	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1078C>G	6.37:g.142703096C>G	ENSP00000230173:p.Leu360Val		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L360V	ENST00000230173.6	37	c.1078	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380943	0.42207	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.84	3.11	0.35812	.	0.000000	0.49916	D	0.000134	T	0.29556	0.0737	L	0.58101	1.795	0.32645	N	0.520217	P;P;P;B	0.36010	0.532;0.532;0.532;0.397	B;B;B;B	0.36534	0.227;0.227;0.227;0.113	T	0.08827	-1.0703	10	0.37606	T	0.19	.	9.1272	0.36824	0.0:0.7769:0.0:0.2231	.	360;360;360;360	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	V	360	ENSP00000230173:L360V;ENSP00000356580:L360V;ENSP00000296932:L360V;ENSP00000356581:L360V	ENSP00000230173:L360V	L	+	1	2	GPR126	142744789	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	0.826000	0.27407	0.817000	0.34445	0.650000	0.86243	CTG	GPR126	-	NULL		0.463	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	C			142703096	1	no_errors	ENST00000367609	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142703096	C	G	142703096	3	3	153	1	0	0	0	0	1	0	0	0	6659	680	24	4	1096	4	GPR126	6	142703096	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7452781	142703096	28411971	517	26491										
HIVEP2	3097	genome.wustl.edu	37	chr6	143074731	143074731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgcaaagcgtgaggacctCgcttctcatgctgcttagaa	10	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:143074731C>T	ENST00000367604.1	-	9	7493	c.6854G>A	c.(6853-6855)cGa>cAa	p.R2285Q	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2285Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2285Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGAGGACCTCGCTTCTCATG	0.547																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													77	80	79					6																	143074731		2005	4180	6185	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6854G>A	6.37:g.143074731C>T	ENSP00000356576:p.Arg2285Gln		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2285Q	ENST00000367604.1	37	c.6854	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660859	0.00772	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02345	4.33;4.33;4.33	5.63	2.68	0.31781	.	0.819596	0.11689	N	0.539103	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46317	-0.9200	10	0.10636	T	0.68	-0.4461	2.99	0.05980	0.1414:0.5472:0.1586:0.1528	.	2285	P31629	ZEP2_HUMAN	Q	2285	ENSP00000356576:R2285Q;ENSP00000356575:R2285Q;ENSP00000012134:R2285Q	ENSP00000012134:R2285Q	R	-	2	0	HIVEP2	143116424	0.013000	0.17824	0.017000	0.16124	0.105000	0.19272	0.833000	0.27504	0.697000	0.31718	0.655000	0.94253	CGA	HIVEP2	-	NULL		0.547	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143074731	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	0.040	T	T	143074731	C	T	143074731	3	4	153	1	0	0	0	0	1	0	0	0	7207	884	31	1	490	1	HIVEP2	6	143074731	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	371635	143074731	28040336	518	26492										
UTRN	7402	genome.wustl.edu	37	chr6	145069393	145069393	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taatcacagaattaactcctGaggagagagcccaaaagatt	8	8	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:145069393G>A	ENST00000367545.3	+	54	7951	c.7951G>A	c.(7951-7953)Gag>Aag	p.E2651K	UTRN_ENST00000367526.4_Missense_Mutation_p.E206K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2651					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)			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)		ATTAACTCCTGAGGAGAGAGC	0.353																																																	0													35	35	35					6																	145069393		2203	4300	6503	SO:0001583	missense	7402			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.7951G>A	6.37:g.145069393G>A	ENSP00000356515:p.Glu2651Lys		Q5SYY1|Q5SZ57|Q9UJ40	Missense_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.E2651K	ENST00000367545.3	37	c.7951	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941433	0.92526	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.63096	-0.02;3.39	5.62	5.62	0.85841	.	0.000000	0.49916	D	0.000124	T	0.59810	0.2221	L	0.58101	1.795	0.54753	D	0.999987	P	0.41624	0.757	P	0.45856	0.495	T	0.61806	-0.6987	10	0.48119	T	0.1	.	19.6637	0.95885	0.0:0.0:1.0:0.0	.	2651	P46939	UTRO_HUMAN	K	2651;206	ENSP00000356515:E2651K;ENSP00000356496:E206K	ENSP00000356496:E206K	E	+	1	0	UTRN	145111086	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	9.476000	0.97823	2.646000	0.89796	0.467000	0.42956	GAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	G			145069393	1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145069393	G	A	145069393	3	1	153	1	0	0	0	0	1	0	0	0	17134	1291	45	1	8165	1	UTRN	6	145069393	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1994662	145069393	26045674	519	26493										
KATNA1	11104	genome.wustl.edu	37	chr6	149918311	149918311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagacttattcgtaatagctCctccctgccttttgctaatg	6	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:149918311C>T	ENST00000335647.5	-	9	1209	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	KATNA1_ENST00000367411.2_Missense_Mutation_p.E389K|SNORA2_ENST00000365473.1_RNA|KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Intron					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CGTAATAGCTCCTCCCTGCCT	0.378																																																	0													135	122	126					6																	149918311		2202	4300	6502	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1165G>A	6.37:g.149918311C>T	ENSP00000335106:p.Glu389Lys			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.E389K	ENST00000335647.5	37	c.1165	CCDS5217.1	6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288951	0.80914	.	.	ENSG00000186625	ENST00000335647;ENST00000367411	D;D	0.95035	-3.59;-3.59	5.54	5.54	0.83059	.	0.046819	0.85682	D	0.000000	D	0.91640	0.7358	L	0.43598	1.365	0.80722	D	1	P	0.38420	0.63	B	0.43867	0.434	D	0.90536	0.4499	9	.	.	.	.	19.4802	0.95007	0.0:1.0:0.0:0.0	.	389	O75449	KTNA1_HUMAN	K	389	ENSP00000335106:E389K;ENSP00000356381:E389K	.	E	-	1	0	KATNA1	149960004	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.818000	0.86416	2.598000	0.87819	0.563000	0.77884	GAG	KATNA1	-	NULL		0.378	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNA1	HGNC	protein_coding	OTTHUMT00000042641.2	C	NM_007044		149918311	-1	no_errors	ENST00000335647	ensembl	human	known	70_37	missense	SNP	1.000	T	T	149918311	C	T	149918311	3	4	153	1	0	0	0	0	1	0	0	0	8004	864	30	1	318	1	KATNA1	6	149918311	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4848918	149918311	21196756	520	26494										
KATNA1	11104	genome.wustl.edu	37	chr6	149919411	149919411	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccttctgcttgcttcatgttCttcagaagtccctcggcgac	8	14	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:149919411C>G	ENST00000335647.5	-	7	1008	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	KATNA1_ENST00000367411.2_Missense_Mutation_p.E322Q|KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.E246Q					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GCTTCATGTTCTTCAGAAGTC	0.458																																																	0													131	124	126					6																	149919411		2203	4300	6503	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.964G>C	6.37:g.149919411C>G	ENSP00000335106:p.Glu322Gln			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.E322Q	ENST00000335647.5	37	c.964	CCDS5217.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.416466	0.96092	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	D;D;D	0.95069	-3.6;-3.23;-3.6	5.59	5.59	0.84812	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.971;0.998	D	0.95108	0.8236	9	.	.	.	.	19.9394	0.97153	0.0:1.0:0.0:0.0	.	322;246;322	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	Q	322;246;322	ENSP00000335106:E322Q;ENSP00000335180:E246Q;ENSP00000356381:E322Q	.	E	-	1	0	KATNA1	149961104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.791000	0.96007	0.591000	0.81541	GAA	KATNA1	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.458	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNA1	HGNC	protein_coding	OTTHUMT00000042641.2	C	NM_007044		149919411	-1	no_errors	ENST00000335647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149919411	C	G	149919411	3	3	153	1	0	0	0	0	1	0	0	0	8004	922	32	1	527	1	KATNA1	6	149919411	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1100	149919411	21195656	521	26495										
LATS1	9113	genome.wustl.edu	37	chr6	150005474	150005474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggggagtctggcctcttgGaggtggtggaggagtaacac	19	6	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150005474G>C	ENST00000543571.1	-	4	1298	c.751C>G	c.(751-753)Cca>Gca	p.P251A	LATS1_ENST00000253339.5_Missense_Mutation_p.P251A|LATS1_ENST00000392273.3_Missense_Mutation_p.P251A|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGGCCTCTTGGAGGTGGTGGA	0.512																																																	0													161	150	154					6																	150005474		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.751C>G	6.37:g.150005474G>C	ENSP00000437550:p.Pro251Ala			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P251A	ENST00000543571.1	37	c.751	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153798	0.57259	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.94280	0.69;0.69;3.27;-3.39	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000086	D	0.93220	0.7840	L	0.47716	1.5	0.48395	D	0.999649	D;D;P	0.63880	0.97;0.993;0.888	P;P;B	0.58520	0.681;0.84;0.355	D	0.92343	0.5883	9	.	.	.	.	18.1544	0.89686	0.0:0.0:1.0:0.0	.	103;251;251	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	A	251;251;251;197	ENSP00000437550:P251A;ENSP00000253339:P251A;ENSP00000444678:P251A;ENSP00000441265:P197A	.	P	-	1	0	LATS1	150047167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.282000	0.76494	0.655000	0.94253	CCA	LATS1	-	NULL		0.512	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005474	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150005474	G	C	150005474	3	2	153	1	0	0	0	0	1	0	0	0	8666	1174	41	1	2661	1	LATS1	6	150005474	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	86063	150005474	21109593	522	26496										
LATS1	9113	genome.wustl.edu	37	chr6	150005552	150005552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccgttgctagggtgagcttGaacaaatgctgatataccag	11	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150005552G>C	ENST00000543571.1	-	4	1220	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	LATS1_ENST00000253339.5_Missense_Mutation_p.Q225E|LATS1_ENST00000392273.3_Missense_Mutation_p.Q225E|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGGTGAGCTTGAACAAATGCT	0.532																																																	0													111	98	102					6																	150005552		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.673C>G	6.37:g.150005552G>C	ENSP00000437550:p.Gln225Glu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.Q225E	ENST00000543571.1	37	c.673	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387697	0.61956	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.90504	0.66;0.66;3.25;-2.68	4.9	4.9	0.64082	.	0.130827	0.34507	N	0.003914	D	0.92192	0.7524	L	0.55481	1.735	0.47698	D	0.999491	B;B;P	0.49447	0.025;0.252;0.924	B;B;P	0.62298	0.031;0.092;0.9	D	0.91300	0.5066	9	.	.	.	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	77;225;225	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	225;225;225;171	ENSP00000437550:Q225E;ENSP00000253339:Q225E;ENSP00000444678:Q225E;ENSP00000441265:Q171E	.	Q	-	1	0	LATS1	150047245	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.241000	0.95402	2.265000	0.75225	0.557000	0.71058	CAA	LATS1	-	NULL		0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005552	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150005552	G	C	150005552	3	2	153	1	0	0	0	0	1	0	0	0	8666	1299	45	1	2739	1	LATS1	6	150005552	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	78	150005552	21109515	523	26497										
IYD	389434	genome.wustl.edu	37	chr6	150690249	150690249	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaatgccgacagaagcatgGagaaaaagaagggggagcct	14	6	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150690249G>C	ENST00000344419.3	+	1	222	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	IYD_ENST00000392255.3_Missense_Mutation_p.E28Q|IYD_ENST00000500320.3_Missense_Mutation_p.E28Q|IYD_ENST00000229447.5_Missense_Mutation_p.E28Q|IYD_ENST00000392256.2_Missense_Mutation_p.E28Q|IYD_ENST00000425615.3_5'Flank	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	28					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CAGAAGCATGGAGAAAAAGAA	0.493																																																	0													125	140	135					6																	150690249		2203	4300	6503	SO:0001583	missense	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.82G>C	6.37:g.150690249G>C	ENSP00000343763:p.Glu28Gln		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.E28Q	ENST00000344419.3	37	c.82	CCDS5227.1	6	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287508	0.05605	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320	D;T;D;D;D	0.87179	-2.22;-0.55;-2.15;-2.18;-2.2	4.71	-3.53	0.04667	.	0.782790	0.12122	N	0.497615	T	0.64594	0.2612	M	0.65975	2.015	0.09310	N	0.999991	P;P;B	0.37276	0.454;0.589;0.01	B;B;B	0.30943	0.107;0.122;0.006	T	0.58211	-0.7676	10	0.19590	T	0.45	-16.1508	7.0644	0.25143	0.2887:0.511:0.2002:0.0	.	28;28;28	C9JFW2;Q6PHW0-3;Q6PHW0	.;.;IYD1_HUMAN	Q	28	ENSP00000229447:E28Q;ENSP00000343763:E28Q;ENSP00000376085:E28Q;ENSP00000376084:E28Q;ENSP00000441276:E28Q	ENSP00000229447:E28Q	E	+	1	0	IYD	150731942	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.477000	0.06583	-0.596000	0.05821	-0.300000	0.09419	GAG	IYD	-	NULL		0.493	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	G	NM_203395		150690249	1	no_errors	ENST00000229447	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150690249	G	C	150690249	3	2	153	1	0	0	0	0	1	0	0	0	7952	1175	41	1	84	1	IYD	6	150690249	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	684697	150690249	20424818	524	26498										
SYNE1	23345	genome.wustl.edu	37	chr6	152570389	152570389	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtgatgtaaacagcactttCagatcattctaaggaggaaa	9	6	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:152570389C>G	ENST00000367255.5	-	105	20080	c.19479G>C	c.(19477-19479)ctG>ctC	p.L6493L	SYNE1_ENST00000423061.1_Silent_p.L6422L|SYNE1_ENST00000448038.1_Silent_p.L6422L|SYNE1_ENST00000341594.5_Silent_p.L6105L|SYNE1_ENST00000356820.4_Silent_p.L1017L|SYNE1_ENST00000265368.4_Silent_p.L6493L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6493					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGCACTTTCAGATCATTCT	0.348										HNSCC(10;0.0054)																																							0													95	92	93					6																	152570389		2202	4300	6502	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19479G>C	6.37:g.152570389C>G			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6493	ENST00000367255.5	37	c.19479	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152570389	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	G	G	152570389	C	G	152570389	2	3	153	1	0	0	0	0	0	0	0	1	15475	813	29	1		1	SYNE1	6	152570389	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1880140	152570389	18544678	525	26499										
SYNE1	23345	genome.wustl.edu	37	chr6	152765605	152765605	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcagtatccaagatcttctCagcttgttcctggacttctt	6	11	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:152765605C>A	ENST00000367255.5	-	30	4379	c.3778G>T	c.(3778-3780)Gag>Tag	p.E1260*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1267*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1267*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.E1260*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1326*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.E1250*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.E1260*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1260*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1260					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGATCTTCTCAGCTTGTTCC	0.373										HNSCC(10;0.0054)																																							0													126	124	125					6																	152765605		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3778G>T	6.37:g.152765605C>A	ENSP00000356224:p.Glu1260*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1260*	ENST00000367255.5	37	c.3778	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	46	12.224394	0.99648	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	X	1260;1267;1260;1267;1326;1260;1250;1260	.	ENSP00000265368:E1260X	E	-	1	0	SYNE1	152807298	0.998000	0.40836	0.974000	0.42286	0.994000	0.84299	3.478000	0.53158	2.826000	0.97356	0.655000	0.94253	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152765605	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	152765605	C	A	152765605	4	1	153	1	0	0	0	0	0	1	0	0	15475	835	29	3	23156	3	SYNE1	6	152765605	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	195216	152765605	18349462	526	26500										
SYNE1	23345	genome.wustl.edu	37	chr6	152831344	152831344	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttacttgccagctgtgtactGaacccactttaataaagcct	6	11	0	1	rs371665371		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:152831344G>T	ENST00000367255.5	-	8	1166	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q196K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q196K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q189K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q189K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q196K|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q189K|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q189K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q189K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	189	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGTGTACTGAACCCACTTT	0.398										HNSCC(10;0.0054)																																							0													213	200	204					6																	152831344		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.565C>A	6.37:g.152831344G>T	ENSP00000356224:p.Gln189Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q189K	ENST00000367255.5	37	c.565	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210883	0.79240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.66	5.66	0.87406	Calponin homology domain (5);	0.000000	0.56097	D	0.000022	D	0.94417	0.8204	L	0.39085	1.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.996	D	0.91602	0.5296	10	0.16420	T	0.52	.	19.7497	0.96263	0.0:0.0:1.0:0.0	.	189;189;189;189;196	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	189;196;189;196;189;189;196;189;189;189	ENSP00000356224:Q189K;ENSP00000396024:Q196K;ENSP00000265368:Q189K;ENSP00000390975:Q196K;ENSP00000341887:Q189K;ENSP00000356222:Q189K;ENSP00000356217:Q196K;ENSP00000414510:Q189K;ENSP00000446021:Q189K;ENSP00000441264:Q189K	ENSP00000265368:Q189K	Q	-	1	0	SYNE1	152873037	1.000000	0.71417	0.996000	0.52242	0.838000	0.47535	9.869000	0.99810	2.682000	0.91365	0.637000	0.83480	CAG	SYNE1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152831344	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152831344	G	T	152831344	3	4	153	1	0	0	0	0	1	0	0	0	15475	1299	45	3	26457	3	SYNE1	6	152831344	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	65739	152831344	18283723	527	26501										
TIAM2	26230	genome.wustl.edu	37	chr6	155575620	155575620	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgagggagaacttcaggcgtCacataaagtgtgaattacca	11	7	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:155575620C>T	ENST00000461783.3	+	28	5654	c.4381C>T	c.(4381-4383)Cac>Tac	p.H1461Y	TIAM2_ENST00000529824.2_Missense_Mutation_p.H1490Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1490Y|TIAM2_ENST00000456877.2_Missense_Mutation_p.H773Y|TIAM2_ENST00000528391.2_Missense_Mutation_p.H797Y|TIAM2_ENST00000275246.7_Missense_Mutation_p.H386Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1461Y|TIAM2_ENST00000367174.2_Missense_Mutation_p.H837Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1485Y|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1461	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTCAGGCGTCACATAAAGTG	0.458																																																	0													155	135	142					6																	155575620		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4381C>T	6.37:g.155575620C>T	ENSP00000437188:p.His1461Tyr		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.H1490Y	ENST00000461783.3	37	c.4468	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301977	0.81136	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08008	3.61;3.55;3.61;3.44;3.6;3.55;3.43;3.43;3.14	5.66	5.66	0.87406	.	0.048023	0.85682	D	0.000000	T	0.08492	0.0211	L	0.36672	1.1	0.41250	D	0.9867	P;D;D;P	0.53745	0.891;0.962;0.962;0.936	B;P;P;B	0.50352	0.405;0.638;0.638;0.435	T	0.06144	-1.0843	10	0.54805	T	0.06	.	17.934	0.89007	0.0:1.0:0.0:0.0	.	797;1490;1485;1461	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	Y	1461;1707;1490;1461;837;1485;1490;773;797;386	ENSP00000437188:H1461Y;ENSP00000407746:H1490Y;ENSP00000327315:H1461Y;ENSP00000356142:H837Y;ENSP00000353528:H1485Y;ENSP00000433348:H1490Y;ENSP00000407183:H773Y;ENSP00000435335:H797Y;ENSP00000275246:H386Y	ENSP00000275246:H386Y	H	+	1	0	TIAM2	155617312	0.998000	0.40836	0.990000	0.47175	0.995000	0.86356	3.613000	0.54152	2.673000	0.90976	0.650000	0.86243	CAC	TIAM2	-	NULL		0.458	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	C	NM_012454		155575620	1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	0.999	T	T	155575620	C	T	155575620	3	4	153	1	0	0	0	0	1	0	0	0	15921	826	29	1	4471	1	TIAM2	6	155575620	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2744276	155575620	15539447	528	26502										
ARID1B	57492	genome.wustl.edu	37	chr6	157405973	157405973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggggggcccatctccctctCctgttggctctcctgtagga	12	15	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:157405973C>T	ENST00000350026.5	+	5	2177	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	ARID1B_ENST00000275248.4_Missense_Mutation_p.P668S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P726S|ARID1B_ENST00000346085.5_Missense_Mutation_p.P739S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	726	Ser-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCTCCCTCTCCTGTTGGCTC	0.547																																																	0													74	72	73					6																	157405973		2203	4300	6503	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2176C>T	6.37:g.157405973C>T	ENSP00000055163:p.Pro726Ser		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P726S	ENST00000350026.5	37	c.2176	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478943	0.84747	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.998	T	0.23619	-1.0183	10	0.72032	D	0.01	.	19.7363	0.96205	0.0:1.0:0.0:0.0	.	110;726;739;668	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	S	739;726;726;668;147;110;225;148	ENSP00000344546:P739S;ENSP00000055163:P726S;ENSP00000356116:P726S;ENSP00000275248:P668S;ENSP00000412835:P225S;ENSP00000313006:P148S	ENSP00000275248:P668S	P	+	1	0	ARID1B	157447665	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	7.487000	0.81328	2.652000	0.90054	0.650000	0.86243	CCT	ARID1B	-	NULL		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	C	NM_020732		157405973	1	no_errors	ENST00000367148	ensembl	human	known	70_37	missense	SNP	1.000	T	T	157405973	C	T	157405973	3	4	153	1	0	0	0	0	1	0	0	0	914	855	30	1	2237	1	ARID1B	6	157405973	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1830353	157405973	13709094	529	26503										
QKI	9444	genome.wustl.edu	37	chr6	163984548	163984548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accagctgccctgcgtactcCtacgccagctggccctacca	8	19	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:163984548C>T	ENST00000361752.3	+	6	1282	c.731C>T	c.(730-732)cCt>cTt	p.P244L	QKI_ENST00000453779.2_Missense_Mutation_p.P244L|QKI_ENST00000424802.3_Missense_Mutation_p.P236L|QKI_ENST00000392127.2_Missense_Mutation_p.P244L|QKI_ENST00000361195.2_Missense_Mutation_p.P236L|QKI_ENST00000275262.7_Missense_Mutation_p.P244L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	244					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTGCGTACTCCTACGCCAGCT	0.562																																																	0													67	62	64					6																	163984548		2203	4300	6503	SO:0001583	missense	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.731C>T	6.37:g.163984548C>T	ENSP00000355094:p.Pro244Leu		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.P244L	ENST00000361752.3	37	c.731	CCDS5285.1	6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739368	0.89573	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.981;0.985;1.0;1.0;0.99;1.0	P;P;D;D;P;D	0.91635	0.858;0.786;0.999;0.999;0.859;0.999	T	0.76222	-0.3038	9	0.72032	D	0.01	-1.6653	20.5407	0.99260	0.0:1.0:0.0:0.0	.	236;244;236;244;244;244	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	L	244;244;244;244;236;236	.	ENSP00000275262:P244L	P	+	2	0	QKI	163904538	1.000000	0.71417	0.475000	0.27278	0.987000	0.75469	5.773000	0.68898	2.865000	0.98341	0.655000	0.94253	CCT	QKI	-	NULL		0.562	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2	C	NM_006775		163984548	1	no_errors	ENST00000361752	ensembl	human	known	70_37	missense	SNP	0.963	T	T	163984548	C	T	163984548	3	4	153	1	0	0	0	0	1	0	0	0	12903	681	24	4	753	4	QKI	6	163984548	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6578575	163984548	7130519	530	26504										
QKI	9444	genome.wustl.edu	37	chr6	163984559	163984559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcgtactcctacgccagctGgccctaccataatgcctttg	8	15	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:163984559G>T	ENST00000361752.3	+	6	1293	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	QKI_ENST00000453779.2_Missense_Mutation_p.G248C|QKI_ENST00000424802.3_Missense_Mutation_p.G240C|QKI_ENST00000392127.2_Missense_Mutation_p.G248C|QKI_ENST00000361195.2_Missense_Mutation_p.G240C|QKI_ENST00000275262.7_Missense_Mutation_p.G248C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	248					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TACGCCAGCTGGCCCTACCAT	0.572																																																	0													73	67	69					6																	163984559		2203	4300	6503	SO:0001583	missense	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.742G>T	6.37:g.163984559G>T	ENSP00000355094:p.Gly248Cys		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.G248C	ENST00000361752.3	37	c.742	CCDS5285.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.324564|4.324564	0.81580|0.81580	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802|ENST00000537883;ENST00000544361	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.044831|.	0.85682|.	D|.	0.000000|.	T|T	0.67906|0.67906	0.2943|0.2943	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;D;P;D;P|.	0.55385|.	0.938;0.832;0.971;0.82;0.963;0.911|.	P;P;P;P;P;P|.	0.53035|.	0.716;0.524;0.599;0.518;0.518;0.518|.	T|T	0.61959|0.61959	-0.6955|-0.6955	9|5	0.51188|.	T|.	0.08|.	-1.5905|-1.5905	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	240;248;240;248;248;248|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	C|L	248;248;248;248;240;240|144;81	.|.	ENSP00000275262:G248C|.	G|W	+|+	1|2	0|0	QKI|QKI	163904549|163904549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.465000|9.465000	0.97660|0.97660	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGC|TGG	QKI	-	NULL		0.572	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2	G	NM_006775		163984559	1	no_errors	ENST00000361752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	163984559	G	T	163984559	3	4	153	1	0	0	0	0	1	0	0	0	12903	1348	47	4	764	4	QKI	6	163984559	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	11	163984559	7130508	531	26505										
PDE10A	10846	genome.wustl.edu	37	chr6	165756914	165756914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcatatatatcatttgccGtcaattttgtaacgggccac	7	10	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:165756914G>A	ENST00000366882.1	-	20	2187	c.2033C>T	c.(2032-2034)aCg>aTg	p.T678M	PDE10A_ENST00000354448.4_Missense_Mutation_p.T678M|PDE10A_ENST00000539869.2_Missense_Mutation_p.T688M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	678					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATCATTTGCCGTCAATTTTGT	0.378																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													125	120	122					6																	165756914		2203	4300	6503	SO:0001583	missense	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2033C>T	6.37:g.165756914G>A	ENSP00000355847:p.Thr678Met		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T688M	ENST00000366882.1	37	c.2063		6	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512963	0.85389	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76316	-1.01;-1.01	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044218	0.85682	D	0.000000	T	0.78755	0.4333	L	0.46885	1.475	0.58432	D	0.999999	D;D	0.71674	0.998;0.973	D;P	0.63793	0.918;0.554	T	0.80344	-0.1422	10	0.56958	D	0.05	.	12.6876	0.56956	0.0759:0.0:0.9241:0.0	.	688;678	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	678;706;688;678;677	ENSP00000355847:T678M;ENSP00000346435:T678M	ENSP00000341187:T688M	T	-	2	0	PDE10A	165676904	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	7.211000	0.77933	2.671000	0.90904	0.585000	0.79938	ACG	PDE10A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.378	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	G			165756914	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	missense	SNP	1.000	A	A	165756914	G	A	165756914	3	1	153	1	0	0	0	0	1	0	0	0	11654	1145	40	2	322	2	PDE10A	6	165756914	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1772355	165756914	5358153	532	26506										
RPS6KA2	6196	genome.wustl.edu	37	chr6	166827357	166827357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgaccacccacgggtgtttGagcacttgcatcgccgtcag	11	13	1	2	rs200027480		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:166827357G>A	ENST00000265678.4	-	20	2224	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	RPS6KA2_ENST00000503859.1_Silent_p.L675L|RPS6KA2_ENST00000481261.2_Silent_p.L578L|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Silent_p.L578L|RPS6KA2_ENST00000510118.1_Silent_p.L692L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	667	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACGGGTGTTTGAGCACTTGCA	0.612													G|||	1	0.000199681	0	0	5008	,	,		18501	0		0.001	False		,,,				2504	0																0													102	82	89					6																	166827357		2203	4300	6503	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2001C>T	6.37:g.166827357G>A			B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L692	ENST00000265678.4	37	c.2076	CCDS5294.1	6																																																																																			RPS6KA2	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.612	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166827357	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	silent	SNP	0.933	A	A	166827357	G	A	166827357	2	1	153	1	0	0	0	0	0	0	0	1	13681	1277	45	1		1	RPS6KA2	6	166827357	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1070443	166827357	4287710	533	26507										
SUN1	23353	genome.wustl.edu	37	chr7	909082	909082	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccacccagccgccttcactCtggagcacatccctaagacg	7	18	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:909082C>G	ENST00000405266.1	+	18	2212	c.2188C>G	c.(2188-2190)Ctg>Gtg	p.L730V	SUN1_ENST00000456758.2_Missense_Mutation_p.L882V|SUN1_ENST00000389574.3_Missense_Mutation_p.L610V|SUN1_ENST00000425407.2_Missense_Mutation_p.L610V|SUN1_ENST00000413514.2_Missense_Mutation_p.L491V|SUN1_ENST00000401592.1_Missense_Mutation_p.L693V|SUN1_ENST00000452783.2_Missense_Mutation_p.L590V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	720	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTTCACTCTGGAGCACAT	0.602																																																	0													86	94	91					7																	909082		2053	4213	6266	SO:0001583	missense	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2188C>G	7.37:g.909082C>G	ENSP00000384116:p.Leu730Val		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	pfam_RNA-bd_mt,pfam_Sad1_UNC_C	p.L882V	ENST00000405266.1	37	c.2644		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.198|7.198	0.592900|0.592900	0.13875|0.13875	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514|ENST00000433212	T;T;T;T;T;T;T;T|.	0.57273|.	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41|.	5.54|5.54	-2.53|-2.53	0.06326|0.06326	Sad1/UNC-like, C-terminal (2);|.	0.372351|.	0.27778|.	N|.	0.017898|.	T|T	0.28499|0.28499	0.0705|0.0705	L|L	0.39147|0.39147	1.195|1.195	0.30458|0.30458	N|N	0.774546|0.774546	B;B;B;B;B;B|.	0.25667|.	0.021;0.059;0.074;0.131;0.088;0.072|.	B;B;B;B;B;B|.	0.35607|.	0.206;0.126;0.077;0.126;0.072;0.062|.	T|T	0.38178|0.38178	-0.9673|-0.9673	10|5	0.72032|.	D|.	0.01|.	-8.3627|-8.3627	1.0106|1.0106	0.01496|0.01496	0.3147:0.3151:0.1642:0.2061|0.3147:0.3151:0.1642:0.2061	.|.	491;590;693;882;720;610|.	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5|.	.;.;.;.;SUN1_HUMAN;.|.	V|C	882;610;590;730;693;720;610;618;491|541	ENSP00000388743:L882V;ENSP00000374225:L610V;ENSP00000413439:L590V;ENSP00000384116:L730V;ENSP00000384015:L693V;ENSP00000392309:L610V;ENSP00000409909:L618V;ENSP00000389313:L491V|.	ENSP00000297445:L720V|.	L|S	+|+	1|2	2|0	SUN1|SUN1	875608|875608	0.000000|0.000000	0.05858|0.05858	0.032000|0.032000	0.17829|0.17829	0.193000|0.193000	0.23685|0.23685	-1.788000|-1.788000	0.01763|0.01763	-0.296000|-0.296000	0.08947|0.08947	-0.136000|-0.136000	0.14681|0.14681	CTG|TCT	SUN1	-	pfam_Sad1_UNC_C		0.602	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	SUN1	HGNC	protein_coding	OTTHUMT00000322566.1	C	NM_025154		909082	1	no_errors	ENST00000456758	ensembl	human	known	70_37	missense	SNP	0.000	G	G	909082	C	G	909082	3	3	153	1	0	0	0	0	1	0	0	0	15421	912	32	1	2326	1	SUN1	7	909082	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		909082	158229581	534	26508										
INTS1	26173	genome.wustl.edu	37	chr7	1523759	1523759	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcggggagagcttcgagaaGaggtgggacatgatggtgga	19	5	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:1523759G>C	ENST00000404767.3	-	25	3394	c.3309C>G	c.(3307-3309)ctC>ctG	p.L1103L	INTS1_ENST00000389470.4_Silent_p.L1265L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1103					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCTTCGAGAAGAGGTGGGACA	0.662																																																	0													62	73	69					7																	1523759		2125	4225	6350	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3309C>G	7.37:g.1523759G>C			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L1265	ENST00000404767.3	37	c.3795	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1523759	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1523759	G	C	1523759	2	2	153	1	0	0	0	0	0	0	0	1	7795	929	33	1		1	INTS1	7	1523759	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	614677	1523759	157614904	535	26509										
EIF3B	8662	genome.wustl.edu	37	chr7	2406170	2406170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttttcttaggtggagccatGatggcaaattctttgccaga	10	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:2406170G>A	ENST00000360876.4	+	8	1356	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	EIF3B_ENST00000397011.2_Missense_Mutation_p.D434N	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGAGCCATGATGGCAAATT	0.468																																																	0													91	89	90					7																	2406170		2203	4300	6503	SO:0001583	missense	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1300G>A	7.37:g.2406170G>A	ENSP00000354125:p.Asp434Asn			Missense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.D434N	ENST00000360876.4	37	c.1300	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.537208	0.96460	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.10288	2.89;2.89	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.67700	2.07	0.80722	D	1	D	0.55605	0.972	P	0.55965	0.788	T	0.00503	-1.1701	10	0.62326	D	0.03	-37.0483	19.557	0.95354	0.0:0.0:1.0:0.0	.	434	P55884	EIF3B_HUMAN	N	434;434;434;358	ENSP00000354125:D434N;ENSP00000380206:D434N	ENSP00000316638:D434N	D	+	1	0	EIF3B	2372696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.621000	0.98376	2.623000	0.88846	0.650000	0.86243	GAT	EIF3B	-	pirsf_eIF3b		0.468	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	G			2406170	1	no_errors	ENST00000360876	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2406170	G	A	2406170	3	1	153	1	0	0	0	0	1	0	0	0	5023	1290	45	1	1330	1	EIF3B	7	2406170	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	882411	2406170	156732493	536	26510										
SDK1	221935	genome.wustl.edu	37	chr7	4050690	4050690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggctcgtacctatcaattcCgggtgtgcgcggtgaatgaa	13	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:4050690C>T	ENST00000404826.2	+	15	2363	c.2224C>T	c.(2224-2226)Cgg>Tgg	p.R742W	SDK1_ENST00000389531.3_Missense_Mutation_p.R742W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	742	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTATCAATTCCGGGTGTGCGC	0.617																																																	0													50	46	47					7																	4050690		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2224C>T	7.37:g.4050690C>T	ENSP00000385899:p.Arg742Trp		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R742W	ENST00000404826.2	37	c.2224	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771920	0.49680	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.60920	0.15;0.15	5.55	-6.11	0.02131	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	H	0.99011	4.4	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87367	0.2348	10	0.87932	D	0	.	23.6547	0.99985	0.1906:0.8094:0.0:0.0	.	742;742	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	742	ENSP00000385899:R742W;ENSP00000374182:R742W	ENSP00000374182:R742W	R	+	1	2	SDK1	4017216	0.854000	0.29725	0.415000	0.26534	0.141000	0.21300	0.014000	0.13333	-1.418000	0.02014	-0.262000	0.10625	CGG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		4050690	1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.659	T	T	4050690	C	T	4050690	3	4	153	1	0	0	0	0	1	0	0	0	13998	643	23	2	2282	2	SDK1	7	4050690	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1644520	4050690	155087973	537	26511										
WIPI2	26100	genome.wustl.edu	37	chr7	5267828	5267828	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagggcggcgagtgtgccctGatgaagcagcaccggtgagt	18	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:5267828G>A	ENST00000288828.4	+	11	1339	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	WIPI2_ENST00000401525.3_Silent_p.L351L|WIPI2_ENST00000404704.3_Silent_p.L369L|WIPI2_ENST00000382384.2_Silent_p.L351L|WIPI2_ENST00000484262.1_Silent_p.L310L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	369					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AGTGTGCCCTGATGAAGCAGC	0.622																																																	0													36	38	37					7																	5267828		2203	4300	6503	SO:0001819	synonymous_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1107G>A	7.37:g.5267828G>A			B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L369	ENST00000288828.4	37	c.1107	CCDS5339.1	7																																																																																			WIPI2	-	NULL		0.622	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	G	NM_015610		5267828	1	no_errors	ENST00000288828	ensembl	human	known	70_37	silent	SNP	0.884	A	A	5267828	G	A	5267828	2	1	153	1	0	0	0	0	0	0	0	1	17402	1277	45	1		1	WIPI2	7	5267828	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1217138	5267828	153870835	538	26512										
SLC29A4	222962	genome.wustl.edu	37	chr7	5327568	5327568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggaggcggcggaggcggctCagggccagggccttagggcc	21	11	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:5327568C>G	ENST00000396872.3	+	2	282	c.121C>G	c.(121-123)Cag>Gag	p.Q41E	SLC29A4_ENST00000406453.3_Missense_Mutation_p.Q41E|SLC29A4_ENST00000297195.4_Missense_Mutation_p.Q41E			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	41				Q -> R (in Ref. 2; BAC03836). {ECO:0000305}.	transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GGAGGCGGCTCAGGGCCAGGG	0.667																																																	0													21	23	22					7																	5327568		2201	4292	6493	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.121C>G	7.37:g.5327568C>G	ENSP00000380081:p.Gln41Glu		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.Q41E	ENST00000396872.3	37	c.121	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205574	0.22205	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	3.89	2.99	0.34606	.	3.301720	0.01219	N	0.008059	T	0.35740	0.0942	L	0.41027	1.25	0.09310	N	1	B;B	0.33549	0.417;0.094	B;B	0.33454	0.164;0.039	T	0.31916	-0.9926	10	0.02654	T	1	-9.0266	11.6736	0.51417	0.0:0.8205:0.1795:0.0	.	41;41	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	E	41	ENSP00000406803:Q41E;ENSP00000380081:Q41E;ENSP00000413271:Q41E;ENSP00000297195:Q41E;ENSP00000385845:Q41E	ENSP00000297195:Q41E	Q	+	1	0	SLC29A4	5294094	0.927000	0.31430	0.002000	0.10522	0.059000	0.15707	1.057000	0.30492	0.589000	0.29677	0.484000	0.47621	CAG	SLC29A4	-	NULL		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5327568	1	no_errors	ENST00000297195	ensembl	human	known	70_37	missense	SNP	0.078	G	G	5327568	C	G	5327568	3	3	153	1	0	0	0	0	1	0	0	0	14567	827	29	1	123	1	SLC29A4	7	5327568	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	59740	5327568	153811095	539	26513										
SLC29A4	222962	genome.wustl.edu	37	chr7	5340178	5340178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcatgcccgccctccgtcaCcccgcctggccctgcatctt	9	21	2	0	rs146929623		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:5340178C>A	ENST00000396872.3	+	10	1496	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H431Q|SLC29A4_ENST00000297195.4_Missense_Mutation_p.H445Q			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	445					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CCCTCCGTCACCCCGCCTGGC	0.667																																																	0													135	125	128					7																	5340178		2203	4300	6503	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1335C>A	7.37:g.5340178C>A	ENSP00000380081:p.His445Gln		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.H445Q	ENST00000396872.3	37	c.1335	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	16.75	3.210239	0.58343	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.80738	-1.41;-1.41;-1.41	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	L	0.60455	1.87	0.53005	D	0.999969	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.982	D	0.85912	0.1441	10	0.34782	T	0.22	-39.4984	15.2091	0.73206	0.0:1.0:0.0:0.0	.	431;445	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	Q	445;445;431	ENSP00000380081:H445Q;ENSP00000297195:H445Q;ENSP00000385845:H431Q	ENSP00000297195:H445Q	H	+	3	2	SLC29A4	5306704	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	2.152000	0.42272	2.010000	0.58986	0.561000	0.74099	CAC	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5340178	1	no_errors	ENST00000297195	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5340178	C	A	5340178	3	1	153	1	0	0	0	0	1	0	0	0	14567	506	18	4	1369	4	SLC29A4	7	5340178	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12610	5340178	153798485	540	26514										
THSD7A	221981	genome.wustl.edu	37	chr7	11486868	11486868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tattcttaccaacaagagtgCgctttctggtcctaactgca	7	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:11486868C>T	ENST00000423059.4	-	12	3040	c.2789G>A	c.(2788-2790)cGc>cAc	p.R930H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	930	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAAGAGTGCGCTTTCTGGT	0.463										HNSCC(18;0.044)																																							0													82	75	77					7																	11486868		1942	4153	6095	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2789G>A	7.37:g.11486868C>T	ENSP00000406482:p.Arg930His			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R930H	ENST00000423059.4	37	c.2789	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.425012	0.96131	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.66099	-0.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79734	-0.1679	10	0.52906	T	0.07	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	930	Q9UPZ6	THS7A_HUMAN	H	930	ENSP00000406482:R930H	ENSP00000262042:R930H	R	-	2	0	THSD7A	11453393	1.000000	0.71417	0.948000	0.38648	0.987000	0.75469	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	CGC	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11486868	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11486868	C	T	11486868	3	4	153	1	0	0	0	0	1	0	0	0	15909	768	27	2	2248	2	THSD7A	7	11486868	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6146690	11486868	147651795	541	26515										
SNX13	23161	genome.wustl.edu	37	chr7	17836561	17836561	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccatttggccaaaatgcatCtctatttgagaagattaaat	7	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:17836561C>T	ENST00000409389.1	-	25	2720	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Splice_Site_p.D839N			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	850					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CAAAATGCATCTCTATTTGAG	0.299																																																	0													151	135	140					7																	17836561		1809	4074	5883	SO:0001630	splice_region_variant	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2547-1G>A	7.37:g.17836561C>T			B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D839N	ENST00000409389.1	37	c.2515		7	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430147	0.43122	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.31247	1.5;1.5	5.02	5.02	0.67125	.	0.044346	0.85682	D	0.000000	T	0.30727	0.0774	L	0.42008	1.315	0.80722	D	1	B;B;B	0.25169	0.008;0.119;0.019	B;B;B	0.25614	0.014;0.062;0.013	T	0.05649	-1.0872	10	0.39692	T	0.17	-15.4539	18.3665	0.90392	0.0:1.0:0.0:0.0	.	636;850;839	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	N	850;839;887	ENSP00000386705:D850N;ENSP00000398789:D839N	ENSP00000242044:D887N	D	-	1	0	SNX13	17803086	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.327000	0.79052	0.557000	0.71058	GAT	SNX13	-	pfam_Sorting_nexin_C		0.299	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	C	NM_015132	Missense_Mutation	17836561	-1	no_errors	ENST00000428135	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	17836561	C	T	17836561	5	4	153	1	0	0	0	0	0	0	1	0	14914	927	32	1	366	1	SNX13	7	17836561	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6349693	17836561	141302102	542	26516										
SP4	6671	genome.wustl.edu	37	chr7	21469217	21469217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaaactaaatcaggtaattCttccacccctggtcaatttc	4	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:21469217C>G	ENST00000222584.3	+	3	652	c.434C>G	c.(433-435)tCt>tGt	p.S145C		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	145					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAGGTAATTCTTCCACCCCT	0.403																																																	0													72	70	71					7																	21469217		2203	4300	6503	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.434C>G	7.37:g.21469217C>G	ENSP00000222584:p.Ser145Cys		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S145C	ENST00000222584.3	37	c.434	CCDS5373.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.29|10.29	1.310661|1.310661	0.23821|0.23821	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000446800|ENST00000222584	.|T	.|0.10288	.|2.89	4.46|4.46	2.6|2.6	0.31112|0.31112	.|.	.|0.488510	.|0.23861	.|N	.|0.043859	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.08118|0.08118	0|0	0.29642|0.29642	N|N	0.844635|0.844635	.|B	.|0.22480	.|0.07	.|B	.|0.27170	.|0.077	T|T	0.15263|0.15263	-1.0443|-1.0443	6|10	0.87932|0.59425	D|D	0|0.04	.|.	10.6403|10.6403	0.45590|0.45590	0.0:0.8407:0.0:0.1593|0.0:0.8407:0.0:0.1593	.|.	.|145	.|Q02446	.|SP4_HUMAN	V|C	122|145	.|ENSP00000222584:S145C	ENSP00000402421:L122V|ENSP00000222584:S145C	L|S	+|+	1|2	0|0	SP4|SP4	21435742|21435742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.907000|1.907000	0.39897|0.39897	1.094000|1.094000	0.41399|0.41399	0.655000|0.655000	0.94253|0.94253	CTT|TCT	SP4	-	NULL		0.403	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	C	NM_003112		21469217	1	no_errors	ENST00000222584	ensembl	human	known	70_37	missense	SNP	0.998	G	G	21469217	C	G	21469217	3	3	153	1	0	0	0	0	1	0	0	0	14996	913	32	1	444	1	SP4	7	21469217	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3632656	21469217	137669446	543	26517										
DNAH11	8701	genome.wustl.edu	37	chr7	21646158	21646158	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaaaaaatgtattttgtttGacgtaagctagttaccaagt	9	4	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:21646158G>C	ENST00000409508.3	+	19	3794	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1255H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1255	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTTGTTTGACGTAAGCTA	0.308									Kartagener syndrome																																								0													69	65	66					7																	21646158		1830	4089	5919	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3763G>C	7.37:g.21646158G>C	ENSP00000475939:p.Asp1255His		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D1255H	ENST00000409508.3	37	c.3763		7	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706113	0.68615	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.65	5.65	0.86999	.	0.056306	0.64402	D	0.000001	T	0.29355	0.0731	.	.	.	0.58432	D	0.999991	P	0.47409	0.895	P	0.47673	0.554	T	0.00749	-1.1582	9	0.42905	T	0.14	.	15.2425	0.73482	0.0:0.0:0.8589:0.1411	.	1255	Q96DT5	DYH11_HUMAN	H	1255	ENSP00000330671:D1255H	ENSP00000330671:D1255H	D	+	1	0	DNAH11	21612683	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	9.396000	0.97270	2.659000	0.90383	0.655000	0.94253	GAC	DNAH11	-	NULL		0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21646158	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21646158	G	C	21646158	3	2	153	1	0	0	0	0	1	0	0	0	4609	1290	45	1	3837	1	DNAH11	7	21646158	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	176941	21646158	137492505	544	26518										
FAM126A	84668	genome.wustl.edu	37	chr7	22985680	22985680	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tacaattgtgactactgtttGataaacccgactggctggta	9	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:22985680G>C	ENST00000432176.2	-	11	1326	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	365					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ACTACTGTTTGATAAACCCGA	0.423																																																	0													104	109	107					7																	22985680		2203	4300	6503	SO:0001587	stop_gained	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1094C>G	7.37:g.22985680G>C	ENSP00000403396:p.Ser365*		A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	pfam_Hyccin	p.S365*	ENST00000432176.2	37	c.1094	CCDS5377.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.676083	0.96764	.	.	ENSG00000122591	ENST00000432176	.	.	.	6.17	5.3	0.74995	.	0.275715	0.42548	D	0.000694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.3443	15.5968	0.76590	0.0655:0.0:0.9345:0.0	.	.	.	.	X	365	.	ENSP00000403396:S365X	S	-	2	0	FAM126A	22952205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.053000	0.57427	1.627000	0.50400	0.655000	0.94253	TCA	FAM126A	-	NULL		0.423	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126A	HGNC	protein_coding	OTTHUMT00000250230.1	G	NM_032581		22985680	-1	no_errors	ENST00000432176	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	22985680	G	C	22985680	4	2	153	1	0	0	0	0	0	1	0	0	5444	1294	45	1	475	1	FAM126A	7	22985680	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1339522	22985680	136152983	545	26519										
HOXA3	3200	genome.wustl.edu	37	chr7	27150136	27150136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggtcggtggtactcgccgtCggcgcccaaagcggcggacg	18	13	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:27150136C>T	ENST00000396352.4	-	2	323	c.124G>A	c.(124-126)Gac>Aac	p.D42N	HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.D42N|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	42			D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D42N(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TACTCGCCGTCGGCGCCCAAA	0.682																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												1	Substitution - Missense(1)	breast(1)											17	16	16					7																	27150136		2124	4183	6307	SO:0001583	missense	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.124G>A	7.37:g.27150136C>T	ENSP00000379640:p.Asp42Asn		A4D181	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D42N	ENST00000396352.4	37	c.124	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325062	0.81580	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.49	5.49	0.81192	.	0.144240	0.64402	D	0.000009	T	0.31071	0.0785	N	0.19112	0.55	0.39098	D	0.961235	B	0.21452	0.056	B	0.14578	0.011	T	0.16630	-1.0396	10	0.87932	D	0	.	15.1097	0.72346	0.1503:0.8497:0.0:0.0	.	42	O43365	HXA3_HUMAN	N	42	ENSP00000379640:D42N;ENSP00000324884:D42N;ENSP00000429426:D42N;ENSP00000430566:D42N	ENSP00000324884:D42N	D	-	1	0	HOXA3	27116661	1.000000	0.71417	0.174000	0.22961	0.681000	0.39784	7.384000	0.79751	2.595000	0.87683	0.462000	0.41574	GAC	HOXA3	-	NULL		0.682	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	C			27150136	-1	no_errors	ENST00000317201	ensembl	human	known	70_37	missense	SNP	0.942	T	T	27150136	C	T	27150136	3	4	153	1	0	0	0	0	1	0	0	0	7313	884	31	1	1215	1	HOXA3	7	27150136	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4164456	27150136	131988527	546	26520										
CREB5	9586	genome.wustl.edu	37	chr7	28534554	28534554	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagaggaccatctgatgattCataggcacaaacatgaaatg	9	8	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:28534554C>T	ENST00000357727.2	+	3	496	c.106C>T	c.(106-108)Cat>Tat	p.H36Y	CREB5_ENST00000396300.2_Missense_Mutation_p.H29Y|CREB5_ENST00000396299.2_Missense_Mutation_p.H3Y|CREB5_ENST00000409603.1_Missense_Mutation_p.H3Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	36					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCTGATGATTCATAGGCACAA	0.388																																																	0													129	137	134					7																	28534554		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.106C>T	7.37:g.28534554C>T	ENSP00000350359:p.His36Tyr		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.H36Y	ENST00000357727.2	37	c.106	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976547	0.74360	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;D;D;D;T	0.98120	1.44;-4.73;-4.73;-4.73;1.44	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	M	0.84082	2.675	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.99556	1.0967	10	0.87932	D	0	-13.1242	19.9596	0.97236	0.0:1.0:0.0:0.0	.	36	Q02930	CREB5_HUMAN	Y	3;29;36;29;3	ENSP00000379593:H3Y;ENSP00000394088:H29Y;ENSP00000350359:H36Y;ENSP00000379594:H29Y;ENSP00000387197:H3Y	ENSP00000350359:H36Y	H	+	1	0	CREB5	28501079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.726000	0.93360	0.655000	0.94253	CAT	CREB5	-	pirsf_TF_cAMP-dep,pfscan_Znf_C2H2		0.388	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28534554	1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28534554	C	T	28534554	3	4	153	1	0	0	0	0	1	0	0	0	3865	826	29	1	116	1	CREB5	7	28534554	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1384418	28534554	130604109	547	26521										
AOAH	313	genome.wustl.edu	37	chr7	36579973	36579973	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcccagagaaaggttccatCtggtaagccatacaaaataa	7	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:36579973C>G	ENST00000258749.5	-	16	1657	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000431169.1_Missense_Mutation_p.D420H|AOAH_ENST00000538464.1_Missense_Mutation_p.D142H|AOAH_ENST00000535891.1_Missense_Mutation_p.D388H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	420					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGGTTCCATCTGGTAAGCCA	0.403																																																	0													94	89	91					7																	36579973		2203	4300	6503	SO:0001583	missense	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1258G>C	7.37:g.36579973C>G	ENSP00000258749:p.Asp420His		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.D420H	ENST00000258749.5	37	c.1258	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740806	0.49151	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.98	4.17	0.49024	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.087235	0.49916	D	0.000133	T	0.18383	0.0441	.	.	.	0.39740	D	0.971736	B;P;B	0.44260	0.203;0.83;0.203	B;B;B	0.42692	0.148;0.395;0.105	T	0.02104	-1.1213	9	0.62326	D	0.03	.	9.2426	0.37506	0.0:0.7762:0.1462:0.0775	.	388;420;420	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	H	142;388;420;420;420	ENSP00000439283:D142H;ENSP00000441101:D388H;ENSP00000258749:D420H;ENSP00000405683:D420H	ENSP00000258749:D420H	D	-	1	0	AOAH	36546498	0.656000	0.27385	0.996000	0.52242	0.989000	0.77384	0.326000	0.19646	0.850000	0.35239	0.655000	0.94253	GAT	AOAH	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.403	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36579973	-1	no_errors	ENST00000258749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36579973	C	G	36579973	3	3	153	1	0	0	0	0	1	0	0	0	726	913	32	1	834	1	AOAH	7	36579973	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8045419	36579973	122558690	548	26522										
EPDR1	54749	genome.wustl.edu	37	chr7	37960781	37960781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagcgcgtgcgggtgctggaCgagaggaaggcgctgatccc	18	11	0	2	rs79929812	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:37960781C>T	ENST00000199448.4	+	1	619	c.240C>T	c.(238-240)gaC>gaT	p.D80D	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Silent_p.D80D|EPDR1_ENST00000559325.1_Silent_p.D200D|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	80					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGGTGCTGGACGAGAGGAAGG	0.697																																																	0													16	17	16					7																	37960781		2106	4139	6245	SO:0001819	synonymous_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.240C>T	7.37:g.37960781C>T			A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.D200	ENST00000199448.4	37	c.600	CCDS5454.2	7																																																																																			EPDR1	-	smart_Ependymin		0.697	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	C	NM_017549		37960781	1	no_errors	ENST00000559325	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37960781	C	T	37960781	2	4	153	1	0	0	0	0	0	0	0	1	5175	535	19	2		2	EPDR1	7	37960781	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1380808	37960781	121177882	549	26523										
ADCY1	107	genome.wustl.edu	37	chr7	45717777	45717777	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttacacagtaccaccagcttCaggacgagtatttcaccagc	7	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:45717777C>T	ENST00000297323.7	+	10	1835	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	605					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACCAGCTTCAGGACGAGTA	0.527																																																	0													206	190	196					7																	45717777		2203	4300	6503	SO:0001587	stop_gained	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1813C>T	7.37:g.45717777C>T	ENSP00000297323:p.Gln605*		A4D2L8|Q75MI1	Nonsense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q605*	ENST00000297323.7	37	c.1813	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.102774	0.98066	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	.	.	.	5.02	5.02	0.67125	.	0.205910	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.194	0.82011	0.0:1.0:0.0:0.0	.	.	.	.	X	605	.	ENSP00000297323:Q605X	Q	+	1	0	ADCY1	45684302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.216000	0.42871	2.482000	0.83794	0.655000	0.94253	CAG	ADCY1	-	NULL		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45717777	1	no_errors	ENST00000297323	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	45717777	C	T	45717777	4	4	153	1	0	0	0	0	0	1	0	0	292	827	29	1	1851	1	ADCY1	7	45717777	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7756996	45717777	113420886	550	26524										
ADCY1	107	genome.wustl.edu	37	chr7	45726197	45726197	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgattgtggccatcctgctCttctcctgtgcgctggccct	10	16	2	0	rs148089389	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:45726197C>G	ENST00000297323.7	+	14	2401	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	793					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATCCTGCTCTTCTCCTGTG	0.627																																																	0								C		0,4406		0,0,2203	52	50	51		2379	-1.1	1	7	dbSNP_134	51	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ADCY1	NM_021116.2		0,4,6499	GG,GC,CC		0.0465,0.0,0.0308		793/1120	45726197	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2379C>G	7.37:g.45726197C>G			A4D2L8|Q75MI1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L793	ENST00000297323.7	37	c.2379	CCDS34631.1	7																																																																																			ADCY1	-	NULL		0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45726197	1	no_errors	ENST00000297323	ensembl	human	known	70_37	silent	SNP	0.960	G	G	45726197	C	G	45726197	2	3	153	1	0	0	0	0	0	0	0	1	292	900	32	1		1	ADCY1	7	45726197	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8420	45726197	113412466	551	26525										
VOPP1	81552	genome.wustl.edu	37	chr7	55540725	55540725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcggtgtaatagggcggcccCggctgctgggctcctgaaag	16	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:55540725C>T	ENST00000285279.5	-	5	542	c.342G>A	c.(340-342)ccG>ccA	p.P114P	VOPP1_ENST00000428648.1_Silent_p.P47P|VOPP1_ENST00000545390.1_Silent_p.P111P|VOPP1_ENST00000418904.1_Silent_p.P97P|VOPP1_ENST00000453256.1_Silent_p.P47P|VOPP1_ENST00000428097.1_Silent_p.P47P|VOPP1_ENST00000433959.1_Silent_p.P105P|VOPP1_ENST00000454227.1_Silent_p.P51P|VOPP1_ENST00000427700.1_Silent_p.P112P	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						AGGGCGGCCCCGGCTGCTGGG	0.607																																																	0													32	37	36					7																	55540725		1898	4100	5998	SO:0001819	synonymous_variant	81552				CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"Glioblastoma-amplified secreted protein", "EGFR-coamplified and overexpressed protein"	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.342G>A	7.37:g.55540725C>T			B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Silent	SNP	NULL	p.P114	ENST00000285279.5	37	c.342	CCDS47588.1	7																																																																																			VOPP1	-	NULL		0.607	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VOPP1	HGNC	protein_coding	OTTHUMT00000343074.1	C	NM_030796		55540725	-1	no_errors	ENST00000285279	ensembl	human	known	70_37	silent	SNP	0.999	T	T	55540725	C	T	55540725	2	4	153	1	0	0	0	0	0	0	0	1	17215	639	23	2		2	VOPP1	7	55540725	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9814528	55540725	103597938	552	26526										
AUTS2	26053	genome.wustl.edu	37	chr7	70252204	70252204	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccatttcagcacccaactCaatgttcggccacaaggatg	7	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:70252204C>G	ENST00000342771.4	+	18	2639	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.S749*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	773										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCACCCAACTCAATGTTCGGC	0.473																																																	0													53	43	46					7																	70252204		2203	4300	6503	SO:0001587	stop_gained	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2318C>G	7.37:g.70252204C>G	ENSP00000344087:p.Ser773*		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	prints_AUTS2	p.S773*	ENST00000342771.4	37	c.2318	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.338422	0.95783	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	.	.	.	5.33	5.33	0.75918	.	0.369288	0.29021	N	0.013396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.5613	19.0137	0.92884	0.0:1.0:0.0:0.0	.	.	.	.	X	749;773;53	.	.	S	+	2	0	AUTS2	69890140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.602000	0.61098	2.505000	0.84491	0.655000	0.94253	TCA	AUTS2	-	NULL		0.473	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70252204	1	no_errors	ENST00000342771	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	70252204	C	G	70252204	4	3	153	1	0	0	0	0	0	1	0	0	1226	838	29	1	2533	1	AUTS2	7	70252204	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	14711479	70252204	88886459	553	26527										
WBSCR17	64409	genome.wustl.edu	37	chr7	71130547	71130547	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctggatggacgattacaagtCtcatgtgtacatagcgtgga	12	7	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:71130547C>G	ENST00000333538.5	+	7	1866	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	411					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATTACAAGTCTCATGTGTAC	0.483																																																	0													106	87	93					7																	71130547		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1232C>G	7.37:g.71130547C>G	ENSP00000329654:p.Ser411Cys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S411C	ENST00000333538.5	37	c.1232	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868959	0.72065	.	.	ENSG00000185274	ENST00000333538	T	0.69306	-0.39	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.84433	2.695	0.53005	D	0.999967	D	0.89917	1.0	D	0.79784	0.993	D	0.85097	0.0955	10	0.72032	D	0.01	.	14.8307	0.70146	0.0:0.7449:0.2551:0.0	.	411	Q6IS24	GLTL3_HUMAN	C	411	ENSP00000329654:S411C	ENSP00000329654:S411C	S	+	2	0	WBSCR17	70768483	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.233000	0.51311	2.770000	0.95276	0.563000	0.77884	TCT	WBSCR17	-	NULL		0.483	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		71130547	1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71130547	C	G	71130547	3	3	153	1	0	0	0	0	1	0	0	0	17295	913	32	1	1258	1	WBSCR17	7	71130547	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	878343	71130547	88008116	554	26528										
PTPN12	5782	genome.wustl.edu	37	chr7	77256266	77256266	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaaaaatgaatcaacaattGaacagatagataaaaaattg	7	3	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:77256266G>A	ENST00000248594.6	+	13	1542	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	PTPN12_ENST00000415482.2_Missense_Mutation_p.E305K|PTPN12_ENST00000435495.2_Missense_Mutation_p.E294K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	424	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCAACAATTGAACAGATAGA	0.358																																																	0													40	43	42					7																	77256266		2203	4300	6503	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1270G>A	7.37:g.77256266G>A	ENSP00000248594:p.Glu424Lys		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E424K	ENST00000248594.6	37	c.1270	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456497	0.84317	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.08634	3.67;3.07;3.07	6.17	6.17	0.99709	.	0.224065	0.46442	D	0.000288	T	0.16727	0.0402	M	0.69823	2.125	0.50039	D	0.999845	B	0.30634	0.288	B	0.34489	0.184	T	0.00548	-1.1677	10	0.51188	T	0.08	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	424	Q05209	PTN12_HUMAN	K	424;305;305;294	ENSP00000248594:E424K;ENSP00000392429:E305K;ENSP00000397991:E294K	ENSP00000248594:E424K	E	+	1	0	PTPN12	77094202	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	6.717000	0.74707	2.941000	0.99782	0.655000	0.94253	GAA	PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12		0.358	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	G			77256266	1	no_errors	ENST00000248594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77256266	G	A	77256266	3	1	153	1	0	0	0	0	1	0	0	0	12809	1291	45	1	1320	1	PTPN12	7	77256266	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6125719	77256266	81882397	555	26529										
PCLO	27445	genome.wustl.edu	37	chr7	82580629	82580629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggtgttggagttgctactGaagaatagacaacaccatta	11	6	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:82580629G>A	ENST00000333891.9	-	6	9612	c.9275C>T	c.(9274-9276)tCa>tTa	p.S3092L	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.S3092L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTGCTACTGAAGAATAGAC	0.473																																																	0													109	107	107					7																	82580629		1993	4168	6161	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9275C>T	7.37:g.82580629G>A	ENSP00000334319:p.Ser3092Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S3092L	ENST00000333891.9	37	c.9275	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000157	0.35320	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21031	2.03;2.03	5.37	5.37	0.77165	.	.	.	.	.	T	0.46112	0.1376	M	0.63843	1.955	0.80722	D	1	P;D;D	0.76494	0.941;0.999;0.999	P;D;D	0.74023	0.683;0.982;0.982	T	0.41627	-0.9498	9	0.87932	D	0	.	18.705	0.91633	0.0:0.0:1.0:0.0	.	3023;3092;3092	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3023;3092;3092	ENSP00000334319:S3092L;ENSP00000388393:S3092L	ENSP00000334319:S3092L	S	-	2	0	PCLO	82418565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.789000	0.99068	2.524000	0.85096	0.563000	0.77884	TCA	PCLO	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82580629	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82580629	G	A	82580629	3	1	153	1	0	0	0	0	1	0	0	0	11607	1294	45	1	6250	1	PCLO	7	82580629	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5324363	82580629	76558034	556	26530										
LMTK2	22853	genome.wustl.edu	37	chr7	97821308	97821308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctatccggttgaagtttttGagagttcgctttcagatcct	9	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:97821308G>C	ENST00000297293.5	+	11	1824	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	511					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGAAGTTTTTGAGAGTTCGCT	0.577																																																	0													45	50	49					7																	97821308		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1531G>C	7.37:g.97821308G>C	ENSP00000297293:p.Glu511Gln		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E511Q	ENST00000297293.5	37	c.1531	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021805	0.35701	.	.	ENSG00000164715	ENST00000297293	T	0.78595	-1.19	5.87	5.87	0.94306	.	0.052727	0.85682	D	0.000000	T	0.72447	0.3461	L	0.48877	1.53	0.40066	D	0.975958	B	0.33103	0.397	B	0.34779	0.189	T	0.72117	-0.4387	10	0.46703	T	0.11	.	12.8356	0.57771	0.074:0.0:0.926:0.0	.	511	Q8IWU2	LMTK2_HUMAN	Q	511	ENSP00000297293:E511Q	ENSP00000297293:E511Q	E	+	1	0	LMTK2	97659244	1.000000	0.71417	0.996000	0.52242	0.373000	0.29922	2.768000	0.47645	2.941000	0.99782	0.655000	0.94253	GAG	LMTK2	-	NULL		0.577	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	G	NM_014916		97821308	1	no_errors	ENST00000297293	ensembl	human	known	70_37	missense	SNP	1.000	C	C	97821308	G	C	97821308	3	2	153	1	0	0	0	0	1	0	0	0	8880	1291	45	1	1573	1	LMTK2	7	97821308	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	15240679	97821308	61317355	557	26531										
TRRAP	8295	genome.wustl.edu	37	chr7	98592351	98592351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcacgtttggggtgggcctgGagaatgtgtccaacgtctcg	16	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:98592351G>C	ENST00000359863.4	+	66	10356	c.10147G>C	c.(10147-10149)Gag>Cag	p.E3383Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3372Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3354Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3383					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGGCCTGGAGAATGTGTC	0.567																																																	0													179	172	174					7																	98592351		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10147G>C	7.37:g.98592351G>C	ENSP00000352925:p.Glu3383Gln		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3383Q	ENST00000359863.4	37	c.10147	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.947593|4.947593	0.92593|0.92593	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02974|.	4.09;4.09|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78910|0.78910	0.4358|0.4358	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;P;P|.	0.67145|.	0.996;0.866;0.929|.	P;B;P|.	0.58820|.	0.846;0.316;0.462|.	T|T	0.79792|0.79792	-0.1654|-0.1654	10|5	0.33141|.	T|.	0.24|.	.|.	18.9356|18.9356	0.92584|0.92584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3354;3111;3383|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|C	3383;3354;3371|3111	ENSP00000352925:E3383Q;ENSP00000347733:E3354Q|.	ENSP00000347733:E3354Q|.	E|W	+|+	1|3	0|0	TRRAP|TRRAP	98430287|98430287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.869000|9.869000	0.99810|0.99810	2.460000|2.460000	0.83146|0.83146	0.462000|0.462000	0.41574|0.41574	GAG|TGG	TRRAP	-	NULL		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98592351	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98592351	G	C	98592351	3	2	153	1	0	0	0	0	1	0	0	0	16632	1175	41	1	10314	1	TRRAP	7	98592351	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	771043	98592351	60546312	558	26532										
GATS	352954	genome.wustl.edu	37	chr7	99821295	99821295	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgatgacaacgtgtgggtGacaaagggcaggtcccgctt	14	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:99821295G>C	ENST00000436886.2	-	4	686	c.438C>G	c.(436-438)gtC>gtG	p.V146V	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	146										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGTGTGGGTGACAAAGGGCA	0.597																																																	0													198	210	206					7																	99821295		2133	4243	6376	SO:0001819	synonymous_variant	352954			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"stromal antigen 3 opposite strand"					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.438C>G	7.37:g.99821295G>C			D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	NULL	p.V146	ENST00000436886.2	37	c.438	CCDS43621.1	7																																																																																			GATS	-	NULL		0.597	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GATS	Uniprot_genename	protein_coding		G	NM_178831		99821295	-1	no_errors	ENST00000436886	ensembl	human	known	70_37	silent	SNP	1.000	C	C	99821295	G	C	99821295	2	2	153	1	0	0	0	0	0	0	0	1	6283	1277	45	1		1	GATS	7	99821295	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1228944	99821295	59317368	559	26533										
VGF	7425	genome.wustl.edu	37	chr7	100807818	100807818	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcttcctccggcccctgctGggagccgcttggtgccgggg	15	15	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:100807818G>A	ENST00000249330.2	-	2	546	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	VGF_ENST00000445482.2_Nonsense_Mutation_p.Q103*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	103					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCCCTGCTGGGAGCCGCTT	0.736																																																	0													7	9	8					7																	100807818		2095	4093	6188	SO:0001587	stop_gained	7425			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.307C>T	7.37:g.100807818G>A	ENSP00000249330:p.Gln103*		Q9UDW8	Nonsense_Mutation	SNP	NULL	p.Q103*	ENST00000249330.2	37	c.307	CCDS5712.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622229	0.46840	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	4.67	3.77	0.43336	.	0.145191	0.28465	N	0.015243	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.8322	9.8069	0.40799	0.0:0.0:0.7949:0.2051	.	.	.	.	X	103	.	ENSP00000249330:Q103X	Q	-	1	0	VGF	100594538	0.999000	0.42202	0.968000	0.41197	0.095000	0.18619	1.740000	0.38228	1.165000	0.42670	0.555000	0.69702	CAG	VGF	-	NULL		0.736	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGF	HGNC	protein_coding	OTTHUMT00000347462.1	G	NM_003378		100807818	-1	no_errors	ENST00000249330	ensembl	human	known	70_37	nonsense	SNP	0.164	A	A	100807818	G	A	100807818	4	1	153	1	0	0	0	0	0	1	0	0	17188	1357	47	4	1544	4	VGF	7	100807818	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	986523	100807818	58330845	560	26534										
CUX1	1523	genome.wustl.edu	37	chr7	101740715	101740715	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctgcacgatattgaaacaGagaaccagaaacttagggaa	10	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:101740715G>A	ENST00000292535.7	+	5	378	c.340G>A	c.(340-342)Gag>Aag	p.E114K	CUX1_ENST00000547394.2_Missense_Mutation_p.E109K|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E114K|CUX1_ENST00000292538.4_Missense_Mutation_p.E125K|CUX1_ENST00000393824.3_Missense_Mutation_p.E88K|CUX1_ENST00000437600.4_Missense_Mutation_p.E125K|CUX1_ENST00000360264.3_Missense_Mutation_p.E125K|CUX1_ENST00000550008.2_Missense_Mutation_p.E114K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Missense_Mutation_p.E114K|CUX1_ENST00000546411.2_Missense_Mutation_p.E114K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	114					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TATTGAAACAGAGAACCAGAA	0.448																																																	0													95	98	97					7																	101740715		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.340G>A	7.37:g.101740715G>A	ENSP00000292535:p.Glu114Lys		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E125K	ENST00000292535.7	37	c.373	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.846256	0.97016	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T	0.77489	0.99;0.99;0.99;0.99;0.99;-1.1;0.99;0.99;0.99	6.06	6.06	0.98353	.	0.120742	0.56097	D	0.000033	D	0.84995	0.5596	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.997;0.999;0.998;0.959;0.998	P;D;D;D;P;D	0.80764	0.877;0.985;0.988;0.991;0.556;0.994	D	0.85000	0.0899	10	0.66056	D	0.02	-36.5833	18.8014	0.92018	0.0:0.0:1.0:0.0	.	88;114;109;125;125;125	B4DZZ2;P39880;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;CASP_HUMAN;.	K	125;109;125;125;125;114;114;114;114;114	ENSP00000292538:E125K;ENSP00000449371:E109K;ENSP00000353401:E125K;ENSP00000414091:E125K;ENSP00000292535:E114K;ENSP00000446630:E114K;ENSP00000447373:E114K;ENSP00000450125:E114K;ENSP00000451558:E114K	ENSP00000292535:E114K	E	+	1	0	CUX1	101527435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.103000	0.94232	2.882000	0.98803	0.655000	0.94253	GAG	CUX1	-	NULL		0.448	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913		101740715	1	no_errors	ENST00000360264	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101740715	G	A	101740715	3	1	153	1	0	0	0	0	1	0	0	0	4069	943	33	1	425	1	CUX1	7	101740715	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	932897	101740715	57397948	561	26535										
SRPK2	6733	genome.wustl.edu	37	chr7	104783727	104783727	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccaataactcagcctgcctCttctgtttctttttcagttt	4	12	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:104783727C>T	ENST00000393651.3	-	10	951	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SRPK2_ENST00000489828.1_Silent_p.K277K|SRPK2_ENST00000357311.3_Silent_p.K277K	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGCCTGCCTCTTCTGTTTCT	0.378																																																	0													63	64	63					7																	104783727		2203	4300	6503	SO:0001819	synonymous_variant	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.864G>A	7.37:g.104783727C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K288	ENST00000393651.3	37	c.864	CCDS34724.1	7																																																																																			SRPK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		104783727	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	silent	SNP	1.000	T	T	104783727	C	T	104783727	2	4	153	1	0	0	0	0	0	0	0	1	15190	912	32	1		1	SRPK2	7	104783727	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3043012	104783727	54354936	562	26536										
SYPL1	6856	genome.wustl.edu	37	chr7	105739677	105739677	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggacaattcacttgaatttCtgtttggcccttaaaacctc	6	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:105739677C>T	ENST00000011473.2	-	3	221	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	SYPL1_ENST00000455385.2_Missense_Mutation_p.E41K|SYPL1_ENST00000470347.1_Missense_Mutation_p.E41K	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	59	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ACTTGAATTTCTGTTTGGCCC	0.333																																																	0													85	85	85					7																	105739677		2203	4300	6503	SO:0001583	missense	6856				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.175G>A	7.37:g.105739677C>T	ENSP00000011473:p.Glu59Lys		A4D0R2|Q96AR8	Missense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.E59K	ENST00000011473.2	37	c.175	CCDS5736.1	7	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218814	0.39201	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.29655	1.57;1.56;1.58	4.97	3.12	0.35913	Marvel (1);MARVEL-like domain (1);	0.642363	0.16761	N	0.200581	T	0.22627	0.0546	L	0.39514	1.22	0.36187	D	0.849828	P	0.39576	0.679	B	0.41135	0.348	T	0.09400	-1.0676	10	0.08837	T	0.75	.	8.0199	0.30404	0.0:0.7432:0.0:0.2568	.	59	Q16563	SYPL1_HUMAN	K	41;59;41	ENSP00000388336:E41K;ENSP00000011473:E59K;ENSP00000419070:E41K	ENSP00000011473:E59K	E	-	1	0	SYPL1	105526913	0.976000	0.34144	1.000000	0.80357	0.884000	0.51177	0.825000	0.27393	1.223000	0.43536	0.460000	0.39030	GAA	SYPL1	-	pfam_MARVEL-like_dom		0.333	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYPL1	HGNC	protein_coding	OTTHUMT00000349221.1	C			105739677	-1	no_errors	ENST00000011473	ensembl	human	known	70_37	missense	SNP	0.909	T	T	105739677	C	T	105739677	3	4	153	1	0	0	0	0	1	0	0	0	15492	922	32	1	620	1	SYPL1	7	105739677	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	955950	105739677	53398986	563	26537										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518448	113518448	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagtgtctgagttaaaagcaGaatgcacaatggcatccgag	11	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:113518448G>A	ENST00000284601.3	-	4	2767	c.2699C>T	c.(2698-2700)tCt>tTt	p.S900F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	900					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTAAAAGCAGAATGCACAAT	0.378																																																	0													88	85	86					7																	113518448		2203	4299	6502	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2699C>T	7.37:g.113518448G>A	ENSP00000284601:p.Ser900Phe		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S900F	ENST00000284601.3	37	c.2699	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	9.959	1.222346	0.22457	.	.	ENSG00000154415	ENST00000284601	T	0.19938	2.11	5.81	4.85	0.62838	.	0.565635	0.17468	N	0.173197	T	0.37705	0.1013	M	0.69823	2.125	0.09310	N	1	D	0.64830	0.994	P	0.59221	0.854	T	0.16158	-1.0412	10	0.37606	T	0.19	-6.7808	10.032	0.42107	0.0:0.1134:0.6636:0.2229	.	900	Q16821	PPR3A_HUMAN	F	900	ENSP00000284601:S900F	ENSP00000284601:S900F	S	-	2	0	PPP1R3A	113305684	0.005000	0.15991	0.973000	0.42090	0.217000	0.24651	1.309000	0.33539	2.730000	0.93505	0.650000	0.86243	TCT	PPP1R3A	-	NULL		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113518448	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.003	A	A	113518448	G	A	113518448	3	1	153	1	0	0	0	0	1	0	0	0	12398	942	33	1	673	1	PPP1R3A	7	113518448	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7778771	113518448	45620215	564	26538										
TES	26136	genome.wustl.edu	37	chr7	115892027	115892027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccgatgtgctggctgtgacGaggtatgttctatgggacca	14	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:115892027G>A	ENST00000358204.4	+	5	1131	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TES_ENST00000537767.1_Missense_Mutation_p.E64K|TES_ENST00000393481.2_Missense_Mutation_p.E297K|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	306	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGGCTGTGACGAGGTATGTTC	0.483																																																	0													62	55	57					7																	115892027		2203	4300	6503	SO:0001583	missense	26136			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.916G>A	7.37:g.115892027G>A	ENSP00000350937:p.Glu306Lys		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E306K	ENST00000358204.4	37	c.916	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.640668	0.96693	.	.	ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481	D;D;D	0.86366	-2.11;-2.11;-2.11	5.61	5.61	0.85477	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.92625	0.7657	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92691	0.6166	10	0.87932	D	0	-42.6413	20.0016	0.97412	0.0:0.0:1.0:0.0	.	306	Q9UGI8	TES_HUMAN	K	306;64;306;297	ENSP00000350937:E306K;ENSP00000441607:E64K;ENSP00000377121:E297K	ENSP00000257721:E306K	E	+	1	0	TES	115679263	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	GAG	TES	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.483	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	G	NM_015641		115892027	1	no_errors	ENST00000358204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	115892027	G	A	115892027	3	1	153	1	0	0	0	0	1	0	0	0	15795	1059	37	1	934	1	TES	7	115892027	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2373579	115892027	43246636	565	26539										
ST7	7982	genome.wustl.edu	37	chr7	116862962	116862962	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcagggactggaattgcaaGagtattttcatgcgtgttga	12	5	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:116862962G>A	ENST00000265437.5	+	16	1900	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	ST7_ENST00000393446.2_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000422922.1_Intron	NM_021908.2	NP_068708.1	Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGAATTGCAAGAGTATTTTCA	0.448																																																	0													148	143	145					7																	116862962		2203	4300	6503	SO:0001819	synonymous_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000265437.5:c.1686G>A	7.37:g.116862962G>A			A8K137|B4DRQ2	Silent	SNP	pfam_ST7	p.K562	ENST00000265437.5	37	c.1686	CCDS5770.1	7																																																																																			ST7	-	pfam_ST7		0.448	ST7-002	KNOWN	basic|CCDS	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000141622.1	G	NM_021908		116862962	1	no_errors	ENST00000265437	ensembl	human	known	70_37	silent	SNP	0.965	A	A	116862962	G	A	116862962	2	1	153	1	0	0	0	0	0	0	0	1	15259	933	33	1		1	ST7	7	116862962	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	970935	116862962	42275701	566	26540										
TSGA14	95681	genome.wustl.edu	37	chr7	130040635	130040635	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctttcatcatcgtcatacaGaatgatgatcttgccatggg	8	10	4	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:130040635G>C	ENST00000223208.5	-	9	940	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	CEP41_ENST00000343969.5_Missense_Mutation_p.L224V|CEP41_ENST00000541543.1_Missense_Mutation_p.L208V	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	224	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TCGTCATACAGAATGATGATC	0.502																																																	0													65	55	58					7																	130040635		2203	4300	6503	SO:0001583	missense	95681			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.670C>G	7.37:g.130040635G>C	ENSP00000223208:p.Leu224Val		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.L224V	ENST00000223208.5	37	c.670	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875240	0.33162	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389	T;T;T;T	0.38887	1.11;2.04;2.04;2.04	6.03	5.14	0.70334	Rhodanese-like (5);	0.158413	0.44902	D	0.000420	T	0.24122	0.0584	N	0.11000	0.08	0.46317	D	0.998985	B;B;B	0.33022	0.394;0.086;0.04	B;B;B	0.32465	0.146;0.079;0.078	T	0.08597	-1.0714	10	0.18276	T	0.48	-10.1059	13.1624	0.59552	0.0779:0.0:0.9221:0.0	.	208;224;224	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	V	224;208;224;189	ENSP00000223208:L224V;ENSP00000445888:L208V;ENSP00000342738:L224V;ENSP00000419192:L189V	ENSP00000223208:L224V	L	-	1	2	TSGA14	129827871	0.634000	0.27190	0.725000	0.30721	0.993000	0.82548	0.585000	0.23879	1.523000	0.49018	0.655000	0.94253	CTG	CEP41	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.502	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	G	NM_018718		130040635	-1	no_errors	ENST00000223208	ensembl	human	known	70_37	missense	SNP	0.958	C	C	130040635	G	C	130040635	3	2	153	1	0	0	0	0	1	0	0	0	16651	933	33	1	463	1	TSGA14	7	130040635	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	13177673	130040635	29098028	567	26541										
LRGUK	136332	genome.wustl.edu	37	chr7	133812377	133812377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagggcgagggcgaggcggGatccgaggagtcctcagagt	19	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:133812377G>A	ENST00000285928.2	+	1	326	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGAGGCGGGATCCGAGGAG	0.612																																																	0													88	84	85					7																	133812377		2203	4300	6503	SO:0001583	missense	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.257G>A	7.37:g.133812377G>A	ENSP00000285928:p.Gly86Glu		Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.G86E	ENST00000285928.2	37	c.257	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.423409	0.00186	.	.	ENSG00000155530	ENST00000285928	T	0.31247	1.5	3.95	0.325	0.15903	.	0.253298	0.28284	N	0.015904	T	0.04724	0.0128	N	0.00138	-2.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42949	-0.9421	10	0.02654	T	1	-12.889	7.0898	0.25277	0.7793:0.0:0.2207:0.0	.	86	Q96M69	LRGUK_HUMAN	E	86	ENSP00000285928:G86E	ENSP00000285928:G86E	G	+	2	0	LRGUK	133462917	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.113000	0.15499	0.046000	0.15833	-1.099000	0.02127	GGA	LRGUK	-	NULL		0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	G	NM_144648		133812377	1	no_errors	ENST00000285928	ensembl	human	known	70_37	missense	SNP	0.000	A	A	133812377	G	A	133812377	3	1	153	1	0	0	0	0	1	0	0	0	8966	1174	41	1	259	1	LRGUK	7	133812377	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3771742	133812377	25326286	568	26542										
AKR1B15	441282	genome.wustl.edu	37	chr7	134261723	134261723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctttctgcacaggttctgatCcgtttccatatccagaggaa	8	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:134261723C>T	ENST00000457545.2	+	10	1094	c.834C>T	c.(832-834)atC>atT	p.I278I	AKR1B15_ENST00000423958.1_Silent_p.I250I	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	278							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGGTTCTGATCCGTTTCCATA	0.478																																																	0													182	175	177					7																	134261723		2203	4300	6503	SO:0001819	synonymous_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.834C>T	7.37:g.134261723C>T			C9J3V2	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.I250	ENST00000457545.2	37	c.750	CCDS47715.2	7																																																																																			AKR1B15	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.478	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	AKR1B15	HGNC	protein_coding	OTTHUMT00000339726.2	C			134261723	1	no_errors	ENST00000423958	ensembl	human	known	70_37	silent	SNP	0.998	T	T	134261723	C	T	134261723	2	4	153	1	0	0	0	0	0	0	0	1	468	845	30	1		1	AKR1B15	7	134261723	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	449346	134261723	24876940	569	26543										
AKR1D1	6718	genome.wustl.edu	37	chr7	137773510	137773510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaagatatcttctactgtgGaaaggtgagatcttgccttc	11	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:137773510G>C	ENST00000242375.3	+	2	299	c.257G>C	c.(256-258)gGa>gCa	p.G86A	RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G86A|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.G86A	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	86					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTCTACTGTGGAAAGGTGAGA	0.468																																																	0													75	68	70					7																	137773510		2203	4300	6503	SO:0001583	missense	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.257G>C	7.37:g.137773510G>C	ENSP00000242375:p.Gly86Ala		A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G86A	ENST00000242375.3	37	c.257	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892947	0.33442	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.49432	0.78;0.78;0.78	5.2	1.3	0.21679	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	L	0.34521	1.04	0.42608	D	0.993309	D;D;D	0.89917	1.0;1.0;0.975	D;D;P	0.97110	1.0;1.0;0.663	T	0.51513	-0.8696	10	0.87932	D	0	.	9.6354	0.39804	0.0766:0.4042:0.5192:0.0	.	86;86;86	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	A	86	ENSP00000389197:G86A;ENSP00000402374:G86A;ENSP00000242375:G86A	ENSP00000242375:G86A	G	+	2	0	AKR1D1	137424050	1.000000	0.71417	0.094000	0.20943	0.108000	0.19459	8.472000	0.90407	0.056000	0.16144	-0.195000	0.12781	GGA	AKR1D1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.468	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	G	NM_005989		137773510	1	no_errors	ENST00000242375	ensembl	human	known	70_37	missense	SNP	0.673	C	C	137773510	G	C	137773510	3	2	153	1	0	0	0	0	1	0	0	0	473	1174	41	1	263	1	AKR1D1	7	137773510	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3511787	137773510	21365153	570	26544										
SVOPL	136306	genome.wustl.edu	37	chr7	138341201	138341201	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgttgccttacctgagacaAgggtaacatatagcctcggt	10	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:138341201A>G	ENST00000419765.3	-	6	559	c.526T>C	c.(526-528)Ttg>Ctg	p.L176L	SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000288513.5_Silent_p.L24L|SVOPL_ENST00000436657.1_Silent_p.L24L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	176						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ACCTGAGACAAGGGTAACATA	0.388																																																	0													149	134	139					7																	138341201		2203	4300	6503	SO:0001819	synonymous_variant	136306			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.526T>C	7.37:g.138341201A>G				Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L176	ENST00000419765.3	37	c.526	CCDS47721.1	7																																																																																			SVOPL	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	A	NM_174959		138341201	-1	no_errors	ENST00000419765	ensembl	human	known	70_37	silent	SNP	1.000	G	G	138341201	A	G	138341201	2	3	153	1	0	0	0	0	0	0	0	1	15454	69	3	5		5	SVOPL	7	138341201	Silent	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	567691	138341201	20797462	571	26545										
BRAF	673	genome.wustl.edu	37	chr7	140477862	140477862	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgtcacattcaacattttCactgccacatcacctaaaag	4	13	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:140477862C>T	ENST00000288602.6	-	12	1506	c.1446G>A	c.(1444-1446)gtG>gtA	p.V482V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCAACATTTTCACTGCCACAT	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													114	100	105					7																	140477862		2203	4300	6503	SO:0001819	synonymous_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1446G>A	7.37:g.140477862C>T			A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.V482	ENST00000288602.6	37	c.1446	CCDS5863.1	7																																																																																			BRAF	-	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,pfscan_Prot_kinase_cat_dom		0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	C	NM_004333		140477862	-1	no_errors	ENST00000288602	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140477862	C	T	140477862	2	4	153	1	0	0	0	0	0	0	0	1	1499	813	29	1		1	BRAF	7	140477862	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2136661	140477862	18660801	572	26546										
CASP2	835	genome.wustl.edu	37	chr7	142985551	142985552	+	Start_Codon_Ins	INS	-	-	GCGGC													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccgggaaaagcgggaaatgINSgcggcgccgagcgcggggtc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:142985551_142985552insGCGGC	ENST00000310447.5	+	0	244_245				AC073342.12_ENST00000427392.1_RNA|AC073342.12_ENST00000446192.1_RNA|CASP2_ENST00000392925.2_Start_Codon_Ins|RN7SL535P_ENST00000479087.2_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase						aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGCGGGAAATGGCGGCGCCGAG	0.668																																																	0																																										SO:0001582	initiator_codon_variant	835			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.4_8dupGCGGC	7.37:g.142985552_142985556dupGCGGC			A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Frame_Shift_Ins	INS	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.P3fs	ENST00000310447.5	37	c.3_4	CCDS5879.1	7																																																																																			CASP2	-	NULL		0.668	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	-	NM_032982		142985552	1	no_errors	ENST00000310447	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GCGGC	GCGGC	142985552	-	GCGGC	142985551	7	5	153	1	0	1	1	0	0	0	0	0	2676	1348	47	0	5	0	CASP2	7	142985551	Start_Codon_Ins	INS	-	TCGA-IR-A3LK-01A-12D-A20U-09	2507689	142985551	16153112	573	26547										
ZNF425	155054	genome.wustl.edu	37	chr7	148801459	148801459	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaaaaggtctttttgcactCgccgcagggaaactccttct	9	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:148801459C>G	ENST00000378061.2	-	4	1636	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	502					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTTTGCACTCGCCGCAGGGA	0.637																																																	0													52	42	45					7																	148801459		2203	4297	6500	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1504G>C	7.37:g.148801459C>G	ENSP00000367300:p.Glu502Gln		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E502Q	ENST00000378061.2	37	c.1504	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	4.773	0.143708	0.09134	.	.	ENSG00000204947	ENST00000378061	T	0.16196	2.36	2.74	0.742	0.18341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.39147	1.195	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.25676	-1.0125	9	0.33940	T	0.23	.	9.9195	0.41455	0.0:0.5987:0.4013:0.0	.	502	Q6IV72	ZN425_HUMAN	Q	502	ENSP00000367300:E502Q	ENSP00000367300:E502Q	E	-	1	0	ZNF425	148432392	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-1.119000	0.03276	0.039000	0.15632	0.655000	0.94253	GAG	ZNF425	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	C	XM_088140		148801459	-1	no_errors	ENST00000378061	ensembl	human	known	70_37	missense	SNP	0.017	G	G	148801459	C	G	148801459	3	3	153	1	0	0	0	0	1	0	0	0	17929	893	31	1	758	1	ZNF425	7	148801459	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5815908	148801459	10337204	574	26548										
SSPO	23145	genome.wustl.edu	37	chr7	149519678	149519678	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcagcagcgctaccgacacCagggcccggcgtcccgaggg	15	16	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:149519678C>T	ENST00000378016.2	+	0	13168							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTACCGACACCAGGGCCCGGC	0.692																																																	0													14	17	16					7																	149519678		1961	4129	6090			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519678C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149519678	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	T	T	149519678	C	T	149519678	1	4	153	0	1	0	0	0	0	0	0	0	15219	595	21	4		4	SSPO	7	149519678	RNA	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	718219	149519678	9618985	575	26549										
MLL3	58508	genome.wustl.edu	37	chr7	151945301	151945301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcaattgtaggagtcatttCagagtccatcaatccagtag	8	9	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:151945301C>T	ENST00000262189.6	-	14	2436	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	KMT2C_ENST00000355193.2_Missense_Mutation_p.E740K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	740					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGAGTCATTTCAGAGTCCATC	0.363																																																	0													76	74	75					7																	151945301		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2218G>A	7.37:g.151945301C>T	ENSP00000262189:p.Glu740Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E740K	ENST00000262189.6	37	c.2218	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898672	0.33535	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.83;-1.83	5.53	4.64	0.57946	.	0.135475	0.32655	N	0.005807	T	0.75824	0.3902	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.69202	-0.5207	10	0.23302	T	0.38	.	12.0675	0.53596	0.0:0.8635:0.0:0.1365	.	740	Q8NEZ4	MLL3_HUMAN	K	740	ENSP00000262189:E740K;ENSP00000347325:E740K	ENSP00000262189:E740K	E	-	1	0	MLL3	151576234	1.000000	0.71417	0.903000	0.35520	0.759000	0.43091	3.549000	0.53681	2.596000	0.87737	0.650000	0.86243	GAA	MLL3	-	NULL		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151945301	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.630	T	T	151945301	C	T	151945301	3	4	153	1	0	0	0	0	1	0	0	0	9645	835	29	1	12701	1	MLL3	7	151945301	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2425623	151945301	7193362	576	26550										
ZNF596	169270	genome.wustl.edu	37	chr8	192960	192960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgctggacacatcccagaGaaagctgtttcaagatgtga	10	10	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:192960G>A	ENST00000398612.1	+	3	469	c.86G>A	c.(85-87)aGa>aAa	p.R29K	ZNF596_ENST00000320552.2_Missense_Mutation_p.R29K|ZNF596_ENST00000308811.4_Missense_Mutation_p.R29K	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ACATCCCAGAGAAAGCTGTTT	0.398																																																	0													136	125	128					8																	192960		2203	4300	6503	SO:0001583	missense	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.86G>A	8.37:g.192960G>A	ENSP00000381613:p.Arg29Lys		B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R29K	ENST00000398612.1	37	c.86	CCDS5951.2	8	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.716601	0.00706	.	.	ENSG00000172748	ENST00000521145;ENST00000308811;ENST00000320552;ENST00000522866;ENST00000398612;ENST00000518414;ENST00000521270	T;T;T;T;T;T	0.01685	4.69;4.69;4.69;4.69;4.69;4.69	2.38	2.38	0.29361	Krueppel-associated box (4);	.	.	.	.	T	0.01254	0.0041	N	0.21583	0.68	0.19300	N	0.999978	P	0.42735	0.788	B	0.41202	0.35	T	0.19031	-1.0318	9	0.02654	T	1	.	5.0925	0.14715	0.1634:0.0:0.8366:0.0	.	29	Q8TC21	ZN596_HUMAN	K	29	ENSP00000429671:R29K;ENSP00000310033:R29K;ENSP00000318719:R29K;ENSP00000381613:R29K;ENSP00000430552:R29K;ENSP00000429386:R29K	ENSP00000310033:R29K	R	+	2	0	ZNF596	182960	0.368000	0.25031	0.558000	0.28319	0.239000	0.25481	0.330000	0.19715	1.669000	0.50854	0.585000	0.79938	AGA	ZNF596	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.398	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF596	HGNC	protein_coding	OTTHUMT00000195858.4	G	NM_173539		192960	1	no_errors	ENST00000308811	ensembl	human	known	70_37	missense	SNP	0.506	A	A	192960	G	A	192960	3	1	153	1	0	0	0	0	1	0	0	0	18056	942	33	1	92	1	ZNF596	8	192960	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		192960	146171062	577	26551										
CSMD1	64478	genome.wustl.edu	37	chr8	3141850	3141850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcgtgagccatctccgtgtcGaaaacaatgaaatggaggct	11	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:3141850G>T	ENST00000520002.1	-	27	4527	c.3972C>A	c.(3970-3972)ttC>ttA	p.F1324L	CSMD1_ENST00000602723.1_Missense_Mutation_p.F1324L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1324L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1324L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1323L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1323L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1323L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1324	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.F1052F(1)|p.F1323F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCCGTGTCGAAAACAATGA	0.552											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	large_intestine(2)											75	78	77					8																	3141850		2112	4227	6339	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3972C>A	8.37:g.3141850G>T	ENSP00000430733:p.Phe1324Leu	608	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F1324L	ENST00000520002.1	37	c.3972		8	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499629	0.64298	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.12	-8.22	0.01037	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.73962	2.25	0.50171	D	0.999859	D;P;D	0.76494	0.998;0.778;0.999	D;P;D	0.91635	0.994;0.613;0.999	T	0.57705	-0.7765	10	0.62326	D	0.03	.	12.689	0.56964	0.5819:0.0:0.4181:0.0	.	1324;1324;1324	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1324;1324;1186;1323;1323;1323	ENSP00000383047:F1324L;ENSP00000430733:F1324L;ENSP00000441462:F1323L;ENSP00000446243:F1323L;ENSP00000441675:F1323L	ENSP00000320445:F1186L	F	-	3	2	CSMD1	3129257	1.000000	0.71417	0.542000	0.28115	0.649000	0.38597	1.478000	0.35442	-1.529000	0.01754	-1.008000	0.02478	TTC	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3141850	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.934	T	T	3141850	G	T	3141850	3	4	153	1	0	0	0	0	1	0	0	0	3949	1049	37	3	6905	3	CSMD1	8	3141850	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2948890	3141850	143222172	578	26552										
AGPAT5	55326	genome.wustl.edu	37	chr8	6614722	6614722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgagtcaccagatccagaaaGaagaaaaagatttcctggga	10	7	1	6			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:6614722G>A	ENST00000285518.6	+	8	1220	c.908G>A	c.(907-909)aGa>aAa	p.R303K		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	303					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GATCCAGAAAGAAGAAAAAGA	0.323																																																	0													50	51	50					8																	6614722		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.908G>A	8.37:g.6614722G>A	ENSP00000285518:p.Arg303Lys		Q8IZ47|Q9BQG4	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R303K	ENST00000285518.6	37	c.908	CCDS34796.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.832576|2.832576	0.50845|0.50845	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000518327|ENST00000285518	.|T	.|0.63417	.|-0.04	6.04|6.04	5.16|5.16	0.70880|0.70880	.|.	.|0.131589	.|0.64402	.|D	.|0.000001	T|T	0.39655|0.39655	0.1086|0.1086	N|N	0.19112|0.19112	0.55|0.55	0.43164|0.43164	D|D	0.99495|0.99495	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.28618|0.28618	-1.0038|-1.0038	5|10	.|0.02654	.|T	.|1	-2.203|-2.203	9.7015|9.7015	0.40189|0.40189	0.1558:0.0:0.8442:0.0|0.1558:0.0:0.8442:0.0	.|.	.|303	.|Q9NUQ2	.|PLCE_HUMAN	K|K	120|303	.|ENSP00000285518:R303K	.|ENSP00000285518:R303K	E|R	+|+	1|2	0|0	AGPAT5|AGPAT5	6602130|6602130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.069000|5.069000	0.64370|0.64370	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAA|AGA	AGPAT5	-	NULL		0.323	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT5	HGNC	protein_coding	OTTHUMT00000374684.1	G	NM_018361		6614722	1	no_errors	ENST00000285518	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6614722	G	A	6614722	3	1	153	1	0	0	0	0	1	0	0	0	390	942	33	1	938	1	AGPAT5	8	6614722	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3472872	6614722	139749300	579	26553										
DEFB1	1672	genome.wustl.edu	37	chr8	6735347	6735347	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atctcagacaaaagtaagcaGagagtaaacagcagaaggta	10	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:6735347G>C	ENST00000297439.3	-	1	197	c.33C>G	c.(31-33)ctC>ctG	p.L11L		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	11					acute inflammatory response (GO:0002526)|antibacterial humoral response (GO:0019731)|chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|response to bacterium (GO:0009617)|response to testosterone (GO:0033574)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		AAAGTAAGCAGAGAGTAAACA	0.547																																					Pancreas(35;916 948 9612 33610 36642)												0													108	93	98					8																	6735347		2203	4300	6503	SO:0001819	synonymous_variant	1672			X92744	CCDS5959.1	8p23.1	2012-03-27			ENSG00000164825	ENSG00000164825		"Defensins, beta"	2766	protein-coding gene	gene with protein product		602056				7628632	Standard	NM_005218		Approved	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822	uc003wqs.2	P60022	OTTHUMG00000090367	ENST00000297439.3:c.33C>G	8.37:g.6735347G>C			Q09753	Silent	SNP	pfam_Defensin_beta-typ	p.L11	ENST00000297439.3	37	c.33	CCDS5959.1	8																																																																																			DEFB1	-	NULL		0.547	DEFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB1	HGNC	protein_coding	OTTHUMT00000251292.1	G	NM_005218		6735347	-1	no_errors	ENST00000297439	ensembl	human	known	70_37	silent	SNP	0.527	C	C	6735347	G	C	6735347	2	2	153	1	0	0	0	0	0	0	0	1	4399	929	33	1		1	DEFB1	8	6735347	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	120625	6735347	139628675	580	26554										
NAT2	10	genome.wustl.edu	37	chr8	18258175	18258175	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcttcatttataaccacatCattttgttccttgcagaccc	3	12	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:18258175C>T	ENST00000286479.3	+	2	769	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NAT2_ENST00000520116.1_Missense_Mutation_p.S91L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ATAACCACATCATTTTGTTCC	0.373									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													82	86	85					8																	18258175		2203	4300	6503	SO:0001583	missense	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.662C>T	8.37:g.18258175C>T	ENSP00000286479:p.Ser221Leu		O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.S221L	ENST00000286479.3	37	c.662	CCDS6008.1	8	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894550	0.33442	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01406	4.93;4.93	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	L	0.55743	1.74	0.31179	N	0.702326	D	0.89917	1.0	D	0.97110	1.0	T	0.02263	-1.1186	10	0.54805	T	0.06	.	8.9901	0.36019	0.0:1.0:0.0:0.0	.	221	A4Z6T7	.	L	221;91	ENSP00000286479:S221L;ENSP00000428416:S91L	ENSP00000286479:S221L	S	+	2	0	NAT2	18302455	1.000000	0.71417	0.022000	0.16811	0.104000	0.19210	6.172000	0.71932	1.792000	0.52537	0.436000	0.28706	TCA	NAT2	-	pfam_Arylamine_N-AcTrfase		0.373	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT2	HGNC	protein_coding	OTTHUMT00000253380.1	C	NM_000015		18258175	1	no_errors	ENST00000286479	ensembl	human	known	70_37	missense	SNP	0.495	T	T	18258175	C	T	18258175	3	4	153	1	0	0	0	0	1	0	0	0	10200	838	29	1	664	1	NAT2	8	18258175	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11522828	18258175	128105847	581	26555										
ADAM28	10863	genome.wustl.edu	37	chr8	24193049	24193049	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatctggtaattgtcctgatGatagattccaagtcaatggc	9	7	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:24193049G>C	ENST00000265769.4	+	14	1572	c.1462G>C	c.(1462-1464)Gat>Cat	p.D488H	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.D255H|ADAM28_ENST00000437154.2_Missense_Mutation_p.D488H|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.D235H	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	488	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTGTCCTGATGATAGATTCCA	0.502																																					NSCLC(193;488 2149 22258 34798 40734)												0													132	122	125					8																	24193049		2203	4300	6503	SO:0001583	missense	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1462G>C	8.37:g.24193049G>C	ENSP00000265769:p.Asp488His		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D488H	ENST00000265769.4	37	c.1462	CCDS34865.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.315156|2.315156	0.40996|0.40996	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154|ENST00000521629	T;T;T;T|.	0.14391|.	2.51;2.51;2.51;2.51|.	5.69|5.69	4.81|4.81	0.61882|0.61882	Blood coagulation inhibitor, Disintegrin (6);|.	.|.	.|.	.|.	.|.	D|.	0.87107|.	0.6095|.	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;0.999;1.0|.	D;D;D;D|.	0.77004|.	0.989;0.964;0.964;0.982|.	D|.	0.90577|.	0.4526|.	9|.	0.87932|.	D|.	0|.	.|.	12.7513|12.7513	0.57310|0.57310	0.0809:0.0:0.9191:0.0|0.0809:0.0:0.9191:0.0	.|.	255;488;488;488|.	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2|.	.;.;ADA28_HUMAN;.|.	H|S	488;235;255;488|120	ENSP00000265769:D488H;ENSP00000380770:D235H;ENSP00000443743:D255H;ENSP00000393699:D488H|.	ENSP00000265769:D488H|.	D|X	+|+	1|2	0|2	ADAM28|ADAM28	24248994|24248994	1.000000|1.000000	0.71417|0.71417	0.026000|0.026000	0.17262|0.17262	0.107000|0.107000	0.19398|0.19398	3.692000|3.692000	0.54727|0.54727	1.370000|1.370000	0.46153|0.46153	0.650000|0.650000	0.86243|0.86243	GAT|TGA	ADAM28	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin		0.502	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	G	NM_021778		24193049	1	no_errors	ENST00000265769	ensembl	human	known	70_37	missense	SNP	0.890	C	C	24193049	G	C	24193049	3	2	153	1	0	0	0	0	1	0	0	0	246	1290	45	1	1516	1	ADAM28	8	24193049	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5934874	24193049	122170973	582	26556										
STMN4	81551	genome.wustl.edu	37	chr8	27097546	27097546	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctccctgttctccttgttgGattccatcttctgggccagt	8	14	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:27097546G>C	ENST00000265770.7	-	5	588	c.452C>G	c.(451-453)tCc>tGc	p.S151C	STMN4_ENST00000350889.4_Missense_Mutation_p.S178C|STMN4_ENST00000519997.1_Missense_Mutation_p.S142C|STMN4_ENST00000519614.1_Missense_Mutation_p.S151C|STMN4_ENST00000522908.1_Missense_Mutation_p.S178C|STMN4_ENST00000523048.1_Missense_Mutation_p.S178C			Q9H169	STMN4_HUMAN	stathmin-like 4	151	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	CTCCTTGTTGGATTCCATCTT	0.522																																																	0													216	194	201					8																	27097546		2203	4300	6503	SO:0001583	missense	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.452C>G	8.37:g.27097546G>C	ENSP00000265770:p.Ser151Cys		B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.S178C	ENST00000265770.7	37	c.533		8	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550869	0.65311	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.6	5.6	0.85130	.	0.169435	0.52532	D	0.000070	T	0.51278	0.1665	N	0.19112	0.55	0.38014	D	0.934647	D;P;P;D;P;P	0.62365	0.986;0.873;0.951;0.991;0.485;0.951	P;P;B;P;B;B	0.58577	0.651;0.581;0.381;0.841;0.117;0.294	T	0.57568	-0.7789	9	0.54805	T	0.06	-0.7289	10.5399	0.45026	0.0878:0.0:0.9122:0.0	.	178;142;178;151;151;178	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	C	178;142;151;178;151;178	.	ENSP00000265770:S151C	S	-	2	0	STMN4	27153463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.768000	0.68858	2.645000	0.89757	0.655000	0.94253	TCC	STMN4	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam		0.522	STMN4-006	KNOWN	basic|appris_principal	protein_coding	STMN4	HGNC	protein_coding	OTTHUMT00000375941.1	G	NM_030795		27097546	-1	no_errors	ENST00000350889	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27097546	G	C	27097546	3	2	153	1	0	0	0	0	1	0	0	0	15341	1174	41	1	125	1	STMN4	8	27097546	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2904497	27097546	119266476	583	26557										
C8orf80	389643	genome.wustl.edu	37	chr8	27922101	27922101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctgggatgtccaccagcaCgaccccttctgggatcaggt	12	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:27922101C>T	ENST00000413272.2	-	7	1001	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	NUGGC_ENST00000341513.6_Missense_Mutation_p.V287M	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	287					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCCACCAGCACGACCCCTTCT	0.527																																																	0													78	81	80					8																	27922101		2062	4194	6256	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.859G>A	8.37:g.27922101C>T	ENSP00000408697:p.Val287Met		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.V287M	ENST00000413272.2	37	c.859	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811226	0.70797	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.97089	-4.24;-4.24	5.93	5.06	0.68205	Dynamin, GTPase domain (1);	0.000000	0.56097	D	0.000033	D	0.98210	0.9408	M	0.84326	2.69	0.32006	N	0.602681	D	0.89917	1.0	D	0.87578	0.998	D	0.98808	1.0742	10	0.87932	D	0	-15.8397	11.1222	0.48298	0.0:0.9154:0.0:0.0846	.	287	Q68CJ6	SLIP_HUMAN	M	287	ENSP00000408697:V287M;ENSP00000345031:V287M	ENSP00000345031:V287M	V	-	1	0	C8orf80	27978020	0.705000	0.27846	0.922000	0.36590	0.957000	0.61999	1.044000	0.30329	1.523000	0.49018	-0.145000	0.13849	GTG	NUGGC	-	pfam_Dynamin_GTPase		0.527	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27922101	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	0.966	T	T	27922101	C	T	27922101	3	4	153	1	0	0	0	0	1	0	0	0	2444	536	19	2	1583	2	C8orf80	8	27922101	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	824555	27922101	118441921	584	26558										
KCNU1	157855	genome.wustl.edu	37	chr8	36675259	36675259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtcaggagagatcaacactGaaattgttttcctgggagag	12	6	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:36675259G>C	ENST00000399881.3	+	10	1124	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	363	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATCAACACTGAAATTGTTTT	0.398																																																	0													147	134	138					8																	36675259		1869	4092	5961	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1087G>C	8.37:g.36675259G>C	ENSP00000382770:p.Glu363Gln			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.E363Q	ENST00000399881.3	37	c.1087	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874603	0.51695	.	.	ENSG00000215262	ENST00000399881	T	0.33216	1.42	5.31	4.43	0.53597	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.38111	U	0.001808	T	0.43255	0.1239	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.43426	-0.9392	10	0.87932	D	0	-6.516	13.6202	0.62132	0.0:0.1556:0.8443:0.0	.	363	A8MYU2	KCNU1_HUMAN	Q	363	ENSP00000382770:E363Q	ENSP00000382770:E363Q	E	+	1	0	KCNU1	36794417	1.000000	0.71417	0.076000	0.20297	0.364000	0.29643	8.055000	0.89453	1.345000	0.45676	0.655000	0.94253	GAA	KCNU1	-	prints_K_chnl_Ca-activ_BK_asu		0.398	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36675259	1	no_errors	ENST00000399881	ensembl	human	known	70_37	missense	SNP	0.988	C	C	36675259	G	C	36675259	3	2	153	1	0	0	0	0	1	0	0	0	8113	1291	45	1	1125	1	KCNU1	8	36675259	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8753158	36675259	109688763	585	26559										
POLB	5423	genome.wustl.edu	37	chr8	42227439	42227439	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatattttcaataagaatatGagggctcatgccctagaaaa	8	6	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:42227439G>A	ENST00000265421.4	+	13	1016	c.846G>A	c.(844-846)atG>atA	p.M282I	POLB_ENST00000538005.1_Missense_Mutation_p.M128I|POLB_ENST00000521492.1_Start_Codon_SNP_p.M1I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	282					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ATAAGAATATGAGGGCTCATG	0.398								DNA polymerases (catalytic subunits)																																									0													113	110	111					8																	42227439		2203	4300	6503	SO:0001583	missense	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.846G>A	8.37:g.42227439G>A	ENSP00000265421:p.Met282Ile		B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.M282I	ENST00000265421.4	37	c.846	CCDS6129.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.608637|4.608637	0.87258|0.87258	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000265421;ENST00000538005;ENST00000521492	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	4.95|4.95	4.95|4.95	0.65309|0.65309	.|DNA-directed DNA polymerase X (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59224|0.59224	0.2178|0.2178	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52061	.|0.913;0.95	.|P;P	.|0.54026	.|0.74;0.612	T|T	0.57551|0.57551	-0.7792|-0.7792	5|10	.|0.33141	.|T	.|0.24	-50.4895|-50.4895	16.0197|16.0197	0.80472|0.80472	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|282;282	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	K|I	184|282;128;1	.|ENSP00000265421:M282I;ENSP00000440497:M128I;ENSP00000430831:M1I	.|ENSP00000265421:M282I	E|M	+|+	1|3	0|0	POLB|POLB	42346596|42346596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.745000|9.745000	0.98856|0.98856	2.448000|2.448000	0.82819|0.82819	0.491000|0.491000	0.48974|0.48974	GAG|ATG	POLB	-	smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X		0.398	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	G	NM_002690		42227439	1	no_errors	ENST00000265421	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42227439	G	A	42227439	3	1	153	1	0	0	0	0	1	0	0	0	12213	1290	45	1	896	1	POLB	8	42227439	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5552180	42227439	104136583	586	26560										
CHRNB3	1142	genome.wustl.edu	37	chr8	42552739	42552739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgtccttggcatcccttcctCaggtaagcacaagtcacagt	8	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:42552739C>T	ENST00000289957.2	+	1	178	c.50C>T	c.(49-51)tCa>tTa	p.S17L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	17					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATCCCTTCCTCAGGTAAGCAC	0.378																																																	0													118	105	109					8																	42552739		2203	4300	6503	SO:0001583	missense	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.50C>T	8.37:g.42552739C>T	ENSP00000289957:p.Ser17Leu		Q15827	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S17L	ENST00000289957.2	37	c.50	CCDS6134.1	8	.	.	.	.	.	.	.	.	.	.	c	5.789	0.329954	0.10956	.	.	ENSG00000147432	ENST00000289957	T	0.75704	-0.96	5.53	5.53	0.82687	.	2.275330	0.01665	N	0.025310	T	0.66147	0.2760	N	0.19112	0.55	0.31789	N	0.629863	B	0.17038	0.02	B	0.11329	0.006	T	0.42682	-0.9437	10	0.11794	T	0.64	.	15.3121	0.74042	0.0:1.0:0.0:0.0	.	17	Q05901	ACHB3_HUMAN	L	17	ENSP00000289957:S17L	ENSP00000289957:S17L	S	+	2	0	CHRNB3	42671896	1.000000	0.71417	0.991000	0.47740	0.183000	0.23260	4.151000	0.58105	2.775000	0.95449	0.650000	0.86243	TCA	CHRNB3	-	NULL		0.378	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	C			42552739	1	no_errors	ENST00000289957	ensembl	human	known	70_37	missense	SNP	0.997	T	T	42552739	C	T	42552739	3	4	153	1	0	0	0	0	1	0	0	0	3397	838	29	1	52	1	CHRNB3	8	42552739	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	325300	42552739	103811283	587	26561										
PXDNL	137902	genome.wustl.edu	37	chr8	52325734	52325734	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaacaaatgtcttcgtgtgGagttaattgcactgtcaact	8	7	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:52325734G>C	ENST00000356297.4	-	15	1980	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	PXDNL_ENST00000543296.1_Missense_Mutation_p.S627C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	627					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S627C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTTCGTGTGGAGTTAATTGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											136	135	135					8																	52325734		1869	4121	5990	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1880C>G	8.37:g.52325734G>C	ENSP00000348645:p.Ser627Cys		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.S627C	ENST00000356297.4	37	c.1880	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241125	0.58995	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66638	-0.21;-0.22	4.94	3.12	0.35913	.	.	.	.	.	T	0.77294	0.4109	M	0.70595	2.14	0.29788	N	0.833457	D	0.76494	0.999	D	0.71184	0.972	T	0.70868	-0.4755	9	0.72032	D	0.01	.	7.6404	0.28290	0.0881:0.0:0.7484:0.1635	.	627	A1KZ92	PXDNL_HUMAN	C	627	ENSP00000348645:S627C;ENSP00000444865:S627C	ENSP00000348645:S627C	S	-	2	0	PXDNL	52488287	1.000000	0.71417	0.946000	0.38457	0.887000	0.51463	2.188000	0.42612	0.477000	0.27464	0.655000	0.94253	TCC	PXDNL	-	NULL		0.348	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	G	NM_144651		52325734	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52325734	G	C	52325734	3	2	153	1	0	0	0	0	1	0	0	0	12878	1174	41	1	2547	1	PXDNL	8	52325734	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	9772995	52325734	94038288	588	26562										
CYP7A1	1581	genome.wustl.edu	37	chr8	59404293	59404293	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tacaatagaaggtagtctttGtcttcccgttttcatcaaga	7	8	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:59404293G>C	ENST00000301645.3	-	6	1393	c.1256C>G	c.(1255-1257)aCa>aGa	p.T419R		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGTAGTCTTTGTCTTCCCGTT	0.343									Neonatal Giant Cell Hepatitis																																								0													103	113	109					8																	59404293		2203	4300	6503	SO:0001583	missense	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1256C>G	8.37:g.59404293G>C	ENSP00000301645:p.Thr419Arg		P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.T419R	ENST00000301645.3	37	c.1256	CCDS6171.1	8	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318407	0.40996	.	.	ENSG00000167910	ENST00000301645	T	0.61158	0.13	5.76	4.88	0.63580	.	0.298471	0.40469	N	0.001089	T	0.38321	0.1036	N	0.20357	0.565	0.31578	N	0.655457	B	0.30439	0.279	B	0.29862	0.108	T	0.43653	-0.9378	10	0.23891	T	0.37	-3.4054	8.2146	0.31503	0.0782:0.0:0.669:0.2528	.	419	P22680	CP7A1_HUMAN	R	419	ENSP00000301645:T419R	ENSP00000301645:T419R	T	-	2	0	CYP7A1	59566847	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	5.790000	0.69038	1.569000	0.49696	0.655000	0.94253	ACA	CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.343	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	G	NM_000780		59404293	-1	no_errors	ENST00000301645	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59404293	G	C	59404293	3	2	153	1	0	0	0	0	1	0	0	0	4201	1377	48	4	262	4	CYP7A1	8	59404293	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7078559	59404293	86959729	589	26563										
CA8	767	genome.wustl.edu	37	chr8	61192272	61192272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttgacttcaggataacctGaatggtatgtccatcattgg	9	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:61192272G>A	ENST00000317995.4	-	2	532	c.268C>T	c.(268-270)Cag>Tag	p.Q90*		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	90					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	AGGATAACCTGAATGGTATGT	0.418																																																	0													94	93	93					8																	61192272		2203	4300	6503	SO:0001587	stop_gained	767			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.268C>T	8.37:g.61192272G>A	ENSP00000314407:p.Gln90*		A8K0A5|B3KQZ7|Q32MY2	Nonsense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q90*	ENST00000317995.4	37	c.268	CCDS6174.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.824633	0.98510	.	.	ENSG00000178538	ENST00000317995	.	.	.	5.22	5.22	0.72569	.	0.054810	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8082	0.92047	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000314407:Q90X	Q	-	1	0	CA8	61354826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.512000	0.81728	2.442000	0.82660	0.557000	0.71058	CAG	CA8	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.418	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	HGNC	protein_coding	OTTHUMT00000383445.1	G			61192272	-1	no_errors	ENST00000317995	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	61192272	G	A	61192272	4	1	153	1	0	0	0	0	0	1	0	0	2528	1299	45	1	632	1	CA8	8	61192272	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1787979	61192272	85171750	590	26564										
ZFHX4	79776	genome.wustl.edu	37	chr8	77767198	77767198	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataaacggtgtccgttttgcCgagccctgtttaaagcaaag	10	9	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:77767198C>T	ENST00000521891.2	+	10	8489	c.8041C>T	c.(8041-8043)Cga>Tga	p.R2681*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.R2636*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.R2636*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.R2655*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCGTTTTGCCGAGCCCTGTT	0.557										HNSCC(33;0.089)																																							0													57	57	57					8																	77767198		1943	4140	6083	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8041C>T	8.37:g.77767198C>T	ENSP00000430497:p.Arg2681*		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R2681*	ENST00000521891.2	37	c.8041	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	48	14.560575	0.99801	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.18	2.01	0.26516	.	0.000000	0.37136	U	0.002231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5431	0.68011	0.6579:0.3421:0.0:0.0	.	.	.	.	X	2681;2665;2636;2636;2655	.	ENSP00000050961:R2636X	R	+	1	2	ZFHX4	77929753	1.000000	0.71417	0.998000	0.56505	0.224000	0.24922	1.463000	0.35277	0.166000	0.19597	-0.410000	0.06199	CGA	ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77767198	1	no_errors	ENST00000521891	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	77767198	C	T	77767198	4	4	153	1	0	0	0	0	0	1	0	0	17665	644	23	2	8075	2	ZFHX4	8	77767198	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	16574926	77767198	68596824	591	26565										
ZBTB10	65986	genome.wustl.edu	37	chr8	81399682	81399682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcagcaggcggtcgggcggcGatggcggggacgaagtggag	23	8	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:81399682G>C	ENST00000430430.1	+	2	1416	c.637G>C	c.(637-639)Gat>Cat	p.D213H	ZBTB10_ENST00000455036.3_Missense_Mutation_p.D213H|ZBTB10_ENST00000379091.4_Intron|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000426744.2_Missense_Mutation_p.D213H	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	213	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			gtcgggcggcgatggcgggga	0.706																																																	0													8	12	11					8																	81399682		1854	3820	5674	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.637G>C	8.37:g.81399682G>C	ENSP00000387462:p.Asp213His		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D213H	ENST00000430430.1	37	c.637	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787643	0.70337	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.12147	2.73;2.73;2.71	3.75	3.75	0.43078	.	0.399563	0.22586	N	0.058147	T	0.17704	0.0425	N	0.24115	0.695	0.43457	D	0.995653	D;D;D	0.61697	0.983;0.983;0.99	P;P;P	0.55615	0.608;0.608;0.78	T	0.02852	-1.1102	10	0.62326	D	0.03	.	13.0806	0.59112	0.0:0.0:1.0:0.0	.	69;213;213	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	H	213;213;213;41	ENSP00000387462:D213H;ENSP00000412036:D213H;ENSP00000416134:D213H	ENSP00000416134:D213H	D	+	1	0	ZBTB10	81562237	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.781000	0.68964	1.889000	0.54706	0.462000	0.41574	GAT	ZBTB10	-	NULL		0.706	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	G	NM_023929		81399682	1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81399682	G	C	81399682	3	2	153	1	0	0	0	0	1	0	0	0	17553	1058	37	1	639	1	ZBTB10	8	81399682	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3632484	81399682	64964340	592	26566										
ATP6V0D2	245972	genome.wustl.edu	37	chr8	87111214	87111214	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caatctcttcccccatgctcGaaggtgcggagctgtacttc	9	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:87111214G>C	ENST00000285393.3	+	1	149	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	3					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCCATGCTCGAAGGTGCGGA	0.552																																																	0													130	100	110					8																	87111214		2203	4300	6503	SO:0001583	missense	245972			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.7G>C	8.37:g.87111214G>C	ENSP00000285393:p.Glu3Gln			Missense_Mutation	SNP	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.E3Q	ENST00000285393.3	37	c.7	CCDS6241.1	8	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481752	0.44147	.	.	ENSG00000147614	ENST00000521564;ENST00000523635;ENST00000285393	T	0.30448	1.53	5.65	4.76	0.60689	.	0.619058	0.15864	N	0.240866	T	0.18882	0.0453	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.07271	-1.0781	10	0.38643	T	0.18	13.0168	11.0897	0.48108	0.0:0.2394:0.7606:0.0	.	3	Q8N8Y2	VA0D2_HUMAN	Q	3	ENSP00000285393:E3Q	ENSP00000285393:E3Q	E	+	1	0	ATP6V0D2	87180330	0.885000	0.30320	0.033000	0.17914	0.064000	0.16182	3.459000	0.53021	2.659000	0.90383	0.655000	0.94253	GAA	ATP6V0D2	-	pirsf_ATPase_V0-cplx_dsu		0.552	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D2	HGNC	protein_coding	OTTHUMT00000374651.1	G	NM_152565		87111214	1	no_errors	ENST00000285393	ensembl	human	known	70_37	missense	SNP	0.013	C	C	87111214	G	C	87111214	3	2	153	1	0	0	0	0	1	0	0	0	1175	1059	37	1	9	1	ATP6V0D2	8	87111214	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5711532	87111214	59252808	593	26567										
CNGB3	54714	genome.wustl.edu	37	chr8	87590944	87590944	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttgctctcgcttcaatttGagtagtcttgcaagacttgc	9	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:87590944G>A	ENST00000320005.5	-	17	2123	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	692					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTTCAATTTGAGTAGTCTTG	0.478																																																	0													175	163	167					8																	87590944		2203	4300	6503	SO:0001819	synonymous_variant	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2076C>T	8.37:g.87590944G>A			C9JA51|Q9NRE9	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L692	ENST00000320005.5	37	c.2076	CCDS6244.1	8																																																																																			CNGB3	-	NULL		0.478	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	G	NM_019098		87590944	-1	no_errors	ENST00000320005	ensembl	human	known	70_37	silent	SNP	0.216	A	A	87590944	G	A	87590944	2	1	153	1	0	0	0	0	0	0	0	1	3606	1277	45	1		1	CNGB3	8	87590944	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	479730	87590944	58773078	594	26568										
CALB1	793	genome.wustl.edu	37	chr8	91081237	91081237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgcttaccttaagctcctCagtttctatgaagccactgt	6	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:91081237C>T	ENST00000265431.3	-	5	542	c.361G>A	c.(361-363)Gag>Aag	p.E121K	CALB1_ENST00000518457.1_Missense_Mutation_p.E64K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	121	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)	p.E121Q(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTAAGCTCCTCAGTTTCTATG	0.313																																					Melanoma(46;573 1182 27367 39727 48386)												1	Substitution - Missense(1)	lung(1)											74	72	72					8																	91081237		2202	4300	6502	SO:0001583	missense	793				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.361G>A	8.37:g.91081237C>T	ENSP00000265431:p.Glu121Lys		B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E121K	ENST00000265431.3	37	c.361	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568252	0.45798	.	.	ENSG00000104327	ENST00000265431;ENST00000518457;ENST00000523716;ENST00000520613	T;T;T;T	0.73469	-0.49;-0.75;0.77;-0.31	5.66	5.66	0.87406	EF-hand-like domain (1);	0.064515	0.64402	D	0.000005	T	0.66277	0.2773	L	0.28608	0.87	0.58432	D	0.999995	P	0.38642	0.641	B	0.41723	0.365	T	0.62501	-0.6841	10	0.06236	T	0.91	-25.2678	19.76	0.96311	0.0:1.0:0.0:0.0	.	121	P05937	CALB1_HUMAN	K	121;64;64;64	ENSP00000265431:E121K;ENSP00000429602:E64K;ENSP00000429246:E64K;ENSP00000430281:E64K	ENSP00000265431:E121K	E	-	1	0	CALB1	91150413	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	5.205000	0.65186	2.666000	0.90696	0.655000	0.94253	GAG	CALB1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.313	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2	C	NM_004929		91081237	-1	no_errors	ENST00000265431	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91081237	C	T	91081237	3	4	153	1	0	0	0	0	1	0	0	0	2578	835	29	1	452	1	CALB1	8	91081237	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3490293	91081237	55282785	595	26569										
NECAB1	64168	genome.wustl.edu	37	chr8	91813934	91813934	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccagatactgaggagagcaGacaaaaatggtaagaccaaa	10	7	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:91813934G>C	ENST00000417640.2	+	2	452	c.115G>C	c.(115-117)Gac>Cac	p.D39H	NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAGGAGAGCAGACAAAAATGG	0.289																																																	0													22	22	22					8																	91813934		1724	3886	5610	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.115G>C	8.37:g.91813934G>C	ENSP00000387380:p.Asp39His		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D39H	ENST00000417640.2	37	c.115	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146279	0.77888	.	.	ENSG00000123119	ENST00000417640	D	0.97710	-4.5	5.38	5.38	0.77491	EF-hand-like domain (1);	.	.	.	.	D	0.98495	0.9498	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.98858	1.0761	9	0.87932	D	0	-0.8013	14.5095	0.67774	0.0:0.0:1.0:0.0	.	39	Q8N987	NECA1_HUMAN	H	39	ENSP00000387380:D39H	ENSP00000387380:D39H	D	+	1	0	NECAB1	91883110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	2.793000	0.96121	0.655000	0.94253	GAC	NECAB1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.289	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	G	NM_022351		91813934	1	no_errors	ENST00000417640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	91813934	G	C	91813934	3	2	153	1	0	0	0	0	1	0	0	0	10328	942	33	1	121	1	NECAB1	8	91813934	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	732697	91813934	54550088	596	26570										
RBM12B	389677	genome.wustl.edu	37	chr8	94746938	94746938	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcctgaagtcctccgggggGaacctaaagtcctctgagga	13	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:94746938G>A	ENST00000399300.2	-	3	1914	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.F567F|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	567							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCGGGGGGAACCTAAAGT	0.597																																																	0													69	70	70					8																	94746938		1852	4093	5945	SO:0001819	synonymous_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1701C>T	8.37:g.94746938G>A			A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F567	ENST00000399300.2	37	c.1701	CCDS43755.1	8																																																																																			RBM12B	-	NULL		0.597	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	G	NM_203390		94746938	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	silent	SNP	0.003	A	A	94746938	G	A	94746938	2	1	153	1	0	0	0	0	0	0	0	1	13144	1165	41	1		1	RBM12B	8	94746938	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2933004	94746938	51617084	597	26571										
GEM	2669	genome.wustl.edu	37	chr8	95272461	95272461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctgcaaagatgttggccaGagtggacttgcccaccccct	10	14	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:95272461G>C	ENST00000297596.2	-	2	535	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	GEM_ENST00000396194.2_Missense_Mutation_p.L91V	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	91					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.L91L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGTTGGCCAGAGTGGACTTG	0.597																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)												1	Substitution - coding silent(1)	lung(1)											101	95	97					8																	95272461		2203	4300	6503	SO:0001583	missense	2669				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.271C>G	8.37:g.95272461G>C	ENSP00000297596:p.Leu91Val		B2RA31	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L91V	ENST00000297596.2	37	c.271	CCDS6261.1	8	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236788	0.58886	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	D;D;T	0.87179	-2.22;-2.22;-1.11	5.29	4.41	0.53225	Small GTP-binding protein domain (1);	0.072303	0.64402	D	0.000019	D	0.88742	0.6519	M	0.88906	2.99	0.58432	D	0.999999	B	0.30146	0.27	B	0.35813	0.211	D	0.88174	0.2866	10	0.52906	T	0.07	.	9.1763	0.37114	0.0757:0.0:0.7774:0.1469	.	91	P55040	GEM_HUMAN	V	91	ENSP00000379497:L91V;ENSP00000297596:L91V;ENSP00000428258:L91V	ENSP00000297596:L91V	L	-	1	2	GEM	95341637	0.941000	0.31946	1.000000	0.80357	0.999000	0.98932	1.463000	0.35277	2.473000	0.83533	0.655000	0.94253	CTG	GEM	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.597	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEM	HGNC	protein_coding	OTTHUMT00000378566.1	G	NM_181702		95272461	-1	no_errors	ENST00000297596	ensembl	human	known	70_37	missense	SNP	0.999	C	C	95272461	G	C	95272461	3	2	153	1	0	0	0	0	1	0	0	0	6348	933	33	1	635	1	GEM	8	95272461	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	525523	95272461	51091561	598	26572										
KIAA1429	25962	genome.wustl.edu	37	chr8	95523629	95523629	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgatatcattctgaattttCtgttcatcactatccaaacg	4	9	5	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:95523629C>G	ENST00000297591.5	-	13	3249	c.3174G>C	c.(3172-3174)caG>caC	p.Q1058H	KIAA1429_ENST00000421249.2_Missense_Mutation_p.Q1058H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.Q1058H|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1058					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTGAATTTTCTGTTCATCAC	0.388																																																	0													45	46	46					8																	95523629		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3174G>C	8.37:g.95523629C>G	ENSP00000297591:p.Gln1058His		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1058H	ENST00000297591.5	37	c.3174	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201172	0.38905	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.66638	-0.22;-0.22;0.79	5.38	5.38	0.77491	.	0.121038	0.64402	D	0.000019	T	0.65565	0.2703	N	0.24115	0.695	0.41819	D	0.99001	D;D	0.59767	0.986;0.986	P;P	0.56865	0.808;0.808	T	0.68708	-0.5337	10	0.62326	D	0.03	-8.875	12.3891	0.55348	0.0:0.8784:0.0:0.1216	.	1058;1058	Q69YN4-4;Q69YN4	.;VIR_HUMAN	H	1058	ENSP00000297591:Q1058H;ENSP00000395600:Q1058H;ENSP00000398390:Q1058H	ENSP00000297591:Q1058H	Q	-	3	2	KIAA1429	95592805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.390000	0.34464	2.678000	0.91216	0.650000	0.86243	CAG	KIAA1429	-	NULL		0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	C	NM_015496		95523629	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95523629	C	G	95523629	3	3	153	1	0	0	0	0	1	0	0	0	8251	912	32	1	2366	1	KIAA1429	8	95523629	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	251168	95523629	50840393	599	26573										
PGCP	10404	genome.wustl.edu	37	chr8	98041688	98041688	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactgcagaagaacaaggtgGagttggtgccttccagtatt	13	7	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:98041688G>C	ENST00000220763.5	+	6	1229	c.1019G>C	c.(1018-1020)gGa>gCa	p.G340A		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	340					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GAACAAGGTGGAGTTGGTGCC	0.408																																																	0													80	76	77					8																	98041688		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1019G>C	8.37:g.98041688G>C	ENSP00000220763:p.Gly340Ala		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.G340A	ENST00000220763.5	37	c.1019	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426728	0.25726	.	.	ENSG00000104324	ENST00000220763	T	0.47177	0.85	5.64	4.75	0.60458	Peptidase M28 (1);	0.062777	0.64402	N	0.000006	T	0.39759	0.1090	L	0.41356	1.27	0.35387	D	0.790418	B	0.06786	0.001	B	0.16289	0.015	T	0.46148	-0.9212	10	0.44086	T	0.13	-21.249	12.4139	0.55481	0.0:0.169:0.831:0.0	.	340	Q9Y646	PGCP_HUMAN	A	340	ENSP00000220763:G340A	ENSP00000220763:G340A	G	+	2	0	AC010859.1	98110864	1.000000	0.71417	0.556000	0.28293	0.976000	0.68499	5.702000	0.68332	1.335000	0.45486	0.655000	0.94253	GGA	CPQ	-	pfam_Peptidase_M28,pfam_Peptidase_M20		0.408	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	G	NM_016134		98041688	1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	0.584	C	C	98041688	G	C	98041688	3	2	153	1	0	0	0	0	1	0	0	0	11810	1174	41	1	1037	1	PGCP	8	98041688	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2518059	98041688	48322334	600	26574										
VPS13B	157680	genome.wustl.edu	37	chr8	100147896	100147896	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accttacaaattcattgtttGattaccgaagcccagaaaat	5	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:100147896G>C	ENST00000358544.2	+	11	1609	c.1498G>C	c.(1498-1500)Gat>Cat	p.D500H	VPS13B_ENST00000395996.1_Missense_Mutation_p.D500H|VPS13B_ENST00000355155.1_Missense_Mutation_p.D500H|VPS13B_ENST00000357162.2_Missense_Mutation_p.D500H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	500					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCATTGTTTGATTACCGAAG	0.333																																					Colon(161;2205 2542 7338 31318)												0													128	114	119					8																	100147896		2202	4300	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1498G>C	8.37:g.100147896G>C	ENSP00000351346:p.Asp500His		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.D500H	ENST00000358544.2	37	c.1498	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294020	0.81025	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;D;D;T	0.86694	-2.16;-1.6;-1.6;-1.27	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.90553	0.7039	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	D	0.90860	0.4738	10	0.54805	T	0.06	.	19.4358	0.94794	0.0:0.0:1.0:0.0	.	500;500;500;500	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	H	500	ENSP00000347281:D500H;ENSP00000349685:D500H;ENSP00000351346:D500H;ENSP00000379318:D500H	ENSP00000347281:D500H	D	+	1	0	VPS13B	100217072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.111000	0.94308	2.663000	0.90544	0.655000	0.94253	GAT	VPS13B	-	NULL		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100147896	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100147896	G	C	100147896	3	2	153	1	0	0	0	0	1	0	0	0	17221	1290	45	1	1578	1	VPS13B	8	100147896	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2106208	100147896	46216126	601	26575										
GRHL2	79977	genome.wustl.edu	37	chr8	102678907	102678907	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagagcatggtggagggcttCaaggtcacgctcatggaaat	15	7	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:102678907C>A	ENST00000251808.3	+	16	2192	c.1854C>A	c.(1852-1854)ttC>ttA	p.F618L	GRHL2_ENST00000395927.1_Missense_Mutation_p.F602L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	618					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGAGGGCTTCAAGGTCACGC	0.552																																																	0													204	175	185					8																	102678907		2203	4300	6503	SO:0001583	missense	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1854C>A	8.37:g.102678907C>A	ENSP00000251808:p.Phe618Leu		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.F618L	ENST00000251808.3	37	c.1854	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209129	0.58343	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11495	2.77;2.77	5.57	5.57	0.84162	.	0.273076	0.42964	D	0.000639	T	0.09598	0.0236	N	0.16656	0.425	0.50632	D	0.999888	B	0.06786	0.001	B	0.08055	0.003	T	0.20140	-1.0284	10	0.44086	T	0.13	-24.2754	19.5348	0.95247	0.0:1.0:0.0:0.0	.	618	Q6ISB3	GRHL2_HUMAN	L	618;602;618	ENSP00000251808:F618L;ENSP00000379260:F602L	ENSP00000251808:F618L	F	+	3	2	GRHL2	102748083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.355000	0.52262	2.619000	0.88677	0.650000	0.86243	TTC	GRHL2	-	NULL		0.552	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	C	NM_024915		102678907	1	no_errors	ENST00000251808	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102678907	C	A	102678907	3	1	153	1	0	0	0	0	1	0	0	0	6784	825	29	3	1916	3	GRHL2	8	102678907	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2531011	102678907	43685115	602	26576										
UBR5	51366	genome.wustl.edu	37	chr8	103341421	103341421	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgctcgtggatgatgtaatGaaggattctttgaaagcata	11	4	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:103341421G>A	ENST00000520539.1	-	11	1829	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	UBR5_ENST00000521922.1_Missense_Mutation_p.S402L|UBR5_ENST00000220959.4_Missense_Mutation_p.S408L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	408					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGATGTAATGAAGGATTCTT	0.318																																					Ovarian(131;96 1741 5634 7352 27489)												0													166	169	168					8																	103341421		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1223C>T	8.37:g.103341421G>A	ENSP00000429084:p.Ser408Leu		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.S408L	ENST00000520539.1	37	c.1223	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	g	18.73	3.686094	0.68157	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.81499	-1.5;-1.5;-1.5	4.94	4.94	0.65067	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.071677	0.64402	D	0.000019	T	0.74496	0.3724	L	0.34521	1.04	0.58432	D	0.999997	B;B	0.20261	0.043;0.043	B;B	0.17433	0.018;0.018	T	0.71807	-0.4481	10	0.59425	D	0.04	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	402;408	E7EMW7;O95071	.;UBR5_HUMAN	L	408;408;402	ENSP00000429084:S408L;ENSP00000220959:S408L;ENSP00000427819:S402L	ENSP00000220959:S408L	S	-	2	0	UBR5	103410597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.303000	0.77524	0.586000	0.80456	TCA	UBR5	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103341421	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103341421	G	A	103341421	3	1	153	1	0	0	0	0	1	0	0	0	16936	1294	45	1	7372	1	UBR5	8	103341421	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	662514	103341421	43022601	603	26577										
ZFPM2	23414	genome.wustl.edu	37	chr8	106813964	106813964	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaagggggctacttgttttGagtgtaacataacattcaat	9	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:106813964G>C	ENST00000407775.2	+	8	1904	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E420Q|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E420Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E283Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	552					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACTTGTTTTGAGTGTAACAT	0.468																																																	0													83	87	86					8																	106813964		1925	4114	6039	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1654G>C	8.37:g.106813964G>C	ENSP00000384179:p.Glu552Gln		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E552Q	ENST00000407775.2	37	c.1654	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414946	0.83449	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52852	-0.8520	10	0.40728	T	0.16	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	552	Q8WW38	FOG2_HUMAN	Q	552;420;420;283	ENSP00000384179:E552Q;ENSP00000430757:E420Q;ENSP00000428720:E420Q;ENSP00000367733:E283Q	ENSP00000367733:E283Q	E	+	1	0	ZFPM2	106883140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAG	ZFPM2	-	smart_Znf_C2H2-like		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	G			106813964	1	no_errors	ENST00000407775	ensembl	human	known	70_37	missense	SNP	1.000	C	C	106813964	G	C	106813964	3	2	153	1	0	0	0	0	1	0	0	0	17688	1291	45	1	1684	1	ZFPM2	8	106813964	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3472543	106813964	39550058	604	26578										
SAMD12	401474	genome.wustl.edu	37	chr8	119391916	119391916	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cattcgctcgagctttttgtCagtaagtctcagcagggctc	10	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:119391916C>T	ENST00000314727.4	-	4	482	c.346G>A	c.(346-348)Gac>Aac	p.D116N	SAMD12_ENST00000527515.1_5'Flank|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Missense_Mutation_p.D116N	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	116	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGCTTTTTGTCAGTAAGTCTC	0.468																																																	0													104	96	99					8																	119391916		2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.346G>A	8.37:g.119391916C>T	ENSP00000314173:p.Asp116Asn		Q0P502	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D116N	ENST00000314727.4	37	c.346	CCDS6325.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.009670	0.97200	.	.	ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	6.17	6.17	0.99709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.051027	0.85682	D	0.000000	D	0.90297	0.6965	L	0.49513	1.565	0.80722	D	1	D;D	0.65815	0.995;0.987	D;P	0.64595	0.927;0.831	D	0.87660	0.2534	9	.	.	.	-16.5841	20.8794	0.99867	0.0:1.0:0.0:0.0	.	116;116	B8ZZB7;Q8N8I0	.;SAM12_HUMAN	N	116;108;116;116	ENSP00000387133:D116N;ENSP00000435927:D108N;ENSP00000314173:D116N;ENSP00000431360:D116N	.	D	-	1	0	SAMD12	119461097	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	5.745000	0.68672	2.941000	0.99782	0.655000	0.94253	GAC	SAMD12	-	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.468	SAMD12-001	KNOWN	basic|CCDS	protein_coding	SAMD12	HGNC	protein_coding	OTTHUMT00000132989.3	C	NM_207506		119391916	-1	no_errors	ENST00000314727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119391916	C	T	119391916	3	4	153	1	0	0	0	0	1	0	0	0	13847	826	29	1	290	1	SAMD12	8	119391916	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12577952	119391916	26972106	605	26579										
FAM91A1	157769	genome.wustl.edu	37	chr8	124797868	124797868	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttcctttatattcctttcaGaatgctgtttcaatgtattg	5	7	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:124797868G>A	ENST00000334705.7	+	11	1095		c.e11-1		FAM91A1_ENST00000521166.1_Splice_Site	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1											breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATTCCTTTCAGAATGCTGTTT	0.318																																																	0													76	69	72					8																	124797868		1815	4071	5886	SO:0001630	splice_region_variant	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.850-1G>A	8.37:g.124797868G>A			B6YY23|Q658T5|Q8TE89	Splice_Site	SNP	-	e11-1	ENST00000334705.7	37	c.850-1	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559930	0.86335	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.765	0.96335	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM91A1	124867049	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.757000	0.98924	2.748000	0.94277	0.552000	0.68991	.	FAM91A1	-	-		0.318	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	G	NM_144963	Intron	124797868	1	no_errors	ENST00000334705	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	124797868	G	A	124797868	5	1	153	1	0	0	0	0	0	0	1	0	5669	956	33	1	891	1	FAM91A1	8	124797868	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5405952	124797868	21566154	606	26580										
KIAA0196	9897	genome.wustl.edu	37	chr8	126085488	126085488	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatattgtccagaaccatctCctcccttaaataaccttctt	3	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:126085488C>A	ENST00000318410.7	-	9	1406	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.E205*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	353					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAACCATCTCCTCCCTTAAA	0.433																																																	0													135	113	121					8																	126085488		2203	4300	6503	SO:0001587	stop_gained	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1057G>T	8.37:g.126085488C>A	ENSP00000318016:p.Glu353*		A8K4R7|Q3KQX5|Q8TBQ2	Nonsense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E353*	ENST00000318410.7	37	c.1057	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	C	41	8.799516	0.98958	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-17.9752	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	353;205	.	ENSP00000318016:E353X	E	-	1	0	KIAA0196	126154670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.727000	0.84838	2.871000	0.98454	0.655000	0.94253	GAG	KIAA0196	-	pfam_WASH_strumpellin		0.433	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	C	NM_014846		126085488	-1	no_errors	ENST00000318410	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	126085488	C	A	126085488	4	1	153	1	0	0	0	0	0	1	0	0	8181	864	30	3	2506	3	KIAA0196	8	126085488	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1287620	126085488	20278534	607	26581										
FAM49B	51571	genome.wustl.edu	37	chr8	130864412	130864412	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctaggcaatgcttacctctGatacaaattttgttgtggca	8	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:130864412G>C	ENST00000519824.2	-	8	902	c.629C>G	c.(628-630)tCa>tGa	p.S210*	FAM49B_ENST00000523509.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000519540.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000519110.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000522250.1_Nonsense_Mutation_p.S64*|FAM49B_ENST00000401979.2_Nonsense_Mutation_p.S210*|FAM49B_ENST00000522746.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000517654.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000522941.1_Nonsense_Mutation_p.S64*	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	210						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCTTACCTCTGATACAAATTT	0.398																																																	0													146	121	129					8																	130864412		2203	4300	6503	SO:0001587	stop_gained	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.629C>G	8.37:g.130864412G>C	ENSP00000429150:p.Ser210*		Q96AZ5|Q9NW21|Q9NZE7	Nonsense_Mutation	SNP	pfam_DUF1394	p.S210*	ENST00000519824.2	37	c.629	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.768547	0.98480	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	.	.	.	5.98	5.98	0.97165	.	0.060484	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-18.3599	19.4463	0.94849	0.0:0.0:1.0:0.0	.	.	.	.	X	210;210;210;210;64;210;210;210;64;164	.	ENSP00000311651:S164X	S	-	2	0	FAM49B	130933594	1.000000	0.71417	0.984000	0.44739	0.725000	0.41563	7.863000	0.87023	2.835000	0.97688	0.650000	0.86243	TCA	FAM49B	-	pfam_DUF1394		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	G	NM_016623		130864412	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	nonsense	SNP	0.996	C	C	130864412	G	C	130864412	4	2	153	1	0	0	0	0	0	1	0	0	5594	1294	45	1	365	1	FAM49B	8	130864412	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4778924	130864412	15499610	608	26582										
ASAP1	50807	genome.wustl.edu	37	chr8	131249237	131249237	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggctgttctatcttggtctaGagcctaaaagagaaaaaagg	11	6	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:131249237G>A	ENST00000518721.1	-	4	417	c.190C>T	c.(190-192)Cta>Tta	p.L64L	ASAP1_ENST00000357668.1_Silent_p.L64L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	64					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTGGTCTAGAGCCTAAAAG	0.303																																																	0													50	48	49					8																	131249237		2203	4295	6498	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.190C>T	8.37:g.131249237G>A			B2RNV3	Silent	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L64	ENST00000518721.1	37	c.190	CCDS6362.1	8																																																																																			ASAP1	-	NULL		0.303	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	G	NM_018482		131249237	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131249237	G	A	131249237	2	1	153	1	0	0	0	0	0	0	0	1	1011	933	33	1		1	ASAP1	8	131249237	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	384825	131249237	15114785	609	26583										
BAI1	575	genome.wustl.edu	37	chr8	143559620	143559620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccagctgctcccagggccGacagcagcgcacgcgtgaat	13	16	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:143559620G>A	ENST00000517894.1	+	7	2354	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R487Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	487	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCAGGGCCGACAGCAGCGC	0.672																																																	0													19	25	23					8																	143559620		2057	4199	6256	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1460G>A	8.37:g.143559620G>A	ENSP00000430945:p.Arg487Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R487Q	ENST00000517894.1	37	c.1460		8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030219	0.93575	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.51325	0.71;0.71	4.54	3.63	0.41609	.	0.088844	0.48286	U	0.000183	T	0.31071	0.0785	N	0.11106	0.095	0.29346	N	0.865657	D	0.53885	0.963	P	0.46275	0.51	T	0.12477	-1.0546	10	0.35671	T	0.21	.	10.81	0.46540	0.0:0.4517:0.5483:0.0	.	487	E9PBK0	.	Q	487	ENSP00000430945:R487Q;ENSP00000313046:R487Q	ENSP00000313046:R487Q	R	+	2	0	BAI1	143556622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.432000	0.73400	2.031000	0.59945	0.455000	0.32223	CGA	BAI1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143559620	1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	143559620	G	A	143559620	3	1	153	1	0	0	0	0	1	0	0	0	1299	1058	37	1	1482	1	BAI1	8	143559620	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	12310383	143559620	2804402	610	26584										
LY6K	54742	genome.wustl.edu	37	chr8	143783124	143783124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagccatactgcgttatagcGgccgtgagtgagtatcttcg	13	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:143783124G>A	ENST00000292430.6	+	2	627	c.210G>A	c.(208-210)gcG>gcA	p.A70A	LY6K_ENST00000522591.1_Silent_p.A70A|LY6K_ENST00000518841.1_Silent_p.A70A|LY6K_ENST00000519387.1_Silent_p.A70A|LY6K_ENST00000561179.1_Silent_p.A128A|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	70	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCGTTATAGCGGCCGTGAGTG	0.493																																																	0													119	112	115					8																	143783124		2203	4300	6503	SO:0001819	synonymous_variant	54742			AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"cancer/testis antigen 97"	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.210G>A	8.37:g.143783124G>A			G3V116|O15227|Q9BVD7	Silent	SNP	NULL	p.A128	ENST00000292430.6	37	c.384	CCDS6385.2	8	.	.	.	.	.	.	.	.	.	.	G	3.460	-0.110191	0.06924	.	.	ENSG00000160886	ENST00000522591	.	.	.	2.07	-2.31	0.06765	.	.	.	.	.	T	0.21347	0.0514	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28267	-1.0049	4	.	.	.	.	4.0405	0.09750	0.0:0.1601:0.4875:0.3525	.	.	.	.	Q	89	.	.	R	+	2	0	LY6K	143780126	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.879000	0.04188	-0.558000	0.06118	-0.518000	0.04402	CGG	LY6K	-	NULL		0.493	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LY6K	HGNC	protein_coding	OTTHUMT00000379893.2	G	NM_017527		143783124	1	no_errors	ENST00000561179	ensembl	human	known	70_37	silent	SNP	0.000	A	A	143783124	G	A	143783124	2	1	153	1	0	0	0	0	0	0	0	1	9121	1103	39	2		2	LY6K	8	143783124	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	223504	143783124	2580898	611	26585										
GPIHBP1	338328	genome.wustl.edu	37	chr8	144295729	144295729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacagcaggaggaagaggaaGaggacgaggaccacgggcca	17	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144295729G>C	ENST00000330824.2	+	2	160	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	29	Poly-Glu.				cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ggaagaggaagaggacgagga	0.602																																																	0													144	92	110					8																	144295729		2181	4272	6453	SO:0001583	missense	338328			AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"endothelial cell LPL transporter"	612757	"GPI anchored high density lipoprotein binding protein 1"			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.85G>C	8.37:g.144295729G>C	ENSP00000329266:p.Glu29Gln		Q6P3T2|Q86W15	Missense_Mutation	SNP	pfam_LY6_UPAR	p.E29Q	ENST00000330824.2	37	c.85	CCDS34954.1	8	.	.	.	.	.	.	.	.	.	.	G	6.007	0.369762	0.11352	.	.	ENSG00000182851	ENST00000330824	T	0.79940	-1.32	2.92	2.92	0.33932	.	0.760060	0.10485	N	0.669121	T	0.70245	0.3202	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.50270	0.636	T	0.61133	-0.7124	10	0.54805	T	0.06	-6.3755	9.5335	0.39209	0.0:0.0:1.0:0.0	.	29	Q8IV16	HDBP1_HUMAN	Q	29	ENSP00000329266:E29Q	ENSP00000329266:E29Q	E	+	1	0	GPIHBP1	144367104	0.003000	0.15002	0.005000	0.12908	0.015000	0.08874	0.952000	0.29149	1.939000	0.56221	0.305000	0.20034	GAG	GPIHBP1	-	NULL		0.602	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPIHBP1	HGNC	protein_coding	OTTHUMT00000381113.1	G	NM_178172		144295729	1	no_errors	ENST00000330824	ensembl	human	known	70_37	missense	SNP	0.006	C	C	144295729	G	C	144295729	3	2	153	1	0	0	0	0	1	0	0	0	6631	943	33	1	91	1	GPIHBP1	8	144295729	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	512605	144295729	2068293	612	26586										
ZNF707	286075	genome.wustl.edu	37	chr8	144776075	144776075	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggcggcggccgggccgcaGagagcgccggaagcagcgcg	21	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144776075G>C	ENST00000532205.1	+	8	1390	c.491G>C	c.(490-492)aGa>aCa	p.R164T	ZNF707_ENST00000532158.1_Missense_Mutation_p.R164T|ZNF707_ENST00000358656.4_Missense_Mutation_p.R164T|ZNF707_ENST00000418203.2_Missense_Mutation_p.R164T|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Missense_Mutation_p.R164T			Q96C28	ZN707_HUMAN	zinc finger protein 707	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGGCCGCAGAGAGCGCCGG	0.682																																																	0													16	20	19					8																	144776075		2050	4177	6227	SO:0001583	missense	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.491G>C	8.37:g.144776075G>C	ENSP00000436212:p.Arg164Thr		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R164T	ENST00000532205.1	37	c.491	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	G	1.986	-0.432963	0.04669	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000526315;ENST00000532205;ENST00000418203	T;T;T;T;T;T	0.23552	3.49;3.49;3.49;1.9;3.49;3.49	1.93	-0.031	0.13911	.	.	.	.	.	T	0.15219	0.0367	L	0.33137	0.985	0.09310	N	1	B;B	0.20261	0.003;0.043	B;B	0.18263	0.0;0.021	T	0.30650	-0.9971	8	.	.	.	.	3.9755	0.09472	0.4455:0.0:0.5545:0.0	.	89;164	B4DV46;Q96C28	.;ZN707_HUMAN	T	164;164;164;128;164;164	ENSP00000409029:R164T;ENSP00000351482:R164T;ENSP00000436250:R164T;ENSP00000435906:R128T;ENSP00000436212:R164T;ENSP00000413215:R164T	.	R	+	2	0	ZNF707	144848063	0.700000	0.27796	0.000000	0.03702	0.030000	0.12068	1.962000	0.40442	-0.039000	0.13602	0.514000	0.50259	AGA	ZNF707	-	NULL		0.682	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	G	NM_173831		144776075	1	no_errors	ENST00000358656	ensembl	human	known	70_37	missense	SNP	0.000	C	C	144776075	G	C	144776075	3	2	153	1	0	0	0	0	1	0	0	0	18141	942	33	1	505	1	ZNF707	8	144776075	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	480346	144776075	1587947	613	26587										
ZNF707	286075	genome.wustl.edu	37	chr8	144776287	144776287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgagaagcccttctgctgcGaggcctgcgggcaggcgttc	16	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144776287G>A	ENST00000532205.1	+	8	1602	c.703G>A	c.(703-705)Gag>Aag	p.E235K	ZNF707_ENST00000532158.1_Missense_Mutation_p.E235K|ZNF707_ENST00000358656.4_Missense_Mutation_p.E235K|ZNF707_ENST00000418203.2_Missense_Mutation_p.E235K|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Missense_Mutation_p.E235K			Q96C28	ZN707_HUMAN	zinc finger protein 707	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTCTGCTGCGAGGCCTGCGG	0.662																																																	0													15	18	17					8																	144776287		2124	4229	6353	SO:0001583	missense	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.703G>A	8.37:g.144776287G>A	ENSP00000436212:p.Glu235Lys		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E235K	ENST00000532205.1	37	c.703	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	G	6.213	0.407429	0.11754	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	2.99	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	L	0.31804	0.96	0.09310	N	1	B;D	0.53745	0.167;0.962	B;P	0.45167	0.094;0.472	T	0.31503	-0.9941	8	.	.	.	-22.1218	2.5076	0.04649	0.1771:0.0:0.5284:0.2945	.	160;235	B4DV46;Q96C28	.;ZN707_HUMAN	K	235	ENSP00000409029:E235K;ENSP00000351482:E235K;ENSP00000436250:E235K;ENSP00000436212:E235K;ENSP00000413215:E235K	.	E	+	1	0	ZNF707	144848275	0.000000	0.05858	0.166000	0.22797	0.031000	0.12232	-1.703000	0.01900	1.478000	0.48253	0.563000	0.77884	GAG	ZNF707	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	G	NM_173831		144776287	1	no_errors	ENST00000358656	ensembl	human	known	70_37	missense	SNP	0.006	A	A	144776287	G	A	144776287	3	1	153	1	0	0	0	0	1	0	0	0	18141	1059	37	1	717	1	ZNF707	8	144776287	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	212	144776287	1587735	614	26588										
SCRIB	23513	genome.wustl.edu	37	chr8	144876128	144876128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccctccagctgctccagacGgtacctggaggagtaggcag	13	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144876128G>A	ENST00000320476.3	-	28	3857	c.3851C>T	c.(3850-3852)cCg>cTg	p.P1284L	SCRIB_ENST00000546337.1_5'UTR|SCRIB_ENST00000356994.2_Missense_Mutation_p.P1284L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P1203L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1284					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCTCCAGACGGTACCTGGAG	0.647																																					Pancreas(51;966 1133 10533 14576 29674)												0													76	61	66					8																	144876128		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3851C>T	8.37:g.144876128G>A	ENSP00000322938:p.Pro1284Leu		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.P1284L	ENST00000320476.3	37	c.3851	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558697	0.27827	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.36340	1.48;1.45;1.26	3.83	1.01	0.19927	.	.	.	.	.	T	0.29684	0.0741	L	0.53249	1.67	0.09310	N	0.999998	B;B	0.13145	0.004;0.007	B;B	0.12156	0.003;0.007	T	0.25537	-1.0129	9	0.28530	T	0.3	.	6.8379	0.23947	0.3289:0.0:0.6711:0.0	.	1284;1284	Q14160;Q14160-3	SCRIB_HUMAN;.	L	1284;1284;1203;653	ENSP00000349486:P1284L;ENSP00000322938:P1284L;ENSP00000366756:P1203L	ENSP00000322938:P1284L	P	-	2	0	SCRIB	144948116	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	-0.107000	0.10873	0.006000	0.14734	0.305000	0.20034	CCG	SCRIB	-	NULL		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144876128	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	0.003	A	A	144876128	G	A	144876128	3	1	153	1	0	0	0	0	1	0	0	0	13967	1116	39	2	1156	2	SCRIB	8	144876128	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	99841	144876128	1487894	615	26589										
EPPK1	83481	genome.wustl.edu	37	chr8	144941887	144941887	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctctgatggccgccactttGatgccttggttttgcgtctc	10	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144941887G>A	ENST00000525985.1	-	2	5606	c.5535C>T	c.(5533-5535)atC>atT	p.I1845I				P58107	EPIPL_HUMAN	epiplakin 1	1845						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCACTTTGATGCCTTGGT	0.542																																																	0													213	218	216					8																	144941887		2098	4231	6329	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5535C>T	8.37:g.144941887G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.I1845	ENST00000525985.1	37	c.5535		8																																																																																			EPPK1	-	NULL		0.542	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144941887	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.080	A	A	144941887	G	A	144941887	2	1	153	1	0	0	0	0	0	0	0	1	5202	1280	45	1		1	EPPK1	8	144941887	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	65759	144941887	1422135	616	26590			2	114		4	4	1640	G		6.808755e-05
EPPK1	83481	genome.wustl.edu	37	chr8	144942235	144942235	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctcgtgcgtgttggggtcGaagaagcccttggtgtcgtc	15	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144942235G>A	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	1729						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622																																																	0													97	103	101					8																	144942235		2091	4192	6283	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5187C>T	8.37:g.144942235G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.F1729	ENST00000525985.1	37	c.5187		8																																																																																			EPPK1	-	smart_Plectin_repeat		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144942235	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.989	A	A	144942235	G	A	144942235	2	1	153	1	0	0	0	0	0	0	0	1	5202	1049	37	1		1	EPPK1	8	144942235	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	348	144942235	1421787	617	26591			2	114		4	4	1640	G		6.808755e-05
EPPK1	83481	genome.wustl.edu	37	chr8	144942955	144942955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcagccctcccagaccgacaGagtgccaccagctcccgccg	10	20	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144942955G>A	ENST00000525985.1	-	2	4538	c.4467C>T	c.(4465-4467)ctC>ctT	p.L1489L				P58107	EPIPL_HUMAN	epiplakin 1	1489						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGACCGACAGAGTGCCACCA	0.662																																																	0													21	25	24					8																	144942955		2176	4272	6448	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4467C>T	8.37:g.144942955G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1489	ENST00000525985.1	37	c.4467		8																																																																																			EPPK1	-	NULL		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144942955	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.000	A	A	144942955	G	A	144942955	2	1	153	1	0	0	0	0	0	0	0	1	5202	929	33	1		1	EPPK1	8	144942955	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	720	144942955	1421067	618	26592			2	114		4	4	1640	G		6.808755e-05
EPPK1	83481	genome.wustl.edu	37	chr8	144943526	144943526	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccttaaccgcgtcctccactGacagtctctggttgttcagg	9	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144943526G>A	ENST00000525985.1	-	2	3967	c.3896C>T	c.(3895-3897)tCa>tTa	p.S1299L				P58107	EPIPL_HUMAN	epiplakin 1	1299						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCTCCACTGACAGTCTCTG	0.662																																																	0													50	57	54					8																	144943526		2008	4144	6152	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3896C>T	8.37:g.144943526G>A	ENSP00000436337:p.Ser1299Leu		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.S1299L	ENST00000525985.1	37	c.3896		8	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127331	0.37533	.	.	ENSG00000227184	ENST00000525985	T	0.80480	-1.38	4.51	4.51	0.55191	.	.	.	.	.	D	0.89139	0.6630	M	0.84773	2.715	0.09310	N	1	D	0.58268	0.982	P	0.59825	0.864	T	0.82250	-0.0550	9	0.72032	D	0.01	.	14.7468	0.69494	0.0:0.0:1.0:0.0	.	1299	E9PPU0	.	L	1299	ENSP00000436337:S1299L	ENSP00000436337:S1299L	S	-	2	0	EPPK1	145015514	0.003000	0.15002	0.018000	0.16275	0.040000	0.13550	1.258000	0.32944	2.331000	0.79229	0.462000	0.41574	TCA	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144943526	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.147	A	A	144943526	G	A	144943526	3	1	153	1	0	0	0	0	1	0	0	0	5202	1294	45	1	3370	1	EPPK1	8	144943526	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	571	144943526	1420496	619	26593			2	114		4	4	1640	G		6.808755e-05
PLEC	5339	genome.wustl.edu	37	chr8	144992701	144992701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggtgaccgcccgctcagccGagagcaggcggtcgtgcagc	16	15	1	2	rs377598440		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144992701G>A	ENST00000322810.4	-	32	11868	c.11699C>T	c.(11698-11700)tCg>tTg	p.S3900L	PLEC_ENST00000436759.2_Missense_Mutation_p.S3790L|PLEC_ENST00000354589.3_Missense_Mutation_p.S3763L|PLEC_ENST00000345136.3_Missense_Mutation_p.S3763L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3749L|PLEC_ENST00000357649.2_Missense_Mutation_p.S3767L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3741L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3731L|PLEC_ENST00000527096.1_Missense_Mutation_p.S3786L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3900	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCTCAGCCGAGAGCAGGCG	0.667																																																	0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,3900		0,0,1950	8	11	10		11369,11246,11222,11699,11192,11288,11300,11288	3.3	0.5	8		10	2,8114		0,2,4056	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	145,145,145,145,145,145,145,145	0,2,6006	AA,AG,GG		0.0246,0.0,0.0166	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	3790/4575,3749/4534,3741/4526,3900/4685,3731/4516,3763/4548,3767/4552,3763/4548	144992701	2,12014	1950	4058	6008	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11699C>T	8.37:g.144992701G>A	ENSP00000323856:p.Ser3900Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S3900L	ENST00000322810.4	37	c.11699	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537489	0.13188	0.0	2.46E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	4.22	3.31	0.37934	.	0.000000	0.56097	U	0.000034	T	0.67211	0.2869	M	0.66439	2.03	0.51233	D	0.999911	P;P;P;P;P;P;P;P	0.39071	0.606;0.606;0.606;0.658;0.606;0.606;0.606;0.606	B;B;B;B;B;B;B;B	0.31245	0.077;0.077;0.077;0.126;0.077;0.077;0.077;0.077	T	0.73056	-0.4103	10	0.54805	T	0.06	.	11.4828	0.50335	0.0942:0.0:0.9058:0.0	.	3790;3749;3741;3900;3731;3763;3767;3763	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	3763;3767;3763;3731;3900;3741;3749;3790;3786	ENSP00000344848:S3763L;ENSP00000350277:S3767L;ENSP00000346602:S3763L;ENSP00000381756:S3731L;ENSP00000323856:S3900L;ENSP00000347044:S3741L;ENSP00000348702:S3749L;ENSP00000388180:S3790L;ENSP00000434583:S3786L	ENSP00000323856:S3900L	S	-	2	0	PLEC	145064689	1.000000	0.71417	0.470000	0.27216	0.007000	0.05969	5.507000	0.66999	2.174000	0.68829	0.453000	0.30009	TCG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		144992701	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.878	A	A	144992701	G	A	144992701	3	1	153	1	0	0	0	0	1	0	0	0	12076	1059	37	1	2359	1	PLEC	8	144992701	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	49175	144992701	1371321	620	26594										
PARP10	84875	genome.wustl.edu	37	chr8	145051698	145051698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcccagaggggtcgtcggggGaagcgcggggcacgtgctcg	21	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145051698G>A	ENST00000313028.7	-	11	3126	c.3032C>T	c.(3031-3033)tCc>tTc	p.S1011F	PARP10_ENST00000524918.1_Missense_Mutation_p.S1002F|PLEC_ENST00000436759.2_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.S1023F|PLEC_ENST00000527096.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	1011	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGTCGGGGGAAGCGCGGGG	0.692											OREG0019051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22	20	20					8																	145051698		2145	4241	6386	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.3032C>T	8.37:g.145051698G>A	ENSP00000325618:p.Ser1011Phe	1691	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1011F	ENST00000313028.7	37	c.3032	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	g	19.32	3.805829	0.70682	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.10960	2.82;2.82;2.82	4.66	3.78	0.43462	Poly(ADP-ribose) polymerase, catalytic domain (1);	1.578340	0.03807	N	0.265371	T	0.16171	0.0389	L	0.53249	1.67	0.09310	N	0.999998	P;P	0.40476	0.718;0.718	B;B	0.40009	0.316;0.316	T	0.28933	-1.0028	10	0.54805	T	0.06	.	9.1747	0.37105	0.1041:0.0:0.8959:0.0	.	1023;1011	E9PNI7;Q53GL7	.;PAR10_HUMAN	F	1002;717;1011;1023	ENSP00000431620:S1002F;ENSP00000325618:S1011F;ENSP00000434776:S1023F	ENSP00000325618:S1011F	S	-	2	0	PARP10	145123686	0.003000	0.15002	0.102000	0.21198	0.253000	0.25986	-0.232000	0.09055	1.086000	0.41228	0.558000	0.71614	TCC	PARP10	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.692	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	G	NM_032789		145051698	-1	no_errors	ENST00000313028	ensembl	human	known	70_37	missense	SNP	0.295	A	A	145051698	G	A	145051698	3	1	153	1	0	0	0	0	1	0	0	0	11479	1174	41	1	49	1	PARP10	8	145051698	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	58997	145051698	1312324	621	26595										
MAF1	84232	genome.wustl.edu	37	chr8	145160643	145160643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aactcacagctgactgtggaGactggagatgcccacatcat	10	11	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145160643G>A	ENST00000322428.5	+	2	461	c.57G>A	c.(55-57)gaG>gaA	p.E19E	SHARPIN_ENST00000533948.1_5'Flank|KIAA1875_ENST00000323662.8_5'Flank|MAF1_ENST00000532522.1_Silent_p.E19E|SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000534585.1_Silent_p.E19E	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	19					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACTGTGGAGACTGGAGATG	0.582																																																	0													80	74	76					8																	145160643		2203	4300	6503	SO:0001819	synonymous_variant	84232				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.57G>A	8.37:g.145160643G>A			D3DWL4	Silent	SNP	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1	p.E19	ENST00000322428.5	37	c.57	CCDS6416.1	8																																																																																			MAF1	-	pirsf_RNA_pol_III_tscrpt_repres_MAF1		0.582	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	G	NM_032272		145160643	1	no_errors	ENST00000322428	ensembl	human	known	70_37	silent	SNP	1.000	A	A	145160643	G	A	145160643	2	1	153	1	0	0	0	0	0	0	0	1	9179	933	33	1		1	MAF1	8	145160643	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	108945	145160643	1203379	622	26596										
MAF1	84232	genome.wustl.edu	37	chr8	145160803	145160803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actcatgtaagatggcaggaGacgacaaacacatgttcaag	10	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145160803G>A	ENST00000322428.5	+	3	519	c.115G>A	c.(115-117)Gac>Aac	p.D39N	SHARPIN_ENST00000533948.1_5'Flank|KIAA1875_ENST00000323662.8_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.D39N|SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000534585.1_Missense_Mutation_p.D39N	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	39					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGGCAGGAGACGACAAACA	0.567																																																	0													92	88	89					8																	145160803		2203	4300	6503	SO:0001583	missense	84232				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.115G>A	8.37:g.145160803G>A	ENSP00000318604:p.Asp39Asn		D3DWL4	Missense_Mutation	SNP	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1	p.D39N	ENST00000322428.5	37	c.115	CCDS6416.1	8	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572042	0.45798	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	T;T;T	0.42513	0.97;1.01;0.97	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	N	0.04043	-0.29	0.58432	D	0.99999	B	0.15930	0.015	B	0.17979	0.02	T	0.12528	-1.0544	10	0.13853	T	0.58	-28.4147	15.0028	0.71486	0.0:0.0:1.0:0.0	.	39	Q9H063	MAF1_HUMAN	N	39	ENSP00000318604:D39N;ENSP00000433979:D39N;ENSP00000436720:D39N	ENSP00000318604:D39N	D	+	1	0	MAF1	145232791	1.000000	0.71417	0.123000	0.21794	0.943000	0.58893	6.940000	0.75917	2.624000	0.88883	0.462000	0.41574	GAC	MAF1	-	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1		0.567	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	G	NM_032272		145160803	1	no_errors	ENST00000322428	ensembl	human	known	70_37	missense	SNP	0.914	A	A	145160803	G	A	145160803	3	1	153	1	0	0	0	0	1	0	0	0	9179	942	33	1	121	1	MAF1	8	145160803	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	160	145160803	1203219	623	26597										
PPP1R16A	84988	genome.wustl.edu	37	chr8	145727029	145727029	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccccctggacagcaccaccCcccacaccctggtccacgac	7	23	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145727029C>G	ENST00000292539.4	+	11	2247	c.1330C>G	c.(1330-1332)Ccc>Gcc	p.P444A	GPT_ENST00000528431.1_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.P444A|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000394955.2_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	444						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCACCACCCCCCACACCCT	0.667																																																	0													58	45	49					8																	145727029		2198	4297	6495	SO:0001583	missense	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1330C>G	8.37:g.145727029C>G	ENSP00000292539:p.Pro444Ala		D3DWM5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P444A	ENST00000292539.4	37	c.1330	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183606	0.06340	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.69685	-0.42;-0.42	4.34	3.45	0.39498	.	0.225716	0.36167	N	0.002744	T	0.52224	0.1721	L	0.34521	1.04	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.21540	T	0.41	.	11.7291	0.51726	0.0:0.806:0.194:0.0	.	444	Q96I34	PP16A_HUMAN	A	444	ENSP00000292539:P444A;ENSP00000391126:P444A	ENSP00000292539:P444A	P	+	1	0	PPP1R16A	145697837	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.194000	0.17135	0.773000	0.33404	0.462000	0.41574	CCC	PPP1R16A	-	pirsf_Pase-1_reg_su_16AB_euk		0.667	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	HGNC	protein_coding	OTTHUMT00000382459.1	C	NM_032902		145727029	1	no_errors	ENST00000292539	ensembl	human	known	70_37	missense	SNP	0.044	G	G	145727029	C	G	145727029	3	3	153	1	0	0	0	0	1	0	0	0	12392	623	22	4	1368	4	PPP1R16A	8	145727029	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	566226	145727029	636993	624	26598										
ZNF7	7553	genome.wustl.edu	37	chr8	146067954	146067954	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctcacaccttattcagcatCagcgaatccacactggagag	8	13	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:146067954C>T	ENST00000528372.1	+	5	1702	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	ZNF7_ENST00000325241.6_Nonsense_Mutation_p.Q488*|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.Q499*|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.Q392*|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	488					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TATTCAGCATCAGCGAATCCA	0.443																																																	0													83	74	77					8																	146067954		2203	4300	6503	SO:0001587	stop_gained	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1462C>T	8.37:g.146067954C>T	ENSP00000432724:p.Gln488*		B4DT08|D3DWN6|P17015|Q8N8Y4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q488*	ENST00000528372.1	37	c.1462	CCDS6435.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.324003	0.97476	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	.	.	.	4.93	4.93	0.64822	.	0.000000	0.44483	D	0.000446	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.9481	17.069	0.86568	0.0:1.0:0.0:0.0	.	.	.	.	X	488;499;392;488	.	.	Q	+	1	0	ZNF7	146038758	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.942000	0.29017	2.565000	0.86533	0.655000	0.94253	CAG	ZNF7	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	C	NM_003416		146067954	1	no_errors	ENST00000325241	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	146067954	C	T	146067954	4	4	153	1	0	0	0	0	0	1	0	0	18132	827	29	1	1476	1	ZNF7	8	146067954	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	340925	146067954	296068	625	26599										
ZNF16	7564	genome.wustl.edu	37	chr8	146157398	146157398	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtaagctttctcactcatatGagatcgatgacggtttttaa	8	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:146157398G>A	ENST00000276816.4	-	4	961	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ZNF16_ENST00000394909.2_Missense_Mutation_p.H259Y	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	259					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCACTCATATGAGATCGATGA	0.488																																																	0													134	137	136					8																	146157398		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.775C>T	8.37:g.146157398G>A	ENSP00000276816:p.His259Tyr		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H259Y	ENST00000276816.4	37	c.775	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635915	0.29068	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.26518	1.73;1.73	3.78	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40067	0.1102	M	0.93375	3.41	0.09310	N	1	B	0.23937	0.094	B	0.30105	0.111	T	0.45614	-0.9249	9	0.87932	D	0	.	6.7775	0.23628	0.0983:0.0:0.7256:0.1761	.	259	P17020	ZNF16_HUMAN	Y	259	ENSP00000276816:H259Y;ENSP00000378369:H259Y	ENSP00000276816:H259Y	H	-	1	0	ZNF16	146128202	0.749000	0.28305	0.004000	0.12327	0.004000	0.04260	3.470000	0.53100	0.270000	0.21984	-0.261000	0.10672	CAT	ZNF16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146157398	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	missense	SNP	0.030	A	A	146157398	G	A	146157398	3	1	153	1	0	0	0	0	1	0	0	0	17768	1290	45	1	1277	1	ZNF16	8	146157398	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	89444	146157398	206624	626	26600										
RLN2	6019	genome.wustl.edu	37	chr9	5300256	5300256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcttcactttgtctattgcGaataagtttcttaaattctt	6	7	4	0	rs372954927		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:5300256G>A	ENST00000381627.3	-	2	788	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	134					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGTCTATTGCGAATAAGTTTC	0.388																																																	0								G	CYS/ARG,	0,4406		0,0,2203	115	115	115		400,	0.4	0	9		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	RLN2	NM_134441.1,NM_005059.2	180,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	134/186,	5300256	1,13005	2203	4300	6503	SO:0001583	missense	6019				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.400C>T	9.37:g.5300256G>A	ENSP00000371040:p.Arg134Cys		A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.R134C	ENST00000381627.3	37	c.400	CCDS6460.1	9	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174366	0.38413	0.0	1.16E-4	ENSG00000107014	ENST00000381627	T	0.54675	0.56	3.48	0.411	0.16392	Insulin-like (3);	2.655290	0.01325	N	0.011073	T	0.59649	0.2209	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	P	0.57244	0.816	T	0.36792	-0.9733	10	0.48119	T	0.1	.	3.656	0.08221	0.2522:0.2728:0.475:0.0	.	134	P04090	REL2_HUMAN	C	134	ENSP00000371040:R134C	ENSP00000371040:R134C	R	-	1	0	RLN2	5290256	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.012000	0.13287	0.081000	0.16988	0.650000	0.86243	CGC	RLN2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.388	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	HGNC	protein_coding	OTTHUMT00000051619.1	G	NM_134441		5300256	-1	no_errors	ENST00000381627	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5300256	G	A	5300256	3	1	153	1	0	0	0	0	1	0	0	0	13422	1058	37	1	161	1	RLN2	9	5300256	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		5300256	135913175	627	26601										
KIAA2026	158358	genome.wustl.edu	37	chr9	6007497	6007497	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggctgcagaaagggggcggtGaggccccggtgcttctcctg	18	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:6007497G>A	ENST00000399933.3	-	1	290	c.291C>T	c.(289-291)ctC>ctT	p.L97L	KIAA2026_ENST00000381461.2_Silent_p.L97L|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	97										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGGGGCGGTGAGGCCCCGGT	0.716																																																	0													18	23	22					9																	6007497		1971	4135	6106	SO:0001819	synonymous_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.291C>T	9.37:g.6007497G>A			A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.L97	ENST00000399933.3	37	c.291		9																																																																																			KIAA2026	-	NULL		0.716	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	G	NM_001017969		6007497	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	silent	SNP	1.000	A	A	6007497	G	A	6007497	2	1	153	1	0	0	0	0	0	0	0	1	8290	1277	45	1		1	KIAA2026	9	6007497	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	707241	6007497	135205934	628	26602										
RANBP6	26953	genome.wustl.edu	37	chr9	6012370	6012370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acattccaaccataaatcttCagaagtctgtacctgacgca	5	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:6012370C>T	ENST00000259569.5	-	1	3248	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1080					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAAATCTTCAGAAGTCTGT	0.373																																																	0													78	73	75					9																	6012370		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3238G>A	9.37:g.6012370C>T	ENSP00000259569:p.Glu1080Lys		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E1080K	ENST00000259569.5	37	c.3238	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027620	0.19512	.	.	ENSG00000137040	ENST00000259569	T	0.09630	2.96	4.52	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);	0.176489	0.48286	D	0.000188	T	0.06600	0.0169	N	0.17082	0.46	0.42787	D	0.993888	B;B;B	0.20887	0.049;0.016;0.029	B;B;B	0.14023	0.01;0.007;0.01	T	0.15435	-1.0437	10	0.06757	T	0.87	-6.676	15.5697	0.76323	0.0:1.0:0.0:0.0	.	247;668;1080	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	K	1080	ENSP00000259569:E1080K	ENSP00000259569:E1080K	E	-	1	0	RANBP6	6002370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.157000	0.42320	2.813000	0.96785	0.655000	0.94253	GAA	RANBP6	-	superfamily_ARM-type_fold		0.373	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	C	NM_012416		6012370	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6012370	C	T	6012370	3	4	153	1	0	0	0	0	1	0	0	0	13061	835	29	1	83	1	RANBP6	9	6012370	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4873	6012370	135201061	629	26603										
IL33	90865	genome.wustl.edu	37	chr9	6256139	6256139	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgagaatttgtgtactgaaAatatcttgtttaagctctct	7	6	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:6256139A>T	ENST00000381434.3	+	7	797	c.784A>T	c.(784-786)Aat>Tat	p.N262Y	IL33_ENST00000456383.2_Missense_Mutation_p.N220Y|IL33_ENST00000417746.2_Missense_Mutation_p.N136Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	262					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTGTACTGAAAATATCTTGTT	0.373																																																	0													101	104	103					9																	6256139		2203	4300	6503	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.784A>T	9.37:g.6256139A>T	ENSP00000370842:p.Asn262Tyr		B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	NULL	p.N262Y	ENST00000381434.3	37	c.784	CCDS6468.1	9	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478114	0.44044	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.51325	0.71;0.71;0.71	5.13	1.64	0.23874	.	0.377575	0.23016	N	0.052914	T	0.47395	0.1443	L	0.27053	0.805	0.09310	N	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.66084	0.879;0.941;0.941	T	0.24476	-1.0159	10	0.87932	D	0	-15.931	6.1292	0.20195	0.7044:0.0:0.2956:0.0	.	136;220;262	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	Y	136;220;262	ENSP00000394039:N136Y;ENSP00000414238:N220Y;ENSP00000370842:N262Y	ENSP00000370842:N262Y	N	+	1	0	IL33	6246139	0.009000	0.17119	0.004000	0.12327	0.138000	0.21146	1.678000	0.37586	0.522000	0.28464	0.533000	0.62120	AAT	IL33	-	NULL		0.373	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	A	NM_033439		6256139	1	no_errors	ENST00000381434	ensembl	human	known	70_37	missense	SNP	0.001	T	T	6256139	A	T	6256139	3	4	153	1	0	0	0	0	1	0	0	0	7713	14	1	5	810	5	IL33	9	6256139	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	243769	6256139	134957292	630	26604										
BNC2	54796	genome.wustl.edu	37	chr9	16436783	16436783	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcaaccttcaatggtgcatCgatgtttgatcttcaggtga	10	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:16436783C>G	ENST00000380672.4	-	6	1466	c.1409G>C	c.(1408-1410)cGa>cCa	p.R470P	BNC2_ENST00000545497.1_Missense_Mutation_p.R375P|BNC2_ENST00000380667.2_Missense_Mutation_p.R403P|BNC2_ENST00000380666.2_Missense_Mutation_p.R470P	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AATGGTGCATCGATGTTTGAT	0.448																																																	0													141	131	134					9																	16436783		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1409G>C	9.37:g.16436783C>G	ENSP00000370047:p.Arg470Pro			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R470P	ENST00000380672.4	37	c.1409	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083555	0.55861	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.998;0.999;0.999;1.0	D;D;D;D;D;P;D;D;D	0.87578	0.991;0.96;0.998;0.974;0.917;0.827;0.982;0.96;0.998	T	0.39375	-0.9617	10	0.51188	T	0.08	-8.8765	20.6439	0.99570	0.0:1.0:0.0:0.0	.	375;403;470;296;470;427;470;375;235	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	P	470;427;403;375;296;470;470	ENSP00000370047:R470P;ENSP00000408370:R427P;ENSP00000370042:R403P;ENSP00000444640:R375P;ENSP00000370041:R470P	ENSP00000370041:R470P	R	-	2	0	BNC2	16426783	0.999000	0.42202	0.986000	0.45419	0.947000	0.59692	4.094000	0.57721	2.884000	0.98904	0.655000	0.94253	CGA	BNC2	-	smart_Znf_C2H2-like		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16436783	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16436783	C	G	16436783	3	3	153	1	0	0	0	0	1	0	0	0	1476	884	31	1	1898	1	BNC2	9	16436783	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10180644	16436783	124776648	631	26605										
KIAA1797	54914	genome.wustl.edu	37	chr9	20770100	20770100	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatgtttaagccttttgcgtCatcctgttttctggaaaatt	7	7	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:20770100C>T	ENST00000380249.1	+	10	1133	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	FOCAD_ENST00000338382.6_Missense_Mutation_p.H257Y	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	257						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CCTTTTGCGTCATCCTGTTTT	0.353																																																	0													173	180	178					9																	20770100		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.769C>T	9.37:g.20770100C>T	ENSP00000369599:p.His257Tyr		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.H257Y	ENST00000380249.1	37	c.769	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599359	0.28534	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.06768	3.26;3.26	5.57	3.74	0.42951	.	0.549745	0.20667	N	0.087911	T	0.06050	0.0157	N	0.20986	0.625	0.36349	D	0.859979	B	0.02656	0.0	B	0.04013	0.001	T	0.27191	-1.0081	10	0.36615	T	0.2	-5.1394	8.8276	0.35065	0.0:0.7184:0.0:0.2816	.	257	Q5VW36	K1797_HUMAN	Y	257	ENSP00000369599:H257Y;ENSP00000344307:H257Y	ENSP00000344307:H257Y	H	+	1	0	KIAA1797	20760100	0.850000	0.29656	0.997000	0.53966	0.982000	0.71751	1.162000	0.31786	0.716000	0.32124	0.561000	0.74099	CAT	FOCAD	-	NULL		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	C	NM_017794		20770100	1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	0.977	T	T	20770100	C	T	20770100	3	4	153	1	0	0	0	0	1	0	0	0	8278	826	29	1	795	1	KIAA1797	9	20770100	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4333317	20770100	120443331	632	26606										
SMU1	55234	genome.wustl.edu	37	chr9	33073633	33073633	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggttttgtctggcaatttCagagactgtatagcctgcaa	11	7	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:33073633C>T	ENST00000397149.3	-	2	248	c.198G>A	c.(196-198)ctG>ctA	p.L66L	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	66	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGGCAATTTCAGAGACTGTA	0.483																																																	0													137	117	124					9																	33073633		2203	4299	6502	SO:0001819	synonymous_variant	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.198G>A	9.37:g.33073633C>T			B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L66	ENST00000397149.3	37	c.198	CCDS6534.1	9																																																																																			SMU1	-	smart_CTLH_C,pfscan_CTLH_C		0.483	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMU1	HGNC	protein_coding	OTTHUMT00000052022.1	C	NM_018225		33073633	-1	no_errors	ENST00000397149	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33073633	C	T	33073633	2	4	153	1	0	0	0	0	0	0	0	1	14847	813	29	1		1	SMU1	9	33073633	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12303533	33073633	108139798	633	26607										
RUSC2	9853	genome.wustl.edu	37	chr9	35560361	35560361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagaaggtggagaagaggaaGaggaagaagaggagacagaa	18	2	0	8			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:35560361G>C	ENST00000455600.1	+	10	4293	c.3724G>C	c.(3724-3726)Gag>Cag	p.E1242Q	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1242	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaagaggaagaggaagaaga	0.697																																																	0													21	26	24					9																	35560361		2200	4287	6487	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3724G>C	9.37:g.35560361G>C	ENSP00000393922:p.Glu1242Gln		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.E1242Q	ENST00000455600.1	37	c.3724	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491444	0.44249	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.24538	1.85;1.85	5.41	5.41	0.78517	.	0.305491	0.37393	N	0.002103	T	0.32010	0.0815	L	0.27053	0.805	0.33139	D	0.544093	D	0.63880	0.993	P	0.55508	0.777	T	0.18999	-1.0319	10	0.25106	T	0.35	.	18.177	0.89764	0.0:0.0:1.0:0.0	.	1242	Q8N2Y8	RUSC2_HUMAN	Q	1242	ENSP00000355177:E1242Q;ENSP00000393922:E1242Q	ENSP00000355177:E1242Q	E	+	1	0	RUSC2	35550361	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.872000	0.56085	2.534000	0.85438	0.561000	0.74099	GAG	RUSC2	-	NULL		0.697	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35560361	1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	0.995	C	C	35560361	G	C	35560361	3	2	153	1	0	0	0	0	1	0	0	0	13781	943	33	1	3758	1	RUSC2	9	35560361	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2486728	35560361	105653070	634	26608										
TLN1	7094	genome.wustl.edu	37	chr9	35704813	35704813	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtttgatatgggaacctatCtgtgagccaagggaaagaca	12	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:35704813C>G	ENST00000314888.9	-	44	6087		c.e44-1		TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Splice_Site	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAACCTATCTGTGAGCCAA	0.527																																																	0													58	58	58					9																	35704813		2203	4300	6503	SO:0001630	splice_region_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5734-1G>C	9.37:g.35704813C>G			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Splice_Site	SNP	-	e43-1	ENST00000314888.9	37	c.5734-1	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515707	0.64634	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0125	0.89229	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLN1	35694813	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.814000	0.86154	2.250000	0.74265	0.462000	0.41574	.	TLN1	-	-		0.527	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289	Intron	35704813	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	35704813	C	G	35704813	5	3	153	1	0	0	0	0	0	0	1	0	15977	927	32	1	1948	1	TLN1	9	35704813	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	144452	35704813	105508618	635	26609										
RECK	8434	genome.wustl.edu	37	chr9	36063807	36063807	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttaaggtgtgtttaagaagtCtgatggctgggttggcttag	15	3	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:36063807C>G	ENST00000377966.3	+	5	853	c.287C>G	c.(286-288)tCt>tGt	p.S96C	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	96	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTAAGAAGTCTGATGGCTGG	0.418																																																	0													121	107	112					9																	36063807		2203	4300	6503	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.287C>G	9.37:g.36063807C>G	ENSP00000367202:p.Ser96Cys		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal	p.S96C	ENST00000377966.3	37	c.287	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098216	0.76870	.	.	ENSG00000122707	ENST00000377966	T	0.47177	0.85	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	N	0.14661	0.345	0.45648	D	0.998576	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.79108	0.99;0.945;0.992	T	0.57254	-0.7843	10	0.49607	T	0.09	-20.588	17.4988	0.87726	0.0:1.0:0.0:0.0	.	96;96;96	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	C	96	ENSP00000367202:S96C	ENSP00000367202:S96C	S	+	2	0	RECK	36053807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.808000	0.69165	2.726000	0.93360	0.563000	0.77884	TCT	RECK	-	NULL		0.418	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	C			36063807	1	no_errors	ENST00000377966	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36063807	C	G	36063807	3	3	153	1	0	0	0	0	1	0	0	0	13230	913	32	1	305	1	RECK	9	36063807	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	358994	36063807	105149624	636	26610										
CLTA	1211	genome.wustl.edu	37	chr9	36204091	36204091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attctcggaagcaagaagcaGagtggaaagaaaaggcaata	12	5	1	3	rs374987763		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:36204091G>C	ENST00000242285.6	+	4	520	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	CLTA_ENST00000540080.1_Missense_Mutation_p.E82Q|CLTA_ENST00000466396.1_Missense_Mutation_p.E82Q|CLTA_ENST00000345519.5_Missense_Mutation_p.E134Q|CLTA_ENST00000538225.1_Missense_Mutation_p.E134Q|CLTA_ENST00000433436.2_Missense_Mutation_p.E134Q|CLTA_ENST00000470744.1_Missense_Mutation_p.E134Q|CLTA_ENST00000396603.2_Missense_Mutation_p.E134Q			P09496	CLCA_HUMAN	clathrin, light chain A	134	Involved in binding clathrin heavy chain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GCAAGAAGCAGAGTGGAAAGA	0.423																																																	0													127	102	110					9																	36204091		2203	4300	6503	SO:0001583	missense	1211				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"clathrin, light polypeptide (Lca)"			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.400G>C	9.37:g.36204091G>C	ENSP00000242285:p.Glu134Gln		A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Missense_Mutation	SNP	pfam_Clathrin_L-chain	p.E134Q	ENST00000242285.6	37	c.400	CCDS6601.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129134	0.56721	.	.	ENSG00000122705	ENST00000433436;ENST00000538225;ENST00000540080;ENST00000345519;ENST00000470744;ENST00000242285;ENST00000466396;ENST00000396603	T	0.50001	0.76	5.92	4.08	0.47627	.	0.085942	0.85682	D	0.000000	T	0.69424	0.3109	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.979;0.999;1.0	D;P;D;D	0.85130	0.994;0.877;0.99;0.997	T	0.71784	-0.4488	10	0.39692	T	0.17	-2.1346	11.2579	0.49065	0.1529:0.0:0.8471:0.0	.	134;134;134;134	B4DIN1;P09496-2;P09496-3;P09496	.;.;.;CLCA_HUMAN	Q	134;134;82;134;134;134;82;134	ENSP00000242284:E134Q	ENSP00000242285:E134Q	E	+	1	0	CLTA	36194091	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	9.078000	0.94023	1.526000	0.49068	-0.140000	0.14226	GAG	CLTA	-	pfam_Clathrin_L-chain		0.423	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTA	HGNC	protein_coding	OTTHUMT00000052405.1	G	NM_007096		36204091	1	no_errors	ENST00000464497	ensembl	human	known	70_37	missense	SNP	0.998	C	C	36204091	G	C	36204091	3	2	153	1	0	0	0	0	1	0	0	0	3569	943	33	1	414	1	CLTA	9	36204091	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	140284	36204091	105009340	637	26611										
GNE	10020	genome.wustl.edu	37	chr9	36249292	36249292	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggggcaagtttagaataatCtgcacggttacaagtagcaa	11	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:36249292C>G	ENST00000539815.1	-	1	101	c.61G>C	c.(61-63)Gat>Cat	p.D21H	GNE_ENST00000396594.3_Missense_Mutation_p.D52H|GNE_ENST00000539208.1_Intron|GNE_ENST00000377902.5_Missense_Mutation_p.D21H|GNE_ENST00000447283.2_Missense_Mutation_p.D21H|GNE_ENST00000543356.2_Intron			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	21					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTAGAATAATCTGCACGGTTA	0.403																																					GBM(184;106 2118 20004 35750 50727)												0													189	157	168					9																	36249292		2203	4300	6503	SO:0001583	missense	10020			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.61G>C	9.37:g.36249292C>G	ENSP00000439155:p.Asp21His		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.D52H	ENST00000539815.1	37	c.154	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447648	0.84101	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000539815;ENST00000447283	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.98;0.996;0.99	D	0.99505	1.0954	10	0.87932	D	0	1.2531	15.8196	0.78628	0.0:1.0:0.0:0.0	.	52;21;21	Q9Y223-2;Q9Y223;A7UNU7	.;GLCNE_HUMAN;.	H	21;52;21;21	ENSP00000367134:D21H;ENSP00000379839:D52H;ENSP00000439155:D21H;ENSP00000414760:D21H	ENSP00000367134:D21H	D	-	1	0	GNE	36239292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.995000	0.76257	2.684000	0.91462	0.561000	0.74099	GAT	GNE	-	tigrfam_UDP-GlcNAc_Epase		0.403	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	C	NM_005476		36249292	-1	no_errors	ENST00000396594	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36249292	C	G	36249292	3	3	153	1	0	0	0	0	1	0	0	0	6541	913	32	1	2151	1	GNE	9	36249292	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	45201	36249292	104964139	638	26612										
SHB	6461	genome.wustl.edu	37	chr9	37955983	37955983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaagccccctccaggggcacGaagctggcgccgccggtccc	13	18	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:37955983G>A	ENST00000377707.3	-	4	1688	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	375	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCAGGGGCACGAAGCTGGCGC	0.607																																																	0													26	26	26					9																	37955983		1893	4098	5991	SO:0001583	missense	6461				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1123C>T	9.37:g.37955983G>A	ENSP00000366936:p.Arg375Cys		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R375C	ENST00000377707.3	37	c.1123	CCDS43806.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047523	0.75846	.	.	ENSG00000107338	ENST00000377707	T	0.37752	1.18	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000076	T	0.53126	0.1777	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53279	-0.8461	10	0.66056	D	0.02	-4.1935	11.9893	0.53166	0.0:0.0:0.827:0.173	.	375	Q15464	SHB_HUMAN	C	375	ENSP00000366936:R375C	ENSP00000366936:R375C	R	-	1	0	SHB	37945983	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.596000	0.54024	2.607000	0.88179	0.462000	0.41574	CGT	SHB	-	NULL		0.607	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHB	HGNC	protein_coding	OTTHUMT00000052490.1	G			37955983	-1	no_errors	ENST00000377707	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37955983	G	A	37955983	3	1	153	1	0	0	0	0	1	0	0	0	14298	1058	37	1	418	1	SHB	9	37955983	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1706691	37955983	103257448	639	26613										
PRKACG	5568	genome.wustl.edu	37	chr9	71628379	71628379	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgtagcctttgctcaggatGatctcgggggccaggtactc	13	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:71628379G>T	ENST00000377276.2	-	1	660	c.630C>A	c.(628-630)atC>atA	p.I210I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCTCAGGATGATCTCGGGGG	0.632																																					Esophageal Squamous(110;2236 2623 32146)												0													59	58	58					9																	71628379		2203	4300	6503	SO:0001819	synonymous_variant	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.630C>A	9.37:g.71628379G>T			O60850|Q5VZ02|Q86YI1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I210	ENST00000377276.2	37	c.630	CCDS6625.1	9																																																																																			PRKACG	-	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		0.632	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	G			71628379	-1	no_errors	ENST00000377276	ensembl	human	known	70_37	silent	SNP	1.000	T	T	71628379	G	T	71628379	2	4	153	1	0	0	0	0	0	0	0	1	12526	1280	45	3		3	PRKACG	9	71628379	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	33672396	71628379	69585052	640	26614										
TJP2	9414	genome.wustl.edu	37	chr9	71844105	71844105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttcttaacctacagctcctCaaccaaaagcagccccgaga	5	15	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:71844105C>G	ENST00000377245.4	+	10	1667	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	TJP2_ENST00000535702.1_Missense_Mutation_p.Q491E|TJP2_ENST00000265384.7_Missense_Mutation_p.Q487E|TJP2_ENST00000348208.4_Missense_Mutation_p.Q487E|TJP2_ENST00000453658.2_Missense_Mutation_p.Q464E|TJP2_ENST00000539225.1_Missense_Mutation_p.Q518E	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	487					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TACAGCTCCTCAACCAAAAGC	0.378																																																	0													192	180	184					9																	71844105		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1459C>G	9.37:g.71844105C>G	ENSP00000366453:p.Gln487Glu		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.Q518E	ENST00000377245.4	37	c.1552	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	3.967	-0.009132	0.07727	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.07800	3.17;3.17;3.17;3.16;3.17;3.22	5.85	5.85	0.93711	.	0.315071	0.30830	N	0.008781	T	0.09024	0.0223	L	0.44542	1.39	0.38894	D	0.957174	B;B;B;B;B	0.26547	0.152;0.028;0.066;0.041;0.113	B;B;B;B;B	0.24394	0.053;0.039;0.023;0.017;0.048	T	0.11567	-1.0582	10	0.02654	T	1	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	518;491;487;487;487	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	E	464;487;487;487;491;518	ENSP00000392178:Q464E;ENSP00000366453:Q487E;ENSP00000345893:Q487E;ENSP00000265384:Q487E;ENSP00000442090:Q491E;ENSP00000438262:Q518E	ENSP00000265384:Q487E	Q	+	1	0	TJP2	71033925	0.899000	0.30636	0.998000	0.56505	0.904000	0.53231	3.075000	0.50073	2.767000	0.95098	0.557000	0.71058	CAA	TJP2	-	NULL		0.378	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71844105	1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71844105	C	G	71844105	3	3	153	1	0	0	0	0	1	0	0	0	15960	827	29	1	1654	1	TJP2	9	71844105	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	215726	71844105	69369326	641	26615										
KLF9	687	genome.wustl.edu	37	chr9	73027987	73027987	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acccagattcggtggtcacgTcgctgtcggatcccatatcc	10	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:73027987T>G	ENST00000377126.2	-	1	1553	c.293A>C	c.(292-294)gAc>gCc	p.D98A		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	98	Asp/Glu-rich (acidic).				cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GGTGGTCACGTCGCTGTCGGA	0.612																																																	0													143	122	129					9																	73027987		2203	4300	6503	SO:0001583	missense	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.293A>C	9.37:g.73027987T>G	ENSP00000366330:p.Asp98Ala		B2R943|Q16196	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D98A	ENST00000377126.2	37	c.293	CCDS6633.1	9	.	.	.	.	.	.	.	.	.	.	T	10.55	1.381932	0.24944	.	.	ENSG00000119138	ENST00000377126	T	0.04809	3.55	4.85	4.85	0.62838	.	0.169496	0.39146	N	0.001456	T	0.02649	0.0080	N	0.08118	0	0.43199	D	0.995048	B	0.19583	0.037	B	0.09377	0.004	T	0.47711	-0.9096	10	0.09843	T	0.71	.	12.411	0.55468	0.0:0.0:0.0:1.0	.	98	Q13886	KLF9_HUMAN	A	98	ENSP00000366330:D98A	ENSP00000366330:D98A	D	-	2	0	KLF9	72217807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.488000	0.35551	1.826000	0.53198	0.455000	0.32223	GAC	KLF9	-	NULL		0.612	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF9	HGNC	protein_coding	OTTHUMT00000052602.1	T	NM_001206		73027987	-1	no_errors	ENST00000377126	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73027987	T	G	73027987	3	3	153	1	0	0	0	0	1	0	0	0	8373	1667	58	5	449	5	KLF9	9	73027987	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	1183882	73027987	68185444	642	26616										
TLE4	7091	genome.wustl.edu	37	chr9	82323635	82323635	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tacgctgggctccacaacatCtcccctcagatgagcgcagc	9	16	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:82323635C>G	ENST00000376552.2	+	13	2215	c.1197C>G	c.(1195-1197)atC>atG	p.I399M	TLE4_ENST00000376544.3_Missense_Mutation_p.I330M|TLE4_ENST00000376534.4_Missense_Mutation_p.I36M|TLE4_ENST00000376520.4_Missense_Mutation_p.I431M|TLE4_ENST00000265284.6_Missense_Mutation_p.I374M|TLE4_ENST00000376537.4_Missense_Mutation_p.I431M	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	399					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCACAACATCTCCCCTCAGA	0.567																																																	0													39	44	42					9																	82323635		1997	4207	6204	SO:0001583	missense	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1197C>G	9.37:g.82323635C>G	ENSP00000365735:p.Ile399Met		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.I431M	ENST00000376552.2	37	c.1293	CCDS43837.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.156|8.156|8.156	0.788376|0.788376|0.788376	0.16258|0.16258|0.16258	.|.|.	.|.|.	ENSG00000106829|ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284;ENST00000490347;ENST00000467142|ENST00000496114|ENST00000417836	T;T;T;T;T;T;T;T|.|.	0.51071|.|.	0.92;0.95;1.0;1.01;0.72;1.01;1.91;1.49|.|.	6.16|6.16|6.16	4.3|4.3|4.3	0.51218|0.51218|0.51218	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.36717|0.36717|0.36717	0.0977|0.0977|0.0977	N|N|N	0.11845|0.11845|0.11845	0.185|0.185|0.185	0.47511|0.47511|0.47511	D|D|D	0.999446|0.999446|0.999446	B;B;B;B|.|.	0.20671|.|.	0.004;0.047;0.004;0.002|.|.	B;B;B;B|.|.	0.15484|.|.	0.007;0.013;0.007;0.003|.|.	T|T|T	0.11397|0.11397|0.11397	-1.0589|-1.0589|-1.0589	10|5|5	0.10377|.|.	T|.|.	0.69|.|.	-22.6703|-22.6703|-22.6703	10.4397|10.4397|10.4397	0.44457|0.44457|0.44457	0.0:0.7705:0.0:0.2295|0.0:0.7705:0.0:0.2295|0.0:0.7705:0.0:0.2295	.|.|.	374;330;431;399|.|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.|.	.;.;.;TLE4_HUMAN|.|.	M|V|C	399;330;431;431;36;374;218;127|190|164	ENSP00000365735:I399M;ENSP00000365727:I330M;ENSP00000365703:I431M;ENSP00000365720:I431M;ENSP00000365717:I36M;ENSP00000265284:I374M;ENSP00000417844:I218M;ENSP00000418409:I127M|.|.	ENSP00000265284:I374M|.|.	I|L|S	+|+|+	3|1|2	3|0|0	TLE4|TLE4|TLE4	81513455|81513455|81513455	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	0.302000|0.302000|0.302000	0.19192|0.19192|0.19192	0.893000|0.893000|0.893000	0.36288|0.36288|0.36288	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	ATC|CTC|TCT	TLE4	-	NULL		0.567	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	C	XM_212237		82323635	1	no_errors	ENST00000376520	ensembl	human	known	70_37	missense	SNP	1.000	G	G	82323635	C	G	82323635	3	3	153	1	0	0	0	0	1	0	0	0	15971	903	32	1	1247	1	TLE4	9	82323635	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9295648	82323635	58889796	643	26617										
ZCCHC6	79670	genome.wustl.edu	37	chr9	88916443	88916443	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttgtgaatttctttgtcctCtttgcttcttttttccttgt	6	8	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:88916443C>G	ENST00000375963.3	-	26	4340	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1352Q|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E679Q|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E290Q|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1154Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1390					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTGTCCTCTTTGCTTCTT	0.443																																																	0													286	228	247					9																	88916443		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4168G>C	9.37:g.88916443C>G	ENSP00000365130:p.Glu1390Gln		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E1390Q	ENST00000375963.3	37	c.4168	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215168	0.79352	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.61980	0.06;0.64;0.58;0.5	5.14	5.14	0.70334	.	0.126086	0.52532	D	0.000080	T	0.69949	0.3168	L	0.32530	0.975	0.44092	D	0.996859	P;D;P	0.67145	0.745;0.996;0.709	P;D;B	0.63877	0.506;0.919;0.261	T	0.71185	-0.4667	10	0.52906	T	0.07	-18.0417	18.8078	0.92045	0.0:1.0:0.0:0.0	.	1352;1154;1390	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	Q	679;1154;1352;290;1390	ENSP00000277141:E679Q;ENSP00000365127:E1154Q;ENSP00000365128:E1352Q;ENSP00000365130:E1390Q	ENSP00000277141:E679Q	E	-	1	0	ZCCHC6	88106263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.344000	0.52174	2.677000	0.91161	0.655000	0.94253	GAG	ZCCHC6	-	NULL		0.443	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	C	NM_024617		88916443	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88916443	C	G	88916443	3	3	153	1	0	0	0	0	1	0	0	0	17622	922	32	1	327	1	ZCCHC6	9	88916443	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6592808	88916443	52296988	644	26618										
ZNF484	83744	genome.wustl.edu	37	chr9	95610246	95610246	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcattcatgctgcttttcttCagcacaaatactctcatgtg	6	11	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:95610246C>T	ENST00000375495.3	-	5	971	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ZNF484_ENST00000332591.6_Missense_Mutation_p.E239K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E277K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.E239K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGCTTTTCTTCAGCACAAATA	0.423																																																	0													95	92	93					9																	95610246		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.823G>A	9.37:g.95610246C>T	ENSP00000364645:p.Glu275Lys		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E277K	ENST00000375495.3	37	c.829	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	13.44	2.238648	0.39598	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	2.47	2.47	0.30058	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.16862	0.45	0.28305	N	0.922924	P;P	0.35844	0.524;0.524	B;B	0.31946	0.138;0.138	T	0.12863	-1.0531	9	0.62326	D	0.03	.	8.5713	0.33572	0.0:1.0:0.0:0.0	.	277;275	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	239;277;275;239	ENSP00000378881:E239K;ENSP00000378882:E277K;ENSP00000364645:E275K;ENSP00000364646:E239K	ENSP00000364646:E239K	E	-	1	0	ZNF484	94650067	0.103000	0.21917	0.479000	0.27329	0.096000	0.18686	3.307000	0.51888	1.692000	0.51112	0.549000	0.68633	GAA	ZNF484	-	NULL		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95610246	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.997	T	T	95610246	C	T	95610246	3	4	153	1	0	0	0	0	1	0	0	0	17967	835	29	1	1739	1	ZNF484	9	95610246	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6693803	95610246	45603185	645	26619										
FGD3	89846	genome.wustl.edu	37	chr9	95776211	95776211	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcaacccggccaatgaactGatcaaggagggccaaatcca	10	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:95776211G>C	ENST00000375482.3	+	9	1609	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L	FGD3_ENST00000416701.2_Silent_p.L371L|FGD3_ENST00000538555.1_5'Flank|FGD3_ENST00000337352.6_Silent_p.L371L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	371	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCAATGAACTGATCAAGGAGG	0.592																																																	0													140	149	146					9																	95776211		2005	4175	6180	SO:0001819	synonymous_variant	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1113G>C	9.37:g.95776211G>C			F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L371	ENST00000375482.3	37	c.1113	CCDS43849.1	9																																																																																			FGD3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.592	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	G	NM_033086		95776211	1	no_errors	ENST00000337352	ensembl	human	known	70_37	silent	SNP	1.000	C	C	95776211	G	C	95776211	2	2	153	1	0	0	0	0	0	0	0	1	5852	1277	45	1		1	FGD3	9	95776211	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	165965	95776211	45437220	646	26620										
SUSD3	203328	genome.wustl.edu	37	chr9	95838224	95838224	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctggaaggggagcatcgctGagtggtcttcagggtcccca	15	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:95838224G>C	ENST00000375472.3	+	2	283	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.E70Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	83	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GAGCATCGCTGAGTGGTCTTC	0.637																																																	0													82	71	75					9																	95838224		2203	4300	6503	SO:0001583	missense	203328			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.247G>C	9.37:g.95838224G>C	ENSP00000364621:p.Glu83Gln		Q49AA6|Q6UXV7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E83Q	ENST00000375472.3	37	c.247	CCDS6701.1	9	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357752	0.24598	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.64260	-0.09;-0.09	5.11	-0.475	0.12104	Complement control module (2);Sushi/SCR/CCP (3);	0.713412	0.14348	N	0.325316	T	0.32436	0.0829	N	0.20766	0.605	0.09310	N	1	B;B	0.27013	0.138;0.166	B;B	0.21151	0.022;0.033	T	0.13308	-1.0514	10	0.08381	T	0.77	-13.6001	1.145	0.01773	0.1643:0.2668:0.2964:0.2725	.	70;83	Q96L08-2;Q96L08	.;SUSD3_HUMAN	Q	83;70	ENSP00000364621:E83Q;ENSP00000364618:E70Q	ENSP00000364618:E70Q	E	+	1	0	SUSD3	94878045	0.068000	0.21057	0.037000	0.18230	0.726000	0.41606	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG	SUSD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.637	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1	G	NM_145006		95838224	1	no_errors	ENST00000375472	ensembl	human	known	70_37	missense	SNP	0.009	C	C	95838224	G	C	95838224	3	2	153	1	0	0	0	0	1	0	0	0	15439	1291	45	1	253	1	SUSD3	9	95838224	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	62013	95838224	45375207	647	26621										
FAM22G	441457	genome.wustl.edu	37	chr9	99700821	99700821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaaacctccccaccccagaCggctgcccaggaccctcagg	10	19	1	1	rs377529446		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:99700821C>T	ENST00000372322.3	+	7	1637	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	NUTM2G_ENST00000354649.3_Intron|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	539																	CCACCCCAGACGGCTGCCCAG	0.622																																																	0								C	,MET/THR	0,1384		0,0,692	87	91	90		,1616	-2	0	9		90	1,3181		0,1,1590	no	intron,missense	FAM22G	NM_001045477.2,NM_001170741.1	,81	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	,	,539/742	99700821	1,4565	692	1591	2283	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1616C>T	9.37:g.99700821C>T	ENSP00000361397:p.Thr539Met		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.T539M	ENST00000372322.3	37	c.1616	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.279659	0.01410	0.0	3.14E-4	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.10860	2.83	1.01	-2.02	0.07388	.	1.795410	0.02645	N	0.105819	T	0.10465	0.0256	L	0.48362	1.52	0.09310	N	1	.	.	.	.	.	.	T	0.17018	-1.0383	8	0.26408	T	0.33	.	2.0539	0.03577	0.2554:0.3438:0.0:0.4008	.	.	.	.	M	539;388;420	ENSP00000361397:T539M	ENSP00000361397:T539M	T	+	2	0	FAM22G	98740642	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.273000	0.01164	-1.246000	0.02510	-0.370000	0.07254	ACG	FAM22G	-	NULL		0.622	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	C	NM_001170741		99700821	1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.000	T	T	99700821	C	T	99700821	3	4	153	1	0	0	0	0	1	0	0	0	5561	536	19	2	1642	2	FAM22G	9	99700821	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3862597	99700821	41512610	648	26622										
COL15A1	1306	genome.wustl.edu	37	chr9	101748154	101748154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggccaccagcggatcatcctCtactacacggagccaggctc	10	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:101748154C>T	ENST00000375001.3	+	3	831	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	136	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGATCATCCTCTACTACACGG	0.617																																																	0													95	89	91					9																	101748154		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.408C>T	9.37:g.101748154C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L136	ENST00000375001.3	37	c.408	CCDS35081.1	9																																																																																			COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101748154	1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.993	T	T	101748154	C	T	101748154	2	4	153	1	0	0	0	0	0	0	0	1	3677	900	32	1		1	COL15A1	9	101748154	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2047333	101748154	39465277	649	26623										
ALDOB	229	genome.wustl.edu	37	chr9	104184112	104184112	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tagtaggtatagcaggctgtGaagagcgactgggtggaagc	17	5	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:104184112G>A	ENST00000374855.4	-	9	1198	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	358					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.F358_Y364delFTACYTY(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCAGGCTGTGAAGAGCGACT	0.537																																																	1	Deletion - In frame(1)	liver(1)											91	89	90					9																	104184112		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.1074C>T	9.37:g.104184112G>A			Q13741|Q13742|Q5T7D6	Silent	SNP	pfam_Aldolase_I	p.F358	ENST00000374855.4	37	c.1074	CCDS6756.1	9																																																																																			ALDOB	-	pfam_Aldolase_I		0.537	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	G			104184112	-1	no_errors	ENST00000374855	ensembl	human	known	70_37	silent	SNP	1.000	A	A	104184112	G	A	104184112	2	1	153	1	0	0	0	0	0	0	0	1	508	1281	45	1		1	ALDOB	9	104184112	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2435958	104184112	37029319	650	26624										
SVEP1	79987	genome.wustl.edu	37	chr9	113149654	113149654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactgtagcctctgttgcagGaatataccacgttgggtcca	11	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:113149654G>A	ENST00000401783.2	-	42	10307	c.9971C>T	c.(9970-9972)tCc>tTc	p.S3324F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S3301F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S1250F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3324	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGTTGCAGGAATATACCAC	0.478																																																	0													137	135	136					9																	113149654		1924	4115	6039	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9971C>T	9.37:g.113149654G>A	ENSP00000384917:p.Ser3324Phe		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S3324F	ENST00000401783.2	37	c.9971	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786021	0.31593	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66995	-0.24;-0.24;-0.24	5.09	4.19	0.49359	Complement control module (2);Sushi/SCR/CCP (3);	0.435723	0.26816	N	0.022345	T	0.62073	0.2398	M	0.61703	1.905	0.80722	D	1	P	0.46327	0.876	P	0.44597	0.454	T	0.64360	-0.6426	10	0.62326	D	0.03	.	4.5925	0.12313	0.1707:0.0:0.5339:0.2953	.	3324	Q4LDE5	SVEP1_HUMAN	F	3324;3301;1250	ENSP00000384917:S3324F;ENSP00000363593:S3301F;ENSP00000297826:S1250F	ENSP00000297826:S1250F	S	-	2	0	SVEP1	112189475	1.000000	0.71417	0.987000	0.45799	0.921000	0.55340	2.186000	0.42593	1.277000	0.44412	0.650000	0.86243	TCC	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		G			113149654	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.998	A	A	113149654	G	A	113149654	3	1	153	1	0	0	0	0	1	0	0	0	15450	1174	41	1	772	1	SVEP1	9	113149654	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8965542	113149654	28063777	651	26625										
SVEP1	79987	genome.wustl.edu	37	chr9	113217957	113217957	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaaggcagtgggctgcactCatcgatgtctgtttcacact	11	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:113217957C>G	ENST00000401783.2	-	22	4036	c.3700G>C	c.(3700-3702)Gag>Cag	p.E1234Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.E1211Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1234Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1234	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCTGCACTCATCGATGTCT	0.433																																																	0													71	67	69					9																	113217957		1921	4131	6052	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3700G>C	9.37:g.113217957C>G	ENSP00000384917:p.Glu1234Gln		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E1234Q	ENST00000401783.2	37	c.3700	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795807	0.90453	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91996	-2.95;-2.95;-2.95	5.79	5.79	0.91817	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.045746	0.85682	D	0.000000	D	0.96074	0.8721	M	0.76727	2.345	0.47183	D	0.999342	D;D	0.76494	0.997;0.999	D;D	0.75484	0.986;0.972	D	0.95823	0.8851	10	0.66056	D	0.02	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	1234;1234	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Q	1234;1211;1234	ENSP00000384917:E1234Q;ENSP00000363593:E1211Q;ENSP00000304118:E1234Q	ENSP00000304118:E1234Q	E	-	1	0	SVEP1	112257778	1.000000	0.71417	0.999000	0.59377	0.725000	0.41563	7.462000	0.80851	2.731000	0.93534	0.591000	0.81541	GAG	SVEP1	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113217957	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113217957	C	G	113217957	3	3	153	1	0	0	0	0	1	0	0	0	15450	835	29	1	7123	1	SVEP1	9	113217957	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	68303	113217957	27995474	652	26626										
C9orf84	158401	genome.wustl.edu	37	chr9	114521010	114521010	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgtgaagatctgtcctttGaaatctaaaagaggatcctt	8	7	3	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:114521010G>A	ENST00000318737.4	-	4	497	c.369C>T	c.(367-369)ttC>ttT	p.F123F	C9orf84_ENST00000394779.3_Silent_p.F84F|C9orf84_ENST00000374287.3_Silent_p.F123F|C9orf84_ENST00000374283.5_Silent_p.F187F|C9orf84_ENST00000394777.4_Silent_p.F84F	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	123										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGTCCTTTGAAATCTAAAA	0.323																																																	0													51	52	52					9																	114521010		2203	4298	6501	SO:0001819	synonymous_variant	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.369C>T	9.37:g.114521010G>A			A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.F123	ENST00000318737.4	37	c.369	CCDS6781.3	9																																																																																			C9orf84	-	NULL		0.323	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	G	NM_173521		114521010	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114521010	G	A	114521010	2	1	153	1	0	0	0	0	0	0	0	1	2505	1281	45	1		1	C9orf84	9	114521010	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1303053	114521010	26692421	653	26627										
FKBP15	23307	genome.wustl.edu	37	chr9	115947059	115947059	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgttgccgggcttcagtcatGagaaatgaagccatatcacc	10	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:115947059G>C	ENST00000238256.3	-	16	1641	c.1524C>G	c.(1522-1524)ctC>ctG	p.L508L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	508					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTCAGTCATGAGAAATGAAG	0.413																																																	0													47	42	43					9																	115947059		1973	4172	6145	SO:0001819	synonymous_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1524C>G	9.37:g.115947059G>C			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.L508	ENST00000238256.3	37	c.1524	CCDS48007.1	9																																																																																			FKBP15	-	NULL		0.413	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		G	NM_015258		115947059	-1	no_errors	ENST00000238256	ensembl	human	known	70_37	silent	SNP	1.000	C	C	115947059	G	C	115947059	2	2	153	1	0	0	0	0	0	0	0	1	5923	1277	45	1		1	FKBP15	9	115947059	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1426049	115947059	25266372	654	26628										
DFNB31	25861	genome.wustl.edu	37	chr9	117266634	117266634	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgctgaagcccaagccctCgtgggccttggcacgccgca	13	15	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:117266634C>G	ENST00000362057.3	-	1	616	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	DFNB31_ENST00000265134.6_5'Flank|DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000374057.3_Missense_Mutation_p.E150Q	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	150	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAAGCCCTCGTGGGCCTTG	0.706																																																	0													48	51	50					9																	117266634		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.448G>C	9.37:g.117266634C>G	ENSP00000354623:p.Glu150Gln		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E150Q	ENST00000362057.3	37	c.448	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458099	0.84317	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.29655	1.56;1.56	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	N	0.11064	0.09	0.80722	D	1	D;P;P	0.53745	0.962;0.771;0.515	P;B;B	0.52454	0.699;0.425;0.283	T	0.06734	-1.0810	10	0.25751	T	0.34	-35.5451	20.04	0.97581	0.0:1.0:0.0:0.0	.	150;150;150	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	Q	150	ENSP00000354623:E150Q;ENSP00000363170:E150Q	ENSP00000354623:E150Q	E	-	1	0	DFNB31	116306455	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.026000	0.76455	2.733000	0.93635	0.655000	0.94253	GAG	DFNB31	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.706	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404		117266634	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117266634	C	G	117266634	3	3	153	1	0	0	0	0	1	0	0	0	4465	893	31	1	2323	1	DFNB31	9	117266634	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1319575	117266634	23946797	655	26629										
C9orf91	203197	genome.wustl.edu	37	chr9	117396098	117396098	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgccaatggagccctcctGagacaccgggtgctgctggg	15	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:117396098G>C	ENST00000288502.4	+	6	962	c.525G>C	c.(523-525)ctG>ctC	p.L175L	C9orf91_ENST00000374049.4_Silent_p.L176L			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	175						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAGCCCTCCTGAGACACCGGG	0.582																																																	0													95	83	87					9																	117396098		2203	4300	6503	SO:0001819	synonymous_variant	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.525G>C	9.37:g.117396098G>C			A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	NULL	p.L176	ENST00000288502.4	37	c.528	CCDS6808.1	9																																																																																			C9orf91	-	NULL		0.582	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	G	NM_153045		117396098	1	no_errors	ENST00000374049	ensembl	human	known	70_37	silent	SNP	0.910	C	C	117396098	G	C	117396098	2	2	153	1	0	0	0	0	0	0	0	1	2510	1277	45	1		1	C9orf91	9	117396098	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	129464	117396098	23817333	656	26630										
TLR4	7099	genome.wustl.edu	37	chr9	120475262	120475262	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctgtgcaatttgaccattGaagaattccgattagcatac	8	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:120475262G>A	ENST00000355622.6	+	3	957	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E246K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	286					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTGACCATTGAAGAATTCCG	0.363																																																	0													94	99	97					9																	120475262		2203	4300	6503	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.856G>A	9.37:g.120475262G>A	ENSP00000363089:p.Glu286Lys		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E286K	ENST00000355622.6	37	c.856	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	G	5.861	0.343120	0.11069	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37752	1.51;1.18	5.78	3.0	0.34707	.	0.681719	0.14456	N	0.318478	T	0.29028	0.0721	L	0.43923	1.385	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20042	-1.0287	10	0.44086	T	0.13	.	8.0679	0.30672	0.1876:0.1699:0.6425:0.0	.	286	O00206	TLR4_HUMAN	K	246;286	ENSP00000377997:E246K;ENSP00000363089:E286K	ENSP00000363089:E286K	E	+	1	0	TLR4	119515083	0.032000	0.19561	0.004000	0.12327	0.006000	0.05464	0.155000	0.16362	0.389000	0.25086	-0.794000	0.03295	GAA	TLR4	-	pirsf_Toll-like_receptor		0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	G	NM_138554		120475262	1	no_errors	ENST00000355622	ensembl	human	known	70_37	missense	SNP	0.020	A	A	120475262	G	A	120475262	3	1	153	1	0	0	0	0	1	0	0	0	15983	1291	45	1	866	1	TLR4	9	120475262	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3079164	120475262	20738169	657	26631										
PSMD5	5711	genome.wustl.edu	37	chr9	123605112	123605112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactgcctgcagcacggagtGaagcgcgcgtagctcctcca	12	15	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:123605112G>A	ENST00000210313.3	-	1	150	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5-AS1_ENST00000609388.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.H26Y|PSMD5-AS1_ENST00000432640.1_RNA|PSMD5-AS1_ENST00000586907.1_RNA|PSMD5-AS1_ENST00000608862.1_RNA|PSMD5-AS1_ENST00000588973.1_RNA|PSMD5-AS1_ENST00000447891.1_RNA|PSMD5-AS1_ENST00000442982.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	26					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGCACGGAGTGAAGCGCGCGT	0.677																																																	0													14	15	15					9																	123605112		2201	4294	6495	SO:0001583	missense	5711			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.76C>T	9.37:g.123605112G>A	ENSP00000210313:p.His26Tyr		B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold	p.H26Y	ENST00000210313.3	37	c.76	CCDS6824.1	9	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503111	0.44558	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.32272	1.46;1.56	5.22	5.22	0.72569	.	0.467481	0.25081	N	0.033300	T	0.19287	0.0463	N	0.08118	0	0.09310	N	0.999997	B;B	0.22146	0.044;0.065	B;B	0.29663	0.096;0.105	T	0.21042	-1.0257	10	0.59425	D	0.04	.	12.5916	0.56445	0.0:0.0:0.8342:0.1658	.	26;26	B4DZM8;Q16401	.;PSMD5_HUMAN	Y	26	ENSP00000210313:H26Y;ENSP00000363011:H26Y	ENSP00000210313:H26Y	H	-	1	0	PSMD5	122644933	0.621000	0.27077	0.907000	0.35723	0.359000	0.29487	2.296000	0.43584	2.725000	0.93324	0.655000	0.94253	CAC	PSMD5	-	pfam_26S_Psome_nonATP_su5		0.677	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD5	HGNC	protein_coding	OTTHUMT00000053825.2	G	NM_005047		123605112	-1	no_errors	ENST00000210313	ensembl	human	known	70_37	missense	SNP	0.575	A	A	123605112	G	A	123605112	3	1	153	1	0	0	0	0	1	0	0	0	12728	1290	45	1	1478	1	PSMD5	9	123605112	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3129850	123605112	17608319	658	26632										
OR1J4	26219	genome.wustl.edu	37	chr9	125281687	125281687	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taagcatgcaaactcaggatCaatccattctttatgcaggg	8	9	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:125281687C>T	ENST00000340750.1	+	1	268	c.268C>T	c.(268-270)Caa>Taa	p.Q90*		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AACTCAGGATCAATCCATTCT	0.413																																																	0													239	219	226					9																	125281687		2203	4300	6503	SO:0001587	stop_gained	26219			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"GPCR / Class A : Olfactory receptors"	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.268C>T	9.37:g.125281687C>T	ENSP00000343521:p.Gln90*		A3KFM0|Q6IEZ3|Q96R89	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q90*	ENST00000340750.1	37	c.268	CCDS35122.1	9	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267579	0.23136	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	.	.	.	5.54	3.69	0.42338	.	0.981915	0.08225	U	0.978467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3218	0.15885	0.24:0.6034:0.0:0.1566	.	.	.	.	X	256;90	.	ENSP00000407987:Q256X	Q	+	1	0	OR1J2;OR1J4	124321508	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	1.179000	0.31993	0.891000	0.36235	0.650000	0.86243	CAA	OR1J4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.413	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J4	HGNC	protein_coding	OTTHUMT00000053936.1	C			125281687	1	no_errors	ENST00000340750	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	125281687	C	T	125281687	4	4	153	1	0	0	0	0	0	1	0	0	10985	827	29	1	270	1	OR1J4	9	125281687	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1676575	125281687	15931744	659	26633										
RC3H2	54542	genome.wustl.edu	37	chr9	125613673	125613673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctctaactcgatatccctatCaggtttagtatctgttgcat	6	10	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:125613673C>G	ENST00000373670.1	-	18	3760	c.3160G>C	c.(3160-3162)Gat>Cat	p.D1054H	RC3H2_ENST00000357244.2_Missense_Mutation_p.D1054H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1054					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATATCCCTATCAGGTTTAGTA	0.413																																																	0													115	115	115					9																	125613673		1897	4109	6006	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3160G>C	9.37:g.125613673C>G	ENSP00000362774:p.Asp1054His		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D1054H	ENST00000373670.1	37	c.3160	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373391	0.82573	.	.	ENSG00000056586	ENST00000373670;ENST00000357244	T;T	0.52754	0.65;0.65	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.60591	-0.7233	10	0.72032	D	0.01	-12.5492	17.3358	0.87280	0.0:1.0:0.0:0.0	.	1054	Q9HBD1	RC3H2_HUMAN	H	1054	ENSP00000362774:D1054H;ENSP00000349783:D1054H	ENSP00000349783:D1054H	D	-	1	0	RC3H2	124653494	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.316000	0.59178	2.840000	0.97914	0.655000	0.94253	GAT	RC3H2	-	NULL		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125613673	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125613673	C	G	125613673	3	3	153	1	0	0	0	0	1	0	0	0	13197	826	29	1	427	1	RC3H2	9	125613673	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	331986	125613673	15599758	660	26634										
RC3H2	54542	genome.wustl.edu	37	chr9	125645647	125645647	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taacaccagcttcaaggcctCttcttgcatagctaaaaata	5	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:125645647C>G	ENST00000373670.1	-	4	1195	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	RC3H2_ENST00000357244.2_Missense_Mutation_p.E199Q|RC3H2_ENST00000423239.2_Missense_Mutation_p.E199Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.E199Q|RC3H2_ENST00000373665.2_Missense_Mutation_p.E199Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	199	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCAAGGCCTCTTCTTGCATA	0.403																																																	0													104	95	98					9																	125645647		1881	4111	5992	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.595G>C	9.37:g.125645647C>G	ENSP00000362774:p.Glu199Gln		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.E199Q	ENST00000373670.1	37	c.595	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.263089	0.95399	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	5.83	5.83	0.93111	.	0.049149	0.85682	D	0.000000	D	0.95978	0.8690	L	0.58810	1.83	0.80722	D	1	D;D;D	0.67145	0.996;0.982;0.99	P;P;P	0.57468	0.821;0.628;0.794	D	0.96062	0.9039	10	0.87932	D	0	-31.1697	19.112	0.93319	0.0:1.0:0.0:0.0	.	199;199;199	A6NHN2;Q9HBD1;Q9HBD1-4	.;RC3H2_HUMAN;.	Q	199;199;70;199;199;199	ENSP00000362774:E199Q;ENSP00000349783:E199Q;ENSP00000411767:E199Q;ENSP00000362769:E199Q;ENSP00000335150:E199Q	ENSP00000335150:E199Q	E	-	1	0	RC3H2	124685468	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.756000	0.94617	0.585000	0.79938	GAG	RC3H2	-	NULL		0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125645647	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125645647	C	G	125645647	3	3	153	1	0	0	0	0	1	0	0	0	13197	922	32	1	3126	1	RC3H2	9	125645647	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	31974	125645647	15567784	661	26635										
RPL35	11224	genome.wustl.edu	37	chr9	127622541	127622541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caatggatttccggacgactCggctacaaaacagagatgtc	10	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:127622541C>T	ENST00000348462.3	-	3	191	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	RPL35_ENST00000373570.4_Missense_Mutation_p.R48Q|ARPC5L_ENST00000353214.2_5'Flank	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	48					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		CCGGACGACTCGGCTACAAAA	0.488																																																	0													79	78	79					9																	127622541		2203	4300	6503	SO:0001583	missense	11224			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"L ribosomal proteins"	10344	protein-coding gene	gene with protein product	"60S ribosomal protein L35"					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.143G>A	9.37:g.127622541C>T	ENSP00000259469:p.Arg48Gln		A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29	p.R48Q	ENST00000348462.3	37	c.143	CCDS6858.1	9	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019405	0.54576	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.29	4.38	0.52667	Ribosomal protein L29, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.85197	2.74	0.80722	D	1	B	0.25105	0.118	B	0.28991	0.097	T	0.73030	-0.4111	9	0.54805	T	0.06	.	14.9498	0.71064	0.0:0.8561:0.1439:0.0	.	48	P42766	RL35_HUMAN	Q	48	.	ENSP00000259469:R48Q	R	-	2	0	RPL35	126662362	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.333000	0.79214	1.331000	0.45412	0.561000	0.74099	CGA	RPL35	-	pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29		0.488	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL35	HGNC	protein_coding	OTTHUMT00000054035.1	C	NM_007209		127622541	-1	no_errors	ENST00000348462	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127622541	C	T	127622541	3	4	153	1	0	0	0	0	1	0	0	0	13614	884	31	1	236	1	RPL35	9	127622541	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1976894	127622541	13590890	662	26636										
GOLGA1	2800	genome.wustl.edu	37	chr9	127700957	127700957	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctctgagcaacagcagtctCttctgcaattttcttcttca	5	13	6	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:127700957C>G	ENST00000373555.4	-	3	367	c.34G>C	c.(34-36)Gag>Cag	p.E12Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	12					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ACAGCAGTCTCTTCTGCAATT	0.498																																																	0													130	119	123					9																	127700957		2203	4300	6503	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.34G>C	9.37:g.127700957C>G	ENSP00000362656:p.Glu12Gln		Q5T164|Q8IYZ9	Missense_Mutation	SNP	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.E12Q	ENST00000373555.4	37	c.34	CCDS6860.1	9	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000222	0.93227	.	.	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.18338	2.22;2.22	5.03	5.03	0.67393	.	0.000000	0.43110	U	0.000607	T	0.44117	0.1278	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43180	-0.9407	10	0.87932	D	0	-14.2885	17.7193	0.88345	0.0:1.0:0.0:0.0	.	12	Q92805	GOGA1_HUMAN	Q	12	ENSP00000362656:E12Q;ENSP00000396966:E12Q	ENSP00000362656:E12Q	E	-	1	0	GOLGA1	126740778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.421000	0.80204	2.498000	0.84270	0.557000	0.71058	GAG	GOLGA1	-	NULL		0.498	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	C	NM_002077		127700957	-1	no_errors	ENST00000373555	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127700957	C	G	127700957	3	3	153	1	0	0	0	0	1	0	0	0	6570	922	32	1	2353	1	GOLGA1	9	127700957	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	78416	127700957	13512474	663	26637										
STXBP1	6812	genome.wustl.edu	37	chr9	130438193	130438193	+	Silent	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttatgacaaaatccgcatCatccttctctacatcttttt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:130438193C>T	ENST00000373299.1	+	14	1336	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	STXBP1_ENST00000373302.3_Silent_p.I407I|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	407					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAATCCGCATCATCCTTCTCT	0.498																																																	0													143	104	117					9																	130438193		2203	4300	6503	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1221C>T	9.37:g.130438193C>T			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.I407	ENST00000373299.1	37	c.1221	CCDS35146.1	9																																																																																			STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.498	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	C	NM_003165		130438193	1	no_errors	ENST00000373299	ensembl	human	known	70_37	silent	SNP	1.000	T	T	130438193	C	T	130438193	2	4	153	1	0	0	0	0	0	0	0	1	15382	816	29	1		1	STXBP1	9	130438193	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2737236	130438193	10775238	664	26638	157	2								
STXBP1	6812	genome.wustl.edu	37	chr9	130438202	130438202	+	Silent	SNP	C	C	G													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaatccgcatcatccttctCtacatctttttgaagaatgg							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:130438202C>G	ENST00000373299.1	+	14	1345	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	STXBP1_ENST00000373302.3_Silent_p.L410L|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	410					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCATCCTTCTCTACATCTTTT	0.488																																																	0													125	93	103					9																	130438202		2203	4300	6503	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1230C>G	9.37:g.130438202C>G			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L410	ENST00000373299.1	37	c.1230	CCDS35146.1	9																																																																																			STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	C	NM_003165		130438202	1	no_errors	ENST00000373299	ensembl	human	known	70_37	silent	SNP	1.000	G	G	130438202	C	G	130438202	2	3	153	1	0	0	0	0	0	0	0	1	15382	900	32	1		1	STXBP1	9	130438202	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9	130438202	10775229	665	26639	157	2								
FPGS	2356	genome.wustl.edu	37	chr9	130575577	130575577	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcaggccagcccggacctCtggagtgcccccagcccaga	13	17	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:130575577C>G	ENST00000373247.2	+	15	1508	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	FPGS_ENST00000393706.2_Silent_p.L460L|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Silent_p.L436L|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	486					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GCCCGGACCTCTGGAGTGCCC	0.657																																																	0													41	42	41					9																	130575577		2203	4300	6503	SO:0001819	synonymous_variant	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1458C>G	9.37:g.130575577C>G			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.L486	ENST00000373247.2	37	c.1458	CCDS35148.1	9																																																																																			FPGS	-	tigrfam_Folylpolyglutamate_synth		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	C			130575577	1	no_errors	ENST00000373247	ensembl	human	known	70_37	silent	SNP	0.755	G	G	130575577	C	G	130575577	2	3	153	1	0	0	0	0	0	0	0	1	6054	900	32	1		1	FPGS	9	130575577	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	137375	130575577	10637854	666	26640										
LRRC8A	56262	genome.wustl.edu	37	chr9	131670871	131670871	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcctcaaggagctgtggctCtaccacacagcggccaagat	12	13	2	1	rs139819304	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:131670871C>G	ENST00000259324.5	+	3	1951	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	LRRC8A_ENST00000372599.3_Silent_p.L476L|LRRC8A_ENST00000372600.4_Silent_p.L476L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	476					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCTGTGGCTCTACCACACAG	0.632																																																	0													19	19	19					9																	131670871		2194	4290	6484	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1428C>G	9.37:g.131670871C>G			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L476	ENST00000259324.5	37	c.1428	CCDS35155.1	9																																																																																			LRRC8A	-	NULL		0.632	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	C	NM_019594		131670871	1	no_errors	ENST00000259324	ensembl	human	known	70_37	silent	SNP	1.000	G	G	131670871	C	G	131670871	2	3	153	1	0	0	0	0	0	0	0	1	9044	900	32	1		1	LRRC8A	9	131670871	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1095294	131670871	9542560	667	26641										
NUP188	23511	genome.wustl.edu	37	chr9	131765678	131765678	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggttttattctgcagctctCtaacttcatgaaggagtggc	11	8	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:131765678C>G	ENST00000372577.2	+	38	4400	c.4379C>G	c.(4378-4380)tCt>tGt	p.S1460C	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1460					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGCAGCTCTCTAACTTCATG	0.567																																																	0													127	119	122					9																	131765678		2203	4300	6503	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4379C>G	9.37:g.131765678C>G	ENSP00000361658:p.Ser1460Cys		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.S1460C	ENST00000372577.2	37	c.4379	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503303	0.85176	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.79784	0.894;0.993	T	0.57791	-0.7750	10	0.49607	T	0.09	-14.0018	19.0419	0.93004	0.0:1.0:0.0:0.0	.	793;1460	E9PET9;Q5SRE5	.;NU188_HUMAN	C	1349;1460	ENSP00000361658:S1460C	ENSP00000349125:S1349C	S	+	2	0	NUP188	130805499	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.487000	0.81328	2.758000	0.94735	0.561000	0.74099	TCT	NUP188	-	NULL		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131765678	1	no_errors	ENST00000372577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131765678	C	G	131765678	3	3	153	1	0	0	0	0	1	0	0	0	10782	913	32	1	4529	1	NUP188	9	131765678	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	94807	131765678	9447753	668	26642										
PPP2R4	5524	genome.wustl.edu	37	chr9	131882887	131882887	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggcaaatggaagcgttctCaggtaccatttggaactgtg	13	7	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:131882887C>T	ENST00000337738.1	+	2	394	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	PPP2R4_ENST00000355007.3_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000393370.2_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000347048.4_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000452489.2_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000358994.4_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000348141.5_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000357197.4_Nonsense_Mutation_p.Q43*	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	43					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GAAGCGTTCTCAGGTACCATT	0.493																																					Colon(158;2158 2504 4450 20433)												0													62	63	62					9																	131882887		2203	4300	6503	SO:0001587	stop_gained	5524			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9308	protein-coding gene	gene with protein product	"phosphotyrosyl phosphatase activator", "PP2A phosphatase activator"	600756	"protein phosphatase 2A, regulatory subunit B' (PR 53)"			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.127C>T	9.37:g.131882887C>T	ENSP00000337448:p.Gln43*		A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Nonsense_Mutation	SNP	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	p.Q43*	ENST00000337738.1	37	c.127		9	.	.	.	.	.	.	.	.	.	.	C	38	6.880282	0.97904	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000347048;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000417728;ENST00000453358;ENST00000417504;ENST00000440346	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-28.791	16.631	0.85032	0.0:1.0:0.0:0.0	.	.	.	.	X	43;43;43;43;43;43;43;43;43;43;8;8;60;8	.	ENSP00000337448:Q43X	Q	+	1	0	PPP2R4	130922708	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.251000	0.78297	2.249000	0.74217	0.462000	0.41574	CAG	PPP2R4	-	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac		0.493	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding		C	NM_021131		131882887	1	no_errors	ENST00000452489	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131882887	C	T	131882887	4	4	153	1	0	0	0	0	0	1	0	0	12418	827	29	1	133	1	PPP2R4	9	131882887	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	117209	131882887	9330544	669	26643										
NUP214	8021	genome.wustl.edu	37	chr9	134050876	134050876	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgctagcaaaattattcctCaaggggccgatagcacaatg	9	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:134050876C>T	ENST00000359428.5	+	23	3331	c.3187C>T	c.(3187-3189)Caa>Taa	p.Q1063*	NUP214_ENST00000411637.2_Nonsense_Mutation_p.Q1053*|NUP214_ENST00000451030.1_Nonsense_Mutation_p.Q1064*			P35658	NU214_HUMAN	nucleoporin 214kDa	1063	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AATTATTCCTCAAGGGGCCGA	0.478			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													52	53	53					9																	134050876		2203	4300	6503	SO:0001587	stop_gained	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3187C>T	9.37:g.134050876C>T	ENSP00000352400:p.Gln1063*		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Nonsense_Mutation	SNP	smart_WD40_repeat	p.Q1064*	ENST00000359428.5	37	c.3190	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.679296	0.96774	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	.	.	.	5.92	5.92	0.95590	.	0.000000	0.41001	D	0.000972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.3984	19.3088	0.94175	0.0:1.0:0.0:0.0	.	.	.	.	X	1063;1053;1064;1052;657;492	.	ENSP00000352400:Q1063X	Q	+	1	0	NUP214	133040697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.113000	0.41902	2.813000	0.96785	0.561000	0.74099	CAA	NUP214	-	NULL		0.478	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	C	NM_005085		134050876	1	no_errors	ENST00000451030	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	134050876	C	T	134050876	4	4	153	1	0	0	0	0	0	1	0	0	10786	827	29	1	3277	1	NUP214	9	134050876	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2167989	134050876	7162555	670	26644										
RALGDS	5900	genome.wustl.edu	37	chr9	135979179	135979179	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccagcatcaccaggtcggtGaggaacgtgcccaggtaggg	15	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:135979179G>A	ENST00000372050.3	-	11	1734	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	RALGDS_ENST00000372047.3_Silent_p.L559L|RALGDS_ENST00000372062.3_Silent_p.L542L|RALGDS_ENST00000542690.1_Silent_p.L642L|RALGDS_ENST00000393160.3_Silent_p.L516L|RALGDS_ENST00000393157.3_Silent_p.L570L|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	571	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCAGGTCGGTGAGGAACGTGC	0.622			T	CIITA	"PMBL, Hodgkin Lymphona, "						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													127	101	110					9																	135979179		2203	4300	6503	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1713C>T	9.37:g.135979179G>A		1622	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L642	ENST00000372050.3	37	c.1926	CCDS6959.1	9																																																																																			RALGDS	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.622	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	G	NM_006266		135979179	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	silent	SNP	1.000	A	A	135979179	G	A	135979179	2	1	153	1	0	0	0	0	0	0	0	1	13046	1277	45	1		1	RALGDS	9	135979179	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1928303	135979179	5234252	671	26645										
MED22	6837	genome.wustl.edu	37	chr9	136212068	136212068	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catctcgtaattgtcctgttCaccctgagtggcccgtgaca	9	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:136212068C>T	ENST00000491289.1	-	3	744	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MED22_ENST00000344469.5_Missense_Mutation_p.E55K|MED22_ENST00000343730.5_Missense_Mutation_p.E55K|MED22_ENST00000371999.1_Missense_Mutation_p.E55K|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Missense_Mutation_p.E55K			Q15528	MED22_HUMAN	mediator complex subunit 22	55						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TTGTCCTGTTCACCCTGAGTG	0.597																																																	0													138	93	108					9																	136212068		2203	4300	6503	SO:0001583	missense	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.163G>A	9.37:g.136212068C>T	ENSP00000420393:p.Glu55Lys		B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	pfam_Mediator_Med22	p.E55K	ENST00000491289.1	37	c.163	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533698	0.45073	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	4.41	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.80028	2.48	0.80722	D	1	B;B	0.20368	0.044;0.007	B;B	0.20955	0.032;0.03	T	0.60525	-0.7246	9	0.42905	T	0.14	0.0179	10.7985	0.46474	0.0:0.9057:0.0:0.0943	.	55;55	Q15528-2;Q15528	.;MED22_HUMAN	K	55	.	ENSP00000342343:E55K	E	-	1	0	MED22	135201889	1.000000	0.71417	0.924000	0.36721	0.935000	0.57460	7.719000	0.84751	0.848000	0.35191	0.462000	0.41574	GAA	MED22	-	pfam_Mediator_Med22		0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	C	NM_133640		136212068	-1	no_errors	ENST00000343730	ensembl	human	known	70_37	missense	SNP	0.997	T	T	136212068	C	T	136212068	3	4	153	1	0	0	0	0	1	0	0	0	9463	835	29	1	461	1	MED22	9	136212068	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	232889	136212068	5001363	672	26646										
RPL7A	6130	genome.wustl.edu	37	chr9	136215803	136215803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaaagaaggccaagggaaaGaaggtggctccggccccagc	16	10	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:136215803G>C	ENST00000323345.6	+	2	60	c.30G>C	c.(28-30)aaG>aaC	p.K10N	MED22_ENST00000344469.5_5'Flank|SURF1_ENST00000495952.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_5'UTR|MED22_ENST00000491289.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000343730.5_5'Flank|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CCAAGGGAAAGAAGGTGGCTC	0.547																																																	0													45	50	48					9																	136215803		2203	4300	6503	SO:0001583	missense	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.30G>C	9.37:g.136215803G>C	ENSP00000361076:p.Lys10Asn		P11518|Q5T8U4	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.K10N	ENST00000323345.6	37	c.30	CCDS6965.1	9	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157860	0.57368	.	.	ENSG00000148303	ENST00000323345;ENST00000426651	T;T	0.60920	0.15;0.47	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.79011	2.435	0.80722	D	1	P	0.51653	0.947	D	0.67231	0.95	T	0.79674	-0.1705	10	0.66056	D	0.02	.	15.9344	0.79691	0.0:0.0:1.0:0.0	.	10	P62424	RL7A_HUMAN	N	10;37	ENSP00000361076:K10N;ENSP00000416638:K37N	ENSP00000361076:K10N	K	+	3	2	RPL7A	135205624	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.036000	0.93758	2.009000	0.58944	0.313000	0.20887	AAG	RPL7A	-	NULL		0.547	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	G	NM_000972		136215803	1	no_errors	ENST00000323345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136215803	G	C	136215803	3	2	153	1	0	0	0	0	1	0	0	0	13630	933	33	1	36	1	RPL7A	9	136215803	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3735	136215803	4997628	673	26647										
COL5A1	1289	genome.wustl.edu	37	chr9	137622308	137622308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccagcaccgccgacacctCcaactcctccaatgtaattt	4	18	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:137622308C>G	ENST00000371817.3	+	7	1565	c.1151C>G	c.(1150-1152)tCc>tGc	p.S384C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	384	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGACACCTCCAACTCCTCC	0.607																																																	0													58	58	58					9																	137622308		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1151C>G	9.37:g.137622308C>G	ENSP00000360882:p.Ser384Cys		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S384C	ENST00000371817.3	37	c.1151	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	5.311	0.242830	0.10077	.	.	ENSG00000130635	ENST00000371817	D	0.90004	-2.6	4.33	4.33	0.51752	.	1.875000	0.02840	U	0.127841	D	0.87346	0.6154	L	0.44542	1.39	0.24288	N	0.995171	B	0.22480	0.07	B	0.30179	0.112	T	0.72852	-0.4167	10	0.59425	D	0.04	.	7.6242	0.28202	0.2335:0.6145:0.152:0.0	.	384	P20908	CO5A1_HUMAN	C	384	ENSP00000360882:S384C	ENSP00000360882:S384C	S	+	2	0	COL5A1	136762129	0.349000	0.24870	0.079000	0.20413	0.004000	0.04260	0.379000	0.20585	1.954000	0.56735	0.563000	0.77884	TCC	COL5A1	-	NULL		0.607	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	C	NM_000093		137622308	1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	0.715	G	G	137622308	C	G	137622308	3	3	153	1	0	0	0	0	1	0	0	0	3701	855	30	1	1177	1	COL5A1	9	137622308	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1406505	137622308	3591123	674	26648										
KCNT1	57582	genome.wustl.edu	37	chr9	138662821	138662821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctacatcaacatcaccaagGaggagaactcggccttcatc	7	13	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:138662821G>A	ENST00000263604.3	+	18	1831	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	KCNT1_ENST00000491806.2_Missense_Mutation_p.E597K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E585K|KCNT1_ENST00000298480.5_Missense_Mutation_p.E630K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E630K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E611K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E591K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E611K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	611					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.E631delE(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATCACCAAGGAGGAGAACTC	0.642																																																	1	Deletion - In frame(1)	large_intestine(1)											63	54	57					9																	138662821		2203	4300	6503	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1831G>A	9.37:g.138662821G>A	ENSP00000263604:p.Glu611Lys		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.E630K	ENST00000263604.3	37	c.1888		9	.	.	.	.	.	.	.	.	.	.	G	31	5.103643	0.94245	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.34667	1.38;1.37;1.37;1.35	3.88	3.88	0.44766	.	0.000000	0.85682	U	0.000000	T	0.65291	0.2677	M	0.89478	3.035	0.80722	D	1	D;D;D;P	0.89917	0.998;0.999;1.0;0.936	D;D;D;P	0.87578	0.982;0.993;0.998;0.871	T	0.72337	-0.4324	10	0.45353	T	0.12	-25.2627	16.0316	0.80582	0.0:0.0:1.0:0.0	.	597;630;585;611	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	K	585;630;630;591;597;611;611;611	ENSP00000417851:E585K;ENSP00000298480:E630K;ENSP00000360822:E630K;ENSP00000263604:E611K	ENSP00000263604:E611K	E	+	1	0	KCNT1	137802642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.253000	0.95501	1.996000	0.58369	0.467000	0.42956	GAG	KCNT1	-	NULL		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		G	NM_020822		138662821	1	no_errors	ENST00000298480	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138662821	G	A	138662821	3	1	153	1	0	0	0	0	1	0	0	0	8111	1175	41	1	1958	1	KCNT1	9	138662821	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1040513	138662821	2550610	675	26649										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138714509	138714509	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccactgacagtggtcctgtCtcggtggggtcgatgcccat	13	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:138714509C>G	ENST00000389532.4	-	11	2062	c.1998G>C	c.(1996-1998)gaG>gaC	p.E666D	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677D|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388D|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGGTCCTGTCTCGGTGGGGT	0.577																																																	0													48	51	50					9																	138714509		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1998G>C	9.37:g.138714509C>G	ENSP00000374183:p.Glu666Asp		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E677D	ENST00000389532.4	37	c.2031	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341704	0.24339	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15139	2.46;2.45;2.46	5.03	3.0	0.34707	.	1.161590	0.06569	N	0.748121	T	0.10208	0.0250	N	0.14661	0.345	0.28124	N	0.930494	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.29792	-1.0000	10	0.87932	D	0	-4.9181	2.3345	0.04244	0.3033:0.3699:0.2316:0.0952	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	D	666;388;677	ENSP00000374183:E666D;ENSP00000312463:E388D;ENSP00000386420:E677D	ENSP00000312463:E388D	E	-	3	2	CAMSAP1	137854330	0.025000	0.19082	0.174000	0.22961	0.005000	0.04900	0.358000	0.20216	1.106000	0.41623	-0.136000	0.14681	GAG	CAMSAP1	-	NULL		0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	C	XM_351857		138714509	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.688	G	G	138714509	C	G	138714509	3	3	153	1	0	0	0	0	1	0	0	0	2616	912	32	1	2838	1	CAMSAP1	9	138714509	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	51688	138714509	2498922	676	26650										
LCN8	138307	genome.wustl.edu	37	chr9	139649782	139649782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtccttgtcctcaaggctcCgagctgtggggcacaggggg	17	11	1	0	rs572429888	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139649782C>T	ENST00000371688.3	-	5	630	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	135					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CTCAAGGCTCCGAGCTGTGGG	0.672													C|||	2	0.000399361	0	0	5008	,	,		16240	0		0	False		,,,				2504	0.002																0													28	36	33					9																	139649782		2203	4300	6503	SO:0001583	missense	138307			AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"Lipocalins"	27038	protein-coding gene	gene with protein product		612902	"chromosome 9 open reading frame 137", "lipocalin 5"	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.335G>A	9.37:g.139649782C>T	ENSP00000360753:p.Arg112Gln		A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.R112Q	ENST00000371688.3	37	c.335	CCDS35183.1	9	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354379	0.61293	.	.	ENSG00000204001	ENST00000371688	T	0.37584	1.19	2.83	2.83	0.33086	.	.	.	.	.	T	0.53834	0.1821	M	0.62723	1.935	0.27457	N	0.953271	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	9	0.87932	D	0	.	9.3324	0.38030	0.0:1.0:0.0:0.0	.	112	Q6JVE9-2	.	Q	112	ENSP00000360753:R112Q	ENSP00000360753:R112Q	R	-	2	0	LCN8	138769603	0.213000	0.23551	0.813000	0.32504	0.538000	0.34931	0.797000	0.26999	1.888000	0.54679	0.491000	0.48974	CGG	LCN8	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.672	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN8	HGNC	protein_coding	OTTHUMT00000055109.1	C	NM_178469		139649782	-1	no_errors	ENST00000371688	ensembl	human	known	70_37	missense	SNP	0.861	T	T	139649782	C	T	139649782	3	4	153	1	0	0	0	0	1	0	0	0	8706	652	23	2	135	2	LCN8	9	139649782	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	935273	139649782	1563649	677	26651										
KIAA1984	84960	genome.wustl.edu	37	chr9	139700619	139700619	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaggagtggcgggtgcagctGaaggccctggtgaagcagct	19	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139700619G>A	ENST00000338005.6	+	10	1073	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		346										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGGTGCAGCTGAAGGCCCTGG	0.657																																																	0													25	35	32					9																	139700619		2054	4179	6233	SO:0001819	synonymous_variant	84960																														ENST00000338005.6:c.1038G>A	9.37:g.139700619G>A			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.L346	ENST00000338005.6	37	c.1038	CCDS43906.1	9																																																																																			KIAA1984	-	NULL		0.657	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139700619	1	no_errors	ENST00000338005	ensembl	human	known	70_37	silent	SNP	0.651	A	A	139700619	G	A	139700619	2	1	153	1	0	0	0	0	0	0	0	1	8286	1277	45	1		1	KIAA1984	9	139700619	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	50837	139700619	1512812	678	26652										
KIAA1984	84960	genome.wustl.edu	37	chr9	139700649	139700649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgaagcagctggagctggaGgaggccgtgctcaagttccg	17	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139700649G>A	ENST00000338005.6	+	10	1103	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		356										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		TGGAGCTGGAGGAGGCCGTGC	0.667																																																	0													33	43	40					9																	139700649		2076	4206	6282	SO:0001819	synonymous_variant	84960																														ENST00000338005.6:c.1068G>A	9.37:g.139700649G>A			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.E356	ENST00000338005.6	37	c.1068	CCDS43906.1	9																																																																																			KIAA1984	-	NULL		0.667	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139700649	1	no_errors	ENST00000338005	ensembl	human	known	70_37	silent	SNP	0.957	A	A	139700649	G	A	139700649	2	1	153	1	0	0	0	0	0	0	0	1	8286	991	35	4		4	KIAA1984	9	139700649	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	30	139700649	1512782	679	26653										
KIAA1984	84960	genome.wustl.edu	37	chr9	139701034	139701034	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagctggcgcacagcaacatGaccaagggccaggagctgct	13	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139701034G>A	ENST00000338005.6	+	11	1223	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		396										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACAGCAACATGACCAAGGGCC	0.547																																																	0													39	47	45					9																	139701034		2113	4234	6347	SO:0001583	missense	84960																														ENST00000338005.6:c.1188G>A	9.37:g.139701034G>A	ENSP00000338013:p.Met396Ile		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.M396I	ENST00000338005.6	37	c.1188	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	7.889	0.731801	0.15507	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.12465	2.68	4.68	3.77	0.43336	.	.	.	.	.	T	0.13841	0.0335	L	0.56769	1.78	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.04621	-1.0938	9	0.23302	T	0.38	-16.9121	10.5654	0.45169	0.0:0.0:0.8073:0.1927	.	396	Q5T5S1	K1984_HUMAN	I	396	ENSP00000338013:M396I	ENSP00000338013:M396I	M	+	3	0	KIAA1984	138820855	0.014000	0.17966	0.502000	0.27614	0.153000	0.21895	1.803000	0.38863	1.069000	0.40788	0.491000	0.48974	ATG	KIAA1984	-	NULL		0.547	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139701034	1	no_errors	ENST00000338005	ensembl	human	known	70_37	missense	SNP	0.816	A	A	139701034	G	A	139701034	3	1	153	1	0	0	0	0	1	0	0	0	8286	1290	45	1	1230	1	KIAA1984	9	139701034	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	385	139701034	1512397	680	26654										
ZMYND11	10771	genome.wustl.edu	37	chr10	267251	267251	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagtgtttgtctgatgagttCaggcttagagacagcagtag	13	5	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:267251C>G	ENST00000397962.3	+	4	821	c.393C>G	c.(391-393)ttC>ttG	p.F131L	ZMYND11_ENST00000381584.1_Missense_Mutation_p.F114L|ZMYND11_ENST00000381602.4_Missense_Mutation_p.F91L|ZMYND11_ENST00000381604.4_Missense_Mutation_p.F91L|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000509513.2_Missense_Mutation_p.F131L|ZMYND11_ENST00000381591.1_Missense_Mutation_p.F131L|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000402736.1_Missense_Mutation_p.F131L|ZMYND11_ENST00000309776.4_Missense_Mutation_p.F91L|ZMYND11_ENST00000558098.2_Missense_Mutation_p.F131L|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000545619.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	131					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGAGTTCAGGCTTAGAG	0.443																																																	0													284	246	259					10																	267251		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.393C>G	10.37:g.267251C>G	ENSP00000381053:p.Phe131Leu		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.F131L	ENST00000397962.3	37	c.393	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343457	0.24339	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000381591;ENST00000402736;ENST00000381604;ENST00000397955;ENST00000381584	D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.65	5.65	0.86999	.	0.162302	0.56097	D	0.000029	T	0.54240	0.1846	N	0.00155	-1.965	0.52501	D	0.999955	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.63161	-0.6699	9	0.10902	T	0.67	-14.5917	14.5518	0.68073	0.1463:0.8537:0.0:0.0	.	131;131;91;131	Q2LD45;Q2LD48;B0QZE3;E7ENI9	.;.;.;.	L	131;91;91;131;131;131;91;146;114	ENSP00000381053:F131L;ENSP00000309992:F91L;ENSP00000371015:F91L;ENSP00000424205:F131L;ENSP00000371003:F131L;ENSP00000386010:F131L;ENSP00000371017:F91L;ENSP00000381046:F146L;ENSP00000370996:F114L	ENSP00000309992:F91L	F	+	3	2	ZMYND11	257251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.510000	0.60455	2.647000	0.89833	0.655000	0.94253	TTC	ZMYND11	-	superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.443	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	C	NM_006624		267251	1	no_errors	ENST00000381591	ensembl	human	known	70_37	missense	SNP	1.000	G	G	267251	C	G	267251	3	3	153	1	0	0	0	0	1	0	0	0	17736	825	29	1	403	1	ZMYND11	10	267251	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		267251	135267496	681	26655										
ITIH2	3698	genome.wustl.edu	37	chr10	7769676	7769676	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttcaacaggcacaaacatCaacgaagcactcctacgggc	7	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:7769676C>G	ENST00000358415.4	+	11	1330	c.1164C>G	c.(1162-1164)atC>atG	p.I388M	ITIH2_ENST00000379587.4_Missense_Mutation_p.I377M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	388	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCACAAACATCAACGAAGCAC	0.453																																																	0													176	140	152					10																	7769676		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1164C>G	10.37:g.7769676C>G	ENSP00000351190:p.Ile388Met		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I388M	ENST00000358415.4	37	c.1164	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270431	0.40194	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	D;D	0.85171	-1.95;-1.95	4.77	2.41	0.29592	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.67397	2.05	0.51482	D	0.999929	D	0.89917	1.0	D	0.97110	1.0	D	0.88441	0.3042	10	0.87932	D	0	-29.8102	7.9817	0.30188	0.0:0.6778:0.0:0.3222	.	388	P19823	ITIH2_HUMAN	M	388;377	ENSP00000351190:I388M;ENSP00000368906:I377M	ENSP00000351190:I388M	I	+	3	3	ITIH2	7809682	1.000000	0.71417	0.997000	0.53966	0.390000	0.30446	2.410000	0.44592	1.076000	0.40961	0.551000	0.68910	ATC	ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	C	NM_002216		7769676	1	no_errors	ENST00000358415	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7769676	C	G	7769676	3	3	153	1	0	0	0	0	1	0	0	0	7924	816	29	1	1206	1	ITIH2	10	7769676	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7502425	7769676	127765071	682	26656										
TAF3	83860	genome.wustl.edu	37	chr10	7860774	7860774	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcagcgcctgccacctcctCacggacgtgctgcagcgcta	10	18	2	0	rs375942507	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:7860774C>G	ENST00000344293.5	+	1	308	c.102C>G	c.(100-102)ctC>ctG	p.L34L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	34					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCACCTCCTCACGGACGTGC	0.677													C|||	4	0.000798722	0	0	5008	,	,		15433	0.003		0	False		,,,				2504	0.001																0													14	19	18					10																	7860774		1950	4124	6074	SO:0001819	synonymous_variant	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.102C>G	10.37:g.7860774C>G			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L34	ENST00000344293.5	37	c.102	CCDS41487.1	10																																																																																			TAF3	-	pfam_BTP,superfamily_Histone-fold,smart_BTP		0.677	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	C	NM_031923		7860774	1	no_errors	ENST00000344293	ensembl	human	known	70_37	silent	SNP	1.000	G	G	7860774	C	G	7860774	2	3	153	1	0	0	0	0	0	0	0	1	15555	813	29	1		1	TAF3	10	7860774	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	91098	7860774	127673973	683	26657										
TAF3	83860	genome.wustl.edu	37	chr10	8006327	8006327	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccaggacagaagactaaatCacctaaaaccgcccagtcac	6	14	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:8006327C>G	ENST00000344293.5	+	3	1060	c.854C>G	c.(853-855)tCa>tGa	p.S285*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	285					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGACTAAATCACCTAAAACC	0.418																																																	0													88	83	84					10																	8006327		1867	4099	5966	SO:0001587	stop_gained	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.854C>G	10.37:g.8006327C>G	ENSP00000340271:p.Ser285*		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S285*	ENST00000344293.5	37	c.854	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.993810	0.97987	.	.	ENSG00000165632	ENST00000344293	.	.	.	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.776	19.5287	0.95219	0.0:1.0:0.0:0.0	.	.	.	.	X	285	.	ENSP00000340271:S285X	S	+	2	0	TAF3	8046333	0.998000	0.40836	0.968000	0.41197	0.981000	0.71138	3.608000	0.54109	2.627000	0.88993	0.655000	0.94253	TCA	TAF3	-	NULL		0.418	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	C	NM_031923		8006327	1	no_errors	ENST00000344293	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	8006327	C	G	8006327	4	3	153	1	0	0	0	0	0	1	0	0	15555	838	29	1	864	1	TAF3	10	8006327	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	145553	8006327	127528420	684	26658										
UPF2	26019	genome.wustl.edu	37	chr10	12077300	12077300	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccttcttggcagtgagcttGatatcgtcttttggcctctc	9	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:12077300G>C	ENST00000356352.2	-	1	596	c.123C>G	c.(121-123)atC>atG	p.I41M	UPF2_ENST00000397053.2_Missense_Mutation_p.I41M|UPF2_ENST00000357604.5_Missense_Mutation_p.I41M|UPF2_ENST00000460569.1_5'UTR			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	41	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAGTGAGCTTGATATCGTCTT	0.448																																																	0													241	207	219					10																	12077300		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.123C>G	10.37:g.12077300G>C	ENSP00000348708:p.Ile41Met		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.I41M	ENST00000356352.2	37	c.123	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139562	0.21205	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.45276	0.9;0.9;0.9	5.78	4.88	0.63580	.	0.557324	0.20301	N	0.095024	T	0.26557	0.0649	N	0.19112	0.55	0.22305	N	0.999217	B	0.16603	0.018	B	0.15870	0.014	T	0.13150	-1.0520	10	0.48119	T	0.1	.	7.1862	0.25801	0.0667:0.1229:0.683:0.1273	.	41	Q9HAU5	RENT2_HUMAN	M	41	ENSP00000348708:I41M;ENSP00000350221:I41M;ENSP00000380244:I41M	ENSP00000313617:I41M	I	-	3	3	UPF2	12117306	1.000000	0.71417	0.998000	0.56505	0.251000	0.25915	2.496000	0.45346	1.592000	0.50018	-0.216000	0.12614	ATC	UPF2	-	NULL		0.448	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	G			12077300	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12077300	G	C	12077300	3	2	153	1	0	0	0	0	1	0	0	0	17035	1280	45	1	3779	1	UPF2	10	12077300	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4070973	12077300	123457447	685	26659										
FAM107B	83641	genome.wustl.edu	37	chr10	14709640	14709640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatgtactctacctgatgtCattttctgctccagctcgag	8	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:14709640C>T	ENST00000181796.2	-	2	695	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACCTGATGTCATTTTCTGCT	0.438																																																	0													145	134	137					10																	14709640		2203	4300	6503	SO:0001583	missense	83641			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.462G>A	10.37:g.14709640C>T	ENSP00000181796:p.Met154Ile		A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	pfam_DUF1151	p.M154I	ENST00000181796.2	37	c.462	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431834	0.12045	.	.	ENSG00000065809	ENST00000181796	T	0.44083	0.93	4.52	3.54	0.40534	.	0.778447	0.11835	N	0.524835	T	0.26122	0.0637	N	0.19112	0.55	0.19300	N	0.999973	B	0.21606	0.058	B	0.16722	0.016	T	0.06373	-1.0830	10	0.22109	T	0.4	.	9.2646	0.37634	0.215:0.785:0.0:0.0	.	154	Q9H098-2	.	I	154	ENSP00000181796:M154I	ENSP00000181796:M154I	M	-	3	0	FAM107B	14749646	0.000000	0.05858	0.018000	0.16275	0.015000	0.08874	0.700000	0.25601	2.518000	0.84900	0.555000	0.69702	ATG	FAM107B	-	NULL		0.438	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	C	NM_031453		14709640	-1	no_errors	ENST00000181796	ensembl	human	known	70_37	missense	SNP	0.013	T	T	14709640	C	T	14709640	3	4	153	1	0	0	0	0	1	0	0	0	5405	826	29	1	474	1	FAM107B	10	14709640	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2632340	14709640	120825107	686	26660										
VIM	7431	genome.wustl.edu	37	chr10	17271880	17271880	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggggacctctacgaggaggaGatgcgggagctgcgccggca	19	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:17271880G>C	ENST00000224237.5	+	1	604	c.459G>C	c.(457-459)gaG>gaC	p.E153D	VIM-AS1_ENST00000437232.1_RNA|VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.E153D			P08670	VIME_HUMAN	vimentin	153	Linker 1.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGAGGAGGAGATGCGGGAGC	0.657																																																	0													20	21	21					10																	17271880		2198	4298	6496	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.459G>C	10.37:g.17271880G>C	ENSP00000224237:p.Glu153Asp		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E153D	ENST00000224237.5	37	c.459	CCDS7120.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.070996	0.93950	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.90324	-2.65;-2.65	5.14	4.23	0.50019	Filament (1);	0.000000	0.47093	D	0.000248	D	0.95382	0.8501	M	0.92169	3.28	0.80722	D	1	B;B;D;D;B	0.63880	0.347;0.174;0.971;0.993;0.347	B;B;P;P;B	0.60541	0.241;0.09;0.791;0.876;0.241	D	0.94974	0.8119	10	0.38643	T	0.18	.	13.3832	0.60780	0.0764:0.0:0.9236:0.0	.	153;140;140;153;153	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	D	153;153;140	ENSP00000446007:E153D;ENSP00000224237:E153D	ENSP00000224237:E153D	E	+	3	2	VIM	17311886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.677000	0.74503	1.161000	0.42604	0.551000	0.68910	GAG	VIM	-	pfam_F		0.657	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	G	NM_003380		17271880	1	no_errors	ENST00000224237	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17271880	G	C	17271880	3	2	153	1	0	0	0	0	1	0	0	0	17197	933	33	1	461	1	VIM	10	17271880	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2562240	17271880	118262867	687	26661										
STAM	8027	genome.wustl.edu	37	chr10	17738856	17738856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgactgcagatctcactgctGaaccagaaatgagtaagtat	9	8	1	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:17738856G>A	ENST00000377524.3	+	8	1026	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	STAM_ENST00000540523.1_Missense_Mutation_p.E160K|RP11-390B4.3_ENST00000445235.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	271					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTCACTGCTGAACCAGAAAT	0.368																																																	0													114	100	105					10																	17738856		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.811G>A	10.37:g.17738856G>A	ENSP00000366746:p.Glu271Lys		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.E271K	ENST00000377524.3	37	c.811	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.907090	0.97093	.	.	ENSG00000136738	ENST00000377524;ENST00000377500;ENST00000540523	T;T	0.49720	1.18;0.77	6.16	6.16	0.99307	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.67345	-0.5694	10	0.52906	T	0.07	-31.9394	20.4549	0.99139	0.0:0.0:1.0:0.0	.	271	Q92783	STAM1_HUMAN	K	271;174;160	ENSP00000366746:E271K;ENSP00000438073:E160K	ENSP00000366721:E174K	E	+	1	0	STAM	17778862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.748000	0.98867	2.937000	0.99478	0.650000	0.86243	GAA	STAM	-	superfamily_SH3_domain		0.368	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	G	NM_003473		17738856	1	no_errors	ENST00000377524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17738856	G	A	17738856	3	1	153	1	0	0	0	0	1	0	0	0	15278	1291	45	1	841	1	STAM	10	17738856	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	466976	17738856	117795891	688	26662										
KIF5B	3799	genome.wustl.edu	37	chr10	32326243	32326243	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagcttttgttccgtttgtGtgttctcttgtttgacatta	8	7	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:32326243G>C	ENST00000302418.4	-	8	1107	c.650C>G	c.(649-651)aCa>aGa	p.T217R		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	217	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTCCGTTTGTGTGTTCTCTTG	0.313			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													130	113	118					10																	32326243		2202	4299	6501	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.650C>G	10.37:g.32326243G>C	ENSP00000307078:p.Thr217Arg		A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T217R	ENST00000302418.4	37	c.650	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815793	0.50527	.	.	ENSG00000170759	ENST00000302418	T	0.74737	-0.87	5.0	5.0	0.66597	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	L	0.39326	1.205	0.58432	D	0.999995	P	0.41748	0.761	B	0.43052	0.406	T	0.73745	-0.3886	10	0.46703	T	0.11	.	18.6607	0.91471	0.0:0.0:1.0:0.0	.	217	P33176	KINH_HUMAN	R	217	ENSP00000307078:T217R	ENSP00000307078:T217R	T	-	2	0	KIF5B	32366249	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.146000	0.58072	2.449000	0.82847	0.557000	0.71058	ACA	KIF5B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.313	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	G	NM_004521		32326243	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32326243	G	C	32326243	3	2	153	1	0	0	0	0	1	0	0	0	8326	1377	48	4	2313	4	KIF5B	10	32326243	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	14587387	32326243	103208504	689	26663										
CUL2	8453	genome.wustl.edu	37	chr10	35328007	35328007	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcatcttttaatctacctaGaacctataaaaatattttct	1	8	4	1	rs1131504		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:35328007G>A	ENST00000374748.1	-	10	1031	c.718C>T	c.(718-720)Cta>Tta	p.L240L	CUL2_ENST00000374751.3_Silent_p.L240L|CUL2_ENST00000374746.1_Silent_p.L240L|CUL2_ENST00000374749.3_Silent_p.L240L|CUL2_ENST00000374742.1_Silent_p.L240L|CUL2_ENST00000602371.1_Silent_p.L183L|CUL2_ENST00000537177.1_Silent_p.L259L			Q13617	CUL2_HUMAN	cullin 2	240					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AATCTACCTAGAACCTATAAA	0.318																																																	0													64	61	62					10																	35328007		2202	4294	6496	SO:0001819	synonymous_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.718C>T	10.37:g.35328007G>A			B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L259	ENST00000374748.1	37	c.775	CCDS7179.1	10																																																																																			CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	G	NM_003591		35328007	-1	no_errors	ENST00000537177	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35328007	G	A	35328007	2	1	153	1	0	0	0	0	0	0	0	1	4060	933	33	1		1	CUL2	10	35328007	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3001764	35328007	100206740	690	26664										
CREM	1390	genome.wustl.edu	37	chr10	35456683	35456683	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catcagcataatctatgtttCaggcgtcctatagaagagga	9	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:35456683C>T	ENST00000395895.2	+	4	330				CREM_ENST00000474362.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000361599.4_Silent_p.F10F|CREM_ENST00000484283.1_Silent_p.F10F|CREM_ENST00000374726.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000395887.3_Silent_p.F10F|CREM_ENST00000354759.3_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000374734.3_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						ATCTATGTTTCAGGCGTCCTA	0.378																																																	0													195	191	193					10																	35456683		2203	4300	6503	SO:0001627	intron_variant	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"basic leucine zipper proteins"	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.169-8098C>T	10.37:g.35456683C>T			A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.F10	ENST00000395895.2	37	c.30		10																																																																																			CREM	-	NULL		0.378	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		C	NM_001881		35456683	1	no_errors	ENST00000395887	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35456683	C	T	35456683	1	4	153	0	1	0	0	0	0	0	0	0	3873	825	29	1		1	CREM	10	35456683	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	128676	35456683	100078064	691	26665										
ZNF248	57209	genome.wustl.edu	37	chr10	38120890	38120890	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttcccacatgcattacattCatagggcttctcccctgtgt	6	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:38120890C>G	ENST00000395867.3	-	6	1943	c.1393G>C	c.(1393-1395)Gaa>Caa	p.E465Q	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.E465Q|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCATTACATTCATAGGGCTTC	0.438																																																	0													143	137	139					10																	38120890		2203	4300	6503	SO:0001583	missense	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1393G>C	10.37:g.38120890C>G	ENSP00000379208:p.Glu465Gln		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E465Q	ENST00000395867.3	37	c.1393	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739902	0.30865	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.20200	2.09;2.09	4.44	3.53	0.40419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.261428	0.27518	N	0.019005	T	0.11281	0.0275	N	0.05487	-0.04	0.26580	N	0.97341	B	0.27286	0.174	B	0.34722	0.188	T	0.15435	-1.0437	10	0.46703	T	0.11	.	5.8157	0.18492	0.1896:0.7105:0.0:0.1	.	465	Q8NDW4	ZN248_HUMAN	Q	465	ENSP00000379208:E465Q;ENSP00000349882:E465Q	ENSP00000349882:E465Q	E	-	1	0	ZNF248	38160896	0.000000	0.05858	1.000000	0.80357	0.663000	0.39108	-1.656000	0.01980	1.216000	0.43427	-0.157000	0.13467	GAA	ZNF248	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	C	NM_021045		38120890	-1	no_errors	ENST00000357328	ensembl	human	known	70_37	missense	SNP	0.978	G	G	38120890	C	G	38120890	3	3	153	1	0	0	0	0	1	0	0	0	17823	835	29	1	350	1	ZNF248	10	38120890	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2664207	38120890	97413857	692	26666										
ZNF33A	7581	genome.wustl.edu	37	chr10	38344896	38344896	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctatgaatgtaatgaatgtgGaaaagccttctaccagaagt	9	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:38344896G>C	ENST00000458705.2	+	5	1999	c.1841G>C	c.(1840-1842)gGa>gCa	p.G614A	ZNF33A_ENST00000307441.9_Missense_Mutation_p.G614A|ZNF33A_ENST00000432900.2_Missense_Mutation_p.G621A|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.G615A			Q06730	ZN33A_HUMAN	zinc finger protein 33A	614			G -> R (in dbSNP:rs12256916).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATGAATGTGGAAAAGCCTTC	0.363																																																	0													75	74	75					10																	38344896		2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1841G>C	10.37:g.38344896G>C	ENSP00000387713:p.Gly614Ala		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G621A	ENST00000458705.2	37	c.1862	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903689	0.33628	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.01464	4.86;4.86;4.86;4.86	1.69	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34386	N	0.004010	T	0.06325	0.0163	M	0.74467	2.265	0.26893	N	0.967283	D;D;D	0.76494	0.993;0.995;0.999	P;P;D	0.68621	0.819;0.888;0.959	T	0.09015	-1.0694	10	0.72032	D	0.01	.	4.1167	0.10084	0.2263:0.0:0.7736:0.0	.	621;614;615	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	A	615;621;614;614	ENSP00000363747:G615A;ENSP00000402467:G621A;ENSP00000387713:G614A;ENSP00000304268:G614A	ENSP00000304268:G614A	G	+	2	0	ZNF33A	38384902	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	4.867000	0.63013	0.902000	0.36520	0.313000	0.20887	GGA	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	G	NM_006974		38344896	1	no_errors	ENST00000432900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38344896	G	C	38344896	3	2	153	1	0	0	0	0	1	0	0	0	17884	1174	41	1	1858	1	ZNF33A	10	38344896	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	224006	38344896	97189851	693	26667										
ZNF32	7580	genome.wustl.edu	37	chr10	44139801	44139801	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgtgaacagcaaggttactCtgattcctgaagcttctctg	9	10	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:44139801C>G	ENST00000395797.1	-	3	707	c.519G>C	c.(517-519)caG>caC	p.Q173H	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Q173H|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CAAGGTTACTCTGATTCCTGA	0.468																																																	0													108	107	107					10																	44139801		2203	4300	6503	SO:0001583	missense	7580			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.519G>C	10.37:g.44139801C>G	ENSP00000379143:p.Gln173His		Q92951	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q173H	ENST00000395797.1	37	c.519	CCDS7206.1	10	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349142	0.24426	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07908	3.15;3.15	4.67	-0.508	0.11980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000263	T	0.03915	0.0110	N	0.11313	0.125	0.27183	N	0.960618	P	0.47034	0.889	B	0.40565	0.333	T	0.42481	-0.9449	10	0.41790	T	0.15	-14.9688	8.5888	0.33674	0.0:0.3927:0.0:0.6073	.	173	P17041	ZNF32_HUMAN	H	173	ENSP00000363556:Q173H;ENSP00000379143:Q173H	ENSP00000363556:Q173H	Q	-	3	2	ZNF32	43459807	0.000000	0.05858	0.998000	0.56505	0.989000	0.77384	-3.245000	0.00542	-0.082000	0.12640	-0.302000	0.09304	CAG	ZNF32	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	HGNC	protein_coding	OTTHUMT00000047723.1	C	NM_006973		44139801	-1	no_errors	ENST00000374433	ensembl	human	known	70_37	missense	SNP	0.872	G	G	44139801	C	G	44139801	3	3	153	1	0	0	0	0	1	0	0	0	17868	912	32	1	306	1	ZNF32	10	44139801	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5794905	44139801	91394946	694	26668										
ANUBL1	93550	genome.wustl.edu	37	chr10	46113667	46113667	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgttttcttctttgtctgaaGaggggctttcacaggtggga	13	6	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:46113667G>A	ENST00000344646.5	-	9	2184	c.1969C>T	c.(1969-1971)Ctt>Ttt	p.L657F	ZFAND4_ENST00000374366.3_Missense_Mutation_p.L583F|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Missense_Mutation_p.S204F	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	657							zinc ion binding (GO:0008270)										TTTGTCTGAAGAGGGGCTTTC	0.413																																																	0													89	87	88					10																	46113667		2203	4300	6503	SO:0001583	missense	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1969C>T	10.37:g.46113667G>A	ENSP00000339484:p.Leu657Phe		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.L657F	ENST00000344646.5	37	c.1969	CCDS7214.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.657|4.657	0.122179|0.122179	0.08931|0.08931	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370|ENST00000374371;ENST00000374376	T;T|T	0.24350|0.51574	1.86;1.86|0.7	5.99|5.99	1.19|1.19	0.21007|0.21007	Zinc finger, AN1-type (1);|.	0.366570|.	0.26166|.	N|.	0.025960|.	T|T	0.23410|0.23410	0.0566|0.0566	N|N	0.14661|0.14661	0.345|0.345	0.24428|0.24428	N|N	0.994582|0.994582	P|B	0.45715|0.02656	0.865|0.0	B|B	0.43575|0.01281	0.424|0.0	T|T	0.18209|0.18209	-1.0344|-1.0344	10|8	0.30854|.	T|.	0.27|.	-23.3424|-23.3424	1.766|1.766	0.03002|0.03002	0.1271:0.2149:0.4043:0.2537|0.1271:0.2149:0.4043:0.2537	.|.	657|204	Q86XD8|Q5VVY4	ANUB1_HUMAN|.	F|F	657;583;539|204	ENSP00000339484:L657F;ENSP00000363486:L583F|ENSP00000363491:S204F	ENSP00000339484:L657F|.	L|S	-|-	1|2	0|0	ANUBL1|ANUBL1	45433673|45433673	0.012000|0.012000	0.17670|0.17670	0.954000|0.954000	0.39281|0.39281	0.098000|0.098000	0.18820|0.18820	-0.482000|-0.482000	0.06544|0.06544	0.215000|0.215000	0.20761|0.20761	-0.262000|-0.262000	0.10625|0.10625	CTT|TCT	ZFAND4	-	NULL		0.413	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	G	NM_174890		46113667	-1	no_errors	ENST00000344646	ensembl	human	known	70_37	missense	SNP	0.888	A	A	46113667	G	A	46113667	3	1	153	1	0	0	0	0	1	0	0	0	713	942	33	1	222	1	ANUBL1	10	46113667	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1973866	46113667	89421080	695	26669										
FAM21C	253725	genome.wustl.edu	37	chr10	46222947	46222947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggtcggtggaggagatccGcaggagcagccagagctggt	19	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:46222947G>A	ENST00000336378.4	+	2	204	c.86G>A	c.(85-87)cGc>cAc	p.R29H	FAM21C_ENST00000359860.4_Missense_Mutation_p.R28H|FAM21FP_ENST00000608637.1_RNA|FAM21C_ENST00000537517.1_Missense_Mutation_p.R29H|FAM21C_ENST00000540872.1_Missense_Mutation_p.R29H|FAM21C_ENST00000374362.2_Missense_Mutation_p.R29H	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	29					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGGAGATCCGCAGGAGCAGC	0.721																																																	0													7	10	9					10																	46222947		1794	3999	5793	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.86G>A	10.37:g.46222947G>A	ENSP00000337541:p.Arg29His		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.R29H	ENST00000336378.4	37	c.86		10	.	.	.	.	.	.	.	.	.	.	G	32	5.127430	0.94473	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848	.	.	.	4.2	4.2	0.49525	.	0.065013	0.64402	D	0.000009	T	0.72439	0.3460	M	0.81942	2.565	0.29368	N	0.864181	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.999;0.994	T	0.70806	-0.4772	9	0.59425	D	0.04	-5.5591	14.0837	0.64942	0.0:0.0:1.0:0.0	.	29;29;29;29	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	H	29;29;29;29;29;28;29	.	ENSP00000337541:R29H	R	+	2	0	FAM21C	45542953	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.741000	0.55090	2.153000	0.67306	0.563000	0.77884	CGC	FAM21C	-	NULL		0.721	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		G			46222947	1	no_errors	ENST00000374362	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46222947	G	A	46222947	3	1	153	1	0	0	0	0	1	0	0	0	5557	1087	38	2	92	2	FAM21C	10	46222947	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	109280	46222947	89311800	696	26670										
C10orf71	118461	genome.wustl.edu	37	chr10	50533782	50533782	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaccccggctcccccggggaGagcagtgcctgctcccctgc	12	19	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:50533782G>C	ENST00000374144.3	+	3	3480	c.3192G>C	c.(3190-3192)gaG>gaC	p.E1064D	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1064										endometrium(1)	1						CCCCCGGGGAGAGCAGTGCCT	0.637																																																	0													11	15	14					10																	50533782		691	1590	2281	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3192G>C	10.37:g.50533782G>C	ENSP00000363259:p.Glu1064Asp		A0AVL8	Missense_Mutation	SNP	NULL	p.E1064D	ENST00000374144.3	37	c.3192	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	G	5.228	0.227649	0.09916	.	.	ENSG00000177354	ENST00000374144	T	0.04809	3.55	5.38	-3.74	0.04385	.	0.185931	0.26193	N	0.025798	T	0.05273	0.0140	L	0.43152	1.355	0.09310	N	1	.	.	.	.	.	.	T	0.34229	-0.9837	8	0.30078	T	0.28	.	9.3328	0.38032	0.0637:0.5024:0.3312:0.1026	.	.	.	.	D	1064	ENSP00000363259:E1064D	ENSP00000363259:E1064D	E	+	3	2	C10orf71	50203788	0.222000	0.23652	0.007000	0.13788	0.187000	0.23431	0.305000	0.19254	-0.281000	0.09141	0.491000	0.48974	GAG	C10orf71	-	NULL		0.637	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	G	NM_199459		50533782	1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.017	C	C	50533782	G	C	50533782	3	2	153	1	0	0	0	0	1	0	0	0	1618	933	33	1	3194	1	C10orf71	10	50533782	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4310835	50533782	85000965	697	26671										
FAM21A	387680	genome.wustl.edu	37	chr10	51889698	51889698	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaatccctttcctctcctgGaagatgaggatgacctcttt	7	12	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:51889698G>T	ENST00000282633.5	+	29	3652	c.3607G>T	c.(3607-3609)Gaa>Taa	p.E1203*	FAM21A_ENST00000314664.7_Nonsense_Mutation_p.E1141*|FAM21A_ENST00000351071.6_Nonsense_Mutation_p.E1182*|FAM21A_ENST00000399339.2_Nonsense_Mutation_p.E1115*	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1203					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TCCTCTCCTGGAAGATGAGGA	0.408																																																	0													3	2	2					10																	51889698		913	2058	2971	SO:0001587	stop_gained	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3607G>T	10.37:g.51889698G>T	ENSP00000282633:p.Glu1203*		A2A3S2|A2A3U6|Q6DHY0	Nonsense_Mutation	SNP	NULL	p.E1203*	ENST00000282633.5	37	c.3607	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	g	41	8.581135	0.98872	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000282633;ENST00000399339	.	.	.	4.14	4.14	0.48551	.	0.277828	0.42053	D	0.000771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.5846	12.3184	0.54971	0.0:0.0:1.0:0.0	.	.	.	.	X	1182;1141;1203;1115	.	.	E	+	1	0	FAM21A	51559704	1.000000	0.71417	0.891000	0.34965	0.678000	0.39670	8.609000	0.90898	2.011000	0.59026	0.184000	0.17185	GAA	FAM21A	-	NULL		0.408	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	G	NM_001005751		51889698	1	no_errors	ENST00000282633	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	51889698	G	T	51889698	4	4	153	1	0	0	0	0	0	1	0	0	5555	1175	41	3	3721	3	FAM21A	10	51889698	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1355916	51889698	83645049	698	26672										
FAM13C	220965	genome.wustl.edu	37	chr10	61043192	61043192	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgggtccttgactccatgcaCctgagcagcttcttcctggt	10	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61043192C>G	ENST00000373868.2	-	6	610	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	FAM13C_ENST00000435852.2_Missense_Mutation_p.V175L|FAM13C_ENST00000442566.3_Missense_Mutation_p.V196L|FAM13C_ENST00000468840.2_Missense_Mutation_p.V92L|FAM13C_ENST00000373867.3_Missense_Mutation_p.V92L|FAM13C_ENST00000419214.2_Missense_Mutation_p.V175L|FAM13C_ENST00000422313.2_Missense_Mutation_p.V175L|FAM13C_ENST00000277705.6_Missense_Mutation_p.V196L|RP11-443O13.3_ENST00000433249.1_RNA	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	175										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTCCATGCACCTGAGCAGCT	0.527																																																	0													146	142	143					10																	61043192		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.523G>C	10.37:g.61043192C>G	ENSP00000362975:p.Val175Leu		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.V175L	ENST00000373868.2	37	c.523	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871244	0.33069	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.76448	-0.99;0.98;-1.02;-1.02;0.97;-0.99;0.98;0.99	4.85	3.87	0.44632	.	0.225469	0.30686	N	0.009100	T	0.67002	0.2847	L	0.38838	1.175	0.30309	N	0.788716	B;B;B;B;B	0.18968	0.011;0.002;0.032;0.004;0.011	B;B;B;B;B	0.17098	0.014;0.004;0.017;0.005;0.01	T	0.59804	-0.7385	10	0.20046	T	0.44	-10.7478	13.6775	0.62462	0.0:0.7447:0.2553:0.0	.	175;92;175;175;175	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	92;175;196;196;175;92;175;175	ENSP00000362974:V92L;ENSP00000362975:V175L;ENSP00000395661:V196L;ENSP00000277705:V196L;ENSP00000391993:V175L;ENSP00000423896:V92L;ENSP00000392302:V175L;ENSP00000400241:V175L	ENSP00000277705:V196L	V	-	1	0	FAM13C	60713198	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.165000	0.31822	2.388000	0.81334	0.563000	0.77884	GTG	FAM13C	-	NULL		0.527	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	C			61043192	-1	no_errors	ENST00000373868	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61043192	C	G	61043192	3	3	153	1	0	0	0	0	1	0	0	0	5469	507	18	4	1270	4	FAM13C	10	61043192	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9153494	61043192	74491555	699	26673										
ANK3	288	genome.wustl.edu	37	chr10	61830231	61830231	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atctggtcccacctttccctCctcctcgataacttcaagtt	4	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61830231C>G	ENST00000280772.2	-	37	10599	c.10408G>C	c.(10408-10410)Gag>Cag	p.E3470Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3470					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCTTTCCCTCCTCCTCGATA	0.453																																																	0													86	85	85					10																	61830231		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10408G>C	10.37:g.61830231C>G	ENSP00000280772:p.Glu3470Gln		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3470Q	ENST00000280772.2	37	c.10408	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014093	0.54468	.	.	ENSG00000151150	ENST00000280772	T	0.26957	1.7	5.64	5.64	0.86602	.	0.000000	0.42682	D	0.000675	T	0.45397	0.1340	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.06588	-1.0818	10	0.23302	T	0.38	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	3470	Q12955	ANK3_HUMAN	Q	3470	ENSP00000280772:E3470Q	ENSP00000280772:E3470Q	E	-	1	0	ANK3	61500237	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.818000	0.86416	2.654000	0.90174	0.563000	0.77884	GAG	ANK3	-	NULL		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61830231	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61830231	C	G	61830231	3	3	153	1	0	0	0	0	1	0	0	0	622	864	30	1	3066	1	ANK3	10	61830231	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	787039	61830231	73704516	700	26674										
ANK3	288	genome.wustl.edu	37	chr10	61835402	61835402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcacagagtttgtagcagaaGaaattttttcctgtaacgtg	9	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61835402G>A	ENST00000280772.2	-	37	5428	c.5237C>T	c.(5236-5238)tCt>tTt	p.S1746F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1746	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAGCAGAAGAAATTTTTTC	0.428																																																	0													55	57	56					10																	61835402		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5237C>T	10.37:g.61835402G>A	ENSP00000280772:p.Ser1746Phe		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S1746F	ENST00000280772.2	37	c.5237	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784896	0.31593	.	.	ENSG00000151150	ENST00000280772	T	0.65178	-0.14	5.82	5.82	0.92795	.	0.176206	0.27513	N	0.019032	T	0.60261	0.2255	L	0.36672	1.1	0.80722	D	1	B	0.31009	0.303	B	0.35510	0.204	T	0.60525	-0.7246	10	0.72032	D	0.01	.	20.0992	0.97865	0.0:0.0:1.0:0.0	.	1746	Q12955	ANK3_HUMAN	F	1746	ENSP00000280772:S1746F	ENSP00000280772:S1746F	S	-	2	0	ANK3	61505408	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.938000	0.75904	2.762000	0.94881	0.467000	0.42956	TCT	ANK3	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61835402	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61835402	G	A	61835402	3	1	153	1	0	0	0	0	1	0	0	0	622	942	33	1	8237	1	ANK3	10	61835402	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5171	61835402	73699345	701	26675										
ANK3	288	genome.wustl.edu	37	chr10	61846553	61846553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgattggtttatggaatttCcgtcttcttggttccacagt	10	7	2	1	rs372847533		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61846553C>T	ENST00000280772.2	-	30	3821	c.3630G>A	c.(3628-3630)cgG>cgA	p.R1210R	ANK3_ENST00000503366.1_Silent_p.R1211R|ANK3_ENST00000373827.2_Silent_p.R1204R|ANK3_ENST00000355288.2_Silent_p.R344R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1210	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATGGAATTTCCGTCTTCTTG	0.473																																																	0													147	135	139					10																	61846553		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3630G>A	10.37:g.61846553C>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R1210	ENST00000280772.2	37	c.3630	CCDS7258.1	10																																																																																			ANK3	-	NULL		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61846553	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	silent	SNP	1.000	T	T	61846553	C	T	61846553	2	4	153	1	0	0	0	0	0	0	0	1	622	842	30	1		1	ANK3	10	61846553	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11151	61846553	73688194	702	26676										
C10orf107	219621	genome.wustl.edu	37	chr10	63450372	63450372	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagggaagaaattgtgatagGaactgaggtaagtaatttat	12	2	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:63450372G>C	ENST00000330194.2	+	4	586	c.281G>C	c.(280-282)gGa>gCa	p.G94A		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	94										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ATTGTGATAGGAACTGAGGTA	0.343																																																	0													123	124	124					10																	63450372		2203	4299	6502	SO:0001583	missense	219621			BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.281G>C	10.37:g.63450372G>C	ENSP00000328698:p.Gly94Ala		Q5T1B8	Missense_Mutation	SNP	NULL	p.G94A	ENST00000330194.2	37	c.281	CCDS7262.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.944531|3.944531	0.73672|0.73672	.|.	.|.	ENSG00000183346|ENSG00000183346	ENST00000389639|ENST00000330194	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.245514	.|0.36374	.|N	.|0.002630	T|T	0.79896|0.79896	0.4525|0.4525	M|M	0.78637|0.78637	2.42|2.42	0.35747|0.35747	D|D	0.819133|0.819133	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.79997|0.79997	-0.1567|-0.1567	5|9	.|0.27082	.|T	.|0.32	-20.6455|-20.6455	19.7142|19.7142	0.96108|0.96108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|94	.|Q8IVU9	.|CJ107_HUMAN	Q|A	83|94	.|.	.|ENSP00000328698:G94A	E|G	+|+	1|2	0|0	C10orf107|C10orf107	63120378|63120378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.445000|5.445000	0.66594|0.66594	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAA|GGA	C10orf107	-	NULL		0.343	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf107	HGNC	protein_coding	OTTHUMT00000048228.2	G	NM_173554		63450372	1	no_errors	ENST00000330194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63450372	G	C	63450372	3	2	153	1	0	0	0	0	1	0	0	0	1585	1174	41	1	291	1	C10orf107	10	63450372	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1603819	63450372	72084375	703	26677										
PBLD	64081	genome.wustl.edu	37	chr10	70048324	70048324	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgggtctgcccaccaggctCtcctttaagggtaagaataa	10	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70048324C>T	ENST00000358769.2	-	8	809	c.607G>A	c.(607-609)Gag>Aag	p.E203K	PBLD_ENST00000309049.4_Missense_Mutation_p.E203K|PBLD_ENST00000432941.1_Missense_Mutation_p.E203K|PBLD_ENST00000495025.2_Missense_Mutation_p.E203K|PBLD_ENST00000336578.1_Missense_Mutation_p.E170K	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	203					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCACCAGGCTCTCCTTTAAGG	0.463																																																	0													98	92	94					10																	70048324		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.607G>A	10.37:g.70048324C>T	ENSP00000351619:p.Glu203Lys		A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.E203K	ENST00000358769.2	37	c.607	CCDS7277.2	10	.	.	.	.	.	.	.	.	.	.	C	1.227	-0.625318	0.03610	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.01	-3.66	0.04489	.	0.801078	0.11670	N	0.540927	T	0.16811	0.0404	L	0.35414	1.06	0.19775	N	0.999957	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.36407	-0.9749	10	0.12766	T	0.61	-3.248	7.2206	0.25985	0.0:0.279:0.4403:0.2807	.	203;203	C9JIM0;P30039	.;PBLD_HUMAN	K	170;203;203;203	ENSP00000338041:E170K;ENSP00000351619:E203K;ENSP00000308466:E203K;ENSP00000395534:E203K	ENSP00000308466:E203K	E	-	1	0	PBLD	69718330	0.879000	0.30193	0.395000	0.26283	0.473000	0.32948	-0.085000	0.11250	-0.552000	0.06167	-0.300000	0.09419	GAG	PBLD	-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.463	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	C	NM_022129		70048324	-1	no_errors	ENST00000309049	ensembl	human	known	70_37	missense	SNP	0.090	T	T	70048324	C	T	70048324	3	4	153	1	0	0	0	0	1	0	0	0	11513	922	32	1	360	1	PBLD	10	70048324	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6597952	70048324	65486423	704	26678										
KIAA1279	26128	genome.wustl.edu	37	chr10	70775519	70775519	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggtcagcactatgtctttGaggcaaaagagttctttcag	11	7	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70775519G>C	ENST00000361983.4	+	7	1315	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	405					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTATGTCTTTGAGGCAAAAGA	0.403																																																	0													154	142	146					10																	70775519		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1213G>C	10.37:g.70775519G>C	ENSP00000354848:p.Glu405Gln		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.E405Q	ENST00000361983.4	37	c.1213	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302604	0.40795	.	.	ENSG00000198954	ENST00000361983	T	0.42131	0.98	5.51	5.51	0.81932	.	0.142496	0.64402	D	0.000006	T	0.31482	0.0798	N	0.25890	0.77	0.58432	D	0.999999	P	0.35551	0.509	B	0.31495	0.131	T	0.05716	-1.0868	10	0.18276	T	0.48	-20.3918	19.7791	0.96410	0.0:0.0:1.0:0.0	.	405	Q96EK5	KBP_HUMAN	Q	405	ENSP00000354848:E405Q	ENSP00000354848:E405Q	E	+	1	0	KIAA1279	70445525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.052000	0.57420	2.763000	0.94921	0.650000	0.86243	GAG	KIAA1279	-	pfam_KBP		0.403	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	G	NM_015634		70775519	1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	0.999	C	C	70775519	G	C	70775519	3	2	153	1	0	0	0	0	1	0	0	0	8241	1291	45	1	1239	1	KIAA1279	10	70775519	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	727195	70775519	64759228	705	26679										
KIAA1279	26128	genome.wustl.edu	37	chr10	70775758	70775758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcacatgcttactatgatatGatggatttgaaggttgccat	10	6	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70775758G>C	ENST00000361983.4	+	7	1554	c.1452G>C	c.(1450-1452)atG>atC	p.M484I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	484					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ACTATGATATGATGGATTTGA	0.388																																																	0													68	64	66					10																	70775758		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1452G>C	10.37:g.70775758G>C	ENSP00000354848:p.Met484Ile		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.M484I	ENST00000361983.4	37	c.1452	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841223	0.71488	.	.	ENSG00000198954	ENST00000361983	T	0.42513	0.97	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.37561	1.115	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.38457	-0.9660	10	0.21014	T	0.42	-11.2697	20.0572	0.97657	0.0:0.0:1.0:0.0	.	484	Q96EK5	KBP_HUMAN	I	484	ENSP00000354848:M484I	ENSP00000354848:M484I	M	+	3	0	KIAA1279	70445764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.826000	0.97356	0.655000	0.94253	ATG	KIAA1279	-	pfam_KBP		0.388	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	G	NM_015634		70775758	1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70775758	G	C	70775758	3	2	153	1	0	0	0	0	1	0	0	0	8241	1290	45	1	1478	1	KIAA1279	10	70775758	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	239	70775758	64758989	706	26680										
KIAA1279	26128	genome.wustl.edu	37	chr10	70776150	70776150	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacaaaaatggagagattcaGaaccaagatggccctgactt	9	8	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70776150G>A	ENST00000361983.4	+	7	1946	c.1844G>A	c.(1843-1845)aGa>aAa	p.R615K		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	615					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GAGAGATTCAGAACCAAGATG	0.408																																																	0													40	42	41					10																	70776150		2203	4298	6501	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1844G>A	10.37:g.70776150G>A	ENSP00000354848:p.Arg615Lys		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.R615K	ENST00000361983.4	37	c.1844	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624347	0.28889	.	.	ENSG00000198954	ENST00000361983	T	0.40476	1.03	5.9	4.03	0.46877	.	0.083439	0.85682	D	0.000000	T	0.24851	0.0603	N	0.12182	0.205	0.47441	D	0.999428	B	0.34329	0.449	B	0.34873	0.191	T	0.06607	-1.0817	10	0.21014	T	0.42	-1.837	12.7728	0.57432	0.1343:0.0:0.8657:0.0	.	615	Q96EK5	KBP_HUMAN	K	615	ENSP00000354848:R615K	ENSP00000354848:R615K	R	+	2	0	KIAA1279	70446156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.198000	0.58419	1.492000	0.48499	0.591000	0.81541	AGA	KIAA1279	-	NULL		0.408	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	G	NM_015634		70776150	1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70776150	G	A	70776150	3	1	153	1	0	0	0	0	1	0	0	0	8241	942	33	1	1870	1	KIAA1279	10	70776150	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	392	70776150	64758597	707	26681										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72517796	72517796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaacagcctcgggcattgcGagggggataggccagacact	14	12	0	1	rs146237817	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:72517796G>C	ENST00000373207.1	+	20	3016	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E1009Q	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1006	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGGCATTGCGAGGGGGATAG	0.667																																																	0													46	43	44					10																	72517796		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3016G>C	10.37:g.72517796G>C	ENSP00000362303:p.Glu1006Gln		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E1009Q	ENST00000373207.1	37	c.3025	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063395	0.36373	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.55588	0.51;0.51	4.34	3.44	0.39384	.	0.204718	0.39759	N	0.001270	T	0.49012	0.1532	L	0.33245	0.995	0.30147	N	0.803403	D;P	0.56746	0.977;0.524	P;B	0.55965	0.788;0.27	T	0.43702	-0.9375	10	0.15952	T	0.53	.	8.9173	0.35590	0.0853:0.1498:0.7649:0.0	.	1006;1009	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	Q	1009;1006	ENSP00000362304:E1009Q;ENSP00000362303:E1006Q	ENSP00000362303:E1006Q	E	+	1	0	ADAMTS14	72187802	1.000000	0.71417	0.323000	0.25347	0.308000	0.27856	5.523000	0.67099	1.046000	0.40249	0.561000	0.74099	GAG	ADAMTS14	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72517796	1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.953	C	C	72517796	G	C	72517796	3	2	153	1	0	0	0	0	1	0	0	0	259	1059	37	1	3103	1	ADAMTS14	10	72517796	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1741646	72517796	63016951	708	26682										
CDH23	64072	genome.wustl.edu	37	chr10	73455216	73455218	+	In_Frame_Del	DEL	GTG	GTG	-													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcaatgacaaccaccccacGtggaaggacgcaccctacta					rs367797304		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	GTG	GTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:73455216_73455218delGTG	ENST00000224721.6	+	21	2351_2353	c.2346_2348delGTG	c.(2344-2349)acgtgg>acg	p.W783del	CDH23_ENST00000299366.7_In_Frame_Del_p.W823del	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	778	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCACCCCACGTGGAAGGACGCA	0.601																																																	0																																										SO:0001651	inframe_deletion	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2346_2348delGTG	10.37:g.73455216_73455218delGTG	ENSP00000224721:p.Trp783del		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	In_Frame_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W781in_frame_del	ENST00000224721.6	37	c.2340_2342		10																																																																																			CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.601	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	GTG	NM_052836		73455218	1	no_errors	ENST00000224721	ensembl	human	known	70_37	in_frame_del	DEL	0.868:1.000:1.000	-	-	73455218	GTG	-	73455216	7	5	153	1	0	1	0	1	0	0	0	0	3113	1132	40	0	2640	0	CDH23	10	73455216	In_Frame_Del	DEL	GTG	TCGA-IR-A3LK-01A-12D-A20U-09	937420	73455216	62079531	709	26683										
CHST3	9469	genome.wustl.edu	37	chr10	73767071	73767071	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccagcttcagagccgtctCcgcaacctcagcttgcagct	8	17	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:73767071C>G	ENST00000373115.4	+	3	719	c.282C>G	c.(280-282)ctC>ctG	p.L94L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						AGAGCCGTCTCCGCAACCTCA	0.627																																																	0													42	37	39					10																	73767071		2203	4300	6503	SO:0001819	synonymous_variant	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.282C>G	10.37:g.73767071C>G			O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.L94	ENST00000373115.4	37	c.282	CCDS7312.1	10																																																																																			CHST3	-	pirsf_Carbohydrate_sulfotransferase		0.627	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	C	NM_004273		73767071	1	no_errors	ENST00000373115	ensembl	human	known	70_37	silent	SNP	0.877	G	G	73767071	C	G	73767071	2	3	153	1	0	0	0	0	0	0	0	1	3410	842	30	1		1	CHST3	10	73767071	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	311855	73767071	61767676	710	26684										
DDIT4	54541	genome.wustl.edu	37	chr10	74034832	74034832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccaggggctgtttagctcCgccaactctcccttcctccc	7	18	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74034832C>T	ENST00000307365.3	+	3	786	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	195					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGTTTAGCTCCGCCAACTCTC	0.617											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27	28	28					10																	74034832		2203	4300	6503	SO:0001819	synonymous_variant	54541			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.585C>T	10.37:g.74034832C>T		1149	Q9H0S3	Silent	SNP	pfam_RTP801-like	p.S195	ENST00000307365.3	37	c.585	CCDS7315.1	10																																																																																			DDIT4	-	pfam_RTP801-like		0.617	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	C	NM_019058		74034832	1	no_errors	ENST00000307365	ensembl	human	known	70_37	silent	SNP	0.001	T	T	74034832	C	T	74034832	2	4	153	1	0	0	0	0	0	0	0	1	4336	639	23	2		2	DDIT4	10	74034832	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	267761	74034832	61499915	711	26685										
OIT3	170392	genome.wustl.edu	37	chr10	74673095	74673095	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtgcaaatcaaatgccattGaagtgaacatccccagggag	10	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74673095G>C	ENST00000334011.5	+	6	1038	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	274	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAATGCCATTGAAGTGAACAT	0.517																																					Colon(7;19 345 13446 17537)												0													192	187	189					10																	74673095		2203	4300	6503	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.820G>C	10.37:g.74673095G>C	ENSP00000333900:p.Glu274Gln		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E274Q	ENST00000334011.5	37	c.820	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584199	0.65992	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.82984	-1.67	5.95	5.05	0.67936	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000015	D	0.86360	0.5914	L	0.54323	1.7	0.50467	D	0.999875	D	0.53312	0.959	P	0.58130	0.833	D	0.84122	0.0407	10	0.24483	T	0.36	-11.8004	15.3601	0.74464	0.0668:0.0:0.9332:0.0	.	274	Q8WWZ8	OIT3_HUMAN	Q	274	ENSP00000333900:E274Q	ENSP00000333900:E274Q	E	+	1	0	OIT3	74343101	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	7.312000	0.78968	1.526000	0.49068	0.655000	0.94253	GAA	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.517	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	G	NM_152635		74673095	1	no_errors	ENST00000334011	ensembl	human	known	70_37	missense	SNP	0.998	C	C	74673095	G	C	74673095	3	2	153	1	0	0	0	0	1	0	0	0	10873	1291	45	1	842	1	OIT3	10	74673095	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	638263	74673095	60861652	712	26686										
PLA2G12B	84647	genome.wustl.edu	37	chr10	74714349	74714349	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtgccgaaggccccagtctGaataggactcctccgtgtca	12	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74714349G>C	ENST00000373032.3	-	1	187	c.95C>G	c.(94-96)tCa>tGa	p.S32*		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	32					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCCCCAGTCTGAATAGGACTC	0.572																																																	0													92	100	97					10																	74714349		2203	4300	6503	SO:0001587	stop_gained	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.95C>G	10.37:g.74714349G>C	ENSP00000362123:p.Ser32*		B7ZL23|Q52LB2|Q96Q99	Nonsense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.S32*	ENST00000373032.3	37	c.95	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594358	0.66219	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.65	4.74	0.60224	.	0.710315	0.14133	N	0.339229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.6843	16.3502	0.83202	0.0:0.1323:0.8677:0.0	.	.	.	.	X	32	.	ENSP00000362123:S32X	S	-	2	0	PLA2G12B	74384355	0.987000	0.35691	0.233000	0.24025	0.261000	0.26267	7.632000	0.83247	1.383000	0.46405	-0.165000	0.13383	TCA	PLA2G12B	-	pfam_PLipase_A2_secretory_G12		0.572	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	G	NM_032562		74714349	-1	no_errors	ENST00000373032	ensembl	human	known	70_37	nonsense	SNP	0.056	C	C	74714349	G	C	74714349	4	2	153	1	0	0	0	0	0	1	0	0	12015	1294	45	1	508	1	PLA2G12B	10	74714349	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	41254	74714349	60820398	713	26687										
FAS	355	genome.wustl.edu	37	chr10	90771815	90771815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaaaggaaaaccaaggttctCatgaatctccaactttaaat	6	8	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:90771815C>T	ENST00000355279.2	+	7	628	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	FAS_ENST00000352159.4_Missense_Mutation_p.H210Y|FAS_ENST00000357339.2_Missense_Mutation_p.H189Y|FAS_ENST00000355740.2_Missense_Mutation_p.H210Y|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CCAAGGTTCTCATGAATCTCC	0.348																																																	0													114	116	115					10																	90771815		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.628C>T	10.37:g.90771815C>T	ENSP00000347426:p.His210Tyr		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.H210Y	ENST00000355279.2	37	c.628	CCDS7395.1	10	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.928730	0.00493	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;T;D;T	0.92699	-3.09;-0.66;-2.08;-0.58	3.34	-4.47	0.03525	.	10.426800	0.00166	N	0.000000	D	0.82962	0.5151	L	0.40543	1.245	0.09310	N	1	P;B;P	0.41008	0.735;0.353;0.641	B;B;B	0.30716	0.072;0.042;0.119	T	0.75442	-0.3316	10	0.30078	T	0.28	10.7428	1.6535	0.02776	0.1442:0.1957:0.1645:0.4955	.	189;210;210	P25445-6;Q5T9P3;P25445	.;.;TNR6_HUMAN	Y	237;210;210;189;210;210	ENSP00000347979:H210Y;ENSP00000345601:H210Y;ENSP00000349896:H189Y;ENSP00000347426:H210Y	ENSP00000345601:H210Y	H	+	1	0	FAS	90761795	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.114000	0.03293	-1.065000	0.03168	-0.262000	0.10625	CAT	FAS	-	NULL		0.348	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049280.2	C			90771815	1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	0.000	T	T	90771815	C	T	90771815	3	4	153	1	0	0	0	0	1	0	0	0	5699	826	29	1	654	1	FAS	10	90771815	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	16057466	90771815	44762932	714	26688										
KIF20B	9585	genome.wustl.edu	37	chr10	91503597	91503597	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgtgatgaggataaattactGaggattaaaattaatgaact	9	3	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:91503597G>A	ENST00000371728.3	+	22	4013	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	KIF20B_ENST00000416354.1_Silent_p.L1346L|KIF20B_ENST00000394289.2_Silent_p.L1316L|KIF20B_ENST00000260753.4_Silent_p.L1276L|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1316					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATAAATTACTGAGGATTAAAA	0.289																																																	0													64	73	70					10																	91503597		2200	4296	6496	SO:0001819	synonymous_variant	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3948G>A	10.37:g.91503597G>A			A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1346	ENST00000371728.3	37	c.4038		10																																																																																			KIF20B	-	NULL		0.289	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91503597	1	no_errors	ENST00000416354	ensembl	human	known	70_37	silent	SNP	1.000	A	A	91503597	G	A	91503597	2	1	153	1	0	0	0	0	0	0	0	1	8307	1277	45	1		1	KIF20B	10	91503597	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	731782	91503597	44031150	715	26689										
KIF20B	9585	genome.wustl.edu	37	chr10	91528105	91528105	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagaactaatttgaaatttcCtatttcagatgatagaaatt	5	5	1	5	rs373257085		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:91528105C>G	ENST00000371728.3	+	30	5113	c.5048C>G	c.(5047-5049)cCt>cGt	p.P1683R	KIF20B_ENST00000416354.1_Missense_Mutation_p.P1713R|KIF20B_ENST00000260753.4_Missense_Mutation_p.P1643R|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1683	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGAAATTTCCTATTTCAGAT	0.303																																																	0								C	ARG/PRO	1,4403	2.1+/-5.4	0,1,2201	58	65	63		4928	3.5	0.2	10		63	0,8584		0,0,4292	no	missense	KIF20B	NM_016195.2	103	0,1,6493	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	1643/1781	91528105	1,12987	2202	4292	6494	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5048C>G	10.37:g.91528105C>G	ENSP00000360793:p.Pro1683Arg		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1713R	ENST00000371728.3	37	c.5138		10	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700752	0.30142	2.27E-4	0.0	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.44083	0.93;0.93;0.93	5.34	3.5	0.40072	.	0.141093	0.33401	N	0.004949	T	0.53722	0.1814	L	0.50333	1.59	0.54753	D	0.999983	D;D	0.76494	0.999;0.966	D;D	0.66196	0.942;0.913	T	0.54016	-0.8356	10	0.72032	D	0.01	-7.3656	10.6276	0.45516	0.0:0.8533:0.0:0.1467	.	1683;1643	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	R	1643;1713;1683	ENSP00000260753:P1643R;ENSP00000411545:P1713R;ENSP00000360793:P1683R	ENSP00000260753:P1643R	P	+	2	0	KIF20B	91518085	0.098000	0.21812	0.160000	0.22671	0.311000	0.27955	1.731000	0.38135	0.754000	0.32968	0.561000	0.74099	CCT	KIF20B	-	NULL		0.303	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91528105	1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.337	G	G	91528105	C	G	91528105	3	3	153	1	0	0	0	0	1	0	0	0	8307	681	24	4	5042	4	KIF20B	10	91528105	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	24508	91528105	44006642	716	26690										
NOC3L	64318	genome.wustl.edu	37	chr10	96100046	96100046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tacatacctgcatgtaatttGaacagtgttttgtagagatg	9	5	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:96100046G>C	ENST00000371361.3	-	16	1867	c.1767C>G	c.(1765-1767)ttC>ttG	p.F589L	NOC3L_ENST00000543788.1_Missense_Mutation_p.F327L|NOC3L_ENST00000371350.1_Missense_Mutation_p.F589L	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	589					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CATGTAATTTGAACAGTGTTT	0.284																																																	0													107	103	104					10																	96100046		2202	4297	6499	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1767C>G	10.37:g.96100046G>C	ENSP00000360412:p.Phe589Leu		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.F589L	ENST00000371361.3	37	c.1767	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	2.856	-0.237276	0.05944	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.32272	2.44;1.46;1.46	5.41	0.946	0.19549	CCAAT-binding factor (1);	0.185300	0.49916	D	0.000131	T	0.08626	0.0214	N	0.01576	-0.805	0.33200	D	0.552037	B	0.06786	0.001	B	0.10450	0.005	T	0.37220	-0.9715	10	0.06625	T	0.88	-13.5258	8.7299	0.34491	0.4851:0.0:0.5149:0.0	.	589	Q8WTT2	NOC3L_HUMAN	L	327;589;589	ENSP00000437838:F327L;ENSP00000360412:F589L;ENSP00000360401:F589L	ENSP00000360401:F589L	F	-	3	2	NOC3L	96090036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.109000	0.31135	0.372000	0.24591	0.655000	0.94253	TTC	NOC3L	-	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3		0.284	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	G	NM_022451		96100046	-1	no_errors	ENST00000371350	ensembl	human	known	70_37	missense	SNP	0.999	C	C	96100046	G	C	96100046	3	2	153	1	0	0	0	0	1	0	0	0	10538	1281	45	1	659	1	NOC3L	10	96100046	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4571941	96100046	39434701	717	26691										
SORBS1	10580	genome.wustl.edu	37	chr10	97131130	97131130	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attaagcgtctccattttttCtaaatctgcctctaactctg	4	11	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:97131130C>G	ENST00000361941.3	-	19	1884	c.1858G>C	c.(1858-1860)Gaa>Caa	p.E620Q	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.E620Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E590Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Missense_Mutation_p.E387Q|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.E574Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.E642Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E397Q|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.E642Q|SORBS1_ENST00000354106.3_Missense_Mutation_p.E590Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCCATTTTTTCTAAATCTGCC	0.408																																																	0													144	141	142					10																	97131130		2203	4300	6503	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1858G>C	10.37:g.97131130C>G	ENSP00000355136:p.Glu620Gln			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.E620Q	ENST00000361941.3	37	c.1858	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984811	0.74474	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.87	5.87	0.94306	.	0.000000	0.41938	D	0.000787	T	0.54886	0.1886	L	0.40543	1.245	0.80722	D	1	B;B;D;P	0.56746	0.101;0.048;0.977;0.634	B;B;P;B	0.52793	0.075;0.015;0.709;0.165	T	0.50608	-0.8808	10	0.46703	T	0.11	-3.1581	20.2141	0.98291	0.0:1.0:0.0:0.0	.	574;620;642;590	Q9BX66-11;Q9BX66;Q9BX66-2;Q9BX66-5	.;SRBS1_HUMAN;.;.	Q	620;574;642;590;620;642;590;397	ENSP00000360293:E620Q;ENSP00000360271:E574Q;ENSP00000360292:E642Q;ENSP00000377521:E590Q;ENSP00000355136:E620Q;ENSP00000277982:E642Q;ENSP00000277984:E590Q;ENSP00000360283:E397Q	ENSP00000277982:E642Q	E	-	1	0	SORBS1	97121120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.819000	0.55686	2.787000	0.95880	0.557000	0.71058	GAA	SORBS1	-	NULL		0.408	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97131130	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97131130	C	G	97131130	3	3	153	1	0	0	0	0	1	0	0	0	14957	922	32	1	2136	1	SORBS1	10	97131130	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1031084	97131130	38403617	718	26692										
CRTAC1	401647	genome.wustl.edu	37	chr10	99625350	99625350	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttaaccaccgaccccagattGagatctccatctacgaggac	7	14	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:99625350G>C	ENST00000370602.1	+	5	462	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	CRTAC1_ENST00000298819.4_3'UTR|GOLGA7B_ENST00000596005.1_5'Flank|CRTAC1_ENST00000370597.3_Silent_p.L647L	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	133						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						ACCCCAGATTGAGATCTCCAT	0.667																																																	0													39	39	39					10																	99625350		2203	4300	6503	SO:0001583	missense	401647			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.397G>C	10.37:g.99625350G>C	ENSP00000359634:p.Glu133Gln		Q5T4F5	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.E133Q	ENST00000370602.1	37	c.397	CCDS31265.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117374	0.77323	.	.	ENSG00000155265	ENST00000370602	.	.	.	4.59	4.59	0.56863	.	0.152045	0.42682	D	0.000668	T	0.69459	0.3113	M	0.84683	2.71	0.80722	D	1	P	0.46064	0.872	B	0.42827	0.399	T	0.78326	-0.2247	9	0.72032	D	0.01	-17.892	16.5205	0.84312	0.0:0.0:1.0:0.0	.	133	Q2TAP0	GOG7B_HUMAN	Q	133	.	ENSP00000359634:E133Q	E	+	1	0	GOLGA7B	99615340	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.146000	0.89626	2.270000	0.75569	0.462000	0.41574	GAG	GOLGA7B	-	NULL		0.667	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA7B	HGNC	protein_coding	OTTHUMT00000049752.1	G	NM_001010917		99625350	1	no_errors	ENST00000370602	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99625350	G	C	99625350	3	2	153	1	0	0	0	0	1	0	0	0	3901	1291	45	1	48	1	CRTAC1	10	99625350	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2494220	99625350	35909397	719	26693										
C10orf28	27291	genome.wustl.edu	37	chr10	99969375	99969375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgggacaaaagttctttcaGacagtgccgtgggcattgac	12	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:99969375G>A	ENST00000298999.3	+	5	1807	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D502N	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	502							nucleotide binding (GO:0000166)										AGTTCTTTCAGACAGTGCCGT	0.403																																																	0													84	78	80					10																	99969375		2203	4300	6503	SO:0001583	missense	27291			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1504G>A	10.37:g.99969375G>A	ENSP00000298999:p.Asp502Asn		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.D502N	ENST00000298999.3	37	c.1504	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231240	0.22626	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.06768	3.26;3.26	4.76	3.77	0.43336	.	0.376049	0.23159	N	0.051265	T	0.08268	0.0206	L	0.53249	1.67	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.16722	0.016;0.011	T	0.13335	-1.0513	9	.	.	.	-3.4081	7.076	0.25205	0.1245:0.0:0.8755:0.0	.	502;502	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	N	502	ENSP00000359616:D502N;ENSP00000298999:D502N	.	D	+	1	0	C10orf28	99959365	0.733000	0.28132	0.965000	0.40720	0.757000	0.42996	1.790000	0.38734	2.482000	0.83794	0.591000	0.81541	GAC	R3HCC1L	-	NULL		0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	G	NM_014472		99969375	1	no_errors	ENST00000298999	ensembl	human	known	70_37	missense	SNP	0.865	A	A	99969375	G	A	99969375	3	1	153	1	0	0	0	0	1	0	0	0	1605	942	33	1	1506	1	C10orf28	10	99969375	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	344025	99969375	35565372	720	26694										
ABCC2	1244	genome.wustl.edu	37	chr10	101611362	101611362	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggctaaggaagctggcattGagaatgtgaacagcacaaaa	12	6	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:101611362G>A	ENST00000370449.4	+	32	4725	c.4612G>A	c.(4612-4614)Gag>Aag	p.E1538K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1538					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGCTGGCATTGAGAATGTGAA	0.378																																																	0													104	105	105					10																	101611362		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4612G>A	10.37:g.101611362G>A	ENSP00000359478:p.Glu1538Lys		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E1538K	ENST00000370449.4	37	c.4612	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676837	0.47886	.	.	ENSG00000023839	ENST00000370449	D	0.88896	-2.44	4.68	4.68	0.58851	.	0.584872	0.18805	N	0.130665	T	0.79028	0.4377	N	0.16833	0.445	0.80722	D	1	B	0.28233	0.204	B	0.27500	0.08	T	0.74118	-0.3768	10	0.22706	T	0.39	-8.5525	10.7847	0.46398	0.0918:0.0:0.9082:0.0	.	1538	Q92887	MRP2_HUMAN	K	1538	ENSP00000359478:E1538K	ENSP00000359478:E1538K	E	+	1	0	ABCC2	101601352	0.244000	0.23889	0.991000	0.47740	0.867000	0.49689	0.721000	0.25911	2.412000	0.81896	0.555000	0.69702	GAG	ABCC2	-	NULL		0.378	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	G	NM_000392		101611362	1	no_errors	ENST00000370449	ensembl	human	known	70_37	missense	SNP	0.831	A	A	101611362	G	A	101611362	3	1	153	1	0	0	0	0	1	0	0	0	53	1291	45	1	4738	1	ABCC2	10	101611362	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1641987	101611362	33923385	721	26695										
WNT8B	7479	genome.wustl.edu	37	chr10	102242219	102242219	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcggccggccgcggcgccatCgccgacacctttcgctccat	12	19	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:102242219C>G	ENST00000343737.5	+	6	830	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	234					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GCGGCGCCATCGCCGACACCT	0.672											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21	24	23					10																	102242219		2200	4297	6497	SO:0001583	missense	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.702C>G	10.37:g.102242219C>G	ENSP00000340677:p.Ile234Met	1365	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.I234M	ENST00000343737.5	37	c.702	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783101	0.16189	.	.	ENSG00000075290	ENST00000343737	T	0.75589	-0.95	5.14	-0.133	0.13485	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	L	0.28054	0.825	0.54753	D	0.999984	B	0.34264	0.446	B	0.43658	0.426	T	0.44081	-0.9351	10	0.30078	T	0.28	.	3.6116	0.08062	0.2788:0.2953:0.0:0.4259	.	234	Q93098	WNT8B_HUMAN	M	234	ENSP00000340677:I234M	ENSP00000340677:I234M	I	+	3	3	WNT8B	102232209	0.845000	0.29573	0.992000	0.48379	0.404000	0.30871	0.027000	0.13621	-0.312000	0.08741	0.313000	0.20887	ATC	WNT8B	-	pfam_Wnt,smart_Wnt,prints_Wnt8		0.672	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	C	NM_003393		102242219	1	no_errors	ENST00000343737	ensembl	human	known	70_37	missense	SNP	0.997	G	G	102242219	C	G	102242219	3	3	153	1	0	0	0	0	1	0	0	0	17428	874	31	1	724	1	WNT8B	10	102242219	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	630857	102242219	33292528	722	26696										
PDZD7	79955	genome.wustl.edu	37	chr10	102778905	102778905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgagctgtagggggcgctgGaggcgcacgaagagacgctg	19	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:102778905G>A	ENST00000370215.3	-	8	1223	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	333	Ser-rich.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGGGGCGCTGGAGGCGCACGA	0.716											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													5	5	5					10																	102778905		2024	4068	6092	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.998C>T	10.37:g.102778905G>A	ENSP00000359234:p.Ser333Phe	1369	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S333F	ENST00000370215.3	37	c.998	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317986	0.81469	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15017	2.46	5.21	5.21	0.72293	.	0.624103	0.16158	N	0.226930	T	0.43831	0.1265	M	0.65498	2.005	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.27905	-1.0060	10	0.59425	D	0.04	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	333;333	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	F	333	ENSP00000359234:S333F	ENSP00000359234:S333F	S	-	2	0	PDZD7	102768895	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	8.315000	0.89983	2.433000	0.82419	0.561000	0.74099	TCC	PDZD7	-	NULL		0.716	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	G	NM_024895		102778905	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102778905	G	A	102778905	3	1	153	1	0	0	0	0	1	0	0	0	11728	1174	41	1	567	1	PDZD7	10	102778905	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	536686	102778905	32755842	723	26697										
GBF1	8729	genome.wustl.edu	37	chr10	104019846	104019846	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgctgcatagtttcggtcatCtaaaggaggttttaaacagt	10	6	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104019846C>G	ENST00000369983.3	+	3	396	c.136C>G	c.(136-138)Cta>Gta	p.L46V	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	46					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTCGGTCATCTAAAGGAGGT	0.338																																																	0													184	176	179					10																	104019846		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.136C>G	10.37:g.104019846C>G	ENSP00000359000:p.Leu46Val		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L46V	ENST00000369983.3	37	c.136	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536494	0.45176	.	.	ENSG00000107862	ENST00000369983	T	0.38560	1.13	5.15	2.0	0.26442	.	0.169630	0.38605	N	0.001629	T	0.54983	0.1892	M	0.86864	2.845	0.42796	D	0.993914	P;D;P;D	0.60575	0.841;0.963;0.772;0.988	P;P;B;P	0.50754	0.54;0.54;0.133;0.649	T	0.61700	-0.7009	10	0.87932	D	0	-6.9531	10.2895	0.43588	0.0:0.6401:0.0:0.3599	.	46;46;46;46	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	46	ENSP00000359000:L46V	ENSP00000359000:L46V	L	+	1	2	GBF1	104009836	0.461000	0.25783	0.993000	0.49108	0.500000	0.33767	0.594000	0.24014	0.195000	0.20347	-0.145000	0.13849	CTA	GBF1	-	superfamily_ARM-type_fold		0.338	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	C			104019846	1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	0.945	G	G	104019846	C	G	104019846	3	3	153	1	0	0	0	0	1	0	0	0	6290	912	32	1	142	1	GBF1	10	104019846	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1240941	104019846	31514901	724	26698										
GBF1	8729	genome.wustl.edu	37	chr10	104122367	104122367	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcacccagcaagagaagaagGagacagccagaccaagctgt	11	11	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104122367G>C	ENST00000369983.3	+	15	2079	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	607					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAGAAGAAGGAGACAGCCAG	0.488																																																	0													163	141	149					10																	104122367		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1819G>C	10.37:g.104122367G>C	ENSP00000359000:p.Glu607Gln		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E607Q	ENST00000369983.3	37	c.1819	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832785	0.71258	.	.	ENSG00000107862	ENST00000369983	T	0.09817	2.94	5.67	5.67	0.87782	.	0.087923	0.85682	D	0.000000	T	0.21550	0.0519	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.985;0.985	P;P;P	0.53006	0.715;0.622;0.622	T	0.02546	-1.1143	10	0.12103	T	0.63	-12.44	20.1421	0.98061	0.0:0.0:1.0:0.0	.	607;607;607	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	607	ENSP00000359000:E607Q	ENSP00000359000:E607Q	E	+	1	0	GBF1	104112357	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.307000	0.78920	2.836000	0.97738	0.655000	0.94253	GAG	GBF1	-	NULL		0.488	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104122367	1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104122367	G	C	104122367	3	2	153	1	0	0	0	0	1	0	0	0	6290	1175	41	1	1873	1	GBF1	10	104122367	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	102521	104122367	31412380	725	26699										
PSD	5662	genome.wustl.edu	37	chr10	104170845	104170845	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agatccgtgttgagcagcatGagcgcacaggtcagcgtgtg	15	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104170845G>A	ENST00000020673.5	-	9	2497	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	PSD_ENST00000406432.1_Silent_p.L657L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	657	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGAGCAGCATGAGCGCACAGG	0.647																																																	0													84	84	84					10																	104170845		2203	4300	6503	SO:0001819	synonymous_variant	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1971C>T	10.37:g.104170845G>A			B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L657	ENST00000020673.5	37	c.1971	CCDS31272.1	10																																																																																			PSD	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.647	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104170845	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	silent	SNP	1.000	A	A	104170845	G	A	104170845	2	1	153	1	0	0	0	0	0	0	0	1	12673	1277	45	1		1	PSD	10	104170845	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	48478	104170845	31363902	726	26700										
ACTR1A	10121	genome.wustl.edu	37	chr10	104244060	104244060	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggggcatggcaaagccctCatagatgggcacagcatggg	16	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104244060C>T	ENST00000369905.4	-	6	577	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ACTR1A_ENST00000545684.1_Missense_Mutation_p.E98K|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'Flank|ACTR1A_ENST00000446605.2_Missense_Mutation_p.E125K|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E172K	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	172					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAAAGCCCTCATAGATGGGC	0.602																																																	0													81	68	72					10																	104244060		2203	4300	6503	SO:0001583	missense	10121			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.514G>A	10.37:g.104244060C>T	ENSP00000358921:p.Glu172Lys		B2R6B0|P42024	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E172K	ENST00000369905.4	37	c.514	CCDS7536.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.242468	0.95272	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.95035	-3.59;-3.59;-3.59	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.91090	3.175	0.80722	D	1	B	0.16802	0.019	B	0.35607	0.206	D	0.94860	0.8021	10	0.87932	D	0	.	19.7891	0.96450	0.0:1.0:0.0:0.0	.	172	P61163	ACTZ_HUMAN	K	172;98;125	ENSP00000358921:E172K;ENSP00000438890:E98K;ENSP00000406028:E125K	ENSP00000358921:E172K	E	-	1	0	ACTR1A	104234050	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.818000	0.86416	2.692000	0.91855	0.561000	0.74099	GAG	ACTR1A	-	pfam_Actin-like,smart_Actin-like		0.602	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1A	HGNC	protein_coding	OTTHUMT00000050053.1	C			104244060	-1	no_errors	ENST00000369905	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104244060	C	T	104244060	3	4	153	1	0	0	0	0	1	0	0	0	209	835	29	1	640	1	ACTR1A	10	104244060	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	73215	104244060	31290687	727	26701										
CYP17A1	1586	genome.wustl.edu	37	chr10	104597060	104597060	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttggcaccagggcaccttCtcttgggccaaaacaaataa	8	12	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104597060C>T	ENST00000369887.3	-	1	230	c.59G>A	c.(58-60)aGa>aAa	p.R20K	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	20					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AGGGCACCTTCTCTTGGGCCA	0.582																																																	0													68	69	68					10																	104597060		2203	4300	6503	SO:0001583	missense	1586			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.59G>A	10.37:g.104597060C>T	ENSP00000358903:p.Arg20Lys		Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R20K	ENST00000369887.3	37	c.59	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132342	0.08981	.	.	ENSG00000148795	ENST00000369887	T	0.70631	-0.5	5.37	-10.7	0.00240	.	4.158540	0.00496	N	0.000145	T	0.39200	0.1069	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.37150	-0.9718	10	0.06757	T	0.87	.	4.836	0.13466	0.0834:0.3201:0.3604:0.236	.	20	P05093	CP17A_HUMAN	K	20	ENSP00000358903:R20K	ENSP00000358903:R20K	R	-	2	0	CYP17A1	104587050	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.452000	0.06787	-3.457000	0.00159	-0.521000	0.04368	AGA	CYP17A1	-	NULL		0.582	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	C	NM_000102		104597060	-1	no_errors	ENST00000369887	ensembl	human	known	70_37	missense	SNP	0.000	T	T	104597060	C	T	104597060	3	4	153	1	0	0	0	0	1	0	0	0	4152	913	32	1	1499	1	CYP17A1	10	104597060	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	353000	104597060	30937687	728	26702										
NEURL	9148	genome.wustl.edu	37	chr10	105344981	105344981	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcacgcagatccgcatcctCggtgagtgcccgcagctgcg	12	15	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:105344981C>T	ENST00000369780.4	+	4	1747	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	NEURL_ENST00000369777.2_Splice_Site_p.L429L	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		446	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCGCATCCTCGGTGAGTGCC	0.672																																																	0													7	7	7					10																	105344981		2003	4011	6014	SO:0001630	splice_region_variant	9148																														ENST00000369780.4:c.1339+1C>T	10.37:g.105344981C>T			Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.L446	ENST00000369780.4	37	c.1338	CCDS7551.1	10																																																																																			NEURL	-	pfscan_Neu_Z		0.672	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1	C		Silent	105344981	1	no_errors	ENST00000369780	ensembl	human	known	70_37	silent	SNP	0.926	T	T	105344981	C	T	105344981	5	4	153	1	0	0	0	0	0	0	1	0	10369	898	31	1	1352	1	NEURL	10	105344981	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	747921	105344981	30189766	729	26703										
SLK	9748	genome.wustl.edu	37	chr10	105727567	105727567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaagaagaagaagcagtacGaacacgtgaagagggacctg	14	6	0	6			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:105727567G>A	ENST00000369755.3	+	1	609	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	SLK_ENST00000335753.4_Missense_Mutation_p.E22K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	22					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGCAGTACGAACACGTGAA	0.478																																					NSCLC(111;540 1651 1927 4474 17706)												0													129	137	134					10																	105727567		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.64G>A	10.37:g.105727567G>A	ENSP00000358770:p.Glu22Lys		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.E22K	ENST00000369755.3	37	c.64	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.216619	0.95104	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70045	-0.45;-0.45	4.57	2.67	0.31697	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.68593	2.085	0.53005	D	0.999968	D;D	0.76494	0.98;0.999	B;D	0.67900	0.38;0.954	T	0.78388	-0.2223	10	0.66056	D	0.02	.	10.9896	0.47541	0.142:0.0:0.858:0.0	.	22;22	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	22	ENSP00000336824:E22K;ENSP00000358770:E22K	ENSP00000336824:E22K	E	+	1	0	SLK	105717557	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	6.367000	0.73099	2.080000	0.62538	0.313000	0.20887	GAA	SLK	-	superfamily_Kinase-like_dom		0.478	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105727567	1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105727567	G	A	105727567	3	1	153	1	0	0	0	0	1	0	0	0	14778	1059	37	1	66	1	SLK	10	105727567	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	382586	105727567	29807180	730	26704										
C10orf78	119392	genome.wustl.edu	37	chr10	105885337	105885337	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtagccagctcttgctttatGagttgcagtcagctgtgtct	11	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:105885337G>A	ENST00000369727.3	+	4	632	c.613G>A	c.(613-615)Gag>Aag	p.E205K	SFR1_ENST00000369729.3_Missense_Mutation_p.E192K|SFR1_ENST00000336358.5_Missense_Mutation_p.E267K	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	205					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CTTGCTTTATGAGTTGCAGTC	0.358																																																	0													90	91	90					10																	105885337		2203	4300	6503	SO:0001583	missense	119392			BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 78", "MEI5 recombination repair protein homolog (S. cerevisiae)"	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.613G>A	10.37:g.105885337G>A	ENSP00000358742:p.Glu205Lys		A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	pfam_Ds-recomb_repair_prot_Mei5	p.E267K	ENST00000369727.3	37	c.799	CCDS31279.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.321074	0.95682	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.55760	0.58;0.52;0.5	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73023	-0.4113	10	0.72032	D	0.01	-25.9038	19.7967	0.96487	0.0:0.0:1.0:0.0	.	267;205	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	K	192;205;267	ENSP00000358744:E192K;ENSP00000358742:E205K;ENSP00000338089:E267K	ENSP00000338089:E267K	E	+	1	0	SFR1	105875327	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	5.789000	0.69029	2.857000	0.98124	0.644000	0.83932	GAG	SFR1	-	pfam_Ds-recomb_repair_prot_Mei5		0.358	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SFR1	HGNC	protein_coding	OTTHUMT00000050191.1	G	NM_145247		105885337	1	no_errors	ENST00000336358	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105885337	G	A	105885337	3	1	153	1	0	0	0	0	1	0	0	0	1621	1291	45	1	627	1	C10orf78	10	105885337	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	157770	105885337	29649410	731	26705										
ADD3	120	genome.wustl.edu	37	chr10	111884032	111884032	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtccccgaaccaaaatcacGgtatgccagtattttatgta	7	10	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:111884032G>A	ENST00000356080.4	+	10	1768	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	ADD3_ENST00000360162.3_Splice_Site_p.T467T|ADD3_ENST00000277900.8_Splice_Site_p.T467T	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	467						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCAAAATCACGGTATGCCAGT	0.353																																																	0													78	77	77					10																	111884032		2203	4300	6503	SO:0001630	splice_region_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1401+1G>A	10.37:g.111884032G>A			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T467	ENST00000356080.4	37	c.1401	CCDS7561.1	10																																																																																			ADD3	-	NULL		0.353	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	G	NM_019903	Silent	111884032	1	no_errors	ENST00000356080	ensembl	human	known	70_37	silent	SNP	0.998	A	A	111884032	G	A	111884032	5	1	153	1	0	0	0	0	0	0	1	0	306	1130	39	2	1435	2	ADD3	10	111884032	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5998695	111884032	23650715	732	26706										
SMC3	9126	genome.wustl.edu	37	chr10	112343202	112343202	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagctatgaaagaagaaaaaGaacagcttagtgctgaaaga	10	5	0	6			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:112343202G>C	ENST00000361804.4	+	11	991	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	289					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGAAGAAAAAGAACAGCTTAG	0.348																																																	0													79	79	79					10																	112343202		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.865G>C	10.37:g.112343202G>C	ENSP00000354720:p.Glu289Gln		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E289Q	ENST00000361804.4	37	c.865	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669065	0.67814	.	.	ENSG00000108055	ENST00000361804	T	0.78126	-1.15	5.68	5.68	0.88126	RecF/RecN/SMC (1);	0.104351	0.64402	D	0.000004	T	0.71195	0.3311	N	0.19112	0.55	0.80722	D	1	P	0.43633	0.813	P	0.44647	0.456	T	0.67841	-0.5566	10	0.24483	T	0.36	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	289	Q9UQE7	SMC3_HUMAN	Q	289	ENSP00000354720:E289Q	ENSP00000354720:E289Q	E	+	1	0	SMC3	112333192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.278000	0.95766	2.835000	0.97688	0.650000	0.86243	GAA	SMC3	-	pfam_RecF/RecN/SMC		0.348	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112343202	1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112343202	G	C	112343202	3	2	153	1	0	0	0	0	1	0	0	0	14814	943	33	1	907	1	SMC3	10	112343202	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	459170	112343202	23191545	733	26707										
TCF7L2	6934	genome.wustl.edu	37	chr10	114910865	114910865	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatcgtcccagagtgatgtCggctcactccatagttcgta	10	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:114910865C>T	ENST00000355995.4	+	9	1491	c.984C>T	c.(982-984)gtC>gtT	p.V328V	TCF7L2_ENST00000545257.1_Silent_p.V328V|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355717.4_Silent_p.V352V|TCF7L2_ENST00000369397.4_Silent_p.V305V|TCF7L2_ENST00000538897.1_Silent_p.V328V|TCF7L2_ENST00000352065.5_Silent_p.V305V|TCF7L2_ENST00000542695.1_Silent_p.V44V|TCF7L2_ENST00000543371.1_Silent_p.V328V|TCF7L2_ENST00000536810.1_Silent_p.V328V|TCF7L2_ENST00000369389.1_Silent_p.V39V|TCF7L2_ENST00000534894.1_Silent_p.V328V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	328	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGAGTGATGTCGGCTCACTCC	0.537			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													286	221	243					10																	114910865		2203	4300	6503	SO:0001819	synonymous_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.984C>T	10.37:g.114910865C>T			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V328	ENST00000355995.4	37	c.984		10																																																																																			TCF7L2	-	NULL		0.537	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		C	NM_030756		114910865	1	no_errors	ENST00000355995	ensembl	human	known	70_37	silent	SNP	0.998	T	T	114910865	C	T	114910865	2	4	153	1	0	0	0	0	0	0	0	1	15728	871	31	1		1	TCF7L2	10	114910865	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2567663	114910865	20623882	734	26708										
CASP7	840	genome.wustl.edu	37	chr10	115485290	115485290	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaaacccaaactcttcttCattcaggtaatctcttttca	4	11	6	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:115485290C>T	ENST00000345633.4	+	6	930	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CASP7_ENST00000369318.3_Silent_p.F182F|CASP7_ENST00000369315.1_Silent_p.F182F|CASP7_ENST00000369331.4_Intron|CASP7_ENST00000452490.2_Silent_p.F157F|CASP7_ENST00000369321.2_Silent_p.F215F	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	182					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AACTCTTCTTCATTCAGGTAA	0.398																																																	0													52	54	53					10																	115485290		2203	4300	6503	SO:0001819	synonymous_variant	840			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.546C>T	10.37:g.115485290C>T			B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.F215	ENST00000345633.4	37	c.645	CCDS7581.1	10																																																																																			CASP7	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.398	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP7	HGNC	protein_coding	OTTHUMT00000050439.1	C	NM_033338		115485290	1	no_errors	ENST00000369321	ensembl	human	known	70_37	silent	SNP	1.000	T	T	115485290	C	T	115485290	2	4	153	1	0	0	0	0	0	0	0	1	2681	825	29	1		1	CASP7	10	115485290	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	574425	115485290	20049457	735	26709										
GFRA1	2674	genome.wustl.edu	37	chr10	117824046	117824046	+	Frame_Shift_Del	DEL	C	C	-													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcaccgagaccttctttttCataattaccctgtaaggaag							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:117824046delC	ENST00000355422.6	-	11	1811	c.1261delG	c.(1261-1263)gaafs	p.E421fs	GFRA1_ENST00000369236.1_Frame_Shift_Del_p.E416fs|GFRA1_ENST00000439649.3_Frame_Shift_Del_p.E416fs|GFRA1_ENST00000544592.1_Frame_Shift_Del_p.E300fs	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	421					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTTCTTTTTCATAATTACCC	0.488																																					Ovarian(128;329 1725 45498 46808 50759)												0													156	127	137					10																	117824046		2203	4300	6503	SO:0001589	frameshift_variant	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1261delG	10.37:g.117824046delC	ENSP00000347591:p.Glu421fs		A8KA21|O15507|O43912	Frame_Shift_Del	DEL	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.E421fs	ENST00000355422.6	37	c.1261	CCDS44481.1	10																																																																																			GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.488	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	C	NM_145793		117824046	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	frame_shift_del	DEL	0.987	-	-	117824046	C	-	117824046	7	5	153	1	0	1	0	1	0	0	0	0	6366	835	29	0	140	0	GFRA1	10	117824046	Frame_Shift_Del	DEL	C	TCGA-IR-A3LK-01A-12D-A20U-09	2338756	117824046	17710701	736	26710										
TIAL1	7073	genome.wustl.edu	37	chr10	121342023	121342023	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctaatgcagcagctgcatctCtgtgttcataaaattccaca	6	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:121342023C>G	ENST00000436547.2	-	3	220	c.176G>C	c.(175-177)aGa>aCa	p.R59T	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_Missense_Mutation_p.R76T	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		AGCTGCATCTCTGTGTTCATA	0.398																																																	0													111	117	115					10																	121342023		2203	4300	6503	SO:0001583	missense	7073			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.176G>C	10.37:g.121342023C>G	ENSP00000394902:p.Arg59Thr		A8K3T0|A8K4L9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R76T	ENST00000436547.2	37	c.227	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799911	0.70567	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.17213	3.34;2.29;3.34;3.34	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042515	0.85682	D	0.000000	T	0.19046	0.0457	N	0.17901	0.54	0.80722	D	1	B;P	0.41848	0.005;0.763	B;P	0.46208	0.02;0.507	T	0.01848	-1.1261	10	0.27082	T	0.32	-22.1808	20.3018	0.98617	0.0:1.0:0.0:0.0	.	76;59	A8K4L9;Q01085	.;TIAR_HUMAN	T	76;59;20;20	ENSP00000358089:R76T;ENSP00000394902:R59T;ENSP00000403573:R20T;ENSP00000358082:R20T	ENSP00000358082:R20T	R	-	2	0	TIAL1	121332013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.855000	0.69510	2.799000	0.96334	0.650000	0.86243	AGA	TIAL1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.398	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	C	NM_022333, NM_003252		121342023	-1	no_errors	ENST00000369093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121342023	C	G	121342023	3	3	153	1	0	0	0	0	1	0	0	0	15919	913	32	1	991	1	TIAL1	10	121342023	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3517977	121342023	14192724	737	26711										
CPXM2	119587	genome.wustl.edu	37	chr10	125539727	125539727	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgcttaaaatccaggtcatCagtggtggtcatctcgttcc	10	10	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:125539727C>T	ENST00000241305.3	-	7	1088	c.934G>A	c.(934-936)Gat>Aat	p.D312N	RP11-391M7.3_ENST00000446888.1_RNA|CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	312					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCAGGTCATCAGTGGTGGTC	0.418																																																	0													203	197	199					10																	125539727		2203	4300	6503	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.934G>A	10.37:g.125539727C>T	ENSP00000241305:p.Asp312Asn		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.D312N	ENST00000241305.3	37	c.934	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884977	0.72410	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96459	-4.02	4.62	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	M	0.65498	2.005	0.80722	D	1	D	0.61697	0.99	P	0.58013	0.831	D	0.96351	0.9258	10	0.56958	D	0.05	-9.7517	12.4131	0.55478	0.0:0.9177:0.0:0.0823	.	312	Q8N436	CPXM2_HUMAN	N	312;145;312	ENSP00000241305:D312N	ENSP00000241305:D312N	D	-	1	0	CPXM2	125529717	1.000000	0.71417	0.305000	0.25099	0.432000	0.31715	7.353000	0.79414	1.169000	0.42739	-0.136000	0.14681	GAT	CPXM2	-	NULL		0.418	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	C	NM_198148		125539727	-1	no_errors	ENST00000241305	ensembl	human	known	70_37	missense	SNP	0.996	T	T	125539727	C	T	125539727	3	4	153	1	0	0	0	0	1	0	0	0	3843	826	29	1	1368	1	CPXM2	10	125539727	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4197704	125539727	9995020	738	26712										
DOCK1	1793	genome.wustl.edu	37	chr10	128780198	128780198	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaagggtatatttcctgcttCatatattcatcttaaagaag	6	6	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:128780198C>T	ENST00000280333.6	+	4	297	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	63	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTGCTTCATATATTCAT	0.348																																																	0													97	89	91					10																	128780198		1824	4080	5904	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.188C>T	10.37:g.128780198C>T	ENSP00000280333:p.Ser63Leu		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.S63L	ENST00000280333.6	37	c.188		10	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787231	0.70337	.	.	ENSG00000150760	ENST00000280333	T	0.55052	0.54	4.88	4.88	0.63580	Src homology-3 domain (3);	0.122032	0.53938	D	0.000045	T	0.59810	0.2221	M	0.75884	2.315	0.46478	D	0.99906	P;P	0.48640	0.913;0.862	P;B	0.46885	0.53;0.406	T	0.66968	-0.5789	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.8479:0.1521:0.0	.	63;63	B2RUU3;Q14185	.;DOCK1_HUMAN	L	63	ENSP00000280333:S63L	ENSP00000280333:S63L	S	+	2	0	DOCK1	128670188	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.253000	0.65452	2.549000	0.85964	0.650000	0.86243	TCA	DOCK1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.348	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		128780198	1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	0.998	T	T	128780198	C	T	128780198	3	4	153	1	0	0	0	0	1	0	0	0	4694	838	29	1	202	1	DOCK1	10	128780198	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3240471	128780198	6754549	739	26713										
KNDC1	85442	genome.wustl.edu	37	chr10	135010587	135010587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggcagctacctcctccagcGaggcatggacagccggaaaa	12	14	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:135010587G>A	ENST00000304613.3	+	11	1781	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	KNDC1_ENST00000368571.2_Missense_Mutation_p.R522Q|KNDC1_ENST00000368572.2_Missense_Mutation_p.R587Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	587	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCCAGCGAGGCATGGAC	0.662																																																	0													74	56	62					10																	135010587		2203	4300	6503	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1760G>A	10.37:g.135010587G>A	ENSP00000304437:p.Arg587Gln		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R587Q	ENST00000304613.3	37	c.1760	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507660	0.44558	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11169	2.8;2.8;2.8	3.76	3.76	0.43208	KIND (2);	0.240754	0.28104	N	0.016590	T	0.21801	0.0525	L	0.43152	1.355	0.37871	D	0.930055	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.962	T	0.02257	-1.1187	10	0.38643	T	0.18	-12.0526	11.2954	0.49276	0.0:0.0:1.0:0.0	.	522;587	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	Q	587;587;522	ENSP00000304437:R587Q;ENSP00000357561:R587Q;ENSP00000357560:R522Q	ENSP00000304437:R587Q	R	+	2	0	KNDC1	134860577	0.998000	0.40836	0.973000	0.42090	0.387000	0.30353	2.615000	0.46368	2.135000	0.66039	0.467000	0.42956	CGA	KNDC1	-	superfamily_Kinase-like_dom,smart_KIND		0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	G	NM_152643		135010587	1	no_errors	ENST00000368572	ensembl	human	known	70_37	missense	SNP	0.996	A	A	135010587	G	A	135010587	3	1	153	1	0	0	0	0	1	0	0	0	8446	1058	37	1	1802	1	KNDC1	10	135010587	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6230389	135010587	524160	740	26714										
NLRP6	171389	genome.wustl.edu	37	chr11	281202	281202	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggagctgccgggcgtgctgGagacagaggtcacctaccag	16	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:281202G>C	ENST00000312165.5	+	4	1468	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	NLRP6_ENST00000534750.1_Missense_Mutation_p.E490Q	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	490	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCGTGCTGGAGACAGAGGT	0.622																																																	0													82	79	80					11																	281202		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1468G>C	11.37:g.281202G>C	ENSP00000309767:p.Glu490Gln		A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E490Q	ENST00000312165.5	37	c.1468	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	2.705	-0.270074	0.05716	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74315	-0.83;-0.79	3.26	0.0728	0.14388	NACHT nucleoside triphosphatase (1);	0.662806	0.12456	N	0.467327	T	0.53094	0.1775	N	0.25245	0.725	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.10450	0.005;0.005	T	0.30794	-0.9966	10	0.24483	T	0.36	.	3.7327	0.08499	0.3361:0.1863:0.4776:0.0	.	490;490	E9PJZ8;P59044	.;NALP6_HUMAN	Q	490	ENSP00000433617:E490Q;ENSP00000309767:E490Q	ENSP00000309767:E490Q	E	+	1	0	NLRP6	271202	0.142000	0.22610	0.022000	0.16811	0.818000	0.46254	0.257000	0.18369	0.030000	0.15379	0.455000	0.32223	GAG	NLRP6	-	pfscan_NACHT_NTPase		0.622	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281202	1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.001	C	C	281202	G	C	281202	3	2	153	1	0	0	0	0	1	0	0	0	10505	1175	41	1	1482	1	NLRP6	11	281202	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		281202	134725314	741	26715										
PKP3	11187	genome.wustl.edu	37	chr11	400063	400063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctggtgttgagccccctgtCgggggctgggggtccccccc	16	16	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:400063C>T	ENST00000331563.2	+	6	1446	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	457					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCCCTGTCGGGGGCTGGG	0.662																																																	0													17	19	18					11																	400063		2166	4276	6442	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1370C>T	11.37:g.400063C>T	ENSP00000331678:p.Ser457Leu		F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S457L	ENST00000331563.2	37	c.1370	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	19.52	3.842304	0.71488	.	.	ENSG00000184363	ENST00000331563	T	0.78246	-1.16	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.078495	0.53938	D	0.000058	D	0.88130	0.6354	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.90387	0.4392	10	0.66056	D	0.02	-7.8417	16.9419	0.86220	0.0:1.0:0.0:0.0	.	457	Q9Y446	PKP3_HUMAN	L	457	ENSP00000331678:S457L	ENSP00000331678:S457L	S	+	2	0	PKP3	390063	0.987000	0.35691	0.936000	0.37596	0.212000	0.24457	3.560000	0.53763	2.061000	0.61500	0.543000	0.68304	TCG	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo		0.662	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		400063	1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	0.999	T	T	400063	C	T	400063	3	4	153	1	0	0	0	0	1	0	0	0	12010	893	31	1	1392	1	PKP3	11	400063	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	118861	400063	134606453	742	26716										
CTSD	1509	genome.wustl.edu	37	chr11	1780778	1780778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagcagtttgcagtggatgGaggggacccacaggttggag	17	8	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:1780778G>C	ENST00000236671.2	-	3	452	c.320C>G	c.(319-321)tCc>tGc	p.S107C	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCAGTGGATGGAGGGGACCCA	0.657																																																	0													72	69	70					11																	1780778		2202	4299	6501	SO:0001583	missense	1509			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.320C>G	11.37:g.1780778G>C	ENSP00000236671:p.Ser107Cys		Q6IB57	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.S107C	ENST00000236671.2	37	c.320	CCDS7725.1	11	.	.	.	.	.	.	.	.	.	.	g	18.04	3.533846	0.64972	.	.	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.62105	0.22;0.05;0.23	4.2	4.2	0.49525	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063133	0.64402	D	0.000003	D	0.85579	0.5729	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91038	0.4869	10	0.87932	D	0	.	16.9432	0.86224	0.0:0.0:1.0:0.0	.	107	P07339	CATD_HUMAN	C	107;92;72	ENSP00000236671:S107C;ENSP00000415036:S92C;ENSP00000356164:S72C	ENSP00000236671:S107C	S	-	2	0	CTSD	1737354	1.000000	0.71417	0.888000	0.34837	0.244000	0.25665	8.747000	0.91610	2.061000	0.61500	0.486000	0.48141	TCC	CTSD	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	G	NM_001909		1780778	-1	no_errors	ENST00000236671	ensembl	human	known	70_37	missense	SNP	0.999	C	C	1780778	G	C	1780778	3	2	153	1	0	0	0	0	1	0	0	0	4037	1174	41	1	946	1	CTSD	11	1780778	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1380715	1780778	133225738	743	26717										
PHLDA2	7262	genome.wustl.edu	37	chr11	2950567	2950567	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgcttctccaactcgccctCgcgtagcacctcgtcggggg	12	17	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:2950567C>G	ENST00000314222.4	-	1	118	c.28G>C	c.(28-30)Gag>Cag	p.E10Q		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	10	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTCGCCCTCGCGTAGCACC	0.697																																																	0													13	15	14					11																	2950567		2195	4288	6483	SO:0001583	missense	7262			AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.28G>C	11.37:g.2950567C>G	ENSP00000319231:p.Glu10Gln		O00496	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	p.E10Q	ENST00000314222.4	37	c.28	CCDS7741.1	11	.	.	.	.	.	.	.	.	.	.	C	30	5.056827	0.93793	.	.	ENSG00000181649	ENST00000314222	T	0.56103	0.48	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.066775	0.56097	U	0.000021	T	0.71995	0.3406	M	0.77103	2.36	0.49130	D	0.999755	D	0.89917	1.0	D	0.76071	0.987	T	0.77975	-0.2385	10	0.72032	D	0.01	-19.6391	15.3955	0.74790	0.0:1.0:0.0:0.0	.	10	Q53GA4	PHLA2_HUMAN	Q	10	ENSP00000319231:E10Q	ENSP00000319231:E10Q	E	-	1	0	PHLDA2	2907143	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.689000	0.74562	1.660000	0.50760	0.313000	0.20887	GAG	PHLDA2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.697	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDA2	HGNC	protein_coding	OTTHUMT00000030116.1	C	NM_003311		2950567	-1	no_errors	ENST00000314222	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2950567	C	G	2950567	3	3	153	1	0	0	0	0	1	0	0	0	11873	893	31	1	434	1	PHLDA2	11	2950567	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1169789	2950567	132055949	744	26718										
ZNF195	7748	genome.wustl.edu	37	chr11	3381540	3381540	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagtattacttatattacgtCtatgtaaatttgaaaagtta	5	4	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:3381540C>G	ENST00000399602.4	-	6	824	c.698G>C	c.(697-699)aGa>aCa	p.R233T	ZNF195_ENST00000429541.2_Missense_Mutation_p.R165T|ZNF195_ENST00000343338.7_Missense_Mutation_p.R165T|ZNF195_ENST00000005082.9_Missense_Mutation_p.R210T|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Missense_Mutation_p.R161T|ZNF195_ENST00000526601.1_Missense_Mutation_p.R214T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	233	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATATTACGTCTATGTAAATT	0.289																																																	0													35	34	34					11																	3381540		1870	4130	6000	SO:0001583	missense	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.698G>C	11.37:g.3381540C>G	ENSP00000382511:p.Arg233Thr		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R233T	ENST00000399602.4	37	c.698	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	c	1.615	-0.523061	0.04141	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.29397	2.37;2.37;2.37;2.37;2.37;2.37;1.57	0.742	-1.48	0.08745	.	.	.	.	.	T	0.41282	0.1152	L	0.48986	1.54	0.09310	N	1	B;P;B;P;D;P	0.59357	0.023;0.956;0.13;0.945;0.985;0.945	B;P;B;P;D;P	0.69824	0.035;0.849;0.077;0.765;0.966;0.765	T	0.30149	-0.9988	9	0.46703	T	0.11	.	5.644	0.17579	0.0:0.4589:0.0:0.5411	.	214;92;210;165;233;161	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	T	161;233;165;165;210;214;188	ENSP00000346613:R161T;ENSP00000382511:R233T;ENSP00000344483:R165T;ENSP00000387998:R165T;ENSP00000005082:R210T;ENSP00000435828:R214T;ENSP00000431937:R188T	ENSP00000005082:R210T	R	-	2	0	ZNF195	3338116	0.024000	0.19004	0.000000	0.03702	0.004000	0.04260	-0.589000	0.05767	-1.123000	0.02940	-0.671000	0.03813	AGA	ZNF195	-	NULL		0.289	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	HGNC	protein_coding	OTTHUMT00000032321.2	C			3381540	-1	no_errors	ENST00000399602	ensembl	human	known	70_37	missense	SNP	0.000	G	G	3381540	C	G	3381540	3	3	153	1	0	0	0	0	1	0	0	0	17788	913	32	1	1195	1	ZNF195	11	3381540	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	430973	3381540	131624976	745	26719										
OR52A1	23538	genome.wustl.edu	37	chr11	5172670	5172670	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taaggtggattttatgaacaGaacatttttaccacatgaat	7	5	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:5172670G>C	ENST00000380367.1	-	2	1347	c.930C>G	c.(928-930)ttC>ttG	p.F310L	OR52A1_ENST00000328942.1_Missense_Mutation_p.F310L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	310					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.F310L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTATGAACAGAACATTTTTA	0.348																																																	1	Substitution - Missense(1)	breast(1)											116	126	122					11																	5172670		2201	4297	6498	SO:0001583	missense	23538			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.930C>G	11.37:g.5172670G>C	ENSP00000369725:p.Phe310Leu		Q6IF31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F310L	ENST00000380367.1	37	c.930	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369086	0.24771	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.31769	1.48;1.48	5.14	-7.02	0.01589	.	0.586420	0.15266	N	0.271536	T	0.09468	0.0233	N	0.13272	0.32	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.28554	-1.0040	10	0.14656	T	0.56	.	0.0271	0.00004	0.2841:0.2082:0.1904:0.3173	.	310	Q9UKL2	O52A1_HUMAN	L	310	ENSP00000369725:F310L;ENSP00000333684:F310L	ENSP00000333684:F310L	F	-	3	2	OR52A1	5129246	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.154000	0.10130	-1.220000	0.02594	0.650000	0.86243	TTC	OR52A1	-	NULL		0.348	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	G	NM_012375		5172670	-1	no_errors	ENST00000328942	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5172670	G	C	5172670	3	2	153	1	0	0	0	0	1	0	0	0	11132	933	33	1	10	1	OR52A1	11	5172670	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1791130	5172670	129833846	746	26720										
PRKCDBP	112464	genome.wustl.edu	37	chr11	6340548	6340548	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctccggccaggcccaaggcGaggcggcttgaccggggtgg	19	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:6340548G>C	ENST00000303927.3	-	2	801	c.631C>G	c.(631-633)Cgc>Ggc	p.R211G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.R243G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	211					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCCAAGGCGAGGCGGCTTG	0.716																																																	0													26	34	31					11																	6340548		2191	4284	6475	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.631C>G	11.37:g.6340548G>C	ENSP00000307292:p.Arg211Gly			Missense_Mutation	SNP	NULL	p.R211G	ENST00000303927.3	37	c.631	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314851	0.81358	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.67171	-0.25;-0.25	5.08	5.08	0.68730	.	0.092240	0.56097	D	0.000031	T	0.70237	0.3201	N	0.19112	0.55	0.37581	D	0.919812	D	0.89917	1.0	D	0.85130	0.997	T	0.77138	-0.2698	10	0.87932	D	0	-14.8175	13.9712	0.64242	0.0:0.0:1.0:0.0	.	211	Q969G5	PRDBP_HUMAN	G	211;243	ENSP00000307292:R211G;ENSP00000432047:R243G	ENSP00000307292:R211G	R	-	1	0	PRKCDBP	6297124	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.474000	0.60203	2.368000	0.80403	0.561000	0.74099	CGC	PRKCDBP	-	NULL		0.716	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	G	NM_145040		6340548	-1	no_errors	ENST00000303927	ensembl	human	known	70_37	missense	SNP	0.995	C	C	6340548	G	C	6340548	3	2	153	1	0	0	0	0	1	0	0	0	12537	1058	37	1	158	1	PRKCDBP	11	6340548	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1167878	6340548	128665968	747	26721										
OR10A5	144124	genome.wustl.edu	37	chr11	6867247	6867247	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcttcttctttggggtagctGaatgcttcctcctggctacc	9	12	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:6867247G>C	ENST00000299454.4	+	1	365	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.E116Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGGGTAGCTGAATGCTTCCT	0.527																																					Pancreas(44;21 1072 25662 28041 45559)												0													122	120	120					11																	6867247		2201	4296	6497	SO:0001583	missense	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.334G>C	11.37:g.6867247G>C	ENSP00000299454:p.Glu112Gln		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E116Q	ENST00000299454.4	37	c.346	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	15.53	2.859725	0.51376	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.02177	4.41;4.41	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.097595	0.44688	D	0.000432	T	0.13670	0.0331	M	0.88512	2.96	0.28455	N	0.91616	D	0.76494	0.999	D	0.68353	0.957	T	0.00950	-1.1503	10	0.66056	D	0.02	.	13.4894	0.61386	0.0:0.0:1.0:0.0	.	112	Q9H207	O10A5_HUMAN	Q	112;116	ENSP00000299454:E112Q;ENSP00000369159:E116Q	ENSP00000299454:E112Q	E	+	1	0	OR10A5	6823823	0.999000	0.42202	0.983000	0.44433	0.937000	0.57800	3.035000	0.49759	2.265000	0.75225	0.585000	0.79938	GAA	OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	G	NM_178168		6867247	1	no_errors	ENST00000379831	ensembl	human	known	70_37	missense	SNP	0.772	C	C	6867247	G	C	6867247	3	2	153	1	0	0	0	0	1	0	0	0	10917	1291	45	1	336	1	OR10A5	11	6867247	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	526699	6867247	128139269	748	26722										
ABCC8	6833	genome.wustl.edu	37	chr11	17496434	17496434	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctcagacagtcactcaccCatcagacaggatgccctctg	7	16	5	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:17496434C>T	ENST00000389817.3	-	2	357	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	ABCC8_ENST00000302539.4_Splice_Site_p.G97R			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	97					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTCACTCACCCATCAGACAGG	0.532																																																	0													162	122	135					11																	17496434		2200	4293	6493	SO:0001630	splice_region_variant	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.290+1G>A	11.37:g.17496434C>T			A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G97R	ENST00000389817.3	37	c.289	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803165	0.50315	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.97279	-4.32;-4.32	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	L	0.54323	1.7	0.53005	D	0.999962	B;B	0.14438	0.01;0.01	B;B	0.17722	0.019;0.008	D	0.93243	0.6628	10	0.16420	T	0.52	.	18.4048	0.90532	0.0:1.0:0.0:0.0	.	97;97	B7Z4N0;Q09428	.;ABCC8_HUMAN	R	97;97;111	ENSP00000374467:G97R;ENSP00000303960:G97R	ENSP00000303960:G97R	G	-	1	0	ABCC8	17453010	0.995000	0.38212	0.999000	0.59377	0.929000	0.56500	2.209000	0.42806	2.357000	0.79964	0.585000	0.79938	GGG	ABCC8	-	NULL		0.532	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	C	NM_000352	Missense_Mutation	17496434	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17496434	C	T	17496434	5	4	153	1	0	0	0	0	0	0	1	0	58	608	21	4	4608	4	ABCC8	11	17496434	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10629187	17496434	117510082	749	26723										
LGR4	55366	genome.wustl.edu	37	chr11	27390317	27390317	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgattgctcttcccatttttCattatatcttttgcagataa	4	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:27390317C>G	ENST00000379214.4	-	18	2396	c.1953G>C	c.(1951-1953)atG>atC	p.M651I	LGR4_ENST00000389858.4_Missense_Mutation_p.M627I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	651					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TCCCATTTTTCATTATATCTT	0.418																																																	0													86	84	84					11																	27390317		2202	4299	6501	SO:0001583	missense	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1953G>C	11.37:g.27390317C>G	ENSP00000368516:p.Met651Ile		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.M651I	ENST00000379214.4	37	c.1953	CCDS31449.1	11	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219828	0.01542	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.85556	-2.0;-2.0	5.81	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.636089	0.17343	N	0.177691	T	0.68339	0.2990	N	0.10874	0.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61720	-0.7005	10	0.13470	T	0.59	.	8.8884	0.35418	0.2821:0.5983:0.1196:0.0	.	627;651	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	651;627	ENSP00000368516:M651I;ENSP00000374508:M627I	ENSP00000368516:M651I	M	-	3	0	LGR4	27346893	0.961000	0.32948	0.981000	0.43875	0.022000	0.10575	0.175000	0.16762	2.741000	0.93983	0.650000	0.86243	ATG	LGR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	C	NM_018490		27390317	-1	no_errors	ENST00000379214	ensembl	human	known	70_37	missense	SNP	0.999	G	G	27390317	C	G	27390317	3	3	153	1	0	0	0	0	1	0	0	0	8776	826	29	1	906	1	LGR4	11	27390317	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9893883	27390317	107616199	750	26724										
NAT10	55226	genome.wustl.edu	37	chr11	34156767	34156767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctgctgcagatgtactatGaaggcaggtttccttgtctg	12	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:34156767G>A	ENST00000257829.3	+	19	2163	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	NAT10_ENST00000531159.2_Missense_Mutation_p.E581K|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	653	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GATGTACTATGAAGGCAGGTT	0.532																																																	0													141	124	130					11																	34156767		2202	4298	6500	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1957G>A	11.37:g.34156767G>A	ENSP00000257829:p.Glu653Lys		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E653K	ENST00000257829.3	37	c.1957	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009965	0.75046	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.32753	1.44;1.44	5.8	3.9	0.45041	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.088945	0.85682	N	0.000000	T	0.36771	0.0979	M	0.79614	2.46	0.80722	D	1	P	0.38148	0.62	B	0.39465	0.3	T	0.16897	-1.0387	10	0.44086	T	0.13	-15.4389	11.3508	0.49587	0.0678:0.1275:0.8046:0.0	.	653	Q9H0A0	NAT10_HUMAN	K	653;581	ENSP00000257829:E653K;ENSP00000433011:E581K	ENSP00000257829:E653K	E	+	1	0	NAT10	34113343	1.000000	0.71417	0.504000	0.27639	0.906000	0.53458	6.276000	0.72601	0.781000	0.33589	0.561000	0.74099	GAA	NAT10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	G	NM_024662		34156767	1	no_errors	ENST00000257829	ensembl	human	known	70_37	missense	SNP	0.997	A	A	34156767	G	A	34156767	3	1	153	1	0	0	0	0	1	0	0	0	10197	1291	45	1	2027	1	NAT10	11	34156767	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6766450	34156767	100849749	751	26725										
CREB3L1	90993	genome.wustl.edu	37	chr11	46329438	46329438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaagcaggagcagagcccgGagctgcccgtggaccctctg	15	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:46329438G>C	ENST00000529193.1	+	3	854	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	CREB3L1_ENST00000288400.3_Missense_Mutation_p.E135Q			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	135					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GCAGAGCCCGGAGCTGCCCGT	0.682			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													10	13	12					11																	46329438		2007	4151	6158	SO:0001583	missense	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.403G>C	11.37:g.46329438G>C	ENSP00000434939:p.Glu135Gln		Q8N2D5|Q96CP0	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.E135Q	ENST00000529193.1	37	c.403	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.417891	0.83449	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000534787	T;T;T	0.48836	0.8;0.8;0.8	4.79	4.79	0.61399	.	0.343284	0.27393	N	0.019579	T	0.49389	0.1554	L	0.40543	1.245	0.33539	D	0.594671	D	0.58268	0.982	P	0.52793	0.709	T	0.53899	-0.8373	10	0.15952	T	0.53	-12.6276	16.387	0.83514	0.0:0.0:1.0:0.0	.	135	Q96BA8	CR3L1_HUMAN	Q	135;135;89	ENSP00000434939:E135Q;ENSP00000288400:E135Q;ENSP00000431677:E89Q	ENSP00000288400:E135Q	E	+	1	0	CREB3L1	46286014	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.238000	0.65366	2.379000	0.81126	0.555000	0.69702	GAG	CREB3L1	-	NULL		0.682	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	G	NM_052854		46329438	1	no_errors	ENST00000288400	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46329438	G	C	46329438	3	2	153	1	0	0	0	0	1	0	0	0	3861	1175	41	1	413	1	CREB3L1	11	46329438	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	12172671	46329438	88677078	752	26726										
MADD	8567	genome.wustl.edu	37	chr11	47317492	47317492	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttggagctgacagtgacttGagcagcaatgcaggtgatgg	15	7	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:47317492G>C	ENST00000311027.5	+	24	3810	c.3645G>C	c.(3643-3645)ttG>ttC	p.L1215F	MADD_ENST00000395336.3_Missense_Mutation_p.L1215F|MADD_ENST00000349238.3_Missense_Mutation_p.L1197F|MADD_ENST00000395344.3_Missense_Mutation_p.L1130F|MADD_ENST00000402799.1_Missense_Mutation_p.L1134F|MADD_ENST00000406482.1_Missense_Mutation_p.L1134F|MADD_ENST00000342922.4_Missense_Mutation_p.L1177F|MADD_ENST00000405573.2_Missense_Mutation_p.L25F|MADD_ENST00000402192.2_Missense_Mutation_p.L1176F|MADD_ENST00000407859.3_Missense_Mutation_p.L1154F	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAGTGACTTGAGCAGCAATG	0.527																																																	0													128	130	129					11																	47317492		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3645G>C	11.37:g.47317492G>C	ENSP00000310933:p.Leu1215Phe			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L1215F	ENST00000311027.5	37	c.3645	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505257	0.64410	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.53640	3.08;2.89;2.89;3.08;3.18;2.88;3.07;3.17;3.22;0.61	5.74	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.51295	0.1666	L	0.32530	0.975	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.998;0.999	T	0.45396	-0.9264	10	0.48119	T	0.1	-11.4388	6.1409	0.20259	0.0665:0.2549:0.5462:0.1324	.	25;1130;1130;1215;1134;1134;1134;1197;1154;1215;1177	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	F	1177;1134;1134;1134;1197;1215;1154;1130;1215;1176;25	ENSP00000343902:L1177F;ENSP00000385585:L1134F;ENSP00000384435:L1134F;ENSP00000304505:L1197F;ENSP00000310933:L1215F;ENSP00000384204:L1154F;ENSP00000378753:L1130F;ENSP00000378745:L1215F;ENSP00000384287:L1176F;ENSP00000384483:L25F	ENSP00000310933:L1215F	L	+	3	2	MADD	47274068	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.098000	0.50259	0.310000	0.22990	-0.176000	0.13171	TTG	MADD	-	NULL		0.527	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47317492	1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47317492	G	C	47317492	3	2	153	1	0	0	0	0	1	0	0	0	9175	1281	45	1	3735	1	MADD	11	47317492	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	988054	47317492	87689024	753	26727										
MADD	8567	genome.wustl.edu	37	chr11	47333367	47333367	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtacagccagcaaatcaatGaggtgcttgatcagctggcg	12	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:47333367G>C	ENST00000311027.5	+	29	4408	c.4243G>C	c.(4243-4245)Gag>Cag	p.E1415Q	MADD_ENST00000405573.2_Missense_Mutation_p.E225Q|MADD_ENST00000395336.3_Missense_Mutation_p.E1415Q|MADD_ENST00000349238.3_Missense_Mutation_p.E1376Q|MADD_ENST00000395344.3_Missense_Mutation_p.E1309Q|MADD_ENST00000402799.1_Missense_Mutation_p.E1313Q|MADD_ENST00000406482.1_Missense_Mutation_p.E1313Q|MADD_ENST00000342922.4_Missense_Mutation_p.E1356Q|MADD_ENST00000402192.2_Missense_Mutation_p.E1355Q|MADD_ENST00000407859.3_Missense_Mutation_p.E1333Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCAAATCAATGAGGTGCTTGA	0.502																																																	0													99	86	90					11																	47333367		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4243G>C	11.37:g.47333367G>C	ENSP00000310933:p.Glu1415Gln			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1415Q	ENST00000311027.5	37	c.4243	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115485	0.77323	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46819	3.49;3.37;3.38;3.5;3.46;3.37;3.37;3.46;3.5;0.86	5.14	5.14	0.70334	.	0.194017	0.45361	D	0.000368	T	0.43255	0.1239	N	0.11064	0.09	0.80722	D	1	P;P;P;P;P;P;P;P;P;P;P	0.48640	0.913;0.611;0.469;0.871;0.604;0.604;0.73;0.64;0.765;0.658;0.64	P;B;B;P;P;P;B;P;P;P;P	0.52386	0.614;0.354;0.354;0.697;0.557;0.557;0.433;0.697;0.635;0.501;0.635	T	0.41538	-0.9503	10	0.31617	T	0.26	-17.905	18.6155	0.91302	0.0:0.0:1.0:0.0	.	225;1309;1309;1415;1313;1313;1313;1376;1333;1415;1356	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	1356;1313;1313;1313;1376;1415;1333;1309;1415;1355;225	ENSP00000343902:E1356Q;ENSP00000385585:E1313Q;ENSP00000384435:E1313Q;ENSP00000304505:E1376Q;ENSP00000310933:E1415Q;ENSP00000384204:E1333Q;ENSP00000378753:E1309Q;ENSP00000378745:E1415Q;ENSP00000384287:E1355Q;ENSP00000384483:E225Q	ENSP00000310933:E1415Q	E	+	1	0	MADD	47289943	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.488000	0.81441	2.378000	0.81104	0.563000	0.77884	GAG	MADD	-	NULL		0.502	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47333367	1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47333367	G	C	47333367	3	2	153	1	0	0	0	0	1	0	0	0	9175	1291	45	1	4353	1	MADD	11	47333367	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	15875	47333367	87673149	754	26728										
OR4C3	256144	genome.wustl.edu	37	chr11	48346648	48346648	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagaggtacagagagttctCtttgtggtctttttgctgat	11	6	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:48346648C>T	ENST00000319856.4	+	1	177	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGAGAGTTCTCTTTGTGGTCT	0.468																																																	0													147	131	136					11																	48346648		2201	4298	6499	SO:0001819	synonymous_variant	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.156C>T	11.37:g.48346648C>T			B2RNF2|Q6IFB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L52	ENST00000319856.4	37	c.156	CCDS31489.1	11																																																																																			OR4C3	-	prints_GPCR_Rhodpsn		0.468	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	C	NM_001004702		48346648	1	no_errors	ENST00000319856	ensembl	human	known	70_37	silent	SNP	0.001	T	T	48346648	C	T	48346648	2	4	153	1	0	0	0	0	0	0	0	1	11074	900	32	1		1	OR4C3	11	48346648	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1013281	48346648	86659868	755	26729										
OR5L2	26338	genome.wustl.edu	37	chr11	55595169	55595169	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggacggtgtgttctctgattCactcgtccttagctcttagg	11	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55595169C>T	ENST00000378397.1	+	1	475	c.475C>T	c.(475-477)Cac>Tac	p.H159Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTCTGATTCACTCGTCCTT	0.483										HNSCC(27;0.073)																																							0													217	189	198					11																	55595169		2200	4296	6496	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.475C>T	11.37:g.55595169C>T	ENSP00000367650:p.His159Tyr		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H159Y	ENST00000378397.1	37	c.475	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	10.25	1.299675	0.23650	.	.	ENSG00000205030	ENST00000378397	T	0.00267	8.38	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00496	0.0016	M	0.71920	2.185	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54207	-0.8328	10	0.62326	D	0.03	-34.9027	12.8637	0.57928	0.163:0.837:0.0:0.0	.	159	Q8NGL0	OR5L2_HUMAN	Y	159	ENSP00000367650:H159Y	ENSP00000367650:H159Y	H	+	1	0	OR5L2	55351745	0.000000	0.05858	0.124000	0.21820	0.008000	0.06430	0.901000	0.28445	2.613000	0.88420	0.626000	0.83405	CAC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55595169	1	no_errors	ENST00000378397	ensembl	human	known	70_37	missense	SNP	0.039	T	T	55595169	C	T	55595169	3	4	153	1	0	0	0	0	1	0	0	0	11195	826	29	1	477	1	OR5L2	11	55595169	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7248521	55595169	79411347	756	26730										
SPRYD5	84767	genome.wustl.edu	37	chr11	55653304	55653304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcccattgagtgggctgctGaggaacgccgggtaagtgat	16	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55653304G>A	ENST00000449290.2	+	2	492	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTGGGCTGCTGAGGAACGCCG	0.478																																																	0													12	11	11					11																	55653304		692	1590	2282	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.400G>A	11.37:g.55653304G>A	ENSP00000395086:p.Glu134Lys		A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E134K	ENST00000449290.2	37	c.400		11	.	.	.	.	.	.	.	.	.	.	.	9.866	1.197706	0.22037	.	.	ENSG00000124900	ENST00000449290	T	0.57436	0.4	0.803	-0.479	0.12089	.	.	.	.	.	T	0.54743	0.1877	M	0.91818	3.245	0.52501	D	0.999959	P	0.40553	0.721	B	0.40134	0.32	T	0.54186	-0.8331	9	0.54805	T	0.06	.	3.8204	0.08833	0.5695:0.0:0.4305:0.0	.	134	Q9BSJ1	SPRY5_HUMAN	K	134	ENSP00000395086:E134K	ENSP00000395086:E134K	E	+	1	0	SPRYD5	55409880	0.005000	0.15991	0.062000	0.19696	0.188000	0.23474	-0.081000	0.11321	-0.107000	0.12088	0.152000	0.16155	GAG	TRIM51	-	NULL		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	G	NM_032681		55653304	1	no_errors	ENST00000449290	ensembl	human	known	70_37	missense	SNP	0.905	A	A	55653304	G	A	55653304	3	1	153	1	0	0	0	0	1	0	0	0	15141	1291	45	1	402	1	SPRYD5	11	55653304	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	58135	55653304	79353212	757	26731										
OR5W2	390148	genome.wustl.edu	37	chr11	55681195	55681195	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgttcctcaggctataaatCagggggttcaacatgggaac	11	8	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55681195C>G	ENST00000344514.1	-	1	863	c.864G>C	c.(862-864)ctG>ctC	p.L288L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTATAAATCAGGGGGTTCA	0.348																																					Melanoma(48;171 1190 15239 43886 49348)												0													40	44	43					11																	55681195		2201	4296	6497	SO:0001819	synonymous_variant	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.864G>C	11.37:g.55681195C>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L288	ENST00000344514.1	37	c.864	CCDS31513.1	11																																																																																			OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.348	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	C	NM_001001960		55681195	-1	no_errors	ENST00000344514	ensembl	human	known	70_37	silent	SNP	0.816	G	G	55681195	C	G	55681195	2	3	153	1	0	0	0	0	0	0	0	1	11209	813	29	1		1	OR5W2	11	55681195	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	27891	55681195	79325321	758	26732										
OR8I2	120586	genome.wustl.edu	37	chr11	55861448	55861448	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacttatatcatcatcatctCagccatcctgaggatccagt	5	13	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55861448C>G	ENST00000302124.2	+	1	696	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCATCATCTCAGCCATCCTG	0.473																																																	0													138	121	126					11																	55861448		2201	4296	6497	SO:0001587	stop_gained	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.665C>G	11.37:g.55861448C>G	ENSP00000303864:p.Ser222*		B2RNN4|Q6IFC0|Q96RC5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S222*	ENST00000302124.2	37	c.665	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438947	0.43326	.	.	ENSG00000172154	ENST00000302124	.	.	.	4.33	2.39	0.29439	.	0.242092	0.21353	U	0.075939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-1.3245	6.7426	0.23445	0.0:0.5937:0.0:0.4063	.	.	.	.	X	222	.	ENSP00000303864:S222X	S	+	2	0	OR8I2	55618024	0.000000	0.05858	0.967000	0.41034	0.700000	0.40528	-1.200000	0.03029	0.368000	0.24481	0.440000	0.28878	TCA	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		C	NM_001003750		55861448	1	no_errors	ENST00000302124	ensembl	human	known	70_37	nonsense	SNP	0.205	G	G	55861448	C	G	55861448	4	3	153	1	0	0	0	0	0	1	0	0	11264	838	29	1	667	1	OR8I2	11	55861448	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	180253	55861448	79145068	759	26733										
OR5M1	390168	genome.wustl.edu	37	chr11	56380779	56380779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatagcaaatgtctacaaagGagaggtggccaaggaagaaa	12	5	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:56380779G>T	ENST00000526538.1	-	1	199	c.200C>A	c.(199-201)tCc>tAc	p.S67Y		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTCTACAAAGGAGAGGTGGCC	0.463																																																	0													174	169	170					11																	56380779		1952	4155	6107	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.200C>A	11.37:g.56380779G>T	ENSP00000435416:p.Ser67Tyr		Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S67Y	ENST00000526538.1	37	c.200	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125529	0.56721	.	.	ENSG00000255012	ENST00000526538	T	0.02085	4.46	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001354	T	0.22781	0.0550	H	0.98936	4.375	0.27501	N	0.951999	D	0.89917	1.0	D	0.67231	0.95	T	0.47724	-0.9095	10	0.87932	D	0	-52.5691	14.3562	0.66740	0.0:0.0:1.0:0.0	.	67	Q8NGP8	OR5M1_HUMAN	Y	67	ENSP00000435416:S67Y	ENSP00000435416:S67Y	S	-	2	0	OR5M1	56137355	0.895000	0.30542	1.000000	0.80357	0.879000	0.50718	3.368000	0.52357	1.949000	0.56562	0.280000	0.19369	TCC	OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56380779	-1	no_errors	ENST00000526538	ensembl	human	known	70_37	missense	SNP	0.620	T	T	56380779	G	T	56380779	3	4	153	1	0	0	0	0	1	0	0	0	11196	1174	41	3	751	3	OR5M1	11	56380779	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	519331	56380779	78625737	760	26734										
SLC43A1	8501	genome.wustl.edu	37	chr11	57256402	57256402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactcacactgcagcatagaGactcccacaggctgagtgga	11	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:57256402G>A	ENST00000278426.3	-	13	1751	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Missense_Mutation_p.L466F	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCAGCATAGAGACTCCCACAG	0.517																																																	0													150	141	144					11																	57256402		2201	4296	6497	SO:0001583	missense	8501			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1396C>T	11.37:g.57256402G>A	ENSP00000278426:p.Leu466Phe			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L466F	ENST00000278426.3	37	c.1396	CCDS7958.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310385	0.60414	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.60920	0.15;0.15	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.078772	0.52532	D	0.000069	T	0.71013	0.3290	M	0.67700	2.07	0.51767	D	0.999934	D	0.76494	0.999	D	0.70935	0.971	T	0.66646	-0.5871	10	0.11182	T	0.66	-27.3128	16.951	0.86245	0.0:0.0:1.0:0.0	.	466	O75387	LAT3_HUMAN	F	466	ENSP00000278426:L466F;ENSP00000435673:L466F	ENSP00000278426:L466F	L	-	1	0	SLC43A1	57012978	1.000000	0.71417	0.964000	0.40570	0.576000	0.36127	8.897000	0.92532	2.298000	0.77334	0.650000	0.86243	CTC	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.517	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1	G	NM_003627		57256402	-1	no_errors	ENST00000278426	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57256402	G	A	57256402	3	1	153	1	0	0	0	0	1	0	0	0	14662	942	33	1	295	1	SLC43A1	11	57256402	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	875623	57256402	77750114	761	26735										
OR1S2	219958	genome.wustl.edu	37	chr11	57971060	57971060	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtatctgaacaggacagtttGagcagaggggccaagtcaca	13	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:57971060G>A	ENST00000302592.6	-	1	593	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGGACAGTTTGAGCAGAGGGG	0.418																																																	0													219	202	208					11																	57971060		2201	4296	6497	SO:0001819	synonymous_variant	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.594C>T	11.37:g.57971060G>A			Q6IFG5|Q96R85	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L198	ENST00000302592.6	37	c.594	CCDS31545.1	11																																																																																			OR1S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	HGNC	protein_coding	OTTHUMT00000394703.2	G	NM_001004459		57971060	-1	no_errors	ENST00000302592	ensembl	human	known	70_37	silent	SNP	0.073	A	A	57971060	G	A	57971060	2	1	153	1	0	0	0	0	0	0	0	1	10997	1277	45	1		1	OR1S2	11	57971060	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	714658	57971060	77035456	762	26736										
MS4A14	84689	genome.wustl.edu	37	chr11	60183174	60183174	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccatctcccaaattttcaGaggaagaaattgaacctttg	6	9	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:60183174G>A	ENST00000300187.6	+	5	1010	c.733G>A	c.(733-735)Gag>Aag	p.E245K	MS4A14_ENST00000395005.2_Missense_Mutation_p.E228K|MS4A14_ENST00000531783.1_Missense_Mutation_p.E278K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.E133K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	245						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAAATTTTCAGAGGAAGAAAT	0.388																																																	0													70	69	69					11																	60183174		2203	4299	6502	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.733G>A	11.37:g.60183174G>A	ENSP00000300187:p.Glu245Lys		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.E245K	ENST00000300187.6	37	c.733	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714074	0.30413	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.42513	0.97;2.14;0.97;2.54	3.39	0.228	0.15364	.	7.222970	0.00166	N	0.000000	T	0.40347	0.1113	L	0.34521	1.04	0.09310	N	1	D;P	0.54207	0.965;0.941	P;B	0.50049	0.629;0.425	T	0.28138	-1.0053	10	0.21540	T	0.41	-5.6428	6.5137	0.22236	0.0:0.3838:0.4193:0.1969	.	228;245	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	133;245;228;278	ENSP00000437222:E133K;ENSP00000300187:E245K;ENSP00000378453:E228K;ENSP00000433761:E278K	ENSP00000300187:E245K	E	+	1	0	MS4A14	59939750	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	0.618000	0.24373	0.062000	0.16340	-0.175000	0.13238	GAG	MS4A14	-	NULL		0.388	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	G			60183174	1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	0.001	A	A	60183174	G	A	60183174	3	1	153	1	0	0	0	0	1	0	0	0	9881	943	33	1	751	1	MS4A14	11	60183174	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2212114	60183174	74823342	763	26737										
DDB1	1642	genome.wustl.edu	37	chr11	61096837	61096837	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcttcctgatccagtacctGgtagacaaagcaaatagtag	8	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61096837G>A	ENST00000301764.7	-	4	944	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	183	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAGTACCTGGTAGACAAAG	0.453								Nucleotide excision repair (NER)																																									0													118	115	116					11																	61096837		2203	4299	6502	SO:0001587	stop_gained	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.547C>T	11.37:g.61096837G>A	ENSP00000301764:p.Gln183*		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q183*	ENST00000301764.7	37	c.547	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.484735	0.96323	.	.	ENSG00000167986	ENST00000301764;ENST00000539426;ENST00000535283	.	.	.	4.88	4.88	0.63580	.	0.052749	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-20.2943	18.4291	0.90619	0.0:0.0:1.0:0.0	.	.	.	.	X	183;127;127	.	ENSP00000301764:Q183X	Q	-	1	0	DDB1	60853413	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.540000	0.98080	2.416000	0.81992	0.563000	0.77884	CAG	DDB1	-	NULL		0.453	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	G	NM_001923		61096837	-1	no_errors	ENST00000301764	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	61096837	G	A	61096837	4	1	153	1	0	0	0	0	0	1	0	0	4328	1357	47	4	2971	4	DDB1	11	61096837	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	913663	61096837	73909679	764	26738										
SYT7	9066	genome.wustl.edu	37	chr11	61323615	61323615	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggcagaggccgcagaggacGacagtgacgctaaggctgac	16	10	0	4	rs544775163		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61323615G>A	ENST00000263846.4	-	2	423	c.96C>T	c.(94-96)gtC>gtT	p.V32V	SYT7_ENST00000542836.1_Silent_p.V32V|SYT7_ENST00000539008.1_Silent_p.V32V|SYT7_ENST00000540677.1_Silent_p.V32V|SYT7_ENST00000535826.1_Silent_p.V32V|SYT7_ENST00000542670.1_Silent_p.V32V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	32					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCAGAGGACGACAGTGACGC	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		18676	0		0	False		,,,				2504	0																0													68	55	59					11																	61323615		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.96C>T	11.37:g.61323615G>A			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V32	ENST00000263846.4	37	c.96	CCDS31577.1	11																																																																																			SYT7	-	NULL		0.667	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61323615	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	0.999	A	A	61323615	G	A	61323615	2	1	153	1	0	0	0	0	0	0	0	1	15509	1045	37	1		1	SYT7	11	61323615	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	226778	61323615	73682901	765	26739										
BEST1	7439	genome.wustl.edu	37	chr11	61730086	61730086	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctagaaccatcagcgccgtCaaagcttcacagtgtcacag	8	14	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61730086C>G	ENST00000378043.4	+	10	2103	c.1460C>G	c.(1459-1461)tCa>tGa	p.S487*	BEST1_ENST00000378042.3_Nonsense_Mutation_p.S400*|BEST1_ENST00000449131.2_Nonsense_Mutation_p.S427*|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Nonsense_Mutation_p.S115*|FTH1_ENST00000529631.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	487					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TCAGCGCCGTCAAAGCTTCAC	0.522																																																	0													77	70	72					11																	61730086		2202	4299	6501	SO:0001587	stop_gained	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1460C>G	11.37:g.61730086C>G	ENSP00000367282:p.Ser487*		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Nonsense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.S427*	ENST00000378043.4	37	c.1280	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.041473	0.98624	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	.	.	.	4.96	-0.255	0.12988	.	0.932315	0.08813	N	0.889966	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.2829	2.8289	0.05494	0.1939:0.37:0.3205:0.1155	.	.	.	.	X	487;400;115;427	.	ENSP00000301774:S115X	S	+	2	0	BEST1	61486662	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.306000	0.19279	0.063000	0.16370	-0.165000	0.13383	TCA	BEST1	-	NULL		0.522	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	C	NM_004183		61730086	1	no_errors	ENST00000449131	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	61730086	C	G	61730086	4	3	153	1	0	0	0	0	0	1	0	0	1405	838	29	1	1494	1	BEST1	11	61730086	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	406471	61730086	73276430	766	26740										
SLC22A24	283238	genome.wustl.edu	37	chr11	62886398	62886398	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcataccaagaggacaagaaGaggacaattatgggtgtaga	12	5	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:62886398G>C	ENST00000417740.1	-	4	1257	c.816C>G	c.(814-816)ctC>ctG	p.L272L	SLC22A24_ENST00000326192.5_Silent_p.L272L	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	272					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						AGGACAAGAAGAGGACAATTA	0.473																																																	0													194	165	174					11																	62886398		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.816C>G	11.37:g.62886398G>C				Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L272	ENST00000417740.1	37	c.816		11																																																																																			SLC22A24	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.473	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	G	NM_173586		62886398	-1	no_errors	ENST00000326192	ensembl	human	known	70_37	silent	SNP	0.015	C	C	62886398	G	C	62886398	2	2	153	1	0	0	0	0	0	0	0	1	14483	929	33	1		1	SLC22A24	11	62886398	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1156312	62886398	72120118	767	26741										
SLC22A9	114571	genome.wustl.edu	37	chr11	63176208	63176208	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaggagccctggctcccctCatgatgatcctaagtgtgta	11	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:63176208C>G	ENST00000279178.3	+	9	1707	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	486					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGCTCCCCTCATGATGATCC	0.468																																																	0													139	124	129					11																	63176208		2201	4298	6499	SO:0001819	synonymous_variant	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1458C>G	11.37:g.63176208C>G			A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L486	ENST00000279178.3	37	c.1458	CCDS8043.1	11																																																																																			SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.468	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	C	NM_080866		63176208	1	no_errors	ENST00000279178	ensembl	human	known	70_37	silent	SNP	0.476	G	G	63176208	C	G	63176208	2	3	153	1	0	0	0	0	0	0	0	1	14491	813	29	1		1	SLC22A9	11	63176208	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	289810	63176208	71830308	768	26742										
PPP2R5B	5526	genome.wustl.edu	37	chr11	64698937	64698937	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtgtggtgcagttcctggaGaaggatgccactctgacaga	14	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:64698937G>A	ENST00000164133.2	+	9	1543	c.921G>A	c.(919-921)gaG>gaA	p.E307E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	307					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGTTCCTGGAGAAGGATGCCA	0.602																																																	0													80	64	69					11																	64698937		2201	4297	6498	SO:0001819	synonymous_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.921G>A	11.37:g.64698937G>A			Q13853	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E307	ENST00000164133.2	37	c.921	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	6.688	0.495463	0.12762	.	.	ENSG00000068971	ENST00000359279	.	.	.	4.53	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62248	-0.6894	6	0.87932	D	0	-28.0072	5.7033	0.17895	0.3036:0.0:0.6964:0.0	.	.	.	.	K	333	.	ENSP00000352225:E333K	E	+	1	0	PPP2R5B	64455513	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.082000	0.57635	1.259000	0.44117	0.462000	0.41574	GAA	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.602	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	G	NM_006244		64698937	1	no_errors	ENST00000164133	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64698937	G	A	64698937	2	1	153	1	0	0	0	0	0	0	0	1	12420	933	33	1		1	PPP2R5B	11	64698937	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1522729	64698937	70307579	769	26743										
TM7SF2	7108	genome.wustl.edu	37	chr11	64882211	64882211	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcaacctggccctgttgatGaaggaggcagagcttcgagg	14	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:64882211G>C	ENST00000279263.7	+	6	792	c.630G>C	c.(628-630)atG>atC	p.M210I	TM7SF2_ENST00000345348.5_Missense_Mutation_p.M210I|TM7SF2_ENST00000540748.1_Missense_Mutation_p.M94I|TM7SF2_ENST00000531029.1_3'UTR|AP003068.12_ENST00000527789.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	210					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTGTTGATGAAGGAGGCAG	0.607																																																	0													70	79	76					11																	64882211		2129	4226	6355	SO:0001583	missense	7108			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.630G>C	11.37:g.64882211G>C	ENSP00000279263:p.Met210Ile		A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	p.M210I	ENST00000279263.7	37	c.630	CCDS41669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.475|6.475	0.455771|0.455771	0.12283|0.12283	.|.	.|.	ENSG00000149809|ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000526085;ENST00000527968|ENST00000528802	D;D;D;D;D;D;D;D;D;D;D|.	0.97811|.	-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55|.	5.23|5.23	-0.0244|-0.0244	0.13939|0.13939	.|.	0.600200|.	0.17889|.	N|.	0.158598|.	T|.	0.30947|.	0.0781|.	N|N	0.25144|0.25144	0.715|0.715	0.33809|0.33809	D|D	0.627622|0.627622	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|.	0.37150|.	-0.9718|.	10|.	0.13470|.	T|.	0.59|.	-3.6003|-3.6003	5.0829|5.0829	0.14666|0.14666	0.3124:0.0:0.5527:0.1349|0.3124:0.0:0.5527:0.1349	.|.	94;210;210|.	F5GYV3;O76062-2;O76062|.	.;.;ERG24_HUMAN|.	I|S	92;210;181;142;94;181;210;116;199;61;42|38	ENSP00000432171:M92I;ENSP00000279263:M210I;ENSP00000435972:M181I;ENSP00000432187:M142I;ENSP00000441215:M94I;ENSP00000433325:M181I;ENSP00000329520:M210I;ENSP00000431300:M116I;ENSP00000433275:M199I;ENSP00000434447:M61I;ENSP00000431685:M42I|.	ENSP00000279263:M210I|.	M|X	+|+	3|2	0|2	TM7SF2|TM7SF2	64638787|64638787	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.093000|0.093000	0.18481|0.18481	2.056000|2.056000	0.41355|0.41355	0.103000|0.103000	0.17682|0.17682	0.561000|0.561000	0.74099|0.74099	ATG|TGA	TM7SF2	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.607	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF2	HGNC	protein_coding	OTTHUMT00000385234.1	G	NM_003273		64882211	1	no_errors	ENST00000279263	ensembl	human	known	70_37	missense	SNP	0.952	C	C	64882211	G	C	64882211	3	2	153	1	0	0	0	0	1	0	0	0	16004	1290	45	1	652	1	TM7SF2	11	64882211	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	183274	64882211	70124305	770	26744										
RIN1	9610	genome.wustl.edu	37	chr11	66102954	66102954	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctctggggagctgcagcggGaggagaaggatgtccctgag	19	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66102954G>A	ENST00000311320.4	-	5	597	c.471C>T	c.(469-471)ctC>ctT	p.L157L	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Silent_p.L52L|RIN1_ENST00000424433.2_Silent_p.L52L	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	157	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCTGCAGCGGGAGGAGAAGGA	0.642																																																	0													67	58	61					11																	66102954		2200	4295	6495	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.471C>T	11.37:g.66102954G>A			O15010|Q00427|Q96CC8	Silent	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.L157	ENST00000311320.4	37	c.471	CCDS31614.1	11																																																																																			RIN1	-	pfscan_SH2		0.642	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	G	NM_004292		66102954	-1	no_errors	ENST00000311320	ensembl	human	known	70_37	silent	SNP	0.987	A	A	66102954	G	A	66102954	2	1	153	1	0	0	0	0	0	0	0	1	13401	1161	41	1		1	RIN1	11	66102954	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1220743	66102954	68903562	771	26745										
NPAS4	266743	genome.wustl.edu	37	chr11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taacatgttcctggaagagaCgcccgtggaagacatcttca	10	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66192484C>T	ENST00000311034.2	+	7	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	708					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612																																																	0													74	81	78					11																	66192484		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2123C>T	11.37:g.66192484C>T	ENSP00000311196:p.Thr708Met		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.T708M	ENST00000311034.2	37	c.2123	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	C	10.62	1.399943	0.25291	.	.	ENSG00000174576	ENST00000311034	T	0.47177	0.85	4.79	-1.53	0.08611	.	0.701451	0.13527	N	0.381227	T	0.22399	0.0540	N	0.08118	0	0.30657	N	0.75483	B	0.06786	0.001	B	0.04013	0.001	T	0.11036	-1.0604	10	0.87932	D	0	1.0838	4.9632	0.14078	0.1492:0.427:0.0:0.4238	.	708	Q8IUM7	NPAS4_HUMAN	M	708	ENSP00000311196:T708M	ENSP00000311196:T708M	T	+	2	0	NPAS4	65949060	0.116000	0.22171	0.997000	0.53966	0.999000	0.98932	-0.326000	0.07965	-0.093000	0.12396	0.655000	0.94253	ACG	NPAS4	-	NULL		0.612	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	C	NM_178864		66192484	1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	0.991	T	T	66192484	C	T	66192484	3	4	153	1	0	0	0	0	1	0	0	0	10589	536	19	2	2149	2	NPAS4	11	66192484	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	89530	66192484	68814032	772	26746										
CCDC87	55231	genome.wustl.edu	37	chr11	66359139	66359139	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agagtctaagaagtttctatCagagacccgtacggcagccg	11	10	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66359139C>G	ENST00000333861.3	-	1	1415	c.1348G>C	c.(1348-1350)Gat>Cat	p.D450H	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	450					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTTTCTATCAGAGACCCGT	0.507																																																	0													50	56	54					11																	66359139		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1348G>C	11.37:g.66359139C>G	ENSP00000328487:p.Asp450His		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.D450H	ENST00000333861.3	37	c.1348	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636746	0.29068	.	.	ENSG00000182791	ENST00000333861	T	0.37752	1.18	5.3	2.38	0.29361	.	1.093840	0.07121	N	0.843820	T	0.25306	0.0615	N	0.22421	0.69	0.09310	N	1	P	0.44578	0.838	B	0.40901	0.343	T	0.17228	-1.0376	10	0.72032	D	0.01	.	4.5918	0.12310	0.1744:0.6461:0.0:0.1795	.	450	Q9NVE4	CCD87_HUMAN	H	450	ENSP00000328487:D450H	ENSP00000328487:D450H	D	-	1	0	CCDC87	66115715	0.003000	0.15002	0.037000	0.18230	0.436000	0.31835	1.675000	0.37555	0.365000	0.24400	-0.251000	0.11542	GAT	CCDC87	-	NULL		0.507	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	C	NM_018219		66359139	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.141	G	G	66359139	C	G	66359139	3	3	153	1	0	0	0	0	1	0	0	0	2867	826	29	1	1205	1	CCDC87	11	66359139	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	166655	66359139	68647377	773	26747										
RBM14	10432	genome.wustl.edu	37	chr11	66384308	66384308	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcatgaaacagttcgccttCgtgcacatgcgcgagaacgc	11	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66384308C>T	ENST00000310137.4	+	1	256	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.F39F|RBM14_ENST00000409738.4_Silent_p.F39F|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Silent_p.F39F|RBM14-RBM4_ENST00000500635.2_Silent_p.F39F|RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000514361.3_Silent_p.F39F|RBM14_ENST00000443702.1_Silent_p.F39F|RBM14_ENST00000409372.1_Silent_p.F39F	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	39	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTTCGCCTTCGTGCACATGC	0.701																																																	0													30	32	31					11																	66384308		2200	4293	6493	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.117C>T	11.37:g.66384308C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F39	ENST00000310137.4	37	c.117	CCDS8147.1	11																																																																																			RBM14	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.701	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66384308	1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66384308	C	T	66384308	2	4	153	1	0	0	0	0	0	0	0	1	13145	883	31	1		1	RBM14	11	66384308	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	25169	66384308	68622208	774	26748										
RBM14	10432	genome.wustl.edu	37	chr11	66393087	66393087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgccctatgagcgtacccgCctctccccaccccgggccag	9	22	1	1	rs371074542		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66393087C>T	ENST00000310137.4	+	2	1879	c.1740C>T	c.(1738-1740)cgC>cgT	p.R580R	RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	580					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCGTACCCGCCTCTCCCCAC	0.667																																																	0								C	,,,,	1,4353		0,1,2176	27	28	28		,,,,1740	-1	1	11		28	0,8522		0,0,4261	no	intron,intron,intron,intron,coding-synonymous	RBM14,RBM14-RBM4	NM_001198836.1,NM_001198837.1,NM_001198845.1,NM_001198846.1,NM_006328.3	,,,,	0,1,6437	TT,TC,CC		0.0,0.023,0.0078	,,,,	,,,,580/670	66393087	1,12875	2177	4261	6438	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1740C>T	11.37:g.66393087C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R580	ENST00000310137.4	37	c.1740	CCDS8147.1	11																																																																																			RBM14	-	NULL		0.667	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66393087	1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	0.990	T	T	66393087	C	T	66393087	2	4	153	1	0	0	0	0	0	0	0	1	13145	726	26	4		4	RBM14	11	66393087	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8779	66393087	68613429	775	26749										
TBC1D10C	374403	genome.wustl.edu	37	chr11	67173162	67173162	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgagatgtttgtgtcgcctCagggccacgggtacgaggcc	15	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67173162C>G	ENST00000542590.1	+	4	471	c.457C>G	c.(457-459)Cag>Gag	p.Q153E	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.Q153E|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.Q153E			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	153	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGTCGCCTCAGGGCCACGG	0.637																																																	0													68	67	67					11																	67173162		2200	4295	6495	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.457C>G	11.37:g.67173162C>G	ENSP00000443654:p.Gln153Glu		G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q153E	ENST00000542590.1	37	c.457	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765617	0.31228	.	.	ENSG00000175463	ENST00000526387;ENST00000312390;ENST00000542590	T;T;T	0.15487	2.42;2.42;2.42	4.84	3.86	0.44501	Rab-GAP/TBC domain (4);	0.000000	0.46758	D	0.000278	T	0.09379	0.0231	N	0.05554	-0.025	0.80722	D	1	B;B	0.17038	0.009;0.02	B;B	0.27262	0.03;0.078	T	0.22941	-1.0202	10	0.22109	T	0.4	.	11.6275	0.51153	0.0:0.626:0.374:0.0	.	153;153	Q8IV04;G3V1D6	TB10C_HUMAN;.	E	153	ENSP00000435543:Q153E;ENSP00000310193:Q153E;ENSP00000443654:Q153E	ENSP00000310193:Q153E	Q	+	1	0	TBC1D10C	66929738	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.377000	0.59562	2.236000	0.73375	0.442000	0.29010	CAG	TBC1D10C	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.637	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	C	NM_198517		67173162	1	no_errors	ENST00000312390	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67173162	C	G	67173162	3	3	153	1	0	0	0	0	1	0	0	0	15630	827	29	1	471	1	TBC1D10C	11	67173162	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	780075	67173162	67833354	776	26750										
PITPNM1	9600	genome.wustl.edu	37	chr11	67267839	67267839	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgctcagctctgtccactCatcctgccagcaccaggcct	7	18	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67267839C>G	ENST00000534749.1	-	5	882	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	PITPNM1_ENST00000356404.3_Missense_Mutation_p.E232Q|PITPNM1_ENST00000436757.2_Missense_Mutation_p.E232Q			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	232					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTGTCCACTCATCCTGCCAG	0.667																																					GBM(28;144 709 4607 5525)												0													78	81	80					11																	67267839		2200	4290	6490	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.694G>C	11.37:g.67267839C>G	ENSP00000437286:p.Glu232Gln		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.E232Q	ENST00000534749.1	37	c.694	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404412	0.83230	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.53857	0.6;0.6;0.6	4.02	4.02	0.46733	START-like domain (1);	0.000000	0.53938	D	0.000048	T	0.73118	0.3546	M	0.81239	2.535	0.46542	D	0.999099	D;D	0.89917	0.996;1.0	D;D	0.97110	0.985;1.0	T	0.78518	-0.2173	10	0.87932	D	0	-25.5198	15.2857	0.73826	0.0:1.0:0.0:0.0	.	232;232	O00562-2;O00562	.;PITM1_HUMAN	Q	232	ENSP00000437286:E232Q;ENSP00000398787:E232Q;ENSP00000348772:E232Q	ENSP00000348772:E232Q	E	-	1	0	PITPNM1	67024415	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.170000	0.77587	2.256000	0.74724	0.555000	0.69702	GAG	PITPNM1	-	pfam_PI_transfer,prints_PI_transfer		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	C	NM_004910		67267839	-1	no_errors	ENST00000356404	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67267839	C	G	67267839	3	3	153	1	0	0	0	0	1	0	0	0	11974	835	29	1	3116	1	PITPNM1	11	67267839	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	94677	67267839	67738677	777	26751										
CABP2	51475	genome.wustl.edu	37	chr11	67289435	67289435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccctttaccttcaatctcctCgggccgcagctcccggtcct	7	19	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67289435C>T	ENST00000294288.4	-	3	301	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CABP2_ENST00000353903.5_Missense_Mutation_p.E21K	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	78	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TCAATCTCCTCGGGCCGCAGC	0.632																																																	0													63	47	53					11																	67289435		2200	4295	6495	SO:0001583	missense	51475			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.232G>A	11.37:g.67289435C>T	ENSP00000294288:p.Glu78Lys			Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E78K	ENST00000294288.4	37	c.232	CCDS8170.1	11	.	.	.	.	.	.	.	.	.	.	c	24.9	4.582228	0.86748	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.10192	2.9;2.9	3.9	3.9	0.45041	EF-hand-like domain (1);	0.162614	0.43579	D	0.000556	T	0.20414	0.0491	L	0.61036	1.89	0.52099	D	0.999941	D;D;D	0.64830	0.979;0.985;0.994	P;B;B	0.51487	0.671;0.313;0.42	T	0.01748	-1.1282	10	0.87932	D	0	-22.1732	13.7771	0.63059	0.0:1.0:0.0:0.0	.	84;21;78	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	K	21;78	ENSP00000312037:E21K;ENSP00000294288:E78K	ENSP00000294288:E78K	E	-	1	0	CABP2	67046011	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.870000	0.75526	2.172000	0.68678	0.550000	0.68814	GAG	CABP2	-	pfscan_EF_HAND_2		0.632	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	HGNC	protein_coding	OTTHUMT00000397516.1	C			67289435	-1	no_errors	ENST00000294288	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67289435	C	T	67289435	3	4	153	1	0	0	0	0	1	0	0	0	2537	893	31	1	450	1	CABP2	11	67289435	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	21596	67289435	67717081	778	26752										
NUDT8	254552	genome.wustl.edu	37	chr11	67396431	67396431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggccccacacgtgctcctCgggcactgccaggcccagct	11	19	0	0	rs199685467		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67396431C>T	ENST00000376693.2	-	2	295	c.286G>A	c.(286-288)Gag>Aag	p.E96K	NUDT8_ENST00000301490.4_Missense_Mutation_p.E96K|RP11-655M14.13_ENST00000533311.1_lincRNA	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	96	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						ACGTGCTCCTCGGGCACTGCC	0.652											OREG0021134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LYS/GLU	0,4400		0,0,2200	51	54	53		286	0	0	11		53	4,8582	3.7+/-12.6	0,4,4289	yes	missense	NUDT8	NM_181843.2	56	0,4,6489	TT,TC,CC		0.0466,0.0,0.0308	benign	96/141	67396431	4,12982	2200	4293	6493	SO:0001583	missense	254552			AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"Nudix motif containing"	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.286G>A	11.37:g.67396431C>T	ENSP00000365883:p.Glu96Lys	1099	Q6ZW59	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E96K	ENST00000376693.2	37	c.286	CCDS58151.1	11	.	.	.	.	.	.	.	.	.	.	C	3.713	-0.059157	0.07317	0.0	4.66E-4	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.06068	3.35;3.35	4.24	0.0139	0.14098	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.658638	0.15237	N	0.273080	T	0.02012	0.0063	N	0.03930	-0.32	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.001;0.005	T	0.46512	-0.9186	10	0.05833	T	0.94	-11.3525	5.2833	0.15688	0.0:0.4972:0.3326:0.1702	.	96;96	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	K	96	ENSP00000301490:E96K;ENSP00000365883:E96K	ENSP00000301490:E96K	E	-	1	0	NUDT8	67153007	0.000000	0.05858	0.021000	0.16686	0.891000	0.51852	0.029000	0.13666	-0.165000	0.10908	-0.264000	0.10439	GAG	NUDT8	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.652	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUDT8	HGNC	protein_coding	OTTHUMT00000394036.1	C	NM_181843		67396431	-1	no_errors	ENST00000376693	ensembl	human	known	70_37	missense	SNP	0.017	T	T	67396431	C	T	67396431	3	4	153	1	0	0	0	0	1	0	0	0	10769	893	31	1	144	1	NUDT8	11	67396431	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	106996	67396431	67610085	779	26753										
SAPS3	55291	genome.wustl.edu	37	chr11	68369359	68369359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attctttaaggagtaattctCcagtggaaatggaaaccagc	9	7	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:68369359C>T	ENST00000393800.2	+	21	2475	c.2221C>T	c.(2221-2223)Cca>Tca	p.P741S	PPP6R3_ENST00000524904.1_Missense_Mutation_p.P735S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.P741S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.P661S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.P695S|PPP6R3_ENST00000393799.2_Missense_Mutation_p.P741S|PPP6R3_ENST00000529710.1_Missense_Mutation_p.P661S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.P706S|PPP6R3_ENST00000534534.1_Missense_Mutation_p.P509S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.P712S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	741					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAGTAATTCTCCAGTGGAAAT	0.488																																																	0													103	113	110					11																	68369359		2200	4294	6494	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2221C>T	11.37:g.68369359C>T	ENSP00000377389:p.Pro741Ser		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.P741S	ENST00000393800.2	37	c.2221	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535439	0.85812	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.994;0.996;0.919;1.0;1.0;0.999;0.997	T	0.77528	-0.2554	10	0.44086	T	0.13	.	18.3211	0.90238	0.0:1.0:0.0:0.0	.	424;509;661;712;735;741;741;661	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	S	741;741;509;712;695;735;741;661;661;706;448	ENSP00000377388:P741S;ENSP00000377389:P741S;ENSP00000434429:P509S;ENSP00000431415:P712S;ENSP00000265637:P695S;ENSP00000433058:P735S;ENSP00000377390:P741S;ENSP00000265636:P661S;ENSP00000437329:P661S;ENSP00000433565:P706S;ENSP00000436209:P448S	ENSP00000265636:P661S	P	+	1	0	PPP6R3	68125935	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.823000	0.75282	2.558000	0.86282	0.591000	0.81541	CCA	PPP6R3	-	NULL		0.488	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	C	NM_018312		68369359	1	no_errors	ENST00000393799	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68369359	C	T	68369359	3	4	153	1	0	0	0	0	1	0	0	0	13868	855	30	1	2295	1	SAPS3	11	68369359	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	972928	68369359	66637157	780	26754										
ANO1	55107	genome.wustl.edu	37	chr11	69999169	69999169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtttcattcacaggatcatCctagagctgaatacgaagcc	9	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:69999169C>A	ENST00000355303.5	+	14	1665	c.1360C>A	c.(1360-1362)Cct>Act	p.P454T	ANO1_ENST00000530676.1_Missense_Mutation_p.P334T|ANO1_ENST00000316296.5_Missense_Mutation_p.P422T|ANO1_ENST00000538023.1_Missense_Mutation_p.P454T|ANO1_ENST00000398543.2_Missense_Mutation_p.P334T|ANO1_ENST00000531349.1_Missense_Mutation_p.P189T	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	454					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACAGGATCATCCTAGAGCTGA	0.448																																																	0													45	45	45					11																	69999169		1915	4131	6046	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1360C>A	11.37:g.69999169C>A	ENSP00000347454:p.Pro454Thr		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.P454T	ENST00000355303.5	37	c.1360	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	2.042	-0.419893	0.04734	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.75	4.75	0.60458	.	0.132552	0.51477	D	0.000096	T	0.78323	0.4265	M	0.75447	2.3	0.49213	D	0.999762	B;D;D	0.76494	0.368;0.999;0.986	B;D;P	0.68353	0.271;0.957;0.898	T	0.79813	-0.1645	9	.	.	.	.	17.7643	0.88473	0.0:1.0:0.0:0.0	.	189;422;454	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	T	454;454;334;238;422;334;189;31	ENSP00000347454:P454T;ENSP00000444689:P454T;ENSP00000381551:P334T;ENSP00000319477:P422T;ENSP00000435797:P334T;ENSP00000432843:P189T;ENSP00000435868:P31T	.	P	+	1	0	ANO1	69676817	1.000000	0.71417	0.993000	0.49108	0.039000	0.13416	3.721000	0.54941	2.192000	0.70111	0.561000	0.74099	CCT	ANO1	-	pfam_Anoctamin		0.448	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	C	NM_018043		69999169	1	no_errors	ENST00000355303	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69999169	C	A	69999169	3	1	153	1	0	0	0	0	1	0	0	0	695	855	30	3	1414	3	ANO1	11	69999169	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1629810	69999169	65007347	781	26755										
ANO1	55107	genome.wustl.edu	37	chr11	70028677	70028677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctacatgtacagtaagaacGggaccatgcacggcttcgtc	10	11	1	1	rs373835880		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:70028677G>A	ENST00000355303.5	+	24	2778	c.2473G>A	c.(2473-2475)Ggg>Agg	p.G825R	ANO1_ENST00000530676.1_Missense_Mutation_p.G679R|ANO1_ENST00000538023.1_Missense_Mutation_p.G825R|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.G679R|ANO1_ENST00000531349.1_Missense_Mutation_p.G534R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	825					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CAGTAAGAACGGGACCATGCA	0.597													G|||	1	0.000199681	8e-04	0	5008	,	,		17801	0		0	False		,,,				2504	0																0													103	111	108					11																	70028677		2077	4203	6280	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2473G>A	11.37:g.70028677G>A	ENSP00000347454:p.Gly825Arg		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.G825R	ENST00000355303.5	37	c.2473	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568697	0.86439	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81176	-0.1052	9	.	.	.	.	17.6499	0.88161	0.0:0.0:1.0:0.0	.	534;825	E9PNA7;Q5XXA6	.;ANO1_HUMAN	R	825;825;679;583;679;534;152	ENSP00000347454:G825R;ENSP00000444689:G825R;ENSP00000381551:G679R;ENSP00000435797:G679R;ENSP00000432843:G534R	.	G	+	1	0	ANO1	69706325	1.000000	0.71417	0.990000	0.47175	0.729000	0.41735	9.160000	0.94734	2.176000	0.68965	0.555000	0.69702	GGG	ANO1	-	pfam_Anoctamin		0.597	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	G	NM_018043		70028677	1	no_errors	ENST00000355303	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70028677	G	A	70028677	3	1	153	1	0	0	0	0	1	0	0	0	695	1116	39	2	2567	2	ANO1	11	70028677	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	29508	70028677	64977839	782	26756										
NADSYN1	55191	genome.wustl.edu	37	chr11	71174494	71174494	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaggcctgtaatgcaccgaAacgtccgctacaactgcaga	10	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:71174494A>T	ENST00000319023.2	+	4	468	c.280A>T	c.(280-282)Aac>Tac	p.N94Y		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	94	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AATGCACCGAAACGTCCGCTA	0.607																																					Ovarian(79;763 1781 6490 50276)												0													118	88	98					11																	71174494		2200	4294	6494	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.280A>T	11.37:g.71174494A>T	ENSP00000326424:p.Asn94Tyr		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.N94Y	ENST00000319023.2	37	c.280	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168442	0.57584	.	.	ENSG00000172890	ENST00000319023	D	0.85955	-2.05	5.06	3.94	0.45596	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.103426	0.64402	D	0.000006	D	0.91781	0.7400	M	0.87180	2.865	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.91205	0.4994	10	0.62326	D	0.03	-20.0978	9.1159	0.36758	0.9115:0.0:0.0885:0.0	.	94	Q6IA69	NADE_HUMAN	Y	94	ENSP00000326424:N94Y	ENSP00000326424:N94Y	N	+	1	0	NADSYN1	70852142	1.000000	0.71417	0.290000	0.24890	0.561000	0.35649	4.992000	0.63889	0.887000	0.36136	0.533000	0.62120	AAC	NADSYN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase		0.607	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	A	NM_018161		71174494	1	no_errors	ENST00000319023	ensembl	human	known	70_37	missense	SNP	0.951	T	T	71174494	A	T	71174494	3	4	153	1	0	0	0	0	1	0	0	0	10161	14	1	5	294	5	NADSYN1	11	71174494	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	1145817	71174494	63832022	783	26757										
INPPL1	3636	genome.wustl.edu	37	chr11	71941061	71941062	+	Splice_Site	DNP	GA	GA	AT													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccatccccgtgcaggcctttGaggtacatggcagtggggcc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:71941061_71941062GA>AT	ENST00000298229.2	+	8	1141_1142	c.937_938GA>AT	c.(937-939)GAg>ATg	p.E313M	INPPL1_ENST00000541756.1_Splice_Site_p.E71M|INPPL1_ENST00000538751.1_Splice_Site_p.E71M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	313					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCAGGCCTTTGAGGTACATGGC	0.639																																																	0																																										SO:0001630	splice_region_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	Exception_encountered	11.37:g.71941061_71941062delinsAT			B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.E313K|p.E313V	ENST00000298229.2	37	c.937|c.938	CCDS8213.1	11																																																																																			INPPL1	-	NULL		0.639	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	G|A	NM_001567	Missense_Mutation	71941061|71941062	1	no_errors	ENST00000298229	ensembl	human	known	70_37	missense	SNP	1.000	A|T	AT	71941062	GA	AT	71941061	5	1	153	1	0	0	0	0	0	0	1	0	7781	1291	45	1	967	1	INPPL1	11	71941061	Splice_Site	DNP	GA	TCGA-IR-A3LK-01A-12D-A20U-09	766567	71941061	63065455	784	26758										
PAAF1	80227	genome.wustl.edu	37	chr11	73611423	73611423	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctgaagatatggtcagctGaagatgctagctgcgtggtg	15	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:73611423G>T	ENST00000310571.3	+	6	543	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	PAAF1_ENST00000544909.1_Nonsense_Mutation_p.E165*|PAAF1_ENST00000544552.1_Nonsense_Mutation_p.E147*|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000376384.5_Nonsense_Mutation_p.E147*|PAAF1_ENST00000536003.1_Nonsense_Mutation_p.E147*|PAAF1_ENST00000535604.1_Nonsense_Mutation_p.E49*|PAAF1_ENST00000541951.1_Nonsense_Mutation_p.E49*	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	164					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ATGGTCAGCTGAAGATGCTAG	0.478																																																	0													136	135	135					11																	73611423		2200	4293	6493	SO:0001587	stop_gained	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.490G>T	11.37:g.73611423G>T	ENSP00000311665:p.Glu164*		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E164*	ENST00000310571.3	37	c.490	CCDS8226.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.266931|7.266931	0.98175|0.98175	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000536582;ENST00000544909|ENST00000540659	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.149295|.	0.46145|.	D|.	0.000314|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.21014|.	T|.	0.42|.	-10.4796|-10.4796	18.4967|18.4967	0.90867|0.90867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	49;164;147;147;49;49;147;147;28;147;142;165|4	.|.	ENSP00000311665:E164X|.	E|X	+|+	1|2	0|2	PAAF1|PAAF1	73289071|73289071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.281000|3.281000	0.51685|0.51685	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GAA|TGA	PAAF1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.478	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1	G	NM_025155		73611423	1	no_errors	ENST00000310571	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	73611423	G	T	73611423	4	4	153	1	0	0	0	0	0	1	0	0	11386	1291	45	3	512	3	PAAF1	11	73611423	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1670362	73611423	61395093	785	26759										
SYTL2	54843	genome.wustl.edu	37	chr11	85435827	85435827	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tactacctattaactttgatGgagaaagattccctgtatca	6	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:85435827G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Missense_Mutation_p.P558L|SYTL2_ENST00000525423.1_Missense_Mutation_p.P558L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1082L|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAACTTTGATGGAGAAAGATT	0.433																																																	0													87	86	86					11																	85435827		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3111C>T	11.37:g.85435827G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P1082L	ENST00000528231.1	37	c.3245	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232265	0.05983	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26660	1.73;1.72;1.72	5.58	2.52	0.30459	.	1.352880	0.04248	N	0.338078	T	0.19406	0.0466	L	0.32530	0.975	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.21449	-1.0245	9	.	.	.	0.294	4.232	0.10608	0.1866:0.0:0.6186:0.1948	.	558;558;558	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	L	1082;558;558	ENSP00000352065:P1082L;ENSP00000346576:P558L;ENSP00000432694:P558L	.	P	-	2	0	SYTL2	85113475	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	-0.101000	0.10973	0.918000	0.36919	0.655000	0.94253	CCA	SYTL2	-	NULL		0.433	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85435827	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.000	A	A	85435827	G	A	85435827	1	1	153	0	1	0	0	0	0	0	0	0	15513	1348	47	4		4	SYTL2	11	85435827	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	11824404	85435827	49570689	786	26760										
FZD4	8322	genome.wustl.edu	37	chr11	86662235	86662235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcacccaaccatttcctctCttctctctctttacctttcc	0	18	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:86662235C>G	ENST00000531380.1	-	2	1868	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000531521.1_Intron	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	521					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTTCCTCTCTTCTCTCTCT	0.478																																																	0													139	147	144					11																	86662235		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1563G>C	11.37:g.86662235C>G	ENSP00000434034:p.Lys521Asn		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.K521N	ENST00000531380.1	37	c.1563	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	C	5.083	0.200891	0.09652	.	.	ENSG00000174804	ENST00000531380	T	0.80909	-1.43	6.03	1.75	0.24633	.	0.100889	0.64402	D	0.000001	T	0.61862	0.2381	N	0.12746	0.255	0.44611	D	0.99758	B	0.22604	0.072	B	0.20767	0.031	T	0.43621	-0.9380	9	.	.	.	.	11.7306	0.51735	0.0:0.6038:0.0:0.3962	.	521	Q9ULV1	FZD4_HUMAN	N	521	ENSP00000434034:K521N	.	K	-	3	2	FZD4	86339883	0.973000	0.33851	0.938000	0.37757	0.796000	0.44982	0.127000	0.15790	-0.136000	0.11475	-1.851000	0.00568	AAG	FZD4	-	NULL		0.478	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	C	NM_012193		86662235	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	missense	SNP	0.951	G	G	86662235	C	G	86662235	3	3	153	1	0	0	0	0	1	0	0	0	6150	912	32	1	54	1	FZD4	11	86662235	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1226408	86662235	48344281	787	26761										
FAT3	120114	genome.wustl.edu	37	chr11	92615956	92615956	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggagtgtgagaacggaggcTcctgcgtgaacgtgttcggc	17	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:92615956T>A	ENST00000298047.6	+	23	12351	c.12334T>A	c.(12334-12336)Tcc>Acc	p.S4112T	FAT3_ENST00000409404.2_Missense_Mutation_p.S4112T|FAT3_ENST00000525166.1_Missense_Mutation_p.S3962T|FAT3_ENST00000533797.1_Missense_Mutation_p.S447T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4112	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACGGAGGCTCCTGCGTGAA	0.632										TCGA Ovarian(4;0.039)																																							0													69	92	84					11																	92615956		2160	4246	6406	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12334T>A	11.37:g.92615956T>A	ENSP00000298047:p.Ser4112Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4112T	ENST00000298047.6	37	c.12334		11	.	.	.	.	.	.	.	.	.	.	T	8.410	0.843997	0.16963	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.37	-2.14	0.07123	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47801	0.1465	N	0.00260	-1.75	0.38995	D	0.959228	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.38757	-0.9646	9	0.10902	T	0.67	.	13.26	0.60101	0.0983:0.0:0.6695:0.2322	.	4112;4112	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4112;4112;3962;447	ENSP00000298047:S4112T;ENSP00000387040:S4112T;ENSP00000432586:S3962T;ENSP00000436399:S447T	ENSP00000298047:S4112T	S	+	1	0	FAT3	92255604	0.000000	0.05858	0.962000	0.40283	0.987000	0.75469	-1.050000	0.03510	-0.552000	0.06167	0.533000	0.62120	TCC	FAT3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.632	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		T	NM_001008781		92615956	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	0.466	A	A	92615956	T	A	92615956	3	1	153	1	0	0	0	0	1	0	0	0	5709	1551	54	5	12424	5	FAT3	11	92615956	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	5953721	92615956	42390560	788	26762										
MED17	9440	genome.wustl.edu	37	chr11	93529609	93529609	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatttctttgtgccattcctCaaatgataagaaatcccaaa	4	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:93529609C>G	ENST00000251871.3	+	7	1333	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	349					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCCATTCCTCAAATGATAAG	0.358																																																	0													150	150	150					11																	93529609		2201	4298	6499	SO:0001587	stop_gained	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1046C>G	11.37:g.93529609C>G	ENSP00000251871:p.Ser349*		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Nonsense_Mutation	SNP	pfam_Mediator_Med17	p.S349*	ENST00000251871.3	37	c.1046	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.653182	0.98412	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	6.06	6.06	0.98353	.	0.230983	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-12.8912	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	349;319	.	ENSP00000251871:S349X	S	+	2	0	MED17	93169257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.021000	0.70832	2.882000	0.98803	0.655000	0.94253	TCA	MED17	-	pfam_Mediator_Med17		0.358	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	C	NM_004268		93529609	1	no_errors	ENST00000251871	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	93529609	C	G	93529609	4	3	153	1	0	0	0	0	0	1	0	0	9458	838	29	1	1072	1	MED17	11	93529609	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	913653	93529609	41476907	789	26763										
CWC15	51503	genome.wustl.edu	37	chr11	94703170	94703170	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taccttcctggcctgctcttCagctctttcttttttaattt	4	12	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:94703170C>G	ENST00000279839.6	-	5	546	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein	142					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCTGCTCTTCAGCTCTTTCT	0.318																																																	0													93	87	88					11																	94703170		1801	4070	5871	SO:0001583	missense	51503			AF161497	CCDS73369.1	11q21	2014-07-03	2014-07-03			ENSG00000150316			26939	protein-coding gene	gene with protein product			"CWC15 homolog (S. cerevisiae)", "CWC15 spliceosome-associated protein homolog (S. cerevisiae)"			10873569, 11884590	Standard	NM_016403		Approved	C11orf5, HSPC148, Cwf15, AD002	uc001pfd.4	Q9P013		ENST00000279839.6:c.424G>C	11.37:g.94703170C>G	ENSP00000475615:p.Glu142Gln		B2RC17|Q05BV9|Q05DM1|Q9UI29	RNA	SNP	-	NULL	ENST00000279839.6	37	NULL		11																																																																																			CWC15	-	-		0.318	CWC15-201	KNOWN	basic|appris_principal	protein_coding	CWC15	HGNC	protein_coding		C	NM_016403		94703170	-1	no_errors	ENST00000279839	ensembl	human	known	70_37	rna	SNP	1.000	G	G	94703170	C	G	94703170	3	3	153	1	0	0	0	0	1	0	0	0	4072	835	29	1	276	1	CWC15	11	94703170	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1173561	94703170	40303346	790	26764										
CEP57	9702	genome.wustl.edu	37	chr11	95564411	95564411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaagcagtagtttgtgttgGgattactgactcataaccag	10	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:95564411G>C	ENST00000325542.5	+	11	1732	c.1494G>C	c.(1492-1494)tgG>tgC	p.W498C	CEP57_ENST00000537677.1_Missense_Mutation_p.W471C|CEP57_ENST00000541150.1_Missense_Mutation_p.W489C|CEP57_ENST00000325486.5_Missense_Mutation_p.W472C	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	498					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTTGTGTTGGGATTACTGAC	0.348									Mosaic Variegated Aneuploidy Syndrome																																								0													38	39	39					11																	95564411		2201	4296	6497	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1494G>C	11.37:g.95564411G>C	ENSP00000317902:p.Trp498Cys		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.W498C	ENST00000325542.5	37	c.1494	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467708	0.63625	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.75050	-0.54;-0.67;-0.9;-0.66	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	D	0.85478	0.5706	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.86390	0.1735	10	0.87932	D	0	-9.375	19.4517	0.94871	0.0:0.0:1.0:0.0	.	489;472;498	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	C	471;498;472;489	ENSP00000441392:W471C;ENSP00000317902:W498C;ENSP00000317487:W472C;ENSP00000443436:W489C	ENSP00000317487:W472C	W	+	3	0	CEP57	95204059	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.842000	0.75379	2.583000	0.87209	0.557000	0.71058	TGG	CEP57	-	NULL		0.348	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	G	NM_014679		95564411	1	no_errors	ENST00000325542	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95564411	G	C	95564411	3	2	153	1	0	0	0	0	1	0	0	0	3261	1241	43	4	1536	4	CEP57	11	95564411	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	861241	95564411	39442105	791	26765										
CCDC82	79780	genome.wustl.edu	37	chr11	96117183	96117183	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctttgttttgagagttctttGagcttctgaagtttttctcg	9	6	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:96117183G>C	ENST00000278520.5	-	3	1157	c.729C>G	c.(727-729)ctC>ctG	p.L243L	CCDC82_ENST00000542662.1_Silent_p.L243L|CCDC82_ENST00000423339.2_Silent_p.L243L			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	243										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AGAGTTCTTTGAGCTTCTGAA	0.378																																																	0													101	100	100					11																	96117183		2201	4297	6498	SO:0001819	synonymous_variant	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.729C>G	11.37:g.96117183G>C			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.L243	ENST00000278520.5	37	c.729	CCDS8307.1	11																																																																																			CCDC82	-	NULL		0.378	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	G	NM_024725		96117183	-1	no_errors	ENST00000278520	ensembl	human	known	70_37	silent	SNP	0.339	C	C	96117183	G	C	96117183	2	2	153	1	0	0	0	0	0	0	0	1	2861	1277	45	1		1	CCDC82	11	96117183	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	552772	96117183	38889333	792	26766										
MMP27	64066	genome.wustl.edu	37	chr11	102567510	102567510	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggctgtttgatcattggagtGagagagccccagtgcatgac	14	8	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:102567510G>C	ENST00000260229.4	-	5	767	c.676C>G	c.(676-678)Cac>Gac	p.H226D		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	226					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCATTGGAGTGAGAGAGCCCC	0.418																																																	0													90	78	82					11																	102567510		2203	4299	6502	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.676C>G	11.37:g.102567510G>C	ENSP00000260229:p.His226Asp		Q6UWK6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.H226D	ENST00000260229.4	37	c.676	CCDS8319.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455272	0.84209	.	.	ENSG00000137675	ENST00000260229	D	0.83837	-1.77	5.74	5.74	0.90152	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000008	D	0.95771	0.8624	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97454	1.0030	10	0.87932	D	0	.	19.9306	0.97117	0.0:0.0:1.0:0.0	.	226	Q9H306	MMP27_HUMAN	D	226	ENSP00000260229:H226D	ENSP00000260229:H226D	H	-	1	0	MMP27	102072720	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.476000	0.97823	2.732000	0.93576	0.591000	0.81541	CAC	MMP27	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.418	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	HGNC	protein_coding	OTTHUMT00000398128.1	G	NM_022122		102567510	-1	no_errors	ENST00000260229	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102567510	G	C	102567510	3	2	153	1	0	0	0	0	1	0	0	0	9687	1290	45	1	889	1	MMP27	11	102567510	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6450327	102567510	32439006	793	26767										
MMP1	4312	genome.wustl.edu	37	chr11	102667487	102667487	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagcatgagcaagatttcctCcaggtccatcaaaaggagag	10	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:102667487C>G	ENST00000315274.6	-	4	600	c.533G>C	c.(532-534)gGa>gCa	p.G178A	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	178	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AAGATTTCCTCCAGGTCCATC	0.438																																																	0													123	108	113					11																	102667487		2203	4299	6502	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.533G>C	11.37:g.102667487C>G	ENSP00000322788:p.Gly178Ala		P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G178A	ENST00000315274.6	37	c.533	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	c	9.553	1.116470	0.20795	.	.	ENSG00000196611	ENST00000315274	T	0.27256	1.68	5.87	-0.511	0.11970	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.659654	0.14301	N	0.328247	T	0.27419	0.0673	M	0.77820	2.39	0.09310	N	1	B	0.31274	0.317	B	0.29942	0.109	T	0.19549	-1.0302	10	0.31617	T	0.26	.	11.1359	0.48375	0.0:0.4967:0.0:0.5033	.	178	P03956	MMP1_HUMAN	A	178	ENSP00000322788:G178A	ENSP00000322788:G178A	G	-	2	0	MMP1	102172697	0.000000	0.05858	0.004000	0.12327	0.734000	0.41952	-0.396000	0.07278	0.056000	0.16144	0.655000	0.94253	GGA	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.438	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	C	NM_002421		102667487	-1	no_errors	ENST00000315274	ensembl	human	known	70_37	missense	SNP	0.000	G	G	102667487	C	G	102667487	3	3	153	1	0	0	0	0	1	0	0	0	9671	855	30	1	904	1	MMP1	11	102667487	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	99977	102667487	32339029	794	26768										
MMP13	4322	genome.wustl.edu	37	chr11	102819836	102819836	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agttctggccaaaatgatttCgttaaaaacagctccgcatc	7	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:102819836C>T	ENST00000260302.3	-	7	997	c.969G>A	c.(967-969)acG>acA	p.T323T	MMP13_ENST00000340273.4_Silent_p.T323T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	323	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AAAATGATTTCGTTAAAAACA	0.423																																																	0													131	119	123					11																	102819836		2202	4299	6501	SO:0001819	synonymous_variant	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.969G>A	11.37:g.102819836C>T			A8K846|B2RCZ3|Q6NWN6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.T323	ENST00000260302.3	37	c.969	CCDS8324.1	11																																																																																			MMP13	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	C	NM_002427		102819836	-1	no_errors	ENST00000340273	ensembl	human	novel	70_37	silent	SNP	0.997	T	T	102819836	C	T	102819836	2	4	153	1	0	0	0	0	0	0	0	1	9675	871	31	1		1	MMP13	11	102819836	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	152349	102819836	32186680	795	26769										
GRIA4	2893	genome.wustl.edu	37	chr11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagggaattgacatggagaGgacactcaaacaggtaactc	11	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:105774694G>A	ENST00000530497.1	+	7	1040	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000393127.2_Missense_Mutation_p.R347K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	347					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACATGGAGAGGACACTCAAA	0.398																																																	0													83	89	87					11																	105774694		2202	4299	6501	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1040G>A	11.37:g.105774694G>A	ENSP00000435775:p.Arg347Lys		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R347K	ENST00000530497.1	37	c.1040	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.350140	0.95830	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	L	0.59436	1.845	0.80722	D	1	B;P;P	0.51057	0.005;0.94;0.941	B;D;P	0.70935	0.015;0.971;0.859	D	0.89390	0.3688	10	0.59425	D	0.04	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	347;347;347	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	K	347	ENSP00000376833:R347K;ENSP00000282499:R347K;ENSP00000376835:R347K;ENSP00000415551:R347K;ENSP00000435775:R347K;ENSP00000432180:R347K	ENSP00000282499:R347K	R	+	2	0	GRIA4	105279904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	AGG	GRIA4	-	pfam_ANF_lig-bd_rcpt		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	G			105774694	1	no_errors	ENST00000282499	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105774694	G	A	105774694	3	1	153	1	0	0	0	0	1	0	0	0	6790	1000	35	4	1066	4	GRIA4	11	105774694	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2954858	105774694	29231822	796	26770										
RDX	5962	genome.wustl.edu	37	chr11	110135560	110135560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgtctacatactgcagccCaaaaaaccagacctcacgca	6	15	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:110135560C>T	ENST00000343115.4	-	4	455	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.G46R|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.G46R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	46	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TACTGCAGCCCAAAAAACCAG	0.323																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													113	108	110					11																	110135560		2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.136G>A	11.37:g.110135560C>T	ENSP00000342830:p.Gly46Arg		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.G46R	ENST00000343115.4	37	c.136	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.129476	0.94473	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000532118;ENST00000533991	D;D;D;D;D	0.98207	-3.37;-3.37;-3.37;-4.79;-4.79	5.65	5.65	0.86999	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	D	0.98152	1.0442	10	0.87932	D	0	.	14.2932	0.66295	0.0:0.9288:0.0:0.0712	.	46;46	A7YIJ8;P35241	.;RADI_HUMAN	R	46;46;46;46;35;35	ENSP00000432112:G46R;ENSP00000384136:G46R;ENSP00000342830:G46R;ENSP00000437140:G35R;ENSP00000432572:G35R	ENSP00000342830:G46R	G	-	1	0	RDX	109640770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.041000	0.57339	2.822000	0.97130	0.650000	0.86243	GGG	RDX	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.323	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	C	NM_002906		110135560	-1	no_errors	ENST00000530749	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110135560	C	T	110135560	3	4	153	1	0	0	0	0	1	0	0	0	13228	594	21	4	1659	4	RDX	11	110135560	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4360866	110135560	24870956	797	26771										
C11orf88	399949	genome.wustl.edu	37	chr11	111385666	111385666	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtatccccctagcgaatctCagctggtgctgcgcagagac	11	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111385666C>T	ENST00000375618.4	+	1	157	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	C11orf88_ENST00000332814.6_Nonsense_Mutation_p.Q53*|BTG4_ENST00000356018.2_5'Flank|BTG4_ENST00000525791.1_5'Flank|MIR34B_ENST00000385076.1_RNA|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000529167.1_Nonsense_Mutation_p.Q53*|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	53										endometrium(1)|large_intestine(3)|lung(2)	6						TAGCGAATCTCAGCTGGTGCT	0.597											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55	62	60					11																	111385666		2116	4249	6365	SO:0001587	stop_gained	399949			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"hypothetical gene supported by BC039505"					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.157C>T	11.37:g.111385666C>T	ENSP00000364768:p.Gln53*	1434	E9PAN0|Q6ZRL3	Nonsense_Mutation	SNP	NULL	p.Q53*	ENST00000375618.4	37	c.157	CCDS41713.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435974	0.83885	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	5.13	5.13	0.70059	.	0.426837	0.22148	N	0.063945	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-13.8771	13.9476	0.64094	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000333845:Q53X	Q	+	1	0	C11orf88	110890876	0.859000	0.29813	0.982000	0.44146	0.712000	0.41017	4.499000	0.60380	2.670000	0.90874	0.467000	0.42956	CAG	C11orf88	-	NULL		0.597	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf88	HGNC	protein_coding	OTTHUMT00000391181.1	C	NM_001100388		111385666	1	no_errors	ENST00000529167	ensembl	human	known	70_37	nonsense	SNP	0.983	T	T	111385666	C	T	111385666	4	4	153	1	0	0	0	0	0	1	0	0	1674	827	29	1	159	1	C11orf88	11	111385666	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1250106	111385666	23620850	798	26772										
ALG9	79796	genome.wustl.edu	37	chr11	111680494	111680494	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataatggcatttactgatatCaatctgaaatggagaaaggc	9	5	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111680494C>G	ENST00000531154.1	-	14	1565	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	ALG9_ENST00000398006.2_Missense_Mutation_p.D358H|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	529					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TTACTGATATCAATCTGAAAT	0.393																																																	0													108	100	102					11																	111680494		1836	4079	5915	SO:0001583	missense	79796				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1093G>C	11.37:g.111680494C>G	ENSP00000435517:p.Asp365His		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.D365H	ENST00000531154.1	37	c.1093	CCDS41714.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.783339|2.783339	0.49891|0.49891	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306|ENST00000532425	D;D|.	0.82984|.	-1.67;-1.67|.	5.96|5.96	4.02|4.02	0.46733|0.46733	.|.	0.267985|.	0.43260|.	D|.	0.000581|.	T|T	0.77322|0.77322	0.4113|0.4113	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.855;0.993;0.977|.	P;P;P|.	0.58970|.	0.533;0.849;0.789|.	T|T	0.78623|0.78623	-0.2132|-0.2132	10|5	0.66056|.	D|.	0.02|.	-10.8102|-10.8102	10.8703|10.8703	0.46879|0.46879	0.0:0.8386:0.0:0.1614|0.0:0.8386:0.0:0.1614	.|.	358;536;529|.	B4DQI3;Q9H6U8-3;Q9H6U8|.	.;.;ALG9_HUMAN|.	H|F	365;358;762|113	ENSP00000435517:D365H;ENSP00000381090:D358H|.	ENSP00000381090:D358H|.	D|L	-|-	1|3	0|2	ALG9|ALG9	111185704|111185704	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.192000|0.192000	0.23643|0.23643	3.749000|3.749000	0.55150|0.55150	0.786000|0.786000	0.33708|0.33708	-0.345000|-0.345000	0.07892|0.07892	GAT|TTG	ALG9	-	NULL		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1	C	NM_024740		111680494	-1	no_errors	ENST00000531154	ensembl	human	known	70_37	missense	SNP	0.992	G	G	111680494	C	G	111680494	3	3	153	1	0	0	0	0	1	0	0	0	524	826	29	1	258	1	ALG9	11	111680494	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	294828	111680494	23326022	799	26773										
DLAT	1737	genome.wustl.edu	37	chr11	111915924	111915924	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagttcctacaggtgtcttCacagatatcccaatcagcaa	6	13	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111915924C>T	ENST00000280346.6	+	9	1919	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	DLAT_ENST00000393051.1_Silent_p.F315F|DLAT_ENST00000537636.1_Silent_p.F191F	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	420	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CAGGTGTCTTCACAGATATCC	0.468																																																	0													167	165	166					11																	111915924		2201	4297	6498	SO:0001819	synonymous_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1260C>T	11.37:g.111915924C>T			Q16783|Q53EP3	Silent	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.F420	ENST00000280346.6	37	c.1260	CCDS8354.1	11																																																																																			DLAT	-	pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L		0.468	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	C	NM_001931		111915924	1	no_errors	ENST00000280346	ensembl	human	known	70_37	silent	SNP	1.000	T	T	111915924	C	T	111915924	2	4	153	1	0	0	0	0	0	0	0	1	4559	825	29	1		1	DLAT	11	111915924	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	235430	111915924	23090592	800	26774										
USP28	57646	genome.wustl.edu	37	chr11	113674600	113674600	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctataatcttcatgccacttCtgaaaaagaatgacgattat	5	8	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:113674600C>G	ENST00000003302.4	-	22	2727		c.e22-1		USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATGCCACTTCTGAAAAAGAA	0.313																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													63	63	63					11																	113674600		2201	4296	6497	SO:0001630	splice_region_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2659-1G>C	11.37:g.113674600C>G			B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	-	e22-1	ENST00000003302.4	37	c.2659-1	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719771	0.89205	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113179810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.301000	0.78850	2.793000	0.96121	0.655000	0.94253	.	USP28	-	-		0.313	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	C		Intron	113674600	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	113674600	C	G	113674600	5	3	153	1	0	0	0	0	0	0	1	0	17089	927	32	1	591	1	USP28	11	113674600	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1758676	113674600	21331916	801	26775										
HTR3A	3359	genome.wustl.edu	37	chr11	113860273	113860273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtagccctcccccaccacctCgggaggcctcgctggcggtg	13	18	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:113860273C>T	ENST00000504030.2	+	9	1670	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	HTR3A_ENST00000299961.5_Missense_Mutation_p.R394W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R441W|HTR3A_ENST00000535865.1_Missense_Mutation_p.R153W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R415W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R447W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q. {ECO:0000269|PubMed:16487942}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCACCACCTCGGGAGGCCTC	0.637																																																	0													60	68	65					11																	113860273		2201	4296	6497	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1225C>T	11.37:g.113860273C>T	ENSP00000424189:p.Arg409Trp		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R447W	ENST00000504030.2	37	c.1339		11	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095916	0.36952	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.7	2.56	0.30785	.	0.431880	0.24611	N	0.037058	T	0.37517	0.1006	M	0.64170	1.965	0.20764	N	0.999854	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.56788	0.713;0.663;0.806	T	0.11591	-1.0581	10	0.62326	D	0.03	-33.1711	8.8347	0.35104	0.4923:0.3181:0.1896:0.0	.	394;447;415	B4DSY6;G5E986;Q7KZM7	.;.;.	W	409;447;415;441;153;394	ENSP00000424189:R409W;ENSP00000347754:R447W;ENSP00000364648:R415W;ENSP00000424776:R441W;ENSP00000437776:R153W;ENSP00000299961:R394W	ENSP00000299961:R394W	R	+	1	2	HTR3A	113365483	0.013000	0.17824	0.571000	0.28486	0.005000	0.04900	0.316000	0.19469	0.715000	0.32103	-0.175000	0.13238	CGG	HTR3A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.637	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	C	NM_000869		113860273	1	no_errors	ENST00000355556	ensembl	human	known	70_37	missense	SNP	0.127	T	T	113860273	C	T	113860273	3	4	153	1	0	0	0	0	1	0	0	0	7464	875	31	1	1395	1	HTR3A	11	113860273	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	185673	113860273	21146243	802	26776										
PAFAH1B2	5049	genome.wustl.edu	37	chr11	117038362	117038362	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaaacccctgcatgaactgAtcatgcagttgttggaggaa	11	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:117038362A>T	ENST00000527958.1	+	6	796	c.637A>T	c.(637-639)Atc>Ttc	p.I213F	PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000419197.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	213					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GCATGAACTGATCATGCAGTT	0.488			T	IGH@	MLCLS																																			Dom	yes		11	11q23	5049	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"		L	0													81	67	72					11																	117038362		2201	4296	6497	SO:0001583	missense	5049			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.637A>T	11.37:g.117038362A>T	ENSP00000435289:p.Ile213Phe		A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.I213F	ENST00000527958.1	37	c.637	CCDS8380.1	11	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065264	0.76187	.	.	ENSG00000168092	ENST00000527958;ENST00000304808	T;T	0.56941	0.62;0.43	5.49	5.49	0.81192	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.053461	0.85682	D	0.000000	T	0.53981	0.1830	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	P	0.45406	0.479	T	0.61187	-0.7113	10	0.87932	D	0	-9.1136	15.5836	0.76465	1.0:0.0:0.0:0.0	.	213	P68402	PA1B2_HUMAN	F	213;159	ENSP00000435289:I213F;ENSP00000304006:I159F	ENSP00000304006:I159F	I	+	1	0	PAFAH1B2	116543572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.227000	0.65305	2.096000	0.63516	0.460000	0.39030	ATC	PAFAH1B2	-	superfamily_Esterase_SGNH_hydro-type		0.488	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding	OTTHUMT00000392826.1	A	NM_002572		117038362	1	no_errors	ENST00000527958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117038362	A	T	117038362	3	4	153	1	0	0	0	0	1	0	0	0	11409	333	12	5	655	5	PAFAH1B2	11	117038362	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	3178089	117038362	17968154	803	26777										
ARCN1	372	genome.wustl.edu	37	chr11	118461080	118461080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catatgaagattgaagaaaaGataacattaacctgtggacg	9	5	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:118461080G>C	ENST00000264028.4	+	6	938	c.843G>C	c.(841-843)aaG>aaC	p.K281N	ARCN1_ENST00000392859.3_Missense_Mutation_p.K193N|ARCN1_ENST00000359415.4_Missense_Mutation_p.K322N|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	281	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGAAGAAAAGATAACATTAA	0.418																																																	0													102	89	94					11																	118461080		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.843G>C	11.37:g.118461080G>C	ENSP00000264028:p.Lys281Asn		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.K281N	ENST00000264028.4	37	c.843	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805557	0.70682	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.20881	2.04;2.04;2.04	5.86	3.86	0.44501	Clathrin adaptor, mu subunit, C-terminal (3);	0.041576	0.85682	D	0.000000	T	0.40272	0.1110	M	0.77820	2.39	0.80722	D	1	D;D;D	0.61697	0.969;0.973;0.99	P;P;D	0.65573	0.825;0.859;0.936	T	0.21759	-1.0236	10	0.45353	T	0.12	-5.1716	7.0841	0.25247	0.3607:0.0:0.6393:0.0	.	193;322;281	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	N	193;322;281	ENSP00000376599:K193N;ENSP00000352385:K322N;ENSP00000264028:K281N	ENSP00000264028:K281N	K	+	3	2	ARCN1	117966290	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.086000	0.41643	1.487000	0.48415	0.650000	0.86243	AAG	ARCN1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C		0.418	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	G			118461080	1	no_errors	ENST00000264028	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118461080	G	C	118461080	3	2	153	1	0	0	0	0	1	0	0	0	842	933	33	1	865	1	ARCN1	11	118461080	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1422718	118461080	16545436	804	26778										
ARHGAP32	9743	genome.wustl.edu	37	chr11	128851411	128851411	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactgaatcctcacttccatGaaagctgctgttccactgaa	7	12	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:128851411G>T	ENST00000310343.9	-	16	1637	c.1638C>A	c.(1636-1638)ttC>ttA	p.F546L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.F197L|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.F472L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.F197L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	546	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCACTTCCATGAAAGCTGCTG	0.473																																																	0													139	113	122					11																	128851411		2201	4297	6498	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1638C>A	11.37:g.128851411G>T	ENSP00000310561:p.Phe546Leu		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.F546L	ENST00000310343.9	37	c.1638	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523460	0.44866	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.7	4.79	0.61399	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.25825	0.765	0.52099	D	0.999949	P;P	0.47545	0.897;0.537	P;B	0.50270	0.636;0.262	T	0.16630	-1.0396	10	0.26408	T	0.33	.	11.6144	0.51080	0.1451:0.0:0.8549:0.0	.	480;546	Q86T64;A7KAX9	.;RHG32_HUMAN	L	546;197;472;480;197;256	ENSP00000310561:F546L;ENSP00000376425:F197L;ENSP00000432468:F472L;ENSP00000432862:F197L	ENSP00000310561:F546L	F	-	3	2	ARHGAP32	128356621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.568000	0.60857	1.422000	0.47177	0.655000	0.94253	TTC	ARHGAP32	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	G	NM_014715		128851411	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128851411	G	T	128851411	3	4	153	1	0	0	0	0	1	0	0	0	881	1281	45	3	4653	3	ARHGAP32	11	128851411	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	10390331	128851411	6155105	805	26779										
BARX2	8538	genome.wustl.edu	37	chr11	129306798	129306798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgctgaggccccagggggcGaggccctagccagcagcgag	17	14	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:129306798G>A	ENST00000281437.4	+	2	436	c.340G>A	c.(340-342)Gag>Aag	p.E114K	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	114					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCAGGGGGCGAGGCCCTAGC	0.682																																																	0													34	40	38					11																	129306798		2201	4297	6498	SO:0001583	missense	8538			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.340G>A	11.37:g.129306798G>A	ENSP00000281437:p.Glu114Lys		O43518|Q6NT51	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.E114K	ENST00000281437.4	37	c.340	CCDS8481.1	11	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288815	0.40494	.	.	ENSG00000043039	ENST00000281437	D	0.90261	-2.64	5.76	5.76	0.90799	Homeodomain-related (1);	0.272597	0.31709	N	0.007184	T	0.81616	0.4860	L	0.29908	0.895	0.80722	D	1	P	0.42161	0.772	B	0.24394	0.053	T	0.81411	-0.0945	10	0.12430	T	0.62	.	18.5398	0.91023	0.0:0.0:1.0:0.0	.	114	Q9UMQ3	BARX2_HUMAN	K	114	ENSP00000281437:E114K	ENSP00000281437:E114K	E	+	1	0	BARX2	128812008	1.000000	0.71417	0.576000	0.28549	0.052000	0.14988	7.106000	0.77039	2.713000	0.92767	0.655000	0.94253	GAG	BARX2	-	NULL		0.682	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX2	HGNC	protein_coding	OTTHUMT00000386153.1	G	NM_003658		129306798	1	no_errors	ENST00000281437	ensembl	human	known	70_37	missense	SNP	0.997	A	A	129306798	G	A	129306798	3	1	153	1	0	0	0	0	1	0	0	0	1317	1059	37	1	346	1	BARX2	11	129306798	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	455387	129306798	5699718	806	26780										
ADAMTS8	11095	genome.wustl.edu	37	chr11	130275551	130275551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccggaggggtccctgcactCtacagttcgcctctgccagc	12	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:130275551C>T	ENST00000257359.6	-	9	3278	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	858	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCCTGCACTCTACAGTTCGC	0.647																																																	0													52	63	59					11																	130275551		2011	4179	6190	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2572G>A	11.37:g.130275551C>T	ENSP00000257359:p.Glu858Lys		Q9NZS0	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.E858K	ENST00000257359.6	37	c.2572	CCDS41732.1	11	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281769	0.59758	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.52295	0.67	5.35	4.43	0.53597	.	0.145903	0.64402	D	0.000012	T	0.44265	0.1285	L	0.33624	1.015	0.58432	D	0.999991	B;P	0.38473	0.142;0.633	B;P	0.46389	0.216;0.515	T	0.17561	-1.0365	10	0.08381	T	0.77	.	16.0373	0.80640	0.0:0.8653:0.1347:0.0	.	858;339	Q9UP79;B3KVX9	ATS8_HUMAN;.	K	256;858;887	ENSP00000257359:E858K	ENSP00000257359:E858K	E	-	1	0	ADAMTS8	129780761	1.000000	0.71417	0.998000	0.56505	0.437000	0.31866	5.785000	0.68998	1.236000	0.43740	0.591000	0.81541	GAG	ADAMTS8	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1	C	NM_007037		130275551	-1	no_errors	ENST00000257359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130275551	C	T	130275551	3	4	153	1	0	0	0	0	1	0	0	0	272	922	32	1	101	1	ADAMTS8	11	130275551	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	968753	130275551	4730965	807	26781										
CACNA1C	775	genome.wustl.edu	37	chr12	2711064	2711064	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacaagggttctttctgccgGaactacttcaacatcctgga	8	12	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:2711064G>C	ENST00000347598.4	+	23	2958	c.2958G>C	c.(2956-2958)cgG>cgC	p.R986R	CACNA1C_ENST00000399634.1_Silent_p.R966R|CACNA1C_ENST00000399629.1_Silent_p.R966R|CACNA1C_ENST00000399595.1_Silent_p.R966R|CACNA1C_ENST00000327702.7_Silent_p.R966R|CACNA1C_ENST00000399655.1_Silent_p.R966R|CACNA1C_ENST00000399649.1_Silent_p.R966R|CACNA1C_ENST00000399621.1_Silent_p.R966R|CACNA1C_ENST00000344100.3_Silent_p.R966R|CACNA1C_ENST00000399644.1_Silent_p.R966R|CACNA1C_ENST00000406454.3_Silent_p.R966R|CACNA1C_ENST00000399617.1_Silent_p.R966R|CACNA1C_ENST00000399603.1_Silent_p.R966R|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399638.1_Silent_p.R966R|CACNA1C_ENST00000399641.1_Silent_p.R966R|CACNA1C_ENST00000399597.1_Silent_p.R966R|CACNA1C_ENST00000402845.3_Silent_p.R966R|CACNA1C_ENST00000399591.1_Silent_p.R966R|CACNA1C_ENST00000399606.1_Silent_p.R986R|CACNA1C_ENST00000335762.5_Silent_p.R991R|CACNA1C_ENST00000480911.1_Silent_p.R966R|CACNA1C_ENST00000399637.1_Silent_p.R966R|CACNA1C_ENST00000399601.1_Silent_p.R966R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	986					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTCTGCCGGAACTACTTCA	0.577																																																	0													156	157	157					12																	2711064		2203	4300	6503	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2958G>C	12.37:g.2711064G>C			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R966	ENST00000347598.4	37	c.2898	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2711064	1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	1.000	C	C	2711064	G	C	2711064	2	2	153	1	0	0	0	0	0	0	0	1	2545	1161	41	1		1	CACNA1C	12	2711064	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		2711064	131140831	808	26782										
KCNA6	3742	genome.wustl.edu	37	chr12	4920131	4920131	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggctatcttcccctacttCatcaccctgggcactgagct	8	15	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:4920131C>T	ENST00000280684.3	+	1	1790	c.924C>T	c.(922-924)ttC>ttT	p.F308F	KCNA6_ENST00000433855.1_Silent_p.F308F|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	308					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCCCCTACTTCATCACCCTGG	0.602										HNSCC(72;0.22)																																							0													76	67	70					12																	4920131		2203	4300	6503	SO:0001819	synonymous_variant	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.924C>T	12.37:g.4920131C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.F308	ENST00000280684.3	37	c.924	CCDS8534.1	12																																																																																			KCNA6	-	pfam_Ion_trans_dom,prints_K_chnl		0.602	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	C	NM_002235		4920131	1	no_errors	ENST00000280684	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4920131	C	T	4920131	2	4	153	1	0	0	0	0	0	0	0	1	8027	825	29	1		1	KCNA6	12	4920131	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2209067	4920131	128931764	809	26783										
CHD4	1108	genome.wustl.edu	37	chr12	6692280	6692280	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggactggtcgtcctgccaatCtggagggagagagggcagat	17	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:6692280C>G	ENST00000357008.2	-	27	4224		c.e27-1		SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Missense_Mutation_p.D1379H|CHD4_ENST00000540960.1_Splice_Site|CHD4_ENST00000309577.6_Missense_Mutation_p.D1382H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCTGCCAATCTGGAGGGAGA	0.617																																					Colon(32;586 792 4568 16848 45314)												0													84	84	84					12																	6692280		2203	4300	6503	SO:0001630	splice_region_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4061-1G>C	12.37:g.6692280C>G			Q8IXZ5	Splice_Site	SNP	-	e26-1	ENST00000357008.2	37	c.4061-1	CCDS8552.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.36|19.36	3.813181|3.813181	0.70912|0.70912	.|.	.|.	ENSG00000111642|ENSG00000111642	ENST00000544040;ENST00000357008;ENST00000537464|ENST00000544484;ENST00000309577	.|D;D	.|0.90844	.|-2.74;-2.73	5.83|5.83	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95513	.|0.8542	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.95955	.|0.8957	.|9	.|0.66056	.|D	.|0.02	.|-10.8511	16.3757|16.3757	0.83387|0.83387	0.1328:0.8672:0.0:0.0|0.1328:0.8672:0.0:0.0	.|.	.|1382	.|Q14839-2	.|.	.|H	-1|1379;1382	.|ENSP00000440392:D1379H;ENSP00000312419:D1382H	.|ENSP00000312419:D1382H	.|D	-|-	.|1	.|0	CHD4|CHD4	6562541|6562541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	1.458000|1.458000	0.47871|0.47871	0.563000|0.563000	0.77884|0.77884	.|GAT	CHD4	-	-		0.617	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273	Intron	6692280	-1	no_errors	ENST00000357008	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	6692280	C	G	6692280	5	3	153	1	0	0	0	0	0	0	1	0	3332	927	32	1	1734	1	CHD4	12	6692280	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1772149	6692280	127159615	810	26784										
CDCA3	83461	genome.wustl.edu	37	chr12	6958994	6958994	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagtttcaaatacttcactCagctgtttcaccagtgggct	7	11	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:6958994C>G	ENST00000538862.2	-	4	1180	c.279G>C	c.(277-279)ctG>ctC	p.L93L	USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000229265.6_Intron|CDCA3_ENST00000422785.3_Silent_p.L93L|CDCA3_ENST00000535406.1_Silent_p.L93L|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000540683.1_Silent_p.L93L|USP5_ENST00000389231.5_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	93	F-box-like.				mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATACTTCACTCAGCTGTTTCA	0.463																																																	0													69	78	75					12																	6958994		2200	4299	6499	SO:0001819	synonymous_variant	83461			BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.279G>C	12.37:g.6958994C>G			A8K5V6|D3DUS6	Silent	SNP	NULL	p.L93	ENST00000538862.2	37	c.279	CCDS8565.1	12																																																																																			CDCA3	-	NULL		0.463	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA3	HGNC	protein_coding	OTTHUMT00000401940.2	C	NM_031299		6958994	-1	no_errors	ENST00000538862	ensembl	human	known	70_37	silent	SNP	0.999	G	G	6958994	C	G	6958994	2	3	153	1	0	0	0	0	0	0	0	1	3092	813	29	1		1	CDCA3	12	6958994	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	266714	6958994	126892901	811	26785										
GRIN2B	2904	genome.wustl.edu	37	chr12	13716489	13716489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgagttctgacccgtcaccGtcgtggagtagttgtgcagc	13	12	2	1	rs75670883		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:13716489G>A	ENST00000609686.1	-	13	3892	c.3683C>T	c.(3682-3684)aCg>aTg	p.T1228M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1228					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCCGTCACCGTCGTGGAGTA	0.607																																																	0													72	77	76					12																	13716489		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3683C>T	12.37:g.13716489G>A	ENSP00000477455:p.Thr1228Met		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T1228M	ENST00000609686.1	37	c.3683	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	G	0.251	-1.006250	0.02112	.	.	ENSG00000150086	ENST00000279593	T	0.11712	2.75	5.3	3.48	0.39840	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.881635	0.10189	N	0.704824	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	P	0.34977	0.478	B	0.38803	0.282	T	0.42965	-0.9420	10	0.35671	T	0.21	.	10.2249	0.43220	0.1537:0.0:0.8463:0.0	.	1228	Q13224	NMDE2_HUMAN	M	1228	ENSP00000279593:T1228M	ENSP00000279593:T1228M	T	-	2	0	GRIN2B	13607756	0.385000	0.25172	0.003000	0.11579	0.009000	0.06853	3.946000	0.56644	0.731000	0.32448	0.655000	0.94253	ACG	GRIN2B	-	pfam_NMDAR2_C		0.607	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	G			13716489	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	missense	SNP	0.019	A	A	13716489	G	A	13716489	3	1	153	1	0	0	0	0	1	0	0	0	6800	1145	40	2	775	2	GRIN2B	12	13716489	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6757495	13716489	120135406	812	26786										
STRAP	11171	genome.wustl.edu	37	chr12	16052915	16052915	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aactctatgccagtggttcaGaagatggaacattgagacta	10	7	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:16052915G>C	ENST00000419869.2	+	8	1166	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	STRAP_ENST00000538352.1_Missense_Mutation_p.E191Q|STRAP_ENST00000025399.6_Missense_Mutation_p.E298Q	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	285					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAGTGGTTCAGAAGATGGAAC	0.393																																																	0													114	111	112					12																	16052915		2203	4300	6503	SO:0001583	missense	11171			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.853G>C	12.37:g.16052915G>C	ENSP00000392270:p.Glu285Gln		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E298Q	ENST00000419869.2	37	c.892	CCDS8676.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.841487|4.841487	0.91197|0.91197	.|.	.|.	ENSG00000023734|ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869|ENST00000538718	T;T;T|.	0.60672|.	0.17;0.17;0.17|.	4.76|4.76	4.76|4.76	0.60689|0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.102169|.	0.64402|.	D|.	0.000002|.	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.57124|0.57124	-0.7865|-0.7865	10|5	0.51188|.	T|.	0.08|.	-23.7046|-23.7046	18.3915|18.3915	0.90485|0.90485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	298;285|.	B4DNJ6;Q9Y3F4|.	.;STRAP_HUMAN|.	Q|T	191;298;285|51	ENSP00000439761:E191Q;ENSP00000025399:E298Q;ENSP00000392270:E285Q|.	ENSP00000025399:E298Q|.	E|R	+|+	1|2	0|0	STRAP|STRAP	15944182|15944182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.146000|9.146000	0.94640|0.94640	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GAA|AGA	STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	G	NM_007178		16052915	1	no_errors	ENST00000025399	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16052915	G	C	16052915	3	2	153	1	0	0	0	0	1	0	0	0	15356	943	33	1	883	1	STRAP	12	16052915	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2336426	16052915	117798980	813	26787										
ITPR2	3709	genome.wustl.edu	37	chr12	26816701	26816701	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttgtagggtgcatatctttGatcccccagatcttcaagtc	8	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:26816701G>C	ENST00000381340.3	-	15	2046	c.1630C>G	c.(1630-1632)Caa>Gaa	p.Q544E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	544					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCATATCTTTGATCCCCCAGA	0.483																																																	0													269	265	266					12																	26816701		1889	4125	6014	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1630C>G	12.37:g.26816701G>C	ENSP00000370744:p.Gln544Glu		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.Q544E	ENST00000381340.3	37	c.1630	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534106	0.85812	.	.	ENSG00000123104	ENST00000381340	D	0.88975	-2.45	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.72576	2.205	0.80722	D	1	P	0.51537	0.946	P	0.62298	0.9	D	0.89677	0.3888	10	0.13470	T	0.59	.	18.2276	0.89923	0.0:0.0:1.0:0.0	.	544	Q14571	ITPR2_HUMAN	E	544	ENSP00000370744:Q544E	ENSP00000370744:Q544E	Q	-	1	0	ITPR2	26707968	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	9.640000	0.98453	2.596000	0.87737	0.655000	0.94253	CAA	ITPR2	-	pfam_Ca-rel_channel		0.483	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	G	NM_002223		26816701	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26816701	G	C	26816701	3	2	153	1	0	0	0	0	1	0	0	0	7941	1299	45	1	6647	1	ITPR2	12	26816701	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	10763786	26816701	107035194	814	26788										
LRRK2	120892	genome.wustl.edu	37	chr12	40758834	40758834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgtaattcggtcagagtcAtgatgacagcacagctaggc	11	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:40758834A>G	ENST00000298910.7	+	49	7430	c.7372A>G	c.(7372-7374)Atg>Gtg	p.M2458V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2458					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTCAGAGTCATGATGACAGC	0.348																																																	0													79	74	76					12																	40758834		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7372A>G	12.37:g.40758834A>G	ENSP00000298910:p.Met2458Val		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.M2458V	ENST00000298910.7	37	c.7372	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252718	0.39797	.	.	ENSG00000188906	ENST00000298910	T	0.30714	1.52	5.29	4.1	0.47936	WD40 repeat-like-containing domain (1);	0.074410	0.85682	D	0.000000	T	0.29620	0.0739	L	0.54323	1.7	0.40372	D	0.979351	B;B	0.31318	0.319;0.319	B;B	0.29785	0.107;0.107	T	0.26538	-1.0100	10	0.66056	D	0.02	.	12.3914	0.55360	0.8599:0.1401:0.0:0.0	.	2458;2458	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	2458	ENSP00000298910:M2458V	ENSP00000298910:M2458V	M	+	1	0	LRRK2	39045101	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.872000	0.63050	1.996000	0.58369	0.477000	0.44152	ATG	LRRK2	-	superfamily_WD40_repeat_dom		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	A	XM_058513		40758834	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40758834	A	G	40758834	3	3	153	1	0	0	0	0	1	0	0	0	9056	217	8	5	7566	5	LRRK2	12	40758834	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	13942133	40758834	93093061	815	26789										
GXYLT1	283464	genome.wustl.edu	37	chr12	42503418	42503418	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttaaagagttttttccactCtgctgcattctcacttggaa	6	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:42503418C>T	ENST00000398675.3	-	4	794	c.562G>A	c.(562-564)Gag>Aag	p.E188K	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E157K	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	188					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TTTTTCCACTCTGCTGCATTC	0.313																																																	0													32	32	32					12																	42503418		1809	4063	5872	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.562G>A	12.37:g.42503418C>T	ENSP00000381666:p.Glu188Lys		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E188K	ENST00000398675.3	37	c.562	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367380	0.82463	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.21361	2.01;2.01	5.53	5.53	0.82687	.	0.047747	0.85682	D	0.000000	T	0.36991	0.0987	M	0.88310	2.945	0.80722	D	1	B;B	0.26445	0.123;0.149	B;B	0.31614	0.127;0.133	T	0.29610	-1.0006	10	0.21014	T	0.42	2.9845	19.6556	0.95837	0.0:1.0:0.0:0.0	.	157;188	Q4G148-2;Q4G148	.;GXLT1_HUMAN	K	188;157	ENSP00000381666:E188K;ENSP00000280876:E157K	ENSP00000280876:E157K	E	-	1	0	GXYLT1	40789685	1.000000	0.71417	0.384000	0.26145	0.937000	0.57800	7.604000	0.82830	2.882000	0.98803	0.655000	0.94253	GAG	GXYLT1	-	pfam_Glyco_trans_8		0.313	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	C	XM_290597		42503418	-1	no_errors	ENST00000398675	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42503418	C	T	42503418	3	4	153	1	0	0	0	0	1	0	0	0	6923	922	32	1	780	1	GXYLT1	12	42503418	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1744584	42503418	91348477	816	26790										
SLC38A2	54407	genome.wustl.edu	37	chr12	46756857	46756857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agccattaacacagccagacGgacaatgagaagaagaatat	9	8	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:46756857G>A	ENST00000256689.5	-	13	1570	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Missense_Mutation_p.R214C	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	376					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACAGCCAGACGGACAATGAGA	0.398																																					Ovarian(9;448 492 8335 28722 40361)												0													146	131	136					12																	46756857		2203	4299	6502	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1126C>T	12.37:g.46756857G>A	ENSP00000256689:p.Arg376Cys		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R376C	ENST00000256689.5	37	c.1126	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634328	0.87660	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02709	4.19;4.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;D;D	0.91635	0.966;0.962;0.999	T	0.01004	-1.1484	10	0.87932	D	0	-11.206	14.839	0.70209	0.0:0.0:0.8562:0.1438	.	214;276;376	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	C	376;214	ENSP00000256689:R376C;ENSP00000450406:R214C	ENSP00000256689:R376C	R	-	1	0	SLC38A2	45043124	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.202000	0.72131	2.729000	0.93468	0.563000	0.77884	CGT	SLC38A2	-	pfam_AA_transpt_TM		0.398	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	G			46756857	-1	no_errors	ENST00000256689	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46756857	G	A	46756857	3	1	153	1	0	0	0	0	1	0	0	0	14634	1116	39	2	410	2	SLC38A2	12	46756857	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4253439	46756857	87095038	817	26791										
COL2A1	1280	genome.wustl.edu	37	chr12	48369760	48369760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttacagcagggccggtttCgcctgatcgtccacggggac	13	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:48369760C>T	ENST00000380518.3	-	50	3747	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1126K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1195	Triple-helical region.		Missing (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGCCGGTTTCGCCTGATCGT	0.607																																																	0													123	120	121					12																	48369760		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3583G>A	12.37:g.48369760C>T	ENSP00000369889:p.Glu1195Lys		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1195K	ENST00000380518.3	37	c.3583	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583390	0.86748	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94184	-3.37;-3.37	5.11	5.11	0.69529	.	0.060920	0.64402	D	0.000007	D	0.95332	0.8485	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.77004	0.956;0.989	D	0.95694	0.8743	10	0.62326	D	0.03	.	17.3225	0.87239	0.0:1.0:0.0:0.0	.	1126;1195	P02458-1;P02458	.;CO2A1_HUMAN	K	1195;1126;1126	ENSP00000369889:E1195K;ENSP00000338213:E1126K	ENSP00000338213:E1126K	E	-	1	0	COL2A1	46656027	0.956000	0.32656	0.998000	0.56505	0.963000	0.63663	3.313000	0.51935	2.379000	0.81126	0.462000	0.41574	GAA	COL2A1	-	pfam_Collagen		0.607	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48369760	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48369760	C	T	48369760	3	4	153	1	0	0	0	0	1	0	0	0	3692	893	31	1	900	1	COL2A1	12	48369760	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1612903	48369760	85482135	818	26792										
OR8S1	341568	genome.wustl.edu	37	chr12	48919717	48919717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagggctgcctggctcaggtCttctttgtgtttgtcactgc	13	10	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:48919717C>T	ENST00000310194.1	+	1	303	c.303C>T	c.(301-303)gtC>gtT	p.V101V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGCTCAGGTCTTCTTTGTGT	0.522																																																	0													99	95	96					12																	48919717		2203	4300	6503	SO:0001819	synonymous_variant	341568				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.303C>T	12.37:g.48919717C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V101	ENST00000310194.1	37	c.303	CCDS31789.1	12																																																																																			OR8S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.522	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	C			48919717	1	no_errors	ENST00000310194	ensembl	human	known	70_37	silent	SNP	0.836	T	T	48919717	C	T	48919717	2	4	153	1	0	0	0	0	0	0	0	1	11270	900	32	1		1	OR8S1	12	48919717	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	549957	48919717	84932178	819	26793										
MLL2	8085	genome.wustl.edu	37	chr12	49431395	49431395	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgctccaacaggtcctcaatGagcaggggtaactcgctggc	12	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:49431395G>C	ENST00000301067.7	-	34	9743	c.9744C>G	c.(9742-9744)ctC>ctG	p.L3248L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3248					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTCCTCAATGAGCAGGGGTA	0.572																																																	0													30	30	30					12																	49431395		2129	4256	6385	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9744C>G	12.37:g.49431395G>C			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3248	ENST00000301067.7	37	c.9744	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49431395	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.994	C	C	49431395	G	C	49431395	2	2	153	1	0	0	0	0	0	0	0	1	9644	1277	45	1		1	MLL2	12	49431395	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	511678	49431395	84420500	820	26794										
FMNL3	91010	genome.wustl.edu	37	chr12	50047597	50047597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaacccccgacatcaaacaCgttgtccagatatgcctgaa	6	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:50047597C>T	ENST00000293590.5	-	12	1365	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	FMNL3_ENST00000335154.5_Missense_Mutation_p.V378M|FMNL3_ENST00000550488.1_Missense_Mutation_p.V378M|FMNL3_ENST00000352151.5_Missense_Mutation_p.V327M			Q8IVF7	FMNL3_HUMAN	formin-like 3	378	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.V378M(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACATCAAACACGTTGTCCAGA	0.532																																																	1	Substitution - Missense(1)	ovary(1)											177	178	178					12																	50047597		2022	4183	6205	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1132G>A	12.37:g.50047597C>T	ENSP00000293590:p.Val378Met		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.V378M	ENST00000293590.5	37	c.1132		12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009247	0.75046	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.85660	0.1288	10	0.25751	T	0.34	.	19.3176	0.94223	0.0:1.0:0.0:0.0	.	327;378	Q8IVF7-2;Q8IVF7-3	.;.	M	378;378;327;378	ENSP00000335655:V378M;ENSP00000447479:V378M;ENSP00000344311:V327M;ENSP00000293590:V378M	ENSP00000293590:V378M	V	-	1	0	FMNL3	48333864	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG	FMNL3	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.532	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		C	NM_175736		50047597	-1	no_errors	ENST00000293590	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50047597	C	T	50047597	3	4	153	1	0	0	0	0	1	0	0	0	5971	536	19	2	2011	2	FMNL3	12	50047597	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	616202	50047597	83804298	821	26795										
AQP2	359	genome.wustl.edu	37	chr12	50344910	50344910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagctgctgggggctgtggcCggagccgctctgctccatga	16	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:50344910C>T	ENST00000199280.3	+	1	382	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	99					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGGCTGTGGCCGGAGCCGCTC	0.647																																																	0													21	21	21					12																	50344910		2202	4295	6497	SO:0001819	synonymous_variant	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.297C>T	12.37:g.50344910C>T			Q9UD68	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.A99	ENST00000199280.3	37	c.297	CCDS8792.1	12																																																																																			AQP2	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.647	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50344910	1	no_errors	ENST00000199280	ensembl	human	known	70_37	silent	SNP	0.007	T	T	50344910	C	T	50344910	2	4	153	1	0	0	0	0	0	0	0	1	826	639	23	2		2	AQP2	12	50344910	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	297313	50344910	83506985	822	26796										
BIN2	51411	genome.wustl.edu	37	chr12	51685700	51685700	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcttctttggttgttcagatCcttcacttgcggtgcgggtt	11	9	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:51685700C>G	ENST00000267012.4	-	10	1251	c.1190G>C	c.(1189-1191)gGa>gCa	p.G397A	BIN2_ENST00000604560.1_Missense_Mutation_p.G370A|BIN2_ENST00000544402.1_Missense_Mutation_p.G371A|BIN2_ENST00000452142.2_Missense_Mutation_p.G365A	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	397					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGTTCAGATCCTTCACTTGC	0.597																																																	0													91	84	86					12																	51685700		2203	4300	6503	SO:0001583	missense	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1190G>C	12.37:g.51685700C>G	ENSP00000267012:p.Gly397Ala		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.G397A	ENST00000267012.4	37	c.1190	CCDS8811.1	12	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949725	0.34377	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96651	-4.08;-0.22;-0.37	4.62	3.73	0.42828	.	0.790691	0.11412	N	0.566705	D	0.95796	0.8632	L	0.36672	1.1	0.30201	N	0.798606	D;D;D	0.69078	0.997;0.994;0.996	D;P;P	0.63957	0.92;0.887;0.835	D	0.90981	0.4827	10	0.29301	T	0.29	-10.4129	8.7846	0.34811	0.0:0.8969:0.0:0.1031	.	371;365;397	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	A	365;397;371	ENSP00000410217:G365A;ENSP00000267012:G397A;ENSP00000445874:G371A	ENSP00000267012:G397A	G	-	2	0	BIN2	49971967	0.836000	0.29430	0.856000	0.33681	0.092000	0.18411	1.254000	0.32897	1.317000	0.45149	0.655000	0.94253	GGA	BIN2	-	NULL		0.597	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	C			51685700	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	missense	SNP	0.900	G	G	51685700	C	G	51685700	3	3	153	1	0	0	0	0	1	0	0	0	1434	855	30	1	523	1	BIN2	12	51685700	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1340790	51685700	82166195	823	26797										
KRT6C	286887	genome.wustl.edu	37	chr12	52863516	52863516	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccacatccagggccagcttGacattcatcagctcctggta	8	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52863516G>C	ENST00000252250.6	-	7	1409	c.1362C>G	c.(1360-1362)gtC>gtG	p.V454V		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	454	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GGGCCAGCTTGACATTCATCA	0.597																																																	0													117	103	108					12																	52863516		2203	4300	6503	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1362C>G	12.37:g.52863516G>C			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V454	ENST00000252250.6	37	c.1362	CCDS8829.1	12																																																																																			KRT6C	-	pfam_F,superfamily_Prefoldin		0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	G	NM_173086		52863516	-1	no_errors	ENST00000252250	ensembl	human	known	70_37	silent	SNP	0.997	C	C	52863516	G	C	52863516	2	2	153	1	0	0	0	0	0	0	0	1	8502	1277	45	1		1	KRT6C	12	52863516	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1177816	52863516	80988379	824	26798										
KRT5	3852	genome.wustl.edu	37	chr12	52908959	52908959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaggccgccgccaagacctcCaccgaggccaccgccatagc	11	19	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52908959C>T	ENST00000252242.4	-	9	1930	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	514	Tail.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ccaagacctccaccgaggcca	0.617																																																	0													38	35	36					12																	52908959		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1540G>A	12.37:g.52908959C>T	ENSP00000252242:p.Gly514Arg		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G514R	ENST00000252242.4	37	c.1540	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330983	0.41297	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.96200	-3.94	5.56	2.6	0.31112	.	7739.210000	0.00166	N	0.000004	D	0.91758	0.7393	N	0.25485	0.75	0.09310	N	1	P	0.38195	0.622	B	0.38106	0.265	D	0.85494	0.1187	10	0.35671	T	0.21	.	6.6574	0.22994	0.1462:0.6952:0.0:0.1586	.	514	P13647	K2C5_HUMAN	R	514;479	ENSP00000252242:G514R	ENSP00000252242:G514R	G	-	1	0	KRT5	51195226	0.009000	0.17119	0.044000	0.18714	0.015000	0.08874	0.395000	0.20850	1.343000	0.45638	0.655000	0.94253	GGA	KRT5	-	NULL		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	C			52908959	-1	no_errors	ENST00000252242	ensembl	human	known	70_37	missense	SNP	0.003	T	T	52908959	C	T	52908959	3	4	153	1	0	0	0	0	1	0	0	0	8499	603	21	4	236	4	KRT5	12	52908959	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	45443	52908959	80942936	825	26799										
KRT71	112802	genome.wustl.edu	37	chr12	52940257	52940257	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcgttgtctccccgctgctCagcatcagcgatggctgtct	12	14	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52940257C>G	ENST00000267119.5	-	7	1207	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	380	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCCCGCTGCTCAGCATCAGCG	0.607																																																	0													50	48	49					12																	52940257		2203	4300	6503	SO:0001583	missense	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1138G>C	12.37:g.52940257C>G	ENSP00000267119:p.Glu380Gln		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E380Q	ENST00000267119.5	37	c.1138	CCDS8831.1	12	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124983	0.56613	.	.	ENSG00000139648	ENST00000267119	D	0.91996	-2.95	4.58	3.68	0.42216	Filament (1);	0.000000	0.43919	D	0.000504	D	0.96034	0.8708	M	0.88906	2.99	0.41772	D	0.989779	D	0.89917	1.0	D	0.97110	1.0	D	0.96119	0.9083	10	0.72032	D	0.01	.	11.0337	0.47789	0.0:0.8431:0.0:0.1569	.	380	Q3SY84	K2C71_HUMAN	Q	380	ENSP00000267119:E380Q	ENSP00000267119:E380Q	E	-	1	0	KRT71	51226524	1.000000	0.71417	0.597000	0.28824	0.370000	0.29829	4.933000	0.63484	1.233000	0.43693	0.561000	0.74099	GAG	KRT71	-	pfam_F,superfamily_Prefoldin		0.607	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52940257	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	missense	SNP	0.995	G	G	52940257	C	G	52940257	3	3	153	1	0	0	0	0	1	0	0	0	8504	835	29	1	445	1	KRT71	12	52940257	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	31298	52940257	80911638	826	26800										
KRT18	3875	genome.wustl.edu	37	chr12	53344642	53344642	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcagctggagacagagatCgaggctctcaaggaggagct	15	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53344642C>T	ENST00000388835.3	+	3	819	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT18_ENST00000388837.2_Silent_p.I203I|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Silent_p.I203I|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572																																																	0													23	18	20					12																	53344642		2203	4300	6503	SO:0001819	synonymous_variant	3875				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.609C>T	12.37:g.53344642C>T			Q53G38|Q5U0N8|Q9BW26	Silent	SNP	pfam_F,prints_Keratin_I	p.I203	ENST00000388835.3	37	c.609	CCDS31809.1	12																																																																																			KRT18	-	pfam_F		0.572	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	C	NM_199187		53344642	1	no_errors	ENST00000388835	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53344642	C	T	53344642	2	4	153	1	0	0	0	0	0	0	0	1	8475	874	31	1		1	KRT18	12	53344642	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	404385	53344642	80507253	827	26801										
EIF4B	1975	genome.wustl.edu	37	chr12	53410310	53410310	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccctaacagactttctggctGaggatgggggtactggtgga	15	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53410310G>T	ENST00000262056.9	+	2	393	c.67G>T	c.(67-69)Gag>Tag	p.E23*	RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.2_ENST00000435621.3_RNA|EIF4B_ENST00000420463.3_Nonsense_Mutation_p.E23*|EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000416762.3_Nonsense_Mutation_p.E23*	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCTGGCTGAGGATGGGGG	0.428																																																	0													98	91	93					12																	53410310		1830	4075	5905	SO:0001587	stop_gained	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.67G>T	12.37:g.53410310G>T	ENSP00000262056:p.Glu23*		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E23*	ENST00000262056.9	37	c.67	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173699	0.78452	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	.	.	.	4.65	4.65	0.58169	.	0.052527	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.9794	0.86323	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000262056:E23X	E	+	1	0	EIF4B	51696577	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	9.528000	0.98046	2.511000	0.84671	0.561000	0.74099	GAG	EIF4B	-	NULL		0.428	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	G	NM_001417		53410310	1	no_errors	ENST00000262056	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	53410310	G	T	53410310	4	4	153	1	0	0	0	0	0	1	0	0	5039	1291	45	3	73	3	EIF4B	12	53410310	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	65668	53410310	80441585	828	26802										
TENC1	23371	genome.wustl.edu	37	chr12	53454751	53454751	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgccccctggcaaggccctCgaggcccccccgacagccca	10	22	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53454751C>T	ENST00000314250.6	+	20	3351	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	TENC1_ENST00000451358.1_Nonsense_Mutation_p.R1011*|TENC1_ENST00000549700.1_Nonsense_Mutation_p.R956*|TENC1_ENST00000546602.1_Nonsense_Mutation_p.R924*|TENC1_ENST00000314276.3_Nonsense_Mutation_p.R1031*|TENC1_ENST00000379902.3_Nonsense_Mutation_p.R897*|TENC1_ENST00000552570.1_Nonsense_Mutation_p.R1021*	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1021	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R1021*(1)|p.R1031*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAAGGCCCTCGAGGCCCCCC	0.687																																																	2	Substitution - Nonsense(2)	lung(2)											16	17	17					12																	53454751		2200	4293	6493	SO:0001587	stop_gained	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3061C>T	12.37:g.53454751C>T	ENSP00000319684:p.Arg1021*		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Nonsense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R1031*	ENST00000314250.6	37	c.3091	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	43	9.921826	0.99297	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	.	.	.	4.55	4.55	0.56014	.	0.709097	0.13060	N	0.416931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9789	13.0164	0.58759	0.0:1.0:0.0:0.0	.	.	.	.	X	897;1031;1021;1011;924;1021;956	.	ENSP00000319684:R1021X	R	+	1	2	TENC1	51741018	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	0.268000	0.18571	2.537000	0.85549	0.561000	0.74099	CGA	TENC1	-	NULL		0.687	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53454751	1	no_errors	ENST00000314276	ensembl	human	known	70_37	nonsense	SNP	0.788	T	T	53454751	C	T	53454751	4	4	153	1	0	0	0	0	0	1	0	0	15788	876	31	1	3248	1	TENC1	12	53454751	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	44441	53454751	80397144	829	26803										
SOAT2	8435	genome.wustl.edu	37	chr12	53514592	53514592	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcttcatgctgctgctcatCttctttgccttcctccattg	5	14	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53514592C>G	ENST00000301466.3	+	11	1122	c.1062C>G	c.(1060-1062)atC>atG	p.I354M		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	354					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TGCTGCTCATCTTCTTTGCCT	0.587																																																	0													183	142	156					12																	53514592		2203	4300	6503	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1062C>G	12.37:g.53514592C>G	ENSP00000301466:p.Ile354Met		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.I354M	ENST00000301466.3	37	c.1062	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312621	0.40895	.	.	ENSG00000167780	ENST00000301466	T	0.73575	-0.76	5.53	0.166	0.14999	.	0.325126	0.34777	N	0.003691	T	0.47021	0.1423	N	0.10809	0.05	0.33057	D	0.533618	B	0.26002	0.139	B	0.31290	0.127	T	0.29027	-1.0025	10	0.21540	T	0.41	-28.9448	1.6353	0.02740	0.121:0.3589:0.2709:0.2492	.	354	O75908	SOAT2_HUMAN	M	354	ENSP00000301466:I354M	ENSP00000301466:I354M	I	+	3	3	SOAT2	51800859	0.095000	0.21747	1.000000	0.80357	0.997000	0.91878	-0.465000	0.06680	0.360000	0.24265	0.561000	0.74099	ATC	SOAT2	-	pfam_MBOAT_fam		0.587	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	C			53514592	1	no_errors	ENST00000301466	ensembl	human	known	70_37	missense	SNP	0.992	G	G	53514592	C	G	53514592	3	3	153	1	0	0	0	0	1	0	0	0	14941	903	32	1	1104	1	SOAT2	12	53514592	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	59841	53514592	80337303	830	26804										
ITGB7	3695	genome.wustl.edu	37	chr12	53591317	53591318	+	Frame_Shift_Ins	INS	-	-	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcctgcagccggaccagcINSagagcgtgcccgagctggcg							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53591317_53591318insA	ENST00000267082.5	-	5	764_765	c.533_534insT	c.(532-534)ctgfs	p.L178fs	ITGB7_ENST00000422257.3_Frame_Shift_Ins_p.L178fs|ITGB7_ENST00000550743.2_Frame_Shift_Ins_p.L178fs|ITGB7_ENST00000338737.4_Frame_Shift_Ins_p.L178fs	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	178	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCGGACCAGCAGAGCGTGCCC	0.619																																																	0																																										SO:0001589	frameshift_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.534dupT	12.37:g.53591318_53591318dupA	ENSP00000267082:p.Leu178fs		Q9UCP7|Q9UCS7	Frame_Shift_Ins	INS	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L179fs	ENST00000267082.5	37	c.534_533	CCDS8849.1	12																																																																																			ITGB7	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.619	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	-			53591318	-1	no_errors	ENST00000267082	ensembl	human	known	70_37	frame_shift_ins	INS	0.993:0.995	A	A	53591318	-	A	53591317	7	5	153	1	0	1	1	0	0	0	0	0	7920	697	25	0	1910	0	ITGB7	12	53591317	Frame_Shift_Ins	INS	-	TCGA-IR-A3LK-01A-12D-A20U-09	76725	53591317	80260578	831	26805	158	2								
ITGB7	3695	genome.wustl.edu	37	chr12	53591319	53591319	+	Silent	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcctgcagccggaccagcaGagcgtgcccgagctggcgca							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53591319G>A	ENST00000267082.5	-	5	763	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	ITGB7_ENST00000422257.3_Silent_p.L178L|ITGB7_ENST00000550743.2_Silent_p.L178L|ITGB7_ENST00000338737.4_Silent_p.L178L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	178	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGACCAGCAGAGCGTGCCCG	0.617																																																	0													81	72	75					12																	53591319		2203	4300	6503	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.532C>T	12.37:g.53591319G>A			Q9UCP7|Q9UCS7	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L178	ENST00000267082.5	37	c.532	CCDS8849.1	12																																																																																			ITGB7	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.617	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	G			53591319	-1	no_errors	ENST00000267082	ensembl	human	known	70_37	silent	SNP	0.966	A	A	53591319	G	A	53591319	2	1	153	1	0	0	0	0	0	0	0	1	7920	933	33	1		1	ITGB7	12	53591319	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2	53591319	80260576	832	26806	158	2								
ESPL1	9700	genome.wustl.edu	37	chr12	53680114	53680114	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgaagccgctgagcgcctCacccaagctctccaagcttc	8	18	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53680114C>T	ENST00000257934.4	+	18	3685	c.3594C>T	c.(3592-3594)ctC>ctT	p.L1198L	ESPL1_ENST00000552462.1_Silent_p.L1198L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1198					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGAGCGCCTCACCCAAGCTC	0.592																																					Colon(53;1069 1201 2587 5382)												0													73	80	77					12																	53680114		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3594C>T	12.37:g.53680114C>T				Silent	SNP	pfam_Peptidase_C50	p.L1198	ENST00000257934.4	37	c.3594	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53680114	1	no_errors	ENST00000257934	ensembl	human	known	70_37	silent	SNP	0.019	T	T	53680114	C	T	53680114	2	4	153	1	0	0	0	0	0	0	0	1	5265	813	29	1		1	ESPL1	12	53680114	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	88795	53680114	80171781	833	26807										
AAAS	8086	genome.wustl.edu	37	chr12	53703052	53703052	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggggacacaggtctctgttGagacatcccatacctaggag	13	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53703052G>C	ENST00000209873.4	-	9	989	c.824C>G	c.(823-825)tCa>tGa	p.S275*	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Nonsense_Mutation_p.S242*|AAAS_ENST00000550286.1_Nonsense_Mutation_p.S151*	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	275					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGTCTCTGTTGAGACATCCCA	0.562																																																	0													64	63	63					12																	53703052		2203	4300	6503	SO:0001587	stop_gained	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.824C>G	12.37:g.53703052G>C	ENSP00000209873:p.Ser275*		Q5JB47|Q9NWI6|Q9UG19	Nonsense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S275*	ENST00000209873.4	37	c.824	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317127	0.81469	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	.	.	.	5.34	5.34	0.76211	.	0.185074	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-4.0876	16.9908	0.86353	0.0:0.0:1.0:0.0	.	.	.	.	X	275;242;151;242	.	ENSP00000209873:S275X	S	-	2	0	AAAS	51989319	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	8.653000	0.91088	2.696000	0.92011	0.558000	0.71614	TCA	AAAS	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.562	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	G			53703052	-1	no_errors	ENST00000209873	ensembl	human	known	70_37	nonsense	SNP	0.985	C	C	53703052	G	C	53703052	4	2	153	1	0	0	0	0	0	1	0	0	8	1294	45	1	848	1	AAAS	12	53703052	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	22938	53703052	80148843	834	26808										
SP1	6667	genome.wustl.edu	37	chr12	53803156	53803156	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcactttcaggggctcggggGatcctggcaaaaagaaacag	13	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53803156G>C	ENST00000327443.4	+	5	1953	c.1855G>C	c.(1855-1857)Gat>Cat	p.D619H	SP1_ENST00000426431.2_Missense_Mutation_p.D612H	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	619	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGGCTCGGGGGATCCTGGCAA	0.478																																																	0													54	45	48					12																	53803156		2203	4300	6503	SO:0001583	missense	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1855G>C	12.37:g.53803156G>C	ENSP00000329357:p.Asp619His		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D619H	ENST00000327443.4	37	c.1855	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866363	0.91511	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.09817	2.98;2.94	5.32	5.32	0.75619	.	0.097855	0.40908	D	0.000986	T	0.18718	0.0449	L	0.55481	1.735	0.80722	D	1	D	0.56521	0.976	P	0.48488	0.579	T	0.00233	-1.1894	10	0.35671	T	0.21	.	18.3142	0.90213	0.0:0.0:1.0:0.0	.	619	P08047	SP1_HUMAN	H	619;612	ENSP00000329357:D619H;ENSP00000404263:D612H	ENSP00000329357:D619H	D	+	1	0	SP1	52089423	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.256000	0.72473	2.941000	0.99782	0.655000	0.94253	GAT	SP1	-	NULL		0.478	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	G			53803156	1	no_errors	ENST00000327443	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53803156	G	C	53803156	3	2	153	1	0	0	0	0	1	0	0	0	14989	1174	41	1	1873	1	SP1	12	53803156	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	100104	53803156	80048739	835	26809										
HOXC11	3227	genome.wustl.edu	37	chr12	54367370	54367370	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accgtcaccgagatcctcatGaaaaacgaaggctcctacgg	9	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:54367370G>A	ENST00000546378.1	+	1	461	c.345G>A	c.(343-345)atG>atA	p.M115I	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.M115I|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	115					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AGATCCTCATGAAAAACGAAG	0.637			T	NUP98	AML																																			Dom	yes		12	12q13.3	3227	homeo box C11		L	0													96	116	109					12																	54367370		2203	4300	6503	SO:0001583	missense	3227				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.345G>A	12.37:g.54367370G>A	ENSP00000446680:p.Met115Ile		A8K7D1|Q96DH2	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.M115I	ENST00000546378.1	37	c.345	CCDS8867.1	12	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652452	0.67472	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.40476	1.03;1.03	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.036347	0.85682	D	0.000000	T	0.49167	0.1541	L	0.49778	1.585	0.58432	D	0.999998	B	0.26935	0.164	B	0.41412	0.356	T	0.55153	-0.8185	10	0.62326	D	0.03	.	16.0846	0.81031	0.0:0.0:1.0:0.0	.	115	O43248	HXC11_HUMAN	I	115	ENSP00000446680:M115I;ENSP00000243082:M115I	ENSP00000243082:M115I	M	+	3	0	HOXC11	52653637	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.077000	0.71275	2.386000	0.81285	0.555000	0.69702	ATG	HOXC11	-	pfam_DUF3528		0.637	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC11	HGNC	protein_coding	OTTHUMT00000358869.2	G			54367370	1	no_errors	ENST00000546378	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54367370	G	A	54367370	3	1	153	1	0	0	0	0	1	0	0	0	7330	1290	45	1	347	1	HOXC11	12	54367370	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	564214	54367370	79484525	836	26810										
OR6C74	254783	genome.wustl.edu	37	chr12	55641088	55641088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aactatgagaaaccatacaaCagtagcaaactttattcttc	4	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:55641088C>T	ENST00000343870.4	+	1	107	c.17C>T	c.(16-18)aCa>aTa	p.T6I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AACCATACAACAGTAGCAAAC	0.328																																																	0													132	128	129					12																	55641088		2202	4300	6502	SO:0001583	missense	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.17C>T	12.37:g.55641088C>T	ENSP00000342836:p.Thr6Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T6I	ENST00000343870.4	37	c.17	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	c	9.667	1.145694	0.21288	.	.	ENSG00000197706	ENST00000343870	T	0.19394	2.15	4.83	-2.25	0.06888	.	0.581915	0.15362	N	0.266345	T	0.10551	0.0258	L	0.28608	0.87	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.18524	-1.0334	10	0.36615	T	0.2	.	2.2804	0.04112	0.2209:0.3064:0.3264:0.1463	.	6	A6NCV1	O6C74_HUMAN	I	6	ENSP00000342836:T6I	ENSP00000342836:T6I	T	+	2	0	OR6C74	53927355	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-1.515000	0.02252	-0.195000	0.10382	0.551000	0.68910	ACA	OR6C74	-	NULL		0.328	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	C			55641088	1	no_errors	ENST00000343870	ensembl	human	known	70_37	missense	SNP	0.000	T	T	55641088	C	T	55641088	3	4	153	1	0	0	0	0	1	0	0	0	11222	478	17	4	19	4	OR6C74	12	55641088	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1273718	55641088	78210807	837	26811										
ITGA7	3679	genome.wustl.edu	37	chr12	56092581	56092581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcataacctcgggcaccaggCgactggcgctgtccttgcgc	13	15	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56092581C>T	ENST00000555728.1	-	7	1071	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	ITGA7_ENST00000347027.6_Missense_Mutation_p.R304H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R308H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R308H|ITGA7_ENST00000452168.2_Missense_Mutation_p.R211H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R304H|ITGA7_ENST00000257880.7_Missense_Mutation_p.R348H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R304H			Q13683	ITA7_HUMAN	integrin, alpha 7	348					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCACCAGGCGACTGGCGCT	0.622																																																	0													60	49	53					12																	56092581		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1043G>A	12.37:g.56092581C>T	ENSP00000452387:p.Arg348His		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R348H	ENST00000555728.1	37	c.1043		12	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363145	0.41902	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;1.46	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000003	T	0.63283	0.2498	N	0.16790	0.44	0.47659	D	0.999482	B;B;B;D	0.67145	0.046;0.061;0.076;0.996	B;B;B;P	0.60415	0.013;0.01;0.035;0.874	T	0.57289	-0.7837	10	0.11794	T	0.64	.	8.56	0.33505	0.0:0.8963:0.0:0.1037	.	211;348;308;367	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	308;304;304;211;348;308;304;348;348;146	ENSP00000452120:R308H;ENSP00000257879:R304H;ENSP00000343009:R304H;ENSP00000393844:R211H;ENSP00000257880:R348H;ENSP00000377777:R308H;ENSP00000377776:R304H;ENSP00000452387:R348H;ENSP00000450578:R146H	ENSP00000257879:R304H	R	-	2	0	ITGA7	54378848	0.735000	0.28153	1.000000	0.80357	0.968000	0.65278	1.083000	0.30815	2.489000	0.83994	0.491000	0.48974	CGC	ITGA7	-	smart_Int_alpha_beta-p		0.622	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	C	NM_002206		56092581	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56092581	C	T	56092581	3	4	153	1	0	0	0	0	1	0	0	0	7901	768	27	2	2582	2	ITGA7	12	56092581	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	451493	56092581	77759314	838	26812										
MMP19	4327	genome.wustl.edu	37	chr12	56231076	56231076	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgagggctggtttggcactCccgtaaacaaacccttgatt	10	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56231076C>G	ENST00000322569.4	-	9	1362	c.1271G>C	c.(1270-1272)gGa>gCa	p.G424A	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Missense_Mutation_p.G138A|MMP19_ENST00000548629.1_Missense_Mutation_p.G401A|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	424					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GTTTGGCACTCCCGTAAACAA	0.562																																																	0													104	110	108					12																	56231076		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1271G>C	12.37:g.56231076C>G	ENSP00000313437:p.Gly424Ala		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G424A	ENST00000322569.4	37	c.1271	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	c	18.42	3.620807	0.66787	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.04194	3.68;3.68;3.68	5.84	5.84	0.93424	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.963;1.0	T	0.50583	-0.8811	10	0.87932	D	0	.	17.6423	0.88140	0.0:1.0:0.0:0.0	.	424;138	Q99542;Q99542-3	MMP19_HUMAN;.	A	138;424;401	ENSP00000377736:G138A;ENSP00000313437:G424A;ENSP00000446979:G401A	ENSP00000313437:G424A	G	-	2	0	MMP19	54517343	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.186000	0.77722	2.769000	0.95229	0.651000	0.88453	GGA	MMP19	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.562	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	C	NM_002429		56231076	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56231076	C	G	56231076	3	3	153	1	0	0	0	0	1	0	0	0	9680	855	30	1	259	1	MMP19	12	56231076	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	138495	56231076	77620819	839	26813										
DGKA	1606	genome.wustl.edu	37	chr12	56332976	56332976	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactctgtgctcagattcttCaggagatgatgaaagagatt	10	7	4	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56332976C>G	ENST00000331886.5	+	8	935	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	DGKA_ENST00000394147.1_Missense_Mutation_p.Q161E|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.Q161E	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	161	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCAGATTCTTCAGGAGATGAT	0.542																																																	0													108	100	103					12																	56332976		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.481C>G	12.37:g.56332976C>G	ENSP00000328405:p.Gln161Glu		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.Q161E	ENST00000331886.5	37	c.481	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	C	4.760	0.141262	0.09083	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	T;T;T;T	0.64618	1.69;-0.11;1.69;1.69	5.03	5.03	0.67393	EF-hand-like domain (1);	0.110396	0.64402	D	0.000009	T	0.45397	0.1340	N	0.17474	0.49	0.42120	D	0.991421	B;B;B;B	0.22909	0.077;0.001;0.025;0.002	B;B;B;B	0.24848	0.056;0.01;0.017;0.009	T	0.34428	-0.9829	10	0.21540	T	0.41	.	13.4039	0.60900	0.0:0.8417:0.1583:0.0	.	161;80;161;161	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	E	161;80;161;161	ENSP00000328405:Q161E;ENSP00000451743:Q80E;ENSP00000377703:Q161E;ENSP00000450359:Q161E	ENSP00000328405:Q161E	Q	+	1	0	DGKA	54619243	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	1.338000	0.33873	2.791000	0.96007	0.591000	0.81541	CAG	DGKA	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.542	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	C			56332976	1	no_errors	ENST00000331886	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56332976	C	G	56332976	3	3	153	1	0	0	0	0	1	0	0	0	4475	827	29	1	507	1	DGKA	12	56332976	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	101900	56332976	77518919	840	26814										
SUOX	6821	genome.wustl.edu	37	chr12	56398056	56398056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagcactgcacgctgggctGgggcacggctctgtgatgtg	16	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56398056G>A	ENST00000394109.3	+	3	1607	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	SUOX_ENST00000266971.3_Missense_Mutation_p.G295R|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.G295R|SUOX_ENST00000356124.4_Missense_Mutation_p.G295R|SUOX_ENST00000394115.2_Missense_Mutation_p.G295R			P51687	SUOX_HUMAN	sulfite oxidase	295	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACGCTGGGCTGGGGCACGGCT	0.582																																																	0													55	53	54					12																	56398056		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.883G>A	12.37:g.56398056G>A	ENSP00000377668:p.Gly295Arg			Missense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.G295R	ENST00000394109.3	37	c.883	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546064	0.65198	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19	5.11	5.11	0.69529	Oxidoreductase, molybdopterin-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96146	0.9104	10	0.87932	D	0	-0.4	17.8518	0.88748	0.0:0.0:1.0:0.0	.	295	P51687	SUOX_HUMAN	R	295	ENSP00000348440:G295R;ENSP00000266971:G295R;ENSP00000377674:G295R;ENSP00000450245:G295R;ENSP00000377668:G295R	ENSP00000266971:G295R	G	+	1	0	SUOX	54684323	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	8.924000	0.92827	2.832000	0.97577	0.585000	0.79938	GGG	SUOX	-	pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk		0.582	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	G	NM_000456		56398056	1	no_errors	ENST00000266971	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56398056	G	A	56398056	3	1	153	1	0	0	0	0	1	0	0	0	15425	1348	47	4	893	4	SUOX	12	56398056	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	65080	56398056	77453839	841	26815										
SUOX	6821	genome.wustl.edu	37	chr12	56398437	56398437	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actctgctccatccattcagGaacttcctgtccagtcggcc	7	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56398437G>T	ENST00000394109.3	+	3	1988	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	SUOX_ENST00000266971.3_Nonsense_Mutation_p.E422*|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000548274.1_Nonsense_Mutation_p.E422*|SUOX_ENST00000356124.4_Nonsense_Mutation_p.E422*|SUOX_ENST00000394115.2_Nonsense_Mutation_p.E422*			P51687	SUOX_HUMAN	sulfite oxidase	422	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ATCCATTCAGGAACTTCCTGT	0.542																																																	0													99	103	102					12																	56398437		2203	4300	6503	SO:0001587	stop_gained	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1264G>T	12.37:g.56398437G>T	ENSP00000377668:p.Glu422*			Nonsense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.E422*	ENST00000394109.3	37	c.1264	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	37	6.319911	0.97471	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	.	.	.	4.96	4.96	0.65561	.	0.057225	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.429	17.5144	0.87769	0.0:0.0:1.0:0.0	.	.	.	.	X	422	.	ENSP00000266971:E422X	E	+	1	0	SUOX	54684704	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.741000	0.91583	2.752000	0.94435	0.467000	0.42956	GAA	SUOX	-	pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk		0.542	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	G	NM_000456		56398437	1	no_errors	ENST00000266971	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	56398437	G	T	56398437	4	4	153	1	0	0	0	0	0	1	0	0	15425	1175	41	3	1274	3	SUOX	12	56398437	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	381	56398437	77453458	842	26816										
PA2G4	5036	genome.wustl.edu	37	chr12	56503680	56503680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaagcagcatgtcatcgatgGagaaaaaaccattatccaga	9	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56503680G>C	ENST00000303305.6	+	7	1009	c.590G>C	c.(589-591)gGa>gCa	p.G197A	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.G197A	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	197					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GTCATCGATGGAGAAAAAACC	0.428																																																	0													118	109	112					12																	56503680		2203	4300	6503	SO:0001583	missense	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.590G>C	12.37:g.56503680G>C	ENSP00000302886:p.Gly197Ala		O43846|Q9UM59	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.G197A	ENST00000303305.6	37	c.590	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.161650	0.94727	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T	0.77098	-1.07;-1.07	5.55	5.55	0.83447	Peptidase M24, structural domain (3);	0.044774	0.85682	N	0.000000	D	0.83403	0.5247	L	0.47078	1.49	0.80722	D	1	B;P;P	0.42692	0.232;0.747;0.787	B;P;P	0.58013	0.047;0.62;0.831	T	0.79678	-0.1703	10	0.31617	T	0.26	.	18.6313	0.91360	0.0:0.0:1.0:0.0	.	197;197;197	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	A	197;197;226;197;197;186	ENSP00000302886:G197A;ENSP00000448557:G197A	ENSP00000302886:G197A	G	+	2	0	PA2G4	54789947	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.709000	0.98729	2.773000	0.95371	0.650000	0.86243	GGA	PA2G4	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.428	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	G	NM_006191		56503680	1	no_errors	ENST00000303305	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56503680	G	C	56503680	3	2	153	1	0	0	0	0	1	0	0	0	11385	1174	41	1	616	1	PA2G4	12	56503680	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	105243	56503680	77348215	843	26817										
PA2G4	5036	genome.wustl.edu	37	chr12	56504386	56504386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactatttacaaacgagaccCctctaaacagtatggactga	6	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56504386C>T	ENST00000303305.6	+	9	1171	c.752C>T	c.(751-753)cCc>cTc	p.P251L	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.P251L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	251					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAACGAGACCCCTCTAAACAG	0.433																																																	0													93	81	85					12																	56504386		2203	4300	6503	SO:0001583	missense	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.752C>T	12.37:g.56504386C>T	ENSP00000302886:p.Pro251Leu		O43846|Q9UM59	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.P251L	ENST00000303305.6	37	c.752	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443431	0.63067	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	.	.	.	5.11	5.11	0.69529	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.35414	1.06	0.80722	D	1	P;B;B	0.43885	0.82;0.001;0.001	B;B;B	0.33339	0.162;0.002;0.006	T	0.25433	-1.0132	9	0.15066	T	0.55	.	17.668	0.88208	0.0:1.0:0.0:0.0	.	251;251;251	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	L	251;251;280;251;251	.	ENSP00000302886:P251L	P	+	2	0	PA2G4	54790653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.650000	0.83521	2.552000	0.86080	0.655000	0.94253	CCC	PA2G4	-	superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	C	NM_006191		56504386	1	no_errors	ENST00000303305	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56504386	C	T	56504386	3	4	153	1	0	0	0	0	1	0	0	0	11385	623	22	4	786	4	PA2G4	12	56504386	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	706	56504386	77347509	844	26818										
MYL6B	140465	genome.wustl.edu	37	chr12	56549364	56549364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcagagctcagacatgttCtcaccacccttggtgaggca	11	12	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56549364C>G	ENST00000553066.1	+	5	930	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	MYL6_ENST00000551589.1_5'Flank|MYL6_ENST00000549566.1_5'Flank|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000550697.1_5'Flank|MYL6_ENST00000549017.1_5'Flank|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000552568.1_Intron|MYL6_ENST00000548293.1_5'Flank|MYL6_ENST00000536128.1_5'Flank|MYL6_ENST00000547408.1_5'Flank|MYL6_ENST00000547649.1_5'Flank|MYL6B_ENST00000207437.5_Missense_Mutation_p.L170V|MYL6B_ENST00000550443.1_Missense_Mutation_p.L170V|MYL6_ENST00000548400.1_5'Flank|MYL6_ENST00000293422.5_5'Flank|MYL6_ENST00000548580.1_5'Flank|MYL6_ENST00000348108.4_5'Flank			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	170	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CAGACATGTTCTCACCACCCT	0.557																																																	0													123	108	113					12																	56549364		2203	4300	6503	SO:0001583	missense	140465			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"Myosins / Light chain", "EF-hand domain containing"	29823	protein-coding gene	gene with protein product	"myosin light chain 1 slow a"	609930	"myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.508C>G	12.37:g.56549364C>G	ENSP00000450385:p.Leu170Val			Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L170V	ENST00000553066.1	37	c.508	CCDS8905.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960457	0.74016	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437	D;D;D	0.91068	-2.78;-2.78;-2.78	4.85	4.85	0.62838	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.91635	0.966;0.999	D	0.97143	0.9826	10	0.87932	D	0	-23.6755	17.2811	0.87128	0.0:1.0:0.0:0.0	.	170;170	B4E368;P14649	.;MYL6B_HUMAN	V	170	ENSP00000450385:L170V;ENSP00000446643:L170V;ENSP00000207437:L170V	ENSP00000207437:L170V	L	+	1	0	MYL6B	54835631	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.636000	0.67848	2.710000	0.92621	0.491000	0.48974	CTC	MYL6B	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.557	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYL6B	HGNC	protein_coding	OTTHUMT00000407920.2	C	NM_002475		56549364	1	no_errors	ENST00000207437	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56549364	C	G	56549364	3	3	153	1	0	0	0	0	1	0	0	0	10075	913	32	1	522	1	MYL6B	12	56549364	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	44978	56549364	77302531	845	26819										
RNF41	10193	genome.wustl.edu	37	chr12	56600311	56600311	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcccccatgtgctggttctCacaggccatcacgacaacag	8	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56600311C>T	ENST00000345093.4	-	7	1243	c.874G>A	c.(874-876)Gag>Aag	p.E292K	RNF41_ENST00000394013.2_Missense_Mutation_p.E221K|RNF41_ENST00000552656.1_Missense_Mutation_p.E292K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	292					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TGCTGGTTCTCACAGGCCATC	0.527											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													209	173	185					12																	56600311		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.874G>A	12.37:g.56600311C>T	ENSP00000342755:p.Glu292Lys	1016	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E292K	ENST00000345093.4	37	c.874	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.599477	0.96614	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.10573	2.86;2.86	5.21	5.21	0.72293	USP8 interacting (1);	0.173195	0.53938	D	0.000057	T	0.26011	0.0634	L	0.47716	1.5	0.80722	D	1	D;D	0.63880	0.993;0.983	P;P	0.61874	0.891;0.895	T	0.00324	-1.1817	10	0.87932	D	0	-14.8601	17.9232	0.88973	0.0:1.0:0.0:0.0	.	279;292	B4E353;Q9H4P4	.;RNF41_HUMAN	K	292;221;279;292	ENSP00000342755:E292K;ENSP00000447303:E292K	ENSP00000342755:E292K	E	-	1	0	RNF41	54886578	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.759000	0.85235	2.606000	0.88127	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting		0.527	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56600311	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56600311	C	T	56600311	3	4	153	1	0	0	0	0	1	0	0	0	13524	835	29	1	83	1	RNF41	12	56600311	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	50947	56600311	77251584	846	26820										
TIMELESS	8914	genome.wustl.edu	37	chr12	56817142	56817142	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaagtagggcttccattttGaggtcatgggccagccggtg	14	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56817142G>C	ENST00000553532.1	-	18	2358	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L	TIMELESS_ENST00000229201.4_Silent_p.L735L|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTCCATTTTGAGGTCATGGG	0.507																																																	0													148	136	140					12																	56817142		2203	4300	6503	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2208C>G	12.37:g.56817142G>C				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.L736	ENST00000553532.1	37	c.2208	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_TIMELESS_C		0.507	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56817142	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	silent	SNP	1.000	C	C	56817142	G	C	56817142	2	2	153	1	0	0	0	0	0	0	0	1	15934	1277	45	1		1	TIMELESS	12	56817142	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	216831	56817142	77034753	847	26821										
NACA	4666	genome.wustl.edu	37	chr12	57114446	57114446	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttgggacccgcagtcttttGagaagaggtcaccacaggaa	13	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57114446G>C	ENST00000454682.1	-	3	1149	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.Q290E|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	290	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGTCTTTTGAGAAGAGGTC	0.498			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													68	66	67					12																	57114446		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.868C>G	12.37:g.57114446G>C	ENSP00000403817:p.Gln290Glu			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.Q290E	ENST00000454682.1	37	c.868		12	.	.	.	.	.	.	.	.	.	.	g	11.82	1.751817	0.31046	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.56103	0.48;0.84	2.96	1.91	0.25777	.	.	.	.	.	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	P;B	0.36222	0.544;0.334	B;B	0.23716	0.048;0.029	T	0.11743	-1.0575	9	0.72032	D	0.01	.	6.5442	0.22397	0.0:0.0:0.7136:0.2864	.	290;290	E9PAV3;F8VU71	.;.	E	290	ENSP00000403817:Q290E;ENSP00000448035:Q290E	ENSP00000403817:Q290E	Q	-	1	0	NACA	55400713	0.152000	0.22762	0.171000	0.22900	0.270000	0.26580	1.270000	0.33086	1.375000	0.46248	0.282000	0.19409	CAA	NACA	-	NULL		0.498	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		G	NM_005594		57114446	-1	no_errors	ENST00000454682	ensembl	human	known	70_37	missense	SNP	0.109	C	C	57114446	G	C	57114446	3	2	153	1	0	0	0	0	1	0	0	0	10156	1299	45	1	5396	1	NACA	12	57114446	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	297304	57114446	76737449	848	26822										
PRIM1	5557	genome.wustl.edu	37	chr12	57127958	57127958	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttaagaagttctccttttcGggatttatccagattttcaa	6	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57127958G>A	ENST00000338193.6	-	12	1252	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	406					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TCTCCTTTTCGGGATTTATCC	0.308																																																	0													87	86	86					12																	57127958		1810	4070	5880	SO:0001587	stop_gained	5557			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1216C>T	12.37:g.57127958G>A	ENSP00000350491:p.Arg406*			Nonsense_Mutation	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.R406*	ENST00000338193.6	37	c.1216	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553122	0.45487	.	.	ENSG00000198056	ENST00000537418;ENST00000338193	.	.	.	5.4	3.39	0.38822	.	0.298810	0.31554	N	0.007453	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.7572	12.3965	0.55389	0.0:0.0:0.5857:0.4142	.	.	.	.	X	413;406	.	ENSP00000350491:R406X	R	-	1	2	PRIM1	55414225	0.585000	0.26774	0.926000	0.36857	0.223000	0.24884	0.790000	0.26900	1.359000	0.45940	0.585000	0.79938	CGA	PRIM1	-	NULL		0.308	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	G	NM_000946		57127958	-1	no_errors	ENST00000338193	ensembl	human	known	70_37	nonsense	SNP	0.494	A	A	57127958	G	A	57127958	4	1	153	1	0	0	0	0	0	1	0	0	12517	1124	39	2	54	2	PRIM1	12	57127958	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	13512	57127958	76723937	849	26823										
HSD17B6	8630	genome.wustl.edu	37	chr12	57178733	57178733	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acacagtccttagagcgaatGaagcaaagttggaaagaagc	11	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57178733G>C	ENST00000554643.1	+	5	1018	c.669G>C	c.(667-669)atG>atC	p.M223I	HSD17B6_ENST00000555159.1_Missense_Mutation_p.M223I|HSD17B6_ENST00000322165.1_Missense_Mutation_p.M223I|HSD17B6_ENST00000555805.1_Missense_Mutation_p.M223I|HSD17B6_ENST00000554150.1_Missense_Mutation_p.M223I			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	223					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TAGAGCGAATGAAGCAAAGTT	0.428																																																	0													189	182	185					12																	57178733		2203	4300	6503	SO:0001583	missense	8630			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.669G>C	12.37:g.57178733G>C	ENSP00000451406:p.Met223Ile		O43275	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.M223I	ENST00000554643.1	37	c.669	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	g	8.267	0.812399	0.16537	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	4.21	-4.18	0.03846	NAD(P)-binding domain (1);	1.614330	0.04080	N	0.309532	T	0.69886	0.3161	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55341	-0.8156	10	0.22706	T	0.39	.	1.1933	0.01869	0.3079:0.1099:0.359:0.2231	.	223	O14756	H17B6_HUMAN	I	223	ENSP00000450698:M223I;ENSP00000451753:M223I;ENSP00000451406:M223I;ENSP00000452273:M223I;ENSP00000318631:M223I	ENSP00000318631:M223I	M	+	3	0	HSD17B6	55465000	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.542000	0.06091	-0.475000	0.06852	0.651000	0.88453	ATG	HSD17B6	-	NULL		0.428	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	HGNC	protein_coding	OTTHUMT00000410714.1	G	NM_003725		57178733	1	no_errors	ENST00000322165	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57178733	G	C	57178733	3	2	153	1	0	0	0	0	1	0	0	0	7407	1290	45	1	679	1	HSD17B6	12	57178733	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	50775	57178733	76673162	850	26824										
GLI1	2735	genome.wustl.edu	37	chr12	57861878	57861878	+	Frame_Shift_Del	DEL	G	G	-													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catggtcctgacgcccatgtGaccaaacggcaccgtgggga							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57861878delG	ENST00000228682.2	+	10	1270	c.1179delG	c.(1177-1179)gtgfs	p.V393fs	GLI1_ENST00000543426.1_Frame_Shift_Del_p.V265fs|GLI1_ENST00000546141.1_Frame_Shift_Del_p.V352fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	393					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACGCCCATGTGACCAAACGGC	0.577																																					Pancreas(157;841 1936 10503 41495 50368)												0													87	68	75					12																	57861878		2203	4300	6503	SO:0001589	frameshift_variant	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1179delG	12.37:g.57861878delG	ENSP00000228682:p.Val393fs		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T394fs	ENST00000228682.2	37	c.1179	CCDS8940.1	12																																																																																			GLI1	-	NULL		0.577	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	G	NM_005269		57861878	1	no_errors	ENST00000228682	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	57861878	G	-	57861878	7	5	153	1	0	1	0	1	0	0	0	0	6456	1277	45	0	1213	0	GLI1	12	57861878	Frame_Shift_Del	DEL	G	TCGA-IR-A3LK-01A-12D-A20U-09	683145	57861878	75990017	851	26825										
SRGAP1	57522	genome.wustl.edu	37	chr12	64505618	64505618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttggcccaacattgatgcctGtcccagaaatacaggatcaa	8	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:64505618G>A	ENST00000355086.3	+	17	2520	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.V643I|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.V603I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	666	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTGATGCCTGTCCCAGAAAT	0.418																																																	0													133	118	123					12																	64505618		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1996G>A	12.37:g.64505618G>A	ENSP00000347198:p.Val666Ile		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V666I	ENST00000355086.3	37	c.1996	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057955	0.36277	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.17854	2.25;2.25;2.25	5.05	4.16	0.48862	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.31784	U	0.007067	T	0.10078	0.0247	N	0.10874	0.06	0.42195	D	0.991749	B;B	0.19073	0.033;0.002	B;B	0.26416	0.069;0.006	T	0.16512	-1.0400	9	.	.	.	.	13.4289	0.61042	0.0755:0.0:0.9245:0.0	.	666;603	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	666;643;603	ENSP00000347198:V666I;ENSP00000350480:V643I;ENSP00000437948:V603I	.	V	+	1	0	SRGAP1	62791885	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	3.781000	0.55394	1.274000	0.44362	0.555000	0.69702	GTC	SRGAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64505618	1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	0.997	A	A	64505618	G	A	64505618	3	1	153	1	0	0	0	0	1	0	0	0	15175	1377	48	4	2062	4	SRGAP1	12	64505618	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6643740	64505618	69346277	852	26826										
TMBIM4	51643	genome.wustl.edu	37	chr12	66547223	66547223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatgctgtagacttttctcaGaaaggctaaaagagaaaaaa	8	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66547223G>C	ENST00000358230.3	-	2	223	c.103C>G	c.(103-105)Ctg>Gtg	p.L35V	TMBIM4_ENST00000286424.7_Missense_Mutation_p.L82V|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L35V|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L35V|TMBIM4_ENST00000542724.1_Intron|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L35V	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	35					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACTTTTCTCAGAAAGGCTAAA	0.294																																																	0													59	55	57					12																	66547223		1800	4052	5852	SO:0001583	missense	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.103C>G	12.37:g.66547223G>C	ENSP00000350965:p.Leu35Val		Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.L35V	ENST00000358230.3	37	c.103	CCDS41805.1	12	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157407	0.57259	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.62146	0.2404	L	0.46741	1.465	0.58432	D	0.999997	D;P;D;D	0.76494	0.999;0.815;0.999;0.989	D;B;D;P	0.68353	0.957;0.421;0.957;0.901	T	0.58239	-0.7671	9	.	.	.	-6.4258	18.0838	0.89451	0.0:0.0:1.0:0.0	.	35;82;35;35	E7EWY5;G3XAA5;E7EQ00;Q9HC24	.;.;.;TMBI4_HUMAN	V	35;35;35;82;35;35;81	ENSP00000451688:L35V;ENSP00000350965:L35V;ENSP00000286424:L82V;ENSP00000381114:L35V	.	L	-	1	2	TMBIM4	64833490	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.854000	0.55949	2.548000	0.85928	0.655000	0.94253	CTG	TMBIM4	-	pfam_Bax_inhibitor_1-related		0.294	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	G	NM_016056		66547223	-1	no_errors	ENST00000358230	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66547223	G	C	66547223	3	2	153	1	0	0	0	0	1	0	0	0	16012	933	33	1	637	1	TMBIM4	12	66547223	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2041605	66547223	67304672	853	26827										
HELB	92797	genome.wustl.edu	37	chr12	66717770	66717770	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttctatcccagagaccatCagagtagacttgtttttgga	8	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66717770C>G	ENST00000247815.4	+	10	2364	c.2305C>G	c.(2305-2307)Cag>Gag	p.Q769E		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	769					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CAGAGACCATCAGAGTAGACT	0.343																																																	0													110	123	119					12																	66717770		2203	4300	6503	SO:0001583	missense	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2305C>G	12.37:g.66717770C>G	ENSP00000247815:p.Gln769Glu		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.Q769E	ENST00000247815.4	37	c.2305	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133549	0.21041	.	.	ENSG00000127311	ENST00000247815	T	0.11063	2.81	5.2	1.11	0.20524	.	0.422884	0.21541	N	0.072891	T	0.07143	0.0181	L	0.31294	0.92	0.22280	N	0.999232	B	0.10296	0.003	B	0.06405	0.002	T	0.37314	-0.9711	9	.	.	.	-1.1501	9.0343	0.36277	0.621:0.2717:0.1074:0.0	.	769	Q8NG08	HELB_HUMAN	E	769	ENSP00000247815:Q769E	.	Q	+	1	0	HELB	65004037	1.000000	0.71417	0.932000	0.37286	0.443000	0.32047	1.488000	0.35551	0.417000	0.25871	0.655000	0.94253	CAG	HELB	-	NULL		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	C			66717770	1	no_errors	ENST00000247815	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66717770	C	G	66717770	3	3	153	1	0	0	0	0	1	0	0	0	7065	827	29	1	2343	1	HELB	12	66717770	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	170547	66717770	67134125	854	26828										
HELB	92797	genome.wustl.edu	37	chr12	66731855	66731855	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttaattcccaggcaacttttCaagcccaccgataatcaaga	5	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66731855C>G	ENST00000247815.4	+	13	3296	c.3237C>G	c.(3235-3237)ttC>ttG	p.F1079L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1079					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCAACTTTTCAAGCCCACCG	0.343																																																	0													68	71	70					12																	66731855		2203	4300	6503	SO:0001583	missense	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3237C>G	12.37:g.66731855C>G	ENSP00000247815:p.Phe1079Leu		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.F1079L	ENST00000247815.4	37	c.3237	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794724	0.50102	.	.	ENSG00000127311	ENST00000247815	T	0.17054	2.3	5.5	0.504	0.16946	.	0.000000	0.64402	D	0.000001	T	0.14787	0.0357	M	0.62723	1.935	0.36843	D	0.887516	B	0.25390	0.125	B	0.24848	0.056	T	0.10200	-1.0640	9	.	.	.	-21.4179	6.0111	0.19575	0.1171:0.5618:0.0:0.3211	.	1079	Q8NG08	HELB_HUMAN	L	1079	ENSP00000247815:F1079L	.	F	+	3	2	HELB	65018122	0.204000	0.23447	0.490000	0.27465	0.338000	0.28826	-0.033000	0.12246	-0.191000	0.10448	-0.122000	0.15005	TTC	HELB	-	NULL		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	C			66731855	1	no_errors	ENST00000247815	ensembl	human	known	70_37	missense	SNP	0.985	G	G	66731855	C	G	66731855	3	3	153	1	0	0	0	0	1	0	0	0	7065	825	29	1	3287	1	HELB	12	66731855	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	14085	66731855	67120040	855	26829										
GRIP1	23426	genome.wustl.edu	37	chr12	66770815	66770815	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accaagagagtcatgtttctCaaagacacacgcctgtcagc	8	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66770815C>G	ENST00000398016.3	-	21	2672	c.2604G>C	c.(2602-2604)ttG>ttC	p.L868F	GRIP1_ENST00000359742.4_Missense_Mutation_p.L920F|GRIP1_ENST00000286445.7_Intron	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATGTTTCTCAAAGACACAC	0.393																																																	0													124	124	124					12																	66770815		1863	4096	5959	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2604G>C	12.37:g.66770815C>G	ENSP00000381098:p.Leu868Phe		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L920F	ENST00000398016.3	37	c.2760	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721822	0.30503	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000540433	T;T;T	0.78003	-1.14;-1.14;-1.14	5.71	5.71	0.89125	.	0.201340	0.33670	N	0.004669	T	0.67515	0.2901	L	0.29908	0.895	0.80722	D	1	P	0.36837	0.571	B	0.35607	0.206	T	0.65709	-0.6102	9	.	.	.	-4.5122	15.3567	0.74431	0.0:0.8611:0.1389:0.0	.	868	Q9Y3R0-3	.	F	868;920;812	ENSP00000381098:L868F;ENSP00000352780:L920F;ENSP00000446024:L812F	.	L	-	3	2	GRIP1	65057082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.511000	0.60462	2.699000	0.92147	0.655000	0.94253	TTG	GRIP1	-	NULL		0.393	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66770815	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66770815	C	G	66770815	3	3	153	1	0	0	0	0	1	0	0	0	6807	825	29	1	642	1	GRIP1	12	66770815	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	38960	66770815	67081080	856	26830										
GRIP1	23426	genome.wustl.edu	37	chr12	66788034	66788034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttgaaatgattataggatCaaacggctcttcagttcctg	9	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66788034C>T	ENST00000398016.3	-	16	1995	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D695N|GRIP1_ENST00000286445.7_Missense_Mutation_p.D695N|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTATAGGATCAAACGGCTCT	0.443																																																	0													129	125	126					12																	66788034		1825	4083	5908	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1927G>A	12.37:g.66788034C>T	ENSP00000381098:p.Asp643Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D695N	ENST00000398016.3	37	c.2083	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003848	0.93287	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	4.2	4.2	0.49525	PDZ/DHR/GLGF (4);	0.190459	0.53938	D	0.000051	T	0.29749	0.0743	L	0.28192	0.835	0.80722	D	1	P;P;P;P	0.42409	0.511;0.537;0.659;0.779	B;P;P;P	0.50659	0.187;0.464;0.477;0.647	T	0.02173	-1.1201	9	.	.	.	-17.6515	17.8456	0.88729	0.0:1.0:0.0:0.0	.	643;695;643;695	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	N	643;695;695;643;587;535	ENSP00000381098:D643N;ENSP00000352780:D695N;ENSP00000286445:D695N;ENSP00000446047:D643N;ENSP00000446024:D587N;ENSP00000446011:D535N	.	D	-	1	0	GRIP1	65074301	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.644000	0.89710	0.655000	0.94253	GAT	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66788034	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66788034	C	T	66788034	3	4	153	1	0	0	0	0	1	0	0	0	6807	826	29	1	1339	1	GRIP1	12	66788034	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	17219	66788034	67063861	857	26831			3	115		3	3	97	C		9.688617e-06
GRIP1	23426	genome.wustl.edu	37	chr12	66788046	66788046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tataggatcaaacggctcttCagttcctgaaattgtgatgc	9	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66788046C>G	ENST00000398016.3	-	16	1983	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.E691Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.E691Q|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AACGGCTCTTCAGTTCCTGAA	0.423																																																	0													123	118	120					12																	66788046		1820	4085	5905	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1915G>C	12.37:g.66788046C>G	ENSP00000381098:p.Glu639Gln		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E691Q	ENST00000398016.3	37	c.2071	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900357	0.92035	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	4.2	4.2	0.49525	PDZ/DHR/GLGF (4);	0.046710	0.85682	D	0.000000	T	0.46678	0.1405	L	0.55103	1.725	0.80722	D	1	D;P;D;D	0.89917	0.998;0.886;1.0;1.0	D;P;D;D	0.91635	0.963;0.806;0.996;0.999	T	0.32268	-0.9913	9	.	.	.	-26.8676	17.8456	0.88729	0.0:1.0:0.0:0.0	.	639;691;639;691	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	Q	639;691;691;639;583;531	ENSP00000381098:E639Q;ENSP00000352780:E691Q;ENSP00000286445:E691Q;ENSP00000446047:E639Q;ENSP00000446024:E583Q;ENSP00000446011:E531Q	.	E	-	1	0	GRIP1	65074313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.644000	0.89710	0.655000	0.94253	GAA	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.423	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66788046	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66788046	C	G	66788046	3	3	153	1	0	0	0	0	1	0	0	0	6807	835	29	1	1351	1	GRIP1	12	66788046	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12	66788046	67063849	858	26832			3	115		3	3	97	C		9.688617e-06
GRIP1	23426	genome.wustl.edu	37	chr12	66788130	66788130	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgctccggaactttcttgctCatctgtaataaatgccaagg	8	10	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66788130C>G	ENST00000398016.3	-	16	1899	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.E663Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.E663Q|GRIP1_ENST00000542021.1_5'UTR	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTTCTTGCTCATCTGTAATA	0.398																																																	0													52	48	49					12																	66788130		1817	4084	5901	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1831G>C	12.37:g.66788130C>G	ENSP00000381098:p.Glu611Gln		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E663Q	ENST00000398016.3	37	c.1987	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.934699|4.934699	0.92458|0.92458	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.24350|.	1.86;1.87;1.87;1.86;1.94;1.98|.	4.2|4.2	4.2|4.2	0.49525|0.49525	PDZ/DHR/GLGF (1);|.	0.151821|.	0.56097|.	D|.	0.000021|.	T|T	0.73590|0.73590	0.3606|0.3606	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.47484|.	0.853;0.69;0.896;0.696|.	P;B;P;P|.	0.51135|.	0.458;0.359;0.66;0.541|.	T|T	0.73202|0.73202	-0.4057|-0.4057	9|5	.|.	.|.	.|.	-27.0111|-27.0111	17.8456|17.8456	0.88729|0.88729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	611;663;611;663|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	Q|I	611;663;663;611;555;503|477	ENSP00000381098:E611Q;ENSP00000352780:E663Q;ENSP00000286445:E663Q;ENSP00000446047:E611Q;ENSP00000446024:E555Q;ENSP00000446011:E503Q|.	.|.	E|M	-|-	1|3	0|0	GRIP1|GRIP1	65074397|65074397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.609000|7.609000	0.82925|0.82925	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GAG|ATG	GRIP1	-	superfamily_PDZ		0.398	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66788130	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66788130	C	G	66788130	3	3	153	1	0	0	0	0	1	0	0	0	6807	835	29	1	1435	1	GRIP1	12	66788130	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	84	66788130	67063765	859	26833			3	115		3	3	97	C		9.688617e-06
MDM1	56890	genome.wustl.edu	37	chr12	68716864	68716864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgaataccttcctttcagGagacactgtttcaagatttc	7	9	2	3	rs200011845		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:68716864G>A	ENST00000303145.7	-	5	876	c.790C>T	c.(790-792)Cct>Tct	p.P264S	MDM1_ENST00000411698.2_Missense_Mutation_p.P219S|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	264					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCTTTCAGGAGACACTGTT	0.333																																																	0													147	142	144					12																	68716864		2202	4300	6502	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.790C>T	12.37:g.68716864G>A	ENSP00000302537:p.Pro264Ser		B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.P264S	ENST00000303145.7	37	c.790	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197132	0.22037	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.20738	2.05;2.05;2.05	4.48	2.62	0.31277	.	0.424990	0.21756	N	0.069591	T	0.17959	0.0431	L	0.59436	1.845	0.80722	D	1	P;B	0.36990	0.577;0.314	B;B	0.34652	0.187;0.068	T	0.03221	-1.1059	9	.	.	.	-8.7462	7.2723	0.26264	0.276:0.0:0.724:0.0	.	219;264	E7EPQ3;Q8TC05	.;MDM1_HUMAN	S	264;219;259	ENSP00000302537:P264S;ENSP00000391006:P219S;ENSP00000446000:P259S	.	P	-	1	0	MDM1	67003131	1.000000	0.71417	0.983000	0.44433	0.216000	0.24613	1.503000	0.35715	1.200000	0.43188	0.591000	0.81541	CCT	MDM1	-	NULL		0.333	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	G	NM_020128		68716864	-1	no_errors	ENST00000303145	ensembl	human	known	70_37	missense	SNP	0.993	A	A	68716864	G	A	68716864	3	1	153	1	0	0	0	0	1	0	0	0	9435	1174	41	1	1394	1	MDM1	12	68716864	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1928734	68716864	65135031	860	26834										
RAP1B	5908	genome.wustl.edu	37	chr12	69044238	69044238	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgatcctacgatagaagattCttatagaaaggtatatatta	7	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:69044238C>G	ENST00000250559.9	+	3	347	c.116C>G	c.(115-117)tCt>tGt	p.S39C	RAP1B_ENST00000543697.1_Missense_Mutation_p.S39C|RAP1B_ENST00000341355.5_Missense_Mutation_p.S39C|RAP1B_ENST00000537460.1_Missense_Mutation_p.S39C|RAP1B_ENST00000540209.1_Missense_Mutation_p.S39C|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.S39C|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.S39C|RAP1B_ENST00000393436.5_Missense_Mutation_p.S39C|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000543393.1_Intron	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	39	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ATAGAAGATTCTTATAGAAAG	0.239																																																	0													25	28	27					12																	69044238		2176	4268	6444	SO:0001583	missense	5908				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.116C>G	12.37:g.69044238C>G	ENSP00000250559:p.Ser39Cys		B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S39C	ENST00000250559.9	37	c.116	CCDS8984.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570869	0.86542	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-0.52;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.35	5.35	0.76521	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86585	0.5968	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.983;0.987	D	0.84509	0.0621	9	.	.	.	.	19.9476	0.97189	0.0:1.0:0.0:0.0	.	39;39;39	B4DW94;B4DQI8;P61224	.;.;RAP1B_HUMAN	C	39	ENSP00000250559:S39C;ENSP00000377085:S39C;ENSP00000401095:S39C;ENSP00000445138:S39C;ENSP00000444786:S39C;ENSP00000441275:S39C;ENSP00000439966:S39C;ENSP00000437415:S39C;ENSP00000438088:S39C;ENSP00000441952:S39C;ENSP00000444060:S39C;ENSP00000446318:S39C;ENSP00000440466:S39C;ENSP00000440014:S39C;ENSP00000444924:S39C;ENSP00000440635:S39C;ENSP00000440708:S39C;ENSP00000438311:S39C;ENSP00000443851:S39C	.	S	+	2	0	RAP1B	67330505	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.775000	0.68915	2.890000	0.99128	0.585000	0.79938	TCT	RAP1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.239	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1B	HGNC	protein_coding	OTTHUMT00000257821.3	C	NM_001010942		69044238	1	no_errors	ENST00000250559	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69044238	C	G	69044238	3	3	153	1	0	0	0	0	1	0	0	0	13066	913	32	1	122	1	RAP1B	12	69044238	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	327374	69044238	64807657	861	26835										
KCNMB4	27345	genome.wustl.edu	37	chr12	70760704	70760704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtcggtgcagcagatcggcGaggtgttcgagtgcaccttc	15	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:70760704G>A	ENST00000258111.4	+	1	649	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	64					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCAGATCGGCGAGGTGTTCGA	0.617																																																	0													65	60	62					12																	70760704		2203	4300	6503	SO:0001583	missense	27345			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.190G>A	12.37:g.70760704G>A	ENSP00000258111:p.Glu64Lys		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.E64K	ENST00000258111.4	37	c.190	CCDS8997.1	12	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661107	0.88154	.	.	ENSG00000135643	ENST00000258111	T	0.10573	2.86	3.37	2.47	0.30058	.	0.130621	0.50627	D	0.000110	T	0.09686	0.0238	L	0.59436	1.845	0.47511	D	0.999443	P	0.36647	0.563	B	0.25140	0.058	T	0.13124	-1.0521	10	0.44086	T	0.13	-5.0891	10.491	0.44750	0.0987:0.0:0.9013:0.0	.	64	Q86W47	KCMB4_HUMAN	K	64	ENSP00000258111:E64K	ENSP00000258111:E64K	E	+	1	0	KCNMB4	69046971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.423000	0.66458	0.512000	0.28257	0.491000	0.48974	GAG	KCNMB4	-	pfam_K_chnl_Ca-activ_BK_bsu		0.617	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB4	HGNC	protein_coding	OTTHUMT00000395208.1	G	NM_014505		70760704	1	no_errors	ENST00000258111	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70760704	G	A	70760704	3	1	153	1	0	0	0	0	1	0	0	0	8097	1059	37	1	192	1	KCNMB4	12	70760704	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1716466	70760704	63091191	862	26836										
ZFC3H1	196441	genome.wustl.edu	37	chr12	72013120	72013120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagatccaagttattatactTctcaaaccccggtttaaaga	5	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:72013120T>C	ENST00000378743.3	-	27	5477	c.5119A>G	c.(5119-5121)Aag>Gag	p.K1707E		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1707					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTATTATACTTCTCAAACCCC	0.348																																																	0													66	62	63					12																	72013120		1815	4078	5893	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5119A>G	12.37:g.72013120T>C	ENSP00000368017:p.Lys1707Glu		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.K1707E	ENST00000378743.3	37	c.5119	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	8.663	0.900932	0.17760	.	.	ENSG00000133858	ENST00000378743	T	0.28255	1.62	5.55	3.19	0.36642	Tetratricopeptide-like helical (1);	0.394745	0.25978	N	0.027095	T	0.09598	0.0236	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12192	-1.0557	10	0.07990	T	0.79	.	2.9657	0.05907	0.0:0.3254:0.2418:0.4328	.	1707	O60293	ZC3H1_HUMAN	E	1707	ENSP00000368017:K1707E	ENSP00000368017:K1707E	K	-	1	0	ZFC3H1	70299387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.306000	0.33505	0.929000	0.37192	0.533000	0.62120	AAG	ZFC3H1	-	NULL		0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	T	NM_144982		72013120	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72013120	T	C	72013120	3	2	153	1	0	0	0	0	1	0	0	0	17663	1792	62	5	886	5	ZFC3H1	12	72013120	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	1252416	72013120	61838775	863	26837										
NAV3	89795	genome.wustl.edu	37	chr12	78401166	78401166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaaatggtgctgtccaactCcctcaacagcagcaacatag	9	12	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:78401166C>T	ENST00000397909.2	+	8	2021	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	NAV3_ENST00000228327.6_Silent_p.L616L|NAV3_ENST00000266692.7_Silent_p.L616L|NAV3_ENST00000536525.2_Silent_p.L616L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	616						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGTCCAACTCCCTCAACAGC	0.498										HNSCC(70;0.22)																																							0													134	133	133					12																	78401166		2104	4217	6321	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1848C>T	12.37:g.78401166C>T			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L616	ENST00000397909.2	37	c.1848		12																																																																																			NAV3	-	NULL		0.498	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78401166	1	no_errors	ENST00000397909	ensembl	human	known	70_37	silent	SNP	0.990	T	T	78401166	C	T	78401166	2	4	153	1	0	0	0	0	0	0	0	1	10208	842	30	1		1	NAV3	12	78401166	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6388046	78401166	55450729	864	26838										
MGAT4C	25834	genome.wustl.edu	37	chr12	86373920	86373920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcttggaacgaaatttgactCtatcttctggatcattgtaa	8	7	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:86373920C>G	ENST00000604798.1	-	8	1788	c.584G>C	c.(583-585)aGa>aCa	p.R195T	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R195T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R224T|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R195T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R195T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R195T			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	195					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAATTTGACTCTATCTTCTGG	0.343																																																	0													104	106	105					12																	86373920		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.584G>C	12.37:g.86373920C>G	ENSP00000474896:p.Arg195Thr		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.R224T	ENST00000604798.1	37	c.671	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	6.466	0.454111	0.12283	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.79	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.89904	3.07	0.38772	D	0.954579	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.75263	-0.3379	10	0.48119	T	0.1	-14.7983	8.7564	0.34648	0.1232:0.7466:0.0:0.1302	.	224;195	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	T	195;224;195;195;195;195;195	ENSP00000331664:R195T;ENSP00000376900:R224T;ENSP00000449022:R195T;ENSP00000446647:R195T;ENSP00000447253:R195T;ENSP00000449172:R195T	ENSP00000331664:R195T	R	-	2	0	MGAT4C	84898051	1.000000	0.71417	0.351000	0.25721	0.002000	0.02628	6.064000	0.71169	0.796000	0.33947	-0.150000	0.13652	AGA	MGAT4C	-	pfam_Glyco_transf_54		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373920	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	missense	SNP	0.685	G	G	86373920	C	G	86373920	3	3	153	1	0	0	0	0	1	0	0	0	9570	913	32	1	856	1	MGAT4C	12	86373920	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7972754	86373920	47477975	865	26839										
PLXNC1	10154	genome.wustl.edu	37	chr12	94543591	94543591	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccagggccaggcatccctcGactgcggccacggccacccc	11	20	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:94543591G>C	ENST00000258526.4	+	1	1093	c.844G>C	c.(844-846)Gac>Cac	p.D282H		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	282	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCATCCCTCGACTGCGGCCA	0.721																																																	0													15	17	16					12																	94543591		2131	4240	6371	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.844G>C	12.37:g.94543591G>C	ENSP00000258526:p.Asp282His		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D282H	ENST00000258526.4	37	c.844	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647634	0.47258	.	.	ENSG00000136040	ENST00000258526	T	0.04706	3.57	4.98	3.01	0.34805	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.406089	0.25935	N	0.027347	T	0.06188	0.0160	L	0.40543	1.245	0.80722	D	1	P	0.36086	0.536	B	0.40982	0.345	T	0.37267	-0.9713	10	0.52906	T	0.07	.	9.7073	0.40222	0.0757:0.2466:0.6777:0.0	.	282	O60486	PLXC1_HUMAN	H	282	ENSP00000258526:D282H	ENSP00000258526:D282H	D	+	1	0	PLXNC1	93067722	0.996000	0.38824	0.996000	0.52242	0.911000	0.54048	1.230000	0.32612	1.229000	0.43630	0.561000	0.74099	GAC	PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.721	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94543591	1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	0.999	C	C	94543591	G	C	94543591	3	2	153	1	0	0	0	0	1	0	0	0	12150	1058	37	1	846	1	PLXNC1	12	94543591	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8169671	94543591	39308304	866	26840										
GNPTAB	79158	genome.wustl.edu	37	chr12	102158230	102158230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccgcctatggttttttggGtgtgagtttccactctaaat	9	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:102158230G>A	ENST00000299314.7	-	13	2727	c.2465C>T	c.(2464-2466)aCc>aTc	p.T822I	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	822					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGTTTTTTGGGTGTGAGTTTC	0.443																																																	0													159	164	162					12																	102158230		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2465C>T	12.37:g.102158230G>A	ENSP00000299314:p.Thr822Ile		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.T822I	ENST00000299314.7	37	c.2465	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042216	0.19748	.	.	ENSG00000111670	ENST00000299314	D	0.96265	-3.96	5.37	3.56	0.40772	.	0.691569	0.14519	N	0.314612	D	0.92289	0.7554	L	0.36672	1.1	0.09310	N	0.99999	B	0.06786	0.001	B	0.06405	0.002	T	0.83349	-0.0004	10	0.32370	T	0.25	-4.2181	8.7894	0.34841	0.2316:0.0:0.7684:0.0	.	822	Q3T906	GNPTA_HUMAN	I	822	ENSP00000299314:T822I	ENSP00000299314:T822I	T	-	2	0	GNPTAB	100682361	0.001000	0.12720	0.009000	0.14445	0.026000	0.11368	0.410000	0.21098	0.655000	0.30866	-0.137000	0.14449	ACC	GNPTAB	-	NULL		0.443	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	G			102158230	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.008	A	A	102158230	G	A	102158230	3	1	153	1	0	0	0	0	1	0	0	0	6564	1261	44	4	1341	4	GNPTAB	12	102158230	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7614639	102158230	31693665	867	26841										
GNPTAB	79158	genome.wustl.edu	37	chr12	102161817	102161817	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtttaacacatccttaccaGagcaatccccaccatcccaa	3	16	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:102161817G>C	ENST00000299314.7	-	11	1668	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	GNPTAB_ENST00000549940.1_Missense_Mutation_p.S469C|RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	469	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTTACCAGAGCAATCCCC	0.398																																																	0													99	90	93					12																	102161817		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1406C>G	12.37:g.102161817G>C	ENSP00000299314:p.Ser469Cys		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.S469C	ENST00000299314.7	37	c.1406	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801750	0.31869	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92965	-3.14;-3.14	5.71	4.6	0.57074	Notch domain (4);	0.477800	0.23754	N	0.044889	D	0.86134	0.5860	N	0.24115	0.695	0.80722	D	1	P;P	0.41102	0.738;0.711	B;B	0.43478	0.413;0.421	D	0.84685	0.0719	10	0.54805	T	0.06	-21.9981	7.2621	0.26209	0.2306:0.0:0.7694:0.0	.	469;469	Q3T906-2;Q3T906	.;GNPTA_HUMAN	C	469	ENSP00000299314:S469C;ENSP00000449150:S469C	ENSP00000299314:S469C	S	-	2	0	GNPTAB	100685948	0.998000	0.40836	0.945000	0.38365	0.047000	0.14425	3.356000	0.52269	2.861000	0.98227	0.650000	0.86243	TCT	GNPTAB	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom		0.398	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	G			102161817	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.944	C	C	102161817	G	C	102161817	3	2	153	1	0	0	0	0	1	0	0	0	6564	942	33	1	2408	1	GNPTAB	12	102161817	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3587	102161817	31690078	868	26842										
ALDH1L2	160428	genome.wustl.edu	37	chr12	105456723	105456723	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttggtaacgagaccaggcttCttggcacctttaatttccag	9	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:105456723C>T	ENST00000258494.9	-	7	1004	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ALDH1L2_ENST00000424857.2_Silent_p.K288K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	288					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GACCAGGCTTCTTGGCACCTT	0.403																																																	0													81	76	78					12																	105456723		2203	4300	6503	SO:0001819	synonymous_variant	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.864G>A	12.37:g.105456723C>T			Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.K288	ENST00000258494.9	37	c.864	CCDS31891.1	12																																																																																			ALDH1L2	-	pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH		0.403	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	C	XM_090294		105456723	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	silent	SNP	0.938	T	T	105456723	C	T	105456723	2	4	153	1	0	0	0	0	0	0	0	1	495	912	32	1		1	ALDH1L2	12	105456723	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3294906	105456723	28395172	869	26843										
TCP11L2	255394	genome.wustl.edu	37	chr12	106729840	106729840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagatggagcacgtcttcagGaactaacagaaaagctgaat	10	8	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:106729840G>A	ENST00000299045.3	+	8	1165	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	331										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACGTCTTCAGGAACTAACAGA	0.378																																																	0													88	78	81					12																	106729840		2203	4300	6503	SO:0001583	missense	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.991G>A	12.37:g.106729840G>A	ENSP00000299045:p.Glu331Lys		B2RA65|G3V1Y9	Missense_Mutation	SNP	pfam_Tcp11	p.E331K	ENST00000299045.3	37	c.991	CCDS9104.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427203	0.83667	.	.	ENSG00000166046	ENST00000299045	T	0.12147	2.71	5.73	4.84	0.62591	.	0.090982	0.85682	N	0.000000	T	0.31638	0.0803	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.16041	-1.0416	10	0.09084	T	0.74	-2.9535	15.1635	0.72803	0.0679:0.0:0.9321:0.0	.	331	Q8N4U5	T11L2_HUMAN	K	331	ENSP00000299045:E331K	ENSP00000299045:E331K	E	+	1	0	TCP11L2	105253970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.861000	0.56002	1.561000	0.49584	0.655000	0.94253	GAA	TCP11L2	-	pfam_Tcp11		0.378	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	HGNC	protein_coding	OTTHUMT00000407206.1	G	NM_152772		106729840	1	no_errors	ENST00000299045	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106729840	G	A	106729840	3	1	153	1	0	0	0	0	1	0	0	0	15745	1175	41	1	1017	1	TCP11L2	12	106729840	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1273117	106729840	27122055	870	26844										
BTBD11	121551	genome.wustl.edu	37	chr12	108051308	108051308	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcttggagtcacagagctctCagcatattgcgaaggctact	10	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:108051308C>G	ENST00000280758.5	+	17	3656	c.3128C>G	c.(3127-3129)tCa>tGa	p.S1043*	BTBD11_ENST00000494235.2_Nonsense_Mutation_p.S122*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.S924*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.S580*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1043				S -> P (in Ref. 1; BAC03626). {ECO:0000305}.		integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGCTCTCAGCATATTGC	0.458																																																	0													86	81	82					12																	108051308		2203	4300	6503	SO:0001587	stop_gained	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3128C>G	12.37:g.108051308C>G	ENSP00000280758:p.Ser1043*		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.S1043*	ENST00000280758.5	37	c.3128	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.184963	0.97357	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	.	.	.	5.84	5.84	0.93424	.	0.113633	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	.	.	.	X	1043;924;580;122	.	ENSP00000280758:S1043X	S	+	2	0	BTBD11	106575438	0.996000	0.38824	0.964000	0.40570	0.910000	0.53928	7.463000	0.80869	2.760000	0.94817	0.655000	0.94253	TCA	BTBD11	-	NULL		0.458	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		108051308	1	no_errors	ENST00000280758	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	108051308	C	G	108051308	4	3	153	1	0	0	0	0	0	1	0	0	1542	838	29	1	3299	1	BTBD11	12	108051308	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1321468	108051308	25800587	871	26845										
PRDM4	11108	genome.wustl.edu	37	chr12	108150630	108150630	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggggcagggatggcactgtGagtgggtgaggcagccaatc	19	7	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:108150630G>C	ENST00000228437.5	-	3	583	c.124C>G	c.(124-126)Cac>Gac	p.H42D	PRDM4_ENST00000547268.1_5'UTR|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	42					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATGGCACTGTGAGTGGGTGAG	0.512																																																	0													76	61	66					12																	108150630		2203	4300	6503	SO:0001583	missense	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.124C>G	12.37:g.108150630G>C	ENSP00000228437:p.His42Asp		Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.H42D	ENST00000228437.5	37	c.124	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827316	0.71143	.	.	ENSG00000110851	ENST00000228437;ENST00000547188	D	0.82803	-1.65	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	L	0.27053	0.805	0.80722	D	1	B	0.26635	0.155	B	0.28139	0.086	T	0.75007	-0.3469	10	0.87932	D	0	-10.1518	20.1346	0.98019	0.0:0.0:1.0:0.0	.	42	Q9UKN5	PRDM4_HUMAN	D	42	ENSP00000228437:H42D	ENSP00000228437:H42D	H	-	1	0	PRDM4	106674760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CAC	PRDM4	-	pirsf_Znf_PRDM4		0.512	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1	G	NM_012406		108150630	-1	no_errors	ENST00000228437	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108150630	G	C	108150630	3	2	153	1	0	0	0	0	1	0	0	0	12486	1290	45	1	2321	1	PRDM4	12	108150630	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	99322	108150630	25701265	872	26846										
UNG	7374	genome.wustl.edu	37	chr12	109541279	109541279	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctcacggttcgtgcccatCaagccaactctcataaggag	8	14	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:109541279C>T	ENST00000242576.2	+	6	770	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	UNG_ENST00000336865.2_Nonsense_Mutation_p.Q213*	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCGTGCCCATCAAGCCAACTC	0.502								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													133	100	111					12																	109541279		2203	4300	6503	SO:0001587	stop_gained	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.664C>T	12.37:g.109541279C>T	ENSP00000242576:p.Gln222*			Nonsense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.Q222*	ENST00000242576.2	37	c.664	CCDS9124.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.270114	0.98175	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518	.	.	.	5.04	5.04	0.67666	.	0.232327	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-23.895	12.7952	0.57556	0.1635:0.8365:0.0:0.0	.	.	.	.	X	222;213;179	.	ENSP00000242576:Q222X	Q	+	1	0	UNG	108025662	0.997000	0.39634	1.000000	0.80357	0.955000	0.61496	3.546000	0.53656	2.500000	0.84329	0.650000	0.86243	CAA	UNG	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.502	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109541279	1	no_errors	ENST00000242576	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	109541279	C	T	109541279	4	4	153	1	0	0	0	0	0	1	0	0	17030	827	29	1	791	1	UNG	12	109541279	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1390649	109541279	24310616	873	26847										
ACACB	32	genome.wustl.edu	37	chr12	109614064	109614064	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggacttcccgatccttttcaGacaagtgagcagttcttgct	9	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:109614064G>C	ENST00000338432.7	+	9	1552	c.1433G>C	c.(1432-1434)aGa>aCa	p.R478T	ACACB_ENST00000377848.3_Missense_Mutation_p.R478T|ACACB_ENST00000377854.5_Missense_Mutation_p.R478T|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	478	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATCCTTTTCAGACAAGTGAGC	0.463																																																	0													158	162	161					12																	109614064		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1433G>C	12.37:g.109614064G>C	ENSP00000341044:p.Arg478Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R478T	ENST00000338432.7	37	c.1433	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.455783	0.96223	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97791	-4.54;-4.54;-4.54	5.91	5.91	0.95273	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99211	1.0876	10	0.66056	D	0.02	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	478	O00763	ACACB_HUMAN	T	478	ENSP00000341044:R478T;ENSP00000367079:R478T;ENSP00000367085:R478T	ENSP00000341044:R478T	R	+	2	0	ACACB	108098447	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.808000	0.99193	2.808000	0.96608	0.655000	0.94253	AGA	ACACB	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom		0.463	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	G	NM_001093		109614064	1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109614064	G	C	109614064	3	2	153	1	0	0	0	0	1	0	0	0	107	942	33	1	1463	1	ACACB	12	109614064	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	72785	109614064	24237831	874	26848										
C12orf34	84915	genome.wustl.edu	37	chr12	110206094	110206094	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcacggccgcaccagctggGcccgccaaaagtgtgctcaa	12	15	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:110206094G>T	ENST00000538780.1	+	3	1076	c.360G>T	c.(358-360)ggG>ggT	p.G120G	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.G120G|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	120																	CACCAGCTGGGCCCGCCAAAA	0.677																																																	0													15	13	14					12																	110206094		2192	4279	6471	SO:0001819	synonymous_variant	84915			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.360G>T	12.37:g.110206094G>T			Q8NCD5|Q96SP6	Silent	SNP	NULL	p.G120	ENST00000538780.1	37	c.360	CCDS9133.1	12																																																																																			FAM222A	-	NULL		0.677	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222A	HGNC	protein_coding	OTTHUMT00000403175.1	G	NM_032829		110206094	1	no_errors	ENST00000358906	ensembl	human	known	70_37	silent	SNP	0.005	T	T	110206094	G	T	110206094	2	4	153	1	0	0	0	0	0	0	0	1	1685	1190	42	4		4	C12orf34	12	110206094	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	592030	110206094	23645801	875	26849										
IFT81	28981	genome.wustl.edu	37	chr12	110628815	110628815	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactgaagagtgaagttgatGaaatgaaaggacgaacattg	12	4	0	6			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:110628815G>A	ENST00000242591.5	+	13	1935	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	IFT81_ENST00000552912.1_Missense_Mutation_p.E477K	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	477					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TGAAGTTGATGAAATGAAAGG	0.343																																																	0													129	122	124					12																	110628815		1866	4103	5969	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1429G>A	12.37:g.110628815G>A	ENSP00000242591:p.Glu477Lys		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.E477K	ENST00000242591.5	37	c.1429	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.527612	0.96431	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.12255	2.7;2.7	5.06	5.06	0.68205	.	0.144240	0.64402	D	0.000010	T	0.28167	0.0695	L	0.46885	1.475	0.80722	D	1	D	0.65815	0.995	P	0.59171	0.853	T	0.00492	-1.1707	10	0.38643	T	0.18	-19.1386	18.8013	0.92018	0.0:0.0:1.0:0.0	.	477	Q8WYA0	IFT81_HUMAN	K	477	ENSP00000449718:E477K;ENSP00000242591:E477K	ENSP00000242591:E477K	E	+	1	0	IFT81	109113198	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.273000	0.95719	2.509000	0.84616	0.655000	0.94253	GAA	IFT81	-	NULL		0.343	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	G	NM_014055		110628815	1	no_errors	ENST00000242591	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110628815	G	A	110628815	3	1	153	1	0	0	0	0	1	0	0	0	7585	1291	45	1	1587	1	IFT81	12	110628815	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	422721	110628815	23223080	876	26850										
TCTN1	79600	genome.wustl.edu	37	chr12	111078937	111078937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccactgcagcaaaagtttGaaattcattttcttcaggta	6	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:111078937G>C	ENST00000551590.1	+	9	1243	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	TCTN1_ENST00000397655.3_Missense_Mutation_p.E349Q|TCTN1_ENST00000397659.4_Missense_Mutation_p.E363Q|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.E185Q			Q2MV58	TECT1_HUMAN	tectonic family member 1	363					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCAAAAGTTTGAAATTCATTT	0.393																																																	0													144	133	137					12																	111078937		1889	4105	5994	SO:0001583	missense	79600			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1087G>C	12.37:g.111078937G>C	ENSP00000448735:p.Glu363Gln		A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.E363Q	ENST00000551590.1	37	c.1087	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665622	0.47677	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.87	3.94	0.45596	Domain of unknown function DUF1619 (1);	0.288960	0.41294	D	0.000914	T	0.71533	0.3351	L	0.31926	0.97	0.25588	N	0.986724	B;B;B;B;B	0.33826	0.053;0.427;0.286;0.053;0.187	B;B;B;B;B	0.31495	0.071;0.131;0.093;0.047;0.111	T	0.61926	-0.6962	10	0.32370	T	0.25	-9.6795	9.5212	0.39135	0.1406:0.1306:0.7288:0.0	.	363;349;363;303;307	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	Q	303;363;349;185;185;363;307	ENSP00000448735:E363Q;ENSP00000380775:E349Q;ENSP00000366882:E185Q;ENSP00000380779:E363Q	ENSP00000366882:E185Q	E	+	1	0	TCTN1	109563320	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	1.783000	0.38664	1.482000	0.48325	0.655000	0.94253	GAA	TCTN1	-	pfam_DUF1619		0.393	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	G	NM_024549		111078937	1	no_errors	ENST00000397659	ensembl	human	known	70_37	missense	SNP	0.996	C	C	111078937	G	C	111078937	3	2	153	1	0	0	0	0	1	0	0	0	15752	1291	45	1	1293	1	TCTN1	12	111078937	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	450122	111078937	22772958	877	26851										
CUX2	23316	genome.wustl.edu	37	chr12	111785986	111785986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgagtgccagccccactgctGacatggctggagccttgcac	12	15	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:111785986G>A	ENST00000261726.6	+	22	4472	c.4318G>A	c.(4318-4320)Gac>Aac	p.D1440N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1440					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCCACTGCTGACATGGCTGG	0.602																																																	0													69	76	74					12																	111785986		2002	4169	6171	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4318G>A	12.37:g.111785986G>A	ENSP00000261726:p.Asp1440Asn		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D1440N	ENST00000261726.6	37	c.4318	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374678	0.11409	.	.	ENSG00000111249	ENST00000261726	T	0.45276	0.9	5.58	3.76	0.43208	.	0.277249	0.34223	N	0.004148	T	0.35998	0.0951	L	0.51422	1.61	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.19031	-1.0318	10	0.25106	T	0.35	-26.7725	12.5746	0.56357	0.1051:0.0:0.8949:0.0	.	1440	O14529	CUX2_HUMAN	N	1440	ENSP00000261726:D1440N	ENSP00000261726:D1440N	D	+	1	0	CUX2	110270369	0.008000	0.16893	0.172000	0.22920	0.096000	0.18686	1.410000	0.34691	0.721000	0.32231	0.655000	0.94253	GAC	CUX2	-	NULL		0.602	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	G	NM_015267		111785986	1	no_errors	ENST00000261726	ensembl	human	known	70_37	missense	SNP	0.105	A	A	111785986	G	A	111785986	3	1	153	1	0	0	0	0	1	0	0	0	4070	1290	45	1	4404	1	CUX2	12	111785986	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	707049	111785986	22065909	878	26852										
ERP29	10961	genome.wustl.edu	37	chr12	112460219	112460219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccaggccctcttgaagcaGgggcaagataacctctcaag	11	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112460219G>C	ENST00000261735.3	+	3	699	c.549G>C	c.(547-549)caG>caC	p.Q183H	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.Q82H	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	183					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCTTGAAGCAGGGGCAAGATA	0.572																																																	0													46	45	45					12																	112460219		2203	4300	6503	SO:0001583	missense	10961			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"Protein disulfide isomerases"	13799	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 9"	602287	"chromosome 12 open reading frame 8"	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.549G>C	12.37:g.112460219G>C	ENSP00000261735:p.Gln183His		C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.Q183H	ENST00000261735.3	37	c.549	CCDS9158.1	12	.	.	.	.	.	.	.	.	.	.	G	8.375	0.836144	0.16891	.	.	ENSG00000089248	ENST00000261735;ENST00000546477	.	.	.	5.57	0.968	0.19680	Endoplasmic reticulum, protein ERp29, C-terminal (3);	0.849164	0.10437	N	0.674723	T	0.37999	0.1024	L	0.53249	1.67	0.21822	N	0.999523	B	0.31893	0.345	B	0.28305	0.088	T	0.30650	-0.9971	9	0.66056	D	0.02	-3.22	11.7807	0.52013	0.2577:0.0:0.7423:0.0	.	183	P30040	ERP29_HUMAN	H	183;82	.	ENSP00000261735:Q183H	Q	+	3	2	ERP29	110944602	0.949000	0.32298	0.600000	0.28864	0.138000	0.21146	1.162000	0.31786	0.261000	0.21753	0.561000	0.74099	CAG	ERP29	-	pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29		0.572	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1	G			112460219	1	no_errors	ENST00000261735	ensembl	human	known	70_37	missense	SNP	0.264	C	C	112460219	G	C	112460219	3	2	153	1	0	0	0	0	1	0	0	0	5254	991	35	4	559	4	ERP29	12	112460219	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	674233	112460219	21391676	879	26853										
TRAFD1	10906	genome.wustl.edu	37	chr12	112578867	112578867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaatcttggggtcaggatgGaatctggattgcatcccaac	12	8	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112578867G>A	ENST00000257604.5	+	5	1099	c.482G>A	c.(481-483)gGa>gAa	p.G161E	TRAFD1_ENST00000412615.2_Missense_Mutation_p.G161E	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	161					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGTCAGGATGGAATCTGGATT	0.507																																																	0													91	78	83					12																	112578867		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.482G>A	12.37:g.112578867G>A	ENSP00000257604:p.Gly161Glu		A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.G161E	ENST00000257604.5	37	c.482	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706620	0.48412	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896	T;T;T	0.02974	4.09;4.09;4.09	5.92	4.1	0.47936	.	0.475212	0.22997	N	0.053136	T	0.02688	0.0081	L	0.34521	1.04	0.30765	N	0.743677	B;P	0.40211	0.103;0.707	B;B	0.37888	0.067;0.26	T	0.34304	-0.9834	10	0.22706	T	0.39	-5.2532	9.7125	0.40254	0.1611:0.0:0.8389:0.0	.	161;161	F8VNX8;O14545	.;TRAD1_HUMAN	E	161	ENSP00000396526:G161E;ENSP00000257604:G161E;ENSP00000450357:G161E	ENSP00000257604:G161E	G	+	2	0	TRAFD1	111063250	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.172000	0.42463	1.514000	0.48869	0.563000	0.77884	GGA	TRAFD1	-	NULL		0.507	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	G	NM_006700		112578867	1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.973	A	A	112578867	G	A	112578867	3	1	153	1	0	0	0	0	1	0	0	0	16478	1174	41	1	496	1	TRAFD1	12	112578867	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	118648	112578867	21273028	880	26854										
TRAFD1	10906	genome.wustl.edu	37	chr12	112589766	112589766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgggtgccagcccagctctCcttgtgtgccgaagctcagc	12	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112589766C>G	ENST00000257604.5	+	10	2058	c.1441C>G	c.(1441-1443)Cct>Gct	p.P481A	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Missense_Mutation_p.P481A	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	481					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GCCCAGCTCTCCTTGTGTGCC	0.572																																																	0													137	147	144					12																	112589766		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1441C>G	12.37:g.112589766C>G	ENSP00000257604:p.Pro481Ala		A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.P481A	ENST00000257604.5	37	c.1441	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538314	0.27475	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.36157	1.27;1.27	6.02	2.0	0.26442	.	0.739449	0.12933	N	0.427243	T	0.32436	0.0829	M	0.72118	2.19	0.35662	D	0.812618	P	0.37207	0.587	B	0.33454	0.164	T	0.35847	-0.9772	10	0.72032	D	0.01	-2.1863	4.8753	0.13653	0.0:0.5805:0.153:0.2665	.	481	O14545	TRAD1_HUMAN	A	481	ENSP00000396526:P481A;ENSP00000257604:P481A	ENSP00000257604:P481A	P	+	1	0	TRAFD1	111074149	0.769000	0.28531	0.641000	0.29422	0.207000	0.24258	0.173000	0.16724	0.086000	0.17137	0.650000	0.86243	CCT	TRAFD1	-	NULL		0.572	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	C	NM_006700		112589766	1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.886	G	G	112589766	C	G	112589766	3	3	153	1	0	0	0	0	1	0	0	0	16478	855	30	1	1475	1	TRAFD1	12	112589766	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10899	112589766	21262129	881	26855										
KSR2	283455	genome.wustl.edu	37	chr12	118199001	118199001	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcggggtcacggtggtgacGatgttgggggtgcgcggcgg	24	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:118199001G>A	ENST00000339824.5	-	4	1528	c.801C>T	c.(799-801)atC>atT	p.I267I	KSR2_ENST00000425217.1_Silent_p.I238I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	267	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGGTGACGATGTTGGGGG	0.721																																																	0													60	75	70					12																	118199001		1856	4079	5935	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.801C>T	12.37:g.118199001G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I267	ENST00000339824.5	37	c.801		12																																																																																			KSR2	-	NULL		0.721	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	G	NM_173598		118199001	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	0.268	A	A	118199001	G	A	118199001	2	1	153	1	0	0	0	0	0	0	0	1	8602	1048	37	1		1	KSR2	12	118199001	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5609235	118199001	15652894	882	26856										
ACADS	35	genome.wustl.edu	37	chr12	121175684	121175684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgtccaccaccgcccgggccGagggcgactcatgggttctg	14	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:121175684G>A	ENST00000242592.4	+	5	668	c.517G>A	c.(517-519)Gag>Aag	p.E173K	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	173					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CGCCCGGGCCGAGGGCGACTC	0.652																																																	0													54	54	54					12																	121175684		2203	4300	6503	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.517G>A	12.37:g.121175684G>A	ENSP00000242592:p.Glu173Lys		P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E173K	ENST00000242592.4	37	c.517	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251966	0.39797	.	.	ENSG00000122971	ENST00000242592	D	0.95622	-3.76	5.16	4.26	0.50523	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.324987	0.35970	N	0.002866	D	0.90222	0.6943	N	0.21282	0.65	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.15484	0.013;0.013	D	0.85217	0.1024	10	0.20046	T	0.44	.	13.5026	0.61467	0.0759:0.0:0.9241:0.0	.	173;173	E5KSD5;P16219	.;ACADS_HUMAN	K	173	ENSP00000242592:E173K	ENSP00000242592:E173K	E	+	1	0	ACADS	119660067	1.000000	0.71417	0.018000	0.16275	0.163000	0.22366	9.391000	0.97249	1.166000	0.42689	0.462000	0.41574	GAG	ACADS	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase		0.652	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	G	NM_000017		121175684	1	no_errors	ENST00000242592	ensembl	human	known	70_37	missense	SNP	0.964	A	A	121175684	G	A	121175684	3	1	153	1	0	0	0	0	1	0	0	0	114	1059	37	1	535	1	ACADS	12	121175684	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2976683	121175684	12676211	883	26857										
KDM2B	84678	genome.wustl.edu	37	chr12	121947490	121947490	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccttcagttcaaactcagtGagatgggtccatttggcaga	10	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:121947490G>C	ENST00000377071.4	-	11	1599	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	KDM2B_ENST00000377069.4_Silent_p.L478L|KDM2B_ENST00000536437.1_Silent_p.L392L|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Silent_p.L419L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	509					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAACTCAGTGAGATGGGTCC	0.587																																																	0													71	74	73					12																	121947490		1895	4112	6007	SO:0001819	synonymous_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1527C>G	12.37:g.121947490G>C			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L509	ENST00000377071.4	37	c.1527	CCDS41850.1	12																																																																																			KDM2B	-	NULL		0.587	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	G	NM_032590		121947490	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	silent	SNP	1.000	C	C	121947490	G	C	121947490	2	2	153	1	0	0	0	0	0	0	0	1	8145	1277	45	1		1	KDM2B	12	121947490	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	771806	121947490	11904405	884	26858										
MORN3	283385	genome.wustl.edu	37	chr12	122091038	122091038	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcacggccaaagtcgatcatCgtcccgcatttggccatatt	8	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:122091038C>T	ENST00000355329.3	-	4	761	c.591G>A	c.(589-591)acG>acA	p.T197T		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	197						nucleus (GO:0005634)		p.T197T(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AGTCGATCATCGTCCCGCATT	0.617																																																	1	Substitution - coding silent(1)	lung(1)											58	47	51					12																	122091038		2203	4300	6503	SO:0001819	synonymous_variant	283385			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.591G>A	12.37:g.122091038C>T			Q86YQ9	Silent	SNP	pfam_MORN,smart_MORN	p.T197	ENST00000355329.3	37	c.591	CCDS31917.1	12																																																																																			MORN3	-	NULL		0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	C	NM_173855		122091038	-1	no_errors	ENST00000355329	ensembl	human	known	70_37	silent	SNP	0.658	T	T	122091038	C	T	122091038	2	4	153	1	0	0	0	0	0	0	0	1	9732	871	31	1		1	MORN3	12	122091038	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	143548	122091038	11760857	885	26859										
PSMD9	5715	genome.wustl.edu	37	chr12	122340930	122340930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggtctgcaagtggatgatGagattgtggagttcggctct	16	5	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:122340930G>A	ENST00000541212.1	+	4	598	c.472G>A	c.(472-474)Gag>Aag	p.E158K	RP11-87C12.2_ENST00000546333.1_3'UTR|PSMD9_ENST00000542602.1_Missense_Mutation_p.E53K|PSMD9_ENST00000261817.2_Missense_Mutation_p.E158K|PSMD9_ENST00000340175.5_Missense_Mutation_p.E158K			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	158	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGTGGATGATGAGATTGTGGA	0.507																																																	0													160	125	137					12																	122340930		2203	4300	6503	SO:0001583	missense	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.472G>A	12.37:g.122340930G>A	ENSP00000440485:p.Glu158Lys		B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.E158K	ENST00000541212.1	37	c.472	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809934	0.50421	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000544724;ENST00000542602	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.6	3.78	0.43462	PDZ/DHR/GLGF (2);	0.049615	0.85682	D	0.000000	T	0.17831	0.0428	L	0.37630	1.12	0.58432	D	0.999993	B;P	0.49635	0.39;0.926	B;P	0.47891	0.234;0.56	T	0.01930	-1.1245	10	0.24483	T	0.36	-27.3709	12.1377	0.53981	0.1384:0.0:0.8615:0.0	.	158;158	F8W7V8;O00233	.;PSMD9_HUMAN	K	158;158;158;69;53	ENSP00000440485:E158K;ENSP00000340847:E158K;ENSP00000261817:E158K;ENSP00000443929:E69K;ENSP00000443772:E53K	ENSP00000261817:E158K	E	+	1	0	RP11-87C12.2;PSMD9	120825313	1.000000	0.71417	0.631000	0.29282	0.937000	0.57800	5.124000	0.64709	0.734000	0.32515	0.655000	0.94253	GAG	PSMD9	-	pfam_PDZ,superfamily_PDZ,smart_PDZ		0.507	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	G	NM_002813		122340930	1	no_errors	ENST00000541212	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122340930	G	A	122340930	3	1	153	1	0	0	0	0	1	0	0	0	12732	1291	45	1	486	1	PSMD9	12	122340930	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	249892	122340930	11510965	886	26860										
MLXIP	22877	genome.wustl.edu	37	chr12	122618098	122618098	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagcccttcctccctgtcttCaccatgcccctgctgtctcc	5	21	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:122618098C>T	ENST00000319080.7	+	9	1428	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	MLXIP_ENST00000538698.1_Silent_p.F39F|MLXIP_ENST00000377037.2_Intron					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCTGTCTTCACCATGCCCC	0.657																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													17	20	19					12																	122618098		2088	4209	6297	SO:0001819	synonymous_variant	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1296C>T	12.37:g.122618098C>T				Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F432	ENST00000319080.7	37	c.1296		12																																																																																			MLXIP	-	NULL		0.657	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	C	NM_014938		122618098	1	no_errors	ENST00000319080	ensembl	human	known	70_37	silent	SNP	0.888	T	T	122618098	C	T	122618098	2	4	153	1	0	0	0	0	0	0	0	1	9659	825	29	1		1	MLXIP	12	122618098	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	277168	122618098	11233797	887	26861										
KNTC1	9735	genome.wustl.edu	37	chr12	123052845	123052845	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatttctaaataatgaagatGatcttaaagatattttttta	4	2	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:123052845G>A	ENST00000333479.7	+	21	1819	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D511N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	548					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAATGAAGATGATCTTAAAGA	0.299																																																	0													121	123	122					12																	123052845		1803	4070	5873	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1642G>A	12.37:g.123052845G>A	ENSP00000328236:p.Asp548Asn		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.D548N	ENST00000333479.7	37	c.1642	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503618	0.44558	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.21543	2.0;2.58	5.36	4.36	0.52297	.	0.486350	0.23155	N	0.051310	T	0.14056	0.0340	L	0.36672	1.1	0.80722	D	1	B;B	0.18863	0.031;0.024	B;B	0.13407	0.006;0.009	T	0.09015	-1.0694	10	0.18276	T	0.48	-15.648	7.1674	0.25698	0.263:0.0:0.737:0.0	.	511;548	E7ES84;P50748	.;KNTC1_HUMAN	N	511;548	ENSP00000397992:D511N;ENSP00000328236:D548N	ENSP00000328236:D548N	D	+	1	0	KNTC1	121618798	0.171000	0.23029	1.000000	0.80357	0.750000	0.42670	0.749000	0.26320	2.516000	0.84829	0.460000	0.39030	GAT	KNTC1	-	NULL		0.299	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123052845	1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.998	A	A	123052845	G	A	123052845	3	1	153	1	0	0	0	0	1	0	0	0	8448	1290	45	1	1720	1	KNTC1	12	123052845	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	434747	123052845	10799050	888	26862										
DNAH10	196385	genome.wustl.edu	37	chr12	124330576	124330576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcggttttattgggaccggGagccggatgagctgaacatc	15	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124330576G>A	ENST00000409039.3	+	31	5360	c.5335G>A	c.(5335-5337)Gag>Aag	p.E1779K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1779	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGGGACCGGGAGCCGGATGA	0.582																																																	0													92	96	95					12																	124330576		1945	4130	6075	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5335G>A	12.37:g.124330576G>A	ENSP00000386770:p.Glu1779Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.E1779K	ENST00000409039.3	37	c.5335	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209827	0.58343	.	.	ENSG00000197653	ENST00000409039	T	0.23348	1.91	5.56	5.56	0.83823	.	0.933563	0.08731	U	0.902080	T	0.32615	0.0835	L	0.49699	1.58	0.49389	D	0.99978	B	0.20780	0.048	B	0.23419	0.046	T	0.11641	-1.0579	10	0.30854	T	0.27	.	19.5312	0.95230	0.0:0.0:1.0:0.0	.	1779	Q8IVF4	DYH10_HUMAN	K	1779	ENSP00000386770:E1779K	ENSP00000386770:E1779K	E	+	1	0	DNAH10	122896529	0.999000	0.42202	0.532000	0.27989	0.826000	0.46750	2.937000	0.48979	2.606000	0.88127	0.561000	0.74099	GAG	DNAH10	-	NULL		0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124330576	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124330576	G	A	124330576	3	1	153	1	0	0	0	0	1	0	0	0	4608	1175	41	1	5457	1	DNAH10	12	124330576	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1277731	124330576	9521319	889	26863										
DNAH10	196385	genome.wustl.edu	37	chr12	124363859	124363859	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtctggaggaatgagtgtctGagagtcttccacgaccggct	14	9	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124363859G>A	ENST00000409039.3	+	48	8092	c.8067G>A	c.(8065-8067)ctG>ctA	p.L2689L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2689					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGAGTGTCTGAGAGTCTTCC	0.483																																																	0													47	48	48					12																	124363859		1965	4171	6136	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8067G>A	12.37:g.124363859G>A			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.L2689	ENST00000409039.3	37	c.8067	CCDS9255.2	12																																																																																			DNAH10	-	NULL		0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124363859	1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	1.000	A	A	124363859	G	A	124363859	2	1	153	1	0	0	0	0	0	0	0	1	4608	1277	45	1		1	DNAH10	12	124363859	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	33283	124363859	9488036	890	26864										
DNAH10	196385	genome.wustl.edu	37	chr12	124416304	124416304	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagcgcctcggaacaggactCtcccccacttcggtggtgct	11	15	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124416304C>G	ENST00000409039.3	+	74	12709	c.12684C>G	c.(12682-12684)ctC>ctG	p.L4228L	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4228					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAACAGGACTCTCCCCCACTT	0.527																																																	0													98	97	98					12																	124416304		1955	4138	6093	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12684C>G	12.37:g.124416304C>G			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.L4228	ENST00000409039.3	37	c.12684	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy_dom		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124416304	1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.993	G	G	124416304	C	G	124416304	2	3	153	1	0	0	0	0	0	0	0	1	4608	900	32	1		1	DNAH10	12	124416304	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	52445	124416304	9435591	891	26865										
DNAH10	196385	genome.wustl.edu	37	chr12	124416389	124416389	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgaagtctctggctgaacttCaaagggtgagcctgtctctc	11	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124416389C>G	ENST00000409039.3	+	74	12794	c.12769C>G	c.(12769-12771)Caa>Gaa	p.Q4257E	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4257					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTGAACTTCAAAGGGTGAG	0.537																																																	0													111	109	110					12																	124416389		2023	4186	6209	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12769C>G	12.37:g.124416389C>G	ENSP00000386770:p.Gln4257Glu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.Q4257E	ENST00000409039.3	37	c.12769	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121614	0.56613	.	.	ENSG00000197653	ENST00000409039	T	0.08008	3.14	5.46	5.46	0.80206	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.20373	0.0490	M	0.63208	1.945	0.80722	D	1	D	0.56035	0.974	P	0.57720	0.826	T	0.05632	-1.0873	10	0.07482	T	0.82	.	18.9279	0.92552	0.0:1.0:0.0:0.0	.	4257	Q8IVF4	DYH10_HUMAN	E	4257	ENSP00000386770:Q4257E	ENSP00000386770:Q4257E	Q	+	1	0	DNAH10	122982342	1.000000	0.71417	0.988000	0.46212	0.108000	0.19459	6.074000	0.71253	2.563000	0.86464	0.655000	0.94253	CAA	DNAH10	-	pfam_Dynein_heavy_dom		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124416389	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124416389	C	G	124416389	3	3	153	1	0	0	0	0	1	0	0	0	4608	827	29	1	13063	1	DNAH10	12	124416389	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	85	124416389	9435506	892	26866										
SCARB1	949	genome.wustl.edu	37	chr12	125296452	125296452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacttgtccacgaggtggatCctgctgatgttctggacccc	11	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:125296452C>T	ENST00000415380.2	-	5	815	c.690G>A	c.(688-690)agG>agA	p.R230R	SCARB1_ENST00000541205.1_Silent_p.R189R|SCARB1_ENST00000540495.1_Silent_p.R193R|SCARB1_ENST00000376788.1_Silent_p.R130R|SCARB1_ENST00000339570.5_Silent_p.R230R|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000546215.1_Silent_p.R230R|SCARB1_ENST00000544327.1_Silent_p.R176R|SCARB1_ENST00000261693.6_Silent_p.R230R			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	230					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGAGGTGGATCCTGCTGATGT	0.632																																																	0													109	77	88					12																	125296452		2203	4300	6503	SO:0001819	synonymous_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.690G>A	12.37:g.125296452C>T			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.R230	ENST00000415380.2	37	c.690		12																																																																																			SCARB1	-	pfam_CD36		0.632	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	C	NM_005505		125296452	-1	no_errors	ENST00000415380	ensembl	human	known	70_37	silent	SNP	0.929	T	T	125296452	C	T	125296452	2	4	153	1	0	0	0	0	0	0	0	1	13911	854	30	1		1	SCARB1	12	125296452	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	880063	125296452	8555443	893	26867										
ULK1	8408	genome.wustl.edu	37	chr12	132399633	132399633	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgccttgtcttcaggtcctCtgccatccgcaggtcaggca	10	15	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:132399633C>G	ENST00000321867.4	+	17	1730	c.1379C>G	c.(1378-1380)tCt>tGt	p.S460C		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	460					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TTCAGGTCCTCTGCCATCCGC	0.657																																																	0													30	30	30					12																	132399633		2200	4291	6491	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1379C>G	12.37:g.132399633C>G	ENSP00000324560:p.Ser460Cys		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S460C	ENST00000321867.4	37	c.1379	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	C	8.828	0.939135	0.18281	.	.	ENSG00000177169	ENST00000321867	T	0.69561	-0.41	4.2	3.26	0.37387	.	0.867601	0.09903	N	0.740772	T	0.61060	0.2317	L	0.47716	1.5	0.20074	N	0.999932	B	0.06786	0.001	B	0.08055	0.003	T	0.55585	-0.8118	10	0.66056	D	0.02	-10.3903	12.2524	0.54605	0.0:0.7585:0.2415:0.0	.	460	O75385	ULK1_HUMAN	C	460	ENSP00000324560:S460C	ENSP00000324560:S460C	S	+	2	0	ULK1	130965586	0.965000	0.33210	0.854000	0.33618	0.477000	0.33069	1.783000	0.38664	2.213000	0.71641	0.391000	0.25812	TCT	ULK1	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.657	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	C			132399633	1	no_errors	ENST00000321867	ensembl	human	known	70_37	missense	SNP	0.214	G	G	132399633	C	G	132399633	3	3	153	1	0	0	0	0	1	0	0	0	17006	913	32	1	1445	1	ULK1	12	132399633	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7103181	132399633	1452262	894	26868										
PSPC1	55269	genome.wustl.edu	37	chr13	20356657	20356657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccacgaagaggcggcagcGctgcgtgtacgtcttctcgc	13	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:20356657G>A	ENST00000338910.4	-	1	400	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	81					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AGGCGGCAGCGCTGCGTGTAC	0.612																																																	0													62	67	66					13																	20356657		2004	4189	6193	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.241C>T	13.37:g.20356657G>A	ENSP00000343966:p.Arg81Cys		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.R81C	ENST00000338910.4	37	c.241	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258999	0.59321	.	.	ENSG00000121390	ENST00000338910;ENST00000422828;ENST00000427943	T;T	0.06068	3.35;3.35	5.28	5.28	0.74379	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.49350	1.555	0.80722	D	1	P	0.41475	0.751	B	0.34722	0.188	T	0.04976	-1.0914	10	0.87932	D	0	-6.9822	19.1107	0.93315	0.0:0.0:1.0:0.0	.	81	Q8WXF1	PSPC1_HUMAN	C	81;21;81	ENSP00000343966:R81C;ENSP00000393069:R81C	ENSP00000343966:R81C	R	-	1	0	PSPC1	19254657	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.285000	0.65633	2.753000	0.94483	0.467000	0.42956	CGC	PSPC1	-	NULL		0.612	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	G			20356657	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20356657	G	A	20356657	3	1	153	1	0	0	0	0	1	0	0	0	12743	1087	38	2	1366	2	PSPC1	13	20356657	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		20356657	94813221	895	26869										
SPATA13	221178	genome.wustl.edu	37	chr13	24797596	24797596	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggtgccctcaggccagcaGagtggggcacattggatggc	17	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:24797596G>C	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Missense_Mutation_p.E177Q|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.E177Q|SPATA13_ENST00000424834.2_Missense_Mutation_p.E177Q	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAGGCCAGCAGAGTGGGGCAC	0.672																																																	0													26	32	30					13																	24797596		692	1591	2283	SO:0001627	intron_variant	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26019G>C	13.37:g.24797596G>C			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E177Q	ENST00000382095.4	37	c.529	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.941938|1.941938	0.34283|0.34283	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	T|.	0.73789|.	-0.78|.	4.95|4.95	4.11|4.11	0.48088|0.48088	.|.	0.241765|.	0.20078|.	U|.	0.099713|.	T|T	0.22360|0.22360	0.0539|0.0539	N|N	0.08118|0.08118	0|0	0.21064|0.21064	N|N	0.999798|0.999798	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19224|0.19224	-1.0312|-1.0312	8|5	0.45353|.	T|.	0.12|.	.|.	13.2748|13.2748	0.60182|0.60182	0.0:0.2071:0.7929:0.0|0.0:0.2071:0.7929:0.0	.|.	.|.	.|.	.|.	Q|T	177|214	ENSP00000371542:E177Q|.	ENSP00000371542:E177Q|.	E|R	+|+	1|2	0|0	SPATA13|SPATA13	23695596|23695596	0.660000|0.660000	0.27420|0.27420	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	3.583000|3.583000	0.53928|0.53928	1.091000|1.091000	0.41335|0.41335	0.478000|0.478000	0.44815|0.44815	GAG|AGA	SPATA13	-	NULL		0.672	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	G	NM_153023		24797596	1	no_errors	ENST00000382108	ensembl	human	known	70_37	missense	SNP	0.012	C	C	24797596	G	C	24797596	1	2	153	0	1	0	0	0	0	0	0	0	15030	943	33	1		1	SPATA13	13	24797596	Intron	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4440939	24797596	90372282	896	26870										
CDK8	1024	genome.wustl.edu	37	chr13	26978201	26978201	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcctccacagtactcacatCagacacatcggtactgagct	7	14	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:26978201C>G	ENST00000381527.3	+	13	1881	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	460					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTACTCACATCAGACACATCG	0.572																																																	0													179	136	151					13																	26978201		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1378C>G	13.37:g.26978201C>G	ENSP00000370938:p.Gln460Glu		Q5VUF3|Q6ISB5	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.Q460E	ENST00000381527.3	37	c.1378	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933561	0.73442	.	.	ENSG00000132964	ENST00000381527	T	0.69175	-0.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	L	0.51422	1.61	0.80722	D	1	D;D	0.58268	0.982;0.975	D;D	0.70227	0.968;0.953	T	0.79940	-0.1591	10	0.72032	D	0.01	-10.2173	19.4585	0.94906	0.0:1.0:0.0:0.0	.	459;460	P49336-2;P49336	.;CDK8_HUMAN	E	460	ENSP00000370938:Q460E	ENSP00000370938:Q460E	Q	+	1	0	CDK8	25876201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.605000	0.88082	0.591000	0.81541	CAG	CDK8	-	NULL		0.572	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	C			26978201	1	no_errors	ENST00000381527	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26978201	C	G	26978201	3	3	153	1	0	0	0	0	1	0	0	0	3155	827	29	1	1428	1	CDK8	13	26978201	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2180605	26978201	88191677	897	26871										
FLT1	2321	genome.wustl.edu	37	chr13	28895716	28895716	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctcgctgccaggtcccgatGaatgcactataataaaacag	8	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:28895716G>A	ENST00000282397.4	-	23	3309	c.3058C>T	c.(3058-3060)Cat>Tat	p.H1020Y	FLT1_ENST00000540678.1_Missense_Mutation_p.H238Y|FLT1_ENST00000543394.1_Missense_Mutation_p.H43Y	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1020	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGTCCCGATGAATGCACTAT	0.388																																																	0													108	95	100					13																	28895716		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3058C>T	13.37:g.28895716G>A	ENSP00000282397:p.His1020Tyr		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.H1020Y	ENST00000282397.4	37	c.3058	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943121	0.92526	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.96992	-4.2;-4.2;-4.2	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98766	1.0726	10	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	1020	P17948	VGFR1_HUMAN	Y	1020;43;238	ENSP00000282397:H1020Y;ENSP00000437841:H43Y;ENSP00000443311:H238Y	ENSP00000282397:H1020Y	H	-	1	0	FLT1	27793716	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.823000	0.99369	2.779000	0.95612	0.655000	0.94253	CAT	FLT1	-	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,pfscan_Prot_kinase_cat_dom		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	G			28895716	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28895716	G	A	28895716	3	1	153	1	0	0	0	0	1	0	0	0	5959	1290	45	1	990	1	FLT1	13	28895716	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1917515	28895716	86274162	898	26872										
USPL1	10208	genome.wustl.edu	37	chr13	31232305	31232305	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgaagtcagtagaaattgaGaaggacgctcagttaaaaca	11	5	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:31232305G>A	ENST00000255304.4	+	9	2433	c.2091G>A	c.(2089-2091)gaG>gaA	p.E697E		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	697					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TAGAAATTGAGAAGGACGCTC	0.343																																					Ovarian(60;318 1180 1554 28110 31601)												0													53	53	53					13																	31232305		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2091G>A	13.37:g.31232305G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.E697	ENST00000255304.4	37	c.2091	CCDS9336.1	13																																																																																			USPL1	-	NULL		0.343	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31232305	1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31232305	G	A	31232305	2	1	153	1	0	0	0	0	0	0	0	1	17123	933	33	1		1	USPL1	13	31232305	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2336589	31232305	83937573	899	26873										
PDS5B	23047	genome.wustl.edu	37	chr13	33261335	33261335	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taagaaatatgctttacagtCagcagctggaaaagatgctg	10	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:33261335C>T	ENST00000315596.10	+	12	1454	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	423					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTTACAGTCAGCAGCTGGA	0.323																																																	0													105	108	107					13																	33261335		1831	4080	5911	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1268C>T	13.37:g.33261335C>T	ENSP00000313851:p.Ser423Leu		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S423L	ENST00000315596.10	37	c.1268	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995368	0.54147	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.189457	0.44688	D	0.000430	T	0.50326	0.1609	L	0.34521	1.04	0.48040	D	0.999579	B;B	0.22851	0.071;0.076	B;B	0.23574	0.046;0.047	T	0.42120	-0.9470	9	0.11485	T	0.65	-0.8595	15.5658	0.76290	0.0:0.8628:0.1372:0.0	.	423;423	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	L	423	.	ENSP00000313851:S423L	S	+	2	0	PDS5B	32159335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.022000	0.49659	2.824000	0.97209	0.655000	0.94253	TCA	PDS5B	-	superfamily_ARM-type_fold		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	C	NM_015032		33261335	1	no_errors	ENST00000315596	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33261335	C	T	33261335	3	4	153	1	0	0	0	0	1	0	0	0	11716	838	29	1	1310	1	PDS5B	13	33261335	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2029030	33261335	81908543	900	26874										
NBEA	26960	genome.wustl.edu	37	chr13	35770151	35770151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatggggcagaattagaaaCaagtacaggccctgatgcca	12	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:35770151C>A	ENST00000400445.3	+	31	5612	c.5078C>A	c.(5077-5079)aCa>aAa	p.T1693K	NBEA_ENST00000310336.4_Missense_Mutation_p.T1693K|NBEA_ENST00000540320.1_Missense_Mutation_p.T1693K|NBEA_ENST00000379939.2_Missense_Mutation_p.T1690K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1693					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAATTAGAAACAAGTACAGGC	0.433																																																	0													77	76	76					13																	35770151		1904	4130	6034	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5078C>A	13.37:g.35770151C>A	ENSP00000383295:p.Thr1693Lys		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T1693K	ENST00000400445.3	37	c.5078	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505772	0.26949	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.50813	0.74;0.73;0.73;0.74	5.98	5.08	0.68730	.	0.692322	0.15249	N	0.272434	T	0.38665	0.1049	L	0.40543	1.245	0.31163	N	0.704124	B;B	0.23540	0.04;0.087	B;B	0.21546	0.016;0.035	T	0.25363	-1.0134	10	0.08381	T	0.77	.	16.0243	0.80532	0.135:0.865:0.0:0.0	.	1693;1690	Q8NFP9;Q5T321	NBEA_HUMAN;.	K	1693;1693;1690;1693;320	ENSP00000440951:T1693K;ENSP00000383295:T1693K;ENSP00000369271:T1690K;ENSP00000308534:T1693K	ENSP00000308534:T1693K	T	+	2	0	NBEA	34668151	0.020000	0.18652	0.010000	0.14722	0.898000	0.52572	2.782000	0.47758	2.843000	0.97960	0.585000	0.79938	ACA	NBEA	-	NULL		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35770151	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	0.026	A	A	35770151	C	A	35770151	3	1	153	1	0	0	0	0	1	0	0	0	10210	478	17	4	5200	4	NBEA	13	35770151	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2508816	35770151	79399727	901	26875										
SPG20	23111	genome.wustl.edu	37	chr13	36878517	36878517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcatcatttatctttcttCtttgcctcctttacttcctt	1	13	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:36878517C>T	ENST00000451493.1	-	9	2203	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	SPG20_ENST00000494062.2_Silent_p.K662K|SPG20_ENST00000438666.2_Silent_p.K662K|SPG20_ENST00000355182.4_Silent_p.K662K	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	662					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TATCTTTCTTCTTTGCCTCCT	0.388																																																	0													267	259	262					13																	36878517		2203	4300	6503	SO:0001819	synonymous_variant	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1986G>A	13.37:g.36878517C>T			O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.K662	ENST00000451493.1	37	c.1986	CCDS9356.1	13																																																																																			SPG20	-	NULL		0.388	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	C			36878517	-1	no_errors	ENST00000355182	ensembl	human	known	70_37	silent	SNP	0.304	T	T	36878517	C	T	36878517	2	4	153	1	0	0	0	0	0	0	0	1	15072	912	32	1		1	SPG20	13	36878517	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1108366	36878517	78291361	902	26876										
ZC3H13	23091	genome.wustl.edu	37	chr13	46543770	46543770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccaacatcatcctctttcTttttcttaattggtttcttt	2	10	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:46543770T>G	ENST00000242848.4	-	14	3257	c.2909A>C	c.(2908-2910)aAg>aCg	p.K970T	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K970T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	970	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATCCTCTTTCTTTTTCTTAAT	0.353																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													152	150	151					13																	46543770		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2909A>C	13.37:g.46543770T>G	ENSP00000242848:p.Lys970Thr		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K970T	ENST00000242848.4	37	c.2909		13	.	.	.	.	.	.	.	.	.	.	T	9.308	1.054909	0.19907	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.34472	2.35;1.36	5.78	4.59	0.56863	.	0.084143	0.51477	D	0.000096	T	0.35335	0.0928	M	0.65975	2.015	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.36845	0.086;0.234	T	0.19031	-1.0318	10	0.46703	T	0.11	.	11.8922	0.52635	0.0:0.0682:0.0:0.9318	.	970;970	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	T	970	ENSP00000242848:K970T;ENSP00000282007:K970T	ENSP00000242848:K970T	K	-	2	0	ZC3H13	45441771	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.245000	0.43133	1.120000	0.41904	0.533000	0.62120	AAG	ZC3H13	-	NULL		0.353	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	T	NM_015070		46543770	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46543770	T	G	46543770	3	3	153	1	0	0	0	0	1	0	0	0	17595	1609	56	5	1801	5	ZC3H13	13	46543770	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	9665253	46543770	68626108	903	26877										
LRCH1	23143	genome.wustl.edu	37	chr13	47243273	47243273	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagaagagataggtcagctCaaacagttaatggagctggt	12	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:47243273C>T	ENST00000389798.3	+	3	758	c.561C>T	c.(559-561)ctC>ctT	p.L187L	LRCH1_ENST00000389797.3_Silent_p.L187L|LRCH1_ENST00000311191.6_Silent_p.L187L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	187										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TAGGTCAGCTCAAACAGTTAA	0.433																																																	0													144	128	134					13																	47243273		2203	4300	6503	SO:0001819	synonymous_variant	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.561C>T	13.37:g.47243273C>T			B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L187	ENST00000389798.3	37	c.561	CCDS31972.1	13																																																																																			LRCH1	-	smart_Leu-rich_rpt_typical-subtyp		0.433	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	C	NM_015116		47243273	1	no_errors	ENST00000389798	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47243273	C	T	47243273	2	4	153	1	0	0	0	0	0	0	0	1	8955	813	29	1		1	LRCH1	13	47243273	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	699503	47243273	67926605	904	26878										
RCBTB2	1102	genome.wustl.edu	37	chr13	49075957	49075957	+	Missense_Mutation	SNP	C	C	G													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtctgcagtgtccgggttgtCaaattccctcttcagtgact							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:49075957C>G	ENST00000344532.3	-	12	1588	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D115H|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D394H	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	389					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCCGGGTTGTCAAATTCCCTC	0.413																																																	0													102	89	94					13																	49075957		2203	4300	6503	SO:0001583	missense	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1165G>C	13.37:g.49075957C>G	ENSP00000345144:p.Asp389His		B2RDW8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D394H	ENST00000344532.3	37	c.1180	CCDS9411.1	13	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450935	0.63290	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.68765	-0.35;-0.35;-0.35	5.3	5.3	0.74995	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	M	0.77820	2.39	0.80722	D	1	B;B;D;B	0.89917	0.376;0.137;1.0;0.148	B;B;D;B	0.91635	0.33;0.169;0.999;0.333	D	0.84857	0.0817	10	0.87932	D	0	.	19.3241	0.94254	0.0:1.0:0.0:0.0	.	115;394;341;389	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	H	389;341;394;394;115	ENSP00000345144:D389H;ENSP00000389910:D394H;ENSP00000443862:D115H	ENSP00000345144:D389H	D	-	1	0	RCBTB2	47973958	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.439000	0.80444	2.629000	0.89072	0.563000	0.77884	GAC	RCBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold		0.413	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	C	NM_001268		49075957	-1	no_errors	ENST00000430805	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49075957	C	G	49075957	3	3	153	1	0	0	0	0	1	0	0	0	13202	826	29	1	506	1	RCBTB2	13	49075957	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1832684	49075957	66093921	905	26879	159	2								
RCBTB2	1102	genome.wustl.edu	37	chr13	49075967	49075967	+	Silent	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccgggttgtcaaattccctCttcagtgactcagccactgt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:49075967C>T	ENST00000344532.3	-	12	1578	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	RCBTB2_ENST00000544492.1_Silent_p.K111K|RCBTB2_ENST00000430805.2_Silent_p.K390K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	385					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAAATTCCCTCTTCAGTGACT	0.433																																																	0													94	82	86					13																	49075967		2203	4300	6503	SO:0001819	synonymous_variant	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1155G>A	13.37:g.49075967C>T			B2RDW8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.K390	ENST00000344532.3	37	c.1170	CCDS9411.1	13																																																																																			RCBTB2	-	superfamily_BTB/POZ_fold		0.433	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	C	NM_001268		49075967	-1	no_errors	ENST00000430805	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49075967	C	T	49075967	2	4	153	1	0	0	0	0	0	0	0	1	13202	912	32	1		1	RCBTB2	13	49075967	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10	49075967	66093911	906	26880	159	2								
PCDH20	64881	genome.wustl.edu	37	chr13	61987593	61987593	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccgggacccacaccgagatCtgggaaacagggaactgcgg	14	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:61987593C>A	ENST00000409186.1	-	5	2744	c.639G>T	c.(637-639)caG>caT	p.Q213H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q213H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACCGAGATCTGGGAAACAG	0.527																																																	0													110	99	103					13																	61987593		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.639G>T	13.37:g.61987593C>A	ENSP00000386653:p.Gln213His		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q213H	ENST00000409186.1	37	c.639	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	c	13.61	2.288641	0.40494	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.67865	-0.29;-0.29	5.76	-4.44	0.03557	.	0.303615	0.28549	N	0.014942	T	0.41743	0.1172	N	0.10916	0.065	0.27608	N	0.94876	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.54805	T	0.06	.	12.5375	0.56150	0.0:0.7324:0.0778:0.1897	.	213	A8K1K9	.	H	213	ENSP00000387250:Q213H;ENSP00000386653:Q213H	ENSP00000386653:Q213H	Q	-	3	2	PCDH20	60885594	0.174000	0.23070	0.275000	0.24674	0.932000	0.56968	-0.391000	0.07323	-1.268000	0.02439	-0.810000	0.03169	CAG	PCDH20	-	superfamily_Cadherin-like,pfscan_Cadherin		0.527	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	C	NM_022843		61987593	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense	SNP	0.975	A	A	61987593	C	A	61987593	3	1	153	1	0	0	0	0	1	0	0	0	11539	912	32	3	2220	3	PCDH20	13	61987593	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12911626	61987593	53182285	907	26881										
C13orf34	79866	genome.wustl.edu	37	chr13	73319333	73319333	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagtgtaggagccccttgcaGacaccaagttcggtgagaag	13	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73319333G>A	ENST00000390667.5	+	8	823	c.726G>A	c.(724-726)caG>caA	p.Q242Q	BORA_ENST00000377815.3_Silent_p.Q172Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	242	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GCCCCTTGCAGACACCAAGTT	0.428																																																	0													57	54	55					13																	73319333		1847	4085	5932	SO:0001819	synonymous_variant	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.726G>A	13.37:g.73319333G>A			B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	prints_Aurora_borealis_protien	p.Q242	ENST00000390667.5	37	c.726	CCDS9446.1	13																																																																																			BORA	-	NULL		0.428	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	G	NM_024808		73319333	1	no_errors	ENST00000390667	ensembl	human	known	70_37	silent	SNP	0.998	A	A	73319333	G	A	73319333	2	1	153	1	0	0	0	0	0	0	0	1	1732	933	33	1		1	C13orf34	13	73319333	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	11331740	73319333	41850545	908	26882										
KLF5	688	genome.wustl.edu	37	chr13	73636341	73636341	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacaccagaccgcagctccaGaggtgaacaatattttcatc	7	13	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73636341G>A	ENST00000377687.4	+	2	1140	c.604G>A	c.(604-606)Gag>Aag	p.E202K	KLF5_ENST00000539231.1_Missense_Mutation_p.E111K|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	202					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CGCAGCTCCAGAGGTGAACAA	0.532																																																	0													72	74	74					13																	73636341		2203	4300	6503	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.604G>A	13.37:g.73636341G>A	ENSP00000366915:p.Glu202Lys		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E202K	ENST00000377687.4	37	c.604	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569129	0.45798	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.06849	3.41;3.25	5.94	5.09	0.68999	.	0.313586	0.34268	N	0.004105	T	0.07413	0.0187	N	0.22421	0.69	0.33626	D	0.605457	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.36615	T	0.2	.	15.0551	0.71908	0.068:0.0:0.932:0.0	.	202	Q13887	KLF5_HUMAN	K	111;202;182	ENSP00000440407:E111K;ENSP00000366915:E202K	ENSP00000366915:E202K	E	+	1	0	KLF5	72534342	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	5.847000	0.69451	1.513000	0.48852	0.561000	0.74099	GAG	KLF5	-	NULL		0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73636341	1	no_errors	ENST00000377687	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73636341	G	A	73636341	3	1	153	1	0	0	0	0	1	0	0	0	8369	943	33	1	610	1	KLF5	13	73636341	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	317008	73636341	41533537	909	26883										
KLF5	688	genome.wustl.edu	37	chr13	73636562	73636562	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgttccgcagactgcagtGaaacaattccagggcatgcc	11	12	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73636562G>A	ENST00000377687.4	+	2	1361	c.825G>A	c.(823-825)gtG>gtA	p.V275V	KLF5_ENST00000539231.1_Silent_p.V184V|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	275					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGACTGCAGTGAAACAATTCC	0.507																																																	0													105	95	98					13																	73636562		2203	4300	6503	SO:0001819	synonymous_variant	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.825G>A	13.37:g.73636562G>A			L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V275	ENST00000377687.4	37	c.825	CCDS9448.1	13																																																																																			KLF5	-	NULL		0.507	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73636562	1	no_errors	ENST00000377687	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73636562	G	A	73636562	2	1	153	1	0	0	0	0	0	0	0	1	8369	1277	45	1		1	KLF5	13	73636562	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	221	73636562	41533316	910	26884										
KLF5	688	genome.wustl.edu	37	chr13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggaggttcgcgcgatcggatGagctgacccgccactaccgg	15	13	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73649905G>A	ENST00000377687.4	+	4	1791	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KLF5_ENST00000539231.1_Missense_Mutation_p.E328K	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592																																																	2	Substitution - Missense(2)	lung(2)											61	60	61					13																	73649905		2203	4300	6503	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1255G>A	13.37:g.73649905G>A	ENSP00000366915:p.Glu419Lys		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E419K	ENST00000377687.4	37	c.1255	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.436306	0.96168	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.51071	0.72;0.72	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	N	0.17901	0.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62338	-0.6875	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	419	Q13887	KLF5_HUMAN	K	328;419;399	ENSP00000440407:E328K;ENSP00000366915:E419K	ENSP00000366915:E419K	E	+	1	0	KLF5	72547906	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAG	KLF5	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73649905	1	no_errors	ENST00000377687	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73649905	G	A	73649905	3	1	153	1	0	0	0	0	1	0	0	0	8369	1291	45	1	1269	1	KLF5	13	73649905	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	13343	73649905	41519973	911	26885										
MYCBP2	23077	genome.wustl.edu	37	chr13	77633672	77633672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actcacctggcaatctgcatCagaacaaacactgccaacag	6	14	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:77633672C>G	ENST00000544440.2	-	77	13029	c.13012G>C	c.(13012-13014)Gat>Cat	p.D4338H	MYCBP2_ENST00000407578.2_Missense_Mutation_p.D4376H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D4338H					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAATCTGCATCAGAACAAACA	0.478																																																	0													174	150	158					13																	77633672		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13012G>C	13.37:g.77633672C>G	ENSP00000444596:p.Asp4338His			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D4376H	ENST00000544440.2	37	c.13126		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545261|4.545261	0.86022|0.86022	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.31769|.	1.48;1.48;1.48|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68146|.	0.2969|.	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77557|.	0.99|.	T|.	0.64360|.	-0.6426|.	10|.	0.87932|.	D|.	0|.	.|.	17.252|17.252	0.87045|0.87045	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4338|.	O75592|.	MYCB2_HUMAN|.	H|S	4338;4376;4338|758	ENSP00000349892:D4338H;ENSP00000384288:D4376H;ENSP00000444596:D4338H|.	ENSP00000349892:D4338H|.	D|X	-|-	1|2	0|2	MYCBP2|MYCBP2	76531673|76531673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.290000|7.290000	0.78711|0.78711	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAT|TGA	MYCBP2	-	NULL		0.478	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77633672	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77633672	C	G	77633672	3	3	153	1	0	0	0	0	1	0	0	0	10041	826	29	1	938	1	MYCBP2	13	77633672	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3983767	77633672	37536206	912	26886										
MYCBP2	23077	genome.wustl.edu	37	chr13	77754359	77754359	+	Missense_Mutation	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggagaagagttcattttctCtcctcaggctgttcctgact							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:77754359C>T	ENST00000544440.2	-	34	4939	c.4922G>A	c.(4921-4923)aGa>aAa	p.R1641K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1679K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1641K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATTTTCTCTCCTCAGGCT	0.498																																																	0													181	172	175					13																	77754359		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4922G>A	13.37:g.77754359C>T	ENSP00000444596:p.Arg1641Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R1679K	ENST00000544440.2	37	c.5036		13	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924738	0.52653	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27720	1.65;1.65;1.65	5.67	5.67	0.87782	.	0.061053	0.64402	D	0.000006	T	0.15435	0.0372	N	0.03608	-0.345	0.36705	D	0.880354	B	0.02656	0.0	B	0.04013	0.001	T	0.14392	-1.0474	10	0.06494	T	0.89	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	1641	O75592	MYCB2_HUMAN	K	1641;1679;1641	ENSP00000349892:R1641K;ENSP00000384288:R1679K;ENSP00000444596:R1641K	ENSP00000349892:R1641K	R	-	2	0	MYCBP2	76652360	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.295000	0.59049	2.836000	0.97738	0.655000	0.94253	AGA	MYCBP2	-	superfamily_ARM-type_fold		0.498	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77754359	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77754359	C	T	77754359	3	4	153	1	0	0	0	0	1	0	0	0	10041	913	32	1	9200	1	MYCBP2	13	77754359	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	120687	77754359	37415519	913	26887	160	2								
MYCBP2	23077	genome.wustl.edu	37	chr13	77754364	77754364	+	Silent	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagagttcattttctctcctCaggctgttcctgactggtag							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:77754364C>T	ENST00000544440.2	-	34	4934	c.4917G>A	c.(4915-4917)ctG>ctA	p.L1639L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.L1677L|MYCBP2_ENST00000357337.6_Silent_p.L1639L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTCTCCTCAGGCTGTTCC	0.493																																																	0													182	174	176					13																	77754364		2203	4300	6503	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4917G>A	13.37:g.77754364C>T				Silent	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L1677	ENST00000544440.2	37	c.5031		13																																																																																			MYCBP2	-	superfamily_ARM-type_fold		0.493	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77754364	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	silent	SNP	0.971	T	T	77754364	C	T	77754364	2	4	153	1	0	0	0	0	0	0	0	1	10041	813	29	1		1	MYCBP2	13	77754364	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5	77754364	37415514	914	26888	160	2								
GPC6	10082	genome.wustl.edu	37	chr13	94958240	94958240	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatggttcttccaggtctttCagggatgtggtcagcccaaa	11	9	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:94958240C>T	ENST00000377047.4	+	6	1630	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	339					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCAGGTCTTTCAGGGATGTGG	0.438																																																	0													144	157	152					13																	94958240		2203	4300	6503	SO:0001587	stop_gained	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1015C>T	13.37:g.94958240C>T	ENSP00000366246:p.Gln339*		A8K279|Q96SG5|Q96SG8|Q9H1P4	Nonsense_Mutation	SNP	pfam_Glypican	p.Q339*	ENST00000377047.4	37	c.1015	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	43	10.007355	0.99315	.	.	ENSG00000183098	ENST00000377047	.	.	.	5.65	5.65	0.86999	.	0.073077	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	12.9937	0.58634	0.0:0.9261:0.0:0.0739	.	.	.	.	X	339	.	ENSP00000366246:Q339X	Q	+	1	0	GPC6	93756241	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.761000	0.68801	2.653000	0.90120	0.563000	0.77884	CAG	GPC6	-	pfam_Glypican		0.438	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	C	NM_005708		94958240	1	no_errors	ENST00000377047	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	94958240	C	T	94958240	4	4	153	1	0	0	0	0	0	1	0	0	6621	827	29	1	1037	1	GPC6	13	94958240	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	17203876	94958240	20211638	915	26889										
UGGT2	55757	genome.wustl.edu	37	chr13	96506724	96506724	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agttcttttagatcatgtctCacaatctaaataattaaaat	3	6	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:96506724C>T	ENST00000376747.3	-	35	4084	c.4014G>A	c.(4012-4014)gtG>gtA	p.V1338V		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1338	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GATCATGTCTCACAATCTAAA	0.343																																																	0													46	44	45					13																	96506724		2203	4300	6503	SO:0001819	synonymous_variant	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4014G>A	13.37:g.96506724C>T			A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.V1338	ENST00000376747.3	37	c.4014	CCDS9480.1	13																																																																																			UGGT2	-	pfam_Glyco_trans_8		0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	C	NM_020121		96506724	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	silent	SNP	1.000	T	T	96506724	C	T	96506724	2	4	153	1	0	0	0	0	0	0	0	1	16973	813	29	1		1	UGGT2	13	96506724	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1548484	96506724	18663154	916	26890										
DOCK9	23348	genome.wustl.edu	37	chr13	99567589	99567589	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaagcctatctaccttcgtGagagtcgccatttcgctttt	7	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:99567589G>A	ENST00000376460.1	-	8	966	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	DOCK9_ENST00000442173.1_Missense_Mutation_p.H296Y|DOCK9_ENST00000448493.2_Missense_Mutation_p.H308Y|DOCK9_ENST00000339416.2_Missense_Mutation_p.H297Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	297				S -> P (in Ref. 4; BAG54337). {ECO:0000305}.	blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H297fs*3(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTACCTTCGTGAGAGTCGCCA	0.448																																																	1	Deletion - Frameshift(1)	breast(1)											93	91	91					13																	99567589		2111	4238	6349	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.886C>T	13.37:g.99567589G>A	ENSP00000365643:p.His296Tyr		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H297Y	ENST00000376460.1	37	c.889	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256953	0.59321	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	M	0.63428	1.95	0.80722	D	1	B;P;B;B;P	0.38420	0.003;0.63;0.182;0.02;0.624	B;B;B;B;P	0.45071	0.008;0.323;0.254;0.078;0.468	T	0.16129	-1.0413	9	.	.	.	.	17.9165	0.88953	0.0:0.0:1.0:0.0	.	297;296;296;296;297	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	Y	296;297;297;297;296;297;308;296	ENSP00000365643:H296Y;ENSP00000341086:H297Y;ENSP00000401958:H308Y;ENSP00000406883:H296Y	.	H	-	1	0	DOCK9	98365590	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	9.392000	0.97252	2.242000	0.73789	0.650000	0.86243	CAC	DOCK9	-	NULL		0.448	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	G	NM_015296		99567589	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99567589	G	A	99567589	3	1	153	1	0	0	0	0	1	0	0	0	4704	1290	45	1	5577	1	DOCK9	13	99567589	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3060865	99567589	15602289	917	26891										
MYO16	23026	genome.wustl.edu	37	chr13	109772765	109772765	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tactggcatgctgaccaactCaatgatttgtgcctacagtt	8	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:109772765C>G	ENST00000357550.2	+	28	3461	c.3420C>G	c.(3418-3420)ctC>ctG	p.L1140L	MYO16_ENST00000457511.2_Silent_p.L652L|MYO16_ENST00000356711.2_Silent_p.L1140L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGACCAACTCAATGATTTGT	0.348																																																	0													124	118	120					13																	109772765		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3420C>G	13.37:g.109772765C>G				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1140	ENST00000357550.2	37	c.3420	CCDS32008.1	13																																																																																			MYO16	-	smart_Myosin_head_motor_dom		0.348	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109772765	1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.807	G	G	109772765	C	G	109772765	2	3	153	1	0	0	0	0	0	0	0	1	10087	813	29	1		1	MYO16	13	109772765	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10205176	109772765	5397113	918	26892										
COL4A1	1282	genome.wustl.edu	37	chr13	110822996	110822996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgtccctggggccccggagGacccatgaatccttgctctc	11	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:110822996G>A	ENST00000375820.4	-	42	3761	c.3640C>T	c.(3640-3642)Cct>Tct	p.P1214S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1214	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCCCCGGAGGACCCATGAAT	0.632																																																	0													30	35	33					13																	110822996		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3640C>T	13.37:g.110822996G>A	ENSP00000364979:p.Pro1214Ser		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1214S	ENST00000375820.4	37	c.3640	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445569	0.43429	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.92752	-3.1	5.21	5.21	0.72293	.	0.408227	0.26673	N	0.023087	D	0.92437	0.7599	L	0.45698	1.435	0.80722	D	1	D	0.60160	0.987	D	0.64877	0.93	D	0.88842	0.3313	10	0.08837	T	0.75	.	12.2127	0.54389	0.0782:0.0:0.9218:0.0	.	1214	P02462	CO4A1_HUMAN	S	857;1214;863	ENSP00000364979:P1214S	ENSP00000364973:P857S	P	-	1	0	COL4A1	109620997	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.147000	0.50639	2.433000	0.82419	0.650000	0.86243	CCT	COL4A1	-	pfam_Collagen		0.632	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	G			110822996	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	missense	SNP	0.973	A	A	110822996	G	A	110822996	3	1	153	1	0	0	0	0	1	0	0	0	3694	1174	41	1	1413	1	COL4A1	13	110822996	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1050231	110822996	4346882	919	26893										
COL4A2	1284	genome.wustl.edu	37	chr13	111088663	111088663	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggattccatcagacaccctCcaccccatcatcgcgcccac	6	20	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111088663C>T	ENST00000360467.5	+	13	1080	c.774C>T	c.(772-774)ctC>ctT	p.L258L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	258	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGACACCCTCCACCCCATCA	0.458																																																	0													91	96	94					13																	111088663		1947	4129	6076	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.774C>T	13.37:g.111088663C>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L258	ENST00000360467.5	37	c.774	CCDS41907.1	13																																																																																			COL4A2	-	NULL		0.458	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		111088663	1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.000	T	T	111088663	C	T	111088663	2	4	153	1	0	0	0	0	0	0	0	1	3695	842	30	1		1	COL4A2	13	111088663	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	265667	111088663	4081215	920	26894										
RAB20	55647	genome.wustl.edu	37	chr13	111176517	111176517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgccccccggcagtacatgGagcccaggccgtggaactgc	13	17	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111176517G>A	ENST00000267328.3	-	2	413	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	67					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GCAGTACATGGAGCCCAGGCC	0.612																																																	0													31	34	33					13																	111176517		2203	4298	6501	SO:0001583	missense	55647			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"RAB, member RAS oncogene"	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.200C>T	13.37:g.111176517G>A	ENSP00000267328:p.Ser67Phe		Q5T9X5|Q9NX49	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S67F	ENST00000267328.3	37	c.200	CCDS9512.1	13	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577862	0.86645	.	.	ENSG00000139832	ENST00000267328	T	0.78246	-1.16	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89968	0.4091	10	0.87932	D	0	-14.7547	18.4999	0.90877	0.0:0.0:1.0:0.0	.	67	Q9NX57	RAB20_HUMAN	F	67	ENSP00000267328:S67F	ENSP00000267328:S67F	S	-	2	0	RAB20	109974518	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.239000	0.95389	2.364000	0.80123	0.561000	0.74099	TCC	RAB20	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.612	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	G	NM_017817		111176517	-1	no_errors	ENST00000267328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111176517	G	A	111176517	3	1	153	1	0	0	0	0	1	0	0	0	12937	1174	41	1	508	1	RAB20	13	111176517	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	87854	111176517	3993361	921	26895										
CARS2	79587	genome.wustl.edu	37	chr13	111299498	111299498	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgcaggccagctgccccttCatgtaggcacgtgcgtcctc	11	17	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111299498C>T	ENST00000257347.4	-	11	1206	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	381					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCTGCCCCTTCATGTAGGCAC	0.657																																																	0													50	40	43					13																	111299498		2203	4300	6503	SO:0001583	missense	79587			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1143G>A	13.37:g.111299498C>T	ENSP00000257347:p.Met381Ile		Q8NI84|Q96IV4	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.M381I	ENST00000257347.4	37	c.1143	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543774	0.13312	.	.	ENSG00000134905	ENST00000542993;ENST00000257347	T	0.27720	1.65	5.09	2.25	0.28309	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.278830	0.42821	N	0.000651	T	0.20251	0.0487	L	0.45228	1.405	0.31115	N	0.709512	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.26408	T	0.33	-19.0603	4.0042	0.09593	0.1659:0.5828:0.1605:0.0908	.	381	Q9HA77	SYCM_HUMAN	I	119;381	ENSP00000257347:M381I	ENSP00000257347:M381I	M	-	3	0	CARS2	110097499	0.892000	0.30473	0.293000	0.24932	0.524000	0.34500	0.217000	0.17603	0.124000	0.18369	0.561000	0.74099	ATG	CARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase		0.657	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3	C	NM_024537		111299498	-1	no_errors	ENST00000257347	ensembl	human	known	70_37	missense	SNP	0.975	T	T	111299498	C	T	111299498	3	4	153	1	0	0	0	0	1	0	0	0	2663	826	29	1	571	1	CARS2	13	111299498	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	122981	111299498	3870380	922	26896										
MCF2L	23263	genome.wustl.edu	37	chr13	113742717	113742717	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagccagctgcaggcttgtaGaggtgaggctgtcttcaagc	14	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:113742717G>C	ENST00000375608.3	+	25	2913	c.2855G>C	c.(2854-2856)aGa>aCa	p.R952T	MCF2L_ENST00000434480.2_Missense_Mutation_p.R928T|MCF2L_ENST00000442652.2_Missense_Mutation_p.R952T|MCF2L_ENST00000375604.2_Missense_Mutation_p.R979T|MCF2L_ENST00000421756.1_Missense_Mutation_p.R926T|MCF2L_ENST00000375597.4_Missense_Mutation_p.R920T|MCF2L_ENST00000375601.3_Missense_Mutation_p.R926T|MCF2L_ENST00000423482.2_Missense_Mutation_p.R920T|MCF2L_ENST00000535094.2_Missense_Mutation_p.R922T|MCF2L_ENST00000397030.1_Missense_Mutation_p.R955T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	952					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGGCTTGTAGAGGTGAGGCT	0.542																																																	0													96	94	95					13																	113742717		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2855G>C	13.37:g.113742717G>C	ENSP00000364758:p.Arg952Thr		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R979T	ENST00000375608.3	37	c.2936		13	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.61|15.61|15.61	2.885493|2.885493|2.885493	0.51908|0.51908|0.51908	.|.|.	.|.|.	ENSG00000126217|ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017;ENST00000453297;ENST00000439475	.|T;T;T;T;T;T;T;T;T;T|.	.|0.17213|.	.|2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29|.	4.14|4.14|4.14	4.14|4.14|4.14	0.48551|0.48551|0.48551	.|Pleckstrin homology-type (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.74764|0.74764|.	0.3759|0.3759|.	M|M|M	0.76002|0.76002|0.76002	2.32|2.32|2.32	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|D;D;D;D;D|.	.|0.76494|.	.|0.999;0.999;0.999;0.999;0.999|.	.|D;D;D;D;D|.	.|0.73708|.	.|0.981;0.981;0.971;0.929;0.957|.	T|T|.	0.76860|0.76860|.	-0.2803|-0.2803|.	5|10|.	.|0.62326|.	.|D|.	.|0.03|.	.|.|.	16.4358|16.4358|16.4358	0.83874|0.83874|0.83874	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|920;922;979;920;952|.	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.|.;.;.;.;MCF2L_HUMAN|.	Q|T|Y	152;93|952;952;979;955;922;926;926;928;920;920;763|582;76;27	.|ENSP00000364758:R952T;ENSP00000401422:R952T;ENSP00000364754:R979T;ENSP00000380225:R955T;ENSP00000440374:R922T;ENSP00000397285:R926T;ENSP00000364751:R926T;ENSP00000407722:R928T;ENSP00000405639:R920T;ENSP00000364747:R920T|.	.|ENSP00000364747:R920T|.	E|R|X	+|+|+	1|2|3	0|0|2	MCF2L|MCF2L|MCF2L	112790718|112790718|112790718	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.653000|0.653000|0.653000	0.29593|0.29593|0.29593	0.042000|0.042000|0.042000	0.13812|0.13812|0.13812	8.666000|8.666000|8.666000	0.91149|0.91149|0.91149	1.863000|1.863000|1.863000	0.54032|0.54032|0.54032	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|AGA|TAG	MCF2L	-	NULL		0.542	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113742717	1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	0.998	C	C	113742717	G	C	113742717	3	2	153	1	0	0	0	0	1	0	0	0	9402	942	33	1	3125	1	MCF2L	13	113742717	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2443219	113742717	1427161	923	26897										
POTEM	641455	genome.wustl.edu	37	chr14	20002266	20002266	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctttaagcctttgtgactCttcctctgatgtcagcttta	6	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:20002266C>T	ENST00000551509.1	-	7	1207	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	386										endometrium(4)|kidney(1)|lung(4)	9						CTTTGTGACTCTTCCTCTGAT	0.303																																																	0																																										SO:0001583	missense	641455				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1156G>A	14.37:g.20002266C>T	ENSP00000452296:p.Glu386Lys			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E386K	ENST00000551509.1	37	c.1156	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830344	0.32329	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.28069	1.63	1.18	1.18	0.20946	.	.	.	.	.	T	0.17450	0.0419	L	0.32530	0.975	0.09310	N	1	B	0.32245	0.361	B	0.22880	0.042	T	0.14227	-1.0480	8	.	.	.	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	386	A6NI47	POTEM_HUMAN	K	386;471;386	ENSP00000452296:E386K	.	E	-	1	0	POTEM	19072266	0.199000	0.23386	0.104000	0.21259	0.594000	0.36715	0.685000	0.25378	0.955000	0.37878	0.184000	0.17185	GAG	POTEM	-	NULL		0.303	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	C	NM_001145442		20002266	-1	no_errors	ENST00000547848	ensembl	human	known	70_37	missense	SNP	0.152	T	T	20002266	C	T	20002266	3	4	153	1	0	0	0	0	1	0	0	0	12292	922	32	1	386	1	POTEM	14	20002266	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		20002266	87347274	924	26898										
RNASE1	6035	genome.wustl.edu	37	chr14	21269764	21269764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgctgctctgaccttaggtaGagtcctccacagaagcatca	9	13	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21269764G>C	ENST00000397967.4	-	2	970	c.464C>G	c.(463-465)tCt>tGt	p.S155C	RNASE1_ENST00000340900.3_Missense_Mutation_p.S155C|RNASE1_ENST00000412779.2_Missense_Mutation_p.S155C|RNASE1_ENST00000555698.1_Missense_Mutation_p.S115C|RNASE1_ENST00000397970.4_Missense_Mutation_p.S155C	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	155					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	ACCTTAGGTAGAGTCCTCCAC	0.537																																																	0													109	95	100					14																	21269764		2203	4300	6503	SO:0001583	missense	6035			BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"Ribonucleases, RNase A"	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.464C>G	14.37:g.21269764G>C	ENSP00000381057:p.Ser155Cys		B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.S155C	ENST00000397967.4	37	c.464	CCDS9559.1	14	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077588	0.36662	.	.	ENSG00000129538	ENST00000397967;ENST00000340900;ENST00000412779;ENST00000555698;ENST00000397970	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-0.96;-1.4	4.79	1.63	0.23807	.	1.532230	0.03871	N	0.275602	T	0.75561	0.3866	L	0.57536	1.79	0.09310	N	1	P	0.38129	0.619	B	0.35899	0.213	T	0.63314	-0.6665	10	0.87932	D	0	-4.1628	2.7799	0.05358	0.1037:0.1951:0.5249:0.1763	.	155	P07998	RNAS1_HUMAN	C	155;155;155;115;155	ENSP00000381057:S155C;ENSP00000344193:S155C;ENSP00000399493:S155C;ENSP00000451058:S115C;ENSP00000381060:S155C	ENSP00000344193:S155C	S	-	2	0	RNASE1	20339604	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.077000	0.11394	0.551000	0.29008	0.650000	0.86243	TCT	RNASE1	-	NULL		0.537	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE1	HGNC	protein_coding	OTTHUMT00000073791.3	G			21269764	-1	no_errors	ENST00000340900	ensembl	human	known	70_37	missense	SNP	0.000	C	C	21269764	G	C	21269764	3	2	153	1	0	0	0	0	1	0	0	0	13429	942	33	1	10	1	RNASE1	14	21269764	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1267498	21269764	86079776	925	26899										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21771580	21771580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgcctaacagtgcccacatCatggccagcaataccatgca	7	14	1	0	rs368948798		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21771580C>G	ENST00000400017.2	+	5	678	c.678C>G	c.(676-678)atC>atG	p.I226M	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I226M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I199M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I199M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	226					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GTGCCCACATCATGGCCAGCA	0.423																																																	0													68	65	66					14																	21771580		1933	4151	6084	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.678C>G	14.37:g.21771580C>G	ENSP00000382895:p.Ile226Met		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.I226M	ENST00000400017.2	37	c.678	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398599	0.11696	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.92	1.05	0.20165	.	1.052910	0.07376	N	0.886615	T	0.23611	0.0571	L	0.43152	1.355	0.09310	N	1	P	0.45902	0.868	B	0.39805	0.31	T	0.18935	-1.0321	10	0.59425	D	0.04	-0.024	3.1102	0.06356	0.1763:0.203:0.0:0.6207	.	226	Q96KN7	RPGR1_HUMAN	M	199;199;226;226	ENSP00000450445:I199M;ENSP00000451219:I199M;ENSP00000382895:I226M;ENSP00000206660:I226M	ENSP00000206660:I226M	I	+	3	3	RPGRIP1	20841420	0.090000	0.21635	0.000000	0.03702	0.151000	0.21798	0.136000	0.15974	0.020000	0.15106	-0.302000	0.09304	ATC	RPGRIP1	-	NULL		0.423	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21771580	1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	0.004	G	G	21771580	C	G	21771580	3	3	153	1	0	0	0	0	1	0	0	0	13579	816	29	1	696	1	RPGRIP1	14	21771580	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	501816	21771580	85577960	926	26900										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21789513	21789513	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accacattggaactagaaaaGaccagggacatgcttattct	8	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21789513G>C	ENST00000400017.2	+	12	1563	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.K163N|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.K521N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.K494N|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.K494N	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	521					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AACTAGAAAAGACCAGGGACA	0.458																																																	0													132	121	124					14																	21789513		1936	4152	6088	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1563G>C	14.37:g.21789513G>C	ENSP00000382895:p.Lys521Asn		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K521N	ENST00000400017.2	37	c.1563	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502851	0.64298	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933	D;D;D;D;D	0.90620	-2.49;-2.22;-2.15;-2.15;-2.7	5.12	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.93913	0.8052	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.92352	0.5890	10	0.56958	D	0.05	-31.5447	6.6707	0.23066	0.2909:0.0:0.7091:0.0	.	163;137;521	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	N	494;494;521;521;163	ENSP00000450445:K494N;ENSP00000451219:K494N;ENSP00000382895:K521N;ENSP00000206660:K521N;ENSP00000372391:K163N	ENSP00000206660:K521N	K	+	3	2	RPGRIP1	20859353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.783000	0.55409	0.828000	0.34709	0.650000	0.86243	AAG	RPGRIP1	-	NULL		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21789513	1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21789513	G	C	21789513	3	2	153	1	0	0	0	0	1	0	0	0	13579	933	33	1	1609	1	RPGRIP1	14	21789513	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	17933	21789513	85560027	927	26901										
TOX4	9878	genome.wustl.edu	37	chr14	21961402	21961402	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctatctgtgagatgatcacaGatgtagttcctgaggtgagc	12	7	2	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21961402G>C	ENST00000405508.1	+	8	1903	c.1627G>C	c.(1627-1629)Gat>Cat	p.D543H	TOX4_ENST00000262709.3_Missense_Mutation_p.D543H|TOX4_ENST00000448790.2_Missense_Mutation_p.D520H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	543						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GATGATCACAGATGTAGTTCC	0.448																																																	0													66	65	65					14																	21961402		2203	4300	6503	SO:0001583	missense	9878			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1627G>C	14.37:g.21961402G>C	ENSP00000385102:p.Asp543His		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D543H	ENST00000405508.1	37	c.1627	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524636	0.64747	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12774	2.65;2.65;2.66	4.99	4.99	0.66335	.	0.311995	0.33401	N	0.004950	T	0.20618	0.0496	N	0.22421	0.69	0.49483	D	0.999795	P;P	0.52061	0.95;0.95	P;P	0.55615	0.78;0.78	T	0.01102	-1.1451	10	0.87932	D	0	.	17.5446	0.87857	0.0:0.0:1.0:0.0	.	520;543	B4DPY8;O94842	.;TOX4_HUMAN	H	543;543;520;471	ENSP00000385102:D543H;ENSP00000262709:D543H;ENSP00000393080:D520H	ENSP00000262709:D543H	D	+	1	0	TOX4	21031242	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.414000	0.73318	2.750000	0.94351	0.455000	0.32223	GAT	TOX4	-	NULL		0.448	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	G	NM_014828		21961402	1	no_errors	ENST00000262709	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21961402	G	C	21961402	3	2	153	1	0	0	0	0	1	0	0	0	16411	942	33	1	1653	1	TOX4	14	21961402	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	171889	21961402	85388138	928	26902										
HAUS4	54930	genome.wustl.edu	37	chr14	23416876	23416876	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cattgatgcggtctagctcgGattgagtcttcagccggtgt	13	9	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23416876G>C	ENST00000206474.7	-	8	1025	c.773C>G	c.(772-774)tCc>tGc	p.S258C	HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Missense_Mutation_p.S258C|HAUS4_ENST00000555986.1_Missense_Mutation_p.S213C|HAUS4_ENST00000397409.4_Missense_Mutation_p.S132C|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.S213C|HAUS4_ENST00000490506.1_Missense_Mutation_p.S134C|HAUS4_ENST00000347758.2_Missense_Mutation_p.S132C|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.I87M|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555367.1_Missense_Mutation_p.S213C			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	258					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GTCTAGCTCGGATTGAGTCTT	0.522																																																	0													100	92	94					14																	23416876		2203	4300	6503	SO:0001583	missense	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.773C>G	14.37:g.23416876G>C	ENSP00000206474:p.Ser258Cys		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.S258C	ENST00000206474.7	37	c.773	CCDS9580.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187256	0.78789	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.25	5.25	0.73442	.	0.176511	0.50627	D	0.000105	T	0.74627	0.3741	L	0.50333	1.59	0.39960	D	0.974653	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.992;0.997	T	0.77590	-0.2531	9	0.66056	D	0.02	-7.6098	15.813	0.78578	0.0:0.0:1.0:0.0	.	213;132;258	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	C	258;134;258;213;132;132;213;213;258;35	.	ENSP00000206474:S258C	S	-	2	0	RP11-298I3.5;HAUS4	22486716	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	4.041000	0.57339	2.463000	0.83235	0.585000	0.79938	TCC	HAUS4	-	NULL		0.522	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	G			23416876	-1	no_errors	ENST00000206474	ensembl	human	known	70_37	missense	SNP	0.994	C	C	23416876	G	C	23416876	3	2	153	1	0	0	0	0	1	0	0	0	6988	1174	41	1	330	1	HAUS4	14	23416876	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1455474	23416876	83932664	929	26903										
JUB	84962	genome.wustl.edu	37	chr14	23445862	23445862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acccttactcaccagataatCttcctcacagtacacagagc	4	15	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23445862C>G	ENST00000262713.2	-	3	1543	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	AJUBA_ENST00000361265.4_Missense_Mutation_p.D390H|AJUBA_ENST00000397388.3_5'UTR|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	390	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ACCAGATAATCTTCCTCACAG	0.498																																																	0													150	137	142					14																	23445862		2203	4300	6503	SO:0001583	missense	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1168G>C	14.37:g.23445862C>G	ENSP00000262713:p.Asp390His		A8MX18|D3DS37	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D390H	ENST00000262713.2	37	c.1168	CCDS9581.1	14	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545981	0.86022	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.88975	-2.45;-2.45	5.74	5.74	0.90152	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	L	0.41824	1.3	0.80722	D	1	P	0.41848	0.763	P	0.48304	0.573	D	0.88313	0.2957	10	0.45353	T	0.12	.	17.4218	0.87517	0.0:1.0:0.0:0.0	.	390	Q96IF1	JUB_HUMAN	H	390	ENSP00000262713:D390H;ENSP00000354491:D390H	ENSP00000262713:D390H	D	-	1	0	JUB	22515702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.111000	0.77077	2.715000	0.92844	0.655000	0.94253	GAT	AJUBA	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.498	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	C			23445862	-1	no_errors	ENST00000262713	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23445862	C	G	23445862	3	3	153	1	0	0	0	0	1	0	0	0	7988	913	32	1	472	1	JUB	14	23445862	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	28986	23445862	83903678	930	26904										
JUB	84962	genome.wustl.edu	37	chr14	23451250	23451250	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgcctcaaaggagccgcgctGatttcgctcagcgtccaggg	13	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23451250G>A	ENST00000262713.2	-	1	601	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q76*|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	76	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GAGCCGCGCTGATTTCGCTCA	0.687																																																	0													16	19	18					14																	23451250		2197	4291	6488	SO:0001587	stop_gained	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.226C>T	14.37:g.23451250G>A	ENSP00000262713:p.Gln76*		A8MX18|D3DS37	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q76*	ENST00000262713.2	37	c.226	CCDS9581.1	14	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428651	0.43122	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	4.87	3.01	0.34805	.	1.665720	0.03430	N	0.207694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	8.0601	0.30627	0.091:0.1674:0.7416:0.0	.	.	.	.	X	76	.	ENSP00000262713:Q76X	Q	-	1	0	JUB	22521090	1.000000	0.71417	0.913000	0.36048	0.033000	0.12548	2.131000	0.42074	0.627000	0.30340	-0.258000	0.10820	CAG	AJUBA	-	NULL		0.687	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	G			23451250	-1	no_errors	ENST00000262713	ensembl	human	known	70_37	nonsense	SNP	0.141	A	A	23451250	G	A	23451250	4	1	153	1	0	0	0	0	0	1	0	0	7988	1299	45	1	1422	1	JUB	14	23451250	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5388	23451250	83898290	931	26905										
PABPN1	8106	genome.wustl.edu	37	chr14	23793450	23793450	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caactacaacagctcccgctCtcgattctacagtggtttta	6	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23793450C>G	ENST00000216727.4	+	6	1014	c.833C>G	c.(832-834)tCt>tGt	p.S278C	PABPN1_ENST00000556821.1_Missense_Mutation_p.S150C|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S305C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S305C|PABPN1_ENST00000557702.1_Missense_Mutation_p.S150C|PABPN1_ENST00000397276.2_Missense_Mutation_p.S278C	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	278	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCTCCCGCTCTCGATTCTAC	0.602																																																	0													83	84	83					14																	23793450		2203	4300	6503	SO:0001583	missense	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.833C>G	14.37:g.23793450C>G	ENSP00000216727:p.Ser278Cys		D3DS49|O43484	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S278C	ENST00000216727.4	37	c.833	CCDS9592.1	14	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974399	0.34848	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.58652	2.83;2.83;0.32;0.77;2.15;2.15	5.47	5.47	0.80525	.	0.254028	0.39341	N	0.001387	T	0.65428	0.2690	L	0.29908	0.895	0.41231	D	0.986578	B;D;B	0.76494	0.176;0.999;0.164	B;D;B	0.66847	0.017;0.947;0.092	T	0.63817	-0.6551	10	0.36615	T	0.2	-22.1732	18.1036	0.89513	0.0:1.0:0.0:0.0	.	278;278;305	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	C	305;305;278;278;150;150	ENSP00000451320:S305C;ENSP00000452479:S305C;ENSP00000216727:S278C;ENSP00000380446:S278C;ENSP00000451970:S150C;ENSP00000450724:S150C	ENSP00000216727:S278C	S	+	2	0	PABPN1;RP11-124D2.2	22863290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.313000	0.59160	2.581000	0.87130	0.655000	0.94253	TCT	PABPN1	-	NULL		0.602	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	HGNC	protein_coding	OTTHUMT00000071767.4	C	NM_004643		23793450	1	no_errors	ENST00000216727	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23793450	C	G	23793450	3	3	153	1	0	0	0	0	1	0	0	0	11392	913	32	1	855	1	PABPN1	14	23793450	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	342200	23793450	83556090	932	26906										
MYH7	4625	genome.wustl.edu	37	chr14	23884243	23884243	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgcgccgctcgctcttcctCatgcccttcaccgactctgc	7	19	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23884243C>G	ENST00000355349.3	-	37	5682	c.5520G>C	c.(5518-5520)atG>atC	p.M1840I	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1840					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCTCTTCCTCATGCCCTTCA	0.642																																																	0													123	122	122					14																	23884243		2203	4298	6501	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5520G>C	14.37:g.23884243C>G	ENSP00000347507:p.Met1840Ile		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1840I	ENST00000355349.3	37	c.5520	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594867	0.28445	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.76839	-1.05	5.42	5.42	0.78866	Myosin tail (1);	.	.	.	.	T	0.62624	0.2443	N	0.11560	0.145	0.36874	D	0.889057	B	0.02656	0.0	B	0.09377	0.004	T	0.60796	-0.7192	9	0.32370	T	0.25	.	16.4302	0.83840	0.0:0.8691:0.1309:0.0	.	1840	P12883	MYH7_HUMAN	I	1840;1845	ENSP00000347507:M1840I	ENSP00000347507:M1840I	M	-	3	0	MYH7	22954083	0.983000	0.35010	1.000000	0.80357	0.968000	0.65278	0.441000	0.21611	2.826000	0.97356	0.563000	0.77884	ATG	MYH7	-	pfam_Myosin_tail		0.642	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23884243	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23884243	C	G	23884243	3	3	153	1	0	0	0	0	1	0	0	0	10062	826	29	1	303	1	MYH7	14	23884243	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	90793	23884243	83465297	933	26907										
NYNRIN	57523	genome.wustl.edu	37	chr14	24868463	24868463	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggggcagccatgctcctgtCtgggggcgatcctccggcgc	16	15	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:24868463C>G	ENST00000382554.3	+	2	329	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	4					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATGCTCCTGTCTGGGGGCGAT	0.682																																																	0													26	31	29					14																	24868463		1949	4137	6086	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.11C>G	14.37:g.24868463C>G	ENSP00000371994:p.Ser4Cys		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.S4C	ENST00000382554.3	37	c.11	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309038	0.23821	.	.	ENSG00000205978	ENST00000382554	T	0.12672	2.66	3.6	2.7	0.31948	.	0.604873	0.11297	U	0.578669	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.37780	0.258	T	0.21621	-1.0240	10	0.72032	D	0.01	.	6.6124	0.22759	0.2052:0.5956:0.1992:0.0	.	4	Q9P2P1	NYNRI_HUMAN	C	4	ENSP00000371994:S4C	ENSP00000371994:S4C	S	+	2	0	NYNRIN	23938303	0.000000	0.05858	0.712000	0.30502	0.397000	0.30659	-0.013000	0.12678	1.058000	0.40530	0.491000	0.48974	TCT	NYNRIN	-	NULL		0.682	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24868463	1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.315	G	G	24868463	C	G	24868463	3	3	153	1	0	0	0	0	1	0	0	0	10820	913	32	1	13	1	NYNRIN	14	24868463	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	984220	24868463	82481077	934	26908										
ARHGAP5	394	genome.wustl.edu	37	chr14	32619107	32619107	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgttaatttttgtcttgtaGatcataatatcaatctagtg	6	4	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:32619107G>C	ENST00000345122.3	+	5	4258		c.e5-1		ARHGAP5_ENST00000556611.1_Splice_Site|ARHGAP5_ENST00000432921.1_Splice_Site|ARHGAP5_ENST00000433497.1_Splice_Site|ARHGAP5_ENST00000396582.2_Splice_Site|ARHGAP5_ENST00000539826.2_Splice_Site	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5						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)			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)		ttGTCTTGTAGATCATAATAT	0.294																																					NSCLC(9;77 350 3443 29227 41353)												0													27	25	26					14																	32619107		2198	4284	6482	SO:0001630	splice_region_variant	394			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.3944-1G>C	14.37:g.32619107G>C			A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Splice_Site	SNP	-	e4-1	ENST00000345122.3	37	c.3944-1	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374854	0.42105	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP5	31688858	1.000000	0.71417	0.999000	0.59377	0.240000	0.25518	9.624000	0.98398	2.517000	0.84864	0.561000	0.74099	.	ARHGAP5	-	-		0.294	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	G	NM_001030055	Intron	32619107	1	no_errors	ENST00000345122	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	32619107	G	C	32619107	5	2	153	1	0	0	0	0	0	0	1	0	886	956	33	1	3957	1	ARHGAP5	14	32619107	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7750644	32619107	74730433	935	26909										
SOS2	6655	genome.wustl.edu	37	chr14	50605450	50605450	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaatctttccctttctttttTaaaaaatcattattcccttc	0	10	3	0	rs532833599		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:50605450T>A	ENST00000216373.5	-	18	3112	c.2838A>T	c.(2836-2838)ttA>ttT	p.L946F	SOS2_ENST00000543680.1_Missense_Mutation_p.L913F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	946	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L946F(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTTTCTTTTTTAAAAAATCAT	0.264													T|||	1	0.000199681	0	0	5008	,	,		13030	0.001		0	False		,,,				2504	0																2	Substitution - Missense(2)	large_intestine(2)											42	41	41					14																	50605450		2199	4296	6495	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2838A>T	14.37:g.50605450T>A	ENSP00000216373:p.Leu946Phe		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L946F	ENST00000216373.5	37	c.2838	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618782	0.66787	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.35605	1.3;1.3	5.6	3.14	0.36123	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.84846	2.72	0.58432	D	0.999994	P;P	0.50272	0.933;0.86	P;P	0.57548	0.823;0.583	T	0.53809	-0.8386	10	0.87932	D	0	.	3.6215	0.08097	0.2755:0.1915:0.0:0.533	.	913;946	B7ZKT6;Q07890	.;SOS2_HUMAN	F	946;913	ENSP00000216373:L946F;ENSP00000445328:L913F	ENSP00000216373:L946F	L	-	3	2	SOS2	49675200	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	0.134000	0.15932	0.969000	0.38237	0.533000	0.62120	TTA	SOS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.264	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	T			50605450	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50605450	T	A	50605450	3	1	153	1	0	0	0	0	1	0	0	0	14967	1751	61	5	1184	5	SOS2	14	50605450	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	17986343	50605450	56744090	936	26910										
SOS2	6655	genome.wustl.edu	37	chr14	50666501	50666501	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accagccaattttaaaatatCagctgagatatactctagta	5	8	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:50666501C>G	ENST00000216373.5	-	4	692	c.418G>C	c.(418-420)Gat>Cat	p.D140H	SOS2_ENST00000543680.1_Missense_Mutation_p.D140H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	140					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTAAAATATCAGCTGAGATA	0.333																																																	0													76	81	79					14																	50666501		2203	4294	6497	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.418G>C	14.37:g.50666501C>G	ENSP00000216373:p.Asp140His		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D140H	ENST00000216373.5	37	c.418	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740192	0.89573	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.85702	-2.02;-2.02	4.98	4.98	0.66077	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.92532	0.7628	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93402	0.6761	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	140;140	B7ZKT6;Q07890	.;SOS2_HUMAN	H	140	ENSP00000216373:D140H;ENSP00000445328:D140H	ENSP00000216373:D140H	D	-	1	0	SOS2	49736251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.482000	0.83794	0.563000	0.77884	GAT	SOS2	-	pfam_Histone_core_D,superfamily_Histone-fold		0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50666501	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50666501	C	G	50666501	3	3	153	1	0	0	0	0	1	0	0	0	14967	826	29	1	3660	1	SOS2	14	50666501	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	61051	50666501	56683039	937	26911										
MAP4K5	11183	genome.wustl.edu	37	chr14	50892637	50892637	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggcttacctcatctgacttGaagcttttaccctgcatccc	6	14	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:50892637G>C	ENST00000013125.4	-	30	2703	c.2385C>G	c.(2383-2385)ttC>ttG	p.F795L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	795	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					CATCTGACTTGAAGCTTTTAC	0.403																																																	0													90	86	87					14																	50892637		1919	4145	6064	SO:0001583	missense	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2385C>G	14.37:g.50892637G>C	ENSP00000013125:p.Phe795Leu		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.F795L	ENST00000013125.4	37	c.2385		14	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254353	0.22965	.	.	ENSG00000012983	ENST00000013125	T	0.03689	3.84	5.55	5.55	0.83447	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	L	0.35249	1.045	0.80722	D	1	B;D	0.63046	0.065;0.992	B;D	0.76071	0.105;0.987	T	0.22836	-1.0205	10	0.02654	T	1	.	13.7644	0.62986	0.0735:0.0:0.9265:0.0	.	795;795	B2R928;Q9Y4K4	.;M4K5_HUMAN	L	795	ENSP00000013125:F795L	ENSP00000013125:F795L	F	-	3	2	MAP4K5	49962387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.739000	0.55075	2.616000	0.88540	0.561000	0.74099	TTC	MAP4K5	-	pfam_Citron,smart_Citron		0.403	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	G	NM_006575		50892637	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50892637	G	C	50892637	3	2	153	1	0	0	0	0	1	0	0	0	9286	1281	45	1	167	1	MAP4K5	14	50892637	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	226136	50892637	56456903	938	26912										
NIN	51199	genome.wustl.edu	37	chr14	51225146	51225146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcctgggcttccgcacactCctgggtgagctcgtccttct	10	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:51225146C>G	ENST00000382041.3	-	18	2792	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E868Q|NIN_ENST00000245441.5_Missense_Mutation_p.E868Q|NIN_ENST00000453196.1_Missense_Mutation_p.E868Q|NIN_ENST00000530997.2_Missense_Mutation_p.E868Q|NIN_ENST00000382043.4_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	868					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCGCACACTCCTGGGTGAGC	0.542			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													73	68	69					14																	51225146		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2602G>C	14.37:g.51225146C>G	ENSP00000371472:p.Glu868Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E868Q	ENST00000382041.3	37	c.2602	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.177274|4.177274	0.78564|0.78564	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08193|.	3.39;3.12;3.12;3.12|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.381264|.	0.31427|.	N|.	0.007664|.	T|T	0.76162|0.76162	0.3949|0.3949	M|M	0.69823|0.69823	2.125|2.125	0.40332|0.40332	D|D	0.978931|0.978931	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.85130|.	0.974;0.988;0.997;0.994|.	T|T	0.74725|0.74725	-0.3568|-0.3568	10|5	0.32370|.	T|.	0.25|.	-18.8879|-18.8879	19.0734|19.0734	0.93150|0.93150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	874;868;868;868|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|A	868;851;874;868;868;868|358	ENSP00000245441:E868Q;ENSP00000371472:E868Q;ENSP00000324210:E868Q;ENSP00000412391:E868Q|.	ENSP00000245441:E868Q|.	E|G	-|-	1|2	0|0	NIN|NIN	50294896|50294896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.148000|4.148000	0.58085|0.58085	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GAG|GGA	NIN	-	NULL		0.542	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51225146	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51225146	C	G	51225146	3	3	153	1	0	0	0	0	1	0	0	0	10441	864	30	1	4003	1	NIN	14	51225146	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	332509	51225146	56124394	939	26913										
PTGDR	5729	genome.wustl.edu	37	chr14	52734613	52734613	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgatgggcggggtgctcttCagcaccggcctcctgggcaa	16	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:52734613C>T	ENST00000306051.2	+	1	183	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PTGDR_ENST00000553372.1_Silent_p.F27F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	27					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGGTGCTCTTCAGCACCGGCC	0.701																																																	0													22	23	23					14																	52734613		2203	4299	6502	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.81C>T	14.37:g.52734613C>T			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.F27	ENST00000306051.2	37	c.81	CCDS9707.1	14																																																																																			PTGDR	-	NULL		0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52734613	1	no_errors	ENST00000306051	ensembl	human	known	70_37	silent	SNP	1.000	T	T	52734613	C	T	52734613	2	4	153	1	0	0	0	0	0	0	0	1	12768	825	29	1		1	PTGDR	14	52734613	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1509467	52734613	54614927	940	26914										
PTGER2	5732	genome.wustl.edu	37	chr14	52781855	52781855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcacgggcggaccgcttacCtgcagctgtacgccaccctg	13	16	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:52781855C>T	ENST00000245457.5	+	1	743	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	197					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GACCGCTTACCTGCAGCTGTA	0.627																																																	0													65	55	58					14																	52781855		2203	4300	6503	SO:0001819	synonymous_variant	5732				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.589C>T	14.37:g.52781855C>T			D3DSC0|Q52LG8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.L197	ENST00000245457.5	37	c.589	CCDS9708.1	14																																																																																			PTGER2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.627	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	C			52781855	1	no_errors	ENST00000245457	ensembl	human	known	70_37	silent	SNP	0.984	T	T	52781855	C	T	52781855	2	4	153	1	0	0	0	0	0	0	0	1	12771	680	24	4		4	PTGER2	14	52781855	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	47242	52781855	54567685	941	26915										
LGALS3	3958	genome.wustl.edu	37	chr14	55609464	55609464	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgaaagtgggaaaccattCaaagtaagttattgctacta	8	5	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:55609464C>G	ENST00000254301.9	+	5	855	c.594C>G	c.(592-594)ttC>ttG	p.F198L	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.F198L	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	198	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GGAAACCATTCAAAGTAAGTT	0.358																																																	0													58	59	59					14																	55609464		1821	4066	5887	SO:0001583	missense	3958			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"Lectins, galactoside-binding", "Endogenous ligands"	6563	protein-coding gene	gene with protein product	"galectin 3"	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.594C>G	14.37:g.55609464C>G	ENSP00000254301:p.Phe198Leu		B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.F198L	ENST00000254301.9	37	c.594	CCDS41956.1	14	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323431	0.41096	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.11604	2.76;2.76	5.07	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	H	0.95437	3.67	0.58432	D	0.99999	D	0.76494	0.999	D	0.85130	0.997	T	0.40232	-0.9574	10	0.87932	D	0	.	8.2401	0.31654	0.0:0.7523:0.0:0.2477	.	198	P17931	LEG3_HUMAN	L	198	ENSP00000254301:F198L;ENSP00000451381:F198L	ENSP00000254301:F198L	F	+	3	2	LGALS3	54679217	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	1.595000	0.36708	0.541000	0.28827	-0.793000	0.03317	TTC	LGALS3	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.358	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3	HGNC	protein_coding	OTTHUMT00000411309.1	C	NM_002306		55609464	1	no_errors	ENST00000254301	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55609464	C	G	55609464	3	3	153	1	0	0	0	0	1	0	0	0	8763	825	29	1	608	1	LGALS3	14	55609464	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2827609	55609464	51740076	942	26916										
KTN1	3895	genome.wustl.edu	37	chr14	56104059	56104059	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaaaagggtgaacaaagaaGagtctctacaaatgcaggtt	11	5	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:56104059G>C	ENST00000395314.3	+	11	1761	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	KTN1_ENST00000395308.1_Missense_Mutation_p.E565Q|KTN1_ENST00000395311.1_Missense_Mutation_p.E565Q|KTN1_ENST00000438792.2_Missense_Mutation_p.E565Q|KTN1_ENST00000416613.1_Missense_Mutation_p.E565Q|KTN1_ENST00000395309.3_Missense_Mutation_p.E565Q|KTN1_ENST00000413890.2_Missense_Mutation_p.E565Q	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	565					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAACAAAGAAGAGTCTCTACA	0.348			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													99	101	100					14																	56104059		2203	4300	6503	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1693G>C	14.37:g.56104059G>C	ENSP00000378725:p.Glu565Gln		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.E565Q	ENST00000395314.3	37	c.1693	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085417	0.76642	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.34859	1.34;1.43;1.35;1.43;1.34;1.34;1.43	5.29	5.29	0.74685	.	0.140255	0.32161	N	0.006494	T	0.47229	0.1434	L	0.42245	1.32	0.41768	D	0.989759	P;D;P;P	0.56287	0.911;0.975;0.923;0.911	P;P;P;P	0.55260	0.571;0.718;0.772;0.571	T	0.23154	-1.0196	10	0.32370	T	0.25	-14.8265	19.2862	0.94072	0.0:0.0:1.0:0.0	.	565;565;565;565	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	Q	565	ENSP00000394992:E565Q;ENSP00000378720:E565Q;ENSP00000391964:E565Q;ENSP00000378725:E565Q;ENSP00000378719:E565Q;ENSP00000378722:E565Q;ENSP00000388807:E565Q	ENSP00000378719:E565Q	E	+	1	0	KTN1	55173812	1.000000	0.71417	0.996000	0.52242	0.776000	0.43924	7.523000	0.81856	2.621000	0.88768	0.563000	0.77884	GAG	KTN1	-	NULL		0.348	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56104059	1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56104059	G	C	56104059	3	2	153	1	0	0	0	0	1	0	0	0	8605	943	33	1	1731	1	KTN1	14	56104059	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	494595	56104059	51245481	943	26917										
OTX2	5015	genome.wustl.edu	37	chr14	57269054	57269054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttgttggcggcacttagctCttcgattcttaaaccatacc	8	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:57269054C>G	ENST00000555006.1	-	4	677	c.269G>C	c.(268-270)aGa>aCa	p.R90T	OTX2_ENST00000339475.5_Missense_Mutation_p.R98T|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.R90T|OTX2_ENST00000554559.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2	90			R -> S (in MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non- functional). {ECO:0000269|PubMed:20396904}.		axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCACTTAGCTCTTCGATTCTT	0.418																																																	0													109	115	113					14																	57269054		2203	4300	6503	SO:0001583	missense	5015			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.269G>C	14.37:g.57269054C>G	ENSP00000452336:p.Arg90Thr		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Otx2_TF,prints_Otx_TF	p.R98T	ENST00000555006.1	37	c.293	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268493	0.59540	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.49916	D	0.000129	D	0.99802	0.9915	H	0.99994	5.4	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.96336	0.9247	10	0.87932	D	0	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	98;90	F1T0D1;P32243	.;OTX2_HUMAN	T	98;90;90;98;90	ENSP00000343819:R98T;ENSP00000386185:R90T;ENSP00000452336:R90T;ENSP00000451357:R98T;ENSP00000451272:R90T	ENSP00000343819:R98T	R	-	2	0	OTX2	56338807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.798000	0.85924	2.809000	0.96659	0.557000	0.71058	AGA	OTX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.418	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1	C	NM_021728.		57269054	-1	no_errors	ENST00000339475	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57269054	C	G	57269054	3	3	153	1	0	0	0	0	1	0	0	0	11345	913	32	1	604	1	OTX2	14	57269054	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1164995	57269054	50080486	944	26918										
ARID4A	5926	genome.wustl.edu	37	chr14	58771670	58771670	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatgtttttcaggtactcctGaaacaggataataccacaca	6	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:58771670G>C	ENST00000355431.3	+	4	499	c.126G>C	c.(124-126)ctG>ctC	p.L42L	ARID4A_ENST00000348476.3_Silent_p.L42L|ARID4A_ENST00000395168.3_Silent_p.L42L|ARID4A_ENST00000431317.2_Silent_p.L42L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	42					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTACTCCTGAAACAGGATA	0.279																																																	0													104	105	104					14																	58771670		2203	4295	6498	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.126G>C	14.37:g.58771670G>C			Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.L42	ENST00000355431.3	37	c.126	CCDS9732.1	14																																																																																			ARID4A	-	NULL		0.279	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58771670	1	no_errors	ENST00000355431	ensembl	human	known	70_37	silent	SNP	1.000	C	C	58771670	G	C	58771670	2	2	153	1	0	0	0	0	0	0	0	1	919	1277	45	1		1	ARID4A	14	58771670	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1502616	58771670	48577870	945	26919										
C14orf135	64430	genome.wustl.edu	37	chr14	60591245	60591245	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagagaatgttcacaacactGaaaataaagggaaagcacct	8	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:60591245G>A	ENST00000406854.1	+	9	2910	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	PCNXL4_ENST00000317623.4_Missense_Mutation_p.E552K|PCNXL4_ENST00000404681.2_Missense_Mutation_p.E786K|PCNXL4_ENST00000406949.1_Missense_Mutation_p.E552K|PCNXL4_ENST00000535349.1_5'UTR			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	786						integral component of membrane (GO:0016021)											TCACAACACTGAAAATAAAGG	0.378																																																	0													108	117	114					14																	60591245		2203	4299	6502	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2356G>A	14.37:g.60591245G>A	ENSP00000384801:p.Glu786Lys		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.E786K	ENST00000406854.1	37	c.2356		14	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988834	0.35131	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.23348	1.92;1.92;1.91;1.92	5.39	5.39	0.77823	.	0.590551	0.19209	N	0.119966	T	0.24928	0.0605	L	0.60455	1.87	0.38165	D	0.939145	B;B	0.13145	0.007;0.006	B;B	0.12156	0.004;0.007	T	0.07139	-1.0788	10	0.20046	T	0.44	.	11.0554	0.47915	0.0719:0.1303:0.7977:0.0	.	786;552	Q63HM2;B5MC47	CN135_HUMAN;.	K	552;786;552;786	ENSP00000317396:E552K;ENSP00000384801:E786K;ENSP00000385201:E552K;ENSP00000385713:E786K	ENSP00000317396:E552K	E	+	1	0	C14orf135	59660998	0.015000	0.18098	0.079000	0.20413	0.802000	0.45316	1.318000	0.33643	2.672000	0.90937	0.650000	0.86243	GAA	PCNXL4	-	NULL		0.378	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	G	NM_022495		60591245	1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	0.041	A	A	60591245	G	A	60591245	3	1	153	1	0	0	0	0	1	0	0	0	1749	1291	45	1	1680	1	C14orf135	14	60591245	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1819575	60591245	46758295	946	26920										
KCNH5	27133	genome.wustl.edu	37	chr14	63175099	63175099	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggtggtccacgggaatgctGagggtcacctcattcttctg	14	10	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:63175099G>T	ENST00000322893.7	-	11	2362	c.2094C>A	c.(2092-2094)ctC>ctA	p.L698L	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	698					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGAATGCTGAGGGTCACCT	0.537																																																	0													111	116	114					14																	63175099		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2094C>A	14.37:g.63175099G>T			C9JP98	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L698	ENST00000322893.7	37	c.2094	CCDS9756.1	14																																																																																			KCNH5	-	NULL		0.537	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	G	NM_139318		63175099	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	silent	SNP	1.000	T	T	63175099	G	T	63175099	2	4	153	1	0	0	0	0	0	0	0	1	8055	1277	45	3		3	KCNH5	14	63175099	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2583854	63175099	44174441	947	26921										
SYNE2	23224	genome.wustl.edu	37	chr14	64408787	64408787	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agattaagctaataaatattCatgttactgatatcattgat	5	4	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:64408787C>T	ENST00000344113.4	+	6	546	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	SYNE2_ENST00000358025.3_Missense_Mutation_p.H112Y|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.H112Y|SYNE2_ENST00000341472.5_Missense_Mutation_p.H112Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.H112Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	112	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATAAATATTCATGTTACTGA	0.303																																																	0													86	80	82					14																	64408787		1802	4075	5877	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.334C>T	14.37:g.64408787C>T	ENSP00000341781:p.His112Tyr		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H112Y	ENST00000344113.4	37	c.334	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897514	0.52121	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.56097	D	0.000039	D	0.96836	0.8967	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.929	D	0.97069	0.9776	10	0.72032	D	0.01	.	20.1615	0.98135	0.0:1.0:0.0:0.0	.	112;112;112	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	Y	112	ENSP00000350719:H112Y;ENSP00000341781:H112Y;ENSP00000344528:H112Y;ENSP00000348382:H112Y;ENSP00000452570:H112Y	ENSP00000261678:H112Y	H	+	1	0	SYNE2	63478540	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.686000	0.54685	2.835000	0.97688	0.650000	0.86243	CAT	SYNE2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64408787	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64408787	C	T	64408787	3	4	153	1	0	0	0	0	1	0	0	0	15476	826	29	1	352	1	SYNE2	14	64408787	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1233688	64408787	42940753	948	26922										
ZBTB1	22890	genome.wustl.edu	37	chr14	64989698	64989698	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaaaatggacttggaagaGaatcctgatgagcagtccga	13	6	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:64989698G>C	ENST00000554015.1	+	4	1907	c.1476G>C	c.(1474-1476)gaG>gaC	p.E492D	ZBTB1_ENST00000358738.3_Missense_Mutation_p.E492D|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E492D			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	492					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ACTTGGAAGAGAATCCTGATG	0.423																																																	0													106	105	105					14																	64989698		2203	4300	6503	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1476G>C	14.37:g.64989698G>C	ENSP00000451000:p.Glu492Asp		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E492D	ENST00000554015.1	37	c.1476	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188873	0.38707	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.11169	2.8;3.39;2.8	6.03	1.1	0.20463	.	0.312442	0.28203	N	0.016207	T	0.12774	0.0310	L	0.27053	0.805	0.34924	D	0.748703	D;P	0.56287	0.975;0.882	P;B	0.53062	0.717;0.428	T	0.14980	-1.0453	10	0.66056	D	0.02	-24.007	11.1015	0.48177	0.3835:0.0:0.6165:0.0	.	492;492	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	D	492	ENSP00000451000:E492D;ENSP00000351587:E492D;ENSP00000378201:E492D	ENSP00000351587:E492D	E	+	3	2	ZBTB1	64059451	0.980000	0.34600	0.999000	0.59377	0.998000	0.95712	0.091000	0.15046	0.152000	0.19188	0.655000	0.94253	GAG	ZBTB1	-	NULL		0.423	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	G			64989698	1	no_errors	ENST00000394712	ensembl	human	known	70_37	missense	SNP	0.990	C	C	64989698	G	C	64989698	3	2	153	1	0	0	0	0	1	0	0	0	17552	933	33	1	1478	1	ZBTB1	14	64989698	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	580911	64989698	42359842	949	26923										
HSPA2	3306	genome.wustl.edu	37	chr14	65009338	65009338	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcgaccgaaaccagatggcaGagaaagatgagtatgaacac	11	8	0	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:65009338G>A	ENST00000394709.1	+	2	1847	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.E591K			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	591					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCAGATGGCAGAGAAAGATGA	0.517																																					Pancreas(136;1211 1835 24894 31984 38227)												0													118	116	117					14																	65009338		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1771G>A	14.37:g.65009338G>A	ENSP00000378199:p.Glu591Lys		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E591K	ENST00000394709.1	37	c.1771	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358958	0.82353	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01034	5.42;5.42	5.43	5.43	0.79202	.	0.000000	0.53938	U	0.000041	T	0.03651	0.0104	M	0.83953	2.67	0.52099	D	0.999948	B	0.20988	0.05	B	0.34931	0.192	T	0.32402	-0.9908	10	0.87932	D	0	-4.5134	19.3085	0.94175	0.0:0.0:1.0:0.0	.	591	P54652	HSP72_HUMAN	K	591;591;365	ENSP00000378199:E591K;ENSP00000247207:E591K	ENSP00000247207:E591K	E	+	1	0	HSPA2	64079091	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.869000	0.99810	2.561000	0.86390	0.558000	0.71614	GAG	HSPA2	-	pfam_Hsp_70_fam		0.517	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	G			65009338	1	no_errors	ENST00000247207	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65009338	G	A	65009338	3	1	153	1	0	0	0	0	1	0	0	0	7431	943	33	1	1773	1	HSPA2	14	65009338	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	19640	65009338	42340202	950	26924										
PLEKHG3	26030	genome.wustl.edu	37	chr14	65194406	65194406	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggagcggccggtgagcctGacctctaccacctcctcgtc	11	17	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:65194406G>C	ENST00000394691.1	+	2	204	c.57G>C	c.(55-57)ctG>ctC	p.L19L	PLEKHG3_ENST00000247226.7_Silent_p.L19L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	19	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGTGAGCCTGACCTCTACCA	0.672																																																	0													15	15	15					14																	65194406		2189	4259	6448	SO:0001819	synonymous_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.57G>C	14.37:g.65194406G>C			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L19	ENST00000394691.1	37	c.57		14																																																																																			PLEKHG3	-	NULL		0.672	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65194406	1	no_errors	ENST00000394691	ensembl	human	known	70_37	silent	SNP	0.338	C	C	65194406	G	C	65194406	2	2	153	1	0	0	0	0	0	0	0	1	12094	1277	45	1		1	PLEKHG3	14	65194406	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	185068	65194406	42155134	951	26925										
MPP5	64398	genome.wustl.edu	37	chr14	67787084	67787084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcagaggctcatgaacaaaGaaaaggaccgctttgcatct	10	9	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:67787084G>C	ENST00000261681.4	+	12	2168	c.1507G>C	c.(1507-1509)Gaa>Caa	p.E503Q	MPP5_ENST00000555925.1_Missense_Mutation_p.E469Q|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	503	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CATGAACAAAGAAAAGGACCG	0.423																																																	0													111	106	108					14																	67787084		2203	4300	6503	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1507G>C	14.37:g.67787084G>C	ENSP00000261681:p.Glu503Gln		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E503Q	ENST00000261681.4	37	c.1507	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366647	0.61513	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.048890	0.85682	D	0.000000	T	0.31263	0.0791	N	0.10874	0.06	0.80722	D	1	B	0.17038	0.02	B	0.24006	0.05	T	0.09952	-1.0651	10	0.51188	T	0.08	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	503	Q8N3R9	MPP5_HUMAN	Q	503;469	ENSP00000261681:E503Q;ENSP00000451488:E469Q	ENSP00000261681:E503Q	E	+	1	0	MPP5	66856837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.769000	0.95229	0.655000	0.94253	GAA	MPP5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.423	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67787084	1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67787084	G	C	67787084	3	2	153	1	0	0	0	0	1	0	0	0	9760	943	33	1	1545	1	MPP5	14	67787084	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2592678	67787084	39562456	952	26926										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68282646	68282646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccaaaaagctgcttctgcGaagcagcttcctcttttcca	6	13	2	0	rs200174594		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:68282646G>A	ENST00000347230.4	-	2	173	c.35C>T	c.(34-36)tCg>tTg	p.S12L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S12L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	12					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCTTCTGCGAAGCAGCTTC	0.483																																																	0													36	36	36					14																	68282646		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.35C>T	14.37:g.68282646G>A	ENSP00000251119:p.Ser12Leu		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S12L	ENST00000347230.4	37	c.35	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531540	0.85706	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.35236	1.48;1.32	5.89	5.89	0.94794	.	0.111526	0.64402	D	0.000007	T	0.50171	0.1600	L	0.59436	1.845	0.45025	D	0.998049	D;P;P	0.69078	0.997;0.949;0.772	P;P;B	0.51453	0.67;0.455;0.122	T	0.49899	-0.8890	10	0.72032	D	0.01	-14.0674	20.2576	0.98430	0.0:0.0:1.0:0.0	.	12;12;12	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	L	12	ENSP00000251119:S12L;ENSP00000450603:S12L	ENSP00000251119:S12L	S	-	2	0	ZFYVE26	67352399	1.000000	0.71417	0.964000	0.40570	0.976000	0.68499	7.801000	0.85960	2.783000	0.95769	0.655000	0.94253	TCG	ZFYVE26	-	NULL		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68282646	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	0.981	A	A	68282646	G	A	68282646	3	1	153	1	0	0	0	0	1	0	0	0	17698	1059	37	1	7748	1	ZFYVE26	14	68282646	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	495562	68282646	39066894	953	26927										
PCNX	22990	genome.wustl.edu	37	chr14	71513704	71513704	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagccactatgatgtggtttGagaaacttcatgtgtggctt	11	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:71513704G>C	ENST00000304743.2	+	21	4488	c.4042G>C	c.(4042-4044)Gag>Cag	p.E1348Q	PCNX_ENST00000238570.5_Missense_Mutation_p.E1348Q|PCNX_ENST00000439984.3_Missense_Mutation_p.E1237Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1348						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATGTGGTTTGAGAAACTTCA	0.358																																																	0													112	102	105					14																	71513704		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4042G>C	14.37:g.71513704G>C	ENSP00000304192:p.Glu1348Gln		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.E1348Q	ENST00000304743.2	37	c.4042	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.933171|3.933171	0.73442|0.73442	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.21734|.	2.28;2.29;1.99|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83188|0.83188	0.5200|0.5200	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;1.0;0.999|.	D;D;D|.	0.91635|.	0.991;0.999;0.994|.	D|D	0.85990|0.85990	0.1488|0.1488	10|5	0.87932|.	D|.	0|.	.|.	18.2092|18.2092	0.89865|0.89865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1348;1237;1348|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	Q|F	1348;1348;1237|406	ENSP00000304192:E1348Q;ENSP00000238570:E1348Q;ENSP00000396617:E1237Q|.	ENSP00000238570:E1348Q|.	E|L	+|+	1|3	0|2	PCNX|PCNX	70583457|70583457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.813000|9.813000	0.99286|0.99286	2.363000|2.363000	0.80096|0.80096	0.455000|0.455000	0.32223|0.32223	GAG|TTG	PCNX	-	NULL		0.358	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	G	NM_014982		71513704	1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71513704	G	C	71513704	3	2	153	1	0	0	0	0	1	0	0	0	11615	1291	45	1	4124	1	PCNX	14	71513704	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3231058	71513704	35835836	954	26928										
HEATR4	399671	genome.wustl.edu	37	chr14	73989258	73989258	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcacagtggcctcccacgctCtggcctccttctcaggaggc	11	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:73989258C>G	ENST00000553558.1	-	3	920	c.599G>C	c.(598-600)aGa>aCa	p.R200T	RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.R200T|HEATR4_ENST00000560393.1_Missense_Mutation_p.R153T	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	200										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCCCACGCTCTGGCCTCCTT	0.597																																																	0													38	37	37					14																	73989258		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.599G>C	14.37:g.73989258C>G	ENSP00000450444:p.Arg200Thr		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R200T	ENST00000553558.1	37	c.599	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892871	0.52121	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.42900	0.96	6.07	3.3	0.37823	.	0.289066	0.30168	N	0.010248	T	0.35219	0.0924	L	0.34521	1.04	0.27033	N	0.964186	P	0.50272	0.933	P	0.46479	0.518	T	0.17868	-1.0355	10	0.72032	D	0.01	-6.4962	8.2404	0.31656	0.0:0.7565:0.0:0.2435	.	200	Q86WZ0	HEAT4_HUMAN	T	200;153	ENSP00000450444:R200T	ENSP00000335447:R153T	R	-	2	0	HEATR4	73059011	0.771000	0.28555	0.982000	0.44146	0.497000	0.33675	0.713000	0.25794	0.461000	0.27071	-0.136000	0.14681	AGA	HEATR4	-	NULL		0.597	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73989258	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.989	G	G	73989258	C	G	73989258	3	3	153	1	0	0	0	0	1	0	0	0	7050	913	32	1	2545	1	HEATR4	14	73989258	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2475554	73989258	33360282	955	26929										
ACOT2	10965	genome.wustl.edu	37	chr14	74036564	74036564	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtgcgcgtgggccgggtgcGaggcacgctcttcctgccgc	18	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74036564G>C	ENST00000238651.5	+	1	802	c.620G>C	c.(619-621)cGa>cCa	p.R207P	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	207					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGCCGGGTGCGAGGCACGCTC	0.697																																																	0													7	8	7					14																	74036564		1814	3716	5530	SO:0001583	missense	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.620G>C	14.37:g.74036564G>C	ENSP00000238651:p.Arg207Pro		Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.R207P	ENST00000238651.5	37	c.620	CCDS9816.1	14	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294358	0.23564	.	.	ENSG00000119673	ENST00000238651	T	0.39592	1.07	3.31	2.39	0.29439	.	0.200182	0.42294	N	0.000722	T	0.45236	0.1332	M	0.81942	2.565	0.49915	D	0.999831	B	0.32507	0.373	B	0.33521	0.165	T	0.49113	-0.8973	10	0.72032	D	0.01	-2.6661	10.8903	0.46992	0.0979:0.0:0.9021:0.0	.	207	P49753	ACOT2_HUMAN	P	207	ENSP00000238651:R207P	ENSP00000238651:R207P	R	+	2	0	ACOT2	73106317	1.000000	0.71417	0.687000	0.30102	0.002000	0.02628	3.751000	0.55165	0.472000	0.27344	0.205000	0.17691	CGA	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain		0.697	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	G	NM_006821		74036564	1	no_errors	ENST00000238651	ensembl	human	known	70_37	missense	SNP	0.965	C	C	74036564	G	C	74036564	3	2	153	1	0	0	0	0	1	0	0	0	152	1058	37	1	622	1	ACOT2	14	74036564	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	47306	74036564	33312976	956	26930										
PNMA1	9240	genome.wustl.edu	37	chr14	74179653	74179653	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacacctgctcaagcgccttCaggcattcggcagtggttat	10	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74179653C>T	ENST00000316836.3	-	1	1475	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	230					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		caagcgccttcaggcattcgg	0.517																																																	0													69	78	75					14																	74179653		2203	4300	6503	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.690G>A	14.37:g.74179653C>T			A8K4L5|O95144|Q8NG07	Silent	SNP	superfamily_Globin-like	p.L230	ENST00000316836.3	37	c.690	CCDS9818.1	14																																																																																			PNMA1	-	NULL		0.517	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	HGNC	protein_coding	OTTHUMT00000402774.1	C	NM_006029		74179653	-1	no_errors	ENST00000316836	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74179653	C	T	74179653	2	4	153	1	0	0	0	0	0	0	0	1	12177	813	29	1		1	PNMA1	14	74179653	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	143089	74179653	33169887	957	26931										
C14orf43	91748	genome.wustl.edu	37	chr14	74196458	74196458	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagccttcccgcacagggctGaggatggggggcggcgtgta	19	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74196458G>C	ENST00000286523.5	-	4	2762	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L	ELMSAN1_ENST00000394071.2_Silent_p.L660L	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCACAGGGCTGAGGATGGGGG	0.627																																																	0													72	65	67					14																	74196458		2203	4300	6503	SO:0001819	synonymous_variant	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1980C>G	14.37:g.74196458G>C			Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.L660	ENST00000286523.5	37	c.1980	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	G	NM_194278		74196458	-1	no_errors	ENST00000286523	ensembl	human	known	70_37	silent	SNP	0.997	C	C	74196458	G	C	74196458	2	2	153	1	0	0	0	0	0	0	0	1	1778	1277	45	1		1	C14orf43	14	74196458	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	16805	74196458	33153082	958	26932										
YLPM1	56252	genome.wustl.edu	37	chr14	75276095	75276095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctctagcctccagggtcgTatagacctccccctcctatg	7	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:75276095T>C	ENST00000552421.1	+	6	2540	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	YLPM1_ENST00000238571.3_Missense_Mutation_p.Y1317H|YLPM1_ENST00000325680.7_Missense_Mutation_p.Y1512H			P49750	YLPM1_HUMAN	YLP motif containing 1	1317					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCAGGGTCGTATAGACCTCC	0.448																																																	0													63	60	61					14																	75276095		1922	4137	6059	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2416T>C	14.37:g.75276095T>C	ENSP00000447921:p.Tyr806His		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.Y1512H	ENST00000552421.1	37	c.4534		14	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145198	0.57044	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.18	5.18	0.71444	.	0.112860	0.40222	N	0.001153	T	0.43344	0.1243	N	0.14661	0.345	0.30072	N	0.809969	D	0.71674	0.998	D	0.69142	0.962	T	0.38373	-0.9664	9	0.22706	T	0.39	-7.4779	12.7739	0.57436	0.0:0.0:0.0:1.0	.	1512	P49750-4	.	H	806;1512;1317;1225	.	ENSP00000238571:Y1317H	Y	+	1	0	YLPM1	74345848	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.543000	0.60684	1.933000	0.56026	0.482000	0.46254	TAT	YLPM1	-	NULL		0.448	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	T	NM_019589		75276095	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75276095	T	C	75276095	3	2	153	1	0	0	0	0	1	0	0	0	17517	1638	57	5	4560	5	YLPM1	14	75276095	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	1079637	75276095	32073445	959	26933										
VASH1	22846	genome.wustl.edu	37	chr14	77242382	77242382	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgagtcggcgcgaggacctGatgtacaagccgcccgcctt	13	13	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:77242382G>C	ENST00000167106.4	+	5	1311	c.678G>C	c.(676-678)ctG>ctC	p.L226L	VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000554743.1_5'Flank|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	226					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GCGAGGACCTGATGTACAAGC	0.647																																																	0													33	31	31					14																	77242382		2201	4299	6500	SO:0001819	synonymous_variant	22846			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.678G>C	14.37:g.77242382G>C			Q96H02|Q9UBF4|Q9Y629	Silent	SNP	NULL	p.L226	ENST00000167106.4	37	c.678	CCDS9851.1	14																																																																																			VASH1	-	NULL		0.647	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	G	NM_014909		77242382	1	no_errors	ENST00000167106	ensembl	human	known	70_37	silent	SNP	1.000	C	C	77242382	G	C	77242382	2	2	153	1	0	0	0	0	0	0	0	1	17156	1277	45	1		1	VASH1	14	77242382	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1966287	77242382	30107158	960	26934										
C14orf148	122945	genome.wustl.edu	37	chr14	77873163	77873163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagacgctgacagaatcttCatcatactgatactgaggcc	8	12	3	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:77873163C>T	ENST00000380835.2	-	4	752	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	NOXRED1_ENST00000298358.3_Missense_Mutation_p.E196K	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	196					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACAGAATCTTCATCATACTGA	0.498																																																	0													85	69	75					14																	77873163		2203	4300	6503	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.586G>A	14.37:g.77873163C>T	ENSP00000370215:p.Glu196Lys		B3KQ47|O95435	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420	p.E196K	ENST00000380835.2	37	c.586	CCDS45142.1	14	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493319	0.12702	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.56103	0.52;0.48;0.52	5.94	-0.312	0.12758	.	1.307300	0.04858	N	0.443522	T	0.36963	0.0986	L	0.38531	1.155	0.09310	N	1	B;B	0.22003	0.063;0.038	B;B	0.20384	0.029;0.013	T	0.08911	-1.0699	10	0.17832	T	0.49	0.0138	1.8678	0.03202	0.129:0.4598:0.1251:0.2861	.	196;196	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	K	196	ENSP00000370215:E196K;ENSP00000298358:E196K;ENSP00000450597:E196K	ENSP00000298358:E196K	E	-	1	0	C14orf148	76942916	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.051000	0.14141	-0.340000	0.08388	-0.315000	0.08773	GAA	NOXRED1	-	NULL		0.498	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	C	NM_138791		77873163	-1	no_errors	ENST00000380835	ensembl	human	known	70_37	missense	SNP	0.000	T	T	77873163	C	T	77873163	3	4	153	1	0	0	0	0	1	0	0	0	1755	835	29	1	574	1	C14orf148	14	77873163	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	630781	77873163	29476377	961	26935										
C14orf102	55051	genome.wustl.edu	37	chr14	90778753	90778753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actaccttgctatatcccctCggtagagagacttgtactcc	7	13	0	2	rs532677267		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:90778753C>T	ENST00000354366.3	-	4	774	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	181																	TATATCCCCTCGGTAGAGAGA	0.488																																																	0													121	103	109					14																	90778753		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.542G>A	14.37:g.90778753C>T	ENSP00000346335:p.Arg181Gln		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.R181Q	ENST00000354366.3	37	c.542	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561982	0.86335	.	.	ENSG00000119720	ENST00000354366	T	0.28454	1.61	5.14	5.14	0.70334	.	0.061005	0.64402	D	0.000003	T	0.28466	0.0704	M	0.64567	1.98	0.80722	D	1	D	0.54047	0.964	B	0.37304	0.246	T	0.11060	-1.0603	10	0.44086	T	0.13	-10.548	12.3441	0.55111	0.0:0.9223:0.0:0.0777	.	181	Q9H7Z3	CN102_HUMAN	Q	181	ENSP00000346335:R181Q	ENSP00000346335:R181Q	R	-	2	0	C14orf102	89848506	1.000000	0.71417	0.949000	0.38748	0.974000	0.67602	4.083000	0.57643	2.547000	0.85894	0.549000	0.68633	CGA	NRDE2	-	NULL		0.488	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90778753	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90778753	C	T	90778753	3	4	153	1	0	0	0	0	1	0	0	0	1739	884	31	1	2996	1	C14orf102	14	90778753	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12905590	90778753	16570787	962	26936			4	116		3	3	47	C		2.202447e-06
C14orf102	55051	genome.wustl.edu	37	chr14	90778787	90778787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtactcccagttcgcaggatCtggtttcttatctgttctga	9	10	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:90778787C>G	ENST00000354366.3	-	4	740	c.508G>C	c.(508-510)Gat>Cat	p.D170H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	170																	TTCGCAGGATCTGGTTTCTTA	0.458																																																	0													153	130	138					14																	90778787		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.508G>C	14.37:g.90778787C>G	ENSP00000346335:p.Asp170His		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.D170H	ENST00000354366.3	37	c.508	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692226	0.88735	.	.	ENSG00000119720	ENST00000354366	T	0.60548	0.18	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	-27.2194	19.4255	0.94740	0.0:1.0:0.0:0.0	.	170	Q9H7Z3	CN102_HUMAN	H	170	ENSP00000346335:D170H	ENSP00000346335:D170H	D	-	1	0	C14orf102	89848540	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	6.793000	0.75130	2.657000	0.90304	0.549000	0.68633	GAT	NRDE2	-	NULL		0.458	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90778787	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90778787	C	G	90778787	3	3	153	1	0	0	0	0	1	0	0	0	1739	913	32	1	3030	1	C14orf102	14	90778787	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	34	90778787	16570753	963	26937			4	116		3	3	47	C		2.202447e-06
C14orf102	55051	genome.wustl.edu	37	chr14	90778799	90778799	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgcaggatctggtttcttatCtgttctgaaggtttctcccg	10	10	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:90778799C>G	ENST00000354366.3	-	4	728	c.496G>C	c.(496-498)Gat>Cat	p.D166H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	166																	GGTTTCTTATCTGTTCTGAAG	0.468																																																	0													155	134	141					14																	90778799		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.496G>C	14.37:g.90778799C>G	ENSP00000346335:p.Asp166His		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.D166H	ENST00000354366.3	37	c.496	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691977	0.88735	.	.	ENSG00000119720	ENST00000354366	T	0.48522	0.81	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73452	-0.3978	10	0.87932	D	0	-27.2883	19.4255	0.94740	0.0:1.0:0.0:0.0	.	166	Q9H7Z3	CN102_HUMAN	H	166	ENSP00000346335:D166H	ENSP00000346335:D166H	D	-	1	0	C14orf102	89848552	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.111000	0.64628	2.657000	0.90304	0.549000	0.68633	GAT	NRDE2	-	NULL		0.468	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90778799	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90778799	C	G	90778799	3	3	153	1	0	0	0	0	1	0	0	0	1739	913	32	1	3042	1	C14orf102	14	90778799	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12	90778799	16570741	964	26938			4	116		3	3	47	C		2.202447e-06
TRIP11	9321	genome.wustl.edu	37	chr14	92477349	92477349	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccttttcttgactcagtaatGacttctctttttctaaaact	3	10	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:92477349G>A	ENST00000267622.4	-	9	1668	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	432					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ACTCAGTAATGACTTCTCTTT	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													165	143	150					14																	92477349		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1295C>T	14.37:g.92477349G>A	ENSP00000267622:p.Ser432Leu		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.S432L	ENST00000267622.4	37	c.1295	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	G	8.756	0.922412	0.17982	.	.	ENSG00000100815	ENST00000267622	T	0.63096	-0.02	5.87	4.05	0.47172	.	0.597834	0.17459	N	0.173512	T	0.51669	0.1688	L	0.45581	1.43	0.24525	N	0.99414	B	0.18310	0.027	B	0.18561	0.022	T	0.39663	-0.9603	10	0.28530	T	0.3	.	8.3418	0.32247	0.2408:0.0:0.7592:0.0	.	432	Q15643	TRIPB_HUMAN	L	432	ENSP00000267622:S432L	ENSP00000267622:S432L	S	-	2	0	TRIP11	91547102	0.958000	0.32768	0.315000	0.25238	0.349000	0.29174	1.630000	0.37081	0.942000	0.37525	-0.136000	0.14681	TCA	TRIP11	-	NULL		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	G			92477349	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.591	A	A	92477349	G	A	92477349	3	1	153	1	0	0	0	0	1	0	0	0	16586	1294	45	1	4696	1	TRIP11	14	92477349	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1698550	92477349	14872191	965	26939										
GOLGA5	9950	genome.wustl.edu	37	chr14	93282695	93282695	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctggaagaacttcggcatGagaaagagatgcagagggag	16	5	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:93282695G>T	ENST00000163416.2	+	7	1676	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.E474*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	474					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ACTTCGGCATGAGAAAGAGAT	0.453			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													123	120	121					14																	93282695		2203	4300	6503	SO:0001587	stop_gained	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1420G>T	14.37:g.93282695G>T	ENSP00000163416:p.Glu474*		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Nonsense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.E474*	ENST00000163416.2	37	c.1420	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.205557	0.98704	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	.	.	.	5.28	5.28	0.74379	.	0.000000	0.46442	D	0.000291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-22.585	18.9031	0.92451	0.0:0.0:1.0:0.0	.	.	.	.	X	474;474;383	.	ENSP00000163416:E474X	E	+	1	0	GOLGA5	92352448	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	8.929000	0.92859	2.459000	0.83118	0.655000	0.94253	GAG	GOLGA5	-	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin		0.453	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	G			93282695	1	no_errors	ENST00000163416	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	93282695	G	T	93282695	4	4	153	1	0	0	0	0	0	1	0	0	6575	1291	45	3	1442	3	GOLGA5	14	93282695	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	805346	93282695	14066845	966	26940										
BTBD7	55727	genome.wustl.edu	37	chr14	93717986	93717986	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgtttgttccaccatcatctCatctagcactgactgaaata	5	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:93717986C>G	ENST00000334746.5	-	8	2072	c.1765G>C	c.(1765-1767)Gag>Cag	p.E589Q	BTBD7_ENST00000554565.1_Missense_Mutation_p.E238Q|BTBD7_ENST00000393170.2_Missense_Mutation_p.E163Q	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	589					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACCATCATCTCATCTAGCACT	0.403																																																	0													171	139	150					14																	93717986		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1765G>C	14.37:g.93717986C>G	ENSP00000335615:p.Glu589Gln		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.E589Q	ENST00000334746.5	37	c.1765	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788212	0.90367	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.52983	0.99;0.64	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.91635	0.999;0.997;0.979	T	0.68546	-0.5380	10	0.72032	D	0.01	.	19.8205	0.96591	0.0:1.0:0.0:0.0	.	163;238;589	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	Q	589;238;204;163	ENSP00000335615:E589Q;ENSP00000451010:E238Q	ENSP00000335615:E589Q	E	-	1	0	BTBD7	92787739	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	7.485000	0.81204	2.684000	0.91462	0.591000	0.81541	GAG	BTBD7	-	NULL		0.403	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	C	NM_001002860		93717986	-1	no_errors	ENST00000334746	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93717986	C	G	93717986	3	3	153	1	0	0	0	0	1	0	0	0	1549	835	29	1	1649	1	BTBD7	14	93717986	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	435291	93717986	13631554	967	26941										
PPP4R4	57718	genome.wustl.edu	37	chr14	94716590	94716590	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtaaacaagaacagagacatGaggtcattcaaaaattaatt	7	5	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:94716590G>C	ENST00000304338.3	+	15	1847	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	565					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACAGAGACATGAGGTCATTCA	0.323																																																	0													118	106	110					14																	94716590		2202	4300	6502	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1693G>C	14.37:g.94716590G>C	ENSP00000305924:p.Glu565Gln		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E565Q	ENST00000304338.3	37	c.1693	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677888	0.88445	.	.	ENSG00000119698	ENST00000304338	T	0.33216	1.42	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.093233	0.64402	N	0.000001	T	0.58609	0.2134	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.59010	-0.7534	10	0.59425	D	0.04	-16.7164	19.8403	0.96679	0.0:0.0:1.0:0.0	.	565	Q6NUP7	PP4R4_HUMAN	Q	565	ENSP00000305924:E565Q	ENSP00000305924:E565Q	E	+	1	0	PPP4R4	93786343	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.429000	0.90280	2.692000	0.91855	0.455000	0.32223	GAG	PPP4R4	-	superfamily_ARM-type_fold		0.323	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	G	NM_058237		94716590	1	no_errors	ENST00000304338	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94716590	G	C	94716590	3	2	153	1	0	0	0	0	1	0	0	0	12432	1291	45	1	1824	1	PPP4R4	14	94716590	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	998604	94716590	12632950	968	26942										
C14orf49	161176	genome.wustl.edu	37	chr14	95932321	95932321	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcattctcttctgggcatCttcgtccacgctggggtccc	9	15	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:95932321C>G	ENST00000334258.5	-	3	588	c.574G>C	c.(574-576)Gat>Cat	p.D192H	SYNE3_ENST00000557275.1_Missense_Mutation_p.D192H|SYNE3_ENST00000553340.1_Missense_Mutation_p.D192H	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	192					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTCTGGGCATCTTCGTCCACG	0.617																																																	0													144	112	123					14																	95932321		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.574G>C	14.37:g.95932321C>G	ENSP00000334308:p.Asp192His		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.D192H	ENST00000334258.5	37	c.574	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953795	0.34471	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.10763	3.43;3.41;2.84	4.12	4.12	0.48240	.	0.186561	0.25827	N	0.028058	T	0.22044	0.0531	L	0.56769	1.78	0.18873	N	0.999989	D;D;D	0.67145	0.996;0.972;0.993	P;P;P	0.59171	0.853;0.792;0.789	T	0.02378	-1.1168	10	0.52906	T	0.07	-0.6891	10.1594	0.42842	0.0:0.9069:0.0:0.0931	.	192;192;192	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	H	192	ENSP00000334308:D192H;ENSP00000450562:D192H;ENSP00000450774:D192H	ENSP00000334308:D192H	D	-	1	0	C14orf49	95002074	0.397000	0.25270	0.029000	0.17559	0.339000	0.28857	1.859000	0.39418	1.828000	0.53243	0.298000	0.19748	GAT	SYNE3	-	NULL		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95932321	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	0.097	G	G	95932321	C	G	95932321	3	3	153	1	0	0	0	0	1	0	0	0	1780	913	32	1	2413	1	C14orf49	14	95932321	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1215731	95932321	11417219	969	26943										
ATG2B	55102	genome.wustl.edu	37	chr14	96773233	96773233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acaacatggctcctgaatttGagatttttcatccaaaacac	5	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:96773233G>C	ENST00000359933.4	-	30	5217	c.4324C>G	c.(4324-4326)Caa>Gaa	p.Q1442E	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1442					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCCTGAATTTGAGATTTTTCA	0.408																																																	0													48	47	47					14																	96773233		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4324C>G	14.37:g.96773233G>C	ENSP00000353010:p.Gln1442Glu		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q1442E	ENST00000359933.4	37	c.4324	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.514957	0.04200	.	.	ENSG00000066739	ENST00000359933	T	0.44083	0.93	5.59	5.59	0.84812	.	1.181520	0.06028	N	0.652571	T	0.34513	0.0900	L	0.33485	1.01	0.28069	N	0.932651	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.02654	T	1	.	15.1297	0.72514	0.0:0.1409:0.8591:0.0	.	1442	Q96BY7	ATG2B_HUMAN	E	1442	ENSP00000353010:Q1442E	ENSP00000261834:Q86E	Q	-	1	0	ATG2B	95842986	1.000000	0.71417	0.013000	0.15412	0.562000	0.35680	4.437000	0.59955	2.630000	0.89119	0.514000	0.50259	CAA	ATG2B	-	NULL		0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	G	NM_018036		96773233	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	0.549	C	C	96773233	G	C	96773233	3	2	153	1	0	0	0	0	1	0	0	0	1095	1299	45	1	1964	1	ATG2B	14	96773233	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	840912	96773233	10576307	970	26944										
AK7	122481	genome.wustl.edu	37	chr14	96944801	96944801	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagtctgtccttctccccaGaattcgtttgtgcactggat	10	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:96944801G>C	ENST00000267584.4	+	15	1599		c.e15-1			NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7						axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCCCCAGAATTCGTTTG	0.557																																																	0													116	109	112					14																	96944801		2203	4300	6503	SO:0001630	splice_region_variant	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1556-1G>C	14.37:g.96944801G>C			Q8IYP6	Splice_Site	SNP	-	e15-1	ENST00000267584.4	37	c.1556-1	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297186	0.81025	.	.	ENSG00000140057	ENST00000267584	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3825	0.90455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AK7	96014554	1.000000	0.71417	0.941000	0.38009	0.864000	0.49448	9.465000	0.97660	2.340000	0.79590	0.491000	0.48974	.	AK7	-	-		0.557	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G		Intron	96944801	1	no_errors	ENST00000267584	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	96944801	G	C	96944801	5	2	153	1	0	0	0	0	0	0	1	0	444	956	33	1	1613	1	AK7	14	96944801	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	171568	96944801	10404739	971	26945										
AK7	122481	genome.wustl.edu	37	chr14	96944935	96944935	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgagcaactaccgggacatCaatatcgacgatgagactgt	10	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:96944935C>T	ENST00000267584.4	+	15	1733	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	563	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACCGGGACATCAATATCGACG	0.458																																																	0													98	86	90					14																	96944935		2203	4300	6503	SO:0001819	synonymous_variant	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1689C>T	14.37:g.96944935C>T			Q8IYP6	Silent	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.I563	ENST00000267584.4	37	c.1689	CCDS9945.1	14																																																																																			AK7	-	NULL		0.458	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	C			96944935	1	no_errors	ENST00000267584	ensembl	human	known	70_37	silent	SNP	0.004	T	T	96944935	C	T	96944935	2	4	153	1	0	0	0	0	0	0	0	1	444	816	29	1		1	AK7	14	96944935	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	134	96944935	10404605	972	26946										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102467876	102467876	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctggtttgaattcagataaGagaagtgtggaatacttatg	11	3	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:102467876G>T	ENST00000360184.4	+	21	4564	c.4400G>T	c.(4399-4401)aGa>aTa	p.R1467I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1467	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATTCAGATAAGAGAAGTGTGG	0.418																																																	0													144	135	138					14																	102467876		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4400G>T	14.37:g.102467876G>T	ENSP00000348965:p.Arg1467Ile		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R1467I	ENST00000360184.4	37	c.4400	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777937	0.70107	.	.	ENSG00000197102	ENST00000360184	T	0.61627	0.09	5.72	5.72	0.89469	Dynein heavy chain, domain-2 (1);	0.628588	0.16331	N	0.219135	T	0.73674	0.3617	M	0.79805	2.47	0.80722	D	1	P	0.49696	0.927	P	0.54060	0.741	T	0.70876	-0.4753	10	0.32370	T	0.25	.	19.8745	0.96864	0.0:0.0:1.0:0.0	.	1467	Q14204	DYHC1_HUMAN	I	1467	ENSP00000348965:R1467I	ENSP00000348965:R1467I	R	+	2	0	DYNC1H1	101537629	1.000000	0.71417	0.927000	0.36925	0.285000	0.27093	7.613000	0.82986	2.704000	0.92352	0.467000	0.42956	AGA	DYNC1H1	-	pfam_Dynein_heavy_dom-2		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102467876	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	0.965	T	T	102467876	G	T	102467876	3	4	153	1	0	0	0	0	1	0	0	0	4851	942	33	3	4482	3	DYNC1H1	14	102467876	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5522941	102467876	4881664	973	26947										
C14orf73	91828	genome.wustl.edu	37	chr14	103568655	103568655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agatcggcgccatcgtgcgcGagacgctggacagcgacggt	16	12	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:103568655G>A	ENST00000380069.3	+	2	671	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	199					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CATCGTGCGCGAGACGCTGGA	0.721																																																	0													6	7	7					14																	103568655		2081	4132	6213	SO:0001583	missense	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.595G>A	14.37:g.103568655G>A	ENSP00000369409:p.Glu199Lys		Q14CR2	Missense_Mutation	SNP	pfam_Sec6	p.E199K	ENST00000380069.3	37	c.595	CCDS32163.1	14	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134690	0.56828	.	.	ENSG00000205436	ENST00000380069	T	0.06687	3.27	4.33	4.33	0.51752	.	0.266030	0.30630	N	0.009218	T	0.12220	0.0297	M	0.65975	2.015	0.25367	N	0.988734	P	0.49307	0.922	B	0.43867	0.434	T	0.16100	-1.0414	10	0.29301	T	0.29	-27.8299	12.1913	0.54273	0.0:0.0:1.0:0.0	.	199	Q17RC7	EX3L4_HUMAN	K	199	ENSP00000369409:E199K	ENSP00000369409:E199K	E	+	1	0	EXOC3L4	102638408	0.986000	0.35501	1.000000	0.80357	0.314000	0.28054	4.901000	0.63259	2.230000	0.72887	0.484000	0.47621	GAG	EXOC3L4	-	pfam_Sec6		0.721	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1	G	XM_941093		103568655	1	no_errors	ENST00000380069	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103568655	G	A	103568655	3	1	153	1	0	0	0	0	1	0	0	0	1783	1059	37	1	601	1	C14orf73	14	103568655	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1100779	103568655	3780885	974	26948										
XRCC3	7517	genome.wustl.edu	37	chr14	104165740	104165740	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggctctggaaggcactgctCagctcacgcagcgtggcccc	14	15	3	0	rs566710190		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:104165740C>G	ENST00000553264.1	-	6	1531	c.735G>C	c.(733-735)ctG>ctC	p.L245L	KLC1_ENST00000452929.2_Intron|XRCC3_ENST00000554913.1_Silent_p.L245L|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000554974.1_Silent_p.L40L|XRCC3_ENST00000445556.1_Silent_p.L245L|XRCC3_ENST00000555055.1_Silent_p.L245L|RP11-73M18.8_ENST00000602422.1_RNA|XRCC3_ENST00000352127.7_Silent_p.L245L|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000555832.1_5'Flank|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000557450.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	245					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGCACTGCTCAGCTCACGCA	0.632								Direct reversal of damage;Homologous recombination																																									0													17	20	19					14																	104165740		2202	4296	6498	SO:0001819	synonymous_variant	7517			AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"RAD51-like"	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.735G>C	14.37:g.104165740C>G			O43568|Q9BU18	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,superfamily_RNAP_asu_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L245	ENST00000553264.1	37	c.735	CCDS9984.1	14																																																																																			XRCC3	-	pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd		0.632	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC3	HGNC	protein_coding	OTTHUMT00000414631.1	C	NM_005432		104165740	-1	no_errors	ENST00000352127	ensembl	human	known	70_37	silent	SNP	0.939	G	G	104165740	C	G	104165740	2	3	153	1	0	0	0	0	0	0	0	1	17485	813	29	1		1	XRCC3	14	104165740	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	597085	104165740	3183800	975	26949										
INF2	64423	genome.wustl.edu	37	chr14	105180715	105180715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagggtggtccacggcccctGgagaggcgttcttcctggta	16	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105180715G>A	ENST00000392634.4	+	21	3328	c.3216G>A	c.(3214-3216)ctG>ctA	p.L1072L	INF2_ENST00000330634.7_Silent_p.L1072L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1072					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CACGGCCCCTGGAGAGGCGTT	0.677																																																	0													36	43	41					14																	105180715		1924	4104	6028	SO:0001819	synonymous_variant	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3216G>A	14.37:g.105180715G>A			Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.L1072	ENST00000392634.4	37	c.3216	CCDS9989.2	14																																																																																			INF2	-	NULL		0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	G	NM_022489		105180715	1	no_errors	ENST00000392634	ensembl	human	known	70_37	silent	SNP	0.048	A	A	105180715	G	A	105180715	2	1	153	1	0	0	0	0	0	0	0	1	7754	1335	47	4		4	INF2	14	105180715	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1014975	105180715	2168825	976	26950										
AHNAK2	113146	genome.wustl.edu	37	chr14	105409512	105409512	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgctggacagagacatcttCacatcaggggctgtcacttc	10	11	4	1	rs369701416		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105409512C>T	ENST00000333244.5	-	7	12395	c.12276G>A	c.(12274-12276)gtG>gtA	p.V4092V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4092						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACATCTTCACATCAGGGG	0.602																																																	0													177	178	178					14																	105409512		1897	4119	6016	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12276G>A	14.37:g.105409512C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4092	ENST00000333244.5	37	c.12276	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105409512	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.001	T	T	105409512	C	T	105409512	2	4	153	1	0	0	0	0	0	0	0	1	415	813	29	1		1	AHNAK2	14	105409512	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	228797	105409512	1940028	977	26951										
CDCA4	55038	genome.wustl.edu	37	chr14	105477720	105477720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtagtaggggctgtccacgtCtgagaacagctcttccatgc	12	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105477720C>G	ENST00000336219.3	-	2	702	c.547G>C	c.(547-549)Gac>Cac	p.D183H	CDCA4_ENST00000392590.3_Missense_Mutation_p.D183H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	183						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGTCCACGTCTGAGAACAGC	0.572																																																	0													77	72	74					14																	105477720		2203	4300	6503	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.547G>C	14.37:g.105477720C>G	ENSP00000337226:p.Asp183His		Q8TB18|Q9NWK7	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.D183H	ENST00000336219.3	37	c.547	CCDS9996.1	14	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835917	0.71373	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.44881	0.91;0.91	4.62	4.62	0.57501	.	0.102629	0.64402	D	0.000004	T	0.61438	0.2347	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.67440	-0.5670	10	0.87932	D	0	-6.8069	16.8744	0.86047	0.0:1.0:0.0:0.0	.	183	Q9BXL8	CDCA4_HUMAN	H	183	ENSP00000337226:D183H;ENSP00000376369:D183H	ENSP00000337226:D183H	D	-	1	0	CDCA4	104548765	1.000000	0.71417	0.078000	0.20375	0.567000	0.35839	7.347000	0.79356	2.288000	0.76882	0.650000	0.86243	GAC	CDCA4	-	NULL		0.572	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	C	NM_145701		105477720	-1	no_errors	ENST00000336219	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105477720	C	G	105477720	3	3	153	1	0	0	0	0	1	0	0	0	3093	913	32	1	182	1	CDCA4	14	105477720	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	68208	105477720	1871820	978	26952										
CDCA4	55038	genome.wustl.edu	37	chr14	105478048	105478048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccacgtcccatcctgcgtCatctcctcttggatctgccg	8	18	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105478048C>T	ENST00000336219.3	-	2	374	c.219G>A	c.(217-219)atG>atA	p.M73I	CDCA4_ENST00000392590.3_Missense_Mutation_p.M73I	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	73	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CATCCTGCGTCATCTCCTCTT	0.637																																																	0													53	42	46					14																	105478048		2203	4300	6503	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.219G>A	14.37:g.105478048C>T	ENSP00000337226:p.Met73Ile		Q8TB18|Q9NWK7	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.M73I	ENST00000336219.3	37	c.219	CCDS9996.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315201	0.81358	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.38722	1.12;1.12	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	L	0.35341	1.055	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.54748	-0.8247	10	0.46703	T	0.11	-0.3822	16.8941	0.86095	0.0:1.0:0.0:0.0	.	73	Q9BXL8	CDCA4_HUMAN	I	73	ENSP00000337226:M73I;ENSP00000376369:M73I	ENSP00000337226:M73I	M	-	3	0	CDCA4	104549093	1.000000	0.71417	0.996000	0.52242	0.439000	0.31926	7.134000	0.77268	2.292000	0.77174	0.655000	0.94253	ATG	CDCA4	-	pfam_SERTA,pfscan_SERTA		0.637	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	C	NM_145701		105478048	-1	no_errors	ENST00000336219	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105478048	C	T	105478048	3	4	153	1	0	0	0	0	1	0	0	0	3093	826	29	1	510	1	CDCA4	14	105478048	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	328	105478048	1871492	979	26953										
GABRG3	2567	genome.wustl.edu	37	chr15	27572024	27572024	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcgattcaacagcacaatGaaaattcttactctgaacag	5	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:27572024G>C	ENST00000333743.6	+	4	593	c.339G>C	c.(337-339)atG>atC	p.M113I	GABRG3_ENST00000555083.1_Missense_Mutation_p.M113I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	113					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAGCACAATGAAAATTCTTA	0.453																																					NSCLC(114;800 1656 7410 37729 45293)												0													158	158	158					15																	27572024		1987	4200	6187	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.339G>C	15.37:g.27572024G>C	ENSP00000331912:p.Met113Ile		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M113I	ENST00000333743.6	37	c.339	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998320	0.54147	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.74842	-0.88;-0.88;-0.88	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	L	0.31207	0.915	0.80722	D	1	B;B	0.20988	0.05;0.038	B;B	0.24006	0.05;0.03	T	0.59663	-0.7412	10	0.07325	T	0.83	.	19.016	0.92894	0.0:0.0:1.0:0.0	.	113;113	Q99928;G3V594	GBRG3_HUMAN;.	I	113;113;55	ENSP00000331912:M113I;ENSP00000452244:M113I;ENSP00000451862:M55I	ENSP00000331912:M113I	M	+	3	0	GABRG3	25154770	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.531000	0.98054	2.718000	0.92993	0.650000	0.86243	ATG	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	G			27572024	1	no_errors	ENST00000333743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27572024	G	C	27572024	3	2	153	1	0	0	0	0	1	0	0	0	6191	1290	45	1	353	1	GABRG3	15	27572024	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		27572024	74959368	980	26954										
HERC2	8924	genome.wustl.edu	37	chr15	28517458	28517458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggcgctggtgccctgggcgGaacgctcattgtcagtctcc	15	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:28517458G>A	ENST00000261609.7	-	9	1094	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S329F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTGGGCGGAACGCTCATT	0.542																																																	1	Substitution - Missense(1)	cervix(1)											67	53	58					15																	28517458		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.986C>T	15.37:g.28517458G>A	ENSP00000261609:p.Ser329Phe			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S329F	ENST00000261609.7	37	c.986	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616055	0.87359	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.40543	1.245	0.80722	D	1	P	0.44578	0.838	P	0.47470	0.548	T	0.34675	-0.9819	10	0.46703	T	0.11	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	329	O95714	HERC2_HUMAN	F	329	ENSP00000261609:S329F	ENSP00000261609:S329F	S	-	2	0	HERC2	26191053	1.000000	0.71417	0.460000	0.27093	0.980000	0.70556	9.794000	0.99096	2.641000	0.89580	0.650000	0.86243	TCC	HERC2	-	NULL		0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28517458	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	0.997	A	A	28517458	G	A	28517458	3	1	153	1	0	0	0	0	1	0	0	0	7078	1174	41	1	13858	1	HERC2	15	28517458	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	945434	28517458	74013934	981	26955										
TRPM1	4308	genome.wustl.edu	37	chr15	31294254	31294254	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtaagttttccatcccatttCtgtcagtaatggttagggac	9	8	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:31294254C>A	ENST00000256552.6	-	28	4796	c.4649G>T	c.(4648-4650)aGa>aTa	p.R1550I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1528I|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1567I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1528I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATCCCATTTCTGTCAGTAAT	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											240	219	226					15																	31294254		1938	4148	6086	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4649G>T	15.37:g.31294254C>A	ENSP00000256552:p.Arg1550Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R1567I	ENST00000256552.6	37	c.4700	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878810	0.33162	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52754	0.67;0.65;0.68	4.87	2.96	0.34315	.	0.265027	0.29100	N	0.013160	T	0.34337	0.0894	L	0.29908	0.895	0.22896	N	0.998598	B;B	0.20550	0.046;0.027	B;B	0.22753	0.041;0.027	T	0.35500	-0.9786	10	0.87932	D	0	-16.5745	9.1646	0.37043	0.0:0.7547:0.0:0.2453	.	1522;1528	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	1528;1567;1550;1528	ENSP00000380897:R1528I;ENSP00000437849:R1567I;ENSP00000256552:R1550I	ENSP00000256552:R1550I	R	-	2	0	TRPM1	29081546	0.138000	0.22547	0.028000	0.17463	0.248000	0.25809	0.722000	0.25925	1.173000	0.42796	0.563000	0.77884	AGA	TRPM1	-	NULL		0.433	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31294254	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	0.096	A	A	31294254	C	A	31294254	3	1	153	1	0	0	0	0	1	0	0	0	16616	913	32	3	232	3	TRPM1	15	31294254	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2776796	31294254	71237138	982	26956										
ARHGAP11A	9824	genome.wustl.edu	37	chr15	32917801	32917801	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgaatatgaaactcctggtGaatataagagaaagagaaga	11	3	0	6			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:32917801G>C	ENST00000361627.3	+	6	1551	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E277Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E277Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E88Q|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E88Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	277					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AACTCCTGGTGAATATAAGAG	0.398																																					Colon(45;757 1134 30003 36652)												0													136	137	137					15																	32917801		2201	4300	6501	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.829G>C	15.37:g.32917801G>C	ENSP00000355090:p.Glu277Gln		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E277Q	ENST00000361627.3	37	c.829	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883423	0.33255	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	D;D	0.92752	-3.1;-3.1	5.07	4.14	0.48551	.	0.460298	0.19773	N	0.106400	D	0.89030	0.6599	L	0.44542	1.39	0.37403	D	0.912935	P;P	0.45212	0.814;0.853	B;B	0.40329	0.177;0.326	D	0.89909	0.4050	10	0.46703	T	0.11	.	15.7395	0.77882	0.0:0.1372:0.8628:0.0	.	277;88	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	Q	277;88	ENSP00000355090:E277Q;ENSP00000440073:E88Q	ENSP00000355090:E277Q	E	+	1	0	ARHGAP11A	30705093	1.000000	0.71417	0.985000	0.45067	0.850000	0.48378	5.257000	0.65473	1.229000	0.43630	0.655000	0.94253	GAA	ARHGAP11A	-	NULL		0.398	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	G	NM_014783		32917801	1	no_errors	ENST00000361627	ensembl	human	known	70_37	missense	SNP	0.936	C	C	32917801	G	C	32917801	3	2	153	1	0	0	0	0	1	0	0	0	863	1291	45	1	851	1	ARHGAP11A	15	32917801	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1623547	32917801	69613591	983	26957										
RASGRP1	10125	genome.wustl.edu	37	chr15	38786816	38786816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccaatccaaggctgtgattCagtctgggtggccttgtggg	15	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:38786816C>T	ENST00000310803.5	-	16	2203	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E727K|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000450598.2_Missense_Mutation_p.E641K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E628K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	676					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGCTGTGATTCAGTCTGGGTG	0.542																																																	0													29	31	30					15																	38786816		1928	4115	6043	SO:0001583	missense	10125			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2026G>A	15.37:g.38786816C>T	ENSP00000310244:p.Glu676Lys		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.E676K	ENST00000310803.5	37	c.2026	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507090	0.85282	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000539159	T;D;T	0.82984	-1.38;-1.67;-1.44	5.22	5.22	0.72569	.	0.409080	0.27495	N	0.019107	D	0.83857	0.5345	L	0.27053	0.805	0.58432	D	0.999996	P;B	0.51351	0.944;0.336	P;B	0.55011	0.766;0.268	D	0.85784	0.1363	10	0.72032	D	0.01	-23.8292	18.9728	0.92722	0.0:1.0:0.0:0.0	.	676;641	O95267;O95267-2	GRP1_HUMAN;.	K	676;641;628	ENSP00000310244:E676K;ENSP00000388540:E641K;ENSP00000444762:E628K	ENSP00000310244:E676K	E	-	1	0	RASGRP1	36574108	1.000000	0.71417	0.094000	0.20943	0.740000	0.42216	6.833000	0.75334	2.732000	0.93576	0.650000	0.86243	GAA	RASGRP1	-	NULL		0.542	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	C	NM_005739		38786816	-1	no_errors	ENST00000310803	ensembl	human	known	70_37	missense	SNP	0.986	T	T	38786816	C	T	38786816	3	4	153	1	0	0	0	0	1	0	0	0	13104	835	29	1	375	1	RASGRP1	15	38786816	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5869015	38786816	63744576	984	26958										
GPR176	11245	genome.wustl.edu	37	chr15	40093710	40093710	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgagccaatgtacttggcctCactctcttcctcatcctctg	6	15	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:40093710C>G	ENST00000561100.1	-	3	2036	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	GPR176_ENST00000543580.1_Missense_Mutation_p.E346Q|GPR176_ENST00000299092.3_Missense_Mutation_p.E390Q|GPR176_ENST00000560729.1_5'Flank|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	391					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TACTTGGCCTCACTCTCTTCC	0.582																																																	0													208	191	197					15																	40093710		2203	4300	6503	SO:0001583	missense	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1171G>C	15.37:g.40093710C>G	ENSP00000453076:p.Glu391Gln		Q6NXF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E391Q	ENST00000561100.1	37	c.1171	CCDS10051.1	15	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882902	0.72410	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.80738	-1.41	6.17	6.17	0.99709	.	0.339324	0.35179	N	0.003400	D	0.88328	0.6407	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.85709	0.1318	10	0.41790	T	0.15	-8.6185	20.8794	0.99867	0.0:1.0:0.0:0.0	.	391	Q14439	GP176_HUMAN	Q	391;346	ENSP00000439361:E346Q	ENSP00000299092:E391Q	E	-	1	0	GPR176	37881002	0.997000	0.39634	0.979000	0.43373	0.888000	0.51559	3.560000	0.53763	2.941000	0.99782	0.655000	0.94253	GAG	GPR176	-	NULL		0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	C	NM_007223		40093710	-1	no_errors	ENST00000561100	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40093710	C	G	40093710	3	3	153	1	0	0	0	0	1	0	0	0	6692	835	29	1	380	1	GPR176	15	40093710	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1306894	40093710	62437682	985	26959										
C15orf52	388115	genome.wustl.edu	37	chr15	40632180	40632180	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atccagctctgcgtccttctCctgcctgctcatgggggact	10	15	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:40632180C>G	ENST00000559313.1	-	2	196	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'UTR	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	61							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCGTCCTTCTCCTGCCTGCTC	0.637																																																	0													54	62	59					15																	40632180		2063	4207	6270	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.181G>C	15.37:g.40632180C>G	ENSP00000453969:p.Glu61Gln		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.E61Q	ENST00000559313.1	37	c.181	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255610	0.59321	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.61	3.65	0.41850	.	0.000000	0.44483	D	0.000448	T	0.54791	0.1880	M	0.67953	2.075	0.24505	N	0.994233	D	0.76494	0.999	D	0.64877	0.93	T	0.40831	-0.9542	9	0.31617	T	0.26	-15.3692	9.755	0.40498	0.0:0.7708:0.2292:0.0	.	61	Q6ZUT6	CO052_HUMAN	Q	61	.	ENSP00000372135:E61Q	E	-	1	0	C15orf52	38419472	0.933000	0.31639	1.000000	0.80357	0.582000	0.36321	1.492000	0.35594	2.401000	0.81631	0.462000	0.41574	GAG	C15orf52	-	NULL		0.637	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	C	NM_207380		40632180	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.999	G	G	40632180	C	G	40632180	3	3	153	1	0	0	0	0	1	0	0	0	1804	864	30	1	1463	1	C15orf52	15	40632180	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	538470	40632180	61899212	986	26960										
INO80	54617	genome.wustl.edu	37	chr15	41279304	41279304	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catacgtttcttctccaactCttcgtcgtctagaagaagac	6	12	4	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:41279304C>T	ENST00000361937.3	-	31	4241	c.3817G>A	c.(3817-3819)Gag>Aag	p.E1273K	INO80_ENST00000561244.1_5'UTR|INO80_ENST00000401393.3_Missense_Mutation_p.E1273K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1273	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E1273K(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCTCCAACTCTTCGTCGTCT	0.463																																																	2	Substitution - Missense(2)	lung(2)											132	100	111					15																	41279304		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3817G>A	15.37:g.41279304C>T	ENSP00000355205:p.Glu1273Lys		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1273K	ENST00000361937.3	37	c.3817	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.438661	0.96168	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	T;T	0.08370	3.1;3.1	4.97	4.97	0.65823	.	0.050734	0.85682	D	0.000000	T	0.24928	0.0605	L	0.52364	1.645	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.00201	-1.1926	10	0.66056	D	0.02	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	1273	Q9ULG1	INO80_HUMAN	K	67;1273;1273	ENSP00000355205:E1273K;ENSP00000384686:E1273K	ENSP00000263793:E67K	E	-	1	0	INO80	39066596	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.606000	0.82863	2.753000	0.94483	0.557000	0.71058	GAG	INO80	-	NULL		0.463	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41279304	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41279304	C	T	41279304	3	4	153	1	0	0	0	0	1	0	0	0	7766	922	32	1	877	1	INO80	15	41279304	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	647124	41279304	61252088	987	26961										
VPS39	23339	genome.wustl.edu	37	chr15	42483732	42483732	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaagttcttattggatttctCtagtgtcacttcaaatctgt	7	7	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:42483732C>G	ENST00000348544.4	-	4	198	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	VPS39_ENST00000568357.1_5'UTR|VPS39_ENST00000318006.5_Missense_Mutation_p.E56Q			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	67	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTGGATTTCTCTAGTGTCACT	0.368																																																	0													121	117	118					15																	42483732		2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.199G>C	15.37:g.42483732C>G	ENSP00000335193:p.Glu67Gln		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.E67Q	ENST00000348544.4	37	c.199	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119727	0.77323	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.17528	2.27;2.27	5.86	5.86	0.93980	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.71581	2.175	0.80722	D	1	P;P	0.46784	0.839;0.884	P;B	0.46510	0.519;0.385	T	0.03795	-1.1003	10	0.12766	T	0.61	-25.9882	20.1859	0.98214	0.0:1.0:0.0:0.0	.	67;56	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Q	56;67	ENSP00000326534:E56Q;ENSP00000335193:E67Q	ENSP00000326534:E56Q	E	-	1	0	VPS39	40271024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.763000	0.85283	2.777000	0.95525	0.591000	0.81541	GAG	VPS39	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron		0.368	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	C	NM_015289		42483732	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42483732	C	G	42483732	3	3	153	1	0	0	0	0	1	0	0	0	17240	922	32	1	2553	1	VPS39	15	42483732	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1204428	42483732	60047660	988	26962										
SNAP23	8773	genome.wustl.edu	37	chr15	42805600	42805600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccccccttgtcttagtctCaggatgcaggaatcaagacc	8	13	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:42805600C>G	ENST00000249647.3	+	4	571	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	SNAP23_ENST00000349777.1_Missense_Mutation_p.Q35E|SNAP23_ENST00000397138.1_Missense_Mutation_p.Q35E|SNAP23_ENST00000567094.1_Missense_Mutation_p.Q35E|SNAP23_ENST00000564153.1_Missense_Mutation_p.Q35E	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	35	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GTCTTAGTCTCAGGATGCAGG	0.368																																																	0													126	117	120					15																	42805600		2203	4299	6502	SO:0001583	missense	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.103C>G	15.37:g.42805600C>G	ENSP00000249647:p.Gln35Glu		O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.Q35E	ENST00000249647.3	37	c.103	CCDS10087.1	15	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258414	0.39896	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	T;T;T	0.37058	1.22;1.22;1.22	5.64	5.64	0.86602	Target SNARE coiled-coil domain (2);	0.263170	0.44902	D	0.000406	T	0.28928	0.0718	N	0.20328	0.56	0.49130	D	0.999758	B;B	0.13145	0.001;0.007	B;B	0.11329	0.006;0.004	T	0.03121	-1.1070	10	0.35671	T	0.21	-8.5693	19.6503	0.95798	0.0:1.0:0.0:0.0	.	35;35	O00161-2;O00161	.;SNP23_HUMAN	E	35	ENSP00000249647:Q35E;ENSP00000207062:Q35E;ENSP00000380327:Q35E	ENSP00000249647:Q35E	Q	+	1	0	SNAP23	40592892	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.693000	0.54735	2.803000	0.96430	0.655000	0.94253	CAG	SNAP23	-	smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.368	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP23	HGNC	protein_coding	OTTHUMT00000253111.4	C	NM_003825		42805600	1	no_errors	ENST00000249647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42805600	C	G	42805600	3	3	153	1	0	0	0	0	1	0	0	0	14859	827	29	1	113	1	SNAP23	15	42805600	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	321868	42805600	59725792	989	26963										
LCMT2	9836	genome.wustl.edu	37	chr15	43622163	43622163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtgaggctgcgtcgagcccCgcggcgcccagggcctcctc	16	17	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:43622163C>T	ENST00000305641.5	-	1	640	c.525G>A	c.(523-525)gcG>gcA	p.A175A	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	175					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CGTCGAGCCCCGCGGCGCCCA	0.716																																																	0													22	26	25					15																	43622163		2195	4294	6489	SO:0001819	synonymous_variant	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.525G>A	15.37:g.43622163C>T			Q4JFT6|Q96B55|Q9NR10	Silent	SNP	pfam_LCM_MeTrfase	p.A175	ENST00000305641.5	37	c.525	CCDS10094.1	15																																																																																			LCMT2	-	pfam_LCM_MeTrfase		0.716	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	C	NM_014793		43622163	-1	no_errors	ENST00000305641	ensembl	human	known	70_37	silent	SNP	0.038	T	T	43622163	C	T	43622163	2	4	153	1	0	0	0	0	0	0	0	1	8699	639	23	2		2	LCMT2	15	43622163	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	816563	43622163	58909229	990	26964										
PDIA3	2923	genome.wustl.edu	37	chr15	44038783	44038783	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccgggtgtggcgctgcttCttgccgcggcccgcctcgcc	14	18	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:44038783C>G	ENST00000300289.5	+	1	194	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR|CATSPER2P1_ENST00000381680.2_RNA	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	16					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCGCTGCTTCTTGCCGCGGC	0.716																																																	0													14	14	14					15																	44038783		2019	4025	6044	SO:0001583	missense	2923				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.46C>G	15.37:g.44038783C>G	ENSP00000300289:p.Leu16Val		Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.L16V	ENST00000300289.5	37	c.46	CCDS10101.1	15	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707243	0.48412	.	.	ENSG00000167004	ENST00000300289;ENST00000538826	T	0.04406	3.63	4.94	2.08	0.27032	Thioredoxin-like fold (1);	0.752361	0.12257	N	0.485089	T	0.02727	0.0082	N	0.17278	0.47	0.80722	D	1	P	0.46987	0.888	B	0.35727	0.209	T	0.60576	-0.7236	10	0.30078	T	0.28	.	7.9625	0.30079	0.0:0.7458:0.0:0.2542	.	16	P30101	PDIA3_HUMAN	V	16	ENSP00000300289:L16V	ENSP00000300289:L16V	L	+	1	0	PDIA3	41826075	0.728000	0.28080	0.013000	0.15412	0.033000	0.12548	1.411000	0.34702	0.295000	0.22570	0.313000	0.20887	CTT	PDIA3	-	superfamily_Thioredoxin-like_fold		0.716	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3	C	NM_005313		44038783	1	no_errors	ENST00000300289	ensembl	human	known	70_37	missense	SNP	0.535	G	G	44038783	C	G	44038783	3	3	153	1	0	0	0	0	1	0	0	0	11693	913	32	1	48	1	PDIA3	15	44038783	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	416620	44038783	58492609	991	26965										
AP4E1	23431	genome.wustl.edu	37	chr15	51293237	51293237	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttcagaccattaaaaatctCaagtgacgactttgggaaac	7	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:51293237C>G	ENST00000261842.5	+	20	3216	c.3110C>G	c.(3109-3111)tCa>tGa	p.S1037*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.S962*|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1037					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTAAAAATCTCAAGTGACGAC	0.308																																																	0													73	77	76					15																	51293237		2196	4294	6490	SO:0001587	stop_gained	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3110C>G	15.37:g.51293237C>G	ENSP00000261842:p.Ser1037*		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.S1037*	ENST00000261842.5	37	c.3110	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.204355	0.98704	.	.	ENSG00000081014	ENST00000261842	.	.	.	4.93	3.97	0.46021	.	0.209073	0.42294	D	0.000728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.811	15.7626	0.78096	0.0:0.8515:0.1485:0.0	.	.	.	.	X	1037	.	ENSP00000261842:S1037X	S	+	2	0	AP4E1	49080529	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	3.881000	0.56152	2.570000	0.86706	0.561000	0.74099	TCA	AP4E1	-	pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu		0.308	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	C			51293237	1	no_errors	ENST00000261842	ensembl	human	known	70_37	nonsense	SNP	0.998	G	G	51293237	C	G	51293237	4	3	153	1	0	0	0	0	0	1	0	0	752	838	29	1	3188	1	AP4E1	15	51293237	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7254454	51293237	51238155	992	26966										
DMXL2	23312	genome.wustl.edu	37	chr15	51773272	51773272	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggtctgaggccttctgatCtgattgtttatctttttccc	9	9	4	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:51773272C>G	ENST00000251076.5	-	24	6318	c.6031G>C	c.(6031-6033)Gat>Cat	p.D2011H	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2011H|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1375H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2011						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCCTTCTGATCTGATTGTTTA	0.413																																																	0													175	174	174					15																	51773272		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6031G>C	15.37:g.51773272C>G	ENSP00000251076:p.Asp2011His		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2011H	ENST00000251076.5	37	c.6031	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	7.965	0.747886	0.15710	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77877	-1.13;-1.13;-1.13	5.39	2.32	0.28847	.	0.518632	0.21854	N	0.068128	T	0.74711	0.3752	L	0.50333	1.59	0.09310	N	1	B;P;B;B	0.52842	0.298;0.956;0.198;0.006	B;P;B;B	0.51582	0.258;0.674;0.173;0.022	T	0.64385	-0.6420	10	0.49607	T	0.09	.	5.9804	0.19403	0.0:0.6396:0.1395:0.221	.	2011;1375;2011;2011	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	H	2011;2011;1375	ENSP00000251076:D2011H;ENSP00000441858:D2011H;ENSP00000400855:D1375H	ENSP00000251076:D2011H	D	-	1	0	DMXL2	49560564	0.020000	0.18652	0.002000	0.10522	0.062000	0.15995	1.303000	0.33470	1.257000	0.44085	0.650000	0.86243	GAT	DMXL2	-	NULL		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51773272	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	0.000	G	G	51773272	C	G	51773272	3	3	153	1	0	0	0	0	1	0	0	0	4605	913	32	1	3162	1	DMXL2	15	51773272	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	480035	51773272	50758120	993	26967										
LIPC	3990	genome.wustl.edu	37	chr15	58853062	58853062	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctctctgtctctctctctaGtttatcattaccagttcaag	4	12	7	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:58853062G>C	ENST00000356113.6	+	9	1666		c.e9-1		LIPC_ENST00000299022.5_Splice_Site|LIPC_ENST00000433326.2_Splice_Site|LIPC_ENST00000414170.3_Splice_Site			P11150	LIPC_HUMAN	lipase, hepatic						cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		tctctctctAGTTTATCATTA	0.328																																																	0													60	52	55					15																	58853062		2192	4292	6484	SO:0001630	splice_region_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1052-1G>C	15.37:g.58853062G>C			A2RUB4|A8K9B6|O43571|P78529|Q99465	Splice_Site	SNP	-	e7-1	ENST00000356113.6	37	c.1052-1	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574175	0.86542	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPC	56640354	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	4.316000	0.59178	2.735000	0.93741	0.563000	0.77884	.	LIPC	-	-		0.328	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	G		Intron	58853062	1	no_errors	ENST00000299022	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	58853062	G	C	58853062	5	2	153	1	0	0	0	0	0	0	1	0	8841	1043	36	4	1077	4	LIPC	15	58853062	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	7079790	58853062	43678330	994	26968										
LIPC	3990	genome.wustl.edu	37	chr15	58853088	58853088	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cattaccagttcaagatccaGttcatcaaccaaactgagac	5	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:58853088G>C	ENST00000356113.6	+	9	1692	c.1077G>C	c.(1075-1077)caG>caC	p.Q359H	LIPC_ENST00000299022.5_Missense_Mutation_p.Q359H|LIPC_ENST00000433326.2_Missense_Mutation_p.Q298H|LIPC_ENST00000414170.3_Missense_Mutation_p.Q359H			P11150	LIPC_HUMAN	lipase, hepatic	359	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCAAGATCCAGTTCATCAACC	0.343																																																	0													78	69	72					15																	58853088		2192	4292	6484	SO:0001583	missense	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1077G>C	15.37:g.58853088G>C	ENSP00000348425:p.Gln359His		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.Q359H	ENST00000356113.6	37	c.1077	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.697134	0.00725	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.79	-1.27	0.09347	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.244180	0.42964	N	0.000629	T	0.34483	0.0899	L	0.27975	0.815	0.38812	D	0.955433	B;B	0.23650	0.001;0.089	B;B	0.29942	0.006;0.109	T	0.29912	-0.9996	10	0.02654	T	1	.	0.9531	0.01380	0.3428:0.1948:0.2936:0.1687	.	298;359	E7EUK6;P11150	.;LIPC_HUMAN	H	359;359;359;298	ENSP00000348425:Q359H;ENSP00000395569:Q359H;ENSP00000299022:Q359H;ENSP00000395002:Q298H	ENSP00000299022:Q359H	Q	+	3	2	LIPC	56640380	1.000000	0.71417	0.983000	0.44433	0.102000	0.19082	0.646000	0.24797	-0.108000	0.12066	-0.981000	0.02577	CAG	LIPC	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase		0.343	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	G			58853088	1	no_errors	ENST00000299022	ensembl	human	known	70_37	missense	SNP	0.942	C	C	58853088	G	C	58853088	3	2	153	1	0	0	0	0	1	0	0	0	8841	1020	36	4	1103	4	LIPC	15	58853088	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	26	58853088	43678304	995	26969										
FAM63B	54629	genome.wustl.edu	37	chr15	59064305	59064305	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcggcctccaaggaacgcttCccgggacaatctgtgtatca	11	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59064305C>T	ENST00000559228.1	+	1	793	c.711C>T	c.(709-711)ttC>ttT	p.F237F	FAM63B_ENST00000450403.2_Silent_p.F237F|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	237										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGGAACGCTTCCCGGGACAAT	0.617																																																	0													60	67	65					15																	59064305		2085	4209	6294	SO:0001819	synonymous_variant	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.711C>T	15.37:g.59064305C>T			B2RTT8|Q9ULQ6	Silent	SNP	pfam_DUF544	p.F237	ENST00000559228.1	37	c.711	CCDS42046.1	15																																																																																			FAM63B	-	NULL		0.617	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	C	NM_019092		59064305	1	no_errors	ENST00000559228	ensembl	human	known	70_37	silent	SNP	1.000	T	T	59064305	C	T	59064305	2	4	153	1	0	0	0	0	0	0	0	1	5615	854	30	1		1	FAM63B	15	59064305	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	211217	59064305	43467087	996	26970										
SLTM	79811	genome.wustl.edu	37	chr15	59186369	59186369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcattttctttcttcatttcTttcttagagggatcaccttt	4	9	7	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59186369T>C	ENST00000380516.2	-	11	1488	c.1401A>G	c.(1399-1401)aaA>aaG	p.K467K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.K36K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	467					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTCATTTCTTTCTTAGAGG	0.308																																																	0													80	76	77					15																	59186369		2189	4288	6477	SO:0001819	synonymous_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1401A>G	15.37:g.59186369T>C			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.K467	ENST00000380516.2	37	c.1401	CCDS10168.2	15																																																																																			SLTM	-	NULL		0.308	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	T	NM_024755		59186369	-1	no_errors	ENST00000380516	ensembl	human	known	70_37	silent	SNP	1.000	C	C	59186369	T	C	59186369	2	2	153	1	0	0	0	0	0	0	0	1	14784	1606	56	5		5	SLTM	15	59186369	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	122064	59186369	43345023	997	26971										
RNF111	54778	genome.wustl.edu	37	chr15	59387098	59387098	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagctgccaagtgaaagttGacaccatgtttcagaactct	8	11	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59387098G>C	ENST00000557998.1	+	14	3271	c.2984G>C	c.(2983-2985)tGa>tCa	p.*995S	RNF111_ENST00000559209.1_Nonstop_Mutation_p.*996S|RNF111_ENST00000434298.1_Nonstop_Mutation_p.*1004S|RNF111_ENST00000348370.4_Nonstop_Mutation_p.*987S|RNF111_ENST00000561186.1_Nonstop_Mutation_p.*1004S|RNF111_ENST00000560080.1_3'UTR	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	0					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGTGAAAGTTGACACCATGTT	0.488																																					NSCLC(72;983 1365 10746 34387 47081)												0													225	200	208					15																	59387098		2191	4291	6482	SO:0001578	stop_lost	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2984G>C	15.37:g.59387098G>C	ENSP00000452732:p.*995Serext*57		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonstop_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.*1004S	ENST00000557998.1	37	c.3011	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177684	0.38413	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	S	987;1004	.	.	X	+	2	2	RNF111	57174390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.062000	0.89475	2.666000	0.90696	0.563000	0.77884	TGA	RNF111	-	NULL		0.488	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	G	NM_017610		59387098	1	no_errors	ENST00000434298	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	59387098	G	C	59387098	4	2	153	1	0	0	0	0	0	0	0	0	13455	1285	45	1	3010	1	RNF111	15	59387098	Nonstop_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	200729	59387098	43144294	998	26972										
MYO1E	4643	genome.wustl.edu	37	chr15	59553683	59553683	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgcttgaaagggttgactGagattaatacagatcctata	9	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59553683G>C	ENST00000288235.4	-	3	572	c.173C>G	c.(172-174)tCa>tGa	p.S58*	MYO1E_ENST00000558814.1_Intron	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	58	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGGTTGACTGAGATTAATAC	0.328																																																	0													132	127	129					15																	59553683		2190	4290	6480	SO:0001587	stop_gained	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.173C>G	15.37:g.59553683G>C	ENSP00000288235:p.Ser58*		Q14778	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.S58*	ENST00000288235.4	37	c.173	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.260680	0.97421	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000288235:S58X	S	-	2	0	MYO1E	57340975	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.467000	0.97671	2.802000	0.96397	0.563000	0.77884	TCA	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.328	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59553683	-1	no_errors	ENST00000288235	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	59553683	G	C	59553683	4	2	153	1	0	0	0	0	0	1	0	0	10095	1294	45	1	3257	1	MYO1E	15	59553683	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	166585	59553683	42977709	999	26973										
LACTB	114294	genome.wustl.edu	37	chr15	63433500	63433500	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttatgtttacaataaaaaGaaacgtcttgtcaacacacc	4	8	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:63433500G>C	ENST00000261893.4	+	6	1212	c.1140G>C	c.(1138-1140)aaG>aaC	p.K380N	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	380						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ACAATAAAAAGAAACGTCTTG	0.348																																					Melanoma(85;443 1381 6215 27308 35583)												0													93	91	92					15																	63433500		2203	4300	6503	SO:0001583	missense	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1140G>C	15.37:g.63433500G>C	ENSP00000261893:p.Lys380Asn		P83096	Missense_Mutation	SNP	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.K380N	ENST00000261893.4	37	c.1140	CCDS10182.1	15	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801361	0.31869	.	.	ENSG00000103642	ENST00000261893	T	0.44083	0.93	5.64	2.58	0.30949	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.180261	0.64402	N	0.000014	T	0.24005	0.0581	N	0.20357	0.565	0.80722	D	1	B	0.28400	0.21	B	0.28465	0.09	T	0.04165	-1.0972	10	0.20046	T	0.44	-5.681	8.4571	0.32906	0.141:0.0:0.7238:0.1352	.	380	P83111	LACTB_HUMAN	N	380	ENSP00000261893:K380N	ENSP00000261893:K380N	K	+	3	2	LACTB	61220553	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.304000	0.19228	0.777000	0.33496	0.563000	0.77884	AAG	LACTB	-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like		0.348	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	G	NM_032857		63433500	1	no_errors	ENST00000261893	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63433500	G	C	63433500	3	2	153	1	0	0	0	0	1	0	0	0	8617	933	33	1	1166	1	LACTB	15	63433500	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3879817	63433500	39097892	1000	26974										
SNX1	6642	genome.wustl.edu	37	chr15	64388288	64388288	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccggcctggagccggagtccGagggggcggccgggggatca	21	12	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:64388288G>C	ENST00000559844.1	+	1	90	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	FAM96A_ENST00000557835.1_5'Flank|FAM96A_ENST00000559950.1_5'Flank|FAM96A_ENST00000300030.3_5'Flank|SNX1_ENST00000560829.1_Intron|SNX1_ENST00000353874.4_Missense_Mutation_p.E26Q|FAM96A_ENST00000380290.3_5'Flank|SNX1_ENST00000261889.5_Missense_Mutation_p.E26Q|SNX1_ENST00000561026.1_Missense_Mutation_p.E26Q			Q13596	SNX1_HUMAN	sorting nexin 1	26					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCGGAGTCCGAGGGGGCGGC	0.706																																																	0													9	12	11					15																	64388288		2169	4245	6414	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.76G>C	15.37:g.64388288G>C	ENSP00000453785:p.Glu26Gln		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E26Q	ENST00000559844.1	37	c.76	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032563	0.54790	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T	0.23552	1.9;1.98	5.38	4.4	0.53042	.	0.469100	0.18104	N	0.151591	T	0.23492	0.0568	L	0.34521	1.04	0.27423	N	0.954249	P;B;B;P	0.47910	0.902;0.342;0.299;0.736	P;B;B;B	0.47528	0.549;0.102;0.082;0.426	T	0.03773	-1.1005	10	0.17832	T	0.49	1.9211	11.5479	0.50704	0.0:0.1804:0.8196:0.0	.	26;26;26;26	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	Q	26	ENSP00000326668:E26Q;ENSP00000261889:E26Q	ENSP00000261889:E26Q	E	+	1	0	SNX1	62175341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.202000	0.51067	2.669000	0.90835	0.563000	0.77884	GAG	SNX1	-	pfam_Sorting_nexin_N		0.706	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	G	NM_003099		64388288	1	no_errors	ENST00000559844	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64388288	G	C	64388288	3	2	153	1	0	0	0	0	1	0	0	0	14910	1059	37	1	78	1	SNX1	15	64388288	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	954788	64388288	38143104	1001	26975										
RASL12	51285	genome.wustl.edu	37	chr15	65350926	65350926	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggaaggcatgggcccagttCaggtagcgctcgcagttcct	14	11	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:65350926C>T	ENST00000220062.4	-	4	540	c.264G>A	c.(262-264)ctG>ctA	p.L88L	RASL12_ENST00000434605.2_Silent_p.L77L|RASL12_ENST00000421977.3_Silent_p.L69L	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	88					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGGCCCAGTTCAGGTAGCGCT	0.647																																																	0													49	46	47					15																	65350926		2202	4299	6501	SO:0001819	synonymous_variant	51285			AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.264G>A	15.37:g.65350926C>T			B2RC29|B4DJW2|B4DU82	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L88	ENST00000220062.4	37	c.264	CCDS10200.1	15																																																																																			RASL12	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.647	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL12	HGNC	protein_coding	OTTHUMT00000256782.2	C	NM_016563		65350926	-1	no_errors	ENST00000220062	ensembl	human	known	70_37	silent	SNP	0.985	T	T	65350926	C	T	65350926	2	4	153	1	0	0	0	0	0	0	0	1	13113	813	29	1		1	RASL12	15	65350926	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	962638	65350926	37180466	1002	26976										
RPL4	6124	genome.wustl.edu	37	chr15	66792466	66792466	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttagcttcaacatgattctCaagtttttcagtgggttctt	7	7	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:66792466C>G	ENST00000307961.6	-	9	1058	c.966G>C	c.(964-966)ttG>ttC	p.L322F	SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.L228F|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	322					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACATGATTCTCAAGTTTTTCA	0.393																																																	0													104	94	97					15																	66792466		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.966G>C	15.37:g.66792466C>G	ENSP00000311430:p.Leu322Phe		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.L322F	ENST00000307961.6	37	c.966	CCDS10218.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232952|2.232952	0.39498|0.39498	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.54854|0.54854	0.1884|0.1884	M|M	0.62016|0.62016	1.91|1.91	0.54753|0.54753	D|D	0.999989|0.999989	.|B	.|0.17038	.|0.02	.|B	.|0.17979	.|0.02	T|T	0.45396|0.45396	-0.9264|-0.9264	6|9	0.49607|0.15066	T|T	0.09|0.55	-5.4162|-5.4162	10.8529|10.8529	0.46780|0.46780	0.0:0.7983:0.1307:0.071|0.0:0.7983:0.1307:0.071	.|.	.|322	.|P36578	.|RL4_HUMAN	Q|F	122|322	.|.	ENSP00000403183:E122Q|ENSP00000311430:L322F	E|L	-|-	1|3	0|2	RPL4|RPL4	64579520|64579520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.865000|1.865000	0.39479|0.39479	0.580000|0.580000	0.29522|0.29522	0.655000|0.655000	0.94253|0.94253	GAG|TTG	RPL4	-	NULL		0.393	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	C	NM_000968		66792466	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66792466	C	G	66792466	3	3	153	1	0	0	0	0	1	0	0	0	13625	825	29	1	325	1	RPL4	15	66792466	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1441540	66792466	35738926	1003	26977										
LCTL	197021	genome.wustl.edu	37	chr15	66857046	66857046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtagccgtcacaggctacatCtgccgtctcattcccaagca	8	15	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:66857046C>G	ENST00000341509.5	-	2	381	c.250G>C	c.(250-252)Gat>Cat	p.D84H	LCTL_ENST00000537670.1_Intron|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	84					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCTACATCTGCCGTCTCA	0.602																																																	0													199	130	154					15																	66857046		2201	4299	6500	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.250G>C	15.37:g.66857046C>G	ENSP00000343490:p.Asp84His		B3KQY0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.D84H	ENST00000341509.5	37	c.250	CCDS10220.1	15	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443155	0.63067	.	.	ENSG00000188501	ENST00000341509	T	0.45276	0.9	5.28	5.28	0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049250	0.85682	D	0.000000	T	0.72455	0.3462	M	0.93106	3.38	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.80374	-0.1409	10	0.87932	D	0	-16.8446	17.5018	0.87734	0.0:1.0:0.0:0.0	.	84	Q6UWM7	LCTL_HUMAN	H	84	ENSP00000343490:D84H	ENSP00000343490:D84H	D	-	1	0	LCTL	64644100	1.000000	0.71417	0.857000	0.33713	0.063000	0.16089	7.409000	0.80053	2.472000	0.83506	0.563000	0.77884	GAT	LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.602	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2	C	NM_207338		66857046	-1	no_errors	ENST00000341509	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66857046	C	G	66857046	3	3	153	1	0	0	0	0	1	0	0	0	8714	913	32	1	1501	1	LCTL	15	66857046	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	64580	66857046	35674346	1004	26978										
ITGA11	22801	genome.wustl.edu	37	chr15	68613817	68613817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggacacagtgctcatcctCattgcagccgttccagaagg	11	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:68613817C>G	ENST00000315757.7	-	19	2433	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	ITGA11_ENST00000423218.2_Missense_Mutation_p.E783Q	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	783					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGCTCATCCTCATTGCAGCCG	0.652																																																	0													46	57	53					15																	68613817		2117	4224	6341	SO:0001583	missense	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2347G>C	15.37:g.68613817C>G	ENSP00000327290:p.Glu783Gln		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E783Q	ENST00000315757.7	37	c.2347	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818986	0.32145	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.52526	0.66;0.66	5.21	4.27	0.50696	Integrin alpha-2 (1);	0.097518	0.64402	N	0.000001	T	0.38692	0.1050	L	0.37507	1.11	0.40597	D	0.981542	B;B	0.26672	0.156;0.07	B;B	0.29267	0.1;0.078	T	0.18745	-1.0327	10	0.27082	T	0.32	.	13.306	0.60352	0.0:0.6964:0.3036:0.0	.	783;783	A8K8T0;Q9UKX5	.;ITA11_HUMAN	Q	783;783;418	ENSP00000327290:E783Q;ENSP00000403392:E783Q	ENSP00000327290:E783Q	E	-	1	0	ITGA11	66400871	0.540000	0.26410	0.998000	0.56505	0.989000	0.77384	1.046000	0.30354	1.156000	0.42514	0.561000	0.74099	GAG	ITGA11	-	pfam_Integrin_alpha-2		0.652	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		C	NM_012211		68613817	-1	no_errors	ENST00000315757	ensembl	human	known	70_37	missense	SNP	0.989	G	G	68613817	C	G	68613817	3	3	153	1	0	0	0	0	1	0	0	0	7894	835	29	1	1267	1	ITGA11	15	68613817	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1756771	68613817	33917575	1005	26979										
UACA	55075	genome.wustl.edu	37	chr15	70959653	70959653	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attttcaattgtgccattaaGagattttttcagagcctcaa	6	7	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:70959653G>A	ENST00000322954.6	-	16	3555	c.3370C>T	c.(3370-3372)Ctt>Ttt	p.L1124F	UACA_ENST00000539319.1_Missense_Mutation_p.L1015F|UACA_ENST00000560441.1_Missense_Mutation_p.L1109F|UACA_ENST00000379983.2_Missense_Mutation_p.L1111F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1124					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTGCCATTAAGAGATTTTTTC	0.383																																																	0													112	114	114					15																	70959653		2199	4274	6473	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3370C>T	15.37:g.70959653G>A	ENSP00000314556:p.Leu1124Phe		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L1124F	ENST00000322954.6	37	c.3370	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356288	0.82243	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.46063	0.91;0.88;1.32	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000039	T	0.67618	0.2912	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.69045	-0.5249	10	0.72032	D	0.01	-10.4725	19.9915	0.97366	0.0:0.0:1.0:0.0	.	1015;1124;1124;1111	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	F	1124;1111;1015	ENSP00000314556:L1124F;ENSP00000369319:L1111F;ENSP00000438667:L1015F	ENSP00000314556:L1124F	L	-	1	0	UACA	68746707	1.000000	0.71417	0.918000	0.36340	0.974000	0.67602	7.001000	0.76297	2.723000	0.93209	0.655000	0.94253	CTT	UACA	-	NULL		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	G			70959653	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70959653	G	A	70959653	3	1	153	1	0	0	0	0	1	0	0	0	16855	942	33	1	896	1	UACA	15	70959653	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2345836	70959653	31571739	1006	26980										
MYO9A	4649	genome.wustl.edu	37	chr15	72142438	72142438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agtggtgtcagggcagcggaGaatgcagggcgcaaacacaa	16	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72142438G>C	ENST00000356056.5	-	38	7124	c.6652C>G	c.(6652-6654)Ctc>Gtc	p.L2218V	MYO9A_ENST00000564571.1_Missense_Mutation_p.L2218V|MYO9A_ENST00000444904.1_Missense_Mutation_p.L2199V|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2289V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2218	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGCAGCGGAGAATGCAGGGC	0.448																																																	0													270	219	236					15																	72142438		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6652C>G	15.37:g.72142438G>C	ENSP00000348349:p.Leu2218Val		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L2289V	ENST00000356056.5	37	c.6865	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923115	0.73213	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.23552	1.9;1.9;1.9	5.93	5.93	0.95920	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.54351	0.1853	M	0.72118	2.19	0.80722	D	1	B;D	0.89917	0.083;1.0	B;D	0.83275	0.097;0.996	T	0.53187	-0.8474	9	0.87932	D	0	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	2218;1982	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	V	2218;2289;2199	ENSP00000348349:L2218V;ENSP00000399162:L2289V;ENSP00000398250:L2199V	ENSP00000348349:L2218V	L	-	1	0	MYO9A	69929492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.810000	0.96702	0.655000	0.94253	CTC	MYO9A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72142438	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72142438	G	C	72142438	3	2	153	1	0	0	0	0	1	0	0	0	10107	942	33	1	1014	1	MYO9A	15	72142438	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1182785	72142438	30388954	1007	26981										
MYO9A	4649	genome.wustl.edu	37	chr15	72311419	72311419	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taatcatcccagctctgtctGaggggtttctttgttatctg	9	9	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72311419G>C	ENST00000356056.5	-	6	1588	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	MYO9A_ENST00000564571.1_Silent_p.L372L|MYO9A_ENST00000444904.1_Intron|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_Intron|MYO9A_ENST00000424560.1_Silent_p.L372L|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	372	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCTCTGTCTGAGGGGTTTCT	0.398																																																	0													139	135	136					15																	72311419		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1116C>G	15.37:g.72311419G>C			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L372	ENST00000356056.5	37	c.1116	CCDS10239.1	15																																																																																			MYO9A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72311419	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	silent	SNP	1.000	C	C	72311419	G	C	72311419	2	2	153	1	0	0	0	0	0	0	0	1	10107	1277	45	1		1	MYO9A	15	72311419	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	168981	72311419	30219973	1008	26982										
GRAMD2	196996	genome.wustl.edu	37	chr15	72454718	72454718	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacatgaccaggaagcagatCctgaagaaagcggcaatacg	12	9	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72454718C>T	ENST00000309731.7	-	11	970	c.957G>A	c.(955-957)ctG>ctA	p.L319L	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	319						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGAAGCAGATCCTGAAGAAAG	0.507																																																	0													79	68	72					15																	72454718		2199	4297	6496	SO:0001630	splice_region_variant	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.957-1G>A	15.37:g.72454718C>T			B3KT68	Silent	SNP	pfam_GRAM,smart_GRAM	p.L319	ENST00000309731.7	37	c.957	CCDS32283.1	15																																																																																			GRAMD2	-	NULL		0.507	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	C	NM_001012642	Silent	72454718	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72454718	C	T	72454718	5	4	153	1	0	0	0	0	0	0	1	0	6770	869	30	1	115	1	GRAMD2	15	72454718	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	143299	72454718	30076674	1009	26983										
TMEM202	338949	genome.wustl.edu	37	chr15	72700113	72700113	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtgattccaacagagagatCaaggctgggggttggtccgg	16	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72700113C>G	ENST00000341689.3	+	5	755	c.701C>G	c.(700-702)tCa>tGa	p.S234*	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	234						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACAGAGAGATCAAGGCTGGGG	0.458																																																	0													89	85	86					15																	72700113		2199	4297	6496	SO:0001587	stop_gained	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.701C>G	15.37:g.72700113C>G	ENSP00000340212:p.Ser234*			Nonsense_Mutation	SNP	NULL	p.S234*	ENST00000341689.3	37	c.701	CCDS32287.1	15	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818168	0.32145	.	.	ENSG00000187806	ENST00000341689	.	.	.	4.31	3.38	0.38709	.	0.787227	0.10836	N	0.628812	.	.	.	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.0297	9.7872	0.40684	0.2045:0.7955:0.0:0.0	.	.	.	.	X	234	.	ENSP00000340212:S234X	S	+	2	0	TMEM202	70487167	0.219000	0.23619	0.401000	0.26359	0.181000	0.23173	1.570000	0.36439	1.132000	0.42129	0.561000	0.74099	TCA	TMEM202	-	NULL		0.458	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	C	NM_001080462		72700113	1	no_errors	ENST00000341689	ensembl	human	known	70_37	nonsense	SNP	0.210	G	G	72700113	C	G	72700113	4	3	153	1	0	0	0	0	0	1	0	0	16157	838	29	1	719	1	TMEM202	15	72700113	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	245395	72700113	29831279	1010	26984										
NEO1	4756	genome.wustl.edu	37	chr15	73409150	73409150	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcagtgtgtggccactgttGagagtcttggaactattatc	11	7	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:73409150G>A	ENST00000339362.5	+	3	847	c.400G>A	c.(400-402)Gag>Aag	p.E134K	NEO1_ENST00000261908.6_Missense_Mutation_p.E134K|NEO1_ENST00000558964.1_Missense_Mutation_p.E134K|NEO1_ENST00000560262.1_Missense_Mutation_p.E134K			Q92859	NEO1_HUMAN	neogenin 1	134	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGCCACTGTTGAGAGTCTTGG	0.363																																																	0													101	102	101					15																	73409150		2198	4296	6494	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.400G>A	15.37:g.73409150G>A	ENSP00000341198:p.Glu134Lys		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E134K	ENST00000339362.5	37	c.400	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362077	0.82353	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.12039	2.72;2.72	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196595	0.53938	D	0.000058	T	0.17534	0.0421	L	0.38175	1.15	0.80722	D	1	B;B;B	0.31054	0.306;0.043;0.174	B;B;B	0.38985	0.287;0.143;0.201	T	0.06935	-1.0799	10	0.17369	T	0.5	-5.4489	20.33	0.98713	0.0:0.0:1.0:0.0	.	134;134;134	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	K	134	ENSP00000341198:E134K;ENSP00000261908:E134K	ENSP00000261908:E134K	E	+	1	0	NEO1	71196203	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GAG	NEO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.363	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	G	NM_002499		73409150	1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73409150	G	A	73409150	3	1	153	1	0	0	0	0	1	0	0	0	10360	1291	45	1	406	1	NEO1	15	73409150	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	709037	73409150	29122242	1011	26985										
CSPG4	1464	genome.wustl.edu	37	chr15	75981682	75981682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cataggcctggaaaacctcaGgccccagcggcttctgcgtg	12	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:75981682G>A	ENST00000308508.5	-	3	1816	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	575	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAAACCTCAGGCCCCAGCGG	0.627																																																	0													29	32	31					15																	75981682		2196	4292	6488	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1724C>T	15.37:g.75981682G>A	ENSP00000312506:p.Pro575Leu		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.P575L	ENST00000308508.5	37	c.1724	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436033	0.25813	.	.	ENSG00000173546	ENST00000308508	T	0.19532	2.14	5.35	5.35	0.76521	.	0.180091	0.38663	N	0.001613	T	0.44074	0.1276	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.34725	-0.9817	10	0.62326	D	0.03	.	13.4418	0.61117	0.0782:0.0:0.9218:0.0	.	575	Q6UVK1	CSPG4_HUMAN	L	575	ENSP00000312506:P575L	ENSP00000312506:P575L	P	-	2	0	CSPG4	73768737	1.000000	0.71417	0.942000	0.38095	0.053000	0.15095	4.574000	0.60900	2.498000	0.84270	0.555000	0.69702	CCT	CSPG4	-	NULL		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75981682	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.998	A	A	75981682	G	A	75981682	3	1	153	1	0	0	0	0	1	0	0	0	3965	1000	35	4	5276	4	CSPG4	15	75981682	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2572532	75981682	26549710	1012	26986										
SCAPER	49855	genome.wustl.edu	37	chr15	76998282	76998282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgtaactcttccatagcttCttgttgagcagctgtgagtg	10	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:76998282C>T	ENST00000563290.1	-	18	2304	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	SCAPER_ENST00000538941.2_Missense_Mutation_p.E491K|SCAPER_ENST00000324767.7_Missense_Mutation_p.E737K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	737	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCCATAGCTTCTTGTTGAGCA	0.338																																																	0													42	38	39					15																	76998282		1789	4059	5848	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2209G>A	15.37:g.76998282C>T	ENSP00000454973:p.Glu737Lys		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.E737K	ENST00000563290.1	37	c.2209	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.325274	0.95708	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25912	1.8;1.77	5.72	5.72	0.89469	.	0.042275	0.85682	D	0.000000	T	0.40862	0.1134	L	0.31926	0.97	0.58432	D	0.999999	D;D;D	0.76494	0.99;0.999;0.983	P;D;P	0.68483	0.852;0.958;0.893	T	0.03278	-1.1053	10	0.25751	T	0.34	.	19.879	0.96888	0.0:1.0:0.0:0.0	.	736;758;491	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	K	737;491;759	ENSP00000326924:E737K;ENSP00000442190:E491K	ENSP00000303560:E759K	E	-	1	0	SCAPER	74785337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.050000	0.76620	2.695000	0.91970	0.655000	0.94253	GAA	SCAPER	-	NULL		0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		76998282	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76998282	C	T	76998282	3	4	153	1	0	0	0	0	1	0	0	0	13908	922	32	1	2053	1	SCAPER	15	76998282	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1016600	76998282	25533110	1013	26987										
WDR61	80349	genome.wustl.edu	37	chr15	78577611	78577611	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataatgccatacctgatcctGgtgatcaaagaaggtgtgaa	10	7	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:78577611G>A	ENST00000267973.2	-	10	1091	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	WDR61_ENST00000558459.1_Nonsense_Mutation_p.Q181*|WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558311.1_Nonsense_Mutation_p.Q274*			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	274					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACCTGATCCTGGTGATCAAAG	0.383																																																	0													140	118	125					15																	78577611		2196	4293	6489	SO:0001587	stop_gained	80349				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.820C>T	15.37:g.78577611G>A	ENSP00000267973:p.Gln274*		D3DW84|Q6IA22|Q7Z4X4	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q274*	ENST00000267973.2	37	c.820	CCDS10300.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.477597	0.98309	.	.	ENSG00000140395	ENST00000267973	.	.	.	5.8	5.8	0.92144	.	0.246806	0.42548	D	0.000693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-9.2218	19.0512	0.93046	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000267973:Q274X	Q	-	1	0	WDR61	76364666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.382000	0.97209	2.735000	0.93741	0.655000	0.94253	CAG	WDR61	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.383	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR61	HGNC	protein_coding	OTTHUMT00000289803.3	G	NM_025234		78577611	-1	no_errors	ENST00000267973	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	78577611	G	A	78577611	4	1	153	1	0	0	0	0	0	1	0	0	17343	1357	47	4	105	4	WDR61	15	78577611	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1579329	78577611	23953781	1014	26988										
CTSH	1512	genome.wustl.edu	37	chr15	79217722	79217722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catgaagtcctgagtcacctCaaaggcaaagctcacagggt	10	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:79217722C>G	ENST00000220166.5	-	10	869	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	254					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TGAGTCACCTCAAAGGCAAAG	0.572																																																	0													106	81	90					15																	79217722		2196	4293	6489	SO:0001583	missense	1512			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.760G>C	15.37:g.79217722C>G	ENSP00000220166:p.Glu254Gln		B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E254Q	ENST00000220166.5	37	c.760	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869752	0.51588	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	T	0.22743	1.94	5.25	5.25	0.73442	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	N	0.21324	0.655	0.53005	D	0.999964	D;D	0.63046	0.992;0.977	P;P	0.54965	0.765;0.765	T	0.02009	-1.1230	10	0.72032	D	0.01	.	14.3354	0.66586	0.0:1.0:0.0:0.0	.	254;242	P09668;E9PBP2	CATH_HUMAN;.	Q	254;242	ENSP00000220166:E254Q	ENSP00000220166:E254Q	E	-	1	0	CTSH	77004777	0.993000	0.37304	0.999000	0.59377	0.541000	0.35023	2.885000	0.48570	2.465000	0.83290	0.467000	0.42956	GAG	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.572	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	C	NM_004390		79217722	-1	no_errors	ENST00000220166	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79217722	C	G	79217722	3	3	153	1	0	0	0	0	1	0	0	0	4041	835	29	1	259	1	CTSH	15	79217722	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	640111	79217722	23313670	1015	26989										
CPEB1	64506	genome.wustl.edu	37	chr15	83224721	83224721	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acacagaagctcctggccatCtctttgaagcactggttggg	11	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:83224721C>G	ENST00000562019.1	-	5	1074	c.758G>C	c.(757-759)aGa>aCa	p.R253T	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.R256T|CPEB1_ENST00000563800.1_Missense_Mutation_p.R280T|CPEB1_ENST00000568128.1_Missense_Mutation_p.R253T|CPEB1_ENST00000398591.2_Missense_Mutation_p.R178T|CPEB1_ENST00000568757.1_Missense_Mutation_p.R178T|CPEB1_ENST00000423133.2_Missense_Mutation_p.R178T|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000450751.2_Missense_Mutation_p.R178T|CPEB1_ENST00000398592.2_Missense_Mutation_p.R27T|CPEB1_ENST00000564522.1_Missense_Mutation_p.R178T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	253					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCTGGCCATCTCTTTGAAGC	0.587																																																	0													52	54	53					15																	83224721		1963	4134	6097	SO:0001583	missense	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.758G>C	15.37:g.83224721C>G	ENSP00000457836:p.Arg253Thr		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.R253T	ENST00000562019.1	37	c.758		15	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472335	0.63737	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.66	4.75	0.60458	.	0.058732	0.64402	U	0.000004	T	0.12220	0.0297	L	0.50333	1.59	0.48762	D	0.999704	P;P;P;P	0.42692	0.763;0.787;0.763;0.763	B;P;B;B	0.44359	0.288;0.447;0.288;0.288	T	0.01444	-1.1353	10	0.66056	D	0.02	-10.0635	11.4663	0.50241	0.0:0.8558:0.0:0.1442	.	256;253;253;253	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	T	253;253;178;178;256;27	ENSP00000397526:R178T;ENSP00000381591:R178T;ENSP00000261723:R256T;ENSP00000381592:R27T	ENSP00000261723:R256T	R	-	2	0	CPEB1	81021776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.883000	0.48554	1.392000	0.46585	0.655000	0.94253	AGA	CPEB1	-	NULL		0.587	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	C	NM_030594		83224721	-1	no_errors	ENST00000562019	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83224721	C	G	83224721	3	3	153	1	0	0	0	0	1	0	0	0	3805	913	32	1	974	1	CPEB1	15	83224721	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4006999	83224721	19306671	1016	26990										
TM6SF1	53346	genome.wustl.edu	37	chr15	83776462	83776462	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgcggccaccggggtcttCgtgctgtccctctcggccat	12	16	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:83776462C>T	ENST00000322019.9	+	1	304	c.30C>T	c.(28-30)ttC>ttT	p.F10F	TM6SF1_ENST00000565774.1_Silent_p.F10F|TM6SF1_ENST00000379386.4_Silent_p.F10F|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Silent_p.F10F			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	10						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCGGGGTCTTCGTGCTGTCCC	0.751																																																	0													27	26	26					15																	83776462		2200	4299	6499	SO:0001819	synonymous_variant	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.30C>T	15.37:g.83776462C>T			A8K7T5|H3BU56|Q4U0U5	Silent	SNP	pfam_Transmembrane_6/97	p.F10	ENST00000322019.9	37	c.30	CCDS10323.1	15																																																																																			TM6SF1	-	NULL		0.751	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1	C	NM_023003		83776462	1	no_errors	ENST00000379386	ensembl	human	known	70_37	silent	SNP	1.000	T	T	83776462	C	T	83776462	2	4	153	1	0	0	0	0	0	0	0	1	16002	883	31	1		1	TM6SF1	15	83776462	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	551741	83776462	18754930	1017	26991										
AKAP13	11214	genome.wustl.edu	37	chr15	86128965	86128965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaaagctgaagatgaagtgGattttagagcaagttcaatt	11	3	1	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:86128965G>C	ENST00000394518.2	+	8	4167	c.4072G>C	c.(4072-4074)Gat>Cat	p.D1358H	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1358H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1358					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGATGAAGTGGATTTTAGAGC	0.438																																					Melanoma(94;603 1453 3280 32295 32951)												0													120	114	116					15																	86128965		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4072G>C	15.37:g.86128965G>C	ENSP00000378026:p.Asp1358His		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D1358H	ENST00000394518.2	37	c.4072	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772894	0.69992	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.57436	0.4;0.4	5.77	4.86	0.63082	.	.	.	.	.	T	0.69269	0.3092	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72347	-0.4321	9	0.87932	D	0	.	10.7507	0.46207	0.0874:0.0:0.9126:0.0	.	1358;1358	Q12802;Q12802-2	AKP13_HUMAN;.	H	1358;1358;1357;1357	ENSP00000354718:D1358H;ENSP00000378026:D1358H	ENSP00000354718:D1358H	D	+	1	0	AKAP13	83929969	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.668000	0.54554	1.450000	0.47717	0.591000	0.81541	GAT	AKAP13	-	NULL		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86128965	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86128965	G	C	86128965	3	2	153	1	0	0	0	0	1	0	0	0	449	1174	41	1	4098	1	AKAP13	15	86128965	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2352503	86128965	16402427	1018	26992										
ACAN	176	genome.wustl.edu	37	chr15	89402424	89402424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaaatcagcggagacctgtCtggtcacacctcgcagctgg	12	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:89402424C>G	ENST00000561243.1	+	11	6608	c.6608C>G	c.(6607-6609)tCt>tGt	p.S2203C	ACAN_ENST00000559004.1_Missense_Mutation_p.S2203C|ACAN_ENST00000352105.7_Missense_Mutation_p.S2203C|ACAN_ENST00000439576.2_Missense_Mutation_p.S2203C			P16112	PGCA_HUMAN	aggrecan	2088	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGACCTGTCTGGTCACACC	0.592																																																	0													48	54	52					15																	89402424		2104	4224	6328	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6608C>G	15.37:g.89402424C>G	ENSP00000453342:p.Ser2203Cys		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S2203C	ENST00000561243.1	37	c.6608	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296300	0.60086	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03301	3.98;4.06	5.11	5.11	0.69529	.	0.266274	0.20185	N	0.097426	T	0.18509	0.0444	M	0.71581	2.175	0.27682	N	0.946418	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	T	0.00681	-1.1612	10	0.66056	D	0.02	-5.1343	17.6179	0.88072	0.0:1.0:0.0:0.0	.	2203;2203	E7ENV9;E7EX88	.;.	C	2203;2203;2089	ENSP00000387356:S2203C;ENSP00000341615:S2203C	ENSP00000268134:S2089C	S	+	2	0	ACAN	87203428	0.925000	0.31364	0.865000	0.33974	0.657000	0.38888	1.400000	0.34577	2.395000	0.81488	0.549000	0.68633	TCT	ACAN	-	NULL		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	C	NM_001135		89402424	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	0.997	G	G	89402424	C	G	89402424	3	3	153	1	0	0	0	0	1	0	0	0	117	913	32	1	6650	1	ACAN	15	89402424	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3273459	89402424	13128968	1019	26993										
SEMA4B	10509	genome.wustl.edu	37	chr15	90768586	90768586	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaggagctgcagatcttctCatcgggacagcccgtgcaga	13	11	2	3	rs367772033		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:90768586C>G	ENST00000411539.2	+	11	1738	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	SEMA4B_ENST00000379122.3_Nonsense_Mutation_p.S488*|SEMA4B_ENST00000332496.6_Nonsense_Mutation_p.S493*	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	488	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CAGATCTTCTCATCGGGACAG	0.637																																																	0													38	45	42					15																	90768586		2027	4163	6190	SO:0001587	stop_gained	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1478C>G	15.37:g.90768586C>G	ENSP00000394720:p.Ser493*		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S493*	ENST00000411539.2	37	c.1478	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529916	0.45073	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	.	.	.	5.37	3.44	0.39384	.	0.929598	0.09071	N	0.852906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.1424	0.25564	0.3283:0.5926:0.0:0.0791	.	.	.	.	X	493;488;493	.	ENSP00000332204:S493X	S	+	2	0	SEMA4B	88569590	0.000000	0.05858	0.021000	0.16686	0.127000	0.20565	0.895000	0.28363	0.600000	0.29862	0.561000	0.74099	TCA	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.637	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90768586	1	no_errors	ENST00000332496	ensembl	human	known	70_37	nonsense	SNP	0.587	G	G	90768586	C	G	90768586	4	3	153	1	0	0	0	0	0	1	0	0	14062	838	29	1	1520	1	SEMA4B	15	90768586	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1366162	90768586	11762806	1020	26994										
UNC45A	55898	genome.wustl.edu	37	chr15	91483039	91483039	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acccagaagagaagggcactGagaaaaagcaaaaggtatag	12	6	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:91483039G>A	ENST00000418476.2	+	5	545	c.505G>A	c.(505-507)Gag>Aag	p.E169K	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000394275.2_Missense_Mutation_p.E154K	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	169					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAAGGGCACTGAGAAAAAGCA	0.527																																																	0													101	90	94					15																	91483039		2198	4298	6496	SO:0001583	missense	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.505G>A	15.37:g.91483039G>A	ENSP00000407487:p.Glu169Lys		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E169K	ENST00000418476.2	37	c.505	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680964	0.88542	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.52057	0.68;0.68	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.424190	0.26362	N	0.024811	T	0.54598	0.1868	L	0.55990	1.75	0.54753	D	0.999986	D;D;P;P	0.59357	0.958;0.985;0.842;0.842	B;P;B;B	0.48654	0.395;0.585;0.237;0.15	T	0.55068	-0.8198	10	0.54805	T	0.06	-38.1286	19.057	0.93069	0.0:0.0:1.0:0.0	.	169;161;169;154	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	K	154;169	ENSP00000377816:E154K;ENSP00000407487:E169K	ENSP00000377816:E154K	E	+	1	0	UNC45A	89284043	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	5.378000	0.66190	2.804000	0.96469	0.650000	0.86243	GAG	UNC45A	-	superfamily_ARM-type_fold		0.527	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	G	NM_018671		91483039	1	no_errors	ENST00000418476	ensembl	human	known	70_37	missense	SNP	0.998	A	A	91483039	G	A	91483039	3	1	153	1	0	0	0	0	1	0	0	0	17019	1291	45	1	523	1	UNC45A	15	91483039	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	714453	91483039	11048353	1021	26995										
CHD2	1106	genome.wustl.edu	37	chr15	93485094	93485094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagactgactcagatgatctCattgaaatgactggagaagg	12	6	2	7			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:93485094C>T	ENST00000394196.4	+	8	1803	c.735C>T	c.(733-735)ctC>ctT	p.L245L	CHD2_ENST00000557381.1_Silent_p.L245L|CHD2_ENST00000420239.2_Silent_p.L245L|CHD2_ENST00000536619.1_Silent_p.L258L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	245					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGATGATCTCATTGAAATGA	0.358																																																	0													88	85	86					15																	93485094		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.735C>T	15.37:g.93485094C>T			C6G482|Q96IP5	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L245	ENST00000394196.4	37	c.735	CCDS10374.2	15																																																																																			CHD2	-	NULL		0.358	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	C	NM_001271		93485094	1	no_errors	ENST00000420239	ensembl	human	known	70_37	silent	SNP	1.000	T	T	93485094	C	T	93485094	2	4	153	1	0	0	0	0	0	0	0	1	3330	813	29	1		1	CHD2	15	93485094	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2002055	93485094	9046298	1022	26996										
LRRK1	79705	genome.wustl.edu	37	chr15	101589932	101589932	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcagaagtgagggacttctCagccatggctttcatcacgg	11	10	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:101589932C>G	ENST00000388948.3	+	23	3742	c.3383C>G	c.(3382-3384)tCa>tGa	p.S1128*	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Nonsense_Mutation_p.S1125*|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGACTTCTCAGCCATGGCT	0.453																																																	0													92	96	95					15																	101589932		1922	4130	6052	SO:0001587	stop_gained	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3383C>G	15.37:g.101589932C>G	ENSP00000373600:p.Ser1128*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S1128*	ENST00000388948.3	37	c.3383	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	45	12.028583	0.99629	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.677	0.95939	0.0:1.0:0.0:0.0	.	.	.	.	X	1128;1125	.	ENSP00000284395:S1125X	S	+	2	0	LRRK1	99407455	1.000000	0.71417	0.959000	0.39883	0.515000	0.34225	7.604000	0.82830	2.655000	0.90218	0.462000	0.41574	TCA	LRRK1	-	NULL		0.453	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101589932	1	no_errors	ENST00000388948	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	101589932	C	G	101589932	4	3	153	1	0	0	0	0	0	1	0	0	9055	838	29	1	3469	1	LRRK1	15	101589932	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8104838	101589932	941460	1023	26997										
PCSK6	5046	genome.wustl.edu	37	chr15	101865104	101865104	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggtcacacaggtgttcatCtcctggtggtgatagaaccc	12	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:101865104C>T	ENST00000348070.1	-	18	2324	c.2325G>A	c.(2323-2325)gaG>gaA	p.E775E	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.E762E	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	776	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTGTTCATCTCCTGGTGGT	0.562																																																	0													56	60	59					15																	101865104		2011	4160	6171	SO:0001819	synonymous_variant	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2325G>A	15.37:g.101865104C>T			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.E775	ENST00000348070.1	37	c.2325		15																																																																																			PCSK6	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom		0.562	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		C	NM_002570		101865104	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	silent	SNP	0.014	T	T	101865104	C	T	101865104	2	4	153	1	0	0	0	0	0	0	0	1	11628	912	32	1		1	PCSK6	15	101865104	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	275172	101865104	666288	1024	26998										
TM2D3	80213	genome.wustl.edu	37	chr15	102191956	102191956	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcccggatcctttattgactGagccagcgcctgcgattgct	11	13	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:102191956G>A	ENST00000333202.3	-	2	117	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000559107.1_Nonsense_Mutation_p.Q38*|TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000428002.2_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	38						integral component of membrane (GO:0016021)		p.Q38*(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATTGACTGAGCCAGCGCC	0.448																																																	1	Substitution - Nonsense(1)	lung(1)											150	156	154					15																	102191956		2203	4300	6503	SO:0001587	stop_gained	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.112C>T	15.37:g.102191956G>A	ENSP00000330433:p.Gln38*		B2RDK9|Q9H046|Q9H651	Nonsense_Mutation	SNP	pfam_TM2	p.Q38*	ENST00000333202.3	37	c.112	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250210	0.59212	.	.	ENSG00000184277	ENST00000333202	.	.	.	4.58	3.66	0.41972	.	0.571542	0.17637	N	0.167178	.	.	.	.	.	.	0.32961	D	0.521027	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-7.1736	9.2398	0.37489	0.1036:0.0:0.8964:0.0	.	.	.	.	X	38	.	ENSP00000330433:Q38X	Q	-	1	0	TM2D3	100009479	0.706000	0.27856	0.065000	0.19835	0.419000	0.31324	1.265000	0.33027	1.248000	0.43934	-0.262000	0.10625	CAG	TM2D3	-	NULL		0.448	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1	G	NM_078474		102191956	-1	no_errors	ENST00000333202	ensembl	human	known	70_37	nonsense	SNP	0.255	A	A	102191956	G	A	102191956	4	1	153	1	0	0	0	0	0	1	0	0	15995	1299	45	1	651	1	TM2D3	15	102191956	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	326852	102191956	339436	1025	26999										
ITFG3	83986	genome.wustl.edu	37	chr16	314676	314676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccctgccgcgcgtgctgctgGagctggccaatgtctctacc	12	16	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:314676G>C	ENST00000399932.3	+	12	1859	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	ITFG3_ENST00000600536.1_Missense_Mutation_p.E470Q|ITFG3_ENST00000450082.2_Missense_Mutation_p.E470Q|ITFG3_ENST00000301678.3_Missense_Mutation_p.E470Q|ITFG3_ENST00000301679.2_Missense_Mutation_p.E470Q|ITFG3_ENST00000442458.2_Missense_Mutation_p.E470Q	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	470						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGTGCTGCTGGAGCTGGCCAA	0.672																																																	0													40	48	46					16																	314676		2137	4242	6379	SO:0001583	missense	83986			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1408G>C	16.37:g.314676G>C	ENSP00000382814:p.Glu470Gln		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E470Q	ENST00000399932.3	37	c.1408	CCDS10402.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.440792|3.440792	0.63067|0.63067	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082|ENST00000424016	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.048802|.	0.85682|.	D|.	0.000000|.	T|T	0.77039|0.77039	0.4072|0.4072	M|M	0.80183|0.80183	2.485|2.485	0.51233|0.51233	D|D	0.999917|0.999917	D;D|.	0.71674|.	0.998;0.998|.	P;P|.	0.62491|.	0.903;0.903|.	T|T	0.78494|0.78494	-0.2182|-0.2182	9|5	0.72032|.	D|.	0.01|.	-10.0002|-10.0002	15.81|15.81	0.78552|0.78552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470;470|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	Q|C	470|109	.|.	ENSP00000301678:E470Q|.	E|W	+|+	1|3	0|0	ITFG3|ITFG3	254677|254677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	3.376000|3.376000	0.52417|0.52417	2.395000|2.395000	0.81488|0.81488	0.555000|0.555000	0.69702|0.69702	GAG|TGG	ITFG3	-	NULL		0.672	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	G	NM_032039		314676	1	no_errors	ENST00000301678	ensembl	human	known	70_37	missense	SNP	1.000	C	C	314676	G	C	314676	3	2	153	1	0	0	0	0	1	0	0	0	7891	1175	41	1	1446	1	ITFG3	16	314676	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		314676	90040077	1026	27000										
TPSAB1	7177	genome.wustl.edu	37	chr16	1292188	1292188	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accggcctggcatctacaccCgtgtcacctactacttggac	8	16	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1292188C>G	ENST00000338844.3	+	6	808	c.775C>G	c.(775-777)Cgt>Ggt	p.R259G	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R266G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	259	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CATCTACACCCGTGTCACCTA	0.647																																																	0													87	80	82					16																	1292188		2199	4296	6495	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.775C>G	16.37:g.1292188C>G	ENSP00000343577:p.Arg259Gly		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R259G	ENST00000338844.3	37	c.775	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072544	0.20147	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.84298	-1.83;-1.83	2.84	-0.747	0.11091	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40302	N	0.001122	D	0.90126	0.6915	M	0.89785	3.06	0.41180	D	0.986229	D;D	0.76494	0.999;0.999	P;D	0.63793	0.866;0.918	D	0.86340	0.1704	10	0.72032	D	0.01	.	4.6875	0.12764	0.373:0.5103:0.0:0.1167	.	250;259	Q15661-2;Q15661	.;TRYB1_HUMAN	G	259;266	ENSP00000343577:R259G;ENSP00000418247:R266G	ENSP00000343577:R259G	R	+	1	0	TPSAB1	1232189	0.000000	0.05858	0.135000	0.22099	0.006000	0.05464	-0.279000	0.08479	-0.214000	0.10078	0.184000	0.17185	CGT	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.647	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	C	NM_003294		1292188	1	no_errors	ENST00000562675	ensembl	human	known	70_37	missense	SNP	0.783	G	G	1292188	C	G	1292188	3	3	153	1	0	0	0	0	1	0	0	0	16454	652	23	2	793	2	TPSAB1	16	1292188	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	977512	1292188	89062565	1027	27001										
BAIAP3	8938	genome.wustl.edu	37	chr16	1388903	1388903	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgacccggctctttctccagGaaacccggggatggcgtgga	14	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1388903G>C	ENST00000324385.5	+	3	395	c.237G>C	c.(235-237)tgG>tgC	p.W79C	BAIAP3_ENST00000397489.1_Splice_Site_p.W44C|BAIAP3_ENST00000397488.2_Splice_Site_p.W44C|BAIAP3_ENST00000426824.3_Splice_Site_p.W44C|BAIAP3_ENST00000568887.1_Splice_Site_p.W44C|BAIAP3_ENST00000421665.2_Splice_Site_p.W44C|BAIAP3_ENST00000562208.1_Splice_Site_p.W44C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	79					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTTTCTCCAGGAAACCCGGGG	0.637																																																	0													79	85	83					16																	1388903		2199	4300	6499	SO:0001630	splice_region_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.237-1G>C	16.37:g.1388903G>C			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.W79C	ENST00000324385.5	37	c.237	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027465	0.35797	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71698	-0.54;-0.55;-0.56;-0.55;-0.59	4.04	4.04	0.47022	.	0.405411	0.22692	N	0.056818	T	0.76321	0.3971	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;D;D	0.71674	0.998;0.998;0.993;0.995;0.998	P;P;P;P;P	0.61132	0.628;0.884;0.628;0.547;0.747	T	0.75628	-0.3252	9	.	.	.	.	11.5512	0.50721	0.0:0.0:1.0:0.0	.	44;79;44;79;44	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	C	44;44;79;44;44	ENSP00000407242:W44C;ENSP00000380625:W44C;ENSP00000324510:W79C;ENSP00000380626:W44C;ENSP00000409533:W44C	.	W	+	3	0	BAIAP3	1328904	1.000000	0.71417	0.950000	0.38849	0.331000	0.28603	3.367000	0.52350	2.073000	0.62155	0.484000	0.47621	TGG	BAIAP3	-	NULL		0.637	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G		Missense_Mutation	1388903	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.996	C	C	1388903	G	C	1388903	5	2	153	1	0	0	0	0	0	0	1	0	1305	1188	41	1	247	1	BAIAP3	16	1388903	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	96715	1388903	88965850	1028	27002										
BAIAP3	8938	genome.wustl.edu	37	chr16	1389502	1389502	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcccccacctgcaggtggaGatgctctacgaggaggccct	12	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1389502G>C	ENST00000324385.5	+	5	569	c.411G>C	c.(409-411)gaG>gaC	p.E137D	BAIAP3_ENST00000397489.1_Missense_Mutation_p.E119D|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E119D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E102D|BAIAP3_ENST00000568887.1_Intron|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E102D|BAIAP3_ENST00000562208.1_Intron	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	137					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCAGGTGGAGATGCTCTACG	0.687																																																	0													52	48	49					16																	1389502		2196	4298	6494	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.411G>C	16.37:g.1389502G>C	ENSP00000324510:p.Glu137Asp		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E137D	ENST00000324385.5	37	c.411	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	0.974	-0.699278	0.03279	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.73363	-0.72;-0.64;-0.74;-0.64;-0.67	4.0	-0.685	0.11328	.	0.252045	0.37761	N	0.001954	T	0.57975	0.2090	L	0.38175	1.15	0.33549	D	0.59588	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.50154	-0.8861	10	0.37606	T	0.19	-18.7806	7.2358	0.26070	0.1883:0.2669:0.5448:0.0	.	102;154;137;119	E7EUB9;B4DGA2;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	D	102;119;137;119;102	ENSP00000407242:E102D;ENSP00000380625:E119D;ENSP00000324510:E137D;ENSP00000380626:E119D;ENSP00000409533:E102D	ENSP00000324510:E137D	E	+	3	2	BAIAP3	1329503	0.970000	0.33590	0.995000	0.50966	0.005000	0.04900	0.186000	0.16978	-0.208000	0.10171	-2.716000	0.00133	GAG	BAIAP3	-	NULL		0.687	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1389502	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.898	C	C	1389502	G	C	1389502	3	2	153	1	0	0	0	0	1	0	0	0	1305	933	33	1	429	1	BAIAP3	16	1389502	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	599	1389502	88965251	1029	27003										
TBL3	10607	genome.wustl.edu	37	chr16	2024380	2024380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accactctttctcctaggagGaccaggaggacatcactgcc	9	14	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2024380G>A	ENST00000568546.1	+	4	321	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	65					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CTCCTAGGAGGACCAGGAGGA	0.657																																					Melanoma(118;616 1651 35077 38081 48633)												0													163	160	161					16																	2024380		2199	4300	6499	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.193G>A	16.37:g.2024380G>A	ENSP00000454836:p.Asp65Asn		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D65N	ENST00000568546.1	37	c.193	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003154	0.74932	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.252227	0.44902	D	0.000407	T	0.78065	0.4225	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	T	0.79855	-0.1627	9	0.46703	T	0.11	-34.897	16.9095	0.86137	0.0:0.0:1.0:0.0	.	65	Q12788	TBL3_HUMAN	N	65	.	ENSP00000331815:D65N	D	+	1	0	TBL3	1964381	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.496000	0.81526	2.213000	0.71641	0.561000	0.74099	GAC	TBL3	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.657	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	G	NM_006453		2024380	1	no_errors	ENST00000568546	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2024380	G	A	2024380	3	1	153	1	0	0	0	0	1	0	0	0	15673	1174	41	1	207	1	TBL3	16	2024380	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	634878	2024380	88330373	1030	27004										
TSC2	7249	genome.wustl.edu	37	chr16	2129136	2129136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctccacctggagctcacgGaaacctgtctggacatgatg	10	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2129136G>A	ENST00000219476.3	+	27	3700	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	TSC2_ENST00000382538.6_Missense_Mutation_p.E932K|TSC2_ENST00000568454.1_Missense_Mutation_p.E991K|TSC2_ENST00000439673.2_Missense_Mutation_p.E944K|TSC2_ENST00000353929.4_Missense_Mutation_p.E981K|TSC2_ENST00000350773.4_Missense_Mutation_p.E1024K|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000401874.2_Missense_Mutation_p.E980K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1024					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGAGCTCACGGAAACCTGTCT	0.607			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													125	100	109					16																	2129136		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3070G>A	16.37:g.2129136G>A	ENSP00000219476:p.Glu1024Lys		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.E1024K	ENST00000219476.3	37	c.3070	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.286145	0.95517	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95885	-3.78;-3.82;-3.83;-3.84;-3.7	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.71674	0.995;0.998;0.997;0.998;0.996;0.982	D;D;D;D;D;D	0.87578	0.956;0.998;0.98;0.997;0.938;0.952	D	0.98383	1.0559	10	0.72032	D	0.01	-22.301	18.5973	0.91234	0.0:0.0:1.0:0.0	.	932;944;1024;980;980;1024	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	1024;981;981;944;932;1024	ENSP00000219476:E1024K;ENSP00000248099:E981K;ENSP00000399232:E944K;ENSP00000371978:E932K;ENSP00000344383:E1024K	ENSP00000219476:E1024K	E	+	1	0	TSC2	2069137	1.000000	0.71417	0.323000	0.25347	0.774000	0.43823	9.787000	0.99055	2.389000	0.81357	0.655000	0.94253	GAA	TSC2	-	NULL		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2129136	1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2129136	G	A	2129136	3	1	153	1	0	0	0	0	1	0	0	0	16637	1175	41	1	3172	1	TSC2	16	2129136	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	104756	2129136	88225617	1031	27005										
PKD1	5310	genome.wustl.edu	37	chr16	2158721	2158721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcaggaccacgtccacctcCggctcccggcaggccagcac	12	19	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2158721C>T	ENST00000262304.4	-	15	6655	c.6447G>A	c.(6445-6447)ccG>ccA	p.P2149P	PKD1_ENST00000423118.1_Silent_p.P2149P|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2149	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACCTCCGGCTCCCGGC	0.672																																																	0													18	13	15					16																	2158721		2128	4231	6359	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6447G>A	16.37:g.2158721C>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.P2149	ENST00000262304.4	37	c.6447	CCDS32369.1	16																																																																																			PKD1	-	superfamily_PKD_dom,pfscan_REJ-like,tigrfam_Polycystin_cat		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2158721	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.000	T	T	2158721	C	T	2158721	2	4	153	1	0	0	0	0	0	0	0	1	11987	639	23	2		2	PKD1	16	2158721	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	29585	2158721	88196032	1032	27006										
AMDHD2	51005	genome.wustl.edu	37	chr16	2578542	2578542	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggaagtggaagtggacggtCtgacggcctacgtggcaggt	18	7	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2578542C>G	ENST00000293971.6	+	8	1046	c.952C>G	c.(952-954)Ctg>Gtg	p.L318V	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.L318V|AMDHD2_ENST00000302956.4_Missense_Mutation_p.L318V|AMDHD2_ENST00000565570.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	318					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGTGGACGGTCTGACGGCCTA	0.697																																																	0													49	44	46					16																	2578542		2198	4298	6496	SO:0001583	missense	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.952C>G	16.37:g.2578542C>G	ENSP00000293971:p.Leu318Val		B4DL77|Q8WV54	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.L318V	ENST00000293971.6	37	c.952		16	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015190	0.19355	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;T	0.99932	-8.2;-8.2;0.52	5.51	3.57	0.40892	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	L	0.31926	0.97	0.80722	D	1	P;P;P	0.50443	0.935;0.814;0.935	P;P;P	0.55508	0.775;0.777;0.713	D	0.97073	0.9779	10	0.56958	D	0.05	-11.1389	10.97	0.47434	0.0:0.8471:0.0:0.1529	.	318;318;318	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	V	318	ENSP00000391596:L318V;ENSP00000307481:L318V;ENSP00000293971:L318V	ENSP00000293971:L318V	L	+	1	2	AMDHD2	2518543	0.983000	0.35010	0.764000	0.31436	0.098000	0.18820	2.088000	0.41663	0.697000	0.31718	0.655000	0.94253	CTG	AMDHD2	-	pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite		0.697	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435652.1	C	NM_015944		2578542	1	no_errors	ENST00000413459	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2578542	C	G	2578542	3	3	153	1	0	0	0	0	1	0	0	0	568	912	32	1	982	1	AMDHD2	16	2578542	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	419821	2578542	87776211	1033	27007										
SRRM2	23524	genome.wustl.edu	37	chr16	2812362	2812362	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggtctagaacaccagcccgGaggggcaggtctcggtctag	15	12	3	1	rs372017967		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2812362G>T	ENST00000301740.8	+	11	2382	c.1833G>T	c.(1831-1833)cgG>cgT	p.R611R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	611	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGCCCGGAGGGGCAGGT	0.622																																																	0								G		1,4395	2.1+/-5.4	0,1,2197	58	60	59		1833	-7.2	0.6	16		59	0,8600		0,0,4300	no	coding-synonymous	SRRM2	NM_016333.3		0,1,6497	TT,TG,GG		0.0,0.0227,0.0077		611/2753	2812362	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1833G>T	16.37:g.2812362G>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.R611	ENST00000301740.8	37	c.1833	CCDS32373.1	16																																																																																			SRRM2	-	NULL		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	G			2812362	1	no_errors	ENST00000301740	ensembl	human	known	70_37	silent	SNP	0.013	T	T	2812362	G	T	2812362	2	4	153	1	0	0	0	0	0	0	0	1	15199	1161	41	3		3	SRRM2	16	2812362	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	233820	2812362	87542391	1034	27008										
TRAP1	10131	genome.wustl.edu	37	chr16	3715983	3715983	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcctataccttgacctcctGctcggtggcggtcacaatgc	9	15	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3715983G>A	ENST00000246957.5	-	12	1460	c.1372C>T	c.(1372-1374)Cag>Tag	p.Q458*	TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q405*|TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000575671.1_Nonsense_Mutation_p.Q249*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	458					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TTGACCTCCTGCTCGGTGGCG	0.527																																																	0													90	85	86					16																	3715983		2197	4300	6497	SO:0001587	stop_gained	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1372C>T	16.37:g.3715983G>A	ENSP00000246957:p.Gln458*		B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Nonsense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.Q458*	ENST00000246957.5	37	c.1372	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.770344	0.98948	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.78	5.78	0.91487	.	0.121727	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-39.4235	18.9999	0.92829	0.0:0.0:1.0:0.0	.	.	.	.	X	458;405	.	ENSP00000246957:Q458X	Q	-	1	0	TRAP1	3655984	1.000000	0.71417	0.980000	0.43619	0.333000	0.28666	9.180000	0.94867	2.744000	0.94065	0.563000	0.77884	CAG	TRAP1	-	pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90		0.527	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	G	NM_016292		3715983	-1	no_errors	ENST00000246957	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3715983	G	A	3715983	4	1	153	1	0	0	0	0	0	1	0	0	16486	1328	46	4	770	4	TRAP1	16	3715983	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	903621	3715983	86638770	1035	27009										
CREBBP	1387	genome.wustl.edu	37	chr16	3900710	3900710	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtttaggcaggctgggggctGaagaatctccctggctcaga	15	9	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3900710G>A	ENST00000262367.5	-	2	1195	c.386C>T	c.(385-387)tCa>tTa	p.S129L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S129L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	129					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGGGGCTGAAGAATCTCC	0.647			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													42	43	43					16																	3900710		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.386C>T	16.37:g.3900710G>A	ENSP00000262367:p.Ser129Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S129L	ENST00000262367.5	37	c.386	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270660	0.59540	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82711	-1.64;-1.6	5.73	4.77	0.60923	.	0.496860	0.20213	N	0.096860	D	0.83403	0.5247	L	0.29908	0.895	0.46954	D	0.999268	D;P	0.53745	0.962;0.826	P;B	0.56088	0.791;0.262	D	0.83803	0.0237	10	0.48119	T	0.1	-4.7213	15.3598	0.74464	0.0:0.0:0.8599:0.1401	.	197;129	Q4LE28;Q92793	.;CBP_HUMAN	L	129;197;129	ENSP00000262367:S129L;ENSP00000371502:S129L	ENSP00000262367:S129L	S	-	2	0	CREBBP	3840711	1.000000	0.71417	0.902000	0.35471	0.982000	0.71751	5.844000	0.69430	1.393000	0.46605	0.555000	0.69702	TCA	CREBBP	-	NULL		0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900710	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	0.997	A	A	3900710	G	A	3900710	3	1	153	1	0	0	0	0	1	0	0	0	3866	1294	45	1	7062	1	CREBBP	16	3900710	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	184727	3900710	86454043	1036	27010										
CREBBP	1387	genome.wustl.edu	37	chr16	3901001	3901001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cattttccaagtcaaacaatGatccaaaatctagaaattaa	3	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3901001G>A	ENST00000262367.5	-	2	904	c.95C>T	c.(94-96)tCa>tTa	p.S32L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S32L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	32					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCAAACAATGATCCAAAATC	0.403			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													55	54	55					16																	3901001		2195	4291	6486	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.95C>T	16.37:g.3901001G>A	ENSP00000262367:p.Ser32Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S32L	ENST00000262367.5	37	c.95	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054063	0.75960	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.86562	-2.14;-2.12	5.92	5.92	0.95590	.	0.086452	0.49916	D	0.000127	D	0.92172	0.7518	M	0.72894	2.215	0.80722	D	1	P;D	0.58620	0.949;0.983	P;P	0.57101	0.719;0.813	D	0.92259	0.5815	10	0.87932	D	0	-4.3311	20.3206	0.98668	0.0:0.0:1.0:0.0	.	100;32	Q4LE28;Q92793	.;CBP_HUMAN	L	32;100;32	ENSP00000262367:S32L;ENSP00000371502:S32L	ENSP00000262367:S32L	S	-	2	0	CREBBP	3841002	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.390000	0.79816	2.809000	0.96659	0.655000	0.94253	TCA	CREBBP	-	NULL		0.403	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3901001	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3901001	G	A	3901001	3	1	153	1	0	0	0	0	1	0	0	0	3866	1294	45	1	7353	1	CREBBP	16	3901001	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	291	3901001	86453752	1037	27011										
ATF7IP2	80063	genome.wustl.edu	37	chr16	10551364	10551364	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaattaatttgtcatcagatCaaaataagtctgtttctgaa	5	5	5	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:10551364C>T	ENST00000396560.2	+	7	1557	c.1330C>T	c.(1330-1332)Caa>Taa	p.Q444*	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.Q444*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.Q444*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.Q444*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GTCATCAGATCAAAATAAGTC	0.294																																																	0													81	92	89					16																	10551364		2196	4298	6494	SO:0001587	stop_gained	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1330C>T	16.37:g.10551364C>T	ENSP00000379808:p.Gln444*		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3	p.Q444*	ENST00000396560.2	37	c.1330	CCDS10540.1	16	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949362	0.53186	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000356427;ENST00000324570	.	.	.	4.15	-0.503	0.12000	.	2.313430	0.01403	N	0.013681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.185	6.4158	0.21715	0.0:0.4207:0.0:0.5793	.	.	.	.	X	444	.	ENSP00000322811:Q444X	Q	+	1	0	ATF7IP2	10458865	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.263000	0.08670	0.049000	0.15920	-0.225000	0.12378	CAA	ATF7IP2	-	NULL		0.294	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	C	NM_024997		10551364	1	no_errors	ENST00000356427	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	10551364	C	T	10551364	4	4	153	1	0	0	0	0	0	1	0	0	1089	827	29	1	1348	1	ATF7IP2	16	10551364	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	6650363	10551364	79803389	1038	27012										
ZC3H7A	29066	genome.wustl.edu	37	chr16	11858943	11858943	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcatgctttgtaaccgggtGagaacaagcagtagaattat	10	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:11858943G>A	ENST00000396516.2	-	14	1983	c.1786C>T	c.(1786-1788)Cac>Tac	p.H596Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H596Y			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	596						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GTAACCGGGTGAGAACAAGCA	0.279																																																	0													88	89	89					16																	11858943		2197	4296	6493	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1786C>T	16.37:g.11858943G>A	ENSP00000379773:p.His596Tyr		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.H596Y	ENST00000396516.2	37	c.1786	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888611	0.91814	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10192	2.9;2.9	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.942	T	0.04320	-1.0960	10	0.87932	D	0	.	18.5622	0.91104	0.0:0.0:1.0:0.0	.	317;596	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	Y	596	ENSP00000347999:H596Y;ENSP00000379773:H596Y	ENSP00000347999:H596Y	H	-	1	0	ZC3H7A	11766444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.694000	0.98686	2.689000	0.91719	0.591000	0.81541	CAC	ZC3H7A	-	NULL		0.279	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	G	NM_014153		11858943	-1	no_errors	ENST00000355758	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11858943	G	A	11858943	3	1	153	1	0	0	0	0	1	0	0	0	17602	1290	45	1	1165	1	ZC3H7A	16	11858943	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1307579	11858943	78495810	1039	27013										
ABCC6	368	genome.wustl.edu	37	chr16	16244559	16244559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtccacggcagcagtagcctCgtccaggatgaggatctggg	15	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:16244559C>T	ENST00000205557.7	-	30	4308	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1427	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GCAGTAGCCTCGTCCAGGATG	0.617																																																	0													45	38	41					16																	16244559		2197	4300	6497	SO:0001583	missense	368			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.4279G>A	16.37:g.16244559C>T	ENSP00000205557:p.Glu1427Lys		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E1427K	ENST00000205557.7	37	c.4279	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673463	0.88445	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.98150	-4.75	4.36	4.36	0.52297	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.43579	U	0.000542	D	0.99399	0.9788	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97922	1.0315	10	0.87932	D	0	.	16.881	0.86063	0.0:1.0:0.0:0.0	.	1427;1427	O95255;A8Y988	MRP6_HUMAN;.	K	1427;365	ENSP00000205557:E1427K	ENSP00000205557:E1427K	E	-	1	0	ABCC6	16152060	1.000000	0.71417	0.998000	0.56505	0.531000	0.34715	7.640000	0.83355	2.154000	0.67381	0.549000	0.68633	GAG	ABCC6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.617	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	C			16244559	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16244559	C	T	16244559	3	4	153	1	0	0	0	0	1	0	0	0	57	893	31	1	240	1	ABCC6	16	16244559	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4385616	16244559	74110194	1040	27014										
ERI2	112479	genome.wustl.edu	37	chr16	20811296	20811296	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaccagaatgttctcgtcctGagaattctattcctacttcc	5	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:20811296G>A	ENST00000357967.4	-	7	668	c.626C>T	c.(625-627)tCa>tTa	p.S209L	ERI2_ENST00000569729.1_Missense_Mutation_p.S209L|ERI2_ENST00000564349.1_Missense_Mutation_p.S116L|ERI2_ENST00000300005.3_Missense_Mutation_p.S209L|ERI2_ENST00000563117.1_Missense_Mutation_p.S116L|ERI2_ENST00000389345.5_5'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	209	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTCTCGTCCTGAGAATTCTAT	0.284																																																	0													50	55	53					16																	20811296		2201	4295	6496	SO:0001583	missense	112479			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.626C>T	16.37:g.20811296G>A	ENSP00000350651:p.Ser209Leu		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S209L	ENST00000357967.4	37	c.626	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852754	0.32699	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T;T	0.22336	1.96;1.96	5.79	4.81	0.61882	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.439260	0.24678	N	0.036483	T	0.11836	0.0288	N	0.19112	0.55	0.80722	D	1	B;B;B	0.13145	0.007;0.001;0.002	B;B;B	0.12156	0.007;0.001;0.003	T	0.13602	-1.0503	10	0.34782	T	0.22	-0.8072	4.6282	0.12488	0.2134:0.0:0.6118:0.1748	.	209;209;209	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	L	209	ENSP00000300005:S209L;ENSP00000350651:S209L	ENSP00000300005:S209L	S	-	2	0	ERI2	20718797	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.012000	0.40932	1.294000	0.44707	0.650000	0.86243	TCA	ERI2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.284	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		G	NM_080663		20811296	-1	no_errors	ENST00000357967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20811296	G	A	20811296	3	1	153	1	0	0	0	0	1	0	0	0	5240	1294	45	1	1728	1	ERI2	16	20811296	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4566737	20811296	69543457	1041	27015										
OTOA	146183	genome.wustl.edu	37	chr16	21690505	21690505	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcattttactcccattgtagCactgctggatctcatacagt	6	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:21690505C>G	ENST00000286149.4	+	4	153	c.152C>G	c.(151-153)gCa>gGa	p.A51G	OTOA_ENST00000388958.3_Splice_Site_p.A51G			Q7RTW8	OTOAN_HUMAN	otoancorin	51					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCCATTGTAGCACTGCTGGAT	0.358																																																	0													112	114	113					16																	21690505		2199	4300	6499	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.152-1C>G	16.37:g.21690505C>G			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.A51G	ENST00000286149.4	37	c.152		16	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771702	0.49680	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.70045	-0.45;-0.44	6.02	6.02	0.97574	.	0.172011	0.40469	N	0.001094	T	0.58764	0.2145	L	0.43923	1.385	0.80722	D	1	B	0.32693	0.38	B	0.30316	0.114	T	0.54866	-0.8229	9	.	.	.	.	16.0472	0.80727	0.0:1.0:0.0:0.0	.	51	E9PF51	.	G	51	ENSP00000373610:A51G;ENSP00000286149:A51G	.	A	+	2	0	OTOA	21598006	0.997000	0.39634	0.971000	0.41717	0.995000	0.86356	4.613000	0.61176	2.850000	0.98022	0.650000	0.86243	GCA	OTOA	-	NULL		0.358	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	C		Missense_Mutation	21690505	1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	0.988	G	G	21690505	C	G	21690505	5	3	153	1	0	0	0	0	0	0	1	0	11326	724	25	4	166	4	OTOA	16	21690505	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	879209	21690505	68664248	1042	27016										
PALB2	79728	genome.wustl.edu	37	chr16	23641068	23641068	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgttcctggcgggacagagtCacagtcacaggtaggttgtc	14	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:23641068C>T	ENST00000261584.4	-	5	2559	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	803	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGACAGAGTCACAGTCACAG	0.488			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													144	113	123					16																	23641068		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2407G>A	16.37:g.23641068C>T	ENSP00000261584:p.Asp803Asn		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.D803N	ENST00000261584.4	37	c.2407	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386193	0.25031	.	.	ENSG00000083093	ENST00000261584	T	0.18657	2.2	5.63	4.67	0.58626	.	0.389316	0.27371	N	0.019666	T	0.30572	0.0769	M	0.67953	2.075	0.09310	N	1	D	0.55800	0.973	P	0.50659	0.647	T	0.16928	-1.0386	10	0.17832	T	0.49	-2.7919	12.7456	0.57280	0.0:0.8358:0.1642:0.0	.	803	Q86YC2	PALB2_HUMAN	N	803	ENSP00000261584:D803N	ENSP00000261584:D803N	D	-	1	0	PALB2	23548569	0.032000	0.19561	0.007000	0.13788	0.097000	0.18754	2.108000	0.41854	1.351000	0.45789	0.655000	0.94253	GAC	PALB2	-	NULL		0.488	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	C	NM_024675		23641068	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	missense	SNP	0.042	T	T	23641068	C	T	23641068	3	4	153	1	0	0	0	0	1	0	0	0	11430	826	29	1	1189	1	PALB2	16	23641068	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1950563	23641068	66713685	1043	27017										
KIAA0556	23247	genome.wustl.edu	37	chr16	27710918	27710918	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggagaaggaagagacccttGaggtcagtgctaggcagaga	16	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:27710918G>A	ENST00000261588.4	+	10	1196	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	393						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGACCCTTGAGGTCAGTGC	0.522																																																	0													130	100	110					16																	27710918		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1177G>A	16.37:g.27710918G>A	ENSP00000261588:p.Glu393Lys		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E393K	ENST00000261588.4	37	c.1177	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	7.375	0.627679	0.14257	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.09630	2.96	4.32	4.32	0.51571	.	0.975314	0.08413	N	0.949510	T	0.14270	0.0345	M	0.62723	1.935	0.34785	D	0.735127	P;B	0.45283	0.855;0.058	B;B	0.37480	0.251;0.04	T	0.28106	-1.0054	10	0.39692	T	0.17	-3.4289	13.0443	0.58918	0.0:0.0:1.0:0.0	.	301;393	Q8N803;O60303	.;K0556_HUMAN	K	393;300	ENSP00000261588:E393K	ENSP00000261588:E393K	E	+	1	0	KIAA0556	27618419	0.991000	0.36638	0.936000	0.37596	0.295000	0.27426	2.562000	0.45914	2.344000	0.79699	0.561000	0.74099	GAG	KIAA0556	-	NULL		0.522	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27710918	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.965	A	A	27710918	G	A	27710918	3	1	153	1	0	0	0	0	1	0	0	0	8203	1291	45	1	1215	1	KIAA0556	16	27710918	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4069850	27710918	62643835	1044	27018										
KIAA0556	23247	genome.wustl.edu	37	chr16	27751738	27751738	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgtcggcagtccccacttCgatgggtgacatgcccagtg	12	13	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:27751738C>G	ENST00000261588.4	+	15	2139	c.2120C>G	c.(2119-2121)tCg>tGg	p.S707W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	707						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCCCACTTCGATGGGTGAC	0.498																																																	0													53	54	54					16																	27751738		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2120C>G	16.37:g.27751738C>G	ENSP00000261588:p.Ser707Trp		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.S707W	ENST00000261588.4	37	c.2120	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722166	0.30503	.	.	ENSG00000047578	ENST00000261588	T	0.11385	2.78	5.25	0.579	0.17397	.	1.581280	0.03012	N	0.149564	T	0.20740	0.0499	L	0.56769	1.78	0.09310	N	1	D	0.64830	0.994	P	0.54889	0.763	T	0.06499	-1.0823	10	0.59425	D	0.04	-5.198	3.156	0.06504	0.104:0.4728:0.2044:0.2189	.	707	O60303	K0556_HUMAN	W	707	ENSP00000261588:S707W	ENSP00000261588:S707W	S	+	2	0	KIAA0556	27659239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.314000	0.08092	-0.358000	0.08162	-2.069000	0.00389	TCG	KIAA0556	-	NULL		0.498	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27751738	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.000	G	G	27751738	C	G	27751738	3	3	153	1	0	0	0	0	1	0	0	0	8203	893	31	1	2178	1	KIAA0556	16	27751738	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	40820	27751738	62603015	1045	27019										
APOB48R	55911	genome.wustl.edu	37	chr16	28507050	28507050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agatggagcagggggtcaggGaggcagatgcaggggaaact	20	5	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:28507050G>A	ENST00000431282.1	+	2	698	c.688G>A	c.(688-690)Gag>Aag	p.E230K	APOBR_ENST00000328423.5_Missense_Mutation_p.E230K|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.E230K|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	230	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGGGTCAGGGAGGCAGATGC	0.637																																																	0													16	19	18					16																	28507050		2120	4231	6351	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.688G>A	16.37:g.28507050G>A	ENSP00000416094:p.Glu230Lys		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E230K	ENST00000431282.1	37	c.688		16	.	.	.	.	.	.	.	.	.	.	G	8.368	0.834618	0.16820	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58358	0.34;0.34	5.14	3.13	0.36017	.	.	.	.	.	T	0.34424	0.0897	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.20538	-1.0272	9	0.33141	T	0.24	-1.0138	8.3384	0.32228	0.161:0.13:0.709:0.0	.	230	Q9NS13	.	K	230	ENSP00000327669:E230K;ENSP00000416094:E230K	ENSP00000327669:E230K	E	+	1	0	APOBR	28414551	0.015000	0.18098	0.002000	0.10522	0.022000	0.10575	0.841000	0.27613	0.564000	0.29238	-1.144000	0.01866	GAG	APOBR	-	NULL		0.637	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28507050	1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.002	A	A	28507050	G	A	28507050	3	1	153	1	0	0	0	0	1	0	0	0	786	1175	41	1	694	1	APOB48R	16	28507050	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	755312	28507050	61847703	1046	27020										
ATXN2L	11273	genome.wustl.edu	37	chr16	28847446	28847446	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acatcggacacccccaaggtGagcagcctggccaggcgcct	12	16	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:28847446G>A	ENST00000336783.4	+	22	3255	c.3088G>A	c.(3088-3090)Gag>Aag	p.E1030K	ATXN2L_ENST00000395547.2_Missense_Mutation_p.E1030K|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000564304.1_Missense_Mutation_p.E1036K|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E1030K|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E1030K	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1030					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCCCAAGGTGAGCAGCCTGG	0.632																																																	0													46	54	51					16																	28847446		2194	4300	6494	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3088G>A	16.37:g.28847446G>A	ENSP00000338718:p.Glu1030Lys		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E1030K	ENST00000336783.4	37	c.3088	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	16.71	3.199623	0.58126	.	.	ENSG00000168488	ENST00000395547;ENST00000336783;ENST00000325215	T;T;T	0.42513	0.97;0.97;0.98	5.95	5.0	0.66597	.	0.128776	0.35291	N	0.003302	T	0.21387	0.0515	N	0.08118	0	0.31435	N	0.672644	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.17592	-1.0364	9	.	.	.	-1.5018	10.0773	0.42368	0.154:0.0:0.846:0.0	.	1030;1030;1030;1030	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-3	.;ATX2L_HUMAN;.;.	K	1030	ENSP00000378917:E1030K;ENSP00000338718:E1030K;ENSP00000315650:E1030K	.	E	+	1	0	ATXN2L	28754947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.927000	0.48900	1.523000	0.49018	0.563000	0.77884	GAG	ATXN2L	-	NULL		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245		28847446	1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28847446	G	A	28847446	3	1	153	1	0	0	0	0	1	0	0	0	1213	1291	45	1	3174	1	ATXN2L	16	28847446	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	340396	28847446	61507307	1047	27021										
SPNS1	83985	genome.wustl.edu	37	chr16	28993737	28993737	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtgtgggcctgggtgtggaGatcagccgccggctccgcca	18	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:28993737G>C	ENST00000311008.11	+	8	1403	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	SPNS1_ENST00000565975.1_Missense_Mutation_p.E387D|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000334536.8_Missense_Mutation_p.E290D|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.E268D|SPNS1_ENST00000323081.8_Missense_Mutation_p.E269D	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	342					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGGTGTGGAGATCAGCCGCC	0.647																																																	0													72	72	72					16																	28993737		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1026G>C	16.37:g.28993737G>C	ENSP00000309945:p.Glu342Asp		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E342D	ENST00000311008.11	37	c.1026	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493473	0.64186	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.32	3.35	0.38373	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061259	0.64402	D	0.000004	T	0.66839	0.2830	M	0.72118	2.19	0.44345	D	0.997236	B;B;P;P	0.42993	0.185;0.393;0.797;0.591	B;B;P;P	0.54889	0.138;0.312;0.763;0.467	T	0.64774	-0.6328	10	0.36615	T	0.2	.	10.3209	0.43764	0.0987:0.0:0.9013:0.0	.	269;268;342;290	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	D	342;290;268;269	ENSP00000309945:E342D;ENSP00000335494:E290D;ENSP00000306050:E268D;ENSP00000318228:E269D	ENSP00000309945:E342D	E	+	3	2	SPNS1	28901238	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.822000	0.39052	1.012000	0.39366	0.462000	0.41574	GAG	SPNS1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.647	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	G	NM_032038		28993737	1	no_errors	ENST00000311008	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28993737	G	C	28993737	3	2	153	1	0	0	0	0	1	0	0	0	15104	933	33	1	1056	1	SPNS1	16	28993737	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	146291	28993737	61361016	1048	27022										
PRRT2	112476	genome.wustl.edu	37	chr16	29825094	29825094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggcatccaggatctccccGaggtagcctgagccgccacc	12	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:29825094G>A	ENST00000358758.7	+	2	1002	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	PRRT2_ENST00000567659.1_Missense_Mutation_p.R240Q|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.R240Q|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	240					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GGATCTCCCCGAGGTAGCCTG	0.642																																																	0													29	30	30					16																	29825094		2197	4300	6497	SO:0001583	missense	112476			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.719G>A	16.37:g.29825094G>A	ENSP00000351608:p.Arg240Gln		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.R240Q	ENST00000358758.7	37	c.719	CCDS10654.1	16	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244874	0.59103	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70869	-0.52;0.2	3.9	3.9	0.45041	.	0.330305	0.28901	N	0.013777	T	0.72867	0.3514	N	0.24115	0.695	0.31379	N	0.679214	D;P;P	0.89917	1.0;0.901;0.94	D;B;P	0.78314	0.991;0.277;0.468	T	0.73681	-0.3906	10	0.41790	T	0.15	-5.5191	13.7948	0.63164	0.0:0.0:1.0:0.0	.	240;240;240	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Q	240	ENSP00000351608:R240Q;ENSP00000300797:R240Q	ENSP00000300797:R240Q	R	+	2	0	PRRT2	29732595	0.987000	0.35691	1.000000	0.80357	0.989000	0.77384	0.678000	0.25277	2.190000	0.69967	0.563000	0.77884	CGA	PRRT2	-	NULL		0.642	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	G	NM_145239		29825094	1	no_errors	ENST00000567659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29825094	G	A	29825094	3	1	153	1	0	0	0	0	1	0	0	0	12637	1058	37	1	721	1	PRRT2	16	29825094	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	831357	29825094	60529659	1049	27023										
TAOK2	9344	genome.wustl.edu	37	chr16	29990151	29990151	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtattgcctgggctcagcttCtgaccttctagaaggtaagt	11	9	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:29990151C>G	ENST00000308893.4	+	5	1381	c.338C>G	c.(337-339)tCt>tGt	p.S113C	TAOK2_ENST00000543033.1_Missense_Mutation_p.S113C|TAOK2_ENST00000279394.3_Missense_Mutation_p.S113C|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTCAGCTTCTGACCTTCTA	0.507																																																	0													87	81	83					16																	29990151		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.338C>G	16.37:g.29990151C>G	ENSP00000310094:p.Ser113Cys		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.S113C	ENST00000308893.4	37	c.338	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948096	0.73787	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.66460	-0.21;-0.21;-0.21	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;0.997;1.0	D;D;D;D	0.77557	0.985;0.927;0.956;0.99	T	0.77523	-0.2556	9	.	.	.	.	18.3838	0.90459	0.0:1.0:0.0:0.0	.	297;113;113;113	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	C	113	ENSP00000310094:S113C;ENSP00000440336:S113C;ENSP00000279394:S113C	.	S	+	2	0	TAOK2	29897652	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.818000	0.86416	2.638000	0.89438	0.313000	0.20887	TCT	TAOK2	-	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		0.507	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	C	NM_016151		29990151	1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29990151	C	G	29990151	3	3	153	1	0	0	0	0	1	0	0	0	15578	913	32	1	352	1	TAOK2	16	29990151	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	165057	29990151	60364602	1050	27024										
ALDOA	226	genome.wustl.edu	37	chr16	30080184	30080184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcccagtacaagaaggacgGagctgacttcgccaagtggc	13	11	0	2	rs11553108		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30080184G>T	ENST00000566897.1	+	8	1577	c.425G>T	c.(424-426)gGa>gTa	p.G142V	ALDOA_ENST00000563060.2_Missense_Mutation_p.G142V|ALDOA_ENST00000395240.3_Missense_Mutation_p.G142V|ALDOA_ENST00000569798.1_Missense_Mutation_p.G142V|ALDOA_ENST00000569545.1_Missense_Mutation_p.G142V|ALDOA_ENST00000412304.2_Missense_Mutation_p.G142V|ALDOA_ENST00000564595.2_Missense_Mutation_p.G196V|ALDOA_ENST00000338110.5_Missense_Mutation_p.G142V|ALDOA_ENST00000395248.1_Missense_Mutation_p.G196V|ALDOA_ENST00000564546.1_Missense_Mutation_p.G142V			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	142			G -> V (in dbSNP:rs11553108).		actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						AAGAAGGACGGAGCTGACTTC	0.577											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105	99	101					16																	30080184		2197	4300	6497	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.425G>T	16.37:g.30080184G>T	ENSP00000455724:p.Gly142Val	814	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.G142V	ENST00000566897.1	37	c.425	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704758	0.88924	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	5.67	5.67	0.87782	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99023	1.0818	10	0.87932	D	0	.	18.5563	0.91086	0.0:0.0:1.0:0.0	rs11553108;rs11553108	1;24;142	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	V	196;142;142;142	ENSP00000378669:G196V;ENSP00000336927:G142V;ENSP00000400452:G142V;ENSP00000378661:G142V	ENSP00000336927:G142V	G	+	2	0	ALDOA	29987685	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.807000	0.99171	2.673000	0.90976	0.655000	0.94253	GGA	ALDOA	-	pfam_Aldolase_I		0.577	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	G	NM_000034		30080184	1	no_errors	ENST00000338110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30080184	G	T	30080184	3	4	153	1	0	0	0	0	1	0	0	0	507	1174	41	3	439	3	ALDOA	16	30080184	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	90033	30080184	60274569	1051	27025										
TBC1D10B	26000	genome.wustl.edu	37	chr16	30381122	30381122	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcttcggcgagtctgcccctGcggccagagccctcgatgtc	12	16	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30381122G>C	ENST00000409939.3	-	1	463	c.383C>G	c.(382-384)gCa>gGa	p.A128G		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	128	Pro-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GTCTGCCCCTGCGGCCAGAGC	0.711																																																	0													9	14	13					16																	30381122		687	1579	2266	SO:0001583	missense	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.383C>G	16.37:g.30381122G>C	ENSP00000386538:p.Ala128Gly		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A128G	ENST00000409939.3	37	c.383	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	G	6.980	0.550869	0.13374	.	.	ENSG00000169221	ENST00000409939	T	0.04970	3.52	3.92	1.88	0.25563	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.44742	-0.9308	9	0.34782	T	0.22	.	6.6753	0.23090	0.2412:0.0:0.7588:0.0	.	128	Q4KMP7	TB10B_HUMAN	G	128	ENSP00000386538:A128G	ENSP00000386538:A128G	A	-	2	0	TBC1D10B	30288623	0.000000	0.05858	0.083000	0.20561	0.768000	0.43524	0.497000	0.22514	0.296000	0.22592	0.491000	0.48974	GCA	TBC1D10B	-	NULL		0.711	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	G	NM_015527		30381122	-1	no_errors	ENST00000409939	ensembl	human	known	70_37	missense	SNP	0.003	C	C	30381122	G	C	30381122	3	2	153	1	0	0	0	0	1	0	0	0	15629	1319	46	4	2079	4	TBC1D10B	16	30381122	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	300938	30381122	59973631	1052	27026										
RNF40	9810	genome.wustl.edu	37	chr16	30779554	30779554	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtcagtacccccgacaacaGaaaggagatggctccagtgc	11	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30779554G>C	ENST00000324685.6	+	13	2117	c.1682G>C	c.(1681-1683)aGa>aCa	p.R561T	RNF40_ENST00000402121.3_Missense_Mutation_p.R253T|RNF40_ENST00000563683.1_Missense_Mutation_p.R521T|RNF40_ENST00000357890.5_Missense_Mutation_p.R461T	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	561					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCCGACAACAGAAAGGAGATG	0.612																																																	0													41	45	44					16																	30779554		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1682G>C	16.37:g.30779554G>C	ENSP00000325677:p.Arg561Thr		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R561T	ENST00000324685.6	37	c.1682	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	0.373	-0.932820	0.02359	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.29142	1.58;1.59;1.58	5.23	3.14	0.36123	.	0.376502	0.28257	N	0.016013	T	0.11580	0.0282	N	0.03608	-0.345	0.19300	N	0.999977	B;B;B;B	0.13145	0.002;0.007;0.004;0.004	B;B;B;B	0.15484	0.004;0.013;0.006;0.006	T	0.25676	-1.0125	10	0.17369	T	0.5	-15.8012	7.399	0.26952	0.271:0.0:0.729:0.0	.	253;461;561;561	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	T	561;461;253	ENSP00000325677:R561T;ENSP00000350563:R461T;ENSP00000384942:R253T	ENSP00000325677:R561T	R	+	2	0	RNF40	30687055	0.357000	0.24938	0.952000	0.39060	0.123000	0.20343	1.542000	0.36137	1.418000	0.47098	0.655000	0.94253	AGA	RNF40	-	NULL		0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30779554	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	0.534	C	C	30779554	G	C	30779554	3	2	153	1	0	0	0	0	1	0	0	0	13523	942	33	1	1728	1	RNF40	16	30779554	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	398432	30779554	59575199	1053	27027										
HSD3B7	80270	genome.wustl.edu	37	chr16	30998216	30998216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcgtcccacgggcatctacgGtgaaggccaccagatcatga	11	13	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30998216G>A	ENST00000297679.5	+	6	680	c.587G>A	c.(586-588)gGt>gAt	p.G196D	HSD3B7_ENST00000353250.5_Intron|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	196					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.G196V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCATCTACGGTGAAGGCCAC	0.672																																																	1	Substitution - Missense(1)	lung(1)											62	60	60					16																	30998216		2197	4300	6497	SO:0001583	missense	80270			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.587G>A	16.37:g.30998216G>A	ENSP00000297679:p.Gly196Asp		Q96M28|Q9BSN9	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA	p.G196D	ENST00000297679.5	37	c.587	CCDS10698.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.709883	0.96821	.	.	ENSG00000099377	ENST00000297679	D	0.96685	-4.09	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	-12.0105	18.4976	0.90870	0.0:0.0:1.0:0.0	.	196	Q9H2F3	3BHS7_HUMAN	D	196	ENSP00000297679:G196D	ENSP00000297679:G196D	G	+	2	0	HSD3B7	30905717	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.025000	0.76449	2.667000	0.90743	0.561000	0.74099	GGT	HSD3B7	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd		0.672	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	G			30998216	1	no_errors	ENST00000297679	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30998216	G	A	30998216	3	1	153	1	0	0	0	0	1	0	0	0	7412	1261	44	4	605	4	HSD3B7	16	30998216	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	218662	30998216	59356537	1054	27028										
ZNF646	9726	genome.wustl.edu	37	chr16	31090081	31090081	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccactctgccaatgctgtCactggctggcaggctggggc	13	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31090081C>T	ENST00000394979.2	+	1	2859	c.2436C>T	c.(2434-2436)gtC>gtT	p.V812V	ZNF646_ENST00000300850.5_Silent_p.V812V			O15015	ZN646_HUMAN	zinc finger protein 646	812					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAATGCTGTCACTGGCTGGC	0.622																																																	0													74	75	74					16																	31090081		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2436C>T	16.37:g.31090081C>T			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V812	ENST00000394979.2	37	c.2436		16																																																																																			ZNF646	-	NULL		0.622	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31090081	1	no_errors	ENST00000300850	ensembl	human	known	70_37	silent	SNP	0.001	T	T	31090081	C	T	31090081	2	4	153	1	0	0	0	0	0	0	0	1	18092	813	29	1		1	ZNF646	16	31090081	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	91865	31090081	59264672	1055	27029										
ZNF646	9726	genome.wustl.edu	37	chr16	31090135	31090135	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgactgtgggcattctttCccccatgccactggcctgct	9	15	2	1	rs538470328		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31090135C>T	ENST00000394979.2	+	1	2913	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	ZNF646_ENST00000300850.5_Silent_p.F830F			O15015	ZN646_HUMAN	zinc finger protein 646	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCATTCTTTCCCCCATGCCA	0.627													C|||	1	0.000199681	0	0	5008	,	,		19202	0		0	False		,,,				2504	0.001																0													85	89	88					16																	31090135		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2490C>T	16.37:g.31090135C>T			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F830	ENST00000394979.2	37	c.2490		16																																																																																			ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31090135	1	no_errors	ENST00000300850	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31090135	C	T	31090135	2	4	153	1	0	0	0	0	0	0	0	1	18092	854	30	1		1	ZNF646	16	31090135	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	54	31090135	59264618	1056	27030										
ZNF646	9726	genome.wustl.edu	37	chr16	31090883	31090883	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccaccagactggagactttCtctgccctgtctgctcccgc	8	17	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31090883C>G	ENST00000394979.2	+	1	3661	c.3238C>G	c.(3238-3240)Ctc>Gtc	p.L1080V	ZNF646_ENST00000300850.5_Missense_Mutation_p.L1080V			O15015	ZN646_HUMAN	zinc finger protein 646	1080					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGAGACTTTCTCTGCCCTGT	0.637																																																	0													142	147	145					16																	31090883		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3238C>G	16.37:g.31090883C>G	ENSP00000378429:p.Leu1080Val		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1080V	ENST00000394979.2	37	c.3238		16	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.271266	0.01421	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.27557	1.66;1.66	5.75	-4.87	0.03123	.	.	.	.	.	T	0.12008	0.0292	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	9	0.30078	T	0.28	0.107	8.8243	0.35045	0.2568:0.355:0.3882:0.0	.	1080	O15015-2	.	V	1080	ENSP00000300850:L1080V;ENSP00000378429:L1080V	ENSP00000300850:L1080V	L	+	1	0	ZNF646	30998384	0.000000	0.05858	0.028000	0.17463	0.841000	0.47740	-0.558000	0.05978	-0.813000	0.04357	-0.457000	0.05445	CTC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31090883	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.000	G	G	31090883	C	G	31090883	3	3	153	1	0	0	0	0	1	0	0	0	18092	913	32	1	3240	1	ZNF646	16	31090883	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	748	31090883	59263870	1057	27031										
ITGAM	3684	genome.wustl.edu	37	chr16	31282320	31282320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgccttcttgattgatggctCtggtagcatcatcccacatg	9	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31282320C>G	ENST00000287497.8	+	6	548	c.473C>G	c.(472-474)tCt>tGt	p.S158C	ITGAM_ENST00000544665.3_Missense_Mutation_p.S158C			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	158	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATTGATGGCTCTGGTAGCATC	0.468																																																	0													224	208	213					16																	31282320		1947	4155	6102	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.473C>G	16.37:g.31282320C>G	ENSP00000287497:p.Ser158Cys		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S158C	ENST00000287497.8	37	c.473	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273008	0.80580	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.98633	-5.04;-5.04	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.99486	0.9817	H	0.96748	3.875	0.47584	D	0.999468	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98304	1.0520	9	0.87932	D	0	.	18.5274	0.90978	0.0:1.0:0.0:0.0	.	158;158	Q4VAK1;P11215	.;ITAM_HUMAN	C	158	ENSP00000441691:S158C;ENSP00000287497:S158C	ENSP00000287497:S158C	S	+	2	0	ITGAM	31189821	0.994000	0.37717	1.000000	0.80357	0.791000	0.44710	4.438000	0.59961	2.758000	0.94735	0.561000	0.74099	TCT	ITGAM	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.468	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	C	NM_000632		31282320	1	no_errors	ENST00000544665	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31282320	C	G	31282320	3	3	153	1	0	0	0	0	1	0	0	0	7907	913	32	1	495	1	ITGAM	16	31282320	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	191437	31282320	59072433	1058	27032										
ITGAX	3687	genome.wustl.edu	37	chr16	31372399	31372399	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacaggttggattagcttttCaaaacagaaattcttggaaa	9	5	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31372399C>G	ENST00000268296.4	+	9	998	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q293E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	293	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATTAGCTTTTCAAAACAGAAA	0.383																																																	0													98	108	104					16																	31372399		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.877C>G	16.37:g.31372399C>G	ENSP00000268296:p.Gln293Glu		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q293E	ENST00000268296.4	37	c.877	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	3.429	-0.116588	0.06838	.	.	ENSG00000140678	ENST00000268296	T	0.77229	-1.08	5.07	-1.86	0.07760	von Willebrand factor, type A (3);	.	.	.	.	T	0.56601	0.1996	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.38222	-0.9671	9	0.09338	T	0.73	.	3.2963	0.06968	0.1301:0.2169:0.4738:0.1792	.	293	P20702	ITAX_HUMAN	E	293	ENSP00000268296:Q293E	ENSP00000268296:Q293E	Q	+	1	0	ITGAX	31279900	0.004000	0.15560	0.072000	0.20136	0.032000	0.12392	-0.485000	0.06520	-0.039000	0.13602	-0.203000	0.12734	CAA	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.383	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31372399	1	no_errors	ENST00000268296	ensembl	human	known	70_37	missense	SNP	0.018	G	G	31372399	C	G	31372399	3	3	153	1	0	0	0	0	1	0	0	0	7909	827	29	1	911	1	ITGAX	16	31372399	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	90079	31372399	58982354	1059	27033										
SLC5A2	6524	genome.wustl.edu	37	chr16	31501802	31501802	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggcccgtgtggtcaacctCaatgccctgctcatgatggc	12	13	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31501802C>G	ENST00000330498.3	+	14	1984	c.1965C>G	c.(1963-1965)ctC>ctG	p.L655L	AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	655					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGGTCAACCTCAATGCCCTGC	0.632																																																	0													68	63	65					16																	31501802		2197	4300	6497	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1965C>G	16.37:g.31501802C>G			A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L655	ENST00000330498.3	37	c.1965	CCDS10714.1	16																																																																																			SLC5A2	-	NULL		0.632	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31501802	1	no_errors	ENST00000330498	ensembl	human	known	70_37	silent	SNP	1.000	G	G	31501802	C	G	31501802	2	3	153	1	0	0	0	0	0	0	0	1	14695	813	29	1		1	SLC5A2	16	31501802	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	129403	31501802	58852951	1060	27034										
NLRC5	84166	genome.wustl.edu	37	chr16	57070017	57070017	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggccccccgtctcagcctctCagggaaccagctggaagatg	12	15	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:57070017C>A	ENST00000262510.6	+	14	2858	c.2633C>A	c.(2632-2634)tCa>tAa	p.S878*	NLRC5_ENST00000436936.1_Nonsense_Mutation_p.S878*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.S878*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.S878*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	878					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCAGCCTCTCAGGGAACCAG	0.572																																																	0													51	48	49					16																	57070017		2198	4300	6498	SO:0001587	stop_gained	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2633C>A	16.37:g.57070017C>A	ENSP00000262510:p.Ser878*		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.S878*	ENST00000262510.6	37	c.2633	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.913590	0.97099	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.	.	.	5.08	5.08	0.68730	.	0.000000	0.29002	N	0.013457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7769	0.78228	0.0:1.0:0.0:0.0	.	.	.	.	X	878;878;878;352;878;385;177	.	ENSP00000262510:S878X	S	+	2	0	NLRC5	55627518	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.995000	0.49441	2.648000	0.89879	0.561000	0.74099	TCA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	C	NM_032206		57070017	1	no_errors	ENST00000262510	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	57070017	C	A	57070017	4	1	153	1	0	0	0	0	0	1	0	0	10494	838	29	3	2679	3	NLRC5	16	57070017	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	25568215	57070017	33284736	1061	27035										
RRAD	6236	genome.wustl.edu	37	chr16	66957536	66957536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgcagttctgaggccttctCgaagctgcccttgtccgtca	10	15	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:66957536C>G	ENST00000299759.6	-	4	782	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	RRAD_ENST00000420652.1_Missense_Mutation_p.E178Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	178					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GAGGCCTTCTCGAAGCTGCCC	0.622																																																	0													124	107	113					16																	66957536		2200	4300	6500	SO:0001583	missense	6236			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.532G>C	16.37:g.66957536C>G	ENSP00000299759:p.Glu178Gln		Q96F39	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E178Q	ENST00000299759.6	37	c.532	CCDS10824.1	16	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914378	0.92178	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.78003	-1.14;-1.14	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82727	-0.0314	10	0.30078	T	0.28	.	18.2596	0.90030	0.0:1.0:0.0:0.0	.	178	P55042	RAD_HUMAN	Q	178	ENSP00000388744:E178Q;ENSP00000299759:E178Q	ENSP00000299759:E178Q	E	-	1	0	RRAD	65515037	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.818000	0.86416	2.375000	0.81037	0.561000	0.74099	GAG	RRAD	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom		0.622	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAD	HGNC	protein_coding	OTTHUMT00000268830.1	C	NM_004165		66957536	-1	no_errors	ENST00000299759	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66957536	C	G	66957536	3	3	153	1	0	0	0	0	1	0	0	0	13701	893	31	1	402	1	RRAD	16	66957536	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9887519	66957536	23397217	1062	27036										
LRRC29	26231	genome.wustl.edu	37	chr16	67242232	67242232	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccttggctaaactggcatCagtcagcttgctgcaggctg	11	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:67242232C>T	ENST00000409037.1	-	2	1164	c.268G>A	c.(268-270)Gat>Aat	p.D90N	LRRC29_ENST00000409509.1_Missense_Mutation_p.D90N|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_Missense_Mutation_p.D90N|LRRC29_ENST00000341546.3_Missense_Mutation_p.D90N			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	90										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAACTGGCATCAGTCAGCTTG	0.627																																																	0													90	100	97					16																	67242232		2198	4300	6498	SO:0001583	missense	26231			AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"F-box and leucine-rich repeat protein 9"	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.268G>A	16.37:g.67242232C>T	ENSP00000387318:p.Asp90Asn		B2RE92|Q9UKA0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp	p.D90N	ENST00000409037.1	37	c.268	CCDS32465.1	16	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771062	0.69992	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000424285	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.39	4.43	0.53597	.	0.170325	0.52532	D	0.000077	T	0.16428	0.0395	M	0.83118	2.625	0.35797	D	0.822876	P	0.47106	0.89	B	0.41332	0.354	T	0.18147	-1.0346	10	0.62326	D	0.03	.	9.1001	0.36662	0.0:0.9024:0.0:0.0976	.	90	Q8WV35	LRC29_HUMAN	N	90	ENSP00000386622:D90N;ENSP00000377561:D90N;ENSP00000387318:D90N;ENSP00000344364:D90N;ENSP00000409459:D90N	ENSP00000344364:D90N	D	-	1	0	LRRC29	65799733	0.997000	0.39634	0.997000	0.53966	0.992000	0.81027	3.615000	0.54167	2.525000	0.85131	0.650000	0.86243	GAT	LRRC29	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.627	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC29	HGNC	protein_coding	OTTHUMT00000335073.1	C	NM_012163		67242232	-1	no_errors	ENST00000341546	ensembl	human	known	70_37	missense	SNP	0.998	T	T	67242232	C	T	67242232	3	4	153	1	0	0	0	0	1	0	0	0	9006	826	29	1	415	1	LRRC29	16	67242232	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	284696	67242232	23112521	1063	27037										
FHOD1	29109	genome.wustl.edu	37	chr16	67263777	67263777	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttggtcactgactgcaccaGaaggtccatgatctcatctg	9	12	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:67263777G>C	ENST00000258201.4	-	21	3578	c.3331C>G	c.(3331-3333)Ctg>Gtg	p.L1111V	LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|AC040160.1_ENST00000454102.2_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1111	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACTGCACCAGAAGGTCCATG	0.567																																																	0													81	82	82					16																	67263777		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3331C>G	16.37:g.67263777G>C	ENSP00000258201:p.Leu1111Val		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L1111V	ENST00000258201.4	37	c.3331	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766543	0.49574	.	.	ENSG00000135723	ENST00000258201	T	0.43294	0.95	5.46	2.38	0.29361	.	0.000000	0.64402	D	0.000001	T	0.58323	0.2114	M	0.84326	2.69	0.80722	D	1	D	0.61080	0.989	P	0.60682	0.878	T	0.60949	-0.7161	10	0.87932	D	0	.	7.5061	0.27545	0.1468:0.0:0.7184:0.1348	.	1111	Q9Y613	FHOD1_HUMAN	V	1111	ENSP00000258201:L1111V	ENSP00000258201:L1111V	L	-	1	2	FHOD1	65821278	0.984000	0.35163	1.000000	0.80357	0.956000	0.61745	1.923000	0.40055	0.859000	0.35456	-0.181000	0.13052	CTG	FHOD1	-	NULL		0.567	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	G			67263777	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.955	C	C	67263777	G	C	67263777	3	2	153	1	0	0	0	0	1	0	0	0	5900	933	33	1	171	1	FHOD1	16	67263777	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	21545	67263777	23090976	1064	27038										
DPEP2	64174	genome.wustl.edu	37	chr16	68026435	68026435	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggcgcccacgaggccatctCtaagcctgtccaggctggtc	13	15	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:68026435C>G	ENST00000572888.1	-	2	1018	c.368G>C	c.(367-369)aGa>aCa	p.R123T	DPEP2_ENST00000412757.2_Missense_Mutation_p.R123T|DPEP2_ENST00000393847.1_Missense_Mutation_p.R123T			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	123					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GAGGCCATCTCTAAGCCTGTC	0.592																																																	0													90	84	86					16																	68026435		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.368G>C	16.37:g.68026435C>G	ENSP00000458977:p.Arg123Thr		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R123T	ENST00000572888.1	37	c.368	CCDS10857.1	16	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576942	0.45902	.	.	ENSG00000167261	ENST00000393847;ENST00000412757	T;T	0.26067	1.76;1.76	3.69	-2.08	0.07254	.	0.602763	0.17496	N	0.172174	T	0.23171	0.0560	M	0.67397	2.05	0.80722	D	1	B	0.32467	0.372	B	0.35413	0.202	T	0.06180	-1.0841	10	0.62326	D	0.03	-0.117	5.212	0.15322	0.0:0.2754:0.167:0.5577	.	123	Q9H4A9	DPEP2_HUMAN	T	123	ENSP00000377430:R123T;ENSP00000412549:R123T	ENSP00000377430:R123T	R	-	2	0	DPEP2	66583936	0.000000	0.05858	0.871000	0.34182	0.991000	0.79684	-0.141000	0.10327	-0.365000	0.08076	0.561000	0.74099	AGA	DPEP2	-	pfam_Peptidase_M19		0.592	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	C	NM_022355		68026435	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	0.976	G	G	68026435	C	G	68026435	3	3	153	1	0	0	0	0	1	0	0	0	4724	913	32	1	1128	1	DPEP2	16	68026435	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	762658	68026435	22328318	1065	27039										
SNTB2	6645	genome.wustl.edu	37	chr16	69318079	69318079	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagacacatcgggatctgtCatcctggaccaggatacttg	12	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:69318079C>A	ENST00000336278.4	+	5	1315	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	426	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGGGATCTGTCATCCTGGACC	0.498																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													132	120	124					16																	69318079		2198	4300	6498	SO:0001587	stop_gained	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1277C>A	16.37:g.69318079C>A	ENSP00000338191:p.Ser426*		Q9BY09	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S426*	ENST00000336278.4	37	c.1277	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.721178	0.96839	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-5.5163	18.6271	0.91344	0.0:1.0:0.0:0.0	.	.	.	.	X	426;77	.	ENSP00000338191:S426X	S	+	2	0	SNTB2	67875580	1.000000	0.71417	0.918000	0.36340	0.866000	0.49608	7.675000	0.84002	2.485000	0.83878	0.655000	0.94253	TCA	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	C			69318079	1	no_errors	ENST00000336278	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	69318079	C	A	69318079	4	1	153	1	0	0	0	0	0	1	0	0	14903	838	29	3	1295	3	SNTB2	16	69318079	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1291644	69318079	21036674	1066	27040										
COG4	197258	genome.wustl.edu	37	chr16	70515274	70515274	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccacctacccgctccagattGaggatggtggccatctggga	12	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70515274G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.L741L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCTCCAGATTGAGGATGGTGG	0.592																																																	0													94	99	98					16																	70515274		2198	4300	6498	SO:0001628	intergenic_variant	25839				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70515274G>A			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.L741	ENST00000288078.6	37	c.2223	CCDS10891.2	16																																																																																			COG4	-	NULL		0.592	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000157291.2	G	NM_145059		70515274	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70515274	G	A	70515274	1	1	153	0	1	0	0	0	0	0	0	0	3665	1277	45	1		1	COG4	16	70515274	IGR	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1197195	70515274	19839479	1067	27041										
MTSS1L	92154	genome.wustl.edu	37	chr16	70697963	70697963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgccaggggtgaggcggtctCgtcggtatagaagacgcact	16	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70697963C>T	ENST00000338779.6	-	15	2135	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	621					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GAGGCGGTCTCGTCGGTATAG	0.697																																																	0																																										SO:0001583	missense	92154				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1861G>A	16.37:g.70697963C>T	ENSP00000341171:p.Glu621Lys		A6NJI7|Q9BUA8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.E621K	ENST00000338779.6	37	c.1861	CCDS32476.1	16	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109760	0.37242	.	.	ENSG00000132613	ENST00000338779	T	0.29655	1.56	4.37	4.37	0.52481	.	0.435018	0.22971	N	0.053440	T	0.16128	0.0388	N	0.22421	0.69	0.36475	D	0.867514	P	0.35700	0.516	B	0.29440	0.102	T	0.14172	-1.0482	10	0.12103	T	0.63	-21.1374	10.2316	0.43258	0.0:0.9013:0.0:0.0987	.	621	Q765P7	MTSSL_HUMAN	K	621	ENSP00000341171:E621K	ENSP00000341171:E621K	E	-	1	0	MTSS1L	69255464	0.612000	0.27000	0.998000	0.56505	0.533000	0.34776	1.939000	0.40213	1.961000	0.56991	0.462000	0.41574	GAG	MTSS1L	-	NULL		0.697	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1L	HGNC	protein_coding	OTTHUMT00000434927.3	C	NM_138383		70697963	-1	no_errors	ENST00000338779	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70697963	C	T	70697963	3	4	153	1	0	0	0	0	1	0	0	0	9986	893	31	1	386	1	MTSS1L	16	70697963	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	182689	70697963	19656790	1068	27042										
VAC14	55697	genome.wustl.edu	37	chr16	70765451	70765451	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttccgttcgctgctgaatctCttgagaaggttgatcatgaa	10	8	2	4	rs142435180		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70765451C>G	ENST00000261776.5	-	14	1868	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	536					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCTGAATCTCTTGAGAAGGT	0.512																																																	0													119	121	121					16																	70765451		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1608G>C	16.37:g.70765451C>G	ENSP00000261776:p.Lys536Asn		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.K536N	ENST00000261776.5	37	c.1608	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365556	0.41902	.	.	ENSG00000103043	ENST00000261776	T	0.66995	-0.24	5.51	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.043260	0.85682	D	0.000000	T	0.54303	0.1850	L	0.52126	1.63	0.80722	D	1	P;B	0.39576	0.679;0.005	B;B	0.36134	0.218;0.008	T	0.50524	-0.8818	10	0.10902	T	0.67	-22.8277	10.2594	0.43416	0.0:0.8501:0.0:0.1499	.	466;536	B4DMP4;Q08AM6	.;VAC14_HUMAN	N	536	ENSP00000261776:K536N	ENSP00000261776:K536N	K	-	3	2	VAC14	69322952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.000000	0.29770	1.336000	0.45506	0.655000	0.94253	AAG	VAC14	-	superfamily_ARM-type_fold		0.512	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70765451	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70765451	C	G	70765451	3	3	153	1	0	0	0	0	1	0	0	0	17142	912	32	1	764	1	VAC14	16	70765451	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	67488	70765451	19589302	1069	27043										
VAC14	55697	genome.wustl.edu	37	chr16	70796924	70796924	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagggtcactggggctctttCagtgctgtgggtaagatcgg	16	7	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70796924C>G	ENST00000261776.5	-	11	1425	c.1165G>C	c.(1165-1167)Gaa>Caa	p.E389Q	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	389					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGGCTCTTTCAGTGCTGTGG	0.587																																																	0													95	75	82					16																	70796924		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1165G>C	16.37:g.70796924C>G	ENSP00000261776:p.Glu389Gln		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.E389Q	ENST00000261776.5	37	c.1165	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036411	0.75617	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.249235	0.46758	D	0.000273	T	0.57242	0.2040	L	0.56769	1.78	0.80722	D	1	B	0.20887	0.049	B	0.14023	0.01	T	0.52170	-0.8611	9	0.16896	T	0.51	-4.565	15.2986	0.73928	0.0:0.8606:0.1394:0.0	.	389	Q08AM6	VAC14_HUMAN	Q	389	.	ENSP00000261776:E389Q	E	-	1	0	VAC14	69354425	1.000000	0.71417	0.203000	0.23512	0.959000	0.62525	5.696000	0.68287	2.677000	0.91161	0.563000	0.77884	GAA	VAC14	-	superfamily_ARM-type_fold		0.587	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70796924	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	0.981	G	G	70796924	C	G	70796924	3	3	153	1	0	0	0	0	1	0	0	0	17142	835	29	1	1219	1	VAC14	16	70796924	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	31473	70796924	19557829	1070	27044										
VAC14	55697	genome.wustl.edu	37	chr16	70817361	70817361	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactcacattttgcgaatctCtttgccattgtcacccagga	6	13	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70817361C>G	ENST00000261776.5	-	6	951	c.691G>C	c.(691-693)Gag>Cag	p.E231Q		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	231					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTGCGAATCTCTTTGCCATTG	0.572																																																	0													74	73	74					16																	70817361		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.691G>C	16.37:g.70817361C>G	ENSP00000261776:p.Glu231Gln		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.E231Q	ENST00000261776.5	37	c.691	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535214	0.85812	.	.	ENSG00000103043	ENST00000261776	T	0.68479	-0.33	5.75	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.044539	0.85682	D	0.000000	T	0.77512	0.4141	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.49528	0.614	T	0.82894	-0.0231	10	0.72032	D	0.01	-29.1086	14.2018	0.65710	0.0:0.928:0.0:0.0719	.	231	Q08AM6	VAC14_HUMAN	Q	231	ENSP00000261776:E231Q	ENSP00000261776:E231Q	E	-	1	0	VAC14	69374862	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.469000	0.80959	1.435000	0.47434	0.655000	0.94253	GAG	VAC14	-	superfamily_ARM-type_fold		0.572	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70817361	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70817361	C	G	70817361	3	3	153	1	0	0	0	0	1	0	0	0	17142	922	32	1	1713	1	VAC14	16	70817361	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	20437	70817361	19537392	1071	27045										
HYDIN	54768	genome.wustl.edu	37	chr16	71008192	71008192	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	attctttacacgatctagctCagtactgaatcctggaccaa	6	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:71008192C>G	ENST00000393567.2	-	33	5071	c.4921G>C	c.(4921-4923)Gag>Cag	p.E1641Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1641					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGATCTAGCTCAGTACTGAAT	0.423																																																	0													23	21	22					16																	71008192		1813	4065	5878	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4921G>C	16.37:g.71008192C>G	ENSP00000377197:p.Glu1641Gln		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.E1640Q	ENST00000393567.2	37	c.4918	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684244	0.29872	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01126	5.3	4.68	1.28	0.21552	.	0.000000	0.32970	U	0.005437	T	0.02230	0.0069	M	0.82056	2.57	0.80722	D	1	B	0.13594	0.008	B	0.18263	0.021	T	0.43065	-0.9414	10	0.33940	T	0.23	.	11.4768	0.50302	0.0:0.6902:0.2345:0.0753	.	1640	F8WD23	.	Q	1641;1640	ENSP00000377197:E1641Q	ENSP00000313052:E1640Q	E	-	1	0	HYDIN	69565693	0.997000	0.39634	0.973000	0.42090	0.141000	0.21300	2.904000	0.48719	0.153000	0.19213	-1.521000	0.00933	GAG	HYDIN	-	NULL		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71008192	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.996	G	G	71008192	C	G	71008192	3	3	153	1	0	0	0	0	1	0	0	0	7487	835	29	1	10660	1	HYDIN	16	71008192	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	190831	71008192	19346561	1072	27046										
CHST4	10164	genome.wustl.edu	37	chr16	71571446	71571446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccctgtggcccagacttcccGaatgtatgaattcgtgggat	11	11	0	2	rs146072743	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:71571446G>A	ENST00000338482.5	+	3	1209	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CHST4_ENST00000539698.3_Missense_Mutation_p.R289Q|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R289Q			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	289					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGACTTCCCGAATGTATGAA	0.562											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG,GLN/ARG	0,4396		0,0,2198	89	78	82		866,866	1.1	0.1	16	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	CHST4	NM_001166395.1,NM_005769.2	43,43	0,4,6494	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	289/387,289/387	71571446	4,12992	2198	4300	6498	SO:0001583	missense	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.866G>A	16.37:g.71571446G>A	ENSP00000341206:p.Arg289Gln	1131	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.R289Q	ENST00000338482.5	37	c.866	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.808021	0.02819	0.0	4.65E-4	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.83506	-1.73;-1.73	6.02	1.13	0.20643	Sulfotransferase domain (1);	0.648698	0.15268	N	0.271430	T	0.66005	0.2746	N	0.17312	0.475	0.09310	N	1	B	0.20550	0.046	B	0.16289	0.015	T	0.49331	-0.8951	10	0.18710	T	0.47	-6.7456	8.6496	0.34027	0.4531:0.0:0.5469:0.0	.	289	Q8NCG5	CHST4_HUMAN	Q	289	ENSP00000341206:R289Q;ENSP00000441204:R289Q	ENSP00000341206:R289Q	R	+	2	0	CHST4	70128947	0.000000	0.05858	0.062000	0.19696	0.049000	0.14656	0.447000	0.21710	0.374000	0.24650	-0.122000	0.15005	CGA	CHST4	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.562	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	G	NM_005769		71571446	1	no_errors	ENST00000338482	ensembl	human	known	70_37	missense	SNP	0.000	A	A	71571446	G	A	71571446	3	1	153	1	0	0	0	0	1	0	0	0	3411	1058	37	1	868	1	CHST4	16	71571446	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	563254	71571446	18783307	1073	27047										
DHX38	9785	genome.wustl.edu	37	chr16	72133176	72133176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagcagtgggaagatgaccaGagggtaaagttttatacctc	12	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:72133176G>C	ENST00000268482.3	+	7	1466	c.957G>C	c.(955-957)caG>caC	p.Q319H	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	319					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AAGATGACCAGAGGGTAAAGT	0.562																																					Melanoma(97;711 1442 7855 13832 28836)												0													47	35	39					16																	72133176		2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.957G>C	16.37:g.72133176G>C	ENSP00000268482:p.Gln319His		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q319H	ENST00000268482.3	37	c.957	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906945	0.72868	.	.	ENSG00000140829	ENST00000268482	T	0.03301	3.98	4.27	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	M	0.84219	2.685	0.80722	D	1	D	0.56968	0.978	P	0.58391	0.838	T	0.00555	-1.1673	10	0.72032	D	0.01	.	10.7747	0.46342	0.1627:0.0:0.8373:0.0	.	319	Q92620	PRP16_HUMAN	H	319	ENSP00000268482:Q319H	ENSP00000268482:Q319H	Q	+	3	2	DHX38	70690677	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.284000	0.43478	0.917000	0.36895	0.557000	0.71058	CAG	DHX38	-	NULL		0.562	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	G	NM_014003		72133176	1	no_errors	ENST00000268482	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72133176	G	C	72133176	3	2	153	1	0	0	0	0	1	0	0	0	4521	933	33	1	979	1	DHX38	16	72133176	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	561730	72133176	18221577	1074	27048										
ZFHX3	463	genome.wustl.edu	37	chr16	72831052	72831052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagatctgctgatggctctgCtgtgggacctgaacctgagc	13	10	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:72831052C>G	ENST00000268489.5	-	9	6201	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q929H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1843					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GATGGCTCTGCTGTGGGACCT	0.597																																																	0													90	90	90					16																	72831052		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5529G>C	16.37:g.72831052C>G	ENSP00000268489:p.Gln1843His		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q1843H	ENST00000268489.5	37	c.5529	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660635	0.29515	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72835	-0.69;-0.67	6.03	4.1	0.47936	.	0.140180	0.32416	N	0.006123	T	0.56514	0.1990	N	0.03154	-0.405	0.53005	D	0.999964	D	0.67145	0.996	P	0.59703	0.862	T	0.53599	-0.8416	10	0.08179	T	0.78	.	9.9447	0.41602	0.0:0.7367:0.0:0.2632	.	1843	Q15911	ZFHX3_HUMAN	H	1843;929	ENSP00000268489:Q1843H;ENSP00000438926:Q929H	ENSP00000268489:Q1843H	Q	-	3	2	ZFHX3	71388553	0.994000	0.37717	1.000000	0.80357	0.970000	0.65996	0.385000	0.20685	0.889000	0.36185	0.655000	0.94253	CAG	ZFHX3	-	NULL		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72831052	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72831052	C	G	72831052	3	3	153	1	0	0	0	0	1	0	0	0	17664	796	28	4	5590	4	ZFHX3	16	72831052	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	697876	72831052	17523701	1075	27049										
ZFP1	162239	genome.wustl.edu	37	chr16	75203198	75203198	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agagagaccacagaaacccaGacgagcaggcgaggcaattt	12	10	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:75203198G>A	ENST00000393430.2	+	4	314	c.190G>A	c.(190-192)Gac>Aac	p.D64N	ZFP1_ENST00000464850.1_Silent_p.Q69Q|ZFP1_ENST00000570010.1_Missense_Mutation_p.D64N|ZFP1_ENST00000567481.1_Silent_p.Q69Q|ZFP1_ENST00000332307.4_Missense_Mutation_p.D31N|ZFP1_ENST00000563356.1_3'UTR|ZFP1_ENST00000568079.1_Silent_p.Q21Q			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						CAGAAACCCAGACGAGCAGGC	0.438																																					NSCLC(187;1429 2122 10143 20357 42217)												0													68	79	75					16																	75203198		2198	4300	6498	SO:0001583	missense	162239			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"Zinc fingers, C2H2-type", "-"	23328	protein-coding gene	gene with protein product			"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.190G>A	16.37:g.75203198G>A	ENSP00000377080:p.Asp64Asn		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D64N	ENST00000393430.2	37	c.190	CCDS10914.2	16	.	.	.	.	.	.	.	.	.	.	G	3.491	-0.103805	0.06967	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.06768	3.26	5.04	3.05	0.35203	Krueppel-associated box (3);	0.941777	0.08812	N	0.890042	T	0.05593	0.0147	N	0.17474	0.49	0.09310	N	0.999995	B	0.10296	0.003	B	0.10450	0.005	T	0.44877	-0.9299	10	0.20046	T	0.44	-5.2582	7.3795	0.26847	0.0903:0.1674:0.7423:0.0	.	64	Q6P2D0	ZFP1_HUMAN	N	64	ENSP00000377080:D64N	ENSP00000333192:D64N	D	+	1	0	ZFP1	73760699	0.158000	0.22850	0.038000	0.18304	0.121000	0.20230	0.797000	0.26999	0.818000	0.34468	0.561000	0.74099	GAC	ZFP1	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2	G	NM_153688		75203198	1	no_errors	ENST00000393430	ensembl	human	known	70_37	missense	SNP	0.004	A	A	75203198	G	A	75203198	3	1	153	1	0	0	0	0	1	0	0	0	17666	942	33	1	200	1	ZFP1	16	75203198	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2372146	75203198	15151555	1076	27050										
PKD1L2	114780	genome.wustl.edu	37	chr16	81248664	81248664	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcatccctgctccagatctGaaggacgcccggcatcctgg	11	15	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:81248664G>A	ENST00000525539.1	-	0	598				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.S200L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCCAGATCTGAAGGACGCCC	0.652											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											17	22	21					16																	81248664		2009	4167	6176			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248664G>A		1204	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.S200L	ENST00000525539.1	37	c.599		16	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900649	0.17686	.	.	ENSG00000166473	ENST00000337114	T	0.18502	2.21	4.67	4.67	0.58626	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	1.910350	0.03083	N	0.158819	T	0.14527	0.0351	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12156	0.006;0.007	T	0.11036	-1.0604	9	0.45353	T	0.12	-0.1246	6.4261	0.21770	0.1299:0.0:0.7016:0.1685	.	200;200	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	200	ENSP00000337397:S200L	ENSP00000337397:S200L	S	-	2	0	PKD1L2	79806165	0.006000	0.16342	0.706000	0.30403	0.021000	0.10359	1.571000	0.36450	2.132000	0.65825	0.650000	0.86243	TCA	DKFZP686J19100	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.652	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	Uniprot_genename	polymorphic_pseudogene	OTTHUMT00000387972.2	G			81248664	-1	no_errors	ENST00000337114	ensembl	human	known	70_37	missense	SNP	0.020	A	A	81248664	G	A	81248664	1	1	153	0	1	0	0	0	0	0	0	0	11989	1294	45	1		1	PKD1L2	16	81248664	RNA	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6045466	81248664	9106089	1077	27051										
ZDHHC7	55625	genome.wustl.edu	37	chr16	85022397	85022397	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggctttgcacagactcggttCcctcaccacaaatgcccaca	7	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:85022397C>T	ENST00000313732.4	-	3	668				ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G133E	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7						peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						AGACTCGGTTCCCTCACCACA	0.557																																																	0													79	79	79					16																	85022397		692	1591	2283	SO:0001627	intron_variant	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.315+1512G>A	16.37:g.85022397C>T			D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.G133E	ENST00000313732.4	37	c.398	CCDS10950.1	16	.	.	.	.	.	.	.	.	.	.	C	6.240	0.412430	0.11812	.	.	ENSG00000153786	ENST00000344861	T	0.34472	1.36	1.6	-0.777	0.10981	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.31174	0.311	B	0.24006	0.05	T	0.25047	-1.0143	8	0.02654	T	1	.	4.1195	0.10099	0.0:0.5065:0.0:0.4935	.	133	Q9NXF8-2	.	E	133	ENSP00000341681:G133E	ENSP00000341681:G133E	G	-	2	0	ZDHHC7	83579898	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.708000	0.05035	-0.193000	0.10415	0.313000	0.20887	GGA	ZDHHC7	-	NULL		0.557	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1	C	NM_017740		85022397	-1	no_errors	ENST00000344861	ensembl	human	known	70_37	missense	SNP	0.001	T	T	85022397	C	T	85022397	1	4	153	0	1	0	0	0	0	0	0	0	17650	855	30	1		1	ZDHHC7	16	85022397	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3773733	85022397	5332356	1078	27052										
FOXF1	2294	genome.wustl.edu	37	chr16	86546673	86546673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggtcacctaccaagacatCaagccttgcgtgatgtgagg	11	11	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:86546673C>G	ENST00000262426.4	+	2	1165	c.1122C>G	c.(1120-1122)atC>atG	p.I374M		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	374					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCAAGACATCAAGCCTTGCG	0.607																																																	0													41	41	41					16																	86546673		2198	4300	6498	SO:0001583	missense	2294			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.1122C>G	16.37:g.86546673C>G	ENSP00000262426:p.Ile374Met		B2RAF4|Q5FWE5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I374M	ENST00000262426.4	37	c.1122	CCDS10957.2	16	.	.	.	.	.	.	.	.	.	.	C	31	5.081460	0.94050	.	.	ENSG00000103241	ENST00000262426	D	0.97256	-4.31	5.14	5.14	0.70334	.	0.079394	0.52532	D	0.000073	D	0.97636	0.9225	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.98588	1.0653	10	0.87932	D	0	.	17.9469	0.89042	0.0:1.0:0.0:0.0	.	374	Q12946	FOXF1_HUMAN	M	374	ENSP00000262426:I374M	ENSP00000262426:I374M	I	+	3	3	FOXF1	85104174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.691000	0.47010	2.533000	0.85409	0.655000	0.94253	ATC	FOXF1	-	NULL		0.607	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	HGNC	protein_coding	OTTHUMT00000269103.2	C	NM_001451		86546673	1	no_errors	ENST00000262426	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86546673	C	G	86546673	3	3	153	1	0	0	0	0	1	0	0	0	6023	816	29	1	1128	1	FOXF1	16	86546673	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1524276	86546673	3808080	1079	27053										
CDH15	1013	genome.wustl.edu	37	chr16	89251681	89251681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagcagggcagccccgagctCttcagcatcgacgagctcac	11	16	3	0	rs150272643		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89251681C>T	ENST00000289746.2	+	5	668	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCCCGAGCTCTTCAGCATCG	0.677																																																	0								C		0,4386		0,0,2193	49	44	45		603	-0.6	1	16	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	CDH15	NM_004933.2		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		201/815	89251681	1,12979	2193	4297	6490	SO:0001819	synonymous_variant	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.603C>T	16.37:g.89251681C>T				Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L201	ENST00000289746.2	37	c.603	CCDS10976.1	16																																																																																			CDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	C	NM_004933		89251681	1	no_errors	ENST00000289746	ensembl	human	known	70_37	silent	SNP	0.999	T	T	89251681	C	T	89251681	2	4	153	1	0	0	0	0	0	0	0	1	3105	900	32	1		1	CDH15	16	89251681	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2705008	89251681	1103072	1080	27054										
ANKRD11	29123	genome.wustl.edu	37	chr16	89350571	89350571	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctttatcttctttaaaaatCttctccttctcttttgaaat	1	9	6	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89350571C>T	ENST00000301030.4	-	9	2839	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K	ANKRD11_ENST00000378330.2_Silent_p.K793K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	793	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTAAAAATCTTCTCCTTCT	0.308																																																	0													31	34	33					16																	89350571		2185	4291	6476	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2379G>A	16.37:g.89350571C>T			Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K793	ENST00000301030.4	37	c.2379	CCDS32513.1	16																																																																																			ANKRD11	-	NULL		0.308	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	C	NM_013275		89350571	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	silent	SNP	0.925	T	T	89350571	C	T	89350571	2	4	153	1	0	0	0	0	0	0	0	1	639	912	32	1		1	ANKRD11	16	89350571	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	98890	89350571	1004182	1081	27055										
FANCA	2175	genome.wustl.edu	37	chr16	89806408	89806408	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcgtgtttcttaccactctCtgtcaactgaaagagtgcca	8	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89806408C>G	ENST00000389301.3	-	39	3958	c.3928G>C	c.(3928-3930)Gag>Cag	p.E1310Q	FANCA_ENST00000568369.1_Missense_Mutation_p.E1310Q|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1310					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTACCACTCTCTGTCAACTGA	0.512			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													157	157	157					16																	89806408		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3928G>C	16.37:g.89806408C>G	ENSP00000373952:p.Glu1310Gln		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.E1310Q	ENST00000389301.3	37	c.3928	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029196	0.35797	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83755	-1.76	5.34	3.02	0.34903	.	0.378699	0.25344	N	0.031359	D	0.86990	0.6066	M	0.67953	2.075	0.28726	N	0.902766	D;D;D	0.63880	0.992;0.993;0.993	P;D;D	0.63113	0.883;0.911;0.911	T	0.79976	-0.1576	10	0.40728	T	0.16	-10.1068	10.0142	0.42006	0.0:0.788:0.0:0.212	.	287;1310;1310	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	Q	1310;287	ENSP00000373952:E1310Q	ENSP00000306281:E287Q	E	-	1	0	FANCA	88333909	0.146000	0.22672	0.208000	0.23602	0.066000	0.16364	0.665000	0.25083	1.395000	0.46643	0.555000	0.69702	GAG	FANCA	-	pfam_Fanconia,prints_Fanconia		0.512	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	C			89806408	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	missense	SNP	0.354	G	G	89806408	C	G	89806408	3	3	153	1	0	0	0	0	1	0	0	0	5680	922	32	1	459	1	FANCA	16	89806408	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	455837	89806408	548345	1082	27056										
SPIRE2	84501	genome.wustl.edu	37	chr16	89922592	89922592	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaagatcctggaggagatCaagcaggagcggaggctgcg	18	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89922592C>G	ENST00000378247.3	+	7	1093	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	SPIRE2_ENST00000393062.2_Missense_Mutation_p.I350M	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	350	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGAGGAGATCAAGCAGGAGC	0.692																																																	0													22	23	23					16																	89922592		2190	4292	6482	SO:0001583	missense	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1050C>G	16.37:g.89922592C>G	ENSP00000367494:p.Ile350Met		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.I350M	ENST00000378247.3	37	c.1050	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448956	0.63178	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.65178	-0.12;-0.14	4.95	0.531	0.17108	Actin-binding WH2 (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.997;0.999	T	0.72795	-0.4185	10	0.87932	D	0	-41.0993	3.0737	0.06239	0.1878:0.4291:0.0:0.3831	.	217;350;302;350	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	M	350	ENSP00000367494:I350M;ENSP00000376782:I350M	ENSP00000367494:I350M	I	+	3	3	SPIRE2	88450093	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	0.794000	0.26958	0.627000	0.30340	0.485000	0.47835	ATC	SPIRE2	-	NULL		0.692	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462		89922592	1	no_errors	ENST00000378247	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89922592	C	G	89922592	3	3	153	1	0	0	0	0	1	0	0	0	15102	816	29	1	1076	1	SPIRE2	16	89922592	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	116184	89922592	432161	1083	27057										
SPIRE2	84501	genome.wustl.edu	37	chr16	89925647	89925647	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcatgacctggcccagctCcgaagtgaggtggcctctgg	15	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89925647C>G	ENST00000378247.3	+	9	1390	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L	SPIRE2_ENST00000393062.2_Silent_p.L449L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	449					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGCCCAGCTCCGAAGTGAGG	0.682																																																	0													56	52	53					16																	89925647		2198	4298	6496	SO:0001819	synonymous_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1347C>G	16.37:g.89925647C>G			A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.L449	ENST00000378247.3	37	c.1347	CCDS32516.1	16																																																																																			SPIRE2	-	NULL		0.682	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462		89925647	1	no_errors	ENST00000378247	ensembl	human	known	70_37	silent	SNP	0.743	G	G	89925647	C	G	89925647	2	3	153	1	0	0	0	0	0	0	0	1	15102	842	30	1		1	SPIRE2	16	89925647	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3055	89925647	429106	1084	27058										
TCF25	22980	genome.wustl.edu	37	chr16	89977541	89977541	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgaaccgcaaccagggcctGaacaggctgatgctggctgt	13	12	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89977541G>C	ENST00000263346.8	+	18	1982	c.1926G>C	c.(1924-1926)ctG>ctC	p.L642L	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Missense_Mutation_p.E447Q	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	642					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		ACCAGGGCCTGAACAGGCTGA	0.662																																																	0													48	46	47					16																	89977541		2196	4297	6493	SO:0001819	synonymous_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1926G>C	16.37:g.89977541G>C			Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.E447Q	ENST00000263346.8	37	c.1339	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636412	0.67130	.	.	ENSG00000141002	ENST00000263347	.	.	.	5.08	3.09	0.35607	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.24325	N	0.995029	B	0.12630	0.006	B	0.17722	0.019	T	0.41963	-0.9479	7	0.87932	D	0	.	14.8644	0.70404	0.0:0.2434:0.7566:0.0	.	447	Q9H384	.	Q	447	.	ENSP00000263347:E447Q	E	+	1	0	TCF25	88505042	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.480000	0.45206	0.529000	0.28599	-0.539000	0.04255	GAA	TCF25	-	NULL		0.662	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89977541	1	no_errors	ENST00000263347	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89977541	G	C	89977541	2	2	153	1	0	0	0	0	0	0	0	1	15723	1277	45	1		1	TCF25	16	89977541	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	51894	89977541	377212	1085	27059										
TCF25	22980	genome.wustl.edu	37	chr16	89977645	89977645	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggggagggggagtgggactGagcgtccgcagaggtgaccg	23	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89977645G>C	ENST00000263346.8	+	18	2086	c.2030G>C	c.(2029-2031)tGa>tCa	p.*677S	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	0					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAGTGGGACTGAGCGTCCGCA	0.607																																																	0													42	42	42					16																	89977645		2195	4296	6491	SO:0001578	stop_lost	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.2030G>C	16.37:g.89977645G>C	ENSP00000263346:p.*677Serext*26		Q2MK75|Q9UPV3	Nonstop_Mutation	SNP	pfam_TCF25	p.*677S	ENST00000263346.8	37	c.2030	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968654	0.53614	.	.	ENSG00000141002	ENST00000263346	.	.	.	5.35	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7362	0.34530	0.2328:0.0:0.7672:0.0	.	.	.	.	S	677	.	.	X	+	2	2	TCF25	88505146	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.298000	0.43602	1.248000	0.43934	0.655000	0.94253	TGA	TCF25	-	NULL		0.607	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89977645	1	no_errors	ENST00000263346	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	89977645	G	C	89977645	4	2	153	1	0	0	0	0	0	0	0	0	15723	1285	45	1	2100	1	TCF25	16	89977645	Nonstop_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	104	89977645	377108	1086	27060										
MYO1C	4641	genome.wustl.edu	37	chr17	1377928	1377928	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctggccgcttcttgtcactGagctcgctccggtcaaagca	10	14	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1377928G>A	ENST00000575158.1	-	17	1844	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	MYO1C_ENST00000359786.5_Silent_p.L591L|MYO1C_ENST00000438665.2_Silent_p.L572L|MYO1C_ENST00000545534.2_Silent_p.L567L|MYO1C_ENST00000361007.2_Silent_p.L556L			Q12965	MYO1E_HUMAN	myosin IC	551	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTGTCACTGAGCTCGCTCC	0.637																																																	0													110	109	110					17																	1377928		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1668C>T	17.37:g.1377928G>A			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L591	ENST00000575158.1	37	c.1773	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1377928	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1377928	G	A	1377928	2	1	153	1	0	0	0	0	0	0	0	1	10093	1277	45	1		1	MYO1C	17	1377928	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		1377928	79817282	1087	27061										
RPA1	6117	genome.wustl.edu	37	chr17	1798302	1798302	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttttatgtttgtttttgcaGaatgaacaggcatttgaaga	10	3	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1798302G>A	ENST00000254719.5	+	16	1769		c.e16-1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGTTTTTGCAGAATGAACAGG	0.393								Nucleotide excision repair (NER)																																									0													176	185	182					17																	1798302		2203	4300	6503	SO:0001630	splice_region_variant	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1660-1G>A	17.37:g.1798302G>A			A8K0Y9|Q59ES9	Splice_Site	SNP	-	e16-1	ENST00000254719.5	37	c.1660-1	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300170	0.81136	.	.	ENSG00000132383	ENST00000254719	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.739	0.91767	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPA1	1745052	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.431000	0.97494	2.664000	0.90586	0.650000	0.86243	.	RPA1	-	-		0.393	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	G	NM_002945	Intron	1798302	1	no_errors	ENST00000254719	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	1798302	G	A	1798302	5	1	153	1	0	0	0	0	0	0	1	0	13566	956	33	1	1721	1	RPA1	17	1798302	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	420374	1798302	79396908	1088	27062										
OR1E1	8387	genome.wustl.edu	37	chr17	3301186	3301186	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcacagaaaaagtgggggatCacattgtctgcacaaaaaca	9	8	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:3301186C>G	ENST00000322608.2	-	1	518	c.519G>C	c.(517-519)gtG>gtC	p.V173V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						AGTGGGGGATCACATTGTCTG	0.498																																																	0													57	49	52					17																	3301186		2202	4298	6500	SO:0001819	synonymous_variant	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.519G>C	17.37:g.3301186C>G			O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V173	ENST00000322608.2	37	c.519	CCDS11024.1	17																																																																																			OR1E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3301186	-1	no_errors	ENST00000322608	ensembl	human	known	70_37	silent	SNP	0.071	G	G	3301186	C	G	3301186	2	3	153	1	0	0	0	0	0	0	0	1	10978	813	29	1		1	OR1E1	17	3301186	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1502884	3301186	77894024	1089	27063										
ASPA	443	genome.wustl.edu	37	chr17	3379673	3379673	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgacctgaatcgcatttttGaccttgaaaatcttgggtaa	9	7	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:3379673G>C	ENST00000263080.2	+	1	378	c.220G>C	c.(220-222)Gac>Cac	p.D74H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.D74H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	74					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TCGCATTTTTGACCTTGAAAA	0.373																																																	0													164	144	151					17																	3379673		2203	4300	6503	SO:0001583	missense	443			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.220G>C	17.37:g.3379673G>C	ENSP00000263080:p.Asp74His			Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.D74H	ENST00000263080.2	37	c.220	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	17.17	3.321863	0.60634	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97791	-4.54;-4.54	5.73	5.73	0.89815	.	0.137880	0.64402	D	0.000003	D	0.96018	0.8703	L	0.42245	1.32	0.80722	D	1	P	0.43909	0.821	B	0.41174	0.349	D	0.95136	0.8259	10	0.33940	T	0.23	-6.3308	19.2764	0.94032	0.0:0.0:1.0:0.0	.	74	P45381	ACY2_HUMAN	H	74	ENSP00000409976:D74H;ENSP00000263080:D74H	ENSP00000263080:D74H	D	+	1	0	ASPA	3326423	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.114000	0.64648	2.882000	0.98803	0.655000	0.94253	GAC	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase		0.373	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	G	NM_000049		3379673	1	no_errors	ENST00000263080	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3379673	G	C	3379673	3	2	153	1	0	0	0	0	1	0	0	0	1051	1290	45	1	222	1	ASPA	17	3379673	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	78487	3379673	77815537	1090	27064										
ANKFY1	51479	genome.wustl.edu	37	chr17	4088218	4088218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccaagctggtcagggatgCggcctcctttggcagaggca	15	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:4088218C>T	ENST00000341657.4	-	12	1629	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|Y_RNA_ENST00000516003.1_RNA|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	532					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.A532T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCAGGGATGCGGCCTCCTTT	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											78	87	84					17																	4088218		2176	4268	6444	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1594G>A	17.37:g.4088218C>T	ENSP00000343362:p.Ala532Thr		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.A574T	ENST00000341657.4	37	c.1720		17	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528246	0.04112	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.49139	0.79	5.12	-1.28	0.09318	Ankyrin repeat-containing domain (2);	0.723299	0.14266	N	0.330497	T	0.31670	0.0804	L	0.54908	1.71	0.19945	N	0.999944	B;B;B;B	0.15141	0.001;0.012;0.001;0.0	B;B;B;B	0.14023	0.01;0.004;0.001;0.0	T	0.24621	-1.0155	10	0.14252	T	0.57	3.0E-4	2.0699	0.03611	0.1066:0.2435:0.3195:0.3305	.	473;532;532;574	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	532;473	ENSP00000343362:A532T	ENSP00000343362:A532T	A	-	1	0	ANKFY1	4034967	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.156000	0.10100	-0.360000	0.08138	0.655000	0.94253	GCA	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4088218	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	0.001	T	T	4088218	C	T	4088218	3	4	153	1	0	0	0	0	1	0	0	0	626	768	27	2	1974	2	ANKFY1	17	4088218	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	708545	4088218	77106992	1091	27065										
CHRNE	1145	genome.wustl.edu	37	chr17	4804874	4804874	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatggtcttgccgtcgttgtCtacggcaaaagtgaactcca	11	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:4804874C>T	ENST00000293780.4	-	6	557	c.547G>A	c.(547-549)Gac>Aac	p.D183N	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	183					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CCGTCGTTGTCTACGGCAAAA	0.602																																																	0													196	161	173					17																	4804874		2203	4300	6503	SO:0001583	missense	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.547G>A	17.37:g.4804874C>T	ENSP00000293780:p.Asp183Asn		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.D183N	ENST00000293780.4	37	c.547	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770884	0.31320	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.62	3.65	0.41850	Neurotransmitter-gated ion-channel ligand-binding (3);	0.356365	0.22393	N	0.060652	T	0.73218	0.3559	L	0.50919	1.6	0.51767	D	0.999939	B	0.29136	0.234	B	0.34536	0.185	T	0.73164	-0.4069	10	0.66056	D	0.02	.	10.6394	0.45584	0.0:0.9053:0.0:0.0947	.	183	Q04844	ACHE_HUMAN	N	183	ENSP00000293780:D183N	ENSP00000293780:D183N	D	-	1	0	CHRNE	4745653	0.004000	0.15560	0.121000	0.21740	0.005000	0.04900	1.994000	0.40757	1.176000	0.42840	0.561000	0.74099	GAC	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	C			4804874	-1	no_errors	ENST00000293780	ensembl	human	known	70_37	missense	SNP	0.104	T	T	4804874	C	T	4804874	3	4	153	1	0	0	0	0	1	0	0	0	3400	913	32	1	962	1	CHRNE	17	4804874	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	716656	4804874	76390336	1092	27066										
USP6	9098	genome.wustl.edu	37	chr17	5072095	5072095	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcgatttcaatttgtaaatGatcagtggataaaatcacag	8	5	3	1	rs369207088		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:5072095G>C	ENST00000574788.1	+	35	5492	c.3262G>C	c.(3262-3264)Gat>Cat	p.D1088H	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.D1088H|USP6_ENST00000304328.5_Missense_Mutation_p.D771H			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1088	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTGTAAATGATCAGTGGAT	0.373			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													80	94	89					17																	5072095		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3262G>C	17.37:g.5072095G>C	ENSP00000460380:p.Asp1088His		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.D1088H	ENST00000574788.1	37	c.3262	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042331	0.07452	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.31769	1.48;1.48	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.044468	0.85682	D	0.000000	T	0.26557	0.0649	N	0.04508	-0.205	0.26518	N	0.974488	D;D	0.64830	0.975;0.994	P;D	0.64410	0.8;0.925	T	0.09335	-1.0679	10	0.37606	T	0.19	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	771;1088	P35125-2;P35125	.;UBP6_HUMAN	H	1088;771	ENSP00000250066:D1088H;ENSP00000305473:D771H	ENSP00000250066:D1088H	D	+	1	0	USP6	5012819	1.000000	0.71417	0.994000	0.49952	0.055000	0.15305	8.953000	0.93041	1.313000	0.45069	0.184000	0.17185	GAT	USP6	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.373	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5072095	1	no_errors	ENST00000250066	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5072095	G	C	5072095	3	2	153	1	0	0	0	0	1	0	0	0	17117	1290	45	1	3364	1	USP6	17	5072095	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	267221	5072095	76123115	1093	27067										
TEKT1	83659	genome.wustl.edu	37	chr17	6718600	6718600	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtccttcaaatccttctcaaGattgtacttggcagagcggt	9	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:6718600G>C	ENST00000338694.2	-	5	640	c.511C>G	c.(511-513)Ctt>Gtt	p.L171V	TEKT1_ENST00000535086.1_Missense_Mutation_p.L25V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	171						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTTCTCAAGATTGTACTTG	0.498																																																	0													183	169	174					17																	6718600		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.511C>G	17.37:g.6718600G>C	ENSP00000341346:p.Leu171Val		D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.L171V	ENST00000338694.2	37	c.511	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897985	0.72639	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.06608	3.28;3.28	5.18	4.19	0.49359	.	0.070093	0.64402	D	0.000015	T	0.26085	0.0636	M	0.86740	2.835	0.52099	D	0.999942	D	0.71674	0.998	D	0.67382	0.951	T	0.03545	-1.1026	10	0.49607	T	0.09	.	12.203	0.54337	0.0854:0.0:0.9146:0.0	.	171	Q969V4	TEKT1_HUMAN	V	171;25	ENSP00000341346:L171V;ENSP00000444142:L25V	ENSP00000341346:L171V	L	-	1	0	TEKT1	6659324	0.997000	0.39634	0.962000	0.40283	0.993000	0.82548	2.438000	0.44837	1.292000	0.44672	0.655000	0.94253	CTT	TEKT1	-	pfam_Tektin		0.498	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	G	NM_053285		6718600	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.993	C	C	6718600	G	C	6718600	3	2	153	1	0	0	0	0	1	0	0	0	15782	942	33	1	761	1	TEKT1	17	6718600	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1646505	6718600	74476610	1094	27068										
ZBTB4	57659	genome.wustl.edu	37	chr17	7366072	7366072	+	Silent	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaccgtgggcctcttggtgCttccgcagctttctcagggt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7366072C>T	ENST00000311403.4	-	4	2568	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	ZBTB4_ENST00000380599.4_Silent_p.K743K	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	743					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCTCTTGGTGCTTCCGCAGCT	0.711																																																	0													39	44	42					17																	7366072		2126	4189	6315	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2229G>A	17.37:g.7366072C>T			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K743	ENST00000311403.4	37	c.2229	CCDS11107.1	17																																																																																			ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.711	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7366072	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	silent	SNP	0.987	T	T	7366072	C	T	7366072	2	4	153	1	0	0	0	0	0	0	0	1	17571	796	28	4		4	ZBTB4	17	7366072	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	647472	7366072	73829138	1095	27069	161	2								
ZBTB4	57659	genome.wustl.edu	37	chr17	7366075	7366075	+	Silent	SNP	C	C	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgtgggcctcttggtgcttCcgcagctttctcagggtggt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7366075C>A	ENST00000311403.4	-	4	2565	c.2226G>T	c.(2224-2226)cgG>cgT	p.R742R	ZBTB4_ENST00000380599.4_Silent_p.R742R	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	742					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTTGGTGCTTCCGCAGCTTTC	0.697																																																	0													39	45	43					17																	7366075		2126	4192	6318	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2226G>T	17.37:g.7366075C>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R742	ENST00000311403.4	37	c.2226	CCDS11107.1	17																																																																																			ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7366075	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	silent	SNP	0.103	A	A	7366075	C	A	7366075	2	1	153	1	0	0	0	0	0	0	0	1	17571	842	30	3		3	ZBTB4	17	7366075	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3	7366075	73829135	1096	27070	161	2								
POLR2A	5430	genome.wustl.edu	37	chr17	7400231	7400231	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgagatcttcaaacgcatctCagatgaggagtgttttgtgc	11	7	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7400231C>T	ENST00000322644.6	+	5	1085	c.686C>T	c.(685-687)tCa>tTa	p.S229L	POLR2A_ENST00000572844.1_Missense_Mutation_p.S229L	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	229					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAACGCATCTCAGATGAGGAG	0.552																																																	0													116	87	97					17																	7400231		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.686C>T	17.37:g.7400231C>T	ENSP00000314949:p.Ser229Leu		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S229L	ENST00000322644.6	37	c.686	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673498	0.88445	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.66815	-0.23	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 1 (1);	0.148904	0.46145	D	0.000308	D	0.83982	0.5372	M	0.92833	3.35	0.45528	D	0.998488	P;P	0.49185	0.92;0.901	P;B	0.55923	0.787;0.446	D	0.87798	0.2623	10	0.87932	D	0	-7.711	18.1461	0.89655	0.0:1.0:0.0:0.0	.	229;229	P24928;Q6NX41	RPB1_HUMAN;.	L	185;229	ENSP00000314949:S229L	ENSP00000314949:S229L	S	+	2	0	SLC35G6	7340955	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.158000	0.77470	2.584000	0.87258	0.563000	0.77884	TCA	POLR2A	-	pfam_RNA_pol_Rpb1_1		0.552	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7400231	1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7400231	C	T	7400231	3	4	153	1	0	0	0	0	1	0	0	0	12238	838	29	1	704	1	POLR2A	17	7400231	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	34156	7400231	73794979	1097	27071										
TP53	7157	genome.wustl.edu	37	chr17	7577065	7577065	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcgtggtgaggctcccctttCttgcggagattctcttcctc	10	13	2	2	rs372613518		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7577065C>T	ENST00000269305.4	-	8	1062	c.873G>A	c.(871-873)aaG>aaA	p.K291K	TP53_ENST00000420246.2_Silent_p.K291K|TP53_ENST00000455263.2_Silent_p.K291K|TP53_ENST00000359597.4_Silent_p.K291K|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Silent_p.K291K	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	291	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; 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.K291fs*48(8)|p.0?(8)|p.K291N(3)|p.?(2)|p.R290fs*53(2)|p.K291K(2)|p.T284_G293del10(1)|p.E294fs*51(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTCCCCTTTCTTGCGGAGAT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	34	Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(3)|Substitution - Missense(3)|Unknown(2)|Substitution - coding silent(2)|Complex - deletion inframe(1)	upper_aerodigestive_tract(11)|urinary_tract(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|salivary_gland(1)|stomach(1)|endometrium(1)|oesophagus(1)|ovary(1)|pancreas(1)											103	89	94					17																	7577065		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.873G>A	17.37:g.7577065C>T			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	Silent	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.K291	ENST00000269305.4	37	c.873	CCDS11118.1	17																																																																																			TP53	-	NULL		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577065	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	silent	SNP	0.998	T	T	7577065	C	T	7577065	2	4	153	1	0	0	0	0	0	0	0	1	16412	912	32	1		1	TP53	17	7577065	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	176834	7577065	73618145	1098	27072										
TP53	7157	genome.wustl.edu	37	chr17	7577077	7577077	+	Silent	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccctttcttgcggagattCtcttcctctgtgcgccggtc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7577077C>T	ENST00000269305.4	-	8	1050	c.861G>A	c.(859-861)gaG>gaA	p.E287E	TP53_ENST00000420246.2_Silent_p.E287E|TP53_ENST00000455263.2_Silent_p.E287E|TP53_ENST00000359597.4_Silent_p.E287E|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Silent_p.E287E	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	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; 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.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TGCGGAGATTCTCTTCCTCTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	49	Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - coding silent(5)|Unknown(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(20)|large_intestine(4)|urinary_tract(4)|breast(4)|bone(4)|liver(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(1)|lung(1)											99	85	89					17																	7577077		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.861G>A	17.37:g.7577077C>T			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	Silent	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.E287	ENST00000269305.4	37	c.861	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577077	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	silent	SNP	0.910	T	T	7577077	C	T	7577077	2	4	153	1	0	0	0	0	0	0	0	1	16412	912	32	1		1	TP53	17	7577077	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12	7577077	73618133	1099	27073	162	2								
TP53	7157	genome.wustl.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttgcggagattctcttcctCtgtgcgccggtctctcccag					rs112431538		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E285K	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; 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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	GRCh37	CM995136	TP53	M	rs112431538						91	78	82					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.E285K	ENST00000269305.4	37	c.853	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577085	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.995	T	T	7577085	C	T	7577085	3	4	153	1	0	0	0	0	1	0	0	0	16412	922	32	1	433	1	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	8	7577085	73618125	1100	27074	162	2								
DNAH2	146754	genome.wustl.edu	37	chr17	7644300	7644300	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctccggcgtcgcatcgacaGagtcatgaccgtaagtgcct	11	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7644300G>A	ENST00000572933.1	+	11	3139	c.1679G>A	c.(1678-1680)aGa>aAa	p.R560K	DNAH2_ENST00000389173.2_Missense_Mutation_p.R560K|DNAH2_ENST00000570791.1_Missense_Mutation_p.R642K|DNAH2_ENST00000082259.3_Missense_Mutation_p.R642K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	560	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGCATCGACAGAGTCATGACC	0.587																																																	0													69	65	67					17																	7644300		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1679G>A	17.37:g.7644300G>A	ENSP00000458355:p.Arg560Lys		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R560K	ENST00000572933.1	37	c.1679	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574552	0.28092	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.53857	0.6;0.6	5.23	5.23	0.72850	Dynein heavy chain, domain-1 (1);	0.151333	0.46442	D	0.000290	T	0.40767	0.1130	N	0.25286	0.73	0.28742	N	0.901895	B;B	0.22080	0.024;0.064	B;B	0.25140	0.058;0.054	T	0.16129	-1.0413	10	0.15952	T	0.53	.	17.5708	0.87933	0.0:0.0:1.0:0.0	.	560;642	Q9P225;Q9P225-3	DYH2_HUMAN;.	K	560;560;642	ENSP00000373825:R560K;ENSP00000082259:R642K	ENSP00000082259:R642K	R	+	2	0	DNAH2	7585025	1.000000	0.71417	0.996000	0.52242	0.062000	0.15995	5.976000	0.70484	2.461000	0.83175	0.557000	0.71058	AGA	DNAH2	-	pfam_Dynein_heavy_dom-1		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7644300	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.965	A	A	7644300	G	A	7644300	3	1	153	1	0	0	0	0	1	0	0	0	4612	942	33	1	1717	1	DNAH2	17	7644300	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	67215	7644300	73550910	1101	27075										
CHD3	1107	genome.wustl.edu	37	chr17	7802461	7802461	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgacaccattctagctgatGagatggggctaggcaagacc	12	10	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7802461G>A	ENST00000330494.7	+	14	2434	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	CHD3_ENST00000380358.4_Missense_Mutation_p.E821K|CHD3_ENST00000358181.4_Missense_Mutation_p.E762K	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	762	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTAGCTGATGAGATGGGGCT	0.552																																																	0													138	129	132					17																	7802461		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2284G>A	17.37:g.7802461G>A	ENSP00000332628:p.Glu762Lys		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E762K	ENST00000330494.7	37	c.2284	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011141	0.75046	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.95690	-3.78;-3.78;-3.78	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.46758	D	0.000280	D	0.98485	0.9495	H	0.94542	3.55	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.81914	0.987;0.992;0.995	D	0.99201	1.0873	10	0.87932	D	0	-30.9039	19.6995	0.96047	0.0:0.0:1.0:0.0	.	762;762;821	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	K	821;762;762	ENSP00000369716:E821K;ENSP00000350907:E762K;ENSP00000332628:E762K	ENSP00000332628:E762K	E	+	1	0	CHD3	7743186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.790000	0.99075	2.744000	0.94065	0.561000	0.74099	GAG	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.552	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7802461	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7802461	G	A	7802461	3	1	153	1	0	0	0	0	1	0	0	0	3331	1291	45	1	2619	1	CHD3	17	7802461	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	158161	7802461	73392749	1102	27076										
MYH3	4621	genome.wustl.edu	37	chr17	10542717	10542717	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctgctggtgcgcctcttgGagggccttcttctctctggt	13	13	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:10542717G>C	ENST00000583535.1	-	24	3087	c.3000C>G	c.(2998-3000)ctC>ctG	p.L1000L	MYH3_ENST00000226209.7_Silent_p.L1000L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1000					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCGCCTCTTGGAGGGCCTTCT	0.433																																																	0													65	63	64					17																	10542717		2203	4300	6503	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3000C>G	17.37:g.10542717G>C			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1000	ENST00000583535.1	37	c.3000	CCDS11157.1	17																																																																																			MYH3	-	NULL		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10542717	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	silent	SNP	0.976	C	C	10542717	G	C	10542717	2	2	153	1	0	0	0	0	0	0	0	1	10059	1161	41	1		1	MYH3	17	10542717	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2740256	10542717	70652493	1103	27077										
CDRT1	374286	genome.wustl.edu	37	chr17	15519028	15519028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaaggaagggatgtgtgctGagttttggctgtccaataga	14	5	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:15519028G>C	ENST00000395906.3	-	2	600	c.601C>G	c.(601-603)Cag>Gag	p.Q201E	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.Q511E	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	201										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GATGTGTGCTGAGTTTTGGCT	0.468																																																	0													60	63	62					17																	15519028		2202	4297	6499	SO:0001583	missense	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.601C>G	17.37:g.15519028G>C	ENSP00000379242:p.Gln201Glu		O43848|O95611	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q201E	ENST00000395906.3	37	c.601	CCDS45619.1	17	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156402	0.09236	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.24151	1.87	3.68	1.41	0.22369	.	.	.	.	.	T	0.10337	0.0253	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.019;0.017	B;B	0.12156	0.006;0.007	T	0.37407	-0.9707	9	0.02654	T	1	.	4.1677	0.10315	0.0:0.1265:0.2963:0.5772	.	201;525	O95170;Q59EB2	CDRT1_HUMAN;.	E	201	ENSP00000379242:Q201E	ENSP00000261644:Q201E	Q	-	1	0	RP11-385D13.1	15459753	0.002000	0.14202	0.002000	0.10522	0.026000	0.11368	0.174000	0.16743	0.290000	0.22444	0.555000	0.69702	CAG	CDRT1	-	NULL		0.468	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT1	HGNC	protein_coding	OTTHUMT00000448127.1	G	NM_006382		15519028	-1	no_errors	ENST00000395906	ensembl	human	known	70_37	missense	SNP	0.002	C	C	15519028	G	C	15519028	3	2	153	1	0	0	0	0	1	0	0	0	3179	1299	45	1	1701	1	CDRT1	17	15519028	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4976311	15519028	65676182	1104	27078										
LLGL1	3996	genome.wustl.edu	37	chr17	18138202	18138202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgccccgtgccagctatggtGaccgccactgtgtaagtgtg	13	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:18138202G>A	ENST00000316843.4	+	9	1051	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	319					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CAGCTATGGTGACCGCCACTG	0.582																																																	0													87	66	73					17																	18138202		2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.955G>A	17.37:g.18138202G>A	ENSP00000321537:p.Asp319Asn		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.D319N	ENST00000316843.4	37	c.955	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.331232	0.95733	.	.	ENSG00000131899	ENST00000316843	T	0.06449	3.3	5.61	4.64	0.57946	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.085103	0.85682	D	0.000000	T	0.19725	0.0474	M	0.81239	2.535	0.80722	D	1	P	0.51240	0.943	P	0.54401	0.751	T	0.00975	-1.1494	10	0.49607	T	0.09	-41.9064	13.3446	0.60564	0.0772:0.0:0.9228:0.0	.	319	Q15334	L2GL1_HUMAN	N	319	ENSP00000321537:D319N	ENSP00000321537:D319N	D	+	1	0	LLGL1	18078927	1.000000	0.71417	0.930000	0.37139	0.996000	0.88848	7.960000	0.87893	1.401000	0.46761	0.644000	0.83932	GAC	LLGL1	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant		0.582	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	G			18138202	1	no_errors	ENST00000316843	ensembl	human	known	70_37	missense	SNP	0.999	A	A	18138202	G	A	18138202	3	1	153	1	0	0	0	0	1	0	0	0	8854	1290	45	1	989	1	LLGL1	17	18138202	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2619174	18138202	63057008	1105	27079										
TRIM16L	147166	genome.wustl.edu	37	chr17	18638554	18638554	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccactcaaagctggccctttCtggaggctcggggtctatat	11	12	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:18638554C>G	ENST00000449552.2	+	7	2312	c.828C>G	c.(826-828)ttC>ttG	p.F276L	TRIM16L_ENST00000395671.4_Missense_Mutation_p.F276L|TRIM16L_ENST00000395672.2_Missense_Mutation_p.F276L|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Missense_Mutation_p.F276L|TRIM16L_ENST00000572555.1_Missense_Mutation_p.F276L|TRIM16L_ENST00000395902.3_Missense_Mutation_p.F330L			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	276	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CTGGCCCTTTCTGGAGGCTCG	0.522																																																	0													76	78	77					17																	18638554		2203	4300	6503	SO:0001583	missense	147166			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.828C>G	17.37:g.18638554C>G	ENSP00000461386:p.Phe276Leu		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.F330L	ENST00000449552.2	37	c.990	CCDS32588.1	17	.	.	.	.	.	.	.	.	.	.	c	6.292	0.422056	0.11928	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.68331	-0.32;-0.32;-0.32	3.35	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.417666	0.23971	U	0.042762	T	0.48642	0.1511	L	0.31157	0.91	0.29810	N	0.831694	P;P;P	0.38617	0.64;0.64;0.64	B;B;B	0.40602	0.334;0.334;0.334	T	0.42481	-0.9449	10	0.10111	T	0.7	-5.9929	6.4223	0.21750	0.0:0.8628:0.0:0.1372	.	330;492;276	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	L	330;276;276	ENSP00000379239:F330L;ENSP00000379031:F276L;ENSP00000379030:F276L	ENSP00000379030:F276L	F	+	3	2	TRIM16L	18579279	0.489000	0.26004	0.431000	0.26735	0.053000	0.15095	0.908000	0.28545	1.710000	0.51325	0.194000	0.17425	TTC	TRIM16L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	C	NM_001037330		18638554	1	no_errors	ENST00000395902	ensembl	human	known	70_37	missense	SNP	0.998	G	G	18638554	C	G	18638554	3	3	153	1	0	0	0	0	1	0	0	0	16523	912	32	1	842	1	TRIM16L	17	18638554	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	500352	18638554	62556656	1106	27080										
RNF112	7732	genome.wustl.edu	37	chr17	19318606	19318606	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtatctccgcagaacctctCaggatggatggggaggacag	15	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:19318606C>G	ENST00000461366.1	+	12	1519	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	435						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.S436*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGAACCTCTCAGGATGGATG	0.627																																																	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											21	24	23					17																	19318606		1924	4115	6039	SO:0001587	stop_gained	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1304C>G	17.37:g.19318606C>G	ENSP00000454919:p.Ser435*		O60633|Q7Z5V9	Nonsense_Mutation	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.S435*	ENST00000461366.1	37	c.1304	CCDS58529.1	17																																																																																			RNF112	-	NULL		0.627	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	C	NM_007148		19318606	1	no_errors	ENST00000461366	ensembl	human	novel	70_37	nonsense	SNP	0.634	G	G	19318606	C	G	19318606	4	3	153	1	0	0	0	0	0	1	0	0	13456	838	29	1	1060	1	RNF112	17	19318606	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	680052	19318606	61876604	1107	27081										
KCNJ12	3768	genome.wustl.edu	37	chr17	21319444	21319444	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggcctggaccgcatctttCtggtgtcgcccatcaccatc	10	15	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:21319444C>G	ENST00000583088.1	+	3	1685	c.790C>G	c.(790-792)Ctg>Gtg	p.L264V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L264V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	264					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCGCATCTTTCTGGTGTCGCC	0.612										Prostate(3;0.18)																																							0													125	94	105					17																	21319444		2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.790C>G	17.37:g.21319444C>G	ENSP00000463778:p.Leu264Val		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.L264V	ENST00000583088.1	37	c.790	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876967	0.51801	.	.	ENSG00000184185	ENST00000331718	D	0.95788	-3.81	5.43	4.37	0.52481	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.64402	D	0.000002	D	0.97324	0.9125	M	0.89478	3.035	0.48452	D	0.99965	D	0.89917	1.0	D	0.91635	0.999	D	0.96750	0.9553	10	0.62326	D	0.03	.	6.3235	0.21231	0.0:0.734:0.0:0.266	.	264	Q14500	IRK12_HUMAN	V	264	ENSP00000328150:L264V	ENSP00000328150:L264V	L	+	1	2	KCNJ12	21260037	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.326000	0.33735	2.554000	0.86153	0.655000	0.94253	CTG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	C	NM_021012		21319444	1	no_errors	ENST00000331718	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21319444	C	G	21319444	3	3	153	1	0	0	0	0	1	0	0	0	8066	912	32	1	792	1	KCNJ12	17	21319444	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2000838	21319444	59875766	1108	27082										
WSB1	26118	genome.wustl.edu	37	chr17	25631899	25631899	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatcctggtgtcagcttcaaGagacaaaactctcagagtat	9	9	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:25631899G>C	ENST00000262394.2	+	4	888	c.572G>C	c.(571-573)aGa>aCa	p.R191T	WSB1_ENST00000427287.2_Missense_Mutation_p.R160T|WSB1_ENST00000581185.1_Missense_Mutation_p.R191T|WSB1_ENST00000348811.2_Missense_Mutation_p.R45T|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Missense_Mutation_p.R45T	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	191					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCAGCTTCAAGAGACAAAACT	0.388																																																	0													134	130	131					17																	25631899		2203	4300	6503	SO:0001583	missense	26118			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"WD repeat domain containing"	19221	protein-coding gene	gene with protein product		610091	"WD repeat and SOCS box-containing 1"			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.572G>C	17.37:g.25631899G>C	ENSP00000262394:p.Arg191Thr		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R191T	ENST00000262394.2	37	c.572	CCDS11220.1	17	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215540	0.58452	.	.	ENSG00000109046	ENST00000262394;ENST00000427287;ENST00000348811	T;T;T	0.62788	0.0;0.0;0.0	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.39020	1.185	0.58432	D	0.999998	B;B;B;B;B	0.32409	0.004;0.103;0.041;0.208;0.37	B;B;B;B;B	0.30316	0.012;0.038;0.016;0.068;0.114	T	0.47623	-0.9103	10	0.17832	T	0.49	-16.0531	19.3277	0.94268	0.0:0.0:1.0:0.0	.	160;191;191;45;191	B4DGB8;B4DTL1;Q9Y6I7-3;Q9Y6I7-2;Q9Y6I7	.;.;.;.;WSB1_HUMAN	T	191;160;45	ENSP00000262394:R191T;ENSP00000416112:R160T;ENSP00000327055:R45T	ENSP00000262394:R191T	R	+	2	0	WSB1	22656026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.421000	0.73353	2.812000	0.96745	0.555000	0.69702	AGA	WSB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.388	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB1	HGNC	protein_coding	OTTHUMT00000255391.4	G	NM_015626		25631899	1	no_errors	ENST00000262394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25631899	G	C	25631899	3	2	153	1	0	0	0	0	1	0	0	0	17435	942	33	1	586	1	WSB1	17	25631899	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4312455	25631899	55563311	1109	27083										
PHF12	57649	genome.wustl.edu	37	chr17	27239783	27239783	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccagtggcattctctgtcttCacaatgatgccgacggtgtg	11	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27239783C>T	ENST00000332830.4	-	9	2616	c.1806G>A	c.(1804-1806)gtG>gtA	p.V602V	PHF12_ENST00000268756.3_Silent_p.V602V|PHF12_ENST00000577226.1_Silent_p.V602V|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTCTGTCTTCACAATGATGC	0.642																																																	0													45	52	50					17																	27239783		2203	4299	6502	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1806G>A	17.37:g.27239783C>T				Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.V602	ENST00000332830.4	37	c.1806	CCDS32598.1	17																																																																																			PHF12	-	NULL		0.642	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27239783	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27239783	C	T	27239783	2	4	153	1	0	0	0	0	0	0	0	1	11847	813	29	1		1	PHF12	17	27239783	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1607884	27239783	53955427	1110	27084										
PHF12	57649	genome.wustl.edu	37	chr17	27244306	27244306	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acctgattgtgactcaccttCaagcttcttcttttgaccga	6	12	4	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27244306C>T	ENST00000332830.4	-	7	1941	c.1131G>A	c.(1129-1131)ttG>ttA	p.L377L	PHF12_ENST00000268756.3_Silent_p.L377L|PHF12_ENST00000577226.1_Silent_p.L377L|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GACTCACCTTCAAGCTTCTTC	0.517																																																	0													101	87	92					17																	27244306		2203	4300	6503	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1131G>A	17.37:g.27244306C>T				Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.L377	ENST00000332830.4	37	c.1131	CCDS32598.1	17																																																																																			PHF12	-	NULL		0.517	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27244306	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27244306	C	T	27244306	2	4	153	1	0	0	0	0	0	0	0	1	11847	825	29	1		1	PHF12	17	27244306	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4523	27244306	53950904	1111	27085										
SEZ6	124925	genome.wustl.edu	37	chr17	27283392	27283392	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaagtagaagtatacacctCctaccaacaacaccatcgcc	5	14	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27283392C>G	ENST00000317338.12	-	15	3253	c.2825G>C	c.(2824-2826)gGa>gCa	p.G942A	SEZ6_ENST00000360295.9_Missense_Mutation_p.G942A|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.G929A			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	942					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTATACACCTCCTACCAACAA	0.547																																																	0													35	36	35					17																	27283392		2145	4260	6405	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2825G>C	17.37:g.27283392C>G	ENSP00000312942:p.Gly942Ala		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G942A	ENST00000317338.12	37	c.2825	CCDS45639.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627687|1.627687	0.28978|0.28978	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632|ENST00000538978;ENST00000535262;ENST00000535762	T|.	0.27104|.	1.69|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.320832|.	0.29424|.	N|.	0.012187|.	T|T	0.71753|0.71753	0.3377|0.3377	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46784|.	0.884;0.537;0.539|.	P;B;B|.	0.45610|.	0.487;0.32;0.085|.	T|T	0.70757|0.70757	-0.4785|-0.4785	10|5	0.35671|.	T|.	0.21|.	.|.	13.9199|13.9199	0.63926|0.63926	0.0:0.8475:0.1525:0.0|0.0:0.8475:0.1525:0.0	.|.	942;817;942|.	Q53EL9-3;Q53EL9-2;Q53EL9|.	.;.;SEZ6_HUMAN|.	A|S	942;942;817;59|135;22;65	ENSP00000353440:G942A|.	ENSP00000312942:G817A|.	G|R	-|-	2|3	0|2	SEZ6|SEZ6	24307518|24307518	0.968000|0.968000	0.33430|0.33430	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	4.489000|4.489000	0.60309|0.60309	2.650000|2.650000	0.89964|0.89964	0.491000|0.491000	0.48974|0.48974	GGA|AGG	SEZ6	-	NULL		0.547	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	C			27283392	-1	no_errors	ENST00000317338	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27283392	C	G	27283392	3	3	153	1	0	0	0	0	1	0	0	0	14172	855	30	1	184	1	SEZ6	17	27283392	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	39086	27283392	53911818	1112	27086										
EFCAB5	374786	genome.wustl.edu	37	chr17	28382920	28382920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttagaaactacaaaaaagGaagttcagaaagacaagccc	7	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:28382920G>A	ENST00000394835.3	+	11	2401	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	EFCAB5_ENST00000541045.1_Missense_Mutation_p.E394K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E737K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E737K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E681K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E737K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	737							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TACAAAAAAGGAAGTTCAGAA	0.333																																																	0													114	106	108					17																	28382920		1825	4085	5910	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2209G>A	17.37:g.28382920G>A	ENSP00000378312:p.Glu737Lys		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E737K	ENST00000394835.3	37	c.2209	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	0.500	-0.871279	0.02570	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.48201	1.81;0.82;2.83;2.87;2.15;1.8;2.89	5.11	0.589	0.17452	.	1.726240	0.03119	N	0.163436	T	0.39655	0.1086	M	0.62723	1.935	0.09310	N	1	B;B;B;B;B;B	0.20887	0.029;0.049;0.049;0.049;0.046;0.008	B;B;B;B;B;B	0.20184	0.012;0.028;0.018;0.018;0.014;0.011	T	0.16600	-1.0397	10	0.02654	T	1	-3.1083	4.168	0.10315	0.2887:0.1722:0.5392:0.0	.	681;681;737;737;737;737	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	K	681;480;394;737;737;737;737;681;543	ENSP00000440619:E681K;ENSP00000445575:E394K;ENSP00000378312:E737K;ENSP00000322003:E737K;ENSP00000378309:E737K;ENSP00000368012:E737K;ENSP00000417009:E543K	ENSP00000322003:E737K	E	+	1	0	EFCAB5	25407046	0.006000	0.16342	0.000000	0.03702	0.769000	0.43574	0.726000	0.25984	0.270000	0.21984	0.585000	0.79938	GAA	EFCAB5	-	NULL		0.333	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	G	NM_198529		28382920	1	no_errors	ENST00000394835	ensembl	human	known	70_37	missense	SNP	0.000	A	A	28382920	G	A	28382920	3	1	153	1	0	0	0	0	1	0	0	0	4948	1175	41	1	2251	1	EFCAB5	17	28382920	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1099528	28382920	52812290	1113	27087										
ATAD5	79915	genome.wustl.edu	37	chr17	29161319	29161319	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaaagacttcacccacaaatGagaagacacaattagggaaa	8	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29161319G>C	ENST00000321990.4	+	2	598	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	74					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACCCACAAATGAGAAGACACA	0.378																																																	0													87	86	86					17																	29161319		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.220G>C	17.37:g.29161319G>C	ENSP00000313171:p.Glu74Gln		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E74Q	ENST00000321990.4	37	c.220	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888190	0.17540	.	.	ENSG00000176208	ENST00000321990	T	0.15952	2.38	5.86	5.86	0.93980	.	0.288487	0.38837	N	0.001550	T	0.35508	0.0934	M	0.68952	2.095	0.36492	D	0.868487	D	0.60575	0.988	P	0.54815	0.761	T	0.09271	-1.0682	10	0.31617	T	0.26	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	74	Q96QE3	ATAD5_HUMAN	Q	74	ENSP00000313171:E74Q	ENSP00000313171:E74Q	E	+	1	0	ATAD5	26185445	1.000000	0.71417	0.959000	0.39883	0.357000	0.29423	4.860000	0.62961	2.776000	0.95493	0.655000	0.94253	GAG	ATAD5	-	NULL		0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29161319	1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	0.997	C	C	29161319	G	C	29161319	3	2	153	1	0	0	0	0	1	0	0	0	1077	1291	45	1	226	1	ATAD5	17	29161319	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	778399	29161319	52033891	1114	27088										
NF1	4763	genome.wustl.edu	37	chr17	29509567	29509567	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttggtggatggttttgctGaaagcaccaaacgtaaagca	11	7	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29509567G>T	ENST00000358273.4	+	8	1155	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	NF1_ENST00000431387.4_Nonsense_Mutation_p.E258*|NF1_ENST00000356175.3_Nonsense_Mutation_p.E258*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	258					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGTTTTGCTGAAAGCACCAA	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)											109	91	97					17																	29509567		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.772G>T	17.37:g.29509567G>T	ENSP00000351015:p.Glu258*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E258*	ENST00000358273.4	37	c.772	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.013858	0.98002	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.47	5.47	0.80525	.	0.124120	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.3325	0.94297	0.0:0.0:1.0:0.0	.	.	.	.	X	258	.	ENSP00000348498:E258X	E	+	1	0	NF1	26533693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.798000	0.91888	2.573000	0.86826	0.561000	0.74099	GAA	NF1	-	NULL		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29509567	1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29509567	G	T	29509567	4	4	153	1	0	0	0	0	0	1	0	0	10380	1291	45	3	802	3	NF1	17	29509567	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	348248	29509567	51685643	1115	27089										
NF1	4763	genome.wustl.edu	37	chr17	29527570	29527570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catcaattgggaagataactCtgtcattttcctacttgttc	6	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29527570C>G	ENST00000358273.4	+	9	1402	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	NF1_ENST00000431387.4_Missense_Mutation_p.S340C|NF1_ENST00000356175.3_Missense_Mutation_p.S340C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTC	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	GRCh37	CD972347	NF1	D							119	106	110					17																	29527570		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1019C>G	17.37:g.29527570C>G	ENSP00000351015:p.Ser340Cys		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S340C	ENST00000358273.4	37	c.1019	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310687	0.81358	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.67171	2.73;-0.25;-0.25;2.88	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;D;D	0.79784	0.864;0.992;0.922;0.993;0.993	T	0.80781	-0.1229	10	0.48119	T	0.1	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	340;340;340;340;340	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	C	340;340;340;6	ENSP00000412921:S340C;ENSP00000351015:S340C;ENSP00000348498:S340C;ENSP00000389907:S6C	ENSP00000348498:S340C	S	+	2	0	NF1	26551696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.182000	0.77689	2.542000	0.85734	0.591000	0.81541	TCT	NF1	-	superfamily_ARM-type_fold		0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29527570	1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29527570	C	G	29527570	3	3	153	1	0	0	0	0	1	0	0	0	10380	913	32	1	1053	1	NF1	17	29527570	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	18003	29527570	51667640	1116	27090										
NF1	4763	genome.wustl.edu	37	chr17	29546122	29546122	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cacacatgccagagattgctCaggaagcaatggaggtaagg	13	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29546122C>T	ENST00000358273.4	+	14	2010	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q543*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q543*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	543					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAGATTGCTCAGGAAGCAAT	0.453			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	GRCh37	CM020463	NF1	M							69	62	65					17																	29546122		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1627C>T	17.37:g.29546122C>T	ENSP00000351015:p.Gln543*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Q543*	ENST00000358273.4	37	c.1627	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597178	0.87055	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.7165	0.96122	0.0:1.0:0.0:0.0	.	.	.	.	X	543;543;543;209	.	ENSP00000348498:Q543X	Q	+	1	0	NF1	26570248	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.229000	0.78088	2.665000	0.90641	0.585000	0.79938	CAG	NF1	-	superfamily_ARM-type_fold		0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29546122	1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29546122	C	T	29546122	4	4	153	1	0	0	0	0	0	1	0	0	10380	827	29	1	1681	1	NF1	17	29546122	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	18552	29546122	51649088	1117	27091										
GGNBP2	79893	genome.wustl.edu	37	chr17	34923557	34923557	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggaatgcagggatgaagtaGttttaattgactcgagttgt	13	3	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:34923557G>C	ENST00000304718.4	+	6	899	c.583G>C	c.(583-585)Gtt>Ctt	p.V195L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGATGAAGTAGTTTTAATTGA	0.393																																																	0													182	169	174					17																	34923557		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.583G>C	17.37:g.34923557G>C	ENSP00000307617:p.Val195Leu		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.V195L	ENST00000304718.4	37	c.583	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379447	0.82682	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.117810	0.56097	D	0.000026	T	0.52500	0.1738	L	0.38531	1.155	0.80722	D	1	P;P	0.42871	0.792;0.525	B;B	0.40864	0.342;0.164	T	0.51411	-0.8709	9	0.36615	T	0.2	-16.7558	19.4017	0.94632	0.0:0.0:1.0:0.0	.	195;195	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	L	195	.	ENSP00000307617:V195L	V	+	1	0	GGNBP2	31997670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.092000	0.94157	2.577000	0.86979	0.558000	0.71614	GTT	GGNBP2	-	NULL		0.393	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	G	NM_024835		34923557	1	no_errors	ENST00000304718	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34923557	G	C	34923557	3	2	153	1	0	0	0	0	1	0	0	0	6378	1029	36	4	601	4	GGNBP2	17	34923557	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5377435	34923557	46271653	1118	27092										
ERBB2	2064	genome.wustl.edu	37	chr17	37871593	37871593	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcagctccaagtgtttgaGactctggaagagatcacagg	13	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:37871593G>C	ENST00000269571.5	+	10	1362	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D	ERBB2_ENST00000406381.2_Missense_Mutation_p.E371D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E371D|ERBB2_ENST00000540042.1_Missense_Mutation_p.E371D|ERBB2_ENST00000578199.1_Missense_Mutation_p.E371D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E401D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E386D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E125D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E371D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	401					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AAGTGTTTGAGACTCTGGAAG	0.607		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													85	77	79					17																	37871593		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1203G>C	17.37:g.37871593G>C	ENSP00000269571:p.Glu401Asp		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E401D	ENST00000269571.5	37	c.1203	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103617	0.37145	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.95	1.68	0.24146	EGF receptor, L domain (1);	.	.	.	.	T	0.36026	0.0952	L	0.52126	1.63	0.33384	D	0.575268	B;B;B;B	0.33549	0.417;0.1;0.1;0.014	B;B;B;B	0.36418	0.224;0.043;0.026;0.04	T	0.45862	-0.9232	9	0.66056	D	0.02	.	6.8647	0.24086	0.2179:0.1271:0.655:0.0	.	125;371;386;401	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	D	371;386;125;401;371;371	ENSP00000385185:E371D;ENSP00000446466:E386D;ENSP00000404047:E125D;ENSP00000269571:E401D;ENSP00000443562:E371D;ENSP00000446382:E371D	ENSP00000269571:E401D	E	+	3	2	ERBB2	35125119	1.000000	0.71417	0.975000	0.42487	0.843000	0.47879	2.020000	0.41010	0.105000	0.17753	0.491000	0.48974	GAG	ERBB2	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37871593	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.984	C	C	37871593	G	C	37871593	3	2	153	1	0	0	0	0	1	0	0	0	5218	933	33	1	1241	1	ERBB2	17	37871593	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2948036	37871593	43323617	1119	27093										
C17orf37	84299	genome.wustl.edu	37	chr17	37886509	37886509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctccttcacagcactggccAgctccaggtaggtcgcctcg	11	16	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:37886509A>G	ENST00000394231.3	-	2	416	c.125T>C	c.(124-126)cTg>cCg	p.L42P	ERBB2_ENST00000584888.1_3'UTR|MIEN1_ENST00000474210.1_Intron|MIEN1_ENST00000577810.1_Missense_Mutation_p.L42P			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	42					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										AGCACTGGCCAGCTCCAGGTA	0.662											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26	29	28					17																	37886509		2202	4300	6502	SO:0001583	missense	84299			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"chromosome 17 open reading frame 37"	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.125T>C	17.37:g.37886509A>G	ENSP00000377778:p.Leu42Pro	874		Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.L42P	ENST00000394231.3	37	c.125	CCDS11344.1	17	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568831	0.65765	.	.	ENSG00000141741	ENST00000394231	T	0.52526	0.66	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	T	0.70745	0.3259	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76567	-0.2912	10	0.87932	D	0	-17.0176	13.6518	0.62314	1.0:0.0:0.0:0.0	.	42	Q9BRT3	MIEN1_HUMAN	P	42	ENSP00000377778:L42P	ENSP00000377778:L42P	L	-	2	0	C17orf37	35140035	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.215000	0.72206	2.069000	0.61940	0.402000	0.26972	CTG	MIEN1	-	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ		0.662	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3	A	NM_032339		37886509	-1	no_errors	ENST00000394231	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37886509	A	G	37886509	3	3	153	1	0	0	0	0	1	0	0	0	1858	188	7	5	234	5	C17orf37	17	37886509	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	14916	37886509	43308701	1120	27094										
KRT35	3886	genome.wustl.edu	37	chr17	39635695	39635695	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggtcaggtcatccaggatCctgcgcaggccgttgatgtc	14	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:39635695C>T	ENST00000393989.1	-	3	657	c.615G>A	c.(613-615)agG>agA	p.R205R	KRT35_ENST00000246639.2_Silent_p.R175R	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	205	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CATCCAGGATCCTGCGCAGGC	0.587																																																	0													105	97	100					17																	39635695		2203	4300	6503	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.615G>A	17.37:g.39635695C>T			O76012|Q92651	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R205	ENST00000393989.1	37	c.615	CCDS11394.2	17																																																																																			KRT35	-	pfam_F,prints_Keratin_I		0.587	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		C	NM_002280		39635695	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	silent	SNP	0.564	T	T	39635695	C	T	39635695	2	4	153	1	0	0	0	0	0	0	0	1	8492	854	30	1		1	KRT35	17	39635695	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1749186	39635695	41559515	1121	27095										
GAST	2520	genome.wustl.edu	37	chr17	39872094	39872094	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctatggatggatggacttCggccgccgcagtgctgagga	16	10	0	1	rs201414566		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:39872094C>T	ENST00000329402.3	+	3	343	c.276C>T	c.(274-276)ttC>ttT	p.F92F	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	92					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGATGGACTTCGGCCGCCGCA	0.567																																																	0													68	69	69					17																	39872094		2203	4300	6503	SO:0001819	synonymous_variant	2520				CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.276C>T	17.37:g.39872094C>T			P78463|P78464	Silent	SNP	pfam_Gastrin,smart_Gastrin	p.F92	ENST00000329402.3	37	c.276	CCDS11404.1	17																																																																																			GAST	-	pfam_Gastrin,smart_Gastrin		0.567	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAST	HGNC	protein_coding	OTTHUMT00000257409.1	C			39872094	1	no_errors	ENST00000329402	ensembl	human	known	70_37	silent	SNP	0.474	T	T	39872094	C	T	39872094	2	4	153	1	0	0	0	0	0	0	0	1	6271	883	31	1		1	GAST	17	39872094	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	236399	39872094	41323116	1122	27096										
HAP1	9001	genome.wustl.edu	37	chr17	39890702	39890702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagctccggtgcgggcttccGagaggaactgggatccagag	17	10	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:39890702G>A	ENST00000310778.5	-	1	194	c.185C>T	c.(184-186)tCg>tTg	p.S62L	HAP1_ENST00000347901.4_Missense_Mutation_p.S62L|HAP1_ENST00000341193.5_Missense_Mutation_p.S62L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.S62L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	62					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCGGGCTTCCGAGAGGAACTG	0.706																																																	0													21	21	21					17																	39890702		2197	4290	6487	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.185C>T	17.37:g.39890702G>A	ENSP00000309392:p.Ser62Leu		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.S62L	ENST00000310778.5	37	c.185		17	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898176	0.52227	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.06687	3.27;3.5;3.4;3.28	2.05	1.07	0.20283	.	.	.	.	.	T	0.07279	0.0184	N	0.24115	0.695	0.09310	N	1	B;B;D;D	0.60575	0.059;0.059;0.988;0.98	B;B;P;B	0.48270	0.011;0.011;0.572;0.368	T	0.31194	-0.9952	9	0.59425	D	0.04	.	4.5185	0.11947	0.1933:0.0:0.8067:0.0	.	62;62;62;62	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	62	ENSP00000377513:S62L;ENSP00000309392:S62L;ENSP00000334002:S62L;ENSP00000343170:S62L	ENSP00000309392:S62L	S	-	2	0	HAP1	37144228	0.020000	0.18652	0.001000	0.08648	0.003000	0.03518	1.585000	0.36600	0.427000	0.26145	0.467000	0.42956	TCG	HAP1	-	NULL		0.706	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	G	NM_003949		39890702	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	0.001	A	A	39890702	G	A	39890702	3	1	153	1	0	0	0	0	1	0	0	0	6973	1059	37	1	1742	1	HAP1	17	39890702	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	18608	39890702	41304508	1123	27097										
KLHL11	55175	genome.wustl.edu	37	chr17	40010275	40010275	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catcactgtttttccagcctCctataatgaagacatcatct	4	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40010275C>G	ENST00000319121.3	-	2	1904	c.1844G>C	c.(1843-1845)gGa>gCa	p.G615A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	615										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TTTCCAGCCTCCTATAATGAA	0.443																																																	0													92	89	90					17																	40010275		2203	4300	6503	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1844G>C	17.37:g.40010275C>G	ENSP00000314608:p.Gly615Ala			Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G615A	ENST00000319121.3	37	c.1844	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793760	0.70452	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	D	0.98732	-5.1	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99907	1.1183	10	0.56958	D	0.05	-1.603	19.5492	0.95311	0.0:1.0:0.0:0.0	.	615	Q9NVR0	KLH11_HUMAN	A	615;478	ENSP00000314608:G615A	ENSP00000314608:G615A	G	-	2	0	KLHL11	37263801	1.000000	0.71417	0.961000	0.40146	0.925000	0.55904	7.353000	0.79414	2.683000	0.91414	0.650000	0.86243	GGA	KLHL11	-	pfam_Kelch_1,smart_Kelch_1		0.443	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	HGNC	protein_coding	OTTHUMT00000257464.2	C	NM_018143		40010275	-1	no_errors	ENST00000319121	ensembl	human	known	70_37	missense	SNP	0.999	G	G	40010275	C	G	40010275	3	3	153	1	0	0	0	0	1	0	0	0	8387	855	30	1	286	1	KLHL11	17	40010275	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	119573	40010275	41184935	1124	27098										
TUBG1	7283	genome.wustl.edu	37	chr17	40766963	40766963	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcaaggacaactttgatgaGatggacacatccagggagat	11	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40766963G>C	ENST00000251413.3	+	11	1322	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	420					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTTTGATGAGATGGACACAT	0.562																																					Colon(20;114 698 11420 22864)												0													134	131	132					17																	40766963		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1260G>C	17.37:g.40766963G>C	ENSP00000251413:p.Glu420Asp		Q53X79|Q9BW59	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.E420D	ENST00000251413.3	37	c.1260	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074852	0.76415	.	.	ENSG00000131462	ENST00000251413	D	0.85629	-2.01	5.02	4.05	0.47172	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.93446	0.6798	10	0.87932	D	0	-16.1871	13.5258	0.61594	0.0755:0.0:0.9245:0.0	.	420	P23258	TBG1_HUMAN	D	420	ENSP00000251413:E420D	ENSP00000251413:E420D	E	+	3	2	TUBG1	38020489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.655000	0.54460	1.118000	0.41863	0.563000	0.77884	GAG	TUBG1	-	superfamily_Tub_FtsZ_C,prints_Gamma_tubulin		0.562	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	G	NM_001070		40766963	1	no_errors	ENST00000251413	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40766963	G	C	40766963	3	2	153	1	0	0	0	0	1	0	0	0	16795	933	33	1	1302	1	TUBG1	17	40766963	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	756688	40766963	40428247	1125	27099										
TUBG2	27175	genome.wustl.edu	37	chr17	40812669	40812669	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctatacagggtgagaaaattCatgaagacatctttgacatc	8	7	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40812669C>T	ENST00000251412.7	+	4	542	c.343C>T	c.(343-345)Cat>Tat	p.H115Y		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	115					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TGAGAAAATTCATGAAGACAT	0.483																																																	0													84	79	81					17																	40812669		2203	4300	6503	SO:0001583	missense	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.343C>T	17.37:g.40812669C>T	ENSP00000251412:p.His115Tyr		A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.H115Y	ENST00000251412.7	37	c.343	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201479	0.22121	.	.	ENSG00000037042	ENST00000251412	T	0.67865	-0.29	4.68	3.72	0.42706	Tubulin/FtsZ, GTPase domain (4);	0.118179	0.64402	N	0.000016	T	0.48295	0.1492	N	0.16266	0.395	0.54753	D	0.999981	B	0.10296	0.003	B	0.12156	0.007	T	0.36601	-0.9741	10	0.19590	T	0.45	-18.9042	13.0636	0.59020	0.0:0.9221:0.0:0.0779	.	115	Q9NRH3	TBG2_HUMAN	Y	115	ENSP00000251412:H115Y	ENSP00000251412:H115Y	H	+	1	0	TUBG2	38066195	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.736000	0.68597	1.340000	0.45581	0.561000	0.74099	CAT	TUBG2	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Beta_tubulin		0.483	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	C	NM_016437		40812669	1	no_errors	ENST00000251412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40812669	C	T	40812669	3	4	153	1	0	0	0	0	1	0	0	0	16796	826	29	1	357	1	TUBG2	17	40812669	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	45706	40812669	40382541	1126	27100										
BECN1	8678	genome.wustl.edu	37	chr17	40963707	40963707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaaacgtgtctcgcctttctCaacctcttctttgaactgct	5	13	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40963707C>G	ENST00000361523.4	-	11	1282	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	BECN1_ENST00000590099.1_Missense_Mutation_p.E384Q|BECN1_ENST00000438274.3_Intron	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	384					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCGCCTTTCTCAACCTCTTCT	0.458																																																	0													191	164	173					17																	40963707		2203	4300	6503	SO:0001583	missense	8678			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1150G>C	17.37:g.40963707C>G	ENSP00000355231:p.Glu384Gln		B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	pfam_Beclin_fam,superfamily_Translin	p.E384Q	ENST00000361523.4	37	c.1150	CCDS11441.1	17	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910275	0.92107	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.47177	0.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.57980	-0.7717	10	0.27082	T	0.32	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	384	Q14457	BECN1_HUMAN	Q	384;297	ENSP00000355231:E384Q	ENSP00000355231:E384Q	E	-	1	0	BECN1	38217233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAG	BECN1	-	pfam_Beclin_fam		0.458	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	HGNC	protein_coding	OTTHUMT00000452405.1	C	NM_003766		40963707	-1	no_errors	ENST00000361523	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40963707	C	G	40963707	3	3	153	1	0	0	0	0	1	0	0	0	1397	835	29	1	210	1	BECN1	17	40963707	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	151038	40963707	40231503	1127	27101										
PYY	5697	genome.wustl.edu	37	chr17	42030544	42030544	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaagcgtgtccgggccgtCtcttttcccatacctggggg	13	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:42030544C>G	ENST00000360085.2	-	6	742	c.202G>C	c.(202-204)Gac>Cac	p.D68H	PYY_ENST00000592796.1_Missense_Mutation_p.D68H	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	68					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCCGGGCCGTCTCTTTTCCCA	0.667																																																	0													41	46	44					17																	42030544		2196	4296	6492	SO:0001583	missense	5697				CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.202G>C	17.37:g.42030544C>G	ENSP00000353198:p.Asp68His		Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.D68H	ENST00000360085.2	37	c.202	CCDS32662.1	17	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202141	0.58234	.	.	ENSG00000131096	ENST00000360085	T	0.15834	2.39	3.91	2.93	0.34026	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	D	0.56746	0.977	P	0.46510	0.519	T	0.09378	-1.0677	8	0.59425	D	0.04	4.3625	7.2828	0.26320	0.0:0.8769:0.0:0.1231	.	68	P10082	PYY_HUMAN	H	68	ENSP00000353198:D68H	ENSP00000353198:D68H	D	-	1	0	PYY	39386070	0.001000	0.12720	0.007000	0.13788	0.221000	0.24807	0.411000	0.21115	0.841000	0.35020	0.561000	0.74099	GAC	PYY	-	NULL		0.667	PYY-001	KNOWN	basic|CCDS	protein_coding	PYY	HGNC	protein_coding	OTTHUMT00000457658.1	C	NM_004160		42030544	-1	no_errors	ENST00000360085	ensembl	human	known	70_37	missense	SNP	0.009	G	G	42030544	C	G	42030544	3	3	153	1	0	0	0	0	1	0	0	0	12898	913	32	1	99	1	PYY	17	42030544	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1066837	42030544	39164666	1128	27102										
FMNL1	752	genome.wustl.edu	37	chr17	43320550	43320550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaggccccagcctggacctCagcgctctcaagagtaaggc	11	15	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:43320550C>T	ENST00000331495.3	+	17	2412	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Silent_p.L692L|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Silent_p.L270L	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	692	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCTGGACCTCAGCGCTCTCA	0.597																																					GBM(164;1247 1997 8702 11086 51972)												0													89	95	93					17																	43320550		2203	4300	6503	SO:0001819	synonymous_variant	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2076C>T	17.37:g.43320550C>T			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L692	ENST00000331495.3	37	c.2076	CCDS11497.1	17																																																																																			FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.597	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43320550	1	no_errors	ENST00000328118	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43320550	C	T	43320550	2	4	153	1	0	0	0	0	0	0	0	1	5969	813	29	1		1	FMNL1	17	43320550	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1290006	43320550	37874660	1129	27103										
PLEKHM1	9842	genome.wustl.edu	37	chr17	43552613	43552613	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggctgcaggacagctgggatGaactggccgtgtccaggctg	17	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:43552613G>A	ENST00000430334.3	-	4	909	c.776C>T	c.(775-777)tCa>tTa	p.S259L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S170L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	259					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAGCTGGGATGAACTGGCCGT	0.547																																																	0													46	44	45					17																	43552613		2203	4300	6503	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.776C>T	17.37:g.43552613G>A	ENSP00000389913:p.Ser259Leu		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S259L	ENST00000430334.3	37	c.776	CCDS32671.1	17	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790848	0.50102	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.74842	-0.84;-0.88	5.03	5.03	0.67393	.	0.071477	0.64402	D	0.000020	D	0.85487	0.5708	M	0.70275	2.135	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.976;0.997	D	0.86654	0.1900	10	0.66056	D	0.02	.	17.1001	0.86647	0.0:0.0:1.0:0.0	.	170;259	F8W648;Q9Y4G2	.;PKHM1_HUMAN	L	259;208;170	ENSP00000389913:S259L;ENSP00000414352:S170L	ENSP00000414352:S170L	S	-	2	0	PLEKHM1	40908396	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.906000	0.63293	2.608000	0.88229	0.655000	0.94253	TCA	PLEKHM1	-	NULL		0.547	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	G	NM_014798		43552613	-1	no_errors	ENST00000430334	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43552613	G	A	43552613	3	1	153	1	0	0	0	0	1	0	0	0	12104	1294	45	1	2430	1	PLEKHM1	17	43552613	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	232063	43552613	37642597	1130	27104										
CRHR1	1394	genome.wustl.edu	37	chr17	43908278	43908278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccatcattgtggcctgggccAttgggaagctgtactacgac	12	11	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:43908278A>G	ENST00000398285.3	+	9	829	c.829A>G	c.(829-831)Att>Gtt	p.I277V	CRHR1_ENST00000293493.7_Missense_Mutation_p.I73V|CRHR1_ENST00000339069.5_Missense_Mutation_p.I147V|CRHR1_ENST00000314537.5_Missense_Mutation_p.I248V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I208V|CRHR1_ENST00000577353.1_Missense_Mutation_p.I248V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	277					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCCTGGGCCATTGGGAAGCT	0.602																																					Ovarian(110;57 1568 10207 38216 49865)												0													66	70	68					17																	43908278		2002	4154	6156	SO:0001583	missense	1394			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.829A>G	17.37:g.43908278A>G	ENSP00000381333:p.Ile277Val		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.I277V	ENST00000398285.3	37	c.829	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775743	0.31411	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.44482	1.23;0.92;1.23;1.23;1.23	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.049702	0.85682	D	0.000000	T	0.20373	0.0490	N	0.02865	-0.47	0.58432	D	0.999999	B;B;B;B;B;B	0.15930	0.004;0.008;0.0;0.015;0.004;0.004	B;B;B;B;B;B	0.22601	0.012;0.029;0.012;0.04;0.012;0.012	T	0.09465	-1.0673	10	0.21540	T	0.41	.	12.4542	0.55695	1.0:0.0:0.0:0.0	.	248;277;147;147;208;248	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	73;147;277;248;248;208	ENSP00000293493:I73V;ENSP00000340522:I147V;ENSP00000381333:I277V;ENSP00000326060:I248V;ENSP00000344068:I208V	ENSP00000293493:I73V	I	+	1	0	CRHR1	41264059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.637000	0.46553	2.037000	0.60232	0.459000	0.35465	ATT	CRHR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.602	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	A			43908278	1	no_errors	ENST00000398285	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43908278	A	G	43908278	3	3	153	1	0	0	0	0	1	0	0	0	3876	217	8	5	863	5	CRHR1	17	43908278	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	355665	43908278	37286932	1131	27105										
LRRC37A	9884	genome.wustl.edu	37	chr17	44380067	44380067	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgaaggcctgctatccctCcagtatttgtaagttagtta	8	8	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:44380067C>T	ENST00000320254.5	+	3	2748	c.2745C>T	c.(2743-2745)ctC>ctT	p.L915L	LRRC37A_ENST00000496930.1_5'UTR|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000393465.3_Silent_p.L915L|ARL17B_ENST00000570618.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	915						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TGCTATCCCTCCAGTATTTgt	0.289																																																	0													1	1	1					17																	44380067		609	593	1202	SO:0001819	synonymous_variant	9884			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.2745C>T	17.37:g.44380067C>T			Q68DY2|Q8IWC7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L915	ENST00000320254.5	37	c.2745	CCDS11504.2	17																																																																																			LRRC37A	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.289	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	C	NM_014834		44380067	1	no_errors	ENST00000320254	ensembl	human	known	70_37	silent	SNP	0.715	T	T	44380067	C	T	44380067	2	4	153	1	0	0	0	0	0	0	0	1	9014	842	30	1		1	LRRC37A	17	44380067	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	471789	44380067	36815143	1132	27106										
TTLL6	284076	genome.wustl.edu	37	chr17	46867437	46867437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcacctctttatccaaccgaGagtcggtggagaagcttgga	11	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:46867437G>C	ENST00000393382.3	-	10	1397	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	TTLL6_ENST00000433608.2_Missense_Mutation_p.S112C	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCAACCGAGAGTCGGTGGA	0.512																																																	0													101	94	96					17																	46867437		2203	4300	6503	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1256C>G	17.37:g.46867437G>C	ENSP00000377043:p.Ser419Cys			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S419C	ENST00000393382.3	37	c.1256	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583918	0.86748	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	5.63	0.86233	ATP-grasp fold, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.78761	0.4334	M	0.69248	2.105	0.53005	D	0.999967	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.976;0.992;0.983	T	0.79685	-0.1700	9	0.87932	D	0	.	18.8174	0.92081	0.0:0.0:1.0:0.0	.	371;172;112	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	C	419;112;97;371	.	ENSP00000302547:S112C	S	-	2	0	TTLL6	44222436	1.000000	0.71417	0.990000	0.47175	0.883000	0.51084	9.476000	0.97823	2.815000	0.96918	0.561000	0.74099	TCT	TTLL6	-	pfam_Tub_tyr_ligase		0.512	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	G	NM_173623		46867437	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46867437	G	C	46867437	3	2	153	1	0	0	0	0	1	0	0	0	16762	942	33	1	1443	1	TTLL6	17	46867437	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2487370	46867437	34327773	1133	27107										
PHB	5245	genome.wustl.edu	37	chr17	47486448	47486448	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccaaaggtggcggctcgctCtgtaaggtcgtcgctcacct	12	14	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:47486448C>T	ENST00000300408.3	-	5	538	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PHB_ENST00000511832.1_Intron|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000508009.1_5'UTR	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	156					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GCGGCTCGCTCTGTAAGGTCG	0.582																																																	0													66	62	64					17																	47486448		2203	4300	6503	SO:0001583	missense	5245				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.466G>A	17.37:g.47486448C>T	ENSP00000300408:p.Glu156Lys		B4DY47|Q4VBQ0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.E156K	ENST00000300408.3	37	c.466	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641101	0.47153	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	L	0.56124	1.755	0.80722	D	1	P	0.35307	0.494	B	0.39935	0.314	D	0.91615	0.5306	10	0.20519	T	0.43	.	18.3101	0.90195	0.0:1.0:0.0:0.0	.	156	P35232	PHB_HUMAN	K	156	ENSP00000300408:E156K;ENSP00000393320:E156K;ENSP00000426433:E156K;ENSP00000422182:E156K;ENSP00000407828:E156K	ENSP00000300408:E156K	E	-	1	0	PHB	44841447	1.000000	0.71417	0.899000	0.35326	0.129000	0.20672	7.691000	0.84191	2.428000	0.82296	0.462000	0.41574	GAG	PHB	-	pfam_Band_7,smart_Band_7		0.582	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	C	NM_002634		47486448	-1	no_errors	ENST00000300408	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47486448	C	T	47486448	3	4	153	1	0	0	0	0	1	0	0	0	11838	922	32	1	364	1	PHB	17	47486448	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	619011	47486448	33708762	1134	27108										
ITGA3	3675	genome.wustl.edu	37	chr17	48156607	48156607	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagaccttatcaaccctctCaacctcactctttctgtaag	5	14	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48156607C>G	ENST00000320031.8	+	20	2898	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L	ITGA3_ENST00000007722.7_Silent_p.L856L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	856					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCAACCCTCTCAACCTCACTC	0.537																																																	0													149	139	143					17																	48156607		2203	4300	6503	SO:0001819	synonymous_variant	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2568C>G	17.37:g.48156607C>G			A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L856	ENST00000320031.8	37	c.2568	CCDS11558.1	17																																																																																			ITGA3	-	pfam_Integrin_alpha-2		0.537	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	C	NM_005501		48156607	1	no_errors	ENST00000320031	ensembl	human	known	70_37	silent	SNP	0.998	G	G	48156607	C	G	48156607	2	3	153	1	0	0	0	0	0	0	0	1	7897	813	29	1		1	ITGA3	17	48156607	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	670159	48156607	33038603	1135	27109										
PPP1R9B	84687	genome.wustl.edu	37	chr17	48222543	48222543	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctccagctcgtactcagcaGaggctgccatgggatccaca	10	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48222543G>C	ENST00000316878.6	-	4	1435	c.1433C>G	c.(1432-1434)tCt>tGt	p.S478C	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	478	Interacts with RGS2. {ECO:0000250}.|Interacts with protein phosphatase 1. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GTACTCAGCAGAGGCTGCCAT	0.607																																																	0													99	108	105					17																	48222543		2180	4286	6466	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1433C>G	17.37:g.48222543G>C	ENSP00000475417:p.Ser478Cys		Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-		0.607	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		G	NM_032595		48222543	-1	no_errors	ENST00000316878	ensembl	human	known	70_37	rna	SNP	1.000	C	C	48222543	G	C	48222543	3	2	153	1	0	0	0	0	1	0	0	0	12406	942	33	1	1050	1	PPP1R9B	17	48222543	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	65936	48222543	32972667	1136	27110										
COL1A1	1277	genome.wustl.edu	37	chr17	48262976	48262976	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtcttggtggttttgtattCaatcactgtcttgccccagg	11	9	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48262976C>G	ENST00000225964.5	-	51	4400	c.4282G>C	c.(4282-4284)Gaa>Caa	p.E1428Q		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1428	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GTTTTGTATTCAATCACTGTC	0.607			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0													110	91	97					17																	48262976		2203	4300	6503	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4282G>C	17.37:g.48262976C>G	ENSP00000225964:p.Glu1428Gln		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1428Q	ENST00000225964.5	37	c.4282	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336532	0.41398	.	.	ENSG00000108821	ENST00000225964	T	0.76709	-1.04	4.49	2.42	0.29668	Fibrillar collagen, C-terminal (4);	0.065641	0.64402	D	0.000015	T	0.76535	0.4001	M	0.83603	2.65	0.37558	D	0.918966	B	0.14805	0.011	B	0.12837	0.008	T	0.74858	-0.3521	10	0.72032	D	0.01	.	8.946	0.35758	0.0:0.7644:0.1498:0.0858	.	1428	P02452	CO1A1_HUMAN	Q	1428	ENSP00000225964:E1428Q	ENSP00000225964:E1428Q	E	-	1	0	COL1A1	45617975	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.857000	0.69525	0.487000	0.27698	0.313000	0.20887	GAA	COL1A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.607	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	C			48262976	-1	no_errors	ENST00000225964	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48262976	C	G	48262976	3	3	153	1	0	0	0	0	1	0	0	0	3682	835	29	1	116	1	COL1A1	17	48262976	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	40433	48262976	32932234	1137	27111										
EPN3	55040	genome.wustl.edu	37	chr17	48618394	48618394	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactggggctgacccttgggGagcctccctggagacctccg	14	15	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48618394G>C	ENST00000268933.3	+	7	1799	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.G435A|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	407						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GACCCTTGGGGAGCCTCCCTG	0.662																																																	0													25	30	28					17																	48618394		2169	4275	6444	SO:0001583	missense	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1220G>C	17.37:g.48618394G>C	ENSP00000268933:p.Gly407Ala		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.G435A	ENST00000268933.3	37	c.1304	CCDS11570.1	17	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844680	0.32606	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.75154	-0.91;-0.91	5.17	5.17	0.71159	.	0.514704	0.21451	N	0.074337	T	0.65760	0.2722	L	0.49350	1.555	0.80722	D	1	B;B;B	0.31599	0.33;0.28;0.044	B;B;B	0.28465	0.057;0.09;0.062	T	0.61451	-0.7060	10	0.17832	T	0.49	-19.361	12.4731	0.55797	0.0:0.2214:0.7786:0.0	.	435;435;407	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	A	407;435;435	ENSP00000268933:G407A;ENSP00000439512:G435A	ENSP00000268933:G407A	G	+	2	0	EPN3	45973393	0.971000	0.33674	0.953000	0.39169	0.584000	0.36387	2.185000	0.42584	2.409000	0.81822	0.561000	0.74099	GGA	EPN3	-	NULL		0.662	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1	G	NM_017957		48618394	1	no_errors	ENST00000537145	ensembl	human	known	70_37	missense	SNP	0.934	C	C	48618394	G	C	48618394	3	2	153	1	0	0	0	0	1	0	0	0	5199	1174	41	1	1242	1	EPN3	17	48618394	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	355418	48618394	32576816	1138	27112										
TOM1L1	10040	genome.wustl.edu	37	chr17	53007533	53007533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgagctaattcaggtgaatGaggatttgaataatgctatc	10	4	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:53007533G>A	ENST00000575882.1	+	8	1173	c.820G>A	c.(820-822)Gag>Aag	p.E274K	TOM1L1_ENST00000445275.2_Missense_Mutation_p.E274K|TOM1L1_ENST00000348161.4_Missense_Mutation_p.E197K|TOM1L1_ENST00000570371.1_Missense_Mutation_p.E274K|TOM1L1_ENST00000572158.1_Missense_Mutation_p.E267K|TOM1L1_ENST00000540336.1_Missense_Mutation_p.E162K|TOM1L1_ENST00000536554.1_Missense_Mutation_p.E197K|TOM1L1_ENST00000575333.1_Missense_Mutation_p.E274K	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	274	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCAGGTGAATGAGGATTTGAA	0.438																																																	0													269	223	238					17																	53007533		2203	4300	6503	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.820G>A	17.37:g.53007533G>A	ENSP00000460823:p.Glu274Lys		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.E274K	ENST00000575882.1	37	c.820	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772973	0.90108	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.07	5.07	0.68467	GAT (2);	0.076216	0.53938	D	0.000048	T	0.61974	0.2390	L	0.47716	1.5	0.46260	D	0.998955	D;D;D;D;D	0.71674	0.992;0.998;0.994;0.998;0.996	P;D;D;D;D	0.70487	0.893;0.969;0.943;0.969;0.926	T	0.64253	-0.6451	10	0.87932	D	0	-16.8717	15.9954	0.80234	0.0:0.0:1.0:0.0	.	162;267;197;274;274	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	K	274;162;197;197	ENSP00000408958:E274K;ENSP00000441242:E162K;ENSP00000343901:E197K;ENSP00000443099:E197K	ENSP00000343901:E197K	E	+	1	0	TOM1L1	50362532	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.158000	0.71851	2.622000	0.88805	0.563000	0.77884	GAG	TOM1L1	-	pfam_GAT,pirsf_TOM1,pfscan_GAT		0.438	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	G	NM_005486		53007533	1	no_errors	ENST00000575882	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53007533	G	A	53007533	3	1	153	1	0	0	0	0	1	0	0	0	16382	1291	45	1	850	1	TOM1L1	17	53007533	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4389139	53007533	28187677	1139	27113										
ANKFN1	162282	genome.wustl.edu	37	chr17	54431374	54431374	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgtgcccattgcaaggattCttctgaggacaggggcccga	13	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:54431374C>G	ENST00000318698.2	+	5	612	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	ANKFN1_ENST00000566473.2_Missense_Mutation_p.L193V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	193										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCAAGGATTCTTCTGAGGAC	0.468																																																	0													115	93	100					17																	54431374		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.577C>G	17.37:g.54431374C>G	ENSP00000321627:p.Leu193Val			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.L193V	ENST00000318698.2	37	c.577	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356898	0.82243	.	.	ENSG00000153930	ENST00000318698	D	0.86030	-2.06	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.87971	2.92	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.94506	0.7714	10	0.87932	D	0	-9.8283	18.7787	0.91922	0.0:1.0:0.0:0.0	.	193	Q8N957	ANKF1_HUMAN	V	193	ENSP00000321627:L193V	ENSP00000321627:L193V	L	+	1	0	ANKFN1	51786373	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.974000	0.70465	2.426000	0.82243	0.655000	0.94253	CTT	ANKFN1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.468	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	C	NM_153228		54431374	1	no_errors	ENST00000318698	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54431374	C	G	54431374	3	3	153	1	0	0	0	0	1	0	0	0	625	913	32	1	595	1	ANKFN1	17	54431374	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1423841	54431374	26763836	1140	27114										
OR4D2	124538	genome.wustl.edu	37	chr17	56247563	56247563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttctactgtgatgttcccCaagtactgagacttgcctgc	8	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:56247563C>G	ENST00000545221.1	+	1	547	c.547C>G	c.(547-549)Caa>Gaa	p.Q183E		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGATGTTCCCCAAGTACTGAG	0.532																																																	0													171	149	156					17																	56247563		2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.547C>G	17.37:g.56247563C>G	ENSP00000441354:p.Gln183Glu		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q183E	ENST00000545221.1	37	c.547	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099869	0.56183	.	.	ENSG00000255713	ENST00000545221	T	0.00152	8.66	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.00468	0.0015	M	0.72118	2.19	0.31187	N	0.701367	D	0.71674	0.998	D	0.85130	0.997	T	0.63919	-0.6528	10	0.54805	T	0.06	-8.5017	17.7075	0.88312	0.0:1.0:0.0:0.0	.	183	P58180	OR4D2_HUMAN	E	183	ENSP00000441354:Q183E	ENSP00000441354:Q183E	Q	+	1	0	OR4D2	53602562	0.003000	0.15002	0.988000	0.46212	0.806000	0.45545	1.723000	0.38053	2.860000	0.98153	0.609000	0.83330	CAA	OR4D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.532	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	HGNC	protein_coding	OTTHUMT00000443366.1	C			56247563	1	no_errors	ENST00000545221	ensembl	human	known	70_37	missense	SNP	0.957	G	G	56247563	C	G	56247563	3	3	153	1	0	0	0	0	1	0	0	0	11080	595	21	4	549	4	OR4D2	17	56247563	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1816189	56247563	24947647	1141	27115										
MKS1	54903	genome.wustl.edu	37	chr17	56283702	56283702	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccagacggtccaacacactCcgcatccttttctgaaggga	8	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:56283702C>G	ENST00000393119.2	-	17	1604	c.1530G>C	c.(1528-1530)cgG>cgC	p.R510R	MKS1_ENST00000537529.2_Silent_p.R500R|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000546108.1_Silent_p.R307R|MKS1_ENST00000313863.6_Missense_Mutation_p.G438A	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	510					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACACACTCCGCATCCTTT	0.602																																																	0													119	124	123					17																	56283702		2030	4178	6208	SO:0001819	synonymous_variant	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1530G>C	17.37:g.56283702C>G			B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.G438A	ENST00000393119.2	37	c.1313	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211393	0.22289	.	.	ENSG00000011143	ENST00000313863	.	.	.	4.94	2.91	0.33838	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45308	-0.9270	4	.	.	.	-23.2735	5.2629	0.15584	0.1649:0.6659:0.0:0.1692	.	.	.	.	Q	439	.	.	E	-	1	0	MKS1	53638701	1.000000	0.71417	0.988000	0.46212	0.547000	0.35210	3.314000	0.51943	0.643000	0.30638	0.555000	0.69702	GAG	MKS1	-	NULL		0.602	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	C	NM_017777		56283702	-1	no_errors	ENST00000313863	ensembl	human	putative	70_37	missense	SNP	1.000	G	G	56283702	C	G	56283702	2	3	153	1	0	0	0	0	0	0	0	1	9632	842	30	1		1	MKS1	17	56283702	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	36139	56283702	24911508	1142	27116										
PRR11	55771	genome.wustl.edu	37	chr17	57270858	57270858	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgtcttcttccagaccatCtcagaaagttcttcctgtcc	6	13	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:57270858C>T	ENST00000262293.4	+	5	720	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	136						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAGACCATCTCAGAAAGTT	0.408																																																	0													123	108	113					17																	57270858		2203	4300	6503	SO:0001819	synonymous_variant	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.408C>T	17.37:g.57270858C>T			Q9NUZ7|Q9NXE9	Silent	SNP	NULL	p.I136	ENST00000262293.4	37	c.408	CCDS11614.1	17																																																																																			PRR11	-	NULL		0.408	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR11	HGNC	protein_coding	OTTHUMT00000445949.1	C	NM_018304		57270858	1	no_errors	ENST00000262293	ensembl	human	known	70_37	silent	SNP	0.700	T	T	57270858	C	T	57270858	2	4	153	1	0	0	0	0	0	0	0	1	12610	903	32	1		1	PRR11	17	57270858	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	987156	57270858	23924352	1143	27117										
TUBD1	51174	genome.wustl.edu	37	chr17	57941116	57941116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaccaacactgcagacttctCatatttgctaaaggcccgct	7	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:57941116C>G	ENST00000592426.1	-	7	1168	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	TUBD1_ENST00000340993.6_Missense_Mutation_p.E335Q|TUBD1_ENST00000376094.4_Missense_Mutation_p.E288Q|TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000346141.6_Missense_Mutation_p.E136Q|TUBD1_ENST00000325752.3_Missense_Mutation_p.E390Q|TUBD1_ENST00000539018.1_Missense_Mutation_p.E174Q			Q9UJT1	TBD_HUMAN	tubulin, delta 1	390					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GCAGACTTCTCATATTTGCTA	0.413																																																	0													87	86	86					17																	57941116		2203	4300	6503	SO:0001583	missense	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1168G>C	17.37:g.57941116C>G	ENSP00000468518:p.Glu390Gln		B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.E390Q	ENST00000592426.1	37	c.1168	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	c	20.5	3.998369	0.74818	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000376094;ENST00000539018	T;T;T;T	0.80994	-1.13;-0.82;-1.44;-0.95	5.59	5.59	0.84812	Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	M	0.85542	2.76	0.58432	D	0.999999	D;D;P;D;P	0.89917	1.0;0.999;0.888;0.999;0.955	D;D;B;D;P	0.85130	0.997;0.961;0.363;0.983;0.786	D	0.91827	0.5472	10	0.87932	D	0	-19.3872	20.0232	0.97510	0.0:1.0:0.0:0.0	.	136;335;288;335;390	Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	Q	390;335;136;288;174	ENSP00000320797:E390Q;ENSP00000342399:E335Q;ENSP00000342561:E136Q;ENSP00000365262:E288Q	ENSP00000320797:E390Q	E	-	1	0	TUBD1	55295898	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.197000	0.77814	2.808000	0.96608	0.549000	0.68633	GAG	TUBD1	-	superfamily_Tub_FtsZ_C,prints_Delta_tubulin		0.413	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	C	NM_016261		57941116	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57941116	C	G	57941116	3	3	153	1	0	0	0	0	1	0	0	0	16793	835	29	1	201	1	TUBD1	17	57941116	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	670258	57941116	23254094	1144	27118										
USP32	84669	genome.wustl.edu	37	chr17	58288768	58288768	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataaagatgtctccctgagaTaaaatactgtgtcagtggct	9	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:58288768T>A	ENST00000300896.4	-	20	2481	c.2287A>T	c.(2287-2289)Atc>Ttc	p.I763F	USP32_ENST00000592339.1_Missense_Mutation_p.I433F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	763	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTCCCTGAGATAAAATACTGT	0.413																																																	0													99	96	97					17																	58288768		2202	4296	6498	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2287A>T	17.37:g.58288768T>A	ENSP00000300896:p.Ile763Phe		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.I763F	ENST00000300896.4	37	c.2287	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360280	0.41801	.	.	ENSG00000170832	ENST00000300896	T	0.29655	1.56	5.48	4.41	0.53225	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.098441	0.64402	D	0.000002	T	0.26231	0.0640	L	0.33245	0.995	0.80722	D	1	B	0.25441	0.126	B	0.32393	0.145	T	0.04621	-1.0938	10	0.41790	T	0.15	.	11.4727	0.50280	0.0:0.0707:0.0:0.9292	.	763	Q8NFA0	UBP32_HUMAN	F	763	ENSP00000300896:I763F	ENSP00000300896:I763F	I	-	1	0	USP32	55643550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.932000	0.56537	1.025000	0.39708	0.533000	0.62120	ATC	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	T	NM_032582		58288768	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58288768	T	A	58288768	3	1	153	1	0	0	0	0	1	0	0	0	17094	1406	49	5	2587	5	USP32	17	58288768	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	347652	58288768	22906442	1145	27119										
TANC2	26115	genome.wustl.edu	37	chr17	61432197	61432197	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttttggatcgactagaagaGaatgaagccatagaccagga	11	6	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:61432197G>C	ENST00000424789.2	+	12	1810	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D	TANC2_ENST00000389520.4_Missense_Mutation_p.E602D	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	602					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GACTAGAAGAGAATGAAGCCA	0.433																																																	0													112	107	109					17																	61432197		1902	4122	6024	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1806G>C	17.37:g.61432197G>C	ENSP00000387593:p.Glu602Asp		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E602D	ENST00000424789.2	37	c.1806	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374686	0.24857	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66280	-0.2;-0.2	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.21583	0.68	0.48901	D	0.999724	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.005	T	0.34378	-0.9831	10	0.02654	T	1	.	13.3273	0.60467	0.0717:0.0:0.9283:0.0	.	602;602	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	D	602	ENSP00000374171:E602D;ENSP00000387593:E602D	ENSP00000374171:E602D	E	+	3	2	TANC2	58785929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.427000	0.44740	2.769000	0.95229	0.655000	0.94253	GAG	TANC2	-	NULL		0.433	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61432197	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61432197	G	C	61432197	3	2	153	1	0	0	0	0	1	0	0	0	15575	933	33	1	1852	1	TANC2	17	61432197	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3143429	61432197	19763013	1146	27120										
POLG2	11232	genome.wustl.edu	37	chr17	62474003	62474003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttaatttggatatatgcatCatttccttcattgtggtgtc	7	6	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:62474003C>G	ENST00000539111.2	-	8	1462	c.1395G>C	c.(1393-1395)atG>atC	p.M465I	POLG2_ENST00000582501.1_5'Flank	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	465					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATATATGCATCATTTCCTTCA	0.284																																					Colon(3;18 21 435 17652 48887)												0													96	87	90					17																	62474003		2202	4298	6500	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1395G>C	17.37:g.62474003C>G	ENSP00000442563:p.Met465Ile		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.M465I	ENST00000539111.2	37	c.1395	CCDS32706.1	17	.	.	.	.	.	.	.	.	.	.	C	6.424	0.446350	0.12223	.	.	ENSG00000256525	ENST00000539111	D	0.82255	-1.59	5.76	4.78	0.61160	Anticodon-binding (3);	0.105286	0.64402	D	0.000006	T	0.78547	0.4300	L	0.51422	1.61	0.35137	D	0.768534	B	0.21520	0.057	B	0.24974	0.057	T	0.81185	-0.1048	10	0.87932	D	0	-18.9194	10.6338	0.45551	0.0:0.7993:0.1307:0.07	.	465	Q9UHN1	DPOG2_HUMAN	I	465	ENSP00000442563:M465I	ENSP00000442563:M465I	M	-	3	0	POLG2	59904465	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.386000	0.34419	2.741000	0.93983	0.454000	0.30748	ATG	POLG2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd		0.284	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	C	NM_007215		62474003	-1	no_errors	ENST00000539111	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62474003	C	G	62474003	3	3	153	1	0	0	0	0	1	0	0	0	12225	826	29	1	66	1	POLG2	17	62474003	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1041806	62474003	18721207	1147	27121										
CCDC45	90799	genome.wustl.edu	37	chr17	62506320	62506320	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttattcctaggagtcaagaaGatgatgcacacaatgtacaa	8	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:62506320G>C	ENST00000556440.2	+	3	688	c.178G>C	c.(178-180)Gat>Cat	p.D60H	CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Missense_Mutation_p.D60H	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	60						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAGTCAAGAAGATGATGCACA	0.403																																																	0													111	101	104					17																	62506320		1908	4160	6068	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.178G>C	17.37:g.62506320G>C	ENSP00000450461:p.Asp60His		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.D60H	ENST00000556440.2	37	c.178	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751917	0.49362	.	.	ENSG00000258890	ENST00000553956;ENST00000556440	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	.	0.096084	0.64402	D	0.000001	T	0.58864	0.2152	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.61242	-0.7102	10	0.72032	D	0.01	-20.165	13.2273	0.59922	0.0725:0.0:0.9275:0.0	.	60	Q96GE4	CEP95_HUMAN	H	60	ENSP00000452317:D60H;ENSP00000450461:D60H	ENSP00000438458:D60H	D	+	1	0	CEP95	59936782	1.000000	0.71417	0.902000	0.35471	0.001000	0.01503	5.621000	0.67743	2.744000	0.94065	0.561000	0.74099	GAT	CEP95	-	superfamily_CH-domain		0.403	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62506320	1	no_errors	ENST00000556440	ensembl	human	known	70_37	missense	SNP	0.995	C	C	62506320	G	C	62506320	3	2	153	1	0	0	0	0	1	0	0	0	2821	942	33	1	188	1	CCDC45	17	62506320	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	32317	62506320	18688890	1148	27122										
PITPNC1	26207	genome.wustl.edu	37	chr17	65671646	65671646	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacaggcttttgcatgggttGatgagtggtatggtaagtca	15	4	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:65671646G>A	ENST00000581322.1	+	8	670	c.670G>A	c.(670-672)Gat>Aat	p.D224N	PITPNC1_ENST00000335257.6_Missense_Mutation_p.D224N|PITPNC1_ENST00000299954.9_Missense_Mutation_p.D224N|PITPNC1_ENST00000580974.1_Missense_Mutation_p.D224N			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	224					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCATGGGTTGATGAGTGGTA	0.398																																																	0													199	186	190					17																	65671646		1914	4121	6035	SO:0001583	missense	26207			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.670G>A	17.37:g.65671646G>A	ENSP00000464006:p.Asp224Asn		A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.D224N	ENST00000581322.1	37	c.670	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674851	0.67928	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.61627	0.09;0.09	5.77	5.77	0.91146	START-like domain (1);	0.041588	0.85682	D	0.000000	D	0.84370	0.5457	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88329	0.2967	10	0.87932	D	0	-3.6583	19.9933	0.97376	0.0:0.0:1.0:0.0	.	224;224	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	N	224	ENSP00000335618:D224N;ENSP00000299954:D224N	ENSP00000299954:D224N	D	+	1	0	PITPNC1	63102108	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.710000	0.98732	2.744000	0.94065	0.542000	0.68232	GAT	PITPNC1	-	pfam_PI_transfer,prints_PI_transfer		0.398	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1	G	NM_012417		65671646	1	no_errors	ENST00000335257	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65671646	G	A	65671646	3	1	153	1	0	0	0	0	1	0	0	0	11973	1290	45	1	700	1	PITPNC1	17	65671646	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3165326	65671646	15523564	1149	27123										
SLC16A5	9121	genome.wustl.edu	37	chr17	73094242	73094242	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctccttctctcacaacctCagccagctctacttcacagc	4	18	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:73094242C>T	ENST00000450736.2	+	3	724	c.309C>T	c.(307-309)ctC>ctT	p.L103L	SLC16A5_ENST00000580123.1_Silent_p.L103L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L103L|SLC16A5_ENST00000538213.2_Silent_p.L143L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	103					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTCACAACCTCAGCCAGCTCT	0.577																																																	0													117	118	118					17																	73094242		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.309C>T	17.37:g.73094242C>T			B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.L103	ENST00000450736.2	37	c.309	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.577	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73094242	1	no_errors	ENST00000329783	ensembl	human	known	70_37	silent	SNP	0.604	T	T	73094242	C	T	73094242	2	4	153	1	0	0	0	0	0	0	0	1	14441	813	29	1		1	SLC16A5	17	73094242	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7422596	73094242	8100968	1150	27124										
CASKIN2	57513	genome.wustl.edu	37	chr17	73498414	73498414	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggtgggccagggggctctGaggggccagcaggttcactc	18	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:73498414G>C	ENST00000321617.3	-	18	3327	c.2741C>G	c.(2740-2742)tCa>tGa	p.S914*	CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.S832*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	914	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGGGCTCTGAGGGGCCAGC	0.726																																																	0													3	4	4					17																	73498414		1890	3817	5707	SO:0001587	stop_gained	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2741C>G	17.37:g.73498414G>C	ENSP00000325355:p.Ser914*		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.S914*	ENST00000321617.3	37	c.2741	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.632017	0.98892	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	.	.	.	5.0	2.88	0.33553	.	0.192333	0.25729	N	0.028700	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	6.1407	0.20259	0.1717:0.2859:0.5424:0.0	.	.	.	.	X	914;832	.	ENSP00000325355:S914X	S	-	2	0	CASKIN2	71010009	0.000000	0.05858	0.003000	0.11579	0.292000	0.27327	-0.138000	0.10374	0.619000	0.30197	0.591000	0.81541	TCA	CASKIN2	-	NULL		0.726	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	G	NM_020753		73498414	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	73498414	G	C	73498414	4	2	153	1	0	0	0	0	0	1	0	0	2672	1294	45	1	879	1	CASKIN2	17	73498414	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	404172	73498414	7696796	1151	27125										
SRP68	6730	genome.wustl.edu	37	chr17	74053615	74053615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgtttggctcgagtctgagTgatcaaagcctgaaaaatag	11	7	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:74053615T>C	ENST00000307877.2	-	8	1008	c.847A>G	c.(847-849)Act>Gct	p.T283A	SRP68_ENST00000355113.5_Missense_Mutation_p.T182A|SRP68_ENST00000539137.1_Missense_Mutation_p.T245A	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	283					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CGAGTCTGAGTGATCAAAGCC	0.403																																																	0													122	100	107					17																	74053615		2203	4300	6503	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.847A>G	17.37:g.74053615T>C	ENSP00000312066:p.Thr283Ala		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.T283A	ENST00000307877.2	37	c.847	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	T	4.785	0.146030	0.09134	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	.	.	.	5.47	3.0	0.34707	.	0.089742	0.85682	D	0.000000	T	0.22437	0.0541	N	0.02775	-0.495	0.54753	D	0.999986	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.002	T	0.21042	-1.0257	9	0.02654	T	1	-14.7055	10.6992	0.45918	0.2697:0.0:0.0:0.7303	.	245;283	G3V1U4;Q9UHB9	.;SRP68_HUMAN	A	23;245;283;283;182	.	ENSP00000312066:T283A	T	-	1	0	SRP68	71565210	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.536000	0.45693	0.939000	0.37446	0.533000	0.62120	ACT	SRP68	-	NULL		0.403	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	T	NM_014230		74053615	-1	no_errors	ENST00000307877	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74053615	T	C	74053615	3	2	153	1	0	0	0	0	1	0	0	0	15186	1696	59	5	1072	5	SRP68	17	74053615	Missense_Mutation	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	555201	74053615	7141595	1152	27126										
RHBDF2	79651	genome.wustl.edu	37	chr17	74467961	74467961	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcaggccactgaggaagccGaagatgtgggcgatgttgtc	16	8	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:74467961G>A	ENST00000313080.4	-	19	2598	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F	RHBDF2_ENST00000591885.1_Silent_p.F746F|RHBDF2_ENST00000389760.4_Silent_p.F746F	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	775					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGAGGAAGCCGAAGATGTGGG	0.612																																																	0													133	88	103					17																	74467961		2197	4295	6492	SO:0001819	synonymous_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2325C>T	17.37:g.74467961G>A			A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.F775	ENST00000313080.4	37	c.2325	CCDS32743.1	17																																																																																			RHBDF2	-	pfam_Peptidase_S54_rhomboid_dom		0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	G	NM_024599		74467961	-1	no_errors	ENST00000313080	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74467961	G	A	74467961	2	1	153	1	0	0	0	0	0	0	0	1	13350	1049	37	1		1	RHBDF2	17	74467961	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	414346	74467961	6727249	1153	27127										
ST6GALNAC2	10610	genome.wustl.edu	37	chr17	74569410	74569410	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcaaacagcttggcactctCtgagccgttcagaaggctca	11	12	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:74569410C>G	ENST00000225276.5	-	4	716	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	133					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGGCACTCTCTGAGCCGTTC	0.652																																																	0													25	22	23					17																	74569410		2200	4297	6497	SO:0001583	missense	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.397G>C	17.37:g.74569410C>G	ENSP00000225276:p.Glu133Gln		Q12971	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E133Q	ENST00000225276.5	37	c.397	CCDS11747.1	17	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344360	0.24339	.	.	ENSG00000070731	ENST00000225276	T	0.30981	1.51	4.77	3.79	0.43588	.	0.407140	0.24864	N	0.034999	T	0.33000	0.0848	L	0.41906	1.305	0.24535	N	0.994093	P	0.51147	0.942	P	0.52793	0.709	T	0.09164	-1.0687	10	0.15499	T	0.54	-14.0278	12.1996	0.54317	0.0:0.913:0.0:0.087	.	133	Q9UJ37	SIA7B_HUMAN	Q	133	ENSP00000225276:E133Q	ENSP00000225276:E133Q	E	-	1	0	ST6GALNAC2	72081005	0.759000	0.28416	0.064000	0.19789	0.028000	0.11728	1.384000	0.34396	2.185000	0.69588	0.591000	0.81541	GAG	ST6GALNAC2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.652	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC2	HGNC	protein_coding	OTTHUMT00000450650.1	C	NM_006456		74569410	-1	no_errors	ENST00000225276	ensembl	human	known	70_37	missense	SNP	0.591	G	G	74569410	C	G	74569410	3	3	153	1	0	0	0	0	1	0	0	0	15254	922	32	1	751	1	ST6GALNAC2	17	74569410	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	101449	74569410	6625800	1154	27128										
SOCS3	9021	genome.wustl.edu	37	chr17	76354826	76354826	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accagcttgagcacgcagtcGaagcggggcacgggctgcgt	16	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:76354826G>A	ENST00000330871.2	-	2	766	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	117	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GCACGCAGTCGAAGCGGGGCA	0.667																																																	0													27	28	28					17																	76354826		2201	4300	6501	SO:0001819	synonymous_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.351C>T	17.37:g.76354826G>A			O14509	Silent	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.F117	ENST00000330871.2	37	c.351	CCDS11756.1	17																																																																																			SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.667	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	G			76354826	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	silent	SNP	0.988	A	A	76354826	G	A	76354826	2	1	153	1	0	0	0	0	0	0	0	1	14945	1049	37	1		1	SOCS3	17	76354826	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1785416	76354826	4840384	1155	27129										
CARD14	79092	genome.wustl.edu	37	chr17	78177625	78177625	+	Nonsense_Mutation	SNP	C	C	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgctggtctctgcagggctCagcagcagctcatagccctc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78177625C>T	ENST00000573882.1	+	18	2760	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000344227.2_Nonsense_Mutation_p.Q742*|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000392434.2_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	742					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCAGGGCTCAGCAGCAGCT	0.687																																																	0													24	21	22					17																	78177625		2192	4289	6481	SO:0001587	stop_gained	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2224C>T	17.37:g.78177625C>T	ENSP00000458715:p.Gln742*		B8QQJ3|Q9BVB5	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.Q742*	ENST00000573882.1	37	c.2224	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.313491	0.99381	.	.	ENSG00000141527	ENST00000344227	.	.	.	4.12	4.12	0.48240	.	0.064020	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.1333	15.1677	0.72842	0.0:1.0:0.0:0.0	.	.	.	.	X	742	.	ENSP00000344549:Q742X	Q	+	1	0	CARD14	75792220	0.998000	0.40836	0.999000	0.59377	0.898000	0.52572	3.614000	0.54160	1.865000	0.54081	0.485000	0.47835	CAG	CARD14	-	NULL		0.687	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	C			78177625	1	no_errors	ENST00000344227	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	78177625	C	T	78177625	4	4	153	1	0	0	0	0	0	1	0	0	2651	827	29	1	2447	1	CARD14	17	78177625	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1822799	78177625	3017585	1156	27130	163	2								
CARD14	79092	genome.wustl.edu	37	chr17	78177634	78177634	+	Missense_Mutation	SNP	C	C	G													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgcagggctcagcagcagCtcatagccctcatccaggac							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78177634C>G	ENST00000573882.1	+	18	2769	c.2233C>G	c.(2233-2235)Ctc>Gtc	p.L745V	RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.L745V|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000392434.2_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	745					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCAGCAGCAGCTCATAGCCCT	0.677																																																	0													26	23	24					17																	78177634		2195	4293	6488	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2233C>G	17.37:g.78177634C>G	ENSP00000458715:p.Leu745Val		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.L745V	ENST00000573882.1	37	c.2233	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527133	0.44969	.	.	ENSG00000141527	ENST00000344227	T	0.05580	3.42	4.12	3.12	0.35913	.	0.230009	0.36303	N	0.002679	T	0.11836	0.0288	M	0.77103	2.36	0.80722	D	1	B	0.28082	0.2	B	0.33121	0.158	T	0.02437	-1.1159	10	0.44086	T	0.13	-14.9942	12.0181	0.53326	0.1747:0.8252:0.0:0.0	.	745	Q9BXL6	CAR14_HUMAN	V	745	ENSP00000344549:L745V	ENSP00000344549:L745V	L	+	1	0	CARD14	75792229	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	3.531000	0.53546	0.714000	0.32081	0.485000	0.47835	CTC	CARD14	-	NULL		0.677	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	C			78177634	1	no_errors	ENST00000344227	ensembl	human	known	70_37	missense	SNP	0.995	G	G	78177634	C	G	78177634	3	3	153	1	0	0	0	0	1	0	0	0	2651	797	28	4	2456	4	CARD14	17	78177634	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9	78177634	3017576	1157	27131	163	2								
RPTOR	57521	genome.wustl.edu	37	chr17	78796982	78796982	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcgtataactgcactcccgtCagcagcccgcgtctgccgcc	9	18	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78796982C>T	ENST00000306801.3	+	9	1457	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	RPTOR_ENST00000537330.1_Silent_p.V180V|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.V365V|RPTOR_ENST00000570891.1_Silent_p.V365V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	365					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCACTCCCGTCAGCAGCCCGC	0.552																																																	0													95	98	97					17																	78796982		2203	4300	6503	SO:0001819	synonymous_variant	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1095C>T	17.37:g.78796982C>T			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.V365	ENST00000306801.3	37	c.1095	CCDS11773.1	17																																																																																			RPTOR	-	NULL		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	C	NM_020761		78796982	1	no_errors	ENST00000306801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	78796982	C	T	78796982	2	4	153	1	0	0	0	0	0	0	0	1	13695	813	29	1		1	RPTOR	17	78796982	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	619348	78796982	2398228	1158	27132										
ACTG1	71	genome.wustl.edu	37	chr17	79479009	79479009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgctcctccggggccacgcGcagctcgttgtagaaggtgt	15	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:79479009G>A	ENST00000575842.1	-	2	709	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.R95C|ACTG1_ENST00000331925.2_Missense_Mutation_p.R95C|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.R95C			P63261	ACTG_HUMAN	actin, gamma 1	95					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGGGCCACGCGCAGCTCGTTG	0.627																																																	0													53	58	56					17																	79479009		2202	4300	6502	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.283C>T	17.37:g.79479009G>A	ENSP00000458162:p.Arg95Cys		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R95C	ENST00000575842.1	37	c.283	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	G	9.103	1.004516	0.19199	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94828	-3.53	3.99	3.02	0.34903	.	0.000000	0.64402	D	0.000001	D	0.96953	0.9005	M	0.91038	3.17	0.58432	D	0.999992	D	0.64830	0.994	P	0.61592	0.891	D	0.96705	0.9521	10	0.87932	D	0	.	10.4209	0.44350	0.0982:0.0:0.9018:0.0	.	95	P63261	ACTG_HUMAN	C	95	ENSP00000331514:R95C	ENSP00000331514:R95C	R	-	1	0	ACTG1	77093604	1.000000	0.71417	0.885000	0.34714	0.053000	0.15095	3.221000	0.51215	0.901000	0.36495	0.563000	0.77884	CGC	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	G	NM_001614		79479009	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79479009	G	A	79479009	3	1	153	1	0	0	0	0	1	0	0	0	196	1087	38	2	860	2	ACTG1	17	79479009	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	682027	79479009	1716201	1159	27133										
FN3K	64122	genome.wustl.edu	37	chr17	80706805	80706805	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgcagctggacctcattgaGaaggactatgctgaccgaga	13	10	1	3	rs532087945		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:80706805G>A	ENST00000300784.7	+	5	605	c.543G>A	c.(541-543)gaG>gaA	p.E181E		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	181					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACCTCATTGAGAAGGACTATG	0.597													G|||	1	0.000199681	8e-04	0	5008	,	,		17212	0		0	False		,,,				2504	0				Melanoma(10;391 597 14592 32548 32749)												0													61	57	58					17																	80706805		2203	4300	6503	SO:0001819	synonymous_variant	64122			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.543G>A	17.37:g.80706805G>A				Silent	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.E181	ENST00000300784.7	37	c.543	CCDS11818.1	17																																																																																			FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase		0.597	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	G	NM_022158		80706805	1	no_errors	ENST00000300784	ensembl	human	known	70_37	silent	SNP	1.000	A	A	80706805	G	A	80706805	2	1	153	1	0	0	0	0	0	0	0	1	5981	933	33	1		1	FN3K	17	80706805	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1227796	80706805	488405	1160	27134										
COLEC12	81035	genome.wustl.edu	37	chr18	333051	333051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aacaagatgtgaagacttgtCttcacagaaaagctttgcat	8	7	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:333051C>T	ENST00000400256.3	-	7	2116	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	637	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAAGACTTGTCTTCACAGAAA	0.388																																																	0													78	83	81					18																	333051		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1909G>A	18.37:g.333051C>T	ENSP00000383115:p.Asp637Asn		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.D637N	ENST00000400256.3	37	c.1909	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028327	0.54790	.	.	ENSG00000158270	ENST00000400256	T	0.17528	2.27	5.91	5.04	0.67666	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.439740	0.27052	N	0.021162	T	0.09730	0.0239	N	0.05619	-0.0049999999999999	0.37620	D	0.921267	B	0.02656	0.0	B	0.08055	0.003	T	0.18461	-1.0336	10	0.18710	T	0.47	-14.8675	15.1382	0.72586	0.0:0.9323:0.0:0.0677	.	637	Q5KU26	COL12_HUMAN	N	637	ENSP00000383115:D637N	ENSP00000383115:D637N	D	-	1	0	COLEC12	323051	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.054000	0.49908	1.512000	0.48834	0.650000	0.86243	GAC	COLEC12	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.388	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	C			333051	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	T	T	333051	C	T	333051	3	4	153	1	0	0	0	0	1	0	0	0	3717	913	32	1	335	1	COLEC12	18	333051	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		333051	77744197	1161	27135										
SMCHD1	23347	genome.wustl.edu	37	chr18	2674066	2674066	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcagtgatagataatggaaGaggaatgacctctaaacagc	11	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:2674066G>C	ENST00000320876.6	+	5	898	c.560G>C	c.(559-561)aGa>aCa	p.R187T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R187T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	187					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATAATGGAAGAGGAATGACC	0.353																																																	0													74	68	70					18																	2674066		1843	4086	5929	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.560G>C	18.37:g.2674066G>C	ENSP00000326603:p.Arg187Thr		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.R187T	ENST00000320876.6	37	c.560	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839424	0.71488	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.94613	-3.47;-3.47	5.42	5.42	0.78866	ATPase-like, ATP-binding domain (3);	0.143203	0.52532	D	0.000062	D	0.89560	0.6750	N	0.21142	0.635	0.35250	D	0.778597	P	0.40515	0.719	B	0.39217	0.294	D	0.92746	0.6212	10	0.54805	T	0.06	.	12.5543	0.56244	0.0759:0.0:0.9241:0.0	.	187	A6NHR9	SMHD1_HUMAN	T	187	ENSP00000326603:R187T;ENSP00000261598:R187T	ENSP00000261598:R187T	R	+	2	0	SMCHD1	2664066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.549000	0.85964	0.563000	0.77884	AGA	SMCHD1	-	superfamily_ATPase-like_ATP-bd		0.353	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	G			2674066	1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2674066	G	C	2674066	3	2	153	1	0	0	0	0	1	0	0	0	14818	942	33	1	578	1	SMCHD1	18	2674066	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2341015	2674066	75403182	1162	27136										
LPIN2	9663	genome.wustl.edu	37	chr18	2928604	2928604	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcaccttaggcaagctcttCtggaatacttgcaagctaag	8	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:2928604C>T	ENST00000261596.4	-	11	1843	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	535					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCAAGCTCTTCTGGAATACTT	0.433																																																	0													90	77	82					18																	2928604		2203	4300	6503	SO:0001819	synonymous_variant	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1605G>A	18.37:g.2928604C>T			A7MD25|D3DUH3	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.Q535	ENST00000261596.4	37	c.1605	CCDS11829.1	18																																																																																			LPIN2	-	NULL		0.433	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2928604	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2928604	C	T	2928604	2	4	153	1	0	0	0	0	0	0	0	1	8942	912	32	1		1	LPIN2	18	2928604	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	254538	2928604	75148644	1163	27137										
MYL12A	10627	genome.wustl.edu	37	chr18	3253901	3253901	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttagggaagaatccaactGatgagtatctagatgccatg	10	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:3253901G>A	ENST00000217652.3	+	3	591	c.196G>A	c.(196-198)Gat>Aat	p.D66N	MYL12A_ENST00000580887.1_Missense_Mutation_p.D72N|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000536605.1_Missense_Mutation_p.D66N|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000578611.1_Missense_Mutation_p.D66N|MYL12A_ENST00000579226.1_Missense_Mutation_p.D66N	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	66					platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						GAATCCAACTGATGAGTATCT	0.353																																																	0													72	70	71					18																	3253901		2203	4300	6503	SO:0001583	missense	10627			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"Myosins / Light chain", "EF-hand domain containing"	16701	protein-coding gene	gene with protein product	"myosin regulatory light chain 3"		"myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.196G>A	18.37:g.3253901G>A	ENSP00000217652:p.Asp66Asn		Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D66N	ENST00000217652.3	37	c.196	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955895	0.53293	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	T;T	0.79940	-1.32;-1.32	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	L	0.58583	1.82	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.19666	0.026;0.026	T	0.72114	-0.4388	10	0.13108	T	0.6	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	66;66	Q53X45;P19105	.;ML12A_HUMAN	N	66	ENSP00000217652:D66N;ENSP00000441231:D66N	ENSP00000217652:D66N	D	+	1	0	MYL12A	3243901	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.544000	0.98092	2.817000	0.96982	0.563000	0.77884	GAT	MYL12A	-	NULL		0.353	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	G	NM_006471		3253901	1	no_errors	ENST00000217652	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3253901	G	A	3253901	3	1	153	1	0	0	0	0	1	0	0	0	10068	1290	45	1	202	1	MYL12A	18	3253901	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	325297	3253901	74823347	1164	27138										
PTPRM	5797	genome.wustl.edu	37	chr18	8370921	8370921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatactggccagatgacacaGagatatataaagacattaaa	7	6	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:8370921G>C	ENST00000332175.8	+	22	4086	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.E955Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E804Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1031Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1030Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1017	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGACACAGAGATATATAA	0.348																																																	0													91	93	92					18																	8370921		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3049G>C	18.37:g.8370921G>C	ENSP00000331418:p.Glu1017Gln		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E1031Q	ENST00000332175.8	37	c.3091	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021172	0.93462	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.33753	1.03	0.80722	D	1	D;D;D	0.76494	0.999;0.977;0.976	D;P;D	0.76071	0.987;0.631;0.954	T	0.42515	-0.9447	10	0.66056	D	0.02	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	804;1030;1017	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1017;1031;955;804	ENSP00000331418:E1017Q;ENSP00000382933:E1031Q;ENSP00000382927:E955Q;ENSP00000387608:E804Q	ENSP00000331418:E1017Q	E	+	1	0	PTPRM	8360921	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.779000	0.99018	2.823000	0.97156	0.650000	0.86243	GAG	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8370921	1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8370921	G	C	8370921	3	2	153	1	0	0	0	0	1	0	0	0	12836	943	33	1	3182	1	PTPRM	18	8370921	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5117020	8370921	69706327	1165	27139										
PTPRM	5797	genome.wustl.edu	37	chr18	8379198	8379198	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgacaccaacgctgcgagtaGaggactgcagcatcgcactg	12	12	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:8379198G>C	ENST00000332175.8	+	26	4644	c.3607G>C	c.(3607-3609)Gag>Cag	p.E1203Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.E1141Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E990Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1217Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1216Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1203	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTGCGAGTAGAGGACTGCAG	0.562																																																	0													114	92	99					18																	8379198		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3607G>C	18.37:g.8379198G>C	ENSP00000331418:p.Glu1203Gln		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E1217Q	ENST00000332175.8	37	c.3649	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.491663	0.96339	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	L	0.52206	1.635	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.76071	0.987;0.986;0.986	T	0.00149	-1.1987	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	990;1216;1203	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1203;1217;1141;990	ENSP00000331418:E1203Q;ENSP00000382933:E1217Q;ENSP00000382927:E1141Q;ENSP00000387608:E990Q	ENSP00000331418:E1203Q	E	+	1	0	PTPRM	8369198	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	PTPRM	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.562	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8379198	1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8379198	G	C	8379198	3	2	153	1	0	0	0	0	1	0	0	0	12836	943	33	1	3756	1	PTPRM	18	8379198	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8277	8379198	69698050	1166	27140										
RALBP1	10928	genome.wustl.edu	37	chr18	9535792	9535792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcagcaggcgcaggaggacGaggagcctgagtggcgcggg	21	9	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:9535792G>A	ENST00000019317.4	+	10	2048	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	RALBP1_ENST00000383432.3_Missense_Mutation_p.E609K			Q15311	RBP1_HUMAN	ralA binding protein 1	609					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GCAGGAGGACGAGGAGCCTGA	0.667																																																	0																																										SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1825G>A	18.37:g.9535792G>A	ENSP00000019317:p.Glu609Lys		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E609K	ENST00000019317.4	37	c.1825	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	G	6.353	0.433271	0.12045	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.10005	2.92;2.92	4.83	2.08	0.27032	.	0.587244	0.16761	N	0.200640	T	0.10551	0.0258	L	0.50333	1.59	0.31184	N	0.701681	B	0.28258	0.205	B	0.19666	0.026	T	0.05517	-1.0880	10	0.41790	T	0.15	-6.8233	10.9037	0.47067	0.1322:0.1116:0.7562:0.0	.	609	Q15311	RBP1_HUMAN	K	609	ENSP00000019317:E609K;ENSP00000372924:E609K	ENSP00000019317:E609K	E	+	1	0	RALBP1	9525792	0.974000	0.33945	0.002000	0.10522	0.003000	0.03518	4.231000	0.58639	-0.025000	0.13918	-2.057000	0.00402	GAG	RALBP1	-	NULL		0.667	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	G	NM_006788		9535792	1	no_errors	ENST00000019317	ensembl	human	known	70_37	missense	SNP	0.835	A	A	9535792	G	A	9535792	3	1	153	1	0	0	0	0	1	0	0	0	13042	1059	37	1	1859	1	RALBP1	18	9535792	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1156594	9535792	68541456	1167	27141										
PPP4R1	9989	genome.wustl.edu	37	chr18	9549288	9549288	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggttagcagatgcggcatgaGatgcacagcaaactggtcca	13	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:9549288G>C	ENST00000400556.3	-	19	2669	c.2596C>G	c.(2596-2598)Ctc>Gtc	p.L866V	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L849V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	866					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TGCGGCATGAGATGCACAGCA	0.468																																					Melanoma(188;1232 2082 5061 11948 35994)												0													148	143	144					18																	9549288		2006	4180	6186	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2596C>G	18.37:g.9549288G>C	ENSP00000383402:p.Leu866Val		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L866V	ENST00000400556.3	37	c.2596	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935427	0.52866	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.36157	1.27;1.27	5.51	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.208125	0.32901	N	0.005501	T	0.26448	0.0646	N	0.25890	0.77	0.45515	D	0.998476	B;B;B	0.27679	0.043;0.185;0.064	B;B;B	0.36808	0.066;0.071;0.233	T	0.06356	-1.0831	9	.	.	.	-15.572	7.8826	0.29631	0.1435:0.133:0.7235:0.0	.	849;866;849	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	866;849	ENSP00000383402:L866V;ENSP00000383401:L849V	.	L	-	1	0	PPP4R1	9539288	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.261000	0.65496	1.421000	0.47157	0.655000	0.94253	CTC	PPP4R1	-	superfamily_ARM-type_fold		0.468	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	G	NM_005134		9549288	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9549288	G	C	9549288	3	2	153	1	0	0	0	0	1	0	0	0	12430	942	33	1	264	1	PPP4R1	18	9549288	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	13496	9549288	68527960	1168	27142										
PPP4R1	9989	genome.wustl.edu	37	chr18	9562029	9562029	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctaaaactgctattgttgctCaagtctgaatcgctgtgaat	8	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:9562029C>G	ENST00000400556.3	-	13	1864	c.1791G>C	c.(1789-1791)ttG>ttC	p.L597F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L580F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	597					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATTGTTGCTCAAGTCTGAAT	0.373																																					Melanoma(188;1232 2082 5061 11948 35994)												0													169	158	161					18																	9562029		1882	4101	5983	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1791G>C	18.37:g.9562029C>G	ENSP00000383402:p.Leu597Phe		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L597F	ENST00000400556.3	37	c.1791	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165480	0.21538	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.20463	2.08;2.07	5.5	4.62	0.57501	Armadillo-type fold (1);	0.335595	0.20502	N	0.091065	T	0.27063	0.0663	L	0.60455	1.87	0.37315	D	0.90929	B;P;B	0.34587	0.164;0.458;0.006	B;B;B	0.42188	0.071;0.379;0.029	T	0.13072	-1.0523	9	.	.	.	-2.4263	10.5933	0.45323	0.0:0.8443:0.0:0.1557	.	580;597;580	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	F	597;580	ENSP00000383402:L597F;ENSP00000383401:L580F	.	L	-	3	2	PPP4R1	9552029	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	1.354000	0.34056	1.310000	0.45006	0.655000	0.94253	TTG	PPP4R1	-	superfamily_ARM-type_fold		0.373	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	C	NM_005134		9562029	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9562029	C	G	9562029	3	3	153	1	0	0	0	0	1	0	0	0	12430	825	29	1	1093	1	PPP4R1	18	9562029	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12741	9562029	68515219	1169	27143										
MPPE1	65258	genome.wustl.edu	37	chr18	11889405	11889405	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcataatggaagccaatgtCatggtttccagcaactacct	7	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:11889405C>G	ENST00000588072.1	-	5	1696	c.475G>C	c.(475-477)Gac>Cac	p.D159H	MPPE1_ENST00000317235.7_Missense_Mutation_p.D159H|MPPE1_ENST00000399978.2_Missense_Mutation_p.D159H|MPPE1_ENST00000344987.7_Missense_Mutation_p.D159H|MPPE1_ENST00000309976.9_Missense_Mutation_p.D159H	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	159					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AAGCCAATGTCATGGTTTCCA	0.448																																																	0													118	99	106					18																	11889405		2203	4300	6503	SO:0001583	missense	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.475G>C	18.37:g.11889405C>G	ENSP00000465894:p.Asp159His		B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.D159H	ENST00000588072.1	37	c.475	CCDS11853.1	18	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708152	0.89018	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;D;T	0.84873	0.64;0.64;0.64;-1.91;0.64	5.77	5.77	0.91146	Calcineurin-like phosphoesterase superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94995	0.8138	10	0.87932	D	0	-9.2098	20.3473	0.98799	0.0:1.0:0.0:0.0	.	159;159;62;159;159;159	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	H	159;159;62;159;159	ENSP00000327257:D159H;ENSP00000311200:D159H;ENSP00000312935:D62H;ENSP00000339423:D159H;ENSP00000382860:D159H	ENSP00000311200:D159H	D	-	1	0	MPPE1	11879405	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.129000	0.77225	2.884000	0.98904	0.655000	0.94253	GAC	MPPE1	-	pfam_Metallo_PEstase_dom		0.448	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	C	NM_023075		11889405	-1	no_errors	ENST00000588072	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11889405	C	G	11889405	3	3	153	1	0	0	0	0	1	0	0	0	9763	826	29	1	743	1	MPPE1	18	11889405	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2327376	11889405	66187843	1170	27144										
CEP192	55125	genome.wustl.edu	37	chr18	13072797	13072797	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataattctgcatctacaactCaacatttacgactgcttatt	3	10	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:13072797C>G	ENST00000325971.8	+	27	5197	c.3604C>G	c.(3604-3606)Caa>Gaa	p.Q1202E	CEP192_ENST00000506447.1_Missense_Mutation_p.Q1798E|CEP192_ENST00000430049.2_Missense_Mutation_p.Q1323E			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1202					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCTACAACTCAACATTTACG	0.363																																																	0													127	118	121					18																	13072797		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3604C>G	18.37:g.13072797C>G	ENSP00000317156:p.Gln1202Glu		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.Q1798E	ENST00000325971.8	37	c.5392		18	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485192	0.63962	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.48522	0.81;0.81;0.81	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.71581	2.175	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.996;0.982;0.994	T	0.70608	-0.4825	10	0.66056	D	0.02	-17.5626	19.8356	0.96657	0.0:1.0:0.0:0.0	.	1323;1798;400	C9JT09;E9PF99;Q9HCK3	.;.;.	E	1798;1202;1202;1323	ENSP00000427550:Q1798E;ENSP00000317156:Q1202E;ENSP00000389190:Q1323E	ENSP00000317156:Q1202E	Q	+	1	0	CEP192	13062797	1.000000	0.71417	0.701000	0.30321	0.043000	0.13939	7.370000	0.79589	2.857000	0.98124	0.650000	0.86243	CAA	CEP192	-	NULL		0.363	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13072797	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13072797	C	G	13072797	3	3	153	1	0	0	0	0	1	0	0	0	3256	827	29	1	5502	1	CEP192	18	13072797	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1183392	13072797	65004451	1171	27145										
MIB1	57534	genome.wustl.edu	37	chr18	19359615	19359615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggcattgatgaagatcatGacattgtagtacagtatcca	10	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:19359615G>A	ENST00000261537.6	+	6	1141	c.877G>A	c.(877-879)Gac>Aac	p.D293N	MIB1_ENST00000578646.1_3'UTR|AC091038.1_ENST00000582102.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	293					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGAAGATCATGACATTGTAGT	0.368																																																	0													287	253	264					18																	19359615		2203	4300	6503	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.877G>A	18.37:g.19359615G>A	ENSP00000261537:p.Asp293Asn		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.D293N	ENST00000261537.6	37	c.877	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.144638	0.94603	.	.	ENSG00000101752	ENST00000261537	T	0.49139	0.79	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.81802	2.56	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.74728	-0.3567	10	0.87932	D	0	-12.4678	17.8823	0.88844	0.0:0.0:1.0:0.0	.	293	Q86YT6	MIB1_HUMAN	N	293	ENSP00000261537:D293N	ENSP00000261537:D293N	D	+	1	0	MIB1	17613613	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.804000	0.99143	2.305000	0.77605	0.289000	0.19496	GAC	MIB1	-	NULL		0.368	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	G	NM_020774		19359615	1	no_errors	ENST00000261537	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19359615	G	A	19359615	3	1	153	1	0	0	0	0	1	0	0	0	9589	1290	45	1	899	1	MIB1	18	19359615	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6286818	19359615	58717633	1172	27146										
MCART2	147407	genome.wustl.edu	37	chr18	29340254	29340254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgtccctgcaagcactgccGccacgccatgggttgcaaac	10	16	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:29340254G>A	ENST00000579441.2	-	1	370	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SLC25A52_ENST00000269205.5_Missense_Mutation_p.A134V			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	124					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AAGCACTGCCGCCACGCCATG	0.473																																																	0													129	124	126					18																	29340254		2203	4300	6503	SO:0001583	missense	147407				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.371C>T	18.37:g.29340254G>A	ENSP00000462754:p.Ala124Val			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A134V	ENST00000579441.2	37	c.401		18	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914366	0.52546	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	D	0.82081	-1.57	1.22	0.271	0.15640	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	M	0.92219	3.285	0.58432	D	0.999997	D	0.76494	0.999	D	0.71870	0.975	D	0.87067	0.2157	10	0.87932	D	0	.	5.5522	0.17097	0.2156:0.0:0.7844:0.0	.	124	Q3SY17	MCAR2_HUMAN	V	134;124	ENSP00000372612:A134V	ENSP00000372612:A134V	A	-	2	0	MCART2	27594252	1.000000	0.71417	0.055000	0.19348	0.074000	0.17049	6.039000	0.70972	0.084000	0.17077	0.505000	0.49811	GCG	SLC25A52	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.473	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	SLC25A52	HGNC	protein_coding		G	XM_084000		29340254	-1	no_errors	ENST00000269205	ensembl	human	known	70_37	missense	SNP	0.997	A	A	29340254	G	A	29340254	3	1	153	1	0	0	0	0	1	0	0	0	9393	1087	38	2	526	2	MCART2	18	29340254	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	9980639	29340254	48736994	1173	27147										
ASXL3	80816	genome.wustl.edu	37	chr18	31323015	31323015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaacaagctcgggcccagcGagaggctgctgcagctgctg	14	14	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:31323015G>T	ENST00000269197.5	+	12	3203	c.3203G>T	c.(3202-3204)cGa>cTa	p.R1068L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1068	Ala-rich.				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.R775L(1)|p.R1068L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGGGCCCAGCGAGAGGCTGCT	0.617																																																	2	Substitution - Missense(2)	lung(2)											22	24	24					18																	31323015		1858	4083	5941	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3203G>T	18.37:g.31323015G>T	ENSP00000269197:p.Arg1068Leu		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R1068L	ENST00000269197.5	37	c.3203	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103861	0.76983	.	.	ENSG00000141431	ENST00000269197	T	0.56776	0.44	5.9	5.04	0.67666	.	0.858943	0.09929	N	0.737425	T	0.72953	0.3525	M	0.69358	2.11	0.41614	D	0.988926	D	0.89917	1.0	D	0.85130	0.997	T	0.69011	-0.5258	10	0.87932	D	0	.	15.0365	0.71751	0.0687:0.0:0.9313:0.0	.	1068	Q9C0F0	ASXL3_HUMAN	L	1068	ENSP00000269197:R1068L	ENSP00000269197:R1068L	R	+	2	0	ASXL3	29577013	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	7.369000	0.79578	1.506000	0.48736	-0.133000	0.14855	CGA	ASXL3	-	NULL		0.617	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	G			31323015	1	no_errors	ENST00000269197	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31323015	G	T	31323015	3	4	153	1	0	0	0	0	1	0	0	0	1069	1058	37	3	3249	3	ASXL3	18	31323015	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1982761	31323015	46754233	1174	27148										
DTNA	1837	genome.wustl.edu	37	chr18	32418088	32418088	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaggacagtgaagtagagcaGaacaaactgctggctagggc	14	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:32418088G>A	ENST00000399113.3	+	11	1125	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	DTNA_ENST00000591182.1_Silent_p.Q54Q|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269191.6_Silent_p.Q375Q|DTNA_ENST00000348997.5_Silent_p.Q372Q|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269190.7_Silent_p.Q376Q|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000399097.3_Silent_p.Q54Q|DTNA_ENST00000269192.7_Silent_p.Q84Q|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000444659.1_Silent_p.Q375Q			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	375					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTAGAGCAGAACAAACTGC	0.453																																																	0													93	79	83					18																	32418088		2203	4300	6503	SO:0001819	synonymous_variant	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1125G>A	18.37:g.32418088G>A			A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.Q376	ENST00000399113.3	37	c.1128	CCDS59311.1	18																																																																																			DTNA	-	pirsf_Distrobrevin		0.453	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	G	NM_001390		32418088	1	no_errors	ENST00000269190	ensembl	human	known	70_37	silent	SNP	1.000	A	A	32418088	G	A	32418088	2	1	153	1	0	0	0	0	0	0	0	1	4798	933	33	1		1	DTNA	18	32418088	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1095073	32418088	45659160	1175	27149										
SMAD2	4087	genome.wustl.edu	37	chr18	45374926	45374926	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcagaacctctctgaatttGatgggtctgtaaagccatct	9	9	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:45374926G>C	ENST00000402690.2	-	8	1311	c.917C>G	c.(916-918)tCa>tGa	p.S306*	SMAD2_ENST00000591214.1_Nonsense_Mutation_p.S276*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S276*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S276*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S306*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	306	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTCTGAATTTGATGGGTCTGT	0.398																																																	0													125	114	118					18																	45374926		2203	4300	6503	SO:0001587	stop_gained	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.917C>G	18.37:g.45374926G>C	ENSP00000384449:p.Ser306*			Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S306*	ENST00000402690.2	37	c.917	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.634024	0.98895	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.81	4.94	0.65067	.	0.061117	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6417	0.68729	0.0693:0.0:0.9307:0.0	.	.	.	.	X	306;276;306	.	ENSP00000262160:S306X	S	-	2	0	SMAD2	43628924	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	9.869000	0.99810	1.463000	0.47967	0.591000	0.81541	TCA	SMAD2	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.398	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	G	NM_005901		45374926	-1	no_errors	ENST00000262160	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	45374926	G	C	45374926	4	2	153	1	0	0	0	0	0	1	0	0	14788	1294	45	1	502	1	SMAD2	18	45374926	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	12956838	45374926	32702322	1176	27150										
ONECUT2	9480	genome.wustl.edu	37	chr18	55143683	55143683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcaagcgtgcaaacgcaaaGagcaagaaccaaacaaagac	8	10	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:55143683G>C	ENST00000491143.2	+	2	1275	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	415					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CAAACGCAAAGAGCAAGAACC	0.483																																																	0													38	42	40					18																	55143683		2040	4198	6238	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1243G>C	18.37:g.55143683G>C	ENSP00000419185:p.Glu415Gln			Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E415Q	ENST00000491143.2	37	c.1243	CCDS42440.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684339|4.684339	0.88639|0.88639	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000491143;ENST00000262095|ENST00000481727	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Homeodomain-related (1);Lambda repressor-like, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83852|0.83852	0.5344|0.5344	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	D|.	0.71414|.	0.973|.	D|D	0.84007|0.84007	0.0346|0.0346	9|5	0.51188|.	T|.	0.08|.	-15.2113|-15.2113	20.1323|20.1323	0.98003|0.98003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	415|.	O95948|.	ONEC2_HUMAN|.	Q|T	396;415|43	.|.	ENSP00000262095:E415Q|.	E|R	+|+	1|2	0|0	ONECUT2|ONECUT2	53294681|53294681	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAG|AGA	ONECUT2	-	superfamily_Lambda_DNA-bd_dom		0.483	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	G			55143683	1	no_errors	ENST00000262095	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55143683	G	C	55143683	3	2	153	1	0	0	0	0	1	0	0	0	10893	943	33	1	1249	1	ONECUT2	18	55143683	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	9768757	55143683	22933565	1177	27151										
ATP8B1	5205	genome.wustl.edu	37	chr18	55319361	55319361	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgcaatgcttccaaaaattGaaaaagcattcacaaaagtc	6	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:55319361G>T	ENST00000283684.4	-	25	3304	c.3305C>A	c.(3304-3306)tCa>tAa	p.S1102*	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.S1102*|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1102					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCCAAAAATTGAAAAAGCATT	0.363																																																	0													75	69	71					18																	55319361		2203	4300	6503	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3305C>A	18.37:g.55319361G>T	ENSP00000283684:p.Ser1102*		Q9BTP8	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1102*	ENST00000283684.4	37	c.3305	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.990761	0.99027	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.68	5.68	0.88126	.	0.133343	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	19.3909	0.94583	0.0:0.0:1.0:0.0	.	.	.	.	X	1102	.	ENSP00000283684:S1102X	S	-	2	0	ATP8B1	53470359	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	6.597000	0.74118	2.669000	0.90835	0.563000	0.77884	TCA	ATP8B1	-	NULL		0.363	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	G	NM_005603		55319361	-1	no_errors	ENST00000283684	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	55319361	G	T	55319361	4	4	153	1	0	0	0	0	0	1	0	0	1195	1294	45	3	462	3	ATP8B1	18	55319361	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	175678	55319361	22757887	1178	27152										
ALPK2	115701	genome.wustl.edu	37	chr18	56204723	56204723	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccttcactagctgtgtgtGaaatgttcaaggtgaaagta	10	7	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:56204723G>A	ENST00000361673.3	-	5	2909	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	899						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCTGTGTGTGAAATGTTCAA	0.502																																																	0													74	73	73					18																	56204723		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2696C>T	18.37:g.56204723G>A	ENSP00000354991:p.Ser899Leu		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S899L	ENST00000361673.3	37	c.2696	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040417	0.35989	.	.	ENSG00000198796	ENST00000361673	T	0.43294	0.95	5.57	4.59	0.56863	.	0.874177	0.09938	N	0.736294	T	0.28962	0.0719	L	0.34521	1.04	0.09310	N	1	P;B	0.41393	0.748;0.386	B;B	0.36464	0.225;0.052	T	0.06516	-1.0822	10	0.31617	T	0.26	-2.4797	6.3504	0.21373	0.1517:0.0:0.8483:0.0	.	899;899	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	L	899	ENSP00000354991:S899L	ENSP00000354991:S899L	S	-	2	0	ALPK2	54355703	0.009000	0.17119	0.011000	0.14972	0.011000	0.07611	1.558000	0.36309	2.630000	0.89119	0.591000	0.81541	TCA	ALPK2	-	NULL		0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56204723	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.011	A	A	56204723	G	A	56204723	3	1	153	1	0	0	0	0	1	0	0	0	545	1294	45	1	3852	1	ALPK2	18	56204723	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	885362	56204723	21872525	1179	27153										
CDH19	28513	genome.wustl.edu	37	chr18	64172444	64172444	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctccacccccttcatcatCatattggaatatattctctc	2	14	5	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:64172444C>T	ENST00000262150.2	-	12	2216	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCTTCATCATCATATTGGAAT	0.393																																																	0													150	153	152					18																	64172444		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1924G>A	18.37:g.64172444C>T	ENSP00000262150:p.Asp642Asn		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D642N	ENST00000262150.2	37	c.1924	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	c	5.107	0.205421	0.09704	.	.	ENSG00000071991	ENST00000262150	T	0.77620	-1.11	5.18	3.32	0.38043	Cadherin, cytoplasmic domain (1);	0.335977	0.32819	N	0.005601	T	0.70482	0.3229	L	0.49455	1.56	0.80722	D	1	B	0.20052	0.041	B	0.26310	0.068	T	0.61559	-0.7038	10	0.24483	T	0.36	.	10.5878	0.45292	0.0:0.8358:0.0:0.1642	.	642	Q9H159	CAD19_HUMAN	N	642	ENSP00000262150:D642N	ENSP00000262150:D642N	D	-	1	0	CDH19	62323424	1.000000	0.71417	0.078000	0.20375	0.247000	0.25773	1.749000	0.38319	0.619000	0.30197	0.650000	0.86243	GAT	CDH19	-	pfam_Cadherin_cytoplasmic-dom		0.393	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	C	NM_021153		64172444	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	missense	SNP	0.985	T	T	64172444	C	T	64172444	3	4	153	1	0	0	0	0	1	0	0	0	3109	826	29	1	398	1	CDH19	18	64172444	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7967721	64172444	13904804	1180	27154										
CD226	10666	genome.wustl.edu	37	chr18	67534613	67534613	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttctgtgtatcccaggactCtgtaaatagatctcttctct	6	11	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:67534613C>G	ENST00000280200.4	-	6	1133	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	CD226_ENST00000581982.1_Missense_Mutation_p.E134Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q|CD226_ENST00000582621.1_Missense_Mutation_p.E289Q	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	289					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCCAGGACTCTGTAAATAGA	0.333																																					NSCLC(184;838 2130 8673 21498 50749)												0													272	262	265					18																	67534613		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.865G>C	18.37:g.67534613C>G	ENSP00000280200:p.Glu289Gln		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E289Q	ENST00000280200.4	37	c.865	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168561	0.21621	.	.	ENSG00000150637	ENST00000280200	T	0.24350	1.86	4.61	1.74	0.24563	.	0.957732	0.08663	N	0.912111	T	0.19087	0.0458	L	0.29908	0.895	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.16512	-1.0400	10	0.62326	D	0.03	.	5.8282	0.18566	0.0:0.6498:0.0:0.3502	.	289	Q15762	CD226_HUMAN	Q	289	ENSP00000280200:E289Q	ENSP00000280200:E289Q	E	-	1	0	CD226	65685593	0.001000	0.12720	0.002000	0.10522	0.022000	0.10575	-0.035000	0.12205	0.382000	0.24878	0.655000	0.94253	GAG	CD226	-	NULL		0.333	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	C	NM_006566		67534613	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	missense	SNP	0.003	G	G	67534613	C	G	67534613	3	3	153	1	0	0	0	0	1	0	0	0	2991	922	32	1	153	1	CD226	18	67534613	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3362169	67534613	10542635	1181	27155										
RTTN	25914	genome.wustl.edu	37	chr18	67781755	67781755	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctttctgaagttgttgcctGacagcagtccggatatcatc	9	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:67781755G>A	ENST00000255674.6	-	27	3895	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.V1203V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1203					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTGTTGCCTGACAGCAGTCC	0.398																																																	0													128	120	123					18																	67781755		1873	4122	5995	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3609C>T	18.37:g.67781755G>A			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.V1203	ENST00000255674.6	37	c.3609	CCDS42443.1	18																																																																																			RTTN	-	NULL		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67781755	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67781755	G	A	67781755	2	1	153	1	0	0	0	0	0	0	0	1	13767	1277	45	1		1	RTTN	18	67781755	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	247142	67781755	10295493	1182	27156										
ZNF407	55628	genome.wustl.edu	37	chr18	72775483	72775483	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcctccccgagcagctggctGatggagccacccaggtggtc	13	15	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:72775483G>A	ENST00000299687.5	+	8	5806	c.5806G>A	c.(5806-5808)Gat>Aat	p.D1936N		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1936					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGCTGGCTGATGGAGCCAC	0.642																																																	0													9	12	11					18																	72775483		2135	4238	6373	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5806G>A	18.37:g.72775483G>A	ENSP00000299687:p.Asp1936Asn		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.D1936N	ENST00000299687.5	37	c.5806	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076881	0.36662	.	.	ENSG00000215421	ENST00000299687	T	0.12569	2.67	4.73	4.73	0.59995	.	.	.	.	.	T	0.17874	0.0429	L	0.60455	1.87	0.80722	D	1	P	0.50272	0.933	B	0.39419	0.299	T	0.01136	-1.1440	9	0.87932	D	0	.	17.7253	0.88363	0.0:0.0:1.0:0.0	.	1936	Q9C0G0	ZN407_HUMAN	N	1936	ENSP00000299687:D1936N	ENSP00000299687:D1936N	D	+	1	0	ZNF407	70904471	1.000000	0.71417	0.008000	0.14137	0.021000	0.10359	5.149000	0.64863	0.638000	0.30545	0.459000	0.35465	GAT	ZNF407	-	NULL		0.642	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	G	NM_017757		72775483	1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.593	A	A	72775483	G	A	72775483	3	1	153	1	0	0	0	0	1	0	0	0	17917	1290	45	1	5966	1	ZNF407	18	72775483	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4993728	72775483	5301765	1183	27157										
TSHZ1	10194	genome.wustl.edu	37	chr18	72999996	72999996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tttgaggaggcgttggacgaGctgtcaccggtccacaagag	15	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:72999996G>A	ENST00000580243.1	+	2	2982	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	TSHZ1_ENST00000322038.5_Silent_p.E833E			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	878					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGTTGGACGAGCTGTCACCGG	0.617																																																	0													56	51	53					18																	72999996		2203	4300	6503	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2634G>A	18.37:g.72999996G>A			O60534|Q4LE29|Q53EU4	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E878	ENST00000580243.1	37	c.2634		18																																																																																			TSHZ1	-	superfamily_Homeodomain-like		0.617	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	G	NM_005786		72999996	1	no_errors	ENST00000580243	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72999996	G	A	72999996	2	1	153	1	0	0	0	0	0	0	0	1	16654	962	34	4		4	TSHZ1	18	72999996	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	224513	72999996	5077252	1184	27158										
ZNF236	7776	genome.wustl.edu	37	chr18	74580682	74580682	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggggatgagtttactctgcaGagtcagctggccgtgcacat	14	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:74580682G>A	ENST00000253159.8	+	4	597	c.399G>A	c.(397-399)caG>caA	p.Q133Q	ZNF236_ENST00000320610.9_Silent_p.Q135Q|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	133					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTACTCTGCAGAGTCAGCTGG	0.547																																																	0													132	143	139					18																	74580682		2068	4218	6286	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.399G>A	18.37:g.74580682G>A			B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q133	ENST00000253159.8	37	c.399	CCDS42447.1	18																																																																																			ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74580682	1	no_errors	ENST00000253159	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74580682	G	A	74580682	2	1	153	1	0	0	0	0	0	0	0	1	17819	933	33	1		1	ZNF236	18	74580682	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1580686	74580682	3496566	1185	27159										
POLRMT	5442	genome.wustl.edu	37	chr19	622168	622168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgctggacgttgcggaagGaatacacgtggtagagcacg	15	9	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:622168G>T	ENST00000588649.2	-	9	1916	c.1832C>A	c.(1831-1833)tCc>tAc	p.S611Y	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	611					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCGGAAGGAATACACGTG	0.662																																																	0													18	14	16					19																	622168		2187	4290	6477	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1832C>A	19.37:g.622168G>T	ENSP00000465759:p.Ser611Tyr		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.S626Y	ENST00000588649.2	37	c.1877	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	15.97	2.988367	0.53934	.	.	ENSG00000099821	ENST00000215591	T	0.44482	0.92	4.01	4.01	0.46588	.	0.190865	0.44483	D	0.000454	T	0.54791	0.1880	M	0.62723	1.935	0.38945	D	0.958229	D	0.61697	0.99	P	0.59703	0.862	T	0.61008	-0.7149	10	0.62326	D	0.03	-45.785	11.6607	0.51345	0.0:0.1798:0.8202:0.0	.	611	O00411	RPOM_HUMAN	Y	611	ENSP00000215591:S611Y	ENSP00000215591:S611Y	S	-	2	0	POLRMT	573168	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	6.037000	0.70956	2.234000	0.73211	0.455000	0.32223	TCC	POLRMT	-	NULL		0.662	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	G	NM_005035		622168	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	1.000	T	T	622168	G	T	622168	3	4	153	1	0	0	0	0	1	0	0	0	12262	1174	41	3	1912	3	POLRMT	19	622168	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		622168	58506815	1186	27160										
FSTL3	10272	genome.wustl.edu	37	chr19	681696	681696	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagtctgcagaagaggaagaGaacttcgtgtgagcctgcag	15	7	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:681696G>C	ENST00000166139.4	+	5	812	c.780G>C	c.(778-780)gaG>gaC	p.E260D	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	260					adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGGAAGAGAACTTCGTGT	0.602			T	CCND1	B-CLL																																			Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													14	12	13					19																	681696		2184	4267	6451	SO:0001583	missense	10272			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"follistatin-related protein"	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.780G>C	19.37:g.681696G>C	ENSP00000166139:p.Glu260Asp		A8K7E3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.E260D	ENST00000166139.4	37	c.780	CCDS12040.1	19	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069322	0.20147	.	.	ENSG00000070404	ENST00000166139	T	0.18810	2.19	3.68	2.56	0.30785	.	2.406890	0.01873	N	0.037373	T	0.18635	0.0447	L	0.31294	0.92	0.27756	N	0.944001	B	0.06786	0.001	B	0.06405	0.002	T	0.14504	-1.0470	10	0.46703	T	0.11	-25.9794	7.7917	0.29125	0.0:0.0:0.6139:0.3861	.	260	O95633	FSTL3_HUMAN	D	260	ENSP00000166139:E260D	ENSP00000166139:E260D	E	+	3	2	FSTL3	632696	1.000000	0.71417	0.998000	0.56505	0.324000	0.28378	1.179000	0.31993	1.897000	0.54924	0.462000	0.41574	GAG	FSTL3	-	NULL		0.602	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL3	HGNC	protein_coding	OTTHUMT00000452479.1	G	NM_005860		681696	1	no_errors	ENST00000166139	ensembl	human	known	70_37	missense	SNP	1.000	C	C	681696	G	C	681696	3	2	153	1	0	0	0	0	1	0	0	0	6096	933	33	1	798	1	FSTL3	19	681696	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	59528	681696	58447287	1187	27161										
PTBP1	5725	genome.wustl.edu	37	chr19	810808	810808	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caccacctgcgggtctccttCtccaagtccaccatctaggg	8	17	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:810808C>G	ENST00000349038.4	+	14	1651	c.1578C>G	c.(1576-1578)ttC>ttG	p.F526L	MIR3187_ENST00000583431.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.F545L|PTBP1_ENST00000356948.6_Missense_Mutation_p.F552L|PTBP1_ENST00000350092.4_Missense_Mutation_p.F192L	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	526	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTCCTTCTCCAAGTCCA	0.607																																																	0													56	63	61					19																	810808		2203	4300	6503	SO:0001583	missense	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1578C>G	19.37:g.810808C>G	ENSP00000014112:p.Phe526Leu		Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.F552L	ENST00000349038.4	37	c.1656	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704869	0.88924	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.74421	-0.84;-0.84;-0.41;0.04	5.38	3.24	0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.992;1.0	D;D;D;D	0.97110	0.999;0.997;0.971;1.0	D	0.86073	0.1539	10	0.87932	D	0	-40.6151	8.0659	0.30661	0.0:0.749:0.0:0.251	.	192;526;545;552	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	L	552;545;526;192	ENSP00000349428:F552L;ENSP00000408096:F545L;ENSP00000014112:F526L;ENSP00000342332:F192L	ENSP00000014112:F526L	F	+	3	2	PTBP1	761808	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.168000	0.50801	0.616000	0.30141	0.655000	0.94253	TTC	PTBP1	-	pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.607	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	C			810808	1	no_errors	ENST00000356948	ensembl	human	known	70_37	missense	SNP	1.000	G	G	810808	C	G	810808	3	3	153	1	0	0	0	0	1	0	0	0	12752	912	32	1	1714	1	PTBP1	19	810808	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	129112	810808	58318175	1188	27162										
C19orf6	91304	genome.wustl.edu	37	chr19	1011437	1011437	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggtccgcgagccacacgatGaggatgatgtagaaggcggt	16	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:1011437G>C	ENST00000356663.3	-	9	1267	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	TMEM259_ENST00000333175.5_Silent_p.L382L	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	382						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCCACACGATGAGGATGATGT	0.657																																																	0													66	48	54					19																	1011437		2190	4289	6479	SO:0001819	synonymous_variant	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1146C>G	19.37:g.1011437G>C			O60392|Q8NF79|Q96H30	Silent	SNP	pfam_Membralin	p.L382	ENST00000356663.3	37	c.1146	CCDS32862.1	19																																																																																			C19orf6	-	pfam_Membralin		0.657	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf6	HGNC	protein_coding	OTTHUMT00000458236.1	G	NM_033420		1011437	-1	no_errors	ENST00000356663	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1011437	G	C	1011437	2	2	153	1	0	0	0	0	0	0	0	1	1946	1277	45	1		1	C19orf6	19	1011437	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	200629	1011437	58117546	1189	27163										
CNN2	1265	genome.wustl.edu	37	chr19	1037782	1037782	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggccggcagatatatgacccCaagtactgcccgcaaggcac	11	14	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:1037782C>G	ENST00000263097.4	+	7	1176	c.813C>G	c.(811-813)ccC>ccG	p.P271P	CNN2_ENST00000348419.3_Silent_p.P232P|CNN2_ENST00000565096.2_Silent_p.P260P|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Silent_p.P292P|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	271					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATATGACCCCAAGTACTGCC	0.652																																																	0													62	73	70					19																	1037782		2203	4296	6499	SO:0001819	synonymous_variant	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.813C>G	19.37:g.1037782C>G			A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.P271	ENST00000263097.4	37	c.813	CCDS12053.1	19																																																																																			CNN2	-	prints_Calponin		0.652	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	C	NM_004368		1037782	1	no_errors	ENST00000263097	ensembl	human	known	70_37	silent	SNP	1.000	G	G	1037782	C	G	1037782	2	3	153	1	0	0	0	0	0	0	0	1	3615	581	21	4		4	CNN2	19	1037782	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	26345	1037782	58091201	1190	27164										
MUM1	84939	genome.wustl.edu	37	chr19	1364566	1364566	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaacataaaaaataccccttCtggccagcagtggtaagaac	7	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:1364566C>A	ENST00000415183.3	+	6	1301	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	MUM1_ENST00000591806.1_Missense_Mutation_p.F425L|MUM1_ENST00000344663.3_Missense_Mutation_p.F425L|MUM1_ENST00000311401.5_Missense_Mutation_p.F356L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	424	PWWP.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACCCCTTCTGGCCAGCAG	0.328																																																	0													64	64	64					19																	1364566		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1275C>A	19.37:g.1364566C>A	ENSP00000394925:p.Phe425Leu		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.F425L	ENST00000415183.3	37	c.1275		19	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337613	0.24253	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.69435	-0.4;-0.4;-0.4	4.62	2.29	0.28610	PWWP (1);	0.208487	0.42420	D	0.000702	T	0.67878	0.2940	L	0.46157	1.445	0.32024	N	0.600355	D;D;P;P	0.71674	0.996;0.998;0.675;0.761	P;P;B;B	0.61132	0.884;0.884;0.129;0.284	T	0.69168	-0.5216	9	.	.	.	.	6.3856	0.21559	0.0:0.6381:0.0:0.3619	.	425;425;356;424	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	425;356;425	ENSP00000345789:F425L;ENSP00000309135:F356L;ENSP00000394925:F425L	.	F	+	3	2	MUM1	1315566	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	0.797000	0.26999	0.928000	0.37168	0.563000	0.77884	TTC	MUM1	-	pfam_PWWP		0.328	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1364566	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1364566	C	A	1364566	3	1	153	1	0	0	0	0	1	0	0	0	10008	912	32	3	1297	3	MUM1	19	1364566	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	326784	1364566	57764417	1191	27165										
MKNK2	2872	genome.wustl.edu	37	chr19	2041044	2041044	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcggctggtactcaccccctGaacccaggggtgctgcagga	14	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2041044G>A	ENST00000591601.1	-	11	1140	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	MKNK2_ENST00000591142.1_Nonsense_Mutation_p.Q113*|MKNK2_ENST00000541165.1_Nonsense_Mutation_p.Q238*|MKNK2_ENST00000588014.1_Nonsense_Mutation_p.Q113*|MKNK2_ENST00000591588.1_Nonsense_Mutation_p.Q113*|MKNK2_ENST00000309340.7_Nonsense_Mutation_p.Q369*|MKNK2_ENST00000250896.3_Nonsense_Mutation_p.Q369*			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	369	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCCCCTGAACCCAGGGG	0.667																																																	0													71	63	66					19																	2041044		2203	4300	6503	SO:0001587	stop_gained	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1105C>T	19.37:g.2041044G>A	ENSP00000467811:p.Gln369*		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q369*	ENST00000591601.1	37	c.1105	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.808585	0.97853	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	.	.	.	3.82	3.82	0.43975	.	0.203652	0.42420	D	0.000706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-5.9651	14.8848	0.70560	0.0:0.0:1.0:0.0	.	.	.	.	X	369;369;238;309	.	ENSP00000250896:Q369X	Q	-	1	0	MKNK2	1992044	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.360000	0.79487	1.980000	0.57719	0.462000	0.41574	CAG	MKNK2	-	superfamily_Kinase-like_dom		0.667	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	G	NM_199054		2041044	-1	no_errors	ENST00000250896	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	2041044	G	A	2041044	4	1	153	1	0	0	0	0	0	1	0	0	9628	1299	45	1	399	1	MKNK2	19	2041044	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	676478	2041044	57087939	1192	27166										
AP3D1	8943	genome.wustl.edu	37	chr19	2114291	2114291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aataggcagtttctcgctgtCggctaagggcctggaggagg	16	8	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2114291C>T	ENST00000345016.5	-	22	2665	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	AP3D1_ENST00000355272.6_Missense_Mutation_p.D812N|AP3D1_ENST00000356926.4_Missense_Mutation_p.D721N|AP3D1_ENST00000350812.6_Missense_Mutation_p.D643N	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	812					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTCGCTGTCGGCTAAGGGC	0.547																																																	0													123	123	123					19																	2114291		2050	4178	6228	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2434G>A	19.37:g.2114291C>T	ENSP00000344055:p.Asp812Asn		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.D812N	ENST00000345016.5	37	c.2434	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470581	0.63625	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000350812	T;T;T;T	0.62105	2.24;0.05;1.58;0.05	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.76838	2.35	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.988	P;P;P	0.59115	0.852;0.776;0.786	T	0.73232	-0.4048	10	0.20519	T	0.43	-45.5748	17.0936	0.86628	0.0:1.0:0.0:0.0	.	812;812;721	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	N	721;812;812;643	ENSP00000349398:D721N;ENSP00000344055:D812N;ENSP00000347416:D812N;ENSP00000342321:D643N	ENSP00000344055:D812N	D	-	1	0	AP3D1	2065291	1.000000	0.71417	0.904000	0.35570	0.062000	0.15995	6.917000	0.75782	2.266000	0.75297	0.448000	0.29417	GAC	AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu		0.547	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	C			2114291	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2114291	C	T	2114291	3	4	153	1	0	0	0	0	1	0	0	0	746	884	31	1	1221	1	AP3D1	19	2114291	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	73247	2114291	57014692	1193	27167										
OAZ1	4946	genome.wustl.edu	37	chr19	2271386	2271386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacctgcatcatcttcagttCcagggtctccctccactgct	7	16	4	0	rs28384673	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2271386C>G	ENST00000602676.2	+	2	228	c.149C>G	c.(148-150)tCc>tGc	p.S50C	OAZ1_ENST00000322297.4_Missense_Mutation_p.S50C|OAZ1_ENST00000588673.2_Missense_Mutation_p.P79A|JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000583542.4_Missense_Mutation_p.S50C|OAZ1_ENST00000582888.4_Intron			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	50			S -> F (in dbSNP:rs28384673). {ECO:0000269|Ref.5}.		cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	ATCTTCAGTTCCAGGGTCTCC	0.687																																																	0													34	35	35					19																	2271386		1928	4136	6064	SO:0001583	missense	4946				CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"antizyme 1"	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.149C>G	19.37:g.2271386C>G	ENSP00000473381:p.Ser50Cys		O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.S50C	ENST00000602676.2	37	c.149	CCDS58639.1	19	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243116	0.22796	.	.	ENSG00000104904	ENST00000322297	T	0.13420	2.59	4.51	4.51	0.55191	.	0.737794	0.13814	N	0.360931	T	0.24699	0.0599	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	P	0.55667	0.781	T	0.02132	-1.1208	10	0.59425	D	0.04	.	16.1986	0.82053	0.0:1.0:0.0:0.0	.	50	P54368	OAZ1_HUMAN	C	50	ENSP00000314813:S50C	ENSP00000314813:S50C	S	+	2	0	OAZ1	2222386	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	4.279000	0.58953	2.057000	0.61298	0.462000	0.41574	TCC	OAZ1	-	pfam_ODC_AZ		0.687	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ1	HGNC	protein_coding	OTTHUMT00000467467.2	C	NM_004152		2271386	1	no_errors	ENST00000322297	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2271386	C	G	2271386	3	3	153	1	0	0	0	0	1	0	0	0	10828	855	30	1	155	1	OAZ1	19	2271386	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	157095	2271386	56857597	1194	27168										
TLE6	79816	genome.wustl.edu	37	chr19	2988095	2988095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccccgcctgcaggagcctCctggaagagcctctcggttt	11	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2988095C>A	ENST00000246112.4	+	11	910	c.709C>A	c.(709-711)Cct>Act	p.P237T	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.P114T	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	237					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAGCCTCCTGGAAGAGC	0.617																																																	0													72	66	68					19																	2988095		2097	4088	6185	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.709C>A	19.37:g.2988095C>A	ENSP00000246112:p.Pro237Thr		J3KMZ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.P237T	ENST00000246112.4	37	c.709	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781144	0.31502	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.23348	1.91;2.1	2.68	-2.75	0.05914	.	.	.	.	.	T	0.15869	0.0382	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46512	0.879;0.642;0.597	B;B;B	0.43274	0.414;0.178;0.14	T	0.18304	-1.0341	9	0.48119	T	0.1	0.6268	6.7861	0.23673	0.0:0.5265:0.2943:0.1792	.	237;114;114	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	T	237;237;114;114	ENSP00000246112:P237T;ENSP00000406893:P114T	ENSP00000246112:P237T	P	+	1	0	TLE6	2939095	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.768000	0.04715	-0.460000	0.07003	-0.502000	0.04539	CCT	TLE6	-	NULL		0.617	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	C	NM_024760		2988095	1	no_errors	ENST00000246112	ensembl	human	known	70_37	missense	SNP	0.003	A	A	2988095	C	A	2988095	3	1	153	1	0	0	0	0	1	0	0	0	15972	855	30	3	747	3	TLE6	19	2988095	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	716709	2988095	56140888	1195	27169										
TLE2	7089	genome.wustl.edu	37	chr19	3015661	3015661	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccccactcacataaggtcctGatggctccttctcatctgct	6	16	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:3015661G>C	ENST00000262953.6	-	9	930	c.668C>G	c.(667-669)tCa>tGa	p.S223*	TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000591529.1_Nonsense_Mutation_p.S237*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.S101*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.S237*|TLE2_ENST00000447365.2_De_novo_Start_OutOfFrame|TLE2_ENST00000455444.2_Nonsense_Mutation_p.S101*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Nonsense_Mutation_p.S224*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	223	CCN domain.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAAGGTCCTGATGGCTCCTT	0.652																																																	0													55	63	61					19																	3015661		2118	4220	6338	SO:0001587	stop_gained	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.668C>G	19.37:g.3015661G>C	ENSP00000262953:p.Ser223*		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Nonsense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S223*	ENST00000262953.6	37	c.668	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482408	0.84747	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	4.56	3.28	0.37604	.	0.959175	0.08602	N	0.921404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.3873	10.2096	0.43132	0.1444:0.0:0.8556:0.0	.	.	.	.	X	223;101;217;101;237;131	.	ENSP00000262953:S223X	S	-	2	0	TLE2	2966661	0.011000	0.17503	0.023000	0.16930	0.088000	0.18126	1.772000	0.38552	2.261000	0.74972	0.485000	0.47835	TCA	TLE2	-	NULL		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	G	NM_003260		3015661	-1	no_errors	ENST00000262953	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	3015661	G	C	3015661	4	2	153	1	0	0	0	0	0	1	0	0	15969	1294	45	1	1611	1	TLE2	19	3015661	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	27566	3015661	56113322	1196	27170										
NFIC	4782	genome.wustl.edu	37	chr19	3434306	3434306	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actggaacaggacccaacttCtccctgggggagctgcaggg	14	12	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:3434306C>T	ENST00000443272.2	+	5	792	c.741C>T	c.(739-741)ttC>ttT	p.F247F	NFIC_ENST00000589123.1_Silent_p.F238F|NFIC_ENST00000395111.3_Silent_p.F238F|NFIC_ENST00000586919.1_Silent_p.F214F|NFIC_ENST00000341919.3_Silent_p.F247F|NFIC_ENST00000590282.1_Silent_p.F247F|NFIC_ENST00000346156.5_Silent_p.F214F	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	247					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GACCCAACTTCTCCCTGGGGG	0.612																																																	0													100	93	95					19																	3434306		2203	4300	6503	SO:0001819	synonymous_variant	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.741C>T	19.37:g.3434306C>T			A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.F247	ENST00000443272.2	37	c.741	CCDS59330.1	19																																																																																			NFIC	-	pfam_CTF/NFI		0.612	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	C	NM_005597		3434306	1	no_errors	ENST00000443272	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3434306	C	T	3434306	2	4	153	1	0	0	0	0	0	0	0	1	10396	912	32	1		1	NFIC	19	3434306	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	418645	3434306	55694677	1197	27171										
STAP2	55620	genome.wustl.edu	37	chr19	4328763	4328763	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccgcactcggggtagcgctCcaggagcagttgtgcctcca	13	15	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:4328763C>G	ENST00000594605.1	-	6	622	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	STAP2_ENST00000600324.1_Missense_Mutation_p.E167Q|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	167	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTAGCGCTCCAGGAGCAGT	0.701																																																	0													24	26	25					19																	4328763		2197	4296	6493	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.499G>C	19.37:g.4328763C>G	ENSP00000471052:p.Glu167Gln		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.E167Q	ENST00000594605.1	37	c.499	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715856	0.89112	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.47	3.41	0.39046	SH2 motif (3);	0.120255	0.53938	U	0.000042	T	0.73094	0.3543	M	0.76328	2.33	0.47659	D	0.999487	D;D	0.56968	0.978;0.964	P;P	0.58577	0.841;0.728	T	0.75725	-0.3217	9	0.87932	D	0	-11.1001	11.4206	0.49978	0.1825:0.8174:0.0:0.0	.	167;167	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	Q	167	.	ENSP00000317912:E167Q	E	-	1	0	STAP2	4279763	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.717000	0.54911	0.840000	0.34995	0.479000	0.44913	GAG	STAP2	-	pfscan_SH2		0.701	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	C	NM_001013841		4328763	-1	no_errors	ENST00000314714	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4328763	C	G	4328763	3	3	153	1	0	0	0	0	1	0	0	0	15283	864	30	1	882	1	STAP2	19	4328763	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	894457	4328763	54800220	1198	27172										
KDM4B	23030	genome.wustl.edu	37	chr19	5119803	5119803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgggccggaggttgaccccGaggaggaggaggaggagccg	21	9	0	1	rs147027017		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:5119803G>A	ENST00000159111.4	+	11	1473	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E453K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	419					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTTGACCCCGAGGAGGAGGA	0.711																																																	0													10	9	9					19																	5119803		1955	3854	5809	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1255G>A	19.37:g.5119803G>A	ENSP00000159111:p.Glu419Lys		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E419K	ENST00000159111.4	37	c.1255	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188862	0.78789	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18174	2.23;2.27	4.76	4.76	0.60689	.	1.591330	0.03447	N	0.210078	T	0.22126	0.0533	L	0.46157	1.445	0.35053	D	0.760863	P;P	0.50443	0.935;0.893	B;B	0.41691	0.364;0.2	T	0.37009	-0.9724	10	0.17832	T	0.49	-25.9253	15.9624	0.79941	0.0:0.0:1.0:0.0	.	453;419	F5GX28;O94953	.;KDM4B_HUMAN	K	419;453	ENSP00000159111:E419K;ENSP00000440495:E453K	ENSP00000159111:E419K	E	+	1	0	KDM4B	5070803	1.000000	0.71417	0.938000	0.37757	0.583000	0.36354	4.188000	0.58351	2.190000	0.69967	0.561000	0.74099	GAG	KDM4B	-	NULL		0.711	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	G	NM_015015		5119803	1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	0.988	A	A	5119803	G	A	5119803	3	1	153	1	0	0	0	0	1	0	0	0	8149	1059	37	1	1289	1	KDM4B	19	5119803	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	791040	5119803	54009180	1199	27173										
INSR	3643	genome.wustl.edu	37	chr19	7119532	7119532	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atttcaacacctgttcattaGacaggccttggtaaggctgt	9	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7119532G>C	ENST00000302850.5	-	21	3864	c.3722C>G	c.(3721-3723)tCt>tGt	p.S1241C	INSR_ENST00000341500.5_Missense_Mutation_p.S1229C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CTGTTCATTAGACAGGCCTTG	0.468																																																	0													170	139	149					19																	7119532		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3722C>G	19.37:g.7119532G>C	ENSP00000303830:p.Ser1241Cys		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1241C	ENST00000302850.5	37	c.3722	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567550	0.86439	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.90444	-2.67;-2.67	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000335	D	0.95576	0.8562	M	0.88310	2.945	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.64410	0.826;0.925	D	0.96392	0.9290	10	0.87932	D	0	.	15.8435	0.78868	0.0:0.0:1.0:0.0	.	1229;1241	P06213-2;P06213	.;INSR_HUMAN	C	1241;1229	ENSP00000303830:S1241C;ENSP00000342838:S1229C	ENSP00000303830:S1241C	S	-	2	0	INSR	7070532	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	9.437000	0.97535	2.322000	0.78497	0.449000	0.29647	TCT	INSR	-	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,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom		0.468	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	G			7119532	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7119532	G	C	7119532	3	2	153	1	0	0	0	0	1	0	0	0	7793	942	33	1	434	1	INSR	19	7119532	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1999729	7119532	52009451	1200	27174										
PNPLA6	10908	genome.wustl.edu	37	chr19	7614939	7614939	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actggcgaacctctcatcttCacactgcgagcccaacgcga	8	16	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7614939C>T	ENST00000221249.6	+	17	2069	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PNPLA6_ENST00000414982.3_Silent_p.F594F|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Silent_p.F585F|PNPLA6_ENST00000545201.2_Silent_p.F520F|PNPLA6_ENST00000450331.3_Silent_p.F546F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	585					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCTCATCTTCACACTGCGAG	0.617																																																	0													120	108	112					19																	7614939		2203	4300	6503	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1638C>T	19.37:g.7614939C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F594	ENST00000221249.6	37	c.1782	CCDS32891.1	19																																																																																			PNPLA6	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.617	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	C	NM_006702		7614939	1	no_errors	ENST00000414982	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7614939	C	T	7614939	2	4	153	1	0	0	0	0	0	0	0	1	12193	825	29	1		1	PNPLA6	19	7614939	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	495407	7614939	51514044	1201	27175										
TRAPPC5	126003	genome.wustl.edu	37	chr19	7747467	7747467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acaagctggagcaggccaacGatgacgcgcgcaccttctac	11	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7747467G>A	ENST00000317378.5	+	2	515	c.328G>A	c.(328-330)Gat>Aat	p.D110N	TRAPPC5_ENST00000596148.1_Missense_Mutation_p.D110N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.D43N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.D110N|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	110					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						GCAGGCCAACGATGACGCGCG	0.627																																																	0													37	41	40					19																	7747467		2193	4282	6475	SO:0001583	missense	126003			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.328G>A	19.37:g.7747467G>A	ENSP00000316990:p.Asp110Asn		A8K7I6	Missense_Mutation	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31	p.D110N	ENST00000317378.5	37	c.328	CCDS42490.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.223625	0.95139	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.38401	1.14;1.14	4.1	4.1	0.47936	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.62024	0.2394	M	0.88979	2.995	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.71407	-0.4602	10	0.66056	D	0.02	-15.3769	13.8598	0.63552	0.0:0.0:1.0:0.0	.	110	Q8IUR0	TPPC5_HUMAN	N	110	ENSP00000316990:D110N;ENSP00000399025:D110N	ENSP00000316990:D110N	D	+	1	0	TRAPPC5	7653467	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.231000	0.95317	1.846000	0.53633	0.485000	0.47835	GAT	TRAPPC5	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31		0.627	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC5	HGNC	protein_coding	OTTHUMT00000461252.1	G	XM_058961		7747467	1	no_errors	ENST00000317378	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7747467	G	A	7747467	3	1	153	1	0	0	0	0	1	0	0	0	16493	1058	37	1	330	1	TRAPPC5	19	7747467	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	132528	7747467	51381516	1202	27176										
EVI5L	115704	genome.wustl.edu	37	chr19	7927119	7927119	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcgaggcccaggccctggccGagggccgcgagctgcggcag	19	15	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7927119G>C	ENST00000270530.4	+	15	1919	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	EVI5L_ENST00000538904.2_Missense_Mutation_p.E586Q	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	575					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGCCCTGGCCGAGGGCCGCGA	0.736																																																	0													5	7	7					19																	7927119		2125	4194	6319	SO:0001583	missense	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1723G>C	19.37:g.7927119G>C	ENSP00000270530:p.Glu575Gln		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E586Q	ENST00000270530.4	37	c.1756	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521857	0.64747	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.39787	1.06;1.06	4.65	4.65	0.58169	.	0.280695	0.38436	N	0.001685	T	0.47021	0.1423	L	0.56769	1.78	0.40856	D	0.983793	P;P	0.47034	0.76;0.889	P;P	0.48368	0.575;0.575	T	0.40251	-0.9573	10	0.26408	T	0.33	-12.8558	15.0636	0.71977	0.0:0.0:1.0:0.0	.	586;575	B9A6I9;Q96CN4	.;EVI5L_HUMAN	Q	575;586	ENSP00000270530:E575Q;ENSP00000445905:E586Q	ENSP00000270530:E575Q	E	+	1	0	EVI5L	7833119	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.849000	0.69465	2.424000	0.82194	0.542000	0.68232	GAG	EVI5L	-	NULL		0.736	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	G	NM_145245		7927119	1	no_errors	ENST00000538904	ensembl	human	known	70_37	missense	SNP	0.998	C	C	7927119	G	C	7927119	3	2	153	1	0	0	0	0	1	0	0	0	5302	1059	37	1	1814	1	EVI5L	19	7927119	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	179652	7927119	51201864	1203	27177										
FBN3	84467	genome.wustl.edu	37	chr19	8188852	8188852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcagggtgaccccacactcAtcctcatcccatcgcaggaa	9	16	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:8188852A>G	ENST00000600128.1	-	23	3186	c.2772T>C	c.(2770-2772)gaT>gaC	p.D924D	FBN3_ENST00000601739.1_Silent_p.D924D|FBN3_ENST00000270509.2_Silent_p.D924D			Q75N90	FBN3_HUMAN	fibrillin 3	924	TB 5.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCACACTCATCCTCATCCC	0.647																																																	0													119	72	88					19																	8188852		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2772T>C	19.37:g.8188852A>G			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.D924	ENST00000600128.1	37	c.2772	CCDS12196.1	19																																																																																			FBN3	-	superfamily_TB_dom,pirsf_FBN		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	A	NM_032447		8188852	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	silent	SNP	0.796	G	G	8188852	A	G	8188852	2	3	153	1	0	0	0	0	0	0	0	1	5722	214	8	5		5	FBN3	19	8188852	Silent	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	261733	8188852	50940131	1204	27178										
ZNF558	148156	genome.wustl.edu	37	chr19	8932741	8932741	+	Nonsense_Mutation	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgtgtgtgtcctttttgctGagaggctgggaacagggaag							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:8932741G>A	ENST00000601372.1	-	6	769	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Nonsense_Mutation_p.Q20*|ZNF558_ENST00000444186.2_5'Flank			Q96NG5	ZN558_HUMAN	zinc finger protein 558	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTTTTTGCTGAGAGGCTGGG	0.522																																																	0													169	152	158					19																	8932741		2203	4300	6503	SO:0001587	stop_gained	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.58C>T	19.37:g.8932741G>A	ENSP00000471277:p.Gln20*		A8K5F0|B7Z798	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q20*	ENST00000601372.1	37	c.58	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924874	0.92319	.	.	ENSG00000167785	ENST00000301475	.	.	.	2.95	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	1.7182	7.7413	0.28843	0.0:0.2611:0.7389:0.0	.	.	.	.	X	20	.	ENSP00000301475:Q20X	Q	-	1	0	ZNF558	8793741	0.029000	0.19370	0.009000	0.14445	0.198000	0.23893	2.066000	0.41452	0.761000	0.33130	0.591000	0.81541	CAG	ZNF558	-	NULL		0.522	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	G	NM_144693		8932741	-1	no_errors	ENST00000301475	ensembl	human	known	70_37	nonsense	SNP	0.010	A	A	8932741	G	A	8932741	4	1	153	1	0	0	0	0	0	1	0	0	18019	1299	45	1	1170	1	ZNF558	19	8932741	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	743889	8932741	50196242	1205	27179	164	2								
ZNF558	148156	genome.wustl.edu	37	chr19	8932743	8932743	+	Missense_Mutation	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgtgtgtcctttttgctgaGaggctgggaacagggaagac							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:8932743G>A	ENST00000601372.1	-	6	767	c.56C>T	c.(55-57)tCt>tTt	p.S19F	CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Missense_Mutation_p.S19F|ZNF558_ENST00000444186.2_5'Flank			Q96NG5	ZN558_HUMAN	zinc finger protein 558	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTTTTGCTGAGAGGCTGGGAA	0.532																																																	0													169	152	157					19																	8932743		2203	4300	6503	SO:0001583	missense	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.56C>T	19.37:g.8932743G>A	ENSP00000471277:p.Ser19Phe		A8K5F0|B7Z798	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S19F	ENST00000601372.1	37	c.56	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751516	0.31046	.	.	ENSG00000167785	ENST00000301475	T	0.06528	3.29	3.09	3.09	0.35607	.	.	.	.	.	T	0.04861	0.0131	N	0.19112	0.55	0.31237	N	0.695606	P	0.45531	0.86	B	0.44315	0.446	T	0.04976	-1.0914	9	0.09338	T	0.73	0.0057	9.9228	0.41474	0.0:0.0:1.0:0.0	.	19	Q96NG5	ZN558_HUMAN	F	19	ENSP00000301475:S19F	ENSP00000301475:S19F	S	-	2	0	ZNF558	8793743	0.022000	0.18835	0.017000	0.16124	0.205000	0.24178	1.336000	0.33850	2.043000	0.60533	0.591000	0.81541	TCT	ZNF558	-	NULL		0.532	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	G	NM_144693		8932743	-1	no_errors	ENST00000301475	ensembl	human	known	70_37	missense	SNP	0.018	A	A	8932743	G	A	8932743	3	1	153	1	0	0	0	0	1	0	0	0	18019	942	33	1	1172	1	ZNF558	19	8932743	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2	8932743	50196240	1206	27180	164	2								
DOCK6	57572	genome.wustl.edu	37	chr19	11347157	11347157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcccgcagctcctgctccaCgttgccctcgctcagcacag	10	19	1	0	rs375017238		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:11347157C>T	ENST00000294618.7	-	20	2268	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	RN7SL298P_ENST00000581369.1_RNA|C19orf80_ENST00000591200.1_5'Flank|DOCK6_ENST00000319867.7_Missense_Mutation_p.V57M	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	753					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCTGCTCCACGTTGCCCTCG	0.642																																																	0								C	MET/VAL	0,4222		0,0,2111	31	37	35		2257	3.9	1	19		35	1,8435		0,1,4217	no	missense	DOCK6	NM_020812.2	21	0,1,6328	TT,TC,CC		0.0119,0.0,0.0079	benign	753/2048	11347157	1,12657	2111	4218	6329	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2257G>A	19.37:g.11347157C>T	ENSP00000294618:p.Val753Met		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.V753M	ENST00000294618.7	37	c.2257	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616762	0.14129	0.0	1.19E-4	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.31247	1.5;1.5	4.98	3.94	0.45596	.	0.135022	0.53938	N	0.000052	T	0.16514	0.0397	N	0.12961	0.28	0.40633	D	0.981879	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.07233	-1.0783	10	0.25751	T	0.34	-18.1815	8.7996	0.34901	0.0:0.8107:0.0:0.1893	.	57;753	C9IZV6;Q96HP0	.;DOCK6_HUMAN	M	753;57	ENSP00000294618:V753M;ENSP00000321556:V57M	ENSP00000294618:V753M	V	-	1	0	DOCK6	11208157	0.025000	0.19082	0.976000	0.42696	0.488000	0.33401	-0.078000	0.11375	1.061000	0.40601	0.462000	0.41574	GTG	DOCK6	-	NULL		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812		11347157	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11347157	C	T	11347157	3	4	153	1	0	0	0	0	1	0	0	0	4701	536	19	2	4002	2	DOCK6	19	11347157	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2414414	11347157	47781826	1207	27181										
ZNF441	126068	genome.wustl.edu	37	chr19	11891117	11891117	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agccctgctttcaaatacatGaaagacctcagcatggaaag	8	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:11891117G>C	ENST00000357901.4	+	4	580	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	ZNF441_ENST00000454339.2_Missense_Mutation_p.E93Q	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAAATACATGAAAGACCTCA	0.408																																																	0													110	100	104					19																	11891117		2203	4300	6503	SO:0001583	missense	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.478G>C	19.37:g.11891117G>C	ENSP00000350576:p.Glu160Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E160Q	ENST00000357901.4	37	c.478	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.062999	0.00386	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.26957	1.7;1.7	1.04	-0.055	0.13811	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.08891	0.0220	N	0.10972	0.075	0.09310	N	1	B	0.17852	0.024	B	0.18871	0.023	T	0.36065	-0.9763	9	0.02654	T	1	.	2.5033	0.04638	0.2378:0.3224:0.4398:0.0	.	160	Q8N8Z8	ZN441_HUMAN	Q	116;160;93	ENSP00000350576:E160Q;ENSP00000403738:E93Q	ENSP00000350576:E160Q	E	+	1	0	ZNF441	11752117	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.030000	0.13688	0.007000	0.14760	0.305000	0.20034	GAA	ZNF441	-	smart_Znf_C2H2-like		0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	G	NM_152355		11891117	1	no_errors	ENST00000357901	ensembl	human	known	70_37	missense	SNP	0.000	C	C	11891117	G	C	11891117	3	2	153	1	0	0	0	0	1	0	0	0	17944	1291	45	1	492	1	ZNF441	19	11891117	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	543960	11891117	47237866	1208	27182										
MAN2B1	4125	genome.wustl.edu	37	chr19	12758139	12758139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcgggtgatggtgaaggtgGagaacaggtcctgcggggaa	21	5	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12758139G>C	ENST00000456935.2	-	23	2871	c.2831C>G	c.(2830-2832)tCc>tGc	p.S944C	CTD-2192J16.22_ENST00000597692.1_Silent_p.L130L|MAN2B1_ENST00000221363.4_Missense_Mutation_p.S943C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	944					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTGAAGGTGGAGAACAGGTC	0.617																																																	0													73	68	69					19																	12758139		2203	4300	6503	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2831C>G	19.37:g.12758139G>C	ENSP00000395473:p.Ser944Cys		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S944C	ENST00000456935.2	37	c.2831	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811726	0.70797	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80033	-1.33;-1.33	5.21	4.15	0.48705	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.792162	0.10821	N	0.630493	D	0.89483	0.6728	M	0.85197	2.74	0.44643	D	0.997624	D;D	0.71674	0.995;0.998	P;D	0.65443	0.893;0.935	D	0.87066	0.2156	10	0.66056	D	0.02	-33.5323	10.6045	0.45386	0.0:0.0:0.8004:0.1996	.	943;944	G5E928;O00754	.;MA2B1_HUMAN	C	944;883;943	ENSP00000395473:S944C;ENSP00000221363:S943C	ENSP00000221363:S943C	S	-	2	0	MAN2B1	12619139	0.998000	0.40836	0.988000	0.46212	0.957000	0.61999	3.198000	0.51035	1.367000	0.46095	0.561000	0.74099	TCC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	G			12758139	-1	no_errors	ENST00000456935	ensembl	human	known	70_37	missense	SNP	0.998	C	C	12758139	G	C	12758139	3	2	153	1	0	0	0	0	1	0	0	0	9239	1174	41	1	212	1	MAN2B1	19	12758139	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	867022	12758139	46370844	1209	27183										
MAN2B1	4125	genome.wustl.edu	37	chr19	12766654	12766654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggctgagaacagcagctccgGagggtgcgcctggctgtctg	17	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12766654G>A	ENST00000456935.2	-	14	1724	c.1684C>T	c.(1684-1686)Ccg>Tcg	p.P562S	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.P561S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	562					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCAGCTCCGGAGGGTGCGCC	0.597																																																	0													48	51	50					19																	12766654		2203	4300	6503	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1684C>T	19.37:g.12766654G>A	ENSP00000395473:p.Pro562Ser		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P562S	ENST00000456935.2	37	c.1684	CCDS32919.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.961|4.961	0.178422|0.178422	0.09443|0.09443	.|.	.|.	ENSG00000104774|ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363|ENST00000433513	T;T|.	0.78246|.	-1.16;-1.16|.	3.92|3.92	2.53|2.53	0.30540|0.30540	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	B;B|.	0.19583|.	0.037;0.021|.	B;B|.	0.17722|.	0.008;0.019|.	T|T	0.26608|0.26608	-1.0098|-1.0098	9|5	0.23302|.	T|.	0.38|.	-2.4711|-2.4711	5.6389|5.6389	0.17552|0.17552	0.2259:0.0:0.7741:0.0|0.2259:0.0:0.7741:0.0	.|.	561;562|.	G5E928;O00754|.	.;MA2B1_HUMAN|.	S|F	562;501;561|97	ENSP00000395473:P562S;ENSP00000221363:P561S|.	ENSP00000221363:P561S|.	P|S	-|-	1|2	0|0	MAN2B1|MAN2B1	12627654|12627654	0.025000|0.025000	0.19082|0.19082	0.051000|0.051000	0.19133|0.19133	0.886000|0.886000	0.51366|0.51366	0.707000|0.707000	0.25704|0.25704	0.305000|0.305000	0.22832|0.22832	0.313000|0.313000	0.20887|0.20887	CCG|TCC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.597	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	G			12766654	-1	no_errors	ENST00000456935	ensembl	human	known	70_37	missense	SNP	0.012	A	A	12766654	G	A	12766654	3	1	153	1	0	0	0	0	1	0	0	0	9239	1174	41	1	1395	1	MAN2B1	19	12766654	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8515	12766654	46362329	1210	27184										
JUNB	3726	genome.wustl.edu	37	chr19	12903464	12903464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagcggaagctggagcgcatCgcgcgcctggaggacaaggt	17	10	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12903464C>G	ENST00000302754.4	+	1	1155	c.879C>G	c.(877-879)atC>atG	p.I293M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	293	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGGAGCGCATCGCGCGCCTGG	0.657																																																	0													12	13	13					19																	12903464		2161	4266	6427	SO:0001583	missense	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.879C>G	19.37:g.12903464C>G	ENSP00000303315:p.Ile293Met		Q96GH3	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.I293M	ENST00000302754.4	37	c.879	CCDS12280.1	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640709	0.67244	.	.	ENSG00000171223	ENST00000302754	T	0.57436	0.4	3.48	2.32	0.28847	Basic-leucine zipper (bZIP) transcription factor (2);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.71921	0.3397	M	0.85859	2.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77138	-0.2698	10	0.87932	D	0	-9.9386	11.3346	0.49496	0.1809:0.8191:0.0:0.0	.	293	P17275	JUNB_HUMAN	M	293	ENSP00000303315:I293M	ENSP00000303315:I293M	I	+	3	3	JUNB	12764464	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.634000	0.24614	1.678000	0.50952	0.448000	0.29417	ATC	JUNB	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun		0.657	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	C	NM_002229		12903464	1	no_errors	ENST00000302754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12903464	C	G	12903464	3	3	153	1	0	0	0	0	1	0	0	0	7990	874	31	1	881	1	JUNB	19	12903464	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	136810	12903464	46225519	1211	27185										
CALR	811	genome.wustl.edu	37	chr19	13050249	13050249	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgtcccgtctcaggtttgcaGacaagccaggatgcacgctt	11	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:13050249G>C	ENST00000316448.5	+	3	274	c.201G>C	c.(199-201)caG>caC	p.Q67H		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	67	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CAGGTTTGCAGACAAGCCAGG	0.562											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69	65	66					19																	13050249		2203	4300	6503	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.201G>C	19.37:g.13050249G>C	ENSP00000320866:p.Gln67His	684	Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.Q67H	ENST00000316448.5	37	c.201	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087670	0.76642	.	.	ENSG00000179218	ENST00000316448	T	0.53423	0.62	5.45	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	H	0.94542	3.55	0.80722	D	1	P	0.46784	0.884	B	0.39660	0.306	T	0.73145	-0.4075	10	0.72032	D	0.01	-45.0445	12.5694	0.56328	0.082:0.0:0.918:0.0	.	67	P27797	CALR_HUMAN	H	67	ENSP00000320866:Q67H	ENSP00000320866:Q67H	Q	+	3	2	CALR	12911249	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.025000	0.41059	2.546000	0.85860	0.561000	0.74099	CAG	CALR	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin		0.562	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	G	NM_004343		13050249	1	no_errors	ENST00000316448	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13050249	G	C	13050249	3	2	153	1	0	0	0	0	1	0	0	0	2597	933	33	1	211	1	CALR	19	13050249	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	146785	13050249	46078734	1212	27186										
CACNA1A	773	genome.wustl.edu	37	chr19	13319680	13319680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgggcatagcggtccttgtCggggggcgggggatggtggt	22	7	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:13319680C>T	ENST00000360228.5	-	46	6669	c.6670G>A	c.(6670-6672)Gac>Aac	p.D2224N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D2225N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2225	Poly-Pro.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGTCCTTGTCGGGGGGCGGG	0.731																																																	0													2	3	3					19																	13319680		1555	3543	5098	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6670G>A	19.37:g.13319680C>T	ENSP00000353362:p.Asp2224Asn		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.D2224N	ENST00000360228.5	37	c.6670	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	c	19.57	3.851597	0.71719	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96619	-4.07	3.92	3.92	0.45320	.	.	.	.	.	D	0.96620	0.8897	L	0.44542	1.39	0.43673	D	0.996108	D;D;D;D	0.76494	0.996;0.991;0.999;0.968	P;P;D;P	0.72625	0.83;0.871;0.978;0.747	D	0.96583	0.9432	9	0.56958	D	0.05	.	12.9798	0.58557	0.0:1.0:0.0:0.0	.	2225;2230;2224;2213	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	N	2224;2230;2213;2225	ENSP00000353362:D2224N	ENSP00000317661:D2225N	D	-	1	0	CACNA1A	13180680	0.986000	0.35501	0.949000	0.38748	0.752000	0.42762	2.691000	0.47010	1.772000	0.52199	0.274000	0.19336	GAC	CACNA1A	-	NULL		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13319680	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	0.998	T	T	13319680	C	T	13319680	3	4	153	1	0	0	0	0	1	0	0	0	2543	884	31	1	858	1	CACNA1A	19	13319680	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	269431	13319680	45809303	1213	27187										
GIPC1	10755	genome.wustl.edu	37	chr19	14590226	14590226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccggctggagcactcaccaGatcctccaccgtggcggggc	13	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:14590226G>C	ENST00000393033.4	-	7	1035	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	GIPC1_ENST00000591349.1_Missense_Mutation_p.L159V|GIPC1_ENST00000393028.1_Missense_Mutation_p.L159V|GIPC1_ENST00000586027.1_Missense_Mutation_p.L256V|GIPC1_ENST00000393029.3_Missense_Mutation_p.L159V|GIPC1_ENST00000345425.2_Missense_Mutation_p.L256V	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	256					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCACTCACCAGATCCTCCACC	0.632																																					Pancreas(33;78 923 2910 41023 52850)												0													8	10	10					19																	14590226		2167	4252	6419	SO:0001583	missense	10755			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.766C>G	19.37:g.14590226G>C	ENSP00000376753:p.Leu256Val		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.L256V	ENST00000393033.4	37	c.766	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	G	2.565	-0.300993	0.05495	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;D;D	0.85411	-1.41;-1.41;-1.98;-1.98	4.06	1.86	0.25419	.	0.087235	0.47852	N	0.000202	T	0.60818	0.2298	N	0.03268	-0.37	0.47183	D	0.999343	B	0.02656	0.0	B	0.04013	0.001	T	0.45891	-0.9230	10	0.07990	T	0.79	-11.6097	6.8821	0.24179	0.1055:0.1916:0.7029:0.0	.	256	O14908	GIPC1_HUMAN	V	256;256;159;159;256	ENSP00000376753:L256V;ENSP00000340698:L256V;ENSP00000376749:L159V;ENSP00000376748:L159V	ENSP00000340698:L256V	L	-	1	2	GIPC1	14451226	0.001000	0.12720	0.985000	0.45067	0.839000	0.47603	-0.054000	0.11826	0.198000	0.20407	0.462000	0.41574	CTG	GIPC1	-	pirsf_UCP038083_PDZ		0.632	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	G			14590226	-1	no_errors	ENST00000345425	ensembl	human	known	70_37	missense	SNP	0.999	C	C	14590226	G	C	14590226	3	2	153	1	0	0	0	0	1	0	0	0	6411	933	33	1	247	1	GIPC1	19	14590226	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1270546	14590226	44538757	1214	27188										
EMR2	30817	genome.wustl.edu	37	chr19	14867138	14867138	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acactcctgtctacttgcttCtgcacctccagggacaattc	6	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:14867138C>G	ENST00000315576.3	-	12	1555	c.1104G>C	c.(1102-1104)caG>caC	p.Q368H	EMR2_ENST00000392967.2_Missense_Mutation_p.Q368H|EMR2_ENST00000596991.2_Missense_Mutation_p.Q368H|EMR2_ENST00000595839.1_Missense_Mutation_p.Q226H|EMR2_ENST00000353876.1_Missense_Mutation_p.Q275H|EMR2_ENST00000594294.1_Missense_Mutation_p.Q319H|EMR2_ENST00000353005.1_Missense_Mutation_p.Q226H|EMR2_ENST00000346057.1_Missense_Mutation_p.Q319H|EMR2_ENST00000392965.3_Missense_Mutation_p.Q368H|EMR2_ENST00000594076.1_Missense_Mutation_p.Q275H|EMR2_ENST00000601345.1_Missense_Mutation_p.Q368H|EMR2_ENST00000392964.3_Missense_Mutation_p.Q107H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	368					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTACTTGCTTCTGCACCTCCA	0.468																																																	0													133	108	116					19																	14867138		2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1104G>C	19.37:g.14867138C>G	ENSP00000319883:p.Gln368His		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.Q368H	ENST00000315576.3	37	c.1104	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089407	0.36855	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.79845	-0.97;-1.12;-0.5;0.29;1.02;-1.31;1.35;-1.19	2.86	1.75	0.24633	.	.	.	.	.	D	0.83436	0.5254	M	0.71036	2.16	0.09310	N	1	D;D;B;B;B;B;B;B	0.56521	0.976;0.964;0.039;0.317;0.08;0.086;0.006;0.037	P;P;B;B;B;B;B;B	0.60789	0.556;0.879;0.01;0.149;0.077;0.022;0.004;0.077	T	0.70572	-0.4835	9	0.15499	T	0.54	.	6.8157	0.23829	0.2778:0.7222:0.0:0.0	.	368;275;368;226;319;368;368;368	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	H	368;368;319;275;226;368;107;319	ENSP00000319883:Q368H;ENSP00000376694:Q368H;ENSP00000263380:Q319H;ENSP00000319454:Q275H;ENSP00000319838:Q226H;ENSP00000376692:Q368H;ENSP00000376691:Q107H;ENSP00000376689:Q319H	ENSP00000319883:Q368H	Q	-	3	2	EMR2	14728138	0.004000	0.15560	0.001000	0.08648	0.010000	0.07245	2.321000	0.43805	0.708000	0.31955	0.508000	0.49915	CAG	EMR2	-	prints_GPCR_2_CD97		0.468	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	C			14867138	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	missense	SNP	0.001	G	G	14867138	C	G	14867138	3	3	153	1	0	0	0	0	1	0	0	0	5117	912	32	1	1407	1	EMR2	19	14867138	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	276912	14867138	44261845	1215	27189										
SYDE1	85360	genome.wustl.edu	37	chr19	15219962	15219962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagaggggccctccagccccGaggcatcaaggagccctgca	13	16	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15219962G>A	ENST00000342784.2	+	2	215	c.184G>A	c.(184-186)Gag>Aag	p.E62K	SYDE1_ENST00000600440.1_Intron|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	62	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTCCAGCCCCGAGGCATCAAG	0.721																																																	0													8	9	8					19																	15219962		2049	4055	6104	SO:0001583	missense	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.184G>A	19.37:g.15219962G>A	ENSP00000341489:p.Glu62Lys		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E62K	ENST00000342784.2	37	c.184	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434328	0.62955	.	.	ENSG00000105137	ENST00000342784	T	0.09350	2.99	4.47	4.47	0.54385	.	0.347413	0.21684	N	0.070672	T	0.08268	0.0206	L	0.44542	1.39	0.22292	N	0.999225	B	0.30439	0.279	B	0.17979	0.02	T	0.27606	-1.0069	10	0.16420	T	0.52	.	9.9796	0.41806	0.0:0.0:0.7974:0.2026	.	62	Q6ZW31	SYDE1_HUMAN	K	62	ENSP00000341489:E62K	ENSP00000341489:E62K	E	+	1	0	SYDE1	15080962	1.000000	0.71417	0.752000	0.31206	0.570000	0.35934	6.344000	0.72991	2.046000	0.60703	0.655000	0.94253	GAG	SYDE1	-	NULL		0.721	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	G	NM_033025		15219962	1	no_errors	ENST00000342784	ensembl	human	known	70_37	missense	SNP	0.862	A	A	15219962	G	A	15219962	3	1	153	1	0	0	0	0	1	0	0	0	15465	1059	37	1	190	1	SYDE1	19	15219962	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	352824	15219962	43909021	1216	27190										
NOTCH3	4854	genome.wustl.edu	37	chr19	15271474	15271474	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctaagaactgacgagcgtctCaggccaacacttgcctcttg	9	13	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15271474C>G	ENST00000263388.2	-	33	7040	c.6965G>C	c.(6964-6966)tGa>tCa	p.*2322S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	0					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGAGCGTCTCAGGCCAACAC	0.572																																																	0													51	58	55					19																	15271474		2203	4299	6502	SO:0001578	stop_lost	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6965G>C	19.37:g.15271474C>G			Q9UEB3|Q9UPL3|Q9Y6L8	Nonstop_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.*2322S	ENST00000263388.2	37	c.6965	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544166	0.27563	.	.	ENSG00000074181	ENST00000263388	.	.	.	3.99	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3765	0.32447	0.0:0.8364:0.0:0.1636	.	.	.	.	S	2322	.	.	X	-	2	2	NOTCH3	15132474	0.988000	0.35896	0.933000	0.37362	0.756000	0.42949	0.935000	0.28924	0.519000	0.28406	0.591000	0.81541	TGA	NOTCH3	-	NULL		0.572	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435		15271474	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	15271474	C	G	15271474	4	3	153	1	0	0	0	0	0	0	0	0	10574	837	29	1	4	1	NOTCH3	19	15271474	Nonstop_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	51512	15271474	43857509	1217	27191										
BRD4	23476	genome.wustl.edu	37	chr19	15366981	15366982	+	Frame_Shift_Ins	INS	-	-	T													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctttccttttgtgcttttcINSttttttcttttccttcttgt					rs149289085	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15366981_15366982insT	ENST00000263377.2	-	9	1865_1866	c.1644_1645insA	c.(1642-1647)aaagaafs	p.E549fs	BRD4_ENST00000371835.4_Frame_Shift_Ins_p.E549fs|BRD4_ENST00000360016.5_Frame_Shift_Ins_p.E549fs|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	549	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ttgtgcttttcttttttctttt	0.426			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0																																										SO:0001589	frameshift_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1645dupA	19.37:g.15366987_15366987dupT	ENSP00000263377:p.Glu549fs		O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Ins	INS	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E548fs	ENST00000263377.2	37	c.1645_1644	CCDS12328.1	19																																																																																			BRD4	-	NULL		0.426	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	NM_058243		15366982	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.979	T	T	15366982	-	T	15366981	7	5	153	1	0	1	1	0	0	0	0	0	1507	922	32	0	2506	0	BRD4	19	15366981	Frame_Shift_Ins	INS	-	TCGA-IR-A3LK-01A-12D-A20U-09	95507	15366981	43762002	1218	27192	165	2								
BRD4	23476	genome.wustl.edu	37	chr19	15366988	15366988	+	Missense_Mutation	SNP	C	C	G													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttttgtgcttttcttttttCttttccttcttgtctttctc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15366988C>G	ENST00000263377.2	-	9	1859	c.1638G>C	c.(1636-1638)aaG>aaC	p.K546N	BRD4_ENST00000371835.4_Missense_Mutation_p.K546N|BRD4_ENST00000360016.5_Missense_Mutation_p.K546N|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	546	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tttcttttttcttttccttct	0.428			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													214	194	201					19																	15366988		2202	4300	6502	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1638G>C	19.37:g.15366988C>G	ENSP00000263377:p.Lys546Asn		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K546N	ENST00000263377.2	37	c.1638	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764715	0.69878	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.12879	2.64;2.64;2.64	5.55	3.41	0.39046	.	0.284418	0.29861	N	0.011004	T	0.28599	0.0708	M	0.66560	2.04	0.53005	D	0.999968	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.64144	0.922;0.882;0.922	T	0.03193	-1.1062	10	0.23891	T	0.37	-21.2776	11.3642	0.49662	0.0:0.8475:0.0:0.1525	.	546;546;546	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	546	ENSP00000263377:K546N;ENSP00000360901:K546N;ENSP00000353112:K546N	ENSP00000263377:K546N	K	-	3	2	BRD4	15227988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.974000	0.63771	1.358000	0.45922	0.561000	0.74099	AAG	BRD4	-	NULL		0.428	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15366988	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15366988	C	G	15366988	3	3	153	1	0	0	0	0	1	0	0	0	1507	912	32	1	2513	1	BRD4	19	15366988	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7	15366988	43761995	1219	27193	165	2								
WIZ	58525	genome.wustl.edu	37	chr19	15547672	15547672	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgggtggaaagggcaccgtGagaggtaagcggggccgacg	21	7	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15547672G>C	ENST00000389282.4	-	4	2754	c.2541C>G	c.(2539-2541)ctC>ctG	p.L847L	WIZ_ENST00000263381.7_Silent_p.L158L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	847					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AGGGCACCGTGAGAGGTAAGC	0.701																																																	0													21	25	24					19																	15547672		1883	4106	5989	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2541C>G	19.37:g.15547672G>C			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L847	ENST00000389282.4	37	c.2541		19																																																																																			WIZ	-	NULL		0.701	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547672	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	silent	SNP	0.824	C	C	15547672	G	C	15547672	2	2	153	1	0	0	0	0	0	0	0	1	17406	1277	45	1		1	WIZ	19	15547672	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	180684	15547672	43581311	1220	27194										
WIZ	58525	genome.wustl.edu	37	chr19	15547786	15547786	+	Silent	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggccagcagctcctgcagGatgttgatgggtgagacagt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15547786G>A	ENST00000389282.4	-	4	2640	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	WIZ_ENST00000263381.7_Silent_p.I120I			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	809					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCTCCTGCAGGATGTTGATGG	0.687																																																	0													49	59	55					19																	15547786		2103	4225	6328	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2427C>T	19.37:g.15547786G>A			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I809	ENST00000389282.4	37	c.2427		19																																																																																			WIZ	-	NULL		0.687	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547786	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	silent	SNP	1.000	A	A	15547786	G	A	15547786	2	1	153	1	0	0	0	0	0	0	0	1	17406	1164	41	1		1	WIZ	19	15547786	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	114	15547786	43581197	1221	27195	166	2								
WIZ	58525	genome.wustl.edu	37	chr19	15547792	15547792	+	Silent	SNP	G	G	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcagctcctgcaggatgttGatgggtgagacagtgagctc							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15547792G>A	ENST00000389282.4	-	4	2634	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	WIZ_ENST00000263381.7_Silent_p.I118I			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	807					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCAGGATGTTGATGGGTGAGA	0.692																																																	0													51	61	57					19																	15547792		2107	4233	6340	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2421C>T	19.37:g.15547792G>A			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I807	ENST00000389282.4	37	c.2421		19																																																																																			WIZ	-	NULL		0.692	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547792	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	silent	SNP	1.000	A	A	15547792	G	A	15547792	2	1	153	1	0	0	0	0	0	0	0	1	17406	1280	45	1		1	WIZ	19	15547792	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	6	15547792	43581191	1222	27196	166	2								
TPM4	7171	genome.wustl.edu	37	chr19	16192822	16192822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccacggccctgcagaagctgGaggaggcagaaaaagctgca	14	11	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:16192822G>A	ENST00000300933.4	+	2	492	c.232G>A	c.(232-234)Gag>Aag	p.E78K	TPM4_ENST00000344824.6_Missense_Mutation_p.E114K|TPM4_ENST00000538887.1_Missense_Mutation_p.E114K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	78					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GCAGAAGCTGGAGGAGGCAGA	0.567			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													60	52	55					19																	16192822		2203	4300	6503	SO:0001583	missense	7171				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.232G>A	19.37:g.16192822G>A	ENSP00000300933:p.Glu78Lys		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E114K	ENST00000300933.4	37	c.340	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.639493	0.96693	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	T;T;T	0.79653	-1.29;-1.29;-1.29	4.59	4.59	0.56863	.	0.247748	0.24912	U	0.034612	D	0.93291	0.7862	H	0.97783	4.075	0.80722	D	1	D;B	0.59767	0.986;0.359	D;P	0.66196	0.942;0.795	D	0.95914	0.8925	10	0.87932	D	0	-0.6103	16.822	0.85748	0.0:0.0:1.0:0.0	.	78;114	P67936;P67936-2	TPM4_HUMAN;.	K	114;114;78	ENSP00000345230:E114K;ENSP00000439135:E114K;ENSP00000300933:E78K	ENSP00000300933:E78K	E	+	1	0	TPM4	16053822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.484000	0.97940	2.261000	0.74972	0.585000	0.79938	GAG	TPM4	-	pfam_Tropomyosin		0.567	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	G	NM_003290		16192822	1	no_errors	ENST00000344824	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16192822	G	A	16192822	3	1	153	1	0	0	0	0	1	0	0	0	16439	1175	41	1	486	1	TPM4	19	16192822	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	645030	16192822	42936161	1223	27197										
CPAMD8	27151	genome.wustl.edu	37	chr19	17039021	17039021	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccacaatgacagactcattGgatggctctggaccatggcc	11	12	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:17039021G>C	ENST00000443236.1	-	25	3340	c.3309C>G	c.(3307-3309)tcC>tcG	p.S1103S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1056						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGACTCATTGGATGGCTCTG	0.577																																																	0													34	38	37					19																	17039021		1973	4158	6131	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3309C>G	19.37:g.17039021G>C			Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.S1103	ENST00000443236.1	37	c.3309	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	0.467	-0.886461	0.02511	.	.	ENSG00000160111	ENST00000443236	T	0.36520	1.25	3.13	2.05	0.26809	.	.	.	.	.	T	0.41050	0.1142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10474	-1.0628	5	.	.	.	.	10.4377	0.44445	0.0:0.0:0.6261:0.3739	.	.	.	.	R	1114	ENSP00000402505:P1114R	.	P	-	2	0	CPAMD8	16900021	1.000000	0.71417	0.880000	0.34516	0.085000	0.17905	2.338000	0.43957	0.295000	0.22570	0.655000	0.94253	CCA	CPAMD8	-	pfam_Methyltransf_FA		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	G	NM_015692		17039021	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	silent	SNP	1.000	C	C	17039021	G	C	17039021	2	2	153	1	0	0	0	0	0	0	0	1	3800	1335	47	4		4	CPAMD8	19	17039021	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	846199	17039021	42089962	1224	27198										
USHBP1	83878	genome.wustl.edu	37	chr19	17367422	17367422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaaggtggggccaggctctGagagaatcttcattagagaa	13	8	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:17367422G>A	ENST00000252597.3	-	9	1501	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	USHBP1_ENST00000431146.2_Missense_Mutation_p.S379L|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCAGGCTCTGAGAGAATCTT	0.622																																																	0													75	76	76					19																	17367422		2203	4300	6503	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1328C>T	19.37:g.17367422G>A	ENSP00000252597:p.Ser443Leu			Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.S443L	ENST00000252597.3	37	c.1328	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	G	4.419	0.077414	0.08485	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17691	2.27;2.26	4.69	0.913	0.19354	.	0.856210	0.10225	N	0.700410	T	0.11537	0.0281	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35325	-0.9793	10	0.26408	T	0.33	-0.9148	4.5246	0.11975	0.113:0.0:0.507:0.38	.	379;443	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	L	443;379	ENSP00000252597:S443L;ENSP00000407902:S379L	ENSP00000252597:S443L	S	-	2	0	USHBP1	17228422	0.718000	0.27976	0.055000	0.19348	0.032000	0.12392	0.850000	0.27737	0.365000	0.24400	0.655000	0.94253	TCA	USHBP1	-	NULL		0.622	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	G	NM_031941		17367422	-1	no_errors	ENST00000252597	ensembl	human	known	70_37	missense	SNP	0.028	A	A	17367422	G	A	17367422	3	1	153	1	0	0	0	0	1	0	0	0	17068	1294	45	1	803	1	USHBP1	19	17367422	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	328401	17367422	41761561	1225	27199										
ANKLE1	126549	genome.wustl.edu	37	chr19	17396272	17396272	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctgccagcccgagccttctCactgaccccagctgagcgcc	9	20	1	2	rs146189965	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:17396272C>T	ENST00000394458.3	+	7	1685	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	ANKLE1_ENST00000404085.1_Missense_Mutation_p.S466L|ANKLE1_ENST00000594072.1_Missense_Mutation_p.S433L|ANKLE1_ENST00000433424.2_Missense_Mutation_p.H439Y|ANKLE1_ENST00000598347.1_Missense_Mutation_p.S444L	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	470	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CGAGCCTTCTCACTGACCCCA	0.587													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		17387	0		0	False		,,,				2504	0																0								C	LEU/SER	5,4401	11.4+/-27.6	0,5,2198	122	135	130		1409	0.2	0	19	dbSNP_134	130	0,8600		0,0,4300	yes	missense	ANKLE1	NM_152363.4	145	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	470/616	17396272	5,13001	2203	4300	6503	SO:0001583	missense	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1409C>T	19.37:g.17396272C>T	ENSP00000377971:p.Ser470Leu		A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM	p.S470L	ENST00000394458.3	37	c.1409	CCDS12354.2	19	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	4.119|4.119	0.020263|0.020263	0.08006|0.08006	0.001135|0.001135	0.0|0.0	ENSG00000160117|ENSG00000160117	ENST00000433424|ENST00000404261;ENST00000404085;ENST00000394458;ENST00000438921	T|T	0.72282|0.72615	-0.64|-0.67	4.44|4.44	0.244|0.244	0.15507|0.15507	.|.	.|0.450396	.|0.19533	.|N	.|0.111993	T|T	0.61035|0.61035	0.2315|0.2315	L|L	0.58669|0.58669	1.825|1.825	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15719	.|0.014;0.012;0.006;0.006	.|B;B;B;B	.|0.17098	.|0.017;0.009;0.005;0.005	T|T	0.55270|0.55270	-0.8167|-0.8167	7|10	0.87932|0.59425	D|D	0|0.04	-14.2059|-14.2059	5.9377|5.9377	0.19175|0.19175	0.0:0.6214:0.1665:0.2121|0.0:0.6214:0.1665:0.2121	.|.	.|444;430;470;433	.|E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.|.;.;ANKL1_HUMAN;.	Y|L	439|470;466;433;444	ENSP00000394460:H439Y|ENSP00000384008:S466L	ENSP00000394460:H439Y|ENSP00000377971:S433L	H|S	+|+	1|2	0|0	ANKLE1|ANKLE1	17257272|17257272	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.611000|0.611000	0.37282|0.37282	0.359000|0.359000	0.20233|0.20233	0.139000|0.139000	0.18822|0.18822	0.561000|0.561000	0.74099|0.74099	CAC|TCA	ANKLE1	-	NULL		0.587	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	C	NM_152363		17396272	1	no_errors	ENST00000394458	ensembl	human	known	70_37	missense	SNP	0.005	T	T	17396272	C	T	17396272	3	4	153	1	0	0	0	0	1	0	0	0	632	838	29	1	1435	1	ANKLE1	19	17396272	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	28850	17396272	41732711	1226	27200										
CCDC124	115098	genome.wustl.edu	37	chr19	18047326	18047326	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgatgccaagaagcagaagGagctggaggatgcctactgg	15	8	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:18047326G>T	ENST00000597436.1	+	2	204	c.97G>T	c.(97-99)Gag>Tag	p.E33*	CCDC124_ENST00000445755.2_Nonsense_Mutation_p.E33*	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	33					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GAAGCAGAAGGAGCTGGAGGA	0.637																																																	0													62	56	58					19																	18047326		2202	4299	6501	SO:0001587	stop_gained	115098			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.97G>T	19.37:g.18047326G>T	ENSP00000471455:p.Glu33*			Nonsense_Mutation	SNP	pfam_DUF1014,superfamily_HMG_superfamily	p.E33*	ENST00000597436.1	37	c.97	CCDS12369.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.723330	0.96847	.	.	ENSG00000007080	ENST00000445755	.	.	.	4.52	4.52	0.55395	.	0.121211	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-11.0976	14.8012	0.69916	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000408730:E33X	E	+	1	0	CCDC124	17908326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.793000	0.69060	2.089000	0.63090	0.555000	0.69702	GAG	CCDC124	-	NULL		0.637	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	G	NM_138442		18047326	1	no_errors	ENST00000445755	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	18047326	G	T	18047326	4	4	153	1	0	0	0	0	0	1	0	0	2765	1175	41	3	99	3	CCDC124	19	18047326	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	651054	18047326	41081657	1227	27201										
SLC25A42	284439	genome.wustl.edu	37	chr19	19221580	19221580	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagggcgccgtgcgcggcctCtacaaaggcttgagcatgaa	15	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:19221580C>T	ENST00000318596.7	+	8	1003	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	284					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGCGCGGCCTCTACAAAGGCT	0.687																																																	0													44	34	37					19																	19221580		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.852C>T	19.37:g.19221580C>T			D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L284	ENST00000318596.7	37	c.852	CCDS32966.1	19																																																																																			SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.687	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19221580	1	no_errors	ENST00000318596	ensembl	human	known	70_37	silent	SNP	0.994	T	T	19221580	C	T	19221580	2	4	153	1	0	0	0	0	0	0	0	1	14537	900	32	1		1	SLC25A42	19	19221580	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1174254	19221580	39907403	1228	27202										
ZNF101	94039	genome.wustl.edu	37	chr19	19788738	19788738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagtgggctttgctgagtccTtcccagaagaatctctacag	11	10	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:19788738T>C	ENST00000592502.1	+	2	179	c.69T>C	c.(67-69)ccT>ccC	p.P23P	ZNF101_ENST00000444249.2_Silent_p.P23P|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGCTGAGTCCTTCCCAGAAGA	0.522																																																	0													113	109	111					19																	19788738		2203	4300	6503	SO:0001819	synonymous_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.69T>C	19.37:g.19788738T>C			C9JU83|Q0VDG9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P23	ENST00000592502.1	37	c.69	CCDS32971.1	19																																																																																			ZNF101	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	T	NM_033204		19788738	1	no_errors	ENST00000318110	ensembl	human	known	70_37	silent	SNP	0.808	C	C	19788738	T	C	19788738	2	2	153	1	0	0	0	0	0	0	0	1	17744	1596	56	5		5	ZNF101	19	19788738	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	567158	19788738	39340245	1229	27203										
ZNF99	7652	genome.wustl.edu	37	chr19	22940786	22940786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggtttctctccagtatgaAttatctcatgttttctaagg	8	7	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:22940786A>C	ENST00000596209.1	-	4	2015	c.1925T>G	c.(1924-1926)aTt>aGt	p.I642S	ZNF99_ENST00000397104.3_Missense_Mutation_p.I551S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCAGTATGAATTATCTCATG	0.358																																																	0													39	41	40					19																	22940786		2033	4212	6245	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1925T>G	19.37:g.22940786A>C	ENSP00000472969:p.Ile642Ser		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I551S	ENST00000596209.1	37	c.1652	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	a	11.94	1.789504	0.31685	.	.	ENSG00000213973	ENST00000397104	T	0.00659	5.94	1.16	-1.84	0.07809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	L	0.31926	0.97	0.28805	N	0.898569	D	0.69078	0.997	D	0.73380	0.98	T	0.48559	-0.9025	9	0.87932	D	0	.	5.7424	0.18102	0.5275:0.0:0.4725:0.0	.	551	A8MXY4	ZNF99_HUMAN	S	551	ENSP00000380293:I551S	ENSP00000380293:I551S	I	-	2	0	ZNF99	22732626	0.000000	0.05858	0.008000	0.14137	0.657000	0.38888	0.123000	0.15708	-0.353000	0.08224	0.163000	0.16589	ATT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	A	XM_065124		22940786	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.862	C	C	22940786	A	C	22940786	3	2	153	1	0	0	0	0	1	0	0	0	18234	101	4	5	1472	5	ZNF99	19	22940786	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	3152048	22940786	36188197	1230	27204										
ZNF99	7652	genome.wustl.edu	37	chr19	22952025	22952025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaccaggtttctgtagttCtctaacataacattcctata	5	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:22952025C>G	ENST00000596209.1	-	2	195	c.105G>C	c.(103-105)gaG>gaC	p.E35D	ZNF99_ENST00000397104.3_Missense_Mutation_p.E56D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCTGTAGTTCTCTAACATAA	0.383																																																	0													76	83	81					19																	22952025		2202	4300	6502	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.105G>C	19.37:g.22952025C>G	ENSP00000472969:p.Glu35Asp		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E56D	ENST00000596209.1	37	c.168	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	c	10.62	1.400860	0.25291	.	.	ENSG00000213973	ENST00000397104	T	0.03920	3.76	1.05	-0.378	0.12497	Krueppel-associated box (4);	.	.	.	.	T	0.22475	0.0542	M	0.93763	3.455	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.06570	-1.0819	9	0.66056	D	0.02	.	3.6202	0.08093	0.0:0.7003:0.0:0.2997	.	56	A8MXY4	ZNF99_HUMAN	D	56	ENSP00000380293:E56D	ENSP00000380293:E56D	E	-	3	2	ZNF99	22743865	0.506000	0.26139	0.074000	0.20217	0.066000	0.16364	-0.039000	0.12124	-0.331000	0.08501	-0.330000	0.08379	GAG	ZNF99	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22952025	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.081	G	G	22952025	C	G	22952025	3	3	153	1	0	0	0	0	1	0	0	0	18234	912	32	1	2968	1	ZNF99	19	22952025	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11239	22952025	36176958	1231	27205										
CCDC123	84902	genome.wustl.edu	37	chr19	33417123	33417123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggcattgagctcgtccttCtctttcatcatatcttcata	6	11	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:33417123C>G	ENST00000305768.5	-	11	1225	c.1137G>C	c.(1135-1137)gaG>gaC	p.E379D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	379					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCTCGTCCTTCTCTTTCATCA	0.363																																																	0													214	212	213					19																	33417123		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1137G>C	19.37:g.33417123C>G	ENSP00000306105:p.Glu379Asp		B9EGA6|Q8N5J8	Missense_Mutation	SNP	NULL	p.E379D	ENST00000305768.5	37	c.1137	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190940	0.58017	.	.	ENSG00000121289	ENST00000305768	T	0.59638	0.25	5.11	-0.193	0.13244	.	0.048793	0.85682	D	0.000000	T	0.65312	0.2679	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	T	0.62034	-0.6939	10	0.49607	T	0.09	-19.2096	7.138	0.25539	0.0:0.4335:0.0:0.5665	.	132;379	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	D	379	ENSP00000306105:E379D	ENSP00000306105:E379D	E	-	3	2	CEP89	38108963	1.000000	0.71417	0.989000	0.46669	0.628000	0.37860	0.961000	0.29267	0.241000	0.21283	0.555000	0.69702	GAG	CEP89	-	NULL		0.363	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	C	NM_032816		33417123	-1	no_errors	ENST00000305768	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33417123	C	G	33417123	3	3	153	1	0	0	0	0	1	0	0	0	2764	912	32	1	1250	1	CCDC123	19	33417123	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	10465098	33417123	25711860	1232	27206										
RHPN2	85415	genome.wustl.edu	37	chr19	33493247	33493247	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagctggcccaggagtagggGatgttctctttcaccggcgc	14	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:33493247G>A	ENST00000254260.3	-	9	1046	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	RHPN2_ENST00000400226.4_Silent_p.I186I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	337	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGGAGTAGGGGATGTTCTCTT	0.617																																																	0													65	65	65					19																	33493247		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1011C>T	19.37:g.33493247G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.I337	ENST00000254260.3	37	c.1011	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.617	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	G	NM_033103		33493247	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	silent	SNP	0.999	A	A	33493247	G	A	33493247	2	1	153	1	0	0	0	0	0	0	0	1	13381	1164	41	1		1	RHPN2	19	33493247	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	76124	33493247	25635736	1233	27207										
KCTD15	79047	genome.wustl.edu	37	chr19	34302352	34302352	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcgaggaggtcttccccgaGaccggagacgtcatgtgcaa	13	11	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:34302352G>A	ENST00000430256.3	+	5	996	c.588G>A	c.(586-588)gaG>gaA	p.E196E	KCTD15_ENST00000588881.1_Silent_p.E196E|KCTD15_ENST00000589786.1_Silent_p.E196E|KCTD15_ENST00000284006.6_Silent_p.E196E			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	196					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					TCTTCCCCGAGACCGGAGACG	0.672																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												0													37	28	31					19																	34302352		2203	4300	6503	SO:0001819	synonymous_variant	79047			AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"potassium channel tetramerisation domain containing 15"			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.588G>A	19.37:g.34302352G>A			A8K600|Q9BVI6	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E196	ENST00000430256.3	37	c.588	CCDS46039.1	19	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417779	0.25552	.	.	ENSG00000153885	ENST00000413790	.	.	.	5.01	3.98	0.46160	.	.	.	.	.	T	0.64853	0.2636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67868	-0.5559	5	0.87932	D	0	.	8.4362	0.32789	0.1722:0.0:0.8278:0.0	.	.	.	.	K	71	.	ENSP00000406942:R71K	R	+	2	0	KCTD15	38994192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.872000	0.56085	2.330000	0.79161	0.655000	0.94253	AGA	KCTD15	-	NULL		0.672	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD15	HGNC	protein_coding	OTTHUMT00000451462.2	G	NM_024076		34302352	1	no_errors	ENST00000430256	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34302352	G	A	34302352	2	1	153	1	0	0	0	0	0	0	0	1	8122	933	33	1		1	KCTD15	19	34302352	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	809105	34302352	24826631	1234	27208										
DMKN	93099	genome.wustl.edu	37	chr19	35996882	35996882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaacatcccaggagacgtctCagagttctatggaaccaagg	10	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:35996882C>T	ENST00000339686.3	-	8	1221	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	DMKN_ENST00000488892.1_Missense_Mutation_p.E45K|DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000440396.1_Missense_Mutation_p.E379K|DMKN_ENST00000402589.2_Missense_Mutation_p.E62K|DMKN_ENST00000480502.1_Missense_Mutation_p.E62K|DMKN_ENST00000424570.2_Missense_Mutation_p.E361K|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000451297.2_Missense_Mutation_p.E332K|DMKN_ENST00000436012.1_Missense_Mutation_p.E45K|DMKN_ENST00000447113.2_Missense_Mutation_p.E399K|DMKN_ENST00000418261.1_Missense_Mutation_p.E349K|DMKN_ENST00000443640.1_Missense_Mutation_p.E112K|DMKN_ENST00000467637.1_Missense_Mutation_p.E74K|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000458071.1_Missense_Mutation_p.E94K|DMKN_ENST00000602781.1_Missense_Mutation_p.E62K|DMKN_ENST00000419602.1_Missense_Mutation_p.E338K|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000414866.2_Missense_Mutation_p.E62K|DMKN_ENST00000392206.2_Missense_Mutation_p.E62K|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000429837.1_Missense_Mutation_p.E308K	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	349						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGAGACGTCTCAGAGTTCTAT	0.517																																																	0													143	137	139					19																	35996882		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1045G>A	19.37:g.35996882C>T	ENSP00000342012:p.Glu349Lys		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.E349K	ENST00000339686.3	37	c.1045	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119847	0.56613	.	.	ENSG00000161249	ENST00000402589;ENST00000339686;ENST00000392207;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640;ENST00000447113;ENST00000392206;ENST00000440396;ENST00000458071;ENST00000418261;ENST00000424570;ENST00000451297;ENST00000450261	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.34	-1.83	0.07833	.	0.711192	0.11627	N	0.545122	T	0.41236	0.1150	L	0.46157	1.445	0.09310	N	1	B;D;B;B;D;B;B;B;B;P;P;B;B;B	0.58620	0.103;0.983;0.426;0.426;0.979;0.264;0.034;0.103;0.103;0.655;0.907;0.103;0.103;0.058	B;D;B;B;P;B;B;B;B;B;P;B;B;B	0.63877	0.085;0.919;0.14;0.14;0.84;0.085;0.059;0.059;0.085;0.194;0.663;0.058;0.085;0.059	T	0.36553	-0.9743	10	0.72032	D	0.01	-0.0604	9.5687	0.39414	0.0987:0.633:0.2683:0.0	.	45;379;332;349;361;5;5;25;43;338;308;349;62;112	B4E3D1;E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1	.;.;.;.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.	K	62;349;361;45;62;308;338;112;399;62;379;94;349;361;332;82	ENSP00000384509:E62K;ENSP00000342012:E349K;ENSP00000412075:E45K;ENSP00000392222:E62K;ENSP00000405503:E308K;ENSP00000391036:E338K;ENSP00000406864:E112K;ENSP00000394908:E399K;ENSP00000376042:E62K;ENSP00000415277:E379K;ENSP00000403957:E94K;ENSP00000414743:E349K;ENSP00000388404:E361K;ENSP00000409513:E332K;ENSP00000397005:E82K	ENSP00000342012:E349K	E	-	1	0	DMKN	40688722	0.009000	0.17119	0.007000	0.13788	0.024000	0.10985	0.639000	0.24690	-0.339000	0.08401	-0.188000	0.12872	GAG	DMKN	-	NULL		0.517	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	C	NM_033317		35996882	-1	no_errors	ENST00000339686	ensembl	human	known	70_37	missense	SNP	0.010	T	T	35996882	C	T	35996882	3	4	153	1	0	0	0	0	1	0	0	0	4592	835	29	1	579	1	DMKN	19	35996882	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1694530	35996882	23132101	1235	27209										
SBSN	374897	genome.wustl.edu	37	chr19	36017549	36017549	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catccctgttcacctacattCagcagctggttggcctcctt	7	15	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36017549C>T	ENST00000452271.2	-	1	1663	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	SBSN_ENST00000518157.1_Silent_p.L202L	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	545						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCTACATTCAGCAGCTGGT	0.627																																																	0													107	96	100					19																	36017549		2203	4300	6503	SO:0001819	synonymous_variant	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1635G>A	19.37:g.36017549C>T			A8K5J0|E9PBV3	Silent	SNP	NULL	p.L202	ENST00000452271.2	37	c.606	CCDS54253.1	19																																																																																			SBSN	-	NULL		0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3	C	NM_198538		36017549	-1	no_errors	ENST00000518157	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36017549	C	T	36017549	2	4	153	1	0	0	0	0	0	0	0	1	13894	813	29	1		1	SBSN	19	36017549	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	20667	36017549	23111434	1236	27210										
ARHGAP33	115703	genome.wustl.edu	37	chr19	36277396	36277396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccagcacctgctggctcctGcgagagcctgtcctcgtcct	10	18	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36277396G>A	ENST00000007510.4	+	20	2168	c.2024G>A	c.(2023-2025)tGc>tAc	p.C675Y	ARHGAP33_ENST00000314737.5_Intron|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.C539Y			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	675					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTGGCTCCTGCGAGAGCCTG	0.677																																																	0																																										SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2024G>A	19.37:g.36277396G>A	ENSP00000007510:p.Cys675Tyr		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.C675Y	ENST00000007510.4	37	c.2024		19	.	.	.	.	.	.	.	.	.	.	G	4.337	0.061969	0.08339	.	.	ENSG00000004777	ENST00000007510;ENST00000378944	T;T	0.07800	3.16;3.2	4.7	4.7	0.59300	.	0.372731	0.25909	N	0.027514	T	0.18383	0.0441	L	0.43923	1.385	0.40930	D	0.984387	D;D	0.69078	0.995;0.997	P;D	0.65010	0.795;0.931	T	0.00359	-1.1791	10	0.56958	D	0.05	.	11.7427	0.51803	0.0:0.0:0.8234:0.1766	.	675;539	O14559;O14559-10	RHG33_HUMAN;.	Y	675;539	ENSP00000007510:C675Y;ENSP00000368227:C539Y	ENSP00000007510:C675Y	C	+	2	0	ARHGAP33	40969236	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	4.598000	0.61069	2.434000	0.82447	0.650000	0.86243	TGC	ARHGAP33	-	NULL		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		G	NM_052948		36277396	1	no_errors	ENST00000007510	ensembl	human	known	70_37	missense	SNP	0.999	A	A	36277396	G	A	36277396	3	1	153	1	0	0	0	0	1	0	0	0	882	1319	46	4	2102	4	ARHGAP33	19	36277396	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	259847	36277396	22851587	1237	27211										
NPHS1	4868	genome.wustl.edu	37	chr19	36317448	36317448	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccctcagctcgaagggcaGagaatcgggttccagagtgt	13	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36317448G>T	ENST00000378910.5	-	29	3693	c.3694C>A	c.(3694-3696)Ctg>Atg	p.L1232M	NPHS1_ENST00000353632.6_Missense_Mutation_p.L1192M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1232	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGAAGGGCAGAGAATCGGGT	0.552																																																	0													82	74	77					19																	36317448		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3694C>A	19.37:g.36317448G>T	ENSP00000368190:p.Leu1232Met		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1232M	ENST00000378910.5	37	c.3694	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708801	0.48517	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;D	0.84660	-1.34;-1.88	4.83	1.38	0.22167	.	0.320705	0.24336	N	0.039414	T	0.77909	0.4201	L	0.32530	0.975	0.09310	N	0.999998	P	0.52577	0.954	P	0.49502	0.613	T	0.67573	-0.5636	10	0.44086	T	0.13	-4.4423	3.6701	0.08270	0.0919:0.1654:0.5718:0.1709	.	1232	O60500	NPHN_HUMAN	M	1232;1192	ENSP00000368190:L1232M;ENSP00000343634:L1192M	ENSP00000343634:L1192M	L	-	1	2	NPHS1	41009288	0.998000	0.40836	0.792000	0.32020	0.728000	0.41692	1.753000	0.38359	0.644000	0.30656	0.644000	0.83932	CTG	NPHS1	-	NULL		0.552	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	G			36317448	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	missense	SNP	0.274	T	T	36317448	G	T	36317448	3	4	153	1	0	0	0	0	1	0	0	0	10606	933	33	3	35	3	NPHS1	19	36317448	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	40052	36317448	22811535	1238	27212										
NPHS1	4868	genome.wustl.edu	37	chr19	36322209	36322209	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccacttaccgtggagctctGagtgtcccgctctcctgtcc	9	17	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36322209G>C	ENST00000378910.5	-	26	3375	c.3376C>G	c.(3376-3378)Cag>Gag	p.Q1126E	NPHS1_ENST00000353632.6_Missense_Mutation_p.Q1086E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1126					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGAGCTCTGAGTGTCCCGC	0.592																																																	0													85	78	80					19																	36322209		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3376C>G	19.37:g.36322209G>C	ENSP00000368190:p.Gln1126Glu		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q1126E	ENST00000378910.5	37	c.3376	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	0.520	-0.862453	0.02610	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.71579	-0.56;-0.58	5.07	1.68	0.24146	.	0.614000	0.16430	N	0.214785	T	0.47266	0.1436	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.32981	-0.9886	10	0.49607	T	0.09	0.0122	3.4465	0.07482	0.0926:0.1629:0.5629:0.1816	.	1126	O60500	NPHN_HUMAN	E	1126;1086	ENSP00000368190:Q1126E;ENSP00000343634:Q1086E	ENSP00000343634:Q1086E	Q	-	1	0	NPHS1	41014049	0.075000	0.21258	0.003000	0.11579	0.001000	0.01503	1.316000	0.33620	0.285000	0.22329	-0.555000	0.04198	CAG	NPHS1	-	NULL		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	G			36322209	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	missense	SNP	0.001	C	C	36322209	G	C	36322209	3	2	153	1	0	0	0	0	1	0	0	0	10606	1299	45	1	365	1	NPHS1	19	36322209	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4761	36322209	22806774	1239	27213										
ZNF585A	199704	genome.wustl.edu	37	chr19	37643544	37643544	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcaagtgtgccttctgaatGaaggccagtccacatttcat	8	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37643544G>A	ENST00000356958.4	-	5	1515	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.F364F|ZNF585A_ENST00000292841.5_Silent_p.F364F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTCTGAATGAAGGCCAGTC	0.418																																																	0													117	112	114					19																	37643544		2203	4300	6503	SO:0001819	synonymous_variant	199704			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1257C>T	19.37:g.37643544G>A			Q8TE95|Q96MV3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F419	ENST00000356958.4	37	c.1257		19																																																																																			ZNF585A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	G	NM_152655		37643544	-1	no_errors	ENST00000356958	ensembl	human	known	70_37	silent	SNP	0.006	A	A	37643544	G	A	37643544	2	1	153	1	0	0	0	0	0	0	0	1	18047	1281	45	1		1	ZNF585A	19	37643544	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1321335	37643544	21485439	1240	27214										
ZNF383	163087	genome.wustl.edu	37	chr19	37733538	37733538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgcaaaacaactgggatatCcaaatgggcattttagtcaa	8	7	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37733538C>T	ENST00000589413.1	+	8	983	c.400C>T	c.(400-402)Cca>Tca	p.P134S	ZNF383_ENST00000352998.3_Missense_Mutation_p.P134S|ZNF383_ENST00000590503.1_Missense_Mutation_p.P134S			Q8NA42	ZN383_HUMAN	zinc finger protein 383	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGGATATCCAAATGGGCA	0.378																																																	0													103	113	110					19																	37733538		2202	4300	6502	SO:0001583	missense	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.400C>T	19.37:g.37733538C>T	ENSP00000464871:p.Pro134Ser		Q6X2C7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P134S	ENST00000589413.1	37	c.400	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841827	0.16963	.	.	ENSG00000188283	ENST00000352998	T	0.05855	3.38	3.48	2.42	0.29668	.	.	.	.	.	T	0.04227	0.0117	N	0.12182	0.205	0.21499	N	0.999664	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	9	0.41790	T	0.15	.	10.0734	0.42347	0.202:0.798:0.0:0.0	.	134	Q8NA42	ZN383_HUMAN	S	134	ENSP00000340132:P134S	ENSP00000340132:P134S	P	+	1	0	ZNF383	42425378	0.543000	0.26434	0.950000	0.38849	0.735000	0.41995	1.033000	0.30191	0.791000	0.33826	0.563000	0.77884	CCA	ZNF383	-	NULL		0.378	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	C	NM_152604		37733538	1	no_errors	ENST00000352998	ensembl	human	known	70_37	missense	SNP	0.971	T	T	37733538	C	T	37733538	3	4	153	1	0	0	0	0	1	0	0	0	17904	855	30	1	414	1	ZNF383	19	37733538	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	89994	37733538	21395445	1241	27215										
ZNF527	84503	genome.wustl.edu	37	chr19	37880761	37880761	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttagacgacatcagagaattCataatagagaaacgctctga	8	7	3	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37880761C>T	ENST00000436120.2	+	5	1917	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATAATAGAGA	0.343																																																	0													52	53	53					19																	37880761		1954	4174	6128	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1810C>T	19.37:g.37880761C>T	ENSP00000390179:p.His604Tyr		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H604Y	ENST00000436120.2	37	c.1810	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410340	0.62399	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.91	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35436	N	0.003203	D	0.84488	0.5483	M	0.92880	3.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	D	0.87925	0.2706	9	0.66056	D	0.02	.	12.9322	0.58292	0.0:1.0:0.0:0.0	.	604;572	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Y	604;572;552	.	ENSP00000325231:H572Y	H	+	1	0	ZNF527	42572601	0.999000	0.42202	0.947000	0.38551	0.756000	0.42949	4.149000	0.58091	2.033000	0.60031	0.655000	0.94253	CAT	ZNF527	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	C	NM_032453		37880761	1	no_errors	ENST00000436120	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37880761	C	T	37880761	3	4	153	1	0	0	0	0	1	0	0	0	17998	826	29	1	1824	1	ZNF527	19	37880761	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	147223	37880761	21248222	1242	27216										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38684202	38684202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accgcagaagggcctgcagcGgacgctgtcggacgagagcc	16	13	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38684202G>A	ENST00000222345.6	+	18	5131	c.4622G>A	c.(4621-4623)cGg>cAg	p.R1541Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1541					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCTGCAGCGGACGCTGTCG	0.692																																																	0													12	14	13					19																	38684202		2191	4288	6479	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4622G>A	19.37:g.38684202G>A	ENSP00000222345:p.Arg1541Gln		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.R1541Q	ENST00000222345.6	37	c.4622	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563460	0.86335	.	.	ENSG00000105738	ENST00000222345	T	0.61627	0.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.58810	1.83	0.52099	D	0.999943	D	0.59357	0.985	P	0.55303	0.773	T	0.71203	-0.4662	10	0.72032	D	0.01	-35.7883	18.4718	0.90777	0.0:0.0:1.0:0.0	.	1541	O60292	SI1L3_HUMAN	Q	1541	ENSP00000222345:R1541Q	ENSP00000222345:R1541Q	R	+	2	0	SIPA1L3	43376042	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	6.424000	0.73366	2.733000	0.93635	0.561000	0.74099	CGG	SIPA1L3	-	pfam_DUF3401		0.692	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38684202	1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38684202	G	A	38684202	3	1	153	1	0	0	0	0	1	0	0	0	14361	1116	39	2	4684	2	SIPA1L3	19	38684202	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	803441	38684202	20444781	1243	27217										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38684216	38684216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcagcggacgctgtcggacGagagcctgtgcagcgggcgc	18	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38684216G>A	ENST00000222345.6	+	18	5145	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1546					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTGTCGGACGAGAGCCTGTG	0.692																																																	0													10	11	11					19																	38684216		2176	4277	6453	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4636G>A	19.37:g.38684216G>A	ENSP00000222345:p.Glu1546Lys		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E1546K	ENST00000222345.6	37	c.4636	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605015	0.87157	.	.	ENSG00000105738	ENST00000222345	T	0.59772	0.24	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.71871	2.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.76356	-0.2989	10	0.54805	T	0.06	-40.8178	18.1473	0.89662	0.0:0.0:1.0:0.0	.	1546	O60292	SI1L3_HUMAN	K	1546	ENSP00000222345:E1546K	ENSP00000222345:E1546K	E	+	1	0	SIPA1L3	43376056	1.000000	0.71417	0.966000	0.40874	0.210000	0.24377	8.201000	0.89735	2.664000	0.90586	0.561000	0.74099	GAG	SIPA1L3	-	pfam_DUF3401		0.692	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38684216	1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38684216	G	A	38684216	3	1	153	1	0	0	0	0	1	0	0	0	14361	1059	37	1	4698	1	SIPA1L3	19	38684216	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	14	38684216	20444767	1244	27218										
GGN	199720	genome.wustl.edu	37	chr19	38876431	38876431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggatggggccggggcctggtCggcggctaaggctgggggca	23	9	0	0	rs200124007	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38876431C>T	ENST00000334928.6	-	3	1603	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	491	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ggggcctggtcggcggctaag	0.771													C|||	12	0.00239617	0	0.0043	5008	,	,		9570	0		0.0089	False		,,,				2504	0																0													3	4	3					19																	38876431		1606	3371	4977	SO:0001583	missense	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1471G>A	19.37:g.38876431C>T	ENSP00000334940:p.Asp491Asn		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.D491N	ENST00000334928.6	37	c.1471	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699139	0.48307	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.16	0.83	0.18854	.	0.208595	0.23987	N	0.042604	T	0.17916	0.0430	N	0.24115	0.695	0.09310	N	1	B;B	0.20459	0.045;0.045	B;B	0.11329	0.006;0.006	T	0.13045	-1.0524	9	0.23302	T	0.38	-2.0573	3.7995	0.08753	0.2365:0.6282:0.0:0.1353	.	408;491	Q86UU5-2;Q86UU5	.;GGN_HUMAN	N	491	.	ENSP00000334940:D491N	D	-	1	0	GGN	43568271	0.019000	0.18553	0.001000	0.08648	0.547000	0.35210	1.803000	0.38863	0.150000	0.19136	0.455000	0.32223	GAC	GGN	-	NULL		0.771	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	C	NM_152657		38876431	-1	no_errors	ENST00000334928	ensembl	human	known	70_37	missense	SNP	0.002	T	T	38876431	C	T	38876431	3	4	153	1	0	0	0	0	1	0	0	0	6377	884	31	1	495	1	GGN	19	38876431	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	192215	38876431	20252552	1245	27219										
RYR1	6261	genome.wustl.edu	37	chr19	38949865	38949865	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcagctgctgcctggacctCagcgtgccgtccatctcctt	9	16	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38949865C>T	ENST00000359596.3	+	19	2247	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	RYR1_ENST00000360985.3_Silent_p.L749L|RYR1_ENST00000355481.4_Silent_p.L749L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	749	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCTGGACCTCAGCGTGCCGT	0.612																																																	0													117	93	101					19																	38949865		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2247C>T	19.37:g.38949865C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L749	ENST00000359596.3	37	c.2247	CCDS33011.1	19																																																																																			RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38949865	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.885	T	T	38949865	C	T	38949865	2	4	153	1	0	0	0	0	0	0	0	1	13798	813	29	1		1	RYR1	19	38949865	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	73434	38949865	20179118	1246	27220										
ACTN4	81	genome.wustl.edu	37	chr19	39217615	39217615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcacatccgcgtgggctggGagcagctgctcaccaccatt	12	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:39217615G>A	ENST00000252699.2	+	18	2285	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	ACTN4_ENST00000424234.2_Missense_Mutation_p.E347K|ACTN4_ENST00000390009.3_Missense_Mutation_p.E518K	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	737	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTGGGCTGGGAGCAGCTGCT	0.627																																					Colon(168;199 1940 10254 46213 46384)												0													87	65	72					19																	39217615		2203	4300	6503	SO:0001583	missense	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2209G>A	19.37:g.39217615G>A	ENSP00000252699:p.Glu737Lys		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E737K	ENST00000252699.2	37	c.2209	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626657	0.87560	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.14	4.14	0.48551	.	0.065655	0.64402	N	0.000016	T	0.71829	0.3386	M	0.86953	2.85	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.77874	-0.2425	10	0.59425	D	0.04	.	15.7038	0.77563	0.0:0.0:1.0:0.0	.	737	O43707	ACTN4_HUMAN	K	737;347;518;173	ENSP00000252699:E737K;ENSP00000411187:E347K;ENSP00000439497:E518K;ENSP00000398393:E173K	ENSP00000252699:E737K	E	+	1	0	ACTN4	43909455	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.601000	0.98297	2.294000	0.77228	0.561000	0.74099	GAG	ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.627	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	G			39217615	1	no_errors	ENST00000252699	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39217615	G	A	39217615	3	1	153	1	0	0	0	0	1	0	0	0	207	1175	41	1	2279	1	ACTN4	19	39217615	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	267750	39217615	19911368	1247	27221										
PAF1	55588	genome.wustl.edu	37	chr19	39880311	39880311	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgcggtaggtgtcaggattGatgagatcgatggtgacccc	15	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:39880311G>C	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Missense_Mutation_p.I77M|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.I77M|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.I87M			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGTCAGGATTGATGAGATCGA	0.582																																																	0													157	129	139					19																	39880311		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880311G>C	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.I87M	ENST00000599213.2	37	c.261		19	.	.	.	.	.	.	.	.	.	.	g	18.21	3.574553	0.65878	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.29	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.76634	-0.2887	9	0.62326	D	0.03	-23.6064	10.0809	0.42388	0.093:0.0:0.907:0.0	.	77;87	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	M	87;77	.	ENSP00000221265:I87M	I	-	3	3	PAF1	44572151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.496000	0.60360	2.752000	0.94435	0.558000	0.71614	ATC	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.582	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	G	XM_290829		39880311	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39880311	G	C	39880311	1	2	153	0	1	0	0	0	0	0	0	0	11407	1280	45	1		1	PAF1	19	39880311	5'Flank	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	662696	39880311	19248672	1248	27222										
FCGBP	8857	genome.wustl.edu	37	chr19	40368436	40368436	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgtccagaacacagcccttGaagaagctctcaggtggcac	10	13	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:40368436G>A	ENST00000221347.6	-	28	12919	c.12912C>T	c.(12910-12912)ttC>ttT	p.F4304F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4304						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCCTTGAAGAAGCTCT	0.627																																																	0													115	113	114					19																	40368436		2203	4298	6501	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12912C>T	19.37:g.40368436G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F4304	ENST00000221347.6	37	c.12912	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40368436	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.990	A	A	40368436	G	A	40368436	2	1	153	1	0	0	0	0	0	0	0	1	5796	1281	45	1		1	FCGBP	19	40368436	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	488125	40368436	18760547	1249	27223										
ZNF546	339327	genome.wustl.edu	37	chr19	40513284	40513284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caaggatgtgatgttggagaActacagcaacctggtctcac	11	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:40513284A>G	ENST00000347077.4	+	5	491	c.275A>G	c.(274-276)aAc>aGc	p.N92S	ZNF546_ENST00000600094.1_Missense_Mutation_p.N66S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATGTTGGAGAACTACAGCAAC	0.463																																																	0													158	135	143					19																	40513284		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.275A>G	19.37:g.40513284A>G	ENSP00000339823:p.Asn92Ser		A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N92S	ENST00000347077.4	37	c.275	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	a	11.81	1.750803	0.31046	.	.	ENSG00000187187	ENST00000347077	T	0.03635	3.86	2.83	0.482	0.16815	Krueppel-associated box (4);	.	.	.	.	T	0.06554	0.0168	M	0.85299	2.745	0.22389	N	0.999146	B;B	0.10296	0.003;0.003	B;B	0.18871	0.013;0.023	T	0.38478	-0.9659	9	0.72032	D	0.01	.	2.153	0.03805	0.4909:0.0:0.2776:0.2315	.	66;92	B3KVL3;Q86UE3	.;ZN546_HUMAN	S	92	ENSP00000339823:N92S	ENSP00000339823:N92S	N	+	2	0	ZNF546	45205124	0.064000	0.20934	0.104000	0.21259	0.891000	0.51852	0.211000	0.17474	-0.094000	0.12374	0.450000	0.29827	AAC	ZNF546	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.463	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	A	NM_178544		40513284	1	no_errors	ENST00000347077	ensembl	human	known	70_37	missense	SNP	0.909	G	G	40513284	A	G	40513284	3	3	153	1	0	0	0	0	1	0	0	0	18008	43	2	5	285	5	ZNF546	19	40513284	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	144848	40513284	18615699	1250	27224										
CYP2A6	1548	genome.wustl.edu	37	chr19	41354584	41354584	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggatgcgctcctcgatgcctCgcttgcccaccccgaagtcc	10	18	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:41354584C>G	ENST00000301141.5	-	3	448	c.428G>C	c.(427-429)cGa>cCa	p.R143P	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	143					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCGATGCCTCGCTTGCCCAC	0.701																																																	0													38	41	40					19																	41354584		2203	4299	6502	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.428G>C	19.37:g.41354584C>G	ENSP00000301141:p.Arg143Pro		A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R143P	ENST00000301141.5	37	c.428	CCDS12568.1	19	.	.	.	.	.	.	.	.	.	.	-	14.07	2.424445	0.43020	.	.	ENSG00000255974	ENST00000301141	T	0.01414	4.92	2.95	1.85	0.25348	.	0.058520	0.64402	U	0.000006	T	0.02193	0.0068	M	0.61703	1.905	0.09310	N	0.999998	B	0.34255	0.445	B	0.37015	0.239	T	0.34625	-0.9821	10	0.87932	D	0	.	7.111	0.25390	0.0:0.7641:0.0:0.2359	.	143	P11509	CP2A6_HUMAN	P	143	ENSP00000301141:R143P	ENSP00000301141:R143P	R	-	2	0	CYP2A6	46046424	0.000000	0.05858	0.364000	0.25888	0.342000	0.28953	0.273000	0.18662	1.487000	0.48415	0.386000	0.25728	CGA	CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.701	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	C	NM_000762		41354584	-1	no_errors	ENST00000301141	ensembl	human	known	70_37	missense	SNP	0.135	G	G	41354584	C	G	41354584	3	3	153	1	0	0	0	0	1	0	0	0	4167	884	31	1	1084	1	CYP2A6	19	41354584	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	841300	41354584	17774399	1251	27225										
CEACAM5	1048	genome.wustl.edu	37	chr19	42221434	42221434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccccgtggaggatgaggatgCtgtagccttaacctgtgaac	13	10	0	2	rs10407503	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:42221434C>T	ENST00000221992.6	+	5	1133	c.1019C>T	c.(1018-1020)gCt>gTt	p.A340V	CEACAM5_ENST00000398599.4_Missense_Mutation_p.A339V|CEACAM5_ENST00000405816.1_Missense_Mutation_p.A340V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	340	Ig-like 4.		A -> D (in dbSNP:rs10407503).		homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GATGAGGATGCTGTAGCCTTA	0.532																																																	0													161	157	158					19																	42221434		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1019C>T	19.37:g.42221434C>T	ENSP00000221992:p.Ala340Val		H9KVA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A340V	ENST00000221992.6	37	c.1019	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	4.379	0.069841	0.08436	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.42513	0.97;0.97	2.77	0.373	0.16178	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36552	0.0971	L	0.39898	1.24	0.80722	P	0.0	B;B	0.27498	0.18;0.132	B;B	0.43386	0.292;0.418	T	0.48885	-0.8995	8	0.23302	T	0.38	.	2.5457	0.04736	0.2933:0.5339:0.0:0.1728	.	340;340	P06731;Q53G30	CEAM5_HUMAN;.	V	340	ENSP00000221992:A340V;ENSP00000385072:A340V	ENSP00000221992:A340V	A	+	2	0	CEACAM5	46913274	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	0.724000	0.25954	0.378000	0.24764	0.479000	0.44913	GCT	CEACAM5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	C	NM_004363		42221434	1	no_errors	ENST00000221992	ensembl	human	known	70_37	missense	SNP	0.001	T	T	42221434	C	T	42221434	3	4	153	1	0	0	0	0	1	0	0	0	3200	797	28	4	1037	4	CEACAM5	19	42221434	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	866850	42221434	16907549	1252	27226										
PRR19	284338	genome.wustl.edu	37	chr19	42814499	42814499	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatcaagtcccagagcaggaGaggcaaaggaagcaacaagg	14	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:42814499G>C	ENST00000499536.2	+	2	1489	c.678G>C	c.(676-678)gaG>gaC	p.E226D	TMEM145_ENST00000301204.3_5'Flank|PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Missense_Mutation_p.E226D			A6NJB7	PRR19_HUMAN	proline rich 19	226										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CAGAGCAGGAGAGGCAAAGGA	0.567																																																	0													108	99	102					19																	42814499		2203	4300	6503	SO:0001583	missense	284338			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.678G>C	19.37:g.42814499G>C	ENSP00000445247:p.Glu226Asp		A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	NULL	p.E226D	ENST00000499536.2	37	c.678	CCDS33036.1	19	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.043070	0.01997	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.62	2.57	0.30868	.	0.526148	0.14248	U	0.331616	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	0.999997	B	0.27732	0.187	B	0.24155	0.051	T	0.21484	-1.0244	9	0.12430	T	0.62	-0.0878	6.9566	0.24574	0.1259:0.0:0.8741:0.0	.	226	A6NJB7	PRR19_HUMAN	D	226	.	ENSP00000342709:E226D	E	+	3	2	PRR19	47506339	0.773000	0.28580	0.559000	0.28332	0.021000	0.10359	0.187000	0.16998	1.082000	0.41137	0.563000	0.77884	GAG	PRR19	-	NULL		0.567	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR19	HGNC	protein_coding	OTTHUMT00000463735.1	G	NM_199285		42814499	1	no_errors	ENST00000341747	ensembl	human	known	70_37	missense	SNP	0.595	C	C	42814499	G	C	42814499	3	2	153	1	0	0	0	0	1	0	0	0	12618	933	33	1	684	1	PRR19	19	42814499	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	593065	42814499	16314484	1253	27227										
CEACAM1	634	genome.wustl.edu	37	chr19	43016551	43016551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgccagggctactgctatcaGagcaaccagggccactactc	10	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:43016551G>A	ENST00000161559.6	-	6	1461	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	CEACAM1_ENST00000358394.3_Silent_p.L378L|CEACAM1_ENST00000351134.3_Silent_p.L169L|CEACAM1_ENST00000488639.2_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Silent_p.L347L|CEACAM1_ENST00000403444.3_Silent_p.L443L|CEACAM1_ENST00000352591.5_Silent_p.L347L|CEACAM1_ENST00000308072.4_Silent_p.L338L|CEACAM1_ENST00000599389.1_Silent_p.L378L|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	443					angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTGCTATCAGAGCAACCAGG	0.512																																																	0													85	70	75					19																	43016551		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1327C>T	19.37:g.43016551G>A			A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L443	ENST00000161559.6	37	c.1327	CCDS12609.1	19																																																																																			CEACAM1	-	NULL		0.512	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	G	NM_001712		43016551	-1	no_errors	ENST00000161559	ensembl	human	known	70_37	silent	SNP	0.001	A	A	43016551	G	A	43016551	2	1	153	1	0	0	0	0	0	0	0	1	3192	933	33	1		1	CEACAM1	19	43016551	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	202052	43016551	16112432	1254	27228										
ZNF224	7767	genome.wustl.edu	37	chr19	44610712	44610712	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaaggtgatttcccctgccaGactgaggcaggactatctgt	12	10	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44610712G>C	ENST00000336976.6	+	6	653	c.399G>C	c.(397-399)caG>caC	p.Q133H	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	133					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCCCTGCCAGACTGAGGCAG	0.418																																																	0													95	94	94					19																	44610712		2203	4300	6503	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.399G>C	19.37:g.44610712G>C	ENSP00000337368:p.Gln133His		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q133H	ENST00000336976.6	37	c.399	CCDS33046.1	19	.	.	.	.	.	.	.	.	.	.	g	6.161	0.397929	0.11696	.	.	ENSG00000186019	ENST00000336976	T	0.06294	3.32	2.47	-2.72	0.05968	.	.	.	.	.	T	0.06371	0.0164	L	0.54323	1.7	0.09310	N	1	B	0.28324	0.207	B	0.31337	0.128	T	0.38156	-0.9674	9	0.40728	T	0.16	.	4.1312	0.10149	0.3569:0.1767:0.4665:0.0	.	133	Q9NZL3	ZN224_HUMAN	H	133	ENSP00000337368:Q133H	ENSP00000337368:Q133H	Q	+	3	2	ZNF224	49302552	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.831000	0.00743	-0.518000	0.06452	-0.282000	0.10007	CAG	ZNF224	-	NULL		0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF224	HGNC	protein_coding	OTTHUMT00000460477.1	G	NM_013398		44610712	1	no_errors	ENST00000336976	ensembl	human	known	70_37	missense	SNP	0.000	C	C	44610712	G	C	44610712	3	2	153	1	0	0	0	0	1	0	0	0	17808	933	33	1	413	1	ZNF224	19	44610712	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1594161	44610712	14518271	1255	27229										
ZNF234	10780	genome.wustl.edu	37	chr19	44660812	44660812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtgtggtaaggaatttagtCagagctcacatcttcaaact	9	7	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44660812C>G	ENST00000426739.2	+	6	901	c.643C>G	c.(643-645)Cag>Gag	p.Q215E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q215E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAATTTAGTCAGAGCTCACA	0.418																																																	0													141	142	142					19																	44660812		2203	4300	6503	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.643C>G	19.37:g.44660812C>G	ENSP00000400878:p.Gln215Glu		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q215E	ENST00000426739.2	37	c.643	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812081	0.32053	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.07327	3.2	4.19	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	L	0.35249	1.045	0.09310	N	1	P	0.46327	0.876	B	0.41988	0.372	T	0.28650	-1.0037	9	0.42905	T	0.14	.	6.3318	0.21274	0.1828:0.7198:0.0:0.0974	.	215	Q14588	ZN234_HUMAN	E	215;44	ENSP00000400878:Q215E	ENSP00000400878:Q215E	Q	+	1	0	ZNF226	49352652	0.000000	0.05858	0.063000	0.19743	0.723000	0.41478	-0.288000	0.08377	1.110000	0.41699	0.586000	0.80456	CAG	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	C			44660812	1	no_errors	ENST00000426739	ensembl	human	known	70_37	missense	SNP	0.015	G	G	44660812	C	G	44660812	3	3	153	1	0	0	0	0	1	0	0	0	17817	827	29	1	657	1	ZNF234	19	44660812	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	50100	44660812	14468171	1256	27230										
ZNF233	353355	genome.wustl.edu	37	chr19	44777789	44777789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggtgagggcttcagtcagGgctcacatctgcaacctcat	12	11	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44777789G>A	ENST00000391958.2	+	5	1103	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.G308S|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTTCAGTCAGGGCTCACATCT	0.522																																																	0													79	71	74					19																	44777789		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.976G>A	19.37:g.44777789G>A	ENSP00000375820:p.Gly326Ser		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G326S	ENST00000391958.2	37	c.976	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	0.669	-0.802705	0.02841	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.13307	2.6;2.6	3.71	0.232	0.15381	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02455	0.0075	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	9	0.02654	T	1	-0.8126	3.7581	0.08593	0.5917:0.1897:0.2186:0.0	.	326	A6NK53	ZN233_HUMAN	S	308;326;247	ENSP00000334957:G308S;ENSP00000375820:G326S	ENSP00000280305:G247S	G	+	1	0	ZNF233	49469629	0.000000	0.05858	0.003000	0.11579	0.307000	0.27823	-0.176000	0.09811	-0.128000	0.11641	-0.320000	0.08662	GGC	ZNF233	-	NULL		0.522	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	G	NM_181756		44777789	1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	0.000	A	A	44777789	G	A	44777789	3	1	153	1	0	0	0	0	1	0	0	0	17816	1232	43	4	990	4	ZNF233	19	44777789	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	116977	44777789	14351194	1257	27231										
NKPD1	284353	genome.wustl.edu	37	chr19	45655990	45655990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgccagcagctgcgcgctctCgcccccggcgtcccccggca	12	22	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:45655990C>T	ENST00000438936.2	-	3	1250	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	NKPD1_ENST00000317951.4_Missense_Mutation_p.E569K|NKPD1_ENST00000429338.1_Missense_Mutation_p.E347K|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.E347K			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	347	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGCGCGCTCTCGCCCCCGGCG	0.731																																																	0													6	6	6					19																	45655990		1788	3808	5596	SO:0001583	missense	284353			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1039G>A	19.37:g.45655990C>T	ENSP00000401739:p.Glu347Lys		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.E569K	ENST00000438936.2	37	c.1705		19	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912817	0.52439	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.28895	1.59;1.59;1.59	5.4	5.4	0.78164	KAP P-loop (1);	0.392581	0.25848	N	0.027904	T	0.27027	0.0662	L	0.47716	1.5	0.42538	D	0.993068	B	0.33748	0.423	B	0.29176	0.099	T	0.05273	-1.0895	10	0.17369	T	0.5	-25.4322	16.6651	0.85250	0.0:1.0:0.0:0.0	.	347	Q17RQ9	NKPD1_HUMAN	K	569;347;347	ENSP00000321976:E569K;ENSP00000401739:E347K;ENSP00000404706:E347K	ENSP00000321976:E569K	E	-	1	0	NKPD1	50347830	0.955000	0.32602	0.567000	0.28434	0.581000	0.36288	1.288000	0.33296	2.534000	0.85438	0.462000	0.41574	GAG	NKPD1	-	pfam_KAP_NTPase		0.731	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	C	NM_198478		45655990	-1	no_errors	ENST00000317951	ensembl	human	known	70_37	missense	SNP	0.932	T	T	45655990	C	T	45655990	3	4	153	1	0	0	0	0	1	0	0	0	10470	893	31	1	797	1	NKPD1	19	45655990	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	878201	45655990	13472993	1258	27232										
FBXO46	23403	genome.wustl.edu	37	chr19	46216318	46216318	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccctcccggccccctgggtCaggaggagccttggtggggt	17	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:46216318C>G	ENST00000317683.3	-	2	569	c.436G>C	c.(436-438)Gac>Cac	p.D146H		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	146										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCCCCTGGGTCAGGAGGAGCC	0.706																																																	0													8	9	9					19																	46216318		1869	4052	5921	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.436G>C	19.37:g.46216318C>G	ENSP00000410007:p.Asp146His			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D146H	ENST00000317683.3	37	c.436	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	c	9.087	1.000669	0.19121	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.19575	N	0.999969	B	0.13145	0.007	B	0.10450	0.005	T	0.15780	-1.0425	8	0.62326	D	0.03	-13.9492	11.6859	0.51485	0.0:1.0:0.0:0.0	.	146	Q6PJ61	FBX46_HUMAN	H	146	.	ENSP00000410007:D146H	D	-	1	0	FBXO46	50908158	0.084000	0.21492	0.885000	0.34714	0.072000	0.16883	0.977000	0.29475	2.202000	0.70862	0.558000	0.71614	GAC	FBXO46	-	NULL		0.706	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	C	XM_371179		46216318	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.530	G	G	46216318	C	G	46216318	3	3	153	1	0	0	0	0	1	0	0	0	5773	826	29	1	1379	1	FBXO46	19	46216318	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	560328	46216318	12912665	1259	27233										
HIF3A	64344	genome.wustl.edu	37	chr19	46807342	46807342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcatgcaccgcctctgcgccGcaggtgagccccgcccgcgg	14	19	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:46807342G>A	ENST00000377670.4	+	2	245	c.214G>A	c.(214-216)Gca>Aca	p.A72T	HIF3A_ENST00000600383.1_Silent_p.P51P|HIF3A_ENST00000472815.1_Silent_p.P51P|HIF3A_ENST00000244303.6_Silent_p.P51P|HIF3A_ENST00000300862.3_Missense_Mutation_p.A70T|HIF3A_ENST00000339613.2_Missense_Mutation_p.A16T|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Silent_p.P69P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	72					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTCTGCGCCGCAGGTGAGCC	0.662																																																	0													4	6	5					19																	46807342		2127	4159	6286	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.214G>A	19.37:g.46807342G>A	ENSP00000366898:p.Ala72Thr		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.A72T	ENST00000377670.4	37	c.214	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041509	0.35989	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000472815;ENST00000291300;ENST00000300862	T;T;T	0.56611	0.52;0.45;0.52	4.68	3.64	0.41730	Helix-loop-helix DNA-binding (2);	0.352724	0.20785	N	0.085727	T	0.28101	0.0693	N	0.12637	0.245	0.38939	D	0.958113	P;P;P;P;B	0.43314	0.803;0.703;0.703;0.663;0.271	B;B;B;B;B	0.32724	0.151;0.048;0.072;0.097;0.086	T	0.11690	-1.0577	10	0.21540	T	0.41	.	12.3565	0.55178	0.0:0.0:0.83:0.17	.	70;16;72;72;72	Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;HIF3A_HUMAN;.;.	T	72;72;72;72;16;93;16;70	ENSP00000366898:A72T;ENSP00000341877:A16T;ENSP00000300862:A70T	ENSP00000244302:A72T	A	+	1	0	HIF3A	51499182	0.009000	0.17119	1.000000	0.80357	0.510000	0.34073	0.410000	0.21098	1.331000	0.45412	-0.261000	0.10672	GCA	HIF3A	-	superfamily_HLH_dom,smart_HLH_dom		0.662	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	G			46807342	1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46807342	G	A	46807342	3	1	153	1	0	0	0	0	1	0	0	0	7125	1087	38	2	244	2	HIF3A	19	46807342	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	591024	46807342	12321641	1260	27234										
NPAS1	4861	genome.wustl.edu	37	chr19	47535576	47535576	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcagcgctggtctccgaagtCttcgagcagcacctgggagg	15	12	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:47535576C>G	ENST00000602212.1	+	4	619	c.399C>G	c.(397-399)gtC>gtG	p.V133V	NPAS1_ENST00000449844.2_Silent_p.V133V|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	133				LRAAGPPAGLAPGRRGPAALVSEVF -> NSRRPALRAAAA GARPAGGPGSQPP (in Ref. 6). {ECO:0000305}.	central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TCTCCGAAGTCTTCGAGCAGC	0.672											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42	49	47					19																	47535576		2203	4300	6503	SO:0001819	synonymous_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.399C>G	19.37:g.47535576C>G		947	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.V133	ENST00000602212.1	37	c.399	CCDS12694.1	19																																																																																			NPAS1	-	NULL		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	C	NM_002517		47535576	1	no_errors	ENST00000449844	ensembl	human	known	70_37	silent	SNP	1.000	G	G	47535576	C	G	47535576	2	3	153	1	0	0	0	0	0	0	0	1	10586	900	32	1		1	NPAS1	19	47535576	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	728234	47535576	11593407	1261	27235										
ZC3H4	23211	genome.wustl.edu	37	chr19	47593402	47593402	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccatcttggagtatgccttCttgggcaggggcgtggcatg	15	9	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:47593402C>G	ENST00000253048.5	-	5	574	c.537G>C	c.(535-537)aaG>aaC	p.K179N	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	179							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGTATGCCTTCTTGGGCAGGG	0.587																																																	0													127	125	125					19																	47593402		2113	4224	6337	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.537G>C	19.37:g.47593402C>G	ENSP00000253048:p.Lys179Asn		Q9Y420	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K179N	ENST00000253048.5	37	c.537	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276127	0.59649	.	.	ENSG00000130749	ENST00000253048	T	0.19938	2.11	5.74	5.74	0.90152	.	0.301794	0.30446	N	0.009615	T	0.38904	0.1058	L	0.50333	1.59	0.58432	D	0.999994	D	0.76494	0.999	D	0.80764	0.994	T	0.02533	-1.1145	10	0.41790	T	0.15	.	12.7607	0.57363	0.0:0.9212:0.0:0.0788	.	179	Q9UPT8	ZC3H4_HUMAN	N	179	ENSP00000253048:K179N	ENSP00000253048:K179N	K	-	3	2	ZC3H4	52285242	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.822000	0.39052	2.710000	0.92621	0.655000	0.94253	AAG	ZC3H4	-	NULL		0.587	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	C			47593402	-1	no_errors	ENST00000253048	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47593402	C	G	47593402	3	3	153	1	0	0	0	0	1	0	0	0	17600	912	32	1	3418	1	ZC3H4	19	47593402	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	57826	47593402	11535581	1262	27236										
LMTK3	114783	genome.wustl.edu	37	chr19	49013817	49013817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaggaccacagcgtagggagGagccagaggagcccggccca	17	12	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49013817G>A	ENST00000600059.1	-	2	336	c.109C>T	c.(109-111)Cct>Tct	p.P37S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P66S|CTC-273B12.10_ENST00000598924.1_lincRNA			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	37					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCGTAGGGAGGAGCCAGAGGA	0.637																																																	0													40	55	50					19																	49013817		2064	4200	6264	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.109C>T	19.37:g.49013817G>A	ENSP00000472020:p.Pro37Ser		Q4G0U1	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P66S	ENST00000600059.1	37	c.196		19	.	.	.	.	.	.	.	.	.	.	g	12.79	2.043435	0.36085	.	.	ENSG00000142235	ENST00000270238	T	0.76060	-0.99	3.95	3.95	0.45737	.	0.089065	0.43260	U	0.000594	T	0.54727	0.1876	N	0.10916	0.065	0.44899	D	0.997911	P	0.43094	0.799	B	0.43889	0.435	T	0.58725	-0.7586	10	0.02654	T	1	.	13.9365	0.64027	0.0:0.0:1.0:0.0	.	37	Q96Q04	LMTK3_HUMAN	S	66	ENSP00000270238:P66S	ENSP00000270238:P66S	P	-	1	0	LMTK3	53705629	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.933000	0.56545	2.223000	0.72356	0.282000	0.19409	CCT	LMTK3	-	NULL		0.637	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49013817	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49013817	G	A	49013817	3	1	153	1	0	0	0	0	1	0	0	0	8881	1174	41	1	4329	1	LMTK3	19	49013817	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1420415	49013817	10115166	1263	27237										
ALDH16A1	126133	genome.wustl.edu	37	chr19	49964112	49964112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catcctgccacccacattctCcttccttgagatgatgtgga	7	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49964112C>T	ENST00000293350.4	+	5	696	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.S15F|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.S13F|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S178F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	178						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCACATTCTCCTTCCTTGAG	0.537																																																	0													97	88	91					19																	49964112		2203	4299	6502	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.533C>T	19.37:g.49964112C>T	ENSP00000293350:p.Ser178Phe		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.S178F	ENST00000293350.4	37	c.533	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422501	0.62622	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.38	3.19	0.36642	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.350657	0.34133	N	0.004239	T	0.50120	0.1597	M	0.63843	1.955	0.33031	D	0.530151	D;D;D	0.76494	0.99;0.983;0.999	D;P;D	0.72075	0.935;0.876;0.976	T	0.64571	-0.6376	10	0.87932	D	0	-15.1426	12.6876	0.56956	0.0:0.6831:0.3169:0.0	.	15;178;178	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	F	178;178;15;13	ENSP00000293350:S178F;ENSP00000410142:S178F;ENSP00000445088:S15F;ENSP00000398675:S13F	ENSP00000293350:S178F	S	+	2	0	ALDH16A1	54655924	0.999000	0.42202	0.997000	0.53966	0.950000	0.60333	0.965000	0.29319	0.746000	0.32786	-0.291000	0.09656	TCC	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.537	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	C	NM_153329		49964112	1	no_errors	ENST00000293350	ensembl	human	known	70_37	missense	SNP	0.999	T	T	49964112	C	T	49964112	3	4	153	1	0	0	0	0	1	0	0	0	488	855	30	1	551	1	ALDH16A1	19	49964112	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	950295	49964112	9164871	1264	27238										
ALDH16A1	126133	genome.wustl.edu	37	chr19	49965835	49965835	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttcctcacagggtggcctCaggctcctcatccaggagtc	10	14	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49965835C>G	ENST00000293350.4	+	8	1084	c.921C>G	c.(919-921)ctC>ctG	p.L307L	ALDH16A1_ENST00000540132.1_Silent_p.L144L|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Silent_p.L142L|ALDH16A1_ENST00000455361.2_Silent_p.L256L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	307						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AGGGTGGCCTCAGGCTCCTCA	0.592																																																	0													67	71	69					19																	49965835		2203	4300	6503	SO:0001819	synonymous_variant	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.921C>G	19.37:g.49965835C>G			B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.L307	ENST00000293350.4	37	c.921	CCDS12766.1	19																																																																																			ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.592	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	C	NM_153329		49965835	1	no_errors	ENST00000293350	ensembl	human	known	70_37	silent	SNP	1.000	G	G	49965835	C	G	49965835	2	3	153	1	0	0	0	0	0	0	0	1	488	813	29	1		1	ALDH16A1	19	49965835	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1723	49965835	9163148	1265	27239										
BCL2L12	83596	genome.wustl.edu	37	chr19	50169213	50169213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctacgctgggccggttatCgacccggcccagtgcgcagg	14	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:50169213C>G	ENST00000246785.3	+	1	391	c.133C>G	c.(133-135)Cga>Gga	p.R45G	IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R45G|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R45G|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000597198.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	45					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GGCCGGTTATCGACCCGGCCC	0.592																																																	0													24	25	25					19																	50169213		2203	4300	6503	SO:0001583	missense	83596			AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.133C>G	19.37:g.50169213C>G	ENSP00000246785:p.Arg45Gly		Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	NULL	p.R45G	ENST00000246785.3	37	c.133	CCDS12776.1	19	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443421	0.25987	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.55234	0.74;0.74;0.53	3.62	2.57	0.30868	.	0.856397	0.09477	U	0.796873	T	0.31670	0.0804	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.20577	0.03;0.03	T	0.21724	-1.0237	10	0.49607	T	0.09	-0.4621	7.0056	0.24833	0.0:0.8742:0.0:0.1258	.	45;45	Q3SY13;Q9HB09	.;B2L12_HUMAN	G	45	ENSP00000246785:R45G;ENSP00000393803:R45G;ENSP00000246784:R45G	ENSP00000246784:R45G	R	+	1	2	BCL2L12	54861025	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.268000	0.18571	1.114000	0.41781	0.467000	0.42956	CGA	BCL2L12	-	NULL		0.592	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	HGNC	protein_coding	OTTHUMT00000465770.1	C	NM_052842		50169213	1	no_errors	ENST00000246785	ensembl	human	known	70_37	missense	SNP	0.001	G	G	50169213	C	G	50169213	3	3	153	1	0	0	0	0	1	0	0	0	1371	876	31	1	135	1	BCL2L12	19	50169213	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	203378	50169213	8959770	1266	27240										
MED25	81857	genome.wustl.edu	37	chr19	50339101	50339101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caggtgcccctcaaggccctCctggagcagcttctggccca	11	17	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:50339101C>T	ENST00000312865.6	+	16	1917	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	MED25_ENST00000538643.1_Missense_Mutation_p.P409S|PTOV1-AS1_ENST00000596521.1_RNA	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	622	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCAAGGCCCTCCTGGAGCAGC	0.716																																					GBM(51;894 1657 37868)												0													14	17	16					19																	50339101		2196	4276	6472	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1864C>T	19.37:g.50339101C>T	ENSP00000326767:p.Pro622Ser		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.P622S	ENST00000312865.6	37	c.1864	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932851	0.34096	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000536547	T;T	0.76448	-1.02;-1.02	5.01	3.98	0.46160	.	0.594483	0.18288	N	0.145796	T	0.60983	0.2311	N	0.19112	0.55	0.40588	D	0.981465	B;B;B	0.29862	0.259;0.259;0.259	B;B;B	0.23018	0.039;0.043;0.026	T	0.58929	-0.7549	10	0.32370	T	0.25	.	10.7	0.45922	0.0:0.9101:0.0:0.0899	.	409;622;622	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	S	622;622;622;622;601;409;357;111	ENSP00000326767:P622S;ENSP00000437496:P409S	ENSP00000326767:P622S	P	+	1	0	MED25	55030913	0.998000	0.40836	0.999000	0.59377	0.177000	0.22998	2.183000	0.42565	1.346000	0.45694	-0.373000	0.07131	CCT	MED25	-	NULL		0.716	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	C	NM_030973		50339101	1	no_errors	ENST00000312865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50339101	C	T	50339101	3	4	153	1	0	0	0	0	1	0	0	0	9466	855	30	1	1926	1	MED25	19	50339101	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	169888	50339101	8789882	1267	27241										
MYH14	79784	genome.wustl.edu	37	chr19	50781447	50781447	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgtcaggagggtgagcagcgGaggcgccgcctggagttaca	18	10	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:50781447G>A	ENST00000596571.1	+	27	3810	c.3810G>A	c.(3808-3810)cgG>cgA	p.R1270R	MYH14_ENST00000440075.2_Silent_p.R1311R|MYH14_ENST00000262269.8_Silent_p.R1311R|MYH14_ENST00000425460.1_Silent_p.R1278R|MYH14_ENST00000376970.2_Silent_p.R1303R|MYH14_ENST00000601313.1_Silent_p.R1311R|MYH14_ENST00000598205.1_Silent_p.R1278R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1270					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGAGCAGCGGAGGCGCCGCC	0.692																																																	0													20	27	24					19																	50781447		2070	4196	6266	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3810G>A	19.37:g.50781447G>A			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1311	ENST00000596571.1	37	c.3933	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_tail		0.692	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	G	NM_024729		50781447	1	no_errors	ENST00000262269	ensembl	human	known	70_37	silent	SNP	0.966	A	A	50781447	G	A	50781447	2	1	153	1	0	0	0	0	0	0	0	1	10056	1161	41	1		1	MYH14	19	50781447	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	442346	50781447	8347536	1268	27242										
SYT3	84258	genome.wustl.edu	37	chr19	51132706	51132706	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cagtttgcgttgggccagctCggccaggggcaccgagaatt	15	11	0	1	rs375139764		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51132706C>A	ENST00000338916.4	-	4	1759	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	SYT3_ENST00000544769.1_Nonsense_Mutation_p.E376*|SYT3_ENST00000600079.1_Nonsense_Mutation_p.E376*|SYT3_ENST00000593901.1_Nonsense_Mutation_p.E376*	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	376	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGGGCCAGCTCGGCCAGGGGC	0.607																																																	0													92	96	95					19																	51132706		2203	4300	6503	SO:0001587	stop_gained	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1126G>T	19.37:g.51132706C>A	ENSP00000340914:p.Glu376*		Q8N5Z1|Q8N640	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.E376*	ENST00000338916.4	37	c.1126	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	C	44	11.154980	0.99523	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	.	.	.	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1835	0.81929	0.0:1.0:0.0:0.0	.	.	.	.	X	376	.	ENSP00000340914:E376X	E	-	1	0	SYT3	55824518	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	5.821000	0.69257	2.183000	0.69458	0.655000	0.94253	GAG	SYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin		0.607	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	C	NM_032298		51132706	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	51132706	C	A	51132706	4	1	153	1	0	0	0	0	0	1	0	0	15505	893	31	3	666	3	SYT3	19	51132706	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	351259	51132706	7996277	1269	27243										
KLK5	25818	genome.wustl.edu	37	chr19	51452178	51452178	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtcccagcagagggacaatGagaggagacgttgatgggtc	16	7	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51452178G>C	ENST00000336334.3	-	4	881	c.529C>G	c.(529-531)Cat>Gat	p.H177D	KLK5_ENST00000391809.2_Missense_Mutation_p.H177D|KLK5_ENST00000593428.1_Missense_Mutation_p.H177D|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GAGGGACAATGAGAGGAGACG	0.527																																																	0													90	92	91					19																	51452178		2203	4300	6503	SO:0001583	missense	25818			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.529C>G	19.37:g.51452178G>C	ENSP00000337733:p.His177Asp		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H177D	ENST00000336334.3	37	c.529	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	g	1.182	-0.637932	0.03557	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.88046	-2.33;-2.33	4.34	-2.85	0.05734	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.250680	0.02762	N	0.118753	T	0.64182	0.2575	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62034	-0.6939	10	0.08381	T	0.77	.	2.5827	0.04822	0.0925:0.2966:0.3266:0.2842	.	177	Q9Y337	KLK5_HUMAN	D	177	ENSP00000337733:H177D;ENSP00000375685:H177D	ENSP00000337733:H177D	H	-	1	0	KLK5	56143990	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.421000	0.07053	-0.167000	0.10871	0.655000	0.94253	CAT	KLK5	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.527	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1	G	NM_012427		51452178	-1	no_errors	ENST00000336334	ensembl	human	known	70_37	missense	SNP	0.000	C	C	51452178	G	C	51452178	3	2	153	1	0	0	0	0	1	0	0	0	8427	1290	45	1	364	1	KLK5	19	51452178	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	319472	51452178	7676805	1270	27244										
SIGLEC8	27181	genome.wustl.edu	37	chr19	51960463	51960463	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcatctccttggaagacagtCatggtcaagttccaaggagg	12	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51960463C>T	ENST00000321424.3	-	3	822	c.756G>A	c.(754-756)atG>atA	p.M252I	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.M159I|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	252	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAAGACAGTCATGGTCAAGT	0.567																																																	0													100	95	97					19																	51960463		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.756G>A	19.37:g.51960463C>T	ENSP00000321077:p.Met252Ile		Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M252I	ENST00000321424.3	37	c.756	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	1.213	-0.629235	0.03610	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.57907	0.37;1.48	2.14	-3.15	0.05233	Immunoglobulin-like (1);	1.472820	0.04771	N	0.428130	T	0.14184	0.0343	N	0.00648	-1.295	0.09310	N	1	B;B	0.14438	0.01;0.0	B;B	0.12156	0.007;0.0	T	0.18304	-1.0341	10	0.05721	T	0.95	.	0.4369	0.00480	0.1743:0.2123:0.2625:0.3509	.	159;252	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	I	252;159	ENSP00000321077:M252I;ENSP00000339448:M159I	ENSP00000321077:M252I	M	-	3	0	SIGLEC8	56652275	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.604000	0.05667	-0.667000	0.05303	0.508000	0.49915	ATG	SIGLEC8	-	pfscan_Ig-like		0.567	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	C	NM_014442		51960463	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	missense	SNP	0.000	T	T	51960463	C	T	51960463	3	4	153	1	0	0	0	0	1	0	0	0	14344	826	29	1	763	1	SIGLEC8	19	51960463	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	508285	51960463	7168520	1271	27245										
ZNF841	284371	genome.wustl.edu	37	chr19	52569558	52569558	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgatgtacagttagtaatGagccccaattaaaggctttg	9	7	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:52569558G>C	ENST00000426391.2	-	5	1780	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000389534.4_Nonsense_Mutation_p.S526*|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.S526*|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGTTAGTAATGAGCCCCAATT	0.398																																																	0													98	90	92					19																	52569558		692	1591	2283	SO:0001587	stop_gained	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1229C>G	19.37:g.52569558G>C	ENSP00000415453:p.Ser410*		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S526*	ENST00000426391.2	37	c.1577		19	.	.	.	.	.	.	.	.	.	.	G	41	8.864656	0.98982	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	.	.	.	1.85	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.5806	0.17248	0.0:0.0:0.6753:0.3247	.	.	.	.	X	526;410	.	ENSP00000374185:S526X	S	-	2	0	ZNF841	57261370	0.000000	0.05858	0.004000	0.12327	0.806000	0.45545	0.075000	0.14686	1.350000	0.45770	0.313000	0.20887	TCA	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52569558	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	52569558	G	C	52569558	4	2	153	1	0	0	0	0	0	1	0	0	18219	1294	45	1	1201	1	ZNF841	19	52569558	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	609095	52569558	6559425	1272	27246										
ZNF578	147660	genome.wustl.edu	37	chr19	53014124	53014124	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gattaagctttcatttgcatCttcctgaactccacatattt	4	10	2	1	rs376544097		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:53014124C>T	ENST00000421239.2	+	6	734	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATTTGCATCTTCCTGAACT	0.398																																																	0								C	PHE/LEU	0,4406		0,0,2203	130	133	132		490	-2.4	0	19		132	1,8599		0,1,4299	no	missense	ZNF578	NM_001099694.1	22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	164/591	53014124	1,13005	2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.490C>T	19.37:g.53014124C>T	ENSP00000459216:p.Leu164Phe		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L164F	ENST00000421239.2	37	c.490	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	12.82	2.053651	0.36277	0.0	1.16E-4	ENSG00000258405	ENST00000553364	.	.	.	1.21	-2.42	0.06542	.	.	.	.	.	T	0.52565	0.1742	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.45542	-0.9254	7	.	.	.	.	4.8284	0.13428	0.0:0.6264:0.2149:0.1587	.	164	G3V4F6	.	F	164	.	.	L	+	1	0	ZNF578	57705936	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.793000	0.04589	-1.246000	0.02510	0.089000	0.15464	CTT	ZNF578	-	NULL		0.398	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		53014124	1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.002	T	T	53014124	C	T	53014124	3	4	153	1	0	0	0	0	1	0	0	0	18040	913	32	1	500	1	ZNF578	19	53014124	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	444566	53014124	6114859	1273	27247										
ZNF578	147660	genome.wustl.edu	37	chr19	53014490	53014490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gatgtcacactagtgagaaaCcttacaagtgtaatgaatgt	9	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:53014490C>T	ENST00000421239.2	+	6	1100	c.856C>T	c.(856-858)Cct>Tct	p.P286S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAGTGAGAAACCTTACAAGTG	0.388																																																	0													112	116	115					19																	53014490		2203	4299	6502	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.856C>T	19.37:g.53014490C>T	ENSP00000459216:p.Pro286Ser		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P286S	ENST00000421239.2	37	c.856	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	17.27	3.347010	0.61183	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.29	1.29	0.21616	.	.	.	.	.	T	0.47303	0.1438	L	0.31526	0.94	0.27793	N	0.942752	D	0.76494	0.999	D	0.74348	0.983	T	0.35674	-0.9779	7	.	.	.	.	9.6232	0.39734	0.0:1.0:0.0:0.0	.	286	G3V4F6	.	S	286	.	.	P	+	1	0	ZNF578	57706302	.	.	0.391000	0.26233	0.367000	0.29736	.	.	0.719000	0.32188	0.290000	0.19541	CCT	ZNF578	-	pfscan_Znf_C2H2		0.388	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		53014490	1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53014490	C	T	53014490	3	4	153	1	0	0	0	0	1	0	0	0	18040	507	18	4	866	4	ZNF578	19	53014490	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	366	53014490	6114493	1274	27248										
NLRP12	91662	genome.wustl.edu	37	chr19	54299115	54299115	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctggtcatcatccctcaccaGaggactcggagtttgcagcc	10	14	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54299115G>C	ENST00000324134.6	-	9	3264	c.3096C>G	c.(3094-3096)ctC>ctG	p.L1032L	NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000391775.3_Silent_p.L975L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1032					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCTCACCAGAGGACTCGGA	0.552																																																	0													59	49	52					19																	54299115		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3096C>G	19.37:g.54299115G>C			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L1032	ENST00000324134.6	37	c.3096	CCDS12864.1	19																																																																																			NLRP12	-	NULL		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54299115	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	silent	SNP	0.795	C	C	54299115	G	C	54299115	2	2	153	1	0	0	0	0	0	0	0	1	10498	929	33	1		1	NLRP12	19	54299115	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1284625	54299115	4829868	1275	27249										
NLRP12	91662	genome.wustl.edu	37	chr19	54318218	54318218	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgttgactggttcccaagtGaggacgggccaccaggtggg	16	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54318218G>A	ENST00000324134.6	-	2	482	c.314C>T	c.(313-315)tCa>tTa	p.S105L	NLRP12_ENST00000535162.1_Missense_Mutation_p.S105L|NLRP12_ENST00000391772.1_Missense_Mutation_p.S105L|NLRP12_ENST00000354278.3_Missense_Mutation_p.S105L|NLRP12_ENST00000351894.4_Missense_Mutation_p.S105L|NLRP12_ENST00000345770.5_Missense_Mutation_p.S105L|NLRP12_ENST00000391773.1_Missense_Mutation_p.S105L|NLRP12_ENST00000391775.3_Missense_Mutation_p.S105L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	105					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTCCCAAGTGAGGACGGGCC	0.498																																																	0													126	114	118					19																	54318218		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.314C>T	19.37:g.54318218G>A	ENSP00000319377:p.Ser105Leu		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S105L	ENST00000324134.6	37	c.314	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032966	0.19590	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74421	-0.78;-0.81;-0.84;-0.84;-0.82;-0.78;-0.81	3.62	2.54	0.30619	.	1.883340	0.03868	N	0.275127	T	0.61837	0.2379	N	0.19112	0.55	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.49716	-0.8910	10	0.40728	T	0.16	.	7.5195	0.27620	0.1215:0.0:0.8785:0.0	.	105;105;105;105	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	105	ENSP00000319377:S105L;ENSP00000438030:S105L;ENSP00000340473:S105L;ENSP00000346231:S105L;ENSP00000375655:S105L;ENSP00000375653:S105L;ENSP00000375652:S105L	ENSP00000319377:S105L	S	-	2	0	NLRP12	59010030	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.949000	0.29109	1.056000	0.40484	0.655000	0.94253	TCA	NLRP12	-	NULL		0.498	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54318218	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	missense	SNP	0.002	A	A	54318218	G	A	54318218	3	1	153	1	0	0	0	0	1	0	0	0	10498	1294	45	1	3003	1	NLRP12	19	54318218	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	19103	54318218	4810765	1276	27250										
TMC4	147798	genome.wustl.edu	37	chr19	54664722	54664722	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactcagggatctgggcccaGatggacgactgcccccggaa	14	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54664722G>A	ENST00000376591.4	-	13	2015	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	TMC4_ENST00000301187.4_Silent_p.I622I|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Silent_p.I210I	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	628					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTGGGCCCAGATGGACGACT	0.562																																																	0													52	60	57					19																	54664722		2203	4300	6503	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1884C>T	19.37:g.54664722G>A			Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.I622	ENST00000376591.4	37	c.1866	CCDS46174.1	19																																																																																			TMC4	-	NULL		0.562	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54664722	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54664722	G	A	54664722	2	1	153	1	0	0	0	0	0	0	0	1	16017	932	33	1		1	TMC4	19	54664722	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	346504	54664722	4464261	1277	27251										
LILRA5	353514	genome.wustl.edu	37	chr19	54822829	54822829	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggaactgcccactgggggtCagctgtgagtccaaggtcca	14	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54822829C>T	ENST00000301219.3	-	5	686	c.567G>A	c.(565-567)ctG>ctA	p.L189L	LILRA5_ENST00000346508.3_Silent_p.L177L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.L189L|LILRA5_ENST00000446712.3_Silent_p.L177L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	189	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACTGGGGGTCAGCTGTGAGT	0.597																																																	0													53	55	54					19																	54822829		2203	4300	6503	SO:0001819	synonymous_variant	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.567G>A	19.37:g.54822829C>T			A6NHI3	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.L189	ENST00000301219.3	37	c.567	CCDS12888.1	19																																																																																			LILRA5	-	smart_Ig_sub		0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	C	NM_181985		54822829	-1	no_errors	ENST00000301219	ensembl	human	known	70_37	silent	SNP	0.000	T	T	54822829	C	T	54822829	2	4	153	1	0	0	0	0	0	0	0	1	8808	813	29	1		1	LILRA5	19	54822829	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	158107	54822829	4306154	1278	27252										
NLRP7	199713	genome.wustl.edu	37	chr19	55449510	55449510	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtttcacttccagaaacttGaggttgctgtttgagctgaa	10	7	1	4	rs104895554		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:55449510G>A	ENST00000590030.1	-	4	2071	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	NLRP7_ENST00000340844.2_Silent_p.L677L|NLRP7_ENST00000448121.2_Silent_p.L649L|NLRP7_ENST00000446217.1_Silent_p.L705L|NLRP7_ENST00000588756.1_Silent_p.L677L|NLRP7_ENST00000328092.5_Silent_p.L649L|NLRP7_ENST00000592784.1_Silent_p.L677L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	677							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCAGAAACTTGAGGTTGCTGT	0.502																																																	0													142	144	144					19																	55449510		2203	4300	6503	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2031C>T	19.37:g.55449510G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L705	ENST00000590030.1	37	c.2115	CCDS33109.1	19																																																																																			NLRP7	-	NULL		0.502	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	G	NM_139176		55449510	-1	no_errors	ENST00000446217	ensembl	human	known	70_37	silent	SNP	0.014	A	A	55449510	G	A	55449510	2	1	153	1	0	0	0	0	0	0	0	1	10506	1277	45	1		1	NLRP7	19	55449510	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	626681	55449510	3679473	1279	27253										
TMEM190	147744	genome.wustl.edu	37	chr19	55889252	55889252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agctgcagcatctgcttgttCtggcgagtgggcctgggata	15	9	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:55889252C>G	ENST00000291934.3	+	4	321	c.303C>G	c.(301-303)ttC>ttG	p.F101L	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	101					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TCTGCTTGTTCTGGCGAGTGG	0.701																																																	0													39	40	40					19																	55889252		2203	4298	6501	SO:0001583	missense	147744			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.303C>G	19.37:g.55889252C>G	ENSP00000291934:p.Phe101Leu		A6NJL5	Missense_Mutation	SNP	superfamily_P_trefoil	p.F101L	ENST00000291934.3	37	c.303	CCDS33113.1	19	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391805	0.62066	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.31	3.31	0.37934	.	0.000000	0.43919	D	0.000519	T	0.55609	0.1931	L	0.27053	0.805	0.36202	D	0.850784	D	0.56035	0.974	D	0.67725	0.953	T	0.65668	-0.6112	9	0.87932	D	0	.	10.2689	0.43470	0.0:1.0:0.0:0.0	.	101	Q8WZ59	TM190_HUMAN	L	101	.	ENSP00000291934:F101L	F	+	3	2	TMEM190	60581064	1.000000	0.71417	0.993000	0.49108	0.463000	0.32649	1.810000	0.38932	1.869000	0.54173	0.313000	0.20887	TTC	TMEM190	-	NULL		0.701	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM190	HGNC	protein_coding	OTTHUMT00000453042.1	C	NM_139172		55889252	1	no_errors	ENST00000291934	ensembl	human	known	70_37	missense	SNP	0.998	G	G	55889252	C	G	55889252	3	3	153	1	0	0	0	0	1	0	0	0	16144	912	32	1	317	1	TMEM190	19	55889252	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	439742	55889252	3239731	1280	27254										
NLRP11	204801	genome.wustl.edu	37	chr19	56321256	56321256	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctacacaaagcactttcattGacatttaactcgaatcttat	3	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:56321256G>A	ENST00000589093.1	-	3	813	c.720C>T	c.(718-720)gtC>gtT	p.V240V	NLRP11_ENST00000592953.1_Silent_p.V141V|NLRP11_ENST00000589824.2_Silent_p.V240V|NLRP11_ENST00000360133.3_Silent_p.V240V|NLRP11_ENST00000443188.1_Silent_p.V240V			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACTTTCATTGACATTTAACT	0.483																																																	0													83	81	81					19																	56321256		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.720C>T	19.37:g.56321256G>A			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V240	ENST00000589093.1	37	c.720	CCDS12935.1	19																																																																																			NLRP11	-	pfscan_NACHT_NTPase		0.483	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	G	NM_145007		56321256	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56321256	G	A	56321256	2	1	153	1	0	0	0	0	0	0	0	1	10497	1277	45	1		1	NLRP11	19	56321256	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	432004	56321256	2807727	1281	27255										
NLRP8	126205	genome.wustl.edu	37	chr19	56466659	56466659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctgaaacagcaaatggagaGaggaaacaatctcacacagt	9	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:56466659G>A	ENST00000291971.3	+	3	1306	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R412K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	412	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAATGGAGAGAGGAAACAAT	0.483																																																	0													89	89	89					19																	56466659		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1235G>A	19.37:g.56466659G>A	ENSP00000291971:p.Arg412Lys		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R412K	ENST00000291971.3	37	c.1235	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.104959	0.01828	.	.	ENSG00000179709	ENST00000291971	D	0.83591	-1.74	1.78	-0.651	0.11454	.	.	.	.	.	T	0.57989	0.2091	N	0.12961	0.28	0.09310	N	1	B;B	0.29766	0.256;0.016	B;B	0.25140	0.058;0.01	T	0.51293	-0.8724	9	0.02654	T	1	.	2.9736	0.05930	0.1926:0.2932:0.5142:0.0	.	412;412	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	412	ENSP00000291971:R412K	ENSP00000291971:R412K	R	+	2	0	NLRP8	61158471	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.458000	0.06737	-0.086000	0.12550	0.514000	0.50259	AGA	NLRP8	-	NULL		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	G	NM_176811		56466659	1	no_errors	ENST00000291971	ensembl	human	known	70_37	missense	SNP	0.031	A	A	56466659	G	A	56466659	3	1	153	1	0	0	0	0	1	0	0	0	10507	942	33	1	1245	1	NLRP8	19	56466659	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	145403	56466659	2662324	1282	27256										
ZNF667	63934	genome.wustl.edu	37	chr19	56953634	56953634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cccaacaacatgaattttctGatgtatattgaaagactgac	6	8	1	5			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:56953634G>C	ENST00000504904.3	-	7	1449	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.Q244E|ZNF667_ENST00000342634.3_Missense_Mutation_p.Q372E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGAATTTTCTGATGTATATTG	0.378																																																	0													112	115	114					19																	56953634		2203	4300	6503	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.730C>G	19.37:g.56953634G>C	ENSP00000439402:p.Gln244Glu		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q372E	ENST00000504904.3	37	c.1114	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	G	2.260	-0.369507	0.05069	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.05025	3.51;3.57;3.57	4.94	1.33	0.21861	Zinc finger, C2H2-like (1);	1.269230	0.05751	N	0.603086	T	0.09247	0.0228	L	0.56340	1.77	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.37979	-0.9682	10	0.54805	T	0.06	0.2222	9.6396	0.39831	0.0:0.2857:0.567:0.1473	.	372;244	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	372;244;244;26	ENSP00000344699:Q372E;ENSP00000439402:Q244E;ENSP00000292069:Q244E	ENSP00000292069:Q244E	Q	-	1	0	ZNF667	61645446	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.481000	0.22260	0.641000	0.30601	-0.274000	0.10170	CAG	ZNF667	-	smart_Znf_C2H2-like		0.378	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	G	NM_022103		56953634	-1	no_errors	ENST00000342634	ensembl	human	known	70_37	missense	SNP	0.001	C	C	56953634	G	C	56953634	3	2	153	1	0	0	0	0	1	0	0	0	18104	1299	45	1	1106	1	ZNF667	19	56953634	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	486975	56953634	2175349	1283	27257										
ZFP28	140612	genome.wustl.edu	37	chr19	57065696	57065696	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atcgattgtgggaaagccttCagtgaccacatagggcttaa	11	8	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57065696C>T	ENST00000301318.3	+	8	1613	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGAAAGCCTTCAGTGACCACA	0.438																																					Ovarian(124;554 1662 19430 21141 52494)												0													83	70	74					19																	57065696		2203	4300	6503	SO:0001819	synonymous_variant	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1542C>T	19.37:g.57065696C>T			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F514	ENST00000301318.3	37	c.1542	CCDS12946.1	19																																																																																			ZFP28	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	C	NM_020828		57065696	1	no_errors	ENST00000301318	ensembl	human	known	70_37	silent	SNP	0.999	T	T	57065696	C	T	57065696	2	4	153	1	0	0	0	0	0	0	0	1	17672	825	29	1		1	ZFP28	19	57065696	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	112062	57065696	2063287	1284	27258										
ZNF805	390980	genome.wustl.edu	37	chr19	57765301	57765301	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataccggggagaagccctatGagtgcagtgaatgtgggaag	16	6	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57765301G>A	ENST00000414468.2	+	4	1114	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	ZNF805_ENST00000354309.4_Missense_Mutation_p.E239K|ZNF805_ENST00000535550.1_Missense_Mutation_p.E239K	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAAGCCCTATGAGTGCAGTGA	0.532																																																	0													57	58	58					19																	57765301		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1114G>A	19.37:g.57765301G>A	ENSP00000412999:p.Glu372Lys		B4DNM5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E372K	ENST00000414468.2	37	c.1114	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694187	0.48202	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.19250	2.16;2.16;2.16	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.561819	0.14875	N	0.293319	T	0.05868	0.0153	N	0.00746	-1.225	0.23366	N	0.997828	P	0.34815	0.47	B	0.34242	0.178	T	0.22800	-1.0206	10	0.09590	T	0.72	.	9.6861	0.40100	0.1041:0.0:0.8959:0.0	.	372	Q5CZA5	ZN805_HUMAN	K	239;372;239	ENSP00000440067:E239K;ENSP00000412999:E372K;ENSP00000365414:E239K	ENSP00000365414:E239K	E	+	1	0	ZNF805	62457113	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	-0.204000	0.09425	2.394000	0.81467	0.563000	0.77884	GAG	ZNF805	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	G	NM_001023563		57765301	1	no_errors	ENST00000414468	ensembl	human	known	70_37	missense	SNP	0.914	A	A	57765301	G	A	57765301	3	1	153	1	0	0	0	0	1	0	0	0	18202	1291	45	1	1128	1	ZNF805	19	57765301	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	699605	57765301	1363682	1285	27259										
ZNF548	147694	genome.wustl.edu	37	chr19	57910035	57910035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcacccaaagcagcaaattgGagaaaatctttccagagggg	11	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57910035G>A	ENST00000366197.5	+	3	630	c.380G>A	c.(379-381)gGa>gAa	p.G127E	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.G139E|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGCAAATTGGAGAAAATCTT	0.448																																																	0													104	96	99					19																	57910035		1940	4168	6108	SO:0001583	missense	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.380G>A	19.37:g.57910035G>A	ENSP00000379482:p.Gly127Glu		Q96M05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G139E	ENST00000366197.5	37	c.416	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041375	0.35989	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05025	3.51;3.54	2.69	0.427	0.16489	.	.	.	.	.	T	0.06234	0.0161	L	0.55213	1.73	0.09310	N	1	B;B	0.30937	0.301;0.2	B;B	0.27608	0.081;0.037	T	0.33828	-0.9853	9	0.54805	T	0.06	.	3.8609	0.08996	0.1482:0.2532:0.5986:0.0	.	139;127	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	E	139;127	ENSP00000337555:G139E;ENSP00000379482:G127E	ENSP00000337555:G139E	G	+	2	0	ZNF548	62601847	0.133000	0.22466	0.002000	0.10522	0.382000	0.30200	0.098000	0.15189	0.207000	0.20607	0.591000	0.81541	GGA	ZNF548	-	NULL		0.448	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	G	NM_152909		57910035	1	no_errors	ENST00000336128	ensembl	human	known	70_37	missense	SNP	0.002	A	A	57910035	G	A	57910035	3	1	153	1	0	0	0	0	1	0	0	0	18010	1174	41	1	430	1	ZNF548	19	57910035	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	144734	57910035	1218948	1286	27260										
ZNF548	147694	genome.wustl.edu	37	chr19	57910718	57910718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atatctccacactcattagaCatcagagaattcacactgga	5	11	4	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57910718C>T	ENST00000366197.5	+	3	1313	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.H367Y|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCATTAGACATCAGAGAAT	0.403																																																	0													57	59	58					19																	57910718		2198	4299	6497	SO:0001583	missense	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1063C>T	19.37:g.57910718C>T	ENSP00000379482:p.His355Tyr		Q96M05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H367Y	ENST00000366197.5	37	c.1099	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665393	0.67700	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	D;D	0.86769	-2.17;-2.17	2.76	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94689	0.8287	H	0.94734	3.575	0.36338	D	0.859288	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97109	0.9803	9	0.87932	D	0	.	12.6725	0.56874	0.0:1.0:0.0:0.0	.	367;355	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Y	367;355	ENSP00000337555:H367Y;ENSP00000379482:H355Y	ENSP00000337555:H367Y	H	+	1	0	ZNF548	62602530	1.000000	0.71417	0.063000	0.19743	0.920000	0.55202	5.143000	0.64826	1.563000	0.49615	0.563000	0.77884	CAT	ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	C	NM_152909		57910718	1	no_errors	ENST00000336128	ensembl	human	known	70_37	missense	SNP	0.966	T	T	57910718	C	T	57910718	3	4	153	1	0	0	0	0	1	0	0	0	18010	478	17	4	1113	4	ZNF548	19	57910718	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	683	57910718	1218265	1287	27261										
ZNF17	7565	genome.wustl.edu	37	chr19	57931647	57931647	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctcaaatacaatgttgttCaacaccagaaaattcacact	4	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57931647C>G	ENST00000601808.1	+	3	1000	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.Q265E	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CAATGTTGTTCAACACCAGAA	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)												0													73	78	76					19																	57931647		2203	4300	6503	SO:0001583	missense	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.787C>G	19.37:g.57931647C>G	ENSP00000471905:p.Gln263Glu		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q263E	ENST00000601808.1	37	c.787	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.635878	0.00806	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.45	-4.5	0.03493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07863	0.0197	N	0.03917	-0.325	0.09310	N	1	B;B	0.21753	0.06;0.002	B;B	0.16722	0.016;0.005	T	0.31166	-0.9953	8	0.02654	T	1	.	1.8522	0.03172	0.1745:0.2743:0.4146:0.1366	.	265;263	P17021-2;P17021	.;ZNF17_HUMAN	E	263	.	ENSP00000302455:Q263E	Q	+	1	0	ZNF17	62623459	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-5.077000	0.00153	-0.720000	0.04935	0.650000	0.86243	CAA	ZNF17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	C	NM_006959		57931647	1	no_errors	ENST00000601808	ensembl	human	known	70_37	missense	SNP	0.000	G	G	57931647	C	G	57931647	3	3	153	1	0	0	0	0	1	0	0	0	17773	827	29	1	797	1	ZNF17	19	57931647	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	20929	57931647	1197336	1288	27262										
VN1R1	57191	genome.wustl.edu	37	chr19	57967211	57967211	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcatgtaatgagctaaatCtctttgatgctttgtaagaa	8	6	1	3	rs145243348	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57967211C>G	ENST00000321039.3	-	1	643	c.644G>C	c.(643-645)aGa>aCa	p.R215T	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	215					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGCTAAATCTCTTTGATGC	0.388																																																	0													106	100	102					19																	57967211		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.644G>C	19.37:g.57967211C>G	ENSP00000322339:p.Arg215Thr		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.R215T	ENST00000321039.3	37	c.644	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.865502	0.00547	.	.	ENSG00000178201	ENST00000321039	T	0.36520	1.25	3.69	-7.39	0.01402	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12390	0.0301	N	0.11313	0.125	0.09310	N	1	B	0.27351	0.176	B	0.25140	0.058	T	0.16571	-1.0398	9	0.19590	T	0.45	.	1.558	0.02589	0.2997:0.1645:0.0988:0.437	.	215	Q9GZP7	VN1R1_HUMAN	T	215	ENSP00000322339:R215T	ENSP00000322339:R215T	R	-	2	0	VN1R1	62659023	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.595000	0.05727	-2.603000	0.00450	-5.173000	0.00001	AGA	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.388	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	C	NM_020633		57967211	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.000	G	G	57967211	C	G	57967211	3	3	153	1	0	0	0	0	1	0	0	0	17209	913	32	1	421	1	VN1R1	19	57967211	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	35564	57967211	1161772	1289	27263										
ZNF416	55659	genome.wustl.edu	37	chr19	58084776	58084776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtgaaaggcattcctgactCatggaacaggcagcactgca	12	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58084776C>G	ENST00000196489.3	-	4	718	c.496G>C	c.(496-498)Gag>Cag	p.E166Q		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATTCCTGACTCATGGAACAGG	0.502																																																	0													98	90	93					19																	58084776		2203	4300	6503	SO:0001583	missense	55659			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.496G>C	19.37:g.58084776C>G	ENSP00000196489:p.Glu166Gln		Q9NWW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E166Q	ENST00000196489.3	37	c.496	CCDS12954.1	19	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946276	0.18356	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.06768	3.26	2.64	-1.03	0.10102	.	.	.	.	.	T	0.03695	0.0105	N	0.12182	0.205	0.09310	N	1	B	0.30361	0.277	B	0.23018	0.043	T	0.39313	-0.9620	9	0.56958	D	0.05	.	3.2904	0.06947	0.4554:0.4035:0.0:0.1411	.	166	Q9BWM5	ZN416_HUMAN	Q	166;152;146	ENSP00000196489:E166Q	ENSP00000196489:E166Q	E	-	1	0	ZNF416	62776588	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.107000	0.10873	-0.114000	0.11936	0.609000	0.83330	GAG	ZNF416	-	NULL		0.502	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	HGNC	protein_coding	OTTHUMT00000466787.1	C	NM_017879		58084776	-1	no_errors	ENST00000196489	ensembl	human	known	70_37	missense	SNP	0.000	G	G	58084776	C	G	58084776	3	3	153	1	0	0	0	0	1	0	0	0	17923	835	29	1	1292	1	ZNF416	19	58084776	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	117565	58084776	1044207	1290	27264										
ZSCAN4	201516	genome.wustl.edu	37	chr19	58187617	58187617	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaaggacctgctgttcagaGagaagaagggatttctgagt	13	7	2	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58187617G>A	ENST00000318203.5	+	3	801	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	35					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R35I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGTTCAGAGAGAAGAAGGG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											95	92	93					19																	58187617		2203	4300	6503	SO:0001583	missense	201516			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.104G>A	19.37:g.58187617G>A	ENSP00000321963:p.Arg35Lys		Q3MIQ2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R35K	ENST00000318203.5	37	c.104	CCDS12958.1	19	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752218	0.03041	.	.	ENSG00000180532	ENST00000318203	T	0.06294	3.32	4.42	-1.87	0.07737	Retrovirus capsid, C-terminal (1);	3.044690	0.00916	N	0.002528	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31166	-0.9953	10	0.07644	T	0.81	1.1869	0.899	0.01269	0.3562:0.1609:0.3112:0.1718	.	35	Q8NAM6	ZSCA4_HUMAN	K	35	ENSP00000321963:R35K	ENSP00000321963:R35K	R	+	2	0	ZSCAN4	62879429	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.179000	0.09768	-0.423000	0.07394	-1.145000	0.01858	AGA	ZSCAN4	-	superfamily_Retrov_capsid_C		0.388	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN4	HGNC	protein_coding	OTTHUMT00000466812.1	G	NM_152677		58187617	1	no_errors	ENST00000318203	ensembl	human	known	70_37	missense	SNP	0.000	A	A	58187617	G	A	58187617	3	1	153	1	0	0	0	0	1	0	0	0	18267	942	33	1	106	1	ZSCAN4	19	58187617	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	102841	58187617	941366	1291	27265										
ZNF551	90233	genome.wustl.edu	37	chr19	58196748	58196748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaactttgcacatgtaacatCcctgggtaaggccctagcat	9	11	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58196748C>A	ENST00000282296.5	+	2	385	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	ZNF551_ENST00000599402.1_Intron|ZNF551_ENST00000596085.1_Missense_Mutation_p.S51Y|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S51Y|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATGTAACATCCCTGGGTAAG	0.498																																																	0													250	223	232					19																	58196748		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.200C>A	19.37:g.58196748C>A	ENSP00000282296:p.Ser67Tyr		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S67Y	ENST00000282296.5	37	c.200	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078581	0.36662	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.17	2.17	0.27698	Krueppel-associated box (4);	.	.	.	.	T	0.70622	0.3245	M	0.91510	3.215	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56390	-0.7987	8	0.52906	T	0.07	.	7.9036	0.29748	0.0:1.0:0.0:0.0	.	67	Q7Z340	ZN551_HUMAN	Y	67;51;39	.	ENSP00000282296:S51Y	S	+	2	0	ZNF551	62888560	0.004000	0.15560	0.007000	0.13788	0.014000	0.08584	0.758000	0.26447	1.521000	0.48983	0.462000	0.41574	TCC	ZNF551	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	C	NM_138347		58196748	1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.008	A	A	58196748	C	A	58196748	3	1	153	1	0	0	0	0	1	0	0	0	18013	855	30	3	158	3	ZNF551	19	58196748	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	9131	58196748	932235	1292	27266										
ZNF776	284309	genome.wustl.edu	37	chr19	58265783	58265783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accagagagttcacactggaGaaaggccatatgagtgtaga	12	7	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58265783G>A	ENST00000317178.5	+	3	1548	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCACACTGGAGAAAGGCCATA	0.438																																																	0													123	117	119					19																	58265783		2203	4300	6503	SO:0001583	missense	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1285G>A	19.37:g.58265783G>A	ENSP00000321812:p.Glu429Lys		Q6ZS36|Q8N968	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E429K	ENST00000317178.5	37	c.1285	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899066	0.72754	.	.	ENSG00000152443	ENST00000317178	T	0.24350	1.86	1.86	-0.643	0.11482	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40815	0.1132	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.72338	0.977;0.749	T	0.24835	-1.0149	9	0.62326	D	0.03	.	6.2281	0.20720	0.2947:0.0:0.7053:0.0	.	429;429	Q68DI1;B4DSC6	ZN776_HUMAN;.	K	429	ENSP00000321812:E429K	ENSP00000321812:E429K	E	+	1	0	ZNF776	62957595	0.152000	0.22762	0.003000	0.11579	0.421000	0.31385	1.751000	0.38339	-0.264000	0.09365	0.313000	0.20887	GAA	ZNF776	-	pfscan_Znf_C2H2		0.438	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	G	NM_173632		58265783	1	no_errors	ENST00000317178	ensembl	human	known	70_37	missense	SNP	0.973	A	A	58265783	G	A	58265783	3	1	153	1	0	0	0	0	1	0	0	0	18179	943	33	1	1295	1	ZNF776	19	58265783	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	69035	58265783	863200	1293	27267										
ZNF418	147686	genome.wustl.edu	37	chr19	58437871	58437871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ataaggtctttctgcagtgtGagttttctgatgtcgaagga	12	5	3	2	rs375998081		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58437871G>A	ENST00000396147.1	-	4	1969	c.1678C>T	c.(1678-1680)Cac>Tac	p.H560Y	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.H581Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.H560Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H475Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTGCAGTGTGAGTTTTCTGA	0.448																																																	0								G	TYR/HIS	0,4388		0,0,2194	76	80	78		1678	2.4	0.2	19		78	1,8591		0,1,4295	no	missense	ZNF418	NM_133460.1	83	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	560/677	58437871	1,12979	2194	4296	6490	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1678C>T	19.37:g.58437871G>A	ENSP00000379451:p.His560Tyr		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H560Y	ENST00000396147.1	37	c.1678	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	16.60	3.168316	0.57584	0.0	1.16E-4	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.28895	1.59;1.59	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61350	0.2340	M	0.91459	3.21	0.31664	N	0.645207	D	0.76494	0.999	D	0.83275	0.996	T	0.69793	-0.5049	9	0.87932	D	0	.	11.8948	0.52650	0.0:0.0:1.0:0.0	.	560	Q8TF45	ZN418_HUMAN	Y	560;581;526	ENSP00000379451:H560Y;ENSP00000407039:H581Y	ENSP00000379451:H560Y	H	-	1	0	ZNF418	63129683	1.000000	0.71417	0.205000	0.23548	0.057000	0.15508	3.917000	0.56424	1.346000	0.45694	0.313000	0.20887	CAC	ZNF418	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58437871	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	missense	SNP	0.997	A	A	58437871	G	A	58437871	3	1	153	1	0	0	0	0	1	0	0	0	17925	1290	45	1	356	1	ZNF418	19	58437871	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	172088	58437871	691112	1294	27268										
ZNF132	7691	genome.wustl.edu	37	chr19	58945830	58945830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatgtgagtttgtggttgaaGgttttcccacatgcaatgca	11	6	0	2	rs367676677		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58945830G>A	ENST00000254166.3	-	3	1381	c.981C>T	c.(979-981)acC>acT	p.T327T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGGTTGAAGGTTTTCCCAC	0.413																																																	0													78	77	77					19																	58945830		2203	4300	6503	SO:0001819	synonymous_variant	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.981C>T	19.37:g.58945830G>A			Q32MI9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T327	ENST00000254166.3	37	c.981	CCDS12980.1	19																																																																																			ZNF132	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1	G	NM_003433		58945830	-1	no_errors	ENST00000254166	ensembl	human	known	70_37	silent	SNP	0.021	A	A	58945830	G	A	58945830	2	1	153	1	0	0	0	0	0	0	0	1	17752	987	35	4		4	ZNF132	19	58945830	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	507959	58945830	183153	1295	27269										
ZNF132	7691	genome.wustl.edu	37	chr19	58948493	58948493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgcatcaaggagctcccaCtcctcttgggagaagtatac	10	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58948493C>T	ENST00000254166.3	-	2	553	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAGCTCCCACTCCTCTTGGG	0.512																																																	0													123	94	103					19																	58948493		2203	4300	6503	SO:0001819	synonymous_variant	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.153G>A	19.37:g.58948493C>T			Q32MI9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E51	ENST00000254166.3	37	c.153	CCDS12980.1	19																																																																																			ZNF132	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.512	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1	C	NM_003433		58948493	-1	no_errors	ENST00000254166	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58948493	C	T	58948493	2	4	153	1	0	0	0	0	0	0	0	1	17752	564	20	4		4	ZNF132	19	58948493	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2663	58948493	180490	1296	27270										
MZF1	7593	genome.wustl.edu	37	chr19	59074503	59074503	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgcacacgaatggtcgctCacccgtgtggatcttctggt	12	12	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:59074503C>T	ENST00000215057.2	-	6	1701	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.E381K|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	381					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AATGGTCGCTCACCCGTGTGG	0.657																																																	0													27	23	24					19																	59074503		2197	4293	6490	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1141G>A	19.37:g.59074503C>T	ENSP00000215057:p.Glu381Lys		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E381K	ENST00000215057.2	37	c.1141	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432718	0.62844	.	.	ENSG00000099326	ENST00000215057	T	0.24350	1.86	3.6	2.57	0.30868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.273212	0.20187	N	0.097400	T	0.24736	0.0600	L	0.55990	1.75	0.32745	N	0.50712	P	0.42123	0.771	B	0.43536	0.423	T	0.36962	-0.9726	10	0.87932	D	0	-12.479	4.9088	0.13811	0.0:0.6594:0.221:0.1196	.	381	P28698	MZF1_HUMAN	K	381	ENSP00000215057:E381K	ENSP00000215057:E381K	E	-	1	0	MZF1	63766315	0.350000	0.24878	0.757000	0.31301	0.583000	0.36354	1.640000	0.37186	1.091000	0.41335	0.467000	0.42956	GAG	MZF1	-	pfscan_Znf_C2H2		0.657	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	C	NM_198055		59074503	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.984	T	T	59074503	C	T	59074503	3	4	153	1	0	0	0	0	1	0	0	0	10131	835	29	1	1067	1	MZF1	19	59074503	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	126010	59074503	54480	1297	27271										
MZF1	7593	genome.wustl.edu	37	chr19	59082462	59082462	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcacacgggcctggatctCagggggcagtgcgcccagga	16	13	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:59082462C>G	ENST00000215057.2	-	2	855	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	MZF1_ENST00000594234.1_Missense_Mutation_p.E99Q|MZF1_ENST00000599369.1_Missense_Mutation_p.E99Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E99Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	99	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTGGATCTCAGGGGGCAGT	0.697																																																	0													21	20	20					19																	59082462		2199	4291	6490	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.295G>C	19.37:g.59082462C>G	ENSP00000215057:p.Glu99Gln		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E99Q	ENST00000215057.2	37	c.295	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	15.25	2.777921	0.49786	.	.	ENSG00000099326	ENST00000215057	T	0.08370	3.1	4.35	3.32	0.38043	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.38272	N	0.001757	T	0.30070	0.0753	M	0.92459	3.31	0.31181	N	0.702037	D;B	0.76494	0.999;0.45	D;B	0.65323	0.934;0.247	T	0.40478	-0.9561	9	.	.	.	-25.1212	6.7486	0.23475	0.0:0.7907:0.0:0.2093	.	99;99	Q7Z729;P28698	.;MZF1_HUMAN	Q	99	ENSP00000215057:E99Q	.	E	-	1	0	MZF1	63774274	0.000000	0.05858	0.971000	0.41717	0.548000	0.35241	0.237000	0.17985	1.189000	0.43028	0.563000	0.77884	GAG	MZF1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.697	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	C	NM_198055		59082462	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.613	G	G	59082462	C	G	59082462	3	3	153	1	0	0	0	0	1	0	0	0	10131	835	29	1	1929	1	MZF1	19	59082462	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	7959	59082462	46521	1298	27272										
TGM3	7053	genome.wustl.edu	37	chr20	2297832	2297832	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctcaaaaattggaaaaaatCtggcttcagcccagtccgat	7	11	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:2297832C>T	ENST00000381458.5	+	6	851	c.788C>T	c.(787-789)tCt>tTt	p.S263F	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	263					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGAAAAAATCTGGCTTCAGC	0.577																																																	0													84	88	87					20																	2297832		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.788C>T	20.37:g.2297832C>T	ENSP00000370867:p.Ser263Phe		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S263F	ENST00000381458.5	37	c.788	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503095	0.44558	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.55234	0.53	5.7	4.68	0.58851	.	0.534997	0.21187	N	0.078709	T	0.69097	0.3073	M	0.78285	2.405	0.09310	N	0.999999	D	0.76494	0.999	D	0.67103	0.949	T	0.60454	-0.7260	10	0.32370	T	0.25	.	12.6893	0.56966	0.2358:0.7642:0.0:0.0	.	263	Q08188	TGM3_HUMAN	F	263	ENSP00000370867:S263F	ENSP00000370867:S263F	S	+	2	0	TGM3	2245832	0.000000	0.05858	0.934000	0.37439	0.533000	0.34776	0.950000	0.29122	2.683000	0.91414	0.655000	0.94253	TCT	TGM3	-	NULL		0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	C	NM_003245		2297832	1	no_errors	ENST00000381458	ensembl	human	known	70_37	missense	SNP	0.016	T	T	2297832	C	T	2297832	3	4	153	1	0	0	0	0	1	0	0	0	15861	913	32	1	810	1	TGM3	20	2297832	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		2297832	60727688	1299	27273										
UBOX5	22888	genome.wustl.edu	37	chr20	3090896	3090896	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tggtacaccggctcctttttGaagtagggagaaaatactct	10	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3090896G>C	ENST00000217173.2	-	5	1953	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	UBOX5_ENST00000348031.2_Missense_Mutation_p.F440L|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GCTCCTTTTTGAAGTAGGGAG	0.597																																																	0													67	77	74					20																	3090896		2203	4300	6503	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1482C>G	20.37:g.3090896G>C	ENSP00000217173:p.Phe494Leu			Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.F494L	ENST00000217173.2	37	c.1482	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533527	0.45073	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.67345	-0.26;-0.19	5.04	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.259561	0.39687	U	0.001298	T	0.62696	0.2449	L	0.47716	1.5	0.36062	D	0.841556	B;B	0.21905	0.062;0.062	B;B	0.18561	0.02;0.022	T	0.65459	-0.6163	10	0.42905	T	0.14	-2.4142	18.7495	0.91809	0.0:0.0:1.0:0.0	.	440;494	Q86X87;O94941	.;RNF37_HUMAN	L	494;440	ENSP00000217173:F494L;ENSP00000311726:F440L	ENSP00000217173:F494L	F	-	3	2	UBOX5	3038896	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.390000	0.59646	2.497000	0.84241	0.561000	0.74099	TTC	UBOX5	-	pfscan_Znf_RING		0.597	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	G	NM_014948		3090896	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3090896	G	C	3090896	3	2	153	1	0	0	0	0	1	0	0	0	16925	1281	45	1	147	1	UBOX5	20	3090896	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	793064	3090896	59934624	1300	27274										
UBOX5	22888	genome.wustl.edu	37	chr20	3103193	3103193	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttctctttgtgagatcttcaGagatgagattttctacttcg	8	7	4	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3103193G>C	ENST00000217173.2	-	3	563	c.92C>G	c.(91-93)tCt>tGt	p.S31C	UBOX5_ENST00000348031.2_Missense_Mutation_p.S31C|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GAGATCTTCAGAGATGAGATT	0.348																																																	0													65	65	65					20																	3103193		2203	4300	6503	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.92C>G	20.37:g.3103193G>C	ENSP00000217173:p.Ser31Cys			Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.S31C	ENST00000217173.2	37	c.92	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465778	0.63513	.	.	ENSG00000185019	ENST00000217173;ENST00000348031;ENST00000449731	T;T;T	0.36157	1.27;1.27;1.27	5.04	5.04	0.67666	.	0.000000	0.85682	U	0.000000	T	0.63450	0.2512	M	0.79475	2.455	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.68880	-0.5292	10	0.87932	D	0	-9.2477	18.3967	0.90501	0.0:0.0:1.0:0.0	.	31;31;31	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	C	31	ENSP00000217173:S31C;ENSP00000311726:S31C;ENSP00000404364:S31C	ENSP00000217173:S31C	S	-	2	0	UBOX5	3051193	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.423000	0.66458	2.335000	0.79485	0.557000	0.71058	TCT	UBOX5	-	NULL		0.348	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	G	NM_014948		3103193	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3103193	G	C	3103193	3	2	153	1	0	0	0	0	1	0	0	0	16925	942	33	1	1545	1	UBOX5	20	3103193	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	12297	3103193	59922327	1301	27275										
DDRGK1	65992	genome.wustl.edu	37	chr20	3183919	3183919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaggccacccgctgggctcGacgctgggcctgtaggcggc	16	16	0	0	rs200427055		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3183919G>C	ENST00000354488.3	-	2	292	c.235C>G	c.(235-237)Cga>Gga	p.R79G	DDRGK1_ENST00000380201.2_Missense_Mutation_p.R79G	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	79						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCTGGGCTCGACGCTGGGCC	0.706																																																	0								G	GLY/ARG	0,4398		0,0,2199	21	21	21		235	4.9	1	20		21	3,8595		0,3,4296	yes	missense	DDRGK1	NM_023935.1	125	0,3,6495	CC,CG,GG		0.0349,0.0,0.0231	possibly-damaging	79/315	3183919	3,12993	2199	4299	6498	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.235C>G	20.37:g.3183919G>C	ENSP00000346483:p.Arg79Gly		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.R79G	ENST00000354488.3	37	c.235	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163876	0.78226	0.0	3.49E-4	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.53423	0.62	4.87	4.87	0.63330	.	0.133751	0.50627	D	0.000119	T	0.44912	0.1316	L	0.34521	1.04	0.51767	D	0.999939	P;B	0.37330	0.59;0.319	P;B	0.44732	0.459;0.078	T	0.36359	-0.9751	10	0.37606	T	0.19	-0.6396	13.8676	0.63598	0.0:0.0:1.0:0.0	.	79;79	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	G	79	ENSP00000346483:R79G	ENSP00000346483:R79G	R	-	1	2	DDRGK1	3131919	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.300000	0.51834	2.421000	0.82119	0.561000	0.74099	CGA	DDRGK1	-	NULL		0.706	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	G	NM_023935		3183919	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3183919	G	C	3183919	3	2	153	1	0	0	0	0	1	0	0	0	4343	1066	37	1	741	1	DDRGK1	20	3183919	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	80726	3183919	59841601	1302	27276										
DDRGK1	65992	genome.wustl.edu	37	chr20	3183980	3183980	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgaggcctgcctccagctctCggctcctcaggctccagggg	13	17	2	0	rs147853986		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3183980C>G	ENST00000354488.3	-	2	231	c.174G>C	c.(172-174)ccG>ccC	p.P58P	DDRGK1_ENST00000380201.2_Silent_p.P58P	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	58						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTCCAGCTCTCGGCTCCTCAG	0.697																																																	0													12	14	13					20																	3183980		2197	4283	6480	SO:0001819	synonymous_variant	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.174G>C	20.37:g.3183980C>G			A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	pfam_DDRGK_dom-contain	p.P58	ENST00000354488.3	37	c.174	CCDS13050.1	20																																																																																			DDRGK1	-	NULL		0.697	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	C	NM_023935		3183980	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	silent	SNP	0.299	G	G	3183980	C	G	3183980	2	3	153	1	0	0	0	0	0	0	0	1	4343	871	31	1		1	DDRGK1	20	3183980	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	61	3183980	59841540	1303	27277										
SLC4A11	83959	genome.wustl.edu	37	chr20	3214933	3214933	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcgcggtgcgcacggatctCttccttgaagttctttaact	10	11	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3214933C>G	ENST00000380056.3	-	4	414	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	SLC4A11_ENST00000380059.3_Missense_Mutation_p.E150Q|SLC4A11_ENST00000539553.2_Missense_Mutation_p.E107Q	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	123					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCACGGATCTCTTCCTTGAAG	0.602																																					NSCLC(190;922 2139 10266 10292 38692)												0													76	72	74					20																	3214933		2203	4300	6503	SO:0001583	missense	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.367G>C	20.37:g.3214933C>G	ENSP00000369396:p.Glu123Gln		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.E150Q	ENST00000380056.3	37	c.448	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675925	0.88445	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.93763	-2.5;-2.45;-2.42;-3.28	5.2	4.26	0.50523	Phosphotransferase/anion transporter (1);	0.138191	0.44285	D	0.000463	D	0.95900	0.8665	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.95960	0.8961	10	0.87932	D	0	.	12.8286	0.57735	0.0:0.921:0.0:0.079	.	107;150;123	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Q	150;123;107;107	ENSP00000369399:E150Q;ENSP00000369396:E123Q;ENSP00000441370:E107Q;ENSP00000404271:E107Q	ENSP00000369396:E123Q	E	-	1	0	SLC4A11	3162933	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.431000	0.80335	1.191000	0.43056	0.655000	0.94253	GAG	SLC4A11	-	superfamily_PTrfase/Anion_transptr		0.602	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	C			3214933	-1	no_errors	ENST00000380059	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3214933	C	G	3214933	3	3	153	1	0	0	0	0	1	0	0	0	14682	922	32	1	2372	1	SLC4A11	20	3214933	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	30953	3214933	59810587	1304	27278										
C20orf194	25943	genome.wustl.edu	37	chr20	3268354	3268354	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agagcggttctgctgggcctCtagggcactggaaaggtatc	15	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3268354C>G	ENST00000252032.9	-	27	2477	c.2410G>C	c.(2410-2412)Gag>Cag	p.E804Q	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	804										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGCTGGGCCTCTAGGGCACTG	0.517																																																	0													141	137	138					20																	3268354		2004	4189	6193	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2410G>C	20.37:g.3268354C>G	ENSP00000252032:p.Glu804Gln		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.E804Q	ENST00000252032.9	37	c.2410	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449972	0.63290	.	.	ENSG00000088854	ENST00000252032	T	0.19250	2.16	4.79	4.79	0.61399	.	0.194781	0.45867	D	0.000324	T	0.41351	0.1155	L	0.51422	1.61	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.16335	-1.0406	10	0.52906	T	0.07	.	16.7639	0.85519	0.0:1.0:0.0:0.0	.	543;804	Q0IIP3;Q5TEA3	.;CT194_HUMAN	Q	804	ENSP00000252032:E804Q	ENSP00000252032:E804Q	E	-	1	0	C20orf194	3216354	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.127000	0.50484	2.485000	0.83878	0.650000	0.86243	GAG	C20orf194	-	NULL		0.517	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	C	NM_001009984		3268354	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3268354	C	G	3268354	3	3	153	1	0	0	0	0	1	0	0	0	2104	922	32	1	1167	1	C20orf194	20	3268354	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	53421	3268354	59757166	1305	27279										
SIGLEC1	6614	genome.wustl.edu	37	chr20	3684498	3684498	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtggaggctgatggggggtGagaccaaagagcccacgccg	18	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3684498G>A	ENST00000344754.4	-	4	946	c.947C>T	c.(946-948)tCa>tTa	p.S316L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S316L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	316	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GATGGGGGGTGAGACCAAAGA	0.602																																																	0													55	46	49					20																	3684498		2203	4300	6503	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.947C>T	20.37:g.3684498G>A	ENSP00000341141:p.Ser316Leu		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S316L	ENST00000344754.4	37	c.947	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833450	0.71258	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.19938	2.11;2.11	5.26	5.26	0.73747	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31177	N	0.008107	T	0.52435	0.1734	M	0.89287	3.02	0.09310	N	0.999991	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74674	0.984;0.983;0.977	T	0.52845	-0.8521	10	0.41790	T	0.15	.	16.3669	0.83335	0.0:0.0:1.0:0.0	.	316;316;316	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	L	316	ENSP00000341141:S316L;ENSP00000202578:S316L	ENSP00000202578:S316L	S	-	2	0	SIGLEC1	3632498	0.975000	0.34042	0.016000	0.15963	0.005000	0.04900	6.003000	0.70701	2.455000	0.83008	0.655000	0.94253	TCA	SIGLEC1	-	smart_Ig_sub,pfscan_Ig-like		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	G	NM_023068		3684498	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	missense	SNP	0.035	A	A	3684498	G	A	3684498	3	1	153	1	0	0	0	0	1	0	0	0	14335	1294	45	1	4254	1	SIGLEC1	20	3684498	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	416144	3684498	59341022	1306	27280										
SMOX	54498	genome.wustl.edu	37	chr20	4162935	4162935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cattcactgggaccaggcctCagcccgccccagaggccctg	11	18	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:4162935C>T	ENST00000305958.4	+	5	1034	c.809C>T	c.(808-810)tCa>tTa	p.S270L	SMOX_ENST00000379460.2_Missense_Mutation_p.S270L|SMOX_ENST00000278795.3_Missense_Mutation_p.S270L|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Missense_Mutation_p.S270L	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	270					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GACCAGGCCTCAGCCCGCCCC	0.687																																																	0													22	23	22					20																	4162935		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.809C>T	20.37:g.4162935C>T	ENSP00000307252:p.Ser270Leu		A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.S270L	ENST00000305958.4	37	c.809	CCDS13075.1	20	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734866	0.30774	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;T;D;T;T	0.91295	-2.82;1.89;-2.82;1.89;1.47	4.65	3.7	0.42460	.	0.450365	0.23519	N	0.047310	T	0.79673	0.4486	L	0.34521	1.04	0.32526	N	0.535551	B;P;B;B;B	0.38827	0.006;0.649;0.309;0.008;0.317	B;B;B;B;B	0.28991	0.025;0.097;0.087;0.009;0.046	T	0.77763	-0.2466	10	0.11485	T	0.65	-6.156	8.2789	0.31889	0.0:0.8932:0.0:0.1068	.	247;270;270;270;270	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	L	270;270;270;270;127	ENSP00000344595:S270L;ENSP00000307252:S270L;ENSP00000278795:S270L;ENSP00000368773:S270L;ENSP00000407269:S127L	ENSP00000278795:S270L	S	+	2	0	SMOX	4110935	0.805000	0.28982	0.980000	0.43619	0.983000	0.72400	1.908000	0.39907	1.192000	0.43071	0.558000	0.71614	TCA	SMOX	-	NULL		0.687	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	C	NM_175842		4162935	1	no_errors	ENST00000305958	ensembl	human	known	70_37	missense	SNP	0.923	T	T	4162935	C	T	4162935	3	4	153	1	0	0	0	0	1	0	0	0	14833	838	29	1	823	1	SMOX	20	4162935	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	478437	4162935	58862585	1307	27281										
PRNP	5621	genome.wustl.edu	37	chr20	4680258	4680258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccttggcggctacatgctggGaagtgccatgagcaggccca	14	12	0	1	rs74315410		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:4680258G>T	ENST00000379440.4	+	2	679	c.392G>T	c.(391-393)gGa>gTa	p.G131V	PRNP_ENST00000430350.2_Missense_Mutation_p.G131V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TACATGCTGGGAAGTGCCATG	0.547																																																	0			GRCh37	CM014372	PRNP	M	rs74315410						78	60	66					20																	4680258		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.392G>T	20.37:g.4680258G>T	ENSP00000368752:p.Gly131Val			Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.G131V	ENST00000379440.4	37	c.392	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804163	0.70682	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-1.72	5.3	5.3	0.74995	Prion/Doppel protein, beta-ribbon domain (2);	0.000000	0.64402	D	0.000001	D	0.95943	0.8679	M	0.68952	2.095	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96671	0.9496	9	0.87932	D	0	-6.9584	14.4393	0.67303	0.0:0.0:1.0:0.0	.	131;131;163	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	V	131;131;131;70;131	ENSP00000368752:G131V;ENSP00000399376:G131V;ENSP00000411599:G131V;ENSP00000415284:G131V	ENSP00000368752:G131V	G	+	2	0	PRNP	4628258	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.888000	0.69758	2.486000	0.83907	0.655000	0.94253	GGA	PRNP	-	superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion		0.547	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	G	NM_000311		4680258	1	no_errors	ENST00000379440	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4680258	G	T	4680258	3	4	153	1	0	0	0	0	1	0	0	0	12571	1174	41	3	394	3	PRNP	20	4680258	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	517323	4680258	58345262	1308	27282										
RASSF2	9770	genome.wustl.edu	37	chr20	4776485	4776485	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcccccaggttacagccaGagtgccaggaggaggaggat	16	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:4776485G>C	ENST00000379400.3	-	5	458	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Missense_Mutation_p.S88C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	88					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTTACAGCCAGAGTGCCAGGA	0.592																																					Melanoma(158;1891 3343 50738)												0													125	120	121					20																	4776485		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.263C>G	20.37:g.4776485G>C	ENSP00000368710:p.Ser88Cys		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.S88C	ENST00000379400.3	37	c.263	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572164	0.86542	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.11495	2.77;2.77	5.13	5.13	0.70059	.	0.054606	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.09357	-1.0678	10	0.56958	D	0.05	.	17.3318	0.87267	0.0:0.0:1.0:0.0	.	88	P50749	RASF2_HUMAN	C	88	ENSP00000368710:S88C;ENSP00000368684:S88C	ENSP00000368684:S88C	S	-	2	0	RASSF2	4724485	1.000000	0.71417	0.959000	0.39883	0.957000	0.61999	8.915000	0.92740	2.665000	0.90641	0.563000	0.77884	TCT	RASSF2	-	NULL		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	G	NM_014737		4776485	-1	no_errors	ENST00000379376	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4776485	G	C	4776485	3	2	153	1	0	0	0	0	1	0	0	0	13116	942	33	1	749	1	RASSF2	20	4776485	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	96227	4776485	58249035	1309	27283										
LRRN4	164312	genome.wustl.edu	37	chr20	6031429	6031429	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctcagaagcacttacttctGgaacagaaggacctgtagat	9	10	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:6031429G>A	ENST00000378858.4	-	3	1080	c.856C>T	c.(856-858)Cag>Tag	p.Q286*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	286					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.Q286K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						ACTTACTTCTGGAACAGAAGG	0.453																																																	1	Substitution - Missense(1)	endometrium(1)											152	150	151					20																	6031429		2203	4300	6503	SO:0001587	stop_gained	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.856C>T	20.37:g.6031429G>A	ENSP00000368135:p.Gln286*		A8K258|Q5JWV6|Q9H419	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q286*	ENST00000378858.4	37	c.856	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	38	6.825218	0.97865	.	.	ENSG00000125872	ENST00000378858	.	.	.	5.68	5.68	0.88126	.	0.191164	0.36034	N	0.002838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.1996	0.73126	0.0:0.2582:0.7418:0.0	.	.	.	.	X	286	.	ENSP00000368135:Q286X	Q	-	1	0	LRRN4	5979429	1.000000	0.71417	0.972000	0.41901	0.765000	0.43378	3.301000	0.51842	2.690000	0.91761	0.491000	0.48974	CAG	LRRN4	-	smart_Leu-rich_rpt_typical-subtyp		0.453	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	G	NM_152611		6031429	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	nonsense	SNP	0.963	A	A	6031429	G	A	6031429	4	1	153	1	0	0	0	0	0	1	0	0	9060	1357	47	4	1378	4	LRRN4	20	6031429	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1254944	6031429	56994091	1310	27284										
TMX4	56255	genome.wustl.edu	37	chr20	7963053	7963053	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcctctcctgggggcccctGatcattggcctcacttctct	9	16	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:7963053G>A	ENST00000246024.2	-	8	1110	c.895C>T	c.(895-897)Cag>Tag	p.Q299*		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	299	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GGGGGCCCCTGATCATTGGCC	0.567																																																	0													156	132	140					20																	7963053		2203	4300	6503	SO:0001587	stop_gained	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.895C>T	20.37:g.7963053G>A	ENSP00000246024:p.Gln299*		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.Q299*	ENST00000246024.2	37	c.895	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.126110	0.97305	.	.	ENSG00000125827	ENST00000246024	.	.	.	5.01	5.01	0.66863	.	0.782162	0.11575	N	0.550393	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.4331	14.0058	0.64463	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000246024:Q299X	Q	-	1	0	TMX4	7911053	0.067000	0.21026	0.012000	0.15200	0.435000	0.31806	2.290000	0.43531	2.763000	0.94921	0.557000	0.71058	CAG	TMX4	-	NULL		0.567	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	HGNC	protein_coding	OTTHUMT00000077928.2	G	NM_021156		7963053	-1	no_errors	ENST00000246024	ensembl	human	known	70_37	nonsense	SNP	0.073	A	A	7963053	G	A	7963053	4	1	153	1	0	0	0	0	0	1	0	0	16299	1299	45	1	158	1	TMX4	20	7963053	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1931624	7963053	55062467	1311	27285										
TMX4	56255	genome.wustl.edu	37	chr20	7982144	7982144	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaagattatttaaacttactGaaaaaatgctgggagagtgg	11	3	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:7982144G>A	ENST00000246024.2	-	3	552	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	113	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TAAACTTACTGAAAAAATGCT	0.358																																																	0													50	50	50					20																	7982144		2203	4300	6503	SO:0001630	splice_region_variant	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.338+1C>T	20.37:g.7982144G>A			Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.H113Y	ENST00000246024.2	37	c.337	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103968	0.76983	.	.	ENSG00000125827	ENST00000246024	T	0.15952	2.38	4.95	4.95	0.65309	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.306075	0.31210	N	0.008049	T	0.35307	0.0927	M	0.69358	2.11	0.80722	D	1	P	0.48407	0.91	P	0.60473	0.875	T	0.06445	-1.0826	10	0.11182	T	0.66	-15.5953	17.3457	0.87309	0.0:0.0:1.0:0.0	.	113	Q9H1E5	TMX4_HUMAN	Y	113	ENSP00000246024:H113Y	ENSP00000246024:H113Y	H	-	1	0	TMX4	7930144	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.651000	0.74372	2.466000	0.83321	0.455000	0.32223	CAT	TMX4	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.358	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	HGNC	protein_coding	OTTHUMT00000077928.2	G	NM_021156	Missense_Mutation	7982144	-1	no_errors	ENST00000246024	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7982144	G	A	7982144	5	1	153	1	0	0	0	0	0	0	1	0	16299	1304	45	1	736	1	TMX4	20	7982144	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	19091	7982144	55043376	1312	27286										
PAK7	57144	genome.wustl.edu	37	chr20	9543638	9543638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctgctgtacatgtcaaccaCattgtcatggtggtaatccc	9	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:9543638C>A	ENST00000378429.3	-	7	2062	c.1516G>T	c.(1516-1518)Gtg>Ttg	p.V506L	PAK7_ENST00000378423.1_Missense_Mutation_p.V506L|PAK7_ENST00000353224.5_Missense_Mutation_p.V506L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	506	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGTCAACCACATTGTCATGG	0.483																																																	0													195	174	181					20																	9543638		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1516G>T	20.37:g.9543638C>A	ENSP00000367686:p.Val506Leu		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.V506L	ENST00000378429.3	37	c.1516	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.268986	0.95429	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.67345	-0.26;-0.26;-0.26	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	N	0.21240	0.645	0.80722	D	1	D;D	0.53312	0.959;0.959	P;P	0.59424	0.857;0.857	T	0.65631	-0.6121	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	506;506	B0AZM9;Q9P286	.;PAK7_HUMAN	L	506;506;506;454	ENSP00000367686:V506L;ENSP00000322957:V506L;ENSP00000367679:V506L	.	V	-	1	0	PAK7	9491638	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	7.747000	0.85070	2.941000	0.99782	0.655000	0.94253	GTG	PAK7	-	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		0.483	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	C			9543638	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9543638	C	A	9543638	3	1	153	1	0	0	0	0	1	0	0	0	11429	478	17	4	663	4	PAK7	20	9543638	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1561494	9543638	53481882	1313	27287										
XRN2	22803	genome.wustl.edu	37	chr20	21335437	21335437	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttttttcaggtgttgctctCttgccattcgtggatgagcg	12	8	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:21335437C>T	ENST00000377191.3	+	21	2042	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	XRN2_ENST00000430571.2_Silent_p.L573L|XRN2_ENST00000539513.1_Silent_p.L595L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	649					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTGTTGCTCTCTTGCCATTCG	0.438																																																	0													151	127	135					20																	21335437		2203	4300	6503	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1947C>T	20.37:g.21335437C>T			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.L649	ENST00000377191.3	37	c.1947	CCDS13144.1	20																																																																																			XRN2	-	pirsf_5_3_exoribonuclease_2		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21335437	1	no_errors	ENST00000377191	ensembl	human	known	70_37	silent	SNP	0.193	T	T	21335437	C	T	21335437	2	4	153	1	0	0	0	0	0	0	0	1	17491	900	32	1		1	XRN2	20	21335437	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11791799	21335437	41690083	1314	27288										
DEFB116	245930	genome.wustl.edu	37	chr20	29896334	29896334	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgagttacctggagtcttttGagccaggatcataaggatgg	13	6	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:29896334G>A	ENST00000400549.1	-	1	54	c.55C>T	c.(55-57)Caa>Taa	p.Q19*		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	19			Q -> L (in dbSNP:rs6119768).		defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGTCTTTTGAGCCAGGATC	0.478																																																	0													174	171	172					20																	29896334		2002	4161	6163	SO:0001587	stop_gained	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"Defensins, beta"	18097	protein-coding gene	gene with protein product	"defensin, beta 16"					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.55C>T	20.37:g.29896334G>A	ENSP00000383396:p.Gln19*			Nonsense_Mutation	SNP	NULL	p.Q19*	ENST00000400549.1	37	c.55	CCDS42860.1	20	.	.	.	.	.	.	.	.	.	.	G	14.13	2.445029	0.43429	.	.	ENSG00000215545	ENST00000400549	.	.	.	4.13	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-13.3435	5.6332	0.17522	0.1102:0.2105:0.6793:0.0	.	.	.	.	X	19	.	ENSP00000383396:Q19X	Q	-	1	0	DEFB116	29359995	0.990000	0.36364	0.198000	0.23420	0.257000	0.26127	0.389000	0.20751	0.660000	0.30964	0.655000	0.94253	CAA	DEFB116	-	NULL		0.478	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB116	HGNC	protein_coding	OTTHUMT00000354403.1	G	NM_001037731		29896334	-1	no_errors	ENST00000400549	ensembl	human	known	70_37	nonsense	SNP	0.256	A	A	29896334	G	A	29896334	4	1	153	1	0	0	0	0	0	1	0	0	4414	1299	45	1	260	1	DEFB116	20	29896334	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	8560897	29896334	33129186	1315	27289										
COMMD7	149951	genome.wustl.edu	37	chr20	31291246	31291246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgcaggaagctgtagaactGaggcaaggttaattctgggg	16	5	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:31291246G>A	ENST00000278980.6	-	9	1146	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	COMMD7_ENST00000446419.2_Nonsense_Mutation_p.Q180*	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	181	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						CTGTAGAACTGAGGCAAGGTT	0.478																																																	0													84	87	86					20																	31291246		1911	4120	6031	SO:0001587	stop_gained	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 92"	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.541C>T	20.37:g.31291246G>A	ENSP00000278980:p.Gln181*		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Nonsense_Mutation	SNP	pfam_HCaRG	p.Q181*	ENST00000278980.6	37	c.541	CCDS42864.1	20	.	.	.	.	.	.	.	.	.	.	g	41	8.647696	0.98899	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	.	.	.	5.38	4.43	0.53597	.	0.287422	0.35646	N	0.003072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.3866	0.60799	0.0:0.1575:0.8425:0.0	.	.	.	.	X	181;180	.	ENSP00000278980:Q181X	Q	-	1	0	COMMD7	30754907	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.470000	0.80973	1.489000	0.48450	0.655000	0.94253	CAG	COMMD7	-	pfam_HCaRG		0.478	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COMMD7	HGNC	protein_coding	OTTHUMT00000078648.2	G	NM_053041		31291246	-1	no_errors	ENST00000278980	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31291246	G	A	31291246	4	1	153	1	0	0	0	0	0	1	0	0	3726	1299	45	1	65	1	COMMD7	20	31291246	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1394912	31291246	31734274	1316	27290										
BPIL1	80341	genome.wustl.edu	37	chr20	31608159	31608159	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaacttgagactccagctctCtgtgtccaaggtgaagcttc	10	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:31608159C>G	ENST00000170150.3	+	12	1301	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	369						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.S369F(1)									CTCCAGCTCTCTGTGTCCAAG	0.617																																																	1	Substitution - Missense(1)	skin(1)											110	95	100					20																	31608159		2203	4300	6503	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1106C>G	20.37:g.31608159C>G	ENSP00000170150:p.Ser369Cys		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.S369C	ENST00000170150.3	37	c.1106	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522345	0.44866	.	.	ENSG00000078898	ENST00000170150	T	0.10763	2.84	4.24	3.3	0.37823	.	0.264028	0.27531	N	0.018956	T	0.25717	0.0626	M	0.74647	2.275	0.33936	D	0.642676	D	0.67145	0.996	P	0.62649	0.905	T	0.35649	-0.9780	10	0.56958	D	0.05	-11.0811	7.9208	0.29846	0.0:0.8896:0.0:0.1104	.	369	Q8N4F0	BPIB2_HUMAN	C	369	ENSP00000170150:S369C	ENSP00000170150:S369C	S	+	2	0	BPIFB2	31071820	0.001000	0.12720	0.953000	0.39169	0.811000	0.45836	-0.068000	0.11561	1.383000	0.46405	0.561000	0.74099	TCT	BPIFB2	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.617	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	C	NM_025227		31608159	1	no_errors	ENST00000170150	ensembl	human	known	70_37	missense	SNP	0.959	G	G	31608159	C	G	31608159	3	3	153	1	0	0	0	0	1	0	0	0	1494	913	32	1	1148	1	BPIL1	20	31608159	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	316913	31608159	31417361	1317	27291										
ZNF341	84905	genome.wustl.edu	37	chr20	32345025	32345025	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agccctggcaaacagggattCaaacccaaaggaccaaaccc	8	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:32345025C>A	ENST00000375200.1	+	6	1178	c.813C>A	c.(811-813)ttC>ttA	p.F271L	ZNF341_ENST00000342427.2_Missense_Mutation_p.F271L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AACAGGGATTCAAACCCAAAG	0.597																																																	0													116	115	115					20																	32345025		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.813C>A	20.37:g.32345025C>A	ENSP00000364346:p.Phe271Leu		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F271L	ENST00000375200.1	37	c.813		20	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324468	0.81580	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.08807	3.17;3.05	5.87	5.87	0.94306	.	0.206127	0.53938	D	0.000058	T	0.06645	0.0170	N	0.17082	0.46	0.43283	D	0.995259	B;B;B	0.15141	0.007;0.007;0.012	B;B;B	0.14578	0.005;0.005;0.011	T	0.40997	-0.9533	10	0.30854	T	0.27	-18.96	14.7159	0.69269	0.0:0.931:0.0:0.069	.	212;271;271	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	L	271	ENSP00000344308:F271L;ENSP00000364346:F271L	ENSP00000344308:F271L	F	+	3	2	ZNF341	31808686	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.227000	0.42972	2.941000	0.99782	0.655000	0.94253	TTC	ZNF341	-	NULL		0.597	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		C			32345025	1	no_errors	ENST00000375200	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32345025	C	A	32345025	3	1	153	1	0	0	0	0	1	0	0	0	17887	825	29	3	835	3	ZNF341	20	32345025	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	736866	32345025	30680495	1318	27292										
NCOA6	23054	genome.wustl.edu	37	chr20	33328287	33328287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cggtacggcggagatgagctCggagggtaccagagtggtta	18	7	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:33328287C>T	ENST00000374796.2	-	12	8343	c.5773G>A	c.(5773-5775)Gag>Aag	p.E1925K	NCOA6_ENST00000359003.2_Missense_Mutation_p.E1925K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1925	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAGATGAGCTCGGAGGGTACC	0.602																																																	0													57	50	52					20																	33328287		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5773G>A	20.37:g.33328287C>T	ENSP00000363929:p.Glu1925Lys		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.E1925K	ENST00000374796.2	37	c.5773	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833540	0.91036	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25414	1.8;1.8	5.51	5.51	0.81932	.	0.093830	0.46442	D	0.000295	T	0.18087	0.0434	N	0.24115	0.695	0.40324	D	0.978851	P	0.47253	0.892	B	0.35859	0.212	T	0.02942	-1.1091	10	0.48119	T	0.1	-9.2363	17.783	0.88529	0.0:1.0:0.0:0.0	.	1925	Q14686	NCOA6_HUMAN	K	1925	ENSP00000363929:E1925K;ENSP00000351894:E1925K	ENSP00000351894:E1925K	E	-	1	0	NCOA6	32791948	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.828000	0.62730	2.873000	0.98535	0.561000	0.74099	GAG	NCOA6	-	NULL		0.602	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	C	NM_014071		33328287	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33328287	C	T	33328287	3	4	153	1	0	0	0	0	1	0	0	0	10257	893	31	1	438	1	NCOA6	20	33328287	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	983262	33328287	29697233	1319	27293										
NCOA6	23054	genome.wustl.edu	37	chr20	33337504	33337504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccctgcatggcctgcacatGaggggggaccatgttggttt	14	10	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:33337504G>A	ENST00000374796.2	-	10	5064	c.2494C>T	c.(2494-2496)Cat>Tat	p.H832Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.H832Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	832	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCCTGCACATGAGGGGGGACC	0.493																																																	0													119	110	113					20																	33337504		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2494C>T	20.37:g.33337504G>A	ENSP00000363929:p.His832Tyr		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.H832Y	ENST00000374796.2	37	c.2494	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216517	0.79352	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.30182	1.54;1.54	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.39989	0.1099	L	0.29908	0.895	0.58432	D	0.999999	D	0.63880	0.993	P	0.55508	0.777	T	0.04255	-1.0965	10	0.38643	T	0.18	-7.4856	19.9785	0.97317	0.0:0.0:1.0:0.0	.	832	Q14686	NCOA6_HUMAN	Y	832	ENSP00000363929:H832Y;ENSP00000351894:H832Y	ENSP00000351894:H832Y	H	-	1	0	NCOA6	32801165	1.000000	0.71417	0.480000	0.27341	0.736000	0.42039	6.170000	0.71920	2.720000	0.93068	0.563000	0.77884	CAT	NCOA6	-	NULL		0.493	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	G	NM_014071		33337504	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33337504	G	A	33337504	3	1	153	1	0	0	0	0	1	0	0	0	10257	1290	45	1	3725	1	NCOA6	20	33337504	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	9217	33337504	29688016	1320	27294										
GDF5	8200	genome.wustl.edu	37	chr20	34021779	34021779	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgttgttggcagagtcaatGaagaggatgctgatgggact	15	5	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:34021779G>A	ENST00000374372.1	-	4	1937	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	GDF5_ENST00000374369.3_Silent_p.F478F|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	478					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGAGTCAATGAAGAGGATGC	0.572																																																	0													124	108	113					20																	34021779		2203	4300	6503	SO:0001819	synonymous_variant	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1434C>T	20.37:g.34021779G>A			E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.F478	ENST00000374372.1	37	c.1434	CCDS13254.1	20																																																																																			GDF5	-	pfam_TGF-b_C,smart_TGF-b_C		0.572	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	G			34021779	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34021779	G	A	34021779	2	1	153	1	0	0	0	0	0	0	0	1	6335	1281	45	1		1	GDF5	20	34021779	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	684275	34021779	29003741	1321	27295										
CEP250	11190	genome.wustl.edu	37	chr20	34090757	34090757	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaaggatcgggagactcaGaggaacgtcttggagcatca	15	7	3	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:34090757G>A	ENST00000397527.1	+	30	5280	c.4560G>A	c.(4558-4560)caG>caA	p.Q1520Q	CEP250_ENST00000342580.4_Silent_p.Q1464Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1520	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGGAGACTCAGAGGAACGTCT	0.512																																																	0													62	67	65					20																	34090757		2203	4300	6503	SO:0001819	synonymous_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4560G>A	20.37:g.34090757G>A			E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.Q1520	ENST00000397527.1	37	c.4560	CCDS13255.1	20																																																																																			CEP250	-	NULL		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	G	NM_007186		34090757	1	no_errors	ENST00000397527	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34090757	G	A	34090757	2	1	153	1	0	0	0	0	0	0	0	1	3257	933	33	1		1	CEP250	20	34090757	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	68978	34090757	28934763	1322	27296										
PHF20	51230	genome.wustl.edu	37	chr20	34526643	34526643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgggagcatcctgatctgccGctgtggtgccagccttggaa	14	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:34526643G>A	ENST00000374012.3	+	16	2454	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	775					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTGATCTGCCGCTGTGGTGCC	0.532																																																	0													117	122	120					20																	34526643		2203	4300	6503	SO:0001819	synonymous_variant	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2325G>A	20.37:g.34526643G>A			A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.P775	ENST00000374012.3	37	c.2325	CCDS13268.1	20																																																																																			PHF20	-	NULL		0.532	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	G	NM_016436		34526643	1	no_errors	ENST00000374012	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34526643	G	A	34526643	2	1	153	1	0	0	0	0	0	0	0	1	11855	1074	38	2		2	PHF20	20	34526643	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	435886	34526643	28498877	1323	27297										
KIAA0406	9675	genome.wustl.edu	37	chr20	36640387	36640387	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aaatagtgggacttggctttGagaaggctagaaaagatgta	13	3	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:36640387G>C	ENST00000373448.2	-	3	2070	c.1832C>G	c.(1831-1833)tCa>tGa	p.S611*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.S611*|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Nonsense_Mutation_p.S611*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	611					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACTTGGCTTTGAGAAGGCTAG	0.473																																																	0													144	142	142					20																	36640387		2203	4300	6503	SO:0001587	stop_gained	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1832C>G	20.37:g.36640387G>C	ENSP00000362547:p.Ser611*		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.S611*	ENST00000373448.2	37	c.1832	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	37	5.986101	0.97173	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.0242	16.1065	0.81225	0.0:0.0:1.0:0.0	.	.	.	.	X	611	.	ENSP00000362546:S611X	S	-	2	0	TTI1	36073801	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.708000	0.84633	2.719000	0.93026	0.655000	0.94253	TCA	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.473	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	G	NM_014657		36640387	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	36640387	G	C	36640387	4	2	153	1	0	0	0	0	0	1	0	0	8193	1294	45	1	1465	1	KIAA0406	20	36640387	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2113744	36640387	26385133	1324	27298										
ZHX3	23051	genome.wustl.edu	37	chr20	39831522	39831522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcctcttcctcctgagaggCattctcctcagccttcttgg	7	16	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:39831522C>T	ENST00000309060.3	-	4	2450	c.2035G>A	c.(2035-2037)Gcc>Acc	p.A679T	ZHX3_ENST00000559234.1_Missense_Mutation_p.A679T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A679T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A679T|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.A679T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A679T|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	679					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCCTGAGAGGCATTCTCCTCA	0.498																																																	0													130	126	128					20																	39831522		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2035G>A	20.37:g.39831522C>T	ENSP00000312222:p.Ala679Thr		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.A679T	ENST00000309060.3	37	c.2035	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.347|3.347	-0.133341|-0.133341	0.06711|0.06711	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.13089|.	2.83;2.83;2.62|.	6.06|6.06	-0.624|-0.624	0.11552|0.11552	Homeodomain-related (1);Homeodomain-like (1);|.	0.925515|.	0.09237|.	N|.	0.829741|.	T|T	0.34366|0.34366	0.0895|0.0895	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.0;0.0;0.002|.	B;B;B|.	0.09377|.	0.001;0.001;0.004|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.14252|.	T|.	0.57|.	-0.293|-0.293	2.5408|2.5408	0.04725|0.04725	0.1181:0.4604:0.229:0.1925|0.1181:0.4604:0.229:0.1925	.|.	679;679;679|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	T|Y	679;679;679;679;457|387	ENSP00000362360:A679T;ENSP00000442290:A679T;ENSP00000443783:A679T|.	ENSP00000312222:A679T|.	A|C	-|-	1|2	0|0	ZHX3|ZHX3	39264936|39264936	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.321000|0.321000	0.28281|0.28281	0.118000|0.118000	0.15605|0.15605	-0.297000|-0.297000	0.08934|0.08934	-0.133000|-0.133000	0.14855|0.14855	GCC|TGC	ZHX3	-	superfamily_Homeodomain-like		0.498	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831522	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39831522	C	T	39831522	3	4	153	1	0	0	0	0	1	0	0	0	17707	710	25	4	843	4	ZHX3	20	39831522	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3191135	39831522	23193998	1325	27299										
MYBL2	4605	genome.wustl.edu	37	chr20	42320836	42320836	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aatcactggaactctaccatCaaaaggaaggtggacacagg	10	9	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:42320836C>G	ENST00000217026.4	+	6	667	c.540C>G	c.(538-540)atC>atG	p.I180M	MYBL2_ENST00000396863.4_Missense_Mutation_p.I156M	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	180	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTCTACCATCAAAAGGAAGG	0.582																																																	0													93	87	89					20																	42320836		2203	4300	6503	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.540C>G	20.37:g.42320836C>G	ENSP00000217026:p.Ile180Met		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I180M	ENST00000217026.4	37	c.540	CCDS13322.1	20	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863199	0.32884	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15834	2.39;2.42	5.04	5.04	0.67666	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	N	0.02876	-0.465	0.80722	D	1	B;B	0.33103	0.126;0.397	B;P	0.56916	0.445;0.809	T	0.10064	-1.0646	10	0.02654	T	1	-32.6312	18.0207	0.89253	0.0:1.0:0.0:0.0	.	156;180	F8W6N6;P10244	.;MYBB_HUMAN	M	156;180	ENSP00000380072:I156M;ENSP00000217026:I180M	ENSP00000217026:I180M	I	+	3	3	MYBL2	41754250	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.084000	0.50143	2.707000	0.92482	0.650000	0.86243	ATC	MYBL2	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.582	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	C	NM_002466		42320836	1	no_errors	ENST00000217026	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42320836	C	G	42320836	3	3	153	1	0	0	0	0	1	0	0	0	10033	816	29	1	562	1	MYBL2	20	42320836	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2489314	42320836	20704684	1326	27300										
TOX2	84969	genome.wustl.edu	37	chr20	42683061	42683061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcctacgcactcttcttcagAgacactcaggccgccatcaa	7	16	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:42683061A>T	ENST00000358131.5	+	5	1009	c.801A>T	c.(799-801)agA>agT	p.R267S	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R216S|TOX2_ENST00000423191.2_Missense_Mutation_p.R216S|TOX2_ENST00000341197.4_Missense_Mutation_p.R258S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	267					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCTTCAGAGACACTCAGG	0.562																																																	0													69	62	65					20																	42683061		2203	4300	6503	SO:0001583	missense	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.801A>T	20.37:g.42683061A>T	ENSP00000350849:p.Arg267Ser		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R258S	ENST00000358131.5	37	c.774	CCDS42875.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.157074|4.157074	0.78114|0.78114	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000372992;ENST00000413823|ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.|D;D;D;D;D	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54	5.44|5.44	1.54|1.54	0.23209|0.23209	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96812|0.96812	0.8959|0.8959	L|L	0.31420|0.31420	0.93|0.93	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|0.997;0.996;0.991;1.0;0.997	.|D;D;D;D;D	.|0.87578	.|0.967;0.974;0.991;0.998;0.985	D|D	0.94733|0.94733	0.7911|0.7911	6|10	0.87932|0.45353	D|T	0|0.12	.|.	9.4329|9.4329	0.38622|0.38622	0.7552:0.0:0.2448:0.0|0.7552:0.0:0.2448:0.0	.|.	.|136;258;216;267;216	.|B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.|.;.;.;TOX2_HUMAN;.	V|S	24|258;216;216;267;136	.|ENSP00000344724:R258S;ENSP00000390278:R216S;ENSP00000362090:R216S;ENSP00000350849:R267S;ENSP00000396777:R136S	ENSP00000362083:E24V|ENSP00000344724:R258S	E|R	+|+	2|3	0|2	TOX2|TOX2	42116475|42116475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.872000|1.872000	0.39549|0.39549	0.390000|0.390000	0.25115|0.25115	0.528000|0.528000	0.53228|0.53228	GAG|AGA	TOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.562	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	A			42683061	1	no_errors	ENST00000341197	ensembl	human	known	70_37	missense	SNP	0.997	T	T	42683061	A	T	42683061	3	4	153	1	0	0	0	0	1	0	0	0	16409	301	11	5	922	5	TOX2	20	42683061	Missense_Mutation	SNP	A	TCGA-IR-A3LK-01A-12D-A20U-09	362225	42683061	20342459	1327	27301										
TOMM34	10953	genome.wustl.edu	37	chr20	43577512	43577512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctttctccacatccccagcaGaaggcactagatacaaattc	5	14	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:43577512G>C	ENST00000372813.3	-	5	709	c.557C>G	c.(556-558)tCt>tGt	p.S186C	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	186					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				ATCCCCAGCAGAAGGCACTAG	0.448																																																	0													109	92	98					20																	43577512		2203	4300	6503	SO:0001583	missense	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.557C>G	20.37:g.43577512G>C	ENSP00000361900:p.Ser186Cys		Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S186C	ENST00000372813.3	37	c.557	CCDS13340.1	20	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869661	0.72065	.	.	ENSG00000025772	ENST00000372813	T	0.79845	-1.31	5.55	5.55	0.83447	.	0.790664	0.11530	N	0.554766	D	0.83585	0.5286	L	0.56199	1.76	0.41605	D	0.988878	D	0.63880	0.993	P	0.49999	0.628	T	0.81959	-0.0694	10	0.46703	T	0.11	-24.9847	17.4437	0.87573	0.0:0.0:1.0:0.0	.	186	Q15785	TOM34_HUMAN	C	186	ENSP00000361900:S186C	ENSP00000361900:S186C	S	-	2	0	TOMM34	43010926	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.350000	0.52224	2.890000	0.99128	0.585000	0.79938	TCT	TOMM34	-	NULL		0.448	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	G	NM_006809		43577512	-1	no_errors	ENST00000372813	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43577512	G	C	43577512	3	2	153	1	0	0	0	0	1	0	0	0	16387	942	33	1	384	1	TOMM34	20	43577512	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	894451	43577512	19448008	1328	27302										
CTSA	5476	genome.wustl.edu	37	chr20	44521502	44521502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccgtgctggtcatgcaggatCccagcatgaaccttcaggtg	12	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:44521502C>T	ENST00000372459.2	+	5	776	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	CTSA_ENST00000191018.5_Missense_Mutation_p.P195S|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Missense_Mutation_p.P213S|CTSA_ENST00000354880.5_Missense_Mutation_p.P196S|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	195					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CATGCAGGATCCCAGCATGAA	0.557																																																	0													48	46	47					20																	44521502		2203	4300	6503	SO:0001583	missense	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.583C>T	20.37:g.44521502C>T	ENSP00000361537:p.Pro195Ser		B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.P213S	ENST00000372459.2	37	c.637	CCDS46609.1	20	.	.	.	.	.	.	.	.	.	.	C	2.360	-0.346932	0.05208	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.15	2.09	0.27110	.	0.336917	0.35179	N	0.003396	T	0.70885	0.3275	L	0.33668	1.02	0.37455	D	0.914974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56595	-0.7953	10	0.08381	T	0.77	-9.6959	5.7972	0.18394	0.0:0.6349:0.1399:0.2252	.	195;195;212	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	S	196;213;195;178;195	ENSP00000346952:P196S;ENSP00000361562:P213S;ENSP00000191018:P195S;ENSP00000408533:P178S;ENSP00000361537:P195S	ENSP00000191018:P195S	P	+	1	0	CTSA	43954909	0.002000	0.14202	0.970000	0.41538	0.989000	0.77384	-0.033000	0.12246	0.175000	0.19841	0.609000	0.83330	CCC	CTSA	-	pfam_Peptidase_S10		0.557	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	C	NM_000308		44521502	1	no_errors	ENST00000372484	ensembl	human	known	70_37	missense	SNP	0.897	T	T	44521502	C	T	44521502	3	4	153	1	0	0	0	0	1	0	0	0	4034	855	30	1	659	1	CTSA	20	44521502	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	943990	44521502	18504018	1329	27303										
ZMYND8	23613	genome.wustl.edu	37	chr20	45853105	45853105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccactgcttcttcttggtctCatccaccgcctgctgcttct	6	17	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:45853105C>T	ENST00000311275.7	-	19	3314	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	ZMYND8_ENST00000372023.3_Missense_Mutation_p.E943K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E912K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E889K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E970K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E969K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E1021K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E1041K|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E975K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E1021K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E995K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E1048K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E995K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1021					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTCTTGGTCTCATCCACCGCC	0.592																																																	0													229	186	201					20																	45853105		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3061G>A	20.37:g.45853105C>T	ENSP00000312237:p.Glu1021Lys		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.E1048K	ENST00000311275.7	37	c.3142		20	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001491	0.93227	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	M	0.80982	2.52	0.58432	D	0.999993	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.007;0.999;0.997;0.998;0.999;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.996;0.995;0.998;0.997	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.012;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.983;0.98;0.991;0.995	T	0.77930	-0.2403	10	0.87932	D	0	-9.5423	14.4075	0.67093	0.0:0.9289:0.0:0.0711	.	889;1048;943;950;1041;975;970;995;995;1021;912;970;969;914;923;1021	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	K	970;1021;889;976;1042;995;1021;1048;1021;912;995;943;969	ENSP00000354166:E970K;ENSP00000312237:E1021K;ENSP00000392964:E889K;ENSP00000335537:E995K;ENSP00000379577:E1021K;ENSP00000439800:E1048K;ENSP00000348246:E1021K;ENSP00000396725:E912K;ENSP00000418210:E995K;ENSP00000361093:E943K;ENSP00000443086:E969K	ENSP00000262975:E976K	E	-	1	0	ZMYND8	45286512	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.767000	0.85331	1.291000	0.44653	0.655000	0.94253	GAG	ZMYND8	-	NULL		0.592	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45853105	-1	no_errors	ENST00000536340	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45853105	C	T	45853105	3	4	153	1	0	0	0	0	1	0	0	0	17741	835	29	1	603	1	ZMYND8	20	45853105	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1331603	45853105	17172415	1330	27304										
PREX1	57580	genome.wustl.edu	37	chr20	47256415	47256415	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccggccacggattgtacactCttctttctgtttaaactctg	7	12	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:47256415C>T	ENST00000371941.3	-	30	3815	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.E1265K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1265					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATTGTACACTCTTCTTTCTGT	0.552																																																	0													128	128	128					20																	47256415		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3793G>A	20.37:g.47256415C>T	ENSP00000361009:p.Glu1265Lys		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E1265K	ENST00000371941.3	37	c.3793	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.643370	0.96704	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37235	1.21;1.21	5.19	5.19	0.71726	.	0.116329	0.36200	U	0.002739	T	0.45597	0.1350	M	0.63843	1.955	0.49389	D	0.999785	P;P	0.41929	0.658;0.765	B;B	0.43783	0.358;0.431	T	0.50725	-0.8794	10	0.87932	D	0	.	19.1577	0.93518	0.0:1.0:0.0:0.0	.	1265;562	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	K	1265	ENSP00000361009:E1265K;ENSP00000379522:E1265K	ENSP00000361009:E1265K	E	-	1	0	PREX1	46689822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.635000	0.67841	2.590000	0.87494	0.650000	0.86243	GAG	PREX1	-	NULL		0.552	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820		47256415	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47256415	C	T	47256415	3	4	153	1	0	0	0	0	1	0	0	0	12503	922	32	1	1230	1	PREX1	20	47256415	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1403310	47256415	15769105	1331	27305										
DDX27	55661	genome.wustl.edu	37	chr20	47850216	47850216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcatccggatccggcctaatCgtgaaggagaccgggaagcc	13	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:47850216C>T	ENST00000371764.4	+	11	1345	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	446						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCGGCCTAATCGTGAAGGAGA	0.577																																																	0													74	73	73					20																	47850216		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1336C>T	20.37:g.47850216C>T	ENSP00000360828:p.Arg446Cys		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R446C	ENST00000371764.4	37	c.1336	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343412	0.61073	.	.	ENSG00000124228	ENST00000371764	T	0.01665	4.7	5.97	5.01	0.66863	.	0.098803	0.64402	D	0.000002	T	0.13286	0.0322	M	0.90542	3.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.00668	-1.1618	10	0.87932	D	0	-22.1339	13.9252	0.63958	0.1581:0.8419:0.0:0.0	.	446	Q96GQ7	DDX27_HUMAN	C	446	ENSP00000360828:R446C	ENSP00000360828:R446C	R	+	1	0	DDX27	47283623	1.000000	0.71417	0.986000	0.45419	0.371000	0.29859	1.645000	0.37238	1.474000	0.48178	0.655000	0.94253	CGT	DDX27	-	NULL		0.577	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	C			47850216	1	no_errors	ENST00000371764	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47850216	C	T	47850216	3	4	153	1	0	0	0	0	1	0	0	0	4359	884	31	1	1378	1	DDX27	20	47850216	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	593801	47850216	15175304	1332	27306										
BCAS4	55653	genome.wustl.edu	37	chr20	49458338	49458338	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttggacaccacgtcgccttCctggaagcagacgtgcttca	11	13	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:49458338C>G	ENST00000358791.5	+	4	490	c.390C>G	c.(388-390)ttC>ttG	p.F130L	BCAS4_ENST00000371608.2_Missense_Mutation_p.F130L|BCAS4_ENST00000262591.5_Intron|BCAS4_ENST00000609336.1_Missense_Mutation_p.F100L	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	130						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACGTCGCCTTCCTGGAAGCAG	0.642																																																	0													70	55	60					20																	49458338		2203	4300	6503	SO:0001583	missense	55653			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.390C>G	20.37:g.49458338C>G	ENSP00000351642:p.Phe130Leu		Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	NULL	p.F130L	ENST00000358791.5	37	c.390	CCDS33487.1	20	.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413923	0.04799	.	.	ENSG00000124243	ENST00000358791;ENST00000355583;ENST00000371608	T;T	0.43294	1.95;0.95	4.48	2.5	0.30297	.	0.356145	0.29791	N	0.011191	T	0.23410	0.0566	N	0.17474	0.49	0.80722	D	1	B;B	0.19935	0.015;0.04	B;B	0.23018	0.011;0.043	T	0.04386	-1.0955	10	0.25106	T	0.35	-10.8147	7.4603	0.27291	0.0:0.7884:0.0:0.2116	.	130;130	Q8TDM0-3;Q8TDM0	.;BCAS4_HUMAN	L	130	ENSP00000351642:F130L;ENSP00000360669:F130L	ENSP00000347789:F130L	F	+	3	2	BCAS4	48891745	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	0.971000	0.29396	0.890000	0.36211	0.561000	0.74099	TTC	BCAS4	-	NULL		0.642	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS4	HGNC	protein_coding	OTTHUMT00000079700.1	C	NM_017843		49458338	1	no_errors	ENST00000358791	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49458338	C	G	49458338	3	3	153	1	0	0	0	0	1	0	0	0	1354	854	30	1	404	1	BCAS4	20	49458338	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1608122	49458338	13567182	1333	27307										
CYP24A1	1591	genome.wustl.edu	37	chr20	52774666	52774666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acccagaactgttgccttgtCaagagtccgagttgtaaatg	10	9	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:52774666C>G	ENST00000216862.3	-	9	1588	c.1195G>C	c.(1195-1197)Gac>Cac	p.D399H	CYP24A1_ENST00000395954.3_Missense_Mutation_p.D257H|CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395955.3_Missense_Mutation_p.D399H	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	399					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.D399N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTGCCTTGTCAAGAGTCCGA	0.378																																																	1	Substitution - Missense(1)	lung(1)											89	86	87					20																	52774666		2203	4300	6503	SO:0001583	missense	1591			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1195G>C	20.37:g.52774666C>G	ENSP00000216862:p.Asp399His		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D399H	ENST00000216862.3	37	c.1195	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746942	0.89663	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.68331	-0.32;-0.32;-0.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.996	T	0.81389	-0.0955	10	0.54805	T	0.06	-22.0998	18.6106	0.91284	0.0:1.0:0.0:0.0	.	399;399;257	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	H	399;399;257	ENSP00000216862:D399H;ENSP00000379285:D399H;ENSP00000379284:D257H	ENSP00000216862:D399H	D	-	1	0	CYP24A1	52208073	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.581000	0.60949	2.630000	0.89119	0.655000	0.94253	GAC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.378	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	C			52774666	-1	no_errors	ENST00000216862	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52774666	C	G	52774666	3	3	153	1	0	0	0	0	1	0	0	0	4159	826	29	1	361	1	CYP24A1	20	52774666	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3316328	52774666	10250854	1334	27308										
NPEPL1	79716	genome.wustl.edu	37	chr20	57268911	57268911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagccggcacaacagcccctCggccgcccacttcatcacgc	9	20	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:57268911C>T	ENST00000356091.6	+	2	557	c.269C>T	c.(268-270)tCg>tTg	p.S90L	NPEPL1_ENST00000525967.1_Missense_Mutation_p.S62L|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S42L	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	90						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AACAGCCCCTCGGCCGCCCAC	0.682																																																	0													22	28	26					20																	57268911		2099	4203	6302	SO:0001583	missense	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.269C>T	20.37:g.57268911C>T	ENSP00000348395:p.Ser90Leu		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Peptidase_M17	p.S90L	ENST00000356091.6	37	c.269	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479468	0.63849	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.31510	1.49;1.5;1.49	4.97	4.97	0.65823	.	0.055781	0.85682	D	0.000000	T	0.43567	0.1253	M	0.72894	2.215	0.80722	D	1	B;B;P	0.49783	0.392;0.28;0.928	B;B;P	0.48738	0.105;0.052;0.588	T	0.36696	-0.9737	10	0.34782	T	0.22	-17.0741	17.2194	0.86953	0.0:1.0:0.0:0.0	.	90;42;62	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	L	62;42;90	ENSP00000434810:S62L;ENSP00000437112:S42L;ENSP00000348395:S90L	ENSP00000348395:S90L	S	+	2	0	NPEPL1	56702318	1.000000	0.71417	0.972000	0.41901	0.537000	0.34900	5.712000	0.68407	2.304000	0.77564	0.505000	0.49811	TCG	NPEPL1	-	NULL		0.682	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	C	NM_024663		57268911	1	no_errors	ENST00000356091	ensembl	human	known	70_37	missense	SNP	0.994	T	T	57268911	C	T	57268911	3	4	153	1	0	0	0	0	1	0	0	0	10598	893	31	1	121	1	NPEPL1	20	57268911	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4494245	57268911	5756609	1335	27309										
SLC17A9	63910	genome.wustl.edu	37	chr20	61595652	61595652	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagcgggtttctctctgatCatctcatcaatcagggtgag	10	10	7	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:61595652C>G	ENST00000370351.4	+	8	1026	c.895C>G	c.(895-897)Cat>Gat	p.H299D	SLC17A9_ENST00000370349.3_Missense_Mutation_p.H293D|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	299					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTCTCTGATCATCTCATCAA	0.612																																																	0													171	184	180					20																	61595652		2014	4170	6184	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.895C>G	20.37:g.61595652C>G	ENSP00000359376:p.His299Asp		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H299D	ENST00000370351.4	37	c.895	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397658	0.25205	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.57752	0.38;0.38	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.203738	0.51477	D	0.000091	T	0.51805	0.1696	L	0.60455	1.87	0.41042	D	0.985239	B;B;B	0.31503	0.326;0.004;0.003	B;B;B	0.38156	0.266;0.027;0.016	T	0.52381	-0.8583	10	0.35671	T	0.21	.	11.4347	0.50062	0.0:0.9169:0.0:0.0831	.	319;299;293	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	D	299;293	ENSP00000359376:H299D;ENSP00000359374:H293D	ENSP00000359374:H293D	H	+	1	0	SLC17A9	61066097	0.998000	0.40836	0.190000	0.23270	0.162000	0.22319	3.434000	0.52841	2.228000	0.72767	0.555000	0.69702	CAT	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.612	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	C	NM_022082		61595652	1	no_errors	ENST00000370351	ensembl	human	known	70_37	missense	SNP	0.997	G	G	61595652	C	G	61595652	3	3	153	1	0	0	0	0	1	0	0	0	14454	826	29	1	925	1	SLC17A9	20	61595652	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4326741	61595652	1429868	1336	27310										
MYT1	4661	genome.wustl.edu	37	chr20	62854649	62854649	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctcttctctttcagcctctCtggttgccctcttgctgaca	6	15	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:62854649C>T	ENST00000328439.1	+	16	2829	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.S849F	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCAGCCTCTCTGGTTGCCCT	0.567																																					GBM(59;481 1041 20555 21139 33705)												0													282	296	292					20																	62854649		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2465C>T	20.37:g.62854649C>T	ENSP00000327465:p.Ser822Phe		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S849F	ENST00000328439.1	37	c.2546	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779852	0.49891	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.53857	0.62;0.6	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.72118	2.19	0.80722	D	1	B;B	0.29671	0.015;0.254	B;B	0.41202	0.014;0.35	T	0.66320	-0.5953	10	0.66056	D	0.02	-15.5639	18.9383	0.92595	0.0:1.0:0.0:0.0	.	849;822	F5H7M8;Q01538	.;MYT1_HUMAN	F	822;849	ENSP00000327465:S822F;ENSP00000442412:S849F	ENSP00000327465:S822F	S	+	2	0	MYT1	62325093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.673000	0.83973	2.463000	0.83235	0.655000	0.94253	TCT	MYT1	-	pfam_Znf_C2HC		0.567	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	C	NM_004535		62854649	1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62854649	C	T	62854649	3	4	153	1	0	0	0	0	1	0	0	0	10129	913	32	1	2519	1	MYT1	20	62854649	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1258997	62854649	170871	1337	27311										
BAGE2	85319	genome.wustl.edu	37	chr21	11058273	11058273	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgatacatctgggtacatttCtcttcacagcatttgatagt	7	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:11058273C>G	ENST00000470054.1	-	0	374							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGTACATTTCTCTTCACAGC	0.418																																																	0													109	85	92					21																	11058273		692	1591	2283			85319			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058273C>G			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-		0.418	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	C	NM_182482		11058273	-1	no_errors	ENST00000470054	ensembl	human	known	70_37	rna	SNP	1.000	G	G	11058273	C	G	11058273	1	3	153	0	1	0	0	0	0	0	0	0	1293	913	32	1		1	BAGE2	21	11058273	RNA	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		11058273	37071622	1338	27312										
ADAMTS5	11096	genome.wustl.edu	37	chr21	28304448	28304448	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agttttgactccttttgcatCagactgatagccatttttgg	8	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:28304448C>A	ENST00000284987.5	-	6	2045	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	642	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCTTTTGCATCAGACTGATAG	0.438																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													134	114	121					21																	28304448		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1924G>T	21.37:g.28304448C>A	ENSP00000284987:p.Asp642Tyr		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.D642Y	ENST00000284987.5	37	c.1924	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252066	0.80135	.	.	ENSG00000154736	ENST00000284987	T	0.03553	3.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	M	0.78049	2.395	0.58432	D	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.00054	-1.2184	10	0.66056	D	0.02	.	19.7635	0.96333	0.0:1.0:0.0:0.0	.	642	Q9UNA0	ATS5_HUMAN	Y	642	ENSP00000284987:D642Y	ENSP00000284987:D642Y	D	-	1	0	ADAMTS5	27226319	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.445000	0.80570	2.669000	0.90835	0.655000	0.94253	GAT	ADAMTS5	-	NULL		0.438	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	C			28304448	-1	no_errors	ENST00000284987	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28304448	C	A	28304448	3	1	153	1	0	0	0	0	1	0	0	0	269	826	29	3	880	3	ADAMTS5	21	28304448	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	17246175	28304448	19825447	1339	27313										
RNF160	26046	genome.wustl.edu	37	chr21	30316810	30316810	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagattgccaatggtatccaGagttgtggaatcaaagaaag	11	5	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:30316810G>C	ENST00000361371.5	-	22	3956	c.3877C>G	c.(3877-3879)Ctg>Gtg	p.L1293V	LTN1_ENST00000389194.2_Missense_Mutation_p.L1339V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1293					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATGGTATCCAGAGTTGTGGAA	0.408																																																	0													77	72	74					21																	30316810		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3877C>G	21.37:g.30316810G>C	ENSP00000354977:p.Leu1293Val		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.L1293V	ENST00000361371.5	37	c.3877		21	.	.	.	.	.	.	.	.	.	.	G	1.638	-0.517304	0.04171	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.17054	2.3;2.3	4.26	2.35	0.29111	.	0.851649	0.10257	N	0.696484	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.36601	-0.9741	10	0.26408	T	0.33	.	9.8861	0.41262	0.0:0.2848:0.5681:0.1471	.	1293	O94822	LTN1_HUMAN	V	1339;1293	ENSP00000373846:L1339V;ENSP00000354977:L1293V	ENSP00000354977:L1293V	L	-	1	2	LTN1	29238681	0.922000	0.31269	0.032000	0.17829	0.646000	0.38490	1.501000	0.35693	0.683000	0.31428	0.585000	0.79938	CTG	LTN1	-	NULL		0.408	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	G	NM_015565		30316810	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	0.067	C	C	30316810	G	C	30316810	3	2	153	1	0	0	0	0	1	0	0	0	13485	933	33	1	1459	1	RNF160	21	30316810	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2012362	30316810	17813085	1340	27314										
GRIK1	2897	genome.wustl.edu	37	chr21	30925920	30925920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttcgaatccctctctcctCtcgaattaatttaccacatt	2	13	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:30925920C>G	ENST00000399907.1	-	17	3124	c.2713G>C	c.(2713-2715)Gag>Cag	p.E905Q	GRIK1_ENST00000399909.1_Missense_Mutation_p.E890Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E907Q|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399913.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	905					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CCTCTCTCCTCTCGAATTAAT	0.353																																																	0													110	110	110					21																	30925920		1832	4087	5919	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2713G>C	21.37:g.30925920C>G	ENSP00000382791:p.Glu905Gln		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E907Q	ENST00000399907.1	37	c.2719	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020267	0.54576	.	.	ENSG00000171189	ENST00000399907;ENST00000399909;ENST00000309434	T;T;T	0.12147	2.73;2.71;2.73	5.4	5.4	0.78164	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.36320	D	0.858189	B	0.34214	0.442	B	0.27076	0.076	T	0.12293	-1.0553	9	0.02654	T	1	.	18.9642	0.92689	0.0:1.0:0.0:0.0	.	905	P39086	GRIK1_HUMAN	Q	905;890;907	ENSP00000382791:E905Q;ENSP00000382793:E890Q;ENSP00000311646:E907Q	ENSP00000311646:E907Q	E	-	1	0	GRIK1	29847791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.770000	0.74990	2.805000	0.96524	0.655000	0.94253	GAG	GRIK1	-	NULL		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	C			30925920	-1	no_errors	ENST00000309434	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30925920	C	G	30925920	3	3	153	1	0	0	0	0	1	0	0	0	6793	922	32	1	207	1	GRIK1	21	30925920	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	609110	30925920	17203975	1341	27315										
CLDN8	9073	genome.wustl.edu	37	chr21	31587732	31587732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	caacaatcagcaccagtgccGtggtccatcctaagtagaga	9	12	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:31587732G>C	ENST00000399899.1	-	1	659	c.512C>G	c.(511-513)aCg>aGg	p.T171R	CLDN8_ENST00000286809.1_Missense_Mutation_p.T171R	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	171					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CACCAGTGCCGTGGTCCATCC	0.468																																																	0													75	75	75					21																	31587732		2203	4300	6503	SO:0001583	missense	9073			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"Claudins"	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.512C>G	21.37:g.31587732G>C	ENSP00000382783:p.Thr171Arg		D3DSE3|Q53EX7	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.T171R	ENST00000399899.1	37	c.512	CCDS13587.1	21	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894296	0.52121	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.88896	-2.44;-2.44	5.01	5.01	0.66863	.	0.053458	0.64402	D	0.000001	D	0.94771	0.8312	M	0.84326	2.69	0.80722	D	1	P	0.52316	0.952	D	0.68483	0.958	D	0.95101	0.8230	10	0.87932	D	0	.	18.4775	0.90798	0.0:0.0:1.0:0.0	.	171	P56748	CLD8_HUMAN	R	171	ENSP00000382783:T171R;ENSP00000286809:T171R	ENSP00000286809:T171R	T	-	2	0	CLDN8	30509603	0.998000	0.40836	0.965000	0.40720	0.100000	0.18952	6.439000	0.73430	2.768000	0.95171	0.650000	0.86243	ACG	CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8		0.468	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	G	NM_199328		31587732	-1	no_errors	ENST00000286809	ensembl	human	known	70_37	missense	SNP	0.999	C	C	31587732	G	C	31587732	3	2	153	1	0	0	0	0	1	0	0	0	3496	1145	40	2	169	2	CLDN8	21	31587732	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	661812	31587732	16542163	1342	27316										
C21orf59	56683	genome.wustl.edu	37	chr21	33984523	33984523	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcagcaggaactggctctCgtcgccccgcttcacgtgca	11	16	2	0	rs201328420		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:33984523C>G	ENST00000290155.3	-	1	653	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	C21orf59_ENST00000540881.1_Missense_Mutation_p.E11Q|C21orf59_ENST00000382549.4_Missense_Mutation_p.E11Q|AP000275.65_ENST00000553001.1_Missense_Mutation_p.E11Q	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	11						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						AACTGGCTCTCGTCGCCCCGC	0.697																																																	0													18	18	18					21																	33984523		2202	4299	6501	SO:0001583	missense	56683			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"chromosome 21 open reading frame 48"	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.31G>C	21.37:g.33984523C>G	ENSP00000290155:p.Glu11Gln		Q53FH0	Missense_Mutation	SNP	pfam_DUF2870	p.E11Q	ENST00000290155.3	37	c.31	CCDS13617.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.262604	0.95399	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000540881;ENST00000458138	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.52011	1.625	0.80722	D	1	D;P;P;P;P	0.56968	0.978;0.714;0.799;0.668;0.668	P;B;B;B;B	0.53401	0.725;0.287;0.287;0.1;0.1	T	0.63620	-0.6596	8	.	.	.	.	17.9966	0.89185	0.0:1.0:0.0:0.0	.	11;11;11;11;11	F5GXV2;C9J818;P57076;D3DSE6;Q96NJ2	.;.;CU059_HUMAN;.;.	Q	11	.	.	E	-	1	0	C21orf59	32906394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.127000	0.77210	2.465000	0.83290	0.455000	0.32223	GAG	C21orf59	-	NULL		0.697	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf59	HGNC	protein_coding	OTTHUMT00000139431.1	C	NM_021254		33984523	-1	no_errors	ENST00000290155	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33984523	C	G	33984523	3	3	153	1	0	0	0	0	1	0	0	0	2135	893	31	1	869	1	C21orf59	21	33984523	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2396791	33984523	14145372	1343	27317										
SYNJ1	8867	genome.wustl.edu	37	chr21	34099122	34099122	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agactcgaacatgagacattCttccttatgcctagtttcca	6	11	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:34099122C>G	ENST00000322229.7	-	1	84	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	SYNJ1_ENST00000382499.2_Missense_Mutation_p.E68Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E68Q|PAXBP1-AS1_ENST00000458479.1_RNA|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E29Q|PAXBP1-AS1_ENST00000440052.1_RNA|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E29Q			O43426	SYNJ1_HUMAN	synaptojanin 1	29					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATGAGACATTCTTCCTTATGC	0.448																																																	0													157	135	143					21																	34099122		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.85G>C	21.37:g.34099122C>G	ENSP00000322234:p.Glu29Gln		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.E68Q	ENST00000322229.7	37	c.202	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423747	0.83667	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	D;D;D;D;D;D	0.94000	-2.45;-3.32;-3.33;-2.54;-2.52;-2.29	4.54	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.76002	2.32	0.54753	D	0.999986	P;P;P;P;P	0.52463	0.911;0.849;0.953;0.849;0.879	P;B;P;B;P	0.53401	0.467;0.365;0.725;0.365;0.55	D	0.95013	0.8153	10	0.62326	D	0.03	.	13.9721	0.64247	0.0:0.8474:0.1526:0.0	.	29;68;29;29;29	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	29;29;68;68;29;29;29	ENSP00000371931:E29Q;ENSP00000349903:E29Q;ENSP00000371939:E68Q;ENSP00000409667:E68Q;ENSP00000322234:E29Q;ENSP00000413649:E29Q	ENSP00000322234:E29Q	E	-	1	0	SYNJ1	33020993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.539000	0.67199	2.092000	0.63282	0.456000	0.33151	GAA	SYNJ1	-	NULL		0.448	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		C			34099122	-1	no_errors	ENST00000433931	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34099122	C	G	34099122	3	3	153	1	0	0	0	0	1	0	0	0	15482	922	32	1	4794	1	SYNJ1	21	34099122	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	114599	34099122	14030773	1344	27318										
OLIG2	10215	genome.wustl.edu	37	chr21	34399424	34399424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcgtccagcacctcgtcgtCtacgtcgtcggcggctgcgt	12	16	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:34399424C>G	ENST00000333337.3	+	1	1182	c.254C>G	c.(253-255)tCt>tGt	p.S85C	AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.S85C			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	85	Poly-Ser.				myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						ACCTCGTCGTCTACGTCGTCG	0.642			T	TRA@	T-ALL																																			Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	0													23	27	25					21																	34399424		2201	4299	6500	SO:0001583	missense	10215			U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"Basic helix-loop-helix proteins"	9398	protein-coding gene	gene with protein product	"oligodendrocyte-specific bHLH transcription factor 2", "protein kinase C binding protein 2", "human protein kinase C-binding protein RACK17", "basic domain, helix-loop-helix protein, class B, 1"	606386	"protein kinase C binding protein 2"	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.254C>G	21.37:g.34399424C>G	ENSP00000331040:p.Ser85Cys		B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S85C	ENST00000333337.3	37	c.254	CCDS13620.1	21	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284147	0.59867	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	T;T	0.81330	-1.48;-1.48	3.25	3.25	0.37280	.	.	.	.	.	T	0.74160	0.3680	N	0.19112	0.55	0.28872	N	0.894884	D	0.56521	0.976	P	0.49752	0.621	T	0.69060	-0.5245	9	0.59425	D	0.04	-6.1465	11.4781	0.50310	0.0:1.0:0.0:0.0	.	85	Q13516	OLIG2_HUMAN	C	85	ENSP00000371794:S85C;ENSP00000331040:S85C	ENSP00000331040:S85C	S	+	2	0	OLIG2	33321294	1.000000	0.71417	0.971000	0.41717	0.780000	0.44128	4.615000	0.61190	1.627000	0.50400	0.462000	0.41574	TCT	OLIG2	-	NULL		0.642	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG2	HGNC	protein_coding	OTTHUMT00000139663.1	C	NM_005806		34399424	1	no_errors	ENST00000333337	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34399424	C	G	34399424	3	3	153	1	0	0	0	0	1	0	0	0	10885	913	32	1	256	1	OLIG2	21	34399424	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	300302	34399424	13730471	1345	27319										
DOPEY2	9980	genome.wustl.edu	37	chr21	37665756	37665756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agacccagagacagctgcctGctgatagcccaggaactcca	10	14	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:37665756G>A	ENST00000399151.3	+	37	6869	c.6784G>A	c.(6784-6786)Gct>Act	p.A2262T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2262					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAGCTGCCTGCTGATAGCCC	0.453																																																	0													96	89	91					21																	37665756		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6784G>A	21.37:g.37665756G>A	ENSP00000382104:p.Ala2262Thr		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.A2262T	ENST00000399151.3	37	c.6784	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574630	0.28092	.	.	ENSG00000142197	ENST00000399151	T	0.46063	0.88	5.47	2.24	0.28232	.	0.593143	0.19205	N	0.120100	T	0.22627	0.0546	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09997	-1.0649	10	0.23302	T	0.38	.	2.4277	0.04463	0.1591:0.1511:0.4685:0.2213	.	2255;2262	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	2262	ENSP00000382104:A2262T	ENSP00000382104:A2262T	A	+	1	0	DOPEY2	36587626	0.000000	0.05858	0.022000	0.16811	0.092000	0.18411	-0.423000	0.07034	0.728000	0.32382	-0.127000	0.14921	GCT	DOPEY2	-	NULL		0.453	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37665756	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.000	A	A	37665756	G	A	37665756	3	1	153	1	0	0	0	0	1	0	0	0	4718	1319	46	4	6926	4	DOPEY2	21	37665756	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3266332	37665756	10464139	1346	27320										
MORC3	23515	genome.wustl.edu	37	chr21	37747582	37747582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttgaacaaatgagtgaaatCagtagtacttaaagtatatg	9	3	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:37747582C>T	ENST00000400485.1	+	17	2884	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	936					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TGAGTGAAATCAGTAGTACTT	0.289																																																	0													134	122	126					21																	37747582		1853	4092	5945	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2808C>T	21.37:g.37747582C>T			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.I936	ENST00000400485.1	37	c.2808	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.289	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37747582	1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37747582	C	T	37747582	2	4	153	1	0	0	0	0	0	0	0	1	9726	816	29	1		1	MORC3	21	37747582	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	81826	37747582	10382313	1347	27321										
HLCS	3141	genome.wustl.edu	37	chr21	38129019	38129019	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtgatgaggtcgttgatgcaGatggtagggttactgttagt	16	3	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:38129019G>C	ENST00000399120.1	-	11	3063	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	HLCS_ENST00000336648.4_Missense_Mutation_p.I611M	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	611	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGTTGATGCAGATGGTAGGGT	0.463																																																	0													262	228	239					21																	38129019		2203	4300	6503	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1833C>G	21.37:g.38129019G>C	ENSP00000382071:p.Ile611Met		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.I611M	ENST00000399120.1	37	c.1833	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804074	0.50315	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97016	-4.21;-4.21	4.74	-9.48	0.00591	.	0.073236	0.56097	D	0.000026	D	0.93331	0.7874	L	0.58428	1.81	0.29237	N	0.872887	P	0.44690	0.841	B	0.43701	0.428	D	0.88047	0.2785	10	0.35671	T	0.21	.	16.7555	0.85498	0.1504:0.0:0.7054:0.1442	.	611	P50747	BPL1_HUMAN	M	611	ENSP00000382071:I611M;ENSP00000338387:I611M	ENSP00000338387:I611M	I	-	3	3	HLCS	37050889	0.001000	0.12720	0.800000	0.32199	0.843000	0.47879	-2.490000	0.00975	-2.122000	0.00824	-0.397000	0.06425	ATC	HLCS	-	tigrfam_Biotin_CoA_COase_ligase		0.463	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	G			38129019	-1	no_errors	ENST00000336648	ensembl	human	known	70_37	missense	SNP	0.203	C	C	38129019	G	C	38129019	3	2	153	1	0	0	0	0	1	0	0	0	7233	932	33	1	355	1	HLCS	21	38129019	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	381437	38129019	10000876	1348	27322										
TTC3	7267	genome.wustl.edu	37	chr21	38569941	38569941	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactctcaggattgagtattGatgaaattgtccaaagagtg	10	6	1	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:38569941G>A	ENST00000399017.2	+	43	8397	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N	TTC3_ENST00000355666.1_Missense_Mutation_p.D1884N|TTC3_ENST00000354749.2_Missense_Mutation_p.D1884N|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1884					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATTGAGTATTGATGAAATTGT	0.333																																					Ovarian(38;194 1649 35661)												0													53	51	52					21																	38569941		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5650G>A	21.37:g.38569941G>A	ENSP00000381981:p.Asp1884Asn		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.D1884N	ENST00000399017.2	37	c.5650	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966263	0.74131	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.10099	2.91;2.91;2.91	5.17	5.17	0.71159	.	0.500574	0.20771	N	0.085997	T	0.22551	0.0544	M	0.74258	2.255	0.80722	D	1	P	0.52316	0.952	P	0.49477	0.612	T	0.00807	-1.1558	10	0.49607	T	0.09	-12.7218	14.1723	0.65517	0.0:0.0:1.0:0.0	.	1884	P53804	TTC3_HUMAN	N	1884	ENSP00000347889:D1884N;ENSP00000381981:D1884N;ENSP00000346791:D1884N	ENSP00000346791:D1884N	D	+	1	0	TTC3	37491811	0.983000	0.35010	0.973000	0.42090	0.999000	0.98932	1.973000	0.40550	2.409000	0.81822	0.650000	0.86243	GAT	TTC3	-	NULL		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38569941	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	0.917	A	A	38569941	G	A	38569941	3	1	153	1	0	0	0	0	1	0	0	0	16728	1290	45	1	5816	1	TTC3	21	38569941	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	440922	38569941	9559954	1349	27323										
B3GALT5	10317	genome.wustl.edu	37	chr21	41032838	41032838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggagagccagcgacacgggGacattatccagaaggatttc	13	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:41032838G>A	ENST00000380620.4	+	5	944	c.352G>A	c.(352-354)Gac>Aac	p.D118N	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.D118N|B3GALT5_ENST00000343118.4_Missense_Mutation_p.D118N|B3GALT5_ENST00000380618.1_Missense_Mutation_p.D118N			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	118					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GCGACACGGGGACATTATCCA	0.532																																																	0													88	90	89					21																	41032838		2203	4300	6503	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.352G>A	21.37:g.41032838G>A	ENSP00000369994:p.Asp118Asn		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.D118N	ENST00000380620.4	37	c.352	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025379	0.75390	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	D	0.93452	0.7911	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95496	0.8573	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	118	Q9Y2C3	B3GT5_HUMAN	N	118	ENSP00000369994:D118N;ENSP00000369992:D118N;ENSP00000343318:D118N;ENSP00000381699:D118N	ENSP00000343318:D118N	D	+	1	0	B3GALT5	39954708	1.000000	0.71417	0.086000	0.20670	0.004000	0.04260	9.661000	0.98601	2.711000	0.92665	0.655000	0.94253	GAC	B3GALT5	-	pfam_Glyco_trans_31		0.532	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT5	HGNC	protein_coding	OTTHUMT00000195008.2	G	NM_033170		41032838	1	no_errors	ENST00000343118	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41032838	G	A	41032838	3	1	153	1	0	0	0	0	1	0	0	0	1251	1174	41	1	354	1	B3GALT5	21	41032838	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2462897	41032838	7097057	1350	27324										
ABCG1	9619	genome.wustl.edu	37	chr21	43702483	43702483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcgcctggccatcgcgctgGagctggtgaacaaccctcca	12	15	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:43702483G>C	ENST00000361802.2	+	6	833	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	ABCG1_ENST00000340588.4_Missense_Mutation_p.E338Q|ABCG1_ENST00000347800.2_Missense_Mutation_p.E227Q|ABCG1_ENST00000398437.1_Missense_Mutation_p.E376Q|ABCG1_ENST00000398449.3_Missense_Mutation_p.E230Q|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.E241Q|ABCG1_ENST00000398457.2_Missense_Mutation_p.E232Q	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	230	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CATCGCGCTGGAGCTGGTGAA	0.607																																																	0													65	60	62					21																	43702483		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.688G>C	21.37:g.43702483G>C	ENSP00000354995:p.Glu230Gln		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.E376Q	ENST00000361802.2	37	c.1126	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715425	0.89112	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;D;T;T;T;T;T	0.93426	1.73;1.73;-3.22;1.73;1.73;1.73;1.73;1.73	4.44	4.44	0.53790	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.064057	0.64402	D	0.000012	D	0.93805	0.8019	N	0.25426	0.745	0.80722	D	1	D;P;D;D;P;D	0.89917	1.0;0.929;0.989;0.985;0.929;0.996	D;P;D;P;P;D	0.81914	0.995;0.839;0.962;0.854;0.773;0.991	D	0.93181	0.6574	9	.	.	.	-32.1635	17.4322	0.87542	0.0:0.0:1.0:0.0	.	241;241;230;230;227;232	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	Q	232;227;213;230;230;241;376;338	ENSP00000381475:E232Q;ENSP00000291524:E227Q;ENSP00000414541:E213Q;ENSP00000381467:E230Q;ENSP00000354995:E230Q;ENSP00000339744:E241Q;ENSP00000381464:E376Q;ENSP00000343820:E338Q	.	E	+	1	0	ABCG1	42575552	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	9.451000	0.97610	2.177000	0.69029	0.591000	0.81541	GAG	ABCG1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.607	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	G	NM_207174		43702483	1	no_errors	ENST00000398437	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43702483	G	C	43702483	3	2	153	1	0	0	0	0	1	0	0	0	68	1175	41	1	878	1	ABCG1	21	43702483	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	2669645	43702483	4427412	1351	27325										
WDR4	10785	genome.wustl.edu	37	chr21	44274710	44274710	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acgcagttctcctggcaccaGaatgcaatcctggacgcggc	11	14	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:44274710G>A	ENST00000398208.2	-	8	812	c.753C>T	c.(751-753)ttC>ttT	p.F251F	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.F251F	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCTGGCACCAGAATGCAATCC	0.607																																																	0													36	36	36					21																	44274710		2203	4300	6503	SO:0001819	synonymous_variant	10785			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.753C>T	21.37:g.44274710G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F251	ENST00000398208.2	37	c.753	CCDS13691.1	21																																																																																			WDR4	-	superfamily_WD40_repeat_dom		0.607	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	G			44274710	-1	no_errors	ENST00000330317	ensembl	human	known	70_37	silent	SNP	0.723	A	A	44274710	G	A	44274710	2	1	153	1	0	0	0	0	0	0	0	1	17324	933	33	1		1	WDR4	21	44274710	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	572227	44274710	3855185	1352	27326										
RRP1B	23076	genome.wustl.edu	37	chr21	45103223	45103223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aagaggaagagatgactgtgGaacctttgaggacacagggc	15	6	0	4	rs140107577		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:45103223G>T	ENST00000340648.4	+	9	977	c.860G>T	c.(859-861)gGa>gTa	p.G287V		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	287					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GATGACTGTGGAACCTTTGAG	0.428																																																	0													95	88	91					21																	45103223		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.860G>T	21.37:g.45103223G>T	ENSP00000339145:p.Gly287Val		Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.G287V	ENST00000340648.4	37	c.860	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797990	0.31777	.	.	ENSG00000160208	ENST00000340648	T	0.35048	1.33	5.02	1.72	0.24424	.	1.880440	0.02257	N	0.067234	T	0.32645	0.0836	L	0.48642	1.525	0.09310	N	1	P	0.46706	0.883	B	0.37650	0.255	T	0.32693	-0.9897	10	0.87932	D	0	-1.9988	6.4771	0.22043	0.0:0.257:0.4167:0.3264	.	287	Q14684	RRP1B_HUMAN	V	287	ENSP00000339145:G287V	ENSP00000339145:G287V	G	+	2	0	RRP1B	43927651	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.862000	0.27899	0.384000	0.24942	0.644000	0.83932	GGA	RRP1B	-	NULL		0.428	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45103223	1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	0.001	T	T	45103223	G	T	45103223	3	4	153	1	0	0	0	0	1	0	0	0	13718	1174	41	3	894	3	RRP1B	21	45103223	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	828513	45103223	3026672	1353	27327										
KRTAP10-4	386672	genome.wustl.edu	37	chr21	45994702	45994702	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcaccacctcctgctgcaGaccctcctcctccgtgtccc	6	22	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:45994702G>A	ENST00000400374.3	+	1	1097	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	356	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCTGCAGACCCTCCTCC	0.657																																																	0													88	100	96					21																	45994702		2203	4300	6503	SO:0001583	missense	386672			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1067G>A	21.37:g.45994702G>A	ENSP00000383225:p.Arg356Lys		Q08AS0	Missense_Mutation	SNP	NULL	p.R356K	ENST00000400374.3	37	c.1067	CCDS42957.1	21	.	.	.	.	.	.	.	.	.	.	g	10.82	1.459632	0.26248	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01455	4.87	4.06	-0.00796	0.14007	.	.	.	.	.	T	0.01661	0.0053	L	0.43701	1.375	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.47761	-0.9092	9	0.24483	T	0.36	.	3.3708	0.07220	0.4475:0.0:0.3674:0.1851	.	356	P60372	KR104_HUMAN	K	356;152	ENSP00000383225:R356K	ENSP00000333987:R152K	R	+	2	0	KRTAP10-4	44819130	0.000000	0.05858	0.987000	0.45799	0.994000	0.84299	-0.443000	0.06862	0.005000	0.14708	0.552000	0.68991	AGA	KRTAP10-4	-	NULL		0.657	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	G	NM_198687		45994702	1	no_errors	ENST00000400374	ensembl	human	known	70_37	missense	SNP	0.294	A	A	45994702	G	A	45994702	3	1	153	1	0	0	0	0	1	0	0	0	8531	942	33	1	1069	1	KRTAP10-4	21	45994702	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	891479	45994702	2135193	1354	27328										
COL6A2	1292	genome.wustl.edu	37	chr21	47552126	47552126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	catccacgaggcgctggagaCcacacaatacctgaactcct	8	15	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:47552126C>T	ENST00000300527.4	+	28	2824	c.2720C>T	c.(2719-2721)aCc>aTc	p.T907I		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	907	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCGCTGGAGACCACACAATAC	0.687																																																	0													18	18	18					21																	47552126		2188	4293	6481	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2720C>T	21.37:g.47552126C>T	ENSP00000300527:p.Thr907Ile		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.T907I	ENST00000300527.4	37	c.2720	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801021	0.02841	.	.	ENSG00000142173	ENST00000300527	T	0.78364	-1.17	4.18	0.35	0.16037	von Willebrand factor, type A (3);	1.174230	0.06360	U	0.711421	T	0.59569	0.2203	N	0.14661	0.345	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.43925	-0.9361	10	0.39692	T	0.17	-0.4065	4.6174	0.12433	0.6223:0.2056:0.172:0.0	.	907	P12110	CO6A2_HUMAN	I	907	ENSP00000300527:T907I	ENSP00000300527:T907I	T	+	2	0	COL6A2	46376554	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.169000	0.09911	-0.057000	0.13199	0.313000	0.20887	ACC	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	C			47552126	1	no_errors	ENST00000300527	ensembl	human	known	70_37	missense	SNP	0.000	T	T	47552126	C	T	47552126	3	4	153	1	0	0	0	0	1	0	0	0	3705	507	18	4	3156	4	COL6A2	21	47552126	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1557424	47552126	577769	1355	27329										
MICAL3	57553	genome.wustl.edu	37	chr22	18273683	18273683	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcctcagtcttaaggtgatCttgaaggagaagaaggcatg	12	7	3	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:18273683C>G	ENST00000441493.2	-	32	6177		c.e32-1		MICAL3_ENST00000580469.1_Splice_Site|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTAAGGTGATCTTGAAGGAGA	0.577																																																	0													48	49	49					22																	18273683		2038	4187	6225	SO:0001630	splice_region_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5825-1G>C	22.37:g.18273683C>G			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Splice_Site	SNP	-	e31-1	ENST00000441493.2	37	c.5825-1	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620637	0.28889	.	.	ENSG00000093100	ENST00000252134;ENST00000441493	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4478	0.90691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-B461K10.4	16653683	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	7.776000	0.85560	2.440000	0.82611	0.491000	0.48974	.	MICAL3	-	-		0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	C		Intron	18273683	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	18273683	C	G	18273683	5	3	153	1	0	0	0	0	0	0	1	0	9594	927	32	1	188	1	MICAL3	22	18273683	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09		18273683	33030883	1356	27330										
UFD1L	7353	genome.wustl.edu	37	chr22	19459236	19459236	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggaggtagcagatgccctCatcagccacaaactccagca	10	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:19459236C>T	ENST00000263202.10	-	4	394	c.265G>A	c.(265-267)Gag>Aag	p.E89K	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.E89K|UFD1L_ENST00000360834.4_Missense_Mutation_p.E78K	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	89					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CAGATGCCCTCATCAGCCACA	0.547																																																	0													83	67	73					22																	19459236		2203	4300	6503	SO:0001583	missense	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.265G>A	22.37:g.19459236C>T	ENSP00000263202:p.Glu89Lys		A8MW31|Q9Y5N0	Missense_Mutation	SNP	pfam_UFD1	p.E89K	ENST00000263202.10	37	c.265	CCDS13761.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.865121	0.97043	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77267	0.4105	M	0.84433	2.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.81914	0.995;0.99;0.99	T	0.79978	-0.1575	10	0.87932	D	0	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	89;89;89	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	K	89;78;89;89;78;84;25	ENSP00000263202:E89K;ENSP00000354079:E78K;ENSP00000382439:E89K;ENSP00000406680:E78K;ENSP00000418390:E84K;ENSP00000418295:E25K	ENSP00000263202:E89K	E	-	1	0	UFD1L	17839236	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	GAG	UFD1L	-	pfam_UFD1		0.547	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	C			19459236	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19459236	C	T	19459236	3	4	153	1	0	0	0	0	1	0	0	0	16966	835	29	1	694	1	UFD1L	22	19459236	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1185553	19459236	31845330	1357	27331										
DGCR8	54487	genome.wustl.edu	37	chr22	20079118	20079118	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgccagccaatcagaagctCattactttatcagtgcaaga	7	10	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:20079118C>G	ENST00000351989.3	+	6	1896	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	DGCR8_ENST00000383024.2_Silent_p.L489L|DGCR8_ENST00000407755.1_Silent_p.L489L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	489	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.L489L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ATCAGAAGCTCATTACTTTAT	0.463																																																	1	Substitution - coding silent(1)	endometrium(1)											140	151	147					22																	20079118		2203	4300	6503	SO:0001819	synonymous_variant	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1467C>G	22.37:g.20079118C>G			B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.L489	ENST00000351989.3	37	c.1467	CCDS13773.1	22																																																																																			DGCR8	-	NULL		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	C			20079118	1	no_errors	ENST00000351989	ensembl	human	known	70_37	silent	SNP	1.000	G	G	20079118	C	G	20079118	2	3	153	1	0	0	0	0	0	0	0	1	4474	813	29	1		1	DGCR8	22	20079118	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	619882	20079118	31225448	1358	27332										
ZDHHC8	29801	genome.wustl.edu	37	chr22	20128963	20128963	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagagtgccctgtcggtgcaGaggaccagccccccgacacc	13	16	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:20128963G>C	ENST00000334554.7	+	9	1176	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.Q345H|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.Q253H	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	345					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGTCGGTGCAGAGGACCAGCC	0.627																																																	0													65	65	65					22																	20128963		2203	4299	6502	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1035G>C	22.37:g.20128963G>C	ENSP00000334490:p.Gln345His		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.Q345H	ENST00000334554.7	37	c.1035	CCDS13776.1	22	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332332	0.41297	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72615	1.33;-0.67;1.31	5.25	5.25	0.73442	.	0.869497	0.09816	N	0.752093	T	0.75975	0.3923	L	0.36672	1.1	0.26798	N	0.969263	D;D;P	0.60575	0.987;0.988;0.947	D;P;B	0.72982	0.979;0.796;0.254	T	0.63739	-0.6569	10	0.44086	T	0.13	.	8.0913	0.30803	0.1374:0.0:0.8626:0.0	.	253;345;345	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	H	345;253;345	ENSP00000334490:Q345H;ENSP00000317804:Q253H;ENSP00000384716:Q345H	ENSP00000317804:Q253H	Q	+	3	2	ZDHHC8	18508963	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.541000	0.45735	2.462000	0.83206	0.645000	0.84053	CAG	ZDHHC8	-	NULL		0.627	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1	G	NM_013373		20128963	1	no_errors	ENST00000405930	ensembl	human	known	70_37	missense	SNP	0.998	C	C	20128963	G	C	20128963	3	2	153	1	0	0	0	0	1	0	0	0	17651	933	33	1	1069	1	ZDHHC8	22	20128963	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	49845	20128963	31175603	1359	27333										
SCARF2	91179	genome.wustl.edu	37	chr22	20781775	20781775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ccaggatggtgagggctgctCcagccctgagggtggctcca	16	12	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:20781775C>G	ENST00000266214.5	-	10	1722	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	SCARF2_ENST00000405555.3_Missense_Mutation_p.E535Q	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	540					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGGCTGCTCCAGCCCTGAG	0.602																																																	0													116	104	108					22																	20781775		2203	4300	6503	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1618G>C	22.37:g.20781775C>G	ENSP00000266214:p.Glu540Gln		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.E535Q	ENST00000266214.5	37	c.1603	CCDS13779.1	22	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706035	0.68615	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.26518	1.85;1.73	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	T	0.36580	0.0972	L	0.57536	1.79	0.39887	D	0.97371	P;D	0.56746	0.747;0.977	B;P	0.50352	0.399;0.638	T	0.35599	-0.9782	10	0.66056	D	0.02	-15.5231	15.335	0.74244	0.0:1.0:0.0:0.0	.	535;535	E5RFB8;Q96GP6	.;SREC2_HUMAN	Q	535;535;540	ENSP00000385589:E535Q;ENSP00000266214:E540Q	ENSP00000266214:E540Q	E	-	1	0	SCARF2	19111775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.439000	0.80444	2.307000	0.77673	0.462000	0.41574	GAG	SCARF2	-	NULL		0.602	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	C			20781775	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20781775	C	G	20781775	3	3	153	1	0	0	0	0	1	0	0	0	13914	864	30	1	1002	1	SCARF2	22	20781775	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	652812	20781775	30522791	1360	27334										
CABIN1	23523	genome.wustl.edu	37	chr22	24468334	24468334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcagcatggctgtgcaggagGaggccaaggagccccacgtc	16	12	0	0	rs62231973		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:24468334G>C	ENST00000398319.2	+	18	2891	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E786Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E836Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	836					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGCAGGAGGAGGCCAAGGA	0.577																																																	0													116	82	94					22																	24468334		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2506G>C	22.37:g.24468334G>C	ENSP00000381364:p.Glu836Gln		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E836Q	ENST00000398319.2	37	c.2506	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539908	0.85917	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34859	1.34;1.34;1.34	4.57	4.57	0.56435	.	0.054168	0.64402	D	0.000001	T	0.55353	0.1915	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	T	0.55885	-0.8070	10	0.48119	T	0.1	.	16.8003	0.85612	0.0:0.0:1.0:0.0	.	786;836	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Q	836;786;836	ENSP00000263119:E836Q;ENSP00000384694:E786Q;ENSP00000381364:E836Q	ENSP00000263119:E836Q	E	+	1	0	CABIN1	22798334	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.219000	0.95173	2.300000	0.77407	0.650000	0.86243	GAG	CABIN1	-	NULL		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	G	NM_012295		24468334	1	no_errors	ENST00000263119	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24468334	G	C	24468334	3	2	153	1	0	0	0	0	1	0	0	0	2533	1175	41	1	2572	1	CABIN1	22	24468334	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3686559	24468334	26836232	1361	27335										
CABIN1	23523	genome.wustl.edu	37	chr22	24509660	24509660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagaagaggctgcccattctCagttcccaagcaggagcgac	12	12	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:24509660C>T	ENST00000398319.2	+	27	4630	c.4245C>T	c.(4243-4245)ctC>ctT	p.L1415L	CABIN1_ENST00000405822.2_Silent_p.L1336L|CABIN1_ENST00000263119.5_Silent_p.L1415L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1415					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCCATTCTCAGTTCCCAAG	0.507																																																	0													90	91	91					22																	24509660		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4245C>T	22.37:g.24509660C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1415	ENST00000398319.2	37	c.4245	CCDS13823.1	22																																																																																			CABIN1	-	NULL		0.507	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	C	NM_012295		24509660	1	no_errors	ENST00000263119	ensembl	human	known	70_37	silent	SNP	0.740	T	T	24509660	C	T	24509660	2	4	153	1	0	0	0	0	0	0	0	1	2533	813	29	1		1	CABIN1	22	24509660	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	41326	24509660	26794906	1362	27336										
CYTSA	23384	genome.wustl.edu	37	chr22	24765209	24765209	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaaaggaaagaccctctctCagcattggccagagaatatg	10	9	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:24765209C>G	ENST00000314328.9	+	14	3293	c.3008C>G	c.(3007-3009)tCa>tGa	p.S1003*	SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S1003*|SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S1003*|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1003					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S1003L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GACCCTCTCTCAGCATTGGCC	0.378																																																	1	Substitution - Missense(1)	lung(1)											110	102	105					22																	24765209		2203	4300	6503	SO:0001587	stop_gained	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3008C>G	22.37:g.24765209C>G	ENSP00000325785:p.Ser1003*		B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_dom,smart_CH-domain,pfscan_CH-domain	p.S1003*	ENST00000314328.9	37	c.3008	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	C	43	9.923947	0.99297	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	.	.	.	5.56	5.56	0.83823	.	0.073744	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3951	18.5081	0.90905	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000325785:S1003X	S	+	2	0	SPECC1L	23095209	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.177000	0.77650	2.607000	0.88179	0.563000	0.77884	TCA	SPECC1L	-	NULL		0.378	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	C	NM_015330		24765209	1	no_errors	ENST00000314328	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	24765209	C	G	24765209	4	3	153	1	0	0	0	0	0	1	0	0	4214	838	29	1	3054	1	CYTSA	22	24765209	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	255549	24765209	26539357	1363	27337										
PITPNB	23760	genome.wustl.edu	37	chr22	28307052	28307052	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccttctccaccaccagtctCattcttactagcttctgcaa	3	16	4	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:28307052C>G	ENST00000335272.5	-	3	173	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PITPNB_ENST00000455418.3_Missense_Mutation_p.E35Q|PITPNB_ENST00000320996.10_Missense_Mutation_p.E33Q	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	33					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						CCACCAGTCTCATTCTTACTA	0.378																																																	0													171	145	154					22																	28307052		2203	4300	6503	SO:0001583	missense	23760			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.97G>C	22.37:g.28307052C>G	ENSP00000334738:p.Glu33Gln		B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.E35Q	ENST00000335272.5	37	c.103	CCDS13842.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.418005	0.96092	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000436663	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.04	6.04	0.98038	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	L	0.58428	1.81	0.80722	D	1	D;P;D	0.76494	0.999;0.941;0.991	D;P;P	0.73708	0.981;0.731;0.837	T	0.71080	-0.4696	10	0.87932	D	0	-44.0594	19.583	0.95478	0.0:1.0:0.0:0.0	.	35;33;33	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	Q	33;33;35;35	ENSP00000334738:E33Q;ENSP00000321266:E33Q;ENSP00000405179:E35Q;ENSP00000403675:E35Q	ENSP00000321266:E33Q	E	-	1	0	PITPNB	26637052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.041000	0.70988	2.873000	0.98535	0.563000	0.77884	GAG	PITPNB	-	pfam_PI_transfer,prints_PI_transfer		0.378	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	C			28307052	-1	no_errors	ENST00000455418	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28307052	C	G	28307052	3	3	153	1	0	0	0	0	1	0	0	0	11972	835	29	1	754	1	PITPNB	22	28307052	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3541843	28307052	22997514	1364	27338										
BPIL2	254240	genome.wustl.edu	37	chr22	32828450	32828450	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgtccagggtgaaattgccTggttgtagattgattatggg	14	4	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:32828450T>A	ENST00000397452.1	-	11	1169	c.1059A>T	c.(1057-1059)ccA>ccT	p.P353P	BPIFC_ENST00000300399.3_Silent_p.P353P|BPIFC_ENST00000534972.1_Silent_p.P77P|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	353						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGAAATTGCCTGGTTGTAGAT	0.502																																																	0													296	270	279					22																	32828450		2203	4300	6503	SO:0001819	synonymous_variant	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1059A>T	22.37:g.32828450T>A			A2RRF1	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P353	ENST00000397452.1	37	c.1059	CCDS13906.1	22																																																																																			BPIFC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.502	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	T	NM_174932		32828450	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	silent	SNP	0.000	A	A	32828450	T	A	32828450	2	1	153	1	0	0	0	0	0	0	0	1	1495	1567	55	5		5	BPIL2	22	32828450	Silent	SNP	T	TCGA-IR-A3LK-01A-12D-A20U-09	4521398	32828450	18476116	1365	27339										
SYN3	8224	genome.wustl.edu	37	chr22	32909744	32909744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggtttcagccttggcctcgtCttcacttggggtcccacgct	11	14	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:32909744C>G	ENST00000358763.2	-	14	1920	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.D560H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	560	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCTCGTCTTCACTTGGG	0.562																																																	0													162	120	134					22																	32909744		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1678G>C	22.37:g.32909744C>G	ENSP00000351614:p.Asp560His		B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.D560H	ENST00000358763.2	37	c.1678	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502941	0.85176	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70876	-0.4753	10	0.72032	D	0.01	-5.6822	19.5608	0.95371	0.0:1.0:0.0:0.0	.	559;560	Q17R54;O14994	.;SYN3_HUMAN	H	560;560;166	ENSP00000351614:D560H;ENSP00000330219:D560H	ENSP00000330219:D560H	D	-	1	0	SYN3	31239744	1.000000	0.71417	0.887000	0.34795	0.673000	0.39480	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	GAC	SYN3	-	NULL		0.562	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	C			32909744	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32909744	C	G	32909744	3	3	153	1	0	0	0	0	1	0	0	0	15472	913	32	1	68	1	SYN3	22	32909744	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	81294	32909744	18394822	1366	27340										
APOL3	80833	genome.wustl.edu	37	chr22	36537912	36537912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cattggagatggtgcagcctCtgtggacctcttcaatacca	10	11	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:36537912C>A	ENST00000349314.2	-	3	582	c.545G>T	c.(544-546)aGa>aTa	p.R182I	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397293.2_Missense_Mutation_p.R111I|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	182					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GGTGCAGCCTCTGTGGACCTC	0.512																																																	0													118	111	113					22																	36537912		2203	4300	6503	SO:0001583	missense	80833			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.545G>T	22.37:g.36537912C>A	ENSP00000344577:p.Arg182Ile		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.R182I	ENST00000349314.2	37	c.545	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117007	0.37339	.	.	ENSG00000128284	ENST00000397293;ENST00000349314	T;T	0.04603	3.59;3.59	4.3	-1.35	0.09114	.	0.656804	0.15740	N	0.247000	T	0.16938	0.0407	M	0.82517	2.595	0.58432	D	0.999997	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.931	T	0.04885	-1.0920	10	0.87932	D	0	.	7.8557	0.29480	0.0:0.4068:0.0:0.5932	.	182;111	O95236;O95236-2	APOL3_HUMAN;.	I	111;182	ENSP00000380461:R111I;ENSP00000344577:R182I	ENSP00000344577:R182I	R	-	2	0	APOL3	34867858	0.003000	0.15002	0.005000	0.12908	0.007000	0.05969	-0.104000	0.10923	-0.014000	0.14175	-0.373000	0.07131	AGA	APOL3	-	pfam_ApoL		0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	C	NM_145641		36537912	-1	no_errors	ENST00000349314	ensembl	human	known	70_37	missense	SNP	0.768	A	A	36537912	C	A	36537912	3	1	153	1	0	0	0	0	1	0	0	0	807	913	32	3	667	3	APOL3	22	36537912	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3628168	36537912	14766654	1367	27341										
MYH9	4627	genome.wustl.edu	37	chr22	36705359	36705359	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctccgagacaaacttgtcaGaggactggtggagcagtgtg	15	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:36705359G>A	ENST00000216181.5	-	15	2041	c.1811C>T	c.(1810-1812)tCt>tTt	p.S604F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	604	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AAACTTGTCAGAGGACTGGTG	0.577			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													208	156	174					22																	36705359		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1811C>T	22.37:g.36705359G>A	ENSP00000216181:p.Ser604Phe		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S604F	ENST00000216181.5	37	c.1811	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.071419	0.93950	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72942	-0.7	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.062797	0.64402	D	0.000004	D	0.82829	0.5122	H	0.97291	3.975	0.80722	D	1	P	0.45396	0.857	B	0.41894	0.369	D	0.89880	0.4029	10	0.87932	D	0	.	17.6762	0.88232	0.0:0.0:1.0:0.0	.	604	P35579	MYH9_HUMAN	F	468;604	ENSP00000216181:S604F	ENSP00000216181:S604F	S	-	2	0	MYH9	35035305	1.000000	0.71417	0.947000	0.38551	0.985000	0.73830	8.016000	0.88706	2.350000	0.79820	0.563000	0.77884	TCT	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36705359	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36705359	G	A	36705359	3	1	153	1	0	0	0	0	1	0	0	0	10065	942	33	1	4179	1	MYH9	22	36705359	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	167447	36705359	14599207	1368	27342										
EIF3D	8664	genome.wustl.edu	37	chr22	36913354	36913354	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actcgtttcctcaccattctCaagcactgctgggagaaatt	7	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:36913354C>G	ENST00000216190.8	-	10	1354	c.984G>C	c.(982-984)ttG>ttC	p.L328F	EIF3D_ENST00000405442.1_Missense_Mutation_p.L328F|EIF3D_ENST00000541106.1_Missense_Mutation_p.L279F	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCACCATTCTCAAGCACTGCT	0.483																																																	0													140	119	126					22																	36913354		2203	4300	6503	SO:0001583	missense	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.984G>C	22.37:g.36913354C>G	ENSP00000216190:p.Leu328Phe			Missense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.L328F	ENST00000216190.8	37	c.984	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534145	0.64972	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000458572	.	.	.	5.95	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.85462	2.755	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81885	-0.0727	9	0.87932	D	0	-7.933	10.1387	0.42723	0.1357:0.7959:0.0:0.0684	.	279;328	B4DVY1;O15371	.;EIF3D_HUMAN	F	328;313;279;328;15	.	ENSP00000216190:L328F	L	-	3	2	EIF3D	35243300	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.121000	0.31283	1.525000	0.49052	-0.157000	0.13467	TTG	EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta		0.483	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	C			36913354	-1	no_errors	ENST00000216190	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36913354	C	G	36913354	3	3	153	1	0	0	0	0	1	0	0	0	5026	825	29	1	686	1	EIF3D	22	36913354	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	207995	36913354	14391212	1369	27343										
NCF4	4689	genome.wustl.edu	37	chr22	37273686	37273686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcaggcgggagttccagagaGaggacatagctctgaattac	14	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:37273686G>C	ENST00000248899.6	+	10	1025	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	281	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GTTCCAGAGAGAGGACATAGC	0.577																																																	0													58	59	59					22																	37273686		2203	4300	6503	SO:0001583	missense	4689			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.841G>C	22.37:g.37273686G>C	ENSP00000248899:p.Glu281Gln		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.E281Q	ENST00000248899.6	37	c.841	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059146	0.19987	.	.	ENSG00000100365	ENST00000248899	T	0.44482	0.92	5.44	4.36	0.52297	Phox/Bem1p (2);	.	.	.	.	T	0.35248	0.0925	L	0.52364	1.645	0.23598	N	0.997328	P	0.34934	0.476	B	0.38194	0.267	T	0.17167	-1.0378	9	0.20519	T	0.43	.	5.6968	0.17861	0.1607:0.1976:0.6417:0.0	.	281	Q15080	NCF4_HUMAN	Q	281	ENSP00000248899:E281Q	ENSP00000248899:E281Q	E	+	1	0	NCF4	35603632	0.995000	0.38212	0.999000	0.59377	0.499000	0.33736	2.030000	0.41108	2.556000	0.86216	0.650000	0.86243	GAG	NCF4	-	pfam_OPR_PB1,smart_OPR_PB1		0.577	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	G	NM_000631		37273686	1	no_errors	ENST00000248899	ensembl	human	known	70_37	missense	SNP	0.361	C	C	37273686	G	C	37273686	3	2	153	1	0	0	0	0	1	0	0	0	10242	943	33	1	1120	1	NCF4	22	37273686	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	360332	37273686	14030880	1370	27344										
MFNG	4242	genome.wustl.edu	37	chr22	37870703	37870703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atgagagcagatgtgtccatGaaacgggagccactgaggga	15	7	0	4			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:37870703G>C	ENST00000356998.3	-	6	883	c.660C>G	c.(658-660)ttC>ttG	p.F220L	MFNG_ENST00000416983.3_Missense_Mutation_p.F206L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	220					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ATGTGTCCATGAAACGGGAGC	0.642																																																	0													49	49	49					22																	37870703		2203	4300	6503	SO:0001583	missense	4242			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.660C>G	22.37:g.37870703G>C	ENSP00000349490:p.Phe220Leu		B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.F220L	ENST00000356998.3	37	c.660	CCDS13947.1	22	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531159	0.64972	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000436341	T;T;T	0.64803	-0.12;-0.12;-0.12	5.43	-2.15	0.07102	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	L	0.58354	1.805	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.64803	-0.6321	10	0.39692	T	0.17	-28.8847	10.1549	0.42816	0.4581:0.0:0.5419:0.0	.	206;220	B4DLT6;O00587	.;MFNG_HUMAN	L	206;220;98	ENSP00000413855:F206L;ENSP00000349490:F220L;ENSP00000394081:F98L	ENSP00000349490:F220L	F	-	3	2	MFNG	36200649	0.974000	0.33945	0.498000	0.27564	0.936000	0.57629	1.442000	0.35046	-0.583000	0.05921	-0.469000	0.05056	TTC	MFNG	-	pfam_Fringe-like,pirsf_Fringe		0.642	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFNG	HGNC	protein_coding	OTTHUMT00000318902.1	G	NM_002405		37870703	-1	no_errors	ENST00000356998	ensembl	human	known	70_37	missense	SNP	0.993	C	C	37870703	G	C	37870703	3	2	153	1	0	0	0	0	1	0	0	0	9548	1281	45	1	317	1	MFNG	22	37870703	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	597017	37870703	13433863	1371	27345										
TRIOBP	11078	genome.wustl.edu	37	chr22	38130433	38130433	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgctccctgccaaacaggcaGaactgacccggcggagccaa	11	15	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:38130433G>A	ENST00000406386.3	+	9	4345	c.4090G>A	c.(4090-4092)Gaa>Aaa	p.E1364K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1364					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAAACAGGCAGAACTGACCCG	0.647																																																	0													30	35	33					22																	38130433		1967	4149	6116	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4090G>A	22.37:g.38130433G>A	ENSP00000384312:p.Glu1364Lys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1364K	ENST00000406386.3	37	c.4090	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714454	0.68730	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.38077	1.16	5.62	5.62	0.85841	.	.	.	.	.	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.10200	-1.0640	9	0.66056	D	0.02	.	16.5714	0.84613	0.0:0.0:1.0:0.0	.	1364	Q9H2D6	TARA_HUMAN	K	1364;1325	ENSP00000384312:E1364K	ENSP00000384312:E1364K	E	+	1	0	TRIOBP	36460379	0.980000	0.34600	0.986000	0.45419	0.613000	0.37349	5.515000	0.67049	2.644000	0.89710	0.563000	0.77884	GAA	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130433	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.934	A	A	38130433	G	A	38130433	3	1	153	1	0	0	0	0	1	0	0	0	16584	943	33	1	4116	1	TRIOBP	22	38130433	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	259730	38130433	13174133	1372	27346										
GTPBP1	9567	genome.wustl.edu	37	chr22	39117746	39117746	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcctttctgtgttggggcaGgtgggcagcaatgctggcat	15	8	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39117746G>C	ENST00000216044.5	+	5	1067		c.e5-1			NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1						GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGTTGGGGCAGGTGGGCAGCA	0.537																																																	0													124	101	109					22																	39117746		2203	4300	6503	SO:0001630	splice_region_variant	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.835-1G>C	22.37:g.39117746G>C			Q6IC67	Splice_Site	SNP	-	e5-1	ENST00000216044.5	37	c.835-1	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740387	0.89573	.	.	ENSG00000100226	ENST00000216044	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTPBP1	37447692	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.471000	0.97696	2.553000	0.86117	0.591000	0.81541	.	GTPBP1	-	-		0.537	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286	Intron	39117746	1	no_errors	ENST00000216044	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	39117746	G	C	39117746	5	2	153	1	0	0	0	0	0	0	1	0	6898	1014	35	4	852	4	GTPBP1	22	39117746	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	987313	39117746	12186820	1373	27347										
APOBEC3D	140564	genome.wustl.edu	37	chr22	39427902	39427902	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accgcccgcctctgctacttCtgggatacagattaccagga	9	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39427902C>T	ENST00000216099.8	+	6	1373	c.966C>T	c.(964-966)ttC>ttT	p.F322F	APOBEC3D_ENST00000427494.2_Silent_p.F138F|APOBEC3D_ENST00000381568.4_Silent_p.F322F	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	322					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCTGCTACTTCTGGGATACAG	0.607																																																	0													88	84	85					22																	39427902		1568	3582	5150	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.966C>T	22.37:g.39427902C>T			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F322	ENST00000216099.8	37	c.966	CCDS46709.1	22																																																																																			APOBEC3D	-	superfamily_Cytidine_deaminase-like		0.607	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	C	NM_152426		39427902	1	no_errors	ENST00000216099	ensembl	human	known	70_37	silent	SNP	0.000	T	T	39427902	C	T	39427902	2	4	153	1	0	0	0	0	0	0	0	1	792	912	32	1		1	APOBEC3D	22	39427902	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	310156	39427902	11876664	1374	27348										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39477000	39477000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cactggttcagcaagtggagGaagctgcatcgtgaccagga	14	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39477000G>T	ENST00000407997.3	+	3	591	c.234G>T	c.(232-234)agG>agT	p.R78S	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R78S	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	78	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCAAGTGGAGGAAGCTGCATC	0.552																																																	0													77	67	71					22																	39477000		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.234G>T	22.37:g.39477000G>T	ENSP00000385057:p.Arg78Ser		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R78S	ENST00000407997.3	37	c.234	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	7.466	0.645706	0.14451	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66280	-0.2;-0.2	1.84	-0.542	0.11854	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.62466	0.2430	M	0.76838	2.35	0.09310	N	1	P	0.36712	0.566	B	0.43990	0.438	T	0.57774	-0.7753	9	0.56958	D	0.05	.	2.6376	0.04962	0.2235:0.315:0.4615:0.0	.	78	Q9HC16	ABC3G_HUMAN	S	78	ENSP00000413376:R78S;ENSP00000385057:R78S	ENSP00000385057:R78S	R	+	3	2	APOBEC3G	37806946	0.030000	0.19436	0.000000	0.03702	0.002000	0.02628	0.936000	0.28938	-0.085000	0.12573	-0.719000	0.03609	AGG	APOBEC3G	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.552	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39477000	1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39477000	G	T	39477000	3	4	153	1	0	0	0	0	1	0	0	0	794	1165	41	3	244	3	APOBEC3G	22	39477000	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	49098	39477000	11827566	1375	27349										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39477025	39477025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgcatcgtgaccaggagtatGaggtcacctggtacatatcc	11	10	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39477025G>A	ENST00000407997.3	+	3	616	c.259G>A	c.(259-261)Gag>Aag	p.E87K	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E87K	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	87	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCAGGAGTATGAGGTCACCTG	0.532																																																	0													90	77	81					22																	39477025		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.259G>A	22.37:g.39477025G>A	ENSP00000385057:p.Glu87Lys		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.E87K	ENST00000407997.3	37	c.259	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	1.319	-0.600109	0.03744	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66460	-0.21;-0.21	2.44	-4.89	0.03103	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.38427	0.1040	N	0.25060	0.705	0.09310	N	1	B	0.17465	0.022	B	0.22880	0.042	T	0.40440	-0.9563	9	0.05525	T	0.97	.	2.2482	0.04036	0.5558:0.1758:0.1426:0.1258	.	87	Q9HC16	ABC3G_HUMAN	K	87	ENSP00000413376:E87K;ENSP00000385057:E87K	ENSP00000385057:E87K	E	+	1	0	APOBEC3G	37806971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.613000	0.05610	-1.601000	0.01601	-1.594000	0.00841	GAG	APOBEC3G	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39477025	1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	A	A	39477025	G	A	39477025	3	1	153	1	0	0	0	0	1	0	0	0	794	1291	45	1	269	1	APOBEC3G	22	39477025	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	25	39477025	11827541	1376	27350										
EP300	2033	genome.wustl.edu	37	chr22	41489064	41489064	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agccaagcggcctaaactctCatctccggccctctcggcgt	9	17	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:41489064C>G	ENST00000263253.7	+	1	1275	c.56C>G	c.(55-57)tCa>tGa	p.S19*	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	19	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTAAACTCTCATCTCCGGCC	0.557			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													60	71	67					22																	41489064		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.56C>G	22.37:g.41489064C>G	ENSP00000263253:p.Ser19*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S19*	ENST00000263253.7	37	c.56	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	47	13.385148	0.99739	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.7	4.7	0.59300	.	0.000000	0.33854	N	0.004499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9919	0.80211	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000263253:S19X	S	+	2	0	EP300	39819010	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.738000	0.74822	2.449000	0.82847	0.591000	0.81541	TCA	EP300	-	NULL		0.557	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41489064	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	41489064	C	G	41489064	4	3	153	1	0	0	0	0	0	1	0	0	5160	838	29	1	58	1	EP300	22	41489064	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2012039	41489064	9815502	1377	27351										
EP300	2033	genome.wustl.edu	37	chr22	41521980	41521980	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcagacaaaaactgtactatCaaataacttatctccatttg	3	9	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:41521980C>G	ENST00000263253.7	+	3	2061	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	281					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGTACTATCAAATAACTTA	0.423			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													118	109	112					22																	41521980		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.842C>G	22.37:g.41521980C>G	ENSP00000263253:p.Ser281*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S281*	ENST00000263253.7	37	c.842	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	48	14.002311	0.99774	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.82	5.82	0.92795	.	0.315874	0.22366	N	0.061018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.7175	14.0013	0.64436	0.2517:0.7483:0.0:0.0	.	.	.	.	X	281	.	ENSP00000263253:S281X	S	+	2	0	EP300	39851926	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.446000	0.60014	2.745000	0.94114	0.655000	0.94253	TCA	EP300	-	NULL		0.423	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41521980	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	41521980	C	G	41521980	4	3	153	1	0	0	0	0	0	1	0	0	5160	838	29	1	852	1	EP300	22	41521980	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	32916	41521980	9782586	1378	27352										
SEPT3	55964	genome.wustl.edu	37	chr22	42387592	42387592	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctaggttcgcaaggagcttGaagtaaatggcattgaattc	11	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:42387592G>C	ENST00000396426.3	+	7	940	c.685G>C	c.(685-687)Gaa>Caa	p.E229Q	SEPT3_ENST00000406029.1_Missense_Mutation_p.E165Q|SEPT3_ENST00000291236.11_Missense_Mutation_p.E165Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396425.3_Missense_Mutation_p.E229Q	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	229	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CAAGGAGCTTGAAGTAAATGG	0.502																																																	0													115	109	111					22																	42387592		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.685G>C	22.37:g.42387592G>C	ENSP00000379704:p.Glu229Gln		B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.E229Q	ENST00000396426.3	37	c.685	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033147	0.54896	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.28014	0.82	0.80722	D	1	P;B;B;P;P	0.42078	0.458;0.026;0.261;0.728;0.77	B;B;B;B;P	0.46144	0.099;0.065;0.159;0.282;0.505	T	0.02743	-1.1116	10	0.16896	T	0.51	.	19.1296	0.93400	0.0:0.0:1.0:0.0	.	165;216;165;229;229	B7Z686;A8K1X2;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;.;SEPT3_HUMAN	Q	229;165;229;165	ENSP00000379704:E229Q;ENSP00000383956:E165Q;ENSP00000379703:E229Q;ENSP00000291236:E165Q	ENSP00000291236:E165Q	E	+	1	0	SEPT3	40717538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.569000	0.67391	2.592000	0.87571	0.655000	0.94253	GAA	SEPT3	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.502	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	G	NM_145734		42387592	1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42387592	G	C	42387592	3	2	153	1	0	0	0	0	1	0	0	0	14095	1291	45	1	711	1	SEPT3	22	42387592	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	865612	42387592	8916974	1379	27353										
C22orf9	23313	genome.wustl.edu	37	chr22	45599773	45599773	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcgtagcggatggagccctGaaagatgaccccctggaacg	13	12	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:45599773G>A	ENST00000336156.5	-	6	675	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000443310.3_Nonsense_Mutation_p.Q186*|KIAA0930_ENST00000251993.7_Nonsense_Mutation_p.Q209*|KIAA0930_ENST00000391627.2_Nonsense_Mutation_p.Q170*|KIAA0930_ENST00000474515.1_5'Flank	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	204										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ATGGAGCCCTGAAAGATGACC	0.622																																																	0													244	170	195					22																	45599773		2203	4300	6503	SO:0001587	stop_gained	23313			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.610C>T	22.37:g.45599773G>A	ENSP00000336720:p.Gln204*		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Nonsense_Mutation	SNP	pfam_DUF2045	p.Q209*	ENST00000336156.5	37	c.625	CCDS33665.1	22	.	.	.	.	.	.	.	.	.	.	g	37	6.483617	0.97603	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.48	4.48	0.54585	.	0.055224	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-30.0212	17.5344	0.87825	0.0:0.0:1.0:0.0	.	.	.	.	X	204;89;209;170;186	.	ENSP00000251993:Q209X	Q	-	1	0	KIAA0930	43978437	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.174000	0.94824	2.201000	0.70794	0.556000	0.70494	CAG	KIAA0930	-	pfam_DUF2045		0.622	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	G	NM_001009880		45599773	-1	no_errors	ENST00000251993	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	45599773	G	A	45599773	4	1	153	1	0	0	0	0	0	1	0	0	2156	1299	45	1	624	1	C22orf9	22	45599773	Nonsense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3212181	45599773	5704793	1380	27354										
WNT7B	7477	genome.wustl.edu	37	chr22	46327115	46327115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccgccccacttccagccctCggcttggttgtagtagccct	10	17	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:46327115C>T	ENST00000339464.4	-	3	807	c.433G>A	c.(433-435)Gag>Aag	p.E145K	WNT7B_ENST00000410089.1_Missense_Mutation_p.E129K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E149K|WNT7B_ENST00000410058.1_Missense_Mutation_p.E145K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	145					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCAGCCCTCGGCTTGGTTG	0.687																																																	0													53	53	53					22																	46327115		2203	4300	6503	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.433G>A	22.37:g.46327115C>T	ENSP00000341032:p.Glu145Lys		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.E145K	ENST00000339464.4	37	c.433	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	c	7.014	0.557306	0.13436	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	3.21	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.60170	0.2248	L	0.35414	1.06	0.52501	D	0.999956	B;B	0.28291	0.206;0.206	B;B	0.28139	0.067;0.086	T	0.50180	-0.8858	10	0.19590	T	0.45	.	11.2576	0.49063	0.0:0.813:0.187:0.0	.	149;145	A8K0G1;P56706	.;WNT7B_HUMAN	K	145;129;149;145	ENSP00000341032:E145K;ENSP00000386781:E129K;ENSP00000386546:E149K;ENSP00000387217:E145K	ENSP00000341032:E145K	E	-	1	0	WNT7B	44705779	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	4.355000	0.59424	0.545000	0.28902	0.306000	0.20318	GAG	WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt7		0.687	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	C	NM_058238		46327115	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46327115	C	T	46327115	3	4	153	1	0	0	0	0	1	0	0	0	17426	893	31	1	624	1	WNT7B	22	46327115	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	727342	46327115	4977451	1381	27355										
PKDREJ	10343	genome.wustl.edu	37	chr22	46656322	46656322	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcgctgttgggtcccactgtGagattaaaagctgcaaaggt	12	8	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:46656322G>C	ENST00000253255.5	-	1	2897	c.2898C>G	c.(2896-2898)ctC>ctG	p.L966L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	966					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.L966L(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCCCACTGTGAGATTAAAAG	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											138	141	140					22																	46656322		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2898C>G	22.37:g.46656322G>C			B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.L966	ENST00000253255.5	37	c.2898	CCDS14073.1	22																																																																																			PKDREJ	-	NULL		0.493	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46656322	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.859	C	C	46656322	G	C	46656322	2	2	153	1	0	0	0	0	0	0	0	1	11994	1277	45	1		1	PKDREJ	22	46656322	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	329207	46656322	4648244	1382	27356										
MOV10L1	54456	genome.wustl.edu	37	chr22	50547268	50547268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctttgtatgaccctagtgaaGaggcggtaagaaaatgcttt	11	6	0	4	rs375784034		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50547268G>C	ENST00000262794.5	+	5	821	c.738G>C	c.(736-738)aaG>aaC	p.K246N	MOV10L1_ENST00000540615.1_Missense_Mutation_p.K226N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K246N|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K246N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	246					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCCTAGTGAAGAGGCGGTAAG	0.557																																																	0													105	90	95					22																	50547268		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.738G>C	22.37:g.50547268G>C	ENSP00000262794:p.Lys246Asn		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.K246N	ENST00000262794.5	37	c.738	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	g	6.972	0.549334	0.13374	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.32	-10.6	0.00265	.	0.914934	0.09624	N	0.777213	T	0.21427	0.0516	N	0.25890	0.77	0.18873	N	0.999983	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.13818	-1.0495	10	0.17832	T	0.49	-6.9039	10.6534	0.45661	0.1768:0.409:0.4143:0.0	.	226;246;246	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	N	246;246;246;226	ENSP00000438978:K246N;ENSP00000262794:K246N;ENSP00000379199:K246N;ENSP00000438542:K226N	ENSP00000262794:K246N	K	+	3	2	MOV10L1	48889395	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.305000	0.02738	-3.168000	0.00226	-1.844000	0.00574	AAG	MOV10L1	-	NULL		0.557	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50547268	1	no_errors	ENST00000262794	ensembl	human	known	70_37	missense	SNP	0.000	C	C	50547268	G	C	50547268	3	2	153	1	0	0	0	0	1	0	0	0	9742	933	33	1	797	1	MOV10L1	22	50547268	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3890946	50547268	757298	1383	27357										
TUBGCP6	85378	genome.wustl.edu	37	chr22	50667952	50667952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gagcaggctgctgatgctctCgggagacgctcctgacacgt	14	12	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50667952C>T	ENST00000248846.5	-	4	1275	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.E391K			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	391					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGATGCTCTCGGGAGACGCT	0.632																																																	0													45	33	37					22																	50667952		2200	4300	6500	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1171G>A	22.37:g.50667952C>T	ENSP00000248846:p.Glu391Lys		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.E391K	ENST00000248846.5	37	c.1171	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789631	0.90367	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08634	3.07;3.07	5.04	3.94	0.45596	.	0.581913	0.16979	N	0.191771	T	0.23886	0.0578	L	0.58101	1.795	0.47659	D	0.99948	D;D	0.76494	0.998;0.999	P;D	0.68039	0.89;0.955	T	0.00829	-1.1549	10	0.48119	T	0.1	.	15.4216	0.75015	0.0:0.8485:0.1515:0.0	.	391;391	B2RWN4;Q96RT7	.;GCP6_HUMAN	K	391	ENSP00000248846:E391K;ENSP00000397387:E391K	ENSP00000248846:E391K	E	-	1	0	TUBGCP6	49010079	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	5.367000	0.66127	2.338000	0.79540	0.462000	0.41574	GAG	TUBGCP6	-	pfam_Spc97_Spc98		0.632	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	C	NM_020461		50667952	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	0.995	T	T	50667952	C	T	50667952	3	4	153	1	0	0	0	0	1	0	0	0	16801	893	31	1	4376	1	TUBGCP6	22	50667952	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	120684	50667952	636614	1384	27358										
NCAPH2	29781	genome.wustl.edu	37	chr22	50959393	50959393	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accctgtgactgtctttgcaGagtgctgccctgcccaggag	12	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50959393G>C	ENST00000420993.2	+	10	983		c.e10-1		NCAPH2_ENST00000395701.3_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000520297.1_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGTCTTTGCAGAGTGCTGCCC	0.617																																																	0													40	38	39					22																	50959393		2055	3945	6000	SO:0001630	splice_region_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.862-1G>C	22.37:g.50959393G>C			B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	-	e10-1	ENST00000420993.2	37	c.862-1	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797207	0.31777	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9114	0.58182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49306259	1.000000	0.71417	0.933000	0.37362	0.022000	0.10575	4.964000	0.63701	2.298000	0.77334	0.484000	0.47621	.	NCAPH2	-	-		0.617	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299	Intron	50959393	1	no_errors	ENST00000299821	ensembl	human	known	70_37	splice_site	SNP	0.993	C	C	50959393	G	C	50959393	5	2	153	1	0	0	0	0	0	0	1	0	10234	956	33	1	938	1	NCAPH2	22	50959393	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	291441	50959393	345173	1385	27359										
NCAPH2	29781	genome.wustl.edu	37	chr22	50960969	50960969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggagtacatggagcccgaggGagcagaccccagggaagccg	17	11	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50960969G>A	ENST00000420993.2	+	16	1468	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	NCAPH2_ENST00000395701.3_Missense_Mutation_p.G449E|NCAPH2_ENST00000299821.11_Missense_Mutation_p.G450E|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	449					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GAGCCCGAGGGAGCAGACCCC	0.652																																																	0													54	66	62					22																	50960969		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1346G>A	22.37:g.50960969G>A	ENSP00000410088:p.Gly449Glu		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.G450E	ENST00000420993.2	37	c.1349	CCDS14094.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.187|1.187	-0.636396|-0.636396	0.03557|0.03557	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000522304|ENST00000420993;ENST00000395701;ENST00000299821	.|.	.|.	.|.	5.19|5.19	-0.205|-0.205	0.13196|0.13196	.|.	.|0.870158	.|0.09930	.|N	.|0.737338	T|T	0.18718|0.18718	0.0449|0.0449	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.003;0.006;0.004	.|B;B;B	.|0.16289	.|0.006;0.015;0.011	T|T	0.32824|0.32824	-0.9892|-0.9892	5|9	.|0.02654	.|T	.|1	-10.1361|-10.1361	1.6912|1.6912	0.02853|0.02853	0.2082:0.1539:0.4806:0.1573|0.2082:0.1539:0.4806:0.1573	.|.	.|450;427;449	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4	.|.;.;CNDH2_HUMAN	K|E	6|449;449;450	.|.	.|ENSP00000299821:G450E	E|G	+|+	1|2	0|0	NCAPH2|NCAPH2	49307835|49307835	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.099000|0.099000	0.15210|0.15210	0.474000|0.474000	0.27392|0.27392	0.655000|0.655000	0.94253|0.94253	GAG|GGA	NCAPH2	-	pfam_Condensin_II_H2-like		0.652	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50960969	1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50960969	G	A	50960969	3	1	153	1	0	0	0	0	1	0	0	0	10234	1174	41	1	1450	1	NCAPH2	22	50960969	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1576	50960969	343597	1386	27360										
KLHDC7B	113730	genome.wustl.edu	37	chr22	50986892	50986892	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacccgctgccccaagccgcGatgcccaggggccccgcaca	12	20	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50986892G>C	ENST00000395676.2	+	1	431	c.297G>C	c.(295-297)gcG>gcC	p.A99A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	99										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAAGCCGCGATGCCCAGGG	0.706																																																	0													5	7	7					22																	50986892		1872	3931	5803	SO:0001819	synonymous_variant	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.297G>C	22.37:g.50986892G>C				Silent	SNP	pfam_Kelch_1,smart_Kelch_1	p.A99	ENST00000395676.2	37	c.297	CCDS14097.2	22																																																																																			KLHDC7B	-	NULL		0.706	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50986892	1	no_errors	ENST00000395676	ensembl	human	known	70_37	silent	SNP	0.000	C	C	50986892	G	C	50986892	2	2	153	1	0	0	0	0	0	0	0	1	8381	1045	37	1		1	KLHDC7B	22	50986892	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	25923	50986892	317674	1387	27361										
WWC3	55841	genome.wustl.edu	37	chrX	10035326	10035326	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttttacctttttaaatttcaGaacttacccagattgaggat	5	7	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:10035326G>C	ENST00000380861.4	+	3	407		c.e3-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTAAATTTCAGAACTTACCCA	0.378																																																	0													36	31	33					X																	10035326		2203	4300	6503	SO:0001630	splice_region_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.17-1G>C	X.37:g.10035326G>C			A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	-	e2-1	ENST00000380861.4	37	c.17-1	CCDS14136.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795241|3.795241	0.70452|0.70452	.|.	.|.	ENSG00000047644|ENSG00000047644	ENST00000380861;ENST00000454666|ENST00000398613	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53270	.|0.1786	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45542	.|-0.9254	.|5	.|0.08599	.|T	.|0.76	.|.	17.5886|17.5886	0.87989|0.87989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|6	.|.	.|ENSP00000381614:E6Q	.|E	+|+	.|1	.|0	WWC3|WWC3	9995326|9995326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	9.590000|9.590000	0.98238|0.98238	2.081000|2.081000	0.62600|0.62600	0.506000|0.506000	0.49869|0.49869	.|GAA	WWC3	-	-		0.378	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	G	NM_015691	Intron	10035326	1	no_errors	ENST00000380861	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	10035326	G	C	10035326	5	2	153	1	0	0	0	0	0	0	1	0	17444	956	33	1	22	1	WWC3	23	10035326	Splice_Site	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09		10035326	145235234	1388	27362										
OFD1	8481	genome.wustl.edu	37	chrX	13779289	13779289	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	actgagtctaggcacagcctCtccatccctcctgtctccag	7	17	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:13779289C>T	ENST00000340096.6	+	17	2673	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L	OFD1_ENST00000380550.3_Silent_p.L742L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Silent_p.L642L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	782	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGCACAGCCTCTCCATCCCTC	0.517																																																	0													129	94	106					X																	13779289		2203	4300	6503	SO:0001819	synonymous_variant	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2346C>T	X.37:g.13779289C>T			B9ZVU5|O75666|Q4VAK4	Silent	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L782	ENST00000340096.6	37	c.2346	CCDS14157.1	X																																																																																			OFD1	-	NULL		0.517	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	C	NM_003611		13779289	1	no_errors	ENST00000340096	ensembl	human	known	70_37	silent	SNP	0.002	T	T	13779289	C	T	13779289	2	4	153	1	0	0	0	0	0	0	0	1	10862	900	32	1		1	OFD1	23	13779289	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3743963	13779289	141491271	1389	27363										
FIGF	2277	genome.wustl.edu	37	chrX	15376224	15376224	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttcacacaagggggcttgaaGaatgtgttggtactcttccc	11	9	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:15376224G>T	ENST00000297904.3	-	3	822	c.393C>A	c.(391-393)ttC>ttA	p.F131L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	131					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.F131L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GGGGCTTGAAGAATGTGTTGG	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											274	219	238					X																	15376224		2203	4300	6503	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.393C>A	X.37:g.15376224G>T	ENSP00000297904:p.Phe131Leu		B2R7Z3	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.F131L	ENST00000297904.3	37	c.393	CCDS14166.1	X	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909213	0.72868	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	4.24	0.50183	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.43646	1.37	0.46437	D	0.999044	D	0.76494	0.999	D	0.83275	0.996	T	0.63825	-0.6549	9	0.48119	T	0.1	-37.2445	8.2732	0.31857	0.261:0.0:0.739:0.0	.	131	O43915	VEGFD_HUMAN	L	131	.	ENSP00000297904:F131L	F	-	3	2	FIGF	15286145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.090000	0.50191	1.057000	0.40506	0.529000	0.55759	TTC	FIGF	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.498	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	HGNC	protein_coding	OTTHUMT00000055859.1	G	NM_004469		15376224	-1	no_errors	ENST00000297904	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15376224	G	T	15376224	3	4	153	1	0	0	0	0	1	0	0	0	5907	933	33	3	691	3	FIGF	23	15376224	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1596935	15376224	139894336	1390	27364										
CDKL5	6792	genome.wustl.edu	37	chrX	18622091	18622091	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agcaaggacatccagaacctGagtgtaggcctgccccgggc	13	13	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:18622091G>A	ENST00000379989.3	+	13	1332	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	CDKL5_ENST00000379996.3_Silent_p.L349L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	349					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCCAGAACCTGAGTGTAGGCC	0.468																																																	0													145	148	147					X																	18622091		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1047G>A	X.37:g.18622091G>A			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L349	ENST00000379989.3	37	c.1047	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.468	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	G	NM_003159		18622091	1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.990	A	A	18622091	G	A	18622091	2	1	153	1	0	0	0	0	0	0	0	1	3162	1277	45	1		1	CDKL5	23	18622091	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3245867	18622091	136648469	1391	27365										
PDHA1	5160	genome.wustl.edu	37	chrX	19372691	19372691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gactttatatggcgatggtgCtgctaaccaggtaattatgt	11	6	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:19372691C>A	ENST00000422285.2	+	6	698	c.593C>A	c.(592-594)gCt>gAt	p.A198D	PDHA1_ENST00000545074.1_Missense_Mutation_p.A205D|PDHA1_ENST00000379806.5_Missense_Mutation_p.A236D|PDHA1_ENST00000540249.1_Intron|PDHA1_ENST00000379804.1_5'Flank			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	198					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GGCGATGGTGCTGCTAACCAG	0.393																																																	0													217	189	199					X																	19372691		2203	4300	6503	SO:0001583	missense	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.593C>A	X.37:g.19372691C>A	ENSP00000394382:p.Ala198Asp		A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.A236D	ENST00000422285.2	37	c.707	CCDS14192.1	X	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984695	0.93044	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000422285	D;D;D	0.98012	-4.66;-4.66;-4.66	5.28	5.28	0.74379	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.99820	4.81	0.80722	D	1	D;D;D;D	0.71674	0.987;0.976;0.998;0.976	D;P;D;P	0.77557	0.935;0.896;0.99;0.896	D	0.97814	1.0252	10	0.87932	D	0	-6.6959	18.3112	0.90200	0.0:1.0:0.0:0.0	.	205;198;236;198	B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;ODPA_HUMAN	D	236;205;198	ENSP00000369134:A236D;ENSP00000438550:A205D;ENSP00000394382:A198D	ENSP00000369134:A236D	A	+	2	0	PDHA1	19282612	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.382000	0.79729	2.351000	0.79841	0.594000	0.82650	GCT	PDHA1	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.393	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDHA1	HGNC	protein_coding	OTTHUMT00000055977.1	C			19372691	1	no_errors	ENST00000379806	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19372691	C	A	19372691	3	1	153	1	0	0	0	0	1	0	0	0	11688	797	28	4	754	4	PDHA1	23	19372691	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	750600	19372691	135897869	1392	27366										
POLA1	5422	genome.wustl.edu	37	chrX	24717569	24717569	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agattcagggagttttgtatCttctcgagcccggcgagaaa	12	8	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:24717569C>G	ENST00000379059.3	+	2	68	c.53C>G	c.(52-54)tCt>tGt	p.S18C	POLA1_ENST00000379068.3_Missense_Mutation_p.S24C|AC004655.1_ENST00000577230.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	18					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AGTTTTGTATCTTCTCGAGCC	0.383																																																	0													21	22	22					X																	24717569		2200	4294	6494	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.53C>G	X.37:g.24717569C>G	ENSP00000368349:p.Ser18Cys		Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.S24C	ENST00000379059.3	37	c.71	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365887	0.24684	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.19669	2.13;2.13	5.05	3.22	0.36961	.	0.468088	0.23141	N	0.051474	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B;B	0.33448	0.412;0.138	B;B	0.30855	0.121;0.088	T	0.15838	-1.0423	10	0.66056	D	0.02	-2.0E-4	8.5464	0.33424	0.0:0.793:0.0:0.207	.	24;18	A6NMQ1;P09884	.;DPOLA_HUMAN	C	24;18	ENSP00000368358:S24C;ENSP00000368349:S18C	ENSP00000368349:S18C	S	+	2	0	POLA1	24627490	0.887000	0.30362	0.405000	0.26409	0.830000	0.47004	1.280000	0.33202	0.478000	0.27488	-0.322000	0.08575	TCT	POLA1	-	NULL		0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	C	NM_016937		24717569	1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	0.415	G	G	24717569	C	G	24717569	3	3	153	1	0	0	0	0	1	0	0	0	12211	913	32	1	59	1	POLA1	23	24717569	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5344878	24717569	130552991	1393	27367										
NR0B1	190	genome.wustl.edu	37	chrX	30326419	30326419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atggcttggacctgggaggcGgagggcaccttcctggcctc	16	12	0	0	rs371576376		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:30326419G>A	ENST00000378970.4	-	1	1296	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	NR0B1_ENST00000453287.1_Silent_p.S354S|NR0B1_ENST00000378963.1_Silent_p.S59S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	354	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGGGAGGCGGAGGGCACCT	0.627											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	43	44					X																	30326419		2202	4300	6502	SO:0001819	synonymous_variant	190			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1062C>T	X.37:g.30326419G>A		816	Q96F69	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.S354	ENST00000378970.4	37	c.1062	CCDS14223.1	X																																																																																			NR0B1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.627	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	G	NM_000475		30326419	-1	no_errors	ENST00000378970	ensembl	human	known	70_37	silent	SNP	0.000	A	A	30326419	G	A	30326419	2	1	153	1	0	0	0	0	0	0	0	1	10637	1103	39	2		2	NR0B1	23	30326419	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	5608850	30326419	124944141	1394	27368										
DMD	1756	genome.wustl.edu	37	chrX	32360327	32360327	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgccattgcggccccatcctCagacaagccctcagcttgcc	8	18	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:32360327C>T	ENST00000357033.4	-	41	6018	c.5812G>A	c.(5812-5814)Gag>Aag	p.E1938K	DMD_ENST00000378677.2_Missense_Mutation_p.E1934K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1938					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCCCATCCTCAGACAAGCCC	0.507																																																	0													100	70	80					X																	32360327		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5812G>A	X.37:g.32360327C>T	ENSP00000354923:p.Glu1938Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.E1938K	ENST00000357033.4	37	c.5812	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	5.069	0.198362	0.09652	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.54071	0.59;0.59	5.76	-1.0	0.10196	.	0.403035	0.17522	N	0.171216	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001	T	0.07195	-1.0785	10	0.14252	T	0.57	.	5.5825	0.17258	0.0:0.2747:0.2511:0.4742	.	1930;1938;1934;597;594	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1930;597;594;1934;1938;1938;1815	ENSP00000367948:E1934K;ENSP00000354923:E1938K	ENSP00000354923:E1938K	E	-	1	0	DMD	32270248	0.988000	0.35896	0.992000	0.48379	0.991000	0.79684	0.166000	0.16583	-0.268000	0.09312	0.594000	0.82650	GAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.507	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32360327	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32360327	C	T	32360327	3	4	153	1	0	0	0	0	1	0	0	0	4590	835	29	1	5549	1	DMD	23	32360327	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2033908	32360327	122910233	1395	27369										
MAGEB16	139604	genome.wustl.edu	37	chrX	35821128	35821128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggccaacagtgatcctgcacGatatgaattcctgtggggcc	12	11	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:35821128G>A	ENST00000399989.1	+	2	1094	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	MAGEB16_ENST00000399992.1_Missense_Mutation_p.R304Q|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R272Q|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R272Q|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R272Q	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GATCCTGCACGATATGAATTC	0.483																																																	0													38	38	38					X																	35821128		2198	4300	6498	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.815G>A	X.37:g.35821128G>A	ENSP00000382871:p.Arg272Gln		A8MU30	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R304Q	ENST00000399989.1	37	c.911	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	G	3.235	-0.156567	0.06544	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	-1.59	0.08453	.	0.391845	0.25596	N	0.029598	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	1	B	0.25272	0.122	B	0.23275	0.045	T	0.40136	-0.9579	10	0.30854	T	0.27	.	7.0052	0.24831	0.4389:0.0:0.5611:0.0	.	272	A2A368	MAGBG_HUMAN	Q	272;304;272;272;272	ENSP00000382870:R272Q;ENSP00000382874:R304Q;ENSP00000382869:R272Q;ENSP00000382871:R272Q;ENSP00000382867:R272Q	ENSP00000382867:R272Q	R	+	2	0	MAGEB16	35731049	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	0.027000	0.13621	-0.475000	0.06852	-0.367000	0.07326	CGA	MAGEB16	-	pfam_MAGE,pfscan_MAGE		0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	G			35821128	1	no_errors	ENST00000399992	ensembl	human	known	70_37	missense	SNP	0.000	A	A	35821128	G	A	35821128	3	1	153	1	0	0	0	0	1	0	0	0	9197	1058	37	1	817	1	MAGEB16	23	35821128	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3460801	35821128	119449432	1396	27370										
CXorf22	170063	genome.wustl.edu	37	chrX	35966468	35966468	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	taccacggccaattacccatCctcatttttccaactagtgg	5	14	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:35966468C>T	ENST00000297866.5	+	4	621	c.555C>T	c.(553-555)atC>atT	p.I185I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	185										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTACCCATCCTCATTTTTC	0.403																																																	0													207	163	178					X																	35966468		2202	4300	6502	SO:0001819	synonymous_variant	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.555C>T	X.37:g.35966468C>T			Q5JRM8|Q8N6X8	Silent	SNP	superfamily_PapD-like	p.I185	ENST00000297866.5	37	c.555	CCDS14237.2	X																																																																																			CXorf22	-	superfamily_PapD-like		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	C	NM_152632		35966468	1	no_errors	ENST00000297866	ensembl	human	known	70_37	silent	SNP	0.004	T	T	35966468	C	T	35966468	2	4	153	1	0	0	0	0	0	0	0	1	4107	845	30	1		1	CXorf22	23	35966468	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	145340	35966468	119304092	1397	27371										
RPGR	6103	genome.wustl.edu	37	chrX	38146058	38146058	+	Intron	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tccttctccatgctcctcctCccctccctcctccatctctt	1	23	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:38146058C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Nonsense_Mutation_p.E732*|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tgctcctcctcccctccctcc	0.532																																																	0													170	101	124					X																	38146058		2131	4209	6340	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+288G>T	X.37:g.38146058C>A			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E732*	ENST00000339363.3	37	c.2194		X	.	.	.	.	.	.	.	.	.	.	c	36	5.692335	0.96793	.	.	ENSG00000156313	ENST00000378505	.	.	.	2.37	1.46	0.22682	.	0.876252	0.08709	U	0.905204	.	.	.	.	.	.	0.21290	N	0.999739	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	8.2261	0.31570	0.0:0.8622:0.0:0.1378	.	.	.	.	X	732	.	ENSP00000367766:E732X	E	-	1	0	RPGR	38031002	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.806000	0.01735	0.238000	0.21222	0.353000	0.21931	GAG	RPGR	-	NULL		0.532	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38146058	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	38146058	C	A	38146058	1	1	153	0	1	0	0	0	0	0	0	0	13578	864	30	3		3	RPGR	23	38146058	Intron	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2179590	38146058	117124502	1398	27372										
MAOB	4129	genome.wustl.edu	37	chrX	43698186	43698186	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctagctccttggctaatctCaagatacgattctgggttgg	10	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:43698186C>G	ENST00000378069.4	-	3	354	c.207G>C	c.(205-207)ttG>ttC	p.L69F	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.L53F|MAOB_ENST00000538942.1_Missense_Mutation_p.L53F	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	69					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TGGCTAATCTCAAGATACGAT	0.403																																																	0													135	115	122					X																	43698186		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.207G>C	X.37:g.43698186C>G	ENSP00000367309:p.Leu69Phe		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.L69F	ENST00000378069.4	37	c.207	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826619	0.32329	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.93859	-3.3;-3.3;-3.3	5.13	2.48	0.30137	Amine oxidase (1);	0.000000	0.64402	D	0.000001	D	0.94159	0.8126	M	0.79343	2.45	0.54753	D	0.999989	D;P;P	0.58268	0.982;0.879;0.928	P;P;P	0.59012	0.85;0.792;0.766	D	0.90927	0.4787	10	0.20046	T	0.44	-6.9103	7.3672	0.26781	0.0:0.3682:0.0:0.6317	.	53;69;69	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	F	69;53;53	ENSP00000367309:L69F;ENSP00000441613:L53F;ENSP00000442240:L53F	ENSP00000367309:L69F	L	-	3	2	MAOB	43583130	0.993000	0.37304	0.996000	0.52242	0.572000	0.35998	0.285000	0.18883	0.709000	0.31976	-0.503000	0.04515	TTG	MAOB	-	pfam_Amino_oxidase		0.403	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	C	NM_000898		43698186	-1	no_errors	ENST00000378069	ensembl	human	known	70_37	missense	SNP	0.995	G	G	43698186	C	G	43698186	3	3	153	1	0	0	0	0	1	0	0	0	9249	825	29	1	1407	1	MAOB	23	43698186	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	5552128	43698186	111572374	1399	27373										
ZNF41	7592	genome.wustl.edu	37	chrX	47308716	47308716	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acatgacttaaaaggttattCtggttttcctgacgttgctc	8	8	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:47308716C>T	ENST00000377065.4	-	5	1092	c.453G>A	c.(451-453)caG>caA	p.Q151Q	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Silent_p.Q151Q|ZNF41_ENST00000397050.2_Silent_p.Q161Q	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AAAGGTTATTCTGGTTTTCCT	0.353																																																	0													112	95	101					X																	47308716		2203	4300	6503	SO:0001819	synonymous_variant	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.453G>A	X.37:g.47308716C>T			A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q161	ENST00000377065.4	37	c.483	CCDS14279.1	X																																																																																			ZNF41	-	NULL		0.353	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	C	NM_153380		47308716	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	silent	SNP	0.826	T	T	47308716	C	T	47308716	2	4	153	1	0	0	0	0	0	0	0	1	17919	912	32	1		1	ZNF41	23	47308716	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3610530	47308716	107961844	1400	27374										
ZNF41	7592	genome.wustl.edu	37	chrX	47308802	47308802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaatcttctcctatgggttGatcaaatctctcacagtgga	8	9	5	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:47308802G>C	ENST00000377065.4	-	5	1006	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Missense_Mutation_p.Q123E|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q133E	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	165	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CCTATGGGTTGATCAAATCTC	0.378																																																	0													53	46	48					X																	47308802		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.367C>G	X.37:g.47308802G>C	ENSP00000366265:p.Gln123Glu		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q133E	ENST00000377065.4	37	c.397	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.487172	0.01018	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.05513	3.43;3.43;3.44;6.11	3.1	3.1	0.35709	.	0.245759	0.21268	N	0.077374	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.32467	0.135;0.218;0.372;0.218;0.139	B;B;B;B;B	0.30316	0.06;0.06;0.114;0.06;0.027	T	0.45220	-0.9276	10	0.13470	T	0.59	.	8.8992	0.35484	0.0:0.0:1.0:0.0	.	123;125;133;157;165	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	E	123;123;133;133	ENSP00000315173:Q123E;ENSP00000366265:Q123E;ENSP00000380243:Q133E;ENSP00000390385:Q133E	ENSP00000315173:Q123E	Q	-	1	0	ZNF41	47193746	0.000000	0.05858	0.004000	0.12327	0.112000	0.19704	0.131000	0.15870	1.829000	0.53265	0.594000	0.82650	CAA	ZNF41	-	NULL		0.378	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	G	NM_153380		47308802	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	0.023	C	C	47308802	G	C	47308802	3	2	153	1	0	0	0	0	1	0	0	0	17919	1299	45	1	1976	1	ZNF41	23	47308802	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	86	47308802	107961758	1401	27375										
WDR13	64743	genome.wustl.edu	37	chrX	48458940	48458940	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgaggatggtcgctgcatcCgagagatccctgaccccgat	12	13	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:48458940C>T	ENST00000218056.5	+	5	1262	c.757C>T	c.(757-759)Cga>Tga	p.R253*	WDR13_ENST00000376729.5_Nonsense_Mutation_p.R253*	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	253						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCGCTGCATCCGAGAGATCCC	0.597																																																	0													95	60	72					X																	48458940		2203	4300	6503	SO:0001587	stop_gained	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.757C>T	X.37:g.48458940C>T	ENSP00000218056:p.Arg253*		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R253*	ENST00000218056.5	37	c.757	CCDS14302.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.593254	0.99214	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7266	14.9989	0.71455	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	ENSP00000218056:R253X	R	+	1	2	WDR13	48343884	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.878000	0.75567	2.127000	0.65507	0.436000	0.28706	CGA	WDR13	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.597	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	C			48458940	1	no_errors	ENST00000218056	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48458940	C	T	48458940	4	4	153	1	0	0	0	0	0	1	0	0	17306	644	23	2	775	2	WDR13	23	48458940	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1150138	48458940	106811620	1402	27376										
GLOD5	392465	genome.wustl.edu	37	chrX	48629375	48629375	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcactgtgttttggagaccaGaaatttaacctccacgaggt	10	9	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:48629375G>C	ENST00000303227.6	+	3	275	c.234G>C	c.(232-234)caG>caC	p.Q78H	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	78										endometrium(1)|lung(2)	3						TTGGAGACCAGAAATTTAACC	0.502																																																	0													45	41	42					X																	48629375		1855	4094	5949	SO:0001583	missense	392465				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.234G>C	X.37:g.48629375G>C	ENSP00000302552:p.Gln78His			Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom	p.Q78H	ENST00000303227.6	37	c.234	CCDS55410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.57|16.57	3.160471|3.160471	0.57368|0.57368	.|.	.|.	ENSG00000171433|ENSG00000171433	ENST00000303227|ENST00000445229	.|.	.|.	.|.	4.88|4.88	0.979|0.979	0.19745|0.19745	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65270|0.65270	0.2675|0.2675	M|M	0.84433|0.84433	2.695|2.695	0.43118|0.43118	D|D	0.994838|0.994838	P|.	0.49559|.	0.925|.	P|.	0.53450|.	0.726|.	T|T	0.60182|0.60182	-0.7313|-0.7313	9|5	0.51188|.	T|.	0.08|.	.|.	3.7704|3.7704	0.08639|0.08639	0.3864:0.0:0.4489:0.1648|0.3864:0.0:0.4489:0.1648	.|.	66|.	A6NK44|.	GLOD5_HUMAN|.	H|T	78|45	.|.	ENSP00000302552:Q78H|.	Q|R	+|+	3|2	2|0	GLOD5|GLOD5	48514319|48514319	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.985000|0.985000	0.73830|0.73830	0.678000|0.678000	0.25277|0.25277	-0.164000|-0.164000	0.10927|0.10927	0.380000|0.380000	0.24917|0.24917	CAG|AGA	GLOD5	-	pfam_Glyas_Fos-R_dOase_dom		0.502	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLOD5	HGNC	protein_coding		G	NM_001080489		48629375	1	no_errors	ENST00000303227	ensembl	human	known	70_37	missense	SNP	0.999	C	C	48629375	G	C	48629375	3	2	153	1	0	0	0	0	1	0	0	0	6470	933	33	1	244	1	GLOD5	23	48629375	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	170435	48629375	106641185	1403	27377										
MAGIX	79917	genome.wustl.edu	37	chrX	49022575	49022575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcggccgccgatggccccaCggtttctcctcctgagcgcc	13	18	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:49022575C>T	ENST00000412696.2	+	6	842	c.842C>T	c.(841-843)aCg>aTg	p.T281M	MAGIX_ENST00000376339.1_Missense_Mutation_p.T217M|MAGIX_ENST00000376338.3_Missense_Mutation_p.T222M|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Missense_Mutation_p.T205M	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	281																	GATGGCCCCACGGTTTCTCCT	0.697																																																	0													9	12	11					X																	49022575		1818	4037	5855	SO:0001583	missense	79917			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.842C>T	X.37:g.49022575C>T	ENSP00000387928:p.Thr281Met		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T281M	ENST00000412696.2	37	c.842	CCDS48106.1	X	.	.	.	.	.	.	.	.	.	.	.	13.91	2.377085	0.42105	.	.	ENSG00000017621	ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338	T;T;T;T	0.24538	1.94;2.2;1.96;1.85	3.65	-5.48	0.02592	.	1.498050	0.04785	N	0.430535	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	D;P;D;D	0.58620	0.981;0.798;0.983;0.983	B;B;P;P	0.45449	0.255;0.197;0.481;0.481	T	0.09058	-1.0692	10	0.56958	D	0.05	-0.4045	0.7275	0.00951	0.2749:0.1663:0.1352:0.4236	.	205;281;217;222	F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2	.;MAGIX_HUMAN;.;.	M	217;205;281;222	ENSP00000365517:T217M;ENSP00000403515:T205M;ENSP00000387928:T281M;ENSP00000365516:T222M	ENSP00000365516:T222M	T	+	2	0	MAGIX	48909519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.427000	0.00474	-1.475000	0.01876	-1.170000	0.01741	ACG	MAGIX	-	NULL		0.697	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	C	NM_024859		49022575	1	no_errors	ENST00000412696	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49022575	C	T	49022575	3	4	153	1	0	0	0	0	1	0	0	0	9216	536	19	2	904	2	MAGIX	23	49022575	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	393200	49022575	106247985	1404	27378										
PRICKLE3	4007	genome.wustl.edu	37	chrX	49034710	49034710	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	atggtagaagtagatgaggtCaaccagcagttcctggcacg	13	8	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:49034710C>G	ENST00000376317.3	-	6	773	c.679G>C	c.(679-681)Gac>Cac	p.D227H	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.D214H|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.D146H|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.D159H	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	227	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TAGATGAGGTCAACCAGCAGT	0.612																																																	0													71	47	55					X																	49034710		2201	4298	6499	SO:0001583	missense	4007			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.679G>C	X.37:g.49034710C>G	ENSP00000365494:p.Asp227His		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D227H	ENST00000376317.3	37	c.679	CCDS14320.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.217272|4.217272	0.79352|0.79352	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382;ENST00000432913	D;D;D;D|.	0.87809|.	-2.3;-2.3;-2.3;-2.3|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Zinc finger, LIM-type (4);|.	0.000000|.	0.40385|.	N|.	0.001114|.	T|.	0.76637|.	0.4015|.	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.993|.	T|.	0.78679|.	-0.2110|.	10|.	0.66056|.	D|.	0.02|.	0.053|0.053	14.9619|14.9619	0.71164|0.71164	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	227;189;146;227|.	B2RBS3;B7Z6S4;B7Z8F2;O43900|.	.;.;.;PRIC3_HUMAN|.	H|S	227;146;159;214|239;237	ENSP00000365494:D227H;ENSP00000441385:D146H;ENSP00000446051:D159H;ENSP00000441743:D214H|.	ENSP00000365494:D227H|.	D|X	-|-	1|2	0|2	PRICKLE3|PRICKLE3	48921654|48921654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	7.666000|7.666000	0.83877|0.83877	2.119000|2.119000	0.64992|0.64992	0.511000|0.511000	0.50034|0.50034	GAC|TGA	PRICKLE3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	C	NM_006150		49034710	-1	no_errors	ENST00000376317	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49034710	C	G	49034710	3	3	153	1	0	0	0	0	1	0	0	0	12515	826	29	1	1184	1	PRICKLE3	23	49034710	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	12135	49034710	106235850	1405	27379										
HUWE1	10075	genome.wustl.edu	37	chrX	53560326	53560326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agccaacagtagcatgtggcGgagcttctcaaagctctcat	10	11	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53560326G>A	ENST00000342160.3	-	83	13526	c.13069C>T	c.(13069-13071)Cgc>Tgc	p.R4357C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4357C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4357	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCATGTGGCGGAGCTTCTCA	0.478																																																	0													50	46	48					X																	53560326		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13069C>T	X.37:g.53560326G>A	ENSP00000340648:p.Arg4357Cys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4357C	ENST00000342160.3	37	c.13069	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.535329|1.535329	0.27475|0.27475	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.59772	.|0.24;0.24	5.3|5.3	5.3|5.3	0.74995|0.74995	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80722|0.80722	0.4677|0.4677	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.994;0.99	D|D	0.85149|0.85149	0.0985|0.0985	5|10	.|0.87932	.|D	.|0	.|.	16.9323|16.9323	0.86193|0.86193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4357;4341	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	L|C	3390;1179|4357	.|ENSP00000340648:R4357C;ENSP00000262854:R4357C	.|ENSP00000262854:R4357C	P|R	-|-	2|1	0|0	HUWE1|HUWE1	53577051|53577051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.376000|5.376000	0.66178|0.66178	2.347000|2.347000	0.79759|0.79759	0.513000|0.513000	0.50165|0.50165	CCG|CGC	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53560326	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53560326	G	A	53560326	3	1	153	1	0	0	0	0	1	0	0	0	7481	1116	39	2	59	2	HUWE1	23	53560326	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4525616	53560326	101710234	1406	27380										
HUWE1	10075	genome.wustl.edu	37	chrX	53588727	53588727	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgtatcttactagcactggaGaacatgttgtcaaactcaat	7	8	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53588727G>C	ENST00000342160.3	-	54	7954	c.7497C>G	c.(7495-7497)ttC>ttG	p.F2499L	HUWE1_ENST00000262854.6_Missense_Mutation_p.F2499L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2499					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGCACTGGAGAACATGTTGT	0.463																																																	0													99	78	85					X																	53588727		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7497C>G	X.37:g.53588727G>C	ENSP00000340648:p.Phe2499Leu		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.F2499L	ENST00000342160.3	37	c.7497	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.893851|2.893851	0.52121|0.52121	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37058|.	1.22;1.22|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.141227|.	0.50627|.	D|.	0.000104|.	T|T	0.55847|0.55847	0.1946|0.1946	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P;B|.	0.49447|.	0.924;0.001|.	P;B|.	0.57776|.	0.827;0.003|.	T|T	0.51741|0.51741	-0.8667|-0.8667	10|5	0.41790|.	T|.	0.15|.	.|.	17.2255|17.2255	0.86969|0.86969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2499;2499|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	L|V	2499|1533	ENSP00000340648:F2499L;ENSP00000262854:F2499L|.	ENSP00000262854:F2499L|.	F|L	-|-	3|1	2|0	HUWE1|HUWE1	53605452|53605452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.611000|4.611000	0.61162|0.61162	2.334000|2.334000	0.79466|0.79466	0.506000|0.506000	0.49869|0.49869	TTC|CTC	HUWE1	-	NULL		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53588727	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53588727	G	C	53588727	3	2	153	1	0	0	0	0	1	0	0	0	7481	933	33	1	5747	1	HUWE1	23	53588727	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	28401	53588727	101681833	1407	27381										
HUWE1	10075	genome.wustl.edu	37	chrX	53589104	53589104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctcatcttcctcctcctcctCctcttcatcctgactatcat	1	19	5	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53589104C>T	ENST00000342160.3	-	53	7763	c.7306G>A	c.(7306-7308)Gag>Aag	p.E2436K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2436K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2436	Asp-rich.|Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						tcctcctcctcctcttcatcc	0.517																																																	0													174	105	128					X																	53589104		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7306G>A	X.37:g.53589104C>T	ENSP00000340648:p.Glu2436Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2436K	ENST00000342160.3	37	c.7306	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.884638|1.884638	0.33255|0.33255	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.42513|.	0.97;0.97|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.819098|.	0.10977|.	N|.	0.613067|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.08118|0.08118	0|0	0.50039|0.50039	D|D	0.999844|0.999844	D;D|.	0.56968|.	0.963;0.978|.	B;P|.	0.49953|.	0.424;0.627|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.35671|.	T|.	0.21|.	.|.	16.1977|16.1977	0.82042|0.82042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2436;2436|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|E	2436|1469	ENSP00000340648:E2436K;ENSP00000262854:E2436K|.	ENSP00000262854:E2436K|.	E|G	-|-	1|2	0|0	HUWE1|HUWE1	53605829|53605829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.638000|6.638000	0.74309|0.74309	2.164000|2.164000	0.68074|0.68074	0.513000|0.513000	0.50165|0.50165	GAG|GGA	HUWE1	-	NULL		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53589104	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53589104	C	T	53589104	3	4	153	1	0	0	0	0	1	0	0	0	7481	864	30	1	5942	1	HUWE1	23	53589104	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	377	53589104	101681456	1408	27382										
HUWE1	10075	genome.wustl.edu	37	chrX	53655822	53655822	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctccaagtggacaattgatGttaatgttcgtaaagaagct	9	6	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53655822G>C	ENST00000342160.3	-	13	1452	c.995C>G	c.(994-996)aCa>aGa	p.T332R	HUWE1_ENST00000218328.8_Missense_Mutation_p.T332R|HUWE1_ENST00000262854.6_Missense_Mutation_p.T332R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	332					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACAATTGATGTTAATGTTCG	0.378																																																	0													99	81	87					X																	53655822		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.995C>G	X.37:g.53655822G>C	ENSP00000340648:p.Thr332Arg		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.T332R	ENST00000342160.3	37	c.995	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630775	0.87660	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.67865	-0.2;-0.2;-0.29	5.73	5.73	0.89815	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.500370	0.21014	N	0.081640	D	0.82351	0.5018	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83986	0.0335	10	0.87932	D	0	.	17.5631	0.87912	0.0:0.0:1.0:0.0	.	332	Q7Z6Z7	HUWE1_HUMAN	R	332	ENSP00000340648:T332R;ENSP00000262854:T332R;ENSP00000218328:T332R	ENSP00000218328:T332R	T	-	2	0	HUWE1	53672547	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.274000	0.95731	2.418000	0.82041	0.600000	0.82982	ACA	HUWE1	-	pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold		0.378	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53655822	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53655822	G	C	53655822	3	2	153	1	0	0	0	0	1	0	0	0	7481	1377	48	4	12413	4	HUWE1	23	53655822	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	66718	53655822	101614738	1409	27383										
KIF4A	24137	genome.wustl.edu	37	chrX	69561767	69561767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtcagacagcccagatgttgGagaggatcattttggtaagc	13	7	2	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:69561767G>C	ENST00000374403.3	+	11	1334	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	KIF4A_ENST00000374388.3_Missense_Mutation_p.E418Q	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	418					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCAGATGTTGGAGAGGATCAT	0.413																																																	0													100	100	100					X																	69561767		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1252G>C	X.37:g.69561767G>C	ENSP00000363524:p.Glu418Gln		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E418Q	ENST00000374403.3	37	c.1252	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898941	0.72754	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.61742	0.08;0.08	4.77	4.77	0.60923	.	0.000000	0.56097	D	0.000022	T	0.74122	0.3675	M	0.70275	2.135	0.58432	D	0.999999	D;P	0.89917	1.0;0.929	D;P	0.87578	0.998;0.834	T	0.74931	-0.3496	10	0.42905	T	0.14	.	15.4492	0.75259	0.0:0.0:1.0:0.0	.	418;418	O95239;O95239-2	KIF4A_HUMAN;.	Q	418	ENSP00000363509:E418Q;ENSP00000363524:E418Q	ENSP00000363509:E418Q	E	+	1	0	KIF4A	69478492	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.242000	0.89818	2.203000	0.70933	0.422000	0.28245	GAG	KIF4A	-	NULL		0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69561767	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69561767	G	C	69561767	3	2	153	1	0	0	0	0	1	0	0	0	8323	1175	41	1	1290	1	KIF4A	23	69561767	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	15905945	69561767	85708793	1410	27384										
ACRC	93953	genome.wustl.edu	37	chrX	70832407	70832407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaatgtactggatgcaaaacGaggtaagactcttctcagac	10	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:70832407G>A	ENST00000373695.1	+	11	2490	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.T651T			Q96QF7	ACRC_HUMAN	acidic repeat containing	651	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATGCAAAACGAGGTAAGACT	0.458																																																	0													56	47	50					X																	70832407		2203	4300	6503	SO:0001819	synonymous_variant	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1953G>A	X.37:g.70832407G>A			B9EG62	Silent	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.T651	ENST00000373695.1	37	c.1953	CCDS35326.1	X																																																																																			ACRC	-	pfam_SprT-like_domain,smart_SprT-like_domain		0.458	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	G			70832407	1	no_errors	ENST00000373695	ensembl	human	known	70_37	silent	SNP	0.932	A	A	70832407	G	A	70832407	2	1	153	1	0	0	0	0	0	0	0	1	171	1045	37	1		1	ACRC	23	70832407	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1270640	70832407	84438153	1411	27385										
ABCB7	22	genome.wustl.edu	37	chrX	74295395	74295395	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctattcttcggattgaattCtgggctaccttgccaaatac	8	10	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:74295395C>G	ENST00000373394.3	-	6	664	c.657G>C	c.(655-657)caG>caC	p.Q219H	ABCB7_ENST00000253577.3_Missense_Mutation_p.Q220H|ABCB7_ENST00000339447.4_Missense_Mutation_p.Q179H|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	219	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGATTGAATTCTGGGCTACCT	0.403																																																	0													91	78	83					X																	74295395		2203	4300	6503	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.657G>C	X.37:g.74295395C>G	ENSP00000362492:p.Gln219His		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q220H	ENST00000373394.3	37	c.660		X	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339328	0.41398	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524	D;D;D;D;D	0.92348	-2.64;-2.64;-2.64;-2.64;-3.02	5.58	4.41	0.53225	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.050355	0.85682	D	0.000000	D	0.92182	0.7521	M	0.79926	2.475	0.80722	D	1	B;B;B;B;B	0.27498	0.149;0.073;0.09;0.18;0.073	B;B;B;B;B	0.37387	0.16;0.12;0.19;0.248;0.12	D	0.88806	0.3288	10	0.54805	T	0.06	-27.557	7.6685	0.28445	0.0:0.1659:0.0:0.8341	.	193;179;220;219;220	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	H	193;220;179;219;193;164	ENSP00000253577:Q220H;ENSP00000343849:Q179H;ENSP00000362492:Q219H;ENSP00000436586:Q193H;ENSP00000435521:Q164H	ENSP00000253577:Q220H	Q	-	3	2	ABCB7	74212120	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.063000	0.41423	0.734000	0.32515	-0.499000	0.04595	CAG	ABCB7	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.403	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	C	NM_004299		74295395	-1	no_errors	ENST00000253577	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74295395	C	G	74295395	3	3	153	1	0	0	0	0	1	0	0	0	46	912	32	1	1645	1	ABCB7	23	74295395	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3462988	74295395	80975165	1412	27386										
MAGEE1	57692	genome.wustl.edu	37	chrX	75649466	75649466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggatcggacacctccgtgccGcccactcctggtgagggcgc	14	16	0	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:75649466G>A	ENST00000361470.2	+	1	1421	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	381	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACTCCTG	0.672																																																	0													43	29	34					X																	75649466		2203	4299	6502	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1143G>A	X.37:g.75649466G>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.P381	ENST00000361470.2	37	c.1143	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.672	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649466	1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.001	A	A	75649466	G	A	75649466	2	1	153	1	0	0	0	0	0	0	0	1	9208	1074	38	2		2	MAGEE1	23	75649466	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1354071	75649466	79621094	1413	27387										
PABPC5	140886	genome.wustl.edu	37	chrX	90690684	90690684	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	accgaggacatgctctataaGaagttcaggcctgctggccc	11	12	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:90690684G>A	ENST00000312600.3	+	2	322	c.108G>A	c.(106-108)aaG>aaA	p.K36K	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGCTCTATAAGAAGTTCAGGC	0.572																																																	0													57	45	49					X																	90690684		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.108G>A	X.37:g.90690684G>A			A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.K36	ENST00000312600.3	37	c.108	CCDS14460.1	X																																																																																			PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	G	NM_080832		90690684	1	no_errors	ENST00000312600	ensembl	human	known	70_37	silent	SNP	1.000	A	A	90690684	G	A	90690684	2	1	153	1	0	0	0	0	0	0	0	1	11391	933	33	1		1	PABPC5	23	90690684	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	15041218	90690684	64579876	1414	27388										
PCDH11X	27328	genome.wustl.edu	37	chrX	91133194	91133194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgaggatggtggtagagtatCacgttcttcaagtgccaaag	13	6	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:91133194C>T	ENST00000373094.1	+	2	2800	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.S652L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S652L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S652L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S652L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGTAGAGTATCACGTTCTTCA	0.373																																					NSCLC(38;925 1092 2571 38200 45895)												0													59	52	55					X																	91133194		2202	4281	6483	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1955C>T	X.37:g.91133194C>T	ENSP00000362186:p.Ser652Leu		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S652L	ENST00000373094.1	37	c.1955	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474409	0.43942	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.35	4.43	0.53597	Cadherin (4);Cadherin-like (1);	0.276324	0.36167	N	0.002746	T	0.48484	0.1502	L	0.42581	1.335	0.29349	N	0.865492	P;B;P;P;P;P;P;P	0.42161	0.486;0.431;0.73;0.73;0.73;0.772;0.486;0.486	B;B;P;P;P;P;B;B	0.49192	0.268;0.352;0.467;0.467;0.467;0.602;0.268;0.268	T	0.51872	-0.8650	10	0.87932	D	0	.	10.1408	0.42734	0.3843:0.6157:0.0:0.0	.	652;652;652;652;652;652;652;652	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	652	ENSP00000378746:S652L;ENSP00000362186:S652L;ENSP00000362189:S652L;ENSP00000355040:S652L;ENSP00000362180:S652L;ENSP00000423762:S652L;ENSP00000355105:S652L;ENSP00000384758:S652L;ENSP00000298274:S652L	ENSP00000298274:S652L	S	+	2	0	PCDH11X	91019850	0.991000	0.36638	0.971000	0.41717	0.981000	0.71138	2.888000	0.48594	2.212000	0.71576	0.415000	0.27848	TCA	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91133194	1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	0.951	T	T	91133194	C	T	91133194	3	4	153	1	0	0	0	0	1	0	0	0	11532	838	29	1	1961	1	PCDH11X	23	91133194	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	442510	91133194	64137366	1415	27389										
CXorf57	55086	genome.wustl.edu	37	chrX	105876458	105876458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgttttcaacatcgcagccaGaaatctttgaaaatatttac	5	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:105876458G>A	ENST00000372548.4	+	6	1388	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	CXorf57_ENST00000372544.2_Missense_Mutation_p.E427K	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	427							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCGCAGCCAGAAATCTTTGA	0.323																																																	0													53	51	52					X																	105876458		2203	4299	6502	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1279G>A	X.37:g.105876458G>A	ENSP00000361628:p.Glu427Lys		H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E427K	ENST00000372548.4	37	c.1279	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723017	0.68959	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.50001	0.81;0.76;0.85	4.45	3.58	0.41010	.	0.269301	0.41605	N	0.000843	T	0.55609	0.1931	L	0.54323	1.7	0.34051	D	0.656087	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.55011	0.766;0.703;0.723	T	0.69420	-0.5150	10	0.56958	D	0.05	-11.1943	12.9726	0.58522	0.0:0.1605:0.8395:0.0	.	427;427;427	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	K	427;427;235	ENSP00000361623:E427K;ENSP00000361628:E427K;ENSP00000405866:E235K	ENSP00000361623:E427K	E	+	1	0	CXorf57	105763114	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.233000	0.89799	0.963000	0.38082	0.594000	0.82650	GAA	CXorf57	-	NULL		0.323	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	G	NM_018015		105876458	1	no_errors	ENST00000372548	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105876458	G	A	105876458	3	1	153	1	0	0	0	0	1	0	0	0	4118	943	33	1	1301	1	CXorf57	23	105876458	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	14743264	105876458	49394102	1416	27390										
MID2	11043	genome.wustl.edu	37	chrX	107148838	107148839	+	Frame_Shift_Ins	INS	-	-	A													0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gcacggtttctacagtctgcINSaaaaaatattgctgagaggt							TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:107148838_107148839insA	ENST00000262843.6	+	5	1603_1604	c.1055_1056insA	c.(1054-1059)gcaaaafs	p.AK352fs	MID2_ENST00000443968.2_Frame_Shift_Ins_p.AK352fs|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	352	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTACAGTCTGCAAAAAATATTG	0.421																																																	0																																										SO:0001589	frameshift_variant	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1061dupA	X.37:g.107148844_107148844dupA	ENSP00000262843:p.Ala352fs		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Frame_Shift_Ins	INS	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.N354fs	ENST00000262843.6	37	c.1055_1056	CCDS14532.2	X																																																																																			MID2	-	smart_Bbox_C		0.421	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	-	NM_012216		107148839	1	no_errors	ENST00000262843	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	107148839	-	A	107148838	7	5	153	1	0	1	1	0	0	0	0	0	9601	710	25	0	1073	0	MID2	23	107148838	Frame_Shift_Ins	INS	-	TCGA-IR-A3LK-01A-12D-A20U-09	1272380	107148838	48121722	1417	27391										
CHRDL1	91851	genome.wustl.edu	37	chrX	110002983	110002983	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctgcaaagcacattcccattCtgaaaaagagaaggcaatga	8	9	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:110002983C>T	ENST00000372045.1	-	4	321		c.e4-1		CHRDL1_ENST00000218054.4_Splice_Site|CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000434224.1_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site			Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATTCCCATTCTGAAAAAGAG	0.478																																																	0													114	101	105					X																	110002983		2203	4300	6503	SO:0001630	splice_region_variant	91851			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.190-1G>A	X.37:g.110002983C>T			B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Splice_Site	SNP	-	e3-1	ENST00000372045.1	37	c.208-1		X	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545208	0.45280	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5649	0.87917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRDL1	109889639	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	5.084000	0.64462	2.618000	0.88619	0.600000	0.82982	.	CHRDL1	-	-		0.478	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	HGNC	protein_coding	OTTHUMT00000057912.1	C	NM_145234	Intron	110002983	-1	no_errors	ENST00000372042	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	110002983	C	T	110002983	5	4	153	1	0	0	0	0	0	0	1	0	3378	927	32	1	1205	1	CHRDL1	23	110002983	Splice_Site	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	2854145	110002983	45267577	1418	27392										
TRPC5	7224	genome.wustl.edu	37	chrX	111195357	111195357	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tatggcatagagcaatgcatCacccacatacacgctgtggt	9	11	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:111195357C>T	ENST00000262839.2	-	2	1210	c.292G>A	c.(292-294)Gat>Aat	p.D98N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	98					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAATGCATCACCCACATAC	0.567																																																	0													159	136	144					X																	111195357		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.292G>A	X.37:g.111195357C>T	ENSP00000262839:p.Asp98Asn		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D98N	ENST00000262839.2	37	c.292	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.217224	0.95104	.	.	ENSG00000072315	ENST00000262839	T	0.63913	-0.07	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.044806	0.85682	D	0.000000	T	0.78130	0.4235	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78986	-0.1987	10	0.56958	D	0.05	-5.1168	18.6162	0.91303	0.0:1.0:0.0:0.0	.	99;98	Q59G51;Q9UL62	.;TRPC5_HUMAN	N	98	ENSP00000262839:D98N	ENSP00000262839:D98N	D	-	1	0	TRPC5	111082013	1.000000	0.71417	0.919000	0.36401	0.978000	0.69477	7.818000	0.86416	2.339000	0.79563	0.513000	0.50165	GAT	TRPC5	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel		0.567	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	C	NM_012471		111195357	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111195357	C	T	111195357	3	4	153	1	0	0	0	0	1	0	0	0	16613	826	29	1	2669	1	TRPC5	23	111195357	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1192374	111195357	44075203	1419	27393										
SLC6A14	11254	genome.wustl.edu	37	chrX	115582693	115582693	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctatcatcttacaataagttCaaaaacaactgcttctctga	3	10	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:115582693C>G	ENST00000371900.4	+	8	1105	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	339					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ACAATAAGTTCAAAAACAACT	0.393																																																	0													164	142	149					X																	115582693		2203	4300	6503	SO:0001583	missense	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1017C>G	X.37:g.115582693C>G	ENSP00000360967:p.Phe339Leu		Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.F339L	ENST00000371900.4	37	c.1017	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751042	0.69533	.	.	ENSG00000087916	ENST00000371900	T	0.75260	-0.92	5.44	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	M	0.86343	2.81	0.43579	D	0.995916	D	0.89917	1.0	D	0.91635	0.999	D	0.86481	0.1791	10	0.87932	D	0	.	9.5662	0.39400	0.0:0.7875:0.0:0.2125	.	339	Q9UN76	S6A14_HUMAN	L	339	ENSP00000360967:F339L	ENSP00000360967:F339L	F	+	3	2	SLC6A14	115496721	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.562000	0.23531	1.052000	0.40392	0.544000	0.68410	TTC	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.393	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	C			115582693	1	no_errors	ENST00000371900	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115582693	C	G	115582693	3	3	153	1	0	0	0	0	1	0	0	0	14707	825	29	1	1047	1	SLC6A14	23	115582693	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4387336	115582693	39687867	1420	27394										
KLHL13	90293	genome.wustl.edu	37	chrX	117043457	117043457	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ctctgtccgccaaccacataGagaaaatttccaatgacggc	7	13	1	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:117043457G>C	ENST00000262820.3	-	5	2082	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	KLHL13_ENST00000540167.1_Silent_p.L375L|KLHL13_ENST00000371882.1_Silent_p.L340L|KLHL13_ENST00000539496.1_Silent_p.L394L|KLHL13_ENST00000545703.1_Silent_p.L349L|KLHL13_ENST00000371876.1_Silent_p.L340L|KLHL13_ENST00000469946.1_Silent_p.L340L|KLHL13_ENST00000371878.1_Silent_p.L340L|KLHL13_ENST00000541812.1_Silent_p.L375L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	391					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAACCACATAGAGAAAATTTC	0.438													G|||	3	0.000794702	0	0	3775	,	,		14905	0		0	False		,,,				2504	0.0031																0													103	89	94					X																	117043457		2203	4300	6503	SO:0001819	synonymous_variant	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1173C>G	X.37:g.117043457G>C			B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L394	ENST00000262820.3	37	c.1182	CCDS14571.1	X																																																																																			KLHL13	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.438	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		G	NM_033495		117043457	-1	no_errors	ENST00000539496	ensembl	human	known	70_37	silent	SNP	0.990	C	C	117043457	G	C	117043457	2	2	153	1	0	0	0	0	0	0	0	1	8389	929	33	1		1	KLHL13	23	117043457	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1460764	117043457	38227103	1421	27395										
DOCK11	139818	genome.wustl.edu	37	chrX	117783038	117783038	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acttttgtatcttttgatgaGaaacaactttgagtatacca	6	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:117783038G>C	ENST00000276202.7	+	41	4592	c.4529G>C	c.(4528-4530)aGa>aCa	p.R1510T	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1510T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1510					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTTTTGATGAGAAACAACTTT	0.373																																																	0													141	138	139					X																	117783038		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4529G>C	X.37:g.117783038G>C	ENSP00000276202:p.Arg1510Thr		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1510T	ENST00000276202.7	37	c.4529	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814980	0.70912	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.01871	4.59;4.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.91090	3.175	0.49798	D	0.999829	D;D	0.62365	0.991;0.991	P;P	0.61477	0.889;0.889	T	0.01512	-1.1336	10	0.87932	D	0	-22.4901	18.7528	0.91821	0.0:0.0:1.0:0.0	.	1510;1510	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1510	ENSP00000276204:R1510T;ENSP00000276202:R1510T	ENSP00000276202:R1510T	R	+	2	0	DOCK11	117667066	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.258000	0.58822	2.374000	0.81015	0.429000	0.28392	AGA	DOCK11	-	NULL		0.373	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117783038	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117783038	G	C	117783038	3	2	153	1	0	0	0	0	1	0	0	0	4696	942	33	1	4691	1	DOCK11	23	117783038	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	739581	117783038	37487522	1422	27396										
NDUFA1	4694	genome.wustl.edu	37	chrX	119007294	119007294	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gggttgctcattttgggtatCactggagtctgatggaaaga	14	5	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:119007294C>A	ENST00000371437.4	+	2	555	c.130C>A	c.(130-132)Cac>Aac	p.H44N	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	44					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TTTTGGGTATCACTGGAGTCT	0.393																																																	0													172	149	156					X																	119007294		2203	4300	6503	SO:0001583	missense	4694				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"Mitochondrial respiratory chain complex / Complex I"	7683	protein-coding gene	gene with protein product	"NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit"	300078	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.130C>A	X.37:g.119007294C>A	ENSP00000360492:p.His44Asn			Missense_Mutation	SNP	pirsf_NADH_Ub_cplx-1_asu_su-1	p.H44N	ENST00000371437.4	37	c.130	CCDS14590.1	X	.	.	.	.	.	.	.	.	.	.	C	3.515	-0.098903	0.07010	.	.	ENSG00000125356	ENST00000371437	T	0.71222	-0.55	4.88	1.97	0.26223	.	0.330306	0.33290	N	0.005074	T	0.54647	0.1871	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.49457	-0.8938	9	0.66056	D	0.02	-1.1731	4.3192	0.11009	0.0:0.6116:0.186:0.2024	.	44	O15239	NDUA1_HUMAN	N	44	ENSP00000360492:H44N	ENSP00000360492:H44N	H	+	1	0	NDUFA1	118891322	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	3.255000	0.51484	0.339000	0.23719	-0.503000	0.04515	CAC	NDUFA1	-	pirsf_NADH_Ub_cplx-1_asu_su-1		0.393	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA1	HGNC	protein_coding	OTTHUMT00000058080.1	C	NM_004541		119007294	1	no_errors	ENST00000371437	ensembl	human	known	70_37	missense	SNP	0.010	A	A	119007294	C	A	119007294	3	1	153	1	0	0	0	0	1	0	0	0	10283	826	29	3	136	3	NDUFA1	23	119007294	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1224256	119007294	36263266	1423	27397										
GRIA3	2892	genome.wustl.edu	37	chrX	122387269	122387269	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acatcctttgttacgcctagCttccccactgacgcagatgt	7	14	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:122387269C>G	ENST00000371251.1	+	3	436	c.384C>G	c.(382-384)agC>agG	p.S128R	GRIA3_ENST00000541091.1_Missense_Mutation_p.S112R|GRIA3_ENST00000371256.5_Missense_Mutation_p.S128R|GRIA3_ENST00000542149.1_Missense_Mutation_p.S128R|GRIA3_ENST00000264357.5_Missense_Mutation_p.S128R|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	128					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTACGCCTAGCTTCCCCACTG	0.522																																																	0													147	114	125					X																	122387269		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.384C>G	X.37:g.122387269C>G	ENSP00000360297:p.Ser128Arg		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S128R	ENST00000371251.1	37	c.384	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263507	0.59431	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.52	3.76	0.43208	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	L	0.55743	1.74	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83291	-0.0033	10	0.06625	T	0.88	.	10.6669	0.45736	0.0:0.841:0.0:0.159	.	112;128;128	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	R	128;128;128;128;112	ENSP00000264357:S128R;ENSP00000446146:S128R;ENSP00000360302:S128R;ENSP00000360297:S128R;ENSP00000446440:S112R	ENSP00000264357:S128R	S	+	3	2	GRIA3	122214950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.720000	0.38022	0.612000	0.30071	0.513000	0.50165	AGC	GRIA3	-	pfam_ANF_lig-bd_rcpt		0.522	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122387269	1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122387269	C	G	122387269	3	3	153	1	0	0	0	0	1	0	0	0	6789	796	28	4	394	4	GRIA3	23	122387269	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	3379975	122387269	32883291	1424	27398										
GRIA3	2892	genome.wustl.edu	37	chrX	122387377	122387377	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tgggagaagtttgtgtacctCtatgacacagaacgaggtaa	12	6	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:122387377C>T	ENST00000371251.1	+	3	544	c.492C>T	c.(490-492)ctC>ctT	p.L164L	GRIA3_ENST00000541091.1_Silent_p.L148L|GRIA3_ENST00000371256.5_Silent_p.L164L|GRIA3_ENST00000542149.1_Silent_p.L164L|GRIA3_ENST00000264357.5_Silent_p.L164L|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	164					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTGTGTACCTCTATGACACAG	0.468																																																	0													82	72	76					X																	122387377		2203	4300	6503	SO:0001819	synonymous_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.492C>T	X.37:g.122387377C>T			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L164	ENST00000371251.1	37	c.492	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122387377	1	no_errors	ENST00000264357	ensembl	human	known	70_37	silent	SNP	0.993	T	T	122387377	C	T	122387377	2	4	153	1	0	0	0	0	0	0	0	1	6789	900	32	1		1	GRIA3	23	122387377	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	108	122387377	32883183	1425	27399										
ODZ1	10178	genome.wustl.edu	37	chrX	124029919	124029919	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	acaaacaggaactatgctctGatttcattccccttatccac	4	13	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:124029919G>A	ENST00000371130.3	-	2	452	c.389C>T	c.(388-390)tCa>tTa	p.S130L	TENM1_ENST00000422452.2_Missense_Mutation_p.S130L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	130	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTATGCTCTGATTTCATTCC	0.473																																																	0													281	230	247					X																	124029919		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.389C>T	X.37:g.124029919G>A	ENSP00000360171:p.Ser130Leu		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S130L	ENST00000371130.3	37	c.389	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029984	0.93575	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.41400	1.0;1.0	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000013	T	0.63331	0.2502	L	0.60455	1.87	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	D;D;D	0.78314	0.991;0.991;0.991	T	0.65274	-0.6208	10	0.87932	D	0	.	18.7885	0.91964	0.0:0.0:1.0:0.0	.	130;130;130	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	130	ENSP00000360171:S130L;ENSP00000403954:S130L	ENSP00000360171:S130L	S	-	2	0	ODZ1	123857600	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.384000	0.97219	2.469000	0.83416	0.600000	0.82982	TCA	TENM1	-	pfam_Ten_N		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		124029919	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124029919	G	A	124029919	3	1	153	1	0	0	0	0	1	0	0	0	10858	1294	45	1	7933	1	ODZ1	23	124029919	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1642542	124029919	31240641	1426	27400										
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298775	125298775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctccaggaacttctgggcgCggatgtcatagaagagcagg	14	10	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:125298775C>T	ENST00000360028.2	-	1	1159	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R378H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	378								p.R378H(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTTCTGGGCGCGGATGTCATA	0.642																																																	2	Substitution - Missense(2)	endometrium(2)											64	69	67					X																	125298775		2201	4299	6500	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1133G>A	X.37:g.125298775C>T	ENSP00000353128:p.Arg378His		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R378H	ENST00000360028.2	37	c.1133	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533433	0.64972	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64618	-0.11;-0.11	3.94	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36740	N	0.002424	T	0.78972	0.4368	M	0.83774	2.66	0.45439	D	0.998418	D	0.89917	1.0	D	0.85130	0.997	T	0.81767	-0.0782	10	0.59425	D	0.04	.	12.9441	0.58364	0.0:1.0:0.0:0.0	.	378	Q5VW00	DC122_HUMAN	H	378	ENSP00000441489:R378H;ENSP00000353128:R378H	ENSP00000353128:R378H	R	-	2	0	DCAF12L2	125126456	1.000000	0.71417	0.315000	0.25238	0.566000	0.35808	6.257000	0.72480	2.213000	0.71641	0.600000	0.82982	CGC	DCAF12L2	-	superfamily_WD40_repeat_dom		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	C	NM_001013628		125298775	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.996	T	T	125298775	C	T	125298775	3	4	153	1	0	0	0	0	1	0	0	0	4270	768	27	2	262	2	DCAF12L2	23	125298775	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1268856	125298775	29971785	1427	27401										
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299005	125299005	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tctcggcagtagggcagcctGatggacaggagcctggatag	16	9	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:125299005G>A	ENST00000360028.2	-	1	929	c.903C>T	c.(901-903)atC>atT	p.I301I	DCAF12L2_ENST00000538699.1_Silent_p.I301I			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	301										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGGGCAGCCTGATGGACAGGA	0.602																																																	0													96	100	99					X																	125299005		2203	4300	6503	SO:0001819	synonymous_variant	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.903C>T	X.37:g.125299005G>A			B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I301	ENST00000360028.2	37	c.903	CCDS43991.1	X																																																																																			DCAF12L2	-	superfamily_WD40_repeat_dom		0.602	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125299005	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	silent	SNP	0.885	A	A	125299005	G	A	125299005	2	1	153	1	0	0	0	0	0	0	0	1	4270	1280	45	1		1	DCAF12L2	23	125299005	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	230	125299005	29971555	1428	27402										
SLC25A14	9016	genome.wustl.edu	37	chrX	129499593	129499593	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cgaactcgcatgatgaaccaGagggcaatcgtgggacatgt	13	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:129499593G>C	ENST00000218197.5	+	8	1025	c.798G>C	c.(796-798)caG>caC	p.Q266H	SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.Q294H|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.Q263H	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	266					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGATGAACCAGAGGGCAATCG	0.448																																																	0													279	239	253					X																	129499593		2203	4300	6503	SO:0001583	missense	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.798G>C	X.37:g.129499593G>C	ENSP00000218197:p.Gln266His		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q294H	ENST00000218197.5	37	c.882	CCDS14623.1	X	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331899	0.60853	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.80033	-1.33;-1.33;-1.33	4.91	3.15	0.36227	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.87682	2.9	0.80722	D	1	P;P;P	0.46912	0.862;0.862;0.886	P;P;P	0.54174	0.447;0.627;0.744	D	0.85034	0.0919	10	0.72032	D	0.01	-7.4235	7.5003	0.27513	0.279:0.0:0.721:0.0	.	294;263;266	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	H	266;263;294	ENSP00000218197:Q266H;ENSP00000354455:Q263H;ENSP00000342797:Q294H	ENSP00000218197:Q266H	Q	+	3	2	SLC25A14	129327274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.917000	0.63369	0.502000	0.28037	0.594000	0.82650	CAG	SLC25A14	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.448	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	G	NM_022810, NM_003951		129499593	1	no_errors	ENST00000339231	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129499593	G	C	129499593	3	2	153	1	0	0	0	0	1	0	0	0	14506	933	33	1	828	1	SLC25A14	23	129499593	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	4200588	129499593	25770967	1429	27403										
MST4	51765	genome.wustl.edu	37	chrX	131207060	131207060	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agaaaagtattgctgtggctGaagccgcctgtcccggcatc	12	11	0	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:131207060G>A	ENST00000354719.6	+	10	1309	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	MST4_ENST00000481105.1_Missense_Mutation_p.E411K|MST4_ENST00000394334.2_Missense_Mutation_p.E389K|MST4_ENST00000496850.1_Missense_Mutation_p.E327K|MST4_ENST00000394335.2_Missense_Mutation_p.E312K																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TGCTGTGGCTGAAGCCGCCTG	0.358																																																	0													59	65	63					X																	131207060		2192	4288	6480	SO:0001583	missense	51765																														ENST00000354719.6:c.1093G>A	X.37:g.131207060G>A	ENSP00000346755:p.Glu365Lys			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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E389K	ENST00000354719.6	37	c.1165		X	.	.	.	.	.	.	.	.	.	.	g	35	5.552976	0.96501	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	T	0.70307	0.3209	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.996;0.991	T	0.74172	-0.3751	10	0.59425	D	0.04	.	19.0056	0.92849	0.0:0.0:1.0:0.0	.	411;365;327;312;389	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	K	389;411;365;312;327	ENSP00000377867:E389K;ENSP00000418753:E411K;ENSP00000346755:E365K;ENSP00000377868:E312K;ENSP00000419702:E327K	ENSP00000346755:E365K	E	+	1	0	AL109749.1	131034741	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.434000	0.97515	2.437000	0.82529	0.519000	0.50382	GAA	MST4	-	NULL		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	MST4	Uniprot_genename	protein_coding	OTTHUMT00000058308.2	G			131207060	1	no_errors	ENST00000394334	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131207060	G	A	131207060	3	1	153	1	0	0	0	0	1	0	0	0	9915	1291	45	1	1203	1	MST4	23	131207060	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	1707467	131207060	24063500	1430	27404										
RAP2C	57826	genome.wustl.edu	37	chrX	131351213	131351213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtggggtcatatttctcaatGaaagtcccagtgacaaactg	10	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:131351213G>A	ENST00000342983.2	-	2	830	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Silent_p.F28F|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	28					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTCAATGAAAGTCCCAG	0.498																																																	0													160	163	162					X																	131351213		2203	4300	6503	SO:0001819	synonymous_variant	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.84C>T	X.37:g.131351213G>A			B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F28	ENST00000342983.2	37	c.84	CCDS14632.1	X																																																																																			RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.498	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	G	NM_021183		131351213	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131351213	G	A	131351213	2	1	153	1	0	0	0	0	0	0	0	1	13072	1281	45	1		1	RAP2C	23	131351213	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	144153	131351213	23919347	1431	27405										
ZNF449	203523	genome.wustl.edu	37	chrX	134483047	134483047	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	tcccccaggttgatatgcatGacatgctcttggaagaactg	10	10	1	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:134483047G>A	ENST00000339249.4	+	3	507	c.367G>A	c.(367-369)Gac>Aac	p.D123N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	123					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGATATGCATGACATGCTCTT	0.483																																																	0													221	180	194					X																	134483047		2203	4300	6503	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.367G>A	X.37:g.134483047G>A	ENSP00000339585:p.Asp123Asn		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D123N	ENST00000339249.4	37	c.367	CCDS14649.1	X	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111521	0.37242	.	.	ENSG00000173275	ENST00000339249	T	0.05855	3.38	4.61	3.75	0.43078	Transcription regulator SCAN (1);	0.497323	0.15448	N	0.261818	T	0.04182	0.0116	N	0.14661	0.345	0.20196	N	0.999924	B	0.19583	0.037	B	0.15870	0.014	T	0.35251	-0.9796	10	0.51188	T	0.08	.	7.6389	0.28282	0.1147:0.0:0.8853:0.0	.	123	Q6P9G9	ZN449_HUMAN	N	123	ENSP00000339585:D123N	ENSP00000339585:D123N	D	+	1	0	ZNF449	134310713	1.000000	0.71417	0.154000	0.22540	0.996000	0.88848	2.312000	0.43726	1.294000	0.44707	0.600000	0.82982	GAC	ZNF449	-	smart_Tscrpt_reg_SCAN		0.483	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF449	HGNC	protein_coding	OTTHUMT00000058411.1	G	NM_152695		134483047	1	no_errors	ENST00000339249	ensembl	human	known	70_37	missense	SNP	0.141	A	A	134483047	G	A	134483047	3	1	153	1	0	0	0	0	1	0	0	0	17950	1290	45	1	373	1	ZNF449	23	134483047	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	3131834	134483047	20787513	1432	27406										
SAGE1	55511	genome.wustl.edu	37	chrX	134989560	134989560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ttgtcaactgttcaaccagtGattatttatttgacagcaac	6	8	2	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:134989560G>A	ENST00000370709.3	+	8	966	c.966G>A	c.(964-966)gtG>gtA	p.V322V	SAGE1_ENST00000324447.3_Silent_p.V322V|SAGE1_ENST00000535938.1_Silent_p.V322V|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	322						nucleus (GO:0005634)				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)					TTCAACCAGTGATTATTTATT	0.393																																																	0													177	149	158					X																	134989560		2203	4300	6503	SO:0001819	synonymous_variant	55511			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.966G>A	X.37:g.134989560G>A			Q5JNW0	Silent	SNP	NULL	p.V322	ENST00000370709.3	37	c.966	CCDS14652.1	X																																																																																			SAGE1	-	NULL		0.393	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	G	NM_018666		134989560	1	no_errors	ENST00000324447	ensembl	human	known	70_37	silent	SNP	0.000	A	A	134989560	G	A	134989560	2	1	153	1	0	0	0	0	0	0	0	1	13839	1277	45	1		1	SAGE1	23	134989560	Silent	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	506513	134989560	20281000	1433	27407										
SLC9A6	10479	genome.wustl.edu	37	chrX	135067841	135067841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gacgaggagatcgtgtccgaGaagcaagccgaggagagcca	16	9	0	3			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:135067841G>C	ENST00000370698.3	+	1	215	c.180G>C	c.(178-180)gaG>gaC	p.E60D	SLC9A6_ENST00000370695.4_Missense_Mutation_p.E60D|SLC9A6_ENST00000370701.1_Missense_Mutation_p.E8D	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	60					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCGTGTCCGAGAAGCAAGCCG	0.622																																																	0													101	93	96					X																	135067841		2203	4300	6503	SO:0001583	missense	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.180G>C	X.37:g.135067841G>C	ENSP00000359732:p.Glu60Asp		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E60D	ENST00000370698.3	37	c.180	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	g	17.89	3.498755	0.64298	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.58652	0.46;0.32;0.46	4.71	4.71	0.59529	.	0.273612	0.42548	D	0.000697	T	0.69575	0.3126	L	0.57536	1.79	0.50467	D	0.999878	P;P;P	0.49307	0.873;0.922;0.709	P;D;B	0.63877	0.728;0.919;0.217	T	0.65874	-0.6062	10	0.22109	T	0.4	.	15.7741	0.78198	0.0:0.0:1.0:0.0	.	8;60;60	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	D	8;60;60	ENSP00000359735:E8D;ENSP00000359732:E60D;ENSP00000359729:E60D	ENSP00000359729:E60D	E	+	3	2	SLC9A6	134895507	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	4.018000	0.57174	1.913000	0.55393	0.373000	0.22412	GAG	SLC9A6	-	prints_Na/H_exchanger_6		0.622	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	G	NM_006359		135067841	1	no_errors	ENST00000370695	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135067841	G	C	135067841	3	2	153	1	0	0	0	0	1	0	0	0	14748	933	33	1	182	1	SLC9A6	23	135067841	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	78281	135067841	20202719	1434	27408										
FMR1	2332	genome.wustl.edu	37	chrX	147011666	147011666	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gtccatcaatgaagtcacctCaaagcgagcacatatgctga	8	11	3	2			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:147011666C>G	ENST00000370475.4	+	7	661	c.533C>G	c.(532-534)tCa>tGa	p.S178*	FMR1_ENST00000334557.6_Nonsense_Mutation_p.S178*|FMR1_ENST00000218200.8_Nonsense_Mutation_p.S178*|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000370471.3_Nonsense_Mutation_p.S178*|FMR1_ENST00000439526.2_Nonsense_Mutation_p.S178*|FMR1_ENST00000370470.1_Nonsense_Mutation_p.S178*|FMR1_ENST00000370477.1_Nonsense_Mutation_p.S178*	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	178					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTCACCTCAAAGCGAGCA	0.363									Fragile X syndrome																																								0													129	108	115					X																	147011666		2203	4300	6503	SO:0001587	stop_gained	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.533C>G	X.37:g.147011666C>G	ENSP00000359506:p.Ser178*		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.S178*	ENST00000370475.4	37	c.533	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.632615	0.97722	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	.	.	.	4.92	4.92	0.64577	.	0.662303	0.15597	N	0.254089	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-45.6439	10.1933	0.43039	0.0:0.9057:0.0:0.0943	.	.	.	.	X	178	.	ENSP00000218200:S178X	S	+	2	0	FMR1	146819358	0.972000	0.33761	0.981000	0.43875	0.986000	0.74619	3.258000	0.51507	2.168000	0.68352	0.529000	0.55759	TCA	FMR1	-	NULL		0.363	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147011666	1	no_errors	ENST00000370475	ensembl	human	known	70_37	nonsense	SNP	0.018	G	G	147011666	C	G	147011666	4	3	153	1	0	0	0	0	0	1	0	0	5978	838	29	1	559	1	FMR1	23	147011666	Nonsense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	11943825	147011666	8258894	1435	27409										
IDS	3423	genome.wustl.edu	37	chrX	148564588	148564588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	agggaggtacggatcctcttCcaagtcacggaatcgaaaat	11	9	2	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:148564588C>T	ENST00000340855.6	-	9	1551	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	IDS_ENST00000537071.1_Missense_Mutation_p.E51K|IDS_ENST00000541269.1_Missense_Mutation_p.E237K|IDS_ENST00000422081.2_Missense_Mutation_p.E237K	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	448					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGATCCTCTTCCAAGTCACGG	0.532																																																	0													130	108	115					X																	148564588		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1342G>A	X.37:g.148564588C>T	ENSP00000339801:p.Glu448Lys		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E448K	ENST00000340855.6	37	c.1342	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	9.579	1.123106	0.20959	.	.	ENSG00000010404	ENST00000340855;ENST00000537071;ENST00000541269	D;D;D	0.99889	-7.55;-3.22;-7.55	5.23	5.23	0.72850	Alkaline-phosphatase-like, core domain (1);	0.726032	0.13535	N	0.380623	D	0.98982	0.9653	N	0.20401	0.57	0.19775	N	0.999957	B;B	0.17852	0.009;0.024	B;B	0.21708	0.021;0.036	D	0.99978	1.2341	10	0.08837	T	0.75	.	9.1209	0.36786	0.0:0.7744:0.1438:0.0818	.	358;448	B4DGD7;P22304	.;IDS_HUMAN	K	448;51;237	ENSP00000339801:E448K;ENSP00000440324:E51K;ENSP00000441261:E237K	ENSP00000339801:E448K	E	-	1	0	IDS	148372493	0.005000	0.15991	0.078000	0.20375	0.196000	0.23810	0.453000	0.21811	2.181000	0.69327	0.422000	0.28245	GAA	IDS	-	superfamily_Alkaline_phosphatase_core		0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148564588	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	0.142	T	T	148564588	C	T	148564588	3	4	153	1	0	0	0	0	1	0	0	0	7523	864	30	1	314	1	IDS	23	148564588	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1552922	148564588	6705972	1436	27410										
BGN	633	genome.wustl.edu	37	chrX	152772340	152772340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gaccacaacaaaatccaggcCatcgaactggaggacctgct	9	13	0	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:152772340C>T	ENST00000331595.4	+	6	915	c.729C>T	c.(727-729)gcC>gcT	p.A243A	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	243					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAATCCAGGCCATCGAACTGG	0.602																																																	0													172	151	158					X																	152772340		2203	4300	6503	SO:0001819	synonymous_variant	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.729C>T	X.37:g.152772340C>T			D3DWU3|P13247	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.A243	ENST00000331595.4	37	c.729	CCDS14721.1	X																																																																																			BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan		0.602	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	C	NM_001711		152772340	1	no_errors	ENST00000331595	ensembl	human	known	70_37	silent	SNP	0.050	T	T	152772340	C	T	152772340	2	4	153	1	0	0	0	0	0	0	0	1	1419	581	21	4		4	BGN	23	152772340	Silent	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	4207752	152772340	2498220	1437	27411										
ABCD1	215	genome.wustl.edu	37	chrX	152991176	152991176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cttcgtcaacagtgccatccGttacctggagggccaactgg	11	13	1	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:152991176G>A	ENST00000218104.3	+	1	854	c.455G>A	c.(454-456)cGt>cAt	p.R152H	BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	152	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.		R -> C (in ALD; ADO-type). {ECO:0000269|PubMed:15643618}.|R -> L (in ALD).|R -> P (in ALD).|R -> S (in ALD). {ECO:0000269|PubMed:10737980}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCCATCCGTTACCTGGAG	0.652																																																	0			GRCh37	CM950032	ABCD1	M							52	44	46					X																	152991176		2202	4300	6502	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.455G>A	X.37:g.152991176G>A	ENSP00000218104:p.Arg152His		Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.R152H	ENST00000218104.3	37	c.455	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390811	0.82902	.	.	ENSG00000101986	ENST00000218104	D	0.99667	-6.34	5.57	5.57	0.84162	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97823	1.0258	10	0.87932	D	0	-30.3982	17.2499	0.87039	0.0:0.0:1.0:0.0	.	152	P33897	ABCD1_HUMAN	H	152	ENSP00000218104:R152H	ENSP00000218104:R152H	R	+	2	0	ABCD1	152644370	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.463000	0.97652	2.339000	0.79563	0.529000	0.55759	CGT	ABCD1	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	G	NM_000033		152991176	1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152991176	G	A	152991176	3	1	153	1	0	0	0	0	1	0	0	0	60	1145	40	2	457	2	ABCD1	23	152991176	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	218836	152991176	2279384	1438	27412										
PDZD4	57595	genome.wustl.edu	37	chrX	153069804	153069804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gccgccaggtcgtagaggctCtcctcctccagcagccaggc	12	17	1	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153069804C>G	ENST00000164640.4	-	8	1505	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	PDZD4_ENST00000393758.2_Missense_Mutation_p.E363D|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.E329D	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	438						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGAGGCTCTCCTCCTCCA	0.622																																																	0													37	34	35					X																	153069804		2201	4294	6495	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1314G>C	X.37:g.153069804C>G	ENSP00000164640:p.Glu438Asp		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E438D	ENST00000164640.4	37	c.1314	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	C	4.348	0.064032	0.08388	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04862	3.54;3.54;3.75	4.97	4.09	0.47781	.	0.226724	0.44688	D	0.000429	T	0.08670	0.0215	L	0.48642	1.525	0.30454	N	0.775007	B;P;P;D;B	0.54207	0.093;0.761;0.932;0.965;0.048	B;B;B;P;B	0.47573	0.028;0.366;0.396;0.55;0.025	T	0.07790	-1.0754	10	0.29301	T	0.29	-23.436	9.1542	0.36983	0.0:0.8146:0.0:0.1854	.	329;444;438;363;342	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	D	438;363;342;329	ENSP00000164640:E438D;ENSP00000377355:E363D;ENSP00000442033:E329D	ENSP00000164640:E438D	E	-	3	2	PDZD4	152722998	0.986000	0.35501	0.959000	0.39883	0.959000	0.62525	0.523000	0.22925	0.864000	0.35578	0.436000	0.28706	GAG	PDZD4	-	NULL		0.622	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	C	NM_032512		153069804	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	missense	SNP	0.783	G	G	153069804	C	G	153069804	3	3	153	1	0	0	0	0	1	0	0	0	11727	912	32	1	999	1	PDZD4	23	153069804	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	78628	153069804	2200756	1439	27413										
ARHGAP4	393	genome.wustl.edu	37	chrX	153186238	153186238	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	ggcattcacgctctccatgtGatatgcctggtacgtcttct	9	12	4	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153186238G>C	ENST00000350060.5	-	5	564	c.523C>G	c.(523-525)Cac>Gac	p.H175D	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.H175D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.H152D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.H154D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	175					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|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)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCCATGTGATATGCCTGG	0.677																																																	0													63	58	59					X																	153186238		2203	4300	6503	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.523C>G	X.37:g.153186238G>C	ENSP00000203786:p.His175Asp		Q14144|Q86UY3	Nonsense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.S184*	ENST00000350060.5	37	c.551	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984533|2.984533	0.53934|0.53934	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091|ENST00000418750	T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.484661|.	0.17601|.	N|.	0.168434|.	T|.	0.61677|.	0.2366|.	L|L	0.43598|0.43598	1.365|1.365	0.41513|0.41513	D|D	0.988354|0.988354	D;D|.	0.60160|.	0.987;0.978|.	P;P|.	0.57776|.	0.827;0.649|.	T|.	0.58901|.	-0.7554|.	10|.	0.72032|0.30854	D|T	0.01|0.27	.|.	16.5027|16.5027	0.84261|0.84261	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175;175|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|X	175;175;154;152;152;152|22	ENSP00000359045:H175D;ENSP00000203786:H175D;ENSP00000359033:H154D;ENSP00000444169:H152D;ENSP00000398259:H152D;ENSP00000413782:H152D|.	ENSP00000203786:H175D|ENSP00000385042:S184X	H|S	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839432|152839432	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.060000|0.060000	0.15804|0.15804	2.862000|2.862000	0.48388|0.48388	2.355000|2.355000	0.79922|0.79922	0.529000|0.529000	0.55759|0.55759	CAC|TCA	ARHGAP4	-	NULL		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	G	NM_001666		153186238	-1	no_errors	ENST00000404127	ensembl	human	known	70_37	nonsense	SNP	0.911	C	C	153186238	G	C	153186238	3	2	153	1	0	0	0	0	1	0	0	0	885	1290	45	1	2513	1	ARHGAP4	23	153186238	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	116434	153186238	2084322	1440	27414										
FLNA	2316	genome.wustl.edu	37	chrX	153581031	153581031	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	cctcgcctgtcaccttcacaGagaaggggctgcctgcagga	12	14	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153581031G>T	ENST00000369850.3	-	40	6628	c.6392C>A	c.(6391-6393)tCt>tAt	p.S2131Y	FLNA_ENST00000422373.1_Missense_Mutation_p.S2123Y|FLNA_ENST00000369856.3_Missense_Mutation_p.S264Y|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.S2123Y|FLNA_ENST00000344736.4_Missense_Mutation_p.S2091Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2131					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTCACAGAGAAGGGGCT	0.637																																																	0													37	38	37					X																	153581031		1980	4138	6118	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6392C>A	X.37:g.153581031G>T	ENSP00000358866:p.Ser2131Tyr		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2131Y	ENST00000369850.3	37	c.6392	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229774	0.58777	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.070853	0.56097	D	0.000025	D	0.93625	0.7964	L	0.49778	1.585	0.52501	D	0.999956	D;D;B;B	0.61697	0.986;0.99;0.142;0.142	P;P;B;B	0.57846	0.789;0.828;0.034;0.034	D	0.94235	0.7480	10	0.87932	D	0	.	15.8523	0.78943	0.0:0.1319:0.8681:0.0	.	264;2123;2131;2131	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	Y	2123;2123;2131;264;2091	ENSP00000353467:S2123Y;ENSP00000416926:S2123Y;ENSP00000358866:S2131Y;ENSP00000358872:S264Y;ENSP00000358863:S2091Y	ENSP00000358863:S2091Y	S	-	2	0	FLNA	153234225	1.000000	0.71417	0.976000	0.42696	0.788000	0.44548	6.737000	0.74816	2.372000	0.80975	0.513000	0.50165	TCT	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153581031	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153581031	G	T	153581031	3	4	153	1	0	0	0	0	1	0	0	0	5951	942	33	3	1587	3	FLNA	23	153581031	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	394793	153581031	1689529	1441	27415										
FLNA	2316	genome.wustl.edu	37	chrX	153582057	153582057	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gttgtcagtgcagctgatttCtgctttggacgggccctcaa	12	10	3	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153582057C>G	ENST00000369850.3	-	36	5961	c.5725G>C	c.(5725-5727)Gaa>Caa	p.E1909Q	FLNA_ENST00000422373.1_Missense_Mutation_p.E1901Q|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.E1901Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E1869Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1909					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCTGATTTCTGCTTTGGAC	0.582											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													50	50	50					X																	153582057		2194	4297	6491	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5725G>C	X.37:g.153582057C>G	ENSP00000358866:p.Glu1909Gln	1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1909Q	ENST00000369850.3	37	c.5725	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439931	0.83885	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.3	5.3	0.74995	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.136231	0.46442	D	0.000300	D	0.95639	0.8582	M	0.75777	2.31	0.58432	D	0.999999	P;B	0.38020	0.615;0.012	P;B	0.55824	0.785;0.173	D	0.95953	0.8956	10	0.87932	D	0	.	18.0888	0.89468	0.0:1.0:0.0:0.0	.	1901;1909	P21333-2;P21333	.;FLNA_HUMAN	Q	1901;1882;1901;1909;1869	ENSP00000353467:E1901Q;ENSP00000416926:E1901Q;ENSP00000358866:E1909Q;ENSP00000358863:E1869Q	ENSP00000358863:E1869Q	E	-	1	0	FLNA	153235251	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	7.779000	0.85648	2.207000	0.71202	0.436000	0.28706	GAA	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.582	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153582057	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153582057	C	G	153582057	3	3	153	1	0	0	0	0	1	0	0	0	5951	922	32	1	2270	1	FLNA	23	153582057	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	1026	153582057	1688503	1442	27416										
F8	2157	genome.wustl.edu	37	chrX	154221309	154221309	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	aggtaaggcacagtgggtcaGaggccattggaccattctct	13	9	2	1			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:154221309G>C	ENST00000360256.4	-	4	703	c.503C>G	c.(502-504)tCt>tGt	p.S168C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	168	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGTGGGTCAGAGGCCATTGG	0.463																																																	0													271	233	246					X																	154221309		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.503C>G	X.37:g.154221309G>C	ENSP00000353393:p.Ser168Cys		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S168C	ENST00000360256.4	37	c.503	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788670	0.49997	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99080	-5.21;-5.21;-5.4	4.74	3.72	0.42706	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.377369	0.31709	N	0.007186	D	0.98651	0.9548	M	0.65498	2.005	0.28971	N	0.889211	D;D	0.69078	0.997;0.994	P;P	0.62813	0.871;0.907	D	0.95595	0.8658	10	0.66056	D	0.02	-16.2932	7.9299	0.29897	0.0:0.0:0.6831:0.3169	.	133;168	B1B0G8;P00451	.;FA8_HUMAN	C	168;133;162	ENSP00000353393:S168C;ENSP00000409446:S133C;ENSP00000389153:S162C	ENSP00000353393:S168C	S	-	2	0	F8	153874503	0.000000	0.05858	0.998000	0.56505	0.615000	0.37417	0.146000	0.16180	2.085000	0.62840	0.523000	0.50628	TCT	F8	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154221309	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.994	C	C	154221309	G	C	154221309	3	2	153	1	0	0	0	0	1	0	0	0	5362	942	33	1	6672	1	F8	23	154221309	Missense_Mutation	SNP	G	TCGA-IR-A3LK-01A-12D-A20U-09	639252	154221309	1049251	1443	27417										
BRCC3	79184	genome.wustl.edu	37	chrX	154306951	154306951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.616515045486354	881	0	4.35238201394051	5.01060096710705	3.79289590374895	0.0198483594129287	0.0722582975359812	679	gctggtatcattcccatcctCatataactgtttggccttca	6	12	3	0			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:154306951C>T	ENST00000369462.1	+	5	401	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.H126Y|BRCC3_ENST00000340647.4_Missense_Mutation_p.H127Y|BRCC3_ENST00000369459.2_Missense_Mutation_p.H126Y|BRCC3_ENST00000330045.7_Missense_Mutation_p.H126Y	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	126	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCCATCCTCATATAACTGT	0.408																																																	0													102	85	90					X																	154306951		1892	4110	6002	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.376C>T	X.37:g.154306951C>T	ENSP00000358474:p.His126Tyr		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.H126Y	ENST00000369462.1	37	c.376	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348848	0.82132	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.82323	2.585	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.68039	0.756;0.955	T	0.77411	-0.2598	10	0.62326	D	0.03	-12.4474	14.9062	0.70721	0.0:1.0:0.0:0.0	.	126;126	P46736-2;P46736	.;BRCC3_HUMAN	Y	127;126;126;126;102;126;126;68	ENSP00000344103:H127Y;ENSP00000328641:H126Y;ENSP00000358471:H126Y;ENSP00000358474:H126Y;ENSP00000413170:H102Y;ENSP00000381998:H126Y;ENSP00000381988:H68Y	ENSP00000328641:H126Y	H	+	1	0	BRCC3	153960145	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	7.145000	0.77365	2.324000	0.78689	0.415000	0.27848	CAT	BRCC3	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.408	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	C	NM_024332		154306951	1	no_errors	ENST00000399042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154306951	C	T	154306951	3	4	153	1	0	0	0	0	1	0	0	0	1503	826	29	1	394	1	BRCC3	23	154306951	Missense_Mutation	SNP	C	TCGA-IR-A3LK-01A-12D-A20U-09	85642	154306951	963609	1444	27418										
UBE2J2	118424	genome.wustl.edu	37	chr1	1203290	1203290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggcacagatgtaaggcaccGggtctttcttaatgcgaagg	13	9	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:1203290G>A	ENST00000349431.6	-	2	302	c.83C>T	c.(82-84)cCg>cTg	p.P28L	UBE2J2_ENST00000360466.2_Missense_Mutation_p.P28L|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P28L|UBE2J2_ENST00000400929.2_Intron	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	28					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GTAAGGCACCGGGTCTTTCTT	0.582																																																	0													223	241	235					1																	1203290		2203	4300	6503	SO:0001583	missense	118424			AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	19268	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.83C>T	1.37:g.1203290G>A	ENSP00000305826:p.Pro28Leu		A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P28L	ENST00000349431.6	37	c.83	CCDS14.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484807	0.63962	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.72	4.8	0.61643	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.047167	0.85682	N	0.000000	T	0.73976	0.3656	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.934;1.0	T	0.82782	-0.0287	10	0.87932	D	0	.	15.4989	0.75680	0.0:0.1391:0.8609:0.0	.	28;28	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	L	28	ENSP00000305826:P28L;ENSP00000353653:P28L;ENSP00000383719:P28L;ENSP00000393301:P28L;ENSP00000401898:P28L;ENSP00000424342:P28L	ENSP00000305826:P28L	P	-	2	0	UBE2J2	1193153	1.000000	0.71417	0.879000	0.34478	0.051000	0.14879	8.860000	0.92272	1.407000	0.46875	0.655000	0.94253	CCG	UBE2J2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.582	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	UBE2J2	HGNC	protein_coding	OTTHUMT00000005430.1	G	NM_058167		1203290	-1	no_errors	ENST00000400930	ensembl	human	known	70_37	missense	SNP	0.999	A	A	1203290	G	A	1203290	3	1	154	1	0	0	0	0	1	0	0	0	16892	1116	39	2	772	2	UBE2J2	1	1203290	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		1203290	248047331	1	27419										
ATAD3B	83858	genome.wustl.edu	37	chr1	1425767	1425767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcctggtgagactgcattttGacaactgtgttcttaagccg	11	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:1425767G>A	ENST00000308647.7	+	14	1584	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	490						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTGCATTTTGACAACTGTGT	0.592																																																	0													81	68	72					1																	1425767		2203	4299	6502	SO:0001583	missense	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1468G>A	1.37:g.1425767G>A	ENSP00000311766:p.Asp490Asn		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.D490N	ENST00000308647.7	37	c.1468	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.335793	0.24253	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.94687	-3.49	2.07	2.07	0.26955	.	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	L	0.58669	1.825	0.80722	D	1	P;P	0.39181	0.663;0.533	B;B	0.37943	0.261;0.134	D	0.87911	0.2697	10	0.25106	T	0.35	.	11.3902	0.49809	0.0:0.0:1.0:0.0	.	444;490	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	N	293;490	ENSP00000311766:D490N	ENSP00000311766:D490N	D	+	1	0	ATAD3B	1415630	1.000000	0.71417	0.955000	0.39395	0.007000	0.05969	7.515000	0.81761	1.139000	0.42245	0.205000	0.17691	GAC	ATAD3B	-	NULL		0.592	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	G	NM_031921		1425767	1	no_errors	ENST00000308647	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1425767	G	A	1425767	3	1	154	1	0	0	0	0	1	0	0	0	1075	1290	45	1	1522	1	ATAD3B	1	1425767	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	222477	1425767	247824854	2	27420										
PRDM16	63976	genome.wustl.edu	37	chr1	3334454	3334454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcagccatgaaggcggactcGggcagctccctgcagcccct	13	16	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:3334454G>A	ENST00000270722.5	+	11	2803	c.2754G>A	c.(2752-2754)tcG>tcA	p.S918S	PRDM16_ENST00000378398.3_Silent_p.S918S|PRDM16_ENST00000378391.2_Silent_p.S918S|PRDM16_ENST00000442529.2_Silent_p.S917S|PRDM16_ENST00000441472.2_Silent_p.S917S|PRDM16_ENST00000514189.1_Silent_p.S918S|PRDM16_ENST00000511072.1_Silent_p.S919S|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	918	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGCGGACTCGGGCAGCTCCC	0.597			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													90	101	97					1																	3334454		2023	4184	6207	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2754G>A	1.37:g.3334454G>A			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S918	ENST00000270722.5	37	c.2754	CCDS41236.2	1																																																																																			PRDM16	-	NULL		0.597	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3334454	1	no_errors	ENST00000270722	ensembl	human	known	70_37	silent	SNP	0.012	A	A	3334454	G	A	3334454	2	1	154	1	0	0	0	0	0	0	0	1	12484	1103	39	2		2	PRDM16	1	3334454	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1908687	3334454	245916167	3	27421										
RBP7	116362	genome.wustl.edu	37	chr1	10075889	10075889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acagacattccagagagcctGatccacatccagcagcagag	9	13	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:10075889G>A	ENST00000294435.7	+	4	447	c.404G>A	c.(403-405)tGa>tAa	p.*135*		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	0						cytoplasm (GO:0005737)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CAGAGAGCCTGATCCACATCC	0.478																																																	0													123	105	111					1																	10075889		2203	4300	6503	SO:0001819	synonymous_variant	116362			AF399927	CCDS109.1	1p36.22	2013-03-01			ENSG00000162444	ENSG00000162444		"Fatty acid binding protein family"	30316	protein-coding gene	gene with protein product		608604				12177003	Standard	NM_052960		Approved	CRBPIV	uc001aqq.3	Q96R05	OTTHUMG00000001798	ENST00000294435.7:c.404G>A	1.37:g.10075889G>A			B2R517|Q5SWJ4	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.*182	ENST00000294435.7	37	c.545	CCDS109.1	1																																																																																			RBP7	-	NULL		0.478	RBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP7	HGNC	protein_coding	OTTHUMT00000005027.2	G	NM_052960		10075889	1	no_errors	ENST00000315901	ensembl	human	known	70_37	silent	SNP	0.994	A	A	10075889	G	A	10075889	2	1	154	1	0	0	0	0	0	0	0	1	13190	1285	45	1		1	RBP7	1	10075889	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6741435	10075889	239174732	4	27422										
MTOR	2475	genome.wustl.edu	37	chr1	11168296	11168296	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgcttgtttgatgagcagctCaacttgcgttggaacatcca	10	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:11168296C>T	ENST00000361445.4	-	57	7652	c.7576G>A	c.(7576-7578)Gag>Aag	p.E2526K	MTOR_ENST00000376838.1_Missense_Mutation_p.E731K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2526	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATGAGCAGCTCAACTTGCGTT	0.458																																																	0													137	117	124					1																	11168296		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7576G>A	1.37:g.11168296C>T	ENSP00000354558:p.Glu2526Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2526K	ENST00000361445.4	37	c.7576	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974552	0.92919	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77620	-1.11;-1.11	5.38	5.38	0.77491	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.70595	2.14	0.80722	D	1	P	0.39424	0.673	B	0.42738	0.396	D	0.83471	0.0059	10	0.72032	D	0.01	-19.0985	18.4765	0.90795	0.0:1.0:0.0:0.0	.	2526	P42345	MTOR_HUMAN	K	2526;731	ENSP00000354558:E2526K;ENSP00000366034:E731K	ENSP00000354558:E2526K	E	-	1	0	MTOR	11090883	1.000000	0.71417	0.953000	0.39169	0.983000	0.72400	7.201000	0.77847	2.684000	0.91462	0.561000	0.74099	GAG	MTOR	-	pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom		0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11168296	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11168296	C	T	11168296	3	4	154	1	0	0	0	0	1	0	0	0	9977	835	29	1	81	1	MTOR	1	11168296	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1092407	11168296	238082325	5	27423										
KIAA0090	23065	genome.wustl.edu	37	chr1	19549250	19549250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cagggagctgaaggcggtggCgttgtattgctcagtgccct	16	9	1	1	rs371524055	byFrequency	TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:19549250C>T	ENST00000477853.1	-	20	2497	c.2455G>A	c.(2455-2457)Gcc>Acc	p.A819T	EMC1_ENST00000375199.3_Missense_Mutation_p.A818T|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.A797T|EMC1_ENST00000480380.1_5'Flank	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	819						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AAGGCGGTGGCGTTGTATTGC	0.602													C|||	4	0.000798722	0.003	0	5008	,	,		18529	0		0	False		,,,				2504	0																0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121	107	111		2455	6	1	1		111	0,8600		0,0,4300	no	missense	KIAA0090	NM_015047.1	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	819/994	19549250	1,13005	2203	4300	6503	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2455G>A	1.37:g.19549250C>T	ENSP00000420608:p.Ala819Thr		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.A819T	ENST00000477853.1	37	c.2455	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.93|14.93	2.680976|2.680976	0.47886|0.47886	2.27E-4|2.27E-4	0.0|0.0	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208;ENST00000486405|ENST00000375197	T;T;T|.	0.24723|.	1.84;1.84;1.84|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Domain of unknown function DUF1620 (1);|.	0.085825|.	0.85682|.	D|.	0.000000|.	T|T	0.51856|0.51856	0.1699|0.1699	N|N	0.26092|0.26092	0.79|0.79	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.39520|.	0.334;0.101;0.625;0.676|.	B;B;B;B|.	0.32289|.	0.063;0.063;0.088;0.143|.	T|T	0.45160|0.45160	-0.9280|-0.9280	10|5	0.21014|.	T|.	0.42|.	-26.1445|-26.1445	12.3448|12.3448	0.55114|0.55114	0.0:0.9228:0.0:0.0772|0.0:0.9228:0.0:0.0772	.|.	797;818;818;819|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	T|H	819;818;797;64|552	ENSP00000420608:A819T;ENSP00000364345:A818T;ENSP00000364354:A797T|.	ENSP00000364345:A818T|.	A|R	-|-	1|2	0|0	KIAA0090|KIAA0090	19421837|19421837	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.732000|0.732000	0.41865|0.41865	5.405000|5.405000	0.66351|0.66351	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GCC|CGC	EMC1	-	pfam_DUF1620		0.602	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	C	NM_015047		19549250	-1	no_errors	ENST00000477853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19549250	C	T	19549250	3	4	154	1	0	0	0	0	1	0	0	0	8173	768	27	2	542	2	KIAA0090	1	19549250	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	8380954	19549250	229701371	6	27424										
HSPG2	3339	genome.wustl.edu	37	chr1	22166489	22166489	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcacacataagtgcccgcatCtgatggtttagctgatgaaa	10	9	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:22166489C>T	ENST00000374695.3	-	72	9614	c.9535G>A	c.(9535-9537)Gat>Aat	p.D3179N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3179	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGCCCGCATCTGATGGTTTA	0.587																																																	0													164	156	159					1																	22166489		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9535G>A	1.37:g.22166489C>T	ENSP00000363827:p.Asp3179Asn		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.D3179N	ENST00000374695.3	37	c.9535	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691805	0.68271	.	.	ENSG00000142798	ENST00000374695	T	0.80994	-1.44	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000962	D	0.91043	0.7182	M	0.89414	3.03	0.58432	D	0.999994	D;D	0.67145	0.987;0.996	D;D	0.71656	0.974;0.964	D	0.92335	0.5877	10	0.72032	D	0.01	.	17.0144	0.86414	0.0:1.0:0.0:0.0	.	1119;3179	Q59EG0;P98160	.;PGBM_HUMAN	N	3179	ENSP00000363827:D3179N	ENSP00000363827:D3179N	D	-	1	0	HSPG2	22039076	1.000000	0.71417	0.989000	0.46669	0.083000	0.17756	5.046000	0.64226	2.619000	0.88677	0.462000	0.41574	GAT	HSPG2	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.587	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22166489	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22166489	C	T	22166489	3	4	154	1	0	0	0	0	1	0	0	0	7450	913	32	1	3744	1	HSPG2	1	22166489	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2617239	22166489	227084132	7	27425										
C1orf135	79000	genome.wustl.edu	37	chr1	26161667	26161667	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gctctagtgttgtgggcaatGacccgctggccttgagaatc	13	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:26161667G>A	ENST00000374298.3	-	3	945	c.891C>T	c.(889-891)gtC>gtT	p.V297V	AUNIP_ENST00000538789.1_Silent_p.V297V|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	297	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											TGTGGGCAATGACCCGCTGGC	0.478																																																	0													136	144	141					1																	26161667		2203	4300	6503	SO:0001819	synonymous_variant	79000				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.891C>T	1.37:g.26161667G>A			C9EI59|Q53F70	Silent	SNP	NULL	p.V297	ENST00000374298.3	37	c.891	CCDS266.1	1																																																																																			AUNIP	-	NULL		0.478	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	G	NM_024037		26161667	-1	no_errors	ENST00000538789	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26161667	G	A	26161667	2	1	154	1	0	0	0	0	0	0	0	1	2004	1277	45	1		1	C1orf135	1	26161667	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3995178	26161667	223088954	8	27426										
CATSPER4	378807	genome.wustl.edu	37	chr1	26526400	26526400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agaagagggaatatgcaatgGagattgggggtgccatctac	15	5	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:26526400G>C	ENST00000456354.2	+	7	905	c.838G>C	c.(838-840)Gag>Cag	p.E280Q		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	280					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATATGCAATGGAGATTGGGGG	0.512																																																	0													109	82	91					1																	26526400		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.838G>C	1.37:g.26526400G>C	ENSP00000390423:p.Glu280Gln		A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.E280Q	ENST00000456354.2	37	c.838	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868140	0.51588	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98567	-5.0;-5.0	4.95	3.97	0.46021	Ion transport (1);	0.116764	0.38492	N	0.001662	D	0.96620	0.8897	N	0.17082	0.46	0.31688	N	0.642308	D;P	0.57899	0.981;0.946	P;P	0.60345	0.873;0.586	D	0.94821	0.7987	10	0.42905	T	0.14	-31.5328	10.7535	0.46223	0.0:0.1928:0.8072:0.0	.	280;264	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	Q	280	ENSP00000341006:E280Q;ENSP00000390423:E280Q	ENSP00000341006:E280Q	E	+	1	0	CATSPER4	26398987	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.482000	0.35486	2.462000	0.83206	0.467000	0.42956	GAG	CATSPER4	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.512	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	G	NM_198137		26526400	1	no_errors	ENST00000456354	ensembl	human	known	70_37	missense	SNP	0.998	C	C	26526400	G	C	26526400	3	2	154	1	0	0	0	0	1	0	0	0	2695	1175	41	1	864	1	CATSPER4	1	26526400	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	364733	26526400	222724221	9	27427										
ATPIF1	93974	genome.wustl.edu	37	chr1	28562944	28562944	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcggaaagagagagcaggctGaagaggaacgatatttccgg	15	6	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:28562944G>A	ENST00000335514.5	+	2	211	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ATPIF1_ENST00000465645.1_Missense_Mutation_p.E54K|ATPIF1_ENST00000497986.1_Missense_Mutation_p.E54K|ATPIF1_ENST00000468425.2_Missense_Mutation_p.E54K	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	54					angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCAGGCTGAAGAGGAACG	0.607																																																	0													66	70	69					1																	28562944		2203	4300	6503	SO:0001583	missense	93974			AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"Mitochondrial respiratory chain complex / Complex V"	871	protein-coding gene	gene with protein product	"ATPase inhibitor protein", "ATP synthase inhibitor protein"	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.160G>A	1.37:g.28562944G>A	ENSP00000335203:p.Glu54Lys		Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	pfam_ATPase_inhibitor_IATP_mt	p.E54K	ENST00000335514.5	37	c.160	CCDS319.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.322814	0.97471	.	.	ENSG00000130770	ENST00000497986;ENST00000335514;ENST00000468425;ENST00000465645	D	0.92249	-3.0	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	L	0.53617	1.68	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.87578	0.974;0.998	D	0.94883	0.8041	10	0.66056	D	0.02	-29.0523	17.8559	0.88762	0.0:0.0:1.0:0.0	.	54;54	Q9UII2;Q9UII2-2	ATIF1_HUMAN;.	K	54	ENSP00000335203:E54K	ENSP00000335203:E54K	E	+	1	0	ATPIF1	28435531	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	5.448000	0.66612	2.894000	0.99253	0.655000	0.94253	GAA	ATPIF1	-	pfam_ATPase_inhibitor_IATP_mt		0.607	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPIF1	HGNC	protein_coding	OTTHUMT00000009841.1	G	NM_016311		28562944	1	no_errors	ENST00000335514	ensembl	human	known	70_37	missense	SNP	0.998	A	A	28562944	G	A	28562944	3	1	154	1	0	0	0	0	1	0	0	0	1204	1291	45	1	166	1	ATPIF1	1	28562944	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2036544	28562944	220687677	10	27428										
TMEM54	113452	genome.wustl.edu	37	chr1	33360939	33360939	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttttcccccaccagggcctCagctccagcagctggtgggt	11	16	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:33360939C>G	ENST00000373463.3	-	5	680	c.561G>C	c.(559-561)ctG>ctC	p.L187L	TMEM54_ENST00000329151.5_Silent_p.L134L|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	187						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGGCCTCAGCTCCAGCA	0.642																																																	0													58	46	50					1																	33360939		2203	4300	6503	SO:0001819	synonymous_variant	113452				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.561G>C	1.37:g.33360939C>G			Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	pfam_Beta-casein-like	p.L187	ENST00000373463.3	37	c.561	CCDS371.1	1																																																																																			TMEM54	-	pfam_Beta-casein-like		0.642	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM54	HGNC	protein_coding	OTTHUMT00000011474.1	C	NM_033504		33360939	-1	no_errors	ENST00000373463	ensembl	human	known	70_37	silent	SNP	1.000	G	G	33360939	C	G	33360939	2	3	154	1	0	0	0	0	0	0	0	1	16210	813	29	1		1	TMEM54	1	33360939	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4797995	33360939	215889682	11	27429										
THRAP3	9967	genome.wustl.edu	37	chr1	36757080	36757080	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttccagcacatacaatcagcTcagtctcagcgtagcccctc	6	16	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:36757080T>G	ENST00000354618.5	+	6	2075	c.1851T>G	c.(1849-1851)gcT>gcG	p.A617A	THRAP3_ENST00000469141.2_Silent_p.A617A|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	617	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TACAATCAGCTCAGTCTCAGC	0.488			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													123	111	115					1																	36757080		2203	4300	6503	SO:0001819	synonymous_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1851T>G	1.37:g.36757080T>G			D3DPS5|Q5VTK6	Silent	SNP	NULL	p.A617	ENST00000354618.5	37	c.1851	CCDS405.1	1																																																																																			THRAP3	-	NULL		0.488	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	T	NM_005119		36757080	1	no_errors	ENST00000354618	ensembl	human	known	70_37	silent	SNP	1.000	G	G	36757080	T	G	36757080	2	3	154	1	0	0	0	0	0	0	0	1	15904	1538	54	5		5	THRAP3	1	36757080	Silent	SNP	T	TCGA-IR-A3LL-01A-11D-A20U-09	3396141	36757080	212493541	12	27430										
WDR65	149465	genome.wustl.edu	37	chr1	43638464	43638464	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agacgctgcatgtttttggtCttcgatcccacgtggccaac	10	12	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:43638464C>G	ENST00000372492.4	+	2	364	c.40C>G	c.(40-42)Ctt>Gtt	p.L14V	EBNA1BP2_ENST00000236051.2_5'Flank|WDR65_ENST00000528956.1_Missense_Mutation_p.L14V|EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_5'Flank	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		14										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTTTTTGGTCTTCGATCCCA	0.478																																																	0													145	129	134					1																	43638464		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.40C>G	1.37:g.43638464C>G	ENSP00000361570:p.Leu14Val		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L14V	ENST00000372492.4	37	c.40		1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997829	0.54147	.	.	ENSG00000243710	ENST00000372492;ENST00000528956;ENST00000529956	T;T;T	0.37915	4.9;1.17;4.9	5.27	2.37	0.29283	.	0.070557	0.64402	D	0.000018	T	0.28034	0.0691	L	0.48362	1.52	0.37137	D	0.901528	P	0.42827	0.791	B	0.40101	0.319	T	0.13124	-1.0521	10	0.23891	T	0.37	.	8.6227	0.33870	0.0:0.6297:0.0:0.3703	.	14	Q96MR6-2	.	V	14	ENSP00000361570:L14V;ENSP00000435310:L14V;ENSP00000434133:L14V	ENSP00000361570:L14V	L	+	1	0	WDR65	43411051	0.991000	0.36638	0.907000	0.35723	0.863000	0.49368	1.689000	0.37700	0.221000	0.20879	0.655000	0.94253	CTT	WDR65	-	superfamily_WD40_repeat_dom		0.478	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	C			43638464	1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	0.982	G	G	43638464	C	G	43638464	3	3	154	1	0	0	0	0	1	0	0	0	17347	913	32	1	42	1	WDR65	1	43638464	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6881384	43638464	205612157	13	27431										
RNF220	55182	genome.wustl.edu	37	chr1	44877992	44877992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctttgcctctatgtaccatCggcaaggtggggtgccaggc	13	12	1	0	rs539612817		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:44877992C>T	ENST00000355387.2	+	2	673	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	RNF220_ENST00000372247.2_Missense_Mutation_p.R75W|RNF220_ENST00000361799.2_Missense_Mutation_p.R75W			Q5VTB9	RN220_HUMAN	ring finger protein 220	75					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TATGTACCATCGGCAAGGTGG	0.517													C|||	1	0.000199681	0	0	5008	,	,		21550	0		0.001	False		,,,				2504	0																0													329	318	322					1																	44877992		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.223C>T	1.37:g.44877992C>T	ENSP00000347548:p.Arg75Trp		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R75W	ENST00000355387.2	37	c.223	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484243	0.63962	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	3.97	0.46021	.	0.065779	0.64402	D	0.000010	T	0.66694	0.2815	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.72272	-0.4342	9	0.87932	D	0	.	16.7121	0.85388	0.2468:0.7532:0.0:0.0	.	75	Q5VTB9	RN220_HUMAN	W	75	.	ENSP00000347548:R75W	R	+	1	2	RNF220	44650579	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	4.624000	0.61254	1.530000	0.49136	0.655000	0.94253	CGG	RNF220	-	NULL		0.517	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	C	NM_018150		44877992	1	no_errors	ENST00000355387	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44877992	C	T	44877992	3	4	154	1	0	0	0	0	1	0	0	0	13513	875	31	1	225	1	RNF220	1	44877992	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1239528	44877992	204372629	14	27432										
MUTYH	4595	genome.wustl.edu	37	chr1	45799177	45799177	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttcagctacgtctctgaataGatggtatgaggagacagagg	13	6	2	5			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:45799177G>C	ENST00000372098.3	-	3	380	c.247C>G	c.(247-249)Cta>Gta	p.L83V	MUTYH_ENST00000372115.3_Missense_Mutation_p.L72V|MUTYH_ENST00000355498.2_Missense_Mutation_p.L58V|MUTYH_ENST00000372110.3_Missense_Mutation_p.L73V|MUTYH_ENST00000456914.2_Missense_Mutation_p.L58V|MUTYH_ENST00000354383.6_Missense_Mutation_p.L59V|MUTYH_ENST00000450313.1_Missense_Mutation_p.L86V|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.L72V|MUTYH_ENST00000372100.5_Missense_Mutation_p.L69V|MUTYH_ENST00000372104.1_Missense_Mutation_p.L58V|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.L69V			Q9UIF7	MUTYH_HUMAN	mutY homolog	83					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCTCTGAATAGATGGTATGAG	0.587			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													79	71	74					1																	45799177		2203	4300	6503	SO:0001583	missense	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.247C>G	1.37:g.45799177G>C	ENSP00000361170:p.Leu83Val		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.L86V	ENST00000372098.3	37	c.256	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385770	0.25031	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000435155;ENST00000528013;ENST00000483127	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48201	3.27;3.28;3.27;3.28;3.27;3.28;3.27;3.26;3.28;3.28;1.98;0.96;0.82	5.86	4.95	0.65309	.	0.837135	0.10836	N	0.628796	T	0.45935	0.1367	M	0.62723	1.935	0.19575	N	0.999962	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.34775	-0.9815	10	0.25106	T	0.35	-3.4582	11.3423	0.49539	0.0:0.1367:0.721:0.1423	.	86;73;83;72;59	E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;MUTYH_HUMAN;.;.	V	58;69;58;59;58;83;73;72;86;69;69;72;64	ENSP00000361176:L58V;ENSP00000409718:L69V;ENSP00000407590:L58V;ENSP00000346354:L59V;ENSP00000347685:L58V;ENSP00000361170:L83V;ENSP00000361182:L73V;ENSP00000361187:L72V;ENSP00000408176:L86V;ENSP00000361172:L69V;ENSP00000403655:L69V;ENSP00000433130:L72V;ENSP00000436469:L64V	ENSP00000346354:L59V	L	-	1	2	MUTYH	45571764	0.885000	0.30320	0.622000	0.29159	0.776000	0.43924	1.826000	0.39092	1.489000	0.48450	-0.127000	0.14921	CTA	MUTYH	-	NULL		0.587	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	G	NM_012222		45799177	-1	no_errors	ENST00000450313	ensembl	human	known	70_37	missense	SNP	0.345	C	C	45799177	G	C	45799177	3	2	154	1	0	0	0	0	1	0	0	0	10016	933	33	1	1449	1	MUTYH	1	45799177	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	921185	45799177	203451444	15	27433										
EPS15	2060	genome.wustl.edu	37	chr1	51869122	51869122	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtctattattgtcgagttcaGaacaaactttttcagtaaca	6	7	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:51869122G>C	ENST00000371733.3	-	17	1856	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C	EPS15_ENST00000396122.4_Missense_Mutation_p.S264C|EPS15_ENST00000371730.2_Missense_Mutation_p.S453C|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	587					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GTCGAGTTCAGAACAAACTTT	0.368			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											111	109	110					1																	51869122		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1760C>G	1.37:g.51869122G>C	ENSP00000360798:p.Ser587Cys		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.S587C	ENST00000371733.3	37	c.1760	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229570	0.39399	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.26223	1.75;1.89;2.69	4.6	4.6	0.57074	.	0.558279	0.13577	N	0.377646	T	0.19208	0.0461	N	0.08118	0	0.36276	D	0.855453	P;P;P	0.46277	0.875;0.786;0.504	B;B;B	0.43754	0.43;0.224;0.318	T	0.32587	-0.9901	10	0.56958	D	0.05	.	17.2132	0.86936	0.0:0.0:1.0:0.0	.	453;587;273	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	C	453;587;264	ENSP00000360795:S453C;ENSP00000360798:S587C;ENSP00000379428:S264C	ENSP00000360795:S453C	S	-	2	0	EPS15	51641710	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	1.407000	0.34657	2.847000	0.97988	0.591000	0.81541	TCT	EPS15	-	NULL		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	G	NM_001981		51869122	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51869122	G	C	51869122	3	2	154	1	0	0	0	0	1	0	0	0	5204	942	33	1	966	1	EPS15	1	51869122	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6069945	51869122	197381499	16	27434										
C1orf163	65260	genome.wustl.edu	37	chr1	53163902	53163902	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagccgctcaccgtccgggtCcttctcgtggtagcagtggt	14	13	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:53163902C>G	ENST00000371538.3	-	1	136	c.97G>C	c.(97-99)Gac>Cac	p.D33H	SELRC1_ENST00000486918.1_5'Flank	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CCGTCCGGGTCCTTCTCGTGG	0.627																																																	0													72	70	71					1																	53163902		2203	4300	6503	SO:0001583	missense	65260																														ENST00000371538.3:c.97G>C	1.37:g.53163902C>G	ENSP00000360593:p.Asp33His			Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.D33H	ENST00000371538.3	37	c.97	CCDS570.1	1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619084	0.66787	.	.	ENSG00000162377	ENST00000371538	T	0.52983	0.64	5.61	4.69	0.59074	Tetratricopeptide-like helical (1);	0.092635	0.64402	D	0.000001	T	0.46795	0.1411	M	0.66939	2.045	0.58432	D	0.999997	B	0.29805	0.257	B	0.35353	0.201	T	0.37979	-0.9682	10	0.23891	T	0.37	-9.2922	10.4276	0.44387	0.0:0.7952:0.1332:0.0716	.	33	Q96BR5	SELR1_HUMAN	H	33	ENSP00000360593:D33H	ENSP00000360593:D33H	D	-	1	0	SELRC1	52936490	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.117000	0.41939	1.510000	0.48803	0.561000	0.74099	GAC	SELRC1	-	NULL		0.627	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELRC1	HGNC	protein_coding	OTTHUMT00000023462.1	C			53163902	-1	no_errors	ENST00000371538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53163902	C	G	53163902	3	3	154	1	0	0	0	0	1	0	0	0	2016	855	30	1	610	1	C1orf163	1	53163902	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1294780	53163902	196086719	17	27435										
C1orf163	65260	genome.wustl.edu	37	chr1	53163968	53163968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caaaaaggacttgacctgctCctcatcctggaagtccacca	7	14	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:53163968C>G	ENST00000371538.3	-	1	70	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	SELRC1_ENST00000486918.1_5'Flank	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TTGACCTGCTCCTCATCCTGG	0.677																																																	0													91	88	89					1																	53163968		2203	4300	6503	SO:0001583	missense	65260																														ENST00000371538.3:c.31G>C	1.37:g.53163968C>G	ENSP00000360593:p.Glu11Gln			Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.E11Q	ENST00000371538.3	37	c.31	CCDS570.1	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343292	0.41498	.	.	ENSG00000162377	ENST00000371538	T	0.49432	0.78	5.93	5.93	0.95920	.	0.198329	0.53938	D	0.000058	T	0.46795	0.1411	M	0.61703	1.905	0.47123	D	0.999323	P	0.35507	0.506	B	0.26864	0.074	T	0.45673	-0.9245	10	0.44086	T	0.13	0.3021	19.9388	0.97151	0.0:1.0:0.0:0.0	.	11	Q96BR5	SELR1_HUMAN	Q	11	ENSP00000360593:E11Q	ENSP00000360593:E11Q	E	-	1	0	SELRC1	52936556	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	2.488000	0.45276	2.815000	0.96918	0.561000	0.74099	GAG	SELRC1	-	NULL		0.677	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELRC1	HGNC	protein_coding	OTTHUMT00000023462.1	C			53163968	-1	no_errors	ENST00000371538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53163968	C	G	53163968	3	3	154	1	0	0	0	0	1	0	0	0	2016	864	30	1	676	1	C1orf163	1	53163968	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	66	53163968	196086653	18	27436										
ANKRD13C	81573	genome.wustl.edu	37	chr1	70819990	70819990	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttctggtaaaggtaccgccGagggcagccgccgcttcctc	12	15	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:70819990G>A	ENST00000370944.4	-	1	415	c.102C>T	c.(100-102)ctC>ctT	p.L34L	HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000370940.5_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.L34L|HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000359875.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	34					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGTACCGCCGAGGGCAGCCG	0.607																																																	0													36	44	41					1																	70819990		2203	4299	6502	SO:0001819	synonymous_variant	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.102C>T	1.37:g.70819990G>A			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L34	ENST00000370944.4	37	c.102	CCDS648.2	1																																																																																			ANKRD13C	-	NULL		0.607	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	G	NM_030816		70819990	-1	no_errors	ENST00000370944	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70819990	G	A	70819990	2	1	154	1	0	0	0	0	0	0	0	1	643	1045	37	1		1	ANKRD13C	1	70819990	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	17656022	70819990	178430631	19	27437										
ZRANB2	9406	genome.wustl.edu	37	chr1	71544392	71544392	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caaagtttacatttccacatCtaaaaacagattaaaaagca	3	8	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:71544392C>T	ENST00000370920.3	-	2	358		c.e2-1		ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2-AS2_ENST00000455406.1_RNA|ZRANB2_ENST00000254821.6_Splice_Site	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ATTTCCACATCTAAAAACAGA	0.269																																																	0													44	46	46					1																	71544392		2175	4289	6464	SO:0001630	splice_region_variant	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.57-1G>A	1.37:g.71544392C>T			D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Splice_Site	SNP	-	e2-1	ENST00000370920.3	37	c.57-1	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201547	0.58234	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.323	0.90244	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZRANB2	71316980	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	7.128000	0.77217	2.701000	0.92244	0.563000	0.77884	.	ZRANB2	-	-		0.269	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	C	NM_203350	Intron	71544392	-1	no_errors	ENST00000370920	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	71544392	C	T	71544392	5	4	154	1	0	0	0	0	0	0	1	0	18253	927	32	1	1010	1	ZRANB2	1	71544392	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	724402	71544392	177706229	20	27438										
GCLM	2730	genome.wustl.edu	37	chr1	94367192	94367192	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atttatcttttctactgcatGagatacagtgcattccaaga	6	8	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:94367192G>A	ENST00000370238.3	-	3	472	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	76					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	TCTACTGCATGAGATACAGTG	0.289																																																	0													77	79	78					1																	94367192		2202	4300	6502	SO:0001583	missense	2730			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.226C>T	1.37:g.94367192G>A	ENSP00000359258:p.His76Tyr		A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.H76Y	ENST00000370238.3	37	c.226	CCDS746.1	1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134276	0.56828	.	.	ENSG00000023909	ENST00000370238	T	0.23552	1.9	6.16	6.16	0.99307	NADP-dependent oxidoreductase domain (1);	0.145145	0.64402	D	0.000005	T	0.11750	0.0286	N	0.08118	0	0.43890	D	0.996518	P	0.36483	0.555	B	0.38655	0.278	T	0.14117	-1.0484	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	76	P48507	GSH0_HUMAN	Y	76	ENSP00000359258:H76Y	ENSP00000359258:H76Y	H	-	1	0	GCLM	94139780	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.506000	0.60428	2.937000	0.99478	0.650000	0.86243	CAT	GCLM	-	pfam_NADP_OxRdtase_dom		0.289	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLM	HGNC	protein_coding	OTTHUMT00000029169.1	G	NM_002061		94367192	-1	no_errors	ENST00000370238	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94367192	G	A	94367192	3	1	154	1	0	0	0	0	1	0	0	0	6315	1290	45	1	618	1	GCLM	1	94367192	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	22822800	94367192	154883429	21	27439										
SLC44A3	126969	genome.wustl.edu	37	chr1	95293118	95293118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcaaaggtacgcagctcaacCgcatggccctctgtgtatcc	9	14	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:95293118C>T	ENST00000271227.6	+	4	436	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	SLC44A3_ENST00000529450.1_Intron|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R76C|SLC44A3_ENST00000532427.1_Intron|SLC44A3_ENST00000530397.1_Intron|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R64C	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	112					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCAGCTCAACCGCATGGCCCT	0.483																																																	0													163	151	155					1																	95293118		2203	4300	6503	SO:0001583	missense	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.334C>T	1.37:g.95293118C>T	ENSP00000271227:p.Arg112Cys		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.R112C	ENST00000271227.6	37	c.334	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845237	0.32606	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000467909;ENST00000422520	T;T;T;T	0.78481	-1.18;-1.18;2.71;-1.18	5.67	0.55	0.17219	.	0.401325	0.24176	N	0.040854	T	0.40862	0.1134	N	0.08118	0	0.19945	N	0.999941	D;D	0.54772	0.958;0.968	P;B	0.46543	0.52;0.249	T	0.47032	-0.9148	10	0.87932	D	0	-0.5379	5.4325	0.16460	0.1335:0.1335:0.0:0.7331	.	76;112	Q8N4M1-3;Q8N4M1	.;CTL3_HUMAN	C	76;112;64;64	ENSP00000389143:R76C;ENSP00000271227:R112C;ENSP00000432789:R64C;ENSP00000410832:R64C	ENSP00000271227:R112C	R	+	1	0	SLC44A3	95065706	0.805000	0.28982	0.007000	0.13788	0.070000	0.16714	1.219000	0.32479	-0.079000	0.12707	0.655000	0.94253	CGC	SLC44A3	-	NULL		0.483	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	C	NM_152369		95293118	1	no_errors	ENST00000271227	ensembl	human	known	70_37	missense	SNP	0.103	T	T	95293118	C	T	95293118	3	4	154	1	0	0	0	0	1	0	0	0	14667	652	23	2	348	2	SLC44A3	1	95293118	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	925926	95293118	153957503	22	27440										
CLCC1	23155	genome.wustl.edu	37	chr1	109482749	109482749	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggtcatccttataggtccatGaacttctaaaccattctgtt	6	10	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:109482749G>T	ENST00000369971.2	-	8	941	c.812C>A	c.(811-813)tCa>tAa	p.S271*	CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000356970.2_Nonsense_Mutation_p.S271*|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Nonsense_Mutation_p.S221*|CLCC1_ENST00000302500.4_Nonsense_Mutation_p.S150*|CLCC1_ENST00000369969.2_Nonsense_Mutation_p.S150*|CLCC1_ENST00000415331.1_Nonsense_Mutation_p.S221*|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369968.2_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	271						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ATAGGTCCATGAACTTCTAAA	0.358																																																	0													66	61	63					1																	109482749		2203	4300	6503	SO:0001587	stop_gained	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.812C>A	1.37:g.109482749G>T	ENSP00000358988:p.Ser271*		O94861|Q8WYP8|Q8WYP9|Q9BU25	Nonsense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.S271*	ENST00000369971.2	37	c.812	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.570223	0.97671	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369970;ENST00000302500	.	.	.	5.52	3.63	0.41609	.	0.677816	0.15021	N	0.285005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4223	9.6383	0.39824	0.0674:0.0:0.681:0.2515	.	.	.	.	X	271;271;221;150;221;150	.	ENSP00000306552:S150X	S	-	2	0	CLCC1	109284272	0.990000	0.36364	0.997000	0.53966	0.969000	0.65631	3.063000	0.49978	0.678000	0.31325	0.585000	0.79938	TCA	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.358	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	G	NM_015127		109482749	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	nonsense	SNP	0.964	T	T	109482749	G	T	109482749	4	4	154	1	0	0	0	0	0	1	0	0	3465	1294	45	3	859	3	CLCC1	1	109482749	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	14189631	109482749	139767872	23	27441										
CD58	965	genome.wustl.edu	37	chr1	117087104	117087104	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gaattcagaattttccagttCtgcaactttatccttttgtt	5	8	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:117087104C>G	ENST00000369489.5	-	2	259	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	CD58_ENST00000369487.3_Missense_Mutation_p.E65Q|CD58_ENST00000457047.2_Missense_Mutation_p.E65Q	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	65	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TTTTCCAGTTCTGCAACTTTA	0.348																																																	0													79	79	79					1																	117087104		2203	4300	6503	SO:0001583	missense	965			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.193G>C	1.37:g.117087104C>G	ENSP00000358501:p.Glu65Gln		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	NULL	p.E65Q	ENST00000369489.5	37	c.193	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250670	0.39797	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	3.86	0.715	0.18186	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.939745	0.08870	N	0.881707	T	0.15652	0.0377	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	T	0.07868	-1.0750	10	0.41790	T	0.15	-7.1961	2.313	0.04191	0.1982:0.4975:0.1926:0.1117	.	65;65;65	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	Q	65;65;37;65	ENSP00000358501:E65Q;ENSP00000409080:E65Q;ENSP00000433648:E37Q;ENSP00000358499:E65Q	ENSP00000358499:E65Q	E	-	1	0	CD58	116888627	0.001000	0.12720	0.000000	0.03702	0.062000	0.15995	0.114000	0.15520	0.038000	0.15604	0.561000	0.74099	GAA	CD58	-	NULL		0.348	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD58	HGNC	protein_coding	OTTHUMT00000059036.1	C	NM_001779		117087104	-1	no_errors	ENST00000369489	ensembl	human	known	70_37	missense	SNP	0.000	G	G	117087104	C	G	117087104	3	3	154	1	0	0	0	0	1	0	0	0	3030	922	32	1	583	1	CD58	1	117087104	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	7604355	117087104	132163517	24	27442										
TTF2	8458	genome.wustl.edu	37	chr1	117617603	117617603	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcaaggtacttgacaagaatCaagaaccagctctctggaaa	8	9	3	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:117617603C>G	ENST00000369466.4	+	5	441	c.397C>G	c.(397-399)Caa>Gaa	p.Q133E		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	133					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGACAAGAATCAAGAACCAGC	0.403																																																	0													72	74	73					1																	117617603		2203	4300	6503	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.397C>G	1.37:g.117617603C>G	ENSP00000358478:p.Gln133Glu		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q133E	ENST00000369466.4	37	c.397	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996132	0.35226	.	.	ENSG00000116830	ENST00000369466	D	0.86956	-2.19	5.59	3.66	0.41972	.	0.000000	0.38058	N	0.001833	D	0.83751	0.5322	M	0.66939	2.045	0.23765	N	0.996905	P;D	0.54207	0.622;0.965	B;P	0.53266	0.197;0.722	T	0.76545	-0.2920	10	0.39692	T	0.17	-8.0519	11.3993	0.49860	0.329:0.671:0.0:0.0	.	133;133	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	E	133	ENSP00000358478:Q133E	ENSP00000358478:Q133E	Q	+	1	0	TTF2	117419126	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.915000	0.39976	0.779000	0.33543	0.557000	0.71058	CAA	TTF2	-	NULL		0.403	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	C			117617603	1	no_errors	ENST00000369466	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117617603	C	G	117617603	3	3	154	1	0	0	0	0	1	0	0	0	16750	827	29	1	415	1	TTF2	1	117617603	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	530499	117617603	131633018	25	27443										
TRIM45	80263	genome.wustl.edu	37	chr1	117663434	117663434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggtcacacaccaggccctgGccttccccacgtaggctctc	9	18	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:117663434G>A	ENST00000256649.4	-	1	916	c.390C>T	c.(388-390)ggC>ggT	p.G130G	TRIM45_ENST00000369464.3_Silent_p.G130G|TRIM45_ENST00000369461.3_Silent_p.G73G	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	130					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CCAGGCCCTGGCCTTCCCCAC	0.572																																																	0													93	79	84					1																	117663434		2203	4300	6503	SO:0001819	synonymous_variant	80263				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.390C>T	1.37:g.117663434G>A			Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.G130	ENST00000256649.4	37	c.390	CCDS893.1	1																																																																																			TRIM45	-	smart_Znf_B-box,pfscan_Znf_B-box		0.572	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1	G	NM_025188		117663434	-1	no_errors	ENST00000256649	ensembl	human	known	70_37	silent	SNP	1.000	A	A	117663434	G	A	117663434	2	1	154	1	0	0	0	0	0	0	0	1	16551	1190	42	4		4	TRIM45	1	117663434	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	45831	117663434	131587187	26	27444										
SPAG17	200162	genome.wustl.edu	37	chr1	118523962	118523962	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttcttatctgcagaaatctCtggttttggaagactaggca	9	8	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:118523962C>G	ENST00000336338.5	-	43	6000	c.5935G>C	c.(5935-5937)Gag>Cag	p.E1979Q	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1979						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAGAAATCTCTGGTTTTGGA	0.348																																																	0													117	116	117					1																	118523962		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5935G>C	1.37:g.118523962C>G	ENSP00000337804:p.Glu1979Gln		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E1979Q	ENST00000336338.5	37	c.5935	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225710	0.22542	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19250	2.16	4.85	2.97	0.34412	.	1.519990	0.04040	N	0.302998	T	0.06188	0.0160	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32508	-0.9904	10	0.20046	T	0.44	.	6.5845	0.22612	0.0:0.7211:0.1815:0.0975	.	1979	Q6Q759	SPG17_HUMAN	Q	1979;459	ENSP00000337804:E1979Q	ENSP00000337804:E1979Q	E	-	1	0	SPAG17	118325485	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.746000	0.26275	0.636000	0.30508	-0.172000	0.13284	GAG	SPAG17	-	NULL		0.348	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118523962	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.002	G	G	118523962	C	G	118523962	3	3	154	1	0	0	0	0	1	0	0	0	15009	922	32	1	760	1	SPAG17	1	118523962	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	860528	118523962	130726659	27	27445										
NOTCH2	4853	genome.wustl.edu	37	chr1	120462868	120462868	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgacctgggccacggacattCacatctaacacatccacctc	6	16	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:120462868C>G	ENST00000256646.2	-	30	5682	c.5463G>C	c.(5461-5463)gtG>gtC	p.V1821V	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1821					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACGGACATTCACATCTAACA	0.587			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													107	78	88					1																	120462868		2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5463G>C	1.37:g.120462868C>G			Q5T3X7|Q99734|Q9H240	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.V1821	ENST00000256646.2	37	c.5463	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom		0.587	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	C	NM_024408		120462868	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	silent	SNP	1.000	G	G	120462868	C	G	120462868	2	3	154	1	0	0	0	0	0	0	0	1	10572	813	29	1		1	NOTCH2	1	120462868	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1938906	120462868	128787753	28	27446										
NBPF10	100132406	genome.wustl.edu	37	chr1	145296382	145296382	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ataaagtcctagttcactctCaggaacgagagctgacccag	9	11	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:145296382C>G	ENST00000342960.5	+	3	339	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	102						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGTTCACTCTCAGGAACGAGA	0.478																																																	0																																										SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.304C>G	1.37:g.145296382C>G	ENSP00000345684:p.Gln102Glu		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.Q102E	ENST00000342960.5	37	c.304	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	6.168	0.399221	0.11696	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.05139	3.49	0.837	0.837	0.18896	.	.	.	.	.	T	0.06735	0.0172	M	0.85542	2.76	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	7	0.46703	T	0.11	.	5.1485	0.14998	0.0:1.0:0.0:0.0	.	.	.	.	E	102;27;102	ENSP00000345684:Q102E	ENSP00000345684:Q102E	Q	+	1	0	NBPF10	144007739	0.037000	0.19845	0.002000	0.10522	0.004000	0.04260	1.365000	0.34182	0.777000	0.33496	0.121000	0.15741	CAG	NBPF10	-	NULL		0.478	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		C	NM_001039703		145296382	1	no_errors	ENST00000342960	ensembl	human	known	70_37	missense	SNP	0.002	G	G	145296382	C	G	145296382	3	3	154	1	0	0	0	0	1	0	0	0	10216	827	29	1	314	1	NBPF10	1	145296382	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	24833514	145296382	103954239	29	27447										
APH1A	51107	genome.wustl.edu	37	chr1	150238976	150238976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggagggaccctccagctgtGatgaaggcccagagccccat	13	14	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:150238976G>A	ENST00000369109.3	-	6	878	c.690C>T	c.(688-690)atC>atT	p.I230I	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Silent_p.I230I|APH1A_ENST00000414276.2_Silent_p.I160I|APH1A_ENST00000461320.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	230					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.I230M(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCAGCTGTGATGAAGGCCC	0.567																																																	1	Substitution - Missense(1)	urinary_tract(1)											60	66	64					1																	150238976		2031	4181	6212	SO:0001819	synonymous_variant	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.690C>T	1.37:g.150238976G>A			B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	pfam_Aph-1	p.I230	ENST00000369109.3	37	c.690	CCDS41390.1	1																																																																																			APH1A	-	pfam_Aph-1		0.567	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150238976	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150238976	G	A	150238976	2	1	154	1	0	0	0	0	0	0	0	1	771	1280	45	1		1	APH1A	1	150238976	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4942594	150238976	99011645	30	27448										
SETDB1	9869	genome.wustl.edu	37	chr1	150913850	150913850	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gaaagtcagctcaagatgttCagaagttcatggatgctgtc	11	7	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:150913850C>G	ENST00000271640.5	+	5	683	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Missense_Mutation_p.Q165E|SETDB1_ENST00000368963.1_Missense_Mutation_p.Q165E|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q165E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	165					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAAGATGTTCAGAAGTTCAT	0.433																																																	0													105	89	94					1																	150913850		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.493C>G	1.37:g.150913850C>G	ENSP00000271640:p.Gln165Glu		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.Q165E	ENST00000271640.5	37	c.493	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976201	0.74360	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193	D;T;T;D;T	0.88896	-2.44;0.77;1.32;-2.44;1.06	5.26	5.26	0.73747	.	0.054085	0.85682	D	0.000000	D	0.88149	0.6359	L	0.27053	0.805	0.48975	D	0.999736	D;D;P;P;P	0.61697	0.982;0.99;0.859;0.75;0.635	D;D;P;B;B	0.73380	0.952;0.98;0.554;0.325;0.173	D	0.86877	0.2039	9	.	.	.	.	16.108	0.81237	0.0:0.8666:0.1334:0.0	.	165;165;165;165;165	E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.;.;.;.;SETB1_HUMAN	E	165	ENSP00000271640:Q165E;ENSP00000357958:Q165E;ENSP00000436148:Q165E;ENSP00000357965:Q165E;ENSP00000432348:Q165E	.	Q	+	1	0	SETDB1	149180474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.157000	0.58144	2.738000	0.93877	0.655000	0.94253	CAG	SETDB1	-	NULL		0.433	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150913850	1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150913850	C	G	150913850	3	3	154	1	0	0	0	0	1	0	0	0	14168	827	29	1	507	1	SETDB1	1	150913850	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	674874	150913850	98336771	31	27449										
POGZ	23126	genome.wustl.edu	37	chr1	151403234	151403234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacaggcctcaatactggttGagtaaccattgtgcccagac	9	11	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:151403234G>A	ENST00000271715.2	-	4	681	c.367C>T	c.(367-369)Caa>Taa	p.Q123*	POGZ_ENST00000368863.2_Intron|POGZ_ENST00000361398.3_Nonsense_Mutation_p.Q70*|POGZ_ENST00000531094.1_Nonsense_Mutation_p.Q70*|POGZ_ENST00000409503.1_Nonsense_Mutation_p.Q123*|POGZ_ENST00000392723.1_Nonsense_Mutation_p.Q70*|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000491586.1_Nonsense_Mutation_p.Q70*	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	123					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATACTGGTTGAGTAACCATT	0.507																																																	0													136	134	135					1																	151403234		2203	4300	6503	SO:0001587	stop_gained	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.367C>T	1.37:g.151403234G>A	ENSP00000271715:p.Gln123*		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Nonsense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.Q123*	ENST00000271715.2	37	c.367	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739719	0.69304	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847;ENST00000533461;ENST00000533351;ENST00000450842	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.3466	17.5046	0.87741	0.0:0.0:1.0:0.0	.	.	.	.	X	70;123;70;123;70;70;123;123;123;70	.	ENSP00000271715:Q123X	Q	-	1	0	POGZ	149669858	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.169000	0.71913	2.708000	0.92522	0.585000	0.79938	CAA	POGZ	-	NULL		0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	G	NM_207171		151403234	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151403234	G	A	151403234	4	1	154	1	0	0	0	0	0	1	0	0	12210	1299	45	1	3943	1	POGZ	1	151403234	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	489384	151403234	97847387	32	27450										
CGN	57530	genome.wustl.edu	37	chr1	151491314	151491314	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tccctgagaacccctactctCaggtcaagggatttcctgcc	8	15	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:151491314C>T	ENST00000271636.7	+	2	452	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	101	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCTACTCTCAGGTCAAGGG	0.587																																																	0													33	36	35					1																	151491314		2203	4300	6503	SO:0001587	stop_gained	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.319C>T	1.37:g.151491314C>T	ENSP00000271636:p.Gln107*		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	pfam_Myosin_tail	p.Q107*	ENST00000271636.7	37	c.319	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265407	0.80358	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	.	.	.	4.84	3.93	0.45458	.	1.250170	0.05220	N	0.508348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.7461	8.3491	0.32292	0.0:0.7516:0.1607:0.0877	.	.	.	.	X	107	.	ENSP00000271636:Q107X	Q	+	1	0	CGN	149757938	0.032000	0.19561	0.953000	0.39169	0.938000	0.57974	0.947000	0.29082	2.691000	0.91804	0.655000	0.94253	CAG	CGN	-	NULL		0.587	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	C	NM_020770		151491314	1	no_errors	ENST00000271636	ensembl	human	known	70_37	nonsense	SNP	0.238	T	T	151491314	C	T	151491314	4	4	154	1	0	0	0	0	0	1	0	0	3308	827	29	1	321	1	CGN	1	151491314	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	88080	151491314	97759307	33	27451										
FLG2	388698	genome.wustl.edu	37	chr1	152327738	152327738	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atgttggccatagctggactGatgtgatctagactcatgct	11	8	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:152327738G>A	ENST00000388718.5	-	3	2596	c.2524C>T	c.(2524-2526)Cag>Tag	p.Q842*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	842	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGCTGGACTGATGTGATCTA	0.512																																																	0													343	327	332					1																	152327738		2203	4300	6503	SO:0001587	stop_gained	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2524C>T	1.37:g.152327738G>A	ENSP00000373370:p.Gln842*		Q9H4U1	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q842*	ENST00000388718.5	37	c.2524	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.782678	0.96937	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.78	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	10.2718	0.43487	0.0:0.0:0.8022:0.1977	.	.	.	.	X	842	.	ENSP00000373370:Q842X	Q	-	1	0	FLG2	150594362	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.128000	0.15810	1.675000	0.50919	0.586000	0.80456	CAG	FLG2	-	NULL		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152327738	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	nonsense	SNP	0.056	A	A	152327738	G	A	152327738	4	1	154	1	0	0	0	0	0	1	0	0	5941	1299	45	1	4655	1	FLG2	1	152327738	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	836424	152327738	96922883	34	27452										
GON4L	54856	genome.wustl.edu	37	chr1	155744901	155744901	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acagggttggaacagggtctGaaacttggggttgtactgat	15	5	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:155744901G>C	ENST00000368331.1	-	17	2290	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E	GON4L_ENST00000361040.5_Missense_Mutation_p.Q748E|GON4L_ENST00000271883.5_Missense_Mutation_p.Q748E|GON4L_ENST00000437809.1_Missense_Mutation_p.Q748E|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	748					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AACAGGGTCTGAAACTTGGGG	0.458																																																	0													75	76	75					1																	155744901		2203	4292	6495	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2242C>G	1.37:g.155744901G>C	ENSP00000357315:p.Gln748Glu		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q748E	ENST00000368331.1	37	c.2242		1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534946	0.64972	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.11495	2.96;2.96;2.96;2.77	4.57	4.57	0.56435	.	0.304031	0.32015	N	0.006719	T	0.17238	0.0414	L	0.45581	1.43	0.35925	D	0.832072	B;D;D;D;D	0.64830	0.01;0.961;0.994;0.989;0.994	B;P;D;P;D	0.73708	0.029;0.721;0.981;0.84;0.923	T	0.00870	-1.1533	10	0.52906	T	0.07	.	15.3124	0.74045	0.0:0.0:1.0:0.0	.	528;748;748;748;748	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	E	748;748;748;748;748;198	ENSP00000396117:Q748E;ENSP00000357315:Q748E;ENSP00000271883:Q748E;ENSP00000354322:Q748E	ENSP00000271883:Q748E	Q	-	1	0	GON4L	154011525	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.615000	0.61190	2.373000	0.80994	0.484000	0.47621	CAG	GON4L	-	NULL		0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155744901	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155744901	G	C	155744901	3	2	154	1	0	0	0	0	1	0	0	0	6591	1299	45	1	4661	1	GON4L	1	155744901	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3417163	155744901	93505720	35	27453										
GON4L	54856	genome.wustl.edu	37	chr1	155744925	155744925	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttggggttgtactgatggtGaagggcgatggagctttgag	18	4	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:155744925G>A	ENST00000368331.1	-	17	2266	c.2218C>T	c.(2218-2220)Cac>Tac	p.H740Y	GON4L_ENST00000361040.5_Missense_Mutation_p.H740Y|GON4L_ENST00000271883.5_Missense_Mutation_p.H740Y|GON4L_ENST00000437809.1_Missense_Mutation_p.H740Y|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	740					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACTGATGGTGAAGGGCGATG	0.453																																																	0													79	81	80					1																	155744925		2203	4297	6500	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2218C>T	1.37:g.155744925G>A	ENSP00000357315:p.His740Tyr		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.H740Y	ENST00000368331.1	37	c.2218		1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504306	0.64410	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.12984	2.82;2.82;2.82;2.63	4.57	4.57	0.56435	.	0.197271	0.38548	N	0.001655	T	0.19248	0.0462	M	0.63843	1.955	0.26077	N	0.981144	P;D;D;D;D	0.71674	0.622;0.975;0.998;0.981;0.989	P;P;D;P;P	0.65010	0.506;0.743;0.931;0.656;0.814	T	0.01352	-1.1377	10	0.54805	T	0.06	.	12.1269	0.53922	0.0:0.1728:0.8272:0.0	.	520;740;740;740;740	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	Y	740;740;740;740;740;190	ENSP00000396117:H740Y;ENSP00000357315:H740Y;ENSP00000271883:H740Y;ENSP00000354322:H740Y	ENSP00000271883:H740Y	H	-	1	0	GON4L	154011549	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	3.504000	0.53347	2.373000	0.80994	0.484000	0.47621	CAC	GON4L	-	NULL		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155744925	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.994	A	A	155744925	G	A	155744925	3	1	154	1	0	0	0	0	1	0	0	0	6591	1290	45	1	4685	1	GON4L	1	155744925	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	24	155744925	93505696	36	27454										
OR10X1	128367	genome.wustl.edu	37	chr1	158549459	158549459	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaggagagtgcactaaggaaGagatacataggggtgtggag	17	3	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:158549459G>C	ENST00000368150.1	-	1	230	c.231C>G	c.(229-231)ctC>ctG	p.L77L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CACTAAGGAAGAGATACATAG	0.493																																																	0													124	116	119					1																	158549459		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.231C>G	1.37:g.158549459G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L77	ENST00000368150.1	37	c.231	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549459	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.832	C	C	158549459	G	C	158549459	2	2	154	1	0	0	0	0	0	0	0	1	10946	929	33	1		1	OR10X1	1	158549459	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2804534	158549459	90701162	37	27455										
ASTN1	460	genome.wustl.edu	37	chr1	176853535	176853535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcttgacggaggaggtaatCtacaatctgcaccccgattg	10	11	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:176853535C>G	ENST00000367654.3	-	19	3401	c.3190G>C	c.(3190-3192)Gat>Cat	p.D1064H	ASTN1_ENST00000361833.2_Missense_Mutation_p.D1056H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D1056H|ASTN1_ENST00000424564.2_Missense_Mutation_p.D1056H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1064	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGAGGTAATCTACAATCTGC	0.542																																																	0													162	135	144					1																	176853535		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3190G>C	1.37:g.176853535C>G	ENSP00000356626:p.Asp1064His		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.D1064H	ENST00000367654.3	37	c.3190		1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574459	0.86542	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.79	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	L	0.58101	1.795	0.80722	D	1	P;P	0.49783	0.928;0.739	P;B	0.46253	0.509;0.412	T	0.54200	-0.8329	10	0.87932	D	0	-19.005	15.8509	0.78930	0.137:0.863:0.0:0.0	.	1056;1056	O14525-2;B1AJS1	.;.	H	1056;1056;1064;1056;1056	ENSP00000356629:D1056H;ENSP00000354536:D1056H;ENSP00000356626:D1064H;ENSP00000395041:D1056H	ENSP00000354536:D1056H	D	-	1	0	ASTN1	175120158	1.000000	0.71417	0.884000	0.34674	0.991000	0.79684	7.223000	0.78033	1.430000	0.47334	-0.181000	0.13052	GAT	ASTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		C	NM_004319		176853535	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	0.999	G	G	176853535	C	G	176853535	3	3	154	1	0	0	0	0	1	0	0	0	1065	913	32	1	742	1	ASTN1	1	176853535	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	18304076	176853535	72397086	38	27456										
FAM129A	116496	genome.wustl.edu	37	chr1	184764821	184764821	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcttcctgggcgggttcttCatcctcaagggtccctccaa	9	15	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:184764821C>T	ENST00000367511.3	-	14	2270	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	693	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCGGGTTCTTCATCCTCAAGG	0.577																																																	0													60	53	55					1																	184764821		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2077G>A	1.37:g.184764821C>T	ENSP00000356481:p.Glu693Lys		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.E693K	ENST00000367511.3	37	c.2077	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004891	0.19199	.	.	ENSG00000135842	ENST00000367511	T	0.10382	2.88	5.58	-1.24	0.09435	.	1.559240	0.03472	N	0.213847	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35001	-0.9806	10	0.07030	T	0.85	0.2624	7.0278	0.24950	0.0:0.3911:0.352:0.257	.	693	Q9BZQ8	NIBAN_HUMAN	K	693	ENSP00000356481:E693K	ENSP00000356481:E693K	E	-	1	0	FAM129A	183031444	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.294000	0.08309	-0.246000	0.09611	0.491000	0.48974	GAA	FAM129A	-	NULL		0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	C			184764821	-1	no_errors	ENST00000367511	ensembl	human	known	70_37	missense	SNP	0.000	T	T	184764821	C	T	184764821	3	4	154	1	0	0	0	0	1	0	0	0	5451	835	29	1	713	1	FAM129A	1	184764821	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	7911286	184764821	64485800	39	27457										
HMCN1	83872	genome.wustl.edu	37	chr1	186014982	186014982	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctcagtatatctgaaaataGaagtgtgttaaaggtaagga	10	4	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:186014982G>C	ENST00000271588.4	+	41	6696	c.6467G>C	c.(6466-6468)aGa>aCa	p.R2156T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2156T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2156	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTGAAAATAGAAGTGTGTTA	0.368																																																	0													94	92	93					1																	186014982		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6467G>C	1.37:g.186014982G>C	ENSP00000271588:p.Arg2156Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R2156T	ENST00000271588.4	37	c.6467	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994724	0.54041	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.35	4.43	0.53597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051035	0.85682	D	0.000000	T	0.46229	0.1382	N	0.04655	-0.195	0.23889	N	0.996555	B	0.09022	0.002	B	0.04013	0.001	T	0.38415	-0.9662	10	0.42905	T	0.14	.	15.9455	0.79789	0.0:0.1354:0.8646:0.0	.	2156	Q96RW7	HMCN1_HUMAN	T	2156	ENSP00000271588:R2156T;ENSP00000356462:R2156T	ENSP00000271588:R2156T	R	+	2	0	HMCN1	184281605	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.105000	0.64591	1.216000	0.43427	0.650000	0.86243	AGA	HMCN1	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186014982	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	C	C	186014982	G	C	186014982	3	2	154	1	0	0	0	0	1	0	0	0	7240	942	33	1	6629	1	HMCN1	1	186014982	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1250161	186014982	63235639	40	27458										
IPO9	55705	genome.wustl.edu	37	chr1	201838797	201838797	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tctcatctgccaagctttccCtgctgtggcacagtgtaccc	8	15	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:201838797C>G	ENST00000361565.4	+	17	2153	c.2084C>G	c.(2083-2085)cCt>cGt	p.P695R		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	695					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAAGCTTTCCCTGCTGTGGCA	0.488																																																	0													136	111	119					1																	201838797		2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2084C>G	1.37:g.201838797C>G	ENSP00000354742:p.Pro695Arg		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P695R	ENST00000361565.4	37	c.2084	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967478	0.92855	.	.	ENSG00000198700	ENST00000361565	T	0.71698	-0.59	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84899	0.0841	10	0.62326	D	0.03	-9.8707	17.5448	0.87858	0.0:1.0:0.0:0.0	.	695	Q96P70	IPO9_HUMAN	R	695	ENSP00000354742:P695R	ENSP00000354742:P695R	P	+	2	0	IPO9	200105420	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.402000	0.79972	2.740000	0.93945	0.650000	0.86243	CCT	IPO9	-	superfamily_ARM-type_fold		0.488	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201838797	1	no_errors	ENST00000361565	ensembl	human	known	70_37	missense	SNP	1.000	G	G	201838797	C	G	201838797	3	3	154	1	0	0	0	0	1	0	0	0	7819	681	24	4	2150	4	IPO9	1	201838797	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	15823815	201838797	47411824	41	27459										
KDM5B	10765	genome.wustl.edu	37	chr1	202702904	202702904	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggggccttctgacataggcaGatttttatatccacatcttg	9	9	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:202702904G>A	ENST00000367265.3	-	23	4698	c.3534C>T	c.(3532-3534)atC>atT	p.I1178I	KDM5B_ENST00000367264.2_Silent_p.I1214I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1178					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GACATAGGCAGATTTTTATAT	0.507																																																	0													84	90	88					1																	202702904		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3534C>T	1.37:g.202702904G>A			O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.I1178	ENST00000367265.3	37	c.3534	CCDS30974.1	1																																																																																			KDM5B	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.507	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	G	NM_006618		202702904	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	1.000	A	A	202702904	G	A	202702904	2	1	154	1	0	0	0	0	0	0	0	1	8154	932	33	1		1	KDM5B	1	202702904	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	864107	202702904	46547717	42	27460										
FMOD	2331	genome.wustl.edu	37	chr1	203316711	203316711	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccgaaggtggttataactcaGgtccagcaagatcagtgacc	11	10	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:203316711G>C	ENST00000354955.4	-	2	1151	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	230					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTATAACTCAGGTCCAGCAAG	0.562																																																	0													91	88	89					1																	203316711		2203	4300	6503	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.688C>G	1.37:g.203316711G>C	ENSP00000347041:p.Leu230Val		Q15331|Q8IV47	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L230V	ENST00000354955.4	37	c.688	CCDS30976.1	1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019662	0.19355	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.74842	-0.88	5.18	3.16	0.36331	.	0.411877	0.25932	N	0.027376	T	0.69088	0.3072	M	0.71871	2.18	0.37101	D	0.899915	B	0.20780	0.048	B	0.22601	0.04	T	0.65672	-0.6111	10	0.46703	T	0.11	-21.4206	6.1796	0.20463	0.0936:0.0:0.5894:0.317	.	230	Q06828	FMOD_HUMAN	V	217;230	ENSP00000347041:L230V	ENSP00000347041:L230V	L	-	1	2	FMOD	201583334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.361000	0.34136	0.473000	0.27368	0.655000	0.94253	CTG	FMOD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.562	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1	G	NM_002023		203316711	-1	no_errors	ENST00000354955	ensembl	human	known	70_37	missense	SNP	0.998	C	C	203316711	G	C	203316711	3	2	154	1	0	0	0	0	1	0	0	0	5977	991	35	4	450	4	FMOD	1	203316711	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	613807	203316711	45933910	43	27461										
KCNK2	3776	genome.wustl.edu	37	chr1	215256745	215256745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctcatgcttcccagcgcctCgcgggagagacccggctata	11	16	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:215256745C>T	ENST00000444842.2	+	1	167	c.17C>T	c.(16-18)tCg>tTg	p.S6L	KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	6					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.S6W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CCCAGCGCCTCGCGGGAGAGA	0.547																																																	2	Substitution - Missense(2)	urinary_tract(2)											67	76	73					1																	215256745		2203	4300	6503	SO:0001583	missense	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.17C>T	1.37:g.215256745C>T	ENSP00000394033:p.Ser6Leu		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.S6L	ENST00000444842.2	37	c.17	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707250	0.48412	.	.	ENSG00000082482	ENST00000444842	T	0.21191	2.02	4.27	1.18	0.20946	.	0.933707	0.08889	N	0.878957	T	0.15609	0.0376	N	0.22421	0.69	0.23594	N	0.997333	P	0.44241	0.829	B	0.40134	0.32	T	0.23404	-1.0189	10	0.39692	T	0.17	.	11.786	0.52043	0.0:0.4634:0.5366:0.0	.	6	O95069	KCNK2_HUMAN	L	6	ENSP00000394033:S6L	ENSP00000394033:S6L	S	+	2	0	KCNK2	213323368	0.083000	0.21467	0.998000	0.56505	0.998000	0.95712	0.229000	0.17833	0.061000	0.16311	0.655000	0.94253	TCG	KCNK2	-	NULL		0.547	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	C	NM_014217		215256745	1	no_errors	ENST00000444842	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215256745	C	T	215256745	3	4	154	1	0	0	0	0	1	0	0	0	8086	893	31	1	62	1	KCNK2	1	215256745	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	11940034	215256745	33993876	44	27462										
SLC30A10	55532	genome.wustl.edu	37	chr1	220100374	220100374	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccaaagtcaatcctacctctGatattcagagcttcagactt	5	12	4	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:220100374G>A	ENST00000366926.3	-	2	875	c.714C>T	c.(712-714)atC>atT	p.I238I	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	238					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCCTACCTCTGATATTCAGAG	0.383																																					Colon(76;360 1614 43677 51136)												0													166	155	159					1																	220100374		2203	4300	6503	SO:0001819	synonymous_variant	55532			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.714C>T	1.37:g.220100374G>A			Q49AL9|Q9NPW0	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.I238	ENST00000366926.3	37	c.714	CCDS31026.1	1																																																																																			SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.383	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	G	NM_018713		220100374	-1	no_errors	ENST00000366926	ensembl	human	known	70_37	silent	SNP	1.000	A	A	220100374	G	A	220100374	2	1	154	1	0	0	0	0	0	0	0	1	14584	1280	45	1		1	SLC30A10	1	220100374	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4843629	220100374	29150247	45	27463										
ACBD3	64746	genome.wustl.edu	37	chr1	226353582	226353582	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctgtcattccccaacacatCaaagaatccaacctcaggac	4	16	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:226353582C>G	ENST00000366812.5	-	2	460	c.406G>C	c.(406-408)Gat>Cat	p.D136H		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	136	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CCCAACACATCAAAGAATCCA	0.388																																																	0													122	116	118					1																	226353582		2203	4300	6503	SO:0001583	missense	64746			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.406G>C	1.37:g.226353582C>G	ENSP00000355777:p.Asp136His		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD	p.D136H	ENST00000366812.5	37	c.406	CCDS1551.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999556	0.93227	.	.	ENSG00000182827	ENST00000366812	T	0.27402	1.67	5.9	5.9	0.94986	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78861	-0.2037	10	0.87932	D	0	-31.348	20.2704	0.98474	0.0:1.0:0.0:0.0	.	136	Q9H3P7	GCP60_HUMAN	H	136	ENSP00000355777:D136H	ENSP00000355777:D136H	D	-	1	0	ACBD3	224420205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.023000	0.70848	2.793000	0.96121	0.591000	0.81541	GAT	ACBD3	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein		0.388	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD3	HGNC	protein_coding	OTTHUMT00000091528.1	C	NM_022735		226353582	-1	no_errors	ENST00000366812	ensembl	human	known	70_37	missense	SNP	1.000	G	G	226353582	C	G	226353582	3	3	154	1	0	0	0	0	1	0	0	0	123	826	29	1	1208	1	ACBD3	1	226353582	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6253208	226353582	22897039	46	27464										
OBSCN	84033	genome.wustl.edu	37	chr1	228461607	228461607	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggctcaaggatggtgtggaGattcgccgcagcaagcggca	16	9	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:228461607G>A	ENST00000422127.1	+	18	5318	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.E2133E|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Silent_p.E605E|OBSCN_ENST00000284548.11_Silent_p.E1758E|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1758	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGTGTGGAGATTCGCCGCA	0.642																																																	0													20	24	23					1																	228461607		2107	4217	6324	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5274G>A	1.37:g.228461607G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E1758	ENST00000422127.1	37	c.5274	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228461607	1	no_errors	ENST00000422127	ensembl	human	known	70_37	silent	SNP	1.000	A	A	228461607	G	A	228461607	2	1	154	1	0	0	0	0	0	0	0	1	10836	933	33	1		1	OBSCN	1	228461607	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2108025	228461607	20789014	47	27465										
ARV1	64801	genome.wustl.edu	37	chr1	231131561	231131561	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgtgggtagaacggcccatGacggcaaaaaaaaagcccaa	11	10	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:231131561G>T	ENST00000310256.2	+	4	561	c.504G>T	c.(502-504)atG>atT	p.M168I	ARV1_ENST00000366658.2_Missense_Mutation_p.M128I|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	168					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AACGGCCCATGACGGCAAAAA	0.383																																																	0													77	75	76					1																	231131561		2203	4300	6503	SO:0001583	missense	64801			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"ARV1 homolog (yeast)"			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.504G>T	1.37:g.231131561G>T	ENSP00000312458:p.Met168Ile		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	pfam_Arv1	p.M168I	ENST00000310256.2	37	c.504	CCDS1589.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.885|1.885	-0.457020|-0.457020	0.04540|0.04540	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000310256;ENST00000366658|ENST00000450711;ENST00000435927	T;T|.	0.41758|.	0.99;0.99|.	5.62|5.62	2.62|2.62	0.31277|0.31277	.|.	0.864310|.	0.10737|.	N|.	0.639931|.	T|.	0.23727|.	0.0574|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|.	0.19516|.	-1.0303|.	10|.	0.31617|.	T|.	0.26|.	-15.4635|-15.4635	5.9709|5.9709	0.19351|0.19351	0.2866:0.151:0.5624:0.0|0.2866:0.151:0.5624:0.0	.|.	168|.	Q9H2C2|.	ARV1_HUMAN|.	I|L	168;128|165;188	ENSP00000312458:M168I;ENSP00000355618:M128I|.	ENSP00000312458:M168I|.	M|X	+|+	3|2	0|2	ARV1|ARV1	229198184|229198184	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.432000|0.432000	0.31715|0.31715	0.869000|0.869000	0.27996|0.27996	0.790000|0.790000	0.33803|0.33803	0.650000|0.650000	0.86243|0.86243	ATG|TGA	ARV1	-	pfam_Arv1		0.383	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	G	NM_022786		231131561	1	no_errors	ENST00000310256	ensembl	human	known	70_37	missense	SNP	0.000	T	T	231131561	G	T	231131561	3	4	154	1	0	0	0	0	1	0	0	0	1003	1290	45	3	518	3	ARV1	1	231131561	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2669954	231131561	18119060	48	27466										
TRIM67	440730	genome.wustl.edu	37	chr1	231333183	231333183	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagcaaaggagtttctggttCagctaaagaacatattgcag	10	6	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:231333183C>T	ENST00000366653.5	+	2	1111	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	TRIM67_ENST00000444294.3_Nonsense_Mutation_p.Q371*|TRIM67_ENST00000449018.3_Nonsense_Mutation_p.Q309*|TRIM67_ENST00000366652.2_Nonsense_Mutation_p.Q371*			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	371					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTTTCTGGTTCAGCTAAAGAA	0.408																																																	0													128	120	122					1																	231333183		1929	4154	6083	SO:0001587	stop_gained	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1111C>T	1.37:g.231333183C>T	ENSP00000355613:p.Gln371*		Q5TER7|Q5TER8|Q7Z4K7	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.Q371*	ENST00000366653.5	37	c.1111	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	C	46	12.570435	0.99679	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	.	.	.	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	13.9826	0.64315	0.0:0.9277:0.0:0.0723	.	.	.	.	X	371;371;309;371	.	ENSP00000355612:Q371X	Q	+	1	0	TRIM67	229399806	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.725000	0.68507	2.643000	0.89663	0.655000	0.94253	CAG	TRIM67	-	smart_Bbox_C		0.408	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	C	NM_001004342		231333183	1	no_errors	ENST00000366652	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	231333183	C	T	231333183	4	4	154	1	0	0	0	0	0	1	0	0	16571	827	29	1	1117	1	TRIM67	1	231333183	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	201622	231333183	17917438	49	27467										
C1orf57	84284	genome.wustl.edu	37	chr1	233091309	233091309	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttttttattttaggagttgGaaaaacaacattgatccata	6	4	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:233091309G>C	ENST00000366628.5	+	2	128	c.41G>C	c.(40-42)gGa>gCa	p.G14A	NTPCR_ENST00000366627.4_Missense_Mutation_p.G14A	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	14						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						ttAGGAGTTGGAAAAACAACA	0.393																																																	0													40	40	40					1																	233091309		2202	4300	6502	SO:0001583	missense	84284			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"human cancer-related NTPase"		"chromosome 1 open reading frame 57"	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.41G>C	1.37:g.233091309G>C	ENSP00000355587:p.Gly14Ala			Missense_Mutation	SNP	pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase	p.G14A	ENST00000366628.5	37	c.41	CCDS1597.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369185	0.82463	.	.	ENSG00000135778	ENST00000366628;ENST00000366627	D;D	0.93859	-3.3;-3.3	5.12	5.12	0.69794	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99327	1.0908	10	0.72032	D	0.01	-5.3572	18.7591	0.91843	0.0:0.0:1.0:0.0	.	14;14	Q9BSD7;Q5TDF0	NTPCR_HUMAN;.	A	14	ENSP00000355587:G14A;ENSP00000355586:G14A	ENSP00000355586:G14A	G	+	2	0	NTPCR	231157932	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.271000	0.89883	2.647000	0.89833	0.655000	0.94253	GGA	NTPCR	-	pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase		0.393	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTPCR	HGNC	protein_coding	OTTHUMT00000092324.2	G	NM_032324		233091309	1	no_errors	ENST00000366627	ensembl	human	known	70_37	missense	SNP	1.000	C	C	233091309	G	C	233091309	3	2	154	1	0	0	0	0	1	0	0	0	2054	1174	41	1	47	1	C1orf57	1	233091309	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1758126	233091309	16159312	50	27468										
TARBP1	6894	genome.wustl.edu	37	chr1	234529150	234529150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tctgcagagacactgaggtgCtgaaactgtttgtcgctgat	12	8	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:234529150C>T	ENST00000040877.1	-	28	4517	c.4518G>A	c.(4516-4518)caG>caA	p.Q1506Q	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1506					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CACTGAGGTGCTGAAACTGTT	0.493																																																	0													113	102	106					1																	234529150		2203	4300	6503	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4518G>A	1.37:g.234529150C>T			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.Q1506	ENST00000040877.1	37	c.4518	CCDS1601.1	1																																																																																			TARBP1	-	pfam_SpoU_MeTrfase		0.493	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646		234529150	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	silent	SNP	1.000	T	T	234529150	C	T	234529150	2	4	154	1	0	0	0	0	0	0	0	1	15585	796	28	4		4	TARBP1	1	234529150	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1437841	234529150	14721471	51	27469										
RYR2	6262	genome.wustl.edu	37	chr1	237919656	237919656	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cacgatcgtggcgcggctgaGatggtgctacagacaatcag	14	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:237919656G>A	ENST00000366574.2	+	81	11531	c.11214G>A	c.(11212-11214)gaG>gaA	p.E3738E	RYR2_ENST00000360064.6_Silent_p.E3744E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.E3722E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3738					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGCGGCTGAGATGGTGCTAC	0.488																																																	0													95	99	98					1																	237919656		1964	4167	6131	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11214G>A	1.37:g.237919656G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E3744	ENST00000366574.2	37	c.11232	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237919656	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A	A	237919656	G	A	237919656	2	1	154	1	0	0	0	0	0	0	0	1	13799	933	33	1		1	RYR2	1	237919656	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3390506	237919656	11330965	52	27470										
KIF26B	55083	genome.wustl.edu	37	chr1	245847666	245847666	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caccatccagattgcatcgaGagtcttgaggatgaagaaaa	10	8	1	5			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr1:245847666G>A	ENST00000407071.2	+	11	2830	c.2390G>A	c.(2389-2391)aGa>aAa	p.R797K	KIF26B_ENST00000366518.4_Missense_Mutation_p.R416K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	797	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATTGCATCGAGAGTCTTGAGG	0.597																																																	0													36	37	37					1																	245847666		1953	4150	6103	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2390G>A	1.37:g.245847666G>A	ENSP00000385545:p.Arg797Lys		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R797K	ENST00000407071.2	37	c.2390	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780354	0.90195	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77098	-1.07;-1.07	5.73	5.73	0.89815	Kinesin, motor domain (3);	.	.	.	.	D	0.87458	0.6182	M	0.68317	2.08	0.58432	D	0.999997	P;D	0.54772	0.855;0.968	P;D	0.67382	0.902;0.951	D	0.87793	0.2620	9	0.87932	D	0	.	19.8966	0.96963	0.0:0.0:1.0:0.0	.	416;797	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	797;416;413	ENSP00000385545:R797K;ENSP00000355475:R416K	ENSP00000355475:R416K	R	+	2	0	KIF26B	243914289	1.000000	0.71417	0.629000	0.29254	0.797000	0.45037	9.869000	0.99810	2.700000	0.92200	0.655000	0.94253	AGA	KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245847666	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	0.765	A	A	245847666	G	A	245847666	3	1	154	1	0	0	0	0	1	0	0	0	8315	942	33	1	2432	1	KIF26B	1	245847666	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7928010	245847666	3402955	53	27471										
PUM2	23369	genome.wustl.edu	37	chr2	20494214	20494214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgcagctgcagcttgctgctGaaataagttggctggataca	12	9	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:20494214G>C	ENST00000361078.2	-	8	1097	c.1075C>G	c.(1075-1077)Cag>Gag	p.Q359E	PUM2_ENST00000319801.5_Missense_Mutation_p.Q359E|PUM2_ENST00000403432.1_Missense_Mutation_p.Q359E|PUM2_ENST00000536417.1_Missense_Mutation_p.Q303E|PUM2_ENST00000338086.5_Missense_Mutation_p.Q359E			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	359	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGCTGCTGAAATAAGTTG	0.517																																																	0													127	122	123					2																	20494214		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1075C>G	2.37:g.20494214G>C	ENSP00000354370:p.Gln359Glu		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q359E	ENST00000361078.2	37	c.1075		2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975861	0.92982	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.22539	2.1;2.34;2.28;1.95;2.1;2.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.62723	1.935	0.80722	D	1	P;P;D	0.53885	0.792;0.924;0.963	P;P;P	0.60012	0.695;0.857;0.867	T	0.09684	-1.0663	10	0.06891	T	0.86	-3.7287	19.8689	0.96843	0.0:0.0:1.0:0.0	.	303;359;359	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	E	359;359;359;250;359;303	ENSP00000338173:Q359E;ENSP00000354370:Q359E;ENSP00000326746:Q359E;ENSP00000409905:Q250E;ENSP00000385992:Q359E;ENSP00000440093:Q303E	ENSP00000326746:Q359E	Q	-	1	0	PUM2	20357695	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.869000	0.99810	2.695000	0.91970	0.557000	0.71058	CAG	PUM2	-	NULL		0.517	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		G	NM_015317		20494214	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20494214	G	C	20494214	3	2	154	1	0	0	0	0	1	0	0	0	12856	1299	45	1	2171	1	PUM2	2	20494214	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		20494214	222705159	54	27472										
ITSN2	50618	genome.wustl.edu	37	chr2	24498643	24498643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	taatcttttcctttcaatttCcttcaacttgtcacgtttga	3	10	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:24498643C>T	ENST00000355123.4	-	18	2463	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	ITSN2_ENST00000361999.3_Missense_Mutation_p.E647K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E674K|SCARNA21_ENST00000515996.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	674					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTCAATTTCCTTCAACTTG	0.343																																																	0													166	153	158					2																	24498643		2203	4299	6502	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2020G>A	2.37:g.24498643C>T	ENSP00000347244:p.Glu674Lys		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E674K	ENST00000355123.4	37	c.2020	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113622	0.77210	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.62105	1.46;0.05;1.46;0.44	5.57	5.57	0.84162	.	0.000000	0.37623	U	0.002009	T	0.74794	0.3763	M	0.73217	2.22	0.47659	D	0.999484	D;D;P	0.55605	0.972;0.972;0.953	P;P;P	0.53912	0.737;0.737;0.551	T	0.76974	-0.2760	10	0.72032	D	0.01	.	19.9464	0.97184	0.0:1.0:0.0:0.0	.	674;647;674	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	K	647;674;647;674	ENSP00000354561:E647K;ENSP00000347244:E674K;ENSP00000370250:E647K;ENSP00000384499:E674K	ENSP00000347244:E674K	E	-	1	0	ITSN2	24352147	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.984000	0.63838	2.798000	0.96311	0.650000	0.86243	GAA	ITSN2	-	NULL		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24498643	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24498643	C	T	24498643	3	4	154	1	0	0	0	0	1	0	0	0	7947	864	30	1	3216	1	ITSN2	2	24498643	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4004429	24498643	218700730	55	27473										
ITSN2	50618	genome.wustl.edu	37	chr2	24521654	24521654	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	attctctcccattctaagcgAcgttgtcgttcaagttcctg	7	12	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:24521654A>G	ENST00000355123.4	-	13	1817	c.1374T>C	c.(1372-1374)cgT>cgC	p.R458R	ITSN2_ENST00000361999.3_Silent_p.R458R|ITSN2_ENST00000406921.3_Silent_p.R458R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	458					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTAAGCGACGTTGTCGTT	0.343																																																	0													113	116	115					2																	24521654		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1374T>C	2.37:g.24521654A>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.R458	ENST00000355123.4	37	c.1374	CCDS1710.2	2																																																																																			ITSN2	-	NULL		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	A	NM_006277		24521654	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	silent	SNP	0.308	G	G	24521654	A	G	24521654	2	3	154	1	0	0	0	0	0	0	0	1	7947	262	10	5		5	ITSN2	2	24521654	Silent	SNP	A	TCGA-IR-A3LL-01A-11D-A20U-09	23011	24521654	218677719	56	27474										
LRPPRC	10128	genome.wustl.edu	37	chr2	44145397	44145397	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tatgccaaaaacaattacctCaggtacgtcaaacggaactt	6	10	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:44145397C>T	ENST00000260665.7	-	28	3094	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1013					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAATTACCTCAGGTACGTCA	0.313																																																	0													103	113	110					2																	44145397		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3037G>A	2.37:g.44145397C>T	ENSP00000260665:p.Glu1013Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E1013K	ENST00000260665.7	37	c.3037	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393203	0.42410	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56611	0.45	5.84	4.78	0.61160	.	0.175397	0.50627	D	0.000112	T	0.44117	0.1278	L	0.53729	1.69	0.80722	D	1	B;B	0.21071	0.048;0.051	B;B	0.21360	0.034;0.022	T	0.28202	-1.0051	10	0.06891	T	0.86	-7.4028	13.5404	0.61671	0.0:0.884:0.0:0.116	.	913;1013	F5H4J6;P42704	.;LPPRC_HUMAN	K	913;1013	ENSP00000260665:E1013K	ENSP00000260665:E1013K	E	-	1	0	LRPPRC	43998901	0.646000	0.27295	0.999000	0.59377	0.991000	0.79684	0.968000	0.29357	2.764000	0.94973	0.655000	0.94253	GAG	LRPPRC	-	NULL		0.313	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44145397	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.958	T	T	44145397	C	T	44145397	3	4	154	1	0	0	0	0	1	0	0	0	8988	835	29	1	1191	1	LRPPRC	2	44145397	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	19623743	44145397	199053976	57	27475										
NFU1	27247	genome.wustl.edu	37	chr2	69633183	69633183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtatctaacaattccttaatCattgccacaacttcatcatc	2	12	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:69633183C>T	ENST00000410022.2	-	6	721	c.516G>A	c.(514-516)atG>atA	p.M172I	NFU1_ENST00000303698.3_Missense_Mutation_p.M148I|NFU1_ENST00000394305.1_Missense_Mutation_p.M31I|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000462320.1_Missense_Mutation_p.M31I	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	172					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						ATTCCTTAATCATTGCCACAA	0.323																																																	0													134	129	131					2																	69633183		2203	4300	6503	SO:0001583	missense	27247			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.516G>A	2.37:g.69633183C>T	ENSP00000387219:p.Met172Ile		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5	p.M172I	ENST00000410022.2	37	c.516	CCDS33217.1	2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771276	0.90108	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320;ENST00000450796;ENST00000484177	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.07	5.07	0.68467	.	0.035047	0.85682	D	0.000000	D	0.82838	0.5124	M	0.85197	2.74	0.80722	D	1	P;P	0.43973	0.494;0.823	B;P	0.48089	0.221;0.566	D	0.85871	0.1416	10	0.66056	D	0.02	-19.9983	17.6738	0.88225	0.0:1.0:0.0:0.0	.	148;172	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	I	172;148;31;31;31;31	ENSP00000387219:M172I;ENSP00000306965:M148I;ENSP00000377842:M31I;ENSP00000418598:M31I;ENSP00000415102:M31I;ENSP00000417693:M31I	ENSP00000306965:M148I	M	-	3	0	NFU1	69486687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.102000	0.77005	2.637000	0.89404	0.585000	0.79938	ATG	NFU1	-	pirsf_HIRA-interacting_protein_5		0.323	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFU1	HGNC	protein_coding	OTTHUMT00000327279.3	C	NM_015700		69633183	-1	no_errors	ENST00000410022	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69633183	C	T	69633183	3	4	154	1	0	0	0	0	1	0	0	0	10410	826	29	1	260	1	NFU1	2	69633183	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	25487786	69633183	173566190	58	27476										
ADD2	119	genome.wustl.edu	37	chr2	70890611	70890611	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttcaggaaggagggggttcgGaatttctttttcttctttga	12	5	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:70890611G>A	ENST00000264436.4	-	16	2571	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	ADD2_ENST00000407644.2_Silent_p.F709F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	709	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGGGTTCGGAATTTCTTTT	0.527																																																	0													160	168	165					2																	70890611		2203	4300	6503	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.2127C>T	2.37:g.70890611G>A			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.F709	ENST00000264436.4	37	c.2127	CCDS1906.1	2																																																																																			ADD2	-	NULL		0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	G	NM_001617		70890611	-1	no_errors	ENST00000264436	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70890611	G	A	70890611	2	1	154	1	0	0	0	0	0	0	0	1	305	1165	41	1		1	ADD2	2	70890611	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1257428	70890611	172308762	59	27477										
SNRNP200	23020	genome.wustl.edu	37	chr2	96940773	96940773	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atctgaatcactgtctgtctCagcttctttcacatccacgc	5	14	6	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:96940773C>G	ENST00000323853.5	-	45	6465	c.6388G>C	c.(6388-6390)Gag>Cag	p.E2130Q	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E619Q	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2130					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGTCTGTCTCAGCTTCTTTC	0.463																																																	0													174	159	164					2																	96940773		2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6388G>C	2.37:g.96940773C>G	ENSP00000317123:p.Glu2130Gln		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2130Q	ENST00000323853.5	37	c.6388	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718834	0.48622	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000536601;ENST00000543553	T;T	0.68624	-0.34;1.47	5.31	5.31	0.75309	.	0.061488	0.64402	D	0.000005	T	0.56093	0.1962	L	0.34521	1.04	0.30984	N	0.722215	B	0.10296	0.003	B	0.09377	0.004	T	0.52917	-0.8511	10	0.21540	T	0.41	-24.9579	16.5621	0.84569	0.0:1.0:0.0:0.0	.	2130	O75643	U520_HUMAN	Q	2130;619;589;713	ENSP00000317123:E2130Q;ENSP00000326937:E619Q	ENSP00000317123:E2130Q	E	-	1	0	SNRNP200	96304500	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	7.548000	0.82154	2.489000	0.83994	0.650000	0.86243	GAG	SNRNP200	-	NULL		0.463	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	C	NM_014014		96940773	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	missense	SNP	0.999	G	G	96940773	C	G	96940773	3	3	154	1	0	0	0	0	1	0	0	0	14882	835	29	1	26	1	SNRNP200	2	96940773	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	26050162	96940773	146258600	60	27478										
ANKRD36	375248	genome.wustl.edu	37	chr2	97866212	97866212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cacaagtgatgagaaggattCtttttcgaatataaccagag	9	6	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:97866212C>G	ENST00000461153.2	+	46	3051	c.2807C>G	c.(2806-2808)tCt>tGt	p.S936C	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S936C			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	936										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGAAGGATTCTTTTTCGAAT	0.323																																																	0													134	135	135					2																	97866212		692	1591	2283	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2807C>G	2.37:g.97866212C>G	ENSP00000419530:p.Ser936Cys		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S936C	ENST00000461153.2	37	c.2807	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	8.976	0.974152	0.18736	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.79352	-1.26;-1.26	0.85	-0.149	0.13420	.	.	.	.	.	T	0.73265	0.3565	L	0.42245	1.32	0.09310	N	1	D	0.62365	0.991	P	0.52710	0.707	T	0.62416	-0.6859	9	0.72032	D	0.01	.	3.1025	0.06330	0.0:0.6524:0.0:0.3476	.	936	A6QL64	AN36A_HUMAN	C	936;936;298	ENSP00000419530:S936C;ENSP00000391950:S936C	ENSP00000391950:S936C	S	+	2	0	ANKRD36	97229939	0.002000	0.14202	0.039000	0.18376	0.011000	0.07611	0.597000	0.24059	-0.068000	0.12953	0.162000	0.16502	TCT	ANKRD36	-	NULL		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	C			97866212	1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.052	G	G	97866212	C	G	97866212	3	3	154	1	0	0	0	0	1	0	0	0	665	913	32	1	2989	1	ANKRD36	2	97866212	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	925439	97866212	145333161	61	27479										
NPAS2	4862	genome.wustl.edu	37	chr2	101591925	101591925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gttgctttcttacagccactCccaccaagctgatggcagag	9	13	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:101591925C>G	ENST00000335681.5	+	14	1573	c.1288C>G	c.(1288-1290)Ccc>Gcc	p.P430A	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.P495A|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	430					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACAGCCACTCCCACCAAGCT	0.567																																																	0													116	121	119					2																	101591925		2203	4300	6503	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1288C>G	2.37:g.101591925C>G	ENSP00000338283:p.Pro430Ala		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS	p.P495A	ENST00000335681.5	37	c.1483	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706612	0.48412	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.30714	3.51;3.47;1.52	5.93	5.01	0.66863	.	0.391329	0.24202	N	0.040618	T	0.28267	0.0698	L	0.42245	1.32	0.38698	D	0.952912	P;B;B	0.36110	0.537;0.25;0.23	B;B;B	0.40134	0.32;0.099;0.074	T	0.06481	-1.0824	10	0.40728	T	0.16	.	9.23	0.37430	0.0:0.7777:0.1471:0.0751	.	495;430;430	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	A	430;495;29	ENSP00000338283:P430A;ENSP00000438428:P495A;ENSP00000392125:P29A	ENSP00000338283:P430A	P	+	1	0	NPAS2	100958357	0.739000	0.28196	0.896000	0.35187	0.884000	0.51177	2.342000	0.43992	2.826000	0.97356	0.655000	0.94253	CCC	NPAS2	-	NULL		0.567	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	C			101591925	1	no_errors	ENST00000542504	ensembl	human	known	70_37	missense	SNP	0.980	G	G	101591925	C	G	101591925	3	3	154	1	0	0	0	0	1	0	0	0	10587	855	30	1	1338	1	NPAS2	2	101591925	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3725713	101591925	141607448	62	27480										
IL1R2	7850	genome.wustl.edu	37	chr2	102632495	102632495	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acccgtgacaaaactgacgtGaagattcaatggtacaaggt	10	8	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:102632495G>A	ENST00000332549.3	+	4	724	c.495G>A	c.(493-495)gtG>gtA	p.V165V	IL1R2_ENST00000393414.2_Silent_p.V165V|IL1R2_ENST00000441002.1_Silent_p.V165V	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						AAACTGACGTGAAGATTCAAT	0.373																																					Pancreas(106;189 1628 2302 5133 12295)												0													61	58	59					2																	102632495		2203	4300	6503	SO:0001819	synonymous_variant	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.495G>A	2.37:g.102632495G>A			D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.V165	ENST00000332549.3	37	c.495	CCDS2054.1	2																																																																																			IL1R2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II		0.373	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	G	NM_004633		102632495	1	no_errors	ENST00000332549	ensembl	human	known	70_37	silent	SNP	0.001	A	A	102632495	G	A	102632495	2	1	154	1	0	0	0	0	0	0	0	1	7679	1277	45	1		1	IL1R2	2	102632495	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1040570	102632495	140566878	63	27481										
MYO7B	4648	genome.wustl.edu	37	chr2	128387388	128387388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccccacggtcactaagccctCggcacagctgctggtaactg	10	16	1	0	rs373498646		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:128387388C>T	ENST00000409816.2	+	33	4747	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L	MYO7B_ENST00000389524.4_Missense_Mutation_p.S1572L|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1572L|MYO7B_ENST00000409090.1_Missense_Mutation_p.S425L|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1572						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTAAGCCCTCGGCACAGCTG	0.647																																																	0													52	60	57					2																	128387388		2084	4209	6293	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4715C>T	2.37:g.128387388C>T	ENSP00000386461:p.Ser1572Leu		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.S1572L	ENST00000409816.2	37	c.4715	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	c	35	5.447676	0.96205	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.83	5.83	0.93111	Src homology-3 domain (1);	0.269245	0.36893	N	0.002345	T	0.81607	0.4858	M	0.83603	2.65	0.49389	D	0.999782	D	0.71674	0.998	P	0.58660	0.843	T	0.80986	-0.1137	10	0.41790	T	0.15	.	20.1152	0.97926	0.0:1.0:0.0:0.0	.	1572	Q6PIF6	MYO7B_HUMAN	L	1572;1572;667;1572;425	ENSP00000374175:S1572L;ENSP00000415090:S1572L;ENSP00000386461:S1572L;ENSP00000386850:S425L	ENSP00000272666:S667L	S	+	2	0	MYO7B	128103858	0.991000	0.36638	0.908000	0.35775	0.839000	0.47603	5.600000	0.67599	2.750000	0.94351	0.655000	0.94253	TCG	MYO7B	-	superfamily_SH3_domain		0.647	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128387388	1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	0.998	T	T	128387388	C	T	128387388	3	4	154	1	0	0	0	0	1	0	0	0	10106	893	31	1	4845	1	MYO7B	2	128387388	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	25754893	128387388	114811985	64	27482										
TTN	7273	genome.wustl.edu	37	chr2	179455128	179455128	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctttatacggaatctgtactCatttccttcaattagtccag	5	10	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:179455128C>T	ENST00000591111.1	-	254	56625	c.56401G>A	c.(56401-56403)Gag>Aag	p.E18801K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E20442K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17874K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11569K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11502K|TTN_ENST00000460472.2_Missense_Mutation_p.E11377K|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18801	Fibronectin type-III 36. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCTGTACTCATTTCCTTCA	0.418																																																	0													128	120	122					2																	179455128		1915	4128	6043	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56401G>A	2.37:g.179455128C>T	ENSP00000465570:p.Glu18801Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E17874K	ENST00000591111.1	37	c.53620		2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921490	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67297	0.2878	L	0.54863	1.705	0.52099	D	0.999941	D;D;D;D	0.61697	0.961;0.961;0.961;0.99	P;P;P;P	0.57846	0.764;0.764;0.764;0.828	T	0.66913	-0.5803	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11377;11502;11569;18801	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	17874;11377;11569;11502;11375	ENSP00000343764:E17874K;ENSP00000434586:E11377K;ENSP00000340554:E11569K;ENSP00000352154:E11502K	ENSP00000340554:E11569K	E	-	1	0	TTN	179163374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.864000	0.56024	2.906000	0.99361	0.655000	0.94253	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179455128	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179455128	C	T	179455128	3	4	154	1	0	0	0	0	1	0	0	0	16766	835	29	1	46891	1	TTN	2	179455128	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	51067740	179455128	63744245	65	27483										
FSIP2	401024	genome.wustl.edu	37	chr2	186661203	186661203	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttcaattagcatattgaaaGagaacattgtagcaagtgag	9	5	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:186661203G>A	ENST00000424728.1	+	16	9340	c.9340G>A	c.(9340-9342)Gag>Aag	p.E3114K	FSIP2_ENST00000343098.5_Missense_Mutation_p.E3203K|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3114										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATATTGAAAGAGAACATTGT	0.348																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.9340G>A	2.37:g.186661203G>A	ENSP00000401306:p.Glu3114Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.E3203K	ENST00000424728.1	37	c.9607		2	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402760	0.42613	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.57595	0.39;0.4	5.32	5.32	0.75619	.	0.000000	0.56097	D	0.000030	T	0.56277	0.1974	L	0.43152	1.355	0.32255	N	0.570892	.	.	.	.	.	.	T	0.65409	-0.6175	8	0.52906	T	0.07	.	14.3872	0.66953	0.0:0.0:1.0:0.0	.	.	.	.	K	3203;3114;3114	ENSP00000344403:E3203K;ENSP00000401306:E3114K	ENSP00000321903:E3114K	E	+	1	0	FSIP2	186369448	1.000000	0.71417	0.971000	0.41717	0.449000	0.32228	4.613000	0.61176	2.767000	0.95098	0.557000	0.71058	GAG	FSIP2	-	NULL		0.348	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186661203	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.993	A	A	186661203	G	A	186661203	3	1	154	1	0	0	0	0	1	0	0	0	6093	943	33	1	9669	1	FSIP2	2	186661203	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7206075	186661203	56538170	66	27484										
TMEFF2	23671	genome.wustl.edu	37	chr2	192922421	192922421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttaccagacatcctcggcatCttcgtcacattctgcaccaa	5	15	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:192922421C>G	ENST00000272771.5	-	5	1704	c.520G>C	c.(520-522)Gat>Cat	p.D174H	TMEFF2_ENST00000392314.1_Missense_Mutation_p.D174H	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	174						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCCTCGGCATCTTCGTCACAT	0.383																																					Pancreas(50;1277 1381 28487 47072)												0													121	109	113					2																	192922421		2203	4300	6503	SO:0001583	missense	23671			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.520G>C	2.37:g.192922421C>G	ENSP00000272771:p.Asp174His		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom	p.D174H	ENST00000272771.5	37	c.520	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200985	0.79015	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.74842	-0.88;-0.88	4.68	4.68	0.58851	.	0.056069	0.64402	D	0.000001	T	0.80281	0.4594	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82540	-0.0406	10	0.87932	D	0	-20.1717	16.3329	0.83049	0.0:1.0:0.0:0.0	.	174	Q9UIK5	TEFF2_HUMAN	H	174	ENSP00000376128:D174H;ENSP00000272771:D174H	ENSP00000272771:D174H	D	-	1	0	TMEFF2	192630666	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.787000	0.75099	2.592000	0.87571	0.650000	0.86243	GAT	TMEFF2	-	NULL		0.383	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	C	NM_016192		192922421	-1	no_errors	ENST00000272771	ensembl	human	known	70_37	missense	SNP	1.000	G	G	192922421	C	G	192922421	3	3	154	1	0	0	0	0	1	0	0	0	16044	913	32	1	628	1	TMEFF2	2	192922421	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6261218	192922421	50276952	67	27485										
ANKRD44	91526	genome.wustl.edu	37	chr2	197964597	197964597	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcaaaagctcatgaccgtatCttgcagccacatggagagga	10	10	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:197964597C>T	ENST00000328737.2	-	10	1044	c.968G>A	c.(967-969)aGa>aAa	p.R323K	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R323K|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R340K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R323K|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R276K|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R348K|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R348K			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	348										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATGACCGTATCTTGCAGCCAC	0.443																																																	0													159	145	150					2																	197964597		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.968G>A	2.37:g.197964597C>T	ENSP00000331516:p.Arg323Lys		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R323K	ENST00000328737.2	37	c.968		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770196	0.90108	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T;T	0.65364	-0.1;-0.1;-0.15;-0.15;-0.15;-0.15;-0.1;-0.15;-0.15	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	L	0.31526	0.94	0.53005	D	0.999966	B;D;D	0.56035	0.318;0.974;0.974	B;D;D	0.72338	0.16;0.97;0.977	T	0.66329	-0.5951	10	0.29301	T	0.29	.	17.6819	0.88246	0.0:1.0:0.0:0.0	.	276;348;348	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	K	145;340;323;323;323;46;348;276;348	ENSP00000403415:R145K;ENSP00000282272:R340K;ENSP00000331516:R323K;ENSP00000402420:R323K;ENSP00000338794:R323K;ENSP00000416319:R46K;ENSP00000387141:R348K;ENSP00000437825:R276K;ENSP00000387233:R348K	ENSP00000282272:R340K	R	-	2	0	ANKRD44	197672842	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.879000	0.69690	2.419000	0.82065	0.491000	0.48974	AGA	ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.443	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197964597	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197964597	C	T	197964597	3	4	154	1	0	0	0	0	1	0	0	0	672	913	32	1	1859	1	ANKRD44	2	197964597	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5042176	197964597	45234776	68	27486										
CASP8	841	genome.wustl.edu	37	chr2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acatggggaaacagatgcctCagcctactttcacactaaga	8	11	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:202151270C>T	ENST00000432109.2	+	10	1582	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q524*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												1	Substitution - Nonsense(1)	breast(1)											205	182	190					2																	202151270		2203	4300	6503	SO:0001587	stop_gained	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1393C>T	2.37:g.202151270C>T	ENSP00000412523:p.Gln465*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q524*	ENST00000432109.2	37	c.1570	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833399	0.50951	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.86	5.86	0.93980	.	0.478710	0.24200	N	0.040632	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	.	.	.	X	450;381;465;482;524;450;244	.	ENSP00000264274:Q381X	Q	+	1	0	CASP8	201859515	0.797000	0.28877	0.987000	0.45799	0.013000	0.08279	1.536000	0.36072	2.759000	0.94783	0.650000	0.86243	CAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202151270	1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	202151270	C	T	202151270	4	4	154	1	0	0	0	0	0	1	0	0	2682	827	29	1	1704	1	CASP8	2	202151270	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4186673	202151270	41048103	69	27487										
AAMP	14	genome.wustl.edu	37	chr2	219134255	219134255	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttccatctcctgggccaggtCatctgctttggggagagggt	14	10	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:219134255C>T	ENST00000248450.4	-	2	294	c.124G>A	c.(124-126)Gac>Aac	p.D42N	AAMP_ENST00000444053.1_Missense_Mutation_p.D43N|PNKD_ENST00000273077.4_5'Flank|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000420660.1_Missense_Mutation_p.D23N			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	42					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCCAGGTCATCTGCTTTG	0.602																																																	0													59	59	59					2																	219134255		2203	4300	6503	SO:0001583	missense	14			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.124G>A	2.37:g.219134255C>T	ENSP00000248450:p.Asp42Asn		Q8WUJ9|Q96H92	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D42N	ENST00000248450.4	37	c.124	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805540	0.90623	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660	T;T;T	0.58358	0.34;0.34;0.5	4.93	4.93	0.64822	.	0.051504	0.85682	D	0.000000	T	0.64692	0.2621	L	0.43923	1.385	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.72338	0.977;0.977;0.977	T	0.57974	-0.7718	10	0.22706	T	0.39	-13.6578	18.3504	0.90336	0.0:1.0:0.0:0.0	.	43;42;23	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	N	42;43;23	ENSP00000248450:D42N;ENSP00000403343:D43N;ENSP00000416394:D23N	ENSP00000248450:D42N	D	-	1	0	AAMP	218842499	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.220000	0.78008	2.567000	0.86603	0.655000	0.94253	GAC	AAMP	-	NULL		0.602	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	C	NM_001087		219134255	-1	no_errors	ENST00000248450	ensembl	human	known	70_37	missense	SNP	1.000	T	T	219134255	C	T	219134255	3	4	154	1	0	0	0	0	1	0	0	0	17	826	29	1	1220	1	AAMP	2	219134255	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	16982985	219134255	24065118	70	27488										
SCG2	7857	genome.wustl.edu	37	chr2	224463757	224463757	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagggggacagagacaccttGgtagggattataatctgggc	15	6	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr2:224463757G>C	ENST00000305409.2	-	2	476	c.244C>G	c.(244-246)Caa>Gaa	p.Q82E		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGACACCTTGGTAGGGATTA	0.448																																																	0													118	123	121					2																	224463757		2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.244C>G	2.37:g.224463757G>C	ENSP00000304133:p.Gln82Glu		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.Q82E	ENST00000305409.2	37	c.244	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414057	0.62511	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.02032	4.49;4.49;4.49	5.44	5.44	0.79542	.	0.231520	0.44688	D	0.000429	T	0.06188	0.0160	L	0.39633	1.23	0.51767	D	0.999937	P	0.50819	0.939	P	0.53809	0.735	T	0.53330	-0.8454	10	0.30078	T	0.28	.	19.6298	0.95698	0.0:0.0:1.0:0.0	.	82	P13521	SCG2_HUMAN	E	82	ENSP00000304133:Q82E;ENSP00000394702:Q82E;ENSP00000415468:Q82E	ENSP00000304133:Q82E	Q	-	1	0	SCG2	224172001	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	6.461000	0.73522	2.706000	0.92434	0.585000	0.79938	CAA	SCG2	-	pfam_Granin		0.448	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	G	NM_003469		224463757	-1	no_errors	ENST00000305409	ensembl	human	known	70_37	missense	SNP	1.000	C	C	224463757	G	C	224463757	3	2	154	1	0	0	0	0	1	0	0	0	13921	1357	47	4	1613	4	SCG2	2	224463757	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5329502	224463757	18735616	71	27489										
VGLL4	10533	genome.wustl.edu	37	chr3	11600204	11600204	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggtcgtccacggagcccgtGatggacacggagttgggtgc	17	10	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:11600204G>C	ENST00000354449.3	+	0	4959				VGLL4_ENST00000430365.2_Missense_Mutation_p.I239M|VGLL4_ENST00000424529.2_Missense_Mutation_p.I149M|VGLL4_ENST00000451674.2_Missense_Mutation_p.I153M|VGLL4_ENST00000413604.1_Missense_Mutation_p.I174M|VGLL4_ENST00000273038.3_Missense_Mutation_p.I233M|VGLL4_ENST00000404339.1_Missense_Mutation_p.I238M	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CGGAGCCCGTGATGGACACGG	0.632																																																	0													69	80	76					3																	11600204		2203	4300	6503	SO:0001628	intergenic_variant	9686			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600204G>C			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	smart_TDU_repeat	p.I239M	ENST00000354449.3	37	c.717	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	g	22.8	4.333176	0.81801	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.55413	0.52;0.58;0.56	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997	T	0.75980	-0.3126	10	0.72032	D	0.01	-38.5468	18.8719	0.92319	0.0:0.0:1.0:0.0	.	239;153;149;238;233	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	M	233;174;153;149;239;238	ENSP00000273038:I233M;ENSP00000404251:I239M;ENSP00000384705:I238M	ENSP00000273038:I233M	I	-	3	3	VGLL4	11575204	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.487000	0.66863	2.468000	0.83385	0.558000	0.71614	ATC	VGLL4	-	NULL		0.632	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL4	HGNC	protein_coding	OTTHUMT00000251951.3	G	NM_006395		11600204	-1	no_errors	ENST00000430365	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11600204	G	C	11600204	1	2	154	0	1	0	0	0	0	0	0	0	17192	1280	45	1		1	VGLL4	3	11600204	IGR	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		11600204	186422226	72	27490										
GOLGA4	2803	genome.wustl.edu	37	chr3	37343796	37343796	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cccagggagaggaattacggGaacagaaagaaaagtccgaa	13	7	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:37343796G>T	ENST00000361924.2	+	10	1581	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E425*|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	403	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGAATTACGGGAACAGAAAGA	0.388																																																	0													56	59	58					3																	37343796		2203	4300	6503	SO:0001587	stop_gained	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1207G>T	3.37:g.37343796G>T	ENSP00000354486:p.Glu403*		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.E403*	ENST00000361924.2	37	c.1207	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.696451	0.98918	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	.	.	.	5.89	5.89	0.94794	.	0.000000	0.35179	N	0.003394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	15.7106	0.77623	0.0:0.136:0.864:0.0	.	.	.	.	X	403;425;408;274	.	ENSP00000349305:E425X	E	+	1	0	GOLGA4	37318800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.884000	0.87274	2.793000	0.96121	0.655000	0.94253	GAA	GOLGA4	-	NULL		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37343796	1	no_errors	ENST00000361924	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	37343796	G	T	37343796	4	4	154	1	0	0	0	0	0	1	0	0	6574	1175	41	3	1315	3	GOLGA4	3	37343796	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	25743592	37343796	160678634	73	27491										
WDR48	57599	genome.wustl.edu	37	chr3	39116328	39116328	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttgggcgctgcaagtcaatGatgccttcacacatgtgtat	10	9	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:39116328G>A	ENST00000302313.5	+	8	812	c.784G>A	c.(784-786)Gat>Aat	p.D262N	WDR48_ENST00000396258.3_Missense_Mutation_p.D180N|WDR48_ENST00000544962.1_Missense_Mutation_p.D54N|WDR48_ENST00000418020.1_De_novo_Start_OutOfFrame	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	262					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAAGTCAATGATGCCTTCAC	0.463																																																	0													180	154	163					3																	39116328		2203	4300	6503	SO:0001583	missense	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.784G>A	3.37:g.39116328G>A	ENSP00000307491:p.Asp262Asn		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D262N	ENST00000302313.5	37	c.784	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747195	0.89663	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.60424	2.26;0.19;2.24	6.01	6.01	0.97437	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.087875	0.85682	D	0.000000	T	0.52996	0.1769	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.26041	0.13;0.068;0.029;0.14	B;B;B;B	0.35899	0.043;0.068;0.059;0.213	T	0.51356	-0.8716	10	0.59425	D	0.04	-8.9229	20.5211	0.99222	0.0:0.0:1.0:0.0	.	54;180;253;262	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	N	262;54;180	ENSP00000307491:D262N;ENSP00000445187:D54N;ENSP00000379557:D180N	ENSP00000307491:D262N	D	+	1	0	WDR48	39091332	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAT	WDR48	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.463	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	G	NM_020839		39116328	1	no_errors	ENST00000302313	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39116328	G	A	39116328	3	1	154	1	0	0	0	0	1	0	0	0	17332	1290	45	1	814	1	WDR48	3	39116328	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1772532	39116328	158906102	74	27492										
RPL29	6159	genome.wustl.edu	37	chr3	52027809	52027809	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgggtacgtttgggagcctGagctggaactgaagctgggg	18	7	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:52027809G>A	ENST00000466397.1	-	4	576	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	RPL29_ENST00000479017.1_Nonsense_Mutation_p.Q146*|RPL29_ENST00000475248.1_Nonsense_Mutation_p.Q146*|RPL29_ENST00000294189.6_Nonsense_Mutation_p.Q146*|RPL29_ENST00000495383.1_Nonsense_Mutation_p.Q146*			P47914	RL29_HUMAN	ribosomal protein L29	146					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGGGAGCCTGAGCTGGAACT	0.622																																																	0													49	60	56					3																	52027809		1670	3080	4750	SO:0001587	stop_gained	6159			U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.436C>T	3.37:g.52027809G>A	ENSP00000418868:p.Gln146*		A8K0H3|B2R4M8|Q6IPY3	Nonsense_Mutation	SNP	pfam_Ribosomal_L29e	p.Q146*	ENST00000466397.1	37	c.436	CCDS2845.1	3	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760246	0.69763	.	.	ENSG00000162244	ENST00000466397;ENST00000294189;ENST00000479017;ENST00000495383;ENST00000475248;ENST00000492277	.	.	.	4.29	3.41	0.39046	.	2.963680	0.01624	N	0.023218	.	.	.	.	.	.	0.40764	D	0.983036	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	8.3406	0.32241	0.1059:0.0:0.8941:0.0	.	.	.	.	X	146	.	ENSP00000294189:Q146X	Q	-	1	0	RPL29	52002849	0.175000	0.23083	0.642000	0.29436	0.883000	0.51084	1.594000	0.36697	1.398000	0.46701	0.655000	0.94253	CAG	RPL29	-	NULL		0.622	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL29	HGNC	protein_coding	OTTHUMT00000349680.2	G	NM_000992		52027809	-1	no_errors	ENST00000294189	ensembl	human	known	70_37	nonsense	SNP	0.491	A	A	52027809	G	A	52027809	4	1	154	1	0	0	0	0	0	1	0	0	13608	1299	45	1	47	1	RPL29	3	52027809	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	12911481	52027809	145994621	75	27493										
SFMBT1	51460	genome.wustl.edu	37	chr3	52941312	52941312	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cccttcatctgggtcatcctCatcttcacccccacttccct	3	20	6	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:52941312C>T	ENST00000394752.3	-	19	2486	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	SFMBT1_ENST00000394750.1_Missense_Mutation_p.E702K|SFMBT1_ENST00000296295.6_Missense_Mutation_p.E702K|SFMBT1_ENST00000358080.2_Missense_Mutation_p.E702K	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	702					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGGTCATCCTCATCTTCACCC	0.408																																																	0													160	140	147					3																	52941312		2203	4300	6503	SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2104G>A	3.37:g.52941312C>T	ENSP00000378235:p.Glu702Lys		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.E702K	ENST00000394752.3	37	c.2104	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219102	0.79464	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.16457	2.43;2.43;2.34;2.43	5.86	5.86	0.93980	.	0.181881	0.38720	N	0.001599	T	0.22399	0.0540	L	0.59436	1.845	0.80722	D	1	P;P	0.42692	0.787;0.682	B;B	0.41510	0.359;0.197	T	0.02805	-1.1108	10	0.11485	T	0.65	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	702;702	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	K	702	ENSP00000378235:E702K;ENSP00000350789:E702K;ENSP00000296295:E702K;ENSP00000378233:E702K	ENSP00000296295:E702K	E	-	1	0	SFMBT1	52916352	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.238000	0.78173	2.937000	0.99478	0.650000	0.86243	GAG	SFMBT1	-	NULL		0.408	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	C	NM_016329		52941312	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52941312	C	T	52941312	3	4	154	1	0	0	0	0	1	0	0	0	14187	835	29	1	508	1	SFMBT1	3	52941312	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	913503	52941312	145081118	76	27494										
C3orf64	285203	genome.wustl.edu	37	chr3	69054378	69054378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacgggaacacaccagacttGagtcactctgaaggttgagc	11	10	2	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:69054378G>A	ENST00000383701.3	-	7	1170	c.428C>T	c.(427-429)tCa>tTa	p.S143L	EOGT_ENST00000540764.1_Missense_Mutation_p.S42L|EOGT_ENST00000295571.5_Missense_Mutation_p.S143L|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	143					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										CACCAGACTTGAGTCACTCTG	0.423																																																	0													119	117	118					3																	69054378		2203	4300	6503	SO:0001583	missense	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.428C>T	3.37:g.69054378G>A	ENSP00000373206:p.Ser143Leu		A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61	p.S143L	ENST00000383701.3	37	c.428		3	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610388	0.66558	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.79287	0.4420	M	0.75264	2.295	0.80722	D	1	P;D	0.76494	0.593;0.999	B;D	0.80764	0.267;0.994	T	0.81675	-0.0825	9	0.62326	D	0.03	.	17.9497	0.89048	0.0:0.0:1.0:0.0	.	143;143	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	L	143;143;42	.	ENSP00000295571:S143L	S	-	2	0	C3orf64	69137068	1.000000	0.71417	0.976000	0.42696	0.835000	0.47333	7.322000	0.79097	2.413000	0.81919	0.585000	0.79938	TCA	EOGT	-	NULL		0.423	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	G	NM_173654		69054378	-1	no_errors	ENST00000383701	ensembl	human	known	70_37	missense	SNP	0.997	A	A	69054378	G	A	69054378	3	1	154	1	0	0	0	0	1	0	0	0	2245	1294	45	1	939	1	C3orf64	3	69054378	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	16113066	69054378	128968052	77	27495										
PROS1	5627	genome.wustl.edu	37	chr3	93624964	93624964	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tccatcttcattgcatggcaGaggactacactggtctggaa	10	10	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:93624964G>A	ENST00000394236.3	-	5	686	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	124	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTGCATGGCAGAGGACTACAC	0.348																																																	0													111	113	113					3																	93624964		2203	4300	6503	SO:0001819	synonymous_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.370C>T	3.37:g.93624964G>A			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.L124	ENST00000394236.3	37	c.370	CCDS2923.1	3																																																																																			PROS1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.348	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	G	NM_000313		93624964	-1	no_errors	ENST00000394236	ensembl	human	known	70_37	silent	SNP	0.974	A	A	93624964	G	A	93624964	2	1	154	1	0	0	0	0	0	0	0	1	12585	933	33	1		1	PROS1	3	93624964	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	24570586	93624964	104397466	78	27496										
MYH15	22989	genome.wustl.edu	37	chr3	108220642	108220642	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agtcagcattgccatgtcttCaatcatttcaaactctggag	7	10	6	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:108220642C>T	ENST00000273353.3	-	4	372	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	106	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCATGTCTTCAATCATTTCA	0.443																																																	0													137	138	138					3																	108220642		2012	4213	6225	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.316G>A	3.37:g.108220642C>T	ENSP00000273353:p.Glu106Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E106K	ENST00000273353.3	37	c.316	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.121805	0.94429	.	.	ENSG00000144821	ENST00000273353	T	0.73681	-0.77	5.34	5.34	0.76211	Myosin head, motor domain (2);	.	.	.	.	D	0.90648	0.7067	H	0.95679	3.705	0.80722	D	1	D	0.55605	0.972	D	0.75020	0.985	D	0.93218	0.6606	9	0.87932	D	0	.	18.6188	0.91313	0.0:1.0:0.0:0.0	.	106	Q9Y2K3	MYH15_HUMAN	K	106	ENSP00000273353:E106K	ENSP00000273353:E106K	E	-	1	0	MYH15	109703332	1.000000	0.71417	0.997000	0.53966	0.631000	0.37964	7.069000	0.76755	2.503000	0.84419	0.591000	0.81541	GAA	MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108220642	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108220642	C	T	108220642	3	4	154	1	0	0	0	0	1	0	0	0	10057	835	29	1	5680	1	MYH15	3	108220642	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	14595678	108220642	89801788	79	27497										
ATP6V1A	523	genome.wustl.edu	37	chr3	113513779	113513779	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtcagtatgatggctgactCtacctctagatgggctgagg	13	8	3	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:113513779C>G	ENST00000273398.3	+	9	1157	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.S317C	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	350					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ATGGCTGACTCTACCTCTAGA	0.418																																																	0													122	125	124					3																	113513779		2203	4300	6503	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1049C>G	3.37:g.113513779C>G	ENSP00000273398:p.Ser350Cys		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.S350C	ENST00000273398.3	37	c.1049	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807806	0.90623	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;D	0.83837	-1.77;-1.77	5.62	5.62	0.85841	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96834	0.9613	10	0.87932	D	0	-16.5117	19.6753	0.95930	0.0:1.0:0.0:0.0	.	350	P38606	VATA_HUMAN	C	67;350;317	ENSP00000273398:S350C;ENSP00000439874:S317C	ENSP00000273398:S350C	S	+	2	0	ATP6V1A	114996469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.648000	0.89879	0.563000	0.77884	TCT	ATP6V1A	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu		0.418	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1	C	NM_001690		113513779	1	no_errors	ENST00000273398	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113513779	C	G	113513779	3	3	154	1	0	0	0	0	1	0	0	0	1178	913	32	1	1079	1	ATP6V1A	3	113513779	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5293137	113513779	84508651	80	27498										
ZDHHC23	254887	genome.wustl.edu	37	chr3	113672893	113672893	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagggcgtgtgggtcccgttCagctggcggttcttacctgc	15	11	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:113672893C>T	ENST00000330212.3	+	3	807	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.Q164*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	170					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGGTCCCGTTCAGCTGGCGGT	0.532																																																	0													133	133	133					3																	113672893		2203	4300	6503	SO:0001587	stop_gained	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.508C>T	3.37:g.113672893C>T	ENSP00000330485:p.Gln170*		D3DN76	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q170*	ENST00000330212.3	37	c.508	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941022	0.73557	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	.	.	.	5.66	5.66	0.87406	.	0.296168	0.38959	N	0.001512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.5183	19.7359	0.96202	0.0:1.0:0.0:0.0	.	.	.	.	X	170;164	.	ENSP00000330485:Q170X	Q	+	1	0	ZDHHC23	115155583	1.000000	0.71417	0.170000	0.22879	0.331000	0.28603	5.388000	0.66249	2.672000	0.90937	0.462000	0.41574	CAG	ZDHHC23	-	NULL		0.532	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	C	NM_173570		113672893	1	no_errors	ENST00000478793	ensembl	human	known	70_37	nonsense	SNP	0.980	T	T	113672893	C	T	113672893	4	4	154	1	0	0	0	0	0	1	0	0	17644	827	29	1	514	1	ZDHHC23	3	113672893	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	159114	113672893	84349537	81	27499										
C3orf15	89876	genome.wustl.edu	37	chr3	119434565	119434565	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caggactcaatccctgagctCttgaccctggctacgcttac	8	15	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:119434565C>T	ENST00000273390.5	+	6	734	c.657C>T	c.(655-657)ctC>ctT	p.L219L	MAATS1_ENST00000463700.1_Silent_p.L219L	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	219						mitochondrion (GO:0005739)											TCCCTGAGCTCTTGACCCTGG	0.478																																																	0													129	115	120					3																	119434565		2203	4300	6503	SO:0001819	synonymous_variant	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.657C>T	3.37:g.119434565C>T			A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	superfamily_S-AdoMet_deCO2ase_core	p.L219	ENST00000273390.5	37	c.657	CCDS2994.1	3																																																																																			MAATS1	-	NULL		0.478	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	C	NM_033364		119434565	1	no_errors	ENST00000273390	ensembl	human	known	70_37	silent	SNP	0.728	T	T	119434565	C	T	119434565	2	4	154	1	0	0	0	0	0	0	0	1	2214	900	32	1		1	C3orf15	3	119434565	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5761672	119434565	78587865	82	27500										
GOLGB1	2804	genome.wustl.edu	37	chr3	121383432	121383432	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gaatgacagagtgaacgcagGactcgcttccatccaacgcc	10	13	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:121383432G>C	ENST00000340645.5	-	22	9800	c.9675C>G	c.(9673-9675)gtC>gtG	p.V3225V	GOLGB1_ENST00000393667.3_Silent_p.V3235V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3225					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGAACGCAGGACTCGCTTCC	0.483																																																	0													90	85	87					3																	121383432		2203	4300	6503	SO:0001819	synonymous_variant	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9675C>G	3.37:g.121383432G>C			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.V3225	ENST00000340645.5	37	c.9675	CCDS3004.1	3																																																																																			GOLGB1	-	NULL		0.483	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	G	NM_004487		121383432	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	silent	SNP	0.885	C	C	121383432	G	C	121383432	2	2	154	1	0	0	0	0	0	0	0	1	6584	1161	41	1		1	GOLGB1	3	121383432	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1948867	121383432	76638998	83	27501										
CCDC58	131076	genome.wustl.edu	37	chr3	122087074	122087074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacgttaaatcgtccaaattCttttctctctcttctcggag	5	11	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:122087074C>G	ENST00000291458.5	-	3	279	c.273G>C	c.(271-273)aaG>aaC	p.K91N	CCDC58_ENST00000479899.1_Missense_Mutation_p.K77N|CCDC58_ENST00000466854.1_5'Flank|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	91						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		CGTCCAAATTCTTTTCTCTCT	0.358																																																	0													91	92	91					3																	122087074		2203	4300	6503	SO:0001583	missense	131076			AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.273G>C	3.37:g.122087074C>G	ENSP00000291458:p.Lys91Asn		Q32LY6	Missense_Mutation	SNP	pfam_Caffeine_induced_death_Cid2	p.K91N	ENST00000291458.5	37	c.273	CCDS33838.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.557130|2.557130	0.45590|0.45590	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000479414|ENST00000291458;ENST00000479899	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.043747	.|0.85682	.|D	.|0.000000	T|T	0.58821|0.58821	0.2149|0.2149	M|M	0.66939|0.66939	2.045|2.045	0.49213|0.49213	D|D	0.999769|0.999769	.|B	.|0.18968	.|0.032	.|B	.|0.21917	.|0.037	T|T	0.54456|0.54456	-0.8291|-0.8291	5|9	.|0.29301	.|T	.|0.29	.|.	11.2942|11.2942	0.49269|0.49269	0.0:0.9177:0.0:0.0823|0.0:0.9177:0.0:0.0823	.|.	.|91	.|Q4VC31	.|CCD58_HUMAN	Q|N	88|91;77	.|.	.|ENSP00000291458:K91N	E|K	-|-	1|3	0|2	CCDC58|CCDC58	123569764|123569764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.519000|1.519000	0.35888|0.35888	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAA|AAG	CCDC58	-	pfam_Caffeine_induced_death_Cid2		0.358	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC58	HGNC	protein_coding	OTTHUMT00000355754.1	C	NM_001017928		122087074	-1	no_errors	ENST00000291458	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122087074	C	G	122087074	3	3	154	1	0	0	0	0	1	0	0	0	2833	912	32	1	173	1	CCDC58	3	122087074	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	703642	122087074	75935356	84	27502										
PARP9	83666	genome.wustl.edu	37	chr3	122274229	122274229	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtttcttgtcccagctcactCttccctaggatgaattctga	7	12	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:122274229C>T	ENST00000360356.2	-	4	1121	c.894G>A	c.(892-894)aaG>aaA	p.K298K	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Silent_p.K263K|PARP9_ENST00000471785.1_Silent_p.K263K|PARP9_ENST00000462315.1_Silent_p.K263K	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	298					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCAGCTCACTCTTCCCTAGGA	0.473																																																	0													170	166	168					3																	122274229		2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.894G>A	3.37:g.122274229C>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K298	ENST00000360356.2	37	c.894	CCDS3014.1	3																																																																																			PARP9	-	NULL		0.473	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	C	NM_031458		122274229	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	silent	SNP	0.000	T	T	122274229	C	T	122274229	2	4	154	1	0	0	0	0	0	0	0	1	11490	912	32	1		1	PARP9	3	122274229	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	187155	122274229	75748201	85	27503										
COL6A5	256076	genome.wustl.edu	37	chr3	130107629	130107629	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atagatattttacacagcaaGaaatttctgatgcaatagat	6	5	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:130107629G>C	ENST00000432398.2	+	6	2562	c.2068G>C	c.(2068-2070)Gaa>Caa	p.E690Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.E690Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	690	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACACAGCAAGAAATTTCTGA	0.363																																																	0													53	46	48					3																	130107629		692	1590	2282	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2068G>C	3.37:g.130107629G>C	ENSP00000390895:p.Glu690Gln		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E690Q	ENST00000432398.2	37	c.2068		3	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053977	0.36277	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.84370	-1.84;-1.84	5.46	5.46	0.80206	.	.	.	.	.	D	0.88833	0.6544	L	0.49699	1.58	0.36598	D	0.874494	P	0.49635	0.926	P	0.58210	0.835	D	0.89542	0.3793	9	0.36615	T	0.2	.	18.0925	0.89479	0.0:0.0:1.0:0.0	.	690	A8TX70-2	.	Q	690	ENSP00000390895:E690Q;ENSP00000265379:E690Q	ENSP00000265379:E690Q	E	+	1	0	COL6A5	131590319	1.000000	0.71417	0.323000	0.25347	0.374000	0.29953	6.277000	0.72608	2.563000	0.86464	0.557000	0.71058	GAA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.363	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130107629	1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.909	C	C	130107629	G	C	130107629	3	2	154	1	0	0	0	0	1	0	0	0	3707	943	33	1	2086	1	COL6A5	3	130107629	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7833400	130107629	67914801	86	27504										
ESYT3	83850	genome.wustl.edu	37	chr3	138193129	138193129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtctacttgttgccagaaagGaagtgggcatgtcgtaagaa	13	6	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:138193129G>C	ENST00000389567.4	+	20	2589	c.2403G>C	c.(2401-2403)agG>agC	p.R801S	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	801	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Required for phosphatidylinositol 4,5- bisphosphate-dependent location at the cell membrane. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGCCAGAAAGGAAGTGGGCAT	0.488																																																	0													152	155	154					3																	138193129		1985	4156	6141	SO:0001583	missense	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2403G>C	3.37:g.138193129G>C	ENSP00000374218:p.Arg801Ser		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.R801S	ENST00000389567.4	37	c.2403	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883024	0.72410	.	.	ENSG00000158220	ENST00000389567	T	0.69306	-0.39	4.95	3.12	0.35913	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.277486	0.30134	N	0.010331	T	0.70815	0.3267	L	0.45352	1.415	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.70651	-0.4813	10	0.72032	D	0.01	-12.2674	9.5793	0.39477	0.1744:0.0:0.8256:0.0	.	801	A0FGR9	ESYT3_HUMAN	S	801	ENSP00000374218:R801S	ENSP00000374218:R801S	R	+	3	2	ESYT3	139675819	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.741000	0.38238	0.647000	0.30713	0.655000	0.94253	AGG	ESYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.488	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	G	NM_031913		138193129	1	no_errors	ENST00000389567	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138193129	G	C	138193129	3	2	154	1	0	0	0	0	1	0	0	0	5278	1165	41	1	2481	1	ESYT3	3	138193129	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	8085500	138193129	59829301	87	27505										
ESYT3	83850	genome.wustl.edu	37	chr3	138195122	138195122	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggtcactagatgttgcagtGaaaaatagtaggccacttgg	12	6	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:138195122G>A	ENST00000389567.4	+	21	2712	c.2526G>A	c.(2524-2526)gtG>gtA	p.V842V	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	842	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATGTTGCAGTGAAAAATAGTA	0.353																																																	0													125	118	120					3																	138195122		1841	4096	5937	SO:0001819	synonymous_variant	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2526G>A	3.37:g.138195122G>A			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.V842	ENST00000389567.4	37	c.2526	CCDS3101.2	3																																																																																			ESYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.353	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	G	NM_031913		138195122	1	no_errors	ENST00000389567	ensembl	human	known	70_37	silent	SNP	0.998	A	A	138195122	G	A	138195122	2	1	154	1	0	0	0	0	0	0	0	1	5278	1277	45	1		1	ESYT3	3	138195122	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1993	138195122	59827308	88	27506										
RARRES1	5918	genome.wustl.edu	37	chr3	158428576	158428576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttcagttgcttcatttgcttGtaaagcaggtaatcctcttg	8	8	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:158428576G>A	ENST00000237696.5	-	3	766	c.486C>T	c.(484-486)taC>taT	p.Y162Y	RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Silent_p.Y162Y	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	162					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCATTTGCTTGTAAAGCAGGT	0.368																																																	0													160	149	153					3																	158428576		2203	4300	6503	SO:0001819	synonymous_variant	5918			U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"latexin-like"	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.486C>T	3.37:g.158428576G>A			Q8N1D7	Silent	SNP	pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin	p.Y162	ENST00000237696.5	37	c.486	CCDS3184.1	3																																																																																			RARRES1	-	pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin		0.368	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARRES1	HGNC	protein_coding	OTTHUMT00000352358.1	G			158428576	-1	no_errors	ENST00000237696	ensembl	human	known	70_37	silent	SNP	0.966	A	A	158428576	G	A	158428576	2	1	154	1	0	0	0	0	0	0	0	1	13085	1372	48	4		4	RARRES1	3	158428576	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	20233454	158428576	39593854	89	27507										
SI	6476	genome.wustl.edu	37	chr3	164750342	164750342	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atcataagtgaaattggaatGagcgttcattggttgattat	10	3	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:164750342G>C	ENST00000264382.3	-	24	2766	c.2704C>G	c.(2704-2706)Cat>Gat	p.H902D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	902	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAATTGGAATGAGCGTTCATT	0.318										HNSCC(35;0.089)																																							0													154	147	149					3																	164750342		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2704C>G	3.37:g.164750342G>C	ENSP00000264382:p.His902Asp		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.H902D	ENST00000264382.3	37	c.2704	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	1.132	-0.652191	0.03480	.	.	ENSG00000090402	ENST00000264382	T	0.13307	2.6	4.88	1.88	0.25563	.	0.556435	0.19584	N	0.110800	T	0.09512	0.0234	L	0.48642	1.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35425	-0.9789	10	0.13108	T	0.6	.	4.8891	0.13717	0.0856:0.1472:0.6158:0.1513	.	902	P14410	SUIS_HUMAN	D	902	ENSP00000264382:H902D	ENSP00000264382:H902D	H	-	1	0	SI	166233036	0.026000	0.19158	0.002000	0.10522	0.005000	0.04900	1.479000	0.35453	0.748000	0.32831	0.655000	0.94253	CAT	SI	-	NULL		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164750342	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.001	C	C	164750342	G	C	164750342	3	2	154	1	0	0	0	0	1	0	0	0	14327	1290	45	1	2879	1	SI	3	164750342	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6321766	164750342	33272088	90	27508										
YEATS2	55689	genome.wustl.edu	37	chr3	183479900	183479900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcaaggtgatcatcaaacagGaacctggtgaagcccctcac	10	12	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:183479900G>A	ENST00000305135.5	+	15	1975	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	594					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCAAACAGGAACCTGGTGA	0.473																																																	0													75	81	79					3																	183479900		1953	4155	6108	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1780G>A	3.37:g.183479900G>A	ENSP00000306983:p.Glu594Lys		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.E594K	ENST00000305135.5	37	c.1780	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.469828	0.96274	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.28069	1.63	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.43245	-0.9403	10	0.72032	D	0.01	-29.2232	19.9928	0.97374	0.0:0.0:1.0:0.0	.	594	Q9ULM3	YETS2_HUMAN	K	594	ENSP00000306983:E594K	ENSP00000306983:E594K	E	+	1	0	YEATS2	184962594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.884000	0.92432	2.745000	0.94114	0.650000	0.86243	GAA	YEATS2	-	NULL		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	G	NM_018023		183479900	1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183479900	G	A	183479900	3	1	154	1	0	0	0	0	1	0	0	0	17503	1175	41	1	1834	1	YEATS2	3	183479900	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	18729558	183479900	14542530	91	27509										
EPHB3	2049	genome.wustl.edu	37	chr3	184297318	184297318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttacctacgaggaccctaatGaggctgttcgggagtttgcc	12	10	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:184297318G>A	ENST00000330394.2	+	10	2307	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	619					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGACCCTAATGAGGCTGTTCG	0.547																																																	0													83	78	80					3																	184297318		2203	4300	6503	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1855G>A	3.37:g.184297318G>A	ENSP00000332118:p.Glu619Lys		Q7Z740	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E619K	ENST00000330394.2	37	c.1855	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901636	0.92035	.	.	ENSG00000182580	ENST00000330394	T	0.11063	2.81	4.81	4.81	0.61882	Protein kinase-like domain (1);	0.054833	0.64402	D	0.000001	T	0.24661	0.0598	M	0.83483	2.645	0.80722	D	1	P	0.47762	0.9	P	0.46419	0.516	T	0.08351	-1.0726	10	0.54805	T	0.06	.	17.2655	0.87085	0.0:0.0:1.0:0.0	.	619	P54753	EPHB3_HUMAN	K	619	ENSP00000332118:E619K	ENSP00000332118:E619K	E	+	1	0	EPHB3	185780012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.859000	0.99545	2.393000	0.81446	0.551000	0.68910	GAG	EPHB3	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.547	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184297318	1	no_errors	ENST00000330394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184297318	G	A	184297318	3	1	154	1	0	0	0	0	1	0	0	0	5188	1291	45	1	1893	1	EPHB3	3	184297318	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	817418	184297318	13725112	92	27510										
EIF4A2	1974	genome.wustl.edu	37	chr3	186502834	186502834	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcctgcaacagttggagattGagttcaaggagacccaagca	11	9	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr3:186502834G>T	ENST00000323963.5	+	4	356	c.292G>T	c.(292-294)Gag>Tag	p.E98*	RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Nonsense_Mutation_p.E99*|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Intron			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	98	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTTGGAGATTGAGTTCAAGGA	0.443			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													180	169	173					3																	186502834		2203	4300	6503	SO:0001587	stop_gained	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.292G>T	3.37:g.186502834G>T	ENSP00000326381:p.Glu98*		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E99*	ENST00000323963.5	37	c.295	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.796724	0.96952	.	.	ENSG00000156976	ENST00000445596;ENST00000323963;ENST00000440191	.	.	.	4.7	4.7	0.59300	.	0.105526	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.2573	15.5195	0.75854	0.0:0.0:1.0:0.0	.	.	.	.	X	98;98;99	.	ENSP00000326381:E98X	E	+	1	0	EIF4A2	187985528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	2.592000	0.87571	0.585000	0.79938	GAG	EIF4A2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186502834	1	no_errors	ENST00000440191	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	186502834	G	T	186502834	4	4	154	1	0	0	0	0	0	1	0	0	5037	1291	45	3	306	3	EIF4A2	3	186502834	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2205516	186502834	11519596	93	27511										
MYL5	4636	genome.wustl.edu	37	chr4	672505	672505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccgggcccagagagcctcatCcaatgtcttctccaactttg	8	15	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:672505C>T	ENST00000400159.2	+	2	167	c.62C>T	c.(61-63)tCc>tTc	p.S21F	MYL5_ENST00000506838.1_5'UTR|MYL5_ENST00000511290.1_5'UTR|MYL5_ENST00000505477.1_5'UTR	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	21					regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						AGAGCCTCATCCAATGTCTTC	0.612																																																	0													39	51	48					4																	672505		1955	4179	6134	SO:0001583	missense	4636				CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"Myosins / Light chain", "EF-hand domain containing"	7586	protein-coding gene	gene with protein product		160782	"myosin, light polypeptide 5, regulatory"			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.62C>T	4.37:g.672505C>T	ENSP00000383023:p.Ser21Phe		Q8IXL8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S21F	ENST00000400159.2	37	c.62	CCDS43197.1	4	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135647	0.37728	.	.	ENSG00000215375	ENST00000400159;ENST00000507804	T;T	0.77489	-0.93;-1.1	4.15	2.39	0.29439	EF-hand-like domain (1);	0.000000	0.31199	U	0.008063	D	0.83885	0.5351	M	0.84846	2.72	0.29435	N	0.85957	D	0.54964	0.969	P	0.55713	0.782	T	0.79645	-0.1717	10	0.87932	D	0	.	8.3426	0.32252	0.0:0.8083:0.0:0.1917	.	21	Q02045	MYL5_HUMAN	F	21;26	ENSP00000383023:S21F;ENSP00000427317:S26F	ENSP00000383023:S21F	S	+	2	0	MYL5	662505	0.996000	0.38824	0.014000	0.15608	0.496000	0.33645	2.134000	0.42102	0.327000	0.23409	0.591000	0.81541	TCC	MYL5	-	NULL		0.612	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL5	HGNC	protein_coding	OTTHUMT00000358570.2	C	NM_002477		672505	1	no_errors	ENST00000400159	ensembl	human	known	70_37	missense	SNP	0.999	T	T	672505	C	T	672505	3	4	154	1	0	0	0	0	1	0	0	0	10073	855	30	1	68	1	MYL5	4	672505	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		672505	190481771	94	27512										
EVC2	132884	genome.wustl.edu	37	chr4	5624319	5624319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgctcctctgtcacggcctCaggagcgtcatccttcagtc	9	16	5	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:5624319C>T	ENST00000344408.5	-	14	2499	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K	EVC2_ENST00000344938.1_Missense_Mutation_p.E816K|EVC2_ENST00000310917.2_Missense_Mutation_p.E736K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	816					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTCACGGCCTCAGGAGCGTCA	0.637																																																	0													83	51	62					4																	5624319		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2446G>A	4.37:g.5624319C>T	ENSP00000342144:p.Glu816Lys		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.E816K	ENST00000344408.5	37	c.2446	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657740	0.47467	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75704	-0.96;-0.96;-0.96	5.44	5.44	0.79542	.	1.420270	0.03805	N	0.264989	T	0.76307	0.3969	L	0.51422	1.61	0.43896	D	0.996522	P	0.48503	0.911	P	0.46362	0.514	T	0.63404	-0.6645	10	0.30078	T	0.28	-34.549	11.6772	0.51436	0.0:0.9193:0.0:0.0807	.	816	Q86UK5	LBN_HUMAN	K	816;736;816	ENSP00000339954:E816K;ENSP00000311683:E736K;ENSP00000342144:E816K	ENSP00000311683:E736K	E	-	1	0	EVC2	5675220	0.979000	0.34478	0.917000	0.36280	0.003000	0.03518	2.935000	0.48963	2.549000	0.85964	0.462000	0.41574	GAG	EVC2	-	NULL		0.637	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	C	NM_147127		5624319	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	missense	SNP	0.973	T	T	5624319	C	T	5624319	3	4	154	1	0	0	0	0	1	0	0	0	5298	835	29	1	1516	1	EVC2	4	5624319	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4951814	5624319	185529957	95	27513										
EVC	2121	genome.wustl.edu	37	chr4	5755658	5755658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgacccggaaaagtttctcGaggtgactcacatccccagc	9	14	2	2	rs146232611		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:5755658G>A	ENST00000264956.6	+	10	1646	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	EVC_ENST00000509451.1_Missense_Mutation_p.E488K|EVC_ENST00000382674.2_Missense_Mutation_p.E488K	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	488					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAAGTTTCTCGAGGTGACTCA	0.592													A|||	1	0.000199681	0	0	5008	,	,		18621	0		0	False		,,,				2504	0.001																0								A	LYS/GLU	0,4406		0,0,2203	50	50	50		1462	-0.1	0.9	4	dbSNP_134	50	1,8599	819.2+/-406.8	0,1,4299	no	missense	EVC	NM_153717.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	488/993	5755658	1,13005	2203	4300	6503	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1462G>A	4.37:g.5755658G>A	ENSP00000264956:p.Glu488Lys			Missense_Mutation	SNP	NULL	p.E488K	ENST00000264956.6	37	c.1462	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.211044	0.01555	0.0	1.16E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.39592	1.07;1.07;1.12	4.94	-0.104	0.13605	.	0.206604	0.39759	N	0.001263	T	0.09113	0.0225	N	0.00483	-1.445	0.54753	D	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	10	0.02654	T	1	.	6.7386	0.23422	0.3587:0.4668:0.1745:0.0	.	488	P57679	EVC_HUMAN	K	488	ENSP00000264956:E488K;ENSP00000372120:E488K;ENSP00000426774:E488K	ENSP00000264956:E488K	E	+	1	0	EVC	5806559	0.198000	0.23374	0.860000	0.33809	0.041000	0.13682	0.321000	0.19558	-0.257000	0.09459	-0.361000	0.07541	GAG	EVC	-	NULL		0.592	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	G			5755658	1	no_errors	ENST00000264956	ensembl	human	known	70_37	missense	SNP	0.304	A	A	5755658	G	A	5755658	3	1	154	1	0	0	0	0	1	0	0	0	5297	1059	37	1	1500	1	EVC	4	5755658	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	131339	5755658	185398618	96	27514										
UGT2A3	79799	genome.wustl.edu	37	chr4	69816797	69816797	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ataaaactcttcccaaaaatGatagtcgtaatcctgaatcc	4	10	1	2	rs371911179		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:69816797G>A	ENST00000251566.4	-	1	712	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	228					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCCAAAAATGATAGTCGTAA	0.299																																																	0													41	43	42					4																	69816797		2197	4298	6495	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.682C>T	4.37:g.69816797G>A	ENSP00000251566:p.His228Tyr		Q9H6S4	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H228Y	ENST00000251566.4	37	c.682	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586157	0.28268	.	.	ENSG00000135220	ENST00000251566	T	0.59364	0.27	4.44	-5.98	0.02220	.	1.449290	0.04135	N	0.318590	T	0.36580	0.0972	N	0.04508	-0.205	0.09310	N	0.999998	P	0.48407	0.91	P	0.47827	0.558	T	0.41875	-0.9484	10	0.72032	D	0.01	.	4.233	0.10613	0.1369:0.0854:0.2529:0.5248	.	228	Q6UWM9	UD2A3_HUMAN	Y	228	ENSP00000251566:H228Y	ENSP00000251566:H228Y	H	-	1	0	UGT2A3	69851386	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.836000	0.00740	-1.563000	0.01680	-1.273000	0.01405	CAT	UGT2A3	-	pfam_UDP_glucos_trans		0.299	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	G	NM_024743		69816797	-1	no_errors	ENST00000251566	ensembl	human	known	70_37	missense	SNP	0.000	A	A	69816797	G	A	69816797	3	1	154	1	0	0	0	0	1	0	0	0	16986	1290	45	1	925	1	UGT2A3	4	69816797	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	64061139	69816797	121337479	97	27515										
UGT2B11	10720	genome.wustl.edu	37	chr4	70080248	70080248	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agtggatgcatcattgggatCaaaaagaatggaagctgaag	13	4	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:70080248C>T	ENST00000446444.1	-	1	201	c.193G>A	c.(193-195)Gat>Aat	p.D65N	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	65					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCATTGGGATCAAAAAGAATG	0.373																																																	0													56	64	62					4																	70080248		2195	4279	6474	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.193G>A	4.37:g.70080248C>T	ENSP00000387683:p.Asp65Asn		Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D65N	ENST00000446444.1	37	c.193	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	1.772	-0.484147	0.04383	.	.	ENSG00000213759	ENST00000446444	T	0.60171	0.21	1.96	1.96	0.26148	.	0.265381	0.30483	U	0.009525	T	0.48409	0.1498	L	0.55834	1.745	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.43458	-0.9390	10	0.39692	T	0.17	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	65	O75310	UDB11_HUMAN	N	65	ENSP00000387683:D65N	ENSP00000387683:D65N	D	-	1	0	UGT2B11	70114837	0.000000	0.05858	0.185000	0.23176	0.170000	0.22686	0.066000	0.14489	1.087000	0.41251	0.184000	0.17185	GAT	UGT2B11	-	pfam_UDP_glucos_trans		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70080248	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	missense	SNP	0.270	T	T	70080248	C	T	70080248	3	4	154	1	0	0	0	0	1	0	0	0	16988	826	29	1	1420	1	UGT2B11	4	70080248	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	263451	70080248	121074028	98	27516										
FRAS1	80144	genome.wustl.edu	37	chr4	79343130	79343130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggcagcaccccacctccagGagctcatggccttctcgttc	9	18	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:79343130G>A	ENST00000325942.6	+	34	5094	c.4654G>A	c.(4654-4656)Gag>Aag	p.E1552K	FRAS1_ENST00000264895.6_Missense_Mutation_p.E1552K	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1552					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACCTCCAGGAGCTCATGGC	0.582																																																	0													116	128	124					4																	79343130		2061	4186	6247	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4654G>A	4.37:g.79343130G>A	ENSP00000326330:p.Glu1552Lys		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E1552K	ENST00000325942.6	37	c.4654	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.634536	0.96682	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.56776	0.44;0.44	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.937;0.998	T	0.75056	-0.3452	10	0.72032	D	0.01	.	19.4277	0.94751	0.0:0.0:1.0:0.0	.	1552;1552	E9PHH6;A2RRR8	.;.	K	1552	ENSP00000326330:E1552K;ENSP00000264895:E1552K	ENSP00000264895:E1552K	E	+	1	0	FRAS1	79562154	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.329000	0.90017	2.686000	0.91538	0.591000	0.81541	GAG	FRAS1	-	NULL		0.582	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	G			79343130	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79343130	G	A	79343130	3	1	154	1	0	0	0	0	1	0	0	0	6060	1175	41	1	4788	1	FRAS1	4	79343130	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	9262882	79343130	111811146	99	27517										
HSD17B11	51170	genome.wustl.edu	37	chr4	88295859	88295859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agccatactcacccagaaatGtgcaagtacattaacttcaa	5	11	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:88295859G>A	ENST00000358290.4	-	3	757	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	HSD17B11_ENST00000507286.1_Intron|HSD17B11_ENST00000507518.1_5'Flank	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	148					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACCCAGAAATGTGCAAGTACA	0.323																																																	0													102	111	108					4																	88295859		2202	4300	6502	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.442C>T	4.37:g.88295859G>A	ENSP00000351035:p.His148Tyr		Q96HF6|Q9UKU4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.H148Y	ENST00000358290.4	37	c.442	CCDS3619.1	4	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460561	0.84317	.	.	ENSG00000198189	ENST00000358290	D	0.87256	-2.23	5.42	5.42	0.78866	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92748	0.6213	10	0.66056	D	0.02	.	17.9887	0.89162	0.0:0.0:1.0:0.0	.	148	Q8NBQ5	DHB11_HUMAN	Y	148	ENSP00000351035:H148Y	ENSP00000351035:H148Y	H	-	1	0	HSD17B11	88514883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.501000	0.73691	2.532000	0.85374	0.655000	0.94253	CAT	HSD17B11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.323	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	G	NM_016245		88295859	-1	no_errors	ENST00000358290	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88295859	G	A	88295859	3	1	154	1	0	0	0	0	1	0	0	0	7400	1377	48	4	480	4	HSD17B11	4	88295859	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	8952729	88295859	102858417	100	27518										
GRID2	2895	genome.wustl.edu	37	chr4	94145869	94145869	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atggcaagtctgtcatgtatCagaaagaactcaaagccctg	9	9	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:94145869C>G	ENST00000282020.4	+	7	1326	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	GRID2_ENST00000510992.1_Missense_Mutation_p.I261M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	356					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGTCATGTATCAGAAAGAACT	0.428																																																	0													73	72	72					4																	94145869		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1068C>G	4.37:g.94145869C>G	ENSP00000282020:p.Ile356Met		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I356M	ENST00000282020.4	37	c.1068	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184455	0.38609	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	T;T	0.12984	2.69;2.63	5.53	4.68	0.58851	Extracellular ligand-binding receptor (1);	0.055575	0.64402	D	0.000001	T	0.22085	0.0532	N	0.16903	0.455	0.58432	D	0.999992	D;D;D	0.69078	0.985;0.985;0.997	P;P;D	0.68621	0.883;0.883;0.959	T	0.06917	-1.0800	10	0.56958	D	0.05	.	15.7514	0.77989	0.1375:0.8625:0.0:0.0	.	261;356;261	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	M	356;261;37	ENSP00000282020:I356M;ENSP00000421257:I261M	ENSP00000282020:I356M	I	+	3	3	GRID2	94364892	1.000000	0.71417	0.991000	0.47740	0.684000	0.39900	1.308000	0.33528	1.312000	0.45043	-0.182000	0.12963	ATC	GRID2	-	pfam_ANF_lig-bd_rcpt		0.428	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	C			94145869	1	no_errors	ENST00000282020	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94145869	C	G	94145869	3	3	154	1	0	0	0	0	1	0	0	0	6792	816	29	1	1094	1	GRID2	4	94145869	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5850010	94145869	97008407	101	27519										
ADH1B	125	genome.wustl.edu	37	chr4	100237074	100237074	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccttggcaacgttaactgcaGacccataaccagtcgagaat	8	12	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:100237074G>C	ENST00000305046.8	-	5	615	c.548C>G	c.(547-549)tCt>tGt	p.S183C	ADH1B_ENST00000394887.3_Missense_Mutation_p.S143C|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	183					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GTTAACTGCAGACCCATAACC	0.478																																																	0													119	115	116					4																	100237074		2203	4300	6503	SO:0001583	missense	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.548C>G	4.37:g.100237074G>C	ENSP00000306606:p.Ser183Cys		A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.S183C	ENST00000305046.8	37	c.548	CCDS34033.1	4	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869734	0.51588	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.32753	1.44;1.44	3.96	3.1	0.35709	GroES-like (1);	0.052193	0.85682	D	0.000000	T	0.57036	0.2026	M	0.91972	3.26	0.43000	D	0.994518	B;P;P	0.44690	0.421;0.841;0.585	P;P;P	0.55112	0.659;0.769;0.64	T	0.66929	-0.5799	10	0.87932	D	0	-24.9955	13.3126	0.60388	0.0:0.1602:0.8397:0.0	.	170;143;183	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	C	183;143;170	ENSP00000306606:S183C;ENSP00000378351:S143C	ENSP00000306606:S183C	S	-	2	0	ADH1B	100456097	1.000000	0.71417	0.956000	0.39512	0.611000	0.37282	8.876000	0.92379	0.598000	0.29829	0.561000	0.74099	TCT	ADH1B	-	superfamily_GroES-like,smart_PKS_ER		0.478	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1B	HGNC	protein_coding	OTTHUMT00000364853.1	G	NM_000668		100237074	-1	no_errors	ENST00000305046	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100237074	G	C	100237074	3	2	154	1	0	0	0	0	1	0	0	0	308	942	33	1	599	1	ADH1B	4	100237074	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6091205	100237074	90917202	102	27520										
CENPE	1062	genome.wustl.edu	37	chr4	104067180	104067180	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atctttgggtttgaattgctCcatctcactcacgattttgg	8	9	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:104067180C>A	ENST00000265148.3	-	30	4308	c.4219G>T	c.(4219-4221)Gag>Tag	p.E1407*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1382*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1407					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E1407*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAATTGCTCCATCTCACTC	0.348																																																	1	Substitution - Nonsense(1)	lung(1)											158	141	147					4																	104067180		2203	4300	6503	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4219G>T	4.37:g.104067180C>A	ENSP00000265148:p.Glu1407*		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1407*	ENST00000265148.3	37	c.4219	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	43	9.902241	0.99292	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	4.75	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.4131	0.49937	0.0:0.9136:0.0:0.0864	.	.	.	.	X	1407;1407;1382	.	ENSP00000265148:E1407X	E	-	1	0	CENPE	104286629	0.075000	0.21258	0.269000	0.24586	0.750000	0.42670	1.686000	0.37669	1.118000	0.41863	0.643000	0.83706	GAG	CENPE	-	NULL		0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104067180	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	nonsense	SNP	0.995	A	A	104067180	C	A	104067180	4	1	154	1	0	0	0	0	0	1	0	0	3235	864	30	3	3966	3	CENPE	4	104067180	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3830106	104067180	87087096	103	27521										
ADAD1	132612	genome.wustl.edu	37	chr4	123317485	123317485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actaatttctaatcgttcagAatacctgaaatatagcagtt	5	7	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:123317485A>G	ENST00000296513.2	+	7	862	c.677A>G	c.(676-678)gAa>gGa	p.E226G	ADAD1_ENST00000388725.2_Missense_Mutation_p.E208G|ADAD1_ENST00000388724.2_Missense_Mutation_p.E226G|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	226					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATCGTTCAGAATACCTGAAA	0.269																																																	0													52	58	56					4																	123317485		2201	4291	6492	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.677A>G	4.37:g.123317485A>G	ENSP00000296513:p.Glu226Gly		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.E226G	ENST00000296513.2	37	c.677	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038925	0.55003	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.34275	1.4;1.39;1.37	5.9	5.9	0.94986	Adenosine deaminase/editase (1);	0.213266	0.47455	D	0.000235	T	0.37100	0.0991	L	0.53249	1.67	0.42535	D	0.99305	B;B	0.14012	0.007;0.009	B;B	0.15052	0.012;0.007	T	0.12243	-1.0555	10	0.48119	T	0.1	-3.0869	15.3185	0.74102	1.0:0.0:0.0:0.0	.	226;226	Q96M93-2;Q96M93	.;ADAD1_HUMAN	G	226;226;226;208	ENSP00000296513:E226G;ENSP00000373376:E226G;ENSP00000373377:E208G	ENSP00000296513:E226G	E	+	2	0	ADAD1	123536935	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.671000	0.54576	2.260000	0.74910	0.533000	0.62120	GAA	ADAD1	-	smart_A_deamin		0.269	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	A	NM_139243		123317485	1	no_errors	ENST00000296513	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123317485	A	G	123317485	3	3	154	1	0	0	0	0	1	0	0	0	231	246	9	5	695	5	ADAD1	4	123317485	Missense_Mutation	SNP	A	TCGA-IR-A3LL-01A-11D-A20U-09	19250305	123317485	67836791	104	27522										
FSTL5	56884	genome.wustl.edu	37	chr4	162380377	162380377	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tacttacctgtagtgttggtGatgtcttctccaaggtaccc	9	10	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:162380377G>A	ENST00000306100.5	-	14	2139	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	FSTL5_ENST00000427802.2_Missense_Mutation_p.S558L|FSTL5_ENST00000536695.1_Missense_Mutation_p.S567L|FSTL5_ENST00000379164.4_Missense_Mutation_p.S567L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	568						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGTGTTGGTGATGTCTTCTC	0.373																																																	0													136	124	128					4																	162380377		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1703C>T	4.37:g.162380377G>A	ENSP00000305334:p.Ser568Leu		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.S568L	ENST00000306100.5	37	c.1703	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	g	11.05	1.524263	0.27299	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);	0.253509	0.40064	N	0.001190	T	0.27205	0.0667	L	0.47716	1.5	0.32058	N	0.596096	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.16305	-1.0407	10	0.23302	T	0.38	.	13.4386	0.61099	0.0783:0.0:0.9217:0.0	.	558;567;568	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	568;567;558;567	ENSP00000305334:S568L;ENSP00000368462:S567L;ENSP00000389270:S558L;ENSP00000440409:S567L	ENSP00000305334:S568L	S	-	2	0	FSTL5	162599827	1.000000	0.71417	0.554000	0.28268	0.829000	0.46940	4.032000	0.57274	2.567000	0.86603	0.645000	0.84053	TCA	FSTL5	-	NULL		0.373	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	G	NM_020116		162380377	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	0.857	A	A	162380377	G	A	162380377	3	1	154	1	0	0	0	0	1	0	0	0	6098	1294	45	1	852	1	FSTL5	4	162380377	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	39062892	162380377	28773899	105	27523										
ENPP6	133121	genome.wustl.edu	37	chr4	185074749	185074749	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttccttttggccttggtcaGagtgacccacagaggttctg	11	11	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:185074749G>A	ENST00000296741.2	-	2	520	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	127					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GCCTTGGTCAGAGTGACCCAC	0.488																																																	0													134	113	120					4																	185074749		2203	4300	6503	SO:0001819	synonymous_variant	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.379C>T	4.37:g.185074749G>A			Q4W5Q1|Q96M57	Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L127	ENST00000296741.2	37	c.379	CCDS3834.1	4																																																																																			ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.488	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	G	NM_153343		185074749	-1	no_errors	ENST00000296741	ensembl	human	known	70_37	silent	SNP	0.997	A	A	185074749	G	A	185074749	2	1	154	1	0	0	0	0	0	0	0	1	5146	933	33	1		1	ENPP6	4	185074749	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	22694372	185074749	6079527	106	27524										
SORBS2	8470	genome.wustl.edu	37	chr4	186578742	186578742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgcatgctggggatatgtgtCtgtggaatctgcacagaaaa	13	7	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr4:186578742C>T	ENST00000284776.7	-	6	612	c.103G>A	c.(103-105)Gac>Aac	p.D35N	SORBS2_ENST00000355634.5_Missense_Mutation_p.D135N|SORBS2_ENST00000437304.2_Missense_Mutation_p.D214N|SORBS2_ENST00000393528.3_Missense_Mutation_p.D81N|SORBS2_ENST00000449407.2_Missense_Mutation_p.D121N|SORBS2_ENST00000448662.2_Missense_Mutation_p.D104N|SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000431808.1_Missense_Mutation_p.D35N|SORBS2_ENST00000319471.9_Missense_Mutation_p.D121N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	35					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGATATGTGTCTGTGGAATCT	0.453																																					Esophageal Squamous(153;41 2433 9491 36028)												0													97	97	97					4																	186578742		2203	4300	6503	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.103G>A	4.37:g.186578742C>T	ENSP00000284776:p.Asp35Asn		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D35N	ENST00000284776.7	37	c.103	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024802	0.35701	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343;ENST00000439914;ENST00000444771;ENST00000430503;ENST00000450341;ENST00000445115;ENST00000457247;ENST00000456596;ENST00000425679;ENST00000439049;ENST00000451958;ENST00000444781	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.88	4.88	0.63580	.	0.238773	0.42420	D	0.000710	T	0.20129	0.0484	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.30361	0.034;0.083;0.101;0.119;0.05;0.05;0.087;0.181;0.01;0.277;0.016;0.016	B;B;B;B;B;B;B;B;B;B;B;B	0.29267	0.043;0.07;0.079;0.1;0.021;0.016;0.031;0.069;0.009;0.046;0.093;0.047	T	0.13953	-1.0490	10	0.66056	D	0.02	-14.614	18.5848	0.91185	0.0:1.0:0.0:0.0	.	98;81;104;81;135;35;121;214;104;81;35;81	B7Z3D7;G3XAI0;C9JKV9;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	N	35;104;35;214;121;121;135;81;81;35;35;35;81;35;35;35;35;104;104;104;98	ENSP00000284776:D35N;ENSP00000409158:D104N;ENSP00000411764:D35N;ENSP00000396008:D214N;ENSP00000322182:D121N;ENSP00000397262:D121N;ENSP00000347852:D135N;ENSP00000377162:D81N;ENSP00000321983:D81N;ENSP00000399048:D35N;ENSP00000408909:D35N;ENSP00000410483:D35N;ENSP00000405349:D81N;ENSP00000415680:D35N;ENSP00000397664:D35N;ENSP00000398335:D35N;ENSP00000410967:D35N;ENSP00000415637:D104N;ENSP00000416464:D104N;ENSP00000405092:D104N;ENSP00000396183:D98N	ENSP00000284776:D35N	D	-	1	0	SORBS2	186815736	1.000000	0.71417	0.121000	0.21740	0.122000	0.20287	4.625000	0.61262	2.697000	0.92050	0.563000	0.77884	GAC	SORBS2	-	NULL		0.453	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	C	NM_003603		186578742	-1	no_errors	ENST00000284776	ensembl	human	known	70_37	missense	SNP	0.993	T	T	186578742	C	T	186578742	3	4	154	1	0	0	0	0	1	0	0	0	14958	913	32	1	3603	1	SORBS2	4	186578742	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1503993	186578742	4575534	107	27525										
CDH10	1008	genome.wustl.edu	37	chr5	24487903	24487903	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttctaatgaactcagagattCagcaatggaatcatttcctt	6	8	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:24487903C>T	ENST00000264463.4	-	12	2743	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	746					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAGAGATTCAGCAATGGAA	0.438										HNSCC(23;0.051)																																							0													142	141	142					5																	24487903		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2236G>A	5.37:g.24487903C>T	ENSP00000264463:p.Glu746Lys		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E746K	ENST00000264463.4	37	c.2236	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465057	0.63513	.	.	ENSG00000040731	ENST00000264463	T	0.77489	-1.1	5.92	5.06	0.68205	Cadherin, cytoplasmic domain (1);	0.086900	0.85682	N	0.000000	D	0.84840	0.5561	M	0.90082	3.085	0.49687	D	0.999816	P	0.42584	0.784	P	0.46208	0.507	D	0.87255	0.2275	10	0.62326	D	0.03	.	13.9819	0.64310	0.0:0.928:0.0:0.072	.	746	Q9Y6N8	CAD10_HUMAN	K	746	ENSP00000264463:E746K	ENSP00000264463:E746K	E	-	1	0	CDH10	24523660	1.000000	0.71417	0.208000	0.23602	0.994000	0.84299	5.983000	0.70540	1.517000	0.48917	0.655000	0.94253	GAA	CDH10	-	pfam_Cadherin_cytoplasmic-dom		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24487903	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	0.998	T	T	24487903	C	T	24487903	3	4	154	1	0	0	0	0	1	0	0	0	3101	835	29	1	134	1	CDH10	5	24487903	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		24487903	156427357	108	27526										
CDH10	1008	genome.wustl.edu	37	chr5	24511436	24511436	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttatatggatgctgtgcacCtttttcacagtgatgatgcc	9	8	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:24511436C>T	ENST00000264463.4	-	6	1509	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCTGTGCACCTTTTTCACAG	0.403										HNSCC(23;0.051)																																							0													218	174	189					5																	24511436		2203	4300	6503	SO:0001630	splice_region_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1002+1G>A	5.37:g.24511436C>T			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K334	ENST00000264463.4	37	c.1002	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727	Silent	24511436	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24511436	C	T	24511436	5	4	154	1	0	0	0	0	0	0	1	0	3101	695	24	4	1392	4	CDH10	5	24511436	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	23533	24511436	156403824	109	27527										
SPEF2	79925	genome.wustl.edu	37	chr5	35740349	35740349	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atgatgaggaaacaaaggctGaactacatcaacgagtgaat	10	6	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:35740349G>A	ENST00000356031.3	+	23	3464	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	SPEF2_ENST00000440995.2_Missense_Mutation_p.E1099K|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1104					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAAAGGCTGAACTACATCA	0.453																																																	0													147	133	137					5																	35740349		1964	4156	6120	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3310G>A	5.37:g.35740349G>A	ENSP00000348314:p.Glu1104Lys		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E1104K	ENST00000356031.3	37	c.3310	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.403774	0.96051	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.22539	1.96;1.95	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.60929	-0.7165	10	0.87932	D	0	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1099;1104	Q9C093-2;Q9C093	.;SPEF2_HUMAN	K	1104;1099	ENSP00000348314:E1104K;ENSP00000412125:E1099K	ENSP00000348314:E1104K	E	+	1	0	SPEF2	35776106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.457000	0.90361	2.770000	0.95276	0.655000	0.94253	GAA	SPEF2	-	NULL		0.453	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35740349	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35740349	G	A	35740349	3	1	154	1	0	0	0	0	1	0	0	0	15065	1291	45	1	3421	1	SPEF2	5	35740349	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	11228913	35740349	145174911	110	27528										
SPEF2	79925	genome.wustl.edu	37	chr5	35792494	35792494	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgatcgatttggtgaccctGaaccttggcacaaacaactt	8	11	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:35792494G>A	ENST00000356031.3	+	31	4654	c.4500G>A	c.(4498-4500)ctG>ctA	p.L1500L	SPEF2_ENST00000440995.2_Silent_p.L1495L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.L297L	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1500					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTGACCCTGAACCTTGGCA	0.348																																																	0													127	118	121					5																	35792494		1871	4111	5982	SO:0001819	synonymous_variant	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4500G>A	5.37:g.35792494G>A			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.L1500	ENST00000356031.3	37	c.4500	CCDS43309.1	5																																																																																			SPEF2	-	NULL		0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35792494	1	no_errors	ENST00000356031	ensembl	human	known	70_37	silent	SNP	0.971	A	A	35792494	G	A	35792494	2	1	154	1	0	0	0	0	0	0	0	1	15065	1277	45	1		1	SPEF2	5	35792494	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	52145	35792494	145122766	111	27529										
SPEF2	79925	genome.wustl.edu	37	chr5	35793312	35793312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actccgagttcgtggactggCggaagttcctgttagtaacc	12	10	0	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:35793312C>T	ENST00000356031.3	+	32	4760	c.4606C>T	c.(4606-4608)Cgg>Tgg	p.R1536W	SPEF2_ENST00000440995.2_Missense_Mutation_p.R1531W|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.R333W	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1536					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGTGGACTGGCGGAAGTTCCT	0.428																																																	0													102	96	98					5																	35793312		1902	4120	6022	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4606C>T	5.37:g.35793312C>T	ENSP00000348314:p.Arg1536Trp		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.R1536W	ENST00000356031.3	37	c.4606	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316393	0.40996	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.68479	-0.33;-0.33;-0.33	5.88	0.79	0.18613	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.63843	1.955	0.34976	D	0.753587	P;P;B	0.48589	0.912;0.534;0.399	B;B;B	0.38954	0.286;0.097;0.045	T	0.66472	-0.5915	10	0.87932	D	0	.	9.9669	0.41730	0.477:0.4603:0.0:0.0626	.	333;1531;1536	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	W	1536;1531;333	ENSP00000348314:R1536W;ENSP00000412125:R1531W;ENSP00000303843:R333W	ENSP00000303843:R333W	R	+	1	2	SPEF2	35829069	1.000000	0.71417	0.995000	0.50966	0.638000	0.38207	1.131000	0.31406	-0.144000	0.11314	0.655000	0.94253	CGG	SPEF2	-	NULL		0.428	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	C	NM_144722		35793312	1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35793312	C	T	35793312	3	4	154	1	0	0	0	0	1	0	0	0	15065	759	27	2	4753	2	SPEF2	5	35793312	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	818	35793312	145121948	112	27530										
UGT3A1	133688	genome.wustl.edu	37	chr5	35988572	35988572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgggatcaaaaactttccaCtctgatgaagcatagtcaca	7	10	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:35988572C>T	ENST00000274278.3	-	2	533	c.176G>A	c.(175-177)aGt>aAt	p.S59N	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S59N|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S5N	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	59						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTTTCCACTCTGATGAAG	0.343																																																	0													75	70	72					5																	35988572		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.176G>A	5.37:g.35988572C>T	ENSP00000274278:p.Ser59Asn		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S59N	ENST00000274278.3	37	c.176	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891261	0.17613	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000333811	T;T;T	0.61274	0.12;0.12;0.97	3.21	-6.42	0.01932	.	2.272660	0.02443	U	0.084836	T	0.46814	0.1412	L	0.59436	1.845	0.09310	N	1	B;B;B	0.31054	0.014;0.306;0.026	B;B;B	0.31495	0.063;0.131;0.033	T	0.32745	-0.9895	10	0.62326	D	0.03	.	0.4012	0.00426	0.2397:0.1519:0.2272:0.3813	.	59;5;59	B7Z8Q8;G5E961;Q6NUS8	.;.;UD3A1_HUMAN	N	59;59;5	ENSP00000274278:S59N;ENSP00000427079:S59N;ENSP00000328033:S5N	ENSP00000274278:S59N	S	-	2	0	UGT3A1	36024329	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.186000	0.03070	-1.754000	0.01321	0.462000	0.41574	AGT	UGT3A1	-	pfam_UDP_glucos_trans		0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2	C	NM_152404		35988572	-1	no_errors	ENST00000274278	ensembl	human	known	70_37	missense	SNP	0.000	T	T	35988572	C	T	35988572	3	4	154	1	0	0	0	0	1	0	0	0	16994	565	20	4	1501	4	UGT3A1	5	35988572	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	195260	35988572	144926688	113	27531										
NIPBL	25836	genome.wustl.edu	37	chr5	37057342	37057342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acaatctagcctgttttccaTaccagacacaggaagagccg	8	12	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:37057342T>A	ENST00000282516.8	+	43	7817	c.7318T>A	c.(7318-7320)Tac>Aac	p.Y2440N	NIPBL_ENST00000448238.2_Missense_Mutation_p.Y2440N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2440			Y -> H (in CDLS1). {ECO:0000269|PubMed:15318302}.		brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGTTTTCCATACCAGACACA	0.373																																																	0			GRCh37	CM042524	NIPBL	M							102	93	96					5																	37057342		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7318T>A	5.37:g.37057342T>A	ENSP00000282516:p.Tyr2440Asn		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y2440N	ENST00000282516.8	37	c.7318	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808546	0.90707	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.98280	-4.84;-4.84	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.99032	0.9669	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99744	1.1016	10	0.87932	D	0	-5.3037	16.1986	0.82053	0.0:0.0:0.0:1.0	.	2440;2440;2440	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	N	2440	ENSP00000282516:Y2440N;ENSP00000406266:Y2440N	ENSP00000282516:Y2440N	Y	+	1	0	NIPBL	37093099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.227000	0.72691	0.455000	0.32223	TAC	NIPBL	-	NULL		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	T	NM_015384		37057342	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37057342	T	A	37057342	3	1	154	1	0	0	0	0	1	0	0	0	10452	1406	49	5	7484	5	NIPBL	5	37057342	Missense_Mutation	SNP	T	TCGA-IR-A3LL-01A-11D-A20U-09	1068770	37057342	143857918	114	27532										
C5orf34	375444	genome.wustl.edu	37	chr5	43506470	43506470	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtatcaagactgggccatctCacttctgttatgtcaatgaa	8	9	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:43506470C>T	ENST00000306862.2	-	4	687	c.312G>A	c.(310-312)gtG>gtA	p.V104V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	104										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGGGCCATCTCACTTCTGTTA	0.393																																																	0													86	77	80					5																	43506470		2203	4300	6503	SO:0001819	synonymous_variant	375444			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.312G>A	5.37:g.43506470C>T				Silent	SNP	NULL	p.V104	ENST00000306862.2	37	c.312	CCDS3946.1	5																																																																																			C5orf34	-	NULL		0.393	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	C	NM_198566		43506470	-1	no_errors	ENST00000306862	ensembl	human	known	70_37	silent	SNP	0.012	T	T	43506470	C	T	43506470	2	4	154	1	0	0	0	0	0	0	0	1	2298	813	29	1		1	C5orf34	5	43506470	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6449128	43506470	137408790	115	27533										
ITGA2	3673	genome.wustl.edu	37	chr5	52351382	52351382	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccacagaaaatatgcttattCagcagcttctggtgggcgac	10	10	2	1	rs560079800		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:52351382C>G	ENST00000296585.5	+	8	937	c.794C>G	c.(793-795)tCa>tGa	p.S265*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	265	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TATGCTTATTCAGCAGCTTCT	0.353																																																	0													104	102	103					5																	52351382		2203	4300	6503	SO:0001587	stop_gained	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.794C>G	5.37:g.52351382C>G	ENSP00000296585:p.Ser265*		Q14595	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S265*	ENST00000296585.5	37	c.794	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.477990	0.96291	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.54	4.66	0.58398	.	0.759254	0.12829	N	0.435753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	14.7441	0.69477	0.0:0.9295:0.0:0.0705	.	.	.	.	X	265	.	ENSP00000296585:S265X	S	+	2	0	ITGA2	52387139	0.316000	0.24580	0.958000	0.39756	0.848000	0.48234	1.095000	0.30964	1.301000	0.44836	0.650000	0.86243	TCA	ITGA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	C	NM_002203		52351382	1	no_errors	ENST00000296585	ensembl	human	known	70_37	nonsense	SNP	0.989	G	G	52351382	C	G	52351382	4	3	154	1	0	0	0	0	0	1	0	0	7895	838	29	1	824	1	ITGA2	5	52351382	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	8844912	52351382	128563878	116	27534										
ERBB2IP	55914	genome.wustl.edu	37	chr5	65371026	65371026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atacacagccccattgttctCctagacaaggccatgaactg	7	13	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:65371026C>T	ENST00000284037.5	+	23	4320	c.3931C>T	c.(3931-3933)Cct>Tct	p.P1311S	ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.P1266S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.P1270S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.P509S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.P1270S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.P1270S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.P1259S|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.P1318S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1311					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CCATTGTTCTCCTAGACAAGG	0.398																																																	0													100	102	101					5																	65371026		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3931C>T	5.37:g.65371026C>T	ENSP00000284037:p.Pro1311Ser		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.P1311S	ENST00000284037.5	37	c.3931	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729819	0.69074	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.38240	1.26;1.22;1.22;1.15;1.62;1.18;1.22;1.28	5.57	0.181	0.15073	PDZ/DHR/GLGF (1);	0.185133	0.47852	N	0.000211	T	0.22475	0.0542	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.001;0.001;0.001	B;B;B;B;B;B;B	0.11329	0.0;0.006;0.003;0.004;0.001;0.003;0.004	T	0.06162	-1.0842	10	0.72032	D	0.01	.	9.5771	0.39465	0.0:0.4325:0.4355:0.1319	.	509;1270;1318;1318;1266;1311;1270	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	S	1311;1270;509;1259;1270;1270;1266;1318;148	ENSP00000284037:P1311S;ENSP00000370330:P1270S;ENSP00000397833:P509S;ENSP00000370326:P1259S;ENSP00000370323:P1270S;ENSP00000370325:P1270S;ENSP00000422766:P1266S;ENSP00000426632:P1318S	ENSP00000284037:P1311S	P	+	1	0	ERBB2IP	65406782	0.998000	0.40836	0.998000	0.56505	0.999000	0.98932	0.608000	0.24223	-0.022000	0.13986	0.650000	0.86243	CCT	ERBB2IP	-	superfamily_PDZ		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	C	NM_018695		65371026	1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	0.998	T	T	65371026	C	T	65371026	3	4	154	1	0	0	0	0	1	0	0	0	5219	855	30	1	3886	1	ERBB2IP	5	65371026	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	13019644	65371026	115544234	117	27535										
FAM81B	153643	genome.wustl.edu	37	chr5	94727215	94727215	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaaagcaagcatcatgagttCaggtacttatggactattcg	9	7	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:94727215C>T	ENST00000283357.5	+	1	168	c.122C>T	c.(121-123)tCa>tTa	p.S41L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	41						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATCATGAGTTCAGGTACTTAT	0.303																																																	0													65	64	64					5																	94727215		1811	4078	5889	SO:0001583	missense	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.122C>T	5.37:g.94727215C>T	ENSP00000283357:p.Ser41Leu			Missense_Mutation	SNP	NULL	p.S41L	ENST00000283357.5	37	c.122	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912944	0.52439	.	.	ENSG00000153347	ENST00000283357	T	0.23552	1.9	4.83	4.83	0.62350	.	0.190069	0.26478	N	0.024144	T	0.11110	0.0271	N	0.01267	-0.92	0.24522	N	0.994157	B	0.32829	0.386	B	0.34242	0.178	T	0.23619	-1.0183	10	0.87932	D	0	25.3118	13.6124	0.62088	0.0:1.0:0.0:0.0	.	41	Q96LP2	FA81B_HUMAN	L	41	ENSP00000283357:S41L	ENSP00000283357:S41L	S	+	2	0	FAM81B	94752971	0.987000	0.35691	0.991000	0.47740	0.221000	0.24807	3.189000	0.50965	2.658000	0.90341	0.563000	0.77884	TCA	FAM81B	-	NULL		0.303	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	C	NM_152548		94727215	1	no_errors	ENST00000283357	ensembl	human	known	70_37	missense	SNP	0.995	T	T	94727215	C	T	94727215	3	4	154	1	0	0	0	0	1	0	0	0	5647	838	29	1	124	1	FAM81B	5	94727215	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	29356189	94727215	86188045	118	27536										
YTHDC2	64848	genome.wustl.edu	37	chr5	112917198	112917198	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctccatctaaaccttggtctCaagttgatgaagctaccata	6	11	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:112917198C>T	ENST00000161863.4	+	25	3652	c.3439C>T	c.(3439-3441)Caa>Taa	p.Q1147*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1147					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCTTGGTCTCAAGTTGATGA	0.423																																																	0													94	87	89					5																	112917198		2202	4300	6502	SO:0001587	stop_gained	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3439C>T	5.37:g.112917198C>T	ENSP00000161863:p.Gln1147*		B2RP66	Nonsense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1147*	ENST00000161863.4	37	c.3439	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.722724	0.99595	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	18.2066	0.89857	0.0:1.0:0.0:0.0	.	.	.	.	X	1147;1057	.	ENSP00000161863:Q1147X	Q	+	1	0	YTHDC2	112945097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.281000	0.76405	0.644000	0.83932	CAA	YTHDC2	-	NULL		0.423	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	C	NM_022828		112917198	1	no_errors	ENST00000161863	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	112917198	C	T	112917198	4	4	154	1	0	0	0	0	0	1	0	0	17528	827	29	1	3537	1	YTHDC2	5	112917198	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	18189983	112917198	67998062	119	27537										
C5orf20	140947	genome.wustl.edu	37	chr5	134782257	134782257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaggtgggtgccatggatctGatgatttcagtgattttcta	12	5	3	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:134782257G>A	ENST00000503143.2	-	1	781	c.542C>T	c.(541-543)tCa>tTa	p.S181L	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		181	Ser-rich.					nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATGGATCTGATGATTTCAG	0.493																																																	0													99	100	100					5																	134782257		2203	4300	6503	SO:0001583	missense	140947																														ENST00000503143.2:c.542C>T	5.37:g.134782257G>A	ENSP00000421871:p.Ser181Leu			Missense_Mutation	SNP	NULL	p.S181L	ENST00000503143.2	37	c.542	CCDS4186.1	5	.	.	.	.	.	.	.	.	.	.	G	7.730	0.698989	0.15106	.	.	ENSG00000251380	ENST00000503143	T	0.38401	1.14	3.45	0.389	0.16269	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.09310	N	0.999997	B	0.16603	0.018	B	0.16289	0.015	T	0.21314	-1.0249	9	0.87932	D	0	.	2.9884	0.05975	0.3066:0.2356:0.4579:0.0	.	181	Q8TF63	DCNP1_HUMAN	L	181	ENSP00000421871:S181L	ENSP00000421871:S181L	S	-	2	0	C5orf20	134810156	0.001000	0.12720	0.002000	0.10522	0.084000	0.17831	0.165000	0.16564	0.063000	0.16370	0.491000	0.48974	TCA	C5orf20	-	NULL		0.493	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf20	HGNC	protein_coding	OTTHUMT00000372531.1	G			134782257	-1	no_errors	ENST00000503143	ensembl	human	known	70_37	missense	SNP	0.002	A	A	134782257	G	A	134782257	3	1	154	1	0	0	0	0	1	0	0	0	2289	1294	45	1	196	1	C5orf20	5	134782257	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	21865059	134782257	46133003	120	27538										
PCDH12	51294	genome.wustl.edu	37	chr5	141336489	141336489	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agggttcttttcatagtctaGaggtcgacgcagaatgacct	11	8	3	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:141336489G>A	ENST00000231484.3	-	1	2138	c.928C>T	c.(928-930)Cta>Tta	p.L310L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATAGTCTAGAGGTCGACGC	0.527																																																	0													72	65	68					5																	141336489		2203	4300	6503	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.928C>T	5.37:g.141336489G>A			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L310	ENST00000231484.3	37	c.928	CCDS4269.1	5																																																																																			PCDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	G	NM_016580		141336489	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	silent	SNP	0.922	A	A	141336489	G	A	141336489	2	1	154	1	0	0	0	0	0	0	0	1	11534	933	33	1		1	PCDH12	5	141336489	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6554232	141336489	39578771	121	27539										
RNF145	153830	genome.wustl.edu	37	chr5	158596779	158596779	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaggcaacaaaagaaaccgtGaagaccaaacccaaaagaga	8	9	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:158596779G>C	ENST00000424310.2	-	7	1205	c.846C>G	c.(844-846)ttC>ttG	p.F282L	RNF145_ENST00000274542.2_Missense_Mutation_p.F310L|RNF145_ENST00000520638.1_Missense_Mutation_p.F296L|RNF145_ENST00000519865.1_Missense_Mutation_p.F282L|RNF145_ENST00000521606.2_Missense_Mutation_p.F299L|RNF145_ENST00000518802.1_Missense_Mutation_p.F312L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	282						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGAAACCGTGAAGACCAAAC	0.423																																																	0													57	57	57					5																	158596779		2203	4300	6503	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.846C>G	5.37:g.158596779G>C	ENSP00000409064:p.Phe282Leu		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.F310L	ENST00000424310.2	37	c.930	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672841	0.47781	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.75367	-0.93;-0.91;-0.91;-0.92;-0.92;-0.93;-0.92	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	L	0.41236	1.265	0.58432	D	0.999999	D;D;D;D;P;D	0.55800	0.973;0.973;0.973;0.973;0.536;0.967	P;P;P;P;B;P	0.57101	0.813;0.813;0.813;0.813;0.304;0.716	T	0.73748	-0.3885	10	0.31617	T	0.26	-24.5818	12.2082	0.54365	0.1358:0.0:0.8642:0.0	.	298;299;296;312;282;310	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	L	310;282;282;298;299;312;282;296	ENSP00000274542:F310L;ENSP00000430397:F282L;ENSP00000409064:F282L;ENSP00000430753:F298L;ENSP00000445115:F299L;ENSP00000430955:F312L;ENSP00000429071:F296L	ENSP00000274542:F310L	F	-	3	2	RNF145	158529357	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.756000	0.74919	1.582000	0.49881	0.585000	0.79938	TTC	RNF145	-	NULL		0.423	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	G	NM_144726		158596779	-1	no_errors	ENST00000274542	ensembl	human	known	70_37	missense	SNP	1.000	C	C	158596779	G	C	158596779	3	2	154	1	0	0	0	0	1	0	0	0	13477	1281	45	1	1165	1	RNF145	5	158596779	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	17260290	158596779	22318481	122	27540										
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171766800	171766800	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcgtggggcaggggagccaGaaagttgggtctcgacgcgt	18	9	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:171766800G>A	ENST00000311601.5	-	13	1479	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	437					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGAGCCAGAAAGTTGGGT	0.627																																																	0													60	65	64					5																	171766800		2203	4300	6503	SO:0001819	synonymous_variant	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1309C>T	5.37:g.171766800G>A			B6F0V2|Q9P2Q1	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.L437	ENST00000311601.5	37	c.1309	CCDS34291.1	5																																																																																			SH3PXD2B	-	superfamily_SH3_domain		0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	G	NM_017963		171766800	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	silent	SNP	0.985	A	A	171766800	G	A	171766800	2	1	154	1	0	0	0	0	0	0	0	1	14287	933	33	1		1	SH3PXD2B	5	171766800	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	13170021	171766800	9148460	123	27541										
MAPK9	5601	genome.wustl.edu	37	chr5	179668047	179668047	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcacggcttctgcttcggcgGggtcataccaaacagtgatg	12	11	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr5:179668047G>T	ENST00000452135.2	-	9	1278	c.980C>A	c.(979-981)cCc>cAc	p.P327H	MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.P327H|MAPK9_ENST00000347470.4_Missense_Mutation_p.P242H|MAPK9_ENST00000455781.1_Missense_Mutation_p.P327H|MAPK9_ENST00000343111.6_Missense_Mutation_p.P327H			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	327					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.P327H(3)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTCGGCGGGGTCATACCA	0.458																																																	3	Substitution - Missense(3)	lung(3)											165	179	174					5																	179668047		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.980C>A	5.37:g.179668047G>T	ENSP00000394560:p.Pro327His		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.P327H	ENST00000452135.2	37	c.980	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954039	0.53293	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.061993	0.64402	D	0.000003	D	0.91338	0.7268	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.63046	0.97;0.97;0.97;0.992	P;P;P;P	0.57324	0.818;0.818;0.746;0.8	D	0.93041	0.6457	10	0.87932	D	0	-9.8013	18.7966	0.91997	0.0:0.0:1.0:0.0	.	327;327;327;327	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	H	327;327;327;327;242	ENSP00000394560:P327H;ENSP00000377028:P327H;ENSP00000389338:P327H;ENSP00000345524:P327H;ENSP00000321410:P242H	ENSP00000345524:P327H	P	-	2	0	MAPK9	179600653	1.000000	0.71417	0.653000	0.29593	0.005000	0.04900	9.670000	0.98625	2.430000	0.82344	0.557000	0.71058	CCC	MAPK9	-	superfamily_Kinase-like_dom,prints_MAPK_JNK		0.458	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179668047	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179668047	G	T	179668047	3	4	154	1	0	0	0	0	1	0	0	0	9310	1232	43	4	315	4	MAPK9	5	179668047	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7901247	179668047	1247213	124	27542										
HIVEP1	3096	genome.wustl.edu	37	chr6	12121433	12121433	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgggtcttgtcttgcaaccaGatgctggtggcttgttcttg	13	8	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:12121433G>A	ENST00000379388.2	+	4	1737	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	469					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGCAACCAGATGCTGGTGG	0.463																																																	0													72	74	73					6																	12121433		2006	4172	6178	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1405G>A	6.37:g.12121433G>A	ENSP00000368698:p.Asp469Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D469N	ENST00000379388.2	37	c.1405	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839736	0.91117	.	.	ENSG00000095951	ENST00000379388	T	0.10099	2.91	5.48	5.48	0.80851	.	0.226341	0.22698	N	0.056730	T	0.19446	0.0467	M	0.61703	1.905	0.80722	D	1	D	0.61080	0.989	P	0.58721	0.844	T	0.00440	-1.1738	9	.	.	.	-18.1663	19.3464	0.94365	0.0:0.0:1.0:0.0	.	469	P15822	ZEP1_HUMAN	N	469	ENSP00000368698:D469N	.	D	+	1	0	HIVEP1	12229419	1.000000	0.71417	0.984000	0.44739	0.594000	0.36715	9.869000	0.99810	2.566000	0.86566	0.655000	0.94253	GAT	HIVEP1	-	NULL		0.463	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12121433	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12121433	G	A	12121433	3	1	154	1	0	0	0	0	1	0	0	0	7206	942	33	1	1415	1	HIVEP1	6	12121433	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		12121433	158993634	125	27543										
HIST1H1E	3008	genome.wustl.edu	37	chr6	26157092	26157092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagaagaccccaaagaaggcGaagaagccggctgcagctgc	13	11	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:26157092G>A	ENST00000304218.3	+	1	534	c.474G>A	c.(472-474)gcG>gcA	p.A158A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	158					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAAGAAGGCGAAGAAGCCGG	0.617																																																	0													14	21	18					6																	26157092		2191	4285	6476	SO:0001819	synonymous_variant	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.474G>A	6.37:g.26157092G>A			Q4VB25	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A158	ENST00000304218.3	37	c.474	CCDS4586.1	6																																																																																			HIST1H1E	-	NULL		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26157092	1	no_errors	ENST00000304218	ensembl	human	known	70_37	silent	SNP	0.001	A	A	26157092	G	A	26157092	2	1	154	1	0	0	0	0	0	0	0	1	7146	1045	37	1		1	HIST1H1E	6	26157092	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	14035659	26157092	144957975	126	27544										
HIST1H2BF	8343	genome.wustl.edu	37	chr6	26199793	26199793	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agtgtttatttatcatgcctGaacctgctaagtccgctcct	7	11	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:26199793G>A	ENST00000359985.1	+	1	46	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TATCATGCCTGAACCTGCTAA	0.488																																																	0													86	84	85					6																	26199793		2203	4300	6503	SO:0001583	missense	8343			Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.7G>A	6.37:g.26199793G>A	ENSP00000353074:p.Glu3Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E3K	ENST00000359985.1	37	c.7	CCDS4592.1	6	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792729	0.50102	.	.	ENSG00000197846	ENST00000359985	T	0.17691	2.26	4.71	3.82	0.43975	.	0.000000	0.41712	D	0.000824	T	0.13927	0.0337	.	.	.	0.27988	N	0.93576	.	.	.	.	.	.	T	0.01323	-1.1385	7	0.54805	T	0.06	.	12.839	0.57790	0.0851:0.0:0.9149:0.0	.	.	.	.	K	3	ENSP00000353074:E3K	ENSP00000353074:E3K	E	+	1	0	HIST1H2BF	26307772	1.000000	0.71417	0.959000	0.39883	0.027000	0.11550	6.652000	0.74377	2.318000	0.78349	0.650000	0.86243	GAA	HIST1H2BF	-	NULL		0.488	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BF	HGNC	protein_coding	OTTHUMT00000040108.1	G	NM_003522		26199793	1	no_errors	ENST00000359985	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26199793	G	A	26199793	3	1	154	1	0	0	0	0	1	0	0	0	7165	1291	45	1	9	1	HIST1H2BF	6	26199793	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	42701	26199793	144915274	127	27545										
BTN3A3	10384	genome.wustl.edu	37	chr6	26446130	26446130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcagcatctgtgatcatgaGaggcagctctggtgggggtg	17	7	3	2	rs140844974		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:26446130G>C	ENST00000244519.2	+	5	875	c.632G>C	c.(631-633)aGa>aCa	p.R211T	BTN3A3_ENST00000339789.4_Missense_Mutation_p.R169T|BTN3A3_ENST00000361232.3_Missense_Mutation_p.R169T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	211	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTGATCATGAGAGGCAGCTCT	0.557																																																	0								G	,THR/ARG,THR/ARG	0,4406		0,0,2203	159	151	154		,632,506	-1.7	0	6	dbSNP_134	154	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense,missense	BTN3A3	NM_001242803.1,NM_006994.4,NM_197974.2	,71,71	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	,benign,benign	,211/585,169/536	26446130	2,13004	2203	4300	6503	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.632G>C	6.37:g.26446130G>C	ENSP00000244519:p.Arg211Thr		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.R211T	ENST00000244519.2	37	c.632	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	9.566	1.119764	0.20877	0.0	2.33E-4	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000496719;ENST00000476281;ENST00000487272	T;T;T;T;T	0.75260	3.43;3.43;3.43;-0.92;-0.92	3.06	-1.69	0.08186	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37320	0.0999	L	0.29908	0.895	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.14023	0.01;0.01	T	0.31558	-0.9939	9	0.45353	T	0.12	.	6.6539	0.22977	0.5331:0.0:0.4669:0.0	.	169;211	E9PCP5;O00478	.;BT3A3_HUMAN	T	211;169;169;211;117;169	ENSP00000244519:R211T;ENSP00000344968:R169T;ENSP00000355238:R169T;ENSP00000420147:R211T;ENSP00000419445:R169T	ENSP00000244519:R211T	R	+	2	0	BTN3A3	26554109	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-1.250000	0.02885	-0.244000	0.09639	0.456000	0.33151	AGA	BTN3A3	-	pfscan_Ig-like		0.557	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	G	NM_006994		26446130	1	no_errors	ENST00000244519	ensembl	human	known	70_37	missense	SNP	0.000	C	C	26446130	G	C	26446130	3	2	154	1	0	0	0	0	1	0	0	0	1567	942	33	1	642	1	BTN3A3	6	26446130	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	246337	26446130	144668937	128	27546										
HLA-B	3106	genome.wustl.edu	37	chr6	31323001	31323001	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggtggactgggaagacggctCtgggaaaggaggggaagatg	21	4	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:31323001C>T	ENST00000412585.2	-	5	924		c.e5-1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GAAGACGGCTCTGGGAAAGGA	0.602									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													60	61	61					6																	31323001		1511	2709	4220	SO:0001630	splice_region_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.896-1G>A	6.37:g.31323001C>T			Q29764	Splice_Site	SNP	-	e5-1	ENST00000412585.2	37	c.896-1	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	.	13.81	2.347390	0.41599	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3839	0.49773	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31430980	1.000000	0.71417	0.512000	0.27736	0.299000	0.27559	3.086000	0.50159	1.804000	0.52760	0.442000	0.29010	.	HLA-B	-	-		0.602	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514	Intron	31323001	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	splice_site	SNP	0.931	T	T	31323001	C	T	31323001	5	4	154	1	0	0	0	0	0	0	1	0	7216	927	32	1	205	1	HLA-B	6	31323001	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4876871	31323001	139792066	129	27547										
RNF5	6048	genome.wustl.edu	37	chr6	32148026	32148026	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtgtggatctgggacagggtCacccagcctccagctggcag	15	12	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:32148026C>T	ENST00000375094.3	+	6	624	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000427134.2_Intron	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	156					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(7)|urinary_tract(2)	10						GGGACAGGGTCACCCAGCCTC	0.562																																																	0													236	253	247					6																	32148026		1511	2709	4220	SO:0001583	missense	6048			U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"RING-type (C3HC4) zinc fingers"	10068	protein-coding gene	gene with protein product		602677	"ring finger protein 5"			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.466C>T	6.37:g.32148026C>T	ENSP00000364235:p.His156Tyr		A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H156Y	ENST00000375094.3	37	c.466	CCDS4745.1	6	.	.	.	.	.	.	.	.	.	.	C	3.079	-0.189322	0.06299	.	.	ENSG00000204308	ENST00000375094	D	0.93019	-3.15	5.02	5.02	0.67125	.	0.168735	0.51477	D	0.000095	T	0.72447	0.3461	N	0.04297	-0.235	0.80722	D	1	B	0.22746	0.074	B	0.20384	0.029	T	0.72200	-0.4362	10	0.02654	T	1	.	16.1944	0.82018	0.0:1.0:0.0:0.0	.	156	Q99942	RNF5_HUMAN	Y	156	ENSP00000364235:H156Y	ENSP00000364235:H156Y	H	+	1	0	RNF5	32256004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.643000	0.46604	2.486000	0.83907	0.561000	0.74099	CAC	RNF5	-	NULL		0.562	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF5	HGNC	protein_coding	OTTHUMT00000076133.2	C	NM_006913		32148026	1	no_errors	ENST00000375094	ensembl	human	known	70_37	missense	SNP	0.999	T	T	32148026	C	T	32148026	3	4	154	1	0	0	0	0	1	0	0	0	13527	826	29	1	488	1	RNF5	6	32148026	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	825025	32148026	138967041	130	27548										
SYNGAP1	8831	genome.wustl.edu	37	chr6	33391367	33391367	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	accagctgctcatgctggatGaggatgaggtgagtgtggtg	17	6	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:33391367G>C	ENST00000418600.2	+	2	282	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E61Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	61					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATGCTGGATGAGGATGAGGT	0.532																																																	0													140	126	131					6																	33391367		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.181G>C	6.37:g.33391367G>C	ENSP00000403636:p.Glu61Gln		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E61Q	ENST00000418600.2	37	c.181	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191832	0.38707	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.16324	2.35;2.43	3.73	3.73	0.42828	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.081041	0.47455	D	0.000222	T	0.12860	0.0312	N	0.19112	0.55	0.32662	N	0.517967	P;P;P	0.45902	0.659;0.769;0.868	P;P;B	0.61397	0.775;0.888;0.225	T	0.05666	-1.0871	10	0.30078	T	0.28	.	13.4332	0.61068	0.0:0.0:1.0:0.0	.	61;61;61	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	Q	61	ENSP00000293748:E61Q;ENSP00000403636:E61Q	ENSP00000293748:E61Q	E	+	1	0	SYNGAP1	33499345	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.155000	0.58131	2.098000	0.63641	0.555000	0.69702	GAG	SYNGAP1	-	smart_Pleckstrin_homology		0.532	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33391367	1	no_errors	ENST00000418600	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33391367	G	C	33391367	3	2	154	1	0	0	0	0	1	0	0	0	15477	1291	45	1	187	1	SYNGAP1	6	33391367	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1243341	33391367	137723700	131	27549										
OOEP	441161	genome.wustl.edu	37	chr6	74078950	74078950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcgggcacgatgttctcggtGaaaccatgccaggcacagga	13	11	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:74078950G>A	ENST00000370359.5	-	2	348	c.349C>T	c.(349-351)Cac>Tac	p.H117Y	OOEP_ENST00000370363.1_Missense_Mutation_p.H62Y|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	117					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTTCTCGGTGAAACCATGCC	0.562																																																	0													60	60	60					6																	74078950		2004	4178	6182	SO:0001583	missense	441161			BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"KH homology domain containing 2"	611689	"chromosome 6 open reading frame 156", "oocyte expressed protein homolog (dog)"	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.349C>T	6.37:g.74078950G>A	ENSP00000359384:p.His117Tyr		A6NIN5|A9UIB7	Missense_Mutation	SNP	NULL	p.H117Y	ENST00000370359.5	37	c.349	CCDS47451.1	6	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788093	0.31593	.	.	ENSG00000203907	ENST00000370363;ENST00000370359;ENST00000441145	T;T;T	0.14391	2.51;2.51;2.51	3.55	-1.33	0.09172	.	1.075700	0.07190	N	0.855538	T	0.06508	0.0167	M	0.74881	2.28	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.10450	0.005;0.004	T	0.46020	-0.9221	10	0.72032	D	0.01	-5.7378	7.2713	0.26258	0.5768:0.0:0.4232:0.0	.	62;117	F2Z364;A6NGQ2	.;OOEP_HUMAN	Y	62;117;62	ENSP00000359388:H62Y;ENSP00000359384:H117Y;ENSP00000397430:H62Y	ENSP00000359384:H117Y	H	-	1	0	OOEP	74135671	0.021000	0.18746	0.000000	0.03702	0.001000	0.01503	0.648000	0.24828	-0.331000	0.08501	-0.768000	0.03414	CAC	OOEP	-	NULL		0.562	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OOEP	HGNC	protein_coding	OTTHUMT00000108414.2	G	NM_001080507		74078950	-1	no_errors	ENST00000370359	ensembl	human	known	70_37	missense	SNP	0.000	A	A	74078950	G	A	74078950	3	1	154	1	0	0	0	0	1	0	0	0	10894	1290	45	1	108	1	OOEP	6	74078950	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	40687583	74078950	97036117	132	27550										
MRAP2	112609	genome.wustl.edu	37	chr6	84772652	84772652	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgggttggtcttgcagtcttCgtgatttttatgttttttgt	11	4	2	1	rs150284745		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:84772652C>T	ENST00000257776.4	+	3	303	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	56					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.F56F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTGCAGTCTTCGTGATTTTTA	0.398																																																	1	Substitution - coding silent(1)	skin(1)											277	246	256					6																	84772652		2203	4300	6503	SO:0001819	synonymous_variant	112609			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.168C>T	6.37:g.84772652C>T			A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	NULL	p.F56	ENST00000257776.4	37	c.168	CCDS5001.1	6																																																																																			MRAP2	-	NULL		0.398	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAP2	HGNC	protein_coding	OTTHUMT00000041367.1	C	NM_138409		84772652	1	no_errors	ENST00000257776	ensembl	human	known	70_37	silent	SNP	0.829	T	T	84772652	C	T	84772652	2	4	154	1	0	0	0	0	0	0	0	1	9777	883	31	1		1	MRAP2	6	84772652	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	10693702	84772652	86342415	133	27551										
KIAA1009	22832	genome.wustl.edu	37	chr6	84913791	84913791	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggtgcaccaacatactcatCttcaaaatcatcactgtaat	4	12	5	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:84913791C>T	ENST00000403245.3	-	7	709	c.595G>A	c.(595-597)Gat>Aat	p.D199N	KIAA1009_ENST00000257766.4_Missense_Mutation_p.D123N	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ACATACTCATCTTCAAAATCA	0.328																																																	0													95	96	96					6																	84913791		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.595G>A	6.37:g.84913791C>T	ENSP00000385215:p.Asp199Asn			Missense_Mutation	SNP	NULL	p.D199N	ENST00000403245.3	37	c.595	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285696	0.59867	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.13778	2.56;2.56	5.61	4.75	0.60458	.	0.277160	0.32106	N	0.006568	T	0.13243	0.0321	M	0.62723	1.935	0.23787	N	0.996844	P;D	0.56746	0.675;0.977	B;P	0.52159	0.426;0.691	T	0.03086	-1.1074	10	0.62326	D	0.03	-10.0882	12.4739	0.55801	0.0:0.9219:0.0:0.0781	.	199;199	Q5TB80;C9JFM9	QN1_HUMAN;.	N	123;199	ENSP00000257766:D123N;ENSP00000385215:D199N	ENSP00000257766:D123N	D	-	1	0	KIAA1009	84970510	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	2.744000	0.47450	1.373000	0.46208	-0.251000	0.11542	GAT	KIAA1009	-	NULL		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84913791	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84913791	C	T	84913791	3	4	154	1	0	0	0	0	1	0	0	0	8223	913	32	1	3700	1	KIAA1009	6	84913791	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	141139	84913791	86201276	134	27552										
MDN1	23195	genome.wustl.edu	37	chr6	90435005	90435005	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgacacccaaaaatcttcgtCttttcatgctgcacttgaaa	5	11	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:90435005C>G	ENST00000369393.3	-	38	5698	c.5583G>C	c.(5581-5583)aaG>aaC	p.K1861N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1861N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1861					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAATCTTCGTCTTTTCATGCT	0.448																																																	0													133	124	127					6																	90435005		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5583G>C	6.37:g.90435005C>G	ENSP00000358400:p.Lys1861Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.K1861N	ENST00000369393.3	37	c.5583	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710708	0.48517	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.35789	1.29;1.29	5.88	4.1	0.47936	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.06096	0.0158	N	0.03000	-0.44	0.46954	D	0.99926	B	0.17852	0.024	B	0.24006	0.05	T	0.19877	-1.0292	10	0.11182	T	0.66	.	12.5401	0.56165	0.0:0.865:0.0:0.135	.	1861	Q9NU22	MDN1_HUMAN	N	1861	ENSP00000358400:K1861N;ENSP00000413970:K1861N	ENSP00000358400:K1861N	K	-	3	2	MDN1	90491726	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.686000	0.37669	0.822000	0.34565	0.591000	0.81541	AAG	MDN1	-	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,smart_AAA+_ATPase,pirsf_Midasin		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90435005	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90435005	C	G	90435005	3	3	154	1	0	0	0	0	1	0	0	0	9438	912	32	1	11467	1	MDN1	6	90435005	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5521214	90435005	80680062	135	27553										
ROS1	6098	genome.wustl.edu	37	chr6	117642486	117642486	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acctcgcagctcagccaactCtttgtcttcgtttataagca	6	13	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:117642486C>G	ENST00000368508.3	-	35	5911	c.5713G>C	c.(5713-5715)Gag>Cag	p.E1905Q	ROS1_ENST00000368507.3_Missense_Mutation_p.E1899Q|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1905					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGCCAACTCTTTGTCTTCG	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													173	163	166					6																	117642486		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5713G>C	6.37:g.117642486C>G	ENSP00000357494:p.Glu1905Gln		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1905Q	ENST00000368508.3	37	c.5713	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731706	0.48939	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.73152	-0.72;-0.72	5.16	4.3	0.51218	.	0.097326	0.44097	N	0.000499	T	0.69984	0.3172	L	0.35249	1.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75379	-0.3338	10	0.62326	D	0.03	.	14.9247	0.70868	0.0:0.8559:0.1441:0.0	.	1905	P08922	ROS1_HUMAN	Q	1905;1899	ENSP00000357494:E1905Q;ENSP00000357493:E1899Q	ENSP00000357493:E1899Q	E	-	1	0	ROS1	117749179	1.000000	0.71417	0.997000	0.53966	0.241000	0.25554	3.781000	0.55394	1.323000	0.45263	-0.127000	0.14921	GAG	ROS1	-	NULL		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117642486	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117642486	C	G	117642486	3	3	154	1	0	0	0	0	1	0	0	0	13561	922	32	1	1366	1	ROS1	6	117642486	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	27207481	117642486	53472581	136	27554										
PKIB	5570	genome.wustl.edu	37	chr6	123039060	123039060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agagttcagctgccacagacGgaacctcagatttgcccctc	9	14	2	3	rs201327015		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:123039060G>A	ENST00000368448.1	+	5	748	c.121G>A	c.(121-123)Gga>Aga	p.G41R	PKIB_ENST00000368452.2_Missense_Mutation_p.G41R|PKIB_ENST00000368446.1_Missense_Mutation_p.G50R|PKIB_ENST00000258014.3_Missense_Mutation_p.G48R|PKIB_ENST00000392490.1_Missense_Mutation_p.G41R|PKIB_ENST00000392491.2_Missense_Mutation_p.G41R|PKIB_ENST00000354275.2_Missense_Mutation_p.G41R			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	41							cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TGCCACAGACGGAACCTCAGA	0.502																																																	0								G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	110	103	105		121,121,121	4.6	0	6		105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PKIB	NM_032471.4,NM_181794.1,NM_181795.1	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	41/79,41/79,41/79	123039060	1,13005	2203	4300	6503	SO:0001583	missense	5570				CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.121G>A	6.37:g.123039060G>A	ENSP00000357433:p.Gly41Arg		B2RCK2|Q567T9|Q5T0Z7	Missense_Mutation	SNP	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.G50R	ENST00000368448.1	37	c.148	CCDS5126.1	6	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936537	0.73442	0.0	1.16E-4	ENSG00000135549	ENST00000392491;ENST00000368452;ENST00000368448;ENST00000392490;ENST00000258014;ENST00000354275;ENST00000368446	.	.	.	5.43	4.56	0.56223	.	0.170739	0.36066	N	0.002802	T	0.16342	0.0393	.	.	.	0.09310	N	0.999991	P;P	0.45531	0.86;0.86	B;B	0.37198	0.243;0.243	T	0.03619	-1.1019	8	0.72032	D	0.01	-7.5995	14.4057	0.67081	0.0705:0.0:0.9295:0.0	.	48;41	Q5T0Z7;Q9C010	.;IPKB_HUMAN	R	41;41;41;41;48;41;50	.	ENSP00000258014:G48R	G	+	1	0	PKIB	123080759	1.000000	0.71417	0.003000	0.11579	0.138000	0.21146	4.733000	0.62036	1.530000	0.49136	0.655000	0.94253	GGA	PKIB	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI		0.502	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIB	HGNC	protein_coding	OTTHUMT00000042035.1	G			123039060	1	no_errors	ENST00000368446	ensembl	human	known	70_37	missense	SNP	0.059	A	A	123039060	G	A	123039060	3	1	154	1	0	0	0	0	1	0	0	0	11998	1117	39	2	123	2	PKIB	6	123039060	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5396574	123039060	48076007	137	27555										
TRDN	10345	genome.wustl.edu	37	chr6	123590999	123590999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctattcatctcttacttgttGgtttgggcttggctgtggag	12	7	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:123590999G>A	ENST00000398178.3	-	31	1754	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	TRDN_ENST00000334268.4_Missense_Mutation_p.P578L	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	578					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTACTTGTTGGTTTGGGCTT	0.323																																																	0													143	143	143					6																	123590999		1869	4100	5969	SO:0001583	missense	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1733C>T	6.37:g.123590999G>A	ENSP00000381240:p.Pro578Leu		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.P578L	ENST00000398178.3	37	c.1733	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274114	0.59649	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.17528	2.27;2.27	4.56	2.7	0.31948	.	0.371858	0.19871	N	0.104187	T	0.03477	0.0100	N	0.19112	0.55	0.80722	D	1	B	0.18863	0.031	B	0.14578	0.011	T	0.23940	-1.0174	10	0.41790	T	0.15	-0.6433	5.4149	0.16368	0.1038:0.0:0.6975:0.1987	.	578	Q13061	TRDN_HUMAN	L	578;580;578	ENSP00000381240:P578L;ENSP00000333984:P578L	ENSP00000333984:P578L	P	-	2	0	TRDN	123632698	0.985000	0.35326	0.988000	0.46212	0.856000	0.48823	0.972000	0.29409	0.581000	0.29539	0.650000	0.86243	CCA	TRDN	-	NULL		0.323	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		G			123590999	-1	no_errors	ENST00000398178	ensembl	human	known	70_37	missense	SNP	0.995	A	A	123590999	G	A	123590999	3	1	154	1	0	0	0	0	1	0	0	0	16499	1348	47	4	500	4	TRDN	6	123590999	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	551939	123590999	47524068	138	27556										
AKAP7	9465	genome.wustl.edu	37	chr6	131466535	131466535	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acatgccatttgctactgtaGatattcaggatgactgtgga	10	7	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr6:131466535G>C	ENST00000431975.2	+	2	228	c.130G>C	c.(130-132)Gat>Cat	p.D44H	AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.D43H|AKAP7_ENST00000368123.4_Missense_Mutation_p.D22H	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	44						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGCTACTGTAGATATTCAGGA	0.299																																																	0													153	152	152					6																	131466535		2203	4295	6498	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.130G>C	6.37:g.131466535G>C	ENSP00000405252:p.Asp44His		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.D22H	ENST00000431975.2	37	c.64	CCDS5142.2	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542647	0.65198	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.37411	1.27;1.22;1.2	5.15	4.28	0.50868	Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.400747	0.25299	N	0.031675	T	0.28732	0.0712	L	0.32530	0.975	0.36601	D	0.874696	D	0.71674	0.998	P	0.58013	0.831	T	0.19289	-1.0310	10	0.87932	D	0	-6.2839	9.4943	0.38978	0.0949:0.0:0.9051:0.0	.	44	Q9P0M2	AKA7G_HUMAN	H	44;43;22	ENSP00000405252:D44H;ENSP00000441048:D43H;ENSP00000357105:D22H	ENSP00000357105:D22H	D	+	1	0	AKAP7	131508228	1.000000	0.71417	0.961000	0.40146	0.885000	0.51271	2.386000	0.44380	1.540000	0.49301	0.655000	0.94253	GAT	AKAP7	-	pfam_Kinase-A_anchor_nucl_local_sig		0.299	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2	G	NM_004842		131466535	1	no_errors	ENST00000368123	ensembl	human	known	70_37	missense	SNP	0.983	C	C	131466535	G	C	131466535	3	2	154	1	0	0	0	0	1	0	0	0	456	942	33	1	66	1	AKAP7	6	131466535	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7875536	131466535	39648532	139	27557										
SDK1	221935	genome.wustl.edu	37	chr7	4260916	4260916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctggtcaccaagtccgcctCtgaactgacgctgcagtgga	11	14	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:4260916C>G	ENST00000404826.2	+	40	5886	c.5747C>G	c.(5746-5748)tCt>tGt	p.S1916C	SDK1_ENST00000389531.3_Missense_Mutation_p.S1896C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1916	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGTCCGCCTCTGAACTGACG	0.622																																																	0													64	53	57					7																	4260916		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5747C>G	7.37:g.4260916C>G	ENSP00000385899:p.Ser1916Cys		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1916C	ENST00000404826.2	37	c.5747	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822086	0.50739	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.59906	0.23;0.23	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.81178	0.4768	M	0.90145	3.09	0.51482	D	0.999927	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.85850	0.1403	10	0.87932	D	0	.	18.2063	0.89855	0.0:1.0:0.0:0.0	.	1896;403;1916	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	C	1916;164;1896	ENSP00000385899:S1916C;ENSP00000374182:S1896C	ENSP00000374182:S1896C	S	+	2	0	SDK1	4227442	1.000000	0.71417	0.956000	0.39512	0.068000	0.16541	5.769000	0.68865	2.273000	0.75805	0.655000	0.94253	TCT	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		4260916	1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4260916	C	G	4260916	3	3	154	1	0	0	0	0	1	0	0	0	13998	913	32	1	5905	1	SDK1	7	4260916	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		4260916	154877747	140	27558										
PMS2	5395	genome.wustl.edu	37	chr7	6018285	6018285	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aatatttccagattttctatCagaacagcttcattaacagc	4	9	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:6018285C>T	ENST00000265849.7	-	13	2322	c.2217G>A	c.(2215-2217)ctG>ctA	p.L739L	PMS2_ENST00000382321.4_Silent_p.L338L|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Silent_p.L633L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	739					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GATTTTCTATCAGAACAGCTT	0.343			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													56	48	51					7																	6018285		2197	4280	6477	SO:0001819	synonymous_variant	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2217G>A	7.37:g.6018285C>T			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.L739	ENST00000265849.7	37	c.2217	CCDS5343.1	7																																																																																			PMS2	-	pfam_MutL_C,smart_MutL_C		0.343	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	C	NM_000535		6018285	-1	no_errors	ENST00000265849	ensembl	human	known	70_37	silent	SNP	0.988	T	T	6018285	C	T	6018285	2	4	154	1	0	0	0	0	0	0	0	1	12167	813	29	1		1	PMS2	7	6018285	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1757369	6018285	153120378	141	27559										
CREB5	9586	genome.wustl.edu	37	chr7	28843919	28843919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gggctcccggcaggaccagaCgccacaccatcacatgcact	10	17	1	1	rs565546192		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:28843919C>T	ENST00000357727.2	+	8	1196	c.806C>T	c.(805-807)aCg>aTg	p.T269M	CREB5_ENST00000396299.2_Missense_Mutation_p.T236M|CREB5_ENST00000409603.1_Missense_Mutation_p.T236M|CREB5_ENST00000396300.2_Missense_Mutation_p.T262M|CREB5_ENST00000396298.2_Missense_Mutation_p.T130M	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	269					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CAGGACCAGACGccacaccat	0.582																																																	0													462	293	351					7																	28843919		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.806C>T	7.37:g.28843919C>T	ENSP00000350359:p.Thr269Met		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.T269M	ENST00000357727.2	37	c.806	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655786	0.67586	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.64438	-0.09;-0.09;-0.08;-0.09;-0.1	5.63	5.63	0.86233	.	0.145224	0.64402	D	0.000009	T	0.59088	0.2168	L	0.36672	1.1	0.50813	D	0.999897	D;D	0.61080	0.989;0.989	B;B	0.44315	0.446;0.446	T	0.62172	-0.6910	10	0.51188	T	0.08	-12.9965	19.7368	0.96210	0.0:1.0:0.0:0.0	.	130;269	B4DU13;Q02930	.;CREB5_HUMAN	M	236;269;262;236;95;130	ENSP00000379593:T236M;ENSP00000350359:T269M;ENSP00000379594:T262M;ENSP00000387197:T236M;ENSP00000379592:T130M	ENSP00000350359:T269M	T	+	2	0	CREB5	28810444	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.089000	0.50183	2.679000	0.91253	0.549000	0.68633	ACG	CREB5	-	pirsf_TF_cAMP-dep		0.582	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28843919	1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28843919	C	T	28843919	3	4	154	1	0	0	0	0	1	0	0	0	3865	536	19	2	887	2	CREB5	7	28843919	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	22825634	28843919	130294744	142	27560										
PLEKHA8	84725	genome.wustl.edu	37	chr7	30092483	30092483	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tacagatgataatataacagGtaaaaacaaaagtaaagtct	6	4	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:30092483G>C	ENST00000449726.1	+	7	1146		c.e7+1		PLEKHA8_ENST00000396257.2_Splice_Site|PLEKHA8_ENST00000258679.7_Splice_Site|PLEKHA8_ENST00000396259.1_Splice_Site	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8						ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AATATAACAGGTAAAAACAAA	0.299																																																	0													33	31	31					7																	30092483		2178	4291	6469	SO:0001630	splice_region_variant	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.796+1G>C	7.37:g.30092483G>C			B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Splice_Site	SNP	-	e7+1	ENST00000449726.1	37	c.796+1	CCDS56473.1	7	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090567	0.76756	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8923	0.86090	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA8	30059008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.582000	0.67477	2.768000	0.95171	0.655000	0.94253	.	PLEKHA8	-	-		0.299	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA8	HGNC	protein_coding		G	NM_032639	Intron	30092483	1	no_errors	ENST00000449726	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	30092483	G	C	30092483	5	2	154	1	0	0	0	0	0	0	1	0	12086	1275	44	4	823	4	PLEKHA8	7	30092483	Splice_Site	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1248564	30092483	129046180	143	27561										
CRHR2	1395	genome.wustl.edu	37	chr7	30704803	30704803	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttccgcagacagcgaatgctCctgtgggaggtgcaggtcag	15	10	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:30704803C>T	ENST00000471646.1	-	5	843	c.426G>A	c.(424-426)cgG>cgA	p.R142R	CRHR2_ENST00000348438.4_Splice_Site_p.R169R|CRHR2_ENST00000506074.2_Splice_Site_p.R142R|CRHR2_ENST00000341843.4_Splice_Site_p.R128R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	142					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCGAATGCTCCTGTGGGAGG	0.577																																																	0													85	69	74					7																	30704803		2203	4300	6503	SO:0001630	splice_region_variant	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.426-1G>A	7.37:g.30704803C>T			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.R169	ENST00000471646.1	37	c.507	CCDS5429.1	7																																																																																			CRHR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like		0.577	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	HGNC	protein_coding	OTTHUMT00000250448.3	C		Silent	30704803	-1	no_errors	ENST00000348438	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30704803	C	T	30704803	5	4	154	1	0	0	0	0	0	0	1	0	3877	869	30	1	841	1	CRHR2	7	30704803	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	612320	30704803	128433860	144	27562										
AEBP1	165	genome.wustl.edu	37	chr7	44149878	44149878	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atgccaggacccagtggataGaggtggacaccaggaggact	15	9	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:44149878G>C	ENST00000223357.3	+	11	1638	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	445	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGTGGATAGAGGTGGACAC	0.622																																																	0													120	102	108					7																	44149878		2203	4300	6503	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1333G>C	7.37:g.44149878G>C	ENSP00000223357:p.Glu445Gln		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E445Q	ENST00000223357.3	37	c.1333	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847125	0.32606	.	.	ENSG00000106624	ENST00000223357	D	0.97665	-4.48	5.11	5.11	0.69529	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.130424	0.52532	D	0.000076	D	0.91168	0.7218	N	0.01146	-0.985	0.80722	D	1	P	0.38223	0.623	P	0.44647	0.456	D	0.91507	0.5224	10	0.27082	T	0.32	-40.0163	14.6411	0.68726	0.0:0.1464:0.8536:0.0	.	445	Q8IUX7	AEBP1_HUMAN	Q	445	ENSP00000223357:E445Q	ENSP00000223357:E445Q	E	+	1	0	AEBP1	44116403	1.000000	0.71417	0.963000	0.40424	0.792000	0.44763	4.537000	0.60643	2.389000	0.81357	0.462000	0.41574	GAG	AEBP1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	G	NM_001129		44149878	1	no_errors	ENST00000223357	ensembl	human	known	70_37	missense	SNP	0.974	C	C	44149878	G	C	44149878	3	2	154	1	0	0	0	0	1	0	0	0	349	943	33	1	1375	1	AEBP1	7	44149878	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	13445075	44149878	114988785	145	27563										
YKT6	10652	genome.wustl.edu	37	chr7	44246081	44246081	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtggcctttaccttgctggaGaaggtgagttttttatttgc	12	6	0	2	rs571774649		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:44246081G>A	ENST00000223369.2	+	3	372	c.285G>A	c.(283-285)gaG>gaA	p.E95E	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E95E	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	95	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						CCTTGCTGGAGAAGGTGAGTT	0.493																																																	0													147	120	129					7																	44246081		2203	4300	6503	SO:0001819	synonymous_variant	10652			BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"R-SNARE"	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.285G>A	7.37:g.44246081G>A			B4DR94|Q53F01|Q6FGU9|Q6IB15	Silent	SNP	pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin	p.E95	ENST00000223369.2	37	c.285	CCDS5482.1	7																																																																																			YKT6	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.493	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YKT6	HGNC	protein_coding	OTTHUMT00000251125.2	G	NM_006555		44246081	1	no_errors	ENST00000223369	ensembl	human	known	70_37	silent	SNP	0.996	A	A	44246081	G	A	44246081	2	1	154	1	0	0	0	0	0	0	0	1	17516	933	33	1		1	YKT6	7	44246081	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	96203	44246081	114892582	146	27564										
HIP1	3092	genome.wustl.edu	37	chr7	75221789	75221789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggcggttgacaacagaccaGaaggtctgtgcccctttctc	11	12	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:75221789G>C	ENST00000336926.6	-	3	254	c.228C>G	c.(226-228)ttC>ttG	p.F76L	HIP1_ENST00000434438.2_Missense_Mutation_p.F76L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	76	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAACAGACCAGAAGGTCTGTG	0.577			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													77	61	67					7																	75221789		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.228C>G	7.37:g.75221789G>C	ENSP00000336747:p.Phe76Leu		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.F76L	ENST00000336926.6	37	c.228	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460801	0.84317	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.33865	1.39;1.39;1.39	5.61	-6.17	0.02091	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.79258	2.445	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.66208	-0.5981	10	0.54805	T	0.06	-17.2123	19.539	0.95267	0.1502:0.0:0.8498:0.0	.	76	O00291	HIP1_HUMAN	L	76;76;47	ENSP00000336747:F76L;ENSP00000410300:F76L;ENSP00000414280:F47L	ENSP00000336747:F76L	F	-	3	2	HIP1	75059725	1.000000	0.71417	0.782000	0.31804	0.958000	0.62258	0.947000	0.29082	-1.276000	0.02414	-1.031000	0.02408	TTC	HIP1	-	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N		0.577	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75221789	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	missense	SNP	0.994	C	C	75221789	G	C	75221789	3	2	154	1	0	0	0	0	1	0	0	0	7134	933	33	1	3001	1	HIP1	7	75221789	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	30975708	75221789	83916874	147	27565										
SLC25A40	55972	genome.wustl.edu	37	chr7	87487978	87487978	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcagtatagctccagtacatGaggcaagcatttgttgaaga	10	7	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:87487978G>C	ENST00000341119.5	-	3	411	c.65C>G	c.(64-66)tCa>tGa	p.S22*		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	22					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCAGTACATGAGGCAAGCAT	0.328																																																	0													146	138	140					7																	87487978		2203	4300	6503	SO:0001587	stop_gained	55972			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"Solute carriers"	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.65C>G	7.37:g.87487978G>C	ENSP00000344831:p.Ser22*		A8K483|D6W5P6|Q53GB1|Q9UHR1	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S22*	ENST00000341119.5	37	c.65	CCDS5610.1	7	.	.	.	.	.	.	.	.	.	.	G	38	6.756789	0.97817	.	.	ENSG00000075303	ENST00000341119	.	.	.	5.43	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.956	11.3036	0.49320	0.0851:0.0:0.9149:0.0	.	.	.	.	X	22	.	ENSP00000344831:S22X	S	-	2	0	SLC25A40	87325914	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	5.444000	0.66587	1.423000	0.47198	0.650000	0.86243	TCA	SLC25A40	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.328	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A40	HGNC	protein_coding	OTTHUMT00000253677.5	G	NM_018843		87487978	-1	no_errors	ENST00000341119	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	87487978	G	C	87487978	4	2	154	1	0	0	0	0	0	1	0	0	14535	1294	45	1	991	1	SLC25A40	7	87487978	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	12266189	87487978	71650685	148	27566										
TECPR1	25851	genome.wustl.edu	37	chr7	97852404	97852404	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcccctcggcacccgggctCtccgggatgatggacacgtc	12	17	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:97852404C>G	ENST00000447648.2	-	21	3125	c.2826G>C	c.(2824-2826)gaG>gaC	p.E942D	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.E944D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	942					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCCGGGCTCTCCGGGATGA	0.672																																																	0													18	24	22					7																	97852404		2030	4160	6190	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2826G>C	7.37:g.97852404C>G	ENSP00000404923:p.Glu942Asp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.E944D	ENST00000447648.2	37	c.2832	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	C	4.257	0.046808	0.08243	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.29142	1.58;1.58	4.05	3.17	0.36434	.	0.178994	0.49305	D	0.000141	T	0.16385	0.0394	L	0.28274	0.84	0.80722	D	1	B	0.31769	0.339	B	0.27076	0.076	T	0.05886	-1.0858	10	0.14656	T	0.56	-43.2368	7.6768	0.28490	0.0:0.8871:0.0:0.1129	.	942	Q7Z6L1	TCPR1_HUMAN	D	942;944	ENSP00000404923:E942D;ENSP00000369121:E944D	ENSP00000369121:E944D	E	-	3	2	TECPR1	97690340	0.828000	0.29307	0.962000	0.40283	0.390000	0.30446	1.330000	0.33781	1.304000	0.44892	0.561000	0.74099	GAG	TECPR1	-	smart_Beta-propeller_rpt_TECPR		0.672	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	C	NM_015395		97852404	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	missense	SNP	0.995	G	G	97852404	C	G	97852404	3	3	154	1	0	0	0	0	1	0	0	0	15773	912	32	1	695	1	TECPR1	7	97852404	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	10364426	97852404	61286259	149	27567										
TFR2	7036	genome.wustl.edu	37	chr7	100218699	100218699	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggcccatgaagatgtggcgGaacggggagtcggctggcga	19	9	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:100218699G>A	ENST00000462107.1	-	19	2474	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	TFR2_ENST00000544242.1_Silent_p.F270F|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.F729F			Q9UP52	TFR2_HUMAN	transferrin receptor 2	729					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AGATGTGGCGGAACGGGGAGT	0.682																																																	0													17	19	18					7																	100218699		2163	4262	6425	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2187C>T	7.37:g.100218699G>A			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.F729	ENST00000462107.1	37	c.2187	CCDS34707.1	7																																																																																			TFR2	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.682	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	G	NM_003227		100218699	-1	no_errors	ENST00000223051	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100218699	G	A	100218699	2	1	154	1	0	0	0	0	0	0	0	1	15841	1165	41	1		1	TFR2	7	100218699	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2366295	100218699	58919964	150	27568										
FLNC	2318	genome.wustl.edu	37	chr7	128475570	128475570	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cagctgcccatcaccaacttCaaccgtgactggcaggacgg	10	15	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:128475570C>T	ENST00000325888.8	+	2	804	c.543C>T	c.(541-543)ttC>ttT	p.F181F	FLNC_ENST00000346177.6_Silent_p.F181F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	181	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACCAACTTCAACCGTGACT	0.627																																																	0													50	59	56					7																	128475570		2161	4273	6434	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.543C>T	7.37:g.128475570C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F181	ENST00000325888.8	37	c.543	CCDS43644.1	7																																																																																			FLNC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128475570	1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128475570	C	T	128475570	2	4	154	1	0	0	0	0	0	0	0	1	5953	825	29	1		1	FLNC	7	128475570	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	28256871	128475570	30663093	151	27569										
DENND2A	27147	genome.wustl.edu	37	chr7	140301267	140301267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gttcacagaggaaggtggggGagaggagggcagaggcgggg	24	4	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:140301267G>A	ENST00000275884.6	-	2	1348	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	DENND2A_ENST00000537639.1_Missense_Mutation_p.P311S|DENND2A_ENST00000496613.1_Missense_Mutation_p.P311S|DENND2A_ENST00000492720.1_Missense_Mutation_p.P311S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	311					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P311T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					gaaggtgggggagaggagggc	0.592																																																	1	Substitution - Missense(1)	lung(1)											45	49	48					7																	140301267		1978	4152	6130	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.931C>T	7.37:g.140301267G>A	ENSP00000275884:p.Pro311Ser		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P311S	ENST00000275884.6	37	c.931	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884481	0.51908	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.12569	3.4;3.4;3.4;2.67	4.85	4.85	0.62838	.	0.068945	0.64402	D	0.000013	T	0.34658	0.0905	M	0.76574	2.34	0.58432	D	0.999997	D;B	0.62365	0.991;0.112	P;B	0.61722	0.893;0.082	T	0.03957	-1.0989	10	0.27082	T	0.32	-13.5724	18.1513	0.89675	0.0:0.0:1.0:0.0	.	311;311	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	311	ENSP00000275884:P311S;ENSP00000442245:P311S;ENSP00000419654:P311S;ENSP00000419464:P311S	ENSP00000275884:P311S	P	-	1	0	DENND2A	139947736	1.000000	0.71417	0.946000	0.38457	0.939000	0.58152	7.471000	0.80985	2.519000	0.84933	0.462000	0.41574	CCC	DENND2A	-	NULL		0.592	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	G	NM_015689		140301267	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140301267	G	A	140301267	3	1	154	1	0	0	0	0	1	0	0	0	4439	1174	41	1	2170	1	DENND2A	7	140301267	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	11825697	140301267	18837396	152	27570										
CNTNAP2	26047	genome.wustl.edu	37	chr7	147844759	147844759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agatccgcaaggccccaacaGaaggccacacccgcctggag	11	16	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:147844759G>A	ENST00000361727.3	+	17	3247	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	911	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCCCAACAGAAGGCCACAC	0.552										HNSCC(39;0.1)																																							0													63	61	62					7																	147844759		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2731G>A	7.37:g.147844759G>A	ENSP00000354778:p.Glu911Lys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E911K	ENST00000361727.3	37	c.2731	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864714	0.71949	.	.	ENSG00000174469	ENST00000361727	T	0.79247	-1.25	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.060596	0.64402	D	0.000002	T	0.66025	0.2748	N	0.25485	0.75	0.80722	D	1	B	0.21452	0.056	B	0.25405	0.06	T	0.60311	-0.7288	10	0.17832	T	0.49	.	13.6997	0.62602	0.0:0.1545:0.8455:0.0	.	911	Q9UHC6	CNTP2_HUMAN	K	911	ENSP00000354778:E911K	ENSP00000354778:E911K	E	+	1	0	CNTNAP2	147475692	1.000000	0.71417	0.649000	0.29536	0.959000	0.62525	4.780000	0.62382	2.583000	0.87209	0.561000	0.74099	GAA	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.552	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			147844759	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	0.982	A	A	147844759	G	A	147844759	3	1	154	1	0	0	0	0	1	0	0	0	3652	943	33	1	2797	1	CNTNAP2	7	147844759	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7543492	147844759	11293904	153	27571										
ZNF786	136051	genome.wustl.edu	37	chr7	148768366	148768366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctccccaccgtgccggagccGgtgggctctcagcatgctct	12	17	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:148768366G>A	ENST00000491431.1	-	4	1562	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	ZNF786_ENST00000451334.3_Missense_Mutation_p.R463W|ZNF786_ENST00000316286.9_Missense_Mutation_p.R414W	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCCGGAGCCGGTGGGCTCTC	0.657																																																	0													33	37	36					7																	148768366		2124	4250	6374	SO:0001583	missense	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1498C>T	7.37:g.148768366G>A	ENSP00000417470:p.Arg500Trp		A1A568|B4DMI1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R500W	ENST00000491431.1	37	c.1498	CCDS47738.1	7	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923135	0.52653	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.18810	2.19;2.19;2.19	4.3	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.542019	0.13948	N	0.351747	T	0.42494	0.1205	M	0.86805	2.84	0.24330	N	0.995009	D	0.89917	1.0	P	0.58266	0.836	T	0.25117	-1.0141	10	0.72032	D	0.01	-1.8437	8.4616	0.32931	0.0:0.3168:0.52:0.1632	.	500	Q8N393	ZN786_HUMAN	W	414;500;463	ENSP00000313516:R414W;ENSP00000417470:R500W;ENSP00000404984:R463W	ENSP00000313516:R414W	R	-	1	2	ZNF786	148399299	0.000000	0.05858	0.054000	0.19295	0.085000	0.17905	-0.134000	0.10436	0.064000	0.16427	0.563000	0.77884	CGG	ZNF786	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	G	NM_152411		148768366	-1	no_errors	ENST00000491431	ensembl	human	known	70_37	missense	SNP	0.577	A	A	148768366	G	A	148768366	3	1	154	1	0	0	0	0	1	0	0	0	18188	1115	39	2	854	2	ZNF786	7	148768366	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	923607	148768366	10370297	154	27572										
TMEM176A	55365	genome.wustl.edu	37	chr7	150500755	150500755	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcagctttctccacagccatCgctgccctcaaactttggaa	7	15	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:150500755C>T	ENST00000484928.1	+	5	971	c.390C>T	c.(388-390)atC>atT	p.I130I	TMEM176A_ENST00000461345.1_Silent_p.I71I|TMEM176A_ENST00000004103.3_Silent_p.I130I|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	130					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACAGCCATCGCTGCCCTCA	0.532																																																	0													78	82	81					7																	150500755		2203	4300	6503	SO:0001819	synonymous_variant	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.390C>T	7.37:g.150500755C>T			D3DX00|Q9NYC7	Silent	SNP	pfam_CD20-like	p.I130	ENST00000484928.1	37	c.390	CCDS5909.1	7																																																																																			TMEM176A	-	pfam_CD20-like		0.532	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	HGNC	protein_coding	OTTHUMT00000350222.1	C	NM_018487		150500755	1	no_errors	ENST00000004103	ensembl	human	known	70_37	silent	SNP	0.000	T	T	150500755	C	T	150500755	2	4	154	1	0	0	0	0	0	0	0	1	16122	874	31	1		1	TMEM176A	7	150500755	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1732389	150500755	8637908	155	27573										
SMARCD3	6604	genome.wustl.edu	37	chr7	150936713	150936713	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgagtctccctcttcaccttGaggtcccggctctgggagcg	12	14	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr7:150936713G>C	ENST00000262188.8	-	11	1703	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	SMARCD3_ENST00000392811.2_Silent_p.L418L|RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000356800.2_Silent_p.L418L	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	431					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTTCACCTTGAGGTCCCGGC	0.557																																																	0													97	103	101					7																	150936713		2203	4300	6503	SO:0001819	synonymous_variant	6604			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1293C>G	7.37:g.150936713G>C			D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.L431	ENST00000262188.8	37	c.1293	CCDS34780.1	7																																																																																			SMARCD3	-	NULL		0.557	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	G	NM_001003801		150936713	-1	no_errors	ENST00000262188	ensembl	human	known	70_37	silent	SNP	0.983	C	C	150936713	G	C	150936713	2	2	154	1	0	0	0	0	0	0	0	1	14809	1277	45	1		1	SMARCD3	7	150936713	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	435958	150936713	8201950	156	27574										
XPO7	23039	genome.wustl.edu	37	chr8	21845357	21845357	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	accatggtcctaagcgtcttCataggaaaaatgtaagtgtt	9	7	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:21845357C>T	ENST00000252512.9	+	15	1876	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	XPO7_ENST00000434536.1_Silent_p.F601F|XPO7_ENST00000433566.4_Silent_p.F593F	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	592					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TAAGCGTCTTCATAGGAAAAA	0.458																																																	0													107	101	103					8																	21845357		1965	4151	6116	SO:0001819	synonymous_variant	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1776C>T	8.37:g.21845357C>T			O94846|Q6PJK9|Q8NEK7	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F601	ENST00000252512.9	37	c.1803	CCDS47818.1	8																																																																																			XPO7	-	superfamily_ARM-type_fold		0.458	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	C	NM_015024		21845357	1	no_errors	ENST00000434536	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21845357	C	T	21845357	2	4	154	1	0	0	0	0	0	0	0	1	17480	825	29	1		1	XPO7	8	21845357	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		21845357	124518665	157	27575										
EPHX2	2053	genome.wustl.edu	37	chr8	27373884	27373884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgggtcctagctatggacatGaaaggctatggagagtcatc	13	8	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:27373884G>A	ENST00000521400.1	+	8	1309	c.879G>A	c.(877-879)atG>atA	p.M293I	EPHX2_ENST00000380476.3_Missense_Mutation_p.M240I|EPHX2_ENST00000518379.1_Missense_Mutation_p.M261I|EPHX2_ENST00000521780.1_Missense_Mutation_p.M227I|EPHX2_ENST00000517536.1_Missense_Mutation_p.M110I	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	293	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CTATGGACATGAAAGGCTATG	0.567											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													364	306	326					8																	27373884		2203	4300	6503	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.879G>A	8.37:g.27373884G>A	ENSP00000430269:p.Met293Ile	793	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.M293I	ENST00000521400.1	37	c.879	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766603	0.90020	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.03889	3.77;3.77;3.77;3.77;3.77	5.67	5.67	0.87782	Alpha/beta hydrolase fold-1 (2);	0.033201	0.85682	D	0.000000	T	0.20659	0.0497	M	0.77313	2.365	0.80722	D	1	P;D;D	0.60575	0.831;0.988;0.964	P;P;P	0.61592	0.793;0.836;0.891	T	0.00045	-1.2218	10	0.54805	T	0.06	-0.0048	17.2762	0.87116	0.0:0.0:1.0:0.0	.	261;293;293	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	I	293;110;227;240;297;261	ENSP00000430269:M293I;ENSP00000428875:M110I;ENSP00000430302:M227I;ENSP00000369843:M240I;ENSP00000427956:M261I	ENSP00000369843:M240I	M	+	3	0	EPHX2	27429801	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.314000	0.78988	2.677000	0.91161	0.561000	0.74099	ATG	EPHX2	-	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1		0.567	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	G			27373884	1	no_errors	ENST00000521400	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27373884	G	A	27373884	3	1	154	1	0	0	0	0	1	0	0	0	5192	1290	45	1	909	1	EPHX2	8	27373884	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5528527	27373884	118990138	158	27576										
ADAM9	8754	genome.wustl.edu	37	chr8	38883375	38883375	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atttgtgggaacagtgtgttCaaggagccacgcaggcggga	16	7	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:38883375C>G	ENST00000487273.2	+	10	1046	c.968C>G	c.(967-969)tCa>tGa	p.S323*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	323	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACAGTGTGTTCAAGGAGCCAC	0.383																																																	0													219	195	203					8																	38883375		2203	4300	6503	SO:0001587	stop_gained	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.968C>G	8.37:g.38883375C>G	ENSP00000419446:p.Ser323*		B7ZLN7|Q10718|Q8NFM6	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.S323*	ENST00000487273.2	37	c.968	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.921694	0.97936	.	.	ENSG00000168615	ENST00000487273	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.2907	0.94098	0.0:1.0:0.0:0.0	.	.	.	.	X	323	.	ENSP00000369249:S323X	S	+	2	0	ADAM9	39002532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.575000	0.86900	0.655000	0.94253	TCA	ADAM9	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.383	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	C			38883375	1	no_errors	ENST00000487273	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	38883375	C	G	38883375	4	3	154	1	0	0	0	0	0	1	0	0	253	838	29	1	1006	1	ADAM9	8	38883375	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	11509491	38883375	107480647	159	27577										
IDO2	169355	genome.wustl.edu	37	chr8	39847324	39847324	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcgactgagactgtctattCaggacatcaccaaaacctta	7	11	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:39847324C>T	ENST00000389060.4	+	7	634	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Nonsense_Mutation_p.Q225*|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	212					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACTGTCTATTCAGGACATCAC	0.562											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	70	71					8																	39847324		1993	4176	6169	SO:0001587	stop_gained	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.634C>T	8.37:g.39847324C>T	ENSP00000426447:p.Gln212*	889	A4UD41	Nonsense_Mutation	SNP	pfam_Indolamine_dOase	p.Q225*	ENST00000389060.4	37	c.673		8	.	.	.	.	.	.	.	.	.	.	C	35	5.422339	0.96111	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	.	.	.	5.67	3.79	0.43588	.	0.867769	0.10162	N	0.708259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6245	0.28204	0.1603:0.6063:0.2334:0.0	.	.	.	.	X	225;212	.	.	Q	+	1	0	IDO2	39966481	0.742000	0.28228	0.971000	0.41717	0.784000	0.44337	0.094000	0.15107	1.339000	0.45563	0.467000	0.42956	CAG	IDO2	-	pfam_Indolamine_dOase		0.562	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	C	NM_194294		39847324	1	no_errors	ENST00000502986	ensembl	human	known	70_37	nonsense	SNP	0.992	T	T	39847324	C	T	39847324	4	4	154	1	0	0	0	0	0	1	0	0	7522	827	29	1	703	1	IDO2	8	39847324	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	963949	39847324	106516698	160	27578										
NSMAF	8439	genome.wustl.edu	37	chr8	59518528	59518528	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atagagatcatctctatcttGaggttcatagaactttaggt	8	6	4	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:59518528G>C	ENST00000038176.3	-	12	1038	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.Q307E	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	276					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTATCTTGAGGTTCATAG	0.333																																																	0													80	78	78					8																	59518528		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.826C>G	8.37:g.59518528G>C	ENSP00000038176:p.Gln276Glu		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q307E	ENST00000038176.3	37	c.919	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	G	8.819	0.937105	0.18206	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.52526	0.67;0.66	5.17	4.23	0.50019	BEACH domain (1);PH-BEACH domain (1);	0.318271	0.36167	N	0.002759	T	0.26231	0.0640	N	0.08118	0	0.35276	D	0.780926	B;B;B	0.24368	0.102;0.001;0.001	B;B;B	0.24541	0.054;0.003;0.003	T	0.26430	-1.0103	9	.	.	.	.	12.7596	0.57356	0.0:0.0:0.7143:0.2857	.	307;276;276	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	E	276;307	ENSP00000038176:Q276E;ENSP00000411012:Q307E	.	Q	-	1	0	NSMAF	59681082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.597000	0.46214	2.579000	0.87056	0.655000	0.94253	CAA	NSMAF	-	superfamily_BEACH_dom		0.333	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	G	NM_003580		59518528	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59518528	G	C	59518528	3	2	154	1	0	0	0	0	1	0	0	0	10698	1299	45	1	2007	1	NSMAF	8	59518528	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	19671204	59518528	86845494	161	27579										
RRS1	23212	genome.wustl.edu	37	chr8	67342458	67342458	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgcccaggaggaaagaggagGaagtaatagtttctaactgt	13	6	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:67342458G>A	ENST00000320270.2	+	1	1196	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000396623.3_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	364	Arg/Gly/Lys-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAAAGAGGAGGAAGTAATAGT	0.507																																																	0													81	99	93					8																	67342458		2191	4287	6478	SO:0001819	synonymous_variant	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.1092G>A	8.37:g.67342458G>A			Q9BUX8	Silent	SNP	pfam_Ribosom_reg	p.R364	ENST00000320270.2	37	c.1092	CCDS6189.1	8																																																																																			RRS1	-	NULL		0.507	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	G	NM_015169		67342458	1	no_errors	ENST00000320270	ensembl	human	known	70_37	silent	SNP	0.976	A	A	67342458	G	A	67342458	2	1	154	1	0	0	0	0	0	0	0	1	13722	1165	41	1		1	RRS1	8	67342458	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7823930	67342458	79021564	162	27580										
SGK3	23678	genome.wustl.edu	37	chr8	67748196	67748196	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcaaaaacatattatggctGaacgtaatgtgctcttgaaa	8	6	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:67748196G>A	ENST00000396596.1	+	10	842	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	SGK3_ENST00000521198.2_Missense_Mutation_p.E210K|SGK3_ENST00000345714.4_Missense_Mutation_p.E210K|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.E210K|SGK3_ENST00000522398.1_Missense_Mutation_p.E210K|SGK3_ENST00000520976.1_Missense_Mutation_p.E210K	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTATGGCTGAACGTAATGT	0.328																																																	0													112	113	112					8																	67748196		2202	4298	6500	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.628G>A	8.37:g.67748196G>A	ENSP00000379842:p.Glu210Lys		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.E210K	ENST00000396596.1	37	c.628	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.500503	0.96355	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;D	0.84873	1.28;1.28;1.28;1.28;1.28;1.28;1.28;-1.91	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094910	0.64402	D	0.000001	D	0.93864	0.8037	M	0.88704	2.975	0.42758	D	0.993797	D;D	0.71674	0.986;0.998	P;D	0.72982	0.894;0.979	D	0.94306	0.7541	9	0.87932	D	0	.	19.9659	0.97266	0.0:0.0:1.0:0.0	.	210;210	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	K	210;210;210;210;210;210;210;92;107	ENSP00000429022:E210K;ENSP00000430463:E210K;ENSP00000430256:E210K;ENSP00000430691:E210K;ENSP00000379842:E210K;ENSP00000331816:E210K;ENSP00000428529:E92K;ENSP00000429565:E107K	ENSP00000262211:E210K	E	+	1	0	SGK3	67910750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.719000	0.93026	0.650000	0.86243	GAA	SGK3	-	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		0.328	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	G			67748196	1	no_errors	ENST00000262211	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67748196	G	A	67748196	3	1	154	1	0	0	0	0	1	0	0	0	14242	1291	45	1	662	1	SGK3	8	67748196	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	405738	67748196	78615826	163	27581										
SGK3	23678	genome.wustl.edu	37	chr8	67748268	67748268	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	attattccttccaaacaactGaaaagctttattttgttctg	4	8	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:67748268G>A	ENST00000396596.1	+	10	914	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	SGK3_ENST00000521198.2_Missense_Mutation_p.E234K|SGK3_ENST00000345714.4_Missense_Mutation_p.E234K|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.E234K|SGK3_ENST00000522398.1_Missense_Mutation_p.E234K|SGK3_ENST00000520976.1_Missense_Mutation_p.E234K	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCAAACAACTGAAAAGCTTTA	0.308																																																	0													143	153	149					8																	67748268		2202	4300	6502	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.700G>A	8.37:g.67748268G>A	ENSP00000379842:p.Glu234Lys		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.E234K	ENST00000396596.1	37	c.700	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666501	0.88251	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.64618	3.14;3.14;3.14;3.14;3.14;3.14;3.14;-0.11	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147999	0.64402	D	0.000009	T	0.55847	0.1946	N	0.25332	0.735	0.33455	D	0.584133	B;B	0.18610	0.029;0.013	B;B	0.25759	0.037;0.063	T	0.55276	-0.8166	9	0.62326	D	0.03	.	19.9856	0.97347	0.0:0.0:1.0:0.0	.	234;234	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	K	234;234;234;234;234;234;234;116;131	ENSP00000429022:E234K;ENSP00000430463:E234K;ENSP00000430256:E234K;ENSP00000430691:E234K;ENSP00000379842:E234K;ENSP00000331816:E234K;ENSP00000428529:E116K;ENSP00000429565:E131K	ENSP00000262211:E234K	E	+	1	0	SGK3	67910822	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.824000	0.99380	2.724000	0.93272	0.655000	0.94253	GAA	SGK3	-	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		0.308	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	G			67748268	1	no_errors	ENST00000262211	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67748268	G	A	67748268	3	1	154	1	0	0	0	0	1	0	0	0	14242	1291	45	1	734	1	SGK3	8	67748268	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	72	67748268	78615754	164	27582										
CSPP1	10565	genome.wustl.edu	37	chr8	68107771	68107771	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgaaccaggagcagcagcaGattcctggaaaaccaggcac	11	12	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:68107771G>C	ENST00000262215.3	-	0	7225				ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'Flank|CSPP1_ENST00000262210.5_Missense_Mutation_p.Q1203H|CSPP1_ENST00000412460.1_Missense_Mutation_p.Q858H	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCAGCAGCAGATTCCTGGAA	0.517																																																	0													65	67	66					8																	68107771		1986	4175	6161	SO:0001628	intergenic_variant	79848			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107771G>C			Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	NULL	p.Q1203H	ENST00000262215.3	37	c.3609	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649663	0.29336	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31510	1.49;1.5;1.5	4.42	2.64	0.31445	.	0.637987	0.14553	N	0.312546	T	0.31765	0.0807	L	0.36672	1.1	0.80722	D	1	P;D;P	0.55605	0.911;0.972;0.899	P;P;P	0.52386	0.465;0.697;0.568	T	0.04796	-1.0926	10	0.51188	T	0.08	-2.1958	7.0428	0.25029	0.2023:0.0:0.7977:0.0	.	858;1203;1238	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	H	1203;1238;858;858	ENSP00000262210:Q1203H;ENSP00000415782:Q858H;ENSP00000430092:Q858H	ENSP00000262210:Q1203H	Q	+	3	2	CSPP1	68270325	0.004000	0.15560	0.998000	0.56505	0.611000	0.37282	-0.174000	0.09839	0.813000	0.34350	-0.145000	0.13849	CAG	CSPP1	-	NULL		0.517	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379441.4	G	NM_006421		68107771	1	no_errors	ENST00000262210	ensembl	human	known	70_37	missense	SNP	0.996	C	C	68107771	G	C	68107771	1	2	154	0	1	0	0	0	0	0	0	0	3967	933	33	1		1	CSPP1	8	68107771	IGR	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	359503	68107771	78256251	165	27583										
PREX2	80243	genome.wustl.edu	37	chr8	68968202	68968202	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctacgttccctaaatgctttCttggaaggtagggttgggag	13	7	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:68968202C>T	ENST00000288368.4	+	10	1508	c.1231C>T	c.(1231-1233)Ctt>Ttt	p.L411F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	411	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TAAATGCTTTCTTGGAAGGTA	0.368																																																	0													116	123	121					8																	68968202		2203	4300	6503	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1231C>T	8.37:g.68968202C>T	ENSP00000288368:p.Leu411Phe		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L411F	ENST00000288368.4	37	c.1231	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706425	0.68615	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.23950	1.88	5.69	5.69	0.88448	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.37571	0.1008	L	0.58669	1.825	0.80722	D	1	B;B;B	0.31611	0.331;0.036;0.089	B;B;B	0.43251	0.413;0.151;0.093	T	0.16424	-1.0403	10	0.72032	D	0.01	.	14.9593	0.71144	0.1427:0.8573:0.0:0.0	.	411;411;411	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	411	ENSP00000288368:L411F	ENSP00000288368:L411F	L	+	1	0	PREX2	69130756	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.688000	0.61715	2.840000	0.97914	0.655000	0.94253	CTT	PREX2	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.368	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	C	NM_025170		68968202	1	no_errors	ENST00000288368	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68968202	C	T	68968202	3	4	154	1	0	0	0	0	1	0	0	0	12504	913	32	1	1269	1	PREX2	8	68968202	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	860431	68968202	77395820	166	27584										
ESRP1	54845	genome.wustl.edu	37	chr8	95686546	95686546	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acacactcagggccgcccatCaggagatgcctttatccaga	9	14	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:95686546C>T	ENST00000433389.2	+	12	1653	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	ESRP1_ENST00000423620.2_Missense_Mutation_p.S488L|ESRP1_ENST00000454170.2_Missense_Mutation_p.S488L|ESRP1_ENST00000358397.5_Missense_Mutation_p.S488L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	488	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGCCGCCCATCAGGAGATGCC	0.423																																																	0													79	80	80					8																	95686546		1893	4106	5999	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1463C>T	8.37:g.95686546C>T	ENSP00000405738:p.Ser488Leu		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.S488L	ENST00000433389.2	37	c.1463	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175445	0.78564	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.54	4.67	0.58626	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.062992	0.64402	D	0.000002	T	0.32102	0.0818	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.97110	0.997;0.998;0.966;0.99;0.982;1.0	T	0.18745	-1.0327	10	0.87932	D	0	-14.13	14.8095	0.69982	0.0:0.9305:0.0:0.0695	.	488;488;488;488;488;488	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	L	488;488;488;488;347	ENSP00000407349:S488L;ENSP00000405738:S488L;ENSP00000351168:S488L;ENSP00000402766:S488L;ENSP00000429125:S347L	ENSP00000351168:S488L	S	+	2	0	ESRP1	95755722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.475000	0.48197	0.655000	0.94253	TCA	ESRP1	-	smart_RRM_dom		0.423	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	C	NM_017697		95686546	1	no_errors	ENST00000433389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95686546	C	T	95686546	3	4	154	1	0	0	0	0	1	0	0	0	5270	838	29	1	1509	1	ESRP1	8	95686546	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	26718344	95686546	50677476	167	27585										
CSMD3	114788	genome.wustl.edu	37	chr8	113301615	113301615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgaacaatgaggttgtgatcCactccaatggccattcaatt	8	9	1	3	rs138442191		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:113301615C>T	ENST00000297405.5	-	57	9371	c.9127G>A	c.(9127-9129)Gga>Aga	p.G3043R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2874R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2973R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3003R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3043	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTGTGATCCACTCCAATGG	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								C	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	138	133	135		8620,9127,9007	6.2	1	8	dbSNP_134	135	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	125,125,125	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	2874/3539,3043/3708,3003/3668	113301615	1,13003	2203	4299	6502	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9127G>A	8.37:g.113301615C>T	ENSP00000297405:p.Gly3043Arg		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G3043R	ENST00000297405.5	37	c.9127	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472261	0.84533	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.078034	0.50627	D	0.000107	D	0.89469	0.6724	M	0.91872	3.25	0.46499	D	0.999077	D;D;D	0.61080	0.987;0.989;0.964	D;D;P	0.67900	0.923;0.954;0.828	D	0.89101	0.3489	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2874;3043;3003	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	3003;3043;2313;2874;2973	ENSP00000345799:G3003R;ENSP00000297405:G3043R;ENSP00000341558:G2313R;ENSP00000412263:G2874R;ENSP00000343124:G2973R	ENSP00000297405:G3043R	G	-	1	0	CSMD3	113370791	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.724000	0.61972	2.941000	0.99782	0.655000	0.94253	GGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113301615	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113301615	C	T	113301615	3	4	154	1	0	0	0	0	1	0	0	0	3951	603	21	4	2056	4	CSMD3	8	113301615	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	17615069	113301615	33062407	168	27586										
ZHX1	11244	genome.wustl.edu	37	chr8	124267821	124267821	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcttctcctgggtgatatttCagattatgctcagaaagtgc	9	8	4	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:124267821C>G	ENST00000522655.1	-	3	906	c.366G>C	c.(364-366)ctG>ctC	p.L122L	ZHX1_ENST00000395571.3_Silent_p.L122L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.L122L|ZHX1_ENST00000522595.1_5'UTR			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	122					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GGTGATATTTCAGATTATGCT	0.348																																																	0													99	94	96					8																	124267821		2203	4300	6503	SO:0001819	synonymous_variant	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.366G>C	8.37:g.124267821C>G			Q8IWD8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L122	ENST00000522655.1	37	c.366	CCDS6342.1	8																																																																																			ZHX1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	C			124267821	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	silent	SNP	1.000	G	G	124267821	C	G	124267821	2	3	154	1	0	0	0	0	0	0	0	1	17705	813	29	1		1	ZHX1	8	124267821	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	10966206	124267821	22096201	169	27587										
ATAD2	29028	genome.wustl.edu	37	chr8	124382145	124382145	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcttcttctccatcttcttCatcttcatcatcttcatcat	0	15	12	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:124382145C>T	ENST00000287394.5	-	7	954	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	283	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ccatcttcttcatcttcatca	0.363																																																	0													279	215	237					8																	124382145		2203	4300	6503	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.847G>A	8.37:g.124382145C>T	ENSP00000287394:p.Glu283Lys		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E283K	ENST00000287394.5	37	c.847	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427961	0.25726	.	.	ENSG00000156802	ENST00000287394	T	0.09163	3.01	4.27	4.27	0.50696	.	1.535050	0.03153	N	0.168234	T	0.07052	0.0179	N	0.08118	0	0.80722	D	1	B;B	0.16396	0.006;0.017	B;B	0.14023	0.01;0.004	T	0.30179	-0.9987	10	0.15952	T	0.53	-0.3671	8.8631	0.35269	0.0:0.8925:0.0:0.1075	.	113;283	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	283	ENSP00000287394:E283K	ENSP00000287394:E283K	E	-	1	0	ATAD2	124451326	0.857000	0.29778	0.573000	0.28510	0.208000	0.24298	1.859000	0.39418	2.327000	0.79052	0.561000	0.74099	GAA	ATAD2	-	NULL		0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124382145	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	missense	SNP	0.994	T	T	124382145	C	T	124382145	3	4	154	1	0	0	0	0	1	0	0	0	1072	835	29	1	3413	1	ATAD2	8	124382145	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	114324	124382145	21981877	170	27588										
TATDN1	83940	genome.wustl.edu	37	chr8	125551267	125551267	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggaaaacgctcctcttaccGataaacttgaagcgactcat	7	11	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:125551267G>C	ENST00000276692.6	-	1	58	c.21C>G	c.(19-21)atC>atG	p.I7M	NDUFB9_ENST00000276689.3_5'Flank|TATDN1_ENST00000605953.1_Splice_Site_p.I7M|NDUFB9_ENST00000522532.1_5'Flank|NDUFB9_ENST00000518008.1_5'Flank|TATDN1_ENST00000517678.1_De_novo_Start_OutOfFrame|TATDN1_ENST00000519548.1_De_novo_Start_OutOfFrame|NDUFB9_ENST00000517367.1_5'Flank|TATDN1_ENST00000521546.1_5'Flank	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	7					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTCTTACCGATAAACTTGA	0.627																																																	0													51	49	50					8																	125551267		2203	4300	6503	SO:0001630	splice_region_variant	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.22+1C>G	8.37:g.125551267G>C			B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_TatD_family,pirsf_TatD_family	p.I7M	ENST00000276692.6	37	c.21	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179042	0.38511	.	.	ENSG00000147687	ENST00000276692;ENST00000522810;ENST00000519232;ENST00000523152	.	.	.	5.05	0.0636	0.14349	.	1.187830	0.05935	N	0.635876	T	0.71400	0.3335	M	0.87180	2.865	0.80722	D	1	D;B	0.59357	0.985;0.033	P;B	0.58928	0.848;0.33	T	0.63821	-0.6550	9	0.87932	D	0	-20.111	1.6377	0.02746	0.1639:0.3316:0.2879:0.2167	.	7;7	E5RG17;Q6P1N9	.;TATD1_HUMAN	M	7;7;4;7	.	ENSP00000276692:I7M	I	-	3	3	TATDN1	125620448	0.093000	0.21703	0.476000	0.27291	0.152000	0.21847	-0.798000	0.04565	-0.176000	0.10707	-0.291000	0.09656	ATC	TATDN1	-	pfam_TatD_family,pirsf_TatD_family		0.627	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN1	HGNC	protein_coding	OTTHUMT00000381655.1	G	NM_032026	Missense_Mutation	125551267	-1	no_errors	ENST00000276692	ensembl	human	known	70_37	missense	SNP	0.949	C	C	125551267	G	C	125551267	5	2	154	1	0	0	0	0	0	0	1	0	15621	1072	37	1	920	1	TATDN1	8	125551267	Splice_Site	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1169122	125551267	20812755	171	27589										
FAM49B	51571	genome.wustl.edu	37	chr8	130883699	130883699	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcatcttttaatactacattCacctgattataaatttcctt	2	9	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:130883699C>T	ENST00000519824.2	-	4	390	c.117G>A	c.(115-117)gtG>gtA	p.V39V	FAM49B_ENST00000519110.1_Silent_p.V39V|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000519540.1_Silent_p.V39V|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000522746.1_Silent_p.V39V|FAM49B_ENST00000401979.2_Silent_p.V39V|SNORA25_ENST00000363205.1_RNA|FAM49B_ENST00000517654.1_Silent_p.V39V|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Silent_p.V39V	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	39						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			ATACTACATTCACCTGATTAT	0.378																																																	0													92	89	90					8																	130883699		2203	4300	6503	SO:0001819	synonymous_variant	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.117G>A	8.37:g.130883699C>T			Q96AZ5|Q9NW21|Q9NZE7	Silent	SNP	pfam_DUF1394	p.V39	ENST00000519824.2	37	c.117	CCDS6361.1	8																																																																																			FAM49B	-	pfam_DUF1394		0.378	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	C	NM_016623		130883699	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	silent	SNP	1.000	T	T	130883699	C	T	130883699	2	4	154	1	0	0	0	0	0	0	0	1	5594	813	29	1		1	FAM49B	8	130883699	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5332432	130883699	15480323	172	27590										
FAM49B	51571	genome.wustl.edu	37	chr8	130883722	130883722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgattataaatttccttctCagactctgtaggctgggcat	8	9	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:130883722C>T	ENST00000519824.2	-	4	367	c.94G>A	c.(94-96)Gag>Aag	p.E32K	FAM49B_ENST00000519110.1_Missense_Mutation_p.E32K|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000519540.1_Missense_Mutation_p.E32K|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000522746.1_Missense_Mutation_p.E32K|FAM49B_ENST00000401979.2_Missense_Mutation_p.E32K|SNORA25_ENST00000363205.1_RNA|FAM49B_ENST00000517654.1_Missense_Mutation_p.E32K|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.E32K	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	32						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			ATTTCCTTCTCAGACTCTGTA	0.378																																																	0													72	70	71					8																	130883722		2203	4300	6503	SO:0001583	missense	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.94G>A	8.37:g.130883722C>T	ENSP00000429150:p.Glu32Lys		Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	pfam_DUF1394	p.E32K	ENST00000519824.2	37	c.94	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.558341	0.96514	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672;ENST00000519070;ENST00000522361	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82725	-0.0315	10	0.87932	D	0	-13.3457	19.1142	0.93331	0.0:1.0:0.0:0.0	.	32	Q9NUQ9	FA49B_HUMAN	K	32	ENSP00000428117:E32K;ENSP00000429802:E32K;ENSP00000384880:E32K;ENSP00000429078:E32K;ENSP00000429150:E32K;ENSP00000430674:E32K;ENSP00000429499:E32K;ENSP00000430806:E32K;ENSP00000429051:E32K;ENSP00000430694:E32K;ENSP00000429074:E32K;ENSP00000430127:E32K;ENSP00000429659:E32K;ENSP00000427994:E32K;ENSP00000430434:E32K;ENSP00000429860:E32K;ENSP00000430412:E32K	ENSP00000384880:E32K	E	-	1	0	FAM49B	130952904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	GAG	FAM49B	-	pfam_DUF1394		0.378	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	C	NM_016623		130883722	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130883722	C	T	130883722	3	4	154	1	0	0	0	0	1	0	0	0	5594	835	29	1	916	1	FAM49B	8	130883722	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	23	130883722	15480300	173	27591										
FAM135B	51059	genome.wustl.edu	37	chr8	139164862	139164862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctcttgatctattccctttCctagagtacttaattcatgg	5	11	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:139164862C>T	ENST00000395297.1	-	13	2026	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	619										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TATTCCCTTTCCTAGAGTACT	0.478										HNSCC(54;0.14)																																							0													132	129	130					8																	139164862		1888	4126	6014	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1856G>A	8.37:g.139164862C>T	ENSP00000378710:p.Gly619Glu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.G619E	ENST00000395297.1	37	c.1856	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	8.902	0.956548	0.18507	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.35	4.42	0.53409	.	0.632905	0.16098	N	0.229727	T	0.13457	0.0326	L	0.57536	1.79	0.09310	N	1	P;P;B	0.50528	0.936;0.834;0.142	P;P;B	0.46320	0.512;0.512;0.021	T	0.12344	-1.0551	10	0.02654	T	1	-19.7817	6.852	0.24020	0.0:0.6953:0.1529:0.1518	.	619;619;619	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	E	619	ENSP00000378710:G619E	ENSP00000276737:G619E	G	-	2	0	FAM135B	139234044	0.002000	0.14202	0.057000	0.19452	0.009000	0.06853	0.342000	0.19926	2.678000	0.91216	0.655000	0.94253	GGA	FAM135B	-	NULL		0.478	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	C	NM_015912		139164862	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	0.001	T	T	139164862	C	T	139164862	3	4	154	1	0	0	0	0	1	0	0	0	5464	855	30	1	2396	1	FAM135B	8	139164862	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	8281140	139164862	7199160	174	27592										
TRAPPC9	83696	genome.wustl.edu	37	chr8	141468469	141468469	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcccactgtggatccctgcgGcaccccctgtgaccctcacg	10	19	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:141468469G>A	ENST00000438773.2	-	0	0				TRAPPC9_ENST00000389328.4_Silent_p.C65C|TRAPPC9_ENST00000389327.3_5'Flank	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GATCCCTGCGGCACCCCCTGT	0.701																																																	0													21	19	20					8																	141468469		2196	4293	6489	SO:0001631	upstream_gene_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187		8.37:g.141468469G>A	Exception_encountered		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	pfam_TRAPP_II_complex_Trs120	p.C65	ENST00000438773.2	37	c.195	CCDS55278.1	8																																																																																			TRAPPC9	-	NULL		0.701	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	G	NM_031466		141468469	-1	no_errors	ENST00000389328	ensembl	human	known	70_37	silent	SNP	0.007	A	A	141468469	G	A	141468469	1	1	154	0	1	0	0	0	0	0	0	0	16496	1195	42	4		4	TRAPPC9	8	141468469	5'Flank	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2303607	141468469	4895553	175	27593										
C8orf73	642475	genome.wustl.edu	37	chr8	144654698	144654698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggctctgcctcagagggggCggtgagtgcctgggtctgtg	19	9	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:144654698C>T	ENST00000398882.3	-	1	443	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	63																	TCAGAGGGGGCGGTGAGTGCC	0.706																																																	0													16	20	19					8																	144654698		1981	4147	6128	SO:0001583	missense	642475			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.187G>A	8.37:g.144654698C>T	ENSP00000381857:p.Ala63Thr		A8MWB1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A63T	ENST00000398882.3	37	c.187	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	c	9.824	1.186637	0.21870	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.24151	4.17;1.87	2.79	-5.57	0.02521	.	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37572	-0.9700	9	0.08599	T	0.76	.	5.0843	0.14673	0.0:0.3796:0.2885:0.3319	.	63;63	E9PPP7;A6NGR9	.;CH073_HUMAN	T	63	ENSP00000381857:A63T;ENSP00000436959:A63T	ENSP00000381857:A63T	A	-	1	0	C8orf73	144725841	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.165000	0.03132	-1.150000	0.02840	-1.593000	0.00842	GCC	C8orf73	-	NULL		0.706	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf73	HGNC	protein_coding	OTTHUMT00000382330.3	C	NM_001100878		144654698	-1	no_errors	ENST00000398882	ensembl	human	known	70_37	missense	SNP	0.000	T	T	144654698	C	T	144654698	3	4	154	1	0	0	0	0	1	0	0	0	2440	768	27	2	2028	2	C8orf73	8	144654698	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3186229	144654698	1709324	176	27594										
SHARPIN	81858	genome.wustl.edu	37	chr8	145153884	145153884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgatgaaggtgcaggaaggaCaggaccagctgggctggggg	20	6	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr8:145153884C>T	ENST00000398712.2	-	8	1497	c.1061G>A	c.(1060-1062)tGt>tAt	p.C354Y	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	354					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGGAAGGACAGGACCAGCT	0.632																																																	0													51	57	55					8																	145153884		2066	4208	6274	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.1061G>A	8.37:g.145153884C>T	ENSP00000381698:p.Cys354Tyr		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.C354Y	ENST00000398712.2	37	c.1061	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421482	0.42918	.	.	ENSG00000179526	ENST00000532536;ENST00000398712	D;D	0.99797	-6.79;-6.79	4.62	4.62	0.57501	Zinc finger, RanBP2-type (4);	.	.	.	.	D	0.99753	0.9901	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97089	0.9789	9	0.87932	D	0	.	12.8515	0.57860	0.0:1.0:0.0:0.0	.	354	Q9H0F6	SHRPN_HUMAN	Y	62;354	ENSP00000432355:C62Y;ENSP00000381698:C354Y	ENSP00000381698:C354Y	C	-	2	0	SHARPIN	145225872	1.000000	0.71417	0.809000	0.32408	0.123000	0.20343	6.100000	0.71473	2.420000	0.82092	0.550000	0.68814	TGT	SHARPIN	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	C	NM_030974		145153884	-1	no_errors	ENST00000398712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145153884	C	T	145153884	3	4	154	1	0	0	0	0	1	0	0	0	14297	478	17	4	106	4	SHARPIN	8	145153884	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	499186	145153884	1210138	177	27595										
KIAA0020	9933	genome.wustl.edu	37	chr9	2823795	2823795	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acttacattagccaccttttCaacataagtcttcattgttt	3	10	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:2823795C>G	ENST00000397885.2	-	12	1380	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	392	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GCCACCTTTTCAACATAAGTC	0.264																																																	0													42	38	39					9																	2823795		2181	4247	6428	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1174G>C	9.37:g.2823795C>G	ENSP00000380982:p.Glu392Gln		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E392Q	ENST00000397885.2	37	c.1174	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	9.115	1.007625	0.19199	.	.	ENSG00000080608	ENST00000397885	T	0.15603	2.41	5.68	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.208574	0.49305	N	0.000148	T	0.14787	0.0357	L	0.35341	1.055	0.39810	D	0.972686	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.06110	-1.0845	10	0.16420	T	0.52	-30.6892	16.8131	0.85726	0.0:0.8714:0.1286:0.0	.	252;392	B2RDG4;Q15397	.;K0020_HUMAN	Q	392	ENSP00000380982:E392Q	ENSP00000380982:E392Q	E	-	1	0	KIAA0020	2813795	1.000000	0.71417	0.929000	0.37066	0.471000	0.32888	2.894000	0.48640	1.396000	0.46663	0.650000	0.86243	GAA	KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.264	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	C	NM_014878		2823795	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	missense	SNP	0.995	G	G	2823795	C	G	2823795	3	3	154	1	0	0	0	0	1	0	0	0	8172	835	29	1	800	1	KIAA0020	9	2823795	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		2823795	138389636	178	27596										
PTPRD	5789	genome.wustl.edu	37	chr9	8454584	8454584	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gttctctattcctcacctgtCgggtttactgctccatttta	6	12	2	0	rs370467898		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:8454584C>T	ENST00000381196.4	-	31	4419				PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Missense_Mutation_p.D881N|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Missense_Mutation_p.D885N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D884N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTCACCTGTCGGGTTTACTG	0.403										TSP Lung(15;0.13)																																							0								C	ASN/ASP,,,ASN/ASP,ASN/ASP,	0,3646		0,0,1823	86	80	82		2641,,,2650,2653,	5.4	1	9		82	1,8167		0,1,4083	no	missense,intron,intron,missense,missense,intron	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	23,,,23,23,	0,1,5906	TT,TC,CC		0.0122,0.0,0.0085	,,,,,	881/1503,,,884/1506,885/1507,	8454584	1,11813	1823	4084	5907	SO:0001627	intron_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3876-4747G>A	9.37:g.8454584C>T			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.D885N	ENST00000381196.4	37	c.2653	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332383	0.41297	0.0	1.22E-4	ENSG00000153707	ENST00000355233;ENST00000397611;ENST00000486161	T;T;T	0.50548	0.85;0.74;0.86	5.37	5.37	0.77165	.	.	.	.	.	T	0.58538	0.2129	L	0.34521	1.04	0.80722	D	1	D;D;B	0.76494	0.999;0.999;0.147	D;D;B	0.68621	0.959;0.959;0.04	T	0.54241	-0.8323	8	.	.	.	.	19.0886	0.93217	0.0:1.0:0.0:0.0	.	884;885;881	Q3KPJ0;Q3KPJ1;F5GWT7	.;.;.	N	885;881;884	ENSP00000347373:D885N;ENSP00000380735:D881N;ENSP00000417093:D884N	.	D	-	1	0	PTPRD	8444584	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.435000	0.80391	2.517000	0.84864	0.591000	0.81541	GAC	PTPRD	-	NULL		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8454584	-1	no_errors	ENST00000355233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8454584	C	T	8454584	1	4	154	0	1	0	0	0	0	0	0	0	12829	884	31	1		1	PTPRD	9	8454584	Intron	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5630789	8454584	132758847	179	27597										
TEK	7010	genome.wustl.edu	37	chr9	27203064	27203064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttttgcagagaacaacatagGgtcaagcaacccagcctttt	8	10	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:27203064G>A	ENST00000380036.4	+	13	2598	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	TEK_ENST00000519097.1_Missense_Mutation_p.G572E|TEK_ENST00000406359.4_Missense_Mutation_p.G676E	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	719	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AACAACATAGGGTCAAGCAAC	0.463																																																	0													93	86	88					9																	27203064		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2156G>A	9.37:g.27203064G>A	ENSP00000369375:p.Gly719Glu		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G719E	ENST00000380036.4	37	c.2156	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431720	0.83776	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.47528	0.84;0.84;0.84	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000086	T	0.60560	0.2278	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.991;0.996;1.0;0.994	T	0.63373	-0.6652	10	0.87932	D	0	.	19.7255	0.96162	0.0:0.0:1.0:0.0	.	572;752;676;719	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	E	572;719;676	ENSP00000430686:G572E;ENSP00000369375:G719E;ENSP00000383977:G676E	ENSP00000369375:G719E	G	+	2	0	TEK	27193064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.732000	0.93576	0.637000	0.83480	GGG	TEK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	G			27203064	1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27203064	G	A	27203064	3	1	154	1	0	0	0	0	1	0	0	0	15781	1232	43	4	2206	4	TEK	9	27203064	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	18748480	27203064	114010367	180	27598										
ACO1	48	genome.wustl.edu	37	chr9	32418333	32418333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttgtcaatcccagtggggttCccaggcttttcacaacatgc	9	12	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:32418333C>T	ENST00000309951.6	+	6	620	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ACO1_ENST00000379923.1_Missense_Mutation_p.S161F|ACO1_ENST00000541043.1_Missense_Mutation_p.S62F	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	161					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CAGTGGGGTTCCCAGGCTTTT	0.483																																																	0													60	63	62					9																	32418333		2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.482C>T	9.37:g.32418333C>T	ENSP00000309477:p.Ser161Phe		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.S161F	ENST00000309951.6	37	c.482	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990646	0.93106	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.17528	2.27;2.27;2.27	6.08	6.08	0.98989	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	H	0.96175	3.78	0.80722	D	1	D	0.59767	0.986	D	0.67548	0.952	T	0.70055	-0.4977	10	0.87932	D	0	-11.5189	19.4349	0.94788	0.0:1.0:0.0:0.0	.	161	P21399	ACOC_HUMAN	F	197;161;161;161;62	ENSP00000309477:S161F;ENSP00000369255:S161F;ENSP00000438733:S62F	ENSP00000309477:S161F	S	+	2	0	ACO1	32408333	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.811000	0.86092	2.894000	0.99253	0.655000	0.94253	TCC	ACO1	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	C	NM_002197		32418333	1	no_errors	ENST00000309951	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32418333	C	T	32418333	3	4	154	1	0	0	0	0	1	0	0	0	146	855	30	1	500	1	ACO1	9	32418333	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5215269	32418333	108795098	181	27599										
TAF1L	138474	genome.wustl.edu	37	chr9	32635100	32635100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttcattggtcccgggggtgGaggtggaggaggcatcaact	17	8	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:32635100G>A	ENST00000242310.4	-	1	567	c.478C>T	c.(478-480)Cca>Tca	p.P160S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	160	Pro-rich.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGGGGGTGGAGGTGGAGGA	0.488																																																	0													234	191	206					9																	32635100		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.478C>T	9.37:g.32635100G>A	ENSP00000418379:p.Pro160Ser		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P160S	ENST00000242310.4	37	c.478	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775425	0.49786	.	.	ENSG00000122728	ENST00000242310	T	0.07444	3.19	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	L	0.50919	1.6	0.44000	D	0.996702	D	0.71674	0.998	D	0.67725	0.953	T	0.28744	-1.0034	10	0.10377	T	0.69	.	7.5055	0.27542	0.0:0.0:1.0:0.0	.	160	Q8IZX4	TAF1L_HUMAN	S	160	ENSP00000418379:P160S	ENSP00000418379:P160S	P	-	1	0	TAF1L	32625100	1.000000	0.71417	0.989000	0.46669	0.323000	0.28346	5.835000	0.69368	0.514000	0.28300	0.205000	0.17691	CCA	TAF1L	-	pirsf_TAF1_animal		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32635100	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32635100	G	A	32635100	3	1	154	1	0	0	0	0	1	0	0	0	15553	1174	41	1	5006	1	TAF1L	9	32635100	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	216767	32635100	108578331	182	27600										
DNAJA1	3301	genome.wustl.edu	37	chr9	33038806	33038806	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagtagaactggtggactttGatccaaatcaggaaagacgg	12	6	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:33038806G>A	ENST00000330899.4	+	9	1282	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	DNAJA1_ENST00000544625.1_Missense_Mutation_p.D210N	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	367					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GGTGGACTTTGATCCAAATCA	0.473																																																	0													106	96	99					9																	33038806		2203	4300	6503	SO:0001583	missense	3301			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.1099G>A	9.37:g.33038806G>A	ENSP00000369127:p.Asp367Asn		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.D367N	ENST00000330899.4	37	c.1099	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334767	0.24253	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.61627	0.09;1.44	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.35793	1.09	0.80722	D	1	B	0.17852	0.024	B	0.19946	0.027	T	0.37549	-0.9701	10	0.13470	T	0.59	-26.3545	15.8625	0.79035	0.0:0.0:1.0:0.0	.	367	P31689	DNJA1_HUMAN	N	367;210;210	ENSP00000369127:D367N;ENSP00000439010:D210N	ENSP00000369127:D367N	D	+	1	0	DNAJA1	33028806	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	8.694000	0.91293	2.422000	0.82143	0.557000	0.71058	GAT	DNAJA1	-	NULL		0.473	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	G			33038806	1	no_errors	ENST00000330899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33038806	G	A	33038806	3	1	154	1	0	0	0	0	1	0	0	0	4621	1290	45	1	1129	1	DNAJA1	9	33038806	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	403706	33038806	108174625	183	27601										
FAM166B	730112	genome.wustl.edu	37	chr9	35562970	35562970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcccttggcctcctttggtaGctcttcactcccttgctttt	6	15	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:35562970G>T	ENST00000399742.2	-	3	464	c.394C>A	c.(394-396)Cta>Ata	p.L132I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	132										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCCTTTGGTAGCTCTTCACTC	0.572																																																	0													79	76	77					9																	35562970		2017	4172	6189	SO:0001583	missense	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.394C>A	9.37:g.35562970G>T	ENSP00000382646:p.Leu132Ile		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.L132I	ENST00000399742.2	37	c.394	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753995	0.49362	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.39	1.05	0.20165	.	6.977050	0.01461	U	0.015894	T	0.52821	0.1758	M	0.68317	2.08	0.09310	N	1	P;D;P;D	0.59767	0.908;0.976;0.78;0.986	B;P;B;P	0.55713	0.368;0.609;0.197;0.782	T	0.27673	-1.0067	9	0.25106	T	0.35	0.3231	4.4724	0.11719	0.1855:0.0:0.5678:0.2467	.	132;132;132;132	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	132	.	ENSP00000382646:L132I	L	-	1	2	FAM166B	35552970	0.001000	0.12720	0.005000	0.12908	0.065000	0.16274	0.523000	0.22925	0.642000	0.30620	0.563000	0.77884	CTA	FAM166B	-	NULL		0.572	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1	G	NM_001099951		35562970	-1	no_errors	ENST00000447837	ensembl	human	known	70_37	missense	SNP	0.006	T	T	35562970	G	T	35562970	3	4	154	1	0	0	0	0	1	0	0	0	5497	962	34	4	268	4	FAM166B	9	35562970	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2524164	35562970	105650461	184	27602										
ZBTB5	9925	genome.wustl.edu	37	chr9	37441722	37441722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgttgccagcactgttatcaGactggctgggcacctgggca	13	11	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:37441722G>A	ENST00000307750.4	-	2	1015	c.827C>T	c.(826-828)tCt>tTt	p.S276F		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACTGTTATCAGACTGGCTGGG	0.473																																																	0													71	76	74					9																	37441722		2203	4300	6503	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.827C>T	9.37:g.37441722G>A	ENSP00000307604:p.Ser276Phe			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S276F	ENST00000307750.4	37	c.827	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128939	0.56721	.	.	ENSG00000168795	ENST00000307750	T	0.14266	2.52	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	L	0.27053	0.805	0.80722	D	1	D	0.58268	0.982	P	0.55667	0.781	T	0.00405	-1.1760	10	0.66056	D	0.02	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	276	O15062	ZBTB5_HUMAN	F	276	ENSP00000307604:S276F	ENSP00000307604:S276F	S	-	2	0	ZBTB5	37431722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.204000	0.77872	2.884000	0.98904	0.655000	0.94253	TCT	ZBTB5	-	NULL		0.473	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	G	NM_014872		37441722	-1	no_errors	ENST00000307750	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37441722	G	A	37441722	3	1	154	1	0	0	0	0	1	0	0	0	17581	942	33	1	1210	1	ZBTB5	9	37441722	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1878752	37441722	103771709	185	27603										
FAM189A2	9413	genome.wustl.edu	37	chr9	71986460	71986460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggtttgtgtcctcttaaatCtagctggatttatcctaggc	9	8	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:71986460C>G	ENST00000257515.8	+	3	478	c.58C>G	c.(58-60)Cta>Gta	p.L20V	FAM189A2_ENST00000455972.1_Missense_Mutation_p.L20V|FAM189A2_ENST00000303068.7_Intron	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	20						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTCTTAAATCTAGCTGGATT	0.463																																																	0													231	206	214					9																	71986460		2203	4300	6503	SO:0001583	missense	9413			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.58C>G	9.37:g.71986460C>G	ENSP00000257515:p.Leu20Val		Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	pfam_CD20-like	p.L20V	ENST00000257515.8	37	c.58	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699617	0.30142	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.03330	3.97;3.97	5.72	2.87	0.33458	.	0.000000	0.64402	D	0.000008	T	0.13457	0.0326	L	0.61218	1.895	0.53688	D	0.999978	D	0.76494	0.999	D	0.87578	0.998	T	0.00115	-1.2039	10	0.87932	D	0	-16.665	10.4491	0.44511	0.0:0.8305:0.0:0.1695	.	20	Q15884	F1892_HUMAN	V	20;20;19	ENSP00000395675:L20V;ENSP00000257515:L20V	ENSP00000257515:L20V	L	+	1	2	FAM189A2	71176280	1.000000	0.71417	0.307000	0.25127	0.236000	0.25371	1.053000	0.30442	0.325000	0.23359	0.655000	0.94253	CTA	FAM189A2	-	pfam_CD20-like		0.463	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	C	NM_004816		71986460	1	no_errors	ENST00000257515	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71986460	C	G	71986460	3	3	154	1	0	0	0	0	1	0	0	0	5531	912	32	1	64	1	FAM189A2	9	71986460	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	34544738	71986460	69226971	186	27604										
AGTPBP1	23287	genome.wustl.edu	37	chr9	88190252	88190252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agttactttgcagcttgattCaattaaatcattttcaaagt	5	6	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:88190252C>G	ENST00000357081.3	-	25	3625	c.3481G>C	c.(3481-3483)Gaa>Caa	p.E1161Q	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1121Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1173Q|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1161					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CAGCTTGATTCAATTAAATCA	0.313																																																	0													75	78	77					9																	88190252		2203	4300	6503	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3481G>C	9.37:g.88190252C>G	ENSP00000349592:p.Glu1161Gln		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.E1173Q	ENST00000357081.3	37	c.3517		9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658576	0.88154	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.22134	2.0;2.0;1.97	6.07	6.07	0.98685	.	0.201110	0.52532	D	0.000079	T	0.29684	0.0741	L	0.27053	0.805	0.80722	D	1	P;D;D	0.60575	0.931;0.98;0.988	P;P;P	0.54706	0.464;0.677;0.759	T	0.00379	-1.1777	10	0.33141	T	0.24	-30.1459	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1173;1161;1121	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	Q	1161;1121;1173	ENSP00000349592:E1161Q;ENSP00000365251:E1121Q;ENSP00000365277:E1173Q	ENSP00000349592:E1161Q	E	-	1	0	AGTPBP1	87380072	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.015000	0.76387	2.885000	0.99019	0.655000	0.94253	GAA	AGTPBP1	-	NULL		0.313	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	C	NM_015239		88190252	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88190252	C	G	88190252	3	3	154	1	0	0	0	0	1	0	0	0	400	835	29	1	207	1	AGTPBP1	9	88190252	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	16203792	88190252	53023179	187	27605										
ZNF169	169841	genome.wustl.edu	37	chr9	97062636	97062636	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agaagccatacctgtgtcctGagtgtgggcgtcggtttagc	14	9	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:97062636G>C	ENST00000395395.2	+	5	886	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CCTGTGTCCTGAGTGTGGGCG	0.572																																																	0													69	73	72					9																	97062636		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.796G>C	9.37:g.97062636G>C	ENSP00000378792:p.Glu266Gln		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E266Q	ENST00000395395.2	37	c.796	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	8.168	0.791054	0.16258	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.37411	1.2	2.73	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37376	0.1001	N	0.11673	0.155	0.22926	N	0.998556	D	0.89917	1.0	D	0.77004	0.989	T	0.26052	-1.0114	9	0.30854	T	0.27	.	11.6516	0.51292	0.0:0.0:1.0:0.0	.	266	Q14929	ZN169_HUMAN	Q	266;75	ENSP00000378792:E266Q	ENSP00000340711:E75Q	E	+	1	0	ZNF169	96102457	0.021000	0.18746	0.047000	0.18901	0.008000	0.06430	0.465000	0.22004	1.851000	0.53745	0.603000	0.83216	GAG	ZNF169	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.572	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	G	NM_194320		97062636	1	no_errors	ENST00000395395	ensembl	human	known	70_37	missense	SNP	0.318	C	C	97062636	G	C	97062636	3	2	154	1	0	0	0	0	1	0	0	0	17772	1291	45	1	810	1	ZNF169	9	97062636	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	8872384	97062636	44150795	188	27606										
COL15A1	1306	genome.wustl.edu	37	chr9	101765855	101765855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtccacggagaacccagagGaaggggtcactccagtaagt	13	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:101765855G>A	ENST00000375001.3	+	8	1609	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	396	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAACCCAGAGGAAGGGGTCAC	0.617																																																	0													53	56	55					9																	101765855		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1186G>A	9.37:g.101765855G>A	ENSP00000364140:p.Glu396Lys		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E396K	ENST00000375001.3	37	c.1186	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298720	0.23650	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.91521	-2.86	3.77	2.86	0.33363	.	1.486600	0.04897	N	0.450657	D	0.83848	0.5343	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67345	-0.5694	10	0.07482	T	0.82	-15.6714	7.6202	0.28181	0.1184:0.0:0.8816:0.0	.	396	P39059	COFA1_HUMAN	K	396;366	ENSP00000364140:E396K	ENSP00000364140:E396K	E	+	1	0	COL15A1	100805676	0.506000	0.26139	0.010000	0.14722	0.383000	0.30230	1.570000	0.36439	1.131000	0.42111	0.561000	0.74099	GAA	COL15A1	-	NULL		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855		101765855	1	no_errors	ENST00000375001	ensembl	human	known	70_37	missense	SNP	0.012	A	A	101765855	G	A	101765855	3	1	154	1	0	0	0	0	1	0	0	0	3677	1175	41	1	1216	1	COL15A1	9	101765855	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4703219	101765855	39447576	189	27607										
BAAT	570	genome.wustl.edu	37	chr9	104124827	104124827	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tctcctccccagtgtaacctCaaatcgtgggtcgttgaggc	10	13	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:104124827C>G	ENST00000395051.3	-	3	1210	c.1140G>C	c.(1138-1140)ttG>ttC	p.L380F	BAAT_ENST00000259407.2_Missense_Mutation_p.L380F			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	380					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGTGTAACCTCAAATCGTGGG	0.537																																																	0													167	146	153					9																	104124827		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1140G>C	9.37:g.104124827C>G	ENSP00000378491:p.Leu380Phe		Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.L380F	ENST00000395051.3	37	c.1140	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658485	0.29425	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.29142	1.58;1.58	4.86	-9.71	0.00518	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	3.343970	0.01211	N	0.007832	T	0.15869	0.0382	L	0.28115	0.83	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.10730	-1.0617	10	0.39692	T	0.17	6.0613	1.6147	0.02701	0.4166:0.2003:0.2258:0.1574	.	380	Q14032	BAAT_HUMAN	F	380	ENSP00000259407:L380F;ENSP00000378491:L380F	ENSP00000259407:L380F	L	-	3	2	BAAT	103164648	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.682000	0.00836	-2.094000	0.00854	-0.165000	0.13383	TTG	BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain		0.537	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	C			104124827	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	missense	SNP	0.000	G	G	104124827	C	G	104124827	3	3	154	1	0	0	0	0	1	0	0	0	1281	825	29	1	120	1	BAAT	9	104124827	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2358972	104124827	37088604	190	27608										
OR13C2	392376	genome.wustl.edu	37	chr9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttcagaaaaaattccaccaGaatggtgtggttttcccatt	7	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											47	52	50					9																	107367884		2195	4299	6494	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.25C>G	9.37:g.107367884G>C	ENSP00000438815:p.Leu9Val		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L9V	ENST00000542196.1	37	c.25	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111042	0.00353	.	.	ENSG00000257019	ENST00000542196	T	0.00299	8.22	3.39	-1.19	0.09585	.	0.313759	0.16689	U	0.203629	T	0.00039	0.0001	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	0.7009	0.00908	0.3362:0.1654:0.331:0.1674	.	9	Q8NGS9	O13C2_HUMAN	V	9	ENSP00000438815:L9V	ENSP00000438815:L9V	L	-	1	2	OR13C2	106407705	0.000000	0.05858	0.093000	0.20910	0.892000	0.51952	-2.895000	0.00707	-0.123000	0.11745	-0.379000	0.06801	CTG	OR13C2	-	NULL		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107367884	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	missense	SNP	0.000	C	C	107367884	G	C	107367884	3	2	154	1	0	0	0	0	1	0	0	0	10958	933	33	1	934	1	OR13C2	9	107367884	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3243057	107367884	33845547	191	27609										
TNC	3371	genome.wustl.edu	37	chr9	117808902	117808902	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttcatcagctgtccaggacaGacggaaaccgtctggggtgg	14	10	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:117808902G>C	ENST00000350763.4	-	17	5323	c.4912C>G	c.(4912-4914)Ctg>Gtg	p.L1638V	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.L1183V|TNC_ENST00000340094.3_Missense_Mutation_p.L1274V|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.L1092V|TNC_ENST00000542877.1_Missense_Mutation_p.L1275V|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000341037.4_Missense_Mutation_p.L1456V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1638	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCCAGGACAGACGGAAACCG	0.493																																																	0													57	63	61					9																	117808902		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4912C>G	9.37:g.117808902G>C	ENSP00000265131:p.Leu1638Val		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L1638V	ENST00000350763.4	37	c.4912	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.438466|2.438466	0.43326|0.43326	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877|ENST00000544972	T;T;T;T;T;T|.	0.04551|.	3.6;3.6;3.6;3.6;3.6;3.6|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.70500|0.70500	0.3231|0.3231	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	P|.	0.51537|.	0.946|.	P|.	0.51833|.	0.681|.	T|T	0.64419|0.64419	-0.6412|-0.6412	10|5	0.29301|.	T|.	0.29|.	.|.	20.352|20.352	0.98815|0.98815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1638|.	P24821|.	TENA_HUMAN|.	V|C	1274;1183;1092;1638;1456;1275|200	ENSP00000344400:L1274V;ENSP00000438152:L1183V;ENSP00000344555:L1092V;ENSP00000265131:L1638V;ENSP00000339553:L1456V;ENSP00000442242:L1275V|.	ENSP00000344400:L1274V|.	L|S	-|-	1|2	2|0	TNC|TNC	116848723|116848723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.259000|6.259000	0.72494|0.72494	2.803000|2.803000	0.96430|0.96430	0.655000|0.655000	0.94253|0.94253	CTG|TCT	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	G	NM_002160		117808902	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117808902	G	C	117808902	3	2	154	1	0	0	0	0	1	0	0	0	16300	933	33	1	1741	1	TNC	9	117808902	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	10441018	117808902	23404529	192	27610										
TTC16	158248	genome.wustl.edu	37	chr9	130479949	130479949	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gctgaggcctacctccagctCtgtgacttctcctcggccgc	10	17	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:130479949C>G	ENST00000373289.3	+	4	404	c.324C>G	c.(322-324)ctC>ctG	p.L108L	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000543175.1_5'Flank|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000423807.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	108										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						ACCTCCAGCTCTGTGACTTCT	0.607																																																	0													75	70	71					9																	130479949		2203	4300	6503	SO:0001819	synonymous_variant	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.324C>G	9.37:g.130479949C>G			B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L108	ENST00000373289.3	37	c.324	CCDS6875.1	9																																																																																			TTC16	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1	C	NM_144965		130479949	1	no_errors	ENST00000373289	ensembl	human	known	70_37	silent	SNP	0.996	G	G	130479949	C	G	130479949	2	3	154	1	0	0	0	0	0	0	0	1	16714	900	32	1		1	TTC16	9	130479949	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	12671047	130479949	10733482	193	27611										
METTL11A	28989	genome.wustl.edu	37	chr9	132395141	132395141	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagtttctgcagaggtttttGagggtaggcaggtctggcgt	16	5	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:132395141G>C	ENST00000372486.1	+	2	508	c.159G>C	c.(157-159)ttG>ttC	p.L53F	NTMT1_ENST00000372483.4_Missense_Mutation_p.L53F|NTMT1_ENST00000459968.2_Missense_Mutation_p.L53F|NTMT1_ENST00000372480.1_Missense_Mutation_p.L53F|NTMT1_ENST00000372481.3_Missense_Mutation_p.L53F|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_Intron			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	53					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGAGGTTTTTGAGGGTAGGCA	0.577																																																	0													115	111	112					9																	132395141		2203	4300	6503	SO:0001583	missense	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.159G>C	9.37:g.132395141G>C	ENSP00000361564:p.Leu53Phe		A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik	p.L53F	ENST00000372486.1	37	c.159	CCDS35160.1	9	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282320	0.59867	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.15	4.24	0.50183	.	0.000000	0.64402	D	0.000002	T	0.26484	0.0647	N	0.21617	0.685	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.04029	-1.0983	10	0.08381	T	0.77	-10.5965	11.5248	0.50573	0.0897:0.0:0.9103:0.0	.	53;53	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	F	53	ENSP00000361564:L53F;ENSP00000361561:L53F;ENSP00000361559:L53F;ENSP00000361558:L53F	ENSP00000361558:L53F	L	+	3	2	METTL11A	131434962	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.572000	0.36461	1.150000	0.42419	0.561000	0.74099	TTG	NTMT1	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik		0.577	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	G	NM_014064		132395141	1	no_errors	ENST00000372480	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132395141	G	C	132395141	3	2	154	1	0	0	0	0	1	0	0	0	9518	1281	45	1	161	1	METTL11A	9	132395141	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1915192	132395141	8818290	194	27612										
ADAMTSL2	9719	genome.wustl.edu	37	chr9	136406068	136406068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtggcatctgccagggggaCggtagcagctgcacccacgt	15	12	1	0	rs143046395		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:136406068C>T	ENST00000354484.4	+	7	1184	c.627C>T	c.(625-627)gaC>gaT	p.D209D	ADAMTSL2_ENST00000393060.1_Silent_p.D209D|ADAMTSL2_ENST00000393061.3_Silent_p.D318D	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	209					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCCAGGGGGACGGTAGCAGCT	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		18798	0		0	False		,,,				2504	0																0								C	,	6,4400	9.9+/-24.2	0,6,2197	54	46	49		627,627	-0.3	1	9	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADAMTSL2	NM_001145320.1,NM_014694.3	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	209/952,209/952	136406068	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.627C>T	9.37:g.136406068C>T			B1B0D5|O60345	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.D318	ENST00000354484.4	37	c.954	CCDS6976.1	9																																																																																			ADAMTSL2	-	prints_Peptidase_M12B_ADAM-TS		0.637	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL2	HGNC	protein_coding	OTTHUMT00000254619.1	C	NM_014694		136406068	1	no_errors	ENST00000393061	ensembl	human	known	70_37	silent	SNP	1.000	T	T	136406068	C	T	136406068	2	4	154	1	0	0	0	0	0	0	0	1	275	535	19	2		2	ADAMTSL2	9	136406068	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4010927	136406068	4807363	195	27613										
ABCA2	20	genome.wustl.edu	37	chr9	139912145	139912145	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggcccatggtcttcatcacCtgcgggtgggccaggggctt	15	12	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:139912145C>T	ENST00000371605.3	-	16	2356		c.e16-1		ABCA2_ENST00000341511.6_Splice_Site|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Splice_Site			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2						ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCTTCATCACCTGCGGGTGGG	0.701																																																	0													39	46	43					9																	139912145		1984	4141	6125	SO:0001630	splice_region_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2209-1G>A	9.37:g.139912145C>T			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Splice_Site	SNP	-	e17-1	ENST00000371605.3	37	c.2212-1		9	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402130	0.62288	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6647	0.77221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA2	139031966	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	6.860000	0.75473	1.996000	0.58369	0.313000	0.20887	.	ABCA2	-	-		0.701	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606	Intron	139912145	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	139912145	C	T	139912145	5	4	154	1	0	0	0	0	0	0	1	0	32	695	24	4	5231	4	ABCA2	9	139912145	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3506077	139912145	1301286	196	27614										
MAN1B1	11253	genome.wustl.edu	37	chr9	140002950	140002950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagacgctcaagtatctgttCttgctcttctccgatgaccc	8	13	5	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr9:140002950C>G	ENST00000371589.4	+	13	2080	c.2007C>G	c.(2005-2007)ttC>ttG	p.F669L	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.F372L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	669					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AGTATCTGTTCTTGCTCTTCT	0.552																																																	0													222	219	220					9																	140002950		2203	4300	6503	SO:0001583	missense	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.2007C>G	9.37:g.140002950C>G	ENSP00000360645:p.Phe669Leu		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.F669L	ENST00000371589.4	37	c.2007	CCDS7029.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.400607|2.400607	0.42613|0.42613	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589;ENST00000474902|ENST00000550113	D;D|.	0.83335|.	-1.71;-1.71|.	5.44|5.44	-0.457|-0.457	0.12186|0.12186	.|.	.|.	.|.	.|.	.|.	T|T	0.57315|0.57315	0.2045|0.2045	L|L	0.52905|0.52905	1.665|1.665	0.38503|0.38503	D|D	0.94827|0.94827	D;P|.	0.56287|.	0.975;0.769|.	P;B|.	0.56823|.	0.807;0.336|.	T|T	0.55805|0.55805	-0.8083|-0.8083	8|5	.|.	.|.	.|.	.|.	10.3239|10.3239	0.43781|0.43781	0.0:0.4788:0.0:0.5212|0.0:0.4788:0.0:0.5212	.|.	342;669|.	B3KXZ1;Q9UKM7|.	.;MA1B1_HUMAN|.	L|V	669;372|94	ENSP00000360645:F669L;ENSP00000447256:F372L|.	.|.	F|L	+|+	3|1	2|0	MAN1B1|MAN1B1	139122771|139122771	0.972000|0.972000	0.33761|0.33761	0.972000|0.972000	0.41901|0.41901	0.425000|0.425000	0.31504|0.31504	0.309000|0.309000	0.19332|0.19332	-0.001000|-0.001000	0.14495|0.14495	0.561000|0.561000	0.74099|0.74099	TTC|CTT	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.552	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	C	NM_016219		140002950	1	no_errors	ENST00000371589	ensembl	human	known	70_37	missense	SNP	0.981	G	G	140002950	C	G	140002950	3	3	154	1	0	0	0	0	1	0	0	0	9235	912	32	1	2057	1	MAN1B1	9	140002950	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	90805	140002950	1210481	197	27615										
ATP5C1	509	genome.wustl.edu	37	chr10	7842008	7842008	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggtctgtcatctcctataaGacagaagaaaagcccatctt	7	10	4	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:7842008G>A	ENST00000356708.7	+	6	670	c.591G>A	c.(589-591)aaG>aaA	p.K197K	ATP5C1_ENST00000541227.1_Silent_p.K150K|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Silent_p.K197K	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	197					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTCCTATAAGACAGAAGAAA	0.299																																					Melanoma(143;1012 1820 16249 30920 33158)												0													109	116	113					10																	7842008		2203	4300	6503	SO:0001819	synonymous_variant	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.591G>A	10.37:g.7842008G>A			A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu	p.K197	ENST00000356708.7	37	c.591	CCDS31142.1	10																																																																																			ATP5C1	-	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu		0.299	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5C1	HGNC	protein_coding	OTTHUMT00000046708.1	G	NM_005174		7842008	1	no_errors	ENST00000356708	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7842008	G	A	7842008	2	1	154	1	0	0	0	0	0	0	0	1	1150	933	33	1		1	ATP5C1	10	7842008	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		7842008	127692739	198	27616										
USP6NL	9712	genome.wustl.edu	37	chr10	11523855	11523855	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caaaatcatcttcaaagaaaAaatcctttgccagggtctcc	5	11	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:11523855A>T	ENST00000609104.1	-	14	1386	c.992T>A	c.(991-993)tTt>tAt	p.F331Y	USP6NL_ENST00000277575.5_Missense_Mutation_p.F348Y|USP6NL_ENST00000379237.2_Missense_Mutation_p.F354Y	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	331					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCAAAGAAAAAATCCTTTGC	0.368																																																	0													45	43	44					10																	11523855		1793	4061	5854	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.992T>A	10.37:g.11523855A>T	ENSP00000476462:p.Phe331Tyr		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F348Y	ENST00000609104.1	37	c.1043	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801366	0.90538	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.23552	1.9;1.9	5.55	5.55	0.83447	Rab-GAP/TBC domain (1);	0.104334	0.64402	D	0.000002	T	0.44582	0.1300	M	0.81802	2.56	0.80722	D	1	P;P	0.37824	0.609;0.537	B;P	0.47251	0.436;0.542	T	0.41538	-0.9503	10	0.48119	T	0.1	.	15.6977	0.77512	1.0:0.0:0.0:0.0	.	331;348	Q92738;Q92738-2	US6NL_HUMAN;.	Y	331;348;331	ENSP00000277575:F348Y;ENSP00000368539:F331Y	ENSP00000277575:F348Y	F	-	2	0	USP6NL	11563861	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.779000	0.91792	2.107000	0.64212	0.482000	0.46254	TTT	USP6NL	-	superfamily_Rab-GTPase-TBC_dom		0.368	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	A	NM_014688		11523855	-1	no_errors	ENST00000277575	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11523855	A	T	11523855	3	4	154	1	0	0	0	0	1	0	0	0	17118	14	1	5	1502	5	USP6NL	10	11523855	Missense_Mutation	SNP	A	TCGA-IR-A3LL-01A-11D-A20U-09	3681847	11523855	124010892	199	27617										
UPF2	26019	genome.wustl.edu	37	chr10	11971866	11971866	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagtaatgactgctttacctCccaccagtcttaaagattag	7	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:11971866C>T	ENST00000356352.2	-	20	4280	c.3807G>A	c.(3805-3807)ggG>ggA	p.G1269G	UPF2_ENST00000397053.2_Silent_p.G1269G|UPF2_ENST00000357604.5_Silent_p.G1269G			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1269	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGCTTTACCTCCCACCAGTCT	0.468																																																	0													161	145	150					10																	11971866		2203	4300	6503	SO:0001819	synonymous_variant	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3807G>A	10.37:g.11971866C>T			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.G1269	ENST00000356352.2	37	c.3807	CCDS7086.1	10																																																																																			UPF2	-	NULL		0.468	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			11971866	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11971866	C	T	11971866	2	4	154	1	0	0	0	0	0	0	0	1	17035	842	30	1		1	UPF2	10	11971866	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	448011	11971866	123562881	200	27618										
UPF2	26019	genome.wustl.edu	37	chr10	11971934	11971934	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttggtagcgaggccgcctctCacgattggtgtttgctggag	15	9	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:11971934C>T	ENST00000356352.2	-	20	4212	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	UPF2_ENST00000397053.2_Missense_Mutation_p.E1247K|UPF2_ENST00000357604.5_Missense_Mutation_p.E1247K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1247	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGCCGCCTCTCACGATTGGTG	0.463																																																	0													154	139	144					10																	11971934		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3739G>A	10.37:g.11971934C>T	ENSP00000348708:p.Glu1247Lys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E1247K	ENST00000356352.2	37	c.3739	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971693	0.74246	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.44881	0.91;0.91;0.91	5.23	5.23	0.72850	.	0.128575	0.51477	D	0.000100	T	0.36880	0.0983	L	0.60455	1.87	0.58432	D	0.999997	P	0.37781	0.608	B	0.26864	0.074	T	0.25984	-1.0116	10	0.19147	T	0.46	.	18.7827	0.91941	0.0:1.0:0.0:0.0	.	1247	Q9HAU5	RENT2_HUMAN	K	1247	ENSP00000348708:E1247K;ENSP00000350221:E1247K;ENSP00000380244:E1247K	ENSP00000348708:E1247K	E	-	1	0	UPF2	12011940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.270000	0.78493	2.439000	0.82584	0.462000	0.41574	GAG	UPF2	-	NULL		0.463	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			11971934	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11971934	C	T	11971934	3	4	154	1	0	0	0	0	1	0	0	0	17035	835	29	1	87	1	UPF2	10	11971934	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	68	11971934	123562813	201	27619										
UPF2	26019	genome.wustl.edu	37	chr10	11994167	11994167	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcttagcagttctagtgtatCactgatcatgtaatctatat	6	7	5	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:11994167C>G	ENST00000356352.2	-	14	3405	c.2932G>C	c.(2932-2934)Gat>Cat	p.D978H	UPF2_ENST00000397053.2_Missense_Mutation_p.D978H|UPF2_ENST00000357604.5_Missense_Mutation_p.D978H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	978	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTAGTGTATCACTGATCATG	0.353																																																	0													162	157	159					10																	11994167		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2932G>C	10.37:g.11994167C>G	ENSP00000348708:p.Asp978His		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.D978H	ENST00000356352.2	37	c.2932	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623406	0.87460	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.26810	1.71;1.71;1.71	5.48	5.48	0.80851	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.052886	0.64402	D	0.000001	T	0.63522	0.2518	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72411	-0.4302	10	0.87932	D	0	.	19.7018	0.96057	0.0:1.0:0.0:0.0	.	978	Q9HAU5	RENT2_HUMAN	H	978	ENSP00000348708:D978H;ENSP00000350221:D978H;ENSP00000380244:D978H	ENSP00000348708:D978H	D	-	1	0	UPF2	12034173	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	GAT	UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			11994167	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11994167	C	G	11994167	3	3	154	1	0	0	0	0	1	0	0	0	17035	826	29	1	918	1	UPF2	10	11994167	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	22233	11994167	123540580	202	27620										
ITGB1	3688	genome.wustl.edu	37	chr10	33218789	33218789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caactgctgtggttggatctGagtaatatcctctggcttga	11	8	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:33218789G>C	ENST00000396033.2	-	4	472	c.337C>G	c.(337-339)Cag>Gag	p.Q113E	ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q113E|ITGB1_ENST00000374956.4_Missense_Mutation_p.Q113E|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q113E	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	113					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GGTTGGATCTGAGTAATATCC	0.423																																																	0													339	326	330					10																	33218789		2203	4300	6503	SO:0001583	missense	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.337C>G	10.37:g.33218789G>C	ENSP00000379350:p.Gln113Glu		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.Q113E	ENST00000396033.2	37	c.337	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892247	0.91889	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226;ENST00000474568;ENST00000488494;ENST00000534049;ENST00000437302;ENST00000475184	D;D;D;D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.49	5.49	0.81192	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.996;0.996;0.996;0.998	D;D;D;D;D	0.81914	0.981;0.989;0.995;0.919;0.994	D	0.98934	1.0788	10	0.87932	D	0	.	19.3752	0.94505	0.0:0.0:1.0:0.0	.	113;113;113;113;113	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	E	113;113;113;113;113;56;116;113;113;113	ENSP00000379350:Q113E;ENSP00000388694:Q113E;ENSP00000303351:Q113E;ENSP00000364094:Q113E;ENSP00000417537:Q113E;ENSP00000420282:Q56E;ENSP00000418725:Q116E;ENSP00000431326:Q113E;ENSP00000398029:Q113E;ENSP00000417243:Q113E	ENSP00000303351:Q113E	Q	-	1	0	ITGB1	33258795	1.000000	0.71417	0.948000	0.38648	0.979000	0.70002	9.869000	0.99810	2.576000	0.86940	0.591000	0.81541	CAG	ITGB1	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu		0.423	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	G	NM_002211		33218789	-1	no_errors	ENST00000374956	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33218789	G	C	33218789	3	2	154	1	0	0	0	0	1	0	0	0	7910	1299	45	1	2349	1	ITGB1	10	33218789	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	21224622	33218789	102315958	203	27621										
PPYR1	5540	genome.wustl.edu	37	chr10	47087122	47087122	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggatctttggagagaccctCtgcaagatgtcggccttcat	11	10	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:47087122C>T	ENST00000395716.1	+	2	424	c.339C>T	c.(337-339)ctC>ctT	p.L113L	NPY4R_ENST00000374312.1_Silent_p.L113L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	113					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GAGAGACCCTCTGCAAGATGT	0.582																																																	0													253	232	239					10																	47087122		2203	4300	6503	SO:0001819	synonymous_variant	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.339C>T	10.37:g.47087122C>T			Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L113	ENST00000395716.1	37	c.339	CCDS31193.1	10																																																																																			PPYR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	C			47087122	1	no_errors	ENST00000374312	ensembl	human	known	70_37	silent	SNP	0.502	T	T	47087122	C	T	47087122	2	4	154	1	0	0	0	0	0	0	0	1	12443	900	32	1		1	PPYR1	10	47087122	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	13868333	47087122	88447625	204	27622										
C10orf71	118461	genome.wustl.edu	37	chr10	50534536	50534536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggtctccatcccgtcctccGagggggcctccccagagccg	12	18	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:50534536G>A	ENST00000374144.3	+	3	4234	c.3946G>A	c.(3946-3948)Gag>Aag	p.E1316K	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1316										endometrium(1)	1						CCCGTCCTCCGAGGGGGCCTC	0.632																																																	0													3	3	3					10																	50534536		621	1449	2070	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3946G>A	10.37:g.50534536G>A	ENSP00000363259:p.Glu1316Lys		A0AVL8	Missense_Mutation	SNP	NULL	p.E1316K	ENST00000374144.3	37	c.3946	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	g	14.22	2.469364	0.43839	.	.	ENSG00000177354	ENST00000374144	T	0.45276	0.9	5.65	4.75	0.60458	.	0.634090	0.12999	U	0.421793	T	0.48909	0.1526	L	0.54323	1.7	0.24619	N	0.993685	.	.	.	.	.	.	T	0.43925	-0.9361	8	0.66056	D	0.02	.	11.4358	0.50068	0.1441:0.0:0.8559:0.0	.	.	.	.	K	1316	ENSP00000363259:E1316K	ENSP00000363259:E1316K	E	+	1	0	C10orf71	50204542	0.988000	0.35896	0.070000	0.20053	0.394000	0.30568	1.957000	0.40392	1.402000	0.46780	0.298000	0.19748	GAG	C10orf71	-	NULL		0.632	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	G	NM_199459		50534536	1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.077	A	A	50534536	G	A	50534536	3	1	154	1	0	0	0	0	1	0	0	0	1618	1059	37	1	3948	1	C10orf71	10	50534536	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3447414	50534536	85000211	205	27623										
ZWINT	11130	genome.wustl.edu	37	chr10	58118684	58118684	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctcacctctgcagaaacctCcgccagatgctgcagatgct	8	16	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:58118684C>A	ENST00000373944.3	-	6	543	c.505G>T	c.(505-507)Gag>Tag	p.E169*	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Nonsense_Mutation_p.E169*|ZWINT_ENST00000395405.1_Nonsense_Mutation_p.E169*|ZWINT_ENST00000318387.2_Nonsense_Mutation_p.E49*			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	169					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGAAACCTCCGCCAGATGC	0.527																																																	0													78	75	76					10																	58118684		2203	4300	6503	SO:0001587	stop_gained	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.505G>T	10.37:g.58118684C>A	ENSP00000363055:p.Glu169*		A6NNV6|Q0D2I3|Q9BWD0	Nonsense_Mutation	SNP	NULL	p.E169*	ENST00000373944.3	37	c.505	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458853	0.26248	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	.	.	.	4.7	0.833	0.18875	.	0.359030	0.20961	N	0.082565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-23.4475	8.8668	0.35291	0.0:0.6574:0.0:0.3426	.	.	.	.	X	169;169;49;169	.	ENSP00000322850:E49X	E	-	1	0	ZWINT	57788690	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.376000	0.07465	-0.027000	0.13873	-0.797000	0.03246	GAG	ZWINT	-	NULL		0.527	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	C			58118684	-1	no_errors	ENST00000373944	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	58118684	C	A	58118684	4	1	154	1	0	0	0	0	0	1	0	0	18279	864	30	3	340	3	ZWINT	10	58118684	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	7584148	58118684	77416063	206	27624										
ANK3	288	genome.wustl.edu	37	chr10	61832718	61832718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacccactcatcattggatgCcagcagttctgtcagtagca	8	12	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:61832718C>T	ENST00000280772.2	-	37	8112	c.7921G>A	c.(7921-7923)Gca>Aca	p.A2641T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2641					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATTGGATGCCAGCAGTTCT	0.537																																																	0													106	82	90					10																	61832718		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7921G>A	10.37:g.61832718C>T	ENSP00000280772:p.Ala2641Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.A2641T	ENST00000280772.2	37	c.7921	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	4.338	0.062096	0.08339	.	.	ENSG00000151150	ENST00000280772	T	0.63096	-0.02	5.93	3.75	0.43078	.	0.350494	0.20655	N	0.088138	T	0.33000	0.0848	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.12553	-1.0543	10	0.12430	T	0.62	.	4.1976	0.10450	0.2404:0.5216:0.1177:0.1203	.	2641	Q12955	ANK3_HUMAN	T	2641	ENSP00000280772:A2641T	ENSP00000280772:A2641T	A	-	1	0	ANK3	61502724	0.000000	0.05858	0.790000	0.31976	0.009000	0.06853	0.654000	0.24918	1.507000	0.48752	0.561000	0.74099	GCA	ANK3	-	NULL		0.537	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61832718	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	0.002	T	T	61832718	C	T	61832718	3	4	154	1	0	0	0	0	1	0	0	0	622	739	26	4	5553	4	ANK3	10	61832718	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3714034	61832718	73702029	207	27625										
JMJD1C	221037	genome.wustl.edu	37	chr10	64974005	64974005	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgggtttaacaacttcaggtGatgggctggattttatcttg	12	5	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:64974005G>A	ENST00000399262.2	-	8	2140	c.1922C>T	c.(1921-1923)tCa>tTa	p.S641L	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S422L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S459L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S422L|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	641					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AACTTCAGGTGATGGGCTGGA	0.393																																																	0													131	119	123					10																	64974005		1869	4107	5976	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1922C>T	10.37:g.64974005G>A	ENSP00000382204:p.Ser641Leu		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S641L	ENST00000399262.2	37	c.1922	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	9.408	1.079896	0.20309	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	6.11	5.03	0.67393	.	0.245457	0.35870	N	0.002932	T	0.39009	0.1062	N	0.22421	0.69	0.39994	D	0.975074	B;B	0.15141	0.007;0.012	B;B	0.11329	0.006;0.004	T	0.14727	-1.0462	10	0.23891	T	0.37	-13.0328	15.2591	0.73606	0.0798:0.0:0.9202:0.0	.	641;459	Q15652;A0T124	JHD2C_HUMAN;.	L	641;422;422;459	ENSP00000382204:S641L;ENSP00000384990:S422L;ENSP00000382195:S422L;ENSP00000444682:S459L	ENSP00000382195:S422L	S	-	2	0	JMJD1C	64644011	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	3.704000	0.54815	2.906000	0.99361	0.655000	0.94253	TCA	JMJD1C	-	NULL		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	G	NM_004241		64974005	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	missense	SNP	0.998	A	A	64974005	G	A	64974005	3	1	154	1	0	0	0	0	1	0	0	0	7970	1294	45	1	5776	1	JMJD1C	10	64974005	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3141287	64974005	70560742	208	27626										
JMJD1C	221037	genome.wustl.edu	37	chr10	64974350	64974350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tctgaaggccaaaggtacttGagttttcctgagccaccttt	9	10	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:64974350G>A	ENST00000399262.2	-	8	1795	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S307L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S344L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S307L|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	526					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAAGGTACTTGAGTTTTCCTG	0.358																																																	0													137	125	129					10																	64974350		1830	4087	5917	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1577C>T	10.37:g.64974350G>A	ENSP00000382204:p.Ser526Leu		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S526L	ENST00000399262.2	37	c.1577	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253551	0.39797	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56611	0.8;0.45;2.46;0.8	6.03	5.12	0.69794	.	0.716692	0.12930	N	0.427432	T	0.49115	0.1538	L	0.43152	1.355	0.29879	N	0.82615	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.49513	-0.8932	10	0.52906	T	0.07	-1.3222	15.759	0.78063	0.0659:0.0:0.9341:0.0	.	526;344	Q15652;A0T124	JHD2C_HUMAN;.	L	526;307;307;344	ENSP00000382204:S526L;ENSP00000384990:S307L;ENSP00000382195:S307L;ENSP00000444682:S344L	ENSP00000382195:S307L	S	-	2	0	JMJD1C	64644356	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	2.992000	0.49417	1.521000	0.48983	0.655000	0.94253	TCA	JMJD1C	-	NULL		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	G	NM_004241		64974350	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	missense	SNP	0.998	A	A	64974350	G	A	64974350	3	1	154	1	0	0	0	0	1	0	0	0	7970	1294	45	1	6121	1	JMJD1C	10	64974350	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	345	64974350	70560397	209	27627										
ATAD1	84896	genome.wustl.edu	37	chr10	89552437	89552437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	catattaagagggtctacaaGatgagcagcaatactcattt	8	7	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:89552437G>A	ENST00000308448.7	-	3	616	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	ATAD1_ENST00000541004.1_Missense_Mutation_p.L80F|ATAD1_ENST00000400215.3_Missense_Mutation_p.L22F|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Missense_Mutation_p.L80F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	80					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GGGTCTACAAGATGAGCAGCA	0.348																																																	0													131	129	130					10																	89552437		2203	4300	6503	SO:0001583	missense	84896			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.238C>T	10.37:g.89552437G>A	ENSP00000339017:p.Leu80Phe		D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.L80F	ENST00000308448.7	37	c.238	CCDS7386.1	10	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308328	0.60305	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.96745	-3.54;-3.54;-4.11;-3.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	L	0.49778	1.585	0.80722	D	1	B;P	0.46142	0.443;0.873	B;P	0.46975	0.38;0.533	D	0.93747	0.7055	9	.	.	.	-10.4649	13.2282	0.59927	0.0729:0.0:0.9271:0.0	.	22;80	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	F	80;80;22;80	ENSP00000339017:L80F;ENSP00000339016:L80F;ENSP00000412968:L22F;ENSP00000445500:L80F	.	L	-	1	0	ATAD1	89542417	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.725000	0.61979	2.798000	0.96311	0.650000	0.86243	CTT	ATAD1	-	NULL		0.348	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD1	HGNC	protein_coding	OTTHUMT00000049235.1	G	NM_032810		89552437	-1	no_errors	ENST00000308448	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89552437	G	A	89552437	3	1	154	1	0	0	0	0	1	0	0	0	1071	942	33	1	879	1	ATAD1	10	89552437	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	24578087	89552437	45982310	210	27628										
LIPK	643414	genome.wustl.edu	37	chr10	90492212	90492212	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacccagaactggctaaaaaGattaagatattttttgcact	6	7	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:90492212G>A	ENST00000404190.1	+	5	573	c.573G>A	c.(571-573)aaG>aaA	p.K191K		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	191					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGGCTAAAAAGATTAAGATAT	0.333																																																	0													126	131	130					10																	90492212		1798	4071	5869	SO:0001819	synonymous_variant	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.573G>A	10.37:g.90492212G>A			A7KIH8	Silent	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.K191	ENST00000404190.1	37	c.573	CCDS44455.1	10																																																																																			LIPK	-	pfam_AB_hydrolase_1		0.333	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPK	HGNC	protein_coding	OTTHUMT00000049253.2	G	XM_061222		90492212	1	no_errors	ENST00000404190	ensembl	human	known	70_37	silent	SNP	0.996	A	A	90492212	G	A	90492212	2	1	154	1	0	0	0	0	0	0	0	1	8848	933	33	1		1	LIPK	10	90492212	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	939775	90492212	45042535	211	27629										
GBF1	8729	genome.wustl.edu	37	chr10	104129049	104129049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cagtattccatttggcccatCgtcatggtgacatcctgcgg	10	12	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:104129049C>T	ENST00000369983.3	+	24	3312	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1018					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTGGCCCATCGTCATGGTGA	0.498																																																	0													143	132	136					10																	104129049		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3052C>T	10.37:g.104129049C>T	ENSP00000359000:p.Arg1018Cys		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.R1018C	ENST00000369983.3	37	c.3052	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889260	0.72524	.	.	ENSG00000107862	ENST00000369983	T	0.69040	-0.37	6.17	5.27	0.74061	.	0.044496	0.85682	N	0.000000	T	0.78704	0.4325	M	0.80183	2.485	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.008	P;P;B	0.61722	0.893;0.891;0.002	T	0.80650	-0.1288	10	0.56958	D	0.05	-5.0549	10.1515	0.42796	0.1363:0.7962:0.0:0.0675	.	1018;1018;1018	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	1018	ENSP00000359000:R1018C	ENSP00000359000:R1018C	R	+	1	0	GBF1	104119039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.510000	0.45468	1.630000	0.50440	0.655000	0.94253	CGT	GBF1	-	NULL		0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	C			104129049	1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104129049	C	T	104129049	3	4	154	1	0	0	0	0	1	0	0	0	6290	884	31	1	3142	1	GBF1	10	104129049	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	13636837	104129049	31405698	212	27630										
PSD	5662	genome.wustl.edu	37	chr10	104174660	104174660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaacacctcgtcgtccacatCttcttccccacctgcctcat	3	19	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:104174660C>T	ENST00000020673.5	-	4	1610	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.D362N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	362					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCGTCCACATCTTCTTCCCCA	0.657																																																	0													115	99	104					10																	104174660		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1084G>A	10.37:g.104174660C>T	ENSP00000020673:p.Asp362Asn		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.D362N	ENST00000020673.5	37	c.1084	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547578	0.65311	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.17370	2.28;2.28	5.31	5.31	0.75309	.	0.327658	0.30879	N	0.008690	T	0.07954	0.0199	N	0.08118	0	0.31470	N	0.668471	B	0.33694	0.421	B	0.24848	0.056	T	0.09796	-1.0658	10	0.33940	T	0.23	.	11.0944	0.48134	0.0:0.9137:0.0:0.0863	.	362	A5PKW4	PSD1_HUMAN	N	362;265;362	ENSP00000020673:D362N;ENSP00000384830:D362N	ENSP00000020673:D362N	D	-	1	0	PSD	104164650	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.047000	0.49854	2.484000	0.83849	0.561000	0.74099	GAT	PSD	-	NULL		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	C			104174660	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104174660	C	T	104174660	3	4	154	1	0	0	0	0	1	0	0	0	12673	913	32	1	2046	1	PSD	10	104174660	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	45611	104174660	31360087	213	27631										
CNNM2	54805	genome.wustl.edu	37	chr10	104679239	104679239	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	accacgctcaccatcctgctCgacgacatcgccggctcggg	10	18	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:104679239C>G	ENST00000369878.4	+	1	1190	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	CNNM2_ENST00000369875.3_Silent_p.L334L|CNNM2_ENST00000433628.2_Silent_p.L334L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	334	DUF21.				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)			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)		CCATCCTGCTCGACGACATCG	0.647																																																	0													69	60	63					10																	104679239		2203	4299	6502	SO:0001819	synonymous_variant	54805			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.1002C>G	10.37:g.104679239C>G			Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.L334	ENST00000369878.4	37	c.1002	CCDS44474.1	10																																																																																			CNNM2	-	pfam_DUF21		0.647	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	C	NM_017649		104679239	1	no_errors	ENST00000457502	ensembl	human	known	70_37	silent	SNP	1.000	G	G	104679239	C	G	104679239	2	3	154	1	0	0	0	0	0	0	0	1	3618	871	31	1		1	CNNM2	10	104679239	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	504579	104679239	30855508	214	27632										
INA	9118	genome.wustl.edu	37	chr10	105048215	105048215	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagttacctgctcccacctaGaatcctcagtgctacaacct	5	15	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:105048215G>A	ENST00000369849.4	+	3	1338	c.1289G>A	c.(1288-1290)aGa>aAa	p.R430K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	430	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTCCCACCTAGAATCCTCAGT	0.502																																																	0													127	121	123					10																	105048215		2203	4300	6503	SO:0001583	missense	9118			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1289G>A	10.37:g.105048215G>A	ENSP00000358865:p.Arg430Lys		B1AQK0|Q9BRC5	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.R430K	ENST00000369849.4	37	c.1289	CCDS7545.1	10	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074204	0.20227	.	.	ENSG00000148798	ENST00000369849	D	0.82893	-1.66	5.17	5.17	0.71159	.	0.057184	0.64402	D	0.000002	T	0.71256	0.3318	N	0.24115	0.695	0.37215	D	0.904984	B	0.23377	0.084	B	0.26202	0.067	T	0.66662	-0.5867	10	0.06236	T	0.91	.	15.6908	0.77450	0.0:0.0:1.0:0.0	.	430	Q16352	AINX_HUMAN	K	430	ENSP00000358865:R430K	ENSP00000358865:R430K	R	+	2	0	INA	105038205	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.542000	0.60677	2.690000	0.91761	0.555000	0.69702	AGA	INA	-	NULL		0.502	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INA	HGNC	protein_coding	OTTHUMT00000050145.1	G	NM_032727		105048215	1	no_errors	ENST00000369849	ensembl	human	known	70_37	missense	SNP	0.991	A	A	105048215	G	A	105048215	3	1	154	1	0	0	0	0	1	0	0	0	7750	942	33	1	1299	1	INA	10	105048215	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	368976	105048215	30486532	215	27633										
PCGF6	84108	genome.wustl.edu	37	chr10	105107191	105107191	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	taatttgtacactatgtcttGtaactgtcggtccaacctaa	6	9	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:105107191G>C	ENST00000369847.3	-	4	641	c.574C>G	c.(574-576)Caa>Gaa	p.Q192E	PCGF6_ENST00000337211.4_Intron|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	192					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		ACTATGTCTTGTAACTGTCGG	0.343																																																	0													100	98	99					10																	105107191		2203	4299	6502	SO:0001583	missense	84108			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.574C>G	10.37:g.105107191G>C	ENSP00000358862:p.Gln192Glu		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q192E	ENST00000369847.3	37	c.574	CCDS31275.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051666	0.75960	.	.	ENSG00000156374	ENST00000369847	T	0.37058	1.22	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);	0.059777	0.64402	N	0.000002	T	0.59348	0.2187	M	0.69823	2.125	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.59894	-0.7368	10	0.52906	T	0.07	.	17.7349	0.88390	0.0:0.0:1.0:0.0	.	192	Q9BYE7	PCGF6_HUMAN	E	192	ENSP00000358862:Q192E	ENSP00000358862:Q192E	Q	-	1	0	PCGF6	105097181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.840000	0.92125	2.518000	0.84900	0.462000	0.41574	CAA	PCGF6	-	NULL		0.343	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1	G	NM_032154		105107191	-1	no_errors	ENST00000369847	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105107191	G	C	105107191	3	2	154	1	0	0	0	0	1	0	0	0	11602	1386	48	4	506	4	PCGF6	10	105107191	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	58976	105107191	30427556	216	27634										
COL17A1	1308	genome.wustl.edu	37	chr10	105815621	105815621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actgtgcagcccaattttgtCcaggtctgctcccgccgcgg	11	15	1	0	rs373205740		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:105815621C>T	ENST00000353479.5	-	18	1896	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	COL17A1_ENST00000369733.3_Missense_Mutation_p.D536N|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	536	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAATTTTGTCCAGGTCTGCT	0.567																																																	0								C	ASN/ASP	0,4406		0,0,2203	96	94	94		1606	2.2	0	10		94	2,8598	3.0+/-9.4	0,2,4298	no	missense	COL17A1	NM_000494.3	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	536/1498	105815621	2,13004	2203	4300	6503	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1606G>A	10.37:g.105815621C>T	ENSP00000340937:p.Asp536Asn		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.D536N	ENST00000353479.5	37	c.1606	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895887	0.33442	0.0	2.33E-4	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	D;D	0.90955	-2.76;-2.76	5.1	2.22	0.28083	.	0.645425	0.13354	N	0.394208	D	0.82582	0.5068	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.19817	0.034;0.039	B;B	0.25291	0.059;0.018	T	0.69194	-0.5209	10	0.35671	T	0.21	-0.0085	7.4618	0.27300	0.0:0.6531:0.0:0.3469	.	536;536	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	N	536;536;520	ENSP00000340937:D536N;ENSP00000358748:D536N	ENSP00000340937:D536N	D	-	1	0	COL17A1	105805611	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.795000	0.26972	0.183000	0.20059	-0.379000	0.06801	GAC	COL17A1	-	NULL		0.567	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105815621	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	missense	SNP	0.001	T	T	105815621	C	T	105815621	3	4	154	1	0	0	0	0	1	0	0	0	3679	855	30	1	3043	1	COL17A1	10	105815621	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	708430	105815621	29719126	217	27635										
GSTO1	9446	genome.wustl.edu	37	chr10	106014929	106014929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tctccccggcaggaagcgcgCccccggggccggtcccggag	16	18	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr10:106014929C>A	ENST00000369713.5	+	2	237	c.43C>A	c.(43-45)Ccc>Acc	p.P15T	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P15T|GSTO1_ENST00000539281.1_5'UTR	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	15					cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	AGGAAGCGCGCCCCCGGGGCC	0.677																																																	0													26	32	30					10																	106014929		2201	4297	6498	SO:0001583	missense	9446			AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.43C>A	10.37:g.106014929C>A	ENSP00000358727:p.Pro15Thr		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega	p.P15T	ENST00000369713.5	37	c.43	CCDS7555.1	10	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605693	0.46527	.	.	ENSG00000148834	ENST00000369710;ENST00000369713	T;T	0.09163	3.01;3.59	4.85	3.92	0.45320	Thioredoxin-like fold (2);	0.196419	0.52532	D	0.000076	T	0.14056	0.0340	M	0.71581	2.175	0.80722	D	1	B	0.21225	0.053	B	0.23150	0.044	T	0.04413	-1.0953	10	0.17369	T	0.5	-5.8562	13.4822	0.61342	0.0:0.5004:0.4996:0.0	.	15	P78417	GSTO1_HUMAN	T	15	ENSP00000358724:P15T;ENSP00000358727:P15T	ENSP00000358724:P15T	P	+	1	0	GSTO1	106004919	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	2.780000	0.47742	1.211000	0.43351	0.491000	0.48974	CCC	GSTO1	-	superfamily_Thioredoxin-like_fold		0.677	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTO1	HGNC	protein_coding	OTTHUMT00000050193.1	C	NM_004832		106014929	1	no_errors	ENST00000369713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	106014929	C	A	106014929	3	1	154	1	0	0	0	0	1	0	0	0	6862	739	26	4	49	4	GSTO1	10	106014929	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	199308	106014929	29519818	218	27636										
ANO9	338440	genome.wustl.edu	37	chr11	431747	431747	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtctccaccgcgcccacgtCttcttcaggcgtccctcccc	7	21	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:431747C>G	ENST00000332826.6	-	7	570	c.486G>C	c.(484-486)aaG>aaC	p.K162N		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	162					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCGCCCACGTCTTCTTCAGGC	0.672																																																	0													60	59	60					11																	431747		2203	4298	6501	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.486G>C	11.37:g.431747C>G	ENSP00000332788:p.Lys162Asn		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	pfam_Anoctamin	p.K162N	ENST00000332826.6	37	c.486	CCDS31326.1	11	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434702	0.12045	.	.	ENSG00000185101	ENST00000332826	T	0.69040	-0.37	3.97	-5.88	0.02290	.	1.168980	0.06732	U	0.776742	T	0.44664	0.1304	N	0.20986	0.625	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.25502	-1.0130	10	0.36615	T	0.2	.	4.5712	0.12210	0.228:0.3781:0.0:0.3938	.	162	A1A5B4	ANO9_HUMAN	N	162	ENSP00000332788:K162N	ENSP00000332788:K162N	K	-	3	2	ANO9	421747	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.681000	0.05191	-0.922000	0.03789	-1.460000	0.01027	AAG	ANO9	-	NULL		0.672	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	C	NM_001012302		431747	-1	no_errors	ENST00000332826	ensembl	human	known	70_37	missense	SNP	0.000	G	G	431747	C	G	431747	3	3	154	1	0	0	0	0	1	0	0	0	704	912	32	1	1930	1	ANO9	11	431747	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		431747	134574769	219	27637										
MUC2	4583	genome.wustl.edu	37	chr11	1092256	1092256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gccagaaggtgcagtgtgatGtctctgttgggttcatttgc	14	7	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:1092256G>A	ENST00000441003.2	+	30	4102	c.4075G>A	c.(4075-4077)Gtc>Atc	p.V1359I	MUC2_ENST00000361558.6_Missense_Mutation_p.V25I|MUC2_ENST00000359061.5_Missense_Mutation_p.V1360I|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1359					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCAGTGTGATGTCTCTGTTGG	0.517																																																	0													142	161	154					11																	1092256		2155	4243	6398	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4075G>A	11.37:g.1092256G>A	ENSP00000415183:p.Val1359Ile		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V1359I	ENST00000441003.2	37	c.4075		11	.	.	.	.	.	.	.	.	.	.	g	4.939	0.174406	0.09391	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	T;T;T	0.17691	2.51;2.26;2.26	2.72	-2.82	0.05787	.	417.740000	0.01478	U	0.016543	T	0.26195	0.0639	L	0.48986	1.54	0.09310	N	1	P	0.50066	0.931	P	0.54270	0.747	T	0.40646	-0.9552	10	0.20046	T	0.44	.	8.7856	0.34818	0.0923:0.4144:0.4933:0.0	.	1359	E7EUV1	.	I	1359;1360;25	ENSP00000415183:V1359I;ENSP00000351956:V1360I;ENSP00000354885:V25I	ENSP00000351956:V1360I	V	+	1	0	MUC2	1082256	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.310000	0.08135	-0.264000	0.09365	-0.524000	0.04348	GTC	MUC2	-	NULL		0.517	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1092256	1	no_errors	ENST00000441003	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1092256	G	A	1092256	3	1	154	1	0	0	0	0	1	0	0	0	9998	1377	48	4	4193	4	MUC2	11	1092256	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	660509	1092256	133914260	220	27638										
OSBPL5	114879	genome.wustl.edu	37	chr11	3140812	3140812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggccctgaagatcaggtagCtgctgggcaggggctgtgtg	18	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:3140812C>A	ENST00000263650.7	-	7	815	c.656G>T	c.(655-657)aGc>aTc	p.S219I	OSBPL5_ENST00000348039.5_Missense_Mutation_p.S151I|OSBPL5_ENST00000389989.3_Missense_Mutation_p.S151I|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S130I|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	219	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GATCAGGTAGCTGCTGGGCAG	0.642																																																	0													87	84	85					11																	3140812		2202	4298	6500	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.656G>T	11.37:g.3140812C>A	ENSP00000263650:p.Ser219Ile		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S219I	ENST00000263650.7	37	c.656	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071656	0.76301	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.76316	-1.01;1.22;2.68;1.22	4.33	3.38	0.38709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.060094	0.64402	D	0.000003	D	0.84732	0.5537	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.71674	0.996;0.992;0.996;0.998	D;D;D;D	0.74674	0.944;0.942;0.944;0.984	D	0.86123	0.1570	10	0.87932	D	0	0.1912	13.9294	0.63986	0.0:0.8465:0.1534:0.0	.	130;180;151;219	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	I	219;151;130;151	ENSP00000263650:S219I;ENSP00000374639:S151I;ENSP00000433342:S130I;ENSP00000302872:S151I	ENSP00000263650:S219I	S	-	2	0	OSBPL5	3097388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.217000	0.51184	0.997000	0.38969	0.561000	0.74099	AGC	OSBPL5	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3140812	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3140812	C	A	3140812	3	1	154	1	0	0	0	0	1	0	0	0	11304	797	28	4	2047	4	OSBPL5	11	3140812	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2048556	3140812	131865704	221	27639										
OR52R1	119695	genome.wustl.edu	37	chr11	4824913	4824913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctttgaggcgggcttcacctGagggcaactgaagcacagct	13	11	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:4824913G>A	ENST00000356069.2	-	1	697	c.698C>T	c.(697-699)tCa>tTa	p.S233L	OR52R1_ENST00000380382.1_Missense_Mutation_p.S312L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTCACCTGAGGGCAACTG	0.483																																																	0													77	73	74					11																	4824913		2201	4298	6499	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.698C>T	11.37:g.4824913G>A	ENSP00000348368:p.Ser233Leu		Q6IFI0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S312L	ENST00000356069.2	37	c.935	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035341	0.54896	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00330	8.08;8.08	5.57	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.156711	0.29972	N	0.010726	T	0.00936	0.0031	H	0.96916	3.905	0.09310	N	1	D	0.53462	0.96	P	0.57009	0.811	T	0.24693	-1.0153	10	0.87932	D	0	.	7.5979	0.28058	0.0757:0.0:0.6326:0.2917	.	233	Q8NGF1	O52R1_HUMAN	L	233;312	ENSP00000348368:S233L;ENSP00000369742:S312L	ENSP00000348368:S233L	S	-	2	0	OR52R1	4781489	0.001000	0.12720	0.307000	0.25127	0.966000	0.64601	1.076000	0.30729	0.879000	0.35944	0.650000	0.86243	TCA	OR52R1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	HGNC	protein_coding	OTTHUMT00000142183.1	G	NM_001005177		4824913	-1	no_errors	ENST00000380382	ensembl	human	known	70_37	missense	SNP	0.001	A	A	4824913	G	A	4824913	3	1	154	1	0	0	0	0	1	0	0	0	11155	1294	45	1	252	1	OR52R1	11	4824913	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1684101	4824913	130181603	222	27640										
DCHS1	8642	genome.wustl.edu	37	chr11	6650967	6650967	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggagggttgttctcacgcaaGaggacgctgtactcctgctg	14	10	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:6650967G>C	ENST00000299441.3	-	11	5382	c.4971C>G	c.(4969-4971)ctC>ctG	p.L1657L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1657	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCACGCAAGAGGACGCTGT	0.632																																																	0													39	39	39					11																	6650967		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4971C>G	11.37:g.6650967G>C			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1657	ENST00000299441.3	37	c.4971	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6650967	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.488	C	C	6650967	G	C	6650967	2	2	154	1	0	0	0	0	0	0	0	1	4292	929	33	1		1	DCHS1	11	6650967	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1826054	6650967	128355549	223	27641										
ARNTL	406	genome.wustl.edu	37	chr11	13399978	13399978	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgaatgattgctgaggaaatCatggaaatccacaggcaagt	11	7	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:13399978C>T	ENST00000403290.1	+	17	1864	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000401424.1_Silent_p.I460I|ARNTL_ENST00000361003.4_Silent_p.I385I|ARNTL_ENST00000396441.3_Silent_p.I502I|ARNTL_ENST00000403510.3_Silent_p.I459I|ARNTL_ENST00000389707.4_Silent_p.I502I|ARNTL_ENST00000403482.3_Silent_p.I501I			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	503					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTGAGGAAATCATGGAAATCC	0.502																																																	0													60	61	61					11																	13399978		2200	4294	6494	SO:0001819	synonymous_variant	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1509C>T	11.37:g.13399978C>T			A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.I503	ENST00000403290.1	37	c.1509		11																																																																																			ARNTL	-	NULL		0.502	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	C	NM_001178		13399978	1	no_errors	ENST00000403290	ensembl	human	known	70_37	silent	SNP	1.000	T	T	13399978	C	T	13399978	2	4	154	1	0	0	0	0	0	0	0	1	968	816	29	1		1	ARNTL	11	13399978	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6749011	13399978	121606538	224	27642										
ZDHHC5	25921	genome.wustl.edu	37	chr11	57466416	57466416	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctatacctctcccttcctgtCagccaggctggcccagcaac	7	18	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:57466416C>T	ENST00000287169.3	+	11	2870	c.1508C>T	c.(1507-1509)tCa>tTa	p.S503L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S450L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	503					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCCTTCCTGTCAGCCAGGCTG	0.582																																																	0													61	56	58					11																	57466416		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1508C>T	11.37:g.57466416C>T	ENSP00000287169:p.Ser503Leu		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.S503L	ENST00000287169.3	37	c.1508	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981631	0.74474	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.61510	0.1;1.1	5.09	5.09	0.68999	.	0.169925	0.39687	N	0.001281	T	0.58694	0.2140	L	0.47190	1.495	0.58432	D	0.999999	P	0.43938	0.822	P	0.44732	0.459	T	0.62062	-0.6933	10	0.54805	T	0.06	-15.0725	18.2951	0.90143	0.0:1.0:0.0:0.0	.	503	Q9C0B5	ZDHC5_HUMAN	L	450;503	ENSP00000432202:S450L;ENSP00000287169:S503L	ENSP00000287169:S503L	S	+	2	0	ZDHHC5	57222992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.718000	0.74713	2.656000	0.90262	0.563000	0.77884	TCA	ZDHHC5	-	NULL		0.582	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	C	NM_015457		57466416	1	no_errors	ENST00000287169	ensembl	human	known	70_37	missense	SNP	0.999	T	T	57466416	C	T	57466416	3	4	154	1	0	0	0	0	1	0	0	0	17648	838	29	1	1546	1	ZDHHC5	11	57466416	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	44066438	57466416	77540100	225	27643										
FEN1	2237	genome.wustl.edu	37	chr11	61563334	61563334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gccagctgtgctgccctggtGaaggctggcaaagtctatgc	14	11	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:61563334G>A	ENST00000305885.2	+	2	914	c.501G>A	c.(499-501)gtG>gtA	p.V167V	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CTGCCCTGGTGAAGGCTGGCA	0.562								Editing and processing nucleases																																									0													62	63	63					11																	61563334		2202	4298	6500	SO:0001819	synonymous_variant	2237			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.501G>A	11.37:g.61563334G>A				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.V167	ENST00000305885.2	37	c.501	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair		0.562	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1	G	NM_004111		61563334	1	no_errors	ENST00000305885	ensembl	human	known	70_37	silent	SNP	1.000	A	A	61563334	G	A	61563334	2	1	154	1	0	0	0	0	0	0	0	1	5830	1277	45	1		1	FEN1	11	61563334	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4096918	61563334	73443182	226	27644										
PCNXL3	399909	genome.wustl.edu	37	chr11	65395032	65395032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttctgcttgactacttcctCatgtccctgctttgcagcaa	6	13	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:65395032C>T	ENST00000355703.3	+	22	4220	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1227						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ACTACTTCCTCATGTCCCTGC	0.592																																																	0													161	160	160					11																	65395032		2030	4195	6225	SO:0001819	synonymous_variant	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3681C>T	11.37:g.65395032C>T			Q6MZN8	Silent	SNP	pfam_Pecanex	p.L1227	ENST00000355703.3	37	c.3681	CCDS44650.1	11																																																																																			PCNXL3	-	NULL		0.592	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65395032	1	no_errors	ENST00000355703	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65395032	C	T	65395032	2	4	154	1	0	0	0	0	0	0	0	1	11617	813	29	1		1	PCNXL3	11	65395032	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3831698	65395032	69611484	227	27645										
STARD10	10809	genome.wustl.edu	37	chr11	72470394	72470394	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtaggacgtcgtagagtgtCtcggctggcacatcacagca	13	10	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:72470394C>G	ENST00000334805.6	-	3	1159	c.240G>C	c.(238-240)gaG>gaC	p.E80D	STARD10_ENST00000545082.1_Missense_Mutation_p.E51D|STARD10_ENST00000543304.1_Missense_Mutation_p.E80D|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Missense_Mutation_p.E34D|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	80	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CGTAGAGTGTCTCGGCTGGCA	0.542																																																	0													140	140	140					11																	72470394		2166	4262	6428	SO:0001583	missense	10809			AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"StAR-related lipid transfer (START) domain containing"	10666	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 28", "START domain containing 10"	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.240G>C	11.37:g.72470394C>G	ENSP00000335247:p.Glu80Asp		O60532	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E80D	ENST00000334805.6	37	c.240	CCDS41688.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146437	0.77888	.	.	ENSG00000214530	ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989;ENST00000546314;ENST00000539138;ENST00000535054;ENST00000536290	T;T;T;T;T;T;T;T;T;D;T;T	0.84873	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;-1.91;0.81;1.4	5.85	1.78	0.24846	Lipid-binding START (3);START-like domain (1);	0.242658	0.36972	U	0.002318	T	0.73102	0.3544	L	0.37630	1.12	0.42380	D	0.992485	B;B	0.14805	0.009;0.011	B;B	0.17979	0.02;0.01	T	0.62253	-0.6893	10	0.29301	T	0.29	-16.6252	4.1243	0.10119	0.1629:0.5839:0.0:0.2532	.	34;80	F5GY11;Q9Y365	.;PCTL_HUMAN	D	80;80;34;51;11;80;11;80;80;51;34;80	ENSP00000438792:E80D;ENSP00000335247:E80D;ENSP00000440016:E34D;ENSP00000443548:E51D;ENSP00000438357:E11D;ENSP00000445657:E80D;ENSP00000442414:E11D;ENSP00000443597:E80D;ENSP00000445886:E80D;ENSP00000441589:E51D;ENSP00000440924:E34D;ENSP00000443523:E80D	ENSP00000335247:E80D	E	-	3	2	STARD10	72148042	0.998000	0.40836	0.998000	0.56505	0.971000	0.66376	0.688000	0.25422	0.828000	0.34709	0.655000	0.94253	GAG	STARD10	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.542	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STARD10	HGNC	protein_coding	OTTHUMT00000397254.1	C			72470394	-1	no_errors	ENST00000334805	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72470394	C	G	72470394	3	3	154	1	0	0	0	0	1	0	0	0	15285	912	32	1	655	1	STARD10	11	72470394	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	7075362	72470394	62536122	228	27646										
PRKRIR	5612	genome.wustl.edu	37	chr11	76062771	76062771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacaatgaaatcaaaatctgAcactgcactgcagagtacaa	6	9	2	3	rs9666257		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:76062771A>G	ENST00000260045.3	-	5	1528	c.1423T>C	c.(1423-1425)Tca>Cca	p.S475P	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	475					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCAAAATCTGACACTGCACTG	0.363																																																	0													43	45	44					11																	76062771		2195	4291	6486	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1423T>C	11.37:g.76062771A>G	ENSP00000260045:p.Ser475Pro		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S475P	ENST00000260045.3	37	c.1423	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554276	0.27739	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.17213	2.29;2.29	4.99	2.32	0.28847	Ribonuclease H-like (1);	0.480802	0.25686	N	0.028965	T	0.08714	0.0216	N	0.22421	0.69	0.20926	N	0.999829	B	0.29508	0.246	B	0.21917	0.037	T	0.23154	-1.0196	10	0.33141	T	0.24	.	5.1682	0.15096	0.1497:0.1501:0.0:0.7003	.	475	O43422	P52K_HUMAN	P	300;475	ENSP00000436249:S300P;ENSP00000260045:S475P	ENSP00000260045:S475P	S	-	1	0	PRKRIR	75740419	0.970000	0.33590	0.995000	0.50966	0.959000	0.62525	0.964000	0.29306	0.873000	0.35799	-0.305000	0.09177	TCA	PRKRIR	-	superfamily_RNaseH-like_dom		0.363	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	A	NM_004705		76062771	-1	no_errors	ENST00000260045	ensembl	human	known	70_37	missense	SNP	0.978	G	G	76062771	A	G	76062771	3	3	154	1	0	0	0	0	1	0	0	0	12553	275	10	5	866	5	PRKRIR	11	76062771	Missense_Mutation	SNP	A	TCGA-IR-A3LL-01A-11D-A20U-09	3592377	76062771	58943745	229	27647										
RSF1	51773	genome.wustl.edu	37	chr11	77458164	77458164	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgcccaggtactgttaaactCttggcatatctgtcagataa	8	9	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:77458164C>G	ENST00000308488.6	-	3	591	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	RSF1_ENST00000360355.2_Intron			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	97					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTGTTAAACTCTTGGCATATC	0.333																																																	0													100	92	95					11																	77458164		2200	4291	6491	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.289G>C	11.37:g.77458164C>G	ENSP00000311513:p.Glu97Gln		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E97Q	ENST00000308488.6	37	c.289	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791530	0.90367	.	.	ENSG00000048649	ENST00000308488;ENST00000528095	D;T	0.86956	-2.19;1.24	5.66	5.66	0.87406	.	0.112886	0.39544	N	0.001323	D	0.90058	0.6895	L	0.43152	1.355	0.80722	D	1	D	0.63880	0.993	P	0.58013	0.831	D	0.90514	0.4483	10	0.66056	D	0.02	-10.7261	19.3721	0.94492	0.0:1.0:0.0:0.0	.	97	Q96T23	RSF1_HUMAN	Q	97;96	ENSP00000311513:E97Q;ENSP00000436408:E96Q	ENSP00000311513:E97Q	E	-	1	0	RSF1	77135812	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.448000	0.80631	2.671000	0.90904	0.655000	0.94253	GAG	RSF1	-	NULL		0.333	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	C	NM_016578		77458164	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77458164	C	G	77458164	3	3	154	1	0	0	0	0	1	0	0	0	13729	922	32	1	4092	1	RSF1	11	77458164	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1395393	77458164	57548352	230	27648										
PRSS23	11098	genome.wustl.edu	37	chr11	86519256	86519256	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgaaaggaacccagaagcttCgagtgggcttcctaaagccc	11	11	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:86519256C>T	ENST00000280258.5	+	2	996	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PRSS23_ENST00000441050.1_Nonsense_Mutation_p.R159*|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	191						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAGAAGCTTCGAGTGGGCTT	0.552																																																	0													39	41	40					11																	86519256		2201	4299	6500	SO:0001587	stop_gained	11098			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.571C>T	11.37:g.86519256C>T	ENSP00000280258:p.Arg191*		B2RDJ1|B4E2J3|Q6IBI0	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.R191*	ENST00000280258.5	37	c.571	CCDS8278.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535027	0.85812	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	5.82	2.71	0.32032	.	0.059457	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.6947	14.4917	0.67654	0.5037:0.4963:0.0:0.0	.	.	.	.	X	191;159	.	.	R	+	1	2	PRSS23	86196904	0.989000	0.36119	0.396000	0.26296	0.995000	0.86356	1.868000	0.39509	0.766000	0.33244	0.655000	0.94253	CGA	PRSS23	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like		0.552	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS23	HGNC	protein_coding	OTTHUMT00000393805.2	C	NM_007173		86519256	1	no_errors	ENST00000280258	ensembl	human	known	70_37	nonsense	SNP	0.893	T	T	86519256	C	T	86519256	4	4	154	1	0	0	0	0	0	1	0	0	12647	876	31	1	573	1	PRSS23	11	86519256	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	9061092	86519256	48487260	231	27649										
FOLH1B	219595	genome.wustl.edu	37	chr11	89424627	89424627	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tatttcagattcacttttttCtgcagtaaaaaattttacag	4	6	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:89424627C>G	ENST00000532352.1	+	0	1790							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCACTTTTTTCTGCAGTAAAA	0.318																																																	0													60	62	61					11																	89424627		2198	4293	6491			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424627C>G				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-		0.318	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	C	NM_153696		89424627	1	no_errors	ENST00000525540	ensembl	human	known	70_37	rna	SNP	1.000	G	G	89424627	C	G	89424627	1	3	154	0	1	0	0	0	0	0	0	0	5998	913	32	1		1	FOLH1B	11	89424627	RNA	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2905371	89424627	45581889	232	27650										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103041002	103041002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttcttggaagacaagttttaGtctttaattgtgatgaggta	10	3	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:103041002G>T	ENST00000375735.2	+	33	5278	c.5134G>T	c.(5134-5136)Gtc>Ttc	p.V1712F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V1712F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1712	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACAAGTTTTAGTCTTTAATTG	0.333																																																	0													52	50	51					11																	103041002		1814	4081	5895	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5134G>T	11.37:g.103041002G>T	ENSP00000364887:p.Val1712Phe		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V1712F	ENST00000375735.2	37	c.5134	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738229	0.89573	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14640	2.49;2.49	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);	0.000000	0.29383	U	0.012303	T	0.54271	0.1848	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69818	-0.5042	10	0.87932	D	0	.	19.4742	0.94979	0.0:0.0:1.0:0.0	.	1712;1712	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	1712	ENSP00000364887:V1712F;ENSP00000381167:V1712F	ENSP00000364887:V1712F	V	+	1	0	DYNC2H1	102546212	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.014000	0.88676	2.602000	0.87976	0.585000	0.79938	GTC	DYNC2H1	-	smart_AAA+_ATPase		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103041002	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103041002	G	T	103041002	3	4	154	1	0	0	0	0	1	0	0	0	4856	1029	36	4	5264	4	DYNC2H1	11	103041002	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	13616375	103041002	31965514	233	27651										
ATM	472	genome.wustl.edu	37	chr11	108153542	108153542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggctaaatcttcaagatactGaatacaacttatcttctttt	4	8	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:108153542G>A	ENST00000452508.2	+	26	3871	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	ATM_ENST00000278616.4_Missense_Mutation_p.E1228K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1228					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCAAGATACTGAATACAACTT	0.274			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													73	75	74					11																	108153542		2199	4292	6491	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3682G>A	11.37:g.108153542G>A	ENSP00000388058:p.Glu1228Lys		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1228K	ENST00000452508.2	37	c.3682	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	6.125	0.391373	0.11581	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.70631	-0.5;-0.5;-0.5	5.27	4.35	0.52113	Armadillo-type fold (1);	0.404705	0.29328	N	0.012468	T	0.52141	0.1716	N	0.14661	0.345	0.25038	N	0.991229	B	0.02656	0.0	B	0.04013	0.001	T	0.26052	-1.0114	10	0.15952	T	0.53	.	14.2286	0.65875	0.0732:0.0:0.9268:0.0	.	1228	Q13315	ATM_HUMAN	K	1228	ENSP00000435747:E1228K;ENSP00000278616:E1228K;ENSP00000388058:E1228K	ENSP00000278616:E1228K	E	+	1	0	ATM	107658752	1.000000	0.71417	0.843000	0.33291	0.952000	0.60782	4.102000	0.57776	1.211000	0.43351	0.591000	0.81541	GAA	ATM	-	superfamily_ARM-type_fold		0.274	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108153542	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	0.994	A	A	108153542	G	A	108153542	3	1	154	1	0	0	0	0	1	0	0	0	1110	1291	45	1	3776	1	ATM	11	108153542	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5112540	108153542	26852974	234	27652										
ZC3H12C	85463	genome.wustl.edu	37	chr11	110030151	110030151	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actacagggacttggctaatGagaagccagaatggaagaag	13	6	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:110030151G>C	ENST00000278590.3	+	4	1135	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.E363Q|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.E331Q	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	362							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTTGGCTAATGAGAAGCCAGA	0.403																																																	0													62	63	63					11																	110030151		2089	4254	6343	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1084G>C	11.37:g.110030151G>C	ENSP00000278590:p.Glu362Gln		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.E362Q	ENST00000278590.3	37	c.1084	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241079	0.79912	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.46063	0.88;0.88;0.88	5.55	5.55	0.83447	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.79179	-0.1910	10	0.72032	D	0.01	-30.2454	19.8683	0.96840	0.0:0.0:1.0:0.0	.	363;362;362	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Q	362;363;331	ENSP00000278590:E362Q;ENSP00000431821:E363Q;ENSP00000413094:E331Q	ENSP00000278590:E362Q	E	+	1	0	ZC3H12C	109535361	1.000000	0.71417	0.819000	0.32651	0.436000	0.31835	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GAG	ZC3H12C	-	pfam_RNase_Zc3h12		0.403	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110030151	1	no_errors	ENST00000278590	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110030151	G	C	110030151	3	2	154	1	0	0	0	0	1	0	0	0	17593	1291	45	1	1098	1	ZC3H12C	11	110030151	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1876609	110030151	24976365	235	27653										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120350709	120350709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctggtgcaacagctaggtttGactgagaagagcgttcagga	14	7	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:120350709G>A	ENST00000397843.2	+	38	3973	c.3807G>A	c.(3805-3807)ttG>ttA	p.L1269L	ARHGEF12_ENST00000356641.3_Silent_p.L1250L|ARHGEF12_ENST00000532993.1_Silent_p.L1166L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1269					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGCTAGGTTTGACTGAGAAGA	0.463			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													131	120	124					11																	120350709		1869	4100	5969	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3807G>A	11.37:g.120350709G>A			O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1250	ENST00000397843.2	37	c.3750	CCDS41727.1	11																																																																																			ARHGEF12	-	NULL		0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120350709	1	no_errors	ENST00000356641	ensembl	human	known	70_37	silent	SNP	0.352	A	A	120350709	G	A	120350709	2	1	154	1	0	0	0	0	0	0	0	1	897	1281	45	1		1	ARHGEF12	11	120350709	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	10320558	120350709	14655807	236	27654										
GRAMD1B	57476	genome.wustl.edu	37	chr11	123484181	123484181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agagagcgagctggccaaaaCggagagcacttatttggctg	14	8	0	2	rs369825461		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:123484181C>T	ENST00000529750.1	+	15	1940	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.T545M|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.T229M|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.T538M	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	538						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTGGCCAAAACGGAGAGCACT	0.532																																																	0								C	MET/THR	0,4362		0,0,2181	38	42	40		1613	3.6	1	11		40	1,8555		0,1,4277	no	missense	GRAMD1B	NM_020716.1	81	0,1,6458	TT,TC,CC		0.0117,0.0,0.0077	benign	538/739	123484181	1,12917	2181	4278	6459	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1613C>T	11.37:g.123484181C>T	ENSP00000436500:p.Thr538Met		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.T538M	ENST00000529750.1	37	c.1613	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745392	0.30955	0.0	1.17E-4	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.46	3.6	0.41247	.	0.349953	0.30620	N	0.009228	T	0.10252	0.0251	N	0.04508	-0.205	0.31068	N	0.713351	B;B;B;B	0.33494	0.067;0.414;0.04;0.061	B;B;B;B	0.18263	0.011;0.021;0.004;0.007	T	0.07616	-1.0763	10	0.32370	T	0.25	.	11.9303	0.52843	0.0:0.859:0.0:0.141	.	498;229;538;545	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	M	545;545;538;538;498;229	ENSP00000402457:T545M;ENSP00000325628:T538M;ENSP00000436500:T538M;ENSP00000432987:T498M;ENSP00000388458:T229M	ENSP00000325628:T538M	T	+	2	0	GRAMD1B	122989391	0.972000	0.33761	0.965000	0.40720	0.869000	0.49853	2.227000	0.42972	0.695000	0.31675	-0.258000	0.10820	ACG	GRAMD1B	-	NULL		0.532	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	C	XM_370660		123484181	1	no_errors	ENST00000322282	ensembl	human	known	70_37	missense	SNP	0.996	T	T	123484181	C	T	123484181	3	4	154	1	0	0	0	0	1	0	0	0	6768	536	19	2	1671	2	GRAMD1B	11	123484181	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3133472	123484181	11522335	237	27655										
ZNF202	7753	genome.wustl.edu	37	chr11	123601372	123601372	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttgtccgcctctctggtctCagccactggtgacaaagttc	9	13	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:123601372C>T	ENST00000529691.1	-	2	444	c.225G>A	c.(223-225)ctG>ctA	p.L75L	ZNF202_ENST00000530393.1_Silent_p.L75L|ZNF202_ENST00000336139.4_Silent_p.L75L			O95125	ZN202_HUMAN	zinc finger protein 202	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTCTGGTCTCAGCCACTGGT	0.562																																																	0													97	96	96					11																	123601372		2202	4299	6501	SO:0001819	synonymous_variant	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.225G>A	11.37:g.123601372C>T			B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L75	ENST00000529691.1	37	c.225	CCDS8443.1	11																																																																																			ZNF202	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.562	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	C	NM_003455		123601372	-1	no_errors	ENST00000336139	ensembl	human	known	70_37	silent	SNP	0.999	T	T	123601372	C	T	123601372	2	4	154	1	0	0	0	0	0	0	0	1	17793	813	29	1		1	ZNF202	11	123601372	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	117191	123601372	11405144	238	27656										
FAM118B	79607	genome.wustl.edu	37	chr11	126120401	126120401	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttttcaaatccctcctcagCgtaccagtaatgttcgatcc	5	13	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr11:126120401C>T	ENST00000533050.1	+	5	833	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	FAM118B_ENST00000360194.4_Splice_Site_p.R114C|FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000529731.1_Intron	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	114										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CCCTCCTCAGCGTACCAGTAA	0.343																																																	0													78	78	78					11																	126120401		2201	4299	6500	SO:0001630	splice_region_variant	79607			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.340-1C>T	11.37:g.126120401C>T			Q9H7B0	Missense_Mutation	SNP	NULL	p.R114C	ENST00000533050.1	37	c.340	CCDS8470.1	11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028341	0.75390	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000360194;ENST00000530043	T;T;T;T	0.57907	1.19;1.2;1.2;0.37	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.60000	-0.7348	9	.	.	.	-28.9724	17.0867	0.86612	0.1279:0.8721:0.0:0.0	.	114;114	E9PMJ2;Q9BPY3	.;F118B_HUMAN	C	114	ENSP00000433343:R114C;ENSP00000434952:R114C;ENSP00000353321:R114C;ENSP00000437285:R114C	.	R	+	1	0	FAM118B	125625611	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.400000	0.44504	1.610000	0.50200	0.655000	0.94253	CGT	FAM118B	-	NULL		0.343	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM118B	HGNC	protein_coding	OTTHUMT00000386346.1	C	NM_024556	Missense_Mutation	126120401	1	no_errors	ENST00000533050	ensembl	human	known	70_37	missense	SNP	1.000	T	T	126120401	C	T	126120401	5	4	154	1	0	0	0	0	0	0	1	0	5427	782	27	2	350	2	FAM118B	11	126120401	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2519029	126120401	8886115	239	27657										
EFCAB4B	84766	genome.wustl.edu	37	chr12	3757688	3757688	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gggaggtgctctcagcacagGccagtgcccaccgacgcacc	13	16	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:3757688G>C	ENST00000252322.1	-	11	1606	c.1138C>G	c.(1138-1140)Cct>Gct	p.P380A	EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		380					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTCAGCACAGGCCAGTGCCCA	0.607																																																	0													68	60	62					12																	3757688		2203	4300	6503	SO:0001583	missense	84766																														ENST00000252322.1:c.1138C>G	12.37:g.3757688G>C	ENSP00000252322:p.Pro380Ala		B4E1X0|B9EK63	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.P380A	ENST00000252322.1	37	c.1138	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	g	0.917	-0.717295	0.03182	.	.	ENSG00000130038	ENST00000252322	T	0.17691	2.26	2.34	-3.49	0.04724	.	4.384240	0.00953	N	0.002981	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	10	0.87932	D	0	.	0.0968	0.00045	0.3137:0.232:0.2252:0.2291	.	380	Q9BSW2	EFC4B_HUMAN	A	380	ENSP00000252322:P380A	ENSP00000252322:P380A	P	-	1	0	EFCAB4B	3627949	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.292000	0.19011	-0.891000	0.03940	-0.513000	0.04457	CCT	EFCAB4B	-	NULL		0.607	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	G			3757688	-1	no_errors	ENST00000252322	ensembl	human	known	70_37	missense	SNP	0.000	C	C	3757688	G	C	3757688	3	2	154	1	0	0	0	0	1	0	0	0	4947	1203	42	4	1289	4	EFCAB4B	12	3757688	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		3757688	130094207	240	27658										
ANO2	57101	genome.wustl.edu	37	chr12	5908678	5908678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctaccacctcttacctgatGaggtcaataggttggaactt	8	11	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:5908678G>A	ENST00000356134.5	-	11	1112	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	ANO2_ENST00000327087.8_Silent_p.L346L|ANO2_ENST00000546188.1_Silent_p.L347L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	351					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTTACCTGATGAGGTCAATAG	0.413																																																	0													81	76	77					12																	5908678		1883	4109	5992	SO:0001819	synonymous_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1041C>T	12.37:g.5908678G>A			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.L347	ENST00000356134.5	37	c.1041		12																																																																																			ANO2	-	NULL		0.413	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	G	NM_020373		5908678	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5908678	G	A	5908678	2	1	154	1	0	0	0	0	0	0	0	1	697	1277	45	1		1	ANO2	12	5908678	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2150990	5908678	127943217	241	27659										
CSDA	8531	genome.wustl.edu	37	chr12	10854632	10854632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtagggacgccggtatccaCggcgaacagacggctggttt	15	10	0	1	rs140201332		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:10854632C>A	ENST00000228251.4	-	8	1180	c.980G>T	c.(979-981)cGt>cTt	p.R327L	YBX3_ENST00000279550.7_Missense_Mutation_p.R258L|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	327					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										CCGGTATCCACGGCGAACAGA	0.582																																																	0													153	139	144					12																	10854632		2203	4300	6503	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.980G>T	12.37:g.10854632C>A	ENSP00000228251:p.Arg327Leu		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.R327L	ENST00000228251.4	37	c.980	CCDS8630.1	12	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515307	0.64634	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.35048	1.4;1.33	4.88	3.98	0.46160	.	0.078689	0.56097	D	0.000036	T	0.40094	0.1103	M	0.64997	1.995	0.46113	D	0.998879	P;P	0.51449	0.932;0.945	P;B	0.45971	0.499;0.387	T	0.35773	-0.9775	10	0.66056	D	0.02	.	10.823	0.46617	0.0:0.9058:0.0:0.0942	.	258;327	P16989-2;P16989	.;DBPA_HUMAN	L	258;327	ENSP00000279550:R258L;ENSP00000228251:R327L	ENSP00000228251:R327L	R	-	2	0	CSDA	10745899	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.872000	0.63050	1.034000	0.39945	0.655000	0.94253	CGT	CSDA	-	NULL		0.582	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSDA	HGNC	protein_coding	OTTHUMT00000399628.1	C	NM_003651		10854632	-1	no_errors	ENST00000228251	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10854632	C	A	10854632	3	1	154	1	0	0	0	0	1	0	0	0	3932	536	19	2	146	2	CSDA	12	10854632	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4945954	10854632	122997263	242	27660										
WBP11	51729	genome.wustl.edu	37	chr12	14940418	14940418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgggcgcatcatgccaggacGaggtggaggaatacctaaat	14	8	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:14940418G>A	ENST00000261167.2	-	12	1740	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	503	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ATGCCAGGACGAGGTGGAGGA	0.463																																																	0													42	47	46					12																	14940418		2203	4300	6503	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1507C>T	12.37:g.14940418G>A	ENSP00000261167:p.Arg503Cys		Q96AY8	Missense_Mutation	SNP	pfam_WW_dom-bd_prot_11	p.R503C	ENST00000261167.2	37	c.1507	CCDS8666.1	12	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068793	0.55539	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.89939	-2.59	5.2	5.2	0.72013	.	0.384961	0.28908	N	0.013748	T	0.80974	0.4727	N	0.08118	0	0.54753	D	0.999984	D	0.69078	0.997	B	0.44315	0.446	D	0.84926	0.0857	10	0.59425	D	0.04	-3.3231	16.2797	0.82670	0.0:0.0:1.0:0.0	.	503	Q9Y2W2	WBP11_HUMAN	C	503;469	ENSP00000442868:R469C	ENSP00000261167:R503C	R	-	1	0	WBP11	14831685	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.229000	0.89791	2.717000	0.92951	0.655000	0.94253	CGT	WBP11	-	NULL		0.463	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP11	HGNC	protein_coding	OTTHUMT00000400850.1	G	NM_016312		14940418	-1	no_errors	ENST00000261167	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14940418	G	A	14940418	3	1	154	1	0	0	0	0	1	0	0	0	17289	1058	37	1	422	1	WBP11	12	14940418	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4085786	14940418	118911477	243	27661										
ART4	420	genome.wustl.edu	37	chr12	14993819	14993819	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggcaacagaggccatggctCtagtaaagtcagaatgaaca	11	8	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:14993819C>G	ENST00000228936.4	-	2	794	c.413G>C	c.(412-414)aGa>aCa	p.R138T	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	138					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GGCCATGGCTCTAGTAAAGTC	0.438																																																	0													134	131	132					12																	14993819		2203	4300	6503	SO:0001583	missense	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.413G>C	12.37:g.14993819C>G	ENSP00000228936:p.Arg138Thr		Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	pfam_ART,prints_ART	p.R138T	ENST00000228936.4	37	c.413	CCDS8668.1	12	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.509573	0.00984	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.08008	3.14;3.14	4.35	-3.62	0.04543	.	1.346560	0.04235	N	0.335933	T	0.09949	0.0244	L	0.46157	1.445	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.22152	0.038;0.038	T	0.40664	-0.9551	10	0.28530	T	0.3	-11.1506	12.8299	0.57740	0.0:0.2167:0.0:0.7833	.	138;138	A8K6J7;Q93070	.;NAR4_HUMAN	T	138;121	ENSP00000228936:R138T;ENSP00000405689:R121T	ENSP00000228936:R138T	R	-	2	0	ART4	14885086	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.589000	0.05767	-0.781000	0.04548	-0.253000	0.11424	AGA	ART4	-	pfam_ART		0.438	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	C	NM_021071		14993819	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	missense	SNP	0.000	G	G	14993819	C	G	14993819	3	3	154	1	0	0	0	0	1	0	0	0	1000	913	32	1	539	1	ART4	12	14993819	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	53401	14993819	118858076	244	27662										
OVCH1	341350	genome.wustl.edu	37	chr12	29631791	29631791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaagcactccactgcttgatCgtaaagatacatagtcatga	7	9	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:29631791C>T	ENST00000318184.5	-	9	1045	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	349	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R349Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTGCTTGATCGTAAAGATAC	0.303																																																	1	Substitution - Missense(1)	NS(1)											103	94	97					12																	29631791		1835	4080	5915	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1046G>A	12.37:g.29631791C>T	ENSP00000326708:p.Arg349Gln			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R349Q	ENST00000318184.5	37	c.1046		12	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.161140	0.01673	.	.	ENSG00000187950	ENST00000318184	T	0.21191	2.02	3.04	-0.811	0.10857	CUB (3);	.	.	.	.	T	0.07279	0.0184	N	0.03608	-0.345	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	9	0.20519	T	0.43	.	4.9005	0.13771	0.0:0.1063:0.3668:0.5269	.	349	Q7RTY7	OVCH1_HUMAN	Q	349	ENSP00000326708:R349Q	ENSP00000326708:R349Q	R	-	2	0	OVCH1	29523058	0.996000	0.38824	0.893000	0.35052	0.088000	0.18126	0.341000	0.19909	-0.164000	0.10927	-2.289000	0.00267	CGA	OVCH1	-	superfamily_CUB,pfscan_CUB		0.303	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	C	NM_183378		29631791	-1	no_errors	ENST00000318184	ensembl	human	known	70_37	missense	SNP	0.959	T	T	29631791	C	T	29631791	3	4	154	1	0	0	0	0	1	0	0	0	11347	884	31	1	2438	1	OVCH1	12	29631791	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	14637972	29631791	104220104	245	27663										
CAPRIN2	65981	genome.wustl.edu	37	chr12	30863277	30863277	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtactggcagtatggtggcTgctggatttgtcactggcac	14	8	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:30863277T>A	ENST00000298892.5	-	17	3543	c.2793A>T	c.(2791-2793)gcA>gcT	p.A931A	CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000251071.5_Silent_p.A981A|CAPRIN2_ENST00000417045.1_3'UTR|CAPRIN2_ENST00000308433.5_Silent_p.A647A	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTATGGTGGCTGCTGGATTTG	0.542																																																	0													193	195	195					12																	30863277		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2793A>T	12.37:g.30863277T>A				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.A981	ENST00000298892.5	37	c.2943	CCDS8720.1	12																																																																																			CAPRIN2	-	NULL		0.542	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000402778.1	T	NM_023925		30863277	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.972	A	A	30863277	T	A	30863277	2	1	154	1	0	0	0	0	0	0	0	1	2641	1567	55	5		5	CAPRIN2	12	30863277	Silent	SNP	T	TCGA-IR-A3LL-01A-11D-A20U-09	1231486	30863277	102988618	246	27664										
MLL2	8085	genome.wustl.edu	37	chr12	49434544	49434544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgggctctggggctctacctGagatgcccgaggggtcaggg	18	11	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49434544G>C	ENST00000301067.7	-	31	7008	c.7009C>G	c.(7009-7011)Cag>Gag	p.Q2337E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2337	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCTCTACCTGAGATGCCCGA	0.627																																																	0													19	22	21					12																	49434544		1838	4075	5913	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7009C>G	12.37:g.49434544G>C	ENSP00000301067:p.Gln2337Glu		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2337E	ENST00000301067.7	37	c.7009	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885709	0.33255	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	5.07	5.07	0.68467	.	0.000000	0.36409	N	0.002604	D	0.83046	0.5169	L	0.43152	1.355	0.46823	D	0.999213	D	0.67145	0.996	P	0.54499	0.754	D	0.85287	0.1065	10	0.87932	D	0	.	17.611	0.88053	0.0:0.0:1.0:0.0	.	2337	O14686	MLL2_HUMAN	E	2337	ENSP00000301067:Q2337E	ENSP00000301067:Q2337E	Q	-	1	0	MLL2	47720811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.603000	0.54074	2.536000	0.85505	0.655000	0.94253	CAG	MLL2	-	NULL		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49434544	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49434544	G	C	49434544	3	2	154	1	0	0	0	0	1	0	0	0	9644	1299	45	1	9700	1	MLL2	12	49434544	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	18571267	49434544	84417351	247	27665			1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49434618	49434618	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggccacccaggtgggtgcctGaggagggtgagtcaacaaag	17	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49434618G>C	ENST00000301067.7	-	31	6934	c.6935C>G	c.(6934-6936)tCa>tGa	p.S2312*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2312	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGGTGCCTGAGGAGGGTGA	0.617																																																	0													23	26	25					12																	49434618		1852	4094	5946	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6935C>G	12.37:g.49434618G>C	ENSP00000301067:p.Ser2312*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2312*	ENST00000301067.7	37	c.6935	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.322416	0.99657	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.07	4.13	0.48395	.	0.279394	0.19474	N	0.113377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.2569	0.37588	0.0:0.1543:0.6872:0.1584	.	.	.	.	X	2312	.	ENSP00000301067:S2312X	S	-	2	0	MLL2	47720885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.197000	0.51028	2.536000	0.85505	0.655000	0.94253	TCA	MLL2	-	NULL		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49434618	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	49434618	G	C	49434618	4	2	154	1	0	0	0	0	0	1	0	0	9644	1294	45	1	9774	1	MLL2	12	49434618	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	74	49434618	84417277	248	27666			1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49435470	49435470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gttgatgcggtgagctgcccGgttatctttggccttttgct	13	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49435470G>A	ENST00000301067.7	-	30	6201	c.6202C>T	c.(6202-6204)Cgg>Tgg	p.R2068W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2068					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGAGCTGCCCGGTTATCTTTG	0.582																																																	0													65	70	69					12																	49435470		2039	4190	6229	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6202C>T	12.37:g.49435470G>A	ENSP00000301067:p.Arg2068Trp		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R2068W	ENST00000301067.7	37	c.6202	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	9.879	1.200969	0.22121	.	.	ENSG00000167548	ENST00000301067	D	0.94457	-3.43	4.94	4.04	0.47022	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	0.230369	0.22435	N	0.060085	D	0.96886	0.8983	M	0.78344	2.41	0.49915	D	0.999833	D	0.89917	1.0	D	0.91635	0.999	D	0.97303	0.9932	10	0.87932	D	0	.	14.2147	0.65786	0.0:0.0:0.8486:0.1514	.	2068	O14686	MLL2_HUMAN	W	2068	ENSP00000301067:R2068W	ENSP00000301067:R2068W	R	-	1	2	MLL2	47721737	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.383000	0.52471	1.383000	0.46405	0.561000	0.74099	CGG	MLL2	-	superfamily_HMG_superfamily,smart_HMG_superfamily		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49435470	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49435470	G	A	49435470	3	1	154	1	0	0	0	0	1	0	0	0	9644	1115	39	2	10511	2	MLL2	12	49435470	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	852	49435470	84416425	249	27667			1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49438611	49438611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atctgagggctcagaaccctCcaatcctgcctcgcctggga	10	15	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49438611C>T	ENST00000301067.7	-	19	4878	c.4879G>A	c.(4879-4881)Gag>Aag	p.E1627K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1627					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCAGAACCCTCCAATCCTGCC	0.602																																																	0													81	88	86					12																	49438611		2084	4209	6293	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4879G>A	12.37:g.49438611C>T	ENSP00000301067:p.Glu1627Lys		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1627K	ENST00000301067.7	37	c.4879	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432509	0.62844	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.81	5.81	0.92471	.	0.000000	0.36854	N	0.002374	T	0.67078	0.2855	N	0.22421	0.69	0.48341	D	0.999631	P	0.38922	0.651	B	0.32677	0.15	T	0.72218	-0.4357	10	0.87932	D	0	.	18.854	0.92244	0.0:1.0:0.0:0.0	.	1627	O14686	MLL2_HUMAN	K	1627	ENSP00000301067:E1627K	ENSP00000301067:E1627K	E	-	1	0	MLL2	47724878	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	6.540000	0.73861	2.746000	0.94184	0.655000	0.94253	GAG	MLL2	-	NULL		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49438611	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49438611	C	T	49438611	3	4	154	1	0	0	0	0	1	0	0	0	9644	864	30	1	11878	1	MLL2	12	49438611	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3141	49438611	84413284	250	27668			1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49440150	49440150	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccacagtgtgtgtaactattCtgccattcacagtggaagcc	9	11	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49440150C>T	ENST00000301067.7	-	16	4475	c.4476G>A	c.(4474-4476)caG>caA	p.Q1492Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1492	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGTAACTATTCTGCCATTCAC	0.547																																																	0													98	108	105					12																	49440150		2138	4245	6383	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4476G>A	12.37:g.49440150C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1492	ENST00000301067.7	37	c.4476	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49440150	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49440150	C	T	49440150	2	4	154	1	0	0	0	0	0	0	0	1	9644	912	32	1		1	MLL2	12	49440150	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1539	49440150	84411745	251	27669			1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49442510	49442510	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgcatggtgtcatcatcttCttcctcctcctccttactgg	6	15	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49442510C>T	ENST00000301067.7	-	13	4062	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1355	Poly-Glu.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCATCATCTTCTTCCTCCTCC	0.478																																																	0													250	251	251					12																	49442510		2046	4187	6233	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4063G>A	12.37:g.49442510C>T	ENSP00000301067:p.Glu1355Lys		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1355K	ENST00000301067.7	37	c.4063	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287255	0.59867	.	.	ENSG00000167548	ENST00000301067	D	0.81579	-1.51	5.92	5.92	0.95590	Zinc finger, FYVE/PHD-type (1);	0.495843	0.15002	N	0.286070	T	0.74839	0.3769	L	0.38175	1.15	0.80722	D	1	P	0.34562	0.457	B	0.27608	0.081	T	0.75436	-0.3318	10	0.87932	D	0	.	19.0866	0.93204	0.0:1.0:0.0:0.0	.	1355	O14686	MLL2_HUMAN	K	1355	ENSP00000301067:E1355K	ENSP00000301067:E1355K	E	-	1	0	MLL2	47728777	0.995000	0.38212	0.747000	0.31113	0.778000	0.44026	3.279000	0.51670	2.809000	0.96659	0.467000	0.42956	GAA	MLL2	-	superfamily_Znf_FYVE_PHD		0.478	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49442510	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49442510	C	T	49442510	3	4	154	1	0	0	0	0	1	0	0	0	9644	922	32	1	12718	1	MLL2	12	49442510	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2360	49442510	84409385	252	27670			1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49442540	49442540	+	Missense_Mutation	SNP	C	C	G													0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctccttactgggagagctatCaatgtcagcaacctgatggg							TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49442540C>G	ENST00000301067.7	-	13	4032	c.4033G>C	c.(4033-4035)Gat>Cat	p.D1345H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1345					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAGAGCTATCAATGTCAGCA	0.473																																																	0													179	177	178					12																	49442540		2028	4180	6208	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4033G>C	12.37:g.49442540C>G	ENSP00000301067:p.Asp1345His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D1345H	ENST00000301067.7	37	c.4033	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601685	0.28534	.	.	ENSG00000167548	ENST00000301067	T	0.81163	-1.46	5.92	5.92	0.95590	Zinc finger, FYVE/PHD-type (1);	0.000000	0.36628	N	0.002484	D	0.84361	0.5455	L	0.32530	0.975	0.42490	D	0.992893	D	0.67145	0.996	P	0.61800	0.894	D	0.85678	0.1299	10	0.87932	D	0	.	19.0866	0.93204	0.0:1.0:0.0:0.0	.	1345	O14686	MLL2_HUMAN	H	1345	ENSP00000301067:D1345H	ENSP00000301067:D1345H	D	-	1	0	MLL2	47728807	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.195000	0.65131	2.809000	0.96659	0.467000	0.42956	GAT	MLL2	-	superfamily_Znf_FYVE_PHD		0.473	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49442540	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.999	G	G	49442540	C	G	49442540	3	3	154	1	0	0	0	0	1	0	0	0	9644	826	29	1	12748	1	MLL2	12	49442540	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	30	49442540	84409355	253	27671	167	2	1	117		8	7	8003	N	G_C	2.097793e-09
MLL2	8085	genome.wustl.edu	37	chr12	49442546	49442546	+	Missense_Mutation	SNP	C	C	T													0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actgggagagctatcaatgtCagcaacctgatgggcagaga							TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:49442546C>T	ENST00000301067.7	-	13	4026	c.4027G>A	c.(4027-4029)Gac>Aac	p.D1343N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1343					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTATCAATGTCAGCAACCTGA	0.473																																																	0													168	166	167					12																	49442546		2025	4175	6200	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4027G>A	12.37:g.49442546C>T	ENSP00000301067:p.Asp1343Asn		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D1343N	ENST00000301067.7	37	c.4027	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525845	0.44969	.	.	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.92	5.92	0.95590	Zinc finger, FYVE/PHD-type (1);	0.000000	0.36665	N	0.002479	T	0.78489	0.4291	N	0.14661	0.345	0.34175	D	0.670215	D	0.67145	0.996	P	0.60012	0.867	D	0.84560	0.0649	10	0.87932	D	0	.	19.0866	0.93204	0.0:1.0:0.0:0.0	.	1343	O14686	MLL2_HUMAN	N	1343	ENSP00000301067:D1343N	ENSP00000301067:D1343N	D	-	1	0	MLL2	47728813	0.943000	0.32029	1.000000	0.80357	0.788000	0.44548	1.826000	0.39092	2.809000	0.96659	0.467000	0.42956	GAC	MLL2	-	superfamily_Znf_FYVE_PHD		0.473	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49442546	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49442546	C	T	49442546	3	4	154	1	0	0	0	0	1	0	0	0	9644	826	29	1	12754	1	MLL2	12	49442546	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6	49442546	84409349	254	27672	167	2	1	117		8	7	8003	N	G_C	2.097793e-09
ACVR1B	91	genome.wustl.edu	37	chr12	52387888	52387888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcgtgcaggaagacgtgaaGatctaactgctccctctctc	10	12	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:52387888G>A	ENST00000257963.4	+	9	1589	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	ACVR1B_ENST00000542485.1_Silent_p.K452K|ACVR1B_ENST00000541224.1_Silent_p.K545K	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	504					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AAGACGTGAAGATCTAACTGC	0.607																																																	0													152	126	135					12																	52387888		2203	4300	6503	SO:0001819	synonymous_variant	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1512G>A	12.37:g.52387888G>A			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K504	ENST00000257963.4	37	c.1512	CCDS8816.1	12																																																																																			ACVR1B	-	NULL		0.607	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	G	NM_020328		52387888	1	no_errors	ENST00000257963	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52387888	G	A	52387888	2	1	154	1	0	0	0	0	0	0	0	1	221	933	33	1		1	ACVR1B	12	52387888	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2945342	52387888	81464007	255	27673										
HOXC12	3228	genome.wustl.edu	37	chr12	54348984	54348984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agctggcgcgcgtggaggacGgcaagggttactaccgcgag	18	10	0	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:54348984G>A	ENST00000243103.3	+	1	367	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	91					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CGTGGAGGACGGCAAGGGTTA	0.751																																																	0													10	10	10					12																	54348984		2125	4202	6327	SO:0001583	missense	3228			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.271G>A	12.37:g.54348984G>A	ENSP00000243103:p.Gly91Ser		Q9BXJ6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G91S	ENST00000243103.3	37	c.271	CCDS8866.1	12	.	.	.	.	.	.	.	.	.	.	g	2.868	-0.234541	0.05983	.	.	ENSG00000123407	ENST00000243103	D	0.91996	-2.95	2.85	0.48	0.16804	.	0.140060	0.49305	N	0.000157	T	0.73776	0.3630	N	0.03891	-0.335	0.24342	N	0.994958	B	0.12630	0.006	B	0.06405	0.002	T	0.63207	-0.6689	10	0.02654	T	1	.	6.8576	0.24050	0.7784:0.0:0.2216:0.0	.	91	P31275	HXC12_HUMAN	S	91	ENSP00000243103:G91S	ENSP00000243103:G91S	G	+	1	0	HOXC12	52635251	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.376000	0.52417	0.081000	0.16988	-0.611000	0.04053	GGC	HOXC12	-	NULL		0.751	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2	G	NM_173860		54348984	1	no_errors	ENST00000243103	ensembl	human	known	70_37	missense	SNP	0.998	A	A	54348984	G	A	54348984	3	1	154	1	0	0	0	0	1	0	0	0	7331	1116	39	2	273	2	HOXC12	12	54348984	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1961096	54348984	79502911	256	27674										
SMARCC2	6601	genome.wustl.edu	37	chr12	56559231	56559231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agaagggcccaaacttcctgGaggggccccactgccagcag	13	14	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:56559231G>C	ENST00000267064.4	-	26	3096	c.3010C>G	c.(3010-3012)Cca>Gca	p.P1004A	SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1035A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P1035A|SMARCC2_ENST00000394023.3_Missense_Mutation_p.P1035A	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1004	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAACTTCCTGGAGGGGCCCCA	0.672																																																	0													16	17	17					12																	56559231		2196	4283	6479	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3010C>G	12.37:g.56559231G>C	ENSP00000267064:p.Pro1004Ala		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.P1004A	ENST00000267064.4	37	c.3010	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575330	0.45902	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.52754	1.1;0.65;0.74;0.7	4.34	4.34	0.51931	.	0.000000	0.43919	D	0.000515	T	0.45175	0.1329	N	0.08118	0	0.49687	D	0.99981	D;D;D;D;D	0.60575	0.98;0.988;0.98;0.98;0.988	D;D;D;D;D	0.73708	0.956;0.981;0.956;0.956;0.981	T	0.35649	-0.9780	10	0.18276	T	0.48	-7.1359	14.2998	0.66339	0.0:0.0:1.0:0.0	.	924;1035;1039;1004;1035	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	A	1035;1035;1035;1004	ENSP00000377591:P1035A;ENSP00000449396:P1035A;ENSP00000302919:P1035A;ENSP00000267064:P1004A	ENSP00000267064:P1004A	P	-	1	0	SMARCC2	54845498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.926000	0.56491	2.451000	0.82905	0.650000	0.86243	CCA	SMARCC2	-	NULL		0.672	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	G			56559231	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56559231	G	C	56559231	3	2	154	1	0	0	0	0	1	0	0	0	14806	1174	41	1	646	1	SMARCC2	12	56559231	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2210247	56559231	77292664	257	27675										
SMARCC2	6601	genome.wustl.edu	37	chr12	56559333	56559333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccctgttggggggataggctGggagcctgggggcagggctg	22	8	0	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:56559333G>A	ENST00000267064.4	-	26	2994	c.2908C>T	c.(2908-2910)Cag>Tag	p.Q970*	SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.Q1001*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.Q1001*|SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.Q1001*	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	970	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGATAGGCTGGGAGCCTGGG	0.667																																																	0													26	32	30					12																	56559333		2202	4294	6496	SO:0001587	stop_gained	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2908C>T	12.37:g.56559333G>A	ENSP00000267064:p.Gln970*		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.Q970*	ENST00000267064.4	37	c.2908	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.370616	0.98241	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.21	4.21	0.49690	.	0.510762	0.18614	N	0.136069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.0226	15.91	0.79467	0.0:0.0:1.0:0.0	.	.	.	.	X	1001;1001;1001;970	.	ENSP00000267064:Q970X	Q	-	1	0	SMARCC2	54845600	0.988000	0.35896	1.000000	0.80357	0.899000	0.52679	0.923000	0.28757	2.381000	0.81170	0.555000	0.69702	CAG	SMARCC2	-	NULL		0.667	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	G			56559333	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	56559333	G	A	56559333	4	1	154	1	0	0	0	0	0	1	0	0	14806	1357	47	4	748	4	SMARCC2	12	56559333	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	102	56559333	77292562	258	27676										
ZFC3H1	196441	genome.wustl.edu	37	chr12	72021566	72021566	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagtacttgtacgcaagcttGagccaaagttgtacatgaga	10	7	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:72021566G>C	ENST00000378743.3	-	21	4453	c.4095C>G	c.(4093-4095)ctC>ctG	p.L1365L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1365					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACGCAAGCTTGAGCCAAAGTT	0.353																																																	0													134	122	126					12																	72021566		1876	4111	5987	SO:0001819	synonymous_variant	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4095C>G	12.37:g.72021566G>C			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.L1365	ENST00000378743.3	37	c.4095	CCDS41813.1	12																																																																																			ZFC3H1	-	pfscan_TPR-contain_dom		0.353	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72021566	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	silent	SNP	1.000	C	C	72021566	G	C	72021566	2	2	154	1	0	0	0	0	0	0	0	1	17663	1277	45	1		1	ZFC3H1	12	72021566	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	15462233	72021566	61830329	259	27677										
TRHDE	29953	genome.wustl.edu	37	chr12	73046213	73046213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tccaccacagcagtttctgaGaagaaaatattattggaagc	8	8	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:73046213G>A	ENST00000261180.4	+	16	2748	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	884					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGTTTCTGAGAAGAAAATAT	0.373																																																	0													87	87	87					12																	73046213		2203	4300	6503	SO:0001819	synonymous_variant	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2652G>A	12.37:g.73046213G>A			A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E884	ENST00000261180.4	37	c.2652	CCDS9004.1	12																																																																																			TRHDE	-	NULL		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	G	NM_013381		73046213	1	no_errors	ENST00000261180	ensembl	human	known	70_37	silent	SNP	0.999	A	A	73046213	G	A	73046213	2	1	154	1	0	0	0	0	0	0	0	1	16510	933	33	1		1	TRHDE	12	73046213	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1024647	73046213	60805682	260	27678										
KITLG	4254	genome.wustl.edu	37	chr12	88910219	88910219	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaaaattctaaagaattcttCaggagtaaagagcctgggtt	9	5	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:88910219C>T	ENST00000228280.5	-	5	594	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_Missense_Mutation_p.E138K|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	138					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AAGAATTCTTCAGGAGTAAAG	0.343									Testicular Cancer, Familial Clustering of																																								0													44	50	48					12																	88910219		2199	4293	6492	SO:0001583	missense	4254	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.412G>A	12.37:g.88910219C>T	ENSP00000228280:p.Glu138Lys		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.E138K	ENST00000228280.5	37	c.412	CCDS31868.1	12	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463785	0.63513	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.71341	-0.56;-0.56	4.96	4.06	0.47325	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.428560	0.26623	N	0.023345	T	0.54695	0.1874	L	0.41710	1.295	0.39472	D	0.967737	P;P	0.37207	0.532;0.587	B;B	0.28784	0.057;0.094	T	0.57260	-0.7842	10	0.28530	T	0.3	-8.2727	10.7015	0.45931	0.0:0.9092:0.0:0.0907	.	138;138	P21583-2;P21583	.;SCF_HUMAN	K	103;138;138	ENSP00000228280:E138K;ENSP00000054216:E138K	ENSP00000228280:E138K	E	-	1	0	KITLG	87434350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.029000	0.49712	2.285000	0.76669	0.591000	0.81541	GAA	KITLG	-	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF		0.343	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	C	NM_003994		88910219	-1	no_errors	ENST00000228280	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88910219	C	T	88910219	3	4	154	1	0	0	0	0	1	0	0	0	8350	835	29	1	429	1	KITLG	12	88910219	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	15864006	88910219	44941676	261	27679										
GALNT4	8693	genome.wustl.edu	37	chr12	89917415	89917415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccagccatggtaggtgatctGatggggtcaattcttgatat	12	7	3	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:89917415G>C	ENST00000529983.2	-	1	1168	c.912C>G	c.(910-912)atC>atG	p.I304M	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.I132M|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.I301M	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	304	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TAGGTGATCTGATGGGGTCAA	0.483																																																	0													110	109	109					12																	89917415		1950	4151	6101	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.912C>G	12.37:g.89917415G>C	ENSP00000436604:p.Ile304Met		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I304M	ENST00000529983.2	37	c.912	CCDS53817.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957467	0.73902	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.83673	0.03;-1.75;0.03	5.72	5.72	0.89469	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.92328	0.7566	M	0.89287	3.02	0.54753	D	0.999987	P;P	0.50710	0.917;0.938	P;D	0.63703	0.865;0.917	D	0.92741	0.6208	9	0.59425	D	0.04	.	18.8611	0.92271	0.0:0.0:1.0:0.0	.	301;304	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	M	301;132;304	ENSP00000447852:I301M;ENSP00000389686:I132M;ENSP00000436604:I304M	ENSP00000436604:I304M	I	-	3	3	GALNT4;RP11-1109F11.4	88441546	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.251000	0.51453	2.699000	0.92147	0.561000	0.74099	ATC	GALNT4	-	pfam_Glyco_trans_2		0.483	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT4	HGNC	protein_coding	OTTHUMT00000388973.2	G	NM_003774		89917415	-1	no_errors	ENST00000529983	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89917415	G	C	89917415	3	2	154	1	0	0	0	0	1	0	0	0	6234	1280	45	1	828	1	GALNT4	12	89917415	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1007196	89917415	43934480	262	27680										
ANO4	121601	genome.wustl.edu	37	chr12	101493441	101493441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtttcccacaatgggaaaagGactataaccttcagccgatg	9	10	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:101493441G>A	ENST00000392977.3	+	22	2302	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	ANO4_ENST00000550015.1_Missense_Mutation_p.D218N|ANO4_ENST00000392979.3_Missense_Mutation_p.D663N|ANO4_ENST00000299222.9_Missense_Mutation_p.D218N			Q32M45	ANO4_HUMAN	anoctamin 4	698					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGGGAAAAGGACTATAACCT	0.343										HNSCC(74;0.22)																																							0													98	98	98					12																	101493441		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2092G>A	12.37:g.101493441G>A	ENSP00000376703:p.Asp698Asn		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.D698N	ENST00000392977.3	37	c.2092		12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641880	0.87859	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.77797	-0.2453	10	0.49607	T	0.09	.	20.0432	0.97601	0.0:0.0:1.0:0.0	.	218;698;663	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	N	663;218;698;218	ENSP00000376705:D663N;ENSP00000299222:D218N;ENSP00000376703:D698N;ENSP00000450192:D218N	ENSP00000299222:D218N	D	+	1	0	ANO4	100017572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.740000	0.93945	0.650000	0.86243	GAC	ANO4	-	pfam_Anoctamin		0.343	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	G	NM_178826		101493441	1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101493441	G	A	101493441	3	1	154	1	0	0	0	0	1	0	0	0	699	1174	41	1	2065	1	ANO4	12	101493441	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	11576026	101493441	32358454	263	27681										
UTP20	27340	genome.wustl.edu	37	chr12	101769493	101769493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tatcaaggaatgtaatattaTtcagtttaccaaacccgctg	6	8	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:101769493T>G	ENST00000261637.4	+	56	7529	c.7355T>G	c.(7354-7356)aTt>aGt	p.I2452S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2452			I -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGTAATATTATTCAGTTTACC	0.308																																																	0													66	65	65					12																	101769493		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7355T>G	12.37:g.101769493T>G	ENSP00000261637:p.Ile2452Ser		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.I2452S	ENST00000261637.4	37	c.7355	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574167	0.28092	.	.	ENSG00000120800	ENST00000261637	T	0.65732	-0.17	5.33	5.33	0.75918	Armadillo-type fold (1);	0.346678	0.31210	N	0.008047	T	0.53578	0.1805	L	0.60455	1.87	0.39667	D	0.970703	B	0.25235	0.121	B	0.18263	0.021	T	0.51857	-0.8652	10	0.19590	T	0.45	-2.7595	9.7797	0.40640	0.0:0.077:0.0:0.923	.	2452	O75691	UTP20_HUMAN	S	2452	ENSP00000261637:I2452S	ENSP00000261637:I2452S	I	+	2	0	UTP20	100293624	0.991000	0.36638	0.969000	0.41365	0.366000	0.29705	3.847000	0.55895	2.019000	0.59389	0.459000	0.35465	ATT	UTP20	-	superfamily_ARM-type_fold		0.308	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	T	NM_014503		101769493	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.976	G	G	101769493	T	G	101769493	3	3	154	1	0	0	0	0	1	0	0	0	17130	1493	52	5	7577	5	UTP20	12	101769493	Missense_Mutation	SNP	T	TCGA-IR-A3LL-01A-11D-A20U-09	276052	101769493	32082402	264	27682										
PXN	5829	genome.wustl.edu	37	chr12	120659471	120659471	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agctcgtccagctccctggtGgcagaggaggccgagatgcg	16	12	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:120659471G>T	ENST00000228307.7	-	6	927	c.786C>A	c.(784-786)gcC>gcA	p.A262A	PXN_ENST00000267257.7_Silent_p.A262A|PXN_ENST00000424649.2_Silent_p.A262A|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_5'Flank|PXN_ENST00000458477.2_Silent_p.A129A|PXN_ENST00000536957.1_Silent_p.A260A	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	262					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCCCTGGTGGCAGAGGAGG	0.642																																																	0													55	77	70					12																	120659471		2171	4264	6435	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.786C>A	12.37:g.120659471G>T			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.A262	ENST00000228307.7	37	c.786	CCDS44997.1	12																																																																																			PXN	-	NULL		0.642	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	G	NM_002859		120659471	-1	no_errors	ENST00000267257	ensembl	human	known	70_37	silent	SNP	1.000	T	T	120659471	G	T	120659471	2	4	154	1	0	0	0	0	0	0	0	1	12882	1335	47	4		4	PXN	12	120659471	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	18889978	120659471	13192424	265	27683										
HNF1A	64897	genome.wustl.edu	37	chr12	121438965	121438965	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcgtcatcgagaccttcatCtccacccagatggcctcttc	7	16	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:121438965C>T	ENST00000288757.3	-	0	1920				HNF1A_ENST00000544413.1_Silent_p.I629I|HNF1A_ENST00000541395.1_Silent_p.I653I|HNF1A_ENST00000257555.6_Silent_p.I622I|RP11-216P16.2_ENST00000606238.1_RNA	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGACCTTCATCTCCACCCAGA	0.637																																																	0													98	75	83					12																	121438965		2203	4300	6503	SO:0001628	intergenic_variant	6927			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150		12.37:g.121438965C>T			Q53HF0|Q9H9Z7	Silent	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.I622	ENST00000288757.3	37	c.1866	CCDS9210.1	12																																																																																			HNF1A	-	pfam_HNF1a_C		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding		C	NM_022895		121438965	1	no_errors	ENST00000257555	ensembl	human	known	70_37	silent	SNP	1.000	T	T	121438965	C	T	121438965	1	4	154	0	1	0	0	0	0	0	0	0	7271	903	32	1		1	HNF1A	12	121438965	IGR	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	779494	121438965	12412930	266	27684										
SETD8	387893	genome.wustl.edu	37	chr12	123888168	123888168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgattgaaagtgggaaggaaGaaggaatgaaggtaaggggc	18	1	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:123888168G>A	ENST00000402868.3	+	6	1072	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	SETD8_ENST00000330479.4_Missense_Mutation_p.E216K			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	257					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TGGGAAGGAAGAAGGAATGAA	0.488																																																	0													152	138	142					12																	123888168		2203	4300	6503	SO:0001583	missense	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.646G>A	12.37:g.123888168G>A	ENSP00000384629:p.Glu216Lys		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.E216K	ENST00000402868.3	37	c.646	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836890	0.71373	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98192	-4.78;-4.78	5.05	5.05	0.67936	SET domain (1);	0.046925	0.85682	D	0.000000	D	0.96938	0.9000	L	0.54323	1.7	0.80722	D	1	B;B	0.29531	0.078;0.247	B;B	0.33890	0.051;0.172	D	0.96290	0.9213	10	0.35671	T	0.21	-29.0845	16.9963	0.86368	0.0:0.0:1.0:0.0	.	257;216	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	K	216;216;207	ENSP00000384629:E216K;ENSP00000332995:E216K	ENSP00000332995:E216K	E	+	1	0	SETD8	122454121	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	6.378000	0.73150	2.362000	0.80069	0.561000	0.74099	GAA	SETD8	-	smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase		0.488	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	G	NM_020382		123888168	1	no_errors	ENST00000330479	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123888168	G	A	123888168	3	1	154	1	0	0	0	0	1	0	0	0	14167	943	33	1	668	1	SETD8	12	123888168	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2449203	123888168	9963727	267	27685										
NCOR2	9612	genome.wustl.edu	37	chr12	124821320	124821320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cagagaacggagttccagttCctggatggaaaagggtttac	13	7	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:124821320C>G	ENST00000405201.1	-	38	6094	c.6094G>C	c.(6094-6096)Gaa>Caa	p.E2032Q	NCOR2_ENST00000397355.1_Missense_Mutation_p.E2023Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.E2022Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.E2039Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1593Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.E2022Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2043					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGTTCCAGTTCCTGGATGGAA	0.602																																																	0													73	78	77					12																	124821320		1971	4167	6138	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6094G>C	12.37:g.124821320C>G	ENSP00000384018:p.Glu2032Gln		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E2039Q	ENST00000405201.1	37	c.6115	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	c	19.53	3.844078	0.71488	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.24350	1.86;2.13;1.86;2.13;1.87;2.13	4.78	4.78	0.61160	.	0.058000	0.64402	D	0.000002	T	0.38957	0.1060	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.76494	0.995;0.997;0.999	P;D;D	0.66351	0.829;0.917;0.943	T	0.26189	-1.0110	10	0.52906	T	0.07	-17.8706	17.8055	0.88600	0.0:1.0:0.0:0.0	.	2023;2032;2043	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	Q	2032;2022;2039;2023;2031;1593;124;2022	ENSP00000384018:E2032Q;ENSP00000384202:E2022Q;ENSP00000348551:E2039Q;ENSP00000380513:E2023Q;ENSP00000385618:E1593Q;ENSP00000400281:E2022Q	ENSP00000348551:E2039Q	E	-	1	0	NCOR2	123387273	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.402000	0.79972	2.185000	0.69588	0.556000	0.70494	GAA	NCOR2	-	NULL		0.602	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124821320	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124821320	C	G	124821320	3	3	154	1	0	0	0	0	1	0	0	0	10260	864	30	1	1490	1	NCOR2	12	124821320	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	933152	124821320	9030575	268	27686										
UBC	7316	genome.wustl.edu	37	chr12	125398044	125398044	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggtgtcactgggctcgacctCaagggtgatggtcttgccag	15	10	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr12:125398044C>G	ENST00000538617.1	-	3	590	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	UBC_ENST00000339647.5_Missense_Mutation_p.E92Q|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.E92Q|UBC_ENST00000536769.1_Missense_Mutation_p.E92Q			P0CG48	UBC_HUMAN	ubiquitin C	472	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCGACCTCAAGGGTGATG	0.532																																																	0													234	205	215					12																	125398044		2203	4300	6503	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.274G>C	12.37:g.125398044C>G	ENSP00000443053:p.Glu92Gln		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.E92Q	ENST00000538617.1	37	c.274		12	.	.	.	.	.	.	.	.	.	.	-	14.55	2.569959	0.45798	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656;ENST00000541272;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859	T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.12	4.12	0.48240	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.64402	U	0.000015	D	0.83440	0.5255	L	0.48174	1.505	0.53005	D	0.999967	P;P;D	0.53619	0.892;0.869;0.961	D;P;D	0.65987	0.94;0.901;0.94	D	0.85764	0.1351	10	0.87932	D	0	.	15.327	0.74172	0.0:1.0:0.0:0.0	.	181;92;92	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	Q	92	ENSP00000441543:E92Q;ENSP00000443053:E92Q;ENSP00000344818:E92Q;ENSP00000438394:E92Q;ENSP00000440205:E92Q;ENSP00000442800:E92Q;ENSP00000445337:E92Q;ENSP00000439492:E92Q;ENSP00000438289:E92Q;ENSP00000441238:E92Q;ENSP00000437452:E92Q	ENSP00000344818:E92Q	E	-	1	0	UBC	123963997	1.000000	0.71417	0.993000	0.49108	0.536000	0.34869	4.849000	0.62882	2.011000	0.59026	0.650000	0.86243	GAG	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.532	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	C	NM_021009		125398044	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	125398044	C	G	125398044	3	3	154	1	0	0	0	0	1	0	0	0	16873	835	29	1	1787	1	UBC	12	125398044	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	576724	125398044	8453851	269	27687										
TPTE2	93492	genome.wustl.edu	37	chr13	20000617	20000617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acagaggtggaccgtcatatAcattaattaatattttgtct	7	6	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:20000617A>G	ENST00000400230.2	-	18	1387	c.1343T>C	c.(1342-1344)gTa>gCa	p.V448A	TPTE2_ENST00000255310.6_Missense_Mutation_p.V371A|TPTE2_ENST00000382977.4_Missense_Mutation_p.V448A|TPTE2_ENST00000390680.2_Missense_Mutation_p.V371A|TPTE2_ENST00000400103.2_Missense_Mutation_p.V337A|TPTE2_ENST00000382975.4_Missense_Mutation_p.V408A|TPTE2_ENST00000382978.1_Missense_Mutation_p.V408A|TPTE2_ENST00000457266.2_Missense_Mutation_p.V337A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	448	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCGTCATATACATTAATTAA	0.348																																																	0													97	101	100					13																	20000617		2201	4299	6500	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1343T>C	13.37:g.20000617A>G	ENSP00000383089:p.Val448Ala		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V448A	ENST00000400230.2	37	c.1343	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	a	10.15	1.270785	0.23221	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.06	0.847	0.18961	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.605992	0.15491	N	0.259551	D	0.84710	0.5532	L	0.50333	1.59	0.09310	N	1	P;P;P	0.50272	0.766;0.677;0.933	P;P;P	0.58172	0.755;0.625;0.834	T	0.73000	-0.4120	9	.	.	.	-1.377	3.9345	0.09299	0.8106:0.0:0.1894:0.0	.	337;371;448	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	A	408;337;448;371;371;448;408;337;448	ENSP00000372438:V408A;ENSP00000382974:V337A;ENSP00000383089:V448A;ENSP00000255310:V371A;ENSP00000375098:V371A;ENSP00000372437:V448A;ENSP00000372435:V408A;ENSP00000442218:V337A	.	V	-	2	0	TPTE2	18898617	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	1.563000	0.36364	0.241000	0.21283	0.163000	0.16589	GTA	TPTE2	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.348	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		A	NM_199254		20000617	-1	no_errors	ENST00000382977	ensembl	human	known	70_37	missense	SNP	0.000	G	G	20000617	A	G	20000617	3	3	154	1	0	0	0	0	1	0	0	0	16462	391	14	5	237	5	TPTE2	13	20000617	Missense_Mutation	SNP	A	TCGA-IR-A3LL-01A-11D-A20U-09		20000617	95169261	270	27688										
ATP12A	479	genome.wustl.edu	37	chr13	25262603	25262603	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgtgggtgggcgcctttctCtgttggattgcatatgggat	15	7	1	0	rs544490511		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:25262603C>G	ENST00000381946.3	+	4	542	c.375C>G	c.(373-375)ctC>ctG	p.L125L	ATP12A_ENST00000218548.6_Silent_p.L125L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	125					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCGCCTTTCTCTGTTGGATTG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)												0													226	230	228					13																	25262603		2203	4300	6503	SO:0001819	synonymous_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.375C>G	13.37:g.25262603C>G			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.L125	ENST00000381946.3	37	c.375	CCDS31948.1	13																																																																																			ATP12A	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	C	NM_001676		25262603	1	no_errors	ENST00000218548	ensembl	human	known	70_37	silent	SNP	0.975	G	G	25262603	C	G	25262603	2	3	154	1	0	0	0	0	0	0	0	1	1123	900	32	1		1	ATP12A	13	25262603	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5261986	25262603	89907275	271	27689										
FLT1	2321	genome.wustl.edu	37	chr13	29041146	29041146	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggtttgcttgagctgtgttCaaggttaaagtactgcagaa	12	5	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:29041146C>G	ENST00000282397.4	-	3	533	c.282G>C	c.(280-282)ttG>ttC	p.L94F	FLT1_ENST00000539099.1_Missense_Mutation_p.L94F|FLT1_ENST00000541932.1_Missense_Mutation_p.L94F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	94	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCTGTGTTCAAGGTTAAAG	0.403																																																	0													225	207	213					13																	29041146		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.282G>C	13.37:g.29041146C>G	ENSP00000282397:p.Leu94Phe		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L94F	ENST00000282397.4	37	c.282	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153048	0.57259	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.32753	1.44;1.44;1.44	5.81	4.92	0.64577	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186676	0.35291	N	0.003304	T	0.60612	0.2282	M	0.87682	2.9	0.47862	D	0.999539	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.83275	0.992;0.992;0.995;0.989;0.996	T	0.66799	-0.5832	10	0.87932	D	0	.	14.7469	0.69494	0.0:0.8561:0.1438:0.0	.	94;94;94;94;94	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	F	94	ENSP00000282397:L94F;ENSP00000437631:L94F;ENSP00000442630:L94F	ENSP00000282397:L94F	L	-	3	2	FLT1	27939146	0.996000	0.38824	0.982000	0.44146	0.437000	0.31866	2.727000	0.47311	2.755000	0.94549	0.650000	0.86243	TTG	FLT1	-	smart_Ig_sub,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N		0.403	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			29041146	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.991	G	G	29041146	C	G	29041146	3	3	154	1	0	0	0	0	1	0	0	0	5959	825	29	1	4109	1	FLT1	13	29041146	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3778543	29041146	86128732	272	27690										
HMGB1	3146	genome.wustl.edu	37	chr13	31037403	31037403	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttgtctcccctttgggaggGatataggttttcatttctct	9	8	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:31037403G>A	ENST00000405805.1	-	3	1177	c.237C>T	c.(235-237)atC>atT	p.I79I	HMGB1_ENST00000341423.5_Silent_p.I79I|HMGB1_ENST00000399489.1_Silent_p.I79I|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399494.1_Silent_p.I79I|HMGB1_ENST00000339872.4_Silent_p.I79I|HMGB1_ENST00000326004.4_Silent_p.I79I			P09429	HMGB1_HUMAN	high mobility group box 1	79					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CTTTGGGAGGGATATAGGTTT	0.413																																																	0													78	89	85					13																	31037403		2203	4298	6501	SO:0001819	synonymous_variant	3146			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.237C>T	13.37:g.31037403G>A			A5D8W9|Q14321|Q5T7C3|Q6IBE1	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.I79	ENST00000405805.1	37	c.237	CCDS9335.1	13																																																																																			HMGB1	-	superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.413	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	HGNC	protein_coding	OTTHUMT00000303998.2	G	NM_002128		31037403	-1	no_errors	ENST00000339872	ensembl	human	known	70_37	silent	SNP	0.934	A	A	31037403	G	A	31037403	2	1	154	1	0	0	0	0	0	0	0	1	7245	1164	41	1		1	HMGB1	13	31037403	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1996257	31037403	84132475	273	27691										
USPL1	10208	genome.wustl.edu	37	chr13	31205020	31205020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttaataacctaatttctcctGatttggaagaatgtcacact	5	8	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:31205020G>A	ENST00000255304.4	+	4	619	c.277G>A	c.(277-279)Gat>Aat	p.D93N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	93					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AATTTCTCCTGATTTGGAAGA	0.328																																					Ovarian(60;318 1180 1554 28110 31601)												0													58	61	60					13																	31205020		2203	4300	6503	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.277G>A	13.37:g.31205020G>A	ENSP00000255304:p.Asp93Asn		Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.D93N	ENST00000255304.4	37	c.277	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514591	0.64522	.	.	ENSG00000132952	ENST00000255304	T	0.09163	3.01	6.07	6.07	0.98685	.	0.262304	0.35903	N	0.002916	T	0.20901	0.0503	M	0.69823	2.125	0.32554	N	0.532037	P	0.46277	0.875	P	0.47376	0.545	T	0.13124	-1.0521	10	0.52906	T	0.07	-18.1421	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	93	Q5W0Q7	USPL1_HUMAN	N	93	ENSP00000255304:D93N	ENSP00000255304:D93N	D	+	1	0	USPL1	30103020	1.000000	0.71417	0.994000	0.49952	0.120000	0.20174	4.959000	0.63666	2.885000	0.99019	0.655000	0.94253	GAT	USPL1	-	NULL		0.328	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205020	1	no_errors	ENST00000255304	ensembl	human	known	70_37	missense	SNP	0.955	A	A	31205020	G	A	31205020	3	1	154	1	0	0	0	0	1	0	0	0	17123	1290	45	1	287	1	USPL1	13	31205020	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	167617	31205020	83964858	274	27692										
C13orf15	28984	genome.wustl.edu	37	chr13	42032533	42032533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagcgccacttccactacgaGgagcacctggagcgcatgaa	12	13	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:42032533G>T	ENST00000379359.3	+	2	311	c.162G>T	c.(160-162)gaG>gaT	p.E54D		NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	54					cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)										TCCACTACGAGGAGCACCTGG	0.687																																																	0													8	10	10					13																	42032533		1982	4182	6164	SO:0001583	missense	28984			AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"response gene to complement 32"	610077	"chromosome 13 open reading frame 15"	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.162G>T	13.37:g.42032533G>T	ENSP00000368664:p.Glu54Asp		Q6NZ48|Q9UL69	Missense_Mutation	SNP	NULL	p.E54D	ENST00000379359.3	37	c.162	CCDS41880.1	13	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440846	0.43326	.	.	ENSG00000102760	ENST00000379359	.	.	.	5.32	2.67	0.31697	.	0.102376	0.64402	D	0.000005	T	0.25827	0.0629	L	0.37750	1.13	0.28034	N	0.934001	B	0.11235	0.004	B	0.11329	0.006	T	0.14699	-1.0463	9	0.26408	T	0.33	-17.8068	2.3083	0.04180	0.2601:0.13:0.4901:0.1198	.	54	Q9H4X1	RGC32_HUMAN	D	54	.	ENSP00000368664:E54D	E	+	3	2	C13orf15	40930533	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.303000	0.33470	0.246000	0.21394	0.561000	0.74099	GAG	RGCC	-	NULL		0.687	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGCC	HGNC	protein_coding	OTTHUMT00000044684.1	G	NM_014059		42032533	1	no_errors	ENST00000379359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42032533	G	T	42032533	3	4	154	1	0	0	0	0	1	0	0	0	1722	991	35	4	168	4	C13orf15	13	42032533	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	10827513	42032533	73137345	275	27693										
KLF5	688	genome.wustl.edu	37	chr13	73636078	73636078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agagcataaaaagtatagacGagacagtgcctcagtcgtag	11	7	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:73636078G>T	ENST00000377687.4	+	2	877	c.341G>T	c.(340-342)cGa>cTa	p.R114L	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.R23L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	114					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R114Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AAGTATAGACGAGACAGTGCC	0.418																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											162	156	158					13																	73636078		2203	4300	6503	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.341G>T	13.37:g.73636078G>T	ENSP00000366915:p.Arg114Leu		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R114L	ENST00000377687.4	37	c.341	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659947	0.88154	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.16196	2.7;2.36	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.23013	-1.0200	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	114	Q13887	KLF5_HUMAN	L	23;114;94	ENSP00000440407:R23L;ENSP00000366915:R114L	ENSP00000366915:R114L	R	+	2	0	KLF5	72534079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.873000	0.98535	0.563000	0.77884	CGA	KLF5	-	NULL		0.418	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73636078	1	no_errors	ENST00000377687	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73636078	G	T	73636078	3	4	154	1	0	0	0	0	1	0	0	0	8369	1058	37	3	347	3	KLF5	13	73636078	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	31603545	73636078	41533800	276	27694										
FAM155A	728215	genome.wustl.edu	37	chr13	108518440	108518440	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gccctgggggtaacaagtctCcaggcgccacacgggcttgg	15	13	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr13:108518440C>A	ENST00000375915.2	-	1	643	c.505G>T	c.(505-507)Gag>Tag	p.E169*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	169						integral component of membrane (GO:0016021)		p.E169K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TAACAAGTCTCCAGGCGCCAC	0.697																																																	1	Substitution - Missense(1)	urinary_tract(1)											24	30	28					13																	108518440		2184	4262	6446	SO:0001587	stop_gained	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.505G>T	13.37:g.108518440C>A	ENSP00000365080:p.Glu169*		B2RUV1|B7Z334	Nonsense_Mutation	SNP	NULL	p.E169*	ENST00000375915.2	37	c.505	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.924158	0.97940	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.45	4.6	0.57074	.	0.473409	0.20704	N	0.087209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.667	0.68915	0.1463:0.8537:0.0:0.0	.	.	.	.	X	169	.	ENSP00000365080:E169X	E	-	1	0	FAM155A	107316441	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.745000	0.74860	1.283000	0.44513	-0.314000	0.08810	GAG	FAM155A	-	NULL		0.697	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	C	NM_001080396		108518440	-1	no_errors	ENST00000375915	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	108518440	C	A	108518440	4	1	154	1	0	0	0	0	0	1	0	0	5480	864	30	3	883	3	FAM155A	13	108518440	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	34882362	108518440	6651438	277	27695										
TEP1	7011	genome.wustl.edu	37	chr14	20842653	20842653	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	accaagccgctgtcctgactCtgggtcccagagccccacag	10	17	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:20842653C>G	ENST00000262715.5	-	44	6446	c.6406G>C	c.(6406-6408)Gag>Cag	p.E2136Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E2028Q|TEP1_ENST00000545983.1_Missense_Mutation_p.E474Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2136					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTCCTGACTCTGGGTCCCAG	0.557																																																	0													41	39	40					14																	20842653		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6406G>C	14.37:g.20842653C>G	ENSP00000262715:p.Glu2136Gln		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2136Q	ENST00000262715.5	37	c.6406	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	4.348	0.064099	0.08388	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81415	2.13;2.13;-1.49	4.53	-0.897	0.10553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.911844	0.09509	N	0.792554	T	0.63189	0.2490	N	0.20357	0.565	0.09310	N	1	B;B;B;B	0.14438	0.006;0.004;0.01;0.002	B;B;B;B	0.15052	0.002;0.002;0.012;0.001	T	0.45396	-0.9264	10	0.30078	T	0.28	-1.4918	5.4881	0.16761	0.0:0.298:0.4389:0.2632	.	474;2028;1479;2136	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	2136;2136;2028;474	ENSP00000262715:E2136Q;ENSP00000452574:E2028Q;ENSP00000438849:E474Q	ENSP00000262715:E2136Q	E	-	1	0	TEP1	19912493	0.000000	0.05858	0.005000	0.12908	0.962000	0.63368	-0.504000	0.06375	-0.265000	0.09352	-0.519000	0.04390	GAG	TEP1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20842653	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.002	G	G	20842653	C	G	20842653	3	3	154	1	0	0	0	0	1	0	0	0	15789	922	32	1	1525	1	TEP1	14	20842653	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		20842653	86506887	278	27696										
ACIN1	22985	genome.wustl.edu	37	chr14	23548958	23548958	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagatcttgatctagaactgGaggaggaagatgaggaggac	16	4	2	5			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:23548958G>C	ENST00000262710.1	-	6	2087	c.1760C>G	c.(1759-1761)tCc>tGc	p.S587C	ACIN1_ENST00000605057.1_Missense_Mutation_p.S529C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S547C|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.S587C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	587	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTAGAACTGGAGGAGGAAGA	0.512																																																	0													201	190	194					14																	23548958		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1760C>G	14.37:g.23548958G>C	ENSP00000262710:p.Ser587Cys		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.S587C	ENST00000262710.1	37	c.1760	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574468	0.65878	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.36340	1.27;1.42;1.26	5.42	5.42	0.78866	.	0.000000	0.40554	N	0.001066	T	0.46983	0.1421	L	0.27053	0.805	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.987;0.987	T	0.42498	-0.9448	10	0.62326	D	0.03	-3.4993	14.5948	0.68397	0.0:0.0:1.0:0.0	.	587;587;547	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	C	587;547;587	ENSP00000262710:S587C;ENSP00000405677:S547C;ENSP00000451328:S587C	ENSP00000262710:S587C	S	-	2	0	ACIN1	22618798	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.235000	0.58666	2.821000	0.97095	0.650000	0.86243	TCC	ACIN1	-	NULL		0.512	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23548958	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23548958	G	C	23548958	3	2	154	1	0	0	0	0	1	0	0	0	142	1174	41	1	2468	1	ACIN1	14	23548958	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2706305	23548958	83800582	279	27697										
HEATR5A	25938	genome.wustl.edu	37	chr14	31782183	31782183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tatctccttaccttcagcagGaagttgggaggcaaattctg	10	9	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:31782183G>A	ENST00000389961.3	-	27	4413	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S	HEATR5A_ENST00000543095.2_Missense_Mutation_p.P1478S|HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1472S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1185S|AL136418.1_ENST00000582500.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1472										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCTTCAGCAGGAAGTTGGGAG	0.378																																																	0													72	68	69					14																	31782183		1886	4125	6011	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4414C>T	14.37:g.31782183G>A	ENSP00000374611:p.Pro1472Ser		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P1472S	ENST00000389961.3	37	c.4414		14	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505811	0.64410	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.87	4.87	0.63330	.	0.054671	0.64402	D	0.000001	T	0.68412	0.2998	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.75283	-0.3372	10	0.87932	D	0	.	18.3958	0.90497	0.0:0.0:1.0:0.0	.	1472	Q86XA9-2	.	S	1472;1472;1185;1478	ENSP00000374611:P1472S;ENSP00000405407:P1472S;ENSP00000408681:P1185S;ENSP00000437968:P1478S	ENSP00000374611:P1472S	P	-	1	0	HEATR5A	30851934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.433000	0.80362	2.417000	0.82017	0.561000	0.74099	CCT	HEATR5A	-	superfamily_ARM-type_fold		0.378	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		G	NM_015473		31782183	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31782183	G	A	31782183	3	1	154	1	0	0	0	0	1	0	0	0	7051	1174	41	1	1744	1	HEATR5A	14	31782183	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	8233225	31782183	75567357	280	27698										
CLEC14A	161198	genome.wustl.edu	37	chr14	38724060	38724060	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agaggaggagtcgaaagcctGaggagtggcagaggaagtcg	19	5	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:38724060G>A	ENST00000342213.2	-	1	1514	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	390						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCGAAAGCCTGAGGAGTGGCA	0.498																																																	0													56	51	53					14																	38724060		2203	4300	6503	SO:0001587	stop_gained	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1168C>T	14.37:g.38724060G>A	ENSP00000353013:p.Gln390*		Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q390*	ENST00000342213.2	37	c.1168	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.945322	0.97134	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	.	.	.	3.94	3.03	0.35002	.	0.483471	0.17320	N	0.178525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-7.0391	8.9854	0.35990	0.0:0.0:0.7794:0.2206	.	.	.	.	X	390;155	.	ENSP00000353013:Q390X	Q	-	1	0	CLEC14A	37793811	0.017000	0.18338	0.010000	0.14722	0.088000	0.18126	1.673000	0.37534	1.218000	0.43458	0.563000	0.77884	CAG	CLEC14A	-	NULL		0.498	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38724060	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	nonsense	SNP	0.010	A	A	38724060	G	A	38724060	4	1	154	1	0	0	0	0	0	1	0	0	3504	1299	45	1	308	1	CLEC14A	14	38724060	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6941877	38724060	68625480	281	27699										
GNPNAT1	64841	genome.wustl.edu	37	chr14	53250150	53250150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atagtacttactcataaattGttcagggctgacaactccag	7	9	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:53250150G>T	ENST00000216410.3	-	3	395	c.208C>A	c.(208-210)Caa>Aaa	p.Q70K	GNPNAT1_ENST00000554230.1_5'UTR|RN7SL588P_ENST00000583393.1_RNA	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	70	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					CTCATAAATTGTTCAGGGCTG	0.348																																																	0													69	69	69					14																	53250150		2203	4299	6502	SO:0001583	missense	64841			AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.208C>A	14.37:g.53250150G>T	ENSP00000216410:p.Gln70Lys			Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.Q70K	ENST00000216410.3	37	c.208	CCDS9712.1	14	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339839	0.60963	.	.	ENSG00000100522	ENST00000216410;ENST00000557604	.	.	.	5.37	5.37	0.77165	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.46614	1.455	0.80722	D	1	P	0.40360	0.714	B	0.29267	0.1	T	0.48258	-0.9051	9	0.25106	T	0.35	-10.0235	19.466	0.94939	0.0:0.0:1.0:0.0	.	70	Q96EK6	GNA1_HUMAN	K	70	.	ENSP00000216410:Q70K	Q	-	1	0	GNPNAT1	52319900	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.941000	0.87700	2.661000	0.90470	0.460000	0.39030	CAA	GNPNAT1	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.348	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPNAT1	HGNC	protein_coding	OTTHUMT00000276898.1	G			53250150	-1	no_errors	ENST00000216410	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53250150	G	T	53250150	3	4	154	1	0	0	0	0	1	0	0	0	6563	1386	48	4	362	4	GNPNAT1	14	53250150	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	14526090	53250150	54099390	282	27700										
BMP4	652	genome.wustl.edu	37	chr14	54417513	54417513	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggaagagccgaagctctgcaGaggagatcacctcgttctca	12	11	3	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:54417513G>C	ENST00000245451.4	-	4	857	c.464C>G	c.(463-465)tCt>tGt	p.S155C	BMP4_ENST00000417573.1_Missense_Mutation_p.S155C|BMP4_ENST00000559087.1_Missense_Mutation_p.S155C|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.S155C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	155					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAGCTCTGCAGAGGAGATCAC	0.527																																																	0													42	40	41					14																	54417513		2203	4300	6503	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.464C>G	14.37:g.54417513G>C	ENSP00000245451:p.Ser155Cys		Q9UM80	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.S155C	ENST00000245451.4	37	c.464	CCDS9715.1	14	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760095	0.69763	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.67698	-0.28;-0.28	5.2	5.2	0.72013	Transforming growth factor-beta, N-terminal (1);	0.053140	0.85682	D	0.000000	D	0.82728	0.5100	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.84892	0.0837	10	0.87932	D	0	.	17.9063	0.88919	0.0:0.0:1.0:0.0	.	155	P12644	BMP4_HUMAN	C	155	ENSP00000245451:S155C;ENSP00000394165:S155C	ENSP00000245451:S155C	S	-	2	0	BMP4	53487263	1.000000	0.71417	0.806000	0.32338	0.987000	0.75469	9.648000	0.98483	2.711000	0.92665	0.655000	0.94253	TCT	BMP4	-	pfam_TGF-b_N		0.527	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP4	HGNC	protein_coding	OTTHUMT00000276894.2	G	NM_001202		54417513	-1	no_errors	ENST00000245451	ensembl	human	known	70_37	missense	SNP	0.996	C	C	54417513	G	C	54417513	3	2	154	1	0	0	0	0	1	0	0	0	1463	942	33	1	766	1	BMP4	14	54417513	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1167363	54417513	52932027	283	27701										
DACT1	51339	genome.wustl.edu	37	chr14	59113006	59113006	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctggaggaagcgcacctggtCaaggcccagtttatcccggg	14	12	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:59113006C>T	ENST00000335867.4	+	4	1689	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V	DACT1_ENST00000395153.3_Silent_p.V518V|DACT1_ENST00000541264.2_Silent_p.V274V|DACT1_ENST00000556859.1_Silent_p.V274V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	555					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGCACCTGGTCAAGGCCCAGT	0.632																																																	0													35	40	38					14																	59113006		2203	4300	6503	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1665C>T	14.37:g.59113006C>T			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.V555	ENST00000335867.4	37	c.1665	CCDS9736.1	14																																																																																			DACT1	-	NULL		0.632	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	C	NM_016651		59113006	1	no_errors	ENST00000335867	ensembl	human	known	70_37	silent	SNP	0.657	T	T	59113006	C	T	59113006	2	4	154	1	0	0	0	0	0	0	0	1	4227	813	29	1		1	DACT1	14	59113006	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4695493	59113006	48236534	284	27702										
PPP2R5E	5529	genome.wustl.edu	37	chr14	64006361	64006361	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggacttccgagaaaatccgtCtactttatccactgatggag	9	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:64006361C>G	ENST00000337537.3	-	2	645	c.43G>C	c.(43-45)Gac>Cac	p.D15H	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.D15H	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	15					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GAAAATCCGTCTACTTTATCC	0.448																																																	0													119	104	109					14																	64006361		2203	4300	6503	SO:0001583	missense	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.43G>C	14.37:g.64006361C>G	ENSP00000337641:p.Asp15His		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D15H	ENST00000337537.3	37	c.43	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530901	0.85706	.	.	ENSG00000154001	ENST00000337537;ENST00000555899	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65443	0.935;0.935;0.935	T	0.64402	-0.6416	9	0.38643	T	0.18	-8.7063	19.3054	0.94161	0.0:1.0:0.0:0.0	.	15;15;15	B7ZKK9;B7Z5X1;Q16537	.;.;2A5E_HUMAN	H	15	.	ENSP00000337641:D15H	D	-	1	0	PPP2R5E	63076114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.275000	0.78548	2.539000	0.85634	0.650000	0.86243	GAC	PPP2R5E	-	pirsf_PP2A_B56		0.448	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	C	NM_006246		64006361	-1	no_errors	ENST00000337537	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64006361	C	G	64006361	3	3	154	1	0	0	0	0	1	0	0	0	12423	913	32	1	1412	1	PPP2R5E	14	64006361	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4893355	64006361	43343179	285	27703										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68264470	68264470	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtatcttcgggaaggttgctCctctgaaagagcaaacccaa	10	10	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:68264470C>G	ENST00000347230.4	-	12	2389	c.2251G>C	c.(2251-2253)Gag>Cag	p.E751Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E751Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	751					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAAGGTTGCTCCTCTGAAAGA	0.537																																																	0													72	62	65					14																	68264470		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2251G>C	14.37:g.68264470C>G	ENSP00000251119:p.Glu751Gln		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E751Q	ENST00000347230.4	37	c.2251	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499505	0.44455	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29917	1.69;1.55	5.38	3.57	0.40892	.	0.650048	0.16609	N	0.206995	T	0.28995	0.0720	L	0.60455	1.87	0.31834	N	0.624321	P;P;B	0.46142	0.873;0.59;0.22	B;B;B	0.41036	0.23;0.346;0.036	T	0.35919	-0.9769	10	0.44086	T	0.13	-4.9507	8.0667	0.30665	0.0:0.8193:0.0:0.1807	.	751;751;751	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	Q	751;730;751	ENSP00000251119:E751Q;ENSP00000450603:E751Q	ENSP00000251119:E751Q	E	-	1	0	ZFYVE26	67334223	0.967000	0.33354	0.797000	0.32132	0.693000	0.40251	1.972000	0.40540	0.847000	0.35167	0.655000	0.94253	GAG	ZFYVE26	-	NULL		0.537	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68264470	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	0.964	G	G	68264470	C	G	68264470	3	3	154	1	0	0	0	0	1	0	0	0	17698	864	30	1	5492	1	ZFYVE26	14	68264470	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	4258109	68264470	39085070	286	27704										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72128168	72128168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gggtgcacaatccgtgctctGacagtgtctgttataggtgt	13	8	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:72128168G>A	ENST00000555818.1	+	7	2587	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D222N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D747N|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D747N	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	747	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCGTGCTCTGACAGTGTCTG	0.512																																																	0													152	126	135					14																	72128168		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2239G>A	14.37:g.72128168G>A	ENSP00000450832:p.Asp747Asn		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.D747N	ENST00000555818.1	37	c.2239	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.247326	0.95305	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.78	5.78	0.91487	Rap/ran-GAP (2);	0.166245	0.64402	D	0.000004	D	0.95758	0.8620	L	0.56340	1.77	0.80722	D	1	D;B;D;P;P	0.60575	0.973;0.029;0.988;0.735;0.762	P;B;D;B;P	0.64877	0.839;0.061;0.93;0.444;0.565	D	0.95418	0.8504	10	0.66056	D	0.02	-23.9275	20.3668	0.98882	0.0:0.0:1.0:0.0	.	222;747;222;747;747	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	N	747;747;747;222	ENSP00000370630:D747N;ENSP00000450832:D747N;ENSP00000351352:D747N;ENSP00000440682:D222N	ENSP00000351352:D747N	D	+	1	0	SIPA1L1	71197921	1.000000	0.71417	0.631000	0.29282	0.452000	0.32318	9.835000	0.99442	2.894000	0.99253	0.655000	0.94253	GAC	SIPA1L1	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.512	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72128168	1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72128168	G	A	72128168	3	1	154	1	0	0	0	0	1	0	0	0	14359	1290	45	1	2261	1	SIPA1L1	14	72128168	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3863698	72128168	35221372	287	27705										
NUMB	8650	genome.wustl.edu	37	chr14	73743895	73743895	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggctgctgagcccggacgctCttagacacctcttctaacca	9	15	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:73743895C>G	ENST00000355058.3	-	13	1625	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N	NUMB_ENST00000535282.1_Missense_Mutation_p.K438N|NUMB_ENST00000555394.1_Missense_Mutation_p.K401N|NUMB_ENST00000454166.4_Missense_Mutation_p.K303N|NUMB_ENST00000554521.2_Missense_Mutation_p.K243N|NUMB_ENST00000356296.4_Missense_Mutation_p.K401N|NUMB_ENST00000555238.1_Missense_Mutation_p.K449N|NUMB_ENST00000559312.1_Missense_Mutation_p.K254N|NUMB_ENST00000544991.3_Missense_Mutation_p.K254N|NUMB_ENST00000554546.1_Missense_Mutation_p.K390N|NUMB_ENST00000359560.3_Missense_Mutation_p.K438N|NUMB_ENST00000555738.2_Missense_Mutation_p.K292N|NUMB_ENST00000557597.1_Missense_Mutation_p.K438N|NUMB_ENST00000556772.1_Missense_Mutation_p.K305N|NUMB_ENST00000560335.1_Missense_Mutation_p.K303N			P49757	NUMB_HUMAN	numb homolog (Drosophila)	449					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCCGGACGCTCTTAGACACCT	0.612																																																	0													39	38	38					14																	73743895		2203	4300	6503	SO:0001583	missense	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1347G>C	14.37:g.73743895C>G	ENSP00000347169:p.Lys449Asn		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.K449N	ENST00000355058.3	37	c.1347	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767232	0.49574	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63744	0.05;0.04;0.28;0.26;0.9;0.26;0.28;0.04;0.1;-0.06;0.05;0.16;0.28	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.994;0.994;0.994;0.994;0.999;0.999;0.994;0.968	T	0.68387	-0.5422	10	0.87932	D	0	-12.9514	9.3731	0.38266	0.0:0.7866:0.0:0.2134	.	147;292;303;243;254;390;401;438;449	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	N	390;401;438;449;305;449;438;401;254;303;292;243;438	ENSP00000452416:K390N;ENSP00000348644:K401N;ENSP00000451117:K438N;ENSP00000451300:K449N;ENSP00000451513:K305N;ENSP00000347169:K449N;ENSP00000352563:K438N;ENSP00000451625:K401N;ENSP00000446001:K254N;ENSP00000394025:K303N;ENSP00000452069:K292N;ENSP00000450817:K243N;ENSP00000441258:K438N	ENSP00000347169:K449N	K	-	3	2	NUMB	72813648	1.000000	0.71417	0.991000	0.47740	0.793000	0.44817	1.668000	0.37481	1.599000	0.50093	0.655000	0.94253	AAG	NUMB	-	pirsf_Numb/numb-like		0.612	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	C			73743895	-1	no_errors	ENST00000355058	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73743895	C	G	73743895	3	3	154	1	0	0	0	0	1	0	0	0	10775	912	32	1	612	1	NUMB	14	73743895	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1615727	73743895	33605645	288	27706										
MLH3	27030	genome.wustl.edu	37	chr14	75516266	75516266	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcttcagcatcaatactgttGagggcaagttcctcaacaca	8	11	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:75516266G>A	ENST00000556740.1	-	1	128	c.93C>T	c.(91-93)ctC>ctT	p.L31L	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Silent_p.L31L|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Silent_p.L31L|MLH3_ENST00000556257.1_Silent_p.L31L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	31					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CAATACTGTTGAGGGCAAGTT	0.453								Mismatch excision repair (MMR)																																									0													99	91	93					14																	75516266		2203	4300	6503	SO:0001819	synonymous_variant	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.93C>T	14.37:g.75516266G>A			P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.L31	ENST00000556740.1	37	c.93	CCDS32123.1	14																																																																																			MLH3	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd		0.453	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	G	NM_014381		75516266	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	silent	SNP	0.997	A	A	75516266	G	A	75516266	2	1	154	1	0	0	0	0	0	0	0	1	9641	1277	45	1		1	MLH3	14	75516266	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1772371	75516266	31833274	289	27707										
C14orf145	145508	genome.wustl.edu	37	chr14	80971314	80971314	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtgatcctgccaagaggatGagtgatctaacccacgagtg	12	9	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:80971314G>A	ENST00000555265.1	-	24	3497	c.3122C>T	c.(3121-3123)tCa>tTa	p.S1041L	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.S1041L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1041						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCAAGAGGATGAGTGATCTAA	0.408																																																	0													71	68	69					14																	80971314		2203	4300	6503	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.3122C>T	14.37:g.80971314G>A	ENSP00000451162:p.Ser1041Leu		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.S1041L	ENST00000555265.1	37	c.3122	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134136	0.56828	.	.	ENSG00000100629	ENST00000281129;ENST00000555265	T;T	0.51071	0.72;0.72	5.32	4.4	0.53042	.	0.000000	0.56097	D	0.000036	T	0.32585	0.0834	L	0.27053	0.805	0.21762	N	0.999552	B	0.33612	0.419	B	0.33690	0.168	T	0.16988	-1.0384	10	0.32370	T	0.25	.	10.1288	0.42665	0.0925:0.0:0.9075:0.0	.	1041	Q6ZU80	CE128_HUMAN	L	1041	ENSP00000281129:S1041L;ENSP00000451162:S1041L	ENSP00000281129:S1041L	S	-	2	0	CEP128	80041067	0.909000	0.30893	0.227000	0.23927	0.311000	0.27955	2.371000	0.44248	2.757000	0.94681	0.650000	0.86243	TCA	CEP128	-	NULL		0.408	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	G	NM_152446		80971314	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	missense	SNP	0.012	A	A	80971314	G	A	80971314	3	1	154	1	0	0	0	0	1	0	0	0	1753	1294	45	1	170	1	C14orf145	14	80971314	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5455048	80971314	26378226	290	27708										
FLRT2	23768	genome.wustl.edu	37	chr14	86089523	86089523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggcgcggtgatatttgtgctGgtggtcttgctcagcgtctt	15	8	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:86089523G>A	ENST00000330753.4	+	2	2432	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	FLRT2_ENST00000554746.1_Silent_p.L555L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	555					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATTTGTGCTGGTGGTCTTGC	0.577																																																	0													76	81	79					14																	86089523		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1665G>A	14.37:g.86089523G>A			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.L555	ENST00000330753.4	37	c.1665	CCDS9877.1	14																																																																																			FLRT2	-	NULL		0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	G			86089523	1	no_errors	ENST00000330753	ensembl	human	known	70_37	silent	SNP	0.045	A	A	86089523	G	A	86089523	2	1	154	1	0	0	0	0	0	0	0	1	5957	1335	47	4		4	FLRT2	14	86089523	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5118209	86089523	21260017	291	27709										
TTC8	123016	genome.wustl.edu	37	chr14	89341385	89341385	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cacaggcaagggcactattaCaaactgcatcatcattagca	7	11	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:89341385C>T	ENST00000345383.5	+	13	1417	c.1333C>T	c.(1333-1335)Caa>Taa	p.Q445*	TTC8_ENST00000338104.6_Nonsense_Mutation_p.Q471*|TTC8_ENST00000536576.1_Nonsense_Mutation_p.Q216*|TTC8_ENST00000380656.2_Nonsense_Mutation_p.Q455*|TTC8_ENST00000346301.4_Nonsense_Mutation_p.Q415*|TTC8_ENST00000358622.5_Nonsense_Mutation_p.Q257*|TTC8_ENST00000354441.6_Nonsense_Mutation_p.Q190*	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	481					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCACTATTACAAACTGCATC	0.313																																																	0													136	128	130					14																	89341385		2203	4297	6500	SO:0001587	stop_gained	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1333C>T	14.37:g.89341385C>T	ENSP00000339486:p.Gln445*		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Nonsense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q471*	ENST00000345383.5	37	c.1411	CCDS9885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.034919|3.034919	0.54896|0.54896	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76248	.|0.3961	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75033	.|-0.3460	.|3	0.11794|.	T|.	0.64|.	-12.7215|-12.7215	19.293|19.293	0.94110|0.94110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	445;216;415;471;190;455;257|243	.|.	ENSP00000337653:Q471X|.	Q|T	+|+	1|2	0|0	TTC8|TTC8	88411138|88411138	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.549000|0.549000	0.35272|0.35272	6.630000|6.630000	0.74272|0.74272	2.561000|2.561000	0.86390|0.86390	0.555000|0.555000	0.69702|0.69702	CAA|ACA	TTC8	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.313	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	C	NM_144596		89341385	1	no_errors	ENST00000338104	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	89341385	C	T	89341385	4	4	154	1	0	0	0	0	0	1	0	0	16745	479	17	4	1417	4	TTC8	14	89341385	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3251862	89341385	18008155	292	27710										
AKT1	207	genome.wustl.edu	37	chr14	105258937	105258937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctggcagcgggtactaacctCgtttgtgcagccaaccctcc	10	15	0	0	rs368797346		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr14:105258937C>T	ENST00000554581.1	-	1	1524	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	AKT1_ENST00000349310.3_Missense_Mutation_p.R15Q|AKT1_ENST00000402615.2_Missense_Mutation_p.R15Q|AKT1_ENST00000554848.1_Missense_Mutation_p.R15Q|AKT1_ENST00000407796.2_Missense_Mutation_p.R15Q|AKT1_ENST00000555528.1_Missense_Mutation_p.R15Q			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	15	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GTACTAACCTCGTTTGTGCAG	0.677		1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	108	92	97		44,44,44	2.5	1	14		97	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	43,43,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	15/481,15/481,15/481	105258937	1,13001	2203	4298	6501	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.44G>A	14.37:g.105258937C>T	ENSP00000451828:p.Arg15Gln		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.R15Q	ENST00000554581.1	37	c.44	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531238	0.45073	0.0	1.16E-4	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	2.54	2.54	0.30619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.239831	0.26052	N	0.026624	T	0.55449	0.1921	L	0.28608	0.87	0.53005	D	0.999965	P	0.36125	0.538	B	0.34452	0.183	T	0.51896	-0.8647	10	0.31617	T	0.26	.	5.3462	0.16010	0.0:0.8416:0.0:0.1584	.	15	P31749	AKT1_HUMAN	Q	15	ENSP00000451828:R15Q;ENSP00000384293:R15Q;ENSP00000270202:R15Q;ENSP00000385326:R15Q;ENSP00000450688:R15Q;ENSP00000451166:R15Q;ENSP00000451824:R15Q	ENSP00000270202:R15Q	R	-	2	0	AKT1	104329982	0.993000	0.37304	0.986000	0.45419	0.776000	0.43924	2.369000	0.44231	1.725000	0.51514	0.511000	0.50034	CGA	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.677	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	C	NM_005163		105258937	-1	no_errors	ENST00000349310	ensembl	human	known	70_37	missense	SNP	0.997	T	T	105258937	C	T	105258937	3	4	154	1	0	0	0	0	1	0	0	0	478	884	31	1	1450	1	AKT1	14	105258937	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	15917552	105258937	2090603	293	27711										
MAP1A	4130	genome.wustl.edu	37	chr15	43821015	43821015	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggccccatcgtggggagctCtccccatccttcctgaaccc	9	19	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:43821015C>T	ENST00000300231.5	+	4	7794	c.7344C>T	c.(7342-7344)ctC>ctT	p.L2448L	MAP1A_ENST00000382031.1_Silent_p.L2686L|MAP1A_ENST00000399453.1_Silent_p.L2448L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2448					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTGGGGAGCTCTCCCCATCCT	0.667																																																	0													30	34	33					15																	43821015		1958	4144	6102	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7344C>T	15.37:g.43821015C>T			O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.L2448	ENST00000300231.5	37	c.7344	CCDS42031.1	15																																																																																			MAP1A	-	NULL		0.667	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43821015	1	no_errors	ENST00000399453	ensembl	human	known	70_37	silent	SNP	0.996	T	T	43821015	C	T	43821015	2	4	154	1	0	0	0	0	0	0	0	1	9250	900	32	1		1	MAP1A	15	43821015	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		43821015	58710377	294	27712										
ADAM10	102	genome.wustl.edu	37	chr15	58920052	58920052	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttgacccaaattcttagattCtcctggtgtgcactctgttc	7	11	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:58920052C>G	ENST00000260408.3	-	10	1650	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	ADAM10_ENST00000396140.2_Missense_Mutation_p.E102Q|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	403	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCTTAGATTCTCCTGGTGTG	0.348																																																	0													108	97	101					15																	58920052		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1207G>C	15.37:g.58920052C>G	ENSP00000260408:p.Glu403Gln		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E403Q	ENST00000260408.3	37	c.1207	CCDS10167.1	15	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551834	0.86127	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.29655	1.56;1.56	5.52	5.52	0.82312	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	L	0.45470	1.425	0.80722	D	1	D;D	0.71674	0.998;0.982	D;D	0.70227	0.968;0.925	T	0.18871	-1.0323	10	0.24483	T	0.36	-26.8263	19.434	0.94783	0.0:1.0:0.0:0.0	.	102;403	B4DU28;O14672	.;ADA10_HUMAN	Q	403;222;102	ENSP00000260408:E403Q;ENSP00000379444:E102Q	ENSP00000260408:E403Q	E	-	1	0	ADAM10	56707344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.590000	0.87494	0.563000	0.77884	GAA	ADAM10	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.348	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM10	HGNC	protein_coding	OTTHUMT00000255880.2	C	NM_001110		58920052	-1	no_errors	ENST00000260408	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58920052	C	G	58920052	3	3	154	1	0	0	0	0	1	0	0	0	234	922	32	1	1067	1	ADAM10	15	58920052	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	15099037	58920052	43611340	295	27713										
GCNT3	9245	genome.wustl.edu	37	chr15	59911592	59911592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tatgctccctgctctggaatCcaccagcgggctatctgcgt	10	14	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:59911592C>T	ENST00000396065.1	+	3	1603	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	GCNT3_ENST00000560585.1_Silent_p.I385I	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	385					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTCTGGAATCCACCAGCGGG	0.507																																																	0													140	133	135					15																	59911592		2190	4290	6480	SO:0001819	synonymous_variant	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1155C>T	15.37:g.59911592C>T				Silent	SNP	pfam_Glyco_trans_14	p.I385	ENST00000396065.1	37	c.1155	CCDS10172.1	15																																																																																			GCNT3	-	pfam_Glyco_trans_14		0.507	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	C	NM_004751		59911592	1	no_errors	ENST00000396065	ensembl	human	known	70_37	silent	SNP	0.962	T	T	59911592	C	T	59911592	2	4	154	1	0	0	0	0	0	0	0	1	6321	845	30	1		1	GCNT3	15	59911592	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	991540	59911592	42619800	296	27714										
GTF2A2	2958	genome.wustl.edu	37	chr15	59934407	59934407	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cacctctctgaattcaacatCattcagtacaaaagtccaca	3	13	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:59934407C>T	ENST00000396060.2	-	4	413	c.232G>A	c.(232-234)Gat>Aat	p.D78N	GTF2A2_ENST00000396063.1_Missense_Mutation_p.D78N|GTF2A2_ENST00000396061.1_Missense_Mutation_p.D78N|GTF2A2_ENST00000396064.3_Intron|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000484743.1_Missense_Mutation_p.D43N|GTF2A2_ENST00000267869.4_5'UTR	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	78					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						AATTCAACATCATTCAGTACA	0.353																																																	0													146	140	142					15																	59934407		2190	4289	6479	SO:0001583	missense	2958			BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"General transcription factors"	4647	protein-coding gene	gene with protein product		600519	"general transcription factor IIA, 2 (12kD subunit)"			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.232G>A	15.37:g.59934407C>T	ENSP00000379372:p.Asp78Asn		A8MYQ7|Q6FGB5	Missense_Mutation	SNP	pfam_TFIIA_gsu_C,pfam_TFIIA_gsu_N,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pirsf_TFIIA_gsu	p.D78N	ENST00000396060.2	37	c.232	CCDS10173.1	15	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046169	0.55110	.	.	ENSG00000140307	ENST00000396060;ENST00000396063;ENST00000396061;ENST00000484743	.	.	.	5.48	5.48	0.80851	Transcription initiation factor IIA, gamma subunit, C-terminal (1);Transcription factor IIA, beta-barrel (2);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	N	0.16903	0.455	0.80722	D	1	B	0.12013	0.005	B	0.22880	0.042	T	0.41574	-0.9501	9	0.11182	T	0.66	-0.3836	19.717	0.96124	0.0:1.0:0.0:0.0	.	78	P52657	T2AG_HUMAN	N	78;78;78;43	.	ENSP00000379372:D78N	D	-	1	0	GTF2A2	57721699	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.744000	0.68664	2.745000	0.94114	0.484000	0.47621	GAT	GTF2A2	-	pfam_TFIIA_gsu_C,superfamily_TFIIA_b-brl,pirsf_TFIIA_gsu		0.353	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A2	HGNC	protein_coding	OTTHUMT00000256067.2	C	NM_004492		59934407	-1	no_errors	ENST00000396060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59934407	C	T	59934407	3	4	154	1	0	0	0	0	1	0	0	0	6874	826	29	1	105	1	GTF2A2	15	59934407	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	22815	59934407	42596985	297	27715										
ACSBG1	23205	genome.wustl.edu	37	chr15	78486929	78486929	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcccacttgtcctggcgcttGaagcccaaagcgatgaggtc	11	13	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:78486929G>C	ENST00000258873.4	-	3	577	c.372C>G	c.(370-372)ttC>ttG	p.F124L	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'Flank	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	124					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTGGCGCTTGAAGCCCAAAG	0.597																																																	0													136	129	131					15																	78486929		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.372C>G	15.37:g.78486929G>C	ENSP00000258873:p.Phe124Leu		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.F124L	ENST00000258873.4	37	c.372	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	G	6.696	0.497097	0.12762	.	.	ENSG00000103740	ENST00000258873	T	0.11385	2.78	5.12	5.12	0.69794	.	0.165039	0.50627	D	0.000103	T	0.12732	0.0309	L	0.50333	1.59	0.80722	D	1	B;B	0.22541	0.066;0.071	B;B	0.25987	0.041;0.065	T	0.09509	-1.0671	10	0.11794	T	0.64	-30.7276	17.1444	0.86762	0.0:0.0:1.0:0.0	.	124;124	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	L	124	ENSP00000258873:F124L	ENSP00000258873:F124L	F	-	3	2	ACSBG1	76273984	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	2.914000	0.48797	2.380000	0.81148	0.655000	0.94253	TTC	ACSBG1	-	NULL		0.597	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	G	NM_015162		78486929	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78486929	G	C	78486929	3	2	154	1	0	0	0	0	1	0	0	0	173	1281	45	1	1850	1	ACSBG1	15	78486929	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	18552522	78486929	24044463	298	27716										
RASGRF1	5923	genome.wustl.edu	37	chr15	79327552	79327552	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtaaaaacatgatggtttcGctgaaagagaaagcacaggg	12	5	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:79327552G>A	ENST00000419573.3	-	6	1153	c.879C>T	c.(877-879)agC>agT	p.S293S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Splice_Site_p.S293S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	293	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGATGGTTTCGCTGAAAGAGA	0.567																																																	0													31	29	30					15																	79327552		2196	4293	6489	SO:0001630	splice_region_variant	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.879-1C>T	15.37:g.79327552G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S293	ENST00000419573.3	37	c.879	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	G	NM_002891	Silent	79327552	-1	no_errors	ENST00000419573	ensembl	human	known	70_37	silent	SNP	0.908	A	A	79327552	G	A	79327552	5	1	154	1	0	0	0	0	0	0	1	0	13102	1101	38	2	3034	2	RASGRF1	15	79327552	Splice_Site	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	840623	79327552	23203840	299	27717										
NTRK3	4916	genome.wustl.edu	37	chr15	88680693	88680693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagccatcagcgttgatgcaGtagaggttctggctgttgag	15	7	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:88680693G>A	ENST00000360948.2	-	6	725	c.564C>T	c.(562-564)taC>taT	p.Y188Y	NTRK3_ENST00000542733.2_Silent_p.Y90Y|NTRK3_ENST00000558676.1_Silent_p.Y188Y|NTRK3_ENST00000540489.2_Silent_p.Y188Y|NTRK3_ENST00000557856.1_Silent_p.Y188Y|NTRK3_ENST00000355254.2_Silent_p.Y188Y|NTRK3_ENST00000394480.2_Silent_p.Y188Y|NTRK3_ENST00000357724.2_Silent_p.Y188Y|NTRK3_ENST00000317501.3_Silent_p.Y188Y	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	188	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CGTTGATGCAGTAGAGGTTCT	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													140	105	117					15																	88680693		2201	4299	6500	SO:0001819	synonymous_variant	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.564C>T	15.37:g.88680693G>A			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y188	ENST00000360948.2	37	c.564	CCDS32322.1	15																																																																																			NTRK3	-	smart_Cys-rich_flank_reg_C		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		G			88680693	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	silent	SNP	1.000	A	A	88680693	G	A	88680693	2	1	154	1	0	0	0	0	0	0	0	1	10732	1024	36	4		4	NTRK3	15	88680693	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	9353141	88680693	13850699	300	27718										
IQGAP1	8826	genome.wustl.edu	37	chr15	90983760	90983760	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaatcaacaacatgaagactGagttggagaagtatggcatc	10	6	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:90983760G>A	ENST00000268182.5	+	7	686	c.562G>A	c.(562-564)Gag>Aag	p.E188K	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	188					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATGAAGACTGAGTTGGAGAA	0.428																																																	0													61	54	57					15																	90983760		2195	4287	6482	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.562G>A	15.37:g.90983760G>A	ENSP00000268182:p.Glu188Lys		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E188K	ENST00000268182.5	37	c.562	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.010364	0.97200	.	.	ENSG00000140575	ENST00000268182	T	0.42131	0.98	5.49	5.49	0.81192	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66135	-0.5999	10	0.15499	T	0.54	-30.8544	18.5489	0.91056	0.0:0.0:1.0:0.0	.	188	P46940	IQGA1_HUMAN	K	188	ENSP00000268182:E188K	ENSP00000268182:E188K	E	+	1	0	IQGAP1	88784764	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.563000	0.98148	2.857000	0.98124	0.650000	0.86243	GAG	IQGAP1	-	superfamily_CH-domain		0.428	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90983760	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90983760	G	A	90983760	3	1	154	1	0	0	0	0	1	0	0	0	7834	1291	45	1	588	1	IQGAP1	15	90983760	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2303067	90983760	11547632	301	27719										
NR2F2	7026	genome.wustl.edu	37	chr15	96880846	96880846	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actggccgtatatggcaattCaataaataaataaaataaga	6	5	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr15:96880846C>T	ENST00000394166.3	+	3	2629	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	414	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TATGGCAATTCAATAAATAAA	0.378																																																	0													59	66	63					15																	96880846		2197	4298	6495	SO:0001587	stop_gained	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1240C>T	15.37:g.96880846C>T	ENSP00000377721:p.Gln414*		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.Q414*	ENST00000394166.3	37	c.1240	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	C	41	8.976000	0.99023	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9156	0.97061	0.0:1.0:0.0:0.0	.	.	.	.	X	281;414;261;261	.	ENSP00000377721:Q414X	Q	+	1	0	NR2F2	94681850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.698000	0.92095	0.650000	0.86243	CAA	NR2F2	-	NULL		0.378	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	C			96880846	1	no_errors	ENST00000394166	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	96880846	C	T	96880846	4	4	154	1	0	0	0	0	0	1	0	0	10652	827	29	1	1297	1	NR2F2	15	96880846	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	5897086	96880846	5650546	302	27720										
WFIKKN1	117166	genome.wustl.edu	37	chr16	683820	683820	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aaggatgacaagatgggcctCaagttcttgggcaccaagta	12	8	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:683820C>T	ENST00000319070.2	+	2	1732	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	470	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGATGGGCCTCAAGTTCTTGG	0.687																																																	0													76	42	53					16																	683820		2177	4292	6469	SO:0001819	synonymous_variant	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1410C>T	16.37:g.683820C>T			Q7LDW0|Q8NBQ1|Q96S20	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.L470	ENST00000319070.2	37	c.1410	CCDS10414.1	16																																																																																			WFIKKN1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain		0.687	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	C	NM_053284		683820	1	no_errors	ENST00000319070	ensembl	human	known	70_37	silent	SNP	1.000	T	T	683820	C	T	683820	2	4	154	1	0	0	0	0	0	0	0	1	17389	813	29	1		1	WFIKKN1	16	683820	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		683820	89670933	303	27721										
FBXL16	146330	genome.wustl.edu	37	chr16	744329	744329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagaaatacttgaagagctcGggggtggccccggggcagtt	17	8	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:744329G>A	ENST00000397621.1	-	6	1717	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	LA16c-313D11.12_ENST00000566927.1_RNA|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Silent_p.P250P|FBXL16_ENST00000324361.5_Silent_p.P462P	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	462										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TGAAGAGCTCGGGGGTGGCCC	0.711																																																	0													8	11	10					16																	744329		2127	4187	6314	SO:0001819	synonymous_variant	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.1386C>T	16.37:g.744329G>A			B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.P462	ENST00000397621.1	37	c.1386	CCDS10421.1	16																																																																																			FBXL16	-	NULL		0.711	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	G	NM_153350		744329	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	silent	SNP	0.944	A	A	744329	G	A	744329	2	1	154	1	0	0	0	0	0	0	0	1	5730	1103	39	2		2	FBXL16	16	744329	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	60509	744329	89610424	304	27722										
MSLNL	401827	genome.wustl.edu	37	chr16	822892	822892	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccacccaggtgccctcacctCtgtctggttctccagggcca	9	18	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:822892C>T	ENST00000442466.1	-	10	1239	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.E765K			Q96KJ4	MSLNL_HUMAN	mesothelin-like	414					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCCCTCACCTCTGTCTGGTTC	0.682																																																	0													24	27	26					16																	822892		1960	4141	6101	SO:0001583	missense	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1240G>A	16.37:g.822892C>T	ENSP00000415767:p.Glu414Lys			Missense_Mutation	SNP	pfam_Mesothelin	p.E765K	ENST00000442466.1	37	c.2293		16	.	.	.	.	.	.	.	.	.	.	C	6.883	0.532401	0.13127	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11063	2.81;2.81;2.81	5.05	2.85	0.33270	.	0.176957	0.36815	N	0.002381	T	0.11110	0.0271	.	.	.	0.27774	N	0.94341	P	0.42941	0.794	B	0.42882	0.401	T	0.08493	-1.0719	9	0.32370	T	0.25	-19.6349	12.4956	0.55927	0.0:0.6569:0.3431:0.0	.	414	Q96KJ4	MSLNL_HUMAN	K	464;414;765	ENSP00000441381:E464K;ENSP00000415767:E414K;ENSP00000293892:E765K	ENSP00000293892:E765K	E	-	1	0	MSLNL	762893	0.917000	0.31117	0.716000	0.30569	0.811000	0.45836	1.682000	0.37628	1.101000	0.41535	0.543000	0.68304	GAG	MSLNL	-	pfam_Mesothelin		0.682	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		C	NM_001025190		822892	-1	no_errors	ENST00000293892	ensembl	human	known	70_37	missense	SNP	0.576	T	T	822892	C	T	822892	3	4	154	1	0	0	0	0	1	0	0	0	9905	922	32	1	892	1	MSLNL	16	822892	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	78563	822892	89531861	305	27723										
CACNA1H	8912	genome.wustl.edu	37	chr16	1262079	1262079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtgccggcagcaccaggaggCggaggaggcgcggcggcgag	22	11	0	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:1262079C>T	ENST00000348261.5	+	25	4948	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1567					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CACCAGGAGGCGGAGGAGGCG	0.657																																																	0													118	123	121					16																	1262079		2143	4239	6382	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4700C>T	16.37:g.1262079C>T	ENSP00000334198:p.Ala1567Val		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.A1567V	ENST00000348261.5	37	c.4700	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345911	0.61073	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96651	-4.08;-4.02	4.13	4.13	0.48395	.	0.206590	0.40469	N	0.001083	D	0.92996	0.7771	N	0.14661	0.345	0.37608	D	0.920811	D;P;B;P;B	0.67145	0.996;0.792;0.449;0.744;0.274	P;B;B;B;B	0.50082	0.63;0.126;0.029;0.119;0.177	D	0.92697	0.6171	10	0.23302	T	0.38	.	15.9029	0.79397	0.0:1.0:0.0:0.0	.	308;308;308;1567;1567	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	V	1567	ENSP00000334198:A1567V;ENSP00000351401:A1567V	ENSP00000334198:A1567V	A	+	2	0	CACNA1H	1202080	1.000000	0.71417	0.941000	0.38009	0.961000	0.63080	5.702000	0.68332	2.285000	0.76669	0.467000	0.42956	GCG	CACNA1H	-	prints_VDCC_T_a1su		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1262079	1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	0.991	T	T	1262079	C	T	1262079	3	4	154	1	0	0	0	0	1	0	0	0	2550	768	27	2	4794	2	CACNA1H	16	1262079	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	439187	1262079	89092674	306	27724										
TSC2	7249	genome.wustl.edu	37	chr16	2136841	2136841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtccattgtctacaatgactCcggtgaggacttcaagcttg	10	10	2	2	rs45517383|rs137854272		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:2136841C>T	ENST00000219476.3	+	38	5588	c.4958C>T	c.(4957-4959)tCc>tTc	p.S1653F	TSC2_ENST00000439673.2_Missense_Mutation_p.S1550F|TSC2_ENST00000382538.6_Missense_Mutation_p.S1538F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1610F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1586F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1597F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1630F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1653	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.		S -> F (in TSC2). {ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TACAATGACTCCGGTGAGGAC	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0			GRCh37	CM040809	TSC2	M	rs45517383						73	53	60					16																	2136841		2194	4290	6484	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4958C>T	16.37:g.2136841C>T	ENSP00000219476:p.Ser1653Phe		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.S1653F	ENST00000219476.3	37	c.4958	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543660	0.65198	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	5.09	5.09	0.68999	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.995;1.0;0.997;0.997;0.999	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.997;0.999;0.997;0.997;0.998	D	0.98633	1.0672	10	0.87932	D	0	-18.3923	18.4919	0.90851	0.0:1.0:0.0:0.0	rs45517383	1538;1550;1630;428;1609;1586;1653	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	F	1653;1587;1610;1550;1538;1630	ENSP00000219476:S1653F;ENSP00000248099:S1610F;ENSP00000399232:S1550F;ENSP00000371978:S1538F;ENSP00000344383:S1630F	ENSP00000219476:S1653F	S	+	2	0	TSC2	2076842	1.000000	0.71417	0.580000	0.28601	0.025000	0.11179	7.748000	0.85085	2.368000	0.80403	0.549000	0.68633	TCC	TSC2	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2136841	1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2136841	C	T	2136841	3	4	154	1	0	0	0	0	1	0	0	0	16637	855	30	1	5104	1	TSC2	16	2136841	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	874762	2136841	88217912	307	27725										
SRL	6345	genome.wustl.edu	37	chr16	4242627	4242627	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcgatcacctgattcaggtCttctaggagggagatctctt	10	10	5	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:4242627C>T	ENST00000399609.3	-	6	961	c.949G>A	c.(949-951)Gac>Aac	p.D317N	SRL_ENST00000537996.1_Missense_Mutation_p.D275N	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	776	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TGATTCAGGTCTTCTAGGAGG	0.557																																																	0													102	109	107					16																	4242627		2057	4193	6250	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.949G>A	16.37:g.4242627C>T	ENSP00000382518:p.Asp317Asn			Missense_Mutation	SNP	pfam_Dynamin_GTPase,pfam_GTP_binding_domain	p.D317N	ENST00000399609.3	37	c.949	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654010	0.88056	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.95137	-3.62;-3.62	5.44	4.5	0.54988	.	0.061259	0.64402	U	0.000008	D	0.96703	0.8924	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	D	0.97226	0.9881	10	0.87932	D	0	-26.5993	14.3365	0.66595	0.0:0.9292:0.0:0.0708	.	317	Q86TD4-2	.	N	317;775;275	ENSP00000382518:D317N;ENSP00000440350:D275N	ENSP00000333285:D775N	D	-	1	0	SRL	4182628	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	1.529000	0.49120	0.655000	0.94253	GAC	SRL	-	NULL		0.557	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	C	XM_064152		4242627	-1	no_errors	ENST00000399609	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4242627	C	T	4242627	3	4	154	1	0	0	0	0	1	0	0	0	15180	913	32	1	476	1	SRL	16	4242627	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2105786	4242627	86112126	308	27726										
MGRN1	23295	genome.wustl.edu	37	chr16	4674988	4674988	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tccattctcagccgccgcatCgcgggggtggaggacatcga	14	13	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:4674988C>G	ENST00000399577.5	+	1	120	c.27C>G	c.(25-27)atC>atG	p.I9M	MGRN1_ENST00000415496.1_Missense_Mutation_p.I9M|MGRN1_ENST00000262370.7_Missense_Mutation_p.I9M|MGRN1_ENST00000586183.1_Missense_Mutation_p.I9M|MGRN1_ENST00000588994.1_Missense_Mutation_p.I9M	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	9					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCGCCGCATCGCGGGGGTGG	0.736																																																	0													14	19	17					16																	4674988		1942	4117	6059	SO:0001583	missense	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.27C>G	16.37:g.4674988C>G	ENSP00000382487:p.Ile9Met		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.I9M	ENST00000399577.5	37	c.27	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000017	0.74818	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	3.97	0.573	0.17363	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.47716	1.5	0.50039	D	0.999848	D;D;D;D;D;D	0.89917	1.0;0.999;0.977;0.998;0.999;1.0	D;D;P;D;D;D	0.91635	0.999;0.98;0.772;0.956;0.974;0.999	T	0.12066	-1.0562	10	0.34782	T	0.22	-18.137	5.4289	0.16442	0.0:0.6276:0.1606:0.2118	.	9;9;9;9;9;9	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	M	9	ENSP00000262370:I9M;ENSP00000382487:I9M;ENSP00000393311:I9M;ENSP00000443810:I9M	ENSP00000262370:I9M	I	+	3	3	MGRN1	4614989	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.459000	0.35234	-0.039000	0.13602	-0.339000	0.08088	ATC	MGRN1	-	NULL		0.736	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4674988	1	no_errors	ENST00000262370	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4674988	C	G	4674988	3	3	154	1	0	0	0	0	1	0	0	0	9582	874	31	1	29	1	MGRN1	16	4674988	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	432361	4674988	85679765	309	27727										
ARL6IP1	23204	genome.wustl.edu	37	chr16	18804601	18804601	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttttcttttctttttgtttGagaagtttgtttatctccct	5	6	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:18804601G>C	ENST00000304414.7	-	6	796	c.585C>G	c.(583-585)ctC>ctG	p.L195L	ARL6IP1_ENST00000562819.1_Silent_p.L80L|ARL6IP1_ENST00000546206.2_Silent_p.L166L|RPS15A_ENST00000322989.4_5'Flank|RPS15A_ENST00000563390.1_5'Flank|RP11-1035H13.3_ENST00000567078.2_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	195					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CTTTTTGTTTGAGAAGTTTGT	0.383																																																	0													79	78	78					16																	18804601		2197	4300	6497	SO:0001819	synonymous_variant	23204			BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"ADP-ribosylation factor-like 6 interacting protein"	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.585C>G	16.37:g.18804601G>C				Silent	SNP	pfam_Reticulon	p.L195	ENST00000304414.7	37	c.585	CCDS10572.1	16																																																																																			ARL6IP1	-	NULL		0.383	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP1	HGNC	protein_coding	OTTHUMT00000254156.2	G	NM_015161		18804601	-1	no_errors	ENST00000304414	ensembl	human	known	70_37	silent	SNP	1.000	C	C	18804601	G	C	18804601	2	2	154	1	0	0	0	0	0	0	0	1	943	1277	45	1		1	ARL6IP1	16	18804601	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	14129613	18804601	71550152	310	27728										
UMOD	7369	genome.wustl.edu	37	chr16	20348020	20348020	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgggattgatctatgacactCccacttcggaatctggtccc	9	13	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:20348020C>T	ENST00000570689.1	-	9	1916	c.1770G>A	c.(1768-1770)ggG>ggA	p.G590G	UMOD_ENST00000302509.4_Silent_p.G590G|UMOD_ENST00000396138.4_Silent_p.G639G|UMOD_ENST00000424589.1_Silent_p.G623G|UMOD_ENST00000396134.2_Silent_p.G623G|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Silent_p.G590G			P07911	UROM_HUMAN	uromodulin	590					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTATGACACTCCCACTTCGGA	0.527																																																	0													107	88	94					16																	20348020		2203	4300	6503	SO:0001819	synonymous_variant	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1770G>A	16.37:g.20348020C>T			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.G623	ENST00000570689.1	37	c.1869	CCDS10583.1	16																																																																																			UMOD	-	NULL		0.527	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	C			20348020	-1	no_errors	ENST00000424589	ensembl	human	known	70_37	silent	SNP	0.037	T	T	20348020	C	T	20348020	2	4	154	1	0	0	0	0	0	0	0	1	17010	842	30	1		1	UMOD	16	20348020	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1543419	20348020	70006733	311	27729										
PDILT	204474	genome.wustl.edu	37	chr16	20380942	20380942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gacggatgggatatcgacctCtgtgacccggaagtacttga	13	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:20380942C>T	ENST00000302451.4	-	8	1236	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	330					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATATCGACCTCTGTGACCCGG	0.458																																																	0													177	172	174					16																	20380942		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.988G>A	16.37:g.20380942C>T	ENSP00000305465:p.Glu330Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E330K	ENST00000302451.4	37	c.988	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.639444	0.00799	.	.	ENSG00000169340	ENST00000302451	T	0.14640	2.49	4.9	1.62	0.23740	Thioredoxin-like fold (1);	0.748266	0.12804	N	0.437752	T	0.11324	0.0276	L	0.56769	1.78	0.09310	N	1	B	0.22211	0.066	B	0.22880	0.042	T	0.40924	-0.9537	10	0.09084	T	0.74	.	5.5077	0.16864	0.1722:0.6411:0.0:0.1866	.	330	Q8N807	PDILT_HUMAN	K	330	ENSP00000305465:E330K	ENSP00000305465:E330K	E	-	1	0	PDILT	20288443	0.030000	0.19436	0.004000	0.12327	0.180000	0.23129	1.524000	0.35942	0.638000	0.30545	0.563000	0.77884	GAG	PDILT	-	superfamily_Thioredoxin-like_fold		0.458	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20380942	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.000	T	T	20380942	C	T	20380942	3	4	154	1	0	0	0	0	1	0	0	0	11698	922	32	1	786	1	PDILT	16	20380942	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	32922	20380942	69973811	312	27730										
ZP2	7783	genome.wustl.edu	37	chr16	21218209	21218209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgctgaaagcccctgggtctCttctacttgcatagctggac	10	12	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:21218209C>T	ENST00000574002.1	-	6	915	c.433G>A	c.(433-435)Gag>Aag	p.E145K	ZP2_ENST00000574091.1_Missense_Mutation_p.E145K|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.E145K			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	145					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCCTGGGTCTCTTCTACTTGC	0.502																																																	0													187	171	177					16																	21218209		2199	4300	6499	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.433G>A	16.37:g.21218209C>T	ENSP00000460971:p.Glu145Lys		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E145K	ENST00000574002.1	37	c.433	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505881	0.64410	.	.	ENSG00000103310	ENST00000219593	T	0.78364	-1.17	3.67	1.57	0.23409	.	0.774576	0.11945	N	0.514327	T	0.78162	0.4240	M	0.75264	2.295	0.09310	N	1	P;P;P	0.51537	0.946;0.908;0.847	P;P;B	0.48840	0.592;0.521;0.293	T	0.67436	-0.5671	10	0.72032	D	0.01	0.3648	4.5188	0.11949	0.0:0.5976:0.2617:0.1407	.	145;145;145	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	K	145	ENSP00000219593:E145K	ENSP00000219593:E145K	E	-	1	0	ZP2	21125710	0.002000	0.14202	0.002000	0.10522	0.870000	0.49936	-0.055000	0.11807	0.297000	0.22615	0.591000	0.81541	GAG	ZP2	-	NULL		0.502	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	C			21218209	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	missense	SNP	0.001	T	T	21218209	C	T	21218209	3	4	154	1	0	0	0	0	1	0	0	0	18246	922	32	1	1864	1	ZP2	16	21218209	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	837267	21218209	69136544	313	27731										
GTF3C1	2975	genome.wustl.edu	37	chr16	27480781	27480781	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgggaggcttgcgcaggtttCacctccatgctccggcgctt	13	13	1	0	rs11551766		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:27480781C>T	ENST00000356183.4	-	32	4920	c.4905G>A	c.(4903-4905)gtG>gtA	p.V1635V	GTF3C1_ENST00000561623.1_Silent_p.V1635V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1635					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGCAGGTTTCACCTCCATGC	0.602																																																	0													172	135	147					16																	27480781		2197	4300	6497	SO:0001819	synonymous_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4905G>A	16.37:g.27480781C>T			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	pfam_TFIIIC_Bblock-bd	p.V1635	ENST00000356183.4	37	c.4905	CCDS32414.1	16																																																																																			GTF3C1	-	NULL		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27480781	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27480781	C	T	27480781	2	4	154	1	0	0	0	0	0	0	0	1	6892	813	29	1		1	GTF3C1	16	27480781	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6262572	27480781	62873972	314	27732										
FBXL19	54620	genome.wustl.edu	37	chr16	30937143	30937143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacccgctgccgccgctgccGggcctgtgtgcgaactgagt	14	15	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:30937143G>A	ENST00000380310.2	+	2	286	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	FBXL19-AS1_ENST00000563777.1_RNA|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Missense_Mutation_p.R23Q|FBXL19_ENST00000565690.1_Missense_Mutation_p.R23Q|FBXL19_ENST00000338343.4_Missense_Mutation_p.R23Q	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	43	Arg-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCCGCTGCCGGGCCTGTGTG	0.716																																																	0													6	8	7					16																	30937143		1858	4029	5887	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.128G>A	16.37:g.30937143G>A	ENSP00000369666:p.Arg43Gln		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R43Q	ENST00000380310.2	37	c.128	CCDS45465.1	16	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861966	0.71949	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.20881	2.04;2.36	5.15	3.19	0.36642	Zinc finger, CXXC-type (2);	0.422740	0.18638	U	0.135367	T	0.12433	0.0302	N	0.19112	0.55	0.22330	N	0.999191	B	0.19331	0.035	B	0.10450	0.005	T	0.20140	-1.0284	10	0.49607	T	0.09	-4.0721	6.8583	0.24052	0.3577:0.0:0.6423:0.0	.	43	Q6PCT2	FXL19_HUMAN	Q	23;43	ENSP00000339712:R23Q;ENSP00000369666:R43Q	ENSP00000339712:R23Q	R	+	2	0	FBXL19	30844644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.091000	0.71406	0.560000	0.29169	0.462000	0.41574	CGG	FBXL19	-	pfam_Znf_CXXC,pfscan_Znf_CXXC		0.716	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	HGNC	protein_coding		G	NM_019085		30937143	1	no_errors	ENST00000380310	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30937143	G	A	30937143	3	1	154	1	0	0	0	0	1	0	0	0	5733	1116	39	2	134	2	FBXL19	16	30937143	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3456362	30937143	59417610	315	27733										
ZNF668	79759	genome.wustl.edu	37	chr16	31072775	31072775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caagggaccaggagcctcccGgacaccagcatcttggcatt	11	14	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:31072775G>A	ENST00000538906.1	-	3	2258	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	ZNF668_ENST00000300849.4_Missense_Mutation_p.R492W|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R515W|ZNF668_ENST00000394983.2_Missense_Mutation_p.R492W|ZNF668_ENST00000539836.3_Missense_Mutation_p.R515W|ZNF668_ENST00000535577.1_Missense_Mutation_p.R492W	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGAGCCTCCCGGACACCAGCA	0.652																																					Colon(181;1111 1980 5060 10512 25785)												0													65	68	67					16																	31072775		2197	4300	6497	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1474C>T	16.37:g.31072775G>A	ENSP00000440149:p.Arg492Trp		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R515W	ENST00000538906.1	37	c.1543	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	G	2.323	-0.355126	0.05138	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.15	3.07	0.35406	.	0.530450	0.17051	N	0.188931	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P	0.44260	0.83	B	0.30495	0.116	T	0.39313	-0.9620	10	0.66056	D	0.02	-15.2438	7.5318	0.27687	0.1811:0.625:0.1939:0.0	.	492	Q96K58	ZN668_HUMAN	W	515;492;492;492;492	ENSP00000442573:R515W;ENSP00000441349:R492W;ENSP00000440149:R492W;ENSP00000378434:R492W;ENSP00000300849:R492W	ENSP00000300849:R492W	R	-	1	2	ZNF668	30980276	0.545000	0.26449	0.077000	0.20336	0.003000	0.03518	-0.315000	0.08081	1.181000	0.42912	-0.311000	0.09066	CGG	ZNF668	-	NULL		0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	G	NM_024706		31072775	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	missense	SNP	0.163	A	A	31072775	G	A	31072775	3	1	154	1	0	0	0	0	1	0	0	0	18105	1115	39	2	389	2	ZNF668	16	31072775	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	135632	31072775	59281978	316	27734										
RBL2	5934	genome.wustl.edu	37	chr16	53503923	53503923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttgagaatgatagcccctctGatggagggacgcctgggcgc	15	10	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:53503923G>A	ENST00000262133.6	+	15	2208	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	691	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAGCCCCTCTGATGGAGGGAC	0.547																																																	0													78	78	78					16																	53503923		2198	4300	6498	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2071G>A	16.37:g.53503923G>A	ENSP00000262133:p.Asp691Asn		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,smart_Cyclin-like	p.D691N	ENST00000262133.6	37	c.2071	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150213	0.57151	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.89552	-2.53	5.87	5.87	0.94306	.	0.307749	0.37857	N	0.001915	D	0.86822	0.6025	L	0.47716	1.5	0.80722	D	1	B;B;B	0.27559	0.003;0.043;0.181	B;B;B	0.24155	0.004;0.039;0.051	T	0.82502	-0.0425	10	0.40728	T	0.16	-12.5148	20.2032	0.98269	0.0:0.0:1.0:0.0	.	691;401;691	Q8NE70;E9PG04;Q08999	.;.;RBL2_HUMAN	N	691;401	ENSP00000262133:D691N	ENSP00000262133:D691N	D	+	1	0	RBL2	52061424	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.531000	0.73820	2.785000	0.95823	0.650000	0.86243	GAT	RBL2	-	NULL		0.547	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	G	NM_005611		53503923	1	no_errors	ENST00000262133	ensembl	human	known	70_37	missense	SNP	0.998	A	A	53503923	G	A	53503923	3	1	154	1	0	0	0	0	1	0	0	0	13140	1290	45	1	2129	1	RBL2	16	53503923	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	22431148	53503923	36850830	317	27735										
FHOD1	29109	genome.wustl.edu	37	chr16	67264035	67264035	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cagactcttcatactagcatGactgtcagcatctccccggc	7	15	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:67264035G>T	ENST00000258201.4	-	20	3395	c.3148C>A	c.(3148-3150)Cat>Aat	p.H1050N		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1050					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATACTAGCATGACTGTCAGCA	0.617																																																	0													91	93	92					16																	67264035		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3148C>A	16.37:g.67264035G>T	ENSP00000258201:p.His1050Asn		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.H1050N	ENST00000258201.4	37	c.3148	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680807	0.29872	.	.	ENSG00000135723	ENST00000258201	T	0.37584	1.19	5.09	4.09	0.47781	Actin-binding FH2/DRF autoregulatory (1);	0.048302	0.85682	D	0.000000	T	0.41442	0.1159	M	0.73598	2.24	0.25719	N	0.985399	B	0.29301	0.241	B	0.32533	0.147	T	0.45220	-0.9276	10	0.62326	D	0.03	.	13.3481	0.60587	0.0:0.1719:0.8281:0.0	.	1050	Q9Y613	FHOD1_HUMAN	N	1050	ENSP00000258201:H1050N	ENSP00000258201:H1050N	H	-	1	0	FHOD1	65821536	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.007000	0.57093	2.656000	0.90262	0.561000	0.74099	CAT	FHOD1	-	smart_Actin-bd_FH2/DRF_autoreg		0.617	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	G			67264035	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.055	T	T	67264035	G	T	67264035	3	4	154	1	0	0	0	0	1	0	0	0	5900	1290	45	3	358	3	FHOD1	16	67264035	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	13760112	67264035	23090718	318	27736										
FHOD1	29109	genome.wustl.edu	37	chr16	67264118	67264118	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gggcttccccagccacacctGagaacttctctgtctggaga	10	14	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:67264118G>C	ENST00000258201.4	-	20	3312	c.3065C>G	c.(3064-3066)tCa>tGa	p.S1022*		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1022					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCCACACCTGAGAACTTCTC	0.582																																																	0													43	48	46					16																	67264118		2197	4300	6497	SO:0001587	stop_gained	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3065C>G	16.37:g.67264118G>C	ENSP00000258201:p.Ser1022*		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Nonsense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S1022*	ENST00000258201.4	37	c.3065	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.998185	0.99031	.	.	ENSG00000135723	ENST00000258201	.	.	.	5.85	4.89	0.63831	.	0.122937	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	13.4068	0.60917	0.0:0.0:0.8426:0.1574	.	.	.	.	X	1022	.	ENSP00000258201:S1022X	S	-	2	0	FHOD1	65821619	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	4.212000	0.58514	1.449000	0.47699	0.561000	0.74099	TCA	FHOD1	-	smart_Actin-bd_FH2/DRF_autoreg		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	G			67264118	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	nonsense	SNP	0.541	C	C	67264118	G	C	67264118	4	2	154	1	0	0	0	0	0	1	0	0	5900	1294	45	1	441	1	FHOD1	16	67264118	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	83	67264118	23090635	319	27737										
C16orf48	84080	genome.wustl.edu	37	chr16	67697103	67697103	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagactttgggccgagaaaaGatcttgatggcctcctctac	10	10	2	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:67697103G>C	ENST00000243878.4	-	7	1323	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602644.1_3'UTR|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	334	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											GCCGAGAAAAGATCTTGATGG	0.597																																																	0													96	79	85					16																	67697103		2198	4300	6498	SO:0001583	missense	84080			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.1002C>G	16.37:g.67697103G>C	ENSP00000243878:p.Ile334Met		Q6UWD7	Missense_Mutation	SNP	NULL	p.I334M	ENST00000243878.4	37	c.1002	CCDS10844.1	16	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930490	0.52866	.	.	ENSG00000124074	ENST00000243878	.	.	.	5.38	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.82823	2.61	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.66752	-0.5844	9	0.34782	T	0.22	0.0053	4.2784	0.10820	0.2299:0.0:0.5098:0.2603	.	334;216	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	M	334	.	ENSP00000243878:I334M	I	-	3	3	C16orf48	66254604	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	0.726000	0.25984	0.650000	0.30769	-0.254000	0.11334	ATC	ENKD1	-	NULL		0.597	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENKD1	HGNC	protein_coding	OTTHUMT00000268884.1	G	NM_032140		67697103	-1	no_errors	ENST00000243878	ensembl	human	known	70_37	missense	SNP	0.999	C	C	67697103	G	C	67697103	3	2	154	1	0	0	0	0	1	0	0	0	1820	932	33	1	42	1	C16orf48	16	67697103	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	432985	67697103	22657650	320	27738										
CENPT	80152	genome.wustl.edu	37	chr16	67863860	67863860	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttccatctttttctctgcctCttcaactccatcgtgtaagg	5	13	4	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:67863860C>G	ENST00000562787.1	-	12	1542	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	CENPT_ENST00000440851.2_Missense_Mutation_p.E332Q|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Missense_Mutation_p.E332Q|CENPT_ENST00000219172.3_Missense_Mutation_p.E332Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	332	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TTCTCTGCCTCTTCAACTCCA	0.527																																																	0													256	255	255					16																	67863860		2065	4215	6280	SO:0001583	missense	80152			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.994G>C	16.37:g.67863860C>G	ENSP00000457810:p.Glu332Gln		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	superfamily_Histone-fold	p.E332Q	ENST00000562787.1	37	c.994	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532863	0.64972	.	.	ENSG00000102901	ENST00000440851;ENST00000436104;ENST00000219172	T;T	0.48836	0.8;0.8	4.36	-0.0208	0.13954	.	0.784106	0.11010	N	0.609546	T	0.38134	0.1029	M	0.63428	1.95	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.18561	0.022;0.008;0.008	T	0.31833	-0.9929	10	0.21014	T	0.42	1.3842	4.4229	0.11490	0.0:0.4934:0.1919:0.3147	.	90;332;332	F5H5A6;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	Q	332;90;332	ENSP00000400140:E332Q;ENSP00000219172:E332Q	ENSP00000219172:E332Q	E	-	1	0	CENPT	66421361	0.010000	0.17322	0.000000	0.03702	0.570000	0.35934	0.440000	0.21592	-0.169000	0.10834	0.563000	0.77884	GAG	CENPT	-	NULL		0.527	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1	C	NM_025082		67863860	-1	no_errors	ENST00000219172	ensembl	human	known	70_37	missense	SNP	0.000	G	G	67863860	C	G	67863860	3	3	154	1	0	0	0	0	1	0	0	0	3247	922	32	1	711	1	CENPT	16	67863860	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	166757	67863860	22490893	321	27739										
VPS4A	27183	genome.wustl.edu	37	chr16	69354623	69354623	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acaatgatgggactctggttCttggagccacaaacatccca	9	11	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:69354623C>T	ENST00000254950.11	+	8	958	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	COG8_ENST00000564419.1_5'UTR	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GACTCTGGTTCTTGGAGCCAC	0.562																																																	0													35	39	38					16																	69354623		1985	4163	6148	SO:0001583	missense	27183			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.802C>T	16.37:g.69354623C>T	ENSP00000254950:p.Leu268Phe			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.L268F	ENST00000254950.11	37	c.802	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535929	0.85812	.	.	ENSG00000132612	ENST00000254950	D	0.95482	-3.72	5.77	5.77	0.91146	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.054353	0.64402	D	0.000001	D	0.97213	0.9089	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96814	0.9599	10	0.87932	D	0	-18.965	9.2449	0.37520	0.0:0.8459:0.0:0.1541	.	268	Q9UN37	VPS4A_HUMAN	F	268	ENSP00000254950:L268F	ENSP00000254950:L268F	L	+	1	0	VPS4A	67912124	0.860000	0.29831	0.997000	0.53966	0.958000	0.62258	1.744000	0.38268	2.884000	0.98904	0.655000	0.94253	CTT	VPS4A	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.562	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	C	NM_013245		69354623	1	no_errors	ENST00000254950	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69354623	C	T	69354623	3	4	154	1	0	0	0	0	1	0	0	0	17243	913	32	1	832	1	VPS4A	16	69354623	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1490763	69354623	21000130	322	27740										
SF3B3	23450	genome.wustl.edu	37	chr16	70590890	70590890	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagcaggatgagctgggtgaGaggggctcgattggcttcct	17	7	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:70590890G>A	ENST00000302516.5	+	15	2179	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	656					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGCTGGGTGAGAGGGGCTCGA	0.522																																																	0													124	115	118					16																	70590890		2198	4300	6498	SO:0001819	synonymous_variant	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1968G>A	16.37:g.70590890G>A			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.E656	ENST00000302516.5	37	c.1968	CCDS10894.1	16																																																																																			SF3B3	-	superfamily_WD40_repeat_dom		0.522	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	G	NM_012426		70590890	1	no_errors	ENST00000302516	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70590890	G	A	70590890	2	1	154	1	0	0	0	0	0	0	0	1	14182	933	33	1		1	SF3B3	16	70590890	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1236267	70590890	19763863	323	27741										
CALB2	794	genome.wustl.edu	37	chr16	71408656	71408656	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtctttccacagatgtcaaaGagtgacaactttggagaaaa	9	7	2	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:71408656G>C	ENST00000302628.4	+	3	257	c.180G>C	c.(178-180)aaG>aaC	p.K60N	CALB2_ENST00000349553.5_Missense_Mutation_p.K60N	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	60					cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGATGTCAAAGAGTGACAACT	0.453																																																	0													76	70	72					16																	71408656		2198	4300	6498	SO:0001583	missense	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.180G>C	16.37:g.71408656G>C	ENSP00000307508:p.Lys60Asn		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K60N	ENST00000302628.4	37	c.180	CCDS10899.1	16	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816634	0.16607	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	D;D	0.81908	-1.55;-1.54	5.49	4.53	0.55603	EF-hand-like domain (1);	0.171042	0.51477	D	0.000094	T	0.72930	0.3522	N	0.25647	0.755	0.31339	N	0.683919	P;B	0.41080	0.737;0.326	B;B	0.40782	0.34;0.222	T	0.70234	-0.4928	10	0.21540	T	0.41	-33.453	11.4132	0.49937	0.1581:0.0:0.8419:0.0	.	60;60	A6NER6;P22676	.;CALB2_HUMAN	N	60	ENSP00000340294:K60N;ENSP00000307508:K60N	ENSP00000307508:K60N	K	+	3	2	CALB2	69966157	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.439000	0.44846	0.691000	0.31592	-0.797000	0.03246	AAG	CALB2	-	NULL		0.453	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	HGNC	protein_coding	OTTHUMT00000268988.1	G	NM_001740		71408656	1	no_errors	ENST00000302628	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71408656	G	C	71408656	3	2	154	1	0	0	0	0	1	0	0	0	2579	933	33	1	190	1	CALB2	16	71408656	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	817766	71408656	18946097	324	27742										
GLG1	2734	genome.wustl.edu	37	chr16	74537580	74537580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gatactcagtgatgttgcctCggtgatccaccaagcaggaa	11	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:74537580C>T	ENST00000422840.2	-	4	622	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GLG1_ENST00000447066.2_Missense_Mutation_p.R197Q|GLG1_ENST00000205061.5_Missense_Mutation_p.R208Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	208					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GATGTTGCCTCGGTGATCCAC	0.413																																																	0													194	168	176					16																	74537580		2198	4300	6498	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.623G>A	16.37:g.74537580C>T	ENSP00000405984:p.Arg208Gln		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.R208Q	ENST00000422840.2	37	c.623	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.620247	0.96660	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.77018	0.4069	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.66979	0.948;0.749;0.788	T	0.76623	-0.2891	9	0.48119	T	0.1	-5.3672	19.27	0.94004	0.0:1.0:0.0:0.0	.	208;208;197	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	Q	208;197;208	.	ENSP00000205061:R208Q	R	-	2	0	GLG1	73095081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.723000	0.84788	2.546000	0.85860	0.591000	0.81541	CGA	GLG1	-	pfam_Cys-rich_GLG1_repeat		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201		74537580	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74537580	C	T	74537580	3	4	154	1	0	0	0	0	1	0	0	0	6455	884	31	1	3088	1	GLG1	16	74537580	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3128924	74537580	15817173	325	27743										
CNTNAP4	85445	genome.wustl.edu	37	chr16	76311603	76311604	+	Splice_Site	INS	-	-	C													0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctcaagacgctacttctgtINSatctactcaaaattggaaca							TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:76311603_76311604insC	ENST00000307431.8	+	2	427		c.e2-1		CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTACTTCTGTATCTACTCAAA	0.46																																																	0																																										SO:0001630	splice_region_variant	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000307431.8:c.43-1->C	16.37:g.76311603_76311604insC			E9PFZ6|Q86YZ7	Splice_Site	INS	-	e1+1	ENST00000307431.8	37	c.42+1_42+1		16																																																																																			CNTNAP4	-	-		0.46	CNTNAP4-201	KNOWN	basic|appris_principal	protein_coding	CNTNAP4	HGNC	protein_coding		-	NM_033401	Intron	76311604	1	no_errors	ENST00000307431	ensembl	human	known	70_37	splice_site_ins	INS	0.944:0.963	C	C	76311604	-	C	76311603	8	5	154	1	0	1	1	0	0	0	1	0	3654	1638	57	0	45	0	CNTNAP4	16	76311603	Splice_Site	INS	-	TCGA-IR-A3LL-01A-11D-A20U-09	1774023	76311603	14043150	326	27744										
CNTNAP4	85445	genome.wustl.edu	37	chr16	76486529	76486529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttctgccacttttcaatttcGaacttggaataaggcagggc	9	9	2	0	rs570306162		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:76486529G>A	ENST00000476707.1	+	7	1344	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R398Q|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R350Q|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R326Q			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	399	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.R374Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTCAATTTCGAACTTGGAAT	0.463													G|||	1	0.000199681	0	0	5008	,	,		16483	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)											99	98	99					16																	76486529		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1205G>A	16.37:g.76486529G>A	ENSP00000417628:p.Arg402Gln		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R398Q	ENST00000476707.1	37	c.1193		16	.	.	.	.	.	.	.	.	.	.	G	34	5.397475	0.96009	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34435	N	0.003965	D	0.91788	0.7402	.	.	.	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;1.0;0.996	D;D;D;D	0.78314	0.988;0.949;0.991;0.957	D	0.92081	0.5672	9	0.87932	D	0	.	19.6434	0.95767	0.0:0.0:1.0:0.0	.	326;402;374;399	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Q	398;350;326;402	ENSP00000306893:R398Q;ENSP00000439733:R350Q;ENSP00000418741:R326Q;ENSP00000417628:R402Q	ENSP00000306893:R398Q	R	+	2	0	CNTNAP4	75044030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.240000	0.95396	2.880000	0.98712	0.655000	0.94253	CGA	CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.463	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	G	NM_033401		76486529	1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76486529	G	A	76486529	3	1	154	1	0	0	0	0	1	0	0	0	3654	1058	37	1	1239	1	CNTNAP4	16	76486529	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	174926	76486529	13868224	327	27745										
NECAB2	54550	genome.wustl.edu	37	chr16	84034404	84034404	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gagacagaggaggcgtggaaGaggtgagatgctgggtcccc	19	7	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr16:84034404G>C	ENST00000305202.4	+	11	1055	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	NECAB2_ENST00000565691.1_Missense_Mutation_p.K263N	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	346	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						AGGCGTGGAAGAGGTGAGATG	0.607																																																	0													86	81	83					16																	84034404		2200	4300	6500	SO:0001583	missense	54550			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1038G>C	16.37:g.84034404G>C	ENSP00000307449:p.Lys346Asn		A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K346N	ENST00000305202.4	37	c.1038	CCDS10940.1	16	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737867	0.49045	.	.	ENSG00000103154	ENST00000305202	T	0.30981	1.51	4.03	4.03	0.46877	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.054298	0.64402	D	0.000001	T	0.46112	0.1376	L	0.60845	1.875	0.47123	D	0.999327	D	0.63880	0.993	D	0.63113	0.911	T	0.28073	-1.0055	10	0.30078	T	0.28	-12.3428	13.3819	0.60773	0.0:0.0:1.0:0.0	.	346	Q7Z6G3	NECA2_HUMAN	N	346	ENSP00000307449:K346N	ENSP00000307449:K346N	K	+	3	2	NECAB2	82591905	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	6.360000	0.73064	2.241000	0.73720	0.561000	0.74099	AAG	NECAB2	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel		0.607	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB2	HGNC	protein_coding	OTTHUMT00000269077.2	G	NM_019065		84034404	1	no_errors	ENST00000305202	ensembl	human	known	70_37	missense	SNP	1.000	C	C	84034404	G	C	84034404	3	2	154	1	0	0	0	0	1	0	0	0	10329	933	33	1	1080	1	NECAB2	16	84034404	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7547875	84034404	6320349	328	27746										
NXN	64359	genome.wustl.edu	37	chr17	729296	729296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtgatggaatgttggaaattCggtatttgttccaaagtttg	12	3	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:729296C>T	ENST00000336868.3	-	2	474	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	NXN_ENST00000575801.1_Missense_Mutation_p.R20Q|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	128					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GTTGGAAATTCGGTATTTGTT	0.453																																																	0													162	146	151					17																	729296		2203	4300	6503	SO:0001583	missense	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.383G>A	17.37:g.729296C>T	ENSP00000337443:p.Arg128Gln		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.R128Q	ENST00000336868.3	37	c.383	CCDS10998.1	17	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669013	0.67814	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.80480	-1.38	6.17	5.2	0.72013	Thioredoxin-like fold (2);	0.100502	0.64402	N	0.000002	T	0.68979	0.3060	N	0.22421	0.69	0.80722	D	1	P;P;D	0.53151	0.688;0.948;0.958	B;B;B	0.40199	0.064;0.322;0.278	T	0.68777	-0.5319	10	0.26408	T	0.33	-4.7226	16.1198	0.81342	0.1346:0.8654:0.0:0.0	.	20;15;128	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	Q	128;20	ENSP00000337443:R128Q	ENSP00000337443:R128Q	R	-	2	0	NXN	676046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.972000	0.70448	1.613000	0.50231	0.655000	0.94253	CGA	NXN	-	superfamily_Thioredoxin-like_fold		0.453	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	C			729296	-1	no_errors	ENST00000336868	ensembl	human	known	70_37	missense	SNP	1.000	T	T	729296	C	T	729296	3	4	154	1	0	0	0	0	1	0	0	0	10811	884	31	1	952	1	NXN	17	729296	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		729296	80465914	329	27747										
RPA1	6117	genome.wustl.edu	37	chr17	1782335	1782335	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcaagtggacaagttctttCctcttattgaagtgaacaag	9	7	2	2	rs201772445		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:1782335C>G	ENST00000254719.5	+	9	849	c.739C>G	c.(739-741)Cct>Gct	p.P247A	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	247					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAAGTTCTTTCCTCTTATTGA	0.557								Nucleotide excision repair (NER)																																									0													96	87	90					17																	1782335		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.739C>G	17.37:g.1782335C>G	ENSP00000254719:p.Pro247Ala		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1	p.P247A	ENST00000254719.5	37	c.739	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465833	0.43839	.	.	ENSG00000132383	ENST00000254719	T	0.20738	2.05	6.08	6.08	0.98989	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.289185	0.40144	N	0.001172	T	0.21227	0.0511	L	0.48877	1.53	0.36964	D	0.893484	B	0.20164	0.042	B	0.23275	0.045	T	0.06427	-1.0827	10	0.30078	T	0.28	-13.3574	13.8168	0.63297	0.0:0.9305:0.0:0.0695	.	247	P27694	RFA1_HUMAN	A	247	ENSP00000254719:P247A	ENSP00000254719:P247A	P	+	1	0	RPA1	1729085	0.959000	0.32827	0.936000	0.37596	0.988000	0.76386	0.734000	0.26101	2.894000	0.99253	0.591000	0.81541	CCT	RPA1	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1		0.557	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	C	NM_002945		1782335	1	no_errors	ENST00000254719	ensembl	human	known	70_37	missense	SNP	0.995	G	G	1782335	C	G	1782335	3	3	154	1	0	0	0	0	1	0	0	0	13566	855	30	1	773	1	RPA1	17	1782335	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1053039	1782335	79412875	330	27748										
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2923826	2923826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acggagtcccatcaagcgacGctcggggctcttcccccgcc	11	18	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:2923826G>T	ENST00000254695.8	+	19	1778	c.1688G>T	c.(1687-1689)cGc>cTc	p.R563L	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.R544L|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.R563L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.R548L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	563					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATCAAGCGACGCTCGGGGCTC	0.627																																																	0													30	36	34					17																	2923826		1930	4118	6048	SO:0001583	missense	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1688G>T	17.37:g.2923826G>T	ENSP00000254695:p.Arg563Leu		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP,pfscan_Rap_GAP	p.R563L	ENST00000254695.8	37	c.1688	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061007	0.76074	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.90900	-2.74;-2.73;-2.75;-2.74	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.56746	0.977;0.961	P;P	0.57720	0.826;0.674	D	0.93860	0.7153	10	0.51188	T	0.08	-18.4625	17.6561	0.88178	0.0:0.0:1.0:0.0	.	548;563	Q684P5-2;Q684P5	.;RPGP2_HUMAN	L	563;548;544;563	ENSP00000254695:R563L;ENSP00000389824:R548L;ENSP00000439688:R544L;ENSP00000444890:R563L	ENSP00000254695:R563L	R	+	2	0	RAP1GAP2	2870576	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	8.346000	0.90060	2.420000	0.82092	0.561000	0.74099	CGC	RAP1GAP2	-	NULL		0.627	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	G			2923826	1	no_errors	ENST00000542807	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2923826	G	T	2923826	3	4	154	1	0	0	0	0	1	0	0	0	13068	1087	38	2	1762	2	RAP1GAP2	17	2923826	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1141491	2923826	78271384	331	27749										
ZNF594	84622	genome.wustl.edu	37	chr17	5086046	5086046	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	attctccgatgttgaataagGagtgaacgccgcctgaaggc	12	9	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:5086046G>C	ENST00000399604.4	-	1	1646	c.1506C>G	c.(1504-1506)ctC>ctG	p.L502L	ZNF594_ENST00000575779.1_Silent_p.L502L			Q96JF6	ZN594_HUMAN	zinc finger protein 594	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTTGAATAAGGAGTGAACGCC	0.463																																																	0													67	70	69					17																	5086046		2184	4288	6472	SO:0001819	synonymous_variant	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1506C>G	17.37:g.5086046G>C			Q6RFS0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L502	ENST00000399604.4	37	c.1506	CCDS42241.1	17																																																																																			ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	G	XM_290737		5086046	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	silent	SNP	0.010	C	C	5086046	G	C	5086046	2	2	154	1	0	0	0	0	0	0	0	1	18054	1161	41	1		1	ZNF594	17	5086046	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2162220	5086046	76109164	332	27750										
EIF4A1	1973	genome.wustl.edu	37	chr17	7480675	7480675	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccactaggtagttttgctgtCagccacaatgccttctgatg	9	11	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:7480675C>T	ENST00000293831.8	+	7	654	c.638C>T	c.(637-639)tCa>tTa	p.S213L	SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.S213L|EIF4A1_ENST00000577269.1_Missense_Mutation_p.S213L|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	213	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GTTTTGCTGTCAGCCACAATG	0.498																																					Melanoma(120;278 1668 15796 27423 46368)												0													87	93	91					17																	7480675		2203	4300	6503	SO:0001583	missense	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.638C>T	17.37:g.7480675C>T	ENSP00000293831:p.Ser213Leu		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S213L	ENST00000293831.8	37	c.638	CCDS11113.1	17	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593750	0.46214	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.12774	2.65	5.41	5.41	0.78517	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	T	0.77480	-0.2572	10	0.87932	D	0	-26.2341	16.6961	0.85336	0.0:1.0:0.0:0.0	.	213;213;213	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	L	213;36	ENSP00000293831:S213L	ENSP00000293831:S213L	S	+	2	0	EIF4A1	7421399	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.368000	0.79567	2.540000	0.85666	0.591000	0.81541	TCA	EIF4A1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	C	NM_001416		7480675	1	no_errors	ENST00000293831	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7480675	C	T	7480675	3	4	154	1	0	0	0	0	1	0	0	0	5036	838	29	1	664	1	EIF4A1	17	7480675	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2394629	7480675	73714535	333	27751										
NDEL1	81565	genome.wustl.edu	37	chr17	8354172	8354172	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cggctcctagctctccaactCtagactgtgaaaagatggac	9	12	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:8354172C>G	ENST00000334527.7	+	6	798	c.601C>G	c.(601-603)Cta>Gta	p.L201V	NDEL1_ENST00000402554.3_Missense_Mutation_p.L201V|NDEL1_ENST00000380025.4_Missense_Mutation_p.L201V|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.L201V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	201	Interaction with CENPF.|Interaction with KATNA1. {ECO:0000250}.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						CTCTCCAACTCTAGACTGTGA	0.468																																																	0													76	65	69					17																	8354172		2203	4300	6503	SO:0001583	missense	81565			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.601C>G	17.37:g.8354172C>G	ENSP00000333982:p.Leu201Val		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	pfam_NUDE_C	p.L201V	ENST00000334527.7	37	c.601	CCDS11143.1	17	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258344	0.23051	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.98	4.01	0.46588	NUDE protein, C-terminal (1);	0.143270	0.47093	D	0.000253	T	0.43055	0.1230	L	0.41710	1.295	0.30863	N	0.733357	B;B	0.17038	0.02;0.009	B;B	0.25405	0.06;0.038	T	0.41070	-0.9529	9	0.15066	T	0.55	-2.723	13.5169	0.61545	0.0:0.925:0.0:0.0749	.	201;201	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	V	201;201;256;201	.	ENSP00000299734:L201V	L	+	1	2	NDEL1	8294897	0.008000	0.16893	0.252000	0.24328	0.971000	0.66376	0.877000	0.28106	1.461000	0.47929	0.655000	0.94253	CTA	NDEL1	-	pfam_NUDE_C		0.468	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDEL1	HGNC	protein_coding	OTTHUMT00000226999.2	C	NM_030808		8354172	1	no_errors	ENST00000299734	ensembl	human	known	70_37	missense	SNP	0.386	G	G	8354172	C	G	8354172	3	3	154	1	0	0	0	0	1	0	0	0	10268	912	32	1	619	1	NDEL1	17	8354172	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	873497	8354172	72841038	334	27752										
TBC1D26	353149	genome.wustl.edu	37	chr17	15641633	15641633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagtcattcccctggcggtaCggggccgggcgtggtcactt	15	12	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:15641633C>T	ENST00000437605.2	+	7	569	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000580194.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.R107W|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	107	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CCTGGCGGTACGGGGCCGGGC	0.517																																																	0													106	100	102					17																	15641633		1917	4130	6047	SO:0001583	missense	353149				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.319C>T	17.37:g.15641633C>T	ENSP00000410111:p.Arg107Trp		A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R107W	ENST00000437605.2	37	c.319	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	c	9.703	1.155098	0.21371	.	.	ENSG00000214946	ENST00000437605	T	0.34667	1.35	1.44	0.274	0.15654	Rab-GAP/TBC domain (4);	0.000000	0.85682	U	0.000000	T	0.42787	0.1218	M	0.92970	3.365	0.09310	N	1	B;B	0.32188	0.359;0.31	B;B	0.34180	0.177;0.111	T	0.46582	-0.9181	10	0.72032	D	0.01	.	4.6603	0.12639	0.3692:0.6308:0.0:0.0	.	107;107	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	W	107	ENSP00000410111:R107W	ENSP00000410111:R107W	R	+	1	2	TBC1D26	15582358	0.131000	0.22433	0.001000	0.08648	0.002000	0.02628	-0.513000	0.06305	-0.097000	0.12307	-0.718000	0.03613	CGG	TBC1D26	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.517	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding		C	NM_178571		15641633	1	no_errors	ENST00000437605	ensembl	human	known	70_37	missense	SNP	0.008	T	T	15641633	C	T	15641633	3	4	154	1	0	0	0	0	1	0	0	0	15646	527	19	2	337	2	TBC1D26	17	15641633	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	7287461	15641633	65553577	335	27753										
VTN	7448	genome.wustl.edu	37	chr17	26696313	26696313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cccacagcccctggcaccttGaagaggtaggtcttcccctg	10	16	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:26696313G>A	ENST00000226218.4	-	4	1284	c.666C>T	c.(664-666)ttC>ttT	p.F222F	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	222					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTGGCACCTTGAAGAGGTAGG	0.622																																																	0													78	80	79					17																	26696313		2203	4300	6503	SO:0001819	synonymous_variant	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.666C>T	17.37:g.26696313G>A			B2R7G0|P01141|Q9BSH7	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.F222	ENST00000226218.4	37	c.666	CCDS11229.1	17																																																																																			VTN	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.622	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	G	NM_000638		26696313	-1	no_errors	ENST00000226218	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26696313	G	A	26696313	2	1	154	1	0	0	0	0	0	0	0	1	17268	1281	45	1		1	VTN	17	26696313	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	11054680	26696313	54498897	336	27754										
NF1	4763	genome.wustl.edu	37	chr17	29661936	29661936	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtttttgcaagcataatgatGatgccaaacgacaaagagtt	9	6	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:29661936G>A	ENST00000358273.4	+	40	6276	c.5893G>A	c.(5893-5895)Gat>Aat	p.D1965N	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.D1944N|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1965					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCATAATGATGATGCCAAACG	0.353			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											132	121	125					17																	29661936		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5893G>A	17.37:g.29661936G>A	ENSP00000351015:p.Asp1965Asn		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.D1965N	ENST00000358273.4	37	c.5893	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007270	0.93287	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.92397	-3.03;-3.03;-3.03	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	L	0.39147	1.195	0.80722	D	1	D;P	0.67145	0.996;0.656	D;B	0.76071	0.987;0.358	D	0.93918	0.7203	10	0.46703	T	0.11	.	19.4882	0.95039	0.0:0.0:1.0:0.0	.	1944;1965	P21359-2;P21359	.;NF1_HUMAN	N	1965;1944;1610	ENSP00000351015:D1965N;ENSP00000348498:D1944N;ENSP00000389907:D1610N	ENSP00000348498:D1944N	D	+	1	0	NF1	26686062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.261000	0.95576	2.620000	0.88729	0.557000	0.71058	GAT	NF1	-	superfamily_ARM-type_fold		0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29661936	1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29661936	G	A	29661936	3	1	154	1	0	0	0	0	1	0	0	0	10380	1290	45	1	6112	1	NF1	17	29661936	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2965623	29661936	51533274	337	27755										
GAS2L2	246176	genome.wustl.edu	37	chr17	34072551	34072551	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gacccctgagccagttcttgGatggctttgtcataaggacc	11	11	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:34072551G>A	ENST00000254466.6	-	6	1992	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	GAS2L2_ENST00000587565.1_Silent_p.I639I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	655					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTTCTTGGATGGCTTTGT	0.632																																																	0													80	93	88					17																	34072551		2203	4300	6503	SO:0001819	synonymous_variant	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1965C>T	17.37:g.34072551G>A			Q8NHY4	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.I655	ENST00000254466.6	37	c.1965	CCDS11298.1	17																																																																																			GAS2L2	-	NULL		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34072551	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	silent	SNP	0.994	A	A	34072551	G	A	34072551	2	1	154	1	0	0	0	0	0	0	0	1	6266	1164	41	1		1	GAS2L2	17	34072551	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4410615	34072551	47122659	338	27756										
TADA2A	6871	genome.wustl.edu	37	chr17	35783680	35783680	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agccttatatcaagtgtgctGaatgtgggccacctcctttt	9	10	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:35783680G>A	ENST00000394395.2	+	3	270	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TADA2A_ENST00000225396.6_Missense_Mutation_p.E33K|TADA2A_ENST00000586023.1_Missense_Mutation_p.E33K|TADA2A_ENST00000417170.1_Missense_Mutation_p.E33K	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	33	Cys-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CAAGTGTGCTGAATGTGGGCC	0.433																																																	0													239	205	217					17																	35783680		2203	4300	6503	SO:0001583	missense	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.97G>A	17.37:g.35783680G>A	ENSP00000377918:p.Glu33Lys		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.E33K	ENST00000394395.2	37	c.97	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873335	0.72180	.	.	ENSG00000108264	ENST00000394395;ENST00000225396;ENST00000417170	T;T;T	0.66099	-0.19;-0.19;-0.19	6.06	6.06	0.98353	Zinc finger, ZZ-type (1);	0.045054	0.85682	D	0.000000	T	0.61602	0.2360	L	0.59967	1.855	0.80722	D	1	B;B	0.21821	0.061;0.028	B;B	0.20955	0.032;0.006	T	0.54807	-0.8238	10	0.22109	T	0.4	-22.8841	20.2159	0.98296	0.0:0.0:1.0:0.0	.	33;33	O75478-2;O75478	.;TAD2A_HUMAN	K	33	ENSP00000377918:E33K;ENSP00000225396:E33K;ENSP00000406699:E33K	ENSP00000225396:E33K	E	+	1	0	TADA2A	32857793	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.155000	0.77445	2.882000	0.98803	0.655000	0.94253	GAA	TADA2A	-	pirsf_Transcriptional_adaptor_2		0.433	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	G	NM_001488		35783680	1	no_errors	ENST00000225396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35783680	G	A	35783680	3	1	154	1	0	0	0	0	1	0	0	0	15540	1291	45	1	103	1	TADA2A	17	35783680	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1711129	35783680	45411530	339	27757										
FBXL20	84961	genome.wustl.edu	37	chr17	37421664	37421664	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actcaccaatacttgaagtcGaggacagtgtatagaaagtt	9	7	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:37421664G>A	ENST00000264658.6	-	13	1236	c.976C>T	c.(976-978)Cga>Tga	p.R326*	FBXL20_ENST00000583610.1_Nonsense_Mutation_p.R326*|FBXL20_ENST00000577399.1_Nonsense_Mutation_p.R328*|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.R294*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	326					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			ACTTGAAGTCGAGGACAGTGT	0.338																																																	0													117	108	111					17																	37421664		2203	4300	6503	SO:0001587	stop_gained	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.976C>T	17.37:g.37421664G>A	ENSP00000264658:p.Arg326*		A8K729|Q38J52	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.R326*	ENST00000264658.6	37	c.976	CCDS32640.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.355243	0.97498	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	5.61	4.56	0.56223	.	0.121655	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1147	0.72392	0.0:0.0:0.7713:0.2287	.	.	.	.	X	326;294	.	ENSP00000264658:R326X	R	-	1	2	FBXL20	34675190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.863000	0.56016	2.646000	0.89796	0.563000	0.77884	CGA	FBXL20	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.338	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	G	NM_032875		37421664	-1	no_errors	ENST00000264658	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	37421664	G	A	37421664	4	1	154	1	0	0	0	0	0	1	0	0	5735	1066	37	1	346	1	FBXL20	17	37421664	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1637984	37421664	43773546	340	27758										
CCR7	1236	genome.wustl.edu	37	chr17	38711120	38711120	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggtccttgaagagcttgaaGagatcgttgcggaacttgac	13	7	0	5	rs142089801	byFrequency	TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:38711120G>C	ENST00000246657.2	-	3	1073	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	CCR7_ENST00000579344.1_Silent_p.L331L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	337				L -> I (in Ref. 1; AAA58615). {ECO:0000305}.	activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGAGCTTGAAGAGATCGTTGC	0.612																																																	0													105	94	97					17																	38711120		2203	4300	6503	SO:0001819	synonymous_variant	1236				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.1011C>G	17.37:g.38711120G>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11	p.L337	ENST00000246657.2	37	c.1011	CCDS11369.1	17																																																																																			CCR7	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt		0.612	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1	G			38711120	-1	no_errors	ENST00000246657	ensembl	human	known	70_37	silent	SNP	0.991	C	C	38711120	G	C	38711120	2	2	154	1	0	0	0	0	0	0	0	1	2951	929	33	1		1	CCR7	17	38711120	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1289456	38711120	42484090	341	27759										
CCR7	1236	genome.wustl.edu	37	chr17	38711534	38711534	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgctcactgctgctcctctgGaggtcactgtacaggagctc	11	13	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:38711534G>C	ENST00000246657.2	-	3	659	c.597C>G	c.(595-597)ctC>ctG	p.L199L	CCR7_ENST00000579344.1_Silent_p.L193L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	199					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGCTCCTCTGGAGGTCACTGT	0.577																																																	0													65	57	60					17																	38711534		2203	4300	6503	SO:0001819	synonymous_variant	1236				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.597C>G	17.37:g.38711534G>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11	p.L199	ENST00000246657.2	37	c.597	CCDS11369.1	17																																																																																			CCR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7		0.577	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1	G			38711534	-1	no_errors	ENST00000246657	ensembl	human	known	70_37	silent	SNP	0.197	C	C	38711534	G	C	38711534	2	2	154	1	0	0	0	0	0	0	0	1	2951	1161	41	1		1	CCR7	17	38711534	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	414	38711534	42483676	342	27760										
DHX58	79132	genome.wustl.edu	37	chr17	40255628	40255628	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cccttccacaggtctcacgaGaagttggggttcacattgac	10	12	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:40255628G>C	ENST00000251642.3	-	12	1974	c.1752C>G	c.(1750-1752)ttC>ttG	p.F584L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	584	RNA-binding.|Repressor domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTCTCACGAGAAGTTGGGGT	0.567																																																	0													39	33	35					17																	40255628		2203	4300	6503	SO:0001583	missense	79132			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1752C>G	17.37:g.40255628G>C	ENSP00000251642:p.Phe584Leu		Q9HAM6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F584L	ENST00000251642.3	37	c.1752	CCDS11416.1	17	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481153	0.63849	.	.	ENSG00000108771	ENST00000251642	T	0.55930	0.49	5.72	5.72	0.89469	C-terminal domain of RIG-I (1);	0.053380	0.85682	D	0.000000	T	0.72590	0.3479	M	0.84326	2.69	0.54753	D	0.999983	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.984	T	0.72754	-0.4198	10	0.39692	T	0.17	.	12.3729	0.55263	0.0795:0.0:0.9205:0.0	.	577;584	B7Z455;Q96C10	.;DHX58_HUMAN	L	584	ENSP00000251642:F584L	ENSP00000251642:F584L	F	-	3	2	DHX58	37509154	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	1.715000	0.37971	2.705000	0.92388	0.555000	0.69702	TTC	DHX58	-	pfam_RIG-I_C-RD		0.567	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1	G	NM_024119		40255628	-1	no_errors	ENST00000251642	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40255628	G	C	40255628	3	2	154	1	0	0	0	0	1	0	0	0	4524	933	33	1	296	1	DHX58	17	40255628	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1544094	40255628	40939582	343	27761										
TBKBP1	9755	genome.wustl.edu	37	chr17	45773697	45773697	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cgccgcctcaaagtctacgaGatcaaggtcagaacttggag	11	11	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:45773697G>A	ENST00000361722.3	+	1	1068	c.219G>A	c.(217-219)gaG>gaA	p.E73E		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						AAGTCTACGAGATCAAGGTCA	0.587																																																	0													35	37	36					17																	45773697		1970	4149	6119	SO:0001819	synonymous_variant	9755			AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.219G>A	17.37:g.45773697G>A				Silent	SNP	NULL	p.E73	ENST00000361722.3	37	c.219	CCDS45722.1	17																																																																																			TBKBP1	-	NULL		0.587	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	HGNC	protein_coding	OTTHUMT00000441363.1	G	NM_014726		45773697	1	no_errors	ENST00000361722	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45773697	G	A	45773697	2	1	154	1	0	0	0	0	0	0	0	1	15668	933	33	1		1	TBKBP1	17	45773697	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5518069	45773697	35421513	344	27762										
ANKRD40	91369	genome.wustl.edu	37	chr17	48784890	48784890	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctccccacttaccagccgttGacctcattttgggagttcac	7	15	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:48784890G>C	ENST00000285243.6	-	1	395	c.126C>G	c.(124-126)gtC>gtG	p.V42V		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	42										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			ACCAGCCGTTGACCTCATTTT	0.677																																																	0													123	104	110					17																	48784890		2203	4300	6503	SO:0001819	synonymous_variant	91369			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.126C>G	17.37:g.48784890G>C			Q96E32	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V42	ENST00000285243.6	37	c.126	CCDS11572.1	17																																																																																			ANKRD40	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.677	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	HGNC	protein_coding	OTTHUMT00000368201.2	G	NM_052855		48784890	-1	no_errors	ENST00000285243	ensembl	human	known	70_37	silent	SNP	1.000	C	C	48784890	G	C	48784890	2	2	154	1	0	0	0	0	0	0	0	1	669	1277	45	1		1	ANKRD40	17	48784890	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3011193	48784890	32410320	345	27763										
STXBP4	252983	genome.wustl.edu	37	chr17	53124509	53124509	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acagaagagctccagaatgtGaaacaagtaagtatatgtat	9	5	0	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:53124509G>A	ENST00000376352.2	+	12	1212	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	STXBP4_ENST00000434978.2_Intron	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	335					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TCCAGAATGTGAAACAAGTAA	0.333																																																	0													95	101	99					17																	53124509		2203	4300	6503	SO:0001819	synonymous_variant	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1005G>A	17.37:g.53124509G>A			Q8IVZ5	Silent	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.V335	ENST00000376352.2	37	c.1005	CCDS11584.2	17																																																																																			STXBP4	-	NULL		0.333	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53124509	1	no_errors	ENST00000376352	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53124509	G	A	53124509	2	1	154	1	0	0	0	0	0	0	0	1	15385	1277	45	1		1	STXBP4	17	53124509	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4339619	53124509	28070701	346	27764										
CLTC	1213	genome.wustl.edu	37	chr17	57742163	57742163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tataggttggatacactccaGattggatatttctgctgaga	10	6	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:57742163G>A	ENST00000269122.3	+	10	1811	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.D513N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	513	Flexible linker.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATACACTCCAGATTGGATATT	0.363			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													121	123	122					17																	57742163		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1537G>A	17.37:g.57742163G>A	ENSP00000269122:p.Asp513Asn		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D513N	ENST00000269122.3	37	c.1537	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.305878	0.95629	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.23950	1.88;1.88	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.76002	2.32	0.80722	D	1	D;P	0.64830	0.994;0.95	D;P	0.80764	0.994;0.888	T	0.51148	-0.8742	10	0.45353	T	0.12	.	19.2399	0.93877	0.0:0.0:1.0:0.0	.	513;513	Q00610;Q00610-2	CLH1_HUMAN;.	N	513	ENSP00000269122:D513N;ENSP00000376763:D513N	ENSP00000269122:D513N	D	+	1	0	CLTC	55096945	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.618000	0.88619	0.563000	0.77884	GAT	CLTC	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.363	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	G	NM_004859		57742163	1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57742163	G	A	57742163	3	1	154	1	0	0	0	0	1	0	0	0	3571	942	33	1	1575	1	CLTC	17	57742163	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4617654	57742163	23453047	347	27765										
USP32	84669	genome.wustl.edu	37	chr17	58292072	58292072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tttccttgatggtctgcattCgactaaaacagcctgtatag	8	9	1	1	rs377023063		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:58292072C>A	ENST00000300896.4	-	17	2125	c.1931G>T	c.(1930-1932)cGa>cTa	p.R644L	USP32_ENST00000592339.1_Missense_Mutation_p.R314L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	644					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GGTCTGCATTCGACTAAAACA	0.423																																																	0													32	31	32					17																	58292072		2200	4277	6477	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1931G>T	17.37:g.58292072C>A	ENSP00000300896:p.Arg644Leu		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.R644L	ENST00000300896.4	37	c.1931	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045994	0.93685	.	.	ENSG00000170832	ENST00000300896	T	0.51325	0.71	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.64170	1.965	0.80722	D	1	D	0.59767	0.986	P	0.52309	0.695	T	0.63739	-0.6569	10	0.66056	D	0.02	.	19.155	0.93506	0.0:1.0:0.0:0.0	.	644	Q8NFA0	UBP32_HUMAN	L	644	ENSP00000300896:R644L	ENSP00000300896:R644L	R	-	2	0	USP32	55646854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.921000	0.70028	2.539000	0.85634	0.650000	0.86243	CGA	USP32	-	NULL		0.423	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	C	NM_032582		58292072	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58292072	C	A	58292072	3	1	154	1	0	0	0	0	1	0	0	0	17094	884	31	3	2955	3	USP32	17	58292072	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	549909	58292072	22903138	348	27766										
MED13	9969	genome.wustl.edu	37	chr17	60039009	60039009	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccaaagccagtcaatgttttCacattggttgatgttggaag	10	7	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:60039009C>T	ENST00000397786.2	-	22	5272	c.5196G>A	c.(5194-5196)gtG>gtA	p.V1732V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1732					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCAATGTTTTCACATTGGTTG	0.423																																																	0													121	120	120					17																	60039009		1878	4100	5978	SO:0001819	synonymous_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5196G>A	17.37:g.60039009C>T			B2RU05|O60334	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.V1732	ENST00000397786.2	37	c.5196	CCDS42366.1	17																																																																																			MED13	-	pfam_Mediator_Med13		0.423	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60039009	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	silent	SNP	0.992	T	T	60039009	C	T	60039009	2	4	154	1	0	0	0	0	0	0	0	1	9453	813	29	1		1	MED13	17	60039009	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1746937	60039009	21156201	349	27767										
DDX42	11325	genome.wustl.edu	37	chr17	61894305	61894305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gctatgggagatcgactaacGgcaatgaaagcagctttcca	11	9	0	2	rs370567643		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:61894305G>A	ENST00000578681.1	+	18	2692	c.2091G>A	c.(2089-2091)acG>acA	p.T697T	DDX42_ENST00000583590.1_Silent_p.T697T|DDX42_ENST00000359353.5_Silent_p.T578T|DDX42_ENST00000457800.2_Silent_p.T697T|DDX42_ENST00000389924.2_Silent_p.T697T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	697					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATCGACTAACGGCAATGAAAG	0.413																																																	0								G	,	0,4406		0,0,2203	70	65	67		2091,2091	-8.9	0.9	17		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DDX42	NM_007372.2,NM_203499.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	697/939,697/939	61894305	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2091G>A	17.37:g.61894305G>A			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T697	ENST00000578681.1	37	c.2091	CCDS32704.1	17																																																																																			DDX42	-	NULL		0.413	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	G	NM_007372		61894305	1	no_errors	ENST00000389924	ensembl	human	known	70_37	silent	SNP	0.885	A	A	61894305	G	A	61894305	2	1	154	1	0	0	0	0	0	0	0	1	4367	1103	39	2		2	DDX42	17	61894305	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1855296	61894305	19300905	350	27768										
CSH1	1442	genome.wustl.edu	37	chr17	61972547	61972547	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctgtaggtctgcttgaggatCtgcccagtccggcggctgcc	14	13	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:61972547C>G	ENST00000316193.8	-	5	630	c.489G>C	c.(487-489)caG>caC	p.Q163H	CSH1_ENST00000453363.3_Missense_Mutation_p.Q68H|CSH1_ENST00000329882.8_Missense_Mutation_p.D248H	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	163						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCTTGAGGATCTGCCCAGTCC	0.552									Russell-Silver syndrome																																								0													157	136	143					17																	61972547		2194	4300	6494	SO:0001583	missense	1442	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"chorionic somatomammotropin A", "placental lactogen", "choriomammotropin"	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.489G>C	17.37:g.61972547C>G	ENSP00000316416:p.Gln163His		P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.Q163H	ENST00000316193.8	37	c.489	CCDS11649.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	3.521|3.521	-0.097823|-0.097823	0.07010|0.07010	.|.	.|.	ENSG00000136488|ENSG00000136488	ENST00000329882|ENST00000316193;ENST00000453363	D|D;D	0.89415|0.89050	-2.51|-2.32;-2.46	2.56|2.56	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	D|D	0.86502|0.86502	0.5948|0.5948	M|M	0.69358|0.69358	2.11|2.11	0.19300|0.19300	N|N	0.999971|0.999971	D|B;B	0.53312|0.11235	0.959|0.002;0.004	P|B;B	0.46543|0.15870	0.52|0.014;0.003	T|T	0.79624|0.79624	-0.1726|-0.1726	8|9	.|0.66056	.|D	.|0.02	.|.	8.65|8.65	0.34029|0.34029	0.0:0.7625:0.2375:0.0|0.0:0.7625:0.2375:0.0	.|.	248|68;163	A6NFB4|B1A4H2;Q6PF11	.|.;.	H|H	248|163;68	ENSP00000333268:D248H|ENSP00000316416:Q163H;ENSP00000402517:Q68H	.|ENSP00000316416:Q163H	D|Q	-|-	1|3	0|2	CSH1|CSH1	59326279|59326279	0.842000|0.842000	0.29525|0.29525	0.996000|0.996000	0.52242|0.52242	0.015000|0.015000	0.08874|0.08874	1.368000|1.368000	0.34216|0.34216	1.422000|1.422000	0.47177|0.47177	0.313000|0.313000	0.20887|0.20887	GAT|CAG	CSH1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core		0.552	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH1	HGNC	protein_coding	OTTHUMT00000416040.1	C	NM_001317		61972547	-1	no_errors	ENST00000316193	ensembl	human	known	70_37	missense	SNP	0.392	G	G	61972547	C	G	61972547	3	3	154	1	0	0	0	0	1	0	0	0	3945	913	32	1	168	1	CSH1	17	61972547	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	78242	61972547	19222663	351	27769										
PRKCA	5578	genome.wustl.edu	37	chr17	64800031	64800031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctttgacaagttcttcacacGaggacagcccgtcttaacac	7	13	3	1	rs140466753		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:64800031G>A	ENST00000413366.3	+	17	1921	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	632	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TTCTTCACACGAGGACAGCCC	0.473																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	147	125	132		1895	4.6	0.9	17	dbSNP_134	132	0,8600		0,0,4300	no	missense	PRKCA	NM_002737.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	632/673	64800031	1,13005	2203	4300	6503	SO:0001583	missense	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1895G>A	17.37:g.64800031G>A	ENSP00000408695:p.Arg632Gln		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.R632Q	ENST00000413366.3	37	c.1895	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834989	0.32421	2.27E-4	0.0	ENSG00000154229	ENST00000413366	T	0.57436	0.4	5.57	4.6	0.57074	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.48352	0.1495	L	0.52011	1.625	0.52099	D	0.999944	B	0.19583	0.037	B	0.14023	0.01	T	0.46965	-0.9153	10	0.56958	D	0.05	.	14.3942	0.67001	0.0707:0.0:0.9293:0.0	.	632	P17252	KPCA_HUMAN	Q	632	ENSP00000408695:R632Q	ENSP00000408695:R632Q	R	+	2	0	PRKCA	62230493	1.000000	0.71417	0.940000	0.37924	0.307000	0.27823	9.414000	0.97362	1.363000	0.46019	-0.136000	0.14681	CGA	PRKCA	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g		0.473	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	G			64800031	1	no_errors	ENST00000413366	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64800031	G	A	64800031	3	1	154	1	0	0	0	0	1	0	0	0	12534	1058	37	1	1961	1	PRKCA	17	64800031	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2827484	64800031	16395179	352	27770										
NOL11	25926	genome.wustl.edu	37	chr17	65714108	65714108	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acgttgtcttcggtagtcctGagcgccgggcctgaaggact	14	11	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:65714108G>C	ENST00000253247.4	+	1	160	c.45G>C	c.(43-45)ctG>ctC	p.L15L	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	15					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGGTAGTCCTGAGCGCCGGGC	0.567											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	65	67					17																	65714108		2203	4300	6503	SO:0001819	synonymous_variant	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.45G>C	17.37:g.65714108G>C		1086	B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	pfam_NUC205	p.L15	ENST00000253247.4	37	c.45	CCDS11671.1	17																																																																																			NOL11	-	NULL		0.567	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	G	NM_015462		65714108	1	no_errors	ENST00000253247	ensembl	human	known	70_37	silent	SNP	0.977	C	C	65714108	G	C	65714108	2	2	154	1	0	0	0	0	0	0	0	1	10545	1277	45	1		1	NOL11	17	65714108	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	914077	65714108	15481102	353	27771										
CDC42EP4	23580	genome.wustl.edu	37	chr17	71281696	71281696	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgcgctcctccaggatgcctGaggtgcagctggagagggag	17	10	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:71281696G>A	ENST00000335793.3	-	2	1338	c.944C>T	c.(943-945)tCa>tTa	p.S315L	CDC42EP4_ENST00000581014.1_Silent_p.L47L|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.S245L			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	315					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CAGGATGCCTGAGGTGCAGCT	0.687																																																	0													33	39	37					17																	71281696		2203	4299	6502	SO:0001583	missense	23580			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.944C>T	17.37:g.71281696G>A	ENSP00000338258:p.Ser315Leu		B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.S315L	ENST00000335793.3	37	c.944	CCDS11695.1	17	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835767	0.71373	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.56103	0.61;0.48	4.91	3.87	0.44632	.	0.587064	0.14927	N	0.290302	T	0.66723	0.2818	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	T	0.65265	-0.6210	10	0.40728	T	0.16	-7.2456	14.2806	0.66208	0.0:0.1498:0.8502:0.0	.	245;315	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	L	315;245	ENSP00000338258:S315L;ENSP00000404270:S245L	ENSP00000338258:S315L	S	-	2	0	CDC42EP4	68793291	1.000000	0.71417	0.992000	0.48379	0.278000	0.26855	7.024000	0.76443	2.287000	0.76781	0.484000	0.47621	TCA	CDC42EP4	-	NULL		0.687	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	G	NM_012121		71281696	-1	no_errors	ENST00000335793	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71281696	G	A	71281696	3	1	154	1	0	0	0	0	1	0	0	0	3083	1294	45	1	130	1	CDC42EP4	17	71281696	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5567588	71281696	9913514	354	27772										
B3GNTL1	146712	genome.wustl.edu	37	chr17	80972369	80972369	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gcagcctcgtgttgcagcctCacccgctggggcatcatgac	12	15	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr17:80972369C>T	ENST00000320865.3	-	5	382	c.369G>A	c.(367-369)gtG>gtA	p.V123V	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	123							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTTGCAGCCTCACCCGCTGGG	0.473																																																	0													123	95	104					17																	80972369		2202	4300	6502	SO:0001819	synonymous_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.369G>A	17.37:g.80972369C>T			Q6GV30|Q8WUT3	Silent	SNP	pfam_Glyco_trans_2	p.V123	ENST00000320865.3	37	c.369	CCDS32778.1	17																																																																																			B3GNTL1	-	pfam_Glyco_trans_2		0.473	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	HGNC	protein_coding	OTTHUMT00000438949.1	C	NM_001009905		80972369	-1	no_errors	ENST00000320865	ensembl	human	known	70_37	silent	SNP	1.000	T	T	80972369	C	T	80972369	2	4	154	1	0	0	0	0	0	0	0	1	1266	813	29	1		1	B3GNTL1	17	80972369	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	9690673	80972369	222841	355	27773										
KLHL14	57565	genome.wustl.edu	37	chr18	30350522	30350522	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttgtcgctgtggctggggtcGaaggtggaggtcctgtcccc	17	10	0	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr18:30350522G>A	ENST00000359358.4	-	2	471	c.33C>T	c.(31-33)ttC>ttT	p.F11F	KLHL14_ENST00000358095.4_Silent_p.F11F|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	11						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGCTGGGGTCGAAGGTGGAGG	0.642																																																	0													78	56	63					18																	30350522		2202	4300	6502	SO:0001819	synonymous_variant	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.33C>T	18.37:g.30350522G>A			A6NNW1|B4DHA0|Q8WU41	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F11	ENST00000359358.4	37	c.33	CCDS32813.1	18																																																																																			KLHL14	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	G			30350522	-1	no_errors	ENST00000359358	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30350522	G	A	30350522	2	1	154	1	0	0	0	0	0	0	0	1	8390	1049	37	1		1	KLHL14	18	30350522	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		30350522	47726726	356	27774										
DCC	1630	genome.wustl.edu	37	chr18	49867236	49867236	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttccttgttcagcgcgcatCttcaagtaaccggtaagtgg	10	11	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr18:49867236C>T	ENST00000442544.2	+	1	695	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F	RP11-25O3.1_ENST00000582700.1_lincRNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	27	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCGCGCATCTTCAAGTAAC	0.498																																																	0													191	170	177					18																	49867236		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.79C>T	18.37:g.49867236C>T	ENSP00000389140:p.Leu27Phe			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L27F	ENST00000442544.2	37	c.79	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490600	0.44249	.	.	ENSG00000187323	ENST00000442544	T	0.52295	0.67	5.73	5.73	0.89815	Immunoglobulin-like (1);	0.167338	0.28895	N	0.013797	T	0.36026	0.0952	N	0.16903	0.455	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.07366	-1.0776	10	0.37606	T	0.19	.	18.6711	0.91512	0.0:1.0:0.0:0.0	.	27	P43146	DCC_HUMAN	F	27	ENSP00000389140:L27F	ENSP00000389140:L27F	L	+	1	0	DCC	48121234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.676000	0.61627	2.709000	0.92574	0.561000	0.74099	CTT	DCC	-	pfscan_Ig-like		0.498	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		49867236	1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49867236	C	T	49867236	3	4	154	1	0	0	0	0	1	0	0	0	4287	913	32	1	81	1	DCC	18	49867236	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	19516714	49867236	28210012	357	27775										
WDR7	23335	genome.wustl.edu	37	chr18	54605880	54605880	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	attgaaattcttattgaaaaGatgcccacagatgttgtgga	9	5	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr18:54605880G>C	ENST00000254442.3	+	24	4159	c.3948G>C	c.(3946-3948)aaG>aaC	p.K1316N	WDR7_ENST00000357574.3_Missense_Mutation_p.K1283N|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1316					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTATTGAAAAGATGCCCACAG	0.358																																																	0													93	88	90					18																	54605880		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3948G>C	18.37:g.54605880G>C	ENSP00000254442:p.Lys1316Asn		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1316N	ENST00000254442.3	37	c.3948	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619391	0.66787	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.18174	2.23;2.23	5.99	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	L	0.52573	1.65	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.02275	-1.1184	10	0.51188	T	0.08	.	7.2137	0.25947	0.3348:0.0:0.6652:0.0	.	1283;1316	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	N	1316;1283;641;1283	ENSP00000254442:K1316N;ENSP00000350187:K1283N	ENSP00000254442:K1316N	K	+	3	2	WDR7	52756878	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.010000	0.40913	1.542000	0.49330	-0.150000	0.13652	AAG	WDR7	-	superfamily_ARM-type_fold		0.358	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	G			54605880	1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54605880	G	C	54605880	3	2	154	1	0	0	0	0	1	0	0	0	17351	933	33	1	4038	1	WDR7	18	54605880	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4738644	54605880	23471368	358	27776										
SERPINB3	6317	genome.wustl.edu	37	chr18	61324221	61324221	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtatggacttgtatgtattCtacaataaatcaatgtgtcc	7	6	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr18:61324221C>G	ENST00000283752.5	-	7	756		c.e7-1		SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3						negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTATGTATTCTACAATAAAT	0.358																																																	0													100	84	90					18																	61324221		2203	4300	6503	SO:0001630	splice_region_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.613-1G>C	18.37:g.61324221C>G			A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Splice_Site	SNP	-	e6-1	ENST00000283752.5	37	c.613-1	CCDS11987.1	18	.	.	.	.	.	.	.	.	.	.	C	3.573	-0.087174	0.07097	.	.	ENSG00000057149	ENST00000283752	.	.	.	2.64	0.75	0.18387	.	.	.	.	.	.	.	.	.	.	.	0.21105	N	0.999786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8927	0.24238	0.0:0.7156:0.1777:0.1067	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINB3	59475201	0.988000	0.35896	0.001000	0.08648	0.016000	0.09150	3.074000	0.50065	0.181000	0.19994	0.455000	0.32223	.	SERPINB3	-	-		0.358	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	HGNC	protein_coding	OTTHUMT00000133791.1	C	NM_006919	Intron	61324221	-1	no_errors	ENST00000283752	ensembl	human	known	70_37	splice_site	SNP	0.035	G	G	61324221	C	G	61324221	5	3	154	1	0	0	0	0	0	0	1	0	14132	927	32	1	568	1	SERPINB3	18	61324221	Splice_Site	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6718341	61324221	16753027	359	27777										
SERPINB11	89778	genome.wustl.edu	37	chr18	61377475	61377475	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gaattttgccttgatgtgttCaaagagctgaacagtaacaa	9	6	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr18:61377475C>G	ENST00000382749.5	+	0	293				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTGATGTGTTCAAAGAGCTGA	0.433																																					Ovarian(27;496 784 5942 8975 23930)												0													107	99	101					18																	61377475		1924	4153	6077			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377475C>G			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F16L	ENST00000382749.5	37	c.48		18	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707500	0.48412	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.81739	-1.53;-1.53	5.14	4.25	0.50352	Serpin domain (3);	0.000000	0.52532	D	0.000066	T	0.80237	0.4586	L	0.46614	1.455	0.80722	D	1	D;P	0.55385	0.971;0.885	P;B	0.57679	0.825;0.389	T	0.76105	-0.3081	10	0.27785	T	0.31	.	7.1513	0.25612	0.1731:0.7349:0.0:0.092	.	16;16	F5GY69;Q96P15	.;SPB11_HUMAN	L	16	ENSP00000441497:F16L;ENSP00000440795:F16L	ENSP00000421854:F16L	F	+	3	2	SERPINB11	59528455	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.710000	0.37920	2.536000	0.85505	0.655000	0.94253	TTC	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.433	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61377475	1	no_errors	ENST00000538847	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61377475	C	G	61377475	1	3	154	0	1	0	0	0	0	0	0	0	14128	825	29	1		1	SERPINB11	18	61377475	RNA	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	53254	61377475	16699773	360	27778										
SERPINB11	89778	genome.wustl.edu	37	chr18	61377519	61377519	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggagataacatcttcttttCttcgctgagtctgctttatg	8	8	4	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr18:61377519C>G	ENST00000382749.5	+	0	337				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATCTTCTTTTCTTCGCTGAGT	0.438																																					Ovarian(27;496 784 5942 8975 23930)												0													129	119	122					18																	61377519		1921	4149	6070			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377519C>G			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S31C	ENST00000382749.5	37	c.92		18	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173497	0.38413	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.95447	-3.71;-3.71	5.14	5.14	0.70334	Serpin domain (3);	0.000000	0.49916	D	0.000131	D	0.98046	0.9356	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98614	1.0664	10	0.59425	D	0.04	.	16.4501	0.83977	0.0:1.0:0.0:0.0	.	31;31	F5GY69;Q96P15	.;SPB11_HUMAN	C	31	ENSP00000441497:S31C;ENSP00000440795:S31C	ENSP00000421854:S31C	S	+	2	0	SERPINB11	59528499	0.999000	0.42202	0.942000	0.38095	0.100000	0.18952	5.117000	0.64667	2.536000	0.85505	0.655000	0.94253	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.438	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61377519	1	no_errors	ENST00000538847	ensembl	human	known	70_37	missense	SNP	0.993	G	G	61377519	C	G	61377519	1	3	154	0	1	0	0	0	0	0	0	0	14128	913	32	1		1	SERPINB11	18	61377519	RNA	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	44	61377519	16699729	361	27779										
SHC2	25759	genome.wustl.edu	37	chr19	438722	438722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aagagggcagacccacctggCgcgtggcaggcacggagagg	18	11	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:438722C>T	ENST00000264554.6	-	4	715	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	239	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACCTGGCGCGTGGCAGG	0.677																																																	0													30	33	32					19																	438722		2063	4152	6215	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.716G>A	19.37:g.438722C>T	ENSP00000264554:p.Arg239His		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.R239H	ENST00000264554.6	37	c.716	CCDS45891.1	19	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023886	0.54683	.	.	ENSG00000129946	ENST00000264554	T	0.14022	2.54	3.67	2.62	0.31277	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	L	0.56769	1.78	0.52501	D	0.99995	P	0.43231	0.801	B	0.34779	0.189	T	0.06789	-1.0807	10	0.52906	T	0.07	-31.9498	11.0459	0.47859	0.0:0.9043:0.0:0.0957	.	239	P98077	SHC2_HUMAN	H	239	ENSP00000264554:R239H	ENSP00000264554:R239H	R	-	2	0	SHC2	389722	1.000000	0.71417	0.983000	0.44433	0.660000	0.38997	3.492000	0.53259	0.849000	0.35215	0.491000	0.48974	CGC	SHC2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	C			438722	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	438722	C	T	438722	3	4	154	1	0	0	0	0	1	0	0	0	14301	768	27	2	1068	2	SHC2	19	438722	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09		438722	58690261	362	27780										
ABCA7	10347	genome.wustl.edu	37	chr19	1043092	1043092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggcactgctgcagagaccccGagggaccagcggccccctgg	15	16	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:1043092G>A	ENST00000263094.6	+	8	863	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	ABCA7_ENST00000435683.2_Missense_Mutation_p.R73Q|ABCA7_ENST00000433129.1_Missense_Mutation_p.R211Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	211					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGACCCCGAGGGACCAGC	0.647																																																	0													33	38	36					19																	1043092		2201	4300	6501	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.632G>A	19.37:g.1043092G>A	ENSP00000263094:p.Arg211Gln		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R211Q	ENST00000263094.6	37	c.632	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328026	0.24080	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86097	-2.07;-2.07	4.1	-7.21	0.01490	.	.	.	.	.	T	0.63698	0.2533	N	0.19112	0.55	0.09310	N	1	B;B	0.17465	0.022;0.001	B;B	0.06405	0.002;0.0	T	0.52109	-0.8619	9	0.17369	T	0.5	.	1.1829	0.01849	0.3945:0.2605:0.2143:0.1307	.	73;211	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	Q	211	ENSP00000263094:R211Q;ENSP00000414062:R211Q	ENSP00000263094:R211Q	R	+	2	0	ABCA7	994092	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-2.347000	0.01095	-0.667000	0.05303	0.313000	0.20887	CGA	ABCA7	-	NULL		0.647	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1043092	1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1043092	G	A	1043092	3	1	154	1	0	0	0	0	1	0	0	0	37	1058	37	1	658	1	ABCA7	19	1043092	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	604370	1043092	58085891	363	27781										
GNA15	2769	genome.wustl.edu	37	chr19	3162819	3162819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caggatgctgaggcagccaaGaggttcatcctggacatgta	13	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:3162819G>C	ENST00000262958.3	+	7	1185	c.927G>C	c.(925-927)aaG>aaC	p.K309N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	309					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGCAGCCAAGAGGTTCATCC	0.632											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69	53	58					19																	3162819		2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.927G>C	19.37:g.3162819G>C	ENSP00000262958:p.Lys309Asn	609	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.K309N	ENST00000262958.3	37	c.927	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274134	0.59649	.	.	ENSG00000060558	ENST00000262958	D	0.88586	-2.4	4.42	3.38	0.38709	.	0.137856	0.45606	D	0.000344	D	0.93161	0.7822	M	0.84156	2.68	0.40657	D	0.982097	D	0.63046	0.992	D	0.65684	0.937	D	0.92278	0.5831	10	0.45353	T	0.12	.	10.1538	0.42809	0.1009:0.0:0.8991:0.0	.	309	P30679	GNA15_HUMAN	N	309	ENSP00000262958:K309N	ENSP00000262958:K309N	K	+	3	2	GNA15	3113819	0.612000	0.27000	0.818000	0.32626	0.947000	0.59692	2.514000	0.45503	0.837000	0.34925	-0.258000	0.10820	AAG	GNA15	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	G	NM_002068		3162819	1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.953	C	C	3162819	G	C	3162819	3	2	154	1	0	0	0	0	1	0	0	0	6522	933	33	1	953	1	GNA15	19	3162819	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2119727	3162819	55966164	364	27782										
LONP1	9361	genome.wustl.edu	37	chr19	5696116	5696116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tagcccgacacgttgatcatCtccatacggtctcgcagcgg	10	14	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:5696116C>G	ENST00000360614.3	-	13	2119	c.1962G>C	c.(1960-1962)gaG>gaC	p.E654D	LONP1_ENST00000593119.1_Missense_Mutation_p.E590D|LONP1_ENST00000585374.1_Missense_Mutation_p.E540D|LONP1_ENST00000540670.2_Missense_Mutation_p.E458D|LONP1_ENST00000590729.1_Missense_Mutation_p.E524D	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTTGATCATCTCCATACGGT	0.677																																																	0													59	51	54					19																	5696116		2203	4300	6503	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1962G>C	19.37:g.5696116C>G	ENSP00000353826:p.Glu654Asp			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E654D	ENST00000360614.3	37	c.1962	CCDS12148.1	19	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955109	0.53293	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	D;D	0.92048	-2.96;-2.96	4.67	3.59	0.41128	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.109437	0.64402	D	0.000012	D	0.94608	0.8262	M	0.67569	2.06	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.983;0.988	D	0.93852	0.7146	10	0.54805	T	0.06	-23.8954	11.4742	0.50288	0.1815:0.8185:0.0:0.0	.	654;590;654	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	D	654;618;458	ENSP00000353826:E654D;ENSP00000441523:E458D	ENSP00000351177:E618D	E	-	3	2	LONP1	5647116	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	2.750000	0.47500	0.886000	0.36113	0.491000	0.48974	GAG	LONP1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_Pept_S16_lon		0.677	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000451662.1	C	NM_004793		5696116	-1	no_errors	ENST00000360614	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5696116	C	G	5696116	3	3	154	1	0	0	0	0	1	0	0	0	8915	912	32	1	941	1	LONP1	19	5696116	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	2533297	5696116	53432867	365	27783										
TMEM146	257062	genome.wustl.edu	37	chr19	5751739	5751739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggaaatactgaccccactgCgtgacacagcctttccagct	8	14	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:5751739C>T	ENST00000381624.3	+	12	1130	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	CATSPERD_ENST00000381614.2_Missense_Mutation_p.R15C	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	357					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GACCCCACTGCGTGACACAGC	0.498																																																	0													60	57	58					19																	5751739		1870	4119	5989	SO:0001583	missense	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1069C>T	19.37:g.5751739C>T	ENSP00000371037:p.Arg357Cys		Q6ZRP1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.R357C	ENST00000381624.3	37	c.1069	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683721	0.47991	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614	T;T	0.24350	1.86;1.86	3.53	-1.51	0.08664	.	3.533280	0.01196	U	0.007448	T	0.23249	0.0562	L	0.29908	0.895	0.09310	N	1	D;D	0.61697	0.976;0.99	B;P	0.47744	0.36;0.556	T	0.14755	-1.0461	10	0.51188	T	0.08	-0.3038	4.0321	0.09713	0.0:0.3932:0.3666:0.2402	.	283;357	B7WNK5;Q86XM0	.;TM146_HUMAN	C	283;357;15	ENSP00000371037:R357C;ENSP00000371027:R15C	ENSP00000371027:R15C	R	+	1	0	TMEM146	5702739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.155000	0.03163	-0.259000	0.09432	0.453000	0.30009	CGT	CATSPERD	-	NULL		0.498	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	C	NM_152784		5751739	1	no_errors	ENST00000381624	ensembl	human	known	70_37	missense	SNP	0.000	T	T	5751739	C	T	5751739	3	4	154	1	0	0	0	0	1	0	0	0	16090	768	27	2	1115	2	TMEM146	19	5751739	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	55623	5751739	53377244	366	27784										
DUS3L	56931	genome.wustl.edu	37	chr19	5789420	5789420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggggccctggctgaaccggCgcagggcctgctcagctcgc	16	15	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:5789420C>T	ENST00000309061.7	-	3	794	c.698G>A	c.(697-699)cGc>cAc	p.R233H	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	233							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCTGAACCGGCGCAGGGCCTG	0.726																																																	0													7	10	9					19																	5789420		2149	4189	6338	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.698G>A	19.37:g.5789420C>T	ENSP00000311977:p.Arg233His		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.R233H	ENST00000309061.7	37	c.698	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354375	0.41700	.	.	ENSG00000141994	ENST00000309061	T	0.18338	2.22	4.53	-7.28	0.01456	.	1.282520	0.05166	N	0.498643	T	0.16342	0.0393	M	0.62723	1.935	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.42632	-0.9440	10	0.72032	D	0.01	-31.2271	7.5637	0.27866	0.1141:0.265:0.0:0.6208	.	233	Q96G46	DUS3L_HUMAN	H	233	ENSP00000311977:R233H	ENSP00000311977:R233H	R	-	2	0	DUS3L	5740420	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.025000	0.12413	-1.326000	0.02266	-0.189000	0.12847	CGC	DUS3L	-	NULL		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5789420	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	missense	SNP	0.000	T	T	5789420	C	T	5789420	3	4	154	1	0	0	0	0	1	0	0	0	4817	768	27	2	1298	2	DUS3L	19	5789420	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	37681	5789420	53339563	367	27785										
ZSWIM4	65249	genome.wustl.edu	37	chr19	13928068	13928068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccacctgcatcaccaacaccGaaggatgggtggggcacccc	11	16	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:13928068G>A	ENST00000254323.2	+	7	1408	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E241K	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	407							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CACCAACACCGAAGGATGGGT	0.632																																																	0													74	73	73					19																	13928068		2203	4300	6503	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1219G>A	19.37:g.13928068G>A	ENSP00000254323:p.Glu407Lys			Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E407K	ENST00000254323.2	37	c.1219	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.282923	0.95489	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48201	0.82;0.84	4.79	4.79	0.61399	.	0.198962	0.32357	N	0.006212	T	0.61664	0.2365	L	0.60455	1.87	0.51767	D	0.999934	P;D	0.69078	0.681;0.997	B;P	0.61397	0.155;0.888	T	0.63972	-0.6516	10	0.52906	T	0.07	-2.0711	15.3128	0.74048	0.0:0.0:1.0:0.0	.	241;407	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	K	407;241	ENSP00000254323:E407K;ENSP00000405278:E241K	ENSP00000254323:E407K	E	+	1	0	ZSWIM4	13789068	1.000000	0.71417	0.877000	0.34402	0.830000	0.47004	9.483000	0.97937	2.215000	0.71742	0.400000	0.26472	GAA	ZSWIM4	-	NULL		0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	G	XM_031342		13928068	1	no_errors	ENST00000254323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13928068	G	A	13928068	3	1	154	1	0	0	0	0	1	0	0	0	18273	1059	37	1	1245	1	ZSWIM4	19	13928068	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	8138648	13928068	45200915	368	27786										
SAMD1	5566	genome.wustl.edu	37	chr19	14200004	14200004	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggggtccactccttgaccctCtccttggcactctgaggtcc	10	16	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:14200004C>T	ENST00000308677.4	-	0	2677				SAMD1_ENST00000533683.2_Silent_p.E269E|PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCTTGACCCTCTCCTTGGCAC	0.677																																																	0													40	43	42					19																	14200004		1973	4139	6112	SO:0001628	intergenic_variant	90378				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14200004C>T			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E269	ENST00000308677.4	37	c.807	CCDS12304.1	19																																																																																			SAMD1	-	NULL		0.677	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14200004	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	silent	SNP	0.954	T	T	14200004	C	T	14200004	1	4	154	0	1	0	0	0	0	0	0	0	13844	912	32	1		1	SAMD1	19	14200004	IGR	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	271936	14200004	44928979	369	27787										
NOTCH3	4854	genome.wustl.edu	37	chr19	15272415	15272415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctctcctgggctacgtcccgCggcagcctgtccaggtggtc	13	16	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:15272415C>T	ENST00000263388.2	-	33	6099	c.6024G>A	c.(6022-6024)ccG>ccA	p.P2008P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2008					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTACGTCCCGCGGCAGCCTGT	0.682																																																	0													27	26	27					19																	15272415		2202	4299	6501	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6024G>A	19.37:g.15272415C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.P2008	ENST00000263388.2	37	c.6024	CCDS12326.1	19																																																																																			NOTCH3	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom		0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435		15272415	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	silent	SNP	0.029	T	T	15272415	C	T	15272415	2	4	154	1	0	0	0	0	0	0	0	1	10574	755	27	2		2	NOTCH3	19	15272415	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1072411	15272415	43856568	370	27788										
WIZ	58525	genome.wustl.edu	37	chr19	15547763	15547763	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggggggctgctcagcagcaGaggtggccagcagctcctgc	17	12	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:15547763G>C	ENST00000389282.4	-	4	2663	c.2450C>G	c.(2449-2451)tCt>tGt	p.S817C	WIZ_ENST00000263381.7_Missense_Mutation_p.S128C			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	817					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTCAGCAGCAGAGGTGGCCAG	0.682																																																	0													42	51	48					19																	15547763		2059	4191	6250	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2450C>G	19.37:g.15547763G>C	ENSP00000373933:p.Ser817Cys		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S817C	ENST00000389282.4	37	c.2450		19	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660190	0.47572	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03124	4.04	4.26	4.26	0.50523	.	0.173561	0.38663	N	0.001620	T	0.07143	0.0181	.	.	.	0.80722	D	1	P	0.52577	0.954	P	0.47162	0.54	T	0.08289	-1.0729	9	0.66056	D	0.02	-15.2832	11.6822	0.51463	0.0:0.1797:0.8203:0.0	.	128	O95785-2	.	C	817;128	ENSP00000373933:S817C	ENSP00000263381:S128C	S	-	2	0	WIZ	15408763	.	.	0.915000	0.36163	0.476000	0.33039	.	.	2.215000	0.71742	0.449000	0.29647	TCT	WIZ	-	NULL		0.682	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547763	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.946	C	C	15547763	G	C	15547763	3	2	154	1	0	0	0	0	1	0	0	0	17406	942	33	1	2025	1	WIZ	19	15547763	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	275348	15547763	43581220	371	27789										
EPS15L1	58513	genome.wustl.edu	37	chr19	16524625	16524625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tctgattgcctcttccttttCtcgaatgtcttgttccagtg	7	11	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:16524625C>T	ENST00000248070.6	-	13	1364	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	EPS15L1_ENST00000535753.2_Missense_Mutation_p.E409K|EPS15L1_ENST00000597937.1_Missense_Mutation_p.E409K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E409K|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E409K|EPS15L1_ENST00000602009.1_Missense_Mutation_p.E255K	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	409					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCTTCCTTTTCTCGAATGTCT	0.403																																																	0													222	180	194					19																	16524625		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1225G>A	19.37:g.16524625C>T	ENSP00000248070:p.Glu409Lys		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.E409K	ENST00000248070.6	37	c.1225	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761485	0.89932	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	D;D;D	0.83837	-1.77;-1.77;-1.77	4.62	4.62	0.57501	.	0.118236	0.56097	D	0.000030	T	0.77961	0.4209	L	0.59436	1.845	0.52501	D	0.99995	P;B;P;P;P;P	0.44986	0.594;0.212;0.722;0.847;0.615;0.716	B;B;B;B;B;B	0.39185	0.164;0.137;0.114;0.293;0.114;0.228	T	0.76844	-0.2809	10	0.08179	T	0.78	.	16.8399	0.85965	0.0:1.0:0.0:0.0	.	409;409;408;409;409;409	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	K	409	ENSP00000393313:E409K;ENSP00000248070:E409K;ENSP00000440103:E409K	ENSP00000248070:E409K	E	-	1	0	EPS15L1	16385625	1.000000	0.71417	0.979000	0.43373	0.926000	0.56050	4.744000	0.62118	2.285000	0.76669	0.561000	0.74099	GAA	EPS15L1	-	NULL		0.403	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	C	NM_021235		16524625	-1	no_errors	ENST00000455140	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16524625	C	T	16524625	3	4	154	1	0	0	0	0	1	0	0	0	5205	922	32	1	1413	1	EPS15L1	19	16524625	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	976862	16524625	42604358	372	27790										
FAM129C	199786	genome.wustl.edu	37	chr19	17664206	17664206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttgccagcaaagtcatctgCtaactggatattggcagctt	9	10	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:17664206C>T	ENST00000335393.4	+	16	2066	c.1928C>T	c.(1927-1929)gCt>gTt	p.A643V	FAM129C_ENST00000449408.2_Missense_Mutation_p.A369V|COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000601861.1_Missense_Mutation_p.A612V	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	643										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AAGTCATCTGCTAACTGGATA	0.502																																																	0													128	125	126					19																	17664206		2203	4300	6503	SO:0001583	missense	199786			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1928C>T	19.37:g.17664206C>T	ENSP00000335040:p.Ala643Val		B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.A643V	ENST00000335393.4	37	c.1928	CCDS12362.1	19	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.178824	0.01633	.	.	ENSG00000167483	ENST00000335393;ENST00000449408	T;T	0.28255	1.98;1.62	2.18	-0.0116	0.13991	.	.	.	.	.	T	0.15739	0.0379	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22521	-1.0214	9	0.66056	D	0.02	.	4.3096	0.10964	0.0:0.3873:0.0:0.6127	.	643	Q86XR2	NIBL2_HUMAN	V	643;369	ENSP00000335040:A643V;ENSP00000394929:A369V	ENSP00000335040:A643V	A	+	2	0	FAM129C	17525206	0.074000	0.21230	0.050000	0.19076	0.187000	0.23431	0.730000	0.26043	-0.054000	0.13266	0.306000	0.20318	GCT	FAM129C	-	NULL		0.502	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	C	NM_173544		17664206	1	no_errors	ENST00000335393	ensembl	human	known	70_37	missense	SNP	0.057	T	T	17664206	C	T	17664206	3	4	154	1	0	0	0	0	1	0	0	0	5453	797	28	4	2107	4	FAM129C	19	17664206	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1139581	17664206	41464777	373	27791										
MAST3	23031	genome.wustl.edu	37	chr19	18239690	18239690	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccctagagccgcgccctggtCggccagtcacggaggaagcc	14	16	1	1	rs377695566		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:18239690C>T	ENST00000262811.6	+	12	1065	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	355							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCGCCCTGGTCGGCCAGTCAC	0.607																																																	0								C		0,4008		0,0,2004	66	71	69		1065	-9.4	0	19		69	1,8337		0,1,4168	no	coding-synonymous	MAST3	NM_015016.1		0,1,6172	TT,TC,CC		0.012,0.0,0.0081		355/1310	18239690	1,12345	2004	4169	6173	SO:0001819	synonymous_variant	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1065C>T	19.37:g.18239690C>T			Q7LDZ8|Q9UPI0	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V355	ENST00000262811.6	37	c.1065	CCDS46014.1	19																																																																																			MAST3	-	NULL		0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18239690	1	no_errors	ENST00000262811	ensembl	human	known	70_37	silent	SNP	0.000	T	T	18239690	C	T	18239690	2	4	154	1	0	0	0	0	0	0	0	1	9349	871	31	1		1	MAST3	19	18239690	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	575484	18239690	40889293	374	27792										
UPF1	5976	genome.wustl.edu	37	chr19	18966783	18966783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcgccgtggaccagctaacgGagaagatccaccagacgggg	14	12	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:18966783G>A	ENST00000599848.1	+	12	1836	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	UPF1_ENST00000262803.5_Missense_Mutation_p.E532K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	543					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCAGCTAACGGAGAAGATCCA	0.612																																																	0													68	55	59					19																	18966783		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1627G>A	19.37:g.18966783G>A	ENSP00000470142:p.Glu543Lys		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.E543K	ENST00000599848.1	37	c.1627		19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087713	0.76642	.	.	ENSG00000005007	ENST00000262803	D	0.84070	-1.8	4.46	4.46	0.54185	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.80616	2.505	0.80722	D	1	B;B	0.23128	0.08;0.065	B;B	0.32805	0.153;0.047	D	0.85866	0.1413	10	0.66056	D	0.02	-48.247	16.4279	0.83824	0.0:0.0:1.0:0.0	.	543;532	Q92900;Q92900-2	RENT1_HUMAN;.	K	532	ENSP00000262803:E532K	ENSP00000262803:E532K	E	+	1	0	UPF1	18827783	1.000000	0.71417	0.929000	0.37066	0.683000	0.39861	9.128000	0.94424	2.199000	0.70637	0.655000	0.94253	GAG	UPF1	-	pfam_Helicase/UvrB_dom		0.612	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	G	NM_002911		18966783	1	no_errors	ENST00000599848	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18966783	G	A	18966783	3	1	154	1	0	0	0	0	1	0	0	0	17034	1175	41	1	1640	1	UPF1	19	18966783	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	727093	18966783	40162200	375	27793										
HOMER3	9454	genome.wustl.edu	37	chr19	19049681	19049681	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acgtgcgcccgtgtgctgaaGattggctgctccctgcgtgg	15	12	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:19049681G>C	ENST00000539827.1	-	2	679	c.27C>G	c.(25-27)atC>atG	p.I9M	HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000594439.1_Missense_Mutation_p.I9M|HOMER3_ENST00000542541.2_Missense_Mutation_p.I9M|AC005932.1_ENST00000601106.1_RNA|HOMER3_ENST00000433218.2_Missense_Mutation_p.I9M|HOMER3_ENST00000221222.11_Missense_Mutation_p.I9M|HOMER3_ENST00000392351.3_Missense_Mutation_p.I9M|HOMER3_ENST00000355887.6_Missense_Mutation_p.I9M			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	9	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			GTGTGCTGAAGATTGGCTGCT	0.617																																																	0													70	56	61					19																	19049681		2202	4300	6502	SO:0001583	missense	9454			Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.27C>G	19.37:g.19049681G>C	ENSP00000439937:p.Ile9Met		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.I9M	ENST00000539827.1	37	c.27	CCDS12391.1	19	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185323	0.57909	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000357832;ENST00000355887	D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	3.85	2.81	0.32909	EVH1 (3);Pleckstrin homology-type (1);	0.113366	0.56097	D	0.000025	D	0.98814	0.9600	M	0.85710	2.77	0.80722	D	1	P;P;D	0.53619	0.916;0.951;0.961	P;P;P	0.58577	0.638;0.754;0.841	D	0.98842	1.0755	10	0.87932	D	0	-2.8477	5.9511	0.19246	0.0994:0.0:0.712:0.1886	.	9;9;9	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	M	9	ENSP00000376162:I9M;ENSP00000396154:I9M;ENSP00000446026:I9M;ENSP00000221222:I9M;ENSP00000439937:I9M;ENSP00000348150:I9M	ENSP00000221222:I9M	I	-	3	3	HOMER3	18910681	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.565000	0.36386	0.953000	0.37825	0.561000	0.74099	ATC	HOMER3	-	pfam_EVH1,smart_EVH1,pfscan_EVH1		0.617	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HOMER3	HGNC	protein_coding	OTTHUMT00000464607.1	G			19049681	-1	no_errors	ENST00000392351	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19049681	G	C	19049681	3	2	154	1	0	0	0	0	1	0	0	0	7300	932	33	1	1090	1	HOMER3	19	19049681	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	82898	19049681	40079302	376	27794										
SLC25A42	284439	genome.wustl.edu	37	chr19	19216387	19216387	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	caggaggccttccgggtcctCtactacacctacctcaacga	8	16	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:19216387C>G	ENST00000318596.7	+	5	382	c.231C>G	c.(229-231)ctC>ctG	p.L77L	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	77					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCGGGTCCTCTACTACACCT	0.637																																																	0													82	63	70					19																	19216387		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.231C>G	19.37:g.19216387C>G			D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L77	ENST00000318596.7	37	c.231	CCDS32966.1	19																																																																																			SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.637	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19216387	1	no_errors	ENST00000318596	ensembl	human	known	70_37	silent	SNP	1.000	G	G	19216387	C	G	19216387	2	3	154	1	0	0	0	0	0	0	0	1	14537	900	32	1		1	SLC25A42	19	19216387	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	166706	19216387	39912596	377	27795										
KIAA0892	23383	genome.wustl.edu	37	chr19	19452111	19452111	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtgcacccgctgctgaccctCtgcgggcagatcgtggagaa	14	13	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:19452111C>G	ENST00000392313.6	+	7	809	c.630C>G	c.(628-630)ctC>ctG	p.L210L	MAU2_ENST00000262815.8_Silent_p.L210L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	210					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCTGACCCTCTGCGGGCAGA	0.642																																																	0													40	47	45					19																	19452111		2068	4209	6277	SO:0001819	synonymous_variant	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.630C>G	19.37:g.19452111C>G			Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.L210	ENST00000392313.6	37	c.630	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor		0.642	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	C	NM_015329		19452111	1	no_errors	ENST00000262815	ensembl	human	known	70_37	silent	SNP	1.000	G	G	19452111	C	G	19452111	2	3	154	1	0	0	0	0	0	0	0	1	8216	900	32	1		1	KIAA0892	19	19452111	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	235724	19452111	39676872	378	27796										
ZNF99	7652	genome.wustl.edu	37	chr19	22939111	22939111	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtaggttttccctccagtatGaattgttttatgttgagtaa	9	5	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:22939111G>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.H1004Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTCCAGTATGAATTGTTTTA	0.373																																																	0													56	75	69					19																	22939111		1974	4276	6250	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939111G>A			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H1004Y	ENST00000596209.1	37	c.3010	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	13.75	2.329881	0.41297	.	.	ENSG00000213973	ENST00000397104	D	0.81908	-1.55	1.2	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83723	0.5316	.	.	.	0.28057	N	0.933112	B	0.33940	0.433	P	0.46585	0.521	T	0.78342	-0.2241	8	0.87932	D	0	.	9.4278	0.38590	0.0:0.0:1.0:0.0	.	1003	A8MXY4	ZNF99_HUMAN	Y	1004	ENSP00000380293:H1004Y	ENSP00000380293:H1004Y	H	-	1	0	ZNF99	22730951	0.999000	0.42202	0.002000	0.10522	0.017000	0.09413	3.122000	0.50446	0.657000	0.30906	0.369000	0.22263	CAT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	G	XM_065124		22939111	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.993	A	A	22939111	G	A	22939111	1	1	154	0	1	0	0	0	0	0	0	0	18234	1290	45	1		1	ZNF99	19	22939111	IGR	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	3487000	22939111	36189872	379	27797										
ZNF91	7644	genome.wustl.edu	37	chr19	23545029	23545029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttttatgtgtagtaagggttGagagctgcttaaaagctttg	12	3	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:23545029G>A	ENST00000300619.7	-	4	957	c.752C>T	c.(751-753)tCa>tTa	p.S251L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S219L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	251					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTAAGGGTTGAGAGCTGCTT	0.368																																																	0													100	112	108					19																	23545029		2174	4290	6464	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.752C>T	19.37:g.23545029G>A	ENSP00000300619:p.Ser251Leu		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S251L	ENST00000300619.7	37	c.752	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133008	0.37630	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	1.66	-3.32	0.04973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	M	0.77712	2.385	0.09310	N	1	P;B	0.40282	0.711;0.049	B;B	0.29598	0.104;0.059	T	0.22941	-1.0202	9	0.62326	D	0.03	.	4.8393	0.13481	0.0:0.1846:0.4464:0.369	.	219;251	Q05481-2;Q05481	.;ZNF91_HUMAN	L	251;219	ENSP00000300619:S251L;ENSP00000380272:S219L	ENSP00000300619:S251L	S	-	2	0	ZNF91	23336869	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.555000	0.00113	-0.025000	0.13918	0.174000	0.16983	TCA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23545029	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.000	A	A	23545029	G	A	23545029	3	1	154	1	0	0	0	0	1	0	0	0	18230	1294	45	1	2827	1	ZNF91	19	23545029	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	605918	23545029	35583954	380	27798										
CCNE1	898	genome.wustl.edu	37	chr19	30314669	30314669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggtaagaagcagagcagcggGccggaaatggcgtgaccacc	16	10	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:30314669G>T	ENST00000262643.3	+	12	1497	c.1218G>T	c.(1216-1218)ggG>ggT	p.G406G	CCNE1_ENST00000444983.2_Silent_p.G391G|CCNE1_ENST00000357943.5_Silent_p.G363G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	406					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGAGCAGCGGGCCGGAAATGG	0.587			A		serous ovarian																																			Dom	yes		19	19q12	898	cyclin E1		E	0													76	75	75					19																	30314669		2203	4300	6503	SO:0001819	synonymous_variant	898			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.1218G>T	19.37:g.30314669G>T			A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G406	ENST00000262643.3	37	c.1218	CCDS12419.1	19																																																																																			CCNE1	-	NULL		0.587	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE1	HGNC	protein_coding	OTTHUMT00000438138.1	G	NM_001238		30314669	1	no_errors	ENST00000262643	ensembl	human	known	70_37	silent	SNP	0.110	T	T	30314669	G	T	30314669	2	4	154	1	0	0	0	0	0	0	0	1	2925	1190	42	4		4	CCNE1	19	30314669	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	6769640	30314669	28814314	381	27799										
RYR1	6261	genome.wustl.edu	37	chr19	38990368	38990368	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctgcggggtgagggtggctCagggctgctggctgccatcg	19	11	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:38990368C>G	ENST00000359596.3	+	44	7121	c.7121C>G	c.(7120-7122)tCa>tGa	p.S2374*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.S2374*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.S2374*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2374	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGGGTGGCTCAGGGCTGCTG	0.692																																																	0													31	27	28					19																	38990368		2202	4299	6501	SO:0001587	stop_gained	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7121C>G	19.37:g.38990368C>G	ENSP00000352608:p.Ser2374*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S2374*	ENST00000359596.3	37	c.7121	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	49	15.440450	0.99834	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	3.99	3.99	0.46301	.	0.178649	0.32473	U	0.006060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.5503	0.39306	0.3667:0.6333:0.0:0.0	.	.	.	.	X	2374	.	ENSP00000347667:S2374X	S	+	2	0	RYR1	43682208	0.785000	0.28726	1.000000	0.80357	0.974000	0.67602	1.835000	0.39181	2.045000	0.60652	0.297000	0.19635	TCA	RYR1	-	NULL		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38990368	1	no_errors	ENST00000359596	ensembl	human	known	70_37	nonsense	SNP	0.998	G	G	38990368	C	G	38990368	4	3	154	1	0	0	0	0	0	1	0	0	13798	838	29	1	7295	1	RYR1	19	38990368	Nonsense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	8675699	38990368	20138615	382	27800										
HIPK4	147746	genome.wustl.edu	37	chr19	40895684	40895684	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttgcggtaggcgtcattcttGaggatcttgatggccaccat	12	9	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:40895684G>C	ENST00000291823.2	-	1	410	c.126C>G	c.(124-126)ctC>ctG	p.L42L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CGTCATTCTTGAGGATCTTGA	0.607																																																	0													146	120	129					19																	40895684		2203	4300	6503	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.126C>G	19.37:g.40895684G>C			A8K863|Q96M54	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L42	ENST00000291823.2	37	c.126	CCDS12555.1	19																																																																																			HIPK4	-	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		0.607	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	G	NM_144685		40895684	-1	no_errors	ENST00000291823	ensembl	human	known	70_37	silent	SNP	1.000	C	C	40895684	G	C	40895684	2	2	154	1	0	0	0	0	0	0	0	1	7139	1277	45	1		1	HIPK4	19	40895684	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1905316	40895684	18233299	383	27801										
ITPKC	80271	genome.wustl.edu	37	chr19	41223322	41223322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gaattctggacagacggacaGactgagcccgcggcagctgg	15	11	1	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:41223322G>C	ENST00000263370.2	+	1	315	c.282G>C	c.(280-282)caG>caC	p.Q94H	ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	94					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAGACGGACAGACTGAGCCCG	0.657																																																	0													25	30	28					19																	41223322		2202	4297	6499	SO:0001583	missense	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.282G>C	19.37:g.41223322G>C	ENSP00000263370:p.Gln94His		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.Q94H	ENST00000263370.2	37	c.282	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	G	0.718	-0.784503	0.02907	.	.	ENSG00000086544	ENST00000263370	.	.	.	4.28	0.499	0.16914	.	0.967681	0.08450	N	0.944112	T	0.17619	0.0423	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24621	-1.0155	9	0.34782	T	0.22	-2.2405	5.7395	0.18085	0.1951:0.2164:0.5885:0.0	.	94	Q96DU7	IP3KC_HUMAN	H	94	.	ENSP00000263370:Q94H	Q	+	3	2	ITPKC	45915162	0.119000	0.22226	0.002000	0.10522	0.016000	0.09150	0.954000	0.29175	0.099000	0.17552	-0.350000	0.07774	CAG	ITPKC	-	NULL		0.657	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	G	NM_025194		41223322	1	no_errors	ENST00000263370	ensembl	human	known	70_37	missense	SNP	0.005	C	C	41223322	G	C	41223322	3	2	154	1	0	0	0	0	1	0	0	0	7939	933	33	1	284	1	ITPKC	19	41223322	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	327638	41223322	17905661	384	27802										
GRIK5	2901	genome.wustl.edu	37	chr19	42526474	42526474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	accttctcccgctcagctgtGatggtgaaggcggccacagc	12	14	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:42526474G>A	ENST00000262895.3	-	12	1505	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	GRIK5_ENST00000593562.1_Silent_p.I502I|GRIK5_ENST00000301218.4_Silent_p.I502I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	502					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GCTCAGCTGTGATGGTGAAGG	0.592																																																	0													84	66	72					19																	42526474		2203	4300	6503	SO:0001819	synonymous_variant	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1506C>T	19.37:g.42526474G>A			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I502	ENST00000262895.3	37	c.1506	CCDS12595.1	19																																																																																			GRIK5	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.592	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	G			42526474	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42526474	G	A	42526474	2	1	154	1	0	0	0	0	0	0	0	1	6797	1280	45	1		1	GRIK5	19	42526474	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1303152	42526474	16602509	385	27803										
PSG4	5672	genome.wustl.edu	37	chr19	43708175	43708175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cattggaatatactctttctCttccactgtatgcaggccca	6	12	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:43708175C>G	ENST00000405312.3	-	2	530	c.293G>C	c.(292-294)aGa>aCa	p.R98T	PSG4_ENST00000244295.9_Missense_Mutation_p.R98T|PSG4_ENST00000433626.2_Missense_Mutation_p.R98T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	98	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TACTCTTTCTCTTCCACTGTA	0.428																																																	0													255	266	263					19																	43708175		2131	4271	6402	SO:0001583	missense	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.293G>C	19.37:g.43708175C>G	ENSP00000384770:p.Arg98Thr		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R98T	ENST00000405312.3	37	c.293	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	N	11.74	1.728964	0.30684	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	1.65	1.65	0.23941	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84456	0.5476	M	0.91972	3.26	0.09310	N	1	P;D;D	0.89917	0.939;1.0;0.998	D;D;D	0.97110	0.949;1.0;0.967	T	0.70249	-0.4924	9	0.87932	D	0	.	6.8053	0.23774	0.0:1.0:0.0:0.0	.	98;98;98	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	T	98;98;98;114	ENSP00000244295:R98T;ENSP00000384770:R98T;ENSP00000387864:R98T;ENSP00000388134:R114T	ENSP00000244295:R98T	R	-	2	0	PSG4	48400015	0.018000	0.18449	0.007000	0.13788	0.022000	0.10575	0.661000	0.25023	1.251000	0.43983	0.173000	0.16961	AGA	PSG4	-	pfam_Ig_V-set,smart_Ig_sub		0.428	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	C	NM_213633		43708175	-1	no_errors	ENST00000405312	ensembl	human	known	70_37	missense	SNP	0.007	G	G	43708175	C	G	43708175	3	3	154	1	0	0	0	0	1	0	0	0	12684	913	32	1	986	1	PSG4	19	43708175	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1181701	43708175	15420808	386	27804										
ETHE1	23474	genome.wustl.edu	37	chr19	44012939	44012939	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gccctcaccatggtaatcgtGagcagggtagatcagacagt	12	10	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:44012939G>A	ENST00000292147.2	-	5	649	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	ETHE1_ENST00000600651.1_Missense_Mutation_p.H195Y	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	195					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGTAATCGTGAGCAGGGTAG	0.493																																																	0													98	76	83					19																	44012939		2203	4300	6503	SO:0001583	missense	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.583C>T	19.37:g.44012939G>A	ENSP00000292147:p.His195Tyr		Q96HR0|Q9H001	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.H195Y	ENST00000292147.2	37	c.583	CCDS12622.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605679	0.87157	.	.	ENSG00000105755	ENST00000292147	D	0.93076	-3.16	5.13	5.13	0.70059	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.99847	4.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99402	1.0928	10	0.87932	D	0	-17.1399	16.5143	0.84295	0.0:0.0:1.0:0.0	.	168;195	B2RCZ7;O95571	.;ETHE1_HUMAN	Y	195	ENSP00000292147:H195Y	ENSP00000292147:H195Y	H	-	1	0	ETHE1	48704779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.861000	0.87004	2.578000	0.87016	0.650000	0.86243	CAC	ETHE1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.493	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	G	NM_014297		44012939	-1	no_errors	ENST00000292147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44012939	G	A	44012939	3	1	154	1	0	0	0	0	1	0	0	0	5284	1290	45	1	193	1	ETHE1	19	44012939	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	304764	44012939	15116044	387	27805										
CLPTM1	1209	genome.wustl.edu	37	chr19	45493813	45493813	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	attggggtcctcatcgacctCtggaagatcaccaaggtcat	10	11	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:45493813C>G	ENST00000337392.5	+	10	1443	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	CLPTM1_ENST00000546079.1_Silent_p.L329L|CLPTM1_ENST00000541297.2_Silent_p.L417L	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	431					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCATCGACCTCTGGAAGATCA	0.602																																																	0													99	95	96					19																	45493813		2203	4300	6503	SO:0001819	synonymous_variant	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1293C>G	19.37:g.45493813C>G			B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	pfam_CLPTM1	p.L431	ENST00000337392.5	37	c.1293	CCDS12651.1	19																																																																																			CLPTM1	-	pfam_CLPTM1		0.602	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	HGNC	protein_coding	OTTHUMT00000453267.1	C	NM_001294		45493813	1	no_errors	ENST00000337392	ensembl	human	known	70_37	silent	SNP	1.000	G	G	45493813	C	G	45493813	2	3	154	1	0	0	0	0	0	0	0	1	3559	900	32	1		1	CLPTM1	19	45493813	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1480874	45493813	13635170	388	27806										
FBXO46	23403	genome.wustl.edu	37	chr19	46216131	46216131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atcccacccccttggccggtCcaccttgctcggcggacaca	9	19	0	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:46216131C>T	ENST00000317683.3	-	2	756	c.623G>A	c.(622-624)gGa>gAa	p.G208E		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	208										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTTGGCCGGTCCACCTTGCTC	0.682																																																	0													18	22	21					19																	46216131		1993	4135	6128	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.623G>A	19.37:g.46216131C>T	ENSP00000410007:p.Gly208Glu			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.G208E	ENST00000317683.3	37	c.623	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302804	0.01353	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.04	2.91	0.33838	.	.	.	.	.	T	0.20700	0.0498	N	0.22421	0.69	0.09310	N	1	P	0.42518	0.782	B	0.37304	0.246	T	0.03017	-1.1082	8	0.08179	T	0.78	-12.6023	11.6251	0.51139	0.0:0.8182:0.1818:0.0	.	208	Q6PJ61	FBX46_HUMAN	E	208	.	ENSP00000410007:G208E	G	-	2	0	FBXO46	50907971	0.000000	0.05858	0.926000	0.36857	0.137000	0.21094	0.473000	0.22132	2.278000	0.76064	0.563000	0.77884	GGA	FBXO46	-	NULL		0.682	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	C	XM_371179		46216131	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.133	T	T	46216131	C	T	46216131	3	4	154	1	0	0	0	0	1	0	0	0	5773	855	30	1	1192	1	FBXO46	19	46216131	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	722318	46216131	12912852	389	27807										
PPP5C	5536	genome.wustl.edu	37	chr19	46857221	46857221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	catggcactgggcaagttccGggccgcgctgcgagactacg	15	13	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:46857221G>A	ENST00000012443.4	+	2	441	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	PPP5C_ENST00000391919.1_Missense_Mutation_p.R7Q	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	113					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GGCAAGTTCCGGGCCGCGCTG	0.657																																																	0													25	21	22					19																	46857221		2202	4298	6500	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.338G>A	19.37:g.46857221G>A	ENSP00000012443:p.Arg113Gln		Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.R113Q	ENST00000012443.4	37	c.338	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428380	0.62844	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.61859	0.07;1.64	5.07	2.51	0.30379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.066223	0.56097	D	0.000025	T	0.33411	0.0862	N	0.17838	0.53	0.39482	D	0.9679	B;B	0.27416	0.178;0.001	B;B	0.19148	0.024;0.002	T	0.18808	-1.0325	10	0.42905	T	0.14	-19.8327	3.4712	0.07567	0.2164:0.2391:0.5445:0.0	.	113;113	B2R6R6;P53041	.;PPP5_HUMAN	Q	113;100;7	ENSP00000012443:R113Q;ENSP00000375786:R7Q	ENSP00000012443:R113Q	R	+	2	0	PPP5C	51549061	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.836000	0.75349	1.234000	0.43709	0.462000	0.41574	CGG	PPP5C	-	pfam_TPR-1,smart_TPR_repeat,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.657	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	G	NM_006247		46857221	1	no_errors	ENST00000012443	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46857221	G	A	46857221	3	1	154	1	0	0	0	0	1	0	0	0	12433	1116	39	2	344	2	PPP5C	19	46857221	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	641090	46857221	12271762	390	27808										
CCDC9	26093	genome.wustl.edu	37	chr19	47764056	47764056	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccgaggttcacctcacctctCtggagctggagacacctcaa	9	15	4	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:47764056C>T	ENST00000221922.6	+	5	644	c.422C>T	c.(421-423)tCt>tTt	p.S141F		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	141	Gly-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCACCTCTCTGGAGCTGGA	0.647																																																	0													36	37	36					19																	47764056		2203	4297	6500	SO:0001583	missense	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.422C>T	19.37:g.47764056C>T	ENSP00000221922:p.Ser141Phe			Missense_Mutation	SNP	NULL	p.S141F	ENST00000221922.6	37	c.422	CCDS12698.1	19	.	.	.	.	.	.	.	.	.	.	N	11.22	1.574970	0.28092	.	.	ENSG00000105321	ENST00000221922	T	0.23950	1.88	3.32	2.27	0.28462	.	0.763113	0.11531	N	0.554709	T	0.20536	0.0494	L	0.44542	1.39	0.26392	N	0.976562	P	0.44429	0.835	B	0.40066	0.318	T	0.10520	-1.0626	10	0.46703	T	0.11	-5.0365	6.2642	0.20917	0.0:0.8567:0.0:0.1433	.	141	Q9Y3X0	CCDC9_HUMAN	F	141	ENSP00000221922:S141F	ENSP00000221922:S141F	S	+	2	0	CCDC9	52455896	0.014000	0.17966	0.994000	0.49952	0.788000	0.44548	0.758000	0.26447	0.735000	0.32537	0.431000	0.28591	TCT	CCDC9	-	NULL		0.647	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC9	HGNC	protein_coding	OTTHUMT00000466917.1	C	NM_015603		47764056	1	no_errors	ENST00000221922	ensembl	human	known	70_37	missense	SNP	0.997	T	T	47764056	C	T	47764056	3	4	154	1	0	0	0	0	1	0	0	0	2872	913	32	1	436	1	CCDC9	19	47764056	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	906835	47764056	11364927	391	27809										
MBOAT7	79143	genome.wustl.edu	37	chr19	54691159	54691159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agtccaggccagagccagggCgtggcaggagctgggcaaaa	17	10	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:54691159C>T	ENST00000245615.1	-	4	697	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Intron|TSEN34_ENST00000429671.2_5'Flank|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000391754.1_Missense_Mutation_p.A73T	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	73					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGAGCCAGGGCGTGGCAGGAG	0.632																																					NSCLC(97;826 2151 10470 22540)												0													50	59	56					19																	54691159		2195	4299	6494	SO:0001583	missense	79143			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.217G>A	19.37:g.54691159C>T	ENSP00000245615:p.Ala73Thr		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.A73T	ENST00000245615.1	37	c.217	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622580	0.28889	.	.	ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320	T;T;T	0.43688	2.24;1.52;0.94	3.89	1.52	0.23074	.	0.145782	0.45126	D	0.000398	T	0.25005	0.0607	L	0.34521	1.04	0.29001	N	0.887448	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.003	T	0.09292	-1.0681	10	0.22109	T	0.4	-12.3691	4.8863	0.13704	0.3973:0.4901:0.0:0.1125	.	55;73	B4DDH8;Q96N66	.;MBOA7_HUMAN	T	73;25;73;73;73	ENSP00000245615:A73T;ENSP00000375634:A73T;ENSP00000388250:A73T	ENSP00000245615:A73T	A	-	1	0	MBOAT7	59382971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.820000	0.27323	0.782000	0.33613	0.650000	0.86243	GCC	MBOAT7	-	NULL		0.632	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	C	NM_024298		54691159	-1	no_errors	ENST00000245615	ensembl	human	known	70_37	missense	SNP	0.995	T	T	54691159	C	T	54691159	3	4	154	1	0	0	0	0	1	0	0	0	9381	768	27	2	1225	2	MBOAT7	19	54691159	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	6927103	54691159	4437824	392	27810										
ZNF579	163033	genome.wustl.edu	37	chr19	56089506	56089506	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atgtttgcgaggggcagcggGagcccttcttcctcctgctc	13	13	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:56089506G>A	ENST00000325421.4	-	2	1528	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	500	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGGGCAGCGGGAGCCCTTCTT	0.731																																																	0													12	11	11					19																	56089506		2038	4043	6081	SO:0001819	synonymous_variant	163033			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1500C>T	19.37:g.56089506G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L500	ENST00000325421.4	37	c.1500	CCDS12927.1	19																																																																																			ZNF579	-	NULL		0.731	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1	G	NM_152600		56089506	-1	no_errors	ENST00000325421	ensembl	human	known	70_37	silent	SNP	0.816	A	A	56089506	G	A	56089506	2	1	154	1	0	0	0	0	0	0	0	1	18041	1161	41	1		1	ZNF579	19	56089506	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1398347	56089506	3039477	393	27811										
ZNF544	27300	genome.wustl.edu	37	chr19	58772318	58772318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtacaggagtggaccggagGagccaccctctttggtatta	13	9	1	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:58772318G>A	ENST00000596652.1	+	6	580	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.E116K|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.E88K|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000594384.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.E88K|ZNF544_ENST00000600044.1_Missense_Mutation_p.E88K|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGGACCGGAGGAGCCACCCTC	0.488																																																	0													75	72	73					19																	58772318		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.346G>A	19.37:g.58772318G>A	ENSP00000469635:p.Glu116Lys		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E116K	ENST00000596652.1	37	c.346	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	3.753	-0.051128	0.07407	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.06849	3.29;3.25	3.03	1.92	0.25849	.	.	.	.	.	T	0.03136	0.0092	N	0.03608	-0.345	0.09310	N	1	P;P;B	0.37330	0.59;0.59;0.336	B;B;B	0.34093	0.175;0.175;0.087	T	0.44726	-0.9309	9	0.18710	T	0.47	.	7.8263	0.29318	0.0:0.2591:0.7409:0.0	.	88;88;116	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	K	116;88	ENSP00000269829:E116K;ENSP00000394341:E88K	ENSP00000269829:E116K	E	+	1	0	ZNF544	63464130	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.366000	0.20365	0.564000	0.29238	0.655000	0.94253	GAG	ZNF544	-	NULL		0.488	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	G	NM_014480		58772318	1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.001	A	A	58772318	G	A	58772318	3	1	154	1	0	0	0	0	1	0	0	0	18007	1175	41	1	360	1	ZNF544	19	58772318	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2682812	58772318	356665	394	27812										
ZNF8	7554	genome.wustl.edu	37	chr19	58797541	58797541	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggaccgagctatgggtggctGagagaggaaccacccagggc	17	10	0	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr19:58797541G>T	ENST00000196548.5	+	3	390	c.259G>T	c.(259-261)Gag>Tag	p.E87*	ZNF8_ENST00000608843.1_Nonsense_Mutation_p.E87*|AC010642.1_ENST00000591325.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ATGGGTGGCTGAGAGAGGAAC	0.577																																																	0													55	48	50					19																	58797541		2203	4300	6503	SO:0001587	stop_gained	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.259G>T	19.37:g.58797541G>T	ENSP00000196548:p.Glu87*		Q6PI99	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E87*	ENST00000196548.5	37	c.259	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523508	0.85600	.	.	ENSG00000083842	ENST00000196548	.	.	.	5.15	4.11	0.48088	.	0.481779	0.17534	N	0.170769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-9.0938	9.8679	0.41154	0.096:0.0:0.904:0.0	.	.	.	.	X	87	.	ENSP00000196548:E87X	E	+	1	0	ZNF8	63489353	0.007000	0.16637	0.146000	0.22360	0.033000	0.12548	1.095000	0.30964	1.294000	0.44707	0.561000	0.74099	GAG	ZNF8	-	pfscan_Krueppel-associated_box		0.577	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58797541	1	no_errors	ENST00000196548	ensembl	human	known	70_37	nonsense	SNP	0.110	T	T	58797541	G	T	58797541	4	4	154	1	0	0	0	0	0	1	0	0	18197	1291	45	3	269	3	ZNF8	19	58797541	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	25223	58797541	331442	395	27813										
XRN2	22803	genome.wustl.edu	37	chr20	21314412	21314412	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgagaggagcattgatgactGggttttcatgtgcttctttg	13	5	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr20:21314412G>A	ENST00000377191.3	+	11	1099	c.1004G>A	c.(1003-1005)tGg>tAg	p.W335*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.W281*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.W259*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	335					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATTGATGACTGGGTTTTCATG	0.408																																																	0													307	282	291					20																	21314412		2203	4300	6503	SO:0001587	stop_gained	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1004G>A	20.37:g.21314412G>A	ENSP00000366396:p.Trp335*		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.W335*	ENST00000377191.3	37	c.1004	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.111925	0.98070	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6303	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	X	335;259;281	.	ENSP00000366396:W335X	W	+	2	0	XRN2	21262412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.756000	0.94617	0.655000	0.94253	TGG	XRN2	-	pirsf_5_3_exoribonuclease_2		0.408	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	G	NM_012255		21314412	1	no_errors	ENST00000377191	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	21314412	G	A	21314412	4	1	154	1	0	0	0	0	0	1	0	0	17491	1357	47	4	1046	4	XRN2	20	21314412	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		21314412	41711108	396	27814										
MYH7B	57644	genome.wustl.edu	37	chr20	33565461	33565461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	taaaaggggtagcagagcttCctgccctcaccgtggtgccg	13	12	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr20:33565461C>A	ENST00000262873.7	+	2	124	c.32C>A	c.(31-33)tCc>tAc	p.S11Y		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	0						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCAGAGCTTCCTGCCCTCAC	0.642																																																	0													27	26	26					20																	33565461		2019	4175	6194	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.32C>A	20.37:g.33565461C>A	ENSP00000262873:p.Ser11Tyr		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S11Y	ENST00000262873.7	37	c.32	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380965	0.42207	.	.	ENSG00000078814	ENST00000262873	D	0.86297	-2.1	5.44	4.5	0.54988	.	.	.	.	.	D	0.86464	0.5939	.	.	.	0.23056	N	0.998369	.	.	.	.	.	.	T	0.79519	-0.1770	6	0.87932	D	0	.	7.273	0.26268	0.1666:0.747:0.0:0.0864	.	.	.	.	Y	11	ENSP00000262873:S11Y	ENSP00000262873:S11Y	S	+	2	0	MYH7B	33029122	0.997000	0.39634	1.000000	0.80357	0.779000	0.44077	2.837000	0.48191	1.305000	0.44909	0.609000	0.83330	TCC	MYH7B	-	NULL		0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	C	NM_020884		33565461	1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	33565461	C	A	33565461	3	1	154	1	0	0	0	0	1	0	0	0	10063	855	30	3	38	3	MYH7B	20	33565461	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	12251049	33565461	29460059	397	27815										
PTPRT	11122	genome.wustl.edu	37	chr20	40877392	40877392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	atgaggaggccagcgatcacGccagccatcttcacggtgtt	12	12	3	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr20:40877392G>A	ENST00000373187.1	-	14	2246	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	PTPRT_ENST00000373198.4_Silent_p.G768G|PTPRT_ENST00000373190.1_Silent_p.G749G|PTPRT_ENST00000373201.1_Silent_p.G749G|PTPRT_ENST00000356100.2_Silent_p.G768G|PTPRT_ENST00000373193.3_Silent_p.G749G|PTPRT_ENST00000373184.1_Silent_p.G749G			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	749					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCGATCACGCCAGCCATCT	0.537																																																	0																																										SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2247C>T	20.37:g.40877392G>A			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G768	ENST00000373187.1	37	c.2304	CCDS42874.1	20																																																																																			PTPRT	-	NULL		0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40877392	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.542	A	A	40877392	G	A	40877392	2	1	154	1	0	0	0	0	0	0	0	1	12842	1074	38	2		2	PTPRT	20	40877392	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7311931	40877392	22148128	398	27816										
SDC4	6385	genome.wustl.edu	37	chr20	43959178	43959178	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tggctcccagaccctgccctCtcagggatatggttatctag	10	13	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr20:43959178C>T	ENST00000372733.3	-	4	312	c.273G>A	c.(271-273)gaG>gaA	p.E91E	SDC4_ENST00000537976.1_Silent_p.E19E	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	91					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				ACCCTGCCCTCTCAGGGATAT	0.532			T	ROS1	NSCLC																																			Dom	yes		20	20q12	6385	syndecan 4		E	0													67	59	62					20																	43959178		2203	4300	6503	SO:0001819	synonymous_variant	6385			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.273G>A	20.37:g.43959178C>T			O00773|Q16833|Q53FN9|Q6FGN3	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.E91	ENST00000372733.3	37	c.273	CCDS13350.1	20																																																																																			SDC4	-	NULL		0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC4	HGNC	protein_coding	OTTHUMT00000080515.1	C	NM_002999		43959178	-1	no_errors	ENST00000372733	ensembl	human	known	70_37	silent	SNP	0.707	T	T	43959178	C	T	43959178	2	4	154	1	0	0	0	0	0	0	0	1	13984	912	32	1		1	SDC4	20	43959178	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	3081786	43959178	19066342	399	27817										
NCOA5	57727	genome.wustl.edu	37	chr20	44692204	44692204	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggatggcttcatcggccatCttggctgcctgtctggcaat	12	11	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr20:44692204C>G	ENST00000290231.6	-	7	1109	c.945G>C	c.(943-945)aaG>aaC	p.K315N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CATCGGCCATCTTGGCTGCCT	0.587																																																	0													63	57	59					20																	44692204		2203	4300	6503	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.945G>C	20.37:g.44692204C>G	ENSP00000290231:p.Lys315Asn		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.K315N	ENST00000290231.6	37	c.945	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844817	0.51164	.	.	ENSG00000124160	ENST00000290231	T	0.51817	0.69	5.41	3.45	0.39498	Anticodon-binding (1);	0.081286	0.85682	D	0.000000	T	0.57184	0.2036	L	0.46157	1.445	0.54753	D	0.999987	D	0.76494	0.999	D	0.72075	0.976	T	0.56559	-0.7959	10	0.62326	D	0.03	-4.5386	8.8649	0.35280	0.0:0.77:0.0:0.23	.	315	Q9HCD5	NCOA5_HUMAN	N	315	ENSP00000290231:K315N	ENSP00000290231:K315N	K	-	3	2	NCOA5	44125611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.691000	0.37721	0.820000	0.34516	0.561000	0.74099	AAG	NCOA5	-	superfamily_Anticodon-bd		0.587	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	C	NM_020967		44692204	-1	no_errors	ENST00000290231	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44692204	C	G	44692204	3	3	154	1	0	0	0	0	1	0	0	0	10256	912	32	1	802	1	NCOA5	20	44692204	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	733026	44692204	18333316	400	27818										
KRTAP13-3	337960	genome.wustl.edu	37	chr21	31798199	31798199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aacccccgtgggagcaggagGagaagtttctagagcaacag	14	9	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr21:31798199G>A	ENST00000390690.2	-	1	87	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	11						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GGAGCAGGAGGAGAAGTTTCT	0.542																																																	0													87	89	88					21																	31798199		2203	4300	6503	SO:0001583	missense	337960			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.32C>T	21.37:g.31798199G>A	ENSP00000375109:p.Ser11Phe		Q3LI78	Missense_Mutation	SNP	pfam_PMG	p.S11F	ENST00000390690.2	37	c.32	CCDS13591.1	21	.	.	.	.	.	.	.	.	.	.	-	13.57	2.277957	0.40294	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.08984	3.03	4.81	4.81	0.61882	.	0.188870	0.25397	U	0.030978	T	0.27134	0.0665	M	0.78916	2.43	0.24595	N	0.993808	D	0.61697	0.99	D	0.63597	0.916	T	0.02736	-1.1117	10	0.56958	D	0.05	-12.1826	14.0947	0.65013	0.0:0.0:1.0:0.0	.	11	Q3SY46	KR133_HUMAN	F	11	ENSP00000375109:S11F	ENSP00000375109:S11F	S	-	2	0	KRTAP13-3	30720070	1.000000	0.71417	0.770000	0.31555	0.002000	0.02628	2.574000	0.46016	2.592000	0.87571	0.650000	0.86243	TCC	KRTAP13-3	-	pfam_PMG		0.542	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	HGNC	protein_coding	OTTHUMT00000128228.2	G			31798199	-1	no_errors	ENST00000390690	ensembl	human	known	70_37	missense	SNP	0.998	A	A	31798199	G	A	31798199	3	1	154	1	0	0	0	0	1	0	0	0	8544	1174	41	1	490	1	KRTAP13-3	21	31798199	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		31798199	16331696	401	27819										
DYRK1A	1859	genome.wustl.edu	37	chr21	38862616	38862616	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acacgaaagtttgcgcaacaGatgtgcactgcactgctttt	9	10	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr21:38862616G>C	ENST00000398960.2	+	6	879	c.804G>C	c.(802-804)caG>caC	p.Q268H	DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q259H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Q268H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Q268H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q40H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Q268H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Q268H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTGCGCAACAGATGTGCACTG	0.423																																					Melanoma(114;464 1602 31203 43785 45765)												0													105	96	99					21																	38862616		2203	4299	6502	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.804G>C	21.37:g.38862616G>C	ENSP00000381932:p.Gln268His		O60769|Q92582|Q92810|Q9UNM5	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.Q268H	ENST00000398960.2	37	c.804	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953911	0.73902	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.91	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.998;0.997	D;D;D;D;D	0.72338	0.971;0.971;0.977;0.961;0.971	T	0.69643	-0.5090	10	0.87932	D	0	.	12.565	0.56304	0.1534:0.0:0.8466:0.0	.	268;268;268;259;268	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	H	268;259;268;268;268;268;40	ENSP00000342690:Q268H;ENSP00000340373:Q259H;ENSP00000319032:Q268H;ENSP00000416089:Q268H;ENSP00000381932:Q268H;ENSP00000381929:Q268H;ENSP00000407854:Q40H	ENSP00000319032:Q268H	Q	+	3	2	DYRK1A	37784486	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.931000	0.48932	0.848000	0.35191	0.573000	0.79308	CAG	DYRK1A	-	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		0.423	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	G	NM_001396		38862616	1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38862616	G	C	38862616	3	2	154	1	0	0	0	0	1	0	0	0	4864	933	33	1	826	1	DYRK1A	21	38862616	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	7064417	38862616	9267279	402	27820										
LCA5L	150082	genome.wustl.edu	37	chr21	40777909	40777909	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	agcatggctggtggaggcctGactgggaggcaggggatgcg	21	7	0	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr21:40777909G>A	ENST00000358268.2	-	10	2440	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Nonsense_Mutation_p.Q638*|LCA5L_ENST00000380671.2_Nonsense_Mutation_p.Q638*			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	638										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GTGGAGGCCTGACTGGGAGGC	0.443																																																	0													73	78	76					21																	40777909		2203	4300	6503	SO:0001587	stop_gained	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1912C>T	21.37:g.40777909G>A	ENSP00000351008:p.Gln638*		D3DSI0|Q3ZCT0	Nonsense_Mutation	SNP	NULL	p.Q638*	ENST00000358268.2	37	c.1912	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.382617	0.95967	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	.	.	.	4.98	4.98	0.66077	.	0.135219	0.33834	N	0.004516	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9111	14.1401	0.65313	0.0:0.0:1.0:0.0	.	.	.	.	X	638	.	ENSP00000288350:Q638X	Q	-	1	0	LCA5L	39699779	0.887000	0.30362	0.348000	0.25681	0.105000	0.19272	2.869000	0.48444	2.465000	0.83290	0.655000	0.94253	CAG	LCA5L	-	NULL		0.443	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	G	NM_152505		40777909	-1	no_errors	ENST00000288350	ensembl	human	known	70_37	nonsense	SNP	0.567	A	A	40777909	G	A	40777909	4	1	154	1	0	0	0	0	0	1	0	0	8677	1299	45	1	104	1	LCA5L	21	40777909	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1915293	40777909	7351986	403	27821			2	118		3	3	236	G		5.074453e-06
LCA5L	150082	genome.wustl.edu	37	chr21	40777980	40777980	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cttttgcaacaccaggacttGattggtcagttttcaagaca	8	9	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr21:40777980G>C	ENST00000358268.2	-	10	2369	c.1841C>G	c.(1840-1842)tCa>tGa	p.S614*	LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Nonsense_Mutation_p.S614*|LCA5L_ENST00000380671.2_Nonsense_Mutation_p.S614*			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	614										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ACCAGGACTTGATTGGTCAGT	0.473																																																	0													95	93	93					21																	40777980		2203	4300	6503	SO:0001587	stop_gained	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1841C>G	21.37:g.40777980G>C	ENSP00000351008:p.Ser614*		D3DSI0|Q3ZCT0	Nonsense_Mutation	SNP	NULL	p.S614*	ENST00000358268.2	37	c.1841	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.230408	0.97394	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	.	.	.	5.05	3.07	0.35406	.	0.922995	0.09143	N	0.842737	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.3051	8.5518	0.33455	0.0823:0.2116:0.706:0.0	.	.	.	.	X	614	.	ENSP00000288350:S614X	S	-	2	0	LCA5L	39699850	0.011000	0.17503	0.000000	0.03702	0.003000	0.03518	1.981000	0.40628	0.475000	0.27415	0.655000	0.94253	TCA	LCA5L	-	NULL		0.473	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	G	NM_152505		40777980	-1	no_errors	ENST00000288350	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	40777980	G	C	40777980	4	2	154	1	0	0	0	0	0	1	0	0	8677	1294	45	1	175	1	LCA5L	21	40777980	Nonsense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	71	40777980	7351915	404	27822			2	118		3	3	236	G		5.074453e-06
LCA5L	150082	genome.wustl.edu	37	chr21	40778144	40778144	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tccatttcctctctgttactGagatgcttgcctgtactatg	7	11	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr21:40778144G>A	ENST00000358268.2	-	10	2205	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Silent_p.L559L|LCA5L_ENST00000380671.2_Silent_p.L559L			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	559										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTCTGTTACTGAGATGCTTGC	0.478																																																	0													129	123	125					21																	40778144		2203	4300	6503	SO:0001819	synonymous_variant	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1677C>T	21.37:g.40778144G>A			D3DSI0|Q3ZCT0	Silent	SNP	NULL	p.L559	ENST00000358268.2	37	c.1677	CCDS13665.1	21																																																																																			LCA5L	-	NULL		0.478	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	G	NM_152505		40778144	-1	no_errors	ENST00000288350	ensembl	human	known	70_37	silent	SNP	0.000	A	A	40778144	G	A	40778144	2	1	154	1	0	0	0	0	0	0	0	1	8677	1277	45	1		1	LCA5L	21	40778144	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	164	40778144	7351751	405	27823			2	118		3	3	236	G		5.074453e-06
MX2	4600	genome.wustl.edu	37	chr21	42771122	42771122	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttgactttatatcattttcaGaaaatcaagatgtttaatca	4	5	4	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr21:42771122G>A	ENST00000330714.3	+	10	1456		c.e10-1		MX2_ENST00000496774.1_Splice_Site	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2						cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATCATTTTCAGAAAATCAAGA	0.408																																																	0													58	62	61					21																	42771122		2202	4300	6502	SO:0001630	splice_region_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1273-1G>A	21.37:g.42771122G>A			B7Z5D3|D3DSI7	Splice_Site	SNP	-	e9-1	ENST00000330714.3	37	c.1273-1	CCDS13672.1	21	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318559	0.60524	.	.	ENSG00000183486	ENST00000330714	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2959	0.66314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MX2	41692992	1.000000	0.71417	0.951000	0.38953	0.935000	0.57460	5.098000	0.64548	2.140000	0.66376	0.491000	0.48974	.	MX2	-	-		0.408	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	G	NM_002463	Intron	42771122	1	no_errors	ENST00000330714	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	42771122	G	A	42771122	5	1	154	1	0	0	0	0	0	0	1	0	10021	956	33	1	1306	1	MX2	21	42771122	Splice_Site	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1992978	42771122	5358773	406	27824										
CECR2	27443	genome.wustl.edu	37	chr22	17983929	17983929	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ggctcctgtgccagacagaaGaggaatggagacaggtcacc	14	10	1	4			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr22:17983929G>C	ENST00000400585.2	+	7	700	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	CECR2_ENST00000262608.8_Missense_Mutation_p.E210Q|CECR2_ENST00000400573.5_Missense_Mutation_p.E229Q|CECR2_ENST00000342247.5_Missense_Mutation_p.E209Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	251					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGACAGAAGAGGAATGGAG	0.542																																																	0													101	106	104					22																	17983929		1931	4119	6050	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.262G>C	22.37:g.17983929G>C	ENSP00000383428:p.Glu88Gln		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E229Q	ENST00000400585.2	37	c.685		22	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891719	0.33442	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.35	3.18	0.36537	.	0.232106	0.29551	N	0.011822	T	0.33789	0.0875	N	0.25647	0.755	0.42862	D	0.994116	B;B;B;B	0.32653	0.087;0.087;0.141;0.379	B;B;B;B	0.26517	0.033;0.018;0.028;0.07	T	0.11155	-1.0599	10	0.39692	T	0.17	-14.0423	15.4509	0.75271	0.0:0.3966:0.6034:0.0	.	251;88;251;229	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	Q	209;88;229;210	ENSP00000341219:E209Q;ENSP00000383428:E88Q;ENSP00000383417:E229Q;ENSP00000262608:E210Q	ENSP00000262608:E210Q	E	+	1	0	CECR2	16363929	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	3.636000	0.54317	0.696000	0.31696	0.655000	0.94253	GAG	CECR2	-	NULL		0.542	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		17983929	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	17983929	G	C	17983929	3	2	154	1	0	0	0	0	1	0	0	0	3211	943	33	1	649	1	CECR2	22	17983929	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		17983929	33320637	407	27825										
C22orf25	128989	genome.wustl.edu	37	chr22	20052087	20052087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ccaacactatcatcctggtaGatgcggacggccacgtgacc	10	14	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr22:20052087G>A	ENST00000327374.4	+	9	911	c.733G>A	c.(733-735)Gat>Aat	p.D245N	AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000596334.1_RNA|TANGO2_ENST00000401886.1_Missense_Mutation_p.D183N|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000600617.1_RNA|AC006547.13_ENST00000609644.1_RNA|AC006547.13_ENST00000601746.1_RNA|TANGO2_ENST00000447208.2_Missense_Mutation_p.D245N|TANGO2_ENST00000401833.1_Missense_Mutation_p.D286N|AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000415503.1_RNA|AC006547.15_ENST00000600090.1_RNA|TANGO2_ENST00000398042.2_Missense_Mutation_p.D183N|TANGO2_ENST00000434570.2_Silent_p.*199*|TANGO2_ENST00000456048.1_Missense_Mutation_p.D250N|TANGO2_ENST00000420290.2_Missense_Mutation_p.D147N|TANGO2_ENST00000432883.1_Missense_Mutation_p.D183N	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	245			D -> E (in dbSNP:rs16982614).														CATCCTGGTAGATGCGGACGG	0.567																																																	0													141	108	119					22																	20052087		2203	4300	6503	SO:0001583	missense	128989				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.733G>A	22.37:g.20052087G>A	ENSP00000332721:p.Asp245Asn		A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Missense_Mutation	SNP	pfam_DUF833	p.D250N	ENST00000327374.4	37	c.748	CCDS13772.1	22	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742539	0.69418	.	.	ENSG00000183597	ENST00000401886;ENST00000447208;ENST00000398042;ENST00000327374;ENST00000432883;ENST00000401833;ENST00000420290;ENST00000456048	T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	4.64	4.64	0.57946	.	0.097074	0.64402	D	0.000002	T	0.50222	0.1603	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.936;0.973;0.951;1.0	T	0.49799	-0.8901	10	0.45353	T	0.12	-33.6807	12.9661	0.58485	0.0:0.0:1.0:0.0	.	147;286;250;245;183	B7Z583;B7WNV6;C9JC99;Q6ICL3;Q6ICL3-2	.;.;.;CV025_HUMAN;.	N	183;245;183;245;183;286;147;250	ENSP00000385662:D183N;ENSP00000389797:D245N;ENSP00000381122:D183N;ENSP00000332721:D245N;ENSP00000402926:D183N;ENSP00000384827:D286N;ENSP00000396182:D147N;ENSP00000403645:D250N	ENSP00000332721:D245N	D	+	1	0	C22orf25	18432087	1.000000	0.71417	0.910000	0.35882	0.036000	0.12997	6.696000	0.74598	2.424000	0.82194	0.549000	0.68633	GAT	C22orf25	-	pfam_DUF833		0.567	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf25	HGNC	protein_coding	OTTHUMT00000318689.2	G	NM_152906		20052087	1	no_errors	ENST00000456048	ensembl	human	known	70_37	missense	SNP	0.996	A	A	20052087	G	A	20052087	3	1	154	1	0	0	0	0	1	0	0	0	2144	942	33	1	763	1	C22orf25	22	20052087	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2068158	20052087	31252479	408	27826										
SMARCB1	6598	genome.wustl.edu	37	chr22	24143243	24143243	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	acaggaaccgcatgggccgaGacaagaagagaaccttcccc	11	13	0	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr22:24143243G>A	ENST00000263121.7	+	4	671	c.475G>A	c.(475-477)Gac>Aac	p.D159N	SMARCB1_ENST00000407422.3_Missense_Mutation_p.D150N|SMARCB1_ENST00000344921.6_Missense_Mutation_p.D150N|SMARCB1_ENST00000407082.3_Intron	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	159	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(5)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CATGGGCCGAGACAAGAAGAG	0.572			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	5	Deletion - Frameshift(3)|Unknown(2)	soft_tissue(5)											214	134	161					22																	24143243		2203	4300	6503	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.475G>A	22.37:g.24143243G>A	ENSP00000263121:p.Asp159Asn		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.D159N	ENST00000263121.7	37	c.475	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939542	0.73557	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422	D;D;D;D	0.93488	-2.86;-3.23;-3.22;-3.23	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	N	0.08118	0	0.80722	D	1	D;D;B;P;B;D	0.69078	0.974;0.991;0.046;0.565;0.415;0.997	P;P;B;B;B;D	0.73380	0.736;0.857;0.037;0.108;0.108;0.98	D	0.92385	0.5916	10	0.33141	T	0.24	-39.629	17.5554	0.87888	0.0:0.0:1.0:0.0	.	150;159;150;150;159;159	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	N	159;150;159;150	ENSP00000388489:D159N;ENSP00000340883:D150N;ENSP00000263121:D159N;ENSP00000383984:D150N	ENSP00000263121:D159N	D	+	1	0	SMARCB1	22473243	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.477000	0.83638	0.644000	0.83932	GAC	SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx		0.572	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	G	NM_003073		24143243	1	no_errors	ENST00000263121	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24143243	G	A	24143243	3	1	154	1	0	0	0	0	1	0	0	0	14804	942	33	1	489	1	SMARCB1	22	24143243	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	4091156	24143243	27161323	409	27827										
LRP5L	91355	genome.wustl.edu	37	chr22	25756029	25756029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cctgcggatggcccacacctCgtcatccgtccagtagacgt	10	16	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr22:25756029C>T	ENST00000402785.2	-	1	127	c.31G>A	c.(31-33)Gag>Aag	p.E11K	LRP5L_ENST00000444995.3_Missense_Mutation_p.E11K|LRP5L_ENST00000402859.2_Missense_Mutation_p.E11K			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	11					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCCACACCTCGTCATCCGTC	0.592																																																	0													114	88	97					22																	25756029		2200	4300	6500	SO:0001583	missense	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.31G>A	22.37:g.25756029C>T	ENSP00000384562:p.Glu11Lys		B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.E11K	ENST00000402785.2	37	c.31	CCDS33626.1	22	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582868	0.28268	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.91068	-2.78;-2.78;-2.78	2.12	2.12	0.27331	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.86793	0.6018	M	0.61703	1.905	0.46185	D	0.998916	D;P	0.55605	0.972;0.62	B;B	0.40741	0.339;0.051	D	0.84894	0.0838	9	0.35671	T	0.21	.	10.3412	0.43879	0.0:1.0:0.0:0.0	.	11;11	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	K	11	ENSP00000384291:E11K;ENSP00000407283:E11K;ENSP00000384562:E11K	ENSP00000384562:E11K	E	-	1	0	LRP5L	24086029	1.000000	0.71417	0.989000	0.46669	0.103000	0.19146	6.746000	0.74866	1.488000	0.48433	0.194000	0.17425	GAG	LRP5L	-	pfscan_LDLR_classB_rpt		0.592	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	C	NM_182492		25756029	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25756029	C	T	25756029	3	4	154	1	0	0	0	0	1	0	0	0	8984	893	31	1	743	1	LRP5L	22	25756029	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	1612786	25756029	25548537	410	27828										
CACNA1I	8911	genome.wustl.edu	37	chr22	40068993	40068993	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gccattgtgctactgtcagtCatgggcatcaccctggagga	12	11	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr22:40068993C>G	ENST00000402142.3	+	28	4689	c.4689C>G	c.(4687-4689)gtC>gtG	p.V1563V	CACNA1I_ENST00000400164.3_Silent_p.V1528V|CACNA1I_ENST00000336649.4_Silent_p.V1569V|CACNA1I_ENST00000404898.1_Silent_p.V1528V|CACNA1I_ENST00000401624.1_Silent_p.V1563V|CACNA1I_ENST00000407673.1_Silent_p.V1528V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1563					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TACTGTCAGTCATGGGCATCA	0.592																																																	0													83	86	85					22																	40068993		2143	4245	6388	SO:0001819	synonymous_variant	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4689C>G	22.37:g.40068993C>G			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V1569	ENST00000402142.3	37	c.4707	CCDS46710.1	22																																																																																			CACNA1I	-	pfam_Ion_trans_dom		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40068993	1	no_errors	ENST00000336649	ensembl	human	known	70_37	silent	SNP	1.000	G	G	40068993	C	G	40068993	2	3	154	1	0	0	0	0	0	0	0	1	2551	813	29	1		1	CACNA1I	22	40068993	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	14312964	40068993	11235573	411	27829										
MEI1	150365	genome.wustl.edu	37	chr22	42128517	42128517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	cacaagctcagccatgtgcaGagatgctggccgtgccctcc	11	15	1	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chr22:42128517G>C	ENST00000401548.3	+	11	1281	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.R154T|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCATGTGCAGAGATGCTGGC	0.552																																																	0													71	73	72					22																	42128517		2107	4236	6343	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1241G>C	22.37:g.42128517G>C	ENSP00000384115:p.Arg414Thr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R414T	ENST00000401548.3	37	c.1241	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390853	0.42410	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.44881	1.91;0.91	5.74	3.44	0.39384	Armadillo-like helical (1);Armadillo-type fold (1);	0.714131	0.13920	N	0.353609	T	0.33000	0.0848	L	0.56769	1.78	0.45035	D	0.998057	P;P	0.38504	0.61;0.634	B;B	0.32864	0.154;0.124	T	0.16012	-1.0417	10	0.39692	T	0.17	-3.7566	5.5857	0.17274	0.0983:0.1415:0.6158:0.1445	.	414;414	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	T	414;154	ENSP00000384115:R414T;ENSP00000444225:R154T	ENSP00000384115:R414T	R	+	2	0	MEI1	40458463	0.479000	0.25925	0.779000	0.31741	0.976000	0.68499	0.619000	0.24388	1.373000	0.46208	0.563000	0.77884	AGA	MEI1	-	superfamily_ARM-type_fold		0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	G	NM_152513		42128517	1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	0.662	C	C	42128517	G	C	42128517	3	2	154	1	0	0	0	0	1	0	0	0	9488	942	33	1	1283	1	MEI1	22	42128517	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	2059524	42128517	9176049	412	27830										
ASMTL	8623	genome.wustl.edu	37	chrX	1531692	1531692	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tcgtctggccagtcatgcagGatccggcacaggacgtacag	13	12	2	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:1531692G>T	ENST00000381317.3	-	12	1610	c.1578C>A	c.(1576-1578)atC>atA	p.I526I	ASMTL_ENST00000416733.2_Silent_p.I450I|ASMTL_ENST00000534940.1_Silent_p.I468I|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Silent_p.I510I	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	526	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGTCATGCAGGATCCGGCACA	0.542																																																	0													171	183	179					X																	1531692		2029	4184	6213	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1578C>A	X.37:g.1531692G>T			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.I526	ENST00000381317.3	37	c.1578	CCDS43917.1	X																																																																																			ASMTL	-	pfam_O_MeTrfase_2		0.542	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1531692	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	silent	SNP	0.992	T	T	1531692	G	T	1531692	2	4	154	1	0	0	0	0	0	0	0	1	1047	1164	41	3		3	ASMTL	23	1531692	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09		1531692	153738868	413	27831										
MXRA5	25878	genome.wustl.edu	37	chrX	3229384	3229384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	tgtcatccgactgcatgaagGagttcaccagactcccgtct	9	13	3	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:3229384G>A	ENST00000217939.6	-	7	7014	c.6860C>T	c.(6859-6861)tCc>tTc	p.S2287F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2287	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCATGAAGGAGTTCACCAG	0.562																																																	0													96	78	84					X																	3229384		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6860C>T	X.37:g.3229384G>A	ENSP00000217939:p.Ser2287Phe		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2287F	ENST00000217939.6	37	c.6860	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456211	0.26161	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70282	-0.47	4.28	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.435124	0.16816	U	0.198380	T	0.82162	0.4977	M	0.78344	2.41	0.19775	N	0.999959	D	0.69078	0.997	D	0.67103	0.949	T	0.73170	-0.4067	10	0.66056	D	0.02	.	11.576	0.50862	0.0:0.0:0.8217:0.1783	.	2287	Q9NR99	MXRA5_HUMAN	F	2287	ENSP00000217939:S2287F	ENSP00000217939:S2287F	S	-	2	0	MXRA5	3239384	1.000000	0.71417	0.066000	0.19879	0.175000	0.22909	2.872000	0.48467	1.760000	0.52011	0.509000	0.49947	TCC	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.562	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3229384	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.334	A	A	3229384	G	A	3229384	3	1	154	1	0	0	0	0	1	0	0	0	10026	1174	41	1	1630	1	MXRA5	23	3229384	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	1697692	3229384	152041176	414	27832										
TLR7	51284	genome.wustl.edu	37	chrX	12903915	12903915	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	catctggtagagatcgatttCagatgcaactgtgtacctat	9	8	2	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:12903915C>G	ENST00000380659.3	+	3	427	c.288C>G	c.(286-288)ttC>ttG	p.F96L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	96					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGATCGATTTCAGATGCAACT	0.463																																																	0													131	122	125					X																	12903915		2203	4300	6503	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.288C>G	X.37:g.12903915C>G	ENSP00000370034:p.Phe96Leu		D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.F96L	ENST00000380659.3	37	c.288	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	C	3.001	-0.206089	0.06180	.	.	ENSG00000196664	ENST00000380659	T	0.00745	5.75	5.79	3.98	0.46160	.	0.199686	0.45126	N	0.000394	T	0.00300	0.0009	N	0.00405	-1.535	0.40685	D	0.982346	B	0.02656	0.0	B	0.04013	0.001	T	0.42749	-0.9433	10	0.02654	T	1	.	9.8076	0.40803	0.1433:0.7825:0.0:0.0743	.	96	Q9NYK1	TLR7_HUMAN	L	96	ENSP00000370034:F96L	ENSP00000370034:F96L	F	+	3	2	TLR7	12813836	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.844000	0.39269	0.561000	0.29186	0.500000	0.49745	TTC	TLR7	-	NULL		0.463	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	C	NM_016562		12903915	1	no_errors	ENST00000380659	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12903915	C	G	12903915	3	3	154	1	0	0	0	0	1	0	0	0	15986	825	29	1	294	1	TLR7	23	12903915	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	9674531	12903915	142366645	415	27833										
BEND2	139105	genome.wustl.edu	37	chrX	18183237	18183237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctggcttcagcccttctgacGtcatgtctaaggctacggat	10	12	4	1	rs367620811		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:18183237G>A	ENST00000380033.4	-	14	2424	c.2292C>T	c.(2290-2292)gaC>gaT	p.D764D		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	764	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCCTTCTGACGTCATGTCTAA	0.537																																																	0								G		1,3834		0,1,1631,571	188	165	173		2292	0.5	0	X		173	0,6728		0,0,2428,1872	no	coding-synonymous	BEND2	NM_153346.4		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		764/800	18183237	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2292C>T	X.37:g.18183237G>A			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.D764	ENST00000380033.4	37	c.2292	CCDS14184.1	X																																																																																			BEND2	-	NULL		0.537	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	G	NM_153346		18183237	-1	no_errors	ENST00000380033	ensembl	human	known	70_37	silent	SNP	0.000	A	A	18183237	G	A	18183237	2	1	154	1	0	0	0	0	0	0	0	1	1399	1136	40	2		2	BEND2	23	18183237	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5279322	18183237	137087323	416	27834										
DMD	1756	genome.wustl.edu	37	chrX	31645828	31645828	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ctcttttactcccttggagtCttctaggagcctttccttac	6	13	3	0			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:31645828C>T	ENST00000357033.4	-	55	8385	c.8179G>A	c.(8179-8181)Gac>Aac	p.D2727N	DMD_ENST00000359836.1_Missense_Mutation_p.D267N|DMD_ENST00000378677.2_Missense_Mutation_p.D2723N|DMD_ENST00000378707.3_Missense_Mutation_p.D267N|DMD_ENST00000474231.1_Missense_Mutation_p.D267N|DMD_ENST00000541735.1_Missense_Mutation_p.D267N|DMD_ENST00000343523.2_Missense_Mutation_p.D267N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2727					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCCTTGGAGTCTTCTAGGAGC	0.463																																																	0													95	82	86					X																	31645828		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8179G>A	X.37:g.31645828C>T	ENSP00000354923:p.Asp2727Asn		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.D2727N	ENST00000357033.4	37	c.8179	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.909098|2.909098	0.52439|0.52439	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.58060|.	0.85;0.36;0.36;0.36;0.36;0.36;0.36;0.36|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.183530|.	0.24557|.	N|.	0.037514|.	T|T	0.62539|0.62539	0.2436|0.2436	L|L	0.41236|0.41236	1.265|1.265	0.34246|0.34246	D|D	0.678247|0.678247	P;P;P;B;B;B;B;B;B;B|.	0.42203|.	0.773;0.476;0.476;0.122;0.122;0.001;0.002;0.004;0.0;0.0|.	P;B;B;B;B;B;B;B;B;B|.	0.45377|.	0.478;0.145;0.145;0.039;0.039;0.006;0.026;0.061;0.001;0.0|.	T|T	0.67213|0.67213	-0.5727|-0.5727	10|5	0.51188|.	T|.	0.08|.	.|.	19.1018|19.1018	0.93276|0.93276	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2719;2727;2723;1386;1383;267;267;267;267;267|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.|.	N|K	2719;1386;1383;423;2723;2727;267;267;2727;2604;267;267;267|455	ENSP00000350765:D423N;ENSP00000367948:D2723N;ENSP00000354923:D2727N;ENSP00000352894:D267N;ENSP00000340057:D267N;ENSP00000367979:D267N;ENSP00000444119:D267N;ENSP00000417123:D267N|.	ENSP00000340057:D267N|.	D|R	-|-	1|2	0|0	DMD|DMD	31555749|31555749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	4.829000|4.829000	0.62737|0.62737	2.461000|2.461000	0.83175|0.83175	0.508000|0.508000	0.49915|0.49915	GAC|AGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31645828	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31645828	C	T	31645828	3	4	154	1	0	0	0	0	1	0	0	0	4590	913	32	1	3126	1	DMD	23	31645828	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	13462591	31645828	123624732	417	27835										
FAM47C	442444	genome.wustl.edu	37	chrX	37027059	37027059	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	ttctcccctcggcctcccgaGactcgggtgtcctgtctccc	9	19	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:37027059G>A	ENST00000358047.3	+	1	628	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	192										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGCCTCCCGAGACTCGGGTGT	0.647																																																	0													29	31	30					X																	37027059		2202	4299	6501	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.576G>A	X.37:g.37027059G>A			Q6ZU46	Silent	SNP	NULL	p.E192	ENST00000358047.3	37	c.576	CCDS35227.1	X																																																																																			FAM47C	-	NULL		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	G	NM_001013736		37027059	1	no_errors	ENST00000358047	ensembl	human	known	70_37	silent	SNP	0.706	A	A	37027059	G	A	37027059	2	1	154	1	0	0	0	0	0	0	0	1	5589	933	33	1		1	FAM47C	23	37027059	Silent	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	5381231	37027059	118243501	418	27836										
WDR45	11152	genome.wustl.edu	37	chrX	48932841	48932841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtattgcgaccgaaggcgcaGatgcaagctgactcagcagg	14	10	1	2			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:48932841G>C	ENST00000376372.3	-	10	1108	c.927C>G	c.(925-927)atC>atG	p.I309M	WDR45_ENST00000376368.2_Missense_Mutation_p.I310M|WDR45_ENST00000485908.1_Missense_Mutation_p.I274M|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.I320M|PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000491199.1_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000356463.3_Missense_Mutation_p.I310M|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.I295M	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	309					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CGAAGGCGCAGATGCAAGCTG	0.597																																																	0													64	53	57					X																	48932841		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.927C>G	X.37:g.48932841G>C	ENSP00000365551:p.Ile309Met		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.I320M	ENST00000376372.3	37	c.960	CCDS35250.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.61|13.61	2.287261|2.287261	0.40494|0.40494	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000486337;ENST00000367375	T;T;T;T;T;T|.	0.76968|.	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.136529|.	0.51477|.	D|.	0.000088|.	T|T	0.67951|0.67951	0.2948|0.2948	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.41546|.	0.749;0.754;0.57;0.458|.	B;B;B;B|.	0.40825|.	0.341;0.169;0.169;0.15|.	T|T	0.67142|0.67142	-0.5745|-0.5745	10|5	0.52906|.	T|.	0.07|.	-16.6594|-16.6594	14.9736|14.9736	0.71251|0.71251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	320;274;310;309|.	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;WIPI4_HUMAN|.	M|V	309;320;310;274;310;295|34;236	ENSP00000365551:I309M;ENSP00000365543:I320M;ENSP00000348848:I310M;ENSP00000419897:I274M;ENSP00000365546:I310M;ENSP00000379913:I295M|.	ENSP00000365543:I320M|.	I|L	-|-	3|1	3|2	WDR45|WDR45	48819785|48819785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.907000|3.907000	0.56348|0.56348	1.968000|1.968000	0.57251|0.57251	0.409000|0.409000	0.27619|0.27619	ATC|CTG	WDR45	-	NULL		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	G	NM_007075		48932841	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48932841	G	C	48932841	3	2	154	1	0	0	0	0	1	0	0	0	17328	932	33	1	163	1	WDR45	23	48932841	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	11905782	48932841	106337719	419	27837										
ERCC6L	54821	genome.wustl.edu	37	chrX	71427447	71427447	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	gtctccattagcaactccttGatatgatctaaagacacaaa	5	10	2	3			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:71427447G>C	ENST00000334463.3	-	2	1305	c.1170C>G	c.(1168-1170)atC>atG	p.I390M	ERCC6L_ENST00000373657.1_Missense_Mutation_p.I267M|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	390					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GCAACTCCTTGATATGATCTA	0.413																																																	0													92	86	88					X																	71427447		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1170C>G	X.37:g.71427447G>C	ENSP00000334675:p.Ile390Met		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I390M	ENST00000334463.3	37	c.1170	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459934	0.43736	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.92911	-3.13;-3.13	5.82	5.82	0.92795	.	.	.	.	.	D	0.91277	0.7250	N	0.17312	0.475	0.47584	D	0.999461	D	0.89917	1.0	D	0.77004	0.989	D	0.91017	0.4854	9	0.51188	T	0.08	-10.099	9.8807	0.41231	0.0936:0.0:0.9064:0.0	.	390	Q2NKX8	ERC6L_HUMAN	M	267;390	ENSP00000362761:I267M;ENSP00000334675:I390M	ENSP00000334675:I390M	I	-	3	3	ERCC6L	71344172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.143000	0.42187	2.458000	0.83093	0.600000	0.82982	ATC	ERCC6L	-	NULL		0.413	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	G	NM_017669		71427447	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71427447	G	C	71427447	3	2	154	1	0	0	0	0	1	0	0	0	5230	1280	45	1	2586	1	ERCC6L	23	71427447	Missense_Mutation	SNP	G	TCGA-IR-A3LL-01A-11D-A20U-09	22494606	71427447	83843113	420	27838										
SERPINA7	6906	genome.wustl.edu	37	chrX	105279279	105279279	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	aggtgatagtattgttccatCtggtgcatcatgggcacttg	12	7	2	1			TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:105279279C>T	ENST00000327674.4	-	2	1055	c.720G>A	c.(718-720)caG>caA	p.Q240Q	SERPINA7_ENST00000372563.1_Silent_p.Q240Q|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	240					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ATTGTTCCATCTGGTGCATCA	0.453																																																	0													225	185	199					X																	105279279		2203	4300	6503	SO:0001819	synonymous_variant	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.720G>A	X.37:g.105279279C>T			D3DUX1	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.Q240	ENST00000327674.4	37	c.720	CCDS14518.1	X																																																																																			SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.453	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	C	NM_000354		105279279	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	silent	SNP	0.470	T	T	105279279	C	T	105279279	2	4	154	1	0	0	0	0	0	0	0	1	14124	912	32	1		1	SERPINA7	23	105279279	Silent	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	33851832	105279279	49991281	421	27839										
OCRL	4952	genome.wustl.edu	37	chrX	128696373	128696373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.612826603325416	258	6.85405775894152e-105	4.27548249881214	5.29871928566773	3.73138039786511	0.0022375383191922	0.0127671304095084	198	actcataggttcaactggtgCgccttgttgggatgatgctt	12	8	2	1	rs137853263		TCGA-IR-A3LL-01A-11D-A20U-09	TCGA-IR-A3LL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8788027e-3464-4a19-896b-4f5c3dccdee5	fe76b2c2-feab-4c67-863e-28f103b47dd8	g.chrX:128696373C>T	ENST00000371113.4	+	11	1117	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	OCRL_ENST00000357121.5_Missense_Mutation_p.R318C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	318	5-phosphatase.		R -> C (in DD2 and OCRL; dbSNP:rs137853263). {ECO:0000269|PubMed:15627218, ECO:0000269|PubMed:17384968, ECO:0000269|PubMed:21031565}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R318C(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCAACTGGTGCGCCTTGTTGG	0.408																																																	1	Substitution - Missense(1)	endometrium(1)	GRCh37	CM050304	OCRL	M	rs137853263						182	162	168					X																	128696373		2203	4300	6503	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.952C>T	X.37:g.128696373C>T	ENSP00000360154:p.Arg318Cys		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R318C	ENST00000371113.4	37	c.952	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174191	0.78452	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95690	-3.78;-3.78	5.54	5.54	0.83059	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99376	1.0921	10	0.87932	D	0	.	17.3733	0.87384	0.0:1.0:0.0:0.0	.	318;318	Q01968-2;Q01968	.;OCRL_HUMAN	C	318	ENSP00000360154:R318C;ENSP00000349635:R318C	ENSP00000349635:R318C	R	+	1	0	OCRL	128524054	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.484000	0.81180	2.316000	0.78162	0.513000	0.50165	CGC	OCRL	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	C	NM_000276		128696373	1	no_errors	ENST00000371113	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128696373	C	T	128696373	3	4	154	1	0	0	0	0	1	0	0	0	10847	768	27	2	994	2	OCRL	23	128696373	Missense_Mutation	SNP	C	TCGA-IR-A3LL-01A-11D-A20U-09	23417094	128696373	26574187	422	27840										
ELOVL1	64834	genome.wustl.edu	37	chr1	43829755	43829755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	actgggtactggtagttacaGctggacataaagtagtactg	12	6	0	0			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:43829755G>T	ENST00000372458.3	-	8	789	c.672C>A	c.(670-672)agC>agA	p.S224R	ELOVL1_ENST00000413844.2_Missense_Mutation_p.S197R|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	224					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTAGTTACAGCTGGACATAA	0.458																																																	0													113	98	103					1																	43829755		2203	4300	6503	SO:0001583	missense	64834			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.672C>A	1.37:g.43829755G>T	ENSP00000361536:p.Ser224Arg		B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.S224R	ENST00000372458.3	37	c.672	CCDS485.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664904	0.29604	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.22945	1.93;1.93	5.7	3.84	0.44239	.	0.310058	0.47852	D	0.000208	T	0.21022	0.0506	L	0.35288	1.05	0.54753	D	0.999981	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.03296	-1.1051	10	0.72032	D	0.01	-17.8636	12.2627	0.54660	0.1375:0.0:0.8625:0.0	.	197;224	B4DP24;Q9BW60	.;ELOV1_HUMAN	R	224;197	ENSP00000361536:S224R;ENSP00000416024:S197R	ENSP00000361536:S224R	S	-	3	2	ELOVL1	43602342	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.051000	0.49885	0.773000	0.33404	-0.218000	0.12543	AGC	ELOVL1	-	pfam_GNS1_SUR4		0.458	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	G	NM_022821		43829755	-1	no_errors	ENST00000372458	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43829755	G	T	43829755	3	4	155	1	0	0	0	0	1	0	0	0	5085	962	34	4	171	4	ELOVL1	1	43829755	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		43829755	205420866	1	27841										
HRNR	388697	genome.wustl.edu	37	chr1	152192700	152192700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	ggaatgctctgagctagactCgtggtgaccaaagccagaag	13	9	1	4	rs147754674		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:152192700C>T	ENST00000368801.2	-	3	1480	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	469					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGACTCGTGGTGACCA	0.567																																																	0								C	LYS/GLU	0,4406		0,0,2203	223	219	220		1405	0.7	0	1	dbSNP_134	220	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	469/2851	152192700	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1405G>A	1.37:g.152192700C>T	ENSP00000357791:p.Glu469Lys		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E469K	ENST00000368801.2	37	c.1405	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.701	0.693006	0.15039	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01838	4.61	2.69	0.67	0.17923	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.34372	0.451	B	0.23716	0.048	T	0.37079	-0.9721	9	0.06099	T	0.92	.	4.9755	0.14138	0.0:0.6834:0.0:0.3166	.	469	Q86YZ3	HORN_HUMAN	K	469	ENSP00000357791:E469K	ENSP00000357791:E469K	E	-	1	0	HRNR	150459324	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.437000	0.02419	0.043000	0.15746	0.499000	0.49734	GAG	HRNR	-	NULL		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152192700	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152192700	C	T	152192700	3	4	155	1	0	0	0	0	1	0	0	0	7379	893	31	1	7151	1	HRNR	1	152192700	Missense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09	108362945	152192700	97057921	2	27842										
NCF2	4688	genome.wustl.edu	37	chr1	183542373	183542373	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	ctgagccacttgtctctcatTtggtcgaaacagcttgccca	8	13	2	1			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:183542373T>A	ENST00000367535.3	-	5	807	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000413720.1_Missense_Mutation_p.N141Y|NCF2_ENST00000367536.1_Missense_Mutation_p.N186Y	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	186					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TGTCTCTCATTTGGTCGAAAC	0.537																																																	0													213	196	202					1																	183542373		2203	4300	6503	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.556A>T	1.37:g.183542373T>A	ENSP00000356505:p.Asn186Tyr		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.N186Y	ENST00000367535.3	37	c.556	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378799	0.82682	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000367535	T;T;T	0.67171	-0.2;-0.25;-0.2	5.08	5.08	0.68730	.	0.228970	0.50627	D	0.000106	T	0.80465	0.4628	M	0.80616	2.505	0.80722	D	1	P;D	0.76494	0.947;0.999	P;P	0.61201	0.538;0.885	D	0.83779	0.0224	10	0.72032	D	0.01	-11.4661	14.8259	0.70113	0.0:0.0:0.0:1.0	.	141;186	E9PHX3;P19878	.;NCF2_HUMAN	Y	186;214;141;186	ENSP00000356506:N186Y;ENSP00000399294:N141Y;ENSP00000356505:N186Y	ENSP00000356505:N186Y	N	-	1	0	NCF2	181808996	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	7.156000	0.77453	1.902000	0.55061	0.477000	0.44152	AAT	NCF2	-	NULL		0.537	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	T	NM_000433		183542373	-1	no_errors	ENST00000367535	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183542373	T	A	183542373	3	1	155	1	0	0	0	0	1	0	0	0	10241	1841	64	5	1068	5	NCF2	1	183542373	Missense_Mutation	SNP	T	TCGA-JW-A5VG-01A-11D-A28B-09	31349673	183542373	65708248	3	27843										
KIF14	9928	genome.wustl.edu	37	chr1	200528488	200528488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gtacactgcctaaagagttcAtgctgaagttcttttgcttt	8	8	2	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:200528488A>G	ENST00000367350.4	-	27	4761	c.4323T>C	c.(4321-4323)caT>caC	p.H1441H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1441	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAAAGAGTTCATGCTGAAGTT	0.313																																																	0													74	75	75					1																	200528488		2203	4299	6502	SO:0001819	synonymous_variant	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4323T>C	1.37:g.200528488A>G			Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H1441	ENST00000367350.4	37	c.4323	CCDS30963.1	1																																																																																			KIF14	-	NULL		0.313	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	A	NM_014875		200528488	-1	no_errors	ENST00000367350	ensembl	human	known	70_37	silent	SNP	0.001	G	G	200528488	A	G	200528488	2	3	155	1	0	0	0	0	0	0	0	1	8296	214	8	5		5	KIF14	1	200528488	Silent	SNP	A	TCGA-JW-A5VG-01A-11D-A28B-09	16986115	200528488	48722133	4	27844										
AVPR1B	553	genome.wustl.edu	37	chr1	206225182	206225182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gagggggctggaggacttggGacaggccctcaccttccacc	15	13	1	0			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:206225182G>A	ENST00000367126.4	+	1	1207	c.742G>A	c.(742-744)Gac>Aac	p.D248N	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	248					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAGGACTTGGGACAGGCCCTC	0.592																																																	0													42	48	46					1																	206225182		2203	4300	6503	SO:0001583	missense	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.742G>A	1.37:g.206225182G>A	ENSP00000356094:p.Asp248Asn		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.D248N	ENST00000367126.4	37	c.742	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138250	0.01742	.	.	ENSG00000198049	ENST00000367126	T	0.62364	0.03	5.19	-0.0531	0.13819	GPCR, rhodopsin-like superfamily (1);	1.541430	0.03856	N	0.273216	T	0.43322	0.1242	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.08554	-1.0716	10	0.20046	T	0.44	-2.3396	1.9524	0.03369	0.3093:0.1234:0.4411:0.1262	.	248	P47901	V1BR_HUMAN	N	248	ENSP00000356094:D248N	ENSP00000356094:D248N	D	+	1	0	AVPR1B	204391805	0.059000	0.20769	0.000000	0.03702	0.059000	0.15707	0.272000	0.18644	-0.291000	0.09012	-0.505000	0.04504	GAC	AVPR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B		0.592	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	G	NM_000707		206225182	1	no_errors	ENST00000367126	ensembl	human	known	70_37	missense	SNP	0.000	A	A	206225182	G	A	206225182	3	1	155	1	0	0	0	0	1	0	0	0	1233	1174	41	1	744	1	AVPR1B	1	206225182	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	5696694	206225182	43025439	5	27845										
SPAST	6683	genome.wustl.edu	37	chr2	32340826	32340826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tacccctacaactgctactcGtaagaaaaaagacttgaaga	6	10	0	4	rs202152835		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:32340826G>A	ENST00000315285.3	+	6	1051	c.926G>A	c.(925-927)cGt>cAt	p.R309H	SPAST_ENST00000345662.1_Missense_Mutation_p.R277H	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTGCTACTCGTAAGAAAAAA	0.323																																																	0													87	96	93					2																	32340826		2203	4298	6501	SO:0001583	missense	6683			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.926G>A	2.37:g.32340826G>A	ENSP00000320885:p.Arg309His			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.R309H	ENST00000315285.3	37	c.926	CCDS1778.1	2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150602	0.57151	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	T;T	0.63913	-0.07;-0.07	5.76	3.88	0.44766	.	0.574590	0.18817	N	0.130348	T	0.56001	0.1956	L	0.32530	0.975	0.58432	D	0.999995	D;P	0.64830	0.994;0.942	P;B	0.48571	0.582;0.28	T	0.55805	-0.8083	10	0.45353	T	0.12	-14.5509	10.9547	0.47351	0.1606:0.0:0.8394:0.0	.	277;309	E5KRP6;Q9UBP0	.;SPAST_HUMAN	H	277;309	ENSP00000340817:R277H;ENSP00000320885:R309H	ENSP00000320885:R309H	R	+	2	0	SPAST	32194330	1.000000	0.71417	0.920000	0.36463	0.982000	0.71751	4.133000	0.57983	1.353000	0.45828	0.460000	0.39030	CGT	SPAST	-	pirsf_Spastin		0.323	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1	G	NM_199436		32340826	1	no_errors	ENST00000315285	ensembl	human	known	70_37	missense	SNP	0.924	A	A	32340826	G	A	32340826	3	1	155	1	0	0	0	0	1	0	0	0	15027	1145	40	2	948	2	SPAST	2	32340826	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		32340826	210858547	6	27846										
ALMS1	7840	genome.wustl.edu	37	chr2	73677738	73677738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	aagaggctctgaaaatttcaGttgcctctgaaccagttgac	9	9	3	4	rs534858351		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:73677738G>A	ENST00000264448.6	+	8	4192	c.4081G>A	c.(4081-4083)Gtt>Att	p.V1361I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V1361I|ALMS1_ENST00000409009.1_Missense_Mutation_p.V1319I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1361	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAAATTTCAGTTGCCTCTGA	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		20425	0		0	False		,,,				2504	0																0													84	87	86					2																	73677738		1853	4095	5948	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4081G>A	2.37:g.73677738G>A	ENSP00000264448:p.Val1361Ile		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.V1361I	ENST00000264448.6	37	c.4081	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246527	0.10130	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15372	3.33;3.32;2.43	3.88	2.0	0.26442	.	.	.	.	.	T	0.12689	0.0308	L	0.39898	1.24	0.09310	N	1	P;B;B	0.42248	0.774;0.187;0.187	B;B;B	0.40066	0.318;0.069;0.069	T	0.15896	-1.0421	9	0.33141	T	0.24	.	4.5306	0.12002	0.1145:0.0:0.6669:0.2187	.	1361;1319;1361	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1319;1361;1361	ENSP00000386627:V1319I;ENSP00000264448:V1361I;ENSP00000366944:V1361I	ENSP00000264448:V1361I	V	+	1	0	ALMS1	73531246	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.048000	0.00306	0.553000	0.29044	0.561000	0.74099	GTT	ALMS1	-	NULL		0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73677738	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.000	A	A	73677738	G	A	73677738	3	1	155	1	0	0	0	0	1	0	0	0	535	1029	36	4	4111	4	ALMS1	2	73677738	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	41336912	73677738	169521635	7	27847										
ITGB6	3694	genome.wustl.edu	37	chr2	160964291	160964291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gatgcacagtaggacaacccCgatgagaagaatagccaggg	13	9	0	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:160964291C>T	ENST00000283249.2	-	14	2404	c.2167G>A	c.(2167-2169)Ggg>Agg	p.G723R	ITGB6_ENST00000428609.2_Missense_Mutation_p.G681R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G723R|ITGB6_ENST00000409967.2_Missense_Mutation_p.G616R	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	723					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGGACAACCCCGATGAGAAGA	0.423																																																	0													111	111	111					2																	160964291		2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2167G>A	2.37:g.160964291C>T	ENSP00000283249:p.Gly723Arg		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.G723R	ENST00000283249.2	37	c.2167	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.080753	0.94050	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97328	-3.61;-3.62;-4.34;-3.61	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	681;723	E9PEE8;P18564	.;ITB6_HUMAN	R	723;681;616;723	ENSP00000283249:G723R;ENSP00000408024:G681R;ENSP00000386828:G616R;ENSP00000386367:G723R	ENSP00000283249:G723R	G	-	1	0	ITGB6	160672537	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.487000	0.81328	2.739000	0.93911	0.655000	0.94253	GGG	ITGB6	-	pirsf_Integrin_bsu,prints_Integrin_bsu		0.423	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	C	NM_000888		160964291	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	missense	SNP	1.000	T	T	160964291	C	T	160964291	3	4	155	1	0	0	0	0	1	0	0	0	7919	652	23	2	207	2	ITGB6	2	160964291	Missense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09	87286553	160964291	82235082	8	27848										
SH3BP4	23677	genome.wustl.edu	37	chr2	235949858	235949858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tcgggggatggacagatgacAaaaaagtaccaggcagaatg	14	6	0	3			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:235949858A>C	ENST00000409212.1	+	4	952	c.445A>C	c.(445-447)Aaa>Caa	p.K149Q	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K149Q|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K149Q			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	149					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACAGATGACAAAAAAGTACC	0.512																																																	0													89	91	90					2																	235949858		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.445A>C	2.37:g.235949858A>C	ENSP00000386862:p.Lys149Gln		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.K149Q	ENST00000409212.1	37	c.445	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	A	4.968	0.179717	0.09443	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.26373	2.95;2.95;2.95;1.74	4.87	1.3	0.21679	.	1.123330	0.06534	N	0.741967	T	0.15696	0.0378	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34700	-0.9818	10	0.19147	T	0.46	-7.4444	6.9181	0.24371	0.5301:0.383:0.0869:0.0	.	149;149	A8K594;Q9P0V3	.;SH3B4_HUMAN	Q	149	ENSP00000375867:K149Q;ENSP00000386862:K149Q;ENSP00000340237:K149Q;ENSP00000415391:K149Q	ENSP00000340237:K149Q	K	+	1	0	SH3BP4	235614597	0.531000	0.26338	0.020000	0.16555	0.048000	0.14542	1.229000	0.32600	-0.015000	0.14150	0.533000	0.62120	AAA	SH3BP4	-	NULL		0.512	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	A			235949858	1	no_errors	ENST00000344528	ensembl	human	known	70_37	missense	SNP	0.091	C	C	235949858	A	C	235949858	3	2	155	1	0	0	0	0	1	0	0	0	14276	131	5	5	451	5	SH3BP4	2	235949858	Missense_Mutation	SNP	A	TCGA-JW-A5VG-01A-11D-A28B-09	74985567	235949858	7249515	9	27849										
BCHE	590	genome.wustl.edu	37	chr3	165547887	165547887	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	caaagtttactgacaaaggaGtcccataggggacaacaaat	9	8	0	1			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr3:165547887G>C	ENST00000264381.3	-	2	1101	c.935C>G	c.(934-936)aCt>aGt	p.T312S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	312					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TGACAAAGGAGTCCCATAGGG	0.388																																																	0													45	48	47					3																	165547887		2201	4295	6496	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.935C>G	3.37:g.165547887G>C	ENSP00000264381:p.Thr312Ser		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.T312S	ENST00000264381.3	37	c.935	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.105124	0.00033	.	.	ENSG00000114200	ENST00000264381	T	0.66280	-0.2	5.42	2.48	0.30137	Carboxylesterase, type B (1);	0.387498	0.29280	N	0.012613	T	0.19846	0.0477	N	0.00321	-1.65	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.07644	T	0.81	.	6.4826	0.22071	0.072:0.1304:0.6623:0.1353	.	312	P06276	CHLE_HUMAN	S	312	ENSP00000264381:T312S	ENSP00000264381:T312S	T	-	2	0	BCHE	167030581	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	0.544000	0.23253	0.644000	0.30656	0.655000	0.94253	ACT	BCHE	-	pfam_CarbesteraseB		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	G			165547887	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	missense	SNP	0.012	C	C	165547887	G	C	165547887	3	2	155	1	0	0	0	0	1	0	0	0	1359	1029	36	4	885	4	BCHE	3	165547887	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		165547887	32474543	10	27850										
NOP14	8602	genome.wustl.edu	37	chr4	2940996	2940996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gaacggcccctttaaattcaCgcttgtgtttgtggatcagc	10	10	2	0	rs148382749	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr4:2940996C>T	ENST00000314262.6	-	17	2441	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000507120.1_Intron|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.R798H|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Intron|NOP14_ENST00000502735.1_Intron|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	798					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTAAATTCACGCTTGTGTTT	0.493																																																	0								C	HIS/ARG	0,4406		0,0,2203	243	245	244		2393	4.6	0.8	4	dbSNP_134	244	3,8597	3.0+/-9.4	0,3,4297	no	missense	NOP14	NM_003703.1	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	798/858	2940996	3,13003	2203	4300	6503	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2393G>A	4.37:g.2940996C>T	ENSP00000315674:p.Arg798His		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.R798H	ENST00000314262.6	37	c.2393	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519447	0.85495	0.0	3.49E-4	ENSG00000087269	ENST00000416614;ENST00000314262	T;T	0.35973	1.28;1.28	5.44	4.59	0.56863	.	0.066852	0.64402	D	0.000011	T	0.66046	0.2750	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.72890	-0.4155	10	0.87932	D	0	-21.7793	14.7988	0.69898	0.0:0.9296:0.0:0.0704	.	798	P78316	NOP14_HUMAN	H	798	ENSP00000405068:R798H;ENSP00000315674:R798H	ENSP00000315674:R798H	R	-	2	0	NOP14	2910794	0.994000	0.37717	0.793000	0.32043	0.987000	0.75469	3.046000	0.49846	2.837000	0.97791	0.655000	0.94253	CGT	NOP14	-	pfam_Nop14		0.493	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	C	NM_003703		2940996	-1	no_errors	ENST00000416614	ensembl	human	known	70_37	missense	SNP	0.986	T	T	2940996	C	T	2940996	3	4	155	1	0	0	0	0	1	0	0	0	10560	536	19	2	188	2	NOP14	4	2940996	Missense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09		2940996	188213280	11	27851										
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984755	41984755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	aaggtcacgtgaatgagtccGcctatctgcccctgcatgtg	11	12	2	2	rs143365042		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr4:41984755G>A	ENST00000333141.5	+	1	1043	c.946G>A	c.(946-948)Gcc>Acc	p.A316T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	316										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAATGAGTCCGCCTATCTGCC	0.552																																																	0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	136	101	113		946	0.7	0.6	4	dbSNP_134	113	0,8600		0,0,4300	no	missense	DCAF4L1	NM_001029955.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/397	41984755	1,13005	2203	4300	6503	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.946G>A	4.37:g.41984755G>A	ENSP00000327796:p.Ala316Thr		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A316T	ENST00000333141.5	37	c.946	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869803	0.72065	2.27E-4	0.0	ENSG00000182308	ENST00000333141	T	0.57752	0.38	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	L	0.38175	1.15	0.41707	D	0.989439	D	0.67145	0.996	P	0.57468	0.821	T	0.39057	-0.9632	10	0.22109	T	0.4	.	7.1245	0.25463	1.0E-4:0.0:0.9999:0.0	.	316	Q3SXM0	DC4L1_HUMAN	T	316	ENSP00000327796:A316T	ENSP00000327796:A316T	A	+	1	0	DCAF4L1	41679512	1.000000	0.71417	0.631000	0.29282	0.752000	0.42762	5.659000	0.68010	0.635000	0.30488	0.313000	0.20887	GCC	DCAF4L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.552	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	G	NM_001029955		41984755	1	no_errors	ENST00000333141	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41984755	G	A	41984755	3	1	155	1	0	0	0	0	1	0	0	0	4276	1087	38	2	948	2	DCAF4L1	4	41984755	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	39043759	41984755	149169521	12	27852										
POLR2B	5431	genome.wustl.edu	37	chr4	57872999	57872999	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	cagtatgtttaagaatttgcTtaaagaagtgcggatctatg	10	4	1	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr4:57872999T>G	ENST00000381227.1	+	11	1648	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	POLR2B_ENST00000431623.2_Missense_Mutation_p.L337R|POLR2B_ENST00000314595.5_Missense_Mutation_p.L412R|POLR2B_ENST00000441246.2_Missense_Mutation_p.L405R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	412					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGAATTTGCTTAAAGAAGTG	0.328																																																	0													67	75	72					4																	57872999		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1235T>G	4.37:g.57872999T>G	ENSP00000370625:p.Leu412Arg		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.L412R	ENST00000381227.1	37	c.1235	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113200	0.77210	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.2	5.2	0.72013	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.41356	1.27	0.80722	D	1	B;B	0.29671	0.254;0.254	B;B	0.43783	0.431;0.431	T	0.68070	-0.5506	10	0.72032	D	0.01	.	15.3615	0.74478	0.0:0.0:0.0:1.0	.	337;412	C9J4M6;P30876	.;RPB2_HUMAN	R	412;337;405;412	ENSP00000370625:L412R;ENSP00000391096:L337R;ENSP00000391452:L405R;ENSP00000312735:L412R	ENSP00000312735:L412R	L	+	2	0	POLR2B	57567756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.134000	0.71689	2.102000	0.63906	0.533000	0.62120	CTT	POLR2B	-	pfam_RNA_pol_bsu_protrusion		0.328	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	T	NM_000938		57872999	1	no_errors	ENST00000314595	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57872999	T	G	57872999	3	3	155	1	0	0	0	0	1	0	0	0	12239	1609	56	5	1273	5	POLR2B	4	57872999	Missense_Mutation	SNP	T	TCGA-JW-A5VG-01A-11D-A28B-09	15888244	57872999	133281277	13	27853										
SLC12A7	10723	genome.wustl.edu	37	chr5	1078023	1078023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	cccgtgaggctctgcaggccGgcaccgcaggtggagaagaa	16	12	1	3			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr5:1078023G>A	ENST00000264930.5	-	12	1597	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	518					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGCAGGCCGGCACCGCAGG	0.701																																																	0													18	20	19					5																	1078023		2186	4282	6468	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1554C>T	5.37:g.1078023G>A			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A518	ENST00000264930.5	37	c.1554	CCDS34129.1	5																																																																																			SLC12A7	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.701	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	G	NM_006598		1078023	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	silent	SNP	0.553	A	A	1078023	G	A	1078023	2	1	155	1	0	0	0	0	0	0	0	1	14418	1103	39	2		2	SLC12A7	5	1078023	Silent	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		1078023	179837237	14	27854										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5186227	5186227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	atgagtataagtcttgcttaCggcataagcgctctcttctg	9	9	3	1			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr5:5186227C>T	ENST00000274181.7	+	5	964	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R276W	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	276					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCTTGCTTACGGCATAAGCG	0.493																																																	0													155	151	153					5																	5186227		1935	4157	6092	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.826C>T	5.37:g.5186227C>T	ENSP00000274181:p.Arg276Trp		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R276W	ENST00000274181.7	37	c.826	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231185	0.39399	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.67523	-0.15;-0.27	5.51	-3.35	0.04928	.	0.060291	0.64402	D	0.000008	T	0.78591	0.4307	M	0.81341	2.54	0.21697	N	0.999584	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.74131	-0.3764	10	0.72032	D	0.01	.	13.8206	0.63318	0.6976:0.2104:0.092:0.0	.	276;276;276	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	W	276	ENSP00000274181:R276W;ENSP00000421631:R276W	ENSP00000274181:R276W	R	+	1	2	ADAMTS16	5239227	0.032000	0.19561	0.000000	0.03702	0.085000	0.17905	0.315000	0.19451	-0.252000	0.09528	0.655000	0.94253	CGG	ADAMTS16	-	NULL		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5186227	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.000	T	T	5186227	C	T	5186227	3	4	155	1	0	0	0	0	1	0	0	0	261	527	19	2	844	2	ADAMTS16	5	5186227	Missense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09	4108204	5186227	175729033	15	27855										
PTPRD	5789	genome.wustl.edu	37	chr9	8499699	8499699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tgggctggcccttgggctcaCcattttccatcctcacataa	8	14	2	0			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:8499699C>T	ENST00000381196.4	-	22	2813	c.2270G>A	c.(2269-2271)gGt>gAt	p.G757D	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G744D|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.G744D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.G757D|PTPRD_ENST00000356435.5_Missense_Mutation_p.G757D|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	757	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTGGGCTCACCATTTTCCAT	0.443										TSP Lung(15;0.13)																																							0													184	159	167					9																	8499699		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2270G>A	9.37:g.8499699C>T	ENSP00000370593:p.Gly757Asp		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G757D	ENST00000381196.4	37	c.2270	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919749	0.73098	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.69	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.63428	1.95	0.80722	D	1	D;D;B	0.76494	0.962;0.999;0.202	P;D;B	0.75020	0.786;0.985;0.217	T	0.73665	-0.3911	9	.	.	.	.	16.5957	0.84795	0.0:0.8697:0.1303:0.0	.	744;757;757	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	D	757;757;744;744;757	ENSP00000370593:G757D;ENSP00000348812:G757D;ENSP00000353187:G744D;ENSP00000351293:G744D;ENSP00000438164:G757D	.	G	-	2	0	PTPRD	8489699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.782000	0.68973	1.379000	0.46325	0.591000	0.81541	GGT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8499699	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8499699	C	T	8499699	3	4	155	1	0	0	0	0	1	0	0	0	12829	507	18	4	3624	4	PTPRD	9	8499699	Missense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09		8499699	132713732	16	27856										
WNK2	65268	genome.wustl.edu	37	chr9	95947670	95947670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gcggcggcgaccgtgaggaaGgaggatgagggggcggccga	23	8	0	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:95947670G>T	ENST00000297954.4	+	1	459	c.459G>T	c.(457-459)aaG>aaT	p.K153N	WNK2_ENST00000395477.2_Missense_Mutation_p.K153N|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.K139N	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	153					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCGTGAGGAAGGAGGATGAGG	0.756																																																	0													7	9	9					9																	95947670		2140	4206	6346	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.459G>T	9.37:g.95947670G>T	ENSP00000297954:p.Lys153Asn		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K153N	ENST00000297954.4	37	c.459		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.853|9.853	1.194324|1.194324	0.22037|0.22037	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475|ENST00000432730	T;T;T;T|.	0.71461|.	-0.57;-0.42;-0.41;-0.56|.	4.14|4.14	2.27|2.27	0.28462|0.28462	.|.	0.539882|.	0.15009|.	N|.	0.285680|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.14661|0.14661	0.345|0.345	0.53688|0.53688	D|D	0.999973|0.999973	P;B;P;B|.	0.36535|.	0.557;0.403;0.557;0.421|.	B;B;B;B|.	0.33196|.	0.12;0.159;0.12;0.08|.	T|T	0.04678|0.04678	-1.0934|-1.0934	10|5	0.23891|.	T|.	0.37|.	.|.	8.8156|8.8156	0.34993|0.34993	0.2631:0.0:0.7369:0.0|0.2631:0.0:0.7369:0.0	.|.	153;153;153;153|.	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	N|M	153;153;153;139|149	ENSP00000412465:K153N;ENSP00000297954:K153N;ENSP00000378860:K153N;ENSP00000378858:K139N|.	ENSP00000297954:K153N|.	K|R	+|+	3|2	2|0	WNK2|WNK2	94987491|94987491	0.000000|0.000000	0.05858|0.05858	0.591000|0.591000	0.28745|0.28745	0.373000|0.373000	0.29922|0.29922	0.631000|0.631000	0.24568|0.24568	0.328000|0.328000	0.23435|0.23435	0.486000|0.486000	0.48141|0.48141	AAG|AGG	WNK2	-	NULL		0.756	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	G	NM_006648		95947670	1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	0.624	T	T	95947670	G	T	95947670	3	4	155	1	0	0	0	0	1	0	0	0	17409	991	35	4	461	4	WNK2	9	95947670	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	87447971	95947670	45265761	17	27857										
FANCC	2176	genome.wustl.edu	37	chr9	98009763	98009763	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gcttttgccaacagttgaccAattgtggggaatctttcaat	9	8	2	1			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:98009763A>G	ENST00000289081.3	-	3	455	c.201T>C	c.(199-201)atT>atC	p.I67I	FANCC_ENST00000375305.1_Silent_p.I67I	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	67					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ACAGTTGACCAATTGTGGGGA	0.328			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0													117	123	121					9																	98009763		2203	4299	6502	SO:0001819	synonymous_variant	2176	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.201T>C	9.37:g.98009763A>G			B1ALR8	Silent	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.I67	ENST00000289081.3	37	c.201	CCDS35071.1	9																																																																																			FANCC	-	pfam_Fanconi,pirsf_Fanconi		0.328	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	A	NM_000136		98009763	-1	no_errors	ENST00000289081	ensembl	human	known	70_37	silent	SNP	1.000	G	G	98009763	A	G	98009763	2	3	155	1	0	0	0	0	0	0	0	1	5682	126	5	5		5	FANCC	9	98009763	Silent	SNP	A	TCGA-JW-A5VG-01A-11D-A28B-09	2062093	98009763	43203668	18	27858										
DBC1	1620	genome.wustl.edu	37	chr9	121976225	121976225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tccaggtccttataagcttcGgcccaagacttggccatgtt	9	12	0	1	rs376177879		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:121976225G>A	ENST00000265922.3	-	6	1355	c.894C>T	c.(892-894)gcC>gcT	p.A298A	BRINP1_ENST00000373964.2_Silent_p.A298A	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	298					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TATAAGCTTCGGCCCAAGACT	0.542																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	114	109	111		894	-7.6	0.9	9		111	0,8600		0,0,4300	no	coding-synonymous	DBC1	NM_014618.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		298/762	121976225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.894C>T	9.37:g.121976225G>A			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.A298	ENST00000265922.3	37	c.894	CCDS6822.1	9																																																																																			DBC1	-	NULL		0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		121976225	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	0.221	A	A	121976225	G	A	121976225	2	1	155	1	0	0	0	0	0	0	0	1	4252	1103	39	2		2	DBC1	9	121976225	Silent	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	23966462	121976225	19237206	19	27859										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138714664	138714664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	cctcggtctcccttccccccGttcatcctccttggtgatca	6	19	3	1			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:138714664G>A	ENST00000389532.4	-	11	1907	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R337W|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R626W	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	615					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTCCCCCCGTTCATCCTCC	0.547																																																	0													55	60	59					9																	138714664		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1843C>T	9.37:g.138714664G>A	ENSP00000374183:p.Arg615Trp		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R626W	ENST00000389532.4	37	c.1876	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845481	0.32606	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15017	2.47;2.46;2.47	5.44	0.584	0.17422	.	0.335919	0.35772	N	0.002994	T	0.14830	0.0358	N	0.22421	0.69	0.23577	N	0.997379	P;D	0.54397	0.927;0.966	B;P	0.49853	0.339;0.624	T	0.11275	-1.0594	10	0.87932	D	0	-22.5886	9.6015	0.39607	0.8439:0.0:0.1561:0.0	.	615;626	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	W	615;337;626	ENSP00000374183:R615W;ENSP00000312463:R337W;ENSP00000386420:R626W	ENSP00000312463:R337W	R	-	1	2	CAMSAP1	137854485	0.983000	0.35010	0.015000	0.15790	0.022000	0.10575	2.972000	0.49256	0.188000	0.20168	0.655000	0.94253	CGG	CAMSAP1	-	NULL		0.547	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138714664	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.641	A	A	138714664	G	A	138714664	3	1	155	1	0	0	0	0	1	0	0	0	2616	1144	40	2	2993	2	CAMSAP1	9	138714664	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	16738439	138714664	2498767	20	27860										
GPRIN2	9721	genome.wustl.edu	37	chr10	46999178	46999178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gcactgtgggcaatgtgtccAccatgggcggcagtgacctg	15	11	0	1	rs7090312	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr10:46999178A>C	ENST00000374317.1	+	3	571	c.298A>C	c.(298-300)Acc>Ccc	p.T100P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T100P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	100			T -> P (in dbSNP:rs7090312).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAATGTGTCCACCATGGGCGG	0.657																																																	0													29	31	31					10																	46999178		2193	4285	6478	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.298A>C	10.37:g.46999178A>C	ENSP00000363436:p.Thr100Pro		Q5SVF0	Missense_Mutation	SNP	NULL	p.T100P	ENST00000374317.1	37	c.298	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481989	0.44147	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03635	3.86;3.86	5.57	-1.01	0.10169	.	0.659438	0.13433	N	0.388285	T	0.03959	0.0111	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40478	-0.9561	10	0.42905	T	0.14	-4.1201	1.1261	0.01735	0.3231:0.1696:0.3426:0.1646	rs7090312	100	O60269	GRIN2_HUMAN	P	100	ENSP00000363436:T100P;ENSP00000363433:T100P	ENSP00000363433:T100P	T	+	1	0	GPRIN2	46419184	0.000000	0.05858	0.005000	0.12908	0.978000	0.69477	0.003000	0.13083	0.152000	0.19188	0.528000	0.53228	ACC	GPRIN2	-	NULL		0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	A	NM_014696		46999178	1	no_errors	ENST00000374314	ensembl	human	known	70_37	missense	SNP	0.084	C	C	46999178	A	C	46999178	3	2	155	1	0	0	0	0	1	0	0	0	6750	159	6	5	300	5	GPRIN2	10	46999178	Missense_Mutation	SNP	A	TCGA-JW-A5VG-01A-11D-A28B-09		46999178	88535569	21	27861										
PCGF5	84333	genome.wustl.edu	37	chr10	93011180	93011180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tacgaaataatgggcaatcaGgggacaatgtagtaaaggtg	13	4	1	0			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr10:93011180G>A	ENST00000336126.5	+	6	689	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	PCGF5_ENST00000543648.1_Missense_Mutation_p.G153R	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGGGCAATCAGGGGACAATGT	0.328																																					Colon(178;732 2696 46441 50370)												0													125	118	121					10																	93011180		2203	4299	6502	SO:0001583	missense	84333			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.457G>A	10.37:g.93011180G>A	ENSP00000337500:p.Gly153Arg		B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G153R	ENST00000336126.5	37	c.457	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457375	0.84317	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.44083	0.93;0.93	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.48801	-0.9003	10	0.23891	T	0.37	-9.7153	20.6397	0.99537	0.0:0.0:1.0:0.0	.	153	Q86SE9	PCGF5_HUMAN	R	153	ENSP00000445704:G153R;ENSP00000337500:G153R	ENSP00000337500:G153R	G	+	1	0	PCGF5	93001160	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.076000	0.94009	2.880000	0.98712	0.650000	0.86243	GGG	PCGF5	-	NULL		0.328	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	G	NM_032373		93011180	1	no_errors	ENST00000336126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93011180	G	A	93011180	3	1	155	1	0	0	0	0	1	0	0	0	11601	1000	35	4	475	4	PCGF5	10	93011180	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	46012002	93011180	42523567	22	27862										
TDRD1	56165	genome.wustl.edu	37	chr10	115973875	115973875	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	catgtgcttaaagaggatggTaagttgattcttgtcatttg	11	4	2	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr10:115973875T>C	ENST00000369280.1	+	16	2672		c.e16+2		TDRD1_ENST00000369282.1_Splice_Site|TDRD1_ENST00000251864.2_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1						DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGAGGATGGTAAGTTGATTC	0.353																																																	0													274	251	259					10																	115973875		2203	4300	6503	SO:0001630	splice_region_variant	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2212+2T>C	10.37:g.115973875T>C			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Splice_Site	SNP	-	e15+2	ENST00000369280.1	37	c.2212+2		10	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662474	0.67700	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5632	0.61802	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD1	115963865	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.307000	0.65762	2.123000	0.65237	0.460000	0.39030	.	TDRD1	-	-		0.353	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	T		Intron	115973875	1	no_errors	ENST00000251864	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	115973875	T	C	115973875	5	2	155	1	0	0	0	0	0	0	1	0	15760	1652	57	5	2272	5	TDRD1	10	115973875	Splice_Site	SNP	T	TCGA-JW-A5VG-01A-11D-A28B-09	22962695	115973875	19560872	23	27863										
E2F8	79733	genome.wustl.edu	37	chr11	19251318	19251318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	ttggtgggcttgagtgggctGcaggtagatggcataggatg	19	4	0	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr11:19251318G>T	ENST00000527884.1	-	10	1808	c.1576C>A	c.(1576-1578)Cag>Aag	p.Q526K	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.Q526K	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	526					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTGGGCTGCAGGTAGATG	0.602																																																	0													105	100	102					11																	19251318		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1576C>A	11.37:g.19251318G>T	ENSP00000434199:p.Gln526Lys		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.Q526K	ENST00000527884.1	37	c.1576	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480129	0.44044	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.17370	2.28;2.28	5.63	5.63	0.86233	.	0.301981	0.36893	N	0.002355	T	0.18635	0.0447	M	0.62723	1.935	0.45129	D	0.998143	P	0.38922	0.651	B	0.27262	0.078	T	0.04053	-1.0981	10	0.27082	T	0.32	-12.102	19.3046	0.94155	0.0:0.0:1.0:0.0	.	526	A0AVK6	E2F8_HUMAN	K	526	ENSP00000434199:Q526K;ENSP00000250024:Q526K	ENSP00000250024:Q526K	Q	-	1	0	E2F8	19207894	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.235000	0.72332	2.652000	0.90054	0.655000	0.94253	CAG	E2F8	-	NULL		0.602	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	G	NM_024680		19251318	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19251318	G	T	19251318	3	4	155	1	0	0	0	0	1	0	0	0	4883	1328	46	4	1043	4	E2F8	11	19251318	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		19251318	115755198	24	27864										
ATM	472	genome.wustl.edu	37	chr11	108178704	108178704	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	ttgtggactacatgagaagaCaaaagaggtaatgtaatgag	12	3	0	4			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr11:108178704C>T	ENST00000452508.2	+	39	5944	c.5755C>T	c.(5755-5757)Caa>Taa	p.Q1919*	ATM_ENST00000278616.4_Nonsense_Mutation_p.Q1919*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1919					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATGAGAAGACAAAAGAGGTA	0.353			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													151	139	143					11																	108178704		2201	4298	6499	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5755C>T	11.37:g.108178704C>T	ENSP00000388058:p.Gln1919*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1919*	ENST00000452508.2	37	c.5755	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	48	14.645774	0.99804	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.3397	0.90300	0.0:1.0:0.0:0.0	.	.	.	.	X	1919	.	ENSP00000278616:Q1919X	Q	+	1	0	ATM	107683914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.156000	0.71840	2.854000	0.98071	0.655000	0.94253	CAA	ATM	-	superfamily_ARM-type_fold		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108178704	1	no_errors	ENST00000278616	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	108178704	C	T	108178704	4	4	155	1	0	0	0	0	0	1	0	0	1110	479	17	4	5901	4	ATM	11	108178704	Nonsense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09	88927386	108178704	26827812	25	27865										
DUOXA1	90527	genome.wustl.edu	37	chr15	45415085	45415085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	ccgtctttccccgaatgccaGgcaggatgacgatgaacgtg	12	12	1	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr15:45415085G>C	ENST00000560572.1	-	1	133	c.128C>G	c.(127-129)cCt>cGt	p.P43R	DUOXA1_ENST00000559014.1_Missense_Mutation_p.P43R|DUOXA1_ENST00000267803.4_Missense_Mutation_p.P43R|DUOXA1_ENST00000430224.2_Missense_Mutation_p.P43R|DUOXA1_ENST00000558422.1_Missense_Mutation_p.P43R|DUOXA1_ENST00000558996.1_Missense_Mutation_p.P43R	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	43					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CCGAATGCCAGGCAGGATGAC	0.567																																																	0													123	106	112					15																	45415085		2198	4298	6496	SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.128C>G	15.37:g.45415085G>C	ENSP00000454084:p.Pro43Arg		Q8N6K9|Q96MI4	Missense_Mutation	SNP	pfam_Dual_oxidase_maturation_fac	p.P43R	ENST00000560572.1	37	c.128		15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566702	0.86439	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.76186	-1.0;-1.0	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90153	0.4222	10	0.87932	D	0	-12.861	17.9011	0.88904	0.0:0.0:1.0:0.0	.	43;43;43;43	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	R	43	ENSP00000267803:P43R;ENSP00000415512:P43R	ENSP00000267803:P43R	P	-	2	0	DUOXA1	43202377	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.292000	0.72725	2.818000	0.97014	0.655000	0.94253	CCT	DUOXA1	-	pfam_Dual_oxidase_maturation_fac		0.567	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	DUOXA1	HGNC	protein_coding	OTTHUMT00000416242.1	G	NM_144565		45415085	-1	no_errors	ENST00000267803	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45415085	G	C	45415085	3	2	155	1	0	0	0	0	1	0	0	0	4812	1000	35	4	1355	4	DUOXA1	15	45415085	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		45415085	57116307	26	27866										
HERC1	8925	genome.wustl.edu	37	chr15	63972950	63972952	+	In_Frame_Del	DEL	CCT	CCT	-													0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	caacacacgtgccttcattaCctctgttttccttcacaata							TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr15:63972950_63972952delCCT	ENST00000443617.2	-	35	6336_6338	c.6249_6251delAGG	c.(6247-6252)agaggt>agt	p.2083_2084RG>S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2083	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCTTCATTACCTCTGTTTTCCT	0.365																																																	0																																										SO:0001651	inframe_deletion	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6249_6251delAGG	15.37:g.63972950_63972952delCCT	ENSP00000390158:p.Arg2083_Gly2084delinsSer		Q8IW65	In_Frame_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.RG2083in_frame_delS	ENST00000443617.2	37	c.6251_6249	CCDS45277.1	15																																																																																			HERC1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.365	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	CCT	NM_003922		63972952	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:0.999	-	-	63972952	CCT	-	63972950	7	5	155	1	0	1	0	1	0	0	0	0	7077	507	18	0	8510	0	HERC1	15	63972950	In_Frame_Del	DEL	CCT	TCGA-JW-A5VG-01A-11D-A28B-09	18557865	63972950	38558442	27	27867										
GTF3C1	2975	genome.wustl.edu	37	chr16	27504033	27504033	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	caccaccgaaaaaatgtaacGcctagaaaacagagggggcg	11	10	0	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr16:27504033G>A	ENST00000356183.4	-	18	2893	c.2878C>T	c.(2878-2880)Cgt>Tgt	p.R960C	GTF3C1_ENST00000561623.1_Splice_Site_p.R960C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	960					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAAATGTAACGCCTAGAAAAC	0.542																																																	0													87	90	89					16																	27504033		2197	4300	6497	SO:0001630	splice_region_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2877-1C>T	16.37:g.27504033G>A			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R960C	ENST00000356183.4	37	c.2878	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068939	0.76301	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	5.43	5.43	0.79202	.	0.113238	0.64402	D	0.000018	T	0.54481	0.1861	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.57694	-0.7767	10	0.87932	D	0	-24.7792	12.2189	0.54423	0.0:0.0:0.7161:0.2839	.	960;960	Q12789;Q12789-3	TF3C1_HUMAN;.	C	960;958	ENSP00000348510:R960C	ENSP00000348510:R960C	R	-	1	0	GTF3C1	27411534	1.000000	0.71417	0.991000	0.47740	0.655000	0.38815	6.500000	0.73687	2.547000	0.85894	0.655000	0.94253	CGT	GTF3C1	-	NULL		0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	G	NM_001520	Missense_Mutation	27504033	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27504033	G	A	27504033	5	1	155	1	0	0	0	0	0	0	1	0	6892	1101	38	2	3531	2	GTF3C1	16	27504033	Splice_Site	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		27504033	62850720	28	27868										
ZNF521	25925	genome.wustl.edu	37	chr18	22805593	22805593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tggagctgcaagtcagtttcGttgcggaagtcccagttgca	13	9	1	0			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr18:22805593G>A	ENST00000361524.3	-	4	2437	c.2289C>T	c.(2287-2289)aaC>aaT	p.N763N	ZNF521_ENST00000538137.2_Silent_p.N763N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.N543N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	763					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCAGTTTCGTTGCGGAAGT	0.473			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													96	84	88					18																	22805593		2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2289C>T	18.37:g.22805593G>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N763	ENST00000361524.3	37	c.2289	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	G	NM_015461		22805593	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	silent	SNP	0.018	A	A	22805593	G	A	22805593	2	1	155	1	0	0	0	0	0	0	0	1	17995	1136	40	2		2	ZNF521	18	22805593	Silent	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		22805593	55271655	29	27869										
SIRPA	140885	genome.wustl.edu	37	chr20	1915398	1915398	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	agaatgccagagaaataacaCaggtacagtccttggtgaga	11	7	0	3			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr20:1915398C>T	ENST00000358771.4	+	7	1416	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.Q422*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.Q422*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	422					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGAAATAACACAGGTACAGTC	0.453																																					GBM(155;1668 1920 5945 42733 48121)												0													156	135	142					20																	1915398		2203	4300	6503	SO:0001587	stop_gained	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1264C>T	20.37:g.1915398C>T	ENSP00000351621:p.Gln422*		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.Q422*	ENST00000358771.4	37	c.1264	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.786917	0.96937	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.43	4.43	0.53597	.	0.000000	0.41097	D	0.000946	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.7286	0.57185	0.0:1.0:0.0:0.0	.	.	.	.	X	422	.	ENSP00000348307:Q422X	Q	+	1	0	SIRPA	1863398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.136000	0.58004	2.456000	0.83038	0.561000	0.74099	CAG	SIRPA	-	NULL		0.453	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	C	NM_080792		1915398	1	no_errors	ENST00000400068	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	1915398	C	T	1915398	4	4	155	1	0	0	0	0	0	1	0	0	14362	479	17	4	1290	4	SIRPA	20	1915398	Nonsense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09		1915398	61110122	30	27870										
PLCB1	23236	genome.wustl.edu	37	chr20	8665620	8665620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	tcatgcgctatctgagtggaGaagaaaacggagtcgtttca	12	7	3	3			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr20:8665620G>A	ENST00000338037.6	+	10	931	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	PLCB1_ENST00000378641.3_Missense_Mutation_p.E302K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E302K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	302					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTGAGTGGAGAAGAAAACGG	0.433																																																	0													155	146	149					20																	8665620		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.904G>A	20.37:g.8665620G>A	ENSP00000338185:p.Glu302Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E302K	ENST00000338037.6	37	c.904	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999476	0.74818	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.46451	0.87;0.87;0.87	6.06	5.12	0.69794	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.55481	1.735	0.58432	D	0.999997	B;D	0.67145	0.389;0.996	B;P	0.62813	0.213;0.907	T	0.54801	-0.8239	10	0.35671	T	0.21	.	15.4877	0.75578	0.0662:0.0:0.9338:0.0	.	302;302	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	302;302;302;222;222	ENSP00000367908:E302K;ENSP00000338185:E302K;ENSP00000367904:E302K	ENSP00000338185:E302K	E	+	1	0	PLCB1	8613620	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.674000	0.74487	1.572000	0.49736	0.650000	0.86243	GAA	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.433	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8665620	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8665620	G	A	8665620	3	1	155	1	0	0	0	0	1	0	0	0	12051	943	33	1	942	1	PLCB1	20	8665620	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09	6750222	8665620	54359900	31	27871										
OVOL2	58495	genome.wustl.edu	37	chr20	18022346	18022346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	acagctgtgaaccaccgagtCgctgcacgtgcctgtggtga	13	12	0	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr20:18022346C>T	ENST00000278780.6	-	3	585	c.343G>A	c.(343-345)Gac>Aac	p.D115N	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	115					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACCACCGAGTCGCTGCACGTG	0.612																																																	0													77	56	63					20																	18022346		2203	4300	6503	SO:0001583	missense	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.343G>A	20.37:g.18022346C>T	ENSP00000278780:p.Asp115Asn		Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D115N	ENST00000278780.6	37	c.343	CCDS13132.1	20	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944620	0.34283	.	.	ENSG00000125850	ENST00000278780	T	0.08896	3.04	5.57	4.62	0.57501	.	0.319355	0.32624	N	0.005857	T	0.06325	0.0163	N	0.17082	0.46	0.24499	N	0.994268	B	0.23128	0.08	B	0.12837	0.008	T	0.28459	-1.0043	10	0.32370	T	0.25	-42.7003	14.876	0.70493	0.0:0.9297:0.0:0.0703	.	115	Q9BRP0	OVOL2_HUMAN	N	115	ENSP00000278780:D115N	ENSP00000278780:D115N	D	-	1	0	OVOL2	17970346	0.920000	0.31207	0.440000	0.26846	0.671000	0.39405	3.239000	0.51360	1.324000	0.45282	0.655000	0.94253	GAC	OVOL2	-	NULL		0.612	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5	C	NM_021220		18022346	-1	no_errors	ENST00000278780	ensembl	human	known	70_37	missense	SNP	0.611	T	T	18022346	C	T	18022346	3	4	155	1	0	0	0	0	1	0	0	0	11351	884	31	1	492	1	OVOL2	20	18022346	Missense_Mutation	SNP	C	TCGA-JW-A5VG-01A-11D-A28B-09	9356726	18022346	45003174	32	27872										
KCNJ6	3763	genome.wustl.edu	37	chr21	39086687	39086687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	aataccctacgttgatatccGtctggttcaacgggatgaac	9	10	2	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr21:39086687G>T	ENST00000609713.1	-	3	1362	c.773C>A	c.(772-774)aCg>aAg	p.T258K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T258K|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	258					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTTGATATCCGTCTGGTTCAA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0													115	117	117					21																	39086687		1913	4142	6055	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.773C>A	21.37:g.39086687G>T	ENSP00000477437:p.Thr258Lys		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T258K	ENST00000609713.1	37	c.773	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504223	0.64410	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91464	-2.85;-2.85	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.65320	2	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93492	0.6836	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	258	P48051	IRK6_HUMAN	K	258	ENSP00000383330:T258K;ENSP00000288309:T258K	ENSP00000288309:T258K	T	-	2	0	KCNJ6	38008557	1.000000	0.71417	0.973000	0.42090	0.708000	0.40852	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	ACG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	G	NM_002240		39086687	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39086687	G	T	39086687	3	4	155	1	0	0	0	0	1	0	0	0	8075	1145	40	2	506	2	KCNJ6	21	39086687	Missense_Mutation	SNP	G	TCGA-JW-A5VG-01A-11D-A28B-09		39086687	9043208	33	27873										
TTLL12	23170	genome.wustl.edu	37	chr22	43569750	43569750	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	gctctctcggtgccggatgaTgctgtgcaggctcttggtga	15	10	2	2			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr22:43569750T>A	ENST00000216129.6	-	9	1375	c.1312A>T	c.(1312-1314)Atc>Ttc	p.I438F	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	438	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGCCGGATGATGCTGTGCAGG	0.677																																																	0													73	66	69					22																	43569750		2203	4300	6503	SO:0001583	missense	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1312A>T	22.37:g.43569750T>A	ENSP00000216129:p.Ile438Phe		Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.I438F	ENST00000216129.6	37	c.1312	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261413	0.80358	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.08458	3.09	4.96	-0.999	0.10208	.	0.158159	0.53938	D	0.000058	T	0.29126	0.0724	M	0.92784	3.345	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.74023	0.982;0.982	T	0.01524	-1.1333	10	0.66056	D	0.02	-13.8995	6.8467	0.23992	0.0:0.1514:0.1096:0.7391	.	438;438	B1AH89;Q14166	.;TTL12_HUMAN	F	438	ENSP00000216129:I438F	ENSP00000216129:I438F	I	-	1	0	TTLL12	41899694	1.000000	0.71417	0.580000	0.28601	0.993000	0.82548	3.136000	0.50554	-0.637000	0.05516	0.383000	0.25322	ATC	TTLL12	-	pfam_Tub_tyr_ligase		0.677	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	T	NM_015140		43569750	-1	no_errors	ENST00000216129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43569750	T	A	43569750	3	1	155	1	0	0	0	0	1	0	0	0	16756	1464	51	5	646	5	TTLL12	22	43569750	Missense_Mutation	SNP	T	TCGA-JW-A5VG-01A-11D-A28B-09		43569750	7734816	34	27874										
TRO	7216	genome.wustl.edu	37	chrX	54951467	54951467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.33003300330033	0	0.364773319437207	1	1	0	atatgatgaatatttcccagAaatcattgaacgagcaagct	7	7	1	4			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chrX:54951467A>G	ENST00000173898.7	+	6	1563	c.1451A>G	c.(1450-1452)gAa>gGa	p.E484G	TRO_ENST00000399736.1_Missense_Mutation_p.E87G|TRO_ENST00000375041.2_Missense_Mutation_p.E87G|TRO_ENST00000319167.8_Missense_Mutation_p.E484G|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.E15G|TRO_ENST00000375022.4_Missense_Mutation_p.E484G|TRO_ENST00000484031.1_3'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	484	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TATTTCCCAGAAATCATTGAA	0.493																																																	0													62	56	58					X																	54951467		2147	4246	6393	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1451A>G	X.37:g.54951467A>G	ENSP00000173898:p.Glu484Gly		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E484G	ENST00000173898.7	37	c.1451	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278993	0.59758	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000431115;ENST00000375041	T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39	2.66	2.66	0.31614	.	.	.	.	.	T	0.28400	0.0702	M	0.93106	3.38	0.40789	D	0.983246	D;D;D;D	0.89917	0.997;0.987;1.0;0.997	D;D;D;D	0.91635	0.996;0.95;0.999;0.996	T	0.10064	-1.0646	9	0.87932	D	0	.	8.0191	0.30398	1.0:0.0:0.0:0.0	.	87;87;484;484	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	G	484;484;484;87;87;15;87;87	ENSP00000173898:E484G;ENSP00000318278:E484G;ENSP00000364162:E484G;ENSP00000382641:E87G;ENSP00000405126:E15G;ENSP00000407996:E87G;ENSP00000364181:E87G	ENSP00000173898:E484G	E	+	2	0	TRO	54968192	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.071000	0.57556	1.277000	0.44412	0.345000	0.21793	GAA	TRO	-	pfam_MAGE,pfscan_MAGE		0.493	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	A	NM_016157		54951467	1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54951467	A	G	54951467	3	3	155	1	0	0	0	0	1	0	0	0	16605	246	9	5	1469	5	TRO	23	54951467	Missense_Mutation	SNP	A	TCGA-JW-A5VG-01A-11D-A28B-09		54951467	100319093	35	27875										
ARID1A	8289	genome.wustl.edu	37	chr1	27057988	27057988	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cttaccagcagcagcaacctCagcagccagcaccctcgacg	8	18	1	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:27057988C>T	ENST00000324856.7	+	3	2067	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q566*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q183*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	566	Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAACCTCAGCAGCCAGC	0.637			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													156	158	157					1																	27057988		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1696C>T	1.37:g.27057988C>T	ENSP00000320485:p.Gln566*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q566*	ENST00000324856.7	37	c.1696	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.122945	0.97305	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.058016	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.4504	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	566;566;183	.	ENSP00000320485:Q566X	Q	+	1	0	ARID1A	26930575	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.822000	0.39052	2.824000	0.97209	0.655000	0.94253	CAG	ARID1A	-	NULL		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057988	1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27057988	C	T	27057988	4	4	156	1	0	0	0	0	0	1	0	0	913	827	29	1	1706	1	ARID1A	1	27057988	Nonsense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		27057988	222192633	1	27876										
PPIAL4G	644591	genome.wustl.edu	37	chr1	143767596	143767596	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ctttcggatgaggttctcatCatcaaatttctccccataga	6	11	4	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:143767596C>A	ENST00000419275.1	-	1	285	c.253G>T	c.(253-255)Gat>Tat	p.D85Y		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	85	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						AGGTTCTCATCATCAAATTTC	0.468																																																	0													39	38	38					1																	143767596		1551	3547	5098	SO:0001583	missense	644591				CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.253G>T	1.37:g.143767596C>A	ENSP00000393845:p.Asp85Tyr		A1L431	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.D85Y	ENST00000419275.1	37	c.253	CCDS41375.1	1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.884628	0.33255	.	.	ENSG00000236334	ENST00000419275	T	0.54071	0.59	0.523	-0.795	0.10915	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	U	0.000000	T	0.69584	0.3127	H	0.98936	4.375	0.27269	N	0.958421	D	0.89917	1.0	D	0.97110	1.0	T	0.60063	-0.7336	10	0.87932	D	0	.	4.7838	0.13215	0.0:0.7163:0.0:0.2837	.	85	A2BFH1	PAL4G_HUMAN	Y	85	ENSP00000393845:D85Y	ENSP00000393845:D85Y	D	-	1	0	PPIAL4G	142559119	0.984000	0.35163	0.084000	0.20598	0.059000	0.15707	2.763000	0.47605	-0.252000	0.09528	0.403000	0.27427	GAT	PPIAL4G	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4G	HGNC	protein_coding	OTTHUMT00000037969.1	C	NM_001123068		143767596	-1	no_errors	ENST00000419275	ensembl	human	known	70_37	missense	SNP	0.997	A	A	143767596	C	A	143767596	3	1	156	1	0	0	0	0	1	0	0	0	12345	826	29	3	245	3	PPIAL4G	1	143767596	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	116709608	143767596	105483025	2	27877										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155920934	155920934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttccgtggcctgcttttcagGggccacaggggcagccccag	14	14	1	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:155920934G>A	ENST00000361247.4	-	20	2488	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P769S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P798S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P769S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P842S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P796S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	797					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P769S(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCTTTTCAGGGGCCACAGGG	0.682																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - Missense(1)	skin(1)											9	10	10					1																	155920934		2197	4290	6487	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2389C>T	1.37:g.155920934G>A	ENSP00000354837:p.Pro797Ser		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P798S	ENST00000361247.4	37	c.2392	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808924	0.16537	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000321	T	0.04543	0.0124	N	0.14661	0.345	0.30221	N	0.79685	P;B;B;P	0.43477	0.664;0.279;0.4;0.808	B;B;B;B	0.36808	0.164;0.117;0.233;0.222	T	0.25467	-1.0131	10	0.21014	T	0.42	-16.6893	12.062	0.53568	0.0:0.1731:0.8269:0.0	.	841;797;796;798	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	S	769;797;798;769;796	ENSP00000315325:P769S;ENSP00000354837:P797S;ENSP00000357298:P798S;ENSP00000357299:P769S;ENSP00000314787:P796S	ENSP00000314787:P796S	P	-	1	0	ARHGEF2	154187558	0.008000	0.16893	0.391000	0.26233	0.049000	0.14656	1.770000	0.38532	2.762000	0.94881	0.655000	0.94253	CCT	ARHGEF2	-	NULL		0.682	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155920934	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	missense	SNP	0.811	A	A	155920934	G	A	155920934	3	1	156	1	0	0	0	0	1	0	0	0	903	1232	43	4	583	4	ARHGEF2	1	155920934	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	12153338	155920934	93329687	3	27878										
ANGPTL1	9068	genome.wustl.edu	37	chr1	178822864	178822864	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ctgttttcaggtttaatcatAtaaatcccactgaccgaatg	6	9	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:178822864A>G	ENST00000234816.2	-	4	1329	c.882T>C	c.(880-882)taT>taC	p.Y294Y	ANGPTL1_ENST00000367629.1_Silent_p.Y294Y|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	294	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTTTAATCATATAAATCCCAC	0.383																																																	0													106	101	102					1																	178822864		2203	4300	6503	SO:0001819	synonymous_variant	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.882T>C	1.37:g.178822864A>G			Q5T5Z5	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.Y294	ENST00000234816.2	37	c.882	CCDS1327.1	1																																																																																			ANGPTL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	A	NM_004673		178822864	-1	no_errors	ENST00000234816	ensembl	human	known	70_37	silent	SNP	0.908	G	G	178822864	A	G	178822864	2	3	156	1	0	0	0	0	0	0	0	1	613	456	16	5		5	ANGPTL1	1	178822864	Silent	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	22901930	178822864	70427757	4	27879										
APOBEC4	403314	genome.wustl.edu	37	chr1	183617796	183617796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttctgtgagggaaactcttgCttcttcacctgttcgaatat	8	9	4	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:183617796C>A	ENST00000308641.4	-	2	392	c.121G>T	c.(121-123)Gca>Tca	p.A41S	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	41					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAAACTCTTGCTTCTTCACCT	0.368																																																	0													105	101	102					1																	183617796		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.121G>T	1.37:g.183617796C>A	ENSP00000310622:p.Ala41Ser		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.A41S	ENST00000308641.4	37	c.121	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320765	0.60634	.	.	ENSG00000173627	ENST00000308641	T	0.15372	2.43	5.55	5.55	0.83447	.	0.131950	0.32753	N	0.005685	T	0.14056	0.0340	N	0.19112	0.55	0.35340	D	0.786383	P	0.47604	0.898	B	0.43701	0.428	T	0.12400	-1.0549	10	0.39692	T	0.17	-22.7054	14.003	0.64444	0.1515:0.8485:0.0:0.0	.	41	Q8WW27	ABEC4_HUMAN	S	41	ENSP00000310622:A41S	ENSP00000310622:A41S	A	-	1	0	APOBEC4	181884419	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.943000	0.49026	2.607000	0.88179	0.655000	0.94253	GCA	APOBEC4	-	NULL		0.368	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	C	NM_203454		183617796	-1	no_errors	ENST00000308641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183617796	C	A	183617796	3	1	156	1	0	0	0	0	1	0	0	0	796	797	28	4	986	4	APOBEC4	1	183617796	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	4794932	183617796	65632825	5	27880										
PTPRC	5788	genome.wustl.edu	37	chr1	198721850	198721850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aaaacttccccagaagaattCctctgaagggaacaagcatc	7	11	1	3			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:198721850C>T	ENST00000367376.2	+	31	3623	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	PTPRC_ENST00000348564.6_Missense_Mutation_p.S992F|PTPRC_ENST00000594404.1_Missense_Mutation_p.S990F|PTPRC_ENST00000442510.2_Missense_Mutation_p.S1153F|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1103F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1151	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1151F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGAAGAATTCCTCTGAAGGG	0.428																																																	1	Substitution - Missense(1)	skin(1)											73	71	72					1																	198721850		2203	4299	6502	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3452C>T	1.37:g.198721850C>T	ENSP00000356346:p.Ser1151Phe		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1153F	ENST00000367376.2	37	c.3458		1	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200088	0.09652	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.02763	4.17	5.78	-1.04	0.10068	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	1.763840	0.02919	N	0.137765	T	0.05364	0.0142	M	0.71206	2.165	0.09310	N	0.999998	B;B;B	0.22851	0.035;0.076;0.016	B;B;B	0.28139	0.037;0.086;0.026	T	0.46498	-0.9187	10	0.87932	D	0	.	2.7368	0.05242	0.0996:0.3271:0.3171:0.2562	.	992;1103;1151	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	1153;1103;1151;990	ENSP00000193532:S1103F	ENSP00000306782:S990F	S	+	2	0	PTPRC	196988473	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.276000	0.08514	0.085000	0.17107	-0.142000	0.14014	TCC	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		C			198721850	1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	0.000	T	T	198721850	C	T	198721850	3	4	156	1	0	0	0	0	1	0	0	0	12827	855	30	1	3581	1	PTPRC	1	198721850	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	15104054	198721850	50528771	6	27881										
USH2A	7399	genome.wustl.edu	37	chr1	215901724	215901724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cctcttcaatgccagcagggCgtctgaaaggaaaccaagca	10	12	3	1	rs201709470		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:215901724C>T	ENST00000307340.3	-	61	12100	c.11714G>A	c.(11713-11715)cGc>cAc	p.R3905H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3905H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3905	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCAGCAGGGCGTCTGAAAGG	0.423										HNSCC(13;0.011)			C|||	1	0.000199681	8e-04	0	5008	,	,		19711	0		0	False		,,,				2504	0																0													41	40	41					1																	215901724		2202	4300	6502	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11714G>A	1.37:g.215901724C>T	ENSP00000305941:p.Arg3905His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R3905H	ENST00000307340.3	37	c.11714	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649124	0.87958	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57273	0.41;0.41	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45126	D	0.000398	T	0.75481	0.3855	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78723	-0.2093	10	0.72032	D	0.01	.	19.1396	0.93443	0.0:1.0:0.0:0.0	.	3905	O75445	USH2A_HUMAN	H	3905	ENSP00000305941:R3905H;ENSP00000355910:R3905H	ENSP00000305941:R3905H	R	-	2	0	USH2A	213968347	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.654000	0.61469	2.573000	0.86826	0.585000	0.79938	CGC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215901724	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215901724	C	T	215901724	3	4	156	1	0	0	0	0	1	0	0	0	17067	768	27	2	3942	2	USH2A	1	215901724	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	17179874	215901724	33348897	7	27882										
GFPT1	2673	genome.wustl.edu	37	chr2	69573041	69573041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttcatatgtaattaccagtaTagtcatcaaagttgactctt	5	7	4	1	rs139562843		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:69573041T>G	ENST00000357308.4	-	12	1278	c.1100A>C	c.(1099-1101)tAt>tCt	p.Y367S	GFPT1_ENST00000361060.5_Missense_Mutation_p.Y349S	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	367	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATTACCAGTATAGTCATCAAA	0.363																																																	0													102	101	101					2																	69573041		2202	4300	6502	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1100A>C	2.37:g.69573041T>G	ENSP00000349860:p.Tyr367Ser		Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.Y367S	ENST00000357308.4	37	c.1100	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	T	7.942	0.743017	0.15642	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.70399	-0.48;-0.48	4.8	3.62	0.41486	.	0.165654	0.53938	D	0.000053	T	0.33440	0.0863	N	0.00729	-1.24	0.37218	D	0.9051	B	0.02656	0.0	B	0.01281	0.0	T	0.19289	-1.0310	10	0.11485	T	0.65	-9.807	8.6994	0.34316	0.3046:0.0:0.0:0.6954	.	349	Q06210-2	.	S	367;349	ENSP00000349860:Y367S;ENSP00000354347:Y349S	ENSP00000349860:Y367S	Y	-	2	0	GFPT1	69426545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.775000	0.55349	0.935000	0.37341	-0.333000	0.08304	TAT	GFPT1	-	tigrfam_GlmS_trans		0.363	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		T			69573041	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69573041	T	G	69573041	3	3	156	1	0	0	0	0	1	0	0	0	6364	1406	49	5	1035	5	GFPT1	2	69573041	Missense_Mutation	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09		69573041	173626332	8	27883										
GMCL1	64395	genome.wustl.edu	37	chr2	70057063	70057063	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cgggtgctgcgccagccaagAccagcccttgcccagcaggc	13	17	0	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:70057063A>T	ENST00000282570.3	+	1	290	c.39A>T	c.(37-39)agA>agT	p.R13S	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCAGCCAAGACCAGCCCTTG	0.706																																																	0													7	9	8					2																	70057063		2170	4232	6402	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.39A>T	2.37:g.70057063A>T	ENSP00000282570:p.Arg13Ser		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R13S	ENST00000282570.3	37	c.39	CCDS1895.1	2	.	.	.	.	.	.	.	.	.	.	A	7.272	0.607321	0.14002	.	.	ENSG00000087338	ENST00000282570	T	0.52754	0.65	4.59	1.57	0.23409	.	0.612910	0.16538	N	0.210071	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15263	-1.0443	10	0.27082	T	0.32	-4.1951	5.8938	0.18927	0.1845:0.1592:0.6563:0.0	.	13	Q96IK5	GMCL1_HUMAN	S	13	ENSP00000282570:R13S	ENSP00000282570:R13S	R	+	3	2	GMCL1	69910567	0.895000	0.30542	0.495000	0.27527	0.002000	0.02628	0.081000	0.14823	0.234000	0.21139	-0.292000	0.09595	AGA	GMCL1	-	NULL		0.706	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMCL1	HGNC	protein_coding	OTTHUMT00000251841.2	A	NM_178439		70057063	1	no_errors	ENST00000282570	ensembl	human	known	70_37	missense	SNP	0.339	T	T	70057063	A	T	70057063	3	4	156	1	0	0	0	0	1	0	0	0	6504	272	10	5	41	5	GMCL1	2	70057063	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	484022	70057063	173142310	9	27884										
PTPN4	5775	genome.wustl.edu	37	chr2	120725438	120725438	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gaatcggaagaactggggttCttattactatggaaacagcc	11	7	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:120725438C>A	ENST00000263708.2	+	26	3355	c.2584C>A	c.(2584-2586)Ctt>Att	p.L862I	PTPN4_ENST00000544261.1_Missense_Mutation_p.L495I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	862	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AACTGGGGTTCTTATTACTAT	0.378																																																	0													159	159	159					2																	120725438		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2584C>A	2.37:g.120725438C>A	ENSP00000263708:p.Leu862Ile		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L862I	ENST00000263708.2	37	c.2584	CCDS2129.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.245262|4.245262	0.80024|0.80024	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.15487|.	2.42;2.42|.	5.2|5.2	4.32|4.32	0.51571|0.51571	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68109|0.68109	0.2965|0.2965	L|L	0.57130|0.57130	1.785|1.785	0.58432|0.58432	D|D	0.999991|0.999991	B|.	0.11235|.	0.004|.	B|.	0.25506|.	0.061|.	T|T	0.66392|0.66392	-0.5935|-0.5935	10|5	0.59425|.	D|.	0.04|.	.|.	13.7246|13.7246	0.62750|0.62750	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	862|.	P29074|.	PTN4_HUMAN|.	I|Y	862;495|145	ENSP00000263708:L862I;ENSP00000445841:L495I|.	ENSP00000263708:L862I|.	L|S	+|+	1|2	0|0	PTPN4|PTPN4	120441908|120441908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.006000|6.006000	0.70724|0.70724	1.190000|1.190000	0.43042|0.43042	0.585000|0.585000	0.79938|0.79938	CTT|TCT	PTPN4	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.378	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	C			120725438	1	no_errors	ENST00000263708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120725438	C	A	120725438	3	1	156	1	0	0	0	0	1	0	0	0	12820	913	32	3	2682	3	PTPN4	2	120725438	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	50668375	120725438	122473935	10	27885										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125281921	125281921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tgtggcactcggttagcatcAacgccaggaggaaccgcatc	12	12	1	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:125281921A>C	ENST00000431078.1	+	9	1730	c.1366A>C	c.(1366-1368)Aac>Cac	p.N456H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTTAGCATCAACGCCAGGAG	0.507																																																	0													77	83	81					2																	125281921		2080	4223	6303	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1366A>C	2.37:g.125281921A>C	ENSP00000399013:p.Asn456His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N456H	ENST00000431078.1	37	c.1366	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810591	0.50421	.	.	ENSG00000155052	ENST00000431078	T	0.77877	-1.13	5.95	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.519773	0.16940	N	0.193320	D	0.84492	0.5484	L	0.61036	1.89	0.46542	D	0.999095	D	0.57257	0.979	D	0.63113	0.911	T	0.83041	-0.0157	10	0.49607	T	0.09	.	12.4564	0.55706	0.8599:0.1401:0.0:0.0	.	456	Q8WYK1	CNTP5_HUMAN	H	456	ENSP00000399013:N456H	ENSP00000399013:N456H	N	+	1	0	CNTNAP5	124998391	1.000000	0.71417	0.819000	0.32651	0.469000	0.32828	5.119000	0.64679	1.042000	0.40150	0.533000	0.62120	AAC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	A			125281921	1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	0.990	C	C	125281921	A	C	125281921	3	2	156	1	0	0	0	0	1	0	0	0	3655	130	5	5	1400	5	CNTNAP5	2	125281921	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	4556483	125281921	117917452	11	27886										
ZEB2	9839	genome.wustl.edu	37	chr2	145157710	145157710	+	Frame_Shift_Del	DEL	G	G	-													0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttaggggaagaacccgtcttGatattgtttctcattcggcc							TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:145157710delG	ENST00000558170.2	-	8	2228	c.1044delC	c.(1042-1044)atcfs	p.I348fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.I348fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.I324fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.I348fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	348					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACCCGTCTTGATATTGTTTC	0.398																																					Melanoma(33;1235 1264 5755 16332)												0													62	62	62					2																	145157710		2203	4300	6503	SO:0001589	frameshift_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1044delC	2.37:g.145157710delG	ENSP00000454157:p.Ile348fs		A0JP09|B7Z2P2|F5H814|Q9UED1	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.K349fs	ENST00000558170.2	37	c.1044	CCDS2186.1	2																																																																																			ZEB2	-	NULL		0.398	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145157710	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	145157710	G	-	145157710	7	5	156	1	0	1	0	1	0	0	0	0	17654	1280	45	0	2612	0	ZEB2	2	145157710	Frame_Shift_Del	DEL	G	TCGA-JW-A5VH-01A-11D-A28B-09	19875789	145157710	98041663	12	27887										
DCLK3	85443	genome.wustl.edu	37	chr3	36756965	36756965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aacctgatgagctgtgtagcGctttttggggtctaccacca	11	10	1	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:36756965G>A	ENST00000416516.2	-	5	2291	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTGTGTAGCGCTTTTTGGGG	0.517																																																	0													95	95	95					3																	36756965		1980	4151	6131	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1801C>T	3.37:g.36756965G>A	ENSP00000394484:p.Arg601Cys			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.R601C	ENST00000416516.2	37	c.1801	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476888	0.84640	.	.	ENSG00000163673	ENST00000416516	T	0.80738	-1.41	5.75	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32687	N	0.005766	D	0.94771	0.8312	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97566	1.0101	10	0.87932	D	0	.	16.6634	0.85247	0.0:0.0:0.8692:0.1308	.	601	Q9C098	DCLK3_HUMAN	C	601	ENSP00000394484:R601C	ENSP00000394484:R601C	R	-	1	0	DCLK3	36731969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.298000	0.59067	1.574000	0.49760	0.655000	0.94253	CGC	DCLK3	-	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		0.517	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	G	XM_047355		36756965	-1	no_errors	ENST00000416516	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36756965	G	A	36756965	3	1	156	1	0	0	0	0	1	0	0	0	4298	1087	38	2	149	2	DCLK3	3	36756965	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		36756965	161265465	13	27888										
CTNNB1	1499	genome.wustl.edu	37	chr3	41266098	41266098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gcagcaacagtcttacctggActctggaatccattctggtg	10	11	3	0	rs121913396|rs121913416		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:41266098A>G	ENST00000349496.5	+	3	375	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25G|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											92	77	82					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>G	3.37:g.41266098A>G	ENSP00000344456:p.Asp32Gly		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.D32G	ENST00000349496.5	37	c.95	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308122	0.81247	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74137	-0.3762	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	G	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25G;ENSP00000385604:D32G;ENSP00000412219:D32G;ENSP00000379486:D32G;ENSP00000344456:D32G;ENSP00000411226:D25G;ENSP00000379488:D32G;ENSP00000409302:D32G;ENSP00000401599:D32G	ENSP00000344456:D32G	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC	CTNNB1	-	NULL		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	A	NM_001098210		41266098	1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41266098	A	G	41266098	3	3	156	1	0	0	0	0	1	0	0	0	4021	275	10	5	101	5	CTNNB1	3	41266098	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	4509133	41266098	156756332	14	27889										
ZBTB47	92999	genome.wustl.edu	37	chr3	42700448	42700448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	agggtggtgtcgaggaggccGgtgggcccccagccagcttg	19	11	0	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:42700448G>A	ENST00000232974.6	+	2	882	c.601G>A	c.(601-603)Ggt>Agt	p.G201S	ZBTB47_ENST00000457842.3_De_novo_Start_OutOfFrame|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	201	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CGAGGAGGCCGGTGGGCCCCC	0.637																																																	0													13	17	16					3																	42700448		691	1590	2281	SO:0001583	missense	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.601G>A	3.37:g.42700448G>A	ENSP00000232974:p.Gly201Ser		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G201S	ENST00000232974.6	37	c.601	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435360	0.43224	.	.	ENSG00000114853	ENST00000232974;ENST00000542870	T	0.12147	2.71	3.36	1.54	0.23209	.	0.978397	0.08404	N	0.951019	T	0.08980	0.0222	N	0.22421	0.69	0.19775	N	0.999951	B	0.24483	0.104	B	0.15870	0.014	T	0.35798	-0.9774	10	0.51188	T	0.08	-5.6517	5.2476	0.15506	0.2765:0.0:0.7235:0.0	.	201	F5H6L2	.	S	201	ENSP00000232974:G201S	ENSP00000232974:G201S	G	+	1	0	ZBTB47	42675452	0.645000	0.27286	0.008000	0.14137	0.916000	0.54674	2.052000	0.41316	0.166000	0.19597	0.555000	0.69702	GGT	ZBTB47	-	NULL		0.637	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700448	1	no_errors	ENST00000232974	ensembl	human	known	70_37	missense	SNP	0.004	A	A	42700448	G	A	42700448	3	1	156	1	0	0	0	0	1	0	0	0	17578	1116	39	2	603	2	ZBTB47	3	42700448	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	1434350	42700448	155321982	15	27890										
COL7A1	1294	genome.wustl.edu	37	chr3	48629870	48629870	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ggctgtgggctgtggtattcTggatggtcagttccggccct	16	9	2	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:48629870T>G	ENST00000328333.8	-	8	1114	c.1007A>C	c.(1006-1008)cAg>cCg	p.Q336P	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q336P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	336	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGTATTCTGGATGGTCAG	0.627																																																	0													38	40	40					3																	48629870		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1007A>C	3.37:g.48629870T>G	ENSP00000332371:p.Gln336Pro		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q336P	ENST00000328333.8	37	c.1007	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	T	7.742	0.701580	0.15172	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57273	0.41;0.41	3.55	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40064	N	0.001193	T	0.46347	0.1388	L	0.59436	1.845	0.35816	D	0.824248	B	0.20887	0.049	B	0.23716	0.048	T	0.52793	-0.8528	10	0.29301	T	0.29	.	9.9201	0.41459	0.0:0.0:0.0:1.0	.	336	Q02388	CO7A1_HUMAN	P	336	ENSP00000332371:Q336P;ENSP00000412569:Q336P	ENSP00000332371:Q336P	Q	-	2	0	COL7A1	48604874	0.987000	0.35691	1.000000	0.80357	0.937000	0.57800	1.381000	0.34362	1.634000	0.50500	0.379000	0.24179	CAG	COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	T	NM_000094		48629870	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48629870	T	G	48629870	3	3	156	1	0	0	0	0	1	0	0	0	3709	1580	55	5	8271	5	COL7A1	3	48629870	Missense_Mutation	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09	5929422	48629870	149392560	16	27891										
IMPG2	50939	genome.wustl.edu	37	chr3	100964803	100964803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttcgagggaaaggctaatttGtgtgtagacactaaatcacc	10	7	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:100964803G>T	ENST00000193391.7	-	12	1573	c.1386C>A	c.(1384-1386)caC>caA	p.H462Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	462					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGGCTAATTTGTGTGTAGACA	0.512																																																	0													109	112	111					3																	100964803		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1386C>A	3.37:g.100964803G>T	ENSP00000193391:p.His462Gln		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.H462Q	ENST00000193391.7	37	c.1386	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	8.628	0.893007	0.17613	.	.	ENSG00000081148	ENST00000193391	T	0.21031	2.03	5.87	1.61	0.23674	.	1.212820	0.05597	N	0.575682	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.039;0.022	B;B	0.06405	0.002;0.002	T	0.33394	-0.9870	10	0.21014	T	0.42	1.3072	5.288	0.15712	0.2953:0.0:0.5152:0.1895	.	462;462	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Q	462	ENSP00000193391:H462Q	ENSP00000193391:H462Q	H	-	3	2	IMPG2	102447493	0.966000	0.33281	0.004000	0.12327	0.958000	0.62258	0.235000	0.17948	0.388000	0.25054	0.655000	0.94253	CAC	IMPG2	-	NULL		0.512	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	G			100964803	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	0.000	T	T	100964803	G	T	100964803	3	4	156	1	0	0	0	0	1	0	0	0	7749	1368	48	4	2371	4	IMPG2	3	100964803	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	52334933	100964803	97057627	17	27892										
PLD1	5337	genome.wustl.edu	37	chr3	171427491	171427491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tatagctgttgcattttaaaAtaagtgtcctttaaagaaaa	6	4	0	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:171427491A>G	ENST00000351298.4	-	10	1046	c.920T>C	c.(919-921)aTt>aCt	p.I307T	PLD1_ENST00000340989.4_Missense_Mutation_p.I307T|PLD1_ENST00000356327.5_Missense_Mutation_p.I307T|PLD1_ENST00000342215.6_Missense_Mutation_p.I307T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	307	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCATTTTAAAATAAGTGTCCT	0.363																																					NSCLC(149;2174 3517 34058)												0													96	96	96					3																	171427491		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.920T>C	3.37:g.171427491A>G	ENSP00000342793:p.Ile307Thr			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.I307T	ENST00000351298.4	37	c.920	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456736	0.43634	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.59	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.224729	0.46145	D	0.000307	D	0.89054	0.6606	N	0.11818	0.18	0.44395	D	0.997308	B;B	0.23128	0.08;0.009	B;B	0.32090	0.14;0.038	T	0.81726	-0.0801	10	0.10111	T	0.7	-17.9042	11.1701	0.48567	0.8619:0.0:0.0:0.1381	.	330;307	Q59EA4;Q13393	.;PLD1_HUMAN	T	307	ENSP00000348681:I307T;ENSP00000342793:I307T;ENSP00000339936:I307T;ENSP00000340326:I307T	ENSP00000340326:I307T	I	-	2	0	PLD1	172910185	1.000000	0.71417	0.954000	0.39281	0.991000	0.79684	8.547000	0.90665	0.924000	0.37069	0.455000	0.32223	ATT	PLD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLipase_D_euk		0.363	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	A	NM_002662		171427491	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	missense	SNP	1.000	G	G	171427491	A	G	171427491	3	3	156	1	0	0	0	0	1	0	0	0	12069	101	4	5	2376	5	PLD1	3	171427491	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	70462688	171427491	26594939	18	27893										
PIK3CA	5290	genome.wustl.edu	37	chr3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	agtgactttagaatgcctccGtgaggctacattaataacca	8	9	0	3			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:178916726G>A	ENST00000263967.3	+	2	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R38H(10)|p.R38L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	12	Substitution - Missense(12)	endometrium(7)|large_intestine(3)|lung(2)											76	74	75					3																	178916726		1838	4082	5920	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.113G>A	3.37:g.178916726G>A	ENSP00000263967:p.Arg38His		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R38H	ENST00000263967.3	37	c.113	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755529	0.89843	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73681	-0.77;-0.77	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83898	0.0288	9	.	.	.	-9.214	19.2635	0.93977	0.0:0.0:1.0:0.0	.	38	P42336	PK3CA_HUMAN	H	38	ENSP00000263967:R38H;ENSP00000417479:R38H	.	R	+	2	0	PIK3CA	180399420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	CGT	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178916726	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178916726	G	A	178916726	3	1	156	1	0	0	0	0	1	0	0	0	11937	1145	40	2	115	2	PIK3CA	3	178916726	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	7489235	178916726	19105704	19	27894										
GPR78	27201	genome.wustl.edu	37	chr4	8583293	8583293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ctgcctcacctcgctccaggTgcaccgggtggcacgcagac	12	17	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr4:8583293T>C	ENST00000382487.4	+	1	1001	c.584T>C	c.(583-585)gTg>gCg	p.V195A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	195					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGCTCCAGGTGCACCGGGTG	0.697																																																	0													8	8	8					4																	8583293		2162	4196	6358	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.584T>C	4.37:g.8583293T>C	ENSP00000371927:p.Val195Ala		Q8NGV3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V195A	ENST00000382487.4	37	c.584	CCDS3403.1	4	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701205	0.48307	.	.	ENSG00000155269	ENST00000382487	T	0.39056	1.1	2.24	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000014	T	0.53722	0.1814	L	0.56199	1.76	0.38655	D	0.951939	D	0.71674	0.998	D	0.71870	0.975	T	0.57075	-0.7873	10	0.87932	D	0	.	8.9426	0.35740	0.0:0.0:0.0:1.0	.	195	Q96P69	GPR78_HUMAN	A	195	ENSP00000371927:V195A	ENSP00000371927:V195A	V	+	2	0	GPR78	8634193	1.000000	0.71417	0.009000	0.14445	0.109000	0.19521	4.835000	0.62781	0.617000	0.30160	0.260000	0.18958	GTG	GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	T			8583293	1	no_errors	ENST00000382487	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8583293	T	C	8583293	3	2	156	1	0	0	0	0	1	0	0	0	6729	1696	59	5	586	5	GPR78	4	8583293	Missense_Mutation	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09		8583293	182570983	20	27895										
CDH10	1008	genome.wustl.edu	37	chr5	24593378	24593378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cacaagcttaccttgcctacGtactgataatcagatcctgt	6	12	1	2	rs559158011		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:24593378G>A	ENST00000264463.4	-	2	729	c.222C>T	c.(220-222)taC>taT	p.Y74Y	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTTGCCTACGTACTGATAAT	0.333										HNSCC(23;0.051)			G|||	1	0.000199681	0	0	5008	,	,		15881	0		0.001	False		,,,				2504	0																0													115	116	116					5																	24593378		2203	4300	6503	SO:0001819	synonymous_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.222C>T	5.37:g.24593378G>A			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y74	ENST00000264463.4	37	c.222	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like		0.333	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	G	NM_006727		24593378	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	silent	SNP	0.986	A	A	24593378	G	A	24593378	2	1	156	1	0	0	0	0	0	0	0	1	3101	1140	40	2		2	CDH10	5	24593378	Silent	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		24593378	156321882	21	27896										
PPIP5K2	23262	genome.wustl.edu	37	chr5	102490374	102490375	+	Splice_Site	INS	-	-	T													0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gttctgtcttttttataagaINSttttttgatctttttgaaaa							TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:102490374_102490375insT	ENST00000358359.3	+	12	1727_1728	c.1218_1219insT	c.(1219-1221)ttt>Tttt	p.F407fs	PPIP5K2_ENST00000321521.9_Splice_Site_p.F407fs|PPIP5K2_ENST00000414217.1_Splice_Site_p.F407fs|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	407	Polyphosphoinositide-binding domain.				inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTTATAAGATTTTTTGATCT	0.267																																																	0																																										SO:0001630	splice_region_variant	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1218-1->T	5.37:g.102490380_102490380dupT			A1NI53|A6NGS8|Q8TB50	Frame_Shift_Ins	INS	pfam_His_Pase_superF_clade-2	p.D408fs	ENST00000358359.3	37	c.1218_1219		5																																																																																			PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.267	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	-	NM_015216	Frame_Shift_Ins	102490375	1	no_errors	ENST00000358359	ensembl	human	known	70_37	frame_shift_ins	INS	0.992:1.000	T	T	102490375	-	T	102490374	8	5	156	1	0	1	1	0	0	0	1	0	12360	347	12	0	1260	0	PPIP5K2	5	102490374	Splice_Site	INS	-	TCGA-JW-A5VH-01A-11D-A28B-09	77896996	102490374	78424886	22	27897										
GFPT2	9945	genome.wustl.edu	37	chr5	179757762	179757762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gtcctcagtttctctgttgtCgaacacatatttaatcagct	6	10	3	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:179757762C>T	ENST00000253778.8	-	6	641	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	158	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCTCTGTTGTCGAACACATAT	0.438																																																	0													207	187	193					5																	179757762		1967	4145	6112	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.472G>A	5.37:g.179757762C>T	ENSP00000253778:p.Asp158Asn		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.D158N	ENST00000253778.8	37	c.472	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.573973	0.96553	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76839	-1.05;-1.05	5.83	5.83	0.93111	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	L	0.59436	1.845	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.69254	-0.5193	9	.	.	.	-44.4492	20.1218	0.97964	0.0:1.0:0.0:0.0	.	158	O94808	GFPT2_HUMAN	N	158;60	ENSP00000253778:D158N;ENSP00000431125:D60N	.	D	-	1	0	GFPT2	179690368	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.618000	0.83043	2.763000	0.94921	0.561000	0.74099	GAC	GFPT2	-	pfam_GATase_dom		0.438	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179757762	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179757762	C	T	179757762	3	4	156	1	0	0	0	0	1	0	0	0	6365	884	31	1	1632	1	GFPT2	5	179757762	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	77267388	179757762	1157498	23	27898										
B3GALT4	8705	genome.wustl.edu	37	chr6	33245425	33245425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ctcccttcctgctcatcctgGtgtgcacggctccggagaac	10	16	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr6:33245425G>A	ENST00000451237.1	+	1	509	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	77					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCTCATCCTGGTGTGCACGGC	0.692																																																	0													51	63	59					6																	33245425		2191	4296	6487	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.229G>A	6.37:g.33245425G>A	ENSP00000390784:p.Val77Met			Missense_Mutation	SNP	pfam_Glyco_trans_31	p.V77M	ENST00000451237.1	37	c.229	CCDS34425.1	6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717169	0.89205	.	.	ENSG00000235863	ENST00000451237	T	0.63255	-0.03	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000005	T	0.60495	0.2273	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.67991	-0.5527	10	0.87932	D	0	.	14.8325	0.70159	0.0:0.0:1.0:0.0	.	77	O96024	B3GT4_HUMAN	M	77	ENSP00000390784:V77M	ENSP00000390784:V77M	V	+	1	0	B3GALT4	33353403	1.000000	0.71417	0.992000	0.48379	0.862000	0.49288	5.778000	0.68940	2.356000	0.79943	0.549000	0.68633	GTG	B3GALT4	-	NULL		0.692	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	G			33245425	1	no_errors	ENST00000451237	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33245425	G	A	33245425	3	1	156	1	0	0	0	0	1	0	0	0	1250	1261	44	4	231	4	B3GALT4	6	33245425	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		33245425	137869642	24	27899										
PKHD1	5314	genome.wustl.edu	37	chr6	51619602	51619602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	caatatgccggtgtttgagcCgttcatagatcctcacatgg	10	10	2	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr6:51619602C>T	ENST00000371117.3	-	56	9052	c.8777G>A	c.(8776-8778)cGg>cAg	p.R2926Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2926Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2926					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTTTGAGCCGTTCATAGAT	0.468																																																	0													151	134	140					6																	51619602		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8777G>A	6.37:g.51619602C>T	ENSP00000360158:p.Arg2926Gln		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.R2926Q	ENST00000371117.3	37	c.8777	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896109	0.33442	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.03;-2.22	5.49	0.6	0.17524	.	0.386204	0.23440	N	0.048157	T	0.69079	0.3071	L	0.49640	1.575	0.19945	N	0.999941	D;P;D	0.60575	0.988;0.918;0.976	B;B;B	0.42319	0.383;0.362;0.227	T	0.64257	-0.6450	10	0.46703	T	0.11	.	6.6869	0.23150	0.0:0.5337:0.1193:0.3469	.	2926;2926;2926	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	2926	ENSP00000360158:R2926Q;ENSP00000341097:R2926Q	ENSP00000341097:R2926Q	R	-	2	0	PKHD1	51727561	0.000000	0.05858	0.679000	0.29978	0.191000	0.23601	-0.320000	0.08028	0.103000	0.17682	-0.126000	0.14955	CGG	PKHD1	-	NULL		0.468	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51619602	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.402	T	T	51619602	C	T	51619602	3	4	156	1	0	0	0	0	1	0	0	0	11995	652	23	2	3534	2	PKHD1	6	51619602	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	18374177	51619602	119495465	25	27900										
SYNE1	23345	genome.wustl.edu	37	chr6	152738082	152738082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tcagcacggcccagagaaccCaactttgctaagtgaccctg	9	14	1	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr6:152738082C>A	ENST00000367255.5	-	41	6091	c.5490G>T	c.(5488-5490)ttG>ttT	p.L1830F	SYNE1_ENST00000341594.5_Missense_Mutation_p.L1867F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1837F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1837F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1830F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1830					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGAGAACCCAACTTTGCTA	0.562										HNSCC(10;0.0054)																																							0													108	109	108					6																	152738082		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5490G>T	6.37:g.152738082C>A	ENSP00000356224:p.Leu1830Phe		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1830F	ENST00000367255.5	37	c.5490	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721722	0.30503	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	6.16	1.35	0.21983	.	0.000000	0.48286	D	0.000196	T	0.46151	0.1378	M	0.66939	2.045	0.80722	D	1	D;P;P;B	0.89917	1.0;0.84;0.84;0.147	D;B;B;B	0.85130	0.997;0.405;0.405;0.105	T	0.42430	-0.9452	10	0.30854	T	0.27	.	5.8585	0.18732	0.0:0.4682:0.2324:0.2994	.	1813;1830;1830;1837	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	1830;1837;1830;1837;1867	ENSP00000356224:L1830F;ENSP00000396024:L1837F;ENSP00000265368:L1830F;ENSP00000390975:L1837F;ENSP00000341887:L1867F	ENSP00000265368:L1830F	L	-	3	2	SYNE1	152779775	0.072000	0.21174	0.291000	0.24904	0.341000	0.28922	0.068000	0.14531	0.477000	0.27464	0.650000	0.86243	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152738082	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.827	A	A	152738082	C	A	152738082	3	1	156	1	0	0	0	0	1	0	0	0	15475	593	21	4	21400	4	SYNE1	6	152738082	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	101118480	152738082	18376985	26	27901										
TRRAP	8295	genome.wustl.edu	37	chr7	98581869	98581869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	agctctggatatattaagtcGgattcatactattccaactg	7	8	2	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:98581869G>A	ENST00000359863.4	+	60	9397	c.9188G>A	c.(9187-9189)cGg>cAg	p.R3063Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3034Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3034Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3063	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATATTAAGTCGGATTCATACT	0.463																																																	0													185	170	175					7																	98581869		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9188G>A	7.37:g.98581869G>A	ENSP00000352925:p.Arg3063Gln		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R3063Q	ENST00000359863.4	37	c.9188	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.963585|5.963585	0.97151|0.97151	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.68903	.|-0.09;-0.36	5.26|5.26	5.26|5.26	0.73747|0.73747	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81592|0.81592	0.4855|0.4855	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74023	.|0.966;0.967;0.982	D|D	0.83429|0.83429	0.0037|0.0037	5|10	.|0.72032	.|D	.|0.01	.|.	18.8704|18.8704	0.92311|0.92311	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3034;2773;3063	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	R|Q	2774|3063;3034;3033	.|ENSP00000352925:R3063Q;ENSP00000347733:R3034Q	.|ENSP00000347733:R3034Q	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98419805|98419805	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.996000|0.996000	0.88848|0.88848	9.750000|9.750000	0.98875|0.98875	2.481000|2.481000	0.83766|0.83766	0.655000|0.655000	0.94253|0.94253	GGA|CGG	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98581869	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98581869	G	A	98581869	3	1	156	1	0	0	0	0	1	0	0	0	16632	1116	39	2	9331	2	TRRAP	7	98581869	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		98581869	60556794	27	27902										
SCARA5	286133	genome.wustl.edu	37	chr8	27737165	27737165	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cacaccacgtctccgtccttCttgtcccagccgtcgtcaca	6	19	3	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:27737165C>T	ENST00000354914.3	-	8	1757	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	SCARA5_ENST00000380385.2_Silent_p.K199K	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	424	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTCCGTCCTTCTTGTCCCAGC	0.642																																																	0													136	108	117					8																	27737165		2203	4300	6503	SO:0001819	synonymous_variant	286133			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1272G>A	8.37:g.27737165C>T			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.K424	ENST00000354914.3	37	c.1272	CCDS6064.1	8																																																																																			SCARA5	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	C	NM_173833		27737165	-1	no_errors	ENST00000354914	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27737165	C	T	27737165	2	4	156	1	0	0	0	0	0	0	0	1	13910	912	32	1		1	SCARA5	8	27737165	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		27737165	118626857	28	27903										
ADAM32	203102	genome.wustl.edu	37	chr8	39080597	39080597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gaatgtaggccgaaagcacaTcctgaatgtgacatcgctga	11	9	0	3			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:39080597T>G	ENST00000379907.4	+	14	1492	c.1365T>G	c.(1363-1365)caT>caG	p.H455Q	ADAM32_ENST00000437682.2_Missense_Mutation_p.H356Q|ADAM32_ENST00000519315.1_Missense_Mutation_p.H349Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	455	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CGAAAGCACATCCTGAATGTG	0.323																																																	0													62	57	59					8																	39080597		1877	4105	5982	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1365T>G	8.37:g.39080597T>G	ENSP00000369238:p.His455Gln		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.H455Q	ENST00000379907.4	37	c.1365	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310036	0.40895	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.10960	4.09;4.15;2.82	5.55	3.18	0.36537	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.34411	N	0.003988	T	0.18299	0.0439	L	0.45228	1.405	0.09310	N	1	D;P;B	0.63880	0.993;0.955;0.295	D;P;B	0.65987	0.94;0.677;0.356	T	0.07046	-1.0793	10	0.27785	T	0.31	.	7.171	0.25719	0.0:0.1782:0.0:0.8218	.	356;349;455	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	356;349;455	ENSP00000405978:H356Q;ENSP00000429422:H349Q;ENSP00000369238:H455Q	ENSP00000369238:H455Q	H	+	3	2	ADAM32	39199754	0.017000	0.18338	0.012000	0.15200	0.036000	0.12997	0.263000	0.18478	0.485000	0.27652	0.533000	0.62120	CAT	ADAM32	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.323	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	T	NM_145004		39080597	1	no_errors	ENST00000379907	ensembl	human	known	70_37	missense	SNP	0.027	G	G	39080597	T	G	39080597	3	3	156	1	0	0	0	0	1	0	0	0	249	1432	50	5	1419	5	ADAM32	8	39080597	Missense_Mutation	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09	11343432	39080597	107283425	29	27904										
EYA1	2138	genome.wustl.edu	37	chr8	72182004	72182004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tctgttggcgtaggacccagTaagcaaggagtggaaaacaa	13	7	1	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:72182004T>C	ENST00000340726.3	-	11	1660	c.1021A>G	c.(1021-1023)Act>Gct	p.T341A	EYA1_ENST00000388741.2_Missense_Mutation_p.T307A|EYA1_ENST00000388743.2_Missense_Mutation_p.T340A|EYA1_ENST00000388740.3_Missense_Mutation_p.T308A|EYA1_ENST00000303824.7_Missense_Mutation_p.T335A|EYA1_ENST00000388742.4_Missense_Mutation_p.T341A|EYA1_ENST00000419131.1_Missense_Mutation_p.T336A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	341					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TAGGACCCAGTAAGCAAGGAG	0.398																																																	0													165	150	155					8																	72182004		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1021A>G	8.37:g.72182004T>C	ENSP00000342626:p.Thr341Ala		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.T341A	ENST00000340726.3	37	c.1021	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941147	0.92526	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-1.56	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	M	0.66506	2.035	0.80722	D	1	D;D;D;P;D	0.58620	0.983;0.962;0.962;0.954;0.966	D;P;P;D;P	0.68039	0.955;0.764;0.821;0.93;0.881	D	0.98185	1.0459	10	0.46703	T	0.11	-14.2268	16.2479	0.82454	0.0:0.0:0.0:1.0	.	335;268;308;341;336	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	A	341;341;309;308;335;307;340;336	ENSP00000373394:T341A;ENSP00000342626:T341A;ENSP00000373392:T308A;ENSP00000303221:T335A;ENSP00000373393:T307A;ENSP00000373395:T340A;ENSP00000410176:T336A	ENSP00000303221:T335A	T	-	1	0	EYA1	72344558	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.649000	0.83500	2.241000	0.73720	0.533000	0.62120	ACT	EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA		0.398	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	T	NM_000503, NM_172060		72182004	-1	no_errors	ENST00000340726	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72182004	T	C	72182004	3	2	156	1	0	0	0	0	1	0	0	0	5340	1638	57	5	789	5	EYA1	8	72182004	Missense_Mutation	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09	33101407	72182004	74182018	30	27905										
ADCY8	114	genome.wustl.edu	37	chr8	132052022	132052022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttggtcagcacgtccagcacGttcatcaccacttccgattt	7	14	3	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:132052022G>A	ENST00000286355.5	-	1	2650	c.558C>T	c.(556-558)aaC>aaT	p.N186N	ADCY8_ENST00000377928.3_Silent_p.N186N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	186					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGTCCAGCACGTTCATCACCA	0.567										HNSCC(32;0.087)																																							0													95	97	96					8																	132052022		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.558C>T	8.37:g.132052022G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.N186	ENST00000286355.5	37	c.558	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132052022	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132052022	G	A	132052022	2	1	156	1	0	0	0	0	0	0	0	1	300	1136	40	2		2	ADCY8	8	132052022	Silent	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	59870018	132052022	14312000	31	27906										
OR13A1	79290	genome.wustl.edu	37	chr10	45799325	45799325	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gggccacagaaatccaagcgCagcatcagccccgtgtggat	12	13	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:45799325C>A	ENST00000553795.1	-	4	854	c.546G>T	c.(544-546)ctG>ctT	p.L182L	OR13A1_ENST00000536058.1_Silent_p.L182L|OR13A1_ENST00000374401.2_Silent_p.L182L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AATCCAAGCGCAGCATCAGCC	0.587																																																	0													47	49	49					10																	45799325		2203	4296	6499	SO:0001819	synonymous_variant	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.546G>T	10.37:g.45799325C>A			Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L182	ENST00000553795.1	37	c.546	CCDS31188.1	10																																																																																			OR13A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.587	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	C	NM_001004297		45799325	-1	no_errors	ENST00000374401	ensembl	human	known	70_37	silent	SNP	0.000	A	A	45799325	C	A	45799325	2	1	156	1	0	0	0	0	0	0	0	1	10957	697	25	4		4	OR13A1	10	45799325	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		45799325	89735422	32	27907										
PCDH15	65217	genome.wustl.edu	37	chr10	55568613	55568613	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttctgattcctcctcactttCcacacctccttccaccgaag	3	18	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:55568613C>A	ENST00000395445.1	-	36	5591	c.5197G>T	c.(5197-5199)Gaa>Taa	p.E1733*	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E667*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.E598*|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E929*|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCACTTTCCACACCTCCT	0.507										HNSCC(58;0.16)																																							0													145	117	126					10																	55568613		1568	3582	5150	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5197G>T	10.37:g.55568613C>A	ENSP00000378832:p.Glu1733*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1733*	ENST00000395445.1	37	c.5197		10	.	.	.	.	.	.	.	.	.	.	C	41	9.019789	0.99038	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.5125	0.84289	0.0:1.0:0.0:0.0	.	.	.	.	X	1733;929;598;667	.	ENSP00000378827:E667X	E	-	1	0	PCDH15	55238619	0.001000	0.12720	0.256000	0.24389	0.884000	0.51177	1.409000	0.34680	2.494000	0.84150	0.563000	0.77884	GAA	PCDH15	-	NULL		0.507	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	C	NM_033056		55568613	-1	no_errors	ENST00000395445	ensembl	human	novel	70_37	nonsense	SNP	0.161	A	A	55568613	C	A	55568613	4	1	156	1	0	0	0	0	0	1	0	0	11535	864	30	3	719	3	PCDH15	10	55568613	Nonsense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	9769288	55568613	79966134	33	27908										
PTEN	5728	genome.wustl.edu	37	chr10	89690847	89690847	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cgccaaatttaattgcagagGtaggtatgaatgtactgtac	10	6	0	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:89690847G>T	ENST00000371953.3	+	4	1610		c.e4+1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(15)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATTGCAGAGGTAGGTATGAA	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	63	Whole gene deletion(37)|Unknown(15)|Deletion - Frameshift(10)|Deletion - In frame(1)	prostate(17)|central_nervous_system(15)|lung(6)|breast(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CS971885	PTEN	S							83	76	78					10																	89690847		2202	4295	6497	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.253+1G>T	10.37:g.89690847G>T			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e4+1	ENST00000371953.3	37	c.253+1	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512472	0.85389	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89680827	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	.	PTEN	-	-		0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314	Intron	89690847	1	no_errors	ENST00000371953	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	89690847	G	T	89690847	5	4	156	1	0	0	0	0	0	0	1	0	12765	1275	44	4	268	4	PTEN	10	89690847	Splice_Site	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	34122234	89690847	45843900	34	27909										
ZNF518A	9849	genome.wustl.edu	37	chr10	97918540	97918540	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	accagtcatttcaaaaacacGagagagaaggcaaaattgtt	8	7	2	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:97918540G>A	ENST00000534948.1	+	0	3318							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCAAAAACACGAGAGAGAAGG	0.388																																																	0													60	59	60					10																	97918540		1860	4095	5955			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918540G>A			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.388	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		G	NM_014803		97918540	1	no_errors	ENST00000316045	ensembl	human	known	70_37	rna	SNP	0.009	A	A	97918540	G	A	97918540	1	1	156	0	1	0	0	0	0	0	0	0	17992	1059	37	1		1	ZNF518A	10	97918540	RNA	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	8227693	97918540	37616207	35	27910										
RASGRP2	10235	genome.wustl.edu	37	chr11	64496388	64496388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gcagagagaagctgaaggcgCggtgatggtggctgtgcatg	19	6	0	4	rs202192382		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:64496388C>T	ENST00000354024.3	-	15	1970	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	RASGRP2_ENST00000394432.3_Missense_Mutation_p.R573H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.R573H|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R573H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	573					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAAGGCGCGGTGATGGTG	0.642																																																	0													67	56	60					11																	64496388		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1718G>A	11.37:g.64496388C>T	ENSP00000338864:p.Arg573His		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R573H	ENST00000354024.3	37	c.1718	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014896	0.54468	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.72725	-0.68;-0.65;-0.65;-0.65	4.44	4.44	0.53790	.	0.555105	0.18052	N	0.153243	T	0.57388	0.2050	L	0.29908	0.895	0.80722	D	1	B;B	0.29432	0.244;0.244	B;B	0.18561	0.022;0.022	T	0.59705	-0.7404	10	0.51188	T	0.08	-0.7121	13.2952	0.60292	0.0:1.0:0.0:0.0	.	573;573	Q7LDG7;A6NDC7	GRP2_HUMAN;.	H	573	ENSP00000366714:R573H;ENSP00000377953:R573H;ENSP00000366717:R573H;ENSP00000338864:R573H	ENSP00000338864:R573H	R	-	2	0	RASGRP2	64252964	0.885000	0.30320	0.671000	0.29857	0.931000	0.56810	2.524000	0.45589	2.398000	0.81561	0.650000	0.86243	CGC	RASGRP2	-	NULL		0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	C	NM_153819		64496388	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	0.883	T	T	64496388	C	T	64496388	3	4	156	1	0	0	0	0	1	0	0	0	13105	768	27	2	119	2	RASGRP2	11	64496388	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		64496388	70510128	36	27911										
LRP5	4041	genome.wustl.edu	37	chr11	68207255	68207255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tccctgccaggcatcgcatgCggaaagtccatgatgagctc	11	13	0	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:68207255C>T	ENST00000294304.7	+	21	4465	c.4359C>T	c.(4357-4359)tgC>tgT	p.C1453C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1453					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATCGCATGCGGAAAGTCCA	0.672																																																	0													20	20	20					11																	68207255		2200	4293	6493	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4359C>T	11.37:g.68207255C>T			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C1453	ENST00000294304.7	37	c.4359	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.672	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	C	NM_002335		68207255	1	no_errors	ENST00000294304	ensembl	human	known	70_37	silent	SNP	0.121	T	T	68207255	C	T	68207255	2	4	156	1	0	0	0	0	0	0	0	1	8983	776	27	2		2	LRP5	11	68207255	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	3710867	68207255	66799261	37	27912										
CCND1	595	genome.wustl.edu	37	chr11	69466021	69466021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aggtggacctggcttgcacaCccaccgacgtgcgggacgtg	15	13	0	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:69466021C>A	ENST00000227507.2	+	5	1086	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P287S(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GGCTTGCACACCCACCGACGT	0.716			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)			Dom	yes		11	11q13	595	cyclin D1		"L, E"	2	Substitution - Missense(2)	endometrium(2)											24	19	21					11																	69466021		2199	4292	6491	SO:0001583	missense	595			Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.859C>A	11.37:g.69466021C>A	ENSP00000227507:p.Pro287Thr		Q6LEF0	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.P287T	ENST00000227507.2	37	c.859	CCDS8191.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.366249	0.95900	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.17691	2.26	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57556	-0.7791	10	0.87932	D	0	.	19.5807	0.95467	0.0:1.0:0.0:0.0	.	287	P24385	CCND1_HUMAN	T	287;153	ENSP00000227507:P287T	ENSP00000227507:P287T	P	+	1	0	CCND1	69175202	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.101000	0.76997	2.623000	0.88846	0.655000	0.94253	CCC	CCND1	-	NULL		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND1	HGNC	protein_coding	OTTHUMT00000396775.2	C	NM_053056		69466021	1	no_errors	ENST00000227507	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69466021	C	A	69466021	3	1	156	1	0	0	0	0	1	0	0	0	2921	507	18	4	877	4	CCND1	11	69466021	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	1258766	69466021	65540495	38	27913										
ODZ4	26011	genome.wustl.edu	37	chr11	78601032	78601032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ggtgatgtggtgcagaagagCggggaggtgcctccaggctt	19	7	0	3			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:78601032C>T	ENST00000278550.7	-	9	1344	c.882G>A	c.(880-882)ccG>ccA	p.P294P		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	294	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGCAGAAGAGCGGGGAGGTGC	0.657																																																	0													114	123	121					11																	78601032		692	1591	2283	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.882G>A	11.37:g.78601032C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P294	ENST00000278550.7	37	c.882	CCDS44688.1	11																																																																																			TENM4	-	pfam_Ten_N		0.657	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78601032	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	0.004	T	T	78601032	C	T	78601032	2	4	156	1	0	0	0	0	0	0	0	1	10861	755	27	2		2	ODZ4	11	78601032	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	9135011	78601032	56405484	39	27914										
KCNA6	3742	genome.wustl.edu	37	chr12	4919236	4919236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ggagaaatcccttacgctggCggcgccgggggaggtccgtg	18	11	0	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:4919236C>T	ENST00000280684.3	+	1	895	c.29C>T	c.(28-30)gCg>gTg	p.A10V	KCNA6_ENST00000433855.1_Missense_Mutation_p.A10V|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	10					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTTACGCTGGCGGCGCCGGGG	0.716										HNSCC(72;0.22)																																							0													11	17	15					12																	4919236		2101	4154	6255	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.29C>T	12.37:g.4919236C>T	ENSP00000280684:p.Ala10Val			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A10V	ENST00000280684.3	37	c.29	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423377	0.43020	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97529	-4.42;-4.42	4.46	3.54	0.40534	.	0.315298	0.28307	N	0.015829	D	0.91472	0.7308	N	0.19112	0.55	0.37526	D	0.917733	B	0.06786	0.001	B	0.04013	0.001	D	0.86825	0.2007	10	0.30854	T	0.27	.	6.9284	0.24428	0.0:0.7254:0.1797:0.095	.	10	P17658	KCNA6_HUMAN	V	10	ENSP00000408321:A10V;ENSP00000280684:A10V	ENSP00000280684:A10V	A	+	2	0	KCNA6	4789497	0.777000	0.28628	1.000000	0.80357	0.994000	0.84299	0.216000	0.17585	1.037000	0.40024	0.462000	0.41574	GCG	KCNA6	-	prints_K_chnl_volt-dep_Kv1.6		0.716	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	C	NM_002235		4919236	1	no_errors	ENST00000280684	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4919236	C	T	4919236	3	4	156	1	0	0	0	0	1	0	0	0	8027	768	27	2	31	2	KCNA6	12	4919236	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		4919236	128932659	40	27915										
CD163	9332	genome.wustl.edu	37	chr12	7640635	7640635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	caccatgcttcacttcaacaCgtccagaacagggaatgtcc	7	14	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:7640635C>T	ENST00000359156.4	-	7	1671	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	CD163_ENST00000541972.1_Missense_Mutation_p.R478H|CD163_ENST00000432237.2_Missense_Mutation_p.R490H|CD163_ENST00000396620.3_Missense_Mutation_p.R490H|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	490	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R490H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACTTCAACACGTCCAGAACA	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											61	52	55					12																	7640635		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1469G>A	12.37:g.7640635C>T	ENSP00000352071:p.Arg490His		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R490H	ENST00000359156.4	37	c.1469	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967874	0.92855	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.283835	0.30302	N	0.009934	T	0.64516	0.2605	M	0.82433	2.59	0.49687	D	0.999815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.993	T	0.69250	-0.5194	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	490;490;490	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	490;478;490;490	ENSP00000352071:R490H;ENSP00000444071:R478H;ENSP00000379863:R490H;ENSP00000403885:R490H	ENSP00000352071:R490H	R	-	2	0	CD163	7531902	0.616000	0.27035	1.000000	0.80357	0.979000	0.70002	3.317000	0.51968	2.663000	0.90544	0.655000	0.94253	CGT	CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416		7640635	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7640635	C	T	7640635	3	4	156	1	0	0	0	0	1	0	0	0	2972	536	19	2	2041	2	CD163	12	7640635	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	2721399	7640635	126211260	41	27916										
RERGL	79785	genome.wustl.edu	37	chr12	18234322	18234322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gcatcggttttccagtgccaGcttttgcccttcttcccagc	8	15	1	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:18234322G>T	ENST00000229002.2	-	6	627	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.L140M|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	141	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCAGTGCCAGCTTTTGCCCT	0.458																																																	0													107	98	101					12																	18234322		2203	4300	6503	SO:0001583	missense	79785			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.421C>A	12.37:g.18234322G>T	ENSP00000229002:p.Leu141Met			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.L141M	ENST00000229002.2	37	c.421	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518537	0.64634	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79141	-1.24;-1.24	4.74	3.84	0.44239	.	0.000000	0.64402	D	0.000001	D	0.86289	0.5897	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.85906	0.1437	10	0.49607	T	0.09	.	9.3994	0.38424	0.1698:0.0:0.8302:0.0	.	140;141	F5H686;Q9H628	.;RERGL_HUMAN	M	141;140	ENSP00000229002:L141M;ENSP00000437814:L140M	ENSP00000229002:L141M	L	-	1	2	RERGL	18125589	0.952000	0.32445	0.981000	0.43875	0.941000	0.58515	1.267000	0.33050	1.299000	0.44798	0.558000	0.71614	CTG	RERGL	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.458	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	HGNC	protein_coding	OTTHUMT00000401198.1	G	NM_024730		18234322	-1	no_errors	ENST00000229002	ensembl	human	known	70_37	missense	SNP	0.996	T	T	18234322	G	T	18234322	3	4	156	1	0	0	0	0	1	0	0	0	13263	962	34	4	200	4	RERGL	12	18234322	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	10593687	18234322	115617573	42	27917										
GYS2	2998	genome.wustl.edu	37	chr12	21711236	21711236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ttgtgcgtggtcactgggggCaatgactgtcgctgaagtat	15	7	1	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:21711236C>A	ENST00000261195.2	-	11	1574	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	440					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACTGGGGGCAATGACTGTC	0.443																																					Colon(149;9 1820 3690 10544 50424)												0													178	146	157					12																	21711236		2203	4300	6503	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1320G>T	12.37:g.21711236C>A	ENSP00000261195:p.Leu440Phe		A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.L440F	ENST00000261195.2	37	c.1320	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726277	0.48833	.	.	ENSG00000111713	ENST00000261195	T	0.71222	-0.55	4.45	2.61	0.31194	.	0.000000	0.64402	D	0.000002	T	0.65069	0.2656	M	0.66939	2.045	0.54753	D	0.999989	B	0.17465	0.022	B	0.25405	0.06	T	0.60596	-0.7232	10	0.49607	T	0.09	-18.1353	6.3546	0.21395	0.0:0.5698:0.2686:0.1616	.	440	P54840	GYS2_HUMAN	F	440	ENSP00000261195:L440F	ENSP00000261195:L440F	L	-	3	2	GYS2	21602503	0.989000	0.36119	0.991000	0.47740	0.998000	0.95712	0.198000	0.17217	0.613000	0.30089	0.655000	0.94253	TTG	GYS2	-	pfam_Glycogen_synth		0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	C	NM_021957		21711236	-1	no_errors	ENST00000261195	ensembl	human	known	70_37	missense	SNP	0.901	A	A	21711236	C	A	21711236	3	1	156	1	0	0	0	0	1	0	0	0	6933	709	25	4	815	4	GYS2	12	21711236	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	3476914	21711236	112140659	43	27918										
KRAS	3845	genome.wustl.edu	37	chr12	25398257	25398257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aatgattctgaattagctgtAtcgtcaaggcactcttgcct	8	9	3	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:25398257A>C	ENST00000256078.4	-	2	125	c.62T>G	c.(61-63)aTa>aGa	p.I21R	KRAS_ENST00000556131.1_Missense_Mutation_p.I21R|KRAS_ENST00000311936.3_Missense_Mutation_p.I21R|KRAS_ENST00000557334.1_Missense_Mutation_p.I21R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	21					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			AATTAGCTGTATCGTCAAGGC	0.363		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	0													89	77	81					12																	25398257		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.62T>G	12.37:g.25398257A>C	ENSP00000256078:p.Ile21Arg		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I21R	ENST00000256078.4	37	c.62	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557632	0.86231	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79352	-1.26;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83857	0.5345	L	0.43554	1.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.974;0.989	D	0.85559	0.1226	10	0.87932	D	0	.	14.768	0.69654	1.0:0.0:0.0:0.0	.	21;21	P01116-2;P01116	.;RASK_HUMAN	R	21	ENSP00000308495:I21R;ENSP00000452512:I21R;ENSP00000256078:I21R;ENSP00000451856:I21R	ENSP00000256078:I21R	I	-	2	0	KRAS	25289524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.247000	0.95444	2.155000	0.67459	0.460000	0.39030	ATA	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.363	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	A	NM_033360		25398257	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25398257	A	C	25398257	3	2	156	1	0	0	0	0	1	0	0	0	8458	449	16	5	644	5	KRAS	12	25398257	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	3687021	25398257	108453638	44	27919										
GNPTAB	79158	genome.wustl.edu	37	chr12	102179808	102179808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	accatccttagtactgtcaaAaacaacaactgagacattgg	6	10	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:102179808A>G	ENST00000299314.7	-	5	815	c.553T>C	c.(553-555)Ttt>Ctt	p.F185L	GNPTAB_ENST00000549940.1_Missense_Mutation_p.F185L	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	185					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTACTGTCAAAAACAACAACT	0.328																																																	0													72	72	72					12																	102179808		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.553T>C	12.37:g.102179808A>G	ENSP00000299314:p.Phe185Leu		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.F185L	ENST00000299314.7	37	c.553	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902347	0.72754	.	.	ENSG00000111670	ENST00000299314;ENST00000549940;ENST00000552681	D;D;T	0.97994	-4.53;-4.65;-1.38	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	L	0.52364	1.645	0.80722	D	1	B;P	0.49783	0.226;0.928	B;B	0.41666	0.192;0.363	D	0.96347	0.9255	10	0.87932	D	0	-17.5224	14.9653	0.71188	1.0:0.0:0.0:0.0	.	185;185	Q3T906-2;Q3T906	.;GNPTA_HUMAN	L	185;185;63	ENSP00000299314:F185L;ENSP00000449150:F185L;ENSP00000449217:F63L	ENSP00000299314:F185L	F	-	1	0	GNPTAB	100703939	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.798000	0.91888	2.326000	0.78906	0.533000	0.62120	TTT	GNPTAB	-	NULL		0.328	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	A			102179808	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102179808	A	G	102179808	3	3	156	1	0	0	0	0	1	0	0	0	6564	14	1	5	3285	5	GNPTAB	12	102179808	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	76781551	102179808	31672087	45	27920										
MTMR10	54893	genome.wustl.edu	37	chr15	31239429	31239429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aacactgccaggtaggtttcGgagaactcaaaagctgcagg	12	9	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr15:31239429G>T	ENST00000435680.1	-	14	1549	c.1452C>A	c.(1450-1452)tcC>tcA	p.S484S	MTMR10_ENST00000314404.8_Silent_p.S236S|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.S402S	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	484	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGTAGGTTTCGGAGAACTCAA	0.478																																																	0													140	140	140					15																	31239429		1897	4140	6037	SO:0001819	synonymous_variant	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1452C>A	15.37:g.31239429G>T			Q6P4Q6	Silent	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.S484	ENST00000435680.1	37	c.1452	CCDS45204.1	15																																																																																			MTMR10	-	NULL		0.478	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1	G	NM_017762		31239429	-1	no_errors	ENST00000435680	ensembl	human	known	70_37	silent	SNP	0.000	T	T	31239429	G	T	31239429	2	4	156	1	0	0	0	0	0	0	0	1	9962	1103	39	2		2	MTMR10	15	31239429	Silent	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		31239429	71291963	46	27921										
CCDC78	124093	genome.wustl.edu	37	chr16	775082	775082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tgagatggccactcacacacGcgtcaccagtgcctgctgcc	10	16	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:775082G>A	ENST00000293889.6	-	6	661	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	186					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				ACTCACACACGCGTCACCAGT	0.662																																																	0													61	62	61					16																	775082		2199	4299	6498	SO:0001583	missense	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.556C>T	16.37:g.775082G>A	ENSP00000293889:p.Arg186Cys		B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	NULL	p.R186C	ENST00000293889.6	37	c.556	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817607	0.32145	.	.	ENSG00000162004	ENST00000293889	T	0.30182	1.54	4.59	2.56	0.30785	.	0.799419	0.10915	N	0.620125	T	0.20373	0.0490	N	0.25647	0.755	0.09310	N	1	B;B	0.17465	0.006;0.022	B;B	0.14578	0.007;0.011	T	0.21211	-1.0252	10	0.49607	T	0.09	.	5.9199	0.19076	0.0929:0.0:0.5717:0.3354	.	186;35	A2IDD5;D3DU61	CCD78_HUMAN;.	C	186	ENSP00000293889:R186C	ENSP00000293889:R186C	R	-	1	0	CCDC78	715083	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.848000	0.27710	0.612000	0.30071	0.561000	0.74099	CGT	CCDC78	-	NULL		0.662	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	G	NM_173476		775082	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	missense	SNP	0.000	A	A	775082	G	A	775082	3	1	156	1	0	0	0	0	1	0	0	0	2857	1087	38	2	796	2	CCDC78	16	775082	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		775082	89579671	47	27922										
TPSAB1	7177	genome.wustl.edu	37	chr16	1291685	1291685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	gctgggtcactggctggggcGatgtggacaatgatggtggg	20	6	1	1	rs143210825	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:1291685G>A	ENST00000338844.3	+	4	517	c.484G>A	c.(484-486)Gat>Aat	p.D162N	TPSAB1_ENST00000461509.2_Missense_Mutation_p.D169N	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	162	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in dbSNP:rs2234641). {ECO:0000269|PubMed:10898108}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGGCTGGGGCGATGTGGACAA	0.687													G|||	130	0.0259585	0.0023	0.0303	5008	,	,		17062	0		0.0527	False		,,,				2504	0.0542																0								G	ASN/ASP	47,4345		0,47,2149	18	16	17		484	-2.7	0	16	dbSNP_134	17	485,8089		0,485,3802	no	missense	TPSAB1	NM_003294.3	23	0,532,5951	AA,AG,GG		5.6566,1.0701,4.103	benign	162/276	1291685	532,12434	2196	4287	6483	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.484G>A	16.37:g.1291685G>A	ENSP00000343577:p.Asp162Asn		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D162N	ENST00000338844.3	37	c.484	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	G	1.910	-0.450958	0.04572	0.010701	0.056566	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.87571	-2.27;-2.27	3.21	-2.67	0.06059	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.403267	0.20801	N	0.085431	T	0.20170	0.0485	N	0.13098	0.295	0.09310	N	1	B;B	0.31503	0.326;0.203	B;B	0.24848	0.033;0.056	T	0.51044	-0.8755	10	0.09084	T	0.74	.	8.8642	0.35276	0.7271:0.0:0.2729:0.0	.	153;162	Q15661-2;Q15661	.;TRYB1_HUMAN	N	162;169	ENSP00000343577:D162N;ENSP00000418247:D169N	ENSP00000343577:D162N	D	+	1	0	TPSAB1	1231686	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.998000	0.03701	-0.398000	0.07679	0.479000	0.44913	GAT	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.687	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	G	NM_003294		1291685	1	no_errors	ENST00000562675	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1291685	G	A	1291685	3	1	156	1	0	0	0	0	1	0	0	0	16454	1058	37	1	494	1	TPSAB1	16	1291685	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	516603	1291685	89063068	48	27923										
MEFV	4210	genome.wustl.edu	37	chr16	3297128	3297128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	catatgccttcctgatctgcCcaaccatctggcccacgtcc	6	18	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:3297128C>T	ENST00000219596.1	-	5	1514	c.1475G>A	c.(1474-1476)gGg>gAg	p.G492E	MEFV_ENST00000339854.4_Missense_Mutation_p.G312E|MEFV_ENST00000541159.1_Missense_Mutation_p.G281E|MEFV_ENST00000536379.1_Missense_Mutation_p.G281E	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	492	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCTGATCTGCCCAACCATCTG	0.582																																																	0													198	173	182					16																	3297128		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1475G>A	16.37:g.3297128C>T	ENSP00000219596:p.Gly492Glu		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G492E	ENST00000219596.1	37	c.1475	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674236	0.14841	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.61742	0.08;0.51;0.4;0.53	5.29	0.82	0.18793	.	1.148260	0.06368	N	0.713021	T	0.58395	0.2119	L	0.55481	1.735	0.09310	N	1	D	0.60575	0.988	P	0.53313	0.723	T	0.45205	-0.9277	10	0.30854	T	0.27	-3.329	3.1969	0.06636	0.3405:0.3909:0.0:0.2686	.	492	O15553	MEFV_HUMAN	E	492;492;312;281;281;281	ENSP00000219596:G492E;ENSP00000339639:G312E;ENSP00000438711:G281E;ENSP00000445079:G281E	ENSP00000219596:G492E	G	-	2	0	MEFV	3237129	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.198000	0.03035	0.370000	0.24538	0.655000	0.94253	GGG	MEFV	-	NULL		0.582	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	C	NM_000243		3297128	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.000	T	T	3297128	C	T	3297128	3	4	156	1	0	0	0	0	1	0	0	0	9482	623	22	4	894	4	MEFV	16	3297128	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	2005443	3297128	87057625	49	27924										
SF3B3	23450	genome.wustl.edu	37	chr16	70597901	70597901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tattatcattgaaacggaccAcaatgcctacactgaggcca	7	11	1	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:70597901A>G	ENST00000302516.5	+	18	2622	c.2411A>G	c.(2410-2412)cAc>cGc	p.H804R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	804					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAAACGGACCACAATGCCTAC	0.448																																																	0													147	127	134					16																	70597901		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2411A>G	16.37:g.70597901A>G	ENSP00000305790:p.His804Arg		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.H804R	ENST00000302516.5	37	c.2411	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801763	0.90538	.	.	ENSG00000189091	ENST00000302516	T	0.15952	2.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.88570	2.965	0.80722	D	1	B	0.24823	0.112	B	0.24701	0.055	T	0.15206	-1.0445	10	0.16896	T	0.51	-0.0127	15.6284	0.76882	1.0:0.0:0.0:0.0	.	804	Q15393	SF3B3_HUMAN	R	804	ENSP00000305790:H804R	ENSP00000305790:H804R	H	+	2	0	SF3B3	69155402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.155000	0.67459	0.533000	0.62120	CAC	SF3B3	-	superfamily_WD40_repeat_dom		0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	A	NM_012426		70597901	1	no_errors	ENST00000302516	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70597901	A	G	70597901	3	3	156	1	0	0	0	0	1	0	0	0	14182	159	6	5	2477	5	SF3B3	16	70597901	Missense_Mutation	SNP	A	TCGA-JW-A5VH-01A-11D-A28B-09	67300773	70597901	19756852	50	27925										
DNAH2	146754	genome.wustl.edu	37	chr17	7701562	7701562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cggacgccagagtctggcccGcctggcttcatccatctgcg	12	16	3	1	rs374110523		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr17:7701562G>A	ENST00000572933.1	+	54	9778	c.8318G>A	c.(8317-8319)cGc>cAc	p.R2773H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2773H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2773	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTCTGGCCCGCCTGGCTTCA	0.602																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	52	51	51		8318	4.6	1	17		51	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2773/4428	7701562	1,13005	2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8318G>A	17.37:g.7701562G>A	ENSP00000458355:p.Arg2773His		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R2773H	ENST00000572933.1	37	c.8318	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	g	17.66	3.445691	0.63178	2.27E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57273	0.41	5.6	4.64	0.57946	Dynein heavy chain, P-loop containing D4 domain (1);	0.216352	0.39475	N	0.001355	T	0.78233	0.4251	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84213	0.0457	10	0.87932	D	0	.	15.6512	0.77095	0.0:0.138:0.862:0.0	.	2773	Q9P225	DYH2_HUMAN	H	2773	ENSP00000373825:R2773H	ENSP00000353818:R2773H	R	+	2	0	DNAH2	7642287	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	4.856000	0.62932	1.384000	0.46424	-0.371000	0.07208	CGC	DNAH2	-	NULL		0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7701562	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.999	A	A	7701562	G	A	7701562	3	1	156	1	0	0	0	0	1	0	0	0	4612	1087	38	2	8528	2	DNAH2	17	7701562	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		7701562	73493648	51	27926										
SPOP	8405	genome.wustl.edu	37	chr17	47696599	47696599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aagaggagaacatttacccaTagctttggtttcttctccct	7	10	2	2			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr17:47696599T>C	ENST00000393328.2	-	5	714	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000393331.3_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	117	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.M117V(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTACCCATAGCTTTGGTT	0.413										Prostate(2;0.17)																																							2	Substitution - Missense(2)	endometrium(2)											148	136	140					17																	47696599		2203	4300	6503	SO:0001583	missense	8405			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.349A>G	17.37:g.47696599T>C	ENSP00000377001:p.Met117Val		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.M117V	ENST00000393328.2	37	c.349	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696398	0.30142	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.54675	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;0.56	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.036122	0.85682	D	0.000000	T	0.35008	0.0917	N	0.16478	0.41	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.20075	-1.0286	10	0.07482	T	0.82	.	15.4649	0.75390	0.0:0.0:0.0:1.0	.	117	O43791	SPOP_HUMAN	V	117;117;117;117;1;117;70;117;117;117;117;117	ENSP00000377001:M117V;ENSP00000377004:M117V;ENSP00000240327:M117V;ENSP00000425905:M117V;ENSP00000420908:M117V;ENSP00000426986:M117V;ENSP00000420960:M117V;ENSP00000426262:M117V;ENSP00000424119:M117V;ENSP00000426537:M117V	ENSP00000240327:M117V	M	-	1	0	SPOP	45051598	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.787000	0.85759	2.317000	0.78254	0.460000	0.39030	ATG	SPOP	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	T	NM_003563		47696599	-1	no_errors	ENST00000347630	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47696599	T	C	47696599	3	2	156	1	0	0	0	0	1	0	0	0	15114	1406	49	5	803	5	SPOP	17	47696599	Missense_Mutation	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09	39995037	47696599	33498611	52	27927										
ELP2	55250	genome.wustl.edu	37	chr18	33713236	33713236	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	accaacttgaatggtcacacCgcccgagtcaattgcataca	7	13	2	1	rs150889303		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr18:33713236C>A	ENST00000358232.6	+	2	237	c.174C>A	c.(172-174)acC>acA	p.T58T	ELP2_ENST00000350494.6_Silent_p.T58T|ELP2_ENST00000351393.6_Silent_p.T58T|ELP2_ENST00000423854.2_Silent_p.T58T|ELP2_ENST00000542824.1_Silent_p.T58T|ELP2_ENST00000442325.2_Silent_p.T58T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	58					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATGGTCACACCGCCCGAGTCA	0.318																																																	0													104	100	102					18																	33713236		2203	4300	6503	SO:0001819	synonymous_variant	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.174C>A	18.37:g.33713236C>A			A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T58	ENST00000358232.6	37	c.174	CCDS11918.1	18																																																																																			ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.318	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	C	NM_018255		33713236	1	no_errors	ENST00000358232	ensembl	human	known	70_37	silent	SNP	0.999	A	A	33713236	C	A	33713236	2	1	156	1	0	0	0	0	0	0	0	1	5092	639	23	2		2	ELP2	18	33713236	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		33713236	44364012	53	27928										
ATP8B3	148229	genome.wustl.edu	37	chr19	1807256	1807256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ccagggcagcgtggagatgtCgggaatgctctgacgtgagg	18	8	1	3			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:1807256C>T	ENST00000310127.6	-	6	764	c.526G>A	c.(526-528)Gac>Aac	p.D176N	ATP8B3_ENST00000526092.2_Missense_Mutation_p.D123N|ATP8B3_ENST00000539485.1_Missense_Mutation_p.D176N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.D123N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	176					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGAGATGTCGGGAATGCTC	0.647																																																	0													129	155	146					19																	1807256		2199	4284	6483	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.526G>A	19.37:g.1807256C>T	ENSP00000311336:p.Asp176Asn		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D176N	ENST00000310127.6	37	c.526	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	t	9.174	1.021953	0.19433	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	3.87	2.82	0.32997	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.390087	0.25238	N	0.032111	T	0.81375	0.4809	N	0.13327	0.33	0.09310	N	1	D;P;P	0.63046	0.992;0.659;0.59	P;B;B	0.46510	0.519;0.076;0.072	T	0.74306	-0.3708	10	0.62326	D	0.03	.	10.6899	0.45864	0.0:0.9034:0.0:0.0966	.	123;176;123	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	N	176;176;123;123;123	ENSP00000311336:D176N;ENSP00000443574:D176N;ENSP00000437115:D123N;ENSP00000445204:D123N	ENSP00000311336:D176N	D	-	1	0	ATP8B3	1758256	0.044000	0.20184	0.437000	0.26809	0.057000	0.15508	2.461000	0.45040	0.607000	0.29982	-0.232000	0.12228	GAC	ATP8B3	-	tigrfam_ATPase_P-typ_Plipid-transl		0.647	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	C	NM_138813		1807256	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	missense	SNP	0.087	T	T	1807256	C	T	1807256	3	4	156	1	0	0	0	0	1	0	0	0	1197	884	31	1	3520	1	ATP8B3	19	1807256	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09		1807256	57321727	54	27929										
GTF2F1	2962	genome.wustl.edu	37	chr19	6380388	6380388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aacacgttcactgtctgctcGctgctcagccctgtcttctt	7	15	5	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:6380388G>A	ENST00000394456.5	-	13	1922	c.1458C>T	c.(1456-1458)agC>agT	p.S486S	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Silent_p.S401S	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	486					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTGTCTGCTCGCTGCTCAGCC	0.557																																																	0													227	210	216					19																	6380388		2203	4300	6503	SO:0001819	synonymous_variant	2962				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1458C>T	19.37:g.6380388G>A			B2RCS0|Q9BWN0	Silent	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.S486	ENST00000394456.5	37	c.1458	CCDS12165.1	19																																																																																			GTF2F1	-	pfam_TFIIF-alpha		0.557	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	G	NM_002096		6380388	-1	no_errors	ENST00000394456	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6380388	G	A	6380388	2	1	156	1	0	0	0	0	0	0	0	1	6878	1078	38	2		2	GTF2F1	19	6380388	Silent	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	4573132	6380388	52748595	55	27930										
DMRTC2	63946	genome.wustl.edu	37	chr19	42351694	42351694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ctctgcctcttccaggcttgCgagtgtcacaaatgtgtcct	9	13	3	0	rs369030903		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:42351694C>T	ENST00000269945.3	+	2	249	c.198C>T	c.(196-198)tgC>tgT	p.C66C	DMRTC2_ENST00000596827.1_Silent_p.C66C|LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000602098.1_3'UTR|LYPD4_ENST00000330743.3_5'Flank	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	66					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCCAGGCTTGCGAGTGTCACA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		21209	0		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	71	61	64		198	4.3	1	19	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	DMRTC2	NM_001040283.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		66/368	42351694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63946			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.198C>T	19.37:g.42351694C>T			Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.C66	ENST00000269945.3	37	c.198	CCDS33034.1	19																																																																																			DMRTC2	-	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd		0.607	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	HGNC	protein_coding	OTTHUMT00000463045.1	C	NM_001040283		42351694	1	no_errors	ENST00000269945	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42351694	C	T	42351694	2	4	156	1	0	0	0	0	0	0	0	1	4601	776	27	2		2	DMRTC2	19	42351694	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	35971306	42351694	16777289	56	27931										
PPFIA3	8541	genome.wustl.edu	37	chr19	49632647	49632647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cgatccccaggtccgggagcGgctgcggatggcgctggagc	18	13	0	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:49632647G>T	ENST00000334186.4	+	5	867	c.518G>T	c.(517-519)cGg>cTg	p.R173L	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R173L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	173					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTCCGGGAGCGGCTGCGGATG	0.617																																																	0													8	10	9					19																	49632647		2109	4154	6263	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.518G>T	19.37:g.49632647G>T	ENSP00000335614:p.Arg173Leu		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R173L	ENST00000334186.4	37	c.518	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.780312	0.96929	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.46819	0.86	4.56	4.56	0.56223	.	0.000000	0.45867	D	0.000330	T	0.71074	0.3297	M	0.83603	2.65	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.698;0.999	D;P;D	0.80764	0.994;0.482;0.988	T	0.76512	-0.2932	10	0.87932	D	0	-18.6904	16.6387	0.85066	0.0:0.0:1.0:0.0	.	97;173;173	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	L	173;97	ENSP00000335614:R173L	ENSP00000335614:R173L	R	+	2	0	PPFIA3	54324459	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.191000	0.94940	2.563000	0.86464	0.561000	0.74099	CGG	PPFIA3	-	NULL		0.617	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49632647	1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49632647	G	T	49632647	3	4	156	1	0	0	0	0	1	0	0	0	12335	1116	39	2	532	2	PPFIA3	19	49632647	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	7280953	49632647	9496336	57	27932										
C19orf51	352909	genome.wustl.edu	37	chr19	55672141	55672141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tgttgagtgatctccccggcCgtctaacagtagaaggggcg	14	10	2	3			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:55672141C>T	ENST00000524407.2	-	9	948	c.915G>A	c.(913-915)acG>acA	p.T305T	DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000455045.1_Silent_p.T251T|DNAAF3_ENST00000527223.2_Silent_p.T373T|DNAAF3_ENST00000391720.4_Silent_p.T352T|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	305					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TCTCCCCGGCCGTCTAACAGT	0.697																																																	0													23	25	24					19																	55672141		1901	4089	5990	SO:0001819	synonymous_variant	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.915G>A	19.37:g.55672141C>T			A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.T373	ENST00000524407.2	37	c.1119	CCDS59422.1	19																																																																																			DNAAF3	-	NULL		0.697	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	C	NM_178837		55672141	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	silent	SNP	0.002	T	T	55672141	C	T	55672141	2	4	156	1	0	0	0	0	0	0	0	1	1938	639	23	2		2	C19orf51	19	55672141	Silent	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	6039494	55672141	3456842	58	27933										
LIMK2	3985	genome.wustl.edu	37	chr22	31664175	31664175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tcaggtttgccaaaggaatcGcctccggaatggtgagtccc	12	11	1	1	rs138454239		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:31664175G>A	ENST00000331728.4	+	11	1420	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	LIMK2_ENST00000340552.4_Missense_Mutation_p.A415T|LIMK2_ENST00000406516.1_Missense_Mutation_p.A358T|LIMK2_ENST00000444929.2_Missense_Mutation_p.A190T|LIMK2_ENST00000333611.4_Missense_Mutation_p.A415T	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAAAGGAATCGCCTCCGGAAT	0.567																																																	0								G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	90	83	85		1243,1306,1243	3.8	1	22	dbSNP_134	85	1,8599		0,1,4299	no	missense,missense,missense	LIMK2	NM_001031801.1,NM_005569.3,NM_016733.2	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	415/687,436/639,415/618	31664175	1,13005	2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1306G>A	22.37:g.31664175G>A	ENSP00000332687:p.Ala436Thr		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A436T	ENST00000331728.4	37	c.1306	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	.	25.3	4.623426	0.87460	0.0	1.16E-4	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91180	-2.8;-2.56;-2.56;-2.56;-2.8	5.92	3.81	0.43845	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.204155	0.51477	D	0.000088	D	0.94938	0.8363	M	0.84773	2.715	0.48288	D	0.99962	D;D;D;D;B	0.89917	0.999;1.0;0.999;0.991;0.214	P;D;D;D;B	0.80764	0.9;0.994;0.957;0.933;0.04	D	0.94564	0.7765	10	0.87932	D	0	-18.8869	10.838	0.46698	0.068:0.0:0.8018:0.1302	.	468;415;190;436;358	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	T	358;190;436;468;415;415	ENSP00000384602:A358T;ENSP00000409522:A190T;ENSP00000332687:A436T;ENSP00000330470:A415T;ENSP00000339916:A415T	ENSP00000332687:A436T	A	+	1	0	LIMK2	29994175	1.000000	0.71417	0.985000	0.45067	0.704000	0.40688	5.375000	0.66173	0.822000	0.34565	0.655000	0.94253	GCC	LIMK2	-	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,pfscan_Prot_kinase_cat_dom		0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	G	NM_016733		31664175	1	no_errors	ENST00000331728	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31664175	G	A	31664175	3	1	156	1	0	0	0	0	1	0	0	0	8822	1087	38	2	1405	2	LIMK2	22	31664175	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		31664175	19640391	59	27934										
FOXRED2	80020	genome.wustl.edu	37	chr22	36900295	36900295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	cttcttccaggaagaatttcGgggtgacatggaacttgcct	11	9	1	2	rs143739893		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:36900295G>A	ENST00000397224.4	-	4	992	c.899C>T	c.(898-900)cCg>cTg	p.P300L	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P300L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P300L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	300					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAGAATTTCGGGGTGACATG	0.567																																																	0								G	LEU/PRO,LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	111	85	94		899,899	4	0.6	22	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense	FOXRED2	NM_001102371.1,NM_024955.5	98,98	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	300/685,300/685	36900295	3,13003	2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.899C>T	22.37:g.36900295G>A	ENSP00000380401:p.Pro300Leu		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.P300L	ENST00000397224.4	37	c.899	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312360	0.05422	6.81E-4	0.0	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.11821	2.74;2.74;2.74	5.0	3.97	0.46021	.	0.238434	0.32640	N	0.005825	T	0.02012	0.0063	N	0.00099	-2.14	0.28446	N	0.916554	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	10	0.02654	T	1	-10.7568	6.2563	0.20876	0.7843:0.0:0.0754:0.1403	.	300	Q8IWF2	FXRD2_HUMAN	L	300	ENSP00000380401:P300L;ENSP00000216187:P300L;ENSP00000380400:P300L	ENSP00000216187:P300L	P	-	2	0	FOXRED2	35230241	0.998000	0.40836	0.640000	0.29408	0.710000	0.40934	4.063000	0.57499	0.923000	0.37045	-0.295000	0.09555	CCG	FOXRED2	-	NULL		0.567	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	G	NM_024955		36900295	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	0.805	A	A	36900295	G	A	36900295	3	1	156	1	0	0	0	0	1	0	0	0	6052	1116	39	2	1179	2	FOXRED2	22	36900295	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	5236120	36900295	14404271	60	27935										
SGSM3	27352	genome.wustl.edu	37	chr22	40800404	40800404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	tgccgtctccctaccccgctCtgagaagctccgctccctgg	9	19	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:40800404C>T	ENST00000248929.9	+	5	500	c.311C>T	c.(310-312)tCt>tTt	p.S104F	SGSM3_ENST00000454798.2_Missense_Mutation_p.S37F	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTACCCCGCTCTGAGAAGCTC	0.642																																																	0													56	47	50					22																	40800404		2203	4300	6503	SO:0001583	missense	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.311C>T	22.37:g.40800404C>T	ENSP00000248929:p.Ser104Phe			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.S104F	ENST00000248929.9	37	c.311	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.167601	0.94768	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.04502	3.61;3.61;3.61	5.87	5.87	0.94306	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	M	0.70275	2.135	0.80722	D	1	P;P;D;P;P	0.53885	0.857;0.857;0.963;0.837;0.837	P;P;P;P;P	0.51550	0.59;0.655;0.673;0.655;0.655	T	0.00022	-1.2336	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	41;37;104;104;104	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	F	37;104;47;37	ENSP00000399249:S37F;ENSP00000248929:S104F;ENSP00000390998:S37F	ENSP00000248929:S104F	S	+	2	0	SGSM3	39130350	1.000000	0.71417	0.981000	0.43875	0.979000	0.70002	7.111000	0.77077	2.785000	0.95823	0.655000	0.94253	TCT	SGSM3	-	superfamily_Rab-GTPase-TBC_dom		0.642	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	C	NM_015705		40800404	1	no_errors	ENST00000248929	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40800404	C	T	40800404	3	4	156	1	0	0	0	0	1	0	0	0	14254	913	32	1	325	1	SGSM3	22	40800404	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	3900109	40800404	10504162	61	27936										
CCDC134	79879	genome.wustl.edu	37	chr22	42209804	42209805	+	Missense_Mutation	DNP	CA	CA	TT													0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	agactccaacttccagaaccCatttaaaatcgaccgcacag							TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:42209804_42209805CA>TT	ENST00000255784.5	+	6	646_647	c.542_543CA>TT	c.(541-543)cCA>cTT	p.P181L	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	181						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TTCCAGAACCCATTTAAAATCG	0.564																																																	0																																										SO:0001583	missense	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	Exception_encountered	22.37:g.42209804_42209805delinsTT	ENSP00000255784:p.Pro181Leu			Missense_Mutation|Silent	SNP	NULL	p.P181L|p.P181	ENST00000255784.5	37	c.542|c.543	CCDS33654.1	22																																																																																			CCDC134	-	NULL		0.564	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	HGNC	protein_coding	OTTHUMT00000321964.1	C|A	NM_024821		42209804|42209805	1	no_errors	ENST00000255784	ensembl	human	known	70_37	missense|silent	SNP	1.000|0.989	T	TT	42209805	CA	TT	42209804	3	4	156	1	0	0	0	0	1	0	0	0	2773	594	21	4	560	4	CCDC134	22	42209804	Missense_Mutation	DNP	CA	TCGA-JW-A5VH-01A-11D-A28B-09	1409400	42209804	9094762	62	27937										
PLXNB2	23654	genome.wustl.edu	37	chr22	50719367	50719367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ggggatgccggcctcgtgcaCgtcgttggtctggtcctcca	15	13	1	0	rs375409236		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:50719367C>T	ENST00000449103.1	-	24	3939	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.V1267M|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1267					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTCGTGCACGTCGTTGGTC	0.647																																																	0								C	MET/VAL	0,4334		0,0,2167	75	88	84		3799	4.4	1	22		84	1,8501		0,1,4250	no	missense	PLXNB2	NM_012401.3	21	0,1,6417	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	1267/1839	50719367	1,12835	2167	4251	6418	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3799G>A	22.37:g.50719367C>T	ENSP00000409171:p.Val1267Met		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1267M	ENST00000449103.1	37	c.3799	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259267	0.39995	0.0	1.18E-4	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03553	3.89;3.89	4.38	4.38	0.52667	.	0.248545	0.28042	N	0.016840	T	0.03220	0.0094	L	0.44542	1.39	0.42130	D	0.991467	P	0.38992	0.653	B	0.31337	0.128	T	0.49351	-0.8949	10	0.44086	T	0.13	.	6.3988	0.21626	0.0:0.6859:0.1686:0.1455	.	1267	O15031	PLXB2_HUMAN	M	1267	ENSP00000409171:V1267M;ENSP00000352288:V1267M	ENSP00000352288:V1267M	V	-	1	0	PLXNB2	49061494	0.072000	0.21174	0.993000	0.49108	0.626000	0.37791	0.237000	0.17985	2.270000	0.75569	0.561000	0.74099	GTG	PLXNB2	-	NULL		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719367	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.999	T	T	50719367	C	T	50719367	3	4	156	1	0	0	0	0	1	0	0	0	12148	536	19	2	1773	2	PLXNB2	22	50719367	Missense_Mutation	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	8509563	50719367	585199	63	27938										
NLGN4X	57502	genome.wustl.edu	37	chrX	5821413	5821413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	agccaccagggttttccgccGcgtctccgggttttccttat	10	14	1	0			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602																																																	0													18	20	20					X																	5821413		2199	4292	6491	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1306C>T	X.37:g.5821413G>A	ENSP00000370485:p.Arg436Trp		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R456W	ENST00000381095.3	37	c.1366	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958125	0.18507	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	3.93	3.05	0.35203	Carboxylesterase, type B (1);	.	.	.	.	T	0.71813	0.3384	M	0.70275	2.135	0.35192	D	0.773473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.998	T	0.76849	-0.2807	8	.	.	.	.	11.0511	0.47889	0.0:0.0:0.6677:0.3323	.	493;436;456	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	436;456;436;436;436	ENSP00000370485:R436W;ENSP00000370483:R456W;ENSP00000275857:R436W;ENSP00000370482:R436W;ENSP00000439203:R436W	.	R	-	1	2	NLGN4X	5831413	0.988000	0.35896	0.002000	0.10522	0.003000	0.03518	2.082000	0.41605	0.507000	0.28148	-0.222000	0.12452	CGG	NLGN4X	-	pfam_CarbesteraseB,prints_Neuroligin		0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821413	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	0.278	A	A	5821413	G	A	5821413	3	1	156	1	0	0	0	0	1	0	0	0	10488	1086	38	2	1152	2	NLGN4X	23	5821413	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09		5821413	149449147	64	27939										
POLA1	5422	genome.wustl.edu	37	chrX	24745188	24745188	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ggcttgaagtaaaaagtccaCgtaaggaaaaatacatgctc	9	7	0	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:24745188C>G	ENST00000379059.3	+	14	1528	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Splice_Site_p.Q511E	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	505				SPQL -> KSTA (in Ref. 1; CAA29920). {ECO:0000305}.	cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AAAAAGTCCACGTAAGGAAAA	0.348																																																	0													68	62	64					X																	24745188		2203	4300	6503	SO:0001630	splice_region_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1513+1C>G	X.37:g.24745188C>G			Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.Q511E	ENST00000379059.3	37	c.1531	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393062	0.42410	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.08984	3.03;3.03	5.25	5.25	0.73442	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.185965	0.49305	D	0.000143	T	0.14743	0.0356	M	0.76328	2.33	0.80722	D	1	B;B	0.15473	0.006;0.013	B;B	0.26770	0.025;0.073	T	0.09930	-1.0652	10	0.15952	T	0.53	-4.4586	17.9998	0.89195	0.0:1.0:0.0:0.0	.	511;505	A6NMQ1;P09884	.;DPOLA_HUMAN	E	511;505	ENSP00000368358:Q511E;ENSP00000368349:Q505E	ENSP00000368349:Q505E	Q	+	1	0	POLA1	24655109	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.258000	0.65479	2.441000	0.82636	0.600000	0.82982	CAG	POLA1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,tigrfam_DNA-dir_DNA_pol_B_pol2		0.348	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	C	NM_016937	Missense_Mutation	24745188	1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24745188	C	G	24745188	5	3	156	1	0	0	0	0	0	0	1	0	12211	550	19	2	1567	2	POLA1	23	24745188	Splice_Site	SNP	C	TCGA-JW-A5VH-01A-11D-A28B-09	18923775	24745188	130525372	65	27940										
TAB3	257397	genome.wustl.edu	37	chrX	30870896	30870896	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	atcctaacagatcacttaccGtagggatcgcagtggtgcag	11	10	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:30870896G>A	ENST00000378933.1	-	4	1886	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Splice_Site_p.T570M|TAB3_ENST00000378930.3_Splice_Site_p.T570M|TAB3_ENST00000378928.1_Splice_Site_p.T21M|TAB3_ENST00000378932.2_Splice_Site_p.T570M	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	570					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATCACTTACCGTAGGGATCGC	0.468																																					Pancreas(164;1598 1985 29022 43301 49529)												0													141	102	115					X																	30870896		2202	4300	6502	SO:0001630	splice_region_variant	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1710+1C>T	X.37:g.30870896G>A			A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.T570M	ENST00000378933.1	37	c.1709	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690186	0.68271	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.75	5.82	5.82	0.92795	.	0.096276	0.64402	D	0.000002	T	0.81597	0.4856	L	0.40543	1.245	0.47441	D	0.999424	P;D	0.89917	0.645;1.0	B;D	0.64410	0.324;0.925	T	0.83160	-0.0099	10	0.87932	D	0	-2.4628	19.0103	0.92870	0.0:0.0:1.0:0.0	.	570;570	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	M	570;570;570;570;21	ENSP00000368215:T570M;ENSP00000368212:T570M;ENSP00000288422:T570M;ENSP00000368214:T570M	ENSP00000288422:T570M	T	-	2	0	TAB3	30780817	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	5.805000	0.69143	2.438000	0.82558	0.506000	0.49869	ACG	TAB3	-	NULL		0.468	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787	Missense_Mutation	30870896	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	0.997	A	A	30870896	G	A	30870896	5	1	156	1	0	0	0	0	0	0	1	0	15527	1159	40	2	449	2	TAB3	23	30870896	Splice_Site	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	6125708	30870896	124399664	66	27941										
OTUD5	55593	genome.wustl.edu	37	chrX	48801543	48801543	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	ccttttcaaaccaatgctccTgctggagggaagaggtgggg	14	9	1	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:48801543T>C	ENST00000156084.4	-	2	656	c.596A>G	c.(595-597)cAg>cGg	p.Q199R	OTUD5_ENST00000376488.3_Splice_Site_p.Q199R|OTUD5_ENST00000428668.2_5'UTR|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000396743.3_Splice_Site_p.Q199R	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	199					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCAATGCTCCTGCTGGAGGGA	0.567																																																	0													60	44	49					X																	48801543		2203	4300	6503	SO:0001630	splice_region_variant	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.595-1A>G	X.37:g.48801543T>C			B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.Q199R	ENST00000156084.4	37	c.596	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614264	0.46631	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	D;T;D;D	0.84223	-1.81;1.05;-1.82;-1.81	5.87	5.87	0.94306	.	0.071170	0.56097	D	0.000026	T	0.75781	0.3896	L	0.35723	1.085	0.58432	D	0.999998	B;B	0.22346	0.068;0.027	B;B	0.20955	0.018;0.032	T	0.68712	-0.5336	10	0.05436	T	0.98	-2.4172	12.8342	0.57763	0.0:0.0:0.0:1.0	.	199;199	Q96G74;G5E9D7	OTUD5_HUMAN;.	R	199;175;72;199;199	ENSP00000379969:Q199R;ENSP00000390767:Q72R;ENSP00000156084:Q199R;ENSP00000365671:Q199R	ENSP00000156084:Q199R	Q	-	2	0	OTUD5	48686487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.437000	0.73421	2.088000	0.63022	0.486000	0.48141	CAG	OTUD5	-	NULL		0.567	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	T	NM_017602	Missense_Mutation	48801543	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48801543	T	C	48801543	5	2	156	1	0	0	0	0	0	0	1	0	11339	1594	55	5	1151	5	OTUD5	23	48801543	Splice_Site	SNP	T	TCGA-JW-A5VH-01A-11D-A28B-09	17930647	48801543	106469017	67	27942										
PFKFB1	5207	genome.wustl.edu	37	chrX	54985325	54985325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	0.8959018871154	0.695098039215686	0	0.714957983193277	0.166666666666667	0.380392156862746	0	aaactgcaggatcagtgaccGtcgttctctggtagtgttgg	13	8	2	1			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:54985325G>A	ENST00000375006.3	-	5	488	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	PFKFB1_ENST00000374992.2_Missense_Mutation_p.R118W|PFKFB1_ENST00000545676.1_Missense_Mutation_p.R75W	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	140	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATCAGTGACCGTCGTTCTCTG	0.448																																																	0													256	211	226					X																	54985325		2203	4300	6503	SO:0001583	missense	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.418C>T	X.37:g.54985325G>A	ENSP00000364145:p.Arg140Trp		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R140W	ENST00000375006.3	37	c.418	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099266	0.37048	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T	0.50001	0.76	4.49	3.62	0.41486	6-phosphofructo-2-kinase (1);	0.052309	0.85682	D	0.000000	T	0.76083	0.3938	H	0.99042	4.41	0.26878	N	0.967601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.76602	-0.2899	10	0.02654	T	1	-11.9035	12.6468	0.56740	0.0:0.0:0.8326:0.1674	.	75;118;140	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	W	140;75;118	ENSP00000364131:R118W	ENSP00000364131:R118W	R	-	1	2	PFKFB1	55002050	0.987000	0.35691	0.641000	0.29422	0.312000	0.27988	1.972000	0.40540	0.982000	0.38575	-0.213000	0.12676	CGG	PFKFB1	-	pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin		0.448	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	G			54985325	-1	no_errors	ENST00000375006	ensembl	human	known	70_37	missense	SNP	0.936	A	A	54985325	G	A	54985325	3	1	156	1	0	0	0	0	1	0	0	0	11784	1144	40	2	1037	2	PFKFB1	23	54985325	Missense_Mutation	SNP	G	TCGA-JW-A5VH-01A-11D-A28B-09	6183782	54985325	100285235	68	27943										
NEXN	91624	genome.wustl.edu	37	chr1	78408216	78408216	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tgctgaagatgaagagcaaaCcagatcaggagctccatggt	12	8	1	5			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr1:78408216C>G	ENST00000334785.7	+	13	1914	c.1730C>G	c.(1729-1731)aCc>aGc	p.T577S	FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000457030.1_Missense_Mutation_p.T563S|NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_Missense_Mutation_p.T513S	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGAGCAAACCAGATCAGGA	0.428																																																	0													91	92	92					1																	78408216		1916	4117	6033	SO:0001583	missense	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1730C>G	1.37:g.78408216C>G	ENSP00000333938:p.Thr577Ser			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.T577S	ENST00000334785.7	37	c.1730	CCDS41351.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.375|9.375	1.071497|1.071497	0.20147|0.20147	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785	.|T;T;T	.|0.59638	.|0.33;0.25;0.32	5.84|5.84	2.75|2.75	0.32379|0.32379	.|.	.|0.233113	.|0.29868	.|N	.|0.010994	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.10450	.|0.005;0.002;0.002	T|T	0.27331|0.27331	-1.0077|-1.0077	5|10	.|0.02654	.|T	.|1	0.1393|0.1393	10.3565|10.3565	0.43967|0.43967	0.0:0.6782:0.2507:0.0711|0.0:0.6782:0.2507:0.0711	.|.	.|563;577;513	.|Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;NEXN_HUMAN;.	A|S	477|563;513;577	.|ENSP00000388048:T563S;ENSP00000327363:T513S;ENSP00000333938:T577S	.|ENSP00000327363:T513S	P|T	+|+	1|2	0|0	NEXN|NEXN	78180804|78180804	0.983000|0.983000	0.35010|0.35010	0.990000|0.990000	0.47175|0.47175	0.046000|0.046000	0.14306|0.14306	1.610000|1.610000	0.36869|0.36869	0.290000|0.290000	0.22444|0.22444	0.591000|0.591000	0.81541|0.81541	CCA|ACC	NEXN	-	NULL		0.428	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	C	NM_144573		78408216	1	no_errors	ENST00000334785	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78408216	C	G	78408216	3	3	157	1	0	0	0	0	1	0	0	0	10379	507	18	4	1776	4	NEXN	1	78408216	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		78408216	170842405	1	27944										
PEAR1	375033	genome.wustl.edu	37	chr1	156879698	156879698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	atggggcccactgccagctgCcctgtccggtgagtgctgga	15	13	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr1:156879698C>T	ENST00000338302.3	+	13	1792	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	PEAR1_ENST00000292357.7_Missense_Mutation_p.P523S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	523					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCAGCTGCCCTGTCCGGT	0.662																																																	0													39	40	40					1																	156879698		2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1567C>T	1.37:g.156879698C>T	ENSP00000344465:p.Pro523Ser		Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.P523S	ENST00000338302.3	37	c.1567	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139898	0.37728	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.75154	-0.91;-0.91	5.05	4.14	0.48551	EGF-like region, conserved site (1);	0.000000	0.49305	D	0.000153	T	0.46502	0.1396	N	0.21508	0.67	0.40442	D	0.980055	P	0.48503	0.911	B	0.42112	0.376	T	0.49143	-0.8970	10	0.32370	T	0.25	.	11.2201	0.48848	0.0:0.9111:0.0:0.0889	.	523	Q5VY43	PEAR1_HUMAN	S	523	ENSP00000344465:P523S;ENSP00000292357:P523S	ENSP00000292357:P523S	P	+	1	0	PEAR1	155146322	0.944000	0.32072	0.995000	0.50966	0.683000	0.39861	2.364000	0.44187	1.359000	0.45940	0.561000	0.74099	CCC	PEAR1	-	superfamily_Growth_fac_rcpt,smart_EGF_laminin		0.662	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	C	NM_001080471		156879698	1	no_errors	ENST00000292357	ensembl	human	known	70_37	missense	SNP	0.964	T	T	156879698	C	T	156879698	3	4	157	1	0	0	0	0	1	0	0	0	11736	739	26	4	1609	4	PEAR1	1	156879698	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	78471482	156879698	92370923	2	27945										
RABIF	5877	genome.wustl.edu	37	chr1	202858203	202858203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccctcggctgacactaactcGctcggctgctccgctggttc	10	17	0	1	rs142176614	byFrequency	TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr1:202858203G>A	ENST00000367262.3	-	1	60	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	8					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACACTAACTCGCTCGGCTGCT	0.682																																																	0													29	29	29					1																	202858203		2203	4298	6501	SO:0001819	synonymous_variant	5877			S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.24C>T	1.37:g.202858203G>A			B2R4P4|Q92992	Silent	SNP	pfam_Mss4,superfamily_Mss4-like	p.S8	ENST00000367262.3	37	c.24	CCDS1428.1	1																																																																																			RABIF	-	NULL		0.682	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABIF	HGNC	protein_coding	OTTHUMT00000099183.1	G			202858203	-1	no_errors	ENST00000367262	ensembl	human	known	70_37	silent	SNP	0.829	A	A	202858203	G	A	202858203	2	1	157	1	0	0	0	0	0	0	0	1	12999	1078	38	2		2	RABIF	1	202858203	Silent	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	45978505	202858203	46392418	3	27946										
SLC35F3	148641	genome.wustl.edu	37	chr1	234444857	234444857	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cttgttttagggaatgctgtCgattttttggagacaatggc	12	5	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr1:234444857C>T	ENST00000366617.3	+	3	640	c.412C>T	c.(412-414)Cga>Tga	p.R138*	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Nonsense_Mutation_p.R207*			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	138					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGAATGCTGTCGATTTTTTGG	0.383																																																	0													107	98	101					1																	234444857		2203	4300	6503	SO:0001587	stop_gained	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.412C>T	1.37:g.234444857C>T	ENSP00000355576:p.Arg138*		Q5TDD6|Q8N9C9	Nonsense_Mutation	SNP	pfam_DMT,pfam_DUF250,pfam_DUF914_euk	p.R207*	ENST00000366617.3	37	c.619		1	.	.	.	.	.	.	.	.	.	.	C	38	6.960817	0.97964	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	.	.	.	5.64	4.71	0.59529	.	0.054850	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5892	11.3947	0.49834	0.1421:0.7212:0.1367:0.0	.	.	.	.	X	207;138	.	ENSP00000355576:R138X	R	+	1	2	SLC35F3	232511480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.703000	0.47110	1.355000	0.45865	0.655000	0.94253	CGA	SLC35F3	-	NULL		0.383	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	C	NM_173508		234444857	1	no_errors	ENST00000366618	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	234444857	C	T	234444857	4	4	157	1	0	0	0	0	0	1	0	0	14620	876	31	1	633	1	SLC35F3	1	234444857	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	31586654	234444857	14805764	4	27947										
ZNF672	79894	genome.wustl.edu	37	chr1	249142781	249142781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tccgcagtgggcactgccctCgtctttgaggggccggctga	15	13	1	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr1:249142781C>T	ENST00000306562.3	+	4	2054	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCACTGCCCTCGTCTTTGAGG	0.642																																																	0													12	11	11					1																	249142781		2077	4091	6168	SO:0001819	synonymous_variant	79894			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1308C>T	1.37:g.249142781C>T			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L436	ENST00000306562.3	37	c.1308	CCDS1638.1	1																																																																																			ZNF672	-	NULL		0.642	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	C	NM_024836		249142781	1	no_errors	ENST00000306562	ensembl	human	known	70_37	silent	SNP	0.000	T	T	249142781	C	T	249142781	2	4	157	1	0	0	0	0	0	0	0	1	18109	871	31	1		1	ZNF672	1	249142781	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	14697924	249142781	107840	5	27948										
ACTR2	10097	genome.wustl.edu	37	chr2	65473736	65473736	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ctatggaaaatggcatagtaCgaaattgggatgacatgaaa	11	4	0	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr2:65473736C>T	ENST00000260641.5	+	3	395	c.238C>T	c.(238-240)Cga>Tga	p.R80*	ACTR2_ENST00000377982.4_Nonsense_Mutation_p.R85*|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Nonsense_Mutation_p.R25*	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	80					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TGGCATAGTACGAAATTGGGA	0.373																																																	0													128	133	131					2																	65473736		2203	4300	6503	SO:0001587	stop_gained	10097			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.238C>T	2.37:g.65473736C>T	ENSP00000260641:p.Arg80*		B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R85*	ENST00000260641.5	37	c.253	CCDS1881.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.175894	0.97348	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	.	.	.	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8398	14.259	0.66073	0.2709:0.7291:0.0:0.0	.	.	.	.	X	80;25;85;25	.	ENSP00000260641:R80X	R	+	1	2	ACTR2	65327240	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.504000	0.45416	1.335000	0.45486	0.561000	0.74099	CGA	ACTR2	-	pfam_Actin-like,smart_Actin-like		0.373	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	C	NM_001005386		65473736	1	no_errors	ENST00000377982	ensembl	human	known	70_37	nonsense	SNP	0.990	T	T	65473736	C	T	65473736	4	4	157	1	0	0	0	0	0	1	0	0	211	528	19	2	267	2	ACTR2	2	65473736	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		65473736	177725637	6	27949										
FBXO41	150726	genome.wustl.edu	37	chr2	73491609	73491609	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gcgtgaggggctgaccctctCtgctcgccgaccccgcccac	12	19	1	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr2:73491609C>G	ENST00000521871.1	-	6	2018	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	FBXO41_ENST00000520530.2_Missense_Mutation_p.E535Q|FBXO41_ENST00000295133.5_Missense_Mutation_p.E596Q			Q8TF61	FBX41_HUMAN	F-box protein 41	535	F-box.									breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CTGACCCTCTCTGCTCGCCGA	0.627																																																	0													51	57	55					2																	73491609		2082	4202	6284	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1603G>C	2.37:g.73491609C>G	ENSP00000428646:p.Glu535Gln		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.E596Q	ENST00000521871.1	37	c.1786	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025727	0.54683	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.26	5.26	0.73747	.	0.577437	0.18708	N	0.133391	T	0.53286	0.1787	L	0.40543	1.245	0.53005	D	0.999963	B	0.27559	0.181	B	0.23419	0.046	T	0.47522	-0.9111	9	0.15066	T	0.55	.	17.6182	0.88073	0.0:1.0:0.0:0.0	.	535	Q8TF61	FBX41_HUMAN	Q	596;535	.	ENSP00000295133:E596Q	E	-	1	0	FBXO41	73345117	1.000000	0.71417	0.932000	0.37286	0.769000	0.43574	5.310000	0.65780	2.737000	0.93849	0.643000	0.83706	GAG	FBXO41	-	NULL		0.627	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	C			73491609	-1	no_errors	ENST00000295133	ensembl	human	known	70_37	missense	SNP	0.990	G	G	73491609	C	G	73491609	3	3	157	1	0	0	0	0	1	0	0	0	5768	922	32	1	1056	1	FBXO41	2	73491609	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	8017873	73491609	169707764	7	27950										
IL1F10	84639	genome.wustl.edu	37	chr2	113832909	113832909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aggagagtgagccctcagccCgtaccaagttttactttgaa	10	10	1	3	rs140273950	byFrequency	TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr2:113832909C>T	ENST00000393197.2	+	4	848	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	IL1F10_ENST00000337569.3_Missense_Mutation_p.R143C|IL1F10_ENST00000341010.2_Missense_Mutation_p.R143C	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	143						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						GCCCTCAGCCCGTACCAAGTT	0.577													C|||	9	0.00179712	0	0	5008	,	,		18857	0		0	False		,,,				2504	0.0092																0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	60	62	61		427,427	-0.6	0.1	2	dbSNP_134	61	1,8599		0,1,4299	no	missense,missense	IL1F10	NM_032556.5,NM_173161.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	143/153,143/153	113832909	1,13005	2203	4300	6503	SO:0001583	missense	84639			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"Interleukins and interleukin receptors"	15552	protein-coding gene	gene with protein product	"FIL1- theta", "interleukin-1 receptor antagonist FKSG75"	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.427C>T	2.37:g.113832909C>T	ENSP00000376893:p.Arg143Cys		Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1B	p.R143C	ENST00000393197.2	37	c.427	CCDS2112.1	2	.	.	.	.	.	.	.	.	.	.	C	4.093	0.015210	0.07959	0.0	1.16E-4	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.16743	2.32;2.32;2.32	4.87	-0.547	0.11836	.	0.848252	0.10644	N	0.650705	T	0.11452	0.0279	L	0.36672	1.1	0.09310	N	0.999992	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.002	T	0.31223	-0.9951	10	0.37606	T	0.19	-13.1867	4.8979	0.13760	0.1377:0.5296:0.0:0.3327	.	143;143	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	C	143	ENSP00000341794:R143C;ENSP00000338418:R143C;ENSP00000376893:R143C	ENSP00000338418:R143C	R	+	1	0	IL1F10	113549380	0.000000	0.05858	0.050000	0.19076	0.126000	0.20510	-0.240000	0.08952	-0.024000	0.13941	-0.150000	0.13652	CGT	IL1F10	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1		0.577	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	IL1F10	HGNC	protein_coding	OTTHUMT00000330725.1	C	NM_173161		113832909	1	no_errors	ENST00000337569	ensembl	human	known	70_37	missense	SNP	0.231	T	T	113832909	C	T	113832909	3	4	157	1	0	0	0	0	1	0	0	0	7672	652	23	2	441	2	IL1F10	2	113832909	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	40341300	113832909	129366464	8	27951										
UBXN4	23190	genome.wustl.edu	37	chr2	136540402	136540402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ttatagattaaggactcaagAtgatggtgaagatgaaaaca	10	3	1	6			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr2:136540402A>G	ENST00000272638.9	+	13	1783	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	491					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AGGACTCAAGATGATGGTGAA	0.363																																																	0													118	119	119					2																	136540402		1858	4102	5960	SO:0001583	missense	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1472A>G	2.37:g.136540402A>G	ENSP00000272638:p.Asp491Gly		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.D491G	ENST00000272638.9	37	c.1472	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264082	0.59431	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.51574	0.7	5.48	5.48	0.80851	.	0.048508	0.85682	D	0.000000	T	0.53899	0.1825	L	0.59436	1.845	0.58432	D	0.999996	D	0.53151	0.958	P	0.49502	0.613	T	0.54814	-0.8237	10	0.41790	T	0.15	.	15.5684	0.76313	1.0:0.0:0.0:0.0	.	491	Q92575	UBXN4_HUMAN	G	491;473	ENSP00000272638:D491G	ENSP00000272638:D491G	D	+	2	0	UBXN4	136256872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.891000	0.92485	2.067000	0.61834	0.523000	0.50628	GAT	UBXN4	-	NULL		0.363	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	A	NM_014607		136540402	1	no_errors	ENST00000272638	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136540402	A	G	136540402	3	3	157	1	0	0	0	0	1	0	0	0	16947	333	12	5	1522	5	UBXN4	2	136540402	Missense_Mutation	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09	22707493	136540402	106658971	9	27952										
THSD7B	80731	genome.wustl.edu	37	chr2	137852675	137852675	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gcattgttgaaggagaacttCtgcagcaatgtcccaggtat	11	8	1	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr2:137852675C>G	ENST00000409968.1	+	4	1361	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	THSD7B_ENST00000413152.2_Missense_Mutation_p.L364V|THSD7B_ENST00000272643.3_Missense_Mutation_p.L395V|THSD7B_ENST00000543459.1_Missense_Mutation_p.L254V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	395						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGAGAACTTCTGCAGCAATG	0.448																																																	0													80	89	86					2																	137852675		1966	4164	6130	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1183C>G	2.37:g.137852675C>G	ENSP00000387145:p.Leu395Val			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L395V	ENST00000409968.1	37	c.1183		2	.	.	.	.	.	.	.	.	.	.	C	7.201	0.593569	0.13875	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.24350	2.46;2.33;1.94;1.86	5.81	1.35	0.21983	.	0.062011	0.64402	D	0.000003	T	0.35068	0.0919	L	0.46614	1.455	0.40473	D	0.980366	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.17868	-1.0355	10	0.11794	T	0.64	.	9.408	0.38473	0.0:0.726:0.1568:0.1172	.	395;364	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	395;395;364;254	ENSP00000387145:L395V;ENSP00000272643:L395V;ENSP00000413841:L364V;ENSP00000443370:L254V	ENSP00000272643:L395V	L	+	1	2	THSD7B	137569145	0.983000	0.35010	0.253000	0.24343	0.030000	0.12068	2.486000	0.45259	0.257000	0.21650	0.644000	0.83932	CTG	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.448	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		137852675	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	0.926	G	G	137852675	C	G	137852675	3	3	157	1	0	0	0	0	1	0	0	0	15910	912	32	1	1100	1	THSD7B	2	137852675	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	1312273	137852675	105346698	10	27953										
SCN7A	6332	genome.wustl.edu	37	chr2	167328850	167328850	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aacacagttacgctgaaatcGagccagttccatggatcacc	8	12	1	1	rs376920778		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr2:167328850G>A	ENST00000409855.1	-	5	675	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	183					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CGCTGAAATCGAGCCAGTTCC	0.353													G|||	1	0.000199681	8e-04	0	5008	,	,		17577	0		0	False		,,,				2504	0																0								G		1,3779		0,1,1889	47	47	47		549	-10.7	0.4	2		47	0,8300		0,0,4150	no	coding-synonymous	SCN7A	NM_002976.3		0,1,6039	AA,AG,GG		0.0,0.0265,0.0083		183/1683	167328850	1,12079	1890	4150	6040	SO:0001819	synonymous_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.549C>T	2.37:g.167328850G>A				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L183	ENST00000409855.1	37	c.549	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Ion_trans_dom		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	G			167328850	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	silent	SNP	0.482	A	A	167328850	G	A	167328850	2	1	157	1	0	0	0	0	0	0	0	1	13953	1045	37	1		1	SCN7A	2	167328850	Silent	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	29476175	167328850	75870523	11	27954										
SH3BP2	6452	genome.wustl.edu	37	chr4	2831494	2831494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cctctgagcaccatgcccacCgcacccggcctccggaaacc	8	21	1	1	rs376641544		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:2831494C>T	ENST00000356331.5	+	8	1122	c.861C>T	c.(859-861)acC>acT	p.T287T	SH3BP2_ENST00000503393.2_Silent_p.T344T|SH3BP2_ENST00000435136.2_Silent_p.T287T|SH3BP2_ENST00000511747.1_Silent_p.T287T|SH3BP2_ENST00000442312.2_Silent_p.T315T|SH3BP2_ENST00000452765.2_Silent_p.T287T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	287					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCATGCCCACCGCACCCGGCC	0.706									Cherubism																																								0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	38	42	41		861,945,1032,861	-10.3	0	4		41	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SH3BP2	NM_001122681.1,NM_001145855.1,NM_001145856.1,NM_003023.4	,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,	287/562,315/590,344/619,287/562	2831494	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.861C>T	4.37:g.2831494C>T			A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.T344	ENST00000356331.5	37	c.1032	CCDS33944.1	4																																																																																			SH3BP2	-	NULL		0.706	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SH3BP2	HGNC	protein_coding	OTTHUMT00000362406.2	C	NM_003023		2831494	1	no_errors	ENST00000503393	ensembl	human	known	70_37	silent	SNP	0.000	T	T	2831494	C	T	2831494	2	4	157	1	0	0	0	0	0	0	0	1	14275	639	23	2		2	SH3BP2	4	2831494	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		2831494	188322782	12	27955										
MAN2B2	23324	genome.wustl.edu	37	chr4	6596327	6596327	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tggacccgctgctggaccacAtcaacagccatgctgccgag	11	15	1	0	rs536840018		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:6596327A>T	ENST00000285599.3	+	7	961	c.925A>T	c.(925-927)Atc>Ttc	p.I309F	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	309					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCTGGACCACATCAACAGCCA	0.602																																																	0													130	96	107					4																	6596327		2203	4300	6503	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.925A>T	4.37:g.6596327A>T	ENSP00000285599:p.Ile309Phe		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.I309F	ENST00000285599.3	37	c.925	CCDS33951.1	4	.	.	.	.	.	.	.	.	.	.	A	19.14	3.768915	0.69878	.	.	ENSG00000013288	ENST00000285599	T	0.76578	-1.03	4.4	0.282	0.15692	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.320649	0.31909	N	0.006879	D	0.82719	0.5098	M	0.77616	2.38	0.80722	D	1	D;P	0.59767	0.986;0.891	D;P	0.66351	0.943;0.681	T	0.78285	-0.2263	10	0.72032	D	0.01	-25.4284	4.1555	0.10258	0.6762:0.0:0.1736:0.1502	.	309;309	Q9Y2E5;Q9Y2E5-2	MA2B2_HUMAN;.	F	309	ENSP00000285599:I309F	ENSP00000285599:I309F	I	+	1	0	MAN2B2	6647228	0.999000	0.42202	0.540000	0.28089	0.878000	0.50629	3.968000	0.56809	-0.184000	0.10567	-0.499000	0.04595	ATC	MAN2B2	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl		0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	A	NM_015274		6596327	1	no_errors	ENST00000285599	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6596327	A	T	6596327	3	4	157	1	0	0	0	0	1	0	0	0	9240	217	8	5	951	5	MAN2B2	4	6596327	Missense_Mutation	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09	3764833	6596327	184557949	13	27956										
EPHA5	2044	genome.wustl.edu	37	chr4	66189873	66189873	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	taccagctgcaccttcatttCttgaaggctgttcatgatct	7	11	4	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:66189873C>G	ENST00000273854.3	-	18	3673	c.3073G>C	c.(3073-3075)Gaa>Caa	p.E1025Q	EPHA5_ENST00000432638.2_Missense_Mutation_p.E862Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.E1003Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1025	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACCTTCATTTCTTGAAGGCTG	0.433										TSP Lung(17;0.13)																																							0													124	112	116					4																	66189873		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3073G>C	4.37:g.66189873C>G	ENSP00000273854:p.Glu1025Gln		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1025Q	ENST00000273854.3	37	c.3073	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695821	0.30052	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839	T;T;T	0.47177	0.85;0.85;0.85	5.25	5.25	0.73442	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000039	T	0.43100	0.1232	N	0.17872	0.535	0.80722	D	1	P;P;P;B	0.43973	0.757;0.823;0.82;0.097	P;P;B;B	0.48524	0.58;0.565;0.444;0.057	T	0.15492	-1.0435	10	0.15066	T	0.55	.	18.8545	0.92246	0.0:1.0:0.0:0.0	.	1004;1026;1003;1025	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	1025;862;1003	ENSP00000273854:E1025Q;ENSP00000389208:E862Q;ENSP00000346899:E1003Q	ENSP00000273854:E1025Q	E	-	1	0	EPHA5	65872468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.446000	0.52928	2.446000	0.82766	0.557000	0.71058	GAA	EPHA5	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM		0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	C	NM_004439		66189873	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66189873	C	G	66189873	3	3	157	1	0	0	0	0	1	0	0	0	5182	922	32	1	44	1	EPHA5	4	66189873	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	59593546	66189873	124964403	14	27957										
THAP9	79725	genome.wustl.edu	37	chr4	83839270	83839270	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cctacctgcatggcattccaGaaagcttactataatttgga	7	10	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:83839270G>C	ENST00000302236.5	+	5	1956	c.1905G>C	c.(1903-1905)caG>caC	p.Q635H	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	635					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGGCATTCCAGAAAGCTTACT	0.353																																																	0													44	47	46					4																	83839270		2201	4299	6500	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1905G>C	4.37:g.83839270G>C	ENSP00000305533:p.Gln635His		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q635H	ENST00000302236.5	37	c.1905	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	7.290	0.610960	0.14066	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90676	-2.71	3.87	0.566	0.17317	.	0.403417	0.18770	N	0.131644	D	0.88808	0.6537	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	P	0.56865	0.808	D	0.83805	0.0238	10	0.44086	T	0.13	-1.0814	4.7194	0.12912	0.2409:0.1686:0.5905:0.0	.	635	Q9H5L6	THAP9_HUMAN	H	635	ENSP00000305533:Q635H	ENSP00000305533:Q635H	Q	+	3	2	THAP9	84058294	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	0.843000	0.27640	0.071000	0.16664	-0.150000	0.13652	CAG	THAP9	-	NULL		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83839270	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.999	C	C	83839270	G	C	83839270	3	2	157	1	0	0	0	0	1	0	0	0	15881	933	33	1	1923	1	THAP9	4	83839270	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	17649397	83839270	107315006	15	27958										
PTPN13	5783	genome.wustl.edu	37	chr4	87653625	87653625	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tggatttgccacggtctattCttgtaagtaataaaaccaat	7	7	2	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:87653625C>G	ENST00000411767.2	+	11	1744	c.1681C>G	c.(1681-1683)Ctt>Gtt	p.L561V	PTPN13_ENST00000427191.2_Missense_Mutation_p.L561V|PTPN13_ENST00000436978.1_Missense_Mutation_p.L561V|PTPN13_ENST00000511467.1_Missense_Mutation_p.L561V|PTPN13_ENST00000316707.6_Missense_Mutation_p.L561V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	561					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACGGTCTATTCTTGTAAGTAA	0.294																																																	0													52	47	49					4																	87653625		1796	4059	5855	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1681C>G	4.37:g.87653625C>G	ENSP00000407249:p.Leu561Val		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L561V	ENST00000411767.2	37	c.1681	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	C	12.94	2.086995	0.36855	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.48201	0.82;0.86;0.87;0.83;0.86	5.79	5.79	0.91817	.	0.000000	0.39475	N	0.001349	T	0.36331	0.0963	N	0.10945	0.07	0.37653	D	0.922492	P;D;D;D	0.69078	0.715;0.991;0.985;0.997	P;P;P;P	0.59643	0.553;0.853;0.625;0.861	T	0.42548	-0.9445	10	0.05959	T	0.93	.	7.6018	0.28079	0.0:0.8056:0.0:0.1944	.	561;561;561;561	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	561;561;561;561;561;529	ENSP00000408368:L561V;ENSP00000394794:L561V;ENSP00000322675:L561V;ENSP00000407249:L561V;ENSP00000426626:L561V	ENSP00000322675:L561V	L	+	1	0	PTPN13	87872649	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.169000	0.42434	2.725000	0.93324	0.557000	0.71058	CTT	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.294	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	C			87653625	1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87653625	C	G	87653625	3	3	157	1	0	0	0	0	1	0	0	0	12810	913	32	1	1719	1	PTPN13	4	87653625	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	3814355	87653625	103500651	16	27959										
ADH6	130	genome.wustl.edu	37	chr4	100129851	100129851	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gtccagatttccaatggcctCaaagcagaagtctataccag	8	11	2	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:100129851C>A	ENST00000237653.7	-	6	1186	c.802G>T	c.(802-804)Gag>Tag	p.E268*	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Nonsense_Mutation_p.E268*|ADH6_ENST00000394899.2_Nonsense_Mutation_p.E268*|ADH6_ENST00000407820.2_Nonsense_Mutation_p.E59*|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	268					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CCAATGGCCTCAAAGCAGAAG	0.393																																																	0													165	176	172					4																	100129851		2203	4300	6503	SO:0001587	stop_gained	130			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.802G>T	4.37:g.100129851C>A	ENSP00000237653:p.Glu268*		B3KS45|Q58F53	Nonsense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.E268*	ENST00000237653.7	37	c.802	CCDS3647.1	4	.	.	.	.	.	.	.	.	.	.	C	38	7.104919	0.98066	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	.	.	.	4.71	3.81	0.43845	.	0.047602	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.8758	15.3988	0.74818	0.0:0.8606:0.1394:0.0	.	.	.	.	X	268;268;59;268;204	.	ENSP00000237653:E268X	E	-	1	0	ADH6	100348874	1.000000	0.71417	0.589000	0.28718	0.007000	0.05969	5.102000	0.64572	2.316000	0.78162	0.557000	0.71058	GAG	ADH6	-	pfam_ADH_C,smart_PKS_ER		0.393	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	C	NM_000672		100129851	-1	no_errors	ENST00000394899	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	100129851	C	A	100129851	4	1	157	1	0	0	0	0	0	1	0	0	312	835	29	3	345	3	ADH6	4	100129851	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	12476226	100129851	91024425	17	27960										
MTTP	4547	genome.wustl.edu	37	chr4	100530023	100530023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cattttaaataacaatccatCctacatggacgtcaagaaca	4	10	1	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:100530023C>T	ENST00000265517.5	+	12	1861	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	MTTP_ENST00000511045.1_Missense_Mutation_p.S580F|MTTP_ENST00000457717.1_Missense_Mutation_p.S553F|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	553	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AACAATCCATCCTACATGGAC	0.408																																																	0													132	131	131					4																	100530023		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1658C>T	4.37:g.100530023C>T	ENSP00000265517:p.Ser553Phe		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S553F	ENST00000265517.5	37	c.1658	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628112	0.87560	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.72615	-0.67;-0.67;-0.67	5.12	5.12	0.69794	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.973	D;P	0.79784	0.993;0.876	D	0.86368	0.1721	10	0.66056	D	0.02	-8.3824	18.9281	0.92553	0.0:1.0:0.0:0.0	.	580;553	E9PBP6;P55157	.;MTP_HUMAN	F	580;553;553	ENSP00000427679:S580F;ENSP00000400821:S553F;ENSP00000265517:S553F	ENSP00000265517:S553F	S	+	2	0	MTTP	100749046	1.000000	0.71417	0.971000	0.41717	0.824000	0.46624	7.357000	0.79456	2.532000	0.85374	0.655000	0.94253	TCC	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	C			100530023	1	no_errors	ENST00000265517	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100530023	C	T	100530023	3	4	157	1	0	0	0	0	1	0	0	0	9987	855	30	1	1704	1	MTTP	4	100530023	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	400172	100530023	90624253	18	27961										
DCHS2	54798	genome.wustl.edu	37	chr4	155155736	155155736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	agttcatggcatgtaccactGatgtgtgttcctaataattc	8	8	1	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:155155736G>A	ENST00000357232.4	-	25	8702	c.8703C>T	c.(8701-8703)atC>atT	p.I2901I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2901					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGTACCACTGATGTGTGTTC	0.433																																																	0													153	131	138					4																	155155736		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8703C>T	4.37:g.155155736G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I2901	ENST00000357232.4	37	c.8703	CCDS3785.1	4																																																																																			DCHS2	-	NULL		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155155736	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.000	A	A	155155736	G	A	155155736	2	1	157	1	0	0	0	0	0	0	0	1	4293	1280	45	1		1	DCHS2	4	155155736	Silent	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	54625713	155155736	35998540	19	27962										
TKTL2	84076	genome.wustl.edu	37	chr4	164393427	164393427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	caatctcaaaattttcttgtGgggtataaataactgcagtt	7	6	2	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:164393427G>A	ENST00000280605.3	-	1	1620	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	487						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.P487R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATTTTCTTGTGGGGTATAAAT	0.463																																																	1	Substitution - Missense(1)	lung(1)											113	119	117					4																	164393427		2203	4300	6503	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1460C>T	4.37:g.164393427G>A	ENSP00000280605:p.Pro487Leu		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.P487L	ENST00000280605.3	37	c.1460	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123193	0.20959	.	.	ENSG00000151005	ENST00000280605	D	0.91894	-2.93	4.15	4.15	0.48705	.	0.192855	0.45126	D	0.000381	D	0.91099	0.7198	M	0.80847	2.515	0.20403	N	0.99991	B	0.29955	0.263	B	0.32677	0.15	T	0.81858	-0.0739	10	0.24483	T	0.36	-1.9798	12.2328	0.54497	0.0:0.0:1.0:0.0	.	487	Q9H0I9	TKTL2_HUMAN	L	487	ENSP00000280605:P487L	ENSP00000280605:P487L	P	-	2	0	TKTL2	164612877	0.871000	0.30034	0.010000	0.14722	0.934000	0.57294	4.285000	0.58989	2.611000	0.88343	0.650000	0.86243	CCA	TKTL2	-	NULL		0.463	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	G	NM_032136		164393427	-1	no_errors	ENST00000280605	ensembl	human	known	70_37	missense	SNP	0.008	A	A	164393427	G	A	164393427	3	1	157	1	0	0	0	0	1	0	0	0	15966	1348	47	4	424	4	TKTL2	4	164393427	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	9237691	164393427	26760849	20	27963										
HELT	391723	genome.wustl.edu	37	chr4	185940974	185940975	+	Frame_Shift_Ins	INS	-	-	T													0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	agagcactgcactccgctgaINSttttccccggggaagggaaa							TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:185940974_185940975insT	ENST00000515777.1	+	3	294_295	c.206_207insT	c.(205-210)gattttfs	p.DF69fs	HELT_ENST00000505610.1_Frame_Shift_Ins_p.DF69fs|HELT_ENST00000338875.4_Frame_Shift_Ins_p.DF154fs			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	69					central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CACTCCGCTGATTTTCCCCGGG	0.634																																																	0																																										SO:0001589	frameshift_variant	391723			BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.210dupT	4.37:g.185940978_185940978dupT	ENSP00000426033:p.Asp69fs		B2RTS5|B7ZMI7|B7ZMI8	Frame_Shift_Ins	INS	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,pfscan_Orange,pfscan_HLH_dom	p.P156fs	ENST00000515777.1	37	c.461_462		4																																																																																			HELT	-	smart_HLH_dom		0.634	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	HELT	HGNC	protein_coding	OTTHUMT00000360792.1	-	NM_001300781		185940975	1	no_errors	ENST00000338875	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	T	T	185940975	-	T	185940974	7	5	157	1	0	1	1	0	0	0	0	0	7068	333	12	0	471	0	HELT	4	185940974	Frame_Shift_Ins	INS	-	TCGA-JW-A5VI-01A-11D-A28B-09	21547547	185940974	5213302	21	27964	168	2								
HELT	391723	genome.wustl.edu	37	chr4	185940979	185940979	+	Missense_Mutation	SNP	C	C	T													0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cactgcactccgctgattttCcccggggaagggaaaaaggt					rs147187823		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr4:185940979C>T	ENST00000515777.1	+	3	299	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	HELT_ENST00000505610.1_Missense_Mutation_p.P71S|HELT_ENST00000338875.4_Missense_Mutation_p.P156S			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	71					central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCTGATTTTCCCCGGGGAAG	0.632													c|||	1	0.000199681	8e-04	0	5008	,	,		15683	0		0	False		,,,				2504	0																0								C	SER/PRO	3,4401		0,3,2199	26	26	26		466	4.9	1	4	dbSNP_134	26	0,8600		0,0,4300	yes	missense	HELT	NM_001029887.1	74	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	benign	156/328	185940979	3,13001	2202	4300	6502	SO:0001583	missense	391723			BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.211C>T	4.37:g.185940979C>T	ENSP00000426033:p.Pro71Ser		B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,pfscan_Orange,pfscan_HLH_dom	p.P156S	ENST00000515777.1	37	c.466		4	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269824	0.40095	6.81E-4	0.0	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;D	0.98221	-0.09;-0.09;-4.8	4.89	4.89	0.63831	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	L	0.38953	1.18	0.80722	D	1	B;B;B	0.31769	0.339;0.023;0.066	B;B;B	0.26094	0.066;0.012;0.028	D	0.94698	0.7880	10	0.15952	T	0.53	-11.869	17.8433	0.88721	0.0:1.0:0.0:0.0	.	156;71;71	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	S	71;71;156	ENSP00000422140:P71S;ENSP00000426033:P71S;ENSP00000343464:P156S	ENSP00000343464:P156S	P	+	1	0	HELT	186177973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.411000	0.80078	2.551000	0.86045	0.561000	0.74099	CCC	HELT	-	smart_HLH_dom		0.632	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	HELT	HGNC	protein_coding	OTTHUMT00000360792.1	C	NM_001300781		185940979	1	no_errors	ENST00000338875	ensembl	human	known	70_37	missense	SNP	1.000	T	T	185940979	C	T	185940979	3	4	157	1	0	0	0	0	1	0	0	0	7068	855	30	1	476	1	HELT	4	185940979	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	5	185940979	5213297	22	27965	168	2								
PRDM9	56979	genome.wustl.edu	37	chr5	23509156	23509156	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cagcaccatgagccctgaaaAgtcccaagaggagagcccag	11	13	0	4			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr5:23509156A>T	ENST00000296682.3	+	2	196	c.14A>T	c.(13-15)aAg>aTg	p.K5M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	5					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCCCTGAAAAGTCCCAAGAG	0.567										HNSCC(3;0.000094)																																							0													75	79	78					5																	23509156		1897	4132	6029	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.14A>T	5.37:g.23509156A>T	ENSP00000296682:p.Lys5Met		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K5M	ENST00000296682.3	37	c.14	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	6.390	0.440080	0.12104	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.10960	2.82;2.97	1.88	-3.08	0.05347	.	.	.	.	.	T	0.07413	0.0187	L	0.29908	0.895	0.09310	N	1	B	0.28713	0.22	B	0.30855	0.121	T	0.31052	-0.9957	9	0.87932	D	0	.	4.9679	0.14100	0.4728:0.1553:0.3719:0.0	.	5	Q9NQV7	PRDM9_HUMAN	M	5	ENSP00000425471:K5M;ENSP00000296682:K5M	ENSP00000296682:K5M	K	+	2	0	PRDM9	23544913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.515000	0.06290	-1.577000	0.01650	-1.299000	0.01334	AAG	PRDM9	-	NULL		0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	A	NM_020227		23509156	1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	0.000	T	T	23509156	A	T	23509156	3	4	157	1	0	0	0	0	1	0	0	0	12490	72	3	5	16	5	PRDM9	5	23509156	Missense_Mutation	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09		23509156	157406104	23	27966										
IPO11	51194	genome.wustl.edu	37	chr5	61747703	61747703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gcattacttaccttctatcaTgttaccaagacactggcatc	5	12	2	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr5:61747703T>C	ENST00000325324.6	+	5	628	c.459T>C	c.(457-459)caT>caC	p.H153H	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Silent_p.H193H	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	153					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCTTCTATCATGTTACCAAGA	0.373																																																	0													147	136	140					5																	61747703		2203	4300	6503	SO:0001819	synonymous_variant	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.459T>C	5.37:g.61747703T>C			A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.H193	ENST00000325324.6	37	c.579	CCDS34167.1	5																																																																																			IPO11	-	superfamily_ARM-type_fold		0.373	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	T	NM_016338		61747703	1	no_errors	ENST00000409296	ensembl	human	known	70_37	silent	SNP	1.000	C	C	61747703	T	C	61747703	2	2	157	1	0	0	0	0	0	0	0	1	7813	1461	51	5		5	IPO11	5	61747703	Silent	SNP	T	TCGA-JW-A5VI-01A-11D-A28B-09	38238547	61747703	119167557	24	27967										
HSD17B4	3295	genome.wustl.edu	37	chr5	118813176	118813176	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cgggcagcatgggaacacatGaagaaacagaagtatggaag	14	6	0	3			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr5:118813176G>A	ENST00000256216.6	+	7	547	c.414G>A	c.(412-414)atG>atA	p.M138I	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.M120I|HSD17B4_ENST00000513628.1_Start_Codon_SNP_p.M1I|HSD17B4_ENST00000504811.1_Missense_Mutation_p.M163I|HSD17B4_ENST00000510025.1_Missense_Mutation_p.M114I|HSD17B4_ENST00000414835.2_Start_Codon_SNP_p.M1I	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	138	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGGAACACATGAAGAAACAGA	0.378																																					Colon(35;490 801 34689 41394 43344)												0													74	75	75					5																	118813176		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.414G>A	5.37:g.118813176G>A	ENSP00000256216:p.Met138Ile		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.M138I	ENST00000256216.6	37	c.414	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.456458	0.96223	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;T;D	0.91740	-2.9;-2.9;-2.9;-2.9;-1.38;-2.9	6.02	6.02	0.97574	NAD(P)-binding domain (1);	0.036044	0.85682	D	0.000000	D	0.96200	0.8761	M	0.81112	2.525	0.80722	D	1	P;D;D;P	0.64830	0.866;0.994;0.983;0.95	P;D;D;D	0.66602	0.814;0.926;0.945;0.925	D	0.95866	0.8887	10	0.72032	D	0.01	-33.3167	20.1358	0.98028	0.0:0.0:1.0:0.0	.	163;120;114;138	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	I	138;120;114;163;1;1	ENSP00000256216:M138I;ENSP00000424613:M120I;ENSP00000424940:M114I;ENSP00000420914:M163I;ENSP00000411960:M1I;ENSP00000425993:M1I	ENSP00000256216:M138I	M	+	3	0	HSD17B4	118841075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.698000	0.98700	2.865000	0.98341	0.655000	0.94253	ATG	HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH		0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	G	NM_000414		118813176	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118813176	G	A	118813176	3	1	157	1	0	0	0	0	1	0	0	0	7406	1290	45	1	440	1	HSD17B4	5	118813176	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	57065473	118813176	62102084	25	27968										
PCDHB8	56128	genome.wustl.edu	37	chr5	140558959	140558959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gtgtcggacgtcaatgacaaCgcccccgccttcacccaaac	8	17	2	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr5:140558959C>T	ENST00000239444.2	+	1	1589	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N448N(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.592																																																	1	Substitution - coding silent(1)	large_intestine(1)											163	209	193					5																	140558959		2203	4300	6503	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1344C>T	5.37:g.140558959C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N448	ENST00000239444.2	37	c.1344	CCDS4250.1	5																																																																																			PCDHB8	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	C	NM_019120		140558959	1	no_errors	ENST00000239444	ensembl	human	known	70_37	silent	SNP	0.994	T	T	140558959	C	T	140558959	2	4	157	1	0	0	0	0	0	0	0	1	11572	535	19	2		2	PCDHB8	5	140558959	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	21745783	140558959	40356301	26	27969										
PCDH1	5097	genome.wustl.edu	37	chr5	141236899	141236899	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tcaggcagggccaggggaccGagtcgaggccctgaggatga	18	10	1	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr5:141236899G>A	ENST00000287008.3	-	4	3384	c.3237C>T	c.(3235-3237)ctC>ctT	p.L1079L	PCDH1_ENST00000503492.1_Silent_p.L347L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCAGGGGACCGAGTCGAGGCC	0.622																																					Ovarian(132;1609 1739 4190 14731 45037)												0													78	70	73					5																	141236899		2203	4300	6503	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3237C>T	5.37:g.141236899G>A			Q8IUP2	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1079	ENST00000287008.3	37	c.3237	CCDS4267.1	5																																																																																			PCDH1	-	NULL		0.622	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000320587.2	G	NM_032420		141236899	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	silent	SNP	0.089	A	A	141236899	G	A	141236899	2	1	157	1	0	0	0	0	0	0	0	1	11530	1045	37	1		1	PCDH1	5	141236899	Silent	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	677940	141236899	39678361	27	27970										
HLA-B	3106	genome.wustl.edu	37	chr6	31324878	31324879	+	Frame_Shift_Ins	INS	-	-	CA													0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tcaccggcccaggtctcggtINScagggccagggccgccgaga							TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr6:31324878_31324879insCA	ENST00000412585.2	-	1	85_86	c.57_58insTG	c.(55-60)ctgaccfs	p.T20fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	20					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CAGGTCTCGGTCAGGGCCAGGG	0.728									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0																																										SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.56_57dupTG	6.37:g.31324879_31324880dupCA	ENSP00000399168:p.Thr20fs		Q29764	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.T19fs	ENST00000412585.2	37	c.58_57	CCDS34394.1	6																																																																																			HLA-B	-	NULL		0.728	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	NM_005514		31324879	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	frame_shift_ins	INS	0.202:0.408	CA	CA	31324879	-	CA	31324878	7	5	157	1	0	1	1	0	0	0	0	0	7216	1667	58	0	1058	0	HLA-B	6	31324878	Frame_Shift_Ins	INS	-	TCGA-JW-A5VI-01A-11D-A28B-09		31324878	139790189	28	27971										
PSMB9	5698	genome.wustl.edu	37	chr6	32822041	32822041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	agcaccaaccggggacttacCccgggcgggagaagtccaca	13	14	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr6:32822041C>T	ENST00000374859.2	+	1	104	c.35C>T	c.(34-36)cCc>cTc	p.P12L	PSMB9_ENST00000453265.2_Missense_Mutation_p.P12L|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000354258.4_5'Flank|TAP1_ENST00000425148.2_5'Flank	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	GGGGACTTACCCCGGGCGGGA	0.692																																																	0													10	8	9					6																	32822041		1455	2629	4084	SO:0001583	missense	5698				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"Proteasome (prosome, macropain) subunits"	9546	protein-coding gene	gene with protein product		177045	"proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)", "large multifunctional peptidase 2"	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.35C>T	6.37:g.32822041C>T	ENSP00000363993:p.Pro12Leu		B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.P12L	ENST00000374859.2	37	c.35	CCDS4759.1	6	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165137	0.21538	.	.	ENSG00000240065	ENST00000374859;ENST00000453265;ENST00000395333	T;T	0.36520	1.68;1.25	4.97	4.09	0.47781	.	0.874843	0.09789	N	0.755639	T	0.04770	0.0129	N	0.04018	-0.295	0.09310	N	1	B	0.15141	0.012	B	0.15484	0.013	T	0.37430	-0.9706	10	0.06757	T	0.87	-9.6751	8.3124	0.32080	0.0:0.8909:0.0:0.1091	.	12	B4DZW2	.	L	12	ENSP00000363993:P12L;ENSP00000394773:P12L	ENSP00000363993:P12L	P	+	2	0	PSMB9	32930019	0.003000	0.15002	0.006000	0.13384	0.883000	0.51084	1.338000	0.33873	1.288000	0.44600	0.579000	0.79373	CCC	PSMB9	-	NULL		0.692	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	HGNC	protein_coding	OTTHUMT00000076624.5	C	NM_002800		32822041	1	no_errors	ENST00000374859	ensembl	human	known	70_37	missense	SNP	0.004	T	T	32822041	C	T	32822041	3	4	157	1	0	0	0	0	1	0	0	0	12711	623	22	4	37	4	PSMB9	6	32822041	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	1497163	32822041	138293026	29	27972										
DNAH8	1769	genome.wustl.edu	37	chr6	38840902	38840902	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tatatcagcagctctgctctCagctggaggccaatcttaca	8	12	4	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr6:38840902C>T	ENST00000359357.3	+	49	7061	c.6807C>T	c.(6805-6807)ctC>ctT	p.L2269L	DNAH8_ENST00000449981.2_Silent_p.L2486L|DNAH8_ENST00000441566.1_Silent_p.L2233L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2269	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTCTGCTCTCAGCTGGAGGC	0.488																																																	0													72	75	74					6																	38840902		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6807C>T	6.37:g.38840902C>T			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2269	ENST00000359357.3	37	c.6807		6																																																																																			DNAH8	-	smart_AAA+_ATPase		0.488	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38840902	1	no_errors	ENST00000359357	ensembl	human	known	70_37	silent	SNP	0.556	T	T	38840902	C	T	38840902	2	4	157	1	0	0	0	0	0	0	0	1	4617	813	29	1		1	DNAH8	6	38840902	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	6018861	38840902	132274165	30	27973										
LMBRD1	55788	genome.wustl.edu	37	chr6	70462177	70462177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tttactagtatcatcatcatCcttttcttcataatagaagt	3	8	5	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr6:70462177C>A	ENST00000370577.3	-	4	608	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	LMBRD1_ENST00000370570.1_Missense_Mutation_p.D54Y	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	127					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TCATCATCATCCTTTTCTTCA	0.299																																																	0													53	56	55					6																	70462177		2195	4278	6473	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.379G>T	6.37:g.70462177C>A	ENSP00000359609:p.Asp127Tyr		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.D127Y	ENST00000370577.3	37	c.379	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313027	0.81358	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.32272	1.46;1.46	5.23	5.23	0.72850	LMBR1-like membrane protein (1);	0.050794	0.85682	D	0.000000	T	0.53850	0.1822	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61973	-0.6952	10	0.72032	D	0.01	-13.9989	17.5764	0.87950	0.0:1.0:0.0:0.0	.	127	Q9NUN5	LMBD1_HUMAN	Y	127;54	ENSP00000359609:D127Y;ENSP00000359602:D54Y	ENSP00000359602:D54Y	D	-	1	0	LMBRD1	70518898	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.028000	0.76470	2.451000	0.82905	0.557000	0.71058	GAT	LMBRD1	-	pfam_LMBR1-like_membr_prot		0.299	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	C	NM_018368		70462177	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70462177	C	A	70462177	3	1	157	1	0	0	0	0	1	0	0	0	8863	855	30	3	1295	3	LMBRD1	6	70462177	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	31621275	70462177	100652890	31	27974										
KIAA1009	22832	genome.wustl.edu	37	chr6	84884962	84884962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ctgaatacaggaatcagtttCtgtgggattttcagacttct	9	7	4	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr6:84884962C>T	ENST00000403245.3	-	14	1882	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E514K|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAATCAGTTTCTGTGGGATTT	0.313																																																	0													52	49	50					6																	84884962		2095	4071	6166	SO:0001583	missense	22832																														ENST00000403245.3:c.1768G>A	6.37:g.84884962C>T	ENSP00000385215:p.Glu590Lys			Missense_Mutation	SNP	NULL	p.E590K	ENST00000403245.3	37	c.1768	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	6.357	0.433929	0.12045	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.17854	2.25;2.25	5.5	3.62	0.41486	.	0.436669	0.22103	N	0.064594	T	0.07818	0.0196	M	0.63428	1.95	0.09310	N	1	P;P	0.38504	0.634;0.573	B;B	0.38378	0.116;0.272	T	0.13764	-1.0497	10	0.42905	T	0.14	-2.7104	8.3903	0.32524	0.1682:0.6302:0.2016:0.0	.	590;590	Q5TB80;C9JFM9	QN1_HUMAN;.	K	514;590	ENSP00000257766:E514K;ENSP00000385215:E590K	ENSP00000257766:E514K	E	-	1	0	KIAA1009	84941681	0.998000	0.40836	0.018000	0.16275	0.518000	0.34316	2.290000	0.43531	0.686000	0.31488	0.563000	0.77884	GAA	KIAA1009	-	NULL		0.313	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84884962	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	0.138	T	T	84884962	C	T	84884962	3	4	157	1	0	0	0	0	1	0	0	0	8223	922	32	1	2499	1	KIAA1009	6	84884962	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	14422785	84884962	86230105	32	27975										
SYNE1	23345	genome.wustl.edu	37	chr6	152470698	152470698	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gagctcatctagttcctcctCgatgatcgctgcatccaagg	9	13	2	1	rs200752692		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr6:152470698C>A	ENST00000367255.5	-	136	25157	c.24556G>T	c.(24556-24558)Gag>Tag	p.E8186*	SYNE1_ENST00000354674.4_Nonsense_Mutation_p.E341*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.E341*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E2710*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E7798*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E8186*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E8115*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E8115*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8186					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCCTCCTCGATGATCGCT	0.483										HNSCC(10;0.0054)																																							0													135	122	126					6																	152470698		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24556G>T	6.37:g.152470698C>A	ENSP00000356224:p.Glu8186*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E8186*	ENST00000367255.5	37	c.24556	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	49	15.121153	0.99823	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	.	.	.	5.76	4.88	0.63580	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.8719	0.86042	0.0:0.8716:0.1284:0.0	.	.	.	.	X	8186;341;832;8115;8186;8115;7798;2710;348;343;1108;341	.	ENSP00000265368:E8186X	E	-	1	0	SYNE1	152512391	1.000000	0.71417	0.966000	0.40874	0.129000	0.20672	5.901000	0.69861	1.415000	0.47037	0.655000	0.94253	GAG	SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152470698	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152470698	C	A	152470698	4	1	157	1	0	0	0	0	0	1	0	0	15475	893	31	3	1954	3	SYNE1	6	152470698	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	67585736	152470698	18644369	33	27976										
RSPH10B	728194	genome.wustl.edu	37	chr7	6797357	6797357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aaaaaggggagaagtctgccCgctctccctcatctctctct	8	14	5	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr7:6797357C>T	ENST00000403107.1	+	2	436	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R17C|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R17C|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R17C			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	17										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAGTCTGCCCGCTCTCCCTC	0.443																																																	0																																										SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.49C>T	7.37:g.6797357C>T	ENSP00000384766:p.Arg17Cys		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R17C	ENST00000403107.1	37	c.49	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	C	8.174	0.792432	0.16258	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000418406;ENST00000297186;ENST00000433859	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	2.65	2.65	0.31530	.	0.983418	0.08298	N	0.967412	T	0.43700	0.1259	L	0.31926	0.97	0.80722	D	1	B	0.17465	0.022	B	0.12156	0.007	T	0.35674	-0.9779	10	0.54805	T	0.06	.	11.0959	0.48143	0.0:1.0:0.0:0.0	.	17	B2RC85	R10B2_HUMAN	C	17	ENSP00000384766:R17C;ENSP00000386102:R17C;ENSP00000297186:R17C;ENSP00000416710:R17C	ENSP00000297186:R17C	R	+	1	0	RSPH10B2	6763882	0.001000	0.12720	0.922000	0.36590	0.193000	0.23685	0.191000	0.17076	1.494000	0.48533	0.392000	0.25879	CGC	RSPH10B2	-	NULL		0.443	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	C	NM_001099697		6797357	1	no_errors	ENST00000297186	ensembl	human	known	70_37	missense	SNP	0.965	T	T	6797357	C	T	6797357	3	4	157	1	0	0	0	0	1	0	0	0	13733	652	23	2	2740	2	RSPH10B	7	6797357	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		6797357	152341306	34	27977										
VKORC1L1	154807	genome.wustl.edu	37	chr7	65419185	65419185	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gagttctgcatcatctgcatCgtcacgtacgtgctgaactt	9	11	4	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr7:65419185C>T	ENST00000360768.3	+	3	534	c.429C>T	c.(427-429)atC>atT	p.I143I	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.R107C	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	143					cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	TCATCTGCATCGTCACGTACG	0.502																																																	0													194	146	162					7																	65419185		2203	4300	6503	SO:0001819	synonymous_variant	154807				CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.429C>T	7.37:g.65419185C>T			B4E222|E7ETM5|Q6AHW9|Q6TEK6	Missense_Mutation	SNP	pfam_VKOR	p.R107C	ENST00000360768.3	37	c.319	CCDS5529.1	7	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292738	0.40594	.	.	ENSG00000196715	ENST00000434382	D	0.97209	-4.29	5.78	3.96	0.45880	.	.	.	.	.	D	0.93893	0.8046	.	.	.	0.38739	D	0.953854	B	0.13594	0.008	B	0.04013	0.001	D	0.92027	0.5630	8	0.45353	T	0.12	.	9.4913	0.38962	0.0:0.7392:0.1215:0.1394	.	107	E7ETM5	.	C	107	ENSP00000403077:R107C	ENSP00000403077:R107C	R	+	1	0	VKORC1L1	65056620	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	2.975000	0.49281	1.592000	0.50018	0.591000	0.81541	CGT	VKORC1L1	-	NULL		0.502	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VKORC1L1	HGNC	protein_coding	OTTHUMT00000251612.3	C	NM_173517		65419185	1	no_errors	ENST00000434382	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	65419185	C	T	65419185	2	4	157	1	0	0	0	0	0	0	0	1	17204	874	31	1		1	VKORC1L1	7	65419185	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	58621828	65419185	93719478	35	27978										
CALN1	83698	genome.wustl.edu	37	chr7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gatgaaggccatagcaaaggCgcatatgaggctcttccgga	13	9	1	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr7:71252834C>T	ENST00000329008.5	-	6	884	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000395275.2_Missense_Mutation_p.A238T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567																																																	0													128	100	109					7																	71252834		2203	4300	6503	SO:0001583	missense	83698			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.586G>A	7.37:g.71252834C>T	ENSP00000332498:p.Ala196Thr		J3KQA7	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A238T	ENST00000329008.5	37	c.712	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.176133	0.94846	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80123	-1.1;-1.34;-1.1;-1.1;-1.34;-1.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86975	0.2100	10	0.87932	D	0	-25.7589	17.5493	0.87872	0.0:1.0:0.0:0.0	.	196;196	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	196;238;196;196;238;196	ENSP00000332498:A196T;ENSP00000378690:A238T;ENSP00000378691:A196T;ENSP00000410704:A196T;ENSP00000391882:A238T;ENSP00000384354:A196T	ENSP00000332498:A196T	A	-	1	0	CALN1	70890770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GCC	CALN1	-	NULL		0.567	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000320044.2	C	NM_031468		71252834	-1	no_errors	ENST00000395275	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71252834	C	T	71252834	3	4	157	1	0	0	0	0	1	0	0	0	2596	768	27	2	77	2	CALN1	7	71252834	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	5833649	71252834	87885829	36	27979										
SMO	6608	genome.wustl.edu	37	chr7	128845480	128845480	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gtggctgactggcggaactcGaatcgctaccctgctgttat	12	11	0	1	rs373730958		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr7:128845480G>A	ENST00000249373.3	+	4	1057	c.777G>A	c.(775-777)tcG>tcA	p.S259S		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	259					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGCGGAACTCGAATCGCTACC	0.542			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0								G		0,4406		0,0,2203	114	110	111		777	-11.3	0.2	7		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SMO	NM_005631.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		259/788	128845480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.777G>A	7.37:g.128845480G>A			A4D1K5	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S259	ENST00000249373.3	37	c.777	CCDS5811.1	7																																																																																			SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.542	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	G	NM_005631		128845480	1	no_errors	ENST00000249373	ensembl	human	known	70_37	silent	SNP	0.676	A	A	128845480	G	A	128845480	2	1	157	1	0	0	0	0	0	0	0	1	14830	1045	37	1		1	SMO	7	128845480	Silent	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	57592646	128845480	30293183	37	27980										
ATG9B	285973	genome.wustl.edu	37	chr7	150721408	150721408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccggcatgaaggaggaggagGaggtggcagtggcatgggga	22	5	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr7:150721408G>T	ENST00000377974.2	-	1	178	c.103C>A	c.(103-105)Cct>Act	p.P35T	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.P35T|ATG9B_ENST00000605938.1_Missense_Mutation_p.P35T			Q674R7	ATG9B_HUMAN	autophagy related 9B	35	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGAGGAGGAGGTGGCAGT	0.667																																																	0													10	12	11					7																	150721408		1896	4071	5967	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.103C>A	7.37:g.150721408G>T	ENSP00000475005:p.Pro35Thr		A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000377974.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708974	0.68615	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	4.2	4.2	0.49525	.	0.456159	0.16184	N	0.225688	T	0.37320	0.0999	.	.	.	.	.	.	B	0.23058	0.079	B	0.23574	0.047	T	0.42965	-0.9420	7	0.19147	T	0.46	-3.0078	12.2668	0.54683	0.0:0.0:1.0:0.0	.	35	Q674R7	ATG9B_HUMAN	T	35	.	ENSP00000444232:P35T	P	-	1	0	AC010973.1	150352341	1.000000	0.71417	0.991000	0.47740	0.809000	0.45718	2.256000	0.43231	2.337000	0.79520	0.555000	0.69702	CCT	ATG9B	-	-		0.667	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		G	NM_173681		150721408	-1	no_errors	ENST00000377974	ensembl	human	known	70_37	rna	SNP	0.935	T	T	150721408	G	T	150721408	3	4	157	1	0	0	0	0	1	0	0	0	1104	1174	41	3	2722	3	ATG9B	7	150721408	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	21875928	150721408	8417255	38	27981										
FASTK	10922	genome.wustl.edu	37	chr7	150774001	150774001	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccaggccagggccactcaccGgcaggagctggtagcccatc	13	16	1	0	rs374560885		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr7:150774001G>A	ENST00000297532.6	-	9	1618	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000482571.1_Splice_Site_p.P487L|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Splice_Site_p.P373L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	514	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCCACTCACCGGCAGGAGCTG	0.697																																																	0													16	19	18					7																	150774001		2197	4296	6493	SO:0001630	splice_region_variant	10922				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1542+1C>T	7.37:g.150774001G>A			A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.P514L	ENST00000297532.6	37	c.1541	CCDS5918.1	7	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418007	0.62622	.	.	ENSG00000164896	ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.29142	1.98;1.96;1.58	4.44	3.55	0.40652	RAP domain (3);	0.190935	0.34700	N	0.003741	T	0.24236	0.0587	N	0.08118	0	0.80722	D	1	D;B;B	0.71674	0.998;0.008;0.008	P;B;B	0.60682	0.878;0.007;0.007	T	0.06734	-1.0810	10	0.21014	T	0.42	-24.4665	6.2245	0.20700	0.0994:0.0:0.7034:0.1973	.	487;373;514	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	L	373;514;487	ENSP00000324817:P373L;ENSP00000297532:P514L;ENSP00000418516:P487L	ENSP00000297532:P514L	P	-	2	0	FASTK	150404934	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.767000	0.38501	1.173000	0.42796	0.561000	0.74099	CCG	FASTK	-	pfam_RAP,smart_RAP		0.697	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	HGNC	protein_coding	OTTHUMT00000351832.2	G	NM_006712	Missense_Mutation	150774001	-1	no_errors	ENST00000297532	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150774001	G	A	150774001	5	1	157	1	0	0	0	0	0	0	1	0	5702	1130	39	2	116	2	FASTK	7	150774001	Splice_Site	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	52593	150774001	8364662	39	27982										
SLC7A2	6542	genome.wustl.edu	37	chr8	17401053	17401053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cagactcgggccccagcatcGtggtgtccttcctcattgct	10	15	1	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr8:17401053G>A	ENST00000494857.1	+	3	423	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SLC7A2_ENST00000470360.1_Missense_Mutation_p.V109M|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V109M|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V69M|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V109M	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	69					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCCAGCATCGTGGTGTCCTT	0.612																																																	0													66	54	58					8																	17401053		2203	4300	6503	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.205G>A	8.37:g.17401053G>A	ENSP00000419140:p.Val69Met		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease_dom,tigrfam_Cat_AA_permease	p.V109M	ENST00000494857.1	37	c.325	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814490	0.70912	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	5.64	4.77	0.60923	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	L	0.60845	1.875	0.58432	D	0.999997	D;D;D	0.63880	0.993;0.988;0.989	P;P;P	0.62649	0.802;0.572;0.905	D	0.92416	0.5941	10	0.66056	D	0.02	.	12.8721	0.57970	0.1352:0.0:0.8648:0.0	.	109;109;69	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	M	69;69;109;109;109	ENSP00000419140:V69M;ENSP00000430464:V69M;ENSP00000419873:V109M;ENSP00000004531:V109M;ENSP00000381164:V109M	ENSP00000004531:V109M	V	+	1	0	SLC7A2	17445432	1.000000	0.71417	0.098000	0.21074	0.748000	0.42578	7.933000	0.87642	1.542000	0.49330	0.655000	0.94253	GTG	SLC7A2	-	pfam_AA-permease_dom,tigrfam_Cat_AA_permease		0.612	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	G	NM_003046		17401053	1	no_errors	ENST00000004531	ensembl	human	known	70_37	missense	SNP	0.960	A	A	17401053	G	A	17401053	3	1	157	1	0	0	0	0	1	0	0	0	14727	1145	40	2	331	2	SLC7A2	8	17401053	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09		17401053	128962969	40	27983										
MYST3	7994	genome.wustl.edu	37	chr8	41798922	41798922	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tttcactttctactgaataaGaatcttgttctttgttctca	4	8	5	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr8:41798922G>C	ENST00000396930.3	-	16	3020	c.2477C>G	c.(2476-2478)tCt>tGt	p.S826C	KAT6A_ENST00000265713.2_Missense_Mutation_p.S826C|KAT6A_ENST00000406337.1_Missense_Mutation_p.S826C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	826					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TACTGAATAAGAATCTTGTTC	0.358																																																	0													67	66	66					8																	41798922		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2477C>G	8.37:g.41798922G>C	ENSP00000380136:p.Ser826Cys		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S826C	ENST00000396930.3	37	c.2477	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817693	0.32145	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60672	0.17;0.17;0.17	5.67	4.78	0.61160	.	0.286130	0.30126	N	0.010354	T	0.46347	0.1388	L	0.27053	0.805	0.31548	N	0.659126	B	0.06786	0.001	B	0.04013	0.001	T	0.52019	-0.8631	10	0.51188	T	0.08	-7.56	14.9072	0.70730	0.0:0.1427:0.8573:0.0	.	826	Q92794	KAT6A_HUMAN	C	826;826;826;406	ENSP00000265713:S826C;ENSP00000385888:S826C;ENSP00000380136:S826C	ENSP00000265713:S826C	S	-	2	0	KAT6A	41918079	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.578000	0.53892	1.351000	0.45789	0.655000	0.94253	TCT	KAT6A	-	NULL		0.358	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	G	NM_006766		41798922	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41798922	G	C	41798922	3	2	157	1	0	0	0	0	1	0	0	0	10127	942	33	1	3549	1	MYST3	8	41798922	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	24397869	41798922	104565100	41	27984										
SLC46A2	57864	genome.wustl.edu	37	chr9	115652031	115652031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ttggttccaaccgagaggctCcctcagcacaaaaagaggga	11	11	1	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr9:115652031C>T	ENST00000374228.4	-	1	1162	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	311					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCGAGAGGCTCCCTCAGCACA	0.552																																																	0													114	105	108					9																	115652031		2203	4300	6503	SO:0001583	missense	57864			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.931G>A	9.37:g.115652031C>T	ENSP00000363345:p.Glu311Lys		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.E311K	ENST00000374228.4	37	c.931	CCDS6786.1	9	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202095	0.58234	.	.	ENSG00000119457	ENST00000374228	T	0.57907	0.37	5.66	5.66	0.87406	Major facilitator superfamily domain, general substrate transporter (1);	0.531595	0.21208	N	0.078357	T	0.43787	0.1263	L	0.50333	1.59	0.49687	D	0.999811	B	0.30763	0.294	B	0.31614	0.133	T	0.25882	-1.0119	10	0.06625	T	0.88	-15.8422	12.7305	0.57195	0.0:0.9243:0.0:0.0757	.	311	Q9BY10	TSCOT_HUMAN	K	311	ENSP00000363345:E311K	ENSP00000363345:E311K	E	-	1	0	SLC46A2	114691852	0.945000	0.32115	0.992000	0.48379	0.995000	0.86356	0.944000	0.29043	2.683000	0.91414	0.555000	0.69702	GAG	SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.552	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	C	NM_033051		115652031	-1	no_errors	ENST00000374228	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115652031	C	T	115652031	3	4	157	1	0	0	0	0	1	0	0	0	14675	864	30	1	512	1	SLC46A2	9	115652031	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		115652031	25561400	42	27985										
JMJD1C	221037	genome.wustl.edu	37	chr10	64953104	64953104	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	taaccagagatttttactcaCttgagatacaccattcattg	5	9	2	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr10:64953104C>G	ENST00000399262.2	-	15	6081		c.e15+1		JMJD1C_ENST00000402544.1_Splice_Site|JMJD1C_ENST00000542921.1_Splice_Site|JMJD1C_ENST00000399251.1_Splice_Site	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTTACTCACTTGAGATACA	0.284																																																	0													98	88	91					10																	64953104		1791	4060	5851	SO:0001630	splice_region_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5862+1G>C	10.37:g.64953104C>G			A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	SNP	-	e15+1	ENST00000399262.2	37	c.5862+1	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436413	0.62955	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921;ENST00000327520	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3736	0.94500	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD1C	64623110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.809000	0.69172	2.675000	0.91044	0.655000	0.94253	.	JMJD1C	-	-		0.284	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	C	NM_004241	Intron	64953104	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	64953104	C	G	64953104	5	3	157	1	0	0	0	0	0	0	1	0	7970	579	20	4	1807	4	JMJD1C	10	64953104	Splice_Site	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		64953104	70581643	43	27986										
SLC25A16	8034	genome.wustl.edu	37	chr10	70243298	70243298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aaccacgatagagtccttttCgaattccatggtgtccatag	8	10	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr10:70243298C>A	ENST00000609923.1	-	9	988	c.890G>T	c.(889-891)cGa>cTa	p.R297L	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.R199L	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	297					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						GAGTCCTTTTCGAATTCCATG	0.383																																																	0													156	153	154					10																	70243298		2203	4300	6503	SO:0001583	missense	8034			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"Solute carriers"	10986	protein-coding gene	gene with protein product	"Graves disease autoantigen"	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.890G>T	10.37:g.70243298C>A	ENSP00000476815:p.Arg297Leu		Q8N2U1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier	p.R297L	ENST00000609923.1	37	c.890	CCDS7280.1	10	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778435	0.49786	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.78707	-1.2;-1.2	5.67	4.75	0.60458	Mitochondrial carrier domain (2);	0.060409	0.64402	D	0.000003	T	0.75347	0.3837	M	0.74467	2.265	0.50467	D	0.999877	B	0.23540	0.087	B	0.23574	0.047	T	0.69811	-0.5044	10	0.12430	T	0.62	-9.3668	15.016	0.71584	0.0:0.9306:0.0:0.0694	.	297	P16260	GDC_HUMAN	L	297;199	ENSP00000265870:R297L;ENSP00000443914:R199L	ENSP00000265870:R297L	R	-	2	0	SLC25A16	69913304	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.061000	0.49963	2.682000	0.91365	0.555000	0.69702	CGA	SLC25A16	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.383	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A16	HGNC	protein_coding	OTTHUMT00000048347.2	C			70243298	-1	no_errors	ENST00000265870	ensembl	human	known	70_37	missense	SNP	0.997	A	A	70243298	C	A	70243298	3	1	157	1	0	0	0	0	1	0	0	0	14508	884	31	3	112	3	SLC25A16	10	70243298	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	5290194	70243298	65291449	44	27987										
SLC1A2	6506	genome.wustl.edu	37	chr11	35323113	35323113	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	acaatctcattcaaaatgttGaagaaatccaccatcagctt	4	10	3	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr11:35323113G>C	ENST00000278379.3	-	6	1092	c.810C>G	c.(808-810)ttC>ttG	p.F270L	SLC1A2_ENST00000606205.1_Missense_Mutation_p.F270L|SLC1A2_ENST00000395750.1_Missense_Mutation_p.F261L|SLC1A2_ENST00000395753.1_Missense_Mutation_p.F261L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	270				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532). {ECO:0000305}.	adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCAAAATGTTGAAGAAATCCA	0.428																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0													154	128	137					11																	35323113		2202	4298	6500	SO:0001583	missense	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.810C>G	11.37:g.35323113G>C	ENSP00000278379:p.Phe270Leu		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.F270L	ENST00000278379.3	37	c.810	CCDS31459.1	11	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888862	0.91814	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.58060	0.36;0.36;0.36	5.4	5.4	0.78164	.	0.150127	0.64402	D	0.000004	T	0.73265	0.3565	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	0.965;1.0	P;D	0.97110	0.893;1.0	T	0.75147	-0.3420	10	0.62326	D	0.03	-19.9008	19.1734	0.93590	0.0:0.0:1.0:0.0	.	270;270	B4DQE9;P43004	.;EAA2_HUMAN	L	270;261;261	ENSP00000278379:F270L;ENSP00000379099:F261L;ENSP00000379102:F261L	ENSP00000278379:F270L	F	-	3	2	SLC1A2	35279689	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.927000	0.87577	2.539000	0.85634	0.561000	0.74099	TTC	SLC1A2	-	pfam_Na-dicarboxylate_symporter		0.428	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	G	NM_004171		35323113	-1	no_errors	ENST00000278379	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35323113	G	C	35323113	3	2	157	1	0	0	0	0	1	0	0	0	14462	1281	45	1	938	1	SLC1A2	11	35323113	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09		35323113	99683403	45	27988										
MUS81	80198	genome.wustl.edu	37	chr11	65629694	65629694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ggtttcagaatcctaatggtCaccacttcttaaccaaggag	8	10	3	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr11:65629694C>T	ENST00000308110.4	+	5	812	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	CFL1_ENST00000531413.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.H80Y|CFL1_ENST00000534769.1_5'Flank|CFL1_ENST00000525451.2_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	155	Interaction with BLM.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TCCTAATGGTCACCACTTCTT	0.582								Homologous recombination																																									0													86	86	86					11																	65629694		2201	4297	6498	SO:0001583	missense	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.463C>T	11.37:g.65629694C>T	ENSP00000307853:p.His155Tyr		Q9H7D9	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain	p.H155Y	ENST00000308110.4	37	c.463	CCDS8115.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.726599|-1.726599	0.00694|0.00694	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000525768|ENST00000529374;ENST00000530111	T;T;T|.	0.23147|.	2.54;2.77;1.92|.	4.45|4.45	1.25|1.25	0.21368|0.21368	.|.	0.768004|.	0.13044|.	N|.	0.418276|.	T|T	0.32376|0.32376	0.0827|0.0827	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P|.	0.34412|.	0.453|.	B|.	0.24701|.	0.055|.	T|T	0.24835|0.24835	-1.0149|-1.0149	10|5	0.02654|.	T|.	1|.	-0.4907|-0.4907	5.9971|5.9971	0.19499|0.19499	0.1504:0.6505:0.0:0.1991|0.1504:0.6505:0.0:0.1991	.|.	155|.	Q96NY9|.	MUS81_HUMAN|.	Y|L	80;155;155;80|79;50	ENSP00000432287:H80Y;ENSP00000307853:H155Y;ENSP00000431478:H80Y|.	ENSP00000307853:H155Y|.	H|S	+|+	1|2	0|0	MUS81|MUS81	65386270|65386270	0.009000|0.009000	0.17119|0.17119	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.520000|0.520000	0.22878|0.22878	-0.164000|-0.164000	0.10927|0.10927	-1.134000|-1.134000	0.01955|0.01955	CAC|TCA	MUS81	-	NULL		0.582	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	HGNC	protein_coding	OTTHUMT00000390941.3	C	NM_025128		65629694	1	no_errors	ENST00000308110	ensembl	human	known	70_37	missense	SNP	0.006	T	T	65629694	C	T	65629694	3	4	157	1	0	0	0	0	1	0	0	0	10011	826	29	1	481	1	MUS81	11	65629694	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	30306581	65629694	69376822	46	27989										
TPCN2	219931	genome.wustl.edu	37	chr11	68855399	68855399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	agagaggctgagccagcaccCgcacctgtggctgtgcaggt	15	12	0	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr11:68855399C>T	ENST00000294309.3	+	25	2338	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	TPCN2_ENST00000542467.1_Missense_Mutation_p.P564L|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	746					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCCAGCACCCGCACCTGTGG	0.642																																																	0													23	28	27					11																	68855399		2200	4294	6494	SO:0001583	missense	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2237C>T	11.37:g.68855399C>T	ENSP00000294309:p.Pro746Leu		Q9NT82	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.P746L	ENST00000294309.3	37	c.2237	CCDS8189.1	11	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291559	0.40494	.	.	ENSG00000162341	ENST00000294309;ENST00000542467	D;D	0.99691	-4.31;-6.42	4.12	3.19	0.36642	.	0.257695	0.30285	N	0.009971	D	0.99569	0.9845	M	0.78637	2.42	0.38354	D	0.944412	D;D	0.89917	0.993;1.0	P;D	0.69307	0.738;0.963	D	0.98492	1.0610	10	0.87932	D	0	-27.6018	13.6192	0.62128	0.0:0.8426:0.1574:0.0	.	564;746	E7ETX0;Q8NHX9	.;TPC2_HUMAN	L	746;564	ENSP00000294309:P746L;ENSP00000445551:P564L	ENSP00000294309:P746L	P	+	2	0	TPCN2	68611975	0.993000	0.37304	0.375000	0.26029	0.020000	0.10135	3.631000	0.54280	0.853000	0.35312	-0.502000	0.04539	CCG	TPCN2	-	NULL		0.642	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	HGNC	protein_coding	OTTHUMT00000396878.2	C	NM_139075		68855399	1	no_errors	ENST00000294309	ensembl	human	known	70_37	missense	SNP	0.987	T	T	68855399	C	T	68855399	3	4	157	1	0	0	0	0	1	0	0	0	16427	652	23	2	2335	2	TPCN2	11	68855399	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	3225705	68855399	66151117	47	27990										
ATF7IP	55729	genome.wustl.edu	37	chr12	14613980	14613980	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tctatagtccatcaactaatCgaggtcctatacagatgaaa	6	9	2	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr12:14613980C>T	ENST00000540793.1	+	8	2865	c.2710C>T	c.(2710-2712)Cga>Tga	p.R904*	ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R903*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R903*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R912*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R904*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	904					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ATCAACTAATCGAGGTCCTAT	0.453																																																	0													55	52	53					12																	14613980		2203	4300	6503	SO:0001587	stop_gained	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2710C>T	12.37:g.14613980C>T	ENSP00000444589:p.Arg904*		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R904*	ENST00000540793.1	37	c.2710	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.674228	0.98425	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	6.16	6.16	0.99307	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.053	16.3585	0.83245	0.1324:0.8676:0.0:0.0	.	.	.	.	X	904;903;903;912;904	.	.	R	+	1	2	ATF7IP	14505247	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	3.668000	0.54554	2.937000	0.99478	0.650000	0.86243	CGA	ATF7IP	-	NULL		0.453	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	C	NM_018179		14613980	1	no_errors	ENST00000261168	ensembl	human	known	70_37	nonsense	SNP	0.992	T	T	14613980	C	T	14613980	4	4	157	1	0	0	0	0	0	1	0	0	1088	876	31	1	2740	1	ATF7IP	12	14613980	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		14613980	119237915	48	27991										
ARID2	196528	genome.wustl.edu	37	chr12	46245832	46245832	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aagtctacctccttcaaactCagggaaaattcaaagtgaga	7	9	4	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr12:46245832C>G	ENST00000334344.6	+	15	4098	c.3926C>G	c.(3925-3927)tCa>tGa	p.S1309*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1160*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S919*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1309					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTTCAAACTCAGGGAAAATT	0.408			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													49	49	49					12																	46245832		2203	4300	6503	SO:0001587	stop_gained	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3926C>G	12.37:g.46245832C>G	ENSP00000335044:p.Ser1309*		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1309*	ENST00000334344.6	37	c.3926	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	44	10.781055	0.99466	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.4524	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1309;426;426;1160;919	.	ENSP00000335044:S1309X	S	+	2	0	ARID2	44532099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.263000	0.78421	2.884000	0.98904	0.655000	0.94253	TCA	ARID2	-	NULL		0.408	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46245832	1	no_errors	ENST00000334344	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	46245832	C	G	46245832	4	3	157	1	0	0	0	0	0	1	0	0	915	838	29	1	3984	1	ARID2	12	46245832	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	31631852	46245832	87606063	49	27992										
ARID2	196528	genome.wustl.edu	37	chr12	46246080	46246080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	taggaaatggtgagatatctCcaatggaaccacaagggact	11	7	1	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr12:46246080C>G	ENST00000334344.6	+	15	4346	c.4174C>G	c.(4174-4176)Cca>Gca	p.P1392A	ARID2_ENST00000422737.1_Missense_Mutation_p.P1243A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.P1002A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1392					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGATATCTCCAATGGAACC	0.358			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													68	66	66					12																	46246080		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4174C>G	12.37:g.46246080C>G	ENSP00000335044:p.Pro1392Ala		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P1392A	ENST00000334344.6	37	c.4174	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156162	0.21454	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.37235	1.21	6.07	6.07	0.98685	.	0.095343	0.64402	D	0.000001	T	0.28001	0.0690	N	0.24115	0.695	0.80722	D	1	P;P;B	0.36990	0.577;0.577;0.307	B;B;B	0.38264	0.269;0.269;0.138	T	0.03335	-1.1047	10	0.32370	T	0.25	-11.9385	14.2055	0.65732	0.0:0.9239:0.0:0.0761	.	1392;1002;1392	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1392;509;509;1243;1002	ENSP00000335044:P1392A	ENSP00000335044:P1392A	P	+	1	0	ARID2	44532347	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.856000	0.48341	2.884000	0.98904	0.655000	0.94253	CCA	ARID2	-	NULL		0.358	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46246080	1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46246080	C	G	46246080	3	3	157	1	0	0	0	0	1	0	0	0	915	855	30	1	4232	1	ARID2	12	46246080	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	248	46246080	87605815	50	27993										
SMARCC2	6601	genome.wustl.edu	37	chr12	56558435	56558435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	acccaaaggagcattacccgCcacgcctgggtgcccgctgc	11	17	0	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr12:56558435C>T	ENST00000267064.4	-	27	3306	c.3220G>A	c.(3220-3222)Gcg>Acg	p.A1074T	SMARCC2_ENST00000347471.4_Missense_Mutation_p.A1105T|SMARCC2_ENST00000550164.1_Missense_Mutation_p.A1105T|SMARCC2_ENST00000394023.3_Missense_Mutation_p.A1105T|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1074	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCATTACCCGCCACGCCTGGG	0.577																																																	0													45	44	44					12																	56558435		2202	4300	6502	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3220G>A	12.37:g.56558435C>T	ENSP00000267064:p.Ala1074Thr		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.A1074T	ENST00000267064.4	37	c.3220	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022535	0.54683	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.47177	1.13;0.85;0.87;0.85	4.67	4.67	0.58626	.	0.179410	0.36034	N	0.002833	T	0.35128	0.0921	N	0.19112	0.55	0.37604	D	0.92066	P;P;P;P;P	0.38800	0.516;0.648;0.516;0.516;0.648	B;B;B;B;B	0.40285	0.173;0.325;0.173;0.173;0.325	T	0.34004	-0.9846	10	0.34782	T	0.22	-10.2821	13.037	0.58877	0.0:0.8369:0.1631:0.0	.	994;1105;1109;1074;1105	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	T	1105;1105;1105;1074	ENSP00000377591:A1105T;ENSP00000449396:A1105T;ENSP00000302919:A1105T;ENSP00000267064:A1074T	ENSP00000267064:A1074T	A	-	1	0	SMARCC2	54844702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.240000	0.43088	2.528000	0.85240	0.557000	0.71058	GCG	SMARCC2	-	NULL		0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56558435	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56558435	C	T	56558435	3	4	157	1	0	0	0	0	1	0	0	0	14806	739	26	4	432	4	SMARCC2	12	56558435	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	10312355	56558435	77293460	51	27994										
ANAPC7	51434	genome.wustl.edu	37	chr12	110819749	110819749	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gcgtttgctatagaagctgtGacagctggagaaaaaaaaaa	11	5	0	3			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr12:110819749G>C	ENST00000455511.3	-	8	1042	c.1042C>G	c.(1042-1044)Cac>Gac	p.H348D	ANAPC7_ENST00000481473.1_5'Flank|ANAPC7_ENST00000450008.2_Missense_Mutation_p.H348D	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	348					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TAGAAGCTGTGACAGCTGGAG	0.413																																																	0													25	22	23					12																	110819749		2202	4299	6501	SO:0001583	missense	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1042C>G	12.37:g.110819749G>C	ENSP00000394394:p.His348Asp		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H348D	ENST00000455511.3	37	c.1042	CCDS9145.2	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474074	0.84640	.	.	ENSG00000196510	ENST00000455511;ENST00000450008;ENST00000471602;ENST00000548234	T;T	0.58797	0.31;0.66	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	N	0.11201	0.11	0.80722	D	1	D;D	0.57257	0.96;0.979	D;P	0.66979	0.948;0.564	T	0.62402	-0.6862	10	0.36615	T	0.2	-35.408	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348;348	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	D	348;348;41;50	ENSP00000394394:H348D;ENSP00000402314:H348D	ENSP00000402314:H348D	H	-	1	0	ANAPC7	109304132	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAC	ANAPC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.413	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANAPC7	HGNC	protein_coding	OTTHUMT00000347075.3	G	NM_016238		110819749	-1	no_errors	ENST00000455511	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110819749	G	C	110819749	3	2	157	1	0	0	0	0	1	0	0	0	606	1290	45	1	777	1	ANAPC7	12	110819749	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	54261314	110819749	23032146	52	27995										
SOHLH2	54937	genome.wustl.edu	37	chr13	36747844	36747844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ctcacctctcacagcttcatCcaaggagctctctgcatcag	6	16	5	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr13:36747844C>T	ENST00000379881.3	-	9	1073	c.985G>A	c.(985-987)Gat>Aat	p.D329N	SOHLH2_ENST00000554962.1_Missense_Mutation_p.D406N|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.D406N	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	329					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ACAGCTTCATCCAAGGAGCTC	0.552																																																	0													123	110	114					13																	36747844		2203	4300	6503	SO:0001583	missense	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.985G>A	13.37:g.36747844C>T	ENSP00000369210:p.Asp329Asn		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.D406N	ENST00000379881.3	37	c.1216	CCDS9355.1	13	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506887	0.44558	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.34275	1.37;1.37;1.37	5.67	4.82	0.62117	.	0.305226	0.28236	N	0.016089	T	0.39436	0.1078	L	0.59436	1.845	0.21950	N	0.999451	P;P	0.43094	0.799;0.799	B;B	0.42692	0.395;0.395	T	0.37596	-0.9699	10	0.87932	D	0	-3.3844	12.7541	0.57323	0.0:0.8355:0.1645:0.0	.	406;329	B4DX90;Q9NX45	.;SOLH2_HUMAN	N	329;406;406	ENSP00000369210:D329N;ENSP00000451542:D406N;ENSP00000421868:D406N	ENSP00000421868:D406N	D	-	1	0	CCDC169-SOHLH2;SOHLH2	35645844	0.863000	0.29885	0.085000	0.20634	0.138000	0.21146	3.150000	0.50662	1.400000	0.46741	0.462000	0.41574	GAT	SOHLH2	-	NULL		0.552	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	C	NM_017826		36747844	-1	no_errors	ENST00000554962	ensembl	human	known	70_37	missense	SNP	0.587	T	T	36747844	C	T	36747844	3	4	157	1	0	0	0	0	1	0	0	0	14954	855	30	1	304	1	SOHLH2	13	36747844	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		36747844	78422034	53	27996										
NUFIP1	26747	genome.wustl.edu	37	chr13	45515443	45515443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	acatttctttcatgtcgaatGtccggagctagaagctaaaa	8	8	2	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr13:45515443G>T	ENST00000379161.4	-	10	1432	c.1386C>A	c.(1384-1386)gaC>gaA	p.D462E		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	462					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CATGTCGAATGTCCGGAGCTA	0.323																																																	0													59	55	56					13																	45515443		2203	4300	6503	SO:0001583	missense	26747			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1386C>A	13.37:g.45515443G>T	ENSP00000368459:p.Asp462Glu		Q8WVM5|Q96SG1	Missense_Mutation	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D462E	ENST00000379161.4	37	c.1386	CCDS9393.1	13	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938326	0.34189	.	.	ENSG00000083635	ENST00000379161	T	0.54279	0.58	5.37	2.58	0.30949	.	0.045768	0.85682	D	0.000000	T	0.61800	0.2376	L	0.60904	1.88	0.43714	D	0.996189	D	0.76494	0.999	D	0.76071	0.987	T	0.55704	-0.8099	10	0.30078	T	0.28	.	7.0875	0.25266	0.3068:0.0:0.6932:0.0	.	462	Q9UHK0	NUFP1_HUMAN	E	462	ENSP00000368459:D462E	ENSP00000368459:D462E	D	-	3	2	NUFIP1	44413443	1.000000	0.71417	0.998000	0.56505	0.477000	0.33069	1.608000	0.36847	0.288000	0.22398	-0.241000	0.12123	GAC	NUFIP1	-	NULL		0.323	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2	G	NM_012345		45515443	-1	no_errors	ENST00000379161	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45515443	G	T	45515443	3	4	157	1	0	0	0	0	1	0	0	0	10772	1368	48	4	105	4	NUFIP1	13	45515443	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	8767599	45515443	69654435	54	27997										
GPC5	2262	genome.wustl.edu	37	chr13	92380901	92380901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cacaaggaacagtgaagagaCgcttgccaacagaagaaagt	11	8	0	4	rs138581416		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr13:92380901C>T	ENST00000377067.3	+	4	1508	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	379					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGTGAAGAGACGCTTGCCAAC	0.398													C|||	1	0.000199681	8e-04	0	5008	,	,		15022	0		0	False		,,,				2504	0																0								C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	119	124	122		1136	4.1	1	13	dbSNP_134	122	0,8600		0,0,4300	yes	missense	GPC5	NM_004466.4	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	379/573	92380901	2,13004	2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1136C>T	13.37:g.92380901C>T	ENSP00000366267:p.Thr379Met		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.T379M	ENST00000377067.3	37	c.1136	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358204	0.61403	4.54E-4	0.0	ENSG00000179399	ENST00000377067	T	0.59224	0.28	5.88	4.1	0.47936	.	0.436426	0.25604	N	0.029537	T	0.67069	0.2854	M	0.73962	2.25	0.33440	D	0.582257	D	0.58620	0.983	P	0.55260	0.772	T	0.78254	-0.2275	10	0.87932	D	0	-0.2407	9.3761	0.38283	0.0:0.7808:0.1434:0.0759	.	379	P78333	GPC5_HUMAN	M	379	ENSP00000366267:T379M	ENSP00000366267:T379M	T	+	2	0	GPC5	91178902	0.967000	0.33354	1.000000	0.80357	0.925000	0.55904	2.211000	0.42825	1.499000	0.48617	0.557000	0.71058	ACG	GPC5	-	pfam_Glypican		0.398	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	C	NM_004466		92380901	1	no_errors	ENST00000377067	ensembl	human	known	70_37	missense	SNP	0.992	T	T	92380901	C	T	92380901	3	4	157	1	0	0	0	0	1	0	0	0	6620	536	19	2	1150	2	GPC5	13	92380901	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	46865458	92380901	22788977	55	27998										
NOVA1	4857	genome.wustl.edu	37	chr14	27066575	27066575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gcggccttttccgcgagtccGgcgggtccaggtctatggga	16	12	1	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr14:27066575G>A	ENST00000344429.5	-	1	71	c.68C>T	c.(67-69)cCg>cTg	p.P23L	NOVA1_ENST00000547619.1_Missense_Mutation_p.P23L|NOVA1_ENST00000574031.1_Missense_Mutation_p.P23L|NOVA1_ENST00000551754.1_5'Flank|NOVA1_ENST00000267422.7_5'UTR|NOVA1-AS1_ENST00000547786.1_RNA|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000465357.2_Missense_Mutation_p.P23L|NOVA1_ENST00000539517.2_Missense_Mutation_p.P23L	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	23					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCGCGAGTCCGGCGGGTCCAG	0.662																																																	0													11	12	12					14																	27066575		2196	4284	6480	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.68C>T	14.37:g.27066575G>A	ENSP00000342387:p.Pro23Leu		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P23L	ENST00000344429.5	37	c.68	CCDS9635.1	14	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112931	0.37242	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000344429;ENST00000547619	T;T;T;T	0.52057	1.42;1.47;0.68;0.72	3.73	3.73	0.42828	.	0.000000	0.43416	D	0.000573	T	0.32556	0.0833	L	0.34521	1.04	0.80722	D	1	B;B;P	0.36249	0.181;0.272;0.545	B;B;B	0.17979	0.015;0.009;0.02	T	0.39375	-0.9617	10	0.54805	T	0.06	-0.9152	15.043	0.71805	0.0:0.0:1.0:0.0	.	23;23;23	P51513-2;D3DS81;P51513-4	.;.;.	L	23	ENSP00000447391:P23L;ENSP00000438875:P23L;ENSP00000342387:P23L;ENSP00000448157:P23L	ENSP00000342387:P23L	P	-	2	0	NOVA1	26136415	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.294000	0.78760	2.094000	0.63399	0.555000	0.69702	CCG	NOVA1	-	NULL		0.662	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000276557.1	G	NM_006491		27066575	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27066575	G	A	27066575	3	1	157	1	0	0	0	0	1	0	0	0	10578	1116	39	2	1506	2	NOVA1	14	27066575	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09		27066575	80282965	56	27999										
DACT1	51339	genome.wustl.edu	37	chr14	59113812	59113812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cctcaagaagaagatcctccGctttcggtctggctctttga	9	12	3	4			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr14:59113812G>A	ENST00000335867.4	+	4	2495	c.2471G>A	c.(2470-2472)cGc>cAc	p.R824H	DACT1_ENST00000395153.3_Missense_Mutation_p.R787H|DACT1_ENST00000541264.2_Missense_Mutation_p.R543H|DACT1_ENST00000556859.1_Missense_Mutation_p.R543H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	824					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGATCCTCCGCTTTCGGTCT	0.448																																																	0													113	118	116					14																	59113812		2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2471G>A	14.37:g.59113812G>A	ENSP00000337439:p.Arg824His		A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.R824H	ENST00000335867.4	37	c.2471	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759142	0.89843	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85392	0.1126	10	0.87932	D	0	-20.2693	20.422	0.99049	0.0:0.0:1.0:0.0	.	787;824	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	H	543;543;787;824;543	ENSP00000451598:R543H;ENSP00000378581:R543H;ENSP00000378582:R787H;ENSP00000337439:R824H;ENSP00000442850:R543H	ENSP00000337439:R824H	R	+	2	0	DACT1	58183565	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.455000	0.97625	2.832000	0.97577	0.655000	0.94253	CGC	DACT1	-	NULL		0.448	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	G	NM_016651		59113812	1	no_errors	ENST00000335867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59113812	G	A	59113812	3	1	157	1	0	0	0	0	1	0	0	0	4227	1087	38	2	2485	2	DACT1	14	59113812	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	32047237	59113812	48235728	57	28000										
BATF	10538	genome.wustl.edu	37	chr14	76012949	76012949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccagcacgccctcgccccccGaggtggtgtacagcgcccac	11	20	0	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr14:76012949G>A	ENST00000286639.6	+	3	571	c.313G>A	c.(313-315)Gag>Aag	p.E105K	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	105					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CTCGCCCCCCGAGGTGGTGTA	0.657																																																	0													37	28	31					14																	76012949		2200	4300	6500	SO:0001583	missense	10538			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.313G>A	14.37:g.76012949G>A	ENSP00000286639:p.Glu105Lys			Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E105K	ENST00000286639.6	37	c.313	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650912	0.67472	.	.	ENSG00000156127	ENST00000286639	T	0.78481	-1.18	5.33	5.33	0.75918	.	0.153676	0.56097	D	0.000025	T	0.64114	0.2569	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.39419	0.299	T	0.64141	-0.6477	10	0.11485	T	0.65	-1.5992	17.2289	0.86979	0.0:0.0:1.0:0.0	.	105	Q16520	BATF_HUMAN	K	105	ENSP00000286639:E105K	ENSP00000286639:E105K	E	+	1	0	BATF	75082702	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	8.127000	0.89593	2.495000	0.84180	0.655000	0.94253	GAG	BATF	-	NULL		0.657	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1	G	NM_006399		76012949	1	no_errors	ENST00000286639	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76012949	G	A	76012949	3	1	157	1	0	0	0	0	1	0	0	0	1326	1059	37	1	323	1	BATF	14	76012949	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	16899137	76012949	31336591	58	28001										
GALC	2581	genome.wustl.edu	37	chr14	88452831	88452831	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cattgcaaacttcatttcttAccaatgagtgtaatattggg	7	7	2	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr14:88452831A>G	ENST00000261304.2	-	4	549		c.e4+1		GALC_ENST00000393568.4_Splice_Site|GALC_ENST00000544807.2_Splice_Site|GALC_ENST00000554916.1_Splice_Site|GALC_ENST00000393569.2_Splice_Site	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase						carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCATTTCTTACCAATGAGTG	0.358																																																	0													139	128	131					14																	88452831		1872	4110	5982	SO:0001630	splice_region_variant	2581			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.442+1T>C	14.37:g.88452831A>G			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Splice_Site	SNP	-	e4+2	ENST00000261304.2	37	c.442+2	CCDS9878.2	14	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185077	0.78677	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000393568;ENST00000445021	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3922	0.66986	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GALC	87522584	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	8.865000	0.92300	2.044000	0.60594	0.374000	0.22700	.	GALC	-	-		0.358	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	HGNC	protein_coding	OTTHUMT00000071559.2	A		Intron	88452831	-1	no_errors	ENST00000261304	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	88452831	A	G	88452831	5	3	157	1	0	0	0	0	0	0	1	0	6220	405	14	5	1732	5	GALC	14	88452831	Splice_Site	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09	12439882	88452831	18896709	59	28002										
C14orf68	283600	genome.wustl.edu	37	chr14	100792566	100792566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	atacgtatcaccgagagcgcGtaggtctggggccaggggct	16	10	2	1	rs367820954		TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr14:100792566G>A	ENST00000361529.3	+	3	222		c.e3+1		SLC25A47_ENST00000557052.1_Splice_Site	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCGAGAGCGCGTAGGTCTGGG	0.657																																					GBM(11;1289 1351)												0													45	38	40					14																	100792566		2203	4300	6503	SO:0001630	splice_region_variant	283600				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.144+1G>A	14.37:g.100792566G>A			B2RP39|Q68CL2|Q6PZD8|Q86U14	Splice_Site	SNP	-	e3+1	ENST00000361529.3	37	c.144+1	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049572	0.36181	.	.	ENSG00000140107	ENST00000361529	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7221	0.88355	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A47	99862319	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	5.803000	0.69129	2.709000	0.92574	0.511000	0.50034	.	SLC25A47	-	-		0.657	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	G		Intron	100792566	1	no_errors	ENST00000361529	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	100792566	G	A	100792566	5	1	157	1	0	0	0	0	0	0	1	0	1782	1159	40	2	155	2	C14orf68	14	100792566	Splice_Site	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	12339735	100792566	6556974	60	28003										
IL16	3603	genome.wustl.edu	37	chr15	81517900	81517900	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tttccttggcccagggcaagGagggaattttccactcatct	10	11	2	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr15:81517900G>C	ENST00000302987.4	+	1	160	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	IL16_ENST00000394660.2_Missense_Mutation_p.E54Q			Q14005	IL16_HUMAN	interleukin 16	54					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAGGGCAAGGAGGGAATTTT	0.542																																																	0													82	82	82					15																	81517900		2014	4193	6207	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.160G>C	15.37:g.81517900G>C	ENSP00000302935:p.Glu54Gln		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16	p.E54Q	ENST00000302987.4	37	c.160	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651775	0.47362	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.17528	2.28;2.27	3.97	3.97	0.46021	.	0.189501	0.25590	N	0.029632	T	0.34221	0.0890	M	0.65975	2.015	0.80722	D	1	P;D	0.57899	0.769;0.981	B;P	0.55999	0.282;0.789	T	0.22871	-1.0204	10	0.56958	D	0.05	.	16.2407	0.82405	0.0:0.0:1.0:0.0	.	54;54	Q14005;Q14005-2	IL16_HUMAN;.	Q	54;96;54;54	ENSP00000378155:E54Q;ENSP00000302935:E54Q	ENSP00000302935:E54Q	E	+	1	0	IL16	79304955	1.000000	0.71417	0.965000	0.40720	0.264000	0.26372	4.337000	0.59310	2.043000	0.60533	0.563000	0.77884	GAG	IL16	-	NULL		0.542	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	G	NM_172217		81517900	1	no_errors	ENST00000302987	ensembl	human	known	70_37	missense	SNP	0.997	C	C	81517900	G	C	81517900	3	2	157	1	0	0	0	0	1	0	0	0	7653	1175	41	1	162	1	IL16	15	81517900	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09		81517900	21013492	61	28004										
TPSD1	23430	genome.wustl.edu	37	chr16	1306681	1306681	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tgctaaccgcggcgcactgcGtggaaccgtgagtctcctgg	14	13	1	1	rs1141967	byFrequency	TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr16:1306681A>C	ENST00000211076.3	+	2	395	c.247A>C	c.(247-249)Atg>Ctg	p.M83L	TPSD1_ENST00000397534.2_Missense_Mutation_p.M76L|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	83	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		V -> M (in dbSNP:rs3993987). {ECO:0000269|PubMed:12391231, ECO:0000269|PubMed:18854315, ECO:0000269|PubMed:9920877}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGCGCACTGCGTGGAACCGTG	0.706																																																	0													39	47	44					16																	1306681		2199	4298	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.247A>C	16.37:g.1306681A>C	ENSP00000211076:p.Met83Leu		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V83L	ENST00000211076.3	37	c.247	CCDS10432.1	16																																																																																			TPSD1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.706	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	HGNC	protein_coding	OTTHUMT00000250320.2	A			1306681	1	no_errors	ENST00000211076	ensembl	human	known	70_37	missense	SNP	0.026	C	C	1306681	A	C	1306681	3	2	157	1	0	0	0	0	1	0	0	0	16456	1145	40	2	253	2	TPSD1	16	1306681	Missense_Mutation	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09		1306681	89048072	62	28005										
A2BP1	54715	genome.wustl.edu	37	chr16	7760713	7760713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ttcattgcaggctagtatatAccgagggggatacaaccgtt	11	8	1	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr16:7760713A>G	ENST00000550418.1	+	16	2148	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C	RBFOX1_ENST00000311745.5_Missense_Mutation_p.Y408C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Y360C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Y387C|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000340209.4_Missense_Mutation_p.Y392C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.Y382C	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	387					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCTAGTATATACCGAGGGGGA	0.448																																					Ovarian(157;934 2567 15163 39509)												0													185	163	171					16																	7760713		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1160A>G	16.37:g.7760713A>G	ENSP00000450031:p.Tyr387Cys		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.Y408C	ENST00000550418.1	37	c.1223	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717321	0.30413	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T;T	0.38401	1.14;1.3;1.14;1.23;1.2;1.15	5.95	5.95	0.96441	.	0.060595	0.64402	D	0.000002	T	0.42337	0.1198	N	0.14661	0.345	0.80722	D	1	D;B;P;B;B	0.76494	0.999;0.028;0.482;0.074;0.076	D;B;B;B;B	0.65443	0.935;0.016;0.222;0.072;0.071	T	0.39354	-0.9618	10	0.38643	T	0.18	-7.3233	16.4221	0.83766	1.0:0.0:0.0:0.0	.	381;408;382;360;387	F8WAC5;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.;.;.;RFOX1_HUMAN	C	387;360;387;382;408;381;392	ENSP00000450031:Y387C;ENSP00000447753:Y360C;ENSP00000447717:Y387C;ENSP00000402745:Y382C;ENSP00000309117:Y408C;ENSP00000344196:Y392C	ENSP00000309117:Y408C	Y	+	2	0	RBFOX1	7700714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.535000	0.90623	2.283000	0.76528	0.496000	0.49642	TAC	RBFOX1	-	NULL		0.448	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	A	NM_145891		7760713	1	no_errors	ENST00000311745	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7760713	A	G	7760713	3	3	157	1	0	0	0	0	1	0	0	0	3	391	14	5	1405	5	A2BP1	16	7760713	Missense_Mutation	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09	6454032	7760713	82594040	63	28006										
TMC5	79838	genome.wustl.edu	37	chr16	19451964	19451964	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tcaatccatacgcagactctCtgggaaagcctgattatcca	7	12	2	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr16:19451964C>T	ENST00000396229.2	+	3	1353	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	TMC5_ENST00000541464.1_Silent_p.L202L|TMC5_ENST00000381414.4_Silent_p.L202L|TMC5_ENST00000542583.2_Silent_p.L202L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	202					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGCAGACTCTCTGGGAAAGCC	0.473																																																	0													76	75	75					16																	19451964		1998	4188	6186	SO:0001819	synonymous_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.604C>T	16.37:g.19451964C>T			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	pfam_TMC	p.L202	ENST00000396229.2	37	c.604	CCDS45431.1	16																																																																																			TMC5	-	NULL		0.473	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	C	NM_024780		19451964	1	no_errors	ENST00000396229	ensembl	human	known	70_37	silent	SNP	0.000	T	T	19451964	C	T	19451964	2	4	157	1	0	0	0	0	0	0	0	1	16018	912	32	1		1	TMC5	16	19451964	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	11691251	19451964	70902789	64	28007										
SRCAP	10847	genome.wustl.edu	37	chr16	30736067	30736067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ctgactttggctccagcatcGtcatctgcttcactcctggc	8	15	3	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr16:30736067G>A	ENST00000262518.4	+	25	5707	c.5322G>A	c.(5320-5322)tcG>tcA	p.S1774S	SRCAP_ENST00000344771.4_Silent_p.S1616S|SRCAP_ENST00000395059.2_Silent_p.S1712S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1774	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ctccagcatcgtcatctgctt	0.647																																																	0													53	44	47					16																	30736067		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5322G>A	16.37:g.30736067G>A			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S1774	ENST00000262518.4	37	c.5322	CCDS10689.2	16																																																																																			SRCAP	-	NULL		0.647	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30736067	1	no_errors	ENST00000262518	ensembl	human	known	70_37	silent	SNP	0.198	A	A	30736067	G	A	30736067	2	1	157	1	0	0	0	0	0	0	0	1	15165	1132	40	2		2	SRCAP	16	30736067	Silent	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	11284103	30736067	59618686	65	28008										
PLEKHG4	25894	genome.wustl.edu	37	chr16	67322304	67322304	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gggcggccagccctctttgaGtatgtctgggcctagccaga	14	12	2	2			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr16:67322304G>T	ENST00000360461.5	+	19	5989		c.e19+1		PLEKHG4_ENST00000379344.3_Splice_Site|PLEKHG4_ENST00000427155.2_Splice_Site|PLEKHG4_ENST00000450733.1_Splice_Site	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCTCTTTGAGTATGTCTGGG	0.637																																																	0													43	46	45					16																	67322304		2198	4300	6498	SO:0001630	splice_region_variant	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.3454+1G>T	16.37:g.67322304G>T			Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Splice_Site	SNP	-	e19+1	ENST00000360461.5	37	c.3454+1	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743787	0.69418	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0105	0.86405	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG4	65879805	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.184000	0.94893	2.243000	0.73865	0.462000	0.41574	.	PLEKHG4	-	-		0.637	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	G	NM_015432	Intron	67322304	1	no_errors	ENST00000360461	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	67322304	G	T	67322304	5	4	157	1	0	0	0	0	0	0	1	0	12095	1043	36	4	3529	4	PLEKHG4	16	67322304	Splice_Site	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	36586237	67322304	23032449	66	28009										
LRRC50	123872	genome.wustl.edu	37	chr16	84199549	84199549	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aaagacagagagagagtcaaGagagaggtatgcgctcggcc	15	7	1	5			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr16:84199549G>C	ENST00000378553.5	+	7	1148	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.E342Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	342					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGAGAGTCAAGAGAGAGGTAT	0.502																																																	0													134	126	129					16																	84199549		2200	4300	6500	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1024G>C	16.37:g.84199549G>C	ENSP00000367815:p.Glu342Gln		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.E342Q	ENST00000378553.5	37	c.1024	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408234	0.42715	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.35236	1.32;1.73	5.66	4.69	0.59074	.	0.130034	0.49916	D	0.000132	T	0.33177	0.0854	L	0.38175	1.15	0.30726	N	0.747727	P;P	0.45715	0.865;0.639	B;B	0.42555	0.391;0.155	T	0.26087	-1.0113	10	0.37606	T	0.19	-14.9223	16.2457	0.82445	0.0:0.1331:0.8669:0.0	.	90;342	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	Q	342	ENSP00000334593:E342Q;ENSP00000367815:E342Q	ENSP00000334593:E342Q	E	+	1	0	DNAAF1	82757050	0.999000	0.42202	0.004000	0.12327	0.001000	0.01503	3.500000	0.53318	1.381000	0.46364	-0.181000	0.13052	GAG	DNAAF1	-	NULL		0.502	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	G	NM_178452		84199549	1	no_errors	ENST00000378553	ensembl	human	known	70_37	missense	SNP	0.704	C	C	84199549	G	C	84199549	3	2	157	1	0	0	0	0	1	0	0	0	9032	943	33	1	1050	1	LRRC50	16	84199549	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	16877245	84199549	6155204	67	28010										
MYO15A	51168	genome.wustl.edu	37	chr17	18023395	18023395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccccacaacccgtatgcccaCgccatggatgacatcgccga	8	18	0	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr17:18023395C>T	ENST00000205890.5	+	2	1619	c.1281C>T	c.(1279-1281)caC>caT	p.H427H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	427					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTATGCCCACGCCATGGATG	0.667																																																	0													48	55	52					17																	18023395		2118	4219	6337	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1281C>T	17.37:g.18023395C>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.H427	ENST00000205890.5	37	c.1281	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.667	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18023395	1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.996	T	T	18023395	C	T	18023395	2	4	157	1	0	0	0	0	0	0	0	1	10086	535	19	2		2	MYO15A	17	18023395	Silent	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		18023395	63171815	68	28011										
CBX8	57332	genome.wustl.edu	37	chr17	77768758	77768758	+	Frame_Shift_Del	DEL	G	G	-													0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gccctgtgctttatcaccctGgccgggaaggtgtccacagc							TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr17:77768758delG	ENST00000269385.4	-	5	963	c.846delC	c.(844-846)gccfs	p.A282fs	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	282					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTATCACCCTGGCCGGGAAGG	0.652																																																	0													30	29	29					17																	77768758		2202	4299	6501	SO:0001589	frameshift_variant	57332			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.846delC	17.37:g.77768758delG	ENSP00000269385:p.Ala282fs		Q96H39|Q9NR07	Frame_Shift_Del	DEL	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.R283fs	ENST00000269385.4	37	c.846	CCDS11765.1	17																																																																																			CBX8	-	NULL		0.652	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	G	NM_020649		77768758	-1	no_errors	ENST00000269385	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	77768758	G	-	77768758	7	5	157	1	0	1	0	1	0	0	0	0	2729	1357	47	0	302	0	CBX8	17	77768758	Frame_Shift_Del	DEL	G	TCGA-JW-A5VI-01A-11D-A28B-09	59745363	77768758	3426452	69	28012										
PIP5K1C	23396	genome.wustl.edu	37	chr19	3653299	3653299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	agccctcaccaggcagtcccGctgcagcgtcttgaccaggg	12	16	2	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:3653299G>A	ENST00000335312.3	-	7	998	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R304W|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R304W|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R304W|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.R304W(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCAGTCCCGCTGCAGCGTC	0.706																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												1	Substitution - Missense(1)	stomach(1)											32	24	27					19																	3653299		2202	4290	6492	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.910C>T	19.37:g.3653299G>A	ENSP00000335333:p.Arg304Trp		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R304W	ENST00000335312.3	37	c.910	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897628	0.52121	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.38077	1.16;1.16;1.16	4.57	3.5	0.40072	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	H	0.97103	3.94	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.79784	0.968;0.993	T	0.79398	-0.1820	10	0.87932	D	0	-20.7707	11.5951	0.50968	0.0:0.0:0.7132:0.2867	.	304;304	O60331-3;O60331	.;PI51C_HUMAN	W	304	ENSP00000335333:R304W;ENSP00000445992:R304W;ENSP00000444779:R304W	ENSP00000335333:R304W	R	-	1	2	PIP5K1C	3604299	1.000000	0.71417	0.999000	0.59377	0.409000	0.31022	2.509000	0.45459	2.075000	0.62263	0.491000	0.48974	CGG	PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.706	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	G	NM_012398		3653299	-1	no_errors	ENST00000537021	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3653299	G	A	3653299	3	1	157	1	0	0	0	0	1	0	0	0	11965	1086	38	2	1144	2	PIP5K1C	19	3653299	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09		3653299	55475684	70	28013										
COL5A3	50509	genome.wustl.edu	37	chr19	10088308	10088308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tgcagggccaacggggccttCgctgccactttggccaggaa	14	13	0	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:10088308C>T	ENST00000264828.3	-	42	3173	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1030	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACGGGGCCTTCGCTGCCACTT	0.622																																																	0													28	28	28					19																	10088308		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3088G>A	19.37:g.10088308C>T	ENSP00000264828:p.Glu1030Lys		Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E1030K	ENST00000264828.3	37	c.3088	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277682	0.59758	.	.	ENSG00000080573	ENST00000264828	D	0.95756	-3.8	4.84	3.78	0.43462	.	0.786745	0.11250	N	0.583694	D	0.87309	0.6145	N	0.03209	-0.39	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.72151	-0.4377	10	0.15952	T	0.53	.	13.0027	0.58685	0.0:0.3108:0.6892:0.0	.	1030	P25940	CO5A3_HUMAN	K	1030	ENSP00000264828:E1030K	ENSP00000264828:E1030K	E	-	1	0	COL5A3	9949308	0.794000	0.28838	0.954000	0.39281	0.116000	0.19942	3.120000	0.50430	0.628000	0.30357	-0.120000	0.15030	GAA	COL5A3	-	NULL		0.622	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	C	NM_015719		10088308	-1	no_errors	ENST00000264828	ensembl	human	known	70_37	missense	SNP	0.147	T	T	10088308	C	T	10088308	3	4	157	1	0	0	0	0	1	0	0	0	3703	893	31	1	2253	1	COL5A3	19	10088308	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	6435009	10088308	49040675	71	28014										
CARM1	10498	genome.wustl.edu	37	chr19	11015736	11015736	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tgcaacagcgtcctcatccaGttcgccacacccaacggtac	7	17	1	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:11015736G>C	ENST00000327064.4	+	2	520	c.330G>C	c.(328-330)caG>caC	p.Q110H	CARM1_ENST00000344150.4_Missense_Mutation_p.Q110H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	110					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCCTCATCCAGTTCGCCACAC	0.617																																																	0													218	151	174					19																	11015736		2203	4300	6503	SO:0001583	missense	10498			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.330G>C	19.37:g.11015736G>C	ENSP00000325690:p.Gln110His		A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.Q110H	ENST00000327064.4	37	c.330	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934832	0.52866	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.27890	1.65;1.64	5.31	4.26	0.50523	Histone-arginine methyltransferase CARM1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	N	0.19112	0.55	0.58432	D	0.999994	B	0.26002	0.139	B	0.29716	0.106	T	0.07177	-1.0786	10	0.48119	T	0.1	-3.1879	13.1986	0.59754	0.0806:0.0:0.9194:0.0	.	110	Q86X55	CARM1_HUMAN	H	110	ENSP00000325690:Q110H;ENSP00000340934:Q110H	ENSP00000325690:Q110H	Q	+	3	2	CARM1	10876736	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.823000	0.62694	2.478000	0.83669	0.561000	0.74099	CAG	CARM1	-	pfam_Histone-Arg_MeTrfase_N		0.617	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	G	XM_032719		11015736	1	no_errors	ENST00000327064	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11015736	G	C	11015736	3	2	157	1	0	0	0	0	1	0	0	0	2660	1020	36	4	336	4	CARM1	19	11015736	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	927428	11015736	48113247	72	28015										
ZNF791	163049	genome.wustl.edu	37	chr19	12734618	12734619	+	Frame_Shift_Ins	INS	-	-	T													0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gagatgtgatgcaggaaacaINSttcaagaacctggcatctat							TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:12734618_12734619insT	ENST00000343325.4	+	2	270_271	c.108_109insT	c.(109-111)ttcfs	p.F37fs	ZNF791_ENST00000540038.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Ins_p.F5fs|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Frame_Shift_Ins_p.F37fs	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGCAGGAAACATTCAAGAACCT	0.446																																																	0																																										SO:0001589	frameshift_variant	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.110dupT	19.37:g.12734620_12734620dupT	ENSP00000342974:p.Phe37fs		B7Z586|Q8NC99	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K37fs	ENST00000343325.4	37	c.108_109	CCDS12273.1	19																																																																																			ZNF791	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.446	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	NM_153358		12734619	1	no_errors	ENST00000343325	ensembl	human	known	70_37	frame_shift_ins	INS	0.638:0.608	T	T	12734619	-	T	12734618	7	5	157	1	0	1	1	0	0	0	0	0	18193	204	8	0	114	0	ZNF791	19	12734618	Frame_Shift_Ins	INS	-	TCGA-JW-A5VI-01A-11D-A28B-09	1718882	12734618	46394365	73	28016										
ZNF714	148206	genome.wustl.edu	37	chr19	21300204	21300204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccattcttcacaccttactaCacataaggtaattcatactg	3	12	3	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:21300204C>T	ENST00000596143.1	+	5	1059	c.734C>T	c.(733-735)aCa>aTa	p.T245I	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CACCTTACTACACATAAGGTA	0.398																																																	0													34	36	35					19																	21300204		2178	4295	6473	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.734C>T	19.37:g.21300204C>T	ENSP00000472368:p.Thr245Ile		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T245I	ENST00000596143.1	37	c.734	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	8.112	0.778931	0.16120	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.02	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24851	0.0603	N	0.12887	0.27	0.09310	N	1	B;P;D	0.57571	0.066;0.833;0.98	B;P;P	0.62740	0.033;0.582;0.906	T	0.10753	-1.0616	8	0.37606	T	0.19	.	2.0826	0.03638	0.3699:0.2318:0.0:0.3983	.	246;245;246	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	I	245	.	ENSP00000291770:T245I	T	+	2	0	ZNF714	21092044	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-6.571000	0.00061	-0.529000	0.06358	-0.538000	0.04264	ACA	ZNF714	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	C	NM_182515		21300204	1	no_errors	ENST00000596143	ensembl	human	known	70_37	missense	SNP	0.001	T	T	21300204	C	T	21300204	3	4	157	1	0	0	0	0	1	0	0	0	18148	478	17	4	744	4	ZNF714	19	21300204	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	8565586	21300204	37828779	74	28017										
ZNF526	116115	genome.wustl.edu	37	chr19	42729913	42729913	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gtgctccaagtcctttgcctCagcttcccggctgtcccggc	10	17	1	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:42729913C>T	ENST00000301215.3	+	3	1583	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TCCTTTGCCTCAGCTTCCCGG	0.682																																																	0													32	34	33					19																	42729913		2202	4298	6500	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1358C>T	19.37:g.42729913C>T	ENSP00000301215:p.Ser453Leu		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S453L	ENST00000301215.3	37	c.1358	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141506	0.37825	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.79141	-1.24	4.76	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.348369	0.22087	N	0.064801	T	0.65396	0.2687	L	0.28115	0.83	0.09310	N	1	P	0.48589	0.912	B	0.44315	0.446	T	0.56902	-0.7902	10	0.11794	T	0.64	-11.8669	12.9581	0.58442	0.2868:0.7132:0.0:0.0	.	453	Q8TF50	ZN526_HUMAN	L	309;453	ENSP00000301215:S453L	ENSP00000301215:S453L	S	+	2	0	ZNF526	47421753	0.000000	0.05858	0.002000	0.10522	0.934000	0.57294	0.053000	0.14184	0.701000	0.31803	0.650000	0.86243	TCA	ZNF526	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	C	XM_057401		42729913	1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	0.157	T	T	42729913	C	T	42729913	3	4	157	1	0	0	0	0	1	0	0	0	17997	838	29	1	1360	1	ZNF526	19	42729913	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	21429709	42729913	16399070	75	28018										
KCNJ14	3770	genome.wustl.edu	37	chr19	48965361	48965361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	cccgccaccgcccgcgccctGcttctcacacgtggccagct	9	22	1	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:48965361G>T	ENST00000391884.1	+	1	856	c.380G>T	c.(379-381)tGc>tTc	p.C127F	KCNJ14_ENST00000342291.2_Missense_Mutation_p.C127F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	127					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCCGCGCCCTGCTTCTCACAC	0.706																																					NSCLC(148;170 3504 35216)												0													13	10	11					19																	48965361		2182	4270	6452	SO:0001583	missense	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.380G>T	19.37:g.48965361G>T	ENSP00000375756:p.Cys127Phe			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.C127F	ENST00000391884.1	37	c.380	CCDS12721.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526104	0.85600	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.97378	-4.36;-4.36	4.69	4.69	0.59074	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99053	1.0828	10	0.87932	D	0	.	15.5066	0.75745	0.0:0.0:1.0:0.0	.	127	Q9UNX9	IRK14_HUMAN	F	127	ENSP00000341479:C127F;ENSP00000375756:C127F	ENSP00000341479:C127F	C	+	2	0	KCNJ14	53657173	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.786000	0.99046	2.323000	0.78572	0.591000	0.81541	TGC	KCNJ14	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.706	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	G	NM_013348		48965361	1	no_errors	ENST00000342291	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48965361	G	T	48965361	3	4	157	1	0	0	0	0	1	0	0	0	8068	1319	46	4	382	4	KCNJ14	19	48965361	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	6235448	48965361	10163622	76	28019										
MED25	81857	genome.wustl.edu	37	chr19	50338793	50338793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccctctctccccgtgcagatGgggggacagcaggcaccccc	12	18	1	1	rs369006637	byFrequency	TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:50338793G>T	ENST00000312865.6	+	15	1730	c.1677G>T	c.(1675-1677)atG>atT	p.M559I	MED25_ENST00000538643.1_Missense_Mutation_p.M346I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	559					cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCGTGCAGATGGGGGGACAGC	0.657																																					GBM(51;894 1657 37868)												0													9	8	9					19																	50338793		2175	4252	6427	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1677G>T	19.37:g.50338793G>T	ENSP00000326767:p.Met559Ile		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.M559I	ENST00000312865.6	37	c.1677	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	g	11.21	1.570341	0.28003	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000536547	T;T	0.78481	-1.18;-1.15	5.7	2.19	0.27852	.	0.224748	0.43416	D	0.000562	T	0.60573	0.2279	L	0.27053	0.805	0.28846	N	0.896311	P;B;B	0.42078	0.77;0.0;0.001	B;B;B	0.37091	0.241;0.0;0.001	T	0.58951	-0.7545	10	0.56958	D	0.05	.	7.4085	0.27004	0.0868:0.3231:0.5901:0.0	.	346;559;559	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	I	559;559;559;559;559;346;294;48	ENSP00000326767:M559I;ENSP00000437496:M346I	ENSP00000326767:M559I	M	+	3	0	MED25	55030605	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	1.784000	0.38674	0.754000	0.32968	0.447000	0.29281	ATG	MED25	-	NULL		0.657	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	G	NM_030973		50338793	1	no_errors	ENST00000312865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50338793	G	T	50338793	3	4	157	1	0	0	0	0	1	0	0	0	9466	1348	47	4	1735	4	MED25	19	50338793	Missense_Mutation	SNP	G	TCGA-JW-A5VI-01A-11D-A28B-09	1373432	50338793	8790190	77	28020										
LILRB3	11025	genome.wustl.edu	37	chr19	54726628	54726628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	gacagactcacctgcctgcaCgcgggtcctggggcccagac	13	16	1	2	rs200758022	byFrequency	TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr19:54726628C>T	ENST00000391750.1	-	3	197	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000346401.6_Missense_Mutation_p.V21M|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.V21M|LILRB3_ENST00000424807.1_Missense_Mutation_p.V21M|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	21			V -> M (in dbSNP:rs1132588).		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGCCTGCACGCGGGTCCTG	0.657																																																	0													2	2	2					19																	54726628		1163	2749	3912	SO:0001583	missense	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.61G>A	19.37:g.54726628C>T	ENSP00000375630:p.Val21Met		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V21M	ENST00000391750.1	37	c.61	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	C	7.872	0.728256	0.15507	.	.	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000445347	T;T;T;T;T	0.00522	7.06;7.06;7.02;7.05;6.84	2.9	0.662	0.17880	Immunoglobulin-like fold (1);	0.896200	0.09207	N	0.833786	T	0.00998	0.0033	M	0.71296	2.17	0.09310	N	1	D;P	0.67145	0.996;0.944	P;P	0.58620	0.842;0.606	T	0.50906	-0.8772	10	0.51188	T	0.08	.	4.0591	0.09831	0.0:0.6121:0.2464:0.1415	.	21;21	O75022;O75022-3	LIRB3_HUMAN;.	M	21	ENSP00000375630:V21M;ENSP00000412771:V21M;ENSP00000345184:V21M;ENSP00000245620:V21M;ENSP00000388199:V21M	ENSP00000245620:V21M	V	-	1	0	LILRB3	59418440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.246000	0.08878	0.274000	0.22072	-0.241000	0.12123	GTG	LILRB3	-	NULL		0.657	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	C	NM_006864		54726628	-1	no_errors	ENST00000346401	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54726628	C	T	54726628	3	4	157	1	0	0	0	0	1	0	0	0	8812	536	19	2	1885	2	LILRB3	19	54726628	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	4387835	54726628	4402355	78	28021										
DSCAM	1826	genome.wustl.edu	37	chr21	41516627	41516627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	aacctatttggtagccacggAtaatcccattttgcaaatgt	7	9	0	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chr21:41516627A>G	ENST00000400454.1	-	17	3527	c.3050T>C	c.(3049-3051)aTc>aCc	p.I1017T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1017	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTAGCCACGGATAATCCCATT	0.463																																					Melanoma(134;970 1778 1785 21664 32388)												0													81	77	78					21																	41516627		1964	4157	6121	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3050T>C	21.37:g.41516627A>G	ENSP00000383303:p.Ile1017Thr		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1017T	ENST00000400454.1	37	c.3050	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339119	0.81911	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.62364	0.03;0.03	5.0	5.0	0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051152	0.85682	D	0.000000	T	0.81772	0.4893	H	0.96576	3.845	0.44562	D	0.997522	B	0.33904	0.431	P	0.46237	0.508	D	0.85959	0.1469	10	0.87932	D	0	.	14.7334	0.69399	1.0:0.0:0.0:0.0	.	1017	O60469	DSCAM_HUMAN	T	1017;769	ENSP00000383303:I1017T;ENSP00000385342:I769T	ENSP00000383303:I1017T	I	-	2	0	DSCAM	40438497	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.092000	0.94157	1.878000	0.54408	0.456000	0.33151	ATC	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	A	NM_001389		41516627	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41516627	A	G	41516627	3	3	157	1	0	0	0	0	1	0	0	0	4778	333	12	5	3056	5	DSCAM	21	41516627	Missense_Mutation	SNP	A	TCGA-JW-A5VI-01A-11D-A28B-09		41516627	6613268	79	28022										
OFD1	8481	genome.wustl.edu	37	chrX	13778396	13778396	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	tctagcacgtatggttgcatCaaggatcacaaattatccaa	7	9	3	0			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chrX:13778396C>G	ENST00000340096.6	+	16	2144	c.1817C>G	c.(1816-1818)tCa>tGa	p.S606*	OFD1_ENST00000380550.3_Nonsense_Mutation_p.S566*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Nonsense_Mutation_p.S466*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	606					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATGGTTGCATCAAGGATCACA	0.428																																																	0													172	138	150					X																	13778396		2203	4300	6503	SO:0001587	stop_gained	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1817C>G	X.37:g.13778396C>G	ENSP00000344314:p.Ser606*		B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.S606*	ENST00000340096.6	37	c.1817	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	45	11.896877	0.99615	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	.	.	.	5.55	4.67	0.58626	.	0.463335	0.22239	N	0.062720	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.707	14.5384	0.67976	0.0:0.8568:0.1432:0.0	.	.	.	.	X	566;606;466	.	ENSP00000344314:S606X	S	+	2	0	OFD1	13688317	0.186000	0.23225	0.002000	0.10522	0.046000	0.14306	2.300000	0.43620	1.104000	0.41587	0.529000	0.55759	TCA	OFD1	-	NULL		0.428	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	C	NM_003611		13778396	1	no_errors	ENST00000340096	ensembl	human	known	70_37	nonsense	SNP	0.147	G	G	13778396	C	G	13778396	4	3	157	1	0	0	0	0	0	1	0	0	10862	838	29	1	1879	1	OFD1	23	13778396	Nonsense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09		13778396	141492164	80	28023										
EIF1AX	1964	genome.wustl.edu	37	chrX	20156734	20156734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225	18	0.00143231379924665	2.21917808219178	4.78646253021757	1.20420516087926	0.329980270793735	0.569890847767481	10	ccctgcgtctgtttttacctCctttacctgatggtttaaaa	6	11	1	1			TCGA-JW-A5VI-01A-11D-A28B-09	TCGA-JW-A5VI-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3fa0d743-1312-4aa6-967d-7ec81af780cd	4cf0c64a-057d-4e79-85f2-dffc58753ffd	g.chrX:20156734C>T	ENST00000379607.5	-	2	226	c.23G>A	c.(22-24)gGa>gAa	p.G8E	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GTTTTTACCTCCTTTACCTGA	0.313																																																	0													139	129	132					X																	20156734		2203	4300	6503	SO:0001583	missense	1964			L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.23G>A	X.37:g.20156734C>T	ENSP00000368927:p.Gly8Glu		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold-like,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A	p.G8E	ENST00000379607.5	37	c.23	CCDS14196.1	X	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627537	0.66901	.	.	ENSG00000173674	ENST00000379607	T	0.47869	0.83	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79100	0.4389	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	D	0.86654	0.1900	9	0.72032	D	0.01	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	E	8	ENSP00000368927:G8E	ENSP00000368927:G8E	G	-	2	0	EIF1AX	20066655	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA	EIF1AX	-	superfamily_NA-bd_OB-fold-like		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1AX	HGNC	protein_coding	OTTHUMT00000058913.1	C			20156734	-1	no_errors	ENST00000379607	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20156734	C	T	20156734	3	4	157	1	0	0	0	0	1	0	0	0	5002	855	30	1	435	1	EIF1AX	23	20156734	Missense_Mutation	SNP	C	TCGA-JW-A5VI-01A-11D-A28B-09	6378338	20156734	135113826	81	28024										
TAS1R3	83756	genome.wustl.edu	37	chr1	1267263	1267263	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggctgtcatcgggccccactCgtcagagctcgccatggtca	12	15	3	1	rs373465255		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:1267263C>A	ENST00000339381.5	+	2	469	c.437C>A	c.(436-438)tCg>tAg	p.S146*		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	146					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGGCCCCACTCGTCAGAGCTC	0.662																																																	0													41	46	44					1																	1267263		2200	4297	6497	SO:0001587	stop_gained	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.437C>A	1.37:g.1267263C>A	ENSP00000344411:p.Ser146*		Q5TA49|Q8NGW9	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S146*	ENST00000339381.5	37	c.437	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990002	0.54041	.	.	ENSG00000169962	ENST00000339381	.	.	.	4.63	4.63	0.57726	.	0.769292	0.11567	N	0.551151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.8226	0.46614	0.1436:0.7171:0.1393:0.0	.	.	.	.	X	146	.	ENSP00000344411:S146X	S	+	2	0	TAS1R3	1257126	.	.	0.836000	0.33094	0.153000	0.21895	.	.	2.133000	0.65898	0.561000	0.74099	TCG	TAS1R3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.662	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	C			1267263	1	no_errors	ENST00000339381	ensembl	human	known	70_37	nonsense	SNP	0.085	A	A	1267263	C	A	1267263	4	1	158	1	0	0	0	0	0	1	0	0	15594	893	31	3	443	3	TAS1R3	1	1267263	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		1267263	247983358	1	28025										
CAMTA1	23261	genome.wustl.edu	37	chr1	7724159	7724159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acatccggcactcgccacccGgggagcggagcttcagcttt	12	15	1	0	rs140699847		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:7724159G>A	ENST00000303635.7	+	9	1759	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G518R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCGCCACCCGGGGAGCGGAG	0.597			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0									ARG/GLY	0,4406		0,0,2203	52	56	55		1552	5	0	1	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMTA1	NM_015215.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	518/1674	7724159	1,13005	2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1552G>A	1.37:g.7724159G>A	ENSP00000306522:p.Gly518Arg		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G518R	ENST00000303635.7	37	c.1552	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	1.316	-0.600933	0.03744	0.0	1.16E-4	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.20463	2.07;2.07	4.96	4.96	0.65561	.	0.749252	0.13010	N	0.420929	T	0.11110	0.0271	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.13926	-1.0491	10	0.30078	T	0.28	-2.5881	4.4848	0.11785	0.1714:0.0:0.6365:0.1921	.	518	Q9Y6Y1	CMTA1_HUMAN	R	518	ENSP00000306522:G518R;ENSP00000402561:G518R	ENSP00000306522:G518R	G	+	1	0	CAMTA1	7646746	0.104000	0.21937	0.008000	0.14137	0.065000	0.16274	1.784000	0.38674	2.313000	0.78055	0.493000	0.49557	GGG	CAMTA1	-	NULL		0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724159	1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	0.010	A	A	7724159	G	A	7724159	3	1	158	1	0	0	0	0	1	0	0	0	2618	1116	39	2	1586	2	CAMTA1	1	7724159	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	6456896	7724159	241526462	2	28026										
TNFRSF8	943	genome.wustl.edu	37	chr1	12183349	12183349	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcccctctgcagatatggctGagaaggacaccacctttgag	10	12	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:12183349G>A	ENST00000263932.2	+	9	1177	c.955G>A	c.(955-957)Gag>Aag	p.E319K	TNFRSF8_ENST00000413146.2_5'Flank|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E208K	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	319					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGATATGGCTGAGAAGGACAC	0.632																																																	0													33	32	33					1																	12183349		2203	4300	6503	SO:0001583	missense	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.955G>A	1.37:g.12183349G>A	ENSP00000263932:p.Glu319Lys		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.E319K	ENST00000263932.2	37	c.955	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121751	0.37436	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06687	3.27;3.27	3.0	1.05	0.20165	.	32.982500	0.00166	N	0.000000	T	0.07593	0.0191	L	0.39147	1.195	0.09310	N	1	P;B	0.44734	0.842;0.264	B;B	0.37731	0.257;0.132	T	0.26916	-1.0089	10	0.29301	T	0.29	-10.6031	3.4317	0.07430	0.1388:0.0:0.6088:0.2524	.	208;319	D3YTD8;P28908	.;TNR8_HUMAN	K	319;208	ENSP00000263932:E319K;ENSP00000390650:E208K	ENSP00000263932:E319K	E	+	1	0	TNFRSF8	12105936	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.936000	0.28938	0.306000	0.22856	0.561000	0.74099	GAG	TNFRSF8	-	NULL		0.632	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12183349	1	no_errors	ENST00000263932	ensembl	human	known	70_37	missense	SNP	0.001	A	A	12183349	G	A	12183349	3	1	158	1	0	0	0	0	1	0	0	0	16329	1291	45	1	989	1	TNFRSF8	1	12183349	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	4459190	12183349	237067272	3	28027										
TAS1R2	80834	genome.wustl.edu	37	chr1	19180914	19180914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tagctctggctggtcctgctGaggggtggcggcccagcctg	17	12	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:19180914G>A	ENST00000375371.3	-	3	1071	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	350					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGTCCTGCTGAGGGGTGGCG	0.637																																																	0													80	75	77					1																	19180914		2203	4300	6503	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1050C>T	1.37:g.19180914G>A			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L350	ENST00000375371.3	37	c.1050	CCDS187.1	1																																																																																			TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19180914	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	silent	SNP	0.000	A	A	19180914	G	A	19180914	2	1	158	1	0	0	0	0	0	0	0	1	15593	1277	45	1		1	TAS1R2	1	19180914	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	6997565	19180914	230069707	4	28028										
KIAA0090	23065	genome.wustl.edu	37	chr1	19550021	19550021	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggtgcgctcatggtgcgcgtCtgtgctctctgtcaccacgg	14	13	4	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:19550021C>A	ENST00000477853.1	-	19	2287	c.2245G>T	c.(2245-2247)Gac>Tac	p.D749Y	EMC1_ENST00000375199.3_Missense_Mutation_p.D748Y|EMC1_ENST00000480380.1_5'Flank|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.D727Y	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	749						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGGTGCGCGTCTGTGCTCTCT	0.542																																																	0													162	135	144					1																	19550021		2203	4300	6503	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2245G>T	1.37:g.19550021C>A	ENSP00000420608:p.Asp749Tyr		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.D749Y	ENST00000477853.1	37	c.2245	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.587029|3.587029	0.66105|0.66105	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.27557|.	1.66;1.66;1.66|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76877|0.76877	0.4049|0.4049	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.937;0.971;1.0;1.0|.	P;P;D;D|.	0.76575|.	0.748;0.804;0.988;0.972|.	T|T	0.75869|0.75869	-0.3165|-0.3165	10|5	0.66056|.	D|.	0.02|.	-24.7626|-24.7626	18.3722|18.3722	0.90411|0.90411	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	727;748;748;749|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	Y|I	749;748;727|482	ENSP00000420608:D749Y;ENSP00000364345:D748Y;ENSP00000364354:D727Y|.	ENSP00000364345:D748Y|.	D|R	-|-	1|2	0|0	KIAA0090|KIAA0090	19422608|19422608	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.127000|0.127000	0.20565|0.20565	7.487000|7.487000	0.81328|0.81328	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GAC|AGA	EMC1	-	NULL		0.542	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	C	NM_015047		19550021	-1	no_errors	ENST00000477853	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19550021	C	A	19550021	3	1	158	1	0	0	0	0	1	0	0	0	8173	913	32	3	756	3	KIAA0090	1	19550021	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	369107	19550021	229700600	5	28029										
COL8A2	1296	genome.wustl.edu	37	chr1	36563680	36563680	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	atgccagtctcatcgaaggcCccaggggcaccagggggtcc	14	14	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:36563680C>A	ENST00000397799.1	-	4	1826	c.1602G>T	c.(1600-1602)ggG>ggT	p.G534G	COL8A2_ENST00000303143.4_Silent_p.G534G|COL8A2_ENST00000481785.1_Silent_p.G469G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	534	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATCGAAGGCCCCAGGGGCAC	0.751																																																	0													7	9	8					1																	36563680		2107	4173	6280	SO:0001819	synonymous_variant	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1602G>T	1.37:g.36563680C>A			Q5JV31|Q8TEJ5	Silent	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G534	ENST00000397799.1	37	c.1602	CCDS403.1	1																																																																																			COL8A2	-	pfam_Collagen		0.751	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	HGNC	protein_coding	OTTHUMT00000313674.1	C	NM_005202		36563680	-1	no_errors	ENST00000303143	ensembl	human	known	70_37	silent	SNP	0.760	A	A	36563680	C	A	36563680	2	1	158	1	0	0	0	0	0	0	0	1	3711	610	22	4		4	COL8A2	1	36563680	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	17013659	36563680	212686941	6	28030										
CSF3R	1441	genome.wustl.edu	37	chr1	36933545	36933545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggaggacaaagccacgggagGaggcattcaggatggcggct	18	8	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:36933545G>A	ENST00000373106.1	-	14	2289	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.S581F|CSF3R_ENST00000373104.1_Missense_Mutation_p.S581F|CSF3R_ENST00000338937.5_Missense_Mutation_p.S581F|CSF3R_ENST00000373103.1_Missense_Mutation_p.S581F|CSF3R_ENST00000361632.4_Missense_Mutation_p.S581F|CSF3R_ENST00000440588.2_Missense_Mutation_p.S581F|CSF3R_ENST00000418048.2_Missense_Mutation_p.S581F	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	581	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCCACGGGAGGAGGCATTCAG	0.632																																																	0													53	63	59					1																	36933545		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1742C>T	1.37:g.36933545G>A	ENSP00000362198:p.Ser581Phe			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S581F	ENST00000373106.1	37	c.1742	CCDS413.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.478984|2.478984	0.44044|0.44044	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	.|T;T;T;T;T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.738828	.|0.13986	.|N	.|0.349170	T|T	0.76227|0.76227	0.3958|0.3958	M|M	0.71581|0.71581	2.175|2.175	0.39493|0.39493	D|D	0.968079|0.968079	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;0.999	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.987;0.987	T|T	0.77611|0.77611	-0.2523|-0.2523	5|10	.|0.72032	.|D	.|0.01	-29.8063|-29.8063	16.159|16.159	0.81683|0.81683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|581;581;581;581;581;581	.|Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.|.;.;.;CSF3R_HUMAN;.;.	S|F	133|581	.|ENSP00000362198:S581F;ENSP00000362196:S581F;ENSP00000362195:S581F;ENSP00000355406:S581F;ENSP00000332180:S581F;ENSP00000401588:S581F;ENSP00000345013:S581F;ENSP00000397568:S581F	.|ENSP00000332180:S581F	P|S	-|-	1|2	0|0	CSF3R|CSF3R	36706132|36706132	1.000000|1.000000	0.71417|0.71417	0.672000|0.672000	0.29872|0.29872	0.028000|0.028000	0.11728|0.11728	5.900000|5.900000	0.69853|0.69853	2.491000|2.491000	0.84063|0.84063	0.650000|0.650000	0.86243|0.86243	CCT|TCC	CSF3R	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	G	NM_156039		36933545	-1	no_errors	ENST00000373103	ensembl	human	known	70_37	missense	SNP	0.981	A	A	36933545	G	A	36933545	3	1	158	1	0	0	0	0	1	0	0	0	3942	1174	41	1	974	1	CSF3R	1	36933545	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	369865	36933545	212317076	7	28031										
MACF1	23499	genome.wustl.edu	37	chr1	39801471	39801471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcagctctaaacaggccaatGaaggaaaagtaaacaattta	7	7	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:39801471G>A	ENST00000372915.3	+	36	9313	c.9226G>A	c.(9226-9228)Gaa>Aaa	p.E3076K	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3108K|MACF1_ENST00000289893.4_Missense_Mutation_p.E1511K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.E3071K|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3076					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGGCCAATGAAGGAAAAGT	0.383																																																	0													41	46	44					1																	39801471		2201	4299	6500	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9226G>A	1.37:g.39801471G>A	ENSP00000362006:p.Glu3076Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3108K	ENST00000372915.3	37	c.9322		1	.	.	.	.	.	.	.	.	.	.	G	6.746	0.506376	0.12883	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62941	-0.01;1.1	5.16	3.15	0.36227	.	1.477850	0.04066	N	0.307152	T	0.51193	0.1660	N	0.24115	0.695	0.22903	N	0.998584	B	0.02656	0.0	B	0.04013	0.001	T	0.42766	-0.9432	10	0.62326	D	0.03	.	8.4203	0.32696	0.0:0.1682:0.6576:0.1741	.	3076	Q9UPN3	MACF1_HUMAN	K	3076;1511	ENSP00000362006:E3076K;ENSP00000289893:E1511K	ENSP00000289893:E1511K	E	+	1	0	MACF1	39574058	0.977000	0.34250	0.055000	0.19348	0.404000	0.30871	2.181000	0.42547	1.120000	0.41904	0.467000	0.42956	GAA	MACF1	-	superfamily_RNaseH-like_dom		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39801471	1	no_errors	ENST00000567887	ensembl	human	putative	70_37	missense	SNP	0.125	A	A	39801471	G	A	39801471	3	1	158	1	0	0	0	0	1	0	0	0	9167	1291	45	1	9302	1	MACF1	1	39801471	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2867926	39801471	209449150	8	28032										
PTPRF	5792	genome.wustl.edu	37	chr1	44063670	44063670	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgtgggtgcgggcacacacaGacgtgggccccggccccgag	17	14	0	1	rs201745531	byFrequency	TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:44063670G>A	ENST00000359947.4	+	12	2405	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	PTPRF_ENST00000422171.2_Intron|PTPRF_ENST00000372413.3_Missense_Mutation_p.D689N|PTPRF_ENST00000372414.3_Missense_Mutation_p.D689N|PTPRF_ENST00000438120.1_Missense_Mutation_p.D689N	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	689	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCACACACAGACGTGGGCCC	0.701																																																	0													29	31	30					1																	44063670		2126	4166	6292	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2065G>A	1.37:g.44063670G>A	ENSP00000353030:p.Asp689Asn		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.D689N	ENST00000359947.4	37	c.2065	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005334	0.54254	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	3.36	3.36	0.38483	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59824	0.2222	L	0.42581	1.335	0.80722	D	1	P;D;D;B	0.71674	0.482;0.979;0.998;0.444	P;P;D;P	0.63703	0.497;0.777;0.917;0.486	T	0.55425	-0.8143	9	0.19147	T	0.46	.	15.0753	0.72071	0.0:0.0:1.0:0.0	.	345;448;689;689	Q59FI2;Q5W9G3;P10586-2;P10586	.;.;.;PTPRF_HUMAN	N	689	ENSP00000353030:D689N;ENSP00000398822:D689N;ENSP00000361491:D689N;ENSP00000361490:D689N	ENSP00000353030:D689N	D	+	1	0	PTPRF	43836257	1.000000	0.71417	0.997000	0.53966	0.775000	0.43874	6.398000	0.73244	1.613000	0.50231	0.313000	0.20887	GAC	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44063670	1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	0.998	A	A	44063670	G	A	44063670	3	1	158	1	0	0	0	0	1	0	0	0	12831	942	33	1	2103	1	PTPRF	1	44063670	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	4262199	44063670	205186951	9	28033										
IPO13	9670	genome.wustl.edu	37	chr1	44433134	44433134	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cctctgcccgcctcagccctGaacagaaggataccttcagc	8	17	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:44433134G>C	ENST00000372343.3	+	19	3423	c.2761G>C	c.(2761-2763)Gaa>Caa	p.E921Q	DPH2_ENST00000255108.3_5'Flank|DPH2_ENST00000412950.2_5'Flank|IPO13_ENST00000372339.3_Missense_Mutation_p.E139Q|DPH2_ENST00000396758.2_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	921					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTCAGCCCTGAACAGAAGGA	0.617																																																	0													33	35	34					1																	44433134		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2761G>C	1.37:g.44433134G>C	ENSP00000361418:p.Glu921Gln		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E921Q	ENST00000372343.3	37	c.2761	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965312	0.53507	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.31120	0.905	0.80722	D	1	P;B	0.39883	0.693;0.11	B;B	0.31751	0.135;0.04	T	0.23440	-1.0188	9	0.19147	T	0.46	-22.364	17.6936	0.88276	0.0:0.0:1.0:0.0	.	139;921	Q5T4X2;O94829	.;IPO13_HUMAN	Q	921;139	.	ENSP00000361414:E139Q	E	+	1	0	IPO13	44205721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.693000	0.98684	2.151000	0.67156	0.450000	0.29827	GAA	IPO13	-	NULL		0.617	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	G	NM_014652		44433134	1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44433134	G	C	44433134	3	2	158	1	0	0	0	0	1	0	0	0	7814	1291	45	1	2835	1	IPO13	1	44433134	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	369464	44433134	204817487	10	28034										
MOBKL2C	148932	genome.wustl.edu	37	chr1	47078756	47078756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gctggtctcactgcagcgctCcgccatagtgccgtagatga	12	13	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:47078756C>G	ENST00000319928.3	-	2	468	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.E132Q|MOB3C_ENST00000371940.1_Missense_Mutation_p.E103Q|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	80							metal ion binding (GO:0046872)										CTGCAGCGCTCCGCCATAGTG	0.662																																																	0													81	61	68					1																	47078756		2203	4300	6503	SO:0001583	missense	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.238G>C	1.37:g.47078756C>G	ENSP00000315113:p.Glu80Gln		D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.E132Q	ENST00000319928.3	37	c.394	CCDS540.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642855	0.87859	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	M	0.94063	3.49	0.80722	D	1	D	0.55605	0.972	P	0.59889	0.865	D	0.89186	0.3547	9	0.87932	D	0	-38.9417	17.8765	0.88826	0.0:1.0:0.0:0.0	.	80	Q70IA8	MOB3C_HUMAN	Q	80;132;103	.	ENSP00000271139:E132Q	E	-	1	0	MOBKL2C	46851343	1.000000	0.71417	0.902000	0.35471	0.296000	0.27459	7.805000	0.86005	2.467000	0.83353	0.563000	0.77884	GAG	MOB3C	-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.662	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		C	NM_145279		47078756	-1	no_errors	ENST00000271139	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47078756	C	G	47078756	3	3	158	1	0	0	0	0	1	0	0	0	9709	864	30	1	424	1	MOBKL2C	1	47078756	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	2645622	47078756	202171865	11	28035										
YIPF1	54432	genome.wustl.edu	37	chr1	54325793	54325793	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agtagctgtagttgttgggaGatggtccatctctggtgcat	14	6	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:54325793G>A	ENST00000072644.1	-	10	1201	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	YIPF1_ENST00000371399.1_Missense_Mutation_p.L106F|YIPF1_ENST00000539954.1_Missense_Mutation_p.L314F	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	289						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTGTTGGGAGATGGTCCATC	0.438																																																	0													133	120	124					1																	54325793		2203	4300	6503	SO:0001583	missense	54432			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"Yip1 domain family"	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.865C>T	1.37:g.54325793G>A	ENSP00000072644:p.Leu289Phe		B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	pfam_Yip1,superfamily_Ribonuclease/ribotoxin	p.L314F	ENST00000072644.1	37	c.940	CCDS584.1	1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134280	0.37630	.	.	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954	.	.	.	5.06	4.15	0.48705	.	0.566181	0.16025	N	0.233134	T	0.36799	0.0980	L	0.40543	1.245	0.30960	N	0.723801	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	9	0.27785	T	0.31	-45.3277	9.4936	0.38976	0.1614:0.0:0.8386:0.0	.	289	Q9Y548	YIPF1_HUMAN	F	106;289;314	.	ENSP00000072644:L289F	L	-	1	0	YIPF1	54098381	0.905000	0.30787	0.973000	0.42090	0.904000	0.53231	1.145000	0.31577	1.358000	0.45922	0.655000	0.94253	CTC	YIPF1	-	NULL		0.438	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF1	HGNC	protein_coding	OTTHUMT00000022103.5	G	NM_018982		54325793	-1	no_errors	ENST00000539954	ensembl	human	known	70_37	missense	SNP	0.914	A	A	54325793	G	A	54325793	3	1	158	1	0	0	0	0	1	0	0	0	17508	942	33	1	59	1	YIPF1	1	54325793	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7247037	54325793	194924828	12	28036										
TMEM59	9528	genome.wustl.edu	37	chr1	54509139	54509139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gagtccatcatgtcactccaGaatgacctcaccagagttag	8	12	3	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:54509139G>A	ENST00000234831.5	-	4	699	c.450C>T	c.(448-450)ttC>ttT	p.F150F	TMEM59_ENST00000371344.1_Silent_p.F19F|TMEM59_ENST00000371348.1_Silent_p.F19F|TMEM59_ENST00000371341.1_Silent_p.F19F	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	150					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGTCACTCCAGAATGACCTCA	0.358																																																	0													67	70	69					1																	54509139		2203	4300	6503	SO:0001819	synonymous_variant	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.450C>T	1.37:g.54509139G>A			B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.F150	ENST00000234831.5	37	c.450	CCDS586.1	1																																																																																			TMEM59	-	pfam_Uncharacterised_TMEM59		0.358	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	G	NM_004872		54509139	-1	no_errors	ENST00000234831	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54509139	G	A	54509139	2	1	158	1	0	0	0	0	0	0	0	1	16215	933	33	1		1	TMEM59	1	54509139	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	183346	54509139	194741482	13	28037										
LPPR4	9890	genome.wustl.edu	37	chr1	99771315	99771315	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agagacgccctcaggtctctGacagacctcaatcaagatcc	8	14	4	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:99771315G>A	ENST00000370185.3	+	7	1538	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	LPPR4_ENST00000370184.1_Silent_p.L189L|LPPR4_ENST00000457765.1_Silent_p.L289L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		347					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCAGGTCTCTGACAGACCTCA	0.458																																																	0													153	150	151					1																	99771315		2203	4300	6503	SO:0001819	synonymous_variant	9890																														ENST00000370185.3:c.1041G>A	1.37:g.99771315G>A			E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L347	ENST00000370185.3	37	c.1041	CCDS757.1	1																																																																																			LPPR4	-	NULL		0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_genename	protein_coding	OTTHUMT00000029670.2	G			99771315	1	no_errors	ENST00000370185	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99771315	G	A	99771315	2	1	158	1	0	0	0	0	0	0	0	1	8950	1277	45	1		1	LPPR4	1	99771315	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	45262176	99771315	149479306	14	28038										
RNPC3	55599	genome.wustl.edu	37	chr1	104068792	104068792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaacccttctggtcaggcacCtgccggctgagcttactgct	11	14	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:104068792C>T	ENST00000533099.1	+	2	336	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	RP11-153F1.1_ENST00000447322.2_RNA|RNPC3_ENST00000423855.2_Silent_p.L34L|RP11-153F1.1_ENST00000444810.1_RNA|RNPC3_ENST00000524631.1_Silent_p.L34L|RN7SKP285_ENST00000410137.1_RNA			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	34	Necessary for interaction with PDCD7.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		GGTCAGGCACCTGCCGGCTGA	0.617																																																	0													41	40	40					1																	104068792		692	1591	2283	SO:0001819	synonymous_variant	55599			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"RNA binding motif (RRM) containing"	18666	protein-coding gene	gene with protein product	"U11/U12 snRNP 65K"					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.100C>T	1.37:g.104068792C>T			A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L34	ENST00000533099.1	37	c.100	CCDS781.1	1																																																																																			RNPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.617	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	C	NM_017619		104068792	1	no_errors	ENST00000423855	ensembl	human	known	70_37	silent	SNP	1.000	T	T	104068792	C	T	104068792	2	4	158	1	0	0	0	0	0	0	0	1	13538	680	24	4		4	RNPC3	1	104068792	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	4297477	104068792	145181829	15	28039										
RSBN1	54665	genome.wustl.edu	37	chr1	114311001	114311001	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtactggagattttttatttCattcattgatctagagttga	8	4	3	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:114311001C>T	ENST00000261441.5	-	5	1732	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	557						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTTATTTCATTCATTGAT	0.388																																																	0													114	114	114					1																	114311001		2203	4300	6503	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1669G>A	1.37:g.114311001C>T	ENSP00000261441:p.Glu557Lys		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.E557K	ENST00000261441.5	37	c.1669	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.702565	0.96812	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	M	0.78801	2.425	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.81959	-0.0694	9	0.72032	D	0.01	-11.6252	19.8336	0.96646	0.0:1.0:0.0:0.0	.	557	Q5VWQ0	RSBN1_HUMAN	K	557	.	ENSP00000261441:E557K	E	-	1	0	RSBN1	114112524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAA	RSBN1	-	NULL		0.388	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	C	NM_018364		114311001	-1	no_errors	ENST00000261441	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114311001	C	T	114311001	3	4	158	1	0	0	0	0	1	0	0	0	13726	835	29	1	751	1	RSBN1	1	114311001	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	10242209	114311001	134939620	16	28040										
NOTCH2	4853	genome.wustl.edu	37	chr1	120497829	120497829	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acagggattggaggcacactCatcaatgtcaatgttacatc	9	9	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:120497829C>G	ENST00000256646.2	-	13	2272	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	685	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACACTCATCAATGTCA	0.493			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													201	143	162					1																	120497829		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2053G>C	1.37:g.120497829C>G	ENSP00000256646:p.Glu685Gln		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.E685Q	ENST00000256646.2	37	c.2053	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.206158	0.95033	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.98862	-5.19	5.71	5.71	0.89125	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36034	U	0.002838	D	0.99184	0.9717	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99814	1.1043	10	0.66056	D	0.02	.	18.8491	0.92220	0.0:1.0:0.0:0.0	.	646;685;685	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	Q	685;646	ENSP00000256646:E685Q	ENSP00000256646:E685Q	E	-	1	0	NOTCH2	120299352	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.776000	0.85560	2.700000	0.92200	0.650000	0.86243	GAG	NOTCH2	-	pirsf_Notch,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.493	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	C	NM_024408		120497829	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120497829	C	G	120497829	3	3	158	1	0	0	0	0	1	0	0	0	10572	835	29	1	5450	1	NOTCH2	1	120497829	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	6186828	120497829	128752792	17	28041										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144931290	144931290	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatcctcattctccacccagCactcaaaccctgaataggcg	6	16	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:144931290C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.C140Y|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.C140Y|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCACCCAGCACTCAAACCC	0.572			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													147	145	146					1																	144931290		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7469G>A	1.37:g.144931290C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C140Y	ENST00000369354.3	37	c.419	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641360	0.29157	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11385	2.78;2.78	5.3	4.35	0.52113	.	.	.	.	.	T	0.01592	0.0051	N	0.04636	-0.2	0.80722	D	1	B	0.20052	0.041	B	0.17722	0.019	T	0.47129	-0.9141	9	0.17832	T	0.49	.	7.5268	0.27660	0.0:0.7423:0.1683:0.0894	.	140	Q5VU43-2	.	Y	140	ENSP00000316434:C140Y;ENSP00000433392:C140Y	ENSP00000316434:C140Y	C	-	2	0	PDE4DIP	143642647	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.911000	0.48774	2.467000	0.83353	0.462000	0.41574	TGC	PDE4DIP	-	NULL		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144931290	-1	no_errors	ENST00000313431	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144931290	C	T	144931290	1	4	158	0	1	0	0	0	0	0	0	0	11667	710	25	4		4	PDE4DIP	1	144931290	Intron	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	24433461	144931290	104319331	18	28042										
C1orf54	79630	genome.wustl.edu	37	chr1	150248963	150248963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggacataacagaagcaataGagactaccattagtcttgaa	8	7	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:150248963G>A	ENST00000369102.1	+	6	993	c.223G>A	c.(223-225)Gag>Aag	p.E75K	C1orf54_ENST00000369098.3_Missense_Mutation_p.E75K|C1orf54_ENST00000369099.3_Missense_Mutation_p.E75K			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	75						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAGCAATAGAGACTACCAT	0.438																																																	0													144	121	129					1																	150248963		2203	4300	6503	SO:0001583	missense	79630			BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.223G>A	1.37:g.150248963G>A	ENSP00000358098:p.Glu75Lys		Q9H5P3	Missense_Mutation	SNP	NULL	p.E75K	ENST00000369102.1	37	c.223	CCDS948.1	1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012191	0.35511	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	4.52	4.52	0.55395	.	0.533599	0.17063	N	0.188498	T	0.30230	0.0758	L	0.43152	1.355	0.09310	N	1	B;B	0.25809	0.135;0.135	B;B	0.37480	0.214;0.251	T	0.16808	-1.0390	9	0.36615	T	0.2	-2.9398	12.9864	0.58594	0.0:0.0:1.0:0.0	.	75;75	Q5TB16;Q8WWF1	.;CA054_HUMAN	K	75	.	ENSP00000358094:E75K	E	+	1	0	C1orf54	148515587	0.660000	0.27420	0.074000	0.20217	0.021000	0.10359	4.008000	0.57103	2.512000	0.84698	0.551000	0.68910	GAG	C1orf54	-	NULL		0.438	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf54	HGNC	protein_coding	OTTHUMT00000035055.1	G	NM_024579		150248963	1	no_errors	ENST00000369099	ensembl	human	known	70_37	missense	SNP	0.034	A	A	150248963	G	A	150248963	3	1	158	1	0	0	0	0	1	0	0	0	2051	943	33	1	237	1	C1orf54	1	150248963	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	5317673	150248963	99001658	19	28043										
UBAP2L	9898	genome.wustl.edu	37	chr1	154223781	154223781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acagcagaagaaaaaagcctCcttgacttctaaggtactta	7	9	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:154223781C>T	ENST00000361546.2	+	12	1520	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S493F|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S493F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S504F			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	493					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAAAAGCCTCCTTGACTTCT	0.448																																																	0													50	56	54					1																	154223781		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1478C>T	1.37:g.154223781C>T	ENSP00000355343:p.Ser493Phe		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S493F	ENST00000361546.2	37	c.1478	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638850	0.87760	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.14022	2.54;2.55;2.54;2.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.999;0.997;0.997;0.995	D;D;D;D;D	0.80764	0.986;0.979;0.994;0.994;0.986	T	0.02805	-1.1108	10	0.87932	D	0	-6.5549	18.891	0.92403	0.0:1.0:0.0:0.0	.	407;504;486;493;493	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	F	493;493;504;493	ENSP00000345308:S493F;ENSP00000389445:S493F;ENSP00000271877:S504F;ENSP00000355343:S493F	ENSP00000271877:S504F	S	+	2	0	UBAP2L	152490405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	2.941000	0.99782	0.655000	0.94253	TCC	UBAP2L	-	NULL		0.448	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154223781	1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154223781	C	T	154223781	3	4	158	1	0	0	0	0	1	0	0	0	16869	855	30	1	1524	1	UBAP2L	1	154223781	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	3974818	154223781	95026840	20	28044										
ATP8B2	57198	genome.wustl.edu	37	chr1	154304127	154304127	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtctgtgttggtgatattatCaagctagaaaataaccagtt	9	5	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:154304127C>T	ENST00000368489.3	+	7	510	c.510C>T	c.(508-510)atC>atT	p.I170I	ATP8B2_ENST00000368487.3_Silent_p.I137I|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.I156I	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	156					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGATATTATCAAGCTAGAAA	0.478																																																	0													134	123	127					1																	154304127		2203	4300	6503	SO:0001819	synonymous_variant	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.510C>T	1.37:g.154304127C>T			B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.I170	ENST00000368489.3	37	c.510	CCDS1066.1	1																																																																																			ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.478	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	C	NM_020452		154304127	1	no_errors	ENST00000368489	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154304127	C	T	154304127	2	4	158	1	0	0	0	0	0	0	0	1	1196	816	29	1		1	ATP8B2	1	154304127	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	80346	154304127	94946494	21	28045										
F5	2153	genome.wustl.edu	37	chr1	169509926	169509926	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aagcaatgactgactagattCagaagggtagaatatctgat	10	5	2	6			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:169509926C>T	ENST00000367797.3	-	13	4603	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	F5_ENST00000367796.3_Missense_Mutation_p.E1473K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1468	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGACTAGATTCAGAAGGGTAG	0.458																																																	0													86	88	87					1																	169509926		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4402G>A	1.37:g.169509926C>T	ENSP00000356771:p.Glu1468Lys		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1473K	ENST00000367797.3	37	c.4417	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.257409	0.80246	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98400	-4.91;-4.9	5.26	5.26	0.73747	.	0.158165	0.29646	N	0.011573	D	0.95101	0.8413	L	0.57536	1.79	0.23076	N	0.998335	P	0.43094	0.799	B	0.37650	0.255	D	0.94584	0.7782	9	0.25751	T	0.34	-8.2452	14.7108	0.69229	0.0:1.0:0.0:0.0	.	1468	P12259	FA5_HUMAN	K	1468;1473	ENSP00000356771:E1468K;ENSP00000356770:E1473K	ENSP00000356770:E1473K	E	-	1	0	F5	167776550	0.509000	0.26163	0.199000	0.23439	0.072000	0.16883	1.948000	0.40303	2.612000	0.88384	0.591000	0.81541	GAA	F5	-	NULL		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169509926	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.525	T	T	169509926	C	T	169509926	3	4	158	1	0	0	0	0	1	0	0	0	5360	835	29	1	2324	1	F5	1	169509926	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	15205799	169509926	79740695	22	28046										
KCNT2	343450	genome.wustl.edu	37	chr1	196309572	196309572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggtcttggtttttaaatgctGaattctcttctttggtaata	8	5	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:196309572G>A	ENST00000294725.9	-	16	2597	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	KCNT2_ENST00000367431.4_Missense_Mutation_p.S511L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.S172L|KCNT2_ENST00000367433.5_Missense_Mutation_p.S561L|KCNT2_ENST00000609185.1_Missense_Mutation_p.S511L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	561					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S561L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAATGCTGAATTCTCTTC	0.358																																																	1	Substitution - Missense(1)	lung(1)											104	99	101					1																	196309572		2203	4300	6503	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1682C>T	1.37:g.196309572G>A	ENSP00000294725:p.Ser561Leu		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.S561L	ENST00000294725.9	37	c.1682	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.473403	0.96274	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.34667	2.06;1.93;1.35;2.3	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000066	T	0.50837	0.1639	M	0.83012	2.62	0.80722	D	1	B;P;B;P;B	0.38335	0.344;0.48;0.281;0.627;0.344	B;B;B;B;B	0.42827	0.1;0.204;0.204;0.399;0.1	T	0.46707	-0.9172	10	0.22706	T	0.39	-14.3671	20.13	0.97997	0.0:0.0:1.0:0.0	.	561;543;561;511;561	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	L	561;511;382;172;561	ENSP00000356403:S561L;ENSP00000356401:S511L;ENSP00000405474:S172L;ENSP00000294725:S561L	ENSP00000294725:S561L	S	-	2	0	KCNT2	194576195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.751000	0.94390	0.650000	0.86243	TCA	KCNT2	-	NULL		0.358	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	G	NM_198503		196309572	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196309572	G	A	196309572	3	1	158	1	0	0	0	0	1	0	0	0	8112	1294	45	1	1777	1	KCNT2	1	196309572	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	26799646	196309572	52941049	23	28047										
SLC30A1	7779	genome.wustl.edu	37	chr1	211749179	211749179	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tccttcaacatttcgaagttCttttatcaaatttctgatat	3	8	4	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:211749179C>G	ENST00000367001.4	-	2	1204	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	359					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.E359*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TTTCGAAGTTCTTTTATCAAA	0.338																																																	1	Substitution - Nonsense(1)	large_intestine(1)											62	63	63					1																	211749179		2203	4299	6502	SO:0001583	missense	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.1075G>C	1.37:g.211749179C>G	ENSP00000355968:p.Glu359Gln		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E359Q	ENST00000367001.4	37	c.1075	CCDS1499.1	1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653619	0.47362	.	.	ENSG00000170385	ENST00000367001	T	0.63913	-0.07	5.54	4.58	0.56647	.	0.527793	0.22800	N	0.055486	T	0.47600	0.1454	L	0.33668	1.02	0.35520	D	0.801324	P	0.49185	0.92	P	0.45195	0.473	T	0.53443	-0.8438	10	0.24483	T	0.36	-12.3439	4.168	0.10315	0.0:0.5945:0.2153:0.1901	.	359	Q9Y6M5	ZNT1_HUMAN	Q	359	ENSP00000355968:E359Q	ENSP00000355968:E359Q	E	-	1	0	SLC30A1	209815802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.942000	0.40243	2.607000	0.88179	0.563000	0.77884	GAA	SLC30A1	-	pfam_Cation_efflux		0.338	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A1	HGNC	protein_coding	OTTHUMT00000104738.2	C			211749179	-1	no_errors	ENST00000367001	ensembl	human	known	70_37	missense	SNP	1.000	G	G	211749179	C	G	211749179	3	3	158	1	0	0	0	0	1	0	0	0	14583	922	32	1	452	1	SLC30A1	1	211749179	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	15439607	211749179	37501442	24	28048										
SDCCAG8	10806	genome.wustl.edu	37	chr1	243507587	243507587	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgaggcagaaaaggagcacaGagagttcagagcaaaaacta	12	6	1	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr1:243507587G>A	ENST00000366541.3	+	12	1545	c.1427G>A	c.(1426-1428)aGa>aAa	p.R476K	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R331K|MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R433K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	476	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AAGGAGCACAGAGAGTTCAGA	0.378																																																	0													113	109	110					1																	243507587		2203	4300	6503	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1427G>A	1.37:g.243507587G>A	ENSP00000355499:p.Arg476Lys		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.R476K	ENST00000366541.3	37	c.1427	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285995	0.40394	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.48836	0.91;0.86;0.87;0.8	6.07	2.09	0.27110	.	0.288299	0.38005	N	0.001842	T	0.27169	0.0666	L	0.32530	0.975	0.41601	D	0.988857	B;B	0.17268	0.003;0.021	B;B	0.16722	0.009;0.016	T	0.19745	-1.0296	10	0.02654	T	1	-2.4805	5.8955	0.18937	0.2558:0.0:0.6213:0.1229	.	433;476	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	433;476;331;256	ENSP00000348137:R433K;ENSP00000355499:R476K;ENSP00000341260:R331K;ENSP00000410200:R256K	ENSP00000341260:R331K	R	+	2	0	SDCCAG8	241574210	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	2.271000	0.43364	0.137000	0.18759	-0.225000	0.12378	AGA	SDCCAG8	-	NULL		0.378	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	G	NM_006642		243507587	1	no_errors	ENST00000366541	ensembl	human	known	70_37	missense	SNP	1.000	A	A	243507587	G	A	243507587	3	1	158	1	0	0	0	0	1	0	0	0	13989	942	33	1	1473	1	SDCCAG8	1	243507587	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	31758408	243507587	5743034	25	28049										
TAF1B	9014	genome.wustl.edu	37	chr2	9989550	9989550	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttattcctaatacccaaataAaagccctcaaccgggggctt	6	12	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr2:9989550A>C	ENST00000263663.5	+	3	354	c.166A>C	c.(166-168)Aaa>Caa	p.K56Q	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	56	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACCCAAATAAAAGCCCTCAA	0.338																																																	0													34	35	34					2																	9989550		2201	4298	6499	SO:0001583	missense	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.166A>C	2.37:g.9989550A>C	ENSP00000263663:p.Lys56Gln		B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	pfam_TF_Rrn7	p.K56Q	ENST00000263663.5	37	c.166	CCDS33143.1	2	.	.	.	.	.	.	.	.	.	.	A	3.120	-0.180683	0.06380	.	.	ENSG00000115750	ENST00000263663;ENST00000402170;ENST00000404869	T	0.11712	2.75	5.57	3.59	0.41128	.	0.276982	0.42294	N	0.000738	T	0.02304	0.0071	N	0.00182	-1.905	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.39563	-0.9608	9	.	.	.	-10.6768	11.9368	0.52878	0.2542:0.7458:0.0:0.0	.	56;56;56	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	Q	56	ENSP00000263663:K56Q	.	K	+	1	0	TAF1B	9907001	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.975000	0.40569	0.660000	0.30964	0.482000	0.46254	AAA	TAF1B	-	NULL		0.338	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	A	NM_005680		9989550	1	no_errors	ENST00000263663	ensembl	human	known	70_37	missense	SNP	0.999	C	C	9989550	A	C	9989550	3	2	158	1	0	0	0	0	1	0	0	0	15550	15	1	5	176	5	TAF1B	2	9989550	Missense_Mutation	SNP	A	TCGA-JW-A5VJ-01A-11D-A28B-09		9989550	233209823	26	28050										
CCNT2	905	genome.wustl.edu	37	chr2	135711875	135711875	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttcctctagctccagctcttCaaggaagaggctgcatgtca	9	12	4	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr2:135711875C>T	ENST00000264157.5	+	9	1880	c.1850C>T	c.(1849-1851)tCa>tTa	p.S617L	CCNT2_ENST00000295238.6_Missense_Mutation_p.S617L|CCNT2_ENST00000537343.1_Missense_Mutation_p.S442L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	617	Poly-Ser.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TCCAGCTCTTCAAGGAAGAGG	0.493																																																	0													144	136	139					2																	135711875		2203	4300	6503	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1850C>T	2.37:g.135711875C>T	ENSP00000264157:p.Ser617Leu		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S617L	ENST00000264157.5	37	c.1850	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433281	0.25813	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.37058	1.22;1.55	5.43	5.43	0.79202	.	0.330965	0.33753	N	0.004588	T	0.35653	0.0939	L	0.48642	1.525	0.43550	D	0.995858	B;B;P	0.35575	0.002;0.044;0.51	B;B;B	0.32864	0.003;0.024;0.154	T	0.18241	-1.0343	10	0.51188	T	0.08	.	19.2608	0.93967	0.0:1.0:0.0:0.0	.	442;617;617	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	L	442;617;617	ENSP00000295238:S617L;ENSP00000264157:S617L	ENSP00000264157:S617L	S	+	2	0	CCNT2	135428345	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.562000	0.60816	2.549000	0.85964	0.655000	0.94253	TCA	CCNT2	-	NULL		0.493	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	C	NM_058241		135711875	1	no_errors	ENST00000264157	ensembl	human	known	70_37	missense	SNP	0.997	T	T	135711875	C	T	135711875	3	4	158	1	0	0	0	0	1	0	0	0	2940	838	29	1	1884	1	CCNT2	2	135711875	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	125722325	135711875	107487498	27	28051										
SLC4A10	57282	genome.wustl.edu	37	chr2	162813641	162813641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aaaactggaatcagaatgctCagctccaggagaacaaccca	8	11	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr2:162813641C>T	ENST00000446997.1	+	20	2777	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S865L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S876L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S895L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S865L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	895					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCAGAATGCTCAGCTCCAGGA	0.468																																																	0													61	64	63					2																	162813641		2148	4289	6437	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2684C>T	2.37:g.162813641C>T	ENSP00000393066:p.Ser895Leu		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.S895L	ENST00000446997.1	37	c.2684	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.163955	0.94727	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.28	5.28	0.74379	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.81239	2.535	0.80722	D	1	D;D;D	0.63046	0.989;0.989;0.992	D;D;D	0.64506	0.923;0.923;0.926	D	0.88573	0.3131	10	0.52906	T	0.07	.	19.2695	0.94003	0.0:1.0:0.0:0.0	.	876;865;895	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	876;865;865;864;895;895;894	ENSP00000364664:S876L;ENSP00000395797:S865L;ENSP00000272716:S865L;ENSP00000393066:S895L;ENSP00000404486:S895L	ENSP00000272716:S865L	S	+	2	0	SLC4A10	162521887	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.608000	0.88229	0.655000	0.94253	TCA	SLC4A10	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.468	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	C	NM_022058		162813641	1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162813641	C	T	162813641	3	4	158	1	0	0	0	0	1	0	0	0	14681	838	29	1	2847	1	SLC4A10	2	162813641	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	27101766	162813641	80385732	28	28052										
DCAF17	80067	genome.wustl.edu	37	chr2	172309709	172309709	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tttcacttgtagggattctaGagatcaacaaaaaggtaaga	9	5	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr2:172309709G>C	ENST00000375255.3	+	6	940	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.E205Q	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	205					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGGGATTCTAGAGATCAACAA	0.308																																																	0													103	92	96					2																	172309709		1819	4091	5910	SO:0001583	missense	80067			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.613G>C	2.37:g.172309709G>C	ENSP00000364404:p.Glu205Gln		B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	NULL	p.E205Q	ENST00000375255.3	37	c.613	CCDS2243.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.382412|4.382412	0.82792|0.82792	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000539783;ENST00000339506|ENST00000429466	T;T|.	0.78246|.	-1.16;-1.16|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65995|0.65995	0.2745|0.2745	L|L	0.60455|0.60455	1.87|1.87	0.50632|0.50632	D|D	0.999885|0.999885	D;D|.	0.89917|.	1.0;0.996|.	D;D|.	0.87578|.	0.998;0.991|.	T|T	0.60058|0.60058	-0.7337|-0.7337	9|6	.|0.02654	.|T	.|1	-15.5201|-15.5201	19.3568|19.3568	0.94418|0.94418	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205;205|.	F5H7W1;Q5H9S7|.	.;DCA17_HUMAN|.	Q|T	205;205;26|25	ENSP00000364404:E205Q;ENSP00000442238:E205Q|.	.|ENSP00000389290:R25T	E|R	+|+	1|2	0|0	DCAF17|DCAF17	172017955|172017955	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	6.774000|6.774000	0.75012|0.75012	2.683000|2.683000	0.91414|0.91414	0.585000|0.585000	0.79938|0.79938	GAG|AGA	DCAF17	-	NULL		0.308	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	G	NM_025000		172309709	1	no_errors	ENST00000375255	ensembl	human	known	70_37	missense	SNP	1.000	C	C	172309709	G	C	172309709	3	2	158	1	0	0	0	0	1	0	0	0	4274	943	33	1	635	1	DCAF17	2	172309709	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	9496068	172309709	70889664	29	28053										
FKBP7	51661	genome.wustl.edu	37	chr2	179330622	179330622	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgacttgtcacgtggcttctCatctttttcaaattcccttt	5	11	4	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr2:179330622C>T	ENST00000424785.2	-	4	602	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FKBP7_ENST00000434643.2_Missense_Mutation_p.E181K|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	219	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CGTGGCTTCTCATCTTTTTCA	0.348																																					Melanoma(26;682 927 5286 17599 46613)												0													135	135	135					2																	179330622		2202	4300	6502	SO:0001583	missense	51661			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.544G>A	2.37:g.179330622C>T	ENSP00000413152:p.Glu182Lys		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.E182K	ENST00000424785.2	37	c.544	CCDS2280.1	2	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363828	0.41902	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.71698	-0.59;-0.59	5.88	3.17	0.36434	.	0.460849	0.25854	N	0.027866	T	0.49287	0.1548	.	.	.	0.28586	N	0.909865	B;B	0.19200	0.034;0.032	B;B	0.25614	0.036;0.062	T	0.32851	-0.9891	9	0.06757	T	0.87	-0.5568	11.419	0.49969	0.0:0.813:0.0:0.187	.	181;182	Q9Y680-3;Q9Y680-2	.;.	K	182;217;181	ENSP00000413152:E182K;ENSP00000415486:E181K	ENSP00000335194:E217K	E	-	1	0	FKBP7	179038868	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.870000	0.48451	0.410000	0.25675	-0.794000	0.03295	GAG	FKBP7	-	NULL		0.348	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP7	HGNC	protein_coding	OTTHUMT00000255783.1	C	NM_181342		179330622	-1	no_errors	ENST00000424785	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179330622	C	T	179330622	3	4	158	1	0	0	0	0	1	0	0	0	5931	835	29	1	128	1	FKBP7	2	179330622	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	7020913	179330622	63868751	30	28054										
SCG2	7857	genome.wustl.edu	37	chr2	224462210	224462210	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttttctgccttttcttggttGaggtattccagcactttcat	7	9	3	1	rs201064129		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr2:224462210G>A	ENST00000305409.2	-	2	2023	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTTGGTTGAGGTATTCCA	0.443																																																	0													150	148	149					2																	224462210		2203	4300	6503	SO:0001819	synonymous_variant	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1791C>T	2.37:g.224462210G>A			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Granin	p.L597	ENST00000305409.2	37	c.1791	CCDS2457.1	2																																																																																			SCG2	-	pfam_Granin		0.443	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	G	NM_003469		224462210	-1	no_errors	ENST00000305409	ensembl	human	known	70_37	silent	SNP	0.999	A	A	224462210	G	A	224462210	2	1	158	1	0	0	0	0	0	0	0	1	13921	1277	45	1		1	SCG2	2	224462210	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	45131588	224462210	18737163	31	28055										
GLB1	2720	genome.wustl.edu	37	chr3	33055739	33055739	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gcacactgcatcctcagtgtCcagtggaaagatcgtccagt	10	12	1	1	rs575625235		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:33055739C>G	ENST00000399402.3	-	15	1584	c.1453G>C	c.(1453-1455)Gac>Cac	p.D485H	GLB1_ENST00000307377.8_Missense_Mutation_p.D384H|GLB1_ENST00000445488.2_Missense_Mutation_p.D563H|GLB1_ENST00000307363.5_Missense_Mutation_p.D515H|GLB1_ENST00000497796.1_5'UTR	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	515					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCCTCAGTGTCCAGTGGAAAG	0.562																																																	0													69	72	71					3																	33055739		2008	4163	6171	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1453G>C	3.37:g.33055739C>G	ENSP00000382333:p.Asp485His		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.D563H	ENST00000399402.3	37	c.1687	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876135	0.51801	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.82	-4.44	0.03557	Galactose-binding domain-like (1);	0.532875	0.24580	N	0.037312	D	0.92011	0.7469	M	0.72894	2.215	0.26593	N	0.973169	B;B;B;B	0.16603	0.005;0.018;0.005;0.01	B;B;B;B	0.12837	0.003;0.008;0.003;0.006	T	0.82667	-0.0344	10	0.51188	T	0.08	-9.4671	8.8275	0.35063	0.0:0.4452:0.0943:0.4604	.	515;384;515;563	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	H	485;515;563;384	ENSP00000382333:D485H;ENSP00000306920:D515H;ENSP00000393377:D563H;ENSP00000305920:D384H	ENSP00000306920:D515H	D	-	1	0	GLB1	33030743	0.986000	0.35501	0.387000	0.26183	0.500000	0.33767	0.223000	0.17719	-0.747000	0.04759	-1.722000	0.00706	GAC	GLB1	-	superfamily_Galactose-bd-like		0.562	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	C	NM_000404		33055739	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	missense	SNP	0.957	G	G	33055739	C	G	33055739	3	3	158	1	0	0	0	0	1	0	0	0	6446	855	30	1	498	1	GLB1	3	33055739	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		33055739	164966691	32	28056										
GLB1	2720	genome.wustl.edu	37	chr3	33055755	33055755	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtgtccagtggaaagatcgtCcagtccgtgaggatattgga	14	7	0	2	rs72555363		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:33055755C>T	ENST00000399402.3	-	15	1568	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	GLB1_ENST00000307377.8_Nonsense_Mutation_p.W378*|GLB1_ENST00000445488.2_Nonsense_Mutation_p.W557*|GLB1_ENST00000307363.5_Nonsense_Mutation_p.W509*|GLB1_ENST00000497796.1_5'UTR	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	509					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GAAAGATCGTCCAGTCCGTGA	0.557																																																	0			GRCh37	CM910190	GLB1	M	rs72555363						63	65	65					3																	33055755		2011	4166	6177	SO:0001587	stop_gained	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1437G>A	3.37:g.33055755C>T	ENSP00000382333:p.Trp479*		B2R7H8|B7Z6B0|P16279	Nonsense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.W557*	ENST00000399402.3	37	c.1671	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.400994	0.96030	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5847	18.9383	0.92595	0.0:1.0:0.0:0.0	.	.	.	.	X	479;509;557;378	.	ENSP00000306920:W509X	W	-	3	0	GLB1	33030759	1.000000	0.71417	0.963000	0.40424	0.656000	0.38851	7.005000	0.76323	2.770000	0.95276	0.650000	0.86243	TGG	GLB1	-	superfamily_Galactose-bd-like		0.557	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	C	NM_000404		33055755	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	33055755	C	T	33055755	4	4	158	1	0	0	0	0	0	1	0	0	6446	856	30	1	514	1	GLB1	3	33055755	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	16	33055755	164966675	33	28057										
CADPS	8618	genome.wustl.edu	37	chr3	62499350	62499350	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acttgggaggccaagcagaaGacaggatgctcatacatttc	11	9	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:62499350G>A	ENST00000383710.4	-	17	2931				CADPS_ENST00000283269.9_Silent_p.V871V|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCAAGCAGAAGACAGGATGCT	0.423																																																	0													118	93	102					3																	62499350		2203	4299	6502	SO:0001627	intron_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-907C>T	3.37:g.62499350G>A			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V871	ENST00000383710.4	37	c.2613	CCDS46858.1	3																																																																																			CADPS	-	pfam_Ca-dep_secretion_activator		0.423	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394		62499350	-1	no_errors	ENST00000283269	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62499350	G	A	62499350	1	1	158	0	1	0	0	0	0	0	0	0	2575	929	33	1		1	CADPS	3	62499350	Intron	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	29443595	62499350	135523080	34	28058										
KIAA1407	57577	genome.wustl.edu	37	chr3	113724628	113724628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttctgagtgtctcgttgctgCcaggctgttgagagggttca	14	8	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:113724628C>T	ENST00000295878.3	-	10	1741	c.1595G>A	c.(1594-1596)gGc>gAc	p.G532D	KIAA1407_ENST00000545063.1_Missense_Mutation_p.G363D	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	532										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTCGTTGCTGCCAGGCTGTTG	0.527																																																	0													186	187	187					3																	113724628		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1595G>A	3.37:g.113724628C>T	ENSP00000295878:p.Gly532Asp		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.G532D	ENST00000295878.3	37	c.1595	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	8.584	0.882945	0.17467	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.44482	1.54;0.92;0.94	5.23	2.46	0.29980	.	0.617360	0.18029	N	0.153996	T	0.29458	0.0734	L	0.53249	1.67	0.09310	N	1	B;B;B	0.24368	0.058;0.102;0.102	B;B;B	0.20955	0.022;0.032;0.022	T	0.23404	-1.0189	10	0.12103	T	0.63	.	3.6566	0.08223	0.1362:0.5798:0.1323:0.1517	.	519;408;532	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	D	532;363;519	ENSP00000295878:G532D;ENSP00000446381:G363D;ENSP00000418099:G519D	ENSP00000295878:G532D	G	-	2	0	KIAA1407	115207318	0.000000	0.05858	0.015000	0.15790	0.007000	0.05969	0.458000	0.21892	0.349000	0.23975	-0.140000	0.14226	GGC	KIAA1407	-	NULL		0.527	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113724628	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	0.000	T	T	113724628	C	T	113724628	3	4	158	1	0	0	0	0	1	0	0	0	8249	739	26	4	1247	4	KIAA1407	3	113724628	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	51225278	113724628	84297802	35	28059										
ARGFX	503582	genome.wustl.edu	37	chr3	121304901	121304901	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aaccggcgattcaaattgaaGaagcagcagcagcagcaatc	10	10	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:121304901G>C	ENST00000334384.3	+	4	412	c.402G>C	c.(400-402)aaG>aaC	p.K134N		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K134N(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCAAATTGAAGAAGCAGCAGC	0.517																																																	1	Substitution - Missense(1)	ovary(1)											83	80	81					3																	121304901		2203	4300	6503	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.402G>C	3.37:g.121304901G>C	ENSP00000335578:p.Lys134Asn			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.K134N	ENST00000334384.3	37	c.402	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829574	0.50845	.	.	ENSG00000186103	ENST00000334384	D	0.98313	-4.86	3.17	2.3	0.28687	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.717195	0.11854	N	0.523099	D	0.98036	0.9353	M	0.86343	2.81	0.09310	N	1	P	0.47841	0.901	P	0.49683	0.619	D	0.94358	0.7585	10	0.87932	D	0	-4.2254	6.5352	0.22350	0.1356:0.0:0.8644:0.0	.	134	A6NJG6	ARGFX_HUMAN	N	134	ENSP00000335578:K134N	ENSP00000335578:K134N	K	+	3	2	ARGFX	122787591	0.017000	0.18338	0.022000	0.16811	0.399000	0.30720	1.225000	0.32551	0.908000	0.36671	-0.254000	0.11334	AAG	ARGFX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.517	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	G	NM_001012659		121304901	1	no_errors	ENST00000334384	ensembl	human	known	70_37	missense	SNP	0.027	C	C	121304901	G	C	121304901	3	2	158	1	0	0	0	0	1	0	0	0	859	933	33	1	416	1	ARGFX	3	121304901	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7580273	121304901	76717529	36	28060										
IQCB1	9657	genome.wustl.edu	37	chr3	121547406	121547406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	accaagaggcaatattgaatGagatcataacaatatatatc	6	6	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:121547406G>A	ENST00000310864.6	-	4	388	c.174C>T	c.(172-174)ctC>ctT	p.L58L	IQCB1_ENST00000349820.6_Silent_p.L58L	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	58					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AATATTGAATGAGATCATAAC	0.328																																																	0													80	75	77					3																	121547406		2203	4300	6503	SO:0001819	synonymous_variant	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.174C>T	3.37:g.121547406G>A			Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L58	ENST00000310864.6	37	c.174	CCDS33837.1	3																																																																																			IQCB1	-	NULL		0.328	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	G	NM_014642		121547406	-1	no_errors	ENST00000310864	ensembl	human	known	70_37	silent	SNP	1.000	A	A	121547406	G	A	121547406	2	1	158	1	0	0	0	0	0	0	0	1	7823	1277	45	1		1	IQCB1	3	121547406	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	242505	121547406	76475024	37	28061										
RPN1	6184	genome.wustl.edu	37	chr3	128363805	128363805	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acgtacttccaaattgttctCttcctcatcttctcccttta	2	14	4	0	rs376078228		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:128363805C>G	ENST00000296255.3	-	2	331	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	95					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AAATTGTTCTCTTCCTCATCT	0.338			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													250	215	227					3																	128363805		2203	4300	6503	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.283G>C	3.37:g.128363805C>G	ENSP00000296255:p.Glu95Gln		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.E95Q	ENST00000296255.3	37	c.283	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192548	0.78902	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.01	5.01	0.66863	.	0.165190	0.53938	D	0.000056	T	0.54159	0.1841	L	0.40543	1.245	0.80722	D	1	B	0.19073	0.033	B	0.21151	0.033	T	0.49204	-0.8964	9	0.17832	T	0.49	-15.6971	17.6567	0.88180	0.0:1.0:0.0:0.0	.	95	P04843	RPN1_HUMAN	Q	95;69	.	ENSP00000296255:E95Q	E	-	1	0	RPN1	129846495	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.657000	0.67996	2.483000	0.83821	0.591000	0.81541	GAG	RPN1	-	pfam_Ribophorin_I		0.338	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	C	NM_002950		128363805	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128363805	C	G	128363805	3	3	158	1	0	0	0	0	1	0	0	0	13637	922	32	1	1576	1	RPN1	3	128363805	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	6816399	128363805	69658625	38	28062										
GHSR	2693	genome.wustl.edu	37	chr3	172165471	172165471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggcacccacgacagcatcgcCgcgcctcctccgccacagct	9	21	0	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:172165471C>T	ENST00000241256.2	-	1	775	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	GHSR_ENST00000427970.1_Missense_Mutation_p.G245S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	245					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACAGCATCGCCGCGCCTCCTC	0.607																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0													63	57	59					3																	172165471		2203	4300	6503	SO:0001583	missense	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.733G>A	3.37:g.172165471C>T	ENSP00000241256:p.Gly245Ser		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn	p.G245S	ENST00000241256.2	37	c.733	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	C	3.222	-0.159253	0.06544	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.70516	-0.49;-0.49	5.52	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.430671	0.27019	N	0.021325	T	0.39860	0.1094	N	0.05124	-0.11	0.32504	N	0.538474	B;B	0.18310	0.027;0.0	B;B	0.15870	0.014;0.001	T	0.29822	-0.9999	10	0.09084	T	0.74	-24.2261	4.3247	0.11034	0.1418:0.4869:0.2767:0.0946	.	245;245	Q92847-2;Q92847	.;GHSR_HUMAN	S	245	ENSP00000241256:G245S;ENSP00000395344:G245S	ENSP00000241256:G245S	G	-	1	0	GHSR	173648165	0.992000	0.36948	0.757000	0.31301	0.230000	0.25150	2.659000	0.46741	0.242000	0.21303	-0.384000	0.06662	GGC	GHSR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt		0.607	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1	C	NM_004122		172165471	-1	no_errors	ENST00000241256	ensembl	human	known	70_37	missense	SNP	0.988	T	T	172165471	C	T	172165471	3	4	158	1	0	0	0	0	1	0	0	0	6394	652	23	2	449	2	GHSR	3	172165471	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	43801666	172165471	25856959	39	28063										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	158	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	6770620	178936091	19086339	40	28064										
MASP1	5648	genome.wustl.edu	37	chr3	186944295	186944295	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggcagtgtgcggcggtcacGatccagctggagcctgggga	18	10	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:186944295G>A	ENST00000337774.5	-	12	1844	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	485	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGCGGTCACGATCCAGCTGG	0.562																																																	0													111	92	98					3																	186944295		2203	4300	6503	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1455C>T	3.37:g.186944295G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.I485	ENST00000337774.5	37	c.1455	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.562	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	G	NM_001879		186944295	-1	no_errors	ENST00000337774	ensembl	human	known	70_37	silent	SNP	0.659	A	A	186944295	G	A	186944295	2	1	158	1	0	0	0	0	0	0	0	1	9345	1048	37	1		1	MASP1	3	186944295	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	8008204	186944295	11078135	41	28065										
APOD	347	genome.wustl.edu	37	chr3	195295997	195295997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ccaggatccagtacggtgccGatggcataactgagaaccag	12	11	0	1	rs5954		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr3:195295997G>A	ENST00000343267.3	-	5	705	c.344C>T	c.(343-345)tCg>tTg	p.S115L		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	115			S -> L (in dbSNP:rs5954). {ECO:0000269|PubMed:10391209}.		aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GTACGGTGCCGATGGCATAAC	0.512																																																	0													90	87	88					3																	195295997		2203	4300	6503	SO:0001583	missense	347				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.344C>T	3.37:g.195295997G>A	ENSP00000345179:p.Ser115Leu		B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac	p.S115L	ENST00000343267.3	37	c.344	CCDS33925.1	3	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154474	0.21371	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.30448	1.53;1.53;1.53	5.92	4.02	0.46733	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477428	0.24260	N	0.040090	T	0.23410	0.0566	L	0.39898	1.24	0.09310	N	1	P	0.39352	0.669	B	0.33196	0.159	T	0.10753	-1.0616	10	0.40728	T	0.16	-1.6329	13.017	0.58764	0.0:0.3074:0.6926:0.0	rs5954	115	P05090	APOD_HUMAN	L	115;143;115	ENSP00000345179:S115L;ENSP00000415235:S143L;ENSP00000393076:S115L	ENSP00000345179:S115L	S	-	2	0	APOD	196777286	0.000000	0.05858	0.009000	0.14445	0.133000	0.20885	0.808000	0.27154	1.456000	0.47831	0.561000	0.74099	TCG	APOD	-	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOD	HGNC	protein_coding	OTTHUMT00000342004.1	G	NM_001647		195295997	-1	no_errors	ENST00000343267	ensembl	human	known	70_37	missense	SNP	0.002	A	A	195295997	G	A	195295997	3	1	158	1	0	0	0	0	1	0	0	0	801	1059	37	1	229	1	APOD	3	195295997	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	8351702	195295997	2726433	42	28066										
TACC3	10460	genome.wustl.edu	37	chr4	1742569	1742569	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	caagaggaagttcagaagcaGaaggaactttccaaagctga	11	7	1	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:1742569G>A	ENST00000313288.4	+	13	2185	c.2079G>A	c.(2077-2079)caG>caA	p.Q693Q		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	693					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TTCAGAAGCAGAAGGAACTTT	0.458																																					Ovarian(120;482 2294 11894 35824)												0													77	77	77					4																	1742569		2203	4300	6503	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2079G>A	4.37:g.1742569G>A			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	pfam_TACC	p.Q693	ENST00000313288.4	37	c.2079	CCDS3352.1	4																																																																																			TACC3	-	pfam_TACC		0.458	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	G			1742569	1	no_errors	ENST00000313288	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1742569	G	A	1742569	2	1	158	1	0	0	0	0	0	0	0	1	15533	933	33	1		1	TACC3	4	1742569	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		1742569	189411707	43	28067										
FAM193A	8603	genome.wustl.edu	37	chr4	2701482	2701482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tccaggaggagcagaggcggCgggaggaggaggaggatgag	23	5	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:2701482C>T	ENST00000324666.5	+	17	3061	c.2710C>T	c.(2710-2712)Cgg>Tgg	p.R904W	FAM193A_ENST00000505311.1_Missense_Mutation_p.R904W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R904W|FAM193A_ENST00000545951.1_Missense_Mutation_p.R904W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R926W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	904	Glu-rich.									NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCAGAGGCGGCGggaggagga	0.547																																																	0													22	23	23					4																	2701482		2202	4300	6502	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2710C>T	4.37:g.2701482C>T	ENSP00000324587:p.Arg904Trp		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.R904W	ENST00000324666.5	37	c.2710	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808956	0.70797	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.37058	1.23;1.63;1.22;1.23;1.23	5.75	3.97	0.46021	.	0.379471	0.29624	N	0.011623	T	0.38957	0.1060	L	0.29908	0.895	0.49051	D	0.999743	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.99;0.99	P;P;P;P;P	0.55667	0.781;0.681;0.781;0.681;0.681	T	0.20739	-1.0266	10	0.87932	D	0	-1.4555	10.5767	0.45231	0.1408:0.5874:0.2718:0.0	.	904;926;904;926;904	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	W	904;904;904;926;758	ENSP00000372290:R904W;ENSP00000324587:R904W;ENSP00000443617:R904W;ENSP00000427505:R926W;ENSP00000427260:R758W	ENSP00000324587:R904W	R	+	1	2	FAM193A	2671280	0.670000	0.27512	0.055000	0.19348	0.869000	0.49853	0.441000	0.21611	0.720000	0.32209	0.650000	0.86243	CGG	FAM193A	-	NULL		0.547	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2701482	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2701482	C	T	2701482	3	4	158	1	0	0	0	0	1	0	0	0	5539	759	27	2	2768	2	FAM193A	4	2701482	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	958913	2701482	188452794	44	28068										
LIAS	11019	genome.wustl.edu	37	chr4	39465151	39465151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ccttttgcatacaggtatgtGaggaagctcgatgtcccaat	10	9	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:39465151G>A	ENST00000261434.3	+	4	437	c.319G>A	c.(319-321)Gag>Aag	p.E107K	LIAS_ENST00000513731.1_Intron|LIAS_ENST00000340169.2_Missense_Mutation_p.E107K|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Missense_Mutation_p.E107K	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						ACAGGTATGTGAGGAAGCTCG	0.463																																																	0													113	98	103					4																	39465151		2203	4300	6503	SO:0001583	missense	11019			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000261434.3:c.319G>A	4.37:g.39465151G>A	ENSP00000261434:p.Glu107Lys			Missense_Mutation	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	p.E107K	ENST00000261434.3	37	c.319	CCDS3453.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.667185	0.96745	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000381846	T;T;T	0.78246	-1.16;-1.16;-1.16	5.28	5.28	0.74379	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.969;0.999;1.0	P;D;D	0.77557	0.868;0.967;0.99	D	0.90136	0.4210	10	0.87932	D	0	-18.8601	17.8926	0.88877	0.0:0.0:1.0:0.0	.	107;107;107	C9JCF6;O43766;Q6P5Q6	.;LIAS_HUMAN;.	K	107	ENSP00000340676:E107K;ENSP00000261434:E107K;ENSP00000371270:E107K	ENSP00000261434:E107K	E	+	1	0	LIAS	39141546	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.343000	0.97047	2.473000	0.83533	0.655000	0.94253	GAG	LIAS	-	pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth		0.463	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIAS	HGNC	protein_coding	OTTHUMT00000216815.1	G	NM_194451		39465151	1	no_errors	ENST00000261434	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39465151	G	A	39465151	3	1	158	1	0	0	0	0	1	0	0	0	8798	1291	45	1	333	1	LIAS	4	39465151	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	36763669	39465151	151689125	45	28069										
LRRC66	339977	genome.wustl.edu	37	chr4	52861239	52861239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaacctcgctgtagtgggctGaaagcgcttcctcagccctt	11	13	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:52861239G>A	ENST00000343457.3	-	4	1955	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	650						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTAGTGGGCTGAAAGCGCTTC	0.532																																																	0													78	77	77					4																	52861239		2014	4176	6190	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1949C>T	4.37:g.52861239G>A	ENSP00000341944:p.Ser650Leu			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S650L	ENST00000343457.3	37	c.1949	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	9.093	1.002210	0.19121	.	.	ENSG00000188993	ENST00000343457	T	0.33865	1.39	3.83	2.1	0.27182	.	1.436050	0.04422	N	0.367703	T	0.23649	0.0572	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20605	-1.0270	10	0.42905	T	0.14	2.3561	6.2094	0.20621	0.3162:0.0:0.6838:0.0	.	650	Q68CR7	LRC66_HUMAN	L	650	ENSP00000341944:S650L	ENSP00000341944:S650L	S	-	2	0	LRRC66	52555996	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.370000	0.34238	0.592000	0.29728	-0.216000	0.12614	TCA	LRRC66	-	NULL		0.532	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	G	NM_001024611		52861239	-1	no_errors	ENST00000343457	ensembl	human	known	70_37	missense	SNP	0.000	A	A	52861239	G	A	52861239	3	1	158	1	0	0	0	0	1	0	0	0	9041	1294	45	1	697	1	LRRC66	4	52861239	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	13396088	52861239	138293037	46	28070										
AFP	174	genome.wustl.edu	37	chr4	74304004	74304004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cactggagatgaacagtcttCagggtgtttagaaaaccagg	12	7	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:74304004C>T	ENST00000395792.2	+	3	351	c.251C>T	c.(250-252)tCa>tTa	p.S84L	AFP_ENST00000226359.2_Missense_Mutation_p.S84L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	84	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			gaacagtcttcagggtgttta	0.363									Alpha-Fetoprotein, Hereditary Persistence of																																								0													66	64	65					4																	74304004		2203	4300	6503	SO:0001583	missense	174	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.251C>T	4.37:g.74304004C>T	ENSP00000379138:p.Ser84Leu		B2RBU3	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin	p.S84L	ENST00000395792.2	37	c.251	CCDS3556.1	4	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701987	0.30232	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.38240	1.15;1.15	5.0	-5.09	0.02920	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.315330	0.05542	N	0.565959	T	0.19366	0.0465	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.18777	-1.0326	10	0.33940	T	0.23	.	1.2441	0.01969	0.4365:0.1848:0.2129:0.1658	.	84	P02771	FETA_HUMAN	L	84	ENSP00000379138:S84L;ENSP00000226359:S84L	ENSP00000226359:S84L	S	+	2	0	AFP	74522868	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.537000	0.06128	-0.763000	0.04658	0.561000	0.74099	TCA	AFP	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.363	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	HGNC	protein_coding	OTTHUMT00000252284.3	C			74304004	1	no_errors	ENST00000395792	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74304004	C	T	74304004	3	4	158	1	0	0	0	0	1	0	0	0	363	838	29	1	261	1	AFP	4	74304004	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	21442765	74304004	116850272	47	28071										
BMP3	651	genome.wustl.edu	37	chr4	81952680	81952680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gacaccgggctccctggaggGaggctcgcagccctggcgcc	16	16	0	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:81952680G>T	ENST00000282701.2	+	1	562	c.242G>T	c.(241-243)gGa>gTa	p.G81V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	81					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.G81E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCTGGAGGGAGGCTCGCAG	0.672																																																	1	Substitution - Missense(1)	lung(1)											14	17	16					4																	81952680		2201	4297	6498	SO:0001583	missense	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.242G>T	4.37:g.81952680G>T	ENSP00000282701:p.Gly81Val		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.G81V	ENST00000282701.2	37	c.242	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416362	0.25552	.	.	ENSG00000152785	ENST00000282701	T	0.66099	-0.19	4.62	1.86	0.25419	Transforming growth factor-beta, N-terminal (1);	0.816239	0.10799	N	0.632865	T	0.37293	0.0998	N	0.08118	0	0.09310	N	1	B	0.20164	0.042	B	0.19666	0.026	T	0.22417	-1.0217	10	0.33940	T	0.23	.	4.6419	0.12552	0.0836:0.1569:0.6075:0.152	.	81	P12645	BMP3_HUMAN	V	81	ENSP00000282701:G81V	ENSP00000282701:G81V	G	+	2	0	BMP3	82171704	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.060000	0.14342	0.259000	0.21709	0.655000	0.94253	GGA	BMP3	-	pfam_TGF-b_N,pirsf_BMP3/GDF10		0.672	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	G			81952680	1	no_errors	ENST00000282701	ensembl	human	known	70_37	missense	SNP	0.003	T	T	81952680	G	T	81952680	3	4	158	1	0	0	0	0	1	0	0	0	1462	1174	41	3	244	3	BMP3	4	81952680	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7648676	81952680	109201596	48	28072										
FAT4	79633	genome.wustl.edu	37	chr4	126241227	126241227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tttaccaagctacaatatcaGaatcagcagccaatctgaca	5	11	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:126241227G>C	ENST00000394329.3	+	1	3674	c.3661G>C	c.(3661-3663)Gaa>Caa	p.E1221Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1221	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACAATATCAGAATCAGCAGC	0.348																																																	0													42	41	41					4																	126241227		1840	4091	5931	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3661G>C	4.37:g.126241227G>C	ENSP00000377862:p.Glu1221Gln		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E1221Q	ENST00000394329.3	37	c.3661	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614760	0.66672	.	.	ENSG00000196159	ENST00000394329	T	0.75938	-0.98	4.86	4.86	0.63082	Cadherin (3);Cadherin-like (1);	0.000000	0.34411	U	0.003993	D	0.91102	0.7199	H	0.96916	3.905	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93959	0.7239	10	0.72032	D	0.01	.	18.1662	0.89727	0.0:0.0:1.0:0.0	.	1221	Q6V0I7	FAT4_HUMAN	Q	1221	ENSP00000377862:E1221Q	ENSP00000377862:E1221Q	E	+	1	0	FAT4	126460677	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.454000	0.97621	2.536000	0.85505	0.561000	0.74099	GAA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126241227	1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	C	C	126241227	G	C	126241227	3	2	158	1	0	0	0	0	1	0	0	0	5710	943	33	1	3663	1	FAT4	4	126241227	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	44288547	126241227	64913049	49	28073										
FBXW7	55294	genome.wustl.edu	37	chr4	153247280	153247280	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aaccctcctgccatcatattGaacacagcggactgctgcaa	7	14	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:153247280G>A	ENST00000281708.4	-	10	2751	c.1522C>T	c.(1522-1524)Caa>Taa	p.Q508*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.Q332*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.Q390*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.Q428*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q508*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q508*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	508				Q -> R (in Ref. 7; AAH37320). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCATCATATTGAACACAGCGG	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											171	163	166					4																	153247280		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1522C>T	4.37:g.153247280G>A	ENSP00000281708:p.Gln508*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q508*	ENST00000281708.4	37	c.1522	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.412237	0.97546	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-15.9911	20.2406	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	508;390;428;332	.	ENSP00000263981:Q428X	Q	-	1	0	FBXW7	153466730	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.772000	0.98984	2.857000	0.98124	0.650000	0.86243	CAA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247280	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	153247280	G	A	153247280	4	1	158	1	0	0	0	0	0	1	0	0	5787	1299	45	1	613	1	FBXW7	4	153247280	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	27006053	153247280	37906996	50	28074										
PLRG1	5356	genome.wustl.edu	37	chr4	155470015	155470015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggcacaggttttccattatCagctacaaacatgtcatggg	9	9	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:155470015C>T	ENST00000499023.2	-	2	208	c.82G>A	c.(82-84)Gat>Aat	p.D28N	PLRG1_ENST00000302078.5_Missense_Mutation_p.D28N|PLRG1_ENST00000393905.2_Missense_Mutation_p.D28N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	28					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TTTCCATTATCAGCTACAAAC	0.368																																																	0													104	99	100					4																	155470015		2203	4300	6503	SO:0001583	missense	5356			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.82G>A	4.37:g.155470015C>T	ENSP00000424417:p.Asp28Asn		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D28N	ENST00000499023.2	37	c.82	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474538	0.84640	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.65916	-0.18;-0.17;-0.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.28556	0.865	0.80722	D	1	D;B	0.76494	0.999;0.103	D;B	0.69479	0.964;0.023	T	0.63207	-0.6689	10	0.21540	T	0.41	-27.5696	19.8891	0.96923	0.0:1.0:0.0:0.0	.	28;28	O43660-2;O43660	.;PLRG1_HUMAN	N	28;28;28;26	ENSP00000424417:D28N;ENSP00000377483:D28N;ENSP00000303191:D28N	ENSP00000303191:D28N	D	-	1	0	PLRG1	155689465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.435000	0.80391	2.689000	0.91719	0.655000	0.94253	GAT	PLRG1	-	NULL		0.368	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	C	NM_002669		155470015	-1	no_errors	ENST00000393905	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155470015	C	T	155470015	3	4	158	1	0	0	0	0	1	0	0	0	12130	826	29	1	1518	1	PLRG1	4	155470015	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	2222735	155470015	35684261	51	28075										
FGA	2243	genome.wustl.edu	37	chr4	155506809	155506809	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tttcaaatgtggagtctcctCtgttgtaactcgtgctacta	8	9	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr4:155506809C>G	ENST00000302053.3	-	5	1850	c.1772G>C	c.(1771-1773)aGa>aCa	p.R591T	FGA_ENST00000403106.3_Missense_Mutation_p.R591T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	591					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGAGTCTCCTCTGTTGTAACT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)												0													135	130	131					4																	155506809		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1772G>C	4.37:g.155506809C>G	ENSP00000306361:p.Arg591Thr		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R591T	ENST00000302053.3	37	c.1772	CCDS3787.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.881855|1.881855	0.33255|0.33255	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.58797	.|0.31;2.68	6.03|6.03	-5.62|-5.62	0.02481|0.02481	.|.	.|4.629720	.|0.00166	.|N	.|0.000015	T|T	0.49167|0.49167	0.1541|0.1541	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	.|B;B	.|0.21071	.|0.051;0.03	.|B;B	.|0.15052	.|0.012;0.005	T|T	0.40664|0.40664	-0.9551|-0.9551	6|10	0.66056|0.49607	D|T	0.02|0.09	.|.	7.9885|7.9885	0.30226|0.30226	0.0:0.266:0.1906:0.5434|0.0:0.266:0.1906:0.5434	.|.	.|591;591	.|P02671-2;P02671	.|.;FIBA_HUMAN	Q|T	233|591	.|ENSP00000306361:R591T;ENSP00000385981:R591T	ENSP00000407891:E233Q|ENSP00000306361:R591T	E|R	-|-	1|2	0|0	FGA|FGA	155726259|155726259	0.210000|0.210000	0.23517|0.23517	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.182000|-0.182000	0.09726|0.09726	-1.187000|-1.187000	0.02709|0.02709	-0.982000|-0.982000	0.02568|0.02568	GAG|AGA	FGA	-	NULL		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155506809	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	0.015	G	G	155506809	C	G	155506809	3	3	158	1	0	0	0	0	1	0	0	0	5848	913	32	1	880	1	FGA	4	155506809	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	36794	155506809	35647467	52	28076										
ERCC8	1161	genome.wustl.edu	37	chr5	60195471	60195471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tacctgattcaacagcttgtGactttttcccattatgttga	6	9	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:60195471G>A	ENST00000265038.5	-	8	743	c.701C>T	c.(700-702)tCa>tTa	p.S234L	ERCC8_ENST00000426742.2_Missense_Mutation_p.S176L|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Missense_Mutation_p.S81L	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	234					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				AACAGCTTGTGACTTTTTCCC	0.313																																																	0													175	166	169					5																	60195471		2203	4299	6502	SO:0001583	missense	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.701C>T	5.37:g.60195471G>A	ENSP00000265038:p.Ser234Leu		B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S234L	ENST00000265038.5	37	c.701	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419394	0.62622	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	T;T;T	0.73258	-0.73;-0.48;-0.28	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058383	0.64402	D	0.000001	T	0.58509	0.2127	L	0.28054	0.825	0.58432	D	0.999999	B;B	0.19706	0.038;0.012	B;B	0.16722	0.016;0.008	T	0.54728	-0.8250	10	0.12103	T	0.63	-28.4084	18.4566	0.90722	0.0:0.0:1.0:0.0	.	81;234	B4DGZ9;Q13216	.;ERCC8_HUMAN	L	176;234;81;233	ENSP00000400110:S176L;ENSP00000265038:S234L;ENSP00000441732:S81L	ENSP00000265038:S234L	S	-	2	0	ERCC8	60231228	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.032000	0.93736	2.357000	0.79964	0.557000	0.71058	TCA	ERCC8	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.313	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	G	NM_000082		60195471	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	missense	SNP	1.000	A	A	60195471	G	A	60195471	3	1	158	1	0	0	0	0	1	0	0	0	5231	1294	45	1	509	1	ERCC8	5	60195471	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		60195471	120719789	53	28077										
ETF1	2107	genome.wustl.edu	37	chr5	137846286	137846286	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaaatgagatttatccttttCttgctctggagttagataga	9	5	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:137846286C>T	ENST00000360541.5	-	9	1272	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	ETF1_ENST00000499810.2_Missense_Mutation_p.E318K|ETF1_ENST00000503014.1_Missense_Mutation_p.E337K	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	351					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTATCCTTTTCTTGCTCTGGA	0.373																																																	0													124	115	118					5																	137846286		2202	4300	6502	SO:0001583	missense	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1051G>A	5.37:g.137846286C>T	ENSP00000353741:p.Glu351Lys		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.E351K	ENST00000360541.5	37	c.1051	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039137	0.75617	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.93	5.07	0.68467	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.89534	3.04	0.80722	D	1	P;B	0.35507	0.506;0.004	B;B	0.36922	0.236;0.031	T	0.74362	-0.3690	9	0.48119	T	0.1	-10.5397	14.7429	0.69469	0.0:0.9303:0.0:0.0697	.	337;351	B7Z7P8;P62495	.;ERF1_HUMAN	K	318;351;337	.	ENSP00000353741:E351K	E	-	1	0	ETF1	137874185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.471000	0.80985	1.512000	0.48834	0.655000	0.94253	GAA	ETF1	-	pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1		0.373	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	C	NM_004730		137846286	-1	no_errors	ENST00000360541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137846286	C	T	137846286	3	4	158	1	0	0	0	0	1	0	0	0	5280	922	32	1	274	1	ETF1	5	137846286	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	77650815	137846286	43068974	54	28078										
APBB3	10307	genome.wustl.edu	37	chr5	139943250	139943250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cgcagtccccagatcccctcCgttccctgtagagtgggagt	11	15	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:139943250C>T	ENST00000357560.4	-	3	662	c.219G>A	c.(217-219)acG>acA	p.T73T	SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000508496.2_Intron|APBB3_ENST00000511201.2_Silent_p.T73T|APBB3_ENST00000356738.2_Silent_p.T73T|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000358580.5_Silent_p.T73T|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000412920.3_Silent_p.T73T|APBB3_ENST00000354402.5_Silent_p.T73T	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	73						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCCCCTCCGTTCCCTGTA	0.587																																																	0													88	78	82					5																	139943250		2203	4300	6503	SO:0001819	synonymous_variant	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.219G>A	5.37:g.139943250C>T			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.T73	ENST00000357560.4	37	c.219	CCDS4229.1	5																																																																																			APBB3	-	NULL		0.587	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	C	NM_006051		139943250	-1	no_errors	ENST00000356738	ensembl	human	known	70_37	silent	SNP	0.000	T	T	139943250	C	T	139943250	2	4	158	1	0	0	0	0	0	0	0	1	762	639	23	2		2	APBB3	5	139943250	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	2096964	139943250	40972010	55	28079										
PCDHB5	26167	genome.wustl.edu	37	chr5	140517210	140517210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cggtgcccgagggcccctttCcagggcatctggtggacgtg	16	13	1	0	rs140766491		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:140517210C>T	ENST00000231134.5	+	1	2411	c.2194C>T	c.(2194-2196)Cca>Tca	p.P732S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	732					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCCCTTTCCAGGGCATCT	0.652																																																	0													84	101	95					5																	140517210		2203	4300	6503	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2194C>T	5.37:g.140517210C>T	ENSP00000231134:p.Pro732Ser		Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P732S	ENST00000231134.5	37	c.2194	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091202	0.36855	.	.	ENSG00000113209	ENST00000231134	T	0.51071	0.72	4.56	1.59	0.23543	.	.	.	.	.	T	0.56891	0.2016	M	0.92026	3.265	0.09310	N	1	B	0.33238	0.403	B	0.37239	0.244	T	0.53816	-0.8385	9	0.59425	D	0.04	.	8.7159	0.34411	0.0:0.6365:0.2839:0.0796	.	732	Q9Y5E4	PCDB5_HUMAN	S	732	ENSP00000231134:P732S	ENSP00000231134:P732S	P	+	1	0	PCDHB5	140497394	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.993000	0.29680	0.082000	0.17018	-0.431000	0.05894	CCA	PCDHB5	-	NULL		0.652	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	C	NM_015669		140517210	1	no_errors	ENST00000231134	ensembl	human	known	70_37	missense	SNP	0.052	T	T	140517210	C	T	140517210	3	4	158	1	0	0	0	0	1	0	0	0	11569	855	30	1	2196	1	PCDHB5	5	140517210	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	573960	140517210	40398050	56	28080										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140719613	140719613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctactagctcagtttctgaaGactctcttccaggaaccata	6	12	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:140719613G>C	ENST00000394576.2	+	1	1075	c.1075G>C	c.(1075-1077)Gac>Cac	p.D359H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	359	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCTGAAGACTCTCTTCC	0.463																																																	0													85	88	87					5																	140719613		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1075G>C	5.37:g.140719613G>C	ENSP00000378077:p.Asp359His		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D359H	ENST00000394576.2	37	c.1075	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	11.88	1.771081	0.31320	.	.	ENSG00000081853	ENST00000394576	T	0.61040	0.14	5.13	4.24	0.50183	Cadherin (3);Cadherin-like (1);	0.167681	0.27464	U	0.019259	T	0.73799	0.3633	M	0.82823	2.61	0.25967	N	0.982546	D;B	0.69078	0.997;0.203	D;B	0.63877	0.919;0.335	T	0.67205	-0.5729	10	0.72032	D	0.01	.	11.8834	0.52587	0.1408:0.0:0.8592:0.0	.	359;359	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	359	ENSP00000378077:D359H	ENSP00000378077:D359H	D	+	1	0	PCDHGA2	140699797	1.000000	0.71417	0.997000	0.53966	0.167000	0.22549	3.801000	0.55545	2.560000	0.86352	0.561000	0.74099	GAC	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.463	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140719613	1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.997	C	C	140719613	G	C	140719613	3	2	158	1	0	0	0	0	1	0	0	0	11578	942	33	1	1077	1	PCDHGA2	5	140719613	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	202403	140719613	40195647	57	28081										
SGCD	6444	genome.wustl.edu	37	chr5	156016295	156016295	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttacagtgaacattctcaatGaccagactaaagtgctaact	6	9	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:156016295G>A	ENST00000435422.3	+	4	833	c.346G>A	c.(346-348)Gac>Aac	p.D116N	SGCD_ENST00000337851.4_Missense_Mutation_p.D117N|SGCD_ENST00000447401.1_Missense_Mutation_p.D117N|SGCD_ENST00000517913.1_Missense_Mutation_p.D117N	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	116					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTCTCAATGACCAGACTAA	0.388																																																	0													62	57	59					5																	156016295		1889	4106	5995	SO:0001583	missense	6444			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.346G>A	5.37:g.156016295G>A	ENSP00000403003:p.Asp116Asn		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	pfam_Sarcoglycan	p.D117N	ENST00000435422.3	37	c.349	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682373	0.47991	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	4.67	4.67	0.58626	.	0.405259	0.27023	N	0.021301	D	0.85561	0.5725	N	0.03608	-0.345	0.37164	D	0.902711	B;B;B	0.19817	0.0;0.0;0.039	B;B;B	0.24006	0.001;0.0;0.05	T	0.82202	-0.0574	10	0.07030	T	0.85	-2.3472	17.564	0.87914	0.0:0.0:1.0:0.0	.	116;117;117	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	N	117;116;117;117	ENSP00000429378:D117N;ENSP00000403003:D116N;ENSP00000338343:D117N;ENSP00000408324:D117N	ENSP00000338343:D117N	D	+	1	0	SGCD	155948873	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.086000	0.76885	2.154000	0.67381	0.561000	0.74099	GAC	SGCD	-	pfam_Sarcoglycan		0.388	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	G			156016295	1	no_errors	ENST00000337851	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156016295	G	A	156016295	3	1	158	1	0	0	0	0	1	0	0	0	14231	1290	45	1	363	1	SGCD	5	156016295	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	15296682	156016295	24898965	58	28082										
DOCK2	1794	genome.wustl.edu	37	chr5	169186751	169186751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	catctgtcctgcatgatgtaGaaatggtctttgatgcgaag	11	7	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:169186751G>A	ENST00000256935.8	+	24	2499	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	DOCK2_ENST00000520908.1_Missense_Mutation_p.E299K|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	807					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATGATGTAGAAATGGTCTT	0.463																																																	0													268	242	251					5																	169186751		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2419G>A	5.37:g.169186751G>A	ENSP00000256935:p.Glu807Lys		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.E807K	ENST00000256935.8	37	c.2419	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703253	0.88924	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.28895	1.59;1.59;1.59	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	N	0.05177	-0.1	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73380	0.957;0.98	T	0.04915	-1.0918	10	0.02654	T	1	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	299;807	E7ERW7;Q92608	.;DOCK2_HUMAN	K	807;188;299;11	ENSP00000256935:E807K;ENSP00000429283:E299K;ENSP00000428841:E11K	ENSP00000256935:E807K	E	+	1	0	DOCK2	169119329	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.294000	0.89934	2.593000	0.87608	0.655000	0.94253	GAA	DOCK2	-	superfamily_ARM-type_fold		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169186751	1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	1.000	A	A	169186751	G	A	169186751	3	1	158	1	0	0	0	0	1	0	0	0	4697	943	33	1	2513	1	DOCK2	5	169186751	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	13170456	169186751	11728509	59	28083										
FGFR4	2264	genome.wustl.edu	37	chr5	176523330	176523330	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tggcgcccgaggccttgtttGaccgggtgtacacacaccag	13	13	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr5:176523330G>C	ENST00000292408.4	+	15	2232	c.1987G>C	c.(1987-1989)Gac>Cac	p.D663H	FGFR4_ENST00000502906.1_Missense_Mutation_p.D663H|FGFR4_ENST00000393648.2_Missense_Mutation_p.D595H|FGFR4_ENST00000393637.1_Missense_Mutation_p.D623H|FGFR4_ENST00000292410.3_Missense_Mutation_p.D623H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	663	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGCCTTGTTTGACCGGGTGTA	0.647										TSP Lung(9;0.080)																																							0													79	77	78					5																	176523330		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1987G>C	5.37:g.176523330G>C	ENSP00000292408:p.Asp663His		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D663H	ENST00000292408.4	37	c.1987	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	g	23.8	4.459788	0.84317	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92616	0.7654	N	0.20845	0.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93629	0.6954	10	0.51188	T	0.08	.	17.1688	0.86824	0.0:0.0:1.0:0.0	.	595;623;663	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	H	663;595;663;623;623;891	ENSP00000292408:D663H;ENSP00000377259:D595H;ENSP00000424960:D663H;ENSP00000292410:D623H;ENSP00000377254:D623H	ENSP00000292408:D663H	D	+	1	0	FGFR4	176455936	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.866000	0.99616	2.142000	0.66516	0.556000	0.70494	GAC	FGFR4	-	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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.647	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	G			176523330	1	no_errors	ENST00000292408	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176523330	G	C	176523330	3	2	158	1	0	0	0	0	1	0	0	0	5886	1290	45	1	2111	1	FGFR4	5	176523330	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7336579	176523330	4391930	60	28084										
LRRC16A	55604	genome.wustl.edu	37	chr6	25606388	25606388	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agcggaagcaggctccaggtCtcggagctcatccagcacac	12	14	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:25606388C>T	ENST00000329474.6	+	35	4102	c.3734C>T	c.(3733-3735)tCt>tTt	p.S1245F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1245	Poly-Ser.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCTCCAGGTCTCGGAGCTCA	0.582																																																	0													56	66	63					6																	25606388		1933	4148	6081	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3734C>T	6.37:g.25606388C>T	ENSP00000331983:p.Ser1245Phe		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S1245F	ENST00000329474.6	37	c.3734	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213014	0.58452	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17691	2.26	5.85	5.85	0.93711	.	0.458260	0.24022	N	0.042275	T	0.09113	0.0225	L	0.44542	1.39	0.80722	D	1	B;P;B	0.35208	0.134;0.49;0.432	B;B;B	0.32149	0.044;0.11;0.141	T	0.03103	-1.1072	10	0.59425	D	0.04	-2.8044	14.3299	0.66548	0.0:0.9296:0.0:0.0704	.	1245;1239;1200	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	1245;1200	ENSP00000331983:S1245F	ENSP00000331983:S1245F	S	+	2	0	LRRC16A	25714367	0.438000	0.25602	0.908000	0.35775	0.901000	0.52897	3.508000	0.53378	2.753000	0.94483	0.655000	0.94253	TCT	LRRC16A	-	NULL		0.582	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25606388	1	no_errors	ENST00000329474	ensembl	human	novel	70_37	missense	SNP	0.697	T	T	25606388	C	T	25606388	3	4	158	1	0	0	0	0	1	0	0	0	8994	913	32	1	3872	1	LRRC16A	6	25606388	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		25606388	145508679	61	28085										
HIST1H2BC	8347	genome.wustl.edu	37	chr6	26124126	26124126	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gggagcagacttggctggctCaggcatcttaaaacaccaga	12	10	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:26124126C>G	ENST00000314332.5	-	1	12	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E3Q|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TTGGCTGGCTCAGGCATCTTA	0.502																																																	0													73	74	74					6																	26124126		2203	4300	6503	SO:0001583	missense	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.7G>C	6.37:g.26124126C>G	ENSP00000321744:p.Glu3Gln		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E3Q	ENST00000314332.5	37	c.7	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	22.6	4.305700	0.81247	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.18502	2.21;2.21	5.76	5.76	0.90799	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.38562	D	0.949726	B	0.31241	0.315	B	0.20577	0.03	T	0.03278	-1.1053	8	0.72032	D	0.01	.	19.3155	0.94211	0.0:1.0:0.0:0.0	.	3	P62807	H2B1C_HUMAN	Q	3	ENSP00000321744:E3Q;ENSP00000380180:E3Q	ENSP00000321744:E3Q	E	-	1	0	HIST1H2BC	26232105	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	5.585000	0.67497	2.879000	0.98667	0.650000	0.86243	GAG	HIST1H2BC	-	NULL		0.502	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	C	NM_003526		26124126	-1	no_errors	ENST00000314332	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26124126	C	G	26124126	3	3	158	1	0	0	0	0	1	0	0	0	7162	835	29	1	377	1	HIST1H2BC	6	26124126	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	517738	26124126	144990941	62	28086										
TAPBP	6892	genome.wustl.edu	37	chr6	33272263	33272263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cctctgcccctcggccttctGagagcggccccctgggccac	11	20	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:33272263G>A	ENST00000489157.1	-	4	972	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	TAPBP_ENST00000426633.2_Nonsense_Mutation_p.Q341*|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.Q341*|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.Q359*|TAPBP_ENST00000434618.2_Nonsense_Mutation_p.Q341*			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	341					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TCGGCCTTCTGAGAGCGGCCC	0.677																																																	0													20	25	23					6																	33272263		2196	4287	6483	SO:0001587	stop_gained	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.760C>T	6.37:g.33272263G>A	ENSP00000419659:p.Gln254*		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.Q341*	ENST00000489157.1	37	c.1021	CCDS34427.2	6	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222028	0.58560	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	.	.	.	5.27	2.23	0.28157	.	0.682102	0.13826	N	0.360070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-2.6408	7.9919	0.30246	0.0:0.1473:0.5305:0.3222	.	.	.	.	X	341;359;254;341;341;341	.	ENSP00000404833:Q341X	Q	-	1	0	TAPBP	33380241	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	0.564000	0.23563	0.667000	0.31107	0.549000	0.68633	CAG	TAPBP	-	pfam_Ig_C1-set,pfscan_Ig-like		0.677	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33272263	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	33272263	G	A	33272263	4	1	158	1	0	0	0	0	0	1	0	0	15582	1299	45	1	521	1	TAPBP	6	33272263	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7148137	33272263	137842804	63	28087										
BTBD9	114781	genome.wustl.edu	37	chr6	38548069	38548069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctagcttaatctcgatgccgGaacggcagtcatcatcaatt	8	11	4	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:38548069G>A	ENST00000481247.1	-	5	1110	c.959C>T	c.(958-960)tCc>tTc	p.S320F	BTBD9_ENST00000408958.1_Missense_Mutation_p.S252F|BTBD9_ENST00000419706.2_Missense_Mutation_p.S261F|BTBD9_ENST00000403056.1_Missense_Mutation_p.S320F|BTBD9_ENST00000314100.6_Missense_Mutation_p.S252F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	320					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.S252F(1)|p.S320F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CTCGATGCCGGAACGGCAGTC	0.428																																																	2	Substitution - Missense(2)	breast(2)											140	134	136					6																	38548069		1899	4118	6017	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.959C>T	6.37:g.38548069G>A	ENSP00000418751:p.Ser320Phe		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.S320F	ENST00000481247.1	37	c.959	CCDS47418.1	6	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855511	0.51376	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98296	-4.85;-4.85;-1.04;-4.85;-4.85	5.48	5.48	0.80851	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.217432	0.49305	D	0.000141	D	0.96784	0.8950	L	0.34521	1.04	0.58432	D	0.999999	P;D	0.61697	0.593;0.99	B;P	0.56343	0.257;0.796	D	0.95508	0.8583	10	0.15952	T	0.53	.	19.3387	0.94332	0.0:0.0:1.0:0.0	.	261;320	Q494V9;Q96Q07	.;BTBD9_HUMAN	F	252;320;261;320;252	ENSP00000323408:S252F;ENSP00000418751:S320F;ENSP00000415365:S261F;ENSP00000386121:S320F;ENSP00000386211:S252F	ENSP00000323408:S252F	S	-	2	0	BTBD9	38656047	1.000000	0.71417	0.993000	0.49108	0.673000	0.39480	7.817000	0.86213	2.588000	0.87417	0.655000	0.94253	TCC	BTBD9	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.428	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	G	NM_152733		38548069	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	missense	SNP	0.985	A	A	38548069	G	A	38548069	3	1	158	1	0	0	0	0	1	0	0	0	1551	1174	41	1	998	1	BTBD9	6	38548069	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	5275806	38548069	132566998	64	28088										
CUL7	9820	genome.wustl.edu	37	chr6	43020151	43020151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatagtgcccacacactcctCcagctgccgaagggctctct	9	16	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:43020151C>T	ENST00000265348.3	-	2	461	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CUL7_ENST00000535468.1_Missense_Mutation_p.E178K			Q14999	CUL7_HUMAN	cullin 7	126					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACACACTCCTCCAGCTGCCGA	0.582																																																	0													83	68	73					6																	43020151		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.376G>A	6.37:g.43020151C>T	ENSP00000265348:p.Glu126Lys		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E178K	ENST00000265348.3	37	c.532	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404687	0.42613	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.64260	-0.09;-0.06	5.51	4.64	0.57946	Armadillo-like helical (1);	0.132632	0.52532	D	0.000075	T	0.22936	0.0554	N	0.08118	0	0.80722	D	1	P;B	0.38335	0.627;0.002	B;B	0.34652	0.187;0.003	T	0.19910	-1.0291	10	0.48119	T	0.1	-6.8293	9.4078	0.38473	0.1421:0.7851:0.0:0.0728	.	178;126	F5H0L1;Q14999	.;CUL7_HUMAN	K	126;178	ENSP00000265348:E126K;ENSP00000438788:E178K	ENSP00000265348:E126K	E	-	1	0	CUL7	43128129	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	1.956000	0.40382	1.314000	0.45095	0.561000	0.74099	GAG	CUL7	-	superfamily_ARM-type_fold		0.582	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	C	NM_014780		43020151	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43020151	C	T	43020151	3	4	158	1	0	0	0	0	1	0	0	0	4065	864	30	1	4916	1	CUL7	6	43020151	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	4472082	43020151	128094916	65	28089										
RTN4IP1	84816	genome.wustl.edu	37	chr6	107076725	107076725	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	catcatgttctgagtgaatcGaagcacttcattcttcccat	6	11	4	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:107076725G>T	ENST00000369063.3	-	1	637	c.172C>A	c.(172-174)Cga>Aga	p.R58R	RTN4IP1_ENST00000539449.1_Silent_p.R58R|QRSL1_ENST00000369046.4_5'Flank|QRSL1_ENST00000369044.1_5'Flank	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	58						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TGAGTGAATCGAAGCACTTCA	0.408																																																	0													152	132	139					6																	107076725		2203	4300	6503	SO:0001819	synonymous_variant	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.172C>A	6.37:g.107076725G>T			Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.R58	ENST00000369063.3	37	c.172	CCDS5056.1	6																																																																																			RTN4IP1	-	superfamily_GroES-like,smart_PKS_ER		0.408	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	G			107076725	-1	no_errors	ENST00000369063	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107076725	G	T	107076725	2	4	158	1	0	0	0	0	0	0	0	1	13759	1066	37	3		3	RTN4IP1	6	107076725	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	64056574	107076725	64038342	66	28090										
RNF217	154214	genome.wustl.edu	37	chr6	125379248	125379248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgcccagaagtgtccaaagtGcaaggtgagataacttttag	11	7	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:125379248G>A	ENST00000521654.2	+	3	1277	c.1277G>A	c.(1276-1278)tGc>tAc	p.C426Y	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Missense_Mutation_p.C134Y|RNF217_ENST00000560949.1_Missense_Mutation_p.C191Y|RNF217_ENST00000275184.6_Missense_Mutation_p.C70Y			Q8TC41	RN217_HUMAN	ring finger protein 217	426					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TGTCCAAAGTGCAAGGTGAGA	0.398																																																	0													74	70	71					6																	125379248		2203	4300	6503	SO:0001583	missense	154214			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1277G>A	6.37:g.125379248G>A	ENSP00000428698:p.Cys426Tyr		H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC	p.C191Y	ENST00000521654.2	37	c.572		6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429370	0.83776	.	.	ENSG00000146373	ENST00000521654;ENST00000359704;ENST00000275184	D;D	0.99458	-5.93;-5.93	5.37	5.37	0.77165	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97598	1.0121	10	0.87932	D	0	.	19.4677	0.94950	0.0:0.0:1.0:0.0	.	134;191	Q8TC41;F2Z2M4	RN217_HUMAN;.	Y	191;134;70	ENSP00000352734:C134Y;ENSP00000275184:C70Y	ENSP00000275184:C70Y	C	+	2	0	RNF217	125420947	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.420000	0.97426	2.693000	0.91896	0.579000	0.79373	TGC	RNF217	-	pfam_Znf_C6HC,smart_Znf_C6HC		0.398	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	G	NM_152553		125379248	1	no_errors	ENST00000560949	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125379248	G	A	125379248	3	1	158	1	0	0	0	0	1	0	0	0	13511	1319	46	4	411	4	RNF217	6	125379248	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	18302523	125379248	45735819	67	28091										
PDE7B	27115	genome.wustl.edu	37	chr6	136476786	136476786	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttgccagcttcctcacgcctCtggacatcatgcttggactg	9	14	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:136476786C>G	ENST00000308191.6	+	8	904	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	201	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCTCACGCCTCTGGACATCAT	0.438																																																	0													69	65	66					6																	136476786		2203	4300	6503	SO:0001583	missense	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.601C>G	6.37:g.136476786C>G	ENSP00000310661:p.Leu201Val		Q5W154	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L201V	ENST00000308191.6	37	c.601	CCDS5175.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.297064|3.297064	0.60086|0.60086	.|.	.|.	ENSG00000171408|ENSG00000171408	ENST00000308191;ENST00000367787|ENST00000446774	D|.	0.83914|.	-1.78|.	5.56|5.56	4.69|4.69	0.59074|0.59074	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.071641|.	0.56097|.	D|.	0.000024|.	T|T	0.41834|0.41834	0.1176|0.1176	L|L	0.45228|0.45228	1.405|1.405	0.44330|0.44330	D|D	0.997214|0.997214	P;P|.	0.50819|.	0.939;0.661|.	P;P|.	0.50590|.	0.645;0.497|.	T|T	0.40040|0.40040	-0.9584|-0.9584	10|5	0.66056|.	D|.	0.02|.	.|.	8.8564|8.8564	0.35231|0.35231	0.0:0.7621:0.0:0.2379|0.0:0.7621:0.0:0.2379	.|.	253;201|.	A1E5M1;Q9NP56|.	.;PDE7B_HUMAN|.	V|C	201;337|95	ENSP00000310661:L201V|.	ENSP00000310661:L201V|.	L|S	+|+	1|2	2|0	PDE7B|PDE7B	136518479|136518479	0.310000|0.310000	0.24527|0.24527	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.724000|0.724000	0.25954|0.25954	1.482000|1.482000	0.48325|0.48325	0.650000|0.650000	0.86243|0.86243	CTG|TCT	PDE7B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.438	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	HGNC	protein_coding	OTTHUMT00000042371.1	C			136476786	1	no_errors	ENST00000308191	ensembl	human	known	70_37	missense	SNP	0.998	G	G	136476786	C	G	136476786	3	3	158	1	0	0	0	0	1	0	0	0	11676	912	32	1	631	1	PDE7B	6	136476786	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	11097538	136476786	34638281	68	28092										
IFNGR1	3459	genome.wustl.edu	37	chr6	137527314	137527314	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cttctgactttgcataggcaGattctttttgtccaaccctg	7	11	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:137527314G>C	ENST00000367739.4	-	3	453	c.332C>G	c.(331-333)tCt>tGt	p.S111C	IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000367735.2_Missense_Mutation_p.S101C|IFNGR1_ENST00000543628.1_Missense_Mutation_p.S83C	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	111					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCATAGGCAGATTCTTTTTG	0.333																																																	0													120	118	119					6																	137527314		2203	4300	6503	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.332C>G	6.37:g.137527314G>C	ENSP00000356713:p.Ser111Cys		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S111C	ENST00000367739.4	37	c.332	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075012	0.55646	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.8	5.8	0.92144	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.82716	2.605	0.49299	D	0.999772	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.89961	0.4086	10	0.87932	D	0	-21.5018	15.5631	0.76266	0.0:0.0:1.0:0.0	.	101;83;111	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	C	111;111;83;77;101;101	ENSP00000356713:S111C;ENSP00000443282:S83C;ENSP00000389249:S77C;ENSP00000356709:S101C;ENSP00000394230:S101C	ENSP00000356709:S101C	S	-	2	0	IFNGR1	137569007	1.000000	0.71417	0.961000	0.40146	0.240000	0.25518	5.277000	0.65586	2.735000	0.93741	0.655000	0.94253	TCT	IFNGR1	-	superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu		0.333	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137527314	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	missense	SNP	0.985	C	C	137527314	G	C	137527314	3	2	158	1	0	0	0	0	1	0	0	0	7569	942	33	1	1157	1	IFNGR1	6	137527314	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	1050528	137527314	33587753	69	28093										
SHPRH	257218	genome.wustl.edu	37	chr6	146275945	146275945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctccaccagaatacccttgtCacaaatactcatcggttctt	4	14	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:146275945C>T	ENST00000367505.2	-	2	778	c.514G>A	c.(514-516)Gac>Aac	p.D172N	SHPRH_ENST00000438092.2_Missense_Mutation_p.D172N|SHPRH_ENST00000275233.7_Missense_Mutation_p.D172N|SHPRH_ENST00000367503.3_Missense_Mutation_p.D172N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	172					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATACCCTTGTCACAAATACTC	0.368																																																	0													114	104	107					6																	146275945		1827	4089	5916	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.514G>A	6.37:g.146275945C>T	ENSP00000356475:p.Asp172Asn		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.D172N	ENST00000367505.2	37	c.514	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	8.606	0.887921	0.17540	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.66	4.78	0.61160	.	0.776501	0.11614	N	0.546457	T	0.36331	0.0963	L	0.36672	1.1	0.09310	N	0.999995	B;B;B;P	0.37276	0.034;0.047;0.078;0.589	B;B;B;B	0.28011	0.036;0.024;0.053;0.085	T	0.16158	-1.0412	10	0.30078	T	0.28	-4.1158	15.0315	0.71710	0.0:0.9307:0.0:0.0693	.	61;172;172;61	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	N	172;172;172;172;61	ENSP00000356475:D172N;ENSP00000356473:D172N;ENSP00000412797:D172N;ENSP00000275233:D172N	ENSP00000275233:D172N	D	-	1	0	SHPRH	146317638	0.029000	0.19370	0.124000	0.21820	0.156000	0.22039	2.156000	0.42310	1.365000	0.46057	0.655000	0.94253	GAC	SHPRH	-	NULL		0.368	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	C	NM_173082		146275945	-1	no_errors	ENST00000367503	ensembl	human	known	70_37	missense	SNP	0.492	T	T	146275945	C	T	146275945	3	4	158	1	0	0	0	0	1	0	0	0	14321	826	29	1	4697	1	SHPRH	6	146275945	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	8748631	146275945	24839122	70	28094										
TMEM181	57583	genome.wustl.edu	37	chr6	159029698	159029698	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tttttctttttagggagaaaGaaagtgtttaactttctatt	7	3	2	2	rs139585306		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:159029698G>C	ENST00000367090.3	+	10	1234	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	408					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TAGGGAGAAAGAAAGTGTTTA	0.328																																																	0													136	127	130					6																	159029698		1821	4086	5907	SO:0001583	missense	57583			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1223G>C	6.37:g.159029698G>C	ENSP00000356057:p.Arg408Thr		Q5VTU1	Missense_Mutation	SNP	NULL	p.R408T	ENST00000367090.3	37	c.1223	CCDS43520.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981038	0.74474	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.58797	0.31	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.73316	-0.4021	10	0.62326	D	0.03	.	18.4811	0.90812	0.0:0.0:1.0:0.0	.	408	Q9P2C4	TM181_HUMAN	T	315;408	ENSP00000356057:R408T	ENSP00000323755:R315T	R	+	2	0	TMEM181	158949686	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.013000	0.76373	2.652000	0.90054	0.655000	0.94253	AGA	TMEM181	-	NULL		0.328	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM181	HGNC	protein_coding	OTTHUMT00000042873.1	G	NM_020823		159029698	1	no_errors	ENST00000367090	ensembl	human	known	70_37	missense	SNP	0.997	C	C	159029698	G	C	159029698	3	2	158	1	0	0	0	0	1	0	0	0	16130	942	33	1	1261	1	TMEM181	6	159029698	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	12753753	159029698	12085369	71	28095										
TCP10	6953	genome.wustl.edu	37	chr6	167786724	167786724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaaattcactcgggaaaccgGaccgccggcagtcatctgcc	11	14	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr6:167786724G>A	ENST00000397829.4	-	8	1081	c.914C>T	c.(913-915)tCc>tTc	p.S305F	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	332						cytosol (GO:0005829)		p.S305F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGGAAACCGGACCGCCGGCA	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											111	111	111					6																	167786724		1860	4098	5958	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.914C>T	6.37:g.167786724G>A	ENSP00000380929:p.Ser305Phe		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.S305F	ENST00000397829.4	37	c.914	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	g	4.544	0.100917	0.08731	.	.	ENSG00000203690	ENST00000397829	T	0.24908	1.83	1.83	-3.66	0.04489	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	0.999999	B	0.15719	0.014	B	0.06405	0.002	T	0.39143	-0.9628	9	0.72032	D	0.01	.	2.7736	0.05341	0.4347:0.0:0.2087:0.3566	.	332	Q12799	TCP10_HUMAN	F	305	ENSP00000380929:S305F	ENSP00000380929:S305F	S	-	2	0	TCP10	167706714	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.495000	0.06443	-1.720000	0.01380	-0.362000	0.07510	TCC	TCP10	-	NULL		0.552	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	G	NM_004610		167786724	-1	no_errors	ENST00000397829	ensembl	human	known	70_37	missense	SNP	0.000	A	A	167786724	G	A	167786724	3	1	158	1	0	0	0	0	1	0	0	0	15740	1174	41	1	70	1	TCP10	6	167786724	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	8757026	167786724	3328343	72	28096										
ZNF12	7559	genome.wustl.edu	37	chr7	6730664	6730664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agagaaggcttttccacactCattacattcaaagggtttct	7	9	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:6730664C>G	ENST00000405858.1	-	5	2450	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.E563Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.E599Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	637					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTCCACACTCATTACATTCA	0.393																																																	0													89	95	93					7																	6730664		2201	4300	6501	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1909G>C	7.37:g.6730664C>G	ENSP00000385939:p.Glu637Gln		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E637Q	ENST00000405858.1	37	c.1909	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.572633	0.00887	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.18502	2.21;2.21;2.21	4.17	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173614	0.27739	N	0.018052	T	0.06690	0.0171	N	0.12611	0.24	0.09310	N	1	P;B	0.41524	0.753;0.172	B;B	0.31101	0.124;0.018	T	0.31251	-0.9950	10	0.39692	T	0.17	.	7.9416	0.29961	0.0:0.7144:0.0:0.2856	.	637;599	P17014;P17014-5	ZNF12_HUMAN;.	Q	563;637;599;695	ENSP00000384405:E563Q;ENSP00000385939:E637Q;ENSP00000344745:E599Q	ENSP00000344745:E599Q	E	-	1	0	ZNF12	6697189	0.000000	0.05858	0.017000	0.16124	0.514000	0.34195	-0.109000	0.10840	0.313000	0.23062	0.650000	0.86243	GAG	ZNF12	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	C	NM_016265		6730664	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	missense	SNP	0.000	G	G	6730664	C	G	6730664	3	3	158	1	0	0	0	0	1	0	0	0	17748	835	29	1	188	1	ZNF12	7	6730664	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		6730664	152407999	73	28097										
HECW1	23072	genome.wustl.edu	37	chr7	43484020	43484020	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tagagctttccagaccagctGaggaagcagcagtcatcacg	11	11	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:43484020G>T	ENST00000395891.2	+	11	1854	c.1249G>T	c.(1249-1251)Gag>Tag	p.E417*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E417*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	417					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGACCAGCTGAGGAAGCAGC	0.612																																																	0													34	37	36					7																	43484020		2091	4228	6319	SO:0001587	stop_gained	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1249G>T	7.37:g.43484020G>T	ENSP00000379228:p.Glu417*		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E417*	ENST00000395891.2	37	c.1249	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	39	7.507832	0.98325	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	4.98	4.98	0.66077	.	7739.210000	0.00357	N	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.88	0.46933	0.1493:0.0:0.8507:0.0	.	.	.	.	X	417	.	ENSP00000265522:E417X	E	+	1	0	HECW1	43450545	0.995000	0.38212	0.991000	0.47740	0.039000	0.13416	2.402000	0.44521	2.679000	0.91253	0.655000	0.94253	GAG	HECW1	-	NULL		0.612	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484020	1	no_errors	ENST00000395891	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	43484020	G	T	43484020	4	4	158	1	0	0	0	0	0	1	0	0	7062	1291	45	3	1283	3	HECW1	7	43484020	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	36753356	43484020	115654643	74	28098										
TNS3	64759	genome.wustl.edu	37	chr7	47408885	47408885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctggcaccacgtggcgggtcCcactgtacttgcttcgagca	12	14	0	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:47408885C>T	ENST00000398879.1	-	17	1724	c.1358G>A	c.(1357-1359)gGg>gAg	p.G453E	TNS3_ENST00000311160.9_Missense_Mutation_p.G453E|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	453					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTGGCGGGTCCCACTGTACTT	0.577																																																	0													71	76	74					7																	47408885		2130	4237	6367	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1358G>A	7.37:g.47408885C>T	ENSP00000381854:p.Gly453Glu		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G453E	ENST00000398879.1	37	c.1358	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446352	0.63178	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.45	5.45	0.79879	.	0.304354	0.30901	N	0.008642	T	0.42854	0.1221	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24941	-1.0146	10	0.59425	D	0.04	-33.8379	16.7473	0.85476	0.0:1.0:0.0:0.0	.	453	Q68CZ2	TENS3_HUMAN	E	453;563;453;556;542	ENSP00000312143:G453E;ENSP00000381854:G453E;ENSP00000414358:G556E;ENSP00000396914:G542E	ENSP00000312143:G453E	G	-	2	0	TNS3	47375410	0.203000	0.23435	0.535000	0.28026	0.297000	0.27493	2.900000	0.48687	2.544000	0.85801	0.655000	0.94253	GGG	TNS3	-	NULL		0.577	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	C	NM_022748		47408885	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47408885	C	T	47408885	3	4	158	1	0	0	0	0	1	0	0	0	16374	623	22	4	3039	4	TNS3	7	47408885	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	3924865	47408885	111729778	75	28099										
HEPACAM2	253012	genome.wustl.edu	37	chr7	92848495	92848495	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cttcacgatgtaattgccttCatcagggaactgcagtgggt	11	9	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:92848495C>A	ENST00000394468.2	-	2	426	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E105*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E140*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E105*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	117					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAATTGCCTTCATCAGGGAAC	0.463																																																	0													145	122	130					7																	92848495		2203	4300	6503	SO:0001587	stop_gained	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.349G>T	7.37:g.92848495C>A	ENSP00000377980:p.Glu117*		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E117*	ENST00000394468.2	37	c.349	CCDS43616.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.626602	0.97718	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.72	5.72	0.89469	.	0.046168	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-25.9799	20.269	0.98464	0.0:1.0:0.0:0.0	.	.	.	.	X	117;105;105;140	.	ENSP00000340532:E105X	E	-	1	0	HEPACAM2	92686431	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.881000	0.69706	2.878000	0.98634	0.650000	0.86243	GAA	HEPACAM2	-	pfam_Ig_V-set,smart_Ig_sub		0.463	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	C	NM_198151		92848495	-1	no_errors	ENST00000394468	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	92848495	C	A	92848495	4	1	158	1	0	0	0	0	0	1	0	0	7073	835	29	3	1075	3	HEPACAM2	7	92848495	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	45439610	92848495	66290168	76	28100										
ZNF655	79027	genome.wustl.edu	37	chr7	99169959	99169959	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aaagtgagagtaggaagactCaaacacgatattacccaagt	9	7	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:99169959C>T	ENST00000394163.2	+	3	411	c.228C>T	c.(226-228)ctC>ctT	p.L76L	GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000493277.1_Silent_p.L111L|ZNF655_ENST00000424881.1_Silent_p.L111L|ZNF655_ENST00000252713.4_Silent_p.L76L|ZNF655_ENST00000425063.1_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	76					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TAGGAAGACTCAAACACGATA	0.393																																																	0													80	81	80					7																	99169959		2203	4299	6502	SO:0001819	synonymous_variant	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.228C>T	7.37:g.99169959C>T			A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L111	ENST00000394163.2	37	c.333	CCDS5669.1	7																																																																																			ZNF655	-	NULL		0.393	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ZNF655	HGNC	protein_coding	OTTHUMT00000344929.1	C	NM_138494		99169959	1	no_errors	ENST00000424881	ensembl	human	known	70_37	silent	SNP	0.998	T	T	99169959	C	T	99169959	2	4	158	1	0	0	0	0	0	0	0	1	18098	813	29	1		1	ZNF655	7	99169959	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	6321464	99169959	59968704	77	28101										
ACTL6B	51412	genome.wustl.edu	37	chr7	100252740	100252740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcggaagcactcccagtcctCgactggggccagaagagcag	13	13	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:100252740C>T	ENST00000160382.5	-	4	377	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	91					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)					TCCCAGTCCTCGACTGGGGCC	0.597																																																	0													136	99	112					7																	100252740		2203	4300	6503	SO:0001583	missense	51412			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.271G>A	7.37:g.100252740C>T	ENSP00000160382:p.Glu91Lys		A4D2D0|O75421	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E91K	ENST00000160382.5	37	c.271	CCDS5702.1	7	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206127	0.79127	.	.	ENSG00000077080	ENST00000160382;ENST00000461605	D;D	0.94613	-3.47;-3.47	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000015	D	0.95541	0.8551	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.95436	0.8521	10	0.49607	T	0.09	.	15.7457	0.77939	0.0:1.0:0.0:0.0	.	91	O94805	ACL6B_HUMAN	K	91;10	ENSP00000160382:E91K;ENSP00000420151:E10K	ENSP00000160382:E91K	E	-	1	0	ACTL6B	100090676	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.543000	0.82106	2.323000	0.78572	0.462000	0.41574	GAG	ACTL6B	-	pfam_Actin-like,smart_Actin-like		0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6B	HGNC	protein_coding	OTTHUMT00000356745.1	C	NM_016188		100252740	-1	no_errors	ENST00000160382	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100252740	C	T	100252740	3	4	158	1	0	0	0	0	1	0	0	0	199	893	31	1	1053	1	ACTL6B	7	100252740	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1082781	100252740	58885923	78	28102										
IMPDH1	3614	genome.wustl.edu	37	chr7	128043784	128043784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcatcagctatgaagtctatGaatcctgggagaatcaggaa	10	7	4	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:128043784G>C	ENST00000480861.1	-	2	200	c.123C>G	c.(121-123)ttC>ttG	p.F41L	IMPDH1_ENST00000378717.4_Missense_Mutation_p.F57L|IMPDH1_ENST00000354269.5_Missense_Mutation_p.F116L|IMPDH1_ENST00000343214.4_Missense_Mutation_p.F41L|IMPDH1_ENST00000419067.2_Missense_Mutation_p.F93L|IMPDH1_ENST00000338791.6_Missense_Mutation_p.F126L|IMPDH1_ENST00000348127.6_Missense_Mutation_p.F90L|IMPDH1_ENST00000470772.1_Missense_Mutation_p.F41L|IMPDH1_ENST00000496200.1_Missense_Mutation_p.F41L	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TGAAGTCTATGAATCCTGGGA	0.547																																																	0													124	108	114					7																	128043784		2203	4300	6503	SO:0001583	missense	3614				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.123C>G	7.37:g.128043784G>C	ENSP00000420185:p.Phe41Leu			Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH	p.F126L	ENST00000480861.1	37	c.378	CCDS55161.1	7	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508978	0.64410	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.09;-1.07	5.24	5.24	0.73138	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.100440	0.64402	D	0.000001	T	0.71204	0.3312	L	0.27053	0.805	0.58432	D	0.999998	B;B;B;B;B;B;B;B	0.23806	0.041;0.029;0.029;0.091;0.046;0.007;0.009;0.023	B;B;B;B;B;B;B;B	0.33690	0.06;0.12;0.068;0.119;0.168;0.017;0.029;0.073	T	0.67665	-0.5612	10	0.38643	T	0.18	-28.0	16.3295	0.83004	0.0:0.0:1.0:0.0	.	93;41;41;57;116;90;126;41	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	L	93;126;41;116;57;90;41;41;41;57;57	ENSP00000399400:F93L;ENSP00000345096:F126L;ENSP00000420803:F41L;ENSP00000346219:F116L;ENSP00000367989:F57L;ENSP00000265385:F90L;ENSP00000342438:F41L;ENSP00000417296:F41L;ENSP00000420185:F41L;ENSP00000419609:F57L;ENSP00000418592:F57L	ENSP00000345096:F126L	F	-	3	2	IMPDH1	127831020	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.106000	0.71511	2.448000	0.82819	0.561000	0.74099	TTC	IMPDH1	-	pfam_IMP_DH_GMPRt,tigrfam_IMP_DH		0.547	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	G	NM_000883		128043784	-1	no_errors	ENST00000338791	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128043784	G	C	128043784	3	2	158	1	0	0	0	0	1	0	0	0	7746	1281	45	1	1473	1	IMPDH1	7	128043784	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	27791044	128043784	31094879	79	28103										
IRF5	3663	genome.wustl.edu	37	chr7	128587362	128587362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtggccgcccactctgcagcCgcccactctgcggccgccta	11	20	2	0	rs199508964|rs60344245	byFrequency	TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr7:128587362C>T	ENST00000402030.2	+	6	584	c.512C>T	c.(511-513)cCg>cTg	p.P171L	IRF5_ENST00000473745.1_Missense_Mutation_p.P171L|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000357234.5_Missense_Mutation_p.P187L|IRF5_ENST00000249375.4_Missense_Mutation_p.P171L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	171					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACTCTGCAGCCGCCCACTCTG	0.657																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											8	10	9					7																	128587362		2105	4225	6330	SO:0001583	missense	3663				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.512C>T	7.37:g.128587362C>T	ENSP00000385352:p.Pro171Leu		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.P187L	ENST00000402030.2	37	c.560	CCDS5808.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	4.202|4.202|4.202	0.036307|0.036307|0.036307	0.08148|0.08148|0.08148	.|.|.	.|.|.	ENSG00000128604|ENSG00000128604|ENSG00000128604	ENST00000412326|ENST00000357234;ENST00000402030;ENST00000249375;ENST00000473745|ENST00000430204	.|D;D;D;D|.	.|0.97598|.	.|-4.45;-4.4;-4.4;-4.4|.	.|.|.	.|.|.	.|.|.	.|.|.	.|1.324570|.	.|0.05438|.	.|N|.	.|0.547170|.	.|T|T	.|0.44265|0.44265	.|0.1285|0.1285	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.23198|0.23198|0.23198	N|N|N	0.998138|0.998138|0.998138	.|P;.|.	.|0.34837|.	.|0.472;.|.	.|B;.|.	.|0.28139|.	.|0.086;.|.	.|T|T	.|0.42172|0.42172	.|-0.9467|-0.9467	.|8|4	.|0.25106|0.62326	.|T|D	.|0.35|0.03	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|171;187|160	.|Q13568;Q13568-2|E9PC81	.|IRF5_HUMAN;.|.	.|L|C	-1|187;171;171;171|160	.|ENSP00000349770:P187L;ENSP00000385352:P171L;ENSP00000249375:P171L;ENSP00000419149:P171L|.	.|ENSP00000249375:P171L|ENSP00000409106:R160C	.|P|R	+|+|+	.|2|1	.|0|0	IRF5|IRF5|IRF5	128374598|128374598|128374598	0.019000|0.019000|0.019000	0.18553|0.18553|0.18553	0.335000|0.335000|0.335000	0.25508|0.25508|0.25508	0.069000|0.069000|0.069000	0.16628|0.16628|0.16628	0.105000|0.105000|0.105000	0.15333|0.15333|0.15333	0.119000|0.119000|0.119000	0.18210|0.18210|0.18210	0.121000|0.121000|0.121000	0.15741|0.15741|0.15741	.|CCG|CGC	IRF5	-	NULL		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	C	NM_001098627		128587362	1	no_errors	ENST00000357234	ensembl	human	known	70_37	missense	SNP	0.317	T	T	128587362	C	T	128587362	3	4	158	1	0	0	0	0	1	0	0	0	7853	652	23	2	578	2	IRF5	7	128587362	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	543578	128587362	30551301	80	28104										
DLGAP2	9228	genome.wustl.edu	37	chr8	1616650	1616650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggatgtccccgtggccccagGacagccgcggcctctacaac	12	17	1	0	rs370770474		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:1616650G>C	ENST00000421627.2	+	6	1860	c.1726G>C	c.(1726-1728)Gac>Cac	p.D576H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	655					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GTGGCCCCAGGACAGCCGCGG	0.667																																																	0													12	18	16					8																	1616650		2082	4185	6267	SO:0001583	missense	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1726G>C	8.37:g.1616650G>C	ENSP00000400258:p.Asp576His		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.D576H	ENST00000421627.2	37	c.1726	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.89|19.89	3.910926|3.910926	0.72983|0.72983	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19806|.	2.12|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.085855|.	0.85682|.	D|.	0.000000|.	T|T	0.75309|0.75309	0.3832|0.3832	M|M	0.67953|0.67953	2.075|2.075	0.43191|0.43191	D|D	0.995021|0.995021	D;D|.	0.76494|.	0.999;0.978|.	D;P|.	0.71414|.	0.973;0.867|.	T|T	0.73372|0.73372	-0.4003|-0.4003	10|5	0.72032|.	D|.	0.01|.	-9.8252|-9.8252	19.458|19.458	0.94903|0.94903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	655;655|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	H|S	621;576|592	ENSP00000400258:D576H|.	ENSP00000348366:D621H|.	D|R	+|+	1|3	0|2	DLGAP2|DLGAP2	1604057|1604057	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.731000|0.731000	0.41821|0.41821	4.858000|4.858000	0.62947|0.62947	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	GAC|AGG	DLGAP2	-	NULL		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	G	NM_004745		1616650	1	no_errors	ENST00000421627	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1616650	G	C	1616650	3	2	158	1	0	0	0	0	1	0	0	0	4570	1174	41	1	1744	1	DLGAP2	8	1616650	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		1616650	144747372	81	28105										
BIN3	55909	genome.wustl.edu	37	chr8	22494060	22494060	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggtctgcgtcggtgctcttCttcatgtctttctgcagcct	10	12	6	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:22494060C>T	ENST00000276416.6	-	4	206	c.138G>A	c.(136-138)aaG>aaA	p.K46K	BIN3_ENST00000399977.4_Intron|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Intron|BIN3_ENST00000520292.1_Silent_p.K46K	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	46	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CGGTGCTCTTCTTCATGTCTT	0.647																																																	0													109	130	123					8																	22494060		1967	4023	5990	SO:0001819	synonymous_variant	55909				CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.138G>A	8.37:g.22494060C>T			Q9BVG2|Q9NVY9	Silent	SNP	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.K46	ENST00000276416.6	37	c.138	CCDS47825.1	8																																																																																			BIN3	-	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom		0.647	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375895.1	C			22494060	-1	no_errors	ENST00000276416	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22494060	C	T	22494060	2	4	158	1	0	0	0	0	0	0	0	1	1435	912	32	1		1	BIN3	8	22494060	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	20877410	22494060	123869962	82	28106										
ADRA1A	148	genome.wustl.edu	37	chr8	26722096	26722096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatggttgggtagcgcagcgGgtagctcacgccgatgtagc	17	9	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:26722096G>A	ENST00000519229.1	-	1	397	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S	ADRA1A_ENST00000380587.1_Missense_Mutation_p.P131S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.P131S|ADRA1A_ENST00000358857.5_Missense_Mutation_p.P131S|ADRA1A_ENST00000380573.3_Missense_Mutation_p.P131S|ADRA1A_ENST00000276393.4_Missense_Mutation_p.P131S|ADRA1A_ENST00000380581.2_Missense_Mutation_p.P131S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.P131S|ADRA1A_ENST00000380572.3_Missense_Mutation_p.P131S|ADRA1A_ENST00000354550.4_Missense_Mutation_p.P131S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	201					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TAGCGCAGCGGGTAGCTCACG	0.612																																																	0													77	76	77					8																	26722096		2203	4300	6503	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.391C>T	8.37:g.26722096G>A	ENSP00000430793:p.Pro131Ser		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.P131S	ENST00000519229.1	37	c.391		8	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200316	0.58126	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.69185	2.1	0.80722	D	1	P;P;P;P;D;P	0.89917	0.815;0.815;0.88;0.815;1.0;0.88	B;B;P;B;D;P	0.91635	0.421;0.421;0.773;0.421;0.999;0.773	T	0.68205	-0.5470	10	0.16896	T	0.51	.	17.898	0.88895	0.0:0.0:1.0:0.0	.	131;131;131;131;131;131	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	S	131	ENSP00000369960:P131S;ENSP00000369961:P131S;ENSP00000369956:P131S;ENSP00000369955:P131S;ENSP00000430793:P131S;ENSP00000346557:P131S;ENSP00000276393:P131S;ENSP00000369947:P131S;ENSP00000369946:P131S;ENSP00000351725:P131S	ENSP00000276393:P131S	P	-	1	0	ADRA1A	26778013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.365000	0.80145	0.563000	0.77884	CCG	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.612	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	G	NM_033303		26722096	-1	no_errors	ENST00000380586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26722096	G	A	26722096	3	1	158	1	0	0	0	0	1	0	0	0	334	1232	43	4	1308	4	ADRA1A	8	26722096	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	4228036	26722096	119641926	83	28107										
TRIM35	23087	genome.wustl.edu	37	chr8	27145094	27145094	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tccagttcttccttgacactGatgtgcaaggggcagatgcg	12	10	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:27145094G>A	ENST00000305364.4	-	6	1538	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	485	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCTTGACACTGATGTGCAAGG	0.632																																																	0													17	17	17					8																	27145094		2201	4297	6498	SO:0001819	synonymous_variant	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1455C>T	8.37:g.27145094G>A			Q86XQ0|Q8WVA4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I485	ENST00000305364.4	37	c.1455	CCDS6056.2	8																																																																																			TRIM35	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.632	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	G	NM_171982		27145094	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	silent	SNP	0.211	A	A	27145094	G	A	27145094	2	1	158	1	0	0	0	0	0	0	0	1	16540	1280	45	1		1	TRIM35	8	27145094	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	422998	27145094	119218928	84	28108										
WRN	7486	genome.wustl.edu	37	chr8	31012235	31012235	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctttcacagtctatggccatCacatactctttattccaaga	4	12	4	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:31012235C>T	ENST00000298139.5	+	32	4032	c.3783C>T	c.(3781-3783)atC>atT	p.I1261I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1261					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTATGGCCATCACATACTCTT	0.348			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													88	82	84					8																	31012235		2203	4298	6501	SO:0001819	synonymous_variant	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3783C>T	8.37:g.31012235C>T			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.I1261	ENST00000298139.5	37	c.3783	CCDS6082.1	8																																																																																			WRN	-	NULL		0.348	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	C			31012235	1	no_errors	ENST00000298139	ensembl	human	known	70_37	silent	SNP	0.994	T	T	31012235	C	T	31012235	2	4	158	1	0	0	0	0	0	0	0	1	17433	816	29	1		1	WRN	8	31012235	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	3867141	31012235	115351787	85	28109										
SFRP1	6422	genome.wustl.edu	37	chr8	41122839	41122839	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	atgatgaggaagtggtggctGaggttgtccagctggtggca	18	5	0	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:41122839G>C	ENST00000220772.3	-	3	1129	c.792C>G	c.(790-792)ctC>ctG	p.L264L	SFRP1_ENST00000379845.3_Silent_p.L128L	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	264	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			AGTGGTGGCTGAGGTTGTCCA	0.532																																																	0													137	118	124					8																	41122839		2203	4300	6503	SO:0001819	synonymous_variant	6422			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"Secreted frizzled-related proteins"	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.792C>G	8.37:g.41122839G>C			O00546|O14779	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.L264	ENST00000220772.3	37	c.792	CCDS34886.1	8																																																																																			SFRP1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.532	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP1	HGNC	protein_coding	OTTHUMT00000377132.1	G	NM_003012		41122839	-1	no_errors	ENST00000220772	ensembl	human	known	70_37	silent	SNP	0.969	C	C	41122839	G	C	41122839	2	2	158	1	0	0	0	0	0	0	0	1	14191	1277	45	1		1	SFRP1	8	41122839	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	10110604	41122839	105241183	86	28110										
LYN	4067	genome.wustl.edu	37	chr8	56910991	56910991	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gttctggtctccgagtcactCatgtgcaaaattgcagattt	9	9	4	1	rs1050875		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:56910991C>G	ENST00000519728.1	+	11	1433	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000520220.2_Silent_p.L358L	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCGAGTCACTCATGTGCAAAA	0.423																																																	0													118	113	114					8																	56910991		2203	4300	6503	SO:0001819	synonymous_variant	4067			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1137C>G	8.37:g.56910991C>G			A0AVQ5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L379	ENST00000519728.1	37	c.1137	CCDS6162.1	8																																																																																			LYN	-	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,pfscan_Prot_kinase_cat_dom		0.423	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	C	NM_002350		56910991	1	no_errors	ENST00000519728	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56910991	C	G	56910991	2	3	158	1	0	0	0	0	0	0	0	1	9130	813	29	1		1	LYN	8	56910991	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	15788152	56910991	89453031	87	28111										
RRS1	23212	genome.wustl.edu	37	chr8	67342188	67342188	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cagttggagctgcttcgtgtCatgaacagcaagaagcctca	11	10	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:67342188C>T	ENST00000320270.2	+	1	926	c.822C>T	c.(820-822)gtC>gtT	p.V274V	ADHFE1_ENST00000396623.3_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	274					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGCTTCGTGTCATGAACAGCA	0.557																																																	0													27	31	30					8																	67342188		2203	4300	6503	SO:0001819	synonymous_variant	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.822C>T	8.37:g.67342188C>T			Q9BUX8	Silent	SNP	pfam_Ribosom_reg	p.V274	ENST00000320270.2	37	c.822	CCDS6189.1	8																																																																																			RRS1	-	NULL		0.557	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	C	NM_015169		67342188	1	no_errors	ENST00000320270	ensembl	human	known	70_37	silent	SNP	0.995	T	T	67342188	C	T	67342188	2	4	158	1	0	0	0	0	0	0	0	1	13722	813	29	1		1	RRS1	8	67342188	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	10431197	67342188	79021834	88	28112										
CSPP1	79848	genome.wustl.edu	37	chr8	68026058	68026058	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agagaaaaagatttagaactCagggttgcagcgtctggagc	13	6	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr8:68026058C>T	ENST00000262210.5	+	10	1264	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	CSPP1_ENST00000412460.1_Silent_p.L117L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	446					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATTTAGAACTCAGGGTTGCAG	0.318																																																	0													94	95	95					8																	68026058		1800	4059	5859	SO:0001819	synonymous_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1233C>T	8.37:g.68026058C>T			A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.L411	ENST00000262210.5	37	c.1233	CCDS43744.1	8																																																																																			CSPP1	-	NULL		0.318	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	C	NM_024790		68026058	1	no_errors	ENST00000262210	ensembl	human	known	70_37	silent	SNP	0.977	T	T	68026058	C	T	68026058	2	4	158	1	0	0	0	0	0	0	0	1	3967	813	29	1		1	CSPP1	8	68026058	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	683870	68026058	78337964	89	28113										
KIAA2026	158358	genome.wustl.edu	37	chr9	6007613	6007613	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatcaccatcgcctccatctCttcctcctgatcgtccgcgt	6	18	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:6007613C>G	ENST00000399933.3	-	1	174	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E59Q|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	59								p.E59Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCCTCCATCTCTTCCTCCTGA	0.662																																																	1	Substitution - Missense(1)	lung(1)											34	41	39					9																	6007613		2075	4203	6278	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.175G>C	9.37:g.6007613C>G	ENSP00000382815:p.Glu59Gln		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.E59Q	ENST00000399933.3	37	c.175		9	.	.	.	.	.	.	.	.	.	.	C	6.037	0.375123	0.11409	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	3.71	2.8	0.32819	.	.	.	.	.	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	P	0.40476	0.718	B	0.34931	0.192	T	0.07635	-1.0762	8	0.33141	T	0.24	.	11.1019	0.48179	0.1856:0.8144:0.0:0.0	.	59	Q5HYC2	K2026_HUMAN	Q	59	.	ENSP00000370870:E59Q	E	-	1	0	KIAA2026	5997613	0.002000	0.14202	0.008000	0.14137	0.064000	0.16182	1.417000	0.34770	0.893000	0.36288	0.491000	0.48974	GAG	KIAA2026	-	NULL		0.662	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		6007613	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	0.004	G	G	6007613	C	G	6007613	3	3	158	1	0	0	0	0	1	0	0	0	8290	922	32	1	6168	1	KIAA2026	9	6007613	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		6007613	135205818	90	28114										
C9orf82	79886	genome.wustl.edu	37	chr9	26842620	26842620	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	taagcatctgcatttatactGagtacatcactatcttcccc	4	12	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:26842620G>C	ENST00000333916.5	-	6	853	c.765C>G	c.(763-765)ctC>ctG	p.L255L	CAAP1_ENST00000520187.1_Nonsense_Mutation_p.S110*|CAAP1_ENST00000535437.1_Silent_p.L110L	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	255					apoptotic process (GO:0006915)												CATTTATACTGAGTACATCAC	0.413																																																	0													160	161	161					9																	26842620		2203	4300	6503	SO:0001819	synonymous_variant	79886			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.765C>G	9.37:g.26842620G>C			B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Nonsense_Mutation	SNP	NULL	p.S110*	ENST00000333916.5	37	c.329	CCDS6516.1	9	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415364	0.62511	.	.	ENSG00000120159	ENST00000520187	.	.	.	5.74	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.4594	15.8574	0.78989	0.0:0.0:0.8561:0.1439	.	.	.	.	X	110	.	ENSP00000427938:S110X	S	-	2	0	C9orf82	26832620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	1.389000	0.46526	0.561000	0.74099	TCA	CAAP1	-	NULL		0.413	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAAP1	HGNC	protein_coding	OTTHUMT00000051954.1	G	NM_024828		26842620	-1	no_errors	ENST00000520187	ensembl	human	putative	70_37	nonsense	SNP	1.000	C	C	26842620	G	C	26842620	2	2	158	1	0	0	0	0	0	0	0	1	2504	1277	45	1		1	C9orf82	9	26842620	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	20835007	26842620	114370811	91	28115										
DDX58	23586	genome.wustl.edu	37	chr9	32485206	32485206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gattctctttgccagactctCtgtgtccctcatcagctgag	8	13	4	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:32485206C>T	ENST00000379883.2	-	10	1604	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	DDX58_ENST00000545044.1_Missense_Mutation_p.E280K|DDX58_ENST00000379882.1_Missense_Mutation_p.E438K|DDX58_ENST00000542096.1_Missense_Mutation_p.E412K|DDX58_ENST00000379868.1_Missense_Mutation_p.E280K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	483	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GCCAGACTCTCTGTGTCCCTC	0.383																																																	0													136	134	134					9																	32485206		2203	4300	6503	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1447G>A	9.37:g.32485206C>T	ENSP00000369213:p.Glu483Lys		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E483K	ENST00000379883.2	37	c.1447	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705230	0.48412	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	4.95	4.04	0.47022	.	0.242632	0.32273	N	0.006323	D	0.88782	0.6530	M	0.80183	2.485	0.46927	D	0.999257	D;D;D;D	0.89917	1.0;0.969;0.999;1.0	D;D;D;D	0.91635	0.999;0.916;0.968;0.991	D	0.87972	0.2737	10	0.35671	T	0.21	-15.1554	13.3514	0.60603	0.0:0.8403:0.1597:0.0	.	280;438;412;483	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	K	438;483;280;412;280	ENSP00000369212:E438K;ENSP00000369213:E483K;ENSP00000369197:E280K;ENSP00000442160:E412K;ENSP00000443055:E280K	ENSP00000369197:E280K	E	-	1	0	DDX58	32475206	0.994000	0.37717	0.478000	0.27316	0.038000	0.13279	2.578000	0.46051	1.206000	0.43276	0.655000	0.94253	GAG	DDX58	-	NULL		0.383	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	C	NM_014314		32485206	-1	no_errors	ENST00000379883	ensembl	human	known	70_37	missense	SNP	0.990	T	T	32485206	C	T	32485206	3	4	158	1	0	0	0	0	1	0	0	0	4380	922	32	1	1366	1	DDX58	9	32485206	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	5642586	32485206	108728225	92	28116										
TRPM6	140803	genome.wustl.edu	37	chr9	77417025	77417025	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtaaagaaagccagtagactCagggtcatctgatacatttt	9	7	3	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:77417025C>T	ENST00000360774.1	-	16	2035	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Missense_Mutation_p.E595K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E595K|TRPM6_ENST00000451710.3_Missense_Mutation_p.E600K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E600K|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	600					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAGTAGACTCAGGGTCATCT	0.398																																																	0													112	92	99					9																	77417025		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1798G>A	9.37:g.77417025C>T	ENSP00000354006:p.Glu600Lys		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E600K	ENST00000360774.1	37	c.1798	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919199	0.52546	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.28	4.38	0.52667	.	0.609179	0.17660	N	0.166342	T	0.68339	0.2990	M	0.78223	2.4	0.46981	D	0.999273	B;B	0.31174	0.311;0.123	B;B	0.38378	0.272;0.209	T	0.70828	-0.4766	10	0.87932	D	0	.	13.6154	0.62105	0.0:0.9254:0.0:0.0746	.	600;595	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	K	600;600;595;595;600;263;263	ENSP00000354006:E600K;ENSP00000407341:E600K;ENSP00000396672:E595K;ENSP00000354962:E595K;ENSP00000366060:E600K	ENSP00000309693:E263K	E	-	1	0	TRPM6	76606845	1.000000	0.71417	0.105000	0.21289	0.118000	0.20060	4.652000	0.61454	1.222000	0.43521	0.585000	0.79938	GAG	TRPM6	-	NULL		0.398	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	C	NM_017662		77417025	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	missense	SNP	0.970	T	T	77417025	C	T	77417025	3	4	158	1	0	0	0	0	1	0	0	0	16621	835	29	1	4366	1	TRPM6	9	77417025	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	44931819	77417025	63796406	93	28117										
VPS13A	23230	genome.wustl.edu	37	chr9	79853265	79853265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cagctcactgcagcaactttGacaaaactggaagaatttcg	8	10	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:79853265G>C	ENST00000360280.3	+	19	2123	c.1863G>C	c.(1861-1863)ttG>ttC	p.L621F	VPS13A_ENST00000357409.5_Missense_Mutation_p.L621F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L621F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L621F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	621					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCAACTTTGACAAAACTGG	0.338																																																	0													67	68	67					9																	79853265		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1863G>C	9.37:g.79853265G>C	ENSP00000353422:p.Leu621Phe		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L621F	ENST00000360280.3	37	c.1863	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011616	0.54468	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.44	4.55	0.56014	.	0.079486	0.51477	D	0.000094	T	0.66538	0.2799	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.76494	0.981;0.996;0.999;0.999	P;D;D;D	0.72982	0.841;0.935;0.979;0.979	T	0.68762	-0.5323	10	0.52906	T	0.07	.	11.2875	0.49230	0.1469:0.0:0.8531:0.0	.	621;621;621;621	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	621	ENSP00000365821:L621F;ENSP00000365823:L621F;ENSP00000353422:L621F;ENSP00000349985:L621F	ENSP00000349985:L621F	L	+	3	2	VPS13A	79043085	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.095000	0.30964	1.313000	0.45069	-0.237000	0.12165	TTG	VPS13A	-	NULL		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79853265	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79853265	G	C	79853265	3	2	158	1	0	0	0	0	1	0	0	0	17220	1281	45	1	1937	1	VPS13A	9	79853265	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2436240	79853265	61360166	94	28118										
NUP188	23511	genome.wustl.edu	37	chr9	131764003	131764003	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcctcaccctggctcgcactCagcaggtaggaggccagccc	11	17	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:131764003C>T	ENST00000372577.2	+	35	4060	c.4039C>T	c.(4039-4041)Cag>Tag	p.Q1347*	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1347					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGCTCGCACTCAGCAGGTAGG	0.592																																																	0													34	29	31					9																	131764003		2203	4300	6503	SO:0001587	stop_gained	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4039C>T	9.37:g.131764003C>T	ENSP00000361658:p.Gln1347*		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.Q1347*	ENST00000372577.2	37	c.4039	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.698689	0.99241	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.39	5.39	0.77823	.	0.109383	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5916	18.1417	0.89642	0.0:1.0:0.0:0.0	.	.	.	.	X	1236;1347	.	ENSP00000349125:Q1236X	Q	+	1	0	NUP188	130803824	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.479000	0.81095	2.537000	0.85549	0.462000	0.41574	CAG	NUP188	-	NULL		0.592	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131764003	1	no_errors	ENST00000372577	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131764003	C	T	131764003	4	4	158	1	0	0	0	0	0	1	0	0	10782	827	29	1	4177	1	NUP188	9	131764003	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	51910738	131764003	9449428	95	28119										
FCN1	2219	genome.wustl.edu	37	chr9	137801746	137801746	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tagctctcatggggtcccatGaggtagagaccattgaggtt	13	8	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:137801746G>A	ENST00000371806.3	-	9	970	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	293	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.L291fs*3(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GGGGTCCCATGAGGTAGAGAC	0.512																																																	1	Deletion - Frameshift(1)	prostate(1)											143	133	136					9																	137801746		2203	4300	6503	SO:0001819	synonymous_variant	2219			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.879C>T	9.37:g.137801746G>A			Q5VYV5|Q92596	Silent	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L293	ENST00000371806.3	37	c.879	CCDS6985.1	9																																																																																			FCN1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.512	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN1	HGNC	protein_coding	OTTHUMT00000054963.1	G	NM_002003		137801746	-1	no_errors	ENST00000371806	ensembl	human	known	70_37	silent	SNP	0.200	A	A	137801746	G	A	137801746	2	1	158	1	0	0	0	0	0	0	0	1	5809	1277	45	1		1	FCN1	9	137801746	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	6037743	137801746	3411685	96	28120										
GRIN1	2902	genome.wustl.edu	37	chr9	140051346	140051346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgcagctcatcaacggcaaGaacgagtcggcccacatcag	10	14	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr9:140051346G>A	ENST00000371561.3	+	6	1922	c.825G>A	c.(823-825)aaG>aaA	p.K275K	GRIN1_ENST00000315048.3_Silent_p.K275K|GRIN1_ENST00000371553.3_Silent_p.K296K|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Silent_p.K296K|GRIN1_ENST00000371555.4_Silent_p.K296K|GRIN1_ENST00000371559.4_Silent_p.K275K|GRIN1_ENST00000371560.3_Silent_p.K296K|GRIN1_ENST00000371550.4_Silent_p.K275K|GRIN1_ENST00000350902.5_Silent_p.K275K	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	275					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCAACGGCAAGAACGAGTCGG	0.697																																					NSCLC(113;717 1653 2089 20474 37618)												0													30	31	31					9																	140051346		2196	4296	6492	SO:0001819	synonymous_variant	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.825G>A	9.37:g.140051346G>A			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K275	ENST00000371561.3	37	c.825	CCDS7031.1	9																																																																																			GRIN1	-	pfam_ANF_lig-bd_rcpt		0.697	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	G	NM_007327		140051346	1	no_errors	ENST00000371561	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140051346	G	A	140051346	2	1	158	1	0	0	0	0	0	0	0	1	6798	933	33	1		1	GRIN1	9	140051346	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2249600	140051346	1162085	97	28121										
DHTKD1	55526	genome.wustl.edu	37	chr10	12159690	12159690	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggcagccgtgtcaactcttCaagaaatggcaccaggaaca	10	11	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr10:12159690C>T	ENST00000263035.4	+	14	2400	c.2338C>T	c.(2338-2340)Caa>Taa	p.Q780*	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	780					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTCAACTCTTCAAGAAATGGC	0.458																																																	0													190	164	173					10																	12159690		2203	4300	6503	SO:0001587	stop_gained	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2338C>T	10.37:g.12159690C>T	ENSP00000263035:p.Gln780*		Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.Q780*	ENST00000263035.4	37	c.2338	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.834853	0.97873	.	.	ENSG00000181192	ENST00000263035	.	.	.	5.42	2.38	0.29361	.	0.556803	0.19381	N	0.115652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.1831	18.7083	0.91646	0.0:0.3809:0.6191:0.0	.	.	.	.	X	780	.	ENSP00000263035:Q780X	Q	+	1	0	DHTKD1	12199696	0.998000	0.40836	0.990000	0.47175	0.743000	0.42351	0.514000	0.22786	0.192000	0.20272	0.655000	0.94253	CAA	DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.458	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12159690	1	no_errors	ENST00000263035	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	12159690	C	T	12159690	4	4	158	1	0	0	0	0	0	1	0	0	4510	827	29	1	2392	1	DHTKD1	10	12159690	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		12159690	123375057	98	28122										
FRMD4A	55691	genome.wustl.edu	37	chr10	13782229	13782229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtgaaccccgtaggttgggaGagactccacgatgctcatgt	13	10	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr10:13782229G>C	ENST00000357447.2	-	11	1005	c.637C>G	c.(637-639)Ctc>Gtc	p.L213V	RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000358621.4_Missense_Mutation_p.L198V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.L213V|FRMD4A_ENST00000342409.2_Missense_Mutation_p.L229V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	213	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TAGGTTGGGAGAGACTCCACG	0.438																																																	0													118	112	114					10																	13782229		2203	4300	6503	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.637C>G	10.37:g.13782229G>C	ENSP00000350032:p.Leu213Val		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.L213V	ENST00000357447.2	37	c.637	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356041	0.82243	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.9	5.9	0.94986	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.72894	2.215	0.80722	D	1	P;P;P	0.49696	0.872;0.877;0.927	P;P;P	0.58620	0.679;0.53;0.842	T	0.70605	-0.4826	10	0.59425	D	0.04	-24.3108	20.2789	0.98501	0.0:0.0:1.0:0.0	.	229;246;213	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	V	198;213;213;246;229	ENSP00000351438:L198V;ENSP00000350032:L213V;ENSP00000367764:L213V;ENSP00000264546:L246V;ENSP00000344237:L229V	ENSP00000264546:L246V	L	-	1	0	FRMD4A	13822235	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.489000	0.73641	2.788000	0.95919	0.650000	0.86243	CTC	FRMD4A	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.438	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	G	NM_018027		13782229	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13782229	G	C	13782229	3	2	158	1	0	0	0	0	1	0	0	0	6069	942	33	1	2538	1	FRMD4A	10	13782229	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	1622539	13782229	121752518	99	28123										
NMT2	9397	genome.wustl.edu	37	chr10	15151821	15151821	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tccatcaaatccagtgcattGaatacatcaaatcctttctg	4	11	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr10:15151821G>C	ENST00000378165.4	-	11	1436	c.1356C>G	c.(1354-1356)ttC>ttG	p.F452L	NMT2_ENST00000378150.1_Missense_Mutation_p.F439L|NMT2_ENST00000540259.1_Missense_Mutation_p.F264L|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.F439L	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	452					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CCAGTGCATTGAATACATCAA	0.308																																					Melanoma(117;1345 1645 4130 12688 30625)												0													97	99	98					10																	15151821		2202	4300	6502	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1356C>G	10.37:g.15151821G>C	ENSP00000367407:p.Phe452Leu		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.F483L	ENST00000378165.4	37	c.1449	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082198	0.76528	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.53640	0.61	5.51	5.51	0.81932	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77115	-0.2707	10	0.87932	D	0	-25.1591	13.0545	0.58971	0.0737:0.0:0.9263:0.0	.	439;452	Q5VUC6;O60551	.;NMT2_HUMAN	L	16;452;439;483;264;439	ENSP00000367407:F452L	ENSP00000367385:F483L	F	-	3	2	NMT2	15191827	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.510000	0.67018	2.756000	0.94617	0.655000	0.94253	TTC	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.308	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	G	NM_004808		15151821	-1	no_errors	ENST00000378143	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15151821	G	C	15151821	3	2	158	1	0	0	0	0	1	0	0	0	10528	1281	45	1	148	1	NMT2	10	15151821	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	1369592	15151821	120382926	100	28124										
NMT2	9397	genome.wustl.edu	37	chr10	15161425	15161425	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	atccatcactggagccagatGaaactgcttcaggtaagtgt	10	9	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr10:15161425G>T	ENST00000378165.4	-	9	1167	c.1087C>A	c.(1087-1089)Cat>Aat	p.H363N	NMT2_ENST00000378150.1_Missense_Mutation_p.H350N|NMT2_ENST00000540259.1_Missense_Mutation_p.H175N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.H350N	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	363					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGAGCCAGATGAAACTGCTTC	0.448																																					Melanoma(117;1345 1645 4130 12688 30625)												0													211	193	199					10																	15161425		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1087C>A	10.37:g.15161425G>T	ENSP00000367407:p.His363Asn		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.H394N	ENST00000378165.4	37	c.1180	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581232	0.28180	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.40225	1.04	5.55	4.65	0.58169	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.154928	0.64402	D	0.000018	T	0.20618	0.0496	N	0.11201	0.11	0.39483	D	0.967911	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.14023	0.003;0.002;0.01	T	0.09228	-1.0684	9	.	.	.	-23.4527	6.7354	0.23407	0.1502:0.0:0.697:0.1528	.	363;350;363	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	N	363;350;394;175;350	ENSP00000367407:H363N	.	H	-	1	0	NMT2	15201431	1.000000	0.71417	0.936000	0.37596	0.938000	0.57974	5.180000	0.65048	1.334000	0.45468	0.655000	0.94253	CAT	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.448	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	G	NM_004808		15161425	-1	no_errors	ENST00000378143	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15161425	G	T	15161425	3	4	158	1	0	0	0	0	1	0	0	0	10528	1290	45	3	425	3	NMT2	10	15161425	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	9604	15161425	120373322	101	28125										
KCNMA1	3778	genome.wustl.edu	37	chr10	78850175	78850175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tacttgtgaagaaaaacgatCtccacattgacgtcatcccg	7	11	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr10:78850175C>G	ENST00000286628.8	-	10	1316	c.1317G>C	c.(1315-1317)gaG>gaC	p.E439D	KCNMA1_ENST00000404857.1_Missense_Mutation_p.E439D|KCNMA1_ENST00000286627.5_Missense_Mutation_p.E439D|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E439D|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E439D|KCNMA1_ENST00000404771.3_Missense_Mutation_p.E439D|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E439D|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E439D	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	439	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GAAAAACGATCTCCACATTGA	0.517																																																	0													225	190	202					10																	78850175		2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1317G>C	10.37:g.78850175C>G	ENSP00000286628:p.Glu439Asp		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.E439D	ENST00000286628.8	37	c.1317		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.12|17.12|17.12	3.307767|3.307767|3.307767	0.60305|0.60305|0.60305	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	.|T;T;T;T;T;T;T;T;T|.	.|0.68903|.	.|-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.67344|0.67344|0.67344	0.2883|0.2883|0.2883	M|M|M	0.72479|0.72479|0.72479	2.2|2.2|2.2	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;P;D;P;D;D;P|.	.|0.76494|.	.|0.987;0.661;0.92;0.999;0.727;0.997;0.997;0.538|.	.|D;P;P;D;P;D;D;B|.	.|0.85130|.	.|0.977;0.644;0.767;0.997;0.508;0.933;0.954;0.309|.	T|T|T	0.67185|0.67185|0.67185	-0.5734|-0.5734|-0.5734	5|10|5	.|0.87932|.	.|D|.	.|0|.	-15.5206|-15.5206|-15.5206	10.7989|10.7989|10.7989	0.46476|0.46476|0.46476	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.|.	.|439;439;439;439;439;221;439;439|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.;.;.|.	H|D|T	428;118|439;376;374;413;376;439;439;413;439;439;439;221|390	.|ENSP00000361517:E439D;ENSP00000361485:E376D;ENSP00000361514:E374D;ENSP00000396608:E413D;ENSP00000361520:E439D;ENSP00000286627:E439D;ENSP00000385552:E439D;ENSP00000346321:E439D;ENSP00000385806:E439D|.	.|ENSP00000286627:E439D|.	D|E|R	-|-|-	1|3|2	0|2|0	KCNMA1|KCNMA1|KCNMA1	78520181|78520181|78520181	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.378000|3.378000|3.378000	0.52432|0.52432|0.52432	2.677000|2.677000|2.677000	0.91161|0.91161|0.91161	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GAG|AGA	KCNMA1	-	prints_K_chnl_Ca-activ_BK_asu		0.517	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	C	NM_002247		78850175	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78850175	C	G	78850175	3	3	158	1	0	0	0	0	1	0	0	0	8093	912	32	1	2641	1	KCNMA1	10	78850175	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	63688750	78850175	56684572	102	28126										
OPALIN	93377	genome.wustl.edu	37	chr10	98105853	98105853	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcccatcgtattcttctcatGtgtgggtgatctcctaggat	9	10	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr10:98105853G>C	ENST00000371172.3	-	6	676	c.271C>G	c.(271-273)Cat>Gat	p.H91D	OPALIN_ENST00000419479.1_Missense_Mutation_p.H81D|OPALIN_ENST00000393870.2_Missense_Mutation_p.H80D|OPALIN_ENST00000393871.1_Missense_Mutation_p.H68D|OPALIN_ENST00000536387.1_Missense_Mutation_p.H81D	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	91						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TTCTTCTCATGTGTGGGTGAT	0.423																																																	0													156	143	147					10																	98105853		2203	4300	6503	SO:0001583	missense	93377			AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"transmembrane protein 10"	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.271C>G	10.37:g.98105853G>C	ENSP00000360214:p.His91Asp		A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	NULL	p.H91D	ENST00000371172.3	37	c.271	CCDS7448.1	10	.	.	.	.	.	.	.	.	.	.	G	4.553	0.102600	0.08731	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	2.05	0.26809	.	1.026550	0.07747	N	0.947918	T	0.32285	0.0824	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30281	0.275;0.275;0.001	B;B;B	0.27076	0.076;0.055;0.002	T	0.32955	-0.9887	9	0.87932	D	0	-0.6172	9.8563	0.41088	0.0:0.4106:0.5894:0.0	.	68;91;81	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	D	91;68;81;80;81	.	ENSP00000360214:H91D	H	-	1	0	OPALIN	98095843	0.168000	0.22989	0.021000	0.16686	0.079000	0.17450	1.049000	0.30392	1.057000	0.40506	0.650000	0.86243	CAT	OPALIN	-	NULL		0.423	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPALIN	HGNC	protein_coding	OTTHUMT00000049606.1	G	NM_033207		98105853	-1	no_errors	ENST00000371172	ensembl	human	known	70_37	missense	SNP	0.001	C	C	98105853	G	C	98105853	3	2	158	1	0	0	0	0	1	0	0	0	10897	1377	48	4	158	4	OPALIN	10	98105853	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	19255678	98105853	37428894	103	28127										
PACSIN3	29763	genome.wustl.edu	37	chr11	47200581	47200581	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgtgtgtccaaggaccactCctgtggggacagtgcttata	12	10	0	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:47200581C>T	ENST00000539589.1	-	9	1243	c.901G>A	c.(901-903)Gag>Aag	p.E301K	PACSIN3_ENST00000298838.6_Splice_Site_p.E301K|ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000319543.6_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	301	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AAGGACCACTCCTGTGGGGAC	0.577																																																	0													153	152	152					11																	47200581		2201	4298	6499	SO:0001630	splice_region_variant	29763			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.901-1G>A	11.37:g.47200581C>T			A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.E301K	ENST00000539589.1	37	c.901	CCDS31481.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.427290|5.427290	0.96131|0.96131	.|.	.|.	ENSG00000165912|ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462|ENST00000533686	T;T;T|.	0.15952|.	2.38;2.38;2.38|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.720175|.	0.13143|.	N|.	0.410509|.	D|D	0.83422|0.83422	0.5251|0.5251	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	D|.	0.64776|.	0.929|.	D|D	0.84423|0.84423	0.0572|0.0572	10|5	0.59425|.	D|.	0.04|.	7.3216|7.3216	19.7642|19.7642	0.96334|0.96334	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	301|.	Q9UKS6|.	PACN3_HUMAN|.	K|E	301|23	ENSP00000298838:E301K;ENSP00000440945:E301K;ENSP00000437252:E301K|.	ENSP00000298838:E301K|.	E|G	-|-	1|2	0|0	PACSIN3|PACSIN3	47157157|47157157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.262000|7.262000	0.78410|0.78410	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	GAG|GGA	PACSIN3	-	NULL		0.577	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN3	HGNC	protein_coding	OTTHUMT00000391632.1	C	NM_016223	Missense_Mutation	47200581	-1	no_errors	ENST00000298838	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47200581	C	T	47200581	5	4	158	1	0	0	0	0	0	0	1	0	11400	869	30	1	385	1	PACSIN3	11	47200581	Splice_Site	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		47200581	87805935	104	28128										
OR8K1	390157	genome.wustl.edu	37	chr11	56114370	56114370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tggcctcagtgttttataccCtgttgattcctatgctgaat	8	9	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:56114370C>A	ENST00000279783.2	+	1	950	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTTTTATACCCTGTTGATTCC	0.368										HNSCC(65;0.19)																																							0													102	97	99					11																	56114370		2201	4296	6497	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.856C>A	11.37:g.56114370C>A	ENSP00000279783:p.Leu286Met		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L286M	ENST00000279783.2	37	c.856	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652603	0.29336	.	.	ENSG00000150261	ENST00000279783	T	0.00188	8.59	5.0	-5.25	0.02781	GPCR, rhodopsin-like superfamily (1);	0.201519	0.24269	N	0.040002	T	0.00109	0.0003	L	0.35542	1.07	0.09310	N	1	P	0.51933	0.949	P	0.49597	0.616	T	0.52094	-0.8621	10	0.13470	T	0.59	-8.2569	0.701	0.00908	0.2412:0.1794:0.1754:0.404	.	286	Q8NGG5	OR8K1_HUMAN	M	286	ENSP00000279783:L286M	ENSP00000279783:L286M	L	+	1	2	OR8K1	55870946	0.000000	0.05858	0.010000	0.14722	0.486000	0.33341	-2.940000	0.00683	-0.693000	0.05121	-0.311000	0.09066	CTG	OR8K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.368	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	C	NM_001002907		56114370	1	no_errors	ENST00000279783	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56114370	C	A	56114370	3	1	158	1	0	0	0	0	1	0	0	0	11267	680	24	4	858	4	OR8K1	11	56114370	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	8913789	56114370	78892146	105	28129										
RTN4RL2	349667	genome.wustl.edu	37	chr11	57244279	57244279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cgaggggagcagatgtgcccCggcgctgcctgccaggcgcc	17	15	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:57244279C>T	ENST00000335099.3	+	3	1475	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGATGTGCCCCGGCGCTGCCT	0.751																																																	0													8	11	10					11																	57244279		2054	4084	6138	SO:0001819	synonymous_variant	349667			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.1158C>T	11.37:g.57244279C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P386	ENST00000335099.3	37	c.1158	CCDS7957.1	11																																																																																			RTN4RL2	-	NULL		0.751	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL2	HGNC	protein_coding	OTTHUMT00000392537.1	C	NM_178570		57244279	1	no_errors	ENST00000335099	ensembl	human	known	70_37	silent	SNP	0.883	T	T	57244279	C	T	57244279	2	4	158	1	0	0	0	0	0	0	0	1	13762	639	23	2		2	RTN4RL2	11	57244279	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1129909	57244279	77762237	106	28130										
C11orf66	220004	genome.wustl.edu	37	chr11	61257393	61257393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ccaaccccatggagagcctgCggcacctgcatccccacgtg	10	18	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:61257393C>T	ENST00000338608.2	+	12	1308	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	PPP1R32_ENST00000432063.2_Missense_Mutation_p.R375W|PPP1R32_ENST00000366212.4_Missense_Mutation_p.R25W|PPP1R32_ENST00000538185.1_Missense_Mutation_p.R72W	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	395							phosphatase binding (GO:0019902)										GGAGAGCCTGCGGCACCTGCA	0.662																																																	0													56	46	49					11																	61257393		2202	4298	6500	SO:0001583	missense	220004			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.1183C>T	11.37:g.61257393C>T	ENSP00000344140:p.Arg395Trp		Q4G0P4|Q96M77	Missense_Mutation	SNP	NULL	p.R395W	ENST00000338608.2	37	c.1183	CCDS8008.1	11	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078925	0.55753	.	.	ENSG00000162148	ENST00000432063;ENST00000338608;ENST00000542951;ENST00000366212;ENST00000538185	T;T;T;T;T	0.75477	0.4;1.0;0.8;-0.94;0.25	4.73	-1.52	0.08637	.	0.291362	0.23589	N	0.046569	T	0.81645	0.4866	M	0.72894	2.215	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.63703	0.855;0.917	T	0.77362	-0.2616	10	0.87932	D	0	-10.1003	14.167	0.65483	0.7803:0.2197:0.0:0.0	.	375;395	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	W	375;395;146;25;72	ENSP00000391560:R375W;ENSP00000344140:R395W;ENSP00000441053:R146W;ENSP00000439468:R25W;ENSP00000444387:R72W	ENSP00000344140:R395W	R	+	1	2	C11orf66	61013969	0.006000	0.16342	0.149000	0.22428	0.682000	0.39822	-0.127000	0.10547	-0.248000	0.09583	0.555000	0.69702	CGG	PPP1R32	-	NULL		0.662	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R32	HGNC	protein_coding	OTTHUMT00000398621.1	C	NM_145017		61257393	1	no_errors	ENST00000338608	ensembl	human	known	70_37	missense	SNP	0.003	T	T	61257393	C	T	61257393	3	4	158	1	0	0	0	0	1	0	0	0	1660	759	27	2	1225	2	C11orf66	11	61257393	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	4013114	61257393	73749123	107	28131										
NUDT22	84304	genome.wustl.edu	37	chr11	63995093	63995093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gacctcgctgggcagctggtGgtacatgaactcttttccag	12	11	1	1	rs139747440		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:63995093G>A	ENST00000279206.3	+	3	690	c.534G>A	c.(532-534)gtG>gtA	p.V178V	TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000394546.2_5'Flank|NUDT22_ENST00000441250.2_Intron|TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000546133.1_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321685.3_5'Flank|TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000541278.1_5'Flank|DNAJC4_ENST00000355040.4_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	178	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GGCAGCTGGTGGTACATGAAC	0.612																																																	0													102	92	95					11																	63995093		2201	4297	6498	SO:0001819	synonymous_variant	84304			BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"Nudix motif containing"	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.534G>A	11.37:g.63995093G>A			C9JY06|Q71RD5	Silent	SNP	superfamily_NUDIX_hydrolase_dom-like	p.V178	ENST00000279206.3	37	c.534	CCDS8061.1	11																																																																																			NUDT22	-	NULL		0.612	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NUDT22	HGNC	protein_coding	OTTHUMT00000396304.2	G	NM_032344		63995093	1	no_errors	ENST00000279206	ensembl	human	known	70_37	silent	SNP	0.851	A	A	63995093	G	A	63995093	2	1	158	1	0	0	0	0	0	0	0	1	10763	1335	47	4		4	NUDT22	11	63995093	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2737700	63995093	71011423	108	28132										
CPT1A	1374	genome.wustl.edu	37	chr11	68579947	68579947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tttttgcaattattcctaacGaggggtcgatcttggcgtac	10	8	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:68579947G>A	ENST00000265641.5	-	3	393	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CPT1A_ENST00000376618.2_Missense_Mutation_p.S80L|CPT1A_ENST00000540367.1_Missense_Mutation_p.S80L|CPT1A_ENST00000539743.1_Missense_Mutation_p.S80L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	80					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TATTCCTAACGAGGGGTCGAT	0.483																																																	0													175	153	161					11																	68579947		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.239C>T	11.37:g.68579947G>A	ENSP00000265641:p.Ser80Leu		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.S80L	ENST00000265641.5	37	c.239	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354589	0.82243	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.90650	3.135	0.80722	D	1	P;D;D	0.89917	0.876;1.0;1.0	B;D;D	0.91635	0.425;0.999;0.993	D	0.92816	0.6268	10	0.62326	D	0.03	.	18.815	0.92073	0.0:0.0:1.0:0.0	.	80;80;80	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	L	80	ENSP00000439084:S80L;ENSP00000365803:S80L;ENSP00000265641:S80L;ENSP00000446108:S80L	ENSP00000265641:S80L	S	-	2	0	CPT1A	68336523	1.000000	0.71417	0.959000	0.39883	0.292000	0.27327	9.181000	0.94874	2.669000	0.90835	0.561000	0.74099	TCG	CPT1A	-	NULL		0.483	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	G	NM_001876		68579947	-1	no_errors	ENST00000265641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68579947	G	A	68579947	3	1	158	1	0	0	0	0	1	0	0	0	3836	1059	37	1	2190	1	CPT1A	11	68579947	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	4584854	68579947	66426569	109	28133										
IGHMBP2	3508	genome.wustl.edu	37	chr11	68702826	68702826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gagcttgaaatcaagtctgtCgatggcttccaaggccgaga	12	9	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:68702826C>T	ENST00000255078.3	+	12	1803	c.1692C>T	c.(1690-1692)gtC>gtT	p.V564V	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	564					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.V564V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAAGTCTGTCGATGGCTTCC	0.577																																																	1	Substitution - coding silent(1)	lung(1)											96	77	84					11																	68702826		2200	4294	6494	SO:0001819	synonymous_variant	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1692C>T	11.37:g.68702826C>T			A0PJD2|Q00443|Q14177	Silent	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.V564	ENST00000255078.3	37	c.1692	CCDS8187.1	11																																																																																			IGHMBP2	-	tigrfam_DNA_helicase_put		0.577	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	C	NM_002180		68702826	1	no_errors	ENST00000255078	ensembl	human	known	70_37	silent	SNP	0.098	T	T	68702826	C	T	68702826	2	4	158	1	0	0	0	0	0	0	0	1	7611	871	31	1		1	IGHMBP2	11	68702826	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	122879	68702826	66303690	110	28134										
CCDC83	220047	genome.wustl.edu	37	chr11	85627082	85627082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttatccaagaagagaagtcaGaattgcaacccacagaagta	8	8	1	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr11:85627082G>A	ENST00000342404.3	+	10	1102	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.E196K|CCDC83_ENST00000280245.4_Missense_Mutation_p.E327K			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	296										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAGAAGTCAGAATTGCAACC	0.313																																																	0													96	98	97					11																	85627082		2203	4299	6502	SO:0001583	missense	220047			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.886G>A	11.37:g.85627082G>A	ENSP00000344512:p.Glu296Lys		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	NULL	p.E327K	ENST00000342404.3	37	c.979		11	.	.	.	.	.	.	.	.	.	.	G	1.903	-0.452553	0.04540	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.42131	0.98;0.98;0.98	4.51	-4.48	0.03515	.	0.800320	0.11536	N	0.554260	T	0.17280	0.0415	N	0.11364	0.135	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.24119	-1.0169	9	.	.	.	-0.5004	6.6016	0.22703	0.2195:0.3487:0.4319:0.0	.	196;296;327	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	K	327;196;296	ENSP00000280245:E327K;ENSP00000365235:E196K;ENSP00000344512:E296K	.	E	+	1	0	CCDC83	85304730	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.038000	0.13862	-0.742000	0.04790	-0.469000	0.05056	GAA	CCDC83	-	NULL		0.313	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	G	NM_173556		85627082	1	no_errors	ENST00000280245	ensembl	human	known	70_37	missense	SNP	0.000	A	A	85627082	G	A	85627082	3	1	158	1	0	0	0	0	1	0	0	0	2862	943	33	1	1017	1	CCDC83	11	85627082	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	16924256	85627082	49379434	111	28135										
ZNF384	171017	genome.wustl.edu	37	chr12	6776880	6776880	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtgggtggcagcacggatctCtaagagctggccaggtgctc	16	10	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:6776880C>G	ENST00000396801.3	-	11	1941	c.1734G>C	c.(1732-1734)taG>taC	p.*578Y	ZNF384_ENST00000361959.3_Nonstop_Mutation_p.*578Y|ZNF384_ENST00000396795.1_Nonstop_Mutation_p.*517Y|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Nonstop_Mutation_p.*462Y|ZNF384_ENST00000396799.2_Nonstop_Mutation_p.*517Y|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Nonstop_Mutation_p.*501Y	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	0					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCACGGATCTCTAAGAGCTGG	0.542			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													147	149	149					12																	6776880		2203	4300	6503	SO:0001578	stop_lost	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1734G>C	12.37:g.6776880C>G			O15407|Q7Z722|Q8N938	Nonstop_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.*578Y	ENST00000396801.3	37	c.1734	CCDS44817.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.98|16.98	3.271351|3.271351	0.59649|0.59649	.|.	.|.	ENSG00000219410|ENSG00000126746	ENST00000407384|ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	.|.	.|.	.|.	5.83|5.83	4.89|4.89	0.63831|0.63831	.|.	.|.	.|.	.|.	.|.	T|.	0.51483|.	0.1677|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43925|.	-0.9361|.	5|.	0.87932|.	D|.	0|.	.|.	16.4123|16.4123	0.83722|0.83722	0.0:0.8686:0.1314:0.0|0.0:0.8686:0.1314:0.0	.|.	.|.	.|.	.|.	V|Y	62|501;517;578;578;462;517	.|.	ENSP00000384049:L62V|.	L|X	+|-	1|3	2|2	AC125494.1|ZNF384	6647141|6647141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.599000|1.599000	0.36751|0.36751	2.757000|2.757000	0.94681|0.94681	0.591000|0.591000	0.81541|0.81541	CTA|TAG	ZNF384	-	NULL		0.542	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	C			6776880	-1	no_errors	ENST00000361959	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	6776880	C	G	6776880	4	3	158	1	0	0	0	0	0	0	0	0	17905	924	32	1	3	1	ZNF384	12	6776880	Nonstop_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		6776880	127075015	112	28136										
AEBP2	121536	genome.wustl.edu	37	chr12	19646858	19646858	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gccaaaggccaaagaagaatCtccttctaaagctggaatga	9	9	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:19646858C>T	ENST00000398864.3	+	4	1138	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	AEBP2_ENST00000541908.1_Missense_Mutation_p.S142F|AEBP2_ENST00000360995.4_Missense_Mutation_p.S155F|AEBP2_ENST00000266508.9_Missense_Mutation_p.S371F	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	371	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AAAGAAGAATCTCCTTCTAAA	0.433																																																	0													53	51	51					12																	19646858		1859	4116	5975	SO:0001583	missense	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1112C>T	12.37:g.19646858C>T	ENSP00000381840:p.Ser371Phe		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S371F	ENST00000398864.3	37	c.1112	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766014	0.90020	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	T;T;T;T	0.71461	-0.51;-0.39;-0.57;-0.42	5.45	5.45	0.79879	.	.	.	.	.	T	0.81118	0.4756	L	0.54323	1.7	0.58432	D	0.999997	D	0.71674	0.998	D	0.78314	0.991	T	0.78727	-0.2091	8	.	.	.	-5.4626	17.6619	0.88195	0.0:1.0:0.0:0.0	.	371	Q6ZN18	AEBP2_HUMAN	F	142;371;305;371;155	ENSP00000437983:S142F;ENSP00000381840:S371F;ENSP00000266508:S371F;ENSP00000354267:S155F	.	S	+	2	0	AEBP2	19538125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.814000	0.75236	2.835000	0.97688	0.650000	0.86243	TCT	AEBP2	-	NULL		0.433	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	C	NM_153207		19646858	1	no_errors	ENST00000398864	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19646858	C	T	19646858	3	4	158	1	0	0	0	0	1	0	0	0	350	913	32	1	1126	1	AEBP2	12	19646858	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	12869978	19646858	114205037	113	28137										
SLC4A8	9498	genome.wustl.edu	37	chr12	51863470	51863470	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agcgactaccgagatgcactCagcttacagtgtttggcttc	10	11	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:51863470C>G	ENST00000453097.2	+	12	1639	c.1422C>G	c.(1420-1422)ctC>ctG	p.L474L	SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Silent_p.L421L|SLC4A8_ENST00000535225.2_Silent_p.L421L|SLC4A8_ENST00000514353.3_Silent_p.L421L|SLC4A8_ENST00000358657.3_Silent_p.L501L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGATGCACTCAGCTTACAGT	0.547																																																	0													260	214	230					12																	51863470		2203	4300	6503	SO:0001819	synonymous_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1422C>G	12.37:g.51863470C>G				Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L474	ENST00000453097.2	37	c.1422	CCDS44890.1	12																																																																																			SLC4A8	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk		0.547	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	C	NM_004858		51863470	1	no_errors	ENST00000453097	ensembl	human	known	70_37	silent	SNP	0.999	G	G	51863470	C	G	51863470	2	3	158	1	0	0	0	0	0	0	0	1	14689	813	29	1		1	SLC4A8	12	51863470	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	32216612	51863470	81988425	114	28138										
KRT1	3848	genome.wustl.edu	37	chr12	53072416	53072416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcagttggtccactctccttCggagattgttgatgaatgac	10	9	2	4	rs542753485		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:53072416C>T	ENST00000252244.3	-	2	774	c.716G>A	c.(715-717)cGa>cAa	p.R239Q		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	239	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CACTCTCCTTCGGAGATTGTT	0.473																																																	0													163	147	152					12																	53072416		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.716G>A	12.37:g.53072416C>T	ENSP00000252244:p.Arg239Gln		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R239Q	ENST00000252244.3	37	c.716	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000446	0.54147	.	.	ENSG00000167768	ENST00000252244	D	0.92595	-3.07	4.98	4.09	0.47781	Filament (1);	.	.	.	.	D	0.93458	0.7913	L	0.60455	1.87	0.31353	N	0.682278	D	0.52996	0.957	P	0.58266	0.836	D	0.91945	0.5566	9	0.56958	D	0.05	.	10.969	0.47428	0.0:0.8483:0.0:0.1517	.	239	P04264	K2C1_HUMAN	Q	239	ENSP00000252244:R239Q	ENSP00000252244:R239Q	R	-	2	0	KRT1	51358683	0.005000	0.15991	0.097000	0.21041	0.010000	0.07245	2.158000	0.42329	1.240000	0.43803	0.655000	0.94253	CGA	KRT1	-	pfam_F		0.473	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	C	NM_006121		53072416	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	0.930	T	T	53072416	C	T	53072416	3	4	158	1	0	0	0	0	1	0	0	0	8467	884	31	1	1250	1	KRT1	12	53072416	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1208946	53072416	80779479	115	28139										
SILV	6490	genome.wustl.edu	37	chr12	56352293	56352293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ataaacaaagcttctcttctGagaccaagagccagatgggc	9	10	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:56352293G>A	ENST00000548747.1	-	4	1095	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	PMEL_ENST00000550447.1_Nonsense_Mutation_p.Q108*|PMEL_ENST00000539511.1_Nonsense_Mutation_p.Q59*|PMEL_ENST00000552882.1_Nonsense_Mutation_p.Q145*|PMEL_ENST00000360714.4_Nonsense_Mutation_p.Q145*|PMEL_ENST00000550464.1_Nonsense_Mutation_p.Q59*|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000548493.1_Nonsense_Mutation_p.Q145*|PMEL_ENST00000536427.1_Nonsense_Mutation_p.Q145*|PMEL_ENST00000449260.2_Nonsense_Mutation_p.Q145*			P40967	PMEL_HUMAN	premelanosome protein	145					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						CTTCTCTTCTGAGACCAAGAG	0.527																																																	0													90	76	81					12																	56352293		2203	4300	6503	SO:0001587	stop_gained	6490			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.433C>T	12.37:g.56352293G>A	ENSP00000448828:p.Gln145*		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Nonsense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.Q145*	ENST00000548747.1	37	c.433	CCDS8897.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.412421|3.412421	0.62511|0.62511	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418|ENST00000549404	.|T	.|0.08282	.|3.11	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.145221|.	0.32518|.	N|.	0.005982|.	.|T	.|0.11324	.|0.0276	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10753	.|-1.0616	.|5	0.02654|0.27785	T|T	1|0.31	8.7463|8.7463	10.6672|10.6672	0.45736|0.45736	0.0937:0.0:0.9063:0.0|0.0937:0.0:0.9063:0.0	.|.	.|.	.|.	.|.	X|L	145;145;59;145;145;145;145;59;108;145;145;96;145|32	.|ENSP00000449520:S32L	ENSP00000353940:Q145X|ENSP00000449520:S32L	Q|S	-|-	1|2	0|0	PMEL|PMEL	54638560|54638560	0.828000|0.828000	0.29307|0.29307	0.985000|0.985000	0.45067|0.45067	0.906000|0.906000	0.53458|0.53458	3.361000|3.361000	0.52306|0.52306	2.487000|2.487000	0.83934|0.83934	0.462000|0.462000	0.41574|0.41574	CAG|TCA	PMEL	-	NULL		0.527	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	G	NM_006928		56352293	-1	no_errors	ENST00000360714	ensembl	human	known	70_37	nonsense	SNP	0.994	A	A	56352293	G	A	56352293	4	1	158	1	0	0	0	0	0	1	0	0	14352	1299	45	1	1584	1	SILV	12	56352293	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	3279877	56352293	77499602	116	28140										
GLS2	27165	genome.wustl.edu	37	chr12	56872898	56872898	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cacatggcccgtgaactcctCaaaatcaggaatgacaaact	7	12	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:56872898C>G	ENST00000311966.4	-	4	750	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	GLS2_ENST00000539272.1_Intron|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	158					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	GTGAACTCCTCAAAATCAGGA	0.527																																																	0													106	95	99					12																	56872898		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.472G>C	12.37:g.56872898C>G	ENSP00000310447:p.Glu158Gln		B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.E158Q	ENST00000311966.4	37	c.472	CCDS8921.1	12	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525240	0.27299	.	.	ENSG00000135423	ENST00000311966	T	0.42513	0.97	4.75	4.75	0.60458	Beta-lactamase/transpeptidase-like (1);	0.250540	0.44097	D	0.000497	T	0.24509	0.0594	N	0.16368	0.405	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07693	-1.0759	10	0.13470	T	0.59	-28.0468	11.3554	0.49613	0.0:0.8168:0.1832:0.0	.	158	Q9UI32	GLSL_HUMAN	Q	158	ENSP00000310447:E158Q	ENSP00000310447:E158Q	E	-	1	0	GLS2	55159165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.131000	0.42074	2.644000	0.89710	0.655000	0.94253	GAG	GLS2	-	superfamily_Beta-lactam/transpept-like		0.527	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	C	NM_013267		56872898	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56872898	C	G	56872898	3	3	158	1	0	0	0	0	1	0	0	0	6483	835	29	1	1396	1	GLS2	12	56872898	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	520605	56872898	76978997	117	28141										
DPY19L2	283417	genome.wustl.edu	37	chr12	64041078	64041078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttctggtgacattccagcagGtcttagtttctagtccaaat	8	9	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:64041078G>A	ENST00000324472.4	-	5	839	c.656C>T	c.(655-657)aCc>aTc	p.T219I	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	219					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTCCAGCAGGTCTTAGTTTC	0.333																																																	0													45	48	47					12																	64041078		2199	4286	6485	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.656C>T	12.37:g.64041078G>A	ENSP00000315988:p.Thr219Ile		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	pfam_Dpy-19	p.T219I	ENST00000324472.4	37	c.656	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	G	8.416	0.845253	0.16963	.	.	ENSG00000177990	ENST00000324472	T	0.40476	1.03	2.35	2.35	0.29111	.	0.324485	0.26635	U	0.023290	T	0.32436	0.0829	L	0.48642	1.525	0.80722	D	1	B	0.19583	0.037	B	0.24701	0.055	T	0.09378	-1.0677	9	.	.	.	.	8.2163	0.31514	0.0:0.0:1.0:0.0	.	219	Q6NUT2	D19L2_HUMAN	I	219	ENSP00000315988:T219I	.	T	-	2	0	DPY19L2	62327345	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	1.112000	0.31172	1.313000	0.45069	0.184000	0.17185	ACC	DPY19L2	-	pfam_Dpy-19		0.333	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	G	NM_173812		64041078	-1	no_errors	ENST00000324472	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64041078	G	A	64041078	3	1	158	1	0	0	0	0	1	0	0	0	4751	1261	44	4	1692	4	DPY19L2	12	64041078	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7168180	64041078	69810817	118	28142										
POC1B	282809	genome.wustl.edu	37	chr12	89860565	89860565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acttctacagtctcaactttTtcctcatggggatgtggtgt	9	9	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:89860565T>C	ENST00000313546.3	-	9	1142	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	POC1B_ENST00000549035.1_Silent_p.E296E|POC1B_ENST00000378528.2_Missense_Mutation_p.K125R|POC1B_ENST00000541909.1_Silent_p.E208E|POC1B_ENST00000393179.4_Silent_p.E208E|POC1B_ENST00000549504.1_Missense_Mutation_p.K89R	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	338					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTCAACTTTTTCCTCATGGG	0.348																																																	0													195	183	187					12																	89860565		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1014A>G	12.37:g.89860565T>C			G3V1X0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K125R	ENST00000313546.3	37	c.374	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116543	0.37339	.	.	ENSG00000139323	ENST00000378528;ENST00000549504	T	0.74002	-0.8	5.71	-8.47	0.00939	.	.	.	.	.	T	0.70378	0.3217	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.71790	-0.4486	6	0.87932	D	0	.	11.7659	0.51930	0.0:0.5595:0.2084:0.2321	.	.	.	.	R	125;89	ENSP00000367789:K125R	ENSP00000367789:K125R	K	-	2	0	POC1B	88384696	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-0.776000	0.04674	-1.774000	0.01288	-0.250000	0.11733	AAA	POC1B	-	NULL		0.348	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	T	NM_172240		89860565	-1	no_errors	ENST00000378528	ensembl	human	known	70_37	missense	SNP	0.000	C	C	89860565	T	C	89860565	2	2	158	1	0	0	0	0	0	0	0	1	12200	1838	64	5		5	POC1B	12	89860565	Silent	SNP	T	TCGA-JW-A5VJ-01A-11D-A28B-09	25819487	89860565	43991330	119	28143										
ANO4	121601	genome.wustl.edu	37	chr12	101480535	101480535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtgggcgttaatcaggaataActctcaggttgcaaccacag	11	9	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:101480535A>G	ENST00000392977.3	+	17	1844	c.1634A>G	c.(1633-1635)aAc>aGc	p.N545S	ANO4_ENST00000299222.9_Missense_Mutation_p.N65S|ANO4_ENST00000550015.1_Missense_Mutation_p.N65S|ANO4_ENST00000392979.3_Missense_Mutation_p.N510S			Q32M45	ANO4_HUMAN	anoctamin 4	545					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCAGGAATAACTCTCAGGTT	0.502										HNSCC(74;0.22)																																							0													286	235	252					12																	101480535		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1634A>G	12.37:g.101480535A>G	ENSP00000376703:p.Asn545Ser		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.N545S	ENST00000392977.3	37	c.1634		12	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565354	0.65651	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69175	-0.38;-0.22;-0.38;-0.22	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	L	0.48986	1.54	0.58432	D	0.999997	P;P;P	0.47253	0.675;0.892;0.532	B;P;B	0.52343	0.364;0.696;0.431	T	0.66240	-0.5973	10	0.21014	T	0.42	.	15.924	0.79597	1.0:0.0:0.0:0.0	.	65;545;510	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	510;65;545;65	ENSP00000376705:N510S;ENSP00000299222:N65S;ENSP00000376703:N545S;ENSP00000450192:N65S	ENSP00000299222:N65S	N	+	2	0	ANO4	100004666	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.217000	0.71921	0.533000	0.62120	AAC	ANO4	-	pfam_Anoctamin		0.502	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	A	NM_178826		101480535	1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101480535	A	G	101480535	3	3	158	1	0	0	0	0	1	0	0	0	699	43	2	5	1587	5	ANO4	12	101480535	Missense_Mutation	SNP	A	TCGA-JW-A5VJ-01A-11D-A28B-09	11619970	101480535	32371360	120	28144										
C12orf42	374470	genome.wustl.edu	37	chr12	103696206	103696206	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatgtcgtcggggtgtgcctGagcgcctgctgggactgcca	17	11	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:103696206G>A	ENST00000378113.2	-	6	988	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	C12orf42_ENST00000548883.1_Nonsense_Mutation_p.Q255*|C12orf42_ENST00000548048.1_Nonsense_Mutation_p.Q188*|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	255										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGGTGTGCCTGAGCGCCTGCT	0.672																																																	0													48	57	54					12																	103696206		2085	4213	6298	SO:0001587	stop_gained	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.763C>T	12.37:g.103696206G>A	ENSP00000367353:p.Gln255*		Q49A64|Q4G0S2	Nonsense_Mutation	SNP	NULL	p.Q255*	ENST00000378113.2	37	c.763	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084881	0.55861	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	.	.	.	3.37	0.0861	0.14444	.	2.548460	0.02268	N	0.068191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9191	1.2231	0.01928	0.138:0.2292:0.3986:0.2342	.	.	.	.	X	255;188;255	.	ENSP00000367353:Q255X	Q	-	1	0	C12orf42	102220336	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.656000	0.24948	0.131000	0.18576	0.491000	0.48974	CAG	C12orf42	-	NULL		0.672	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	G	NM_198521		103696206	-1	no_errors	ENST00000378113	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	103696206	G	A	103696206	4	1	158	1	0	0	0	0	0	1	0	0	1692	1299	45	1	323	1	C12orf42	12	103696206	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2215671	103696206	30155689	121	28145			1	119		3	3	129	G		3.356943e-07
C12orf42	374470	genome.wustl.edu	37	chr12	103696275	103696275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	actcgggccggtgctctgcaGagcgccgggcgtctggctcc	16	15	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:103696275G>C	ENST00000378113.2	-	6	919	c.694C>G	c.(694-696)Ctg>Gtg	p.L232V	C12orf42_ENST00000548883.1_Missense_Mutation_p.L232V|C12orf42_ENST00000548048.1_Missense_Mutation_p.L165V|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	232										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTGCTCTGCAGAGCGCCGGGC	0.642																																																	0													32	37	35					12																	103696275		1947	4148	6095	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.694C>G	12.37:g.103696275G>C	ENSP00000367353:p.Leu232Val		Q49A64|Q4G0S2	Missense_Mutation	SNP	NULL	p.L232V	ENST00000378113.2	37	c.694	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041466	0.02013	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.46451	0.87;0.87;0.87	4.24	-0.0954	0.13641	.	2.277640	0.02341	N	0.074858	T	0.26521	0.0648	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.09997	-1.0649	10	0.33940	T	0.23	7.5315	1.8633	0.03193	0.1907:0.3119:0.3566:0.1408	.	232	Q96LP6	CL042_HUMAN	V	232;165;232	ENSP00000447908:L232V;ENSP00000449362:L165V;ENSP00000367353:L232V	ENSP00000367353:L232V	L	-	1	2	C12orf42	102220405	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.123000	0.10611	-0.142000	0.11354	0.561000	0.74099	CTG	C12orf42	-	NULL		0.642	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	G	NM_198521		103696275	-1	no_errors	ENST00000378113	ensembl	human	known	70_37	missense	SNP	0.000	C	C	103696275	G	C	103696275	3	2	158	1	0	0	0	0	1	0	0	0	1692	933	33	1	392	1	C12orf42	12	103696275	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	69	103696275	30155620	122	28146			1	119		3	3	129	G		3.356943e-07
C12orf42	374470	genome.wustl.edu	37	chr12	103696334	103696334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cagtggaaggtctggcggcaGaacctggaaggcaaagcagg	17	8	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:103696334G>A	ENST00000378113.2	-	6	860	c.635C>T	c.(634-636)tCt>tTt	p.S212F	C12orf42_ENST00000548883.1_Missense_Mutation_p.S212F|C12orf42_ENST00000548048.1_Missense_Mutation_p.S145F|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	212										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TCTGGCGGCAGAACCTGGAAG	0.632																																																	0													23	26	25					12																	103696334		1979	4148	6127	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.635C>T	12.37:g.103696334G>A	ENSP00000367353:p.Ser212Phe		Q49A64|Q4G0S2	Missense_Mutation	SNP	NULL	p.S212F	ENST00000378113.2	37	c.635	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607015	0.46527	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.54479	0.57;0.57;0.57	4.24	0.0602	0.14335	.	2.276010	0.02126	N	0.055969	T	0.39682	0.1087	L	0.27053	0.805	0.09310	N	1	B	0.25441	0.126	B	0.25614	0.062	T	0.34477	-0.9827	10	0.87932	D	0	0.7868	3.4212	0.07395	0.4523:0.2103:0.3374:0.0	.	212	Q96LP6	CL042_HUMAN	F	212;145;212	ENSP00000447908:S212F;ENSP00000449362:S145F;ENSP00000367353:S212F	ENSP00000367353:S212F	S	-	2	0	C12orf42	102220464	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.258000	0.18387	0.099000	0.17552	0.561000	0.74099	TCT	C12orf42	-	NULL		0.632	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	G	NM_198521		103696334	-1	no_errors	ENST00000378113	ensembl	human	known	70_37	missense	SNP	0.000	A	A	103696334	G	A	103696334	3	1	158	1	0	0	0	0	1	0	0	0	1692	942	33	1	451	1	C12orf42	12	103696334	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	59	103696334	30155561	123	28147			1	119		3	3	129	G		3.356943e-07
APPL2	55198	genome.wustl.edu	37	chr12	105589110	105589110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gcttgcagagcggtctgattCaacttgatcgcgactgccta	11	11	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:105589110C>T	ENST00000258530.3	-	14	1395	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	APPL2_ENST00000551662.1_Silent_p.L396L|APPL2_ENST00000539978.2_Silent_p.L347L|APPL2_ENST00000549573.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.L390F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CGGTCTGATTCAACTTGATCG	0.473																																																	1	Substitution - Missense(1)	lung(1)											139	118	125					12																	105589110		2203	4300	6503	SO:0001819	synonymous_variant	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1170G>A	12.37:g.105589110C>T			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.L396	ENST00000258530.3	37	c.1188	CCDS9101.1	12																																																																																			APPL2	-	NULL		0.473	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	C	NM_018171		105589110	-1	no_errors	ENST00000551662	ensembl	human	known	70_37	silent	SNP	1.000	T	T	105589110	C	T	105589110	2	4	158	1	0	0	0	0	0	0	0	1	818	825	29	1		1	APPL2	12	105589110	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1892776	105589110	28262785	124	28148										
POLE	5426	genome.wustl.edu	37	chr12	133240966	133240966	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgcactcacccaatctgctCgatcagctcccgtgcctggg	9	17	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr12:133240966C>G	ENST00000320574.5	-	22	2594	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	POLE_ENST00000535270.1_Missense_Mutation_p.E824Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	851					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCAATCTGCTCGATCAGCTCC	0.622								DNA polymerases (catalytic subunits)																																									0													88	71	77					12																	133240966		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2551G>C	12.37:g.133240966C>G	ENSP00000322570:p.Glu851Gln		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.E862Q	ENST00000320574.5	37	c.2584	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.117599	0.94385	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.53	5.53	0.82687	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.74023	0.969;0.982	T	0.65738	-0.6095	10	0.87932	D	0	.	19.5142	0.95155	0.0:1.0:0.0:0.0	.	824;851	F5H1D6;Q07864	.;DPOE1_HUMAN	Q	851;862;824;631;786	ENSP00000322570:E851Q;ENSP00000406383:E862Q;ENSP00000445753:E824Q;ENSP00000442519:E631Q	ENSP00000322570:E851Q	E	-	1	0	POLE	131751039	1.000000	0.71417	0.980000	0.43619	0.913000	0.54294	7.447000	0.80620	2.624000	0.88883	0.638000	0.83543	GAG	POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B		0.622	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	C	NM_006231		133240966	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	133240966	C	G	133240966	3	3	158	1	0	0	0	0	1	0	0	0	12220	893	31	1	4421	1	POLE	12	133240966	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	27651856	133240966	610929	125	28149										
SLC46A3	283537	genome.wustl.edu	37	chr13	29284946	29284946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aacatggaccgtagaacagaGaatggcacaatagtgaaaag	11	6	0	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr13:29284946G>A	ENST00000266943.6	-	4	1464	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SLC46A3_ENST00000380814.4_Silent_p.F365F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	365					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GTAGAACAGAGAATGGCACAA	0.388																																																	0													139	133	135					13																	29284946		2203	4300	6503	SO:0001819	synonymous_variant	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1095C>T	13.37:g.29284946G>A			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F365	ENST00000266943.6	37	c.1095	CCDS9332.1	13																																																																																			SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.388	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	G	NM_181785		29284946	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	silent	SNP	0.088	A	A	29284946	G	A	29284946	2	1	158	1	0	0	0	0	0	0	0	1	14676	933	33	1		1	SLC46A3	13	29284946	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		29284946	85884932	126	28150										
MTUS2	23281	genome.wustl.edu	37	chr13	30054349	30054349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggagctggagaggcggttcGaggacgaggtgaagaggctg	21	5	0	3	rs576374624		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr13:30054349G>A	ENST00000380808.2	+	3	400	c.184G>A	c.(184-186)Gag>Aag	p.E62K	MTUS2-AS1_ENST00000587588.1_RNA|MTUS2-AS1_ENST00000323380.5_RNA|MTUS2_ENST00000431530.3_Missense_Mutation_p.E1093K|MTUS2_ENST00000542829.1_5'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1083						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGCGGTTCGAGGACGAGGT	0.577																																																	0													7	11	9					13																	30054349		1922	4084	6006	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.184G>A	13.37:g.30054349G>A	ENSP00000370186:p.Glu62Lys		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E1093K	ENST00000380808.2	37	c.3277	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900674	0.72754	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000417109	T;T	0.25250	2.43;1.81	5.44	4.59	0.56863	.	0.138051	0.64402	N	0.000004	T	0.29061	0.0722	L	0.34521	1.04	0.80722	D	1	P;D	0.57257	0.886;0.979	B;P	0.52646	0.233;0.705	T	0.01863	-1.1258	9	.	.	.	.	12.8996	0.58119	0.0782:0.0:0.9218:0.0	.	62;1083	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	K	1093;62;45	ENSP00000392057:E1093K;ENSP00000370186:E62K	.	E	+	1	0	MTUS2	28952349	1.000000	0.71417	0.852000	0.33557	0.933000	0.57130	7.379000	0.79691	1.539000	0.49286	0.650000	0.86243	GAG	MTUS2	-	NULL		0.577	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30054349	1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.994	A	A	30054349	G	A	30054349	3	1	158	1	0	0	0	0	1	0	0	0	9989	1059	37	1	3365	1	MTUS2	13	30054349	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	769403	30054349	85115529	127	28151										
LMO7	4008	genome.wustl.edu	37	chr13	76395705	76395705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cacaccaagaccctttggctCtcagacaaggggaatctcat	8	13	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr13:76395705C>T	ENST00000321797.8	+	12	2622	c.1901C>T	c.(1900-1902)tCt>tTt	p.S634F	LMO7_ENST00000357063.3_Missense_Mutation_p.S919F|LMO7_ENST00000377534.3_Missense_Mutation_p.S919F|LMO7_ENST00000341547.4_Missense_Mutation_p.S585F|LMO7_ENST00000465261.2_Missense_Mutation_p.S634F|LMO7_ENST00000526202.1_Missense_Mutation_p.S484F			Q8WWI1	LMO7_HUMAN	LIM domain 7	919					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCTTTGGCTCTCAGACAAGG	0.438																																																	0													59	56	57					13																	76395705		2202	4300	6502	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1901C>T	13.37:g.76395705C>T	ENSP00000317802:p.Ser634Phe		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S919F	ENST00000321797.8	37	c.2756		13	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292480	0.40594	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.91	4.12	0.48240	.	0.665350	0.16070	N	0.231035	T	0.38506	0.1043	M	0.61703	1.905	0.28199	N	0.927416	B;B;B;B;B	0.13145	0.007;0.0;0.003;0.0;0.004	B;B;B;B;B	0.14023	0.003;0.004;0.002;0.002;0.01	T	0.36939	-0.9727	10	0.52906	T	0.07	-2.4257	6.7083	0.23262	0.0:0.5875:0.0:0.4125	.	484;585;919;634;867	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	F	585;919;919;533;634;484;634	ENSP00000342112:S585F;ENSP00000349571:S919F;ENSP00000366757:S919F;ENSP00000366719:S533F;ENSP00000317802:S634F;ENSP00000431129:S484F;ENSP00000433352:S634F	ENSP00000317802:S634F	S	+	2	0	LMO7	75293706	0.035000	0.19736	0.853000	0.33588	0.996000	0.88848	0.464000	0.21988	0.772000	0.33382	0.650000	0.86243	TCT	LMO7	-	NULL		0.438	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76395705	1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.988	T	T	76395705	C	T	76395705	3	4	158	1	0	0	0	0	1	0	0	0	8876	913	32	1	2814	1	LMO7	13	76395705	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	46341356	76395705	38774173	128	28152										
TPP2	7174	genome.wustl.edu	37	chr13	103309409	103309409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tctctccacattcgtaggatGtaatccctgttcattactac	5	12	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr13:103309409G>A	ENST00000376065.4	+	24	2992	c.2956G>A	c.(2956-2958)Gta>Ata	p.V986I	TPP2_ENST00000376052.3_Missense_Mutation_p.V999I|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	986					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCGTAGGATGTAATCCCTGT	0.338																																																	0													94	92	93					13																	103309409		2203	4299	6502	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2956G>A	13.37:g.103309409G>A	ENSP00000365233:p.Val986Ile		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.V986I	ENST00000376065.4	37	c.2956	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575852	0.28092	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.78	1.05	0.20165	.	0.310900	0.39341	N	0.001398	T	0.36441	0.0967	N	0.16656	0.425	0.43771	D	0.996291	B	0.02656	0.0	B	0.04013	0.001	T	0.07849	-1.0751	9	0.22109	T	0.4	.	11.1837	0.48644	0.3752:0.0:0.6248:0.0	.	986	P29144	TPP2_HUMAN	I	986;999	.	ENSP00000365220:V999I	V	+	1	0	TPP2	102107410	1.000000	0.71417	0.986000	0.45419	0.850000	0.48378	0.717000	0.25851	0.163000	0.19507	-0.136000	0.14681	GTA	TPP2	-	NULL		0.338	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	G			103309409	1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	0.997	A	A	103309409	G	A	103309409	3	1	158	1	0	0	0	0	1	0	0	0	16443	1377	48	4	3050	4	TPP2	13	103309409	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	26913704	103309409	11860469	129	28153										
C13orf27	93081	genome.wustl.edu	37	chr13	103418790	103418790	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	atttcagtaatttcttggatCcaaaacaaaatctgtgtatt	5	6	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr13:103418790C>T	ENST00000376032.4	-	6	834	c.645G>A	c.(643-645)tgG>tgA	p.W215*	TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376027.1_3'UTR|TEX30_ENST00000376019.1_Nonsense_Mutation_p.W174*|TEX30_ENST00000376022.1_3'UTR|TEX30_ENST00000376021.4_Nonsense_Mutation_p.W174*	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	215										lung(1)|urinary_tract(1)	2						TTTCTTGGATCCAAAACAAAA	0.333																																																	0													120	115	117					13																	103418790		2203	4300	6503	SO:0001587	stop_gained	93081			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.645G>A	13.37:g.103418790C>T	ENSP00000365200:p.Trp215*		Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	pfam_Dienelactn_hydro	p.W215*	ENST00000376032.4	37	c.645	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	C	36	5.903578	0.97087	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	6.17	6.17	0.99709	.	0.050930	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6663	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	174;174;215	.	ENSP00000365187:W174X	W	-	3	0	C13orf27	102216791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.941000	0.99782	0.655000	0.94253	TGG	TEX30	-	NULL		0.333	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	HGNC	protein_coding	OTTHUMT00000045691.4	C	NM_138779		103418790	-1	no_errors	ENST00000376032	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	103418790	C	T	103418790	4	4	158	1	0	0	0	0	0	1	0	0	1727	856	30	1	42	1	C13orf27	13	103418790	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	109381	103418790	11751088	130	28154										
PSMB11	122706	genome.wustl.edu	37	chr14	23511492	23511492	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	acacccagggaccatcacctCacctgcctcgggctggcggc	11	18	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr14:23511492C>T	ENST00000408907.2	+	1	117	c.58C>T	c.(58-60)Cac>Tac	p.H20Y		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		ACCATCACCTCACCTGCCTCG	0.617																																																	0													73	85	81					14																	23511492		2091	4214	6305	SO:0001583	missense	122706				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.58C>T	14.37:g.23511492C>T	ENSP00000386212:p.His20Tyr			Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.H20Y	ENST00000408907.2	37	c.58	CCDS41923.1	14	.	.	.	.	.	.	.	.	.	.	C	2.870	-0.234159	0.05983	.	.	ENSG00000222028	ENST00000408907	T	0.27104	1.69	5.53	2.76	0.32466	.	0.833594	0.10571	N	0.659137	T	0.11495	0.0280	N	0.08118	0	0.20703	N	0.999868	B	0.06786	0.001	B	0.04013	0.001	T	0.35649	-0.9780	10	0.07482	T	0.82	-4.0103	8.6401	0.33972	0.0:0.7584:0.0:0.2416	.	20	A5LHX3	PSB11_HUMAN	Y	20	ENSP00000386212:H20Y	ENSP00000386212:H20Y	H	+	1	0	PSMB11	22581332	0.001000	0.12720	0.230000	0.23976	0.571000	0.35966	1.412000	0.34714	0.309000	0.22966	-0.137000	0.14449	CAC	PSMB11	-	NULL		0.617	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB11	HGNC	protein_coding	OTTHUMT00000408294.1	C	NM_001099780		23511492	1	no_errors	ENST00000408907	ensembl	human	known	70_37	missense	SNP	0.639	T	T	23511492	C	T	23511492	3	4	158	1	0	0	0	0	1	0	0	0	12703	826	29	1	60	1	PSMB11	14	23511492	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		23511492	83838048	131	28155										
ACIN1	22985	genome.wustl.edu	37	chr14	23532260	23532260	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgctggctaatggaacgtcGagttaaggtatctcctaaag	11	8	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr14:23532260G>A	ENST00000262710.1	-	14	3262	c.2935C>T	c.(2935-2937)Cga>Tga	p.R979*	ACIN1_ENST00000457657.1_Nonsense_Mutation_p.R939*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.R252*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.R921*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.R221*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.R220*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.R221*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.R966*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	979					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGGAACGTCGAGTTAAGGTA	0.498																																																	0													154	143	146					14																	23532260		2203	4300	6503	SO:0001587	stop_gained	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2935C>T	14.37:g.23532260G>A	ENSP00000262710:p.Arg979*		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R979*	ENST00000262710.1	37	c.2935	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366417	0.82463	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	.	.	.	5.5	1.57	0.23409	.	0.000000	0.34245	N	0.004124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7541	5.8096	0.18460	0.1428:0.0:0.4439:0.4133	.	.	.	.	X	220;252;221;979;939;221;966	.	ENSP00000262710:R979X	R	-	1	2	ACIN1	22602100	1.000000	0.71417	0.085000	0.20634	0.986000	0.74619	4.090000	0.57693	0.117000	0.18138	-1.047000	0.02352	CGA	ACIN1	-	NULL		0.498	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23532260	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	nonsense	SNP	0.741	A	A	23532260	G	A	23532260	4	1	158	1	0	0	0	0	0	1	0	0	142	1066	37	1	1114	1	ACIN1	14	23532260	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	20768	23532260	83817280	132	28156										
IL25	64806	genome.wustl.edu	37	chr14	23844858	23844858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gacagagacttgaaccggctCccccaggacctgtaccacgc	10	16	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr14:23844858C>T	ENST00000329715.2	+	2	561	c.303C>T	c.(301-303)ctC>ctT	p.L101L	CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|IL25_ENST00000397242.2_Silent_p.L85L|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	101					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TGAACCGGCTCCCCCAGGACC	0.652																																																	0													99	101	100					14																	23844858		2203	4300	6503	SO:0001819	synonymous_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.303C>T	14.37:g.23844858C>T			Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	pfam_Interleukin-17	p.L101	ENST00000329715.2	37	c.303	CCDS9597.1	14																																																																																			IL25	-	pfam_Interleukin-17		0.652	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	HGNC	protein_coding	OTTHUMT00000071789.2	C			23844858	1	no_errors	ENST00000329715	ensembl	human	known	70_37	silent	SNP	0.994	T	T	23844858	C	T	23844858	2	4	158	1	0	0	0	0	0	0	0	1	7698	842	30	1		1	IL25	14	23844858	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	312598	23844858	83504682	133	28157										
SOS2	6655	genome.wustl.edu	37	chr14	50616733	50616733	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	attaattgtctacctgtaaaGatcagactccaaaagtgtca	6	8	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr14:50616733G>A	ENST00000216373.5	-	14	2651	c.2377C>T	c.(2377-2379)Ctt>Ttt	p.L793F	SOS2_ENST00000543680.1_Missense_Mutation_p.L760F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	793	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACCTGTAAAGATCAGACTCC	0.333																																																	0													130	124	126					14																	50616733		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2377C>T	14.37:g.50616733G>A	ENSP00000216373:p.Leu793Phe		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L793F	ENST00000216373.5	37	c.2377	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410822	0.83340	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.36340	1.26;1.26	5.52	5.52	0.82312	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.91196	3.185	0.80722	D	1	P;P	0.48911	0.907;0.917	B;B	0.41088	0.347;0.278	T	0.66874	-0.5813	10	0.54805	T	0.06	.	19.4316	0.94772	0.0:0.0:1.0:0.0	.	760;793	B7ZKT6;Q07890	.;SOS2_HUMAN	F	793;760	ENSP00000216373:L793F;ENSP00000445328:L760F	ENSP00000216373:L793F	L	-	1	0	SOS2	49686483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.027000	0.88791	2.606000	0.88127	0.655000	0.94253	CTT	SOS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	G			50616733	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50616733	G	A	50616733	3	1	158	1	0	0	0	0	1	0	0	0	14967	942	33	1	1661	1	SOS2	14	50616733	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	26771875	50616733	56732807	134	28158										
PPP2R5E	5529	genome.wustl.edu	37	chr14	63848852	63848852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ccataaatgccttcaacacaTtgtacaccaacgccacaata	3	14	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr14:63848852T>C	ENST00000337537.3	-	13	1828	c.1226A>G	c.(1225-1227)aAt>aGt	p.N409S	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.N409S|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.N333S	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	409					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTTCAACACATTGTACACCAA	0.398																																																	0													124	91	102					14																	63848852		2203	4300	6503	SO:0001583	missense	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1226A>G	14.37:g.63848852T>C	ENSP00000337641:p.Asn409Ser		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.N409S	ENST00000337537.3	37	c.1226	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227762	0.79576	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.83852	2.665	0.80722	D	1	D;D	0.54397	0.966;0.96	P;P	0.56278	0.534;0.795	T	0.81675	-0.0825	9	0.87932	D	0	-11.1154	15.7304	0.77800	0.0:0.0:0.0:1.0	.	409;409	B7ZKK9;Q16537	.;2A5E_HUMAN	S	409;409;333	.	ENSP00000337641:N409S	N	-	2	0	PPP2R5E	62918605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.997000	0.88414	2.184000	0.69523	0.528000	0.53228	AAT	PPP2R5E	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.398	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	T	NM_006246		63848852	-1	no_errors	ENST00000337537	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63848852	T	C	63848852	3	2	158	1	0	0	0	0	1	0	0	0	12423	1493	52	5	185	5	PPP2R5E	14	63848852	Missense_Mutation	SNP	T	TCGA-JW-A5VJ-01A-11D-A28B-09	13232119	63848852	43500688	135	28159										
CATSPER2	117155	genome.wustl.edu	37	chr15	43931925	43931925	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agagacctcagcacccggcaGatcctcagaagctgaagcca	10	14	2	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr15:43931925G>A	ENST00000321596.5	-	6	832	c.633C>T	c.(631-633)atC>atT	p.I211I	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000354127.4_Silent_p.I211I|CATSPER2_ENST00000381761.1_Silent_p.I217I|CATSPER2_ENST00000355438.2_Silent_p.I211I|CATSPER2_ENST00000396879.1_Silent_p.I211I|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	211					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCACCCGGCAGATCCTCAGAA	0.483																																																	0													49	58	55					15																	43931925		2191	4278	6469	SO:0001819	synonymous_variant	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.633C>T	15.37:g.43931925G>A			Q8NHT9|Q96P54|Q96P55	Silent	SNP	pfam_Ion_trans_dom	p.I211	ENST00000321596.5	37	c.633	CCDS10099.1	15																																																																																			CATSPER2	-	pfam_Ion_trans_dom		0.483	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	G	NM_054020		43931925	-1	no_errors	ENST00000299989	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43931925	G	A	43931925	2	1	158	1	0	0	0	0	0	0	0	1	2693	932	33	1		1	CATSPER2	15	43931925	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		43931925	58599467	136	28160										
DMXL2	23312	genome.wustl.edu	37	chr15	51868299	51868299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cacagctgacttggatgtttCcatgcttagcaccaggaatg	10	10	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr15:51868299C>G	ENST00000251076.5	-	2	454	c.167G>C	c.(166-168)gGa>gCa	p.G56A	DMXL2_ENST00000543779.2_Missense_Mutation_p.G56A|DMXL2_ENST00000449909.3_Missense_Mutation_p.G56A|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	56						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGGATGTTTCCATGCTTAGC	0.323																																																	0													147	136	140					15																	51868299		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.167G>C	15.37:g.51868299C>G	ENSP00000251076:p.Gly56Ala		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G56A	ENST00000251076.5	37	c.167	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.071881	0.93950	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.11821	2.74;2.74;2.74	5.32	5.32	0.75619	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.73962	2.25	0.41549	D	0.988561	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.31447	-0.9943	10	0.72032	D	0.01	.	19.0042	0.92843	0.0:1.0:0.0:0.0	.	56;56;56	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	A	56	ENSP00000251076:G56A;ENSP00000441858:G56A;ENSP00000400855:G56A	ENSP00000251076:G56A	G	-	2	0	DMXL2	49655591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.486000	0.83907	0.650000	0.86243	GGA	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.323	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51868299	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51868299	C	G	51868299	3	3	158	1	0	0	0	0	1	0	0	0	4605	855	30	1	9114	1	DMXL2	15	51868299	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	7936374	51868299	50663093	137	28161										
MAPK6	5597	genome.wustl.edu	37	chr15	52356856	52356856	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggactgttttttcataaatCagttttgtgaggtaaggaag	11	3	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr15:52356856C>T	ENST00000261845.5	+	6	2632	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	609					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TTTCATAAATCAGTTTTGTGA	0.408																																																	0													74	75	75					15																	52356856		2195	4293	6488	SO:0001587	stop_gained	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1825C>T	15.37:g.52356856C>T	ENSP00000261845:p.Gln609*		B2R945|B5BU65|Q68DH4|Q8IYN8	Nonsense_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,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom	p.Q609*	ENST00000261845.5	37	c.1825	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	C	43	9.919301	0.99295	.	.	ENSG00000069956	ENST00000261845	.	.	.	5.27	4.33	0.51752	.	0.100405	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1715	15.8865	0.79255	0.0:0.8642:0.1358:0.0	.	.	.	.	X	609	.	ENSP00000261845:Q609X	Q	+	1	0	MAPK6	50144148	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.797000	0.55514	1.234000	0.43709	0.543000	0.68304	CAG	MAPK6	-	NULL		0.408	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	C	NM_002748		52356856	1	no_errors	ENST00000261845	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	52356856	C	T	52356856	4	4	158	1	0	0	0	0	0	1	0	0	9304	827	29	1	1843	1	MAPK6	15	52356856	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	488557	52356856	50174536	138	28162										
LINGO1	84894	genome.wustl.edu	37	chr15	77907603	77907603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gagcctcaggacgatgaggcCgtgcaggtgggacagcgcct	17	11	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr15:77907603C>T	ENST00000355300.6	-	2	820	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	LINGO1_ENST00000561030.1_Missense_Mutation_p.G210S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	216					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACGATGAGGCCGTGCAGGTGG	0.612																																																	0													108	118	115					15																	77907603		2177	4273	6450	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.646G>A	15.37:g.77907603C>T	ENSP00000347451:p.Gly216Ser		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G216S	ENST00000355300.6	37	c.646	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	4.861	0.160104	0.09287	.	.	ENSG00000169783	ENST00000355300	T	0.77620	-1.11	5.47	3.54	0.40534	.	0.232561	0.51477	N	0.000091	T	0.49881	0.1583	N	0.02412	-0.56	0.58432	D	0.999997	B	0.20459	0.045	B	0.20384	0.029	T	0.37596	-0.9699	10	0.08599	T	0.76	.	11.2121	0.48804	0.0:0.8458:0.0:0.1542	.	216	Q96FE5	LIGO1_HUMAN	S	216	ENSP00000347451:G216S	ENSP00000347451:G216S	G	-	1	0	LINGO1	75694658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.643000	0.46604	0.634000	0.30469	0.561000	0.74099	GGC	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp		0.612	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	C	NM_032808		77907603	-1	no_errors	ENST00000355300	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77907603	C	T	77907603	3	4	158	1	0	0	0	0	1	0	0	0	8835	652	23	2	1220	2	LINGO1	15	77907603	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	25550747	77907603	24623789	139	28163										
ADAMTS7	11173	genome.wustl.edu	37	chr15	79058074	79058074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcagccaggctgggagccagCggctgggtctcagggactct	16	12	3	0	rs2929157		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr15:79058074C>T	ENST00000388820.4	-	19	4389	c.4179G>A	c.(4177-4179)ccG>ccA	p.P1393P	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1393					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGGAGCCAGCGGCTGGGTCT	0.682																																																	0													27	35	32					15																	79058074		2175	4261	6436	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4179G>A	15.37:g.79058074C>T			Q14F51|Q6P7J9	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1393	ENST00000388820.4	37	c.4179	CCDS32303.1	15																																																																																			ADAMTS7	-	NULL		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	C	NM_014272		79058074	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	silent	SNP	0.000	T	T	79058074	C	T	79058074	2	4	158	1	0	0	0	0	0	0	0	1	271	755	27	2		2	ADAMTS7	15	79058074	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1150471	79058074	23473318	140	28164										
CHD2	1106	genome.wustl.edu	37	chr15	93558026	93558026	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatatctcagtcccatacctCacacaaccttcaccctcaga	3	17	4	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr15:93558026C>G	ENST00000394196.4	+	37	5861	c.4793C>G	c.(4792-4794)tCa>tGa	p.S1598*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.S1598*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1598					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCCCATACCTCACACAACCTT	0.527																																																	0													170	164	166					15																	93558026		2197	4298	6495	SO:0001587	stop_gained	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4793C>G	15.37:g.93558026C>G	ENSP00000377747:p.Ser1598*		C6G482|Q96IP5	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1598*	ENST00000394196.4	37	c.4793	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	50	16.298595	0.99860	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	.	.	.	5.8	5.8	0.92144	.	0.244717	0.20614	U	0.088912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-1.0882	20.0544	0.97645	0.0:1.0:0.0:0.0	.	.	.	.	X	1598;1598;123	.	ENSP00000377747:S1598X	S	+	2	0	CHD2	91359030	0.900000	0.30661	0.246000	0.24233	0.990000	0.78478	5.330000	0.65899	2.746000	0.94184	0.591000	0.81541	TCA	CHD2	-	NULL		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	C	NM_001271		93558026	1	no_errors	ENST00000557381	ensembl	human	putative	70_37	nonsense	SNP	0.616	G	G	93558026	C	G	93558026	4	3	158	1	0	0	0	0	0	1	0	0	3330	838	29	1	4939	1	CHD2	15	93558026	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	14499952	93558026	8973366	141	28165										
RAB40C	57799	genome.wustl.edu	37	chr16	675917	675917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agcatgcacccggagtccccCggatcttggttggaaaccgg	13	13	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:675917C>T	ENST00000248139.3	+	5	564	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RAB40C_ENST00000538492.1_Missense_Mutation_p.R121W|RAB40C_ENST00000539661.1_Missense_Mutation_p.R121W|RAB40C_ENST00000535977.1_Missense_Mutation_p.R121W	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	121					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CGGAGTCCCCCGGATCTTGGT	0.647																																					Melanoma(123;1631 1690 28262 44104 44957)												0													31	35	34					16																	675917		2198	4299	6497	SO:0001583	missense	57799			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.361C>T	16.37:g.675917C>T	ENSP00000248139:p.Arg121Trp		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R121W	ENST00000248139.3	37	c.361	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535574	0.64972	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.22	4.26	0.50523	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	L	0.52905	1.665	0.54753	D	0.999987	D	0.76494	0.999	D	0.70227	0.968	D	0.86779	0.1978	10	0.87932	D	0	.	12.2567	0.54627	0.308:0.692:0.0:0.0	.	121	Q96S21	RB40C_HUMAN	W	121	ENSP00000438492:R121W;ENSP00000445050:R121W;ENSP00000438382:R121W;ENSP00000248139:R121W	ENSP00000248139:R121W	R	+	1	2	RAB40C	615918	0.493000	0.26035	1.000000	0.80357	0.675000	0.39556	1.109000	0.31135	1.189000	0.43028	0.561000	0.74099	CGG	RAB40C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.647	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4	C	NM_021168		675917	1	no_errors	ENST00000248139	ensembl	human	known	70_37	missense	SNP	1.000	T	T	675917	C	T	675917	3	4	158	1	0	0	0	0	1	0	0	0	12972	643	23	2	379	2	RAB40C	16	675917	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		675917	89678836	142	28166										
GNPTG	84572	genome.wustl.edu	37	chr16	1412296	1412296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgacgttcgagacccccctCgtctgccacccccacgcctt	7	21	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:1412296C>T	ENST00000204679.4	+	7	544	c.501C>T	c.(499-501)ctC>ctT	p.L167L	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	167					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGACCCCCCTCGTCTGCCACC	0.682																																																	0													34	33	33					16																	1412296		2198	4298	6496	SO:0001819	synonymous_variant	84572			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.501C>T	16.37:g.1412296C>T			B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L167	ENST00000204679.4	37	c.501	CCDS10436.1	16																																																																																			GNPTG	-	superfamily_Man6P_isomerase_rcpt-bd_dom		0.682	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	C	NM_032520		1412296	1	no_errors	ENST00000204679	ensembl	human	known	70_37	silent	SNP	0.179	T	T	1412296	C	T	1412296	2	4	158	1	0	0	0	0	0	0	0	1	6565	871	31	1		1	GNPTG	16	1412296	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	736379	1412296	88942457	143	28167										
ABCA3	21	genome.wustl.edu	37	chr16	2345606	2345606	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cgtacctgtgcgtgctctctCtgggaaggatgaaagacagc	13	10	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:2345606C>A	ENST00000301732.5	-	18	3099	c.2399G>T	c.(2398-2400)aGa>aTa	p.R800I	ABCA3_ENST00000382381.3_Missense_Mutation_p.R742I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	800					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGTGCTCTCTCTGGGAAGGAT	0.627																																																	0													148	150	149					16																	2345606		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2399G>T	16.37:g.2345606C>A	ENSP00000301732:p.Arg800Ile		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R800I	ENST00000301732.5	37	c.2399	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736258	0.30774	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.78707	-1.2	5.65	4.56	0.56223	.	0.099206	0.64402	D	0.000002	T	0.68174	0.2972	L	0.38838	1.175	0.80722	D	1	B;B;B	0.17465	0.001;0.005;0.022	B;B;B	0.17098	0.007;0.007;0.017	T	0.65084	-0.6254	10	0.66056	D	0.02	.	10.0058	0.41957	0.0:0.0806:0.0:0.9194	.	800;804;800	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	I	800;804	ENSP00000301732:R800I	ENSP00000301732:R800I	R	-	2	0	ABCA3	2285607	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	2.496000	0.45346	1.164000	0.42652	-0.302000	0.09304	AGA	ABCA3	-	NULL		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	C	NM_001089		2345606	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2345606	C	A	2345606	3	1	158	1	0	0	0	0	1	0	0	0	33	913	32	3	2779	3	ABCA3	16	2345606	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	933310	2345606	88009147	144	28168										
UBN1	29855	genome.wustl.edu	37	chr16	4921180	4921180	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctactgtgccaggtggtgaaGatcaaactggagagccagga	14	8	1	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:4921180G>A	ENST00000396658.4	+	11	2287	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	UBN1_ENST00000262376.6_Silent_p.K528K|UBN1_ENST00000545171.1_Silent_p.K528K|UBN1_ENST00000590769.1_Silent_p.K528K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	528					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGTGGTGAAGATCAAACTGG	0.532																																																	0													113	108	110					16																	4921180		2197	4300	6497	SO:0001819	synonymous_variant	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1584G>A	16.37:g.4921180G>A			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	NULL	p.K528	ENST00000396658.4	37	c.1584	CCDS10525.1	16																																																																																			UBN1	-	NULL		0.532	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	G	NM_016936		4921180	1	no_errors	ENST00000262376	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4921180	G	A	4921180	2	1	158	1	0	0	0	0	0	0	0	1	16923	933	33	1		1	UBN1	16	4921180	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2575574	4921180	85433573	145	28169										
PPL	5493	genome.wustl.edu	37	chr16	4937187	4937187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttctgcagcctctgtctgttGatggcataaacttcagtgaa	9	9	4	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:4937187G>C	ENST00000345988.2	-	21	2645	c.2556C>G	c.(2554-2556)atC>atG	p.I852M	PPL_ENST00000590782.2_Missense_Mutation_p.I850M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	852					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGTCTGTTGATGGCATAAA	0.463																																																	0													172	174	173					16																	4937187		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2556C>G	16.37:g.4937187G>C	ENSP00000340510:p.Ile852Met		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I852M	ENST00000345988.2	37	c.2556	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118652	0.56505	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.41	5.41	0.78517	.	0.310478	0.31323	N	0.007858	T	0.42223	0.1193	L	0.41236	1.265	0.38682	D	0.952576	P	0.43477	0.808	B	0.41088	0.347	T	0.44390	-0.9331	10	0.42905	T	0.14	.	14.7302	0.69374	0.0:0.2569:0.7431:0.0	.	852	O60437	PEPL_HUMAN	M	852	ENSP00000340510:I852M	ENSP00000340510:I852M	I	-	3	3	PPL	4877188	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.873000	0.39558	2.539000	0.85634	0.655000	0.94253	ATC	PPL	-	smart_Spectrin/alpha-actinin		0.463	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	G	NM_002705		4937187	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4937187	G	C	4937187	3	2	158	1	0	0	0	0	1	0	0	0	12361	1280	45	1	2722	1	PPL	16	4937187	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	16007	4937187	85417566	146	28170										
TMC5	79838	genome.wustl.edu	37	chr16	19468108	19468108	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggtccaaagccacccatcctCaaatcagatttttcaagaaa	5	12	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:19468108C>G	ENST00000396229.2	+	6	1797				TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000219821.5_Nonsense_Mutation_p.S27*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CACCCATCCTCAAATCAGATT	0.443																																																	0													99	86	90					16																	19468108		2197	4300	6497	SO:0001627	intron_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1049-3449C>G	16.37:g.19468108C>G			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Nonsense_Mutation	SNP	pfam_TMC	p.S27*	ENST00000396229.2	37	c.80	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.894136	0.97916	.	.	ENSG00000103534	ENST00000219821	.	.	.	3.71	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	8.4858	0.33071	0.231:0.769:0.0:0.0	.	.	.	.	X	27	.	ENSP00000219821:S27X	S	+	2	0	TMC5	19375609	0.000000	0.05858	0.004000	0.12327	0.782000	0.44232	0.421000	0.21280	1.103000	0.41568	0.650000	0.86243	TCA	TMC5	-	NULL		0.443	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	C	NM_024780		19468108	1	no_errors	ENST00000219821	ensembl	human	known	70_37	nonsense	SNP	0.006	G	G	19468108	C	G	19468108	1	3	158	0	1	0	0	0	0	0	0	0	16018	838	29	1		1	TMC5	16	19468108	Intron	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	14530921	19468108	70886645	147	28171										
TMC5	79838	genome.wustl.edu	37	chr16	19468272	19468272	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctttgaatgagtcgatgtctCagacccttcatagcctagaa	8	10	2	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:19468272C>G	ENST00000396229.2	+	6	1797				TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.Q82E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCGATGTCTCAGACCCTTCA	0.453																																																	0													122	106	112					16																	19468272		2197	4300	6497	SO:0001627	intron_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1049-3285C>G	16.37:g.19468272C>G			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.Q82E	ENST00000396229.2	37	c.244	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	C	7.854	0.724568	0.15439	.	.	ENSG00000103534	ENST00000219821	T	0.69435	-0.4	3.87	1.86	0.25419	.	.	.	.	.	T	0.45558	0.1348	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.24048	-1.0171	9	0.02654	T	1	.	10.2452	0.43336	0.0:0.6077:0.3923:0.0	.	82;82	Q6UXY8-3;B3KUQ8	.;.	E	82	ENSP00000219821:Q82E	ENSP00000219821:Q82E	Q	+	1	0	TMC5	19375773	0.040000	0.19996	0.036000	0.18154	0.002000	0.02628	1.694000	0.37752	0.593000	0.29745	-0.165000	0.13383	CAG	TMC5	-	NULL		0.453	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	C	NM_024780		19468272	1	no_errors	ENST00000219821	ensembl	human	known	70_37	missense	SNP	0.041	G	G	19468272	C	G	19468272	1	3	158	0	1	0	0	0	0	0	0	0	16018	827	29	1		1	TMC5	16	19468272	Intron	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	164	19468272	70886481	148	28172										
ZNF646	9726	genome.wustl.edu	37	chr16	31089785	31089785	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctccccaagacccttcagggGaaagtcctcatggggctgaa	11	13	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:31089785G>T	ENST00000394979.2	+	1	2563	c.2140G>T	c.(2140-2142)Gaa>Taa	p.E714*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E714*			O15015	ZN646_HUMAN	zinc finger protein 646	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCTTCAGGGGAAAGTCCTCA	0.577																																																	0													61	69	66					16																	31089785		2197	4300	6497	SO:0001587	stop_gained	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2140G>T	16.37:g.31089785G>T	ENSP00000378429:p.Glu714*		Q8IVD8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E714*	ENST00000394979.2	37	c.2140		16	.	.	.	.	.	.	.	.	.	.	G	39	7.482920	0.98312	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	.	.	.	5.12	0.681	0.17986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-1.0904	5.5822	0.17256	0.2728:0.15:0.5771:0.0	.	.	.	.	X	714	.	ENSP00000300850:E714X	E	+	1	0	ZNF646	30997286	0.006000	0.16342	0.001000	0.08648	0.009000	0.06853	0.166000	0.16583	0.325000	0.23359	-0.244000	0.11960	GAA	ZNF646	-	NULL		0.577	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31089785	1	no_errors	ENST00000300850	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	31089785	G	T	31089785	4	4	158	1	0	0	0	0	0	1	0	0	18092	1175	41	3	2142	3	ZNF646	16	31089785	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	11621513	31089785	59264968	149	28173										
CNOT1	23019	genome.wustl.edu	37	chr16	58581544	58581544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	caagttcttcagcaaagaacGatctgagaaattggctgcag	10	8	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr16:58581544G>A	ENST00000317147.5	-	26	3897	c.3565C>T	c.(3565-3567)Cgt>Tgt	p.R1189C	CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184C|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGCAAAGAACGATCTGAGAAA	0.363																																																	0													76	71	73					16																	58581544		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3565C>T	16.37:g.58581544G>A	ENSP00000320949:p.Arg1189Cys		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.R1189C	ENST00000317147.5	37	c.3565	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.266781	0.95399	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.20463	2.07;2.07	5.91	5.91	0.95273	.	0.048935	0.85682	D	0.000000	T	0.56485	0.1988	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.999	D;P;D	0.79108	0.992;0.664;0.94	T	0.63637	-0.6592	10	0.87932	D	0	.	18.4816	0.90813	0.0:0.0:1.0:0.0	.	1189;1189;1184	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	1189;1184;1189	ENSP00000320949:R1189C;ENSP00000413113:R1189C	ENSP00000320949:R1189C	R	-	1	0	CNOT1	57139045	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.894000	0.87336	2.804000	0.96469	0.650000	0.86243	CGT	CNOT1	-	NULL		0.363	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	G	NM_016284		58581544	-1	no_errors	ENST00000317147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58581544	G	A	58581544	3	1	158	1	0	0	0	0	1	0	0	0	3622	1058	37	1	3883	1	CNOT1	16	58581544	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	27491759	58581544	31773209	150	28174										
SERPINF2	5345	genome.wustl.edu	37	chr17	1657566	1657566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cattgccatgtcccgcatgtCcctgtcctccttcagcgtga	8	16	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:1657566C>T	ENST00000324015.3	+	10	1291	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	SERPINF2_ENST00000382061.4_Missense_Mutation_p.S405F|SERPINF2_ENST00000450523.2_Missense_Mutation_p.S341F	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	405		Reactive bond for chymotrypsin.			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TCCCGCATGTCCCTGTCCTCC	0.657																																																	0													146	120	129					17																	1657566		2203	4300	6503	SO:0001583	missense	5345			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1214C>T	17.37:g.1657566C>T	ENSP00000321853:p.Ser405Phe		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S405F	ENST00000324015.3	37	c.1214	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608883	0.87258	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000382061	T;T;T	0.39592	1.07;1.07;1.07	5.63	5.63	0.86233	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74140	-0.3761	9	.	.	.	.	18.6627	0.91477	0.0:1.0:0.0:0.0	.	341;405	B4E1B7;P08697	.;A2AP_HUMAN	F	405;341;405	ENSP00000321853:S405F;ENSP00000403877:S341F;ENSP00000371493:S405F	.	S	+	2	0	SERPINF2	1604316	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.299000	0.78831	2.654000	0.90174	0.655000	0.94253	TCC	SERPINF2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.657	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3	C	NM_000934		1657566	1	no_errors	ENST00000324015	ensembl	human	known	70_37	missense	SNP	0.998	T	T	1657566	C	T	1657566	3	4	158	1	0	0	0	0	1	0	0	0	14145	855	30	1	1258	1	SERPINF2	17	1657566	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		1657566	79537644	151	28175										
ALOX15	246	genome.wustl.edu	37	chr17	4541560	4541560	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agttcctccatgcctggaggGaacactaggcgagcaggaag	14	10	0	0	rs3887815	byFrequency	TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:4541560G>A	ENST00000570836.1	-	7	855	c.759C>T	c.(757-759)ttC>ttT	p.F253F	ALOX15_ENST00000574640.1_Silent_p.F214F|ALOX15_ENST00000545513.1_Silent_p.F275F|ALOX15_ENST00000293761.3_Silent_p.F253F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	253	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGCCTGGAGGGAACACTAGGC	0.582																																																	0													1	1	1					17																	4541560		1054	2236	3290	SO:0001819	synonymous_variant	246			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.759C>T	17.37:g.4541560G>A			A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.F275	ENST00000570836.1	37	c.825	CCDS11049.1	17																																																																																			ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C		0.582	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2	G			4541560	-1	no_errors	ENST00000545513	ensembl	human	known	70_37	silent	SNP	0.662	A	A	4541560	G	A	4541560	2	1	158	1	0	0	0	0	0	0	0	1	538	1165	41	1		1	ALOX15	17	4541560	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2883994	4541560	76653650	152	28176										
RPAIN	4927	genome.wustl.edu	37	chr17	5324784	5324784	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	attgtccagaagacttggctCaggtcaggctgggctatgtg	14	8	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:5324784C>T	ENST00000573584.1	-	0	0				RPAIN_ENST00000405578.4_Nonsense_Mutation_p.Q84*|RPAIN_ENST00000574003.1_Nonsense_Mutation_p.Q84*|RPAIN_ENST00000327154.6_Nonsense_Mutation_p.Q84*|RPAIN_ENST00000536255.2_Nonsense_Mutation_p.Q84*|RPAIN_ENST00000381208.5_Nonsense_Mutation_p.Q84*|RPAIN_ENST00000381209.3_Nonsense_Mutation_p.Q84*	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AGACTTGGCTCAGGTCAGGCT	0.493																																																	0													78	67	70					17																	5324784		2203	4300	6503	SO:0001631	upstream_gene_variant	84268			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453		17.37:g.5324784C>T	Exception_encountered		D3DTM2|Q9BWE5	Nonsense_Mutation	SNP	NULL	p.Q84*	ENST00000573584.1	37	c.250	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.646637	0.97730	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000539417;ENST00000536255;ENST00000405578;ENST00000540734;ENST00000327154	.	.	.	5.2	5.2	0.72013	.	0.496219	0.24162	N	0.040972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.5612	14.1706	0.65508	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000315069:Q84X	Q	+	1	0	RPAIN	5265508	0.998000	0.40836	0.998000	0.56505	0.335000	0.28730	4.200000	0.58433	2.729000	0.93468	0.461000	0.40582	CAG	RPAIN	-	NULL		0.493	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAIN	HGNC	protein_coding	OTTHUMT00000216918.3	C	NM_002532		5324784	1	no_errors	ENST00000405578	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	5324784	C	T	5324784	1	4	158	0	1	0	0	0	0	0	0	0	13570	827	29	1		1	RPAIN	17	5324784	5'Flank	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	783224	5324784	75870426	153	28177										
MYH13	8735	genome.wustl.edu	37	chr17	10209931	10209931	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgttccttctttagctcctCagccatcatggcagcctggt	8	14	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:10209931C>T	ENST00000418404.3	-	36	5474	c.5311G>A	c.(5311-5313)Gag>Aag	p.E1771K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1771K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1771					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTAGCTCCTCAGCCATCATG	0.582																																																	0													85	82	83					17																	10209931		2203	4300	6503	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5311G>A	17.37:g.10209931C>T	ENSP00000404570:p.Glu1771Lys		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1771K	ENST00000418404.3	37	c.5311	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647133	0.87958	.	.	ENSG00000006788	ENST00000252172	T	0.80738	-1.41	4.35	3.38	0.38709	Myosin tail (1);	.	.	.	.	D	0.90369	0.6986	M	0.92833	3.35	0.41919	D	0.990509	P	0.51147	0.942	P	0.62435	0.902	D	0.92152	0.5729	9	0.66056	D	0.02	.	12.7831	0.57489	0.0:0.92:0.0:0.08	.	1771	Q9UKX3	MYH13_HUMAN	K	1771	ENSP00000252172:E1771K	ENSP00000252172:E1771K	E	-	1	0	MYH13	10150656	1.000000	0.71417	0.839000	0.33178	0.979000	0.70002	7.615000	0.83006	1.183000	0.42943	0.591000	0.81541	GAG	MYH13	-	pfam_Myosin_tail		0.582	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10209931	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	0.998	T	T	10209931	C	T	10209931	3	4	158	1	0	0	0	0	1	0	0	0	10055	835	29	1	525	1	MYH13	17	10209931	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	4885147	10209931	70985279	154	28178										
MYH2	4620	genome.wustl.edu	37	chr17	10432195	10432195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttcatgctgtagggtggcctCctccaggtccctgcgcattt	11	13	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:10432195C>T	ENST00000245503.5	-	27	3940	c.3556G>A	c.(3556-3558)Gag>Aag	p.E1186K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1186K|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1186					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGGTGGCCTCCTCCAGGTCC	0.592																																																	0													87	91	90					17																	10432195		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3556G>A	17.37:g.10432195C>T	ENSP00000245503:p.Glu1186Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1186K	ENST00000245503.5	37	c.3556	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.253731	0.95336	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.89485	-2.52;-2.52	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.96288	0.8789	H	0.98005	4.125	0.58432	D	0.999999	P	0.42941	0.794	P	0.54544	0.755	D	0.97421	1.0009	10	0.87932	D	0	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1186	Q9UKX2	MYH2_HUMAN	K	1186	ENSP00000245503:E1186K;ENSP00000380367:E1186K	ENSP00000245503:E1186K	E	-	1	0	MYH2	10372920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.425000	0.80255	2.707000	0.92482	0.655000	0.94253	GAG	MYH2	-	pfam_Myosin_tail		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10432195	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10432195	C	T	10432195	3	4	158	1	0	0	0	0	1	0	0	0	10058	864	30	1	2325	1	MYH2	17	10432195	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	222264	10432195	70763015	155	28179										
AKAP10	11216	genome.wustl.edu	37	chr17	19844226	19844226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaaataaaagagggctgactCacagaagagaatgtcagcca	11	7	2	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:19844226C>T	ENST00000225737.6	-	7	1316	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	AKAP10_ENST00000395536.3_Missense_Mutation_p.E387K	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	387	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AGGGCTGACTCACAGAAGAGA	0.443																																																	0													61	59	60					17																	19844226		2203	4300	6503	SO:0001583	missense	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1159G>A	17.37:g.19844226C>T	ENSP00000225737:p.Glu387Lys		B2R650|Q96AJ7	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.E387K	ENST00000225737.6	37	c.1159	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.769913	0.96914	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.20881	2.04	5.9	5.9	0.94986	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.983;0.975	T	0.39014	-0.9634	10	0.59425	D	0.04	-12.2104	19.2604	0.93966	0.0:1.0:0.0:0.0	.	387;387;387	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	K	387	ENSP00000225737:E387K	ENSP00000225737:E387K	E	-	1	0	AKAP10	19784818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.793000	0.96121	0.563000	0.77884	GAG	AKAP10	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.443	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2	C	NM_007202		19844226	-1	no_errors	ENST00000225737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19844226	C	T	19844226	3	4	158	1	0	0	0	0	1	0	0	0	446	835	29	1	865	1	AKAP10	17	19844226	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	9412031	19844226	61350984	156	28180										
C17orf50	146853	genome.wustl.edu	37	chr17	34091481	34091481	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaggagccgtgcgtgctggaGatccggcgacgaccgccgcg	18	13	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:34091481G>T	ENST00000285023.4	+	3	401	c.369G>T	c.(367-369)gaG>gaT	p.E123D	C17orf50_ENST00000586491.1_Missense_Mutation_p.D94Y|C17orf50_ENST00000588628.1_Missense_Mutation_p.D131Y	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	123													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGTGCTGGAGATCCGGCGAC	0.726																																																	0													3	5	4					17																	34091481		1761	3873	5634	SO:0001583	missense	146853			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.369G>T	17.37:g.34091481G>T	ENSP00000285023:p.Glu123Asp		Q6Q621	Missense_Mutation	SNP	NULL	p.E123D	ENST00000285023.4	37	c.369	CCDS42298.1	17	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362822	0.61403	.	.	ENSG00000154768	ENST00000285023	T	0.56275	0.47	4.92	3.94	0.45596	.	0.330330	0.22065	N	0.065115	T	0.55449	0.1921	L	0.27053	0.805	0.27049	N	0.963821	D	0.64830	0.994	D	0.63703	0.917	T	0.49790	-0.8902	10	0.87932	D	0	-27.9992	10.4431	0.44477	0.0:0.0:0.8056:0.1944	.	123	Q8WW18	CQ050_HUMAN	D	123	ENSP00000285023:E123D	ENSP00000285023:E123D	E	+	3	2	C17orf50	31115594	1.000000	0.71417	0.990000	0.47175	0.318000	0.28184	1.820000	0.39032	1.258000	0.44101	0.557000	0.71058	GAG	C17orf50	-	NULL		0.726	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf50	HGNC	protein_coding	OTTHUMT00000449132.1	G	NM_145272		34091481	1	no_errors	ENST00000285023	ensembl	human	known	70_37	missense	SNP	0.929	T	T	34091481	G	T	34091481	3	4	158	1	0	0	0	0	1	0	0	0	1865	933	33	3	379	3	C17orf50	17	34091481	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	14247255	34091481	47103729	157	28181										
NKIRAS2	28511	genome.wustl.edu	37	chr17	40173651	40173651	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggcgtctgtgggcaaaacttCaatcctggagcagcttctgt	12	10	3	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:40173651C>T	ENST00000307641.5	+	2	677	c.56C>T	c.(55-57)tCa>tTa	p.S19L	NKIRAS2_ENST00000393881.3_Missense_Mutation_p.S19L|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.S19L|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.S19L|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.S19L|NKIRAS2_ENST00000462043.2_Missense_Mutation_p.S19L|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.S19L|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.S19L|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.S19L	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	19	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GGCAAAACTTCAATCCTGGAG	0.498																																																	0													202	179	187					17																	40173651		2203	4300	6503	SO:0001583	missense	28511			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"NFKB inhibitor interacting Ras-like protein 2"			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.56C>T	17.37:g.40173651C>T	ENSP00000303580:p.Ser19Leu		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S19L	ENST00000307641.5	37	c.56	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426082	0.83667	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	D;D;D;D;D;D;T;T	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.08;-1.08	5.78	4.79	0.61399	Small GTP-binding protein domain (1);	0.051947	0.85682	D	0.000000	D	0.87341	0.6153	M	0.74647	2.275	0.47276	D	0.999378	B;P;B	0.44877	0.012;0.845;0.096	B;P;B	0.49192	0.01;0.602;0.201	D	0.89115	0.3499	10	0.87932	D	0	-7.452	16.953	0.86250	0.0:0.8722:0.1278:0.0	.	19;19;19	B4DNM3;E9PAZ8;Q9NYR9	.;.;KBRS2_HUMAN	L	19	ENSP00000303580:S19L;ENSP00000377462:S19L;ENSP00000401976:S19L;ENSP00000377458:S19L;ENSP00000377459:S19L;ENSP00000377463:S19L;ENSP00000419929:S19L;ENSP00000312773:S19L	ENSP00000303580:S19L	S	+	2	0	NKIRAS2	37427177	1.000000	0.71417	0.993000	0.49108	0.911000	0.54048	7.754000	0.85163	1.525000	0.49052	0.591000	0.81541	TCA	NKIRAS2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.498	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	HGNC	protein_coding	OTTHUMT00000257457.1	C	NM_017595		40173651	1	no_errors	ENST00000307641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40173651	C	T	40173651	3	4	158	1	0	0	0	0	1	0	0	0	10469	838	29	1	58	1	NKIRAS2	17	40173651	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	6082170	40173651	41021559	158	28182										
EIF4A3	9775	genome.wustl.edu	37	chr17	78115141	78115141	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctggatctgcacagccaactCtcttgtgggagccaagatca	10	12	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr17:78115141C>G	ENST00000269349.3	-	4	570	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	117	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ACAGCCAACTCTCTTGTGGGA	0.398																																																	0													124	116	119					17																	78115141		2203	4300	6503	SO:0001583	missense	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.349G>C	17.37:g.78115141C>G	ENSP00000269349:p.Glu117Gln		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E117Q	ENST00000269349.3	37	c.349	CCDS11767.1	17	.	.	.	.	.	.	.	.	.	.	c	18.68	3.675545	0.67928	.	.	ENSG00000141543	ENST00000269349	T	0.20200	2.09	5.05	5.05	0.67936	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82776	-0.0290	10	0.87932	D	0	.	16.259	0.82532	0.0:1.0:0.0:0.0	.	117	P38919	IF4A3_HUMAN	Q	117	ENSP00000269349:E117Q	ENSP00000269349:E117Q	E	-	1	0	EIF4A3	75729736	1.000000	0.71417	0.381000	0.26106	0.359000	0.29487	7.004000	0.76317	2.507000	0.84556	0.655000	0.94253	GAG	EIF4A3	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.398	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A3	HGNC	protein_coding	OTTHUMT00000437446.1	C	NM_014740		78115141	-1	no_errors	ENST00000269349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78115141	C	G	78115141	3	3	158	1	0	0	0	0	1	0	0	0	5038	922	32	1	922	1	EIF4A3	17	78115141	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	37941490	78115141	3080069	159	28183										
CEP192	55125	genome.wustl.edu	37	chr18	13049779	13049779	+	Missense_Mutation	SNP	C	C	T													0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gatagatttgaaaaatacctCtcctgagcatggtggacgtg							TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr18:13049779C>T	ENST00000325971.8	+	15	2711	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	CEP192_ENST00000430049.2_Missense_Mutation_p.S494F|CEP192_ENST00000506447.1_Missense_Mutation_p.S969F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	373					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAAATACCTCTCCTGAGCAT	0.423																																																	0													91	92	92					18																	13049779		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1118C>T	18.37:g.13049779C>T	ENSP00000317156:p.Ser373Phe		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.S969F	ENST00000325971.8	37	c.2906		18	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642878	0.29246	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.79247	-1.25;-1.25;-1.25	5.29	4.42	0.53409	.	0.730819	0.12869	N	0.432499	T	0.80396	0.4615	M	0.62723	1.935	0.39126	D	0.961754	P;P;P	0.50272	0.487;0.933;0.933	B;B;P	0.52424	0.189;0.36;0.698	T	0.79240	-0.1885	10	0.54805	T	0.06	-13.0161	7.3628	0.26756	0.1765:0.7373:0.0:0.0862	.	494;969;373	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	F	969;373;373;494	ENSP00000427550:S969F;ENSP00000317156:S373F;ENSP00000389190:S494F	ENSP00000317156:S373F	S	+	2	0	CEP192	13039779	0.013000	0.17824	0.307000	0.25127	0.068000	0.16541	1.752000	0.38349	1.381000	0.46364	0.650000	0.86243	TCT	CEP192	-	NULL		0.423	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13049779	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	0.995	T	T	13049779	C	T	13049779	3	4	158	1	0	0	0	0	1	0	0	0	3256	913	32	1	2968	1	CEP192	18	13049779	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		13049779	65027469	160	28184	169	2								
CEP192	55125	genome.wustl.edu	37	chr18	13049781	13049781	+	Missense_Mutation	SNP	C	C	T													0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tagatttgaaaaatacctctCctgagcatggtggacgtggc							TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr18:13049781C>T	ENST00000325971.8	+	15	2713	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	CEP192_ENST00000430049.2_Missense_Mutation_p.P495S|CEP192_ENST00000506447.1_Missense_Mutation_p.P970S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	374					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAATACCTCTCCTGAGCATGG	0.423																																																	0													91	92	92					18																	13049781		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1120C>T	18.37:g.13049781C>T	ENSP00000317156:p.Pro374Ser		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.P970S	ENST00000325971.8	37	c.2908		18	.	.	.	.	.	.	.	.	.	.	C	6.958	0.546605	0.13312	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.78126	-1.15;-1.15;-1.15	5.53	1.68	0.24146	.	0.878785	0.09901	N	0.741058	T	0.64103	0.2568	L	0.38531	1.155	0.37236	D	0.905886	B;B;B	0.31435	0.211;0.211;0.323	B;B;B	0.26770	0.04;0.04;0.073	T	0.54807	-0.8238	10	0.22706	T	0.39	-1.4712	7.5194	0.27618	0.0:0.6146:0.1178:0.2676	.	495;970;374	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	970;374;374;495	ENSP00000427550:P970S;ENSP00000317156:P374S;ENSP00000389190:P495S	ENSP00000317156:P374S	P	+	1	0	CEP192	13039781	0.001000	0.12720	0.232000	0.24009	0.068000	0.16541	0.332000	0.19751	0.382000	0.24878	-0.181000	0.13052	CCT	CEP192	-	NULL		0.423	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13049781	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	0.994	T	T	13049781	C	T	13049781	3	4	158	1	0	0	0	0	1	0	0	0	3256	855	30	1	2970	1	CEP192	18	13049781	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	2	13049781	65027467	161	28185	169	2								
CDH7	1005	genome.wustl.edu	37	chr18	63430284	63430284	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttcagaccccctctatgtagGaaaggtagggtattgtgacc	11	9	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr18:63430284G>C	ENST00000397968.2	+	2	632	c.206G>C	c.(205-207)gGa>gCa	p.G69A	CDH7_ENST00000323011.3_Missense_Mutation_p.G69A|CDH7_ENST00000581601.1_3'UTR|CDH7_ENST00000536984.2_Missense_Mutation_p.G69A	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTCTATGTAGGAAAGGTAGGG	0.408																																																	0													53	51	52					18																	63430284		2203	4299	6502	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.206G>C	18.37:g.63430284G>C	ENSP00000381058:p.Gly69Ala		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G69A	ENST00000397968.2	37	c.206	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270463	0.80469	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.00311	8.15;8.15;8.15	5.45	5.45	0.79879	Cadherin (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.00695	0.0023	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.87578	0.753;0.998	T	0.81420	-0.0941	10	0.72032	D	0.01	.	19.2996	0.94138	0.0:0.0:1.0:0.0	.	69;69	F5H5X9;Q9ULB5	.;CADH7_HUMAN	A	69	ENSP00000319166:G69A;ENSP00000443030:G69A;ENSP00000381058:G69A	ENSP00000319166:G69A	G	+	2	0	CDH7	61581264	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.029000	0.93718	2.555000	0.86185	0.655000	0.94253	GGA	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like		0.408	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63430284	1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63430284	G	C	63430284	3	2	158	1	0	0	0	0	1	0	0	0	3120	1174	41	1	208	1	CDH7	18	63430284	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	50380503	63430284	14646964	162	28186										
LINGO3	645191	genome.wustl.edu	37	chr19	2290031	2290031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgttgaacttgcgcgcgcctCcctggcccgccgcggcggcc	14	18	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:2290031C>T	ENST00000585527.1	-	1	1992	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	LINGO3_ENST00000404279.1_Missense_Mutation_p.G582E			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	582						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GCGCGCGCCTCCCTggcccgc	0.697																																																	0													5	7	6					19																	2290031		1633	3727	5360	SO:0001583	missense	645191			AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1745G>A	19.37:g.2290031C>T	ENSP00000467753:p.Gly582Glu			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G637E	ENST00000585527.1	37	c.1910	CCDS45905.1	19	.	.	.	.	.	.	.	.	.	.	c	14.38	2.518251	0.44763	.	.	ENSG00000220008	ENST00000404279	T	0.55588	0.51	4.33	4.33	0.51752	.	.	.	.	.	T	0.41442	0.1159	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22661	-1.0210	9	0.25106	T	0.35	.	15.8092	0.78543	0.0:1.0:0.0:0.0	.	582	P0C6S8	LIGO3_HUMAN	E	582	ENSP00000384979:G582E	ENSP00000384979:G582E	G	-	2	0	LINGO3	2241031	1.000000	0.71417	0.881000	0.34555	0.689000	0.40095	5.922000	0.70036	1.944000	0.56390	0.561000	0.74099	GGA	LINGO3	-	NULL		0.697	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	LINGO3	HGNC	protein_coding	OTTHUMT00000451291.2	C	NM_001101391		2290031	-1	no_errors	ENST00000585527	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2290031	C	T	2290031	3	4	158	1	0	0	0	0	1	0	0	0	8837	855	30	1	37	1	LINGO3	19	2290031	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		2290031	56838952	163	28187										
RFX2	5990	genome.wustl.edu	37	chr19	6042128	6042128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggatacacgtgctgcaccgGctgcacctgaaacatcggat	11	12	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:6042128G>A	ENST00000303657.5	-	4	336	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	RFX2_ENST00000592546.1_Missense_Mutation_p.P63S|RFX2_ENST00000359161.3_Missense_Mutation_p.P63S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTGCACCGGCTGCACCTGA	0.582																																					Colon(38;171 817 19800 47433 48051)												0													119	86	97					19																	6042128		2203	4300	6503	SO:0001583	missense	5990				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.187C>T	19.37:g.6042128G>A	ENSP00000306335:p.Pro63Ser		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P63S	ENST00000303657.5	37	c.187	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716495	0.30413	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T;T	0.28255	1.62;1.62	4.37	2.2	0.27929	RFX1 transcription activation region (1);	0.768710	0.12733	N	0.443686	T	0.15869	0.0382	L	0.28400	0.85	0.20563	N	0.999885	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.30794	-0.9966	10	0.10902	T	0.67	-14.5705	1.5788	0.02630	0.1845:0.1675:0.475:0.173	.	63;63	P48378-2;P48378	.;RFX2_HUMAN	S	63;63;18	ENSP00000306335:P63S;ENSP00000352076:P63S	ENSP00000306335:P63S	P	-	1	0	RFX2	5993128	0.938000	0.31826	0.714000	0.30535	0.856000	0.48823	-0.023000	0.12456	0.476000	0.27440	0.456000	0.33151	CCG	RFX2	-	pfam_RFX1_trans_act		0.582	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	G	NM_000635		6042128	-1	no_errors	ENST00000303657	ensembl	human	known	70_37	missense	SNP	0.993	A	A	6042128	G	A	6042128	3	1	158	1	0	0	0	0	1	0	0	0	13293	1203	42	4	2044	4	RFX2	19	6042128	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	3752097	6042128	53086855	164	28188										
MUC16	94025	genome.wustl.edu	37	chr19	9060012	9060012	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	caggtgaagacagtgagaaaGaggcagagctggcttcttcc	14	8	1	5			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:9060012G>C	ENST00000397910.4	-	3	27637	c.27434C>G	c.(27433-27435)tCt>tGt	p.S9145C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9147	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGAGAAAGAGGCAGAGCT	0.493																																																	0													74	71	72					19																	9060012		2037	4193	6230	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27434C>G	19.37:g.9060012G>C	ENSP00000381008:p.Ser9145Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S9145C	ENST00000397910.4	37	c.27434	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.119	-0.180853	0.06380	.	.	ENSG00000181143	ENST00000397910	T	0.36520	1.25	2.34	0.162	0.14981	.	.	.	.	.	T	0.37999	0.1024	N	0.24115	0.695	.	.	.	D	0.76494	0.999	D	0.73380	0.98	T	0.44967	-0.9293	8	0.87932	D	0	.	4.5322	0.12011	0.3305:0.0:0.6695:0.0	.	9145	B5ME49	.	C	9145	ENSP00000381008:S9145C	ENSP00000381008:S9145C	S	-	2	0	MUC16	8921012	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.123000	0.10611	0.116000	0.18110	0.298000	0.19748	TCT	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9060012	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	C	C	9060012	G	C	9060012	3	2	158	1	0	0	0	0	1	0	0	0	9996	942	33	1	16417	1	MUC16	19	9060012	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	3017884	9060012	50068971	165	28189										
MUC16	94025	genome.wustl.edu	37	chr19	9071029	9071029	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgtttgaatttggttagtctGagagatattaggagttgatg	13	1	1	4			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:9071029G>C	ENST00000397910.4	-	3	16620	c.16417C>G	c.(16417-16419)Cag>Gag	p.Q5473E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q5473*(2)|p.Q1106*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTAGTCTGAGAGATATTA	0.498																																																	3	Substitution - Nonsense(3)	lung(3)											129	127	127					19																	9071029		2028	4174	6202	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16417C>G	19.37:g.9071029G>C	ENSP00000381008:p.Gln5473Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q5473E	ENST00000397910.4	37	c.16417	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	0.504	-0.869581	0.02570	.	.	ENSG00000181143	ENST00000397910	T	0.09445	2.98	2.06	-4.12	0.03916	.	.	.	.	.	T	0.03053	0.0090	N	0.01576	-0.805	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.39901	-0.9591	8	0.87932	D	0	.	2.827	0.05488	0.148:0.4141:0.3151:0.1228	.	5473	B5ME49	.	E	5473	ENSP00000381008:Q5473E	ENSP00000381008:Q5473E	Q	-	1	0	MUC16	8932029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-1.472000	0.01883	-2.140000	0.00339	CAG	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071029	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9071029	G	C	9071029	3	2	158	1	0	0	0	0	1	0	0	0	9996	1299	45	1	27434	1	MUC16	19	9071029	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	11017	9071029	50057954	166	28190										
JUNB	3726	genome.wustl.edu	37	chr19	12903628	12903628	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggtcaagggacacgccttctGaacgtcccctgcccctttac	9	16	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:12903628G>C	ENST00000302754.4	+	1	1319	c.1043G>C	c.(1042-1044)tGa>tCa	p.*348S		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	0					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CACGCCTTCTGAACGTCCCCT	0.672																																																	0													37	33	34					19																	12903628		2203	4300	6503	SO:0001578	stop_lost	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.1043G>C	19.37:g.12903628G>C	ENSP00000303315:p.*348Serext*159		Q96GH3	Nonstop_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.*348S	ENST00000302754.4	37	c.1043	CCDS12280.1	19	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897016	0.17686	.	.	ENSG00000171223	ENST00000302754	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0435	0.71811	0.0:0.0:1.0:0.0	.	.	.	.	S	348	.	.	X	+	2	2	JUNB	12764628	1.000000	0.71417	0.999000	0.59377	0.523000	0.34469	3.220000	0.51207	1.834000	0.53371	0.448000	0.29417	TGA	JUNB	-	NULL		0.672	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	G	NM_002229		12903628	1	no_errors	ENST00000302754	ensembl	human	known	70_37	nonstop	SNP	1.000	C	C	12903628	G	C	12903628	4	2	158	1	0	0	0	0	0	0	0	0	7990	1285	45	1	1045	1	JUNB	19	12903628	Nonstop_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	3832599	12903628	46225355	167	28191										
DDX39	10212	genome.wustl.edu	37	chr19	14520578	14520578	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ttaaactccagcacatccaaGagatcaaagagcttgcggtt	8	10	1	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:14520578G>C	ENST00000242776.4	-	7	941	c.840C>G	c.(838-840)ctC>ctG	p.L280L	CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	280	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						GCACATCCAAGAGATCAAAGA	0.557																																																	0													87	77	81					19																	14520578		2203	4300	6503	SO:0001819	synonymous_variant	10212			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.840C>G	19.37:g.14520578G>C			Q8N5M0|Q9BVP6|Q9H5W0	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L280	ENST00000242776.4	37	c.840	CCDS12308.1	19																																																																																			DDX39A	-	pfscan_Helicase_C		0.557	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	G	NM_138998		14520578	-1	no_errors	ENST00000242776	ensembl	human	known	70_37	silent	SNP	0.420	C	C	14520578	G	C	14520578	2	2	158	1	0	0	0	0	0	0	0	1	4362	929	33	1		1	DDX39	19	14520578	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	1616950	14520578	44608405	168	28192										
ZNF382	84911	genome.wustl.edu	37	chr19	37117673	37117673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tgcctcagagacctcaaacaGaagagaaaccctttcactgt	7	12	3	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:37117673G>A	ENST00000292928.2	+	5	987	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ZNF382_ENST00000439428.1_Missense_Mutation_p.E291K|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Missense_Mutation_p.E243K|ZNF382_ENST00000435416.1_Missense_Mutation_p.E291K	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	292					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACCTCAAACAGAAGAGAAACC	0.398																																																	0													99	101	101					19																	37117673		2203	4300	6503	SO:0001583	missense	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.874G>A	19.37:g.37117673G>A	ENSP00000292928:p.Glu292Lys		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E292K	ENST00000292928.2	37	c.874	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250160	0.59212	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.52	3.48	0.39840	.	0.162046	0.29383	N	0.012301	T	0.22126	0.0533	L	0.31420	0.93	0.29868	N	0.827033	B;B;B	0.27732	0.187;0.187;0.118	B;B;B	0.25140	0.058;0.058;0.026	T	0.19224	-1.0312	10	0.87932	D	0	.	10.4783	0.44678	0.0967:0.0:0.9033:0.0	.	291;291;292	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	K	243;292;291;291	ENSP00000389722:E243K;ENSP00000292928:E292K;ENSP00000407593:E291K;ENSP00000410113:E291K	ENSP00000292928:E292K	E	+	1	0	ZNF382	41809513	0.980000	0.34600	0.966000	0.40874	0.962000	0.63368	4.262000	0.58847	1.252000	0.44001	0.467000	0.42956	GAA	ZNF382	-	NULL		0.398	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	G	NM_032825		37117673	1	no_errors	ENST00000292928	ensembl	human	known	70_37	missense	SNP	0.996	A	A	37117673	G	A	37117673	3	1	158	1	0	0	0	0	1	0	0	0	17903	943	33	1	884	1	ZNF382	19	37117673	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	22597095	37117673	22011310	169	28193										
ZFP112	7771	genome.wustl.edu	37	chr19	44832961	44832961	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tctgaaggtcctgaaaatgtGaggccagactgaagccatta	11	8	1	5			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:44832961G>C	ENST00000337401.4	-	5	1455	c.1367C>G	c.(1366-1368)tCa>tGa	p.S456*	ZNF112_ENST00000354340.4_Nonsense_Mutation_p.S450*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.S473*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTGAAAATGTGAGGCCAGACT	0.378																																																	0													98	92	94					19																	44832961		2203	4300	6503	SO:0001587	stop_gained	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1367C>G	19.37:g.44832961G>C	ENSP00000337081:p.Ser456*		A4FU53|Q9HCA7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S473*	ENST00000337401.4	37	c.1418	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072333	0.55646	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	4.73	3.69	0.42338	.	0.331959	0.17078	N	0.187910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.2345	8.6303	0.33915	0.1796:0.0:0.8204:0.0	.	.	.	.	X	456;456;450;473;455	.	ENSP00000253426:S455X	S	-	2	0	ZNF285	49524801	0.702000	0.27816	0.030000	0.17652	0.383000	0.30230	2.824000	0.48088	1.343000	0.45638	0.561000	0.74099	TCA	ZFP112	-	pfscan_Znf_C2H2		0.378	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	G	NM_013380		44832961	-1	no_errors	ENST00000536500	ensembl	human	known	70_37	nonsense	SNP	0.005	C	C	44832961	G	C	44832961	4	2	158	1	0	0	0	0	0	1	0	0	17668	1294	45	1	1378	1	ZFP112	19	44832961	Nonsense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	7715288	44832961	14296022	170	28194										
KDELR1	10945	genome.wustl.edu	37	chr19	48894602	48894602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gggagaggtctcccaggaatCggaagagattcatggctggg	17	7	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:48894602C>T	ENST00000330720.2	-	1	208	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	KDELR1_ENST00000597017.1_5'Flank	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	5					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCCCAGGAATCGGAAGAGATT	0.662											OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30	28	28					19																	48894602		2178	4262	6440	SO:0001583	missense	10945			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.14G>A	19.37:g.48894602C>T	ENSP00000329471:p.Arg5Gln	958	B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.R5Q	ENST00000330720.2	37	c.14	CCDS12718.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.838149	0.97009	.	.	ENSG00000105438	ENST00000330720	T	0.52526	0.66	4.22	4.22	0.49857	.	0.275088	0.22950	N	0.053680	T	0.69663	0.3136	H	0.96333	3.805	0.58432	D	0.999997	D	0.67145	0.996	P	0.49752	0.621	T	0.82263	-0.0544	10	0.66056	D	0.02	.	15.9157	0.79517	0.0:1.0:0.0:0.0	.	5	P24390	ERD21_HUMAN	Q	5	ENSP00000329471:R5Q	ENSP00000329471:R5Q	R	-	2	0	KDELR1	53586414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.467000	0.80930	2.363000	0.80096	0.555000	0.69702	CGA	KDELR1	-	prints_ER_ret_rcpt		0.662	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR1	HGNC	protein_coding	OTTHUMT00000465708.1	C			48894602	-1	no_errors	ENST00000330720	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48894602	C	T	48894602	3	4	158	1	0	0	0	0	1	0	0	0	8139	884	31	1	644	1	KDELR1	19	48894602	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	4061641	48894602	10234381	171	28195										
SPHK2	56848	genome.wustl.edu	37	chr19	49132817	49132817	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gctgcgctgctgcgccttttCttggccatggagcgtggtag	15	11	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:49132817C>T	ENST00000245222.4	+	7	2118	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	SPHK2_ENST00000443164.1_Silent_p.F646F|SPHK2_ENST00000599029.1_Silent_p.F548F|SPHK2_ENST00000598088.1_Silent_p.F584F|SPHK2_ENST00000340932.3_Silent_p.F546F|SPHK2_ENST00000600537.1_Silent_p.F525F|SPHK2_ENST00000599748.1_Silent_p.F548F	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	584					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.F584L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCGCCTTTTCTTGGCCATGG	0.701																																																	1	Substitution - Missense(1)	urinary_tract(1)											20	17	18					19																	49132817		2195	4294	6489	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1752C>T	19.37:g.49132817C>T			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.F646	ENST00000245222.4	37	c.1938	CCDS12727.1	19																																																																																			SPHK2	-	NULL		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	C			49132817	1	no_errors	ENST00000443164	ensembl	human	known	70_37	silent	SNP	0.999	T	T	49132817	C	T	49132817	2	4	158	1	0	0	0	0	0	0	0	1	15077	912	32	1		1	SPHK2	19	49132817	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	238215	49132817	9996166	172	28196										
SPHK2	56848	genome.wustl.edu	37	chr19	49132889	49132889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tacgccgcggcccgtgccttCcgcctagagccgctcacacc	10	20	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:49132889C>T	ENST00000245222.4	+	7	2190	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F	SPHK2_ENST00000443164.1_Silent_p.F670F|SPHK2_ENST00000599029.1_Silent_p.F572F|SPHK2_ENST00000598088.1_Silent_p.F608F|SPHK2_ENST00000340932.3_Silent_p.F570F|SPHK2_ENST00000600537.1_Silent_p.F549F|SPHK2_ENST00000599748.1_Silent_p.F572F	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	608					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCGTGCCTTCCGCCTAGAGC	0.677																																																	0													18	16	17					19																	49132889		2198	4295	6493	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1824C>T	19.37:g.49132889C>T			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.F670	ENST00000245222.4	37	c.2010	CCDS12727.1	19																																																																																			SPHK2	-	NULL		0.677	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	C			49132889	1	no_errors	ENST00000443164	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49132889	C	T	49132889	2	4	158	1	0	0	0	0	0	0	0	1	15077	854	30	1		1	SPHK2	19	49132889	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	72	49132889	9996094	173	28197										
PNKP	11284	genome.wustl.edu	37	chr19	50368512	50368512	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cttctcatcttgggacaccaGaggggtgccaggcggagtat	14	10	2	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:50368512G>A	ENST00000322344.3	-	4	479	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000596014.1_Silent_p.L124L|PNKP_ENST00000600573.1_Silent_p.L124L|PNKP_ENST00000600910.1_Silent_p.L124L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	124					dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.L124V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGACACCAGAGGGGTGCCA	0.572								Other BER factors																																									2	Substitution - Missense(2)	lung(2)											70	68	69					19																	50368512		2203	4300	6503	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.370C>T	19.37:g.50368512G>A			Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.L124	ENST00000322344.3	37	c.370	CCDS12783.1	19																																																																																			PNKP	-	tigrfam_PNK_3Pase_met		0.572	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	G	NM_007254		50368512	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	0.158	A	A	50368512	G	A	50368512	2	1	158	1	0	0	0	0	0	0	0	1	12171	933	33	1		1	PNKP	19	50368512	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	1235623	50368512	8760471	174	28198										
ZNF578	147660	genome.wustl.edu	37	chr19	53014094	53014094	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctggaaacaagcctattaaaGatcagcttggattaagcttt	8	7	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr19:53014094G>T	ENST00000421239.2	+	6	704	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCCTATTAAAGATCAGCTTGG	0.418																																																	0													151	152	152					19																	53014094		2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.460G>T	19.37:g.53014094G>T	ENSP00000459216:p.Asp154Tyr		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D154Y	ENST00000421239.2	37	c.460	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	6.697	0.497283	0.12762	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.4	0.237	0.15475	.	.	.	.	.	T	0.42223	0.1193	L	0.37800	1.135	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21861	-1.0233	7	.	.	.	.	4.4291	0.11518	0.7864:0.0:0.2136:0.0	.	154	G3V4F6	.	Y	154	.	.	D	+	1	0	ZNF578	57705906	0.000000	0.05858	0.011000	0.14972	0.215000	0.24574	-0.700000	0.05081	-0.132000	0.11557	0.089000	0.15464	GAT	ZNF578	-	NULL		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	G	NM_152472		53014094	1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.013	T	T	53014094	G	T	53014094	3	4	158	1	0	0	0	0	1	0	0	0	18040	942	33	3	470	3	ZNF578	19	53014094	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2645582	53014094	6114889	175	28199										
SPTLC3	55304	genome.wustl.edu	37	chr20	13074214	13074214	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggtgcaaccataagaatcttCaaacacaacagtgagtatca	7	9	3	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr20:13074214C>G	ENST00000399002.2	+	6	1090	c.816C>G	c.(814-816)ttC>ttG	p.F272L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.F272L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	272					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TAAGAATCTTCAAACACAACA	0.423																																																	0													89	91	91					20																	13074214		2083	4257	6340	SO:0001583	missense	55304			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.816C>G	20.37:g.13074214C>G	ENSP00000381968:p.Phe272Leu		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F272L	ENST00000399002.2	37	c.816	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337646	0.81911	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.91237	-2.81;-2.81	5.19	5.19	0.71726	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	H	0.97896	4.1	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.97388	0.9987	10	0.87932	D	0	-21.1678	12.0647	0.53581	0.0:0.9158:0.0:0.0842	.	272	Q9NUV7	SPTC3_HUMAN	L	272	ENSP00000381968:F272L;ENSP00000367436:F272L	ENSP00000367436:F272L	F	+	3	2	SPTLC3	13022214	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.428000	0.59894	2.582000	0.87167	0.655000	0.94253	TTC	SPTLC3	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	C	NM_018327		13074214	1	no_errors	ENST00000399002	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13074214	C	G	13074214	3	3	158	1	0	0	0	0	1	0	0	0	15155	825	29	1	838	1	SPTLC3	20	13074214	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		13074214	49951306	176	28200										
SNAI1	6615	genome.wustl.edu	37	chr20	48604490	48604490	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggcccacctccagacccactCagatgtcaagaagtaccagt	8	15	2	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr20:48604490C>G	ENST00000244050.2	+	3	753	c.692C>G	c.(691-693)tCa>tGa	p.S231*		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	231	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CAGACCCACTCAGATGTCAAG	0.637																																																	0													139	116	124					20																	48604490		2203	4300	6503	SO:0001587	stop_gained	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.692C>G	20.37:g.48604490C>G	ENSP00000244050:p.Ser231*		B2R842|Q9P113|Q9UBP7|Q9UHH7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S231*	ENST00000244050.2	37	c.692	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.262899	0.95399	.	.	ENSG00000124216	ENST00000244050	.	.	.	4.97	4.97	0.65823	.	0.058631	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.5005	18.6122	0.91290	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000244050:S231X	S	+	2	0	SNAI1	48037897	1.000000	0.71417	0.988000	0.46212	0.738000	0.42128	7.445000	0.80570	2.467000	0.83353	0.462000	0.41574	TCA	SNAI1	-	pfscan_Znf_C2H2		0.637	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1	C			48604490	1	no_errors	ENST00000244050	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	48604490	C	G	48604490	4	3	158	1	0	0	0	0	0	1	0	0	14856	838	29	1	702	1	SNAI1	20	48604490	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	35530276	48604490	14421030	177	28201										
LRRC3	81543	genome.wustl.edu	37	chr21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gcaaactcagcgccaagataCgcctgtcccacaaccccctg	7	18	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672																																																	0													40	42	41					21																	45876948		2203	4300	6503	SO:0001583	missense	81543			AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.421C>T	21.37:g.45876948C>T	ENSP00000291592:p.Arg141Cys		Q0VDJ2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R141C	ENST00000291592.4	37	c.421	CCDS13711.1	21	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163856	0.78226	.	.	ENSG00000160233	ENST00000291592	D	0.90385	-2.66	4.82	4.82	0.62117	.	0.186781	0.46758	D	0.000271	D	0.93344	0.7878	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.63703	0.917	D	0.92710	0.6182	10	0.39692	T	0.17	-60.251	17.9134	0.88942	0.0:1.0:0.0:0.0	.	141	Q9BY71	LRRC3_HUMAN	C	141	ENSP00000291592:R141C	ENSP00000291592:R141C	R	+	1	0	LRRC3	44701376	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	2.397000	0.81536	0.561000	0.74099	CGC	LRRC3	-	NULL		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC3	HGNC	protein_coding	OTTHUMT00000098095.3	C			45876948	1	no_errors	ENST00000291592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45876948	C	T	45876948	3	4	158	1	0	0	0	0	1	0	0	0	9007	536	19	2	423	2	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09		45876948	2252947	178	28202										
SLC19A1	6573	genome.wustl.edu	37	chr21	46935896	46935896	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aggcccttgtcctgcacgctCagtgcctgtgctgccttctc	10	16	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr21:46935896C>T	ENST00000311124.4	-	6	1604	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000485649.2_Silent_p.L444L|SLC19A1_ENST00000468508.1_5'Flank	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	484					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCTGCACGCTCAGTGCCTGTG	0.736																																																	0													9	9	9					21																	46935896		2155	4211	6366	SO:0001819	synonymous_variant	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1452G>A	21.37:g.46935896C>T			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.L484	ENST00000311124.4	37	c.1452	CCDS13725.1	21																																																																																			SLC19A1	-	pirsf_Folate_carrier,tigrfam_Folate_carrier		0.736	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	C			46935896	-1	no_errors	ENST00000311124	ensembl	human	known	70_37	silent	SNP	0.001	T	T	46935896	C	T	46935896	2	4	158	1	0	0	0	0	0	0	0	1	14458	813	29	1		1	SLC19A1	21	46935896	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1058948	46935896	1193999	179	28203										
SLC19A1	6573	genome.wustl.edu	37	chr21	46951727	46951727	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aaggagactcggcccacagtGaccagcagctggcccagcac	12	15	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr21:46951727G>A	ENST00000311124.4	-	3	677	c.525C>T	c.(523-525)gtC>gtT	p.V175V	SLC19A1_ENST00000567670.1_Silent_p.V175V|SLC19A1_ENST00000380010.4_Silent_p.V175V|SLC19A1_ENST00000485649.2_Silent_p.V135V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	175					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GGCCCACAGTGACCAGCAGCT	0.677																																																	0													62	43	49					21																	46951727		2192	4286	6478	SO:0001819	synonymous_variant	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.525C>T	21.37:g.46951727G>A			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.V175	ENST00000311124.4	37	c.525	CCDS13725.1	21																																																																																			SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.677	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	G			46951727	-1	no_errors	ENST00000311124	ensembl	human	known	70_37	silent	SNP	0.993	A	A	46951727	G	A	46951727	2	1	158	1	0	0	0	0	0	0	0	1	14458	1277	45	1		1	SLC19A1	21	46951727	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	15831	46951727	1178168	180	28204										
SLC19A1	6573	genome.wustl.edu	37	chr21	46951839	46951839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gcacgagagagaagatgtagGaggaataggcgatgcgcgcg	18	6	0	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr21:46951839G>C	ENST00000311124.4	-	3	565	c.413C>G	c.(412-414)tCc>tGc	p.S138C	SLC19A1_ENST00000567670.1_Missense_Mutation_p.S138C|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S138C|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S98C	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	138					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GAAGATGTAGGAGGAATAGGC	0.672																																																	0													19	21	20					21																	46951839		2190	4289	6479	SO:0001583	missense	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.413C>G	21.37:g.46951839G>C	ENSP00000308895:p.Ser138Cys		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.S138C	ENST00000311124.4	37	c.413	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447961	0.63178	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95793	0.8631	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.997	D	0.96785	0.9578	10	0.87932	D	0	-59.2487	17.1012	0.86651	0.0:0.0:1.0:0.0	.	98;160;138;138	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	C	138;138;98;138;138	ENSP00000308895:S138C;ENSP00000369347:S138C;ENSP00000441772:S98C;ENSP00000401850:S138C;ENSP00000411345:S138C	ENSP00000308895:S138C	S	-	2	0	SLC19A1	45776267	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	9.327000	0.96396	2.460000	0.83146	0.462000	0.41574	TCC	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.672	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	G			46951839	-1	no_errors	ENST00000311124	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46951839	G	C	46951839	3	2	158	1	0	0	0	0	1	0	0	0	14458	1174	41	1	1378	1	SLC19A1	21	46951839	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	112	46951839	1178056	181	28205										
ZDHHC8	29801	genome.wustl.edu	37	chr22	20127392	20127392	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ctgaaccacgctgaggggctGggagccgcgcacaccaccat	13	15	0	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:20127392G>T	ENST00000334554.7	+	4	675	c.534G>T	c.(532-534)ctG>ctT	p.L178L	ZDHHC8_ENST00000405930.3_Silent_p.L178L|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	178					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CTGAGGGGCTGGGAGCCGCGC	0.602																																																	0													63	55	58					22																	20127392		2203	4299	6502	SO:0001819	synonymous_variant	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.534G>T	22.37:g.20127392G>T			Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.L178	ENST00000334554.7	37	c.534	CCDS13776.1	22																																																																																			ZDHHC8	-	NULL		0.602	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1	G	NM_013373		20127392	1	no_errors	ENST00000405930	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20127392	G	T	20127392	2	4	158	1	0	0	0	0	0	0	0	1	17651	1335	47	4		4	ZDHHC8	22	20127392	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		20127392	31177174	182	28206										
BCR	613	genome.wustl.edu	37	chr22	23523873	23523873	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcggagagcagctgcggcgtCgacggcgactacgaggacgc	17	12	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:23523873C>G	ENST00000305877.8	+	1	1477	c.726C>G	c.(724-726)gtC>gtG	p.V242V	BCR_ENST00000398512.5_Silent_p.V242V|BCR_ENST00000359540.3_Silent_p.V242V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	242	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GCTGCGGCGTCGACGGCGACT	0.677			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													30	34	32					22																	23523873		2194	4273	6467	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.726C>G	22.37:g.23523873C>G			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.V242	ENST00000305877.8	37	c.726	CCDS13806.1	22																																																																																			BCR	-	NULL		0.677	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	C	NM_004327		23523873	1	no_errors	ENST00000305877	ensembl	human	known	70_37	silent	SNP	0.068	G	G	23523873	C	G	23523873	2	3	158	1	0	0	0	0	0	0	0	1	1389	871	31	1		1	BCR	22	23523873	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	3396481	23523873	27780693	183	28207										
MAFF	23764	genome.wustl.edu	37	chr22	38610546	38610546	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gccgaggaggtgacacggctCaagcagcggcgccgcacact	15	14	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:38610546C>G	ENST00000338483.2	+	3	518	c.156C>G	c.(154-156)ctC>ctG	p.L52L	MAFF_ENST00000538320.1_Silent_p.L52L|MAFF_ENST00000426621.2_Silent_p.L52L|MAFF_ENST00000538999.1_Silent_p.L23L|MAFF_ENST00000407965.1_Silent_p.L52L			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	52	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					TGACACGGCTCAAGCAGCGGC	0.677																																																	0													13	15	14					22																	38610546		2196	4292	6488	SO:0001819	synonymous_variant	23764			AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.156C>G	22.37:g.38610546C>G			B4DV49|Q9Y525	Silent	SNP	pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L52	ENST00000338483.2	37	c.156	CCDS13968.1	22																																																																																			MAFF	-	pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.677	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFF	HGNC	protein_coding	OTTHUMT00000321624.1	C	NM_001161572		38610546	1	no_errors	ENST00000338483	ensembl	human	known	70_37	silent	SNP	1.000	G	G	38610546	C	G	38610546	2	3	158	1	0	0	0	0	0	0	0	1	9182	813	29	1		1	MAFF	22	38610546	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	15086673	38610546	12694020	184	28208										
DDX17	10521	genome.wustl.edu	37	chr22	38895463	38895463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ggacaaacatctccccccctCactgtaatctccttctttcg	4	17	4	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:38895463C>T	ENST00000396821.3	-	3	579	c.480G>A	c.(478-480)gtG>gtA	p.V160V	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.V81V	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	160					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CTCCCCCCCTCACTGTAATCT	0.368																																					Ovarian(55;1085 1454 6392 21425)												0													160	147	151					22																	38895463		2203	4300	6503	SO:0001819	synonymous_variant	10521			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.480G>A	22.37:g.38895463C>T			B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V160	ENST00000396821.3	37	c.480	CCDS46706.1	22																																																																																			DDX17	-	NULL		0.368	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	C	NM_030881		38895463	-1	no_errors	ENST00000396821	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38895463	C	T	38895463	2	4	158	1	0	0	0	0	0	0	0	1	4349	813	29	1		1	DDX17	22	38895463	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	284917	38895463	12409103	185	28209										
KLHDC7B	113730	genome.wustl.edu	37	chr22	50988006	50988006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcaggtacagccccgtgaagGatgcttgggacgagtgccca	14	11	1	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:50988006G>A	ENST00000395676.2	+	1	1545	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	471										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCGTGAAGGATGCTTGGGA	0.662																																																	0													70	74	72					22																	50988006		2203	4298	6501	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1411G>A	22.37:g.50988006G>A	ENSP00000379034:p.Asp471Asn			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.D471N	ENST00000395676.2	37	c.1411	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366221	0.82463	.	.	ENSG00000130487	ENST00000395676	T	0.65364	-0.15	5.35	4.33	0.51752	Kelch-type beta propeller (1);	0.000000	0.43260	U	0.000590	T	0.59998	0.2235	L	0.48362	1.52	0.39282	D	0.964588	P	0.40515	0.719	P	0.48304	0.573	T	0.56263	-0.8008	10	0.11182	T	0.66	.	11.916	0.52765	0.0855:0.0:0.9145:0.0	.	471	Q96G42	KLD7B_HUMAN	N	471	ENSP00000379034:D471N	ENSP00000379034:D471N	D	+	1	0	KLHDC7B	49334872	1.000000	0.71417	0.379000	0.26080	0.850000	0.48378	4.637000	0.61346	1.273000	0.44346	0.491000	0.48974	GAT	KLHDC7B	-	smart_Kelch_1		0.662	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50988006	1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.997	A	A	50988006	G	A	50988006	3	1	158	1	0	0	0	0	1	0	0	0	8381	1174	41	1	1413	1	KLHDC7B	22	50988006	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	12092543	50988006	316560	186	28210			2	120		3	3	349	G		2.49132e-06
KLHDC7B	113730	genome.wustl.edu	37	chr22	50988318	50988318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	ccttccccttggggagcaccGgggtcctcagtccattcatc	10	16	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:50988318G>T	ENST00000395676.2	+	1	1857	c.1723G>T	c.(1723-1725)Ggg>Tgg	p.G575W	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	575										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGAGCACCGGGGTCCTCAG	0.632																																																	0													17	15	15					22																	50988318		2195	4292	6487	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1723G>T	22.37:g.50988318G>T	ENSP00000379034:p.Gly575Trp			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.G575W	ENST00000395676.2	37	c.1723	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348107	0.82132	.	.	ENSG00000130487	ENST00000395676	T	0.22336	1.96	5.45	5.45	0.79879	.	0.179711	0.26149	U	0.026057	T	0.49457	0.1558	M	0.78456	2.415	0.46203	D	0.998924	D	0.89917	1.0	D	0.97110	1.0	T	0.51252	-0.8729	10	0.72032	D	0.01	.	16.7632	0.85517	0.0:0.0:1.0:0.0	.	575	Q96G42	KLD7B_HUMAN	W	575	ENSP00000379034:G575W	ENSP00000379034:G575W	G	+	1	0	KLHDC7B	49335184	1.000000	0.71417	0.248000	0.24265	0.006000	0.05464	7.349000	0.79376	2.576000	0.86940	0.491000	0.48974	GGG	KLHDC7B	-	NULL		0.632	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50988318	1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.975	T	T	50988318	G	T	50988318	3	4	158	1	0	0	0	0	1	0	0	0	8381	1116	39	2	1725	2	KLHDC7B	22	50988318	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	312	50988318	316248	187	28211			2	120		3	3	349	G		2.49132e-06
KLHDC7B	113730	genome.wustl.edu	37	chr22	50988354	50988354	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcatcctgactctgccccctGaggaccggctgcagacctca	9	17	3	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chr22:50988354G>A	ENST00000395676.2	+	1	1893	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	587										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGCCCCCTGAGGACCGGCT	0.657																																																	0													13	11	12					22																	50988354		2201	4288	6489	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1759G>A	22.37:g.50988354G>A	ENSP00000379034:p.Glu587Lys			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.E587K	ENST00000395676.2	37	c.1759	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239384	0.22711	.	.	ENSG00000130487	ENST00000395676	T	0.12984	2.63	5.45	-6.45	0.01914	.	0.866994	0.09514	N	0.791946	T	0.01765	0.0056	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41448	-0.9508	10	0.02654	T	1	.	0.7498	0.00988	0.4133:0.1586:0.2045:0.2237	.	587	Q96G42	KLD7B_HUMAN	K	587	ENSP00000379034:E587K	ENSP00000379034:E587K	E	+	1	0	KLHDC7B	49335220	0.000000	0.05858	0.000000	0.03702	0.595000	0.36748	-0.318000	0.08050	-0.500000	0.06614	0.491000	0.48974	GAG	KLHDC7B	-	NULL		0.657	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50988354	1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50988354	G	A	50988354	3	1	158	1	0	0	0	0	1	0	0	0	8381	1291	45	1	1761	1	KLHDC7B	22	50988354	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	36	50988354	316212	188	28212			2	120		3	3	349	G		2.49132e-06
IL3RA	3563	genome.wustl.edu	37	chrX	1471018	1471018	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	aagccttgggcaggtgcggaGaatctgacctgctggattca	14	9	2	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:1471018G>A	ENST00000331035.4	+	5	673	c.324G>A	c.(322-324)gaG>gaA	p.E108E	IL3RA_ENST00000381469.2_Silent_p.E30E	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	108					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.E108D(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGTGCGGAGAATCTGACCT	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											121	139	133					X																	1471018		2201	4294	6495	SO:0001819	synonymous_variant	3563			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.324G>A	X.37:g.1471018G>A			A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.E108	ENST00000331035.4	37	c.324	CCDS14113.1	X																																																																																			IL3RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.607	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	G			1471018	1	no_errors	ENST00000331035	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1471018	G	A	1471018	2	1	158	1	0	0	0	0	0	0	0	1	7715	933	33	1		1	IL3RA	23	1471018	Silent	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09		1471018	153799542	189	28213										
GLRA2	2742	genome.wustl.edu	37	chrX	14550433	14550433	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	accctatctccttcagatttCttggacaagttaatgggaag	8	9	3	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:14550433C>T	ENST00000218075.4	+	2	671	c.141C>T	c.(139-141)ttC>ttT	p.F47F	GLRA2_ENST00000355020.4_Silent_p.F47F|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	47					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CTTCAGATTTCTTGGACAAGT	0.398																																																	0													129	120	123					X																	14550433		2203	4300	6503	SO:0001819	synonymous_variant	2742				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.141C>T	X.37:g.14550433C>T			A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel	p.F47	ENST00000218075.4	37	c.141	CCDS14160.1	X																																																																																			GLRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel		0.398	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1	C			14550433	1	no_errors	ENST00000218075	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14550433	C	T	14550433	2	4	158	1	0	0	0	0	0	0	0	1	6474	912	32	1		1	GLRA2	23	14550433	Silent	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	13079415	14550433	140720127	190	28214										
PHKA2	5256	genome.wustl.edu	37	chrX	18919625	18919625	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gtttcatttcactcctcagtCtgttaatgccactcctctca	4	14	5	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:18919625C>G	ENST00000379942.4	-	27	3670	c.3005G>C	c.(3004-3006)aGa>aCa	p.R1002T		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1002					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTCCTCAGTCTGTTAATGCC	0.552																																																	0													206	153	171					X																	18919625		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3005G>C	X.37:g.18919625C>G	ENSP00000369274:p.Arg1002Thr		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R1002T	ENST00000379942.4	37	c.3005	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627596	0.46944	.	.	ENSG00000044446	ENST00000379942	D	0.90732	-2.72	6.06	5.19	0.71726	.	0.041854	0.85682	D	0.000000	D	0.83566	0.5282	L	0.37630	1.12	0.30875	N	0.732048	P	0.38048	0.616	B	0.35278	0.199	T	0.82694	-0.0330	10	0.52906	T	0.07	-21.1675	6.3036	0.21127	0.1591:0.6884:0.0:0.1525	.	1002	P46019	KPB2_HUMAN	T	1002	ENSP00000369274:R1002T	ENSP00000369274:R1002T	R	-	2	0	PHKA2	18829546	1.000000	0.71417	0.791000	0.31998	0.997000	0.91878	1.955000	0.40372	1.299000	0.44798	0.600000	0.82982	AGA	PHKA2	-	NULL		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18919625	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	0.794	G	G	18919625	C	G	18919625	3	3	158	1	0	0	0	0	1	0	0	0	11868	913	32	1	730	1	PHKA2	23	18919625	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	4369192	18919625	136350935	191	28215										
MAP7D2	256714	genome.wustl.edu	37	chrX	20074858	20074858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cgaatacttctttttcagctCcagctgctgtgtgcgctcca	8	13	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:20074858C>G	ENST00000379651.3	-	4	442	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	MAP7D2_ENST00000543767.1_Missense_Mutation_p.E13Q|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E142Q|MAP7D2_ENST00000452324.3_Missense_Mutation_p.E98Q|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E142Q	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	142					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TTTTTCAGCTCCAGCTGCTGT	0.562																																																	0													118	82	95					X																	20074858		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.424G>C	X.37:g.20074858C>G	ENSP00000368972:p.Glu142Gln		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.E142Q	ENST00000379651.3	37	c.424	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482885	0.44147	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000010	T	0.24547	0.0595	L	0.39397	1.21	0.46609	D	0.999126	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.963;0.983;0.983;0.999;0.963;0.983	T	0.01472	-1.1346	10	0.27082	T	0.32	-26.559	17.2777	0.87120	0.0:1.0:0.0:0.0	.	142;98;142;142;142;13	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	Q	142;142;13;142;98;142	ENSP00000368972:E142Q;ENSP00000368964:E142Q;ENSP00000440691:E13Q;ENSP00000388239:E142Q;ENSP00000413301:E98Q	ENSP00000332677:E142Q	E	-	1	0	MAP7D2	19984779	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	6.395000	0.73228	2.349000	0.79799	0.506000	0.49869	GAG	MAP7D2	-	NULL		0.562	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20074858	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20074858	C	G	20074858	3	3	158	1	0	0	0	0	1	0	0	0	9291	864	30	1	1949	1	MAP7D2	23	20074858	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	1155233	20074858	135195702	192	28216										
NR0B1	190	genome.wustl.edu	37	chrX	30327072	30327072	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gccctgccgcgggtggtcttCaccacaaaagcagcagcggt	13	14	2	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:30327072C>T	ENST00000378970.4	-	1	643	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	NR0B1_ENST00000453287.1_Missense_Mutation_p.E137K|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	137	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGGTGGTCTTCACCACAAAAG	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22	22	22					X																	30327072		2201	4293	6494	SO:0001583	missense	190			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.409G>A	X.37:g.30327072C>T	ENSP00000368253:p.Glu137Lys	816	Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.E137K	ENST00000378970.4	37	c.409	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440964	0.43326	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97642	-3.6;-4.47	3.96	3.09	0.35607	.	0.176969	0.27473	N	0.019215	D	0.94857	0.8338	L	0.57536	1.79	0.31802	N	0.628244	B	0.24426	0.103	B	0.25614	0.062	D	0.93930	0.7213	10	0.49607	T	0.09	-8.2607	10.4704	0.44633	0.0:0.8056:0.1944:0.0	.	137	P51843	NR0B1_HUMAN	K	137	ENSP00000368253:E137K;ENSP00000396403:E137K	ENSP00000368253:E137K	E	-	1	0	NR0B1	30236993	0.725000	0.28048	0.663000	0.29738	0.958000	0.62258	1.339000	0.33885	1.008000	0.39264	0.513000	0.50165	GAA	NR0B1	-	NULL		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	C	NM_000475		30327072	-1	no_errors	ENST00000378970	ensembl	human	known	70_37	missense	SNP	0.850	T	T	30327072	C	T	30327072	3	4	158	1	0	0	0	0	1	0	0	0	10637	835	29	1	1011	1	NR0B1	23	30327072	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	10252214	30327072	124943488	193	28217										
ZXDB	158586	genome.wustl.edu	37	chrX	57620102	57620102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	actccaagaaacacctgcagGatgtggacacttggaaaagc	10	10	0	1			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:57620102G>A	ENST00000374888.1	+	1	1834	c.1621G>A	c.(1621-1623)Gat>Aat	p.D541N		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	541	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ACACCTGCAGGATGTGGACAC	0.512																																																	0													28	27	27					X																	57620102		2202	4277	6479	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1621G>A	X.37:g.57620102G>A	ENSP00000364023:p.Asp541Asn		A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D541N	ENST00000374888.1	37	c.1621	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	19.73	3.881873	0.72294	.	.	ENSG00000198455	ENST00000374888	T	0.38077	1.16	3.5	3.5	0.40072	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.53671	1.685	0.80722	D	1	D	0.59357	0.985	P	0.55999	0.789	T	0.51132	-0.8744	10	0.87932	D	0	.	12.0103	0.53282	0.0:0.0:1.0:0.0	.	541	P98169	ZXDB_HUMAN	N	541	ENSP00000364023:D541N	ENSP00000364023:D541N	D	+	1	0	ZXDB	57636827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.704000	0.91351	1.762000	0.52044	0.483000	0.47432	GAT	ZXDB	-	pfscan_Znf_C2H2		0.512	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	G	NM_007157		57620102	1	no_errors	ENST00000374888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57620102	G	A	57620102	3	1	158	1	0	0	0	0	1	0	0	0	18281	1174	41	1	1623	1	ZXDB	23	57620102	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	27293030	57620102	97650458	194	28218										
H2BFWT	158983	genome.wustl.edu	37	chrX	103267770	103267770	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	agccttcgtgccttcggactCggcgagcttgcccatctgcc	11	16	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:103267770C>G	ENST00000217926.5	-	1	489	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	155						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E155*(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CCTTCGGACTCGGCGAGCTTG	0.662																																																	1	Substitution - Nonsense(1)	breast(1)											33	33	33					X																	103267770		2200	4296	6496	SO:0001583	missense	158983			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.463G>C	X.37:g.103267770C>G	ENSP00000354723:p.Glu155Gln		B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E155Q	ENST00000217926.5	37	c.463	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030678	0.54790	.	.	ENSG00000123569	ENST00000217926	T	0.21543	2.0	2.84	-0.0968	0.13635	Histone-fold (2);	0.659413	0.09928	U	0.737553	T	0.11580	0.0282	N	0.24115	0.695	0.21445	N	0.999683	B	0.24132	0.098	B	0.19148	0.024	T	0.30707	-0.9969	10	0.62326	D	0.03	.	2.481	0.04587	0.1878:0.51:0.181:0.1212	.	155	Q7Z2G1	H2BWT_HUMAN	Q	155	ENSP00000354723:E155Q	ENSP00000354723:E155Q	E	-	1	0	H2BFWT	103154426	0.972000	0.33761	0.000000	0.03702	0.000000	0.00434	2.059000	0.41384	-0.136000	0.11475	-0.229000	0.12294	GAG	H2BFWT	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.662	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	C	NM_001002916		103267770	-1	no_errors	ENST00000217926	ensembl	human	known	70_37	missense	SNP	0.996	G	G	103267770	C	G	103267770	3	3	158	1	0	0	0	0	1	0	0	0	6952	893	31	1	72	1	H2BFWT	23	103267770	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	45647668	103267770	52002790	195	28219										
KCNE1L	23630	genome.wustl.edu	37	chrX	108867844	108867844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gacccgctcagcgccctgggCgagggcaggcagcccctcgg	16	17	1	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:108867844C>T	ENST00000372101.2	-	1	549	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	136					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCGCCCTGGGCGAGGGCAGGC	0.746																																																	0													4	4	4					X																	108867844		1819	3537	5356	SO:0001583	missense	23630			AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.406G>A	X.37:g.108867844C>T	ENSP00000361173:p.Ala136Thr			Missense_Mutation	SNP	NULL	p.A136T	ENST00000372101.2	37	c.406	CCDS14547.1	X	.	.	.	.	.	.	.	.	.	.	c	12.34	1.907145	0.33628	.	.	ENSG00000176076	ENST00000372101	T	0.74315	-0.83	4.31	-3.53	0.04667	.	0.770020	0.11032	N	0.607099	T	0.52075	0.1712	L	0.27053	0.805	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28522	-1.0041	10	0.41790	T	0.15	-1.8385	1.8647	0.03195	0.1327:0.2004:0.3889:0.278	.	136	Q9UJ90	KCE1L_HUMAN	T	136	ENSP00000361173:A136T	ENSP00000361173:A136T	A	-	1	0	KCNE1L	108754500	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-1.293000	0.02770	-1.064000	0.03172	-0.195000	0.12781	GCC	KCNE1L	-	NULL		0.746	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE1L	HGNC	protein_coding	OTTHUMT00000057892.1	C	NM_012282		108867844	-1	no_errors	ENST00000372101	ensembl	human	known	70_37	missense	SNP	0.000	T	T	108867844	C	T	108867844	3	4	158	1	0	0	0	0	1	0	0	0	8042	768	27	2	26	2	KCNE1L	23	108867844	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	5600074	108867844	46402716	196	28220										
TRPC5	7224	genome.wustl.edu	37	chrX	111078180	111078180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gataggagttgttcatcataGcaatcagcatgttcagcagc	10	8	4	0			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:111078180G>A	ENST00000262839.2	-	7	2783	c.1865C>T	c.(1864-1866)gCt>gTt	p.A622V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	622					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCATCATAGCAATCAGCAT	0.448																																																	0													271	217	235					X																	111078180		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1865C>T	X.37:g.111078180G>A	ENSP00000262839:p.Ala622Val		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A622V	ENST00000262839.2	37	c.1865	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984200	0.93044	.	.	ENSG00000072315	ENST00000262839	D	0.99232	-5.6	5.67	4.8	0.61643	Ion transport (1);	0.049197	0.85682	D	0.000000	D	0.99533	0.9833	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.98	D	0.98036	1.0379	10	0.87932	D	0	-11.586	15.6406	0.76997	0.0:0.1341:0.8659:0.0	.	623;622	Q59G51;Q9UL62	.;TRPC5_HUMAN	V	622	ENSP00000262839:A622V	ENSP00000262839:A622V	A	-	2	0	TRPC5	110964836	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.810000	0.99221	1.125000	0.41998	0.544000	0.68410	GCT	TRPC5	-	pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel		0.448	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	G	NM_012471		111078180	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111078180	G	A	111078180	3	1	158	1	0	0	0	0	1	0	0	0	16613	971	34	4	1076	4	TRPC5	23	111078180	Missense_Mutation	SNP	G	TCGA-JW-A5VJ-01A-11D-A28B-09	2210336	111078180	44192380	197	28221										
ODZ1	10178	genome.wustl.edu	37	chrX	124097521	124097521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	tcttccatcttcactctcatCagaagaactggtgtaagcta	6	11	5	2			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:124097521C>T	ENST00000371130.3	-	1	145	c.82G>A	c.(82-84)Gat>Aat	p.D28N	TENM1_ENST00000422452.2_Missense_Mutation_p.D28N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	28	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCACTCTCATCAGAAGAACTG	0.453																																																	0													293	261	272					X																	124097521		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.82G>A	X.37:g.124097521C>T	ENSP00000360171:p.Asp28Asn		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.D28N	ENST00000371130.3	37	c.82	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424573	0.83667	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.28895	1.59;1.59	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.42017	0.1184	L	0.36672	1.1	0.58432	D	0.999997	P;P;D	0.53619	0.899;0.899;0.961	P;P;P	0.55749	0.677;0.677;0.783	T	0.09618	-1.0666	10	0.41790	T	0.15	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	28;28;28	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	28	ENSP00000360171:D28N;ENSP00000403954:D28N	ENSP00000360171:D28N	D	-	1	0	ODZ1	123925202	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	7.221000	0.78016	2.417000	0.82017	0.600000	0.82982	GAT	TENM1	-	pfam_Ten_N		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		124097521	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124097521	C	T	124097521	3	4	158	1	0	0	0	0	1	0	0	0	10858	826	29	1	8244	1	ODZ1	23	124097521	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	13019341	124097521	31173039	198	28222										
MAP7D3	79649	genome.wustl.edu	37	chrX	135328486	135328486	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	cctcctttccttagcaatctCgtttgctgcagcaactaaaa	5	13	1	0	rs371629235		TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:135328486C>G	ENST00000316077.9	-	2	305	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	MAP7D3_ENST00000370663.5_Missense_Mutation_p.E11Q|MAP7D3_ENST00000370661.1_Missense_Mutation_p.E29Q	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	29					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTAGCAATCTCGTTTGCTGCA	0.388																																																	0													68	62	64					X																	135328486		2022	4167	6189	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.85G>C	X.37:g.135328486C>G	ENSP00000318086:p.Glu29Gln		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.E11Q	ENST00000316077.9	37	c.31	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198923	0.22121	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.64618	2.12;-0.11;-0.11;2.13	5.46	3.7	0.42460	.	0.256941	0.20517	N	0.090779	T	0.34019	0.0883	N	0.03608	-0.345	0.09310	N	1	P;P;P;P	0.40794	0.55;0.537;0.609;0.729	B;B;B;B	0.34652	0.067;0.131;0.091;0.187	T	0.10683	-1.0619	10	0.35671	T	0.21	-14.9463	10.3567	0.43969	0.0:0.7919:0.1322:0.0759	.	11;29;29;29	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	Q	29;29;11;29	ENSP00000359695:E29Q;ENSP00000318086:E29Q;ENSP00000359697:E11Q;ENSP00000359694:E29Q	ENSP00000318086:E29Q	E	-	1	0	MAP7D3	135156152	0.158000	0.22850	0.000000	0.03702	0.000000	0.00434	1.664000	0.37439	0.593000	0.29745	-0.209000	0.12711	GAG	MAP7D3	-	NULL		0.388	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	C			135328486	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.013	G	G	135328486	C	G	135328486	3	3	158	1	0	0	0	0	1	0	0	0	9292	893	31	1	2613	1	MAP7D3	23	135328486	Missense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	11230965	135328486	19942074	199	28223										
MAGEA11	4110	genome.wustl.edu	37	chrX	148794829	148794829	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.582914572864322	116	2.22665427029946e-46	4.18865361430439	5.02718676122931	3.82640729483283	6.89772936911616e-05	0.000704294472425545	88	gaatctgagggatggagactCagttccgcagagggggtctg	17	7	3	3			TCGA-JW-A5VJ-01A-11D-A28B-09	TCGA-JW-A5VJ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f4516f0-ef3b-4f1a-881c-a1289520ada8	19f2afb8-2dd8-4f73-bd4d-571cf4a16341	g.chrX:148794829C>T	ENST00000355220.5	+	2	112	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGGAGACTCAGTTCCGCAG	0.592																																																	0													78	67	71					X																	148794829		2203	4300	6503	SO:0001587	stop_gained	4110				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.10C>T	X.37:g.148794829C>T	ENSP00000347358:p.Gln4*		Q5ETU4|Q6ZRZ5	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q4*	ENST00000355220.5	37	c.10	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	12.16	1.853374	0.32791	.	.	ENSG00000185247	ENST00000355220	.	.	.	1.23	0.331	0.15933	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.4082	0.07348	0.0:0.7091:0.0:0.2909	.	.	.	.	X	4	.	ENSP00000347358:Q4X	Q	+	1	0	MAGEA11	148579576	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.734000	0.04893	0.046000	0.15833	-0.260000	0.10688	CAG	MAGEA11	-	NULL		0.592	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	HGNC	protein_coding	OTTHUMT00000058725.4	C	NM_005366		148794829	1	no_errors	ENST00000355220	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	148794829	C	T	148794829	4	4	158	1	0	0	0	0	0	1	0	0	9188	827	29	1	25	1	MAGEA11	23	148794829	Nonsense_Mutation	SNP	C	TCGA-JW-A5VJ-01A-11D-A28B-09	13466343	148794829	6475731	200	28224										
PER3	8863	genome.wustl.edu	37	chr1	7897139	7897139	+	Frame_Shift_Del	DEL	A	A	-													0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gccccagttttctcatgggcAaaaggaggagctggctaagg							TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:7897139delA	ENST00000361923.2	+	20	3627	c.3452delA	c.(3451-3453)caafs	p.Q1151fs	PER3_ENST00000377532.3_Frame_Shift_Del_p.Q1160fs	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1151	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCATGGGCAAAAGGAGGAG	0.408																																																	0													67	64	65					1																	7897139		2203	4300	6503	SO:0001589	frameshift_variant	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3452delA	1.37:g.7897139delA	ENSP00000355031:p.Gln1151fs		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Frame_Shift_Del	DEL	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.K1152fs	ENST00000361923.2	37	c.3452	CCDS89.1	1																																																																																			PER3	-	pfam_Period_circadian-like_C		0.408	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	A	NM_016831		7897139	1	no_errors	ENST00000361923	ensembl	human	known	70_37	frame_shift_del	DEL	0.998	-	-	7897139	A	-	7897139	7	5	159	1	0	1	0	1	0	0	0	0	11755	130	5	0	3530	0	PER3	1	7897139	Frame_Shift_Del	DEL	A	TCGA-JW-A5VK-01A-11D-A28B-09		7897139	241353482	1	28225										
UBR4	23352	genome.wustl.edu	37	chr1	19480331	19480331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ggtttcaccataactaccagCggcacccctgtagtttgctg	9	13	1	0	rs373836724		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:19480331C>T	ENST00000375254.3	-	45	6588	c.6561G>A	c.(6559-6561)ccG>ccA	p.P2187P	UBR4_ENST00000375226.2_Silent_p.P2187P|UBR4_ENST00000375217.2_Silent_p.P2187P|UBR4_ENST00000375267.2_Silent_p.P2187P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2187					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAACTACCAGCGGCACCCCTG	0.488																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	111	108	109		6561	-7.3	0.7	1		109	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		2187/5184	19480331	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6561G>A	1.37:g.19480331C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P2187	ENST00000375254.3	37	c.6561	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19480331	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	0.490	T	T	19480331	C	T	19480331	2	4	159	1	0	0	0	0	0	0	0	1	16935	755	27	2		2	UBR4	1	19480331	Silent	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	11583192	19480331	229770290	2	28226										
PTAFR	5724	genome.wustl.edu	37	chr1	28476617	28476617	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gcgcatgctgtagaacttttCggtgaggtgcttgcggaact	14	8	0	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:28476617C>A	ENST00000373857.3	-	2	1550	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E306*|PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E306*	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	306					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.E306K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAACTTTTCGGTGAGGTGC	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											117	115	116					1																	28476617		2203	4300	6503	SO:0001587	stop_gained	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.916G>T	1.37:g.28476617C>A	ENSP00000362965:p.Glu306*		A3KMC8|A8K2H5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.E306*	ENST00000373857.3	37	c.916	CCDS318.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.077407	0.98048	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	.	.	.	5.38	4.46	0.54185	.	0.460694	0.24587	N	0.037254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.877	0.79173	0.0:0.7448:0.2552:0.0	.	.	.	.	X	306	.	ENSP00000301974:E306X	E	-	1	0	PTAFR	28349204	0.518000	0.26234	0.106000	0.21319	0.388000	0.30384	1.769000	0.38522	1.262000	0.44165	0.563000	0.77884	GAA	PTAFR	-	prints_PAF_rcpt		0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTAFR	HGNC	protein_coding	OTTHUMT00000011258.1	C	NM_000952		28476617	-1	no_errors	ENST00000305392	ensembl	human	known	70_37	nonsense	SNP	0.523	A	A	28476617	C	A	28476617	4	1	159	1	0	0	0	0	0	1	0	0	12750	893	31	3	116	3	PTAFR	1	28476617	Nonsense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	8996286	28476617	220774004	3	28227										
ADAR	103	genome.wustl.edu	37	chr1	154574963	154574963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ttccaatcaccggtgcttctGggagctgccccttgagaaat	10	12	2	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:154574963G>A	ENST00000368474.4	-	2	354	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P95L|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	52					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGGTGCTTCTGGGAGCTGCCC	0.562																																																	0													57	54	55					1																	154574963		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.155C>T	1.37:g.154574963G>A	ENSP00000357459:p.Pro52Leu		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.P95L	ENST00000368474.4	37	c.284	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527534	0.44969	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11930	2.73;2.75;2.75	4.56	3.64	0.41730	.	1.472720	0.03602	N	0.233601	T	0.06280	0.0162	L	0.34521	1.04	0.26162	N	0.979982	P;B;B;P	0.50066	0.639;0.011;0.005;0.931	B;B;B;B	0.41571	0.155;0.009;0.006;0.36	T	0.13415	-1.0510	10	0.45353	T	0.12	-2.2191	11.378	0.49739	0.0909:0.0:0.9091:0.0	.	52;52;52;52	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	L	95;52;47	ENSP00000292205:P95L;ENSP00000357459:P52L;ENSP00000431794:P47L	ENSP00000292205:P95L	P	-	2	0	ADAR	152841587	0.025000	0.19082	0.384000	0.26145	0.034000	0.12701	2.072000	0.41510	2.509000	0.84616	0.561000	0.74099	CCA	ADAR	-	NULL		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	G	NM_001111		154574963	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	missense	SNP	0.268	A	A	154574963	G	A	154574963	3	1	159	1	0	0	0	0	1	0	0	0	281	1348	47	4	3581	4	ADAR	1	154574963	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	126098346	154574963	94675658	4	28228										
PEAR1	375033	genome.wustl.edu	37	chr1	156883832	156883832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tctgggacagccagaggcggCggcaaccccagccacagaga	14	14	1	2	rs528435112		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:156883832C>T	ENST00000338302.3	+	23	3127	c.2902C>T	c.(2902-2904)Cgg>Tgg	p.R968W	PEAR1_ENST00000292357.7_Missense_Mutation_p.R968W			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	968	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGAGGCGGCGGCAACCCCA	0.662													C|||	1	0.000199681	0	0	5008	,	,		15296	0		0	False		,,,				2504	0.001																0													15	21	19					1																	156883832		2203	4298	6501	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2902C>T	1.37:g.156883832C>T	ENSP00000344465:p.Arg968Trp		Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R968W	ENST00000338302.3	37	c.2902	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	4.973	0.180650	0.09443	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.89123	-2.47;-2.47	5.28	4.33	0.51752	.	0.983138	0.08275	N	0.970819	T	0.69708	0.3141	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.63440	-0.6637	10	0.46703	T	0.11	.	8.9971	0.36059	0.0:0.8904:0.0:0.1096	.	968	Q5VY43	PEAR1_HUMAN	W	968	ENSP00000344465:R968W;ENSP00000292357:R968W	ENSP00000292357:R968W	R	+	1	2	PEAR1	155150456	0.006000	0.16342	0.185000	0.23176	0.019000	0.09904	1.461000	0.35255	1.133000	0.42147	-0.345000	0.07892	CGG	PEAR1	-	NULL		0.662	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	C	NM_001080471		156883832	1	no_errors	ENST00000292357	ensembl	human	known	70_37	missense	SNP	0.015	T	T	156883832	C	T	156883832	3	4	159	1	0	0	0	0	1	0	0	0	11736	759	27	2	2984	2	PEAR1	1	156883832	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	2308869	156883832	92366789	5	28229										
INTS7	25896	genome.wustl.edu	37	chr1	212156143	212156143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	cagaagatctgggagaagaaCtcacatttcctaaaaaagca	8	8	2	4			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:212156143C>T	ENST00000366994.3	-	9	1111	c.1007G>A	c.(1006-1008)aGt>aAt	p.S336N	INTS7_ENST00000366992.3_Missense_Mutation_p.S336N|INTS7_ENST00000366993.3_Missense_Mutation_p.S336N|INTS7_ENST00000440600.2_Missense_Mutation_p.S287N|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	336					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGGAGAAGAACTCACATTTCC	0.348																																																	0													72	69	70					1																	212156143		2203	4300	6503	SO:0001583	missense	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1007G>A	1.37:g.212156143C>T	ENSP00000355961:p.Ser336Asn		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S336N	ENST00000366994.3	37	c.1007	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682938	0.29872	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.84	3.85	0.44370	Armadillo-type fold (1);	0.538319	0.21634	N	0.071425	T	0.07773	0.0195	N	0.01352	-0.895	0.28211	N	0.926929	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.18263	0.021;0.021;0.021;0.017	T	0.29150	-1.0021	10	0.13470	T	0.59	-11.6424	8.3708	0.32415	0.1458:0.5772:0.277:0.0	.	287;336;336;336	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	N	336;336;336;287	ENSP00000355961:S336N;ENSP00000355960:S336N;ENSP00000355959:S336N;ENSP00000388908:S287N	ENSP00000355959:S336N	S	-	2	0	INTS7	210222766	0.939000	0.31865	0.999000	0.59377	0.948000	0.59901	1.747000	0.38298	2.765000	0.95021	0.655000	0.94253	AGT	INTS7	-	superfamily_ARM-type_fold		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212156143	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	missense	SNP	0.990	T	T	212156143	C	T	212156143	3	4	159	1	0	0	0	0	1	0	0	0	7803	565	20	4	1929	4	INTS7	1	212156143	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	55272311	212156143	37094478	6	28230										
OR2T8	343172	genome.wustl.edu	37	chr1	248084909	248084909	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ttcagtcttcgaaaacgccaTgtacatctgctgtgtgttaa	8	9	3	0	rs34508376	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:248084909T>G	ENST00000319968.4	+	1	590	c.590T>G	c.(589-591)aTg>aGg	p.M197R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	197			M -> R (in dbSNP:rs4474294).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAACGCCATGTACATCTGC	0.527													T|||	1511	0.301717	0.1029	0.4337	5008	,	,		14434	0.2778		0.4652	False		,,,				2504	0.3333																0													4	3	4					1																	248084909		1815	3480	5295	SO:0001583	missense	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.590T>G	1.37:g.248084909T>G	ENSP00000326225:p.Met197Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M197R	ENST00000319968.4	37	c.590	CCDS31100.1	1	1010	0.4624542124542125	65	0.13211382113821138	233	0.643646408839779	209	0.36538461538461536	503	0.6635883905013192	T	14.19	2.460615	0.43736	.	.	ENSG00000177462	ENST00000319968	T	0.00130	8.69	3.56	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	D	0.57899	0.981	D	0.65987	0.94	T	0.13255	-1.0516	9	0.72032	D	0.01	.	4.6079	0.12387	0.1689:0.1007:0.0:0.7304	rs34508376	197	A6NH00	OR2T8_HUMAN	R	197	ENSP00000326225:M197R	ENSP00000326225:M197R	M	+	2	0	OR2T8	246151532	0.000000	0.05858	0.009000	0.14445	0.396000	0.30629	-0.130000	0.10498	0.012000	0.14892	0.332000	0.21555	ATG	OR2T8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	T	NM_001005522		248084909	1	no_errors	ENST00000319968	ensembl	human	known	70_37	missense	SNP	0.000	G	G	248084909	T	G	248084909	3	3	159	1	0	0	0	0	1	0	0	0	11054	1464	51	5	592	5	OR2T8	1	248084909	Missense_Mutation	SNP	T	TCGA-JW-A5VK-01A-11D-A28B-09	35928766	248084909	1165712	7	28231										
ERLEC1	27248	genome.wustl.edu	37	chr2	54014459	54014459	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gccgagcccttcctcaactcAgcgatgacatccctttccga	7	17	2	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:54014459A>C	ENST00000185150.4	+	1	243	c.112A>C	c.(112-114)Agc>Cgc	p.S38R	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_5'Flank|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|GPR75-ASB3_ENST00000263634.3_5'Flank|ERLEC1_ENST00000378239.5_Missense_Mutation_p.S38R|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.S38R	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	38					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCCTCAACTCAGCGATGACAT	0.677																																																	0													60	69	66					2																	54014459		2203	4300	6503	SO:0001583	missense	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.112A>C	2.37:g.54014459A>C	ENSP00000185150:p.Ser38Arg		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.S38R	ENST00000185150.4	37	c.112	CCDS1848.1	2	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430083	0.62844	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.45276	0.9;0.91	4.51	4.51	0.55191	.	0.164879	0.52532	D	0.000075	T	0.33614	0.0869	.	.	.	0.58432	D	0.999999	B;B;B	0.16166	0.016;0.016;0.006	B;B;B	0.14023	0.01;0.006;0.003	T	0.10337	-1.0634	9	0.33141	T	0.24	-10.3273	13.6589	0.62354	1.0:0.0:0.0:0.0	.	38;38;38	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	R	38	ENSP00000385629:S38R;ENSP00000185150:S38R	ENSP00000185150:S38R	S	+	1	0	ERLEC1	53867963	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.507000	0.73717	1.879000	0.54435	0.459000	0.35465	AGC	ERLEC1	-	NULL		0.677	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	A	NM_015701		54014459	1	no_errors	ENST00000185150	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54014459	A	C	54014459	3	2	159	1	0	0	0	0	1	0	0	0	5243	188	7	5	114	5	ERLEC1	2	54014459	Missense_Mutation	SNP	A	TCGA-JW-A5VK-01A-11D-A28B-09		54014459	189184914	8	28232										
ITGA4	3676	genome.wustl.edu	37	chr2	182347104	182347104	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	caggcatatatattcagcatTgatgaaaaagaactaaatat	6	5	1	3			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:182347104T>A	ENST00000397033.2	+	8	1288	c.858T>A	c.(856-858)atT>atA	p.I286I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	286					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATTCAGCATTGATGAAAAAG	0.308																																																	0													73	68	70					2																	182347104		1801	4075	5876	SO:0001819	synonymous_variant	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.858T>A	2.37:g.182347104T>A			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.I286	ENST00000397033.2	37	c.858	CCDS42788.1	2																																																																																			ITGA4	-	smart_Int_alpha_beta-p		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	T			182347104	1	no_errors	ENST00000397033	ensembl	human	known	70_37	silent	SNP	0.607	A	A	182347104	T	A	182347104	2	1	159	1	0	0	0	0	0	0	0	1	7898	1800	63	5		5	ITGA4	2	182347104	Silent	SNP	T	TCGA-JW-A5VK-01A-11D-A28B-09	128332645	182347104	60852269	9	28233										
CUL3	8452	genome.wustl.edu	37	chr2	225339094	225339095	+	Splice_Site	INS	-	-	CA													0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ccttcaactgctgagttaccINStaaaaaagaaagtagatagt							TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:225339094_225339095insCA	ENST00000264414.4	-	16	2514		c.e16-1		CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCTGAGTTACCTAAAAAAGAAA	0.332																																																	0																																										SO:0001630	splice_region_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2176-1->TG	2.37:g.225339094_225339095insCA			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	INS	-	e16-1	ENST00000264414.4	37	c.2176-2_2176-1	CCDS2462.1	2																																																																																			CUL3	-	-		0.332	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	-		Intron	225339095	-1	no_errors	ENST00000264414	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	CA	CA	225339095	-	CA	225339094	8	5	159	1	0	1	1	0	0	0	1	0	4061	695	24	0	135	0	CUL3	2	225339094	Splice_Site	INS	-	TCGA-JW-A5VK-01A-11D-A28B-09	42991990	225339094	17860279	10	28234	170	2								
CUL3	8452	genome.wustl.edu	37	chr2	225339095	225339095	+	Splice_Site	SNP	T	T	A													0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ccttcaactgctgagttaccTaaaaaagaaagtagatagta							TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:225339095T>A	ENST00000264414.4	-	16	2514		c.e16-2		CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGAGTTACCTAAAAAAGAAA	0.328																																																	0													62	59	60					2																	225339095		2203	4300	6503	SO:0001630	splice_region_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2176-2A>T	2.37:g.225339095T>A			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	-	e16-2	ENST00000264414.4	37	c.2176-2	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934796	0.52866	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777;ENST00000451538	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3902	0.74739	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225047339	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.949000	0.70257	2.042000	0.60477	0.533000	0.62120	.	CUL3	-	-		0.328	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	T		Intron	225339095	-1	no_errors	ENST00000264414	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	225339095	T	A	225339095	5	1	159	1	0	0	0	0	0	0	1	0	4061	1536	53	5	136	5	CUL3	2	225339095	Splice_Site	SNP	T	TCGA-JW-A5VK-01A-11D-A28B-09	1	225339095	17860278	11	28235	170	2								
PLD1	5337	genome.wustl.edu	37	chr3	171406586	171406586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	atccctcccacaaaggccacCgattggtcaatgatgacaag	8	13	1	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr3:171406586C>T	ENST00000351298.4	-	14	1545	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	PLD1_ENST00000342215.6_Silent_p.S473S|PLD1_ENST00000340989.4_Silent_p.S473S|PLD1_ENST00000356327.5_Silent_p.S473S	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	473	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAAAGGCCACCGATTGGTCAA	0.537																																					NSCLC(149;2174 3517 34058)												0													122	100	108					3																	171406586		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1419G>A	3.37:g.171406586C>T				Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.S473	ENST00000351298.4	37	c.1419	CCDS3216.1	3																																																																																			PLD1	-	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_PLipase_D/transphosphatidylase		0.537	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	C	NM_002662		171406586	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	silent	SNP	0.054	T	T	171406586	C	T	171406586	2	4	159	1	0	0	0	0	0	0	0	1	12069	639	23	2		2	PLD1	3	171406586	Silent	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		171406586	26615844	12	28236										
AFF1	4299	genome.wustl.edu	37	chr4	88036015	88036015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gcccccctccagtgagaagaAgaagcacaagagctccctcc	9	16	0	4	rs377041113		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr4:88036015A>G	ENST00000307808.6	+	11	2429	c.2009A>G	c.(2008-2010)aAg>aGg	p.K670R	AFF1_ENST00000544085.1_Missense_Mutation_p.K308R|AFF1_ENST00000395146.4_Missense_Mutation_p.K677R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	670					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGTGAGAAGAAGAAGCACAAG	0.602																																																	0													45	54	51					4																	88036015		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2009A>G	4.37:g.88036015A>G	ENSP00000305689:p.Lys670Arg		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K677R	ENST00000307808.6	37	c.2030	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801472	0.50315	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.95	4.78	0.61160	.	0.260619	0.38663	N	0.001610	T	0.43299	0.1241	N	0.12746	0.255	0.37391	D	0.912442	B;B;B	0.24258	0.1;0.1;0.1	B;B;B	0.26094	0.066;0.066;0.066	T	0.40813	-0.9543	10	0.29301	T	0.29	-11.1465	11.2297	0.48905	0.9278:0.0:0.0722:0.0	.	677;670;670	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	R	677;329;670;308	ENSP00000378578:K677R;ENSP00000305689:K670R;ENSP00000440843:K308R	ENSP00000305689:K670R	K	+	2	0	AFF1	88255039	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	1.587000	0.36622	1.092000	0.41356	0.402000	0.26972	AAG	AFF1	-	pfam_TF_AF4/FMR2		0.602	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	A	NM_005935		88036015	1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	0.995	G	G	88036015	A	G	88036015	3	3	159	1	0	0	0	0	1	0	0	0	356	72	3	5	2093	5	AFF1	4	88036015	Missense_Mutation	SNP	A	TCGA-JW-A5VK-01A-11D-A28B-09		88036015	103118261	13	28237										
RGNEF	64283	genome.wustl.edu	37	chr5	73236812	73236812	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	atggggaaactggagatggaGccaaagaaaatattgtttac	12	4	0	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:73236812G>C	ENST00000426542.2	+	35	5112	c.5092G>C	c.(5092-5094)Gcc>Ccc	p.A1698P	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A1385P|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.A644P|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A1680P|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A1698P|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A1724P|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A1724P			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1698	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGGAGATGGAGCCAAAGAAAA	0.398																																																	0																																										SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.5092G>C	5.37:g.73236812G>C	ENSP00000412175:p.Ala1698Pro		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A1724P	ENST00000426542.2	37	c.5170	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521188	0.85600	.	.	ENSG00000214944	ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T	0.38722	2.84;3.1;2.64;2.84;3.1;2.94;1.12	5.98	3.27	0.37495	.	.	.	.	.	T	0.40743	0.1129	N	0.24115	0.695	0.09310	N	1	P;P;D;D	0.63880	0.93;0.93;0.966;0.993	B;B;B;P	0.56563	0.368;0.368;0.446;0.801	T	0.14309	-1.0477	9	0.62326	D	0.03	.	7.3095	0.26467	0.2586:0.0:0.7414:0.0	.	1385;1698;1724;644	B5MDA3;Q8N1W1;E9PC75;D6RGZ3	.;RGNEF_HUMAN;.;.	P	1724;1698;1680;1724;1698;1385;644	ENSP00000441913:A1724P;ENSP00000441436:A1698P;ENSP00000287898:A1680P;ENSP00000411459:A1724P;ENSP00000412175:A1698P;ENSP00000296799:A1385P;ENSP00000421081:A644P	ENSP00000287898:A1680P	A	+	1	0	RP11-428C6.1	73272568	0.583000	0.26757	0.002000	0.10522	0.827000	0.46813	3.378000	0.52432	0.894000	0.36317	-0.142000	0.14014	GCC	ARHGEF28	-	NULL		0.398	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	G			73236812	1	no_errors	ENST00000545377	ensembl	human	known	70_37	missense	SNP	0.001	C	C	73236812	G	C	73236812	3	2	159	1	0	0	0	0	1	0	0	0	13313	971	34	4	5312	4	RGNEF	5	73236812	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09		73236812	107678448	14	28238										
ENC1	8507	genome.wustl.edu	37	chr5	73931944	73931944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	aaactccagcatgtcaccagCttccaggagcgattctgcat	8	13	2	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:73931944C>A	ENST00000302351.4	-	2	1497	c.367G>T	c.(367-369)Gct>Tct	p.A123S	ENC1_ENST00000537006.1_Missense_Mutation_p.A123S|ENC1_ENST00000510316.1_Missense_Mutation_p.A50S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	123				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATGTCACCAGCTTCCAGGAGC	0.522																																																	0													103	100	101					5																	73931944		2203	4300	6503	SO:0001583	missense	8507			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.367G>T	5.37:g.73931944C>A	ENSP00000306356:p.Ala123Ser		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A123S	ENST00000302351.4	37	c.367	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555038	0.86231	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.74526	-0.85;-0.85;-0.85	6.04	6.04	0.98038	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.92026	3.265	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.90865	0.4741	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	123	O14682	ENC1_HUMAN	S	123;50;123	ENSP00000306356:A123S;ENSP00000423804:A50S;ENSP00000446289:A123S	ENSP00000306356:A123S	A	-	1	0	ENC1	73967700	1.000000	0.71417	0.972000	0.41901	0.978000	0.69477	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GCT	ENC1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.522	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	C	NM_003633		73931944	-1	no_errors	ENST00000302351	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73931944	C	A	73931944	3	1	159	1	0	0	0	0	1	0	0	0	5125	797	28	4	1406	4	ENC1	5	73931944	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	695132	73931944	106983316	15	28239										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720392	140720392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	agcgagccgggactcttctcGgtgggtctgcacacgggcga	16	12	3	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:140720392G>A	ENST00000394576.2	+	1	1854	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.677																																																	0													38	46	43					5																	140720392		2195	4294	6489	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1854G>A	5.37:g.140720392G>A			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S618	ENST00000394576.2	37	c.1854	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720392	1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140720392	G	A	140720392	2	1	159	1	0	0	0	0	0	0	0	1	11578	1103	39	2		2	PCDHGA2	5	140720392	Silent	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	66788448	140720392	40194868	16	28240										
ODZ2	57451	genome.wustl.edu	37	chr5	167674346	167674346	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	cactttggtaagtttggagtCatctattatgacatcaacca	7	8	3	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:167674346C>T	ENST00000518659.1	+	27	6441	c.6402C>T	c.(6400-6402)gtC>gtT	p.V2134V	TENM2_ENST00000403607.2_Silent_p.V1958V|TENM2_ENST00000520394.1_Silent_p.V1895V|TENM2_ENST00000519204.1_Silent_p.V2013V|TENM2_ENST00000545108.1_Silent_p.V2133V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2134					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTTTGGAGTCATCTATTATG	0.498																																																	0													138	137	137					5																	167674346		2025	4167	6192	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6402C>T	5.37:g.167674346C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V2134	ENST00000518659.1	37	c.6402		5																																																																																			TENM2	-	superfamily_ConA-like_lec_gl_sf		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167674346	1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	1.000	T	T	167674346	C	T	167674346	2	4	159	1	0	0	0	0	0	0	0	1	10859	813	29	1		1	ODZ2	5	167674346	Silent	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	26953954	167674346	13240914	17	28241										
GSTA5	221357	genome.wustl.edu	37	chr6	52701125	52701125	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ctgcaccagcttcatcccgtCaatctcaaccattggtactt	5	15	3	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:52701125C>A	ENST00000370989.2	-	3	210	c.181G>T	c.(181-183)Gac>Tac	p.D61Y	GSTA5_ENST00000284562.2_Missense_Mutation_p.D61Y|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	61	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCATCCCGTCAATCTCAACC	0.428																																																	0													125	123	124					6																	52701125		2203	4300	6503	SO:0001583	missense	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.181G>T	6.37:g.52701125C>A	ENSP00000360028:p.Asp61Tyr		Q5SZC2	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.D61Y	ENST00000370989.2	37	c.181	CCDS4946.1	6	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419109	0.42918	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.19250	2.16;2.16	2.63	0.668	0.17912	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.171457	0.49305	N	0.000150	T	0.53222	0.1783	H	0.99874	4.875	0.44677	D	0.997664	D	0.89917	1.0	D	0.87578	0.998	T	0.61158	-0.7119	10	0.87932	D	0	.	8.0695	0.30680	0.0:0.7791:0.0:0.2209	.	61	Q7RTV2	GSTA5_HUMAN	Y	61	ENSP00000360028:D61Y;ENSP00000284562:D61Y	ENSP00000284562:D61Y	D	-	1	0	GSTA5	52809084	0.950000	0.32346	0.981000	0.43875	0.699000	0.40488	2.131000	0.42074	-0.002000	0.14469	0.205000	0.17691	GAC	GSTA5	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.428	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	C	NM_153699		52701125	-1	no_errors	ENST00000284562	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52701125	C	A	52701125	3	1	159	1	0	0	0	0	1	0	0	0	6854	826	29	3	503	3	GSTA5	6	52701125	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		52701125	118413942	18	28242										
C6orf174	387104	genome.wustl.edu	37	chr6	127797184	127797184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ctgctcctccaggtcggccaCgttcctccgcagcagctccg	10	19	0	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:127797184C>T	ENST00000525778.1	-	6	2732	c.1987G>A	c.(1987-1989)Gtg>Atg	p.V663M	SOGA3_ENST00000481848.2_Missense_Mutation_p.V663M|SOGA3_ENST00000556132.1_Missense_Mutation_p.V663M|SOGA3_ENST00000465909.2_Missense_Mutation_p.V663M|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000368268.2_Missense_Mutation_p.V663M			Q5TF21	SOGA3_HUMAN	SOGA family member 3	663					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGGTCGGCCACGTTCCTCCGC	0.652																																																	0													54	59	58					6																	127797184		2190	4285	6475	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1987G>A	6.37:g.127797184C>T	ENSP00000434570:p.Val663Met			Missense_Mutation	SNP	pfam_DUF3166	p.V663M	ENST00000525778.1	37	c.1987	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080052	0.55753	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.22	4.26	0.50523	.	0.137184	0.48767	D	0.000173	T	0.24928	0.0605	N	0.08118	0	0.39024	D	0.959807	D	0.69078	0.997	D	0.66084	0.941	T	0.19128	-1.0315	10	0.54805	T	0.06	-25.6109	11.4333	0.50054	0.1883:0.7024:0.1093:0.0	.	663	Q5TF21	CF174_HUMAN	M	663	ENSP00000451768:V663M;ENSP00000357251:V663M;ENSP00000434570:V663M;ENSP00000435559:V663M	ENSP00000435559:V663M	V	-	1	0	C6orf174	127838877	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.554000	0.23407	2.445000	0.82738	0.561000	0.74099	GTG	SOGA3	-	pfam_DUF3166		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127797184	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127797184	C	T	127797184	3	4	159	1	0	0	0	0	1	0	0	0	2350	536	19	2	864	2	C6orf174	6	127797184	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	75096059	127797184	43317883	19	28243										
RPS6KA2	6196	genome.wustl.edu	37	chr6	166826326	166826326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	acagcacgggctccagccgcGgggcctgaggtgttctgttt	15	12	1	1	rs555832127		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:166826326G>A	ENST00000265678.4	-	21	2349	c.2126C>T	c.(2125-2127)cCg>cTg	p.P709L	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.P620L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.P717L|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.P734L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.P620L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	709					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTCCAGCCGCGGGGCCTGAGG	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		16076	0		0	False		,,,				2504	0																0													28	30	29					6																	166826326		2190	4289	6479	SO:0001583	missense	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2126C>T	6.37:g.166826326G>A	ENSP00000265678:p.Pro709Leu		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P734L	ENST00000265678.4	37	c.2201	CCDS5294.1	6	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497614	0.64186	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.38	4.38	0.52667	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.84683	2.71	0.80722	D	1	B;B;D	0.89917	0.055;0.091;1.0	B;B;D	0.74023	0.02;0.03;0.982	T	0.59252	-0.7489	10	0.22706	T	0.39	.	16.3563	0.83236	0.0:0.0:1.0:0.0	.	734;717;709	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	L	709;734;717;620;620	ENSP00000265678:P709L;ENSP00000422435:P734L;ENSP00000427015:P717L;ENSP00000422484:P620L;ENSP00000386050:P620L	ENSP00000265678:P709L	P	-	2	0	RPS6KA2	166746316	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	8.676000	0.91199	2.168000	0.68352	0.558000	0.71614	CCG	RPS6KA2	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II		0.647	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166826326	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	missense	SNP	0.997	A	A	166826326	G	A	166826326	3	1	159	1	0	0	0	0	1	0	0	0	13681	1116	39	2	79	2	RPS6KA2	6	166826326	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	39029142	166826326	4288741	20	28244										
XKR4	114786	genome.wustl.edu	37	chr8	56015526	56015526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tgctcggctctctgtcggtgCaagtgttcagcttccgctgg	13	12	2	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr8:56015526C>G	ENST00000327381.6	+	1	578	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	160						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCTGTCGGTGCAAGTGTTCAG	0.652																																																	0													53	37	42					8																	56015526		2202	4299	6501	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.478C>G	8.37:g.56015526C>G	ENSP00000328326:p.Gln160Glu		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.Q160E	ENST00000327381.6	37	c.478	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783639	0.90282	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.70045	-0.45	5.48	5.48	0.80851	.	0.073046	0.56097	D	0.000027	D	0.83977	0.5371	M	0.83223	2.63	0.52501	D	0.999951	D	0.63046	0.992	D	0.76071	0.987	D	0.85993	0.1490	10	0.87932	D	0	-0.9482	19.3419	0.94347	0.0:1.0:0.0:0.0	.	160	Q5GH76	XKR4_HUMAN	E	160	ENSP00000328326:Q160E	ENSP00000328326:Q160E	Q	+	1	0	XKR4	56178080	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.201000	0.77847	2.573000	0.86826	0.585000	0.79938	CAA	XKR4	-	pfam_Transport_prot_XK		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56015526	1	no_errors	ENST00000327381	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56015526	C	G	56015526	3	3	159	1	0	0	0	0	1	0	0	0	17464	711	25	4	480	4	XKR4	8	56015526	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		56015526	90348496	21	28245										
PLEC	5339	genome.wustl.edu	37	chr8	144995513	144995513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gcgccggtaggccacgtccaCgggcacgcggtggctgtgca	17	14	0	0	rs371422018		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr8:144995513C>T	ENST00000322810.4	-	32	9056	c.8887G>A	c.(8887-8889)Gtg>Atg	p.V2963M	PLEC_ENST00000356346.3_Missense_Mutation_p.V2812M|PLEC_ENST00000527096.1_Missense_Mutation_p.V2849M|PLEC_ENST00000357649.2_Missense_Mutation_p.V2830M|PLEC_ENST00000354958.2_Missense_Mutation_p.V2804M|PLEC_ENST00000354589.3_Missense_Mutation_p.V2826M|PLEC_ENST00000398774.2_Missense_Mutation_p.V2794M|PLEC_ENST00000345136.3_Missense_Mutation_p.V2826M|PLEC_ENST00000436759.2_Missense_Mutation_p.V2853M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2963	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCACGTCCACGGGCACGCGG	0.687																																																	0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3979		0,1,1989	58	63	61		8557,8434,8410,8887,8380,8476,8488,8476	4.9	1	8		61	0,8290		0,0,4145	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	21,21,21,21,21,21,21,21	0,1,6134	TT,TC,CC		0.0,0.0251,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2853/4575,2812/4534,2804/4526,2963/4685,2794/4516,2826/4548,2830/4552,2826/4548	144995513	1,12269	1990	4145	6135	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8887G>A	8.37:g.144995513C>T	ENSP00000323856:p.Val2963Met		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.V2963M	ENST00000322810.4	37	c.8887	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447383	0.25987	2.51E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.95	4.95	0.65309	.	0.511841	0.16298	U	0.220596	D	0.84160	0.5411	M	0.81112	2.525	0.32179	N	0.580578	D;D;D;D;D;D;D;D	0.69078	0.996;0.996;0.996;0.997;0.996;0.996;0.996;0.996	P;P;P;P;P;P;P;P	0.54060	0.623;0.623;0.623;0.741;0.623;0.623;0.623;0.623	D	0.87474	0.2416	10	0.87932	D	0	.	11.7306	0.51735	0.0:0.9171:0.0:0.0829	.	2853;2812;2804;2963;2794;2826;2830;2826	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2826;2830;2826;2794;2963;2804;2812;2853;2849	ENSP00000344848:V2826M;ENSP00000350277:V2830M;ENSP00000346602:V2826M;ENSP00000381756:V2794M;ENSP00000323856:V2963M;ENSP00000347044:V2804M;ENSP00000348702:V2812M;ENSP00000388180:V2853M;ENSP00000434583:V2849M	ENSP00000323856:V2963M	V	-	1	0	PLEC	145067501	0.098000	0.21812	1.000000	0.80357	0.725000	0.41563	0.617000	0.24359	2.479000	0.83701	0.456000	0.33151	GTG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144995513	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	144995513	C	T	144995513	3	4	159	1	0	0	0	0	1	0	0	0	12076	536	19	2	5171	2	PLEC	8	144995513	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	88979987	144995513	1368509	22	28246										
FAM22G	441457	genome.wustl.edu	37	chr9	99700931	99700931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	cccccaggctgaaggctgtcCggccaacctctcctccccag	9	20	1	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:99700931C>T	ENST00000372322.3	+	7	1747	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	NUTM2G_ENST00000354649.3_Intron|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	576																	GAAGGCTGTCCGGCCAACCTC	0.652																																																	0													38	56	50					9																	99700931		691	1591	2282	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1726C>T	9.37:g.99700931C>T	ENSP00000361397:p.Arg576Trp		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.R576W	ENST00000372322.3	37	c.1726	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	6.785	0.513769	0.12944	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12361	2.69	0.845	0.845	0.18950	.	3.662470	0.00772	N	0.001209	T	0.17662	0.0424	L	0.47716	1.5	0.09310	N	1	.	.	.	.	.	.	T	0.28490	-1.0042	8	0.52906	T	0.07	.	5.0891	0.14698	0.0:1.0:0.0:0.0	.	.	.	.	W	576;425;457	ENSP00000361397:R576W	ENSP00000361397:R576W	R	+	1	2	FAM22G	98740752	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.862000	0.04263	0.785000	0.33685	0.291000	0.19559	CGG	FAM22G	-	NULL		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	C	NM_001170741		99700931	1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.001	T	T	99700931	C	T	99700931	3	4	159	1	0	0	0	0	1	0	0	0	5561	643	23	2	1752	2	FAM22G	9	99700931	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		99700931	41512500	23	28247										
MEGF9	1955	genome.wustl.edu	37	chr9	123374761	123374761	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	aggactctgataaaatccttCtttacattcttcacagtgat	5	9	4	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:123374761C>T	ENST00000373930.3	-	4	1111	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	MEGF9_ENST00000426959.1_Missense_Mutation_p.E371K	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TAAAATCCTTCTTTACATTCT	0.373																																																	0													127	120	122					9																	123374761		1884	4119	6003	SO:0001583	missense	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1000G>A	9.37:g.123374761C>T	ENSP00000363040:p.Glu334Lys		B7Z315|O75098	Missense_Mutation	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.E371K	ENST00000373930.3	37	c.1111	CCDS48010.2	9	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751684	0.69533	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.61859	0.07;0.07	5.92	5.92	0.95590	.	0.530450	0.19330	N	0.116916	T	0.53769	0.1817	L	0.45352	1.415	0.38697	D	0.952891	P	0.40360	0.714	B	0.42245	0.381	T	0.54490	-0.8286	10	0.35671	T	0.21	-2.2152	13.7716	0.63029	0.0:0.9276:0.0:0.0724	.	371	C9J1K8	.	K	334;371	ENSP00000363040:E334K;ENSP00000392666:E371K	ENSP00000363040:E334K	E	-	1	0	MEGF9	122414582	0.981000	0.34729	1.000000	0.80357	0.958000	0.62258	1.956000	0.40382	2.822000	0.97130	0.650000	0.86243	GAA	MEGF9	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.373	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	C	NM_001080497		123374761	-1	no_errors	ENST00000426959	ensembl	human	known	70_37	missense	SNP	0.998	T	T	123374761	C	T	123374761	3	4	159	1	0	0	0	0	1	0	0	0	9487	922	32	1	820	1	MEGF9	9	123374761	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	23673830	123374761	17838670	24	28248										
COL5A1	1289	genome.wustl.edu	37	chr9	137620534	137620534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	agtacacggaaggagacggcGagggtgagacctattactac	14	8	0	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:137620534G>A	ENST00000371817.3	+	6	1219	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	269	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGAGACGGCGAGGGTGAGAC	0.602																																																	0													126	131	129					9																	137620534		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.805G>A	9.37:g.137620534G>A	ENSP00000360882:p.Glu269Lys		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E269K	ENST00000371817.3	37	c.805	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159493	0.21454	.	.	ENSG00000130635	ENST00000371817	D	0.89050	-2.46	3.93	3.93	0.45458	.	0.247548	0.25813	U	0.028139	D	0.83691	0.5309	L	0.59436	1.845	0.38405	D	0.945766	B	0.28783	0.222	B	0.16289	0.015	T	0.80560	-0.1328	10	0.06099	T	0.92	.	15.9158	0.79517	0.0:0.0:1.0:0.0	.	269	P20908	CO5A1_HUMAN	K	269	ENSP00000360882:E269K	ENSP00000360882:E269K	E	+	1	0	COL5A1	136760355	1.000000	0.71417	0.634000	0.29324	0.452000	0.32318	5.371000	0.66150	1.724000	0.51502	0.462000	0.41574	GAG	COL5A1	-	NULL		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137620534	1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	0.999	A	A	137620534	G	A	137620534	3	1	159	1	0	0	0	0	1	0	0	0	3701	1059	37	1	827	1	COL5A1	9	137620534	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	14245773	137620534	3592897	25	28249										
DNAJC1	64215	genome.wustl.edu	37	chr10	22048515	22048515	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gatgggcctggaattctgaaCtgtcgatttgagttcggaga	14	6	1	3			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr10:22048515C>G	ENST00000376980.3	-	11	1470	c.1180G>C	c.(1180-1182)Gtt>Ctt	p.V394L	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	394					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GAATTCTGAACTGTCGATTTG	0.557																																																	0													53	48	50					10																	22048515		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1180G>C	10.37:g.22048515C>G	ENSP00000366179:p.Val394Leu		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.V394L	ENST00000376980.3	37	c.1180	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729489	0.30684	.	.	ENSG00000136770	ENST00000376980	T	0.21932	1.98	5.31	5.31	0.75309	.	0.371459	0.28036	N	0.016847	T	0.16854	0.0405	L	0.34521	1.04	0.80722	D	1	B;B	0.30406	0.278;0.003	B;B	0.22386	0.039;0.002	T	0.05115	-1.0905	10	0.22109	T	0.4	0.0101	17.153	0.86782	0.0:1.0:0.0:0.0	.	115;394	Q96NY3;Q96KC8	.;DNJC1_HUMAN	L	394	ENSP00000366179:V394L	ENSP00000366179:V394L	V	-	1	0	DNAJC1	22088521	0.443000	0.25641	0.008000	0.14137	0.215000	0.24574	2.388000	0.44398	2.489000	0.83994	0.491000	0.48974	GTT	DNAJC1	-	NULL		0.557	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048515	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.213	G	G	22048515	C	G	22048515	3	3	159	1	0	0	0	0	1	0	0	0	4638	565	20	4	492	4	DNAJC1	10	22048515	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		22048515	113486232	26	28250										
ZMIZ1	57178	genome.wustl.edu	37	chr10	81070690	81070690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ctcctccacagatgccacacGctggcagctctgaccagccc	8	19	1	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr10:81070690G>A	ENST00000334512.5	+	24	3417	c.2845G>A	c.(2845-2847)Gct>Act	p.A949T	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	949	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATGCCACACGCTGGCAGCTC	0.592																																																	0													78	72	74					10																	81070690		2203	4300	6503	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2845G>A	10.37:g.81070690G>A	ENSP00000334474:p.Ala949Thr		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.A949T	ENST00000334512.5	37	c.2845	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346828	0.41599	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.28895	1.59	4.71	2.59	0.31030	.	0.182769	0.26082	N	0.026459	T	0.15349	0.0370	N	0.11560	0.145	0.80722	D	1	B	0.23650	0.089	B	0.23574	0.047	T	0.06807	-1.0806	10	0.31617	T	0.26	-1.3252	9.2633	0.37625	0.0967:0.2356:0.6676:0.0	.	949	Q9ULJ6	ZMIZ1_HUMAN	T	949;879;850	ENSP00000334474:A949T	ENSP00000334474:A949T	A	+	1	0	ZMIZ1	80740696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.487000	0.53222	1.075000	0.40932	0.591000	0.81541	GCT	ZMIZ1	-	NULL		0.592	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	G	NM_020338		81070690	1	no_errors	ENST00000334512	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81070690	G	A	81070690	3	1	159	1	0	0	0	0	1	0	0	0	17726	1087	38	2	2923	2	ZMIZ1	10	81070690	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	59022175	81070690	54464057	27	28251										
C10orf12	26148	genome.wustl.edu	37	chr10	98744690	98744690	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tctattgcctcggaaacactGacgaaacctgcaaaacagaa	7	11	1	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr10:98744690G>A	ENST00000286067.2	+	1	3650	c.3543G>A	c.(3541-3543)ctG>ctA	p.L1181L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1181										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGAAACACTGACGAAACCTG	0.512																																																	0													45	52	50					10																	98744690		2203	4300	6503	SO:0001819	synonymous_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3543G>A	10.37:g.98744690G>A			Q9H945|Q9Y457	Silent	SNP	NULL	p.L1181	ENST00000286067.2	37	c.3543	CCDS7452.1	10																																																																																			C10orf12	-	NULL		0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98744690	1	no_errors	ENST00000286067	ensembl	human	known	70_37	silent	SNP	0.000	A	A	98744690	G	A	98744690	2	1	159	1	0	0	0	0	0	0	0	1	1593	1277	45	1		1	C10orf12	10	98744690	Silent	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	17674000	98744690	36790057	28	28252										
OR8K3	219473	genome.wustl.edu	37	chr11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ggaacaacacaatctaacaaCggtgaatgaattcattctta	6	8	3	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:56085805C>T	ENST00000312711.1	+	1	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413																																																	0													123	113	116					11																	56085805		2201	4295	6496	SO:0001583	missense	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.23C>T	11.37:g.56085805C>T	ENSP00000323555:p.Thr8Met		Q6IFC4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T8M	ENST00000312711.1	37	c.23	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846388	0.16963	.	.	ENSG00000181689	ENST00000312711	T	0.19806	2.12	5.36	0.949	0.19566	.	1.375110	0.04605	N	0.399295	T	0.11452	0.0279	N	0.16656	0.425	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30208	-0.9986	10	0.30078	T	0.28	.	0.455	0.00507	0.1757:0.229:0.1823:0.413	.	8	Q8NH51	OR8K3_HUMAN	M	8	ENSP00000323555:T8M	ENSP00000323555:T8M	T	+	2	0	OR8K3	55842381	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-1.038000	0.03553	0.380000	0.24823	-0.321000	0.08615	ACG	OR8K3	-	NULL		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	C	NM_001005202		56085805	1	no_errors	ENST00000312711	ensembl	human	known	70_37	missense	SNP	0.001	T	T	56085805	C	T	56085805	3	4	159	1	0	0	0	0	1	0	0	0	11268	536	19	2	25	2	OR8K3	11	56085805	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		56085805	78920711	29	28253										
MAP3K11	4296	genome.wustl.edu	37	chr11	65375232	65375232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tgtgcctccagcgcctccaaCtgctgcaggatggaggcgaa	13	13	0	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:65375232C>T	ENST00000530153.1	-	4	875	c.354G>A	c.(352-354)caG>caA	p.Q118Q	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.Q375Q|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGCCTCCAACTGCTGCAGGA	0.652																																																	0													41	46	44					11																	65375232		2200	4297	6497	SO:0001819	synonymous_variant	4296				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.354G>A	11.37:g.65375232C>T				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q375	ENST00000530153.1	37	c.1125		11																																																																																			MAP3K11	-	pirsf_MAPKKK9/10/11,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,pfscan_Prot_kinase_cat_dom		0.652	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2	C			65375232	-1	no_errors	ENST00000309100	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65375232	C	T	65375232	2	4	159	1	0	0	0	0	0	0	0	1	9268	564	20	4		4	MAP3K11	11	65375232	Silent	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	9289427	65375232	69631284	30	28254										
SHANK2	22941	genome.wustl.edu	37	chr11	70333726	70333726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gggacgggggcacagactgcGgtggaggggggatgtcctca	21	8	1	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:70333726G>A	ENST00000423696.2	-	15	1571	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P295L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P296L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P892L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	512	Pro-rich.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACAGACTGCGGTGGAGGGGG	0.587																																																	0													36	34	34					11																	70333726		2200	4294	6494	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1535C>T	11.37:g.70333726G>A	ENSP00000394536:p.Pro512Leu		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P892L	ENST00000423696.2	37	c.2675		11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219768	0.79464	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;D;T;T	0.85484	-0.88;-0.93;-0.32;-1.99;-0.73;-0.69	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91788	0.7402	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.998	D	0.92669	0.6148	10	0.62326	D	0.03	.	17.6668	0.88205	0.0:0.0:1.0:0.0	.	512;891;296	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	296;295;170;892;512;530;515	ENSP00000399423:P296L;ENSP00000386491:P295L;ENSP00000402944:P170L;ENSP00000345193:P892L;ENSP00000394536:P512L;ENSP00000294018:P515L	ENSP00000294018:P515L	P	-	2	0	SHANK2	70011374	1.000000	0.71417	0.090000	0.20809	0.799000	0.45148	9.151000	0.94674	2.168000	0.68352	0.655000	0.94253	CCG	SHANK2	-	NULL		0.587	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		G	NM_012309		70333726	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	missense	SNP	0.996	A	A	70333726	G	A	70333726	3	1	159	1	0	0	0	0	1	0	0	0	14295	1116	39	2	2885	2	SHANK2	11	70333726	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	4958494	70333726	64672790	31	28255										
OR10G8	219869	genome.wustl.edu	37	chr11	123901166	123901166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gttttctacactgtgctgacGccccttctcaaccctgttgt	7	14	2	1	rs138666219	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:123901166G>A	ENST00000431524.1	+	1	870	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGACGCCCCTTCTCA	0.493													G|||	2	0.000399361	0.0015	0	5008	,	,		19471	0		0	False		,,,				2504	0																0								G		3,4399	6.2+/-15.9	0,3,2198	127	120	122		837	-5.8	0.3	11	dbSNP_134	122	0,8598		0,0,4299	no	coding-synonymous	OR10G8	NM_001004464.1		0,3,6497	AA,AG,GG		0.0,0.0682,0.0231		279/312	123901166	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.837G>A	11.37:g.123901166G>A			B2RNJ3|Q6IEV2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T279	ENST00000431524.1	37	c.837	CCDS31704.1	11																																																																																			OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	G	NM_001004464		123901166	1	no_errors	ENST00000431524	ensembl	human	known	70_37	silent	SNP	0.051	A	A	123901166	G	A	123901166	2	1	159	1	0	0	0	0	0	0	0	1	10927	1074	38	2		2	OR10G8	11	123901166	Silent	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	53567440	123901166	11105350	32	28256										
MLL2	8085	genome.wustl.edu	37	chr12	49432029	49432030	+	Frame_Shift_Ins	INS	-	-	G													0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	attgagcaggtcatccaagtINSgggggtcattggtctccagg							TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr12:49432029_49432030insG	ENST00000301067.7	-	34	9108_9109	c.9109_9110insC	c.(9109-9111)cacfs	p.H3037fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3037					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCATCCAAGTGGGGGTCATTG	0.515																																																	0																																										SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9110dupC	12.37:g.49432034_49432034dupG	ENSP00000301067:p.His3037fs		O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H3037fs	ENST00000301067.7	37	c.9110_9109	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.515	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	-			49432030	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	G	G	49432030	-	G	49432029	7	5	159	1	0	1	1	0	0	0	0	0	9644	1696	59	0	7587	0	MLL2	12	49432029	Frame_Shift_Ins	INS	-	TCGA-JW-A5VK-01A-11D-A28B-09		49432029	84419866	33	28257										
ATP8A2	51761	genome.wustl.edu	37	chr13	26413729	26413729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ccttggtccactccctcatcCtcttctggtttcccatgaaa	5	16	3	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr13:26413729C>T	ENST00000381655.2	+	30	3065	c.2923C>T	c.(2923-2925)Ctc>Ttc	p.L975F	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.L910F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	935					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTCCCTCATCCTCTTCTGGTT	0.527																																																	0													146	146	146					13																	26413729		1991	4170	6161	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2923C>T	13.37:g.26413729C>T	ENSP00000371070:p.Leu975Phe		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L975F	ENST00000381655.2	37	c.2923	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886455	0.91814	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.68903	-0.36;-0.36	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.991	D	0.83431	0.0038	10	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	910;755;935	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	F	975;910;755	ENSP00000371070:L975F;ENSP00000255283:L910F	ENSP00000255283:L910F	L	+	1	0	ATP8A2	25311729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.479000	0.81095	2.656000	0.90262	0.557000	0.71058	CTC	ATP8A2	-	tigrfam_ATPase_P-typ_Plipid-transl		0.527	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	C	NM_016529		26413729	1	no_errors	ENST00000381655	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26413729	C	T	26413729	3	4	159	1	0	0	0	0	1	0	0	0	1194	681	24	4	3041	4	ATP8A2	13	26413729	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		26413729	88756149	34	28258										
FLT3	2322	genome.wustl.edu	37	chr13	28601288	28601288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tgtgttccttgaaaatctctGtccaagtcctgtgaaatttt	7	8	1	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr13:28601288G>A	ENST00000241453.7	-	17	2225	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I	FLT3_ENST00000380982.4_Missense_Mutation_p.T715I|FLT3_ENST00000537084.1_Missense_Mutation_p.T715I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATCTCTGTCCAAGTCCT	0.363			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													162	166	165					13																	28601288		2203	4300	6503	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2144C>T	13.37:g.28601288G>A	ENSP00000241453:p.Thr715Ile		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T715I	ENST00000241453.7	37	c.2144	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446810	0.84101	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.88896	-2.44;-2.44;-2.44	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.90762	0.7100	N	0.20445	0.575	0.53688	D	0.999978	D;P	0.89917	1.0;0.615	D;P	0.91635	0.999;0.74	D	0.89622	0.3849	10	0.35671	T	0.21	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	715;715	P36888-2;P36888	.;FLT3_HUMAN	I	715	ENSP00000241453:T715I;ENSP00000370369:T715I;ENSP00000438139:T715I	ENSP00000241453:T715I	T	-	2	0	FLT3	27499288	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.418000	0.80167	2.861000	0.98227	0.655000	0.94253	ACA	FLT3	-	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		0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	G			28601288	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28601288	G	A	28601288	3	1	159	1	0	0	0	0	1	0	0	0	5960	1377	48	4	869	4	FLT3	13	28601288	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	2187559	28601288	86568590	35	28259										
MCF2L	23263	genome.wustl.edu	37	chr13	113720424	113720424	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gagcctcagggagctgcaggCtgagggctcagagcccagtg	17	11	2	2	rs147786310	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr13:113720424C>G	ENST00000375608.3	+	9	969	c.911C>G	c.(910-912)gCt>gGt	p.A304G	MCF2L_ENST00000397030.1_Missense_Mutation_p.A307G|MCF2L_ENST00000423482.2_Missense_Mutation_p.A272G|MCF2L_ENST00000375604.2_Missense_Mutation_p.A331G|MCF2L_ENST00000434480.2_Missense_Mutation_p.A280G|MCF2L_ENST00000442652.2_Missense_Mutation_p.A304G|MCF2L_ENST00000375597.4_Missense_Mutation_p.A272G|MCF2L_ENST00000535094.2_Missense_Mutation_p.A274G|MCF2L_ENST00000421756.1_Missense_Mutation_p.A278G|MCF2L_ENST00000375601.3_Missense_Mutation_p.A278G			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	304					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGCTGCAGGCTGAGGGCTCA	0.632																																																	0													94	78	83					13																	113720424		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.911C>G	13.37:g.113720424C>G	ENSP00000364758:p.Ala304Gly		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A331G	ENST00000375608.3	37	c.992		13	.	.	.	.	.	.	.	.	.	.	C	4.164	0.028889	0.08054	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.0	2.15	0.27550	.	0.437677	0.24557	N	0.037506	T	0.21062	0.0507	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B	0.28208	0.125;0.125;0.203;0.129;0.029;0.077	B;B;B;B;B;B	0.32624	0.096;0.096;0.149;0.071;0.062;0.071	T	0.11690	-1.0577	10	0.28530	T	0.3	.	2.734	0.05235	0.1472:0.5476:0.143:0.1622	.	272;274;331;236;272;304	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	G	304;304;331;307;274;278;278;280;272;272;115	ENSP00000364758:A304G;ENSP00000401422:A304G;ENSP00000364754:A331G;ENSP00000380225:A307G;ENSP00000440374:A274G;ENSP00000397285:A278G;ENSP00000364751:A278G;ENSP00000407722:A280G;ENSP00000405639:A272G;ENSP00000364747:A272G	ENSP00000364747:A272G	A	+	2	0	MCF2L	112768425	0.583000	0.26757	0.107000	0.21349	0.009000	0.06853	1.176000	0.31957	0.520000	0.28426	0.561000	0.74099	GCT	MCF2L	-	NULL		0.632	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	C			113720424	1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	0.010	G	G	113720424	C	G	113720424	3	3	159	1	0	0	0	0	1	0	0	0	9402	797	28	4	1117	4	MCF2L	13	113720424	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	85119136	113720424	1449454	36	28260										
OAZ2	4947	genome.wustl.edu	37	chr15	64980915	64980915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tatgactattagtcctcatcGgacaagttctggtccagggg	11	9	2	1	rs201520056		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr15:64980915G>A	ENST00000326005.6	-	6	790	c.558C>T	c.(556-558)tcC>tcT	p.S186S	OAZ2_ENST00000560837.1_5'Flank|OAZ2_ENST00000559753.1_Silent_p.S57S|OAZ2_ENST00000560258.2_3'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	186					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	AGTCCTCATCGGACAAGTTCT	0.547																																																	0													46	44	45					15																	64980915		1917	4133	6050	SO:0001819	synonymous_variant	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.558C>T	15.37:g.64980915G>A				Silent	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.S186	ENST00000326005.6	37	c.558	CCDS58372.1	15																																																																																			OAZ2	-	NULL		0.547	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	G	NM_002537		64980915	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	silent	SNP	0.936	A	A	64980915	G	A	64980915	2	1	159	1	0	0	0	0	0	0	0	1	10829	1103	39	2		2	OAZ2	15	64980915	Silent	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09		64980915	37550477	37	28261										
ACSM2A	123876	genome.wustl.edu	37	chr16	20481025	20481025	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gctgtgatgggtggctgaacTtcaagaaactactaaagtga	12	6	1	4			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr16:20481025T>A	ENST00000573854.1	+	4	694	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	ACSM2A_ENST00000417235.2_Missense_Mutation_p.F115I|ACSM2A_ENST00000424070.1_Missense_Mutation_p.F194I|ACSM2A_ENST00000219054.6_Missense_Mutation_p.F194I|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.F194I|ACSM2A_ENST00000396104.2_Missense_Mutation_p.F194I|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	194					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGGCTGAACTTCAAGAAACT	0.438																																																	0													227	215	219					16																	20481025		2203	4300	6503	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.580T>A	16.37:g.20481025T>A	ENSP00000459451:p.Phe194Ile		B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.F194I	ENST00000573854.1	37	c.580	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121860	0.56613	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.50813	0.73;0.73;1.53;0.73	4.04	4.04	0.47022	AMP-dependent synthetase/ligase (1);	0.000000	0.46758	D	0.000279	T	0.61173	0.2326	M	0.70275	2.135	0.34002	D	0.650451	P;D	0.55385	0.885;0.971	P;P	0.58013	0.53;0.831	T	0.75164	-0.3414	10	0.72032	D	0.01	-18.5986	11.9917	0.53180	0.0:0.0:0.0:1.0	.	115;194	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	I	115;194;194;194	ENSP00000392169:F115I;ENSP00000219054:F194I;ENSP00000394904:F194I;ENSP00000379411:F194I	ENSP00000219054:F194I	F	+	1	0	ACSM2A	20388526	1.000000	0.71417	0.989000	0.46669	0.619000	0.37552	2.542000	0.45744	1.472000	0.48140	0.248000	0.18094	TTC	ACSM2A	-	pfam_AMP-dep_Synth/Lig		0.438	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	T	NM_001010845		20481025	1	no_errors	ENST00000219054	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20481025	T	A	20481025	3	1	159	1	0	0	0	0	1	0	0	0	183	1609	56	5	590	5	ACSM2A	16	20481025	Missense_Mutation	SNP	T	TCGA-JW-A5VK-01A-11D-A28B-09		20481025	69873728	38	28262										
TMEM98	26022	genome.wustl.edu	37	chr17	31267987	31267987	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ctcccaggccctgaaggcttCctgcaggagcagtctgcaat	11	14	1	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr17:31267987C>T	ENST00000579849.1	+	8	1088	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Silent_p.F219F	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	219						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CTGAAGGCTTCCTGCAGGAGC	0.562																																																	0													25	25	25					17																	31267987		2203	4300	6503	SO:0001819	synonymous_variant	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.657C>T	17.37:g.31267987C>T			E1P631|Q9UFK2	Silent	SNP	NULL	p.F219	ENST00000579849.1	37	c.657	CCDS11274.1	17																																																																																			TMEM98	-	NULL		0.562	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	C	NM_015544		31267987	1	no_errors	ENST00000394642	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31267987	C	T	31267987	2	4	159	1	0	0	0	0	0	0	0	1	16255	854	30	1		1	TMEM98	17	31267987	Silent	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09		31267987	49927223	39	28263										
ARHGAP27	201176	genome.wustl.edu	37	chr17	43482441	43482441	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	cctcggggtaactggtcagcGactcggggtagtccgtctcg	15	12	2	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr17:43482441G>T	ENST00000428638.1	-	3	1096	c.1097C>A	c.(1096-1098)tCg>tAg	p.S366*	ARHGAP27_ENST00000442348.1_Nonsense_Mutation_p.S366*|ARHGAP27_ENST00000532038.1_Nonsense_Mutation_p.S166*|ARHGAP27_ENST00000455881.1_Nonsense_Mutation_p.S25*|ARHGAP27_ENST00000376922.2_Nonsense_Mutation_p.S25*|ARHGAP27_ENST00000532891.2_Nonsense_Mutation_p.S366*|ARHGAP27_ENST00000528384.1_Nonsense_Mutation_p.S25*|ARHGAP27_ENST00000582826.1_5'Flank			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	366					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACTGGTCAGCGACTCGGGGTA	0.642																																																	0													34	37	36					17																	43482441		2203	4300	6503	SO:0001587	stop_gained	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1097C>A	17.37:g.43482441G>T	ENSP00000403323:p.Ser366*		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.S366*	ENST00000428638.1	37	c.1097		17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003134	0.74932	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881;ENST00000528677	.	.	.	5.15	-8.09	0.01090	.	2.046220	0.02243	N	0.065972	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2165	0.43170	0.3135:0.0:0.5779:0.1086	.	.	.	.	X	166;25;25;366;366;366;25;109	.	ENSP00000366121:S25X	S	-	2	0	ARHGAP27	40838224	0.000000	0.05858	0.000000	0.03702	0.752000	0.42762	-0.515000	0.06290	-1.199000	0.02666	-0.355000	0.07637	TCG	ARHGAP27	-	NULL		0.642	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		G	NM_199282		43482441	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	43482441	G	T	43482441	4	4	159	1	0	0	0	0	0	1	0	0	876	1059	37	3	1632	3	ARHGAP27	17	43482441	Nonsense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	12214454	43482441	37712769	40	28264										
SYT4	6860	genome.wustl.edu	37	chr18	40853812	40853812	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tctgggaggatcgtcattttGatatatgggtcagaggtcat	13	5	4	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr18:40853812G>T	ENST00000255224.3	-	2	950	c.582C>A	c.(580-582)atC>atA	p.I194I	SYT4_ENST00000590752.1_Silent_p.I176I|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	194	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCGTCATTTTGATATATGGGT	0.433																																					NSCLC(85;81 1419 2855 22820 35912)												0													84	82	83					18																	40853812		2203	4300	6503	SO:0001819	synonymous_variant	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.582C>A	18.37:g.40853812G>T			B4DEU3|Q9P2K4	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.I194	ENST00000255224.3	37	c.582	CCDS11922.1	18																																																																																			SYT4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.433	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	G	NM_020783		40853812	-1	no_errors	ENST00000255224	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40853812	G	T	40853812	2	4	159	1	0	0	0	0	0	0	0	1	15506	1280	45	3		3	SYT4	18	40853812	Silent	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09		40853812	37223436	41	28265										
KEAP1	9817	genome.wustl.edu	37	chr19	10602878	10602878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gcgcacgttcaggtcgtcccGgctgatgagggtcaccagtt	14	12	2	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:10602878G>A	ENST00000171111.5	-	3	1247	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.R234W|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	234	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGGTCGTCCCGGCTGATGAGG	0.612																																																	0													66	55	59					19																	10602878		2203	4300	6503	SO:0001583	missense	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.700C>T	19.37:g.10602878G>A	ENSP00000171111:p.Arg234Trp		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R234W	ENST00000171111.5	37	c.700	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396071	0.62177	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70399	-0.48;-0.48	5.84	1.08	0.20341	BTB/Kelch-associated (2);	0.171215	0.49916	D	0.000134	T	0.78767	0.4335	L	0.58810	1.83	0.48975	D	0.999731	D	0.76494	0.999	D	0.65987	0.94	T	0.79215	-0.1895	10	0.72032	D	0.01	.	14.1659	0.65475	0.0:0.0:0.5261:0.4739	.	234	Q14145	KEAP1_HUMAN	W	234	ENSP00000171111:R234W;ENSP00000377245:R234W	ENSP00000171111:R234W	R	-	1	2	KEAP1	10463878	1.000000	0.71417	0.627000	0.29227	0.674000	0.39518	1.564000	0.36375	0.054000	0.16065	-0.277000	0.10078	CGG	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	G	NM_012289		10602878	-1	no_errors	ENST00000171111	ensembl	human	known	70_37	missense	SNP	0.994	A	A	10602878	G	A	10602878	3	1	159	1	0	0	0	0	1	0	0	0	8161	1115	39	2	1190	2	KEAP1	19	10602878	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09		10602878	48526105	42	28266										
ZNF491	126069	genome.wustl.edu	37	chr19	11917970	11917971	+	Frame_Shift_Ins	INS	-	-	T													0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tccatatatattagaatacaINStgaaagaattcacactggag					rs116584868	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:11917970_11917971insT	ENST00000323169.5	+	3	1533_1534	c.1202_1203insT	c.(1201-1206)catgaafs	p.E402fs	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATTAGAATACATGAAAGAATTC	0.386																																																	0																																										SO:0001589	frameshift_variant	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1203dupT	19.37:g.11917971_11917971dupT	ENSP00000313443:p.Glu402fs		Q3MJ35|Q8NAT8	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E402fs	ENST00000323169.5	37	c.1202_1203	CCDS12267.1	19																																																																																			ZNF491	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.386	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	-	NM_152356		11917971	1	no_errors	ENST00000323169	ensembl	human	known	70_37	frame_shift_ins	INS	0.047:0.010	T	T	11917971	-	T	11917970	7	5	159	1	0	1	1	0	0	0	0	0	17972	217	8	0	1204	0	ZNF491	19	11917970	Frame_Shift_Ins	INS	-	TCGA-JW-A5VK-01A-11D-A28B-09	1315092	11917970	47211013	43	28267										
DDX39	10212	genome.wustl.edu	37	chr19	14520640	14520640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	gacgtagtactgctgcaggcCgtgcagcgtgagcttggtct	15	10	1	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:14520640C>T	ENST00000242776.4	-	7	879	c.778G>A	c.(778-780)Ggc>Agc	p.G260S	DDX39A_ENST00000592927.1_5'UTR|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	260	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGCTGCAGGCCGTGCAGCGTG	0.562																																																	0													96	85	89					19																	14520640		2203	4300	6503	SO:0001583	missense	10212			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.778G>A	19.37:g.14520640C>T	ENSP00000242776:p.Gly260Ser		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G260S	ENST00000242776.4	37	c.778	CCDS12308.1	19	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933904	0.92458	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340	T;T	0.05717	3.54;3.4	4.82	4.82	0.62117	Helicase, C-terminal (1);DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.62154	1.92	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.00317	-1.1822	10	0.66056	D	0.02	-23.4827	15.3718	0.74570	0.0:1.0:0.0:0.0	.	260	O00148	DX39A_HUMAN	S	303;260;260	ENSP00000242776:G260S;ENSP00000322749:G260S	ENSP00000242776:G260S	G	-	1	0	DDX39A	14381640	1.000000	0.71417	0.702000	0.30337	0.944000	0.59088	7.358000	0.79466	2.226000	0.72624	0.561000	0.74099	GGC	DDX39A	-	smart_Helicase_ATP-bd,pfscan_Helicase_C		0.562	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	C	NM_138998		14520640	-1	no_errors	ENST00000242776	ensembl	human	known	70_37	missense	SNP	0.999	T	T	14520640	C	T	14520640	3	4	159	1	0	0	0	0	1	0	0	0	4362	652	23	2	525	2	DDX39	19	14520640	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	2602670	14520640	44608343	44	28268										
IGLON5	402665	genome.wustl.edu	37	chr19	51831094	51831094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	tacggcaactatacgtgtcgCgccgccaaccgactgggagc	12	14	0	0			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:51831094C>T	ENST00000270642.8	+	7	876	c.876C>T	c.(874-876)cgC>cgT	p.R292R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	292	Ig-like C2-type 3.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						ATACGTGTCGCGCCGCCAACC	0.726																																																	0													9	10	10					19																	51831094		1853	3943	5796	SO:0001819	synonymous_variant	402665				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.876C>T	19.37:g.51831094C>T				Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R292	ENST00000270642.8	37	c.876	CCDS46158.1	19																																																																																			IGLON5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.726	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLON5	HGNC	protein_coding	OTTHUMT00000335149.1	C	NM_001101372		51831094	1	no_errors	ENST00000270642	ensembl	human	known	70_37	silent	SNP	0.991	T	T	51831094	C	T	51831094	2	4	159	1	0	0	0	0	0	0	0	1	7615	755	27	2		2	IGLON5	19	51831094	Silent	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	37310454	51831094	7297889	45	28269										
RALGAPA2	57186	genome.wustl.edu	37	chr20	20621380	20621380	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	ggctgggattgatgagtgtcTccagtgtgcaagggcccctg	16	9	1	2			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr20:20621380T>A	ENST00000202677.7	-	6	522	c.515A>T	c.(514-516)gAg>gTg	p.E172V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	172					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GATGAGTGTCTCCAGTGTGCA	0.468																																																	0													100	100	100					20																	20621380		1922	4135	6057	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.515A>T	20.37:g.20621380T>A	ENSP00000202677:p.Glu172Val		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E172V	ENST00000202677.7	37	c.515	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411197	0.62399	.	.	ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	T;T;T	0.78481	-1.18;-1.18;-1.18	5.62	5.62	0.85841	.	0.112845	0.64402	U	0.000020	T	0.69260	0.3091	L	0.29908	0.895	0.51012	D	0.999905	B	0.18166	0.026	B	0.15052	0.012	T	0.65784	-0.6084	10	0.52906	T	0.07	.	15.8247	0.78690	0.0:0.0:0.0:1.0	.	172	Q2PPJ7	RGPA2_HUMAN	V	172;24;24;172	ENSP00000202677:E172V;ENSP00000400901:E24V;ENSP00000412795:E172V	ENSP00000202677:E172V	E	-	2	0	RALGAPA2	20569380	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.520000	0.81821	2.151000	0.67156	0.482000	0.46254	GAG	RALGAPA2	-	NULL		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	T	NM_020343		20621380	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20621380	T	A	20621380	3	1	159	1	0	0	0	0	1	0	0	0	13044	1551	54	5	5242	5	RALGAPA2	20	20621380	Missense_Mutation	SNP	T	TCGA-JW-A5VK-01A-11D-A28B-09		20621380	42404140	46	28270										
CBLN4	140689	genome.wustl.edu	37	chr20	54573720	54573720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	atcctctttatctaggtagaGcaggacaccattcgtggcag	10	10	2	1			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr20:54573720G>A	ENST00000064571.2	-	3	1799	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	167	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTAGGTAGAGCAGGACACCA	0.438																																																	0													106	96	100					20																	54573720		2203	4300	6503	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.499C>T	20.37:g.54573720G>A	ENSP00000064571:p.Leu167Phe		A8K0S5	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L167F	ENST00000064571.2	37	c.499	CCDS13448.1	20	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308282	0.40895	.	.	ENSG00000054803	ENST00000064571	D	0.83250	-1.7	5.48	3.54	0.40534	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	H	0.94886	3.595	0.58432	D	0.99999	D	0.63880	0.993	P	0.62740	0.906	D	0.90067	0.4160	10	0.72032	D	0.01	-18.0529	6.9154	0.24357	0.1445:0.0:0.7155:0.14	.	167	Q9NTU7	CBLN4_HUMAN	F	167	ENSP00000064571:L167F	ENSP00000064571:L167F	L	-	1	0	CBLN4	54007127	1.000000	0.71417	0.087000	0.20705	0.616000	0.37450	3.253000	0.51469	0.686000	0.31488	0.491000	0.48974	CTC	CBLN4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.438	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN4	HGNC	protein_coding	OTTHUMT00000079783.2	G	NM_080617		54573720	-1	no_errors	ENST00000064571	ensembl	human	known	70_37	missense	SNP	0.721	A	A	54573720	G	A	54573720	3	1	159	1	0	0	0	0	1	0	0	0	2712	971	34	4	110	4	CBLN4	20	54573720	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09	33952340	54573720	8451800	47	28271										
FAM47A	158724	genome.wustl.edu	37	chrX	34148844	34148844	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	agtcttgggaggctccgagcGgagactggacgtccgacgag	17	10	1	1	rs17855514		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrX:34148844G>C	ENST00000346193.3	-	1	1603	c.1552C>G	c.(1552-1554)Cgc>Ggc	p.R518G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	518										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGAGCGGAGACTGGAC	0.657																																																	0													27	27	27					X																	34148844		2183	4264	6447	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1552C>G	X.37:g.34148844G>C	ENSP00000345029:p.Arg518Gly		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R518G	ENST00000346193.3	37	c.1552	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	g	4.430	0.079632	0.08533	.	.	ENSG00000185448	ENST00000346193	T	0.13778	2.56	0.494	0.494	0.16884	.	.	.	.	.	T	0.10895	0.0266	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	8	0.14656	T	0.56	.	.	.	.	rs17855514	518	Q5JRC9	FA47A_HUMAN	G	518	ENSP00000345029:R518G	ENSP00000345029:R518G	R	-	1	0	FAM47A	34058765	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	2.017000	0.40981	0.471000	0.27319	0.271000	0.19318	CGC	FAM47A	-	NULL		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	G	NM_203408		34148844	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	missense	SNP	0.005	C	C	34148844	G	C	34148844	3	2	159	1	0	0	0	0	1	0	0	0	5587	1116	39	2	827	2	FAM47A	23	34148844	Missense_Mutation	SNP	G	TCGA-JW-A5VK-01A-11D-A28B-09		34148844	121121716	48	28272										
NYX	60506	genome.wustl.edu	37	chrX	41333923	41333923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	3	0.886277743782615	0.72	0	0.848571428571429	0.166666666666667	0.380392156862746	0	aggcccgtccccagaaccagCggccaccaccgtgagcaggt	12	17	0	2	rs34169326	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrX:41333923C>T	ENST00000342595.2	+	2	1673	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	NYX_ENST00000378220.1_Missense_Mutation_p.A406V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	406			A -> G (in dbSNP:rs34169326).		response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CCAGAACCAGCGGCCACCACC	0.692																																																	0													17	19	18					X																	41333923		2191	4281	6472	SO:0001583	missense	60506			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1217C>T	X.37:g.41333923C>T	ENSP00000340328:p.Ala406Val		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A406V	ENST00000342595.2	37	c.1217	CCDS14256.1	X	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.981483	0.02197	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.59083	0.29;0.29	5.68	-1.34	0.09143	.	1.196500	0.06290	N	0.699036	T	0.43433	0.1247	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14727	-1.0462	10	0.26408	T	0.33	.	1.3461	0.02164	0.3843:0.1726:0.0899:0.3532	.	406	Q9GZU5	NYX_HUMAN	V	406	ENSP00000340328:A406V;ENSP00000367465:A406V	ENSP00000340328:A406V	A	+	2	0	NYX	41218867	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-1.452000	0.02385	-0.860000	0.04099	-0.318000	0.08688	GCG	NYX	-	NULL		0.692	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1	C	NM_022567		41333923	1	no_errors	ENST00000342595	ensembl	human	known	70_37	missense	SNP	0.000	T	T	41333923	C	T	41333923	3	4	159	1	0	0	0	0	1	0	0	0	10821	768	27	2	1223	2	NYX	23	41333923	Missense_Mutation	SNP	C	TCGA-JW-A5VK-01A-11D-A28B-09	7185079	41333923	113936637	49	28273										
NOC2L	26155	genome.wustl.edu	37	chr1	894355	894355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccggactccgggcagcctCgcgtgcttcccgtgtctccg	12	17	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:894355C>G	ENST00000327044.6	-	2	182	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	45					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGGGCAGCCTCGCGTGCTTCC	0.642																																																	0													25	28	27					1																	894355		2199	4296	6495	SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.133G>C	1.37:g.894355C>G	ENSP00000317992:p.Glu45Gln		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	pfam_UPF0120,superfamily_ARM-type_fold	p.E45Q	ENST00000327044.6	37	c.133	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306787	0.23821	.	.	ENSG00000188976	ENST00000327044	T	0.24151	1.87	4.53	-1.5	0.08691	.	1.919610	0.03090	N	0.159671	T	0.15739	0.0379	L	0.38838	1.175	0.09310	N	1	P;P	0.45240	0.854;0.854	B;B	0.36464	0.225;0.225	T	0.20107	-1.0285	10	0.14252	T	0.57	0.4151	4.362	0.11206	0.0:0.3912:0.3161:0.2926	.	45;45	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	Q	45	ENSP00000317992:E45Q	ENSP00000317992:E45Q	E	-	1	0	NOC2L	884218	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.146000	0.10250	-0.150000	0.11195	0.462000	0.41574	GAG	NOC2L	-	NULL		0.642	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	C	NM_015658		894355	-1	no_errors	ENST00000327044	ensembl	human	known	70_37	missense	SNP	0.000	G	G	894355	C	G	894355	3	3	160	1	0	0	0	0	1	0	0	0	10537	893	31	1	2188	1	NOC2L	1	894355	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		894355	248356266	1	28274										
HES4	57801	genome.wustl.edu	37	chr1	934943	934943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcaggctccgcaggtgtctCacggtcatctccaggatgtc	12	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:934943C>T	ENST00000304952.6	-	3	392	c.255G>A	c.(253-255)gtG>gtA	p.V85V	HES4_ENST00000484667.2_Silent_p.V53V|RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000428771.2_Silent_p.V111V			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	85	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGGTGTCTCACGGTCATCT	0.736																																																	0													12	16	15					1																	934943		2158	4259	6417	SO:0001819	synonymous_variant	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"Basic helix-loop-helix proteins"	24149	protein-coding gene	gene with protein product		608060	"hairy and enhancer of split 4 (Drosophila)"			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.255G>A	1.37:g.934943C>T			Q5SVA5	Silent	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.V111	ENST00000304952.6	37	c.333	CCDS5.1	1																																																																																			HES4	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.736	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES4	HGNC	protein_coding	OTTHUMT00000097944.1	C	NM_021170		934943	-1	no_errors	ENST00000428771	ensembl	human	known	70_37	silent	SNP	0.994	T	T	934943	C	T	934943	2	4	160	1	0	0	0	0	0	0	0	1	7088	813	29	1		1	HES4	1	934943	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	40588	934943	248315678	2	28275										
TNFRSF18	8784	genome.wustl.edu	37	chr1	1139439	1139439	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccacatgcactgactcctCagctgccagatgtgcagtcc	10	15	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1139439C>T	ENST00000379268.2	-	4	695	c.576G>A	c.(574-576)ctG>ctA	p.L192L	TNFRSF18_ENST00000379265.5_Silent_p.L192L|TNFRSF18_ENST00000328596.6_Intron|TNFRSF18_ENST00000486728.1_Silent_p.L120L	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	192					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACTGACTCCTCAGCTGCCAGA	0.692																																					GBM(157;472 1934 13810 14591 35952)												0													18	20	19					1																	1139439		2180	4289	6469	SO:0001819	synonymous_variant	8784			AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.576G>A	1.37:g.1139439C>T			B1AME1|O95851|Q5U0I4|Q9NYJ9	Silent	SNP	smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_18	p.L192	ENST00000379268.2	37	c.576	CCDS10.1	1																																																																																			TNFRSF18	-	NULL		0.692	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF18	HGNC	protein_coding	OTTHUMT00000004083.2	C	NM_004195		1139439	-1	no_errors	ENST00000379268	ensembl	human	known	70_37	silent	SNP	0.940	T	T	1139439	C	T	1139439	2	4	160	1	0	0	0	0	0	0	0	1	16321	813	29	1		1	TNFRSF18	1	1139439	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	204496	1139439	248111182	3	28276										
DVL1	1855	genome.wustl.edu	37	chr1	1273930	1273930	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcattggcgatggtgatcttGagccacatgcggtcgcggat	15	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1273930G>C	ENST00000378888.5	-	12	1595	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	DVL1_ENST00000378891.5_Silent_p.L412L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	437	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.L412L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGTGATCTTGAGCCACATGC	0.672																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											57	55	56					1																	1273930		2202	4296	6498	SO:0001819	synonymous_variant	1855			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1311C>G	1.37:g.1273930G>C			Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.L437	ENST00000378888.5	37	c.1311		1																																																																																			DVL1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	G	NM_004421		1273930	-1	no_errors	ENST00000378888	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1273930	G	C	1273930	2	2	160	1	0	0	0	0	0	0	0	1	4845	1277	45	1		1	DVL1	1	1273930	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	134491	1273930	247976691	4	28277										
ATAD3C	219293	genome.wustl.edu	37	chr1	1398013	1398013	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccagtttgactacgggagGaagtgcttagagatcgctcg	14	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1398013G>A	ENST00000378785.2	+	11	2009	c.1014G>A	c.(1012-1014)agG>agA	p.R338R		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	338							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTACGGGAGGAAGTGCTTAG	0.642																																																	0													56	54	55					1																	1398013		2201	4289	6490	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1014G>A	1.37:g.1398013G>A			Q8N1Z5	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.R338	ENST00000378785.2	37	c.1014	CCDS44039.1	1																																																																																			ATAD3C	-	NULL		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	HGNC	protein_coding	OTTHUMT00000001279.3	G	NM_001039211		1398013	1	no_errors	ENST00000378785	ensembl	human	known	70_37	silent	SNP	0.999	A	A	1398013	G	A	1398013	2	1	160	1	0	0	0	0	0	0	0	1	1076	1165	41	1		1	ATAD3C	1	1398013	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	124083	1398013	247852608	5	28278										
KIAA1751	85452	genome.wustl.edu	37	chr1	1896478	1896478	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtcccgcccacgggctttCggtccacgtcctccttgggc	11	17	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1896478C>T								TMEM52 (45766 upstream) : C1orf222 (23084 downstream)																							CACGGGCTTTCGGTCCACGTC	0.692																																																	0													34	36	35					1																	1896478		2009	4177	6186	SO:0001628	intergenic_variant	85452																															1.37:g.1896478C>T				Missense_Mutation	SNP	NULL	p.R475Q		37	c.1424		1	.	.	.	.	.	.	.	.	.	.	c	6.459	0.452789	0.12283	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	-0.886	0.10590	.	0.617089	0.13721	N	0.367379	T	0.13798	0.0334	L	0.40543	1.245	0.09310	N	1	P;P	0.45283	0.855;0.535	B;B	0.30029	0.11;0.049	T	0.30297	-0.9983	9	0.13853	T	0.58	-12.7416	5.0088	0.14302	0.1396:0.4206:0.0:0.4398	.	475;475	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	Q	475	.	ENSP00000270720:R475Q	R	-	2	0	C1orf222	1886338	0.000000	0.05858	0.251000	0.24312	0.057000	0.15508	-0.827000	0.04424	-0.115000	0.11915	-0.261000	0.10672	CGA	C1orf222	-	NULL	0	0.692					C1orf222	HGNC			C			1896478	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.018	T	T	1896478	C	T	1896478	1	4	160	0	1	0	0	0	0	0	0	0	8276	884	31	1		1	KIAA1751	1	1896478	IGR	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	498465	1896478	247354143	6	28279										
KIAA1751	85452	genome.wustl.edu	37	chr1	1916830	1916830	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcacaccgactcactcgctCtccttcagcacggcctcagt	7	18	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:1916830C>G	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCACTCGCTCTCCTTCAGCA	0.657																																																	0													65	71	69					1																	1916830		2115	4218	6333	SO:0001628	intergenic_variant	85452																															1.37:g.1916830C>G				Missense_Mutation	SNP	NULL	p.E165D	ENST00000434971.2	37	c.495		1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579282	0.28180	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.73	-0.759	0.11045	.	0.937063	0.08771	N	0.896224	T	0.25531	0.0621	N	0.25647	0.755	0.19775	N	0.999959	B;B	0.17465	0.022;0.011	B;B	0.15484	0.013;0.007	T	0.22556	-1.0213	9	0.29301	T	0.29	-6.1296	4.9163	0.13847	0.0:0.4643:0.3279:0.2078	.	165;165	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	D	165	.	ENSP00000270720:E165D	E	-	3	2	C1orf222	1906690	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	-0.326000	0.07965	-0.262000	0.09392	0.313000	0.20887	GAG	C1orf222	-	NULL		0.657	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		C			1916830	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.044	G	G	1916830	C	G	1916830	1	3	160	0	1	0	0	0	0	0	0	0	8276	912	32	1		1	KIAA1751	1	1916830	IGR	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	20352	1916830	247333791	7	28280										
TNFRSF14	8764	genome.wustl.edu	37	chr1	2493180	2493180	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgggtatggtggtttctctCagggagcctcgtcatcgtca	13	10	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:2493180C>G	ENST00000355716.4	+	6	919	c.620C>G	c.(619-621)tCa>tGa	p.S207*		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	207					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		TGGTTTCTCTCAGGGAGCCTC	0.607			"Mis, N, F"		follicular lymphoma																																			Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	0													101	91	94					1																	2493180		2203	4300	6503	SO:0001587	stop_gained	8764			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.620C>G	1.37:g.2493180C>G	ENSP00000347948:p.Ser207*		B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt	p.S207*	ENST00000355716.4	37	c.620	CCDS44046.1	1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406861	0.62399	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	.	.	.	1.92	-1.71	0.08133	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	0.8984	5.5015	0.16831	0.0:0.5236:0.0:0.4764	.	.	.	.	X	207	.	ENSP00000347948:S207X	S	+	2	0	TNFRSF14	2481238	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.259000	0.02861	-0.429000	0.07329	0.205000	0.17691	TCA	TNFRSF14	-	NULL		0.607	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF14	HGNC	protein_coding	OTTHUMT00000002088.1	C			2493180	1	no_errors	ENST00000355716	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	2493180	C	G	2493180	4	3	160	1	0	0	0	0	0	1	0	0	16319	838	29	1	642	1	TNFRSF14	1	2493180	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	576350	2493180	246757441	8	28281										
ARHGEF16	27237	genome.wustl.edu	37	chr1	3392570	3392570	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgagggggcccacaggatgGagcgcatggagcagatgtac	17	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:3392570G>C	ENST00000378378.4	+	10	1822	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E185Q|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E177Q|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E185Q	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	473	Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCACAGGATGGAGCGCATGGA	0.642																																																	0													114	85	95					1																	3392570		2152	4240	6392	SO:0001583	missense	27237			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1417G>C	1.37:g.3392570G>C	ENSP00000367629:p.Glu473Gln		Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E473Q	ENST00000378378.4	37	c.1417	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800623	0.90538	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000418137;ENST00000413250	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.42	4.42	0.53409	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.55743	1.74	0.80722	D	1	P;P	0.45672	0.864;0.691	P;B	0.46885	0.53;0.259	T	0.54951	-0.8216	10	0.66056	D	0.02	-29.3127	16.616	0.84916	0.0:0.0:1.0:0.0	.	177;473	B4DJM7;Q5VV41	.;ARHGG_HUMAN	Q	473;185;185;177;177	ENSP00000367629:E473Q;ENSP00000367624:E185Q;ENSP00000367622:E185Q;ENSP00000390853:E177Q;ENSP00000408887:E177Q	ENSP00000367622:E185Q	E	+	1	0	ARHGEF16	3382430	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.287000	0.78681	2.019000	0.59389	0.491000	0.48974	GAG	ARHGEF16	-	superfamily_DH-domain		0.642	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	G	NM_014448		3392570	1	no_errors	ENST00000378378	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3392570	G	C	3392570	3	2	160	1	0	0	0	0	1	0	0	0	899	1175	41	1	1451	1	ARHGEF16	1	3392570	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	899390	3392570	245858051	9	28282										
ACOT7	11332	genome.wustl.edu	37	chr1	6409872	6409872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcctcctcgatcatcttcagGatggtccccccgtggacatt	9	15	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:6409872G>C	ENST00000377855.2	-	2	374	c.228C>G	c.(226-228)atC>atG	p.I76M	ACOT7_ENST00000377845.3_Missense_Mutation_p.I46M|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000608083.1_Missense_Mutation_p.I34M|ACOT7_ENST00000541130.1_Missense_Mutation_p.I46M|ACOT7_ENST00000377842.3_Missense_Mutation_p.I25M|ACOT7_ENST00000361521.4_Missense_Mutation_p.I66M	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	76	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCATCTTCAGGATGGTCCCCC	0.622																																					GBM(74;673 1226 4974 11850 13190)												0													67	56	60					1																	6409872		2203	4300	6503	SO:0001583	missense	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.228C>G	1.37:g.6409872G>C	ENSP00000367086:p.Ile76Met		A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	pfam_Thioestr_supf	p.I76M	ENST00000377855.2	37	c.228	CCDS65.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136740	0.56936	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.48	1.85	0.25348	Thioesterase superfamily (1);	0.063063	0.64402	D	0.000008	T	0.39989	0.1099	M	0.62209	1.925	0.34848	D	0.741398	P;P;B;P	0.44380	0.71;0.6;0.309;0.834	P;D;B;P	0.65987	0.671;0.94;0.368;0.864	T	0.47209	-0.9135	10	0.45353	T	0.12	.	5.0466	0.14487	0.4727:0.0:0.5273:0.0	.	66;76;46;25	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	M	76;46;25;66;46	ENSP00000367086:I76M;ENSP00000367076:I46M;ENSP00000367073:I25M;ENSP00000354615:I66M;ENSP00000441872:I46M	ENSP00000354615:I66M	I	-	3	3	ACOT7	6332459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.229000	0.42990	0.781000	0.33589	0.650000	0.86243	ATC	ACOT7	-	pfam_Thioestr_supf		0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	G	NM_007274		6409872	-1	no_errors	ENST00000377855	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6409872	G	C	6409872	3	2	160	1	0	0	0	0	1	0	0	0	155	1164	41	1	946	1	ACOT7	1	6409872	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3017302	6409872	242840749	10	28283										
ESPN	83715	genome.wustl.edu	37	chr1	6511968	6511968	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccgccagctgcggggtttCagccgctgctcaatggaagc	13	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:6511968C>T	ENST00000377828.1	+	10	2305	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Nonsense_Mutation_p.Q147*|ESPN_ENST00000461727.1_Nonsense_Mutation_p.Q147*	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	713	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGGGGTTTCAGCCGCTGCT	0.662																																																	0													18	20	19					1																	6511968		2202	4299	6501	SO:0001587	stop_gained	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2137C>T	1.37:g.6511968C>T	ENSP00000367059:p.Gln713*		Q6XYB2|Q9H0A2|Q9Y329	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.Q713*	ENST00000377828.1	37	c.2137	CCDS70.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.32|14.32	2.498915|2.498915	0.44455|0.44455	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	.|.	.|.	.|.	5.14|5.14	4.22|4.22	0.49857|0.49857	.|.	0.455646|.	0.24818|.	N|.	0.035349|.	.|T	.|0.51329	.|0.1668	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|3	0.13853|.	T|.	0.58|.	-17.191|-17.191	8.8947|8.8947	0.35455|0.35455	0.1683:0.6692:0.1625:0.0|0.1683:0.6692:0.1625:0.0	.|.	.|.	.|.	.|.	X|L	713;147|56	.|.	ENSP00000367059:Q713X|.	Q|S	+|+	1|2	0|0	ESPN|ESPN	6434555|6434555	0.500000|0.500000	0.26091|0.26091	0.936000|0.936000	0.37596|0.37596	0.136000|0.136000	0.21042|0.21042	3.158000|3.158000	0.50723|0.50723	1.157000|1.157000	0.42530|0.42530	0.491000|0.491000	0.48974|0.48974	CAG|TCA	ESPN	-	NULL		0.662	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	C	NM_031475		6511968	1	no_errors	ENST00000377828	ensembl	human	known	70_37	nonsense	SNP	0.994	T	T	6511968	C	T	6511968	4	4	160	1	0	0	0	0	0	1	0	0	5266	827	29	1	2175	1	ESPN	1	6511968	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	102096	6511968	242738653	11	28284										
RERE	473	genome.wustl.edu	37	chr1	8568728	8568728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctccccctgggtactgttCagcctcctggaacagaaata	8	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:8568728C>T	ENST00000337907.3	-	9	1471	c.837G>A	c.(835-837)ctG>ctA	p.L279L	RERE_ENST00000400907.2_Silent_p.L279L|RERE_ENST00000377464.1_Silent_p.L11L|RERE_ENST00000400908.2_Silent_p.L279L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	279	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTACTGTTCAGCCTCCTGG	0.373																																																	0													105	96	99					1																	8568728		2203	4300	6503	SO:0001819	synonymous_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.837G>A	1.37:g.8568728C>T			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.L279	ENST00000337907.3	37	c.837	CCDS95.1	1																																																																																			RERE	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.373	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	C			8568728	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8568728	C	T	8568728	2	4	160	1	0	0	0	0	0	0	0	1	13261	813	29	1		1	RERE	1	8568728	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2056760	8568728	240681893	12	28285										
CTNNBIP1	56998	genome.wustl.edu	37	chr1	9931320	9931320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataggtgcgcaggaactcctCctcgctggctgtcagctgca	12	13	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:9931320C>G	ENST00000377263.1	-	5	423	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	CTNNBIP1_ENST00000400904.3_Missense_Mutation_p.E38Q|CTNNBIP1_ENST00000537447.1_Missense_Mutation_p.E38Q|CTNNBIP1_ENST00000377256.1_Missense_Mutation_p.E38Q|CTNNBIP1_ENST00000377258.1_Missense_Mutation_p.E38Q	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	38					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAACTCCTCCTCGCTGGCT	0.657																																																	0													65	50	55					1																	9931320		2200	4292	6492	SO:0001583	missense	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4"	607758	"catenin, beta-interacting protein 1"			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.112G>C	1.37:g.9931320C>G	ENSP00000366474:p.Glu38Gln		Q5T4V2	Missense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.E38Q	ENST00000377263.1	37	c.112	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484872	0.63962	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	U	0.000000	T	0.78811	0.4342	.	.	.	0.80722	D	1	D	0.56287	0.975	D	0.74023	0.982	T	0.79492	-0.1781	7	.	.	.	-20.1915	17.1645	0.86811	0.0:1.0:0.0:0.0	.	38	Q9NSA3	CNBP1_HUMAN	Q	38	.	.	E	-	1	0	CTNNBIP1	9853907	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.137000	0.77295	2.344000	0.79699	0.313000	0.20887	GAG	CTNNBIP1	-	pfam_ICAT,superfamily_ICAT		0.657	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	C	NM_020248		9931320	-1	no_errors	ENST00000377256	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9931320	C	G	9931320	3	3	160	1	0	0	0	0	1	0	0	0	4022	864	30	1	141	1	CTNNBIP1	1	9931320	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1362592	9931320	239319301	13	28286										
EXOSC10	5394	genome.wustl.edu	37	chr1	11140942	11140942	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atagagttcaaggtaggactCatccgtgaagataggtttga	12	5	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11140942C>G	ENST00000376936.4	-	12	1514	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	EXOSC10_ENST00000544779.1_Missense_Mutation_p.E489Q|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.E489Q	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	489					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGGTAGGACTCATCCGTGAAG	0.433																																					Colon(179;105 1987 14326 27364 29542)												0													138	143	141					1																	11140942		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1465G>C	1.37:g.11140942C>G	ENSP00000366135:p.Glu489Gln		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.E489Q	ENST00000376936.4	37	c.1465	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382212	0.61845	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.74	5.74	0.90152	HRDC-like (1);	0.257794	0.45867	D	0.000326	T	0.71426	0.3338	M	0.71036	2.16	0.80722	D	1	B;B	0.26602	0.078;0.154	B;B	0.34093	0.175;0.085	T	0.67810	-0.5574	9	0.44086	T	0.13	-36.9989	19.2859	0.94069	0.0:1.0:0.0:0.0	.	489;489	Q01780-2;Q01780	.;EXOSX_HUMAN	Q	489	.	ENSP00000307307:E489Q	E	-	1	0	EXOSC10	11063529	1.000000	0.71417	0.988000	0.46212	0.603000	0.37013	6.044000	0.71012	2.873000	0.98535	0.563000	0.77884	GAG	EXOSC10	-	superfamily_HRDC-like		0.433	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	C	NM_001001998		11140942	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11140942	C	G	11140942	3	3	160	1	0	0	0	0	1	0	0	0	5326	835	29	1	1248	1	EXOSC10	1	11140942	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1209622	11140942	238109679	14	28287										
EXOSC10	5394	genome.wustl.edu	37	chr1	11141160	11141160	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgaggcagatgtccctgctCcgttgccacaccacctgcag	10	15	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11141160C>G	ENST00000376936.4	-	11	1465	c.1416G>C	c.(1414-1416)cgG>cgC	p.R472R	EXOSC10_ENST00000544779.1_Silent_p.R472R|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Silent_p.R472R	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	472					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGTCCCTGCTCCGTTGCCACA	0.567																																					Colon(179;105 1987 14326 27364 29542)												0													51	45	47					1																	11141160		2203	4300	6503	SO:0001819	synonymous_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1416G>C	1.37:g.11141160C>G			B1AKQ0|B1AKQ1|Q15158	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.R472	ENST00000376936.4	37	c.1416	CCDS30584.1	1																																																																																			EXOSC10	-	superfamily_RNaseH-like_dom		0.567	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	C	NM_001001998		11141160	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	silent	SNP	0.979	G	G	11141160	C	G	11141160	2	3	160	1	0	0	0	0	0	0	0	1	5326	842	30	1		1	EXOSC10	1	11141160	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	218	11141160	238109461	15	28288										
MTOR	2475	genome.wustl.edu	37	chr1	11182125	11182125	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcagtgtgtcacagtgggGaacccagccaatgaggcccg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11182125G>A	ENST00000361445.4	-	48	6797	c.6721C>T	c.(6721-6723)Ccc>Tcc	p.P2241S	MTOR_ENST00000376838.1_Missense_Mutation_p.P446S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2241	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCACAGTGGGGAACCCAGCCA	0.537																																																	0													130	123	125					1																	11182125		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6721C>T	1.37:g.11182125G>A	ENSP00000354558:p.Pro2241Ser		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P2241S	ENST00000361445.4	37	c.6721	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908282	0.72868	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.76448	-1.02;-1.02	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	L	0.53671	1.685	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	T	0.81206	-0.1038	10	0.41790	T	0.15	-9.6011	18.7844	0.91947	0.0:0.0:1.0:0.0	.	2241	P42345	MTOR_HUMAN	S	2241;446	ENSP00000354558:P2241S;ENSP00000366034:P446S	ENSP00000354558:P2241S	P	-	1	0	MTOR	11104712	1.000000	0.71417	0.991000	0.47740	0.907000	0.53573	9.369000	0.97156	2.437000	0.82529	0.650000	0.86243	CCC	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11182125	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11182125	G	A	11182125	3	1	160	1	0	0	0	0	1	0	0	0	9977	1174	41	1	972	1	MTOR	1	11182125	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	40965	11182125	238068496	16	28289	171	2								
MTOR	2475	genome.wustl.edu	37	chr1	11182129	11182129	+	Missense_Mutation	SNP	C	C	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtgtgtcacagtggggaacCcagccaatgaggcccgagtt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11182129C>A	ENST00000361445.4	-	48	6793	c.6717G>T	c.(6715-6717)tgG>tgT	p.W2239C	MTOR_ENST00000376838.1_Missense_Mutation_p.W444C	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2239	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGTGGGGAACCCAGCCAATGA	0.532																																																	0													132	125	127					1																	11182129		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6717G>T	1.37:g.11182129C>A	ENSP00000354558:p.Trp2239Cys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.W2239C	ENST00000361445.4	37	c.6717	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382747	0.82792	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.82167	-1.58;-1.58	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95159	0.8280	10	0.87932	D	0	-18.2455	18.7844	0.91947	0.0:1.0:0.0:0.0	.	2239	P42345	MTOR_HUMAN	C	2239;444	ENSP00000354558:W2239C;ENSP00000366034:W444C	ENSP00000354558:W2239C	W	-	3	0	MTOR	11104716	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.407000	0.80029	2.437000	0.82529	0.650000	0.86243	TGG	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11182129	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11182129	C	A	11182129	3	1	160	1	0	0	0	0	1	0	0	0	9977	624	22	4	976	4	MTOR	1	11182129	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4	11182129	238068492	17	28290	171	2								
MTOR	2475	genome.wustl.edu	37	chr1	11184573	11184573	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctgaggtttttccgaagaGatgttgggtcattggccaga	13	7	1	3	rs587777894		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11184573G>A	ENST00000361445.4	-	47	6720	c.6644C>T	c.(6643-6645)tCt>tTt	p.S2215F	MTOR_ENST00000376838.1_Missense_Mutation_p.S420F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																																	4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)											101	98	99					1																	11184573		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>T	1.37:g.11184573G>A	ENSP00000354558:p.Ser2215Phe		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2215F	ENST00000361445.4	37	c.6644	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966049	0.92855	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	M	0.70595	2.14	0.80722	D	1	D	0.58970	0.984	P	0.57620	0.824	D	0.86797	0.1989	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	F	2215;420	ENSP00000354558:S2215F;ENSP00000366034:S420F	ENSP00000354558:S2215F	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11184573	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11184573	G	A	11184573	3	1	160	1	0	0	0	0	1	0	0	0	9977	942	33	1	1053	1	MTOR	1	11184573	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2444	11184573	238066048	18	28291										
MTOR	2475	genome.wustl.edu	37	chr1	11184661	11184661	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagatcttcatggccttttaGaaggaaaacaaactcatgtc	7	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11184661G>C	ENST00000361445.4	-	47	6632	c.6556C>G	c.(6556-6558)Cta>Gta	p.L2186V	MTOR_ENST00000376838.1_Missense_Mutation_p.L391V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2186	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGCCTTTTAGAAGGAAAACA	0.517																																																	0													122	100	108					1																	11184661		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6556C>G	1.37:g.11184661G>C	ENSP00000354558:p.Leu2186Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2186V	ENST00000361445.4	37	c.6556	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053646	0.75960	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.61859	0.07;0.07	5.84	5.84	0.93424	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.64402	D	0.000001	T	0.76442	0.3988	M	0.73753	2.245	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.77327	-0.2629	10	0.62326	D	0.03	-10.8389	18.3151	0.90218	0.0:0.0:1.0:0.0	.	2186	P42345	MTOR_HUMAN	V	2186;391	ENSP00000354558:L2186V;ENSP00000366034:L391V	ENSP00000354558:L2186V	L	-	1	2	MTOR	11107248	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.346000	0.59367	2.765000	0.95021	0.655000	0.94253	CTA	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11184661	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11184661	G	C	11184661	3	2	160	1	0	0	0	0	1	0	0	0	9977	933	33	1	1141	1	MTOR	1	11184661	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	88	11184661	238065960	19	28292										
MTOR	2475	genome.wustl.edu	37	chr1	11303244	11303244	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggcaaatagaccttaaactCagacctcacagccacagaaa	6	12	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:11303244C>G	ENST00000361445.4	-	9	1415	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	447	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACCTTAAACTCAGACCTCACA	0.527																																																	0													128	118	122					1																	11303244		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1339G>C	1.37:g.11303244C>G	ENSP00000354558:p.Glu447Gln		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E447Q	ENST00000361445.4	37	c.1339	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894924	0.52121	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65178	-0.14	6.11	6.11	0.99139	Armadillo-like helical (1);Armadillo-type fold (2);	0.053639	0.64402	D	0.000001	T	0.56426	0.1984	L	0.41710	1.295	0.80722	D	1	B	0.19583	0.037	B	0.20955	0.032	T	0.50127	-0.8864	10	0.15499	T	0.54	-6.9227	20.7342	0.99715	0.0:1.0:0.0:0.0	.	447	P42345	MTOR_HUMAN	Q	447	ENSP00000354558:E447Q	ENSP00000354558:E447Q	E	-	1	0	MTOR	11225831	1.000000	0.71417	0.966000	0.40874	0.925000	0.55904	7.304000	0.78882	2.906000	0.99361	0.655000	0.94253	GAG	MTOR	-	superfamily_ARM-type_fold		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11303244	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11303244	C	G	11303244	3	3	160	1	0	0	0	0	1	0	0	0	9977	835	29	1	6510	1	MTOR	1	11303244	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	118583	11303244	237947377	20	28293										
KAZ	23254	genome.wustl.edu	37	chr1	15361347	15361347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagccgcgaggagcagctccGagacttcatccgcaactatg	12	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:15361347G>A	ENST00000376030.2	+	3	815	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KAZN_ENST00000400797.3_Missense_Mutation_p.R80Q|KAZN_ENST00000503743.1_Missense_Mutation_p.R174Q|KAZN_ENST00000400798.2_Missense_Mutation_p.R80Q|KAZN_ENST00000422387.2_Missense_Mutation_p.R174Q|KAZN_ENST00000361144.5_Missense_Mutation_p.R168Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	174	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GAGCAGCTCCGAGACTTCATC	0.632																																																	0													91	86	87					1																	15361347		2203	4300	6503	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.521G>A	1.37:g.15361347G>A	ENSP00000365198:p.Arg174Gln		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R174Q	ENST00000376030.2	37	c.521	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338638	0.60963	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.77229	0.8;0.8;0.8;0.8;-1.08;-1.08;-1.08	4.73	2.84	0.33178	.	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.78049	2.395	0.53005	D	0.999964	D;P;D;D	0.76494	0.992;0.939;0.999;0.998	P;P;P;P	0.57009	0.463;0.544;0.811;0.704	T	0.78994	-0.1984	10	0.31617	T	0.26	-22.8741	9.0213	0.36202	0.0782:0.0:0.775:0.1468	.	174;80;168;174	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	Q	174;174;174;168;80;80;80	ENSP00000365198:R174Q;ENSP00000426015:R174Q;ENSP00000391728:R174Q;ENSP00000354727:R168Q;ENSP00000365196:R80Q;ENSP00000383602:R80Q;ENSP00000383601:R80Q	ENSP00000354727:R168Q	R	+	2	0	KAZN	15233934	1.000000	0.71417	0.288000	0.24862	0.629000	0.37895	9.381000	0.97205	0.535000	0.28714	-0.475000	0.04921	CGA	KAZN	-	NULL		0.632	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15361347	1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	0.985	A	A	15361347	G	A	15361347	3	1	160	1	0	0	0	0	1	0	0	0	8008	1058	37	1	743	1	KAZ	1	15361347	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4058103	15361347	233889274	21	28294										
SPEN	23013	genome.wustl.edu	37	chr1	16254826	16254826	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatattagggaatatagttaCaggcaaagggaacgagaaag	13	3	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16254826C>A	ENST00000375759.3	+	11	2295	c.2091C>A	c.(2089-2091)taC>taA	p.Y697*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	697	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AATATAGTTACAGGCAAAGGG	0.438																																																	0													114	114	114					1																	16254826		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2091C>A	1.37:g.16254826C>A	ENSP00000364912:p.Tyr697*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Y697*	ENST00000375759.3	37	c.2091	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.524875	0.98339	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.84	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3958	10.7322	0.46104	0.0:0.8638:0.0:0.1362	.	.	.	.	X	697	.	ENSP00000364912:Y697X	Y	+	3	2	SPEN	16127413	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	0.450000	0.21762	0.625000	0.30304	0.563000	0.77884	TAC	SPEN	-	NULL		0.438	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16254826	1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	16254826	C	A	16254826	4	1	160	1	0	0	0	0	0	1	0	0	15068	489	17	4	2133	4	SPEN	1	16254826	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	893479	16254826	232995795	22	28295			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16255242	16255242	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcccctagttctcagtcttCagaaacggaccaagaaaatg	7	12	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16255242C>G	ENST00000375759.3	+	11	2711	c.2507C>G	c.(2506-2508)tCa>tGa	p.S836*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	836					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S836L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCAGTCTTCAGAAACGGAC	0.448																																																	1	Substitution - Missense(1)	lung(1)											81	87	85					1																	16255242		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2507C>G	1.37:g.16255242C>G	ENSP00000364912:p.Ser836*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S836*	ENST00000375759.3	37	c.2507	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.361889	0.98777	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-11.7829	18.7522	0.91820	0.0:1.0:0.0:0.0	.	.	.	.	X	836	.	ENSP00000364912:S836X	S	+	2	0	SPEN	16127829	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.963000	0.56773	2.653000	0.90120	0.655000	0.94253	TCA	SPEN	-	NULL		0.448	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16255242	1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	16255242	C	G	16255242	4	3	160	1	0	0	0	0	0	1	0	0	15068	838	29	1	2549	1	SPEN	1	16255242	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	416	16255242	232995379	23	28296			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256108	16256108	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattagatgatcaaggaccaGagagagaagacgttaggaaa	12	4	1	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256108G>C	ENST00000375759.3	+	11	3577	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1125					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAAGGACCAGAGAGAGAAGA	0.403																																																	0													36	38	37					1																	16256108		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3373G>C	1.37:g.16256108G>C	ENSP00000364912:p.Glu1125Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1125Q	ENST00000375759.3	37	c.3373	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920064	0.17982	.	.	ENSG00000065526	ENST00000375759	T	0.10960	2.82	5.2	5.2	0.72013	.	.	.	.	.	T	0.17109	0.0411	L	0.57536	1.79	0.26004	N	0.982078	P	0.52842	0.956	P	0.46796	0.527	T	0.08953	-1.0697	9	0.33141	T	0.24	-24.4343	13.8336	0.63395	0.0:0.0:0.8472:0.1528	.	1125	Q96T58	MINT_HUMAN	Q	1125	ENSP00000364912:E1125Q	ENSP00000364912:E1125Q	E	+	1	0	SPEN	16128695	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	7.107000	0.77047	2.704000	0.92352	0.650000	0.86243	GAG	SPEN	-	NULL		0.403	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256108	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.644	C	C	16256108	G	C	16256108	3	2	160	1	0	0	0	0	1	0	0	0	15068	943	33	1	3415	1	SPEN	1	16256108	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	866	16256108	232994513	24	28297			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256255	16256255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagttaccgaaaacaaatgGaacagagtcgtaggaaacag	11	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256255G>A	ENST00000375759.3	+	11	3724	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1174					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAACAAATGGAACAGAGTCG	0.393																																																	0													58	52	54					1																	16256255		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3520G>A	1.37:g.16256255G>A	ENSP00000364912:p.Glu1174Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1174K	ENST00000375759.3	37	c.3520	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395110	0.62066	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	5.2	5.2	0.72013	.	.	.	.	.	T	0.33265	0.0857	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00792	-1.1564	9	0.44086	T	0.13	-12.1012	18.9154	0.92503	0.0:0.0:1.0:0.0	.	1174	Q96T58	MINT_HUMAN	K	1174	ENSP00000364912:E1174K	ENSP00000364912:E1174K	E	+	1	0	SPEN	16128842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.202000	0.95026	2.704000	0.92352	0.650000	0.86243	GAA	SPEN	-	NULL		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256255	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16256255	G	A	16256255	3	1	160	1	0	0	0	0	1	0	0	0	15068	1175	41	1	3562	1	SPEN	1	16256255	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	147	16256255	232994366	25	28298			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256303	16256303	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaatggaaatagccaagtctGagaagtttggcagtcctaaa	10	6	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256303G>C	ENST00000375759.3	+	11	3772	c.3568G>C	c.(3568-3570)Gag>Cag	p.E1190Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCCAAGTCTGAGAAGTTTGG	0.433																																																	0													66	60	62					1																	16256303		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3568G>C	1.37:g.16256303G>C	ENSP00000364912:p.Glu1190Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1190Q	ENST00000375759.3	37	c.3568	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294503	0.40594	.	.	ENSG00000065526	ENST00000375759	T	0.11277	2.79	5.08	5.08	0.68730	.	.	.	.	.	T	0.16171	0.0389	N	0.14661	0.345	0.40411	D	0.979748	D	0.71674	0.998	P	0.59115	0.852	T	0.11275	-1.0594	9	0.41790	T	0.15	-21.9868	18.6643	0.91483	0.0:0.0:1.0:0.0	.	1190	Q96T58	MINT_HUMAN	Q	1190	ENSP00000364912:E1190Q	ENSP00000364912:E1190Q	E	+	1	0	SPEN	16128890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.633000	0.89246	0.650000	0.86243	GAG	SPEN	-	NULL		0.433	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256303	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16256303	G	C	16256303	3	2	160	1	0	0	0	0	1	0	0	0	15068	1291	45	1	3610	1	SPEN	1	16256303	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	48	16256303	232994318	26	28299			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256501	16256501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccaaatcagcgaagattctGaaaggactggtggttctccc	11	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256501G>A	ENST00000375759.3	+	11	3970	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1256					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGAAGATTCTGAAAGGACTGG	0.468																																																	0													94	95	94					1																	16256501		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3766G>A	1.37:g.16256501G>A	ENSP00000364912:p.Glu1256Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1256K	ENST00000375759.3	37	c.3766	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107599	0.56291	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.91	4.91	0.64330	.	.	.	.	.	T	0.27489	0.0675	L	0.34521	1.04	0.58432	D	0.999994	D	0.76494	0.999	D	0.80764	0.994	T	0.01266	-1.1401	9	0.32370	T	0.25	-21.5275	18.2949	0.90141	0.0:0.0:1.0:0.0	.	1256	Q96T58	MINT_HUMAN	K	1256	ENSP00000364912:E1256K	ENSP00000364912:E1256K	E	+	1	0	SPEN	16129088	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	5.888000	0.69758	2.555000	0.86185	0.557000	0.71058	GAA	SPEN	-	NULL		0.468	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256501	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.997	A	A	16256501	G	A	16256501	3	1	160	1	0	0	0	0	1	0	0	0	15068	1291	45	1	3808	1	SPEN	1	16256501	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	198	16256501	232994120	27	28300			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256546	16256546	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccgacatggttccttccatGaagatgaggatcccataggc	10	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256546G>T	ENST00000375759.3	+	11	4015	c.3811G>T	c.(3811-3813)Gaa>Taa	p.E1271*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1271					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCCTTCCATGAAGATGAGGA	0.478																																																	0													85	89	87					1																	16256546		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3811G>T	1.37:g.16256546G>T	ENSP00000364912:p.Glu1271*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1271*	ENST00000375759.3	37	c.3811	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.574754	0.99208	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-22.692	18.546	0.91047	0.0:0.0:1.0:0.0	.	.	.	.	X	1271	.	ENSP00000364912:E1271X	E	+	1	0	SPEN	16129133	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.839000	0.92120	2.626000	0.88956	0.557000	0.71058	GAA	SPEN	-	NULL		0.478	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256546	1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	16256546	G	T	16256546	4	4	160	1	0	0	0	0	0	1	0	0	15068	1291	45	3	3853	3	SPEN	1	16256546	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	45	16256546	232994075	28	28301			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256967	16256967	+	Missense_Mutation	SNP	G	G	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcttttttattgagggacaGagaagacaagctacgtgagc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256967G>T	ENST00000375759.3	+	11	4436	c.4232G>T	c.(4231-4233)aGa>aTa	p.R1411I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1411					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGAGGGACAGAGAAGACAAG	0.408																																																	0													85	85	85					1																	16256967		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4232G>T	1.37:g.16256967G>T	ENSP00000364912:p.Arg1411Ile		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R1411I	ENST00000375759.3	37	c.4232	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806717	0.50421	.	.	ENSG00000065526	ENST00000375759	T	0.15017	2.46	5.03	5.03	0.67393	.	.	.	.	.	T	0.31104	0.0786	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.02498	-1.1150	9	0.62326	D	0.03	-17.6175	18.5656	0.91115	0.0:0.0:1.0:0.0	.	1411	Q96T58	MINT_HUMAN	I	1411	ENSP00000364912:R1411I	ENSP00000364912:R1411I	R	+	2	0	SPEN	16129554	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.108000	0.71522	2.630000	0.89119	0.563000	0.77884	AGA	SPEN	-	NULL		0.408	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256967	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16256967	G	T	16256967	3	4	160	1	0	0	0	0	1	0	0	0	15068	942	33	3	4274	3	SPEN	1	16256967	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	421	16256967	232993654	29	28302	172	2	1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16256972	16256972	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttattgagggacagagaaGacaagctacgtgagcgagat							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16256972G>A	ENST00000375759.3	+	11	4441	c.4237G>A	c.(4237-4239)Gac>Aac	p.D1413N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1413					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGACAGAGAAGACAAGCTACG	0.398																																																	0													87	86	86					1																	16256972		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4237G>A	1.37:g.16256972G>A	ENSP00000364912:p.Asp1413Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1413N	ENST00000375759.3	37	c.4237	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463550	0.26248	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.03	4.1	0.47936	.	.	.	.	.	T	0.07413	0.0187	N	0.19112	0.55	0.33065	D	0.534591	P	0.39665	0.682	B	0.32864	0.154	T	0.17501	-1.0367	9	0.32370	T	0.25	-7.7167	15.2129	0.73241	0.0:0.1462:0.8538:0.0	.	1413	Q96T58	MINT_HUMAN	N	1413	ENSP00000364912:D1413N	ENSP00000364912:D1413N	D	+	1	0	SPEN	16129559	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	5.795000	0.69074	1.320000	0.45209	0.563000	0.77884	GAC	SPEN	-	NULL		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16256972	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16256972	G	A	16256972	3	1	160	1	0	0	0	0	1	0	0	0	15068	942	33	1	4279	1	SPEN	1	16256972	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5	16256972	232993649	30	28303	172	2	1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16257044	16257044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aattttactcttttgcattgGataagacaatcacaccagac	5	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257044G>C	ENST00000375759.3	+	11	4513	c.4309G>C	c.(4309-4311)Gat>Cat	p.D1437H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1437					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTGCATTGGATAAGACAAT	0.388																																																	0													78	81	80					1																	16257044		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4309G>C	1.37:g.16257044G>C	ENSP00000364912:p.Asp1437His		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1437H	ENST00000375759.3	37	c.4309	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596436	0.46318	.	.	ENSG00000065526	ENST00000375759	T	0.33654	1.4	5.27	5.27	0.74061	.	.	.	.	.	T	0.52025	0.1709	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53711	-0.8400	9	0.87932	D	0	-19.6808	19.0911	0.93227	0.0:0.0:1.0:0.0	.	1437	Q96T58	MINT_HUMAN	H	1437	ENSP00000364912:D1437H	ENSP00000364912:D1437H	D	+	1	0	SPEN	16129631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.955000	0.93058	2.746000	0.94184	0.563000	0.77884	GAT	SPEN	-	NULL		0.388	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257044	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16257044	G	C	16257044	3	2	160	1	0	0	0	0	1	0	0	0	15068	1174	41	1	4351	1	SPEN	1	16257044	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	72	16257044	232993577	31	28304			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16257220	16257220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctattccatcctggtacatGaaaaagaagaaaattaggac	7	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257220G>A	ENST00000375759.3	+	11	4689	c.4485G>A	c.(4483-4485)atG>atA	p.M1495I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1495					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGGTACATGAAAAAGAAGA	0.388																																																	0													60	66	64					1																	16257220		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4485G>A	1.37:g.16257220G>A	ENSP00000364912:p.Met1495Ile		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.M1495I	ENST00000375759.3	37	c.4485	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897399	0.52121	.	.	ENSG00000065526	ENST00000375759	T	0.14144	2.53	5.27	5.27	0.74061	.	.	.	.	.	T	0.10981	0.0268	N	0.20986	0.625	0.80722	D	1	P	0.49185	0.92	B	0.39152	0.292	T	0.13926	-1.0491	9	0.28530	T	0.3	-21.8862	19.0911	0.93227	0.0:0.0:1.0:0.0	.	1495	Q96T58	MINT_HUMAN	I	1495	ENSP00000364912:M1495I	ENSP00000364912:M1495I	M	+	3	0	SPEN	16129807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.202000	0.95026	2.746000	0.94184	0.563000	0.77884	ATG	SPEN	-	NULL		0.388	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257220	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16257220	G	A	16257220	3	1	160	1	0	0	0	0	1	0	0	0	15068	1290	45	1	4527	1	SPEN	1	16257220	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	176	16257220	232993401	32	28305			1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16257260	16257260	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgattcagaagggaaaatgGatgataagaaagaggaccat							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257260G>A	ENST00000375759.3	+	11	4729	c.4525G>A	c.(4525-4527)Gat>Aat	p.D1509N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1509					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGAAAATGGATGATAAGAA	0.378																																																	0													71	77	75					1																	16257260		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4525G>A	1.37:g.16257260G>A	ENSP00000364912:p.Asp1509Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1509N	ENST00000375759.3	37	c.4525	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743099	0.30865	.	.	ENSG00000065526	ENST00000375759	T	0.11495	2.77	5.17	5.17	0.71159	.	.	.	.	.	T	0.12475	0.0303	L	0.27053	0.805	0.41782	D	0.989822	P	0.50066	0.931	P	0.46629	0.522	T	0.11421	-1.0588	9	0.26408	T	0.33	-7.7746	18.8556	0.92251	0.0:0.0:1.0:0.0	.	1509	Q96T58	MINT_HUMAN	N	1509	ENSP00000364912:D1509N	ENSP00000364912:D1509N	D	+	1	0	SPEN	16129847	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.001000	0.63946	2.688000	0.91661	0.563000	0.77884	GAT	SPEN	-	NULL		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257260	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16257260	G	A	16257260	3	1	160	1	0	0	0	0	1	0	0	0	15068	1174	41	1	4567	1	SPEN	1	16257260	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	40	16257260	232993361	33	28306	173	2	1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16257263	16257263	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attcagaagggaaaatggatGataagaaagaggaccataaa							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257263G>A	ENST00000375759.3	+	11	4732	c.4528G>A	c.(4528-4530)Gat>Aat	p.D1510N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1510					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAATGGATGATAAGAAAGA	0.378																																																	0													69	76	74					1																	16257263		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4528G>A	1.37:g.16257263G>A	ENSP00000364912:p.Asp1510Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1510N	ENST00000375759.3	37	c.4528	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936036	0.52972	.	.	ENSG00000065526	ENST00000375759	T	0.18657	2.2	5.17	5.17	0.71159	.	.	.	.	.	T	0.34542	0.0901	L	0.32530	0.975	0.58432	D	0.999999	D	0.76494	0.999	D	0.64144	0.922	T	0.01484	-1.1343	9	0.33940	T	0.23	-11.4153	18.8556	0.92251	0.0:0.0:1.0:0.0	.	1510	Q96T58	MINT_HUMAN	N	1510	ENSP00000364912:D1510N	ENSP00000364912:D1510N	D	+	1	0	SPEN	16129850	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.202000	0.95026	2.688000	0.91661	0.563000	0.77884	GAT	SPEN	-	NULL		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257263	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16257263	G	A	16257263	3	1	160	1	0	0	0	0	1	0	0	0	15068	1290	45	1	4570	1	SPEN	1	16257263	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3	16257263	232993358	34	28307	173	2	1	121		14	12	2642	N	G_C	2.344249e-16
SPEN	23013	genome.wustl.edu	37	chr1	16257467	16257467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcacaactgattccattcaaGaaccagtagttctgttccat	6	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16257467G>C	ENST00000375759.3	+	11	4936	c.4732G>C	c.(4732-4734)Gaa>Caa	p.E1578Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1578					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCCATTCAAGAACCAGTAGT	0.423																																																	0													68	70	69					1																	16257467		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4732G>C	1.37:g.16257467G>C	ENSP00000364912:p.Glu1578Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1578Q	ENST00000375759.3	37	c.4732	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188904	0.57909	.	.	ENSG00000065526	ENST00000375759	T	0.17691	2.26	4.88	4.88	0.63580	.	.	.	.	.	T	0.31420	0.0796	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.02691	-1.1123	9	0.51188	T	0.08	-24.445	18.2236	0.89910	0.0:0.0:1.0:0.0	.	1578	Q96T58	MINT_HUMAN	Q	1578	ENSP00000364912:E1578Q	ENSP00000364912:E1578Q	E	+	1	0	SPEN	16130054	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.197000	0.94985	2.509000	0.84616	0.563000	0.77884	GAA	SPEN	-	NULL		0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257467	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16257467	G	C	16257467	3	2	160	1	0	0	0	0	1	0	0	0	15068	943	33	1	4774	1	SPEN	1	16257467	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	204	16257467	232993154	35	28308			1	121		14	12	2642	N	G_C	2.344249e-16
CLCNKA	1187	genome.wustl.edu	37	chr1	16359706	16359706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgaaccttcagtccctcttCgtgacatcgcggggcagagc	11	13	2	3	rs541770891	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16359706C>G	ENST00000331433.4	+	19	1990	c.1971C>G	c.(1969-1971)ttC>ttG	p.F657L	CLCNKA_ENST00000375692.1_Missense_Mutation_p.F656L|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.F656L|CLCNKA_ENST00000439316.2_Missense_Mutation_p.F614L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	657	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGTCCCTCTTCGTGACATCGC	0.612											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													180	156	164					1																	16359706		2203	4300	6503	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1971C>G	1.37:g.16359706C>G	ENSP00000332771:p.Phe657Leu	709	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.F657L	ENST00000331433.4	37	c.1971	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724211	0.30593	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.02	-5.25	0.02781	Cystathionine beta-synthase, core (2);	0.299613	0.36854	N	0.002371	D	0.86091	0.5850	L	0.53671	1.685	0.22127	N	0.999349	B;B;B	0.30763	0.294;0.19;0.19	B;B;B	0.35770	0.21;0.083;0.107	T	0.76645	-0.2883	10	0.51188	T	0.08	.	5.0838	0.14671	0.0:0.301:0.1614:0.5376	.	614;656;657	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	L	656;656;614;657	ENSP00000364844:F656L;ENSP00000410353:F656L;ENSP00000414445:F614L;ENSP00000332771:F657L	ENSP00000332771:F657L	F	+	3	2	CLCNKA	16232293	0.011000	0.17503	0.073000	0.20177	0.890000	0.51754	-1.586000	0.02110	-0.862000	0.04089	0.313000	0.20887	TTC	CLCNKA	-	pfam_Cysta_beta_synth_core		0.612	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	C			16359706	1	no_errors	ENST00000331433	ensembl	human	known	70_37	missense	SNP	0.015	G	G	16359706	C	G	16359706	3	3	160	1	0	0	0	0	1	0	0	0	3474	883	31	1	2041	1	CLCNKA	1	16359706	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	102239	16359706	232890915	36	28309										
EPHA2	1969	genome.wustl.edu	37	chr1	16458615	16458615	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgcgggacaggccaaagtCagacaccttgcagaccaggt	12	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16458615C>G	ENST00000358432.5	-	13	2423	c.2269G>C	c.(2269-2271)Gac>Cac	p.D757H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	757	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGCCAAAGTCAGACACCTTG	0.612																																																	0													165	141	150					1																	16458615		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2269G>C	1.37:g.16458615C>G	ENSP00000351209:p.Asp757His		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D757H	ENST00000358432.5	37	c.2269	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.109120	0.94292	.	.	ENSG00000142627	ENST00000358432	D	0.88354	-2.37	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	D	0.96926	0.8996	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97839	1.0267	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	757	P29317	EPHA2_HUMAN	H	757	ENSP00000351209:D757H	ENSP00000351209:D757H	D	-	1	0	EPHA2	16331202	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,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,pfscan_Prot_kinase_cat_dom		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16458615	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16458615	C	G	16458615	3	3	160	1	0	0	0	0	1	0	0	0	5179	826	29	1	681	1	EPHA2	1	16458615	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	98909	16458615	232792006	37	28310										
EPHA2	1969	genome.wustl.edu	37	chr1	16464585	16464585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgacgctgtagacaatgtCctcgcggcccccgctgtcct	12	15	0	2	rs368150751		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16464585C>T	ENST00000358432.5	-	5	1229	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAGACAATGTCCTCGCGGCCC	0.682																																																	0								C	ASN/ASP	0,4406		0,0,2203	41	37	39		1075	5	0.3	1		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA2	NM_004431.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/977	16464585	1,13005	2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1075G>A	1.37:g.16464585C>T	ENSP00000351209:p.Asp359Asn		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D359N	ENST00000358432.5	37	c.1075	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931372	0.52866	0.0	1.16E-4	ENSG00000142627	ENST00000358432	T	0.58210	0.35	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.78761	0.4334	M	0.93016	3.37	0.80722	D	1	B;D	0.76494	0.397;0.999	B;D	0.81914	0.148;0.995	D	0.84394	0.0556	10	0.87932	D	0	.	16.1088	0.81244	0.0:1.0:0.0:0.0	.	359;359	B5A968;P29317	.;EPHA2_HUMAN	N	359	ENSP00000351209:D359N	ENSP00000351209:D359N	D	-	1	0	EPHA2	16337172	1.000000	0.71417	0.317000	0.25265	0.209000	0.24338	7.740000	0.84986	2.488000	0.83962	0.561000	0.74099	GAC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16464585	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16464585	C	T	16464585	3	4	160	1	0	0	0	0	1	0	0	0	5179	855	30	1	1907	1	EPHA2	1	16464585	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5970	16464585	232786036	38	28311										
C1orf89	79363	genome.wustl.edu	37	chr1	16558560	16558560	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactcattcaggagcactctCtggggggttgggaagcaggc	16	9	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:16558560C>G	ENST00000375599.3	-	5	1179	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	254	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGAGCACTCTCTGGGGGGTTG	0.637																																																	0													63	68	66					1																	16558560		2203	4300	6503	SO:0001583	missense	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.760G>C	1.37:g.16558560C>G	ENSP00000364749:p.Glu254Gln		Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.E254Q	ENST00000375599.3	37	c.760	CCDS171.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778653	0.31502	.	.	ENSG00000132881	ENST00000375599	T	0.56611	0.45	5.47	4.56	0.56223	.	0.292350	0.32987	N	0.005417	T	0.27697	0.0681	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14200	-1.0481	10	0.31617	T	0.26	-3.7964	10.1968	0.43060	0.0:0.9088:0.0:0.0912	.	254	Q9BU20	RSG1_HUMAN	Q	254	ENSP00000364749:E254Q	ENSP00000364749:E254Q	E	-	1	0	RSG1	16431147	0.717000	0.27966	0.165000	0.22776	0.169000	0.22640	3.150000	0.50662	1.305000	0.44909	-0.136000	0.14681	GAG	RSG1	-	NULL		0.637	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	C	NM_030907		16558560	-1	no_errors	ENST00000375599	ensembl	human	known	70_37	missense	SNP	0.140	G	G	16558560	C	G	16558560	3	3	160	1	0	0	0	0	1	0	0	0	2071	922	32	1	20	1	C1orf89	1	16558560	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	93975	16558560	232692061	39	28312										
ATP13A2	23400	genome.wustl.edu	37	chr1	17312722	17312722	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgtgggcctgcactacctCagggggccggcgggcagcgg	18	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17312722C>G	ENST00000326735.8	-	29	3570	c.3537G>C	c.(3535-3537)ctG>ctC	p.L1179L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.L1174L|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E1079Q			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1179					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCACTACCTCAGGGGGCCGG	0.706																																																	0													21	30	27					1																	17312722		2172	4283	6455	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3537G>C	1.37:g.17312722C>G			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E1079Q	ENST00000326735.8	37	c.3235	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395998	0.25205	.	.	ENSG00000159363	ENST00000341676;ENST00000502418	D;D	0.97016	-3.32;-4.21	4.38	3.46	0.39613	.	.	.	.	.	D	0.91005	0.7171	.	.	.	0.54753	D	0.999988	B	0.19331	0.035	B	0.20184	0.028	D	0.85460	0.1166	8	0.22109	T	0.4	1.6192	7.1622	0.25671	0.1736:0.7304:0.0:0.096	.	1079	Q5JXY1	.	Q	1079;319	ENSP00000341115:E1079Q;ENSP00000423065:E319Q	ENSP00000341115:E1079Q	E	-	1	0	ATP13A2	17185309	0.165000	0.22948	0.992000	0.48379	0.116000	0.19942	0.617000	0.24359	2.426000	0.82243	0.543000	0.68304	GAG	ATP13A2	-	NULL		0.706	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	C	NM_022089		17312722	-1	no_errors	ENST00000341676	ensembl	human	known	70_37	missense	SNP	0.830	G	G	17312722	C	G	17312722	2	3	160	1	0	0	0	0	0	0	0	1	1125	835	29	1		1	ATP13A2	1	17312722	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	754162	17312722	231937899	40	28313										
PADI2	11240	genome.wustl.edu	37	chr1	17409138	17409138	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcctcgatgtagccaaactCaatttcatcctgcagggaca							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17409138C>T	ENST00000375486.4	-	10	1123	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E238K|PADI2_ENST00000375481.1_Missense_Mutation_p.E354K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	354					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TAGCCAAACTCAATTTCATCC	0.522																																																	0													57	56	57					1																	17409138		2203	4300	6503	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1060G>A	1.37:g.17409138C>T	ENSP00000364635:p.Glu354Lys		Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E354K	ENST00000375486.4	37	c.1060	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.429537	0.96131	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.32515	1.45;1.45;1.45	4.94	4.94	0.65067	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62849	-0.6767	10	0.52906	T	0.07	-44.6003	17.2656	0.87086	0.0:1.0:0.0:0.0	.	238;354	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	354;238;354	ENSP00000364635:E354K;ENSP00000405894:E238K;ENSP00000364630:E354K	ENSP00000364630:E354K	E	-	1	0	PADI2	17281725	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.681000	0.68175	2.745000	0.94114	0.650000	0.86243	GAG	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.522	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17409138	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17409138	C	T	17409138	3	4	160	1	0	0	0	0	1	0	0	0	11402	835	29	1	965	1	PADI2	1	17409138	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	96416	17409138	231841483	41	28314	174	2								
PADI2	11240	genome.wustl.edu	37	chr1	17409144	17409144	+	Nonsense_Mutation	SNP	C	C	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatgtagccaaactcaatttCatcctgcagggacaccaagg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:17409144C>A	ENST00000375486.4	-	10	1117	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E236*|PADI2_ENST00000375481.1_Nonsense_Mutation_p.E352*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	352					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AACTCAATTTCATCCTGCAGG	0.512																																																	0													55	54	54					1																	17409144		2203	4300	6503	SO:0001587	stop_gained	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1054G>T	1.37:g.17409144C>A	ENSP00000364635:p.Glu352*		Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E352*	ENST00000375486.4	37	c.1054	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.029610	0.98013	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-20.9255	17.2656	0.87086	0.0:1.0:0.0:0.0	.	.	.	.	X	352;236;352	.	ENSP00000364630:E352X	E	-	1	0	PADI2	17281731	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.583000	0.67484	2.745000	0.94114	0.650000	0.86243	GAA	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.512	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17409144	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	17409144	C	A	17409144	4	1	160	1	0	0	0	0	0	1	0	0	11402	835	29	3	971	3	PADI2	1	17409144	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6	17409144	231841477	42	28315	174	2								
PLA2G2F	64600	genome.wustl.edu	37	chr1	20471149	20471149	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctatgtggaccactatgatCacaccatcgagaacaacact	6	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:20471149C>G	ENST00000375102.3	+	4	493	c.391C>G	c.(391-393)Cac>Gac	p.H131D		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	88					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCACTATGATCACACCATCGA	0.597																																																	0													120	94	103					1																	20471149		2203	4300	6503	SO:0001583	missense	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.391C>G	1.37:g.20471149C>G	ENSP00000364243:p.His131Asp		Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.H131D	ENST00000375102.3	37	c.391	CCDS204.2	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235471	0.22626	.	.	ENSG00000158786	ENST00000375102	T	0.26957	1.7	5.01	-0.717	0.11208	.	0.478562	0.19484	N	0.113146	T	0.23926	0.0579	L	0.54323	1.7	0.09310	N	1	P	0.47604	0.898	B	0.43867	0.434	T	0.14035	-1.0487	10	0.87932	D	0	-22.0458	8.4632	0.32940	0.0:0.4994:0.0:0.5006	.	131	Q9BZM2-2	.	D	131	ENSP00000364243:H131D	ENSP00000364243:H131D	H	+	1	0	PLA2G2F	20343736	0.002000	0.14202	0.086000	0.20670	0.002000	0.02628	0.044000	0.13992	-0.413000	0.07507	-0.302000	0.09304	CAC	PLA2G2F	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2		0.597	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2F	HGNC	protein_coding	OTTHUMT00000007687.1	C	NM_022819		20471149	1	no_errors	ENST00000375102	ensembl	human	known	70_37	missense	SNP	0.009	G	G	20471149	C	G	20471149	3	3	160	1	0	0	0	0	1	0	0	0	12023	826	29	1	405	1	PLA2G2F	1	20471149	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3062005	20471149	228779472	43	28316										
SH2D5	400745	genome.wustl.edu	37	chr1	21048338	21048338	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcatggctgaggggccggaGagtccggggcggcctgcctg	21	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:21048338G>C	ENST00000444387.2	-	10	1616	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.L323V	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	407										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGGCCGGAGAGTCCGGGGC	0.701																																																	0													12	15	14					1																	21048338		1857	4073	5930	SO:0001583	missense	400745			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.1219C>G	1.37:g.21048338G>C	ENSP00000406026:p.Leu407Val		B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2	p.L407V	ENST00000444387.2	37	c.1219	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651325	0.47362	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	5.01	3.02	0.34903	.	0.309256	0.20888	N	0.083872	T	0.25005	0.0607	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.24269	0.052	T	0.12967	-1.0527	9	0.38643	T	0.18	.	6.8901	0.24224	0.0822:0.0:0.6048:0.313	.	407	Q6ZV89	SH2D5_HUMAN	V	323;407	.	ENSP00000364171:L323V	L	-	1	0	SH2D5	20920925	0.970000	0.33590	0.988000	0.46212	0.661000	0.39034	1.125000	0.31332	1.090000	0.41315	-0.311000	0.09066	CTC	SH2D5	-	NULL		0.701	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	G	XM_375698		21048338	-1	no_errors	ENST00000444387	ensembl	human	known	70_37	missense	SNP	0.093	C	C	21048338	G	C	21048338	3	2	160	1	0	0	0	0	1	0	0	0	14267	942	33	1	56	1	SH2D5	1	21048338	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	577189	21048338	228202283	44	28317										
USP48	84196	genome.wustl.edu	37	chr1	22056230	22056230	+	Missense_Mutation	SNP	G	G	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtagtgttgggcttttcttGagtttgcagtctataaacca							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22056230G>C	ENST00000308271.9	-	10	1915	c.1267C>G	c.(1267-1269)Caa>Gaa	p.Q423E	USP48_ENST00000529637.1_Missense_Mutation_p.Q422E|USP48_ENST00000421625.2_Missense_Mutation_p.Q423E|USP48_ENST00000400301.1_Missense_Mutation_p.Q423E	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	423					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGCTTTTCTTGAGTTTGCAGT	0.393																																																	0													192	170	178					1																	22056230		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1267C>G	1.37:g.22056230G>C	ENSP00000309262:p.Gln423Glu		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.Q423E	ENST00000308271.9	37	c.1267	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924240	0.18056	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	5.59	5.59	0.84812	.	0.484716	0.23314	N	0.049540	T	0.02494	0.0076	N	0.01874	-0.695	0.23430	N	0.997691	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.0	T	0.37934	-0.9684	10	0.02654	T	1	.	14.5521	0.68073	0.0:0.146:0.854:0.0	.	422;423;423;423;423;423	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	E	423;423;422;9;45;423	ENSP00000383157:Q423E;ENSP00000309262:Q423E;ENSP00000431949:Q422E;ENSP00000406256:Q423E	ENSP00000309262:Q423E	Q	-	1	0	USP48	21928817	1.000000	0.71417	0.689000	0.30133	0.914000	0.54420	6.595000	0.74109	2.782000	0.95742	0.557000	0.71058	CAA	USP48	-	NULL		0.393	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	G	NM_032236		22056230	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	0.526	C	C	22056230	G	C	22056230	3	2	160	1	0	0	0	0	1	0	0	0	17110	1299	45	1	1920	1	USP48	1	22056230	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1007892	22056230	227194391	45	28318	175	2								
USP48	84196	genome.wustl.edu	37	chr1	22056234	22056234	+	Silent	SNP	T	T	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgttgggcttttcttgagtTtgcagtctataaaccaacat							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22056234T>C	ENST00000308271.9	-	10	1911	c.1263A>G	c.(1261-1263)caA>caG	p.Q421Q	USP48_ENST00000529637.1_Silent_p.Q420Q|USP48_ENST00000421625.2_Silent_p.Q421Q|USP48_ENST00000400301.1_Silent_p.Q421Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	421	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTCTTGAGTTTGCAGTCTAT	0.393																																																	0													197	175	182					1																	22056234		2203	4300	6503	SO:0001819	synonymous_variant	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1263A>G	1.37:g.22056234T>C			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.Q421	ENST00000308271.9	37	c.1263	CCDS30623.1	1																																																																																			USP48	-	pfscan_Peptidase_C19		0.393	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	T	NM_032236		22056234	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	silent	SNP	0.435	C	C	22056234	T	C	22056234	2	2	160	1	0	0	0	0	0	0	0	1	17110	1838	64	5		5	USP48	1	22056234	Silent	SNP	T	TCGA-JW-A5VL-01A-11D-A28B-09	4	22056234	227194387	46	28319	175	2								
HSPG2	3339	genome.wustl.edu	37	chr1	22178679	22178679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagatccagggtctggccctCggccactgtggaggatgaag	15	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22178679C>T	ENST00000374695.3	-	53	6851	c.6772G>A	c.(6772-6774)Gag>Aag	p.E2258K	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2258	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCTGGCCCTCGGCCACTGTG	0.642																																																	0													54	51	52					1																	22178679		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6772G>A	1.37:g.22178679C>T	ENSP00000363827:p.Glu2258Lys		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.E2258K	ENST00000374695.3	37	c.6772	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209619	0.79240	.	.	ENSG00000142798	ENST00000374695	T	0.14266	2.52	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.551523	0.14285	N	0.329290	T	0.18551	0.0445	M	0.65320	2	0.42662	D	0.993481	P;B	0.39696	0.683;0.357	B;B	0.39840	0.311;0.094	T	0.07770	-1.0755	10	0.12103	T	0.63	.	16.8528	0.85998	0.0:1.0:0.0:0.0	.	198;2258	Q59EG0;P98160	.;PGBM_HUMAN	K	2258	ENSP00000363827:E2258K	ENSP00000363827:E2258K	E	-	1	0	HSPG2	22051266	0.997000	0.39634	0.994000	0.49952	0.982000	0.71751	5.059000	0.64306	2.584000	0.87258	0.561000	0.74099	GAG	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22178679	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.997	T	T	22178679	C	T	22178679	3	4	160	1	0	0	0	0	1	0	0	0	7450	893	31	1	6583	1	HSPG2	1	22178679	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	122445	22178679	227071942	47	28320										
HSPG2	3339	genome.wustl.edu	37	chr1	22181343	22181343	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcccagagagtccgtacctGaaaggacaaccacttggatc	9	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:22181343G>C	ENST00000374695.3	-	48	6210	c.6131C>G	c.(6130-6132)tCa>tGa	p.S2044*	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2044	Ig-like C2-type 5.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCCGTACCTGAAAGGACAAC	0.667																																																	0													51	51	51					1																	22181343		2202	4300	6502	SO:0001587	stop_gained	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6131C>G	1.37:g.22181343G>C	ENSP00000363827:p.Ser2044*		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S2044*	ENST00000374695.3	37	c.6131	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	45	11.891000	0.99614	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.54	5.54	0.83059	.	1.154950	0.06791	N	0.787004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	12.6883	0.56960	0.0:0.1657:0.8343:0.0	.	.	.	.	X	2044	.	ENSP00000363827:S2044X	S	-	2	0	HSPG2	22053930	0.994000	0.37717	0.967000	0.41034	0.027000	0.11550	2.203000	0.42752	2.620000	0.88729	0.561000	0.74099	TCA	HSPG2	-	NULL		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22181343	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	nonsense	SNP	0.967	C	C	22181343	G	C	22181343	4	2	160	1	0	0	0	0	0	1	0	0	7450	1294	45	1	7244	1	HSPG2	1	22181343	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2664	22181343	227069278	48	28321										
HTR1D	3352	genome.wustl.edu	37	chr1	23519981	23519981	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacccggcagagcctgtgatGaggtgggccgtggtgaagcg	19	9	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:23519981G>A	ENST00000374619.1	-	1	1241	c.732C>T	c.(730-732)ctC>ctT	p.L244L	HTR1D_ENST00000314113.3_Silent_p.L244L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCCTGTGATGAGGTGGGCCG	0.607																																																	0													43	48	46					1																	23519981		2203	4300	6503	SO:0001819	synonymous_variant	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.732C>T	1.37:g.23519981G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.L244	ENST00000374619.1	37	c.732	CCDS231.1	1																																																																																			HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt		0.607	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	G	NM_000864		23519981	-1	no_errors	ENST00000314113	ensembl	human	known	70_37	silent	SNP	1.000	A	A	23519981	G	A	23519981	2	1	160	1	0	0	0	0	0	0	0	1	7458	1277	45	1		1	HTR1D	1	23519981	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1338638	23519981	225730640	49	28322										
HNRNPR	10236	genome.wustl.edu	37	chr1	23648042	23648042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgactttactgaattcttCcaaaatgttttctttagtct	5	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:23648042C>T	ENST00000374612.1	-	7	913	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	HNRNPR_ENST00000426846.2_Missense_Mutation_p.E104K|HNRNPR_ENST00000302271.6_Missense_Mutation_p.E264K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E125K|HNRNPR_ENST00000374616.3_Missense_Mutation_p.E264K|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E226K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E163K	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	264	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTGAATTCTTCCAAAATGTTT	0.348																																																	0													89	89	89					1																	23648042		2203	4299	6502	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.790G>A	1.37:g.23648042C>T	ENSP00000363741:p.Glu264Lys		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E264K	ENST00000374612.1	37	c.790	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.079575	0.94050	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.60845	1.875	0.80722	D	1	P;D;D;D;B;D	0.76494	0.903;0.994;0.994;0.999;0.425;0.999	P;D;D;D;B;D	0.75020	0.814;0.973;0.973;0.985;0.414;0.974	T	0.19128	-1.0315	10	0.87932	D	0	-5.3131	16.9396	0.86213	0.0:1.0:0.0:0.0	.	104;226;125;241;264;264	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	264;264;264;226;104	ENSP00000363745:E264K;ENSP00000363741:E264K;ENSP00000304405:E264K;ENSP00000392799:E226K;ENSP00000415042:E104K	ENSP00000304405:E264K	E	-	1	0	HNRNPR	23520629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.430000	0.82344	0.561000	0.74099	GAA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.348	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23648042	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23648042	C	T	23648042	3	4	160	1	0	0	0	0	1	0	0	0	7292	864	30	1	1140	1	HNRNPR	1	23648042	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	128061	23648042	225602579	50	28323										
HNRNPR	10236	genome.wustl.edu	37	chr1	23650114	23650114	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaatgcataccctctattctGaccggacagtggatccatca	7	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:23650114G>C	ENST00000374612.1	-	6	733	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q204E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q65E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q204E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q166E|HNRNPR_ENST00000478691.1_Missense_Mutation_p.Q103E	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	204	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCTCTATTCTGACCGGACAGT	0.453																																																	0													116	116	116					1																	23650114		2203	4300	6503	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.610C>G	1.37:g.23650114G>C	ENSP00000363741:p.Gln204Glu		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Q204E	ENST00000374612.1	37	c.610	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742061	0.30865	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.29	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048934	0.85682	N	0.000000	T	0.22975	0.0555	N	0.22421	0.69	0.80722	D	1	D;D;P;B;P	0.57899	0.958;0.981;0.933;0.126;0.917	P;D;P;B;P	0.64877	0.897;0.93;0.796;0.163;0.693	T	0.02909	-1.1095	10	0.09843	T	0.71	-1.8414	14.9106	0.70755	0.0:0.1442:0.8558:0.0	.	166;65;181;204;204	Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;HNRPR_HUMAN;.	E	204;204;204;166	ENSP00000363745:Q204E;ENSP00000363741:Q204E;ENSP00000304405:Q204E;ENSP00000392799:Q166E	ENSP00000304405:Q204E	Q	-	1	0	HNRNPR	23522701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.695000	0.98691	1.353000	0.45828	0.561000	0.74099	CAG	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.453	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	G	NM_005826		23650114	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23650114	G	C	23650114	3	2	160	1	0	0	0	0	1	0	0	0	7292	1299	45	1	1324	1	HNRNPR	1	23650114	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2072	23650114	225600507	51	28324										
MAN1C1	57134	genome.wustl.edu	37	chr1	26098186	26098186	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactcggggacagtttttatGaatatttgatcaaatcctgg	10	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:26098186G>C	ENST00000374332.4	+	8	1510	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	MAN1C1_ENST00000263979.3_Missense_Mutation_p.E214Q|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E165Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	394					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CAGTTTTTATGAATATTTGAT	0.478																																																	0													118	110	112					1																	26098186		2203	4300	6503	SO:0001583	missense	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1180G>C	1.37:g.26098186G>C	ENSP00000363452:p.Glu394Gln		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E394Q	ENST00000374332.4	37	c.1180	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.079656	0.94050	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	D;D;D	0.82893	-1.66;-1.66;-1.66	5.26	5.26	0.73747	.	0.047747	0.85682	D	0.000000	D	0.92922	0.7748	H	0.97131	3.945	0.80722	D	1	D	0.62365	0.991	P	0.54372	0.75	D	0.95150	0.8272	10	0.87932	D	0	.	19.2277	0.93824	0.0:0.0:1.0:0.0	.	394	Q9NR34	MA1C1_HUMAN	Q	394;214;214;165	ENSP00000363452:E394Q;ENSP00000263979:E214Q;ENSP00000363449:E165Q	ENSP00000263979:E214Q	E	+	1	0	MAN1C1	25970773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.742000	0.98846	2.628000	0.89032	0.591000	0.81541	GAA	MAN1C1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.478	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	G	NM_020379		26098186	1	no_errors	ENST00000374332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26098186	G	C	26098186	3	2	160	1	0	0	0	0	1	0	0	0	9236	1291	45	1	1210	1	MAN1C1	1	26098186	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2448072	26098186	223152435	52	28325										
CNKSR1	10256	genome.wustl.edu	37	chr1	26515969	26515969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtccccccactccctgccctCtgaccctgaagagcactccc	6	22	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:26515969C>G	ENST00000374253.5	+	21	2132	c.2093C>G	c.(2092-2094)tCt>tGt	p.S698C	CNKSR1_ENST00000531191.1_Missense_Mutation_p.S433C|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Missense_Mutation_p.S691C	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	698					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGCCCTCTGACCCTGAA	0.627																																					NSCLC(180;1396 2109 28270 30756 34275)												0													135	138	137					1																	26515969		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.2093C>G	1.37:g.26515969C>G	ENSP00000363371:p.Ser698Cys		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.S698C	ENST00000374253.5	37	c.2093		1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742777	0.49151	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.16457	2.37;2.37;2.34	5.54	3.62	0.41486	.	0.479431	0.21456	N	0.074246	T	0.21307	0.0513	L	0.51422	1.61	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.52710	0.707;0.707	T	0.08146	-1.0736	10	0.48119	T	0.1	-6.3068	4.6833	0.12745	0.1223:0.616:0.119:0.1427	.	698;691	Q969H4;Q53GM7	CNKR1_HUMAN;.	C	691;698;433	ENSP00000354609:S691C;ENSP00000363371:S698C;ENSP00000431817:S433C	ENSP00000354609:S691C	S	+	2	0	CNKSR1	26388556	0.000000	0.05858	0.770000	0.31555	0.594000	0.36715	0.164000	0.16542	1.313000	0.45069	0.655000	0.94253	TCT	CNKSR1	-	NULL		0.627	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	C	NM_006314		26515969	1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	0.005	G	G	26515969	C	G	26515969	3	3	160	1	0	0	0	0	1	0	0	0	3611	913	32	1	2154	1	CNKSR1	1	26515969	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	417783	26515969	222734652	53	28326										
ARID1A	8289	genome.wustl.edu	37	chr1	27100297	27100297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctttgcctcctatagacatGattcctatggcaatcagttc	6	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27100297G>A	ENST00000324856.7	+	17	4380	c.4009G>A	c.(4009-4011)Gat>Aat	p.D1337N	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.D954N|ARID1A_ENST00000457599.2_Missense_Mutation_p.D1337N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1337	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATAGACATGATTCCTATGG	0.547			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													194	193	193					1																	27100297		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4009G>A	1.37:g.27100297G>A	ENSP00000320485:p.Asp1337Asn		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D1337N	ENST00000324856.7	37	c.4009	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077615	0.55753	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03152	4.18;4.22;4.03	5.57	5.57	0.84162	.	0.044705	0.85682	D	0.000000	T	0.14657	0.0354	L	0.46157	1.445	0.80722	D	1	P;D;D;D	0.71674	0.933;0.958;0.998;0.997	P;P;D;D	0.81914	0.599;0.613;0.995;0.989	T	0.00366	-1.1786	10	0.49607	T	0.09	-1.112	19.5333	0.95239	0.0:0.0:1.0:0.0	.	954;1337;1337;990	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	N	1337;1337;954	ENSP00000320485:D1337N;ENSP00000387636:D1337N;ENSP00000363267:D954N	ENSP00000320485:D1337N	D	+	1	0	ARID1A	26972884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.414000	0.97362	2.630000	0.89119	0.655000	0.94253	GAT	ARID1A	-	NULL		0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27100297	1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27100297	G	A	27100297	3	1	160	1	0	0	0	0	1	0	0	0	913	1290	45	1	4075	1	ARID1A	1	27100297	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	584328	27100297	222150324	54	28327										
GPATCH3	63906	genome.wustl.edu	37	chr1	27223845	27223845	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccacttcttcctcaggctCtccacaggggctggctggta	10	16	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27223845C>G	ENST00000361720.5	-	2	846	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	275	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCAGGCTCTCCACAGGGG	0.537																																																	0													180	179	179					1																	27223845		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.823G>C	1.37:g.27223845C>G	ENSP00000354645:p.Glu275Gln		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E275Q	ENST00000361720.5	37	c.823	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841022	0.16891	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.48522	0.81	4.65	1.57	0.23409	.	0.878054	0.09995	N	0.729153	T	0.31482	0.0798	L	0.35723	1.085	0.09310	N	1	B	0.24132	0.098	B	0.17433	0.018	T	0.20974	-1.0259	10	0.23302	T	0.38	-1.3208	3.7889	0.08712	0.3393:0.4771:0.0:0.1836	.	275	Q96I76	GPTC3_HUMAN	Q	275;257;86	ENSP00000354645:E275Q	ENSP00000354645:E275Q	E	-	1	0	GPATCH3	27096432	0.425000	0.25498	0.003000	0.11579	0.007000	0.05969	2.330000	0.43885	0.556000	0.29098	-0.181000	0.13052	GAG	GPATCH3	-	NULL		0.537	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27223845	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	0.100	G	G	27223845	C	G	27223845	3	3	160	1	0	0	0	0	1	0	0	0	6611	922	32	1	778	1	GPATCH3	1	27223845	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	123548	27223845	222026776	55	28328										
WDTC1	23038	genome.wustl.edu	37	chr1	27622829	27622829	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactctaggtctatttgtttGacttgacttacaagcagcgg	9	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27622829G>C	ENST00000319394.3	+	10	1421	c.886G>C	c.(886-888)Gac>Cac	p.D296H	WDTC1_ENST00000361771.3_Missense_Mutation_p.D296H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	296					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTATTTGTTTGACTTGACTTA	0.498																																																	0													231	225	227					1																	27622829		2203	4300	6503	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.886G>C	1.37:g.27622829G>C	ENSP00000317971:p.Asp296His		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D296H	ENST00000319394.3	37	c.886		1	.	.	.	.	.	.	.	.	.	.	G	31	5.086711	0.94100	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.86562	-2.14;-2.14	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.089397	0.85682	D	0.000000	D	0.93733	0.7997	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68483	0.909;0.958	D	0.93677	0.6995	10	0.66056	D	0.02	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	296;296	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	H	296	ENSP00000317971:D296H;ENSP00000355317:D296H	ENSP00000317971:D296H	D	+	1	0	WDTC1	27495416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.802000	0.96397	0.655000	0.94253	GAC	WDTC1	-	superfamily_WD40_repeat_dom		0.498	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		G	NM_015023		27622829	1	no_errors	ENST00000319394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27622829	G	C	27622829	3	2	160	1	0	0	0	0	1	0	0	0	17373	1290	45	1	920	1	WDTC1	1	27622829	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	398984	27622829	221627792	56	28329										
CD164L2	388611	genome.wustl.edu	37	chr1	27709027	27709027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactgctcccacatgcagctGgagagattgcgcgctctgtc	11	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:27709027G>A	ENST00000374030.1	-	2	359	c.219C>T	c.(217-219)tcC>tcT	p.S73S	CD164L2_ENST00000374027.3_Silent_p.S73S|CD164L2_ENST00000374025.3_Silent_p.S73S			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	73						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACATGCAGCTGGAGAGATTGC	0.652																																																	0													46	48	47					1																	27709027		2203	4300	6503	SO:0001819	synonymous_variant	388611			AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.219C>T	1.37:g.27709027G>A			B2RPJ0|Q5JXD6	Silent	SNP	pfam_CD164_MGC24	p.S73	ENST00000374030.1	37	c.219		1																																																																																			CD164L2	-	pfam_CD164_MGC24		0.652	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CD164L2	HGNC	protein_coding	OTTHUMT00000009518.1	G	NM_207397		27709027	-1	no_errors	ENST00000374030	ensembl	human	known	70_37	silent	SNP	0.073	A	A	27709027	G	A	27709027	2	1	160	1	0	0	0	0	0	0	0	1	2975	1335	47	4		4	CD164L2	1	27709027	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	86198	27709027	221541594	57	28330										
GMEB1	10691	genome.wustl.edu	37	chr1	29023524	29023524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagcaccaaatttgatcttCtgatcagcagtgcaagagct	9	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:29023524C>G	ENST00000294409.2	+	6	646	c.556C>G	c.(556-558)Ctg>Gtg	p.L186V	GMEB1_ENST00000361872.4_Missense_Mutation_p.L176V|GMEB1_ENST00000373816.1_Missense_Mutation_p.L176V|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	186					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGATCTTCTGATCAGCAG	0.488																																																	0													97	92	94					1																	29023524		2203	4300	6503	SO:0001583	missense	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.556C>G	1.37:g.29023524C>G	ENSP00000294409:p.Leu186Val		B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.L186V	ENST00000294409.2	37	c.556	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960545	0.53400	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.56941	0.44;0.44;0.43	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.43923	1.385	0.31738	N	0.636229	D;D	0.63880	0.993;0.993	D;D	0.73708	0.952;0.981	T	0.59166	-0.7505	10	0.10636	T	0.68	-14.3814	17.971	0.89112	0.0:1.0:0.0:0.0	.	186;176	Q9Y692;B1AT47	GMEB1_HUMAN;.	V	176;152;176;186	ENSP00000362922:L176V;ENSP00000355186:L176V;ENSP00000294409:L186V	ENSP00000294409:L186V	L	+	1	2	GMEB1	28896111	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.112000	0.41892	2.542000	0.85734	0.561000	0.74099	CTG	GMEB1	-	NULL		0.488	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	C	NM_006582		29023524	1	no_errors	ENST00000294409	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29023524	C	G	29023524	3	3	160	1	0	0	0	0	1	0	0	0	6506	912	32	1	574	1	GMEB1	1	29023524	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1314497	29023524	220227097	58	28331										
YTHDF2	51441	genome.wustl.edu	37	chr1	29064809	29064809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaaaaggatggattaaacGatgatgattttgaaccttac	8	5	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:29064809G>A	ENST00000373812.3	+	3	453	c.91G>A	c.(91-93)Gat>Aat	p.D31N	YTHDF2_ENST00000542507.1_Missense_Mutation_p.D31N|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_De_novo_Start_OutOfFrame	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	31	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTAAACGATGATGATTT	0.358																																																	0													111	109	109					1																	29064809		1848	4087	5935	SO:0001583	missense	51441			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.91G>A	1.37:g.29064809G>A	ENSP00000362918:p.Asp31Asn		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D31N	ENST00000373812.3	37	c.91	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760241	0.89932	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000396232	T;T	0.54279	0.58;0.58	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.989;0.969	P;P	0.48454	0.578;0.578	T	0.60591	-0.7233	10	0.48119	T	0.1	-15.0013	18.4704	0.90773	0.0:0.0:1.0:0.0	.	31;31	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	N	31	ENSP00000444660:D31N;ENSP00000362918:D31N	ENSP00000362918:D31N	D	+	1	0	YTHDF2	28937396	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.869000	0.99810	2.655000	0.90218	0.561000	0.74099	GAT	YTHDF2	-	NULL		0.358	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	G	NM_016258		29064809	1	no_errors	ENST00000373812	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29064809	G	A	29064809	3	1	160	1	0	0	0	0	1	0	0	0	17530	1058	37	1	101	1	YTHDF2	1	29064809	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	41285	29064809	220185812	59	28332										
PTPRU	10076	genome.wustl.edu	37	chr1	29585841	29585841	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctagatgacatcctgcttctCagctacccctgcggtgagtc	9	14	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:29585841C>T	ENST00000345512.3	+	4	675	c.546C>T	c.(544-546)ctC>ctT	p.L182L	PTPRU_ENST00000460170.2_Silent_p.L182L|PTPRU_ENST00000356870.3_Silent_p.L182L|PTPRU_ENST00000373779.3_Silent_p.L182L|PTPRU_ENST00000428026.2_Silent_p.L182L|PTPRU_ENST00000323874.8_Silent_p.L182L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	182	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCTGCTTCTCAGCTACCCCT	0.682																																																	0													38	38	38					1																	29585841		2203	4299	6502	SO:0001819	synonymous_variant	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.546C>T	1.37:g.29585841C>T			A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L182	ENST00000345512.3	37	c.546	CCDS334.1	1																																																																																			PTPRU	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.682	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	C			29585841	1	no_errors	ENST00000345512	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29585841	C	T	29585841	2	4	160	1	0	0	0	0	0	0	0	1	12843	813	29	1		1	PTPRU	1	29585841	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	521032	29585841	219664780	60	28333										
PUM1	9698	genome.wustl.edu	37	chr1	31465384	31465384	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctgggactccatgttggaGaaatcctccacaggcttggc	11	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:31465384G>C	ENST00000257075.5	-	7	1104	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	PUM1_ENST00000426105.2_Missense_Mutation_p.F337L|PUM1_ENST00000373742.2_Missense_Mutation_p.F277L|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000423018.2_Missense_Mutation_p.F241L|PUM1_ENST00000373741.4_Missense_Mutation_p.F373L|PUM1_ENST00000440538.2_Missense_Mutation_p.F337L|PUM1_ENST00000373747.3_Missense_Mutation_p.F337L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	337					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCATGTTGGAGAAATCCTCCA	0.532																																																	0													127	120	123					1																	31465384		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1011C>G	1.37:g.31465384G>C	ENSP00000257075:p.Phe337Leu		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.F337L	ENST00000257075.5	37	c.1011	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020817|3.020817	0.54576|0.54576	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952|ENST00000525843;ENST00000498419;ENST00000532678	T;T;T;T;T;T;T|.	0.20332|.	2.27;2.52;2.53;2.45;2.52;2.18;2.08|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999993|0.999993	B;B;P;B;P;P;P|.	0.41624|.	0.369;0.001;0.757;0.002;0.659;0.521;0.659|.	B;B;B;B;B;B;B|.	0.39590|.	0.101;0.001;0.304;0.002;0.2;0.2;0.2|.	T|T	0.55798|0.55798	-0.8084|-0.8084	10|5	0.37606|.	T|.	0.19|.	-8.3825|-8.3825	7.7624|7.7624	0.28959|0.28959	0.1388:0.1405:0.7207:0.0|0.1388:0.1405:0.7207:0.0	.|.	277;241;373;337;337;337;337|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4|.	.;.;.;.;PUM1_HUMAN;.;.|.	L|V	337;337;337;337;373;241;277;337|354;44;59	ENSP00000257075:F337L;ENSP00000362852:F337L;ENSP00000391723:F337L;ENSP00000401777:F337L;ENSP00000362846:F373L;ENSP00000399440:F241L;ENSP00000362847:F277L|.	ENSP00000257075:F337L|.	F|L	-|-	3|1	2|0	PUM1|PUM1	31237971|31237971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.795000|1.795000	0.38784|0.38784	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	TTC|CTC	PUM1	-	NULL		0.532	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31465384	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31465384	G	C	31465384	3	2	160	1	0	0	0	0	1	0	0	0	12855	933	33	1	2619	1	PUM1	1	31465384	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1879543	31465384	217785237	61	28334										
PUM1	9698	genome.wustl.edu	37	chr1	31478834	31478834	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgttcacatggaaactctGaccaggtcttctctgcacca	7	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:31478834G>A	ENST00000257075.5	-	5	679	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q196*|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q232*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q196*|PUM1_ENST00000373747.3_Nonsense_Mutation_p.Q196*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	196					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q196E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAACTCTGACCAGGTCTT	0.468																																																	1	Substitution - Missense(1)	urinary_tract(1)											122	116	118					1																	31478834		2203	4300	6503	SO:0001587	stop_gained	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.586C>T	1.37:g.31478834G>A	ENSP00000257075:p.Gln196*		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q196*	ENST00000257075.5	37	c.586	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.520083|5.520083	0.96416|0.96416	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952|ENST00000525843	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76652	.|0.4017	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74210	.|-0.3739	.|4	0.56958|.	D|.	0.05|.	-4.5333|-4.5333	20.0637|20.0637	0.97700|0.97700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	196;196;196;196;232;196|212	.|.	ENSP00000257075:Q196X|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31251421|31251421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CAG|TCA	PUM1	-	NULL		0.468	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31478834	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31478834	G	A	31478834	4	1	160	1	0	0	0	0	0	1	0	0	12855	1299	45	1	3052	1	PUM1	1	31478834	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	13450	31478834	217771787	62	28335										
SERINC2	347735	genome.wustl.edu	37	chr1	31897655	31897655	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccacggcggccttcttcttCtttttcaccctgctcatgct	7	16	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:31897655C>G	ENST00000373709.3	+	3	477	c.327C>G	c.(325-327)ttC>ttG	p.F109L	SERINC2_ENST00000373710.1_Missense_Mutation_p.F118L|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.F113L|SERINC2_ENST00000536859.1_Missense_Mutation_p.F113L	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	109					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCTTCTTCTTCTTTTTCACCC	0.657																																																	0													20	21	20					1																	31897655		2203	4300	6503	SO:0001583	missense	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.327C>G	1.37:g.31897655C>G	ENSP00000362813:p.Phe109Leu		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	pfam_TMS_TDE	p.F118L	ENST00000373709.3	37	c.354	CCDS30662.1	1	.	.	.	.	.	.	.	.	.	.	C	8.814	0.935880	0.18206	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.3	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	N	0.16602	0.42	0.58432	D	0.999994	B;B;B;B	0.21905	0.011;0.011;0.011;0.062	B;B;B;B	0.31016	0.075;0.035;0.035;0.123	T	0.33266	-0.9875	10	0.16896	T	0.51	-45.7025	9.0001	0.36077	0.0:0.8249:0.0:0.1751	.	113;118;113;109	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	L	118;113;109;113	ENSP00000362814:F118L;ENSP00000444307:F113L;ENSP00000362813:F109L;ENSP00000439048:F113L	ENSP00000362813:F109L	F	+	3	2	SERINC2	31670242	0.994000	0.37717	0.998000	0.56505	0.380000	0.30137	0.873000	0.28052	2.239000	0.73571	0.655000	0.94253	TTC	SERINC2	-	pfam_TMS_TDE		0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	C	NM_018565		31897655	1	no_errors	ENST00000373710	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31897655	C	G	31897655	3	3	160	1	0	0	0	0	1	0	0	0	14110	912	32	1	337	1	SERINC2	1	31897655	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	418821	31897655	217352966	63	28336										
PEF1	553115	genome.wustl.edu	37	chr1	32098193	32098193	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgaatttccacagggctgaGaagccgtagacatcgatgcg	12	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:32098193G>C	ENST00000373703.4	-	4	550	c.528C>G	c.(526-528)ttC>ttG	p.F176L	PEF1_ENST00000492061.1_5'Flank	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	176	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		ACAGGGCTGAGAAGCCGTAGA	0.552																																																	0													54	53	53					1																	32098193		2203	4300	6503	SO:0001583	missense	553115				CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"EF-hand domain containing"	30009	protein-coding gene	gene with protein product	"peflin"	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.528C>G	1.37:g.32098193G>C	ENSP00000362807:p.Phe176Leu			Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F176L	ENST00000373703.4	37	c.528	CCDS345.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312760	0.81358	.	.	ENSG00000162517	ENST00000373703	D	0.96365	-3.99	3.95	3.95	0.45737	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	M	0.86268	2.805	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.96958	0.9699	10	0.87932	D	0	.	6.0642	0.19854	0.2039:0.0:0.7961:0.0	.	176	Q9UBV8	PEF1_HUMAN	L	176	ENSP00000362807:F176L	ENSP00000362807:F176L	F	-	3	2	PEF1	31870780	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.507000	0.60434	2.497000	0.84241	0.462000	0.41574	TTC	PEF1	-	smart_EF_hand_Ca-bd		0.552	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEF1	HGNC	protein_coding	OTTHUMT00000011046.1	G	NM_012392		32098193	-1	no_errors	ENST00000373703	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32098193	G	C	32098193	3	2	160	1	0	0	0	0	1	0	0	0	11742	933	33	1	334	1	PEF1	1	32098193	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	200538	32098193	217152428	64	28337										
BAI2	576	genome.wustl.edu	37	chr1	32203073	32203073	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccacgaggatcaggatgttgGatgccaagatggacaggcag	15	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:32203073G>C	ENST00000373658.3	-	20	3277	c.2936C>G	c.(2935-2937)tCc>tGc	p.S979C	BAI2_ENST00000440175.2_Missense_Mutation_p.S621C|BAI2_ENST00000398556.3_Missense_Mutation_p.S927C|BAI2_ENST00000398538.1_Missense_Mutation_p.S967C|BAI2_ENST00000257070.4_Missense_Mutation_p.S979C|BAI2_ENST00000373655.2_Missense_Mutation_p.S979C|BAI2_ENST00000398542.1_Missense_Mutation_p.S912C|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000527361.1_Missense_Mutation_p.S979C|BAI2_ENST00000398547.1_Missense_Mutation_p.S912C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	979					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGATGTTGGATGCCAAGAT	0.617																																																	0													131	117	122					1																	32203073		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2936C>G	1.37:g.32203073G>C	ENSP00000362762:p.Ser979Cys		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S979C	ENST00000373658.3	37	c.2936	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607069	0.87157	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.04	5.04	0.67666	GPCR, family 2-like (1);	0.000000	0.42420	D	0.000705	T	0.67088	0.2856	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.998;0.997;0.999;0.999	T	0.73186	-0.4062	10	0.87932	D	0	.	18.8871	0.92383	0.0:0.0:1.0:0.0	.	979;967;621;979;979	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	C	927;912;979;979;912;979;979;621;967	ENSP00000381564:S927C;ENSP00000381555:S912C;ENSP00000362762:S979C;ENSP00000362759:S979C;ENSP00000381550:S912C;ENSP00000257070:S979C;ENSP00000435397:S979C;ENSP00000391071:S621C;ENSP00000381548:S967C	ENSP00000257070:S979C	S	-	2	0	BAI2	31975660	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.686000	0.98664	2.724000	0.93272	0.561000	0.74099	TCC	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.617	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32203073	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32203073	G	C	32203073	3	2	160	1	0	0	0	0	1	0	0	0	1300	1174	41	1	1877	1	BAI2	1	32203073	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	104880	32203073	217047548	65	28338										
EIF3I	8668	genome.wustl.edu	37	chr1	32694789	32694789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaaccacaacctccaccagGattggcaagtttgaggccag	10	12	0	1	rs545905686		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:32694789G>T	ENST00000373586.1	+	9	855	c.783G>T	c.(781-783)agG>agT	p.R261S	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCTCCACCAGGATTGGCAAGT	0.453																																					Colon(102;1138 2140 2180 17876)												0													91	94	93					1																	32694789		2203	4300	6503	SO:0001583	missense	8668			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"WD repeat domain containing"	3272	protein-coding gene	gene with protein product		603911	"eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.783G>T	1.37:g.32694789G>T	ENSP00000362688:p.Arg261Ser			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R261S	ENST00000373586.1	37	c.783	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907138	0.52333	.	.	ENSG00000084623	ENST00000373586	T	0.46819	0.86	4.38	3.45	0.39498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.70108	2.13	0.80722	D	1	B	0.26512	0.151	B	0.26202	0.067	T	0.48525	-0.9028	10	0.46703	T	0.11	-22.7415	8.6062	0.33775	0.1755:0.0:0.8245:0.0	.	261	Q13347	EIF3I_HUMAN	S	261	ENSP00000362688:R261S	ENSP00000362688:R261S	R	+	3	2	EIF3I	32467376	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.661000	0.54503	2.162000	0.67917	0.313000	0.20887	AGG	EIF3I	-	superfamily_WD40_repeat_dom		0.453	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	G	NM_003757		32694789	1	no_errors	ENST00000373586	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32694789	G	T	32694789	3	4	160	1	0	0	0	0	1	0	0	0	5031	1165	41	3	817	3	EIF3I	1	32694789	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	491716	32694789	216555832	66	28339										
RBBP4	5928	genome.wustl.edu	37	chr1	33145259	33145259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggcagagaacatttataatGatgaagaccctgaaggaagc	11	6	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33145259G>C	ENST00000373493.5	+	12	1390	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H	RBBP4_ENST00000544435.1_Missense_Mutation_p.D159H|RBBP4_ENST00000458695.2_Missense_Mutation_p.D376H|RBBP4_ENST00000414241.3_Missense_Mutation_p.D410H|RBBP4_ENST00000373485.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	411					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CATTTATAATGATGAAGACCC	0.393																																																	0													118	116	117					1																	33145259		2203	4300	6503	SO:0001583	missense	5928			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1231G>C	1.37:g.33145259G>C	ENSP00000362592:p.Asp411His		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D411H	ENST00000373493.5	37	c.1231	CCDS366.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.3|20.3|20.3	3.959848|3.959848|3.959848	0.74016|0.74016|0.74016	.|.|.	.|.|.	ENSG00000162521|ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000458695|ENST00000482190|ENST00000463378	T;T;T;T|T|.	0.72394|0.70516|.	-0.39;-0.42;-0.65;-0.41|-0.49|.	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	WD40-repeat-containing domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.78691|0.78691|.	0.4323|0.4323|.	M|M|M	0.80746|0.80746|0.80746	2.51|2.51|2.51	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.65815|.|.	0.995;0.98|.|.	D;P|.|.	0.63283|.|.	0.913;0.655|.|.	T|T|.	0.79147|0.79147|.	-0.1923|-0.1923|.	10|7|.	0.72032|0.54805|.	D|T|.	0.01|0.06|.	.|.|.	18.3208|18.3208|18.3208	0.90238|0.90238|0.90238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	410;411|.|.	Q09028-2;Q09028|.|.	.;RBBP4_HUMAN|.|.	H|I|S	410;411;159;376|150|211	ENSP00000398242:D410H;ENSP00000362592:D411H;ENSP00000442384:D159H;ENSP00000396057:D376H|ENSP00000436565:M150I|.	ENSP00000362592:D411H|ENSP00000436565:M150I|.	D|M|X	+|+|+	1|3|2	0|0|2	RBBP4|RBBP4|RBBP4	32917846|32917846|32917846	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	9.205000|9.205000|9.205000	0.95048|0.95048|0.95048	2.646000|2.646000|2.646000	0.89796|0.89796|0.89796	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GAT|ATG|TGA	RBBP4	-	pfscan_WD40_repeat_dom		0.393	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	G	NM_005610		33145259	1	no_errors	ENST00000373493	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33145259	G	C	33145259	3	2	160	1	0	0	0	0	1	0	0	0	13131	1290	45	1	1277	1	RBBP4	1	33145259	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	450470	33145259	216105362	67	28340										
S100PBP	64766	genome.wustl.edu	37	chr1	33293677	33293677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attcctgttctacaaactaaGaccaggtaatgtaaagtata	6	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33293677G>C	ENST00000373475.5	+	4	1169	c.915G>C	c.(913-915)aaG>aaC	p.K305N	S100PBP_ENST00000398243.3_Missense_Mutation_p.K304N|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.K305N	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACAAACTAAGACCAGGTAAT	0.363																																																	0													92	95	94					1																	33293677		2203	4300	6503	SO:0001583	missense	64766			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.915G>C	1.37:g.33293677G>C	ENSP00000362574:p.Lys305Asn			Missense_Mutation	SNP	NULL	p.K305N	ENST00000373475.5	37	c.915	CCDS30666.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877355	0.33162	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.25	2.87	0.33458	.	0.199173	0.40554	N	0.001064	T	0.51363	0.1670	L	0.59436	1.845	0.23704	N	0.997064	D;P	0.63046	0.992;0.944	P;P	0.60541	0.876;0.714	T	0.41448	-0.9508	9	0.87932	D	0	-6.4804	6.9282	0.24426	0.8052:0.0:0.1948:0.0	.	304;305	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	N	305;305;304;304;305	.	ENSP00000349117:K305N	K	+	3	2	S100PBP	33066264	0.954000	0.32549	0.621000	0.29145	0.217000	0.24651	2.145000	0.42207	0.368000	0.24481	-0.302000	0.09304	AAG	S100PBP	-	NULL		0.363	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	G	NM_022753		33293677	1	no_errors	ENST00000373475	ensembl	human	known	70_37	missense	SNP	0.833	C	C	33293677	G	C	33293677	3	2	160	1	0	0	0	0	1	0	0	0	13821	933	33	1	921	1	S100PBP	1	33293677	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	148418	33293677	215956944	68	28341										
TRIM62	55223	genome.wustl.edu	37	chr1	33613039	33613039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggttgccatcgtgcatcacGatgcagtagaagccgcggct	13	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33613039G>A	ENST00000291416.5	-	5	1400	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	TRIM62_ENST00000543586.1_Silent_p.I268I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGTGCATCACGATGCAGTAGA	0.627																																																	0													58	58	58					1																	33613039		2203	4300	6503	SO:0001819	synonymous_variant	55223			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1167C>T	1.37:g.33613039G>A			B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I389	ENST00000291416.5	37	c.1167	CCDS376.1	1																																																																																			TRIM62	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.627	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM62	HGNC	protein_coding	OTTHUMT00000011890.1	G	NM_018207		33613039	-1	no_errors	ENST00000291416	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33613039	G	A	33613039	2	1	160	1	0	0	0	0	0	0	0	1	16568	1048	37	1		1	TRIM62	1	33613039	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	319362	33613039	215637582	69	28342										
PHC2	1912	genome.wustl.edu	37	chr1	33838043	33838043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtctgtgcagggcctgctgGatcacctgagaagggaggga	17	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:33838043G>C	ENST00000257118.5	-	2	233	c.180C>G	c.(178-180)atC>atG	p.I60M	PHC2_ENST00000373416.1_De_novo_Start_InFrame|PHC2_ENST00000431992.1_Missense_Mutation_p.I60M|PHC2_ENST00000419414.2_Missense_Mutation_p.I60M	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	60	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCCTGCTGGATCACCTGAG	0.637																																																	0													19	21	20					1																	33838043		2202	4300	6502	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.180C>G	1.37:g.33838043G>C	ENSP00000257118:p.Ile60Met		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.I60M	ENST00000257118.5	37	c.180	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508992	0.64410	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.44482	1.25;0.92;1.31	5.19	4.18	0.49190	.	0.130642	0.49305	D	0.000147	T	0.62085	0.2399	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.995;0.995;0.998	D;D;D	0.78314	0.963;0.963;0.991	T	0.65738	-0.6095	10	0.62326	D	0.03	-17.958	14.0089	0.64483	0.0:0.0:0.8381:0.1619	.	60;60;60	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	M	60	ENSP00000389436:I60M;ENSP00000257118:I60M;ENSP00000391440:I60M	ENSP00000257118:I60M	I	-	3	3	PHC2	33610630	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.528000	0.35985	2.397000	0.81536	0.655000	0.94253	ATC	PHC2	-	NULL		0.637	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33838043	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33838043	G	C	33838043	3	2	160	1	0	0	0	0	1	0	0	0	11841	1164	41	1	2448	1	PHC2	1	33838043	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	225004	33838043	215412578	70	28343										
SFPQ	6421	genome.wustl.edu	37	chr1	35650092	35650092	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgtttgggccttcgtactCttctctccctctaccatatc	5	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:35650092C>G	ENST00000357214.5	-	10	2187	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	697					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCTTCGTACTCTTCTCTCCCT	0.463			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													147	149	148					1																	35650092		2203	4300	6503	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.2089G>C	1.37:g.35650092C>G	ENSP00000349748:p.Glu697Gln		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E697Q	ENST00000357214.5	37	c.2089	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707387	0.68615	.	.	ENSG00000116560	ENST00000357214	T	0.26373	1.74	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.22836	-1.0205	10	0.56958	D	0.05	-16.692	20.6244	0.99512	0.0:1.0:0.0:0.0	.	697	P23246	SFPQ_HUMAN	Q	697	ENSP00000349748:E697Q	ENSP00000349748:E697Q	E	-	1	0	SFPQ	35422679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.686000	0.74548	2.879000	0.98667	0.650000	0.86243	GAG	SFPQ	-	NULL		0.463	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	C	NM_005066		35650092	-1	no_errors	ENST00000357214	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35650092	C	G	35650092	3	3	160	1	0	0	0	0	1	0	0	0	14190	922	32	1	38	1	SFPQ	1	35650092	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1812049	35650092	213600529	71	28344										
THRAP3	9967	genome.wustl.edu	37	chr1	36752157	36752157	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggctatggaaactaccgctCaaattggcagaattaccggc	10	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:36752157C>G	ENST00000354618.5	+	4	550	c.326C>G	c.(325-327)tCa>tGa	p.S109*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S109*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	109	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTACCGCTCAAATTGGCAG	0.522			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													119	120	120					1																	36752157		2203	4300	6503	SO:0001587	stop_gained	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.326C>G	1.37:g.36752157C>G	ENSP00000346634:p.Ser109*		D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	NULL	p.S109*	ENST00000354618.5	37	c.326	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.244341	0.97408	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.76	5.76	0.90799	.	0.097795	0.44902	D	0.000404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.0846	19.312	0.94192	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000346634:S109X	S	+	2	0	THRAP3	36524744	0.345000	0.24835	0.990000	0.47175	0.991000	0.79684	4.127000	0.57944	2.882000	0.98803	0.655000	0.94253	TCA	THRAP3	-	NULL		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36752157	1	no_errors	ENST00000354618	ensembl	human	known	70_37	nonsense	SNP	0.996	G	G	36752157	C	G	36752157	4	3	160	1	0	0	0	0	0	1	0	0	15904	838	29	1	332	1	THRAP3	1	36752157	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1102065	36752157	212498464	72	28345										
ZC3H12A	80149	genome.wustl.edu	37	chr1	37941279	37941279	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttccggaagctgggctattCatccacggagatccacagcg	11	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:37941279C>A	ENST00000373087.6	+	2	298	c.182C>A	c.(181-183)tCa>tAa	p.S61*	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.S61L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGCTATTCATCCACGGAG	0.642																																																	1	Substitution - Missense(1)	skin(1)											59	56	57					1																	37941279		2203	4300	6503	SO:0001587	stop_gained	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.182C>A	1.37:g.37941279C>A	ENSP00000362179:p.Ser61*			Nonsense_Mutation	SNP	pfam_RNase_Zc3h12	p.S61*	ENST00000373087.6	37	c.182	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.239236	0.95240	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5436	16.8484	0.85987	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000362174:S61X	S	+	2	0	ZC3H12A	37713866	1.000000	0.71417	0.820000	0.32676	0.351000	0.29236	4.665000	0.61547	2.056000	0.61249	0.563000	0.77884	TCA	ZC3H12A	-	NULL		0.642	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	C	NM_025079		37941279	1	no_errors	ENST00000373082	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	37941279	C	A	37941279	4	1	160	1	0	0	0	0	0	1	0	0	17591	838	29	3	184	3	ZC3H12A	1	37941279	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1189122	37941279	211309342	73	28346										
INPP5B	3633	genome.wustl.edu	37	chr1	38409491	38409491	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttccagcgtaaaatcccgcGagactggcactatctggtcc	9	14	1	1	rs200033881		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:38409491G>C	ENST00000373026.1	-	3	227	c.227C>G	c.(226-228)tCg>tGg	p.S76W	INPP5B_ENST00000373023.2_Missense_Mutation_p.S76W|INPP5B_ENST00000373021.1_Missense_Mutation_p.S76W|INPP5B_ENST00000373024.3_Missense_Mutation_p.S76W			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	76	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.S113L(1)|p.S76L(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAATCCCGCGAGACTGGCAC	0.577																																																	2	Substitution - Missense(2)	large_intestine(2)											91	90	90					1																	38409491		1948	4146	6094	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.227C>G	1.37:g.38409491G>C	ENSP00000362117:p.Ser76Trp		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S76W	ENST00000373026.1	37	c.227		1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747966	0.69533	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.93076	-3.16;-3.16;-3.15;0.61	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000018	D	0.95781	0.8627	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.95;0.999;0.974	D	0.95953	0.8956	10	0.87932	D	0	.	14.5153	0.67816	0.0:0.0:1.0:0.0	.	76;76;76	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	W	76	ENSP00000362114:S76W;ENSP00000362117:S76W;ENSP00000362115:S76W;ENSP00000362112:S76W	ENSP00000362112:S76W	S	-	2	0	INPP5B	38182078	1.000000	0.71417	0.529000	0.27951	0.750000	0.42670	5.904000	0.69886	2.556000	0.86216	0.462000	0.41574	TCG	INPP5B	-	NULL		0.577	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	G	NM_005540		38409491	-1	no_errors	ENST00000373023	ensembl	human	known	70_37	missense	SNP	0.945	C	C	38409491	G	C	38409491	3	2	160	1	0	0	0	0	1	0	0	0	7775	1059	37	1	2598	1	INPP5B	1	38409491	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	468212	38409491	210841130	74	28347										
MACF1	23499	genome.wustl.edu	37	chr1	39776539	39776539	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtggccaagatgtacatttCagagttgaagaacatccggc	11	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:39776539C>T	ENST00000372915.3	+	25	3239	c.3152C>T	c.(3151-3153)tCa>tTa	p.S1051L	MACF1_ENST00000545844.1_Missense_Mutation_p.S1051L|MACF1_ENST00000564288.1_Missense_Mutation_p.S1046L|MACF1_ENST00000539005.1_Missense_Mutation_p.S1051L|MACF1_ENST00000317713.7_Missense_Mutation_p.S1051L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S1083L|MACF1_ENST00000361689.2_Missense_Mutation_p.S1051L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1051					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGTACATTTCAGAGTTGAAG	0.478																																																	0													89	80	83					1																	39776539		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3152C>T	1.37:g.39776539C>T	ENSP00000362006:p.Ser1051Leu		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S1051L	ENST00000372915.3	37	c.3152		1	.	.	.	.	.	.	.	.	.	.	C	36	5.621808	0.96660	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;D;D	0.88354	-0.16;-0.14;-0.16;-0.2;-0.01;-2.07;-2.37	5.18	5.18	0.71444	.	.	.	.	.	D	0.92639	0.7661	M	0.75777	2.31	0.80722	D	1	B;D;B	0.57571	0.021;0.98;0.383	B;P;B	0.53912	0.037;0.737;0.237	D	0.93508	0.6850	9	0.72032	D	0.01	.	18.6992	0.91614	0.0:1.0:0.0:0.0	.	1051;1051;1016	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	L	1051;1051;1051;1051;1051;1009;1200	ENSP00000439537:S1051L;ENSP00000362006:S1051L;ENSP00000354573:S1051L;ENSP00000313438:S1051L;ENSP00000444364:S1051L;ENSP00000435070:S1009L;ENSP00000437059:S1200L	ENSP00000313438:S1051L	S	+	2	0	MACF1	39549126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.414000	0.81942	0.655000	0.94253	TCA	MACF1	-	NULL		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39776539	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39776539	C	T	39776539	3	4	160	1	0	0	0	0	1	0	0	0	9167	838	29	1	3250	1	MACF1	1	39776539	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1367048	39776539	209474082	75	28348										
SLC2A1	6513	genome.wustl.edu	37	chr1	43395578	43395578	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctcctcgttgcggttgatGagcaggaagcggggactctc	14	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:43395578G>C	ENST00000426263.3	-	5	823	c.645C>G	c.(643-645)ctC>ctG	p.L215L	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	215					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCGGTTGATGAGCAGGAAGC	0.647																																																	0													86	84	85					1																	43395578		2203	4300	6503	SO:0001819	synonymous_variant	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.645C>G	1.37:g.43395578G>C			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.L215	ENST00000426263.3	37	c.645	CCDS477.1	1																																																																																			SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.647	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43395578	-1	no_errors	ENST00000426263	ensembl	human	known	70_37	silent	SNP	1.000	C	C	43395578	G	C	43395578	2	2	160	1	0	0	0	0	0	0	0	1	14568	1277	45	1		1	SLC2A1	1	43395578	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3619039	43395578	205855043	76	28349										
WDR65	149465	genome.wustl.edu	37	chr1	43675438	43675438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcgagagatatcggcgtttGatgtcacctacaccgccatt	9	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:43675438G>C	ENST00000372492.4	+	11	2104	c.1780G>C	c.(1780-1782)Gat>Cat	p.D594H	WDR65_ENST00000528956.1_Missense_Mutation_p.D594H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		594										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCGGCGTTTGATGTCACCTA	0.572																																																	0													132	108	116					1																	43675438		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.1780G>C	1.37:g.43675438G>C	ENSP00000361570:p.Asp594His		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D594H	ENST00000372492.4	37	c.1780		1	.	.	.	.	.	.	.	.	.	.	g	17.26	3.344630	0.61073	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.12255	2.7;2.7	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.117912	0.56097	D	0.000028	T	0.36744	0.0978	M	0.79258	2.445	0.48901	D	0.999728	P;D	0.56287	0.809;0.975	B;P	0.58172	0.39;0.834	T	0.01273	-1.1399	10	0.34782	T	0.22	.	20.265	0.98459	0.0:0.0:1.0:0.0	.	594;594	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	594	ENSP00000361570:D594H;ENSP00000435310:D594H	ENSP00000361570:D594H	D	+	1	0	WDR65	43448025	1.000000	0.71417	0.515000	0.27774	0.080000	0.17528	7.288000	0.78691	2.801000	0.96364	0.543000	0.68304	GAT	WDR65	-	superfamily_Quinonprotein_ADH-like		0.572	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43675438	1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	0.998	C	C	43675438	G	C	43675438	3	2	160	1	0	0	0	0	1	0	0	0	17347	1290	45	1	1818	1	WDR65	1	43675438	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	279860	43675438	205575183	77	28350										
ELOVL1	64834	genome.wustl.edu	37	chr1	43829599	43829599	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgcttctcagttggccttGaccttggcaatacctggagc	10	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:43829599G>A	ENST00000372458.3	-	8	945	c.828C>T	c.(826-828)gtC>gtT	p.V276V	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.V249V	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	276					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTGGCCTTGACCTTGGCAA	0.552																																																	0													86	82	84					1																	43829599		2203	4300	6503	SO:0001819	synonymous_variant	64834			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.828C>T	1.37:g.43829599G>A			B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Silent	SNP	pfam_GNS1_SUR4	p.V276	ENST00000372458.3	37	c.828	CCDS485.1	1																																																																																			ELOVL1	-	NULL		0.552	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	G	NM_022821		43829599	-1	no_errors	ENST00000372458	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43829599	G	A	43829599	2	1	160	1	0	0	0	0	0	0	0	1	5085	1277	45	1		1	ELOVL1	1	43829599	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	154161	43829599	205421022	78	28351										
PTPRF	5792	genome.wustl.edu	37	chr1	44019601	44019601	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caacactagtgccaagctctCagtgctcgaaggtacgtgct	10	12	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44019601C>G	ENST00000359947.4	+	5	708	c.368C>G	c.(367-369)tCa>tGa	p.S123*	PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S123*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S123*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S123*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	123	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCAAGCTCTCAGTGCTCGAA	0.602																																																	0													146	99	114					1																	44019601		2203	4300	6503	SO:0001587	stop_gained	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.368C>G	1.37:g.44019601C>G	ENSP00000353030:p.Ser123*		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.S123*	ENST00000359947.4	37	c.368	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	C	38	6.874183	0.97901	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	.	.	.	4.74	4.74	0.60224	.	0.000000	0.29239	N	0.012726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.1107	0.89534	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000353030:S123X	S	+	2	0	PTPRF	43792188	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.794000	0.62482	2.334000	0.79466	0.655000	0.94253	TCA	PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	C			44019601	1	no_errors	ENST00000359947	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	44019601	C	G	44019601	4	3	160	1	0	0	0	0	0	1	0	0	12831	838	29	1	378	1	PTPRF	1	44019601	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	190002	44019601	205231020	79	28352										
PTPRF	5792	genome.wustl.edu	37	chr1	44057179	44057179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgccttcaccgccgtgggcGatggccctcccagccccacc	10	20	1	0	rs368501227		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44057179G>A	ENST00000359947.4	+	9	1826	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N	PTPRF_ENST00000438120.1_Missense_Mutation_p.D496N|PTPRF_ENST00000372413.3_Missense_Mutation_p.D496N|PTPRF_ENST00000372414.3_Missense_Mutation_p.D496N|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	496	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCCGTGGGCGATGGCCCTCC	0.682																																																	0								G	ASN/ASP,ASN/ASP	0,4346		0,0,2173	12	12	12		1486,1486	5.3	0.4	1		12	1,8445		0,1,4222	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	23,23	0,1,6395	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	496/1908,496/1899	44057179	1,12791	2173	4223	6396	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1486G>A	1.37:g.44057179G>A	ENSP00000353030:p.Asp496Asn		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.D496N	ENST00000359947.4	37	c.1486	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657632|2.657632	0.47467|0.47467	0.0|0.0	1.18E-4|1.18E-4	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568;ENST00000414879	T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Fibronectin, type III (5);Immunoglobulin-like fold (1);|.	0.000000|.	0.35838|.	N|.	0.002953|.	D|D	0.82421|0.82421	0.5033|0.5033	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;0.998;1.0|.	P;P;D|.	0.73708|.	0.842;0.877;0.981|.	T|T	0.83220|0.83220	-0.0069|-0.0069	10|5	0.24483|.	T|.	0.36|.	.|.	19.4657|19.4657	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152;496;496|.	Q59FI2;P10586-2;P10586|.	.;.;PTPRF_HUMAN|.	N|Q	496|163;20	ENSP00000353030:D496N;ENSP00000398822:D496N;ENSP00000361491:D496N;ENSP00000361490:D496N|.	ENSP00000353030:D496N|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43829766|43829766	1.000000|1.000000	0.71417|0.71417	0.409000|0.409000	0.26459|0.26459	0.059000|0.059000	0.15707|0.15707	7.643000|7.643000	0.83403|0.83403	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GAT|CGA	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44057179	1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44057179	G	A	44057179	3	1	160	1	0	0	0	0	1	0	0	0	12831	1058	37	1	1512	1	PTPRF	1	44057179	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	37578	44057179	205193442	80	28353										
RNF220	55182	genome.wustl.edu	37	chr1	44878382	44878382	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcatctagcccagaggatCggaatgacagatgtaagtac	10	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:44878382C>G	ENST00000355387.2	+	2	1063	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	RNF220_ENST00000361799.2_Missense_Mutation_p.R205G|RNF220_ENST00000372247.2_Missense_Mutation_p.R205G			Q5VTB9	RN220_HUMAN	ring finger protein 220	205					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCCAGAGGATCGGAATGACAG	0.522																																																	0													96	86	89					1																	44878382		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.613C>G	1.37:g.44878382C>G	ENSP00000347548:p.Arg205Gly		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R205G	ENST00000355387.2	37	c.613	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602295	0.28534	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	4.71	0.59529	.	0.069805	0.56097	D	0.000023	T	0.66458	0.2791	L	0.40543	1.245	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.64651	-0.6357	9	0.40728	T	0.16	.	16.6252	0.84968	0.1562:0.8438:0.0:0.0	.	205	Q5VTB9	RN220_HUMAN	G	205	.	ENSP00000347548:R205G	R	+	1	2	RNF220	44650969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.736000	0.55052	2.684000	0.91462	0.655000	0.94253	CGG	RNF220	-	NULL		0.522	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	C	NM_018150		44878382	1	no_errors	ENST00000355387	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44878382	C	G	44878382	3	3	160	1	0	0	0	0	1	0	0	0	13513	875	31	1	615	1	RNF220	1	44878382	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	821203	44878382	204372239	81	28354										
HECTD3	79654	genome.wustl.edu	37	chr1	45474374	45474374	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgaacatcaatcccatcatCtgggggaaggggtcagagta	12	9	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45474374C>T	ENST00000372172.4	-	8	1144		c.e8-1		HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATCCCATCATCTGGGGGAAGG	0.552																																																	0													126	117	120					1																	45474374		2050	4207	6257	SO:0001630	splice_region_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1073-1G>A	1.37:g.45474374C>T			B3KPV7|B3KRH4|Q5T448|Q9H783	Splice_Site	SNP	-	e8-1	ENST00000372172.4	37	c.1073-1	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463097	0.63513	.	.	ENSG00000126107	ENST00000372172	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HECTD3	45246961	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	7.122000	0.77169	2.357000	0.79964	0.655000	0.94253	.	HECTD3	-	-		0.552	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602	Intron	45474374	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	45474374	C	T	45474374	5	4	160	1	0	0	0	0	0	0	1	0	7061	927	32	1	1569	1	HECTD3	1	45474374	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	595992	45474374	203776247	82	28355										
ZSWIM5	57643	genome.wustl.edu	37	chr1	45524287	45524287	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgatgggaacttacctagctCatcccagagctgcctgcact	9	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45524287C>G	ENST00000359600.5	-	4	1451	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	416						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCTAGCTCATCCCAGAGC	0.498																																																	0													120	120	120					1																	45524287		2120	4266	6386	SO:0001583	missense	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1246G>C	1.37:g.45524287C>G	ENSP00000352614:p.Glu416Gln		Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E416Q	ENST00000359600.5	37	c.1246	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345059	0.82022	.	.	ENSG00000162415	ENST00000359600	T	0.48522	0.81	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.45422	1.42	0.80722	D	1	B	0.32338	0.365	B	0.33890	0.172	T	0.25187	-1.0139	10	0.30854	T	0.27	-2.9733	20.1745	0.98175	0.0:1.0:0.0:0.0	.	416	Q9P217	ZSWM5_HUMAN	Q	416	ENSP00000352614:E416Q	ENSP00000352614:E416Q	E	-	1	0	ZSWIM5	45296874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAG	ZSWIM5	-	NULL		0.498	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	C	XM_046581		45524287	-1	no_errors	ENST00000359600	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45524287	C	G	45524287	3	3	160	1	0	0	0	0	1	0	0	0	18274	835	29	1	2355	1	ZSWIM5	1	45524287	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	49913	45524287	203726334	83	28356										
ZSWIM5	57643	genome.wustl.edu	37	chr1	45671717	45671717	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctcccgctcattccgcggGaaggaccagtagacgatgcg	12	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:45671717G>A	ENST00000359600.5	-	1	511	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	102						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CATTCCGCGGGAAGGACCAGT	0.716																																																	0													18	20	19					1																	45671717		1917	4108	6025	SO:0001819	synonymous_variant	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.306C>T	1.37:g.45671717G>A			Q5SXQ9	Silent	SNP	pfscan_Znf_SWIM	p.F102	ENST00000359600.5	37	c.306	CCDS41319.1	1																																																																																			ZSWIM5	-	NULL		0.716	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	G	XM_046581		45671717	-1	no_errors	ENST00000359600	ensembl	human	known	70_37	silent	SNP	0.997	A	A	45671717	G	A	45671717	2	1	160	1	0	0	0	0	0	0	0	1	18274	1165	41	1		1	ZSWIM5	1	45671717	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	147430	45671717	203578904	84	28357										
MAST2	23139	genome.wustl.edu	37	chr1	46496304	46496304	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcagcatggagcggctctCactgctcgaggagcgccgga	15	13	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:46496304C>G	ENST00000361297.2	+	22	2862	c.2579C>G	c.(2578-2580)tCa>tGa	p.S860*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S790*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGCGGCTCTCACTGCTCGAG	0.637																																																	0													15	18	17					1																	46496304		2066	4209	6275	SO:0001587	stop_gained	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2579C>G	1.37:g.46496304C>G	ENSP00000354671:p.Ser860*			Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S860*	ENST00000361297.2	37	c.2579	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.382889	0.98786	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	.	.	.	4.86	4.86	0.63082	.	0.059008	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6025	17.1569	0.86793	0.0:1.0:0.0:0.0	.	.	.	.	X	860;790;534;745	.	ENSP00000354671:S860X	S	+	2	0	MAST2	46268891	1.000000	0.71417	0.657000	0.29651	0.615000	0.37417	7.544000	0.82117	2.517000	0.84864	0.561000	0.74099	TCA	MAST2	-	superfamily_Kinase-like_dom		0.637	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	C	NM_015112		46496304	1	no_errors	ENST00000361297	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	46496304	C	G	46496304	4	3	160	1	0	0	0	0	0	1	0	0	9348	838	29	1	2665	1	MAST2	1	46496304	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	824587	46496304	202754317	85	28358										
MAST2	23139	genome.wustl.edu	37	chr1	46496373	46496373	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaggagaaggaggaccattCagatggcctggcagggctca	16	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:46496373C>G	ENST00000361297.2	+	22	2931	c.2648C>G	c.(2647-2649)tCa>tGa	p.S883*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S813*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGACCATTCAGATGGCCTG	0.637																																																	0													20	23	22					1																	46496373		2041	4180	6221	SO:0001587	stop_gained	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2648C>G	1.37:g.46496373C>G	ENSP00000354671:p.Ser883*			Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S883*	ENST00000361297.2	37	c.2648	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.544954	0.98348	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	.	.	.	4.56	3.64	0.41730	.	0.382752	0.24504	N	0.037959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.564	4.7883	0.13236	0.0:0.7354:0.0:0.2646	.	.	.	.	X	883;813;557;768	.	ENSP00000354671:S883X	S	+	2	0	MAST2	46268960	0.279000	0.24239	0.962000	0.40283	0.551000	0.35334	3.786000	0.55431	2.517000	0.84864	0.561000	0.74099	TCA	MAST2	-	NULL		0.637	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	C	NM_015112		46496373	1	no_errors	ENST00000361297	ensembl	human	known	70_37	nonsense	SNP	0.525	G	G	46496373	C	G	46496373	4	3	160	1	0	0	0	0	0	1	0	0	9348	838	29	1	2734	1	MAST2	1	46496373	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	69	46496373	202754248	86	28359										
CYP4A22	284541	genome.wustl.edu	37	chr1	47606478	47606478	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgaccaggagctacaacgGattcaggaacgggtgaagac	13	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:47606478G>C	ENST00000371891.3	+	2	253	c.222G>C	c.(220-222)cgG>cgC	p.R74R	CYP4A22_ENST00000294337.3_Silent_p.R74R|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.R74R|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	74						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACAACGGATTCAGGAAC	0.483																																					Pancreas(88;1240 1470 2099 14214 37557)												0													172	150	158					1																	47606478		2203	4300	6503	SO:0001819	synonymous_variant	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.222G>C	1.37:g.47606478G>C			Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.R74	ENST00000371891.3	37	c.222	CCDS30707.1	1																																																																																			CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.483	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47606478	1	no_errors	ENST00000371891	ensembl	human	known	70_37	silent	SNP	0.000	C	C	47606478	G	C	47606478	2	2	160	1	0	0	0	0	0	0	0	1	4189	1161	41	1		1	CYP4A22	1	47606478	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1110105	47606478	201644143	87	28360										
PRPF38A	84950	genome.wustl.edu	37	chr1	52882338	52882338	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtctaagaagagccacaaGaagagccggagagggaatga	15	6	1	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:52882338G>A	ENST00000257181.9	+	10	1101	c.915G>A	c.(913-915)aaG>aaA	p.K305K	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	305					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K305N(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGAGCCACAAGAAGAGCCGGA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											82	82	82					1																	52882338		2203	4300	6503	SO:0001819	synonymous_variant	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.915G>A	1.37:g.52882338G>A			Q96JW1|Q9BVZ8	Silent	SNP	pfam_PRP38	p.K305	ENST00000257181.9	37	c.915	CCDS567.1	1																																																																																			PRPF38A	-	NULL		0.448	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882338	1	no_errors	ENST00000257181	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52882338	G	A	52882338	2	1	160	1	0	0	0	0	0	0	0	1	12594	933	33	1		1	PRPF38A	1	52882338	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5275860	52882338	196368283	88	28361										
PODN	127435	genome.wustl.edu	37	chr1	53537219	53537219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccctagaacaaccagctgGaaaagatctaccctgaggag	9	13	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53537219G>C	ENST00000312553.5	+	3	476	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	PODN_ENST00000471210.1_3'UTR|PODN_ENST00000371500.3_Missense_Mutation_p.E138Q|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	109					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAACCAGCTGGAAAAGATCTA	0.617																																																	0													48	44	45					1																	53537219		2202	4300	6502	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.469G>C	1.37:g.53537219G>C	ENSP00000308315:p.Glu157Gln		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.E157Q	ENST00000312553.5	37	c.469	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232908	0.58777	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.57907	0.37;0.37	5.18	5.18	0.71444	.	0.427429	0.25922	N	0.027421	T	0.57021	0.2025	L	0.35341	1.055	0.80722	D	1	D;B	0.60575	0.988;0.178	P;B	0.58721	0.844;0.108	T	0.46735	-0.9170	10	0.18710	T	0.47	.	17.6222	0.88085	0.0:0.0:1.0:0.0	.	138;157	Q7Z5L7-2;Q7Z5L7-3	.;.	Q	138;157	ENSP00000360555:E138Q;ENSP00000308315:E157Q	ENSP00000308315:E157Q	E	+	1	0	PODN	53309807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.314000	0.51943	2.688000	0.91661	0.655000	0.94253	GAA	PODN	-	NULL		0.617	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	G	NM_153703		53537219	1	no_errors	ENST00000312553	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53537219	G	C	53537219	3	2	160	1	0	0	0	0	1	0	0	0	12202	1175	41	1	479	1	PODN	1	53537219	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	654881	53537219	195713402	89	28362										
SLC1A7	6512	genome.wustl.edu	37	chr1	53600054	53600054	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtggcaggatcatcatcttCagcatcctcatcaggagctc	9	12	6	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53600054C>T	ENST00000371494.4	-	2	310	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLC1A7_ENST00000371491.4_Silent_p.L61L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	61					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TCATCATCTTCAGCATCCTCA	0.527																																					NSCLC(128;80 1811 21245 38490 51715)												0													79	74	75					1																	53600054		2203	4300	6503	SO:0001819	synonymous_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.183G>A	1.37:g.53600054C>T			Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L61	ENST00000371494.4	37	c.183	CCDS574.1	1																																																																																			SLC1A7	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.527	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	C	NM_006671		53600054	-1	no_errors	ENST00000371494	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53600054	C	T	53600054	2	4	160	1	0	0	0	0	0	0	0	1	14467	813	29	1		1	SLC1A7	1	53600054	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	62835	53600054	195650567	90	28363										
CPT2	1376	genome.wustl.edu	37	chr1	53675983	53675983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtcaatgcgtatcccctgGatatgtcccagtattttcgg	10	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:53675983G>C	ENST00000371486.3	+	4	1152	c.637G>C	c.(637-639)Gat>Cat	p.D213H	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	213			D -> G (in CPT2D). {ECO:0000269|PubMed:15622536}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GTATCCCCTGGATATGTCCCA	0.502																																																	0													110	104	106					1																	53675983		2203	4300	6503	SO:0001583	missense	1376			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.637G>C	1.37:g.53675983G>C	ENSP00000360541:p.Asp213His		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D213H	ENST00000371486.3	37	c.637	CCDS575.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410685	0.83340	.	.	ENSG00000157184	ENST00000371486	D	0.90444	-2.67	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97354	0.9965	10	0.59425	D	0.04	-21.8104	19.4198	0.94716	0.0:0.0:1.0:0.0	.	213	P23786	CPT2_HUMAN	H	213	ENSP00000360541:D213H	ENSP00000360541:D213H	D	+	1	0	CPT2	53448571	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.576000	0.86940	0.650000	0.86243	GAT	CPT2	-	pfam_Carn_acyl_trans		0.502	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	HGNC	protein_coding	OTTHUMT00000024757.1	G	NM_000098		53675983	1	no_errors	ENST00000371486	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53675983	G	C	53675983	3	2	160	1	0	0	0	0	1	0	0	0	3839	1174	41	1	651	1	CPT2	1	53675983	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	75929	53675983	195574638	91	28364										
GLIS1	148979	genome.wustl.edu	37	chr1	54059922	54059922	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcgctggtcgatgtggctCttctcgatgtgccgcaccag	13	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:54059922C>T	ENST00000312233.2	-	3	1220	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGATGTGGCTCTTCTCGATGT	0.672																																																	0													85	63	71					1																	54059922		2203	4300	6503	SO:0001819	synonymous_variant	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.654G>A	1.37:g.54059922C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K218	ENST00000312233.2	37	c.654	CCDS582.1	1																																																																																			GLIS1	-	smart_Znf_C2H2-like		0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	C	NM_147193		54059922	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	silent	SNP	1.000	T	T	54059922	C	T	54059922	2	4	160	1	0	0	0	0	0	0	0	1	6464	912	32	1		1	GLIS1	1	54059922	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	383939	54059922	195190699	92	28365										
TTC4	7268	genome.wustl.edu	37	chr1	55197170	55197170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttaacccaggctaggaatatCaggctctcagaagctgcctg	10	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:55197170C>T	ENST00000371281.3	+	7	780	c.693C>T	c.(691-693)atC>atT	p.I231I	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	231										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CTAGGAATATCAGGCTCTCAG	0.458																																																	0													55	50	52					1																	55197170		2203	4300	6503	SO:0001819	synonymous_variant	7268				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.693C>T	1.37:g.55197170C>T			Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.I231	ENST00000371281.3	37	c.693	CCDS596.1	1																																																																																			TTC4	-	NULL		0.458	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC4	HGNC	protein_coding	OTTHUMT00000027432.1	C	NM_004623		55197170	1	no_errors	ENST00000371281	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55197170	C	T	55197170	2	4	160	1	0	0	0	0	0	0	0	1	16741	816	29	1		1	TTC4	1	55197170	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1137248	55197170	194053451	93	28366										
PPAP2B	8613	genome.wustl.edu	37	chr1	56977718	56977718	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggatggtgcttgtggtctGatacgcgagacagtcccgtg	16	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:56977718G>C	ENST00000371250.3	-	5	1291	c.740C>G	c.(739-741)tCa>tGa	p.S247*	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	247					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTGTGGTCTGATACGCGAGA	0.572																																																	0													108	98	101					1																	56977718		2203	4300	6503	SO:0001587	stop_gained	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.740C>G	1.37:g.56977718G>C	ENSP00000360296:p.Ser247*		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Nonsense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S247*	ENST00000371250.3	37	c.740	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.457112	0.99408	.	.	ENSG00000162407	ENST00000371250	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000360296:S247X	S	-	2	0	PPAP2B	56750306	1.000000	0.71417	0.944000	0.38274	0.817000	0.46193	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	TCA	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.572	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	G	NM_003713		56977718	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	56977718	G	C	56977718	4	2	160	1	0	0	0	0	0	1	0	0	12315	1294	45	1	203	1	PPAP2B	1	56977718	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1780548	56977718	192272903	94	28367										
PPAP2B	8613	genome.wustl.edu	37	chr1	56990200	56990200	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcgacttcttcaggtaataGatccggtagaattcccccgt	9	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:56990200G>C	ENST00000371250.3	-	3	875	c.324C>G	c.(322-324)atC>atG	p.I108M		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	108					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCAGGTAATAGATCCGGTAGA	0.483																																																	0													63	66	65					1																	56990200		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.324C>G	1.37:g.56990200G>C	ENSP00000360296:p.Ile108Met		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I108M	ENST00000371250.3	37	c.324	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769591	0.69992	.	.	ENSG00000162407	ENST00000371250	T	0.75154	-0.91	5.71	3.72	0.42706	.	0.049091	0.85682	D	0.000000	T	0.78597	0.4308	L	0.45581	1.43	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.76637	-0.2886	10	0.35671	T	0.21	.	11.6839	0.51474	0.0:0.1339:0.727:0.1391	.	108	O14495	LPP3_HUMAN	M	108	ENSP00000360296:I108M	ENSP00000360296:I108M	I	-	3	3	PPAP2B	56762788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.885000	0.28227	1.392000	0.46585	0.591000	0.81541	ATC	PPAP2B	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.483	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	G	NM_003713		56990200	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56990200	G	C	56990200	3	2	160	1	0	0	0	0	1	0	0	0	12315	932	33	1	627	1	PPAP2B	1	56990200	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	12482	56990200	192260421	95	28368										
JUN	3725	genome.wustl.edu	37	chr1	59248413	59248413	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgcgcacgaagccctcggcGaagccctcctgctcatctgt	11	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:59248413G>A	ENST00000371222.2	-	1	1372	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	110					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	AGCCCTCGGCGAAGCCCTCCT	0.672			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													55	60	58					1																	59248413		2198	4297	6495	SO:0001819	synonymous_variant	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.330C>T	1.37:g.59248413G>A			Q6FHM7|Q96G93	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F110	ENST00000371222.2	37	c.330	CCDS610.1	1																																																																																			JUN	-	pfam_JNK		0.672	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1	G	NM_002228		59248413	-1	no_errors	ENST00000371222	ensembl	human	known	70_37	silent	SNP	0.999	A	A	59248413	G	A	59248413	2	1	160	1	0	0	0	0	0	0	0	1	7989	1049	37	1		1	JUN	1	59248413	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2258213	59248413	190002208	96	28369										
DOCK7	85440	genome.wustl.edu	37	chr1	62976295	62976295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagtgagtcatatctttcctCcacctcaaattttcttgact	4	12	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:62976295C>G	ENST00000340370.5	-	33	4256	c.4239G>C	c.(4237-4239)tgG>tgC	p.W1413C	DOCK7_ENST00000251157.5_Missense_Mutation_p.W1435C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1444					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TATCTTTCCTCCACCTCAAAT	0.358																																																	0													110	106	107					1																	62976295		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4239G>C	1.37:g.62976295C>G	ENSP00000340742:p.Trp1413Cys		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.W1435C	ENST00000340370.5	37	c.4305	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210678|4.210678	0.79240|0.79240	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.48201	.|0.82;0.82	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.136399	.|0.53938	.|D	.|0.000055	T|T	0.69611|0.69611	0.3130|0.3130	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|P;D;P;P;P;D	.|0.60575	.|0.836;0.984;0.816;0.816;0.819;0.988	.|P;P;P;P;P;D	.|0.64042	.|0.548;0.878;0.58;0.58;0.794;0.921	T|T	0.75645|0.75645	-0.3246|-0.3246	5|10	.|0.87932	.|D	.|0	.|.	18.1644|18.1644	0.89721|0.89721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1444;1435;1413;1404;1404;1435	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	Q|C	607|1444;1435;1413;174	.|ENSP00000251157:W1435C;ENSP00000340742:W1413C	.|ENSP00000251157:W1435C	E|W	-|-	1|3	0|0	DOCK7|DOCK7	62748883|62748883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	7.780000|7.780000	0.85658|0.85658	2.343000|2.343000	0.79666|0.79666	0.650000|0.650000	0.86243|0.86243	GAG|TGG	DOCK7	-	NULL		0.358	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	C	NM_033407		62976295	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62976295	C	G	62976295	3	3	160	1	0	0	0	0	1	0	0	0	4702	856	30	1	2158	1	DOCK7	1	62976295	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3727882	62976295	186274326	97	28370										
ALG6	29929	genome.wustl.edu	37	chr1	63894748	63894749	+	Missense_Mutation	DNP	GG	GG	AA													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccttttccatttctgtgaGgaaatatcttccatgtttta							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:63894748_63894749GG>AA	ENST00000371108.4	+	14	1582_1583	c.1277_1278GG>AA	c.(1276-1278)aGG>aAA	p.R426K	ALG6_ENST00000263440.4_Missense_Mutation_p.R428K|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	426					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATTTCTGTGAGGAAATATCTTC	0.287																																																	0																																										SO:0001583	missense	29929			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	Exception_encountered	1.37:g.63894748_63894749delinsAA	ENSP00000360149:p.Arg426Lys		B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation|Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.R428K|p.R428	ENST00000371108.4	37	c.1283|c.1284	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8		0.287	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	G	NM_013339		63894748|63894749	1	no_errors	ENST00000263440	ensembl	human	known	70_37	missense|silent	SNP	0.638|0.619	A	AA	63894749	GG	AA	63894748	3	1	160	1	0	0	0	0	1	0	0	0	522	1000	35	4	1327	4	ALG6	1	63894748	Missense_Mutation	DNP	GG	TCGA-JW-A5VL-01A-11D-A28B-09	918453	63894748	185355873	98	28371										
LEPR	3953	genome.wustl.edu	37	chr1	66036336	66036336	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttgaacctaagtttaattCaagtggtactcacttttcta	6	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:66036336C>G	ENST00000349533.6	+	4	406	c.221C>G	c.(220-222)tCa>tGa	p.S74*	LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371060.3_Nonsense_Mutation_p.S74*|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371058.1_Nonsense_Mutation_p.S74*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.S74*|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Nonsense_Mutation_p.S74*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGTTTAATTCAAGTGGTACT	0.378																																																	0													115	112	113					1																	66036336		2203	4300	6503	SO:0001587	stop_gained	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.221C>G	1.37:g.66036336C>G	ENSP00000330393:p.Ser74*		Q6FHL5	Nonsense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S74*	ENST00000349533.6	37	c.221	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.466993	0.96257	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.69	2.59	0.31030	.	0.705490	0.13310	N	0.397548	.	.	.	.	.	.	0.39389	D	0.966386	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-5.102	5.7044	0.17901	0.0:0.6636:0.1608:0.1756	.	.	.	.	X	74	.	ENSP00000340884:S74X	S	+	2	0	LEPR	65808924	0.227000	0.23707	0.792000	0.32020	0.846000	0.48090	0.009000	0.13219	1.409000	0.46915	0.557000	0.71058	TCA	LEPR	-	NULL		0.378	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66036336	1	no_errors	ENST00000349533	ensembl	human	known	70_37	nonsense	SNP	0.545	G	G	66036336	C	G	66036336	4	3	160	1	0	0	0	0	0	1	0	0	8748	838	29	1	227	1	LEPR	1	66036336	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2141588	66036336	183214285	99	28372										
ACADM	34	genome.wustl.edu	37	chr1	76200550	76200550	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaatgactgaggagccattGatgtgtgtgagtatgtgtaa	14	3	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:76200550G>C	ENST00000370841.4	+	6	899	c.462G>C	c.(460-462)ttG>ttC	p.L154F	ACADM_ENST00000420607.2_Missense_Mutation_p.L158F|ACADM_ENST00000370834.5_Missense_Mutation_p.L187F|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000541113.1_Missense_Mutation_p.L118F	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	154					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGGAGCCATTGATGTGTGTGA	0.348																																																	0													105	97	100					1																	76200550		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.462G>C	1.37:g.76200550G>C	ENSP00000359878:p.Leu154Phe		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.L158F	ENST00000370841.4	37	c.474	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478618	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31	5.63	-0.506	0.11989	Acyl-CoA dehydrogenase/oxidase (1);	0.284342	0.32671	N	0.005781	D	0.93906	0.8050	L	0.60845	1.875	0.80722	D	1	P;B;B;B;B	0.41265	0.744;0.003;0.014;0.056;0.015	B;B;B;B;B	0.41412	0.356;0.007;0.031;0.05;0.022	D	0.91300	0.5066	10	0.10377	T	0.69	.	1.9157	0.03297	0.4126:0.124:0.3369:0.1265	.	118;68;187;158;154	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	F	154;187;118;158	ENSP00000359878:L154F;ENSP00000359871:L187F;ENSP00000442324:L118F;ENSP00000409612:L158F	ENSP00000359871:L187F	L	+	3	2	ACADM	75973138	0.017000	0.18338	0.536000	0.28039	0.745000	0.42441	-0.867000	0.04241	-0.056000	0.13221	0.655000	0.94253	TTG	ACADM	-	superfamily_AcylCoA_DH/oxidase		0.348	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76200550	1	no_errors	ENST00000420607	ensembl	human	known	70_37	missense	SNP	0.285	C	C	76200550	G	C	76200550	3	2	160	1	0	0	0	0	1	0	0	0	113	1281	45	1	496	1	ACADM	1	76200550	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10164214	76200550	173050071	100	28373										
ST6GALNAC5	81849	genome.wustl.edu	37	chr1	77528829	77528829	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cattcaatattcacttttttCaaccagactggaaaccagaa	4	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:77528829C>T	ENST00000477717.1	+	5	1184	c.949C>T	c.(949-951)Caa>Taa	p.Q317*		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	317					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCACTTTTTTCAACCAGACTG	0.443																																																	0													113	107	109					1																	77528829		2203	4300	6503	SO:0001587	stop_gained	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.949C>T	1.37:g.77528829C>T	ENSP00000417583:p.Gln317*		B1AK82	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q317*	ENST00000477717.1	37	c.949	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.522574	0.97633	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-38.4026	20.3422	0.98769	0.0:1.0:0.0:0.0	.	.	.	.	X	317;227	.	ENSP00000406658:Q227X	Q	+	1	0	ST6GALNAC5	77301417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.810000	0.96702	0.655000	0.94253	CAA	ST6GALNAC5	-	pirsf_Sialyl_trans		0.443	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2	C	NM_030965		77528829	1	no_errors	ENST00000477717	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	77528829	C	T	77528829	4	4	160	1	0	0	0	0	0	1	0	0	15257	827	29	1	967	1	ST6GALNAC5	1	77528829	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1328279	77528829	171721792	101	28374										
PIGK	10026	genome.wustl.edu	37	chr1	77627295	77627295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataccgagagtgaatcttctCccacttgactactagctaga	7	11	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:77627295C>G	ENST00000370812.3	-	7	709	c.686G>C	c.(685-687)gGa>gCa	p.G229A	PIGK_ENST00000370813.5_Missense_Mutation_p.G153A|PIGK_ENST00000359130.1_Missense_Mutation_p.G229A|PIGK_ENST00000445065.1_Missense_Mutation_p.G135A|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	229					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGAATCTTCTCCCACTTGACT	0.363																																																	0													113	101	105					1																	77627295		2203	4300	6503	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.686G>C	1.37:g.77627295C>G	ENSP00000359848:p.Gly229Ala		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.G229A	ENST00000370812.3	37	c.686	CCDS674.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247512	0.80024	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.48836	0.8;0.81;0.8;0.82	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.975;0.975	D;D;P;P	0.75484	0.986;0.98;0.908;0.908	T	0.75288	-0.3370	10	0.44086	T	0.13	-13.5961	17.6359	0.88122	0.0:1.0:0.0:0.0	.	153;135;229;229	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	A	229;135;153;229	ENSP00000359848:G229A;ENSP00000388854:G135A;ENSP00000359849:G153A;ENSP00000352041:G229A	ENSP00000352041:G229A	G	-	2	0	PIGK	77399883	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.273000	0.78527	2.454000	0.82982	0.650000	0.86243	GGA	PIGK	-	pfam_Peptidase_C13		0.363	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	C	NM_005482		77627295	-1	no_errors	ENST00000370812	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77627295	C	G	77627295	3	3	160	1	0	0	0	0	1	0	0	0	11914	855	30	1	521	1	PIGK	1	77627295	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	98466	77627295	171623326	102	28375										
SPATA1	1486	genome.wustl.edu	37	chr1	85016205	85016205	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaaatgaaactcatagtaGaagttaaggtaatttacatt	6	4	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:85016205G>C	ENST00000370630.5	-	0	5683				CTBS_ENST00000477677.1_5'Flank	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACTCATAGTAGAAGTTAAGGT	0.294																																																	0													49	46	47					1																	85016205		1790	4052	5842	SO:0001624	3_prime_UTR_variant	100505741			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*4477C>G	1.37:g.85016205G>C			Q5VX50	RNA	SNP	-	NULL	ENST00000370630.5	37	NULL	CCDS698.1	1																																																																																			SPATA1	-	-		0.294	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA1	HGNC	protein_coding	OTTHUMT00000027457.2	G	NM_004388		85016205	1	no_errors	ENST00000490879	ensembl	human	known	70_37	rna	SNP	1.000	C	C	85016205	G	C	85016205	1	2	160	0	1	0	0	0	0	0	0	0	15028	943	33	1		1	SPATA1	1	85016205	3'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7388910	85016205	164234416	103	28376										
WDR63	126820	genome.wustl.edu	37	chr1	85560159	85560159	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgactttcttttgaagacaGagttcacttttctggtaaat	8	7	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:85560159G>C	ENST00000294664.6	+	10	1274	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	WDR63_ENST00000370596.1_Missense_Mutation_p.R326T|WDR63_ENST00000326813.8_Missense_Mutation_p.R326T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	365										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTGAAGACAGAGTTCACTTT	0.423																																																	0													242	238	239					1																	85560159		2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1094G>C	1.37:g.85560159G>C	ENSP00000294664:p.Arg365Thr		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R365T	ENST00000294664.6	37	c.1094	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957263	0.53400	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.70164	-0.46;-0.46;-0.46	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.134298	0.64402	D	0.000008	T	0.80454	0.4626	M	0.90483	3.12	0.39296	D	0.964825	D;D	0.76494	0.979;0.999	P;D	0.69142	0.844;0.962	T	0.80834	-0.1205	10	0.33940	T	0.23	-17.5503	14.9657	0.71193	0.0701:0.0:0.9299:0.0	.	326;365	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	T	326;326;365	ENSP00000359628:R326T;ENSP00000317463:R326T;ENSP00000294664:R365T	ENSP00000294664:R365T	R	+	2	0	WDR63	85332747	0.999000	0.42202	0.562000	0.28370	0.171000	0.22731	5.182000	0.65059	2.688000	0.91661	0.650000	0.86243	AGA	WDR63	-	superfamily_WD40_repeat_dom		0.423	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	G	NM_145172		85560159	1	no_errors	ENST00000294664	ensembl	human	known	70_37	missense	SNP	0.603	C	C	85560159	G	C	85560159	3	2	160	1	0	0	0	0	1	0	0	0	17345	942	33	1	1128	1	WDR63	1	85560159	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	543954	85560159	163690462	104	28377										
SYDE2	84144	genome.wustl.edu	37	chr1	85656076	85656076	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgggattgtaccatatttCtccttcatcatctgcatcat	5	10	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:85656076C>T	ENST00000341460.5	-	2	1154	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	369					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TACCATATTTCTCCTTCATCA	0.408																																																	0													87	86	87					1																	85656076		2026	4187	6213	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1105G>A	1.37:g.85656076C>T	ENSP00000340594:p.Glu369Lys		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E369K	ENST00000341460.5	37	c.1105	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.413127	0.96072	.	.	ENSG00000097096	ENST00000341460	T	0.19669	2.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	D;D	0.74674	0.914;0.984	T	0.33343	-0.9872	10	0.87932	D	0	.	20.3861	0.98944	0.0:1.0:0.0:0.0	.	369;369	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	K	369	ENSP00000340594:E369K	ENSP00000340594:E369K	E	-	1	0	SYDE2	85428664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.999000	0.76283	2.825000	0.97269	0.585000	0.79938	GAA	SYDE2	-	NULL		0.408	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	C			85656076	-1	no_errors	ENST00000341460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85656076	C	T	85656076	3	4	160	1	0	0	0	0	1	0	0	0	15466	922	32	1	2503	1	SYDE2	1	85656076	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	95917	85656076	163594545	105	28378										
ODF2L	57489	genome.wustl.edu	37	chr1	86822207	86822207	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagactctcctgacactcgtGaagcctccgttccgccgccg	9	18	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:86822207G>A	ENST00000359242.3	-	14	1719	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	ODF2L_ENST00000294678.2_Missense_Mutation_p.H451Y|ODF2L_ENST00000370567.1_Missense_Mutation_p.H451Y|ODF2L_ENST00000317336.7_Missense_Mutation_p.H480Y|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000394731.1_Missense_Mutation_p.H320Y|ODF2L_ENST00000370566.3_Intron	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	480						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TGACACTCGTGAAGCCTCCGT	0.567																																																	0													84	76	79					1																	86822207		2203	4300	6503	SO:0001583	missense	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1438C>T	1.37:g.86822207G>A	ENSP00000359600:p.His480Tyr		A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.H480Y	ENST00000359242.3	37	c.1438	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	G	3.040	-0.197810	0.06219	.	.	ENSG00000122417	ENST00000441121;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678	T;T;T;T;T;T	0.78126	2.0;-1.11;2.0;2.01;2.0;-1.15	6.16	6.16	0.99307	.	1.138090	0.06137	N	0.671715	T	0.55401	0.1918	N	0.22421	0.69	0.25272	N	0.9895	B;P;P	0.38420	0.34;0.478;0.63	B;B;B	0.28709	0.093;0.093;0.093	T	0.61342	-0.7082	10	0.62326	D	0.03	7.4617	18.0158	0.89239	0.0:0.0:1.0:0.0	.	451;451;480	Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;ODF2L_HUMAN	Y	451;480;327;480;451;320;451	ENSP00000359600:H480Y;ENSP00000433092:H327Y;ENSP00000320165:H480Y;ENSP00000359598:H451Y;ENSP00000378219:H320Y;ENSP00000294678:H451Y	ENSP00000294678:H451Y	H	-	1	0	ODF2L	86594795	1.000000	0.71417	0.975000	0.42487	0.183000	0.23260	4.098000	0.57748	2.937000	0.99478	0.650000	0.86243	CAC	ODF2L	-	NULL		0.567	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	G			86822207	-1	no_errors	ENST00000317336	ensembl	human	known	70_37	missense	SNP	0.987	A	A	86822207	G	A	86822207	3	1	160	1	0	0	0	0	1	0	0	0	10852	1290	45	1	668	1	ODF2L	1	86822207	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1166131	86822207	162428414	106	28379										
RBMXL1	494115	genome.wustl.edu	37	chr1	89448842	89448842	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgagaacttgggtaatctCtgcttgaatagctgtcttta	9	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:89448842C>G	ENST00000321792.5	-	2	1095	c.668G>C	c.(667-669)aGa>aCa	p.R223T	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R223T	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	223					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGGGTAATCTCTGCTTGAATA	0.448																																																	0													183	167	173					1																	89448842		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.668G>C	1.37:g.89448842C>G	ENSP00000318415:p.Arg223Thr			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R223T	ENST00000321792.5	37	c.668	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822986	0.50739	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77229	-1.08;-1.08	1.53	0.546	0.17196	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.76574	2.34	0.34262	D	0.68005	P	0.44986	0.847	B	0.40477	0.33	T	0.58555	-0.7616	10	0.87932	D	0	.	5.907	0.19006	0.0:0.8086:0.0:0.1914	.	223	Q96E39	RBMXL_HUMAN	T	223	ENSP00000318415:R223T;ENSP00000446099:R223T	ENSP00000318415:R223T	R	-	2	0	RBMXL1	89221430	1.000000	0.71417	0.964000	0.40570	0.277000	0.26821	4.924000	0.63418	0.012000	0.14892	-0.667000	0.03836	AGA	RBMXL1	-	NULL		0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	C	NM_019610		89448842	-1	no_errors	ENST00000321792	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89448842	C	G	89448842	3	3	160	1	0	0	0	0	1	0	0	0	13183	913	32	1	508	1	RBMXL1	1	89448842	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2626635	89448842	159801779	107	28380										
TMED5	50999	genome.wustl.edu	37	chr1	93621908	93621908	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtgccagtaatatatttCttccaatcttcttgttcttg	5	9	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:93621908C>G	ENST00000370282.3	-	3	905	c.420G>C	c.(418-420)aaG>aaC	p.K140N	TMED5_ENST00000370280.1_Missense_Mutation_p.K140N|TMED5_ENST00000479918.1_Missense_Mutation_p.K140N|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	140					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TAATATATTTCTTCCAATCTT	0.353																																																	0													185	175	179					1																	93621908		2203	4300	6503	SO:0001583	missense	50999			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.420G>C	1.37:g.93621908C>G	ENSP00000359305:p.Lys140Asn		B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.K140N	ENST00000370282.3	37	c.420	CCDS743.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003150	0.54254	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.18657	2.2;2.2;2.2	5.48	4.56	0.56223	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.31845	0.965	0.58432	D	0.999999	D;P	0.61697	0.99;0.947	D;P	0.64410	0.925;0.837	T	0.01956	-1.1240	10	0.33141	T	0.24	-29.1442	13.2941	0.60286	0.0:0.9228:0.0:0.0772	.	140;140	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	N	140;140;89;140	ENSP00000359305:K140N;ENSP00000418992:K140N;ENSP00000359303:K140N	ENSP00000359303:K140N	K	-	3	2	TMED5	93394496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.972000	0.40540	1.287000	0.44583	0.585000	0.79938	AAG	TMED5	-	pfam_GOLD,superfamily_GOLD		0.353	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED5	HGNC	protein_coding	OTTHUMT00000028076.3	C	NM_016040		93621908	-1	no_errors	ENST00000370282	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93621908	C	G	93621908	3	3	160	1	0	0	0	0	1	0	0	0	16037	912	32	1	330	1	TMED5	1	93621908	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4173066	93621908	155628713	108	28381										
CCDC18	343099	genome.wustl.edu	37	chr1	93657578	93657578	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctatgcttgagtctgctCaacagcaggcagccagtgtc	10	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:93657578C>T	ENST00000343253.7	+	5	986	c.484C>T	c.(484-486)Caa>Taa	p.Q162*	CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q280*|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q162*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	162										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGTCTGCTCAACAGCAGGC	0.333																																																	0													77	74	75					1																	93657578		1836	4096	5932	SO:0001587	stop_gained	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.484C>T	1.37:g.93657578C>T	ENSP00000343377:p.Gln162*		Q6ZU17	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q280*	ENST00000343253.7	37	c.838		1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671352	0.47781	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479	.	.	.	5.2	3.27	0.37495	.	0.581719	0.15892	N	0.239526	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.475	0.27371	0.0:0.587:0.3261:0.0869	.	.	.	.	X	162;162;280	.	ENSP00000343377:Q162X	Q	+	1	0	CCDC18	93430166	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	0.450000	0.21762	0.552000	0.29026	0.557000	0.71058	CAA	CCDC18	-	NULL		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	C	NM_206886		93657578	1	no_errors	ENST00000557479	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	93657578	C	T	93657578	4	4	160	1	0	0	0	0	0	1	0	0	2799	827	29	1	856	1	CCDC18	1	93657578	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	35670	93657578	155593043	109	28382										
BCAR3	8412	genome.wustl.edu	37	chr1	94032962	94032962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcccacatgtcggttccttCaaaagtcacagcctggcgct	8	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94032962C>T	ENST00000370244.1	-	13	2461	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	BCAR3_ENST00000260502.6_Missense_Mutation_p.E725K|BCAR3_ENST00000370243.1_Missense_Mutation_p.E725K|BCAR3_ENST00000539242.1_Missense_Mutation_p.E401K|BCAR3_ENST00000370247.3_Missense_Mutation_p.E634K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	725	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCGGTTCCTTCAAAAGTCACA	0.507																																																	0													143	128	133					1																	94032962		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2173G>A	1.37:g.94032962C>T	ENSP00000359264:p.Glu725Lys		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.E725K	ENST00000370244.1	37	c.2173	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.821256	0.96989	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.78801	2.425	0.80722	D	1	D;D	0.65815	0.995;0.98	P;P	0.59948	0.866;0.724	T	0.39502	-0.9611	10	0.44086	T	0.13	-15.8887	20.1577	0.98120	0.0:1.0:0.0:0.0	.	725;634	O75815;Q5TEW3	BCAR3_HUMAN;.	K	634;725;725;725;401	ENSP00000359267:E634K;ENSP00000260502:E725K;ENSP00000359264:E725K;ENSP00000359263:E725K;ENSP00000441343:E401K	ENSP00000260502:E725K	E	-	1	0	BCAR3	93805550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	GAA	BCAR3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.507	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	C			94032962	-1	no_errors	ENST00000260502	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94032962	C	T	94032962	3	4	160	1	0	0	0	0	1	0	0	0	1350	835	29	1	312	1	BCAR3	1	94032962	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	375384	94032962	155217659	110	28383										
DNTTIP2	30836	genome.wustl.edu	37	chr1	94342116	94342116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaacataaagtatcctcttCattctcactgttttcagact	3	10	4	1	rs371870982		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94342116C>G	ENST00000436063.2	-	2	1432	c.1375G>C	c.(1375-1377)Gaa>Caa	p.E459Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTATCCTCTTCATTCTCACTG	0.398																																																	0													129	124	125					1																	94342116		1949	4158	6107	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1375G>C	1.37:g.94342116C>G	ENSP00000411010:p.Glu459Gln		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.E459Q	ENST00000436063.2	37	c.1375	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149269	0.78001	.	.	ENSG00000067334	ENST00000436063	T	0.17370	2.28	5.04	5.04	0.67666	.	0.200178	0.35495	N	0.003174	T	0.34513	0.0900	M	0.72894	2.215	0.39969	D	0.974762	D	0.89917	1.0	D	0.71414	0.973	T	0.10382	-1.0632	10	0.62326	D	0.03	.	18.5707	0.91135	0.0:1.0:0.0:0.0	.	459	Q5QJE6	TDIF2_HUMAN	Q	459	ENSP00000411010:E459Q	ENSP00000352137:E459Q	E	-	1	0	DNTTIP2	94114704	0.978000	0.34361	0.995000	0.50966	0.803000	0.45373	4.197000	0.58413	2.609000	0.88269	0.655000	0.94253	GAA	DNTTIP2	-	NULL		0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	C	NM_014597		94342116	-1	no_errors	ENST00000436063	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94342116	C	G	94342116	3	3	160	1	0	0	0	0	1	0	0	0	4692	835	29	1	919	1	DNTTIP2	1	94342116	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	309154	94342116	154908505	111	28384										
DNTTIP2	30836	genome.wustl.edu	37	chr1	94342815	94342815	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtacccacgatctgtttctCatttcctggtacaatcttac	5	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:94342815C>G	ENST00000436063.2	-	2	733	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATCTGTTTCTCATTTCCTGGT	0.378																																																	0													157	156	156					1																	94342815		1867	4094	5961	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.676G>C	1.37:g.94342815C>G	ENSP00000411010:p.Glu226Gln		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.E226Q	ENST00000436063.2	37	c.676	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	3.222	-0.159244	0.06544	.	.	ENSG00000067334	ENST00000436063	T	0.16324	2.35	4.61	1.61	0.23674	.	0.909770	0.09309	N	0.819830	T	0.06050	0.0157	L	0.57536	1.79	0.09310	N	0.999998	B	0.21905	0.062	B	0.20577	0.03	T	0.39800	-0.9596	10	0.38643	T	0.18	.	5.7344	0.18059	0.0:0.66:0.1595:0.1804	.	226	Q5QJE6	TDIF2_HUMAN	Q	226	ENSP00000411010:E226Q	ENSP00000352137:E226Q	E	-	1	0	DNTTIP2	94115403	0.991000	0.36638	0.126000	0.21872	0.127000	0.20565	1.127000	0.31357	0.160000	0.19432	-0.291000	0.09656	GAG	DNTTIP2	-	NULL		0.378	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	C	NM_014597		94342815	-1	no_errors	ENST00000436063	ensembl	human	known	70_37	missense	SNP	0.412	G	G	94342815	C	G	94342815	3	3	160	1	0	0	0	0	1	0	0	0	4692	835	29	1	1618	1	DNTTIP2	1	94342815	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	699	94342815	154907806	112	28385										
SLC35A3	23443	genome.wustl.edu	37	chr1	100483336	100483336	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataatattatcaacattgatCtcctatttttggcttcaaga	4	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:100483336C>T	ENST00000370155.3	+	7	1244	c.852C>T	c.(850-852)atC>atT	p.I284I	SLC35A3_ENST00000427993.2_Silent_p.I284I|SLC35A3_ENST00000370153.1_Silent_p.I326I|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	284					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CAACATTGATCTCCTATTTTT	0.303																																					Ovarian(7;298 356 944 2149 6911)												0													66	67	66					1																	100483336		2202	4289	6491	SO:0001819	synonymous_variant	23443			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.852C>T	1.37:g.100483336C>T			A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.I326	ENST00000370155.3	37	c.978	CCDS762.1	1																																																																																			SLC35A3	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.303	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC35A3	HGNC	protein_coding	OTTHUMT00000029783.1	C	NM_012243		100483336	1	no_errors	ENST00000370153	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100483336	C	T	100483336	2	4	160	1	0	0	0	0	0	0	0	1	14602	903	32	1		1	SLC35A3	1	100483336	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6140521	100483336	148767285	113	28386										
NTNG1	22854	genome.wustl.edu	37	chr1	107867344	107867344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgaaatcaaagacaggttCgcgttttttgctggacctcg	10	8	1	2	rs368215587		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:107867344C>T	ENST00000370068.1	+	3	1533	c.687C>T	c.(685-687)ttC>ttT	p.F229F	NTNG1_ENST00000370070.2_Silent_p.F229F|NTNG1_ENST00000370065.1_Silent_p.F229F|NTNG1_ENST00000370061.3_Silent_p.F229F|NTNG1_ENST00000370066.1_Silent_p.F229F|NTNG1_ENST00000370071.2_Silent_p.F229F|NTNG1_ENST00000370072.3_Silent_p.F229F|NTNG1_ENST00000370074.4_Silent_p.F229F|NTNG1_ENST00000542803.1_Silent_p.F229F|NTNG1_ENST00000370067.1_Silent_p.F229F|NTNG1_ENST00000370073.2_Silent_p.F229F|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	229	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACAGGTTCGCGTTTTTTG	0.418																																																	0													101	97	99					1																	107867344		2203	4300	6503	SO:0001819	synonymous_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.687C>T	1.37:g.107867344C>T			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.F229	ENST00000370068.1	37	c.687	CCDS44180.1	1																																																																																			NTNG1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.418	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	C	NM_014917		107867344	1	no_errors	ENST00000370068	ensembl	human	known	70_37	silent	SNP	0.522	T	T	107867344	C	T	107867344	2	4	160	1	0	0	0	0	0	0	0	1	10728	883	31	1		1	NTNG1	1	107867344	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7384008	107867344	141383277	114	28387										
CLCC1	23155	genome.wustl.edu	37	chr1	109477521	109477521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgtgccttcccccaggattCcacctgtctccttgggcttt	9	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:109477521C>T	ENST00000369971.2	-	11	1556	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.G476E|CLCC1_ENST00000348264.2_Missense_Mutation_p.G291E|CLCC1_ENST00000369969.2_Missense_Mutation_p.G355E|CLCC1_ENST00000369970.3_Missense_Mutation_p.G426E|CLCC1_ENST00000415331.1_Missense_Mutation_p.G426E|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.G291E|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.G355E	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	476						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCCCAGGATTCCACCTGTCTC	0.428																																																	0													81	75	77					1																	109477521		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1427G>A	1.37:g.109477521C>T	ENSP00000358988:p.Gly476Glu		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.G476E	ENST00000369971.2	37	c.1427	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	5.293	0.239370	0.10023	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.84	-4.47	0.03525	.	1.621720	0.03006	N	0.148806	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25105	0.118;0.095;0.004;0.005	B;B;B;B	0.24155	0.046;0.051;0.006;0.007	T	0.06373	-1.0830	10	0.05620	T	0.96	-0.6002	5.5917	0.17305	0.2501:0.1566:0.0:0.5933	.	291;355;426;476	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	E	476;476;426;355;291;426;291;355	ENSP00000349456:G476E;ENSP00000358988:G476E;ENSP00000411591:G426E;ENSP00000358986:G355E;ENSP00000358985:G291E;ENSP00000358987:G426E;ENSP00000337243:G291E;ENSP00000306552:G355E	ENSP00000306552:G355E	G	-	2	0	CLCC1	109279044	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.378000	0.07446	-0.561000	0.06094	-0.345000	0.07892	GGA	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.428	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	C	NM_015127		109477521	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	missense	SNP	0.000	T	T	109477521	C	T	109477521	3	4	160	1	0	0	0	0	1	0	0	0	3465	855	30	1	232	1	CLCC1	1	109477521	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1610177	109477521	139773100	115	28388										
CELSR2	1952	genome.wustl.edu	37	chr1	109803758	109803758	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacctgctggtgggcggtttCaagtgcgattgcccatctgg	14	10	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:109803758C>T	ENST00000271332.3	+	3	4114	c.4053C>T	c.(4051-4053)ttC>ttT	p.F1351F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1351	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGGCGGTTTCAAGTGCGATT	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)												0													100	96	97					1																	109803758		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4053C>T	1.37:g.109803758C>T			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.F1351	ENST00000271332.3	37	c.4053	CCDS796.1	1																																																																																			CELSR2	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109803758	1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109803758	C	T	109803758	2	4	160	1	0	0	0	0	0	0	0	1	3227	825	29	1		1	CELSR2	1	109803758	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	326237	109803758	139446863	116	28389										
KCNA2	3737	genome.wustl.edu	37	chr1	111147189	111147189	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgaaaaagtactcatttcgGagggggtcaaagtacctcat	10	8	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:111147189G>A	ENST00000485317.1	-	3	889	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KCNA2_ENST00000440270.1_Silent_p.L72L|KCNA2_ENST00000316361.4_Silent_p.L72L|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Silent_p.L72L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	72					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ACTCATTTCGGAGGGGGTCAA	0.522																																					Pancreas(18;568 735 10587 23710 36357)												0													71	78	76					1																	111147189		2203	4300	6503	SO:0001819	synonymous_variant	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.216C>T	1.37:g.111147189G>A			Q86XG6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1	p.L72	ENST00000485317.1	37	c.216	CCDS827.1	1																																																																																			KCNA2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.522	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	G	NM_004974		111147189	-1	no_errors	ENST00000316361	ensembl	human	known	70_37	silent	SNP	1.000	A	A	111147189	G	A	111147189	2	1	160	1	0	0	0	0	0	0	0	1	8023	1161	41	1		1	KCNA2	1	111147189	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1343431	111147189	138103432	117	28390										
C1orf103	55791	genome.wustl.edu	37	chr1	111494681	111494681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaccacctttcaattgtgtCtctgtagcaacattctttgg	7	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:111494681C>G	ENST00000369763.4	-	2	1215	c.825G>C	c.(823-825)gaG>gaC	p.E275D	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAATTGTGTCTCTGTAGCAA	0.373																																																	0													160	153	155					1																	111494681		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.825G>C	1.37:g.111494681C>G	ENSP00000358778:p.Glu275Asp		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.E275D	ENST00000369763.4	37	c.825	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523468	0.27299	.	.	ENSG00000121931	ENST00000369763	T	0.23950	1.88	5.78	3.29	0.37713	.	0.354244	0.30235	N	0.010099	T	0.04407	0.0121	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.17137	-1.0379	10	0.32370	T	0.25	-4.4084	6.438	0.21835	0.1977:0.6691:0.0:0.1331	.	275	Q5T3J3	LRIF1_HUMAN	D	275	ENSP00000358778:E275D	ENSP00000358778:E275D	E	-	3	2	LRIF1	111296204	0.740000	0.28207	1.000000	0.80357	0.981000	0.71138	0.424000	0.21330	1.094000	0.41399	0.591000	0.81541	GAG	LRIF1	-	NULL		0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111494681	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	0.972	G	G	111494681	C	G	111494681	3	3	160	1	0	0	0	0	1	0	0	0	1982	912	32	1	1496	1	C1orf103	1	111494681	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	347492	111494681	137755940	118	28391										
DDX20	11218	genome.wustl.edu	37	chr1	112303677	112303677	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtttttgaggaaaagactCagcatttacaggaactgttc	10	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:112303677C>T	ENST00000369702.4	+	6	1512	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	298					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAAAGACTCAGCATTTACA	0.348																																																	0													139	143	141					1																	112303677		2203	4299	6502	SO:0001587	stop_gained	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.892C>T	1.37:g.112303677C>T	ENSP00000358716:p.Gln298*		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q298*	ENST00000369702.4	37	c.892	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.213104	0.99360	.	.	ENSG00000064703	ENST00000369702	.	.	.	5.62	4.65	0.58169	.	0.181706	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.1045	10.4205	0.44348	0.1322:0.6364:0.2314:0.0	.	.	.	.	X	298	.	ENSP00000358716:Q298X	Q	+	1	0	DDX20	112105200	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.524000	0.53495	2.663000	0.90544	0.561000	0.74099	CAG	DDX20	-	NULL		0.348	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	C	NM_007204		112303677	1	no_errors	ENST00000369702	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	112303677	C	T	112303677	4	4	160	1	0	0	0	0	0	1	0	0	4353	827	29	1	914	1	DDX20	1	112303677	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	808996	112303677	136946944	119	28392										
MOV10	4343	genome.wustl.edu	37	chr1	113240659	113240659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcctaaccagctctattatGaaggggagctgcaggcctgt	11	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:113240659G>A	ENST00000413052.2	+	15	2632	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.E748K|MOV10_ENST00000369644.1_Missense_Mutation_p.E692K|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.E748K	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	748					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTCTATTATGAAGGGGAGCT	0.607																																																	0													124	120	121					1																	113240659		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2242G>A	1.37:g.113240659G>A	ENSP00000399797:p.Glu748Lys		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.E748K	ENST00000413052.2	37	c.2242	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676744	0.67928	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.36	4.39	0.52855	.	0.662177	0.16330	N	0.219148	T	0.70378	0.3217	L	0.58583	1.82	0.80722	D	1	B	0.11235	0.004	B	0.25759	0.063	T	0.70385	-0.4886	10	0.49607	T	0.09	-0.1521	13.6006	0.62018	0.0:0.1552:0.8448:0.0	.	748	Q9HCE1	MOV10_HUMAN	K	748;748;692;748;686	ENSP00000399797:E748K;ENSP00000358659:E748K;ENSP00000358658:E692K;ENSP00000350028:E748K	ENSP00000350028:E748K	E	+	1	0	MOV10	113042182	1.000000	0.71417	0.160000	0.22671	0.857000	0.48899	4.087000	0.57671	2.532000	0.85374	0.556000	0.70494	GAA	MOV10	-	NULL		0.607	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	G	NM_020963		113240659	1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	0.851	A	A	113240659	G	A	113240659	3	1	160	1	0	0	0	0	1	0	0	0	9741	1291	45	1	2296	1	MOV10	1	113240659	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	936982	113240659	136009962	120	28393										
LRIG2	9860	genome.wustl.edu	37	chr1	113616103	113616103	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagtgctttctcggttactCttcattgcccagaccgctct	8	13	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:113616103C>T	ENST00000361127.5	+	1	273	c.75C>T	c.(73-75)ctC>ctT	p.L25L	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	25					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTCGGTTACTCTTCATTGCCC	0.662											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135	152	146					1																	113616103		2203	4300	6503	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.75C>T	1.37:g.113616103C>T		1451	Q9NSN2	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L25	ENST00000361127.5	37	c.75	CCDS30808.1	1																																																																																			LRIG2	-	NULL		0.662	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	C	NM_014813		113616103	1	no_errors	ENST00000361127	ensembl	human	known	70_37	silent	SNP	0.002	T	T	113616103	C	T	113616103	2	4	160	1	0	0	0	0	0	0	0	1	8968	900	32	1		1	LRIG2	1	113616103	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	375444	113616103	135634518	121	28394										
MAGI3	260425	genome.wustl.edu	37	chr1	114165542	114165542	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tactattattggtggagataGacctgatgagttcctacaag	10	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:114165542G>C	ENST00000307546.9	+	9	1361	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T	MAGI3_ENST00000369611.4_Missense_Mutation_p.R429T|MAGI3_ENST00000369615.1_Missense_Mutation_p.R429T|MAGI3_ENST00000369617.4_Missense_Mutation_p.R454T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	454					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGGAGATAGACCTGATGAG	0.398																																																	0													93	88	90					1																	114165542		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1286G>C	1.37:g.114165542G>C	ENSP00000304604:p.Arg429Thr		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R429T	ENST00000307546.9	37	c.1286	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954024	0.92660	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.20574	0.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.987;0.979	T	0.53143	-0.8480	10	0.87932	D	0	-25.2468	19.7821	0.96420	0.0:0.0:1.0:0.0	.	429;429;454	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	454;429;429;429	ENSP00000358630:R454T;ENSP00000304604:R429T;ENSP00000358628:R429T;ENSP00000358624:R429T	ENSP00000304604:R429T	R	+	2	0	MAGI3	113967065	1.000000	0.71417	0.933000	0.37362	0.834000	0.47266	7.609000	0.82925	2.682000	0.91365	0.655000	0.94253	AGA	MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114165542	1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	0.997	C	C	114165542	G	C	114165542	3	2	160	1	0	0	0	0	1	0	0	0	9215	942	33	1	1320	1	MAGI3	1	114165542	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	549439	114165542	135085079	122	28395										
AMPD1	270	genome.wustl.edu	37	chr1	115220031	115220031	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagtggatgcgattgcagacGaaccaggaggagagtttgct	15	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:115220031G>C	ENST00000520113.2	-	10	1443	c.1428C>G	c.(1426-1428)ttC>ttG	p.F476L	AMPD1_ENST00000369538.3_Missense_Mutation_p.F472L|AMPD1_ENST00000353928.6_Missense_Mutation_p.F443L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	476					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.F476L(1)|p.F443L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GATTGCAGACGAACCAGGAGG	0.562																																																	2	Substitution - Missense(2)	lung(2)											130	111	118					1																	115220031		2203	4300	6503	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1428C>G	1.37:g.115220031G>C	ENSP00000430075:p.Phe476Leu		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.F476L	ENST00000520113.2	37	c.1428	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800622	0.50315	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82167	-1.58;-1.58;-1.58	5.85	0.15	0.14883	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	L	0.49126	1.545	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.97	T	0.76534	-0.2924	10	0.23302	T	0.38	-19.9147	11.3336	0.49490	0.6802:0.0:0.3198:0.0	.	472;443	Q5TF02;P23109	.;AMPD1_HUMAN	L	476;472;443	ENSP00000430075:F476L;ENSP00000358551:F472L;ENSP00000316520:F443L	ENSP00000316520:F443L	F	-	3	2	AMPD1	115021554	0.840000	0.29493	0.989000	0.46669	0.480000	0.33159	-0.037000	0.12164	-0.148000	0.11234	-0.367000	0.07326	TTC	AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.562	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	G			115220031	-1	no_errors	ENST00000520113	ensembl	human	known	70_37	missense	SNP	0.995	C	C	115220031	G	C	115220031	3	2	160	1	0	0	0	0	1	0	0	0	585	1049	37	1	942	1	AMPD1	1	115220031	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1054489	115220031	134030590	123	28396										
PTGFRN	5738	genome.wustl.edu	37	chr1	117487580	117487580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcgacgcctaccgcctctCagtgtcccgggctctgtctg	11	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:117487580C>T	ENST00000393203.2	+	3	845	c.698C>T	c.(697-699)tCa>tTa	p.S233L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	233	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACCGCCTCTCAGTGTCCCGG	0.662																																																	0													35	35	35					1																	117487580		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.698C>T	1.37:g.117487580C>T	ENSP00000376899:p.Ser233Leu		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S233L	ENST00000393203.2	37	c.698	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664062	0.47572	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.02525	4.26	5.23	3.35	0.38373	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342432	0.32055	N	0.006654	T	0.01421	0.0046	M	0.69823	2.125	0.31569	N	0.65652	B	0.33448	0.412	B	0.34038	0.174	T	0.39860	-0.9593	10	0.11794	T	0.64	-11.2907	10.0	0.41922	0.0:0.8295:0.0:0.1705	.	233	Q9P2B2	FPRP_HUMAN	L	233;92	ENSP00000376899:S233L	ENSP00000376899:S233L	S	+	2	0	PTGFRN	117289103	0.542000	0.26426	0.730000	0.30809	0.966000	0.64601	2.017000	0.40981	1.221000	0.43506	0.561000	0.74099	TCA	PTGFRN	-	smart_Ig_sub,pfscan_Ig-like		0.662	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117487580	1	no_errors	ENST00000393203	ensembl	human	known	70_37	missense	SNP	0.773	T	T	117487580	C	T	117487580	3	4	160	1	0	0	0	0	1	0	0	0	12778	838	29	1	708	1	PTGFRN	1	117487580	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2267549	117487580	131763041	124	28397										
HSD3B1	3283	genome.wustl.edu	37	chr1	120056474	120056474	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggtacccagctcctgttaGaggcctgtgtccaagctagt	11	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:120056474G>C	ENST00000369413.3	+	4	473	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	HSD3B1_ENST00000528909.1_Missense_Mutation_p.E110Q|HSD3B1_ENST00000235547.6_Missense_Mutation_p.E112Q			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	110					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GCTCCTGTTAGAGGCCTGTGT	0.512																																																	0													232	233	233					1																	120056474		2203	4300	6503	SO:0001583	missense	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.328G>C	1.37:g.120056474G>C	ENSP00000358421:p.Glu110Gln		A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.E112Q	ENST00000369413.3	37	c.334	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276432	0.40294	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.89810	-2.57;-2.57;-2.57	3.7	2.76	0.32466	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.099722	0.64402	N	0.000002	D	0.82375	0.5023	M	0.65975	2.015	0.44110	D	0.996886	B;B	0.30889	0.299;0.294	B;B	0.35770	0.192;0.21	T	0.82159	-0.0595	10	0.59425	D	0.04	-20.8165	10.667	0.45736	0.0:0.221:0.779:0.0	.	112;110	Q5TDG2;P14060	.;3BHS1_HUMAN	Q	110;112;110	ENSP00000358421:E110Q;ENSP00000235547:E112Q;ENSP00000432268:E110Q	ENSP00000235547:E112Q	E	+	1	0	HSD3B1	119857997	1.000000	0.71417	0.856000	0.33681	0.572000	0.35998	3.321000	0.51999	0.833000	0.34828	0.491000	0.48974	GAG	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	G	NM_000862		120056474	1	no_errors	ENST00000235547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	120056474	G	C	120056474	3	2	160	1	0	0	0	0	1	0	0	0	7410	943	33	1	338	1	HSD3B1	1	120056474	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2568894	120056474	129194147	125	28398										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144866706	144866706	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccggatttcaccaagatgctCttccagcaggtcagcccctg	9	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:144866706C>G	ENST00000369354.3	-	34	5725	c.5536G>C	c.(5536-5538)Gag>Cag	p.E1846Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1740Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1846Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1982Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1931Q|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1846					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAAGATGCTCTTCCAGCAGG	0.597			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													88	90	90					1																	144866706		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5536G>C	1.37:g.144866706C>G	ENSP00000358360:p.Glu1846Gln		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E1846Q	ENST00000369354.3	37	c.5536	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.476697|4.476697	0.84640|0.84640	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.04706|.	3.57;3.79;3.78;3.89;3.84|.	5.13|5.13	4.19|4.19	0.49359|0.49359	.|.	.|.	.|.	.|.	.|.	T|T	0.68622|0.68622	0.3021|0.3021	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.77557|.	0.964;0.99|.	T|T	0.69800|0.69800	-0.5047|-0.5047	9|5	0.87932|.	D|.	0|.	.|.	11.8828|11.8828	0.52586|0.52586	0.0:0.9125:0.0:0.0875|0.0:0.9125:0.0:0.0875	.|.	1740;1846|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	Q|N	1740;1846;1846;1931;1982|2	ENSP00000327209:E1740Q;ENSP00000358360:E1846Q;ENSP00000358363:E1846Q;ENSP00000435654:E1931Q;ENSP00000358366:E1982Q|.	ENSP00000327209:E1740Q|.	E|K	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143578063|143578063	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	6.833000|6.833000	0.75334|0.75334	2.672000|2.672000	0.90937|0.90937	0.650000|0.650000	0.86243|0.86243	GAG|AAG	PDE4DIP	-	NULL		0.597	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144866706	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	G	G	144866706	C	G	144866706	3	3	160	1	0	0	0	0	1	0	0	0	11667	922	32	1	1548	1	PDE4DIP	1	144866706	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	24810232	144866706	104383915	126	28399										
POLR3C	10623	genome.wustl.edu	37	chr1	145596999	145596999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcttccacttgcttctgctCtatgtgtttcttctgcaaaa	6	11	5	0	rs587745036		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:145596999C>G	ENST00000334163.3	-	11	1286	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	POLR3C_ENST00000471254.1_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.E376Q	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	376					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGCTTCTGCTCTATGTGTTTC	0.408																																																	0													121	111	114					1																	145596999		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1126G>C	1.37:g.145596999C>G	ENSP00000334564:p.Glu376Gln		O15317|Q9Y3R6	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.E376Q	ENST00000334163.3	37	c.1126	CCDS921.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943553	0.92593	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.60548	0.3;0.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.929;0.999;0.991	T	0.77091	-0.2716	10	0.66056	D	0.02	-21.7575	17.8364	0.88699	0.0:1.0:0.0:0.0	.	376;376;376	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Q	376	ENSP00000334564:E376Q;ENSP00000358300:E376Q	ENSP00000334564:E376Q	E	-	1	0	POLR3C	144308356	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.376000	0.79658	2.884000	0.98904	0.655000	0.94253	GAG	POLR3C	-	NULL		0.408	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	HGNC	protein_coding	OTTHUMT00000038542.1	C	NM_006468		145596999	-1	no_errors	ENST00000334163	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145596999	C	G	145596999	3	3	160	1	0	0	0	0	1	0	0	0	12254	922	32	1	498	1	POLR3C	1	145596999	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	730293	145596999	103653622	127	28400										
FMO5	2330	genome.wustl.edu	37	chr1	146672800	146672800	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cataatggctcctaagggctGaatcaagcctatgattgcaa	9	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:146672800G>A	ENST00000254090.4	-	7	1505	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Nonsense_Mutation_p.Q373*	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	373						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CCTAAGGGCTGAATCAAGCCT	0.438																																																	0													105	103	104					1																	146672800		2203	4300	6503	SO:0001587	stop_gained	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1117C>T	1.37:g.146672800G>A	ENSP00000254090:p.Gln373*		B2RBG1|C9JJD1|Q8IV22	Nonsense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.Q373*	ENST00000254090.4	37	c.1117	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	41	9.096702	0.99064	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-17.4739	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000254090:Q373X	Q	-	1	0	FMO5	145139424	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.986000	0.88173	2.941000	0.99782	0.655000	0.94253	CAG	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.438	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	G	NM_001461		146672800	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	146672800	G	A	146672800	4	1	160	1	0	0	0	0	0	1	0	0	5976	1299	45	1	639	1	FMO5	1	146672800	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1075801	146672800	102577821	128	28401										
FMO5	2330	genome.wustl.edu	37	chr1	146672888	146672888	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcttgtttttgaccactttGacggaatcttccagaaacgg	8	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:146672888G>C	ENST00000254090.4	-	7	1417	c.1029C>G	c.(1027-1029)gtC>gtG	p.V343V	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.V343V	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	343						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGACCACTTTGACGGAATCTT	0.453																																																	0													106	104	105					1																	146672888		2203	4300	6503	SO:0001819	synonymous_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1029C>G	1.37:g.146672888G>C			B2RBG1|C9JJD1|Q8IV22	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.V343	ENST00000254090.4	37	c.1029	CCDS926.1	1																																																																																			FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	G	NM_001461		146672888	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	silent	SNP	0.997	C	C	146672888	G	C	146672888	2	2	160	1	0	0	0	0	0	0	0	1	5976	1277	45	1		1	FMO5	1	146672888	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	88	146672888	102577733	129	28402										
HIST2H2BE	8349	genome.wustl.edu	37	chr1	149857834	149857834	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggagctggtgtacttggtGaccgccttggtgccctcgga	15	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:149857834G>A	ENST00000369155.2	-	1	398	c.357C>T	c.(355-357)gtC>gtT	p.V119V	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	119					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGTACTTGGTGACCGCCTTGG	0.672																																																	0													30	34	33					1																	149857834		2202	4298	6500	SO:0001819	synonymous_variant	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.357C>T	1.37:g.149857834G>A			A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.V119	ENST00000369155.2	37	c.357	CCDS936.1	1																																																																																			HIST2H2BE	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.672	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	G	NM_003528		149857834	-1	no_errors	ENST00000369155	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149857834	G	A	149857834	2	1	160	1	0	0	0	0	0	0	0	1	7199	1277	45	1		1	HIST2H2BE	1	149857834	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3184946	149857834	99392787	130	28403										
MCL1	4170	genome.wustl.edu	37	chr1	150551522	150551522	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctctgctggcggcggcgtcGagggtagtgacccgtccgta	16	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:150551522G>C	ENST00000369026.2	-	1	544	c.485C>G	c.(484-486)tCg>tGg	p.S162W	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.S162W	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	162	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGGCGGCGTCGAGGGTAGTGA	0.647																																																	0													46	48	47					1																	150551522		2203	4300	6503	SO:0001583	missense	4170			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.485C>G	1.37:g.150551522G>C	ENSP00000358022:p.Ser162Trp		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	p.S162W	ENST00000369026.2	37	c.485	CCDS957.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548208	0.65311	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.04862	3.54;3.54	4.99	4.06	0.47325	.	0.898738	0.09470	N	0.797802	T	0.09158	0.0226	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.979	T	0.10823	-1.0613	10	0.87932	D	0	-2.8771	13.0244	0.58806	0.0:0.1634:0.8366:0.0	.	162;162	Q07820-2;Q07820	.;MCL1_HUMAN	W	162;162;91	ENSP00000358022:S162W;ENSP00000309973:S162W	ENSP00000309973:S162W	S	-	2	0	MCL1	148818146	1.000000	0.71417	0.999000	0.59377	0.471000	0.32888	2.707000	0.47143	1.289000	0.44618	0.655000	0.94253	TCG	MCL1	-	NULL		0.647	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCL1	HGNC	protein_coding	OTTHUMT00000084402.1	G	NM_021960		150551522	-1	no_errors	ENST00000369026	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150551522	G	C	150551522	3	2	160	1	0	0	0	0	1	0	0	0	9407	1059	37	1	590	1	MCL1	1	150551522	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	693688	150551522	98699099	131	28404										
FAM63A	55793	genome.wustl.edu	37	chr1	150974870	150974870	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggttggccccggtggagctGagctagcttcaggcagaggg	19	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:150974870G>C	ENST00000361936.5	-	3	1178	c.224C>G	c.(223-225)tCa>tGa	p.S75*	FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_5'UTR|FAM63A_ENST00000361738.6_Nonsense_Mutation_p.S123*	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	75						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGTGGAGCTGAGCTAGCTTC	0.607																																																	0													78	72	74					1																	150974870		2203	4300	6503	SO:0001587	stop_gained	55793			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.224C>G	1.37:g.150974870G>C	ENSP00000354814:p.Ser75*		B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Nonsense_Mutation	SNP	pfam_DUF544	p.S123*	ENST00000361936.5	37	c.368	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750797	0.69533	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	.	.	.	5.18	2.04	0.26737	.	1.044730	0.07562	N	0.917135	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.0121	8.2429	0.31671	0.2821:0.0:0.7179:0.0	.	.	.	.	X	75;123	.	ENSP00000354669:S123X	S	-	2	0	FAM63A	149241494	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	0.500000	0.22562	0.256000	0.21614	0.655000	0.94253	TCA	FAM63A	-	NULL		0.607	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	G	NM_018379		150974870	-1	no_errors	ENST00000361738	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	150974870	G	C	150974870	4	2	160	1	0	0	0	0	0	1	0	0	5614	1294	45	1	1221	1	FAM63A	1	150974870	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	423348	150974870	98275751	132	28405										
TUFT1	7286	genome.wustl.edu	37	chr1	151536388	151536388	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcttatttcaggtgtacttGaaggggaggtctggagacaa	13	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151536388G>C	ENST00000368849.3	+	4	308	c.246G>C	c.(244-246)ttG>ttC	p.L82F	TUFT1_ENST00000538902.1_Missense_Mutation_p.L101F|TUFT1_ENST00000392712.3_Missense_Mutation_p.L57F|TUFT1_ENST00000353024.3_Missense_Mutation_p.L23F|TUFT1_ENST00000368848.2_Missense_Mutation_p.L57F|RP11-74C1.4_ENST00000434112.1_RNA	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	82					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGTACTTGAAGGGGAGGT	0.423																																																	0													134	123	126					1																	151536388		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.246G>C	1.37:g.151536388G>C	ENSP00000357842:p.Leu82Phe		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.L101F	ENST00000368849.3	37	c.303	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618947	0.66787	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T;T	0.43688	1.36;0.94;1.38;1.48;1.3	5.25	4.28	0.50868	.	0.000000	0.64402	D	0.000004	T	0.54143	0.1840	M	0.73598	2.24	0.47214	D	0.999355	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.57871	-0.7736	10	0.66056	D	0.02	-7.5676	10.9988	0.47593	0.0:0.1884:0.8116:0.0	.	101;57;82	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	F	82;57;23;57;57;101;57	ENSP00000357842:L82F;ENSP00000376476:L57F;ENSP00000343781:L23F;ENSP00000357841:L57F;ENSP00000437997:L101F	ENSP00000343781:L23F	L	+	3	2	TUFT1	149803012	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.854000	0.27791	2.457000	0.83068	0.563000	0.77884	TTG	TUFT1	-	NULL		0.423	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151536388	1	no_errors	ENST00000538902	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151536388	G	C	151536388	3	2	160	1	0	0	0	0	1	0	0	0	16803	1281	45	1	260	1	TUFT1	1	151536388	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	561518	151536388	97714233	133	28406										
OAZ3	51686	genome.wustl.edu	37	chr1	151739351	151739351	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccgggagaagatgctgcctCgttgttataaaaggtacttg	12	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151739351C>T	ENST00000479764.1	+	0	3298				OAZ3_ENST00000453029.2_Intron|RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000321531.5_Intron|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3						cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GATGCTGCCTCGTTGTTATAA	0.378																																																	0													72	62	65					1																	151739351		1878	4101	5979	SO:0001623	5_prime_UTR_variant	51686			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000479764.1:c.-219C>T	1.37:g.151739351C>T			E7EUE7|Q6GMR0	RNA	SNP	-	NULL	ENST00000479764.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152900	0.38021	.	.	ENSG00000143450	ENST00000321531	.	.	.	2.79	1.49	0.22878	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07195	-1.0785	5	0.21014	T	0.42	7.1908	4.6476	0.12579	0.0:0.16:0.0:0.84	.	.	.	.	C	52	.	ENSP00000313922:R52C	R	+	1	0	OAZ3	150005975	1.000000	0.71417	0.987000	0.45799	0.640000	0.38277	1.433000	0.34947	0.460000	0.27045	-0.672000	0.03802	CGT	OAZ3	-	-		0.378	OAZ3-001	PUTATIVE	basic|exp_conf	protein_coding	OAZ3	HGNC	protein_coding	OTTHUMT00000036642.2	C	NM_016178		151739351	1	no_errors	ENST00000577465	ensembl	human	known	70_37	rna	SNP	0.993	T	T	151739351	C	T	151739351	1	4	160	0	1	0	0	0	0	0	0	0	10830	884	31	1		1	OAZ3	1	151739351	5'UTR	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	202963	151739351	97511270	134	28407										
LINGO4	339398	genome.wustl.edu	37	chr1	151773446	151773446	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acccccagagtttttatcccCagagggccgaggtgccacaa	10	14	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151773446C>G	ENST00000368820.3	-	2	2672	c.1735G>C	c.(1735-1737)Ggg>Cgg	p.G579R	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	579						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTTATCCCCAGAGGGCCGA	0.557																																																	0													67	71	69					1																	151773446		2203	4300	6503	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1735G>C	1.37:g.151773446C>G	ENSP00000357810:p.Gly579Arg			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G579R	ENST00000368820.3	37	c.1735	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943130	0.53079	.	.	ENSG00000213171	ENST00000368820	T	0.59906	0.23	5.32	5.32	0.75619	.	0.000000	0.48767	D	0.000162	T	0.58047	0.2095	L	0.43923	1.385	0.40198	D	0.97748	D	0.71674	0.998	D	0.68621	0.959	T	0.63129	-0.6706	10	0.87932	D	0	.	9.8267	0.40916	0.0:0.9099:0.0:0.0901	.	579	Q6UY18	LIGO4_HUMAN	R	579	ENSP00000357810:G579R	ENSP00000357810:G579R	G	-	1	0	LINGO4	150040070	0.913000	0.31002	0.999000	0.59377	0.992000	0.81027	1.781000	0.38644	2.760000	0.94817	0.655000	0.94253	GGG	LINGO4	-	NULL		0.557	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	C	XM_291387		151773446	-1	no_errors	ENST00000368820	ensembl	human	known	70_37	missense	SNP	0.960	G	G	151773446	C	G	151773446	3	3	160	1	0	0	0	0	1	0	0	0	8838	594	21	4	50	4	LINGO4	1	151773446	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	34095	151773446	97477175	135	28408										
RORC	6097	genome.wustl.edu	37	chr1	151780038	151780038	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcttggaccacgatggggtgGaggtgctggaagatctgcag	18	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:151780038G>C	ENST00000318247.6	-	11	1574	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	RORC_ENST00000480719.1_5'UTR|LINGO4_ENST00000368820.3_5'Flank|RORC_ENST00000392697.3_Silent_p.L543L|RORC_ENST00000356728.6_Silent_p.L468L	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	489	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGATGGGGTGGAGGTGCTGGA	0.582																																																	0													129	119	122					1																	151780038		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1467C>G	1.37:g.151780038G>C			Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.L543	ENST00000318247.6	37	c.1629	CCDS1004.1	1																																																																																			RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.582	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151780038	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	silent	SNP	0.998	C	C	151780038	G	C	151780038	2	2	160	1	0	0	0	0	0	0	0	1	13560	1161	41	1		1	RORC	1	151780038	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6592	151780038	97470583	136	28409										
TCHH	7062	genome.wustl.edu	37	chr1	152082063	152082063	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatcccggtatcgctgcttCcttttctggcgctgaagctc	9	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152082063C>T	ENST00000368804.1	-	2	3629	c.3630G>A	c.(3628-3630)agG>agA	p.R1210R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1210					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCGCTGCTTCCTTTTCTGGC	0.527																																																	0													120	119	119					1																	152082063		2089	4212	6301	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3630G>A	1.37:g.152082063C>T			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R1210	ENST00000368804.1	37	c.3630	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.527	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152082063	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent	SNP	0.000	T	T	152082063	C	T	152082063	2	4	160	1	0	0	0	0	0	0	0	1	15730	854	30	1		1	TCHH	1	152082063	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	302025	152082063	97168558	137	28410										
TCHH	7062	genome.wustl.edu	37	chr1	152083115	152083115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggcttcgcctcctctcctGatcctcctggaggccgtcct	9	18	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152083115G>C	ENST00000368804.1	-	2	2577	c.2578C>G	c.(2578-2580)Cag>Gag	p.Q860E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	860					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTCTCCTGATCCTCCTGG	0.627																																																	0													71	78	76					1																	152083115		2060	4184	6244	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2578C>G	1.37:g.152083115G>C	ENSP00000357794:p.Gln860Glu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Q860E	ENST00000368804.1	37	c.2578	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	1.362	-0.588488	0.03799	.	.	ENSG00000159450	ENST00000368804	T	0.08720	3.06	3.92	-1.2	0.09554	.	.	.	.	.	T	0.00784	0.0026	N	0.12746	0.255	0.09310	N	1	B	0.21606	0.058	B	0.20384	0.029	T	0.47058	-0.9146	9	0.02654	T	1	-3.5678	2.784	0.05369	0.0997:0.1505:0.4436:0.3062	.	860	Q07283	TRHY_HUMAN	E	860	ENSP00000357794:Q860E	ENSP00000357794:Q860E	Q	-	1	0	TCHH	150349739	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.612000	0.05616	0.098000	0.17522	0.450000	0.29827	CAG	TCHH	-	NULL		0.627	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	G	NM_007113		152083115	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152083115	G	C	152083115	3	2	160	1	0	0	0	0	1	0	0	0	15730	1299	45	1	3257	1	TCHH	1	152083115	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1052	152083115	97167506	138	28411										
FLG	2312	genome.wustl.edu	37	chr1	152279231	152279231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgatgggacccagcctgtcCgtgggctgacactgactgtg	14	12	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152279231C>T	ENST00000368799.1	-	3	8166	c.8131G>A	c.(8131-8133)Gga>Aga	p.G2711R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2711	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCTGTCCGTGGGCTGAC	0.572									Ichthyosis																																								0													6	9	8					1																	152279231		1448	3562	5010	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8131G>A	1.37:g.152279231C>T	ENSP00000357789:p.Gly2711Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G2711R	ENST00000368799.1	37	c.8131	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482734	0.26598	.	.	ENSG00000143631	ENST00000368799	T	0.07688	3.17	4.13	-6.3	0.02007	.	.	.	.	.	T	0.00906	0.0030	N	0.12887	0.27	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.48647	-0.9017	9	0.14252	T	0.57	.	5.9829	0.19417	0.0:0.2326:0.2501:0.5173	.	2711	P20930	FILA_HUMAN	R	2711	ENSP00000357789:G2711R	ENSP00000357789:G2711R	G	-	1	0	FLG	150545855	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.758000	0.04766	-1.357000	0.02180	-0.683000	0.03753	GGA	FLG	-	NULL		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152279231	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152279231	C	T	152279231	3	4	160	1	0	0	0	0	1	0	0	0	5940	661	23	2	4058	2	FLG	1	152279231	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	196116	152279231	96971390	139	28412										
FLG	2312	genome.wustl.edu	37	chr1	152279801	152279801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggagccgtctcctgattgttCatcgttacgagtttgtctgc	11	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152279801C>T	ENST00000368799.1	-	3	7596	c.7561G>A	c.(7561-7563)Gaa>Aaa	p.E2521K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2521	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTCATCGTTACGA	0.587									Ichthyosis																																								0													356	332	340					1																	152279801		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7561G>A	1.37:g.152279801C>T	ENSP00000357789:p.Glu2521Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E2521K	ENST00000368799.1	37	c.7561	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532640	0.13127	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.97	0.921	0.19403	.	.	.	.	.	T	0.00695	0.0023	M	0.81682	2.555	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.48479	-0.9032	9	0.22706	T	0.39	.	6.0279	0.19665	0.0:0.6712:0.3288:0.0	.	2521	P20930	FILA_HUMAN	K	2521	ENSP00000357789:E2521K	ENSP00000357789:E2521K	E	-	1	0	FLG	150546425	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.634000	0.05477	0.118000	0.18165	0.306000	0.20318	GAA	FLG	-	NULL		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152279801	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152279801	C	T	152279801	3	4	160	1	0	0	0	0	1	0	0	0	5940	835	29	1	4628	1	FLG	1	152279801	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	570	152279801	96970820	140	28413										
FLG2	388698	genome.wustl.edu	37	chr1	152327330	152327330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggattttcctgagcctgactCatgttgtccaaagccagagg	11	10	1	3	rs374118925		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152327330C>T	ENST00000388718.5	-	3	3004	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	978	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E978Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGACTCATGTTGTCCA	0.493																																																	1	Substitution - Missense(1)	lung(1)						C	LYS/GLU	0,4406		0,0,2203	260	262	262		2932	3.2	0.1	1		262	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG2	NM_001014342.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	978/2392	152327330	1,13005	2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2932G>A	1.37:g.152327330C>T	ENSP00000373370:p.Glu978Lys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E978K	ENST00000388718.5	37	c.2932	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580198	0.28180	0.0	1.16E-4	ENSG00000143520	ENST00000388718	T	0.03801	3.8	4.17	3.2	0.36748	.	.	.	.	.	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	B	0.23058	0.079	B	0.23574	0.047	T	0.44620	-0.9316	9	0.10377	T	0.69	0.044	9.9483	0.41623	0.0:0.7943:0.2057:0.0	.	978	Q5D862	FILA2_HUMAN	K	978	ENSP00000373370:E978K	ENSP00000373370:E978K	E	-	1	0	FLG2	150593954	0.000000	0.05858	0.136000	0.22124	0.018000	0.09664	0.085000	0.14912	2.160000	0.67779	0.561000	0.74099	GAG	FLG2	-	NULL		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152327330	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.392	T	T	152327330	C	T	152327330	3	4	160	1	0	0	0	0	1	0	0	0	5941	835	29	1	4247	1	FLG2	1	152327330	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	47529	152327330	96923291	141	28414										
SPRR1A	6698	genome.wustl.edu	37	chr1	152957716	152957716	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatttgaagcatgaattctCagcagcagaagcagccttgc	9	10	1	3	rs199891940		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:152957716C>T	ENST00000368762.1	+	1	10	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	SPRR1A_ENST00000307122.2_Nonsense_Mutation_p.Q4*			P35321	SPR1A_HUMAN	small proline-rich protein 1A	4	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGAATTCTCAGCAGCAGAA	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		16648	0		0	False		,,,				2504	0																0																																										SO:0001587	stop_gained	6698			L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.10C>T	1.37:g.152957716C>T	ENSP00000357751:p.Gln4*		B1AN47|D3DV31|Q2M303|Q9UDG4	Nonsense_Mutation	SNP	pfam_Cornifin	p.Q4*	ENST00000368762.1	37	c.10	CCDS1032.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698621	0.88830	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	.	.	.	5.35	4.43	0.53597	.	1.352220	0.05570	N	0.570953	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3607	12.1717	0.54163	0.0:0.8282:0.1718:0.0	.	.	.	.	X	4	.	ENSP00000307340:Q4X	Q	+	1	0	SPRR1A	151224340	0.820000	0.29190	0.995000	0.50966	0.602000	0.36980	0.820000	0.27323	1.234000	0.43709	0.555000	0.69702	CAG	SPRR1A	-	NULL		0.463	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR1A	HGNC	protein_coding	OTTHUMT00000040062.1	C	NM_005987		152957716	1	no_errors	ENST00000307122	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	152957716	C	T	152957716	4	4	160	1	0	0	0	0	0	1	0	0	15125	827	29	1	12	1	SPRR1A	1	152957716	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	630386	152957716	96292905	142	28415										
INTS3	65123	genome.wustl.edu	37	chr1	153701255	153701255	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggatgccaaggatgagttaGaggaggtaggtgtgggggga	21	2	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:153701255G>C	ENST00000318967.2	+	1	713	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	Y_RNA_ENST00000362695.1_RNA|INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.E49Q	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	49					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGATGAGTTAGAGGAGGTAGG	0.632																																																	0													57	67	63					1																	153701255		2200	4287	6487	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.145G>C	1.37:g.153701255G>C	ENSP00000318641:p.Glu49Gln		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.E49Q	ENST00000318967.2	37	c.145	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953147	0.53293	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.07	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.66297	2.02	0.80722	D	1	B	0.23891	0.093	B	0.28784	0.094	T	0.48681	-0.9014	9	0.62326	D	0.03	.	7.3534	0.26704	0.1958:0.0:0.8042:0.0	.	49	Q68E01-2	.	Q	49	.	ENSP00000318641:E49Q	E	+	1	0	INTS3	151967879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.550000	0.60733	0.720000	0.32209	0.455000	0.32223	GAG	INTS3	-	NULL		0.632	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	G	NM_023015		153701255	1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153701255	G	C	153701255	3	2	160	1	0	0	0	0	1	0	0	0	7799	943	33	1	147	1	INTS3	1	153701255	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	743539	153701255	95549366	143	28416										
ATP8B2	57198	genome.wustl.edu	37	chr1	154306644	154306644	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcagcggaaccctctactgGaaggaaaataagttccctct	8	11	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:154306644G>A	ENST00000368489.3	+	10	750	c.750G>A	c.(748-750)tgG>tgA	p.W250*	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Nonsense_Mutation_p.W236*|ATP8B2_ENST00000368487.3_Nonsense_Mutation_p.W217*	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	236					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCTCTACTGGAAGGAAAATA	0.512																																																	0													216	225	222					1																	154306644		2203	4300	6503	SO:0001587	stop_gained	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.750G>A	1.37:g.154306644G>A	ENSP00000357475:p.Trp250*		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.W250*	ENST00000368489.3	37	c.750	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.185540	0.97357	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	.	.	.	5.3	5.3	0.74995	.	0.069961	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4199	0.60992	0.0:0.1576:0.8424:0.0	.	.	.	.	X	217;250;236	.	ENSP00000340448:W236X	W	+	3	0	ATP8B2	152573268	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.665000	0.83852	2.761000	0.94854	0.591000	0.81541	TGG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.512	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	G	NM_020452		154306644	1	no_errors	ENST00000368489	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	154306644	G	A	154306644	4	1	160	1	0	0	0	0	0	1	0	0	1196	1183	41	1	788	1	ATP8B2	1	154306644	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	605389	154306644	94943977	144	28417										
KCNN3	3782	genome.wustl.edu	37	chr1	154744744	154744744	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggccaggcgtgccgtccaGaagaacttgtactcgccagg	13	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:154744744G>A	ENST00000271915.4	-	3	1470	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	KCNN3_ENST00000361147.4_Silent_p.F80F|KCNN3_ENST00000358505.2_Silent_p.F72F	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	390					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTGCCGTCCAGAAGAACTTGT	0.597																																																	0													65	60	62					1																	154744744		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1155C>T	1.37:g.154744744G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.F385	ENST00000271915.4	37	c.1155	CCDS30880.1	1																																																																																			KCNN3	-	pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK		0.597	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154744744	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154744744	G	A	154744744	2	1	160	1	0	0	0	0	0	0	0	1	8100	933	33	1		1	KCNN3	1	154744744	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	438100	154744744	94505877	145	28418										
DPM3	54344	genome.wustl.edu	37	chr1	155112441	155112441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaatggggttaggctgtcaGaagcgcagccccctgcgggc	17	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155112441G>A	ENST00000341298.3	-	2	411	c.276C>T	c.(274-276)ttC>ttT	p.F92F	DPM3_ENST00000368399.1_Silent_p.F122F|DPM3_ENST00000368400.4_Silent_p.F92F			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	92					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCTGTCAGAAGCGCAGCC	0.547																																																	0													63	69	67					1																	155112441		2203	4300	6503	SO:0001819	synonymous_variant	54344			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.276C>T	1.37:g.155112441G>A			Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	pfam_DPM3	p.F122	ENST00000341298.3	37	c.366	CCDS1095.1	1																																																																																			DPM3	-	NULL		0.547	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPM3	HGNC	protein_coding	OTTHUMT00000085519.1	G	NM_153741		155112441	-1	no_errors	ENST00000368399	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155112441	G	A	155112441	2	1	160	1	0	0	0	0	0	0	0	1	4736	933	33	1		1	DPM3	1	155112441	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	367697	155112441	94138180	146	28419										
THBS3	7059	genome.wustl.edu	37	chr1	155167871	155167871	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtttgggtcaatctgagcatCaccctcaggatccaggacga	11	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155167871C>T	ENST00000368378.3	-	18	2235	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.D268N|THBS3_ENST00000541576.1_Missense_Mutation_p.D136N|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D619N|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	739	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D739H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCTGAGCATCACCCTCAGGA	0.587																																																	1	Substitution - Missense(1)	ovary(1)											123	103	110					1																	155167871		2203	4300	6503	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2215G>A	1.37:g.155167871C>T	ENSP00000357362:p.Asp739Asn		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D739N	ENST00000368378.3	37	c.2215	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606387	0.87157	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.76838	2.35	0.80722	D	1	P;D;D;D	0.76494	0.753;0.999;0.987;0.999	B;D;P;D	0.66497	0.139;0.944;0.817;0.944	D	0.94536	0.7740	10	0.87932	D	0	-19.0798	15.9977	0.80265	0.0:1.0:0.0:0.0	.	619;739;739;739	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	N	739;136;619;268	ENSP00000357362:D739N;ENSP00000444792:D136N;ENSP00000392207:D619N;ENSP00000437353:D268N	ENSP00000357362:D739N	D	-	1	0	THBS3	153434495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.639000	0.89480	0.563000	0.77884	GAT	THBS3	-	superfamily_ConA-like_lec_gl_sf		0.587	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	C	NM_007112		155167871	-1	no_errors	ENST00000368378	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155167871	C	T	155167871	3	4	160	1	0	0	0	0	1	0	0	0	15885	826	29	1	679	1	THBS3	1	155167871	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	55430	155167871	94082750	147	28420										
FAM189B	10712	genome.wustl.edu	37	chr1	155220086	155220086	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagtgtcactggaggtcgtGatgcctgggtcgctgtggga	17	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155220086G>A	ENST00000361361.2	-	9	2000	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	FAM189B_ENST00000368368.3_Silent_p.I479I|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Silent_p.I401I	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	497						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGAGGTCGTGATGCCTGGGT	0.672																																																	0													21	17	18					1																	155220086		1793	3317	5110	SO:0001819	synonymous_variant	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1491C>T	1.37:g.155220086G>A			B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	pfam_CD20-like	p.I497	ENST00000361361.2	37	c.1491	CCDS1103.1	1																																																																																			FAM189B	-	NULL		0.672	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	G	NM_006589		155220086	-1	no_errors	ENST00000361361	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155220086	G	A	155220086	2	1	160	1	0	0	0	0	0	0	0	1	5532	1280	45	1		1	FAM189B	1	155220086	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	52215	155220086	94030535	148	28421										
SCAMP3	10067	genome.wustl.edu	37	chr1	155230175	155230175	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgctcccttcggtccaactCctctgccttccggttgagct	8	17	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155230175C>G	ENST00000302631.3	-	4	441	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000355379.3_Missense_Mutation_p.E86Q|CLK2_ENST00000497188.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	112					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGTCCAACTCCTCTGCCTTC	0.592																																																	0													94	84	88					1																	155230175		2203	4300	6503	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.334G>C	1.37:g.155230175C>G	ENSP00000307275:p.Glu112Gln		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.E112Q	ENST00000302631.3	37	c.334	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	27.9	4.869845	0.91587	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.26660	1.99;1.72	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.71206	2.165	0.80722	D	1	D;P;D	0.56035	0.974;0.847;0.961	P;P;B	0.56278	0.795;0.73;0.335	T	0.22765	-1.0207	10	0.87932	D	0	-6.0874	15.0884	0.72174	0.0:1.0:0.0:0.0	.	112;86;112	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	Q	112;86	ENSP00000307275:E112Q;ENSP00000347540:E86Q	ENSP00000307275:E112Q	E	-	1	0	SCAMP3	153496799	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.949000	0.75971	2.415000	0.81967	0.650000	0.86243	GAG	SCAMP3	-	NULL		0.592	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155230175	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155230175	C	G	155230175	3	3	160	1	0	0	0	0	1	0	0	0	13902	864	30	1	733	1	SCAMP3	1	155230175	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	10089	155230175	94020446	149	28422										
PKLR	5313	genome.wustl.edu	37	chr1	155263012	155263012	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggcagcagcacagcacttGaaggcagcctccacagcacc	10	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155263012G>C	ENST00000342741.4	-	9	1430	c.1392C>G	c.(1390-1392)ttC>ttG	p.F464L	PKLR_ENST00000392414.3_Missense_Mutation_p.F433L	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	464					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CACAGCACTTGAAGGCAGCCT	0.602																																																	0													91	79	83					1																	155263012		2203	4300	6503	SO:0001583	missense	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1392C>G	1.37:g.155263012G>C	ENSP00000339933:p.Phe464Leu		O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.F464L	ENST00000342741.4	37	c.1392	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596590	0.66332	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.98987	-5.3;-5.3	4.54	4.54	0.55810	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.106409	0.64402	D	0.000004	D	0.96673	0.8914	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.63046	0.992;0.992	P;P	0.55999	0.789;0.681	D	0.94429	0.7648	10	0.12103	T	0.63	-14.2989	8.6913	0.34269	0.102:0.0:0.898:0.0	.	464;455	P30613;B1AVT1	KPYR_HUMAN;.	L	489;433;464;378	ENSP00000376214:F433L;ENSP00000339933:F464L	ENSP00000271946:F378L	F	-	3	2	PKLR	153529636	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.754000	0.62191	2.530000	0.85305	0.561000	0.74099	TTC	PKLR	-	pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase		0.602	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	G	NM_000298		155263012	-1	no_errors	ENST00000342741	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155263012	G	C	155263012	3	2	160	1	0	0	0	0	1	0	0	0	12000	1281	45	1	344	1	PKLR	1	155263012	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32837	155263012	93987609	150	28423										
RUSC1	23623	genome.wustl.edu	37	chr1	155296726	155296726	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgacccaggcctcccgggtCtatgcctctgggggcactga	13	14	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155296726C>G	ENST00000368352.5	+	8	2368	c.2217C>G	c.(2215-2217)gtC>gtG	p.V739V	RUSC1_ENST00000368349.4_Silent_p.V270V|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Silent_p.V270V|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Silent_p.V633V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Silent_p.V329V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	739					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCCCGGGTCTATGCCTCTG	0.627																																																	0													36	42	40					1																	155296726		2203	4300	6503	SO:0001819	synonymous_variant	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2217C>G	1.37:g.155296726C>G			B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.V739	ENST00000368352.5	37	c.2217	CCDS41410.1	1																																																																																			RUSC1	-	NULL		0.627	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155296726	1	no_errors	ENST00000368352	ensembl	human	known	70_37	silent	SNP	1.000	G	G	155296726	C	G	155296726	2	3	160	1	0	0	0	0	0	0	0	1	13780	900	32	1		1	RUSC1	1	155296726	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	33714	155296726	93953895	151	28424										
DAP3	7818	genome.wustl.edu	37	chr1	155707959	155707959	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccattttagctcctacagaaGaagggaaaaaagagctgctg	10	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155707959G>C	ENST00000368336.5	+	13	1247	c.1123G>C	c.(1123-1125)Gaa>Caa	p.E375Q	DAP3_ENST00000471642.2_Missense_Mutation_p.E334Q|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.E334Q|DAP3_ENST00000343043.3_Missense_Mutation_p.E375Q|DAP3_ENST00000421487.2_Missense_Mutation_p.E341Q|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	375					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCTACAGAAGAAGGGAAAAA	0.502																																																	0													114	92	99					1																	155707959		2203	4300	6503	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.1123G>C	1.37:g.155707959G>C	ENSP00000357320:p.Glu375Gln		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.E375Q	ENST00000368336.5	37	c.1123	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063675	0.55432	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.51325	0.89;0.89;0.71;0.89	4.87	4.87	0.63330	.	0.327128	0.35646	N	0.003069	T	0.60996	0.2312	M	0.80183	2.485	0.54753	D	0.999989	P;P;P;D	0.53745	0.848;0.934;0.848;0.962	P;P;P;P	0.59012	0.791;0.791;0.791;0.85	T	0.63928	-0.6526	10	0.52906	T	0.07	-3.717	17.1	0.86645	0.0:0.0:1.0:0.0	.	334;341;341;375	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	Q	375;375;341;334	ENSP00000357320:E375Q;ENSP00000341692:E375Q;ENSP00000412605:E341Q;ENSP00000445003:E334Q	ENSP00000341692:E375Q	E	+	1	0	DAP3	153974583	1.000000	0.71417	0.459000	0.27081	0.024000	0.10985	6.904000	0.75708	2.665000	0.90641	0.655000	0.94253	GAA	DAP3	-	pfam_Ribosomal_S23/S29_mit		0.502	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	G	NM_004632		155707959	1	no_errors	ENST00000343043	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155707959	G	C	155707959	3	2	160	1	0	0	0	0	1	0	0	0	4239	943	33	1	1169	1	DAP3	1	155707959	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	411233	155707959	93542662	152	28425										
GON4L	54856	genome.wustl.edu	37	chr1	155823271	155823271	+	Nonsense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaaggtagggtgattccctGagagatggccacatcaacac							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155823271G>A	ENST00000368331.1	-	2	349	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q101*|GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q101*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q101*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	101					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGATTCCCTGAGAGATGGCC	0.443																																																	0													174	162	166					1																	155823271		2203	4300	6503	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.301C>T	1.37:g.155823271G>A	ENSP00000357315:p.Gln101*		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q101*	ENST00000368331.1	37	c.301		1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785221	0.90282	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	.	.	.	4.48	3.55	0.40652	.	0.169473	0.28683	N	0.014493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5912	0.39548	0.0:0.0:0.7907:0.2092	.	.	.	.	X	101	.	ENSP00000271883:Q101X	Q	-	1	0	GON4L	154089895	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	2.676000	0.46883	1.061000	0.40601	0.561000	0.74099	CAG	GON4L	-	NULL		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155823271	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	155823271	G	A	155823271	4	1	160	1	0	0	0	0	0	1	0	0	6591	1299	45	1	6662	1	GON4L	1	155823271	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	115312	155823271	93427350	153	28426	176	2								
GON4L	54856	genome.wustl.edu	37	chr1	155823273	155823273	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggtagggtgattccctgaGagatggccacatcaacacct							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155823273G>A	ENST00000368331.1	-	2	347	c.299C>T	c.(298-300)tCt>tTt	p.S100F	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.S100F|GON4L_ENST00000437809.1_Missense_Mutation_p.S100F|GON4L_ENST00000361040.5_Missense_Mutation_p.S100F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	100					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATTCCCTGAGAGATGGCCAC	0.453																																																	0													176	165	169					1																	155823273		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.299C>T	1.37:g.155823273G>A	ENSP00000357315:p.Ser100Phe		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.S100F	ENST00000368331.1	37	c.299		1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293807	0.60086	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14640	2.69;2.69;2.69;2.49	4.48	4.48	0.54585	.	0.159482	0.30201	N	0.010166	T	0.10252	0.0251	L	0.34521	1.04	0.30860	N	0.733601	P;P;P	0.48503	0.899;0.856;0.911	P;P;P	0.52554	0.471;0.507;0.702	T	0.01420	-1.1359	10	0.62326	D	0.03	.	12.5216	0.56062	0.0:0.0:1.0:0.0	.	100;100;100	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	F	100	ENSP00000396117:S100F;ENSP00000357315:S100F;ENSP00000271883:S100F;ENSP00000354322:S100F	ENSP00000271883:S100F	S	-	2	0	GON4L	154089897	1.000000	0.71417	0.974000	0.42286	0.592000	0.36648	4.200000	0.58433	2.308000	0.77769	0.561000	0.74099	TCT	GON4L	-	NULL		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155823273	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.972	A	A	155823273	G	A	155823273	3	1	160	1	0	0	0	0	1	0	0	0	6591	942	33	1	6664	1	GON4L	1	155823273	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2	155823273	93427348	154	28427	176	2								
SYT11	23208	genome.wustl.edu	37	chr1	155851212	155851212	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcctgggggcacacagtgtCacagccagtggtgctgaaca	13	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155851212C>G	ENST00000368324.4	+	4	1462	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	SYT11_ENST00000539162.1_Silent_p.V96V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	403					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CACACAGTGTCACAGCCAGTG	0.572																																																	0													107	113	111					1																	155851212		2203	4300	6503	SO:0001819	synonymous_variant	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1209C>G	1.37:g.155851212C>G			Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.V403	ENST00000368324.4	37	c.1209	CCDS1122.1	1																																																																																			SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	C	NM_152280		155851212	1	no_errors	ENST00000368324	ensembl	human	known	70_37	silent	SNP	1.000	G	G	155851212	C	G	155851212	2	3	160	1	0	0	0	0	0	0	0	1	15497	813	29	1		1	SYT11	1	155851212	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	27939	155851212	93399409	155	28428										
SYT11	23208	genome.wustl.edu	37	chr1	155851247	155851247	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaacactggagagaggtctGcgagagcccccgcaagcctg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155851247G>A	ENST00000368324.4	+	4	1497	c.1244G>A	c.(1243-1245)tGc>tAc	p.C415Y	SYT11_ENST00000539162.1_Missense_Mutation_p.C108Y	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	415					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGAGAGGTCTGCGAGAGCCCC	0.597																																																	0													55	63	61					1																	155851247		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1244G>A	1.37:g.155851247G>A	ENSP00000357307:p.Cys415Tyr		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.C415Y	ENST00000368324.4	37	c.1244	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574847	0.86542	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.71103	-0.54;-0.54	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82153	-0.0598	10	0.87932	D	0	.	18.6819	0.91549	0.0:0.0:1.0:0.0	.	415	Q9BT88	SYT11_HUMAN	Y	415;108	ENSP00000357307:C415Y;ENSP00000441657:C108Y	ENSP00000357307:C415Y	C	+	2	0	SYT11	154117871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.790000	0.85794	2.748000	0.94277	0.655000	0.94253	TGC	SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.597	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155851247	1	no_errors	ENST00000368324	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155851247	G	A	155851247	3	1	160	1	0	0	0	0	1	0	0	0	15497	1319	46	4	1258	4	SYT11	1	155851247	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	35	155851247	93399374	156	28429	177	2								
SYT11	23208	genome.wustl.edu	37	chr1	155851251	155851251	+	Silent	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactggagagaggtctgcgaGagcccccgcaagcctgtggc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:155851251G>A	ENST00000368324.4	+	4	1501	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	SYT11_ENST00000539162.1_Silent_p.E109E	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	416					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGGTCTGCGAGAGCCCCCGCA	0.602																																																	0													50	58	55					1																	155851251		2203	4300	6503	SO:0001819	synonymous_variant	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1248G>A	1.37:g.155851251G>A			Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E416	ENST00000368324.4	37	c.1248	CCDS1122.1	1																																																																																			SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.602	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155851251	1	no_errors	ENST00000368324	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155851251	G	A	155851251	2	1	160	1	0	0	0	0	0	0	0	1	15497	933	33	1		1	SYT11	1	155851251	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4	155851251	93399370	157	28430	177	2								
IQGAP3	128239	genome.wustl.edu	37	chr1	156533585	156533585	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgtatagatcatgtatctGaggggccaatcccagccgga	11	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156533585G>A	ENST00000361170.2	-	6	479	c.469C>T	c.(469-471)Cag>Tag	p.Q157*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	157					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCATGTATCTGAGGGGCCAAT	0.542																																																	0													83	82	82					1																	156533585		2203	4300	6503	SO:0001587	stop_gained	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.469C>T	1.37:g.156533585G>A	ENSP00000354451:p.Gln157*		Q5T3H8	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.Q157*	ENST00000361170.2	37	c.469	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.723578	0.97792	.	.	ENSG00000183856	ENST00000361170	.	.	.	5.65	5.65	0.86999	.	0.065298	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-19.6612	18.3042	0.90175	0.0:0.0:1.0:0.0	.	.	.	.	X	157	.	ENSP00000354451:Q157X	Q	-	1	0	IQGAP3	154800209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.652000	0.74377	2.667000	0.90743	0.561000	0.74099	CAG	IQGAP3	-	superfamily_CH-domain		0.542	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	G	NM_178229		156533585	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	156533585	G	A	156533585	4	1	160	1	0	0	0	0	0	1	0	0	7836	1299	45	1	4558	1	IQGAP3	1	156533585	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	682334	156533585	92717036	158	28431										
APOA1BP	128240	genome.wustl.edu	37	chr1	156563345	156563345	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccagcatcgacattccctCaggtgctgggatccagaagg	12	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156563345C>G	ENST00000368235.3	+	5	705	c.662C>G	c.(661-663)tCa>tGa	p.S221*	APOA1BP_ENST00000368234.3_Silent_p.L202L|APOA1BP_ENST00000368233.3_Nonsense_Mutation_p.S221*|GPATCH4_ENST00000497287.1_5'Flank	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACATTCCCTCAGGTGCTGGG	0.557																																																	0													77	66	70					1																	156563345		2203	4300	6503	SO:0001587	stop_gained	128240			AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.662C>G	1.37:g.156563345C>G	ENSP00000357218:p.Ser221*			Nonsense_Mutation	SNP	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	p.S221*	ENST00000368235.3	37	c.662	CCDS1145.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.162021	0.97338	.	.	ENSG00000163382	ENST00000446584;ENST00000368235;ENST00000368233	.	.	.	5.55	5.55	0.83447	.	0.147551	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3331	16.9987	0.86376	0.0:1.0:0.0:0.0	.	.	.	.	X	239;221;221	.	ENSP00000357216:S221X	S	+	2	0	APOA1BP	154829969	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.808000	0.69165	2.594000	0.87642	0.655000	0.94253	TCA	APOA1BP	-	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom		0.557	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1BP	HGNC	protein_coding	OTTHUMT00000081044.1	C	NM_144772		156563345	1	no_errors	ENST00000368235	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	156563345	C	G	156563345	4	3	160	1	0	0	0	0	0	1	0	0	781	838	29	1	680	1	APOA1BP	1	156563345	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	29760	156563345	92687276	159	28432										
NES	10763	genome.wustl.edu	37	chr1	156640544	156640544	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtccccagaccacctgcctCctctaggtcctttctaggcc	7	18	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156640544C>G	ENST00000368223.3	-	4	3568	c.3436G>C	c.(3436-3438)Gag>Cag	p.E1146Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1146	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACCTGCCTCCTCTAGGTCC	0.607																																																	0													67	69	68					1																	156640544		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3436G>C	1.37:g.156640544C>G	ENSP00000357206:p.Glu1146Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E1146Q	ENST00000368223.3	37	c.3436	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602210	0.66445	.	.	ENSG00000132688	ENST00000368223	D	0.90069	-2.61	4.66	4.66	0.58398	.	0.000000	0.34002	N	0.004355	D	0.89584	0.6757	M	0.65498	2.005	0.09310	N	0.999997	D	0.76494	0.999	P	0.61275	0.886	D	0.83870	0.0273	10	0.87932	D	0	.	11.3823	0.49766	0.1813:0.8186:0.0:0.0	.	1146	P48681	NEST_HUMAN	Q	1146	ENSP00000357206:E1146Q	ENSP00000357206:E1146Q	E	-	1	0	NES	154907168	0.002000	0.14202	0.240000	0.24138	0.175000	0.22909	1.587000	0.36622	2.131000	0.65755	0.557000	0.71058	GAG	NES	-	NULL		0.607	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	C	NM_006617		156640544	-1	no_errors	ENST00000368223	ensembl	human	known	70_37	missense	SNP	0.415	G	G	156640544	C	G	156640544	3	3	160	1	0	0	0	0	1	0	0	0	10361	864	30	1	1433	1	NES	1	156640544	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	77199	156640544	92610077	160	28433										
NES	10763	genome.wustl.edu	37	chr1	156642887	156642887	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaggctggcacaggtgtctCaagggtagcaggcaagggtg	17	7	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156642887C>G	ENST00000368223.3	-	4	1225	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	365	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAGGTGTCTCAAGGGTAGCA	0.617																																																	0													47	60	55					1																	156642887		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1093G>C	1.37:g.156642887C>G	ENSP00000357206:p.Glu365Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E365Q	ENST00000368223.3	37	c.1093	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085260	0.20390	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86497	-2.13	4.87	-1.4	0.08968	.	0.526148	0.14259	N	0.330956	T	0.69097	0.3073	M	0.64997	1.995	0.09310	N	1	B	0.32781	0.384	B	0.26517	0.07	T	0.63470	-0.6630	10	0.87932	D	0	.	6.5345	0.22346	0.0:0.3847:0.4489:0.1663	.	365	P48681	NEST_HUMAN	Q	365	ENSP00000357206:E365Q	ENSP00000255024:E365Q	E	-	1	0	NES	154909511	0.004000	0.15560	0.092000	0.20876	0.947000	0.59692	0.232000	0.17891	0.040000	0.15660	0.313000	0.20887	GAG	NES	-	NULL		0.617	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	C	NM_006617		156642887	-1	no_errors	ENST00000368223	ensembl	human	known	70_37	missense	SNP	0.001	G	G	156642887	C	G	156642887	3	3	160	1	0	0	0	0	1	0	0	0	10361	835	29	1	3776	1	NES	1	156642887	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2343	156642887	92607734	161	28434										
INSRR	3645	genome.wustl.edu	37	chr1	156816359	156816359	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggactctgggctccttgatGagggctgtcctcctcagtgg	15	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156816359G>A	ENST00000368195.3	-	8	2158	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	588	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCCTTGATGAGGGCTGTCC	0.597																																																	0													128	92	105					1																	156816359		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1762C>T	1.37:g.156816359G>A	ENSP00000357178:p.His588Tyr		O60724|Q5VZS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H588Y	ENST00000368195.3	37	c.1762	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	4.837	0.155562	0.09236	.	.	ENSG00000027644	ENST00000368195	T	0.67865	-0.29	5.35	5.35	0.76521	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000121	T	0.16171	0.0389	.	.	.	0.28382	N	0.919487	P	0.47484	0.896	B	0.32393	0.145	T	0.35847	-0.9772	9	0.02654	T	1	.	11.4685	0.50254	0.0:0.0:0.8207:0.1792	.	588	P14616	INSRR_HUMAN	Y	588	ENSP00000357178:H588Y	ENSP00000357178:H588Y	H	-	1	0	INSRR	155082983	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.980000	0.40618	2.781000	0.95711	0.655000	0.94253	CAT	INSRR	-	superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt		0.597	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156816359	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	missense	SNP	0.858	A	A	156816359	G	A	156816359	3	1	160	1	0	0	0	0	1	0	0	0	7794	1290	45	1	2190	1	INSRR	1	156816359	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	173472	156816359	92434262	162	28435										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156915901	156915901	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgagccgctgcatctcagaGatgatgaggtctctcagctg	13	10	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:156915901G>C	ENST00000361409.2	-	28	3370	c.2628C>G	c.(2626-2628)atC>atG	p.I876M	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.I916M|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.I292M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	876	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCATCTCAGAGATGATGAGGT	0.612																																																	0													34	32	32					1																	156915901		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2628C>G	1.37:g.156915901G>C	ENSP00000354644:p.Ile876Met		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.I916M	ENST00000361409.2	37	c.2748	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245122	0.59103	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67698	-0.28;-0.28;-0.28	4.87	2.78	0.32641	Dbl homology (DH) domain (5);	0.343330	0.24859	N	0.035039	T	0.48003	0.1476	L	0.36672	1.1	0.28686	N	0.90484	P;P;B	0.37955	0.561;0.612;0.376	B;P;P	0.49683	0.278;0.619;0.484	T	0.41197	-0.9522	10	0.48119	T	0.1	-12.5559	6.2225	0.20689	0.181:0.1465:0.6725:0.0	.	292;876;916	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	916;876;292	ENSP00000357177:I916M;ENSP00000354644:I876M;ENSP00000313470:I292M	ENSP00000313470:I292M	I	-	3	3	ARHGEF11	155182525	0.640000	0.27243	1.000000	0.80357	0.988000	0.76386	0.541000	0.23207	1.121000	0.41925	0.650000	0.86243	ATC	ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.612	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156915901	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156915901	G	C	156915901	3	2	160	1	0	0	0	0	1	0	0	0	896	932	33	1	1992	1	ARHGEF11	1	156915901	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	99542	156915901	92334720	163	28436										
FCRL5	83416	genome.wustl.edu	37	chr1	157490282	157490282	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagcaaggcctgctatgctGagcaggcccccggcgactcc	13	16	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:157490282G>A	ENST00000361835.3	-	12	2728	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.L857L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	857					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCTATGCTGAGCAGGCCCC	0.632																																																	0													24	25	25					1																	157490282		2195	4290	6485	SO:0001819	synonymous_variant	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2571C>T	1.37:g.157490282G>A			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L857	ENST00000361835.3	37	c.2571	CCDS1165.1	1																																																																																			FCRL5	-	NULL		0.632	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	G	NM_031281		157490282	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	silent	SNP	0.080	A	A	157490282	G	A	157490282	2	1	160	1	0	0	0	0	0	0	0	1	5816	1277	45	1		1	FCRL5	1	157490282	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	574381	157490282	91760339	164	28437										
FCRL5	83416	genome.wustl.edu	37	chr1	157512838	157512838	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaagtgcgcagagaatcttCctgggtttcacagtgaagtg	12	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:157512838C>A	ENST00000361835.3	-	6	1091	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	FCRL5_ENST00000368191.3_Nonsense_Mutation_p.E227*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.E312*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.E312*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.E312*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	312	Ig-like C2-type 3.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGAATCTTCCTGGGTTTCA	0.512																																																	0													86	87	87					1																	157512838		2203	4300	6503	SO:0001587	stop_gained	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.934G>T	1.37:g.157512838C>A	ENSP00000354691:p.Glu312*		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E312*	ENST00000361835.3	37	c.934	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872444	0.72180	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	.	.	.	3.05	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	4.4401	0.11570	0.0:0.1727:0.0:0.8273	.	.	.	.	X	312;312;312;227;312	.	ENSP00000349434:E312X	E	-	1	0	FCRL5	155779462	0.001000	0.12720	0.001000	0.08648	0.034000	0.12701	1.082000	0.30803	0.388000	0.25054	0.313000	0.20887	GAA	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	C	NM_031281		157512838	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	157512838	C	A	157512838	4	1	160	1	0	0	0	0	0	1	0	0	5816	864	30	3	2047	3	FCRL5	1	157512838	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	22556	157512838	91737783	165	28438										
FCRL2	79368	genome.wustl.edu	37	chr1	157739743	157739743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagtaagaccctgtgtcttCactccacacggcagaaatct	7	14	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:157739743C>T	ENST00000361516.3	-	4	556	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.E170K|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	170	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGTGTCTTCACTCCACACG	0.527																																																	0													77	79	78					1																	157739743		2203	4300	6503	SO:0001583	missense	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.508G>A	1.37:g.157739743C>T	ENSP00000355157:p.Glu170Lys		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E170K	ENST00000361516.3	37	c.508	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136193	0.37728	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.03358	3.96;3.96	4.41	-0.0983	0.13629	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.753950	0.03962	N	0.290148	T	0.03305	0.0096	M	0.79258	2.445	0.09310	N	1	P;B;P	0.41313	0.745;0.224;0.538	P;B;B	0.46275	0.51;0.148;0.305	T	0.31833	-0.9929	10	0.49607	T	0.09	.	4.8199	0.13385	0.0:0.4202:0.3635:0.2163	.	170;170;170	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	K	170	ENSP00000355157:E170K;ENSP00000376100:E170K	ENSP00000355157:E170K	E	-	1	0	FCRL2	156006367	0.006000	0.16342	0.003000	0.11579	0.029000	0.11900	-0.261000	0.08694	-0.067000	0.12976	0.591000	0.81541	GAA	FCRL2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	C	NM_030764		157739743	-1	no_errors	ENST00000361516	ensembl	human	known	70_37	missense	SNP	0.025	T	T	157739743	C	T	157739743	3	4	160	1	0	0	0	0	1	0	0	0	5813	835	29	1	1054	1	FCRL2	1	157739743	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	226905	157739743	91510878	166	28439										
OR10Z1	128368	genome.wustl.edu	37	chr1	158576330	158576330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgccttgttcctctctctGtatctagtcactctgaccag	6	13	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:158576330G>A	ENST00000361284.1	+	1	102	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCTCTCTCTGTATCTAGTCA	0.507																																																	0													202	193	196					1																	158576330		2203	4300	6503	SO:0001819	synonymous_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.102G>A	1.37:g.158576330G>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L34	ENST00000361284.1	37	c.102	CCDS30901.1	1																																																																																			OR10Z1	-	prints_GPCR_Rhodpsn		0.507	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	G	NM_001004478		158576330	1	no_errors	ENST00000361284	ensembl	human	known	70_37	silent	SNP	0.308	A	A	158576330	G	A	158576330	2	1	160	1	0	0	0	0	0	0	0	1	10947	1364	48	4		4	OR10Z1	1	158576330	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	836587	158576330	90674291	167	28440										
OR6K6	128371	genome.wustl.edu	37	chr1	158724728	158724728	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaatggtgactgagttcctCttctctatgttcccgcatgc	8	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:158724728C>G	ENST00000368144.2	+	1	219	c.123C>G	c.(121-123)ctC>ctG	p.L41L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTGAGTTCCTCTTCTCTATGT	0.428																																																	0													203	188	193					1																	158724728		2203	4300	6503	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.123C>G	1.37:g.158724728C>G			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000368144.2	37	c.123	CCDS30904.1	1																																																																																			OR6K6	-	NULL		0.428	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	C	NM_001005184		158724728	1	no_errors	ENST00000368144	ensembl	human	known	70_37	silent	SNP	0.959	G	G	158724728	C	G	158724728	2	3	160	1	0	0	0	0	0	0	0	1	11228	900	32	1		1	OR6K6	1	158724728	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	148398	158724728	90525893	168	28441										
IFI16	3428	genome.wustl.edu	37	chr1	159002440	159002440	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagccatcttcggactcctCagatgccaccaacaactcca	6	16	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159002440C>T	ENST00000295809.7	+	7	1543	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	IFI16_ENST00000448393.2_Nonsense_Mutation_p.Q430*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Q430*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Q430*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Q378*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Q374*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Q430*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	430					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGGACTCCTCAGATGCCACC	0.512																																																	0													150	139	143					1																	159002440		2203	4300	6503	SO:0001587	stop_gained	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1288C>T	1.37:g.159002440C>T	ENSP00000295809:p.Gln430*		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.Q430*	ENST00000295809.7	37	c.1288		1	.	.	.	.	.	.	.	.	.	.	C	36	5.852697	0.97030	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.	.	.	2.15	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	4.6192	0.12442	0.0:0.8078:0.0:0.1922	.	.	.	.	X	430;430;430;430;378	.	ENSP00000295809:Q430X	Q	+	1	0	IFI16	157269064	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.051000	0.14141	0.447000	0.26695	0.462000	0.41574	CAG	IFI16	-	NULL		0.512	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	C	NM_005531		159002440	1	no_errors	ENST00000295809	ensembl	human	known	70_37	nonsense	SNP	0.002	T	T	159002440	C	T	159002440	4	4	160	1	0	0	0	0	0	1	0	0	7531	827	29	1	1310	1	IFI16	1	159002440	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	277712	159002440	90248181	169	28442										
FCRL6	343413	genome.wustl.edu	37	chr1	159779272	159779272	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatggtgcagctcctctgtGaggcacagaggggctcccct	13	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159779272G>A	ENST00000368106.3	+	5	686	c.685G>A	c.(685-687)Gag>Aag	p.E229K	FCRL6_ENST00000339348.5_Missense_Mutation_p.E229K|FCRL6_ENST00000321935.6_Missense_Mutation_p.E236K|FCRL6_ENST00000392235.3_Missense_Mutation_p.E134K	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	229	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCTCCTCTGTGAGGCACAGAG	0.607																																																	0													71	65	67					1																	159779272		2203	4300	6503	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.685G>A	1.37:g.159779272G>A	ENSP00000357086:p.Glu229Lys		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E229K	ENST00000368106.3	37	c.685	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017706	0.35606	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	3.94	3.03	0.35002	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.209785	0.24130	N	0.041264	T	0.06781	0.0173	M	0.75615	2.305	0.09310	N	1	P;P;D;D	0.89917	0.917;0.75;1.0;0.999	P;B;D;D	0.77004	0.583;0.301;0.989;0.96	T	0.12142	-1.0559	9	.	.	.	.	7.5144	0.27592	0.1196:0.0:0.8804:0.0	.	229;134;229;236	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	K	236;229;134;229	ENSP00000320625:E236K;ENSP00000340949:E229K;ENSP00000376068:E134K;ENSP00000357086:E229K	.	E	+	1	0	FCRL6	158045896	1.000000	0.71417	0.505000	0.27651	0.013000	0.08279	1.731000	0.38135	0.990000	0.38787	-0.225000	0.12378	GAG	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	G	NM_001004310		159779272	1	no_errors	ENST00000368106	ensembl	human	known	70_37	missense	SNP	0.175	A	A	159779272	G	A	159779272	3	1	160	1	0	0	0	0	1	0	0	0	5817	1291	45	1	703	1	FCRL6	1	159779272	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	776832	159779272	89471349	170	28443										
FCRL6	343413	genome.wustl.edu	37	chr1	159779317	159779317	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctgtattccttctaccttGatgagaagattgtggggaac	10	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159779317G>A	ENST00000368106.3	+	5	731	c.730G>A	c.(730-732)Gat>Aat	p.D244N	FCRL6_ENST00000339348.5_Missense_Mutation_p.D244N|FCRL6_ENST00000321935.6_Missense_Mutation_p.D251N|FCRL6_ENST00000392235.3_Missense_Mutation_p.D149N	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	244	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D244N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CTTCTACCTTGATGAGAAGAT	0.587																																																	1	Substitution - Missense(1)	ovary(1)											75	71	72					1																	159779317		2203	4300	6503	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.730G>A	1.37:g.159779317G>A	ENSP00000357086:p.Asp244Asn		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D244N	ENST00000368106.3	37	c.730	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	g	8.977	0.974361	0.18736	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	3.91	-6.2	0.02072	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.142910	0.06898	N	0.805548	T	0.02533	0.0077	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.32573	0.001;0.376;0.058;0.081	B;B;B;B	0.35607	0.02;0.206;0.047;0.046	T	0.38436	-0.9661	9	.	.	.	.	6.3187	0.21204	0.6714:0.0:0.1878:0.1408	.	244;149;244;251	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	N	251;244;149;244	ENSP00000320625:D251N;ENSP00000340949:D244N;ENSP00000376068:D149N;ENSP00000357086:D244N	.	D	+	1	0	FCRL6	158045941	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.737000	0.04877	-1.251000	0.02494	-0.958000	0.02645	GAT	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.587	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	G	NM_001004310		159779317	1	no_errors	ENST00000368106	ensembl	human	known	70_37	missense	SNP	0.000	A	A	159779317	G	A	159779317	3	1	160	1	0	0	0	0	1	0	0	0	5817	1290	45	1	748	1	FCRL6	1	159779317	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	45	159779317	89471304	171	28444										
SLAMF8	56833	genome.wustl.edu	37	chr1	159799975	159799975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acccagaccctccagctcaaGgtgtacggtgagtgtgtctg	12	12	2	2	rs146937039		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:159799975G>C	ENST00000289707.5	+	2	509	c.360G>C	c.(358-360)aaG>aaC	p.K120N	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	120					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCCAGCTCAAGGTGTACGGTG	0.627																																																	0								G	ASN/LYS	1,4405	2.1+/-5.4	0,1,2202	31	33	32		360	-1	1	1	dbSNP_134	32	0,8600		0,0,4300	no	missense	SLAMF8	NM_020125.2	94	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	120/286	159799975	1,13005	2203	4300	6503	SO:0001583	missense	56833			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.360G>C	1.37:g.159799975G>C	ENSP00000289707:p.Lys120Asn		Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like	p.K120N	ENST00000289707.5	37	c.360	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561526	0.27915	2.27E-4	0.0	ENSG00000158714	ENST00000289707	T	0.49139	0.79	4.55	-1.05	0.10036	.	0.376405	0.24393	N	0.038920	T	0.16685	0.0401	L	0.29908	0.895	0.80722	D	1	P	0.51791	0.948	P	0.47044	0.535	T	0.07770	-1.0755	10	0.16896	T	0.51	-6.1794	5.9816	0.19411	0.3584:0.1413:0.5003:0.0	.	120	Q9P0V8	SLAF8_HUMAN	N	120	ENSP00000289707:K120N	ENSP00000289707:K120N	K	+	3	2	SLAMF8	158066599	0.974000	0.33945	0.991000	0.47740	0.202000	0.24057	-0.197000	0.09518	-0.277000	0.09193	-1.786000	0.00637	AAG	SLAMF8	-	NULL		0.627	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1	G	NM_020125		159799975	1	no_errors	ENST00000289707	ensembl	human	known	70_37	missense	SNP	0.977	C	C	159799975	G	C	159799975	3	2	160	1	0	0	0	0	1	0	0	0	14400	991	35	4	366	4	SLAMF8	1	159799975	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	20658	159799975	89450646	172	28445										
KCNJ9	3765	genome.wustl.edu	37	chr1	160054516	160054516	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgacctcagcgtgggcttCgacacgggagacgaccgcct	13	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160054516C>G	ENST00000368088.3	+	2	938	c.696C>G	c.(694-696)ttC>ttG	p.F232L		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	232					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGTGGGCTTCGACACGGGAG	0.682																																																	0													12	11	12					1																	160054516		2199	4289	6488	SO:0001583	missense	3765			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.696C>G	1.37:g.160054516C>G	ENSP00000357067:p.Phe232Leu		Q5JW75	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.F232L	ENST00000368088.3	37	c.696	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282089	0.59867	.	.	ENSG00000162728	ENST00000368088	D	0.93659	-3.26	4.12	0.964	0.19655	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.062151	0.64402	D	0.000004	D	0.91516	0.7321	M	0.67700	2.07	0.40845	D	0.983709	P	0.50819	0.939	P	0.56474	0.799	D	0.89314	0.3635	10	0.51188	T	0.08	.	7.6104	0.28126	0.0:0.5399:0.0:0.4601	.	232	Q92806	IRK9_HUMAN	L	232	ENSP00000357067:F232L	ENSP00000357067:F232L	F	+	3	2	KCNJ9	158321140	0.801000	0.28930	1.000000	0.80357	0.949000	0.60115	-0.022000	0.12480	0.291000	0.22468	0.555000	0.69702	TTC	KCNJ9	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.682	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	C	NM_004983		160054516	1	no_errors	ENST00000368088	ensembl	human	known	70_37	missense	SNP	0.997	G	G	160054516	C	G	160054516	3	3	160	1	0	0	0	0	1	0	0	0	8077	883	31	1	698	1	KCNJ9	1	160054516	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	254541	160054516	89196105	173	28446										
VANGL2	57216	genome.wustl.edu	37	chr1	160393995	160393995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaagtaccttcggaccacCaagcagcagccctaccacac	7	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160393995C>T	ENST00000368061.2	+	7	1701	c.1227C>T	c.(1225-1227)acC>acT	p.T409T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	409					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGGACCACCAAGCAGCAGC	0.602																																																	0													136	114	121					1																	160393995		2203	4300	6503	SO:0001819	synonymous_variant	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1227C>T	1.37:g.160393995C>T			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.T409	ENST00000368061.2	37	c.1227	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus		0.602	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	C	NM_020335		160393995	1	no_errors	ENST00000368061	ensembl	human	known	70_37	silent	SNP	1.000	T	T	160393995	C	T	160393995	2	4	160	1	0	0	0	0	0	0	0	1	17151	581	21	4		4	VANGL2	1	160393995	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	339479	160393995	88856626	174	28447										
SLAMF1	6504	genome.wustl.edu	37	chr1	160604405	160604405	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccaccagtgtactcacctGaggggtctgtcctgcatccg	11	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160604405G>C	ENST00000302035.6	-	3	1047	c.698C>G	c.(697-699)tCa>tGa	p.S233*	SLAMF1_ENST00000235739.5_Nonsense_Mutation_p.S233*|SLAMF1_ENST00000355199.3_Nonsense_Mutation_p.S233*|SLAMF1_ENST00000538290.1_Nonsense_Mutation_p.S233*	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	233					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTACTCACCTGAGGGGTCTGT	0.552																																																	0													93	87	89					1																	160604405		2203	4300	6503	SO:0001587	stop_gained	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.698C>G	1.37:g.160604405G>C	ENSP00000306190:p.Ser233*		Q5W172|Q9HBE8	Nonsense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.S233*	ENST00000302035.6	37	c.698	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831049	0.71258	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	.	.	.	4.26	2.35	0.29111	.	2.980300	0.01208	N	0.007764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	13.2728	5.8418	0.18637	0.1045:0.1962:0.6994:0.0	.	.	.	.	X	233	.	ENSP00000235739:S233X	S	-	2	0	SLAMF1	158871029	0.006000	0.16342	0.779000	0.31741	0.019000	0.09904	0.426000	0.21363	0.727000	0.32360	-0.237000	0.12165	TCA	SLAMF1	-	NULL		0.552	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	G			160604405	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	nonsense	SNP	0.786	C	C	160604405	G	C	160604405	4	2	160	1	0	0	0	0	0	1	0	0	14397	1294	45	1	329	1	SLAMF1	1	160604405	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	210410	160604405	88646216	175	28448										
SLAMF1	6504	genome.wustl.edu	37	chr1	160616718	160616718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcacgaaggtcaaggagagGagccccttgggatccatcag	14	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:160616718G>A	ENST00000302035.6	-	1	367	c.18C>T	c.(16-18)ctC>ctT	p.L6L	SLAMF1_ENST00000235739.5_Silent_p.L6L|SLAMF1_ENST00000355199.3_Silent_p.L6L|SLAMF1_ENST00000538290.1_Silent_p.L6L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	6					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCAAGGAGAGGAGCCCCTTGG	0.557																																																	0													65	59	61					1																	160616718		2203	4300	6503	SO:0001819	synonymous_variant	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.18C>T	1.37:g.160616718G>A			Q5W172|Q9HBE8	Silent	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.L6	ENST00000302035.6	37	c.18	CCDS1207.1	1																																																																																			SLAMF1	-	pfam_Sig_lymph_act_molc_N		0.557	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	G			160616718	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	silent	SNP	0.000	A	A	160616718	G	A	160616718	2	1	160	1	0	0	0	0	0	0	0	1	14397	1161	41	1		1	SLAMF1	1	160616718	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	12313	160616718	88633903	176	28449										
DUSP27	92235	genome.wustl.edu	37	chr1	167097351	167097351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggacacctcctcctaccacGaggcaaatggcaactctgta	8	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:167097351G>C	ENST00000361200.2	+	6	3149	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E995Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.E995Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	995	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTCCTACCACGAGGCAAATGG	0.517																																																	0													84	79	81					1																	167097351		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2983G>C	1.37:g.167097351G>C	ENSP00000354483:p.Glu995Gln		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E995Q	ENST00000361200.2	37	c.2983	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	1.512	-0.549116	0.04024	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03386	3.95;3.95;3.95	5.42	3.38	0.38709	.	0.265830	0.26915	N	0.021851	T	0.01661	0.0053	L	0.38838	1.175	0.09310	N	1	B	0.21753	0.06	B	0.13407	0.009	T	0.41233	-0.9520	10	0.44086	T	0.13	-25.4021	17.7927	0.88561	0.0:0.3227:0.6773:0.0	.	995	Q5VZP5	DUS27_HUMAN	Q	995	ENSP00000354483:E995Q;ENSP00000271385:E995Q;ENSP00000404874:E995Q	ENSP00000271385:E995Q	E	+	1	0	DUSP27	165363975	0.985000	0.35326	0.220000	0.23810	0.251000	0.25915	2.201000	0.42734	1.243000	0.43853	0.643000	0.83706	GAG	DUSP27	-	NULL		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167097351	1	no_errors	ENST00000271385	ensembl	human	known	70_37	missense	SNP	0.005	C	C	167097351	G	C	167097351	3	2	160	1	0	0	0	0	1	0	0	0	4834	1059	37	1	3001	1	DUSP27	1	167097351	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6480633	167097351	82153270	177	28450										
MYOC	4653	genome.wustl.edu	37	chr1	171605066	171605066	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtacagcttggaggcttttCacatcttggagagcttgatg	12	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:171605066C>T	ENST00000037502.6	-	3	1585	c.1514G>A	c.(1513-1515)tGa>tAa	p.*505*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	0					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGCTTTTCACATCTTGGA	0.552																																																	0													66	62	63					1																	171605066		2203	4300	6503	SO:0001819	synonymous_variant	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1514G>A	1.37:g.171605066C>T			B2RD84|O00620|Q7Z6Q9	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.*505	ENST00000037502.6	37	c.1514	CCDS1297.1	1																																																																																			MYOC	-	NULL		0.552	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171605066	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	silent	SNP	0.674	T	T	171605066	C	T	171605066	2	4	160	1	0	0	0	0	0	0	0	1	10109	837	29	1		1	MYOC	1	171605066	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4507715	171605066	77645555	178	28451										
MYOC	4653	genome.wustl.edu	37	chr1	171621560	171621560	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgactgacatggcctggctCtgctctgggcagctggattc	13	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:171621560C>G	ENST00000037502.6	-	1	263	c.192G>C	c.(190-192)caG>caC	p.Q64H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	64					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGGCTCTGCTCTGGGC	0.582																																																	0													121	94	103					1																	171621560		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.192G>C	1.37:g.171621560C>G	ENSP00000037502:p.Gln64His		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.Q64H	ENST00000037502.6	37	c.192	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006070	0.07866	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000537133	T	0.59502	0.26	5.31	1.07	0.20283	.	1.214530	0.05508	N	0.559745	T	0.27489	0.0675	L	0.44542	1.39	0.09310	N	1	P;P	0.36837	0.511;0.571	B;B	0.34242	0.135;0.178	T	0.25152	-1.0140	10	0.45353	T	0.12	.	7.1497	0.25604	0.1253:0.6533:0.0:0.2214	.	64;64	B4DV44;Q99972	.;MYOC_HUMAN	H	64	ENSP00000037502:Q64H	ENSP00000037502:Q64H	Q	-	3	2	MYOC	169888183	0.001000	0.12720	0.791000	0.31998	0.111000	0.19643	-0.282000	0.08445	0.067000	0.16545	-1.731000	0.00696	CAG	MYOC	-	NULL		0.582	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171621560	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	missense	SNP	0.035	G	G	171621560	C	G	171621560	3	3	160	1	0	0	0	0	1	0	0	0	10109	912	32	1	1334	1	MYOC	1	171621560	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	16494	171621560	77629061	179	28452										
ZBTB37	84614	genome.wustl.edu	37	chr1	173839612	173839612	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctactgtttttgaacagctCctttctttctgttacacagg	6	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:173839612C>G	ENST00000367701.5	+	2	440	c.249C>G	c.(247-249)ctC>ctG	p.L83L	ZBTB37_ENST00000367704.1_Silent_p.L83L|ZBTB37_ENST00000432989.1_Silent_p.L83L|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367702.1_Silent_p.L83L|ZBTB37_ENST00000427304.1_Silent_p.L83L			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TTGAACAGCTCCTTTCTTTCT	0.458																																																	0													84	85	85					1																	173839612		2203	4300	6503	SO:0001819	synonymous_variant	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.249C>G	1.37:g.173839612C>G			Q5TC80|Q96M87|Q9BQ88	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L83	ENST00000367701.5	37	c.249	CCDS44278.1	1																																																																																			ZBTB37	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.458	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	C	NM_032522		173839612	1	no_errors	ENST00000367701	ensembl	human	known	70_37	silent	SNP	1.000	G	G	173839612	C	G	173839612	2	3	160	1	0	0	0	0	0	0	0	1	17568	842	30	1		1	ZBTB37	1	173839612	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2218052	173839612	75411009	180	28453										
RC3H1	149041	genome.wustl.edu	37	chr1	173961967	173961967	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtattgatagtggtctggtCaaatgggcaagccttgcggt	14	6	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:173961967C>G	ENST00000367696.2	-	2	508	c.157G>C	c.(157-159)Gac>Cac	p.D53H	RC3H1_ENST00000367694.2_Missense_Mutation_p.D53H|RC3H1_ENST00000258349.4_Missense_Mutation_p.D53H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	53					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GTGGTCTGGTCAAATGGGCAA	0.483																																																	0													144	123	130					1																	173961967		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.157G>C	1.37:g.173961967C>G	ENSP00000356669:p.Asp53His		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D53H	ENST00000367696.2	37	c.157	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183577	0.78677	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.85629	-2.01;-2.01;-2.01	5.68	4.77	0.60923	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	D	0.95577	0.8643	10	0.87932	D	0	-15.5093	16.7786	0.85558	0.0:0.8711:0.1289:0.0	.	53;53;53;53	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	53	ENSP00000356669:D53H;ENSP00000258349:D53H;ENSP00000356667:D53H	ENSP00000258349:D53H	D	-	1	0	RC3H1	172228590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.391000	0.79828	1.403000	0.46800	0.655000	0.94253	GAC	RC3H1	-	smart_Znf_RING,pfscan_Znf_RING		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	C	NM_172071		173961967	-1	no_errors	ENST00000258349	ensembl	human	known	70_37	missense	SNP	1.000	G	G	173961967	C	G	173961967	3	3	160	1	0	0	0	0	1	0	0	0	13196	826	29	1	3320	1	RC3H1	1	173961967	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	122355	173961967	75288654	181	28454										
RFWD2	64326	genome.wustl.edu	37	chr1	175996801	175996801	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgcttgccactgagttgtCtagattggtagaccacagct	10	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:175996801C>G	ENST00000367669.3	-	15	2150	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	RFWD2_ENST00000308769.8_Missense_Mutation_p.D522H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	546					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTGAGTTGTCTAGATTGGTA	0.408																																					Ovarian(134;1413 1765 5706 35534 51541)												0													84	71	76					1																	175996801		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1636G>C	1.37:g.175996801C>G	ENSP00000356641:p.Asp546His		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D546H	ENST00000367669.3	37	c.1636	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708214	0.89018	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.70749	-0.51;-0.51;-0.51	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	L	0.39633	1.23	0.80722	D	1	P;D;D;D;D	0.89917	0.534;0.99;1.0;0.999;0.999	P;D;D;D;D	0.80764	0.569;0.969;0.98;0.994;0.99	T	0.80596	-0.1312	10	0.62326	D	0.03	-18.6517	19.4868	0.95032	0.0:1.0:0.0:0.0	.	321;306;522;546;546	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	H	321;546;381;522	ENSP00000356641:D546H;ENSP00000356638:D381H;ENSP00000310943:D522H	ENSP00000310943:D522H	D	-	1	0	RFWD2	174263424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.660000	0.68018	2.693000	0.91896	0.650000	0.86243	GAC	RFWD2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	C	NM_022457		175996801	-1	no_errors	ENST00000367669	ensembl	human	known	70_37	missense	SNP	1.000	G	G	175996801	C	G	175996801	3	3	160	1	0	0	0	0	1	0	0	0	13290	913	32	1	583	1	RFWD2	1	175996801	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2034834	175996801	73253820	182	28455										
NPHS2	7827	genome.wustl.edu	37	chr1	179526215	179526215	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaatttcagtgagggatcGatgtgctaggagacgcttca	13	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179526215G>C	ENST00000367615.4	-	5	753	c.685C>G	c.(685-687)Cga>Gga	p.R229G	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	229			R -> Q (appears to enhance susceptibility to NPHS2 in association with a second mutant allele; disease-associated 3' mutations exert a dominant-negative effect on this mutation but behave as recessive alleles when associated with the wild-type protein). {ECO:0000269|PubMed:12464671, ECO:0000269|PubMed:21722858, ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:24509478}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.R229*(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GTGAGGGATCGATGTGCTAGG	0.413																																																	1	Substitution - Nonsense(1)	large_intestine(1)											111	92	98					1																	179526215		2203	4300	6503	SO:0001583	missense	7827			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.685C>G	1.37:g.179526215G>C	ENSP00000356587:p.Arg229Gly		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.R229G	ENST00000367615.4	37	c.685	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542593	0.85917	.	.	ENSG00000116218	ENST00000367615	D	0.95001	-3.58	5.93	5.93	0.95920	.	0.070347	0.64402	D	0.000015	D	0.95862	0.8653	L	0.46741	1.465	0.80722	D	1	D	0.61697	0.99	P	0.62382	0.901	D	0.95648	0.8704	10	0.59425	D	0.04	-10.5416	18.9177	0.92512	0.0:0.0:1.0:0.0	.	229	Q9NP85	PODO_HUMAN	G	229	ENSP00000356587:R229G	ENSP00000356587:R229G	R	-	1	2	NPHS2	177792838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.689000	0.61723	2.826000	0.97356	0.655000	0.94253	CGA	NPHS2	-	pfam_Band_7,smart_Band_7,prints_Stomatin		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	G			179526215	-1	no_errors	ENST00000367615	ensembl	human	known	70_37	missense	SNP	1.000	C	C	179526215	G	C	179526215	3	2	160	1	0	0	0	0	1	0	0	0	10607	1066	37	1	482	1	NPHS2	1	179526215	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3529414	179526215	69724406	183	28456										
TDRD5	163589	genome.wustl.edu	37	chr1	179587787	179587787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attggacctggaggaactatCagttcagaactaaaacataa	8	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179587787C>G	ENST00000367614.1	+	5	1244	c.885C>G	c.(883-885)atC>atG	p.I295M	TDRD5_ENST00000444136.1_Missense_Mutation_p.I295M|TDRD5_ENST00000294848.8_Missense_Mutation_p.I295M	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	295	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGGAACTATCAGTTCAGAAC	0.313																																																	0													62	67	65					1																	179587787		2203	4298	6501	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.885C>G	1.37:g.179587787C>G	ENSP00000356586:p.Ile295Met		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.I295M	ENST00000367614.1	37	c.885	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921386	0.52653	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.19250	2.16;2.16;2.31	4.77	-1.96	0.07525	.	0.600804	0.16671	N	0.204355	T	0.25494	0.0620	L	0.44542	1.39	0.21064	N	0.999795	D;D	0.58970	0.984;0.97	P;P	0.55455	0.736;0.776	T	0.13548	-1.0505	10	0.59425	D	0.04	-6.1074	8.9845	0.35986	0.0:0.4521:0.0:0.5479	.	295;295	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	M	295	ENSP00000356586:I295M;ENSP00000294848:I295M;ENSP00000406052:I295M	ENSP00000294848:I295M	I	+	3	3	TDRD5	177854410	0.015000	0.18098	0.303000	0.25071	0.964000	0.63967	-0.793000	0.04589	-0.658000	0.05366	0.563000	0.77884	ATC	TDRD5	-	NULL		0.313	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	C	NM_173533		179587787	1	no_errors	ENST00000444136	ensembl	human	known	70_37	missense	SNP	0.526	G	G	179587787	C	G	179587787	3	3	160	1	0	0	0	0	1	0	0	0	15763	816	29	1	899	1	TDRD5	1	179587787	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	61572	179587787	69662834	184	28457										
CEP350	9857	genome.wustl.edu	37	chr1	179993679	179993679	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcgtctcgttcatctacttCttctaaaggaaagaaaggaa	7	8	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:179993679C>G	ENST00000367607.3	+	14	3930	c.3512C>G	c.(3511-3513)tCt>tGt	p.S1171C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1171	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCATCTACTTCTTCTAAAGGA	0.393																																																	0													66	57	60					1																	179993679		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3512C>G	1.37:g.179993679C>G	ENSP00000356579:p.Ser1171Cys		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S1171C	ENST00000367607.3	37	c.3512	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364411	0.82463	.	.	ENSG00000135837	ENST00000367607	T	0.62232	0.04	5.61	5.61	0.85477	.	0.156481	0.29972	N	0.010733	T	0.63022	0.2476	L	0.29908	0.895	0.35941	D	0.833201	D;D	0.61697	0.983;0.99	P;P	0.54499	0.671;0.754	T	0.66980	-0.5786	9	.	.	.	.	16.3698	0.83350	0.0:1.0:0.0:0.0	.	1171;1171	E7EU22;Q5VT06	.;CE350_HUMAN	C	1171	ENSP00000356579:S1171C	.	S	+	2	0	CEP350	178260302	0.999000	0.42202	0.972000	0.41901	0.946000	0.59487	4.832000	0.62759	2.635000	0.89317	0.563000	0.77884	TCT	CEP350	-	NULL		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	C	NM_014810		179993679	1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.998	G	G	179993679	C	G	179993679	3	3	160	1	0	0	0	0	1	0	0	0	3259	913	32	1	3562	1	CEP350	1	179993679	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	405892	179993679	69256942	185	28458										
XPR1	9213	genome.wustl.edu	37	chr1	180843068	180843068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctactgtctttgccccacttGaggttttccggtaagcaaac	8	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:180843068G>A	ENST00000367590.4	+	13	1996	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	XPR1_ENST00000367589.3_Missense_Mutation_p.E535K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	600	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCCCACTTGAGGTTTTCCG	0.363																																																	0													95	83	87					1																	180843068		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1798G>A	1.37:g.180843068G>A	ENSP00000356562:p.Glu600Lys		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.E600K	ENST00000367590.4	37	c.1798	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.701665	0.96812	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	D;D	0.84442	-1.85;-1.85	5.43	5.43	0.79202	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95207	0.8446	H	0.96301	3.8	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.96505	0.9374	10	0.87932	D	0	-10.2424	18.8267	0.92122	0.0:0.0:1.0:0.0	.	535;600	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	600;535	ENSP00000356562:E600K;ENSP00000356561:E535K	ENSP00000356561:E535K	E	+	1	0	XPR1	179109691	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.715000	0.98748	2.558000	0.86282	0.650000	0.86243	GAG	XPR1	-	pfam_EXS_C		0.363	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	G	NM_004736		180843068	1	no_errors	ENST00000367590	ensembl	human	known	70_37	missense	SNP	1.000	A	A	180843068	G	A	180843068	3	1	160	1	0	0	0	0	1	0	0	0	17482	1291	45	1	1848	1	XPR1	1	180843068	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	849389	180843068	68407553	186	28459										
LAMC2	3918	genome.wustl.edu	37	chr1	183177098	183177098	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtaatggattccgctgcctCaactgcaatgacaacactga	9	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:183177098C>G	ENST00000264144.4	+	2	227	c.162C>G	c.(160-162)ctC>ctG	p.L54L	LAMC2_ENST00000493293.1_Silent_p.L54L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	54	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L54L(1)|p.L54>?(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCCGCTGCCTCAACTGCAATG	0.488																																																	2	Complex(1)|Substitution - coding silent(1)	kidney(2)											250	240	244					1																	183177098		2203	4300	6503	SO:0001819	synonymous_variant	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.162C>G	1.37:g.183177098C>G			Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.L54	ENST00000264144.4	37	c.162	CCDS1352.1	1																																																																																			LAMC2	-	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin		0.488	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	C	NM_005562		183177098	1	no_errors	ENST00000264144	ensembl	human	known	70_37	silent	SNP	1.000	G	G	183177098	C	G	183177098	2	3	160	1	0	0	0	0	0	0	0	1	8635	813	29	1		1	LAMC2	1	183177098	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2334030	183177098	66073523	187	28460										
RGS18	64407	genome.wustl.edu	37	chr1	192127819	192127819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaatatgtgtgaatcaaaaGaaaaaacttttttcaagtta	5	3	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:192127819G>C	ENST00000367460.3	+	1	233	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	18					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATCAAAAGAAAAAACTTT	0.294																																																	0													39	43	41					1																	192127819		2201	4281	6482	SO:0001583	missense	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.52G>C	1.37:g.192127819G>C	ENSP00000356430:p.Glu18Gln		B2RD23	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E18Q	ENST00000367460.3	37	c.52	CCDS1374.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173839	0.57692	.	.	ENSG00000150681	ENST00000367460	T	0.54479	0.57	6.06	5.16	0.70880	.	0.253806	0.45126	D	0.000385	T	0.50514	0.1620	L	0.60455	1.87	0.36813	D	0.885974	P	0.36282	0.546	B	0.37943	0.261	T	0.59348	-0.7471	10	0.42905	T	0.14	.	12.3769	0.55285	0.0777:0.0:0.9223:0.0	.	18	Q9NS28	RGS18_HUMAN	Q	18	ENSP00000356430:E18Q	ENSP00000356430:E18Q	E	+	1	0	RGS18	190394442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.605000	0.67634	1.582000	0.49881	0.650000	0.86243	GAA	RGS18	-	NULL		0.294	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS18	HGNC	protein_coding	OTTHUMT00000086382.1	G	NM_130782		192127819	1	no_errors	ENST00000367460	ensembl	human	known	70_37	missense	SNP	1.000	C	C	192127819	G	C	192127819	3	2	160	1	0	0	0	0	1	0	0	0	13330	943	33	1	54	1	RGS18	1	192127819	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8950721	192127819	57122802	188	28461										
CFHR5	81494	genome.wustl.edu	37	chr1	196964876	196964876	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatcatgtggtccacctcctCaactctccaatggtgaagtt	8	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:196964876C>G	ENST00000256785.4	+	5	746	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	CFHR5_ENST00000367414.5_Missense_Mutation_p.Q237E			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	213	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCCACCTCCTCAACTCTCCAA	0.333																																																	0													103	104	104					1																	196964876		2203	4299	6502	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.637C>G	1.37:g.196964876C>G	ENSP00000256785:p.Gln213Glu		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q237E	ENST00000256785.4	37	c.709	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.374838	0.01214	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.63913	-0.07;-0.07	3.39	-3.77	0.04346	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.27866	0.0686	N	0.05306	-0.075	0.09310	N	1	B	0.15473	0.013	B	0.19666	0.026	T	0.33650	-0.9860	9	0.02654	T	1	.	3.2266	0.06734	0.1607:0.2445:0.4751:0.1197	.	213	Q9BXR6	FHR5_HUMAN	E	237;213	ENSP00000356384:Q237E;ENSP00000256785:Q213E	ENSP00000256785:Q213E	Q	+	1	0	CFHR5	195231499	0.000000	0.05858	0.017000	0.16124	0.035000	0.12851	-0.433000	0.06948	-0.252000	0.09528	0.446000	0.29264	CAA	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	C	NM_030787		196964876	1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.001	G	G	196964876	C	G	196964876	3	3	160	1	0	0	0	0	1	0	0	0	3293	827	29	1	655	1	CFHR5	1	196964876	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4837057	196964876	52285745	189	28462										
DDX59	83479	genome.wustl.edu	37	chr1	200635689	200635689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccacctgggctggggaaaggGcatgattcgctgatgtgcct	15	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:200635689G>A	ENST00000331314.6	-	2	393	c.180C>T	c.(178-180)tgC>tgT	p.C60C	RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000367348.3_Silent_p.C60C|DDX59_ENST00000447706.2_Silent_p.C60C	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	60						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGGGGAAAGGGCATGATTCGC	0.532																																																	0													153	135	141					1																	200635689		2203	4300	6503	SO:0001819	synonymous_variant	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.180C>T	1.37:g.200635689G>A			Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.C60	ENST00000331314.6	37	c.180	CCDS30964.1	1																																																																																			DDX59	-	NULL		0.532	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086883.2	G	NM_001031725.4		200635689	-1	no_errors	ENST00000331314	ensembl	human	known	70_37	silent	SNP	0.003	A	A	200635689	G	A	200635689	2	1	160	1	0	0	0	0	0	0	0	1	4381	1195	42	4		4	DDX59	1	200635689	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3670813	200635689	48614932	190	28463										
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200818904	200818904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtctgtggatagccttcctCggttaaggaggttttcacca	12	9	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:200818904C>T	ENST00000236925.4	+	12	3089	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R987W|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R1003W			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1014					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TAGCCTTCCTCGGTTAAGGAG	0.403																																																	0													111	116	114					1																	200818904		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3040C>T	1.37:g.200818904C>T	ENSP00000236925:p.Arg1014Trp		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R1014W	ENST00000236925.4	37	c.3040		1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410504	0.62399	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.18016	2.26;2.24;2.26	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.989;0.999	T	0.32052	-0.9921	10	0.72032	D	0.01	-22.5801	16.2156	0.82211	0.1409:0.8591:0.0:0.0	.	987;1014;1003	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	W	1003;987;1014	ENSP00000351684:R1003W;ENSP00000416800:R987W;ENSP00000236925:R1014W	ENSP00000236925:R1014W	R	+	1	2	CAMSAP1L1	199085527	0.992000	0.36948	0.962000	0.40283	0.959000	0.62525	2.623000	0.46435	1.469000	0.48083	0.655000	0.94253	CGG	CAMSAP2	-	NULL		0.403	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200818904	1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	0.999	T	T	200818904	C	T	200818904	3	4	160	1	0	0	0	0	1	0	0	0	2617	875	31	1	3049	1	CAMSAP1L1	1	200818904	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	183215	200818904	48431717	191	28464										
IGFN1	91156	genome.wustl.edu	37	chr1	201180634	201180634	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggtttagggggttctgaaGaaatggggtcagtgaataag	16	2	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201180634G>A	ENST00000335211.4	+	12	6743	c.6613G>A	c.(6613-6615)Gaa>Aaa	p.E2205K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGTTCTGAAGAAATGGGGTC	0.507																																																	0													27	23	25					1																	201180634		692	1590	2282	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.6613G>A	1.37:g.201180634G>A	ENSP00000334714:p.Glu2205Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E2205K	ENST00000335211.4	37	c.6613	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	7.845	0.722796	0.15439	.	.	ENSG00000163395	ENST00000335211	D	0.88354	-2.37	2.63	-1.27	0.09347	.	.	.	.	.	T	0.69079	0.3071	N	0.08118	0	0.09310	N	0.999998	.	.	.	.	.	.	T	0.57039	-0.7879	6	.	.	.	.	0.3257	0.00310	0.3163:0.1929:0.2953:0.1955	.	.	.	.	K	2205	ENSP00000334714:E2205K	.	E	+	1	0	IGFN1	199447257	0.998000	0.40836	0.000000	0.03702	0.003000	0.03518	0.099000	0.15210	-0.136000	0.11475	-3.189000	0.00055	GAA	IGFN1	-	NULL		0.507	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201180634	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A	A	201180634	G	A	201180634	3	1	160	1	0	0	0	0	1	0	0	0	7610	943	33	1	6655	1	IGFN1	1	201180634	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	361730	201180634	48069987	192	28465										
NAV1	89796	genome.wustl.edu	37	chr1	201779862	201779862	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagggcatcgtcagcaccttCaacatgcaccagcagtcttg	10	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201779862C>T	ENST00000367296.4	+	24	5193	c.4773C>T	c.(4771-4773)ttC>ttT	p.F1591F	IPO9-AS1_ENST00000413035.1_RNA|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Silent_p.F1197F|NAV1_ENST00000295624.6_Silent_p.F1588F|NAV1_ENST00000367302.1_Silent_p.F1544F|NAV1_ENST00000367300.3_Silent_p.F1531F|NAV1_ENST00000367297.4_Silent_p.F1583F	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1591					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCACCTTCAACATGCACC	0.637																																																	0													73	60	65					1																	201779862		2203	4300	6503	SO:0001819	synonymous_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4773C>T	1.37:g.201779862C>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	smart_AAA+_ATPase	p.F1591	ENST00000367296.4	37	c.4773	CCDS1414.2	1																																																																																			NAV1	-	smart_AAA+_ATPase		0.637	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	C	NM_020443		201779862	1	no_errors	ENST00000367296	ensembl	human	known	70_37	silent	SNP	1.000	T	T	201779862	C	T	201779862	2	4	160	1	0	0	0	0	0	0	0	1	10206	825	29	1		1	NAV1	1	201779862	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	599228	201779862	47470759	193	28466										
RNPEP	6051	genome.wustl.edu	37	chr1	201973512	201973512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaacttggagacacataccCaagtatctcaaatgcccgga	7	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201973512C>G	ENST00000295640.4	+	10	1725	c.1682C>G	c.(1681-1683)cCa>cGa	p.P561R	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.P522R|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	561					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GACACATACCCAAGTATCTCA	0.478																																					GBM(19;39 479 7473 13131 19462)												0													79	85	83					1																	201973512		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1682C>G	1.37:g.201973512C>G	ENSP00000295640:p.Pro561Arg		Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.P561R	ENST00000295640.4	37	c.1682	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545752	0.45280	.	.	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.05382	4.07;3.45	5.5	3.57	0.40892	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.128140	0.53938	D	0.000057	T	0.15435	0.0372	L	0.57536	1.79	0.44241	D	0.997087	P;P	0.50943	0.94;0.94	P;P	0.62885	0.908;0.857	T	0.08106	-1.0738	10	0.19147	T	0.46	-12.1994	10.3562	0.43964	0.0:0.7897:0.1346:0.0757	.	569;561	Q7RU04;Q9H4A4	.;AMPB_HUMAN	R	561;522	ENSP00000295640:P561R;ENSP00000356255:P522R	ENSP00000295640:P561R	P	+	2	0	RNPEP	200240135	0.990000	0.36364	0.395000	0.26283	0.074000	0.17049	3.523000	0.53488	1.263000	0.44181	0.655000	0.94253	CCA	RNPEP	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold		0.478	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	C	NM_020216		201973512	1	no_errors	ENST00000295640	ensembl	human	known	70_37	missense	SNP	0.956	G	G	201973512	C	G	201973512	3	3	160	1	0	0	0	0	1	0	0	0	13539	594	21	4	1720	4	RNPEP	1	201973512	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	193650	201973512	47277109	194	28467										
ELF3	1999	genome.wustl.edu	37	chr1	201983060	201983060	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatcggcatgaaggcgtcttCaagttcctgcgctccgaggc	12	12	2	1	rs202089261		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:201983060C>T	ENST00000359651.3	+	7	4101	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ELF3_ENST00000367284.5_Silent_p.F303F|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Silent_p.F303F					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGGCGTCTTCAAGTTCCTGC	0.582																																																	0								C	,	0,4406		0,0,2203	95	77	83		909,909	4.2	1	1		83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	ELF3	NM_001114309.1,NM_004433.4	,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,	303/372,303/372	201983060	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.909C>T	1.37:g.201983060C>T				Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.F303	ENST00000359651.3	37	c.909	CCDS1419.1	1																																																																																			ELF3	-	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201983060	1	no_errors	ENST00000359651	ensembl	human	known	70_37	silent	SNP	1.000	T	T	201983060	C	T	201983060	2	4	160	1	0	0	0	0	0	0	0	1	5067	825	29	1		1	ELF3	1	201983060	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9548	201983060	47267561	195	28468										
LAX1	54900	genome.wustl.edu	37	chr1	203743702	203743702	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcagatgaaacatagagaaGagatgtcaaatgaggactcc	11	6	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:203743702G>C	ENST00000442561.2	+	5	1480	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.E348Q	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	364					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACATAGAGAAGAGATGTCAAA	0.483																																																	0													108	110	109					1																	203743702		2203	4300	6503	SO:0001583	missense	54900			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.1090G>C	1.37:g.203743702G>C	ENSP00000406970:p.Glu364Gln		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	NULL	p.E364Q	ENST00000442561.2	37	c.1090	CCDS1441.2	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456483	0.43634	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	4.02	1.11	0.20524	.	0.580111	0.16526	N	0.210566	T	0.45316	0.1336	L	0.59436	1.845	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.52957	0.714;0.624	T	0.30416	-0.9979	9	0.66056	D	0.02	-5.3831	5.9654	0.19322	0.3332:0.0:0.6668:0.0	.	348;364	B7Z744;Q8IWV1	.;LAX1_HUMAN	Q	364;348	.	ENSP00000356186:E348Q	E	+	1	0	LAX1	202010325	1.000000	0.71417	0.007000	0.13788	0.018000	0.09664	1.761000	0.38440	0.262000	0.21774	-0.150000	0.13652	GAG	LAX1	-	NULL		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3	G	NM_017773		203743702	1	no_errors	ENST00000442561	ensembl	human	known	70_37	missense	SNP	0.021	C	C	203743702	G	C	203743702	3	2	160	1	0	0	0	0	1	0	0	0	8668	943	33	1	1153	1	LAX1	1	203743702	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1760642	203743702	45506919	196	28469										
SOX13	9580	genome.wustl.edu	37	chr1	204086775	204086775	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccccccaagccaccaacctCtgcctgtcacccctgactcc	4	23	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:204086775C>G	ENST00000367204.1	+	7	824	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	239	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCACCAACCTCTGCCTGTCAC	0.582																																																	0													51	59	57					1																	204086775		2082	4213	6295	SO:0001583	missense	9580				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.715C>G	1.37:g.204086775C>G	ENSP00000356172:p.Leu239Val		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L239V	ENST00000367204.1	37	c.715	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277533	0.40294	.	.	ENSG00000143842	ENST00000367204	D	0.98701	-5.08	5.06	2.92	0.33932	.	0.156015	0.41938	D	0.000787	D	0.97213	0.9089	M	0.66439	2.03	0.25838	N	0.984089	B;B;B;P	0.51351	0.376;0.376;0.376;0.944	B;B;B;P	0.45276	0.061;0.061;0.097;0.475	D	0.93450	0.6801	10	0.46703	T	0.11	.	8.1166	0.30946	0.1684:0.7334:0.0:0.0983	.	106;106;239;221	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	V	239	ENSP00000356172:L239V	ENSP00000356172:L239V	L	+	1	2	SOX13	202353398	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	2.004000	0.40854	1.080000	0.41073	0.467000	0.42956	CTG	SOX13	-	NULL		0.582	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	C	NM_005686		204086775	1	no_errors	ENST00000367204	ensembl	human	known	70_37	missense	SNP	1.000	G	G	204086775	C	G	204086775	3	3	160	1	0	0	0	0	1	0	0	0	14974	912	32	1	737	1	SOX13	1	204086775	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	343073	204086775	45163846	197	28470										
C1orf116	79098	genome.wustl.edu	37	chr1	207200937	207200937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgctggccacagctccctctCgggcatcacccgaaacaagg	10	17	2	0	rs375834919	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:207200937C>T	ENST00000359470.5	-	2	256	c.7G>A	c.(7-9)Gag>Aag	p.E3K	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	3						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGCTCCCTCTCGGGCATCACC	0.612													C|||	2	0.000399361	0.0015	0	5008	,	,		18459	0		0	False		,,,				2504	0																0								C	LYS/GLU,	0,4406		0,0,2203	57	53	55		7,	3.6	1	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	C1orf116	NM_023938.5,NM_001083924.1	56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,	3/602,	207200937	1,13005	2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.7G>A	1.37:g.207200937C>T	ENSP00000352447:p.Glu3Lys		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.E3K	ENST00000359470.5	37	c.7	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816161	0.50527	0.0	1.16E-4	ENSG00000182795	ENST00000359470	T	0.08546	3.08	5.48	3.57	0.40892	.	0.363795	0.31031	N	0.008383	T	0.03739	0.0106	N	0.16656	0.425	0.80722	D	1	P	0.37500	0.597	B	0.26094	0.066	T	0.54761	-0.8245	10	0.19590	T	0.45	-15.7005	7.7428	0.28851	0.0:0.7093:0.136:0.1547	.	3	Q9BW04	SARG_HUMAN	K	3	ENSP00000352447:E3K	ENSP00000352447:E3K	E	-	1	0	C1orf116	205267560	0.970000	0.33590	0.963000	0.40424	0.792000	0.44763	1.050000	0.30404	0.629000	0.30376	0.655000	0.94253	GAG	C1orf116	-	NULL		0.612	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207200937	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.926	T	T	207200937	C	T	207200937	3	4	160	1	0	0	0	0	1	0	0	0	1994	893	31	1	1810	1	C1orf116	1	207200937	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3114162	207200937	42049684	198	28471										
G0S2	50486	genome.wustl.edu	37	chr1	209849101	209849101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcgcaaggggaagatggtGaagctgtacgtgctgggcag	18	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:209849101G>A	ENST00000367029.4	+	2	234	c.72G>A	c.(70-72)gtG>gtA	p.V24V	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	24					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GGAAGATGGTGAAGCTGTACG	0.652																																																	0													47	35	39					1																	209849101		2203	4299	6502	SO:0001819	synonymous_variant	50486				CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"putative lymphocyte G0/G1 switch gene"	614447	"G0/G1switch 2"			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.72G>A	1.37:g.209849101G>A			Q6FGC8	Silent	SNP	NULL	p.V24	ENST00000367029.4	37	c.72	CCDS1488.1	1																																																																																			G0S2	-	NULL		0.652	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G0S2	HGNC	protein_coding	OTTHUMT00000088732.1	G	NM_015714		209849101	1	no_errors	ENST00000367029	ensembl	human	known	70_37	silent	SNP	1.000	A	A	209849101	G	A	209849101	2	1	160	1	0	0	0	0	0	0	0	1	6157	1277	45	1		1	G0S2	1	209849101	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2648164	209849101	39401520	199	28472										
IRF6	3664	genome.wustl.edu	37	chr1	209963024	209963024	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttctcacctgaaccaagatGagtttcctttccaatggttt	6	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:209963024G>C	ENST00000367021.3	-	8	1339	c.1167C>G	c.(1165-1167)ctC>ctG	p.L389L	IRF6_ENST00000542854.1_Silent_p.L294L|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	389					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GAACCAAGATGAGTTTCCTTT	0.478										HNSCC(57;0.16)																																							0													166	136	146					1																	209963024		2203	4300	6503	SO:0001819	synonymous_variant	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1167C>G	1.37:g.209963024G>C			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.L389	ENST00000367021.3	37	c.1167	CCDS1492.1	1																																																																																			IRF6	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.478	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	G	NM_006147		209963024	-1	no_errors	ENST00000367021	ensembl	human	known	70_37	silent	SNP	1.000	C	C	209963024	G	C	209963024	2	2	160	1	0	0	0	0	0	0	0	1	7854	1277	45	1		1	IRF6	1	209963024	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	113923	209963024	39287597	200	28473										
C1orf107	27042	genome.wustl.edu	37	chr1	210010194	210010194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctctaagtttcagaagttgGaaacatttaaacccccaaag	6	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:210010194G>A	ENST00000491415.2	+	6	757	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	234					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCAGAAGTTGGAAACATTTAA	0.413																																																	0													93	104	100					1																	210010194		2203	4300	6503	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.700G>A	1.37:g.210010194G>A	ENSP00000419005:p.Glu234Lys		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.E234K	ENST00000491415.2	37	c.700	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101974	0.37048	.	.	ENSG00000117597	ENST00000491415	T	0.43294	0.95	5.91	5.91	0.95273	.	0.322090	0.38381	N	0.001715	T	0.25827	0.0629	N	0.26042	0.785	0.39221	D	0.963501	B	0.13145	0.007	B	0.12156	0.007	T	0.13818	-1.0495	10	0.07325	T	0.83	-22.0019	9.5404	0.39248	0.0789:0.1448:0.7763:0.0	.	234	Q68CQ4	DIEXF_HUMAN	K	234	ENSP00000419005:E234K	ENSP00000419005:E234K	E	+	1	0	DIEXF	208076817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.530000	0.53539	2.793000	0.96121	0.655000	0.94253	GAA	DIEXF	-	NULL		0.413	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	G	NM_014388		210010194	1	no_errors	ENST00000491415	ensembl	human	known	70_37	missense	SNP	1.000	A	A	210010194	G	A	210010194	3	1	160	1	0	0	0	0	1	0	0	0	1986	1175	41	1	722	1	C1orf107	1	210010194	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	47170	210010194	39240427	201	28474										
KCNH1	3756	genome.wustl.edu	37	chr1	210856728	210856728	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttctggaagttaatatcctGagtatctcagagagctgttt	9	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:210856728G>A	ENST00000271751.4	-	11	2892	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	KCNH1_ENST00000367007.4_Silent_p.L928L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	955	CAD (involved in subunit assembly). {ECO:0000250}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTAATATCCTGAGTATCTCAG	0.478																																																	0													93	86	89					1																	210856728		2203	4300	6503	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2865C>T	1.37:g.210856728G>A			B1AQ26|O76035|Q14CL3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.L955	ENST00000271751.4	37	c.2865	CCDS1496.1	1																																																																																			KCNH1	-	NULL		0.478	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	G	NM_002238		210856728	-1	no_errors	ENST00000271751	ensembl	human	known	70_37	silent	SNP	1.000	A	A	210856728	G	A	210856728	2	1	160	1	0	0	0	0	0	0	0	1	8051	1277	45	1		1	KCNH1	1	210856728	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	846534	210856728	38393893	202	28475										
BATF3	55509	genome.wustl.edu	37	chr1	212860190	212860190	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaggcactggcacaaagttCatagggcagagcagcagcgg	16	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:212860190C>G	ENST00000243440.1	-	3	549	c.327G>C	c.(325-327)atG>atC	p.M109I	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	109					dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		GCACAAAGTTCATAGGGCAGA	0.622																																																	0													100	94	96					1																	212860190		2203	4300	6503	SO:0001583	missense	55509			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"basic leucine zipper proteins"	28915	protein-coding gene	gene with protein product	"Jun dimerization protein 1"	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.327G>C	1.37:g.212860190C>G	ENSP00000243440:p.Met109Ile			Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.M109I	ENST00000243440.1	37	c.327	CCDS1508.1	1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916738	0.33815	.	.	ENSG00000123685	ENST00000243440	T	0.55052	0.54	5.11	4.18	0.49190	.	0.272209	0.32785	N	0.005654	T	0.44808	0.1311	L	0.60455	1.87	0.35219	D	0.775885	B	0.02656	0.0	B	0.01281	0.0	T	0.49437	-0.8940	10	0.26408	T	0.33	-3.554	8.2229	0.31552	0.0:0.7556:0.1597:0.0847	.	109	Q9NR55	BATF3_HUMAN	I	109	ENSP00000243440:M109I	ENSP00000243440:M109I	M	-	3	0	BATF3	210926813	1.000000	0.71417	0.985000	0.45067	0.911000	0.54048	2.640000	0.46579	1.122000	0.41944	0.655000	0.94253	ATG	BATF3	-	NULL		0.622	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF3	HGNC	protein_coding	OTTHUMT00000089403.1	C	NM_018664		212860190	-1	no_errors	ENST00000243440	ensembl	human	known	70_37	missense	SNP	0.997	G	G	212860190	C	G	212860190	3	3	160	1	0	0	0	0	1	0	0	0	1328	826	29	1	60	1	BATF3	1	212860190	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2003462	212860190	36390431	203	28476										
VASH2	79805	genome.wustl.edu	37	chr1	213125052	213125052	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgtcaacaagagcggcttCcccatcgacagccacacctg	8	17	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:213125052C>T	ENST00000517399.1	+	1	168	c.168C>T	c.(166-168)ttC>ttT	p.F56F	VASH2_ENST00000366968.4_5'UTR|VASH2_ENST00000366966.2_5'UTR|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_Intron|VASH2_ENST00000366967.2_Intron|VASH2_ENST00000366965.2_Silent_p.F56F			Q86V25	VASH2_HUMAN	vasohibin 2	56					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGAGCGGCTTCCCCATCGACA	0.667																																																	0																																										SO:0001819	synonymous_variant	79805			AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.168C>T	1.37:g.213125052C>T			B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	NULL	p.F56	ENST00000517399.1	37	c.168	CCDS1511.1	1																																																																																			VASH2	-	NULL		0.667	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH2	HGNC	protein_coding	OTTHUMT00000381686.1	C	NM_024749		213125052	1	no_errors	ENST00000517399	ensembl	human	known	70_37	silent	SNP	1.000	T	T	213125052	C	T	213125052	2	4	160	1	0	0	0	0	0	0	0	1	17157	854	30	1		1	VASH2	1	213125052	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	264862	213125052	36125569	204	28477										
CENPF	1063	genome.wustl.edu	37	chr1	214813659	214813659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacagcaaataaaaagtcatGaatacaacgagagagtaaga	8	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:214813659G>A	ENST00000366955.3	+	12	2146	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAAAGTCATGAATACAACGA	0.383																																					Colon(80;575 1284 11000 14801 43496)												0													51	50	50					1																	214813659		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1978G>A	1.37:g.214813659G>A	ENSP00000355922:p.Glu660Lys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E660K	ENST00000366955.3	37	c.1978	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509401	0.85282	.	.	ENSG00000117724	ENST00000366955	T	0.03951	3.75	5.69	5.69	0.88448	.	0.190810	0.25741	N	0.028618	T	0.12390	0.0301	.	.	.	0.34923	D	0.748649	D	0.63880	0.993	P	0.51777	0.679	T	0.03453	-1.1035	9	0.41790	T	0.15	.	18.0081	0.89215	0.0:0.0:1.0:0.0	.	660	P49454	CENPF_HUMAN	K	660	ENSP00000355922:E660K	ENSP00000355922:E660K	E	+	1	0	CENPF	212880282	1.000000	0.71417	0.372000	0.25991	0.991000	0.79684	5.434000	0.66526	2.678000	0.91216	0.609000	0.83330	GAA	CENPF	-	NULL		0.383	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214813659	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.820	A	A	214813659	G	A	214813659	3	1	160	1	0	0	0	0	1	0	0	0	3236	1291	45	1	2020	1	CENPF	1	214813659	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1688607	214813659	34436962	205	28478										
CENPF	1063	genome.wustl.edu	37	chr1	214814304	214814304	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaagcagaacagatgcatCaaagttttgtggctgaaaca	10	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:214814304C>G	ENST00000366955.3	+	12	2791	c.2623C>G	c.(2623-2625)Caa>Gaa	p.Q875E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAGATGCATCAAAGTTTTGT	0.403																																					Colon(80;575 1284 11000 14801 43496)												0													50	51	51					1																	214814304		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2623C>G	1.37:g.214814304C>G	ENSP00000355922:p.Gln875Glu		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.Q875E	ENST00000366955.3	37	c.2623	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	5.458	0.269558	0.10349	.	.	ENSG00000117724	ENST00000366955	T	0.02890	4.12	5.38	2.23	0.28157	.	0.000000	0.36409	N	0.002620	T	0.01940	0.0061	.	.	.	0.23435	N	0.997688	B	0.18968	0.032	B	0.15484	0.013	T	0.48080	-0.9066	9	0.12766	T	0.61	.	12.1627	0.54113	0.1707:0.325:0.5043:0.0	.	875	P49454	CENPF_HUMAN	E	875	ENSP00000355922:Q875E	ENSP00000355922:Q875E	Q	+	1	0	CENPF	212880927	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	0.851000	0.27751	0.587000	0.29643	0.609000	0.83330	CAA	CENPF	-	NULL		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214814304	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.758	G	G	214814304	C	G	214814304	3	3	160	1	0	0	0	0	1	0	0	0	3236	827	29	1	2665	1	CENPF	1	214814304	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	645	214814304	34436317	206	28479										
KCNK2	3776	genome.wustl.edu	37	chr1	215259917	215259917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgtgttcaaagcattggagCagcctcatgagatttcacag	10	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:215259917C>G	ENST00000444842.2	+	2	403	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	KCNK2_ENST00000391895.2_Missense_Mutation_p.Q81E|KCNK2_ENST00000391894.2_Missense_Mutation_p.Q70E	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	85					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.Q70K(1)|p.Q85K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	AGCATTGGAGCAGCCTCATGA	0.463																																																	2	Substitution - Missense(2)	lung(2)											128	114	119					1																	215259917		2203	4300	6503	SO:0001583	missense	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.253C>G	1.37:g.215259917C>G	ENSP00000394033:p.Gln85Glu		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.Q85E	ENST00000444842.2	37	c.253	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060541	0.76074	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;D;T;T;T	0.97328	1.93;-4.34;1.93;1.93;1.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.79926	2.475	0.80722	D	1	P;B;D	0.69078	0.917;0.112;0.997	P;B;D	0.74348	0.693;0.082;0.983	D	0.99293	1.0899	10	0.72032	D	0.01	.	19.5079	0.95127	0.0:1.0:0.0:0.0	.	70;85;81	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	E	81;81;29;70;85;29	ENSP00000375765:Q81E;ENSP00000420569:Q29E;ENSP00000375764:Q70E;ENSP00000394033:Q85E;ENSP00000413460:Q29E	ENSP00000355915:Q81E	Q	+	1	0	KCNK2	213326540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.612000	0.88384	0.557000	0.71058	CAG	KCNK2	-	prints_2pore_dom_K_chnl_TASK		0.463	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	C	NM_014217		215259917	1	no_errors	ENST00000444842	ensembl	human	known	70_37	missense	SNP	1.000	G	G	215259917	C	G	215259917	3	3	160	1	0	0	0	0	1	0	0	0	8086	711	25	4	302	4	KCNK2	1	215259917	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	445613	215259917	33990704	207	28480										
USH2A	7399	genome.wustl.edu	37	chr1	215953249	215953249	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agacctttcccaacctgcctGatctggtactctttaatgac	6	13	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:215953249G>C	ENST00000307340.3	-	55	11261	c.10875C>G	c.(10873-10875)atC>atG	p.I3625M	USH2A_ENST00000366943.2_Missense_Mutation_p.I3625M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3625	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCTGCCTGATCTGGTACT	0.502										HNSCC(13;0.011)																																							0													201	161	174					1																	215953249		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10875C>G	1.37:g.215953249G>C	ENSP00000305941:p.Ile3625Met		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.I3625M	ENST00000307340.3	37	c.10875	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041127	0.55003	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.64085	-0.08;-0.08	5.9	4.02	0.46733	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.570867	0.14438	N	0.319556	T	0.61999	0.2392	M	0.61703	1.905	0.22142	N	0.999335	P	0.39022	0.655	B	0.41619	0.361	T	0.58148	-0.7687	10	0.72032	D	0.01	.	10.379	0.44099	0.2022:0.0:0.7978:0.0	.	3625	O75445	USH2A_HUMAN	M	3625	ENSP00000305941:I3625M;ENSP00000355910:I3625M	ENSP00000305941:I3625M	I	-	3	3	USH2A	214019872	1.000000	0.71417	0.881000	0.34555	0.987000	0.75469	4.098000	0.57748	1.501000	0.48654	0.650000	0.86243	ATC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215953249	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.938	C	C	215953249	G	C	215953249	3	2	160	1	0	0	0	0	1	0	0	0	17067	1280	45	1	4805	1	USH2A	1	215953249	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	693332	215953249	33297372	208	28481										
USH2A	7399	genome.wustl.edu	37	chr1	216497640	216497640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actattttccttcttcctttGaatccttatttccgttggtt	4	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:216497640G>C	ENST00000307340.3	-	7	1584	c.1198C>G	c.(1198-1200)Caa>Gaa	p.Q400E	USH2A_ENST00000366942.3_Missense_Mutation_p.Q400E|USH2A_ENST00000366943.2_Missense_Mutation_p.Q400E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	400	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTTCCTTTGAATCCTTATT	0.318										HNSCC(13;0.011)																																							0													87	92	90					1																	216497640		2200	4296	6496	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1198C>G	1.37:g.216497640G>C	ENSP00000305941:p.Gln400Glu		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q400E	ENST00000307340.3	37	c.1198	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	9.723	1.160226	0.21454	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.78816	-1.21;-1.21;-1.21	5.52	4.58	0.56647	Laminin, N-terminal (3);	0.669334	0.12238	N	0.486805	T	0.62282	0.2415	N	0.12637	0.245	0.45108	D	0.998128	B;B	0.24258	0.056;0.1	B;B	0.30029	0.027;0.11	T	0.52480	-0.8570	10	0.05351	T	0.99	.	15.5651	0.76284	0.0:0.2773:0.7227:0.0	.	400;400	O75445-2;O75445	.;USH2A_HUMAN	E	400	ENSP00000305941:Q400E;ENSP00000355910:Q400E;ENSP00000355909:Q400E	ENSP00000305941:Q400E	Q	-	1	0	USH2A	214564263	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.393000	0.59665	1.262000	0.44165	0.655000	0.94253	CAA	USH2A	-	smart_Laminin_N,pfscan_Laminin_N		0.318	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		216497640	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	C	C	216497640	G	C	216497640	3	2	160	1	0	0	0	0	1	0	0	0	17067	1299	45	1	14688	1	USH2A	1	216497640	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	544391	216497640	32752981	209	28482										
IARS2	55699	genome.wustl.edu	37	chr1	220311328	220311328	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtagctgattccaatgtcttCaccgaagttgcaattggccc	9	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:220311328C>T	ENST00000302637.5	+	17	2222	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	IARS2_ENST00000366922.1_Silent_p.F634F|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	706					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCAATGTCTTCACCGAAGTTG	0.408																																																	0													156	138	144					1																	220311328		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2118C>T	1.37:g.220311328C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.F706	ENST00000302637.5	37	c.2118	CCDS1523.1	1																																																																																			IARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-ligase		0.408	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220311328	1	no_errors	ENST00000302637	ensembl	human	known	70_37	silent	SNP	0.994	T	T	220311328	C	T	220311328	2	4	160	1	0	0	0	0	0	0	0	1	7494	825	29	1		1	IARS2	1	220311328	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3813688	220311328	28939293	210	28483										
SUSD4	55061	genome.wustl.edu	37	chr1	223408322	223408322	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagatgtggtggtgctagttGaggaacaggtaggtgctggg	20	3	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:223408322G>C	ENST00000343846.3	-	5	1358				SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.S282*|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTGCTAGTTGAGGAACAGGT	0.428																																																	0													149	146	147					1																	223408322		2203	4300	6503	SO:0001627	intron_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5592C>G	1.37:g.223408322G>C			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S282*	ENST00000343846.3	37	c.845	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481079	0.26598	.	.	ENSG00000143502	ENST00000344029	.	.	.	2.32	-0.0801	0.13708	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.0601	0.09834	0.1604:0.3134:0.5262:0.0	.	.	.	.	X	282	.	ENSP00000339926:S282X	S	-	2	0	SUSD4	221474945	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-1.556000	0.02168	-0.227000	0.09884	-0.463000	0.05309	TCA	SUSD4	-	NULL		0.428	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	G	NM_017982		223408322	-1	no_errors	ENST00000344029	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	223408322	G	C	223408322	1	2	160	0	1	0	0	0	0	0	0	0	15440	1294	45	1		1	SUSD4	1	223408322	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3096994	223408322	25842299	211	28484										
PARP1	142	genome.wustl.edu	37	chr1	226589952	226589952	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccgctgtcttcttgactttCtgctggtcatcccaccgaag	8	14	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:226589952C>T	ENST00000366794.5	-	2	392	c.249G>A	c.(247-249)caG>caA	p.Q83Q	PARP1_ENST00000366790.3_Silent_p.Q83Q|PARP1_ENST00000366791.5_Silent_p.Q83Q|PARP1_ENST00000366792.1_Silent_p.Q83Q	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	83					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTTGACTTTCTGCTGGTCAT	0.592								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													100	85	90					1																	226589952		2203	4300	6503	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.249G>A	1.37:g.226589952C>T			B1ANJ4|Q8IUZ9	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.Q83	ENST00000366794.5	37	c.249	CCDS1554.1	1																																																																																			PARP1	-	pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP		0.592	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	C	NM_001618		226589952	-1	no_errors	ENST00000366794	ensembl	human	known	70_37	silent	SNP	1.000	T	T	226589952	C	T	226589952	2	4	160	1	0	0	0	0	0	0	0	1	11478	912	32	1		1	PARP1	1	226589952	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3181630	226589952	22660669	212	28485										
RHOU	58480	genome.wustl.edu	37	chr1	228879058	228879058	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgacaagctgaggcctctCtgctacaccaacacagacat	7	13	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:228879058C>G	ENST00000366691.3	+	3	1014	c.348C>G	c.(346-348)ctC>ctG	p.L116L		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGAGGCCTCTCTGCTACACCA	0.458																																																	0													206	211	209					1																	228879058		2203	4300	6503	SO:0001819	synonymous_variant	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.348C>G	1.37:g.228879058C>G				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L116	ENST00000366691.3	37	c.348	CCDS1575.1	1																																																																																			RHOU	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.458	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1	C	NM_021205		228879058	1	no_errors	ENST00000366691	ensembl	human	known	70_37	silent	SNP	1.000	G	G	228879058	C	G	228879058	2	3	160	1	0	0	0	0	0	0	0	1	13375	900	32	1		1	RHOU	1	228879058	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2289106	228879058	20371563	213	28486										
PCNXL2	80003	genome.wustl.edu	37	chr1	233388160	233388160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcttcttgtacagatgtttCaggcccactgatgacttgca	8	11	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:233388160C>G	ENST00000258229.9	-	7	2302	c.2068G>C	c.(2068-2070)Gaa>Caa	p.E690Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	690						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACAGATGTTTCAGGCCCACTG	0.393																																																	0													128	120	122					1																	233388160		1906	4124	6030	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2068G>C	1.37:g.233388160C>G	ENSP00000258229:p.Glu690Gln		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.E690Q	ENST00000258229.9	37	c.2068	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370351	0.82573	.	.	ENSG00000135749	ENST00000258229	T	0.38240	1.15	5.35	5.35	0.76521	.	.	.	.	.	T	0.37812	0.1017	L	0.27053	0.805	0.80722	D	1	P	0.50443	0.935	P	0.48368	0.575	T	0.22417	-1.0217	9	0.62326	D	0.03	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	690	A6NKB5	PCX2_HUMAN	Q	690	ENSP00000258229:E690Q	ENSP00000258229:E690Q	E	-	1	0	PCNXL2	231454783	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.149000	0.71795	2.666000	0.90696	0.557000	0.71058	GAA	PCNXL2	-	NULL		0.393	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233388160	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	1.000	G	G	233388160	C	G	233388160	3	3	160	1	0	0	0	0	1	0	0	0	11616	835	29	1	4457	1	PCNXL2	1	233388160	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4509102	233388160	15862461	214	28487										
PCNXL2	80003	genome.wustl.edu	37	chr1	233394536	233394536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggttgagaagtatcgatgaGagtaacagctacctcactat	11	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:233394536G>C	ENST00000258229.9	-	5	1306	c.1072C>G	c.(1072-1074)Ctc>Gtc	p.L358V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	358						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTATCGATGAGAGTAACAGCT	0.512																																																	0													98	99	99					1																	233394536		2017	4191	6208	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1072C>G	1.37:g.233394536G>C	ENSP00000258229:p.Leu358Val		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.L358V	ENST00000258229.9	37	c.1072	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705368	0.30232	.	.	ENSG00000135749	ENST00000258229	T	0.63255	-0.03	4.73	3.81	0.43845	.	.	.	.	.	T	0.42810	0.1219	L	0.27053	0.805	0.80722	D	1	B	0.23540	0.087	B	0.17433	0.018	T	0.30238	-0.9985	9	0.31617	T	0.26	.	4.9867	0.14192	0.0828:0.1452:0.6222:0.1497	.	358	A6NKB5	PCX2_HUMAN	V	358	ENSP00000258229:L358V	ENSP00000258229:L358V	L	-	1	0	PCNXL2	231461159	1.000000	0.71417	0.061000	0.19648	0.023000	0.10783	2.611000	0.46334	1.340000	0.45581	0.655000	0.94253	CTC	PCNXL2	-	NULL		0.512	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233394536	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.947	C	C	233394536	G	C	233394536	3	2	160	1	0	0	0	0	1	0	0	0	11616	942	33	1	5461	1	PCNXL2	1	233394536	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6376	233394536	15856085	215	28488										
LGALS8	3964	genome.wustl.edu	37	chr1	236708213	236708213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttagtcctgggatgtactttGaggtgaggttacagtttttg	13	4	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:236708213G>C	ENST00000366584.4	+	9	1368	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	LGALS8_ENST00000352231.2_Missense_Mutation_p.E310Q|LGALS8_ENST00000527974.1_Missense_Mutation_p.E310Q|LGALS8_ENST00000450372.2_Missense_Mutation_p.E310Q|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000416919.2_Missense_Mutation_p.E251Q|LGALS8_ENST00000526634.1_Missense_Mutation_p.E268Q|LGALS8_ENST00000323938.6_Missense_Mutation_p.E241Q|LGALS8_ENST00000341872.6_Missense_Mutation_p.E268Q|LGALS8_ENST00000526589.1_Missense_Mutation_p.E310Q|LGALS8_ENST00000525042.1_Missense_Mutation_p.E251Q	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	268	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATGTACTTTGAGGTGAGGTT	0.398																																																	0													65	68	67					1																	236708213		2203	4300	6503	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.802G>C	1.37:g.236708213G>C	ENSP00000355543:p.Glu268Gln		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.E310Q	ENST00000366584.4	37	c.928	CCDS1612.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.211715	0.95069	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.99;0.997;0.964	T	0.00045	-1.2216	10	0.40728	T	0.16	-7.99	19.6142	0.95626	0.0:0.0:1.0:0.0	.	251;268;310	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	Q	310;310;310;268;310;268;309;251;241;268;251	ENSP00000431398:E310Q;ENSP00000309576:E310Q;ENSP00000435460:E310Q;ENSP00000342139:E268Q;ENSP00000408657:E310Q;ENSP00000355543:E268Q;ENSP00000410843:E251Q;ENSP00000434860:E241Q;ENSP00000437040:E268Q;ENSP00000431884:E251Q	ENSP00000434860:E241Q	E	+	1	0	LGALS8	234774836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.916000	0.92745	2.941000	0.99782	0.655000	0.94253	GAG	LGALS8	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.398	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	G	NM_006499		236708213	1	no_errors	ENST00000352231	ensembl	human	known	70_37	missense	SNP	1.000	C	C	236708213	G	C	236708213	3	2	160	1	0	0	0	0	1	0	0	0	8767	1291	45	1	962	1	LGALS8	1	236708213	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3313677	236708213	12542408	216	28489										
HEATR1	55127	genome.wustl.edu	37	chr1	236750791	236750791	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgaagtgttctttgaaaatCtaaagggaaaaaaatatcca	7	5	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:236750791C>G	ENST00000366582.3	-	14	1741		c.e14-1		HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGAAAATCTAAAGGGAAA	0.308																																																	0													32	31	31					1																	236750791		2198	4284	6482	SO:0001630	splice_region_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1627-1G>C	1.37:g.236750791C>G			Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	-	e13-1	ENST00000366582.3	37	c.1627-1	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209026	0.39003	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6679	0.85258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR1	234817414	1.000000	0.71417	0.998000	0.56505	0.336000	0.28762	3.042000	0.49815	2.530000	0.85305	0.655000	0.94253	.	HEATR1	-	-		0.308	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853	Intron	236750791	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	236750791	C	G	236750791	5	3	160	1	0	0	0	0	0	0	1	0	7047	927	32	1	4936	1	HEATR1	1	236750791	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	42578	236750791	12499830	217	28490										
RYR2	6262	genome.wustl.edu	37	chr1	237617847	237617847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacagactacgagccctgaaGaatcggcaaaatctcttcca	7	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:237617847G>A	ENST00000366574.2	+	15	1766	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	RYR2_ENST00000542537.1_Silent_p.K467K|RYR2_ENST00000360064.6_Silent_p.K481K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	483					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCCCTGAAGAATCGGCAAA	0.433																																																	0													67	67	67					1																	237617847		1877	4108	5985	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1449G>A	1.37:g.237617847G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.K481	ENST00000366574.2	37	c.1443	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ca-rel_channel		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237617847	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A	A	237617847	G	A	237617847	2	1	160	1	0	0	0	0	0	0	0	1	13799	933	33	1		1	RYR2	1	237617847	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	867056	237617847	11632774	218	28491										
RYR2	6262	genome.wustl.edu	37	chr1	237947564	237947564	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacgaaggcggagagaaagaGaagatggaactctttgtgaa	14	4	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E4190E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGAAAGAGAAGATGGAAC	0.507																																																	0													86	90	89					1																	237947564		1986	4185	6171	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12552G>A	1.37:g.237947564G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E4190	ENST00000366574.2	37	c.12570	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237947564	1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	1.000	A	A	237947564	G	A	237947564	2	1	160	1	0	0	0	0	0	0	0	1	13799	933	33	1		1	RYR2	1	237947564	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	329717	237947564	11303057	219	28492										
CEP170	9859	genome.wustl.edu	37	chr1	243327601	243327601	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttacctgaagcagagccatGagctgaggtcatacttttga	10	8	1	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:243327601G>C	ENST00000366542.1	-	13	3712	c.3661C>G	c.(3661-3663)Cat>Gat	p.H1221D	CEP170_ENST00000366544.1_Missense_Mutation_p.H1123D|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.H1123D|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1221	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCAGAGCCATGAGCTGAGGTC	0.378																																																	0													67	60	62					1																	243327601		1839	4095	5934	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3661C>G	1.37:g.243327601G>C	ENSP00000355500:p.His1221Asp		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.H1221D	ENST00000366542.1	37	c.3661	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183807	0.38609	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008;ENST00000413359	T;T;T;T	0.47528	0.95;0.94;0.84;2.0	4.96	4.96	0.65561	.	0.052620	0.85682	D	0.000000	T	0.50582	0.1624	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.69078	0.997;0.984;0.984;0.994	D;D;D;D	0.81914	0.995;0.964;0.964;0.985	T	0.45145	-0.9281	10	0.17369	T	0.5	-11.6005	17.5596	0.87902	0.0:0.0:1.0:0.0	.	1184;1123;1123;1221	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	D	1221;1123;1123;182;66	ENSP00000355500:H1221D;ENSP00000355502:H1123D;ENSP00000355501:H1123D;ENSP00000394002:H66D	ENSP00000355500:H1221D	H	-	1	0	CEP170	241394224	1.000000	0.71417	0.948000	0.38648	0.979000	0.70002	5.486000	0.66856	2.436000	0.82500	0.555000	0.69702	CAT	CEP170	-	NULL		0.378	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243327601	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	0.994	C	C	243327601	G	C	243327601	3	2	160	1	0	0	0	0	1	0	0	0	3255	1290	45	1	1155	1	CEP170	1	243327601	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5380037	243327601	5923020	220	28493										
SDCCAG8	10806	genome.wustl.edu	37	chr1	243507589	243507589	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggcagaaaaggagcacagaGagttcagagcaaaaactaac	11	7	1	3	rs556191085		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:243507589G>C	ENST00000366541.3	+	12	1547	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E332Q|MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E434Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	477	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGAGCACAGAGAGTTCAGAGC	0.378													G|||	1	0.000199681	8e-04	0	5008	,	,		18128	0		0	False		,,,				2504	0																0													111	108	109					1																	243507589		2203	4300	6503	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1429G>C	1.37:g.243507589G>C	ENSP00000355499:p.Glu477Gln		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.E477Q	ENST00000366541.3	37	c.1429	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576508	0.65878	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.51071	0.82;0.81;0.81;0.72	6.07	5.15	0.70609	.	0.294188	0.36066	N	0.002811	T	0.42966	0.1226	L	0.29908	0.895	0.41058	D	0.985357	P;D	0.53462	0.928;0.96	B;P	0.47891	0.295;0.56	T	0.22277	-1.0221	10	0.21014	T	0.42	-1.2316	15.6863	0.77411	0.066:0.0:0.934:0.0	.	434;477	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	Q	434;477;332;257	ENSP00000348137:E434Q;ENSP00000355499:E477Q;ENSP00000341260:E332Q;ENSP00000410200:E257Q	ENSP00000341260:E332Q	E	+	1	0	SDCCAG8	241574212	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.373000	0.59537	1.558000	0.49541	0.585000	0.79938	GAG	SDCCAG8	-	NULL		0.378	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	G	NM_006642		243507589	1	no_errors	ENST00000366541	ensembl	human	known	70_37	missense	SNP	1.000	C	C	243507589	G	C	243507589	3	2	160	1	0	0	0	0	1	0	0	0	13989	943	33	1	1475	1	SDCCAG8	1	243507589	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	179988	243507589	5743032	221	28494										
KIF26B	55083	genome.wustl.edu	37	chr1	245850330	245850330	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctgtctgagatgggagatGactctttcaacaaagcagcc	10	10	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:245850330G>A	ENST00000407071.2	+	12	4485	c.4045G>A	c.(4045-4047)Gac>Aac	p.D1349N	KIF26B_ENST00000366518.4_Missense_Mutation_p.D968N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1349					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GATGGGAGATGACTCTTTCAA	0.552																																																	0													55	61	59					1																	245850330		2064	4223	6287	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4045G>A	1.37:g.245850330G>A	ENSP00000385545:p.Asp1349Asn		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1349N	ENST00000407071.2	37	c.4045	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	7.826	0.718800	0.15372	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78924	-1.22;-1.22	5.82	5.82	0.92795	.	.	.	.	.	T	0.68412	0.2998	L	0.46157	1.445	0.09310	N	0.999996	B;B	0.32245	0.361;0.181	B;B	0.24155	0.051;0.051	T	0.57957	-0.7721	9	0.23891	T	0.37	.	11.3288	0.49465	0.0694:0.1285:0.8022:0.0	.	968;1349	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1349;968;965	ENSP00000385545:D1349N;ENSP00000355475:D968N	ENSP00000355475:D968N	D	+	1	0	KIF26B	243916953	0.928000	0.31464	0.089000	0.20774	0.017000	0.09413	2.427000	0.44740	2.756000	0.94617	0.561000	0.74099	GAC	KIF26B	-	NULL		0.552	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245850330	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	0.256	A	A	245850330	G	A	245850330	3	1	160	1	0	0	0	0	1	0	0	0	8315	1290	45	1	4091	1	KIF26B	1	245850330	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2342741	245850330	3400291	222	28495										
OR14C36	127066	genome.wustl.edu	37	chr1	248512656	248512656	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctctgacaccttcagcaatGaggtcatgattgttgtctct	9	10	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:248512656G>C	ENST00000317861.1	+	1	580	c.580G>C	c.(580-582)Gag>Cag	p.E194Q		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCAGCAATGAGGTCATGAT	0.493																																																	0													160	144	149					1																	248512656		2203	4300	6503	SO:0001583	missense	127066			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.580G>C	1.37:g.248512656G>C	ENSP00000324534:p.Glu194Gln		Q6IEZ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E194Q	ENST00000317861.1	37	c.580	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915676	0.33815	.	.	ENSG00000177174	ENST00000317861	T	0.00237	8.47	4.05	0.988	0.19796	GPCR, rhodopsin-like superfamily (1);	0.558525	0.15228	N	0.273584	T	0.00178	0.0005	L	0.49256	1.55	0.09310	N	1	B	0.19583	0.037	B	0.29077	0.098	T	0.36089	-0.9762	10	0.66056	D	0.02	.	4.6845	0.12752	0.2605:0.0:0.5743:0.1653	.	194	Q8NHC7	O14CZ_HUMAN	Q	194	ENSP00000324534:E194Q	ENSP00000324534:E194Q	E	+	1	0	OR14C36	246579279	0.000000	0.05858	0.000000	0.03702	0.724000	0.41520	-0.246000	0.08878	0.034000	0.15491	0.395000	0.25975	GAG	OR14C36	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.493	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	G	NM_001001918		248512656	1	no_errors	ENST00000317861	ensembl	human	known	70_37	missense	SNP	0.001	C	C	248512656	G	C	248512656	3	2	160	1	0	0	0	0	1	0	0	0	10970	1291	45	1	582	1	OR14C36	1	248512656	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2662326	248512656	737965	223	28496										
OR2T27	403239	genome.wustl.edu	37	chr1	248813928	248813928	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaatggctctctggctcatCacctggtcgaccagcatttt	9	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr1:248813928C>T	ENST00000344889.3	-	1	257	c.258G>A	c.(256-258)gtG>gtA	p.V86V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGGCTCATCACCTGGTCGA	0.547																																																	0													35	23	27					1																	248813928		2197	4256	6453	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.258G>A	1.37:g.248813928C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V86	ENST00000344889.3	37	c.258	CCDS31124.1	1																																																																																			OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	C	NM_001001824		248813928	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	silent	SNP	0.000	T	T	248813928	C	T	248813928	2	4	160	1	0	0	0	0	0	0	0	1	11045	813	29	1		1	OR2T27	1	248813928	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	301272	248813928	436693	224	28497										
SNTG2	54221	genome.wustl.edu	37	chr2	1251136	1251136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtaaatgagaaactccaagGagctgactcctctcaaacct	8	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:1251136G>A	ENST00000308624.5	+	12	1055	c.926G>A	c.(925-927)gGa>gAa	p.G309E	SNTG2_ENST00000407292.1_Missense_Mutation_p.G182E	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	309	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAACTCCAAGGAGCTGACTCC	0.498																																																	0													62	64	64					2																	1251136		2035	4200	6235	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.926G>A	2.37:g.1251136G>A	ENSP00000311837:p.Gly309Glu		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G309E	ENST00000308624.5	37	c.926	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153269	0.21371	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68331	1.18;-0.32	5.47	3.68	0.42216	Pleckstrin homology domain (1);	0.852754	0.10492	N	0.668348	T	0.67970	0.2950	L	0.46157	1.445	0.51012	D	0.999904	D;P	0.58620	0.983;0.949	P;P	0.54544	0.755;0.476	T	0.56980	-0.7889	10	0.10377	T	0.69	.	11.1766	0.48603	0.1508:0.0:0.8492:0.0	.	182;309	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	E	309;182	ENSP00000311837:G309E;ENSP00000385020:G182E	ENSP00000311837:G309E	G	+	2	0	SNTG2	1233687	1.000000	0.71417	0.030000	0.17652	0.036000	0.12997	3.614000	0.54160	0.671000	0.31185	0.650000	0.86243	GGA	SNTG2	-	NULL		0.498	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1251136	1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.949	A	A	1251136	G	A	1251136	3	1	160	1	0	0	0	0	1	0	0	0	14905	1174	41	1	972	1	SNTG2	2	1251136	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		1251136	241948237	225	28498										
ALLC	55821	genome.wustl.edu	37	chr2	3727551	3727551	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcacgggagattacgctcctCgagtgtccattcaagcagca	10	12	2	1	rs200659457	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:3727551C>G	ENST00000252505.3	+	5	427	c.265C>G	c.(265-267)Cga>Gga	p.R89G		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	108					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTACGCTCCTCGAGTGTCCAT	0.547										HNSCC(21;0.051)																																							0													122	128	126					2																	3727551		2071	4203	6274	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.265C>G	2.37:g.3727551C>G	ENSP00000252505:p.Arg89Gly		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.R89G	ENST00000252505.3	37	c.265	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490913	0.26774	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	4.85	0.62838	Allantoicase domain (1);Galactose-binding domain-like (1);	0.412136	0.26210	N	0.025682	T	0.63379	0.2506	M	0.65975	2.015	0.40916	D	0.984274	B	0.26318	0.146	B	0.35353	0.201	T	0.58741	-0.7583	9	0.23302	T	0.38	-7.0753	14.6003	0.68435	0.146:0.854:0.0:0.0	.	108	Q8N6M5	ALLC_HUMAN	G	89	.	ENSP00000252505:R89G	R	+	1	2	ALLC	3705426	0.604000	0.26932	0.864000	0.33941	0.073000	0.16967	2.042000	0.41222	2.884000	0.98904	0.655000	0.94253	CGA	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	C			3727551	1	no_errors	ENST00000252505	ensembl	human	known	70_37	missense	SNP	0.990	G	G	3727551	C	G	3727551	3	3	160	1	0	0	0	0	1	0	0	0	534	876	31	1	279	1	ALLC	2	3727551	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2476415	3727551	239471822	226	28499										
SOX11	6664	genome.wustl.edu	37	chr2	5833067	5833067	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaagatcatggagcagtctCcggacatgcacaacgccgag	13	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:5833067C>G	ENST00000322002.3	+	1	269	c.214C>G	c.(214-216)Ccg>Gcg	p.P72A	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	72					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGAGCAGTCTCCGGACATGCA	0.597																																																	0													69	63	65					2																	5833067		2203	4300	6503	SO:0001583	missense	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.214C>G	2.37:g.5833067C>G	ENSP00000322568:p.Pro72Ala		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.P72A	ENST00000322002.3	37	c.214	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168844	0.78339	.	.	ENSG00000176887	ENST00000322002	D	0.99652	-6.3	3.16	3.16	0.36331	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000005	D	0.99680	0.9880	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97412	1.0003	10	0.87932	D	0	.	14.6126	0.68526	0.0:1.0:0.0:0.0	.	72	P35716	SOX11_HUMAN	A	72	ENSP00000322568:P72A	ENSP00000322568:P72A	P	+	1	0	SOX11	5750518	1.000000	0.71417	0.890000	0.34922	0.940000	0.58332	7.435000	0.80391	1.453000	0.47775	0.478000	0.44815	CCG	SOX11	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily		0.597	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	C	NM_003108		5833067	1	no_errors	ENST00000322002	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5833067	C	G	5833067	3	3	160	1	0	0	0	0	1	0	0	0	14972	855	30	1	216	1	SOX11	2	5833067	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2105516	5833067	237366306	227	28500										
ID2	3398	genome.wustl.edu	37	chr2	8822502	8822502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaatcctgcagcacgtcatCgactacatcttggacctgca	8	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:8822502C>T	ENST00000234091.4	+	3	1067	c.207C>T	c.(205-207)atC>atT	p.I69I	ID2_ENST00000331129.3_Silent_p.I69I|ID2_ENST00000396290.1_Silent_p.I69I|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	69	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCACGTCATCGACTACATCT	0.567																																																	0													80	78	78					2																	8822502		2203	4300	6503	SO:0001819	synonymous_variant	3398				CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"Basic helix-loop-helix proteins"	5361	protein-coding gene	gene with protein product	"cell growth-inhibiting gene 8"	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.207C>T	2.37:g.8822502C>T				Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.I69	ENST00000234091.4	37	c.207	CCDS1659.1	2																																																																																			ID2	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.567	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID2	HGNC	protein_coding	OTTHUMT00000231925.2	C	NM_002166		8822502	1	no_errors	ENST00000234091	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8822502	C	T	8822502	2	4	160	1	0	0	0	0	0	0	0	1	7510	874	31	1		1	ID2	2	8822502	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2989435	8822502	234376871	228	28501										
KIDINS220	57498	genome.wustl.edu	37	chr2	8873633	8873633	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggccaagcgtgttcagctCttcgaagctgaagttgagtg	13	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:8873633C>G	ENST00000256707.3	-	29	4175	c.3994G>C	c.(3994-3996)Gag>Cag	p.E1332Q	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1313Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1313Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1233Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1332					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGTTCAGCTCTTCGAAGCTG	0.527																																																	0													103	100	101					2																	8873633		1987	4167	6154	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3994G>C	2.37:g.8873633C>G	ENSP00000256707:p.Glu1332Gln		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1332Q	ENST00000256707.3	37	c.3994	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000563	0.93227	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024	T;T;T;T;T;T	0.75050	0.27;-0.89;-0.9;-0.87;-0.9;-0.78	5.1	5.1	0.69264	.	0.166441	0.52532	D	0.000069	T	0.82240	0.4994	M	0.71581	2.175	0.58432	D	0.99999	B;B;B;P	0.37663	0.05;0.403;0.281;0.604	B;P;B;B	0.48488	0.166;0.579;0.375;0.433	D	0.84097	0.0393	10	0.87932	D	0	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	1276;1233;1332;186	E9PH70;Q9ULH0-2;Q9ULH0;B4DG84	.;.;KDIS_HUMAN;.	Q	1022;959;1332;1313;1233;1313;1276	ENSP00000420364:E1022Q;ENSP00000256707:E1332Q;ENSP00000411849:E1313Q;ENSP00000414923:E1233Q;ENSP00000418974:E1313Q;ENSP00000419964:E1276Q	ENSP00000256707:E1332Q	E	-	1	0	KIDINS220	8791084	1.000000	0.71417	0.918000	0.36340	0.924000	0.55760	7.407000	0.80029	2.531000	0.85337	0.591000	0.81541	GAG	KIDINS220	-	NULL		0.527	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8873633	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8873633	C	G	8873633	3	3	160	1	0	0	0	0	1	0	0	0	8291	922	32	1	1329	1	KIDINS220	2	8873633	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	51131	8873633	234325740	229	28502										
ITGB1BP1	9270	genome.wustl.edu	37	chr2	9554375	9554375	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgaaagacccccaaggctaGaatccacagactgagaaaca	9	11	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:9554375G>C	ENST00000360635.3	-	4	979	c.83C>G	c.(82-84)tCt>tGt	p.S28C	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.S28C|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.S28C			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	28	Ser/Thr-rich.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CCCAAGGCTAGAATCCACAGA	0.448																																																	0													119	120	120					2																	9554375		2203	4300	6503	SO:0001583	missense	9270			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.83C>G	2.37:g.9554375G>C	ENSP00000353850:p.Ser28Cys		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	pfam_Integrin-bd_ICAP-1,smart_PTyr_interaction_dom	p.S28C	ENST00000360635.3	37	c.83	CCDS1662.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079043	0.76528	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.996	T	0.70802	-0.4773	9	0.87932	D	0	-16.9605	19.861	0.96785	0.0:0.0:1.0:0.0	.	28;28;28	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	C	28	.	ENSP00000238091:S28C	S	-	2	0	ITGB1BP1	9471826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.532000	0.98057	2.767000	0.95098	0.655000	0.94253	TCT	ITGB1BP1	-	pfam_Integrin-bd_ICAP-1		0.448	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2	G	NM_004763, NM_022334		9554375	-1	no_errors	ENST00000355346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9554375	G	C	9554375	3	2	160	1	0	0	0	0	1	0	0	0	7911	942	33	1	539	1	ITGB1BP1	2	9554375	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	680742	9554375	233644998	230	28503										
NOL10	79954	genome.wustl.edu	37	chr2	10829970	10829970	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtaaatcttcacctcattGaggctggagacctgcatggc	10	11	3	2	rs374802991		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:10829970G>A	ENST00000381685.5	-	1	123	c.18C>T	c.(16-18)ctC>ctT	p.L6L	NOL10_ENST00000345985.3_Silent_p.L6L|NOL10_ENST00000538384.1_Silent_p.L6L|RN7SL832P_ENST00000607781.1_lincRNA|NOL10_ENST00000542668.1_5'UTR	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	6						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCACCTCATTGAGGCTGGAGA	0.622																																																	0													62	53	56					2																	10829970		2203	4300	6503	SO:0001819	synonymous_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.18C>T	2.37:g.10829970G>A			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L6	ENST00000381685.5	37	c.18	CCDS1673.2	2																																																																																			NOL10	-	NULL		0.622	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	G	NM_024894		10829970	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10829970	G	A	10829970	2	1	160	1	0	0	0	0	0	0	0	1	10544	1277	45	1		1	NOL10	2	10829970	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1275595	10829970	232369403	231	28504										
TRIB2	28951	genome.wustl.edu	37	chr2	12880670	12880670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatgacattgaacccagctCcctcttcagcaagatccggc	7	16	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:12880670C>T	ENST00000155926.4	+	3	2201	c.782C>T	c.(781-783)tCc>tTc	p.S261F	TRIB2_ENST00000381465.2_Missense_Mutation_p.S125F	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAACCCAGCTCCCTCTTCAGC	0.597																																																	0													92	66	74					2																	12880670		2203	4300	6503	SO:0001583	missense	28951			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.782C>T	2.37:g.12880670C>T	ENSP00000155926:p.Ser261Phe			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.S261F	ENST00000155926.4	37	c.782	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386465	0.82902	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.74526	-0.85;-0.85	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	L	0.55213	1.73	0.80722	D	1	D	0.58620	0.983	P	0.58928	0.848	T	0.82744	-0.0306	10	0.66056	D	0.02	-26.9357	19.354	0.94404	0.0:1.0:0.0:0.0	.	261	Q92519	TRIB2_HUMAN	F	261;125	ENSP00000155926:S261F;ENSP00000370874:S125F	ENSP00000155926:S261F	S	+	2	0	TRIB2	12798121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	TCC	TRIB2	-	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		0.597	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	C	NM_021643		12880670	1	no_errors	ENST00000155926	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12880670	C	T	12880670	3	4	160	1	0	0	0	0	1	0	0	0	16514	855	30	1	792	1	TRIB2	2	12880670	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2050700	12880670	230318703	232	28505										
FAM49A	81553	genome.wustl.edu	37	chr2	16734221	16734221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctctactgaagcattgctcGaatctgtttggaagttgatt	10	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:16734221G>C	ENST00000381323.3	-	12	1175	c.955C>G	c.(955-957)Cga>Gga	p.R319G	FAM49A_ENST00000406434.1_Missense_Mutation_p.R319G|FAM49A_ENST00000355549.2_Missense_Mutation_p.R319G	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	319						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGCATTGCTCGAATCTGTTTG	0.398																																																	0													214	187	196					2																	16734221		2203	4300	6503	SO:0001583	missense	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.955C>G	2.37:g.16734221G>C	ENSP00000370724:p.Arg319Gly		B3KNZ1|Q53QW2	Missense_Mutation	SNP	pfam_DUF1394	p.R319G	ENST00000381323.3	37	c.955	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947178	0.73672	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.51071	0.72;0.72;0.72	5.66	4.73	0.59995	.	0.060445	0.64402	D	0.000004	T	0.57475	0.2056	M	0.65498	2.005	0.54753	D	0.999983	P	0.47545	0.897	P	0.50659	0.647	T	0.62029	-0.6940	10	0.87932	D	0	-8.2843	14.8773	0.70504	0.0:0.0:0.8562:0.1438	.	319	Q9H0Q0	FA49A_HUMAN	G	319	ENSP00000370724:R319G;ENSP00000384771:R319G;ENSP00000347744:R319G	ENSP00000347744:R319G	R	-	1	2	FAM49A	16597702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.419000	0.44671	2.840000	0.97914	0.655000	0.94253	CGA	FAM49A	-	pfam_DUF1394		0.398	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	G	NM_030797		16734221	-1	no_errors	ENST00000355549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16734221	G	C	16734221	3	2	160	1	0	0	0	0	1	0	0	0	5593	1066	37	1	20	1	FAM49A	2	16734221	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3853551	16734221	226465152	233	28506										
RAD51AP2	729475	genome.wustl.edu	37	chr2	17698314	17698314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacgagaagctttgattgttCttcatatgcattgatgactt	8	6	2	4	rs528026645		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:17698314C>T	ENST00000399080.2	-	1	1392	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	457										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGATTGTTCTTCATATGCA	0.318																																																	0													66	60	62					2																	17698314		1825	4080	5905	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1369G>A	2.37:g.17698314C>T	ENSP00000382030:p.Glu457Lys			Missense_Mutation	SNP	NULL	p.E457K	ENST00000399080.2	37	c.1369	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	4.287	0.052529	0.08291	.	.	ENSG00000214842	ENST00000399080	T	0.21734	1.99	4.63	1.69	0.24217	.	.	.	.	.	T	0.09774	0.0240	N	0.11560	0.145	0.09310	N	1	B	0.23891	0.093	B	0.19666	0.026	T	0.39292	-0.9621	9	0.18276	T	0.48	.	7.5584	0.27837	0.0:0.6284:0.0:0.3716	.	457	Q09MP3	R51A2_HUMAN	K	457	ENSP00000382030:E457K	ENSP00000382030:E457K	E	-	1	0	RAD51AP2	17561795	0.015000	0.18098	0.000000	0.03702	0.011000	0.07611	0.296000	0.19083	0.199000	0.20427	0.563000	0.77884	GAA	RAD51AP2	-	NULL		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3	C	NM_001099218		17698314	-1	no_errors	ENST00000399080	ensembl	human	known	70_37	missense	SNP	0.000	T	T	17698314	C	T	17698314	3	4	160	1	0	0	0	0	1	0	0	0	13017	922	32	1	2122	1	RAD51AP2	2	17698314	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	964093	17698314	225501059	234	28507										
SMC6	79677	genome.wustl.edu	37	chr2	17888515	17888515	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaatccacatctctgcttagGaacttaggtcttgtattttc	7	9	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:17888515G>C	ENST00000448223.2	-	18	2246	c.1977C>G	c.(1975-1977)ttC>ttG	p.F659L	SMC6_ENST00000381272.4_Missense_Mutation_p.F685L|SMC6_ENST00000402989.1_Missense_Mutation_p.F659L|SMC6_ENST00000351948.4_Missense_Mutation_p.F659L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	659	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCTGCTTAGGAACTTAGGTC	0.378																																																	0													135	136	136					2																	17888515		2203	4300	6503	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1977C>G	2.37:g.17888515G>C	ENSP00000404092:p.Phe659Leu		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.F685L	ENST00000448223.2	37	c.2055	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619598	0.46736	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.28454	2.71;2.71;2.71;2.71;1.61	6.02	1.11	0.20524	RecF/RecN/SMC (1);	0.324613	0.38111	N	0.001819	T	0.13970	0.0338	N	0.11000	0.08	0.30688	N	0.751604	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.16289	0.013;0.003;0.015	T	0.29027	-1.0025	10	0.12103	T	0.63	.	10.915	0.47131	0.4752:0.0:0.5248:0.0	.	685;685;659	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	L	659;659;685;659;685	ENSP00000404092:F659L;ENSP00000323439:F659L;ENSP00000370672:F685L;ENSP00000384539:F659L;ENSP00000408644:F685L	ENSP00000323439:F659L	F	-	3	2	SMC6	17751996	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	1.203000	0.32284	-0.071000	0.12886	-0.142000	0.14014	TTC	SMC6	-	NULL		0.378	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	G	NM_024624		17888515	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	0.772	C	C	17888515	G	C	17888515	3	2	160	1	0	0	0	0	1	0	0	0	14817	1165	41	1	1342	1	SMC6	2	17888515	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	190201	17888515	225310858	235	28508										
APOB	338	genome.wustl.edu	37	chr2	21225910	21225910	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggctgctttctggaacctCacgtcgatatcatcaatttg	8	11	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:21225910C>T	ENST00000233242.1	-	29	12511	c.12384G>A	c.(12382-12384)gtG>gtA	p.V4128V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4128			V -> M (in dbSNP:rs1801703). {ECO:0000269|PubMed:8889592}.	V -> E (in Ref. 3; AAA35549 and 24; AAA51742). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGAACCTCACGTCGATAT	0.498																																																	0													136	130	132					2																	21225910		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12384G>A	2.37:g.21225910C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V4128	ENST00000233242.1	37	c.12384	CCDS1703.1	2																																																																																			APOB	-	NULL		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21225910	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	0.000	T	T	21225910	C	T	21225910	2	4	160	1	0	0	0	0	0	0	0	1	785	813	29	1		1	APOB	2	21225910	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3337395	21225910	221973463	236	28509										
APOB	338	genome.wustl.edu	37	chr2	21256266	21256266	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttattgaagagattagctctCtggatattttgctcagagat	9	5	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:21256266C>A	ENST00000233242.1	-	9	1156	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	APOB_ENST00000399256.4_Missense_Mutation_p.Q343H	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	343	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTAGCTCTCTGGATATTTT	0.463																																																	0													148	142	144					2																	21256266		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1029G>T	2.37:g.21256266C>A	ENSP00000233242:p.Gln343His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q343H	ENST00000233242.1	37	c.1029	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852213	0.32699	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.68479	-0.33;-0.33	5.53	3.64	0.41730	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.111526	0.40222	N	0.001146	T	0.65698	0.2716	M	0.76574	2.34	0.38594	D	0.950496	B	0.22003	0.063	B	0.29598	0.104	T	0.68629	-0.5358	10	0.56958	D	0.05	.	9.1531	0.36976	0.0:0.7394:0.1225:0.1381	.	343	P04114	APOB_HUMAN	H	343	ENSP00000233242:Q343H;ENSP00000382200:Q343H	ENSP00000233242:Q343H	Q	-	3	2	APOB	21109771	1.000000	0.71417	0.983000	0.44433	0.137000	0.21094	1.682000	0.37628	1.487000	0.48415	0.655000	0.94253	CAG	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21256266	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.992	A	A	21256266	C	A	21256266	3	1	160	1	0	0	0	0	1	0	0	0	785	912	32	3	12746	3	APOB	2	21256266	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	30356	21256266	221943107	237	28510										
GPR113	165082	genome.wustl.edu	37	chr2	26534593	26534593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcccttgtccatagtttGagggcagaaggtggtccagt	13	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:26534593G>A	ENST00000311519.1	-	11	2002	c.2003C>T	c.(2002-2004)tCa>tTa	p.S668L	GPR113_ENST00000333478.6_Missense_Mutation_p.S469L|GPR113_ENST00000541401.1_Missense_Mutation_p.S271L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.S599L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	668					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATAGTTTGAGGGCAGAAG	0.552																																																	0													50	50	50					2																	26534593		2203	4300	6503	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2003C>T	2.37:g.26534593G>A	ENSP00000307831:p.Ser668Leu		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S469L	ENST00000311519.1	37	c.1406	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	G	6.860	0.527961	0.13127	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.84	1.16	0.20824	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.11153	0.0272	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.23249	0.082;0.067;0.082;0.024	B;B;B;B	0.25987	0.065;0.039;0.065;0.022	T	0.33574	-0.9863	9	0.54805	T	0.06	-1.3422	2.546	0.04737	0.1042:0.1501:0.2829:0.4629	.	599;469;668;271	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	L	271;469;599;668	ENSP00000445729:S271L;ENSP00000327396:S469L;ENSP00000388537:S599L;ENSP00000307831:S668L	ENSP00000307831:S668L	S	-	2	0	GPR113	26388097	0.000000	0.05858	0.019000	0.16419	0.275000	0.26752	0.196000	0.17176	0.763000	0.33175	-0.181000	0.13052	TCA	GPR113	-	pfam_DUF3497		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26534593	-1	no_errors	ENST00000333478	ensembl	human	known	70_37	missense	SNP	0.001	A	A	26534593	G	A	26534593	3	1	160	1	0	0	0	0	1	0	0	0	6649	1294	45	1	1337	1	GPR113	2	26534593	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5278327	26534593	216664780	238	28511										
GPR113	165082	genome.wustl.edu	37	chr2	26534708	26534708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgagcctgcagtgggggccGagtagggaaggagatgctgt	19	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:26534708G>A	ENST00000311519.1	-	11	1887	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	GPR113_ENST00000333478.6_Missense_Mutation_p.R431W|GPR113_ENST00000541401.1_Missense_Mutation_p.R233W|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.R561W	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	630					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGGGCCGAGTAGGGAAG	0.552																																																	0													43	39	40					2																	26534708		2203	4300	6503	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1888C>T	2.37:g.26534708G>A	ENSP00000307831:p.Arg630Trp		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R431W	ENST00000311519.1	37	c.1291	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	G	1.298	-0.605609	0.03717	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.69	2.9	0.33743	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.04952	0.0133	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.18310	0.002;0.027;0.002;0.001	B;B;B;B	0.20577	0.009;0.03;0.013;0.001	T	0.38373	-0.9664	9	0.62326	D	0.03	-0.2444	5.8556	0.18718	0.2252:0.1405:0.6343:0.0	.	561;431;630;233	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	W	233;431;561;630	ENSP00000445729:R233W;ENSP00000327396:R431W;ENSP00000388537:R561W;ENSP00000307831:R630W	ENSP00000307831:R630W	R	-	1	2	GPR113	26388212	0.150000	0.22732	0.008000	0.14137	0.002000	0.02628	1.690000	0.37711	0.334000	0.23590	-0.150000	0.13652	CGG	GPR113	-	pfam_DUF3497		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26534708	-1	no_errors	ENST00000333478	ensembl	human	known	70_37	missense	SNP	0.036	A	A	26534708	G	A	26534708	3	1	160	1	0	0	0	0	1	0	0	0	6649	1057	37	1	1452	1	GPR113	2	26534708	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	115	26534708	216664665	239	28512										
DPYSL5	56896	genome.wustl.edu	37	chr2	27150209	27150209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaggacctgtacatgcttcGagacagtgagctgtaccaag	11	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27150209G>A	ENST00000288699.6	+	4	667	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R170Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	170					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACATGCTTCGAGACAGTGAG	0.532																																																	0													130	95	107					2																	27150209		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.509G>A	2.37:g.27150209G>A	ENSP00000288699:p.Arg170Gln		Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R170Q	ENST00000288699.6	37	c.509	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717885	0.68844	.	.	ENSG00000157851	ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	D;D;T;T	0.90004	-2.6;-2.6;-1.03;-1.02	5.63	5.63	0.86233	Amidohydrolase 1 (1);	0.109437	0.64402	D	0.000020	D	0.82829	0.5122	L	0.28400	0.85	0.40901	D	0.984153	P	0.43607	0.812	B	0.36534	0.227	T	0.82404	-0.0474	9	.	.	.	-11.5226	18.8276	0.92124	0.0:0.0:1.0:0.0	.	170	Q9BPU6	DPYL5_HUMAN	Q	170	ENSP00000288699:R170Q;ENSP00000385549:R170Q;ENSP00000399581:R170Q;ENSP00000413075:R170Q	.	R	+	2	0	DPYSL5	27003713	0.999000	0.42202	0.995000	0.50966	0.998000	0.95712	3.661000	0.54503	2.826000	0.97356	0.655000	0.94253	CGA	DPYSL5	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.532	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	G	NM_020134		27150209	1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27150209	G	A	27150209	3	1	160	1	0	0	0	0	1	0	0	0	4760	1058	37	1	519	1	DPYSL5	2	27150209	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	615501	27150209	216049164	240	28513										
DPYSL5	56896	genome.wustl.edu	37	chr2	27169819	27169819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccaaagcgagcttcagctCggatcctcgctcctcccgga	9	16	1	0	rs373724609		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27169819C>T	ENST00000288699.6	+	13	1809	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R551W	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	551					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTCAGCTCGGATCCTCGC	0.607																																																	0													94	74	80					2																	27169819		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1651C>T	2.37:g.27169819C>T	ENSP00000288699:p.Arg551Trp		Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R551W	ENST00000288699.6	37	c.1651	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887408	0.72410	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89552	-2.53;-2.53	5.66	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.88979	2.995	0.45502	D	0.998466	D	0.89917	1.0	D	0.87578	0.998	D	0.95312	0.8413	10	0.87932	D	0	-18.7553	12.8545	0.57878	0.4207:0.5793:0.0:0.0	.	551	Q9BPU6	DPYL5_HUMAN	W	551	ENSP00000288699:R551W;ENSP00000385549:R551W	ENSP00000288699:R551W	R	+	1	2	DPYSL5	27023323	0.424000	0.25490	0.998000	0.56505	0.996000	0.88848	0.689000	0.25437	1.360000	0.45960	0.542000	0.68232	CGG	DPYSL5	-	NULL		0.607	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	C	NM_020134		27169819	1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	0.999	T	T	27169819	C	T	27169819	3	4	160	1	0	0	0	0	1	0	0	0	4760	875	31	1	1697	1	DPYSL5	2	27169819	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19610	27169819	216029554	241	28514										
TCF23	150921	genome.wustl.edu	37	chr2	27375574	27375574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaagtggccgatgcgatctCgtctctatgctggaggcctg	14	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27375574C>T	ENST00000296096.5	+	3	614	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	162					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCGATCTCGTCTCTATGC	0.567																																																	0													89	79	82					2																	27375574		2203	4300	6503	SO:0001583	missense	150921			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.484C>T	2.37:g.27375574C>T	ENSP00000296096:p.Arg162Cys		B2RNZ3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R162C	ENST00000296096.5	37	c.484	CCDS33163.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150387	0.78001	.	.	ENSG00000163792	ENST00000296096	D	0.97959	-4.63	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000003	D	0.98283	0.9431	M	0.67953	2.075	0.43430	D	0.995595	D	0.89917	1.0	D	0.69142	0.962	D	0.99177	1.0866	10	0.72032	D	0.01	-7.4511	16.1947	0.82018	0.0:1.0:0.0:0.0	.	162	Q7RTU1	TCF23_HUMAN	C	162	ENSP00000296096:R162C	ENSP00000296096:R162C	R	+	1	0	TCF23	27229078	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	1.638000	0.37165	2.495000	0.84180	0.655000	0.94253	CGT	TCF23	-	NULL		0.567	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF23	HGNC	protein_coding	OTTHUMT00000324980.1	C	NM_175769		27375574	1	no_errors	ENST00000296096	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27375574	C	T	27375574	3	4	160	1	0	0	0	0	1	0	0	0	15722	884	31	1	494	1	TCF23	2	27375574	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	205755	27375574	215823799	242	28515										
C2orf28	51374	genome.wustl.edu	37	chr2	27435216	27435216	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccgggtcgcgcgagcagcGgagcaccaagggaacggaaa	18	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27435216G>A	ENST00000606999.1	+	0	38				SLC5A6_ENST00000408041.1_5'Flank|ATRAID_ENST00000380171.3_Missense_Mutation_p.G49R|SLC5A6_ENST00000310574.3_5'Flank|ATRAID_ENST00000405489.3_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CGCGAGCAGCGGAGCACCAAG	0.741																																																	0													12	15	14					2																	27435216		1946	3749	5695	SO:0001623	5_prime_UTR_variant	51374			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.-21G>A	2.37:g.27435216G>A			A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	pfscan_EG-like_dom	p.G49R	ENST00000606999.1	37	c.145		2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071797	0.76301	.	.	ENSG00000138085	ENST00000380171	T	0.53857	0.6	5.16	-10.3	0.00346	.	1.231680	0.05983	N	0.644665	T	0.27063	0.0663	N	0.19112	0.55	0.09310	N	0.999996	B	0.11235	0.004	B	0.06405	0.002	T	0.25222	-1.0138	10	0.59425	D	0.04	-0.4852	1.8967	0.03259	0.1712:0.3394:0.273:0.2164	.	49	Q6UW56-3	.	R	49	ENSP00000369518:G49R	ENSP00000369518:G49R	G	+	1	0	C2orf28	27288720	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.326000	0.02685	-2.370000	0.00602	-0.311000	0.09066	GGA	ATRAID	-	NULL		0.741	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	ATRAID	HGNC	protein_coding	OTTHUMT00000470709.1	G	NM_016085		27435216	1	no_errors	ENST00000380171	ensembl	human	known	70_37	missense	SNP	0.000	A	A	27435216	G	A	27435216	1	1	160	0	1	0	0	0	0	0	0	0	2165	1117	39	2		2	C2orf28	2	27435216	5'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	59642	27435216	215764157	243	28516										
FNDC4	64838	genome.wustl.edu	37	chr2	27717491	27717491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggggaaaggggcaccagcGaagccatgtccccacggagt	15	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:27717491G>A	ENST00000264703.3	-	2	447	c.56C>T	c.(55-57)tCg>tTg	p.S19L	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	19						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGGCACCAGCGAAGCCATGTC	0.637																																																	0													22	21	22					2																	27717491		2203	4300	6503	SO:0001583	missense	64838			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"Fibronectin type III domain containing"	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.56C>T	2.37:g.27717491G>A	ENSP00000264703:p.Ser19Leu		D6W560	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S19L	ENST00000264703.3	37	c.56	CCDS1756.1	2	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075247	0.55646	.	.	ENSG00000115226	ENST00000264703	T	0.07114	3.22	5.14	4.25	0.50352	.	0.931621	0.08949	N	0.870377	T	0.04952	0.0133	N	0.03608	-0.345	0.24359	N	0.994883	B	0.19073	0.033	B	0.12156	0.007	T	0.21211	-1.0252	10	0.66056	D	0.02	-35.5252	10.7149	0.46006	0.0934:0.0:0.9066:0.0	.	19	Q9H6D8	FNDC4_HUMAN	L	19	ENSP00000264703:S19L	ENSP00000264703:S19L	S	-	2	0	FNDC4	27570995	0.999000	0.42202	0.991000	0.47740	0.871000	0.50021	3.725000	0.54970	2.395000	0.81488	0.456000	0.33151	TCG	FNDC4	-	NULL		0.637	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC4	HGNC	protein_coding	OTTHUMT00000215031.1	G	NM_022823		27717491	-1	no_errors	ENST00000264703	ensembl	human	known	70_37	missense	SNP	0.991	A	A	27717491	G	A	27717491	3	1	160	1	0	0	0	0	1	0	0	0	5989	1059	37	1	672	1	FNDC4	2	27717491	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	282275	27717491	215481882	244	28517										
WDR43	23160	genome.wustl.edu	37	chr2	29147999	29147999	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtatatggcagttggtttCagcctactattgagcgagtg	12	6	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:29147999C>T	ENST00000407426.3	+	8	1122	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	SNORD53_SNORD92_ENST00000577887.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	356						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CAGTTGGTTTCAGCCTACTAT	0.418																																																	0													104	97	99					2																	29147999		1916	4119	6035	SO:0001587	stop_gained	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1066C>T	2.37:g.29147999C>T	ENSP00000384302:p.Gln356*		Q15395|Q92577	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q356*	ENST00000407426.3	37	c.1066	CCDS46251.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.350170	0.97494	.	.	ENSG00000163811	ENST00000407426;ENST00000296126	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1996	19.5821	0.95471	0.0:1.0:0.0:0.0	.	.	.	.	X	356;175	.	ENSP00000296126:Q175X	Q	+	1	0	WDR43	29001503	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.181000	0.65054	2.708000	0.92522	0.650000	0.86243	CAG	WDR43	-	NULL		0.418	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	C	XM_087089		29147999	1	no_errors	ENST00000407426	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29147999	C	T	29147999	4	4	160	1	0	0	0	0	0	1	0	0	17326	827	29	1	1096	1	WDR43	2	29147999	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1430508	29147999	214051374	245	28518										
ALK	238	genome.wustl.edu	37	chr2	29543716	29543716	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagccacagaagccatcttCaaagttgcagtaaaaaccca	6	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:29543716C>G	ENST00000389048.3	-	7	2353	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'Flank	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	483	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AAGCCATCTTCAAAGTTGCAG	0.522			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													183	166	172					2																	29543716		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1447G>C	2.37:g.29543716C>G	ENSP00000373700:p.Glu483Gln		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E483Q	ENST00000389048.3	37	c.1447	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365861	0.41902	.	.	ENSG00000171094	ENST00000389048	T	0.04156	3.69	5.87	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.48767	D	0.000172	T	0.12646	0.0307	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.13229	-1.0517	9	.	.	.	.	14.5936	0.68389	0.0:0.8545:0.1455:0.0	.	483	Q9UM73	ALK_HUMAN	Q	483	ENSP00000373700:E483Q	.	E	-	1	0	ALK	29397220	0.918000	0.31147	0.053000	0.19242	0.073000	0.16967	2.119000	0.41958	1.585000	0.49928	0.655000	0.94253	GAA	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom		0.522	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	C	NM_004304		29543716	-1	no_errors	ENST00000389048	ensembl	human	known	70_37	missense	SNP	0.422	G	G	29543716	C	G	29543716	3	3	160	1	0	0	0	0	1	0	0	0	525	835	29	1	3507	1	ALK	2	29543716	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	395717	29543716	213655657	246	28519										
LCLAT1	253558	genome.wustl.edu	37	chr2	30748456	30748456	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttttatatctttcagaatCatggtgtcatggaaagggat	9	4	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:30748456C>T	ENST00000309052.4	+	3	323	c.114C>T	c.(112-114)atC>atT	p.I38I	LCLAT1_ENST00000319406.4_Silent_p.I38I|LCLAT1_ENST00000379509.3_5'UTR|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000359433.1_Silent_p.I38I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	38					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CTTTCAGAATCATGGTGTCAT	0.333																																																	0													124	123	123					2																	30748456		2203	4300	6503	SO:0001819	synonymous_variant	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.114C>T	2.37:g.30748456C>T			A6H8Z7|Q8N1Q7	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.I38	ENST00000309052.4	37	c.114	CCDS1772.1	2																																																																																			LCLAT1	-	NULL		0.333	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	C	NM_182551		30748456	1	no_errors	ENST00000309052	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30748456	C	T	30748456	2	4	160	1	0	0	0	0	0	0	0	1	8697	816	29	1		1	LCLAT1	2	30748456	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1204740	30748456	212450917	247	28520										
BIRC6	57448	genome.wustl.edu	37	chr2	32605237	32605237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttaggcacagcagctcttatCagcatgtttagaaaaggtag	10	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:32605237C>T	ENST00000421745.2	+	3	658	c.524C>T	c.(523-525)tCa>tTa	p.S175L	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	175					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGCTCTTATCAGCATGTTTA	0.299																																					Pancreas(94;175 1509 16028 18060 45422)												0													31	29	30					2																	32605237		2200	4295	6495	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.524C>T	2.37:g.32605237C>T	ENSP00000393596:p.Ser175Leu		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S175L	ENST00000421745.2	37	c.524	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743890	0.30865	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.63117	0.2484	N	0.25647	0.755	0.50813	D	0.999897	B	0.34103	0.437	B	0.27608	0.081	T	0.64698	-0.6346	10	0.44086	T	0.13	.	18.5584	0.91092	0.0:1.0:0.0:0.0	.	175	Q9NR09	BIRC6_HUMAN	L	175	ENSP00000393596:S175L	ENSP00000393596:S175L	S	+	2	0	BIRC6	32458741	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.774000	0.55341	2.363000	0.80096	0.563000	0.77884	TCA	BIRC6	-	superfamily_WD40_repeat_dom		0.299	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32605237	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32605237	C	T	32605237	3	4	160	1	0	0	0	0	1	0	0	0	1439	838	29	1	534	1	BIRC6	2	32605237	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1856781	32605237	210594136	248	28521										
BIRC6	57448	genome.wustl.edu	37	chr2	32605301	32605301	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatttgttcatcacacagctCaaagatggtttaaaaaatac	6	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:32605301C>G	ENST00000421745.2	+	3	722	c.588C>G	c.(586-588)ctC>ctG	p.L196L	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	196					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCACACAGCTCAAAGATGGTT	0.328																																					Pancreas(94;175 1509 16028 18060 45422)												0													53	52	52					2																	32605301		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.588C>G	2.37:g.32605301C>G			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L196	ENST00000421745.2	37	c.588	CCDS33175.2	2																																																																																			BIRC6	-	superfamily_WD40_repeat_dom		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32605301	1	no_errors	ENST00000421745	ensembl	human	known	70_37	silent	SNP	0.995	G	G	32605301	C	G	32605301	2	3	160	1	0	0	0	0	0	0	0	1	1439	813	29	1		1	BIRC6	2	32605301	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	64	32605301	210594072	249	28522										
LTBP1	4052	genome.wustl.edu	37	chr2	33534509	33534509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attggtttttagatatcaatGaatgcttggaggacaagagt	11	3	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:33534509G>A	ENST00000404816.2	+	23	3843	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	LTBP1_ENST00000418533.2_Missense_Mutation_p.E838K|LTBP1_ENST00000272273.5_Missense_Mutation_p.E104K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E785K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E785K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E839K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E838K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1165K|LTBP1_ENST00000498013.1_3'UTR			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1164	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATATCAATGAATGCTTGGA	0.338																																																	0													100	94	96					2																	33534509		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3490G>A	2.37:g.33534509G>A	ENSP00000386043:p.Glu1164Lys		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1165K	ENST00000404816.2	37	c.3493	CCDS33177.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.056992|4.056992	0.76074|0.76074	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669|ENST00000415140	D;D;D;D;D;D;D;D;D|.	0.98849|.	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18|.	5.64|5.64	5.64|5.64	0.86602|0.86602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	D|D	0.88876|0.88876	0.6556|0.6556	H|H	0.97587|0.97587	4.035|4.035	0.50813|0.50813	D|D	0.999894|0.999894	D;D;D;D;D;D;D|.	0.89917|.	0.995;1.0;0.998;1.0;0.999;0.999;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.986;0.999;0.993;1.0;0.997;0.997;0.999|.	D|D	0.92453|0.92453	0.5971|0.5971	9|5	0.72032|.	D|.	0.01|.	.|.	18.4768|18.4768	0.90795|0.90795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	104;1164;838;785;838;839;1165|.	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;LTBP1_HUMAN;.;.;.;.;.|.	K|I	1164;1165;839;838;785;785;838;104;42|125	ENSP00000386043:E1164K;ENSP00000346467:E1165K;ENSP00000374653:E839K;ENSP00000393057:E838K;ENSP00000384373:E785K;ENSP00000385359:E785K;ENSP00000384091:E838K;ENSP00000272273:E104K;ENSP00000395211:E42K|.	ENSP00000272273:E104K|.	E|M	+|+	1|3	0|0	LTBP1|LTBP1	33388013|33388013	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.369000|0.369000	0.29798|0.29798	7.382000|7.382000	0.79729|0.79729	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GAA|ATG	LTBP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.338	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	G	NM_206943		33534509	1	no_errors	ENST00000354476	ensembl	human	known	70_37	missense	SNP	0.992	A	A	33534509	G	A	33534509	3	1	160	1	0	0	0	0	1	0	0	0	9096	1291	45	1	3635	1	LTBP1	2	33534509	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	929208	33534509	209664864	250	28523										
FBXO11	80204	genome.wustl.edu	37	chr2	48050303	48050303	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttattgttgggtcactatttGaggtaatccatacacctgca	8	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:48050303G>C	ENST00000403359.3	-	12	1667	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	FBXO11_ENST00000402508.1_Nonsense_Mutation_p.S448*|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000316377.4_Nonsense_Mutation_p.S448*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	532					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTCACTATTTGAGGTAATCCA	0.333			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											108	101	103					2																	48050303		2202	4299	6501	SO:0001587	stop_gained	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1595C>G	2.37:g.48050303G>C	ENSP00000384823:p.Ser532*		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.S532*	ENST00000403359.3	37	c.1595	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.323139	0.98210	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.0084	19.7417	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	448;532;448	.	ENSP00000323822:S448X	S	-	2	0	FBXO11	47903807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.665000	0.90641	0.650000	0.86243	TCA	FBXO11	-	superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	G	NM_012167, NM_018693, NM_025133		48050303	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	48050303	G	C	48050303	4	2	160	1	0	0	0	0	0	1	0	0	5745	1294	45	1	1326	1	FBXO11	2	48050303	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	14515794	48050303	195149070	251	28524										
SPTBN1	6711	genome.wustl.edu	37	chr2	54858188	54858188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcgcaagctgaccggcatgGagcgggacttggtggccatt	16	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:54858188G>A	ENST00000356805.4	+	16	3285	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E989K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1002					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACCGGCATGGAGCGGGACTT	0.627																																																	0													57	64	62					2																	54858188		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3004G>A	2.37:g.54858188G>A	ENSP00000349259:p.Glu1002Lys		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1002K	ENST00000356805.4	37	c.3004	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.334279	0.95758	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.55588	0.51;0.51	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	M	0.88105	2.93	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75020	0.975;0.985	T	0.82600	-0.0377	10	0.87932	D	0	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	989;1002	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1002;989	ENSP00000349259:E1002K;ENSP00000334156:E989K	ENSP00000334156:E989K	E	+	1	0	SPTBN1	54711692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.479000	0.83701	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54858188	1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54858188	G	A	54858188	3	1	160	1	0	0	0	0	1	0	0	0	15149	1175	41	1	3175	1	SPTBN1	2	54858188	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6807885	54858188	188341185	252	28525										
AFTPH	54812	genome.wustl.edu	37	chr2	64779560	64779560	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgttgaaaaacaaggccttCcaacactgcaacaggatgaa	9	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:64779560C>G	ENST00000422803.1	+	2	1266	c.952C>G	c.(952-954)Cca>Gca	p.P318A	AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_Missense_Mutation_p.P318A|AFTPH_ENST00000238855.7_Missense_Mutation_p.P318A|AFTPH_ENST00000409933.1_Missense_Mutation_p.P318A			Q6ULP2	AFTIN_HUMAN	aftiphilin	318					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACAAGGCCTTCCAACACTGCA	0.413																																																	0													89	93	91					2																	64779560		2203	4300	6503	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.952C>G	2.37:g.64779560C>G	ENSP00000397726:p.Pro318Ala		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.P318A	ENST00000422803.1	37	c.952		2	.	.	.	.	.	.	.	.	.	.	C	0.252	-1.006094	0.02112	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.77	-1.79	0.07932	.	1.156670	0.06107	N	0.666435	T	0.12008	0.0292	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.19706	0.001;0.001;0.038;0.038	B;B;B;B	0.21708	0.0;0.0;0.022;0.036	T	0.34700	-0.9818	10	0.24483	T	0.36	6.1471	1.7514	0.02973	0.3195:0.1397:0.3688:0.1719	.	318;318;318;318	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	A	318	ENSP00000238856:P318A;ENSP00000397726:P318A;ENSP00000238855:P318A;ENSP00000387071:P318A	ENSP00000238855:P318A	P	+	1	0	AFTPH	64633064	0.035000	0.19736	0.000000	0.03702	0.764000	0.43329	-0.038000	0.12144	-0.148000	0.11234	-1.078000	0.02229	CCA	AFTPH	-	NULL		0.413	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		C	NM_017657		64779560	1	no_errors	ENST00000422803	ensembl	human	known	70_37	missense	SNP	0.001	G	G	64779560	C	G	64779560	3	3	160	1	0	0	0	0	1	0	0	0	364	855	30	1	954	1	AFTPH	2	64779560	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9921372	64779560	178419813	253	28526										
CEP68	23177	genome.wustl.edu	37	chr2	65299104	65299104	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacccgaccgccactcccctCtctggaacccaaataaagag	6	18	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:65299104C>G	ENST00000377990.2	+	3	1077	c.874C>G	c.(874-876)Ctc>Gtc	p.L292V	CEP68_ENST00000546106.1_Missense_Mutation_p.L292V|CEP68_ENST00000260569.4_Missense_Mutation_p.L292V|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	292					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCACTCCCCTCTCTGGAACCC	0.582																																																	0													75	86	82					2																	65299104		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.874C>G	2.37:g.65299104C>G	ENSP00000367229:p.Leu292Val		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	NULL	p.L292V	ENST00000377990.2	37	c.874	CCDS1880.2	2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432319	0.62844	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15834	2.41;2.4;2.39	5.12	5.12	0.69794	.	0.430671	0.25433	N	0.030719	T	0.41834	0.1176	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;P;D;D	0.71414	0.957;0.957;0.895;0.957;0.973	T	0.06972	-1.0797	10	0.33141	T	0.24	-19.8027	18.7499	0.91810	0.0:1.0:0.0:0.0	.	280;292;292;292;292	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	V	292;292;292;280	ENSP00000367229:L292V;ENSP00000438306:L292V;ENSP00000260569:L292V	ENSP00000260569:L292V	L	+	1	0	CEP68	65152608	0.836000	0.29430	0.956000	0.39512	0.809000	0.45718	1.533000	0.36040	2.662000	0.90505	0.484000	0.47621	CTC	CEP68	-	NULL		0.582	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	C	NM_015147		65299104	1	no_errors	ENST00000377990	ensembl	human	known	70_37	missense	SNP	0.964	G	G	65299104	C	G	65299104	3	3	160	1	0	0	0	0	1	0	0	0	3263	913	32	1	880	1	CEP68	2	65299104	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	519544	65299104	177900269	254	28527										
CEP68	23177	genome.wustl.edu	37	chr2	65305035	65305035	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atatagatgaacatcagtctCtgacggagagtgtcttacag	10	7	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:65305035C>G	ENST00000377990.2	+	5	2244	c.2041C>G	c.(2041-2043)Ctg>Gtg	p.L681V	CEP68_ENST00000546106.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.L544V|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	681					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACATCAGTCTCTGACGGAGAG	0.398																																																	0													89	90	90					2																	65305035		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2041C>G	2.37:g.65305035C>G	ENSP00000367229:p.Leu681Val		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	NULL	p.L681V	ENST00000377990.2	37	c.2041	CCDS1880.2	2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303960	0.60305	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.51325	0.71;0.71	5.86	3.11	0.35812	.	0.000000	0.64402	D	0.000020	T	0.63094	0.2482	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61681	-0.7013	10	0.62326	D	0.03	-11.2658	9.7407	0.40416	0.0:0.7987:0.0:0.2013	.	681;544	Q76N32;Q76N32-2	CEP68_HUMAN;.	V	681;544	ENSP00000367229:L681V;ENSP00000260569:L544V	ENSP00000260569:L544V	L	+	1	2	CEP68	65158539	0.918000	0.31147	0.998000	0.56505	0.735000	0.41995	1.028000	0.30128	0.394000	0.25230	0.563000	0.77884	CTG	CEP68	-	NULL		0.398	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	C	NM_015147		65305035	1	no_errors	ENST00000377990	ensembl	human	known	70_37	missense	SNP	0.999	G	G	65305035	C	G	65305035	3	3	160	1	0	0	0	0	1	0	0	0	3263	912	32	1	2055	1	CEP68	2	65305035	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5931	65305035	177894338	255	28528										
BMP10	27302	genome.wustl.edu	37	chr2	69093120	69093120	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggcagtggagtcatagatGatgtttgatctcatctgcaa	12	7	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:69093120G>A	ENST00000295379.1	-	2	1076	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	306					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGTCATAGATGATGTTTGATC	0.502																																																	0													104	98	100					2																	69093120		2203	4300	6503	SO:0001819	synonymous_variant	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.918C>T	2.37:g.69093120G>A			Q53R17|Q6NTE0	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.I306	ENST00000295379.1	37	c.918	CCDS1890.1	2																																																																																			BMP10	-	NULL		0.502	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	HGNC	protein_coding	OTTHUMT00000251768.1	G	NM_014482		69093120	-1	no_errors	ENST00000295379	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69093120	G	A	69093120	2	1	160	1	0	0	0	0	0	0	0	1	1458	1280	45	1		1	BMP10	2	69093120	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3788085	69093120	174106253	256	28529										
ADD2	119	genome.wustl.edu	37	chr2	70904899	70904899	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accccacttaccttgttcctCatctccagtacttcctgggg	6	16	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:70904899C>A	ENST00000264436.4	-	12	1938	c.1494G>T	c.(1492-1494)atG>atT	p.M498I	ADD2_ENST00000413157.2_Missense_Mutation_p.M498I|ADD2_ENST00000355733.3_Missense_Mutation_p.M498I|ADD2_ENST00000430656.1_Missense_Mutation_p.M514I|ADD2_ENST00000407644.2_Missense_Mutation_p.M498I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	498					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTGTTCCTCATCTCCAGTA	0.527																																																	0													122	101	108					2																	70904899		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1494G>T	2.37:g.70904899C>A	ENSP00000264436:p.Met498Ile		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.M498I	ENST00000264436.4	37	c.1494	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534661	0.13188	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.4	5.4	0.78164	.	0.043635	0.85682	D	0.000000	T	0.12092	0.0294	N	0.11756	0.17	0.28015	N	0.934758	B;B;B;B;B;B	0.33883	0.243;0.021;0.144;0.243;0.012;0.43	B;B;B;B;B;B	0.32762	0.065;0.01;0.062;0.09;0.008;0.152	T	0.11275	-1.0594	10	0.59425	D	0.04	-32.7919	9.9722	0.41761	0.0:0.9108:0.0:0.0892	.	514;498;192;498;498;498	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	I	498;498;498;192;498;192;498;514	ENSP00000264436:M498I;ENSP00000384677:M498I;ENSP00000347972:M498I;ENSP00000430243:M192I;ENSP00000388072:M498I;ENSP00000398112:M514I	ENSP00000264436:M498I	M	-	3	0	ADD2	70758407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.547000	0.36190	2.809000	0.96659	0.655000	0.94253	ATG	ADD2	-	NULL		0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	C	NM_001617		70904899	-1	no_errors	ENST00000264436	ensembl	human	known	70_37	missense	SNP	0.999	A	A	70904899	C	A	70904899	3	1	160	1	0	0	0	0	1	0	0	0	305	826	29	3	883	3	ADD2	2	70904899	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1811779	70904899	172294474	257	28530										
MTHFD2	10797	genome.wustl.edu	37	chr2	74425838	74425838	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgcgcacagctgctcccttCgccttcgccctttccacctc	6	22	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:74425838C>G	ENST00000394053.2	+	1	150	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G	MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R24G|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R24G|MTHFD2_ENST00000264090.4_5'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	24					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CTGCTCCCTTCGCCTTCGCCC	0.677																																																	0													18	22	21					2																	74425838		1986	4154	6140	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.70C>G	2.37:g.74425838C>G	ENSP00000377617:p.Arg24Gly		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.R24G	ENST00000394053.2	37	c.70	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	C	3.100	-0.185038	0.06340	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.45276	1.91;0.9;1.9	4.58	1.77	0.24775	.	0.832555	0.11168	N	0.592284	T	0.22085	0.0532	N	0.19112	0.55	0.20489	N	0.999891	B;B	0.34313	0.448;0.057	B;B	0.30105	0.111;0.026	T	0.13522	-1.0506	10	0.25751	T	0.34	.	4.6234	0.12467	0.0:0.6222:0.1819:0.1959	.	24;24	B8ZZU9;P13995	.;MTDC_HUMAN	G	24	ENSP00000377617:R24G;ENSP00000386536:R24G;ENSP00000386542:R24G	ENSP00000377617:R24G	R	+	1	0	MTHFD2	74279346	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.371000	0.20450	0.404000	0.25506	0.591000	0.81541	CGC	MTHFD2	-	NULL		0.677	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	C			74425838	1	no_errors	ENST00000394053	ensembl	human	known	70_37	missense	SNP	0.000	G	G	74425838	C	G	74425838	3	3	160	1	0	0	0	0	1	0	0	0	9952	884	31	1	72	1	MTHFD2	2	74425838	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3520939	74425838	168773535	258	28531										
WDR54	84058	genome.wustl.edu	37	chr2	74652559	74652559	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacagctactctctgcaggtGaggacacctttgtgcatatc	9	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:74652559G>T	ENST00000348227.4	+	9	902	c.814G>T	c.(814-816)Gag>Tag	p.E272*	WDR54_ENST00000409791.1_Nonsense_Mutation_p.E220*|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	272										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTCTGCAGGTGAGGACACCTT	0.577																																																	0													72	74	73					2																	74652559		2203	4300	6503	SO:0001587	stop_gained	84058			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.814G>T	2.37:g.74652559G>T	ENSP00000006526:p.Glu272*		D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E272*	ENST00000348227.4	37	c.814	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134583	0.77662	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-19.074	15.4466	0.75235	0.0:0.0:1.0:0.0	.	.	.	.	X	220;272	.	ENSP00000006526:E272X	E	+	1	0	WDR54	74506067	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	6.420000	0.73349	2.642000	0.89623	0.561000	0.74099	GAG	WDR54	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.577	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	G	NM_032118		74652559	1	no_errors	ENST00000348227	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74652559	G	T	74652559	4	4	160	1	0	0	0	0	0	1	0	0	17337	1291	45	3	844	3	WDR54	2	74652559	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	226721	74652559	168546814	259	28532										
SEMA4F	10505	genome.wustl.edu	37	chr2	74902651	74902651	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttcctttcctgtcccctaGaggatggacacctccaccga	8	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:74902651G>C	ENST00000357877.2	+	11	1521		c.e11-1		SEMA4F_ENST00000339773.5_Splice_Site|SEMA4F_ENST00000473350.1_Splice_Site	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGTCCCCTAGAGGATGGACA	0.498																																																	0													107	102	104					2																	74902651		2203	4300	6503	SO:0001630	splice_region_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1373-1G>C	2.37:g.74902651G>C			Q542Y7|Q9NS35	Splice_Site	SNP	-	e11-1	ENST00000357877.2	37	c.1373-1	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845870	0.32606	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.666	0.77230	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4F	74756159	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	8.379000	0.90146	2.555000	0.86185	0.467000	0.42956	.	SEMA4F	-	-		0.498	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	G	NM_004263	Intron	74902651	1	no_errors	ENST00000357877	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	74902651	G	C	74902651	5	2	160	1	0	0	0	0	0	0	1	0	14065	956	33	1	1414	1	SEMA4F	2	74902651	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	250092	74902651	168296722	260	28533										
DNAH6	1768	genome.wustl.edu	37	chr2	84848475	84848475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtggttgctggccacccttCtcaagtaactcacactcaca	8	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:84848475C>G	ENST00000237449.6	+	24	3961	c.3953C>G	c.(3952-3954)tCt>tGt	p.S1318C	DNAH6_ENST00000389394.3_Missense_Mutation_p.S1318C|DNAH6_ENST00000398278.2_Missense_Mutation_p.S1318C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1318	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGCCACCCTTCTCAAGTAACT	0.453																																																	0													67	60	62					2																	84848475		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.3953C>G	2.37:g.84848475C>G	ENSP00000237449:p.Ser1318Cys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S1318C	ENST00000237449.6	37	c.3953	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133969	0.77662	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.60424	0.19;0.19;0.19	5.02	5.02	0.67125	.	.	.	.	.	T	0.72011	0.3408	M	0.64567	1.98	0.45690	D	0.998602	D	0.71674	0.998	D	0.63192	0.912	T	0.75516	-0.3290	9	0.72032	D	0.01	.	17.109	0.86670	0.0:1.0:0.0:0.0	.	1318	Q9C0G6	DYH6_HUMAN	C	1318	ENSP00000374045:S1318C;ENSP00000381326:S1318C;ENSP00000237449:S1318C	ENSP00000237449:S1318C	S	+	2	0	DNAH6	84701986	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.485000	0.73625	2.326000	0.78906	0.563000	0.77884	TCT	DNAH6	-	NULL		0.453	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	C	NM_001370		84848475	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84848475	C	G	84848475	3	3	160	1	0	0	0	0	1	0	0	0	4615	913	32	1	4047	1	DNAH6	2	84848475	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9945824	84848475	158350898	261	28534										
C2orf68	388969	genome.wustl.edu	37	chr2	85838864	85838864	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgggcgtgtgccgcctcctCaccttctccttggccgcctg	12	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:85838864C>G	ENST00000306336.5	-	2	197	c.153G>C	c.(151-153)gtG>gtC	p.V51V	USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'UTR|C2orf68_ENST00000409734.3_Silent_p.V51V	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	51										breast(1)|central_nervous_system(1)|endometrium(1)	3						GCCGCCTCCTCACCTTCTCCT	0.731																																																	0													13	17	16					2																	85838864		1955	4111	6066	SO:0001819	synonymous_variant	388969				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.153G>C	2.37:g.85838864C>G			B4DT10|Q4G0J7|Q6ZVA6	Silent	SNP	pfam_UPF0561	p.V51	ENST00000306336.5	37	c.153	CCDS42704.1	2																																																																																			C2orf68	-	pfam_UPF0561		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	C	NM_001013649		85838864	-1	no_errors	ENST00000306336	ensembl	human	known	70_37	silent	SNP	0.991	G	G	85838864	C	G	85838864	2	3	160	1	0	0	0	0	0	0	0	1	2192	813	29	1		1	C2orf68	2	85838864	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	990389	85838864	157360509	262	28535										
KDM3A	55818	genome.wustl.edu	37	chr2	86697389	86697389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaagctgcaacagagtggcGaggccttcgtacaggatgat	13	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:86697389G>A	ENST00000409556.1	+	12	1947	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	KDM3A_ENST00000409064.1_Missense_Mutation_p.E528K|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.E476K|KDM3A_ENST00000312912.5_Missense_Mutation_p.E528K			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	528					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E528K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACAGAGTGGCGAGGCCTTCGT	0.488																																					NSCLC(96;1150 1523 6936 46253 49736)												1	Substitution - Missense(1)	large_intestine(1)											120	108	112					2																	86697389		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1582G>A	2.37:g.86697389G>A	ENSP00000386660:p.Glu528Lys		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E528K	ENST00000409556.1	37	c.1582	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.819130	0.96982	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.86	5.86	0.93980	.	0.068400	0.64402	D	0.000012	T	0.68403	0.2997	M	0.75777	2.31	0.58432	D	0.999996	D;D	0.65815	0.994;0.995	P;P	0.61874	0.895;0.838	T	0.69472	-0.5136	10	0.62326	D	0.03	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	476;528	F5H070;Q9Y4C1	.;KDM3A_HUMAN	K	528;528;528;528;476	ENSP00000386660:E528K;ENSP00000323659:E528K;ENSP00000386516:E528K;ENSP00000438324:E476K	ENSP00000323659:E528K	E	+	1	0	KDM3A	86550900	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	9.845000	0.99498	2.778000	0.95560	0.655000	0.94253	GAG	KDM3A	-	NULL		0.488	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	G	NM_018433		86697389	1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86697389	G	A	86697389	3	1	160	1	0	0	0	0	1	0	0	0	8146	1059	37	1	1620	1	KDM3A	2	86697389	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	858525	86697389	156501984	263	28536										
RNF103	7844	genome.wustl.edu	37	chr2	86831217	86831217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaccaatcaggttccatatCttcattagtgttatatgatc	5	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:86831217C>G	ENST00000237455.4	-	4	2775	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	603					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGTTCCATATCTTCATTAGTG	0.413																																																	0													258	244	249					2																	86831217		2203	4300	6503	SO:0001583	missense	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1807G>C	2.37:g.86831217C>G	ENSP00000237455:p.Asp603His		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.D603H	ENST00000237455.4	37	c.1807	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058081	0.07317	.	.	ENSG00000239305	ENST00000237455	T	0.46451	0.87	5.44	5.44	0.79542	.	0.123265	0.64402	D	0.000014	T	0.41305	0.1153	L	0.39898	1.24	0.43036	D	0.994619	P	0.45902	0.868	B	0.43052	0.406	T	0.20371	-1.0277	10	0.35671	T	0.21	-12.1081	19.268	0.93997	0.0:1.0:0.0:0.0	.	603	O00237	RN103_HUMAN	H	603	ENSP00000237455:D603H	ENSP00000237455:D603H	D	-	1	0	RNF103	86684728	0.999000	0.42202	0.989000	0.46669	0.148000	0.21650	2.303000	0.43646	2.551000	0.86045	0.404000	0.27445	GAT	RNF103	-	NULL		0.413	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	C	NM_005667		86831217	-1	no_errors	ENST00000237455	ensembl	human	known	70_37	missense	SNP	0.980	G	G	86831217	C	G	86831217	3	3	160	1	0	0	0	0	1	0	0	0	13453	913	32	1	254	1	RNF103	2	86831217	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133828	86831217	156368156	264	28537										
TMEM127	55654	genome.wustl.edu	37	chr2	96920718	96920718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgcaggagcagcactgtctGgggattcatgcagaaatctg	13	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:96920718G>C	ENST00000258439.3	-	3	518	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	TMEM127_ENST00000435268.1_Missense_Mutation_p.Q4E|TMEM127_ENST00000432959.1_Missense_Mutation_p.Q88E	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	88					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGCACTGTCTGGGGATTCATG	0.537																																																	0													61	63	62					2																	96920718		2203	4300	6503	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.262C>G	2.37:g.96920718G>C	ENSP00000258439:p.Gln88Glu		D3DXH0	Missense_Mutation	SNP	NULL	p.Q88E	ENST00000258439.3	37	c.262	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762121	0.49468	.	.	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	T;T;T	0.81247	-1.47;-1.47;-1.47	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	N	0.24115	0.695	0.80722	D	1	P	0.43578	0.811	P	0.54924	0.764	T	0.79914	-0.1602	10	0.38643	T	0.18	-21.2063	19.0678	0.93119	0.0:0.0:1.0:0.0	.	88	O75204	TM127_HUMAN	E	88;88;4	ENSP00000258439:Q88E;ENSP00000416660:Q88E;ENSP00000411810:Q4E	ENSP00000258439:Q88E	Q	-	1	0	TMEM127	96284445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.813000	0.96785	0.655000	0.94253	CAG	TMEM127	-	NULL		0.537	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM127	HGNC	protein_coding	OTTHUMT00000252845.3	G	NM_017849		96920718	-1	no_errors	ENST00000258439	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96920718	G	C	96920718	3	2	160	1	0	0	0	0	1	0	0	0	16070	1357	47	4	462	4	TMEM127	2	96920718	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10089501	96920718	146278655	265	28538										
ACTR1B	10120	genome.wustl.edu	37	chr2	98275838	98275838	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctccgagaaggtctgcagctGatccttggagtagacgtact	12	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:98275838G>A	ENST00000289228.5	-	4	508	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GTCTGCAGCTGATCCTTGGAG	0.652																																																	0													182	148	159					2																	98275838		2203	4300	6503	SO:0001587	stop_gained	10120			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.292C>T	2.37:g.98275838G>A	ENSP00000289228:p.Gln98*		D3DVH2|Q53SK5|Q9BRB7	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Q98*	ENST00000289228.5	37	c.292	CCDS2033.1	2	.	.	.	.	.	.	.	.	.	.	.	18.71	3.682879	0.68157	.	.	ENSG00000115073	ENST00000289228	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1821	0.81915	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000289228:Q98X	Q	-	1	0	ACTR1B	97642270	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	9.839000	0.99476	2.427000	0.82271	0.555000	0.69702	CAG	ACTR1B	-	pfam_Actin-like,smart_Actin-like		0.652	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1B	HGNC	protein_coding	OTTHUMT00000252973.1	G	NM_005735		98275838	-1	no_errors	ENST00000289228	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	98275838	G	A	98275838	4	1	160	1	0	0	0	0	0	1	0	0	210	1299	45	1	870	1	ACTR1B	2	98275838	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1355120	98275838	144923535	266	28539										
EIF5B	9669	genome.wustl.edu	37	chr2	100013320	100013320	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtgacggtggaagcaggtCaggtgaaacaggggacaccc	18	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:100013320C>T	ENST00000289371.6	+	22	3554	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1118					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGCAGGTCAGGTGAAACA	0.443																																					Colon(162;2388 2567 2705 3444)												0													99	101	101					2																	100013320		1898	4115	6013	SO:0001587	stop_gained	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3352C>T	2.37:g.100013320C>T	ENSP00000289371:p.Gln1118*		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q1118*	ENST00000289371.6	37	c.3352	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.472253	0.99411	.	.	ENSG00000158417	ENST00000289371	.	.	.	5.91	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.4355	15.1485	0.72677	0.0:0.9325:0.0:0.0675	.	.	.	.	X	1118	.	.	Q	+	1	0	EIF5B	99379752	1.000000	0.71417	0.946000	0.38457	0.989000	0.77384	4.012000	0.57131	1.525000	0.49052	0.655000	0.94253	CAG	EIF5B	-	superfamily_Transl_elong_init/rib_B-barrel		0.443	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	C	NM_015904		100013320	1	no_errors	ENST00000289371	ensembl	human	known	70_37	nonsense	SNP	0.994	T	T	100013320	C	T	100013320	4	4	160	1	0	0	0	0	0	1	0	0	5056	827	29	1	3438	1	EIF5B	2	100013320	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1737482	100013320	143186053	267	28540										
MAP4K4	9448	genome.wustl.edu	37	chr2	102503688	102503688	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatcagtctatgacatttatCtaccaacacatgtaagaaag	6	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:102503688C>G	ENST00000347699.4	+	27	3325	c.3325C>G	c.(3325-3327)Cta>Gta	p.L1109V	MAP4K4_ENST00000302217.5_Missense_Mutation_p.L912V|MAP4K4_ENST00000413150.2_Missense_Mutation_p.L1024V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L908V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1149V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1190V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1142V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L1028V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1109	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGACATTTATCTACCAACACA	0.413																																																	0													126	120	122					2																	102503688		1931	4145	6076	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3325C>G	2.37:g.102503688C>G	ENSP00000314363:p.Leu1109Val		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L1190V	ENST00000347699.4	37	c.3568	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.101790|3.101790	0.56183|0.56183	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.04758|.	3.56;3.56;3.56;3.56;3.56;3.56;3.56;3.56;3.56|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Citron-like (3);|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.59609|0.59609	0.2206|0.2206	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	P;P;P;D;P;B;B;P;P;B|.	0.89917|.	0.877;0.779;0.587;1.0;0.738;0.394;0.329;0.738;0.532;0.324|.	B;B;P;D;B;B;B;B;B;B|.	0.85130|.	0.429;0.211;0.45;0.997;0.134;0.444;0.127;0.134;0.413;0.171|.	T|T	0.56974|0.56974	-0.7890|-0.7890	10|5	0.37606|.	T|.	0.19|.	.|.	11.9009|11.9009	0.52682|0.52682	0.0:0.9197:0.0:0.0803|0.0:0.9197:0.0:0.0803	.|.	1149;1105;908;912;1027;1109;1142;1028;1081;1190|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	V|C	1142;1190;1028;912;1024;908;1109;1040;1149|925	ENSP00000392830:L1142V;ENSP00000313644:L1190V;ENSP00000281111:L1028V;ENSP00000303600:L912V;ENSP00000389752:L1024V;ENSP00000387370:L908V;ENSP00000314363:L1109V;ENSP00000409720:L1040V;ENSP00000343658:L1149V|.	ENSP00000303600:L912V|.	L|S	+|+	1|2	2|0	MAP4K4|MAP4K4	101870120|101870120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.952000|3.952000	0.56691|0.56691	2.352000|2.352000	0.79861|0.79861	0.557000|0.557000	0.71058|0.71058	CTA|TCT	MAP4K4	-	pfam_Citron,smart_Citron		0.413	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	C	NM_004834		102503688	1	no_errors	ENST00000324219	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102503688	C	G	102503688	3	3	160	1	0	0	0	0	1	0	0	0	9285	912	32	1	3682	1	MAP4K4	2	102503688	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2490368	102503688	140695685	268	28541										
IL18R1	8809	genome.wustl.edu	37	chr2	103003430	103003430	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggccagcacgggaggcacaGacaccaaaagcttcatcttg	11	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:103003430G>A	ENST00000409599.1	+	9	1275	c.919G>A	c.(919-921)Gac>Aac	p.D307N	IL18R1_ENST00000233957.1_Missense_Mutation_p.D307N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	307	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGGAGGCACAGACACCAAAAG	0.373																																																	0													104	108	107					2																	103003430		2203	4300	6503	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.919G>A	2.37:g.103003430G>A	ENSP00000387211:p.Asp307Asn		B2R9Y5|Q52LC9	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.D307N	ENST00000409599.1	37	c.919	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011173	0.54361	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.14516	2.5;2.5;2.5	4.66	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.646348	0.15066	N	0.282512	T	0.15219	0.0367	M	0.68952	2.095	0.24037	N	0.996094	P;P	0.48764	0.915;0.915	B;B	0.40864	0.342;0.342	T	0.12553	-1.0543	10	0.19590	T	0.45	.	10.5767	0.45231	0.0:0.1956:0.8044:0.0	.	307;307	B7ZKV7;Q13478	.;IL18R_HUMAN	N	307	ENSP00000386663:D307N;ENSP00000387211:D307N;ENSP00000233957:D307N	ENSP00000233957:D307N	D	+	1	0	IL18R1	102369862	0.094000	0.21725	0.007000	0.13788	0.603000	0.37013	1.922000	0.40045	1.267000	0.44247	0.561000	0.74099	GAC	IL18R1	-	smart_Ig_sub,pfscan_Ig-like		0.373	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	HGNC	protein_coding	OTTHUMT00000253294.2	G	NM_003855		103003430	1	no_errors	ENST00000233957	ensembl	human	known	70_37	missense	SNP	0.012	A	A	103003430	G	A	103003430	3	1	160	1	0	0	0	0	1	0	0	0	7667	942	33	1	945	1	IL18R1	2	103003430	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	499742	103003430	140195943	269	28542										
POU3F3	5455	genome.wustl.edu	37	chr2	105473121	105473121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgctgctgaacaagtggctgGaggaggcggactcaagcacc	15	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:105473121G>C	ENST00000361360.2	+	1	1153	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	385	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGTGGCTGGAGGAGGCGGA	0.617																																																	0													52	51	51					2																	105473121		2203	4300	6503	SO:0001583	missense	5455				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1153G>C	2.37:g.105473121G>C	ENSP00000355001:p.Glu385Gln		P78379|Q4ZG25	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.E385Q	ENST00000361360.2	37	c.1153	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271011	0.59540	.	.	ENSG00000198914	ENST00000361360	D	0.84442	-1.85	4.14	4.14	0.48551	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.64402	U	0.000002	T	0.82093	0.4962	L	0.28400	0.85	0.54753	D	0.999986	P	0.36483	0.555	B	0.43445	0.42	D	0.84779	0.0772	10	0.87932	D	0	.	15.1857	0.72999	0.0:0.0:1.0:0.0	.	385	P20264	PO3F3_HUMAN	Q	385	ENSP00000355001:E385Q	ENSP00000355001:E385Q	E	+	1	0	POU3F3	104839553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.171000	0.94802	1.858000	0.53909	0.462000	0.41574	GAG	POU3F3	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,prints_POU,pfscan_POU_specific		0.617	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	G			105473121	1	no_errors	ENST00000361360	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105473121	G	C	105473121	3	2	160	1	0	0	0	0	1	0	0	0	12300	1175	41	1	1155	1	POU3F3	2	105473121	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2469691	105473121	137726252	270	28543										
POU3F3	5455	genome.wustl.edu	37	chr2	105473394	105473394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccaacagcagacgcccgacGacgtctactcgcaggtgggc	12	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:105473394G>A	ENST00000361360.2	+	1	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	476					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACGCCCGACGACGTCTACTC	0.672																																																	0													21	25	24					2																	105473394		2202	4299	6501	SO:0001583	missense	5455				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1426G>A	2.37:g.105473394G>A	ENSP00000355001:p.Asp476Asn		P78379|Q4ZG25	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.D476N	ENST00000361360.2	37	c.1426	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964020	0.74131	.	.	ENSG00000198914	ENST00000361360	D	0.84516	-1.86	3.89	3.0	0.34707	Homeodomain-like (1);	0.942253	0.08564	U	0.927136	D	0.88833	0.6544	L	0.55990	1.75	0.46901	D	0.999243	D	0.67145	0.996	P	0.58620	0.842	D	0.83757	0.0212	10	0.72032	D	0.01	.	11.7004	0.51567	0.0:0.0:0.8215:0.1785	.	476	P20264	PO3F3_HUMAN	N	476	ENSP00000355001:D476N	ENSP00000355001:D476N	D	+	1	0	POU3F3	104839826	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	7.224000	0.78042	0.825000	0.34637	0.462000	0.41574	GAC	POU3F3	-	superfamily_Homeodomain-like,pirsf_Transcription_factor_POU		0.672	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	G			105473394	1	no_errors	ENST00000361360	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105473394	G	A	105473394	3	1	160	1	0	0	0	0	1	0	0	0	12300	1058	37	1	1428	1	POU3F3	2	105473394	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	273	105473394	137725979	271	28544										
ST6GAL2	84620	genome.wustl.edu	37	chr2	107460052	107460052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcaaaaaagtagtcgtcatCctccgggtagaaagcacttt	9	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:107460052C>T	ENST00000409382.3	-	2	992	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D128N|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D128N|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	128					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.D128N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTCGTCATCCTCCGGGTAG	0.552																																																	1	Substitution - Missense(1)	skin(1)											79	94	89					2																	107460052		2201	4299	6500	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.382G>A	2.37:g.107460052C>T	ENSP00000386942:p.Asp128Asn		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.D128N	ENST00000409382.3	37	c.382	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916987	0.33815	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32753	2.46;2.46;1.44	5.64	2.65	0.31530	.	1.237730	0.05340	N	0.529861	T	0.22666	0.0547	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.002	T	0.23940	-1.0174	10	0.29301	T	0.29	-11.5727	6.4969	0.22148	0.0:0.5515:0.2843:0.1641	.	128;128	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	N	128	ENSP00000355273:D128N;ENSP00000386942:D128N;ENSP00000387332:D128N	ENSP00000355273:D128N	D	-	1	0	ST6GAL2	106826484	0.008000	0.16893	0.230000	0.23976	0.886000	0.51366	1.047000	0.30367	0.709000	0.31976	0.655000	0.94253	GAT	ST6GAL2	-	NULL		0.552	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	C	NM_032528		107460052	-1	no_errors	ENST00000361686	ensembl	human	known	70_37	missense	SNP	0.013	T	T	107460052	C	T	107460052	3	4	160	1	0	0	0	0	1	0	0	0	15252	855	30	1	1314	1	ST6GAL2	2	107460052	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1986658	107460052	135739321	272	28545										
GCC2	9648	genome.wustl.edu	37	chr2	109087433	109087433	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaatgaaaagttactatctCaacaagaattggtaccagaa	6	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109087433C>T	ENST00000309863.6	+	6	2362	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	550					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						gttactatctcaacaagaatt	0.373																																																	0													38	42	41					2																	109087433		2190	4289	6479	SO:0001587	stop_gained	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1648C>T	2.37:g.109087433C>T	ENSP00000307939:p.Gln550*		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q550*	ENST00000309863.6	37	c.1648	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494714	0.85069	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.31	3.38	0.38709	.	0.594275	0.17153	N	0.184977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.5421	0.33399	0.4291:0.4927:0.0:0.0782	.	.	.	.	X	550;513;295	.	ENSP00000307939:Q550X	Q	+	1	0	GCC2	108453865	0.000000	0.05858	0.053000	0.19242	0.944000	0.59088	0.169000	0.16641	1.345000	0.45676	0.650000	0.86243	CAA	GCC2	-	NULL		0.373	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	C	NM_014635		109087433	1	no_errors	ENST00000309863	ensembl	human	known	70_37	nonsense	SNP	0.030	T	T	109087433	C	T	109087433	4	4	160	1	0	0	0	0	0	1	0	0	6305	827	29	1	1670	1	GCC2	2	109087433	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1627381	109087433	134111940	273	28546										
GCC2	9648	genome.wustl.edu	37	chr2	109088372	109088372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctgcagtctgatcttctaGaaatgaagaatgctaatgaa	8	8	3	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109088372G>C	ENST00000309863.6	+	6	3301	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	863					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGATCTTCTAGAAATGAAGAA	0.328																																																	0													33	36	35					2																	109088372		2194	4298	6492	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2587G>C	2.37:g.109088372G>C	ENSP00000307939:p.Glu863Gln		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E863Q	ENST00000309863.6	37	c.2587	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411074	0.62399	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.47528	0.84	5.45	5.45	0.79879	.	0.188803	0.45126	D	0.000381	T	0.67069	0.2854	M	0.71581	2.175	0.40991	D	0.984857	D	0.76494	0.999	D	0.66084	0.941	T	0.62595	-0.6821	10	0.27082	T	0.32	.	19.6575	0.95849	0.0:0.0:1.0:0.0	.	863	Q8IWJ2	GCC2_HUMAN	Q	863;826;607	ENSP00000307939:E863Q	ENSP00000307939:E863Q	E	+	1	0	GCC2	108454804	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	4.983000	0.63832	2.728000	0.93425	0.650000	0.86243	GAA	GCC2	-	NULL		0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109088372	1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	0.986	C	C	109088372	G	C	109088372	3	2	160	1	0	0	0	0	1	0	0	0	6305	943	33	1	2609	1	GCC2	2	109088372	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	939	109088372	134111001	274	28547										
RANBP2	5903	genome.wustl.edu	37	chr2	109381352	109381352	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagtggatcttcatttgttCatcaagcttcatttaaattt	5	6	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109381352C>T	ENST00000283195.6	+	20	4483	c.4357C>T	c.(4357-4359)Cat>Tat	p.H1453Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1453					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCATTTGTTCATCAAGCTTC	0.363																																																	0													77	76	76					2																	109381352		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4357C>T	2.37:g.109381352C>T	ENSP00000283195:p.His1453Tyr		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.H1453Y	ENST00000283195.6	37	c.4357	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	4.936	0.173858	0.09391	.	.	ENSG00000153201	ENST00000283195	T	0.28255	1.62	4.55	1.61	0.23674	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.23084	-1.0198	9	0.48119	T	0.1	2.816	7.1135	0.25403	0.4453:0.4761:0.0:0.0786	.	1453	P49792	RBP2_HUMAN	Y	1453	ENSP00000283195:H1453Y	ENSP00000283195:H1453Y	H	+	1	0	RANBP2	108747784	0.397000	0.25270	0.610000	0.28997	0.941000	0.58515	1.073000	0.30691	0.007000	0.14760	0.655000	0.94253	CAT	RANBP2	-	NULL		0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	C	NM_006267		109381352	1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	0.137	T	T	109381352	C	T	109381352	3	4	160	1	0	0	0	0	1	0	0	0	13058	826	29	1	4435	1	RANBP2	2	109381352	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	292980	109381352	133818021	275	28548										
RANBP2	5903	genome.wustl.edu	37	chr2	109383853	109383853	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctcctgccaagttgaatcaGagtgggacttcagttggcac	11	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:109383853G>C	ENST00000283195.6	+	20	6984	c.6858G>C	c.(6856-6858)caG>caC	p.Q2286H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2286					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q2286Q(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTGAATCAGAGTGGGACTT	0.393																																																	2	Substitution - coding silent(2)	lung(2)											52	59	57					2																	109383853		2190	4272	6462	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6858G>C	2.37:g.109383853G>C	ENSP00000283195:p.Gln2286His		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.Q2286H	ENST00000283195.6	37	c.6858	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420829	0.42918	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29397	1.57	5.8	4.93	0.64822	.	.	.	.	.	T	0.17534	0.0421	N	0.19112	0.55	0.32140	N	0.585668	P	0.36599	0.56	B	0.31547	0.132	T	0.17715	-1.0360	9	0.52906	T	0.07	-13.5524	6.9492	0.24536	0.1429:0.0:0.7156:0.1415	.	2286	P49792	RBP2_HUMAN	H	1310;2286	ENSP00000283195:Q2286H	ENSP00000283195:Q2286H	Q	+	3	2	RANBP2	108750285	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.393000	0.52544	1.465000	0.48006	0.455000	0.32223	CAG	RANBP2	-	NULL		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109383853	1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109383853	G	C	109383853	3	2	160	1	0	0	0	0	1	0	0	0	13058	933	33	1	6936	1	RANBP2	2	109383853	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2501	109383853	133815520	276	28549										
ZC3H6	376940	genome.wustl.edu	37	chr2	113079381	113079381	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggagcaaaatgttaccaggGagacaactgtaaattttccc	9	8	0	1	rs576950181		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113079381G>C	ENST00000409871.1	+	8	1426	c.1025G>C	c.(1024-1026)gGa>gCa	p.G342A	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G342A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	342							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGTTACCAGGGAGACAACTGT	0.303													G|||	1	0.000199681	0	0	5008	,	,		14745	0.001		0	False		,,,				2504	0																0													52	45	47					2																	113079381		1798	4068	5866	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1025G>C	2.37:g.113079381G>C	ENSP00000386764:p.Gly342Ala		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G342A	ENST00000409871.1	37	c.1025	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.129759	0.94473	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.40476	1.03;1.03	5.53	5.53	0.82687	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72161	-0.4374	10	0.87932	D	0	-23.3866	19.816	0.96568	0.0:0.0:1.0:0.0	.	342	P61129	ZC3H6_HUMAN	A	342;342;319	ENSP00000386764:G342A;ENSP00000340298:G342A	ENSP00000340298:G342A	G	+	2	0	ZC3H6	112795852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.387000	0.97232	2.755000	0.94549	0.637000	0.83480	GGA	ZC3H6	-	smart_Znf_CCCH		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113079381	1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	C	C	113079381	G	C	113079381	3	2	160	1	0	0	0	0	1	0	0	0	17601	1174	41	1	1055	1	ZC3H6	2	113079381	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3695528	113079381	130119992	277	28550										
TTL	150465	genome.wustl.edu	37	chr2	113286340	113286340	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccagatgtggagcaacctCagacccagccagctgccttc	9	17	1	2	rs549319256		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:113286340C>G	ENST00000233336.6	+	7	1293	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	368	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGAGCAACCTCAGACCCAGCC	0.532			T	ETV6	ALL								C|||	1	0.000199681	8e-04	0	5008	,	,		18387	0		0	False		,,,				2504	0							Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0													98	91	94					2																	113286340		2203	4300	6503	SO:0001583	missense	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.1102C>G	2.37:g.113286340C>G	ENSP00000233336:p.Gln368Glu		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q368E	ENST00000233336.6	37	c.1102	CCDS2096.1	2	.	.	.	.	.	.	.	.	.	.	C	1.311	-0.602276	0.03744	.	.	ENSG00000114999	ENST00000233336	T	0.07908	3.15	4.8	4.8	0.61643	.	1.906560	0.02369	N	0.077658	T	0.06462	0.0166	N	0.03608	-0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.35919	-0.9769	10	0.15952	T	0.53	.	16.7871	0.85576	0.0:1.0:0.0:0.0	.	368	Q8NG68	TTL_HUMAN	E	368	ENSP00000233336:Q368E	ENSP00000233336:Q368E	Q	+	1	0	TTL	113002811	0.981000	0.34729	0.007000	0.13788	0.068000	0.16541	2.031000	0.41117	2.469000	0.83416	0.650000	0.86243	CAG	TTL	-	NULL		0.532	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	C	NM_153712		113286340	1	no_errors	ENST00000233336	ensembl	human	known	70_37	missense	SNP	0.019	G	G	113286340	C	G	113286340	3	3	160	1	0	0	0	0	1	0	0	0	16752	827	29	1	1128	1	TTL	2	113286340	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	206959	113286340	129913033	278	28551										
FOXD4L1	200350	genome.wustl.edu	37	chr2	114257652	114257652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcgctacctactgctctcGgcccccgcctatgccggggc	10	20	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:114257652G>A	ENST00000306507.5	+	1	992	c.819G>A	c.(817-819)tcG>tcA	p.S273S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	273	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTGCTCTCGGCCCCCGCCT	0.706																																																	0													21	26	24					2																	114257652		1519	3030	4549	SO:0001819	synonymous_variant	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.819G>A	2.37:g.114257652G>A			B3KWN1|B9EGF3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S273	ENST00000306507.5	37	c.819	CCDS2117.1	2																																																																																			FOXD4L1	-	NULL		0.706	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	G	NM_012184		114257652	1	no_errors	ENST00000306507	ensembl	human	known	70_37	silent	SNP	0.028	A	A	114257652	G	A	114257652	2	1	160	1	0	0	0	0	0	0	0	1	6018	1103	39	2		2	FOXD4L1	2	114257652	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	971312	114257652	128941721	279	28552										
SLC35F5	80255	genome.wustl.edu	37	chr2	114513965	114513965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctggccttcctgccccgcGatggcgtcgtggcggcacca	13	17	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:114513965G>A	ENST00000245680.2	-	1	435	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	SLC35F5_ENST00000409342.1_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	8					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CCTGCCCCGCGATGGCGTCGT	0.731																																																	0													24	23	24					2																	114513965		2177	4270	6447	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.22C>T	2.37:g.114513965G>A	ENSP00000245680:p.Arg8Cys		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	pfam_DMT	p.R8C	ENST00000245680.2	37	c.22	CCDS2119.1	2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559567	0.65538	.	.	ENSG00000115084	ENST00000245680	T	0.47177	0.85	4.84	3.9	0.45041	.	0.451895	0.18919	N	0.127536	T	0.26521	0.0648	N	0.08118	0	0.80722	D	1	P;D	0.60575	0.83;0.988	B;B	0.41299	0.116;0.353	T	0.08889	-1.0700	10	0.56958	D	0.05	-0.0129	10.5363	0.45007	0.0:0.1959:0.8041:0.0	.	8;8	B2RDY0;Q8WV83	.;S35F5_HUMAN	C	8	ENSP00000245680:R8C	ENSP00000245680:R8C	R	-	1	0	SLC35F5	114230435	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	2.391000	0.44424	2.666000	0.90696	0.655000	0.94253	CGC	SLC35F5	-	NULL		0.731	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1	G	NM_025181		114513965	-1	no_errors	ENST00000245680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114513965	G	A	114513965	3	1	160	1	0	0	0	0	1	0	0	0	14622	1058	37	1	1609	1	SLC35F5	2	114513965	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	256313	114513965	128685408	280	28553										
INSIG2	51141	genome.wustl.edu	37	chr2	118865890	118865890	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttatcgcagaaaaatctcatCaggaatgaagaaggcaaaaa	8	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:118865890C>T	ENST00000245787.4	+	6	876	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	224					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAAATCTCATCAGGAATGAAG	0.303																																																	0													79	82	81					2																	118865890		2203	4298	6501	SO:0001587	stop_gained	51141			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.670C>T	2.37:g.118865890C>T	ENSP00000245787:p.Gln224*		A8K5W8|Q8TBI8	Nonsense_Mutation	SNP	pfam_INSIG_fam	p.Q224*	ENST00000245787.4	37	c.670	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.153741	0.94645	.	.	ENSG00000125629	ENST00000245787	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.38993	D	0.959183	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.2906	0.66275	0.0:0.8073:0.1926:0.0	.	.	.	.	X	224	.	ENSP00000245787:Q224X	Q	+	1	0	INSIG2	118582360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.976000	0.56867	2.591000	0.87537	0.655000	0.94253	CAG	INSIG2	-	NULL		0.303	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	C	NM_016133		118865890	1	no_errors	ENST00000245787	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	118865890	C	T	118865890	4	4	160	1	0	0	0	0	0	1	0	0	7786	827	29	1	688	1	INSIG2	2	118865890	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4351925	118865890	124333483	281	28554										
DBI	1622	genome.wustl.edu	37	chr2	120124915	120124915	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggagtcgagggtgcttgatGgagagatgggggaaggggtt	23	2	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:120124915G>A	ENST00000355857.3	+	1	140				C2orf76_ENST00000409877.1_5'Flank|C2orf76_ENST00000498049.1_5'Flank|DBI_ENST00000542275.1_Start_Codon_SNP_p.M1I|C2orf76_ENST00000409523.1_5'Flank|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000393103.2_5'Flank|DBI_ENST00000535617.1_Intron|DBI_ENST00000535757.1_Intron|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Intron|C2orf76_ENST00000409466.2_5'Flank|DBI_ENST00000311521.4_Intron	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GGTGCTTGATGGAGAGATGGG	0.627																																																	0																																										SO:0001627	intron_variant	1622			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.9+279G>A	2.37:g.120124915G>A			B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.M1I	ENST00000355857.3	37	c.3	CCDS42740.1	2	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703706	0.15172	.	.	ENSG00000155368	ENST00000542275	T	0.18657	2.2	3.84	-2.57	0.06248	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.37686	-0.9695	6	0.87932	D	0	.	9.2287	0.37423	0.4175:0.0:0.5825:0.0	.	.	.	.	I	1	ENSP00000440698:M1I	ENSP00000440698:M1I	M	+	3	0	DBI	119841385	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.266000	0.18534	-0.519000	0.06444	-0.469000	0.05056	ATG	DBI	-	NULL		0.627	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBI	HGNC	protein_coding	OTTHUMT00000330590.1	G	NM_020548		120124915	1	no_errors	ENST00000542275	ensembl	human	known	70_37	missense	SNP	0.000	A	A	120124915	G	A	120124915	1	1	160	0	1	0	0	0	0	0	0	0	4256	1348	47	4		4	DBI	2	120124915	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1259025	120124915	123074458	282	28555										
PCDP1	200373	genome.wustl.edu	37	chr2	120414017	120414017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaggaacctgcggggcaaaGcactcaacacatacctgatt	10	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:120414017G>T	ENST00000413369.3	+	24	2581	c.2494G>T	c.(2494-2496)Gca>Tca	p.A832S	PCDP1_ENST00000602047.1_Missense_Mutation_p.A546S	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GCGGGGCAAAGCACTCAACAC	0.502																																																	0													100	99	100					2																	120414017		2203	4300	6503	SO:0001583	missense	200373																														ENST00000413369.3:c.2494G>T	2.37:g.120414017G>T	ENSP00000393222:p.Ala832Ser			Missense_Mutation	SNP	NULL	p.A546S	ENST00000413369.3	37	c.1636	CCDS33282.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.754|9.754	1.168265|1.168265	0.21621|0.21621	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972	T|T	0.36878|0.48201	1.23|0.82	4.68|4.68	3.73|3.73	0.42828|0.42828	.|.	0.106801|.	0.41097|.	D|.	0.000950|.	T|T	0.42720|0.42720	0.1215|0.1215	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|.	0.30937|.	0.301|.	B|.	0.31495|.	0.131|.	T|T	0.21827|0.21827	-1.0234|-1.0234	10|7	0.59425|0.40728	D|T	0.04|0.16	-16.9296|-16.9296	9.5595|9.5595	0.39360|0.39360	0.0:0.0:0.7907:0.2093|0.0:0.0:0.7907:0.2093	.|.	832|.	Q4G0U5|.	PCDP1_HUMAN|.	S|N	546;832|390	ENSP00000393222:A832S|ENSP00000413299:K390N	ENSP00000295220:A546S|ENSP00000413299:K390N	A|K	+|+	1|3	0|2	AC069154.2|AC069154.2	120130487|120130487	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.114000|0.114000	0.19823|0.19823	1.632000|1.632000	0.37102|0.37102	2.594000|2.594000	0.87642|0.87642	0.563000|0.563000	0.77884|0.77884	GCA|AAG	PCDP1	-	NULL		0.502	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_genename	protein_coding	OTTHUMT00000464236.1	G			120414017	1	no_errors	ENST00000602047	ensembl	human	known	70_37	missense	SNP	0.993	T	T	120414017	G	T	120414017	3	4	160	1	0	0	0	0	1	0	0	0	11596	971	34	4	1698	4	PCDP1	2	120414017	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	289102	120414017	122785356	283	28556										
GLI2	2736	genome.wustl.edu	37	chr2	121746932	121746932	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatgcctgtgcagtggaatGaggtgagctccggcaccgta	14	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:121746932G>C	ENST00000452319.1	+	14	3502	c.3442G>C	c.(3442-3444)Gag>Cag	p.E1148Q	GLI2_ENST00000361492.4_Missense_Mutation_p.E1148Q|GLI2_ENST00000314490.11_Missense_Mutation_p.E820Q					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAGTGGAATGAGGTGAGCTC	0.627																																																	0													28	26	27					2																	121746932		2183	4267	6450	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3442G>C	2.37:g.121746932G>C	ENSP00000390436:p.Glu1148Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1148Q	ENST00000452319.1	37	c.3442	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632331	0.87660	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.28454	1.81;1.81;1.61	4.87	4.87	0.63330	.	0.153534	0.56097	D	0.000024	T	0.57873	0.2083	M	0.75777	2.31	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.999;0.998	T	0.62789	-0.6780	10	0.87932	D	0	.	18.2578	0.90025	0.0:0.0:1.0:0.0	.	1148;803;803;820	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	Q	1148;1148;820	ENSP00000390436:E1148Q;ENSP00000354586:E1148Q;ENSP00000312694:E820Q	ENSP00000312694:E820Q	E	+	1	0	GLI2	121463402	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	9.524000	0.98036	2.542000	0.85734	0.449000	0.29647	GAG	GLI2	-	NULL		0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	G	NM_005270		121746932	1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121746932	G	C	121746932	3	2	160	1	0	0	0	0	1	0	0	0	6457	1291	45	1	3492	1	GLI2	2	121746932	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1332915	121746932	121452441	284	28557										
MKI67IP	84365	genome.wustl.edu	37	chr2	122493260	122493260	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atatgaaaagatctgggtttCgtcaagtaggttaggtaggt	13	3	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:122493260C>A	ENST00000285814.4	-	2	244	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		58	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						ATCTGGGTTTCGTCAAGTAGG	0.393																																																	0													114	109	111					2																	122493260		2203	4300	6503	SO:0001587	stop_gained	84365																														ENST00000285814.4:c.172G>T	2.37:g.122493260C>A	ENSP00000285814:p.Glu58*		A8K788|Q8TB66|Q96ED4	Nonsense_Mutation	SNP	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E58*	ENST00000285814.4	37	c.172	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831999	0.71258	.	.	ENSG00000155438	ENST00000285814;ENST00000409201	.	.	.	4.28	4.28	0.50868	.	0.043412	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.9511	12.5486	0.56214	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000285814:E58X	E	-	1	0	MKI67IP	122209730	1.000000	0.71417	0.800000	0.32199	0.015000	0.08874	6.058000	0.71126	2.093000	0.63338	0.561000	0.74099	GAA	MKI67IP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.393	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2	C			122493260	-1	no_errors	ENST00000285814	ensembl	human	known	70_37	nonsense	SNP	0.999	A	A	122493260	C	A	122493260	4	1	160	1	0	0	0	0	0	1	0	0	9622	893	31	3	733	3	MKI67IP	2	122493260	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	746328	122493260	120706113	285	28558										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125671805	125671805	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaaatttggacagttccttCagaaatgaaattgacttgca	8	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:125671805C>T	ENST00000431078.1	+	24	4225	c.3861C>T	c.(3859-3861)ttC>ttT	p.F1287F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1287					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGTTCCTTCAGAAATGAAA	0.433																																																	0													119	118	118					2																	125671805		1901	4126	6027	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3861C>T	2.37:g.125671805C>T			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F1287	ENST00000431078.1	37	c.3861	CCDS46401.1	2																																																																																			CNTNAP5	-	NULL		0.433	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	C			125671805	1	no_errors	ENST00000431078	ensembl	human	known	70_37	silent	SNP	0.999	T	T	125671805	C	T	125671805	2	4	160	1	0	0	0	0	0	0	0	1	3655	825	29	1		1	CNTNAP5	2	125671805	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3178545	125671805	117527568	286	28559										
BIN1	274	genome.wustl.edu	37	chr2	127809887	127809887	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggacacagcaaaggtgccctCggcagcgctgggctccccgg	15	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:127809887C>G	ENST00000316724.5	-	15	1726	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	BIN1_ENST00000466111.1_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.E352Q|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Missense_Mutation_p.E321Q|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000346226.3_Missense_Mutation_p.E364Q|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.E396Q	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	439					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAGGTGCCCTCGGCAGCGCTG	0.706																																																	0													8	10	10					2																	127809887		2164	4270	6434	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1315G>C	2.37:g.127809887C>G	ENSP00000316779:p.Glu439Gln		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.E439Q	ENST00000316724.5	37	c.1315	CCDS2138.1	2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164361	0.38217	.	.	ENSG00000136717	ENST00000357970;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000316724	T;T;T;T;T	0.63913	-0.02;0.53;0.53;0.48;-0.07	4.74	3.86	0.44501	.	0.359391	0.28176	N	0.016313	T	0.56307	0.1976	N	0.22421	0.69	0.80722	D	1	B;B;B;P;B	0.39181	0.0;0.254;0.015;0.663;0.337	B;B;B;P;B	0.47827	0.0;0.079;0.042;0.558;0.1	T	0.57670	-0.7771	10	0.46703	T	0.11	-27.4067	11.7294	0.51728	0.0:0.9127:0.0:0.0873	.	321;364;352;396;439	O00499-4;O00499-2;O00499-3;O00499-5;O00499	.;.;.;.;BIN1_HUMAN	Q	396;364;321;352;439	ENSP00000350654:E396Q;ENSP00000315411:E364Q;ENSP00000376761:E321Q;ENSP00000315388:E352Q;ENSP00000316779:E439Q	ENSP00000316779:E439Q	E	-	1	0	BIN1	127526357	1.000000	0.71417	0.717000	0.30585	0.972000	0.66771	1.909000	0.39917	1.236000	0.43740	0.549000	0.68633	GAG	BIN1	-	NULL		0.706	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	C	NM_139343		127809887	-1	no_errors	ENST00000316724	ensembl	human	known	70_37	missense	SNP	0.969	G	G	127809887	C	G	127809887	3	3	160	1	0	0	0	0	1	0	0	0	1433	893	31	1	486	1	BIN1	2	127809887	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2138082	127809887	115389486	287	28560										
ERCC3	2071	genome.wustl.edu	37	chr2	128030510	128030510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaatttgcatcctttccccCtgagacgtaggtccgtagat	9	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:128030510C>T	ENST00000285398.2	-	11	1852	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	ERCC3_ENST00000493187.2_Silent_p.Q522Q	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	586	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTTTCCCCCTGAGACGTAG	0.438			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0													148	133	138					2																	128030510		2203	4300	6503	SO:0001819	synonymous_variant	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1758G>A	2.37:g.128030510C>T			Q53QM0	Silent	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.Q586	ENST00000285398.2	37	c.1758	CCDS2144.1	2																																																																																			ERCC3	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_XPGB_DNA_repair		0.438	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	C	NM_000122		128030510	-1	no_errors	ENST00000285398	ensembl	human	known	70_37	silent	SNP	0.906	T	T	128030510	C	T	128030510	2	4	160	1	0	0	0	0	0	0	0	1	5226	680	24	4		4	ERCC3	2	128030510	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	220623	128030510	115168863	288	28561										
ERCC3	2071	genome.wustl.edu	37	chr2	128051204	128051204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccacctgcttccccgccgccGagggaaccgcttcctgaggg	12	18	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:128051204G>A	ENST00000285398.2	-	2	213	c.119C>T	c.(118-120)tCg>tTg	p.S40L	ERCC3_ENST00000493187.2_5'UTR	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	40					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCCCGCCGCCGAGGGAACCGC	0.567			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0													86	89	88					2																	128051204		2203	4300	6503	SO:0001583	missense	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.119C>T	2.37:g.128051204G>A	ENSP00000285398:p.Ser40Leu		Q53QM0	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.S40L	ENST00000285398.2	37	c.119	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600704	0.46423	.	.	ENSG00000163161	ENST00000285398	T	0.63580	-0.05	4.65	4.65	0.58169	.	0.137219	0.50627	D	0.000113	T	0.48732	0.1516	N	0.20685	0.6	0.80722	D	1	B;B	0.21309	0.0;0.054	B;B	0.20577	0.002;0.03	T	0.40040	-0.9584	10	0.25751	T	0.34	-5.0141	17.7163	0.88338	0.0:0.0:1.0:0.0	.	40;40	A8K359;P19447	.;ERCC3_HUMAN	L	40	ENSP00000285398:S40L	ENSP00000285398:S40L	S	-	2	0	ERCC3	127767674	1.000000	0.71417	0.346000	0.25655	0.104000	0.19210	8.952000	0.93031	2.397000	0.81536	0.655000	0.94253	TCG	ERCC3	-	NULL		0.567	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	G	NM_000122		128051204	-1	no_errors	ENST00000285398	ensembl	human	known	70_37	missense	SNP	0.933	A	A	128051204	G	A	128051204	3	1	160	1	0	0	0	0	1	0	0	0	5226	1059	37	1	2285	1	ERCC3	2	128051204	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	20694	128051204	115148169	289	28562										
RAB6C	84084	genome.wustl.edu	37	chr2	130737913	130737913	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acggcgggtcaggaacgtctCcgtagcctcattcccaggta	12	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:130737913C>G	ENST00000410061.2	+	1	679	c.225C>G	c.(223-225)ctC>ctG	p.L75L	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	75	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGAACGTCTCCGTAGCCTCA	0.448																																																	0													16	18	17					2																	130737913		2143	4241	6384	SO:0001819	synonymous_variant	84084			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"RAB, member RAS oncogene"	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.225C>G	2.37:g.130737913C>G			Q53RU3|Q6FIF7|Q9P128	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L75	ENST00000410061.2	37	c.225	CCDS46408.1	2																																																																																			RAB6C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.448	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	C	NM_032144		130737913	1	no_errors	ENST00000410061	ensembl	human	known	70_37	silent	SNP	1.000	G	G	130737913	C	G	130737913	2	3	160	1	0	0	0	0	0	0	0	1	12983	842	30	1		1	RAB6C	2	130737913	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2686709	130737913	112461460	290	28563										
RAB6C	84084	genome.wustl.edu	37	chr2	130738343	130738343	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtcatcttcaacccttcctCagaagcccccttactctttc	3	17	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:130738343C>G	ENST00000410061.2	+	1	1109	c.655C>G	c.(655-657)Cag>Gag	p.Q219E	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	219					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AACCCTTCCTCAGAAGCCCCC	0.448																																																	0													38	36	36					2																	130738343		1950	4144	6094	SO:0001583	missense	84084			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"RAB, member RAS oncogene"	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.655C>G	2.37:g.130738343C>G	ENSP00000387307:p.Gln219Glu		Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q219E	ENST00000410061.2	37	c.655	CCDS46408.1	2	.	.	.	.	.	.	.	.	.	.	c	1.200	-0.632878	0.03584	.	.	ENSG00000222014	ENST00000410061	T	0.67171	-0.25	0.49	0.49	0.16861	.	.	.	.	.	T	0.40909	0.1136	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31888	-0.9927	9	0.72032	D	0.01	.	3.5549	0.07861	0.4398:0.56:1.0E-4:1.0E-4	.	219	Q9H0N0	RAB6C_HUMAN	E	219	ENSP00000387307:Q219E	ENSP00000387307:Q219E	Q	+	1	0	RAB6C	130454813	0.956000	0.32656	0.151000	0.22473	0.235000	0.25334	1.260000	0.32968	0.519000	0.28406	0.121000	0.15741	CAG	RAB6C	-	NULL		0.448	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	C	NM_032144		130738343	1	no_errors	ENST00000410061	ensembl	human	known	70_37	missense	SNP	0.160	G	G	130738343	C	G	130738343	3	3	160	1	0	0	0	0	1	0	0	0	12983	827	29	1	657	1	RAB6C	2	130738343	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	430	130738343	112461030	291	28564										
CCNT2	905	genome.wustl.edu	37	chr2	135710843	135710843	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaagtagatggacaggtatCagagacaccacttcttggtt	10	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:135710843C>G	ENST00000264157.5	+	9	848	c.818C>G	c.(817-819)tCa>tGa	p.S273*	CCNT2_ENST00000295238.6_Nonsense_Mutation_p.S273*|CCNT2_ENST00000537343.1_Nonsense_Mutation_p.S98*	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	273					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGACAGGTATCAGAGACACCA	0.368																																																	0													100	96	97					2																	135710843		2203	4300	6503	SO:0001587	stop_gained	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.818C>G	2.37:g.135710843C>G	ENSP00000264157:p.Ser273*		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S273*	ENST00000264157.5	37	c.818	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925791	0.92319	.	.	ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157	.	.	.	5.83	5.83	0.93111	.	0.138684	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.3076	0.90188	0.0:1.0:0.0:0.0	.	.	.	.	X	114;98;273;273	.	ENSP00000264157:S273X	S	+	2	0	CCNT2	135427313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.826000	0.62715	2.775000	0.95449	0.585000	0.79938	TCA	CCNT2	-	NULL		0.368	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	C	NM_058241		135710843	1	no_errors	ENST00000264157	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	135710843	C	G	135710843	4	3	160	1	0	0	0	0	0	1	0	0	2940	838	29	1	852	1	CCNT2	2	135710843	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4972500	135710843	107488530	292	28565										
CCNT2	905	genome.wustl.edu	37	chr2	135710948	135710948	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagaaaccatctacatcagCattccctgcgccagtacctc	5	16	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:135710948C>G	ENST00000264157.5	+	9	953	c.923C>G	c.(922-924)gCa>gGa	p.A308G	CCNT2_ENST00000295238.6_Missense_Mutation_p.A308G|CCNT2_ENST00000537343.1_Missense_Mutation_p.A133G	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	308					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		tctacatcagcATTCCCTGCG	0.408																																																	0													91	79	83					2																	135710948		2201	4298	6499	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.923C>G	2.37:g.135710948C>G	ENSP00000264157:p.Ala308Gly		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A308G	ENST00000264157.5	37	c.923	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259109	0.59321	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.27402	1.67;1.74	5.62	5.62	0.85841	.	0.382644	0.29846	N	0.011059	T	0.26122	0.0637	L	0.29908	0.895	0.37842	D	0.929079	B;B;B	0.31752	0.081;0.189;0.338	B;B;B	0.29267	0.031;0.036;0.1	T	0.07158	-1.0787	10	0.27785	T	0.31	.	19.6696	0.95907	0.0:1.0:0.0:0.0	.	133;308;308	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	G	133;308;308	ENSP00000295238:A308G;ENSP00000264157:A308G	ENSP00000264157:A308G	A	+	2	0	CCNT2	135427418	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.769000	0.68865	2.665000	0.90641	0.585000	0.79938	GCA	CCNT2	-	NULL		0.408	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	C	NM_058241		135710948	1	no_errors	ENST00000264157	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135710948	C	G	135710948	3	3	160	1	0	0	0	0	1	0	0	0	2940	710	25	4	957	4	CCNT2	2	135710948	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	105	135710948	107488425	293	28566										
YSK4	80122	genome.wustl.edu	37	chr2	135738750	135738750	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcataacattatttcctttGatatcgcgatgtaccacaca	5	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:135738750G>C	ENST00000375845.3	-	9	3591	c.3561C>G	c.(3559-3561)atC>atG	p.I1187M	MAP3K19_ENST00000358371.4_Missense_Mutation_p.I1074M|MAP3K19_ENST00000392918.3_Missense_Mutation_p.I321M|MAP3K19_ENST00000315513.3_Missense_Mutation_p.I48M|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.I369M|MAP3K19_ENST00000392917.3_Missense_Mutation_p.I319M	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TATTTCCTTTGATATCGCGAT	0.433																																																	0													140	136	138					2																	135738750		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3561C>G	2.37:g.135738750G>C	ENSP00000365005:p.Ile1187Met		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.I1187M	ENST00000375845.3	37	c.3561	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384191	0.42308	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.88	3.05	0.35203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000237	T	0.61337	0.2339	M	0.88979	2.995	0.32145	N	0.584948	D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.959;0.996;0.973;0.982;0.998	T	0.69239	-0.5197	10	0.87932	D	0	.	8.1263	0.31001	0.1279:0.0:0.6402:0.2318	.	319;1074;321;369;1187	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	M	1187;1074;369;321;319;577;48	ENSP00000365005:I1187M;ENSP00000351140:I1074M;ENSP00000365004:I369M;ENSP00000376650:I321M;ENSP00000376649:I319M;ENSP00000392827:I577M;ENSP00000321160:I48M	ENSP00000321160:I48M	I	-	3	3	YSK4	135455220	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.145000	0.31577	0.411000	0.25702	-0.808000	0.03180	ATC	MAP3K19	-	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		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135738750	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.996	C	C	135738750	G	C	135738750	3	2	160	1	0	0	0	0	1	0	0	0	17526	1280	45	1	433	1	YSK4	2	135738750	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	27802	135738750	107460623	294	28567										
NXPH2	11249	genome.wustl.edu	37	chr2	139428603	139428603	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgtaaatgcaaatgaccttGaagggcttggagcacaacca	10	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:139428603G>C	ENST00000272641.3	-	2	790	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	228	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AAATGACCTTGAAGGGCTTGG	0.463																																																	0													90	86	87					2																	139428603		1921	4134	6055	SO:0001583	missense	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.684C>G	2.37:g.139428603G>C	ENSP00000272641:p.Phe228Leu		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.F228L	ENST00000272641.3	37	c.684	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608170	0.66558	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.51	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.73962	2.25	0.54753	D	0.999985	D	0.76494	0.999	D	0.83275	0.996	T	0.76350	-0.2991	8	.	.	.	-20.3065	10.6591	0.45692	0.217:0.0:0.783:0.0	.	228	O95156	NXPH2_HUMAN	L	228	.	.	F	-	3	2	NXPH2	139145073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.782000	0.38654	1.442000	0.47568	0.655000	0.94253	TTC	NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.463	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	G			139428603	-1	no_errors	ENST00000272641	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139428603	G	C	139428603	3	2	160	1	0	0	0	0	1	0	0	0	10815	1281	45	1	114	1	NXPH2	2	139428603	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3689853	139428603	103770770	295	28568										
LRP1B	53353	genome.wustl.edu	37	chr2	141812716	141812716	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgccatcacttcccaagttGaagccagtcctgcagcgaca	8	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:141812716G>C	ENST00000389484.3	-	10	2492	c.1521C>G	c.(1519-1521)ttC>ttG	p.F507L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	507	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCCAAGTTGAAGCCAGTCC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													109	95	100					2																	141812716		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1521C>G	2.37:g.141812716G>C	ENSP00000374135:p.Phe507Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F507L	ENST00000389484.3	37	c.1521	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081531	0.76528	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97620	-4.46	5.45	4.58	0.56647	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.072669	0.56097	U	0.000035	D	0.94082	0.8103	L	0.45470	1.425	0.49483	D	0.999798	B	0.34372	0.451	B	0.30179	0.112	D	0.92378	0.5911	10	0.24483	T	0.36	.	14.1792	0.65562	0.0721:0.0:0.9279:0.0	.	507	Q9NZR2	LRP1B_HUMAN	L	507;445	ENSP00000374135:F507L	ENSP00000374135:F507L	F	-	3	2	LRP1B	141529186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.595000	0.74109	1.318000	0.45170	-0.259000	0.10710	TTC	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141812716	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141812716	G	C	141812716	3	2	160	1	0	0	0	0	1	0	0	0	8978	1281	45	1	12606	1	LRP1B	2	141812716	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2384113	141812716	101386657	296	28569										
GTDC1	79712	genome.wustl.edu	37	chr2	144966248	144966248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccaatgccatttctttgcaGgaagggtataaacgacacag	9	9	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:144966248G>A	ENST00000392869.2	-	3	253	c.101C>T	c.(100-102)cCt>cTt	p.P34L	GTDC1_ENST00000241391.5_Missense_Mutation_p.P34L|GTDC1_ENST00000409214.1_Missense_Mutation_p.P34L|GTDC1_ENST00000392867.3_Missense_Mutation_p.P34L|GTDC1_ENST00000467352.1_5'Flank|GTDC1_ENST00000344850.4_Missense_Mutation_p.P34L|GTDC1_ENST00000409298.1_Missense_Mutation_p.P34L|GTDC1_ENST00000542155.1_Missense_Mutation_p.P34L|GTDC1_ENST00000463875.2_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	34					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTTCTTTGCAGGAAGGGTATA	0.438																																																	0													90	89	89					2																	144966248		2203	4300	6503	SO:0001583	missense	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.101C>T	2.37:g.144966248G>A	ENSP00000376608:p.Pro34Leu		A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.P34L	ENST00000392869.2	37	c.101	CCDS33300.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442720	0.83993	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.08	5.19	0.71726	Glycosyltransferase family 1, N-terminal (1);	0.054232	0.85682	D	0.000000	T	0.77658	0.4163	M	0.89478	3.035	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.898;1.0	D;D;P;D	0.81914	0.993;0.995;0.566;0.991	T	0.83194	-0.0082	10	0.87932	D	0	-0.66	17.423	0.87519	0.0:0.1246:0.8754:0.0	.	34;34;34;34	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	L	34	ENSP00000376608:P34L;ENSP00000386581:P34L;ENSP00000376606:P34L;ENSP00000386691:P34L;ENSP00000438323:P34L;ENSP00000241391:P34L;ENSP00000339750:P34L;ENSP00000403869:P34L;ENSP00000400661:P34L	ENSP00000241391:P34L	P	-	2	0	GTDC1	144682718	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.320000	0.96346	1.569000	0.49696	-0.175000	0.13238	CCT	GTDC1	-	pfam_GlycosylTrfase_1_N		0.438	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	G	NM_024659		144966248	-1	no_errors	ENST00000344850	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144966248	G	A	144966248	3	1	160	1	0	0	0	0	1	0	0	0	6871	1000	35	4	1311	4	GTDC1	2	144966248	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3153532	144966248	98233125	297	28570										
ACVR2A	92	genome.wustl.edu	37	chr2	148674909	148674909	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtttgcctggaatgaagcatGagaacatattacagttcatt	9	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:148674909G>C	ENST00000241416.7	+	6	1366	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	ACVR2A_ENST00000535787.1_Missense_Mutation_p.E136Q|ACVR2A_ENST00000404590.1_Missense_Mutation_p.E244Q	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AATGAAGCATGAGAACATATT	0.378																																																	0													109	91	97					2																	148674909		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.730G>C	2.37:g.148674909G>C	ENSP00000241416:p.Glu244Gln		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.E244Q	ENST00000241416.7	37	c.730	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348769	0.82132	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93712	-3.27;-3.27;-3.27	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089490	0.85682	D	0.000000	D	0.92355	0.7574	L	0.41824	1.3	0.80722	D	1	P	0.36633	0.562	B	0.41946	0.371	D	0.92120	0.5703	10	0.62326	D	0.03	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	244	P27037	AVR2A_HUMAN	Q	244;136;244	ENSP00000241416:E244Q;ENSP00000439988:E136Q;ENSP00000384338:E244Q	ENSP00000241416:E244Q	E	+	1	0	ACVR2A	148391379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.702000	0.92279	0.655000	0.94253	GAG	ACVR2A	-	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		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148674909	1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	C	C	148674909	G	C	148674909	3	2	160	1	0	0	0	0	1	0	0	0	223	1291	45	1	752	1	ACVR2A	2	148674909	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3708661	148674909	94524464	298	28571										
KIF5C	3800	genome.wustl.edu	37	chr2	149837962	149837962	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagccaaggatgaggtgaaaGaagttctccaggccctggag	14	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149837962G>C	ENST00000435030.1	+	14	1824	c.1456G>C	c.(1456-1458)Gaa>Caa	p.E486Q	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.E391Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.E254Q			O60282	KIF5C_HUMAN	kinesin family member 5C	486					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGAGGTGAAAGAAGTTCTCCA	0.507																																																	0													47	50	49					2																	149837962		2122	4273	6395	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1456G>C	2.37:g.149837962G>C	ENSP00000393379:p.Glu486Gln		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E486Q	ENST00000435030.1	37	c.1456		2	.	.	.	.	.	.	.	.	.	.	G	32	5.123479	0.94429	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.83591	-1.74;-1.74;-1.74	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91758	0.7393	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.91887	0.5520	9	0.62326	D	0.03	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	486;52	O60282;Q3LIE3	KIF5C_HUMAN;.	Q	486;391;389;254	ENSP00000393379:E486Q;ENSP00000410115:E391Q;ENSP00000380560:E254Q	ENSP00000334176:E389Q	E	+	1	0	KIF5C	149546208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.805000	0.96524	0.655000	0.94253	GAA	KIF5C	-	NULL		0.507	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149837962	1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149837962	G	C	149837962	3	2	160	1	0	0	0	0	1	0	0	0	8327	943	33	1	1432	1	KIF5C	2	149837962	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1163053	149837962	93361411	299	28572			2	122		3	3	90	G		2.009147e-05
KIF5C	3800	genome.wustl.edu	37	chr2	149838030	149838030	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcacaggaagtggaggataaGacccgggccaatgagcagct	14	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149838030G>T	ENST00000435030.1	+	14	1892	c.1524G>T	c.(1522-1524)aaG>aaT	p.K508N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.K413N|KIF5C_ENST00000397413.1_Missense_Mutation_p.K276N			O60282	KIF5C_HUMAN	kinesin family member 5C	508					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGGAGGATAAGACCCGGGCCA	0.537																																																	0													35	39	37					2																	149838030		2106	4252	6358	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1524G>T	2.37:g.149838030G>T	ENSP00000393379:p.Lys508Asn		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K508N	ENST00000435030.1	37	c.1524		2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182809	0.78677	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.81996	-1.56;-1.56;-1.56	5.4	5.4	0.78164	.	0.163219	0.53938	D	0.000050	D	0.82305	0.5008	.	.	.	0.50039	D	0.999849	B;P	0.48998	0.246;0.918	B;P	0.48952	0.157;0.596	T	0.79579	-0.1745	9	0.30078	T	0.28	.	13.0597	0.59000	0.0827:0.0:0.9173:0.0	.	508;74	O60282;Q3LIE3	KIF5C_HUMAN;.	N	508;413;411;276	ENSP00000393379:K508N;ENSP00000410115:K413N;ENSP00000380560:K276N	ENSP00000334176:K411N	K	+	3	2	KIF5C	149546276	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.662000	0.46766	2.805000	0.96524	0.655000	0.94253	AAG	KIF5C	-	NULL		0.537	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149838030	1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	T	T	149838030	G	T	149838030	3	4	160	1	0	0	0	0	1	0	0	0	8327	933	33	3	1500	3	KIF5C	2	149838030	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	68	149838030	93361343	300	28573			2	122		3	3	90	G		2.009147e-05
KIF5C	3800	genome.wustl.edu	37	chr2	149838051	149838051	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acccgggccaatgagcagctGacagacgagctggcccagaa	13	13	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:149838051G>A	ENST00000435030.1	+	14	1913	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.L420L|KIF5C_ENST00000397413.1_Silent_p.L283L			O60282	KIF5C_HUMAN	kinesin family member 5C	515					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATGAGCAGCTGACAGACGAGC	0.512																																																	0													30	34	33					2																	149838051		2081	4236	6317	SO:0001819	synonymous_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1545G>A	2.37:g.149838051G>A			O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L515	ENST00000435030.1	37	c.1545		2																																																																																			KIF5C	-	NULL		0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149838051	1	no_errors	ENST00000435030	ensembl	human	known	70_37	silent	SNP	1.000	A	A	149838051	G	A	149838051	2	1	160	1	0	0	0	0	0	0	0	1	8327	1277	45	1		1	KIF5C	2	149838051	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	21	149838051	93361322	301	28574			2	122		3	3	90	G		2.009147e-05
RIF1	55183	genome.wustl.edu	37	chr2	152316615	152316616	+	Frame_Shift_Ins	INS	-	-	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaagaataaaaaagaaaatINSatgaaaccagcagccaaagt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152316615_152316616insA	ENST00000243326.5	+	25	3540_3541	c.3057_3058insA	c.(3058-3060)atgfs	p.M1020fs	RIF1_ENST00000444746.2_Frame_Shift_Ins_p.M1020fs|RIF1_ENST00000430328.2_Frame_Shift_Ins_p.M1020fs|RIF1_ENST00000428287.2_Frame_Shift_Ins_p.M1020fs|RIF1_ENST00000453091.2_Frame_Shift_Ins_p.M1020fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAAAGAAAATATGAAACCAGC	0.262																																																	0																																										SO:0001589	frameshift_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3058dupA	2.37:g.152316616_152316616dupA	ENSP00000243326:p.Met1020fs		A0AVS0|Q9NS16	Frame_Shift_Ins	INS	pfam_Rif1_N,superfamily_ARM-type_fold	p.M1019fs	ENST00000243326.5	37	c.3057_3058	CCDS2194.1	2																																																																																			RIF1	-	NULL		0.262	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	-			152316616	1	no_errors	ENST00000243326	ensembl	human	known	70_37	frame_shift_ins	INS	0.455:0.405	A	A	152316616	-	A	152316615	7	5	160	1	0	1	1	0	0	0	0	0	13389	1403	49	0	3155	0	RIF1	2	152316615	Frame_Shift_Ins	INS	-	TCGA-JW-A5VL-01A-11D-A28B-09	2478564	152316615	90882758	302	28575	178	2								
RIF1	55183	genome.wustl.edu	37	chr2	152316618	152316618	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaataaaaaagaaaatatGaaaccagcagccaaagtatg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152316618G>A	ENST00000243326.5	+	25	3543	c.3060G>A	c.(3058-3060)atG>atA	p.M1020I	RIF1_ENST00000444746.2_Missense_Mutation_p.M1020I|RIF1_ENST00000430328.2_Missense_Mutation_p.M1020I|RIF1_ENST00000428287.2_Missense_Mutation_p.M1020I|RIF1_ENST00000453091.2_Missense_Mutation_p.M1020I			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAAAATATGAAACCAGCAG	0.259																																																	0													23	25	25					2																	152316618		2174	4274	6448	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3060G>A	2.37:g.152316618G>A	ENSP00000243326:p.Met1020Ile		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.M1020I	ENST00000243326.5	37	c.3060	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	4.791	0.147158	0.09134	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.78	2.49	0.30216	.	1.060310	0.07151	N	0.849172	T	0.25754	0.0627	L	0.44542	1.39	0.27295	N	0.95774	B;B	0.25904	0.0;0.137	B;B	0.18561	0.002;0.022	T	0.22906	-1.0203	10	0.34782	T	0.22	-1.1439	7.6799	0.28507	0.1724:0.1412:0.6864:0.0	.	1020;1020	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	I	1020	ENSP00000390181:M1020I;ENSP00000414615:M1020I;ENSP00000415691:M1020I;ENSP00000243326:M1020I;ENSP00000416123:M1020I	ENSP00000243326:M1020I	M	+	3	0	RIF1	152024864	0.005000	0.15991	0.082000	0.20525	0.363000	0.29612	1.164000	0.31810	0.753000	0.32945	0.555000	0.69702	ATG	RIF1	-	NULL		0.259	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152316618	1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	0.413	A	A	152316618	G	A	152316618	3	1	160	1	0	0	0	0	1	0	0	0	13389	1290	45	1	3158	1	RIF1	2	152316618	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3	152316618	90882755	303	28576	178	2								
NEB	4703	genome.wustl.edu	37	chr2	152375533	152375533	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcatgatcagagactccttCatgtcagtcacgggtttgtg	10	9	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152375533C>T	ENST00000172853.10	-	127	17685	c.17538G>A	c.(17536-17538)atG>atA	p.M5846I	NEB_ENST00000427231.2_Missense_Mutation_p.M7547I|NEB_ENST00000603639.1_Missense_Mutation_p.M7547I|NEB_ENST00000604864.1_Missense_Mutation_p.M7547I|NEB_ENST00000397345.3_Missense_Mutation_p.M7547I|NEB_ENST00000409198.1_Missense_Mutation_p.M5846I			P20929	NEBU_HUMAN	nebulin	5846					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGACTCCTTCATGTCAGTCA	0.418																																																	0			GRCh37	CD991810	NEB	D							152	141	145					2																	152375533		1900	4111	6011	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17538G>A	2.37:g.152375533C>T	ENSP00000172853:p.Met5846Ile		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.M7547I	ENST00000172853.10	37	c.22641		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769910	0.90020	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06371	3.43;3.41;3.42;3.31;3.43	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	M	0.65975	2.015	0.80722	D	1	D;D;P	0.56521	0.96;0.976;0.888	D;D;P	0.75484	0.968;0.986;0.746	T	0.01464	-1.1348	10	0.15499	T	0.54	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	5846;7547;2277	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	I	5846;7547;7547;1895;2277;5846	ENSP00000386259:M5846I;ENSP00000380505:M7547I;ENSP00000416578:M7547I;ENSP00000410961:M2277I;ENSP00000172853:M5846I	ENSP00000172853:M5846I	M	-	3	0	NEB	152083779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	ATG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152375533	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152375533	C	T	152375533	3	4	160	1	0	0	0	0	1	0	0	0	10326	826	29	1	3048	1	NEB	2	152375533	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	58915	152375533	90823840	304	28577										
NEB	4703	genome.wustl.edu	37	chr2	152375560	152375560	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcacgggtttgtgaagtttCttcaggtcagccttgtattt	11	7	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152375560C>G	ENST00000172853.10	-	127	17658	c.17511G>C	c.(17509-17511)aaG>aaC	p.K5837N	NEB_ENST00000427231.2_Missense_Mutation_p.K7538N|NEB_ENST00000603639.1_Missense_Mutation_p.K7538N|NEB_ENST00000604864.1_Missense_Mutation_p.K7538N|NEB_ENST00000397345.3_Missense_Mutation_p.K7538N|NEB_ENST00000409198.1_Missense_Mutation_p.K5837N			P20929	NEBU_HUMAN	nebulin	5837					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGAAGTTTCTTCAGGTCAG	0.413																																																	0													137	128	131					2																	152375560		1906	4110	6016	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17511G>C	2.37:g.152375560C>G	ENSP00000172853:p.Lys5837Asn		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K7538N	ENST00000172853.10	37	c.22614		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.548964|4.548964	0.86127|0.86127	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.08193|.	3.27;3.25;3.26;3.12;3.27|.	5.91|5.91	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60843|0.60843	0.2300|0.2300	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.997|.	D;D;D|.	0.91635|.	0.998;0.999;0.989|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|5	0.48119|.	T|.	0.1|.	.|.	15.0877|15.0877	0.72167|0.72167	0.0:0.9322:0.0:0.0678|0.0:0.9322:0.0:0.0678	.|.	5837;7538;2268|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	N|T	5837;7538;7538;1886;2268;5837|161	ENSP00000386259:K5837N;ENSP00000380505:K7538N;ENSP00000416578:K7538N;ENSP00000410961:K2268N;ENSP00000172853:K5837N|.	ENSP00000172853:K5837N|.	K|R	-|-	3|2	2|0	NEB|NEB	152083806|152083806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	3.355000|3.355000	0.52262|0.52262	1.508000|1.508000	0.48769|0.48769	0.655000|0.655000	0.94253|0.94253	AAG|AGA	NEB	-	smart_Nebulin_35r-motif		0.413	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152375560	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152375560	C	G	152375560	3	3	160	1	0	0	0	0	1	0	0	0	10326	912	32	1	3075	1	NEB	2	152375560	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	27	152375560	90823813	305	28578										
NEB	4703	genome.wustl.edu	37	chr2	152472557	152472557	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agccttggctgcttggattgGaatggcatccagacgcaagt	13	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152472557G>C	ENST00000172853.10	-	72	10666	c.10519C>G	c.(10519-10521)Cca>Gca	p.P3507A	NEB_ENST00000427231.2_Missense_Mutation_p.P3750A|NEB_ENST00000603639.1_Missense_Mutation_p.P3750A|NEB_ENST00000604864.1_Missense_Mutation_p.P3750A|NEB_ENST00000397345.3_Missense_Mutation_p.P3750A|NEB_ENST00000409198.1_Missense_Mutation_p.P3507A			P20929	NEBU_HUMAN	nebulin	3507					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTGGATTGGAATGGCATCC	0.383																																																	0													73	73	73					2																	152472557		1856	4100	5956	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10519C>G	2.37:g.152472557G>C	ENSP00000172853:p.Pro3507Ala		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P3750A	ENST00000172853.10	37	c.11248		2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681453	0.68042	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.25	5.25	0.73442	.	0.130978	0.53938	D	0.000058	T	0.60945	0.2308	M	0.90082	3.085	0.80722	D	1	B	0.19200	0.034	B	0.28305	0.088	T	0.62492	-0.6843	10	0.40728	T	0.16	.	17.9894	0.89164	0.0:0.0:1.0:0.0	.	3507	P20929	NEBU_HUMAN	A	3507;3750;3750;3507	ENSP00000386259:P3507A;ENSP00000380505:P3750A;ENSP00000416578:P3750A;ENSP00000172853:P3507A	ENSP00000172853:P3507A	P	-	1	0	NEB	152180803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.377000	0.52425	2.602000	0.87976	0.650000	0.86243	CCA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152472557	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152472557	G	C	152472557	3	2	160	1	0	0	0	0	1	0	0	0	10326	1174	41	1	14866	1	NEB	2	152472557	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	96997	152472557	90726816	306	28579										
NEB	4703	genome.wustl.edu	37	chr2	152499129	152499129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccttggctgccttgatagGaatggcatctacccgcatgt	12	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152499129G>C	ENST00000172853.10	-	60	8479	c.8332C>G	c.(8332-8334)Cct>Gct	p.P2778A	NEB_ENST00000427231.2_Missense_Mutation_p.P2778A|NEB_ENST00000603639.1_Missense_Mutation_p.P2778A|NEB_ENST00000604864.1_Missense_Mutation_p.P2778A|NEB_ENST00000397345.3_Missense_Mutation_p.P2778A|NEB_ENST00000409198.1_Missense_Mutation_p.P2778A			P20929	NEBU_HUMAN	nebulin	2778					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTTGATAGGAATGGCATCT	0.378																																																	0													84	82	83					2																	152499129		1888	4110	5998	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8332C>G	2.37:g.152499129G>C	ENSP00000172853:p.Pro2778Ala		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P2778A	ENST00000172853.10	37	c.8332		2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163943	0.57476	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47177	0.85;3.46;3.46;0.85	6.17	6.17	0.99709	.	0.056605	0.64402	D	0.000001	T	0.66538	0.2799	M	0.82630	2.6	0.80722	D	1	P	0.46220	0.874	P	0.57620	0.824	T	0.63954	-0.6520	10	0.33940	T	0.23	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	2778	P20929	NEBU_HUMAN	A	2778	ENSP00000386259:P2778A;ENSP00000380505:P2778A;ENSP00000416578:P2778A;ENSP00000172853:P2778A	ENSP00000172853:P2778A	P	-	1	0	NEB	152207375	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.950000	0.40323	2.941000	0.99782	0.655000	0.94253	CCT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.378	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152499129	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152499129	G	C	152499129	3	2	160	1	0	0	0	0	1	0	0	0	10326	1174	41	1	17846	1	NEB	2	152499129	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	26572	152499129	90700244	307	28580										
NEB	4703	genome.wustl.edu	37	chr2	152544883	152544883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatatggcacttgaacttctCaccttcatgttttgctttgt	6	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152544883C>T	ENST00000172853.10	-	25	2485	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	NEB_ENST00000427231.2_Missense_Mutation_p.E780K|NEB_ENST00000603639.1_Missense_Mutation_p.E780K|NEB_ENST00000604864.1_Missense_Mutation_p.E780K|NEB_ENST00000397345.3_Missense_Mutation_p.E780K|NEB_ENST00000409198.1_Missense_Mutation_p.E780K			P20929	NEBU_HUMAN	nebulin	780					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGAACTTCTCACCTTCATGT	0.388																																																	0													153	146	148					2																	152544883		1915	4129	6044	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2338G>A	2.37:g.152544883C>T	ENSP00000172853:p.Glu780Lys		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E780K	ENST00000172853.10	37	c.2338		2	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925311	0.73213	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05786	3.4;3.41;3.41;3.39	5.71	5.71	0.89125	.	0.325658	0.28828	N	0.014003	T	0.10078	0.0247	L	0.51422	1.61	0.80722	D	1	P	0.51449	0.945	P	0.47528	0.549	T	0.16276	-1.0408	10	0.07030	T	0.85	.	16.7855	0.85573	0.0:1.0:0.0:0.0	.	780	P20929	NEBU_HUMAN	K	780	ENSP00000386259:E780K;ENSP00000380505:E780K;ENSP00000416578:E780K;ENSP00000172853:E780K	ENSP00000172853:E780K	E	-	1	0	NEB	152253129	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.689000	0.91719	0.563000	0.77884	GAG	NEB	-	pfscan_Nebulin_35r-motif		0.388	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152544883	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152544883	C	T	152544883	3	4	160	1	0	0	0	0	1	0	0	0	10326	835	29	1	23980	1	NEB	2	152544883	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	45754	152544883	90654490	308	28581										
NEB	4703	genome.wustl.edu	37	chr2	152581994	152581994	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttgatcttgtacttttttGattctgcgaagttctggagt	10	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:152581994G>C	ENST00000172853.10	-	6	522	c.375C>G	c.(373-375)atC>atG	p.I125M	NEB_ENST00000427231.2_Missense_Mutation_p.I125M|NEB_ENST00000603639.1_Missense_Mutation_p.I125M|NEB_ENST00000604864.1_Missense_Mutation_p.I125M|NEB_ENST00000397345.3_Missense_Mutation_p.I125M|NEB_ENST00000409198.1_Missense_Mutation_p.I125M			P20929	NEBU_HUMAN	nebulin	125					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTTTTTGATTCTGCGAA	0.398																																																	0													207	206	206					2																	152581994		1914	4116	6030	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.375C>G	2.37:g.152581994G>C	ENSP00000172853:p.Ile125Met		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I125M	ENST00000172853.10	37	c.375		2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092932	0.76756	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.17	6.17	0.99709	.	0.054849	0.64402	D	0.000001	T	0.61800	0.2376	L	0.53780	1.695	0.80722	D	1	P	0.51240	0.943	D	0.64410	0.925	T	0.55755	-0.8091	10	0.37606	T	0.19	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	125	P20929	NEBU_HUMAN	M	125	ENSP00000386259:I125M;ENSP00000380505:I125M;ENSP00000416578:I125M;ENSP00000172853:I125M	ENSP00000172853:I125M	I	-	3	3	NEB	152290240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.181000	0.65054	2.941000	0.99782	0.655000	0.94253	ATC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.398	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152581994	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152581994	G	C	152581994	3	2	160	1	0	0	0	0	1	0	0	0	10326	1280	45	1	26019	1	NEB	2	152581994	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	37111	152581994	90617379	309	28582										
ERMN	57471	genome.wustl.edu	37	chr2	158182121	158182121	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtttatccccattacactCagcctgggtaaatgtagccg	9	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:158182121C>G	ENST00000410096.1	-	1	325	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	ERMN_ENST00000535935.1_5'Flank|ERMN_ENST00000409216.1_Missense_Mutation_p.E12Q|ERMN_ENST00000420719.2_Missense_Mutation_p.E12Q|ERMN_ENST00000409925.1_Missense_Mutation_p.E12Q|ERMN_ENST00000397283.2_Missense_Mutation_p.E25Q	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	12					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CCATTACACTCAGCCTGGGTA	0.468																																																	0													191	173	179					2																	158182121		1902	4116	6018	SO:0001583	missense	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.34G>C	2.37:g.158182121C>G	ENSP00000387047:p.Glu12Gln		B4DKA6|Q9ULN1	Missense_Mutation	SNP	superfamily_Moesin	p.E25Q	ENST00000410096.1	37	c.73	CCDS46431.1	2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530142	0.45073	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000420719;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	T;T	0.60040	0.22;0.22	5.64	3.84	0.44239	.	0.179652	0.38837	N	0.001551	T	0.53061	0.1773	L	0.32530	0.975	0.21416	N	0.999692	P;P;P	0.51351	0.944;0.944;0.944	P;P;P	0.50617	0.646;0.646;0.646	T	0.46247	-0.9205	10	0.62326	D	0.03	-20.0912	8.9871	0.36001	0.0:0.7716:0.1484:0.0799	.	12;25;12	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	Q	12;25;12;12;12;12;12;12	ENSP00000387049:E12Q;ENSP00000387325:E12Q	ENSP00000380453:E25Q	E	-	1	0	ERMN	157890367	0.995000	0.38212	0.019000	0.16419	0.362000	0.29581	4.612000	0.61169	0.724000	0.32296	0.557000	0.71058	GAG	ERMN	-	NULL		0.468	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	HGNC	protein_coding	OTTHUMT00000332659.1	C	NM_001009959		158182121	-1	no_errors	ENST00000397283	ensembl	human	known	70_37	missense	SNP	0.061	G	G	158182121	C	G	158182121	3	3	160	1	0	0	0	0	1	0	0	0	5247	835	29	1	832	1	ERMN	2	158182121	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5600127	158182121	85017252	310	28583										
TANC1	85461	genome.wustl.edu	37	chr2	160019895	160019895	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggttcagaagggagtgcttCatgaccgcagggcagataac	15	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:160019895C>T	ENST00000263635.6	+	8	1021	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	TANC1_ENST00000454300.1_Missense_Mutation_p.H156Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	262					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGAGTGCTTCATGACCGCAG	0.517																																																	0													74	79	77					2																	160019895		1963	4144	6107	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.784C>T	2.37:g.160019895C>T	ENSP00000263635:p.His262Tyr		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.H262Y	ENST00000263635.6	37	c.784	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210163	0.58343	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70516	-0.49;-0.47	6.04	6.04	0.98038	.	0.197609	0.53938	D	0.000042	T	0.67951	0.2948	M	0.62723	1.935	0.45946	D	0.998773	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.61178	-0.7115	10	0.32370	T	0.25	.	14.7083	0.69208	0.0:0.9314:0.0:0.0686	.	261;262	B9EK39;Q9C0D5	.;TANC1_HUMAN	Y	156;262	ENSP00000396339:H156Y;ENSP00000263635:H262Y	ENSP00000263635:H262Y	H	+	1	0	TANC1	159728141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.797000	0.62503	2.873000	0.98535	0.563000	0.77884	CAT	TANC1	-	NULL		0.517	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	C			160019895	1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	T	T	160019895	C	T	160019895	3	4	160	1	0	0	0	0	1	0	0	0	15574	826	29	1	806	1	TANC1	2	160019895	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1837774	160019895	83179478	311	28584										
TANC1	85461	genome.wustl.edu	37	chr2	160080864	160080864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtggcgctactcagaaaggGagccaagttaggtcagtgag	16	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:160080864G>A	ENST00000263635.6	+	23	4037	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	TANC1_ENST00000454300.1_Missense_Mutation_p.G1161E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1267					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCAGAAAGGGAGCCAAGTTA	0.597																																																	0													50	57	55					2																	160080864		2130	4226	6356	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3800G>A	2.37:g.160080864G>A	ENSP00000263635:p.Gly1267Glu		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1267E	ENST00000263635.6	37	c.3800	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932638	0.92458	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.26957	1.7;1.7	5.08	5.08	0.68730	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.65796	-0.6081	10	0.87932	D	0	.	18.4903	0.90844	0.0:0.0:1.0:0.0	.	1259;1161;1267	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	E	1161;1267	ENSP00000396339:G1161E;ENSP00000263635:G1267E	ENSP00000263635:G1267E	G	+	2	0	TANC1	159789110	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.005000	0.88553	2.359000	0.80004	0.563000	0.77884	GGA	TANC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160080864	1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160080864	G	A	160080864	3	1	160	1	0	0	0	0	1	0	0	0	15574	1174	41	1	3882	1	TANC1	2	160080864	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	60969	160080864	83118509	312	28585										
LY75	4065	genome.wustl.edu	37	chr2	160755557	160755557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtatttccatggacgatggtGaaggggtcattagctgagtc	14	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:160755557G>A	ENST00000263636.4	-	2	135	c.108C>T	c.(106-108)ttC>ttT	p.F36F	LY75-CD302_ENST00000505052.1_Silent_p.F36F|LY75_ENST00000554112.1_Silent_p.F36F|LY75_ENST00000553424.1_Silent_p.F36F|LY75-CD302_ENST00000504764.1_Silent_p.F36F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	36	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGACGATGGTGAAGGGGTCAT	0.498																																																	0													156	150	152					2																	160755557		2203	4300	6503	SO:0001819	synonymous_variant	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.108C>T	2.37:g.160755557G>A			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.F36	ENST00000263636.4	37	c.108	CCDS2211.1	2																																																																																			LY75	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.498	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	G			160755557	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	silent	SNP	1.000	A	A	160755557	G	A	160755557	2	1	160	1	0	0	0	0	0	0	0	1	9122	1281	45	1		1	LY75	2	160755557	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	674693	160755557	82443816	313	28586										
ITGB6	3694	genome.wustl.edu	37	chr2	161029180	161029180	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctgtccattccaaaatgaGaatcagcatcactcacaaag	6	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:161029180G>C	ENST00000283249.2	-	6	1058	c.821C>G	c.(820-822)tCt>tGt	p.S274C	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.S274C|ITGB6_ENST00000428609.2_Missense_Mutation_p.S232C|ITGB6_ENST00000409967.2_Missense_Mutation_p.S274C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	274	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAAAATGAGAATCAGCATC	0.453																																																	0													168	156	160					2																	161029180		2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.821C>G	2.37:g.161029180G>C	ENSP00000283249:p.Ser274Cys		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.S274C	ENST00000283249.2	37	c.821	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766757	0.90020	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	5.49	5.49	0.81192	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99568	1.0970	10	0.66056	D	0.02	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	232;274	E9PEE8;P18564	.;ITB6_HUMAN	C	274;232;274;274	ENSP00000283249:S274C;ENSP00000408024:S232C;ENSP00000386828:S274C;ENSP00000386367:S274C	ENSP00000283249:S274C	S	-	2	0	ITGB6	160737426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.718000	0.92993	0.655000	0.94253	TCT	ITGB6	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	G	NM_000888		161029180	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	missense	SNP	1.000	C	C	161029180	G	C	161029180	3	2	160	1	0	0	0	0	1	0	0	0	7919	942	33	1	1585	1	ITGB6	2	161029180	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	273623	161029180	82170193	314	28587										
RBMS1	5937	genome.wustl.edu	37	chr2	161157214	161157214	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccattaaaatgaccaataacAgcttcacatttttctgttga	4	9	2	2	rs535279847	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:161157214A>G	ENST00000348849.3	-	6	1018	c.588T>C	c.(586-588)gcT>gcC	p.A196A	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.A163A|RBMS1_ENST00000409972.1_Silent_p.A163A|RBMS1_ENST00000409075.1_Silent_p.A163A|RBMS1_ENST00000392753.3_Silent_p.A196A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	196	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GACCAATAACAGCTTCACATT	0.294																																																	0													60	62	62					2																	161157214		2203	4297	6500	SO:0001819	synonymous_variant	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.588T>C	2.37:g.161157214A>G			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.A196	ENST00000348849.3	37	c.588	CCDS2213.1	2																																																																																			RBMS1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.294	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	A	NM_016836		161157214	-1	no_errors	ENST00000392753	ensembl	human	known	70_37	silent	SNP	0.889	G	G	161157214	A	G	161157214	2	3	160	1	0	0	0	0	0	0	0	1	13178	175	7	5		5	RBMS1	2	161157214	Silent	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	128034	161157214	82042159	315	28588										
TBR1	10716	genome.wustl.edu	37	chr2	162280548	162280548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggatcgagacgccctcctCgatcaagtccatcgactcca	8	16	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:162280548C>T	ENST00000389554.3	+	6	2176	c.1859C>T	c.(1858-1860)tCg>tTg	p.S620L	AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.S333L|AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	620					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACGCCCTCCTCGATCAAGTCC	0.706																																																	0													17	18	17					2																	162280548		2201	4297	6498	SO:0001583	missense	10716			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1859C>T	2.37:g.162280548C>T	ENSP00000374205:p.Ser620Leu		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S620L	ENST00000389554.3	37	c.1859	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331571	0.81690	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000410035	D;D	0.92858	-3.12;-2.32	4.24	4.24	0.50183	.	0.061316	0.64402	D	0.000002	D	0.95459	0.8525	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96060	0.9038	10	0.72032	D	0.01	.	16.8311	0.85944	0.0:1.0:0.0:0.0	.	620	Q16650	TBR1_HUMAN	L	620;289;333	ENSP00000374205:S620L;ENSP00000387023:S333L	ENSP00000374205:S620L	S	+	2	0	TBR1	161988794	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.702000	0.68332	2.193000	0.70182	0.313000	0.20887	TCG	TBR1	-	NULL		0.706	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	C	NM_006593		162280548	1	no_errors	ENST00000389554	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162280548	C	T	162280548	3	4	160	1	0	0	0	0	1	0	0	0	15677	893	31	1	1881	1	TBR1	2	162280548	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1123334	162280548	80918825	316	28589										
FAP	2191	genome.wustl.edu	37	chr2	163070562	163070562	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgttcatcagtaacccacgtGagccaactgaaataataatc	6	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:163070562G>A	ENST00000188790.4	-	11	1095	c.888C>T	c.(886-888)ctC>ctT	p.L296L	FAP_ENST00000443424.1_Silent_p.L271L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAACCCACGTGAGCCAACTGA	0.368																																																	0													77	74	75					2																	163070562		2203	4300	6503	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.888C>T	2.37:g.163070562G>A				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L296	ENST00000188790.4	37	c.888	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9B		0.368	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163070562	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	silent	SNP	0.951	A	A	163070562	G	A	163070562	2	1	160	1	0	0	0	0	0	0	0	1	5691	1277	45	1		1	FAP	2	163070562	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	790014	163070562	80128811	317	28590										
FIGN	55137	genome.wustl.edu	37	chr2	164466975	164466975	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttcagttgctcgtccacaGagtggttggatgaggtagct	13	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:164466975G>A	ENST00000333129.3	-	3	1681	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	456					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTCGTCCACAGAGTGGTTGGA	0.537																																																	0													117	116	116					2																	164466975		2137	4246	6383	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1367C>T	2.37:g.164466975G>A	ENSP00000333836:p.Ser456Phe		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S456F	ENST00000333129.3	37	c.1367	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470167	0.63625	.	.	ENSG00000182263	ENST00000333129	D	0.92699	-3.09	5.9	5.9	0.94986	.	0.226091	0.46758	D	0.000261	D	0.91116	0.7203	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.52672	0.706	D	0.92115	0.5699	10	0.72032	D	0.01	-10.708	20.2723	0.98479	0.0:0.0:1.0:0.0	.	456	Q5HY92	FIGN_HUMAN	F	456	ENSP00000333836:S456F	ENSP00000333836:S456F	S	-	2	0	FIGN	164175221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	TCT	FIGN	-	NULL		0.537	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164466975	-1	no_errors	ENST00000333129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	164466975	G	A	164466975	3	1	160	1	0	0	0	0	1	0	0	0	5909	942	33	1	916	1	FIGN	2	164466975	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1396413	164466975	78732398	318	28591										
SCN3A	6328	genome.wustl.edu	37	chr2	165947650	165947650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaaagttggacatcccaaaGatggcatagataaacatgac	9	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:165947650G>C	ENST00000360093.3	-	28	5504	c.5013C>G	c.(5011-5013)atC>atG	p.I1671M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1622M|SCN3A_ENST00000540861.1_Missense_Mutation_p.I154M|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1671M|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1671					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATCCCAAAGATGGCATAGA	0.453																																																	0													154	149	151					2																	165947650		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5013C>G	2.37:g.165947650G>C	ENSP00000353206:p.Ile1671Met		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.I1671M	ENST00000360093.3	37	c.5013		2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259618	0.39995	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.85	4.96	0.65561	.	0.000000	0.64402	D	0.000006	D	0.99309	0.9758	H	0.97540	4.025	0.47778	D	0.999519	D;D;D	0.76494	0.997;0.976;0.999	D;P;D	0.80764	0.994;0.869;0.981	D	0.99364	1.0918	10	0.87932	D	0	.	6.2993	0.21103	0.1519:0.0:0.6631:0.185	.	1622;1622;1671	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1671;1671;1622;154	ENSP00000353206:I1671M;ENSP00000283254:I1671M;ENSP00000386726:I1622M;ENSP00000439920:I154M	ENSP00000283254:I1671M	I	-	3	3	SCN3A	165655896	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.524000	0.45589	1.467000	0.48044	0.580000	0.79431	ATC	SCN3A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		G	NM_006922		165947650	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	C	C	165947650	G	C	165947650	3	2	160	1	0	0	0	0	1	0	0	0	13948	932	33	1	993	1	SCN3A	2	165947650	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1480675	165947650	77251723	319	28592										
TTC21B	79809	genome.wustl.edu	37	chr2	166740408	166740408	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaactcttctcaaactcttCagcatcaatagcattccaat	2	14	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:166740408C>T	ENST00000243344.7	-	26	3717	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	TTC21B_ENST00000536175.1_Missense_Mutation_p.E132K	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1194					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAAACTCTTCAGCATCAATA	0.423																																																	0													174	171	172					2																	166740408		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3580G>A	2.37:g.166740408C>T	ENSP00000243344:p.Glu1194Lys		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1194K	ENST00000243344.7	37	c.3580	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.736328	0.96865	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.66099	-0.19;0.06	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.090054	0.85682	D	0.000000	T	0.72342	0.3448	M	0.82630	2.6	0.80722	D	1	P	0.41313	0.745	B	0.44278	0.445	T	0.73616	-0.3926	10	0.40728	T	0.16	-13.499	19.6951	0.96022	0.0:1.0:0.0:0.0	.	1194	Q7Z4L5	TT21B_HUMAN	K	132;1194	ENSP00000438692:E132K;ENSP00000243344:E1194K	ENSP00000243344:E1194K	E	-	1	0	TTC21B	166448654	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.776000	0.85560	2.728000	0.93425	0.585000	0.79938	GAA	TTC21B	-	pfscan_TPR-contain_dom		0.423	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	C	NM_024753		166740408	-1	no_errors	ENST00000243344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	166740408	C	T	166740408	3	4	160	1	0	0	0	0	1	0	0	0	16719	835	29	1	386	1	TTC21B	2	166740408	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	792758	166740408	76458965	320	28593										
SCN9A	6335	genome.wustl.edu	37	chr2	167141147	167141147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggctgatgttactgctgcgtCgctcctggggtctgtggggc	17	10	1	1	rs200821646		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167141147C>G	ENST00000409435.1	-	11	1789	c.1790G>C	c.(1789-1791)cGa>cCa	p.R597P	SCN9A_ENST00000375387.4_Missense_Mutation_p.R598P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R598P|SCN9A_ENST00000409672.1_Missense_Mutation_p.R597P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	597					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGCTGCGTCGCTCCTGGGG	0.547																																																	0													95	101	99					2																	167141147		2141	4259	6400	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1790G>C	2.37:g.167141147C>G	ENSP00000386330:p.Arg597Pro		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R598P	ENST00000409435.1	37	c.1793	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935556	0.34189	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.64	4.76	0.60689	Domain of unknown function DUF3451 (1);	0.000000	0.53938	D	0.000041	D	0.95255	0.8461	M	0.84219	2.685	0.50467	D	0.999871	P;D;P	0.56521	0.902;0.976;0.48	B;P;B	0.57720	0.409;0.826;0.43	D	0.95711	0.8758	10	0.72032	D	0.01	.	14.86	0.70372	0.0:0.9309:0.0:0.0691	.	597;597;598	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	P	597;598;598;597;462;462	ENSP00000386306:R597P;ENSP00000364536:R598P;ENSP00000304748:R598P;ENSP00000386330:R597P;ENSP00000413212:R462P;ENSP00000393141:R462P	ENSP00000304748:R598P	R	-	2	0	SCN9A	166849393	0.836000	0.29430	1.000000	0.80357	0.346000	0.29079	3.569000	0.53827	1.524000	0.49035	-0.259000	0.10710	CGA	SCN9A	-	pfam_DUF3451		0.547	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167141147	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	1.000	G	G	167141147	C	G	167141147	3	3	160	1	0	0	0	0	1	0	0	0	13955	884	31	1	4207	1	SCN9A	2	167141147	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	400739	167141147	76058226	321	28594										
SCN9A	6335	genome.wustl.edu	37	chr2	167142954	167142954	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gattctgatttcgacaatttCtcagcatctcccttttcctc	4	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167142954C>T	ENST00000409435.1	-	10	1493	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	SCN9A_ENST00000375387.4_Silent_p.E499E|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.E499E|SCN9A_ENST00000409672.1_Silent_p.E498E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	498					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCGACAATTTCTCAGCATCTC	0.423																																																	0													154	146	148					2																	167142954		1900	4112	6012	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1494G>A	2.37:g.167142954C>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E499	ENST00000409435.1	37	c.1497	CCDS46441.1	2																																																																																			SCN9A	-	pfam_DUF3451		0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167142954	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	silent	SNP	0.999	T	T	167142954	C	T	167142954	2	4	160	1	0	0	0	0	0	0	0	1	13955	912	32	1		1	SCN9A	2	167142954	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1807	167142954	76056419	322	28595										
SCN9A	6335	genome.wustl.edu	37	chr2	167143087	167143087	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctctgagaggcccataattCtgcttctcctaatacttgta					rs199825426		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167143087C>T	ENST00000409435.1	-	10	1360	c.1361G>A	c.(1360-1362)aGa>aAa	p.R454K	SCN9A_ENST00000375387.4_Missense_Mutation_p.R455K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R455K|SCN9A_ENST00000409672.1_Missense_Mutation_p.R454K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	454					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCCATAATTCTGCTTCTCCT	0.398																																																	0													34	31	32					2																	167143087		1836	4081	5917	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1361G>A	2.37:g.167143087C>T	ENSP00000386330:p.Arg454Lys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R455K	ENST00000409435.1	37	c.1364	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186504	0.21870	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.95724	-3.75;-3.78;-3.78;-3.79;-0.29;-0.29	5.71	3.59	0.41128	.	0.690842	0.14067	N	0.343630	D	0.89966	0.6868	N	0.14661	0.345	0.24101	N	0.99588	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.82212	-0.0569	10	0.45353	T	0.12	.	13.2243	0.59907	0.0:0.8491:0.0:0.1509	.	454;454;455	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	454;455;455;454;319;319	ENSP00000386306:R454K;ENSP00000364536:R455K;ENSP00000304748:R455K;ENSP00000386330:R454K;ENSP00000413212:R319K;ENSP00000393141:R319K	ENSP00000304748:R455K	R	-	2	0	SCN9A	166851333	0.191000	0.23288	0.897000	0.35233	0.995000	0.86356	1.145000	0.31577	1.418000	0.47098	0.585000	0.79938	AGA	SCN9A	-	NULL		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167143087	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	0.875	T	T	167143087	C	T	167143087	3	4	160	1	0	0	0	0	1	0	0	0	13955	913	32	1	4640	1	SCN9A	2	167143087	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133	167143087	76056286	323	28596	179	2								
SCN9A	6335	genome.wustl.edu	37	chr2	167143093	167143093	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaggcccataattctgcttCtcctaatacttgtatattca							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:167143093C>T	ENST00000409435.1	-	10	1354	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	SCN9A_ENST00000375387.4_Missense_Mutation_p.R453K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R453K|SCN9A_ENST00000409672.1_Missense_Mutation_p.R452K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	452					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTCTGCTTCTCCTAATACT	0.408																																																	0													31	29	29					2																	167143093		1840	4084	5924	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1355G>A	2.37:g.167143093C>T	ENSP00000386330:p.Arg452Lys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R453K	ENST00000409435.1	37	c.1358	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132048	0.21041	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.95885	-3.81;-3.84;-3.84;-3.83;-0.34;-0.34	5.41	4.54	0.55810	.	0.198044	0.35436	N	0.003217	D	0.86464	0.5939	N	0.08118	0	0.25944	N	0.982834	B;B;B	0.14012	0.002;0.004;0.009	B;B;B	0.17098	0.002;0.012;0.017	T	0.71984	-0.4427	10	0.07644	T	0.81	.	9.413	0.38503	0.1753:0.7476:0.0:0.077	.	452;452;453	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	452;453;453;452;317;317	ENSP00000386306:R452K;ENSP00000364536:R453K;ENSP00000304748:R453K;ENSP00000386330:R452K;ENSP00000413212:R317K;ENSP00000393141:R317K	ENSP00000304748:R453K	R	-	2	0	SCN9A	166851339	0.252000	0.23972	0.877000	0.34402	0.988000	0.76386	0.626000	0.24492	1.420000	0.47138	0.585000	0.79938	AGA	SCN9A	-	NULL		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167143093	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	0.830	T	T	167143093	C	T	167143093	3	4	160	1	0	0	0	0	1	0	0	0	13955	913	32	1	4646	1	SCN9A	2	167143093	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6	167143093	76056280	324	28597	179	2								
LRP2	4036	genome.wustl.edu	37	chr2	170131735	170131735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaatgagggagcctccatGaactacagtcttcctgttat	10	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170131735G>A	ENST00000263816.3	-	14	2071	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y	LRP2_ENST00000443831.1_Missense_Mutation_p.H527Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	596					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GAGCCTCCATGAACTACAGTC	0.363																																																	0													93	81	85					2																	170131735		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1786C>T	2.37:g.170131735G>A	ENSP00000263816:p.His596Tyr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H596Y	ENST00000263816.3	37	c.1786	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033466	0.35893	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91011	-2.77;-2.76	5.97	1.93	0.25924	Six-bladed beta-propeller, TolB-like (1);	0.524946	0.23642	N	0.046012	D	0.89825	0.6827	L	0.43701	1.375	0.31592	N	0.653823	P;P	0.48294	0.908;0.888	P;B	0.49853	0.624;0.443	D	0.89173	0.3538	10	0.62326	D	0.03	.	15.5324	0.75974	0.0:0.0:0.5255:0.4745	.	527;596	E9PC35;P98164	.;LRP2_HUMAN	Y	596;527	ENSP00000263816:H596Y;ENSP00000409813:H527Y	ENSP00000263816:H596Y	H	-	1	0	LRP2	169839981	1.000000	0.71417	0.001000	0.08648	0.550000	0.35303	3.766000	0.55280	0.065000	0.16485	0.655000	0.94253	CAT	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170131735	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.886	A	A	170131735	G	A	170131735	3	1	160	1	0	0	0	0	1	0	0	0	8979	1290	45	1	12445	1	LRP2	2	170131735	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2988642	170131735	73067638	325	28598										
LRP2	4036	genome.wustl.edu	37	chr2	170134304	170134304	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgtaatcaaaccgagagtCaacccagtaaacacgcttcg	7	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170134304C>G	ENST00000263816.3	-	13	2008	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	575					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D575N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AACCGAGAGTCAACCCAGTAA	0.408																																																	1	Substitution - Missense(1)	urinary_tract(1)											133	129	130					2																	170134304		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1723G>C	2.37:g.170134304C>G	ENSP00000263816:p.Asp575His		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D575H	ENST00000263816.3	37	c.1723	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677390	0.68042	.	.	ENSG00000081479	ENST00000263816	D	0.93906	-3.31	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.043758	0.85682	D	0.000000	D	0.97390	0.9146	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97725	1.0199	10	0.87932	D	0	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	575	P98164	LRP2_HUMAN	H	575	ENSP00000263816:D575H	ENSP00000263816:D575H	D	-	1	0	LRP2	169842550	1.000000	0.71417	0.888000	0.34837	0.196000	0.23810	7.723000	0.84788	2.680000	0.91292	0.555000	0.69702	GAC	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170134304	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170134304	C	G	170134304	3	3	160	1	0	0	0	0	1	0	0	0	8979	826	29	1	12512	1	LRP2	2	170134304	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2569	170134304	73065069	326	28599										
LRP2	4036	genome.wustl.edu	37	chr2	170136053	170136053	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttctctggggtttcaacaGaaacattgagaacctcttgg	11	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170136053G>A	ENST00000263816.3	-	12	1679	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	LRP2_ENST00000443831.1_Missense_Mutation_p.S465F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	465					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGTTTCAACAGAAACATTGAG	0.348																																																	0													70	75	74					2																	170136053		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1394C>T	2.37:g.170136053G>A	ENSP00000263816:p.Ser465Phe		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S465F	ENST00000263816.3	37	c.1394	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274971	0.80580	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91464	-2.85;-2.85	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.059776	0.64402	D	0.000001	D	0.93759	0.8005	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.92562	0.6059	9	.	.	.	.	19.5773	0.95450	0.0:0.0:1.0:0.0	.	465;465	E9PC35;P98164	.;LRP2_HUMAN	F	465	ENSP00000263816:S465F;ENSP00000409813:S465F	.	S	-	2	0	LRP2	169844299	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	9.781000	0.99029	2.643000	0.89663	0.650000	0.86243	TCT	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170136053	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170136053	G	A	170136053	3	1	160	1	0	0	0	0	1	0	0	0	8979	942	33	1	12845	1	LRP2	2	170136053	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1749	170136053	73063320	327	28600										
FASTKD1	79675	genome.wustl.edu	37	chr2	170394627	170394627	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccataagatgaaactggactCttgcacttcgagatggagat	10	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:170394627C>G	ENST00000453153.2	-	11	2316	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T	FASTKD1_ENST00000453929.2_Intron|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	657					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAACTGGACTCTTGCACTTCG	0.348																																																	0													163	180	175					2																	170394627		2203	4300	6503	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1970G>C	2.37:g.170394627C>G	ENSP00000400513:p.Arg657Thr		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.R657T	ENST00000453153.2	37	c.1970	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111173	0.37242	.	.	ENSG00000138399	ENST00000453153	T	0.44482	0.92	5.23	1.42	0.22433	FAST kinase-like protein, subdomain 2 (1);	0.438980	0.28448	N	0.015303	T	0.29684	0.0741	L	0.47016	1.485	0.19300	N	0.999979	P	0.38420	0.63	B	0.34093	0.175	T	0.10776	-1.0615	10	0.30078	T	0.28	-15.6743	8.8883	0.35418	0.0:0.6898:0.0:0.3102	.	657	Q53R41	FAKD1_HUMAN	T	657	ENSP00000400513:R657T	ENSP00000400513:R657T	R	-	2	0	FASTKD1	170102873	0.000000	0.05858	0.002000	0.10522	0.328000	0.28507	-0.183000	0.09712	0.076000	0.16826	0.563000	0.77884	AGA	FASTKD1	-	pfam_FAST_2		0.348	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	C	NM_024622		170394627	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	missense	SNP	0.009	G	G	170394627	C	G	170394627	3	3	160	1	0	0	0	0	1	0	0	0	5703	913	32	1	593	1	FASTKD1	2	170394627	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	258574	170394627	72804746	328	28601										
TLK1	9874	genome.wustl.edu	37	chr2	172016841	172016841	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcggcgtgtgattcagcaggGacctggccgccgccgccgag	17	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172016841G>C	ENST00000431350.2	-	1	502	c.98C>G	c.(97-99)tCc>tGc	p.S33C	TLK1_ENST00000360843.3_Missense_Mutation_p.S33C|TLK1_ENST00000442919.2_5'UTR|TLK1_ENST00000521943.1_Intron			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	33					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTCAGCAGGGACCTGGCCGC	0.711																																																	0													25	33	30					2																	172016841		2202	4298	6500	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.98C>G	2.37:g.172016841G>C	ENSP00000411099:p.Ser33Cys		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	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.S33C	ENST00000431350.2	37	c.98	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194175	0.38707	.	.	ENSG00000198586	ENST00000431350;ENST00000360843	T;T	0.70282	-0.47;-0.47	3.68	3.68	0.42216	.	1.316600	0.06252	U	0.692332	T	0.55242	0.1908	N	0.08118	0	0.80722	D	1	P;P	0.48640	0.913;0.705	B;B	0.43360	0.417;0.237	T	0.53968	-0.8363	10	0.87932	D	0	.	8.4298	0.32750	0.1126:0.0:0.8874:0.0	.	33;33	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	C	33	ENSP00000411099:S33C;ENSP00000354089:S33C	ENSP00000352810:S33C	S	-	2	0	TLK1	171725087	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.507000	0.53371	1.900000	0.55004	0.545000	0.68477	TCC	TLK1	-	NULL		0.711	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	G	NM_012290		172016841	-1	no_errors	ENST00000431350	ensembl	human	known	70_37	missense	SNP	1.000	C	C	172016841	G	C	172016841	3	2	160	1	0	0	0	0	1	0	0	0	15973	1174	41	1	2332	1	TLK1	2	172016841	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1622214	172016841	71182532	329	28602										
SLC25A12	8604	genome.wustl.edu	37	chr2	172693632	172693632	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaacttgctttttacttactGaaactaagttctcctccaca	4	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172693632G>A	ENST00000422440.2	-	6	648	c.611C>T	c.(610-612)tCa>tTa	p.S204L	SLC25A12_ENST00000392592.4_Splice_Site_p.S97L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	204					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|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)	integral component of membrane (GO:0016021)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTTACTTACTGAAACTAAGTT	0.383																																																	0													123	110	114					2																	172693632		2203	4300	6503	SO:0001630	splice_region_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.612+1C>T	2.37:g.172693632G>A			B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S204L	ENST00000422440.2	37	c.611	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340071	0.81911	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.24	6.08	6.08	0.98989	EF-hand-like domain (1);	0.128004	0.56097	D	0.000038	T	0.80121	0.4565	M	0.74881	2.28	0.80722	D	1	P;B	0.37548	0.599;0.399	B;B	0.35607	0.206;0.206	T	0.81263	-0.1012	10	0.72032	D	0.01	-9.4057	20.6647	0.99678	0.0:0.0:1.0:0.0	.	97;204	B3KR64;O75746	.;CMC1_HUMAN	L	204;97	ENSP00000388658:S204L;ENSP00000376371:S97L	ENSP00000376371:S97L	S	-	2	0	SLC25A12	172401878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	TCA	SLC25A12	-	NULL		0.383	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705	Missense_Mutation	172693632	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	missense	SNP	1.000	A	A	172693632	G	A	172693632	5	1	160	1	0	0	0	0	0	0	1	0	14504	1304	45	1	1477	1	SLC25A12	2	172693632	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	676791	172693632	70505741	330	28603										
HAT1	8520	genome.wustl.edu	37	chr2	172848125	172848125	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagagagatcttgctaagatGagaaaatgtctcagaccaga	10	7	2	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172848125G>A	ENST00000264108.4	+	11	1155	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.M288I	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	373					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TTGCTAAGATGAGAAAATGTC	0.343																																																	0													93	93	93					2																	172848125		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1119G>A	2.37:g.172848125G>A	ENSP00000264108:p.Met373Ile		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.M373I	ENST00000264108.4	37	c.1119	CCDS2245.1	2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319347	0.60524	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.31294	0.92	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.51450	-0.8704	9	0.87932	D	0	-27.8351	20.3593	0.98849	0.0:0.0:1.0:0.0	.	373	O14929	HAT1_HUMAN	I	288;373	.	ENSP00000264108:M373I	M	+	3	0	HAT1	172556371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.807000	0.96579	0.591000	0.81541	ATG	HAT1	-	pirsf_Hist_AcTrfase_B-typ_cat-su		0.343	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	G	NM_003642		172848125	1	no_errors	ENST00000264108	ensembl	human	known	70_37	missense	SNP	1.000	A	A	172848125	G	A	172848125	3	1	160	1	0	0	0	0	1	0	0	0	6984	1290	45	1	1161	1	HAT1	2	172848125	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	154493	172848125	70351248	331	28604										
DLX2	1746	genome.wustl.edu	37	chr2	172965437	172965437	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtagttgcccagaaaagccGaggccgcgctgctcgggctg	16	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:172965437G>C	ENST00000234198.4	-	3	1182	c.821C>G	c.(820-822)tCg>tGg	p.S274W	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	274					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CAGAAAAGCCGAGGCCGCGCT	0.731																																					GBM(188;775 2993 11256 23072)												0													11	13	13					2																	172965437		2158	4239	6397	SO:0001583	missense	1746			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.821C>G	2.37:g.172965437G>C	ENSP00000234198:p.Ser274Trp		B4DMK4|B7ZA14	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S274W	ENST00000234198.4	37	c.821	CCDS2248.1	2	.	.	.	.	.	.	.	.	.	.	g	24.0	4.476777	0.84640	.	.	ENSG00000115844	ENST00000234198	D	0.90900	-2.75	4.44	4.44	0.53790	.	0.266108	0.31734	N	0.007157	D	0.90504	0.7025	L	0.47190	1.495	0.80722	D	1	D	0.64830	0.994	P	0.51615	0.675	D	0.91676	0.5354	10	0.87932	D	0	-8.8788	13.9779	0.64284	0.0:0.0:1.0:0.0	.	274	Q07687	DLX2_HUMAN	W	274	ENSP00000234198:S274W	ENSP00000234198:S274W	S	-	2	0	DLX2	172673683	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.361000	0.52306	2.001000	0.58596	0.457000	0.33378	TCG	DLX2	-	NULL		0.731	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	HGNC	protein_coding	OTTHUMT00000255368.3	G			172965437	-1	no_errors	ENST00000234198	ensembl	human	known	70_37	missense	SNP	0.999	C	C	172965437	G	C	172965437	3	2	160	1	0	0	0	0	1	0	0	0	4581	1059	37	1	169	1	DLX2	2	172965437	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	117312	172965437	70233936	332	28605										
ITGA6	3655	genome.wustl.edu	37	chr2	173352121	173352121	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacgcccatgaggctaaactGattgcaacgtttccagacac	9	12	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:173352121G>C	ENST00000264106.6	+	16	2420	c.2217G>C	c.(2215-2217)ctG>ctC	p.L739L	ITGA6_ENST00000375221.2_Silent_p.L739L|ITGA6_ENST00000343713.4_Silent_p.L695L|ITGA6_ENST00000409080.1_Silent_p.L700L|ITGA6_ENST00000264107.7_Silent_p.L700L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.L581L			P23229	ITA6_HUMAN	integrin, alpha 6	739					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGGCTAAACTGATTGCAACGT	0.428																																																	0													82	83	83					2																	173352121		2203	4300	6503	SO:0001819	synonymous_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2217G>C	2.37:g.173352121G>C			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L739	ENST00000264106.6	37	c.2217		2																																																																																			ITGA6	-	pfam_Integrin_alpha-2		0.428	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		G			173352121	1	no_errors	ENST00000264106	ensembl	human	known	70_37	silent	SNP	0.014	C	C	173352121	G	C	173352121	2	2	160	1	0	0	0	0	0	0	0	1	7900	1277	45	1		1	ITGA6	2	173352121	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	386684	173352121	69847252	333	28606										
RAPGEF4	11069	genome.wustl.edu	37	chr2	173832152	173832152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgggccccgacgcccacatGaggatgatccttcgcaaacc	10	15	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:173832152G>C	ENST00000397081.3	+	10	1127	c.984G>C	c.(982-984)atG>atC	p.M328I	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.M184I|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.M157I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.M175I|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.M328I|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.M108I|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.M327I|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.M175I	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	328					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACGCCCACATGAGGATGATCC	0.582																																																	0													55	59	58					2																	173832152		2069	4208	6277	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.984G>C	2.37:g.173832152G>C	ENSP00000380271:p.Met328Ile		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.M328I	ENST00000397081.3	37	c.984	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293595	0.80914	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.077746	0.85682	D	0.000000	T	0.16214	0.0390	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.31910	0.011;0.346;0.007;0.006;0.278	B;B;B;B;B	0.24974	0.009;0.046;0.01;0.004;0.057	T	0.02087	-1.1216	10	0.56958	D	0.05	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	155;157;184;328;328	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	I	327;328;328;184;157;175;175;155;108	ENSP00000264111:M327I;ENSP00000380271:M328I;ENSP00000387104:M328I;ENSP00000380276:M184I;ENSP00000440135:M157I;ENSP00000440250:M175I;ENSP00000437384:M175I;ENSP00000438011:M108I	ENSP00000264111:M327I	M	+	3	0	RAPGEF4	173540398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.822000	0.99363	2.478000	0.83669	0.561000	0.74099	ATG	RAPGEF4	-	NULL		0.582	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	G	NM_007023		173832152	1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	C	C	173832152	G	C	173832152	3	2	160	1	0	0	0	0	1	0	0	0	13076	1290	45	1	1038	1	RAPGEF4	2	173832152	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	480031	173832152	69367221	334	28607										
CHRNA1	1134	genome.wustl.edu	37	chr2	175618995	175618995	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taggtccaggtgcccagcttCatgctgcagttctgttcatc	10	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:175618995C>G	ENST00000261007.5	-	6	633	c.567G>C	c.(565-567)atG>atC	p.M189I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.M164I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.M82I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M164I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.M164I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	189					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGCCCAGCTTCATGCTGCAGT	0.517																																																	0													143	128	133					2																	175618995		2203	4300	6503	SO:0001583	missense	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.567G>C	2.37:g.175618995C>G	ENSP00000261007:p.Met189Ile		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.M189I	ENST00000261007.5	37	c.567	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018612	0.75275	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85261	0.5656	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.885;0.999	D;P;D	0.87578	0.998;0.507;0.998	D	0.85418	0.1141	10	0.87932	D	0	.	20.2216	0.98326	0.0:1.0:0.0:0.0	.	164;164;189	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	164;189;82;164;164	ENSP00000261008:M164I;ENSP00000261007:M189I;ENSP00000387026:M82I;ENSP00000386611:M164I;ENSP00000386684:M164I	ENSP00000261007:M189I	M	-	3	0	CHRNA1	175327241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	ATG	CHRNA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.517	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	C			175618995	-1	no_errors	ENST00000261007	ensembl	human	known	70_37	missense	SNP	1.000	G	G	175618995	C	G	175618995	3	3	160	1	0	0	0	0	1	0	0	0	3386	826	29	1	901	1	CHRNA1	2	175618995	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1786843	175618995	67580378	335	28608										
CHRNA1	1134	genome.wustl.edu	37	chr2	175624354	175624354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatgttcggagcccaggacGaggccagctgagacagcaga	14	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:175624354G>A	ENST00000261007.5	-	2	117	c.51C>T	c.(49-51)ctC>ctT	p.L17L	CHRNA1_ENST00000409323.1_Silent_p.L17L|CHRNA1_ENST00000409542.1_Silent_p.L17L|CHRNA1_ENST00000409219.1_Silent_p.L17L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Silent_p.L17L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	17					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AGCCCAGGACGAGGCCAGCTG	0.557																																																	0													49	48	48					2																	175624354		2203	4300	6503	SO:0001819	synonymous_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.51C>T	2.37:g.175624354G>A			B4DRV6|D3DPE8	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L17	ENST00000261007.5	37	c.51	CCDS33331.1	2																																																																																			CHRNA1	-	NULL		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	G			175624354	-1	no_errors	ENST00000261007	ensembl	human	known	70_37	silent	SNP	0.175	A	A	175624354	G	A	175624354	2	1	160	1	0	0	0	0	0	0	0	1	3386	1045	37	1		1	CHRNA1	2	175624354	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5359	175624354	67575019	336	28609										
NFE2L2	4780	genome.wustl.edu	37	chr2	178095920	178095920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggaggttaatgattttttCtacagggaatgggatatgga	14	2	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178095920C>G	ENST00000397062.3	-	5	1965	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E455Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E455Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E448Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	471					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATGATTTTTTCTACAGGGAAT	0.418			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													167	150	156					2																	178095920		1843	4097	5940	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1411G>C	2.37:g.178095920C>G	ENSP00000380252:p.Glu471Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E471Q	ENST00000397062.3	37	c.1411	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327184	0.60743	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	6.04	6.04	0.98038	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.249108	0.48767	D	0.000174	D	0.95736	0.8613	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59115	0.795;0.852	D	0.95376	0.8469	10	0.72032	D	0.01	-22.1875	20.5948	0.99439	0.0:1.0:0.0:0.0	.	448;471	E9PGJ7;Q16236	.;NF2L2_HUMAN	Q	455;471;448;199	ENSP00000380253:E455Q;ENSP00000380252:E471Q;ENSP00000411575:E448Q;ENSP00000391590:E199Q	ENSP00000380252:E471Q	E	-	1	0	NFE2L2	177804166	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.928000	0.63447	2.873000	0.98535	0.563000	0.77884	GAA	NFE2L2	-	superfamily_Euk_TF_DNA-bd		0.418	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178095920	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	0.998	G	G	178095920	C	G	178095920	3	3	160	1	0	0	0	0	1	0	0	0	10392	922	32	1	410	1	NFE2L2	2	178095920	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2471566	178095920	65103453	337	28610										
NFE2L2	4780	genome.wustl.edu	37	chr2	178096229	178096229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgaggccaagtagtgtgtCtccatagctggaagattcca	11	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178096229C>G	ENST00000397062.3	-	5	1656	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D352H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D352H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D345H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	368					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTAGTGTGTCTCCATAGCTG	0.463			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													155	155	155					2																	178096229		2191	4299	6490	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1102G>C	2.37:g.178096229C>G	ENSP00000380252:p.Asp368His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D368H	ENST00000397062.3	37	c.1102	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847883	0.71603	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.32753	2.14;2.13;2.14;1.44	5.83	5.83	0.93111	.	0.088111	0.85682	D	0.000000	T	0.60090	0.2242	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.62011	-0.6944	10	0.87932	D	0	-19.2781	20.1374	0.98035	0.0:1.0:0.0:0.0	.	345;368	E9PGJ7;Q16236	.;NF2L2_HUMAN	H	352;368;345;96	ENSP00000380253:D352H;ENSP00000380252:D368H;ENSP00000411575:D345H;ENSP00000391590:D96H	ENSP00000380252:D368H	D	-	1	0	NFE2L2	177804475	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.464000	0.60134	2.763000	0.94921	0.563000	0.77884	GAC	NFE2L2	-	superfamily_Serpin_dom		0.463	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178096229	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178096229	C	G	178096229	3	3	160	1	0	0	0	0	1	0	0	0	10392	913	32	1	719	1	NFE2L2	2	178096229	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	309	178096229	65103144	338	28611										
NFE2L2	4780	genome.wustl.edu	37	chr2	178096533	178096533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaatttaatgagttcactgtCaactggttggggtcttctgt	11	6	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178096533C>G	ENST00000397062.3	-	5	1352	c.798G>C	c.(796-798)ttG>ttC	p.L266F	NFE2L2_ENST00000397063.4_Missense_Mutation_p.L250F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L250F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L243F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	266					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTTCACTGTCAACTGGTTGG	0.418			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													124	111	115					2																	178096533		1910	4145	6055	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.798G>C	2.37:g.178096533C>G	ENSP00000380252:p.Leu266Phe		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.L266F	ENST00000397062.3	37	c.798	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712930	0.30413	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047	T;T;T;T;T	0.61274	2.04;2.04;2.05;1.71;0.12	6.17	4.34	0.51931	.	1.084420	0.07083	N	0.837435	T	0.62073	0.2398	M	0.69823	2.125	0.18873	N	0.999987	P;P	0.49961	0.877;0.93	P;P	0.45037	0.467;0.467	T	0.52109	-0.8619	10	0.49607	T	0.09	.	9.2983	0.37829	0.0:0.7786:0.1463:0.0751	.	243;266	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	250;266;243;250;63	ENSP00000380253:L250F;ENSP00000380252:L266F;ENSP00000411575:L243F;ENSP00000400073:L250F;ENSP00000391291:L63F	ENSP00000380252:L266F	L	-	3	2	NFE2L2	177804779	0.111000	0.22076	0.990000	0.47175	0.998000	0.95712	0.760000	0.26475	1.585000	0.49928	0.655000	0.94253	TTG	NFE2L2	-	NULL		0.418	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178096533	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	0.033	G	G	178096533	C	G	178096533	3	3	160	1	0	0	0	0	1	0	0	0	10392	825	29	1	1023	1	NFE2L2	2	178096533	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	304	178096533	65102840	339	28612										
NFE2L2	4780	genome.wustl.edu	37	chr2	178097980	178097980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttattttatacctcacctCattgtcatctacaaacggga	6	10	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178097980C>G	ENST00000397062.3	-	3	954	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E118Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E118Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E118Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E118Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	134					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TACCTCACCTCATTGTCATCT	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													103	89	94					2																	178097980		1838	4097	5935	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.400G>C	2.37:g.178097980C>G	ENSP00000380252:p.Glu134Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E134Q	ENST00000397062.3	37	c.400	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732726	0.89482	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.37058	1.5;1.5;1.99;1.55;1.55;1.22	5.65	5.65	0.86999	.	0.905630	0.09676	N	0.770474	T	0.62696	0.2449	M	0.83953	2.67	0.53688	D	0.999979	D;D;D	0.69078	0.995;0.997;0.995	P;D;D	0.63381	0.886;0.913;0.914	T	0.56438	-0.7979	10	0.46703	T	0.11	.	13.9395	0.64046	0.0:0.9274:0.0:0.0726	.	118;118;134	E9PGJ7;C9JFL6;Q16236	.;.;NF2L2_HUMAN	Q	118;134;118;118;118;118	ENSP00000380253:E118Q;ENSP00000380252:E134Q;ENSP00000411575:E118Q;ENSP00000400073:E118Q;ENSP00000412191:E118Q;ENSP00000410015:E118Q	ENSP00000380252:E134Q	E	-	1	0	NFE2L2	177806226	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.635000	0.46537	2.664000	0.90586	0.491000	0.48974	GAG	NFE2L2	-	NULL		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178097980	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178097980	C	G	178097980	3	3	160	1	0	0	0	0	1	0	0	0	10392	835	29	1	1429	1	NFE2L2	2	178097980	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1447	178097980	65101393	340	28613										
TTC30B	150737	genome.wustl.edu	37	chr2	178416151	178416151	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaattccacagatttgcgGaagatcttttccaccattgg	8	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:178416151G>A	ENST00000408939.3	-	1	1591	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	447					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CAGATTTGCGGAAGATCTTTT	0.383																																																	0													354	362	359					2																	178416151		2203	4300	6503	SO:0001819	synonymous_variant	150737			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1341C>T	2.37:g.178416151G>A			Q63HQ1|Q96NE6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.F447	ENST00000408939.3	37	c.1341	CCDS42784.1	2																																																																																			TTC30B	-	smart_TPR_repeat		0.383	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	G	NM_152517		178416151	-1	no_errors	ENST00000408939	ensembl	human	known	70_37	silent	SNP	1.000	A	A	178416151	G	A	178416151	2	1	160	1	0	0	0	0	0	0	0	1	16730	1165	41	1		1	TTC30B	2	178416151	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	318171	178416151	64783222	341	28614										
DFNB59	494513	genome.wustl.edu	37	chr2	179325119	179325119	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggaggatttgaaagggaaGaaacggcaacatttgcactg	13	5	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179325119G>A	ENST00000409117.3	+	6	1068	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	DFNB59_ENST00000375129.4_Missense_Mutation_p.E238K	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	238					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGAAAGGGAAGAAACGGCAAC	0.308																																																	0													108	102	104					2																	179325119		1846	4090	5936	SO:0001583	missense	494513			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.712G>A	2.37:g.179325119G>A	ENSP00000386647:p.Glu238Lys		A0PK14|B9EJE2	Missense_Mutation	SNP	pfam_Gasdermin	p.E238K	ENST00000409117.3	37	c.712	CCDS42787.1	2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414664	0.42817	.	.	ENSG00000204311	ENST00000409117;ENST00000375129;ENST00000442710	T;T	0.21543	2.0;2.0	5.62	5.62	0.85841	.	0.196102	0.31051	U	0.008352	T	0.07007	0.0178	N	0.02539	-0.55	0.29729	N	0.83807	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	10	0.06891	T	0.86	-7.4948	8.5538	0.33469	0.0788:0.2771:0.6441:0.0	.	238	Q0ZLH3	PJVK_HUMAN	K	238;238;146	ENSP00000386647:E238K;ENSP00000364271:E238K	ENSP00000364271:E238K	E	+	1	0	DFNB59	179033365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.193000	0.58385	2.647000	0.89833	0.462000	0.41574	GAA	DFNB59	-	pfam_Gasdermin		0.308	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB59	HGNC	protein_coding	OTTHUMT00000335160.1	G			179325119	1	no_errors	ENST00000375129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179325119	G	A	179325119	3	1	160	1	0	0	0	0	1	0	0	0	4466	943	33	1	730	1	DFNB59	2	179325119	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	908968	179325119	63874254	342	28615										
TTN	7273	genome.wustl.edu	37	chr2	179396953	179396953	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgatttctttctagacttttCctcctttgacatgaagtcaa	5	9	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179396953C>G	ENST00000591111.1	-	308	99690	c.99466G>C	c.(99466-99468)Gaa>Caa	p.E33156Q	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25924Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25732Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32229Q|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34797Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25857Q|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33156					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGACTTTTCCTCCTTTGAC	0.413																																																	0													140	127	131					2																	179396953		1931	4132	6063	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99466G>C	2.37:g.179396953C>G	ENSP00000465570:p.Glu33156Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E32229Q	ENST00000591111.1	37	c.96685		2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074440	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.14;0.11;0.1	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55146	0.1902	N	0.19112	0.55	0.49582	D	0.999809	B;B;B;B	0.34329	0.449;0.449;0.449;0.449	B;B;B;B	0.38842	0.169;0.169;0.283;0.283	T	0.60301	-0.7290	9	0.87932	D	0	.	19.1016	0.93276	0.0:1.0:0.0:0.0	.	25732;25857;25924;33156	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	32229;25732;25924;25857;25729	ENSP00000343764:E32229Q;ENSP00000434586:E25732Q;ENSP00000340554:E25924Q;ENSP00000352154:E25857Q	ENSP00000340554:E25924Q	E	-	1	0	TTN	179105199	1.000000	0.71417	0.989000	0.46669	0.776000	0.43924	5.640000	0.67875	2.611000	0.88343	0.650000	0.86243	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179396953	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179396953	C	G	179396953	3	3	160	1	0	0	0	0	1	0	0	0	16766	864	30	1	3610	1	TTN	2	179396953	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	71834	179396953	63802420	343	28616										
TTN	7273	genome.wustl.edu	37	chr2	179416909	179416909	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatgacaggatgacactatCagccttgatttcatcaaatc	6	11	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179416909C>T	ENST00000591111.1	-	285	86019	c.85795G>A	c.(85795-85797)Gat>Aat	p.D28599N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21367N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21175N|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27672N|TTN_ENST00000589042.1_Missense_Mutation_p.D30240N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21300N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28599	Fibronectin type-III 108. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGACACTATCAGCCTTGATT	0.443																																																	0													144	141	142					2																	179416909		1941	4143	6084	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85795G>A	2.37:g.179416909C>T	ENSP00000465570:p.Asp28599Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D27672N	ENST00000591111.1	37	c.83014		2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456784	0.63401	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61362	0.2341	L	0.45228	1.405	0.48135	D	0.999599	D;D;D;D	0.57571	0.961;0.961;0.961;0.98	P;P;P;P	0.53224	0.721;0.721;0.721;0.721	T	0.62511	-0.6839	9	0.87932	D	0	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	21175;21300;21367;28599	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27672;21175;21367;21300;21172	ENSP00000343764:D27672N;ENSP00000434586:D21175N;ENSP00000340554:D21367N;ENSP00000352154:D21300N	ENSP00000340554:D21367N	D	-	1	0	TTN	179125155	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.151000	0.58105	2.806000	0.96561	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179416909	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179416909	C	T	179416909	3	4	160	1	0	0	0	0	1	0	0	0	16766	826	29	1	17373	1	TTN	2	179416909	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19956	179416909	63782464	344	28617										
TTN	7273	genome.wustl.edu	37	chr2	179433331	179433331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgaatcggtaacattgattCttgtggtctgcttcagtggg	13	6	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179433331C>G	ENST00000591111.1	-	276	72829	c.72605G>C	c.(72604-72606)aGa>aCa	p.R24202T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16970T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16778T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23275T|TTN_ENST00000589042.1_Missense_Mutation_p.R25843T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16903T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24202	Ig-like 121.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATTGATTCTTGTGGTCTG	0.423																																																	0													233	214	220					2																	179433331		1929	4140	6069	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72605G>C	2.37:g.179433331C>G	ENSP00000465570:p.Arg24202Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R23275T	ENST00000591111.1	37	c.69824		2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911163	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	6.03	5.15	0.70609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73071	0.3540	M	0.93062	3.375	0.58432	D	0.999992	D;D;D;D	0.58268	0.982;0.982;0.982;0.967	P;P;P;P	0.59825	0.864;0.864;0.864;0.76	T	0.81366	-0.0965	9	0.87932	D	0	.	15.6966	0.77506	0.0:0.934:0.0:0.066	.	16778;16903;16970;24202	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23275;16778;16970;16903;16776	ENSP00000343764:R23275T;ENSP00000434586:R16778T;ENSP00000340554:R16970T;ENSP00000352154:R16903T	ENSP00000340554:R16970T	R	-	2	0	TTN	179141577	1.000000	0.71417	0.975000	0.42487	0.971000	0.66376	7.818000	0.86416	1.524000	0.49035	0.655000	0.94253	AGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179433331	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179433331	C	G	179433331	3	3	160	1	0	0	0	0	1	0	0	0	16766	913	32	1	30599	1	TTN	2	179433331	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	16422	179433331	63766042	345	28618										
TTN	7273	genome.wustl.edu	37	chr2	179440066	179440066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttggaaggtatattcctctCcttcagttagattcctcaca	6	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179440066C>A	ENST00000591111.1	-	276	66094	c.65870G>T	c.(65869-65871)gGa>gTa	p.G21957V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14725V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14533V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21030V|TTN_ENST00000589042.1_Missense_Mutation_p.G23598V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14658V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21957	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCCTCTCCTTCAGTTAG	0.493																																																	0													85	83	84					2																	179440066		2027	4189	6216	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65870G>T	2.37:g.179440066C>A	ENSP00000465570:p.Gly21957Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G21030V	ENST00000591111.1	37	c.63089		2	.	.	.	.	.	.	.	.	.	.	C	9.789	1.177413	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80649	0.4663	H	0.94734	3.575	0.54753	D	0.999987	D;D;D;D	0.69078	0.996;0.996;0.996;0.997	P;P;P;P	0.61874	0.895;0.895;0.895;0.895	D	0.84225	0.0463	9	0.87932	D	0	.	7.3233	0.26540	0.0:0.798:0.0:0.202	.	14533;14658;14725;21957	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	21030;14533;14725;14658;14531	ENSP00000343764:G21030V;ENSP00000434586:G14533V;ENSP00000340554:G14725V;ENSP00000352154:G14658V	ENSP00000340554:G14725V	G	-	2	0	TTN	179148312	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.863000	0.56016	2.651000	0.90000	0.585000	0.79938	GGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179440066	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	A	A	179440066	C	A	179440066	3	1	160	1	0	0	0	0	1	0	0	0	16766	855	30	3	37334	3	TTN	2	179440066	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6735	179440066	63759307	346	28619										
TTN	7273	genome.wustl.edu	37	chr2	179444734	179444734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actcattttcagcaaacactCggaagaagtaggattttccc	7	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179444734C>G	ENST00000591111.1	-	268	62581	c.62357G>C	c.(62356-62358)cGa>cCa	p.R20786P	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13554P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13362P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19859P|TTN_ENST00000589042.1_Missense_Mutation_p.R22427P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13487P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20786	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAAACACTCGGAAGAAGTA	0.453																																																	0													146	140	142					2																	179444734		1914	4122	6036	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62357G>C	2.37:g.179444734C>G	ENSP00000465570:p.Arg20786Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R19859P	ENST00000591111.1	37	c.59576		2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379903	0.42207	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.09	5.09	0.68999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87759	0.6258	H	0.99752	4.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93484	0.6830	9	0.87932	D	0	.	18.8502	0.92225	0.0:1.0:0.0:0.0	.	13362;13487;13554;20786	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	19859;13362;13554;13487;13360	ENSP00000343764:R19859P;ENSP00000434586:R13362P;ENSP00000340554:R13554P;ENSP00000352154:R13487P	ENSP00000340554:R13554P	R	-	2	0	TTN	179152980	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	7.776000	0.85560	2.529000	0.85273	0.313000	0.20887	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179444734	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179444734	C	G	179444734	3	3	160	1	0	0	0	0	1	0	0	0	16766	884	31	1	40879	1	TTN	2	179444734	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4668	179444734	63754639	347	28620										
TTN	7273	genome.wustl.edu	37	chr2	179463734	179463734	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggctcttcccagttgacagtCatggagttacgagtcacgct	11	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179463734C>G	ENST00000591111.1	-	241	52004	c.51780G>C	c.(51778-51780)atG>atC	p.M17260I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M10028I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M9836I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M16333I|TTN_ENST00000589042.1_Missense_Mutation_p.M18901I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M9961I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17260	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGACAGTCATGGAGTTAC	0.418																																																	0													59	57	57					2																	179463734		1880	4108	5988	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51780G>C	2.37:g.179463734C>G	ENSP00000465570:p.Met17260Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.M16333I	ENST00000591111.1	37	c.48999		2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086433	0.55861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48892	0.1525	N	0.13198	0.31	0.80722	D	1	P;P;P;P	0.44195	0.704;0.704;0.704;0.828	B;B;B;P	0.47251	0.388;0.388;0.388;0.542	T	0.54118	-0.8341	9	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	9836;9961;10028;17260	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16333;9836;10028;9961;9834	ENSP00000343764:M16333I;ENSP00000434586:M9836I;ENSP00000340554:M10028I;ENSP00000352154:M9961I	ENSP00000340554:M10028I	M	-	3	0	TTN	179171979	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.077000	0.71275	2.843000	0.97960	0.650000	0.86243	ATG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179463734	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179463734	C	G	179463734	3	3	160	1	0	0	0	0	1	0	0	0	16766	826	29	1	51278	1	TTN	2	179463734	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19000	179463734	63735639	348	28621										
TTN	7273	genome.wustl.edu	37	chr2	179465782	179465782	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggtcccatgcaaggcactCaacaatatagtgggtaacag	11	9	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179465782C>G	ENST00000591111.1	-	238	51150	c.50926G>C	c.(50926-50928)Gag>Cag	p.E16976Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9744Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9552Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16049Q|TTN_ENST00000589042.1_Missense_Mutation_p.E18617Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9677Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16976	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGGCACTCAACAATATAG	0.468																																																	0													103	103	103					2																	179465782		1978	4173	6151	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50926G>C	2.37:g.179465782C>G	ENSP00000465570:p.Glu16976Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E16049Q	ENST00000591111.1	37	c.48145		2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914156	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72374	0.3452	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73173	-0.4066	9	0.87932	D	0	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	9552;9677;9744;16976	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	16049;9552;9744;9677;9552	ENSP00000343764:E16049Q;ENSP00000434586:E9552Q;ENSP00000340554:E9744Q;ENSP00000352154:E9677Q	ENSP00000340554:E9744Q	E	-	1	0	TTN	179174027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.713000	0.84693	2.817000	0.96982	0.563000	0.77884	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179465782	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179465782	C	G	179465782	3	3	160	1	0	0	0	0	1	0	0	0	16766	835	29	1	52144	1	TTN	2	179465782	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2048	179465782	63733591	349	28622										
TTN	7273	genome.wustl.edu	37	chr2	179470335	179470335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccgtttttcaatgatatatCcttggatgggactgccacca	9	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179470335C>A	ENST00000591111.1	-	229	48988	c.48764G>T	c.(48763-48765)gGa>gTa	p.G16255V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9023V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8831V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15328V|TTN_ENST00000589042.1_Missense_Mutation_p.G17896V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8956V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16255	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGATATATCCTTGGATGGG	0.448																																																	0													134	130	132					2																	179470335		1938	4121	6059	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48764G>T	2.37:g.179470335C>A	ENSP00000465570:p.Gly16255Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G15328V	ENST00000591111.1	37	c.45983		2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682930	0.47991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84938	0.5583	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88846	0.3316	9	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	8831;8956;9023;16255	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15328;8831;9023;8956;8831	ENSP00000343764:G15328V;ENSP00000434586:G8831V;ENSP00000340554:G9023V;ENSP00000352154:G8956V	ENSP00000340554:G9023V	G	-	2	0	TTN	179178580	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.770000	0.85390	2.780000	0.95670	0.655000	0.94253	GGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179470335	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179470335	C	A	179470335	3	1	160	1	0	0	0	0	1	0	0	0	16766	855	30	3	54342	3	TTN	2	179470335	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4553	179470335	63729038	350	28623										
TTN	7273	genome.wustl.edu	37	chr2	179479247	179479247	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccacacacattcacagcctCaatgatatatgtgccagtgt	7	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179479247C>T	ENST00000591111.1	-	211	44295	c.44071G>A	c.(44071-44073)Gag>Aag	p.E14691K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7459K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7267K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13764K|TTN_ENST00000589042.1_Missense_Mutation_p.E16332K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7392K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14691	Ig-like 96.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACAGCCTCAATGATATAT	0.418																																																	0													96	92	93					2																	179479247		1975	4138	6113	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44071G>A	2.37:g.179479247C>T	ENSP00000465570:p.Glu14691Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13764K	ENST00000591111.1	37	c.41290		2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030797	0.54790	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73265	0.3565	L	0.33753	1.03	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.74538	-0.3632	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	7267;7392;7459;14691	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13764;7267;7459;7392;7267	ENSP00000343764:E13764K;ENSP00000434586:E7267K;ENSP00000340554:E7459K;ENSP00000352154:E7392K	ENSP00000340554:E7459K	E	-	1	0	TTN	179187492	1.000000	0.71417	0.974000	0.42286	0.804000	0.45430	7.704000	0.84595	2.885000	0.99019	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179479247	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179479247	C	T	179479247	3	4	160	1	0	0	0	0	1	0	0	0	16766	835	29	1	59107	1	TTN	2	179479247	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	8912	179479247	63720126	351	28624										
TTN	7273	genome.wustl.edu	37	chr2	179582334	179582334	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgccctatgtggctctggtCagtttgtaaaatctgaagag	11	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179582334C>G	ENST00000591111.1	-	85	24540	c.24316G>C	c.(24316-24318)Gac>Cac	p.D8106H	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D7179H|TTN_ENST00000589042.1_Missense_Mutation_p.D8423H|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12297	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTCTGGTCAGTTTGTAAA	0.418																																																	0													76	77	77					2																	179582334		1879	4115	5994	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24316G>C	2.37:g.179582334C>G	ENSP00000465570:p.Asp8106His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D7179H	ENST00000591111.1	37	c.21535		2	.	.	.	.	.	.	.	.	.	.	C	8.437	0.849884	0.17034	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.51	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68696	0.3029	M	0.68593	2.085	0.80722	D	1	P	0.42649	0.786	P	0.46825	0.528	T	0.71842	-0.4470	9	0.87932	D	0	.	8.9991	0.36069	0.0:0.7648:0.0:0.2352	.	8106	Q8WZ42	TITIN_HUMAN	H	7179	ENSP00000343764:D7179H	ENSP00000343764:D7179H	D	-	1	0	TTN	179290579	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.614000	0.46359	1.463000	0.47967	0.655000	0.94253	GAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179582334	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	G	G	179582334	C	G	179582334	3	3	160	1	0	0	0	0	1	0	0	0	16766	826	29	1	79366	1	TTN	2	179582334	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	103087	179582334	63617039	352	28625										
TTN	7273	genome.wustl.edu	37	chr2	179585914	179585914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgaagcttctaatttcttaAcaaactttggaggttctagt	7	6	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179585914A>C	ENST00000591111.1	-	77	22105	c.21881T>G	c.(21880-21882)gTt>gGt	p.V7294G	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6367G|TTN_ENST00000589042.1_Missense_Mutation_p.V7611G|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12859	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTTCTTAACAAACTTTGG	0.348																																																	0													43	39	40					2																	179585914		1797	4064	5861	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21881T>G	2.37:g.179585914A>C	ENSP00000465570:p.Val7294Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V6367G	ENST00000591111.1	37	c.19100		2	.	.	.	.	.	.	.	.	.	.	A	9.277	1.047279	0.19827	.	.	ENSG00000155657	ENST00000342992	T	0.44482	0.92	5.86	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57829	0.2080	M	0.93808	3.46	0.80722	D	1	P	0.35363	0.497	B	0.39503	0.301	T	0.65524	-0.6147	9	0.87932	D	0	.	11.9742	0.53081	0.9326:0.0:0.0674:0.0	.	7294	Q8WZ42	TITIN_HUMAN	G	6367	ENSP00000343764:V6367G	ENSP00000343764:V6367G	V	-	2	0	TTN	179294159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.997000	0.57016	1.157000	0.42530	0.528000	0.53228	GTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179585914	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	C	C	179585914	A	C	179585914	3	2	160	1	0	0	0	0	1	0	0	0	16766	43	2	5	81833	5	TTN	2	179585914	Missense_Mutation	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	3580	179585914	63613459	353	28626										
TTN	7273	genome.wustl.edu	37	chr2	179635314	179635314	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgatccactggacacctttGacattagggtgtgtaagctc	10	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179635314G>A	ENST00000591111.1	-	35	8429	c.8205C>T	c.(8203-8205)gtC>gtT	p.V2735V	TTN_ENST00000342175.6_Silent_p.V2689V|TTN_ENST00000460472.2_Silent_p.V2689V|TTN_ENST00000360870.5_Silent_p.V2735V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V2735V|TTN_ENST00000589042.1_Silent_p.V2735V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Silent_p.V2689V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13062					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACACCTTTGACATTAGGGT	0.388																																																	0													162	159	160					2																	179635314		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8205C>T	2.37:g.179635314G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V2735	ENST00000591111.1	37	c.8205		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179635314	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.998	A	A	179635314	G	A	179635314	2	1	160	1	0	0	0	0	0	0	0	1	16766	1277	45	1		1	TTN	2	179635314	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	49400	179635314	63564059	354	28627										
TTN	7273	genome.wustl.edu	37	chr2	179641355	179641355	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acggagcctgttggctgcttCaagtggctttccatcatgga	12	10	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179641355C>G	ENST00000591111.1	-	28	5460	c.5236G>C	c.(5236-5238)Gaa>Caa	p.E1746Q	TTN_ENST00000342175.6_Missense_Mutation_p.E1700Q|TTN_ENST00000460472.2_Missense_Mutation_p.E1700Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1746Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1746Q|TTN_ENST00000589042.1_Missense_Mutation_p.E1746Q|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1700Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12578	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGCTTCAAGTGGCTTT	0.493																																																	0													65	59	61					2																	179641355		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5236G>C	2.37:g.179641355C>G	ENSP00000465570:p.Glu1746Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E1746Q	ENST00000591111.1	37	c.5236		2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591310	0.28357	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72574	0.3477	N	0.21194	0.64	0.33015	D	0.528119	P;P;D;D;D	0.76494	0.891;0.891;0.984;0.984;0.999	P;P;P;P;D	0.68943	0.741;0.741;0.855;0.855;0.961	T	0.79936	-0.1593	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1700;1700;1700;1746;1746	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1746;1700;1700;1700;1700;1746	ENSP00000343764:E1746Q;ENSP00000434586:E1700Q;ENSP00000340554:E1700Q;ENSP00000352154:E1700Q;ENSP00000354117:E1746Q	ENSP00000340554:E1700Q	E	-	1	0	TTN	179349600	1.000000	0.71417	0.995000	0.50966	0.748000	0.42578	7.688000	0.84153	2.363000	0.80096	0.561000	0.74099	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641355	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179641355	C	G	179641355	3	3	160	1	0	0	0	0	1	0	0	0	16766	835	29	1	106092	1	TTN	2	179641355	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6041	179641355	63558018	355	28628										
TTN	7273	genome.wustl.edu	37	chr2	179666893	179666893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaagctcagcagtactagtCgcttgtccagatccattggt	10	10	1	2	rs577716745		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:179666893C>T	ENST00000591111.1	-	3	491	c.267G>A	c.(265-267)gcG>gcA	p.A89A	TTN_ENST00000342175.6_Silent_p.A89A|TTN_ENST00000460472.2_Silent_p.A89A|TTN_ENST00000360870.5_Silent_p.A89A|TTN_ENST00000342992.6_Silent_p.A89A|TTN_ENST00000589042.1_Silent_p.A89A|TTN_ENST00000359218.5_Silent_p.A89A			Q8WZ42	TITIN_HUMAN	titin	32701	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTACTAGTCGCTTGTCCAG	0.547													C|||	1	0.000199681	0	0.0014	5008	,	,		17614	0		0	False		,,,				2504	0																0													163	146	152					2																	179666893		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.267G>A	2.37:g.179666893C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A89	ENST00000591111.1	37	c.267		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.547	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179666893	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.997	T	T	179666893	C	T	179666893	2	4	160	1	0	0	0	0	0	0	0	1	16766	871	31	1		1	TTN	2	179666893	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	25538	179666893	63532480	356	28629										
SSFA2	6744	genome.wustl.edu	37	chr2	182780888	182780888	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgctccaccaccaatgtctCagtctacctgttcccttcat	4	16	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:182780888C>G	ENST00000431877.2	+	11	2700	c.2521C>G	c.(2521-2523)Cag>Gag	p.Q841E	SSFA2_ENST00000428267.2_Missense_Mutation_p.Q688E|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q841E|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q841E|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q350E	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	841						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACCAATGTCTCAGTCTACCTG	0.542																																																	0													113	122	119					2																	182780888		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2521C>G	2.37:g.182780888C>G	ENSP00000388731:p.Gln841Glu		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.Q841E	ENST00000431877.2	37	c.2521	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203732	0.79127	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.17691	2.49;2.26;2.49;2.51;2.29	5.95	5.95	0.96441	.	0.173701	0.50627	D	0.000103	T	0.37433	0.1003	M	0.74881	2.28	0.49213	D	0.999768	P;D;D;D;D	0.61697	0.935;0.99;0.967;0.967;0.967	P;P;P;P;P	0.55391	0.648;0.737;0.775;0.775;0.775	T	0.02251	-1.1188	10	0.21540	T	0.41	-13.0528	20.3932	0.98965	0.0:1.0:0.0:0.0	.	688;350;841;841;841	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	E	841;841;841;688;350	ENSP00000388731:Q841E;ENSP00000314669:Q841E;ENSP00000387319:Q841E;ENSP00000409867:Q688E;ENSP00000386916:Q350E	ENSP00000314669:Q841E	Q	+	1	0	SSFA2	182489133	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	6.170000	0.71920	2.824000	0.97209	0.655000	0.94253	CAG	SSFA2	-	NULL		0.542	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	C	NM_006751		182780888	1	no_errors	ENST00000431877	ensembl	human	known	70_37	missense	SNP	1.000	G	G	182780888	C	G	182780888	3	3	160	1	0	0	0	0	1	0	0	0	15213	827	29	1	2563	1	SSFA2	2	182780888	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3113995	182780888	60418485	357	28630										
PDE1A	5136	genome.wustl.edu	37	chr2	183387104	183387104	+	5'UTR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtggcactagaccccatGatgatgctcctaagacaata	8	11	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:183387104G>T	ENST00000410103.1	-	0	83				PDE1A_ENST00000536095.1_5'Flank|PDE1A_ENST00000435564.1_5'UTR|PDE1A_ENST00000331935.6_5'Flank|PDE1A_ENST00000456212.1_5'Flank|PDE1A_ENST00000358139.2_5'Flank	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TAGACCCCATGATGATGCTCC	0.413																																																	0													130	126	127					2																	183387104		2202	4300	6502	SO:0001623	5_prime_UTR_variant	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.-1C>A	2.37:g.183387104G>T			D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	RNA	SNP	-	NULL	ENST00000410103.1	37	NULL	CCDS33344.1	2																																																																																			PDE1A	-	-		0.413	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	G			183387104	-1	no_errors	ENST00000482782	ensembl	human	known	70_37	rna	SNP	0.343	T	T	183387104	G	T	183387104	1	4	160	0	1	0	0	0	0	0	0	0	11657	1305	45	3		3	PDE1A	2	183387104	5'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	606216	183387104	59812269	358	28631										
DNAJC10	54431	genome.wustl.edu	37	chr2	183616895	183616895	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtacactagattgtacagttCatgagggactctgtaacatg	10	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:183616895C>T	ENST00000264065.7	+	16	1946	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	511	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTACAGTTCATGAGGGACT	0.333																																					Pancreas(56;860 1183 25669 35822 48585)												0													128	113	118					2																	183616895		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1531C>T	2.37:g.183616895C>T	ENSP00000264065:p.His511Tyr		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin	p.H511Y	ENST00000264065.7	37	c.1531	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274077	0.59649	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.38401	1.14	6.03	5.16	0.70880	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	N	0.20401	0.57	0.80722	D	1	P;P	0.38827	0.598;0.649	B;B	0.41374	0.355;0.336	T	0.04333	-1.0959	10	0.25106	T	0.35	.	15.0618	0.71961	0.0:0.9326:0.0:0.0674	.	465;511	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	Y	511;465	ENSP00000264065:H511Y	ENSP00000264065:H511Y	H	+	1	0	DNAJC10	183325140	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.756000	0.85195	1.556000	0.49512	0.655000	0.94253	CAT	DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C		0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	C	NM_018981		183616895	1	no_errors	ENST00000264065	ensembl	human	known	70_37	missense	SNP	1.000	T	T	183616895	C	T	183616895	3	4	160	1	0	0	0	0	1	0	0	0	4639	826	29	1	1585	1	DNAJC10	2	183616895	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	229791	183616895	59582478	359	28632										
FSIP2	401024	genome.wustl.edu	37	chr2	186653530	186653530	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catcctctcttcagatagttCaagtttctgtagcacgtgca	7	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:186653530C>T	ENST00000424728.1	+	16	1667	c.1667C>T	c.(1666-1668)tCa>tTa	p.S556L	FSIP2_ENST00000343098.5_Missense_Mutation_p.S645L|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	556										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAGATAGTTCAAGTTTCTGT	0.388																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.1667C>T	2.37:g.186653530C>T	ENSP00000401306:p.Ser556Leu		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.S645L	ENST00000424728.1	37	c.1934		2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943374	0.73672	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.61392	0.11;0.12	5.87	5.87	0.94306	.	0.000000	0.43919	D	0.000517	T	0.64951	0.2645	L	0.48642	1.525	0.34311	D	0.685423	.	.	.	.	.	.	T	0.74581	-0.3618	8	0.72032	D	0.01	.	15.7033	0.77558	0.0:1.0:0.0:0.0	.	.	.	.	L	645;556;556	ENSP00000344403:S645L;ENSP00000401306:S556L	ENSP00000321903:S556L	S	+	2	0	FSIP2	186361775	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	4.109000	0.57824	2.785000	0.95823	0.650000	0.86243	TCA	FSIP2	-	NULL		0.388	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186653530	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.998	T	T	186653530	C	T	186653530	3	4	160	1	0	0	0	0	1	0	0	0	6093	838	29	1	1996	1	FSIP2	2	186653530	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3036635	186653530	56545843	360	28633										
ITGAV	3685	genome.wustl.edu	37	chr2	187455218	187455218	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagggaagttacttcggcttCgccgtggatttcttcgtgcc	13	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTTCGGCTTCGCCGTGGATT	0.637																																					Melanoma(58;108 1995 6081)												1	Substitution - coding silent(1)	urinary_tract(1)											33	39	37					2																	187455218		2203	4300	6503	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.153C>T	2.37:g.187455218C>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.F51	ENST00000261023.3	37	c.153	CCDS2292.1	2																																																																																			ITGAV	-	smart_Int_alpha_beta-p		0.637	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	C	NM_002210		187455218	1	no_errors	ENST00000261023	ensembl	human	known	70_37	silent	SNP	1.000	T	T	187455218	C	T	187455218	2	4	160	1	0	0	0	0	0	0	0	1	7908	883	31	1		1	ITGAV	2	187455218	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	801688	187455218	55744155	361	28634										
ITGAV	3685	genome.wustl.edu	37	chr2	187531487	187531487	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagagatggatacttctgtGaaatttgacttacaaatcca	7	7	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:187531487G>A	ENST00000261023.3	+	22	2497	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Silent_p.V695V|ITGAV_ENST00000374907.3_Silent_p.V705V	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	741					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATACTTCTGTGAAATTTGACT	0.308																																					Melanoma(58;108 1995 6081)												0													96	95	95					2																	187531487		2203	4300	6503	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2223G>A	2.37:g.187531487G>A			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V741	ENST00000261023.3	37	c.2223	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2		0.308	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	G	NM_002210		187531487	1	no_errors	ENST00000261023	ensembl	human	known	70_37	silent	SNP	1.000	A	A	187531487	G	A	187531487	2	1	160	1	0	0	0	0	0	0	0	1	7908	1277	45	1		1	ITGAV	2	187531487	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	76269	187531487	55667886	362	28635										
WDR75	84128	genome.wustl.edu	37	chr2	190324117	190324117	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgtttacattggcaccatGatatggttatggatttggct	10	6	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:190324117G>C	ENST00000314761.4	+	8	805	c.745G>C	c.(745-747)Gat>Cat	p.D249H		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	249						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTGGCACCATGATATGGTTAT	0.303																																																	0													150	150	150					2																	190324117		2203	4300	6503	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.745G>C	2.37:g.190324117G>C	ENSP00000314193:p.Asp249His		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D249H	ENST00000314761.4	37	c.745	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486579	0.63962	.	.	ENSG00000115368	ENST00000314761	T	0.05513	3.43	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.152442	0.64402	D	0.000014	T	0.07728	0.0194	L	0.31065	0.9	0.58432	D	0.999996	P;P	0.45569	0.861;0.74	B;B	0.42555	0.391;0.313	T	0.46624	-0.9178	10	0.19590	T	0.45	-28.1401	19.6767	0.95936	0.0:0.0:1.0:0.0	.	249;249	A8K330;Q8IWA0	.;WDR75_HUMAN	H	249	ENSP00000314193:D249H	ENSP00000314193:D249H	D	+	1	0	WDR75	190032362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.790000	0.62453	2.634000	0.89283	0.655000	0.94253	GAT	WDR75	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.303	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	G	NM_032168		190324117	1	no_errors	ENST00000314761	ensembl	human	known	70_37	missense	SNP	1.000	C	C	190324117	G	C	190324117	3	2	160	1	0	0	0	0	1	0	0	0	17356	1290	45	1	775	1	WDR75	2	190324117	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2792630	190324117	52875256	363	28636										
DNAH7	56171	genome.wustl.edu	37	chr2	196729379	196729379	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tactaggagagcatggctgcGaggctgcttcaggatcctgg	15	9	1	1	rs187261509	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:196729379G>C	ENST00000312428.6	-	41	7100	c.7000C>G	c.(7000-7002)Cgc>Ggc	p.R2334G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2334	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCATGGCTGCGAGGCTGCTTC	0.453																																																	0													96	96	96					2																	196729379		1957	4174	6131	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7000C>G	2.37:g.196729379G>C	ENSP00000311273:p.Arg2334Gly		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.R2334G	ENST00000312428.6	37	c.7000	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	0.513	-0.865726	0.02590	.	.	ENSG00000118997	ENST00000312428	T	0.57107	0.42	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	L	0.52206	1.635	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.61392	-0.7072	10	0.26408	T	0.33	.	17.4131	0.87492	0.0:0.0:1.0:0.0	.	2334	Q8WXX0	DYH7_HUMAN	G	2334	ENSP00000311273:R2334G	ENSP00000311273:R2334G	R	-	1	0	DNAH7	196437624	0.904000	0.30761	0.960000	0.40013	0.180000	0.23129	1.901000	0.39838	2.452000	0.82932	0.460000	0.39030	CGC	DNAH7	-	NULL		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196729379	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.860	C	C	196729379	G	C	196729379	3	2	160	1	0	0	0	0	1	0	0	0	4616	1058	37	1	5174	1	DNAH7	2	196729379	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6405262	196729379	46469994	364	28637										
CCDC150	284992	genome.wustl.edu	37	chr2	197521510	197521510	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgtgccgtcttgaaagcctCatgcagtccttgaagatgaa	10	9	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:197521510C>G	ENST00000389175.4	+	3	465	c.330C>G	c.(328-330)ctC>ctG	p.L110L	CCDC150_ENST00000472405.2_Silent_p.L7L|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	110								p.L110L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGAAAGCCTCATGCAGTCCT	0.383																																																	1	Substitution - coding silent(1)	lung(1)											118	114	115					2																	197521510		1855	4103	5958	SO:0001819	synonymous_variant	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.330C>G	2.37:g.197521510C>G			Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	NULL	p.L110	ENST00000389175.4	37	c.330	CCDS46478.1	2																																																																																			CCDC150	-	NULL		0.383	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	C	NM_001080539		197521510	1	no_errors	ENST00000389175	ensembl	human	known	70_37	silent	SNP	0.985	G	G	197521510	C	G	197521510	2	3	160	1	0	0	0	0	0	0	0	1	2790	813	29	1		1	CCDC150	2	197521510	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	792131	197521510	45677863	365	28638										
ANKRD44	91526	genome.wustl.edu	37	chr2	197943531	197943531	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcattttgaagcagaaactCtagacatctgtaagtataaa	6	6	3	3	rs369157403		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:197943531C>G	ENST00000328737.2	-	16	1547	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	ANKRD44_ENST00000282272.8_Missense_Mutation_p.E508Q|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E491Q|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E516Q|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E491Q|ANKRD44_ENST00000539527.1_Missense_Mutation_p.E444Q|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	516										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAGAAACTCTAGACATCTG	0.383																																																	0								C	GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	96	89	92		1546	5.2	1	2		92	0,8600		0,0,4300	no	missense	ANKRD44	NM_001195144.1	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	516/994	197943531	1,13005	2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1471G>C	2.37:g.197943531C>G	ENSP00000331516:p.Glu491Gln		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E491Q	ENST00000328737.2	37	c.1471		2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640373	0.87859	2.27E-4	0.0	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72394	-0.17;0.03;-0.17;-0.17;0.03;-0.17;-0.17;-0.65	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.35487	1.065	0.80722	D	1	P;D;D	0.69078	0.562;0.995;0.997	B;D;D	0.81914	0.413;0.995;0.995	T	0.71434	-0.4594	10	0.23302	T	0.38	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	444;516;534	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	Q	331;508;491;491;491;191;516;444	ENSP00000403415:E331Q;ENSP00000282272:E508Q;ENSP00000331516:E491Q;ENSP00000402420:E491Q;ENSP00000338794:E491Q;ENSP00000416319:E191Q;ENSP00000387141:E516Q;ENSP00000437825:E444Q	ENSP00000282272:E508Q	E	-	1	0	ANKRD44	197651776	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.609000	0.82925	2.885000	0.99019	0.655000	0.94253	GAG	ANKRD44	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.383	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197943531	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	G	G	197943531	C	G	197943531	3	3	160	1	0	0	0	0	1	0	0	0	672	922	32	1	1332	1	ANKRD44	2	197943531	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	422021	197943531	45255842	366	28639										
KCTD18	130535	genome.wustl.edu	37	chr2	201354957	201354957	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggcgcggtggcgcacagcgGagtcctcttcagctttatca	13	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201354957G>C	ENST00000359878.3	-	7	1657	c.1147C>G	c.(1147-1149)Ccg>Gcg	p.P383A	KCTD18_ENST00000409157.1_Missense_Mutation_p.P383A|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	383					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCGCACAGCGGAGTCCTCTTC	0.642																																																	0													79	76	77					2																	201354957		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1147C>G	2.37:g.201354957G>C	ENSP00000352941:p.Pro383Ala		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.P383A	ENST00000359878.3	37	c.1147	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967313	0.53507	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.57907	0.37;0.37	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000015	T	0.61924	0.2386	L	0.29908	0.895	0.40752	D	0.982924	D	0.89917	1.0	D	0.80764	0.994	T	0.66834	-0.5823	10	0.87932	D	0	-17.3544	15.981	0.80111	0.0:0.0:1.0:0.0	.	383	Q6PI47	KCD18_HUMAN	A	383	ENSP00000352941:P383A;ENSP00000386751:P383A	ENSP00000352941:P383A	P	-	1	0	KCTD18	201063202	1.000000	0.71417	0.914000	0.36105	0.016000	0.09150	4.709000	0.61867	2.531000	0.85337	0.655000	0.94253	CCG	KCTD18	-	NULL		0.642	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	G	NM_152387		201354957	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	1.000	C	C	201354957	G	C	201354957	3	2	160	1	0	0	0	0	1	0	0	0	8125	1174	41	1	137	1	KCTD18	2	201354957	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3411426	201354957	41844416	367	28640										
AOX1	316	genome.wustl.edu	37	chr2	201457893	201457893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagaaaaaaatgtcgatcctGaaacaatgctgttgccttat	7	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201457893G>A	ENST00000374700.2	+	2	311	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	24	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGTCGATCCTGAAACAATGCT	0.338																																																	0													266	230	242					2																	201457893		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.70G>A	2.37:g.201457893G>A	ENSP00000363832:p.Glu24Lys		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.E24K	ENST00000374700.2	37	c.70	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700268	0.88924	.	.	ENSG00000138356	ENST00000374700	T	0.25414	1.8	5.31	5.31	0.75309	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.056287	0.64402	D	0.000001	T	0.52386	0.1731	M	0.79614	2.46	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	T	0.55522	-0.8128	10	0.87932	D	0	-51.4499	17.9171	0.88954	0.0:0.0:1.0:0.0	.	24	Q06278	ADO_HUMAN	K	24	ENSP00000363832:E24K	ENSP00000363832:E24K	E	+	1	0	AOX1	201166138	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.252000	0.89840	2.754000	0.94517	0.655000	0.94253	GAA	AOX1	-	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase		0.338	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	G	NM_001159		201457893	1	no_errors	ENST00000374700	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201457893	G	A	201457893	3	1	160	1	0	0	0	0	1	0	0	0	729	1291	45	1	76	1	AOX1	2	201457893	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	102936	201457893	41741480	368	28641										
AOX1	316	genome.wustl.edu	37	chr2	201531455	201531455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgttggctgcagtataaatCcagccattgacataggccag	10	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201531455C>T	ENST00000374700.2	+	32	3830	c.3589C>T	c.(3589-3591)Cca>Tca	p.P1197S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1197					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAGTATAAATCCAGCCATTGA	0.383																																																	0													109	103	105					2																	201531455		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3589C>T	2.37:g.201531455C>T	ENSP00000363832:p.Pro1197Ser		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.P1197S	ENST00000374700.2	37	c.3589	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876176	0.91664	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.72394	-0.65;-0.65;0.12	5.09	5.09	0.68999	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92462	0.5978	10	0.87932	D	0	-34.956	19.0499	0.93039	0.0:1.0:0.0:0.0	.	1197	Q06278	ADO_HUMAN	S	1197;83;37	ENSP00000363832:P1197S;ENSP00000260930:P83S;ENSP00000413326:P37S	ENSP00000260930:P83S	P	+	1	0	AOX1	201239700	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.259000	0.78381	2.809000	0.96659	0.467000	0.42956	CCA	AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	C	NM_001159		201531455	1	no_errors	ENST00000374700	ensembl	human	known	70_37	missense	SNP	1.000	T	T	201531455	C	T	201531455	3	4	160	1	0	0	0	0	1	0	0	0	729	855	30	1	3715	1	AOX1	2	201531455	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	73562	201531455	41667918	369	28642										
ORC2L	4999	genome.wustl.edu	37	chr2	201800483	201800483	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caacaggagctgaaactactCtattctgagcttgaatcttt	7	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201800483C>G	ENST00000234296.2	-	9	896	c.647G>C	c.(646-648)aGa>aCa	p.R216T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	216					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGAAACTACTCTATTCTGAGC	0.383																																																	0													162	156	158					2																	201800483		2203	4300	6503	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.647G>C	2.37:g.201800483C>G	ENSP00000234296:p.Arg216Thr		Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.R216T	ENST00000234296.2	37	c.647	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497577	0.26861	.	.	ENSG00000115942	ENST00000234296	T	0.30981	1.51	5.24	3.42	0.39159	.	0.269238	0.40554	N	0.001067	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B	0.19935	0.036;0.04	B;B	0.15052	0.012;0.012	T	0.21827	-1.0234	10	0.16420	T	0.52	-9.3902	5.1597	0.15054	0.0:0.6207:0.1645:0.2148	.	216;216	B4DYU9;Q13416	.;ORC2_HUMAN	T	216	ENSP00000234296:R216T	ENSP00000234296:R216T	R	-	2	0	ORC2	201508728	0.000000	0.05858	0.989000	0.46669	0.943000	0.58893	-0.090000	0.11163	0.697000	0.31718	0.555000	0.69702	AGA	ORC2	-	NULL		0.383	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	C	NM_006190		201800483	-1	no_errors	ENST00000234296	ensembl	human	known	70_37	missense	SNP	0.049	G	G	201800483	C	G	201800483	3	3	160	1	0	0	0	0	1	0	0	0	11286	913	32	1	1126	1	ORC2L	2	201800483	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	269028	201800483	41398890	370	28643										
ORC2L	4999	genome.wustl.edu	37	chr2	201800579	201800579	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catcctctgagttggaagcaGaatattcgctttcactgtca	8	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:201800579G>C	ENST00000234296.2	-	9	800	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	184					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTTGGAAGCAGAATATTCGCT	0.428																																																	0													112	105	107					2																	201800579		2203	4300	6503	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.551C>G	2.37:g.201800579G>C	ENSP00000234296:p.Ser184Cys		Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.S184C	ENST00000234296.2	37	c.551	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410874	0.83340	.	.	ENSG00000115942	ENST00000234296	T	0.34472	1.36	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61297	-0.7091	10	0.66056	D	0.02	-12.4966	18.7708	0.91892	0.0:0.0:1.0:0.0	.	184;184	B4DYU9;Q13416	.;ORC2_HUMAN	C	184	ENSP00000234296:S184C	ENSP00000234296:S184C	S	-	2	0	ORC2	201508824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.526000	0.73799	2.620000	0.88729	0.555000	0.69702	TCT	ORC2	-	NULL		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	G	NM_006190		201800579	-1	no_errors	ENST00000234296	ensembl	human	known	70_37	missense	SNP	1.000	C	C	201800579	G	C	201800579	3	2	160	1	0	0	0	0	1	0	0	0	11286	942	33	1	1222	1	ORC2L	2	201800579	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	96	201800579	41398794	371	28644										
STRADB	55437	genome.wustl.edu	37	chr2	202344764	202344764	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctttaacagatgaaagaaGaaagccaggattcaatactt	7	6	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:202344764G>C	ENST00000194530.3	+	12	1488	c.1123G>C	c.(1123-1125)Gaa>Caa	p.E375Q	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	375					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GATGAAAGAAGAAAGCCAGGA	0.323																																																	0													81	79	80					2																	202344764		2203	4300	6503	SO:0001583	missense	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1123G>C	2.37:g.202344764G>C	ENSP00000194530:p.Glu375Gln		Q5BKY7|Q9P1L0	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.E375Q	ENST00000194530.3	37	c.1123	CCDS2348.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.561|8.561	0.877722|0.877722	0.17395|0.17395	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392866|ENST00000415688	T|.	0.11604|.	2.76|.	5.52|5.52	3.74|3.74	0.42951|0.42951	Protein kinase-like domain (1);|.	0.234273|.	0.44902|.	N|.	0.000401|.	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.11560|0.11560	0.145|0.145	0.28505|0.28505	N|N	0.913812|0.913812	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.19321|0.19321	-1.0309|-1.0309	10|5	0.12766|.	T|.	0.61|.	.|.	8.9965|8.9965	0.36055|0.36055	0.0978:0.4664:0.4358:0.0|0.0978:0.4664:0.4358:0.0	.|.	375|.	Q9C0K7|.	STRAB_HUMAN|.	Q|T	375;375;237|45	ENSP00000194530:E375Q|.	ENSP00000194530:E375Q|.	E|R	+|+	1|2	0|0	STRADB|STRADB	202053009|202053009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.983000|2.983000	0.49345|0.49345	0.895000|0.895000	0.36342|0.36342	0.563000|0.563000	0.77884|0.77884	GAA|AGA	STRADB	-	superfamily_Kinase-like_dom		0.323	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	G	NM_018571		202344764	1	no_errors	ENST00000194530	ensembl	human	known	70_37	missense	SNP	1.000	C	C	202344764	G	C	202344764	3	2	160	1	0	0	0	0	1	0	0	0	15355	943	33	1	1165	1	STRADB	2	202344764	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	544185	202344764	40854609	372	28645										
STRADB	55437	genome.wustl.edu	37	chr2	202344895	202344895	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagactcatactgggaattCtagggctgccaaatcatttt	8	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:202344895C>T	ENST00000194530.3	+	12	1619	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	418					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACTGGGAATTCTAGGGCTGCC	0.378																																																	0													130	132	132					2																	202344895		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1254C>T	2.37:g.202344895C>T			Q5BKY7|Q9P1L0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F418	ENST00000194530.3	37	c.1254	CCDS2348.1	2																																																																																			STRADB	-	NULL		0.378	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	C	NM_018571		202344895	1	no_errors	ENST00000194530	ensembl	human	known	70_37	silent	SNP	1.000	T	T	202344895	C	T	202344895	2	4	160	1	0	0	0	0	0	0	0	1	15355	912	32	1		1	STRADB	2	202344895	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	131	202344895	40854478	373	28646										
PARD3B	117583	genome.wustl.edu	37	chr2	206023452	206023452	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattcccctaacagaaaggaGaacctgactgctgtgcactc	8	12	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:206023452G>A	ENST00000406610.2	+	11	1648	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	PARD3B_ENST00000462231.1_Missense_Mutation_p.E481K|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.E481K|PARD3B_ENST00000351153.1_Missense_Mutation_p.E481K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	481					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACAGAAAGGAGAACCTGACTG	0.468																																																	0													124	122	122					2																	206023452		1896	4125	6021	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1441G>A	2.37:g.206023452G>A	ENSP00000385848:p.Glu481Lys		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E481K	ENST00000406610.2	37	c.1441		2	.	.	.	.	.	.	.	.	.	.	G	33	5.271610	0.95429	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	T;T;T	0.11821	2.76;2.76;2.74	5.85	5.85	0.93711	PDZ/DHR/GLGF (2);	.	.	.	.	T	0.39091	0.1065	M	0.68952	2.095	0.58432	D	0.999998	D;D;D;D	0.89917	0.995;0.993;0.975;1.0	D;D;D;D	0.77557	0.973;0.982;0.937;0.99	T	0.01879	-1.1255	9	0.51188	T	0.08	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	481;481;481;481	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-5	.;PAR3L_HUMAN;.;.	K	481	ENSP00000385848:E481K;ENSP00000317261:E481K;ENSP00000340280:E481K	ENSP00000340280:E481K	E	+	1	0	PARD3B	205731697	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.527000	0.81931	2.772000	0.95346	0.650000	0.86243	GAA	PARD3B	-	superfamily_PDZ		0.468	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206023452	1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	1.000	A	A	206023452	G	A	206023452	3	1	160	1	0	0	0	0	1	0	0	0	11468	943	33	1	1483	1	PARD3B	2	206023452	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3678557	206023452	37175921	374	28647										
ZDBF2	57683	genome.wustl.edu	37	chr2	207170423	207170423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttaagtctttggaaggagGagcaaattgaccaagaagat	11	5	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:207170423G>A	ENST00000374423.3	+	5	1557	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	391							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTGGAAGGAGGAGCAAATTGA	0.408																																																	0													98	97	97					2																	207170423		1876	4118	5994	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1171G>A	2.37:g.207170423G>A	ENSP00000363545:p.Glu391Lys		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.E391K	ENST00000374423.3	37	c.1171	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860622	0.51482	.	.	ENSG00000204186	ENST00000374423	T	0.57595	0.39	3.94	3.06	0.35304	.	0.245141	0.21036	N	0.081241	T	0.54983	0.1892	L	0.55481	1.735	0.09310	N	1	D	0.55172	0.97	P	0.51833	0.681	T	0.47355	-0.9124	10	0.54805	T	0.06	.	9.7161	0.40276	0.1017:0.0:0.8983:0.0	.	391	Q9HCK1	ZDBF2_HUMAN	K	391	ENSP00000363545:E391K	ENSP00000363545:E391K	E	+	1	0	ZDBF2	206878668	0.004000	0.15560	0.020000	0.16555	0.019000	0.09904	0.441000	0.21611	1.227000	0.43598	-0.300000	0.09419	GAG	ZDBF2	-	NULL		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207170423	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.067	A	A	207170423	G	A	207170423	3	1	160	1	0	0	0	0	1	0	0	0	17629	1175	41	1	1181	1	ZDBF2	2	207170423	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1146971	207170423	36028950	375	28648										
ZDBF2	57683	genome.wustl.edu	37	chr2	207173526	207173526	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagtttgtgactgatcaatCttctgtacctgtcaaagaaa	7	8	5	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:207173526C>G	ENST00000374423.3	+	5	4660	c.4274C>G	c.(4273-4275)tCt>tGt	p.S1425C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1425							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1425Y(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTGATCAATCTTCTGTACCT	0.323																																																	2	Substitution - Missense(2)	large_intestine(2)											55	53	54					2																	207173526		1828	4088	5916	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4274C>G	2.37:g.207173526C>G	ENSP00000363545:p.Ser1425Cys		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.S1425C	ENST00000374423.3	37	c.4274	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	0.835	-0.743763	0.03088	.	.	ENSG00000204186	ENST00000374423	T	0.54479	0.57	3.54	2.66	0.31614	.	.	.	.	.	T	0.46756	0.1409	L	0.58101	1.795	0.09310	N	1	B	0.24483	0.104	B	0.24848	0.056	T	0.45571	-0.9252	9	0.59425	D	0.04	.	6.6258	0.22828	0.0:0.8709:0.0:0.1291	.	1425	Q9HCK1	ZDBF2_HUMAN	C	1425	ENSP00000363545:S1425C	ENSP00000363545:S1425C	S	+	2	0	ZDBF2	206881771	0.030000	0.19436	0.005000	0.12908	0.047000	0.14425	0.981000	0.29526	1.069000	0.40788	0.650000	0.86243	TCT	ZDBF2	-	NULL		0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207173526	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.006	G	G	207173526	C	G	207173526	3	3	160	1	0	0	0	0	1	0	0	0	17629	913	32	1	4284	1	ZDBF2	2	207173526	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3103	207173526	36025847	376	28649										
BARD1	580	genome.wustl.edu	37	chr2	215646072	215646072	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaattcatatgagtcttgctGagcacttgcatcttttttta	6	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215646072G>A	ENST00000260947.4	-	4	660	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Nonsense_Mutation_p.Q32*	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	176					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCTTGCTGAGCACTTGCA	0.393									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													98	98	98					2																	215646072		2203	4300	6503	SO:0001587	stop_gained	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.526C>T	2.37:g.215646072G>A	ENSP00000260947:p.Gln176*		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.Q176*	ENST00000260947.4	37	c.526	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327790	0.81690	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	.	.	.	5.75	1.71	0.24356	.	0.963978	0.08647	N	0.914677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.6576	6.566	0.22513	0.0672:0.2402:0.5687:0.124	.	.	.	.	X	176;32	.	ENSP00000260947:Q176X	Q	-	1	0	BARD1	215354317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.310000	0.19356	0.386000	0.24997	-0.182000	0.12963	CAG	BARD1	-	NULL		0.393	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	G	NM_000465		215646072	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	215646072	G	A	215646072	4	1	160	1	0	0	0	0	0	1	0	0	1313	1299	45	1	1839	1	BARD1	2	215646072	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8472546	215646072	27553301	377	28650										
ABCA12	26154	genome.wustl.edu	37	chr2	215875124	215875124	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttcccaacaacataggtttCaagaaagcccaaatcacagg	6	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215875124C>G	ENST00000272895.7	-	18	2622	c.2403G>C	c.(2401-2403)ttG>ttC	p.L801F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L483F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	801					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACATAGGTTTCAAGAAAGCCC	0.368																																					Ovarian(66;664 1488 5121 34295)												0													115	110	112					2																	215875124		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2403G>C	2.37:g.215875124C>G	ENSP00000272895:p.Leu801Phe		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L801F	ENST00000272895.7	37	c.2403	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525593	0.64860	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.11277	2.79;2.79	5.38	4.5	0.54988	.	0.117951	0.38436	N	0.001699	T	0.29256	0.0728	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01839	-1.1263	10	0.87932	D	0	.	9.3854	0.38340	0.0:0.792:0.0:0.208	.	801;483	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	801;483	ENSP00000272895:L801F;ENSP00000374312:L483F	ENSP00000272895:L801F	L	-	3	2	ABCA12	215583369	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.094000	0.30951	1.391000	0.46566	0.591000	0.81541	TTG	ABCA12	-	NULL		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215875124	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	G	G	215875124	C	G	215875124	3	3	160	1	0	0	0	0	1	0	0	0	30	825	29	1	5528	1	ABCA12	2	215875124	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	229052	215875124	27324249	378	28651										
ABCA12	26154	genome.wustl.edu	37	chr2	215876785	215876785	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgccagaagccatctgattGagaatctcttttagtcttat	8	8	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215876785G>A	ENST00000272895.7	-	16	2250	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	ABCA12_ENST00000389661.4_Silent_p.L359L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	677					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCATCTGATTGAGAATCTCTT	0.398																																					Ovarian(66;664 1488 5121 34295)												0													231	222	225					2																	215876785		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2031C>T	2.37:g.215876785G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L677	ENST00000272895.7	37	c.2031	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215876785	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	1.000	A	A	215876785	G	A	215876785	2	1	160	1	0	0	0	0	0	0	0	1	30	1277	45	1		1	ABCA12	2	215876785	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1661	215876785	27322588	379	28652										
ABCA12	26154	genome.wustl.edu	37	chr2	215884415	215884415	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagatcaaactcactttcttCacacaggctcccaaagctca	4	15	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:215884415C>T	ENST00000272895.7	-	12	1612	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000595058.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E147K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	465					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCACTTTCTTCACACAGGCTC	0.438																																					Ovarian(66;664 1488 5121 34295)												0													65	64	64					2																	215884415		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1393G>A	2.37:g.215884415C>T	ENSP00000272895:p.Glu465Lys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E465K	ENST00000272895.7	37	c.1393	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026679	0.35797	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88664	-2.41;-2.39	6.0	5.12	0.69794	.	0.160872	0.43919	N	0.000508	T	0.81866	0.4913	L	0.27053	0.805	0.80722	D	1	P;P	0.36027	0.533;0.494	B;B	0.32465	0.122;0.146	T	0.82731	-0.0312	10	0.66056	D	0.02	.	13.0949	0.59187	0.0:0.9256:0.0:0.0744	.	465;147	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	465;147	ENSP00000272895:E465K;ENSP00000374312:E147K	ENSP00000272895:E465K	E	-	1	0	ABCA12	215592660	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	2.354000	0.44098	1.546000	0.49388	0.637000	0.83480	GAA	ABCA12	-	NULL		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215884415	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215884415	C	T	215884415	3	4	160	1	0	0	0	0	1	0	0	0	30	835	29	1	6562	1	ABCA12	2	215884415	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7630	215884415	27314958	380	28653										
FN1	2335	genome.wustl.edu	37	chr2	216298069	216298069	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgatggtacagcttattctCcctcgcccagccccgatgca	9	16	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:216298069C>G	ENST00000359671.1	-	3	658	c.393G>C	c.(391-393)ggG>ggC	p.G131G	FN1_ENST00000323926.6_Silent_p.G131G|FN1_ENST00000356005.4_Silent_p.G131G|FN1_ENST00000354785.4_Silent_p.G131G|FN1_ENST00000426059.1_Silent_p.G131G|FN1_ENST00000432072.2_Silent_p.G131G|FN1_ENST00000446046.1_Silent_p.G131G|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000346544.3_Silent_p.G131G|FN1_ENST00000336916.4_Silent_p.G131G|FN1_ENST00000357009.2_Silent_p.G131G|FN1_ENST00000443816.1_Silent_p.G131G|FN1_ENST00000357867.4_Silent_p.G131G|FN1_ENST00000345488.5_Silent_p.G131G|FN1_ENST00000421182.1_Silent_p.G131G			P02751	FINC_HUMAN	fibronectin 1	131	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCTTATTCTCCCTCGCCCAG	0.438																																																	0													160	146	151					2																	216298069		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.393G>C	2.37:g.216298069C>G			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.G131	ENST00000359671.1	37	c.393		2																																																																																			FN1	-	pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1		0.438	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		C	NM_212476		216298069	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	silent	SNP	0.171	G	G	216298069	C	G	216298069	2	3	160	1	0	0	0	0	0	0	0	1	5980	842	30	1		1	FN1	2	216298069	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	413654	216298069	26901304	381	28654										
TMEM169	92691	genome.wustl.edu	37	chr2	216964747	216964747	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatccatgtcacattgacaGagaaagagctgcaggaactg	10	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:216964747G>C	ENST00000295658.4	+	3	583	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	TMEM169_ENST00000454545.1_Missense_Mutation_p.E126Q|TMEM169_ENST00000437356.2_Missense_Mutation_p.E126Q|TMEM169_ENST00000406027.2_Missense_Mutation_p.E126Q	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	126						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACATTGACAGAGAAAGAGCT	0.542																																																	0													122	108	112					2																	216964747		2203	4300	6503	SO:0001583	missense	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.376G>C	2.37:g.216964747G>C	ENSP00000295658:p.Glu126Gln		B2R8W6	Missense_Mutation	SNP	NULL	p.E126Q	ENST00000295658.4	37	c.376	CCDS2401.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758153	0.89843	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.097535	0.64402	D	0.000001	T	0.73481	0.3592	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	P	0.61658	0.892	T	0.72792	-0.4186	8	.	.	.	-24.0329	17.308	0.87200	0.0:0.0:1.0:0.0	.	126	Q96HH4	TM169_HUMAN	Q	126	.	.	E	+	1	0	TMEM169	216672992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.636000	0.98440	2.550000	0.86006	0.655000	0.94253	GAG	TMEM169	-	NULL		0.542	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	G	NM_138390		216964747	1	no_errors	ENST00000295658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	216964747	G	C	216964747	3	2	160	1	0	0	0	0	1	0	0	0	16114	943	33	1	382	1	TMEM169	2	216964747	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	666678	216964747	26234626	382	28655										
XRCC5	7520	genome.wustl.edu	37	chr2	217002874	217002874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caatacatgttttcatccttGaaaaacagtaagaaatatgc	5	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:217002874G>A	ENST00000392133.3	+	14	1775	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L	XRCC5_ENST00000392132.2_Silent_p.L438L|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	438	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCATCCTTGAAAAACAGTA	0.403								Non-homologous end-joining																																									0													103	99	101					2																	217002874		2203	4300	6503	SO:0001819	synonymous_variant	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1314G>A	2.37:g.217002874G>A			A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku	p.L438	ENST00000392133.3	37	c.1314	CCDS2402.1	2																																																																																			XRCC5	-	pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku		0.403	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	G	NM_021141		217002874	1	no_errors	ENST00000392132	ensembl	human	known	70_37	silent	SNP	1.000	A	A	217002874	G	A	217002874	2	1	160	1	0	0	0	0	0	0	0	1	17487	1281	45	1		1	XRCC5	2	217002874	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	38127	217002874	26196499	383	28656										
TNS1	7145	genome.wustl.edu	37	chr2	218674679	218674679	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtggcccagtgagtgactCcatgtccacagagttgacga	12	11	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:218674679C>G	ENST00000171887.4	-	30	5280	c.4828G>C	c.(4828-4830)Gag>Cag	p.E1610Q	TNS1_ENST00000430930.1_Missense_Mutation_p.E1589Q|TNS1_ENST00000419504.1_Missense_Mutation_p.E1596Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1610					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGAGTGACTCCATGTCCACA	0.562																																																	0													76	73	74					2																	218674679		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4828G>C	2.37:g.218674679C>G	ENSP00000171887:p.Glu1610Gln		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E1610Q	ENST00000171887.4	37	c.4828	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	c	27.5	4.840323	0.91117	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.44	4.44	0.53790	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.75020	0.971;0.95;0.985	T	0.76583	-0.2906	10	0.87932	D	0	.	17.2717	0.87104	0.0:1.0:0.0:0.0	.	1610;1589;1596	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	Q	1610;748;1596;1589	ENSP00000171887:E1610Q;ENSP00000394171:E748Q;ENSP00000408724:E1596Q;ENSP00000406016:E1589Q	ENSP00000171887:E1610Q	E	-	1	0	TNS1	218382924	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.574000	0.82434	2.305000	0.77605	0.443000	0.29094	GAG	TNS1	-	pfam_PTB,smart_PTyr_interaction_dom		0.562	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	C	NM_022648		218674679	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	1.000	G	G	218674679	C	G	218674679	3	3	160	1	0	0	0	0	1	0	0	0	16373	864	30	1	395	1	TNS1	2	218674679	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1671805	218674679	24524694	384	28657										
AAMP	14	genome.wustl.edu	37	chr2	219134716	219134716	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggcggaccgggatcaagttCtaccacctcgataatctctt	9	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:219134716C>G	ENST00000248450.4	-	1	264	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000273077.4_5'Flank|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000444053.1_Missense_Mutation_p.E32Q			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	32					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATCAAGTTCTACCACCTCG	0.622																																																	0													125	133	130					2																	219134716		2203	4300	6503	SO:0001583	missense	14			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.94G>C	2.37:g.219134716C>G	ENSP00000248450:p.Glu32Gln		Q8WUJ9|Q96H92	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E32Q	ENST00000248450.4	37	c.94	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274649	0.59649	.	.	ENSG00000127837	ENST00000248450;ENST00000444053	T;T	0.58060	0.45;0.36	5.05	5.05	0.67936	.	0.046835	0.85682	D	0.000000	T	0.45054	0.1323	L	0.43923	1.385	0.80722	D	1	P;P	0.41524	0.753;0.753	B;B	0.39068	0.289;0.289	T	0.31696	-0.9934	10	0.22109	T	0.4	-19.7694	15.2759	0.73742	0.0:1.0:0.0:0.0	.	32;32	C9JEH3;Q13685	.;AAMP_HUMAN	Q	32	ENSP00000248450:E32Q;ENSP00000403343:E32Q	ENSP00000248450:E32Q	E	-	1	0	AAMP	218842960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.006000	0.63978	2.624000	0.88883	0.655000	0.94253	GAA	AAMP	-	NULL		0.622	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	C	NM_001087		219134716	-1	no_errors	ENST00000248450	ensembl	human	known	70_37	missense	SNP	1.000	G	G	219134716	C	G	219134716	3	3	160	1	0	0	0	0	1	0	0	0	17	922	32	1	1254	1	AAMP	2	219134716	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	460037	219134716	24064657	385	28658										
CYP27A1	1593	genome.wustl.edu	37	chr2	219679158	219679158	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagaaaaggaaattgaagttGatggcttcctcttccccaag	9	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:219679158G>C	ENST00000258415.4	+	7	1667	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	414					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AATTGAAGTTGATGGCTTCCT	0.537																																																	0													103	108	107					2																	219679158		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1240G>C	2.37:g.219679158G>C	ENSP00000258415:p.Asp414His		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D414H	ENST00000258415.4	37	c.1240	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602980	0.66445	.	.	ENSG00000135929	ENST00000258415	T	0.70399	-0.48	5.75	2.96	0.34315	.	0.324087	0.36815	N	0.002385	T	0.69949	0.3168	L	0.38649	1.16	0.09310	N	1	P	0.52463	0.953	P	0.56788	0.806	T	0.61108	-0.7129	10	0.62326	D	0.03	-0.7014	8.3123	0.32080	0.246:0.0:0.754:0.0	.	414	Q02318	CP27A_HUMAN	H	414	ENSP00000258415:D414H	ENSP00000258415:D414H	D	+	1	0	CYP27A1	219387402	1.000000	0.71417	0.048000	0.18961	0.815000	0.46073	3.965000	0.56788	0.332000	0.23536	0.561000	0.74099	GAT	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.537	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	G			219679158	1	no_errors	ENST00000258415	ensembl	human	known	70_37	missense	SNP	0.044	C	C	219679158	G	C	219679158	3	2	160	1	0	0	0	0	1	0	0	0	4163	1290	45	1	1266	1	CYP27A1	2	219679158	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	544442	219679158	23520215	386	28659										
GLB1L	79411	genome.wustl.edu	37	chr2	220103037	220103037	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacccagaatggtgttggctCaaaaatggtatgggtcatat	11	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220103037C>G	ENST00000295759.7	-	14	1589	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	GLB1L_ENST00000409640.1_Missense_Mutation_p.E336Q|GLB1L_ENST00000392089.2_Missense_Mutation_p.E426Q|GLB1L_ENST00000356283.3_Missense_Mutation_p.E336Q|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	426					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTTGGCTCAAAAATGGTA	0.463																																																	0													166	150	155					2																	220103037		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1276G>C	2.37:g.220103037C>G	ENSP00000295759:p.Glu426Gln		Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E426Q	ENST00000295759.7	37	c.1276	CCDS2437.1	2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892061	0.33442	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97161	-4.27;-4.02;-4.27;-4.02	5.41	3.48	0.39840	.	0.485079	0.23670	N	0.045726	D	0.91784	0.7401	N	0.16833	0.445	0.19575	N	0.999967	B;B	0.28850	0.225;0.035	B;B	0.27262	0.078;0.017	T	0.83003	-0.0176	10	0.20519	T	0.43	-15.1073	12.6472	0.56742	0.0:0.847:0.0:0.153	.	336;426	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	Q	426;336;426;336	ENSP00000295759:E426Q;ENSP00000386354:E336Q;ENSP00000375939:E426Q;ENSP00000348628:E336Q	ENSP00000295759:E426Q	E	-	1	0	GLB1L	219811281	0.456000	0.25744	0.880000	0.34516	0.941000	0.58515	1.129000	0.31381	1.538000	0.49270	0.655000	0.94253	GAG	GLB1L	-	NULL		0.463	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	C	NM_024506		220103037	-1	no_errors	ENST00000295759	ensembl	human	known	70_37	missense	SNP	0.170	G	G	220103037	C	G	220103037	3	3	160	1	0	0	0	0	1	0	0	0	6447	835	29	1	704	1	GLB1L	2	220103037	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	423879	220103037	23096336	387	28660										
SPEG	10290	genome.wustl.edu	37	chr2	220353359	220353359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaacgtactgggcagcatCaccagctcctgtaccgtggc	10	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220353359C>G	ENST00000312358.7	+	33	8130	c.7998C>G	c.(7996-7998)atC>atG	p.I2666M	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2666	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCAGCATCACCAGCTCCT	0.662																																																	0													35	38	37					2																	220353359		2012	4173	6185	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7998C>G	2.37:g.220353359C>G	ENSP00000311684:p.Ile2666Met		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I2666M	ENST00000312358.7	37	c.7998	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562784	0.27915	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66995	-0.24	4.37	2.15	0.27550	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364326	0.19904	N	0.103451	T	0.57725	0.2073	L	0.41079	1.255	0.80722	D	1	P	0.42941	0.794	P	0.45998	0.5	T	0.53251	-0.8465	10	0.54805	T	0.06	.	4.6827	0.12743	0.0:0.5964:0.1689:0.2347	.	2666	Q15772	SPEG_HUMAN	M	2666	ENSP00000311684:I2666M	ENSP00000265327:I2666M	I	+	3	3	SPEG	220061603	0.318000	0.24598	0.999000	0.59377	0.972000	0.66771	0.113000	0.15499	0.281000	0.22233	0.563000	0.77884	ATC	SPEG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220353359	1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	0.986	G	G	220353359	C	G	220353359	3	3	160	1	0	0	0	0	1	0	0	0	15066	816	29	1	8140	1	SPEG	2	220353359	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	250322	220353359	22846014	388	28661										
CHPF	79586	genome.wustl.edu	37	chr2	220405172	220405172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccagaacatcggccacatCagcccggtcagccccacgca	8	20	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:220405172C>T	ENST00000243776.6	-	4	1509	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	CHPF_ENST00000535926.1_Missense_Mutation_p.D259N	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	421					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCGGCCACATCAGCCCGGTCA	0.657																																																	0													29	32	31					2																	220405172		2202	4295	6497	SO:0001583	missense	79586			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1261G>A	2.37:g.220405172C>T	ENSP00000243776:p.Asp421Asn		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.D421N	ENST00000243776.6	37	c.1261	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517894	0.64634	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.20738	2.05;2.05	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59553	-0.7433	10	0.59425	D	0.04	-21.7542	17.8999	0.88900	0.0:1.0:0.0:0.0	.	421	Q8IZ52	CHSS2_HUMAN	N	421;259	ENSP00000243776:D421N;ENSP00000445571:D259N	ENSP00000243776:D421N	D	-	1	0	CHPF	220113416	1.000000	0.71417	0.856000	0.33681	0.086000	0.17979	7.646000	0.83445	2.551000	0.86045	0.561000	0.74099	GAT	CHPF	-	pfam_Chond_GalNAc		0.657	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1	C	NM_024536		220405172	-1	no_errors	ENST00000243776	ensembl	human	known	70_37	missense	SNP	1.000	T	T	220405172	C	T	220405172	3	4	160	1	0	0	0	0	1	0	0	0	3373	826	29	1	1070	1	CHPF	2	220405172	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	51813	220405172	22794201	389	28662										
EPHA4	2043	genome.wustl.edu	37	chr2	222307658	222307658	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtctgtataaccagctttCagagtcttgatagccacaca	7	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:222307658C>T	ENST00000281821.2	-	11	2006	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	EPHA4_ENST00000392071.4_Silent_p.L604L|EPHA4_ENST00000409854.1_Silent_p.L655L|EPHA4_ENST00000409938.1_Silent_p.L655L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AACCAGCTTTCAGAGTCTTGA	0.478																																																	0													132	125	127					2																	222307658		2203	4300	6503	SO:0001819	synonymous_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1965G>A	2.37:g.222307658C>T			A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L655	ENST00000281821.2	37	c.1965	CCDS2447.1	2																																																																																			EPHA4	-	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.478	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	C			222307658	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	silent	SNP	1.000	T	T	222307658	C	T	222307658	2	4	160	1	0	0	0	0	0	0	0	1	5181	813	29	1		1	EPHA4	2	222307658	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1902486	222307658	20891715	390	28663										
ACSL3	2181	genome.wustl.edu	37	chr2	223789179	223789179	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttttatacatttaggaaatCatggatcggatctacaaaaa	6	5	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:223789179C>T	ENST00000357430.3	+	11	1689	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	ACSL3_ENST00000392066.3_Silent_p.I386I	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	386					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGGAAATCATGGATCGGA	0.294			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													68	67	67					2																	223789179		2203	4300	6503	SO:0001819	synonymous_variant	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1158C>T	2.37:g.223789179C>T			Q60I92|Q8IUM9	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.I386	ENST00000357430.3	37	c.1158	CCDS2455.1	2																																																																																			ACSL3	-	pfam_AMP-dep_Synth/Lig		0.294	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	C	NM_004457		223789179	1	no_errors	ENST00000357430	ensembl	human	known	70_37	silent	SNP	0.999	T	T	223789179	C	T	223789179	2	4	160	1	0	0	0	0	0	0	0	1	178	816	29	1		1	ACSL3	2	223789179	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1481521	223789179	19410194	391	28664										
ALPP	250	genome.wustl.edu	37	chr2	233245707	233245707	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactcccacgtcttctccttCggaggctaccccctgcgagg	9	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:233245707C>G	ENST00000392027.2	+	9	1427	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	386					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTTCTCCTTCGGAGGCTACC	0.617																																																	0													1	1	1					2																	233245707		987	2537	3524	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1158C>G	2.37:g.233245707C>G	ENSP00000375881:p.Phe386Leu		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.F386L	ENST00000392027.2	37	c.1158	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	C	5.242	0.230127	0.09969	.	.	ENSG00000163283	ENST00000392027	D	0.96619	-4.07	3.2	0.819	0.18785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.111781	0.64402	N	0.000006	D	0.95262	0.8463	L	0.37561	1.115	0.41734	D	0.989577	D	0.64830	0.994	D	0.64321	0.924	D	0.91994	0.5605	10	0.40728	T	0.16	.	8.2315	0.31601	0.0:0.6049:0.0:0.3951	.	386	P05187	PPB1_HUMAN	L	386	ENSP00000375881:F386L	ENSP00000375881:F386L	F	+	3	2	ALPP	232953951	0.003000	0.15002	0.416000	0.26546	0.121000	0.20230	-1.382000	0.02546	-0.114000	0.11936	-0.786000	0.03341	TTC	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	C	NM_001632		233245707	1	no_errors	ENST00000392027	ensembl	human	known	70_37	missense	SNP	0.999	G	G	233245707	C	G	233245707	3	3	160	1	0	0	0	0	1	0	0	0	548	883	31	1	1192	1	ALPP	2	233245707	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9456528	233245707	9953666	392	28665										
UGT1A7	54577	genome.wustl.edu	37	chr2	234590793	234590793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcaactgggaagatcactGaattgcacagtgaagactta	11	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:234590793G>A	ENST00000373426.3	+	1	210	c.210G>A	c.(208-210)ctG>ctA	p.L70L	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	70					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	GAAGATCACTGAATTGCACAG	0.532																																																	0													141	125	130					2																	234590793		2203	4300	6503	SO:0001819	synonymous_variant	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.210G>A	2.37:g.234590793G>A			B8K293|O00473	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L70	ENST00000373426.3	37	c.210	CCDS2506.1	2																																																																																			UGT1A7	-	pfam_UDP_glucos_trans		0.532	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	G	NM_019077		234590793	1	no_errors	ENST00000373426	ensembl	human	known	70_37	silent	SNP	0.000	A	A	234590793	G	A	234590793	2	1	160	1	0	0	0	0	0	0	0	1	16981	1277	45	1		1	UGT1A7	2	234590793	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1345086	234590793	8608580	393	28666										
IQCA1	79781	genome.wustl.edu	37	chr2	237396739	237396739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttgcagatagatttgcttCatgaataaagcccttaggcg	9	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:237396739C>T	ENST00000409907.3	-	4	826	c.552G>A	c.(550-552)atG>atA	p.M184I	IQCA1_ENST00000431676.2_Missense_Mutation_p.M184I|IQCA1_ENST00000309507.5_Missense_Mutation_p.M180I	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	184							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATTTGCTTCATGAATAAAG	0.458																																																	0													81	76	77					2																	237396739		1901	4121	6022	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.552G>A	2.37:g.237396739C>T	ENSP00000387347:p.Met184Ile		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.M184I	ENST00000409907.3	37	c.552	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541991|3.541991	0.65198|0.65198	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.94576	.|-3.31;-3.31;-3.46	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.96713|0.96713	0.8927|0.8927	M|M	0.88310|0.88310	2.945|2.945	0.42010|0.42010	D|D	0.990939|0.990939	.|D;P;D	.|0.61080	.|0.974;0.803;0.989	.|P;P;P	.|0.51701	.|0.566;0.465;0.677	D|D	0.96995|0.96995	0.9725|0.9725	5|10	.|0.52906	.|T	.|0.07	.|.	19.3079|19.3079	0.94171|0.94171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|184;191;184	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	K|I	203|184;191;180;184;180	.|ENSP00000387347:M184I;ENSP00000311951:M180I;ENSP00000407213:M184I	.|ENSP00000254653:M184I	E|M	-|-	1|3	0|0	IQCA1|IQCA1	237061478|237061478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.694000|0.694000	0.40290|0.40290	2.512000|2.512000	0.45485|0.45485	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	GAA|ATG	IQCA1	-	NULL		0.458	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	C	NM_024726		237396739	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237396739	C	T	237396739	3	4	160	1	0	0	0	0	1	0	0	0	7822	826	29	1	1980	1	IQCA1	2	237396739	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2805946	237396739	5802634	394	28667										
CXCR7	57007	genome.wustl.edu	37	chr2	237489360	237489360	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacacgcactgctacatcttGaacctggccattgccgacct	8	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:237489360G>C	ENST00000272928.3	+	2	562	c.252G>C	c.(250-252)ttG>ttC	p.L84F		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	84					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCTACATCTTGAACCTGGCCA	0.562																																																	0													163	139	147					2																	237489360		2203	4300	6503	SO:0001583	missense	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.252G>C	2.37:g.237489360G>C	ENSP00000272928:p.Leu84Phe		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.L84F	ENST00000272928.3	37	c.252	CCDS2516.1	2	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258483	0.23051	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.74315	-0.83;-0.83	5.57	-4.19	0.03835	GPCR, rhodopsin-like superfamily (1);	0.376127	0.25490	N	0.030310	T	0.56615	0.1997	N	0.25031	0.7	0.38759	D	0.954278	B	0.15719	0.014	B	0.17722	0.019	T	0.34428	-0.9829	10	0.40728	T	0.16	.	14.3216	0.66489	0.1499:0.6261:0.2239:0.0	.	84	P25106	CXCR7_HUMAN	F	84	ENSP00000405945:L84F;ENSP00000272928:L84F	ENSP00000272928:L84F	L	+	3	2	CXCR7	237154099	0.258000	0.24033	0.612000	0.29024	0.945000	0.59286	-0.373000	0.07494	-0.450000	0.07107	-0.257000	0.10917	TTG	CXCR7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.562	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	G	NM_020311		237489360	1	no_errors	ENST00000272928	ensembl	human	known	70_37	missense	SNP	0.751	C	C	237489360	G	C	237489360	3	2	160	1	0	0	0	0	1	0	0	0	4101	1281	45	1	254	1	CXCR7	2	237489360	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	92621	237489360	5710013	395	28668										
COL6A3	1293	genome.wustl.edu	37	chr2	238261167	238261167	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtattaggacaggcttacccGaggtccagaaatgccttgtt	11	9	0	1	rs116690555	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238261167G>T	ENST00000295550.4	-	26	7203	c.6751C>A	c.(6751-6753)Cgg>Agg	p.R2251R	COL6A3_ENST00000409809.1_Silent_p.R2045R|COL6A3_ENST00000347401.3_Silent_p.R2050R|COL6A3_ENST00000472056.1_Silent_p.R1644R|COL6A3_ENST00000346358.4_Silent_p.R2051R|COL6A3_ENST00000353578.4_Silent_p.R2045R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2251	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGCTTACCCGAGGTCCAGAA	0.537																																																	0													85	69	75					2																	238261167		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6751C>A	2.37:g.238261167G>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2251	ENST00000295550.4	37	c.6751	CCDS33412.1	2																																																																																			COL6A3	-	NULL		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238261167	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	silent	SNP	0.986	T	T	238261167	G	T	238261167	2	4	160	1	0	0	0	0	0	0	0	1	3706	1057	37	3		3	COL6A3	2	238261167	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	771807	238261167	4938206	396	28669										
MLPH	79083	genome.wustl.edu	37	chr2	238436082	238436082	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggccgatgtggacacctctGatgaggaaagcatccgggct	14	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238436082G>C	ENST00000264605.3	+	8	1237	c.943G>C	c.(943-945)Gat>Cat	p.D315H	MLPH_ENST00000409373.1_Missense_Mutation_p.D275H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.D315H|MLPH_ENST00000445024.2_Missense_Mutation_p.D315H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	315					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.D315N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGACACCTCTGATGAGGAAAG	0.557																																																	1	Substitution - Missense(1)	breast(1)											96	101	99					2																	238436082		2203	4300	6503	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.943G>C	2.37:g.238436082G>C	ENSP00000264605:p.Asp315His		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.D315H	ENST00000264605.3	37	c.943	CCDS2518.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.43|17.43	3.388493|3.388493	0.61956|0.61956	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373|ENST00000415753	T;T;T;T|.	0.45276|.	1.83;1.81;1.26;0.9|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	1.416630|.	0.04384|.	N|.	0.361270|.	T|.	0.64170|.	0.2574|.	L|L	0.58810|0.58810	1.83|1.83	0.34400|0.34400	D|D	0.695143|0.695143	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.984;0.988;0.985;0.986;0.993;0.99|.	T|.	0.72843|.	-0.4170|.	10|.	0.87932|.	D|.	0|.	-16.0617|-16.0617	13.1653|13.1653	0.59567|0.59567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	315;199;315;275;315;315|.	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36|.	.;.;.;.;.;MELPH_HUMAN|.	H|S	315;315;315;275|2	ENSP00000264605:D315H;ENSP00000414849:D315H;ENSP00000341845:D315H;ENSP00000386780:D275H|.	ENSP00000264605:D315H|.	D|X	+|+	1|2	0|2	MLPH|MLPH	238100821|238100821	0.973000|0.973000	0.33851|0.33851	0.065000|0.065000	0.19835|0.19835	0.059000|0.059000	0.15707|0.15707	4.406000|4.406000	0.59748|0.59748	2.163000|2.163000	0.67991|0.67991	0.561000|0.561000	0.74099|0.74099	GAT|TGA	MLPH	-	NULL		0.557	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	G	NM_024101		238436082	1	no_errors	ENST00000264605	ensembl	human	known	70_37	missense	SNP	0.464	C	C	238436082	G	C	238436082	3	2	160	1	0	0	0	0	1	0	0	0	9656	1290	45	1	969	1	MLPH	2	238436082	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	174915	238436082	4763291	397	28670										
LRRFIP1	9208	genome.wustl.edu	37	chr2	238659879	238659879	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaccagattcaggatgtaGaaggcaaatacatgcaggga	13	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238659879G>C	ENST00000392000.4	+	7	565	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E278Q	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	150					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCAGGATGTAGAAGGCAAATA	0.388																																																	0													89	78	82					2																	238659879		1568	3582	5150	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.448G>C	2.37:g.238659879G>C	ENSP00000375857:p.Glu150Gln		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.E150Q	ENST00000392000.4	37	c.448	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915120	0.92178	.	.	ENSG00000124831	ENST00000308482;ENST00000391999;ENST00000392000	T;T	0.56103	0.48;2.39	5.09	5.09	0.68999	.	0.174155	0.35525	U	0.003146	T	0.72399	0.3455	M	0.69823	2.125	0.49389	D	0.999786	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75611	-0.3258	10	0.66056	D	0.02	-23.7629	17.5064	0.87747	0.0:0.0:1.0:0.0	.	150;278	Q32MZ4;E9PGZ2	LRRF1_HUMAN;.	Q	278;268;150	ENSP00000310109:E278Q;ENSP00000375857:E150Q	ENSP00000310109:E278Q	E	+	1	0	LRRFIP1	238324618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.107000	0.94261	2.350000	0.79820	0.655000	0.94253	GAA	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.388	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	G	NM_004735		238659879	1	no_errors	ENST00000392000	ensembl	human	known	70_37	missense	SNP	1.000	C	C	238659879	G	C	238659879	3	2	160	1	0	0	0	0	1	0	0	0	9050	943	33	1	956	1	LRRFIP1	2	238659879	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	223797	238659879	4539494	398	28671										
LRRFIP1	9208	genome.wustl.edu	37	chr2	238671302	238671302	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcgaatgtggggaaaagaGaaatcttgcacaatactgag	13	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:238671302G>C	ENST00000392000.4	+	11	1063	c.946G>C	c.(946-948)Gaa>Caa	p.E316Q	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E292Q|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E260Q|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	316					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GGGGAAAAGAGAAATCTTGCA	0.463																																																	0													70	64	66					2																	238671302		2203	4300	6503	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.946G>C	2.37:g.238671302G>C	ENSP00000375857:p.Glu316Gln		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.E316Q	ENST00000392000.4	37	c.946	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581670	0.46006	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.39592	1.07;1.07;1.07	5.4	4.53	0.55603	.	0.633406	0.16217	N	0.224208	T	0.39784	0.1091	N	0.11201	0.11	0.22213	N	0.999286	D;D;D	0.56746	0.971;0.977;0.971	P;P;P	0.59357	0.776;0.856;0.776	T	0.30238	-0.9985	10	0.27082	T	0.32	-5.2989	13.2441	0.60014	0.0767:0.0:0.9233:0.0	.	260;316;292	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	Q	260;292;316	ENSP00000289175:E260Q;ENSP00000244815:E292Q;ENSP00000375857:E316Q	ENSP00000244815:E292Q	E	+	1	0	LRRFIP1	238336041	0.995000	0.38212	0.247000	0.24249	0.109000	0.19521	3.132000	0.50523	1.287000	0.44583	-0.145000	0.13849	GAA	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.463	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	G	NM_004735		238671302	1	no_errors	ENST00000392000	ensembl	human	known	70_37	missense	SNP	0.956	C	C	238671302	G	C	238671302	3	2	160	1	0	0	0	0	1	0	0	0	9050	943	33	1	1664	1	LRRFIP1	2	238671302	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11423	238671302	4528071	399	28672										
SNED1	25992	genome.wustl.edu	37	chr2	241969734	241969734	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggatcatctccttcctgaagGaggtttctcagttcacccca	8	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:241969734G>C	ENST00000310397.8	+	2	247	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	SNED1_ENST00000342631.6_Missense_Mutation_p.E83Q|SNED1_ENST00000401884.1_Missense_Mutation_p.E83Q|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.E83Q	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	83					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTTCCTGAAGGAGGTTTCTCA	0.637																																																	0													33	38	36					2																	241969734		2059	4193	6252	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.247G>C	2.37:g.241969734G>C	ENSP00000308893:p.Glu83Gln		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.E83Q	ENST00000310397.8	37	c.247	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504872	0.85176	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.16	5.16	0.70880	.	.	.	.	.	D	0.82282	0.5003	L	0.41906	1.305	0.40158	D	0.977034	D	0.89917	1.0	D	0.87578	0.998	D	0.84758	0.0760	9	0.87932	D	0	.	18.6535	0.91440	0.0:0.0:1.0:0.0	.	83	Q8TER0	SNED1_HUMAN	Q	83	ENSP00000384871:E83Q;ENSP00000386007:E83Q;ENSP00000308893:E83Q;ENSP00000342992:E83Q	ENSP00000308893:E83Q	E	+	1	0	SNED1	241618407	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.506000	0.81665	2.404000	0.81709	0.655000	0.94253	GAG	SNED1	-	NULL		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		241969734	1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	1.000	C	C	241969734	G	C	241969734	3	2	160	1	0	0	0	0	1	0	0	0	14875	1175	41	1	253	1	SNED1	2	241969734	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3298432	241969734	1229639	400	28673										
D2HGDH	728294	genome.wustl.edu	37	chr2	242695372	242695372	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggctctacgacatcgtgactGacctgcgcgcccgcctcggc	12	17	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr2:242695372G>A	ENST00000321264.4	+	9	1458	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	D2HGDH_ENST00000486953.1_3'UTR|AC114730.7_ENST00000417267.1_RNA|D2HGDH_ENST00000403782.1_Missense_Mutation_p.D283N	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	417					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCGTGACTGACCTGCGCGC	0.692																																																	0													96	79	85					2																	242695372		2203	4296	6499	SO:0001583	missense	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1249G>A	2.37:g.242695372G>A	ENSP00000315351:p.Asp417Asn		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.D417N	ENST00000321264.4	37	c.1249	CCDS33426.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105034	0.77096	.	.	ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211	D;D	0.84298	-1.83;-1.83	5.31	5.31	0.75309	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.140827	0.51477	D	0.000082	D	0.89504	0.6734	M	0.83953	2.67	0.80722	D	1	B	0.28636	0.218	B	0.40009	0.316	D	0.87329	0.2323	10	0.33940	T	0.23	2.0E-4	18.9757	0.92735	0.0:0.0:1.0:0.0	.	417	Q8N465	D2HDH_HUMAN	N	417;283;37	ENSP00000315351:D417N;ENSP00000384723:D283N	ENSP00000315351:D417N	D	+	1	0	D2HGDH	242344045	1.000000	0.71417	0.906000	0.35671	0.072000	0.16883	6.819000	0.75262	2.485000	0.83878	0.467000	0.42956	GAC	D2HGDH	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C		0.692	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	D2HGDH	HGNC	protein_coding	OTTHUMT00000322794.2	G	NM_152783		242695372	1	no_errors	ENST00000321264	ensembl	human	known	70_37	missense	SNP	1.000	A	A	242695372	G	A	242695372	3	1	160	1	0	0	0	0	1	0	0	0	4218	1290	45	1	1279	1	D2HGDH	2	242695372	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	725638	242695372	504001	401	28674										
SETMAR	6419	genome.wustl.edu	37	chr3	4354762	4354762	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatctggaggaaagtatgcaGagcctgtttttgaatgcaat	12	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:4354762G>A	ENST00000358065.4	+	2	404	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SETMAR_ENST00000425863.1_Missense_Mutation_p.E113K|SETMAR_ENST00000462115.1_3'UTR|SETMAR_ENST00000430981.1_Missense_Mutation_p.E113K|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	113	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		AAAGTATGCAGAGCCTGTTTT	0.488								Chromatin Structure																																									0													78	66	70					3																	4354762		2203	4300	6503	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.337G>A	3.37:g.4354762G>A	ENSP00000373354:p.Glu113Lys		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E113K	ENST00000358065.4	37	c.337	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	0.062	-1.221432	0.01530	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	T;T;T	0.76316	-1.01;-1.01;-1.01	4.91	-5.44	0.02624	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	.	.	.	.	T	0.45994	0.1370	N	0.05351	-0.065	0.09310	N	1	B;B;B	0.16603	0.018;0.008;0.0	B;B;B	0.19946	0.027;0.01;0.001	T	0.47724	-0.9095	9	0.02654	T	1	.	3.6376	0.08155	0.5311:0.2545:0.1132:0.1011	.	113;100;113	E7EN68;Q53H47;C9JHK2	.;SETMR_HUMAN;.	K	113	ENSP00000373354:E113K;ENSP00000403000:E113K;ENSP00000403145:E113K	ENSP00000373354:E113K	E	+	1	0	SETMAR	4329762	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.503000	0.06383	-0.973000	0.03555	0.460000	0.39030	GAG	SETMAR	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom		0.488	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4354762	1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.000	A	A	4354762	G	A	4354762	3	1	160	1	0	0	0	0	1	0	0	0	14170	943	33	1	343	1	SETMAR	3	4354762	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		4354762	193667668	402	28675										
ITPR1	3708	genome.wustl.edu	37	chr3	4747945	4747945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgtgcagaaaacagccatGaactggcggctctcagcccg	11	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:4747945G>A	ENST00000443694.2	+	34	4707	c.4707G>A	c.(4705-4707)atG>atA	p.M1569I	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.M1575I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1584I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1575I|ITPR1_ENST00000456211.2_Missense_Mutation_p.M1560I|ITPR1_ENST00000302640.8_Missense_Mutation_p.M1569I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1584				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAACAGCCATGAACTGGCGGC	0.557																																																	0													51	55	54					3																	4747945		1999	4169	6168	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4707G>A	3.37:g.4747945G>A	ENSP00000401671:p.Met1569Ile		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1569I	ENST00000443694.2	37	c.4707	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887334	0.17540	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.26	4.36	0.52297	.	0.208186	0.50627	D	0.000104	T	0.51176	0.1659	L	0.34521	1.04	0.80722	D	1	B;B	0.22909	0.01;0.077	B;B	0.21917	0.013;0.037	T	0.43032	-0.9416	10	0.21014	T	0.42	.	15.8935	0.79318	0.0:0.1359:0.8641:0.0	.	1584;1575	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1584;1569;1584;1575;30;1575;1560;1569	ENSP00000306253:M1569I;ENSP00000346595:M1584I;ENSP00000405934:M1575I;ENSP00000349597:M1575I;ENSP00000397885:M1560I;ENSP00000401671:M1569I	ENSP00000306253:M1569I	M	+	3	0	ITPR1	4722945	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	2.790000	0.47821	1.291000	0.44653	0.655000	0.94253	ATG	ITPR1	-	NULL		0.557	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4747945	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4747945	G	A	4747945	3	1	160	1	0	0	0	0	1	0	0	0	7940	1290	45	1	4890	1	ITPR1	3	4747945	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	393183	4747945	193274485	403	28676										
SETD5	55209	genome.wustl.edu	37	chr3	9477417	9477417	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcatcatttttcaggtgggGatagcagtgcaacagaaagc	11	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9477417G>C	ENST00000406341.1	+	6	584	c.394G>C	c.(394-396)Gat>Cat	p.D132H	SETD5_ENST00000302463.6_Missense_Mutation_p.D21H|SETD5_ENST00000402466.1_Missense_Mutation_p.D21H|SETD5_ENST00000407969.1_Missense_Mutation_p.D151H|SETD5_ENST00000402198.1_Missense_Mutation_p.D132H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	132										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGGTGGGGATAGCAGTGC	0.423																																																	0													49	47	48					3																	9477417		1880	4134	6014	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.394G>C	3.37:g.9477417G>C	ENSP00000383939:p.Asp132His		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.D132H	ENST00000406341.1	37	c.394	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172158	0.78452	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	T;D;D;D;D;T;D	0.95272	1.03;-3.41;-3.66;-3.41;-3.27;0.33;-3.66	5.27	5.27	0.74061	.	0.056508	0.64402	D	0.000001	D	0.96648	0.8906	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.95;0.971	D	0.97037	0.9754	10	0.87932	D	0	-5.1009	19.2504	0.93923	0.0:0.0:1.0:0.0	.	21;132;151	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	H	132;132;21;132;151;21;21	ENSP00000413786:D132H;ENSP00000385852:D132H;ENSP00000384429:D21H;ENSP00000383939:D132H;ENSP00000384114:D151H;ENSP00000408837:D21H;ENSP00000302028:D21H	ENSP00000302028:D21H	D	+	1	0	SETD5	9452417	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.322000	0.96357	2.622000	0.88805	0.655000	0.94253	GAT	SETD5	-	NULL		0.423	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	G	XM_371614		9477417	1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9477417	G	C	9477417	3	2	160	1	0	0	0	0	1	0	0	0	14164	1174	41	1	412	1	SETD5	3	9477417	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4729472	9477417	188545013	404	28677										
BRPF1	7862	genome.wustl.edu	37	chr3	9783090	9783090	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctcggctgctcgtggaattGatccgcaagcgggaaaaact	13	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9783090G>C	ENST00000457855.1	+	4	1832	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	BRPF1_ENST00000383829.2_Missense_Mutation_p.L607F|BRPF1_ENST00000424362.1_Missense_Mutation_p.L607F|BRPF1_ENST00000433861.2_Missense_Mutation_p.L607F|BRPF1_ENST00000302054.3_Missense_Mutation_p.L607F			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	607	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCGTGGAATTGATCCGCAAGC	0.507																																																	0													53	61	59					3																	9783090		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1821G>C	3.37:g.9783090G>C	ENSP00000410210:p.Leu607Phe		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.L607F	ENST00000457855.1	37	c.1821	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267711	0.80469	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.20598	2.08;2.06;3.44;2.06;2.06	5.72	3.82	0.43975	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.996	T	0.45542	-0.9254	10	0.87932	D	0	.	3.5592	0.07875	0.1377:0.1398:0.5776:0.1448	.	607;607;607;607	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	F	607	ENSP00000402485:L607F;ENSP00000398863:L607F;ENSP00000373340:L607F;ENSP00000306297:L607F;ENSP00000410210:L607F	ENSP00000306297:L607F	L	+	3	2	BRPF1	9758090	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.563000	0.36364	1.397000	0.46682	0.655000	0.94253	TTG	BRPF1	-	superfamily_Bromodomain		0.507	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	G	NM_001003694		9783090	1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9783090	G	C	9783090	3	2	160	1	0	0	0	0	1	0	0	0	1523	1281	45	1	1835	1	BRPF1	3	9783090	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	305673	9783090	188239340	405	28678										
RPUSD3	285367	genome.wustl.edu	37	chr3	9882239	9882239	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgaccccatcaatgtgttCcagtttcagggcagcctgga	10	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9882239C>G	ENST00000383820.5	-	6	578	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	RPUSD3_ENST00000485705.1_5'Flank|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.E178Q|RPUSD3_ENST00000424438.1_Missense_Mutation_p.E161Q	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	193					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TCAATGTGTTCCAGTTTCAGG	0.552																																																	0													207	207	207					3																	9882239		2203	4300	6503	SO:0001583	missense	285367			BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.577G>C	3.37:g.9882239C>G	ENSP00000373331:p.Glu193Gln		B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.E193Q	ENST00000383820.5	37	c.577	CCDS2586.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.441083|1.441083	0.25900|0.25900	.|.	.|.	ENSG00000156990|ENSG00000156990	ENST00000433535;ENST00000383820;ENST00000424438;ENST00000418713|ENST00000423108;ENST00000427174	T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55|.	5.33|5.33	2.39|2.39	0.29439|0.29439	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);|.	0.205314|.	0.51477|.	N|.	0.000092|.	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.58428|0.58428	1.81|1.81	0.09310|0.09310	N|N	0.999997|0.999997	D;B;B|.	0.53312|.	0.959;0.214;0.137|.	P;B;B|.	0.53035|.	0.716;0.167;0.098|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.48119|.	T|.	0.1|.	.|.	8.6777|8.6777	0.34189|0.34189	0.0:0.4673:0.4499:0.0828|0.0:0.4673:0.4499:0.0828	.|.	185;178;193|.	B7Z3P5;Q6P087-2;Q6P087|.	.;.;RUSD3_HUMAN|.	Q|C	178;193;161;189|21;183	ENSP00000398921:E178Q;ENSP00000373331:E193Q;ENSP00000408693:E161Q;ENSP00000415616:E189Q|.	ENSP00000373331:E193Q|.	E|W	-|-	1|3	0|0	RPUSD3|RPUSD3	9857239|9857239	0.992000|0.992000	0.36948|0.36948	0.036000|0.036000	0.18154|0.18154	0.555000|0.555000	0.35460|0.35460	0.829000|0.829000	0.27449|0.27449	0.180000|0.180000	0.19960|0.19960	0.655000|0.655000	0.94253|0.94253	GAA|TGG	RPUSD3	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom		0.552	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	HGNC	protein_coding	OTTHUMT00000250238.1	C	NM_173659		9882239	-1	no_errors	ENST00000383820	ensembl	human	known	70_37	missense	SNP	0.264	G	G	9882239	C	G	9882239	3	3	160	1	0	0	0	0	1	0	0	0	13698	864	30	1	494	1	RPUSD3	3	9882239	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	99149	9882239	188140191	406	28679										
IL17RC	84818	genome.wustl.edu	37	chr3	9974953	9974953	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacgccttccgcgcctcgctCagctgcgtgctgcccgactt	11	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:9974953C>G	ENST00000295981.3	+	19	2270	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.L613L|IL17RC_ENST00000416074.2_Silent_p.L439L|IL17RC_ENST00000455057.1_Silent_p.L581L|CRELD1_ENST00000452070.1_5'Flank|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000413608.1_Silent_p.L600L|IL17RC_ENST00000383812.4_Silent_p.L598L|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000326434.5_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	684	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCGCCTCGCTCAGCTGCGTGC	0.731																																																	0													15	15	15					3																	9974953		2189	4255	6444	SO:0001819	synonymous_variant	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.2052C>G	3.37:g.9974953C>G			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	pfam_SEFIR	p.L684	ENST00000295981.3	37	c.2052	CCDS2590.1	3																																																																																			IL17RC	-	pfam_SEFIR		0.731	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	C	NM_032732		9974953	1	no_errors	ENST00000295981	ensembl	human	known	70_37	silent	SNP	1.000	G	G	9974953	C	G	9974953	2	3	160	1	0	0	0	0	0	0	0	1	7661	813	29	1		1	IL17RC	3	9974953	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	92714	9974953	188047477	407	28680										
CAND2	23066	genome.wustl.edu	37	chr3	12856710	12856710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggcagctgccaagtgcatCgcagccttgatcagctcgcg	13	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:12856710C>T	ENST00000456430.2	+	8	1118	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	CAND2_ENST00000295989.5_Silent_p.I266I	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	359					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAAGTGCATCGCAGCCTTGA	0.602																																					GBM(43;676 868 1633 6395 37496)												0													56	64	61					3																	12856710		2150	4251	6401	SO:0001819	synonymous_variant	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1077C>T	3.37:g.12856710C>T			B9EGM9|E9KL24	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.I359	ENST00000456430.2	37	c.1077	CCDS54554.1	3																																																																																			CAND2	-	superfamily_ARM-type_fold		0.602	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	C	XM_371617		12856710	1	no_errors	ENST00000456430	ensembl	human	known	70_37	silent	SNP	0.999	T	T	12856710	C	T	12856710	2	4	160	1	0	0	0	0	0	0	0	1	2621	874	31	1		1	CAND2	3	12856710	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2881757	12856710	185165720	408	28681										
FBLN2	2199	genome.wustl.edu	37	chr3	13669378	13669378	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacacctgccagccgggcttCttgtgccagaacaccaaggg	11	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:13669378C>T	ENST00000295760.7	+	10	2406	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	FBLN2_ENST00000535798.1_Silent_p.F805F|FBLN2_ENST00000492059.1_Silent_p.F826F|FBLN2_ENST00000404922.3_Silent_p.F826F	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	779	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGGCTTCTTGTGCCAGA	0.637																																																	0													40	45	43					3																	13669378		2074	4197	6271	SO:0001819	synonymous_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2337C>T	3.37:g.13669378C>T			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.F826	ENST00000295760.7	37	c.2478	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.637	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	C	NM_001004019		13669378	1	no_errors	ENST00000404922	ensembl	human	known	70_37	silent	SNP	0.528	T	T	13669378	C	T	13669378	2	4	160	1	0	0	0	0	0	0	0	1	5717	912	32	1		1	FBLN2	3	13669378	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	812668	13669378	184353052	409	28682										
C3orf20	84077	genome.wustl.edu	37	chr3	14731503	14731503	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctctctctctcccactccaGagtccctcgcaaacatgtcc	4	19	3	1	rs540775293		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:14731503G>C	ENST00000253697.3	+	5	1077		c.e5-1		C3orf20_ENST00000435614.1_Splice_Site|C3orf20_ENST00000412910.1_Splice_Site	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCCCACTCCAGAGTCCCTCGC	0.448																																																	0													96	99	98					3																	14731503		2203	4300	6503	SO:0001630	splice_region_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.626-1G>C	3.37:g.14731503G>C			Q7L0U6|Q8NCP2|Q9H0I7	Splice_Site	SNP	-	e3-1	ENST00000253697.3	37	c.626-1	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826815	0.32329	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4225	0.61007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf20	14706507	0.991000	0.36638	0.550000	0.28217	0.028000	0.11728	3.658000	0.54482	2.438000	0.82558	0.491000	0.48974	.	C3orf20	-	-		0.448	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	G	NM_032137	Intron	14731503	1	no_errors	ENST00000253697	ensembl	human	known	70_37	splice_site	SNP	0.553	C	C	14731503	G	C	14731503	5	2	160	1	0	0	0	0	0	0	1	0	2218	956	33	1	635	1	C3orf20	3	14731503	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1062125	14731503	183290927	410	28683										
NR2C2	7182	genome.wustl.edu	37	chr3	15062306	15062306	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaggttgcaaaggtttcttCaaaaggagtgtgaggaaaaa	13	3	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:15062306C>T	ENST00000425241.1	+	5	785	c.423C>T	c.(421-423)ttC>ttT	p.F141F	NR2C2_ENST00000323373.6_Silent_p.F160F|NR2C2_ENST00000406272.2_Silent_p.F141F|NR2C2_ENST00000393102.3_Silent_p.F141F			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	141					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTTTCTTCAAAAGGAGTG	0.443																																																	0													121	125	124					3																	15062306		2203	4300	6503	SO:0001819	synonymous_variant	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.423C>T	3.37:g.15062306C>T			A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.F160	ENST00000425241.1	37	c.480		3																																																																																			NR2C2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.443	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	C	NM_003298		15062306	1	no_errors	ENST00000323373	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15062306	C	T	15062306	2	4	160	1	0	0	0	0	0	0	0	1	10647	825	29	1		1	NR2C2	3	15062306	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	330803	15062306	182960124	411	28684										
NR2C2	7182	genome.wustl.edu	37	chr3	15079634	15079634	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taccttaaagctatagttctCtttagccccggtaagatatg	7	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:15079634C>G	ENST00000425241.1	+	12	1862	c.1500C>G	c.(1498-1500)ctC>ctG	p.L500L	NR2C2_ENST00000323373.6_Silent_p.L519L|NR2C2_ENST00000406272.2_Silent_p.L500L|NR2C2_ENST00000393102.3_Silent_p.L500L|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	500	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTATAGTTCTCTTTAGCCCCG	0.453																																																	0													166	145	152					3																	15079634		2203	4300	6503	SO:0001819	synonymous_variant	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1500C>G	3.37:g.15079634C>G			A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L519	ENST00000425241.1	37	c.1557		3																																																																																			NR2C2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.453	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	C	NM_003298		15079634	1	no_errors	ENST00000323373	ensembl	human	known	70_37	silent	SNP	1.000	G	G	15079634	C	G	15079634	2	3	160	1	0	0	0	0	0	0	0	1	10647	900	32	1		1	NR2C2	3	15079634	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	17328	15079634	182942796	412	28685										
DAZL	1618	genome.wustl.edu	37	chr3	16633616	16633616	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgttctctggattaaacaGacaagataccaccgtttgta	7	9	2	2	rs560183588		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:16633616G>C	ENST00000399444.2	-	10	1068	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V	DAZL_ENST00000250863.8_Missense_Mutation_p.L279V	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	259					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GGATTAAACAGACAAGATACC	0.378																																																	0													240	242	241					3																	16633616		2203	4300	6503	SO:0001583	missense	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.775C>G	3.37:g.16633616G>C	ENSP00000382373:p.Leu259Val		O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L259V	ENST00000399444.2	37	c.775	CCDS43059.1	3	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967907	0.53507	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.28895	1.59;1.61	5.19	3.11	0.35812	.	0.450726	0.22159	N	0.063802	T	0.41926	0.1180	M	0.76574	2.34	0.32802	D	0.50021	D;D	0.59767	0.986;0.986	P;P	0.56042	0.682;0.79	T	0.51545	-0.8692	10	0.15499	T	0.54	-2.7868	8.772	0.34737	0.2393:0.0:0.7607:0.0	.	259;279	Q92904;Q5HYB4	DAZL_HUMAN;.	V	279;259	ENSP00000250863:L279V;ENSP00000382373:L259V	ENSP00000250863:L279V	L	-	1	2	DAZL	16608620	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	2.543000	0.45752	1.174000	0.42811	0.561000	0.74099	CTG	DAZL	-	NULL		0.378	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZL	HGNC	protein_coding	OTTHUMT00000347261.2	G	NM_001351		16633616	-1	no_errors	ENST00000399444	ensembl	human	known	70_37	missense	SNP	0.998	C	C	16633616	G	C	16633616	3	2	160	1	0	0	0	0	1	0	0	0	4251	933	33	1	120	1	DAZL	3	16633616	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1553982	16633616	181388814	413	28686										
PLCL2	23228	genome.wustl.edu	37	chr3	17053435	17053435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccctgcagtccttaactgGagaggtccttgcacatgctt	9	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:17053435G>A	ENST00000418129.2	+	2	2684	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	PLCL2_ENST00000396755.2_Missense_Mutation_p.G740E|PLCL2_ENST00000432376.1_Missense_Mutation_p.G740E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	866					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCCTTAACTGGAGAGGTCCTT	0.483																																																	0													121	122	122					3																	17053435		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2219G>A	3.37:g.17053435G>A	ENSP00000409637:p.Gly740Glu		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G740E	ENST00000418129.2	37	c.2219	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.417210|4.417210	0.83449|0.83449	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.15834	.|2.39;2.39;2.39	5.44|5.44	4.55|4.55	0.56014|0.56014	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43919|0.43919	0.1269|0.1269	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	T|T	0.50021|0.50021	-0.8876|-0.8876	4|9	.|0.87932	.|D	.|0	.|.	15.7143|15.7143	0.77655|0.77655	0.0:0.0:0.862:0.138|0.0:0.0:0.862:0.138	.|.	.|866	.|Q9UPR0	.|PLCL2_HUMAN	K|E	484|740;867;740;740	.|ENSP00000409637:G740E;ENSP00000379979:G740E;ENSP00000412836:G740E	.|ENSP00000285094:G867E	E|G	+|+	1|2	0|0	PLCL2|PLCL2	17028439|17028439	1.000000|1.000000	0.71417|0.71417	0.736000|0.736000	0.30914|0.30914	0.964000|0.964000	0.63967|0.63967	9.807000|9.807000	0.99171|0.99171	1.395000|1.395000	0.46643|0.46643	0.491000|0.491000	0.48974|0.48974	GAG|GGA	PLCL2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.483	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17053435	1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	0.999	A	A	17053435	G	A	17053435	3	1	160	1	0	0	0	0	1	0	0	0	12064	1174	41	1	2597	1	PLCL2	3	17053435	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	419819	17053435	180968995	414	28687										
KAT2B	8850	genome.wustl.edu	37	chr3	20178473	20178473	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaatcatttgaaagaatatCacataaagcatgacatcctg	6	7	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:20178473C>G	ENST00000263754.4	+	12	2244	c.1789C>G	c.(1789-1791)Cac>Gac	p.H597D	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	597	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAAAGAATATCACATAAAGCA	0.358																																																	0													135	117	123					3																	20178473		2203	4300	6503	SO:0001583	missense	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1789C>G	3.37:g.20178473C>G	ENSP00000263754:p.His597Asp		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.H597D	ENST00000263754.4	37	c.1789	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993859	0.93167	.	.	ENSG00000114166	ENST00000263754	T	0.23552	1.9	5.66	5.66	0.87406	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50127	-0.8864	10	0.56958	D	0.05	-23.0862	20.1253	0.97977	0.0:1.0:0.0:0.0	.	597	Q92831	KAT2B_HUMAN	D	597	ENSP00000263754:H597D	ENSP00000263754:H597D	H	+	1	0	KAT2B	20153477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CAC	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.358	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	C	NM_003884		20178473	1	no_errors	ENST00000263754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20178473	C	G	20178473	3	3	160	1	0	0	0	0	1	0	0	0	8002	826	29	1	1835	1	KAT2B	3	20178473	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3125038	20178473	177843957	415	28688										
TOP2B	7155	genome.wustl.edu	37	chr3	25683865	25683865	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttatccctctgtttattgtCagcagcattaactacaaaat	4	10	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:25683865C>G	ENST00000264331.4	-	4	342	c.343G>C	c.(343-345)Gac>Cac	p.D115H	TOP2B_ENST00000435706.2_Missense_Mutation_p.D110H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	115					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTTTATTGTCAGCAGCATTA	0.259																																																	0													33	31	32					3																	25683865		1738	3977	5715	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.343G>C	3.37:g.25683865C>G	ENSP00000264331:p.Asp115His		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.D115H	ENST00000264331.4	37	c.343		3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849007	0.91277	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T;T	0.58358	0.34;0.34;0.34	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85243	0.5652	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90499	0.4472	10	0.87932	D	0	-1.9092	20.3606	0.98856	0.0:1.0:0.0:0.0	.	110	Q02880-2	.	H	110;115;110	ENSP00000396704:D110H;ENSP00000264331:D115H;ENSP00000391112:D110H	ENSP00000264331:D115H	D	-	1	0	TOP2B	25658869	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.625000	0.83145	2.817000	0.96982	0.557000	0.71058	GAC	TOP2B	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_Topo_IIA,prints_Topo_IIA		0.259	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		C			25683865	-1	no_errors	ENST00000264331	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25683865	C	G	25683865	3	3	160	1	0	0	0	0	1	0	0	0	16397	826	29	1	4669	1	TOP2B	3	25683865	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5505392	25683865	172338565	416	28689										
OXSM	54995	genome.wustl.edu	37	chr3	25833167	25833167	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctcatgctgtgggagactCatttagatttatagcccatg	10	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:25833167C>G	ENST00000280701.3	+	2	755	c.656C>G	c.(655-657)tCa>tGa	p.S219*	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Nonsense_Mutation_p.S219*|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	219					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTGGGAGACTCATTTAGATTT	0.488																																																	0													116	114	114					3																	25833167		2203	4300	6503	SO:0001587	stop_gained	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.656C>G	3.37:g.25833167C>G	ENSP00000280701:p.Ser219*			Nonsense_Mutation	SNP	pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.S219*	ENST00000280701.3	37	c.656	CCDS2643.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.133435	0.94517	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	6.16	0.99307	.	0.100444	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.352	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	219	.	ENSP00000280701:S219X	S	+	2	0	OXSM	25808171	1.000000	0.71417	0.968000	0.41197	0.893000	0.52053	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	TCA	OXSM	-	pfam_Ketoacyl_synth_N,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2		0.488	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	HGNC	protein_coding	OTTHUMT00000252876.2	C	NM_017897		25833167	1	no_errors	ENST00000280701	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	25833167	C	G	25833167	4	3	160	1	0	0	0	0	0	1	0	0	11359	838	29	1	658	1	OXSM	3	25833167	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	149302	25833167	172189263	417	28690										
NEK10	152110	genome.wustl.edu	37	chr3	27343240	27343240	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctagggctcaagtcttctGataaatgaagctgctggatt	10	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:27343240G>C	ENST00000429845.2	-	14	1477	c.1115C>G	c.(1114-1116)tCa>tGa	p.S372*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.S372*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	372					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAGTCTTCTGATAAATGAAG	0.363																																																	0													39	35	36					3																	27343240		1566	3578	5144	SO:0001587	stop_gained	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1115C>G	3.37:g.27343240G>C	ENSP00000395849:p.Ser372*		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S372*	ENST00000429845.2	37	c.1115		3	.	.	.	.	.	.	.	.	.	.	G	39	7.676785	0.98428	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	.	.	.	5.07	4.18	0.49190	.	1.007080	0.07975	N	0.984722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	8.351	0.32303	0.0789:0.0:0.7658:0.1552	.	.	.	.	X	372	.	ENSP00000343847:S372X	S	-	2	0	NEK10	27318244	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.180000	0.58296	2.509000	0.84616	0.585000	0.79938	TCA	NEK10	-	superfamily_ARM-type_fold		0.363	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	G	NM_152534		27343240	-1	no_errors	ENST00000341435	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	27343240	G	C	27343240	4	2	160	1	0	0	0	0	0	1	0	0	10346	1294	45	1	1071	1	NEK10	3	27343240	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1510073	27343240	170679190	418	28691										
SLC4A7	9497	genome.wustl.edu	37	chr3	27493983	27493983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccacaacagcttcttcatCaggaccctaaaaacaaatta	3	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:27493983C>T	ENST00000295736.5	-	2	110	c.40G>A	c.(40-42)Gat>Aat	p.D14N	SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.D19N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D14N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D23N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.D23N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D23N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D23N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D19N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D19N|SLC4A7_ENST00000425128.2_Missense_Mutation_p.D19N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	14					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GCTTCTTCATCAGGACCCTAA	0.333																																																	0													97	89	92					3																	27493983		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.40G>A	3.37:g.27493983C>T	ENSP00000295736:p.Asp14Asn		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.D23N	ENST00000295736.5	37	c.67	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823163	0.90873	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;D;T;D;T;D;T;T;T	0.82167	-1.45;-1.4;-1.48;-1.58;-1.34;-1.51;-1.35;-1.58;-1.41;-0.08;-1.37	5.55	5.55	0.83447	.	0.107942	0.64402	D	0.000012	D	0.91938	0.7447	M	0.84433	2.695	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.991;0.999;0.998;0.993;0.999;0.995;0.993;0.991	D;D;D;D;D;D;D;D;D	0.81914	0.991;0.91;0.991;0.995;0.984;0.968;0.959;0.984;0.91	D	0.91706	0.5377	10	0.45353	T	0.12	.	18.2701	0.90065	0.0:1.0:0.0:0.0	.	23;19;19;23;23;19;14;14;19	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	N	14;14;23;23;19;19;19;23;23;19;14	ENSP00000295736:D14N;ENSP00000416368:D14N;ENSP00000390394:D23N;ENSP00000414797:D23N;ENSP00000394252:D19N;ENSP00000406605:D19N;ENSP00000407382:D19N;ENSP00000406804:D23N;ENSP00000395336:D23N;ENSP00000401949:D19N;ENSP00000388703:D14N	ENSP00000295736:D14N	D	-	1	0	SLC4A7	27468987	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.994000	0.63901	2.603000	0.88011	0.591000	0.81541	GAT	SLC4A7	-	NULL		0.333	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	C	NM_003615		27493983	-1	no_errors	ENST00000454389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27493983	C	T	27493983	3	4	160	1	0	0	0	0	1	0	0	0	14688	826	29	1	3700	1	SLC4A7	3	27493983	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	150743	27493983	170528447	419	28692										
EOMES	8320	genome.wustl.edu	37	chr3	27758889	27758889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttcctctggtaagaacctCgacctccccaccctgccatt	5	18	2	1	rs141551851	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:27758889C>T	ENST00000295743.4	-	6	1936	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	EOMES_ENST00000537516.1_Missense_Mutation_p.R302Q|EOMES_ENST00000449599.1_Missense_Mutation_p.R597Q|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	578	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTAAGAACCTCGACCTCCCCA	0.527													C|||	2	0.000399361	0.0015	0	5008	,	,		17382	0		0	False		,,,				2504	0																0								C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	64	67	66		1733	4.2	0.2	3	dbSNP_134	66	0,8600		0,0,4300	no	missense	EOMES	NM_005442.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	578/687	27758889	3,13003	2203	4300	6503	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1733G>A	3.37:g.27758889C>T	ENSP00000295743:p.Arg578Gln		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R597Q	ENST00000295743.4	37	c.1790	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863135	0.71949	6.81E-4	0.0	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.86769	-2.13;-2.17;-1.82	5.05	4.18	0.49190	.	0.103919	0.64402	D	0.000006	D	0.92792	0.7708	M	0.79475	2.455	0.58432	D	0.999999	D;D;D	0.89917	0.981;1.0;1.0	P;D;D	0.91635	0.644;0.999;0.997	D	0.93167	0.6563	10	0.54805	T	0.06	.	14.1001	0.65049	0.0:0.9265:0.0:0.0735	.	311;597;578	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	Q	578;597;302;462	ENSP00000295743:R578Q;ENSP00000388620:R597Q;ENSP00000442097:R302Q	ENSP00000295743:R578Q	R	-	2	0	EOMES	27733893	1.000000	0.71417	0.188000	0.23233	0.977000	0.68977	5.701000	0.68325	1.447000	0.47661	0.563000	0.77884	CGA	EOMES	-	NULL		0.527	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	C	NM_005442		27758889	-1	no_errors	ENST00000449599	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27758889	C	T	27758889	3	4	160	1	0	0	0	0	1	0	0	0	5159	884	31	1	331	1	EOMES	3	27758889	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	264906	27758889	170263541	420	28693										
TRANK1	9881	genome.wustl.edu	37	chr3	36899397	36899397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctaacagcttcttcacgcGctttagcatgcccttctgga	8	13	4	0	rs370656520		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:36899397G>A	ENST00000429976.2	-	12	1931	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TRANK1_ENST00000301807.6_Missense_Mutation_p.R12C|TRANK1_ENST00000428977.2_Missense_Mutation_p.R12C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	562							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTTCACGCGCTTTAGCATG	0.493																																																	0								G	CYS/ARG	1,4005		0,1,2002	100	93	95		1684	4.7	0.9	3		95	1,8385		0,1,4192	no	missense	TRANK1	NM_014831.2	180	0,2,6194	AA,AG,GG		0.0119,0.025,0.0161	possibly-damaging	562/2926	36899397	2,12390	2003	4193	6196	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1684C>T	3.37:g.36899397G>A	ENSP00000416168:p.Arg562Cys		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R562C	ENST00000429976.2	37	c.1684	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703369	0.48412	2.5E-4	1.19E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.51574	1.75;0.7;1.75	5.6	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.448050	0.19526	N	0.112143	T	0.50548	0.1622	L	0.55103	1.725	0.45791	D	0.998671	D	0.71674	0.998	P	0.47528	0.549	T	0.55724	-0.8096	10	0.66056	D	0.02	.	13.9921	0.64374	0.0:0.0:0.7254:0.2746	.	562	O15050	TRNK1_HUMAN	C	12;562;12	ENSP00000416826:R12C;ENSP00000416168:R562C;ENSP00000301807:R12C	ENSP00000301807:R12C	R	-	1	0	TRANK1	36874401	1.000000	0.71417	0.908000	0.35775	0.110000	0.19582	5.677000	0.68142	1.489000	0.48450	0.655000	0.94253	CGC	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36899397	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	missense	SNP	0.979	A	A	36899397	G	A	36899397	3	1	160	1	0	0	0	0	1	0	0	0	16485	1087	38	2	7141	2	TRANK1	3	36899397	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9140508	36899397	161123033	421	28694										
EPM2AIP1	9852	genome.wustl.edu	37	chr3	37033287	37033287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagtctgttagatttttttCctcaatatgtctttgaaata	5	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:37033287C>T	ENST00000322716.5	-	1	1508	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	428					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AGATTTTTTTCCTCAATATGT	0.343																																																	0													52	53	53					3																	37033287		1836	4086	5922	SO:0001583	missense	9852			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1282G>A	3.37:g.37033287C>T	ENSP00000406027:p.Glu428Lys		O94866|Q9H3L3	Missense_Mutation	SNP	NULL	p.E428K	ENST00000322716.5	37	c.1282	CCDS46790.1	3	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036096	0.35893	.	.	ENSG00000178567	ENST00000322716	T	0.14391	2.51	4.52	4.52	0.55395	.	.	.	.	.	T	0.10809	0.0264	N	0.25890	0.77	0.09310	N	1	P	0.40834	0.73	B	0.41917	0.37	T	0.14420	-1.0473	9	0.14656	T	0.56	-17.1873	10.6236	0.45495	0.0:0.8053:0.1947:0.0	.	428	Q7L775	EPMIP_HUMAN	K	428	ENSP00000406027:E428K	ENSP00000406027:E428K	E	-	1	0	EPM2AIP1	37008291	0.467000	0.25831	0.948000	0.38648	0.742000	0.42306	2.503000	0.45407	2.330000	0.79161	0.655000	0.94253	GAA	EPM2AIP1	-	NULL		0.343	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	C	NM_014805		37033287	-1	no_errors	ENST00000322716	ensembl	human	known	70_37	missense	SNP	0.107	T	T	37033287	C	T	37033287	3	4	160	1	0	0	0	0	1	0	0	0	5196	864	30	1	545	1	EPM2AIP1	3	37033287	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133890	37033287	160989143	422	28695										
C3orf35	339883	genome.wustl.edu	37	chr3	37458809	37458809	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactttccagaacaggcccaGaatttgaaaatgtgataaag	8	7	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:37458809G>C	ENST00000328376.5	+	5	1031	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	C3orf35_ENST00000425932.1_Missense_Mutation_p.E18Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.E18Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000426078.1_Missense_Mutation_p.E18Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.E18Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	18						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AACAGGCCCAGAATTTGAAAA	0.388																																																	0													97	93	94					3																	37458809		1822	4078	5900	SO:0001583	missense	339883			AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"AP20 region protein", "APRG1 tumor suppressor candidate"	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.52G>C	3.37:g.37458809G>C	ENSP00000331625:p.Glu18Gln		B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	NULL	p.E18Q	ENST00000328376.5	37	c.52	CCDS43065.1	3	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776315	0.31411	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.55052	0.54	4.24	3.36	0.38483	.	.	.	.	.	T	0.30039	0.0752	N	0.08118	0	0.09310	N	1	B;P	0.35982	0.378;0.531	B;B	0.32533	0.147;0.143	T	0.14643	-1.0465	9	0.87932	D	0	.	8.0808	0.30744	0.1091:0.0:0.8909:0.0	.	18;18	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	Q	18	ENSP00000331625:E18Q	ENSP00000331625:E18Q	E	+	1	0	C3orf35	37433813	0.031000	0.19500	0.298000	0.25002	0.739000	0.42172	1.318000	0.33643	1.369000	0.46134	0.563000	0.77884	GAA	C3orf35	-	NULL		0.388	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C3orf35	HGNC	protein_coding	OTTHUMT00000342344.2	G	NM_178338		37458809	1	no_errors	ENST00000328376	ensembl	human	known	70_37	missense	SNP	0.405	C	C	37458809	G	C	37458809	3	2	160	1	0	0	0	0	1	0	0	0	2230	943	33	1	54	1	C3orf35	3	37458809	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	425522	37458809	160563621	423	28696										
DLEC1	9940	genome.wustl.edu	37	chr3	38101276	38101276	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atagacagcgagttgctacgGaaacatcatttgatctcccc	8	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:38101276G>A	ENST00000308059.6	+	3	627	c.606G>A	c.(604-606)cgG>cgA	p.R202R	DLEC1_ENST00000346219.3_Silent_p.R202R|DLEC1_ENST00000452631.2_Silent_p.R202R					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGTTGCTACGGAAACATCATT	0.468																																																	0													210	203	205					3																	38101276		1933	4148	6081	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.606G>A	3.37:g.38101276G>A				Silent	SNP	superfamily_PapD-like	p.R202	ENST00000308059.6	37	c.606	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.468	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	G	NM_007337		38101276	1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	0.047	A	A	38101276	G	A	38101276	2	1	160	1	0	0	0	0	0	0	0	1	4562	1161	41	1		1	DLEC1	3	38101276	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	642467	38101276	159921154	424	28697										
CCK	885	genome.wustl.edu	37	chr3	42305093	42305093	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagccgccagtaccgccatCagcacgcacaggcacacgcc	9	20	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:42305093C>T	ENST00000396169.2	-	4	935	c.30G>A	c.(28-30)ctG>ctA	p.L10L	CCK_ENST00000434608.1_Silent_p.L10L|CCK_ENST00000334681.5_Silent_p.L10L	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GTACCGCCATCAGCACGCACA	0.711																																																	0													9	10	10					3																	42305093		2111	4143	6254	SO:0001819	synonymous_variant	885				CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"Endogenous ligands"	1569	protein-coding gene	gene with protein product	"prepro-cholecystokinin", "cholecystokinin triacontatriapeptide"	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.30G>A	3.37:g.42305093C>T				Silent	SNP	pfam_Gastrin,smart_Gastrin	p.L10	ENST00000396169.2	37	c.30	CCDS2696.1	3																																																																																			CCK	-	pfam_Gastrin		0.711	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCK	HGNC	protein_coding	OTTHUMT00000343380.1	C	NM_000729		42305093	-1	no_errors	ENST00000334681	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42305093	C	T	42305093	2	4	160	1	0	0	0	0	0	0	0	1	2884	813	29	1		1	CCK	3	42305093	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4203817	42305093	155717337	425	28698										
ANO10	55129	genome.wustl.edu	37	chr3	43621890	43621890	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgagtgtaccaggtgtcctCaagcttcttcagggcttcac	10	13	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:43621890C>G	ENST00000292246.3	-	5	717	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ANO10_ENST00000396091.3_Missense_Mutation_p.E117Q|ANO10_ENST00000350459.4_Missense_Mutation_p.E183Q|ANO10_ENST00000414522.2_Missense_Mutation_p.E183Q|ANO10_ENST00000451430.2_Missense_Mutation_p.E72Q	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	183					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAGGTGTCCTCAAGCTTCTTC	0.463																																																	0													201	157	172					3																	43621890		2203	4300	6503	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.547G>C	3.37:g.43621890C>G	ENSP00000292246:p.Glu183Gln		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.E183Q	ENST00000292246.3	37	c.547	CCDS2710.2	3	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780067	0.31502	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430;ENST00000428472	T;T;T;T;T;T	0.69435	0.26;-0.4;0.26;0.29;0.1;-0.04	5.61	5.61	0.85477	.	0.246954	0.44097	D	0.000498	T	0.41743	0.1172	N	0.12569	0.235	0.20403	N	0.999901	B;B;P;B;B	0.37276	0.099;0.027;0.589;0.046;0.027	B;B;B;B;B	0.33454	0.045;0.027;0.164;0.022;0.027	T	0.30179	-0.9987	10	0.30854	T	0.27	.	6.1177	0.20136	0.1396:0.653:0.1347:0.0727	.	72;183;183;117;183	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;.;ANO10_HUMAN	Q	183;183;117;183;72;72	ENSP00000292246:E183Q;ENSP00000327767:E183Q;ENSP00000379398:E117Q;ENSP00000396990:E183Q;ENSP00000394119:E72Q;ENSP00000416266:E72Q	ENSP00000292246:E183Q	E	-	1	0	ANO10	43596894	0.656000	0.27385	0.961000	0.40146	0.988000	0.76386	1.398000	0.34554	2.632000	0.89209	0.591000	0.81541	GAG	ANO10	-	NULL		0.463	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	C	NM_018075		43621890	-1	no_errors	ENST00000292246	ensembl	human	known	70_37	missense	SNP	0.387	G	G	43621890	C	G	43621890	3	3	160	1	0	0	0	0	1	0	0	0	696	835	29	1	1471	1	ANO10	3	43621890	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1316797	43621890	154400540	426	28699										
C3orf23	285343	genome.wustl.edu	37	chr3	44409093	44409093	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctctcaaagaagctaaaagGatgcctgacaggcccatcaa	8	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44409093G>C	ENST00000342649.4	+	5	892	c.465G>C	c.(463-465)agG>agC	p.R155S	TCAIM_ENST00000417237.1_Missense_Mutation_p.R155S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	155						mitochondrion (GO:0005739)											AAGCTAAAAGGATGCCTGACA	0.413																																																	0													68	65	66					3																	44409093		2203	4300	6503	SO:0001583	missense	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.465G>C	3.37:g.44409093G>C	ENSP00000341539:p.Arg155Ser		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.R155S	ENST00000342649.4	37	c.465	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	5.603	0.296103	0.10622	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.42513	0.97;0.97	5.8	2.8	0.32819	.	0.637913	0.18418	N	0.141824	T	0.13927	0.0337	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21314	-1.0249	10	0.07325	T	0.83	.	1.19	0.01863	0.3224:0.1518:0.3875:0.1383	.	155	Q8N3R3	CC023_HUMAN	S	155	ENSP00000402581:R155S;ENSP00000341539:R155S	ENSP00000341539:R155S	R	+	3	2	C3orf23	44384097	0.000000	0.05858	0.006000	0.13384	0.998000	0.95712	0.437000	0.21543	0.746000	0.32786	0.650000	0.86243	AGG	TCAIM	-	NULL		0.413	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	G	NM_173826		44409093	1	no_errors	ENST00000342649	ensembl	human	known	70_37	missense	SNP	0.000	C	C	44409093	G	C	44409093	3	2	160	1	0	0	0	0	1	0	0	0	2221	1165	41	1	531	1	C3orf23	3	44409093	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	787203	44409093	153613337	427	28700										
KIAA1143	57456	genome.wustl.edu	37	chr3	44794861	44794861	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttcatcttcgttgtcaaaaGaaaggaggctactattttta	7	6	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:44794861G>C	ENST00000296121.4	-	3	496	c.437C>G	c.(436-438)tCt>tGt	p.S146C	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	146										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		GTTGTCAAAAGAAAGGAGGCT	0.299																																																	0													69	77	75					3																	44794861		2202	4295	6497	SO:0001583	missense	57456			AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.437C>G	3.37:g.44794861G>C	ENSP00000296121:p.Ser146Cys		A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	NULL	p.S146C	ENST00000296121.4	37	c.437	CCDS2721.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233652	0.79688	.	.	ENSG00000163807	ENST00000296121	T	0.74002	-0.8	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90260	0.4300	10	0.87932	D	0	-7.7777	18.6494	0.91425	0.0:0.0:1.0:0.0	.	146	Q96AT1	K1143_HUMAN	C	146	ENSP00000296121:S146C	ENSP00000296121:S146C	S	-	2	0	KIAA1143	44769865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.672000	0.74477	2.565000	0.86533	0.460000	0.39030	TCT	KIAA1143	-	NULL		0.299	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1143	HGNC	protein_coding	OTTHUMT00000256746.1	G	NM_020696		44794861	-1	no_errors	ENST00000296121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44794861	G	C	44794861	3	2	160	1	0	0	0	0	1	0	0	0	8229	942	33	1	31	1	KIAA1143	3	44794861	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	385768	44794861	153227569	428	28701										
LIMD1	8994	genome.wustl.edu	37	chr3	45714190	45714190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctctgctccagatcctgcaAgccctggggaagtcctacca	9	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:45714190A>G	ENST00000273317.4	+	5	1671	c.1650A>G	c.(1648-1650)caA>caG	p.Q550Q	LIMD1_ENST00000440097.1_Silent_p.Q550Q|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	550	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGATCCTGCAAGCCCTGGGGA	0.532																																																	0													128	113	118					3																	45714190		2203	4300	6503	SO:0001819	synonymous_variant	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1650A>G	3.37:g.45714190A>G			Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q550	ENST00000273317.4	37	c.1650	CCDS2729.1	3																																																																																			LIMD1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.532	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	A	NM_014240		45714190	1	no_errors	ENST00000273317	ensembl	human	known	70_37	silent	SNP	1.000	G	G	45714190	A	G	45714190	2	3	160	1	0	0	0	0	0	0	0	1	8818	69	3	5		5	LIMD1	3	45714190	Silent	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	919329	45714190	152308240	429	28702										
CCR9	10803	genome.wustl.edu	37	chr3	45942949	45942949	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgaaggtcattctggggttCttccttcccttcgtggtcat	10	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:45942949C>T	ENST00000357632.2	+	3	849	c.669C>T	c.(667-669)ttC>ttT	p.F223F	CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Silent_p.F211F|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.F211F	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	223					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TTCTGGGGTTCTTCCTTCCCT	0.493																																																	0													183	162	169					3																	45942949		2203	4300	6503	SO:0001819	synonymous_variant	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.669C>T	3.37:g.45942949C>T			Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4	p.F223	ENST00000357632.2	37	c.669	CCDS2732.1	3																																																																																			CCR9	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR11		0.493	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	C			45942949	1	no_errors	ENST00000357632	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45942949	C	T	45942949	2	4	160	1	0	0	0	0	0	0	0	1	2953	912	32	1		1	CCR9	3	45942949	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	228759	45942949	152079481	430	28703										
FYCO1	79443	genome.wustl.edu	37	chr3	46008803	46008803	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagctcgcctccatctggtCacccaagtgccggatgctgg	11	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:46008803C>T	ENST00000296137.2	-	8	2228	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	FYCO1_ENST00000535325.1_Missense_Mutation_p.D675N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	675					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCATCTGGTCACCCAAGTGC	0.622																																																	0													60	65	64					3																	46008803		2203	4299	6502	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2023G>A	3.37:g.46008803C>T	ENSP00000296137:p.Asp675Asn		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.D675N	ENST00000296137.2	37	c.2023	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575778	0.13623	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21031	2.03;2.03	5.62	3.82	0.43975	.	0.759254	0.12957	N	0.425371	T	0.13500	0.0327	L	0.35723	1.085	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39583	-0.9607	10	0.10111	T	0.7	-13.9395	5.1746	0.15127	0.2061:0.619:0.0:0.1749	.	675;675	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	675	ENSP00000296137:D675N;ENSP00000441178:D675N	ENSP00000296137:D675N	D	-	1	0	FYCO1	45983807	0.008000	0.16893	0.599000	0.28851	0.603000	0.37013	1.310000	0.33551	0.718000	0.32166	0.655000	0.94253	GAC	FYCO1	-	superfamily_Prefoldin		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46008803	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.004	T	T	46008803	C	T	46008803	3	4	160	1	0	0	0	0	1	0	0	0	6143	826	29	1	2457	1	FYCO1	3	46008803	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	65854	46008803	152013627	431	28704										
CCR1	1230	genome.wustl.edu	37	chr3	46245498	46245498	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggatcttacacatggcatCaccaaaaacccagtcatcct	6	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:46245498C>T	ENST00000296140.3	-	2	432	c.307G>A	c.(307-309)Gat>Aat	p.D103N	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	103					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACATGGCATCACCAAAAACC	0.483																																																	0													157	152	153					3																	46245498		2203	4300	6503	SO:0001583	missense	1230				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.307G>A	3.37:g.46245498C>T	ENSP00000296140:p.Asp103Asn		Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.D103N	ENST00000296140.3	37	c.307	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.077355	0.00375	.	.	ENSG00000163823	ENST00000296140	T	0.72167	-0.63	4.86	-9.71	0.00518	GPCR, rhodopsin-like superfamily (1);	0.432853	0.22889	N	0.054403	T	0.36413	0.0966	N	0.10874	0.06	0.18873	N	0.999989	B	0.06786	0.001	B	0.10450	0.005	T	0.41734	-0.9492	10	0.02654	T	1	.	11.2764	0.49170	0.0:0.2287:0.1644:0.6069	.	103	P32246	CCR1_HUMAN	N	103	ENSP00000296140:D103N	ENSP00000296140:D103N	D	-	1	0	CCR1	46220502	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.612000	0.05616	-2.450000	0.00543	-1.654000	0.00755	GAT	CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.483	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	C	NM_001295		46245498	-1	no_errors	ENST00000296140	ensembl	human	known	70_37	missense	SNP	0.000	T	T	46245498	C	T	46245498	3	4	160	1	0	0	0	0	1	0	0	0	2944	826	29	1	764	1	CCR1	3	46245498	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	236695	46245498	151776932	432	28705										
MYL3	4634	genome.wustl.edu	37	chr3	46900986	46900986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcgtggccagcacgtggcGaagctcagcacccatgacag	13	14	1	1	rs143852164		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:46900986G>A	ENST00000395869.1	-	4	511	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	MYL3_ENST00000292327.4_Missense_Mutation_p.R154C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	154	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> H (in CMH8; with mid-left ventricular chamber thickening). {ECO:0000269|PubMed:8673105}.		cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		AGCACGTGGCGAAGCTCAGCA	0.617																																					Melanoma(166;130 1949 2249 18977 46142)												0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	159	142	148		460	4.3	1	3	dbSNP_134	148	0,8600		0,0,4300	no	missense	MYL3	NM_000258.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	154/196	46900986	1,13005	2203	4300	6503	SO:0001583	missense	4634				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.460C>T	3.37:g.46900986G>A	ENSP00000379210:p.Arg154Cys		B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R154C	ENST00000395869.1	37	c.460	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581105	0.65992	2.27E-4	0.0	ENSG00000160808	ENST00000395869;ENST00000292327	D;D	0.87650	-2.28;-2.28	4.26	4.26	0.50523	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	H	0.95437	3.67	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.96087	0.9058	10	0.72032	D	0.01	-20.5476	14.5542	0.68089	0.0:0.0:1.0:0.0	.	154	P08590	MYL3_HUMAN	C	154	ENSP00000379210:R154C;ENSP00000292327:R154C	ENSP00000292327:R154C	R	-	1	0	MYL3	46875990	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.121000	0.64691	2.380000	0.81148	0.561000	0.74099	CGC	MYL3	-	pfscan_EF_HAND_2		0.617	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	G	NM_000258		46900986	-1	no_errors	ENST00000292327	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46900986	G	A	46900986	3	1	160	1	0	0	0	0	1	0	0	0	10071	1058	37	1	139	1	MYL3	3	46900986	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	655488	46900986	151121444	433	28706										
PTPN23	25930	genome.wustl.edu	37	chr3	47449934	47449934	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggagaagtgcgcggctctCagcgtccggcccgacactgt	14	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:47449934C>T	ENST00000265562.4	+	15	1361	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	PTPN23_ENST00000431726.1_Silent_p.L302L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	428					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCGGCTCTCAGCGTCCGGC	0.577																																																	0													94	80	84					3																	47449934		2203	4300	6503	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1284C>T	3.37:g.47449934C>T			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L428	ENST00000265562.4	37	c.1284	CCDS2754.1	3																																																																																			PTPN23	-	NULL		0.577	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	C	NM_015466		47449934	1	no_errors	ENST00000265562	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47449934	C	T	47449934	2	4	160	1	0	0	0	0	0	0	0	1	12818	813	29	1		1	PTPN23	3	47449934	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	548948	47449934	150572496	434	28707										
MAP4	4134	genome.wustl.edu	37	chr3	47950973	47950973	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcaaactatctgaacctttGgaatttctatcttgagcatt	5	8	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:47950973G>A	ENST00000360240.6	-	8	2518				MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Silent_p.S1663S|MAP4_ENST00000264724.11_Silent_p.S253S|MAP4_ENST00000395734.3_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTGAACCTTTGGAATTTCTAT	0.353																																																	0													149	150	149					3																	47950973		1831	4077	5908	SO:0001627	intron_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5333C>T	3.37:g.47950973G>A			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.S253	ENST00000360240.6	37	c.759	CCDS33750.1	3																																																																																			MAP4	-	NULL		0.353	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	G	NM_002375		47950973	-1	no_errors	ENST00000264724	ensembl	human	known	70_37	silent	SNP	0.000	A	A	47950973	G	A	47950973	1	1	160	0	1	0	0	0	0	0	0	0	9281	1335	47	4		4	MAP4	3	47950973	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	501039	47950973	150071457	435	28708										
CDC25A	993	genome.wustl.edu	37	chr3	48228245	48228245	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagattactgttgttcttCacctccagtggttgctcata	8	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48228245C>T	ENST00000302506.3	-	2	603	c.195G>A	c.(193-195)gtG>gtA	p.V65V	CDC25A_ENST00000351231.3_Silent_p.V65V	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	65					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGTTGTTCTTCACCTCCAGTG	0.408																																																	0													91	77	82					3																	48228245		2203	4299	6502	SO:0001819	synonymous_variant	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.195G>A	3.37:g.48228245C>T			Q8IZH5|Q96IL3|Q9H2F2	Silent	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.V65	ENST00000302506.3	37	c.195	CCDS2760.1	3																																																																																			CDC25A	-	NULL		0.408	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	C	NM_001789		48228245	-1	no_errors	ENST00000302506	ensembl	human	known	70_37	silent	SNP	0.873	T	T	48228245	C	T	48228245	2	4	160	1	0	0	0	0	0	0	0	1	3067	813	29	1		1	CDC25A	3	48228245	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	277272	48228245	149794185	436	28709										
COL7A1	1294	genome.wustl.edu	37	chr3	48624494	48624494	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcacggtgagcattgtcttGagtggcatgtggtaggaaca	15	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48624494G>C	ENST00000328333.8	-	24	3294	c.3187C>G	c.(3187-3189)Caa>Gaa	p.Q1063E	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q1063E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1063	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATTGTCTTGAGTGGCATGT	0.612																																																	0													76	64	68					3																	48624494		2202	4300	6502	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3187C>G	3.37:g.48624494G>C	ENSP00000332371:p.Gln1063Glu		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q1063E	ENST00000328333.8	37	c.3187	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	5.937	0.356968	0.11239	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.76316	-1.01;-1.01	5.91	3.91	0.45181	von Willebrand factor, type A (1);	0.624529	0.13152	N	0.409781	T	0.64638	0.2616	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.54309	-0.8313	10	0.35671	T	0.21	.	14.8075	0.69968	0.0:0.0:0.7269:0.2731	.	1063	Q02388	CO7A1_HUMAN	E	1063	ENSP00000332371:Q1063E;ENSP00000412569:Q1063E	ENSP00000332371:Q1063E	Q	-	1	0	COL7A1	48599498	0.045000	0.20229	0.560000	0.28344	0.489000	0.33432	1.300000	0.33436	1.470000	0.48102	0.655000	0.94253	CAA	COL7A1	-	pfscan_VWF_A		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48624494	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.030	C	C	48624494	G	C	48624494	3	2	160	1	0	0	0	0	1	0	0	0	3709	1299	45	1	6027	1	COL7A1	3	48624494	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	396249	48624494	149397936	437	28710										
C3orf71	646450	genome.wustl.edu	37	chr3	48955903	48955903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggctctggggccaccctgcGaccgcctcggggtgtaggca	16	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48955903G>C	ENST00000408959.2	-	1	915	c.680C>G	c.(679-681)tCg>tGg	p.S227W	ARIH2_ENST00000356401.4_5'Flank|ARIH2_ENST00000449376.1_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	227						integral component of membrane (GO:0016021)											GCCACCCTGCGACCGCCTCGG	0.632																																																	0													50	53	52					3																	48955903		1568	3582	5150	SO:0001583	missense	646450			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.680C>G	3.37:g.48955903G>C	ENSP00000386193:p.Ser227Trp			Missense_Mutation	SNP	NULL	p.S227W	ENST00000408959.2	37	c.680	CCDS43088.1	3	.	.	.	.	.	.	.	.	.	.	G	6.762	0.509515	0.12883	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.61	-1.63	0.08345	.	.	.	.	.	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.63283	0.913	T	0.12889	-1.0530	8	0.87932	D	0	.	2.6585	0.05019	0.4378:0.0:0.3457:0.2165	.	227	Q8N7S6	CC071_HUMAN	W	227	.	ENSP00000386193:S227W	S	-	2	0	C3orf71	48930907	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.103000	0.15292	-0.424000	0.07382	-0.258000	0.10820	TCG	ARIH2OS	-	NULL		0.632	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2OS	HGNC	protein_coding	OTTHUMT00000345247.1	G	NM_001123040		48955903	-1	no_errors	ENST00000408959	ensembl	human	known	70_37	missense	SNP	0.000	C	C	48955903	G	C	48955903	3	2	160	1	0	0	0	0	1	0	0	0	2248	1059	37	1	196	1	C3orf71	3	48955903	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	331409	48955903	149066527	438	28711										
C3orf71	646450	genome.wustl.edu	37	chr3	48956234	48956234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacccgagcgaccgtgggtcGaccccgatccggaagtgacg	15	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:48956234G>C	ENST00000408959.2	-	1	584	c.349C>G	c.(349-351)Cga>Gga	p.R117G	ARIH2_ENST00000356401.4_5'Flank|ARIH2_ENST00000449376.1_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	117						integral component of membrane (GO:0016021)											ACCGTGGGTCGACCCCGATCC	0.672																																																	0													10	13	12					3																	48956234		1532	3500	5032	SO:0001583	missense	646450			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.349C>G	3.37:g.48956234G>C	ENSP00000386193:p.Arg117Gly			Missense_Mutation	SNP	NULL	p.R117G	ENST00000408959.2	37	c.349	CCDS43088.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645086	0.29246	.	.	ENSG00000221883	ENST00000408959	.	.	.	3.7	2.83	0.33086	.	.	.	.	.	T	0.35537	0.0935	N	0.08118	0	0.21697	N	0.999585	D	0.89917	1.0	D	0.77557	0.99	T	0.11131	-1.0600	8	0.87932	D	0	.	7.246	0.26121	0.1189:0.0:0.8811:0.0	.	117	Q8N7S6	CC071_HUMAN	G	117	.	ENSP00000386193:R117G	R	-	1	2	C3orf71	48931238	0.769000	0.28531	0.674000	0.29902	0.313000	0.28021	0.631000	0.24568	1.153000	0.42468	0.655000	0.94253	CGA	ARIH2OS	-	NULL		0.672	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2OS	HGNC	protein_coding	OTTHUMT00000345247.1	G	NM_001123040		48956234	-1	no_errors	ENST00000408959	ensembl	human	known	70_37	missense	SNP	0.778	C	C	48956234	G	C	48956234	3	2	160	1	0	0	0	0	1	0	0	0	2248	1066	37	1	527	1	C3orf71	3	48956234	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	331	48956234	149066196	439	28712										
CCDC36	339834	genome.wustl.edu	37	chr3	49293632	49293632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagttttagttgctcagcaGagtcaggaattccagcagct	11	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49293632G>T	ENST00000438782.1	+	8	938	c.702G>T	c.(700-702)caG>caT	p.Q234H	CCDC36_ENST00000452691.2_Missense_Mutation_p.Q234H|CCDC36_ENST00000296449.5_Missense_Mutation_p.Q234H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	234										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTGCTCAGCAGAGTCAGGAAT	0.493																																																	0													105	106	105					3																	49293632		2203	4300	6503	SO:0001583	missense	339834			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.702G>T	3.37:g.49293632G>T	ENSP00000391788:p.Gln234His		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	NULL	p.Q234H	ENST00000438782.1	37	c.702	CCDS33755.2	3	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071284	0.55646	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.16597	2.33;2.33;2.33	5.31	5.31	0.75309	.	0.136446	0.35708	N	0.003040	T	0.30634	0.0771	L	0.32530	0.975	0.33257	D	0.559225	D	0.89917	1.0	D	0.74023	0.982	T	0.26395	-1.0104	10	0.87932	D	0	-5.9523	14.3602	0.66766	0.0:0.0:1.0:0.0	.	234	Q8IYA8	CCD36_HUMAN	H	234;234;234;214	ENSP00000296449:Q234H;ENSP00000391788:Q234H;ENSP00000407837:Q234H	ENSP00000296449:Q234H	Q	+	3	2	CCDC36	49268636	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	2.269000	0.43346	2.779000	0.95612	0.591000	0.81541	CAG	CCDC36	-	NULL		0.493	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1	G	NM_178173		49293632	1	no_errors	ENST00000296449	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49293632	G	T	49293632	3	4	160	1	0	0	0	0	1	0	0	0	2813	933	33	3	728	3	CCDC36	3	49293632	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	337398	49293632	148728798	440	28713										
BSN	8927	genome.wustl.edu	37	chr3	49700629	49700629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctgggtcgccatgaggccCggccccactctcagcccagc	11	19	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49700629C>A	ENST00000296452.4	+	7	11152	c.11038C>A	c.(11038-11040)Cgg>Agg	p.R3680R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3680					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGGCCCGGCCCCACTC	0.667																																																	0													54	56	55					3																	49700629		2202	4300	6502	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11038C>A	3.37:g.49700629C>A			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3680	ENST00000296452.4	37	c.11038	CCDS2800.1	3																																																																																			BSN	-	NULL		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49700629	1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49700629	C	A	49700629	2	1	160	1	0	0	0	0	0	0	0	1	1533	643	23	2		2	BSN	3	49700629	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	406997	49700629	148321801	441	28714										
MST1	63891	genome.wustl.edu	37	chr3	49724227	49724228	+	5'Flank	INS	-	-	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttgtcgtccagaccttggtINScgaggaacctgggggcggta							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49724227_49724228insC	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Frame_Shift_Ins_p.D246fs|MST1_ENST00000494828.2_5'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_3'UTR|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Frame_Shift_Ins_p.D171fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CAGACCTTGGTCGAGGAACCTG	0.619																																																	0																																										SO:0001631	upstream_gene_variant	4485			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724228_49724228dupC	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Ins	INS	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D246fs	ENST00000327697.6	37	c.737_736	CCDS33758.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.619	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	-	NM_022064		49724228	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	C	C	49724228	-	C	49724227	6	5	160	0	1	1	1	0	0	0	0	0	9913	1667	58	0		0	MST1	3	49724227	5'Flank	INS	-	TCGA-JW-A5VL-01A-11D-A28B-09	23598	49724227	148298203	442	28715										
AMIGO3	29925	genome.wustl.edu	37	chr3	49756377	49756377	+	3'UTR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcagaccgtgcaggtggtcGaaggagaacgaggcgagttc	16	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:49756377G>C	ENST00000480687.1	-	0	4007				AMIGO3_ENST00000535833.1_Missense_Mutation_p.F174L|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.F174L|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGTGGTCGAAGGAGAACG	0.637											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	68	73					3																	49756377		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2808C>G	3.37:g.49756377G>C		964	A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F174L	ENST00000480687.1	37	c.522	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222099	0.58560	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.02103	4.45;4.45	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.11756	0.17	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.62220	-0.6900	10	0.09338	T	0.73	-32.9735	9.3209	0.37964	0.1659:0.0:0.8341:0.0	.	174	Q86WK7	AMGO3_HUMAN	L	174	ENSP00000323096:F174L;ENSP00000439268:F174L	ENSP00000323096:F174L	F	-	3	2	AMIGO3	49731381	0.998000	0.40836	0.967000	0.41034	0.875000	0.50365	2.526000	0.45607	1.247000	0.43917	0.561000	0.74099	TTC	AMIGO3	-	smart_Leu-rich_rpt_typical-subtyp		0.637	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	G	NM_013334		49756377	-1	no_errors	ENST00000320431	ensembl	human	known	70_37	missense	SNP	0.988	C	C	49756377	G	C	49756377	1	2	160	0	1	0	0	0	0	0	0	0	577	1049	37	1		1	AMIGO3	3	49756377	3'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32150	49756377	148266053	443	28716										
RBM6	10180	genome.wustl.edu	37	chr3	50005788	50005788	+	Silent	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaacattctggtatgaatgtGaacaggagagaagaatccac							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:50005788G>A	ENST00000266022.4	+	3	1189	c.930G>A	c.(928-930)gtG>gtA	p.V310V	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Silent_p.V178V	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	310					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTATGAATGTGAACAGGAGAG	0.408																																																	0													69	66	67					3																	50005788		2203	4300	6503	SO:0001819	synonymous_variant	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.930G>A	3.37:g.50005788G>A			O60549|O75524|Q86SS3	Silent	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.V310	ENST00000266022.4	37	c.930	CCDS2809.1	3																																																																																			RBM6	-	NULL		0.408	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50005788	1	no_errors	ENST00000266022	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50005788	G	A	50005788	2	1	160	1	0	0	0	0	0	0	0	1	13174	1277	45	1		1	RBM6	3	50005788	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	249411	50005788	148016642	444	28717	180	2								
RBM6	10180	genome.wustl.edu	37	chr3	50005798	50005798	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtatgaatgtgaacaggagaGaagaatccacacatgaccat							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:50005798G>A	ENST00000266022.4	+	3	1199	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.E182K	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	314					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAACAGGAGAGAAGAATCCAC	0.418																																																	0													71	67	69					3																	50005798		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.940G>A	3.37:g.50005798G>A	ENSP00000266022:p.Glu314Lys		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.E314K	ENST00000266022.4	37	c.940	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876778	0.72180	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.36157	1.27;1.3	6.04	6.04	0.98038	.	0.368895	0.25909	N	0.027505	T	0.39989	0.1099	L	0.27053	0.805	0.80722	D	1	D	0.58268	0.982	P	0.51266	0.664	T	0.02925	-1.1093	9	.	.	.	-21.3344	20.5792	0.99380	0.0:0.0:1.0:0.0	.	314	P78332	RBM6_HUMAN	K	314;182	ENSP00000266022:E314K;ENSP00000396466:E182K	.	E	+	1	0	RBM6	49980802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.664000	0.74437	2.873000	0.98535	0.561000	0.74099	GAA	RBM6	-	NULL		0.418	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50005798	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50005798	G	A	50005798	3	1	160	1	0	0	0	0	1	0	0	0	13174	943	33	1	946	1	RBM6	3	50005798	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10	50005798	148016632	445	28718	180	2								
CACNA2D2	9254	genome.wustl.edu	37	chr3	50412211	50412211	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgagattggcttggaggtaGaaggtgctgtagggtgggag	20	3	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:50412211G>A	ENST00000479441.1	-	22	1940	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	CACNA2D2_ENST00000266039.3_Silent_p.F647F|CACNA2D2_ENST00000395083.1_Silent_p.F647F|CACNA2D2_ENST00000435965.1_Silent_p.F647F|CACNA2D2_ENST00000424201.2_Silent_p.F647F|CACNA2D2_ENST00000360963.3_Silent_p.F578F|CACNA2D2_ENST00000423994.2_Silent_p.F647F|CACNA2D2_ENST00000429770.1_Silent_p.F647F			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	647					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTGGAGGTAGAAGGTGCTGT	0.692																																																	0													42	31	35					3																	50412211		2180	4290	6470	SO:0001819	synonymous_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1941C>T	3.37:g.50412211G>A			A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.F647	ENST00000479441.1	37	c.1941	CCDS54588.1	3																																																																																			CACNA2D2	-	pfam_VDCC_a2/dsu		0.692	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	G	NM_006030		50412211	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50412211	G	A	50412211	2	1	160	1	0	0	0	0	0	0	0	1	2554	933	33	1		1	CACNA2D2	3	50412211	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	406413	50412211	147610219	446	28719										
DOCK3	1795	genome.wustl.edu	37	chr3	51393850	51393850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctacagagcctgtggattGaacgtaccacactgaccctg	9	14	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51393850G>C	ENST00000266037.9	+	43	4452	c.4429G>C	c.(4429-4431)Gaa>Caa	p.E1477Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1477	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGTGGATTGAACGTACCAC	0.542																																																	0													130	125	127					3																	51393850		2066	4218	6284	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4429G>C	3.37:g.51393850G>C	ENSP00000266037:p.Glu1477Gln		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1477Q	ENST00000266037.9	37	c.4429	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.112415	0.94339	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18657	2.2	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.86953	2.85	0.80722	D	1	D	0.57571	0.98	P	0.62184	0.899	T	0.57860	-0.7738	10	0.62326	D	0.03	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1477	Q8IZD9	DOCK3_HUMAN	Q	1477;273	ENSP00000266037:E1477Q	ENSP00000266037:E1477Q	E	+	1	0	DOCK3	51368890	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	GAA	DOCK3	-	pfam_DOCK_C		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51393850	1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51393850	G	C	51393850	3	2	160	1	0	0	0	0	1	0	0	0	4698	1291	45	1	4599	1	DOCK3	3	51393850	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	981639	51393850	146628580	447	28720										
DOCK3	1795	genome.wustl.edu	37	chr3	51393915	51393915	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggtggtttgaagtggagagGagggaactggtgagacatgt	19	3	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51393915G>C	ENST00000266037.9	+	43	4517	c.4494G>C	c.(4492-4494)agG>agC	p.R1498S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1498	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGTGGAGAGGAGGGAACTGG	0.542																																																	0													115	111	113					3																	51393915		2023	4185	6208	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4494G>C	3.37:g.51393915G>C	ENSP00000266037:p.Arg1498Ser		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1498S	ENST00000266037.9	37	c.4494	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901249	0.17760	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.16324	2.35	5.49	2.63	0.31362	.	0.095239	0.64402	D	0.000001	T	0.06050	0.0157	N	0.03154	-0.405	0.40118	D	0.976564	P	0.41188	0.741	B	0.39935	0.314	T	0.30966	-0.9960	10	0.05959	T	0.93	.	9.1426	0.36912	0.4115:0.0:0.5885:0.0	.	1498	Q8IZD9	DOCK3_HUMAN	S	1498;294	ENSP00000266037:R1498S	ENSP00000266037:R1498S	R	+	3	2	DOCK3	51368955	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	1.721000	0.38032	0.365000	0.24400	-0.797000	0.03246	AGG	DOCK3	-	pfam_DOCK_C		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51393915	1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51393915	G	C	51393915	3	2	160	1	0	0	0	0	1	0	0	0	4698	1165	41	1	4664	1	DOCK3	3	51393915	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	65	51393915	146628515	448	28721										
DOCK3	1795	genome.wustl.edu	37	chr3	51418883	51418883	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggggtgctgctgcgtgaaGagactgagaggcctcgaggc	19	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51418883G>C	ENST00000266037.9	+	53	6009	c.5986G>C	c.(5986-5988)Gag>Cag	p.E1996Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1996					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTGCGTGAAGAGACTGAGAG	0.706																																																	0													14	17	16					3																	51418883		2060	4184	6244	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5986G>C	3.37:g.51418883G>C	ENSP00000266037:p.Glu1996Gln		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1996Q	ENST00000266037.9	37	c.5986	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712545	0.48517	.	.	ENSG00000088538	ENST00000266037	T	0.04654	3.58	6.17	6.17	0.99709	.	0.182364	0.40554	N	0.001074	T	0.04092	0.0114	N	0.14661	0.345	0.31169	N	0.703442	B	0.27498	0.18	B	0.21546	0.035	T	0.25984	-1.0116	10	0.35671	T	0.21	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	1996	Q8IZD9	DOCK3_HUMAN	Q	1996	ENSP00000266037:E1996Q	ENSP00000266037:E1996Q	E	+	1	0	DOCK3	51393923	1.000000	0.71417	0.889000	0.34880	0.913000	0.54294	5.984000	0.70548	2.941000	0.99782	0.655000	0.94253	GAG	DOCK3	-	NULL		0.706	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51418883	1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51418883	G	C	51418883	3	2	160	1	0	0	0	0	1	0	0	0	4698	943	33	1	6196	1	DOCK3	3	51418883	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	24968	51418883	146603547	449	28722										
DOCK3	1795	genome.wustl.edu	37	chr3	51418899	51418899	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaagagactgagaggcctcGaggcctgcaccgcaaggctc	14	12	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:51418899G>C	ENST00000266037.9	+	53	6025	c.6002G>C	c.(6001-6003)cGa>cCa	p.R2001P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	2001					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGAGGCCTCGAGGCCTGCAC	0.706																																																	0													11	14	13					3																	51418899		2048	4186	6234	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.6002G>C	3.37:g.51418899G>C	ENSP00000266037:p.Arg2001Pro		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R2001P	ENST00000266037.9	37	c.6002	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905375	0.52333	.	.	ENSG00000088538	ENST00000266037	T	0.10763	2.84	6.17	6.17	0.99709	.	0.133861	0.47455	D	0.000235	T	0.11153	0.0272	L	0.27053	0.805	0.47994	D	0.999567	P	0.42757	0.789	B	0.39503	0.301	T	0.08289	-1.0729	10	0.31617	T	0.26	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2001	Q8IZD9	DOCK3_HUMAN	P	2001	ENSP00000266037:R2001P	ENSP00000266037:R2001P	R	+	2	0	DOCK3	51393939	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	7.034000	0.76511	2.941000	0.99782	0.655000	0.94253	CGA	DOCK3	-	NULL		0.706	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	G	NM_004947		51418899	1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	0.994	C	C	51418899	G	C	51418899	3	2	160	1	0	0	0	0	1	0	0	0	4698	1058	37	1	6212	1	DOCK3	3	51418899	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	16	51418899	146603531	450	28723										
DUSP7	1849	genome.wustl.edu	37	chr3	52087974	52087974	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaatgaagctgatggcctCagggaagaactgggagaggt	15	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52087974C>G	ENST00000495880.1	-	2	1117	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	DUSP7_ENST00000296483.6_Missense_Mutation_p.E261Q			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	312	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGATGGCCTCAGGGAAGAAC	0.617																																																	0													117	118	117					3																	52087974		2203	4300	6503	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.934G>C	3.37:g.52087974C>G	ENSP00000417183:p.Glu312Gln		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E261Q	ENST00000495880.1	37	c.781	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928740	0.92389	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.85773	-2.03;-2.03;-2.03	5.54	5.54	0.83059	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	L	0.58925	1.835	0.80722	D	1	P;D	0.61080	0.923;0.989	P;P	0.60949	0.567;0.881	D	0.88296	0.2946	10	0.37606	T	0.19	.	19.4497	0.94862	0.0:1.0:0.0:0.0	.	261;312	Q16829-2;Q16829	.;DUS7_HUMAN	Q	312;261;245	ENSP00000417183:E312Q;ENSP00000296483:E261Q;ENSP00000418566:E245Q	ENSP00000296483:E261Q	E	-	1	0	DUSP7	52063014	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.753000	0.85153	2.757000	0.94681	0.643000	0.83706	GAG	DUSP7	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP		0.617	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	C	NM_001947		52087974	-1	no_errors	ENST00000296483	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52087974	C	G	52087974	3	3	160	1	0	0	0	0	1	0	0	0	4840	835	29	1	333	1	DUSP7	3	52087974	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	669075	52087974	145934456	451	28724										
DNAH1	25981	genome.wustl.edu	37	chr3	52387228	52387228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggatgaatgaccccctctCtgccatcgatgctgagcagc	10	14	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52387228C>G	ENST00000420323.2	+	19	3398	c.3137C>G	c.(3136-3138)tCt>tGt	p.S1046C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1046	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCCCCTCTCTGCCATCGAT	0.562																																																	0													49	54	52					3																	52387228		2132	4246	6378	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3137C>G	3.37:g.52387228C>G	ENSP00000401514:p.Ser1046Cys		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.S1046C	ENST00000420323.2	37	c.3137	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860486	0.51482	.	.	ENSG00000114841	ENST00000420323	T	0.62364	0.03	5.78	5.78	0.91487	.	0.507330	0.16640	N	0.205683	T	0.78181	0.4243	M	0.84219	2.685	0.36198	D	0.850516	D;D	0.63880	0.973;0.993	P;P	0.61328	0.886;0.887	T	0.82159	-0.0595	10	0.46703	T	0.11	.	13.6662	0.62396	0.0:0.9204:0.0:0.0796	.	1046;1046	C9JXH6;Q9P2D7-3	.;.	C	1046	ENSP00000401514:S1046C	ENSP00000401514:S1046C	S	+	2	0	DNAH1	52362268	0.230000	0.23740	0.971000	0.41717	0.161000	0.22273	2.806000	0.47947	2.742000	0.94016	0.650000	0.86243	TCT	DNAH1	-	pfam_Dynein_heavy_dom-2		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52387228	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.911	G	G	52387228	C	G	52387228	3	3	160	1	0	0	0	0	1	0	0	0	4607	913	32	1	3207	1	DNAH1	3	52387228	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	299254	52387228	145635202	452	28725										
DNAH1	25981	genome.wustl.edu	37	chr3	52396472	52396472	+	Missense_Mutation	SNP	G	G	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcgcagtgtttatcaccatGaacccgggctacgctggccg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52396472G>C	ENST00000420323.2	+	31	5310	c.5049G>C	c.(5047-5049)atG>atC	p.M1683I	DNAH1_ENST00000466628.1_3'UTR	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1683	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTATCACCATGAACCCGGGCT	0.602																																																	0													55	62	59					3																	52396472		2163	4282	6445	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5049G>C	3.37:g.52396472G>C	ENSP00000401514:p.Met1683Ile		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.M1683I	ENST00000420323.2	37	c.5049	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.501831	0.96371	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.73257	0.3564	M	0.93939	3.475	0.80722	D	1	D	0.52996	0.957	P	0.61658	0.892	T	0.80178	-0.1490	10	0.87932	D	0	.	19.8554	0.96756	0.0:0.0:1.0:0.0	.	1683	C9JXH6	.	I	1683	ENSP00000401514:M1683I	ENSP00000401514:M1683I	M	+	3	0	DNAH1	52371512	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	ATG	DNAH1	-	NULL		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52396472	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52396472	G	C	52396472	3	2	160	1	0	0	0	0	1	0	0	0	4607	1290	45	1	5167	1	DNAH1	3	52396472	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9244	52396472	145625958	453	28726	181	2								
DNAH1	25981	genome.wustl.edu	37	chr3	52396480	52396480	+	Missense_Mutation	SNP	G	G	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtttatcaccatgaacccggGctacgctggccgcacggagc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52396480G>C	ENST00000420323.2	+	31	5318	c.5057G>C	c.(5056-5058)gGc>gCc	p.G1686A	DNAH1_ENST00000466628.1_3'UTR	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1686	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGAACCCGGGCTACGCTGGC	0.587																																																	0													48	54	52					3																	52396480		2154	4284	6438	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5057G>C	3.37:g.52396480G>C	ENSP00000401514:p.Gly1686Ala		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.G1686A	ENST00000420323.2	37	c.5057	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755319	0.89843	.	.	ENSG00000114841	ENST00000420323	T	0.16457	2.34	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000100	T	0.61689	0.2367	H	0.98178	4.165	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.76892	-0.2791	10	0.87932	D	0	.	19.8554	0.96756	0.0:0.0:1.0:0.0	.	1686	C9JXH6	.	A	1686	ENSP00000401514:G1686A	ENSP00000401514:G1686A	G	+	2	0	DNAH1	52371520	1.000000	0.71417	0.174000	0.22961	0.570000	0.35934	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GGC	DNAH1	-	NULL		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52396480	1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52396480	G	C	52396480	3	2	160	1	0	0	0	0	1	0	0	0	4607	1203	42	4	5175	4	DNAH1	3	52396480	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8	52396480	145625950	454	28727	181	2								
DNAH1	25981	genome.wustl.edu	37	chr3	52398683	52398683	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacttcgggatgagagccgtGaaaactgtgatctcggctgc	14	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52398683G>A	ENST00000420323.2	+	33	5535	c.5274G>A	c.(5272-5274)gtG>gtA	p.V1758V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1758	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGAGCCGTGAAAACTGTGA	0.572																																																	0													91	93	93					3																	52398683		2051	4199	6250	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5274G>A	3.37:g.52398683G>A			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.V1758	ENST00000420323.2	37	c.5274	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52398683	1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52398683	G	A	52398683	2	1	160	1	0	0	0	0	0	0	0	1	4607	1277	45	1		1	DNAH1	3	52398683	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2203	52398683	145623747	455	28728										
NISCH	11188	genome.wustl.edu	37	chr3	52522532	52522532	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggcctcgctgcaggacctGaagactgtggtcatcgccaa	13	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52522532G>A	ENST00000479054.1	+	17	3096	c.3024G>A	c.(3022-3024)ctG>ctA	p.L1008L	NISCH_ENST00000345716.4_Silent_p.L1008L			Q9Y2I1	NISCH_HUMAN	nischarin	1008					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGCAGGACCTGAAGACTGTGG	0.652																																																	0													46	46	46					3																	52522532		2202	4300	6502	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3024G>A	3.37:g.52522532G>A			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.L1008	ENST00000479054.1	37	c.3024	CCDS33767.1	3																																																																																			NISCH	-	NULL		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52522532	1	no_errors	ENST00000345716	ensembl	human	known	70_37	silent	SNP	0.984	A	A	52522532	G	A	52522532	2	1	160	1	0	0	0	0	0	0	0	1	10456	1277	45	1		1	NISCH	3	52522532	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	123849	52522532	145499898	456	28729										
NISCH	11188	genome.wustl.edu	37	chr3	52524734	52524734	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacacagatttctggcatcaGaaaaacaccgactacaacaa	5	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52524734G>A	ENST00000479054.1	+	20	3699	c.3627G>A	c.(3625-3627)caG>caA	p.Q1209Q	NISCH_ENST00000345716.4_Silent_p.Q1209Q			Q9Y2I1	NISCH_HUMAN	nischarin	1209					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCTGGCATCAGAAAAACACCG	0.532																																																	0													146	146	146					3																	52524734		2203	4300	6503	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3627G>A	3.37:g.52524734G>A			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.Q1209	ENST00000479054.1	37	c.3627	CCDS33767.1	3																																																																																			NISCH	-	NULL		0.532	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52524734	1	no_errors	ENST00000345716	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52524734	G	A	52524734	2	1	160	1	0	0	0	0	0	0	0	1	10456	933	33	1		1	NISCH	3	52524734	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2202	52524734	145497696	457	28730										
STAB1	23166	genome.wustl.edu	37	chr3	52549439	52549439	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcctgtccccgtttccagGacacacccaggaagagctgt	10	15	0	1	rs145751447		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52549439G>C	ENST00000321725.6	+	37	3941	c.3865G>C	c.(3865-3867)Gac>Cac	p.D1289H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1289					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGTTTCCAGGACACACCCAG	0.602																																																	0													66	62	64					3																	52549439		2202	4300	6502	SO:0001630	splice_region_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3865-1G>C	3.37:g.52549439G>C			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D1289H	ENST00000321725.6	37	c.3865	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441590	0.25900	.	.	ENSG00000010327	ENST00000321725	T	0.03065	4.06	4.71	-0.447	0.12234	.	0.726345	0.13718	N	0.367605	T	0.02418	0.0074	N	0.24115	0.695	0.24927	N	0.991944	P	0.34780	0.468	B	0.32393	0.145	T	0.48293	-0.9048	9	.	.	.	.	7.6198	0.28179	0.5083:0.0:0.4917:0.0	.	1289	Q9NY15	STAB1_HUMAN	H	1289	ENSP00000312946:D1289H	.	D	+	1	0	STAB1	52524479	0.414000	0.25408	0.198000	0.23420	0.573000	0.36030	-0.019000	0.12546	0.002000	0.14630	0.563000	0.77884	GAC	STAB1	-	NULL		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136	Missense_Mutation	52549439	1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.535	C	C	52549439	G	C	52549439	5	2	160	1	0	0	0	0	0	0	1	0	15267	1188	41	1	4011	1	STAB1	3	52549439	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	24705	52549439	145472991	458	28731										
NT5DC2	64943	genome.wustl.edu	37	chr3	52558597	52558597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgtacggcgtgggtagaaGgtgaagtccacgcggtagtt	18	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52558597G>A	ENST00000307076.4	-	14	1852	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	NT5DC2_ENST00000459839.1_Silent_p.T496T|NT5DC2_ENST00000422318.2_Silent_p.T521T|NT5DC2_ENST00000307092.4_Silent_p.T425T	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	484							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GTGGGTAGAAGGTGAAGTCCA	0.627																																																	0													84	76	78					3																	52558597		2203	4300	6503	SO:0001819	synonymous_variant	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1452C>T	3.37:g.52558597G>A			C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.T521	ENST00000307076.4	37	c.1563	CCDS2858.1	3																																																																																			NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase		0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	G	NM_022908		52558597	-1	no_errors	ENST00000422318	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52558597	G	A	52558597	2	1	160	1	0	0	0	0	0	0	0	1	10715	987	35	4		4	NT5DC2	3	52558597	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9158	52558597	145463833	459	28732										
NT5DC2	64943	genome.wustl.edu	37	chr3	52562533	52562533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atacagctcaatcacctcctCgtctggcacaggctggaggc	10	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52562533C>T	ENST00000307076.4	-	5	860	c.460G>A	c.(460-462)Gag>Aag	p.E154K	NT5DC2_ENST00000459839.1_Missense_Mutation_p.E166K|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E191K|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E95K	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	154							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATCACCTCCTCGTCTGGCACA	0.602																																																	0													85	78	80					3																	52562533		2203	4300	6503	SO:0001583	missense	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.460G>A	3.37:g.52562533C>T	ENSP00000302468:p.Glu154Lys		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E191K	ENST00000307076.4	37	c.571	CCDS2858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.56|14.56	2.573170|2.573170	0.45902|0.45902	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839;ENST00000471522|ENST00000489316	T;T;T;T;T|.	0.27402|.	1.67;1.67;1.67;1.67;1.67|.	4.8|4.8	4.8|4.8	0.61643|0.61643	HAD-like domain (1);|.	0.103999|.	0.64402|.	D|.	0.000005|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.48260|0.48260	1.515|1.515	0.52501|0.52501	D|D	0.999959|0.999959	P;P;P|.	0.44946|.	0.846;0.53;0.53|.	B;B;B|.	0.40375|.	0.327;0.086;0.124|.	T|T	0.56595|0.56595	-0.7953|-0.7953	10|5	0.56958|.	D|.	0.05|.	-19.1494|-19.1494	11.3901|11.3901	0.49809|0.49809	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	166;154;191|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	K|Q	95;154;191;166;24|97	ENSP00000306017:E95K;ENSP00000302468:E154K;ENSP00000406933:E191K;ENSP00000419547:E166K;ENSP00000418583:E24K|.	ENSP00000302468:E154K|.	E|R	-|-	1|2	0|0	NT5DC2|NT5DC2	52537573|52537573	1.000000|1.000000	0.71417|0.71417	0.772000|0.772000	0.31596|0.31596	0.241000|0.241000	0.25554|0.25554	5.782000|5.782000	0.68973|0.68973	2.237000|2.237000	0.73441|0.73441	0.313000|0.313000	0.20887|0.20887	GAG|CGA	NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.602	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	C	NM_022908		52562533	-1	no_errors	ENST00000422318	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52562533	C	T	52562533	3	4	160	1	0	0	0	0	1	0	0	0	10715	893	31	1	1142	1	NT5DC2	3	52562533	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3936	52562533	145459897	460	28733										
NEK4	6787	genome.wustl.edu	37	chr3	52799951	52799951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaattcatatcttttgcattGaaagcatgcttcaaggtggc	9	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:52799951G>C	ENST00000233027.5	-	4	820	c.618C>G	c.(616-618)ttC>ttG	p.F206L	NEK4_ENST00000383721.4_Missense_Mutation_p.F206L|NEK4_ENST00000535191.1_Missense_Mutation_p.F117L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTTTTGCATTGAAAGCATGCT	0.338																																																	0													89	90	89					3																	52799951		2203	4299	6502	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.618C>G	3.37:g.52799951G>C	ENSP00000233027:p.Phe206Leu		A5YM70|B2R633|B7Z200|Q6P576	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F206L	ENST00000233027.5	37	c.618	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183571	0.78677	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.32988	1.43;1.46;1.43;1.46	5.87	3.12	0.35913	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.87827	2.91	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.60291	-0.7292	10	0.87932	D	0	.	10.4072	0.44272	0.272:0.0:0.728:0.0	.	117;206;206	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	L	206;117;206;117	ENSP00000233027:F206L;ENSP00000437703:F117L;ENSP00000373227:F206L;ENSP00000419666:F117L	ENSP00000233027:F206L	F	-	3	2	NEK4	52774991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.226000	0.42963	0.392000	0.25172	-0.140000	0.14226	TTC	NEK4	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.338	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	G	NM_003157		52799951	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52799951	G	C	52799951	3	2	160	1	0	0	0	0	1	0	0	0	10350	1281	45	1	1959	1	NEK4	3	52799951	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	237418	52799951	145222479	461	28734										
ERC2	26059	genome.wustl.edu	37	chr3	56173671	56173671	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaggcaagaagttccgactCtttctttgaaagttcctgct	8	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:56173671C>G	ENST00000288221.6	-	6	1594	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	447						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGTTCCGACTCTTTCTTTGAA	0.388																																																	0													129	108	114					3																	56173671		1851	4102	5953	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1339G>C	3.37:g.56173671C>G	ENSP00000288221:p.Glu447Gln		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.E447Q	ENST00000288221.6	37	c.1339	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.279379|5.279379	0.95489|0.95489	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	D|T	0.83250|0.51574	-1.7|0.7	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.048070|.	0.85682|.	D|.	0.000000|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.46064|.	0.872|.	B|.	0.42827|.	0.399|.	T|T	0.62803|0.62803	-0.6777|-0.6777	10|7	0.66056|0.87932	D|D	0.02|0	-20.9728|-20.9728	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	447|.	O15083|.	ERC2_HUMAN|.	Q|N	447|85	ENSP00000288221:E447Q|ENSP00000417280:K85N	ENSP00000288221:E447Q|ENSP00000417280:K85N	E|K	-|-	1|3	0|2	ERC2|ERC2	56148711|56148711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|AAG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin		0.388	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	C	NM_015576		56173671	-1	no_errors	ENST00000288221	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56173671	C	G	56173671	3	3	160	1	0	0	0	0	1	0	0	0	5223	922	32	1	1572	1	ERC2	3	56173671	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3373720	56173671	141848759	462	28735										
C3orf63	23272	genome.wustl.edu	37	chr3	56659007	56659007	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgatagacattcagaagcgtCaacagacttagagctttagc	9	8	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:56659007C>A	ENST00000493960.2	-	22	4177	c.4167G>T	c.(4165-4167)ttG>ttT	p.L1389F	FAM208A_ENST00000355628.5_Missense_Mutation_p.L1328F|FAM208A_ENST00000431842.2_Missense_Mutation_p.L952F|FAM208A_ENST00000485156.1_Intron	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1389							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCAGAAGCGTCAACAGACTTA	0.343																																																	0													76	78	77					3																	56659007		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4167G>T	3.37:g.56659007C>A	ENSP00000417509:p.Leu1389Phe		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.L1328F	ENST00000493960.2	37	c.3984	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260065	0.59321	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.62941	-0.01;-0.01;-0.01	5.55	4.68	0.58851	.	0.000000	0.51477	D	0.000098	T	0.71879	0.3392	L	0.56769	1.78	0.46981	D	0.999278	D;P;D;D	0.63880	0.993;0.811;0.993;0.986	P;P;D;P	0.65140	0.869;0.66;0.932;0.741	T	0.73987	-0.3809	10	0.87932	D	0	-0.6869	9.8342	0.40960	0.0:0.6728:0.2557:0.0715	.	1389;1328;952;1389	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	F	952;1389;1328	ENSP00000399410:L952F;ENSP00000417509:L1389F;ENSP00000347845:L1328F	ENSP00000347845:L1328F	L	-	3	2	C3orf63	56634047	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	1.382000	0.34374	1.340000	0.45581	0.655000	0.94253	TTG	FAM208A	-	NULL		0.343	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	C	NM_015224		56659007	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56659007	C	A	56659007	3	1	160	1	0	0	0	0	1	0	0	0	2244	825	29	3	917	3	C3orf63	3	56659007	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	485336	56659007	141363423	463	28736										
SLMAP	7871	genome.wustl.edu	37	chr3	57847784	57847784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatataatggagcagttaatGagattaaagatttatctgat	8	2	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:57847784G>C	ENST00000428312.1	+	9	1031	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	SLMAP_ENST00000383718.3_Missense_Mutation_p.E313Q|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.E313Q|SLMAP_ENST00000449503.2_Missense_Mutation_p.E313Q|SLMAP_ENST00000295951.3_Missense_Mutation_p.E313Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	313					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCAGTTAATGAGATTAAAGA	0.303																																																	0													88	101	97					3																	57847784		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.937G>C	3.37:g.57847784G>C	ENSP00000398661:p.Glu313Gln		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.E313Q	ENST00000428312.1	37	c.937		3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623949	0.87460	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000465203	T;T;T;T;T	0.57595	1.44;1.44;0.39;1.41;1.46	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.68952	2.095	0.80722	D	1	B;D;P;P	0.53462	0.215;0.96;0.817;0.923	B;P;P;P	0.55667	0.151;0.611;0.529;0.781	T	0.64041	-0.6500	10	0.36615	T	0.2	-1.9897	19.6899	0.95996	0.0:0.0:1.0:0.0	.	313;313;313;313	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	Q	313;313;313;313;313;20	ENSP00000295951:E313Q;ENSP00000295952:E313Q;ENSP00000373224:E313Q;ENSP00000398661:E313Q;ENSP00000412945:E313Q	ENSP00000295951:E313Q	E	+	1	0	SLMAP	57822824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.307000	0.78920	2.645000	0.89757	0.655000	0.94253	GAG	SLMAP	-	NULL		0.303	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	G	NM_007159		57847784	1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57847784	G	C	57847784	3	2	160	1	0	0	0	0	1	0	0	0	14779	1291	45	1	971	1	SLMAP	3	57847784	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1188777	57847784	140174646	464	28737										
ACOX2	8309	genome.wustl.edu	37	chr3	58510215	58510215	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaggaagtcggctgccctCtgggctggacacctggccag	15	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:58510215C>G	ENST00000302819.5	-	11	1755	c.1464G>C	c.(1462-1464)caG>caC	p.Q488H	ACOX2_ENST00000481527.1_5'Flank|ACOX2_ENST00000459701.2_Missense_Mutation_p.Q474H	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	488					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGGCTGCCCTCTGGGCTGGAC	0.612																																																	0													85	79	81					3																	58510215		2203	4300	6503	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1464G>C	3.37:g.58510215C>G	ENSP00000307697:p.Gln488His		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.Q488H	ENST00000302819.5	37	c.1464	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892696	0.33442	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.15017	2.46;2.46	4.99	3.16	0.36331	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.312296	0.27609	N	0.018612	T	0.08626	0.0214	N	0.08118	0	0.32574	N	0.529395	B	0.15473	0.013	B	0.13407	0.009	T	0.06463	-1.0825	10	0.54805	T	0.06	-39.9611	8.4787	0.33030	0.0:0.813:0.0:0.187	.	488	Q99424	ACOX2_HUMAN	H	474;488	ENSP00000418562:Q474H;ENSP00000307697:Q488H	ENSP00000307697:Q488H	Q	-	3	2	ACOX2	58485255	0.441000	0.25626	0.838000	0.33150	0.368000	0.29767	1.434000	0.34958	0.598000	0.29829	-0.203000	0.12734	CAG	ACOX2	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.612	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58510215	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	missense	SNP	0.928	G	G	58510215	C	G	58510215	3	3	160	1	0	0	0	0	1	0	0	0	159	912	32	1	601	1	ACOX2	3	58510215	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	662431	58510215	139512215	465	28738										
FAM3D	131177	genome.wustl.edu	37	chr3	58620041	58620041	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcatgcagccctccatctCcagcagctctggccatccct	9	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:58620041C>G	ENST00000358781.2	-	10	950	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	214					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCCTCCATCTCCAGCAGCTCT	0.537																																																	0													87	88	88					3																	58620041		2203	4300	6503	SO:0001583	missense	131177			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.640G>C	3.37:g.58620041C>G	ENSP00000351632:p.Glu214Gln		Q547G2	Missense_Mutation	SNP	NULL	p.E214Q	ENST00000358781.2	37	c.640	CCDS2893.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985259	0.74474	.	.	ENSG00000198643	ENST00000358781	T	0.23552	1.9	5.3	3.48	0.39840	.	0.143817	0.47093	D	0.000254	T	0.40886	0.1135	L	0.53561	1.675	0.44110	D	0.996883	D	0.71674	0.998	D	0.68192	0.956	T	0.14783	-1.0460	10	0.41790	T	0.15	-36.793	10.4282	0.44391	0.0:0.8292:0.0:0.1708	.	214	Q96BQ1	FAM3D_HUMAN	Q	214	ENSP00000351632:E214Q	ENSP00000351632:E214Q	E	-	1	0	FAM3D	58595081	1.000000	0.71417	0.961000	0.40146	0.877000	0.50540	3.275000	0.51639	1.384000	0.46424	0.655000	0.94253	GAG	FAM3D	-	NULL		0.537	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1	C	NM_138805		58620041	-1	no_errors	ENST00000358781	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58620041	C	G	58620041	3	3	160	1	0	0	0	0	1	0	0	0	5577	864	30	1	38	1	FAM3D	3	58620041	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	109826	58620041	139402389	466	28739										
FRMD4B	23150	genome.wustl.edu	37	chr3	69230376	69230376	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctcatatccatagtgggctGaggaccggtaggaagggttg	16	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:69230376G>A	ENST00000398540.3	-	21	2608	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L	FRMD4B_ENST00000478263.1_Missense_Mutation_p.S494L|FRMD4B_ENST00000542259.1_Missense_Mutation_p.S788L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	842					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATAGTGGGCTGAGGACCGGTA	0.507																																																	0													65	63	64					3																	69230376		1977	4157	6134	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2525C>T	3.37:g.69230376G>A	ENSP00000381549:p.Ser842Leu		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.S842L	ENST00000398540.3	37	c.2525	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659463	0.67586	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.86562	-2.14;-2.14	5.83	4.96	0.65561	.	0.364572	0.29002	N	0.013446	D	0.84415	0.5467	L	0.56769	1.78	0.09310	N	1	B;P	0.46064	0.02;0.872	B;B	0.38327	0.014;0.271	T	0.79172	-0.1913	10	0.72032	D	0.01	-1.1683	14.7912	0.69844	0.0691:0.0:0.9309:0.0	.	686;842	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	L	842;788;494	ENSP00000381549:S842L;ENSP00000437658:S788L	ENSP00000381549:S842L	S	-	2	0	FRMD4B	69313066	0.998000	0.40836	0.250000	0.24296	0.995000	0.86356	5.607000	0.67648	1.468000	0.48064	0.591000	0.81541	TCA	FRMD4B	-	NULL		0.507	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69230376	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	0.074	A	A	69230376	G	A	69230376	3	1	160	1	0	0	0	0	1	0	0	0	6070	1294	45	1	591	1	FRMD4B	3	69230376	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10610335	69230376	128792054	467	28740										
FRMD4B	23150	genome.wustl.edu	37	chr3	69230520	69230520	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acggtggctcctgactctttGagtaaacaccattcctcaaa	7	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:69230520G>C	ENST00000398540.3	-	21	2464	c.2381C>G	c.(2380-2382)tCa>tGa	p.S794*	FRMD4B_ENST00000478263.1_Nonsense_Mutation_p.S446*|FRMD4B_ENST00000542259.1_Nonsense_Mutation_p.S740*	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	794					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGACTCTTTGAGTAAACACC	0.443																																																	0													75	74	75					3																	69230520		1931	4130	6061	SO:0001587	stop_gained	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2381C>G	3.37:g.69230520G>C	ENSP00000381549:p.Ser794*		Q8TAI3	Nonsense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.S794*	ENST00000398540.3	37	c.2381	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.845183	0.97881	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	.	.	.	5.83	2.9	0.33743	.	1.135210	0.06359	N	0.711415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	0.0937	4.0975	0.09998	0.0805:0.1098:0.4969:0.3127	.	.	.	.	X	794;740;446	.	ENSP00000381549:S794X	S	-	2	0	FRMD4B	69313210	0.032000	0.19561	0.001000	0.08648	0.949000	0.60115	2.217000	0.42880	0.794000	0.33899	0.591000	0.81541	TCA	FRMD4B	-	NULL		0.443	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69230520	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	nonsense	SNP	0.009	C	C	69230520	G	C	69230520	4	2	160	1	0	0	0	0	0	1	0	0	6070	1294	45	1	735	1	FRMD4B	3	69230520	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	144	69230520	128791910	468	28741										
FRMD4B	23150	genome.wustl.edu	37	chr3	69360490	69360490	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agccactaggtccagcaactCtcttgctagaagtttgggct	10	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:69360490C>G	ENST00000398540.3	-	3	330	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	FRMD4B_ENST00000542259.1_Missense_Mutation_p.E29Q	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	83	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCCAGCAACTCTCTTGCTAGA	0.373																																																	0													60	58	59					3																	69360490		1831	4084	5915	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.247G>C	3.37:g.69360490C>G	ENSP00000381549:p.Glu83Gln		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E83Q	ENST00000398540.3	37	c.247	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684310	0.88639	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000473029;ENST00000460709;ENST00000459638;ENST00000497880	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.49	5.49	0.81192	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.200581	0.45361	D	0.000374	D	0.83289	0.5222	L	0.42581	1.335	0.54753	D	0.999984	D;P	0.89917	1.0;0.545	D;B	0.79108	0.992;0.435	T	0.77680	-0.2497	10	0.16420	T	0.52	-23.4965	18.5154	0.90934	0.0:1.0:0.0:0.0	.	188;83	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	Q	83;29;29;29;29;29	ENSP00000381549:E83Q;ENSP00000437658:E29Q;ENSP00000418373:E29Q;ENSP00000418023:E29Q;ENSP00000417550:E29Q;ENSP00000417765:E29Q	ENSP00000381549:E83Q	E	-	1	0	FRMD4B	69443180	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.069000	0.76755	2.736000	0.93811	0.655000	0.94253	GAG	FRMD4B	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.373	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	C			69360490	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69360490	C	G	69360490	3	3	160	1	0	0	0	0	1	0	0	0	6070	922	32	1	2941	1	FRMD4B	3	69360490	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	129970	69360490	128661940	469	28742										
ROBO1	6091	genome.wustl.edu	37	chr3	78680360	78680360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctattgctgtgtggaggagGatgtgctgggggaggaggaa	21	3	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:78680360G>C	ENST00000464233.1	-	25	3690	c.3577C>G	c.(3577-3579)Cct>Gct	p.P1193A	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1148A|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1093A|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1154A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTGGAGGAGGATGTGCTGGG	0.488																																																	0													194	191	192					3																	78680360		2090	4210	6300	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3577C>G	3.37:g.78680360G>C	ENSP00000420321:p.Pro1193Ala		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1193A	ENST00000464233.1	37	c.3577	CCDS54611.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.332283|3.332283	0.60853|0.60853	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.84070	.|-1.8;-1.8;-1.8;-1.8	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89801|0.89801	0.6820|0.6820	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;B;P;P;B	.|0.76494	.|0.999;0.009;0.877;0.495;0.016	.|D;B;B;B;B	.|0.83275	.|0.996;0.016;0.265;0.077;0.036	D|D	0.88507|0.88507	0.3086|0.3086	5|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1157;1193;1148;1093;1154	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	M|A	119|1154;1148;1193;1148;1093;1197	.|ENSP00000406043:P1154A;ENSP00000420321:P1193A;ENSP00000420637:P1148A;ENSP00000417992:P1093A	.|.	I|P	-|-	3|1	3|0	ROBO1|ROBO1	78763050|78763050	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.780000|0.780000	0.44128|0.44128	9.420000|9.420000	0.97426|0.97426	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	ATC|CCT	ROBO1	-	NULL		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78680360	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78680360	G	C	78680360	3	2	160	1	0	0	0	0	1	0	0	0	13543	1174	41	1	1406	1	ROBO1	3	78680360	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9319870	78680360	119342070	470	28743										
EPHA3	2042	genome.wustl.edu	37	chr3	89468357	89468357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttctgctttataacaggtGaatttggagaggtgtgcagt	13	4	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:89468357G>A	ENST00000336596.2	+	11	2116	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E631K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TATAACAGGTGAATTTGGAGA	0.343										TSP Lung(6;0.00050)																																							0													81	85	83					3																	89468357		2202	4295	6497	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1891G>A	3.37:g.89468357G>A	ENSP00000337451:p.Glu631Lys		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E631K	ENST00000336596.2	37	c.1891	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.441664	0.96187	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.61980	0.06;0.06	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	N	0.17764	0.52	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.65500	-0.6153	9	.	.	.	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	631	P29320	EPHA3_HUMAN	K	631	ENSP00000337451:E631K;ENSP00000419190:E631K	.	E	+	1	0	EPHA3	89551047	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.730000	0.93505	0.563000	0.77884	GAA	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,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,pfscan_Prot_kinase_cat_dom		0.343	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89468357	1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89468357	G	A	89468357	3	1	160	1	0	0	0	0	1	0	0	0	5180	1291	45	1	1959	1	EPHA3	3	89468357	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10787997	89468357	108554073	471	28744										
COL8A1	1295	genome.wustl.edu	37	chr3	99514522	99514522	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagatatggggctgggaattGatggcgtgaaacccccccat	13	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:99514522G>C	ENST00000261037.3	+	5	2157	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	COL8A1_ENST00000273342.4_Missense_Mutation_p.D593H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	593	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCTGGGAATTGATGGCGTGAA	0.607																																																	0													50	50	50					3																	99514522		2203	4300	6503	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1777G>C	3.37:g.99514522G>C	ENSP00000261037:p.Asp593His		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D593H	ENST00000261037.3	37	c.1777	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407663	0.25378	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.91351	-2.83;-2.83	5.58	5.58	0.84498	.	0.443981	0.25714	N	0.028785	D	0.83078	0.5176	N	0.08118	0	0.48185	D	0.999604	B;B	0.26258	0.145;0.145	B;B	0.28638	0.092;0.092	T	0.80897	-0.1177	10	0.59425	D	0.04	.	17.05	0.86516	0.0:0.0:1.0:0.0	.	594;593	E7EPK9;P27658	.;CO8A1_HUMAN	H	593	ENSP00000261037:D593H;ENSP00000273342:D593H	ENSP00000261037:D593H	D	+	1	0	COL8A1	100997212	1.000000	0.71417	0.918000	0.36340	0.974000	0.67602	9.518000	0.98022	2.630000	0.89119	0.563000	0.77884	GAT	COL8A1	-	NULL		0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99514522	1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	0.889	C	C	99514522	G	C	99514522	3	2	160	1	0	0	0	0	1	0	0	0	3710	1290	45	1	1783	1	COL8A1	3	99514522	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10046165	99514522	98507908	472	28745										
TFG	10342	genome.wustl.edu	37	chr3	100451391	100451391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaaaagtctgcttctgattCttctggaaaacagtctactc	7	9	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:100451391C>T	ENST00000240851.4	+	5	795	c.455C>T	c.(454-456)tCt>tTt	p.S152F	TFG_ENST00000418917.2_Missense_Mutation_p.S152F|TFG_ENST00000490574.1_Missense_Mutation_p.S152F|TFG_ENST00000476228.1_Missense_Mutation_p.S152F	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	152					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCTTCTGATTCTTCTGGAAAA	0.338			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	0													102	104	103					3																	100451391		2203	4300	6503	SO:0001583	missense	10342			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.455C>T	3.37:g.100451391C>T	ENSP00000240851:p.Ser152Phe		D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.S152F	ENST00000240851.4	37	c.455	CCDS2939.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617913	0.87359	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.74;0.57	5.94	5.94	0.96194	.	0.257582	0.46758	D	0.000266	T	0.57007	0.2024	L	0.47716	1.5	0.80722	D	1	P;B	0.40794	0.729;0.145	P;B	0.44518	0.452;0.1	T	0.57376	-0.7822	10	0.62326	D	0.03	-11.6409	20.3552	0.98837	0.0:1.0:0.0:0.0	.	152;152	G5E9V1;Q92734	.;TFG_HUMAN	F	152	ENSP00000397182:S152F;ENSP00000419960:S152F;ENSP00000240851:S152F;ENSP00000417952:S152F;ENSP00000419504:S152F;ENSP00000420797:S152F	ENSP00000240851:S152F	S	+	2	0	TFG	101934081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.479000	0.66813	2.812000	0.96745	0.557000	0.71058	TCT	TFG	-	NULL		0.338	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	C	NM_006070		100451391	1	no_errors	ENST00000240851	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100451391	C	T	100451391	3	4	160	1	0	0	0	0	1	0	0	0	15836	913	32	1	469	1	TFG	3	100451391	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	936869	100451391	97571039	473	28746										
NFKBIZ	64332	genome.wustl.edu	37	chr3	101572421	101572421	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggtgatcaaagggaatctGagaatattgctaatcccatg	10	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:101572421G>C	ENST00000326172.5	+	5	1166	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E251Q|NFKBIZ_ENST00000326151.5_Intron	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	351	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAGGGAATCTGAGAATATTGC	0.488																																																	0													121	126	124					3																	101572421		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1051G>C	3.37:g.101572421G>C	ENSP00000325663:p.Glu351Gln		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E351Q	ENST00000326172.5	37	c.1051	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829907	0.50845	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326172	T;T;T	0.56941	0.47;0.43;0.47	5.81	5.81	0.92471	.	0.395089	0.26620	N	0.023375	T	0.59851	0.2224	M	0.64997	1.995	0.42842	D	0.994053	D	0.53151	0.958	P	0.47827	0.558	T	0.60969	-0.7157	10	0.45353	T	0.12	-11.3835	18.2479	0.89993	0.0:0.0:1.0:0.0	.	351	Q9BYH8	IKBZ_HUMAN	Q	251;251;351	ENSP00000419800:E251Q;ENSP00000377618:E251Q;ENSP00000325663:E351Q	ENSP00000325663:E351Q	E	+	1	0	NFKBIZ	103055111	1.000000	0.71417	0.999000	0.59377	0.285000	0.27093	4.932000	0.63476	2.735000	0.93741	0.563000	0.77884	GAG	NFKBIZ	-	NULL		0.488	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1	G	NM_031419		101572421	1	no_errors	ENST00000326172	ensembl	human	known	70_37	missense	SNP	0.980	C	C	101572421	G	C	101572421	3	2	160	1	0	0	0	0	1	0	0	0	10407	1291	45	1	1069	1	NFKBIZ	3	101572421	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1121030	101572421	96450009	474	28747										
MYH15	22989	genome.wustl.edu	37	chr3	108107819	108107819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatggtttcctggagtacctGataggtcagctctttgatgc	11	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:108107819G>C	ENST00000273353.3	-	39	5649	c.5593C>G	c.(5593-5595)Cag>Gag	p.Q1865E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1865						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGAGTACCTGATAGGTCAGC	0.552																																																	0													100	105	103					3																	108107819		1997	4168	6165	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5593C>G	3.37:g.108107819G>C	ENSP00000273353:p.Gln1865Glu			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q1865E	ENST00000273353.3	37	c.5593	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.140827	0.97320	.	.	ENSG00000144821	ENST00000273353	T	0.80994	-1.44	5.98	5.98	0.97165	Myosin tail (1);	.	.	.	.	D	0.92675	0.7672	M	0.92367	3.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	D	0.93448	0.6799	9	0.87932	D	0	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	1865	Q9Y2K3	MYH15_HUMAN	E	1865	ENSP00000273353:Q1865E	ENSP00000273353:Q1865E	Q	-	1	0	MYH15	109590509	1.000000	0.71417	0.082000	0.20525	0.856000	0.48823	7.703000	0.84585	2.838000	0.97847	0.655000	0.94253	CAG	MYH15	-	pfam_Myosin_tail		0.552	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108107819	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108107819	G	C	108107819	3	2	160	1	0	0	0	0	1	0	0	0	10057	1299	45	1	263	1	MYH15	3	108107819	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6535398	108107819	89914611	475	28748										
DZIP3	9666	genome.wustl.edu	37	chr3	108392964	108392964	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtagggattttggtttgcttCatctagagcagactgaaaag	12	5	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:108392964C>A	ENST00000361582.3	+	24	2859	c.2629C>A	c.(2629-2631)Cat>Aat	p.H877N	DZIP3_ENST00000463306.1_Missense_Mutation_p.H877N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	877					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGGTTTGCTTCATCTAGAGCA	0.408																																																	0													171	168	169					3																	108392964		2203	4299	6502	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2629C>A	3.37:g.108392964C>A	ENSP00000355028:p.His877Asn		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H877N	ENST00000361582.3	37	c.2629	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304908	0.60305	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83992	-1.79;-1.79	4.56	4.56	0.56223	.	0.142946	0.32518	N	0.005985	T	0.75781	0.3896	L	0.47716	1.5	0.35000	D	0.755917	P;P	0.48230	0.779;0.907	B;B	0.37989	0.262;0.258	D	0.83865	0.0270	10	0.51188	T	0.08	-14.1509	12.692	0.56980	0.0:1.0:0.0:0.0	.	495;877	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	877	ENSP00000355028:H877N;ENSP00000419981:H877N	ENSP00000355028:H877N	H	+	1	0	DZIP3	109875654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.376000	0.81061	0.563000	0.77884	CAT	DZIP3	-	NULL		0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108392964	1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108392964	C	A	108392964	3	1	160	1	0	0	0	0	1	0	0	0	4875	826	29	3	2719	3	DZIP3	3	108392964	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	285145	108392964	89629466	476	28749										
DPPA4	55211	genome.wustl.edu	37	chr3	109056348	109056348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctccatacttgtagaagaaGcggagcctcgcaacatgctt	9	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:109056348G>C	ENST00000335658.6	-	1	71	c.17C>G	c.(16-18)gCt>gGt	p.A6G	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	6					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTAGAAGAAGCGGAGCCTCG	0.498																																																	0													144	117	127					3																	109056348		2203	4300	6503	SO:0001583	missense	55211			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.17C>G	3.37:g.109056348G>C	ENSP00000335306:p.Ala6Gly		A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	NULL	p.A6G	ENST00000335658.6	37	c.17	CCDS33814.1	3	.	.	.	.	.	.	.	.	.	.	G	6.080	0.383088	0.11524	.	.	ENSG00000121570	ENST00000335658	T	0.25912	1.77	3.21	-4.26	0.03755	.	4.743100	0.00447	N	0.000081	T	0.15609	0.0376	L	0.36672	1.1	0.09310	N	1	B;B	0.30326	0.187;0.276	B;B	0.24701	0.055;0.042	T	0.06058	-1.0848	9	.	.	.	8.5277	0.8159	0.01102	0.3241:0.3179:0.1977:0.1603	.	6;6	B7Z595;Q7L190	.;DPPA4_HUMAN	G	6	ENSP00000335306:A6G	.	A	-	2	0	DPPA4	110539038	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.004000	0.03678	-1.009000	0.03400	0.563000	0.77884	GCT	DPPA4	-	NULL		0.498	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	G	NM_018189		109056348	-1	no_errors	ENST00000335658	ensembl	human	known	70_37	missense	SNP	0.000	C	C	109056348	G	C	109056348	3	2	160	1	0	0	0	0	1	0	0	0	4746	971	34	4	925	4	DPPA4	3	109056348	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	663384	109056348	88966082	477	28750										
PVRL3	25945	genome.wustl.edu	37	chr3	110837554	110837554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agattctttaattgatggagGaaatgaaacagtagcagcca	10	5	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:110837554G>T	ENST00000485303.1	+	3	829	c.554G>T	c.(553-555)gGa>gTa	p.G185V	PVRL3_ENST00000319792.3_Missense_Mutation_p.G185V|PVRL3_ENST00000493615.1_Missense_Mutation_p.G162V	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	185	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ATTGATGGAGGAAATGAAACA	0.378																																																	0													40	37	38					3																	110837554		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.554G>T	3.37:g.110837554G>T	ENSP00000418070:p.Gly185Val		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.G185V	ENST00000485303.1	37	c.554	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224278	0.79576	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.75821	-0.97;-0.97;-0.97	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.163490	0.53938	D	0.000054	T	0.81479	0.4831	L	0.55213	1.73	0.80722	D	1	D;P	0.67145	0.996;0.938	D;P	0.65323	0.934;0.637	T	0.82398	-0.0477	10	0.66056	D	0.02	.	12.8035	0.57598	0.0:0.1643:0.8356:0.0	.	162;185	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	V	185;185;162	ENSP00000418070:G185V;ENSP00000321514:G185V;ENSP00000420579:G162V	ENSP00000321514:G185V	G	+	2	0	PVRL3	112320244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.797000	0.47877	2.648000	0.89879	0.650000	0.86243	GGA	PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like		0.378	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	G	NM_015480		110837554	1	no_errors	ENST00000485303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110837554	G	T	110837554	3	4	160	1	0	0	0	0	1	0	0	0	12871	1174	41	3	564	3	PVRL3	3	110837554	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1781206	110837554	87184876	478	28751										
CD96	10225	genome.wustl.edu	37	chr3	111264108	111264108	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtcacttgtgactttcacaGaaactcctgagaatgggtca	9	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:111264108G>T	ENST00000283285.5	+	2	408	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	CD96_ENST00000438817.2_Nonsense_Mutation_p.E93*|CD96_ENST00000352690.4_Nonsense_Mutation_p.E93*	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	93	Ig-like V-type 1.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GACTTTCACAGAAACTCCTGA	0.458									Opitz Trigonocephaly syndrome																																								0													113	98	103					3																	111264108		2203	4300	6503	SO:0001587	stop_gained	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.277G>T	3.37:g.111264108G>T	ENSP00000283285:p.Glu93*		Q5JPB3	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.E93*	ENST00000283285.5	37	c.277	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725617	0.68959	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	.	.	.	5.23	-3.58	0.04597	.	0.679802	0.14063	N	0.343944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.418	7.6387	0.28282	0.239:0.4363:0.3247:0.0	.	.	.	.	X	93	.	ENSP00000283285:E93X	E	+	1	0	CD96	112746798	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.048000	0.11944	-0.632000	0.05553	-1.028000	0.02416	GAA	CD96	-	smart_Ig_sub		0.458	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	G			111264108	1	no_errors	ENST00000283285	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	111264108	G	T	111264108	4	4	160	1	0	0	0	0	0	1	0	0	3053	943	33	3	283	3	CD96	3	111264108	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	426554	111264108	86758322	479	28752										
TMPRSS7	344805	genome.wustl.edu	37	chr3	111785331	111785331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgtgagaatggccgggatGagcaaaactgcactcaaagt	12	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:111785331G>A	ENST00000452346.2	+	13	1651	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.E424K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	550	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCCGGGATGAGCAAAACTG	0.507																																																	0													83	84	83					3																	111785331		1987	4181	6168	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1648G>A	3.37:g.111785331G>A	ENSP00000398236:p.Glu550Lys		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E424K	ENST00000452346.2	37	c.1270		3	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025427	0.93518	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.77620	-1.11;-1.11	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.89715	3.055	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91123	0.4931	10	0.59425	D	0.04	.	17.0562	0.86534	0.0:0.0:1.0:0.0	.	550;424	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	550;538;524;424	ENSP00000398236:E550K;ENSP00000411645:E424K	ENSP00000411645:E424K	E	+	1	0	TMPRSS7	113268021	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	8.166000	0.89665	2.836000	0.97738	0.655000	0.94253	GAG	TMPRSS7	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt		0.507	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	G	XM_293599		111785331	1	no_errors	ENST00000419127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111785331	G	A	111785331	3	1	160	1	0	0	0	0	1	0	0	0	16282	1291	45	1	1308	1	TMPRSS7	3	111785331	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	521223	111785331	86237099	480	28753										
TMPRSS7	344805	genome.wustl.edu	37	chr3	111795803	111795803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtttgtctccccggtgagaaGaattgtggtccacgagtact	12	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:111795803G>A	ENST00000452346.2	+	16	2039	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R553K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	679	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGGTGAGAAGAATTGTGGTC	0.463																																																	0													227	215	219					3																	111795803		1958	4162	6120	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2036G>A	3.37:g.111795803G>A	ENSP00000398236:p.Arg679Lys		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R553K	ENST00000452346.2	37	c.1658		3	.	.	.	.	.	.	.	.	.	.	G	35	5.419317	0.96092	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.87729	-2.29;-2.29	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	N	0.20304	0.555	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.936	D	0.86319	0.1691	10	0.27785	T	0.31	.	17.651	0.88164	0.0:0.0:1.0:0.0	.	679;553	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	679;667;653;553	ENSP00000398236:R679K;ENSP00000411645:R553K	ENSP00000411645:R553K	R	+	2	0	TMPRSS7	113278493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.810000	0.91950	2.906000	0.99361	0.655000	0.94253	AGA	TMPRSS7	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.463	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	G	XM_293599		111795803	1	no_errors	ENST00000419127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111795803	G	A	111795803	3	1	160	1	0	0	0	0	1	0	0	0	16282	942	33	1	1708	1	TMPRSS7	3	111795803	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10472	111795803	86226627	481	28754										
CD200	4345	genome.wustl.edu	37	chr3	112066545	112066545	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atagtacagtgactctgtctCacccaaatgggaccacgtct	8	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:112066545C>G	ENST00000315711.8	+	4	619	c.562C>G	c.(562-564)Cac>Gac	p.H188D	CD200_ENST00000383681.3_Missense_Mutation_p.H114D|CD200_ENST00000473539.1_Missense_Mutation_p.H213D	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	188	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GACTCTGTCTCACCCAAATGG	0.547																																																	0													136	132	134					3																	112066545		2203	4300	6503	SO:0001583	missense	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.562C>G	3.37:g.112066545C>G	ENSP00000312766:p.His188Asp		B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.H213D	ENST00000315711.8	37	c.637	CCDS2965.1	3	.	.	.	.	.	.	.	.	.	.	C	2.207	-0.381630	0.04966	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.19532	2.14;2.14;2.14	5.66	2.74	0.32292	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.349978	0.24492	N	0.038048	T	0.19248	0.0462	L	0.29908	0.895	0.09310	N	1	B;B;B;B;P	0.36222	0.444;0.119;0.145;0.119;0.544	B;B;B;B;B	0.44224	0.444;0.041;0.069;0.041;0.257	T	0.16394	-1.0404	10	0.20046	T	0.44	-8.4265	11.8151	0.52204	0.4589:0.5411:0.0:0.0	.	188;114;114;188;213	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	D	188;213;114	ENSP00000312766:H188D;ENSP00000420298:H213D;ENSP00000373179:H114D	ENSP00000312766:H188D	H	+	1	0	CD200	113549235	0.118000	0.22208	0.076000	0.20297	0.002000	0.02628	0.739000	0.26173	0.699000	0.31761	-0.169000	0.13324	CAC	CD200	-	pfam_Immunoglobulin		0.547	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200	HGNC	protein_coding	OTTHUMT00000354078.1	C			112066545	1	no_errors	ENST00000473539	ensembl	human	known	70_37	missense	SNP	0.018	G	G	112066545	C	G	112066545	3	3	160	1	0	0	0	0	1	0	0	0	2985	826	29	1	655	1	CD200	3	112066545	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	270742	112066545	85955885	482	28755										
BTLA	151888	genome.wustl.edu	37	chr3	112185007	112185007	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggtgcttcttttacatttCttgccagtcttgagttcggt	9	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:112185007C>T	ENST00000334529.5	-	5	1020	c.818G>A	c.(817-819)aGa>aAa	p.R273K	BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.R225K	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	273					immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TTTTACATTTCTTGCCAGTCT	0.413																																																	0													208	198	202					3																	112185007		2203	4300	6503	SO:0001583	missense	151888			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.818G>A	3.37:g.112185007C>T	ENSP00000333919:p.Arg273Lys		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.R273K	ENST00000334529.5	37	c.818	CCDS33819.1	3	.	.	.	.	.	.	.	.	.	.	C	8.687	0.906470	0.17833	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.32023	1.9;1.47	5.02	-2.99	0.05497	.	0.773279	0.11448	N	0.563008	T	0.16514	0.0397	L	0.54323	1.7	0.09310	N	1	B;P	0.39782	0.007;0.688	B;B	0.31442	0.007;0.13	T	0.18085	-1.0348	10	0.22109	T	0.4	-0.4138	1.035	0.01546	0.1359:0.2611:0.2661:0.3369	.	225;273	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	K	273;225	ENSP00000333919:R273K;ENSP00000373178:R225K	ENSP00000333919:R273K	R	-	2	0	BTLA	113667697	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.517000	0.06275	-0.215000	0.10063	0.655000	0.94253	AGA	BTLA	-	NULL		0.413	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	C	NM_181780		112185007	-1	no_errors	ENST00000334529	ensembl	human	known	70_37	missense	SNP	0.000	T	T	112185007	C	T	112185007	3	4	160	1	0	0	0	0	1	0	0	0	1561	913	32	1	55	1	BTLA	3	112185007	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	118462	112185007	85837423	483	28756										
C3orf17	25871	genome.wustl.edu	37	chr3	112724777	112724777	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtctcagatgatgctttGaagttttgatacctgagcca	9	8	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:112724777G>C	ENST00000314400.5	-	9	1501	c.1310C>G	c.(1309-1311)tCa>tGa	p.S437*	C3orf17_ENST00000383675.2_Nonsense_Mutation_p.S367*|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Nonsense_Mutation_p.S301*	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	437					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGATGCTTTGAAGTTTTGAT	0.378																																																	0													66	60	62					3																	112724777		2203	4300	6503	SO:0001587	stop_gained	25871			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1310C>G	3.37:g.112724777G>C	ENSP00000320251:p.Ser437*		D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Nonsense_Mutation	SNP	NULL	p.S437*	ENST00000314400.5	37	c.1310	CCDS33824.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.255043	0.97417	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	.	.	.	5.76	4.89	0.63831	.	0.285365	0.34314	N	0.004063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.5777	10.9361	0.47247	0.0863:0.0:0.9137:0.0	.	.	.	.	X	437;367;84;301	.	ENSP00000320251:S437X	S	-	2	0	C3orf17	114207467	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.996000	0.49449	1.434000	0.47414	0.655000	0.94253	TCA	C3orf17	-	NULL		0.378	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf17	HGNC	protein_coding	OTTHUMT00000354405.3	G	NM_015412		112724777	-1	no_errors	ENST00000314400	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	112724777	G	C	112724777	4	2	160	1	0	0	0	0	0	1	0	0	2215	1294	45	1	397	1	C3orf17	3	112724777	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	539770	112724777	85297653	484	28757										
WDR52	55779	genome.wustl.edu	37	chr3	113063421	113063421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttcaaacctgtccaatttGcttggttttctctctgattg	6	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113063421G>C	ENST00000393845.2	-	23	3270	c.3204C>G	c.(3202-3204)agC>agG	p.S1068R		NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGTCCAATTTGCTTGGTTTTC	0.428																																																	0													190	154	165					3																	113063421		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.3204C>G	3.37:g.113063421G>C	ENSP00000377428:p.Ser1068Arg			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1068R	ENST00000393845.2	37	c.3204	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699504|1.699504	0.30142|0.30142	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845	.|T	.|0.11385	.|2.78	4.79|4.79	0.985|0.985	0.19779|0.19779	.|.	.|1.926740	.|0.03035	.|U	.|0.152613	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.69142	.|0.962	T|T	0.07986|0.07986	-1.0744|-1.0744	5|10	.|0.87932	.|D	.|0	-5.9655|-5.9655	8.422|8.422	0.32707|0.32707	0.4084:0.0:0.5916:0.0|0.4084:0.0:0.5916:0.0	.|.	.|1068	.|Q96MT7-2	.|.	E|R	205|1068	.|ENSP00000377428:S1068R	.|ENSP00000377428:S1068R	Q|S	-|-	1|3	0|2	WDR52|WDR52	114546111|114546111	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.030000|0.030000	0.12068|0.12068	1.547000|1.547000	0.36190|0.36190	0.068000|0.068000	0.16574|0.16574	0.591000|0.591000	0.81541|0.81541	CAA|AGC	WDR52	-	NULL		0.428	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		G			113063421	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	0.945	C	C	113063421	G	C	113063421	3	2	160	1	0	0	0	0	1	0	0	0	17335	1310	46	4	2412	4	WDR52	3	113063421	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	338644	113063421	84959009	485	28758										
WDR52	55779	genome.wustl.edu	37	chr3	113063537	113063537	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcatgaaccacaatagtatCactttccagtggatctcgaa	8	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113063537C>G	ENST00000393845.2	-	23	3154	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H		NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACAATAGTATCACTTTCCAGT	0.363																																																	0													151	118	128					3																	113063537		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.3088G>C	3.37:g.113063537C>G	ENSP00000377428:p.Asp1030His			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1030H	ENST00000393845.2	37	c.3088	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745210|3.745210	0.69418|0.69418	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845|ENST00000465636	T|.	0.12879|.	2.64|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.669254|.	0.14538|.	U|.	0.313462|.	T|.	0.72882|.	0.3516|.	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	B|.	0.33841|.	0.428|.	B|.	0.35899|.	0.213|.	T|.	0.71994|.	-0.4424|.	10|.	0.72032|.	D|.	0.01|.	-7.5376|-7.5376	16.1369|16.1369	0.81492|0.81492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1030|.	Q96MT7-2|.	.|.	H|S	1030|166	ENSP00000377428:D1030H|.	ENSP00000377428:D1030H|.	D|X	-|-	1|2	0|2	WDR52|WDR52	114546227|114546227	0.959000|0.959000	0.32827|0.32827	0.480000|0.480000	0.27341|0.27341	0.967000|0.967000	0.64934|0.64934	3.580000|3.580000	0.53907|0.53907	2.660000|2.660000	0.90430|0.90430	0.591000|0.591000	0.81541|0.81541	GAT|TGA	WDR52	-	NULL		0.363	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		C			113063537	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	0.934	G	G	113063537	C	G	113063537	3	3	160	1	0	0	0	0	1	0	0	0	17335	826	29	1	2528	1	WDR52	3	113063537	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	116	113063537	84958893	486	28759										
ATP6V1A	523	genome.wustl.edu	37	chr3	113507617	113507617	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttggctgtggaaagacagtGatatcacagtctctatccaa	9	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113507617G>A	ENST00000273398.3	+	7	882	c.774G>A	c.(772-774)gtG>gtA	p.V258V	ATP6V1A_ENST00000538620.1_Silent_p.V225V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	258					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GAAAGACAGTGATATCACAGT	0.423																																																	0													158	156	156					3																	113507617		2203	4300	6503	SO:0001819	synonymous_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.774G>A	3.37:g.113507617G>A			B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.V258	ENST00000273398.3	37	c.774	CCDS2976.1	3																																																																																			ATP6V1A	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1	G	NM_001690		113507617	1	no_errors	ENST00000273398	ensembl	human	known	70_37	silent	SNP	0.999	A	A	113507617	G	A	113507617	2	1	160	1	0	0	0	0	0	0	0	1	1178	1277	45	1		1	ATP6V1A	3	113507617	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	444080	113507617	84514813	487	28760										
DRD3	1814	genome.wustl.edu	37	chr3	113850143	113850143	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgagtcttctcctctcttttCaactctcctcctctttcttg	3	16	7	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:113850143C>G	ENST00000460779.1	-	7	1117	c.828G>C	c.(826-828)ttG>ttC	p.L276F	DRD3_ENST00000295881.7_Missense_Mutation_p.L276F|DRD3_ENST00000467632.1_Missense_Mutation_p.L276F|DRD3_ENST00000383673.2_Missense_Mutation_p.L276F	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	276					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTCTCTTTTCAACTCTCCTC	0.517																																																	0													182	186	185					3																	113850143		2203	4300	6503	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.828G>C	3.37:g.113850143C>G	ENSP00000419402:p.Leu276Phe		A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L276F	ENST00000460779.1	37	c.828	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.252916	0.01457	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.73469	-0.73;-0.73;-0.73;-0.75	5.52	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	1.350910	0.04620	N	0.401860	T	0.72078	0.3416	L	0.60012	1.86	0.09310	N	1	B;B;B;B	0.27013	0.166;0.166;0.166;0.03	B;B;B;B	0.35073	0.195;0.126;0.126;0.012	T	0.53570	-0.8420	10	0.20046	T	0.44	.	4.4871	0.11796	0.2143:0.5991:0.0:0.1866	.	276;276;276;276	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	F	276	ENSP00000419402:L276F;ENSP00000420662:L276F;ENSP00000373169:L276F;ENSP00000295881:L276F	ENSP00000281274:L276F	L	-	3	2	DRD3	115332833	0.981000	0.34729	0.025000	0.17156	0.027000	0.11550	1.512000	0.35812	0.823000	0.34589	-0.157000	0.13467	TTG	DRD3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	C	NM_000796.3		113850143	-1	no_errors	ENST00000383673	ensembl	human	known	70_37	missense	SNP	0.014	G	G	113850143	C	G	113850143	3	3	160	1	0	0	0	0	1	0	0	0	4768	825	29	1	382	1	DRD3	3	113850143	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	342526	113850143	84172287	488	28761										
ZBTB20	26137	genome.wustl.edu	37	chr3	114057933	114057933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgggcagacggagcagacGtaagtggtcccctccgtgca	15	12	0	2	rs372379560		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:114057933G>A	ENST00000474710.1	-	5	2323	c.2145C>T	c.(2143-2145)taC>taT	p.Y715Y	ZBTB20_ENST00000393785.2_Silent_p.Y642Y|ZBTB20_ENST00000471418.1_Silent_p.Y642Y|ZBTB20_ENST00000462705.1_Silent_p.Y642Y|ZBTB20_ENST00000464560.1_Silent_p.Y642Y|ZBTB20_ENST00000481632.1_Silent_p.Y642Y|ZBTB20_ENST00000357258.3_Silent_p.Y642Y	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	715						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Y642Y(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGAGCAGACGTAAGTGGTCC	0.602																																					NSCLC(69;748 1344 9802 11203 30933)												1	Substitution - coding silent(1)	prostate(1)						G	,,,,,,	0,4406		0,0,2203	68	66	67		2145,1926,1926,1926,1926,1926,1926	4.1	1	3		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZBTB20	NM_001164342.1,NM_001164343.1,NM_001164344.1,NM_001164345.1,NM_001164346.1,NM_001164347.1,NM_015642.4	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	715/742,642/669,642/669,642/669,642/669,642/669,642/669	114057933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2145C>T	3.37:g.114057933G>A			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y715	ENST00000474710.1	37	c.2145	CCDS54626.1	3																																																																																			ZBTB20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	G	NM_015642		114057933	-1	no_errors	ENST00000474710	ensembl	human	known	70_37	silent	SNP	1.000	A	A	114057933	G	A	114057933	2	1	160	1	0	0	0	0	0	0	0	1	17559	1140	40	2		2	ZBTB20	3	114057933	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	207790	114057933	83964497	489	28762										
ZBTB20	26137	genome.wustl.edu	37	chr3	114069347	114069347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccaggggctgtggcaggctGaagaggaaaggcttggggcc	20	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:114069347G>C	ENST00000474710.1	-	4	1756	c.1578C>G	c.(1576-1578)ttC>ttG	p.F526L	ZBTB20_ENST00000393785.2_Missense_Mutation_p.F453L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.F453L|ZBTB20_ENST00000462705.1_Missense_Mutation_p.F453L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.F453L|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.F453L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.F453L	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	526						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGCAGGCTGAAGAGGAAAG	0.642																																					NSCLC(69;748 1344 9802 11203 30933)												0													46	51	49					3																	114069347		2203	4300	6503	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1578C>G	3.37:g.114069347G>C	ENSP00000419153:p.Phe526Leu		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F526L	ENST00000474710.1	37	c.1578	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917461	0.73098	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09255	3.02;3.02;3.02;3.02;3.0;3.02;3.02	5.86	5.86	0.93980	.	0.115890	0.64402	D	0.000014	T	0.08537	0.0212	N	0.19112	0.55	0.80722	D	1	P	0.38767	0.646	B	0.28553	0.091	T	0.14868	-1.0457	10	0.59425	D	0.04	.	20.1789	0.98193	0.0:0.0:1.0:0.0	.	526	Q9HC78	ZBT20_HUMAN	L	453;453;453;453;526;453;453	ENSP00000420324:F453L;ENSP00000377375:F453L;ENSP00000418092:F453L;ENSP00000419902:F453L;ENSP00000419153:F526L;ENSP00000349803:F453L;ENSP00000417307:F453L	ENSP00000349803:F453L	F	-	3	2	ZBTB20	115552037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.465000	0.97660	2.763000	0.94921	0.557000	0.71058	TTC	ZBTB20	-	NULL		0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	G	NM_015642		114069347	-1	no_errors	ENST00000474710	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114069347	G	C	114069347	3	2	160	1	0	0	0	0	1	0	0	0	17559	1281	45	1	655	1	ZBTB20	3	114069347	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11414	114069347	83953083	490	28763										
IGSF11	152404	genome.wustl.edu	37	chr3	118647442	118647442	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actggtaggtgccagtgtctGataactgagtgttattaatg	12	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:118647442G>C	ENST00000393775.2	-	3	643	c.338C>G	c.(337-339)tCa>tGa	p.S113*	IGSF11_ENST00000354673.2_Nonsense_Mutation_p.S112*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S113*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S112*|IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S113*|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S112*	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	113	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGTGTCTGATAACTGAGT	0.512																																																	0													121	106	111					3																	118647442		2203	4300	6503	SO:0001587	stop_gained	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.338C>G	3.37:g.118647442G>C	ENSP00000377370:p.Ser113*		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S113*	ENST00000393775.2	37	c.338	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.656177	0.96724	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903;ENST00000483401	.	.	.	4.31	3.43	0.39272	.	0.208644	0.42964	D	0.000639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.0622	0.53568	0.0899:0.0:0.9101:0.0	.	.	.	.	X	112;113;113;112;112;113;54	.	ENSP00000346700:S112X	S	-	2	0	IGSF11	120130132	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	7.298000	0.78815	2.402000	0.81655	0.563000	0.77884	TCA	IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	G			118647442	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	118647442	G	C	118647442	4	2	160	1	0	0	0	0	0	1	0	0	7618	1294	45	1	977	1	IGSF11	3	118647442	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4578095	118647442	79374988	491	28764										
NR1I2	8856	genome.wustl.edu	37	chr3	119526272	119526272	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttcaatgtcatgacatgtGaaggatgcaagggctttttc	10	7	2	2	rs377629240		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:119526272G>A	ENST00000337940.4	+	2	340	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	NR1I2_ENST00000466380.1_Missense_Mutation_p.E59K|NR1I2_ENST00000393716.2_Missense_Mutation_p.E59K	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	59			R -> C. {ECO:0000269|PubMed:15618712}.		drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CATGACATGTGAAGGATGCAA	0.542																																																	0								G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	113	109	111		175,292,175	5.1	1	3		111	0,8600		0,0,4300	no	missense,missense,missense	NR1I2	NM_003889.3,NM_022002.2,NM_033013.2	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	59/435,98/474,59/398	119526272	1,13005	2203	4300	6503	SO:0001583	missense	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.292G>A	3.37:g.119526272G>A	ENSP00000336528:p.Glu98Lys		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E98K	ENST00000337940.4	37	c.292	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.460914	0.96240	2.27E-4	0.0	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.98060	-4.69;-4.69;-4.69	5.06	5.06	0.68205	.	0.121154	0.53938	D	0.000051	D	0.98782	0.9590	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99799	1.1035	10	0.87932	D	0	.	15.9144	0.79500	0.0:0.0:1.0:0.0	.	98;82	F1D8P9;O75469-6	.;.	K	59;59;98	ENSP00000377319:E59K;ENSP00000420297:E59K;ENSP00000336528:E98K	ENSP00000336528:E98K	E	+	1	0	NR1I2	121008962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.093000	0.94163	2.342000	0.79632	0.591000	0.81541	GAA	NR1I2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.542	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	G			119526272	1	no_errors	ENST00000337940	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119526272	G	A	119526272	3	1	160	1	0	0	0	0	1	0	0	0	10644	1291	45	1	298	1	NR1I2	3	119526272	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	878830	119526272	78496158	492	28765										
GPR156	165829	genome.wustl.edu	37	chr3	119962888	119962888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcatgaaggggtctccgatCcagctcctggccaggaaaac	11	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:119962888C>T	ENST00000464295.1	-	2	503	c.58G>A	c.(58-60)Gat>Aat	p.D20N	GPR156_ENST00000315843.3_Missense_Mutation_p.D20N|GPR156_ENST00000461057.1_Missense_Mutation_p.D20N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTCTCCGATCCAGCTCCTGG	0.512											OREG0015730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126	103	111					3																	119962888		2203	4300	6503	SO:0001583	missense	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.58G>A	3.37:g.119962888C>T	ENSP00000417261:p.Asp20Asn	1500	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.D20N	ENST00000464295.1	37	c.58	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	8.367	0.834443	0.16820	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.23552	1.9;1.9;1.9	4.96	1.95	0.26073	.	0.973347	0.08389	N	0.953203	T	0.12860	0.0312	N	0.14661	0.345	0.27603	N	0.948894	B;B	0.17465	0.022;0.022	B;B	0.12837	0.008;0.008	T	0.34700	-0.9818	9	.	.	.	-0.3338	3.3744	0.07232	0.2043:0.5779:0.0:0.2179	.	20;20	E9PFZ4;Q8NFN8	.;GP156_HUMAN	N	20	ENSP00000417261:D20N;ENSP00000324553:D20N;ENSP00000418758:D20N	.	D	-	1	0	GPR156	121445578	0.110000	0.22057	0.978000	0.43139	0.656000	0.38851	0.038000	0.13862	0.667000	0.31107	0.555000	0.69702	GAT	GPR156	-	NULL		0.512	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	C	NM_153002		119962888	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	missense	SNP	0.910	T	T	119962888	C	T	119962888	3	4	160	1	0	0	0	0	1	0	0	0	6680	855	30	1	2422	1	GPR156	3	119962888	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	436616	119962888	78059542	493	28766										
POLQ	10721	genome.wustl.edu	37	chr3	121208673	121208673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagatcgaaaacttctgctCatcttttctgaattgaaatt	5	8	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121208673C>G	ENST00000264233.5	-	16	3233	c.3105G>C	c.(3103-3105)atG>atC	p.M1035I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1035					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)			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)		AACTTCTGCTCATCTTTTCTG	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													66	74	71					3																	121208673		2203	4300	6503	SO:0001583	missense	10721			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.3105G>C	3.37:g.121208673C>G	ENSP00000264233:p.Met1035Ile		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.M1035I	ENST00000264233.5	37	c.3105	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438637	0.01098	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45276	0.9	4.89	2.03	0.26663	.	1.177160	0.05773	N	0.607078	T	0.23054	0.0557	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.21724	-1.0237	10	0.22706	T	0.39	.	3.3674	0.07208	0.1768:0.5584:0.171:0.0938	.	1035;207	O75417;O75417-2	DPOLQ_HUMAN;.	I	658;1035;1171	ENSP00000264233:M1035I	ENSP00000264233:M1035I	M	-	3	0	POLQ	122691363	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.359000	0.07632	0.230000	0.21059	0.563000	0.77884	ATG	POLQ	-	NULL		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121208673	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	0.000	G	G	121208673	C	G	121208673	3	3	160	1	0	0	0	0	1	0	0	0	12232	826	29	1	4727	1	POLQ	3	121208673	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1245785	121208673	76813757	494	28767										
FBXO40	51725	genome.wustl.edu	37	chr3	121345634	121345634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacctgaagtcctgtcctttCaacattgtagagcacaaaac	6	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121345634C>G	ENST00000338040.4	+	4	2421	c.2007C>G	c.(2005-2007)ttC>ttG	p.F669L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	669					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCTGTCCTTTCAACATTGTAG	0.488																																																	0													130	128	129					3																	121345634		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2007C>G	3.37:g.121345634C>G	ENSP00000337510:p.Phe669Leu		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.F669L	ENST00000338040.4	37	c.2007	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.527895	0.96446	.	.	ENSG00000163833	ENST00000338040	T	0.44482	0.92	6.17	6.17	0.99709	F-box domain, Skp2-like (1);	0.047718	0.85682	D	0.000000	T	0.64962	0.2646	M	0.66939	2.045	0.53005	D	0.999968	D	0.71674	0.998	D	0.80764	0.994	T	0.63761	-0.6564	10	0.66056	D	0.02	-21.9648	18.3732	0.90420	0.0:1.0:0.0:0.0	.	669	Q9UH90	FBX40_HUMAN	L	669	ENSP00000337510:F669L	ENSP00000337510:F669L	F	+	3	2	FBXO40	122828324	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.970000	0.63742	2.941000	0.99782	0.655000	0.94253	TTC	FBXO40	-	superfamily_F-box_dom_cyclin-like		0.488	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	C	NM_016298		121345634	1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121345634	C	G	121345634	3	3	160	1	0	0	0	0	1	0	0	0	5767	825	29	1	2017	1	FBXO40	3	121345634	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	136961	121345634	76676796	495	28768										
GOLGB1	2804	genome.wustl.edu	37	chr3	121415989	121415989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttacttgtgattaacttctgGataattgcttggttttcact	7	6	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121415989G>C	ENST00000340645.5	-	13	3491	c.3366C>G	c.(3364-3366)atC>atG	p.I1122M	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I1127M	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1122					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAACTTCTGGATAATTGCTT	0.413																																																	0													201	177	185					3																	121415989		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3366C>G	3.37:g.121415989G>C	ENSP00000341848:p.Ile1122Met		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.I1122M	ENST00000340645.5	37	c.3366	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.577|7.577	0.668005|0.668005	0.14710|0.14710	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25250|.	2.4;2.4;1.81|.	5.1|5.1	1.72|1.72	0.24424|0.24424	.|.	0.194699|.	0.36628|.	N|.	0.002483|.	T|T	0.48132|0.48132	0.1483|0.1483	L|L	0.46157|0.46157	1.445|1.445	0.34319|0.34319	D|D	0.686302|0.686302	D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D|.	0.85130|.	0.994;0.996;0.997;0.996;0.952|.	T|T	0.53222|0.53222	-0.8469|-0.8469	10|5	0.30854|.	T|.	0.27|.	.|.	7.0713|7.0713	0.25179|0.25179	0.4409:0.0:0.5591:0.0|0.4409:0.0:0.5591:0.0	.|.	1047;1086;1127;1127;1122|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	M|C	1122;1127;1086;934|993	ENSP00000341848:I1122M;ENSP00000377275:I1127M;ENSP00000418231:I1086M|.	ENSP00000341848:I1122M|.	I|S	-|-	3|2	3|0	GOLGB1|GOLGB1	122898679|122898679	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.661000|0.661000	0.39034|0.39034	0.261000|0.261000	0.18442|0.18442	0.132000|0.132000	0.18615|0.18615	0.561000|0.561000	0.74099|0.74099	ATC|TCC	GOLGB1	-	superfamily_Prefoldin		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	G	NM_004487		121415989	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.999	C	C	121415989	G	C	121415989	3	2	160	1	0	0	0	0	1	0	0	0	6584	1164	41	1	6453	1	GOLGB1	3	121415989	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	70355	121415989	76606441	496	28769										
GOLGB1	2804	genome.wustl.edu	37	chr3	121435699	121435699	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactgcagctcttgtccagtCttttgaagactcaaaatatg	8	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121435699C>G	ENST00000340645.5	-	9	1283	c.1158G>C	c.(1156-1158)aaG>aaC	p.K386N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K391N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	386					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTGTCCAGTCTTTTGAAGAC	0.458																																																	0													126	116	119					3																	121435699		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1158G>C	3.37:g.121435699C>G	ENSP00000341848:p.Lys386Asn		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.K386N	ENST00000340645.5	37	c.1158	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.971|6.971	0.549204|0.549204	0.13374|0.13374	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25912|.	2.36;2.36;1.77|.	6.07|6.07	2.12|2.12	0.27331|0.27331	.|.	0.270884|.	0.32372|.	N|.	0.006196|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.70595|0.70595	2.14|2.14	0.28488|0.28488	N|N	0.914602|0.914602	D;D;D;D;D|.	0.56746|.	0.959;0.977;0.959;0.959;0.959|.	P;P;P;P;P|.	0.53593|.	0.647;0.73;0.647;0.647;0.647|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.59425|.	D|.	0.04|.	.|.	2.591|2.591	0.04842|0.04842	0.1521:0.5421:0.147:0.1588|0.1521:0.5421:0.147:0.1588	.|.	311;350;391;391;386|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|T	386;391;350;198|257	ENSP00000341848:K386N;ENSP00000377275:K391N;ENSP00000418231:K350N|.	ENSP00000341848:K386N|.	K|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122918389|122918389	0.011000|0.011000	0.17503|0.17503	0.905000|0.905000	0.35620|0.35620	0.012000|0.012000	0.07955|0.07955	-0.232000|-0.232000	0.09055|0.09055	0.456000|0.456000	0.26937|0.26937	-0.844000|-0.844000	0.03045|0.03045	AAG|AGA	GOLGB1	-	NULL		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121435699	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.735	G	G	121435699	C	G	121435699	3	3	160	1	0	0	0	0	1	0	0	0	6584	912	32	1	8677	1	GOLGB1	3	121435699	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19710	121435699	76586731	497	28770										
SLC15A2	6565	genome.wustl.edu	37	chr3	121648193	121648193	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaatgggatgacaaccgtGaggtttgaatgtcaatgaga	12	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121648193G>C	ENST00000489711.1	+	17	1939	c.1551G>C	c.(1549-1551)gtG>gtC	p.V517V	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Silent_p.V486V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	517					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGACAACCGTGAGGTTTGAAT	0.393																																																	0													156	147	150					3																	121648193		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1551G>C	3.37:g.121648193G>C			A8K1A5|B4E2A7	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V517	ENST00000489711.1	37	c.1551	CCDS3007.1	3																																																																																			SLC15A2	-	tigrfam_Oligopep_transport		0.393	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	G	NM_021082		121648193	1	no_errors	ENST00000489711	ensembl	human	known	70_37	silent	SNP	0.739	C	C	121648193	G	C	121648193	2	2	160	1	0	0	0	0	0	0	0	1	14429	1277	45	1		1	SLC15A2	3	121648193	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	212494	121648193	76374237	498	28771										
CASR	846	genome.wustl.edu	37	chr3	121980728	121980728	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttgagcccctcatcaaggaGattgtccggcgcaatatcac	9	13	3	2	rs199729084		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121980728G>C	ENST00000490131.1	+	4	1218	c.846G>C	c.(844-846)gaG>gaC	p.E282D	CASR_ENST00000498619.1_Missense_Mutation_p.E282D|CASR_ENST00000296154.5_Missense_Mutation_p.E282D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	282					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATCAAGGAGATTGTCCGGC	0.567																																																	0													66	69	68					3																	121980728		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.846G>C	3.37:g.121980728G>C	ENSP00000418685:p.Glu282Asp		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.E282D	ENST00000490131.1	37	c.846	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676722	0.67928	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83506	-1.73;-1.73;-1.73	6.17	2.43	0.29744	Extracellular ligand-binding receptor (1);	0.085232	0.85682	D	0.000000	D	0.90031	0.6887	M	0.82823	2.61	0.51767	D	0.999939	D;P	0.69078	0.997;0.928	D;P	0.79108	0.992;0.506	D	0.89477	0.3747	10	0.66056	D	0.02	.	10.9639	0.47401	0.2544:0.0:0.7456:0.0	.	282;282	E7ENE0;P41180	.;CASR_HUMAN	D	282	ENSP00000418685:E282D;ENSP00000420194:E282D;ENSP00000296154:E282D	ENSP00000296154:E282D	E	+	3	2	CASR	123463418	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	2.453000	0.44970	0.500000	0.27991	-0.126000	0.14955	GAG	CASR	-	pfam_ANF_lig-bd_rcpt		0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		121980728	1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121980728	G	C	121980728	3	2	160	1	0	0	0	0	1	0	0	0	2687	933	33	1	856	1	CASR	3	121980728	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	332535	121980728	76041702	499	28772										
CASR	846	genome.wustl.edu	37	chr3	121980771	121980771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaagatctggctggccagcGaggcctgggccagctcctcc	14	15	1	1	rs121909259		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:121980771G>A	ENST00000490131.1	+	4	1261	c.889G>A	c.(889-891)Gag>Aag	p.E297K	CASR_ENST00000498619.1_Missense_Mutation_p.E297K|CASR_ENST00000296154.5_Missense_Mutation_p.E297K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	297			E -> K (in HHC1 and NSHPT). {ECO:0000269|PubMed:7916660}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTGGCCAGCGAGGCCTGGGC	0.597																																																	0			GRCh37	CM930078	CASR	M	rs121909259						57	54	55					3																	121980771		2202	4300	6502	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.889G>A	3.37:g.121980771G>A	ENSP00000418685:p.Glu297Lys		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.E297K	ENST00000490131.1	37	c.889	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.363286	0.95877	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87103	-2.21;-2.21;-2.21	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.90369	3.11	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.95137	0.8260	9	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	297;297	E7ENE0;P41180	.;CASR_HUMAN	K	297	ENSP00000418685:E297K;ENSP00000420194:E297K;ENSP00000296154:E297K	ENSP00000296154:E297K	E	+	1	0	CASR	123463461	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	CASR	-	pfam_ANF_lig-bd_rcpt		0.597	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		121980771	1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	A	A	121980771	G	A	121980771	3	1	160	1	0	0	0	0	1	0	0	0	2687	1059	37	1	899	1	CASR	3	121980771	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	43	121980771	76041659	500	28773										
CASR	846	genome.wustl.edu	37	chr3	122003100	122003100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatcttcatcacgtgccacGagggctccctcatggccctg	9	16	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122003100G>A	ENST00000490131.1	+	7	2671	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.E777K|CASR_ENST00000296154.5_Missense_Mutation_p.E767K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	767			E -> K (in HYPOC1). {ECO:0000269|PubMed:15551332}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACGTGCCACGAGGGCTCCCT	0.587																																																	0			GRCh37	CM050191	CASR	M							51	47	49					3																	122003100		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2299G>A	3.37:g.122003100G>A	ENSP00000418685:p.Glu767Lys		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.E777K	ENST00000490131.1	37	c.2329	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613836	0.87359	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87966	-2.32;-2.32;-2.32	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.042301	0.85682	D	0.000000	D	0.90055	0.6894	N	0.26162	0.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.952	D	0.90408	0.4407	10	0.56958	D	0.05	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	777;767	E7ENE0;P41180	.;CASR_HUMAN	K	767;777;767	ENSP00000418685:E767K;ENSP00000420194:E777K;ENSP00000296154:E767K	ENSP00000296154:E767K	E	+	1	0	CASR	123485790	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.864000	0.99589	2.802000	0.96397	0.561000	0.74099	GAG	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.587	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		122003100	1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122003100	G	A	122003100	3	1	160	1	0	0	0	0	1	0	0	0	2687	1059	37	1	2351	1	CASR	3	122003100	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	22329	122003100	76019330	501	28774										
KPNA1	3836	genome.wustl.edu	37	chr3	122186234	122186234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctgacataacttcttcttCtgtttcttcttctgctgtag	5	10	7	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122186234C>G	ENST00000344337.6	-	3	348	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	58					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ACTTCTTCTTCTGTTTCTTCT	0.363																																					Melanoma(12;340 801 11196 19797)												0													171	158	162					3																	122186234		2202	4300	6502	SO:0001583	missense	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.172G>C	3.37:g.122186234C>G	ENSP00000343701:p.Glu58Gln		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E58Q	ENST00000344337.6	37	c.172	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711751	0.68730	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.56	4.56	0.56223	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.453686	0.23033	N	0.052703	T	0.39835	0.1093	L	0.56199	1.76	0.58432	D	0.999997	B	0.30889	0.299	B	0.34093	0.175	T	0.17930	-1.0353	10	0.18276	T	0.48	-11.9303	14.8756	0.70491	0.0:1.0:0.0:0.0	.	58	P52294	IMA1_HUMAN	Q	58	ENSP00000343701:E58Q;ENSP00000419890:E58Q;ENSP00000417166:E58Q;ENSP00000417319:E58Q;ENSP00000419257:E58Q	ENSP00000343701:E58Q	E	-	1	0	KPNA1	123668924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.911000	0.69939	2.356000	0.79943	0.467000	0.42956	GAA	KPNA1	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold		0.363	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	C	NM_002264		122186234	-1	no_errors	ENST00000344337	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122186234	C	G	122186234	3	3	160	1	0	0	0	0	1	0	0	0	8449	922	32	1	1492	1	KPNA1	3	122186234	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	183134	122186234	75836196	502	28775										
PARP14	54625	genome.wustl.edu	37	chr3	122447317	122447317	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcattaattgtgcctccttCaaagaaccctcaaaatccta	3	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122447317C>G	ENST00000474629.2	+	17	5545	c.5279C>G	c.(5278-5280)tCa>tGa	p.S1760*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1760	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTGCCTCCTTCAAAGAACCCT	0.398																																																	0													157	152	154					3																	122447317		1932	4152	6084	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5279C>G	3.37:g.122447317C>G	ENSP00000418194:p.Ser1760*		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1760*	ENST00000474629.2	37	c.5279	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	44	11.159975	0.99524	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.71	3.93	0.45458	.	0.612219	0.14588	N	0.310473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.7663	0.51933	0.0:0.8558:0.0:0.1442	.	.	.	.	X	1760;1679;756	.	ENSP00000381224:S756X	S	+	2	0	PARP14	123930007	0.004000	0.15560	0.016000	0.15963	0.672000	0.39443	2.152000	0.42272	0.877000	0.35895	0.655000	0.94253	TCA	PARP14	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122447317	1	no_errors	ENST00000474629	ensembl	human	known	70_37	nonsense	SNP	0.014	G	G	122447317	C	G	122447317	4	3	160	1	0	0	0	0	0	1	0	0	11482	838	29	1	5345	1	PARP14	3	122447317	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	261083	122447317	75575113	503	28776										
PDIA5	10954	genome.wustl.edu	37	chr3	122821309	122821309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgaaagttgacctgagcccGaaggacaaaaaggttgaatt	11	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122821309G>A	ENST00000316218.7	+	4	404	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	103					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ACCTGAGCCCGAAGGACAAAA	0.393																																																	0													124	117	119					3																	122821309		2203	4300	6503	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.309G>A	3.37:g.122821309G>A			D3DN95|Q9BV43	Silent	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.P103	ENST00000316218.7	37	c.309	CCDS3020.1	3																																																																																			PDIA5	-	superfamily_Thioredoxin-like_fold		0.393	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	G	NM_006810		122821309	1	no_errors	ENST00000316218	ensembl	human	known	70_37	silent	SNP	0.899	A	A	122821309	G	A	122821309	2	1	160	1	0	0	0	0	0	0	0	1	11695	1045	37	1		1	PDIA5	3	122821309	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	373992	122821309	75201121	504	28777										
PDIA5	10954	genome.wustl.edu	37	chr3	122865098	122865098	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaagaagtttctcgagtgGatgcaaaagtaagtgttacg	12	4	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:122865098G>A	ENST00000316218.7	+	13	1229	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	378	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTCTCGAGTGGATGCAAAAGT	0.448																																																	0													95	97	96					3																	122865098		2203	4300	6503	SO:0001587	stop_gained	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1134G>A	3.37:g.122865098G>A	ENSP00000323313:p.Trp378*		D3DN95|Q9BV43	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.W378*	ENST00000316218.7	37	c.1134	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.777890	0.96929	.	.	ENSG00000065485	ENST00000316218	.	.	.	5.33	5.33	0.75918	.	0.304055	0.36972	N	0.002312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000323313:W378X	W	+	3	0	PDIA5	124347788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.711000	0.74675	2.644000	0.89710	0.655000	0.94253	TGG	PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.448	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	G	NM_006810		122865098	1	no_errors	ENST00000316218	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	122865098	G	A	122865098	4	1	160	1	0	0	0	0	0	1	0	0	11695	1183	41	1	1184	1	PDIA5	3	122865098	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	43789	122865098	75157332	505	28778										
KALRN	8997	genome.wustl.edu	37	chr3	123987683	123987683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctggactacaaccatgagGagtggatcgaactgcggctc	12	12	0	1	rs151088783		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:123987683G>C	ENST00000240874.3	+	5	701	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KALRN_ENST00000460856.1_Missense_Mutation_p.E182Q|KALRN_ENST00000360013.3_Missense_Mutation_p.E182Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	182					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAACCATGAGGAGTGGATCGA	0.607																																																	0													71	69	70					3																	123987683		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.544G>C	3.37:g.123987683G>C	ENSP00000240874:p.Glu182Gln		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E182Q	ENST00000240874.3	37	c.544	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.762035|2.762035	0.49468|0.49468	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	T;T;T|.	0.14144|.	2.53;2.53;2.53|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cellular retinaldehyde-binding/triple function, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68495|0.68495	0.3007|0.3007	L|L	0.42581|0.42581	1.335|1.335	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63880|.	0.988;0.993;0.993|.	P;D;D|.	0.72982|.	0.864;0.979;0.936|.	T|T	0.62661|0.62661	-0.6807|-0.6807	10|5	0.19147|.	T|.	0.46|.	.|.	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	182;182;182|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	Q|S	182|209;159	ENSP00000418611:E182Q;ENSP00000240874:E182Q;ENSP00000353109:E182Q|.	ENSP00000240874:E182Q|.	E|R	+|+	1|3	0|2	KALRN|KALRN	125470373|125470373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	7.827000|7.827000	0.86722|0.86722	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|AGG	KALRN	-	NULL		0.607	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	G	NM_003947		123987683	1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123987683	G	C	123987683	3	2	160	1	0	0	0	0	1	0	0	0	7995	1175	41	1	562	1	KALRN	3	123987683	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1122585	123987683	74034747	506	28779										
KALRN	8997	genome.wustl.edu	37	chr3	124369774	124369774	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaacagaaagccaaggccctGagaggcaggatgtaagtggc	15	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:124369774G>A	ENST00000291478.5	+	5	853	c.690G>A	c.(688-690)ctG>ctA	p.L230L	KALRN_ENST00000360013.3_Silent_p.L1927L|KALRN_ENST00000393496.1_Silent_p.L268L|KALRN_ENST00000459915.1_Silent_p.L19L|KALRN_ENST00000428018.2_Silent_p.L198L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1926					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCAAGGCCCTGAGAGGCAGGA	0.567																																																	0													83	73	76					3																	124369774		2203	4300	6503	SO:0001819	synonymous_variant	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.690G>A	3.37:g.124369774G>A			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L1927	ENST00000291478.5	37	c.5781	CCDS3028.1	3																																																																																			KALRN	-	superfamily_DH-domain		0.567	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	G	NM_003947		124369774	1	no_errors	ENST00000360013	ensembl	human	known	70_37	silent	SNP	0.999	A	A	124369774	G	A	124369774	2	1	160	1	0	0	0	0	0	0	0	1	7995	1277	45	1		1	KALRN	3	124369774	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	382091	124369774	73652656	507	28780										
CCDC37	348807	genome.wustl.edu	37	chr3	126138978	126138978	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaagaagccctggaggtttCtgcagacgatgcggctgggg	16	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:126138978C>G	ENST00000352312.1	+	11	1087	c.988C>G	c.(988-990)Ctg>Gtg	p.L330V	CCDC37_ENST00000505024.1_Missense_Mutation_p.L331V|CCDC37_ENST00000393425.1_Missense_Mutation_p.L331V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	330										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CTGGAGGTTTCTGCAGACGAT	0.642																																																	0													28	29	29					3																	126138978		2202	4300	6502	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.988C>G	3.37:g.126138978C>G	ENSP00000344749:p.Leu330Val		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.L331V	ENST00000352312.1	37	c.991	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	C	4.435	0.080402	0.08533	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32023	1.47;1.47;1.47	3.37	2.48	0.30137	.	1.680790	0.02928	N	0.138848	T	0.28001	0.0690	L	0.57536	1.79	0.09310	N	1	P;P	0.39022	0.655;0.524	B;B	0.30855	0.121;0.057	T	0.24584	-1.0156	10	0.30078	T	0.28	-0.7395	6.2964	0.21089	0.0:0.863:0.0:0.137	.	331;330	Q494V2-2;Q494V2	.;CCD37_HUMAN	V	330;331;331	ENSP00000344749:L330V;ENSP00000377076:L331V;ENSP00000423046:L331V	ENSP00000344749:L330V	L	+	1	2	CCDC37	127621668	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	1.130000	0.31393	0.991000	0.38814	0.491000	0.48974	CTG	CCDC37	-	NULL		0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	C	NM_182628		126138978	1	no_errors	ENST00000393425	ensembl	human	known	70_37	missense	SNP	0.002	G	G	126138978	C	G	126138978	3	3	160	1	0	0	0	0	1	0	0	0	2814	912	32	1	1026	1	CCDC37	3	126138978	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1769204	126138978	71883452	508	28781										
CCDC37	348807	genome.wustl.edu	37	chr3	126142171	126142171	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgccatctcttcgcaggtcGaactctcccatcccccccac	5	21	2	0	rs376547245		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:126142171G>A	ENST00000352312.1	+	12	1185	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S	CCDC37_ENST00000505024.1_Silent_p.S363S|CCDC37_ENST00000393425.1_Silent_p.S363S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	362										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTCGCAGGTCGAACTCTCCCA	0.642																																																	0								G		0,4406		0,0,2203	43	37	39		1086	-2.7	0	3		39	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	CCDC37	NM_182628.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		362/612	126142171	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1086G>A	3.37:g.126142171G>A			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.S363	ENST00000352312.1	37	c.1089	CCDS3037.1	3																																																																																			CCDC37	-	NULL		0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126142171	1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	0.011	A	A	126142171	G	A	126142171	2	1	160	1	0	0	0	0	0	0	0	1	2814	1045	37	1		1	CCDC37	3	126142171	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3193	126142171	71880259	509	28782										
MCM2	4171	genome.wustl.edu	37	chr3	127327821	127327821	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaactgaccgatgaagatgtGaagatgatcactagcctctc	10	9	2	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:127327821G>A	ENST00000265056.7	+	8	1627	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	461					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						ATGAAGATGTGAAGATGATCA	0.547																																																	0													142	117	126					3																	127327821		2203	4300	6503	SO:0001819	synonymous_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1383G>A	3.37:g.127327821G>A			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase	p.V461	ENST00000265056.7	37	c.1383	CCDS3043.1	3																																																																																			MCM2	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.547	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	G			127327821	1	no_errors	ENST00000265056	ensembl	human	known	70_37	silent	SNP	1.000	A	A	127327821	G	A	127327821	2	1	160	1	0	0	0	0	0	0	0	1	9409	1277	45	1		1	MCM2	3	127327821	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1185650	127327821	70694609	510	28783										
GATA2	2624	genome.wustl.edu	37	chr3	128200129	128200129	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccggttccgagtctggatCccttccttcttcatggtcag	9	13	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128200129C>T	ENST00000341105.2	-	6	1507	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	GATA2_ENST00000487848.1_Silent_p.G392G|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.G378G	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	392					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GAGTCTGGATCCCTTCCTTCT	0.542			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													107	106	106					3																	128200129		2203	4300	6503	SO:0001819	synonymous_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1176G>A	3.37:g.128200129C>T			D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G392	ENST00000341105.2	37	c.1176	CCDS3049.1	3																																																																																			GATA2	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA		0.542	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	C	NM_032638		128200129	-1	no_errors	ENST00000341105	ensembl	human	known	70_37	silent	SNP	0.901	T	T	128200129	C	T	128200129	2	4	160	1	0	0	0	0	0	0	0	1	6273	842	30	1		1	GATA2	3	128200129	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	872308	128200129	69822301	511	28784										
RPN1	6184	genome.wustl.edu	37	chr3	128341190	128341190	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaaggcctattctcttgttGaccagggtcaagacctgctc	9	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128341190G>C	ENST00000296255.3	-	9	1506	c.1458C>G	c.(1456-1458)gtC>gtG	p.V486V	RPN1_ENST00000497289.1_Silent_p.V314V	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	486					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TTCTCTTGTTGACCAGGGTCA	0.537			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													139	105	116					3																	128341190		2203	4300	6503	SO:0001819	synonymous_variant	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1458C>G	3.37:g.128341190G>C			B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	pfam_Ribophorin_I	p.V486	ENST00000296255.3	37	c.1458	CCDS3051.1	3																																																																																			RPN1	-	NULL		0.537	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	G	NM_002950		128341190	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	silent	SNP	1.000	C	C	128341190	G	C	128341190	2	2	160	1	0	0	0	0	0	0	0	1	13637	1277	45	1		1	RPN1	3	128341190	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	141061	128341190	69681240	512	28785										
RPN1	6184	genome.wustl.edu	37	chr3	128345602	128345602	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccttcaggcaggatgatcttCacagtcagagaatctatcac	8	11	6	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128345602C>T	ENST00000296255.3	-	6	1158	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	RPN1_ENST00000497289.1_Silent_p.V198V|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	370					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGATGATCTTCACAGTCAGAG	0.468			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													229	174	193					3																	128345602		2203	4300	6503	SO:0001819	synonymous_variant	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1110G>A	3.37:g.128345602C>T			B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	pfam_Ribophorin_I	p.V370	ENST00000296255.3	37	c.1110	CCDS3051.1	3																																																																																			RPN1	-	pfam_Ribophorin_I		0.468	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	C	NM_002950		128345602	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128345602	C	T	128345602	2	4	160	1	0	0	0	0	0	0	0	1	13637	813	29	1		1	RPN1	3	128345602	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4412	128345602	69676828	513	28786										
KIAA1257	57501	genome.wustl.edu	37	chr3	128696936	128696936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttttcttgttttcctggcgGatgttcctggttcgactctt	9	9	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128696936G>A	ENST00000265068.5	-	5	927	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.P254S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.P142S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	254										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTTCCTGGCGGATGTTCCTGG	0.438																																																	0													191	187	188					3																	128696936		1956	4151	6107	SO:0001583	missense	57501			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.760C>T	3.37:g.128696936G>A	ENSP00000265068:p.Pro254Ser		Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.P254S	ENST00000265068.5	37	c.760	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	G	6.849	0.525928	0.13066	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.23	1.35	0.21983	.	2.088450	0.02293	N	0.070461	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	B;B	0.29552	0.248;0.103	B;B	0.22386	0.039;0.039	T	0.26189	-1.0110	9	0.40728	T	0.16	0.2919	9.5758	0.39457	0.0:0.4952:0.5048:0.0	.	254;254	Q9ULG3;D6RH05	K1257_HUMAN;.	S	254;254;142	.	ENSP00000265068:P254S	P	-	1	0	KIAA1257	130179626	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.962000	0.00672	0.350000	0.24002	0.467000	0.42956	CCG	KIAA1257	-	NULL		0.438	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	G	NM_020741		128696936	-1	no_errors	ENST00000265068	ensembl	human	known	70_37	missense	SNP	0.000	A	A	128696936	G	A	128696936	3	1	160	1	0	0	0	0	1	0	0	0	8238	1174	41	1	485	1	KIAA1257	3	128696936	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	351334	128696936	69325494	514	28787										
ISY1	57461	genome.wustl.edu	37	chr3	128849028	128849028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccttcgcaccagtgcctcctCaatctgtggaaattaagagt	8	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128849028C>T	ENST00000393295.3	-	11	1071	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ISY1_ENST00000273541.8_Missense_Mutation_p.E274K|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E252K|ISY1_ENST00000393292.3_Silent_p.*253*|ISY1_ENST00000471497.1_5'UTR	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	252					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AGTGCCTCCTCAATCTGTGGA	0.562																																																	0													82	85	84					3																	128849028		1954	4155	6109	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.754G>A	3.37:g.128849028C>T	ENSP00000376973:p.Glu252Lys		Q96IL2|Q9BT05	Missense_Mutation	SNP	pfam_Isy1	p.E274K	ENST00000393295.3	37	c.820	CCDS43149.1	3	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047589	0.93740	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541	T	0.40476	1.03	5.42	5.42	0.78866	.	0.052357	0.85682	D	0.000000	T	0.66470	0.2792	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.997	D;D;D	0.72982	0.915;0.979;0.966	T	0.69764	-0.5057	10	0.54805	T	0.06	.	14.7113	0.69235	0.0:1.0:0.0:0.0	.	274;252;252	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	K	252;252;274	ENSP00000273541:E274K	ENSP00000273541:E274K	E	-	1	0	ISY1	130331718	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.473000	0.73572	2.554000	0.86153	0.484000	0.47621	GAG	ISY1	-	pfam_Isy1		0.562	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1	HGNC	protein_coding	OTTHUMT00000267856.1	C	NM_020701		128849028	-1	no_errors	ENST00000273541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128849028	C	T	128849028	3	4	160	1	0	0	0	0	1	0	0	0	7886	835	29	1	107	1	ISY1	3	128849028	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	152092	128849028	69173402	515	28788										
COPG	22820	genome.wustl.edu	37	chr3	128990687	128990687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgagcccgtggccctcaccGagtcagagacggagtatgtc	13	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:128990687G>A	ENST00000314797.6	+	19	2025	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	641	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GGCCCTCACCGAGTCAGAGAC	0.592																																																	0													77	63	67					3																	128990687		2203	4300	6503	SO:0001583	missense	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1921G>A	3.37:g.128990687G>A	ENSP00000325002:p.Glu641Lys		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.E641K	ENST00000314797.6	37	c.1921	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115514	0.77323	.	.	ENSG00000181789	ENST00000314797	T	0.48836	0.8	5.68	5.68	0.88126	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);	0.000000	0.64402	D	0.000002	T	0.58424	0.2121	M	0.92122	3.275	0.80722	D	1	B	0.33883	0.43	B	0.26517	0.07	T	0.67273	-0.5712	10	0.62326	D	0.03	-17.7237	17.2896	0.87152	0.0:0.0:1.0:0.0	.	641	Q9Y678	COPG_HUMAN	K	641	ENSP00000325002:E641K	ENSP00000325002:E641K	E	+	1	0	COPG	130473377	1.000000	0.71417	0.355000	0.25773	0.042000	0.13812	9.652000	0.98499	2.695000	0.91970	0.650000	0.86243	GAG	COPG1	-	pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu		0.592	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	G	NM_016128		128990687	1	no_errors	ENST00000314797	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128990687	G	A	128990687	3	1	160	1	0	0	0	0	1	0	0	0	3736	1059	37	1	1995	1	COPG	3	128990687	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	141659	128990687	69031743	516	28789										
DNAJC13	23317	genome.wustl.edu	37	chr3	132172997	132172997	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacggaaatattcttcaacaGagaggtattttttttttttt	6	4	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:132172997G>C	ENST00000260818.6	+	9	1176	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	310					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTCTTCAACAGAGAGGTATTT	0.318																																																	0													61	73	69					3																	132172997		2197	4278	6475	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.928G>C	3.37:g.132172997G>C	ENSP00000260818:p.Glu310Gln		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.E310Q	ENST00000260818.6	37	c.928	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730888	0.69074	.	.	ENSG00000138246	ENST00000260818	T	0.46819	0.86	5.58	5.58	0.84498	.	0.055787	0.64402	D	0.000001	T	0.50684	0.1630	M	0.65498	2.005	0.58432	D	0.999999	B;B	0.23806	0.091;0.008	B;B	0.24006	0.05;0.007	T	0.49173	-0.8967	10	0.52906	T	0.07	.	17.7574	0.88453	0.0:0.0:1.0:0.0	.	310;310	A7E2Y5;O75165	.;DJC13_HUMAN	Q	310	ENSP00000260818:E310Q	ENSP00000260818:E310Q	E	+	1	0	DNAJC13	133655687	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.862000	0.92283	2.622000	0.88805	0.650000	0.86243	GAG	DNAJC13	-	NULL		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	G	NM_015268		132172997	1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132172997	G	C	132172997	3	2	160	1	0	0	0	0	1	0	0	0	4642	943	33	1	958	1	DNAJC13	3	132172997	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3182310	132172997	65849433	517	28790										
TOPBP1	11073	genome.wustl.edu	37	chr3	133374143	133374143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacagttttaccttttggttCttgcacaatgaggtgtgtac	9	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:133374143C>T	ENST00000260810.5	-	6	864	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	245	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCTTTTGGTTCTTGCACAATG	0.308								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													148	131	137					3																	133374143		1846	4096	5942	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.733G>A	3.37:g.133374143C>T	ENSP00000260810:p.Glu245Lys		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E245K	ENST00000260810.5	37	c.733	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676404	0.88445	.	.	ENSG00000163781	ENST00000260810	T	0.57436	0.4	4.4	4.4	0.53042	BRCT (4);	0.111700	0.64402	D	0.000017	T	0.55529	0.1926	N	0.20610	0.595	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.50808	-0.8784	10	0.15952	T	0.53	.	17.3524	0.87327	0.0:1.0:0.0:0.0	.	245	Q92547	TOPB1_HUMAN	K	245	ENSP00000260810:E245K	ENSP00000260810:E245K	E	-	1	0	TOPBP1	134856833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.149000	0.67028	0.655000	0.94253	GAA	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.308	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	C	NM_007027		133374143	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133374143	C	T	133374143	3	4	160	1	0	0	0	0	1	0	0	0	16400	922	32	1	3927	1	TOPBP1	3	133374143	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1201146	133374143	64648287	518	28791										
AMOTL2	51421	genome.wustl.edu	37	chr3	134085242	134085242	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtcaggctctcatgggcctCagagagccgctggatttcgc	14	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:134085242C>T	ENST00000422605.2	-	4	1235	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	AMOTL2_ENST00000514516.1_Missense_Mutation_p.E415K|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E357K|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E357K			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	357					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCATGGGCCTCAGAGAGCCGC	0.567																																																	0													76	79	78					3																	134085242		2203	4300	6503	SO:0001583	missense	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1069G>A	3.37:g.134085242C>T	ENSP00000409999:p.Glu357Lys		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E357K	ENST00000422605.2	37	c.1069		3	.	.	.	.	.	.	.	.	.	.	C	34	5.361053	0.95877	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.77	4.77	0.60923	.	0.049475	0.85682	D	0.000000	T	0.44664	0.1304	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68765	0.96;0.96;0.913	T	0.28038	-1.0056	10	0.40728	T	0.16	-18.6796	17.9682	0.89105	0.0:1.0:0.0:0.0	.	357;357;415	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	K	357;357;415;357	ENSP00000249883:E357K;ENSP00000409999:E357K;ENSP00000424765:E415K;ENSP00000425475:E357K	ENSP00000249883:E357K	E	-	1	0	AMOTL2	135567932	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.651000	0.83577	2.480000	0.83734	0.462000	0.41574	GAG	AMOTL2	-	NULL		0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	C	NM_016201		134085242	-1	no_errors	ENST00000249883	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134085242	C	T	134085242	3	4	160	1	0	0	0	0	1	0	0	0	584	835	29	1	1301	1	AMOTL2	3	134085242	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	711099	134085242	63937188	519	28792										
CEP63	80254	genome.wustl.edu	37	chr3	134278115	134278115	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctagggtgctaagccccctGagtcctcaaatcagcccttg	9	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:134278115G>A	ENST00000337090.3	+	14	1970	c.1797G>A	c.(1795-1797)ctG>ctA	p.L599L	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Silent_p.L599L|CEP63_ENST00000606977.1_Silent_p.L599L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	599					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGCCCCCTGAGTCCTCAAA	0.453																																																	0													180	176	177					3																	134278115		2203	4300	6503	SO:0001819	synonymous_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1797G>A	3.37:g.134278115G>A			D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	NULL	p.L599	ENST00000337090.3	37	c.1797	CCDS3086.1	3																																																																																			CEP63	-	NULL		0.453	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	G	NM_025180		134278115	1	no_errors	ENST00000337090	ensembl	human	known	70_37	silent	SNP	0.303	A	A	134278115	G	A	134278115	2	1	160	1	0	0	0	0	0	0	0	1	3262	1277	45	1		1	CEP63	3	134278115	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	192873	134278115	63744315	520	28793										
MSL2	55167	genome.wustl.edu	37	chr3	135870318	135870318	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtaagaacacttggattttGagtagcacgcccacatttac	8	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:135870318G>C	ENST00000309993.2	-	2	2137	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E	MSL2_ENST00000434835.2_Missense_Mutation_p.Q395E	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	469					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTTGGATTTTGAGTAGCACGC	0.458																																																	0													70	70	70					3																	135870318		2203	4300	6503	SO:0001583	missense	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1405C>G	3.37:g.135870318G>C	ENSP00000311827:p.Gln469Glu		B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	pfscan_Znf_RING	p.Q469E	ENST00000309993.2	37	c.1405	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282844	0.59867	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.68317	2.08	0.80722	D	1	P	0.51933	0.949	P	0.61397	0.888	T	0.76002	-0.3118	9	0.51188	T	0.08	-4.6594	19.1813	0.93625	0.0:0.0:1.0:0.0	.	469	Q9HCI7	MSL2_HUMAN	E	469;395	.	ENSP00000311827:Q469E	Q	-	1	0	MSL2	137353008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.771000	0.95319	0.563000	0.77884	CAA	MSL2	-	NULL		0.458	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	G	NM_018133		135870318	-1	no_errors	ENST00000309993	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135870318	G	C	135870318	3	2	160	1	0	0	0	0	1	0	0	0	9901	1299	45	1	332	1	MSL2	3	135870318	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1592203	135870318	62152112	521	28794										
STAG1	10274	genome.wustl.edu	37	chr3	136323236	136323236	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttgagggtgtccattagctCttccacggcctgctcctcta	10	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:136323236C>G	ENST00000383202.2	-	4	468	c.212G>C	c.(211-213)aGa>aCa	p.R71T	STAG1_ENST00000236698.5_Missense_Mutation_p.R71T|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.R71T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	71					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCCATTAGCTCTTCCACGGCC	0.418																																																	0													129	123	125					3																	136323236		2203	4300	6503	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.212G>C	3.37:g.136323236C>G	ENSP00000372689:p.Arg71Thr		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R71T	ENST00000383202.2	37	c.212	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798467	0.50208	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T	0.25414	1.8;1.81	5.69	4.82	0.62117	.	0.212160	0.48767	D	0.000174	T	0.24470	0.0593	L	0.48877	1.53	0.80722	D	1	B;B;B	0.23735	0.09;0.039;0.001	B;B;B	0.19391	0.023;0.025;0.022	T	0.02533	-1.1145	10	0.33141	T	0.24	.	14.3253	0.66515	0.0:0.9281:0.0:0.0719	.	71;71;71	C9JJQ0;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	T	71	ENSP00000372689:R71T;ENSP00000236698:R71T	ENSP00000236698:R71T	R	-	2	0	STAG1	137805926	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.125000	0.57931	1.401000	0.46761	0.655000	0.94253	AGA	STAG1	-	NULL		0.418	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	C	NM_005862		136323236	-1	no_errors	ENST00000383202	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136323236	C	G	136323236	3	3	160	1	0	0	0	0	1	0	0	0	15272	913	32	1	3688	1	STAG1	3	136323236	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	452918	136323236	61699194	522	28795										
MRAS	22808	genome.wustl.edu	37	chr3	138119446	138119446	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agccttccatgacctcgttaGagtaattaggtgagcactgc	10	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138119446G>C	ENST00000289104.4	+	5	1165	c.518G>C	c.(517-519)aGa>aCa	p.R173T	MRAS_ENST00000464896.1_Missense_Mutation_p.R97T|MRAS_ENST00000423968.2_Missense_Mutation_p.R173T|MRAS_ENST00000474559.1_Missense_Mutation_p.R173T	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	173					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GACCTCGTTAGAGTAATTAGG	0.532																																																	0													204	176	185					3																	138119446		2203	4300	6503	SO:0001583	missense	22808			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.518G>C	3.37:g.138119446G>C	ENSP00000289104:p.Arg173Thr		B4DIK0|Q86WX8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R173T	ENST00000289104.4	37	c.518	CCDS3100.1	3	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637806	0.67130	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.88789	0.3276	10	0.87932	D	0	.	16.5954	0.84795	0.0:0.0:1.0:0.0	.	173	O14807	RASM_HUMAN	T	173;173;97;97;173	ENSP00000289104:R173T;ENSP00000389682:R173T;ENSP00000417685:R97T;ENSP00000419582:R97T;ENSP00000418356:R173T	ENSP00000289104:R173T	R	+	2	0	MRAS	139602136	1.000000	0.71417	0.472000	0.27241	0.244000	0.25665	9.583000	0.98217	2.509000	0.84616	0.561000	0.74099	AGA	MRAS	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase		0.532	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	G			138119446	1	no_errors	ENST00000289104	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138119446	G	C	138119446	3	2	160	1	0	0	0	0	1	0	0	0	9778	942	33	1	532	1	MRAS	3	138119446	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1796210	138119446	59902984	523	28796										
CEP70	80321	genome.wustl.edu	37	chr3	138248112	138248112	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcttagattttgattccttGagttgattctgtaatgactg	8	5	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138248112G>C	ENST00000264982.3	-	10	1064	c.798C>G	c.(796-798)ctC>ctG	p.L266L	CEP70_ENST00000484888.1_Silent_p.L266L|CEP70_ENST00000478673.1_5'Flank|CEP70_ENST00000481834.1_Silent_p.L266L|CEP70_ENST00000489254.1_Silent_p.L114L|CEP70_ENST00000542237.1_Silent_p.L246L	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	266					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTGATTCCTTGAGTTGATTCT	0.284																																																	0													79	79	79					3																	138248112		2203	4300	6503	SO:0001819	synonymous_variant	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.798C>G	3.37:g.138248112G>C			B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L266	ENST00000264982.3	37	c.798	CCDS3102.1	3																																																																																			CEP70	-	NULL		0.284	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	G	NM_024491		138248112	-1	no_errors	ENST00000264982	ensembl	human	known	70_37	silent	SNP	0.076	C	C	138248112	G	C	138248112	2	2	160	1	0	0	0	0	0	0	0	1	3264	1277	45	1		1	CEP70	3	138248112	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	128666	138248112	59774318	524	28797										
FAIM	55179	genome.wustl.edu	37	chr3	138329875	138329875	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatctccggactctgccactCtgaggttagtgccctgccca	9	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138329875C>G	ENST00000393035.2	+	1	87				FAIM_ENST00000393034.2_Intron|FAIM_ENST00000360570.3_Intron|FAIM_ENST00000338446.4_Missense_Mutation_p.L26V	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						CTCTGCCACTCTGAGGTTagt	0.428																																																	0													180	174	176					3																	138329875		2203	4300	6503	SO:0001627	intron_variant	55179			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.-23+2096C>G	3.37:g.138329875C>G			Q6IAN2	Missense_Mutation	SNP	pfam_FAIM	p.L26V	ENST00000393035.2	37	c.76	CCDS3103.1	3	.	.	.	.	.	.	.	.	.	.	C	6.600	0.479008	0.12581	.	.	ENSG00000158234	ENST00000338446	T	0.33654	1.4	2.25	0.395	0.16304	.	12.555400	0.00597	U	0.000379	T	0.23171	0.0560	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.17979	0.02	T	0.10086	-1.0645	9	0.27785	T	0.31	0.2049	4.2556	0.10715	0.0:0.6397:0.0:0.3603	.	26	Q9NVQ4-2	.	V	26	ENSP00000342805:L26V	ENSP00000342805:L26V	L	+	1	2	FAIM	139812565	0.003000	0.15002	0.010000	0.14722	0.269000	0.26545	-0.604000	0.05667	0.091000	0.17302	0.298000	0.19748	CTG	FAIM	-	NULL		0.428	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	C	NM_001033032		138329875	1	no_errors	ENST00000338446	ensembl	human	known	70_37	missense	SNP	0.012	G	G	138329875	C	G	138329875	1	3	160	0	1	0	0	0	0	0	0	0	5390	912	32	1		1	FAIM	3	138329875	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	81763	138329875	59692555	525	28798										
FOXL2	668	genome.wustl.edu	37	chr3	138665213	138665213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttgcgctcgccgccgccctCgcgcggcaccttgatgaagc	12	18	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:138665213C>T	ENST00000330315.3	-	1	769	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	118					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CCGCCGCCCTCGCGCGGCACC	0.612			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"																																	Dom	yes		3	3q23	668	forkhead box L2	yes	O	0			GRCh37	CM082718	FOXL2	M							47	48	48					3																	138665213		2203	4300	6503	SO:0001583	missense	668			AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"Forkhead boxes"	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.352G>A	3.37:g.138665213C>T	ENSP00000333188:p.Glu118Lys		Q4ZGJ3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E118K	ENST00000330315.3	37	c.352	CCDS3105.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.083596	0.94050	.	.	ENSG00000183770	ENST00000330315;ENST00000542203	D	0.95412	-3.7	4.07	4.07	0.47477	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.95978	0.8690	L	0.39467	1.215	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	D	0.96857	0.9629	10	0.87932	D	0	.	16.6195	0.84926	0.0:1.0:0.0:0.0	.	118	P58012	FOXL2_HUMAN	K	118	ENSP00000333188:E118K	ENSP00000333188:E118K	E	-	1	0	FOXL2	140147903	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.254000	0.78329	1.970000	0.57323	0.505000	0.49811	GAG	FOXL2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.612	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL2	HGNC	protein_coding	OTTHUMT00000357999.1	C			138665213	-1	no_errors	ENST00000330315	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138665213	C	T	138665213	3	4	160	1	0	0	0	0	1	0	0	0	6035	893	31	1	782	1	FOXL2	3	138665213	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	335338	138665213	59357217	526	28799										
SLC25A36	55186	genome.wustl.edu	37	chr3	140692697	140692697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttatccattttgttatttatGaaagtataaaacaaaaacta	3	4	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:140692697G>C	ENST00000324194.6	+	6	760	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E198Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E172Q			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	198					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TGTTATTTATGAAAGTATAAA	0.343																																																	0													58	60	59					3																	140692697		2203	4300	6503	SO:0001583	missense	55186			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.592G>C	3.37:g.140692697G>C	ENSP00000320688:p.Glu198Gln		A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.E198Q	ENST00000324194.6	37	c.592	CCDS46927.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322393	0.81580	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	D;D;D	0.83591	-1.74;-1.74;-1.74	6.01	5.13	0.70059	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	D	0.94402	0.7624	10	0.87932	D	0	-14.8595	14.5298	0.67917	0.0:0.0:0.8525:0.1475	.	172;198;198	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	Q	198;198;172	ENSP00000401938:E198Q;ENSP00000320688:E198Q;ENSP00000391521:E172Q	ENSP00000320688:E198Q	E	+	1	0	SLC25A36	142175387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.546000	0.49388	-0.175000	0.13238	GAA	SLC25A36	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling		0.343	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	G	NM_018155		140692697	1	no_errors	ENST00000324194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140692697	G	C	140692697	3	2	160	1	0	0	0	0	1	0	0	0	14530	1291	45	1	614	1	SLC25A36	3	140692697	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2027484	140692697	57329733	527	28800										
RASA2	5922	genome.wustl.edu	37	chr3	141292835	141292835	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attcaatacaattgtaaaatCaagtatgagctgccccactg	6	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:141292835C>G	ENST00000452898.1	+	14	1444	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.S470*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	470	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATTGTAAAATCAAGTATGAGC	0.348																																																	0													90	88	88					3																	141292835		2203	4297	6500	SO:0001587	stop_gained	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1409C>G	3.37:g.141292835C>G	ENSP00000391677:p.Ser470*		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.S470*	ENST00000452898.1	37	c.1409		3	.	.	.	.	.	.	.	.	.	.	C	38	6.792200	0.97841	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7554	0.96287	0.0:1.0:0.0:0.0	.	.	.	.	X	470;470;62	.	ENSP00000286364:S470X	S	+	2	0	RASA2	142775525	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.487000	0.81328	2.665000	0.90641	0.563000	0.77884	TCA	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.348	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		C	NM_006506		141292835	1	no_errors	ENST00000452898	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	141292835	C	G	141292835	4	3	160	1	0	0	0	0	0	1	0	0	13091	838	29	1	1463	1	RASA2	3	141292835	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	600138	141292835	56729595	528	28801										
GRK7	131890	genome.wustl.edu	37	chr3	141535812	141535812	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttatagaaacgggactgtttGaggaactgaatgaccccaac	10	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:141535812G>A	ENST00000264952.2	+	4	1719	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	528					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGACTGTTTGAGGAACTGAA	0.428																																																	0													154	149	150					3																	141535812		2203	4300	6503	SO:0001583	missense	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1582G>A	3.37:g.141535812G>A	ENSP00000264952:p.Glu528Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E528K	ENST00000264952.2	37	c.1582	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056384	0.19907	.	.	ENSG00000114124	ENST00000264952	T	0.60040	0.22	5.14	4.27	0.50696	AGC-kinase, C-terminal (1);	0.118100	0.56097	D	0.000022	T	0.39600	0.1084	N	0.26162	0.8	0.41471	D	0.988104	B	0.09022	0.002	B	0.04013	0.001	T	0.28459	-1.0043	10	0.02654	T	1	-11.3395	13.6065	0.62050	0.0751:0.0:0.9249:0.0	.	528	Q8WTQ7	GRK7_HUMAN	K	528	ENSP00000264952:E528K	ENSP00000264952:E528K	E	+	1	0	GRK7	143018502	1.000000	0.71417	0.573000	0.28510	0.973000	0.67179	7.889000	0.87307	1.171000	0.42768	0.591000	0.81541	GAG	GRK7	-	smart_AGC-kinase_C		0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	G	NM_139209		141535812	1	no_errors	ENST00000264952	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141535812	G	A	141535812	3	1	160	1	0	0	0	0	1	0	0	0	6814	1291	45	1	1596	1	GRK7	3	141535812	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	242977	141535812	56486618	529	28802										
GK5	256356	genome.wustl.edu	37	chr3	141905084	141905084	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagtggtatcgaaattagaGaggtaatcatcccactccaa	8	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:141905084G>A	ENST00000392993.2	-	8	858	c.707C>T	c.(706-708)tCt>tTt	p.S236F	GK5_ENST00000544571.1_Missense_Mutation_p.S236F	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	236					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CGAAATTAGAGAGGTAATCAT	0.343																																																	0													124	120	121					3																	141905084		2203	4300	6503	SO:0001583	missense	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.707C>T	3.37:g.141905084G>A	ENSP00000418001:p.Ser236Phe		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.S236F	ENST00000392993.2	37	c.707	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	G	0.288	-0.981827	0.02197	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.59638	0.25;0.25	4.83	2.89	0.33648	Carbohydrate kinase, FGGY, N-terminal (1);	0.337440	0.35378	N	0.003251	T	0.54481	0.1861	M	0.79926	2.475	0.35384	D	0.79019	B	0.13145	0.007	B	0.18263	0.021	T	0.62604	-0.6819	10	0.87932	D	0	-4.6465	4.8759	0.13656	0.0867:0.146:0.6177:0.1496	.	236	Q6ZS86	GLPK5_HUMAN	F	236	ENSP00000418001:S236F;ENSP00000440860:S236F	ENSP00000418001:S236F	S	-	2	0	GK5	143387774	0.997000	0.39634	0.361000	0.25849	0.069000	0.16628	1.992000	0.40737	1.153000	0.42468	0.655000	0.94253	TCT	GK5	-	pfam_Carb_kinase_FGGY_N		0.343	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	G	NM_001039547		141905084	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	missense	SNP	0.978	A	A	141905084	G	A	141905084	3	1	160	1	0	0	0	0	1	0	0	0	6441	942	33	1	918	1	GK5	3	141905084	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	369272	141905084	56117346	530	28803										
ATR	545	genome.wustl.edu	37	chr3	142189021	142189021	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaactgatttccatattgtaGagatctgcaattatatagac	7	6	1	3	rs372864251		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142189021G>C	ENST00000350721.4	-	37	6347	c.6226C>G	c.(6226-6228)Cta>Gta	p.L2076V	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.L2012V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2076	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCATATTGTAGAGATCTGCAA	0.303								Other conserved DNA damage response genes																																									0								G	VAL/LEU	0,4400		0,0,2200	97	87	91		6226	1.2	1	3		91	1,8597	1.2+/-3.3	0,1,4298	no	missense	ATR	NM_001184.3	32	0,1,6498	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	2076/2645	142189021	1,12997	2200	4299	6499	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6226C>G	3.37:g.142189021G>C	ENSP00000343741:p.Leu2076Val		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.L2076V	ENST00000350721.4	37	c.6226	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094890	0.56075	0.0	1.16E-4	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.72051	-0.62;-0.62	5.34	1.16	0.20824	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.077615	0.52532	D	0.000074	T	0.77082	0.4078	M	0.76727	2.345	0.58432	D	0.999999	D	0.58620	0.983	P	0.58077	0.832	T	0.74331	-0.3700	10	0.49607	T	0.09	-2.686	9.3603	0.38192	0.4707:0.0:0.5293:0.0	.	2076	Q13535	ATR_HUMAN	V	2076;2012	ENSP00000343741:L2076V;ENSP00000372581:L2012V	ENSP00000343741:L2076V	L	-	1	2	ATR	143671711	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	1.677000	0.37576	-0.015000	0.14150	0.585000	0.79938	CTA	ATR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.303	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	G	NM_001184		142189021	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	0.995	C	C	142189021	G	C	142189021	3	2	160	1	0	0	0	0	1	0	0	0	1205	933	33	1	1752	1	ATR	3	142189021	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	283937	142189021	55833409	531	28804										
PCOLCE2	26577	genome.wustl.edu	37	chr3	142561848	142561848	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccagttgggggttttaaaaGagccggaaggtctgtcaagg	16	6	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142561848G>A	ENST00000295992.3	-	4	797	c.491C>T	c.(490-492)tCt>tTt	p.S164F	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S164F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	164	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.S164Y(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTTTTAAAAGAGCCGGAAGG	0.468																																																	1	Substitution - Missense(1)	ovary(1)											81	84	83					3																	142561848		2203	4300	6503	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.491C>T	3.37:g.142561848G>A	ENSP00000295992:p.Ser164Phe		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.S164F	ENST00000295992.3	37	c.491	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299053	0.23650	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.28454	1.61;1.61	5.22	4.32	0.51571	CUB (5);	0.274051	0.42420	N	0.000709	T	0.33381	0.0861	L	0.52266	1.64	0.38163	D	0.939086	B	0.18863	0.031	B	0.27262	0.078	T	0.32693	-0.9897	10	0.72032	D	0.01	-24.3321	15.6884	0.77430	0.0:0.1374:0.8626:0.0	.	164	Q9UKZ9	PCOC2_HUMAN	F	164	ENSP00000295992:S164F;ENSP00000419842:S164F	ENSP00000295992:S164F	S	-	2	0	PCOLCE2	144044538	1.000000	0.71417	0.990000	0.47175	0.072000	0.16883	7.360000	0.79487	1.389000	0.46526	0.555000	0.69702	TCT	PCOLCE2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.468	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	G	NM_013363		142561848	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142561848	G	A	142561848	3	1	160	1	0	0	0	0	1	0	0	0	11619	942	33	1	780	1	PCOLCE2	3	142561848	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	372827	142561848	55460582	532	28805										
PAQR9	344838	genome.wustl.edu	37	chr3	142681903	142681903	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcaggaacagcagcagcggGatgaagtgcgtccagaagtt	14	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142681903G>A	ENST00000340634.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	92						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCAGCAGCGGGATGAAGTGCG	0.637																																																	0													107	109	108					3																	142681903		2203	4300	6503	SO:0001819	synonymous_variant	344838			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.276C>T	3.37:g.142681903G>A			Q147T6	Silent	SNP	pfam_HlyIII-related	p.I92	ENST00000340634.3	37	c.276	CCDS3128.1	3																																																																																			PAQR9	-	pfam_HlyIII-related		0.637	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	G	NM_198504		142681903	-1	no_errors	ENST00000340634	ensembl	human	known	70_37	silent	SNP	1.000	A	A	142681903	G	A	142681903	2	1	160	1	0	0	0	0	0	0	0	1	11466	1164	41	1		1	PAQR9	3	142681903	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	120055	142681903	55340527	533	28806										
PAQR9	344838	genome.wustl.edu	37	chr3	142681918	142681918	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcgggatgaagtgcgtccaGaagttgagcgtctcgttggt	16	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:142681918G>A	ENST00000340634.3	-	1	260	c.261C>T	c.(259-261)ttC>ttT	p.F87F	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	87						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGTGCGTCCAGAAGTTGAGCG	0.632																																																	0													99	100	100					3																	142681918		2203	4300	6503	SO:0001819	synonymous_variant	344838			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.261C>T	3.37:g.142681918G>A			Q147T6	Silent	SNP	pfam_HlyIII-related	p.F87	ENST00000340634.3	37	c.261	CCDS3128.1	3																																																																																			PAQR9	-	pfam_HlyIII-related		0.632	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	G	NM_198504		142681918	-1	no_errors	ENST00000340634	ensembl	human	known	70_37	silent	SNP	1.000	A	A	142681918	G	A	142681918	2	1	160	1	0	0	0	0	0	0	0	1	11466	933	33	1		1	PAQR9	3	142681918	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	15	142681918	55340512	534	28807										
SLC9A9	285195	genome.wustl.edu	37	chr3	143515691	143515691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctttagactatatcctgcatGaaatataattggtggcagta	8	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:143515691G>C	ENST00000316549.6	-	3	641	c.433C>G	c.(433-435)Cat>Gat	p.H145D		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	145					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TATCCTGCATGAAATATAATT	0.313																																																	0													50	56	54					3																	143515691		2203	4296	6499	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.433C>G	3.37:g.143515691G>C	ENSP00000320246:p.His145Asp		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.H145D	ENST00000316549.6	37	c.433	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327914	0.81690	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.21031	2.03	5.45	5.45	0.79879	Cation/H+ exchanger (1);	0.163924	0.42420	D	0.000720	T	0.27866	0.0686	N	0.17474	0.49	0.53005	D	0.99996	D	0.62365	0.991	D	0.78314	0.991	T	0.02179	-1.1200	10	0.06365	T	0.9	.	18.0489	0.89341	0.0:0.0:1.0:0.0	.	145	Q8IVB4	SL9A9_HUMAN	D	145;28	ENSP00000320246:H145D	ENSP00000320246:H145D	H	-	1	0	SLC9A9	144998381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.293000	0.72731	2.553000	0.86117	0.637000	0.83480	CAT	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.313	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	G	NM_173653		143515691	-1	no_errors	ENST00000316549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	143515691	G	C	143515691	3	2	160	1	0	0	0	0	1	0	0	0	14751	1290	45	1	1560	1	SLC9A9	3	143515691	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	833773	143515691	54506739	535	28808										
C3orf58	205428	genome.wustl.edu	37	chr3	143691757	143691757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actcgggcagcttcctgcttCgcaacctcaaggactcggag	11	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:143691757C>T	ENST00000315691.3	+	1	1118	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	195					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTCCTGCTTCGCAACCTCAA	0.697																																																	0													10	10	10					3																	143691757		2172	4243	6415	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.583C>T	3.37:g.143691757C>T	ENSP00000320081:p.Arg195Cys		B2RCF2|B7Z1W3	Missense_Mutation	SNP	NULL	p.R195C	ENST00000315691.3	37	c.583	CCDS3130.1	3	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850062	0.71603	.	.	ENSG00000181744	ENST00000315691	T	0.33865	1.39	3.41	3.41	0.39046	.	0.062767	0.64402	U	0.000019	T	0.29256	0.0728	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.47744	0.556	T	0.09357	-1.0678	10	0.66056	D	0.02	.	10.4481	0.44505	0.1947:0.8053:0.0:0.0	.	195	Q8NDZ4	CC058_HUMAN	C	195	ENSP00000320081:R195C	ENSP00000320081:R195C	R	+	1	0	C3orf58	145174447	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	5.439000	0.66556	1.752000	0.51891	0.561000	0.74099	CGC	C3orf58	-	NULL		0.697	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf58	HGNC	protein_coding	OTTHUMT00000355038.1	C	NM_173552		143691757	1	no_errors	ENST00000315691	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143691757	C	T	143691757	3	4	160	1	0	0	0	0	1	0	0	0	2241	884	31	1	585	1	C3orf58	3	143691757	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	176066	143691757	54330673	536	28809										
HLTF	6596	genome.wustl.edu	37	chr3	148778607	148778607	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacttgtttcaatttcctctGaatcactgctttctatgtac	4	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:148778607G>C	ENST00000310053.5	-	11	1392	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	HLTF_ENST00000392912.2_Nonsense_Mutation_p.S400*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.S400*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.S400*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	400					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)			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)			AATTTCCTCTGAATCACTGCT	0.318																																																	0													93	88	90					3																	148778607		2201	4295	6496	SO:0001587	stop_gained	6596			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.1199C>G	3.37:g.148778607G>C	ENSP00000308944:p.Ser400*		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	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.S400*	ENST00000310053.5	37	c.1199	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.643947	0.98897	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.2661	16.1526	0.81632	0.0:0.0:1.0:0.0	.	.	.	.	X	400;400;400;400;397	.	ENSP00000308944:S400X	S	-	2	0	HLTF	150261297	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.024000	0.64090	2.890000	0.99128	0.585000	0.79938	TCA	HLTF	-	smart_Helicase_ATP-bd		0.318	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	G			148778607	-1	no_errors	ENST00000310053	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	148778607	G	C	148778607	4	2	160	1	0	0	0	0	0	1	0	0	7235	1294	45	1	1890	1	HLTF	3	148778607	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5086850	148778607	49243823	537	28810										
CLRN1	7401	genome.wustl.edu	37	chr3	150690496	150690496	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcttctgttggcttggcatGatgagaaacggcttctgtga	12	7	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:150690496G>A	ENST00000327047.1	-	0	290				CLRN1_ENST00000328863.4_5'Flank|CLRN1-AS1_ENST00000465576.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1						actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGCTTGGCATGATGAGAAACG	0.488																																																	0													66	63	64					3																	150690496		2203	4300	6503	SO:0001623	5_prime_UTR_variant	116933			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.-1C>T	3.37:g.150690496G>A			D3DNJ3|E1ACU9|Q8N6A9	RNA	SNP	-	NULL	ENST00000327047.1	37	NULL	CCDS3153.1	3																																																																																			CLRN1-AS1	-	-		0.488	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1-AS1	HGNC	protein_coding	OTTHUMT00000277060.1	G			150690496	1	no_errors	ENST00000465576	ensembl	human	known	70_37	rna	SNP	0.998	A	A	150690496	G	A	150690496	1	1	160	0	1	0	0	0	0	0	0	0	3562	1305	45	1		1	CLRN1	3	150690496	5'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1911889	150690496	47331934	538	28811										
IGSF10	285313	genome.wustl.edu	37	chr3	151164886	151164886	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgattgtgcctgggttcactCacttctcttacagatgtctg	9	10	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:151164886C>G	ENST00000282466.3	-	4	2882	c.2883G>C	c.(2881-2883)gtG>gtC	p.V961V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	961					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGTTCACTCACTTCTCTTA	0.403																																																	0													175	169	171					3																	151164886		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2883G>C	3.37:g.151164886C>G			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V961	ENST00000282466.3	37	c.2883	CCDS3160.1	3																																																																																			IGSF10	-	NULL		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151164886	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	silent	SNP	0.000	G	G	151164886	C	G	151164886	2	3	160	1	0	0	0	0	0	0	0	1	7617	813	29	1		1	IGSF10	3	151164886	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	474390	151164886	46857544	539	28812										
DHX36	170506	genome.wustl.edu	37	chr3	154024010	154024010	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgaacatttcttacctctgGagacgaatttgatatccagt	8	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:154024010G>T	ENST00000496811.1	-	6	968	c.888C>A	c.(886-888)ctC>ctA	p.L296L	DHX36_ENST00000544526.1_Silent_p.L296L|DHX36_ENST00000308361.6_Silent_p.L296L|DHX36_ENST00000329463.5_Silent_p.L296L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	296	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTACCTCTGGAGACGAATTT	0.358																																																	0													90	93	92					3																	154024010		2203	4300	6503	SO:0001819	synonymous_variant	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.888C>A	3.37:g.154024010G>T			B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L296	ENST00000496811.1	37	c.888	CCDS3171.1	3																																																																																			DHX36	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.358	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	G	NM_020865		154024010	-1	no_errors	ENST00000496811	ensembl	human	known	70_37	silent	SNP	0.772	T	T	154024010	G	T	154024010	2	4	160	1	0	0	0	0	0	0	0	1	4519	1161	41	3		3	DHX36	3	154024010	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2859124	154024010	43998420	540	28813										
GPR149	344758	genome.wustl.edu	37	chr3	154147176	154147176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggacgctcatgagatcatCcacagaccaggaagccacaa	9	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:154147176C>T	ENST00000389740.2	-	1	328	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	77					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATGAGATCATCCACAGACCAG	0.493																																																	0													89	93	92					3																	154147176		2045	4204	6249	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.229G>A	3.37:g.154147176C>T	ENSP00000374390:p.Asp77Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D77N	ENST00000389740.2	37	c.229	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.202959	0.94997	.	.	ENSG00000174948	ENST00000389740	T	0.71698	-0.59	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83273	-0.0042	10	0.72032	D	0.01	-20.7721	20.2985	0.98592	0.0:1.0:0.0:0.0	.	77	Q86SP6	GP149_HUMAN	N	77	ENSP00000374390:D77N	ENSP00000374390:D77N	D	-	1	0	GPR149	155629870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.141000	0.77330	2.793000	0.96121	0.655000	0.94253	GAT	GPR149	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	C	XM_293580		154147176	-1	no_errors	ENST00000389740	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154147176	C	T	154147176	3	4	160	1	0	0	0	0	1	0	0	0	6673	855	30	1	1982	1	GPR149	3	154147176	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	123166	154147176	43875254	541	28814										
PLCH1	23007	genome.wustl.edu	37	chr3	155203943	155203943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgagaaactacctttgtaGctcctagaaagtgcaatata	8	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:155203943G>C	ENST00000340059.7	-	21	2635	c.2636C>G	c.(2635-2637)gCt>gGt	p.A879G	PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Intron|PLCH1_ENST00000447496.2_Missense_Mutation_p.A879G|PLCH1_ENST00000414191.1_Intron|PLCH1_ENST00000334686.6_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	879					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCTTTGTAGCTCCTAGAAA	0.393																																																	0													159	154	155					3																	155203943		692	1591	2283	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2636C>G	3.37:g.155203943G>C	ENSP00000345988:p.Ala879Gly		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A879G	ENST00000340059.7	37	c.2636	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245996	0.80024	.	.	ENSG00000114805	ENST00000447496;ENST00000340059	T;T	0.34072	1.38;1.68	5.38	5.38	0.77491	.	0.229535	0.44902	D	0.000406	T	0.40272	0.1110	M	0.62723	1.935	0.80722	D	1	P;P	0.45957	0.856;0.869	B;B	0.41988	0.254;0.372	T	0.21518	-1.0243	10	0.21540	T	0.41	.	19.1149	0.93334	0.0:0.0:1.0:0.0	.	879;879	Q4KWH8;Q4KWH8-3	PLCH1_HUMAN;.	G	879	ENSP00000402759:A879G;ENSP00000345988:A879G	ENSP00000345988:A879G	A	-	2	0	PLCH1	156686637	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.233000	0.95337	2.513000	0.84729	0.491000	0.48974	GCT	PLCH1	-	NULL		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155203943	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155203943	G	C	155203943	3	2	160	1	0	0	0	0	1	0	0	0	12061	971	34	4	2472	4	PLCH1	3	155203943	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1056767	155203943	42818487	542	28815										
KCNAB1	7881	genome.wustl.edu	37	chr3	156175293	156175293	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagtggtgttaacctctttGatactgccgaagtctatgct	9	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:156175293G>C	ENST00000490337.1	+	4	473	c.409G>C	c.(409-411)Gat>Cat	p.D137H	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.D126H|KCNAB1_ENST00000302490.8_Missense_Mutation_p.D119H|KCNAB1_ENST00000389636.5_Missense_Mutation_p.D137H|KCNAB1_ENST00000389634.5_Missense_Mutation_p.D119H	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	137					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAACCTCTTTGATACTGCCGA	0.463																																																	0													249	216	227					3																	156175293		2203	4300	6503	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.409G>C	3.37:g.156175293G>C	ENSP00000419952:p.Asp137His		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.D137H	ENST00000490337.1	37	c.409	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401415	0.83120	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.48	5.48	0.80851	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D	0.76494	0.97;0.984;0.999;0.998;0.997	D;P;D;D;D	0.87578	0.957;0.875;0.998;0.996;0.991	D	0.93002	0.6424	10	0.87932	D	0	-18.8225	14.8543	0.70323	0.0:0.0:1.0:0.0	.	137;119;119;126;137	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	H	55;137;137;126;80;119;119	ENSP00000420755:D55H;ENSP00000419952:D137H;ENSP00000374287:D137H;ENSP00000418956:D126H;ENSP00000420221:D80H;ENSP00000305858:D119H;ENSP00000374285:D119H	ENSP00000305858:D119H	D	+	1	0	KCNAB1	157657987	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.919000	0.87513	2.554000	0.86153	0.655000	0.94253	GAT	KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.463	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	G	NM_003471		156175293	1	no_errors	ENST00000490337	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156175293	G	C	156175293	3	2	160	1	0	0	0	0	1	0	0	0	8029	1290	45	1	894	1	KCNAB1	3	156175293	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	971350	156175293	41847137	543	28816										
SMC4	10051	genome.wustl.edu	37	chr3	160146645	160146645	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataaactcaaggcccaacaaGacaaacttgataaaataaat	4	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:160146645G>A	ENST00000357388.3	+	18	3161	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.D904N|SMC4_ENST00000344722.5_Missense_Mutation_p.D904N|SMC4_ENST00000462787.1_Missense_Mutation_p.D904N|SMC4_ENST00000469762.1_Missense_Mutation_p.D879N	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	904					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D904H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCCAACAAGACAAACTTGA	0.378																																																	1	Substitution - Missense(1)	urinary_tract(1)											127	120	122					3																	160146645		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2710G>A	3.37:g.160146645G>A	ENSP00000349961:p.Asp904Asn		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.D904N	ENST00000357388.3	37	c.2710	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.521987	0.64747	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78126	-1.15;-1.15;-0.83;-1.15;-1.15	6.07	5.19	0.71726	RecF/RecN/SMC (1);	0.039653	0.85682	N	0.000000	T	0.72391	0.3454	L	0.45581	1.43	0.58432	D	0.999999	B;B;B;B	0.19331	0.016;0.0;0.035;0.002	B;B;B;B	0.24269	0.052;0.002;0.045;0.016	T	0.67185	-0.5734	10	0.30078	T	0.28	-19.3703	14.498	0.67702	0.0709:0.0:0.9291:0.0	.	904;879;879;904	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	N	904;904;879;904;904;498	ENSP00000349961:D904N;ENSP00000353225:D904N;ENSP00000417964:D879N;ENSP00000420734:D904N;ENSP00000341382:D904N	ENSP00000341382:D904N	D	+	1	0	SMC4	161629339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.782000	0.85680	1.549000	0.49425	0.655000	0.94253	GAC	SMC4	-	pfam_RecF/RecN/SMC,superfamily_Prefoldin		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160146645	1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160146645	G	A	160146645	3	1	160	1	0	0	0	0	1	0	0	0	14815	942	33	1	2776	1	SMC4	3	160146645	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3971352	160146645	37875785	544	28817										
SERPINI1	5274	genome.wustl.edu	37	chr3	167512530	167512530	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaagttcctcttgctactCtggagccattagtcaaagca	9	10	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:167512530C>G	ENST00000295777.5	+	5	1230	c.799C>G	c.(799-801)Ctg>Gtg	p.L267V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.L267V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	267					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L267L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTTGCTACTCTGGAGCCATT	0.453																																																	1	Substitution - coding silent(1)	endometrium(1)											114	114	114					3																	167512530		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.799C>G	3.37:g.167512530C>G	ENSP00000295777:p.Leu267Val		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L267V	ENST00000295777.5	37	c.799	CCDS3203.1	3	.	.	.	.	.	.	.	.	.	.	C	5.043	0.193662	0.09599	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979	D;D	0.85556	-2.0;-2.0	5.68	3.88	0.44766	Serpin domain (3);	0.071928	0.56097	D	0.000026	T	0.76997	0.4066	L	0.35341	1.055	0.46631	D	0.999134	B	0.19073	0.033	B	0.28011	0.085	T	0.68550	-0.5379	10	0.16896	T	0.51	.	10.9897	0.47543	0.0:0.7953:0.0:0.2047	.	267	Q99574	NEUS_HUMAN	V	267;267;15	ENSP00000397373:L267V;ENSP00000295777:L267V	ENSP00000295777:L267V	L	+	1	2	SERPINI1	168995224	0.736000	0.28164	0.889000	0.34880	0.052000	0.14988	1.485000	0.35519	1.398000	0.46701	0.591000	0.81541	CTG	SERPINI1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.453	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	HGNC	protein_coding	OTTHUMT00000351056.1	C			167512530	1	no_errors	ENST00000295777	ensembl	human	known	70_37	missense	SNP	0.982	G	G	167512530	C	G	167512530	3	3	160	1	0	0	0	0	1	0	0	0	14148	912	32	1	813	1	SERPINI1	3	167512530	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7365885	167512530	30509900	545	28818										
ARPM1	84517	genome.wustl.edu	37	chr3	169486122	169486122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcccatgaagtaatgagacCacgctccactgggtaactgt	9	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:169486122C>T	ENST00000330368.2	-	2	591	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	73						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											GTAATGAGACCACGCTCCACT	0.423																																																	0													61	58	59					3																	169486122		2203	4300	6503	SO:0001583	missense	84517			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.217G>A	3.37:g.169486122C>T	ENSP00000333037:p.Gly73Ser		Q96IS0|Q96NJ0	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G73S	ENST00000330368.2	37	c.217	CCDS3206.1	3	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779025	0.49891	.	.	ENSG00000184378	ENST00000330368	D	0.97505	-4.41	5.08	4.22	0.49857	.	0.000000	0.53938	D	0.000054	D	0.98588	0.9528	M	0.90870	3.155	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.99541	1.0963	10	0.87932	D	0	.	13.1799	0.59649	0.0:0.9214:0.0:0.0786	.	73	Q9BYD9	ARPM1_HUMAN	S	73	ENSP00000333037:G73S	ENSP00000333037:G73S	G	-	1	0	AC078802.1	170968816	1.000000	0.71417	0.821000	0.32701	0.001000	0.01503	5.829000	0.69316	1.520000	0.48965	-0.126000	0.14955	GGT	ACTRT3	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.423	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	C	NM_032487		169486122	-1	no_errors	ENST00000330368	ensembl	human	known	70_37	missense	SNP	0.999	T	T	169486122	C	T	169486122	3	4	160	1	0	0	0	0	1	0	0	0	977	594	21	4	905	4	ARPM1	3	169486122	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1973592	169486122	28536308	546	28819										
LRRC31	79782	genome.wustl.edu	37	chr3	169587570	169587570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcttagtttctccttctgagGaagttttcttccttgtttga	8	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:169587570G>A	ENST00000316428.5	-	1	83	c.26C>T	c.(25-27)tCc>tTc	p.S9F	LRRC31_ENST00000523069.1_Missense_Mutation_p.S9F|LRRC31_ENST00000264676.5_Missense_Mutation_p.S9F|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	9										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TCCTTCTGAGGAAGTTTTCTT	0.408																																																	0													130	118	122					3																	169587570		1826	4085	5911	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.26C>T	3.37:g.169587570G>A	ENSP00000325978:p.Ser9Phe		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S9F	ENST00000316428.5	37	c.26	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185981	0.38609	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.16073	2.8;2.37;3.04	5.0	3.12	0.35913	.	0.453330	0.19490	N	0.113014	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	D;P	0.54964	0.969;0.948	P;P	0.53809	0.735;0.671	T	0.04360	-1.0957	10	0.72032	D	0.01	.	11.207	0.48775	0.0:0.4013:0.5987:0.0	.	9;9	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	F	9	ENSP00000325978:S9F;ENSP00000264676:S9F;ENSP00000429145:S9F	ENSP00000264676:S9F	S	-	2	0	LRRC31	171070264	0.001000	0.12720	0.001000	0.08648	0.575000	0.36095	0.649000	0.24843	0.618000	0.30179	0.563000	0.77884	TCC	LRRC31	-	NULL		0.408	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169587570	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.001	A	A	169587570	G	A	169587570	3	1	160	1	0	0	0	0	1	0	0	0	9009	1174	41	1	1668	1	LRRC31	3	169587570	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	101448	169587570	28434860	547	28820										
PRKCI	5584	genome.wustl.edu	37	chr3	169953073	169953073	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctttgagggcctttgcaatGaggttcgagacatgtgttct	12	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:169953073G>C	ENST00000295797.4	+	2	462	c.157G>C	c.(157-159)Gag>Cag	p.E53Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	53	OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CCTTTGCAATGAGGTTCGAGA	0.393																																																	0													107	99	101					3																	169953073		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.157G>C	3.37:g.169953073G>C	ENSP00000295797:p.Glu53Gln		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E53Q	ENST00000295797.4	37	c.157	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785188	0.90282	.	.	ENSG00000163558	ENST00000295797	T	0.53206	0.63	5.43	5.43	0.79202	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.62209	1.925	0.80722	D	1	P	0.43885	0.82	P	0.54401	0.751	T	0.58691	-0.7592	9	.	.	.	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	53	P41743	KPCI_HUMAN	Q	53	ENSP00000295797:E53Q	.	E	+	1	0	PRKCI	171435767	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.306000	0.72810	2.516000	0.84829	0.655000	0.94253	GAG	PRKCI	-	pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta		0.393	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	G	NM_002740		169953073	1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	C	C	169953073	G	C	169953073	3	2	160	1	0	0	0	0	1	0	0	0	12541	1291	45	1	163	1	PRKCI	3	169953073	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	365503	169953073	28069357	548	28821										
PRKCI	5584	genome.wustl.edu	37	chr3	170011255	170011255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttgatattgttgggagctCcgataaccctgaccagaaca	9	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170011255C>T	ENST00000295797.4	+	14	1681	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GTTGGGAGCTCCGATAACCCT	0.408																																																	0													118	107	111					3																	170011255		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1376C>T	3.37:g.170011255C>T	ENSP00000295797:p.Ser459Phe		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S459F	ENST00000295797.4	37	c.1376	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572490	0.86542	.	.	ENSG00000163558	ENST00000295797	T	0.63255	-0.03	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	L	0.50919	1.6	0.80722	D	1	D	0.56968	0.978	P	0.60682	0.878	T	0.70883	-0.4751	9	.	.	.	.	18.5633	0.91108	0.0:1.0:0.0:0.0	.	459	P41743	KPCI_HUMAN	F	459	ENSP00000295797:S459F	.	S	+	2	0	PRKCI	171493949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.694000	0.68272	2.459000	0.83118	0.650000	0.86243	TCC	PRKCI	-	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,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.408	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	C	NM_002740		170011255	1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170011255	C	T	170011255	3	4	160	1	0	0	0	0	1	0	0	0	12541	855	30	1	1430	1	PRKCI	3	170011255	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	58182	170011255	28011175	549	28822										
SKIL	6498	genome.wustl.edu	37	chr3	170079084	170079084	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgccactggggctttgaatCagctaaatggcattgctatc	10	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170079084C>G	ENST00000458537.3	+	1	1674	c.965C>G	c.(964-966)tCa>tGa	p.S322*	SKIL_ENST00000259119.4_Nonsense_Mutation_p.S322*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.S322*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.S302*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	322					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGCTTTGAATCAGCTAAATGG	0.388																																																	0													99	101	101					3																	170079084		2203	4300	6503	SO:0001587	stop_gained	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.965C>G	3.37:g.170079084C>G	ENSP00000415243:p.Ser322*		A6NGT1|B4DT50|O00464|P12756|Q07501	Nonsense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.S322*	ENST00000458537.3	37	c.965	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.148939	0.94645	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	.	.	.	5.83	5.83	0.93111	.	0.123714	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3231	20.1789	0.98193	0.0:1.0:0.0:0.0	.	.	.	.	X	322;302;322;322	.	ENSP00000259119:S322X	S	+	2	0	SKIL	171561778	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.776000	0.95493	0.644000	0.83932	TCA	SKIL	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like		0.388	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	C	NM_005414		170079084	1	no_errors	ENST00000259119	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	170079084	C	G	170079084	4	3	160	1	0	0	0	0	0	1	0	0	14388	838	29	1	967	1	SKIL	3	170079084	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	67829	170079084	27943346	550	28823										
SLC2A2	6514	genome.wustl.edu	37	chr3	170716153	170716153	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaagaggaagatggctatCatgctcacataactcatcca	7	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170716153C>G	ENST00000314251.3	-	10	1282	c.1203G>C	c.(1201-1203)atG>atC	p.M401I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.M282I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	401					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AGATGGCTATCATGCTCACAT	0.443																																																	0													52	54	53					3																	170716153		2203	4300	6503	SO:0001583	missense	6514			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1203G>C	3.37:g.170716153C>G	ENSP00000323568:p.Met401Ile		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt	p.M401I	ENST00000314251.3	37	c.1203	CCDS3215.1	3	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185588	0.38609	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.68479	-0.33;-0.33	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.032857	0.85682	D	0.000000	T	0.34600	0.0903	N	0.00538	-1.39	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.52888	-0.8515	10	0.02654	T	1	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	401	P11168	GTR2_HUMAN	I	401;282	ENSP00000323568:M401I;ENSP00000372258:M282I	ENSP00000323568:M401I	M	-	3	0	SLC2A2	172198847	1.000000	0.71417	0.971000	0.41717	0.916000	0.54674	7.487000	0.81328	2.879000	0.98667	0.650000	0.86243	ATG	SLC2A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt		0.443	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	HGNC	protein_coding	OTTHUMT00000352834.1	C	NM_000340		170716153	-1	no_errors	ENST00000314251	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170716153	C	G	170716153	3	3	160	1	0	0	0	0	1	0	0	0	14574	826	29	1	379	1	SLC2A2	3	170716153	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	637069	170716153	27306277	551	28824										
TNIK	23043	genome.wustl.edu	37	chr3	170928992	170928992	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggtgatgagaatatttcttCaacatgttaatttcttgttt	7	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:170928992C>T	ENST00000436636.2	-	4	563	c.219G>A	c.(217-219)ttG>ttA	p.L73L	TNIK_ENST00000357327.5_Silent_p.L73L|TNIK_ENST00000284483.8_Silent_p.L73L|TNIK_ENST00000475336.1_Silent_p.L73L|TNIK_ENST00000369326.5_Silent_p.L73L|TNIK_ENST00000470834.1_Silent_p.L73L|TNIK_ENST00000460047.1_Silent_p.L73L|TNIK_ENST00000538048.1_Silent_p.L73L|TNIK_ENST00000341852.6_Silent_p.L73L|TNIK_ENST00000488470.1_Silent_p.L73L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATATTTCTTCAACATGTTAA	0.353																																																	0													138	132	134					3																	170928992		1820	4083	5903	SO:0001819	synonymous_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.219G>A	3.37:g.170928992C>T			A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L73	ENST00000436636.2	37	c.219	CCDS46956.1	3																																																																																			TNIK	-	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		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170928992	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	silent	SNP	1.000	T	T	170928992	C	T	170928992	2	4	160	1	0	0	0	0	0	0	0	1	16343	825	29	1		1	TNIK	3	170928992	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	212839	170928992	27093438	552	28825										
PLD1	5337	genome.wustl.edu	37	chr3	171453323	171453323	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggataaaggctttgtacttGagcagctctctgtgaaattc	10	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:171453323G>C	ENST00000351298.4	-	4	519	c.393C>G	c.(391-393)ctC>ctG	p.L131L	PLD1_ENST00000342215.6_Silent_p.L131L|PLD1_ENST00000356327.5_Silent_p.L131L|PLD1_ENST00000340989.4_Silent_p.L131L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	131	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGTACTTGAGCAGCTCTC	0.348																																					NSCLC(149;2174 3517 34058)												0													159	156	157					3																	171453323		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.393C>G	3.37:g.171453323G>C				Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.L131	ENST00000351298.4	37	c.393	CCDS3216.1	3																																																																																			PLD1	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox		0.348	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	G	NM_002662		171453323	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	silent	SNP	0.807	C	C	171453323	G	C	171453323	2	2	160	1	0	0	0	0	0	0	0	1	12069	1277	45	1		1	PLD1	3	171453323	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	524331	171453323	26569107	553	28826										
FNDC3B	64778	genome.wustl.edu	37	chr3	172052756	172052757	+	Frame_Shift_Ins	INS	-	-	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgcttctaatacggaaggINSaaaaagctgtccaagcgaag							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:172052756_172052757insA	ENST00000336824.4	+	15	1763_1764	c.1664_1665insA	c.(1663-1668)ggaaaafs	p.GK555fs	FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.GK555fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.GK555fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	555	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATACGGAAGGAAAAAGCTGTC	0.436																																																	0																																										SO:0001589	frameshift_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1669dupA	3.37:g.172052761_172052761dupA	ENSP00000338523:p.Gly555fs		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S557fs	ENST00000336824.4	37	c.1664_1665	CCDS3217.1	3																																																																																			FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.436	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	NM_022763		172052757	1	no_errors	ENST00000336824	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.994	A	A	172052757	-	A	172052756	7	5	160	1	0	1	1	0	0	0	0	0	5988	1174	41	0	1718	0	FNDC3B	3	172052756	Frame_Shift_Ins	INS	-	TCGA-JW-A5VL-01A-11D-A28B-09	599433	172052756	25969674	554	28827										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	160	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6883335	178936091	19086339	555	28828										
ACTL6A	86	genome.wustl.edu	37	chr3	179294466	179294466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgcagtgcagagaactcttCcaagaaatgaatattgaatt	8	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:179294466C>G	ENST00000429709.2	+	7	843	c.630C>G	c.(628-630)ttC>ttG	p.F210L	ACTL6A_ENST00000450518.2_Missense_Mutation_p.F168L|ACTL6A_ENST00000392662.1_Missense_Mutation_p.F168L|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	210				F -> L (in Ref. 4; CAB66543). {ECO:0000305}.	ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GAGAACTCTTCCAAGAAATGA	0.383																																																	0													143	151	148					3																	179294466		2203	4300	6503	SO:0001583	missense	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.630C>G	3.37:g.179294466C>G	ENSP00000397552:p.Phe210Leu		B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.F210L	ENST00000429709.2	37	c.630	CCDS3231.1	3	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364353	0.11296	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95690	-3.78;-3.78;-3.78	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	N	0.00841	-1.15	0.58432	D	0.999998	B	0.15719	0.014	B	0.15870	0.014	T	0.77558	-0.2543	10	0.02654	T	1	.	7.0393	0.25010	0.0:0.789:0.0:0.211	.	210	O96019	ACL6A_HUMAN	L	210;168;168	ENSP00000397552:F210L;ENSP00000394014:F168L;ENSP00000376430:F168L	ENSP00000376430:F168L	F	+	3	2	ACTL6A	180777160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.188000	0.42612	2.517000	0.84864	0.650000	0.86243	TTC	ACTL6A	-	pfam_Actin-like,smart_Actin-like		0.383	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	C	NM_004301		179294466	1	no_errors	ENST00000429709	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179294466	C	G	179294466	3	3	160	1	0	0	0	0	1	0	0	0	198	854	30	1	656	1	ACTL6A	3	179294466	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	358375	179294466	18727964	556	28829										
FXR1	8087	genome.wustl.edu	37	chr3	180666275	180666275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggatgttcctgaggatttGagagaggcgtgagtaatttt	15	3	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:180666275G>C	ENST00000357559.4	+	5	795	c.411G>C	c.(409-411)ttG>ttC	p.L137F	FXR1_ENST00000480918.1_Missense_Mutation_p.L124F|FXR1_ENST00000468861.1_Missense_Mutation_p.L52F|FXR1_ENST00000491062.1_Missense_Mutation_p.L88F|FXR1_ENST00000445140.2_Missense_Mutation_p.L137F|FXR1_ENST00000305586.7_Missense_Mutation_p.L52F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	137					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTGAGGATTTGAGAGAGGCGT	0.333																																																	0													58	61	60					3																	180666275		2193	4297	6490	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.411G>C	3.37:g.180666275G>C	ENSP00000350170:p.Leu137Phe		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.L137F	ENST00000357559.4	37	c.411	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655079	0.67472	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	T;T;T;T;T;T;T;T;T;T;T	0.63255	0.01;0.11;0.21;1.08;0.48;0.24;0.01;0.43;-0.01;0.87;-0.03	5.98	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.87547	2.89	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.994;0.983;0.983;0.993;0.998;0.998	P;D;P;P;D;D	0.78314	0.856;0.917;0.894;0.839;0.984;0.991	T	0.81906	-0.0718	10	0.87932	D	0	-5.5871	10.6883	0.45856	0.1919:0.0:0.8081:0.0	.	124;88;52;52;137;137	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	F	52;52;52;137;52;88;52;137;52;124;141	ENSP00000419793:L52F;ENSP00000417125:L52F;ENSP00000418724:L52F;ENSP00000350170:L137F;ENSP00000307633:L52F;ENSP00000420643:L88F;ENSP00000420515:L52F;ENSP00000388828:L137F;ENSP00000419933:L52F;ENSP00000418097:L124F;ENSP00000417513:L141F	ENSP00000307633:L52F	L	+	3	2	FXR1	182148969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.179000	0.31993	2.835000	0.97688	0.650000	0.86243	TTG	FXR1	-	NULL		0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	G			180666275	1	no_errors	ENST00000357559	ensembl	human	known	70_37	missense	SNP	1.000	C	C	180666275	G	C	180666275	3	2	160	1	0	0	0	0	1	0	0	0	6133	1281	45	1	429	1	FXR1	3	180666275	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1371809	180666275	17356155	557	28830										
KLHL6	89857	genome.wustl.edu	37	chr3	183273245	183273245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtcagagcgttttccattCgcagggtttccaggccattc	10	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183273245C>T	ENST00000341319.3	-	1	232	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	66					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTTTCCATTCGCAGGGTTTC	0.493																																																	0													138	135	136					3																	183273245		2203	4300	6503	SO:0001583	missense	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.197G>A	3.37:g.183273245C>T	ENSP00000341342:p.Arg66Gln		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R66Q	ENST00000341319.3	37	c.197	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431958	0.83776	.	.	ENSG00000172578	ENST00000341319	T	0.73152	-0.72	5.56	5.56	0.83823	BTB/POZ (1);BTB/POZ fold (2);	0.064498	0.64402	D	0.000007	T	0.81805	0.4900	M	0.72353	2.195	0.45528	D	0.998485	D	0.56746	0.977	P	0.57468	0.821	D	0.83402	0.0023	10	0.72032	D	0.01	.	19.5245	0.95199	0.0:1.0:0.0:0.0	.	66	Q8WZ60	KLHL6_HUMAN	Q	66	ENSP00000341342:R66Q	ENSP00000341342:R66Q	R	-	2	0	KLHL6	184755939	0.997000	0.39634	0.517000	0.27799	0.408000	0.30992	6.279000	0.72620	2.608000	0.88229	0.655000	0.94253	CGA	KLHL6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.493	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	C	NM_130446		183273245	-1	no_errors	ENST00000341319	ensembl	human	known	70_37	missense	SNP	0.668	T	T	183273245	C	T	183273245	3	4	160	1	0	0	0	0	1	0	0	0	8413	884	31	1	1696	1	KLHL6	3	183273245	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2606970	183273245	14749185	558	28831										
YEATS2	55689	genome.wustl.edu	37	chr3	183476669	183476669	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaagtcctacaaacaagatCtccacggcttctcaggtctc	8	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183476669C>T	ENST00000305135.5	+	13	1767	c.1572C>T	c.(1570-1572)atC>atT	p.I524I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	524					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAACAAGATCTCCACGGCTT	0.383																																																	0													139	126	130					3																	183476669		1834	4082	5916	SO:0001819	synonymous_variant	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1572C>T	3.37:g.183476669C>T			A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.I524	ENST00000305135.5	37	c.1572	CCDS43175.1	3																																																																																			YEATS2	-	NULL		0.383	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183476669	1	no_errors	ENST00000305135	ensembl	human	known	70_37	silent	SNP	0.973	T	T	183476669	C	T	183476669	2	4	160	1	0	0	0	0	0	0	0	1	17503	903	32	1		1	YEATS2	3	183476669	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	203424	183476669	14545761	559	28832										
ABCC5	10057	genome.wustl.edu	37	chr3	183685504	183685504	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcctaaaatggctgaaatGagagaggtttttccacttcc	10	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183685504G>C	ENST00000334444.6	-	12	2052	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	ABCC5_ENST00000265586.6_Silent_p.L604L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	604	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGCTGAAATGAGAGAGGTTT	0.443																																																	0													220	217	218					3																	183685504		1895	4120	6015	SO:0001819	synonymous_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1812C>G	3.37:g.183685504G>C			B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L604	ENST00000334444.6	37	c.1812	CCDS43176.1	3																																																																																			ABCC5	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.443	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	G	NM_005688		183685504	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	silent	SNP	0.975	C	C	183685504	G	C	183685504	2	2	160	1	0	0	0	0	0	0	0	1	56	1277	45	1		1	ABCC5	3	183685504	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	208835	183685504	14336926	560	28833										
HTR3D	200909	genome.wustl.edu	37	chr3	183756156	183756156	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaagaaacaagaaattctaGgtggcgcctctggccctcat	10	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:183756156G>A	ENST00000382489.3	+	7	879		c.e7-1		HTR3D_ENST00000428798.2_Intron|HTR3D_ENST00000334128.2_Intron|HTR3D_ENST00000453435.1_Intron	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	AGAAATTCTAGGTGGCGCCTC	0.567																																																	0													49	51	50					3																	183756156		2203	4300	6503	SO:0001630	splice_region_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.880-1G>A	3.37:g.183756156G>A			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Splice_Site	SNP	-	e7-1	ENST00000382489.3	37	c.880-1	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	G	6.126	0.391557	0.11581	.	.	ENSG00000186090	ENST00000382489	.	.	.	3.26	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0202	0.14358	0.2495:0.0:0.7505:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTR3D	185238850	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.007000	0.12810	0.568000	0.29311	0.462000	0.41574	.	HTR3D	-	-		0.567	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	G	NM_182537	Intron	183756156	1	no_errors	ENST00000382489	ensembl	human	known	70_37	splice_site	SNP	0.001	A	A	183756156	G	A	183756156	5	1	160	1	0	0	0	0	0	0	1	0	7467	1014	35	4	1075	4	HTR3D	3	183756156	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	70652	183756156	14266274	561	28834										
ECE2	9718	genome.wustl.edu	37	chr3	184001666	184001666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcagatgcagcaggtgctgGagttggagatacagctggcc	16	8	0	2	rs201320198		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184001666G>A	ENST00000402825.3	+	8	1264	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ECE2_ENST00000359140.4_Missense_Mutation_p.E275K|ECE2_ENST00000357474.5_Missense_Mutation_p.E350K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E304K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	422	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGTGCTGGAGTTGGAGAT	0.597																																																	0													76	66	69					3																	184001666		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1264G>A	3.37:g.184001666G>A	ENSP00000384223:p.Glu422Lys		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.E422K	ENST00000402825.3	37	c.1264	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878785	0.91740	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.3	4.3	0.51218	Peptidase M13 (1);	0.177457	0.49305	D	0.000150	T	0.75503	0.3858	L	0.38531	1.155	0.53688	D	0.999977	P;P;P;B;P;P;P	0.50156	0.661;0.866;0.932;0.018;0.917;0.855;0.866	P;P;P;B;P;P;P	0.54544	0.515;0.755;0.755;0.026;0.64;0.547;0.752	T	0.75602	-0.3261	10	0.39692	T	0.17	-24.9029	15.4844	0.75555	0.0:0.0:1.0:0.0	.	24;275;293;304;350;275;422	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	K	422;275;304;350;296	ENSP00000384223:E422K;ENSP00000352052:E275K;ENSP00000385846:E304K;ENSP00000350066:E350K;ENSP00000398444:E296K	ENSP00000350066:E350K	E	+	1	0	ECE2	185484360	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.326000	0.79133	2.222000	0.72286	0.650000	0.86243	GAG	ECE2	-	pfam_Peptidase_M13_N		0.597	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		184001666	1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184001666	G	A	184001666	3	1	160	1	0	0	0	0	1	0	0	0	4900	1175	41	1	1858	1	ECE2	3	184001666	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	245510	184001666	14020764	562	28835										
CLCN2	1181	genome.wustl.edu	37	chr3	184071526	184071526	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtcccggaaggtgcagctGagggccacatggggaacatc	16	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184071526G>C	ENST00000265593.4	-	16	1950	c.1779C>G	c.(1777-1779)ctC>ctG	p.L593L	CLCN2_ENST00000344937.7_Silent_p.L576L|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Silent_p.L593L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.L549L|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	593	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGTGCAGCTGAGGGCCACAT	0.652																																																	0													47	44	45					3																	184071526		2201	4300	6501	SO:0001819	synonymous_variant	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1779C>G	3.37:g.184071526G>C			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.L593	ENST00000265593.4	37	c.1779	CCDS3263.1	3																																																																																			CLCN2	-	NULL		0.652	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	G			184071526	-1	no_errors	ENST00000265593	ensembl	human	known	70_37	silent	SNP	0.976	C	C	184071526	G	C	184071526	2	2	160	1	0	0	0	0	0	0	0	1	3468	1277	45	1		1	CLCN2	3	184071526	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	69860	184071526	13950904	563	28836										
THPO	7066	genome.wustl.edu	37	chr3	184090438	184090438	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgggcaaggtgggtggaaGagggaagagcgtatactgtc	20	4	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184090438G>A	ENST00000204615.7	-	6	1139	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	THPO_ENST00000421442.2_Missense_Mutation_p.S270F|THPO_ENST00000445696.2_Missense_Mutation_p.L305F|THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	309	Pro-rich.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGGTGGAAGAGGGAAGAGC	0.592																																																	0													152	161	158					3																	184090438		2203	4300	6503	SO:0001583	missense	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.925C>T	3.37:g.184090438G>A	ENSP00000204615:p.Leu309Phe		A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.L309F	ENST00000204615.7	37	c.925	CCDS3265.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.01|17.01	3.279399|3.279399	0.59758|0.59758	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.35605|0.38240	1.3;1.3|1.15	4.3|4.3	3.42|3.42	0.39159|0.39159	Four-helical cytokine, core (1);|.	0.539313|.	0.15754|.	N|.	0.246270|.	T|T	0.17704|0.17704	0.0425|0.0425	N|N	0.08118|0.08118	0|0	0.21220|0.21220	N|N	0.999759|0.999759	B;B|B	0.29955|0.12013	0.263;0.171|0.005	B;B|B	0.28385|0.14023	0.089;0.041|0.01	T|T	0.24012|0.24012	-1.0172|-1.0172	10|8	0.46703|.	T|.	0.11|.	-14.1851|-14.1851	7.9853|7.9853	0.30207|0.30207	0.113:0.0:0.887:0.0|0.113:0.0:0.887:0.0	.|.	305;309|270	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	F|F	309;305;270|270	ENSP00000204615:L309F;ENSP00000410763:L305F|ENSP00000411704:S270F	ENSP00000204615:L309F|.	L|S	-|-	1|2	0|0	THPO|THPO	185573132|185573132	0.925000|0.925000	0.31364|0.31364	0.136000|0.136000	0.22124|0.22124	0.343000|0.343000	0.28985|0.28985	2.993000|2.993000	0.49425|0.49425	1.022000|1.022000	0.39626|0.39626	0.467000|0.467000	0.42956|0.42956	CTT|TCT	THPO	-	NULL		0.592	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	G	NM_000460		184090438	-1	no_errors	ENST00000204615	ensembl	human	known	70_37	missense	SNP	0.714	A	A	184090438	G	A	184090438	3	1	160	1	0	0	0	0	1	0	0	0	15902	942	33	1	140	1	THPO	3	184090438	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18912	184090438	13931992	564	28837										
EPHB3	2049	genome.wustl.edu	37	chr3	184295250	184295250	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actacgagatgaagtactttGagaaggtcagaacctcaagg	11	7	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184295250G>C	ENST00000330394.2	+	6	1926	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GAAGTACTTTGAGAAGGTCAG	0.602																																																	0													51	56	54					3																	184295250		2203	4300	6503	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1474G>C	3.37:g.184295250G>C	ENSP00000332118:p.Glu492Gln		Q7Z740	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E492Q	ENST00000330394.2	37	c.1474	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459029	0.63401	.	.	ENSG00000182580	ENST00000330394	T	0.57595	0.39	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123765	0.56097	D	0.000040	T	0.53110	0.1776	M	0.63428	1.95	0.58432	D	0.999996	B	0.27068	0.167	B	0.30646	0.118	T	0.56171	-0.8023	10	0.72032	D	0.01	.	13.9873	0.64343	0.0:0.1516:0.8484:0.0	.	492	P54753	EPHB3_HUMAN	Q	492	ENSP00000332118:E492Q	ENSP00000332118:E492Q	E	+	1	0	EPHB3	185777944	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.831000	0.86748	2.649000	0.89929	0.448000	0.29417	GAG	EPHB3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184295250	1	no_errors	ENST00000330394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184295250	G	C	184295250	3	2	160	1	0	0	0	0	1	0	0	0	5188	1291	45	1	1496	1	EPHB3	3	184295250	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	204812	184295250	13727180	565	28838										
MAGEF1	64110	genome.wustl.edu	37	chr3	184429175	184429175	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaggttttagtttgttgatCaggatgtaagtgtggtgctt	14	2	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:184429175C>T	ENST00000317897.3	-	1	661	c.435G>A	c.(433-435)ctG>ctA	p.L145L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	145	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GTTTGTTGATCAGGATGTAAG	0.502																																																	0													76	82	80					3																	184429175		2203	4300	6503	SO:0001819	synonymous_variant	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.435G>A	3.37:g.184429175C>T			Q9H215	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L145	ENST00000317897.3	37	c.435	CCDS3269.1	3																																																																																			MAGEF1	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEF1	HGNC	protein_coding	OTTHUMT00000345417.1	C	NM_022149		184429175	-1	no_errors	ENST00000317897	ensembl	human	known	70_37	silent	SNP	0.063	T	T	184429175	C	T	184429175	2	4	160	1	0	0	0	0	0	0	0	1	9210	813	29	1		1	MAGEF1	3	184429175	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133925	184429175	13593255	566	28839										
SENP2	59343	genome.wustl.edu	37	chr3	185344103	185344103	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taggagattcctcaacagctGaatgggagtgattgtggaat	13	5	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:185344103G>C	ENST00000296257.5	+	16	1869	c.1629G>C	c.(1627-1629)ctG>ctC	p.L543L	SENP2_ENST00000545472.1_Silent_p.L533L|SENP2_ENST00000427465.2_Silent_p.L367L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	543	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCAACAGCTGAATGGGAGTG	0.338																																																	0													100	99	99					3																	185344103		2203	4300	6503	SO:0001819	synonymous_variant	59343			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1629G>C	3.37:g.185344103G>C			B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L543	ENST00000296257.5	37	c.1629	CCDS33902.1	3																																																																																			SENP2	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.338	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	G	NM_021627		185344103	1	no_errors	ENST00000296257	ensembl	human	known	70_37	silent	SNP	1.000	C	C	185344103	G	C	185344103	2	2	160	1	0	0	0	0	0	0	0	1	14077	1277	45	1		1	SENP2	3	185344103	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	914928	185344103	12678327	567	28840										
DGKG	1608	genome.wustl.edu	37	chr3	185906061	185906061	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccggatcacagcccggttCttcttgttttctccccagag	8	15	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:185906061C>G	ENST00000265022.3	-	22	2564	c.2025G>C	c.(2023-2025)aaG>aaC	p.K675N	DGKG_ENST00000344484.4_Missense_Mutation_p.K650N|DGKG_ENST00000382164.4_Missense_Mutation_p.K636N|DGKG_ENST00000544847.1_Missense_Mutation_p.K616N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	675					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CAGCCCGGTTCTTCTTGTTTT	0.502																																																	0													148	134	139					3																	185906061		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2025G>C	3.37:g.185906061C>G	ENSP00000265022:p.Lys675Asn		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K675N	ENST00000265022.3	37	c.2025	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761427	0.31228	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.44	3.47	0.39725	Diacylglycerol kinase, accessory domain (2);	0.116792	0.56097	D	0.000028	T	0.40719	0.1128	L	0.53617	1.68	0.43494	D	0.995731	B;B;B;P	0.51933	0.166;0.179;0.165;0.949	B;B;B;P	0.57960	0.083;0.17;0.051;0.83	T	0.25433	-1.0132	10	0.72032	D	0.01	.	7.6304	0.28236	0.0:0.7974:0.0:0.2026	.	616;650;636;675	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	N	675;650;636;616	ENSP00000265022:K675N;ENSP00000339777:K650N;ENSP00000371599:K636N;ENSP00000440507:K616N	ENSP00000265022:K675N	K	-	3	2	DGKG	187388755	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	0.659000	0.24994	2.307000	0.77673	0.313000	0.20887	AAG	DGKG	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	C			185906061	-1	no_errors	ENST00000265022	ensembl	human	known	70_37	missense	SNP	1.000	G	G	185906061	C	G	185906061	3	3	160	1	0	0	0	0	1	0	0	0	4479	912	32	1	366	1	DGKG	3	185906061	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	561958	185906061	12116369	568	28841										
FETUB	26998	genome.wustl.edu	37	chr3	186358435	186358435	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaaaggatggctatgtgctGagactcaaccgagtgaacga	13	7	1	3	rs544439289	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:186358435G>C	ENST00000265029.3	+	1	287	c.186G>C	c.(184-186)ctG>ctC	p.L62L	RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Silent_p.L62L|FETUB_ENST00000382136.3_Silent_p.L62L|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Silent_p.L62L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	62	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCTATGTGCTGAGACTCAACC	0.577																																																	0													142	151	148					3																	186358435		2203	4300	6503	SO:0001819	synonymous_variant	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.186G>C	3.37:g.186358435G>C			B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L62	ENST00000265029.3	37	c.186	CCDS3279.1	3																																																																																			FETUB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.577	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	G	NM_014375		186358435	1	no_errors	ENST00000265029	ensembl	human	known	70_37	silent	SNP	0.997	C	C	186358435	G	C	186358435	2	2	160	1	0	0	0	0	0	0	0	1	5839	1277	45	1		1	FETUB	3	186358435	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	452374	186358435	11663995	569	28842										
BCL6	604	genome.wustl.edu	37	chr3	187447542	187447542	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggggttggccacaggcatCcggacatcccgaaactcctc	11	14	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:187447542C>T	ENST00000406870.2	-	5	1017	c.651G>A	c.(649-651)cgG>cgA	p.R217R	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.R217R|BCL6_ENST00000450123.2_Silent_p.R217R|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	217					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCACAGGCATCCGGACATCCC	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													44	44	44					3																	187447542		2203	4300	6503	SO:0001819	synonymous_variant	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.651G>A	3.37:g.187447542C>T			A7E241|B8PSA7|D3DNV5	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R217	ENST00000406870.2	37	c.651	CCDS3289.1	3																																																																																			BCL6	-	NULL		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	C	NM_138931		187447542	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	silent	SNP	1.000	T	T	187447542	C	T	187447542	2	4	160	1	0	0	0	0	0	0	0	1	1377	842	30	1		1	BCL6	3	187447542	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1089107	187447542	10574888	570	28843										
LPP	4026	genome.wustl.edu	37	chr3	188592179	188592179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaggagataaccaaggctGctaccccttggatgggcaca	12	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:188592179G>A	ENST00000312675.4	+	11	1997	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	LPP_ENST00000543006.1_Missense_Mutation_p.C584Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	584	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AACCAAGGCTGCTACCCCTTG	0.502			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0													175	154	161					3																	188592179		2203	4300	6503	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1751G>A	3.37:g.188592179G>A	ENSP00000318089:p.Cys584Tyr		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.C584Y	ENST00000312675.4	37	c.1751	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859733	0.91433	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.87029	-2.2;-2.2	5.79	5.79	0.91817	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	D	0.96223	0.9162	10	0.52906	T	0.07	.	19.0299	0.92952	0.0:0.0:1.0:0.0	.	437;584	B7Z8W0;Q93052	.;LPP_HUMAN	Y	584	ENSP00000318089:C584Y;ENSP00000438891:C584Y	ENSP00000318089:C584Y	C	+	2	0	LPP	190074873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	TGC	LPP	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.502	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	G	NM_005578		188592179	1	no_errors	ENST00000312675	ensembl	human	known	70_37	missense	SNP	1.000	A	A	188592179	G	A	188592179	3	1	160	1	0	0	0	0	1	0	0	0	8946	1319	46	4	1785	4	LPP	3	188592179	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1144637	188592179	9430251	571	28844										
TP63	8626	genome.wustl.edu	37	chr3	189586483	189586483	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagtttcggacagtacaaaGaacggtgatggtacgaagcg	13	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:189586483G>C	ENST00000264731.3	+	8	1196	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	TP63_ENST00000456148.1_Missense_Mutation_p.K275N|TP63_ENST00000418709.2_Missense_Mutation_p.K369N|TP63_ENST00000392461.3_Missense_Mutation_p.K275N|TP63_ENST00000354600.5_Missense_Mutation_p.K275N|TP63_ENST00000437221.1_Missense_Mutation_p.K275N|TP63_ENST00000320472.5_Missense_Mutation_p.K369N|TP63_ENST00000392460.3_Missense_Mutation_p.K369N|TP63_ENST00000382063.4_Missense_Mutation_p.K284N|TP63_ENST00000449992.1_Missense_Mutation_p.K190N|TP63_ENST00000440651.2_Missense_Mutation_p.K369N|TP63_ENST00000392463.2_Missense_Mutation_p.K275N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	369	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.K369N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGTACAAAGAACGGTGATG	0.517										HNSCC(45;0.13)																																							1	Substitution - Missense(1)	kidney(1)											133	125	128					3																	189586483		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1107G>C	3.37:g.189586483G>C	ENSP00000264731:p.Lys369Asn		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.K369N	ENST00000264731.3	37	c.1107	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249808	0.80024	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99737	-6.3;-6.56;-6.56;-6.56;-6.42;-6.58;-6.27;-6.5;-6.52;-6.52;-6.59;-6.37	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	L	0.57536	1.79	0.80722	D	1	D;D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.588;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;B;D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.318;1.0;1.0;0.999;0.995;0.999;1.0	D	0.98567	1.0644	9	.	.	.	-14.4714	14.6053	0.68475	0.0696:0.0:0.9304:0.0	.	190;369;369;275;275;275;275;369;369;369	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	N	369;369;369;369;369;284;275;275;275;275;190;275	ENSP00000264731:K369N;ENSP00000407144:K369N;ENSP00000317510:K369N;ENSP00000376253:K369N;ENSP00000394337:K369N;ENSP00000371495:K284N;ENSP00000346614:K275N;ENSP00000392488:K275N;ENSP00000376256:K275N;ENSP00000376254:K275N;ENSP00000387839:K190N;ENSP00000389485:K275N	.	K	+	3	2	TP63	191069177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	1.552000	0.49463	0.655000	0.94253	AAG	TP63	-	NULL		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	G	NM_003722		189586483	1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	189586483	G	C	189586483	3	2	160	1	0	0	0	0	1	0	0	0	16423	933	33	1	1183	1	TP63	3	189586483	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	994304	189586483	8435947	572	28845										
LEPREL1	55214	genome.wustl.edu	37	chr3	189690765	189690765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgagccttttcgctgatgtCataaaacagacgagcgctct	9	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:189690765C>T	ENST00000319332.5	-	11	1794	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	LEPREL1_ENST00000427335.2_Missense_Mutation_p.D352N	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	533					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCGCTGATGTCATAAAACAGA	0.413																																																	0													91	82	85					3																	189690765		2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1597G>A	3.37:g.189690765C>T	ENSP00000316881:p.Asp533Asn		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.D533N	ENST00000319332.5	37	c.1597	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375547	0.61735	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.42513	0.97;0.97	5.57	5.57	0.84162	Prolyl 4-hydroxylase, alpha subunit (1);	0.087836	0.85682	D	0.000000	T	0.30039	0.0752	N	0.13327	0.33	0.80722	D	1	B	0.17038	0.02	B	0.24006	0.05	T	0.08534	-1.0717	9	.	.	.	-23.139	18.5429	0.91035	0.0:1.0:0.0:0.0	.	533	Q8IVL5	P3H2_HUMAN	N	533;352	ENSP00000316881:D533N;ENSP00000408947:D352N	.	D	-	1	0	LEPREL1	191173459	0.998000	0.40836	1.000000	0.80357	0.893000	0.52053	2.974000	0.49272	2.606000	0.88127	0.650000	0.86243	GAC	LEPREL1	-	smart_Pro_4_hyd_alph		0.413	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189690765	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	1.000	T	T	189690765	C	T	189690765	3	4	160	1	0	0	0	0	1	0	0	0	8750	826	29	1	549	1	LEPREL1	3	189690765	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	104282	189690765	8331665	573	28846										
IL1RAP	3556	genome.wustl.edu	37	chr3	190322170	190322170	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggttccggcccactctcctCaatgacactggcaactatac	7	15	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:190322170C>G	ENST00000412504.2	+	3	570	c.318C>G	c.(316-318)ctC>ctG	p.L106L	IL1RAP_ENST00000439062.1_Silent_p.L106L|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000447382.1_Silent_p.L106L|IL1RAP_ENST00000072516.3_Silent_p.L106L|IL1RAP_ENST00000317757.3_Silent_p.L106L|IL1RAP_ENST00000443369.2_Silent_p.L106L|IL1RAP_ENST00000422940.1_Silent_p.L106L|IL1RAP_ENST00000422485.1_Silent_p.L106L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	106	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCACTCTCCTCAATGACACTG	0.517																																																	0													69	63	65					3																	190322170		2203	4300	6503	SO:0001819	synonymous_variant	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.318C>G	3.37:g.190322170C>G			B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.L106	ENST00000412504.2	37	c.318	CCDS3298.1	3																																																																																			IL1RAP	-	smart_Ig_sub		0.517	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	C			190322170	1	no_errors	ENST00000443369	ensembl	human	known	70_37	silent	SNP	1.000	G	G	190322170	C	G	190322170	2	3	160	1	0	0	0	0	0	0	0	1	7680	813	29	1		1	IL1RAP	3	190322170	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	631405	190322170	7700260	574	28847										
IL1RAP	3556	genome.wustl.edu	37	chr3	190374011	190374011	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggctggaatgagagctgctCttcccagtctgacatcagtc	11	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:190374011C>G	ENST00000317757.3	+	12	1885	c.1679C>G	c.(1678-1680)tCt>tGt	p.S560C	RP11-268E23.2_ENST00000609508.1_lincRNA|IL1RAP_ENST00000443369.2_Missense_Mutation_p.S560C	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	562					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAGAGCTGCTCTTCCCAGTCT	0.512																																																	0													34	34	34					3																	190374011		692	1591	2283	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1679C>G	3.37:g.190374011C>G	ENSP00000314807:p.Ser560Cys		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.S560C	ENST00000317757.3	37	c.1679	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738777	0.69304	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01665	4.7;4.7	5.51	5.51	0.81932	.	.	.	.	.	T	0.07818	0.0196	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.36792	-0.9733	9	0.38643	T	0.18	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	560	Q9NPH3-5	.	C	560	ENSP00000408893:S560C;ENSP00000314807:S560C	ENSP00000314807:S560C	S	+	2	0	IL1RAP	191856705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.175000	0.71949	2.577000	0.86979	0.561000	0.74099	TCT	IL1RAP	-	NULL		0.512	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190374011	1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	1.000	G	G	190374011	C	G	190374011	3	3	160	1	0	0	0	0	1	0	0	0	7680	913	32	1	2109	1	IL1RAP	3	190374011	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	51841	190374011	7648419	575	28848										
C3orf59	151963	genome.wustl.edu	37	chr3	192635560	192635560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccgacctgaaatccagctCcgggaacgcaggcttgttgt	11	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:192635560C>T	ENST00000392452.2	-	1	390	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	24							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AAATCCAGCTCCGGGAACGCA	0.587																																																	0													73	69	71					3																	192635560		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.70G>A	3.37:g.192635560C>T	ENSP00000376246:p.Glu24Lys		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.E24K	ENST00000392452.2	37	c.70	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447235	0.63178	.	.	ENSG00000180611	ENST00000392452	T	0.47528	0.84	5.66	4.77	0.60923	.	0.130302	0.53938	D	0.000050	T	0.37293	0.0998	L	0.34521	1.04	0.52501	D	0.999957	B	0.27351	0.176	B	0.23716	0.048	T	0.11991	-1.0565	10	0.30854	T	0.27	.	14.5582	0.68118	0.1477:0.8523:0.0:0.0	.	24	Q8IYB1	M21D2_HUMAN	K	24	ENSP00000376246:E24K	ENSP00000376246:E24K	E	-	1	0	MB21D2	194118254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.553000	0.82203	1.353000	0.45828	0.585000	0.79938	GAG	MB21D2	-	NULL		0.587	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	C	NM_178496		192635560	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	192635560	C	T	192635560	3	4	160	1	0	0	0	0	1	0	0	0	2242	864	30	1	1413	1	C3orf59	3	192635560	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2261549	192635560	5386870	576	28849										
ATP13A4	84239	genome.wustl.edu	37	chr3	193174915	193174915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgatgagaatgggaactgatGcaggattgcaattccttcca	11	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:193174915G>A	ENST00000342695.4	-	16	2111	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.H578Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	597						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGGAACTGATGCAGGATTGCA	0.502																																																	0													129	115	120					3																	193174915		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1789C>T	3.37:g.193174915G>A	ENSP00000339182:p.His597Tyr		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.H597Y	ENST00000342695.4	37	c.1789	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747180	0.89663	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.70164	-0.46;-0.46	5.86	5.86	0.93980	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.147080	0.48286	D	0.000200	D	0.82697	0.5093	M	0.80028	2.48	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.997	D;P;D	0.66351	0.943;0.905;0.943	D	0.83831	0.0252	10	0.66056	D	0.02	-16.5809	19.1654	0.93555	0.0:0.0:1.0:0.0	.	578;597;597	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Y	578;597	ENSP00000376238:H578Y;ENSP00000339182:H597Y	ENSP00000339182:H597Y	H	-	1	0	ATP13A4	194657609	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.468000	0.80943	2.778000	0.95560	0.655000	0.94253	CAT	ATP13A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr		0.502	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	G	NM_032279		193174915	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	1.000	A	A	193174915	G	A	193174915	3	1	160	1	0	0	0	0	1	0	0	0	1127	1319	46	4	1861	4	ATP13A4	3	193174915	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	539355	193174915	4847515	577	28850										
TMEM44	93109	genome.wustl.edu	37	chr3	194344315	194344315	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggatggtggctgaagccttCgggacagcaacccacagagc	14	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:194344315C>T	ENST00000392432.2	-	4	673	c.468G>A	c.(466-468)ccG>ccA	p.P156P	TMEM44_ENST00000381975.3_Silent_p.P156P|TMEM44_ENST00000330115.3_Silent_p.P53P|TMEM44_ENST00000273580.7_Silent_p.P156P|TMEM44_ENST00000347147.4_Silent_p.P156P|TMEM44_ENST00000473092.1_Silent_p.P156P	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	156						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAAGCCTTCGGGACAGCAA	0.692																																																	0																																										SO:0001819	synonymous_variant	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.468G>A	3.37:g.194344315C>T			A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	NULL	p.P156	ENST00000392432.2	37	c.468	CCDS54699.1	3																																																																																			TMEM44	-	NULL		0.692	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	C	NM_138399		194344315	-1	no_errors	ENST00000392432	ensembl	human	known	70_37	silent	SNP	0.000	T	T	194344315	C	T	194344315	2	4	160	1	0	0	0	0	0	0	0	1	16198	871	31	1		1	TMEM44	3	194344315	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1169400	194344315	3678115	578	28851										
MUC20	200958	genome.wustl.edu	37	chr3	195453117	195453117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagttacgtcaaagtctcagGagcagctccggtctccatag	10	11	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195453117G>T	ENST00000447234.2	+	2	1769	c.1643G>T	c.(1642-1644)gGa>gTa	p.G548V	MUC20_ENST00000445522.2_Missense_Mutation_p.G513V|MUC20_ENST00000320736.6_Missense_Mutation_p.G377V|MUC20_ENST00000436408.1_Missense_Mutation_p.G548V	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	548	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AAAGTCTCAGGAGCAGCTCCG	0.572																																																	0													48	44	45					3																	195453117		1964	4147	6111	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1643G>T	3.37:g.195453117G>T	ENSP00000414350:p.Gly548Val		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.G548V	ENST00000447234.2	37	c.1643		3	.	.	.	.	.	.	.	.	.	.	G	9.846	1.192454	0.21954	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.21031	2.48;2.59;2.65;2.03	3.87	2.89	0.33648	.	0.183648	0.26757	N	0.022650	T	0.28928	0.0718	L	0.34521	1.04	0.09310	N	0.999993	D	0.89917	1.0	D	0.72338	0.977	T	0.02766	-1.1113	10	0.66056	D	0.02	-4.1368	6.2329	0.20744	0.166:0.0:0.834:0.0	.	377	E9PH32	.	V	548;377;548;513	ENSP00000414350:G548V;ENSP00000325431:G377V;ENSP00000396774:G548V;ENSP00000405629:G513V	ENSP00000325431:G377V	G	+	2	0	MUC20	196938788	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	-0.027000	0.12371	0.825000	0.34637	0.514000	0.50259	GGA	MUC20	-	NULL		0.572	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	G	NM_152673		195453117	1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.006	T	T	195453117	G	T	195453117	3	4	160	1	0	0	0	0	1	0	0	0	9999	1174	41	3	1140	3	MUC20	3	195453117	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1108802	195453117	2569313	579	28852										
ZDHHC19	131540	genome.wustl.edu	37	chr3	195935261	195935261	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccacgtgggcggatacgcGatggccttgtcggtggagaa	16	11	0	1	rs576954717		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:195935261G>C	ENST00000296326.3	-	4	658	c.579C>G	c.(577-579)atC>atG	p.I193M	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	193						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCGGATACGCGATGGCCTTGT	0.667																																																	0													70	78	75					3																	195935261		2122	4229	6351	SO:0001583	missense	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.579C>G	3.37:g.195935261G>C	ENSP00000296326:p.Ile193Met		A8MSY6|B3KVI1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I193M	ENST00000296326.3	37	c.579	CCDS43190.1	3	.	.	.	.	.	.	.	.	.	.	g	4.600	0.111523	0.08831	.	.	ENSG00000163958	ENST00000296326	T	0.26957	1.7	5.6	-5.67	0.02444	.	0.949522	0.08807	N	0.890832	T	0.12561	0.0305	L	0.31476	0.935	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.28902	-1.0029	10	0.29301	T	0.29	-11.4383	1.7436	0.02958	0.307:0.3658:0.1604:0.1668	.	193	Q8WVZ1	ZDH19_HUMAN	M	193	ENSP00000296326:I193M	ENSP00000296326:I193M	I	-	3	3	ZDHHC19	197419658	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.832000	0.04400	-1.332000	0.02249	-2.519000	0.00185	ATC	ZDHHC19	-	NULL		0.667	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	G	NM_144637		195935261	-1	no_errors	ENST00000296326	ensembl	human	known	70_37	missense	SNP	0.032	C	C	195935261	G	C	195935261	3	2	160	1	0	0	0	0	1	0	0	0	17639	1048	37	1	366	1	ZDHHC19	3	195935261	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	482144	195935261	2087169	580	28853										
TCTEX1D2	255758	genome.wustl.edu	37	chr3	196043031	196043031	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgaggcatttcttctggaGaatattcagcatttgccagt	10	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196043031G>C	ENST00000325318.5	-	2	320	c.185C>G	c.(184-186)tCt>tGt	p.S62C	TM4SF19-AS1_ENST00000444939.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S62C|TM4SF19_ENST00000442633.1_3'UTR|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	62										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCTTCTGGAGAATATTCAGC	0.378																																																	0													137	125	129					3																	196043031		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.185C>G	3.37:g.196043031G>C	ENSP00000324323:p.Ser62Cys		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S62C	ENST00000325318.5	37	c.185	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737826	0.30774	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.32272	1.46	5.21	-0.256	0.12984	.	0.357554	0.19667	U	0.108854	T	0.26955	0.0660	M	0.72353	2.195	0.31874	N	0.619361	B	0.09022	0.002	B	0.18263	0.021	T	0.16958	-1.0385	10	0.52906	T	0.07	4.9027	4.1029	0.10023	0.4416:0.0:0.3883:0.1701	.	62	Q8WW35	TC1D2_HUMAN	C	62	ENSP00000324323:S62C	ENSP00000324323:S62C	S	-	2	0	TCTEX1D2	197527428	0.098000	0.21812	0.568000	0.28447	0.789000	0.44602	0.506000	0.22658	0.206000	0.20587	0.561000	0.74099	TCT	TCTEX1D2	-	pfam_Tctex		0.378	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196043031	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	0.569	C	C	196043031	G	C	196043031	3	2	160	1	0	0	0	0	1	0	0	0	15750	942	33	1	259	1	TCTEX1D2	3	196043031	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	107770	196043031	1979399	581	28854										
UBXN7	26043	genome.wustl.edu	37	chr3	196088738	196088738	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagtttagcttgctctggaaGagtgatctgttccctttttc	9	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196088738G>A	ENST00000296328.4	-	10	1359	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F	UBXN7_ENST00000428095.1_Missense_Mutation_p.L267F|UBXN7_ENST00000535858.1_Missense_Mutation_p.L281F	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	429	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGCTCTGGAAGAGTGATCTGT	0.433																																																	0													132	122	125					3																	196088738		1884	4112	5996	SO:0001583	missense	26043			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"UBX domain containing"	29119	protein-coding gene	gene with protein product			"UBX domain containing 7"	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1285C>T	3.37:g.196088738G>A	ENSP00000296328:p.Leu429Phe		D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX	p.L429F	ENST00000296328.4	37	c.1285	CCDS43191.1	3	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062564	0.55432	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.19	5.19	0.71726	UBX (3);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	N	0.03177	-0.4	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.40887	-0.9539	9	0.02654	T	1	-12.1295	9.7681	0.40574	0.154:0.0:0.846:0.0	.	429	O94888	UBXN7_HUMAN	F	429;267;281	.	ENSP00000296328:L429F	L	-	1	0	UBXN7	197573135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.258000	0.43249	2.593000	0.87608	0.655000	0.94253	CTT	UBXN7	-	pfam_UBX,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX		0.433	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7	HGNC	protein_coding	OTTHUMT00000340938.2	G	XM_087353		196088738	-1	no_errors	ENST00000296328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	196088738	G	A	196088738	3	1	160	1	0	0	0	0	1	0	0	0	16949	942	33	1	192	1	UBXN7	3	196088738	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	45707	196088738	1933692	582	28855										
RNF168	165918	genome.wustl.edu	37	chr3	196210737	196210737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaattcaagggagaagccGagatacttccctcacagaaa	10	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196210737G>A	ENST00000318037.3	-	4	1178	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	195					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GGGAGAAGCCGAGATACTTCC	0.328																																																	0													177	179	178					3																	196210737		2203	4300	6503	SO:0001583	missense	165918			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.584C>T	3.37:g.196210737G>A	ENSP00000320898:p.Ser195Leu		Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S195L	ENST00000318037.3	37	c.584	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	G	0.182	-1.061291	0.01950	.	.	ENSG00000163961	ENST00000318037	T	0.06218	3.33	5.85	0.362	0.16113	.	0.869573	0.09768	N	0.758315	T	0.02083	0.0065	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48625	-0.9019	10	0.14252	T	0.57	1.5839	9.4084	0.38475	0.606:0.0:0.394:0.0	.	195	Q8IYW5	RN168_HUMAN	L	195	ENSP00000320898:S195L	ENSP00000320898:S195L	S	-	2	0	RNF168	197695134	0.000000	0.05858	0.069000	0.20011	0.104000	0.19210	0.066000	0.14489	0.078000	0.16900	-0.982000	0.02568	TCG	RNF168	-	NULL		0.328	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	G	NM_152617		196210737	-1	no_errors	ENST00000318037	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196210737	G	A	196210737	3	1	160	1	0	0	0	0	1	0	0	0	13489	1059	37	1	1143	1	RNF168	3	196210737	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	121999	196210737	1811693	583	28856										
PAK2	5062	genome.wustl.edu	37	chr3	196528862	196528862	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgattttgagcacaccatCcatgttggctttgatgctgt	9	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196528862C>T	ENST00000327134.3	+	3	574	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	84	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGCACACCATCCATGTTGGCT	0.388																																																	0													214	208	210					3																	196528862		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.252C>T	3.37:g.196528862C>T			Q13154|Q6ISC3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I84	ENST00000327134.3	37	c.252	CCDS3321.1	3																																																																																			PAK2	-	pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd		0.388	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK2	HGNC	protein_coding	OTTHUMT00000340548.1	C	NM_002577		196528862	1	no_errors	ENST00000327134	ensembl	human	known	70_37	silent	SNP	0.996	T	T	196528862	C	T	196528862	2	4	160	1	0	0	0	0	0	0	0	1	11425	845	30	1		1	PAK2	3	196528862	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	318125	196528862	1493568	584	28857										
PIGZ	80235	genome.wustl.edu	37	chr3	196674919	196674919	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaggttcctggatgtagcGgggctggagaaataccagct	14	8	0	1	rs553144653		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:196674919G>T	ENST00000412723.1	-	3	995	c.849C>A	c.(847-849)ccC>ccA	p.P283P		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	283					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGGATGTAGCGGGGCTGGAGA	0.602																																																	0													98	104	102					3																	196674919		2203	4300	6503	SO:0001819	synonymous_variant	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.849C>A	3.37:g.196674919G>T			Q9H9G6	Silent	SNP	pfam_GPI_mannosylTrfase	p.P283	ENST00000412723.1	37	c.849	CCDS3324.1	3																																																																																			PIGZ	-	pfam_GPI_mannosylTrfase		0.602	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGZ	HGNC	protein_coding	OTTHUMT00000340486.2	G	NM_025163		196674919	-1	no_errors	ENST00000412723	ensembl	human	known	70_37	silent	SNP	0.000	T	T	196674919	G	T	196674919	2	4	160	1	0	0	0	0	0	0	0	1	11929	1103	39	2		2	PIGZ	3	196674919	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	146057	196674919	1347511	585	28858										
BDH1	622	genome.wustl.edu	37	chr3	197239047	197239047	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgatggcctgaatgctctCagggctgtaaaggctggtgg	17	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197239047C>T	ENST00000392378.2	-	7	1061	c.751G>A	c.(751-753)Gag>Aag	p.E251K	BDH1_ENST00000392379.1_Missense_Mutation_p.E251K|BDH1_ENST00000441275.1_Missense_Mutation_p.E164K|BDH1_ENST00000358186.2_Missense_Mutation_p.E251K	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	251					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TGAATGCTCTCAGGGCTGTAA	0.567																																																	0													79	70	73					3																	197239047		2203	4300	6503	SO:0001583	missense	622			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.751G>A	3.37:g.197239047C>T	ENSP00000376183:p.Glu251Lys		D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E251K	ENST00000392378.2	37	c.751	CCDS3328.1	3	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593724	0.66219	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746	D;D;D;D;T	0.92965	-3.14;-3.14;-3.14;-3.14;-1.38	5.6	3.81	0.43845	NAD(P)-binding domain (1);	0.045500	0.85682	D	0.000000	D	0.91928	0.7444	M	0.74546	2.27	0.58432	D	0.999993	P	0.47910	0.902	P	0.47251	0.542	D	0.89703	0.3906	10	0.39692	T	0.17	.	10.408	0.44276	0.0:0.8401:0.0:0.1599	.	251	Q02338	BDH_HUMAN	K	251;251;251;164;164	ENSP00000376183:E251K;ENSP00000350914:E251K;ENSP00000376184:E251K;ENSP00000411014:E164K;ENSP00000387648:E164K	ENSP00000350914:E251K	E	-	1	0	BDH1	198723444	1.000000	0.71417	0.710000	0.30468	0.882000	0.50991	4.974000	0.63771	0.848000	0.35191	0.591000	0.81541	GAG	BDH1	-	NULL		0.567	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH1	HGNC	protein_coding	OTTHUMT00000340267.1	C	NM_004051		197239047	-1	no_errors	ENST00000358186	ensembl	human	known	70_37	missense	SNP	0.994	T	T	197239047	C	T	197239047	3	4	160	1	0	0	0	0	1	0	0	0	1391	835	29	1	284	1	BDH1	3	197239047	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	564128	197239047	783383	586	28859										
KIAA0226	9711	genome.wustl.edu	37	chr3	197408081	197408081	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagagaggatcattccagatCttaatgagcaggtccttgga	11	7	2	3	rs370027191		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197408081C>G	ENST00000296343.5	-	16	2348	c.2349G>C	c.(2347-2349)aaG>aaC	p.K783N	KIAA0226_ENST00000273582.5_Missense_Mutation_p.K738N|KIAA0226_ENST00000389665.5_Missense_Mutation_p.K808N	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	783					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCCAGATCTTAATGAGCA	0.522																																					Esophageal Squamous(3;167 355 3763 15924)												0													148	142	144					3																	197408081		2037	4222	6259	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2349G>C	3.37:g.197408081C>G	ENSP00000296343:p.Lys783Asn		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.K783N	ENST00000296343.5	37	c.2349	CCDS43195.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.31|19.31|19.31	3.802260|3.802260|3.802260	0.70682|0.70682|0.70682	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	.|.|.	.|.|.	.|.|.	4.55|4.55|4.55	4.55|4.55|4.55	0.56014|0.56014|0.56014	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.67192|0.67192|0.67192	0.2867|0.2867|0.2867	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;B;D|.	.|0.89917|.	.|1.0;0.401;0.986|.	.|D;B;D|.	.|0.91635|.	.|0.999;0.322;0.923|.	T|T|T	0.64437|0.64437|0.64437	-0.6408|-0.6408|-0.6408	5|9|5	.|0.52906|.	.|T|.	.|0.07|.	.|.|.	16.8405|16.8405|16.8405	0.85967|0.85967|0.85967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|808;738;783|.	.|Q92622-3;Q92622-2;Q92622|.	.|.;.;RUBIC_HUMAN|.	H|N|T	745|738;783;808|567	.|.|.	.|ENSP00000273582:K738N|.	D|K|R	-|-|-	1|3|2	0|2|0	KIAA0226|KIAA0226|KIAA0226	198892478|198892478|198892478	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	4.700000|4.700000|4.700000	0.61803|0.61803|0.61803	2.523000|2.523000|2.523000	0.85059|0.85059|0.85059	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAT|AAG|AGA	KIAA0226	-	NULL		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	C	XM_032901		197408081	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	1.000	G	G	197408081	C	G	197408081	3	3	160	1	0	0	0	0	1	0	0	0	8182	912	32	1	589	1	KIAA0226	3	197408081	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	169034	197408081	614349	587	28860										
KIAA0226	9711	genome.wustl.edu	37	chr3	197408162	197408162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaacccggctggggatggcCatctgggcattctcgtggca	15	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197408162C>G	ENST00000296343.5	-	16	2267	c.2268G>C	c.(2266-2268)atG>atC	p.M756I	KIAA0226_ENST00000273582.5_Missense_Mutation_p.M711I|KIAA0226_ENST00000389665.5_Missense_Mutation_p.M781I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	756					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGGGATGGCCATCTGGGCAT	0.522																																					Esophageal Squamous(3;167 355 3763 15924)												0													104	103	104					3																	197408162		2023	4206	6229	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2268G>C	3.37:g.197408162C>G	ENSP00000296343:p.Met756Ile		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.M756I	ENST00000296343.5	37	c.2268	CCDS43195.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.84|11.84|11.84	1.758210|1.758210|1.758210	0.31137|0.31137|0.31137	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	.|.|.	.|.|.	.|.|.	5.48|5.48|5.48	4.61|4.61|4.61	0.57282|0.57282|0.57282	.|.|.	.|0.289804|.	.|0.39475|.	.|N|.	.|0.001347|.	T|T|T	0.27697|0.27697|0.27697	0.0681|0.0681|0.0681	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.31713|0.31713|0.31713	N|N|N	0.63924|0.63924|0.63924	.|B;B;B|.	.|0.20550|.	.|0.046;0.0;0.034|.	.|B;B;B|.	.|0.23716|.	.|0.029;0.004;0.048|.	T|T|T	0.29427|0.29427|0.29427	-1.0012|-1.0012|-1.0012	5|9|5	.|0.30854|.	.|T|.	.|0.27|.	.|.|.	5.2495|5.2495|5.2495	0.15515|0.15515|0.15515	0.2713:0.5744:0.0:0.1543|0.2713:0.5744:0.0:0.1543|0.2713:0.5744:0.0:0.1543	.|.|.	.|781;711;756|.	.|Q92622-3;Q92622-2;Q92622|.	.|.;.;RUBIC_HUMAN|.	R|I|S	718|711;756;781|540	.|.|.	.|ENSP00000273582:M711I|.	G|M|W	-|-|-	1|3|2	0|0|0	KIAA0226|KIAA0226|KIAA0226	198892559|198892559|198892559	0.090000|0.090000|0.090000	0.21635|0.21635|0.21635	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.825000|0.825000|0.825000	0.46686|0.46686|0.46686	-0.381000|-0.381000|-0.381000	0.07417|0.07417|0.07417	1.465000|1.465000|1.465000	0.48006|0.48006|0.48006	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	GGC|ATG|TGG	KIAA0226	-	NULL		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	C	XM_032901		197408162	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	1.000	G	G	197408162	C	G	197408162	3	3	160	1	0	0	0	0	1	0	0	0	8182	594	21	4	670	4	KIAA0226	3	197408162	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	81	197408162	614268	588	28861										
KIAA0226	9711	genome.wustl.edu	37	chr3	197410221	197410221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggacaagccactccagctccGaggcggctggaagctgcatc	13	14	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197410221G>A	ENST00000296343.5	-	13	1936	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	KIAA0226_ENST00000273582.5_Missense_Mutation_p.S601L|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S671L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	646					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCAGCTCCGAGGCGGCTGG	0.617																																					Esophageal Squamous(3;167 355 3763 15924)												0													58	64	62					3																	197410221		1972	4151	6123	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1937C>T	3.37:g.197410221G>A	ENSP00000296343:p.Ser646Leu		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.S646L	ENST00000296343.5	37	c.1937	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.117434|5.117434	0.94385|0.94385	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.68979|0.68979	0.3060|0.3060	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.91635	.|0.999;0.98;0.998	T|T	0.66069|0.66069	-0.6015|-0.6015	5|10	.|0.35671	.|T	.|0.21	.|.	19.3188|19.3188	0.94229|0.94229	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|671;601;646	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	W|L	430|601;646;671	.|ENSP00000273582:S601L;ENSP00000296343:S646L;ENSP00000374316:S671L	.|ENSP00000273582:S601L	R|S	-|-	1|2	2|0	KIAA0226|KIAA0226	198894618|198894618	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.685000|0.685000	0.39939|0.39939	9.824000|9.824000	0.99380|0.99380	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	CGG|TCG	KIAA0226	-	NULL		0.617	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	G	XM_032901		197410221	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	1.000	A	A	197410221	G	A	197410221	3	1	160	1	0	0	0	0	1	0	0	0	8182	1059	37	1	1013	1	KIAA0226	3	197410221	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2059	197410221	612209	589	28862										
LRCH3	84859	genome.wustl.edu	37	chr3	197574839	197574839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgccctgcagtatgaggagGagaaaataaggaccaagcag	13	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr3:197574839G>C	ENST00000425562.2	+	12	1477	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	LRCH3_ENST00000334859.4_Missense_Mutation_p.E493Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E465Q|LRCH3_ENST00000438796.2_Missense_Mutation_p.E493Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E339Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E88Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	493						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTATGAGGAGGAGAAAATAAG	0.512																																																	0													116	107	110					3																	197574839		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1477G>C	3.37:g.197574839G>C	ENSP00000393579:p.Glu493Gln		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E493Q	ENST00000425562.2	37	c.1477		3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470826	0.84533	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660	T;T;T;T;T;T;T	0.70164	1.79;1.16;1.07;2.05;1.8;0.47;-0.46	5.49	5.49	0.81192	.	0.107189	0.64402	D	0.000009	T	0.73528	0.3598	L	0.34521	1.04	0.38463	D	0.947264	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;P	0.85130	0.982;0.997;0.992;0.974;0.894	T	0.71192	-0.4665	10	0.25751	T	0.34	-12.6355	17.2024	0.86909	0.0:0.0:1.0:0.0	.	339;465;493;493;493	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	Q	493;339;465;493;493;88;4	ENSP00000399751:E493Q;ENSP00000394609:E339Q;ENSP00000394965:E465Q;ENSP00000334375:E493Q;ENSP00000393579:E493Q;ENSP00000439083:E88Q;ENSP00000395309:E4Q	ENSP00000334375:E493Q	E	+	1	0	LRCH3	199059236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.250000	0.72435	2.588000	0.87417	0.644000	0.83932	GAG	LRCH3	-	NULL		0.512	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	G	NM_032773		197574839	1	no_errors	ENST00000438796	ensembl	human	known	70_37	missense	SNP	1.000	C	C	197574839	G	C	197574839	3	2	160	1	0	0	0	0	1	0	0	0	8957	1175	41	1	1523	1	LRCH3	3	197574839	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	164618	197574839	447591	590	28863										
CPLX1	10815	genome.wustl.edu	37	chr4	786358	786358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgtctgggtccttctcctCgtcaccccccagcatcttcc	8	19	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:786358C>G	ENST00000304062.6	-	3	301	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	CPLX1_ENST00000505203.1_Missense_Mutation_p.E24Q	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	24					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTCCTCGTCACCCCCC	0.642																																																	0													66	71	69					4																	786358		2202	4297	6499	SO:0001583	missense	10815			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.70G>C	4.37:g.786358C>G	ENSP00000305613:p.Glu24Gln		A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	pfam_Synaphin	p.E24Q	ENST00000304062.6	37	c.70	CCDS46995.1	4	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022828	0.75275	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	T	0.79161	0.4399	M	0.85945	2.785	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77557	0.99;0.99	T	0.81448	-0.0928	8	0.48119	T	0.1	.	13.0899	0.59162	0.0:1.0:0.0:0.0	.	24;24	D6RI11;O14810	.;CPLX1_HUMAN	Q	24;24;9;107	.	ENSP00000305613:E24Q	E	-	1	0	CPLX1	776358	1.000000	0.71417	0.990000	0.47175	0.758000	0.43043	5.306000	0.65756	2.009000	0.58944	0.537000	0.68136	GAG	CPLX1	-	pfam_Synaphin		0.642	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX1	HGNC	protein_coding	OTTHUMT00000358830.1	C			786358	-1	no_errors	ENST00000304062	ensembl	human	known	70_37	missense	SNP	1.000	G	G	786358	C	G	786358	3	3	160	1	0	0	0	0	1	0	0	0	3809	893	31	1	342	1	CPLX1	4	786358	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		786358	190367918	591	28864										
GAK	2580	genome.wustl.edu	37	chr4	877234	877234	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagcgctgactccacaccttCtgctgggaatgacatcactg	10	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:877234C>T	ENST00000314167.4	-	13	1383	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	GAK_ENST00000511163.1_Missense_Mutation_p.E346K	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	425	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCCACACCTTCTGCTGGGAAT	0.592																																																	0													168	143	151					4																	877234		2203	4300	6503	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1273G>A	4.37:g.877234C>T	ENSP00000314499:p.Glu425Lys		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.E425K	ENST00000314167.4	37	c.1273	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920155	0.73098	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98531	-4.98;-4.98	5.34	5.34	0.76211	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.999	D;D;D;D	0.76071	0.985;0.948;0.987;0.971	D	0.99827	1.1051	10	0.72032	D	0.01	-30.6774	16.5519	0.84474	0.0:1.0:0.0:0.0	.	346;346;425;321	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	K	425;346	ENSP00000314499:E425K;ENSP00000421361:E346K	ENSP00000314499:E425K	E	-	1	0	GAK	867234	1.000000	0.71417	0.101000	0.21167	0.134000	0.20937	7.656000	0.83736	2.498000	0.84270	0.591000	0.81541	GAA	GAK	-	pfscan_Phosphatase_tensin-typ		0.592	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	C	NM_005255		877234	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	missense	SNP	0.995	T	T	877234	C	T	877234	3	4	160	1	0	0	0	0	1	0	0	0	6214	922	32	1	2726	1	GAK	4	877234	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	90876	877234	190277042	592	28865										
ZFYVE28	57732	genome.wustl.edu	37	chr4	2307235	2307235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgttccagcgtgtgcagctCctcctccgtcagcgtctgca	10	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2307235C>T	ENST00000290974.2	-	8	1171	c.832G>A	c.(832-834)Gag>Aag	p.E278K	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E248K|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E208K	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	278					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGTGCAGCTCCTCCTCCGTC	0.622																																																	0													43	39	40					4																	2307235		2203	4299	6502	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.832G>A	4.37:g.2307235C>T	ENSP00000290974:p.Glu278Lys		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E278K	ENST00000290974.2	37	c.832	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.278305	0.95459	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.28069	1.63;1.63;1.63	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.61657	-0.7018	10	0.87932	D	0	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	248;278	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	K	278;248;208	ENSP00000290974:E278K;ENSP00000425706:E248K;ENSP00000426299:E208K	ENSP00000290974:E278K	E	-	1	0	ZFYVE28	2277033	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	7.123000	0.77176	2.581000	0.87130	0.585000	0.79938	GAG	ZFYVE28	-	NULL		0.622	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	C	XM_035371		2307235	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2307235	C	T	2307235	3	4	160	1	0	0	0	0	1	0	0	0	17700	864	30	1	1855	1	ZFYVE28	4	2307235	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1430001	2307235	188847041	593	28866										
FAM193A	8603	genome.wustl.edu	37	chr4	2632837	2632837	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttcatctccctcctgcttGaggagtacggcgccctctgc	10	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2632837G>A	ENST00000324666.5	+	3	457	c.106G>A	c.(106-108)Gag>Aag	p.E36K	FAM193A_ENST00000382839.3_Missense_Mutation_p.E36K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E36K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E36K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E36K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	36										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CCTCCTGCTTGAGGAGTACGG	0.617																																																	0													55	55	55					4																	2632837		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.106G>A	4.37:g.2632837G>A	ENSP00000324587:p.Glu36Lys		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.E36K	ENST00000324666.5	37	c.106	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.818450	0.96982	.	.	ENSG00000125386	ENST00000509050;ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.37584	1.2;1.61;1.19;1.22	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.77557	0.99;0.99;0.99;0.962;0.99	T	0.59064	-0.7524	10	0.66056	D	0.02	-37.8248	18.5119	0.90920	0.0:0.0:1.0:0.0	.	36;36;36;36;36	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	36	ENSP00000372290:E36K;ENSP00000324587:E36K;ENSP00000443617:E36K;ENSP00000427505:E36K	ENSP00000324587:E36K	E	+	1	0	FAM193A	2602635	1.000000	0.71417	0.963000	0.40424	0.861000	0.49209	9.422000	0.97458	2.608000	0.88229	0.655000	0.94253	GAG	FAM193A	-	NULL		0.617	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2632837	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2632837	G	A	2632837	3	1	160	1	0	0	0	0	1	0	0	0	5539	1291	45	1	108	1	FAM193A	4	2632837	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	325602	2632837	188521439	594	28867										
NOP14	8602	genome.wustl.edu	37	chr4	2951703	2951703	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctctggtagcttttccagCtctttccttgccgcttatca	7	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:2951703C>G	ENST00000314262.6	-	8	1288	c.1240G>C	c.(1240-1242)Gct>Cct	p.A414P	NOP14_ENST00000502735.1_Missense_Mutation_p.A414P|NOP14_ENST00000416614.2_Missense_Mutation_p.A414P|NOP14_ENST00000398071.4_Missense_Mutation_p.A414P|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	414					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GCTTTTCCAGCTCTTTCCTTG	0.542																																																	0													281	276	278					4																	2951703		2203	4300	6503	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1240G>C	4.37:g.2951703C>G	ENSP00000315674:p.Ala414Pro		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.A414P	ENST00000314262.6	37	c.1240	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809302	0.50421	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.87	0.0896	0.14460	.	0.194715	0.43919	D	0.000503	T	0.39963	0.1098	M	0.74881	2.28	0.19575	N	0.999962	D;D;P	0.58970	0.97;0.984;0.939	P;P;P	0.57846	0.828;0.761;0.602	T	0.34700	-0.9818	10	0.87932	D	0	0.1356	1.5806	0.02633	0.1368:0.3283:0.1335:0.4015	.	207;414;414	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	P	414;414;414;414;313	ENSP00000405068:A414P;ENSP00000315674:A414P;ENSP00000427415:A414P;ENSP00000381146:A414P	ENSP00000315674:A414P	A	-	1	0	NOP14	2921501	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.146000	0.16180	-0.367000	0.08052	0.655000	0.94253	GCT	NOP14	-	pfam_Nop14		0.542	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	C	NM_003703		2951703	-1	no_errors	ENST00000416614	ensembl	human	known	70_37	missense	SNP	0.001	G	G	2951703	C	G	2951703	3	3	160	1	0	0	0	0	1	0	0	0	10560	797	28	4	1377	4	NOP14	4	2951703	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	318866	2951703	188202573	595	28868										
HTT	3064	genome.wustl.edu	37	chr4	3117082	3117082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtcaagctcccccaccattCggcggacagcggctggatca	11	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:3117082C>T	ENST00000355072.5	+	7	944	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	267					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCACCATTCGGCGGACAGC	0.468																																																	0													76	79	78					4																	3117082		2053	4213	6266	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.799C>T	4.37:g.3117082C>T	ENSP00000347184:p.Arg267Trp		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.R267W	ENST00000355072.5	37	c.799	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449090	0.84101	.	.	ENSG00000197386	ENST00000355072	T	0.79352	-1.26	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90113	0.4193	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	267	P42858	HD_HUMAN	W	267	ENSP00000347184:R267W	ENSP00000347184:R267W	R	+	1	2	HTT	3086880	1.000000	0.71417	0.964000	0.40570	0.638000	0.38207	4.402000	0.59722	2.803000	0.96430	0.650000	0.86243	CGG	HTT	-	superfamily_ARM-type_fold		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	C	NM_002111		3117082	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	0.997	T	T	3117082	C	T	3117082	3	4	160	1	0	0	0	0	1	0	0	0	7477	875	31	1	825	1	HTT	4	3117082	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	165379	3117082	188037194	596	28869										
HTT	3064	genome.wustl.edu	37	chr4	3201506	3201506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccactaggctgttccgcagtGatggctgtggcggcagtttc	14	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:3201506G>A	ENST00000355072.5	+	41	5561	c.5416G>A	c.(5416-5418)Gat>Aat	p.D1806N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1806					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTCCGCAGTGATGGCTGTGG	0.542																																																	0													83	88	86					4																	3201506		2046	4200	6246	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5416G>A	4.37:g.3201506G>A	ENSP00000347184:p.Asp1806Asn		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D1806N	ENST00000355072.5	37	c.5416	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541362	0.27563	.	.	ENSG00000197386	ENST00000355072	T	0.05513	3.43	6.04	6.04	0.98038	.	0.168048	0.53938	D	0.000060	T	0.09818	0.0241	M	0.63428	1.95	0.48571	D	0.999677	B	0.16166	0.016	B	0.15484	0.013	T	0.07404	-1.0774	10	0.30078	T	0.28	.	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	1806	P42858	HD_HUMAN	N	1806	ENSP00000347184:D1806N	ENSP00000347184:D1806N	D	+	1	0	HTT	3171304	1.000000	0.71417	0.041000	0.18516	0.288000	0.27193	7.550000	0.82173	2.873000	0.98535	0.561000	0.74099	GAT	HTT	-	NULL		0.542	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3201506	1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	0.974	A	A	3201506	G	A	3201506	3	1	160	1	0	0	0	0	1	0	0	0	7477	1290	45	1	5578	1	HTT	4	3201506	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	84424	3201506	187952770	597	28870										
OTOP1	133060	genome.wustl.edu	37	chr4	4198908	4198908	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attaccgaaatattgcagagGaacaagaaggctgcaatatt	9	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:4198908G>C	ENST00000296358.4	-	5	1677	c.1653C>G	c.(1651-1653)ttC>ttG	p.F551L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	551					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TATTGCAGAGGAACAAGAAGG	0.443																																																	0													57	63	61					4																	4198908		2203	4300	6503	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1653C>G	4.37:g.4198908G>C	ENSP00000296358:p.Phe551Leu		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.F551L	ENST00000296358.4	37	c.1653	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	G	5.668	0.307842	0.10733	.	.	ENSG00000163982	ENST00000296358	T	0.11277	2.79	4.92	2.2	0.27929	.	0.215304	0.47455	D	0.000221	T	0.03011	0.0089	N	0.02213	-0.635	0.52099	D	0.999948	B	0.23650	0.089	B	0.25884	0.064	T	0.41893	-0.9483	10	0.02654	T	1	-10.4777	5.9141	0.19045	0.2228:0.0:0.6434:0.1338	.	551	Q7RTM1	OTOP1_HUMAN	L	551	ENSP00000296358:F551L	ENSP00000296358:F551L	F	-	3	2	OTOP1	4249809	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	1.598000	0.36740	0.205000	0.20568	0.508000	0.49915	TTC	OTOP1	-	pfam_Otopetrin		0.443	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	G	NM_177998		4198908	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	0.998	C	C	4198908	G	C	4198908	3	2	160	1	0	0	0	0	1	0	0	0	11329	1165	41	1	193	1	OTOP1	4	4198908	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	997402	4198908	186955368	598	28871										
PPP2R2C	5522	genome.wustl.edu	37	chr4	6382809	6382809	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtggttgaactcaacggtaGagatgatgtcagctgggagg	16	5	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:6382809G>C	ENST00000382599.4	-	2	299	c.83C>G	c.(82-84)tCt>tGt	p.S28C	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.S21C|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.S28C|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.S21C|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.S11C			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	28					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTCAACGGTAGAGATGATGTC	0.632																																																	0													45	35	39					4																	6382809		2202	4300	6502	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.83C>G	4.37:g.6382809G>C	ENSP00000372042:p.Ser28Cys		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.S28C	ENST00000382599.4	37	c.83		4	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896537	0.72639	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.26	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.74460	-0.3658	10	0.87932	D	0	-26.9624	16.2135	0.82186	0.0:0.0:1.0:0.0	.	21;124;28;11;28	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	C	28;21;11;28;21	ENSP00000335083:S28C;ENSP00000423649:S21C;ENSP00000422374:S11C;ENSP00000372042:S28C;ENSP00000425247:S21C	ENSP00000335083:S28C	S	-	2	0	PPP2R2C	6433710	1.000000	0.71417	0.961000	0.40146	0.566000	0.35808	8.754000	0.91642	2.372000	0.80975	0.561000	0.74099	TCT	PPP2R2C	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55		0.632	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6382809	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6382809	G	C	6382809	3	2	160	1	0	0	0	0	1	0	0	0	12413	942	33	1	1292	1	PPP2R2C	4	6382809	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2183901	6382809	184771467	599	28872										
KIAA0232	9778	genome.wustl.edu	37	chr4	6863938	6863938	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggagagttttggaggagactCtccagttagactctctccca	11	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:6863938C>G	ENST00000307659.5	+	7	2284	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S610C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	610							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GGAGGAGACTCTCCAGTTAGA	0.493																																																	0													110	101	104					4																	6863938		1921	4147	6068	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1829C>G	4.37:g.6863938C>G	ENSP00000303928:p.Ser610Cys		A7E2D2	Missense_Mutation	SNP	NULL	p.S610C	ENST00000307659.5	37	c.1829	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120116	0.56613	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79287	0.4420	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80551	-0.1332	9	0.87932	D	0	-18.9888	19.5863	0.95490	0.0:1.0:0.0:0.0	.	610	Q92628	K0232_HUMAN	C	610	.	ENSP00000303928:S610C	S	+	2	0	KIAA0232	6914839	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	5.511000	0.67024	2.621000	0.88768	0.655000	0.94253	TCT	KIAA0232	-	NULL		0.493	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	C	NM_014743		6863938	1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6863938	C	G	6863938	3	3	160	1	0	0	0	0	1	0	0	0	8183	913	32	1	1847	1	KIAA0232	4	6863938	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	481129	6863938	184290338	600	28873										
SH3TC1	54436	genome.wustl.edu	37	chr4	8233776	8233776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcgaggcccagtgtgtcatCtaccatgagctccagctctc	10	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:8233776C>G	ENST00000245105.3	+	13	3091	c.3024C>G	c.(3022-3024)atC>atG	p.I1008M	SH3TC1_ENST00000539824.1_Missense_Mutation_p.I932M	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1008										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTGTGTCATCTACCATGAGC	0.637																																					NSCLC(145;2298 2623 35616 37297)												0													74	71	72					4																	8233776		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3024C>G	4.37:g.8233776C>G	ENSP00000245105:p.Ile1008Met		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.I1008M	ENST00000245105.3	37	c.3024	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282508	0.59867	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.77229	-1.08;-1.08	4.89	4.89	0.63831	Tetratricopeptide-like helical (1);	0.422063	0.22586	N	0.058148	T	0.79656	0.4483	M	0.66939	2.045	0.32643	N	0.520486	P	0.43973	0.823	P	0.47044	0.535	D	0.84544	0.0640	10	0.44086	T	0.13	-16.0346	12.566	0.56310	0.0:0.9192:0.0:0.0808	.	1008	Q8TE82	S3TC1_HUMAN	M	746;1008;932;837	ENSP00000245105:I1008M;ENSP00000441045:I932M	ENSP00000245105:I1008M	I	+	3	3	SH3TC1	8284676	1.000000	0.71417	0.994000	0.49952	0.867000	0.49689	1.608000	0.36847	2.286000	0.76751	0.456000	0.33151	ATC	SH3TC1	-	NULL		0.637	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8233776	1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8233776	C	G	8233776	3	3	160	1	0	0	0	0	1	0	0	0	14291	903	32	1	3070	1	SH3TC1	4	8233776	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1369838	8233776	182920500	601	28874										
CLNK	116449	genome.wustl.edu	37	chr4	10515215	10515215	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacagggctgcatgcctcctCtatgatctggaaaggttaaa	10	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:10515215C>T	ENST00000226951.6	-	16	1018	c.779G>A	c.(778-780)aGa>aAa	p.R260K	CLNK_ENST00000515667.1_5'UTR	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	260					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CATGCCTCCTCTATGATCTGG	0.502																																					GBM(87;402 1286 6949 13902 35851)												0													54	51	52					4																	10515215		1972	4175	6147	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.779G>A	4.37:g.10515215C>T	ENSP00000226951:p.Arg260Lys		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R260K	ENST00000226951.6	37	c.779	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	0.584	-0.835671	0.02713	.	.	ENSG00000109684	ENST00000226951;ENST00000429087	T	0.20332	2.08	4.31	-2.17	0.07059	.	1.312740	0.05109	N	0.488497	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.02654	T	1	-2.351	5.0548	0.14527	0.0:0.3198:0.3814:0.2988	.	260	Q7Z7G1	CLNK_HUMAN	K	260;224	ENSP00000226951:R260K	ENSP00000226951:R260K	R	-	2	0	CLNK	10124313	0.000000	0.05858	0.003000	0.11579	0.071000	0.16799	-0.108000	0.10857	-0.377000	0.07930	-0.302000	0.09304	AGA	CLNK	-	NULL		0.502	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	C	NM_052964		10515215	-1	no_errors	ENST00000226951	ensembl	human	known	70_37	missense	SNP	0.006	T	T	10515215	C	T	10515215	3	4	160	1	0	0	0	0	1	0	0	0	3552	913	32	1	523	1	CLNK	4	10515215	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2281439	10515215	180639061	602	28875										
BOD1L	259282	genome.wustl.edu	37	chr4	13602970	13602970	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgctagtcacaatgccttCatcatcacaaggaccagcag	8	12	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:13602970C>T	ENST00000040738.5	-	10	5689	c.5554G>A	c.(5554-5556)Gaa>Aaa	p.E1852K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1852						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACAATGCCTTCATCATCACAA	0.468																																																	0													132	130	130					4																	13602970		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5554G>A	4.37:g.13602970C>T	ENSP00000040738:p.Glu1852Lys		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.E1852K	ENST00000040738.5	37	c.5554	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634205	0.87660	.	.	ENSG00000038219	ENST00000040738	T	0.18657	2.2	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000019	T	0.37705	0.1013	L	0.34521	1.04	0.45676	D	0.998598	D	0.89917	1.0	D	0.80764	0.994	T	0.11060	-1.0603	10	0.51188	T	0.08	-10.6211	18.7444	0.91787	0.0:1.0:0.0:0.0	.	1852	Q8NFC6	BOD1L_HUMAN	K	1852	ENSP00000040738:E1852K	ENSP00000040738:E1852K	E	-	1	0	BOD1L	13212068	1.000000	0.71417	0.963000	0.40424	0.848000	0.48234	5.110000	0.64622	2.422000	0.82143	0.561000	0.74099	GAA	BOD1L1	-	NULL		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13602970	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13602970	C	T	13602970	3	4	160	1	0	0	0	0	1	0	0	0	1484	835	29	1	3669	1	BOD1L	4	13602970	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3087755	13602970	177551306	603	28876										
LCORL	254251	genome.wustl.edu	37	chr4	17885383	17885383	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttgcagctgccagtccctGaatctgtcatattatataac	6	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:17885383G>A	ENST00000382226.5	-	7	1877	c.1769C>T	c.(1768-1770)tCa>tTa	p.S590L	LCORL_ENST00000382224.1_Missense_Mutation_p.S506L|LCORL_ENST00000539056.1_Intron|LCORL_ENST00000326877.4_Intron	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	590					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCAGTCCCTGAATCTGTCAT	0.413																																																	0													167	139	147					4																	17885383		692	1591	2283	SO:0001583	missense	254251				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.1769C>T	4.37:g.17885383G>A	ENSP00000371661:p.Ser590Leu		Q96NK1	Missense_Mutation	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.S590L	ENST00000382226.5	37	c.1769	CCDS54749.1	4	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260914	0.59431	.	.	ENSG00000178177	ENST00000382224;ENST00000382226	.	.	.	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000005	T	0.50154	0.1599	N	0.08118	0	0.54753	D	0.999987	.	.	.	.	.	.	T	0.61113	-0.7128	7	0.66056	D	0.02	.	18.1803	0.89776	0.0:0.0:1.0:0.0	.	.	.	.	L	506;590	.	ENSP00000371659:S506L	S	-	2	0	LCORL	17494481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.761000	0.85260	2.346000	0.79739	0.655000	0.94253	TCA	LCORL	-	NULL		0.413	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding		G	NM_153686		17885383	-1	no_errors	ENST00000382226	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17885383	G	A	17885383	3	1	160	1	0	0	0	0	1	0	0	0	8710	1294	45	1	228	1	LCORL	4	17885383	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4282413	17885383	173268893	604	28877										
GPR125	166647	genome.wustl.edu	37	chr4	22403111	22403111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcccacaaagaccacacaGgttaggaaaatatgaaagca	7	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:22403111G>A	ENST00000334304.5	-	16	2693	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	808					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGACCACACAGGTTAGGAAAA	0.383																																																	0													112	107	109					4																	22403111		2203	4300	6503	SO:0001819	synonymous_variant	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2424C>T	4.37:g.22403111G>A			Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.T808	ENST00000334304.5	37	c.2424	CCDS33964.1	4																																																																																			GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.383	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	G			22403111	-1	no_errors	ENST00000334304	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22403111	G	A	22403111	2	1	160	1	0	0	0	0	0	0	0	1	6658	987	35	4		4	GPR125	4	22403111	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4517728	22403111	168751165	605	28878										
DHX15	1665	genome.wustl.edu	37	chr4	24578195	24578195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttgttgaagctcgcaactCcttctccttttctttctccc	4	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:24578195C>G	ENST00000336812.4	-	2	334	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	60					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GCTCGCAActccttctccttt	0.483																																																	0													250	219	229					4																	24578195		2203	4300	6503	SO:0001583	missense	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.178G>C	4.37:g.24578195C>G	ENSP00000336741:p.Glu60Gln		Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E60Q	ENST00000336812.4	37	c.178	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720668	0.30503	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.50548	0.74	5.63	5.63	0.86233	.	0.404011	0.27379	N	0.019629	T	0.29061	0.0722	N	0.08118	0	0.45515	D	0.998475	B	0.19583	0.037	B	0.20955	0.032	T	0.19386	-1.0307	10	0.06236	T	0.91	-20.461	19.7096	0.96089	0.0:1.0:0.0:0.0	.	60	O43143	DHX15_HUMAN	Q	60;49	ENSP00000336741:E60Q	ENSP00000336741:E60Q	E	-	1	0	DHX15	24187293	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.322000	0.59215	2.652000	0.90054	0.655000	0.94253	GAG	DHX15	-	NULL		0.483	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	C	NM_001358		24578195	-1	no_errors	ENST00000336812	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24578195	C	G	24578195	3	3	160	1	0	0	0	0	1	0	0	0	4511	864	30	1	2261	1	DHX15	4	24578195	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2175084	24578195	166576081	606	28879										
TLR10	81793	genome.wustl.edu	37	chr4	38775583	38775583	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaatctgaccatccaaccatCatgacctctgaatatgtttc	5	12	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:38775583C>G	ENST00000308973.4	-	4	2234	c.1629G>C	c.(1627-1629)atG>atC	p.M543I	TLR10_ENST00000361424.2_Missense_Mutation_p.M543I|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.M543I|TLR10_ENST00000506111.1_Missense_Mutation_p.M543I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	543	LRRCT.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCCAACCATCATGACCTCTG	0.398																																																	0													91	90	91					4																	38775583		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1629G>C	4.37:g.38775583C>G	ENSP00000308925:p.Met543Ile		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom	p.M543I	ENST00000308973.4	37	c.1629	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753001	0.15778	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.32	4.48	0.54585	Cysteine-rich flanking region, C-terminal (1);	0.605342	0.14577	N	0.311093	T	0.18467	0.0443	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.20184	0.028	T	0.20638	-1.0269	10	0.51188	T	0.08	.	14.1491	0.65370	0.0:0.9273:0.0:0.0727	.	543	Q9BXR5	TLR10_HUMAN	I	543	ENSP00000308925:M543I;ENSP00000421483:M543I;ENSP00000354459:M543I;ENSP00000424923:M543I	ENSP00000308925:M543I	M	-	3	0	TLR10	38451978	0.004000	0.15560	0.731000	0.30826	0.661000	0.39034	1.782000	0.38654	1.242000	0.43836	0.585000	0.79938	ATG	TLR10	-	smart_Cys-rich_flank_reg_C,pirsf_Toll-like_receptor		0.398	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	C			38775583	-1	no_errors	ENST00000308973	ensembl	human	known	70_37	missense	SNP	0.292	G	G	38775583	C	G	38775583	3	3	160	1	0	0	0	0	1	0	0	0	15980	826	29	1	810	1	TLR10	4	38775583	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	14197388	38775583	152378693	607	28880										
TLR10	81793	genome.wustl.edu	37	chr4	38776233	38776233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattgtcaggttttctatgtCcattttggtcaaaagcaaat	7	6	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:38776233C>T	ENST00000308973.4	-	4	1584	c.979G>A	c.(979-981)Gac>Aac	p.D327N	TLR10_ENST00000361424.2_Missense_Mutation_p.D327N|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.D327N|TLR10_ENST00000506111.1_Missense_Mutation_p.D327N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	327					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTTTCTATGTCCATTTTGGTC	0.308																																																	0													93	96	95					4																	38776233		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.979G>A	4.37:g.38776233C>T	ENSP00000308925:p.Asp327Asn		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom	p.D327N	ENST00000308973.4	37	c.979	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898606	0.02472	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.99	4.15	0.48705	.	0.346876	0.20096	N	0.099322	T	0.58438	0.2122	N	0.04994	-0.135	0.25760	N	0.984957	B	0.02656	0.0	B	0.06405	0.002	T	0.48758	-0.9007	10	0.02654	T	1	.	6.21	0.20623	0.0:0.6691:0.0:0.3309	.	327	Q9BXR5	TLR10_HUMAN	N	327	ENSP00000308925:D327N;ENSP00000421483:D327N;ENSP00000354459:D327N;ENSP00000424923:D327N	ENSP00000308925:D327N	D	-	1	0	TLR10	38452628	0.003000	0.15002	0.998000	0.56505	0.916000	0.54674	-0.341000	0.07811	1.100000	0.41517	-0.237000	0.12165	GAC	TLR10	-	pirsf_Toll-like_receptor		0.308	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	C			38776233	-1	no_errors	ENST00000308973	ensembl	human	known	70_37	missense	SNP	0.997	T	T	38776233	C	T	38776233	3	4	160	1	0	0	0	0	1	0	0	0	15980	855	30	1	1460	1	TLR10	4	38776233	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	650	38776233	152378043	608	28881										
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984210	41984210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagtccctgtgctgggcctCgctgaaccagttggactctc	12	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:41984210C>T	ENST00000333141.5	+	1	498	c.401C>T	c.(400-402)tCg>tTg	p.S134L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGCTGGGCCTCGCTGAACCAG	0.557																																																	0													106	100	102					4																	41984210		2203	4300	6503	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.401C>T	4.37:g.41984210C>T	ENSP00000327796:p.Ser134Leu		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S134L	ENST00000333141.5	37	c.401	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169313	0.57584	.	.	ENSG00000182308	ENST00000333141	T	0.72167	-0.63	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.71581	2.175	0.41596	D	0.988826	D	0.61697	0.99	P	0.56474	0.799	T	0.79237	-0.1886	9	0.87932	D	0	.	.	.	.	.	134	Q3SXM0	DC4L1_HUMAN	L	134	ENSP00000327796:S134L	ENSP00000327796:S134L	S	+	2	0	DCAF4L1	41678967	1.000000	0.71417	0.921000	0.36526	0.545000	0.35147	4.398000	0.59697	0.635000	0.30488	0.313000	0.20887	TCG	DCAF4L1	-	superfamily_WD40_repeat_dom		0.557	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	C	NM_001029955		41984210	1	no_errors	ENST00000333141	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41984210	C	T	41984210	3	4	160	1	0	0	0	0	1	0	0	0	4276	893	31	1	403	1	DCAF4L1	4	41984210	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3207977	41984210	149170066	609	28882										
NIPAL1	152519	genome.wustl.edu	37	chr4	48037752	48037752	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgccattaaggagctgataGaatggaagccagtttacaaa	10	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48037752G>C	ENST00000295461.5	+	6	862	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	266						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GGAGCTGATAGAATGGAAGCC	0.403																																																	0													98	93	95					4																	48037752		2203	4300	6503	SO:0001583	missense	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.796G>C	4.37:g.48037752G>C	ENSP00000295461:p.Glu266Gln		B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.E266Q	ENST00000295461.5	37	c.796	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	G	3.441	-0.114150	0.06881	.	.	ENSG00000163293	ENST00000295461	D	0.90444	-2.67	5.64	3.86	0.44501	.	0.141476	0.48286	N	0.000193	D	0.85186	0.5639	L	0.38175	1.15	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.69993	-0.4994	9	.	.	.	.	12.5234	0.56073	0.0:0.3311:0.5515:0.1174	.	266	Q6NVV3	NIPA3_HUMAN	Q	266	ENSP00000295461:E266Q	.	E	+	1	0	NIPAL1	47732509	0.989000	0.36119	0.025000	0.17156	0.562000	0.35680	2.956000	0.49129	0.696000	0.31696	0.655000	0.94253	GAA	NIPAL1	-	pfam_Mg_trans_NIPA		0.403	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	G	NM_207330		48037752	1	no_errors	ENST00000295461	ensembl	human	known	70_37	missense	SNP	0.022	C	C	48037752	G	C	48037752	3	2	160	1	0	0	0	0	1	0	0	0	10448	943	33	1	818	1	NIPAL1	4	48037752	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6053542	48037752	143116524	610	28883										
SLC10A4	201780	genome.wustl.edu	37	chr4	48490485	48490485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgactctggtggtccttttCataatgaccggcactatgtt	10	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48490485C>G	ENST00000273861.4	+	3	1062	c.843C>G	c.(841-843)ttC>ttG	p.F281L	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGGTCCTTTTCATAATGACCG	0.443																																																	0													173	175	174					4																	48490485		2203	4300	6503	SO:0001583	missense	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.843C>G	4.37:g.48490485C>G	ENSP00000273861:p.Phe281Leu		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.F281L	ENST00000273861.4	37	c.843	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985330	0.53934	.	.	ENSG00000145248	ENST00000273861	T	0.13420	2.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.72894	2.215	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.00435	-1.1741	10	0.40728	T	0.16	-16.0927	20.0359	0.97557	0.0:1.0:0.0:0.0	.	281	Q96EP9	NTCP4_HUMAN	L	281	ENSP00000273861:F281L	ENSP00000273861:F281L	F	+	3	2	SLC10A4	48185242	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.636000	0.61339	2.805000	0.96524	0.655000	0.94253	TTC	SLC10A4	-	pfam_BilAc/Na_symport		0.443	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	C	NM_152679		48490485	1	no_errors	ENST00000273861	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48490485	C	G	48490485	3	3	160	1	0	0	0	0	1	0	0	0	14406	825	29	1	853	1	SLC10A4	4	48490485	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	452733	48490485	142663791	611	28884										
ZAR1	326340	genome.wustl.edu	37	chr4	48494963	48494963	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtcatcacaggtttacttCaaacagttttgcagaacttg	7	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48494963C>T	ENST00000327939.4	+	3	1105	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	355					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						AGGTTTACTTCAAACAGTTTT	0.398																																																	0													138	132	134					4																	48494963		2203	4300	6503	SO:0001819	synonymous_variant	326340			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 6"	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1065C>T	4.37:g.48494963C>T				Silent	SNP	superfamily_Znf_FYVE_PHD	p.F355	ENST00000327939.4	37	c.1065	CCDS3483.1	4																																																																																			ZAR1	-	superfamily_Znf_FYVE_PHD		0.398	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1	HGNC	protein_coding	OTTHUMT00000219927.3	C			48494963	1	no_errors	ENST00000327939	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48494963	C	T	48494963	2	4	160	1	0	0	0	0	0	0	0	1	17546	825	29	1		1	ZAR1	4	48494963	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4478	48494963	142659313	612	28885										
FRYL	285527	genome.wustl.edu	37	chr4	48588685	48588685	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgctcataccgtcaggaatCaaccttggaatcgcagcaat	8	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:48588685C>G	ENST00000503238.1	-	16	1700	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F	FRYL_ENST00000358350.4_Missense_Mutation_p.L567F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L567F|FRYL_ENST00000507711.1_Missense_Mutation_p.L567F|FRYL_ENST00000506685.1_Missense_Mutation_p.L273F			O94915	FRYL_HUMAN	FRY-like	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CGTCAGGAATCAACCTTGGAA	0.343																																																	0													136	128	131					4																	48588685		1839	4096	5935	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1701G>C	4.37:g.48588685C>G	ENSP00000426064:p.Leu567Phe		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L567F	ENST00000503238.1	37	c.1701	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490701	0.44249	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.72282	3.53;3.53;3.53;3.53;-0.64	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	U	0.000020	T	0.76414	0.3984	L	0.43152	1.355	0.80722	D	1	D;P	0.69078	0.997;0.589	D;P	0.79108	0.992;0.459	T	0.74106	-0.3772	10	0.36615	T	0.2	.	10.3421	0.43884	0.0:0.8549:0.0:0.1451	.	567;567	F2Z2S2;O94915	.;FRYL_HUMAN	F	567;567;567;567;273	ENSP00000426064:L567F;ENSP00000351113:L567F;ENSP00000441114:L567F;ENSP00000421584:L567F;ENSP00000425592:L273F	ENSP00000351113:L567F	L	-	3	2	FRYL	48283442	0.974000	0.33945	1.000000	0.80357	0.806000	0.45545	0.180000	0.16860	2.702000	0.92279	0.655000	0.94253	TTG	FRYL	-	superfamily_ARM-type_fold		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	C			48588685	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48588685	C	G	48588685	3	3	160	1	0	0	0	0	1	0	0	0	6082	825	29	1	7524	1	FRYL	4	48588685	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	93722	48588685	142565591	613	28886										
FIP1L1	81608	genome.wustl.edu	37	chr4	54245406	54245406	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtagatgaaaatgaagttGaaaggccagaagaagaaaat	12	2	0	7			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:54245406G>C	ENST00000337488.6	+	3	339	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	FIP1L1_ENST00000507922.1_Missense_Mutation_p.E34Q|FIP1L1_ENST00000507166.1_Missense_Mutation_p.E49Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.E34Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.E34Q|FIP1L1_ENST00000510668.1_3'UTR	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	49	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAATGAAGTTGAAAGGCCAGA	0.294			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													129	135	133					4																	54245406		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.145G>C	4.37:g.54245406G>C	ENSP00000336752:p.Glu49Gln		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.E49Q	ENST00000337488.6	37	c.145	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783321	0.70222	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.79454	-1.27	5.08	5.08	0.68730	.	0.091003	0.47852	D	0.000209	T	0.77691	0.4168	L	0.29908	0.895	0.40219	D	0.977719	P;D;P;P	0.54964	0.944;0.969;0.925;0.944	P;P;P;P	0.53649	0.731;0.634;0.644;0.57	T	0.80721	-0.1256	10	0.59425	D	0.04	-20.2753	16.611	0.84883	0.0:0.0:1.0:0.0	.	34;34;49;34	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	Q	49;34;34;34;49	ENSP00000423325:E49Q	ENSP00000302993:E34Q	E	+	1	0	FIP1L1	53940163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.377000	0.59562	2.529000	0.85273	0.655000	0.94253	GAA	FIP1L1	-	NULL		0.294	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	G	NM_030917		54245406	1	no_errors	ENST00000337488	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54245406	G	C	54245406	3	2	160	1	0	0	0	0	1	0	0	0	5914	1291	45	1	155	1	FIP1L1	4	54245406	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5656721	54245406	136908870	614	28887										
LNX1	84708	genome.wustl.edu	37	chr4	54347998	54347998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgaacctggcgggacacgacGaggtgaacacgtctttcact	12	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:54347998G>A	ENST00000263925.7	-	7	1688	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	LNX1_ENST00000306888.2_Silent_p.L362L|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	458	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGACACGACGAGGTGAACAC	0.577																																																	0													63	61	62					4																	54347998		2203	4300	6503	SO:0001819	synonymous_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1374C>T	4.37:g.54347998G>A			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.L458	ENST00000263925.7	37	c.1374	CCDS47057.1	4																																																																																			LNX1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.577	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	G			54347998	-1	no_errors	ENST00000263925	ensembl	human	known	70_37	silent	SNP	0.878	A	A	54347998	G	A	54347998	2	1	160	1	0	0	0	0	0	0	0	1	8886	1045	37	1		1	LNX1	4	54347998	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	102592	54347998	136806278	615	28888										
KIAA1211	57482	genome.wustl.edu	37	chr4	57179512	57179512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgttaagccaaaaaaacaGagggtgtcaaagaagcacag	11	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:57179512G>C	ENST00000504228.1	+	5	609	c.504G>C	c.(502-504)caG>caC	p.Q168H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.Q161H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.Q168H			Q6ZU35	K1211_HUMAN	KIAA1211	168										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAAAAAACAGAGGGTGTCAA	0.567																																																	0													84	92	90					4																	57179512		2032	4179	6211	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.504G>C	4.37:g.57179512G>C	ENSP00000423366:p.Gln168His		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.Q168H	ENST00000504228.1	37	c.504	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297134	0.60086	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.39787	1.8;1.8;1.06	5.49	3.42	0.39159	.	.	.	.	.	T	0.64821	0.2633	M	0.81942	2.565	0.41114	D	0.985761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71724	-0.4506	9	0.87932	D	0	-42.1255	13.4224	0.61005	0.1489:0.0:0.8511:0.0	.	161;161;168	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	168;168;161;78	ENSP00000264229:Q168H;ENSP00000423366:Q168H;ENSP00000444006:Q161H	ENSP00000264229:Q168H	Q	+	3	2	KIAA1211	56874269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.576000	0.60915	1.316000	0.45131	0.561000	0.74099	CAG	KIAA1211	-	NULL		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	G	NM_020722		57179512	1	no_errors	ENST00000504228	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57179512	G	C	57179512	3	2	160	1	0	0	0	0	1	0	0	0	8235	933	33	1	518	1	KIAA1211	4	57179512	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2831514	57179512	133974764	616	28889										
HOPX	84525	genome.wustl.edu	37	chr4	57523943	57523943	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaaccttggaaattacctCttccagtcttcttctgtaac	5	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:57523943C>T	ENST00000337881.7	-	2	645				HOPX_ENST00000381260.3_Intron|HOPX_ENST00000605395.1_5'Flank|HOPX_ENST00000317745.7_5'Flank|HOPX_ENST00000556614.2_5'Flank|HOPX_ENST00000555760.2_5'Flank|HOPX_ENST00000556376.2_Intron|HOPX_ENST00000554144.1_Missense_Mutation_p.E14K|HOPX_ENST00000381255.3_5'Flank|HOPX_ENST00000553379.2_5'Flank|HOPX_ENST00000420433.1_Missense_Mutation_p.E14K|HOPX_ENST00000503639.3_5'Flank|HOPX_ENST00000508121.1_Missense_Mutation_p.E14K	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					gaaattacctcttccagtctt	0.488																																																	0													91	81	84					4																	57523943		692	1591	2283	SO:0001627	intron_variant	84525				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.12-1765G>A	4.37:g.57523943C>T			A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E14K	ENST00000337881.7	37	c.40	CCDS3507.1	4	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766431	0.31228	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121	T;T	0.58940	0.3;0.3	2.95	0.252	0.15545	.	.	.	.	.	T	0.31136	0.0787	N	0.08118	0	0.09310	N	1	B;B	0.25312	0.123;0.004	B;B	0.24394	0.053;0.003	T	0.17379	-1.0371	9	0.30854	T	0.27	-0.0037	4.8659	0.13607	0.0:0.4772:0.0:0.5228	.	14;14	G3V294;E9PB55	.;.	K	14	ENSP00000396275:E14K;ENSP00000422175:E14K	ENSP00000370659:E14K	E	-	1	0	HOPX	57218700	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	0.542000	0.23222	0.042000	0.15717	0.478000	0.44815	GAG	HOPX	-	NULL		0.488	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	C			57523943	-1	no_errors	ENST00000554144	ensembl	human	known	70_37	missense	SNP	0.001	T	T	57523943	C	T	57523943	1	4	160	0	1	0	0	0	0	0	0	0	7305	922	32	1		1	HOPX	4	57523943	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	344431	57523943	133630333	617	28890										
EPHA5	2044	genome.wustl.edu	37	chr4	66280088	66280088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaatttggaagacataaactGaagctggtttcaagccctct	9	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:66280088G>A	ENST00000273854.3	-	7	2201	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	EPHA5_ENST00000354839.4_Missense_Mutation_p.S534L|EPHA5_ENST00000511294.1_Missense_Mutation_p.S534L|EPHA5_ENST00000432638.2_Missense_Mutation_p.S370L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	534	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACATAAACTGAAGCTGGTTT	0.423										TSP Lung(17;0.13)																																							0													188	150	163					4																	66280088		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1601C>T	4.37:g.66280088G>A	ENSP00000273854:p.Ser534Leu		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S534L	ENST00000273854.3	37	c.1601	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.161560	0.94727	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000076	T	0.51890	0.1701	L	0.33189	0.99	0.58432	D	0.999999	P;B;P;P	0.49961	0.587;0.003;0.532;0.93	B;B;B;P	0.45167	0.403;0.036;0.281;0.472	T	0.54159	-0.8335	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	534;534;534;534	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	534;370;534;534	ENSP00000273854:S534L;ENSP00000389208:S370L;ENSP00000346899:S534L;ENSP00000427638:S534L	ENSP00000273854:S534L	S	-	2	0	EPHA5	65962683	1.000000	0.71417	0.856000	0.33681	0.871000	0.50021	7.848000	0.86902	2.941000	0.99782	0.655000	0.94253	TCA	EPHA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66280088	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	0.994	A	A	66280088	G	A	66280088	3	1	160	1	0	0	0	0	1	0	0	0	5182	1294	45	1	1560	1	EPHA5	4	66280088	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8756145	66280088	124874188	618	28891										
STAP1	26228	genome.wustl.edu	37	chr4	68447142	68447142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtacgtccgtggaaaaagaGaaggaaccaactgaagatta	11	6	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:68447142G>C	ENST00000265404.2	+	5	565	c.483G>C	c.(481-483)gaG>gaC	p.E161D	STAP1_ENST00000396225.1_Missense_Mutation_p.E161D	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	161					intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TGGAAAAAGAGAAGGAACCAA	0.408																																																	0													227	206	213					4																	68447142		2203	4300	6503	SO:0001583	missense	26228			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.483G>C	4.37:g.68447142G>C	ENSP00000265404:p.Glu161Asp		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.E161D	ENST00000265404.2	37	c.483	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	G	7.428	0.638019	0.14386	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.47528	0.84;0.84	5.59	4.75	0.60458	.	0.659026	0.16170	N	0.226324	T	0.39655	0.1086	L	0.60455	1.87	0.31242	N	0.695036	P	0.35433	0.501	B	0.30401	0.115	T	0.41233	-0.9520	10	0.15499	T	0.54	-2.7045	10.9184	0.47150	0.0866:0.0:0.9134:0.0	.	161	Q9ULZ2	STAP1_HUMAN	D	161	ENSP00000265404:E161D;ENSP00000379527:E161D	ENSP00000265404:E161D	E	+	3	2	STAP1	68129737	0.969000	0.33509	0.978000	0.43139	0.113000	0.19764	1.302000	0.33459	1.523000	0.49018	0.650000	0.86243	GAG	STAP1	-	NULL		0.408	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	G	NM_012108		68447142	1	no_errors	ENST00000265404	ensembl	human	known	70_37	missense	SNP	0.973	C	C	68447142	G	C	68447142	3	2	160	1	0	0	0	0	1	0	0	0	15282	933	33	1	501	1	STAP1	4	68447142	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2167054	68447142	122707134	619	28892										
UGT2B11	10720	genome.wustl.edu	37	chr4	70074191	70074191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccagagctctgtacaaactCctccatttcctgtgaaaaaa	5	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:70074191C>T	ENST00000446444.1	-	3	888	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	294					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTACAAACTCCTCCATTTCC	0.393																																																	0													118	122	121					4																	70074191		2203	4293	6496	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.880G>A	4.37:g.70074191C>T	ENSP00000387683:p.Glu294Lys		Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E294K	ENST00000446444.1	37	c.880	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	7.609	0.674414	0.14841	.	.	ENSG00000213759	ENST00000446444	T	0.62498	0.02	1.96	1.05	0.20165	.	0.348573	0.25723	U	0.028740	T	0.49440	0.1557	L	0.45137	1.4	0.24182	N	0.99558	B	0.22541	0.071	B	0.32211	0.142	T	0.45789	-0.9237	10	0.59425	D	0.04	.	3.4761	0.07585	0.0:0.592:0.0:0.408	.	294	O75310	UDB11_HUMAN	K	294	ENSP00000387683:E294K	ENSP00000387683:E294K	E	-	1	0	UGT2B11	70108780	0.984000	0.35163	0.960000	0.40013	0.027000	0.11550	1.426000	0.34870	1.087000	0.41251	0.184000	0.17185	GAG	UGT2B11	-	pfam_UDP_glucos_trans		0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70074191	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70074191	C	T	70074191	3	4	160	1	0	0	0	0	1	0	0	0	16988	864	30	1	725	1	UGT2B11	4	70074191	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1627049	70074191	121080085	620	28893										
MUC7	4589	genome.wustl.edu	37	chr4	71347022	71347022	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttcctcagctccaccagaGaccacagctgccccacccac	5	21	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:71347022G>A	ENST00000304887.5	+	3	751	c.561G>A	c.(559-561)gaG>gaA	p.E187E	MUC7_ENST00000456088.1_Silent_p.E187E|MUC7_ENST00000413702.1_Silent_p.E187E	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	187	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTCCACCAGAGACCACAGCTG	0.587																																																	0													337	272	294					4																	71347022		2203	4300	6503	SO:0001819	synonymous_variant	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.561G>A	4.37:g.71347022G>A			Q9UCD7|Q9UCD8	Silent	SNP	NULL	p.E187	ENST00000304887.5	37	c.561	CCDS3541.1	4																																																																																			MUC7	-	NULL		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	G	NM_152291		71347022	1	no_errors	ENST00000304887	ensembl	human	known	70_37	silent	SNP	0.000	A	A	71347022	G	A	71347022	2	1	160	1	0	0	0	0	0	0	0	1	10004	933	33	1		1	MUC7	4	71347022	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1272831	71347022	119807254	621	28894										
FRAS1	80144	genome.wustl.edu	37	chr4	79385678	79385678	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttaggaatgcgggtgcagGagggcatgaggaagaccatc	16	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79385678G>C	ENST00000264895.6	+	49	7410	c.6970G>C	c.(6970-6972)Gag>Cag	p.E2324Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2324					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGGGTGCAGGAGGGCATGAG	0.507																																																	0													124	120	121					4																	79385678		2093	4228	6321	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6970G>C	4.37:g.79385678G>C	ENSP00000264895:p.Glu2324Gln		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E2324Q	ENST00000264895.6	37	c.6970	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.17|16.17	3.048229|3.048229	0.55110|0.55110	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.58797|.	0.31|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.113557|.	0.64402|.	D|.	0.000019|.	T|T	0.81749|0.81749	0.4888|0.4888	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.66716|.	0.946|.	T|T	0.82168|0.82168	-0.0591|-0.0591	10|5	0.54805|.	T|.	0.06|.	.|.	19.3615|19.3615	0.94440|0.94440	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2324|.	E9PHH6|.	.|.	Q|A	2324|552	ENSP00000264895:E2324Q|.	ENSP00000264895:E2324Q|.	E|G	+|+	1|2	0|0	FRAS1|FRAS1	79604702|79604702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.223000|0.223000	0.24884|0.24884	9.642000|9.642000	0.98461|0.98461	2.586000|2.586000	0.87340|0.87340	0.650000|0.650000	0.86243|0.86243	GAG|GGA	FRAS1	-	NULL		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79385678	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79385678	G	C	79385678	3	2	160	1	0	0	0	0	1	0	0	0	6060	1175	41	1	7239	1	FRAS1	4	79385678	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8038656	79385678	111768598	622	28895										
FRAS1	80144	genome.wustl.edu	37	chr4	79461938	79461938	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcggtagctgcgtccctgtCacagactggggcgtccattg	15	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79461938C>G	ENST00000264895.6	+	74	12139	c.11699C>G	c.(11698-11700)tCa>tGa	p.S3900*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3896					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGTCCCTGTCACAGACTGGG	0.493																																																	0													50	57	55					4																	79461938		2003	4182	6185	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11699C>G	4.37:g.79461938C>G	ENSP00000264895:p.Ser3900*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.S3900*	ENST00000264895.6	37	c.11699	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	42	9.522067	0.99195	.	.	ENSG00000138759	ENST00000264895	.	.	.	6.17	6.17	0.99709	.	0.330716	0.32608	N	0.005880	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	3900	.	ENSP00000264895:S3900X	S	+	2	0	FRAS1	79680962	0.996000	0.38824	0.654000	0.29608	0.007000	0.05969	4.587000	0.60991	2.941000	0.99782	0.655000	0.94253	TCA	FRAS1	-	NULL		0.493	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79461938	1	no_errors	ENST00000264895	ensembl	human	known	70_37	nonsense	SNP	0.990	G	G	79461938	C	G	79461938	4	3	160	1	0	0	0	0	0	1	0	0	6060	838	29	1	12068	1	FRAS1	4	79461938	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	76260	79461938	111692338	623	28896										
FRAS1	80144	genome.wustl.edu	37	chr4	79461991	79461991	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcaatcatgcttctacttCtggtgtttttggtggcttgt	10	8	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79461991C>G	ENST00000264895.6	+	74	12192	c.11752C>G	c.(11752-11754)Ctg>Gtg	p.L3918V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3914					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTTCTACTTCTGGTGTTTTT	0.498																																																	0													59	66	63					4																	79461991		1946	4143	6089	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11752C>G	4.37:g.79461991C>G	ENSP00000264895:p.Leu3918Val		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.L3918V	ENST00000264895.6	37	c.11752	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.243586|2.243586	0.39697|0.39697	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.52526|.	0.66|.	6.17|6.17	2.43|2.43	0.29744|0.29744	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.48114|0.48114	0.1482|0.1482	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.23904|0.23904	-1.0175|-1.0175	10|5	0.59425|.	D|.	0.04|.	.|.	8.9857|8.9857	0.35992|0.35992	0.0:0.7175:0.109:0.1735|0.0:0.7175:0.109:0.1735	.|.	3918|.	E9PHH6|.	.|.	V|C	3918|2146	ENSP00000264895:L3918V|.	ENSP00000264895:L3918V|.	L|S	+|+	1|2	2|0	FRAS1|FRAS1	79681015|79681015	0.986000|0.986000	0.35501|0.35501	0.814000|0.814000	0.32528|0.32528	0.160000|0.160000	0.22226|0.22226	2.571000|2.571000	0.45990|0.45990	0.439000|0.439000	0.26476|0.26476	0.655000|0.655000	0.94253|0.94253	CTG|TCT	FRAS1	-	NULL		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79461991	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.977	G	G	79461991	C	G	79461991	3	3	160	1	0	0	0	0	1	0	0	0	6060	912	32	1	12121	1	FRAS1	4	79461991	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	53	79461991	111692285	624	28897										
BMP2K	55589	genome.wustl.edu	37	chr4	79772146	79772146	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgagagtcaggttgctatCtgtgatggcaacttcaccat	12	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:79772146C>T	ENST00000335016.5	+	7	985	c.819C>T	c.(817-819)atC>atT	p.I273I	BMP2K_ENST00000502871.1_Silent_p.I273I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGGTTGCTATCTGTGATGGCA	0.368																																																	0													128	112	117					4																	79772146		2203	4300	6503	SO:0001819	synonymous_variant	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.819C>T	4.37:g.79772146C>T			O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I273	ENST00000335016.5	37	c.819	CCDS47083.1	4																																																																																			BMP2K	-	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		0.368	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		C	NM_017593		79772146	1	no_errors	ENST00000335016	ensembl	human	known	70_37	silent	SNP	1.000	T	T	79772146	C	T	79772146	2	4	160	1	0	0	0	0	0	0	0	1	1461	903	32	1		1	BMP2K	4	79772146	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	310155	79772146	111382130	625	28898										
KLHL8	57563	genome.wustl.edu	37	chr4	88099767	88099767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgaccacctacacaaaacaGcacacctaaaggtaaagcca	5	14	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:88099767G>C	ENST00000273963.5	-	5	1299	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000512111.1_Missense_Mutation_p.L320V|KLHL8_ENST00000425278.2_Missense_Mutation_p.L137V|KLHL8_ENST00000498875.2_Missense_Mutation_p.L244V	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	320					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACACAAAACAGCACACCTAAA	0.368																																																	0													77	70	72					4																	88099767		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.958C>G	4.37:g.88099767G>C	ENSP00000273963:p.Leu320Val		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L320V	ENST00000273963.5	37	c.958	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783052	0.70222	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.57	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	L	0.33753	1.03	0.80722	D	1	D;D;D	0.69078	0.966;0.997;0.994	P;D;P	0.63381	0.695;0.914;0.873	T	0.81600	-0.0859	10	0.62326	D	0.03	.	13.8539	0.63515	0.0734:0.0:0.9266:0.0	.	137;244;320	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	V	320;244;137;320	ENSP00000273963:L320V;ENSP00000426451:L244V;ENSP00000408854:L137V;ENSP00000424131:L320V	ENSP00000273963:L320V	L	-	1	2	KLHL8	88318791	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.182000	0.50910	2.629000	0.89072	0.591000	0.81541	CTG	KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.368	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	G			88099767	-1	no_errors	ENST00000273963	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88099767	G	C	88099767	3	2	160	1	0	0	0	0	1	0	0	0	8415	962	34	4	928	4	KLHL8	4	88099767	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8327621	88099767	103054509	626	28899										
SPP1	6696	genome.wustl.edu	37	chr4	88902690	88902690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atatggatgatgaagatgatGatgaccatgtggacagccag	13	5	0	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:88902690G>A	ENST00000395080.3	+	6	407	c.280G>A	c.(280-282)Gat>Aat	p.D94N	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.D80N|SPP1_ENST00000360804.4_Missense_Mutation_p.D67N	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TGAAGATGATGATGACCATGT	0.438																																																	0													266	245	252					4																	88902690		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.280G>A	4.37:g.88902690G>A	ENSP00000378517:p.Asp94Asn		B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.D94N	ENST00000395080.3	37	c.280	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	G	9.920	1.212010	0.22289	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.94	3.18	0.36537	.	3.371710	0.00649	N	0.000541	T	0.50769	0.1635	L	0.43923	1.385	0.09310	N	1	B;B;B;P;B	0.50819	0.322;0.322;0.322;0.939;0.322	B;B;B;P;B	0.56278	0.19;0.19;0.19;0.795;0.19	T	0.25606	-1.0127	10	0.22109	T	0.4	1.2273	6.6605	0.23011	0.0963:0.1808:0.7229:0.0	.	107;53;80;67;94	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	N	94;53;80;94;67;53	ENSP00000237623:D80N;ENSP00000378517:D94N;ENSP00000354042:D67N;ENSP00000422973:D53N	ENSP00000237623:D80N	D	+	1	0	SPP1	89121714	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.394000	0.07296	0.758000	0.33059	0.544000	0.68410	GAT	SPP1	-	pfam_Osteopontin,smart_Osteopontin		0.438	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	G			88902690	1	no_errors	ENST00000395080	ensembl	human	known	70_37	missense	SNP	0.001	A	A	88902690	G	A	88902690	3	1	160	1	0	0	0	0	1	0	0	0	15116	1290	45	1	298	1	SPP1	4	88902690	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	802923	88902690	102251586	627	28900										
MMRN1	22915	genome.wustl.edu	37	chr4	90857754	90857754	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaccaataattcaaataaaaActcaagctgccctatctaat	2	10	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:90857754A>T	ENST00000394980.1	+	7	3242	c.2923A>T	c.(2923-2925)Act>Tct	p.T975S	MMRN1_ENST00000508372.1_Missense_Mutation_p.T717S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T975S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	975					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAAATAAAAACTCAAGCTGC	0.378																																																	0													51	54	53					4																	90857754		2203	4299	6502	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2923A>T	4.37:g.90857754A>T	ENSP00000378431:p.Thr975Ser		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.T975S	ENST00000394980.1	37	c.2923	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130273	0.56721	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66815	0.08;0.08;-0.23	5.1	5.1	0.69264	.	0.081889	0.56097	D	0.000040	T	0.56485	0.1988	L	0.59436	1.845	0.80722	D	1	P	0.46395	0.877	B	0.37731	0.257	T	0.63171	-0.6697	10	0.66056	D	0.02	.	5.7954	0.18383	0.791:0.0:0.209:0.0	.	975	Q13201	MMRN1_HUMAN	S	975;975;717	ENSP00000378431:T975S;ENSP00000264790:T975S;ENSP00000426461:T717S	ENSP00000264790:T975S	T	+	1	0	MMRN1	91076777	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	1.899000	0.39818	2.225000	0.72522	0.533000	0.62120	ACT	MMRN1	-	NULL		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	A	NM_007351		90857754	1	no_errors	ENST00000264790	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90857754	A	T	90857754	3	4	160	1	0	0	0	0	1	0	0	0	9693	43	2	5	2945	5	MMRN1	4	90857754	Missense_Mutation	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	1955064	90857754	100296522	628	28901										
MMRN1	22915	genome.wustl.edu	37	chr4	90857906	90857906	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaaatcttaccacagtcctGataggccggactcaaagaaa	8	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:90857906G>C	ENST00000394980.1	+	7	3394	c.3075G>C	c.(3073-3075)ctG>ctC	p.L1025L	MMRN1_ENST00000508372.1_Silent_p.L767L|MMRN1_ENST00000264790.2_Silent_p.L1025L|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	1025					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.L1025L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCACAGTCCTGATAGGCCGGA	0.348																																																	1	Substitution - coding silent(1)	lung(1)											53	57	56					4																	90857906		2109	4138	6247	SO:0001819	synonymous_variant	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3075G>C	4.37:g.90857906G>C			Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.L1025	ENST00000394980.1	37	c.3075	CCDS3635.1	4																																																																																			MMRN1	-	NULL		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	G	NM_007351		90857906	1	no_errors	ENST00000264790	ensembl	human	known	70_37	silent	SNP	0.000	C	C	90857906	G	C	90857906	2	2	160	1	0	0	0	0	0	0	0	1	9693	1277	45	1		1	MMRN1	4	90857906	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	152	90857906	100296370	629	28902										
CENPE	1062	genome.wustl.edu	37	chr4	104061469	104061469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttttgaatgtctgaaatttGaattgtcttttctgaaattt	6	4	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:104061469G>C	ENST00000265148.3	-	37	5946	c.5857C>G	c.(5857-5859)Caa>Gaa	p.Q1953E	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1928E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1953					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTGAAATTTGAATTGTCTTT	0.299																																																	0													83	92	89					4																	104061469		2203	4292	6495	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5857C>G	4.37:g.104061469G>C	ENSP00000265148:p.Gln1953Glu		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1953E	ENST00000265148.3	37	c.5857	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	6.414	0.444540	0.12164	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70282	-0.47;-0.47	5.22	2.47	0.30058	.	.	.	.	.	T	0.47875	0.1469	N	0.16790	0.44	0.09310	N	1	B;B	0.22604	0.005;0.072	B;B	0.18871	0.011;0.023	T	0.27400	-1.0075	9	0.02654	T	1	.	9.7962	0.40737	0.0:0.4311:0.4211:0.1478	.	1928;1953	Q02224-3;Q02224	.;CENPE_HUMAN	E	1953;1953;1928	ENSP00000265148:Q1953E;ENSP00000369365:Q1928E	ENSP00000265148:Q1953E	Q	-	1	0	CENPE	104280918	0.036000	0.19791	0.001000	0.08648	0.321000	0.28281	1.070000	0.30653	0.179000	0.19938	0.643000	0.83706	CAA	CENPE	-	NULL		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		G			104061469	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.003	C	C	104061469	G	C	104061469	3	2	160	1	0	0	0	0	1	0	0	0	3235	1299	45	1	2300	1	CENPE	4	104061469	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	13203563	104061469	87092807	630	28903										
CENPE	1062	genome.wustl.edu	37	chr4	104065773	104065773	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctttttcttgagattctttCatctgagaaaattataaagt	5	5	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:104065773C>T	ENST00000265148.3	-	33	4949	c.4860G>A	c.(4858-4860)atG>atA	p.M1620I	CENPE_ENST00000380026.3_Missense_Mutation_p.M1595I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1620					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAGATTCTTTCATCTGAGAAA	0.308																																																	0													32	32	32					4																	104065773		2200	4296	6496	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4860G>A	4.37:g.104065773C>T	ENSP00000265148:p.Met1620Ile		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1620I	ENST00000265148.3	37	c.4860	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015864	0.07959	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.64618	0.05;-0.11	4.61	-7.12	0.01537	.	.	.	.	.	T	0.22085	0.0532	N	0.01209	-0.955	0.19775	N	0.999958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11665	-1.0578	9	0.27785	T	0.31	.	1.0119	0.01499	0.2745:0.3232:0.2128:0.1896	.	1595;1620	Q02224-3;Q02224	.;CENPE_HUMAN	I	1620;1620;1595	ENSP00000265148:M1620I;ENSP00000369365:M1595I	ENSP00000265148:M1620I	M	-	3	0	CENPE	104285222	0.008000	0.16893	0.474000	0.27266	0.395000	0.30598	-1.112000	0.03299	-1.338000	0.02233	0.544000	0.68410	ATG	CENPE	-	NULL		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104065773	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.475	T	T	104065773	C	T	104065773	3	4	160	1	0	0	0	0	1	0	0	0	3235	826	29	1	3313	1	CENPE	4	104065773	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4304	104065773	87088503	631	28904										
TET2	54790	genome.wustl.edu	37	chr4	106158171	106158171	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgtgcagcaaaagagcatCattgagaccatggagcagca	11	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:106158171C>G	ENST00000540549.1	+	3	3932	c.3072C>G	c.(3070-3072)atC>atG	p.I1024M	TET2_ENST00000513237.1_Missense_Mutation_p.I1045M|TET2_ENST00000380013.4_Missense_Mutation_p.I1024M|TET2_ENST00000394764.1_Missense_Mutation_p.I1024M|TET2_ENST00000305737.2_Missense_Mutation_p.I1024M|TET2_ENST00000413648.2_Missense_Mutation_p.I1024M|TET2_ENST00000545826.1_Missense_Mutation_p.I1024M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1024					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAAGAGCATCATTGAGACCA	0.423			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													100	84	90					4																	106158171		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3072C>G	4.37:g.106158171C>G	ENSP00000442788:p.Ile1024Met		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.I1024M	ENST00000540549.1	37	c.3072	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591253	0.46214	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.30182	1.54;1.54;2.53;1.54;1.54;1.54;1.54	5.79	2.04	0.26737	.	0.000000	0.34932	U	0.003572	T	0.46946	0.1419	L	0.58101	1.795	0.47153	D	0.999337	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.31503	-0.9941	10	0.72032	D	0.01	.	9.0529	0.36387	0.0:0.5565:0.0:0.4435	.	1045;1024;1024	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	M	1024;1024;1024;1045;1024;1024;1024	ENSP00000306705:I1024M;ENSP00000442788:I1024M;ENSP00000442867:I1024M;ENSP00000425443:I1045M;ENSP00000369351:I1024M;ENSP00000378245:I1024M;ENSP00000391448:I1024M	ENSP00000265149:I1024M	I	+	3	3	TET2	106377620	0.997000	0.39634	0.312000	0.25196	0.990000	0.78478	0.869000	0.27996	0.059000	0.16252	-0.345000	0.07892	ATC	TET2	-	NULL		0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106158171	1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	0.972	G	G	106158171	C	G	106158171	3	3	160	1	0	0	0	0	1	0	0	0	15800	816	29	1	3074	1	TET2	4	106158171	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2092398	106158171	84996105	632	28905										
AGXT2L1	64850	genome.wustl.edu	37	chr4	109670544	109670544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatacatctggaagctccaGaaatgtttcccaactctgcc	6	14	2	1	rs575843452		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:109670544G>C	ENST00000296486.3	-	8	931	c.777C>G	c.(775-777)ttC>ttG	p.F259L	ETNPPL_ENST00000512646.1_Missense_Mutation_p.F201L|ETNPPL_ENST00000411864.2_Missense_Mutation_p.F253L|ETNPPL_ENST00000510706.1_Missense_Mutation_p.F219L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	259						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										GGAAGCTCCAGAAATGTTTCC	0.488																																																	0													123	126	125					4																	109670544		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.777C>G	4.37:g.109670544G>C	ENSP00000296486:p.Phe259Leu		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F259L	ENST00000296486.3	37	c.777	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231844	0.79688	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.62	2.52	0.30459	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	L	0.52206	1.635	0.54753	D	0.999989	P;P;D	0.59767	0.828;0.684;0.986	P;P;P	0.61328	0.737;0.666;0.887	D	0.84040	0.0364	9	.	.	.	-21.5758	9.4178	0.38532	0.3981:0.0:0.6019:0.0	.	201;253;259	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	L	259;253;201;219	ENSP00000296486:F259L;ENSP00000392269:F253L;ENSP00000427065:F201L;ENSP00000423240:F219L	.	F	-	3	2	AGXT2L1	109889993	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	2.022000	0.41030	0.706000	0.31912	0.650000	0.86243	TTC	AGXT2L1	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	G	NM_031279		109670544	-1	no_errors	ENST00000296486	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109670544	G	C	109670544	3	2	160	1	0	0	0	0	1	0	0	0	406	933	33	1	746	1	AGXT2L1	4	109670544	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3512373	109670544	81483732	633	28906										
PITX2	5308	genome.wustl.edu	37	chr4	111553603	111553603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttgatttcggagtctttgGagaagagacattcaacggcc	11	7	2	3	rs201299310		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:111553603G>T	ENST00000354925.2	-	5	1785	c.80C>A	c.(79-81)tCc>tAc	p.S27Y	PITX2_ENST00000394598.2_Missense_Mutation_p.S27Y|PITX2_ENST00000394595.3_Missense_Mutation_p.S27Y|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	27					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GGAGTCTTTGGAGAAGAGACA	0.662																																																	0													56	68	64					4																	111553603		2203	4300	6503	SO:0001583	missense	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.80C>A	4.37:g.111553603G>T	ENSP00000347004:p.Ser27Tyr		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.S27Y	ENST00000354925.2	37	c.80	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388299	0.61956	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	D;D;D	0.93133	-2.95;-2.95;-3.17	4.83	4.83	0.62350	.	.	.	.	.	D	0.93759	0.8005	N	0.19112	0.55	0.31283	N	0.690336	D	0.55605	0.972	D	0.69142	0.962	D	0.92787	0.6245	9	0.59425	D	0.04	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	27	Q99697	PITX2_HUMAN	Y	27	ENSP00000378097:S27Y;ENSP00000347004:S27Y;ENSP00000421454:S27Y	ENSP00000347004:S27Y	S	-	2	0	PITX2	111773052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	2.504000	0.84457	0.650000	0.86243	TCC	PITX2	-	pirsf_Homeobox_Pitx/unc30		0.662	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	G			111553603	-1	no_errors	ENST00000354925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111553603	G	T	111553603	3	4	160	1	0	0	0	0	1	0	0	0	11979	1174	41	3	1094	3	PITX2	4	111553603	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1883059	111553603	79600673	634	28907										
C4orf21	55345	genome.wustl.edu	37	chr4	113483555	113483555	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggtactgtgttagaggtaGagtagctggattaaagtagt	14	3	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:113483555G>C	ENST00000505019.1	-	18	4794	c.4669C>G	c.(4669-4671)Cta>Gta	p.L1557V		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1557						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		GTTAGAGGTAGAGTAGCTGGA	0.343																																																	0													106	89	94					4																	113483555		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.4669C>G	4.37:g.113483555G>C	ENSP00000424737:p.Leu1557Val		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L1557V	ENST00000505019.1	37	c.4669		4	.	.	.	.	.	.	.	.	.	.	G	9.559	1.118083	0.20877	.	.	ENSG00000138658	ENST00000505019	T	0.43688	0.94	5.66	4.82	0.62117	.	0.292675	0.23930	N	0.043143	T	0.42585	0.1209	M	0.72118	2.19	0.80722	D	1	B	0.33637	0.42	B	0.35240	0.198	T	0.38001	-0.9681	10	0.45353	T	0.12	-6.0889	9.2946	0.37808	0.2047:0.0:0.7953:0.0	.	1557	G5EA02	.	V	1557	ENSP00000424737:L1557V	ENSP00000404365:L455V	L	-	1	2	C4orf21	113703004	0.997000	0.39634	0.134000	0.22075	0.052000	0.14988	1.243000	0.32767	1.396000	0.46663	0.650000	0.86243	CTA	C4orf21	-	NULL		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	G			113483555	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.968	C	C	113483555	G	C	113483555	3	2	160	1	0	0	0	0	1	0	0	0	2259	933	33	1	1689	1	C4orf21	4	113483555	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1929952	113483555	77670721	635	28908										
C4orf21	55345	genome.wustl.edu	37	chr4	113508633	113508633	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacagagtctaaagagctttCattgacagcatcactctgtc	7	11	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:113508633C>G	ENST00000505019.1	-	12	3705	c.3580G>C	c.(3580-3582)Gaa>Caa	p.E1194Q		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1194						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		AAAGAGCTTTCATTGACAGCA	0.403																																																	0													229	236	234					4																	113508633		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.3580G>C	4.37:g.113508633C>G	ENSP00000424737:p.Glu1194Gln		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.E1194Q	ENST00000505019.1	37	c.3580		4	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849320	0.32699	.	.	ENSG00000138658	ENST00000505019	D	0.82803	-1.65	5.55	3.59	0.41128	.	1.176290	0.06134	N	0.671216	T	0.69708	0.3141	L	0.27053	0.805	0.21220	N	0.999752	P	0.37276	0.589	B	0.30943	0.122	T	0.58020	-0.7710	10	0.27785	T	0.31	-2.0658	4.8333	0.13451	0.0:0.3125:0.0:0.6875	.	1194	G5EA02	.	Q	1194	ENSP00000424737:E1194Q	ENSP00000404365:E92Q	E	-	1	0	C4orf21	113728082	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.046000	0.11983	0.647000	0.30713	0.586000	0.80456	GAA	C4orf21	-	NULL		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113508633	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.004	G	G	113508633	C	G	113508633	3	3	160	1	0	0	0	0	1	0	0	0	2259	835	29	1	2802	1	C4orf21	4	113508633	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	25078	113508633	77645643	636	28909										
ANK2	287	genome.wustl.edu	37	chr4	114117523	114117523	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttgtttgtttcttctctcaGaatggactcaacgctctcca	6	12	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:114117523G>C	ENST00000357077.4	+	3	239		c.e3-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTCTCTCAGAATGGACTCA	0.502																																																	0													66	67	67					4																	114117523		2203	4300	6503	SO:0001630	splice_region_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.187-1G>C	4.37:g.114117523G>C			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	-	e3-1	ENST00000357077.4	37	c.187-1	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561298	0.65538	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000511380;ENST00000343056	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6173	0.84919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114336972	1.000000	0.71417	0.994000	0.49952	0.738000	0.42128	9.508000	0.98000	2.319000	0.78375	0.655000	0.94253	.	ANK2	-	-		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148	Intron	114117523	1	no_errors	ENST00000357077	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	114117523	G	C	114117523	5	2	160	1	0	0	0	0	0	0	1	0	621	956	33	1	221	1	ANK2	4	114117523	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	608890	114117523	77036753	637	28910										
ANK2	287	genome.wustl.edu	37	chr4	114278343	114278343	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcctcattgtttggtatctGaaggaaaagaattagatgaa	10	4	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:114278343G>C	ENST00000357077.4	+	38	8622	c.8569G>C	c.(8569-8571)Gaa>Caa	p.E2857Q	ANK2_ENST00000264366.6_Missense_Mutation_p.E2824Q|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2857					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTGGTATCTGAAGGAAAAGA	0.393																																																	0													95	96	96					4																	114278343		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8569G>C	4.37:g.114278343G>C	ENSP00000349588:p.Glu2857Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E2857Q	ENST00000357077.4	37	c.8569	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556849	0.27827	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69685	-0.39;-0.42	5.75	4.91	0.64330	.	0.343001	0.24585	N	0.037280	T	0.59211	0.2177	L	0.50333	1.59	0.80722	D	1	B;B	0.23377	0.051;0.084	B;B	0.26094	0.03;0.066	T	0.54153	-0.8336	9	.	.	.	.	10.4062	0.44258	0.0886:0.0:0.9114:0.0	.	2824;2857	Q01484;Q01484-4	ANK2_HUMAN;.	Q	2857;2824	ENSP00000349588:E2857Q;ENSP00000264366:E2824Q	.	E	+	1	0	ANK2	114497792	0.952000	0.32445	0.519000	0.27824	0.700000	0.40528	2.001000	0.40825	1.430000	0.47334	0.650000	0.86243	GAA	ANK2	-	NULL		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114278343	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.731	C	C	114278343	G	C	114278343	3	2	160	1	0	0	0	0	1	0	0	0	621	1291	45	1	8784	1	ANK2	4	114278343	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	160820	114278343	76875933	638	28911										
NDST4	64579	genome.wustl.edu	37	chr4	115749027	115749027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggcagaggctgtcccagtCtgtgtagcagtttggatagt	14	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:115749027C>T	ENST00000264363.2	-	14	3242	c.2564G>A	c.(2563-2565)aGa>aAa	p.R855K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	855	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTCCCAGTCTGTGTAGCAG	0.423																																																	0													109	106	107					4																	115749027		2203	4299	6502	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2564G>A	4.37:g.115749027C>T	ENSP00000264363:p.Arg855Lys		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R855K	ENST00000264363.2	37	c.2564	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555935	0.27827	.	.	ENSG00000138653	ENST00000264363	T	0.55413	0.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.28608	0.87	0.52099	D	0.99994	B	0.09022	0.002	B	0.17722	0.019	T	0.34153	-0.9840	10	0.06365	T	0.9	.	18.7903	0.91971	0.0:1.0:0.0:0.0	.	855	Q9H3R1	NDST4_HUMAN	K	855	ENSP00000264363:R855K	ENSP00000264363:R855K	R	-	2	0	NDST4	115968476	0.932000	0.31603	0.472000	0.27241	0.954000	0.61252	7.387000	0.79785	2.446000	0.82766	0.544000	0.68410	AGA	NDST4	-	NULL		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	C	NM_022569		115749027	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115749027	C	T	115749027	3	4	160	1	0	0	0	0	1	0	0	0	10282	913	32	1	58	1	NDST4	4	115749027	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1470684	115749027	75405249	639	28912										
NDST3	9348	genome.wustl.edu	37	chr4	119026190	119026190	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggccctgcttgatactcaGaatcttttgcgtgcacaaat	8	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:119026190G>C	ENST00000296499.5	+	3	1402	c.999G>C	c.(997-999)caG>caC	p.Q333H	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	333	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGATACTCAGAATCTTTTGC	0.318																																																	0													121	132	128					4																	119026190		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.999G>C	4.37:g.119026190G>C	ENSP00000296499:p.Gln333His		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.Q333H	ENST00000296499.5	37	c.999	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417183	0.62511	.	.	ENSG00000164100	ENST00000296499	T	0.52295	0.67	5.18	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.87269	2.87	0.80722	D	1	P	0.49447	0.924	P	0.61722	0.893	T	0.67665	-0.5612	10	0.87932	D	0	.	8.5409	0.33393	0.1417:0.1254:0.7328:0.0	.	333	O95803	NDST3_HUMAN	H	333	ENSP00000296499:Q333H	ENSP00000296499:Q333H	Q	+	3	2	NDST3	119245638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.918000	0.56432	0.560000	0.29169	0.557000	0.71058	CAG	NDST3	-	pfam_Heparan_SO4_deacetylase		0.318	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	G	NM_004784		119026190	1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119026190	G	C	119026190	3	2	160	1	0	0	0	0	1	0	0	0	10281	933	33	1	1005	1	NDST3	4	119026190	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3277163	119026190	72128086	640	28913										
PRSS12	8492	genome.wustl.edu	37	chr4	119239689	119239689	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccttccccaaaatatgcctGatgccatgctttggcaatgc	7	14	0	1	rs376733642		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:119239689G>C	ENST00000296498.3	-	5	1276	c.994C>G	c.(994-996)Cag>Gag	p.Q332E		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	332	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAATATGCCTGATGCCATGCT	0.423																																																	0													74	69	71					4																	119239689		2203	4300	6503	SO:0001583	missense	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.994C>G	4.37:g.119239689G>C	ENSP00000296498:p.Gln332Glu		Q9UP16	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.Q332E	ENST00000296498.3	37	c.994	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	G	5.263	0.233903	0.09969	.	.	ENSG00000164099	ENST00000296498	T	0.43688	0.94	5.8	4.95	0.65309	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.124400	0.06360	N	0.711513	T	0.28599	0.0708	N	0.13043	0.29	0.24510	N	0.994213	B	0.19445	0.036	B	0.20384	0.029	T	0.05784	-1.0864	10	0.02654	T	1	.	14.5136	0.67804	0.0:0.0:0.8534:0.1466	.	332	P56730	NETR_HUMAN	E	332	ENSP00000296498:Q332E	ENSP00000296498:Q332E	Q	-	1	0	PRSS12	119459137	0.922000	0.31269	0.034000	0.17996	0.967000	0.64934	2.113000	0.41902	1.414000	0.47017	0.655000	0.94253	CAG	PRSS12	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.423	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	G			119239689	-1	no_errors	ENST00000296498	ensembl	human	known	70_37	missense	SNP	0.480	C	C	119239689	G	C	119239689	3	2	160	1	0	0	0	0	1	0	0	0	12642	1299	45	1	1669	1	PRSS12	4	119239689	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	213499	119239689	71914587	641	28914										
PDE5A	8654	genome.wustl.edu	37	chr4	120549699	120549699	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcttttctaacaaagtatGagaaggtaaagtcccagtga	10	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:120549699G>A	ENST00000354960.3	-	1	447	c.128C>T	c.(127-129)tCa>tTa	p.S43L	PDE5A_ENST00000264805.5_5'Flank|PDE5A_ENST00000394439.1_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	43					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACAAAGTATGAGAAGGTAAA	0.557											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													104	94	97					4																	120549699		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.128C>T	4.37:g.120549699G>A	ENSP00000347046:p.Ser43Leu	1504	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S43L	ENST00000354960.3	37	c.128	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860527	0.91433	.	.	ENSG00000138735	ENST00000354960	T	0.64618	-0.11	5.98	5.98	0.97165	.	0.402120	0.27429	N	0.019420	T	0.61615	0.2361	L	0.53249	1.67	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	T	0.56347	-0.7994	10	0.52906	T	0.07	.	19.2081	0.93742	0.0:0.0:1.0:0.0	.	43	O76074	PDE5A_HUMAN	L	43	ENSP00000347046:S43L	ENSP00000347046:S43L	S	-	2	0	PDE5A	120769147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.435000	0.66532	2.837000	0.97791	0.591000	0.81541	TCA	PDE5A	-	NULL		0.557	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	G	NM_001083		120549699	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120549699	G	A	120549699	3	1	160	1	0	0	0	0	1	0	0	0	11668	1294	45	1	2613	1	PDE5A	4	120549699	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1310010	120549699	70604577	642	28915										
BBS7	55212	genome.wustl.edu	37	chr4	122749661	122749661	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactgatacttcatttatctCtagaaggagttgaccagatg	9	7	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:122749661C>G	ENST00000264499.4	-	17	1970		c.e17-1		BBS7_ENST00000506636.1_Splice_Site	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7						brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATTTATCTCTAGAAGGAGT	0.323									Bardet-Biedl syndrome																																								0													122	119	120					4																	122749661		2203	4300	6503	SO:0001630	splice_region_variant	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1787-1G>C	4.37:g.122749661C>G			Q4W5P8|Q8N581|Q9NVI4	Splice_Site	SNP	-	e17-1	ENST00000264499.4	37	c.1787-1	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925250	0.73213	.	.	ENSG00000138686	ENST00000264499;ENST00000507814;ENST00000506636	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9215	0.97087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BBS7	122969111	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.713000	0.84693	2.785000	0.95823	0.655000	0.94253	.	BBS7	-	-		0.323	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	C		Intron	122749661	-1	no_errors	ENST00000264499	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	122749661	C	G	122749661	5	3	160	1	0	0	0	0	0	0	1	0	1342	927	32	1	378	1	BBS7	4	122749661	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2199962	122749661	68404615	643	28916										
TRPC3	7222	genome.wustl.edu	37	chr4	122833186	122833186	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacacaagcagacccaggaaGatgatgaaagaagctgcatg	11	8	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:122833186G>C	ENST00000379645.3	-	5	1477	c.1404C>G	c.(1402-1404)atC>atG	p.I468M	TRPC3_ENST00000513531.1_Missense_Mutation_p.I340M|TRPC3_ENST00000264811.5_Missense_Mutation_p.I395M	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	383					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GACCCAGGAAGATGATGAAAG	0.448																																																	0													93	99	97					4																	122833186		2203	4300	6503	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1404C>G	4.37:g.122833186G>C	ENSP00000368966:p.Ile468Met		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I468M	ENST00000379645.3	37	c.1404	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311744	0.40895	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.42900	0.96;0.96;0.96	5.49	3.46	0.39613	.	0.138265	0.49916	D	0.000131	T	0.31513	0.0799	L	0.53249	1.67	0.41161	D	0.986094	B;B;B	0.32829	0.116;0.116;0.386	B;B;B	0.34093	0.062;0.091;0.175	T	0.21245	-1.0251	10	0.36615	T	0.2	-0.1388	1.7573	0.02985	0.2748:0.0:0.4119:0.3133	.	383;340;468	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	M	395;468;340	ENSP00000264811:I395M;ENSP00000368966:I468M;ENSP00000426899:I340M	ENSP00000264811:I395M	I	-	3	3	TRPC3	123052636	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.489000	0.45285	1.289000	0.44618	0.462000	0.41574	ATC	TRPC3	-	tigrfam_TRP_channel		0.448	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	G	NM_003305		122833186	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122833186	G	C	122833186	3	2	160	1	0	0	0	0	1	0	0	0	16610	932	33	1	1393	1	TRPC3	4	122833186	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	83525	122833186	68321090	644	28917										
KIAA1109	84162	genome.wustl.edu	37	chr4	123168401	123168401	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgccacaaagatgcagcctCagtcatctggatctctcaga	8	12	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:123168401C>T	ENST00000264501.4	+	35	5774	c.5401C>T	c.(5401-5403)Cag>Tag	p.Q1801*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q1801*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q1801*			Q2LD37	K1109_HUMAN	KIAA1109	1801					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGCAGCCTCAGTCATCTGG	0.403																																																	0													93	88	89					4																	123168401		1888	4128	6016	SO:0001587	stop_gained	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5401C>T	4.37:g.123168401C>T	ENSP00000264501:p.Gln1801*		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.Q1801*	ENST00000264501.4	37	c.5401	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.232974	0.99649	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	.	.	.	5.77	5.77	0.91146	.	0.000000	0.43416	U	0.000567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	19.9913	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	1801	.	ENSP00000264501:Q1801X	Q	+	1	0	KIAA1109	123387851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	2.734000	0.93682	0.585000	0.79938	CAG	KIAA1109	-	NULL		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123168401	1	no_errors	ENST00000264501	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	123168401	C	T	123168401	4	4	160	1	0	0	0	0	0	1	0	0	8228	827	29	1	5531	1	KIAA1109	4	123168401	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	335215	123168401	67985875	645	28918										
FAT4	79633	genome.wustl.edu	37	chr4	126337605	126337605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtatgtactgttctacaggtGgtggcaagagatgatgatcg	14	5	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:126337605G>A	ENST00000394329.3	+	6	6859	c.6846G>A	c.(6844-6846)gtG>gtA	p.V2282V	FAT4_ENST00000335110.5_Silent_p.V580V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2282	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTACAGGTGGTGGCAAGAG	0.368																																																	0													256	245	248					4																	126337605		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6846G>A	4.37:g.126337605G>A			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2282	ENST00000394329.3	37	c.6846	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126337605	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.989	A	A	126337605	G	A	126337605	2	1	160	1	0	0	0	0	0	0	0	1	5710	1335	47	4		4	FAT4	4	126337605	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3169204	126337605	64816671	646	28919										
PHF17	79960	genome.wustl.edu	37	chr4	129773220	129773220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttaacttcaggaatgcctGaactagatgaatacaccatg	7	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:129773220G>A	ENST00000226319.6	+	6	773	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	PHF17_ENST00000512960.1_Missense_Mutation_p.E165K|PHF17_ENST00000511647.1_Missense_Mutation_p.E165K|PHF17_ENST00000452328.2_Missense_Mutation_p.E153K|PHF17_ENST00000413543.2_Missense_Mutation_p.E165K	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGAATGCCTGAACTAGATGA	0.348																																																	0													81	76	78					4																	129773220		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.493G>A	4.37:g.129773220G>A	ENSP00000226319:p.Glu165Lys			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E165K	ENST00000226319.6	37	c.493	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934370	0.34096	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.38	5.38	0.77491	Enhancer of polycomb-like, N-terminal (1);	0.238306	0.42964	D	0.000629	T	0.45955	0.1368	L	0.41492	1.28	0.42234	D	0.9919	B;P;B	0.52316	0.109;0.952;0.014	B;P;B	0.51945	0.059;0.685;0.012	T	0.20773	-1.0265	9	.	.	.	.	14.8833	0.70550	0.0:0.1428:0.8572:0.0	.	153;165;165	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	K	165;165;153;165;165;165	ENSP00000226319:E165K;ENSP00000423737:E165K;ENSP00000388015:E153K;ENSP00000425730:E165K;ENSP00000404211:E165K	.	E	+	1	0	PHF17	129992670	0.961000	0.32948	0.288000	0.24862	0.466000	0.32739	3.384000	0.52478	2.793000	0.96121	0.655000	0.94253	GAA	PHF17	-	pfam_Enhancer_polycomb-like_N		0.348	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	G			129773220	1	no_errors	ENST00000226319	ensembl	human	known	70_37	missense	SNP	0.801	A	A	129773220	G	A	129773220	3	1	160	1	0	0	0	0	1	0	0	0	11852	1291	45	1	511	1	PHF17	4	129773220	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3435615	129773220	61381056	647	28920										
PCDH10	57575	genome.wustl.edu	37	chr4	134072556	134072556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatcgttaccgaagcccccCtggaccgagaggcgggggac	14	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:134072556C>T	ENST00000264360.5	+	1	2087	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAAGCCCCCCTGGACCGAGA	0.592																																																	0													149	164	159					4																	134072556		2202	4300	6502	SO:0001819	synonymous_variant	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1261C>T	4.37:g.134072556C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L421	ENST00000264360.5	37	c.1261	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134072556	1	no_errors	ENST00000264360	ensembl	human	known	70_37	silent	SNP	0.952	T	T	134072556	C	T	134072556	2	4	160	1	0	0	0	0	0	0	0	1	11531	680	24	4		4	PCDH10	4	134072556	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4299336	134072556	57081720	648	28921										
PCDH18	54510	genome.wustl.edu	37	chr4	138451743	138451743	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctccaagatggtgtatgtCacttgcccattttctccaag	7	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:138451743C>G	ENST00000344876.4	-	1	1886	c.1500G>C	c.(1498-1500)gtG>gtC	p.V500V	PCDH18_ENST00000412923.2_Silent_p.V500V|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.V280V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGTGTATGTCACTTGCCCAT	0.403																																																	0													130	130	130					4																	138451743		2203	4300	6503	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1500G>C	4.37:g.138451743C>G			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V500	ENST00000344876.4	37	c.1500	CCDS34064.1	4																																																																																			PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	C	NM_019035		138451743	-1	no_errors	ENST00000344876	ensembl	human	known	70_37	silent	SNP	0.347	G	G	138451743	C	G	138451743	2	3	160	1	0	0	0	0	0	0	0	1	11537	813	29	1		1	PCDH18	4	138451743	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4379187	138451743	52702533	649	28922										
CCRN4L	25819	genome.wustl.edu	37	chr4	139966097	139966097	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacagtgccaatattaggctGacagccatgacattgaaaac	8	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:139966097G>A	ENST00000280614.2	+	3	958	c.765G>A	c.(763-765)ctG>ctA	p.L255L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	255					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ATATTAGGCTGACAGCCATGA	0.463																																					Ovarian(144;566 1842 19130 21379 22209)												0													86	82	83					4																	139966097		2203	4300	6503	SO:0001819	synonymous_variant	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.765G>A	4.37:g.139966097G>A			D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L255	ENST00000280614.2	37	c.765	CCDS3743.1	4																																																																																			CCRN4L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.463	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	G	NM_012118		139966097	1	no_errors	ENST00000280614	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139966097	G	A	139966097	2	1	160	1	0	0	0	0	0	0	0	1	2956	1277	45	1		1	CCRN4L	4	139966097	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1514354	139966097	51188179	650	28923										
MAML3	55534	genome.wustl.edu	37	chr4	140811981	140811981	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgttactgggcaaattgttGatggcttccatccccgcaga	10	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:140811981G>C	ENST00000509479.2	-	2	1465	c.609C>G	c.(607-609)atC>atG	p.I203M	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.I47M	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCAAATTGTTGATGGCTTCCA	0.478																																																	0													86	83	84					4																	140811981		2043	4199	6242	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.609C>G	4.37:g.140811981G>C	ENSP00000421180:p.Ile203Met			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.I203M	ENST00000509479.2	37	c.609	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063895	0.36373	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.24151	1.87	5.3	3.23	0.37069	.	0.075148	0.53938	D	0.000048	T	0.23451	0.0567	L	0.36672	1.1	0.80722	D	1	P	0.45902	0.868	P	0.45506	0.483	T	0.02031	-1.1226	10	0.49607	T	0.09	.	10.2289	0.43243	0.2381:0.0:0.7619:0.0	.	203	Q96JK9	MAML3_HUMAN	M	203;47	ENSP00000421180:I203M	ENSP00000313316:I47M	I	-	3	3	MAML3	141031431	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.952000	0.29149	1.227000	0.43598	0.585000	0.79938	ATC	MAML3	-	NULL		0.478	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	G			140811981	-1	no_errors	ENST00000509479	ensembl	human	known	70_37	missense	SNP	0.997	C	C	140811981	G	C	140811981	3	2	160	1	0	0	0	0	1	0	0	0	9230	1280	45	1	2815	1	MAML3	4	140811981	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	845884	140811981	50342295	651	28924										
SMARCA5	8467	genome.wustl.edu	37	chr4	144456044	144456044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttcgtcgaattaaggctGatgttgaaaagagtttgcct	10	7	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:144456044G>C	ENST00000283131.3	+	10	1657	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	399					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATTAAGGCTGATGTTGAAAA	0.368																																																	0													113	99	104					4																	144456044		2203	4300	6503	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1195G>C	4.37:g.144456044G>C	ENSP00000283131:p.Asp399His			Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D399H	ENST00000283131.3	37	c.1195	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.110394	0.94292	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.94687	-3.49	5.64	5.64	0.86602	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.91196	3.185	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	D	0.98287	1.0511	10	0.87932	D	0	-14.9334	20.0804	0.97772	0.0:0.0:1.0:0.0	.	399	O60264	SMCA5_HUMAN	H	399;342;342	ENSP00000283131:D399H	ENSP00000283131:D399H	D	+	1	0	SMARCA5	144675494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.824000	0.97209	0.650000	0.86243	GAT	SMARCA5	-	pfam_SNF2_N		0.368	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	G			144456044	1	no_errors	ENST00000283131	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144456044	G	C	144456044	3	2	160	1	0	0	0	0	1	0	0	0	14801	1290	45	1	1233	1	SMARCA5	4	144456044	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3644063	144456044	46698232	652	28925										
SMARCA5	8467	genome.wustl.edu	37	chr4	144456055	144456055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attaaggctgatgttgaaaaGagtttgcctccaaagaagga	11	5	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:144456055G>C	ENST00000283131.3	+	10	1668	c.1206G>C	c.(1204-1206)aaG>aaC	p.K402N		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	402					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATGTTGAAAAGAGTTTGCCTC	0.363																																																	0													111	99	103					4																	144456055		2203	4300	6503	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1206G>C	4.37:g.144456055G>C	ENSP00000283131:p.Lys402Asn			Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K402N	ENST00000283131.3	37	c.1206	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757211	0.69648	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.94000	-3.33	5.64	3.83	0.44106	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.62088	1.915	0.52099	D	0.999946	P	0.41710	0.76	P	0.46208	0.507	D	0.90856	0.4735	10	0.87932	D	0	-1.3414	8.2201	0.31537	0.3531:0.0:0.6469:0.0	.	402	O60264	SMCA5_HUMAN	N	402;345;345	ENSP00000283131:K402N	ENSP00000283131:K402N	K	+	3	2	SMARCA5	144675505	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.948000	0.29096	0.765000	0.33221	0.650000	0.86243	AAG	SMARCA5	-	pfam_SNF2_N		0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	G			144456055	1	no_errors	ENST00000283131	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144456055	G	C	144456055	3	2	160	1	0	0	0	0	1	0	0	0	14801	933	33	1	1244	1	SMARCA5	4	144456055	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11	144456055	46698221	653	28926										
OTUD4	54726	genome.wustl.edu	37	chr4	146065559	146065559	+	Nonsense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacacatggattgctactctGagaagctgactgattgactg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:146065559G>A	ENST00000447906.2	-	15	1637	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.Q419*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	484					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTGCTACTCTGAGAAGCTGAC	0.368																																																	0													175	172	173					4																	146065559		2203	4300	6503	SO:0001587	stop_gained	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1450C>T	4.37:g.146065559G>A	ENSP00000395487:p.Gln484*		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.Q484*	ENST00000447906.2	37	c.1450		4	.	.	.	.	.	.	.	.	.	.	G	38	7.059250	0.98036	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	5.52	5.52	0.82312	.	0.218300	0.32769	N	0.005664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.747	17.2128	0.86935	0.0:0.0:1.0:0.0	.	.	.	.	X	419;484	.	ENSP00000395487:Q484X	Q	-	1	0	OTUD4	146285009	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.257000	0.65473	2.578000	0.87016	0.563000	0.77884	CAG	OTUD4	-	NULL		0.368	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	G	NM_017493		146065559	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	146065559	G	A	146065559	4	1	160	1	0	0	0	0	0	1	0	0	11338	1299	45	1	1922	1	OTUD4	4	146065559	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1609504	146065559	45088717	654	28927	182	2								
OTUD4	54726	genome.wustl.edu	37	chr4	146065567	146065567	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gattgctactctgagaagctGactgattgactgatgagctc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:146065567G>A	ENST00000447906.2	-	15	1629	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.S416L			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	481					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGAGAAGCTGACTGATTGAC	0.373																																																	0													166	164	165					4																	146065567		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1442C>T	4.37:g.146065567G>A	ENSP00000395487:p.Ser481Leu		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.S481L	ENST00000447906.2	37	c.1442		4	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383718	0.42308	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.32753	1.44;1.44	5.52	5.52	0.82312	.	0.672540	0.13554	N	0.379259	T	0.20455	0.0492	N	0.24115	0.695	0.80722	D	1	B;B	0.23249	0.082;0.049	B;B	0.25140	0.058;0.026	T	0.04229	-1.0967	10	0.08837	T	0.75	-0.8782	11.6627	0.51356	0.0824:0.0:0.9176:0.0	.	481;480	G3V0I6;Q01804	.;OTUD4_HUMAN	L	416;481	ENSP00000409279:S416L;ENSP00000395487:S481L	ENSP00000395487:S481L	S	-	2	0	OTUD4	146285017	0.890000	0.30428	0.970000	0.41538	0.935000	0.57460	3.595000	0.54016	2.578000	0.87016	0.563000	0.77884	TCA	OTUD4	-	NULL		0.373	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	G	NM_017493		146065567	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	missense	SNP	0.911	A	A	146065567	G	A	146065567	3	1	160	1	0	0	0	0	1	0	0	0	11338	1294	45	1	1930	1	OTUD4	4	146065567	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8	146065567	45088709	655	28928	182	2								
TRIM2	23321	genome.wustl.edu	37	chr4	154191652	154191652	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcccaaggttctcccctgtCtgcacactttctgcgagagg	9	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:154191652C>T	ENST00000437508.2	+	2	316	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.L66L	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	39					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCTCCCCTGTCTGCACACTTT	0.507																																																	0													145	125	132					4																	154191652		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.115C>T	4.37:g.154191652C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.L66	ENST00000437508.2	37	c.196	CCDS47147.1	4																																																																																			TRIM2	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.507	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	C			154191652	1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154191652	C	T	154191652	2	4	160	1	0	0	0	0	0	0	0	1	16525	912	32	1		1	TRIM2	4	154191652	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	8126085	154191652	36962624	656	28929										
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632252	156632252	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaaggctgatgaacaggaGagactttcaaggaaagccta	12	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:156632252G>A	ENST00000296518.7	+	6	1144	c.935G>A	c.(934-936)aGa>aAa	p.R312K	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R312K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R54K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R312K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	312					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAACAGGAGAGACTTTCAA	0.378																																																	0													69	69	69					4																	156632252		2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.935G>A	4.37:g.156632252G>A	ENSP00000296518:p.Arg312Lys		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R312K	ENST00000296518.7	37	c.935	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449859	0.43531	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.76	5.76	0.90799	Haem NO binding associated (1);	0.000000	0.64402	D	0.000001	D	0.82921	0.5142	L	0.27053	0.805	0.43471	D	0.995686	B;B	0.26318	0.146;0.024	B;B	0.33254	0.16;0.058	T	0.76495	-0.2938	10	0.20046	T	0.44	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	312;312	Q02108;D6RDW3	GCYA3_HUMAN;.	K	312;312;312;312;54;312;312	ENSP00000424361:R312K;ENSP00000421493:R312K;ENSP00000426968:R312K;ENSP00000412201:R312K;ENSP00000377418:R54K;ENSP00000296518:R312K;ENSP00000426040:R312K	ENSP00000296518:R312K	R	+	2	0	GUCY1A3	156851702	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	4.995000	0.63908	2.876000	0.98609	0.643000	0.83706	AGA	GUCY1A3	-	pfam_Haem_no_assoc-bd		0.378	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	G			156632252	1	no_errors	ENST00000296518	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156632252	G	A	156632252	3	1	160	1	0	0	0	0	1	0	0	0	6914	942	33	1	949	1	GUCY1A3	4	156632252	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2440600	156632252	34522024	657	28930										
FNIP2	57600	genome.wustl.edu	37	chr4	159789974	159789974	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagctttgcatctccagagtCtgactttgaaagccgcatga	9	10	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:159789974C>G	ENST00000264433.6	+	13	2261	c.2186C>G	c.(2185-2187)tCt>tGt	p.S729C	FNIP2_ENST00000379346.3_Missense_Mutation_p.S752C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	729	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCTCCAGAGTCTGACTTTGAA	0.557																																																	0													64	68	67					4																	159789974		1871	4102	5973	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2186C>G	4.37:g.159789974C>G	ENSP00000264433:p.Ser729Cys		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.S752C	ENST00000264433.6	37	c.2255	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502196	0.85176	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.48201	0.83;0.82	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	M	0.81942	2.565	0.51767	D	0.999935	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	9	.	.	.	.	19.7773	0.96399	0.0:1.0:0.0:0.0	.	729	Q9P278	FNIP2_HUMAN	C	729;752	ENSP00000264433:S729C;ENSP00000368651:S752C	.	S	+	2	0	FNIP2	160009424	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	6.775000	0.75018	2.746000	0.94184	0.655000	0.94253	TCT	FNIP2	-	NULL		0.557	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	C	NM_020840		159789974	1	no_errors	ENST00000379346	ensembl	human	known	70_37	missense	SNP	1.000	G	G	159789974	C	G	159789974	3	3	160	1	0	0	0	0	1	0	0	0	5994	913	32	1	2236	1	FNIP2	4	159789974	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3157722	159789974	31364302	658	28931										
FSTL5	56884	genome.wustl.edu	37	chr4	162431553	162431553	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataattcaacttagtaccttCttctctccataatatgttag	3	9	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:162431553C>T	ENST00000306100.5	-	11	1772	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	FSTL5_ENST00000379164.4_Missense_Mutation_p.E445K|FSTL5_ENST00000427802.2_Intron|FSTL5_ENST00000536695.1_Missense_Mutation_p.E445K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	446						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAGTACCTTCTTCTCTCCAT	0.249																																																	0													46	46	46					4																	162431553		2191	4268	6459	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1336G>A	4.37:g.162431553C>T	ENSP00000305334:p.Glu446Lys		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.E446K	ENST00000306100.5	37	c.1336	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829593	0.71258	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000536695	T;T;T	0.72835	-0.69;-0.67;-0.67	5.4	5.4	0.78164	.	0.048523	0.85682	D	0.000000	T	0.66147	0.2760	L	0.57536	1.79	0.48087	D	0.999584	P;B	0.38827	0.649;0.22	B;B	0.38264	0.269;0.079	T	0.65076	-0.6256	10	0.30854	T	0.27	.	12.4534	0.55688	0.0:0.8314:0.1686:0.0	.	445;446	F8VZ90;Q8N475	.;FSTL5_HUMAN	K	446;445;445	ENSP00000305334:E446K;ENSP00000368462:E445K;ENSP00000440409:E445K	ENSP00000305334:E446K	E	-	1	0	FSTL5	162651003	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.102000	0.50291	2.522000	0.85027	0.557000	0.71058	GAA	FSTL5	-	NULL		0.249	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162431553	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162431553	C	T	162431553	3	4	160	1	0	0	0	0	1	0	0	0	6098	922	32	1	1231	1	FSTL5	4	162431553	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2641579	162431553	28722723	659	28932										
NPY5R	4889	genome.wustl.edu	37	chr4	164272489	164272489	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaattgagagtaaaacgttCtgttacaagaataaaaaaga	8	3	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:164272489C>T	ENST00000515560.1	+	4	2586	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	NPY5R_ENST00000338566.3_Missense_Mutation_p.S355F|NPY5R_ENST00000506953.1_Missense_Mutation_p.S355F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	355					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTAAAACGTTCTGTTACAAGA	0.378																																					Melanoma(139;1287 1774 9781 19750 25599)												0													88	86	87					4																	164272489		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1064C>T	4.37:g.164272489C>T	ENSP00000423917:p.Ser355Phe		Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S355F	ENST00000515560.1	37	c.1064	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275178	0.59649	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.50813	0.73;0.73;0.73	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.67646	0.2915	M	0.81112	2.525	0.46725	D	0.999171	P	0.50272	0.933	P	0.57776	0.827	T	0.73914	-0.3832	10	0.72032	D	0.01	.	18.061	0.89377	0.0:1.0:0.0:0.0	.	355	Q15761	NPY5R_HUMAN	F	355	ENSP00000339377:S355F;ENSP00000423917:S355F;ENSP00000423474:S355F	ENSP00000339377:S355F	S	+	2	0	NPY5R	164491939	1.000000	0.71417	0.068000	0.19968	0.901000	0.52897	5.577000	0.67444	2.433000	0.82419	0.467000	0.42956	TCT	NPY5R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt		0.378	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	C	NM_006174		164272489	1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.973	T	T	164272489	C	T	164272489	3	4	160	1	0	0	0	0	1	0	0	0	10634	913	32	1	1066	1	NPY5R	4	164272489	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1840936	164272489	26881787	660	28933										
CBR4	84869	genome.wustl.edu	37	chr4	169911336	169911336	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taatcccccatccactaccaGaacatgccctgtaatatacg	4	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:169911336G>C	ENST00000306193.3	-	5	847	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	CBR4_ENST00000509108.1_Intron	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	227					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCCACTACCAGAACATGCCCT	0.393																																																	0													120	116	118					4																	169911336		2203	4300	6503	SO:0001583	missense	84869			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	25891	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 45C, member 1"					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.679C>G	4.37:g.169911336G>C	ENSP00000303525:p.Leu227Val		Q8WTW8|Q96K93	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L227V	ENST00000306193.3	37	c.679	CCDS3812.1	4	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150514	0.37923	.	.	ENSG00000145439	ENST00000306193	D	0.87887	-2.31	5.46	4.58	0.56647	NAD(P)-binding domain (1);	0.147077	0.46758	D	0.000268	T	0.79028	0.4377	N	0.12887	0.27	0.80722	D	1	D	0.59357	0.985	P	0.49528	0.614	T	0.76252	-0.3027	9	.	.	.	.	9.0711	0.36493	0.1762:0.0:0.8238:0.0	.	227	Q8N4T8	CBR4_HUMAN	V	227	ENSP00000303525:L227V	.	L	-	1	2	CBR4	170147911	1.000000	0.71417	0.198000	0.23420	0.031000	0.12232	2.046000	0.41260	1.229000	0.43630	0.557000	0.71058	CTG	CBR4	-	NULL		0.393	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR4	HGNC	protein_coding	OTTHUMT00000363441.2	G	NM_032783		169911336	-1	no_errors	ENST00000306193	ensembl	human	known	70_37	missense	SNP	1.000	C	C	169911336	G	C	169911336	3	2	160	1	0	0	0	0	1	0	0	0	2715	933	33	1	38	1	CBR4	4	169911336	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5638847	169911336	21242940	661	28934										
VEGFC	7424	genome.wustl.edu	37	chr4	177713327	177713327	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgcagacctaccgtggcctCgcccgcgtcgggctccgcgt	13	18	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:177713327C>G	ENST00000280193.2	-	1	554	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	47					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E47K(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACCGTGGCCTCGCCCGCGTCG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											18	22	21					4																	177713327		1871	4086	5957	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.139G>C	4.37:g.177713327C>G	ENSP00000280193:p.Glu47Gln		B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E47Q	ENST00000280193.2	37	c.139	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573310	0.45902	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.3	4.3	0.51218	.	0.089559	0.43110	D	0.000613	T	0.50086	0.1595	L	0.57536	1.79	0.35653	D	0.81189	P	0.34815	0.47	B	0.27170	0.077	T	0.63047	-0.6724	9	0.38643	T	0.18	-12.749	13.4717	0.61285	0.0:1.0:0.0:0.0	.	47	P49767	VEGFC_HUMAN	Q	47	.	ENSP00000280193:E47Q	E	-	1	0	VEGFC	177950321	0.959000	0.32827	0.997000	0.53966	0.347000	0.29111	2.139000	0.42149	1.938000	0.56188	0.305000	0.20034	GAG	VEGFC	-	NULL		0.721	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	C	NM_005429		177713327	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	0.963	G	G	177713327	C	G	177713327	3	3	160	1	0	0	0	0	1	0	0	0	17183	893	31	1	1151	1	VEGFC	4	177713327	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7801991	177713327	13440949	662	28935										
ODZ3	55714	genome.wustl.edu	37	chr4	183601861	183601861	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggctcttgtgcttgcaactCaggatacaaaggagaaagtt	12	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:183601861C>G	ENST00000511685.1	+	10	1928	c.1805C>G	c.(1804-1806)tCa>tGa	p.S602*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.S602*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	602	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCTTGCAACTCAGGATACAAA	0.438																																																	0													85	86	86					4																	183601861		1885	4101	5986	SO:0001587	stop_gained	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1805C>G	4.37:g.183601861C>G	ENSP00000424226:p.Ser602*		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S602*	ENST00000511685.1	37	c.1805	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.084316	0.98646	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	.	.	.	X	602	.	ENSP00000385276:S602X	S	+	2	0	ODZ3	183838855	1.000000	0.71417	0.970000	0.41538	0.887000	0.51463	5.893000	0.69798	2.857000	0.98124	0.650000	0.86243	TCA	TENM3	-	pfam_EGF_extracell,smart_EG-like_dom		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	C			183601861	1	no_errors	ENST00000406950	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	183601861	C	G	183601861	4	3	160	1	0	0	0	0	0	1	0	0	10860	838	29	1	1839	1	ODZ3	4	183601861	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5888534	183601861	7552415	663	28936										
WWC2	80014	genome.wustl.edu	37	chr4	184182427	184182427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctccctgtcctcgaggtccTccctttcctccttgtctcct	5	20	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:184182427T>C	ENST00000403733.3	+	11	1850	c.1651T>C	c.(1651-1653)Tcc>Ccc	p.S551P	WWC2_ENST00000513834.1_Missense_Mutation_p.S551P|WWC2_ENST00000378925.3_Missense_Mutation_p.S453P|WWC2_ENST00000448232.2_Missense_Mutation_p.S551P|WWC2_ENST00000504005.1_Missense_Mutation_p.S233P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	551					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTCGAGGTCCTCCCTTTCCTC	0.582																																																	0													103	77	85					4																	184182427		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1651T>C	4.37:g.184182427T>C	ENSP00000384222:p.Ser551Pro		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S551P	ENST00000403733.3	37	c.1651	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222972	0.79464	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.24908	2.59;1.83;2.59;2.42;2.46	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000003	T	0.54727	0.1876	M	0.86502	2.82	0.54753	D	0.999987	D;D	0.89917	0.999;1.0	D;D	0.87578	0.941;0.998	T	0.57883	-0.7734	10	0.29301	T	0.29	-17.1127	14.8308	0.70146	0.0:0.0:0.0:1.0	.	551;551	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	P	551;453;551;551;233	ENSP00000384222:S551P;ENSP00000368205:S453P;ENSP00000425054:S551P;ENSP00000398577:S551P;ENSP00000427569:S233P	ENSP00000368205:S453P	S	+	1	0	WWC2	184419421	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.493000	0.81493	2.095000	0.63458	0.477000	0.44152	TCC	WWC2	-	NULL		0.582	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	T	NM_024949		184182427	1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184182427	T	C	184182427	3	2	160	1	0	0	0	0	1	0	0	0	17443	1551	54	5	1693	5	WWC2	4	184182427	Missense_Mutation	SNP	T	TCGA-JW-A5VL-01A-11D-A28B-09	580566	184182427	6971849	664	28937										
C4orf41	60684	genome.wustl.edu	37	chr4	184585162	184585162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcaaatcggagagctgatCgagtaccaatttctttcaag	10	8	2	2	rs150331292		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:184585162C>T	ENST00000334690.6	+	2	344	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.R48*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	48					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GAGAGCTGATCGAGTACCAAT	0.488																																																	0								C	stop/ARG,stop/ARG	0,4406		0,0,2203	156	146	149		142,142	5.2	1	4	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	C4orf41	NM_021942.4,NM_199053.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	48/1134,48/1087	184585162	1,13005	2203	4300	6503	SO:0001587	stop_gained	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.142C>T	4.37:g.184585162C>T	ENSP00000335371:p.Arg48*		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.R48*	ENST00000334690.6	37	c.142	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.326622	0.98214	0.0	1.16E-4	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8139	0.70017	0.2618:0.7382:0.0:0.0	.	.	.	.	X	48	.	ENSP00000335371:R48X	R	+	1	2	C4orf41	184822156	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.374000	0.44274	1.540000	0.49301	0.655000	0.94253	CGA	TRAPPC11	-	NULL		0.488	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184585162	1	no_errors	ENST00000334690	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	184585162	C	T	184585162	4	4	160	1	0	0	0	0	0	1	0	0	2275	876	31	1	144	1	C4orf41	4	184585162	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	402735	184585162	6569114	665	28938										
C4orf41	60684	genome.wustl.edu	37	chr4	184585175	184585175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgatcgagtaccaatttCtttcaaggtgctcccaggtg	10	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:184585175C>G	ENST00000334690.6	+	2	357	c.155C>G	c.(154-156)tCt>tGt	p.S52C	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S52C	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	52					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTACCAATTTCTTTCAAGGTG	0.468																																																	0													149	141	144					4																	184585175		2203	4300	6503	SO:0001583	missense	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.155C>G	4.37:g.184585175C>G	ENSP00000335371:p.Ser52Cys		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.S52C	ENST00000334690.6	37	c.155	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173091	0.78452	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	N	0.22421	0.69	0.80722	D	1	D;D	0.63046	0.985;0.992	P;P	0.56216	0.628;0.794	T	0.63143	-0.6703	9	0.59425	D	0.04	.	20.1617	0.98138	0.0:1.0:0.0:0.0	.	52;52	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	C	52	.	ENSP00000335371:S52C	S	+	2	0	C4orf41	184822169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.516000	0.81772	2.854000	0.98071	0.655000	0.94253	TCT	TRAPPC11	-	NULL		0.468	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184585175	1	no_errors	ENST00000334690	ensembl	human	known	70_37	missense	SNP	1.000	G	G	184585175	C	G	184585175	3	3	160	1	0	0	0	0	1	0	0	0	2275	913	32	1	157	1	C4orf41	4	184585175	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	13	184585175	6569101	666	28939										
CASP3	836	genome.wustl.edu	37	chr4	185552278	185552278	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaacaccactgtctgtctCaatgccacagtccagttctg	6	14	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr4:185552278C>G	ENST00000308394.4	-	7	779	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	CASP3_ENST00000523916.1_Missense_Mutation_p.E173Q|CASP3_ENST00000393585.2_Intron|CASP3_ENST00000393588.4_Intron|CASP3_ENST00000517513.1_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	173					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	CTGTCTGTCTCAATGCCACAG	0.413																																																	0													100	87	91					4																	185552278		2203	4300	6503	SO:0001583	missense	836			BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"Caspases"	1504	protein-coding gene	gene with protein product		600636	"caspase 3, apoptosis-related cysteine protease"			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.517G>C	4.37:g.185552278C>G	ENSP00000311032:p.Glu173Gln		A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E173Q	ENST00000308394.4	37	c.517	CCDS3836.1	4	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340934	0.60963	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	T;T	0.21361	2.01;2.01	5.7	5.7	0.88788	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.044485	0.85682	D	0.000000	T	0.28433	0.0703	M	0.79011	2.435	0.80722	D	1	P	0.37352	0.591	B	0.33690	0.168	T	0.09707	-1.0662	10	0.19147	T	0.46	.	19.8336	0.96646	0.0:1.0:0.0:0.0	.	173	P42574	CASP3_HUMAN	Q	173	ENSP00000311032:E173Q;ENSP00000428929:E173Q	ENSP00000311032:E173Q	E	-	1	0	CASP3	185789272	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.919000	0.63383	2.701000	0.92244	0.561000	0.74099	GAG	CASP3	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core		0.413	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP3	HGNC	protein_coding	OTTHUMT00000257885.2	C	NM_004346		185552278	-1	no_errors	ENST00000308394	ensembl	human	known	70_37	missense	SNP	1.000	G	G	185552278	C	G	185552278	3	3	160	1	0	0	0	0	1	0	0	0	2677	835	29	1	324	1	CASP3	4	185552278	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	967103	185552278	5601998	667	28940										
SDHA	6389	genome.wustl.edu	37	chr5	228353	228353	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattttgccttggatctcctGatggagaatggggagtgccg	14	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:228353G>C	ENST00000264932.6	+	6	790	c.675G>C	c.(673-675)ctG>ctC	p.L225L	SDHA_ENST00000504309.1_Silent_p.L225L|SDHA_ENST00000510361.1_Silent_p.L177L	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	225					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGGATCTCCTGATGGAGAATG	0.458									Familial Paragangliomas																																								0													89	85	86					5																	228353		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.675G>C	5.37:g.228353G>C			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.L225	ENST00000264932.6	37	c.675	CCDS3853.1	5																																																																																			SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.458	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		228353	1	no_errors	ENST00000264932	ensembl	human	known	70_37	silent	SNP	1.000	C	C	228353	G	C	228353	2	2	160	1	0	0	0	0	0	0	0	1	13993	1277	45	1		1	SDHA	5	228353	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		228353	180686907	668	28941										
AHRR	57491	genome.wustl.edu	37	chr5	428077	428077	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaatgaggagcgcgctcctGagggcaaaacccagagcaga	13	10	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:428077G>C	ENST00000505113.1	+	8	920	c.876G>C	c.(874-876)ctG>ctC	p.L292L	AHRR_ENST00000512529.1_Silent_p.L138L|AHRR_ENST00000506456.1_Silent_p.L148L|AHRR_ENST00000316418.5_Silent_p.L310L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	292					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCGCGCTCCTGAGGGCAAAAC	0.637																																																	0													25	30	28					5																	428077		2028	4177	6205	SO:0001819	synonymous_variant	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.876G>C	5.37:g.428077G>C			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.L310	ENST00000505113.1	37	c.930	CCDS56355.1	5																																																																																			AHRR	-	NULL		0.637	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	G	NM_020731		428077	1	no_errors	ENST00000316418	ensembl	human	known	70_37	silent	SNP	0.721	C	C	428077	G	C	428077	2	2	160	1	0	0	0	0	0	0	0	1	417	1277	45	1		1	AHRR	5	428077	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	199724	428077	180487183	669	28942										
TRIP13	9319	genome.wustl.edu	37	chr5	908479	908479	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcccaacaggtggagagtCtcacagccgcccgaaatgcc	10	16	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:908479C>G	ENST00000166345.3	+	9	1125	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	257					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGTGGAGAGTCTCACAGCCGC	0.567																																																	0													49	52	51					5																	908479		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.769C>G	5.37:g.908479C>G	ENSP00000166345:p.Leu257Val		C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,prints_Chaprnin_ClpA/B	p.L257V	ENST00000166345.3	37	c.769	CCDS3858.1	5	.	.	.	.	.	.	.	.	.	.	.	25.5	4.649161	0.87958	.	.	ENSG00000071539	ENST00000166345	D	0.94417	-3.42	6.08	5.2	0.72013	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97551	0.9198	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97697	1.0182	10	0.72032	D	0.01	-17.5002	14.4928	0.67663	0.0:0.9296:0.0:0.0704	.	257	Q15645	PCH2_HUMAN	V	257	ENSP00000166345:L257V	ENSP00000166345:L257V	L	+	1	0	TRIP13	961479	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.469000	0.60169	2.894000	0.99253	0.655000	0.94253	CTC	TRIP13	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.567	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP13	HGNC	protein_coding	OTTHUMT00000206721.2	C	NM_004237		908479	1	no_errors	ENST00000166345	ensembl	human	known	70_37	missense	SNP	1.000	G	G	908479	C	G	908479	3	3	160	1	0	0	0	0	1	0	0	0	16588	913	32	1	803	1	TRIP13	5	908479	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	480402	908479	180006781	670	28943										
KIAA0947	23379	genome.wustl.edu	37	chr5	5457651	5457651	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttctgaccatgtttttaatGagaatggaaatcttgaggtt	10	4	2	3	rs371649815		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:5457651G>C	ENST00000296564.7	+	12	1120	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		300					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTTTTTAATGAGAATGGAAA	0.363																																																	0													103	101	101					5																	5457651		1884	4103	5987	SO:0001583	missense	23379																														ENST00000296564.7:c.898G>C	5.37:g.5457651G>C	ENSP00000296564:p.Glu300Gln		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E300Q	ENST00000296564.7	37	c.898	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550217	0.45383	.	.	ENSG00000164151	ENST00000296564	T	0.15603	2.41	4.85	3.94	0.45596	.	0.731266	0.12378	N	0.474129	T	0.21590	0.0520	L	0.32530	0.975	0.09310	N	1	D	0.57257	0.979	P	0.53518	0.728	T	0.08806	-1.0704	10	0.87932	D	0	-11.1658	7.8102	0.29226	0.1247:0.0:0.8753:0.0	.	300	Q9Y2F5	K0947_HUMAN	Q	300	ENSP00000296564:E300Q	ENSP00000296564:E300Q	E	+	1	0	KIAA0947	5510651	0.517000	0.26226	0.013000	0.15412	0.018000	0.09664	1.966000	0.40481	0.942000	0.37525	0.555000	0.69702	GAG	KIAA0947	-	NULL		0.363	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5457651	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.067	C	C	5457651	G	C	5457651	3	2	160	1	0	0	0	0	1	0	0	0	8222	1291	45	1	944	1	KIAA0947	5	5457651	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4549172	5457651	175457609	671	28944										
KIAA0947	23379	genome.wustl.edu	37	chr5	5462697	5462697	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaaacatggagagacacagGatacctcccaaagtagcctg	10	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:5462697G>C	ENST00000296564.7	+	13	3472	c.3250G>C	c.(3250-3252)Gat>Cat	p.D1084H		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1084					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAGACACAGGATACCTCCCA	0.483																																																	0													96	96	96					5																	5462697		1949	4150	6099	SO:0001583	missense	23379																														ENST00000296564.7:c.3250G>C	5.37:g.5462697G>C	ENSP00000296564:p.Asp1084His		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.D1084H	ENST00000296564.7	37	c.3250	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	g	13.35	2.210995	0.39102	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	4.08	-0.0259	0.13933	.	2.179350	0.02449	N	0.085328	T	0.04952	0.0133	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32052	-0.9921	10	0.27785	T	0.31	0.8406	3.7742	0.08653	0.3204:0.1928:0.4867:0.0	.	1084	Q9Y2F5	K0947_HUMAN	H	1084	ENSP00000296564:D1084H	ENSP00000296564:D1084H	D	+	1	0	KIAA0947	5515697	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.130000	0.10498	0.186000	0.20125	0.306000	0.20318	GAT	KIAA0947	-	NULL		0.483	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5462697	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5462697	G	C	5462697	3	2	160	1	0	0	0	0	1	0	0	0	8222	1174	41	1	3300	1	KIAA0947	5	5462697	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5046	5462697	175452563	672	28945										
ADCY2	108	genome.wustl.edu	37	chr5	7802394	7802394	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctccattccggatttcaaaGaattttatacagaatccgac	5	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:7802394G>C	ENST00000338316.4	+	21	2781	c.2692G>C	c.(2692-2694)Gaa>Caa	p.E898Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.E718Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	898					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGATTTCAAAGAATTTTATAC	0.478																																																	0													81	82	81					5																	7802394		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2692G>C	5.37:g.7802394G>C	ENSP00000342952:p.Glu898Gln		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E898Q	ENST00000338316.4	37	c.2692	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199024	0.79015	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.30714	1.52;1.52	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.987	T	0.51482	-0.8700	10	0.48119	T	0.1	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	718;898	B7Z2C1;Q08462	.;ADCY2_HUMAN	Q	898;51;731;718	ENSP00000342952:E898Q;ENSP00000444803:E718Q	ENSP00000342952:E898Q	E	+	1	0	ADCY2	7855394	1.000000	0.71417	0.564000	0.28396	0.562000	0.35680	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GAA	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	G	NM_020546		7802394	1	no_errors	ENST00000338316	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7802394	G	C	7802394	3	2	160	1	0	0	0	0	1	0	0	0	294	943	33	1	2774	1	ADCY2	5	7802394	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2339697	7802394	173112866	673	28946										
FASTKD3	79072	genome.wustl.edu	37	chr5	7866836	7866836	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcattcattaagtgaacatGaatgaagaagtttcaataat	8	4	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:7866836G>A	ENST00000264669.5	-	2	1497	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	454					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGTGAACATGAATGAAGAAG	0.368																																																	0													62	64	64					5																	7866836		2203	4300	6503	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1361C>T	5.37:g.7866836G>A	ENSP00000264669:p.Ser454Leu		Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.S454L	ENST00000264669.5	37	c.1361	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583422	0.65992	.	.	ENSG00000124279	ENST00000264669	T	0.66460	-0.21	4.95	4.95	0.65309	FAST kinase leucine-rich (1);	0.066076	0.64402	D	0.000006	T	0.74520	0.3727	L	0.41961	1.31	0.58432	D	0.999999	D	0.65815	0.995	P	0.60949	0.881	T	0.75243	-0.3386	10	0.49607	T	0.09	-20.0253	18.3841	0.90461	0.0:0.0:1.0:0.0	.	454	Q14CZ7	FAKD3_HUMAN	L	454	ENSP00000264669:S454L	ENSP00000264669:S454L	S	-	2	0	FASTKD3	7919836	1.000000	0.71417	0.939000	0.37840	0.663000	0.39108	7.056000	0.76662	2.548000	0.85928	0.655000	0.94253	TCA	FASTKD3	-	pfam_FAST_Leu-rich		0.368	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	G	NM_024091		7866836	-1	no_errors	ENST00000264669	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7866836	G	A	7866836	3	1	160	1	0	0	0	0	1	0	0	0	5705	1294	45	1	651	1	FASTKD3	5	7866836	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	64442	7866836	173048424	674	28947										
MARCH6	10299	genome.wustl.edu	37	chr5	10394201	10394201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attatattttcagatgacatGaattggaatgctttagaatg	8	3	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:10394201G>A	ENST00000274140.5	+	8	906	c.774G>A	c.(772-774)atG>atA	p.M258I	MARCH6_ENST00000449913.2_Missense_Mutation_p.M210I|MARCH6_ENST00000503788.1_Missense_Mutation_p.M153I	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	258					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGATGACATGAATTGGAATG	0.284																																																	0													61	61	61					5																	10394201		2203	4299	6502	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.774G>A	5.37:g.10394201G>A	ENSP00000274140:p.Met258Ile		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.M258I	ENST00000274140.5	37	c.774	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129156	0.56721	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.41758	1.99;0.99;1.99	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	N	0.01705	-0.755	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.11060	-1.0603	10	0.19147	T	0.46	-34.4218	19.1444	0.93459	0.0:0.0:1.0:0.0	.	153;210;258	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	I	210;153;258	ENSP00000414643:M210I;ENSP00000425930:M153I;ENSP00000274140:M258I	ENSP00000274140:M258I	M	+	3	0	MARCH6	10447201	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.505000	0.97989	2.523000	0.85059	0.585000	0.79938	ATG	MARCH6	-	NULL		0.284	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10394201	1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10394201	G	A	10394201	3	1	160	1	0	0	0	0	1	0	0	0	9328	1290	45	1	804	1	MARCH6	5	10394201	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2527365	10394201	170521059	675	28948										
DNAH5	1767	genome.wustl.edu	37	chr5	13841827	13841827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggaaggatgaaagaaattCagttagttggaaacctgttt	12	3	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:13841827C>T	ENST00000265104.4	-	33	5562	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1820	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGAAATTCAGTTAGTTGG	0.368									Kartagener syndrome																																								0													91	90	90					5																	13841827		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5458G>A	5.37:g.13841827C>T	ENSP00000265104:p.Glu1820Lys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1820K	ENST00000265104.4	37	c.5458	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692186	0.68271	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	6.03	6.03	0.97812	.	0.099077	0.64402	D	0.000002	T	0.30572	0.0769	L	0.55213	1.73	0.58432	D	0.999996	B	0.16802	0.019	B	0.25140	0.058	T	0.07849	-1.0751	10	0.18710	T	0.47	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1820	Q8TE73	DYH5_HUMAN	K	1820	ENSP00000265104:E1820K	ENSP00000265104:E1820K	E	-	1	0	DNAH5	13894827	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.036000	0.70948	2.861000	0.98227	0.655000	0.94253	GAA	DNAH5	-	NULL		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369		13841827	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13841827	C	T	13841827	3	4	160	1	0	0	0	0	1	0	0	0	4614	835	29	1	8604	1	DNAH5	5	13841827	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3447626	13841827	167073433	676	28949										
MYO10	4651	genome.wustl.edu	37	chr5	16818160	16818160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgctggaataagttatacatGatggagccgccatggagctc	12	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:16818160G>A	ENST00000513610.1	-	3	691	c.237C>T	c.(235-237)atC>atT	p.I79I	MYO10_ENST00000507288.1_Silent_p.I79I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	79	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTTATACATGATGGAGCCGC	0.443																																																	0													51	52	52					5																	16818160		1936	4124	6060	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.237C>T	5.37:g.16818160G>A			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.I79	ENST00000513610.1	37	c.237	CCDS54834.1	5																																																																																			MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.443	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	G	NM_012334		16818160	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	silent	SNP	0.995	A	A	16818160	G	A	16818160	2	1	160	1	0	0	0	0	0	0	0	1	10085	1280	45	1		1	MYO10	5	16818160	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2976333	16818160	164097100	677	28950										
CDH12	1010	genome.wustl.edu	37	chr5	21817228	21817228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggggaagactcaggaactttCaagtggaagatgcctgataa	13	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:21817228C>G	ENST00000382254.1	-	9	1914	c.828G>C	c.(826-828)ttG>ttC	p.L276F	CDH12_ENST00000504376.2_Missense_Mutation_p.L276F|CDH12_ENST00000522262.1_Missense_Mutation_p.L236F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGGAACTTTCAAGTGGAAGA	0.358										HNSCC(59;0.17)																																							0													51	51	51					5																	21817228		2203	4299	6502	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.828G>C	5.37:g.21817228C>G	ENSP00000371689:p.Leu276Phe		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L276F	ENST00000382254.1	37	c.828	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	0.266	-0.996352	0.02145	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.48522	0.81;0.81;0.81	4.97	2.72	0.32119	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.03608	-0.345	0.44685	D	0.997675	B;D	0.89917	0.011;1.0	B;D	0.87578	0.075;0.998	T	0.34950	-0.9808	10	0.02654	T	1	.	8.9255	0.35637	0.0:0.6607:0.0:0.3393	.	236;276	B7Z2U6;P55289	.;CAD12_HUMAN	F	276;276;236	ENSP00000423577:L276F;ENSP00000371689:L276F;ENSP00000428786:L236F	ENSP00000371689:L276F	L	-	3	2	CDH12	21852985	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.743000	0.26231	1.169000	0.42739	0.585000	0.79938	TTG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.358	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	C	NM_004061		21817228	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21817228	C	G	21817228	3	3	160	1	0	0	0	0	1	0	0	0	3103	825	29	1	1584	1	CDH12	5	21817228	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4999068	21817228	159098032	678	28951										
RNASEN	29102	genome.wustl.edu	37	chr5	31409384	31409384	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgtggaaagaagcagacattCatgaaagtatgaacatattc	9	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:31409384C>G	ENST00000511367.2	-	31	3967	c.3723G>C	c.(3721-3723)atG>atC	p.M1241I	DROSHA_ENST00000344624.3_Missense_Mutation_p.M1241I|DROSHA_ENST00000513349.1_Missense_Mutation_p.M1204I|DROSHA_ENST00000442743.1_Missense_Mutation_p.M1204I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1241	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCAGACATTCATGAAAGTAT	0.338																																																	0													56	49	51					5																	31409384		1833	4097	5930	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3723G>C	5.37:g.31409384C>G	ENSP00000425979:p.Met1241Ile		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.M1241I	ENST00000511367.2	37	c.3723	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385927	0.42308	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.34	5.34	0.76211	Ribonuclease III (3);	0.080239	0.85682	D	0.000000	T	0.15739	0.0379	N	0.00859	-1.14	0.80722	D	1	B;B	0.17852	0.024;0.012	B;B	0.19148	0.024;0.01	T	0.15665	-1.0429	10	0.27082	T	0.32	-18.9812	19.0541	0.93056	0.0:1.0:0.0:0.0	.	1204;1241	E7EMP9;Q9NRR4	.;RNC_HUMAN	I	1241;1241;1204;1204;1166	ENSP00000425979:M1241I;ENSP00000339845:M1241I;ENSP00000409335:M1204I;ENSP00000424161:M1204I	ENSP00000265075:M1166I	M	-	3	0	DROSHA	31445141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.037000	0.76531	2.508000	0.84585	0.655000	0.94253	ATG	DROSHA	-	superfamily_RNase_III_dom,smart_RNase_III_dom		0.338	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	C	NM_013235		31409384	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31409384	C	G	31409384	3	3	160	1	0	0	0	0	1	0	0	0	13447	826	29	1	421	1	RNASEN	5	31409384	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9592156	31409384	149505876	679	28952										
PDZD2	23037	genome.wustl.edu	37	chr5	32048674	32048674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgccttgagtcagttgaaGaatataacgagctgatggtg	12	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:32048674G>A	ENST00000438447.1	+	8	1937	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E517K			O15018	PDZD2_HUMAN	PDZ domain containing 2	517					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCAGTTGAAGAATATAACGA	0.522																																																	0													50	52	51					5																	32048674		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1549G>A	5.37:g.32048674G>A	ENSP00000402033:p.Glu517Lys		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E517K	ENST00000438447.1	37	c.1549	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.393874	0.96009	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.07908	3.15;3.15	5.71	5.71	0.89125	.	0.000000	0.46758	D	0.000268	T	0.20618	0.0496	L	0.32530	0.975	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.00316	-1.1823	10	0.48119	T	0.1	.	17.3615	0.87351	0.0:0.0:1.0:0.0	.	343;517	B4E3P2;O15018	.;PDZD2_HUMAN	K	517	ENSP00000402033:E517K;ENSP00000282493:E517K	ENSP00000282493:E517K	E	+	1	0	PDZD2	32084431	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.899000	0.87370	2.709000	0.92574	0.655000	0.94253	GAA	PDZD2	-	NULL		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32048674	1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32048674	G	A	32048674	3	1	160	1	0	0	0	0	1	0	0	0	11725	943	33	1	1575	1	PDZD2	5	32048674	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	639290	32048674	148866586	680	28953										
NPR3	4883	genome.wustl.edu	37	chr5	32774868	32774868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctcctctacgtcttggctCtacatgaagtactcagagct	7	13	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:32774868C>G	ENST00000265074.8	+	4	1457	c.1114C>G	c.(1114-1116)Cta>Gta	p.L372V	NPR3_ENST00000434067.2_Missense_Mutation_p.L156V|NPR3_ENST00000415167.2_Missense_Mutation_p.L372V|NPR3_ENST00000415685.2_Missense_Mutation_p.L156V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	372					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGTCTTGGCTCTACATGAAGT	0.433																																																	0													204	191	195					5																	32774868		1894	4117	6011	SO:0001583	missense	4883				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1114C>G	5.37:g.32774868C>G	ENSP00000265074:p.Leu372Val		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.L372V	ENST00000265074.8	37	c.1114	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511631	0.44660	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;D;D	0.88046	-1.3;-1.3;-1.3;-2.33;-2.33	5.87	3.56	0.40772	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	L	0.49699	1.58	0.45867	D	0.998725	P;P;D;D	0.89917	0.802;0.838;1.0;1.0	B;B;D;D	0.85130	0.325;0.401;0.997;0.997	D	0.87444	0.2397	10	0.49607	T	0.09	-9.2679	8.5558	0.33480	0.0:0.163:0.0:0.837	.	156;156;372;372	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	V	149;156;156;372;372	ENSP00000425325:L149V;ENSP00000388408:L156V;ENSP00000402490:L156V;ENSP00000265074:L372V;ENSP00000398028:L372V	ENSP00000265074:L372V	L	+	1	2	NPR3	32810625	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.716000	0.47219	0.516000	0.28340	0.655000	0.94253	CTA	NPR3	-	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt		0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	C	NM_000908		32774868	1	no_errors	ENST00000265074	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32774868	C	G	32774868	3	3	160	1	0	0	0	0	1	0	0	0	10620	912	32	1	1128	1	NPR3	5	32774868	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	726194	32774868	148140392	681	28954										
TARS	6897	genome.wustl.edu	37	chr5	33448722	33448722	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcagaacatgattccattCtggcagaaaaggcagaaaaa	9	7	1	4	rs376476835		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:33448722C>T	ENST00000265112.3	+	3	525	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	TARS_ENST00000455217.2_Silent_p.L72L|TARS_ENST00000414361.2_Silent_p.F4F|TARS_ENST00000502553.1_Silent_p.L72L|TARS_ENST00000541634.1_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	72					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGATTCCATTCTGGCAGAAAA	0.368																																																	0													120	110	113					5																	33448722		2203	4300	6503	SO:0001819	synonymous_variant	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.214C>T	5.37:g.33448722C>T			A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.L72	ENST00000265112.3	37	c.214	CCDS3899.1	5																																																																																			TARS	-	NULL		0.368	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	C	NM_152295		33448722	1	no_errors	ENST00000265112	ensembl	human	known	70_37	silent	SNP	0.993	T	T	33448722	C	T	33448722	2	4	160	1	0	0	0	0	0	0	0	1	15589	912	32	1		1	TARS	5	33448722	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	673854	33448722	147466538	682	28955										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33614445	33614445	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctttctggattgtgtactCatacttgatgccagggttag	10	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:33614445C>G	ENST00000504830.1	-	16	2760	c.2425G>C	c.(2425-2427)Gag>Cag	p.E809Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E724Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	809	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTGTGTACTCATACTTGATG	0.473										HNSCC(64;0.19)																																							0													189	141	157					5																	33614445		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2425G>C	5.37:g.33614445C>G	ENSP00000422554:p.Glu809Gln		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E809Q	ENST00000504830.1	37	c.2425	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875585	0.91664	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.55234	0.53;0.53	5.73	5.73	0.89815	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.87578	0.998;0.896	T	0.61431	-0.7064	10	0.14252	T	0.57	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	724;809	P58397-3;P58397	.;ATS12_HUMAN	Q	809;724	ENSP00000422554:E809Q;ENSP00000344847:E724Q	ENSP00000344847:E724Q	E	-	1	0	ADAMTS12	33650202	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.825000	0.62708	2.699000	0.92147	0.561000	0.74099	GAG	ADAMTS12	-	pfam_ADAM_spacer1		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33614445	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33614445	C	G	33614445	3	3	160	1	0	0	0	0	1	0	0	0	257	835	29	1	2395	1	ADAMTS12	5	33614445	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	165723	33614445	147300815	683	28956										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33881290	33881290	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctgtagaaccgtgccactGagatggcagaggggggcaga	17	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:33881290G>A	ENST00000504830.1	-	2	758	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ADAMTS12_ENST00000352040.3_Silent_p.L141L|ADAMTS12_ENST00000515401.1_Silent_p.L141L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	141					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGTGCCACTGAGATGGCAGA	0.547										HNSCC(64;0.19)																																							0													61	61	61					5																	33881290		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.423C>T	5.37:g.33881290G>A			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L141	ENST00000504830.1	37	c.423	CCDS34140.1	5																																																																																			ADAMTS12	-	pfam_Peptidase_M12B_N		0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33881290	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	silent	SNP	0.920	A	A	33881290	G	A	33881290	2	1	160	1	0	0	0	0	0	0	0	1	257	1277	45	1		1	ADAMTS12	5	33881290	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	266845	33881290	147033970	684	28957										
DNAJC21	134218	genome.wustl.edu	37	chr5	34937497	34937497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaattttgcatggaaggaaGaatatgatacacgacaggct	11	5	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:34937497G>A	ENST00000342382.4	+	5	732	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	DNAJC21_ENST00000382021.2_Missense_Mutation_p.E169K|DNAJC21_ENST00000303525.7_Missense_Mutation_p.E169K			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	169					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ATGGAAGGAAGAATATGATAC	0.408																																																	0													66	67	67					5																	34937497		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.505G>A	5.37:g.34937497G>A	ENSP00000343728:p.Glu169Lys		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E169K	ENST00000342382.4	37	c.505	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289827	0.40494	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.48836	0.81;0.8;0.8	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.28054	0.825	0.80722	D	1	B;B;D	0.53745	0.024;0.112;0.962	B;B;P	0.47044	0.026;0.023;0.535	T	0.15607	-1.0431	10	0.22706	T	0.39	-31.3838	19.51	0.95137	0.0:0.0:1.0:0.0	.	169;169;169	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	K	169	ENSP00000343728:E169K;ENSP00000371451:E169K;ENSP00000306289:E169K	ENSP00000306289:E169K	E	+	1	0	DNAJC21	34973254	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.566000	0.82347	2.672000	0.90937	0.650000	0.86243	GAA	DNAJC21	-	NULL		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	G	NM_194283		34937497	1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34937497	G	A	34937497	3	1	160	1	0	0	0	0	1	0	0	0	4650	943	33	1	523	1	DNAJC21	5	34937497	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1056207	34937497	145977763	685	28958										
UGT3A2	167127	genome.wustl.edu	37	chr5	36066870	36066870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagaaggaagcccactagaaGaagcactcgctgcccagcca	11	13	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:36066870G>A	ENST00000282507.3	-	1	123	c.22C>T	c.(22-24)Ctt>Ttt	p.L8F	UGT3A2_ENST00000513300.1_Missense_Mutation_p.L8F|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	8					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCACTAGAAGAAGCACTCGC	0.602																																																	0													107	113	111					5																	36066870		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.22C>T	5.37:g.36066870G>A	ENSP00000282507:p.Leu8Phe		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L8F	ENST00000282507.3	37	c.22	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818334	0.71028	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.73789	-0.18;-0.78;1.06	3.3	2.42	0.29668	.	2.249610	0.03436	U	0.208463	D	0.86029	0.5835	M	0.80183	2.485	0.51767	D	0.999933	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.73471	-0.3972	10	0.48119	T	0.1	.	6.5562	0.22462	0.1322:0.0:0.8678:0.0	.	8;8	E9PFK7;Q3SY77	.;UD3A2_HUMAN	F	8	ENSP00000282507:L8F;ENSP00000427404:L8F;ENSP00000420865:L8F	ENSP00000282507:L8F	L	-	1	0	UGT3A2	36102627	0.239000	0.23836	0.469000	0.27204	0.598000	0.36846	0.694000	0.25512	0.957000	0.37930	0.655000	0.94253	CTT	UGT3A2	-	NULL		0.602	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	G	NM_174914		36066870	-1	no_errors	ENST00000282507	ensembl	human	known	70_37	missense	SNP	0.560	A	A	36066870	G	A	36066870	3	1	160	1	0	0	0	0	1	0	0	0	16995	942	33	1	1577	1	UGT3A2	5	36066870	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1129373	36066870	144848390	686	28959										
NIPBL	25836	genome.wustl.edu	37	chr5	37038789	37038789	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcaaaataagaccccagctCatggttaaacatgcaatgac	7	10	1	2	rs140907869	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37038789C>G	ENST00000282516.8	+	34	6556	c.6057C>G	c.(6055-6057)ctC>ctG	p.L2019L	NIPBL_ENST00000448238.2_Silent_p.L2019L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2019					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L2019L(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GACCCCAGCTCATGGTTAAAC	0.353																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											111	100	104					5																	37038789		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6057C>G	5.37:g.37038789C>G			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.L2019	ENST00000282516.8	37	c.6057	CCDS3920.1	5																																																																																			NIPBL	-	superfamily_ARM-type_fold		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		37038789	1	no_errors	ENST00000282516	ensembl	human	known	70_37	silent	SNP	0.996	G	G	37038789	C	G	37038789	2	3	160	1	0	0	0	0	0	0	0	1	10452	813	29	1		1	NIPBL	5	37038789	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	971919	37038789	143876471	687	28960										
NIPBL	25836	genome.wustl.edu	37	chr5	37063934	37063934	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaccctgatgaagaagaaGaagaaggggaggtttcagct	15	5	1	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37063934G>C	ENST00000282516.8	+	46	8402	c.7903G>C	c.(7903-7905)Gaa>Caa	p.E2635Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2635Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2635					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAAGAAGAAGAAGAAGGGGA	0.388																																																	0			GRCh37	CM041507	NIPBL	M							55	52	53					5																	37063934		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7903G>C	5.37:g.37063934G>C	ENSP00000282516:p.Glu2635Gln		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2635Q	ENST00000282516.8	37	c.7903	CCDS3920.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.121622|5.121622	0.94385|0.94385	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000282516;ENST00000448238|ENST00000513819;ENST00000507919	D;D|T	0.93953|0.80738	-3.32;-3.31|-1.41	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87865|0.87865	0.6285|0.6285	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.80764|.	0.986;0.986;0.994|.	D|D	0.86812|0.86812	0.1999|0.1999	10|6	0.49607|.	T|.	0.09|.	-16.7328|-16.7328	19.3937|19.3937	0.94596|0.94596	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2635;2635;2635|.	Q6IEH8;Q6KC79;Q6KC79-2|.	.;NIPBL_HUMAN;.|.	Q|N	2635|102;140	ENSP00000282516:E2635Q;ENSP00000406266:E2635Q|ENSP00000421504:K102N	ENSP00000282516:E2635Q|.	E|K	+|+	1|3	0|2	NIPBL|NIPBL	37099691|37099691	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.986000|0.986000	0.74619|0.74619	9.476000|9.476000	0.97823|0.97823	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	GAA|AAG	NIPBL	-	NULL		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	G	NM_015384		37063934	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37063934	G	C	37063934	3	2	160	1	0	0	0	0	1	0	0	0	10452	943	33	1	8081	1	NIPBL	5	37063934	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	25145	37063934	143851326	688	28961										
C5orf42	65250	genome.wustl.edu	37	chr5	37183701	37183701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtattttgtgataacttttCatgatcttctttctttgtag	6	5	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37183701C>T	ENST00000508244.1	-	25	4675	c.4582G>A	c.(4582-4584)Gaa>Aaa	p.E1528K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1528K|C5orf42_ENST00000274258.7_Missense_Mutation_p.E409K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1528						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATAACTTTTCATGATCTTCT	0.303																																																	0													50	49	49					5																	37183701		2202	4297	6499	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4582G>A	5.37:g.37183701C>T	ENSP00000421690:p.Glu1528Lys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.E1528K	ENST00000508244.1	37	c.4582	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150700	0.57151	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.6	3.82	0.43975	.	0.469751	0.17962	N	0.156129	T	0.49355	0.1552	N	0.19112	0.55	0.20307	N	0.999912	B;B	0.23377	0.047;0.084	B;B	0.21917	0.025;0.037	T	0.40459	-0.9562	10	0.45353	T	0.12	.	8.6909	0.34267	0.0:0.7138:0.0:0.2862	.	1528;409	E9PH94;Q9H799	.;CE042_HUMAN	K	1528;1528;409;576;409	ENSP00000421690:E1528K;ENSP00000389014:E1528K;ENSP00000274258:E409K;ENSP00000424223:E576K	ENSP00000274258:E409K	E	-	1	0	C5orf42	37219458	0.014000	0.17966	0.020000	0.16555	0.978000	0.69477	0.803000	0.27083	0.718000	0.32166	0.655000	0.94253	GAA	C5orf42	-	NULL		0.303	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37183701	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.391	T	T	37183701	C	T	37183701	3	4	160	1	0	0	0	0	1	0	0	0	2306	835	29	1	5119	1	C5orf42	5	37183701	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	119767	37183701	143731559	689	28962										
WDR70	55100	genome.wustl.edu	37	chr5	37701239	37701239	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgggtcttcccaccatgttCccaatgtaagtagcatattt	7	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:37701239C>G	ENST00000265107.4	+	12	1428	c.1272C>G	c.(1270-1272)ttC>ttG	p.F424L	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	424							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCATGTTCCCAATGTAAG	0.338																																																	0													77	80	79					5																	37701239		2203	4300	6503	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1272C>G	5.37:g.37701239C>G	ENSP00000265107:p.Phe424Leu		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F424L	ENST00000265107.4	37	c.1272	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041622	0.55003	.	.	ENSG00000082068	ENST00000265107	T	0.01272	5.07	5.37	1.41	0.22369	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.062108	0.64402	D	0.000004	T	0.01421	0.0046	L	0.50333	1.59	0.80722	D	1	P	0.39282	0.666	B	0.30179	0.112	T	0.65882	-0.6060	10	0.41790	T	0.15	-6.6375	8.9619	0.35851	0.0:0.443:0.0:0.557	.	424	Q9NW82	WDR70_HUMAN	L	424	ENSP00000265107:F424L	ENSP00000265107:F424L	F	+	3	2	WDR70	37736996	0.650000	0.27331	1.000000	0.80357	0.998000	0.95712	-0.272000	0.08560	0.210000	0.20664	0.650000	0.86243	TTC	WDR70	-	superfamily_WD40_repeat_dom		0.338	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	C	NM_018034		37701239	1	no_errors	ENST00000265107	ensembl	human	known	70_37	missense	SNP	0.996	G	G	37701239	C	G	37701239	3	3	160	1	0	0	0	0	1	0	0	0	17352	854	30	1	1318	1	WDR70	5	37701239	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	517538	37701239	143214021	690	28963										
C7	730	genome.wustl.edu	37	chr5	40947764	40947764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcagttcattaataacaatCcagaatttttacaacttgct	3	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:40947764C>G	ENST00000313164.9	+	8	1158	c.799C>G	c.(799-801)Cca>Gca	p.P267A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	267	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TAATAACAATCCAGAATTTTT	0.438																																																	0													71	68	69					5																	40947764		1852	4094	5946	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.799C>G	5.37:g.40947764C>G	ENSP00000322061:p.Pro267Ala		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.P267A	ENST00000313164.9	37	c.799	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746827	0.69418	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.84660	-1.88	5.9	5.9	0.94986	Membrane attack complex component/perforin (MACPF) domain (3);	0.053789	0.85682	D	0.000000	D	0.92867	0.7731	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92954	0.6383	10	0.66056	D	0.02	-19.4805	18.4666	0.90758	0.0:1.0:0.0:0.0	.	267	P10643	CO7_HUMAN	A	267	ENSP00000322061:P267A	ENSP00000322061:P267A	P	+	1	0	C7	40983521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	2.786000	0.95864	0.650000	0.86243	CCA	C7	-	pfam_MACPF,smart_MACPF		0.438	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	C			40947764	1	no_errors	ENST00000313164	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40947764	C	G	40947764	3	3	160	1	0	0	0	0	1	0	0	0	2380	855	30	1	829	1	C7	5	40947764	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3246525	40947764	139967496	691	28964										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41038910	41038910	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtctggagagaagttgcttCttgggagcatggagggccac	16	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:41038910C>G	ENST00000399564.4	-	21	2592	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	MROH2B_ENST00000506092.2_Missense_Mutation_p.K269N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	714																	GAAGTTGCTTCTTGGGAGCAT	0.498																																																	0													73	72	72					5																	41038910		1914	4129	6043	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2142G>C	5.37:g.41038910C>G	ENSP00000382476:p.Lys714Asn		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K714N	ENST00000399564.4	37	c.2142	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454045	0.43634	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66638	4.83;-0.22	5.93	-0.806	0.10875	Armadillo-type fold (1);	0.111582	0.39909	N	0.001227	T	0.66187	0.2764	L	0.51422	1.61	0.09310	N	0.999997	D	0.56746	0.977	P	0.55923	0.787	T	0.60388	-0.7273	10	0.33940	T	0.23	.	9.5547	0.39332	0.0:0.4903:0.0:0.5097	.	714	Q7Z745	HTRB2_HUMAN	N	269;419;714	ENSP00000441504:K269N;ENSP00000382476:K714N	ENSP00000296803:K419N	K	-	3	2	HEATR7B2	41074667	0.063000	0.20901	0.026000	0.17262	0.542000	0.35054	0.128000	0.15810	-0.108000	0.12066	0.655000	0.94253	AAG	HEATR7B2	-	superfamily_ARM-type_fold		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	C	NM_173489		41038910	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.017	G	G	41038910	C	G	41038910	3	3	160	1	0	0	0	0	1	0	0	0	7055	912	32	1	2703	1	HEATR7B2	5	41038910	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	91146	41038910	139876350	692	28965										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41058167	41058167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttagggtatggctcttacctGagtgacatggaaatcaatct	10	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:41058167G>C	ENST00000399564.4	-	7	1204	c.754C>G	c.(754-756)Cag>Gag	p.Q252E	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	252																	GCTCTTACCTGAGTGACATGG	0.507																																																	0													103	98	99					5																	41058167		1889	4109	5998	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.754C>G	5.37:g.41058167G>C	ENSP00000382476:p.Gln252Glu		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q252E	ENST00000399564.4	37	c.754	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160195	0.78226	.	.	ENSG00000171495	ENST00000399564	T	0.08458	3.09	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.50627	D	0.000101	T	0.26991	0.0661	M	0.69823	2.125	0.40456	D	0.980196	D	0.56035	0.974	D	0.70487	0.969	T	0.00221	-1.1905	10	0.49607	T	0.09	.	14.2725	0.66159	0.0:0.0:1.0:0.0	.	252	Q7Z745	HTRB2_HUMAN	E	252	ENSP00000382476:Q252E	ENSP00000382476:Q252E	Q	-	1	0	HEATR7B2	41093924	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.090000	0.41682	2.732000	0.93576	0.650000	0.86243	CAG	HEATR7B2	-	superfamily_ARM-type_fold		0.507	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41058167	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41058167	G	C	41058167	3	2	160	1	0	0	0	0	1	0	0	0	7055	1299	45	1	4147	1	HEATR7B2	5	41058167	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	19257	41058167	139857093	693	28966										
ITGA2	3673	genome.wustl.edu	37	chr5	52351441	52351441	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtagttgtaactgacggtGaatcacatgatggttcaatg	12	5	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:52351441G>A	ENST00000296585.5	+	8	996	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	285	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACTGACGGTGAATCACATGA	0.388																																																	0													198	189	192					5																	52351441		2203	4300	6503	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.853G>A	5.37:g.52351441G>A	ENSP00000296585:p.Glu285Lys		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E285K	ENST00000296585.5	37	c.853	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.764097	0.96906	.	.	ENSG00000164171	ENST00000296585	D	0.82619	-1.63	5.54	5.54	0.83059	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.97110	1.0;0.781	D	0.88428	0.3033	10	0.62326	D	0.03	.	19.4748	0.94983	0.0:0.0:1.0:0.0	.	285;285	E7ESP4;P17301	.;ITA2_HUMAN	K	285	ENSP00000296585:E285K	ENSP00000296585:E285K	E	+	1	0	ITGA2	52387198	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	9.230000	0.95299	2.593000	0.87608	0.650000	0.86243	GAA	ITGA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.388	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	G	NM_002203		52351441	1	no_errors	ENST00000296585	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52351441	G	A	52351441	3	1	160	1	0	0	0	0	1	0	0	0	7895	1291	45	1	883	1	ITGA2	5	52351441	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11293274	52351441	128563819	694	28967										
DHX29	54505	genome.wustl.edu	37	chr5	54567958	54567958	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaattacaaatacaacatCaggaatagtgatacccgtct	5	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:54567958C>T	ENST00000251636.5	-	18	2969	c.2821G>A	c.(2821-2823)Gat>Aat	p.D941N	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	941	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATACAACATCAGGAATAGTG	0.303																																																	0													49	52	51					5																	54567958		2201	4294	6495	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2821G>A	5.37:g.54567958C>T	ENSP00000251636:p.Asp941Asn		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D941N	ENST00000251636.5	37	c.2821	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.118841	0.94385	.	.	ENSG00000067248	ENST00000251636	T	0.02606	4.23	5.13	5.13	0.70059	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.11239	0.0274	L	0.48935	1.535	0.58432	D	0.999998	D	0.65815	0.995	D	0.65010	0.931	T	0.00945	-1.1505	10	0.87932	D	0	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	941	Q7Z478	DHX29_HUMAN	N	941	ENSP00000251636:D941N	ENSP00000251636:D941N	D	-	1	0	DHX29	54603715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.386000	0.79775	2.551000	0.86045	0.655000	0.94253	GAT	DHX29	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.303	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54567958	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54567958	C	T	54567958	3	4	160	1	0	0	0	0	1	0	0	0	4513	826	29	1	1328	1	DHX29	5	54567958	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2216517	54567958	126347302	695	28968										
SKIV2L2	23517	genome.wustl.edu	37	chr5	54706374	54706374	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgatgagctccttctaactGagatgatgtttaatggcctt	9	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:54706374G>C	ENST00000230640.5	+	23	2922	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.E789Q	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	890					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCTTCTAACTGAGATGATGTT	0.363																																					Melanoma(2;92 134 23744 29976 33782)												0													192	172	179					5																	54706374		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2668G>C	5.37:g.54706374G>C	ENSP00000230640:p.Glu890Gln		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E890Q	ENST00000230640.5	37	c.2668	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758019	0.89843	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.32272	1.46;1.46	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.75020	0.985;0.939	T	0.74665	-0.3589	10	0.87932	D	0	-16.297	18.8764	0.92338	0.0:0.0:1.0:0.0	.	789;890	F5H7E2;P42285	.;SK2L2_HUMAN	Q	890;789	ENSP00000230640:E890Q;ENSP00000442583:E789Q	ENSP00000230640:E890Q	E	+	1	0	SKIV2L2	54742131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.275000	0.95738	2.532000	0.85374	0.591000	0.81541	GAG	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	G			54706374	1	no_errors	ENST00000230640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54706374	G	C	54706374	3	2	160	1	0	0	0	0	1	0	0	0	14390	1291	45	1	2758	1	SKIV2L2	5	54706374	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	138416	54706374	126208886	696	28969										
SKIV2L2	23517	genome.wustl.edu	37	chr5	54706386	54706386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctaactgagatgatgtttAatggccttttcaatgacctt	7	7	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:54706386A>C	ENST00000230640.5	+	23	2934	c.2680A>C	c.(2680-2682)Aat>Cat	p.N894H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.N793H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	894					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATGATGTTTAATGGCCTTTT	0.363																																					Melanoma(2;92 134 23744 29976 33782)												0													204	183	191					5																	54706386		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2680A>C	5.37:g.54706386A>C	ENSP00000230640:p.Asn894His		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N894H	ENST00000230640.5	37	c.2680	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510899	0.64522	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.23754	1.89;1.89	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72075	0.948;0.976	T	0.66693	-0.5859	10	0.72032	D	0.01	-11.9682	15.1757	0.72910	1.0:0.0:0.0:0.0	.	793;894	F5H7E2;P42285	.;SK2L2_HUMAN	H	894;793	ENSP00000230640:N894H;ENSP00000442583:N793H	ENSP00000230640:N894H	N	+	1	0	SKIV2L2	54742143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.773000	0.91762	2.047000	0.60756	0.482000	0.46254	AAT	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	A			54706386	1	no_errors	ENST00000230640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54706386	A	C	54706386	3	2	160	1	0	0	0	0	1	0	0	0	14390	362	13	5	2770	5	SKIV2L2	5	54706386	Missense_Mutation	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	12	54706386	126208874	697	28970										
GPBP1	65056	genome.wustl.edu	37	chr5	56542956	56542956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagttggaacttctttccctCatgagtccacatttggcgtt	8	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:56542956C>T	ENST00000506184.2	+	8	1823	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	GPBP1_ENST00000538707.1_Missense_Mutation_p.H247Y|GPBP1_ENST00000454432.2_Missense_Mutation_p.H260Y|GPBP1_ENST00000514387.2_Missense_Mutation_p.H69Y|GPBP1_ENST00000511209.1_Missense_Mutation_p.H247Y|GPBP1_ENST00000264779.6_Missense_Mutation_p.H247Y|GPBP1_ENST00000424459.3_Missense_Mutation_p.H260Y			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	240					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCTTTCCCTCATGAGTCCAC	0.343																																																	0													83	80	81					5																	56542956		2202	4300	6502	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.718C>T	5.37:g.56542956C>T	ENSP00000421202:p.His240Tyr		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.H260Y	ENST00000506184.2	37	c.778	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873343	0.51695	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.44482	1.92;0.92;1.93;1.92;1.92;1.93;1.93	5.43	3.54	0.40534	.	0.170150	0.53938	D	0.000045	T	0.34135	0.0887	L	0.36672	1.1	0.34523	D	0.708355	P;P;P;P	0.49090	0.919;0.838;0.669;0.736	B;B;B;B	0.43809	0.432;0.093;0.065;0.093	T	0.42716	-0.9435	10	0.16420	T	0.52	-4.0892	14.3083	0.66397	0.0:0.7191:0.2809:0.0	.	260;247;247;240	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	Y	260;69;240;260;247;247;247	ENSP00000401596:H260Y;ENSP00000421709:H69Y;ENSP00000421202:H240Y;ENSP00000403522:H260Y;ENSP00000422337:H247Y;ENSP00000264779:H247Y;ENSP00000440090:H247Y	ENSP00000264779:H247Y	H	+	1	0	GPBP1	56578713	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.255000	0.51484	1.266000	0.44231	0.561000	0.74099	CAT	GPBP1	-	NULL		0.343	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	C	NM_022913		56542956	1	no_errors	ENST00000424459	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56542956	C	T	56542956	3	4	160	1	0	0	0	0	1	0	0	0	6614	826	29	1	765	1	GPBP1	5	56542956	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1836570	56542956	124372304	698	28971										
RAB3C	115827	genome.wustl.edu	37	chr5	57879050	57879050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaacaatgagacacgaagcGcccatgcaggtgggtccata	11	12	0	1	rs113855367		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:57879050G>A	ENST00000282878.4	+	1	184	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	5					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GACACGAAGCGCCCATGCAGG	0.562																																																	0													120	112	115					5																	57879050		2203	4300	6503	SO:0001819	synonymous_variant	115827			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.15G>A	5.37:g.57879050G>A				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A5	ENST00000282878.4	37	c.15	CCDS3976.1	5																																																																																			RAB3C	-	NULL		0.562	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	G	NM_138453		57879050	1	no_errors	ENST00000282878	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57879050	G	A	57879050	2	1	160	1	0	0	0	0	0	0	0	1	12963	1074	38	2		2	RAB3C	5	57879050	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1336094	57879050	123036210	699	28972										
ERCC8	1161	genome.wustl.edu	37	chr5	60186718	60186718	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcctgtatcactcttacctGgaaatttgactgaaatacac	5	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:60186718G>A	ENST00000265038.5	-	10	1081	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	ERCC8_ENST00000543101.1_Nonsense_Mutation_p.Q194*|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Nonsense_Mutation_p.Q289*	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	347					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ACTCTTACCTGGAAATTTGAC	0.338																																																	0													81	84	83					5																	60186718		2203	4300	6503	SO:0001587	stop_gained	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1039C>T	5.37:g.60186718G>A	ENSP00000265038:p.Gln347*		B2RB64|Q6FHX5|Q96GB9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q347*	ENST00000265038.5	37	c.1039	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.946765	0.99012	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.434	19.7734	0.96382	0.0:0.0:1.0:0.0	.	.	.	.	X	289;347;194;346	.	ENSP00000265038:Q347X	Q	-	1	0	ERCC8	60222475	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.094000	0.94168	2.684000	0.91462	0.563000	0.77884	CAG	ERCC8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.338	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	G	NM_000082		60186718	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	60186718	G	A	60186718	4	1	160	1	0	0	0	0	0	1	0	0	5231	1357	47	4	163	4	ERCC8	5	60186718	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2307668	60186718	120728542	700	28973										
ERCC8	1161	genome.wustl.edu	37	chr5	60240761	60240761	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagtaaggttttctttacctCcgtgttgactctgctctccg	8	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:60240761C>T	ENST00000265038.5	-	1	117	c.75G>A	c.(73-75)cgG>cgA	p.R25R	ERCC8_ENST00000543101.1_5'UTR|NDUFAF2_ENST00000511107.1_5'Flank|NDUFAF2_ENST00000296597.5_5'Flank|ERCC8_ENST00000426742.2_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	25					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCTTTACCTCCGTGTTGACT	0.532																																																	0													110	101	104					5																	60240761		2203	4300	6503	SO:0001819	synonymous_variant	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.75G>A	5.37:g.60240761C>T			B2RB64|Q6FHX5|Q96GB9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R25	ENST00000265038.5	37	c.75	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639792	0.47153	.	.	ENSG00000049167	ENST00000536596	.	.	.	5.36	1.28	0.21552	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12041	-1.0563	5	0.23891	T	0.37	-0.1848	5.0285	0.14398	0.0:0.4836:0.3208:0.1956	.	.	.	.	K	39	.	ENSP00000442219:E39K	E	-	1	0	ERCC8	60276518	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	0.664000	0.25068	0.039000	0.15632	-0.176000	0.13171	GAG	ERCC8	-	NULL		0.532	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	C	NM_000082		60240761	-1	no_errors	ENST00000265038	ensembl	human	known	70_37	silent	SNP	0.999	T	T	60240761	C	T	60240761	2	4	160	1	0	0	0	0	0	0	0	1	5231	842	30	1		1	ERCC8	5	60240761	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	54043	60240761	120674499	701	28974										
ADAMTS6	11174	genome.wustl.edu	37	chr5	64511297	64511297	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accattaatatagtaatcatCtccttcagattttaaagcta	3	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64511297C>G								ADAMTS6 (16705 upstream) : ADAMTS6 (81737 downstream)																							TAGTAATCATCTCCTTCAGAT	0.338																																																	0													72	71	72					5																	64511297		2203	4300	6503	SO:0001628	intergenic_variant	11174																															5.37:g.64511297C>G				Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D764H		37	c.2290		5	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001609	0.54254	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.54279	0.58;0.58	5.79	4.92	0.64577	ADAM-TS Spacer 1 (1);	0.099159	0.64402	D	0.000002	T	0.69242	0.3089	M	0.68952	2.095	0.80722	D	1	D;P	0.53619	0.961;0.93	D;P	0.64687	0.928;0.897	T	0.72978	-0.4127	10	0.72032	D	0.01	.	15.0054	0.71507	0.0:0.9318:0.0:0.0682	.	764;764	D6R9L6;Q9UKP5	.;ATS6_HUMAN	H	764;714;764	ENSP00000370443:D764H;ENSP00000423551:D764H	ENSP00000261306:D714H	D	-	1	0	ADAMTS6	64547053	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.354000	0.79424	1.459000	0.47892	0.655000	0.94253	GAT	ADAMTS6	-	pfam_ADAM_spacer1	0	0.338					ADAMTS6	HGNC			C			64511297	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64511297	C	G	64511297	1	3	160	0	1	0	0	0	0	0	0	0	270	913	32	1		1	ADAMTS6	5	64511297	IGR	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4270536	64511297	116403963	702	28975										
ADAMTS6	11174	genome.wustl.edu	37	chr5	64625257	64625257	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaacccaggccaatgtcttCattaatgctgcagctccttt	7	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64625257C>T	ENST00000536360.1	-	9	1984	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCAATGTCTTCATTAATGCTG	0.428																																																	0													93	82	86					5																	64625257		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1171G>A	5.37:g.64625257C>T	ENSP00000440995:p.Glu391Lys		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E391K	ENST00000536360.1	37	c.1171		5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685726	0.88639	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.87571	-2.27;-2.27;-2.27	5.89	5.89	0.94794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	L	0.51422	1.61	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.70227	0.968;0.968	D	0.91965	0.5582	10	0.72032	D	0.01	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	391;391	D6R9L6;Q9UKP5	.;ATS6_HUMAN	K	391	ENSP00000370443:E391K;ENSP00000423551:E391K;ENSP00000440995:E391K	ENSP00000261306:E391K	E	-	1	0	ADAMTS6	64661013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.791000	0.96007	0.591000	0.81541	GAA	ADAMTS6	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.428	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		C	NM_197941		64625257	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64625257	C	T	64625257	3	4	160	1	0	0	0	0	1	0	0	0	270	835	29	1	2250	1	ADAMTS6	5	64625257	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	113960	64625257	116290003	703	28976										
SGTB	54557	genome.wustl.edu	37	chr5	64966100	64966100	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctcttcagcgctgctgctGaatgatctgctccggatgtg	12	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64966100G>A	ENST00000381007.4	-	11	1123	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	296										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CGCTGCTGCTGAATGATCTGC	0.438																																																	0													175	166	169					5																	64966100		2203	4300	6503	SO:0001819	synonymous_variant	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.888C>T	5.37:g.64966100G>A				Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F296	ENST00000381007.4	37	c.888	CCDS3988.1	5																																																																																			SGTB	-	NULL		0.438	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	G	NM_019072		64966100	-1	no_errors	ENST00000381007	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64966100	G	A	64966100	2	1	160	1	0	0	0	0	0	0	0	1	14256	1281	45	1		1	SGTB	5	64966100	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	340843	64966100	115949160	704	28977										
SGTB	54557	genome.wustl.edu	37	chr5	64976529	64976529	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttctgctattttcagatttGacttataggaatcattttca	6	6	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:64976529G>A	ENST00000381007.4	-	7	807	c.572C>T	c.(571-573)tCa>tTa	p.S191L		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	191										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTCAGATTTGACTTATAGGA	0.368																																																	0													190	193	192					5																	64976529		2203	4300	6503	SO:0001583	missense	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.572C>T	5.37:g.64976529G>A	ENSP00000370395:p.Ser191Leu			Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S191L	ENST00000381007.4	37	c.572	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626638	0.66901	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.62105	0.09;0.05	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);	0.137304	0.51477	D	0.000094	T	0.60830	0.2299	M	0.80183	2.485	0.58432	D	0.999999	B	0.31730	0.337	B	0.25506	0.061	T	0.60915	-0.7168	10	0.31617	T	0.26	-9.2758	12.3458	0.55119	0.0773:0.0:0.9227:0.0	.	191	Q96EQ0	SGTB_HUMAN	L	191	ENSP00000370395:S191L;ENSP00000421447:S191L	ENSP00000370395:S191L	S	-	2	0	SGTB	65012285	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.659000	0.83766	2.496000	0.84212	0.557000	0.71058	TCA	SGTB	-	NULL		0.368	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	G	NM_019072		64976529	-1	no_errors	ENST00000381007	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64976529	G	A	64976529	3	1	160	1	0	0	0	0	1	0	0	0	14256	1294	45	1	362	1	SGTB	5	64976529	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10429	64976529	115938731	705	28978										
NLN	57486	genome.wustl.edu	37	chr5	65084037	65084037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgcaaagacaggggttttGaatatgatgggaaaatcaat	11	3	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:65084037G>C	ENST00000380985.5	+	8	1229	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	NLN_ENST00000502464.1_Missense_Mutation_p.E247Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	351						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CAGGGGTTTTGAATATGATGG	0.378																																																	0													112	120	117					5																	65084037		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1051G>C	5.37:g.65084037G>C	ENSP00000370372:p.Glu351Gln		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E351Q	ENST00000380985.5	37	c.1051	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888421	0.33348	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	T;T;T	0.09445	2.98;2.98;2.98	6.07	6.07	0.98685	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.554982	0.20607	N	0.089041	T	0.12603	0.0306	L	0.38175	1.15	0.31992	N	0.604431	B;B;P	0.43826	0.002;0.014;0.818	B;B;B	0.39119	0.006;0.015;0.291	T	0.01688	-1.1295	10	0.38643	T	0.18	-14.0195	20.6593	0.99626	0.0:0.0:1.0:0.0	.	46;351;351	Q96K48;Q9BYT8;Q9BQD0	.;NEUL_HUMAN;.	Q	351;247;351;79	ENSP00000370372:E351Q;ENSP00000423214:E247Q;ENSP00000427417:E79Q	ENSP00000339283:E351Q	E	+	1	0	NLN	65119793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.588000	0.46137	2.885000	0.99019	0.655000	0.94253	GAA	NLN	-	pfam_Pept_M3A_M3B		0.378	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65084037	1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	0.997	C	C	65084037	G	C	65084037	3	2	160	1	0	0	0	0	1	0	0	0	10491	1291	45	1	1081	1	NLN	5	65084037	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	107508	65084037	115831223	706	28979										
MAST4	375449	genome.wustl.edu	37	chr5	66461117	66461117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccatggagaaagcatgggCgccgggtgggaaaacgaacc	17	9	0	1	rs199523154	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:66461117C>T	ENST00000403625.2	+	29	6405	c.6110C>T	c.(6109-6111)gCg>gTg	p.A2037V	MAST4_ENST00000404260.3_Missense_Mutation_p.A2040V|MAST4_ENST00000261569.7_Missense_Mutation_p.A1843V|MAST4_ENST00000403666.1_Missense_Mutation_p.A1848V|MAST4_ENST00000405643.1_Missense_Mutation_p.A1858V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2040						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAGCATGGGCGCCGGGTGGG	0.557													C|||	10	0.00199681	0	0	5008	,	,		16642	0.0099		0	False		,,,				2504	0																0								C	VAL/ALA,VAL/ALA	0,3770		0,0,1885	23	29	27		6110,5543	1.5	0	5		27	3,8223		0,3,4110	yes	missense,missense	MAST4	NM_001164664.1,NM_015183.2	64,64	0,3,5995	TT,TC,CC		0.0365,0.0,0.025	benign,benign	2037/2624,1848/2435	66461117	3,11993	1885	4113	5998	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6110C>T	5.37:g.66461117C>T	ENSP00000385727:p.Ala2037Val		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A2040V	ENST00000403625.2	37	c.6119	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891175	0.17613	0.0	3.65E-4	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.64991	-0.11;-0.11;-0.13;-0.12;-0.1	4.35	1.51	0.23008	.	1.154300	0.06471	N	0.731230	T	0.44519	0.1297	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27123	-1.0083	10	0.35671	T	0.21	-0.8327	4.8683	0.13620	0.0896:0.4698:0.307:0.1337	.	2040;1848	O15021;O15021-3	MAST4_HUMAN;.	V	2040;2037;1848;1858;1858;1843	ENSP00000385048:A2040V;ENSP00000385727:A2037V;ENSP00000384313:A1848V;ENSP00000384099:A1858V;ENSP00000261569:A1843V	ENSP00000261569:A1843V	A	+	2	0	MAST4	66496873	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.205000	0.09411	0.102000	0.17638	-0.344000	0.07964	GCG	MAST4	-	NULL		0.557	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66461117	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.001	T	T	66461117	C	T	66461117	3	4	160	1	0	0	0	0	1	0	0	0	9350	768	27	2	6354	2	MAST4	5	66461117	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1377080	66461117	114454143	707	28980										
PIK3R1	5295	genome.wustl.edu	37	chr5	67522828	67522828	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgaaaactgaagcagatgttGaacaacaaggtcagtattga	10	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:67522828G>A	ENST00000521381.1	+	2	941	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PIK3R1_ENST00000396611.1_Missense_Mutation_p.E109K|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E109K|PIK3R1_ENST00000274335.5_Missense_Mutation_p.E109K	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	109					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGCAGATGTTGAACAACAAGG	0.433			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	1	Whole gene deletion(1)	large_intestine(1)											50	59	56					5																	67522828		2202	4299	6501	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.325G>A	5.37:g.67522828G>A	ENSP00000428056:p.Glu109Lys		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.E109K	ENST00000521381.1	37	c.325	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584155	0.46110	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	T;T;T;T	0.68903	-0.36;-0.36;-0.24;-0.36	5.77	5.77	0.91146	.	0.116735	0.56097	D	0.000027	T	0.58032	0.2094	L	0.44542	1.39	0.80722	D	1	B	0.26935	0.164	B	0.24006	0.05	T	0.56571	-0.7957	10	0.05525	T	0.97	-24.2655	20.3473	0.98799	0.0:0.0:1.0:0.0	.	109	P27986	P85A_HUMAN	K	109	ENSP00000428056:E109K;ENSP00000429277:E109K;ENSP00000379855:E109K;ENSP00000274335:E109K	ENSP00000274335:E109K	E	+	1	0	PIK3R1	67558584	1.000000	0.71417	0.955000	0.39395	0.760000	0.43138	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	GAA	PIK3R1	-	NULL		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67522828	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67522828	G	A	67522828	3	1	160	1	0	0	0	0	1	0	0	0	11942	1291	45	1	327	1	PIK3R1	5	67522828	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1061711	67522828	113392432	708	28981										
PIK3R1	5295	genome.wustl.edu	37	chr5	67589548	67589548	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctttctaggatcaagttgtCaaagaagataatattgaagc	8	5	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:67589548C>G	ENST00000521381.1	+	11	1927	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	PIK3R1_ENST00000396611.1_Silent_p.V437V|PIK3R1_ENST00000523872.1_Silent_p.V74V|PIK3R1_ENST00000521657.1_Silent_p.V437V|PIK3R1_ENST00000274335.5_Silent_p.V437V|PIK3R1_ENST00000336483.5_Silent_p.V167V|PIK3R1_ENST00000320694.8_Silent_p.V137V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	437					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCAAGTTGTCAAAGAAGATA	0.249			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											38	42	41					5																	67589548		2179	4266	6445	SO:0001819	synonymous_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1311C>G	5.37:g.67589548C>G			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.V437	ENST00000521381.1	37	c.1311	CCDS3993.1	5																																																																																			PIK3R1	-	superfamily_Guanylate-bd_C,prints_PI3kinase_P85		0.249	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	C	NM_181504		67589548	1	no_errors	ENST00000396611	ensembl	human	known	70_37	silent	SNP	1.000	G	G	67589548	C	G	67589548	2	3	160	1	0	0	0	0	0	0	0	1	11942	813	29	1		1	PIK3R1	5	67589548	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	66720	67589548	113325712	709	28982										
CCDC125	202243	genome.wustl.edu	37	chr5	68578572	68578572	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctttaaaatatgatacttGatggcaaagaatgggatctt	9	4	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:68578572G>C	ENST00000396496.2	-	12	1627	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	CCDC125_ENST00000511257.1_Nonsense_Mutation_p.S382*|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Nonsense_Mutation_p.S507*|CCDC125_ENST00000383374.2_3'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	507						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGATACTTGATGGCAAAGA	0.333																																																	0													70	77	74					5																	68578572		2203	4299	6502	SO:0001587	stop_gained	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1520C>G	5.37:g.68578572G>C	ENSP00000379754:p.Ser507*		Q86Z19	Nonsense_Mutation	SNP	NULL	p.S507*	ENST00000396496.2	37	c.1520	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.098025	0.97281	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	.	.	.	5.07	4.19	0.49359	.	0.498482	0.16903	N	0.194825	.	.	.	.	.	.	0.32757	N	0.505621	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.0278	12.8062	0.57616	0.0:0.1649:0.8351:0.0	.	.	.	.	X	507;507;382	.	ENSP00000379754:S507X	S	-	2	0	CCDC125	68614328	1.000000	0.71417	0.937000	0.37676	0.719000	0.41307	4.027000	0.57239	1.324000	0.45282	0.650000	0.86243	TCA	CCDC125	-	NULL		0.333	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	G	NM_176816		68578572	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	nonsense	SNP	0.988	C	C	68578572	G	C	68578572	4	2	160	1	0	0	0	0	0	1	0	0	2766	1294	45	1	19	1	CCDC125	5	68578572	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	989024	68578572	112336688	710	28983										
MARVELD2	153562	genome.wustl.edu	37	chr5	68728887	68728887	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatgagctggatgcagtgatGagcagattgccacatcattc	12	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:68728887G>C	ENST00000325631.5	+	5	1544	c.1470G>C	c.(1468-1470)atG>atC	p.M490I	MARVELD2_ENST00000413223.2_Missense_Mutation_p.M374I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	490					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGCAGTGATGAGCAGATTGC	0.453																																																	0													128	120	122					5																	68728887		2203	4300	6503	SO:0001583	missense	153562			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1470G>C	5.37:g.68728887G>C	ENSP00000323264:p.Met490Ile		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom	p.M490I	ENST00000325631.5	37	c.1470	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961075	0.53400	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.74	4.86	0.63082	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.072783	0.85682	D	0.000000	T	0.30262	0.0759	L	0.56280	1.765	0.46927	D	0.999256	B;B	0.27625	0.155;0.183	B;B	0.38500	0.275;0.181	T	0.11470	-1.0586	10	0.72032	D	0.01	-17.1495	15.5628	0.76262	0.0:0.1387:0.8613:0.0	.	478;490	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	I	490;478;490;374;374	ENSP00000323264:M490I;ENSP00000396244:M478I;ENSP00000423490:M490I;ENSP00000414776:M374I;ENSP00000398922:M374I	ENSP00000323264:M490I	M	+	3	0	MARVELD2	68764643	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	4.384000	0.59607	1.385000	0.46445	0.655000	0.94253	ATG	MARVELD2	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.453	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	G	NM_144724		68728887	1	no_errors	ENST00000325631	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68728887	G	C	68728887	3	2	160	1	0	0	0	0	1	0	0	0	9341	1290	45	1	1484	1	MARVELD2	5	68728887	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	150315	68728887	112186373	711	28984										
MAP1B	4131	genome.wustl.edu	37	chr5	71496106	71496106	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaccaccactcctgaggtCaaagctgcacgtggggaaga	11	14	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:71496106C>G	ENST00000296755.7	+	5	7222	c.6924C>G	c.(6922-6924)gtC>gtG	p.V2308V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2308	Mediates interaction with TMEM185A.				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCTGAGGTCAAAGCTGCAC	0.522																																					Melanoma(17;367 822 11631 31730 47712)												0													113	118	116					5																	71496106		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6924C>G	5.37:g.71496106C>G			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.V2308	ENST00000296755.7	37	c.6924	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71496106	1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	1.000	G	G	71496106	C	G	71496106	2	3	160	1	0	0	0	0	0	0	0	1	9251	813	29	1		1	MAP1B	5	71496106	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2767219	71496106	109419154	712	28985										
MRPS27	23107	genome.wustl.edu	37	chr5	71521910	71521910	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctacacagctttatgtcttCtggggaggcagccactttct	9	11	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:71521910C>G	ENST00000261413.5	-	9	850	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000457646.4_Missense_Mutation_p.E215Q|MRPS27_ENST00000513900.1_Missense_Mutation_p.E285Q	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	271						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTTATGTCTTCTGGGGAGGCA	0.473																																																	0													89	81	84					5																	71521910		2203	4300	6503	SO:0001583	missense	23107			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"Mitochondrial ribosomal proteins / small subunits"	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.811G>C	5.37:g.71521910C>G	ENSP00000261413:p.Glu271Gln		B4DRT2|Q6P1S1	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit	p.E285Q	ENST00000261413.5	37	c.853	CCDS4013.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730372	0.69074	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863	T;T;T;T	0.49720	0.79;0.78;0.8;0.77	5.78	5.78	0.91487	.	0.317949	0.38605	N	0.001627	T	0.61185	0.2327	L	0.59436	1.845	0.80722	D	1	D;D;P	0.58970	0.959;0.984;0.891	P;P;P	0.57679	0.783;0.825;0.575	T	0.51787	-0.8661	10	0.21014	T	0.42	-2.3241	20.0203	0.97492	0.0:1.0:0.0:0.0	.	285;52;271	B4DRT2;E7ETN4;Q92552	.;.;RT27_HUMAN	Q	271;215;285;215	ENSP00000261413:E271Q;ENSP00000428120:E215Q;ENSP00000426941:E285Q;ENSP00000426176:E215Q	ENSP00000261413:E271Q	E	-	1	0	MRPS27	71557666	0.139000	0.22563	0.108000	0.21378	0.881000	0.50899	2.927000	0.48900	2.730000	0.93505	0.655000	0.94253	GAA	MRPS27	-	pfam_Ribosomal_S27_mit		0.473	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	C	NM_015084		71521910	-1	no_errors	ENST00000513900	ensembl	human	known	70_37	missense	SNP	0.368	G	G	71521910	C	G	71521910	3	3	160	1	0	0	0	0	1	0	0	0	9861	922	32	1	445	1	MRPS27	5	71521910	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	25804	71521910	109393350	713	28986										
SV2C	22987	genome.wustl.edu	37	chr5	75428068	75428068	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggcatggctcttatggcaGacggtgtagaggtgtttgtc	16	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:75428068G>C	ENST00000502798.2	+	2	935	c.493G>C	c.(493-495)Gac>Cac	p.D165H	SV2C_ENST00000322285.7_Missense_Mutation_p.D165H	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	165					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTTATGGCAGACGGTGTAGA	0.517																																																	0													187	180	182					5																	75428068		2036	4185	6221	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.493G>C	5.37:g.75428068G>C	ENSP00000423541:p.Asp165His		Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.D165H	ENST00000502798.2	37	c.493	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728549	0.69074	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47869	0.83;0.83	5.9	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76222	-0.3038	10	0.54805	T	0.06	-22.14	14.9203	0.70832	0.0684:0.0:0.9316:0.0	.	165	Q496J9	SV2C_HUMAN	H	165	ENSP00000423541:D165H;ENSP00000316983:D165H	ENSP00000316983:D165H	D	+	1	0	SV2C	75463824	1.000000	0.71417	0.204000	0.23530	0.783000	0.44284	9.869000	0.99810	1.511000	0.48818	0.655000	0.94253	GAC	SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.517	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	G			75428068	1	no_errors	ENST00000502798	ensembl	human	known	70_37	missense	SNP	0.999	C	C	75428068	G	C	75428068	3	2	160	1	0	0	0	0	1	0	0	0	15449	942	33	1	495	1	SV2C	5	75428068	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3906158	75428068	105487192	714	28987										
CMYA5	202333	genome.wustl.edu	37	chr5	79029027	79029027	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtaatcaaaacatcatcttCtcagcattcagataaatctg	4	9	6	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:79029027C>G	ENST00000446378.2	+	2	4470	c.4439C>G	c.(4438-4440)tCt>tGt	p.S1480C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1480					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACATCATCTTCTCAGCATTCA	0.393																																																	0													92	89	90					5																	79029027		1851	4096	5947	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4439C>G	5.37:g.79029027C>G	ENSP00000394770:p.Ser1480Cys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1480C	ENST00000446378.2	37	c.4439	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163392	0.21538	.	.	ENSG00000164309	ENST00000446378	T	0.44083	0.93	4.84	3.96	0.45880	.	0.646131	0.12919	N	0.428353	T	0.30324	0.0761	N	0.22421	0.69	0.22610	N	0.998931	B	0.22414	0.069	B	0.17433	0.018	T	0.22034	-1.0228	10	0.56958	D	0.05	.	11.046	0.47859	0.0:0.8128:0.1872:0.0	.	1480	Q8N3K9	CMYA5_HUMAN	C	1480	ENSP00000394770:S1480C	ENSP00000394770:S1480C	S	+	2	0	CMYA5	79064783	0.516000	0.26218	0.432000	0.26747	0.007000	0.05969	1.431000	0.34925	1.256000	0.44068	0.655000	0.94253	TCT	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79029027	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.870	G	G	79029027	C	G	79029027	3	3	160	1	0	0	0	0	1	0	0	0	3595	913	32	1	4445	1	CMYA5	5	79029027	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3600959	79029027	101886233	715	28988										
ZFYVE16	9765	genome.wustl.edu	37	chr5	79734302	79734302	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atataatttgtgaaatagttGataaacaaaatacaatagaa	5	2	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:79734302G>C	ENST00000338008.5	+	3	1978	c.1798G>C	c.(1798-1800)Gat>Cat	p.D600H	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D600H|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D600H	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	600					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGAAATAGTTGATAAACAAAA	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)												0													63	73	69					5																	79734302		2202	4294	6496	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1798G>C	5.37:g.79734302G>C	ENSP00000337159:p.Asp600His		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.D600H	ENST00000338008.5	37	c.1798	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819692	0.50633	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.45668	0.89;0.89;0.89	5.42	5.42	0.78866	.	0.098652	0.44688	D	0.000423	T	0.43656	0.1257	L	0.36672	1.1	0.40744	D	0.982859	P;D	0.60575	0.86;0.988	B;P	0.50231	0.243;0.635	T	0.38693	-0.9649	10	0.56958	D	0.05	-16.5799	14.1973	0.65679	0.0:0.1494:0.8506:0.0	.	600;600	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	H	600	ENSP00000337159:D600H;ENSP00000423663:D600H;ENSP00000426848:D600H	ENSP00000337159:D600H	D	+	1	0	ZFYVE16	79770058	0.905000	0.30787	0.999000	0.59377	0.851000	0.48451	0.786000	0.26844	2.716000	0.92895	0.650000	0.86243	GAT	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	G	NM_014733		79734302	1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	0.959	C	C	79734302	G	C	79734302	3	2	160	1	0	0	0	0	1	0	0	0	17694	1290	45	1	1804	1	ZFYVE16	5	79734302	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	705275	79734302	101180958	716	28989										
TMEM167A	153339	genome.wustl.edu	37	chr5	82357701	82357701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attatagacacttaccaattCtggcacacttccaaaatata	3	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82357701C>T	ENST00000502346.1	-	3	315	c.143G>A	c.(142-144)aGa>aAa	p.R48K	SCARNA18_ENST00000459004.1_RNA|TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	48						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						CTTACCAATTCTGGCACACTT	0.299																																																	0													61	59	60					5																	82357701		2203	4299	6502	SO:0001583	missense	153339			BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"transmembrane protein 167"	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.143G>A	5.37:g.82357701C>T	ENSP00000424707:p.Arg48Lys		Q0P692	Missense_Mutation	SNP	pfam_DUF1242	p.R48K	ENST00000502346.1	37	c.143	CCDS34198.1	5	.	.	.	.	.	.	.	.	.	.	c	21.1	4.098749	0.76870	.	.	ENSG00000174695	ENST00000502346	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	.	.	.	0.51767	D	0.999937	B	0.28584	0.216	B	0.41466	0.358	T	0.64757	-0.6332	8	0.33141	T	0.24	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	48	Q8TBQ9	KISHA_HUMAN	K	48	.	ENSP00000424707:R48K	R	-	2	0	TMEM167A	82393457	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.473000	0.73572	2.876000	0.98609	0.645000	0.84053	AGA	TMEM167A	-	NULL		0.299	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM167A	HGNC	protein_coding	OTTHUMT00000369631.2	C	NM_174909		82357701	-1	no_errors	ENST00000502346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82357701	C	T	82357701	3	4	160	1	0	0	0	0	1	0	0	0	16111	913	32	1	83	1	TMEM167A	5	82357701	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2623399	82357701	98557559	717	28990										
VCAN	1462	genome.wustl.edu	37	chr5	82817006	82817006	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgttagttatagtagcaccCaagagcctactacttatgta	7	8	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82817006C>G	ENST00000265077.3	+	7	3446	c.2881C>G	c.(2881-2883)Caa>Gaa	p.Q961E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.Q913E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.Q961E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	961	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAGTAGCACCCAAGAGCCTAC	0.433																																																	0													128	123	125					5																	82817006		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2881C>G	5.37:g.82817006C>G	ENSP00000265077:p.Gln961Glu		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.Q961E	ENST00000265077.3	37	c.2881	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768641	0.31320	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19938	2.11;2.11;2.11	5.78	5.78	0.91487	.	0.114416	0.39020	N	0.001488	T	0.18635	0.0447	L	0.56769	1.78	0.33313	D	0.566271	B;P	0.35077	0.264;0.483	B;B	0.28011	0.085;0.084	T	0.17653	-1.0362	10	0.14252	T	0.57	.	12.5035	0.55968	0.1666:0.8334:0.0:0.0	.	961;961	P13611-3;P13611	.;CSPG2_HUMAN	E	961;961;913	ENSP00000265077:Q961E;ENSP00000342768:Q961E;ENSP00000425959:Q913E	ENSP00000265077:Q961E	Q	+	1	0	VCAN	82852762	0.005000	0.15991	1.000000	0.80357	0.871000	0.50021	1.051000	0.30417	2.732000	0.93576	0.591000	0.81541	CAA	VCAN	-	NULL		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82817006	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.990	G	G	82817006	C	G	82817006	3	3	160	1	0	0	0	0	1	0	0	0	17169	595	21	4	2903	4	VCAN	5	82817006	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	459305	82817006	98098254	718	28991										
VCAN	1462	genome.wustl.edu	37	chr5	82836182	82836182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctactcaggcaaccagacaaGaaagcagcaccacatttgtt	7	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:82836182G>A	ENST00000265077.3	+	8	7925	c.7360G>A	c.(7360-7362)Gaa>Aaa	p.E2454K	VCAN_ENST00000343200.5_Missense_Mutation_p.E1467K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2454	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACCAGACAAGAAAGCAGCAC	0.443																																																	0													114	110	111					5																	82836182		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7360G>A	5.37:g.82836182G>A	ENSP00000265077:p.Glu2454Lys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2454K	ENST00000265077.3	37	c.7360	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892632	0.17613	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.85339	-1.94;-1.97	6.17	3.47	0.39725	.	.	.	.	.	T	0.70570	0.3239	N	0.22421	0.69	0.19300	N	0.99998	B;B	0.28933	0.228;0.146	B;B	0.25140	0.058;0.038	T	0.53927	-0.8369	9	0.07813	T	0.8	.	7.8742	0.29584	0.356:0.0:0.644:0.0	.	1467;2454	P13611-2;P13611	.;CSPG2_HUMAN	K	2454;1467	ENSP00000265077:E2454K;ENSP00000340062:E1467K	ENSP00000265077:E2454K	E	+	1	0	VCAN	82871938	0.003000	0.15002	0.011000	0.14972	0.315000	0.28087	0.007000	0.13174	0.494000	0.27859	0.655000	0.94253	GAA	VCAN	-	NULL		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82836182	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.027	A	A	82836182	G	A	82836182	3	1	160	1	0	0	0	0	1	0	0	0	17169	943	33	1	7386	1	VCAN	5	82836182	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	19176	82836182	98079078	719	28992										
GPR98	84059	genome.wustl.edu	37	chr5	90008191	90008191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaaggagatgaaaaatttCagctgattttaacaaatcct	7	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:90008191C>G	ENST00000405460.2	+	42	9226	c.9130C>G	c.(9130-9132)Cag>Gag	p.Q3044E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3044	Calx-beta 21. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAATTTCAGCTGATTTT	0.343																																																	0													43	39	40					5																	90008191		1808	4062	5870	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9130C>G	5.37:g.90008191C>G	ENSP00000384582:p.Gln3044Glu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q3044E	ENST00000405460.2	37	c.9130	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.18|17.18	3.322696|3.322696	0.60634|0.60634	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	T|T	0.55413|0.28666	0.52|1.6	6.01|6.01	6.01|6.01	0.97437|0.97437	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.161561	.|0.56097	.|D	.|0.000028	T|T	0.33030|0.33030	0.0849|0.0849	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	.|B;D	.|0.53619	.|0.197;0.961	.|B;P	.|0.48304	.|0.111;0.573	T|T	0.00986|0.00986	-1.1490|-1.1490	7|10	0.39692|0.34782	T|T	0.17|0.22	.|.	20.5141|20.5141	0.99211|0.99211	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3044;3044	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|E	609|3044	ENSP00000422153:F609L|ENSP00000384582:Q3044E	ENSP00000422153:F609L|ENSP00000296619:Q3044E	F|Q	+|+	3|1	2|0	GPR98|GPR98	90043947|90043947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.906000|5.906000	0.69900|0.69900	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	TTC|CAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90008191	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90008191	C	G	90008191	3	3	160	1	0	0	0	0	1	0	0	0	6741	827	29	1	9296	1	GPR98	5	90008191	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7172009	90008191	90907069	720	28993										
CHD1	1105	genome.wustl.edu	37	chr5	98229157	98229157	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgtagcaaagaccagagctCtttgagggaattctgtagag	12	6	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:98229157C>G	ENST00000284049.3	-	13	2103	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GACCAGAGCTCTTTGAGGGAA	0.328																																																	0													78	88	85					5																	98229157		2203	4299	6502	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1954G>C	5.37:g.98229157C>G	ENSP00000284049:p.Glu652Gln		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E652Q	ENST00000284049.3	37	c.1954	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708936	0.89018	.	.	ENSG00000153922	ENST00000284049	D	0.94828	-3.53	5.45	5.45	0.79879	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.33916	U	0.004434	D	0.98754	0.9581	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99478	1.0947	10	0.87932	D	0	.	19.2893	0.94092	0.0:1.0:0.0:0.0	.	652	O14646	CHD1_HUMAN	Q	652	ENSP00000284049:E652Q	ENSP00000284049:E652Q	E	-	1	0	CHD1	98257057	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.792000	0.85828	2.569000	0.86673	0.585000	0.79938	GAG	CHD1	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.328	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	C	NM_001270		98229157	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98229157	C	G	98229157	3	3	160	1	0	0	0	0	1	0	0	0	3328	922	32	1	3270	1	CHD1	5	98229157	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	8220966	98229157	82686103	721	28994										
PPIP5K2	23262	genome.wustl.edu	37	chr5	102494886	102494886	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggagagcttacacccattCttgttcaaatggtgaaaagt	9	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:102494886C>G	ENST00000358359.3	+	17	2283	c.1774C>G	c.(1774-1776)Ctt>Gtt	p.L592V	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L592V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L592V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	592					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACACCCATTCTTGTTCAAAT	0.348																																																	0													106	106	106					5																	102494886		2203	4300	6503	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1774C>G	5.37:g.102494886C>G	ENSP00000351126:p.Leu592Val		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.L592V	ENST00000358359.3	37	c.1774		5	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852594	0.91355	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.18960	2.19;2.18;2.19	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000005	T	0.55970	0.1954	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.975	D;D	0.63877	0.919;0.919	T	0.65643	-0.6118	10	0.87932	D	0	-16.7215	19.7516	0.96271	0.0:1.0:0.0:0.0	.	592;592	O43314-2;O43314	.;VIP2_HUMAN	V	592	ENSP00000313070:L592V;ENSP00000351126:L592V;ENSP00000416016:L592V	ENSP00000313070:L592V	L	+	1	0	PPIP5K2	102522785	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.017000	0.57167	2.744000	0.94065	0.591000	0.81541	CTT	PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.348	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	C	NM_015216		102494886	1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102494886	C	G	102494886	3	3	160	1	0	0	0	0	1	0	0	0	12360	913	32	1	1836	1	PPIP5K2	5	102494886	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4265729	102494886	78420374	722	28995										
EFNA5	1946	genome.wustl.edu	37	chr5	106716965	106716965	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggagactgtgctataatgtCaaaagcatcgccaggaggaa	12	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:106716965C>T	ENST00000333274.6	-	5	959	c.678G>A	c.(676-678)ttG>ttA	p.L226L	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Silent_p.L199L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	226					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GCTATAATGTCAAAAGCATCG	0.522																																																	0													173	159	164					5																	106716965		2202	4300	6502	SO:0001819	synonymous_variant	1946			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.678G>A	5.37:g.106716965C>T				Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L226	ENST00000333274.6	37	c.678	CCDS4097.1	5																																																																																			EFNA5	-	NULL		0.522	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	C	NM_001962		106716965	-1	no_errors	ENST00000333274	ensembl	human	known	70_37	silent	SNP	1.000	T	T	106716965	C	T	106716965	2	4	160	1	0	0	0	0	0	0	0	1	4964	825	29	1		1	EFNA5	5	106716965	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4222079	106716965	74198295	723	28996										
PJA2	9867	genome.wustl.edu	37	chr5	108698712	108698712	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaatttctccctcttccaagGatgtctgttccctagtacaa					rs149837114		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:108698712G>A	ENST00000361189.2	-	6	1720	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	PJA2_ENST00000361557.3_Missense_Mutation_p.S494F	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	494					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CTCTTCCAAGGATGTCTGTTC	0.363													G|||	1	0.000199681	0	0	5008	,	,		18462	0		0	False		,,,				2504	0.001																0								G	PHE/SER	3,4401	6.2+/-15.9	0,3,2199	132	134	133		1481	5.2	1	5	dbSNP_134	133	4,8596	2.2+/-6.3	0,4,4296	yes	missense	PJA2	NM_014819.4	155	0,7,6495	AA,AG,GG		0.0465,0.0681,0.0538	benign	494/709	108698712	7,12997	2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1481C>T	5.37:g.108698712G>A	ENSP00000354775:p.Ser494Phe		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S494F	ENST00000361189.2	37	c.1481	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405663	0.62288	6.81E-4	4.65E-4	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05925	3.37;3.37	5.15	5.15	0.70609	.	0.082586	0.52532	D	0.000070	T	0.09291	0.0229	L	0.53249	1.67	0.42735	D	0.993724	P	0.37122	0.583	B	0.40165	0.321	T	0.17379	-1.0371	10	0.27082	T	0.32	-10.2244	12.5887	0.56432	0.0858:0.0:0.9142:0.0	.	494	O43164	PJA2_HUMAN	F	494	ENSP00000354775:S494F;ENSP00000355284:S494F	ENSP00000354775:S494F	S	-	2	0	PJA2	108726611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.615000	0.54167	2.694000	0.91930	0.467000	0.42956	TCC	PJA2	-	NULL		0.363	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	G	NM_014819		108698712	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	missense	SNP	0.996	A	A	108698712	G	A	108698712	3	1	160	1	0	0	0	0	1	0	0	0	11986	1174	41	1	665	1	PJA2	5	108698712	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1981747	108698712	72216548	724	28997	183	2								
PJA2	9867	genome.wustl.edu	37	chr5	108698717	108698717	+	Missense_Mutation	SNP	C	C	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctccctcttccaaggatgtCtgttccctagtacaaacatt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:108698717C>G	ENST00000361189.2	-	6	1715	c.1476G>C	c.(1474-1476)caG>caC	p.Q492H	PJA2_ENST00000361557.3_Missense_Mutation_p.Q492H	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	492					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCAAGGATGTCTGTTCCCTAG	0.358																																																	0													122	124	123					5																	108698717		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1476G>C	5.37:g.108698717C>G	ENSP00000354775:p.Gln492His		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q492H	ENST00000361189.2	37	c.1476	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770984	0.31320	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.07216	3.21;3.21	5.15	1.33	0.21861	.	0.084010	0.50627	N	0.000101	T	0.06962	0.0177	L	0.52126	1.63	0.45690	D	0.998604	B	0.12630	0.006	B	0.17979	0.02	T	0.29731	-1.0002	10	0.45353	T	0.12	-1.5325	2.1545	0.03809	0.1255:0.481:0.1219:0.2717	rs34807577	492	O43164	PJA2_HUMAN	H	492	ENSP00000354775:Q492H;ENSP00000355284:Q492H	ENSP00000354775:Q492H	Q	-	3	2	PJA2	108726616	0.986000	0.35501	0.998000	0.56505	0.972000	0.66771	0.112000	0.15479	0.061000	0.16311	0.467000	0.42956	CAG	PJA2	-	NULL		0.358	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	C	NM_014819		108698717	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	missense	SNP	0.999	G	G	108698717	C	G	108698717	3	3	160	1	0	0	0	0	1	0	0	0	11986	912	32	1	670	1	PJA2	5	108698717	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5	108698717	72216543	725	28998	183	2								
YTHDC2	64848	genome.wustl.edu	37	chr5	112868672	112868672	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcagctatcgctgtggctGaaagagttgccgcagagaga	15	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:112868672G>A	ENST00000161863.4	+	5	985	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E258K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	258	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CGCTGTGGCTGAAAGAGTTGC	0.413																																																	0													93	99	97					5																	112868672		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.772G>A	5.37:g.112868672G>A	ENSP00000161863:p.Glu258Lys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E258K	ENST00000161863.4	37	c.772	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559893	0.86335	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06371	3.31;3.31	5.64	5.64	0.86602	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.183173	0.50627	D	0.000114	T	0.11239	0.0274	L	0.43152	1.355	0.80722	D	1	P	0.51449	0.945	P	0.46585	0.521	T	0.00722	-1.1594	10	0.59425	D	0.04	.	17.878	0.88830	0.0:0.0:1.0:0.0	.	258	Q9H6S0	YTDC2_HUMAN	K	258;258;168	ENSP00000161863:E258K;ENSP00000423101:E258K	ENSP00000161863:E258K	E	+	1	0	YTHDC2	112896571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.765000	0.98953	2.660000	0.90430	0.467000	0.42956	GAA	YTHDC2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.413	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112868672	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112868672	G	A	112868672	3	1	160	1	0	0	0	0	1	0	0	0	17528	1291	45	1	790	1	YTHDC2	5	112868672	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4169955	112868672	68046588	726	28999										
YTHDC2	64848	genome.wustl.edu	37	chr5	112868725	112868725	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtcaaacaattggttatcaGatccgattagaaagcaggta	10	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:112868725G>C	ENST00000161863.4	+	5	1038	c.825G>C	c.(823-825)caG>caC	p.Q275H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.Q275H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	275	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGGTTATCAGATCCGATTAG	0.378																																																	0													76	79	78					5																	112868725		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.825G>C	5.37:g.112868725G>C	ENSP00000161863:p.Gln275His		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q275H	ENST00000161863.4	37	c.825	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341174	0.41498	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.07800	3.16;3.16	5.64	4.77	0.60923	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.059557	0.64402	D	0.000001	T	0.14184	0.0343	M	0.68593	2.085	0.51012	D	0.999902	B	0.24258	0.1	B	0.32624	0.149	T	0.01781	-1.1275	10	0.54805	T	0.06	.	12.909	0.58169	0.0751:0.0:0.9249:0.0	.	275	Q9H6S0	YTDC2_HUMAN	H	275;275;185	ENSP00000161863:Q275H;ENSP00000423101:Q275H	ENSP00000161863:Q275H	Q	+	3	2	YTHDC2	112896624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.164000	0.50770	1.397000	0.46682	0.467000	0.42956	CAG	YTHDC2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.378	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112868725	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112868725	G	C	112868725	3	2	160	1	0	0	0	0	1	0	0	0	17528	933	33	1	843	1	YTHDC2	5	112868725	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	53	112868725	68046535	727	29000										
HSD17B4	3295	genome.wustl.edu	37	chr5	118788278	118788278	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaggccttattcatgggctCaccgctgaggttcgacgggc	14	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:118788278C>T	ENST00000256216.6	+	1	141	c.8C>T	c.(7-9)tCa>tTa	p.S3L	HSD17B4_ENST00000510025.1_5'UTR|HSD17B4_ENST00000414835.2_5'Flank|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S3L|HSD17B4_ENST00000504811.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	3	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTCATGGGCTCACCGCTGAGG	0.692																																					Colon(35;490 801 34689 41394 43344)												0													94	83	87					5																	118788278		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.8C>T	5.37:g.118788278C>T	ENSP00000256216:p.Ser3Leu		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S3L	ENST00000256216.6	37	c.8	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528566	0.44969	.	.	ENSG00000133835	ENST00000256216;ENST00000515320	D;T	0.82344	-1.6;-1.25	4.96	0.825	0.18824	.	0.615974	0.17284	N	0.179887	T	0.73583	0.3605	L	0.46157	1.445	0.09310	N	0.999995	B;B	0.30937	0.103;0.301	B;B	0.35182	0.064;0.197	T	0.65150	-0.6238	10	0.62326	D	0.03	.	1.4251	0.02321	0.1646:0.4587:0.1807:0.196	.	3;3	E9PB82;P51659	.;DHB4_HUMAN	L	3	ENSP00000256216:S3L;ENSP00000424613:S3L	ENSP00000256216:S3L	S	+	2	0	HSD17B4	118816177	0.000000	0.05858	0.378000	0.26068	0.486000	0.33341	0.252000	0.18278	0.246000	0.21394	0.491000	0.48974	TCA	HSD17B4	-	NULL		0.692	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118788278	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.006	T	T	118788278	C	T	118788278	3	4	160	1	0	0	0	0	1	0	0	0	7406	838	29	1	10	1	HSD17B4	5	118788278	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5919553	118788278	62126982	728	29001										
HSD17B4	3295	genome.wustl.edu	37	chr5	118835193	118835193	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttatcataggtcagaaatCtatgatgggtggaggattag	13	3	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:118835193C>G	ENST00000256216.6	+	13	1287	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	HSD17B4_ENST00000513628.1_Missense_Mutation_p.S248C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S361C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.S245C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S123C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S367C|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S410C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	385	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGTCAGAAATCTATGATGGGT	0.358																																					Colon(35;490 801 34689 41394 43344)												0													123	135	131					5																	118835193		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1154C>G	5.37:g.118835193C>G	ENSP00000256216:p.Ser385Cys		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S385C	ENST00000256216.6	37	c.1154	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288342	0.10513	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.49	-0.114	0.13564	.	0.414174	0.28365	N	0.015609	T	0.67933	0.2946	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B	0.18461	0.004;0.002;0.002;0.028;0.009	B;B;B;B;B	0.17722	0.006;0.007;0.012;0.019;0.011	T	0.56667	-0.7941	10	0.48119	T	0.1	-2.7336	3.7546	0.08581	0.1182:0.518:0.2202:0.1436	.	410;367;361;123;385	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	385;367;361;410;245;248;123	ENSP00000256216:S385C;ENSP00000424613:S367C;ENSP00000424940:S361C;ENSP00000420914:S410C;ENSP00000411960:S245C;ENSP00000425993:S248C;ENSP00000426272:S123C	ENSP00000256216:S385C	S	+	2	0	HSD17B4	118863092	0.000000	0.05858	0.015000	0.15790	0.160000	0.22226	0.702000	0.25631	0.233000	0.21120	0.557000	0.71058	TCT	HSD17B4	-	NULL		0.358	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118835193	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.008	G	G	118835193	C	G	118835193	3	3	160	1	0	0	0	0	1	0	0	0	7406	913	32	1	1204	1	HSD17B4	5	118835193	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	46915	118835193	62080067	729	29002										
FAM170A	340069	genome.wustl.edu	37	chr5	118968449	118968449	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catacctttctcaggaatgtCaaagtcccaagaggatgccc	8	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:118968449C>T	ENST00000515256.1	+	2	249	c.77C>T	c.(76-78)tCa>tTa	p.S26L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	26					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCAGGAATGTCAAAGTCCCAA	0.478																																																	0													75	74	74					5																	118968449		1948	4135	6083	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.77C>T	5.37:g.118968449C>T	ENSP00000422684:p.Ser26Leu		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	NULL	p.S26L	ENST00000515256.1	37	c.77		5	.	.	.	.	.	.	.	.	.	.	C	2.245	-0.372997	0.05034	.	.	ENSG00000164334	ENST00000515256;ENST00000509264	T;T	0.31247	1.5;1.5	4.28	-1.82	0.07857	.	0.598904	0.14147	N	0.338244	T	0.16385	0.0394	L	0.31294	0.92	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.17433	0.006;0.018	T	0.22452	-1.0216	9	.	.	.	10.3655	4.2862	0.10857	0.1587:0.3752:0.0:0.4661	.	26;26	A1A519;A2VCN0	F170A_HUMAN;.	L	26	ENSP00000422684:S26L;ENSP00000423697:S26L	.	S	+	2	0	FAM170A	118996348	0.114000	0.22134	0.000000	0.03702	0.012000	0.07955	-0.182000	0.09726	-0.388000	0.07797	-0.136000	0.14681	TCA	FAM170A	-	NULL		0.478	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	FAM170A	HGNC	protein_coding	OTTHUMT00000371126.1	C	NM_182761		118968449	1	no_errors	ENST00000515256	ensembl	human	known	70_37	missense	SNP	0.000	T	T	118968449	C	T	118968449	3	4	160	1	0	0	0	0	1	0	0	0	5504	838	29	1	83	1	FAM170A	5	118968449	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133256	118968449	61946811	730	29003										
ZNF608	57507	genome.wustl.edu	37	chr5	123984271	123984271	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cattcaagtgccacattactCaatccttcctcacagtccga	4	15	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:123984271C>G	ENST00000306315.5	-	4	2241	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	ZNF608_ENST00000504926.1_Missense_Mutation_p.L175F	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	602							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCACATTACTCAATCCTTCCT	0.532																																																	0													199	169	179					5																	123984271		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1806G>C	5.37:g.123984271C>G	ENSP00000307746:p.Leu602Phe		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.L602F	ENST00000306315.5	37	c.1806	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	2.726	-0.265603	0.05754	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.49139	0.79;0.8	5.61	1.66	0.24008	.	0.402501	0.25258	N	0.031961	T	0.36413	0.0966	L	0.50333	1.59	0.21064	N	0.999799	B	0.30146	0.27	B	0.29716	0.106	T	0.26950	-1.0088	10	0.52906	T	0.07	-5.6413	5.0653	0.14578	0.0:0.4445:0.261:0.2945	.	602	Q9ULD9	ZN608_HUMAN	F	175;602;602;602	ENSP00000427657:L175F;ENSP00000307746:L602F	ENSP00000307746:L602F	L	-	3	2	ZNF608	124012170	0.919000	0.31177	0.286000	0.24833	0.256000	0.26092	-0.011000	0.12721	0.255000	0.21593	0.551000	0.68910	TTG	ZNF608	-	NULL		0.532	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984271	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	0.134	G	G	123984271	C	G	123984271	3	3	160	1	0	0	0	0	1	0	0	0	18064	825	29	1	2756	1	ZNF608	5	123984271	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5015822	123984271	56930989	731	29004										
ADAMTS19	171019	genome.wustl.edu	37	chr5	128887591	128887591	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcacaaagatgaaccatgtGatactgttggtaagtgtgaa	11	5	0	4	rs150064942	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:128887591G>A	ENST00000274487.4	+	7	1490	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	449	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAACCATGTGATACTGTTGG	0.308													G|||	2	0.000399361	0	0	5008	,	,		15268	0		0.002	False		,,,				2504	0																0								G	ASN/ASP	0,4404		0,0,2202	58	59	58		1345	3.8	1	5	dbSNP_134	58	4,8578	3.7+/-12.6	0,4,4287	yes	missense	ADAMTS19	NM_133638.3	23	0,4,6489	AA,AG,GG		0.0466,0.0,0.0308	probably-damaging	449/1208	128887591	4,12982	2202	4291	6493	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1345G>A	5.37:g.128887591G>A	ENSP00000274487:p.Asp449Asn			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D449N	ENST00000274487.4	37	c.1345	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126658	0.77549	0.0	4.66E-4	ENSG00000145808	ENST00000274487	D	0.86230	-2.09	3.83	3.83	0.44106	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	D	0.90181	0.6931	L	0.42686	1.345	0.47407	D	0.999419	D	0.89917	1.0	D	0.87578	0.998	D	0.89168	0.3535	9	.	.	.	.	15.6928	0.77469	0.0:0.0:1.0:0.0	.	449	Q8TE59	ATS19_HUMAN	N	449	ENSP00000274487:D449N	.	D	+	1	0	ADAMTS19	128915490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.259000	0.72494	2.432000	0.82394	0.591000	0.81541	GAT	ADAMTS19	-	pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		128887591	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128887591	G	A	128887591	3	1	160	1	0	0	0	0	1	0	0	0	264	1290	45	1	1371	1	ADAMTS19	5	128887591	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4903320	128887591	52027669	732	29005										
ADAMTS19	171019	genome.wustl.edu	37	chr5	129037283	129037283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggaggcgggagtgtggtctGaggtgcatacatgccccctt	17	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:129037283G>A	ENST00000274487.4	+	20	3284	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1047	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTGTGGTCTGAGGTGCATAC	0.557																																																	0													60	56	58					5																	129037283		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3139G>A	5.37:g.129037283G>A	ENSP00000274487:p.Glu1047Lys			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1047K	ENST00000274487.4	37	c.3139	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915117	0.52546	.	.	ENSG00000145808	ENST00000274487	T	0.54279	0.58	3.86	3.86	0.44501	.	0.081952	0.48286	D	0.000198	T	0.40119	0.1104	N	0.20304	0.555	0.53688	D	0.999976	B	0.21688	0.059	B	0.29353	0.101	T	0.19976	-1.0289	9	.	.	.	.	17.1013	0.86651	0.0:0.0:1.0:0.0	.	1047	Q8TE59	ATS19_HUMAN	K	1047	ENSP00000274487:E1047K	.	E	+	1	0	ADAMTS19	129065182	0.999000	0.42202	0.998000	0.56505	0.870000	0.49936	2.804000	0.47931	2.438000	0.82558	0.650000	0.86243	GAG	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.557	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		129037283	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129037283	G	A	129037283	3	1	160	1	0	0	0	0	1	0	0	0	264	1291	45	1	3217	1	ADAMTS19	5	129037283	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	149692	129037283	51877977	733	29006										
P4HA2	8974	genome.wustl.edu	37	chr5	131545021	131545021	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctccagctcgttcgtggcttGggtctagaaaatgcaaggaa	12	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:131545021G>C	ENST00000401867.1	-	8	1281	c.713C>G	c.(712-714)cCa>cGa	p.P238R	P4HA2_ENST00000379100.2_Missense_Mutation_p.P238R|P4HA2_ENST00000360568.3_Missense_Mutation_p.P238R|P4HA2_ENST00000166534.4_Missense_Mutation_p.P238R|P4HA2_ENST00000379086.1_Missense_Mutation_p.P238R|P4HA2_ENST00000379104.2_Missense_Mutation_p.P238R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	238					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TTCGTGGCTTGGGTCTAGAAA	0.433																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													135	135	135					5																	131545021		2203	4300	6503	SO:0001583	missense	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.713C>G	5.37:g.131545021G>C	ENSP00000384999:p.Pro238Arg		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P238R	ENST00000401867.1	37	c.713	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285033	0.80803	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.269490	0.41938	D	0.000782	T	0.70771	0.3262	M	0.92833	3.35	0.80722	D	1	P;D	0.54397	0.858;0.966	P;P	0.54856	0.464;0.762	T	0.78718	-0.2095	10	0.87932	D	0	0.848	15.9913	0.80208	0.0:0.1348:0.8652:0.0	.	238;238	O15460;O15460-2	P4HA2_HUMAN;.	R	238	ENSP00000384999:P238R;ENSP00000368379:P238R;ENSP00000166534:P238R;ENSP00000353772:P238R;ENSP00000368398:P238R;ENSP00000368394:P238R	ENSP00000166534:P238R	P	-	2	0	P4HA2	131572920	1.000000	0.71417	0.842000	0.33263	0.852000	0.48524	7.368000	0.79567	2.744000	0.94065	0.655000	0.94253	CCA	P4HA2	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.433	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	G	NM_004199		131545021	-1	no_errors	ENST00000166534	ensembl	human	known	70_37	missense	SNP	0.997	C	C	131545021	G	C	131545021	3	2	160	1	0	0	0	0	1	0	0	0	11381	1348	47	4	994	4	P4HA2	5	131545021	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2507738	131545021	49370239	734	29007										
RAD50	10111	genome.wustl.edu	37	chr5	131923747	131923747	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aataaagaatctaggcttctCaatcaggaaaaatcagaact	6	7	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:131923747C>G	ENST00000265335.6	+	7	1404	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	RAD50_ENST00000378823.3_Silent_p.L200L|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	339					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGCTTCTCAATCAGGAAA	0.343								Homologous recombination																																									0													78	73	75					5																	131923747		2203	4300	6503	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1017C>G	5.37:g.131923747C>G			B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.L339	ENST00000265335.6	37	c.1017	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50		0.343	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	C	NM_005732		131923747	1	no_errors	ENST00000265335	ensembl	human	known	70_37	silent	SNP	0.993	G	G	131923747	C	G	131923747	2	3	160	1	0	0	0	0	0	0	0	1	13014	813	29	1		1	RAD50	5	131923747	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	378726	131923747	48991513	735	29008										
SHROOM1	134549	genome.wustl.edu	37	chr5	132161162	132161162	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatccagctttcctggctctGagaagcaccacttccgctgc	9	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:132161162G>C	ENST00000378679.3	-	4	1475	c.671C>G	c.(670-672)tCa>tGa	p.S224*	SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.S224*|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.S224*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	224	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTGGCTCTGAGAAGCACCA	0.756																																																	0													9	11	10					5																	132161162		2158	4262	6420	SO:0001587	stop_gained	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.671C>G	5.37:g.132161162G>C	ENSP00000367950:p.Ser224*		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	pfam_ASD2,pfam_ASD1	p.S224*	ENST00000378679.3	37	c.671	CCDS54902.1	5	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166803	0.57476	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	.	.	.	4.57	4.57	0.56435	.	0.072609	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7457	13.5744	0.61866	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000324245:S224X	S	-	2	0	SHROOM1	132189061	0.998000	0.40836	0.858000	0.33744	0.018000	0.09664	3.143000	0.50608	2.473000	0.83533	0.462000	0.41574	TCA	SHROOM1	-	pfam_ASD1		0.756	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	G	NM_133456		132161162	-1	no_errors	ENST00000378679	ensembl	human	known	70_37	nonsense	SNP	0.977	C	C	132161162	G	C	132161162	4	2	160	1	0	0	0	0	0	1	0	0	14323	1294	45	1	1915	1	SHROOM1	5	132161162	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	237415	132161162	48754098	736	29009										
DDX46	9879	genome.wustl.edu	37	chr5	134116909	134116909	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gataagaagaaaggtgagctGatggagaatgaccaggatgc	15	4	0	6	rs199916851		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:134116909G>A	ENST00000354283.4	+	7	987	c.852G>A	c.(850-852)ctG>ctA	p.L284L	DDX46_ENST00000452510.2_Silent_p.L284L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	284					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGGTGAGCTGATGGAGAATG	0.378																																					Colon(13;391 453 4901 21675 24897)												0													100	104	103					5																	134116909		2203	4300	6503	SO:0001819	synonymous_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.852G>A	5.37:g.134116909G>A			O94894|Q96EI0|Q9Y658	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L284	ENST00000354283.4	37	c.852	CCDS34240.1	5																																																																																			DDX46	-	NULL		0.378	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134116909	1	no_errors	ENST00000452510	ensembl	human	known	70_37	silent	SNP	1.000	A	A	134116909	G	A	134116909	2	1	160	1	0	0	0	0	0	0	0	1	4369	1277	45	1		1	DDX46	5	134116909	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1955747	134116909	46798351	737	29010										
KLHL3	26249	genome.wustl.edu	37	chr5	136964039	136964039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttgcttccaggtatttgttCcaggatcgtaaacctcaacg	8	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:136964039C>T	ENST00000309755.4	-	13	1981	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000508657.1_Missense_Mutation_p.G481E|KLHL3_ENST00000506491.1_Missense_Mutation_p.G431E|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	513					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGTATTTGTTCCAGGATCGTA	0.547																																																	0													255	217	230					5																	136964039		2203	4300	6503	SO:0001583	missense	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1538G>A	5.37:g.136964039C>T	ENSP00000312397:p.Gly513Glu		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G513E	ENST00000309755.4	37	c.1538	CCDS4192.1	5	.	.	.	.	.	.	.	.	.	.	C	5.468	0.271398	0.10349	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	T;T;T	0.75260	-0.92;-0.92;-0.92	5.65	5.65	0.86999	Galactose oxidase, beta-propeller (1);	0.291833	0.38837	N	0.001553	T	0.37404	0.1002	N	0.00202	-1.86	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.52801	-0.8527	10	0.09084	T	0.74	.	15.3988	0.74818	0.0:0.8616:0.1384:0.0	.	248;513	B7Z6E2;Q9UH77	.;KLHL3_HUMAN	E	431;481;513	ENSP00000424828:G431E;ENSP00000422099:G481E;ENSP00000312397:G513E	ENSP00000312397:G513E	G	-	2	0	KLHL3	136991938	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	2.550000	0.45811	2.941000	0.99782	0.655000	0.94253	GGA	KLHL3	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.547	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2	C			136964039	-1	no_errors	ENST00000309755	ensembl	human	known	70_37	missense	SNP	0.845	T	T	136964039	C	T	136964039	3	4	160	1	0	0	0	0	1	0	0	0	8403	855	30	1	237	1	KLHL3	5	136964039	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2847130	136964039	43951221	738	29011										
WNT8A	7478	genome.wustl.edu	37	chr5	137420241	137420241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcccagagtggcatcgagGagtgcaagttccagtttgct	14	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:137420241G>A	ENST00000398754.1	+	3	162	c.157G>A	c.(157-159)Gag>Aag	p.E53K	WNT8A_ENST00000506684.1_Missense_Mutation_p.E71K	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	53					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCATCGAGGAGTGCAAGTT	0.547																																																	0													79	83	82					5																	137420241		2081	4245	6326	SO:0001583	missense	7478			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.157G>A	5.37:g.137420241G>A	ENSP00000381739:p.Glu53Lys		Q96S51	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.E53K	ENST00000398754.1	37	c.157	CCDS43368.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.133152	0.94517	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.80214	-1.35;-1.35;-1.35	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.991;0.978	D	0.95872	0.8892	10	0.87932	D	0	.	18.7819	0.91937	0.0:0.0:1.0:0.0	.	71;71;53	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	K	71;71;53	ENSP00000426653:E71K;ENSP00000424809:E71K;ENSP00000381739:E53K	ENSP00000354726:E53K	E	+	1	0	WNT8A	137448140	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.263000	0.95617	2.746000	0.94184	0.655000	0.94253	GAG	WNT8A	-	pfam_Wnt,smart_Wnt		0.547	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8A	HGNC	protein_coding	OTTHUMT00000280395.1	G	NM_058244		137420241	1	no_errors	ENST00000361560	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137420241	G	A	137420241	3	1	160	1	0	0	0	0	1	0	0	0	17427	1175	41	1	167	1	WNT8A	5	137420241	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	456202	137420241	43495019	739	29012										
KIF20A	10112	genome.wustl.edu	37	chr5	137518570	137518570	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggagctgtccacttccttGaagaggagtgtctacatcga	12	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:137518570G>A	ENST00000394894.3	+	7	949	c.723G>A	c.(721-723)ttG>ttA	p.L241L	KIF20A_ENST00000508792.1_Silent_p.L223L	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	241	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCACTTCCTTGAAGAGGAGTG	0.537																																																	0													67	64	65					5																	137518570		2203	4300	6503	SO:0001819	synonymous_variant	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.723G>A	5.37:g.137518570G>A			B4DL79|D3DQB6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L241	ENST00000394894.3	37	c.723	CCDS4199.1	5																																																																																			KIF20A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.537	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	G	NM_005733		137518570	1	no_errors	ENST00000394894	ensembl	human	known	70_37	silent	SNP	1.000	A	A	137518570	G	A	137518570	2	1	160	1	0	0	0	0	0	0	0	1	8306	1281	45	1		1	KIF20A	5	137518570	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	98329	137518570	43396690	740	29013										
CDC25C	995	genome.wustl.edu	37	chr5	137621806	137621806	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttcagagacctgtcctcttCacgcagacagcggcaccttt	9	14	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:137621806C>T	ENST00000323760.6	-	13	1455	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	CDC25C_ENST00000514555.1_Missense_Mutation_p.E363K|CDC25C_ENST00000357274.3_Missense_Mutation_p.E350K|CDC25C_ENST00000415130.2_Missense_Mutation_p.E320K|CDC25C_ENST00000513970.1_Missense_Mutation_p.E393K|CDC25C_ENST00000356505.3_Missense_Mutation_p.E363K|CDC25C_ENST00000348983.3_Missense_Mutation_p.E320K	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	393	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGTCCTCTTCACGCAGACAG	0.512																																																	0													81	82	82					5																	137621806		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1177G>A	5.37:g.137621806C>T	ENSP00000321656:p.Glu393Lys		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E393K	ENST00000323760.6	37	c.1177	CCDS4202.1	5	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518869	0.64634	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.35	4.48	0.54585	Rhodanese-like (5);	0.128967	0.49916	D	0.000121	T	0.39091	0.1065	L	0.37466	1.105	0.44030	D	0.996758	D;D;P;D	0.63880	0.988;0.992;0.789;0.993	P;P;B;P	0.55011	0.59;0.655;0.158;0.766	T	0.28138	-1.0053	10	0.56958	D	0.05	-3.5703	15.5484	0.76126	0.0:0.8614:0.1386:0.0	.	410;363;320;393	G3V1P6;P30307-2;P30307-4;P30307	.;.;.;MPIP3_HUMAN	K	393;363;350;320;320;393;410;363	ENSP00000321656:E393K;ENSP00000348898:E363K;ENSP00000349821:E350K;ENSP00000345205:E320K;ENSP00000392631:E320K;ENSP00000424795:E393K;ENSP00000425470:E363K	ENSP00000321656:E393K	E	-	1	0	CDC25C	137649705	1.000000	0.71417	0.997000	0.53966	0.639000	0.38242	2.719000	0.47244	1.623000	0.50342	0.655000	0.94253	GAA	CDC25C	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.512	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	C			137621806	-1	no_errors	ENST00000323760	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137621806	C	T	137621806	3	4	160	1	0	0	0	0	1	0	0	0	3069	835	29	1	252	1	CDC25C	5	137621806	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	103236	137621806	43293454	741	29014										
LRRTM2	26045	genome.wustl.edu	37	chr5	138210089	138210089	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtctgtggcgtttggcactGagtggaagccctgagagtcg	16	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:138210089G>C	ENST00000274711.6	-	2	539	c.161C>G	c.(160-162)tCa>tGa	p.S54*	LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	54	LRRNT.				long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S54L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTGGCACTGAGTGGAAGCC	0.532																																																	1	Substitution - Missense(1)	breast(1)											51	50	50					5																	138210089		2004	4163	6167	SO:0001587	stop_gained	26045			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.161C>G	5.37:g.138210089G>C	ENSP00000274711:p.Ser54*		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S54*	ENST00000274711.6	37	c.161	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.371601	0.95923	.	.	ENSG00000146006	ENST00000274711	.	.	.	5.14	5.14	0.70334	.	0.080135	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.0574	0.64779	0.0:0.1509:0.8491:0.0	.	.	.	.	X	54	.	ENSP00000274711:S54X	S	-	2	0	LRRTM2	138237988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.342000	0.65970	2.675000	0.91044	0.655000	0.94253	TCA	LRRTM2	-	NULL		0.532	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	G			138210089	-1	no_errors	ENST00000274711	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	138210089	G	C	138210089	4	2	160	1	0	0	0	0	0	1	0	0	9063	1294	45	1	1393	1	LRRTM2	5	138210089	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	588283	138210089	42705171	742	29015										
MATR3	9782	genome.wustl.edu	37	chr5	138643658	138643658	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaagaaaaaaggcactttaGaagagatagttttgatgatc	11	3	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:138643658G>C	ENST00000394805.3	+	2	889	c.554G>C	c.(553-555)aGa>aCa	p.R185T	MATR3_ENST00000510056.1_Missense_Mutation_p.R185T|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.R185T|MATR3_ENST00000509990.1_Missense_Mutation_p.R185T|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R185T|MATR3_ENST00000394800.2_Missense_Mutation_p.R185T	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	185					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGCACTTTAGAAGAGATAGT	0.443																																																	0													125	117	120					5																	138643658		2203	4300	6503	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.554G>C	5.37:g.138643658G>C	ENSP00000378284:p.Arg185Thr		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.R185T	ENST00000394805.3	37	c.554	CCDS4210.1	5	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282693	0.59867	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	T;T;T;T;T;D;T	0.82255	-1.3;-1.3;-1.3;-1.3;-1.3;-1.59;-1.32	5.53	5.53	0.82687	.	0.123194	0.85682	D	0.000000	D	0.85779	0.5776	L	0.29908	0.895	0.58432	D	0.999995	D;P;D	0.58268	0.982;0.717;0.982	D;P;D	0.63033	0.91;0.692;0.91	D	0.83917	0.0299	10	0.33940	T	0.23	-13.1769	19.8241	0.96610	0.0:0.0:1.0:0.0	.	185;185;185	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	T	185	ENSP00000423533:R185T;ENSP00000354346:R185T;ENSP00000422319:R185T;ENSP00000378279:R185T;ENSP00000378284:R185T;ENSP00000423290:R185T;ENSP00000426743:R185T	ENSP00000354346:R185T	R	+	2	0	MATR3	138671557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.510000	0.90532	2.758000	0.94735	0.655000	0.94253	AGA	MATR3	-	NULL		0.443	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	G	NM_018834		138643658	1	no_errors	ENST00000361059	ensembl	human	known	70_37	missense	SNP	1.000	C	C	138643658	G	C	138643658	3	2	160	1	0	0	0	0	1	0	0	0	9360	942	33	1	556	1	MATR3	5	138643658	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	433569	138643658	42271602	743	29016										
DNAJC18	202052	genome.wustl.edu	37	chr5	138755781	138755781	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaactagtctggatataatCaatgtaatccttctctattg	5	8	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:138755781C>G	ENST00000302060.5	-	7	993	c.913G>C	c.(913-915)Gat>Cat	p.D305H		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	305						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGATATAATCAATGTAATCC	0.448																																																	0													154	145	148					5																	138755781		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.913G>C	5.37:g.138755781C>G	ENSP00000302843:p.Asp305His			Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D305H	ENST00000302060.5	37	c.913	CCDS4214.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.86|14.86	2.661322|2.661322	0.47572|0.47572	.|.	.|.	ENSG00000170464|ENSG00000170464	ENST00000302060;ENST00000508445|ENST00000514052	T;T|.	0.42513|.	0.97;0.97|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Domain of unknown function DUF1977, DnaJ-like (1);|.	0.050735|.	0.85682|.	D|.	0.000000|.	T|T	0.71151|0.71151	0.3306|0.3306	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68353|.	0.957|.	T|T	0.67597|0.67597	-0.5630|-0.5630	10|5	0.41790|.	T|.	0.15|.	-8.2106|-8.2106	18.1041|18.1041	0.89515|0.89515	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	305|.	Q9H819|.	DJC18_HUMAN|.	H|F	305;138|96	ENSP00000302843:D305H;ENSP00000426338:D138H|.	ENSP00000302843:D305H|.	D|L	-|-	1|3	0|2	DNAJC18|DNAJC18	138783680|138783680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.008000|0.008000	0.06430|0.06430	4.536000|4.536000	0.60636|0.60636	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	GAT|TTG	DNAJC18	-	pfam_DUF1977_DnaJ-like		0.448	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC18	HGNC	protein_coding	OTTHUMT00000374191.1	C	NM_152686		138755781	-1	no_errors	ENST00000302060	ensembl	human	known	70_37	missense	SNP	1.000	G	G	138755781	C	G	138755781	3	3	160	1	0	0	0	0	1	0	0	0	4647	826	29	1	171	1	DNAJC18	5	138755781	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	112123	138755781	42159479	744	29017										
ANKHD1	54882	genome.wustl.edu	37	chr5	139884447	139884447	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggttccaacagttcttctCagaccacagagtgtcttaca	7	12	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:139884447C>T	ENST00000360839.2	+	16	3200	c.3046C>T	c.(3046-3048)Cag>Tag	p.Q1016*	ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q1016*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q1016*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1016						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTTCTCAGACCACAGA	0.423																																																	0													146	133	137					5																	139884447		2203	4300	6503	SO:0001587	stop_gained	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3046C>T	5.37:g.139884447C>T	ENSP00000354085:p.Gln1016*		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q1016*	ENST00000360839.2	37	c.3046	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	43	10.097740	0.99336	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.	.	.	5.22	5.22	0.72569	.	0.232067	0.37136	N	0.002237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.7978	0.92003	0.0:1.0:0.0:0.0	.	.	.	.	X	1016;1049;1016;1016;550;227;1035;169;1016	.	ENSP00000432016:Q1016X	Q	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139864631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.443000	0.82685	0.650000	0.86243	CAG	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139884447	1	no_errors	ENST00000297183	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	139884447	C	T	139884447	4	4	160	1	0	0	0	0	0	1	0	0	628	827	29	1	3214	1	ANKHD1	5	139884447	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1128666	139884447	41030813	745	29018										
PCDHA11	56138	genome.wustl.edu	37	chr5	140249551	140249551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgtcaattaagcccaatgGaagacacttatttacactag	6	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140249551G>T	ENST00000398640.2	+	1	863	c.863G>T	c.(862-864)gGa>gTa	p.G288V	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCCAATGGAAGACACTTA	0.373																																																	0													37	37	37					5																	140249551		1920	4134	6054	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.863G>T	5.37:g.140249551G>T	ENSP00000381636:p.Gly288Val		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G288V	ENST00000398640.2	37	c.863	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.711456	0.00712	.	.	ENSG00000249158	ENST00000398640	T	0.61980	0.06	5.58	3.77	0.43336	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23649	0.0572	N	0.00514	-1.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.24548	-1.0157	9	0.02654	T	1	.	8.5558	0.33480	0.2593:0.0:0.7407:0.0	.	288;288	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	288	ENSP00000381636:G288V	ENSP00000381636:G288V	G	+	2	0	PCDHA11	140229735	0.000000	0.05858	0.500000	0.27589	0.415000	0.31203	-0.021000	0.12504	2.638000	0.89438	0.563000	0.77884	GGA	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249551	1	no_errors	ENST00000398640	ensembl	human	known	70_37	missense	SNP	0.001	T	T	140249551	G	T	140249551	3	4	160	1	0	0	0	0	1	0	0	0	11545	1174	41	3	865	3	PCDHA11	5	140249551	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	365104	140249551	40665709	746	29019										
PCDHB2	56133	genome.wustl.edu	37	chr5	140476557	140476557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcctcggtgggtcgctgctCggtgcccgagggcccctttc	16	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140476557C>T	ENST00000194155.4	+	1	2331	c.2183C>T	c.(2182-2184)tCg>tTg	p.S728L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	728					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCGGTGCCCGAG	0.677																																																	0													16	20	18					5																	140476557		2134	4168	6302	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2183C>T	5.37:g.140476557C>T	ENSP00000194155:p.Ser728Leu		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S728L	ENST00000194155.4	37	c.2183	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023889	0.08006	.	.	ENSG00000112852	ENST00000194155	T	0.47869	0.83	4.45	3.29	0.37713	.	.	.	.	.	T	0.41236	0.1150	M	0.64404	1.975	0.09310	N	1	B	0.19331	0.035	B	0.13407	0.009	T	0.17745	-1.0359	9	0.29301	T	0.29	.	6.8494	0.24006	0.0:0.7464:0.0:0.2536	.	728	Q9Y5E7	PCDB2_HUMAN	L	728	ENSP00000194155:S728L	ENSP00000194155:S728L	S	+	2	0	PCDHB2	140456741	0.000000	0.05858	0.626000	0.29213	0.176000	0.22953	0.601000	0.24119	2.169000	0.68431	0.558000	0.71614	TCG	PCDHB2	-	NULL		0.677	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	C	NM_018936		140476557	1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.002	T	T	140476557	C	T	140476557	3	4	160	1	0	0	0	0	1	0	0	0	11566	893	31	1	2185	1	PCDHB2	5	140476557	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	227006	140476557	40438703	747	29020										
PCDHB6	56130	genome.wustl.edu	37	chr5	140530897	140530897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgtcgttcttcatcagcctCatcccagaaaacttaccaga	5	13	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140530897C>T	ENST00000231136.1	+	1	1059	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	PCDHB6_ENST00000543635.1_Silent_p.L217L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATCAGCCTCATCCCAGAAA	0.458																																																	0													109	101	104					5																	140530897		2203	4300	6503	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1059C>T	5.37:g.140530897C>T			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L353	ENST00000231136.1	37	c.1059	CCDS4248.1	5																																																																																			PCDHB6	-	superfamily_Cadherin-like,pfscan_Cadherin		0.458	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140530897	1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.005	T	T	140530897	C	T	140530897	2	4	160	1	0	0	0	0	0	0	0	1	11570	813	29	1		1	PCDHB6	5	140530897	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	54340	140530897	40384363	748	29021										
PCDHB7	56129	genome.wustl.edu	37	chr5	140552567	140552567	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcttaccaacttggcaaaaGacctagggttaggggtaggg	13	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140552567G>C	ENST00000231137.3	+	1	325	c.151G>C	c.(151-153)Gac>Cac	p.D51H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGCAAAAGACCTAGGGTT	0.498																																																	0													91	92	91					5																	140552567		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.151G>C	5.37:g.140552567G>C	ENSP00000231137:p.Asp51His		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D51H	ENST00000231137.3	37	c.151	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136906	0.37728	.	.	ENSG00000113212	ENST00000231137	T	0.34472	1.36	4.79	3.86	0.44501	Cadherin, N-terminal (1);	.	.	.	.	T	0.68311	0.2987	M	0.93283	3.4	0.42832	D	0.994022	D	0.89917	1.0	D	0.97110	1.0	T	0.78607	-0.2138	9	0.87932	D	0	.	14.5185	0.67835	0.0:0.0:0.8533:0.1467	.	51	Q9Y5E2	PCDB7_HUMAN	H	51	ENSP00000231137:D51H	ENSP00000231137:D51H	D	+	1	0	PCDHB7	140532751	1.000000	0.71417	0.651000	0.29564	0.080000	0.17528	7.493000	0.81493	2.357000	0.79964	0.655000	0.94253	GAC	PCDHB7	-	pfam_Cadherin_N,superfamily_Cadherin-like		0.498	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	G	NM_018940		140552567	1	no_errors	ENST00000231137	ensembl	human	known	70_37	missense	SNP	0.972	C	C	140552567	G	C	140552567	3	2	160	1	0	0	0	0	1	0	0	0	11571	942	33	1	153	1	PCDHB7	5	140552567	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	21670	140552567	40362693	749	29022										
PCDHB7	56129	genome.wustl.edu	37	chr5	140553673	140553673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaacactgagtacaacatCaccatcaccgtcaccgactt	6	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140553673C>G	ENST00000231137.3	+	1	1431	c.1257C>G	c.(1255-1257)atC>atG	p.I419M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTACAACATCACCATCACCG	0.522																																																	0													143	129	133					5																	140553673		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1257C>G	5.37:g.140553673C>G	ENSP00000231137:p.Ile419Met		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I419M	ENST00000231137.3	37	c.1257	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211764	0.39102	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.41400	1.0	4.61	2.68	0.31781	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72606	0.3481	H	0.96269	3.795	0.29695	N	0.840624	D	0.59767	0.986	D	0.72075	0.976	T	0.71234	-0.4653	9	0.87932	D	0	.	10.9682	0.47424	0.0:0.7228:0.1957:0.0814	.	419	Q9Y5E2	PCDB7_HUMAN	M	419;202	ENSP00000231137:I419M	ENSP00000231137:I419M	I	+	3	3	PCDHB7	140533857	0.001000	0.12720	1.000000	0.80357	0.918000	0.54935	-0.646000	0.05403	1.043000	0.40175	-0.145000	0.13849	ATC	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140553673	1	no_errors	ENST00000231137	ensembl	human	known	70_37	missense	SNP	0.997	G	G	140553673	C	G	140553673	3	3	160	1	0	0	0	0	1	0	0	0	11571	816	29	1	1259	1	PCDHB7	5	140553673	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1106	140553673	40361587	750	29023										
PCDHB10	56126	genome.wustl.edu	37	chr5	140573946	140573946	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggctgtcgtaccagctgctCaaggccacggagcccgggct	14	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140573946C>G	ENST00000239446.4	+	1	2005	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAGCTGCTCAAGGCCACGG	0.716																																																	0													5	7	7					5																	140573946		1428	2873	4301	SO:0001819	synonymous_variant	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1821C>G	5.37:g.140573946C>G			Q96T99	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L607	ENST00000239446.4	37	c.1821	CCDS4252.1	5																																																																																			PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.716	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	C	NM_018930		140573946	1	no_errors	ENST00000239446	ensembl	human	known	70_37	silent	SNP	0.072	G	G	140573946	C	G	140573946	2	3	160	1	0	0	0	0	0	0	0	1	11559	813	29	1		1	PCDHB10	5	140573946	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	20273	140573946	40341314	751	29024										
PCDHB12	56124	genome.wustl.edu	37	chr5	140590708	140590708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggacgtgagtggcaccggGaccctgtcccagagctacca	14	13	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140590708G>A	ENST00000239450.2	+	1	2418	c.2229G>A	c.(2227-2229)ggG>ggA	p.G743G	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Silent_p.G406G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	743					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCACCGGGACCCTGTCCC	0.602																																																	0													69	74	72					5																	140590708		2203	4300	6503	SO:0001819	synonymous_variant	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2229G>A	5.37:g.140590708G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G743	ENST00000239450.2	37	c.2229	CCDS4254.1	5																																																																																			PCDHB12	-	NULL		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	G	NM_018932		140590708	1	no_errors	ENST00000239450	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140590708	G	A	140590708	2	1	160	1	0	0	0	0	0	0	0	1	11561	1161	41	1		1	PCDHB12	5	140590708	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	16762	140590708	40324552	752	29025										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140723829	140723829	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaggacgcagcttttctctCtgaatccgcaaagcggcagc	11	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140723829C>G	ENST00000253812.6	+	1	229	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTCTCTCTGAATCCGCA	0.597											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													60	70	67					5																	140723829		2173	4293	6466	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.229C>G	5.37:g.140723829C>G	ENSP00000253812:p.Leu77Val	1658	Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L77V	ENST00000253812.6	37	c.229	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	1.308	-0.602884	0.03744	.	.	ENSG00000254245	ENST00000253812	T	0.37752	1.18	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.26907	U	0.021883	T	0.37652	0.1011	L	0.48362	1.52	0.24858	N	0.992364	P;P	0.47191	0.891;0.463	P;P	0.51297	0.534;0.665	T	0.30001	-0.9993	10	0.21540	T	0.41	.	7.16	0.25659	0.0:0.7212:0.1659:0.1129	.	77;77	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	77	ENSP00000253812:L77V	ENSP00000253812:L77V	L	+	1	2	PCDHGA3	140704013	0.000000	0.05858	0.998000	0.56505	0.025000	0.11179	-2.244000	0.01193	2.824000	0.97209	0.655000	0.94253	CTG	PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.597	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140723829	1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140723829	C	G	140723829	3	3	160	1	0	0	0	0	1	0	0	0	11579	912	32	1	231	1	PCDHGA3	5	140723829	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133121	140723829	40191431	753	29026										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725574	140725574	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccctctctccgccactgtCacgctcaccgtggccgtggc	9	21	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140725574C>T	ENST00000253812.6	+	1	1974	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCACTGTCACGCTCACCG	0.692																																																	0													9	13	12					5																	140725574		2083	4151	6234	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1974C>T	5.37:g.140725574C>T			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V658	ENST00000253812.6	37	c.1974	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140725574	1	no_errors	ENST00000253812	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140725574	C	T	140725574	2	4	160	1	0	0	0	0	0	0	0	1	11579	813	29	1		1	PCDHGA3	5	140725574	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1745	140725574	40189686	754	29027										
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725995	140725995	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgataactcaggatttacttGaaatgaaaggagattccaac	8	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140725995G>C	ENST00000253812.6	+	1	2395	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	799					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTTACTTGAAATGAAAGG	0.398																																																	0													64	71	68					5																	140725995		2201	4300	6501	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2395G>C	5.37:g.140725995G>C	ENSP00000253812:p.Glu799Gln		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E799Q	ENST00000253812.6	37	c.2395	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	5.487	0.274800	0.10403	.	.	ENSG00000254245	ENST00000253812	T	0.46819	0.86	5.24	5.24	0.73138	.	.	.	.	.	T	0.40272	0.1110	L	0.54323	1.7	0.09310	N	1	B;B	0.16802	0.009;0.019	B;B	0.18561	0.022;0.009	T	0.26155	-1.0111	9	0.14252	T	0.57	.	8.9552	0.35814	0.0787:0.0:0.771:0.1503	.	799;799	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	799	ENSP00000253812:E799Q	ENSP00000253812:E799Q	E	+	1	0	PCDHGA3	140706179	0.000000	0.05858	0.084000	0.20598	0.035000	0.12851	0.157000	0.16402	2.598000	0.87819	0.563000	0.77884	GAA	PCDHGA3	-	NULL		0.398	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140725995	1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	0.006	C	C	140725995	G	C	140725995	3	2	160	1	0	0	0	0	1	0	0	0	11579	1291	45	1	2397	1	PCDHGA3	5	140725995	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	421	140725995	40189265	755	29028										
PCDHGA6	56109	genome.wustl.edu	37	chr5	140754711	140754711	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttgttacatctggaagcaGaacaattgctgaaagtgcac	11	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140754711G>A	ENST00000517434.1	+	1	1061	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	354	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAAGCAGAACAATTGCT	0.483																																																	0													116	121	119					5																	140754711		1941	4141	6082	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1061G>A	5.37:g.140754711G>A	ENSP00000429601:p.Arg354Lys		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R354K	ENST00000517434.1	37	c.1061	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	12.60	1.986284	0.35036	.	.	ENSG00000253731	ENST00000517434	T	0.58940	0.3	5.25	4.38	0.52667	Cadherin (1);Cadherin-like (1);	0.209894	0.22606	U	0.057881	T	0.42108	0.1188	N	0.13098	0.295	0.09310	N	1	B;B	0.25272	0.003;0.122	B;B	0.32393	0.012;0.145	T	0.42949	-0.9421	10	0.62326	D	0.03	.	9.9204	0.41462	0.0729:0.1384:0.7887:0.0	.	354;354	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	354	ENSP00000429601:R354K	ENSP00000429601:R354K	R	+	2	0	PCDHGA6	140734895	0.000000	0.05858	0.954000	0.39281	0.992000	0.81027	-0.303000	0.08210	1.578000	0.49821	0.655000	0.94253	AGA	PCDHGA6	-	superfamily_Cadherin-like		0.483	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	G	NM_018919		140754711	1	no_errors	ENST00000517434	ensembl	human	known	70_37	missense	SNP	0.066	A	A	140754711	G	A	140754711	3	1	160	1	0	0	0	0	1	0	0	0	11582	942	33	1	1063	1	PCDHGA6	5	140754711	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	28716	140754711	40160549	756	29029										
PCDHGA8	9708	genome.wustl.edu	37	chr5	140773110	140773110	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaatgccccggtttttcctCacccgatttaccgagtgaaa	7	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140773110C>T	ENST00000398604.2	+	1	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	244	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTTTCCTCACCCGATTTA	0.572																																																	0													78	84	82					5																	140773110		2061	4224	6285	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.730C>T	5.37:g.140773110C>T	ENSP00000381605:p.His244Tyr		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H244Y	ENST00000398604.2	37	c.730	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018599	0.19355	.	.	ENSG00000253767	ENST00000398604	T	0.60797	0.16	5.41	4.53	0.55603	Cadherin (3);Cadherin-like (1);	0.000000	0.30602	U	0.009262	T	0.55226	0.1907	L	0.55481	1.735	0.21386	N	0.999705	B;B	0.10296	0.001;0.003	B;B	0.11329	0.0;0.006	T	0.54523	-0.8281	10	0.87932	D	0	.	15.7067	0.77588	0.0:0.8625:0.1375:0.0	.	244;244	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	Y	244	ENSP00000381605:H244Y	ENSP00000381605:H244Y	H	+	1	0	PCDHGA8	140753294	0.003000	0.15002	0.768000	0.31515	0.441000	0.31987	0.750000	0.26334	1.271000	0.44313	0.655000	0.94253	CAC	PCDHGA8	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.572	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140773110	1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	0.955	T	T	140773110	C	T	140773110	3	4	160	1	0	0	0	0	1	0	0	0	11584	826	29	1	732	1	PCDHGA8	5	140773110	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	18399	140773110	40142150	757	29030										
PCDHGB6	56100	genome.wustl.edu	37	chr5	140788169	140788169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgaccacgcccctcaatttGataaaaaggaaatacattta	5	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:140788169G>C	ENST00000520790.1	+	1	400	c.400G>C	c.(400-402)Gat>Cat	p.D134H	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	134	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCAATTTGATAAAAAGGA	0.383																																																	0													128	127	127					5																	140788169		1834	4106	5940	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.400G>C	5.37:g.140788169G>C	ENSP00000428603:p.Asp134His		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D134H	ENST00000520790.1	37	c.400	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	8.670	0.902622	0.17760	.	.	ENSG00000253305	ENST00000520790	T	0.20463	2.07	4.96	0.451	0.16629	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.10766	0.0263	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.29088	-1.0023	9	0.40728	T	0.16	.	5.0779	0.14642	0.113:0.4572:0.3123:0.1175	.	134;134	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	134	ENSP00000428603:D134H	ENSP00000428603:D134H	D	+	1	0	PCDHGB6	140768353	0.000000	0.05858	0.986000	0.45419	0.965000	0.64279	-3.139000	0.00587	0.476000	0.27440	0.467000	0.42956	GAT	PCDHGB6	-	superfamily_Cadherin-like,pfscan_Cadherin		0.383	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	G	NM_018926		140788169	1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	0.000	C	C	140788169	G	C	140788169	3	2	160	1	0	0	0	0	1	0	0	0	11591	1290	45	1	402	1	PCDHGB6	5	140788169	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	15059	140788169	40127091	758	29031										
RELL2	285613	genome.wustl.edu	37	chr5	141019656	141019656	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatggagaggctgccccctGagaggccacagccccaggtc	13	16	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:141019656G>A	ENST00000297164.3	+	5	1873	c.673G>A	c.(673-675)Gag>Aag	p.E225K	RELL2_ENST00000444782.1_Missense_Mutation_p.E225K|RELL2_ENST00000521367.1_Missense_Mutation_p.E159K|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.E159K|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	225					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCCCCCTGAGAGGCCACA	0.677																																																	0													26	28	28					5																	141019656		2203	4299	6502	SO:0001583	missense	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.673G>A	5.37:g.141019656G>A	ENSP00000297164:p.Glu225Lys		D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT	p.E225K	ENST00000297164.3	37	c.673	CCDS4265.1	5	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197764	0.38806	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.16897	2.37;2.31;2.37;2.32	5.38	4.43	0.53597	.	0.461226	0.20977	N	0.082293	T	0.14743	0.0356	L	0.36672	1.1	0.09310	N	0.999996	B;B	0.29301	0.241;0.079	B;B	0.29942	0.109;0.037	T	0.14062	-1.0486	10	0.23891	T	0.37	-12.0604	14.029	0.64604	0.0:0.0:0.8387:0.1613	.	159;225	E5RHA7;Q8NC24	.;RELL2_HUMAN	K	225;159;225;159	ENSP00000409443:E225K;ENSP00000430948:E159K;ENSP00000297164:E225K;ENSP00000427992:E159K	ENSP00000297164:E225K	E	+	1	0	RELL2	140999840	0.004000	0.15560	0.992000	0.48379	0.784000	0.44337	1.383000	0.34385	2.529000	0.85273	0.655000	0.94253	GAG	RELL2	-	NULL		0.677	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	G	NM_173828		141019656	1	no_errors	ENST00000297164	ensembl	human	known	70_37	missense	SNP	0.023	A	A	141019656	G	A	141019656	3	1	160	1	0	0	0	0	1	0	0	0	13249	1291	45	1	691	1	RELL2	5	141019656	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	231487	141019656	39895604	759	29032										
DPYSL3	1809	genome.wustl.edu	37	chr5	146792219	146792219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaacttgagcaatggccccCagctctcccaggcaggtgaa	11	13	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:146792219C>T	ENST00000398514.3	-	6	944	c.573G>A	c.(571-573)ctG>ctA	p.L191L	DPYSL3_ENST00000343218.5_Silent_p.L305L|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	191					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGGCCCCCAGCTCTCCCA	0.502																																																	0													59	60	60					5																	146792219		1930	4117	6047	SO:0001819	synonymous_variant	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.573G>A	5.37:g.146792219C>T			B3SXQ8|Q93012	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L191	ENST00000398514.3	37	c.573	CCDS43381.1	5																																																																																			DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.502	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	C	NM_001387		146792219	-1	no_errors	ENST00000398514	ensembl	human	known	70_37	silent	SNP	1.000	T	T	146792219	C	T	146792219	2	4	160	1	0	0	0	0	0	0	0	1	4758	581	21	4		4	DPYSL3	5	146792219	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5772563	146792219	34123041	760	29033										
SPINK5	11005	genome.wustl.edu	37	chr5	147510945	147510945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccttgcatgctctgtcatGaaaacctgtaagtattcaag	7	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:147510945G>A	ENST00000256084.7	+	31	3130	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E1060K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1030	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGTCATGAAAACCTGTA	0.403																																																	0													196	181	186					5																	147510945		1931	4144	6075	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3088G>A	5.37:g.147510945G>A	ENSP00000256084:p.Glu1030Lys		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.E1060K	ENST00000256084.7	37	c.3178	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866518	0.72065	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.75260	-0.92;-0.92	5.06	3.29	0.37713	Proteinase inhibitor I1, Kazal (2);	0.323267	0.29093	N	0.013162	T	0.76919	0.4055	L	0.47078	1.49	0.34151	D	0.667552	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.75637	-0.3249	10	0.11182	T	0.66	-18.2755	8.4495	0.32862	0.1841:0.0:0.8159:0.0	.	1060;1030	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	K	1060;1030	ENSP00000352936:E1060K;ENSP00000256084:E1030K	ENSP00000256084:E1030K	E	+	1	0	SPINK5	147491138	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.145000	0.42207	0.808000	0.34231	-0.140000	0.14226	GAA	SPINK5	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal		0.403	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	G	NM_001127698		147510945	1	no_errors	ENST00000359874	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147510945	G	A	147510945	3	1	160	1	0	0	0	0	1	0	0	0	15092	1291	45	1	3316	1	SPINK5	5	147510945	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	718726	147510945	33404315	761	29034										
PDE6A	5145	genome.wustl.edu	37	chr5	149324192	149324192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtttggcaaagccaatattCgagtccaggaacttctccac	8	11	1	0	rs146811139		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:149324192C>T	ENST00000255266.5	-	1	164	c.45G>A	c.(43-45)tcG>tcA	p.S15S		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	15					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGCCAATATTCGAGTCCAGGA	0.572																																																	0								C		0,4406		0,0,2203	46	40	42		45	-11.4	0	5	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDE6A	NM_000440.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		15/861	149324192	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.45G>A	5.37:g.149324192C>T			Q0P638	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S15	ENST00000255266.5	37	c.45	CCDS4299.1	5																																																																																			PDE6A	-	NULL		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	C			149324192	-1	no_errors	ENST00000255266	ensembl	human	known	70_37	silent	SNP	0.124	T	T	149324192	C	T	149324192	2	4	160	1	0	0	0	0	0	0	0	1	11669	871	31	1		1	PDE6A	5	149324192	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1813247	149324192	31591068	762	29035										
FAT2	2196	genome.wustl.edu	37	chr5	150947811	150947811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgccctcagagattttccGcatgcggtccacagctagca	9	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:150947811G>A	ENST00000261800.5	-	1	694	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGATTTTCCGCATGCGGTCC	0.597																																																	0													50	44	46					5																	150947811		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.682C>T	5.37:g.150947811G>A	ENSP00000261800:p.Arg228Trp		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R228W	ENST00000261800.5	37	c.682	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646340	0.67358	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	5.34	-3.92	0.04155	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000018	T	0.59569	0.2203	L	0.52573	1.65	0.36907	D	0.890728	D	0.89917	1.0	D	0.79784	0.993	T	0.68198	-0.5472	10	0.66056	D	0.02	.	18.9547	0.92654	0.0:0.0:0.2762:0.7238	.	228	Q9NYQ8	FAT2_HUMAN	W	228	ENSP00000261800:R228W	ENSP00000261800:R228W	R	-	1	2	FAT2	150928004	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	1.470000	0.35354	-0.336000	0.08438	0.555000	0.69702	CGG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150947811	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.973	A	A	150947811	G	A	150947811	3	1	160	1	0	0	0	0	1	0	0	0	5708	1086	38	2	12459	2	FAT2	5	150947811	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1623619	150947811	29967449	763	29036										
HAND1	9421	genome.wustl.edu	37	chr5	153857266	153857266	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagtgcgtctccgctccttCttgggtcctgagcctttccg	10	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:153857266C>T	ENST00000231121.2	-	1	558	c.303G>A	c.(301-303)aaG>aaA	p.K101K		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	101	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCCGCTCCTTCTTGGGTCCTG	0.667																																																	0													61	55	57					5																	153857266		2203	4300	6503	SO:0001819	synonymous_variant	9421			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"Basic helix-loop-helix proteins"	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.303G>A	5.37:g.153857266C>T				Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K101	ENST00000231121.2	37	c.303	CCDS4327.1	5																																																																																			HAND1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.667	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND1	HGNC	protein_coding	OTTHUMT00000252511.1	C	NM_004821		153857266	-1	no_errors	ENST00000231121	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153857266	C	T	153857266	2	4	160	1	0	0	0	0	0	0	0	1	6969	912	32	1		1	HAND1	5	153857266	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2909455	153857266	27057994	764	29037										
UBLCP1	134510	genome.wustl.edu	37	chr5	158705280	158705280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttatatggggaaagttttCggagttttacagcaagaaaa	11	3	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:158705280C>T	ENST00000296786.6	+	9	1045	c.719C>T	c.(718-720)tCg>tTg	p.S240L		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	240	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAAGTTTTCGGAGTTTTAC	0.318																																																	0													98	98	98					5																	158705280		2203	4300	6503	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.719C>T	5.37:g.158705280C>T	ENSP00000296786:p.Ser240Leu		D3DQJ7|Q96DK5	Missense_Mutation	SNP	pfam_NIF,pfam_Ubiquitin,superfamily_HAD-like_dom,smart_Ubiquitin,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID	p.S240L	ENST00000296786.6	37	c.719	CCDS4345.1	5	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560019	0.45590	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.44	3.67	0.42095	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (3);HAD-like domain (2);	0.387826	0.28665	N	0.014549	T	0.34658	0.0905	L	0.29908	0.895	0.40553	D	0.98113	P	0.39404	0.672	B	0.27887	0.084	T	0.28202	-1.0051	9	0.72032	D	0.01	-24.5598	10.8716	0.46887	0.0:0.8522:0.0:0.1478	.	240	Q8WVY7	UBCP1_HUMAN	L	240	.	ENSP00000296786:S240L	S	+	2	0	UBLCP1	158637858	0.986000	0.35501	0.855000	0.33649	0.950000	0.60333	2.450000	0.44943	0.774000	0.33427	-0.150000	0.13652	TCG	UBLCP1	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID		0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBLCP1	HGNC	protein_coding	OTTHUMT00000252650.2	C	NM_145049		158705280	1	no_errors	ENST00000296786	ensembl	human	known	70_37	missense	SNP	0.873	T	T	158705280	C	T	158705280	3	4	160	1	0	0	0	0	1	0	0	0	16922	893	31	1	749	1	UBLCP1	5	158705280	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4848014	158705280	22209980	765	29038										
ODZ2	57451	genome.wustl.edu	37	chr5	167553926	167553926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgccgagagggctggaatGgtgaacactgcaccattggt	14	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:167553926G>A	ENST00000518659.1	+	12	2416	c.2377G>A	c.(2377-2379)Ggt>Agt	p.G793S	TENM2_ENST00000519204.1_Missense_Mutation_p.G672S|TENM2_ENST00000403607.2_Missense_Mutation_p.G626S|TENM2_ENST00000545108.1_Missense_Mutation_p.G793S|TENM2_ENST00000520394.1_Missense_Mutation_p.G561S|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	793	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGGCTGGAATGGTGAACACTG	0.532																																																	0													51	63	59					5																	167553926		2029	4187	6216	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2377G>A	5.37:g.167553926G>A	ENSP00000429430:p.Gly793Ser		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G793S	ENST00000518659.1	37	c.2377		5	.	.	.	.	.	.	.	.	.	.	G	34	5.342833	0.95783	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.8	5.8	0.92144	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.70502	-0.4854	10	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	793;793;561	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	793;793;672;561;626	ENSP00000429430:G793S;ENSP00000438635:G793S;ENSP00000428964:G672S;ENSP00000427874:G561S;ENSP00000384905:G626S	ENSP00000384905:G626S	G	+	1	0	ODZ2	167486504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.682000	0.98655	2.735000	0.93741	0.655000	0.94253	GGT	TENM2	-	pfam_EGF_extracell,smart_EG-like_dom		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167553926	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167553926	G	A	167553926	3	1	160	1	0	0	0	0	1	0	0	0	10859	1348	47	4	2423	4	ODZ2	5	167553926	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8848646	167553926	13361334	766	29039										
WWC1	23286	genome.wustl.edu	37	chr5	167851052	167851052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggctggaggaaccaggaacgGagggcaagcagctgggccaa	18	9	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:167851052G>C	ENST00000265293.4	+	11	2291	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	WWC1_ENST00000521089.1_Missense_Mutation_p.E597Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	597					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCAGGAACGGAGGGCAAGCA	0.572																																																	0													39	44	42					5																	167851052		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1789G>C	5.37:g.167851052G>C	ENSP00000265293:p.Glu597Gln		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E597Q	ENST00000265293.4	37	c.1789	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.39|11.39	1.625490|1.625490	0.28889|0.28889	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.25250|.	1.81;1.81|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.772684|.	0.12352|.	N|.	0.476455|.	T|T	0.64080|0.64080	0.2566|0.2566	M|M	0.61703|0.61703	1.905|1.905	0.31192|0.31192	N|N	0.700864|0.700864	B;B;B;B|.	0.28400|.	0.0;0.019;0.21;0.0|.	B;B;B;B|.	0.31101|.	0.003;0.012;0.124;0.001|.	T|T	0.66822|0.66822	-0.5826|-0.5826	10|5	0.35671|.	T|.	0.21|.	.|.	17.8735|17.8735	0.88818|0.88818	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	597;503;503;597|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	Q|A	597|558;373	ENSP00000265293:E597Q;ENSP00000427772:E597Q|.	ENSP00000265293:E597Q|.	E|G	+|+	1|2	0|0	WWC1|WWC1	167783630|167783630	0.651000|0.651000	0.27340|0.27340	0.301000|0.301000	0.25044|0.25044	0.073000|0.073000	0.16967|0.16967	3.663000|3.663000	0.54518|0.54518	2.217000|2.217000	0.71921|0.71921	0.655000|0.655000	0.94253|0.94253	GAG|GGA	WWC1	-	NULL		0.572	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	G	NM_015238		167851052	1	no_errors	ENST00000265293	ensembl	human	known	70_37	missense	SNP	0.557	C	C	167851052	G	C	167851052	3	2	160	1	0	0	0	0	1	0	0	0	17442	1175	41	1	1831	1	WWC1	5	167851052	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	297126	167851052	13064208	767	29040										
SLIT3	6586	genome.wustl.edu	37	chr5	168151429	168151429	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggctccttacataagcgtCaggtgtcggagggcggacag	16	9	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:168151429C>T	ENST00000519560.1	-	21	2750	c.2331G>A	c.(2329-2331)ctG>ctA	p.L777L	SLIT3_ENST00000332966.8_Silent_p.L777L|SLIT3_ENST00000404867.3_Silent_p.L777L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	777					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAAGCGTCAGGTGTCGGA	0.527																																					Ovarian(29;311 847 10864 17279 24903)												0													67	63	64					5																	168151429		2203	4298	6501	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2331G>A	5.37:g.168151429C>T			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L777	ENST00000519560.1	37	c.2331	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp		0.527	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168151429	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	1.000	T	T	168151429	C	T	168151429	2	4	160	1	0	0	0	0	0	0	0	1	14771	813	29	1		1	SLIT3	5	168151429	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	300377	168151429	12763831	768	29041										
DOCK2	1794	genome.wustl.edu	37	chr5	169125422	169125422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggggaaagcagagagtgatGaagaaaagcagcacttcatt	13	5	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169125422G>A	ENST00000256935.8	+	11	1104	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	342					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAGTGATGAAGAAAAGCA	0.413																																																	0													215	197	203					5																	169125422		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1024G>A	5.37:g.169125422G>A	ENSP00000256935:p.Glu342Lys		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.E342K	ENST00000256935.8	37	c.1024	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	37	5.988614	0.97179	.	.	ENSG00000134516	ENST00000256935	T	0.18960	2.18	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.54544	0.755	T	0.02933	-1.1092	10	0.23302	T	0.38	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	342	Q92608	DOCK2_HUMAN	K	342	ENSP00000256935:E342K	ENSP00000256935:E342K	E	+	1	0	DOCK2	169058000	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.336000	0.96533	2.824000	0.97209	0.655000	0.94253	GAA	DOCK2	-	NULL		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169125422	1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	1.000	A	A	169125422	G	A	169125422	3	1	160	1	0	0	0	0	1	0	0	0	4697	1291	45	1	1066	1	DOCK2	5	169125422	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	973993	169125422	11789838	769	29042										
DOCK2	1794	genome.wustl.edu	37	chr5	169506072	169506072	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcctgaggtcaagctgcgGaggtccaagaagaggacaaa	14	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169506072G>C	ENST00000256935.8	+	49	5168	c.5088G>C	c.(5086-5088)cgG>cgC	p.R1696R	DOCK2_ENST00000520908.1_Silent_p.R1188R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.R757R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAAGCTGCGGAGGTCCAAGA	0.572																																																	0													88	88	88					5																	169506072		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5088G>C	5.37:g.169506072G>C			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.R1696	ENST00000256935.8	37	c.5088	CCDS4371.1	5																																																																																			DOCK2	-	NULL		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169506072	1	no_errors	ENST00000256935	ensembl	human	known	70_37	silent	SNP	0.744	C	C	169506072	G	C	169506072	2	2	160	1	0	0	0	0	0	0	0	1	4697	1161	41	1		1	DOCK2	5	169506072	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	380650	169506072	11409188	770	29043										
LCP2	3937	genome.wustl.edu	37	chr5	169697724	169697724	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccggaaacgggcccttaccGatgtacatggagttggagtt	13	9	0	0	rs367557459		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:169697724G>A	ENST00000046794.5	-	7	1137	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	174					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGCCCTTACCGATGTACATGG	0.582																																																	0								G		0,4166		0,0,2083	93	106	101		522	-5.1	0.9	5		101	1,8403		0,1,4201	no	coding-synonymous-near-splice	LCP2	NM_005565.3		0,1,6284	AA,AG,GG		0.0119,0.0,0.0080		174/534	169697724	1,12569	2083	4202	6285	SO:0001630	splice_region_variant	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.523+1C>T	5.37:g.169697724G>A			A8KA25|Q53XV4	Silent	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.I174	ENST00000046794.5	37	c.522	CCDS47339.1	5																																																																																			LCP2	-	NULL		0.582	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	G	NM_005565	Silent	169697724	-1	no_errors	ENST00000046794	ensembl	human	known	70_37	silent	SNP	0.851	A	A	169697724	G	A	169697724	5	1	160	1	0	0	0	0	0	0	1	0	8712	1072	37	1	1139	1	LCP2	5	169697724	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	191652	169697724	11217536	771	29044										
TLX3	30012	genome.wustl.edu	37	chr5	170736771	170736771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggagagcagccgccgcttCgtgaaagaccgcttcacagg	13	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:170736771C>T	ENST00000296921.5	+	1	484	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	134					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGCCGCTTCGTGAAAGACC	0.701			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)			Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	0													15	19	18					5																	170736771		2165	4253	6418	SO:0001819	synonymous_variant	30012			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.402C>T	5.37:g.170736771C>T			Q96AD3	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.F134	ENST00000296921.5	37	c.402	CCDS34288.1	5																																																																																			TLX3	-	NULL		0.701	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TLX3	HGNC	protein_coding	OTTHUMT00000372076.3	C			170736771	1	no_errors	ENST00000296921	ensembl	human	known	70_37	silent	SNP	1.000	T	T	170736771	C	T	170736771	2	4	160	1	0	0	0	0	0	0	0	1	15992	883	31	1		1	TLX3	5	170736771	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1039047	170736771	10178489	772	29045										
THOC3	84321	genome.wustl.edu	37	chr5	175395007	175395007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaggaccccgaggctaggcGacgcccgtcgcaactccagg	14	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:175395007G>T	ENST00000265097.4	-	1	295	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'Flank|THOC3_ENST00000513482.1_Missense_Mutation_p.R69S	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	69					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)		GAGGCTAGGCGACGCCCGTCG	0.677																																																	0													10	12	11					5																	175395007		1940	3878	5818	SO:0001583	missense	84321			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.205C>A	5.37:g.175395007G>T	ENSP00000265097:p.Arg69Ser		Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R69S	ENST00000265097.4	37	c.205	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164482	0.78339	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.60672	0.17;0.17	4.07	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.064549	0.64402	D	0.000008	T	0.61677	0.2366	L	0.45698	1.435	0.80722	D	1	P;P	0.51240	0.943;0.488	P;B	0.54346	0.749;0.373	T	0.57883	-0.7734	10	0.22706	T	0.39	-12.0637	15.4334	0.75121	0.0:0.0:1.0:0.0	.	69;69	Q6NZ53;Q96J01	.;THOC3_HUMAN	S	69	ENSP00000265097:R69S;ENSP00000422243:R69S	ENSP00000265097:R69S	R	-	1	0	THOC3	175327613	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.315000	0.51951	2.085000	0.62840	0.511000	0.50034	CGC	THOC3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.677	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	G			175395007	-1	no_errors	ENST00000265097	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175395007	G	T	175395007	3	4	160	1	0	0	0	0	1	0	0	0	15896	1058	37	3	874	3	THOC3	5	175395007	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4658236	175395007	5520253	773	29046										
HIGD2A	192286	genome.wustl.edu	37	chr5	175816403	175816403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggggcaacagccagcgctctCagctcatgatgcgcacccgg	13	15	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:175816403C>G	ENST00000274787.2	+	2	299	c.226C>G	c.(226-228)Cag>Gag	p.Q76E	NOP16_ENST00000389158.5_5'Flank|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000510123.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	76	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCAGCGCTCTCAGCTCATGAT	0.637																																																	0													66	73	71					5																	175816403		2203	4300	6503	SO:0001583	missense	192286			BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"HIG1 domain family, member 2A"			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.226C>G	5.37:g.175816403C>G	ENSP00000274787:p.Gln76Glu			Missense_Mutation	SNP	pfam_Hypoxia_induced_domain	p.Q76E	ENST00000274787.2	37	c.226	CCDS4401.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.571273	0.96553	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.89	5.89	0.94794	Hypoxia induced protein, domain (2);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	H	0.95679	3.705	0.80722	D	1	D	0.54601	0.967	P	0.51945	0.685	D	0.87567	0.2475	9	0.52906	T	0.07	-16.9141	20.2618	0.98447	0.0:1.0:0.0:0.0	.	76	Q9BW72	HIG2A_HUMAN	E	76	.	ENSP00000274787:Q76E	Q	+	1	0	HIGD2A	175749009	1.000000	0.71417	0.977000	0.42913	0.901000	0.52897	7.437000	0.80417	2.793000	0.96121	0.655000	0.94253	CAG	HIGD2A	-	pfam_Hypoxia_induced_domain		0.637	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIGD2A	HGNC	protein_coding	OTTHUMT00000253147.1	C	NM_138820		175816403	1	no_errors	ENST00000274787	ensembl	human	known	70_37	missense	SNP	1.000	G	G	175816403	C	G	175816403	3	3	160	1	0	0	0	0	1	0	0	0	7129	827	29	1	232	1	HIGD2A	5	175816403	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	421396	175816403	5098857	774	29047										
CDHR2	54825	genome.wustl.edu	37	chr5	176011451	176011451	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggcctgggacgcggaccaGacggaagccaacaaccgcat	13	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176011451G>C	ENST00000510636.1	+	19	2443	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H	CDHR2_ENST00000506348.1_Missense_Mutation_p.Q723H|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q723H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	723	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGCGGACCAGACGGAAGCCA	0.637																																																	0													99	100	100					5																	176011451		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2169G>C	5.37:g.176011451G>C	ENSP00000424565:p.Gln723His		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q723H	ENST00000510636.1	37	c.2169	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182016	0.38511	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.38240	1.15;1.15;1.15	5.12	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56558	0.1993	M	0.70275	2.135	0.50171	D	0.999856	D	0.76494	0.999	D	0.75484	0.986	T	0.59931	-0.7361	9	0.72032	D	0.01	-25.855	11.1527	0.48469	0.1499:0.0:0.8501:0.0	.	723	Q9BYE9	CDHR2_HUMAN	H	723	ENSP00000424565:Q723H;ENSP00000261944:Q723H;ENSP00000421078:Q723H	ENSP00000261944:Q723H	Q	+	3	2	CDHR2	175944057	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	1.922000	0.40045	1.295000	0.44724	0.549000	0.68633	CAG	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	G	NM_017675		176011451	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176011451	G	C	176011451	3	2	160	1	0	0	0	0	1	0	0	0	3124	933	33	1	2239	1	CDHR2	5	176011451	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	195048	176011451	4903809	775	29048										
UNC5A	90249	genome.wustl.edu	37	chr5	176301441	176301441	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accacagctctcccacctctGaggccgaggagttcgtctcc	9	17	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176301441G>A	ENST00000329542.4	+	8	1526	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	UNC5A_ENST00000261961.3_Missense_Mutation_p.E378K	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	418					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCACCTCTGAGGCCGAGGA	0.652																																																	0													90	98	95					5																	176301441		2203	4300	6503	SO:0001583	missense	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1252G>A	5.37:g.176301441G>A	ENSP00000332737:p.Glu418Lys		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E418K	ENST00000329542.4	37	c.1252	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352655	0.61293	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.48201	0.82;1.14	5.34	5.34	0.76211	.	0.175518	0.40064	N	0.001181	T	0.44746	0.1308	L	0.48642	1.525	0.51767	D	0.999935	P;B	0.35821	0.523;0.181	B;B	0.38225	0.268;0.024	T	0.26744	-1.0094	10	0.19147	T	0.46	-11.689	17.2071	0.86921	0.0:0.0:1.0:0.0	.	378;418	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	K	418;378	ENSP00000332737:E418K;ENSP00000261961:E378K	ENSP00000261961:E378K	E	+	1	0	UNC5A	176234047	1.000000	0.71417	0.976000	0.42696	0.648000	0.38561	9.278000	0.95766	2.512000	0.84698	0.484000	0.47621	GAG	UNC5A	-	NULL		0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1	G	XM_030300		176301441	1	no_errors	ENST00000329542	ensembl	human	known	70_37	missense	SNP	1.000	A	A	176301441	G	A	176301441	3	1	160	1	0	0	0	0	1	0	0	0	17022	1291	45	1	1282	1	UNC5A	5	176301441	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	289990	176301441	4613819	776	29049										
NSD1	64324	genome.wustl.edu	37	chr5	176562465	176562465	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttccttgagtcctggtggtCctacagcacttgctatgaaa	9	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176562465C>G	ENST00000439151.2	+	2	406	c.361C>G	c.(361-363)Cct>Gct	p.P121A	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.P121A|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	121					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCTGGTGGTCCTACAGCACT	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													91	91	91					5																	176562465		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.361C>G	5.37:g.176562465C>G	ENSP00000395929:p.Pro121Ala		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P121A	ENST00000439151.2	37	c.361	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592418	0.46214	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93953	-3.16;-3.32	4.88	3.07	0.35406	.	0.300319	0.24156	N	0.041025	D	0.83746	0.5321	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.09377	0.004;0.002;0.004	T	0.76979	-0.2758	10	0.87932	D	0	.	8.0923	0.30807	0.0:0.7506:0.1607:0.0887	.	121;121;121	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	A	121	ENSP00000395929:P121A;ENSP00000354310:P121A	ENSP00000354310:P121A	P	+	1	0	NSD1	176495071	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.436000	0.34980	0.639000	0.30564	0.555000	0.69702	CCT	NSD1	-	NULL		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176562465	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	G	G	176562465	C	G	176562465	3	3	160	1	0	0	0	0	1	0	0	0	10693	855	30	1	363	1	NSD1	5	176562465	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	261024	176562465	4352795	777	29050										
PDLIM7	9260	genome.wustl.edu	37	chr5	176917893	176917893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgatttcttcaggtgctcctCatccgggtcttgcactgaga	10	11	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176917893C>T	ENST00000355841.2	-	7	616	c.550G>A	c.(550-552)Gag>Aag	p.E184K	PDLIM7_ENST00000393551.1_Missense_Mutation_p.E184K|PDLIM7_ENST00000356618.4_Missense_Mutation_p.E184K|PDLIM7_ENST00000359895.2_Missense_Mutation_p.E150K|PDLIM7_ENST00000355572.2_Missense_Mutation_p.E184K	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	184					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGCTCCTCATCCGGGTCT	0.602																																																	0													59	59	59					5																	176917893		2203	4300	6503	SO:0001583	missense	9260			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.550G>A	5.37:g.176917893C>T	ENSP00000348099:p.Glu184Lys		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E184K	ENST00000355841.2	37	c.550	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145205	0.57044	.	.	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572	T;T;T;T;T;T	0.50001	0.88;2.26;0.76;2.26;2.22;2.28	3.56	3.56	0.40772	.	0.228496	0.25369	U	0.031180	T	0.51278	0.1665	L	0.58101	1.795	0.40484	D	0.980479	B;P;B;B	0.48911	0.087;0.917;0.029;0.005	B;P;B;B	0.48598	0.037;0.583;0.01;0.008	T	0.54091	-0.8345	10	0.30854	T	0.27	.	15.2991	0.73933	0.0:1.0:0.0:0.0	.	184;184;184;150	Q9NR12-6;Q9NR12-4;Q9NR12;Q9NR12-2	.;.;PDLI7_HUMAN;.	K	150;184;184;184;184;184	ENSP00000352964:E150K;ENSP00000349030:E184K;ENSP00000348099:E184K;ENSP00000377182:E184K;ENSP00000426213:E184K;ENSP00000347776:E184K	ENSP00000347776:E184K	E	-	1	0	PDLIM7	176850499	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.174000	0.65015	1.990000	0.58119	0.467000	0.42956	GAG	PDLIM7	-	NULL		0.602	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	C	NM_005451		176917893	-1	no_errors	ENST00000355841	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176917893	C	T	176917893	3	4	160	1	0	0	0	0	1	0	0	0	11708	835	29	1	952	1	PDLIM7	5	176917893	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	355428	176917893	3997367	778	29051										
PDLIM7	9260	genome.wustl.edu	37	chr5	176918017	176918017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggctggcacttactgaactCggtgcctgtgaggtgggcaa	16	9	0	2	rs376862538		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:176918017C>T	ENST00000355841.2	-	6	595	c.529G>A	c.(529-531)Gag>Aag	p.E177K	PDLIM7_ENST00000393551.1_Missense_Mutation_p.E177K|PDLIM7_ENST00000356618.4_Missense_Mutation_p.E177K|PDLIM7_ENST00000359895.2_Missense_Mutation_p.E143K|PDLIM7_ENST00000355572.2_Missense_Mutation_p.E177K	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	177					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACTGAACTCGGTGCCTGTG	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		15930	0		0	False		,,,				2504	0																0								C	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	28	31	30		529,427,529	4.3	1	5		30	0,8600		0,0,4300	no	missense,missense,missense	PDLIM7	NM_005451.3,NM_203352.1,NM_213636.1	56,56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	177/458,143/424,177/223	176918017	2,13004	2203	4300	6503	SO:0001583	missense	9260			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.529G>A	5.37:g.176918017C>T	ENSP00000348099:p.Glu177Lys		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E177K	ENST00000355841.2	37	c.529	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.105022	0.94245	4.54E-4	0.0	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572;ENST00000393546	T;T;T;T;T;T;T	0.55760	0.73;1.77;0.5;1.77;1.95;2.04;1.87	4.34	4.34	0.51931	.	0.461581	0.16119	N	0.228732	T	0.72755	0.3500	M	0.73598	2.24	0.47009	D	0.999281	P;D;P;P	0.89917	0.775;1.0;0.894;0.625	P;D;B;B	0.73380	0.472;0.98;0.296;0.088	T	0.76686	-0.2868	10	0.72032	D	0.01	.	16.8686	0.86035	0.0:1.0:0.0:0.0	.	177;177;177;143	Q9NR12-6;Q9NR12-4;Q9NR12;Q9NR12-2	.;.;PDLI7_HUMAN;.	K	143;177;177;177;177;177;194	ENSP00000352964:E143K;ENSP00000349030:E177K;ENSP00000348099:E177K;ENSP00000377182:E177K;ENSP00000426213:E177K;ENSP00000347776:E177K;ENSP00000377177:E194K	ENSP00000347776:E177K	E	-	1	0	PDLIM7	176850623	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.301000	0.78850	1.972000	0.57404	0.467000	0.42956	GAG	PDLIM7	-	NULL		0.642	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	C	NM_005451		176918017	-1	no_errors	ENST00000355841	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176918017	C	T	176918017	3	4	160	1	0	0	0	0	1	0	0	0	11708	893	31	1	977	1	PDLIM7	5	176918017	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	124	176918017	3997243	779	29052										
CANX	821	genome.wustl.edu	37	chr5	179149866	179149866	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaagatctggaacctttcaGaatgactccttttagtgcta	8	8	2	4	rs149513016	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:179149866G>A	ENST00000247461.4	+	11	1444	c.1244G>A	c.(1243-1245)aGa>aAa	p.R415K	CANX_ENST00000452673.2_Missense_Mutation_p.R415K|CANX_ENST00000504734.1_Missense_Mutation_p.R415K|CANX_ENST00000415618.2_Missense_Mutation_p.R450K|CANX_ENST00000512607.2_Missense_Mutation_p.R307K	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	415					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GAACCTTTCAGAATGACTCCT	0.348																																																	0													108	111	110					5																	179149866		2203	4300	6503	SO:0001583	missense	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1244G>A	5.37:g.179149866G>A	ENSP00000247461:p.Arg415Lys		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.R450K	ENST00000247461.4	37	c.1349	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291360	0.05568	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.64	-4.8	0.03190	Concanavalin A-like lectin/glucanase (1);	0.411149	0.26193	N	0.025794	T	0.20088	0.0483	N	0.10916	0.065	0.20926	N	0.999822	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.33266	-0.9875	10	0.02654	T	1	-5.5875	14.4475	0.67361	0.4492:0.0:0.5508:0.0	.	450;415	B4DGP8;P27824	.;CALX_HUMAN	K	415;450;415;415;307	ENSP00000424063:R415K;ENSP00000394817:R450K;ENSP00000391646:R415K;ENSP00000247461:R415K;ENSP00000423588:R307K	ENSP00000247461:R415K	R	+	2	0	CANX	179082472	0.733000	0.28132	0.640000	0.29408	0.628000	0.37860	0.255000	0.18333	-0.778000	0.04566	-0.355000	0.07637	AGA	CANX	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf		0.348	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649		179149866	1	no_errors	ENST00000415618	ensembl	human	known	70_37	missense	SNP	0.317	A	A	179149866	G	A	179149866	3	1	160	1	0	0	0	0	1	0	0	0	2623	942	33	1	1282	1	CANX	5	179149866	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2231849	179149866	1765394	780	29053										
MAPK9	5601	genome.wustl.edu	37	chr5	179696336	179696336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgataagctctctttgcatGagtttggttctgaaaaggac	10	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:179696336G>A	ENST00000452135.2	-	3	494	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.H66Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H66Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.H66Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H66Y|MAPK9_ENST00000539014.1_Missense_Mutation_p.H66Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.H66Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTTGCATGAGTTTGGTTC	0.343																																																	0													123	111	115					5																	179696336		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.196C>T	5.37:g.179696336G>A	ENSP00000394560:p.His66Tyr		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.H66Y	ENST00000452135.2	37	c.196	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696137	0.68386	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.81	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	N	0.11364	0.135	0.80722	D	1	B;P;B;B;P	0.51147	0.055;0.942;0.073;0.277;0.806	B;P;B;B;P	0.52309	0.092;0.695;0.151;0.288;0.565	T	0.51387	-0.8712	9	.	.	.	-28.6978	15.3013	0.73955	0.068:0.0:0.932:0.0	.	66;66;66;66;66	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	66	ENSP00000394560:H66Y;ENSP00000377028:H66Y;ENSP00000389338:H66Y;ENSP00000345524:H66Y;ENSP00000321410:H66Y;ENSP00000397422:H66Y;ENSP00000443149:H66Y;ENSP00000430608:H66Y	.	H	-	1	0	MAPK9	179628942	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.881000	0.87252	2.746000	0.94184	0.591000	0.81541	CAT	MAPK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.343	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179696336	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179696336	G	A	179696336	3	1	160	1	0	0	0	0	1	0	0	0	9310	1290	45	1	1240	1	MAPK9	5	179696336	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	546470	179696336	1218924	781	29054										
FLT4	2324	genome.wustl.edu	37	chr5	180043928	180043928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagccaggaactccatccctCtggccacctggaagctgtag	10	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:180043928C>G	ENST00000261937.6	-	22	3146	c.3068G>C	c.(3067-3069)aGa>aCa	p.R1023T	FLT4_ENST00000393347.3_Missense_Mutation_p.R1023T|FLT4_ENST00000502649.1_Missense_Mutation_p.R1023T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1023	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCATCCCTCTGGCCACCTG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0													102	97	98					5																	180043928		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3068G>C	5.37:g.180043928C>G	ENSP00000261937:p.Arg1023Thr		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R1023T	ENST00000261937.6	37	c.3068	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075805	0.76415	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.04	3.15	0.36227	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85159	0.5633	L	0.33792	1.035	0.58432	D	0.999999	P;P	0.49559	0.875;0.925	P;D	0.64410	0.833;0.925	D	0.86231	0.1637	9	0.87932	D	0	.	13.5017	0.61459	0.1571:0.8429:0.0:0.0	.	1023;1023	E9PD35;P35916	.;VGFR3_HUMAN	T	1023;1023;1023;61	ENSP00000261937:R1023T;ENSP00000377016:R1023T;ENSP00000426057:R1023T;ENSP00000421535:R61T	ENSP00000261937:R1023T	R	-	2	0	FLT4	179976534	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.754000	0.62191	1.023000	0.39654	0.561000	0.74099	AGA	FLT4	-	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,pfscan_Prot_kinase_cat_dom		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180043928	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	1.000	G	G	180043928	C	G	180043928	3	3	160	1	0	0	0	0	1	0	0	0	5962	913	32	1	1067	1	FLT4	5	180043928	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	347592	180043928	871332	782	29055										
FLT4	2324	genome.wustl.edu	37	chr5	180043956	180043956	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggaagctgtagcagacaaGatcttccatggtcagcgggc	13	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr5:180043956G>A	ENST00000261937.6	-	22	3118	c.3040C>T	c.(3040-3042)Ctt>Ttt	p.L1014F	FLT4_ENST00000393347.3_Missense_Mutation_p.L1014F|FLT4_ENST00000502649.1_Missense_Mutation_p.L1014F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCAGACAAGATCTTCCATG	0.627																																					Colon(97;1075 1466 27033 27547 35871)												0													91	82	85					5																	180043956		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3040C>T	5.37:g.180043956G>A	ENSP00000261937:p.Leu1014Phe		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L1014F	ENST00000261937.6	37	c.3040	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794786	0.70452	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.15	4.15	0.48705	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.92854	0.7727	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93805	0.7104	9	0.87932	D	0	.	16.983	0.86333	0.0:0.0:1.0:0.0	.	1014;1014	E9PD35;P35916	.;VGFR3_HUMAN	F	1014;1014;1014;52	ENSP00000261937:L1014F;ENSP00000377016:L1014F;ENSP00000426057:L1014F;ENSP00000421535:L52F	ENSP00000261937:L1014F	L	-	1	0	FLT4	179976562	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.203000	0.65174	2.330000	0.79161	0.561000	0.74099	CTT	FLT4	-	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,pfscan_Prot_kinase_cat_dom		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	G			180043956	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	1.000	A	A	180043956	G	A	180043956	3	1	160	1	0	0	0	0	1	0	0	0	5962	942	33	1	1095	1	FLT4	5	180043956	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	28	180043956	871304	783	29056										
WRNIP1	56897	genome.wustl.edu	37	chr6	2770431	2770431	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaaacccttccttccaggtCaacgctgctcttctgagccg	8	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:2770431C>G	ENST00000380773.4	+	3	1301	c.1092C>G	c.(1090-1092)gtC>gtG	p.V364V	WRNIP1_ENST00000380771.4_Silent_p.V339V|WRNIP1_ENST00000380769.4_Silent_p.V144V|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCTTCCAGGTCAACGCTGCTC	0.493																																																	0													147	123	131					6																	2770431		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1092C>G	6.37:g.2770431C>G				Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.V364	ENST00000380773.4	37	c.1092	CCDS4475.1	6																																																																																			WRNIP1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.493	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2770431	1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	1.000	G	G	2770431	C	G	2770431	2	3	160	1	0	0	0	0	0	0	0	1	17434	813	29	1		1	WRNIP1	6	2770431	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		2770431	168344636	784	29057										
RIPK1	8737	genome.wustl.edu	37	chr6	3081215	3081215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taatatcacttgttttagatGagtactccgctttctgtaaa	6	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:3081215G>C	ENST00000259808.4	+	4	622	c.324G>C	c.(322-324)atG>atC	p.M108I	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.M108I|RIPK1_ENST00000541791.1_Intron			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGTTTTAGATGAGTACTCCGC	0.403																																																	0													88	84	85					6																	3081215		2203	4300	6503	SO:0001583	missense	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.324G>C	6.37:g.3081215G>C	ENSP00000259808:p.Met108Ile		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M108I	ENST00000259808.4	37	c.324	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	1.739	-0.492179	0.04322	.	.	ENSG00000137275	ENST00000259808;ENST00000380409	T;T	0.64618	-0.11;-0.11	5.64	2.78	0.32641	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.850395	0.11075	N	0.602463	T	0.13628	0.0330	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21861	-1.0233	10	0.19147	T	0.46	-0.5938	2.6524	0.05003	0.1309:0.5397:0.1293:0.2001	.	108	Q13546	RIPK1_HUMAN	I	108	ENSP00000259808:M108I;ENSP00000369773:M108I	ENSP00000259808:M108I	M	+	3	0	RIPK1	3026214	0.000000	0.05858	0.091000	0.20842	0.105000	0.19272	0.131000	0.15870	0.697000	0.31718	-0.165000	0.13383	ATG	RIPK1	-	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,pfscan_Prot_kinase_cat_dom		0.403	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	G	NM_003804		3081215	1	no_errors	ENST00000259808	ensembl	human	known	70_37	missense	SNP	0.002	C	C	3081215	G	C	3081215	3	2	160	1	0	0	0	0	1	0	0	0	13410	1290	45	1	334	1	RIPK1	6	3081215	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	310784	3081215	168033852	785	29058										
RREB1	6239	genome.wustl.edu	37	chr6	7189489	7189489	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgccacatgctggtgcactCtggcgagaggccttacaagt	12	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:7189489C>G	ENST00000349384.6	+	6	673	c.359C>G	c.(358-360)tCt>tGt	p.S120C	RREB1_ENST00000379938.2_Missense_Mutation_p.S120C|RREB1_ENST00000379933.3_Missense_Mutation_p.S120C|RREB1_ENST00000334984.6_Missense_Mutation_p.S120C|Y_RNA_ENST00000364613.1_RNA	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	120					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGGTGCACTCTGGCGAGAGG	0.597																																																	0													70	52	58					6																	7189489		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.359C>G	6.37:g.7189489C>G	ENSP00000305560:p.Ser120Cys		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S120C	ENST00000349384.6	37	c.359	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622578	0.87460	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.65	5.65	0.86999	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000022	T	0.45677	0.1354	M	0.80028	2.48	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.48502	-0.9030	10	0.87932	D	0	-28.8691	19.7284	0.96174	0.0:1.0:0.0:0.0	.	120;120;120	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	C	120	ENSP00000369265:S120C;ENSP00000420519:S120C;ENSP00000369270:S120C;ENSP00000420299:S120C;ENSP00000305560:S120C;ENSP00000335574:S120C;ENSP00000419511:S120C	ENSP00000335574:S120C	S	+	2	0	RREB1	7134488	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	5.766000	0.68843	2.668000	0.90789	0.591000	0.81541	TCT	RREB1	-	pfscan_Znf_C2H2		0.597	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	C			7189489	1	no_errors	ENST00000379938	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7189489	C	G	7189489	3	3	160	1	0	0	0	0	1	0	0	0	13709	913	32	1	369	1	RREB1	6	7189489	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4108274	7189489	163925578	786	29059										
GCNT2	2651	genome.wustl.edu	37	chr6	10529685	10529685	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaagaccttgtggcctctGaagttccctggaagtatgtc	12	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:10529685G>A	ENST00000379597.3	+	1	1097	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.E181K			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	181					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGTGGCCTCTGAAGTTCCCTG	0.498																																																	0													39	41	41					6																	10529685		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.541G>A	6.37:g.10529685G>A	ENSP00000368917:p.Glu181Lys			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.E181K	ENST00000379597.3	37	c.541	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.734341	0.00687	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.11495	2.77;2.77	5.47	0.163	0.14986	.	0.721686	0.13341	N	0.395129	T	0.00906	0.0030	N	0.04508	-0.205	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.47100	-0.9143	10	0.02654	T	1	-22.9835	7.8151	0.29254	0.1445:0.3685:0.487:0.0	.	181;180	Q8N0V5;Q08M29	GNT2A_HUMAN;.	K	181	ENSP00000419411:E181K;ENSP00000368917:E181K	ENSP00000368917:E181K	E	+	1	0	GCNT2	10637671	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.827000	0.04424	-0.286000	0.09076	-0.304000	0.09214	GAA	GCNT2	-	pfam_Glyco_trans_14		0.498	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	G	NM_145649		10529685	1	no_errors	ENST00000379597	ensembl	human	known	70_37	missense	SNP	0.000	A	A	10529685	G	A	10529685	3	1	160	1	0	0	0	0	1	0	0	0	6320	1291	45	1	543	1	GCNT2	6	10529685	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3340196	10529685	160585382	787	29060										
JARID2	3720	genome.wustl.edu	37	chr6	15507417	15507417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactgccacgtggcagtgcaCtgcggcaaggtggacaccaa	14	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:15507417C>G	ENST00000341776.2	+	10	2836	c.2592C>G	c.(2590-2592)caC>caG	p.H864Q	JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Missense_Mutation_p.H692Q|JARID2_ENST00000541660.1_Missense_Mutation_p.H826Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	864					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGCAGTGCACTGCGGCAAGG	0.562																																																	0													73	69	70					6																	15507417		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2592C>G	6.37:g.15507417C>G	ENSP00000341280:p.His864Gln		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.H864Q	ENST00000341776.2	37	c.2592	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628320	0.67015	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89343	-1.82;-1.82;-2.5	5.37	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	M	0.78456	2.415	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.92566	0.6062	10	0.87932	D	0	-16.003	9.7431	0.40431	0.0:0.84:0.0:0.16	.	826;864	F5H590;Q92833	.;JARD2_HUMAN	Q	864;692;826	ENSP00000341280:H864Q;ENSP00000380478:H692Q;ENSP00000444623:H826Q	ENSP00000341280:H864Q	H	+	3	2	JARID2	15615396	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.341000	0.33907	2.513000	0.84729	0.591000	0.81541	CAC	JARID2	-	NULL		0.562	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	C	NM_004973		15507417	1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15507417	C	G	15507417	3	3	160	1	0	0	0	0	1	0	0	0	7965	564	20	4	2630	4	JARID2	6	15507417	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4977732	15507417	155607650	788	29061										
ATXN1	6310	genome.wustl.edu	37	chr6	16328526	16328526	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggcattcgttgctccgctCttggttggatttcatttttc	9	10	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:16328526C>G	ENST00000244769.4	-	8	952	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.E6Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	6					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTGCTCCGCTCTTGGTTGGAT	0.567																																																	0													36	35	35					6																	16328526		2197	4284	6481	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.16G>C	6.37:g.16328526C>G	ENSP00000244769:p.Glu6Gln		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E6Q	ENST00000244769.4	37	c.16	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965807	0.92855	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.49432	0.78;0.78	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68918	-0.5282	10	0.87932	D	0	-30.3435	18.7977	0.92001	0.0:1.0:0.0:0.0	.	6	P54253	ATX1_HUMAN	Q	6	ENSP00000244769:E6Q;ENSP00000416360:E6Q	ENSP00000244769:E6Q	E	-	1	0	ATXN1	16436505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.666000	0.90696	0.561000	0.74099	GAG	ATXN1	-	NULL		0.567	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16328526	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16328526	C	G	16328526	3	3	160	1	0	0	0	0	1	0	0	0	1210	922	32	1	2439	1	ATXN1	6	16328526	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	821109	16328526	154786541	789	29062										
NUP153	9972	genome.wustl.edu	37	chr6	17669684	17669684	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaagggcttgacatcttctCtaaagactgcaatattcgcc	7	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:17669684C>G	ENST00000262077.2	-	6	945	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	NUP153_ENST00000537253.1_Missense_Mutation_p.E316Q	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	316					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GACATCTTCTCTAAAGACTGC	0.348																																																	0													79	81	80					6																	17669684		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.946G>C	6.37:g.17669684C>G	ENSP00000262077:p.Glu316Gln		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E316Q	ENST00000262077.2	37	c.946	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.155791	0.94686	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.54479	0.57;0.57	5.64	5.64	0.86602	Nucleoporin, Nup153-like (1);	0.000000	0.51477	D	0.000083	T	0.71921	0.3397	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.74819	-0.3535	10	0.72032	D	0.01	-15.8855	19.7093	0.96085	0.0:1.0:0.0:0.0	.	316;338;316	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Q	316;338;316	ENSP00000262077:E316Q;ENSP00000444029:E316Q	ENSP00000262077:E316Q	E	-	1	0	NUP153	17777663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.203000	0.77864	2.660000	0.90430	0.563000	0.77884	GAG	NUP153	-	pfam_Nucleoporin_Nup153		0.348	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	C			17669684	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17669684	C	G	17669684	3	3	160	1	0	0	0	0	1	0	0	0	10779	922	32	1	3549	1	NUP153	6	17669684	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1341158	17669684	153445383	790	29063										
E2F3	1871	genome.wustl.edu	37	chr6	20480168	20480168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaaggaagagctgcactacGaagtccagatagtccaaaaa	9	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:20480168G>A	ENST00000346618.3	+	2	551	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	E2F3_ENST00000535432.1_Missense_Mutation_p.R37Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	162					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCTGCACTACGAAGTCCAGAT	0.453																																																	0													57	53	54					6																	20480168		2203	4300	6503	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.485G>A	6.37:g.20480168G>A	ENSP00000262904:p.Arg162Gln		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.R162Q	ENST00000346618.3	37	c.485	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792826	0.70452	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.06933	3.24;3.26	6.16	6.16	0.99307	.	0.128702	0.56097	D	0.000026	T	0.01695	0.0054	N	0.19112	0.55	0.36715	D	0.880888	D;B	0.54047	0.964;0.397	B;B	0.30716	0.119;0.022	T	0.57087	-0.7871	10	0.15066	T	0.55	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	162;37	O00716;Q68DT0	E2F3_HUMAN;.	Q	47;162;37	ENSP00000262904:R162Q;ENSP00000443418:R37Q	ENSP00000262904:R162Q	R	+	2	0	E2F3	20588147	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.603000	0.61105	2.937000	0.99478	0.650000	0.86243	CGA	E2F3	-	NULL		0.453	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	G			20480168	1	no_errors	ENST00000346618	ensembl	human	known	70_37	missense	SNP	0.993	A	A	20480168	G	A	20480168	3	1	160	1	0	0	0	0	1	0	0	0	4878	1058	37	1	491	1	E2F3	6	20480168	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2810484	20480168	150634899	791	29064										
HIST1H4F	8361	genome.wustl.edu	37	chr6	26240726	26240726	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccatcgcaaagtgctgcgtGacaacatacagggcatcacg	11	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26240726G>C	ENST00000377745.2	+	1	166	c.73G>C	c.(73-75)Gac>Cac	p.D25H		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	25					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGTGCTGCGTGACAACATACA	0.557																																																	0													51	49	50					6																	26240726		2203	4300	6503	SO:0001583	missense	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.73G>C	6.37:g.26240726G>C	ENSP00000366974:p.Asp25His		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.D25H	ENST00000377745.2	37	c.73	CCDS4598.1	6	.	.	.	.	.	.	.	.	.	.	.	18.23	3.577730	0.65878	.	.	ENSG00000198327	ENST00000377745	.	.	.	4.69	4.69	0.59074	.	0.050814	0.85682	D	0.000000	T	0.71962	0.3402	.	.	.	0.46317	D	0.998986	.	.	.	.	.	.	T	0.75878	-0.3162	6	0.87932	D	0	.	17.1533	0.86783	0.0:0.0:1.0:0.0	.	.	.	.	H	25	.	ENSP00000366974:D25H	D	+	1	0	HIST1H4F	26348705	1.000000	0.71417	0.990000	0.47175	0.011000	0.07611	9.222000	0.95196	2.614000	0.88457	0.655000	0.94253	GAC	HIST1H4F	-	superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4		0.557	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	G	NM_003540		26240726	1	no_errors	ENST00000377745	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26240726	G	C	26240726	3	2	160	1	0	0	0	0	1	0	0	0	7190	1290	45	1	75	1	HIST1H4F	6	26240726	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5760558	26240726	144874341	792	29065										
HIST1H4G	8369	genome.wustl.edu	37	chr6	26247124	26247124	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtgcacttggtaatgccctGaatattatcgctcagtacct	8	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26247124G>C	ENST00000244537.4	-	1	135	c.82C>G	c.(82-84)Cag>Gag	p.Q28E		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	28						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GTAATGCCCTGAATATTATCG	0.552																																																	0													55	51	52					6																	26247124		2203	4300	6503	SO:0001583	missense	8369			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.82C>G	6.37:g.26247124G>C	ENSP00000244537:p.Gln28Glu			Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	p.Q28E	ENST00000244537.4	37	c.82	CCDS4599.1	6	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608304	0.28623	.	.	ENSG00000124578	ENST00000244537	T	0.67865	-0.29	3.07	3.07	0.35406	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.56077	0.1961	.	.	.	0.37861	D	0.929723	P	0.36354	0.549	B	0.42214	0.38	T	0.66126	-0.6001	8	0.66056	D	0.02	.	14.0978	0.65034	0.0:0.0:1.0:0.0	.	28	Q99525	H4G_HUMAN	E	28	ENSP00000244537:Q28E	ENSP00000244537:Q28E	Q	-	1	0	HIST1H4G	26355103	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	8.737000	0.91562	1.704000	0.51252	0.134000	0.15878	CAG	HIST1H4G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4		0.552	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4G	HGNC	protein_coding	OTTHUMT00000040107.1	G	NM_003547		26247124	-1	no_errors	ENST00000244537	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26247124	G	C	26247124	3	2	160	1	0	0	0	0	1	0	0	0	7191	1299	45	1	218	1	HIST1H4G	6	26247124	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6398	26247124	144867943	793	29066										
BTN3A2	11118	genome.wustl.edu	37	chr6	26373523	26373523	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagagcctccaggaggaactCagtaagttaccattccccca	9	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26373523C>T	ENST00000356386.2	+	7	1124	c.936C>T	c.(934-936)ctC>ctT	p.L312L	BTN3A2_ENST00000508906.2_Splice_Site_p.L270L|BTN3A2_ENST00000377708.2_Splice_Site_p.L312L|BTN3A2_ENST00000396934.3_Splice_Site_p.L289L|BTN3A2_ENST00000527422.1_Splice_Site_p.L312L|BTN3A2_ENST00000396948.1_Splice_Site_p.L312L	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	312					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGGAGGAACTCAGTAAGTTAC	0.408																																																	0													158	145	149					6																	26373523		2203	4300	6503	SO:0001630	splice_region_variant	11118			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.937+1C>T	6.37:g.26373523C>T			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L312	ENST00000356386.2	37	c.936	CCDS4605.1	6																																																																																			BTN3A2	-	NULL		0.408	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	C		Silent	26373523	1	no_errors	ENST00000356386	ensembl	human	known	70_37	silent	SNP	0.958	T	T	26373523	C	T	26373523	5	4	160	1	0	0	0	0	0	0	1	0	1566	840	29	1	954	1	BTN3A2	6	26373523	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	126399	26373523	144741544	794	29067										
BTN3A3	10384	genome.wustl.edu	37	chr6	26444434	26444434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagggaaggctgctctccGaatacacaacgtcacagcct	10	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:26444434G>A	ENST00000244519.2	+	4	578	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	BTN3A3_ENST00000361232.3_Missense_Mutation_p.R70Q|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R70Q	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	112	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTGCTCTCCGAATACACAAC	0.507																																																	0													40	41	40					6																	26444434		2203	4297	6500	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.335G>A	6.37:g.26444434G>A	ENSP00000244519:p.Arg112Gln		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.R112Q	ENST00000244519.2	37	c.335	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893067	0.72524	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	2.5	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54367	0.1854	L	0.45422	1.42	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40664	-0.9551	9	0.33141	T	0.24	.	8.4897	0.33093	0.0:0.0:0.7666:0.2333	.	70;112	E9PCP5;O00478	.;BT3A3_HUMAN	Q	112;94;112;70;70;70;70;112;70;70;70	ENSP00000417234:R112Q;ENSP00000419312:R94Q;ENSP00000244519:R112Q;ENSP00000344968:R70Q;ENSP00000417717:R70Q;ENSP00000355238:R70Q;ENSP00000420339:R70Q;ENSP00000420147:R112Q;ENSP00000419736:R70Q;ENSP00000419445:R70Q	ENSP00000244519:R112Q	R	+	2	0	BTN3A3	26552413	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-0.010000	0.12743	0.583000	0.29574	0.555000	0.69702	CGA	BTN3A3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.507	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	G	NM_006994		26444434	1	no_errors	ENST00000244519	ensembl	human	known	70_37	missense	SNP	0.001	A	A	26444434	G	A	26444434	3	1	160	1	0	0	0	0	1	0	0	0	1567	1058	37	1	341	1	BTN3A3	6	26444434	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	70911	26444434	144670633	795	29068										
HIST1H2BL	8340	genome.wustl.edu	37	chr6	27775463	27775463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggcgggaagcctcgcttgcGatgcgctcgaagatgtcgtt	15	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:27775463G>C	ENST00000377401.2	-	1	246	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	74					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTCGCTTGCGATGCGCTCGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											152	144	147					6																	27775463		2203	4300	6503	SO:0001583	missense	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.222C>G	6.37:g.27775463G>C	ENSP00000366618:p.Ile74Met		B2R5A3|Q52LW9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74M	ENST00000377401.2	37	c.222	CCDS4625.1	6	.	.	.	.	.	.	.	.	.	.	.	11.76	1.733411	0.30684	.	.	ENSG00000185130	ENST00000377401	T	0.46063	0.88	4.35	3.48	0.39840	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.59742	0.2216	M	0.93507	3.425	0.25961	N	0.982629	P	0.46220	0.874	P	0.60473	0.875	T	0.57653	-0.7774	9	0.87932	D	0	.	12.0668	0.53592	0.0859:0.0:0.9141:0.0	.	74	Q99880	H2B1L_HUMAN	M	74	ENSP00000366618:I74M	ENSP00000366618:I74M	I	-	3	3	HIST1H2BL	27883442	1.000000	0.71417	0.998000	0.56505	0.269000	0.26545	1.780000	0.38634	1.120000	0.41904	-0.140000	0.14226	ATC	HIST1H2BL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.612	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BL	HGNC	protein_coding	OTTHUMT00000040153.1	G	NM_003519		27775463	-1	no_errors	ENST00000377401	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27775463	G	C	27775463	3	2	160	1	0	0	0	0	1	0	0	0	7171	1048	37	1	162	1	HIST1H2BL	6	27775463	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1331029	27775463	143339604	796	29069										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834714	27834714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctttgggctttgccgccttCggcttaactgccttgggctt	12	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:27834714C>T	ENST00000331442.3	-	1	645	c.594G>A	c.(592-594)ccG>ccA	p.P198P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	198					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.P198P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCGCCTTCGGCTTAACTG	0.557																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											71	68	69					6																	27834714		2203	4300	6503	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.594G>A	6.37:g.27834714C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.P198	ENST00000331442.3	37	c.594	CCDS4635.1	6																																																																																			HIST1H1B	-	prints_Histone_H5		0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834714	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	0.208	T	T	27834714	C	T	27834714	2	4	160	1	0	0	0	0	0	0	0	1	7143	871	31	1		1	HIST1H1B	6	27834714	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	59251	27834714	143280353	797	29070										
NKAPL	222698	genome.wustl.edu	37	chr6	28228247	28228247	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctacagtgctgatgagaaGagagctcttgcatcctttaa	9	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28228247G>C	ENST00000343684.3	+	1	1150	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	366										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTGATGAGAAGAGAGCTCTTG	0.443																																																	0													159	147	152					6																	28228247		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1098G>C	6.37:g.28228247G>C	ENSP00000345716:p.Lys366Asn		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K366N	ENST00000343684.3	37	c.1098	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530922	0.64972	.	.	ENSG00000189134	ENST00000343684	T	0.32023	1.47	4.63	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53493	-0.8431	10	0.87932	D	0	-18.4002	7.7627	0.28961	0.2087:0.0:0.7913:0.0	.	366	Q5M9Q1	NKAPL_HUMAN	N	366	ENSP00000345716:K366N	ENSP00000345716:K366N	K	+	3	2	NKAPL	28336226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.169000	0.50809	0.592000	0.29728	0.655000	0.94253	AAG	NKAPL	-	pfam_DUF926		0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	G			28228247	1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28228247	G	C	28228247	3	2	160	1	0	0	0	0	1	0	0	0	10464	933	33	1	1100	1	NKAPL	6	28228247	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	393533	28228247	142886820	798	29071										
NKAPL	222698	genome.wustl.edu	37	chr6	28228286	28228286	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaccaagaagagagacgaaaGagagaaagtaagattttagc	11	4	0	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28228286G>C	ENST00000343684.3	+	1	1189	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	379										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAGACGAAAGAGAGAAAGTA	0.428																																																	0													110	104	106					6																	28228286		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1137G>C	6.37:g.28228286G>C	ENSP00000345716:p.Lys379Asn		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K379N	ENST00000343684.3	37	c.1137	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637886	0.67130	.	.	ENSG00000189134	ENST00000343684	T	0.25912	1.77	4.63	3.74	0.42951	.	0.047269	0.85682	N	0.000000	T	0.32704	0.0838	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13361	-1.0512	10	0.49607	T	0.09	-10.92	6.4153	0.21714	0.0977:0.1877:0.7146:0.0	.	379	Q5M9Q1	NKAPL_HUMAN	N	379	ENSP00000345716:K379N	ENSP00000345716:K379N	K	+	3	2	NKAPL	28336265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.789000	0.55454	1.261000	0.44149	0.655000	0.94253	AAG	NKAPL	-	pfam_DUF926		0.428	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	G			28228286	1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28228286	G	C	28228286	3	2	160	1	0	0	0	0	1	0	0	0	10464	933	33	1	1139	1	NKAPL	6	28228286	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	39	28228286	142886781	799	29072										
PGBD1	84547	genome.wustl.edu	37	chr6	28269029	28269029	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgtttggtgtcttacttttGagtggatttatgaggcatcc	12	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28269029G>C	ENST00000405948.2	+	7	1818	c.1398G>C	c.(1396-1398)ttG>ttC	p.L466F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L466F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	466						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTTACTTTTGAGTGGATTTA	0.393																																																	0													169	168	168					6																	28269029		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1398G>C	6.37:g.28269029G>C	ENSP00000385213:p.Leu466Phe		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.L466F	ENST00000405948.2	37	c.1398	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613275	0.28712	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.23147	1.92;1.92	4.66	1.85	0.25348	.	0.426470	0.17587	N	0.168887	T	0.08626	0.0214	L	0.45137	1.4	0.24912	N	0.992032	B	0.26147	0.143	B	0.34093	0.175	T	0.34850	-0.9812	10	0.30854	T	0.27	-15.6944	6.9761	0.24677	0.0931:0.3346:0.5723:0.0	.	466	Q96JS3	PGBD1_HUMAN	F	466	ENSP00000385213:L466F;ENSP00000259883:L466F	ENSP00000259883:L466F	L	+	3	2	PGBD1	28377008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.279000	0.33191	0.273000	0.22049	0.655000	0.94253	TTG	PGBD1	-	NULL		0.393	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	G			28269029	1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28269029	G	C	28269029	3	2	160	1	0	0	0	0	1	0	0	0	11804	1281	45	1	1420	1	PGBD1	6	28269029	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	40743	28269029	142846038	800	29073										
SCAND3	114821	genome.wustl.edu	37	chr6	28543884	28543884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttatcaccacccatgctttGagacatcatggaaaaccaca	6	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:28543884G>C	ENST00000452236.2	-	3	1215	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCCATGCTTTGAGACATCATG	0.328																																																	0													45	48	47					6																	28543884		2164	4286	6450	SO:0001583	missense	114821																														ENST00000452236.2:c.598C>G	6.37:g.28543884G>C	ENSP00000395259:p.Gln200Glu			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.Q200E	ENST00000452236.2	37	c.598	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253974	0.22965	.	.	ENSG00000232040	ENST00000452236	T	0.01430	4.9	3.08	2.18	0.27775	.	.	.	.	.	T	0.00496	0.0016	L	0.27053	0.805	0.20873	N	0.99984	B	0.20261	0.043	B	0.17433	0.018	T	0.47484	-0.9114	9	0.72032	D	0.01	.	7.5868	0.27998	0.0:0.0:0.7473:0.2527	.	200	Q6R2W3	SCND3_HUMAN	E	200	ENSP00000395259:Q200E	ENSP00000395259:Q200E	Q	-	1	0	SCAND3	28651863	0.997000	0.39634	0.639000	0.29394	0.960000	0.62799	1.569000	0.36428	0.617000	0.30160	0.585000	0.79938	CAA	SCAND3	-	NULL		0.328	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	G			28543884	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	missense	SNP	0.811	C	C	28543884	G	C	28543884	3	2	160	1	0	0	0	0	1	0	0	0	13906	1299	45	1	3387	1	SCAND3	6	28543884	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	274855	28543884	142571183	801	29074										
OR2B3	442184	genome.wustl.edu	37	chr6	29054661	29054661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctgcaaacagccacatatCtgtcaaaggacataacagcc	7	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29054661C>G	ENST00000377173.2	-	1	429	c.365G>C	c.(364-366)aGa>aCa	p.R122T		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGCCACATATCTGTCAAAGGA	0.493																																																	0													93	89	90					6																	29054661		2203	4300	6503	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.365G>C	6.37:g.29054661C>G	ENSP00000366378:p.Arg122Thr		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122T	ENST00000377173.2	37	c.365	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924866	0.73213	.	.	ENSG00000204703	ENST00000377173	T	0.77489	-1.1	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001237	D	0.92420	0.7594	H	0.99842	4.835	0.32141	N	0.585442	D	0.89917	1.0	D	0.83275	0.996	D	0.92552	0.6051	10	0.87932	D	0	.	14.4933	0.67667	0.0:1.0:0.0:0.0	.	122	O76000	OR2B3_HUMAN	T	122	ENSP00000366378:R122T	ENSP00000366378:R122T	R	-	2	0	OR2B3	29162640	0.171000	0.23029	0.932000	0.37286	0.985000	0.73830	4.272000	0.58908	1.696000	0.51158	0.579000	0.79373	AGA	OR2B3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	C			29054661	-1	no_errors	ENST00000377173	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29054661	C	G	29054661	3	3	160	1	0	0	0	0	1	0	0	0	11014	913	32	1	580	1	OR2B3	6	29054661	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	510777	29054661	142060406	802	29075										
UBD	10537	genome.wustl.edu	37	chr6	29523823	29523823	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgctttcacttgtgccactGagctggaccttcgcacctgg	10	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29523823G>A	ENST00000377050.4	-	2	555	c.332C>T	c.(331-333)tCa>tTa	p.S111L	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	111	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTGTGCCACTGAGCTGGACCT	0.512																																																	0													127	112	118					6																	29523823		1511	2709	4220	SO:0001583	missense	10537			Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.332C>T	6.37:g.29523823G>A	ENSP00000366249:p.Ser111Leu		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.S111L	ENST00000377050.4	37	c.332	CCDS4662.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005933	0.74932	.	.	ENSG00000213886	ENST00000377050	T	0.74737	-0.87	5.08	4.15	0.48705	Ubiquitin supergroup (1);Ubiquitin (2);	0.769546	0.10148	U	0.710042	T	0.70334	0.3212	M	0.76938	2.355	0.80722	D	1	B	0.33266	0.404	B	0.39590	0.304	T	0.74934	-0.3495	10	0.87932	D	0	-4.1041	10.6704	0.45755	0.0:0.194:0.806:0.0	.	111	O15205	UBD_HUMAN	L	111	ENSP00000366249:S111L	ENSP00000366249:S111L	S	-	2	0	UBD	29631802	0.343000	0.24818	0.999000	0.59377	0.971000	0.66376	2.550000	0.45811	2.342000	0.79632	0.543000	0.68304	TCA	UBD	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.512	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBD	HGNC	protein_coding	OTTHUMT00000076628.3	G			29523823	-1	no_errors	ENST00000377050	ensembl	human	known	70_37	missense	SNP	0.997	A	A	29523823	G	A	29523823	3	1	160	1	0	0	0	0	1	0	0	0	16874	1294	45	1	169	1	UBD	6	29523823	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	469162	29523823	141591244	803	29076										
HLA-A	3105	genome.wustl.edu	37	chr6	29910647	29910647	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttcgtgcggttcgacagcGacgccgcgagccagaggatg	16	11	0	1	rs199474387		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29910647G>C	ENST00000396634.1	+	4	528	c.187G>C	c.(187-189)Gac>Cac	p.D63H	HLA-A_ENST00000376806.5_Missense_Mutation_p.D63H|HLA-A_ENST00000376809.5_Missense_Mutation_p.D63H|HLA-A_ENST00000376802.2_Missense_Mutation_p.D63H			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	63	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTTCGACAGCGACGCCGCGAG	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													51	47	48					6																	29910647		2202	4298	6500	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.187G>C	6.37:g.29910647G>C	ENSP00000379873:p.Asp63His		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.D63H	ENST00000396634.1	37	c.187	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	15.69	2.908575	0.52439	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00856	5.61;5.61;5.61;5.61	3.72	2.83	0.33086	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.384680	0.05515	U	0.561134	T	0.08935	0.0221	H	0.99987	5.26	0.24861	N	0.992347	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0	T	0.49934	-0.8886	10	0.62326	D	0.03	.	6.5333	0.22339	0.1325:0.0:0.8675:0.0	.	63;63;63;63;63	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	H	63	ENSP00000379873:D63H;ENSP00000366002:D63H;ENSP00000366005:D63H;ENSP00000365998:D63H	ENSP00000348012:D63H	D	+	1	0	HLA-A	30018626	0.446000	0.25665	0.960000	0.40013	0.800000	0.45204	0.890000	0.28295	2.112000	0.64535	0.478000	0.44815	GAC	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910647	1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.899	C	C	29910647	G	C	29910647	3	2	160	1	0	0	0	0	1	0	0	0	7215	1058	37	1	193	1	HLA-A	6	29910647	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	386824	29910647	141204420	804	29077										
HLA-A	3105	genome.wustl.edu	37	chr6	29910744	29910744	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acggaatgtgaaggcccagtCacagactgaccgagtggacc	13	11	1	3	rs281864739|rs199474451		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:29910744C>G	ENST00000396634.1	+	4	625	c.284C>G	c.(283-285)tCa>tGa	p.S95*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.S95*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.S95*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.S95*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	95	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGGCCCAGTCACAGACTGAC	0.682									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													73	78	77					6																	29910744		2197	4292	6489	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.284C>G	6.37:g.29910744C>G	ENSP00000379873:p.Ser95*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.S95*	ENST00000396634.1	37	c.284	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	36	5.607162	0.96626	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.5	0.16919	.	0.693044	0.10708	U	0.643154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.7655	0.05319	0.2212:0.5135:0.0:0.2654	.	.	.	.	X	95	.	ENSP00000348012:S95X	S	+	2	0	HLA-A	30018723	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.123000	0.15708	-0.013000	0.14199	0.478000	0.44815	TCA	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.682	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	C	NM_002116		29910744	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	29910744	C	G	29910744	4	3	160	1	0	0	0	0	0	1	0	0	7215	838	29	1	290	1	HLA-A	6	29910744	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	97	29910744	141204323	805	29078										
TRIM31	11074	genome.wustl.edu	37	chr6	30071895	30071895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttacctgcagaagatgacccGggctctgaggttttgttcat	11	9	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30071895G>A	ENST00000376734.3	-	8	1133	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.P336P|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	336					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						AAGATGACCCGGGCTCTGAGG	0.423																																																	0													135	153	147					6																	30071895		1510	2709	4219	SO:0001819	synonymous_variant	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1008C>T	6.37:g.30071895G>A			A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata	p.P336	ENST00000376734.3	37	c.1008	CCDS34374.1	6																																																																																			TRIM31	-	NULL		0.423	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	HGNC	protein_coding	OTTHUMT00000076081.2	G			30071895	-1	no_errors	ENST00000376734	ensembl	human	known	70_37	silent	SNP	0.000	A	A	30071895	G	A	30071895	2	1	160	1	0	0	0	0	0	0	0	1	16536	1103	39	2		2	TRIM31	6	30071895	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	161151	30071895	141043172	806	29079										
PRR3	80742	genome.wustl.edu	37	chr6	30525127	30525127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgccgcagacacgatgccGaaacgaaagaagcagaatca	10	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30525127G>A	ENST00000376560.3	+	1	465	c.6G>A	c.(4-6)ccG>ccA	p.P2P	PRR3_ENST00000376557.3_Silent_p.P2P|PRR3_ENST00000498336.1_3'UTR|GNL1_ENST00000376621.3_5'Flank	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	2							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						ACACGATGCCGAAACGAAAGA	0.632																																																	0													23	28	26					6																	30525127		1384	2618	4002	SO:0001819	synonymous_variant	80742			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"Zinc fingers, CCCH-type domain containing"	21149	protein-coding gene	gene with protein product			"proline-rich polpeptide 3"				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.6G>A	6.37:g.30525127G>A			A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P2	ENST00000376560.3	37	c.6	CCDS43440.1	6																																																																																			PRR3	-	NULL		0.632	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	G	NM_025263		30525127	1	no_errors	ENST00000376560	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30525127	G	A	30525127	2	1	160	1	0	0	0	0	0	0	0	1	12625	1045	37	1		1	PRR3	6	30525127	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	453232	30525127	140589940	807	29080										
MDC1	9656	genome.wustl.edu	37	chr6	30671987	30671987	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtaaaaggctcaagatcaGaggctgctggttcaactggt	14	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30671987G>A	ENST00000376406.3	-	10	5620	c.4973C>T	c.(4972-4974)tCt>tTt	p.S1658F	MDC1_ENST00000376405.2_Missense_Mutation_p.S1394F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1658					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTCAAGATCAGAGGCTGCTGG	0.537								Other conserved DNA damage response genes																																									0													109	113	112					6																	30671987		2203	4300	6503	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4973C>T	6.37:g.30671987G>A	ENSP00000365588:p.Ser1658Phe		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S1658F	ENST00000376406.3	37	c.4973	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656973	0.47467	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05580	3.42;3.42	3.67	1.82	0.25136	.	0.908846	0.08949	N	0.870458	T	0.07593	0.0191	L	0.57536	1.79	0.09310	N	1	D;D	0.67145	0.996;0.988	D;P	0.64877	0.93;0.758	T	0.27020	-1.0086	10	0.87932	D	0	1.7054	4.9908	0.14213	0.1186:0.2169:0.6645:0.0	.	1394;1658	Q14676-2;Q14676	.;MDC1_HUMAN	F	1658;1394;1371;1224	ENSP00000365588:S1658F;ENSP00000365587:S1394F	ENSP00000365587:S1394F	S	-	2	0	MDC1	30779966	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	0.396000	0.20867	0.504000	0.28082	0.449000	0.29647	TCT	MDC1	-	NULL		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30671987	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.001	A	A	30671987	G	A	30671987	3	1	160	1	0	0	0	0	1	0	0	0	9426	942	33	1	1320	1	MDC1	6	30671987	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	146860	30671987	140443080	808	29081										
MDC1	9656	genome.wustl.edu	37	chr6	30675414	30675414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccagaaggtacgggggctGaggtaggtcccggaaggtcc	17	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30675414G>A	ENST00000376406.3	-	8	3589	c.2942C>T	c.(2941-2943)tCa>tTa	p.S981L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	981				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TACGGGGGCTGAGGTAGGTCC	0.657								Other conserved DNA damage response genes																																									0													71	81	78					6																	30675414		1509	2707	4216	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2942C>T	6.37:g.30675414G>A	ENSP00000365588:p.Ser981Leu		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S981L	ENST00000376406.3	37	c.2942	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	g	12.00	1.805755	0.31961	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02944	4.1	3.54	3.54	0.40534	.	.	.	.	.	T	0.01189	0.0039	L	0.32530	0.975	0.80722	D	1	B	0.29862	0.259	B	0.24848	0.056	T	0.51710	-0.8671	9	0.59425	D	0.04	-2.2382	10.4838	0.44708	0.0:0.0:1.0:0.0	.	981	Q14676	MDC1_HUMAN	L	981	ENSP00000365588:S981L	ENSP00000365588:S981L	S	-	2	0	MDC1	30783393	0.006000	0.16342	0.398000	0.26321	0.100000	0.18952	0.549000	0.23329	1.811000	0.52892	0.443000	0.29094	TCA	MDC1	-	NULL		0.657	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30675414	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.486	A	A	30675414	G	A	30675414	3	1	160	1	0	0	0	0	1	0	0	0	9426	1294	45	1	3359	1	MDC1	6	30675414	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3427	30675414	140439653	809	29082										
MDC1	9656	genome.wustl.edu	37	chr6	30681015	30681015	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcacctcttctggcagctGaggaggcctcctctgtggct	13	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30681015G>C	ENST00000376406.3	-	5	1351	c.704C>G	c.(703-705)tCa>tGa	p.S235*	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.S235*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	235	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTGGCAGCTGAGGAGGCCTC	0.537								Other conserved DNA damage response genes																																									0													89	98	95					6																	30681015		1509	2708	4217	SO:0001587	stop_gained	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.704C>G	6.37:g.30681015G>C	ENSP00000365588:p.Ser235*		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S235*	ENST00000376406.3	37	c.704	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727471	0.69074	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797	.	.	.	4.96	-3.5	0.04710	.	1.214100	0.06380	N	0.715153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.2548	11.5288	0.50595	0.7187:0.0:0.2813:0.0	.	.	.	.	X	235;235;235;107;235	.	ENSP00000365587:S235X	S	-	2	0	MDC1	30788994	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.353000	0.20130	-0.639000	0.05502	-0.258000	0.10820	TCA	MDC1	-	NULL		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30681015	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	30681015	G	C	30681015	4	2	160	1	0	0	0	0	0	1	0	0	9426	1294	45	1	5609	1	MDC1	6	30681015	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5601	30681015	140434052	810	29083										
TUBB	203068	genome.wustl.edu	37	chr6	30691419	30691419	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctccgtccatcagttggtaGagaatactgatgagacctat	9	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30691419G>C	ENST00000327892.8	+	4	886	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	TUBB_ENST00000396389.1_Missense_Mutation_p.E176Q|TUBB_ENST00000330914.3_Missense_Mutation_p.E122Q|TUBB_ENST00000396384.1_Missense_Mutation_p.E122Q|TUBB_ENST00000435534.1_Intron|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	194					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTTGGTAGAGAATACTGA	0.512																																																	0													96	84	88					6																	30691419		2203	4300	6503	SO:0001583	missense	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.580G>C	6.37:g.30691419G>C	ENSP00000339001:p.Glu194Gln		P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E194Q	ENST00000327892.8	37	c.580	CCDS4687.1	6	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027464	0.54683	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.51	4.51	0.55191	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86960	0.2091	10	0.87932	D	0	.	14.7358	0.69414	0.0:0.0:1.0:0.0	.	194;194	P07437;F8VW92	TBB5_HUMAN;.	Q	194;103;122;176;122;48	ENSP00000339001:E194Q;ENSP00000365578:E122Q;ENSP00000379672:E176Q;ENSP00000379668:E122Q	ENSP00000339001:E194Q	E	+	1	0	TUBB	30799398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.323000	0.96364	2.330000	0.79161	0.491000	0.48974	GAG	TUBB	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Gamma_tubulin,prints_Delta_tubulin		0.512	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	G	NM_178014		30691419	1	no_errors	ENST00000327892	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30691419	G	C	30691419	3	2	160	1	0	0	0	0	1	0	0	0	16783	943	33	1	594	1	TUBB	6	30691419	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10404	30691419	140423648	811	29084										
DDR1	780	genome.wustl.edu	37	chr6	30866975	30866975	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctgcccgcagggcctatatGagctgatgcttcggtgctgg	14	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30866975G>A	ENST00000324771.8	+	20	3192	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	DDR1_ENST00000513240.1_Missense_Mutation_p.E888K|DDR1_ENST00000418800.2_Missense_Mutation_p.E845K|DDR1_ENST00000376567.2_Missense_Mutation_p.E845K|DDR1_ENST00000376569.3_Missense_Mutation_p.E845K|DDR1_ENST00000454612.2_Missense_Mutation_p.E845K|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000452441.1_Missense_Mutation_p.E882K|DDR1_ENST00000376575.3_Missense_Mutation_p.E888K|DDR1_ENST00000508312.1_Missense_Mutation_p.E863K|DDR1_ENST00000376570.4_Missense_Mutation_p.E845K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.E882K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGCCTATATGAGCTGATGCT	0.567																																																	0													108	103	104					6																	30866975		2203	4300	6503	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2644G>A	6.37:g.30866975G>A	ENSP00000318217:p.Glu882Lys		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E888K	ENST00000324771.8	37	c.2662	CCDS34385.1	6	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551931	0.27739	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.14	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84097	0.5397	N	0.21508	0.67	0.80722	D	1	D;B;D	0.76494	0.999;0.069;0.999	D;B;D	0.83275	0.995;0.155;0.996	T	0.81876	-0.0731	10	0.17369	T	0.5	.	11.4067	0.49902	0.0883:0.0:0.9117:0.0	.	863;888;882	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	K	882;845;845;845;888;845;882;882;863;845;888	ENSP00000318217:E882K;ENSP00000407699:E845K;ENSP00000406091:E845K;ENSP00000365753:E845K;ENSP00000365759:E888K;ENSP00000365754:E845K;ENSP00000365752:E882K;ENSP00000405039:E882K;ENSP00000422442:E863K;ENSP00000365751:E845K;ENSP00000427552:E888K	ENSP00000318217:E882K	E	+	1	0	DDR1	30974954	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.611000	0.61162	1.174000	0.42811	0.460000	0.39030	GAG	DDR1	-	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,pfscan_Prot_kinase_cat_dom		0.567	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	G	NM_013994		30866975	1	no_errors	ENST00000376575	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30866975	G	A	30866975	3	1	160	1	0	0	0	0	1	0	0	0	4341	1291	45	1	2728	1	DDR1	6	30866975	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	175556	30866975	140248092	812	29085										
DPCR1	135656	genome.wustl.edu	37	chr6	30917485	30917485	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccaatgacaaaaccacatCatcctcagcagagtctacag	6	13	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:30917485C>G	ENST00000462446.1	+	2	1272	c.1244C>G	c.(1243-1245)tCa>tGa	p.S415*	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	320	Thr-rich.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAACCACATCATCCTCAGCA	0.498																																																	0													151	146	148					6																	30917485		692	1591	2283	SO:0001587	stop_gained	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1244C>G	6.37:g.30917485C>G	ENSP00000417182:p.Ser415*		C9IZC0|Q658M7|Q8WYN2	Nonsense_Mutation	SNP	NULL	p.S415*	ENST00000462446.1	37	c.1244	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	16.84	3.234678	0.58886	.	.	ENSG00000168631	ENST00000462446	.	.	.	2.36	0.416	0.16416	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	4.4588	0.11656	0.0:0.3052:0.4715:0.2232	.	.	.	.	X	415	.	ENSP00000417182:S415X	S	+	2	0	DPCR1	31025464	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.435000	0.02423	0.115000	0.18071	0.525000	0.51046	TCA	DPCR1	-	NULL		0.498	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917485	1	no_errors	ENST00000462446	ensembl	human	novel	70_37	nonsense	SNP	0.000	G	G	30917485	C	G	30917485	4	3	160	1	0	0	0	0	0	1	0	0	4722	838	29	1	1250	1	DPCR1	6	30917485	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	50510	30917485	140197582	813	29086										
POU5F1	5460	genome.wustl.edu	37	chr6	31138112	31138112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgactcctgcttcgccctCaggctgagaggtctccaagc	10	17	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31138112C>T	ENST00000259915.8	-	1	358	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	96					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GCTTCGCCCTCAGGCTGAGAG	0.667			T	EWSR1	sarcoma																																			Dom	yes		6	6p21.31	5460	"POU domain, class 5, transcription factor 1"		M	0													33	34	33					6																	31138112		1511	2706	4217	SO:0001583	missense	5460			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.286G>A	6.37:g.31138112C>T	ENSP00000259915:p.Glu96Lys		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.E96K	ENST00000259915.8	37	c.286	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221126	0.39201	.	.	ENSG00000204531	ENST00000259915;ENST00000448657	T	0.54071	0.59	4.07	4.07	0.47477	.	0.587358	0.14170	N	0.336793	T	0.35770	0.0943	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42916	-0.9423	10	0.62326	D	0.03	.	11.9869	0.53153	0.0:1.0:0.0:0.0	.	96	Q01860	PO5F1_HUMAN	K	96	ENSP00000259915:E96K	ENSP00000259915:E96K	E	-	1	0	POU5F1	31246091	0.223000	0.23663	0.721000	0.30653	0.375000	0.29983	3.552000	0.53705	2.288000	0.76882	0.442000	0.29010	GAG	POU5F1	-	NULL		0.667	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	C	NM_002701		31138112	-1	no_errors	ENST00000259915	ensembl	human	known	70_37	missense	SNP	0.798	T	T	31138112	C	T	31138112	3	4	160	1	0	0	0	0	1	0	0	0	12305	835	29	1	816	1	POU5F1	6	31138112	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	220627	31138112	139976955	814	29087										
HLA-B	3106	genome.wustl.edu	37	chr6	31324477	31324477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcactcaccggcctcgctctGgttgtagtagccgcgcaggt	12	14	3	0	rs151341205		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31324477G>A	ENST00000412585.2	-	2	359	c.331C>T	c.(331-333)Cag>Tag	p.Q111*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	111	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCCTCGCTCTGGTTGTAGTAG	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													39	42	41					6																	31324477		2156	4243	6399	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.331C>T	6.37:g.31324477G>A	ENSP00000399168:p.Gln111*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.Q111*	ENST00000412585.2	37	c.331	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	21.5	4.162630	0.78226	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	.	.	.	3.2	3.2	0.36748	.	0.304822	0.17312	U	0.178846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0816	0.42393	0.0:0.0:1.0:0.0	.	.	.	.	X	111;122	.	ENSP00000399168:Q111X	Q	-	1	0	HLA-B	31432456	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	1.493000	0.35605	1.808000	0.52836	0.448000	0.29417	CAG	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31324477	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31324477	G	A	31324477	4	1	160	1	0	0	0	0	0	1	0	0	7216	1357	47	4	781	4	HLA-B	6	31324477	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	186365	31324477	139790590	815	29088										
MCCD1	401250	genome.wustl.edu	37	chr6	31496834	31496834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctctcggtaccatttccttCgcctccttctgccctcctgg	6	18	2	0	rs146742941	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31496834C>T	ENST00000376191.2	+	1	341	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	15						mitochondrion (GO:0005739)				skin(1)	1						CCATTTCCTTCGCCTCCTTCT	0.627																																																	0								C	CYS/ARG	0,3022		0,0,1511	173	128	144		43	0.8	0.1	6	dbSNP_134	144	2,5416		0,2,2707	yes	missense	MCCD1	NM_001011700.2	180	0,2,4218	TT,TC,CC		0.0369,0.0,0.0237	probably-damaging	15/120	31496834	2,8438	1511	2709	4220	SO:0001583	missense	401250				CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.43C>T	6.37:g.31496834C>T	ENSP00000365362:p.Arg15Cys		A2AB29|A2RUP7|B0UZB2|Q7RTY2	Missense_Mutation	SNP	NULL	p.R15C	ENST00000376191.2	37	c.43	CCDS34396.1	6	.	.	.	.	.	.	.	.	.	.	c	0.103	-1.148811	0.01714	0.0	3.69E-4	ENSG00000204511	ENST00000376191	T	0.25250	1.81	0.748	0.748	0.18376	.	1.197690	0.06338	N	0.707425	T	0.06645	0.0170	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.41770	-0.9490	9	0.72032	D	0.01	.	.	.	.	.	15	P59942	MCCD1_HUMAN	C	15	ENSP00000365362:R15C	ENSP00000365362:R15C	R	+	1	0	MCCD1	31604813	0.000000	0.05858	0.062000	0.19696	0.029000	0.11900	-1.047000	0.03521	0.691000	0.31592	0.555000	0.69702	CGC	MCCD1	-	NULL		0.627	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCD1	HGNC	protein_coding	OTTHUMT00000259099.1	C			31496834	1	no_errors	ENST00000376191	ensembl	human	known	70_37	missense	SNP	0.151	T	T	31496834	C	T	31496834	3	4	160	1	0	0	0	0	1	0	0	0	9399	884	31	1	45	1	MCCD1	6	31496834	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	172357	31496834	139618233	816	29089										
BAT2	7916	genome.wustl.edu	37	chr6	31591540	31591540	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catggcctgcagagtctcggGaaagttgccattgcccggcg	14	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31591540G>A	ENST00000376033.2	+	3	378	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PRRC2A_ENST00000469577.1_Intron|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Silent_p.G48G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	48	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGTCTCGGGAAAGTTGCCA	0.562																																																	0													61	54	56					6																	31591540		2203	4300	6503	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.144G>A	6.37:g.31591540G>A			B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	pfam_BAT2_N	p.G48	ENST00000376033.2	37	c.144	CCDS4708.1	6																																																																																			PRRC2A	-	pfam_BAT2_N		0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31591540	1	no_errors	ENST00000376007	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31591540	G	A	31591540	2	1	160	1	0	0	0	0	0	0	0	1	1320	1161	41	1		1	BAT2	6	31591540	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	94706	31591540	139523527	817	29090										
MSH5	4439	genome.wustl.edu	37	chr6	31730269	31730269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggacttgaacgttttcatGagccaggaagtgctgcctgc	12	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31730269G>C	ENST00000375755.3	+	25	2752	c.2466G>C	c.(2464-2466)atG>atC	p.M822I	MSH5_ENST00000375742.3_Missense_Mutation_p.M839I|MSH5_ENST00000375740.3_Missense_Mutation_p.M810I|SAPCD1_ENST00000415669.2_5'Flank|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.M823I|MSH5_ENST00000395853.1_Missense_Mutation_p.M496I|MSH5_ENST00000431848.2_Missense_Mutation_p.M521I|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.M839I|MSH5_ENST00000534153.4_Missense_Mutation_p.M839I|MSH5_ENST00000375750.3_Missense_Mutation_p.M822I	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	822					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						ACGTTTTCATGAGCCAGGAAG	0.502								Direct reversal of damage;Mismatch excision repair (MMR)																																									0													96	97	97					6																	31730269		2203	4300	6503	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2466G>C	6.37:g.31730269G>C	ENSP00000364908:p.Met822Ile		B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.M839I	ENST00000375755.3	37	c.2517	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526371	0.44969	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000429846;ENST00000491552	D;D;D;D;D;D;D;D;T	0.87809	-1.86;-1.85;-1.86;-1.85;-1.86;-2.3;-1.68;-1.67;1.01	5.81	3.98	0.46160	.	0.174382	0.64402	N	0.000011	T	0.61098	0.2320	N	0.19112	0.55	0.27877	N	0.939828	B;B;B;B;B	0.11235	0.0;0.001;0.001;0.001;0.004	B;B;B;B;B	0.10450	0.001;0.003;0.002;0.002;0.005	T	0.46527	-0.9185	9	0.24483	T	0.36	-12.2679	8.9036	0.35510	0.0788:0.0:0.7682:0.153	.	477;810;822;823;839	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	I	822;839;822;839;823;810;521;496;144;178	ENSP00000364908:M822I;ENSP00000364894:M839I;ENSP00000364903:M822I;ENSP00000431693:M839I;ENSP00000364855:M823I;ENSP00000364892:M810I;ENSP00000416784:M521I;ENSP00000379194:M496I;ENSP00000406849:M144I	ENSP00000364855:M823I	M	+	3	0	MSH5;MSH5-C6orf26	31838248	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	4.460000	0.60108	0.753000	0.32945	-0.150000	0.13652	ATG	MSH5	-	NULL		0.502	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	G			31730269	1	no_errors	ENST00000375742	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31730269	G	C	31730269	3	2	160	1	0	0	0	0	1	0	0	0	9896	1290	45	1	2614	1	MSH5	6	31730269	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	138729	31730269	139384798	818	29091										
HSPA1L	3305	genome.wustl.edu	37	chr6	31778931	31778931	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgctggacgacagggtcctCttggccctctcgcaggcggt	15	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31778931C>T	ENST00000375654.4	-	2	1008	c.819G>A	c.(817-819)aaG>aaA	p.K273K	HSPA1L_ENST00000417199.3_Silent_p.K273K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	273					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGGGTCCTCTTGGCCCTCT	0.527																																																	0													65	71	69					6																	31778931		2203	4300	6503	SO:0001819	synonymous_variant	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.819G>A	6.37:g.31778931C>T			A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K273	ENST00000375654.4	37	c.819	CCDS34413.1	6																																																																																			HSPA1L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.527	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	C			31778931	-1	no_errors	ENST00000375654	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31778931	C	T	31778931	2	4	160	1	0	0	0	0	0	0	0	1	7430	912	32	1		1	HSPA1L	6	31778931	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	48662	31778931	139336136	819	29092										
HSPA1B	3304	genome.wustl.edu	37	chr6	31797431	31797431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcagcgaggcggacaagaaGaaggttctggacaagtgtca	14	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31797431G>C	ENST00000375650.3	+	1	1920	c.1704G>C	c.(1702-1704)aaG>aaC	p.K568N	HSPA1B_ENST00000545241.1_Missense_Mutation_p.K477N	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	568					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CGGACAAGAAGAAGGTTCTGG	0.582																																																	0													103	68	79					6																	31797431		1930	3980	5910	SO:0001583	missense	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1704G>C	6.37:g.31797431G>C	ENSP00000364801:p.Lys568Asn		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K568N	ENST00000375650.3	37	c.1704	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758663	0.15846	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.15603	2.41;2.41	4.38	3.48	0.39840	.	0.180091	0.26522	N	0.023909	T	0.11324	0.0276	.	.	.	0.49915	D	0.999837	.	.	.	.	.	.	T	0.03413	-1.1039	7	0.33940	T	0.23	-7.5588	7.3297	0.26575	0.2073:0.0:0.7927:0.0	.	.	.	.	N	635;568;551;477	ENSP00000364801:K568N;ENSP00000442789:K477N	ENSP00000364801:K568N	K	+	3	2	HSPA1B	31905410	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	5.683000	0.68189	2.138000	0.66242	0.467000	0.42956	AAG	HSPA1B	-	pfam_Hsp_70_fam		0.582	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	G			31797431	1	no_errors	ENST00000375650	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31797431	G	C	31797431	3	2	160	1	0	0	0	0	1	0	0	0	7429	933	33	1	1706	1	HSPA1B	6	31797431	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18500	31797431	139317636	820	29093										
NEU1	4758	genome.wustl.edu	37	chr6	31830436	31830436	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttggaccaggaggctgccaGagacagcagcaggaagatcg	15	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:31830436G>C	ENST00000375631.4	-	1	247	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	40					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GAGGCTGCCAGAGACAGCAGC	0.637																																																	0													94	63	74					6																	31830436		1511	2709	4220	SO:0001583	missense	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.118C>G	6.37:g.31830436G>C	ENSP00000364782:p.Leu40Val			Missense_Mutation	SNP	superfamily_Neuraminidase	p.L40V	ENST00000375631.4	37	c.118	CCDS4723.1	6	.	.	.	.	.	.	.	.	.	.	G	4.192	0.034330	0.08101	.	.	ENSG00000204386	ENST00000375631	D	0.88975	-2.45	4.52	-0.547	0.11836	.	1.326250	0.04851	N	0.442251	T	0.60560	0.2278	L	0.33485	1.01	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.56318	-0.7999	10	0.02654	T	1	-13.25	6.8434	0.23975	0.1784:0.4947:0.3269:0.0	.	40;40	E9PIF4;Q99519	.;NEUR1_HUMAN	V	40	ENSP00000364782:L40V	ENSP00000364782:L40V	L	-	1	2	NEU1	31938415	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-0.010000	0.12743	-0.113000	0.11958	-0.176000	0.13171	CTG	NEU1	-	NULL		0.637	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU1	HGNC	protein_coding	OTTHUMT00000076616.2	G			31830436	-1	no_errors	ENST00000375631	ensembl	human	known	70_37	missense	SNP	0.003	C	C	31830436	G	C	31830436	3	2	160	1	0	0	0	0	1	0	0	0	10365	933	33	1	1153	1	NEU1	6	31830436	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	33005	31830436	139284631	821	29094										
FKBPL	63943	genome.wustl.edu	37	chr6	32097077	32097077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catggactccaagcatttctCtatgagctccccccaagttt	6	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:32097077C>G	ENST00000375156.3	-	2	751	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										AAGCATTTCTCTATGAGCTCC	0.577																																																	0													178	187	184					6																	32097077		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.481G>C	6.37:g.32097077C>G	ENSP00000364298:p.Glu161Gln		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E161Q	ENST00000375156.3	37	c.481	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295715	0.81025	.	.	ENSG00000204315	ENST00000375156	D	0.85861	-2.04	5.38	5.38	0.77491	.	0.000000	0.45126	D	0.000388	D	0.84465	0.5478	N	0.24115	0.695	0.47374	D	0.999407	D	0.76494	0.999	D	0.66716	0.946	D	0.86806	0.1995	10	0.72032	D	0.01	-16.9716	16.6778	0.85284	0.0:1.0:0.0:0.0	.	161	Q9UIM3	FKBPL_HUMAN	Q	161	ENSP00000364298:E161Q	ENSP00000364298:E161Q	E	-	1	0	FKBPL	32205055	0.993000	0.37304	0.963000	0.40424	0.994000	0.84299	4.840000	0.62817	2.804000	0.96469	0.462000	0.41574	GAG	FKBPL	-	NULL		0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32097077	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	missense	SNP	0.994	G	G	32097077	C	G	32097077	3	3	160	1	0	0	0	0	1	0	0	0	5934	922	32	1	572	1	FKBPL	6	32097077	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	266641	32097077	139017990	822	29095										
BRD2	6046	genome.wustl.edu	37	chr6	32942501	32942501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaaacatcagttcgcatggCcattccggcagcctgtggat	12	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:32942501C>T	ENST00000374825.4	+	3	1993	c.292C>T	c.(292-294)Cca>Tca	p.P98S	BRD2_ENST00000449085.2_Missense_Mutation_p.P51S|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000374831.4_Missense_Mutation_p.P98S|BRD2_ENST00000395287.1_Missense_Mutation_p.P98S|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000395289.2_Missense_Mutation_p.P98S	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	98	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GTTCGCATGGCCATTCCGGCA	0.537																																																	0													55	49	51					6																	32942501		2203	4300	6503	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.292C>T	6.37:g.32942501C>T	ENSP00000363958:p.Pro98Ser		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P98S	ENST00000374825.4	37	c.292	CCDS4762.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.098227	0.94197	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287;ENST00000449085	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.36	5.36	0.76844	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.47455	D	0.000237	T	0.64327	0.2588	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77998	-0.2376	10	0.66056	D	0.02	-12.7506	16.641	0.85127	0.0:1.0:0.0:0.0	.	98;98	A2AAU0;P25440	.;BRD2_HUMAN	S	98;98;98;98;51	ENSP00000363958:P98S;ENSP00000363964:P98S;ENSP00000378704:P98S;ENSP00000378702:P98S;ENSP00000409145:P51S	ENSP00000363958:P98S	P	+	1	0	BRD2	33050479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.602000	0.82796	2.784000	0.95788	0.643000	0.83706	CCA	BRD2	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.537	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	C			32942501	1	no_errors	ENST00000395289	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32942501	C	T	32942501	3	4	160	1	0	0	0	0	1	0	0	0	1505	739	26	4	298	4	BRD2	6	32942501	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	845424	32942501	138172566	823	29096										
TAPBP	6892	genome.wustl.edu	37	chr6	33272263	33272263	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctctgcccctcggccttctGagagcggccccctgggccac	11	20	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33272263G>C	ENST00000489157.1	-	4	972	c.760C>G	c.(760-762)Cag>Gag	p.Q254E	TAPBP_ENST00000456592.2_Missense_Mutation_p.Q341E|TAPBP_ENST00000426633.2_Missense_Mutation_p.Q341E|TAPBP_ENST00000434618.2_Missense_Mutation_p.Q341E|TAPBP_ENST00000475304.1_Missense_Mutation_p.Q359E			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	341					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TCGGCCTTCTGAGAGCGGCCC	0.677																																																	0													20	25	23					6																	33272263		2196	4287	6483	SO:0001583	missense	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.760C>G	6.37:g.33272263G>C	ENSP00000419659:p.Gln254Glu		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.Q341E	ENST00000489157.1	37	c.1021	CCDS34427.2	6	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.768337	0.00645	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.27	2.23	0.28157	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.682102	0.13826	N	0.360070	T	0.04003	0.0112	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.33777	0.101;0.102;0.425;0.084;0.207	B;B;B;B;B	0.34931	0.023;0.034;0.192;0.013;0.057	T	0.38757	-0.9646	10	0.02654	T	1	-2.6408	7.9919	0.30246	0.0:0.1473:0.5305:0.3222	.	341;254;359;341;341	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	E	341;359;254;341;341;341	ENSP00000395701:Q341E;ENSP00000417949:Q359E;ENSP00000419659:Q254E;ENSP00000404833:Q341E;ENSP00000387803:Q341E	ENSP00000404833:Q341E	Q	-	1	0	TAPBP	33380241	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	0.564000	0.23563	0.667000	0.31107	0.549000	0.68633	CAG	TAPBP	-	pfam_Ig_C1-set,pfscan_Ig-like		0.677	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33272263	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33272263	G	C	33272263	3	2	160	1	0	0	0	0	1	0	0	0	15582	1299	45	1	521	1	TAPBP	6	33272263	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	329762	33272263	137842804	824	29097										
DAXX	1616	genome.wustl.edu	37	chr6	33286832	33286832	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgggacagccgggctggaGaagggatgcagagggagctg	20	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33286832G>A	ENST00000374542.5	-	7	2309	c.2105C>T	c.(2104-2106)tCt>tTt	p.S702F	DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S627F|DAXX_ENST00000266000.6_Missense_Mutation_p.S702F|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	702	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCGGGCTGGAGAAGGGATGCA	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													71	79	76					6																	33286832		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2105C>T	6.37:g.33286832G>A	ENSP00000363668:p.Ser702Phe		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.S702F	ENST00000374542.5	37	c.2105	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684130	0.29872	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	5.26	-0.0403	0.13872	.	0.758230	0.11580	N	0.549879	T	0.12050	0.0293	L	0.44542	1.39	0.18873	N	0.999982	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.28554	-1.0040	9	0.62326	D	0.03	1.581	1.2756	0.02030	0.2593:0.1495:0.438:0.1532	.	714;702	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	702;702;627	.	ENSP00000266000:S702F	S	-	2	0	DAXX	33394810	0.314000	0.24563	0.489000	0.27452	0.784000	0.44337	-0.261000	0.08694	0.061000	0.16311	0.643000	0.83706	TCT	DAXX	-	pfam_Daxx		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	G			33286832	-1	no_errors	ENST00000266000	ensembl	human	known	70_37	missense	SNP	0.196	A	A	33286832	G	A	33286832	3	1	160	1	0	0	0	0	1	0	0	0	4248	942	33	1	125	1	DAXX	6	33286832	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	14569	33286832	137828235	825	29098										
DAXX	1616	genome.wustl.edu	37	chr6	33289038	33289038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agactgagaggcagtgttttCagcatttgtggggtccaagg	15	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33289038C>T	ENST00000374542.5	-	3	718	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.E97K|DAXX_ENST00000266000.6_Missense_Mutation_p.E172K	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	172					activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCAGTGTTTTCAGCATTTGTG	0.597			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													70	71	71					6																	33289038		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.514G>A	6.37:g.33289038C>T	ENSP00000363668:p.Glu172Lys		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.E172K	ENST00000374542.5	37	c.514	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470848	0.43942	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083;ENST00000446403	.	.	.	5.1	3.27	0.37495	.	0.219803	0.46145	D	0.000316	T	0.27098	0.0664	M	0.79926	2.475	0.09310	N	1	B;B;B	0.30634	0.288;0.163;0.163	B;B;B	0.30105	0.111;0.111;0.111	T	0.11494	-1.0585	9	0.26408	T	0.33	-5.314	7.8173	0.29267	0.0:0.8064:0.0:0.1936	.	184;172;172	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	K	172;172;97;172	.	ENSP00000266000:E172K	E	-	1	0	DAXX	33397016	0.002000	0.14202	0.004000	0.12327	0.994000	0.84299	0.710000	0.25748	1.376000	0.46267	0.643000	0.83706	GAA	DAXX	-	pfam_Daxx		0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	C			33289038	-1	no_errors	ENST00000266000	ensembl	human	known	70_37	missense	SNP	0.002	T	T	33289038	C	T	33289038	3	4	160	1	0	0	0	0	1	0	0	0	4248	835	29	1	1732	1	DAXX	6	33289038	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2206	33289038	137826029	826	29099										
ITPR3	3710	genome.wustl.edu	37	chr6	33647815	33647815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctgctggccgcctgtgccGagggcaaaaacgtctacact	11	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:33647815G>A	ENST00000374316.5	+	32	5189	c.4129G>A	c.(4129-4131)Gag>Aag	p.E1377K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1377K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1377					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGCCTGTGCCGAGGGCAAAAA	0.627																																																	0													78	57	64					6																	33647815		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4129G>A	6.37:g.33647815G>A	ENSP00000363435:p.Glu1377Lys		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1377K	ENST00000374316.5	37	c.4129	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.568192	0.96540	.	.	ENSG00000096433	ENST00000374316	D	0.92911	-3.13	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.95025	0.8164	10	0.51188	T	0.08	-33.2384	17.5645	0.87916	0.0:0.0:1.0:0.0	.	1377	Q14573	ITPR3_HUMAN	K	1377	ENSP00000363435:E1377K	ENSP00000363435:E1377K	E	+	1	0	ITPR3	33755793	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.813000	0.99286	2.206000	0.71126	0.462000	0.41574	GAG	ITPR3	-	NULL		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33647815	1	no_errors	ENST00000374316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33647815	G	A	33647815	3	1	160	1	0	0	0	0	1	0	0	0	7942	1059	37	1	4251	1	ITPR3	6	33647815	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	358777	33647815	137467252	827	29100										
NUDT3	11165	genome.wustl.edu	37	chr6	34309715	34309715	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcctccagggacaatccatCtgtctggatggcgactactg	10	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34309715C>T	ENST00000607016.1	-	2	445	c.134G>A	c.(133-135)aGa>aAa	p.R45K	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.R164K	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	45	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						GACAATCCATCTGTCTGGATG	0.522																																					GBM(96;1206 1939 18658 39482)												0													139	106	117					6																	34309715		2203	4300	6503	SO:0001583	missense	11165			AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"Nudix motif containing"	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.134G>A	6.37:g.34309715C>T	ENSP00000476119:p.Arg45Lys		B2R8N4	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R45K	ENST00000607016.1	37	c.134	CCDS4791.1	6	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263057	0.23051	.	.	ENSG00000112664	ENST00000358797	T	0.07800	3.16	5.66	4.6	0.57074	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.174251	0.37669	N	0.001997	T	0.01730	0.0055	L	0.28014	0.82	0.37015	D	0.895904	B	0.02656	0.0	B	0.01281	0.0	T	0.31586	-0.9938	10	0.02654	T	1	-6.5372	10.7171	0.46019	0.0:0.8373:0.0:0.1627	.	45	O95989	NUDT3_HUMAN	K	45	ENSP00000351650:R45K	ENSP00000351650:R45K	R	-	2	0	NUDT3	34417693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.513000	0.53414	2.674000	0.91012	0.585000	0.79938	AGA	NUDT3	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.522	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT3	HGNC	protein_coding	OTTHUMT00000040224.2	C			34309715	-1	no_errors	ENST00000358797	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34309715	C	T	34309715	3	4	160	1	0	0	0	0	1	0	0	0	10764	913	32	1	400	1	NUDT3	6	34309715	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	661900	34309715	136805352	828	29101										
SPDEF	25803	genome.wustl.edu	37	chr6	34507169	34507169	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtccagctctcctcactggtCgaggctgggtggccagggag	16	12	2	0	rs374206315		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34507169C>G	ENST00000374037.3	-	5	1101	c.687G>C	c.(685-687)tcG>tcC	p.S229S	SPDEF_ENST00000544425.1_Silent_p.S213S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	229					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCTCACTGGTCGAGGCTGGGT	0.672																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	80	76	77		687	-8.9	0.5	6		77	0,8600		0,0,4300	no	coding-synonymous	SPDEF	NM_012391.1		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		229/336	34507169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.687G>C	6.37:g.34507169C>G			B4DWH8|F5H778	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.S229	ENST00000374037.3	37	c.687	CCDS4794.1	6																																																																																			SPDEF	-	NULL		0.672	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	C	NM_012391		34507169	-1	no_errors	ENST00000374037	ensembl	human	known	70_37	silent	SNP	0.000	G	G	34507169	C	G	34507169	2	3	160	1	0	0	0	0	0	0	0	1	15056	871	31	1		1	SPDEF	6	34507169	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	197454	34507169	136607898	829	29102										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34791077	34791077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatgaagacatgtgaggatcCtcggccccccaatggacagt	12	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34791077C>T	ENST00000192788.5	+	4	461	c.290C>T	c.(289-291)cCt>cTt	p.P97L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P97L|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	97							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGAGGATCCTCGGCCCCCC	0.448																																																	0													265	267	267					6																	34791077		1998	4154	6152	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.290C>T	6.37:g.34791077C>T	ENSP00000192788:p.Pro97Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.P97L	ENST00000192788.5	37	c.290	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.159712	0.94727	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08634	3.07;3.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00802	-1.1560	10	0.66056	D	0.02	-16.3349	18.541	0.91027	0.0:1.0:0.0:0.0	.	97	Q6BDS2	URFB1_HUMAN	L	97	ENSP00000192788:P97L;ENSP00000400628:P97L	ENSP00000192788:P97L	P	+	2	0	UHRF1BP1	34899055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.616000	0.83018	2.604000	0.88044	0.655000	0.94253	CCT	UHRF1BP1	-	NULL		0.448	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34791077	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34791077	C	T	34791077	3	4	160	1	0	0	0	0	1	0	0	0	16999	681	24	4	304	4	UHRF1BP1	6	34791077	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	283908	34791077	136323990	830	29103										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34835034	34835034	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatctgttccaccaggatctCtttcaaatgtctcagataat	5	10	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34835034C>G	ENST00000192788.5	+	16	3616	c.3445C>G	c.(3445-3447)Ctt>Gtt	p.L1149V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1149V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1149							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACCAGGATCTCTTTCAAATGT	0.428																																																	0													65	60	61					6																	34835034		1845	4085	5930	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3445C>G	6.37:g.34835034C>G	ENSP00000192788:p.Leu1149Val		Q9NXE0	Missense_Mutation	SNP	NULL	p.L1149V	ENST00000192788.5	37	c.3445	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	0.102	-1.150368	0.01700	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08634	3.07;3.07	5.23	2.43	0.29744	.	0.740327	0.12901	N	0.429795	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.16896	T	0.51	-3.2589	7.1968	0.25858	0.0:0.7057:0.1438:0.1505	.	1149	Q6BDS2	URFB1_HUMAN	V	1149	ENSP00000192788:L1149V;ENSP00000400628:L1149V	ENSP00000192788:L1149V	L	+	1	0	UHRF1BP1	34943012	0.991000	0.36638	0.637000	0.29366	0.120000	0.20174	3.031000	0.49728	0.278000	0.22164	-0.768000	0.03414	CTT	UHRF1BP1	-	NULL		0.428	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34835034	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	0.414	G	G	34835034	C	G	34835034	3	3	160	1	0	0	0	0	1	0	0	0	16999	913	32	1	3507	1	UHRF1BP1	6	34835034	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	43957	34835034	136280033	831	29104										
TAF11	6882	genome.wustl.edu	37	chr6	34855587	34855587	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccttcctccgctgcagcttCtttcaagtccacatctgcgt	7	16	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:34855587C>G	ENST00000361288.4	-	1	279	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	ANKS1A_ENST00000535627.1_5'Flank|ANKS1A_ENST00000360359.3_5'Flank|TAF11_ENST00000420584.2_Missense_Mutation_p.E50Q	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	50					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GCTGCAGCTTCTTTCAAGTCC	0.587																																																	0													156	159	158					6																	34855587		2203	4300	6503	SO:0001583	missense	6882			X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.148G>C	6.37:g.34855587C>G	ENSP00000354633:p.Glu50Gln		B2R8R3|B4DY18|Q9UHS0	Missense_Mutation	SNP	pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.E50Q	ENST00000361288.4	37	c.148	CCDS4797.1	6	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055421	0.36277	.	.	ENSG00000064995	ENST00000361288;ENST00000420584	T;T	0.51071	1.36;0.72	4.49	3.61	0.41365	.	0.265613	0.36101	N	0.002797	T	0.46833	0.1413	L	0.50333	1.59	0.43187	D	0.995019	D;D	0.71674	0.998;0.993	D;D	0.78314	0.991;0.979	T	0.39781	-0.9597	10	0.30854	T	0.27	.	9.9961	0.41900	0.2016:0.7984:0.0:0.0	.	50;50	B4DY18;Q15544	.;TAF11_HUMAN	Q	50	ENSP00000354633:E50Q;ENSP00000408121:E50Q	ENSP00000354633:E50Q	E	-	1	0	TAF11	34963565	1.000000	0.71417	0.849000	0.33467	0.002000	0.02628	3.281000	0.51685	1.473000	0.48159	-0.282000	0.10007	GAA	TAF11	-	NULL		0.587	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF11	HGNC	protein_coding	OTTHUMT00000040259.1	C	NM_005643		34855587	-1	no_errors	ENST00000361288	ensembl	human	known	70_37	missense	SNP	0.913	G	G	34855587	C	G	34855587	3	3	160	1	0	0	0	0	1	0	0	0	15545	922	32	1	507	1	TAF11	6	34855587	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	20553	34855587	136259480	832	29105										
PPARD	5467	genome.wustl.edu	37	chr6	35392162	35392162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagagaaggggctggtgtgGaagcagttggtgaatggcct	19	5	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:35392162G>C	ENST00000311565.4	+	8	1033	c.684G>C	c.(682-684)tgG>tgC	p.W228C	PPARD_ENST00000540939.1_Missense_Mutation_p.W125C|PPARD_ENST00000337400.2_Missense_Mutation_p.W228C|PPARD_ENST00000360694.3_Missense_Mutation_p.W228C|PPARD_ENST00000418635.2_Missense_Mutation_p.W130C|PPARD_ENST00000448077.2_Missense_Mutation_p.W189C|PPARD_ENST00000444397.1_Missense_Mutation_p.W228C	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	228					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCTGGTGTGGAAGCAGTTGG	0.602																																																	0													59	55	56					6																	35392162		2203	4300	6503	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.684G>C	6.37:g.35392162G>C	ENSP00000310928:p.Trp228Cys		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt	p.W228C	ENST00000311565.4	37	c.684	CCDS4803.1	6	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544070	0.45280	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);	0.059884	0.64402	D	0.000001	T	0.67258	0.2874	L	0.33293	1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;P;D;P	0.71870	0.975;0.893;0.946;0.855	T	0.59815	-0.7383	10	0.20046	T	0.44	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	130;189;228;228	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	C	189;228;130;228;228;228;125	ENSP00000414372:W189C;ENSP00000353916:W228C;ENSP00000413314:W130C;ENSP00000410837:W228C;ENSP00000310928:W228C;ENSP00000337063:W228C;ENSP00000443759:W125C	ENSP00000310928:W228C	W	+	3	0	PPARD	35500140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.311000	0.72835	2.767000	0.95098	0.655000	0.94253	TGG	PPARD	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt_B,prints_1Cnucl_rcpt_A		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	G	NM_006238		35392162	1	no_errors	ENST00000311565	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35392162	G	C	35392162	3	2	160	1	0	0	0	0	1	0	0	0	12322	1183	41	1	719	1	PPARD	6	35392162	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	536575	35392162	135722905	833	29106										
CLPS	1208	genome.wustl.edu	37	chr6	35762944	35762944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactgcttggagcgtccagcGtcatggcagatgccaaagtt	12	11	1	1	rs573352598		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:35762944G>A	ENST00000259938.2	-	3	340	c.318C>T	c.(316-318)gaC>gaT	p.D106D		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	106					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						AGCGTCCAGCGTCATGGCAGA	0.597																																					Melanoma(167;2962 3494 37796)												0													271	175	208					6																	35762944		2203	4300	6503	SO:0001819	synonymous_variant	1208				CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.318C>T	6.37:g.35762944G>A			Q5T9G7|Q5U809	Silent	SNP	pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase	p.D106	ENST00000259938.2	37	c.318	CCDS4811.1	6																																																																																			CLPS	-	pfam_Colipase_C,smart_Colipase,prints_Colipase		0.597	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPS	HGNC	protein_coding	OTTHUMT00000040312.1	G	NM_001832		35762944	-1	no_errors	ENST00000259938	ensembl	human	known	70_37	silent	SNP	0.008	A	A	35762944	G	A	35762944	2	1	160	1	0	0	0	0	0	0	0	1	3558	1136	40	2		2	CLPS	6	35762944	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	370782	35762944	135352123	834	29107										
STK38	11329	genome.wustl.edu	37	chr6	36475283	36475283	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgttaccacttactgaaatCactggggaggctgtggttca	11	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:36475283C>T	ENST00000229812.7	-	8	1051	c.766G>A	c.(766-768)Gat>Aat	p.D256N		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTACTGAAATCACTGGGGAGG	0.413																																					Colon(180;997 3561 16158)												0													278	294	288					6																	36475283		2203	4300	6503	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.766G>A	6.37:g.36475283C>T	ENSP00000229812:p.Asp256Asn			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.D256N	ENST00000229812.7	37	c.766	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.295705	0.95574	.	.	ENSG00000112079	ENST00000229812	T	0.60920	0.15	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.31526	0.94	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.60105	-0.7328	10	0.45353	T	0.12	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	256	Q15208	STK38_HUMAN	N	256	ENSP00000229812:D256N	ENSP00000229812:D256N	D	-	1	0	STK38	36583261	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.743000	0.85020	2.733000	0.93635	0.591000	0.81541	GAT	STK38	-	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		0.413	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	C	NM_007271		36475283	-1	no_errors	ENST00000229812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36475283	C	T	36475283	3	4	160	1	0	0	0	0	1	0	0	0	15333	826	29	1	659	1	STK38	6	36475283	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	712339	36475283	134639784	835	29108										
DNAH8	1769	genome.wustl.edu	37	chr6	38790648	38790648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctattcctgcgaggaagctGaagaatttttacccgggggt	13	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:38790648G>A	ENST00000359357.3	+	25	3161	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L1186L|DNAH8_ENST00000441566.1_Silent_p.L969L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	969					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAGGAAGCTGAAGAATTTTT	0.373																																																	0													46	47	47					6																	38790648		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2907G>A	6.37:g.38790648G>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L969	ENST00000359357.3	37	c.2907		6																																																																																			DNAH8	-	NULL		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38790648	1	no_errors	ENST00000359357	ensembl	human	known	70_37	silent	SNP	1.000	A	A	38790648	G	A	38790648	2	1	160	1	0	0	0	0	0	0	0	1	4617	1277	45	1		1	DNAH8	6	38790648	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2315365	38790648	132324419	836	29109										
DAAM2	23500	genome.wustl.edu	37	chr6	39835530	39835530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtgctggagatcctgggtGctgtgtgcctcgtgcctggt	16	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:39835530G>A	ENST00000398904.2	+	6	855	c.673G>A	c.(673-675)Gct>Act	p.A225T	DAAM2_ENST00000538976.1_Missense_Mutation_p.A225T|DAAM2_ENST00000274867.4_Missense_Mutation_p.A225T			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	225	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GATCCTGGGTGCTGTGTGCCT	0.607																																																	0													29	31	30					6																	39835530		2197	4295	6492	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.673G>A	6.37:g.39835530G>A	ENSP00000381876:p.Ala225Thr		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A225T	ENST00000398904.2	37	c.673	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.623415	0.96660	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.90504	-2.68;-2.68;-2.68	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96558	0.9413	10	0.87932	D	0	.	19.0465	0.93022	0.0:0.0:1.0:0.0	.	225;225	G5EA45;Q86T65	.;DAAM2_HUMAN	T	225	ENSP00000274867:A225T;ENSP00000381876:A225T;ENSP00000437808:A225T	ENSP00000274867:A225T	A	+	1	0	DAAM2	39943508	1.000000	0.71417	0.393000	0.26258	0.987000	0.75469	9.869000	0.99810	2.587000	0.87381	0.561000	0.74099	GCT	DAAM2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	G			39835530	1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39835530	G	A	39835530	3	1	160	1	0	0	0	0	1	0	0	0	4221	1319	46	4	691	4	DAAM2	6	39835530	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1044882	39835530	131279537	837	29110										
NCR2	9436	genome.wustl.edu	37	chr6	41318486	41318486	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaaagccacctgccaccttCaacaggtcacggaccttccc	6	17	2	0	rs142822107		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41318486C>G	ENST00000373089.5	+	5	803	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	239					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTGCCaccttcaacaggtcac	0.493																																																	0													108	97	101					6																	41318486		2203	4300	6503	SO:0001583	missense	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.715C>G	6.37:g.41318486C>G	ENSP00000362181:p.Gln239Glu		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Q239E	ENST00000373089.5	37	c.715	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536384	0.13188	.	.	ENSG00000096264	ENST00000373089	T	0.14266	2.52	2.37	-2.15	0.07102	.	.	.	.	.	T	0.02083	0.0065	N	0.19112	0.55	0.09310	N	1	B	0.28850	0.225	B	0.23275	0.045	T	0.42849	-0.9427	9	0.87932	D	0	.	4.1763	0.10353	0.5831:0.2821:0.0:0.1348	.	239	O95944	NCTR2_HUMAN	E	239	ENSP00000362181:Q239E	ENSP00000362181:Q239E	Q	+	1	0	NCR2	41426464	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.749000	0.04813	-0.611000	0.05709	0.655000	0.94253	CAA	NCR2	-	NULL		0.493	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	C			41318486	1	no_errors	ENST00000373089	ensembl	human	known	70_37	missense	SNP	0.000	G	G	41318486	C	G	41318486	3	3	160	1	0	0	0	0	1	0	0	0	10262	827	29	1	733	1	NCR2	6	41318486	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1482956	41318486	129796581	838	29111										
TFEB	7942	genome.wustl.edu	37	chr6	41658858	41658858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgctgctgctgcatgtaatGcatgacagcctgttgctgca	11	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41658858G>A	ENST00000230323.4	-	3	395	c.94C>T	c.(94-96)Cat>Tat	p.H32Y	TFEB_ENST00000420312.1_Missense_Mutation_p.H32Y|TFEB_ENST00000358871.2_Missense_Mutation_p.H46Y|TFEB_ENST00000373033.1_Missense_Mutation_p.H32Y|TFEB_ENST00000394283.1_Missense_Mutation_p.H32Y|TFEB_ENST00000403298.4_Missense_Mutation_p.H32Y	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	32	Gln-rich.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			tgcATGTAATGCATGACAGCC	0.647			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																												Dom	yes		6	6p21	7942	transcription factor EB		"E,M"	0													18	15	16					6																	41658858		2194	4289	6483	SO:0001583	missense	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.94C>T	6.37:g.41658858G>A	ENSP00000230323:p.His32Tyr	902	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.H32Y	ENST00000230323.4	37	c.94	CCDS4858.1	6	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689142	0.48097	.	.	ENSG00000112561	ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140;ENST00000419574;ENST00000424495;ENST00000445214;ENST00000419788;ENST00000425401	T;T;T;T;T;T;T;T;T;T	0.43688	1.87;1.89;1.89;1.89;1.84;1.89;0.94;0.94;0.94;1.48	5.09	4.2	0.49525	.	0.332724	0.31427	N	0.007675	T	0.16938	0.0407	L	0.34521	1.04	0.21527	N	0.999651	B;B;B;B	0.26975	0.165;0.072;0.072;0.118	B;B;B;B	0.31245	0.094;0.059;0.04;0.126	T	0.13124	-1.0521	10	0.72032	D	0.01	-11.5782	9.63	0.39774	0.0:0.1539:0.6869:0.1593	.	118;46;32;32	B0QYS7;B0QYS6;P19484;P19484-2	.;.;TFEB_HUMAN;.	Y	118;32;46;32;32;32;32;32;32;32;32;32;32;32	ENSP00000343948:H118Y;ENSP00000230323:H32Y;ENSP00000351742:H46Y;ENSP00000384203:H32Y;ENSP00000412551:H32Y;ENSP00000362124:H32Y;ENSP00000377824:H32Y;ENSP00000410391:H32Y;ENSP00000406491:H32Y;ENSP00000400276:H32Y	ENSP00000230323:H32Y	H	-	1	0	TFEB	41766836	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.739000	0.68622	1.103000	0.41568	0.455000	0.32223	CAT	TFEB	-	NULL		0.647	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFEB	HGNC	protein_coding	OTTHUMT00000040522.3	G			41658858	-1	no_errors	ENST00000230323	ensembl	human	known	70_37	missense	SNP	0.999	A	A	41658858	G	A	41658858	3	1	160	1	0	0	0	0	1	0	0	0	15831	1319	46	4	1368	4	TFEB	6	41658858	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	340372	41658858	129456209	839	29112										
FRS3	10817	genome.wustl.edu	37	chr6	41738419	41738419	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgccatcgtctcggggcaGagctctctgcaggttggaca	15	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:41738419G>A	ENST00000373018.3	-	7	1668	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	FRS3_ENST00000259748.2_Silent_p.L473L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	473					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCGGGGCAGAGCTCTCTGC	0.632																																																	0													102	96	98					6																	41738419		2203	4300	6503	SO:0001819	synonymous_variant	10817			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1417C>T	6.37:g.41738419G>A			Q5T3D5	Silent	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.L473	ENST00000373018.3	37	c.1417	CCDS4860.1	6																																																																																			FRS3	-	NULL		0.632	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	G	NM_006653		41738419	-1	no_errors	ENST00000259748	ensembl	human	known	70_37	silent	SNP	1.000	A	A	41738419	G	A	41738419	2	1	160	1	0	0	0	0	0	0	0	1	6080	933	33	1		1	FRS3	6	41738419	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	79561	41738419	129376648	840	29113										
CUL7	9820	genome.wustl.edu	37	chr6	43017742	43017742	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggatctggagaacctcctGatggtcaggtccatccagct	12	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43017742G>C	ENST00000265348.3	-	6	1613	c.1528C>G	c.(1528-1530)Cag>Gag	p.Q510E	CUL7_ENST00000535468.1_Missense_Mutation_p.Q594E|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	510					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAACCTCCTGATGGTCAGGT	0.562																																																	0													117	108	111					6																	43017742		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1528C>G	6.37:g.43017742G>C	ENSP00000265348:p.Gln510Glu		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q594E	ENST00000265348.3	37	c.1780	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893553	0.33442	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.63255	-0.03;-0.03	5.12	4.19	0.49359	.	0.299406	0.33834	N	0.004511	T	0.35038	0.0918	L	0.38838	1.175	0.80722	D	1	B;B	0.18013	0.018;0.025	B;B	0.20384	0.029;0.012	T	0.23940	-1.0174	10	0.30078	T	0.28	-8.8866	11.1716	0.48575	0.0:0.2311:0.6423:0.1266	.	594;510	F5H0L1;Q14999	.;CUL7_HUMAN	E	510;594	ENSP00000265348:Q510E;ENSP00000438788:Q594E	ENSP00000265348:Q510E	Q	-	1	0	CUL7	43125720	0.994000	0.37717	0.160000	0.22671	0.829000	0.46940	2.091000	0.41691	2.395000	0.81488	0.655000	0.94253	CAG	CUL7	-	NULL		0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43017742	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	0.986	C	C	43017742	G	C	43017742	3	2	160	1	0	0	0	0	1	0	0	0	4065	1299	45	1	3652	1	CUL7	6	43017742	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1279323	43017742	128097325	841	29114										
CUL7	9820	genome.wustl.edu	37	chr6	43017776	43017776	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccagcttcttgatgaagaaGaggagttcccaccactcagc	9	12	2	4	rs200634785		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43017776G>C	ENST00000265348.3	-	6	1579	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	CUL7_ENST00000535468.1_Silent_p.L582L|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	498					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGATGAAGAAGAGGAGTTCCC	0.552																																																	0													117	107	110					6																	43017776		2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1494C>G	6.37:g.43017776G>C			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L582	ENST00000265348.3	37	c.1746	CCDS4881.1	6																																																																																			CUL7	-	NULL		0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43017776	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	silent	SNP	0.988	C	C	43017776	G	C	43017776	2	2	160	1	0	0	0	0	0	0	0	1	4065	929	33	1		1	CUL7	6	43017776	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	34	43017776	128097291	842	29115										
CUL7	9820	genome.wustl.edu	37	chr6	43018878	43018878	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacgagggcgaaaacgtcttGacctcctgaaggagggctga	14	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43018878G>T	ENST00000265348.3	-	4	1146	c.1061C>A	c.(1060-1062)tCa>tAa	p.S354*	CUL7_ENST00000535468.1_Nonsense_Mutation_p.S438*|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	354					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AAAACGTCTTGACCTCCTGAA	0.612																																																	0													88	85	86					6																	43018878		2203	4300	6503	SO:0001587	stop_gained	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1061C>A	6.37:g.43018878G>T	ENSP00000265348:p.Ser354*		B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S438*	ENST00000265348.3	37	c.1313	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.866021	0.97043	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.39	4.46	0.54185	.	0.834336	0.10513	N	0.665920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4096	12.2196	0.54428	0.0:0.0:0.7177:0.2823	.	.	.	.	X	354;438	.	ENSP00000265348:S354X	S	-	2	0	CUL7	43126856	0.618000	0.27051	0.997000	0.53966	0.955000	0.61496	1.779000	0.38624	2.533000	0.85409	0.563000	0.77884	TCA	CUL7	-	NULL		0.612	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43018878	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	nonsense	SNP	0.981	T	T	43018878	G	T	43018878	4	4	160	1	0	0	0	0	0	1	0	0	4065	1294	45	3	4127	3	CUL7	6	43018878	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1102	43018878	128096189	843	29116										
CUL9	23113	genome.wustl.edu	37	chr6	43153911	43153911	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgggctgggcccggaacctCagcgaacagggcatgtcacc	14	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43153911C>T	ENST00000252050.4	+	4	1053	c.969C>T	c.(967-969)ctC>ctT	p.L323L	CUL9_ENST00000372647.2_Silent_p.L323L|CUL9_ENST00000354495.3_Silent_p.L323L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	323					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGAACCTCAGCGAACAGG	0.607																																																	0													103	97	99					6																	43153911		2203	4300	6503	SO:0001819	synonymous_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.969C>T	6.37:g.43153911C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.L323	ENST00000252050.4	37	c.969	CCDS4890.1	6																																																																																			CUL9	-	NULL		0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43153911	1	no_errors	ENST00000252050	ensembl	human	known	70_37	silent	SNP	0.959	T	T	43153911	C	T	43153911	2	4	160	1	0	0	0	0	0	0	0	1	4066	813	29	1		1	CUL9	6	43153911	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	135033	43153911	127961156	844	29117										
CUL9	23113	genome.wustl.edu	37	chr6	43164388	43164388	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctccctcctcccaggtgctCttctgcagcgagaaatggct	9	16	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43164388C>T	ENST00000252050.4	+	11	2675	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F	CUL9_ENST00000372647.2_Missense_Mutation_p.S864F|CUL9_ENST00000354495.3_Missense_Mutation_p.S754F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	864					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCAGGTGCTCTTCTGCAGCG	0.522																																																	0													167	161	163					6																	43164388		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2591C>T	6.37:g.43164388C>T	ENSP00000252050:p.Ser864Phe		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.S864F	ENST00000252050.4	37	c.2591	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171907	0.57584	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73789	-0.78;-0.78;-0.68	5.61	4.73	0.59995	Armadillo-type fold (1);	0.390400	0.28047	N	0.016808	T	0.72859	0.3513	L	0.40543	1.245	0.33000	D	0.526088	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.71184	0.931;0.972;0.972	T	0.77153	-0.2692	10	0.87932	D	0	-16.0557	12.4175	0.55502	0.0:0.8309:0.1691:0.0	.	754;864;864	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	F	864;754;864	ENSP00000252050:S864F;ENSP00000346490:S754F;ENSP00000361730:S864F	ENSP00000252050:S864F	S	+	2	0	CUL9	43272366	0.997000	0.39634	0.998000	0.56505	0.754000	0.42855	1.280000	0.33202	1.349000	0.45751	0.655000	0.94253	TCT	CUL9	-	superfamily_ARM-type_fold		0.522	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43164388	1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	0.996	T	T	43164388	C	T	43164388	3	4	160	1	0	0	0	0	1	0	0	0	4066	913	32	1	2629	1	CUL9	6	43164388	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	10477	43164388	127950679	845	29118										
ABCC10	89845	genome.wustl.edu	37	chr6	43400097	43400097	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtgttggcacattcccctCatggccactcccggggtccc	12	16	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43400097C>G	ENST00000372530.4	+	3	594	c.379C>G	c.(379-381)Cat>Gat	p.H127D	ABCC10_ENST00000244533.3_Missense_Mutation_p.H84D|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	127					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ACATTCCCCTCATGGCCACTC	0.652																																																	0													60	58	58					6																	43400097		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.379C>G	6.37:g.43400097C>G	ENSP00000361608:p.His127Asp		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H127D	ENST00000372530.4	37	c.379	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214688	0.06101	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.41758	0.99;0.99	5.81	1.89	0.25635	.	0.552015	0.20280	N	0.095464	T	0.08846	0.0219	N	0.24115	0.695	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.23716	0.048;0.021	T	0.16630	-1.0396	10	0.30854	T	0.27	-16.1396	3.0208	0.06075	0.1147:0.5129:0.1119:0.2605	.	84;127	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	127;84	ENSP00000361608:H127D;ENSP00000244533:H84D	ENSP00000244533:H84D	H	+	1	0	ABCC10	43508075	0.000000	0.05858	0.096000	0.21009	0.236000	0.25371	-0.335000	0.07873	0.817000	0.34445	0.462000	0.41574	CAT	ABCC10	-	NULL		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43400097	1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	0.000	G	G	43400097	C	G	43400097	3	3	160	1	0	0	0	0	1	0	0	0	50	826	29	1	252	1	ABCC10	6	43400097	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	235709	43400097	127714970	846	29119										
YIPF3	25844	genome.wustl.edu	37	chr6	43483734	43483734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgcatcagcgtctacttCttcctcgcgcaggcgctgat	10	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43483734C>T	ENST00000372422.2	-	2	363	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	POLR1C_ENST00000372389.3_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.E67K|POLR1C_ENST00000372344.2_5'Flank|POLR1C_ENST00000304004.3_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	61					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCGTCTACTTCTTCCTCGCGC	0.577																																																	0													89	82	85					6																	43483734		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.181G>A	6.37:g.43483734C>T	ENSP00000361499:p.Glu61Lys		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	NULL	p.E61K	ENST00000372422.2	37	c.181	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	C	37	5.988126	0.97179	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T	0.50813	0.73;0.74;0.74	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.57536	1.79	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.994	D;D;P	0.76071	0.915;0.987;0.877	T	0.58470	-0.7631	10	0.51188	T	0.08	-11.7269	18.009	0.89217	0.0:1.0:0.0:0.0	.	61;67;61	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	K	61;61;67;61;26	ENSP00000361499:E61K;ENSP00000425494:E67K;ENSP00000421461:E61K	ENSP00000259737:E61K	E	-	1	0	YIPF3	43591712	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.359000	0.66074	2.687000	0.91594	0.460000	0.39030	GAA	YIPF3	-	NULL		0.577	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	C	NM_015388		43483734	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43483734	C	T	43483734	3	4	160	1	0	0	0	0	1	0	0	0	17510	922	32	1	903	1	YIPF3	6	43483734	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	83637	43483734	127631333	847	29120										
XPO5	57510	genome.wustl.edu	37	chr6	43492253	43492253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgaattggtcctttcggcGcttgtcagccactttctgca	9	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43492253G>A	ENST00000265351.7	-	31	3643	c.3433C>T	c.(3433-3435)Cgc>Tgc	p.R1145C	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1145					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCCTTTCGGCGCTTGTCAGCC	0.483																																																	0													108	111	110					6																	43492253		1920	4117	6037	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3433C>T	6.37:g.43492253G>A	ENSP00000265351:p.Arg1145Cys		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R1145C	ENST00000265351.7	37	c.3433	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480743	0.84747	.	.	ENSG00000124571	ENST00000265351;ENST00000372258;ENST00000439465	T	0.67523	-0.27	6.06	5.18	0.71444	Armadillo-type fold (1);	0.115168	0.64402	D	0.000016	T	0.65842	0.2730	L	0.57536	1.79	0.54753	D	0.999986	D	0.89917	1.0	P	0.54706	0.759	T	0.70575	-0.4834	10	0.56958	D	0.05	-12.6503	14.3208	0.66484	0.0:0.0:0.7296:0.2704	.	1145	Q9HAV4	XPO5_HUMAN	C	1145;685;773	ENSP00000265351:R1145C	ENSP00000265351:R1145C	R	-	1	0	XPO5	43600231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.509000	0.67012	1.550000	0.49438	0.655000	0.94253	CGC	XPO5	-	superfamily_ARM-type_fold		0.483	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	G	NM_020750		43492253	-1	no_errors	ENST00000265351	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43492253	G	A	43492253	3	1	160	1	0	0	0	0	1	0	0	0	17478	1087	38	2	189	2	XPO5	6	43492253	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8519	43492253	127622814	848	29121										
C6orf223	221416	genome.wustl.edu	37	chr6	43970504	43970504	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcgcgggccggtagagcgcGcggcggcggcggcggcggcg	23	14	0	1	rs571541469		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:43970504G>C	ENST00000336600.5	+	4	390	c.370G>C	c.(370-372)Gcg>Ccg	p.A124P	C6orf223_ENST00000442114.2_Missense_Mutation_p.A104P|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	124	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggc	0.776																																																	0													4	5	5					6																	43970504		1970	3961	5931	SO:0001583	missense	221416			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.370G>C	6.37:g.43970504G>C	ENSP00000426159:p.Ala124Pro		E9PB59|Q8N575	Missense_Mutation	SNP	NULL	p.A124P	ENST00000336600.5	37	c.370	CCDS34459.1	6	.	.	.	.	.	.	.	.	.	.	G	7.885	0.730989	0.15507	.	.	ENSG00000181577	ENST00000336600	T	0.39787	1.06	.	.	.	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.24382	N	0.994785	.	.	.	.	.	.	T	0.25984	-1.0116	5	0.87932	D	0	.	.	.	.	.	124	Q8N319	CF223_HUMAN	P	124	ENSP00000426159:A124P	ENSP00000426159:A124P	A	+	1	0	C6orf223	44078482	0.946000	0.32159	0.167000	0.22817	0.312000	0.27988	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCG	C6orf223	-	NULL		0.776	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	HGNC	protein_coding	OTTHUMT00000040702.3	G	NM_153246		43970504	1	no_errors	ENST00000336600	ensembl	human	known	70_37	missense	SNP	0.161	C	C	43970504	G	C	43970504	3	2	160	1	0	0	0	0	1	0	0	0	2362	1087	38	2	427	2	C6orf223	6	43970504	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	478251	43970504	127144563	849	29122										
NFKBIE	4794	genome.wustl.edu	37	chr6	44233056	44233056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtactggctctcctccgcctCgtccggccccttccgcgcct	9	21	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:44233056C>T	ENST00000275015.5	-	1	444	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	149					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCTCCGCCTCGTCCGGCCCC	0.736																																																	0													5	8	7					6																	44233056		1937	3975	5912	SO:0001583	missense	4794			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.445G>A	6.37:g.44233056C>T	ENSP00000275015:p.Glu149Lys		Q5T9V9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E149K	ENST00000275015.5	37	c.445	CCDS34463.1	6	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838138	0.91117	.	.	ENSG00000146232	ENST00000275015	T	0.32023	1.47	4.87	4.87	0.63330	.	0.486350	0.21051	N	0.080992	T	0.11239	0.0274	L	0.32530	0.975	0.35313	D	0.784081	P	0.43352	0.804	B	0.31101	0.124	T	0.08351	-1.0726	10	0.51188	T	0.08	-30.5623	14.725	0.69339	0.0:1.0:0.0:0.0	.	149	O00221	IKBE_HUMAN	K	149	ENSP00000275015:E149K	ENSP00000275015:E149K	E	-	1	0	NFKBIE	44341034	0.996000	0.38824	1.000000	0.80357	0.955000	0.61496	1.499000	0.35671	2.251000	0.74343	0.462000	0.41574	GAG	NFKBIE	-	NULL		0.736	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIE	HGNC	protein_coding	OTTHUMT00000040733.2	C			44233056	-1	no_errors	ENST00000275015	ensembl	human	known	70_37	missense	SNP	0.984	T	T	44233056	C	T	44233056	3	4	160	1	0	0	0	0	1	0	0	0	10404	893	31	1	1081	1	NFKBIE	6	44233056	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	262552	44233056	126882011	850	29123										
CDC5L	988	genome.wustl.edu	37	chr6	44387271	44387271	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgcatgagagtgacttctCaggtgtaactccacagcgac	10	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:44387271C>G	ENST00000371477.3	+	9	1477	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	393	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGACTTCTCAGGTGTAACT	0.428																																																	0													160	141	147					6																	44387271		2203	4300	6503	SO:0001587	stop_gained	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1178C>G	6.37:g.44387271C>G	ENSP00000360532:p.Ser393*		Q76N46|Q99974	Nonsense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S393*	ENST00000371477.3	37	c.1178	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.435743	0.98810	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.57	5.57	0.84162	.	0.113928	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.5338	19.5372	0.95257	0.0:1.0:0.0:0.0	.	.	.	.	X	393	.	ENSP00000360532:S393X	S	+	2	0	CDC5L	44495249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.993000	0.63895	2.609000	0.88269	0.563000	0.77884	TCA	CDC5L	-	pfam_DUF3351		0.428	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	C			44387271	1	no_errors	ENST00000371477	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	44387271	C	G	44387271	4	3	160	1	0	0	0	0	0	1	0	0	3087	838	29	1	1212	1	CDC5L	6	44387271	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	154215	44387271	126727796	851	29124										
ENPP4	22875	genome.wustl.edu	37	chr6	46111060	46111060	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcctagtatgcatccatttCtagctgcccacggacctgca	8	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:46111060C>G	ENST00000321037.4	+	4	1275	c.1045C>G	c.(1045-1047)Cta>Gta	p.L349V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	349					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCATCCATTTCTAGCTGCCCA	0.383																																																	0													151	142	145					6																	46111060		2203	4299	6502	SO:0001583	missense	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1045C>G	6.37:g.46111060C>G	ENSP00000318066:p.Leu349Val		A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L349V	ENST00000321037.4	37	c.1045	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590997	0.66219	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.79749	-1.3	5.9	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.121890	0.64402	D	0.000019	T	0.81517	0.4839	M	0.76574	2.34	0.51767	D	0.999939	D	0.59767	0.986	P	0.53450	0.726	D	0.84681	0.0717	10	0.87932	D	0	-12.7652	13.0024	0.58683	0.0:0.919:0.0:0.081	.	349	Q9Y6X5	ENPP4_HUMAN	V	349	ENSP00000318066:L349V	ENSP00000318066:L349V	L	+	1	2	ENPP4	46219019	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.169000	0.31871	1.407000	0.46875	0.650000	0.86243	CTA	ENPP4	-	superfamily_Alkaline_phosphatase_core		0.383	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	C			46111060	1	no_errors	ENST00000321037	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46111060	C	G	46111060	3	3	160	1	0	0	0	0	1	0	0	0	5144	912	32	1	1055	1	ENPP4	6	46111060	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1723789	46111060	125004007	852	29125										
CENPQ	55166	genome.wustl.edu	37	chr6	49456095	49456095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataaaatggtagagaccacaGagttaatgactgggaatatt	10	4	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:49456095G>A	ENST00000335783.3	+	7	602	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	170					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AGAGACCACAGAGTTAATGAC	0.308																																																	0													65	70	68					6																	49456095		2203	4297	6500	SO:0001583	missense	55166			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.508G>A	6.37:g.49456095G>A	ENSP00000337289:p.Glu170Lys		A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	NULL	p.E170K	ENST00000335783.3	37	c.508	CCDS4925.1	6	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555839	0.45487	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.51325	0.71	5.73	3.81	0.43845	.	0.329934	0.30101	N	0.010412	T	0.49012	0.1532	M	0.71581	2.175	0.09310	N	0.999997	D	0.63046	0.992	P	0.62740	0.906	T	0.39482	-0.9612	10	0.66056	D	0.02	-5.626	8.932	0.35677	0.0:0.163:0.668:0.169	.	170	Q7L2Z9	CENPQ_HUMAN	K	170	ENSP00000337289:E170K	ENSP00000337289:E170K	E	+	1	0	CENPQ	49564054	0.965000	0.33210	0.079000	0.20413	0.348000	0.29142	2.405000	0.44548	1.542000	0.49330	0.644000	0.83932	GAG	CENPQ	-	NULL		0.308	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPQ	HGNC	protein_coding	OTTHUMT00000040855.2	G	NM_018132		49456095	1	no_errors	ENST00000335783	ensembl	human	known	70_37	missense	SNP	0.126	A	A	49456095	G	A	49456095	3	1	160	1	0	0	0	0	1	0	0	0	3246	943	33	1	530	1	CENPQ	6	49456095	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3345035	49456095	121658972	853	29126										
PKHD1	5314	genome.wustl.edu	37	chr6	51890945	51890945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaaagctgggtccctgctGaagcctattcctgagatgct	10	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:51890945G>C	ENST00000371117.3	-	32	3938	c.3663C>G	c.(3661-3663)ttC>ttG	p.F1221L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F1221L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1221	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTCCCTGCTGAAGCCTATTC	0.473																																																	0													62	64	63					6																	51890945		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3663C>G	6.37:g.51890945G>C	ENSP00000360158:p.Phe1221Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.F1221L	ENST00000371117.3	37	c.3663	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	9.155	1.017158	0.19355	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83837	-1.77;-1.77	5.87	0.622	0.17648	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.357674	0.30667	N	0.009125	T	0.49762	0.1576	L	0.33293	1	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.26094	0.039;0.066	T	0.46965	-0.9153	10	0.44086	T	0.13	.	1.2141	0.01910	0.3417:0.1324:0.3766:0.1493	.	1221;1221	P08F94-2;P08F94	.;PKHD1_HUMAN	L	1221	ENSP00000360158:F1221L;ENSP00000341097:F1221L	ENSP00000341097:F1221L	F	-	3	2	PKHD1	51998904	0.982000	0.34865	0.002000	0.10522	0.360000	0.29518	0.220000	0.17660	-0.177000	0.10690	-0.345000	0.07892	TTC	PKHD1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51890945	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.168	C	C	51890945	G	C	51890945	3	2	160	1	0	0	0	0	1	0	0	0	11995	1281	45	1	8744	1	PKHD1	6	51890945	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2434850	51890945	119224122	854	29127										
PKHD1	5314	genome.wustl.edu	37	chr6	51921587	51921587	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctcaatggttgtttgaatCtattacaaaggaaaaaaatg	7	5	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:51921587C>G	ENST00000371117.3	-	18	1878		c.e18-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGTTTGAATCTATTACAAAG	0.438																																																	0													83	89	87					6																	51921587		2203	4300	6503	SO:0001630	splice_region_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1603-1G>C	6.37:g.51921587C>G			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	-	e17-1	ENST00000371117.3	37	c.1603-1	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727649	0.48833	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0884	0.42432	0.0:0.9074:0.0:0.0926	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	52029546	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	2.890000	0.48609	2.473000	0.83533	0.462000	0.41574	.	PKHD1	-	-		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694	Intron	51921587	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	51921587	C	G	51921587	5	3	160	1	0	0	0	0	0	0	1	0	11995	927	32	1	10861	1	PKHD1	6	51921587	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	30642	51921587	119193480	855	29128										
GSTA3	2940	genome.wustl.edu	37	chr6	52764836	52764836	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcagaagaaggatcatttCattcaaatctgccatacctt	8	9	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:52764836C>G	ENST00000211122.3	-	5	375	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	GSTA3_ENST00000370968.1_Missense_Mutation_p.E54Q	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	104	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGGATCATTTCATTCAAATCT	0.378																																																	0													138	126	130					6																	52764836		2203	4300	6503	SO:0001583	missense	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.310G>C	6.37:g.52764836C>G	ENSP00000211122:p.Glu104Gln		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E104Q	ENST00000211122.3	37	c.310	CCDS4947.1	6	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855383	0.32791	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.06687	4.48;4.48;3.27	3.91	3.91	0.45181	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.126216	0.51477	D	0.000100	T	0.12944	0.0314	M	0.69463	2.115	0.28155	N	0.929245	D	0.62365	0.991	P	0.62298	0.9	T	0.00945	-1.1505	10	0.49607	T	0.09	.	12.7996	0.57578	0.0:0.8339:0.1661:0.0	.	104	Q16772	GSTA3_HUMAN	Q	54;104;54	ENSP00000360007:E54Q;ENSP00000211122:E104Q;ENSP00000399142:E54Q	ENSP00000211122:E104Q	E	-	1	0	GSTA3	52872795	0.003000	0.15002	0.059000	0.19551	0.057000	0.15508	1.569000	0.36428	2.168000	0.68352	0.591000	0.81541	GAA	GSTA3	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.378	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	C			52764836	-1	no_errors	ENST00000211122	ensembl	human	known	70_37	missense	SNP	0.974	G	G	52764836	C	G	52764836	3	3	160	1	0	0	0	0	1	0	0	0	6852	835	29	1	370	1	GSTA3	6	52764836	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	843249	52764836	118350231	856	29129										
C6orf142	90523	genome.wustl.edu	37	chr6	54095557	54095557	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctcgctccatcctttatatCagactaaactctatcctcct	2	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:54095557C>T	ENST00000274897.5	+	11	1272	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Nonsense_Mutation_p.Q922*	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	387						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCCTTTATATCAGACTAAACT	0.493																																																	0													312	292	299					6																	54095557		2203	4300	6503	SO:0001587	stop_gained	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1159C>T	6.37:g.54095557C>T	ENSP00000274897:p.Gln387*		B7Z2N0|D6RE05|Q96H08|Q96NF7	Nonsense_Mutation	SNP	NULL	p.Q387*	ENST00000274897.5	37	c.1159	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576660	0.86645	.	.	ENSG00000146147	ENST00000274897;ENST00000502396;ENST00000514433	.	.	.	5.41	4.45	0.53987	.	0.220414	0.29034	N	0.013350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.1015	0.53788	0.1829:0.817:0.0:0.0	.	.	.	.	X	387;922;316	.	ENSP00000274897:Q387X	Q	+	1	0	MLIP	54203516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.237000	0.43061	2.520000	0.84964	0.650000	0.86243	CAG	MLIP	-	NULL		0.493	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	C	NM_138569		54095557	1	no_errors	ENST00000274897	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	54095557	C	T	54095557	4	4	160	1	0	0	0	0	0	1	0	0	2338	827	29	1	1201	1	C6orf142	6	54095557	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1330721	54095557	117019510	857	29130										
DST	667	genome.wustl.edu	37	chr6	56465020	56465020	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctgacgctctgctacaatCtaaagtgaagaaaacccaaa	7	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:56465020C>G	ENST00000361203.3	-	41	10916		c.e41-1		DST_ENST00000312431.6_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000370788.2_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTACAATCTAAAGTGAAG	0.378																																																	0													126	119	121					6																	56465020		1841	4085	5926	SO:0001630	splice_region_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10909-1G>C	6.37:g.56465020C>G			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	-	e45-1	ENST00000361203.3	37	c.11449-1		6	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792616	0.70452	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56572979	1.000000	0.71417	0.399000	0.26333	0.756000	0.42949	7.093000	0.76937	2.878000	0.98634	0.650000	0.86243	.	DST	-	-		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723	Intron	56465020	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	56465020	C	G	56465020	5	3	160	1	0	0	0	0	0	0	1	0	4793	927	32	1	12079	1	DST	6	56465020	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2369463	56465020	114650047	858	29131										
DST	667	genome.wustl.edu	37	chr6	56504497	56504497	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaaaaaaaaaacttaccaaGagttttgcatactgactctc	4	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:56504497G>C	ENST00000361203.3	-	16	2068	c.2061C>G	c.(2059-2061)ctC>ctG	p.L687L	DST_ENST00000518935.1_Silent_p.L361L|DST_ENST00000312431.6_Silent_p.L687L|DST_ENST00000370765.6_Silent_p.L361L|DST_ENST00000446842.2_Silent_p.L361L|DST_ENST00000370754.5_Silent_p.L865L|DST_ENST00000421834.2_Silent_p.L687L|DST_ENST00000370769.4_Silent_p.L687L|DST_ENST00000244364.6_Silent_p.L361L|DST_ENST00000370788.2_Silent_p.L687L			Q03001	DYST_HUMAN	dystonin	687					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTACCAAGAGTTTTGCAT	0.313																																																	0													117	133	127					6																	56504497		2202	4297	6499	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2061C>G	6.37:g.56504497G>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L865	ENST00000361203.3	37	c.2595		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56504497	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	0.907	C	C	56504497	G	C	56504497	2	2	160	1	0	0	0	0	0	0	0	1	4793	929	33	1		1	DST	6	56504497	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	39477	56504497	114610570	859	29132										
RAB23	51715	genome.wustl.edu	37	chr6	57061377	57061377	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagattccctatctgtggtaGagaacacgagcacacaagcc	9	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:57061377G>C	ENST00000317483.3	-	4	888	c.269C>G	c.(268-270)tCt>tGt	p.S90C	RAB23_ENST00000468148.1_Missense_Mutation_p.S90C	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	90					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCTGTGGTAGAGAACACGAG	0.378																																																	0													89	77	81					6																	57061377		2203	4300	6503	SO:0001583	missense	51715			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"RAB, member RAS oncogene"	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.269C>G	6.37:g.57061377G>C	ENSP00000320413:p.Ser90Cys		B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S90C	ENST00000317483.3	37	c.269	CCDS4962.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.196860	0.94960	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	D;D	0.81579	-1.51;-1.51	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93388	0.6749	10	0.87932	D	0	-14.8652	20.8794	0.99867	0.0:0.0:1.0:0.0	.	90	Q9ULC3	RAB23_HUMAN	C	90	ENSP00000320413:S90C;ENSP00000417610:S90C	ENSP00000320413:S90C	S	-	2	0	RAB23	57169336	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.444000	0.97578	2.941000	0.99782	0.655000	0.94253	TCT	RAB23	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB23	HGNC	protein_coding	OTTHUMT00000041042.1	G			57061377	-1	no_errors	ENST00000317483	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57061377	G	C	57061377	3	2	160	1	0	0	0	0	1	0	0	0	12940	942	33	1	460	1	RAB23	6	57061377	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	556880	57061377	114053690	860	29133										
PHF3	23469	genome.wustl.edu	37	chr6	64394152	64394152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcaggagtgaaacaaccaGaaaggagtcaggttaaagaa	12	5	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:64394152G>C	ENST00000262043.3	+	4	869	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E177Q|PHF3_ENST00000509330.1_Missense_Mutation_p.E177Q			Q92576	PHF3_HUMAN	PHD finger protein 3	177					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAACAACCAGAAAGGAGTCA	0.418																																					GBM(135;136 1820 29512 34071 46235)												0													182	182	182					6																	64394152		2203	4300	6503	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.529G>C	6.37:g.64394152G>C	ENSP00000262043:p.Glu177Gln		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E177Q	ENST00000262043.3	37	c.529	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322966	0.23994	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T	0.50548	1.71;2.07;1.73;0.74;2.07	5.92	5.92	0.95590	.	0.508381	0.15703	N	0.248844	T	0.61476	0.2350	L	0.60455	1.87	0.49299	D	0.999771	D;D	0.76494	0.993;0.999	P;D	0.65443	0.782;0.935	T	0.61297	-0.7091	10	0.72032	D	0.01	-28.1845	20.3172	0.98658	0.0:0.0:1.0:0.0	.	177;177	Q92576;D6R9X2	PHF3_HUMAN;.	Q	89;177;130;177;177	ENSP00000425227:E89Q;ENSP00000262043:E177Q;ENSP00000424078:E130Q;ENSP00000422841:E177Q;ENSP00000377048:E177Q	ENSP00000262043:E177Q	E	+	1	0	PHF3	64452111	1.000000	0.71417	0.986000	0.45419	0.077000	0.17291	4.899000	0.63245	2.801000	0.96364	0.650000	0.86243	GAA	PHF3	-	NULL		0.418	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	G			64394152	1	no_errors	ENST00000262043	ensembl	human	known	70_37	missense	SNP	0.993	C	C	64394152	G	C	64394152	3	2	160	1	0	0	0	0	1	0	0	0	11860	943	33	1	539	1	PHF3	6	64394152	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7332775	64394152	106720915	861	29134										
EYS	346007	genome.wustl.edu	37	chr6	65301604	65301604	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggggtccttgctctcctatCaggaaaaaagaaacctagtg	10	9	2	1	rs376632836		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:65301604C>G	ENST00000370621.3	-	26	4682	c.4156G>C	c.(4156-4158)Gat>Cat	p.D1386H	EYS_ENST00000503581.1_Missense_Mutation_p.D1386H|EYS_ENST00000370616.2_Missense_Mutation_p.D1386H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1386					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTCTCCTATCAGGAAAAAAG	0.383																																																	0													68	69	68					6																	65301604		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4156G>C	6.37:g.65301604C>G	ENSP00000359655:p.Asp1386His		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1386H	ENST00000370621.3	37	c.4156		6	.	.	.	.	.	.	.	.	.	.	C	3.971	-0.008324	0.07727	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.85171	-1.95;-1.93;-1.93	4.59	-3.58	0.04597	.	.	.	.	.	T	0.63674	0.2531	N	0.14661	0.345	0.09310	N	1	D;P	0.55385	0.971;0.838	P;B	0.51170	0.661;0.358	T	0.61603	-0.7029	9	0.56958	D	0.05	.	8.5477	0.33433	0.0:0.2548:0.1182:0.627	.	1386;1386	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1386	ENSP00000424243:D1386H;ENSP00000359655:D1386H;ENSP00000359650:D1386H	ENSP00000359650:D1386H	D	-	1	0	EYS	65358325	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.789000	0.04609	-0.984000	0.03507	-0.469000	0.05056	GAT	EYS	-	NULL		0.383	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		65301604	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.000	G	G	65301604	C	G	65301604	3	3	160	1	0	0	0	0	1	0	0	0	5344	826	29	1	5195	1	EYS	6	65301604	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	907452	65301604	105813463	862	29135										
KCNQ5	56479	genome.wustl.edu	37	chr6	73879568	73879568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accacttaaaactgtcattcGagctatcaggttggtgaaaa	8	8	2	1	rs372957711		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:73879568G>A	ENST00000370398.1	+	11	1677	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R542Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R524Q|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R523Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R533Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R514Q	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	523					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACTGTCATTCGAGCTATCAGG	0.393																																					GBM(142;1375 1859 14391 23261 44706)												0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,	0,4406		0,0,2203	138	109	119		1541,1598,1625,1568,	5.5	1	6		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_019842.3,NM_001160134.1	43,43,43,43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	514/924,533/943,542/952,523/933,	73879568	1,13005	2203	4300	6503	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1568G>A	6.37:g.73879568G>A	ENSP00000359425:p.Arg523Gln		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R533Q	ENST00000370398.1	37	c.1598	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960661	0.92791	0.0	1.16E-4	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.97363	0.9971	10	0.66056	D	0.02	.	19.295	0.94118	0.0:0.0:1.0:0.0	.	533;542;514;523	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	Q	542;542;523;523;533;524;514	ENSP00000345055:R542Q;ENSP00000347326:R523Q;ENSP00000359425:R523Q;ENSP00000385501:R533Q;ENSP00000347853:R524Q;ENSP00000384453:R514Q	ENSP00000345055:R542Q	R	+	2	0	KCNQ5	73936289	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.730000	0.84881	2.726000	0.93360	0.655000	0.94253	CGA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C		0.393	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	G	NM_019842		73879568	1	no_errors	ENST00000402622	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73879568	G	A	73879568	3	1	160	1	0	0	0	0	1	0	0	0	8106	1058	37	1	1671	1	KCNQ5	6	73879568	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8577964	73879568	97235499	863	29136										
C6orf150	115004	genome.wustl.edu	37	chr6	74135210	74135210	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagaaggcagttttcacatGataagaagagaatttatcca							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:74135210G>A	ENST00000370315.3	-	5	1403	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	MB21D1_ENST00000370318.1_Missense_Mutation_p.H437Y	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	437					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GTTTTCACATGATAAGAAGAG	0.383																																																	0													70	66	67					6																	74135210		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1309C>T	6.37:g.74135210G>A	ENSP00000359339:p.His437Tyr		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	pfam_Mab-21_dom	p.H437Y	ENST00000370315.3	37	c.1309	CCDS4978.1	6	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773507	0.69992	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.10099	2.91;2.91	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.74546	2.27	0.49130	D	0.999751	D	0.89917	1.0	D	0.91635	0.999	T	0.01093	-1.1454	10	0.87932	D	0	-22.7835	18.2285	0.89926	0.0:0.0:1.0:0.0	.	437	Q8N884	M21D1_HUMAN	Y	437;437;420	ENSP00000359342:H437Y;ENSP00000359339:H437Y	ENSP00000296913:H420Y	H	-	1	0	MB21D1	74191931	1.000000	0.71417	0.974000	0.42286	0.416000	0.31233	7.456000	0.80751	2.750000	0.94351	0.650000	0.86243	CAT	MB21D1	-	pfam_Mab-21_dom		0.383	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	G	NM_138441		74135210	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74135210	G	A	74135210	3	1	160	1	0	0	0	0	1	0	0	0	2342	1290	45	1	263	1	C6orf150	6	74135210	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	255642	74135210	96979857	864	29137	184	2								
C6orf150	115004	genome.wustl.edu	37	chr6	74135218	74135218	+	Missense_Mutation	SNP	G	G	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagttttcacatgataagaaGagaatttatccagatgtttt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:74135218G>C	ENST00000370315.3	-	5	1395	c.1301C>G	c.(1300-1302)tCt>tGt	p.S434C	MB21D1_ENST00000370318.1_Missense_Mutation_p.S434C	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	434					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						ATGATAAGAAGAGAATTTATC	0.378																																																	0													66	63	64					6																	74135218		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1301C>G	6.37:g.74135218G>C	ENSP00000359339:p.Ser434Cys		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	pfam_Mab-21_dom	p.S434C	ENST00000370315.3	37	c.1301	CCDS4978.1	6	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058574	0.01950	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.09630	2.96;2.96	5.8	1.49	0.22878	.	0.428492	0.24735	N	0.036036	T	0.00468	0.0015	N	0.00143	-2	0.25982	N	0.982355	B	0.06786	0.001	B	0.04013	0.001	T	0.44787	-0.9305	10	0.02654	T	1	-4.962	8.5829	0.33640	0.0:0.615:0.2391:0.1459	.	434	Q8N884	M21D1_HUMAN	C	434;434;417	ENSP00000359342:S434C;ENSP00000359339:S434C	ENSP00000296913:S417C	S	-	2	0	MB21D1	74191939	0.999000	0.42202	0.995000	0.50966	0.628000	0.37860	0.580000	0.23803	0.375000	0.24679	-0.153000	0.13522	TCT	MB21D1	-	pfam_Mab-21_dom		0.378	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	G	NM_138441		74135218	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74135218	G	C	74135218	3	2	160	1	0	0	0	0	1	0	0	0	2342	942	33	1	271	1	C6orf150	6	74135218	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8	74135218	96979849	865	29138	184	2								
MYO6	4646	genome.wustl.edu	37	chr6	76589832	76589832	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaaagtattttttagacctGgcaaggtaaatatacatttt	6	6	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:76589832G>C	ENST00000369977.3	+	22	2420	c.2281G>C	c.(2281-2283)Ggc>Cgc	p.G761R	MYO6_ENST00000369985.4_Missense_Mutation_p.G761R|MYO6_ENST00000369975.1_Missense_Mutation_p.G761R|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.G761R	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	761	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTAGACCTGGCAAGGTAAA	0.254																																																	0													26	29	28					6																	76589832		2189	4283	6472	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2281G>C	6.37:g.76589832G>C	ENSP00000358994:p.Gly761Arg		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.G761R	ENST00000369977.3	37	c.2281	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856654	0.91433	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89161	0.3530	10	0.87932	D	0	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	761;761	Q9UM54-2;Q9UM54-1	.;.	R	761	ENSP00000358998:G761R;ENSP00000359002:G761R;ENSP00000358994:G761R;ENSP00000358992:G761R	ENSP00000358992:G761R	G	+	1	0	MYO6	76646552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.738000	0.93877	0.655000	0.94253	GGC	MYO6	-	smart_Myosin_head_motor_dom		0.254	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	G	NM_004999		76589832	1	no_errors	ENST00000369981	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76589832	G	C	76589832	3	2	160	1	0	0	0	0	1	0	0	0	10104	1348	47	4	2363	4	MYO6	6	76589832	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2454614	76589832	94525235	866	29139										
IMPG1	3617	genome.wustl.edu	37	chr6	76631854	76631854	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aattcttcatattctacggtCagtaattcagaatttctttt	4	7	6	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:76631854C>G	ENST00000369950.3	-	17	2535	c.2346G>C	c.(2344-2346)ctG>ctC	p.L782L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATTCTACGGTCAGTAATTCAG	0.313																																					Pancreas(37;839 1141 2599 26037)												0													80	74	76					6																	76631854		2193	4295	6488	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2346G>C	6.37:g.76631854C>G				Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.L782	ENST00000369950.3	37	c.2346	CCDS4985.1	6																																																																																			IMPG1	-	NULL		0.313	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	C	NM_001563		76631854	-1	no_errors	ENST00000369950	ensembl	human	known	70_37	silent	SNP	0.000	G	G	76631854	C	G	76631854	2	3	160	1	0	0	0	0	0	0	0	1	7748	813	29	1		1	IMPG1	6	76631854	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	42022	76631854	94483213	867	29140										
DOPEY1	23033	genome.wustl.edu	37	chr6	83848232	83848232	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatgcaaatgatgagcataGaaattctgacactactcttc	6	9	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:83848232G>C	ENST00000349129.2	+	21	4731	c.4471G>C	c.(4471-4473)Gaa>Caa	p.E1491Q	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1482Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1472Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1491					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATGAGCATAGAAATTCTGAC	0.378																																																	0													81	87	85					6																	83848232		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4471G>C	6.37:g.83848232G>C	ENSP00000195654:p.Glu1491Gln		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E1491Q	ENST00000349129.2	37	c.4471	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494033	0.44352	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.41065	1.01;1.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.62088	1.915	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.77557	0.99;0.986;0.986	T	0.56637	-0.7946	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1382;1482;1491	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	1491;1472;1472	ENSP00000195654:E1491Q;ENSP00000237163:E1472Q	ENSP00000237163:E1472Q	E	+	1	0	DOPEY1	83904951	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	GAA	DOPEY1	-	superfamily_ARM-type_fold		0.378	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83848232	1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	C	C	83848232	G	C	83848232	3	2	160	1	0	0	0	0	1	0	0	0	4717	943	33	1	4545	1	DOPEY1	6	83848232	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7216378	83848232	87266835	868	29141										
RNGTT	8732	genome.wustl.edu	37	chr6	89614556	89614556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaacaccaatctggcaataGaggtgggggtggtgcttcct	13	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:89614556G>C	ENST00000369485.4	-	6	748	c.562C>G	c.(562-564)Cta>Gta	p.L188V	RNGTT_ENST00000369475.3_Missense_Mutation_p.L188V|RNGTT_ENST00000265607.6_Missense_Mutation_p.L188V|RNGTT_ENST00000538899.1_Missense_Mutation_p.L128V	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	188	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCTGGCAATAGAGGTGGGGGT	0.463																																																	0													110	95	100					6																	89614556		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.562C>G	6.37:g.89614556G>C	ENSP00000358497:p.Leu188Val		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.L188V	ENST00000369485.4	37	c.562	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260187	0.23051	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.29655	2.0;2.0;2.0;1.56	5.56	-2.26	0.06867	.	0.762731	0.11914	N	0.517388	T	0.03827	0.0108	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42599	-0.9442	10	0.34782	T	0.22	.	12.9145	0.58199	0.1428:0.6017:0.2555:0.0	.	128;188;188;188	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	V	188;188;128;159;188	ENSP00000358497:L188V;ENSP00000265607:L188V;ENSP00000442609:L128V;ENSP00000358487:L188V	ENSP00000265607:L188V	L	-	1	2	RNGTT	89671275	0.535000	0.26370	0.996000	0.52242	0.992000	0.81027	-0.002000	0.12924	-0.066000	0.12998	0.655000	0.94253	CTA	RNGTT	-	pirsf_mRNA_cap_enz_bifunc		0.463	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	G			89614556	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	missense	SNP	0.045	C	C	89614556	G	C	89614556	3	2	160	1	0	0	0	0	1	0	0	0	13533	933	33	1	1275	1	RNGTT	6	89614556	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5766324	89614556	81500511	869	29142										
GABRR1	2569	genome.wustl.edu	37	chr6	89907951	89907951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagtgcctcaggtagagggtCatcgtaaagtcctgggagca	14	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:89907951C>T	ENST00000454853.2	-	5	470	c.360G>A	c.(358-360)atG>atA	p.M120I	GABRR1_ENST00000435811.1_Missense_Mutation_p.M103I|GABRR1_ENST00000369451.3_Missense_Mutation_p.M33I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	120					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGTAGAGGGTCATCGTAAAGT	0.547																																																	0													184	174	178					6																	89907951		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.360G>A	6.37:g.89907951C>T	ENSP00000412673:p.Met120Ile		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.M120I	ENST00000454853.2	37	c.360	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107698	0.37242	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.78003	-1.14;-1.14;-1.14	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	L	0.31294	0.92	0.58432	D	0.999999	P;D	0.56035	0.936;0.974	P;D	0.63113	0.693;0.911	T	0.74228	-0.3733	9	.	.	.	-43.3629	20.3437	0.98782	0.0:1.0:0.0:0.0	.	103;120	P24046-2;P24046	.;GBRR1_HUMAN	I	120;103;33;33	ENSP00000412673:M120I;ENSP00000394687:M103I;ENSP00000358463:M33I	.	M	-	3	0	GABRR1	89964670	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	7.717000	0.84732	2.815000	0.96918	0.561000	0.74099	ATG	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.547	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	C			89907951	-1	no_errors	ENST00000454853	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89907951	C	T	89907951	3	4	160	1	0	0	0	0	1	0	0	0	6194	826	29	1	1103	1	GABRR1	6	89907951	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	293395	89907951	81207116	870	29143										
CASP8AP2	9994	genome.wustl.edu	37	chr6	90578203	90578203	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagacaattctttgcaggctGatactgtaggtgcttttatt	9	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:90578203G>C	ENST00000551025.1	+	0	6631									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTGCAGGCTGATACTGTAGG	0.383																																					Colon(187;1656 2025 17045 31481 39901)												0													85	78	80					6																	90578203		1881	4109	5990			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578203G>C				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.383	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90578203	1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.131	C	C	90578203	G	C	90578203	1	2	160	0	1	0	0	0	0	0	0	0	2683	1290	45	1		1	CASP8AP2	6	90578203	RNA	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	670252	90578203	80536864	871	29144										
EPHA7	2045	genome.wustl.edu	37	chr6	94066513	94066513	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaaactccatttacagcttCaacttcaaaagtataattag	4	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:94066513C>T	ENST00000369303.4	-	5	1430	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTACAGCTTCAACTTCAAAA	0.443																																																	0													115	112	113					6																	94066513		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1246G>A	6.37:g.94066513C>T	ENSP00000358309:p.Glu416Lys		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E416K	ENST00000369303.4	37	c.1246	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742952	0.89573	.	.	ENSG00000135333	ENST00000369303	T	0.56103	0.48	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.74647	2.275	0.80722	D	1	P;B;D	0.55172	0.928;0.256;0.97	P;B;P	0.48425	0.452;0.112;0.577	T	0.61652	-0.7019	10	0.56958	D	0.05	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	416;416;416	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	416	ENSP00000358309:E416K	ENSP00000358309:E416K	E	-	1	0	EPHA7	94123234	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.792000	0.85828	2.772000	0.95346	0.650000	0.86243	GAA	EPHA7	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.443	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	C			94066513	-1	no_errors	ENST00000369303	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94066513	C	T	94066513	3	4	160	1	0	0	0	0	1	0	0	0	5184	835	29	1	1802	1	EPHA7	6	94066513	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3488310	94066513	77048554	872	29145										
GPR63	81491	genome.wustl.edu	37	chr6	97246873	97246873	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaaagaaatgagagaaatCaaaatcacataagcctggta	8	5	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:97246873C>G	ENST00000229955.3	-	2	1080	c.735G>C	c.(733-735)ttG>ttC	p.L245F	GPR63_ENST00000417980.1_Missense_Mutation_p.L245F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L245F(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGAGAGAAATCAAAATCACAT	0.473																																																	1	Substitution - Missense(1)	stomach(1)											81	87	85					6																	97246873		2203	4300	6503	SO:0001583	missense	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.735G>C	6.37:g.97246873C>G	ENSP00000229955:p.Leu245Phe		Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L245F	ENST00000229955.3	37	c.735	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998055	0.19043	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.37411	1.2;1.2;1.2	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.275256	0.28809	N	0.014071	T	0.15565	0.0375	L	0.33137	0.985	0.46774	D	0.999193	B	0.29136	0.234	B	0.30105	0.111	T	0.04078	-1.0979	10	0.24483	T	0.36	-0.3861	13.2223	0.59894	0.2652:0.7348:0.0:0.0	.	245	Q9BZJ6	GPR63_HUMAN	F	269;245;245;245	ENSP00000393170:L245F;ENSP00000229955:L245F;ENSP00000358273:L245F	ENSP00000229955:L245F	L	-	3	2	GPR63	97353594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.367000	0.34204	2.595000	0.87683	0.650000	0.86243	TTG	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2	C			97246873	-1	no_errors	ENST00000229955	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97246873	C	G	97246873	3	3	160	1	0	0	0	0	1	0	0	0	6723	825	29	1	528	1	GPR63	6	97246873	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3180360	97246873	73868194	873	29146										
SIM1	6492	genome.wustl.edu	37	chr6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagctgcgaggtgatagccGagggcaaaggcagtaattta	14	8	0	1	rs375766542		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:100911253G>A	ENST00000369208.3	-	2	874	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SIM1_ENST00000262901.4_Missense_Mutation_p.S31L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	31	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S31L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											186	183	184					6																	100911253		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.92C>T	6.37:g.100911253G>A	ENSP00000358210:p.Ser31Leu		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.S31L	ENST00000369208.3	37	c.92	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.548061	0.96488	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	D;D	0.97976	-4.64;-4.64	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	N	0.24115	0.695	0.80722	D	1	P	0.52061	0.95	P	0.48030	0.564	D	0.95278	0.8383	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P81133	SIM1_HUMAN	L	31	ENSP00000358210:S31L;ENSP00000262901:S31L	ENSP00000262901:S31L	S	-	2	0	SIM1	101017974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCG	SIM1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	G	NM_005068		100911253	-1	no_errors	ENST00000262901	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100911253	G	A	100911253	3	1	160	1	0	0	0	0	1	0	0	0	14353	1059	37	1	2252	1	SIM1	6	100911253	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3664380	100911253	70203814	874	29147										
PRDM1	639	genome.wustl.edu	37	chr6	106555001	106555001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtagcctcaaggttcacctGaaagggaactgcgctgcggc	13	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:106555001G>A	ENST00000369096.4	+	7	2352	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	PRDM1_ENST00000369089.3_Silent_p.L572L|PRDM1_ENST00000369091.2_Silent_p.L670L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	706					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTTCACCTGAAAGGGAACT	0.562			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0													151	170	164					6																	106555001		2203	4300	6503	SO:0001819	synonymous_variant	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2118G>A	6.37:g.106555001G>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.L706	ENST00000369096.4	37	c.2118	CCDS5054.2	6																																																																																			PRDM1	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM1		0.562	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	G			106555001	1	no_errors	ENST00000369096	ensembl	human	known	70_37	silent	SNP	0.998	A	A	106555001	G	A	106555001	2	1	160	1	0	0	0	0	0	0	0	1	12477	1277	45	1		1	PRDM1	6	106555001	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5643748	106555001	64560066	875	29148										
BEND3	57673	genome.wustl.edu	37	chr6	107419757	107419757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcagctaggccctcacctCggggatcagccgcctcctct	10	18	3	0	rs34176768		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:107419757C>T	ENST00000369042.1	-	3	428	c.238G>A	c.(238-240)Gag>Aag	p.E80K	BEND3_ENST00000429433.2_Missense_Mutation_p.E80K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	80										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCCTCACCTCGGGGATCAGC	0.587																																																	0													41	38	39					6																	107419757		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.238G>A	6.37:g.107419757C>T	ENSP00000358038:p.Glu80Lys		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.E80K	ENST00000369042.1	37	c.238	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033624	0.93575	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	5.86	0.93980	.	0.000000	0.51477	D	0.000095	T	0.56156	0.1966	N	0.24115	0.695	0.43211	D	0.995074	D	0.76494	0.999	D	0.68621	0.959	T	0.58978	-0.7540	9	0.49607	T	0.09	-3.4642	16.9016	0.86115	0.0:1.0:0.0:0.0	.	80	Q5T5X7	BEND3_HUMAN	K	80	.	ENSP00000358038:E80K	E	-	1	0	BEND3	107526450	0.997000	0.39634	1.000000	0.80357	0.642000	0.38348	4.470000	0.60175	2.771000	0.95319	0.650000	0.86243	GAG	BEND3	-	NULL		0.587	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107419757	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107419757	C	T	107419757	3	4	160	1	0	0	0	0	1	0	0	0	1400	893	31	1	2256	1	BEND3	6	107419757	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	864756	107419757	63695310	876	29149										
PDSS2	57107	genome.wustl.edu	37	chr6	107780455	107780455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacccgaggctccaagataaCgtggcaagtgcaacagcagc	11	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:107780455C>G	ENST00000369037.4	-	1	312	c.35G>C	c.(34-36)cGt>cCt	p.R12P	PDSS2_ENST00000453874.2_Missense_Mutation_p.R12P|PDSS2_ENST00000369031.4_Missense_Mutation_p.R12P	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	12					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCCAAGATAACGTGGCAAGTG	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	50	48					6																	107780455		2203	4300	6503	SO:0001583	missense	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.35G>C	6.37:g.107780455C>G	ENSP00000358033:p.Arg12Pro	1407	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.R12P	ENST00000369037.4	37	c.35	CCDS5059.1	6	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202102	0.22121	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.72942	-0.7;-0.12;0.82	4.39	2.63	0.31362	.	0.469213	0.19081	N	0.123246	T	0.32793	0.0841	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29552	0.052;0.248;0.052;0.052	B;B;B;B	0.38921	0.044;0.285;0.065;0.023	T	0.25187	-1.0139	10	0.41790	T	0.15	.	7.141	0.25556	0.0:0.7997:0.0:0.2003	.	12;12;12;12	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	P	12	ENSP00000358033:R12P;ENSP00000399691:R12P;ENSP00000358027:R12P	ENSP00000358027:R12P	R	-	2	0	PDSS2	107887148	0.023000	0.18921	0.005000	0.12908	0.351000	0.29236	1.027000	0.30115	0.798000	0.33994	-0.137000	0.14449	CGT	PDSS2	-	NULL		0.622	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	C	NM_020381		107780455	-1	no_errors	ENST00000369037	ensembl	human	known	70_37	missense	SNP	0.028	G	G	107780455	C	G	107780455	3	3	160	1	0	0	0	0	1	0	0	0	11718	536	19	2	1196	2	PDSS2	6	107780455	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	360698	107780455	63334612	877	29150										
SNX3	8724	genome.wustl.edu	37	chr6	108582039	108582039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggttgctcacatcgatctcGaggaagttgctggggggtcc	16	9	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:108582039G>A	ENST00000230085.8	-	1	425	c.87C>T	c.(85-87)ctC>ctT	p.L29L	SNX3_ENST00000368982.4_Silent_p.L29L|SNX3_ENST00000426155.2_Silent_p.L29L|SNX3_ENST00000349379.5_Silent_p.L29L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	29	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		CATCGATCTCGAGGAAGTTGC	0.632																																																	0													58	63	61					6																	108582039		2203	4300	6503	SO:0001819	synonymous_variant	8724			AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"Sorting nexins"	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.87C>T	6.37:g.108582039G>A			A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L29	ENST00000230085.8	37	c.87	CCDS5064.1	6																																																																																			SNX3	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.632	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX3	HGNC	protein_coding	OTTHUMT00000041717.1	G			108582039	-1	no_errors	ENST00000230085	ensembl	human	known	70_37	silent	SNP	0.741	A	A	108582039	G	A	108582039	2	1	160	1	0	0	0	0	0	0	0	1	14929	1045	37	1		1	SNX3	6	108582039	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	801584	108582039	62533028	878	29151										
LACE1	246269	genome.wustl.edu	37	chr6	108841001	108841001	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaatactgatggatgatttGgggctgagccaggtaggcga	16	5	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:108841001G>C	ENST00000368977.4	+	12	1491	c.1305G>C	c.(1303-1305)ttG>ttC	p.L435F		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	435						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGATGATTTGGGGCTGAGCC	0.368																																																	0													114	105	108					6																	108841001		2203	4300	6503	SO:0001583	missense	246269			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1305G>C	6.37:g.108841001G>C	ENSP00000357973:p.Leu435Phe		Q8N6A3	Missense_Mutation	SNP	pfam_ATPase_AFG1-like	p.L435F	ENST00000368977.4	37	c.1305	CCDS5067.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.550747|4.550747	0.86127|0.86127	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000368977|ENST00000421954	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83649|0.83649	0.5300|0.5300	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.71184|.	0.972|.	D|D	0.85323|0.85323	0.1085|0.1085	9|5	0.87932|.	D|.	0|.	-9.54|-9.54	19.6956|19.6956	0.96023|0.96023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435|.	Q8WV93|.	LACE1_HUMAN|.	F|S	435|303	.|.	ENSP00000357973:L435F|.	L|W	+|+	3|2	2|0	LACE1|LACE1	108947694|108947694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.245000|6.245000	0.72398|0.72398	2.757000|2.757000	0.94681|0.94681	0.561000|0.561000	0.74099|0.74099	TTG|TGG	LACE1	-	NULL		0.368	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACE1	HGNC	protein_coding	OTTHUMT00000041719.4	G	NM_145315		108841001	1	no_errors	ENST00000368977	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108841001	G	C	108841001	3	2	160	1	0	0	0	0	1	0	0	0	8615	1339	47	4	1351	4	LACE1	6	108841001	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	258962	108841001	62274066	879	29152										
AMD1	262	genome.wustl.edu	37	chr6	111211456	111211456	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcttttcttttttaataaaGagcttcttttattctcgtaa	3	6	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:111211456G>C	ENST00000368885.3	+	4	660		c.e4-1		AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Splice_Site|AMD1_ENST00000368876.1_Splice_Site|AMD1_ENST00000451850.2_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1						cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTTTAATAAAGAGCTTCTTTT	0.323																																																	0													27	30	29					6																	111211456		2182	4288	6470	SO:0001630	splice_region_variant	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.325-1G>C	6.37:g.111211456G>C			E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Splice_Site	SNP	-	e4-1	ENST00000368885.3	37	c.325-1	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784535	0.49997	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	1.88	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.444	0.50112	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMD1	111318149	1.000000	0.71417	0.888000	0.34837	0.920000	0.55202	4.881000	0.63114	0.459000	0.27016	0.462000	0.41574	.	AMD1	-	-		0.323	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G		Intron	111211456	1	no_errors	ENST00000368885	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	111211456	G	C	111211456	5	2	160	1	0	0	0	0	0	0	1	0	566	956	33	1	338	1	AMD1	6	111211456	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2370455	111211456	59903611	880	29153										
KIAA1919	91749	genome.wustl.edu	37	chr6	111587259	111587259	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatcctgcactcaaccaatCatctgatgctgactcagaag	6	14	4	3	rs138228344	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:111587259C>G	ENST00000368847.4	+	4	847	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	165					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTCAACCAATCATCTGATGCT	0.458																																																	0													93	84	87					6																	111587259		2203	4300	6503	SO:0001587	stop_gained	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.494C>G	6.37:g.111587259C>G	ENSP00000357840:p.Ser165*		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S165*	ENST00000368847.4	37	c.494	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608034	0.87258	.	.	ENSG00000173214	ENST00000368847	.	.	.	5.85	5.85	0.93711	.	0.657283	0.15827	N	0.242707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-19.4475	20.168	0.98156	0.0:1.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000357840:S165X	S	+	2	0	KIAA1919	111693952	0.012000	0.17670	0.097000	0.21041	0.017000	0.09413	1.671000	0.37513	2.774000	0.95407	0.643000	0.83706	TCA	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.458	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	C	NM_153369		111587259	1	no_errors	ENST00000368847	ensembl	human	known	70_37	nonsense	SNP	0.568	G	G	111587259	C	G	111587259	4	3	160	1	0	0	0	0	0	1	0	0	8282	838	29	1	508	1	KIAA1919	6	111587259	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	375803	111587259	59527808	881	29154										
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111913016	111913016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctcctgcagaaactgtcttCactgtcctccagaacttgag	7	13	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:111913016C>G	ENST00000340026.6	-	3	895	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.E92Q|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E92Q|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	101	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AAACTGTCTTCACTGTCCTCC	0.567																																																	0													61	63	62					6																	111913016		2203	4300	6503	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.301G>C	6.37:g.111913016C>G	ENSP00000345984:p.Glu101Gln		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	pfam_SEFIR	p.E101Q	ENST00000340026.6	37	c.301		6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454313	0.84209	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.39406	1.1;1.09;1.08	5.91	5.91	0.95273	.	0.200735	0.43919	D	0.000518	T	0.51092	0.1654	M	0.66939	2.045	0.80722	D	1	D;D;D	0.59767	0.977;0.986;0.981	P;P;P	0.55455	0.601;0.776;0.69	T	0.51537	-0.8693	10	0.62326	D	0.03	-0.1419	18.4816	0.90813	0.0:1.0:0.0:0.0	.	101;92;92	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	Q	101;92;101;92	ENSP00000357750:E92Q;ENSP00000345984:E101Q;ENSP00000352889:E92Q	ENSP00000345984:E101Q	E	-	1	0	TRAF3IP2	112019709	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	5.038000	0.64177	2.809000	0.96659	0.555000	0.69702	GAA	TRAF3IP2	-	NULL		0.567	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	C			111913016	-1	no_errors	ENST00000340026	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111913016	C	G	111913016	3	3	160	1	0	0	0	0	1	0	0	0	16472	835	29	1	1455	1	TRAF3IP2	6	111913016	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	325757	111913016	59202051	882	29155										
DSE	29940	genome.wustl.edu	37	chr6	116756828	116756828	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattttgaagactggggtgtCgtgacttatggaagtgcact	13	5	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:116756828C>T	ENST00000331677.3	+	7	1641	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	DSE_ENST00000537543.1_Silent_p.V418V|DSE_ENST00000452085.3_Silent_p.V399V|DSE_ENST00000359564.2_Silent_p.V399V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	399					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTGGGGTGTCGTGACTTATG	0.423																																																	0													85	83	83					6																	116756828		2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1197C>T	6.37:g.116756828C>T			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.V418	ENST00000331677.3	37	c.1254	CCDS5107.1	6																																																																																			DSE	-	NULL		0.423	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116756828	1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.855	T	T	116756828	C	T	116756828	2	4	160	1	0	0	0	0	0	0	0	1	4784	871	31	1		1	DSE	6	116756828	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4843812	116756828	54358239	883	29156										
FAM184A	79632	genome.wustl.edu	37	chr6	119285899	119285899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctttgttgaagttagtttctCgattgactaattccagctga	8	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:119285899C>T	ENST00000338891.7	-	16	3514	c.3071G>A	c.(3070-3072)cGa>cAa	p.R1024Q	FAM184A_ENST00000352896.5_Missense_Mutation_p.R855Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1024						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTAGTTTCTCGATTGACTAA	0.294																																																	0													105	95	98					6																	119285899		1820	4071	5891	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3071G>A	6.37:g.119285899C>T	ENSP00000342604:p.Arg1024Gln		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.R1024Q	ENST00000338891.7	37	c.3071	CCDS43499.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.549273|5.549273	0.96488|0.96488	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000481884|ENST00000338891;ENST00000352896;ENST00000368472	.|T;T;T	.|0.41758	.|1.92;1.91;0.99	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62307|0.62307	0.2417|0.2417	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.993	T|T	0.64339|0.64339	-0.6431|-0.6431	5|10	.|0.72032	.|D	.|0.01	-10.4272|-10.4272	19.9925|19.9925	0.97371|0.97371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|855;1024	.|F8W8D6;Q8NB25	.|.;F184A_HUMAN	K|Q	3|1024;855;85	.|ENSP00000342604:R1024Q;ENSP00000326608:R855Q;ENSP00000357457:R85Q	.|ENSP00000342604:R1024Q	E|R	-|-	1|2	0|0	FAM184A|FAM184A	119327598|119327598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GAG|CGA	FAM184A	-	NULL		0.294	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	C	NM_024581		119285899	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119285899	C	T	119285899	3	4	160	1	0	0	0	0	1	0	0	0	5526	884	31	1	363	1	FAM184A	6	119285899	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2529071	119285899	51829168	884	29157										
PTPRK	5796	genome.wustl.edu	37	chr6	128399990	128399990	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctttggcttgtgctggtctCaacaatacagttattgtggt	10	8	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:128399990C>G	ENST00000368215.3	-	11	1850	c.1851G>C	c.(1849-1851)ttG>ttC	p.L617F	PTPRK_ENST00000532331.1_Missense_Mutation_p.L617F|PTPRK_ENST00000368210.3_Missense_Mutation_p.L617F|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Missense_Mutation_p.L617F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.L617F|PTPRK_ENST00000368227.3_Missense_Mutation_p.L617F|PTPRK_ENST00000368213.5_Missense_Mutation_p.L617F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	617	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTGCTGGTCTCAACAATACAG	0.418																																																	0													195	178	184					6																	128399990		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1851G>C	6.37:g.128399990C>G	ENSP00000357198:p.Leu617Phe		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L617F	ENST00000368215.3	37	c.1851		6	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693358	0.68386	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.11385	2.79;2.78;2.8;2.8;2.79;2.82;2.79	5.91	4.14	0.48551	.	0.071507	0.56097	D	0.000029	T	0.22322	0.0538	M	0.83483	2.645	0.50313	D	0.99986	D;D;D;D;D;D	0.76494	0.998;0.996;0.997;0.982;0.998;0.999	D;D;D;P;D;D	0.83275	0.991;0.938;0.972;0.878;0.991;0.996	T	0.02307	-1.1179	10	0.87932	D	0	.	9.4913	0.38962	0.0:0.7878:0.0:0.2122	.	617;617;617;474;617;617	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	F	617;617;617;617;617;617;617;474	ENSP00000357209:L617F;ENSP00000357210:L617F;ENSP00000432973:L617F;ENSP00000357196:L617F;ENSP00000357193:L617F;ENSP00000357198:L617F;ENSP00000357190:L617F	ENSP00000357190:L617F	L	-	3	2	PTPRK	128441683	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	0.555000	0.23422	0.844000	0.35094	0.650000	0.86243	TTG	PTPRK	-	NULL		0.418	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128399990	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128399990	C	G	128399990	3	3	160	1	0	0	0	0	1	0	0	0	12835	825	29	1	2573	1	PTPRK	6	128399990	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9114091	128399990	42715077	885	29158										
LAMA2	3908	genome.wustl.edu	37	chr6	129777516	129777516	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actatttctgtgagagccctGgatggacccaaagccagcat	10	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:129777516G>C	ENST00000421865.2	+	48	6793	c.6744G>C	c.(6742-6744)ctG>ctC	p.L2248L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2248	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGAGCCCTGGATGGACCCA	0.463																																																	0													180	158	165					6																	129777516		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6744G>C	6.37:g.129777516G>C			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2248	ENST00000421865.2	37	c.6744	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129777516	1	no_errors	ENST00000421865	ensembl	human	known	70_37	silent	SNP	0.952	C	C	129777516	G	C	129777516	2	2	160	1	0	0	0	0	0	0	0	1	8626	1335	47	4		4	LAMA2	6	129777516	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1377526	129777516	41337551	886	29159										
LAMA2	3908	genome.wustl.edu	37	chr6	129828747	129828747	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatgttttgcaaatgctcaGaggggaacatattttgacgg	11	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:129828747G>C	ENST00000421865.2	+	62	8866	c.8817G>C	c.(8815-8817)caG>caC	p.Q2939H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2939	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAATGCTCAGAGGGGAACAT	0.463																																																	0													185	174	177					6																	129828747		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8817G>C	6.37:g.129828747G>C	ENSP00000400365:p.Gln2939His		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q2939H	ENST00000421865.2	37	c.8817	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628215	0.66901	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.45668	0.89	5.52	2.35	0.29111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.104953	0.64402	D	0.000005	T	0.28267	0.0698	M	0.64997	1.995	0.33247	D	0.558059	P;P	0.48998	0.918;0.918	P;P	0.47015	0.534;0.534	T	0.08289	-1.0729	9	.	.	.	.	9.5879	0.39528	0.3686:0.0:0.6313:0.0	.	2940;2939	A6NF00;P24043	.;LAMA2_HUMAN	H	2939;2938;2939;957	ENSP00000400365:Q2939H	.	Q	+	3	2	LAMA2	129870440	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	0.663000	0.25053	0.718000	0.32166	0.491000	0.48974	CAG	LAMA2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129828747	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.976	C	C	129828747	G	C	129828747	3	2	160	1	0	0	0	0	1	0	0	0	8626	933	33	1	9063	1	LAMA2	6	129828747	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	51231	129828747	41286320	887	29160										
L3MBTL3	84456	genome.wustl.edu	37	chr6	130363855	130363855	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaataaatcatgactgaatCtgcctctagcacaagtggtc	7	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:130363855C>A	ENST00000529410.1	+	5	490	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S4Y|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S4Y			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	4					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATGACTGAATCTGCCTCTAGC	0.383																																																	0													154	139	144					6																	130363855		2203	4300	6503	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.11C>A	6.37:g.130363855C>A	ENSP00000431962:p.Ser4Tyr		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.S4Y	ENST00000529410.1	37	c.11	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237803	0.79800	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.54071	2.32;2.32;2.32;0.59;2.32;2.32;2.32	5.7	5.7	0.88788	.	0.380629	0.31734	N	0.007155	T	0.49864	0.1582	L	0.50333	1.59	0.37699	D	0.924123	P;D	0.53885	0.955;0.963	P;P	0.50490	0.542;0.642	T	0.56318	-0.7999	10	0.87932	D	0	.	16.7465	0.85474	0.0:1.0:0.0:0.0	.	4;4	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	Y	4	ENSP00000431962:S4Y;ENSP00000437185:S4Y;ENSP00000354526:S4Y;ENSP00000433257:S4Y;ENSP00000357121:S4Y;ENSP00000436706:S4Y;ENSP00000357118:S4Y	ENSP00000354526:S4Y	S	+	2	0	L3MBTL3	130405548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.004000	0.63966	2.687000	0.91594	0.591000	0.81541	TCT	L3MBTL3	-	NULL		0.383	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130363855	1	no_errors	ENST00000361794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130363855	C	A	130363855	3	1	160	1	0	0	0	0	1	0	0	0	8613	913	32	3	13	3	L3MBTL3	6	130363855	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	535108	130363855	40751212	888	29161										
MED23	9439	genome.wustl.edu	37	chr6	131919782	131919782	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaggggagccctgcatagaGaagtgggtaataatgtcgtt	16	5	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:131919782G>A	ENST00000368068.3	-	19	2519	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	MED23_ENST00000368060.3_Silent_p.F780F|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000354577.4_Silent_p.F786F|MED23_ENST00000368053.4_Silent_p.F786F|MED23_ENST00000545957.1_Silent_p.F421F|MED23_ENST00000403834.3_Silent_p.F786F|MED23_ENST00000540546.1_Silent_p.F786F|MED23_ENST00000368058.1_Silent_p.F786F	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	780					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCTGCATAGAGAAGTGGGTAA	0.408																																																	0													159	152	154					6																	131919782		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2340C>T	6.37:g.131919782G>A			B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.F786	ENST00000368068.3	37	c.2358	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23		0.408	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131919782	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	silent	SNP	0.974	A	A	131919782	G	A	131919782	2	1	160	1	0	0	0	0	0	0	0	1	9464	933	33	1		1	MED23	6	131919782	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1555927	131919782	39195285	889	29162										
SGK1	6446	genome.wustl.edu	37	chr6	134498933	134498933	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcctccctgctacatgcctCtgataagctggaactctgag	9	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:134498933C>G	ENST00000237305.7	-	0	0				SGK1_ENST00000475719.2_5'Flank|SGK1_ENST00000413996.3_5'Flank|SGK1_ENST00000367857.5_5'Flank|SGK1_ENST00000528577.1_Missense_Mutation_p.E10Q|SGK1_ENST00000367858.5_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTACATGCCTCTGATAAGCTG	0.488																																																	0													81	72	75					6																	134498933		1568	3582	5150	SO:0001631	upstream_gene_variant	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		6.37:g.134498933C>G	Exception_encountered		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E10Q	ENST00000237305.7	37	c.28	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239617	0.58995	.	.	ENSG00000118515	ENST00000528577	T	0.71934	-0.61	4.59	-1.14	0.09741	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.20196	N	0.999923	B	0.09022	0.002	B	0.04013	0.001	T	0.17289	-1.0374	8	0.32370	T	0.25	.	4.9158	0.13846	0.0:0.4531:0.296:0.251	.	10	O00141-5	.	Q	10	ENSP00000434450:E10Q	ENSP00000434450:E10Q	E	-	1	0	SGK1	134540626	0.267000	0.24122	0.050000	0.19076	0.716000	0.41182	-0.565000	0.05929	-0.283000	0.09115	0.655000	0.94253	GAG	SGK1	-	NULL		0.488	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	C			134498933	-1	no_errors	ENST00000528577	ensembl	human	known	70_37	missense	SNP	0.038	G	G	134498933	C	G	134498933	1	3	160	0	1	0	0	0	0	0	0	0	14237	922	32	1		1	SGK1	6	134498933	5'Flank	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2579151	134498933	36616134	890	29163										
HBS1L	10767	genome.wustl.edu	37	chr6	135358409	135358409	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatgactggttacaaaggtCagataaagtaaagcactggc	11	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:135358409C>T	ENST00000367837.5	-	4	637				HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.D396N|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTACAAAGGTCAGATAAAGTA	0.398																																																	0													142	117	125					6																	135358409		692	1591	2283	SO:0001627	intron_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2301G>A	6.37:g.135358409C>T			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916	p.D396N	ENST00000367837.5	37	c.1186	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257251	0.59321	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.53	3.73	0.42828	.	.	.	.	.	T	0.33933	0.0880	.	.	.	0.80722	D	1	B	0.24186	0.099	B	0.25884	0.064	T	0.32214	-0.9915	7	0.66056	D	0.02	.	10.0412	0.42160	0.0:0.79:0.1371:0.0728	.	396	Q9Y450-2	.	N	396	.	ENSP00000356796:D396N	D	-	1	0	HBS1L	135400102	1.000000	0.71417	0.696000	0.30242	0.971000	0.66376	1.550000	0.36223	0.791000	0.33826	0.655000	0.94253	GAC	HBS1L	-	NULL		0.398	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135358409	-1	no_errors	ENST00000367822	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135358409	C	T	135358409	1	4	160	0	1	0	0	0	0	0	0	0	7007	826	29	1		1	HBS1L	6	135358409	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	859476	135358409	35756658	891	29164										
AHI1	54806	genome.wustl.edu	37	chr6	135769614	135769614	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttccattggctcccagaagCttaaaataagaattcatata	5	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:135769614C>G	ENST00000367800.4	-	10	1657		c.e10-1		AHI1_ENST00000457866.2_Splice_Site|AHI1_ENST00000327035.6_Splice_Site	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1						cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTCCCAGAAGCTTAAAATAAG	0.323																																																	0													71	69	70					6																	135769614		1814	4071	5885	SO:0001630	splice_region_variant	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1441-1G>C	6.37:g.135769614C>G			E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Splice_Site	SNP	-	e9-1	ENST00000367800.4	37	c.1441-1	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916794	0.73098	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0308	0.97536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHI1	135811307	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.456000	0.80751	2.732000	0.93576	0.585000	0.79938	.	AHI1	-	-		0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651	Intron	135769614	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	135769614	C	G	135769614	5	3	160	1	0	0	0	0	0	0	1	0	413	811	28	4	2279	4	AHI1	6	135769614	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	411205	135769614	35345453	892	29165										
BCLAF1	9774	genome.wustl.edu	37	chr6	136597237	136597237	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcttcttctttgtgcttatCttttgtagtgctaggccttt	8	8	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:136597237C>G	ENST00000531224.1	-	5	1678	c.1426G>C	c.(1426-1428)Gat>Cat	p.D476H	BCLAF1_ENST00000527536.1_Missense_Mutation_p.D476H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D474H|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D474H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D474H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	476					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGTGCTTATCTTTTGTAGTG	0.343																																					Colon(142;1534 1789 5427 7063 28491)												0													138	144	142					6																	136597237		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1426G>C	6.37:g.136597237C>G	ENSP00000435210:p.Asp476His		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.D476H	ENST00000531224.1	37	c.1426	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849643	0.51270	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000006	T	0.08626	0.0214	N	0.24115	0.695	0.80722	D	1	B;B;B	0.28713	0.123;0.22;0.123	B;B;B	0.30179	0.063;0.112;0.063	T	0.11299	-1.0593	10	0.72032	D	0.01	-5.8407	19.2018	0.93714	0.0:1.0:0.0:0.0	.	474;474;476	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	H	476;474;476;474;474;476	ENSP00000435210:D476H;ENSP00000229446:D474H;ENSP00000435441:D476H;ENSP00000434826:D474H;ENSP00000376159:D474H;ENSP00000431734:D476H	ENSP00000229446:D474H	D	-	1	0	BCLAF1	136638930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.375000	0.52410	2.611000	0.88343	0.644000	0.83932	GAT	BCLAF1	-	NULL		0.343	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	C	NM_014739		136597237	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136597237	C	G	136597237	3	3	160	1	0	0	0	0	1	0	0	0	1384	913	32	1	1372	1	BCLAF1	6	136597237	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	827623	136597237	34517830	893	29166										
MAP3K5	4217	genome.wustl.edu	37	chr6	137112890	137112890	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacggtggtttctccaaagtCgagtttcccaaaatgcaggg	11	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:137112890C>G	ENST00000359015.4	-	1	766	c.406G>C	c.(406-408)Gac>Cac	p.D136H		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	136					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTCCAAAGTCGAGTTTCCCA	0.627																																																	0													87	88	87					6																	137112890		2201	4298	6499	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.406G>C	6.37:g.137112890C>G	ENSP00000351908:p.Asp136His		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D136H	ENST00000359015.4	37	c.406	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537989	0.85917	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.73681	-0.77	4.94	4.94	0.65067	.	0.059401	0.64402	D	0.000003	D	0.84665	0.5522	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86752	0.1961	10	0.87932	D	0	.	18.1466	0.89659	0.0:1.0:0.0:0.0	.	136	Q99683	M3K5_HUMAN	H	136;216	ENSP00000351908:D136H	ENSP00000351908:D136H	D	-	1	0	MAP3K5	137154583	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.959000	0.76031	2.424000	0.82194	0.655000	0.94253	GAC	MAP3K5	-	NULL		0.627	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			137112890	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	G	G	137112890	C	G	137112890	3	3	160	1	0	0	0	0	1	0	0	0	9276	884	31	1	3838	1	MAP3K5	6	137112890	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	515653	137112890	34002177	894	29167										
KIAA1244	57221	genome.wustl.edu	37	chr6	138649264	138649264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctgatgaaaaaccaaatgGacacaccaagaaaaggtaag	8	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:138649264G>A	ENST00000251691.4	+	32	5274	c.5108G>A	c.(5107-5109)gGa>gAa	p.G1703E		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAACCAAATGGACACACCAAG	0.428																																																	0													77	59	65					6																	138649264		2203	4299	6502	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5108G>A	6.37:g.138649264G>A	ENSP00000251691:p.Gly1703Glu			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.G1703E	ENST00000251691.4	37	c.5108	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174562	0.57692	.	.	ENSG00000112379	ENST00000251691	T	0.17370	2.28	5.49	5.49	0.81192	.	0.174595	0.50627	D	0.000115	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00679	-1.1613	10	0.37606	T	0.19	-29.6234	19.3711	0.94488	0.0:0.0:1.0:0.0	.	1703	Q5TH69	BIG3_HUMAN	E	1703	ENSP00000251691:G1703E	ENSP00000251691:G1703E	G	+	2	0	KIAA1244	138690957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.444000	0.97578	2.585000	0.87301	0.655000	0.94253	GGA	KIAA1244	-	NULL		0.428	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	G	NM_020340		138649264	1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138649264	G	A	138649264	3	1	160	1	0	0	0	0	1	0	0	0	8237	1174	41	1	5234	1	KIAA1244	6	138649264	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1536374	138649264	32465803	895	29168										
VTA1	51534	genome.wustl.edu	37	chr6	142519611	142519611	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagatgctggagcagcctctCtgcccactcagccaactcag	9	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:142519611C>T	ENST00000367630.4	+	6	614	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000367621.1_Silent_p.L128L|VTA1_ENST00000452973.2_Silent_p.L128L	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	186	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGCAGCCTCTCTGCCCACTCA	0.418																																																	0													100	88	92					6																	142519611		2203	4300	6503	SO:0001819	synonymous_variant	51534			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.556C>T	6.37:g.142519611C>T			B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Silent	SNP	NULL	p.L186	ENST00000367630.4	37	c.556	CCDS5197.1	6																																																																																			VTA1	-	NULL		0.418	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	C	NM_016485		142519611	1	no_errors	ENST00000367630	ensembl	human	known	70_37	silent	SNP	0.712	T	T	142519611	C	T	142519611	2	4	160	1	0	0	0	0	0	0	0	1	17264	912	32	1		1	VTA1	6	142519611	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3870347	142519611	28595456	896	29169										
HIVEP2	3097	genome.wustl.edu	37	chr6	143074955	143074955	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggagtggaagatgactgaaGacatagtcattaggaccctc	12	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:143074955G>C	ENST00000367604.1	-	9	7269	c.6630C>G	c.(6628-6630)gtC>gtG	p.V2210V	HIVEP2_ENST00000012134.2_Silent_p.V2210V|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Silent_p.V2210V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATGACTGAAGACATAGTCAT	0.532																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													109	110	109					6																	143074955		1935	4134	6069	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6630C>G	6.37:g.143074955G>C			Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V2210	ENST00000367604.1	37	c.6630	CCDS43510.1	6																																																																																			HIVEP2	-	NULL		0.532	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143074955	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	silent	SNP	1.000	C	C	143074955	G	C	143074955	2	2	160	1	0	0	0	0	0	0	0	1	7207	929	33	1		1	HIVEP2	6	143074955	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	555344	143074955	28040112	897	29170										
SASH1	23328	genome.wustl.edu	37	chr6	148855021	148855021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggacgtgctcagtgaagacGaggagaaacccaaacgcccc	12	12	1	3	rs587781245		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:148855021G>A	ENST00000367467.3	+	15	2324	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	617					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGTGAAGACGAGGAGAAACC	0.552																																																	0													102	93	96					6																	148855021		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1849G>A	6.37:g.148855021G>A	ENSP00000356437:p.Glu617Lys		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E617K	ENST00000367467.3	37	c.1849	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334375	0.60853	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.31247	1.5	5.09	5.09	0.68999	Src homology-3 domain (1);	0.088701	0.85682	D	0.000000	T	0.20536	0.0494	M	0.73217	2.22	0.46113	D	0.998876	P;P	0.42993	0.618;0.797	B;B	0.28011	0.036;0.085	T	0.26292	-1.0107	10	0.54805	T	0.06	-18.5307	18.8564	0.92254	0.0:0.0:1.0:0.0	.	598;617	Q6P4R9;O94885	.;SASH1_HUMAN	K	617;378;27	ENSP00000356437:E617K	ENSP00000356437:E617K	E	+	1	0	SASH1	148896714	1.000000	0.71417	0.858000	0.33744	0.237000	0.25408	9.813000	0.99286	2.512000	0.84698	0.655000	0.94253	GAG	SASH1	-	superfamily_SH3_domain		0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148855021	1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.999	A	A	148855021	G	A	148855021	3	1	160	1	0	0	0	0	1	0	0	0	13878	1059	37	1	1907	1	SASH1	6	148855021	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5780066	148855021	22260046	898	29171										
RAET1G	353091	genome.wustl.edu	37	chr6	150240369	150240369	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgagtcaaagaggaggaaGatctgtccatcgaaactgag	12	7	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:150240369G>C	ENST00000367360.2	-	3	508	c.441C>G	c.(439-441)atC>atG	p.I147M	RAET1E-AS1_ENST00000446954.2_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.I147M|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AGAGGAGGAAGATCTGTCCAT	0.507																																																	0													212	195	201					6																	150240369		2203	4300	6503	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.441C>G	6.37:g.150240369G>C	ENSP00000356329:p.Ile147Met			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.I147M	ENST00000367360.2	37	c.441	CCDS43514.1	6	.	.	.	.	.	.	.	.	.	.	G	1.290	-0.607820	0.03717	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00700	5.82;5.82	2.4	-4.79	0.03200	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00241	0.0007	N	0.11927	0.2	0.09310	N	1	B	0.29188	0.236	B	0.41174	0.349	T	0.47289	-0.9129	9	0.62326	D	0.03	.	1.1859	0.01855	0.1518:0.2265:0.1568:0.4649	.	147	Q6H3X3	RET1G_HUMAN	M	147	ENSP00000356329:I147M;ENSP00000417503:I147M	ENSP00000356329:I147M	I	-	3	3	RAET1G	150282062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.628000	0.00410	-1.753000	0.01323	-1.325000	0.01285	ATC	RAET1G	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.507	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1G	HGNC	protein_coding	OTTHUMT00000042668.2	G			150240369	-1	no_errors	ENST00000367360	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150240369	G	C	150240369	3	2	160	1	0	0	0	0	1	0	0	0	13030	932	33	1	575	1	RAET1G	6	150240369	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1385348	150240369	20874698	899	29172										
ULBP3	79465	genome.wustl.edu	37	chr6	150386782	150386782	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catcggcttcacactcacaaGacatcctgacctgcagcgtg	8	15	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:150386782G>C	ENST00000367339.2	-	3	408	c.380C>G	c.(379-381)tCt>tGt	p.S127C	ULBP3_ENST00000438272.2_Missense_Mutation_p.S127C			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	127	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACACTCACAAGACATCCTGAC	0.507																																																	0													105	100	102					6																	150386782		2203	4300	6503	SO:0001583	missense	79465			AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.380C>G	6.37:g.150386782G>C	ENSP00000356308:p.Ser127Cys		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.S127C	ENST00000367339.2	37	c.380	CCDS5225.1	6	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044413	0.19748	.	.	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00724	5.78;5.78	3.34	-6.69	0.01772	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00384	0.0012	L	0.42245	1.32	0.09310	N	1	P;P	0.45011	0.848;0.848	P;P	0.49421	0.61;0.61	T	0.28038	-1.0056	9	0.36615	T	0.2	0.0016	4.8638	0.13598	0.1521:0.5721:0.1615:0.1143	.	127;127	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	C	78;127;127;127	ENSP00000356308:S127C;ENSP00000403562:S127C	ENSP00000253335:S127C	S	-	2	0	ULBP3	150428475	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.468000	0.00120	-1.583000	0.01638	-0.479000	0.04858	TCT	ULBP3	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.507	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP3	HGNC	protein_coding	OTTHUMT00000042678.2	G			150386782	-1	no_errors	ENST00000367339	ensembl	human	known	70_37	missense	SNP	0.000	C	C	150386782	G	C	150386782	3	2	160	1	0	0	0	0	1	0	0	0	17005	942	33	1	361	1	ULBP3	6	150386782	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	146413	150386782	20728285	900	29173										
SYNE1	23345	genome.wustl.edu	37	chr6	152646242	152646242	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttgttaaagcccgtccactCatccactgcatcttccagga	7	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:152646242C>G	ENST00000367255.5	-	81	16235	c.15634G>C	c.(15634-15636)Gag>Cag	p.E5212Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E5141Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4905Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5212Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5141Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5212					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGTCCACTCATCCACTGCA	0.512										HNSCC(10;0.0054)																																							0													176	148	158					6																	152646242		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15634G>C	6.37:g.152646242C>G	ENSP00000356224:p.Glu5212Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5212Q	ENST00000367255.5	37	c.15634	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958974	0.34565	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.81	5.81	0.92471	.	0.211412	0.32343	N	0.006224	T	0.36413	0.0966	M	0.81942	2.565	0.80722	D	1	D;P;P;P	0.55800	0.973;0.679;0.679;0.903	P;B;B;B	0.52646	0.705;0.218;0.218;0.39	T	0.12319	-1.0552	10	0.24483	T	0.36	.	14.2643	0.66107	0.0:0.9293:0.0:0.0707	.	5212;5212;5212;5141	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	5212;5141;5212;5141;4905	ENSP00000356224:E5212Q;ENSP00000396024:E5141Q;ENSP00000265368:E5212Q;ENSP00000390975:E5141Q;ENSP00000341887:E4905Q	ENSP00000265368:E5212Q	E	-	1	0	SYNE1	152687935	1.000000	0.71417	0.936000	0.37596	0.321000	0.28281	3.729000	0.54999	2.746000	0.94184	0.591000	0.81541	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152646242	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152646242	C	G	152646242	3	3	160	1	0	0	0	0	1	0	0	0	15475	835	29	1	11096	1	SYNE1	6	152646242	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2259460	152646242	18468825	901	29174										
ARID1B	57492	genome.wustl.edu	37	chr6	157502141	157502141	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actactggggagaagatcacGaaggtgtacgagctggggaa	16	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:157502141G>A	ENST00000350026.5	+	11	3136	c.3135G>A	c.(3133-3135)acG>acA	p.T1045T	ARID1B_ENST00000346085.5_Silent_p.T1058T|ARID1B_ENST00000367148.1_Silent_p.T1098T|ARID1B_ENST00000275248.4_Silent_p.T1040T|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1045					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAAGATCACGAAGGTGTACG	0.572																																																	0													78	63	68					6																	157502141		2203	4296	6499	SO:0001819	synonymous_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3135G>A	6.37:g.157502141G>A			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1098	ENST00000350026.5	37	c.3294	CCDS5251.2	6																																																																																			ARID1B	-	superfamily_ARID/BRIGHT_DNA-bd		0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	G	NM_020732		157502141	1	no_errors	ENST00000367148	ensembl	human	known	70_37	silent	SNP	0.344	A	A	157502141	G	A	157502141	2	1	160	1	0	0	0	0	0	0	0	1	914	1045	37	1		1	ARID1B	6	157502141	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4855899	157502141	13612926	902	29175										
SYNJ2	8871	genome.wustl.edu	37	chr6	158487619	158487619	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaggacggcggagctgacaGactggctgctcgactcgccc	14	14	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:158487619G>C	ENST00000355585.4	+	12	1744	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.D557H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D557H|SYNJ2_ENST00000449859.2_Missense_Mutation_p.D485H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	557					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGCTGACAGACTGGCTGCT	0.572																																																	0													72	67	69					6																	158487619		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1669G>C	6.37:g.158487619G>C	ENSP00000347792:p.Asp557His		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.D557H	ENST00000355585.4	37	c.1669	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444327	0.63178	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;D	0.95724	1.29;1.29;1.29;-3.79	5.27	3.44	0.39384	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.421347	0.22166	N	0.063704	D	0.96679	0.8916	M	0.85041	2.73	0.48632	D	0.999688	D;P;D;D	0.65815	0.989;0.759;0.995;0.989	P;P;D;D	0.66716	0.815;0.694;0.946;0.91	D	0.96293	0.9215	10	0.62326	D	0.03	.	10.6656	0.45728	0.0724:0.1329:0.7947:0.0	.	485;557;557;557	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	H	557;557;557;485	ENSP00000356089:D557H;ENSP00000356088:D557H;ENSP00000347792:D557H;ENSP00000388371:D485H	ENSP00000347792:D557H	D	+	1	0	SYNJ2	158407607	1.000000	0.71417	0.815000	0.32552	0.320000	0.28249	7.889000	0.87307	0.857000	0.35407	0.374000	0.22700	GAC	SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	G			158487619	1	no_errors	ENST00000355585	ensembl	human	known	70_37	missense	SNP	1.000	C	C	158487619	G	C	158487619	3	2	160	1	0	0	0	0	1	0	0	0	15483	942	33	1	1715	1	SYNJ2	6	158487619	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	985478	158487619	12627448	903	29176										
SYNJ2	8871	genome.wustl.edu	37	chr6	158492751	158492751	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcttcatatgtagtcacctGacggccgggcagtcccaggt	12	12	2	1	rs114458065	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:158492751G>C	ENST00000355585.4	+	15	2133	c.2058G>C	c.(2056-2058)ctG>ctC	p.L686L	SYNJ2_ENST00000367121.3_Silent_p.L686L|SYNJ2_ENST00000367122.2_Silent_p.L686L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	686					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTAGTCACCTGACGGCCGGGC	0.612																																																	0													81	76	78					6																	158492751		2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2058G>C	6.37:g.158492751G>C			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.L686	ENST00000355585.4	37	c.2058	CCDS5254.1	6																																																																																			SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.612	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	G			158492751	1	no_errors	ENST00000355585	ensembl	human	known	70_37	silent	SNP	1.000	C	C	158492751	G	C	158492751	2	2	160	1	0	0	0	0	0	0	0	1	15483	1277	45	1		1	SYNJ2	6	158492751	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5132	158492751	12622316	904	29177										
LPA	4018	genome.wustl.edu	37	chr6	161026196	161026196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgataactctgtccatttcCgtggtagcactcctgcaccc	7	14	1	1	rs369601677		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:161026196C>T	ENST00000316300.5	-	18	2871	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	LPA_ENST00000447678.1_Missense_Mutation_p.G943R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3451	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTCCATTTCCGTGGTAGCAC	0.463																																																	0								C	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	282	291	288		2827	0.1	0	6		288	0,8600		0,0,4300	no	missense	LPA	NM_005577.2	125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	943/2041	161026196	1,13003	2202	4300	6502	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2827G>A	6.37:g.161026196C>T	ENSP00000321334:p.Gly943Arg		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G943R	ENST00000316300.5	37	c.2827	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	5.987	0.366029	0.11352	2.27E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67865	-0.29;-0.29	2.16	0.0839	0.14435	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.73636	0.3612	H	0.94222	3.51	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62618	-0.6816	9	0.27785	T	0.31	.	5.7666	0.18229	0.0:0.6847:0.0:0.3153	.	3451	P08519	APOA_HUMAN	R	943	ENSP00000321334:G943R;ENSP00000395608:G943R	ENSP00000321334:G943R	G	-	1	0	LPA	160946186	0.003000	0.15002	0.009000	0.14445	0.059000	0.15707	1.559000	0.36320	-0.251000	0.09542	-1.109000	0.02080	GGA	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	C	NM_005577		161026196	-1	no_errors	ENST00000316300	ensembl	human	known	70_37	missense	SNP	0.017	T	T	161026196	C	T	161026196	3	4	160	1	0	0	0	0	1	0	0	0	8926	661	23	2	3383	2	LPA	6	161026196	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2533445	161026196	10088871	905	29178										
MAP3K4	4216	genome.wustl.edu	37	chr6	161532882	161532882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttaggtgccaatatcttcCttacctcatctggattaatc	5	10	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:161532882C>G	ENST00000392142.4	+	24	4559	c.4411C>G	c.(4411-4413)Ctt>Gtt	p.L1471V	MAP3K4_ENST00000366919.2_Missense_Mutation_p.L1421V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L1467V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L1417V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAATATCTTCCTTACCTCATC	0.433																																																	0													225	204	211					6																	161532882		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4411C>G	6.37:g.161532882C>G	ENSP00000375986:p.Leu1471Val		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.L1471V	ENST00000392142.4	37	c.4411	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083696	0.76642	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.66954	0.2842	N	0.25060	0.705	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.999;1.0	D;D;D;D	0.91635	0.993;0.974;0.997;0.999	T	0.69386	-0.5159	10	0.45353	T	0.12	-26.0045	18.9174	0.92512	0.0:1.0:0.0:0.0	.	1467;407;1421;1471	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	V	1421;1471;1421;1467;1417	ENSP00000355886:L1421V;ENSP00000375986:L1471V;ENSP00000355887:L1467V;ENSP00000297332:L1417V	ENSP00000297332:L1417V	L	+	1	0	MAP3K4	161452872	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	4.858000	0.62947	2.529000	0.85273	0.557000	0.71058	CTT	MAP3K4	-	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		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161532882	1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	G	G	161532882	C	G	161532882	3	3	160	1	0	0	0	0	1	0	0	0	9275	681	24	4	4505	4	MAP3K4	6	161532882	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	506686	161532882	9582185	906	29179										
MLLT4	4301	genome.wustl.edu	37	chr6	168272989	168272989	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagaaaagaaggaaaaaaaGaagagagaaaaagaggcatt	11	1	0	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:168272989G>A	ENST00000447894.2	+	4	510	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MLLT4_ENST00000344191.4_Silent_p.K170K|MLLT4_ENST00000392108.3_Silent_p.K170K|MLLT4_ENST00000366806.2_Silent_p.K170K|MLLT4_ENST00000351017.4_Silent_p.K170K|MLLT4_ENST00000392112.1_Silent_p.K169K|MLLT4_ENST00000400822.3_Silent_p.K169K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	170	Glu/Lys-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		aggaaaaaaagaagagagaaa	0.398			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													87	93	91					6																	168272989		2203	4299	6502	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.510G>A	6.37:g.168272989G>A			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.K170	ENST00000447894.2	37	c.510		6																																																																																			MLLT4	-	NULL		0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168272989	1	no_errors	ENST00000366806	ensembl	human	known	70_37	silent	SNP	1.000	A	A	168272989	G	A	168272989	2	1	160	1	0	0	0	0	0	0	0	1	9652	933	33	1		1	MLLT4	6	168272989	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6740107	168272989	2842078	907	29180										
MLLT4	4301	genome.wustl.edu	37	chr6	168349156	168349156	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcattccagtattgcaattCaggttagaaatcaaagattc	6	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:168349156C>G	ENST00000447894.2	+	28	3808	c.3808C>G	c.(3808-3810)Cag>Gag	p.Q1270E	MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1270E|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1270E|MLLT4_ENST00000366806.2_Missense_Mutation_p.Q1270E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1277E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1253E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1269E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1270					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATTGCAATTCAGGTTAGAAA	0.408			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													63	59	60					6																	168349156		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3808C>G	6.37:g.168349156C>G	ENSP00000404595:p.Gln1270Glu		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q1270E	ENST00000447894.2	37	c.3808		6	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125037	0.37533	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04454	3.83;3.73;3.83;3.83;3.62;3.73;3.73	5.52	5.52	0.82312	.	0.067302	0.64402	D	0.000010	T	0.03348	0.0097	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B	0.29481	0.245;0.048;0.003;0.001	B;B;B;B	0.27500	0.08;0.023;0.006;0.004	T	0.43556	-0.9384	10	0.46703	T	0.11	-2.7951	19.4413	0.94821	0.0:1.0:0.0:0.0	.	1270;1269;1270;1254	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	1270;1277;1270;1270;1253;1270;1269;1270	ENSP00000341118:Q1270E;ENSP00000252692:Q1277E;ENSP00000375956:Q1270E;ENSP00000355771:Q1270E;ENSP00000375960:Q1253E;ENSP00000383623:Q1269E;ENSP00000404595:Q1270E	ENSP00000345834:Q1270E	Q	+	1	0	MLLT4	168092005	1.000000	0.71417	0.953000	0.39169	0.272000	0.26649	6.304000	0.72800	2.577000	0.86979	0.655000	0.94253	CAG	MLLT4	-	NULL		0.408	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168349156	1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	0.998	G	G	168349156	C	G	168349156	3	3	160	1	0	0	0	0	1	0	0	0	9652	827	29	1	3918	1	MLLT4	6	168349156	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	76167	168349156	2765911	908	29181										
TCTE3	6991	genome.wustl.edu	37	chr6	170143221	170143221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataaataatacttttataatGaacttataacggtggtaccc	5	6	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:170143221G>A	ENST00000366774.3	-	3	541	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	147					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTTTATAATGAACTTATAAC	0.353																																																	0													91	105	100					6																	170143221		2202	4299	6501	SO:0001819	synonymous_variant	6991			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"Tctex1 domain containing 3"	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.441C>T	6.37:g.170143221G>A				Silent	SNP	pfam_Tctex	p.F147	ENST00000366774.3	37	c.441	CCDS5310.1	6																																																																																			TCTE3	-	pfam_Tctex		0.353	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	HGNC	protein_coding	OTTHUMT00000043243.1	G	NM_174910		170143221	-1	no_errors	ENST00000366774	ensembl	human	known	70_37	silent	SNP	0.997	A	A	170143221	G	A	170143221	2	1	160	1	0	0	0	0	0	0	0	1	15748	1281	45	1		1	TCTE3	6	170143221	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1794065	170143221	971846	909	29182										
DLL1	28514	genome.wustl.edu	37	chr6	170593005	170593005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatcccggcaggtgcccccGttggcgcacggggaggaggc	17	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr6:170593005G>A	ENST00000366756.3	-	9	1695	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	454	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGGTGCCCCCGTTGGCGCACG	0.692																																																	0													15	15	15					6																	170593005		2194	4293	6487	SO:0001819	synonymous_variant	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1362C>T	6.37:g.170593005G>A			B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.N454	ENST00000366756.3	37	c.1362	CCDS5313.1	6																																																																																			DLL1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.692	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	G			170593005	-1	no_errors	ENST00000366756	ensembl	human	known	70_37	silent	SNP	0.821	A	A	170593005	G	A	170593005	2	1	160	1	0	0	0	0	0	0	0	1	4576	1136	40	2		2	DLL1	6	170593005	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	449784	170593005	522062	910	29183										
INTS1	26173	genome.wustl.edu	37	chr7	1515923	1515923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgtcaccttcctgacactctCatcgtccccacagcagcagc	6	19	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:1515923C>T	ENST00000404767.3	-	38	5405	c.5320G>A	c.(5320-5322)Gag>Aag	p.E1774K	INTS1_ENST00000389470.4_Missense_Mutation_p.E1978K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1774					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGACACTCTCATCGTCCCCA	0.697																																																	0													11	13	13					7																	1515923		2140	4243	6383	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5320G>A	7.37:g.1515923C>T	ENSP00000385722:p.Glu1774Lys		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.E1978K	ENST00000404767.3	37	c.5932	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	8.784	0.929032	0.18131	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.45276	0.93;0.9	5.12	4.24	0.50183	.	0.205916	0.49916	N	0.000130	T	0.30916	0.0780	L	0.33137	0.985	0.38777	D	0.954673	B	0.13594	0.008	B	0.12837	0.008	T	0.11842	-1.0571	10	0.16896	T	0.51	.	13.1209	0.59325	0.0:0.9222:0.0:0.0778	.	1774	Q8N201	INT1_HUMAN	K	1774;1978	ENSP00000385722:E1774K;ENSP00000374121:E1978K	ENSP00000374121:E1978K	E	-	1	0	INTS1	1482449	0.986000	0.35501	0.002000	0.10522	0.012000	0.07955	2.963000	0.49184	1.155000	0.42497	0.561000	0.74099	GAG	INTS1	-	NULL		0.697	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1515923	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.771	T	T	1515923	C	T	1515923	3	4	160	1	0	0	0	0	1	0	0	0	7795	835	29	1	1296	1	INTS1	7	1515923	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		1515923	157622740	911	29184										
MMD2	221938	genome.wustl.edu	37	chr7	4959870	4959870	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgaagaggccgcagaggccGaggccgtagatccaggcaga	16	11	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:4959870G>T	ENST00000404774.3	-	3	416	c.222C>A	c.(220-222)ctC>ctA	p.L74L	MMD2_ENST00000406755.1_Silent_p.L74L|MMD2_ENST00000401401.3_Silent_p.L74L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	74						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CGCAGAGGCCGAGGCCGTAGA	0.622																																																	0													44	50	48					7																	4959870		2061	4180	6241	SO:0001819	synonymous_variant	221938			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.222C>A	7.37:g.4959870G>T			B5MBW4|Q6NVU5|Q6TCH0	Silent	SNP	pfam_HlyIII-related	p.L74	ENST00000404774.3	37	c.222	CCDS47529.1	7																																																																																			MMD2	-	pfam_HlyIII-related		0.622	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	G	NM_198403		4959870	-1	no_errors	ENST00000404774	ensembl	human	known	70_37	silent	SNP	0.000	T	T	4959870	G	T	4959870	2	4	160	1	0	0	0	0	0	0	0	1	9667	1045	37	3		3	MMD2	7	4959870	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3443947	4959870	154178793	912	29185										
TNRC18	84629	genome.wustl.edu	37	chr7	5372257	5372257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcgcggcccctaccttcCtggggtccttcctgtccttt	9	18	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5372257C>T	ENST00000430969.1	-	19	6491	c.6143G>A	c.(6142-6144)aGg>aAg	p.R2048K	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2048K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2048							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCTACCTTCCTGGGGTCCTT	0.731																																																	0													5	6	6					7																	5372257		1420	3310	4730	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6143G>A	7.37:g.5372257C>T	ENSP00000395538:p.Arg2048Lys		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R2048K	ENST00000430969.1	37	c.6143	CCDS47534.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.33|15.33	2.802384|2.802384	0.50315|0.50315	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000455076|ENST00000399537;ENST00000430969;ENST00000399544	.|T;T	.|0.11385	.|2.78;2.78	4.2|4.2	3.05|3.05	0.35203|0.35203	.|.	.|.	.|.	.|.	.|.	T|T	0.07593|0.07593	0.0191|0.0191	L|L	0.36672|0.36672	1.1|1.1	0.21020|0.21020	N|N	0.999804|0.999804	.|B	.|0.26147	.|0.143	.|B	.|0.22386	.|0.039	T|T	0.32402|0.32402	-0.9908|-0.9908	5|9	.|0.02654	.|T	.|1	.|.	10.8178|10.8178	0.46587|0.46587	0.0:0.884:0.0:0.116|0.0:0.884:0.0:0.116	.|.	.|2048	.|O15417	.|TNC18_HUMAN	R|K	85|2048;2048;1103	.|ENSP00000382452:R2048K;ENSP00000395538:R2048K	.|ENSP00000382452:R2048K	G|R	-|-	1|2	0|0	TNRC18|TNRC18	5338783|5338783	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	0.834000|0.834000	0.27518|0.27518	1.864000|1.864000	0.54056|0.54056	0.484000|0.484000	0.47621|0.47621	GGA|AGG	TNRC18	-	NULL		0.731	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5372257	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5372257	C	T	5372257	3	4	160	1	0	0	0	0	1	0	0	0	16369	681	24	4	2811	4	TNRC18	7	5372257	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	412387	5372257	153766406	913	29186										
FSCN1	6624	genome.wustl.edu	37	chr7	5632933	5632933	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggaccgcctgtcctgcttCgcgcagacggtgtcccccgc	13	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5632933C>G	ENST00000382361.3	+	1	480	c.366C>G	c.(364-366)ttC>ttG	p.F122L	FSCN1_ENST00000340250.6_Missense_Mutation_p.F101L	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	122					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TGTCCTGCTTCGCGCAGACGG	0.672																																																	0													24	22	22					7																	5632933		2198	4288	6486	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.366C>G	7.37:g.5632933C>G	ENSP00000371798:p.Phe122Leu		A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.F122L	ENST00000382361.3	37	c.366	CCDS5342.1	7	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218135	0.79464	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.20881	2.04;2.04	3.9	3.9	0.45041	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.88450	2.955	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.63959	-0.6519	10	0.87932	D	0	4.0E-4	14.4684	0.67499	0.0:1.0:0.0:0.0	.	122	Q16658	FSCN1_HUMAN	L	101;122	ENSP00000339729:F101L;ENSP00000371798:F122L	ENSP00000339729:F101L	F	+	3	2	FSCN1	5599459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.819000	0.39022	1.729000	0.51567	0.462000	0.41574	TTC	FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.672	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5632933	1	no_errors	ENST00000382361	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5632933	C	G	5632933	3	3	160	1	0	0	0	0	1	0	0	0	6085	883	31	1	368	1	FSCN1	7	5632933	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	260676	5632933	153505730	914	29187										
FSCN1	6624	genome.wustl.edu	37	chr7	5632988	5632988	+	Missense_Mutation	SNP	C	C	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcacatcgccatgcaccctCaggtcaacatctacagcgtc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5632988C>G	ENST00000382361.3	+	1	535	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	FSCN1_ENST00000340250.6_Missense_Mutation_p.Q120E	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	141					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CATGCACCCTCAGGTCAACAT	0.701																																																	0													42	34	37					7																	5632988		2202	4298	6500	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.421C>G	7.37:g.5632988C>G	ENSP00000371798:p.Gln141Glu		A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.Q141E	ENST00000382361.3	37	c.421	CCDS5342.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328834	0.81690	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.55052	0.54;1.16	3.9	2.93	0.34026	Actin cross-linking (1);	0.000000	0.64402	D	0.000001	T	0.66538	0.2799	M	0.86651	2.83	0.58432	D	0.999999	D	0.63880	0.993	P	0.53988	0.739	T	0.74103	-0.3773	10	0.87932	D	0	-0.052	10.8006	0.46487	0.1901:0.8099:0.0:0.0	.	141	Q16658	FSCN1_HUMAN	E	120;141	ENSP00000339729:Q120E;ENSP00000371798:Q141E	ENSP00000339729:Q120E	Q	+	1	0	FSCN1	5599514	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.483000	0.60264	1.729000	0.51567	0.462000	0.41574	CAG	FSCN1	-	superfamily_Actin_cross-linking		0.701	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5632988	1	no_errors	ENST00000382361	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5632988	C	G	5632988	3	3	160	1	0	0	0	0	1	0	0	0	6085	827	29	1	423	1	FSCN1	7	5632988	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	55	5632988	153505675	915	29188	185	2								
FSCN1	6624	genome.wustl.edu	37	chr7	5632993	5632993	+	Silent	SNP	C	C	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcgccatgcaccctcaggtCaacatctacagcgtcacccg					rs546819317		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:5632993C>G	ENST00000382361.3	+	1	540	c.426C>G	c.(424-426)gtC>gtG	p.V142V	FSCN1_ENST00000340250.6_Silent_p.V121V	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	142					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACCCTCAGGTCAACATCTACA	0.701																																																	0													41	34	36					7																	5632993		2202	4298	6500	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.426C>G	7.37:g.5632993C>G			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.V142	ENST00000382361.3	37	c.426	CCDS5342.1	7																																																																																			FSCN1	-	superfamily_Actin_cross-linking		0.701	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5632993	1	no_errors	ENST00000382361	ensembl	human	known	70_37	silent	SNP	0.997	G	G	5632993	C	G	5632993	2	3	160	1	0	0	0	0	0	0	0	1	6085	813	29	1		1	FSCN1	7	5632993	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5	5632993	153505670	916	29189	185	2								
EIF2AK1	27102	genome.wustl.edu	37	chr7	6066550	6066550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catttctgttccaaacggctGaaagagctctagcaggacca	9	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:6066550G>A	ENST00000199389.6	-	14	1719	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.Q401*	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CCAAACGGCTGAAAGAGCTCT	0.448																																																	0													103	101	101					7																	6066550		2203	4300	6503	SO:0001587	stop_gained	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1573C>T	7.37:g.6066550G>A	ENSP00000199389:p.Gln525*		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Nonsense_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.Q525*	ENST00000199389.6	37	c.1573	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.398194	0.99159	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	.	.	.	5.72	5.72	0.89469	.	0.056465	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-23.9578	19.8946	0.96949	0.0:0.0:1.0:0.0	.	.	.	.	X	525;401	.	ENSP00000199389:Q525X	Q	-	1	0	EIF2AK1	6033076	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.476000	0.97823	2.711000	0.92665	0.655000	0.94253	CAG	EIF2AK1	-	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		0.448	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	G	NM_014413		6066550	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	6066550	G	A	6066550	4	1	160	1	0	0	0	0	0	1	0	0	5006	1299	45	1	327	1	EIF2AK1	7	6066550	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	433557	6066550	153072113	917	29190										
PHF14	9678	genome.wustl.edu	37	chr7	11101423	11101423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgtttttttccagagaacCagaggacgaaaacgaagctt	9	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:11101423C>T	ENST00000403050.3	+	15	2939	c.2487C>T	c.(2485-2487)acC>acT	p.T829T	PHF14_ENST00000445996.2_Silent_p.T544T	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	829					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		tCCAGAGAACCAGAGGACGAA	0.284																																																	0													45	45	45					7																	11101423		1771	4010	5781	SO:0001819	synonymous_variant	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2487C>T	7.37:g.11101423C>T			A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T829	ENST00000403050.3	37	c.2487	CCDS47542.1	7																																																																																			PHF14	-	NULL		0.284	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	C	NM_014660		11101423	1	no_errors	ENST00000403050	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11101423	C	T	11101423	2	4	160	1	0	0	0	0	0	0	0	1	11849	581	21	4		4	PHF14	7	11101423	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5034873	11101423	148037240	918	29191										
THSD7A	221981	genome.wustl.edu	37	chr7	11676040	11676040	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtacctgagctcctcggcctCgcatggactggattggcaca	12	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:11676040C>G	ENST00000423059.4	-	2	990	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	247	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E247K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCTCGGCCTCGCATGGACTG	0.632										HNSCC(18;0.044)																																							1	Substitution - Missense(1)	breast(1)											52	50	50					7																	11676040		2068	4203	6271	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.739G>C	7.37:g.11676040C>G	ENSP00000406482:p.Glu247Gln			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E247Q	ENST00000423059.4	37	c.739	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	3.372	-0.128156	0.06753	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58940	0.3	5.62	4.75	0.60458	.	0.150621	0.64402	D	0.000014	T	0.49830	0.1580	L	0.46157	1.445	0.37457	D	0.915063	B	0.23185	0.081	B	0.28709	0.093	T	0.50285	-0.8846	10	0.22109	T	0.4	.	11.4625	0.50219	0.0:0.8103:0.0:0.1897	.	247	Q9UPZ6	THS7A_HUMAN	Q	247	ENSP00000406482:E247Q	ENSP00000262042:E247Q	E	-	1	0	THSD7A	11642565	0.000000	0.05858	0.041000	0.18516	0.005000	0.04900	0.020000	0.13466	1.520000	0.48965	-0.224000	0.12420	GAG	THSD7A	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.632	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11676040	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	0.606	G	G	11676040	C	G	11676040	3	3	160	1	0	0	0	0	1	0	0	0	15909	893	31	1	4338	1	THSD7A	7	11676040	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	574617	11676040	147462623	919	29192										
SCIN	85477	genome.wustl.edu	37	chr7	12675747	12675747	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttggatcggtcccttggagGacaggctgtgcaggttggga	18	7	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:12675747G>C	ENST00000297029.5	+	10	1498	c.1397G>C	c.(1396-1398)gGa>gCa	p.G466A	SCIN_ENST00000445618.2_Missense_Mutation_p.G219A|SCIN_ENST00000519209.1_Missense_Mutation_p.G219A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	466	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCCTTGGAGGACAGGCTGTG	0.478																																																	0													82	81	81					7																	12675747		1984	4172	6156	SO:0001583	missense	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1397G>C	7.37:g.12675747G>C	ENSP00000297029:p.Gly466Ala		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.G466A	ENST00000297029.5	37	c.1397	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106702	0.56291	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.55052	0.54;0.54;0.54	5.44	5.44	0.79542	Gelsolin domain (1);	0.186087	0.45606	D	0.000351	T	0.55970	0.1954	M	0.74546	2.27	0.47245	D	0.99936	P	0.35493	0.505	B	0.40477	0.33	T	0.61422	-0.7066	10	0.66056	D	0.02	-19.1648	9.5713	0.39429	0.1618:0.0:0.8382:0.0	.	466	Q9Y6U3	ADSV_HUMAN	A	466;219;219	ENSP00000297029:G466A;ENSP00000430997:G219A;ENSP00000390189:G219A	ENSP00000297029:G466A	G	+	2	0	SCIN	12642272	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.488000	0.66869	2.540000	0.85666	0.655000	0.94253	GGA	SCIN	-	pfam_Gelsolin_dom,smart_Gelsolin		0.478	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	G	NM_033128		12675747	1	no_errors	ENST00000297029	ensembl	human	known	70_37	missense	SNP	0.993	C	C	12675747	G	C	12675747	3	2	160	1	0	0	0	0	1	0	0	0	13935	1174	41	1	1435	1	SCIN	7	12675747	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	999707	12675747	146462916	920	29193										
AGR2	10551	genome.wustl.edu	37	chr7	16840805	16840805	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggcactcatccaagtgatGaataatcatcaagggtttgt	10	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:16840805G>C	ENST00000419304.2	-	4	378	c.226C>G	c.(226-228)Cat>Gat	p.H76D	AGR2_ENST00000401412.1_Missense_Mutation_p.H76D|AGR2_ENST00000486219.1_5'Flank|AGR2_ENST00000419572.2_Missense_Mutation_p.H96D	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	76					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCAAGTGATGAATAATCATC	0.368																																																	0													87	89	89					7																	16840805		2203	4300	6503	SO:0001583	missense	10551			AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.226C>G	7.37:g.16840805G>C	ENSP00000391490:p.His76Asp			Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.H96D	ENST00000419304.2	37	c.286	CCDS5364.1	7	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624762	0.66901	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412;ENST00000412973	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.5	5.5	0.81552	Thioredoxin-like fold (2);	0.157772	0.56097	D	0.000027	T	0.70850	0.3271	M	0.84683	2.71	0.42362	D	0.992414	P	0.45348	0.856	D	0.71184	0.972	T	0.74674	-0.3586	10	0.87932	D	0	-21.5719	19.001	0.92834	0.0:0.0:1.0:0.0	.	76	O95994	AGR2_HUMAN	D	76;6;96;76;76	ENSP00000391490:H76D;ENSP00000388342:H96D;ENSP00000386025:H76D;ENSP00000411969:H76D	ENSP00000386025:H76D	H	-	1	0	AGR2	16807330	1.000000	0.71417	0.991000	0.47740	0.839000	0.47603	6.847000	0.75404	2.591000	0.87537	0.655000	0.94253	CAT	AGR2	-	superfamily_Thioredoxin-like_fold		0.368	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGR2	HGNC	protein_coding	OTTHUMT00000207594.2	G	NM_006408		16840805	-1	no_errors	ENST00000419572	ensembl	human	known	70_37	missense	SNP	0.999	C	C	16840805	G	C	16840805	3	2	160	1	0	0	0	0	1	0	0	0	395	1290	45	1	321	1	AGR2	7	16840805	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4165058	16840805	142297858	921	29194										
ABCB5	340273	genome.wustl.edu	37	chr7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctttcttctatccatgtcGcccagatgttttcatcctcc	4	15	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:20782555G>A	ENST00000404938.2	+	25	3732	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1027	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468																																																	0													142	134	137					7																	20782555		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3080G>A	7.37:g.20782555G>A	ENSP00000384881:p.Arg1027His		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R582H	ENST00000404938.2	37	c.1745	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627434	0.87560	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90788	-2.73;-2.73	4.96	4.06	0.47325	ABC transporter-like (1);	0.000000	0.52532	D	0.000069	D	0.91382	0.7281	L	0.28694	0.88	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91792	0.5444	10	0.87932	D	0	.	12.7195	0.57134	0.0833:0.0:0.9167:0.0	.	1027;582	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1027;582	ENSP00000384881:R1027H;ENSP00000258738:R582H	ENSP00000258738:R582H	R	+	2	0	ABCB5	20749080	0.997000	0.39634	0.998000	0.56505	0.940000	0.58332	6.253000	0.72453	2.575000	0.86900	0.650000	0.86243	CGC	ABCB5	-	pfscan_ABC_transporter-like		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	G	NM_178559		20782555	1	no_errors	ENST00000258738	ensembl	human	known	70_37	missense	SNP	0.998	A	A	20782555	G	A	20782555	3	1	160	1	0	0	0	0	1	0	0	0	44	1087	38	2	3215	2	ABCB5	7	20782555	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3941750	20782555	138356108	922	29195										
DNAH11	8701	genome.wustl.edu	37	chr7	21726796	21726796	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctggtaccgggaaaacaGagaccaccaaagacctagga	11	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:21726796G>C	ENST00000409508.3	+	33	5732	c.5701G>C	c.(5701-5703)Gag>Cag	p.E1901Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1908Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1908	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGGGAAAACAGAGACCACCAA	0.428									Kartagener syndrome																																								0													91	93	92					7																	21726796		1879	4127	6006	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5701G>C	7.37:g.21726796G>C	ENSP00000475939:p.Glu1901Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1908Q	ENST00000409508.3	37	c.5722		7	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653725	0.67472	.	.	ENSG00000105877	ENST00000328843	T	0.14144	2.53	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24368	-1.0162	9	0.87932	D	0	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	1908	Q96DT5	DYH11_HUMAN	Q	1908	ENSP00000330671:E1908Q	ENSP00000330671:E1908Q	E	+	1	0	DNAH11	21693321	1.000000	0.71417	0.997000	0.53966	0.081000	0.17604	9.756000	0.98918	2.769000	0.95229	0.563000	0.77884	GAG	DNAH11	-	smart_AAA+_ATPase		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21726796	1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21726796	G	C	21726796	3	2	160	1	0	0	0	0	1	0	0	0	4609	943	33	1	5853	1	DNAH11	7	21726796	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	944241	21726796	137411867	923	29196										
MGC87042	256227	genome.wustl.edu	37	chr7	22532205	22532205	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaatatagtgaaattctctCcatgtcaaagagtcactcac	6	9	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:22532205C>T	ENST00000406890.2	-	4	778	c.684G>A	c.(682-684)tgG>tgA	p.W228*	STEAP1B_ENST00000404369.4_Nonsense_Mutation_p.W247*	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	228						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						GAAATTCTCTCCATGTCAAAG	0.368																																																	0													19	23	22					7																	22532205		691	1589	2280	SO:0001587	stop_gained	256227				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.684G>A	7.37:g.22532205C>T	ENSP00000385239:p.Trp228*		B5MCI2	Nonsense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.W228*	ENST00000406890.2	37	c.684	CCDS55094.1	7	.	.	.	.	.	.	.	.	.	.	c	29.8	5.040034	0.93630	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363	.	.	.	0.893	0.893	0.19236	.	0.000000	0.42964	U	0.000626	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1281	7.7632	0.28965	0.0:1.0:0.0:0.0	.	.	.	.	X	228;247;247	.	ENSP00000384370:W247X	W	-	3	0	STEAP1B	22498730	1.000000	0.71417	0.997000	0.53966	0.380000	0.30137	5.629000	0.67798	0.816000	0.34421	0.121000	0.15741	TGG	STEAP1B	-	pfam_Fe3_Rdtase_TM_dom		0.368	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STEAP1B	HGNC	protein_coding	OTTHUMT00000326617.2	C			22532205	-1	no_errors	ENST00000406890	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	22532205	C	T	22532205	4	4	160	1	0	0	0	0	0	1	0	0	9577	856	30	1	332	1	MGC87042	7	22532205	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	805409	22532205	136606458	924	29197										
JAZF1	221895	genome.wustl.edu	37	chr7	27935034	27935034	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgggcagcatctgtcatgaAtctgaaacaataatggaagg	12	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:27935034A>T	ENST00000283928.5	-	3	355	c.190T>A	c.(190-192)Ttc>Atc	p.F64I		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	64					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCTGTCATGAATCTGAAACAA	0.488			T	SUZ12	endometrial stromal tumours																																			Dom	yes		7	7p15.2-p15.1	221895	juxtaposed with another zinc finger gene 1		M	0													51	50	51					7																	27935034		2203	4300	6503	SO:0001630	splice_region_variant	221895			BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.189-1T>A	7.37:g.27935034A>T			A4D195|Q8N3L7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.F64I	ENST00000283928.5	37	c.190	CCDS5416.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.8|28.8	4.955797|4.955797	0.92726|0.92726	.|.	.|.	ENSG00000153814|ENSG00000153814	ENST00000427814|ENST00000283928;ENST00000430432;ENST00000447620;ENST00000420835	.|T	.|0.80304	.|-1.36	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87791|0.87791	0.6266|0.6266	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|D	.|0.69142	.|0.962	D|D	0.88822|0.88822	0.3299|0.3299	5|10	.|0.66056	.|D	.|0.02	-18.561|-18.561	15.5309|15.5309	0.75960|0.75960	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|64	.|Q86VZ6	.|JAZF1_HUMAN	E|I	50|64;31;40;79	.|ENSP00000283928:F64I	.|ENSP00000283928:F64I	D|F	-|-	3|1	2|0	JAZF1|JAZF1	27901559|27901559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.962000|8.962000	0.93254|0.93254	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	GAT|TTC	JAZF1	-	NULL		0.488	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAZF1	HGNC	protein_coding	OTTHUMT00000250382.2	A	NM_175061	Missense_Mutation	27935034	-1	no_errors	ENST00000283928	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27935034	A	T	27935034	5	4	160	1	0	0	0	0	0	0	1	0	7966	115	4	5	553	5	JAZF1	7	27935034	Splice_Site	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	5402829	27935034	131203629	925	29198										
CREB5	9586	genome.wustl.edu	37	chr7	28844035	28844035	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcaccctcaaccccatcacCagcagaaccatccacatcac	2	21	4	1	rs559296613	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:28844035C>T	ENST00000357727.2	+	8	1312	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q275*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q275*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q169*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q301*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	308					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						accccatcaccagcagaacca	0.617																																																	0													588	336	421					7																	28844035		2203	4300	6503	SO:0001587	stop_gained	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.922C>T	7.37:g.28844035C>T	ENSP00000350359:p.Gln308*		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Nonsense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.Q308*	ENST00000357727.2	37	c.922	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021702	0.93462	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	.	.	.	5.51	5.51	0.81932	.	0.358324	0.32703	N	0.005753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9746	19.0859	0.93202	0.0:1.0:0.0:0.0	.	.	.	.	X	275;308;301;275;134;169	.	ENSP00000350359:Q308X	Q	+	1	0	CREB5	28810560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.623000	0.88846	0.579000	0.79373	CAG	CREB5	-	pirsf_TF_cAMP-dep		0.617	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28844035	1	no_errors	ENST00000357727	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	28844035	C	T	28844035	4	4	160	1	0	0	0	0	0	1	0	0	3865	595	21	4	1003	4	CREB5	7	28844035	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	909001	28844035	130294628	926	29199										
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31121330	31121330	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatgtctgtatttttcaggaGagtctgattttggtgacagt	11	4	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:31121330G>A	ENST00000304166.4	+	6	578	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E97K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E97K|ADCYAP1R1_ENST00000409363.1_Intron	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	97					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTTTCAGGAGAGTCTGATTT	0.498																																					Ovarian(44;225 1186 2158 11092)												0													161	141	148					7																	31121330		2203	4300	6503	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.289G>A	7.37:g.31121330G>A	ENSP00000306620:p.Glu97Lys		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.E97K	ENST00000304166.4	37	c.289	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027407	0.35797	.	.	ENSG00000078549	ENST00000304166;ENST00000396211;ENST00000409489	T;T;T	0.47528	1.17;0.85;0.84	4.7	4.7	0.59300	GPCR, family 2, extracellular hormone receptor domain (3);	0.713563	0.13929	N	0.353003	T	0.37348	0.1000	L	0.29908	0.895	0.26644	N	0.972236	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.14035	-1.0487	10	0.37606	T	0.19	.	13.3454	0.60571	0.0:0.0:1.0:0.0	.	97;97;97;97	B7ZLA7;Q17S10;E9PFU5;P41586	.;.;.;PACR_HUMAN	K	97	ENSP00000306620:E97K;ENSP00000379514:E97K;ENSP00000386395:E97K	ENSP00000306620:E97K	E	+	1	0	ADCYAP1R1	31087855	0.947000	0.32204	0.780000	0.31762	0.963000	0.63663	1.638000	0.37165	2.595000	0.87683	0.655000	0.94253	GAG	ADCYAP1R1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt		0.498	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	G	NM_001118		31121330	1	no_errors	ENST00000304166	ensembl	human	known	70_37	missense	SNP	0.733	A	A	31121330	G	A	31121330	3	1	160	1	0	0	0	0	1	0	0	0	303	943	33	1	307	1	ADCYAP1R1	7	31121330	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2277295	31121330	128017333	927	29200										
CCDC129	223075	genome.wustl.edu	37	chr7	31614227	31614227	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctggggtttggtgctgatGagccagacatctgcatgcaa	13	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:31614227G>T	ENST00000407970.3	+	7	507	c.469G>T	c.(469-471)Gag>Tag	p.E157*	CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E183*|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Nonsense_Mutation_p.E157*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E65*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	157										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGTGCTGATGAGCCAGACAT	0.453																																																	0													140	147	145					7																	31614227		2203	4300	6503	SO:0001587	stop_gained	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.469G>T	7.37:g.31614227G>T	ENSP00000384416:p.Glu157*		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	NULL	p.E183*	ENST00000407970.3	37	c.547	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521766	0.64747	.	.	ENSG00000180347	ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	5.66	4.78	0.61160	.	0.072287	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.17	14.9667	0.71198	0.0691:0.0:0.9309:0.0	.	.	.	.	X	157;157;157;157;183;167;65	.	.	E	+	1	0	CCDC129	31580752	1.000000	0.71417	0.501000	0.27601	0.709000	0.40893	6.257000	0.72480	1.381000	0.46364	0.563000	0.77884	GAG	CCDC129	-	NULL		0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	G	NM_194300		31614227	1	no_errors	ENST00000451887	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	31614227	G	T	31614227	4	4	160	1	0	0	0	0	0	1	0	0	2769	1291	45	3	491	3	CCDC129	7	31614227	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	492897	31614227	127524436	928	29201										
KBTBD2	25948	genome.wustl.edu	37	chr7	32909521	32909521	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaataacagtacatgaggttCagtgtcatcacataaatgca	7	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:32909521C>T	ENST00000304056.4	-	4	2007	c.1308G>A	c.(1306-1308)ctG>ctA	p.L436L	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	436										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ACATGAGGTTCAGTGTCATCA	0.453																																																	0													144	116	126					7																	32909521		2203	4300	6503	SO:0001819	synonymous_variant	25948			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1308G>A	7.37:g.32909521C>T			A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L436	ENST00000304056.4	37	c.1308	CCDS34614.1	7																																																																																			KBTBD2	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD2	HGNC	protein_coding	OTTHUMT00000328890.1	C	XM_291224		32909521	-1	no_errors	ENST00000304056	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32909521	C	T	32909521	2	4	160	1	0	0	0	0	0	0	0	1	8013	813	29	1		1	KBTBD2	7	32909521	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1295294	32909521	126229142	929	29202										
CDK13	8621	genome.wustl.edu	37	chr7	40041617	40041617	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagaagatgctttggatttCaagaaggacaaaggtatgtg	12	3	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:40041617C>G	ENST00000181839.4	+	5	2945	c.2340C>G	c.(2338-2340)ttC>ttG	p.F780L	CDK13_ENST00000340829.5_Missense_Mutation_p.F780L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTTTGGATTTCAAGAAGGACA	0.303																																																	0													53	56	55					7																	40041617		2202	4297	6499	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2340C>G	7.37:g.40041617C>G	ENSP00000181839:p.Phe780Leu		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.F780L	ENST00000181839.4	37	c.2340	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772971	0.69992	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.74315	-0.83;-0.77	5.5	1.66	0.24008	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71341	0.3328	N	0.20530	0.585	0.58432	D	0.999992	B;D;P	0.71674	0.309;0.998;0.756	B;D;P	0.76071	0.267;0.987;0.77	T	0.65228	-0.6219	8	.	.	.	-10.7698	6.9761	0.24677	0.0:0.4721:0.0:0.5279	.	166;780;780	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	L	780	ENSP00000181839:F780L;ENSP00000340557:F780L	.	F	+	3	2	CDK13	40008142	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.546000	0.45778	0.371000	0.24564	-0.670000	0.03821	TTC	CDK13	-	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		0.303	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40041617	1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40041617	C	G	40041617	3	3	160	1	0	0	0	0	1	0	0	0	3134	825	29	1	2358	1	CDK13	7	40041617	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7132096	40041617	119097046	930	29203										
HECW1	23072	genome.wustl.edu	37	chr7	43484309	43484309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaggaggagggagatgtgtCtaccctggagcagggagagg	21	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:43484309C>T	ENST00000395891.2	+	11	2143	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F	HECW1_ENST00000453890.1_Missense_Mutation_p.S513F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	513	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						gGAGATGTGTCTACCCTGGAG	0.632																																																	0													27	34	31					7																	43484309		2132	4223	6355	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1538C>T	7.37:g.43484309C>T	ENSP00000379228:p.Ser513Phe		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S513F	ENST00000395891.2	37	c.1538	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541694	0.45280	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34072	1.41;1.38	5.12	5.12	0.69794	.	1.424000	0.03740	N	0.254761	T	0.37839	0.1018	L	0.34521	1.04	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.37833	0.133;0.259	T	0.49011	-0.8983	10	0.87932	D	0	.	14.9834	0.71327	0.0:0.8569:0.143:0.0	.	513;513	B4DH42;Q76N89	.;HECW1_HUMAN	F	513	ENSP00000379228:S513F;ENSP00000407774:S513F	ENSP00000265522:S513F	S	+	2	0	HECW1	43450834	0.000000	0.05858	0.004000	0.12327	0.207000	0.24258	0.094000	0.15107	2.370000	0.80446	0.561000	0.74099	TCT	HECW1	-	NULL		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43484309	1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	0.007	T	T	43484309	C	T	43484309	3	4	160	1	0	0	0	0	1	0	0	0	7062	913	32	1	1572	1	HECW1	7	43484309	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3442692	43484309	115654354	931	29204										
BLVRA	644	genome.wustl.edu	37	chr7	43843292	43843292	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctggcccgttggaagaaGagcggtttggcttccctgca	14	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:43843292G>C	ENST00000402924.1	+	8	641	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	BLVRA_ENST00000265523.4_Missense_Mutation_p.E160Q	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	160				E -> D (in Ref. 2; CAA63635). {ECO:0000305}.	heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GTTGGAAGAAGAGCGGTTTGG	0.592																																																	0													176	182	180					7																	43843292		2203	4300	6503	SO:0001583	missense	644			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.478G>C	7.37:g.43843292G>C	ENSP00000385757:p.Glu160Gln		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.E160Q	ENST00000402924.1	37	c.478	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872547	0.33069	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25250	1.81;1.81	4.32	4.32	0.51571	Biliverdin reductase, catalytic (2);	0.631921	0.17003	N	0.190848	T	0.22936	0.0554	L	0.40543	1.245	0.30653	N	0.755191	B	0.27625	0.183	B	0.31337	0.128	T	0.10660	-1.0620	10	0.24483	T	0.36	.	12.6995	0.57024	0.0:0.0:1.0:0.0	.	160	P53004	BIEA_HUMAN	Q	160	ENSP00000265523:E160Q;ENSP00000385757:E160Q	ENSP00000265523:E160Q	E	+	1	0	BLVRA	43809817	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.223000	0.32527	2.115000	0.64714	0.561000	0.74099	GAG	BLVRA	-	pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A		0.592	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	G	NM_000712		43843292	1	no_errors	ENST00000265523	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43843292	G	C	43843292	3	2	160	1	0	0	0	0	1	0	0	0	1452	943	33	1	500	1	BLVRA	7	43843292	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	358983	43843292	115295371	932	29205										
NUDCD3	23386	genome.wustl.edu	37	chr7	44524810	44524810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcttcctcttcctttcttCtgattttctcttcaagttcc	2	15	6	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:44524810C>T	ENST00000355451.7	-	2	545	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	89										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TTCCTTTCTTCTGATTTTCTC	0.473																																																	0													73	80	78					7																	44524810		2203	4299	6502	SO:0001583	missense	23386			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.266G>A	7.37:g.44524810C>T	ENSP00000347626:p.Arg89Lys		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.R89K	ENST00000355451.7	37	c.266	CCDS5490.2	7	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064023	0.20067	.	.	ENSG00000015676	ENST00000355451	T	0.55760	0.5	5.45	5.45	0.79879	.	0.280965	0.41001	D	0.000969	T	0.37156	0.0993	N	0.16656	0.425	0.38287	D	0.942584	B	0.23591	0.088	B	0.21360	0.034	T	0.25537	-1.0129	10	0.26408	T	0.33	-16.7975	15.1103	0.72351	0.0:1.0:0.0:0.0	.	89	Q8IVD9	NUDC3_HUMAN	K	89	ENSP00000347626:R89K	ENSP00000347626:R89K	R	-	2	0	NUDCD3	44491335	0.991000	0.36638	0.411000	0.26484	0.966000	0.64601	0.875000	0.28079	2.705000	0.92388	0.563000	0.77884	AGA	NUDCD3	-	NULL		0.473	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	HGNC	protein_coding	OTTHUMT00000251248.3	C	NM_015332		44524810	-1	no_errors	ENST00000355451	ensembl	human	known	70_37	missense	SNP	0.915	T	T	44524810	C	T	44524810	3	4	160	1	0	0	0	0	1	0	0	0	10748	913	32	1	839	1	NUDCD3	7	44524810	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	681518	44524810	114613853	933	29206										
ZMIZ2	83637	genome.wustl.edu	37	chr7	44796622	44796622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtgtggcagggggcagctCcgccttgacctccccacagt	14	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:44796622C>T	ENST00000309315.4	+	4	365	c.242C>T	c.(241-243)tCc>tTc	p.S81F	ZMIZ2_ENST00000433667.1_Intron|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S81F|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S81F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	81	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGGGCAGCTCCGCCTTGACC	0.642																																					NSCLC(20;604 852 1948 16908 50522)												0													62	66	65					7																	44796622		2010	4152	6162	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.242C>T	7.37:g.44796622C>T	ENSP00000311778:p.Ser81Phe		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.S81F	ENST00000309315.4	37	c.242	CCDS43576.1	7	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707057	0.68615	.	.	ENSG00000122515	ENST00000457123;ENST00000309315;ENST00000441627;ENST00000265346;ENST00000414051	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.04	5.04	0.67666	.	0.711986	0.12672	N	0.448714	T	0.30823	0.0777	N	0.22421	0.69	0.25147	N	0.990454	P;P	0.42649	0.786;0.773	P;B	0.47251	0.542;0.392	T	0.14671	-1.0464	10	0.51188	T	0.08	-4.4652	13.8737	0.63638	0.0:0.8471:0.1528:0.0	.	81;81	Q8NF64-2;Q8NF64	.;ZMIZ2_HUMAN	F	81	ENSP00000415501:S81F;ENSP00000311778:S81F;ENSP00000414723:S81F;ENSP00000265346:S81F	ENSP00000265346:S81F	S	+	2	0	ZMIZ2	44763147	0.587000	0.26791	0.932000	0.37286	0.934000	0.57294	1.909000	0.39917	2.601000	0.87937	0.655000	0.94253	TCC	ZMIZ2	-	NULL		0.642	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1	C	NM_031449		44796622	1	no_errors	ENST00000309315	ensembl	human	known	70_37	missense	SNP	0.676	T	T	44796622	C	T	44796622	3	4	160	1	0	0	0	0	1	0	0	0	17727	855	30	1	252	1	ZMIZ2	7	44796622	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	271812	44796622	114342041	934	29207										
ABCA13	154664	genome.wustl.edu	37	chr7	48315793	48315793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctttaaaaaatatatctaGagcaggcaattttgatgttg	7	5	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:48315793G>C	ENST00000435803.1	+	17	6554	c.6530G>C	c.(6529-6531)aGa>aCa	p.R2177T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2177					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATATATCTAGAGCAGGCAAT	0.353																																																	0													29	27	28					7																	48315793		1801	4063	5864	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6530G>C	7.37:g.48315793G>C	ENSP00000411096:p.Arg2177Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2177T	ENST00000435803.1	37	c.6530	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057424	0.07317	.	.	ENSG00000179869	ENST00000435803	T	0.22945	1.93	4.99	2.1	0.27182	.	0.227351	0.30901	N	0.008646	T	0.21921	0.0528	M	0.66939	2.045	0.09310	N	1	B	0.25235	0.121	B	0.21546	0.035	T	0.18777	-1.0326	9	.	.	.	.	4.5558	0.12136	0.2821:0.1632:0.5547:0.0	.	2177	Q86UQ4	ABCAD_HUMAN	T	2177	ENSP00000411096:R2177T	.	R	+	2	0	ABCA13	48286339	0.923000	0.31300	0.000000	0.03702	0.072000	0.16883	0.536000	0.23129	0.206000	0.20587	0.484000	0.47621	AGA	ABCA13	-	NULL		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48315793	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.001	C	C	48315793	G	C	48315793	3	2	160	1	0	0	0	0	1	0	0	0	31	942	33	1	6425	1	ABCA13	7	48315793	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3519171	48315793	110822870	935	29208										
ABCA13	154664	genome.wustl.edu	37	chr7	48431563	48431563	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccacttctggaaccatcatCatcaatggcaagaacctaca	5	14	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:48431563C>G	ENST00000435803.1	+	38	11724	c.11700C>G	c.(11698-11700)atC>atG	p.I3900M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3900	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAACCATCATCATCAATGGCA	0.532																																																	0													89	88	88					7																	48431563		1995	4168	6163	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11700C>G	7.37:g.48431563C>G	ENSP00000411096:p.Ile3900Met		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I3900M	ENST00000435803.1	37	c.11700	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380534	0.42207	.	.	ENSG00000179869	ENST00000435803	D	0.93859	-3.3	5.17	-0.854	0.10705	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.837651	0.09891	U	0.742360	D	0.88880	0.6557	N	0.17278	0.47	0.09310	N	1	P;P	0.51653	0.865;0.947	P;P	0.55222	0.588;0.771	T	0.79577	-0.1746	10	0.62326	D	0.03	.	1.9005	0.03267	0.1375:0.3826:0.2715:0.2084	.	1602;3900	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	M	3900	ENSP00000411096:I3900M	ENSP00000411096:I3900M	I	+	3	3	ABCA13	48402109	0.000000	0.05858	0.000000	0.03702	0.694000	0.40290	0.183000	0.16919	-0.065000	0.13021	0.467000	0.42956	ATC	ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.532	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48431563	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.001	G	G	48431563	C	G	48431563	3	3	160	1	0	0	0	0	1	0	0	0	31	816	29	1	11679	1	ABCA13	7	48431563	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	115770	48431563	110707100	936	29209										
COBL	23242	genome.wustl.edu	37	chr7	51098509	51098509	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcggatcaggtggttcttacCttccaggtcttcatcaagtt	10	10	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:51098509C>T	ENST00000265136.7	-	9	1669	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	COBL_ENST00000395542.2_Splice_Site_p.E584K	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	502					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTTCTTACCTTCCAGGTCT	0.418																																					NSCLC(189;2119 2138 12223 30818 34679)												0													174	163	167					7																	51098509		2203	4300	6503	SO:0001630	splice_region_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1504+1G>A	7.37:g.51098509C>T			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E584K	ENST00000265136.7	37	c.1750	CCDS34637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083949|3.083949	0.55861|0.55861	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000452534	T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.493626|.	0.17185|.	N|.	0.183729|.	T|T	0.50854|0.50854	0.1640|0.1640	L|L	0.27053|0.27053	0.805|0.805	0.34227|0.34227	D|D	0.676112|0.676112	B;B;P;P;P|.	0.52316|.	0.187;0.187;0.651;0.867;0.952|.	B;B;B;B;B|.	0.43916|.	0.152;0.152;0.212;0.382;0.436|.	T|T	0.58335|0.58335	-0.7654|-0.7654	9|5	.|.	.|.	.|.	.|.	17.6761|17.6761	0.88232|0.88232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	502;559;502;584;44|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	K|K	502;394;387;584|477	ENSP00000265136:E502K;ENSP00000401204:E394K;ENSP00000413498:E387K;ENSP00000378912:E584K|.	.|.	E|R	-|-	1|2	0|0	COBL|COBL	51066003|51066003	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.691000|0.691000	0.40173|0.40173	5.431000|5.431000	0.66507|0.66507	2.503000|2.503000	0.84419|0.84419	0.650000|0.650000	0.86243|0.86243	GAA|AGA	COBL	-	NULL		0.418	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	C	NM_015198	Missense_Mutation	51098509	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51098509	C	T	51098509	5	4	160	1	0	0	0	0	0	0	1	0	3658	695	24	4	2301	4	COBL	7	51098509	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2666946	51098509	108040154	937	29210										
ZNF92	168374	genome.wustl.edu	37	chr7	64863490	64863490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataaatatgtgaaagtctttCataaatttccaaatgtaaat	4	4	2	1	rs377733062		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:64863490C>T	ENST00000328747.7	+	4	662	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	ZNF92_ENST00000357512.2_Missense_Mutation_p.H123Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.H79Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.H86Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	155					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAAGTCTTTCATAAATTTCC	0.318																																																	0													49	52	51					7																	64863490		2203	4296	6499	SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.463C>T	7.37:g.64863490C>T	ENSP00000332595:p.His155Tyr		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H155Y	ENST00000328747.7	37	c.463	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.198108	0.01594	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.27557	2.49;1.66;1.66;1.66	0.427	-0.854	0.10705	.	.	.	.	.	T	0.21881	0.0527	L	0.50847	1.595	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.19666	0.014;0.026	T	0.35176	-0.9799	8	0.16896	T	0.51	.	.	.	.	.	123;155	Q03936-3;Q03936	.;ZNF92_HUMAN	Y	155;79;123;86	ENSP00000332595:H155Y;ENSP00000400495:H79Y;ENSP00000350113:H123Y;ENSP00000396126:H86Y	ENSP00000332595:H155Y	H	+	1	0	ZNF92	64500925	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.866000	0.04245	-0.514000	0.06488	-0.518000	0.04402	CAT	ZNF92	-	NULL		0.318	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	C	NM_152626		64863490	1	no_errors	ENST00000328747	ensembl	human	known	70_37	missense	SNP	0.000	T	T	64863490	C	T	64863490	3	4	160	1	0	0	0	0	1	0	0	0	18231	826	29	1	477	1	ZNF92	7	64863490	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	13764981	64863490	94275173	938	29211										
GUSB	2990	genome.wustl.edu	37	chr7	65439917	65439917	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaacacacgtccgcatcctCatgcttgttgacaccgtgga	8	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65439917C>T	ENST00000304895.4	-	6	1184	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000345660.6_Intron|GUSB_ENST00000421103.1_Missense_Mutation_p.E206K	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	352					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCCGCATCCTCATGCTTGTTG	0.572																																																	0													117	112	114					7																	65439917		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1054G>A	7.37:g.65439917C>T	ENSP00000302728:p.Glu352Lys		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.E352K	ENST00000304895.4	37	c.1054	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.248825	0.95305	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.96774	-4.12;-4.12	5.06	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.151699	0.64402	N	0.000014	D	0.98883	0.9622	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99453	1.0941	10	0.87932	D	0	.	17.6083	0.88045	0.0:1.0:0.0:0.0	.	206;352	E9PCV0;P08236	.;BGLR_HUMAN	K	352;206	ENSP00000302728:E352K;ENSP00000391390:E206K	ENSP00000302728:E352K	E	-	1	0	GUSB	65077352	1.000000	0.71417	0.984000	0.44739	0.763000	0.43281	7.455000	0.80726	2.622000	0.88805	0.561000	0.74099	GAG	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2		0.572	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	C	NM_000181		65439917	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65439917	C	T	65439917	3	4	160	1	0	0	0	0	1	0	0	0	6922	835	29	1	929	1	GUSB	7	65439917	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	576427	65439917	93698746	939	29212										
ASL	435	genome.wustl.edu	37	chr7	65551611	65551611	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccggggtacacccatttgcaGagggcccagcccatccgctg	12	16	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65551611G>C	ENST00000304874.9	+	7	588	c.486G>C	c.(484-486)caG>caC	p.Q162H	ASL_ENST00000395331.3_Missense_Mutation_p.Q162H|ASL_ENST00000380839.4_Missense_Mutation_p.Q162H|ASL_ENST00000395332.3_Missense_Mutation_p.Q162H|AC068533.7_ENST00000450043.1_5'Flank	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	162					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCATTTGCAGAGGGCCCAGC	0.642																																																	0													54	49	51					7																	65551611		2203	4300	6503	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.486G>C	7.37:g.65551611G>C	ENSP00000307188:p.Gln162His		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.Q162H	ENST00000304874.9	37	c.486	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	g	18.72	3.684643	0.68157	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5;-6.5	5.8	4.93	0.64822	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.119284	0.64402	D	0.000017	D	0.99846	0.9929	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.995;0.998;0.998	D	0.96705	0.9521	10	0.87932	D	0	.	12.4276	0.55556	0.0774:0.0:0.9226:0.0	.	162;162;162;162	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	H	162;162;162;97;162	ENSP00000307188:Q162H;ENSP00000370219:Q162H;ENSP00000378741:Q162H;ENSP00000354710:Q97H;ENSP00000378740:Q162H	ENSP00000307188:Q162H	Q	+	3	2	ASL	65189046	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	1.193000	0.32162	1.467000	0.48044	0.655000	0.94253	CAG	ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase		0.642	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	G	NM_000048		65551611	1	no_errors	ENST00000304874	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65551611	G	C	65551611	3	2	160	1	0	0	0	0	1	0	0	0	1045	933	33	1	508	1	ASL	7	65551611	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	111694	65551611	93587052	940	29213										
CRCP	27297	genome.wustl.edu	37	chr7	65617276	65617276	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaccagcattctgcctgcaGagccagaggctgagcagaag	12	12	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65617276G>C	ENST00000395326.3	+	6	737	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000338592.5_Missense_Mutation_p.E94Q|RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000415001.2_Missense_Mutation_p.E94Q|CRCP_ENST00000398684.2_Missense_Mutation_p.E50Q|CRCP_ENST00000431089.2_Missense_Mutation_p.E120Q	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	127					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						TCTGCCTGCAGAGCCAGAGGC	0.527																																																	0													79	69	72					7																	65617276		2203	4300	6503	SO:0001583	missense	27297			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.379G>C	7.37:g.65617276G>C	ENSP00000378736:p.Glu127Gln		A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.E127Q	ENST00000395326.3	37	c.379	CCDS5532.1	7	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995926	0.35226	.	.	ENSG00000241258	ENST00000395326;ENST00000431089;ENST00000398684;ENST00000338592;ENST00000415001	.	.	.	5.27	5.27	0.74061	HRDC-like (1);RNA polymerase II, Rpb4, core (1);	0.346769	0.32769	N	0.005667	T	0.21590	0.0520	N	0.22421	0.69	0.09310	N	1	P;B;B;B	0.44006	0.824;0.052;0.209;0.079	B;B;B;B	0.32624	0.124;0.028;0.149;0.058	T	0.19811	-1.0294	8	.	.	.	-4.6061	14.2716	0.66155	0.0:0.0:1.0:0.0	.	120;50;94;127	B4E198;A8MUZ4;O75575-2;O75575	.;.;.;RPC9_HUMAN	Q	127;120;50;94;94	.	.	E	+	1	0	CRCP	65254711	1.000000	0.71417	0.116000	0.21606	0.905000	0.53344	4.588000	0.60999	2.752000	0.94435	0.655000	0.94253	GAG	CRCP	-	superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core		0.527	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2	G	NM_014478		65617276	1	no_errors	ENST00000395326	ensembl	human	known	70_37	missense	SNP	0.249	C	C	65617276	G	C	65617276	3	2	160	1	0	0	0	0	1	0	0	0	3857	943	33	1	491	1	CRCP	7	65617276	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	65665	65617276	93521387	941	29214										
CRCP	27297	genome.wustl.edu	37	chr7	65617299	65617299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagaggctgagcagaagaaGaatacaaacagcaatgtggc	12	8	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65617299G>C	ENST00000395326.3	+	6	760	c.402G>C	c.(400-402)aaG>aaC	p.K134N	CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000338592.5_Missense_Mutation_p.K101N|RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000415001.2_Missense_Mutation_p.K101N|CRCP_ENST00000398684.2_Missense_Mutation_p.K57N|CRCP_ENST00000431089.2_Missense_Mutation_p.K127N	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	134					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						AGCAGAAGAAGAATACAAACA	0.547																																																	0													80	68	72					7																	65617299		2203	4300	6503	SO:0001583	missense	27297			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.402G>C	7.37:g.65617299G>C	ENSP00000378736:p.Lys134Asn		A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.K134N	ENST00000395326.3	37	c.402	CCDS5532.1	7	.	.	.	.	.	.	.	.	.	.	G	8.497	0.863325	0.17250	.	.	ENSG00000241258	ENST00000395326;ENST00000431089;ENST00000398684;ENST00000338592;ENST00000415001	.	.	.	4.4	-8.8	0.00817	.	0.672212	0.15455	N	0.261423	T	0.17874	0.0429	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.34462	0.454;0.0;0.145;0.004	B;B;B;B	0.27380	0.079;0.0;0.033;0.008	T	0.02617	-1.1133	8	.	.	.	-1.0585	10.238	0.43294	0.1366:0.381:0.4825:0.0	.	127;57;101;134	B4E198;A8MUZ4;O75575-2;O75575	.;.;.;RPC9_HUMAN	N	134;127;57;101;101	.	.	K	+	3	2	CRCP	65254734	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.644000	0.05415	-1.996000	0.00970	-1.078000	0.02229	AAG	CRCP	-	NULL		0.547	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2	G	NM_014478		65617299	1	no_errors	ENST00000395326	ensembl	human	known	70_37	missense	SNP	0.000	C	C	65617299	G	C	65617299	3	2	160	1	0	0	0	0	1	0	0	0	3857	933	33	1	514	1	CRCP	7	65617299	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	23	65617299	93521364	942	29215										
TPST1	8460	genome.wustl.edu	37	chr7	65821815	65821815	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctttccttcaacagactGagcaagtggagtagcagaac	9	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:65821815G>A	ENST00000304842.5	+	5	1524	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	367					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCAACAGACTGAGCAAGTGGA	0.527																																																	0													93	88	90					7																	65821815		2203	4300	6503	SO:0001583	missense	8460			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.1099G>A	7.37:g.65821815G>A	ENSP00000302413:p.Glu367Lys		A4D2M0|Q6FGM7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E367K	ENST00000304842.5	37	c.1099	CCDS5533.1	7	.	.	.	.	.	.	.	.	.	.	G	7.809	0.715338	0.15306	.	.	ENSG00000169902	ENST00000304842	.	.	.	5.02	3.16	0.36331	.	0.468130	0.22147	N	0.063963	T	0.09818	0.0241	N	0.01048	-1.04	0.27245	N	0.959033	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	9	0.06494	T	0.89	-1.4139	7.0575	0.25107	0.0929:0.173:0.734:0.0	.	367	O60507	TPST1_HUMAN	K	367	.	ENSP00000302413:E367K	E	+	1	0	TPST1	65459250	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	3.375000	0.52410	0.786000	0.33708	-0.150000	0.13652	GAG	TPST1	-	NULL		0.527	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2	G	NM_003596		65821815	1	no_errors	ENST00000304842	ensembl	human	known	70_37	missense	SNP	0.980	A	A	65821815	G	A	65821815	3	1	160	1	0	0	0	0	1	0	0	0	16458	1291	45	1	1113	1	TPST1	7	65821815	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	204516	65821815	93316848	943	29216										
WBSCR17	64409	genome.wustl.edu	37	chr7	70853384	70853384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtggatgacaacagcgacGaaggtacaggggtggctgac	17	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:70853384G>A	ENST00000333538.5	+	3	1220	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	196	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D195>?(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAACAGCGACGAAGGTACAGG	0.582																																																	1	Complex(1)	lung(1)											107	77	87					7																	70853384		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.586G>A	7.37:g.70853384G>A	ENSP00000329654:p.Glu196Lys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E196K	ENST00000333538.5	37	c.586	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658767	0.47467	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.59638	0.25;0.25	5.58	4.71	0.59529	Glycosyl transferase, family 2 (1);	0.061598	0.64402	D	0.000007	T	0.31420	0.0796	N	0.01464	-0.85	0.58432	D	0.999998	P	0.45957	0.869	B	0.42959	0.403	T	0.29243	-1.0018	10	0.19147	T	0.46	.	14.1869	0.65612	0.0718:0.0:0.9282:0.0	.	196	Q6IS24	GLTL3_HUMAN	K	196;174	ENSP00000329654:E196K;ENSP00000392019:E174K	ENSP00000329654:E196K	E	+	1	0	WBSCR17	70491320	1.000000	0.71417	0.977000	0.42913	0.027000	0.11550	6.588000	0.74076	1.506000	0.48736	-0.123000	0.14984	GAA	WBSCR17	-	pfam_Glyco_trans_2		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		70853384	1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	0.998	A	A	70853384	G	A	70853384	3	1	160	1	0	0	0	0	1	0	0	0	17295	1059	37	1	596	1	WBSCR17	7	70853384	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5031569	70853384	88285279	944	29217										
MLXIPL	51085	genome.wustl.edu	37	chr7	73008611	73008611	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggctcacgtacttggccgGagagcgggcagagagcagta	16	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:73008611G>C	ENST00000313375.3	-	16	2480	c.2433C>G	c.(2431-2433)ctC>ctG	p.L811L	MLXIPL_ENST00000414749.2_Silent_p.L809L|MLXIPL_ENST00000395189.1_Silent_p.L718L|MLXIPL_ENST00000354613.1_Silent_p.L790L|MLXIPL_ENST00000434326.1_Silent_p.L717L|MLXIPL_ENST00000429400.2_Silent_p.L792L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	811					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TACTTGGCCGGAGAGCGGGCA	0.622																																																	0													83	75	78					7																	73008611		2203	4300	6503	SO:0001819	synonymous_variant	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2433C>G	7.37:g.73008611G>C			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L811	ENST00000313375.3	37	c.2433	CCDS5553.1	7																																																																																			MLXIPL	-	NULL		0.622	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73008611	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	silent	SNP	1.000	C	C	73008611	G	C	73008611	2	2	160	1	0	0	0	0	0	0	0	1	9660	1161	41	1		1	MLXIPL	7	73008611	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2155227	73008611	86130052	945	29218										
GTF2I	2969	genome.wustl.edu	37	chr7	74169840	74169840	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaatttgtttctctctttaGaccatttccaggacttgtga	6	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:74169840G>C	ENST00000324896.4	+	31	3214		c.e31-1		GTF2I_ENST00000346152.4_Splice_Site|GTF2I_ENST00000353920.4_Splice_Site|GTF2I_ENST00000416070.1_Splice_Site	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi						negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCTCTCTTTAGACCATTTCCA	0.343																																																	0													1	1	1					7																	74169840		104	199	303	SO:0001630	splice_region_variant	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2826-1G>C	7.37:g.74169840G>C			O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Splice_Site	SNP	-	e30-1	ENST00000324896.4	37	c.2826-1	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681408	0.47991	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5532	0.68081	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF2I	73807776	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.159000	0.71856	1.894000	0.54839	0.449000	0.29647	.	GTF2I	-	-		0.343	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	G	NM_032999	Intron	74169840	1	no_errors	ENST00000324896	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	74169840	G	C	74169840	5	2	160	1	0	0	0	0	0	0	1	0	6887	956	33	1	2943	1	GTF2I	7	74169840	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1161229	74169840	84968823	946	29219										
CD36	948	genome.wustl.edu	37	chr7	80300396	80300396	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctctccagttgaaaacccaGacaactattgtttctgcaca	5	13	2	2	rs150308664		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:80300396G>A	ENST00000435819.1	+	13	1606	c.922G>A	c.(922-924)Gac>Aac	p.D308N	CD36_ENST00000447544.2_Missense_Mutation_p.D308N|CD36_ENST00000544133.1_Intron|CD36_ENST00000433696.2_Missense_Mutation_p.D269N|CD36_ENST00000534394.1_Missense_Mutation_p.D232N|CD36_ENST00000538969.1_Missense_Mutation_p.D248N|CD36_ENST00000432207.1_Missense_Mutation_p.D308N|CD36_ENST00000394788.3_Missense_Mutation_p.D308N|CD36_ENST00000309881.7_Missense_Mutation_p.D308N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	308					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGAAAACCCAGACAACTATTG	0.373																																																	0													131	131	131					7																	80300396		2203	4300	6503	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.922G>A	7.37:g.80300396G>A	ENSP00000399421:p.Asp308Asn		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.D308N	ENST00000435819.1	37	c.922	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.392062	0.95988	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.71	5.71	0.89125	.	0.045838	0.85682	D	0.000000	D	0.83940	0.5363	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.83162	-0.0098	9	.	.	.	-16.8217	19.4639	0.94931	0.0:0.0:1.0:0.0	.	308	P16671	CD36_HUMAN	N	308;308;232;308;308;308;308;248;269	ENSP00000399421:D308N;ENSP00000308165:D308N;ENSP00000431296:D232N;ENSP00000378268:D308N;ENSP00000415743:D308N;ENSP00000411411:D308N;ENSP00000392298:D308N;ENSP00000439543:D248N;ENSP00000401863:D269N	.	D	+	1	0	CD36	80138332	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.128000	0.94424	2.686000	0.91538	0.585000	0.79938	GAC	CD36	-	pfam_CD36,prints_CD36_antigen		0.373	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	G	NM_001001547		80300396	1	no_errors	ENST00000309881	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80300396	G	A	80300396	3	1	160	1	0	0	0	0	1	0	0	0	3012	942	33	1	952	1	CD36	7	80300396	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6130556	80300396	78838267	947	29220										
PCLO	27445	genome.wustl.edu	37	chr7	82545481	82545481	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtggggttggtgtaggttGaacttgaggtgtgaaggaca	18	3	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:82545481G>T	ENST00000333891.9	-	7	12158	c.11821C>A	c.(11821-11823)Caa>Aaa	p.Q3941K	PCLO_ENST00000437081.1_Missense_Mutation_p.Q661K|PCLO_ENST00000423517.2_Missense_Mutation_p.Q3941K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGTAGGTTGAACTTGAGGT	0.433																																																	0													351	340	344					7																	82545481		2008	4181	6189	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11821C>A	7.37:g.82545481G>T	ENSP00000334319:p.Gln3941Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.Q3941K	ENST00000333891.9	37	c.11821	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912288	0.33721	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17370	2.28;2.29	5.6	5.6	0.85130	.	.	.	.	.	T	0.37758	0.1015	M	0.61703	1.905	0.45662	D	0.998587	D;D;D	0.60575	0.958;0.988;0.988	B;P;P	0.57911	0.369;0.829;0.829	T	0.07271	-1.0781	9	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	3872;3941;3941	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3941;3941;661	ENSP00000334319:Q3941K;ENSP00000388393:Q3941K	ENSP00000334319:Q3941K	Q	-	1	0	PCLO	82383417	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.542000	0.73869	2.652000	0.90054	0.563000	0.77884	CAA	PCLO	-	NULL		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82545481	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82545481	G	T	82545481	3	4	160	1	0	0	0	0	1	0	0	0	11607	1299	45	3	3700	3	PCLO	7	82545481	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2245085	82545481	76593182	948	29221										
DBF4	10926	genome.wustl.edu	37	chr7	87537145	87537145	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaatgaatgtgacttcaaGaatatggatagtttaccttc	7	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:87537145G>C	ENST00000265728.1	+	12	2196	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	564					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTGACTTCAAGAATATGGATA	0.363																																																	0													73	77	76					7																	87537145		2201	4290	6491	SO:0001583	missense	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1692G>C	7.37:g.87537145G>C	ENSP00000265728:p.Lys564Asn		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.K564N	ENST00000265728.1	37	c.1692	CCDS5611.1	7	.	.	.	.	.	.	.	.	.	.	G	4.119	0.020275	0.08006	.	.	ENSG00000006634	ENST00000265728	T	0.29655	1.56	4.9	0.0232	0.14136	.	0.904429	0.09518	N	0.791280	T	0.19208	0.0461	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.34304	-0.9834	10	0.13853	T	0.58	-0.0862	6.8743	0.24139	0.2204:0.5432:0.2364:0.0	.	340;564	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	N	564	ENSP00000265728:K564N	ENSP00000265728:K564N	K	+	3	2	DBF4	87375081	0.004000	0.15560	0.001000	0.08648	0.973000	0.67179	0.525000	0.22956	0.087000	0.17167	0.650000	0.86243	AAG	DBF4	-	NULL		0.363	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	G	NM_006716		87537145	1	no_errors	ENST00000265728	ensembl	human	known	70_37	missense	SNP	0.000	C	C	87537145	G	C	87537145	3	2	160	1	0	0	0	0	1	0	0	0	4253	933	33	1	1738	1	DBF4	7	87537145	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4991664	87537145	71601518	949	29222										
CDK14	5218	genome.wustl.edu	37	chr7	90356041	90356041	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaagtaaagagggtgcattCtgagaacaatgcttgcatta	10	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:90356041C>G	ENST00000380050.3	+	3	415	c.284C>G	c.(283-285)tCt>tGt	p.S95C	CDK14_ENST00000406263.1_Missense_Mutation_p.S49C|CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000265741.3_Missense_Mutation_p.S77C			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	95					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGGGTGCATTCTGAGAACAAT	0.458																																					GBM(83;1228 1256 8311 16577 31299)												0													123	108	113					7																	90356041		2203	4300	6503	SO:0001583	missense	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.284C>G	7.37:g.90356041C>G	ENSP00000369390:p.Ser95Cys		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	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.S95C	ENST00000380050.3	37	c.284		7	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920986	0.52653	.	.	ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263	T;T;T;T;T;T;T	0.71698	1.83;1.83;1.83;1.83;-0.59;-0.57;-0.56	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.27053	0.805	0.80722	D	1	P;P	0.51653	0.924;0.947	B;B	0.43360	0.394;0.417	T	0.65853	-0.6067	10	0.54805	T	0.06	-12.1539	14.9677	0.71208	0.0:0.9314:0.0:0.0686	.	77;95	O94921-2;O94921	.;CDK14_HUMAN	C	49;49;49;49;95;49;77;49	ENSP00000393616:S49C;ENSP00000410770:S49C;ENSP00000394570:S49C;ENSP00000406848:S49C;ENSP00000369390:S95C;ENSP00000265741:S77C;ENSP00000385034:S49C	ENSP00000265741:S77C	S	+	2	0	CDK14	90193977	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.074000	0.76791	1.425000	0.47237	0.563000	0.77884	TCT	CDK14	-	NULL		0.458	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	C	NM_012395		90356041	1	no_errors	ENST00000380050	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90356041	C	G	90356041	3	3	160	1	0	0	0	0	1	0	0	0	3135	913	32	1	236	1	CDK14	7	90356041	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2818896	90356041	68782622	950	29223										
CCDC132	55610	genome.wustl.edu	37	chr7	92905519	92905519	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcacttcacccaagccattCacaacaccgtgtttcaagtt	5	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:92905519C>G	ENST00000305866.5	+	12	972	c.844C>G	c.(844-846)Cac>Gac	p.H282D	CCDC132_ENST00000317751.6_Missense_Mutation_p.H13D|CCDC132_ENST00000251739.5_Missense_Mutation_p.H282D|CCDC132_ENST00000541136.1_Missense_Mutation_p.H93D|CCDC132_ENST00000544910.1_Missense_Mutation_p.H252D|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	282						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAAGCCATTCACAACACCGT	0.353																																																	0													210	186	194					7																	92905519		2203	4300	6503	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.844C>G	7.37:g.92905519C>G	ENSP00000307666:p.His282Asp		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.H282D	ENST00000305866.5	37	c.844	CCDS43617.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.105815|4.105815	0.77096|0.77096	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000458707|ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	.|T;T;T	.|0.49432	.|1.6;1.6;0.78	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Vacuolar protein sorting-associated protein 54 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62380|0.62380	0.2423|0.2423	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.56968	.|0.978;0.975;0.928	.|P;P;P	.|0.60173	.|0.792;0.87;0.719	T|T	0.58945|0.58945	-0.7546|-0.7546	5|10	.|0.39692	.|T	.|0.17	-21.9566|-21.9566	19.3335|19.3335	0.94306|0.94306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252;282;282	.|F5H5U7;Q96JG6;Q96JG6-2	.|.;CC132_HUMAN;.	L|D	68|282;282;252;93;13	.|ENSP00000251739:H282D;ENSP00000445766:H93D;ENSP00000325582:H13D	.|ENSP00000251739:H282D	F|H	+|+	3|1	2|0	CCDC132|CCDC132	92743455|92743455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.770000|7.770000	0.85390|0.85390	2.637000|2.637000	0.89404|0.89404	0.650000|0.650000	0.86243|0.86243	TTC|CAC	CCDC132	-	pfam_Vacuolar_sorting-assoc_54		0.353	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	C	NM_017667		92905519	1	no_errors	ENST00000305866	ensembl	human	known	70_37	missense	SNP	1.000	G	G	92905519	C	G	92905519	3	3	160	1	0	0	0	0	1	0	0	0	2772	826	29	1	890	1	CCDC132	7	92905519	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2549478	92905519	66233144	951	29224										
PDK4	5166	genome.wustl.edu	37	chr7	95216836	95216836	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaacaccacctcctctgtctGaaatctaaaacaaacaaaca	3	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:95216836G>A	ENST00000005178.5	-	9	1072	c.875C>T	c.(874-876)tCa>tTa	p.S292L		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	292	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCTCTGTCTGAAATCTAAAA	0.393																																																	0													57	57	57					7																	95216836		2203	4300	6503	SO:0001583	missense	5166			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.875C>T	7.37:g.95216836G>A	ENSP00000005178:p.Ser292Leu			Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.S292L	ENST00000005178.5	37	c.875	CCDS5643.1	7	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966190	0.92855	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.56941	0.43	5.61	5.61	0.85477	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82692	-0.0331	10	0.87932	D	0	.	20.0173	0.97481	0.0:0.0:1.0:0.0	.	292	Q16654	PDK4_HUMAN	L	292;256	ENSP00000005178:S292L	ENSP00000005178:S292L	S	-	2	0	PDK4	95054772	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.768000	0.47645	2.814000	0.96858	0.591000	0.81541	TCA	PDK4	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.393	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	HGNC	protein_coding	OTTHUMT00000333298.1	G	NM_002612		95216836	-1	no_errors	ENST00000005178	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95216836	G	A	95216836	3	1	160	1	0	0	0	0	1	0	0	0	11702	1294	45	1	372	1	PDK4	7	95216836	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2311317	95216836	63921827	952	29225										
TRRAP	8295	genome.wustl.edu	37	chr7	98550892	98550892	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgccccccaccacatccatGacaacaacaagaaccgcaac	4	19	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:98550892G>A	ENST00000359863.4	+	39	5754	c.5545G>A	c.(5545-5547)Gac>Aac	p.D1849N	TRRAP_ENST00000446306.3_Missense_Mutation_p.D1830N|TRRAP_ENST00000355540.3_Missense_Mutation_p.D1831N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1849					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACATCCATGACAACAACAA	0.642																																																	0													123	96	106					7																	98550892		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5545G>A	7.37:g.98550892G>A	ENSP00000352925:p.Asp1849Asn		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D1849N	ENST00000359863.4	37	c.5545	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.606522|5.606522	0.96626|0.96626	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70133|0.70133	0.3189|0.3189	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	P;P;D|.	0.67145|.	0.955;0.911;0.996|.	P;B;D|.	0.68039|.	0.549;0.433;0.955|.	T|T	0.64214|0.64214	-0.6460|-0.6460	10|5	0.62326|.	D|.	0.03|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1831;1570;1849|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	N|I	1849;1831;1829|1570	ENSP00000352925:D1849N;ENSP00000347733:D1831N|.	ENSP00000347733:D1831N|.	D|M	+|+	1|3	0|0	TRRAP|TRRAP	98388828|98388828	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	9.869000|9.869000	0.99810|0.99810	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GAC|ATG	TRRAP	-	superfamily_ARM-type_fold		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98550892	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98550892	G	A	98550892	3	1	160	1	0	0	0	0	1	0	0	0	16632	1290	45	1	5637	1	TRRAP	7	98550892	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3334056	98550892	60587771	953	29226										
ZNF394	84124	genome.wustl.edu	37	chr7	99096390	99096390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcactctctctgcagaagtCcctccgtgctgggtccaggc	11	16	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:99096390C>T	ENST00000337673.6	-	2	735	c.532G>A	c.(532-534)Gac>Aac	p.D178N	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Intron|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	178	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGCAGAAGTCCCTCCGTGCT	0.582																																					Ovarian(24;589 697 9939 12704 40742)												0													128	96	107					7																	99096390		2203	4300	6503	SO:0001583	missense	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.532G>A	7.37:g.99096390C>T	ENSP00000337363:p.Asp178Asn		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D178N	ENST00000337673.6	37	c.532	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266561	0.40095	.	.	ENSG00000160908	ENST00000337673	T	0.01560	4.77	4.31	-2.23	0.06930	Krueppel-associated box (4);	1.269780	0.05533	N	0.564361	T	0.01124	0.0037	N	0.05574	-0.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.48364	-0.9042	10	0.36615	T	0.2	.	3.7368	0.08514	0.2667:0.3842:0.0:0.3492	.	178	Q53GI3	ZN394_HUMAN	N	178	ENSP00000337363:D178N	ENSP00000337363:D178N	D	-	1	0	ZNF394	98934326	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.082000	0.03400	-0.450000	0.07107	0.563000	0.77884	GAC	ZNF394	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.582	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	C	NM_032164		99096390	-1	no_errors	ENST00000337673	ensembl	human	known	70_37	missense	SNP	0.000	T	T	99096390	C	T	99096390	3	4	160	1	0	0	0	0	1	0	0	0	17910	855	30	1	1161	1	ZNF394	7	99096390	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	545498	99096390	60042273	954	29227										
CYP3A5	1577	genome.wustl.edu	37	chr7	99262807	99262807	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttattgagagaaataatgGatctaagaaaccaaatttta	6	4	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:99262807G>C	ENST00000222982.4	-	7	751	c.652C>G	c.(652-654)Cca>Gca	p.P218A	CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000343703.5_Missense_Mutation_p.P208A|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	218					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGAAATAATGGATCTAAGAAA	0.343																																																	0													91	89	90					7																	99262807		2203	4300	6503	SO:0001583	missense	1577			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.652C>G	7.37:g.99262807G>C	ENSP00000222982:p.Pro218Ala		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.P218A	ENST00000222982.4	37	c.652	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510542	0.64522	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.67698	-0.28;-0.28	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	L	0.45470	1.425	0.80722	D	1	D;D	0.60575	0.988;0.972	P;P	0.56514	0.8;0.798	T	0.75218	-0.3395	10	0.72032	D	0.01	.	13.6162	0.62110	0.0:0.0:1.0:0.0	.	208;218	F5H4S0;P20815	.;CP3A5_HUMAN	A	218;208	ENSP00000222982:P218A;ENSP00000342969:P208A	ENSP00000222982:P218A	P	-	1	0	CYP3A5	99100743	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	8.861000	0.92277	1.854000	0.53819	0.655000	0.94253	CCA	CYP3A5	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A		0.343	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1	G			99262807	-1	no_errors	ENST00000222982	ensembl	human	known	70_37	missense	SNP	0.951	C	C	99262807	G	C	99262807	3	2	160	1	0	0	0	0	1	0	0	0	4185	1174	41	1	884	1	CYP3A5	7	99262807	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	166417	99262807	59875856	955	29228										
ZSCAN21	7589	genome.wustl.edu	37	chr7	99661584	99661584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaacaaaaccccctcttcaaGaggcaggctccaagaaaggt	9	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:99661584G>C	ENST00000292450.4	+	4	930	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E256Q|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E256Q	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	256					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTCTTCAAGAGGCAGGCTC	0.428																																																	0													89	86	87					7																	99661584		2203	4300	6503	SO:0001583	missense	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.766G>C	7.37:g.99661584G>C	ENSP00000292450:p.Glu256Gln		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E256Q	ENST00000292450.4	37	c.766	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498101	0.04291	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000379635	T;T;T	0.07688	4.24;3.17;4.24	4.71	0.737	0.18314	.	0.372075	0.19723	N	0.107521	T	0.10252	0.0251	L	0.53671	1.685	0.09310	N	1	B;P	0.52316	0.037;0.952	B;P	0.50659	0.009;0.647	T	0.16778	-1.0391	10	0.44086	T	0.13	.	1.264	0.02007	0.1964:0.1748:0.4487:0.1801	.	256;256	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	Q	256;256;256;231	ENSP00000441212:E256Q;ENSP00000292450:E256Q;ENSP00000390960:E256Q	ENSP00000292450:E256Q	E	+	1	0	ZSCAN21	99499520	0.878000	0.30173	0.003000	0.11579	0.052000	0.14988	3.744000	0.55112	-0.042000	0.13535	0.655000	0.94253	GAG	ZSCAN21	-	NULL		0.428	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	G	NM_145914		99661584	1	no_errors	ENST00000292450	ensembl	human	known	70_37	missense	SNP	0.015	C	C	99661584	G	C	99661584	3	2	160	1	0	0	0	0	1	0	0	0	18263	943	33	1	776	1	ZSCAN21	7	99661584	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	398777	99661584	59477079	956	29229										
ZAN	7455	genome.wustl.edu	37	chr7	100331801	100331801	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttagggtcctcatggttcctCcagtctggactctgctgctt	10	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100331801C>G	ENST00000348028.3	+	0	175				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGTTCCTCCAGTCTGGAC	0.592																																																	0													34	34	34					7																	100331801		1796	3796	5592			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100331801C>G			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P4A	ENST00000348028.3	37	c.10		7	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833129	0.50951	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.15952	2.42;2.42;2.38	3.74	0.601	0.17529	.	0.417365	0.17821	N	0.160842	T	0.10252	0.0251	L	0.29908	0.895	0.48452	D	0.999659	B;B	0.23891	0.093;0.056	B;B	0.27170	0.077;0.035	T	0.21177	-1.0253	10	0.87932	D	0	.	1.2955	0.02068	0.2247:0.4151:0.2198:0.1404	.	4;4	F5H0T8;Q9Y493	.;ZAN_HUMAN	A	4	ENSP00000445943:P4A;ENSP00000445091:P4A;ENSP00000444427:P4A	ENSP00000423579:P4A	P	+	1	0	ZAN	100169737	0.052000	0.20516	0.665000	0.29768	0.849000	0.48306	0.827000	0.27421	0.113000	0.18004	0.561000	0.74099	CCA	ZAN	-	NULL		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100331801	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.696	G	G	100331801	C	G	100331801	1	3	160	0	1	0	0	0	0	0	0	0	17544	855	30	1		1	ZAN	7	100331801	RNA	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	670217	100331801	58806862	957	29230										
SRRT	51593	genome.wustl.edu	37	chr7	100482396	100482396	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctaatgatgacaaaacaaaGaagtcggagggtgatgggga	14	4	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100482396G>C	ENST00000347433.4	+	8	1136	c.978G>C	c.(976-978)aaG>aaC	p.K326N	SRRT_ENST00000388793.4_Missense_Mutation_p.K326N|SRRT_ENST00000432932.1_Missense_Mutation_p.K326N|SRRT_ENST00000457580.2_Missense_Mutation_p.K326N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	326	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACAAAACAAAGAAGTCGGAGG	0.517																																																	0													67	71	70					7																	100482396		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.978G>C	7.37:g.100482396G>C	ENSP00000314491:p.Lys326Asn		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.K326N	ENST00000347433.4	37	c.978	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989334	0.35131	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T;T;T	0.41758	2.3;0.99;0.99;2.3	4.58	3.7	0.42460	.	0.220091	0.39274	N	0.001404	T	0.30541	0.0768	L	0.27053	0.805	0.43417	D	0.995566	P;P;P;B	0.34934	0.476;0.476;0.476;0.345	B;B;B;B	0.38616	0.277;0.277;0.277;0.143	T	0.07290	-1.0780	10	0.38643	T	0.18	.	8.6557	0.34062	0.1087:0.0:0.8913:0.0	.	326;326;326;326	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	326	ENSP00000416553:K326N;ENSP00000373445:K326N;ENSP00000391852:K326N;ENSP00000314491:K326N	ENSP00000314491:K326N	K	+	3	2	SRRT	100320332	1.000000	0.71417	0.989000	0.46669	0.347000	0.29111	0.810000	0.27183	1.056000	0.40484	0.491000	0.48974	AAG	SRRT	-	NULL		0.517	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482396	1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100482396	G	C	100482396	3	2	160	1	0	0	0	0	1	0	0	0	15202	933	33	1	1004	1	SRRT	7	100482396	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	150595	100482396	58656267	958	29231										
ACHE	43	genome.wustl.edu	37	chr7	100491481	100491481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttgaggtacaggcagtcctCgctcagctcacggttggggt	15	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100491481C>G	ENST00000412389.1	-	1	528	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	ACHE_ENST00000241069.5_Missense_Mutation_p.E125Q|ACHE_ENST00000302913.4_Missense_Mutation_p.E125Q|ACHE_ENST00000428317.1_Missense_Mutation_p.E125Q|ACHE_ENST00000411582.1_Missense_Mutation_p.E125Q|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.E125Q			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	125					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AGGCAGTCCTCGCTCAGCTCA	0.582																																																	0													138	124	129					7																	100491481		2203	4300	6503	SO:0001583	missense	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.373G>C	7.37:g.100491481C>G	ENSP00000394976:p.Glu125Gln		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E125Q	ENST00000412389.1	37	c.373	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537614	0.85917	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.22	5.22	0.72569	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	H	0.99806	4.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.98871	1.0766	10	0.87932	D	0	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	125;125;125;125	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Q	125	ENSP00000403474:E125Q;ENSP00000241069:E125Q;ENSP00000414858:E125Q;ENSP00000303211:E125Q;ENSP00000394976:E125Q;ENSP00000397143:E125Q;ENSP00000399725:E125Q;ENSP00000404865:E125Q;ENSP00000396360:E125Q	ENSP00000241069:E125Q	E	-	1	0	ACHE	100329417	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	7.540000	0.82074	2.414000	0.81942	0.561000	0.74099	GAG	ACHE	-	pfam_CarbesteraseB		0.582	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	C	NM_015831		100491481	-1	no_errors	ENST00000302913	ensembl	human	known	70_37	missense	SNP	0.999	G	G	100491481	C	G	100491481	3	3	160	1	0	0	0	0	1	0	0	0	141	893	31	1	1622	1	ACHE	7	100491481	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9085	100491481	58647182	959	29232										
MUC17	140453	genome.wustl.edu	37	chr7	100675173	100675173	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagtgaagaaagcatttcatCaacaatggcttttgtcagca	8	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100675173C>G	ENST00000306151.4	+	3	540	c.476C>G	c.(475-477)tCa>tGa	p.S159*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	159	Ser-rich.				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)			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)					AGCATTTCATCAACAATGGCT	0.453																																																	0													218	195	203					7																	100675173		2203	4300	6503	SO:0001587	stop_gained	140453			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.476C>G	7.37:g.100675173C>G	ENSP00000302716:p.Ser159*		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S159*	ENST00000306151.4	37	c.476	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956046	0.34471	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.801	0.801	0.18679	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	4.9541	0.14031	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000302716:S159X	S	+	2	0	MUC17	100461893	0.000000	0.05858	0.011000	0.14972	0.020000	0.10135	0.642000	0.24735	0.727000	0.32360	0.196000	0.17591	TCA	MUC17	-	NULL		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100675173	1	no_errors	ENST00000306151	ensembl	human	known	70_37	nonsense	SNP	0.006	G	G	100675173	C	G	100675173	4	3	160	1	0	0	0	0	0	1	0	0	9997	838	29	1	486	1	MUC17	7	100675173	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	183692	100675173	58463490	960	29233										
MUC17	140453	genome.wustl.edu	37	chr7	100679611	100679611	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctattaacaagtatacctgtCagcaccacgccggtggccag	9	13	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100679611C>G	ENST00000306151.4	+	3	4978	c.4914C>G	c.(4912-4914)gtC>gtG	p.V1638V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1638	59 X approximate tandem repeats.|Ser-rich.				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)			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)					GTATACCTGTCAGCACCACGC	0.493																																																	0													232	242	239					7																	100679611		2203	4300	6503	SO:0001819	synonymous_variant	140453			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.4914C>G	7.37:g.100679611C>G			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.V1638	ENST00000306151.4	37	c.4914	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100679611	1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.009	G	G	100679611	C	G	100679611	2	3	160	1	0	0	0	0	0	0	0	1	9997	813	29	1		1	MUC17	7	100679611	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4438	100679611	58459052	961	29234										
MUC17	140453	genome.wustl.edu	37	chr7	100682996	100682996	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctgccagtggccagttctGaggctagcaccgtttcaaca	10	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100682996G>C	ENST00000306151.4	+	3	8363	c.8299G>C	c.(8299-8301)Gag>Cag	p.E2767Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2767	59 X approximate tandem repeats.|Ser-rich.				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)			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)					GGCCAGTTCTGAGGCTAGCAC	0.483																																																	0													253	247	249					7																	100682996		2203	4300	6503	SO:0001583	missense	140453			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.8299G>C	7.37:g.100682996G>C	ENSP00000302716:p.Glu2767Gln		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E2767Q	ENST00000306151.4	37	c.8299	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.904	0.350871	0.11182	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	0.37	-0.741	0.11112	.	.	.	.	.	T	0.02807	0.0084	L	0.34521	1.04	0.09310	N	1	P	0.51653	0.947	P	0.53490	0.727	T	0.40459	-0.9562	9	0.14252	T	0.57	.	3.7402	0.08527	0.6564:0.0:0.3436:0.0	.	2767	Q685J3	MUC17_HUMAN	Q	2767	ENSP00000302716:E2767Q	ENSP00000302716:E2767Q	E	+	1	0	MUC17	100469716	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	0.486000	0.22340	-0.420000	0.07427	0.134000	0.15878	GAG	MUC17	-	NULL		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100682996	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.011	C	C	100682996	G	C	100682996	3	2	160	1	0	0	0	0	1	0	0	0	9997	1291	45	1	8309	1	MUC17	7	100682996	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3385	100682996	58455667	962	29235										
C7orf52	375607	genome.wustl.edu	37	chr7	100816784	100816784	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccccggcgtcgatcacgttCaccgactccagcgcgatctg	10	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100816784C>G	ENST00000300303.2	-	3	568	c.330G>C	c.(328-330)gtG>gtC	p.V110V	NAT16_ENST00000455377.1_Silent_p.V110V	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	110	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CGATCACGTTCACCGACTCCA	0.736																																																	0													20	21	21					7																	100816784		2196	4290	6486	SO:0001819	synonymous_variant	375607			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.330G>C	7.37:g.100816784C>G			B3KRS2|Q8NDR1	Silent	SNP	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V110	ENST00000300303.2	37	c.330	CCDS5713.1	7																																																																																			NAT16	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.736	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	C	NM_198571		100816784	-1	no_errors	ENST00000300303	ensembl	human	known	70_37	silent	SNP	0.224	G	G	100816784	C	G	100816784	2	3	160	1	0	0	0	0	0	0	0	1	2406	813	29	1		1	C7orf52	7	100816784	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133788	100816784	58321879	963	29236										
FIS1	51024	genome.wustl.edu	37	chr7	100883427	100883427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggccgaggctgtcacctttCttcatggccttgtcaatgag	12	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:100883427C>G	ENST00000223136.4	-	4	437	c.357G>C	c.(355-357)aaG>aaC	p.K119N	FIS1_ENST00000474120.1_3'UTR|FIS1_ENST00000442303.1_3'UTR|CLDN15_ENST00000308344.5_5'Flank|FIS1_ENST00000482199.1_5'UTR|CLDN15_ENST00000433422.1_5'Flank|CLDN15_ENST00000401528.1_5'Flank	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	119					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TGTCACCTTTCTTCATGGCCT	0.587																																																	0													139	140	140					7																	100883427		2038	4181	6219	SO:0001583	missense	51024			AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"CGI-135 protein"	609003	"tetratricopeptide repeat domain 11", "fission 1 (mitochondrial outer membrane) homolog (yeast)"	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.357G>C	7.37:g.100883427C>G	ENSP00000223136:p.Lys119Asn		Q9BTP3	Missense_Mutation	SNP	pirsf_Tetratricopeptide_rpt_11_Fis1	p.K119N	ENST00000223136.4	37	c.357	CCDS43626.1	7	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914208	0.52546	.	.	ENSG00000214253	ENST00000223136	.	.	.	5.06	4.18	0.49190	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000009	T	0.59128	0.2171	L	0.59436	1.845	0.44677	D	0.997666	B	0.22211	0.066	B	0.31337	0.128	T	0.55405	-0.8146	9	0.33141	T	0.24	.	11.128	0.48330	0.0:0.9091:0.0:0.0909	.	119	Q9Y3D6	FIS1_HUMAN	N	119	.	ENSP00000223136:K119N	K	-	3	2	FIS1	100670147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.886000	0.63149	1.156000	0.42514	0.556000	0.70494	AAG	FIS1	-	pirsf_Tetratricopeptide_rpt_11_Fis1		0.587	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIS1	HGNC	protein_coding	OTTHUMT00000347449.1	C	NM_016068		100883427	-1	no_errors	ENST00000223136	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100883427	C	G	100883427	3	3	160	1	0	0	0	0	1	0	0	0	5915	912	32	1	109	1	FIS1	7	100883427	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	66643	100883427	58255236	964	29237										
PRKRIP1	79706	genome.wustl.edu	37	chr7	102065520	102065520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggaggcatctggaacagagGaggaggaggaagtgcccagt	18	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:102065520G>A	ENST00000496391.1	+	10	1827	c.517G>A	c.(517-519)Gag>Aag	p.E173K	PRKRIP1_ENST00000462601.1_Missense_Mutation_p.E116K|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.G113E|RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.E173K			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	173	Poly-Glu.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TGGAACAGAGGAGGAGGAGGA	0.572																																																	0													54	51	52					7																	102065520		2203	4300	6503	SO:0001583	missense	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.517G>A	7.37:g.102065520G>A	ENSP00000419270:p.Glu173Lys		B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	pfam_DUF1168	p.E173K	ENST00000496391.1	37	c.517	CCDS34714.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862757|1.862757	0.32884|0.32884	.|.	.|.	ENSG00000128563|ENSG00000128563	ENST00000496391;ENST00000462601;ENST00000397912|ENST00000354783	T;T;T|T	0.42900|0.61980	0.96;0.96;0.96|0.06	3.3|3.3	3.3|3.3	0.37823|0.37823	.|.	0.189796|.	0.43579|.	N|.	0.000544|.	T|T	0.54175|0.54175	0.1842|0.1842	L|L	0.43152|0.43152	1.355|1.355	0.24192|0.24192	N|N	0.995549|0.995549	D;D|P	0.57257|0.50443	0.979;0.979|0.935	D;D|B	0.71414|0.41466	0.973;0.973|0.358	T|T	0.50065|0.50065	-0.8871|-0.8871	10|9	0.29301|0.48119	T|T	0.29|0.1	-7.6036|-7.6036	12.4081|12.4081	0.55451|0.55451	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;173|113	E9PC43;Q9H875|B4DGM2	.;PKRI1_HUMAN|.	K|E	173;116;173|113	ENSP00000419270:E173K;ENSP00000420136:E116K;ENSP00000381010:E173K|ENSP00000346837:G113E	ENSP00000381010:E173K|ENSP00000346837:G113E	E|G	+|+	1|2	0|0	PRKRIP1|PRKRIP1	101852525|101852525	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.109000|0.109000	0.19521|0.19521	3.616000|3.616000	0.54174|0.54174	2.146000|2.146000	0.66826|0.66826	0.561000|0.561000	0.74099|0.74099	GAG|GGA	PRKRIP1	-	pfam_DUF1168		0.572	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	G	NM_024653		102065520	1	no_errors	ENST00000397912	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102065520	G	A	102065520	3	1	160	1	0	0	0	0	1	0	0	0	12552	1175	41	1	539	1	PRKRIP1	7	102065520	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1182093	102065520	57073143	965	29238										
ORC5L	5001	genome.wustl.edu	37	chr7	103767296	103767296	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggctttgaagcttgttttCacaagaaatcatacaagtat	7	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:103767296C>T	ENST00000297431.4	-	14	1449	c.1307G>A	c.(1306-1308)tGa>tAa	p.*436*	ORC5_ENST00000545943.1_Silent_p.*304*	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	0					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTTGTTTTCACAAGAAATC	0.393																																																	0													105	95	98					7																	103767296		2203	4299	6502	SO:0001819	synonymous_variant	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1307G>A	7.37:g.103767296C>T			A4D0P8|O60590|O95268	Silent	SNP	NULL	p.*436	ENST00000297431.4	37	c.1307	CCDS5734.1	7																																																																																			ORC5	-	NULL		0.393	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	HGNC	protein_coding	OTTHUMT00000348286.1	C	NM_002553		103767296	-1	no_errors	ENST00000297431	ensembl	human	known	70_37	silent	SNP	1.000	T	T	103767296	C	T	103767296	2	4	160	1	0	0	0	0	0	0	0	1	11289	837	29	1		1	ORC5L	7	103767296	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1701776	103767296	55371367	966	29239										
PIK3CG	5294	genome.wustl.edu	37	chr7	106508780	106508780	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggccaagaagaaatctctGatggatattcccgaaagcca	9	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:106508780G>C	ENST00000359195.3	+	2	1084	c.774G>C	c.(772-774)ctG>ctC	p.L258L	PIK3CG_ENST00000440650.2_Silent_p.L258L|PIK3CG_ENST00000496166.1_Silent_p.L258L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	258	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAAATCTCTGATGGATATTC	0.557																																																	0													68	69	68					7																	106508780		2203	4300	6503	SO:0001819	synonymous_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.774G>C	7.37:g.106508780G>C			A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L258	ENST00000359195.3	37	c.774	CCDS5739.1	7																																																																																			PIK3CG	-	pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom		0.557	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	G			106508780	1	no_errors	ENST00000359195	ensembl	human	known	70_37	silent	SNP	0.987	C	C	106508780	G	C	106508780	2	2	160	1	0	0	0	0	0	0	0	1	11940	1277	45	1		1	PIK3CG	7	106508780	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2741484	106508780	52629883	967	29240										
COG5	10466	genome.wustl.edu	37	chr7	106851011	106851011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttttcagatggatggtcatCcagccactgagagaagcgtg	12	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:106851011C>G	ENST00000347053.3	-	20	2415	c.2365G>C	c.(2365-2367)Gat>Cat	p.D789H	COG5_ENST00000297135.3_Missense_Mutation_p.D810H|COG5_ENST00000393603.2_Missense_Mutation_p.D810H	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	789					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				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						GGATGGTCATCCAGCCACTGA	0.542																																																	0													60	50	53					7																	106851011		2203	4299	6502	SO:0001583	missense	10466			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.2365G>C	7.37:g.106851011C>G	ENSP00000334703:p.Asp789His		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.D810H	ENST00000347053.3	37	c.2428	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791729	0.90453	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.27104	1.69;1.75;1.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.68819	-0.5308	10	0.66056	D	0.02	-19.1543	18.9146	0.92499	0.0:1.0:0.0:0.0	.	789;810	Q9UP83;Q9UP83-2	COG5_HUMAN;.	H	789;810;810	ENSP00000334703:D789H;ENSP00000297135:D810H;ENSP00000377228:D810H	ENSP00000297135:D810H	D	-	1	0	COG5	106638247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.986000	0.63851	2.582000	0.87167	0.655000	0.94253	GAT	COG5	-	NULL		0.542	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	C			106851011	-1	no_errors	ENST00000297135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	106851011	C	G	106851011	3	3	160	1	0	0	0	0	1	0	0	0	3666	855	30	1	166	1	COG5	7	106851011	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	342231	106851011	52287652	968	29241										
SLC26A4	5172	genome.wustl.edu	37	chr7	107312607	107312607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcatatgccctactagctgCagttcctgtcggatatggtc	11	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:107312607C>T	ENST00000265715.3	+	4	553	c.329C>T	c.(328-330)gCa>gTa	p.A110V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	110					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTACTAGCTGCAGTTCCTGTC	0.388									Pendred syndrome																																								0													265	216	233					7																	107312607		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.329C>T	7.37:g.107312607C>T	ENSP00000265715:p.Ala110Val		B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A110V	ENST00000265715.3	37	c.329	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400022	0.83120	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.91521	-2.86;-2.86	5.12	5.12	0.69794	.	0.138155	0.48767	D	0.000162	D	0.88966	0.6581	L	0.36672	1.1	0.80722	D	1	P	0.41188	0.741	P	0.45712	0.491	D	0.90034	0.4137	10	0.66056	D	0.02	.	15.3193	0.74109	0.0:0.8598:0.1402:0.0	.	110	O43511	S26A4_HUMAN	V	110	ENSP00000265715:A110V;ENSP00000394760:A110V	ENSP00000265715:A110V	A	+	2	0	SLC26A4	107099843	1.000000	0.71417	0.991000	0.47740	0.660000	0.38997	4.367000	0.59498	2.536000	0.85505	0.561000	0.74099	GCA	SLC26A4	-	tigrfam_SulP_transpt		0.388	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	C	NM_000441		107312607	1	no_errors	ENST00000265715	ensembl	human	known	70_37	missense	SNP	0.998	T	T	107312607	C	T	107312607	3	4	160	1	0	0	0	0	1	0	0	0	14549	710	25	4	339	4	SLC26A4	7	107312607	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	461596	107312607	51826056	969	29242										
SLC26A4	5172	genome.wustl.edu	37	chr7	107342344	107342344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggatattgaagatctggagGaacttgatatcccaaccaag	10	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:107342344G>A	ENST00000265715.3	+	17	2100	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	SLC26A4_ENST00000541474.1_Missense_Mutation_p.E187K|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E195K|SLC26A4_ENST00000544569.1_Missense_Mutation_p.E213K	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	626	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGATCTGGAGGAACTTGATAT	0.398									Pendred syndrome																																								0													116	113	114					7																	107342344		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1876G>A	7.37:g.107342344G>A	ENSP00000265715:p.Glu626Lys		B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.E626K	ENST00000265715.3	37	c.1876	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519386	0.64634	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94828	-3.18;-3.46;-3.51;-3.53	5.89	5.89	0.94794	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.372260	0.29093	N	0.013166	D	0.88426	0.6433	N	0.08118	0	0.42635	D	0.993391	B;B;B	0.17667	0.001;0.002;0.023	B;B;B	0.24269	0.004;0.008;0.052	D	0.83383	0.0013	10	0.12766	T	0.61	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	187;213;626	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	K	626;187;213;195	ENSP00000265715:E626K;ENSP00000439743:E187K;ENSP00000437427:E213K;ENSP00000441209:E195K	ENSP00000265715:E626K	E	+	1	0	SLC26A4	107129580	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.136000	0.64783	2.783000	0.95769	0.655000	0.94253	GAA	SLC26A4	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	G	NM_000441		107342344	1	no_errors	ENST00000265715	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107342344	G	A	107342344	3	1	160	1	0	0	0	0	1	0	0	0	14549	1175	41	1	1938	1	SLC26A4	7	107342344	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	29737	107342344	51796319	970	29243										
C7orf66	154907	genome.wustl.edu	37	chr7	108524529	108524529	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggctccaaagtctctgatGagtgagatgaggtacagaga	14	6	1	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:108524529G>A	ENST00000379007.2	-	1	115	c.61C>T	c.(61-63)Cat>Tat	p.H21Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	21						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						AGTCTCTGATGAGTGAGATGA	0.383																																																	0													147	125	132					7																	108524529		2203	4300	6503	SO:0001583	missense	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.61C>T	7.37:g.108524529G>A	ENSP00000368292:p.His21Tyr			Missense_Mutation	SNP	NULL	p.H21Y	ENST00000379007.2	37	c.61	CCDS34735.1	7	.	.	.	.	.	.	.	.	.	.	G	5.737	0.320378	0.10845	.	.	ENSG00000205174	ENST00000379007	.	.	.	2.81	0.801	0.18679	.	.	.	.	.	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.16289	0.015	T	0.25152	-1.0140	7	.	.	.	.	3.4795	0.07597	0.1685:0.2662:0.5654:0.0	.	21	A4D0T2	CG066_HUMAN	Y	21	.	.	H	-	1	0	C7orf66	108311765	0.002000	0.14202	0.143000	0.22291	0.225000	0.24961	0.154000	0.16343	0.189000	0.20188	0.455000	0.32223	CAT	C7orf66	-	NULL		0.383	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf66	HGNC	protein_coding	OTTHUMT00000337420.1	G	NM_001024607		108524529	-1	no_errors	ENST00000379007	ensembl	human	putative	70_37	missense	SNP	0.221	A	A	108524529	G	A	108524529	3	1	160	1	0	0	0	0	1	0	0	0	2417	1290	45	1	294	1	C7orf66	7	108524529	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1182185	108524529	50614134	971	29244										
DOCK4	9732	genome.wustl.edu	37	chr7	111629071	111629071	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgatgctcaatactcactCattgccccagtcaagccggg	9	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:111629071C>G	ENST00000437633.1	-	6	719	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	DOCK4_ENST00000428084.1_Splice_Site_p.E155Q|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	155					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E155Q(1)|p.E143Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATACTCACTCATTGCCCCAG	0.567																																																	2	Substitution - Missense(2)	lung(2)											53	55	54					7																	111629071		2052	4191	6243	SO:0001630	splice_region_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.464+1G>C	7.37:g.111629071C>G			O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.E155Q	ENST00000437633.1	37	c.463	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.465087|4.465087	0.84425|0.84425	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.02837|.	4.14;4.14|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.100558|.	0.64402|.	D|.	0.000002|.	T|T	0.69214|0.69214	0.3086|0.3086	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.41420|.	0.193;0.57;0.749;0.749|.	B;B;B;B|.	0.40741|.	0.091;0.269;0.339;0.258|.	T|T	0.64786|0.64786	-0.6325|-0.6325	10|5	0.41790|.	T|.	0.15|.	.|.	18.6737|18.6737	0.91521|0.91521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	155;155;155;155|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	Q|I	143;155;155;143;154|142	ENSP00000410746:E155Q;ENSP00000404179:E155Q|.	ENSP00000345432:E143Q|.	E|M	-|-	1|3	0|0	DOCK4|DOCK4	111416307|111416307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.768000|7.768000	0.85345|0.85345	2.637000|2.637000	0.89404|0.89404	0.561000|0.561000	0.74099|0.74099	GAA|ATG	DOCK4	-	NULL		0.567	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	C	NM_014705	Missense_Mutation	111629071	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111629071	C	G	111629071	5	3	160	1	0	0	0	0	0	0	1	0	4699	840	29	1	5625	1	DOCK4	7	111629071	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3104542	111629071	47509592	972	29245										
MDFIC	29969	genome.wustl.edu	37	chr7	114655985	114655985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtggaatttgttttccttCataaatatttatcttttgtt	5	5	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:114655985C>T	ENST00000393486.1	+	5	1327	c.737C>T	c.(736-738)tCa>tTa	p.S246L	MDFIC_ENST00000257724.3_Missense_Mutation_p.S355L	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TGTTTTCCTTCATAAATATTT	0.363																																																	0													194	178	183					7																	114655985		2203	4300	6503	SO:0001583	missense	29969			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.737C>T	7.37:g.114655985C>T	ENSP00000377126:p.Ser246Leu			Missense_Mutation	SNP	NULL	p.S246L	ENST00000393486.1	37	c.737	CCDS55155.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.480653	0.96307	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.63	5.63	0.86233	.	0.286515	0.34338	N	0.004046	T	0.59891	0.2227	N	0.14661	0.345	0.80722	D	1	D	0.59767	0.986	P	0.58660	0.843	T	0.66536	-0.5899	9	0.87932	D	0	-17.2059	19.6873	0.95984	0.0:1.0:0.0:0.0	.	246	Q9P1T7	MDFIC_HUMAN	L	355;246	.	ENSP00000257724:S355L	S	+	2	0	MDFIC	114443221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.650000	0.89964	0.557000	0.71058	TCA	MDFIC	-	NULL		0.363	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4	C	NM_199072		114655985	1	no_errors	ENST00000393486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114655985	C	T	114655985	3	4	160	1	0	0	0	0	1	0	0	0	9428	838	29	1	1124	1	MDFIC	7	114655985	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3026914	114655985	44482678	973	29246										
MET	4233	genome.wustl.edu	37	chr7	116339698	116339698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggagccaaagtcctttcatCtgtaaaggaccggttcatca	10	10	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:116339698C>G	ENST00000318493.6	+	2	747	c.560C>G	c.(559-561)tCt>tGt	p.S187C	MET_ENST00000436117.2_Missense_Mutation_p.S187C|MET_ENST00000397752.3_Missense_Mutation_p.S187C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTCCTTTCATCTGTAAAGGAC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													110	110	110					7																	116339698		1936	4116	6052	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.560C>G	7.37:g.116339698C>G	ENSP00000317272:p.Ser187Cys		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S187C	ENST00000318493.6	37	c.560	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268157	0.40095	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11169	2.8;2.8;2.8	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.392164	0.29328	N	0.012474	T	0.31949	0.0813	M	0.79475	2.455	0.80722	D	1	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52463	0.936;0.767;0.767;0.767;0.767;0.767;0.767;0.767;0.918;0.508;0.564;0.953;0.953	P;P;P;P;P;P;P;P;P;P;P;P;P	0.62014	0.65;0.778;0.897;0.852;0.852;0.852;0.852;0.778;0.877;0.669;0.778;0.8;0.8	T	0.00451	-1.1731	10	0.56958	D	0.05	-10.8024	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	187;187;187;187;187;187;187;187;187;187;187;187;187	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	C	187	ENSP00000380860:S187C;ENSP00000317272:S187C;ENSP00000410980:S187C	ENSP00000317272:S187C	S	+	2	0	MET	116126934	0.994000	0.37717	0.024000	0.17045	0.733000	0.41908	4.090000	0.57693	2.941000	0.99782	0.655000	0.94253	TCT	MET	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	C			116339698	1	no_errors	ENST00000318493	ensembl	human	known	70_37	missense	SNP	0.558	G	G	116339698	C	G	116339698	3	3	160	1	0	0	0	0	1	0	0	0	9508	913	32	1	562	1	MET	7	116339698	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1683713	116339698	42798965	974	29247										
KCND2	3751	genome.wustl.edu	37	chr7	120387853	120387853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaccacaccagaaggagacGataggccagaatcccctgag	10	12	0	4	rs151258092		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:120387853G>A	ENST00000331113.4	+	6	2799	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	612					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGAAGGAGACGATAGGCCAGA	0.428																																																	0								G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	82	72	75		1834	5.5	1	7	dbSNP_134	75	0,8600		0,0,4300	no	missense	KCND2	NM_012281.2	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	612/631	120387853	2,13004	2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1834G>A	7.37:g.120387853G>A	ENSP00000333496:p.Asp612Asn		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D612N	ENST00000331113.4	37	c.1834	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632010	0.46944	4.54E-4	0.0	ENSG00000184408	ENST00000331113	D	0.96774	-4.12	5.49	5.49	0.81192	.	0.063490	0.64402	D	0.000007	D	0.91932	0.7445	N	0.22421	0.69	0.35748	D	0.819202	B	0.31949	0.348	B	0.21917	0.037	D	0.91457	0.5186	9	.	.	.	.	19.7434	0.96241	0.0:0.0:1.0:0.0	.	612	Q9NZV8	KCND2_HUMAN	N	612	ENSP00000333496:D612N	.	D	+	1	0	KCND2	120175089	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	4.704000	0.61831	2.716000	0.92895	0.591000	0.81541	GAT	KCND2	-	NULL		0.428	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	G	NM_012281		120387853	1	no_errors	ENST00000331113	ensembl	human	known	70_37	missense	SNP	0.995	A	A	120387853	G	A	120387853	3	1	160	1	0	0	0	0	1	0	0	0	8039	1058	37	1	1856	1	KCND2	7	120387853	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4048155	120387853	38750810	975	29248										
SND1	27044	genome.wustl.edu	37	chr7	127343372	127343372	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acattctgggtaccatccttCatccagtgagtgtgtctgtg	10	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:127343372C>T	ENST00000354725.3	+	7	1029	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	279	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TACCATCCTTCATCCAGTGAG	0.468																																																	0													71	63	66					7																	127343372		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.835C>T	7.37:g.127343372C>T	ENSP00000346762:p.His279Tyr		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.H279Y	ENST00000354725.3	37	c.835	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027807	0.93518	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.28895	1.59	6.07	6.07	0.98685	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	L	0.50993	1.605	0.80722	D	1	P	0.49862	0.929	P	0.53912	0.737	T	0.02581	-1.1138	10	0.30854	T	0.27	-18.43	18.1532	0.89682	0.0:1.0:0.0:0.0	.	279	Q7KZF4	SND1_HUMAN	Y	279;269	ENSP00000346762:H279Y	ENSP00000346762:H279Y	H	+	1	0	SND1	127130608	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.554000	0.82212	2.885000	0.99019	0.655000	0.94253	CAT	SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.468	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127343372	1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127343372	C	T	127343372	3	4	160	1	0	0	0	0	1	0	0	0	14874	826	29	1	861	1	SND1	7	127343372	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6955519	127343372	31795291	976	29249										
FLNC	2318	genome.wustl.edu	37	chr7	128486083	128486083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactgagttcactgtggatgCaagatccctaacagccacag	9	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:128486083C>T	ENST00000325888.8	+	22	4091	c.3830C>T	c.(3829-3831)gCa>gTa	p.A1277V	FLNC_ENST00000346177.6_Missense_Mutation_p.A1277V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1277					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTGTGGATGCAAGATCCCTA	0.627																																																	0													41	45	44					7																	128486083		2082	4212	6294	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3830C>T	7.37:g.128486083C>T	ENSP00000327145:p.Ala1277Val		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A1277V	ENST00000325888.8	37	c.3830	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.604855	0.96626	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85484	-1.99;-1.99	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057199	0.64402	D	0.000001	D	0.91348	0.7271	M	0.89478	3.035	0.80722	D	1	P;P	0.42584	0.748;0.784	P;P	0.49561	0.615;0.595	D	0.92751	0.6216	10	0.62326	D	0.03	.	18.4511	0.90704	0.0:1.0:0.0:0.0	.	1277;1277	Q14315-2;Q14315	.;FLNC_HUMAN	V	1277	ENSP00000327145:A1277V;ENSP00000344002:A1277V	ENSP00000327145:A1277V	A	+	2	0	FLNC	128273319	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	5.730000	0.68546	2.360000	0.80028	0.555000	0.69702	GCA	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128486083	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128486083	C	T	128486083	3	4	160	1	0	0	0	0	1	0	0	0	5953	710	25	4	3916	4	FLNC	7	128486083	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1142711	128486083	30652580	977	29250										
TNPO3	23534	genome.wustl.edu	37	chr7	128641126	128641126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tactcacttgtctaaatcttCacgtgccacggccatatgat	6	12	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:128641126C>T	ENST00000265388.5	-	6	1002	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	TNPO3_ENST00000471234.1_Missense_Mutation_p.E287K|TNPO3_ENST00000482320.1_Missense_Mutation_p.E221K|TNPO3_ENST00000471166.1_Missense_Mutation_p.E287K|TNPO3_ENST00000393245.1_Missense_Mutation_p.E287K			Q9Y5L0	TNPO3_HUMAN	transportin 3	287					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTAAATCTTCACGTGCCACG	0.418																																					Pancreas(147;583 2585 39696 52331)												0													143	125	131					7																	128641126		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.859G>A	7.37:g.128641126C>T	ENSP00000265388:p.Glu287Lys		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.E287K	ENST00000265388.5	37	c.859	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.678011	0.96764	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.973;1.0;0.995	P;D;P	0.91635	0.845;0.999;0.863	T	0.16364	-1.0405	10	0.20046	T	0.44	.	17.8363	0.88699	0.0:1.0:0.0:0.0	.	287;287;287	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	K	287;287;221;287;287	ENSP00000376936:E287K;ENSP00000265388:E287K;ENSP00000420089:E221K;ENSP00000418646:E287K;ENSP00000418267:E287K	ENSP00000265388:E287K	E	-	1	0	TNPO3	128428362	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.890000	0.99128	0.650000	0.86243	GAA	TNPO3	-	superfamily_ARM-type_fold		0.418	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	C	NM_012470		128641126	-1	no_errors	ENST00000393245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128641126	C	T	128641126	3	4	160	1	0	0	0	0	1	0	0	0	16367	835	29	1	1980	1	TNPO3	7	128641126	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	155043	128641126	30497537	978	29251										
TSPAN33	340348	genome.wustl.edu	37	chr7	128807381	128807381	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttacttggtggtgtggctCtaggcctggccatcccccag	12	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:128807381C>G	ENST00000289407.4	+	7	839	c.730C>G	c.(730-732)Cta>Gta	p.L244V	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	244					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGGTGTGGCTCTAGGCCTGGC	0.493																																																	0													167	159	161					7																	128807381		2203	4300	6503	SO:0001583	missense	340348				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.730C>G	7.37:g.128807381C>G	ENSP00000289407:p.Leu244Val			Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L244V	ENST00000289407.4	37	c.730	CCDS5810.1	7	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487105	0.26686	.	.	ENSG00000158457	ENST00000289407	T	0.80994	-1.44	5.72	3.91	0.45181	.	0.067445	0.64402	D	0.000013	T	0.64897	0.2640	N	0.17838	0.53	0.46317	D	0.998986	B	0.16396	0.017	B	0.22753	0.041	T	0.53549	-0.8423	10	0.20046	T	0.44	-15.5344	8.2384	0.31640	0.0:0.7542:0.0:0.2458	.	244	Q86UF1	TSN33_HUMAN	V	244	ENSP00000289407:L244V	ENSP00000289407:L244V	L	+	1	2	TSPAN33	128594617	0.749000	0.28305	0.998000	0.56505	0.991000	0.79684	1.461000	0.35255	0.756000	0.33013	0.655000	0.94253	CTA	TSPAN33	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.493	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN33	HGNC	protein_coding	OTTHUMT00000350983.1	C	NM_178562		128807381	1	no_errors	ENST00000289407	ensembl	human	known	70_37	missense	SNP	0.994	G	G	128807381	C	G	128807381	3	3	160	1	0	0	0	0	1	0	0	0	16679	912	32	1	756	1	TSPAN33	7	128807381	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	166255	128807381	30331282	979	29252										
ZC3HC1	51530	genome.wustl.edu	37	chr7	129688889	129688889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atatagaaaatgtttccactCtgctaaagaaggcttctttg	7	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:129688889C>G	ENST00000358303.4	-	2	326	c.242G>C	c.(241-243)aGa>aCa	p.R81T	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R60T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R81T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R81T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	81					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TGTTTCCACTCTGCTAAAGAA	0.418																																					Melanoma(115;540 1606 16325 28853 48167)												0													179	164	169					7																	129688889		2203	4300	6503	SO:0001583	missense	51530			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.242G>C	7.37:g.129688889C>G	ENSP00000351052:p.Arg81Thr		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.R81T	ENST00000358303.4	37	c.242	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138618	0.77775	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.79033	-0.57;-1.23;-0.63;-1.07	5.72	4.84	0.62591	Zinc finger, C3HC-like (1);	0.000000	0.85682	D	0.000000	D	0.88247	0.6385	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.89824	0.3991	10	0.87932	D	0	-17.4601	13.6242	0.62155	0.0:0.9247:0.0:0.0753	.	81	Q86WB0	NIPA_HUMAN	T	81;81;60;81;81	ENSP00000351052:R81T;ENSP00000353933:R81T;ENSP00000309301:R60T;ENSP00000418533:R81T	ENSP00000309301:R60T	R	-	2	0	ZC3HC1	129476125	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.225000	0.72271	1.437000	0.47472	0.586000	0.80456	AGA	ZC3HC1	-	pfam_Znf_C3HC-like		0.418	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	C	NM_016478		129688889	-1	no_errors	ENST00000358303	ensembl	human	known	70_37	missense	SNP	1.000	G	G	129688889	C	G	129688889	3	3	160	1	0	0	0	0	1	0	0	0	17607	913	32	1	1302	1	ZC3HC1	7	129688889	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	881508	129688889	29449774	980	29253										
CPA5	93979	genome.wustl.edu	37	chr7	129987668	129987668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttcacttctcggggatctgGagggcctgaaaccccagaag	12	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:129987668G>C	ENST00000485477.1	+	3	1307	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	CPA5_ENST00000431780.2_Missense_Mutation_p.E60Q|CPA5_ENST00000393213.3_Missense_Mutation_p.E60Q|CPA5_ENST00000474905.1_Missense_Mutation_p.E60Q|CPA5_ENST00000355388.3_Missense_Mutation_p.E60Q|CPA5_ENST00000466363.2_Missense_Mutation_p.E60Q|CPA5_ENST00000461828.1_Missense_Mutation_p.E60Q			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	60						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CGGGGATCTGGAGGGCCTGAA	0.582																																																	0													62	60	61					7																	129987668		2203	4300	6503	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.178G>C	7.37:g.129987668G>C	ENSP00000420237:p.Glu60Gln		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E60Q	ENST00000485477.1	37	c.178	CCDS5819.1	7	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835470	0.50951	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.63	4.74	0.60224	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.220883	0.32055	N	0.006643	T	0.16599	0.0399	L	0.59436	1.845	0.34260	D	0.679751	B;B	0.32409	0.32;0.37	B;B	0.29176	0.06;0.099	T	0.13388	-1.0511	9	.	.	.	.	10.8558	0.46798	0.0882:0.0:0.9118:0.0	.	60;60	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	Q	60	ENSP00000347549:E60Q;ENSP00000420060:E60Q;ENSP00000418183:E60Q;ENSP00000419025:E60Q;ENSP00000420237:E60Q;ENSP00000393045:E60Q;ENSP00000417314:E60Q;ENSP00000376907:E60Q	.	E	+	1	0	CPA5	129774904	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.154000	0.58125	2.652000	0.90054	0.655000	0.94253	GAG	CPA5	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.582	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	G	NM_001127441		129987668	1	no_errors	ENST00000355388	ensembl	human	known	70_37	missense	SNP	0.997	C	C	129987668	G	C	129987668	3	2	160	1	0	0	0	0	1	0	0	0	3798	1175	41	1	184	1	CPA5	7	129987668	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	298779	129987668	29150995	981	29254										
EXOC4	60412	genome.wustl.edu	37	chr7	132959806	132959806	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgccttgaagaagcctacgaGaaatgtgaccgtgacctgga	12	10	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:132959806G>A	ENST00000253861.4	+	2	185	c.156G>A	c.(154-156)gaG>gaA	p.E52E	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Silent_p.E52E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	52					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGCCTACGAGAAATGTGACC	0.468																																																	0													137	123	128					7																	132959806		2203	4300	6503	SO:0001819	synonymous_variant	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.156G>A	7.37:g.132959806G>A			E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	pfam_Sec8_exocyst	p.E52	ENST00000253861.4	37	c.156	CCDS5829.1	7																																																																																			EXOC4	-	pfam_Sec8_exocyst		0.468	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	G	NM_021807		132959806	1	no_errors	ENST00000253861	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132959806	G	A	132959806	2	1	160	1	0	0	0	0	0	0	0	1	5318	933	33	1		1	EXOC4	7	132959806	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2972138	132959806	26178857	982	29255										
KIAA1549	57670	genome.wustl.edu	37	chr7	138529164	138529164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcggaggcctgtggctgctGagggtcagggggcaccagct	20	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:138529164G>C	ENST00000422774.1	-	18	5398	c.5350C>G	c.(5350-5352)Cag>Gag	p.Q1784E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q1734E|KIAA1549_ENST00000440172.1_Missense_Mutation_p.Q1784E			Q9HCM3	K1549_HUMAN	KIAA1549	1784						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTGGCTGCTGAGGGTCAGGG	0.642			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													17	21	19					7																	138529164		1968	4143	6111	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5350C>G	7.37:g.138529164G>C	ENSP00000416040:p.Gln1784Glu		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.Q1784E	ENST00000422774.1	37	c.5350	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896692	0.02472	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22743	1.94;1.94;1.95	5.56	3.7	0.42460	.	0.714861	0.14602	N	0.309560	T	0.15478	0.0373	L	0.43152	1.355	0.09310	N	1	P;B;P;B	0.41848	0.651;0.034;0.763;0.034	B;B;B;B	0.35770	0.104;0.036;0.21;0.036	T	0.11251	-1.0595	10	0.02654	T	1	.	14.7276	0.69357	0.0:0.276:0.724:0.0	.	1784;568;1784;568	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	E	1784;1734;1784	ENSP00000406661:Q1784E;ENSP00000242365:Q1734E;ENSP00000416040:Q1784E	ENSP00000242365:Q1734E	Q	-	1	0	KIAA1549	138179704	0.777000	0.28628	0.005000	0.12908	0.087000	0.18053	2.505000	0.45424	0.678000	0.31325	0.650000	0.86243	CAG	KIAA1549	-	NULL		0.642	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	G			138529164	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	0.094	C	C	138529164	G	C	138529164	3	2	160	1	0	0	0	0	1	0	0	0	8264	1299	45	1	514	1	KIAA1549	7	138529164	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5569358	138529164	20609499	983	29256										
RAB19	401409	genome.wustl.edu	37	chr7	140125875	140125875	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctatatggggagagtgccctGaacggcctccccctggactc	12	14	0	2	rs544128497	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:140125875G>C	ENST00000356407.3	+	3	647	c.579G>C	c.(577-579)ctG>ctC	p.L193L	RAB19_ENST00000537763.1_Silent_p.L193L|RAB19_ENST00000275874.5_Silent_p.L240L			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	193					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AGAGTGCCCTGAACGGCCTCC	0.557																																																	0													79	73	75					7																	140125875		2203	4300	6503	SO:0001819	synonymous_variant	401409				CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.579G>C	7.37:g.140125875G>C			A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L240	ENST00000356407.3	37	c.720	CCDS34762.2	7																																																																																			RAB19	-	smart_Ran_GTPase		0.557	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB19	HGNC	protein_coding	OTTHUMT00000348740.1	G			140125875	1	no_errors	ENST00000275874	ensembl	human	known	70_37	silent	SNP	0.000	C	C	140125875	G	C	140125875	2	2	160	1	0	0	0	0	0	0	0	1	12934	1277	45	1		1	RAB19	7	140125875	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1596711	140125875	19012788	984	29257										
TAS2R4	50832	genome.wustl.edu	37	chr7	141478326	141478326	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctctgctattattgcctCagttattttaaattttgtag	5	6	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:141478326C>G	ENST00000247881.2	+	1	85	c.38C>G	c.(37-39)tCa>tGa	p.S13*	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	13					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ATTATTGCCTCAGTTATTTTA	0.358																																																	0													84	83	84					7																	141478326		2203	4300	6503	SO:0001587	stop_gained	50832			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.38C>G	7.37:g.141478326C>G	ENSP00000247881:p.Ser13*		Q645W5|Q75MV8	Nonsense_Mutation	SNP	pfam_TAS2_rcpt	p.S13*	ENST00000247881.2	37	c.38	CCDS5868.1	7	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931198	0.34096	.	.	ENSG00000127364	ENST00000247881	.	.	.	5.12	3.17	0.36434	.	0.717883	0.12457	N	0.467231	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	8.6251	0.33883	0.0:0.7986:0.0:0.2014	.	.	.	.	X	13	.	ENSP00000247881:S13X	S	+	2	0	TAS2R4	141124795	0.001000	0.12720	0.010000	0.14722	0.170000	0.22686	1.082000	0.30803	1.401000	0.46761	0.655000	0.94253	TCA	TAS2R4	-	pfam_TAS2_rcpt		0.358	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R4	HGNC	protein_coding	OTTHUMT00000349285.1	C			141478326	1	no_errors	ENST00000247881	ensembl	human	known	70_37	nonsense	SNP	0.002	G	G	141478326	C	G	141478326	4	3	160	1	0	0	0	0	0	1	0	0	15607	838	29	1	40	1	TAS2R4	7	141478326	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1352451	141478326	17660337	985	29258										
TRPV6	55503	genome.wustl.edu	37	chr7	142573425	142573425	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accggcgtctggtccaggatCtggcgagcctgcaacagaaa	13	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:142573425C>T	ENST00000359396.3	-	8	1163	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	306					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTCCAGGATCTGGCGAGCCT	0.597																																																	0													63	67	66					7																	142573425		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.918G>A	7.37:g.142573425C>T			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.Q306	ENST00000359396.3	37	c.918	CCDS5874.1	7																																																																																			TRPV6	-	prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	C	NM_014274		142573425	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.994	T	T	142573425	C	T	142573425	2	4	160	1	0	0	0	0	0	0	0	1	16631	912	32	1		1	TRPV6	7	142573425	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1095099	142573425	16565238	986	29259										
OR6B1	135946	genome.wustl.edu	37	chr7	143701854	143701854	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctattcagccattattttCatgtatgctcgacctcgagt	6	10	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:143701854C>T	ENST00000408922.2	+	1	833	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCATTATTTTCATGTATGCTC	0.423																																																	0													161	151	154					7																	143701854		1984	4177	6161	SO:0001819	synonymous_variant	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.765C>T	7.37:g.143701854C>T			A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F255	ENST00000408922.2	37	c.765	CCDS43667.1	7																																																																																			OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	C			143701854	1	no_errors	ENST00000408922	ensembl	human	known	70_37	silent	SNP	0.999	T	T	143701854	C	T	143701854	2	4	160	1	0	0	0	0	0	0	0	1	11211	825	29	1		1	OR6B1	7	143701854	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1128429	143701854	15436809	987	29260										
OR2A2	442361	genome.wustl.edu	37	chr7	143807474	143807474	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccagactctaatcaacgaGaggagcaggagaaaatgctg	11	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:143807474G>C	ENST00000408979.2	+	1	868	c.799G>C	c.(799-801)Gag>Cag	p.E267Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TAATCAACGAGAGGAGCAGGA	0.507																																																	0													175	169	171					7																	143807474		2008	4197	6205	SO:0001583	missense	442361				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.799G>C	7.37:g.143807474G>C	ENSP00000386209:p.Glu267Gln		B2RN85|Q8NGT6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E267Q	ENST00000408979.2	37	c.799	CCDS43671.1	7	.	.	.	.	.	.	.	.	.	.	G	1.891	-0.455352	0.04540	.	.	ENSG00000221989	ENST00000408979	T	0.00099	8.73	3.47	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34046	U	0.004312	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.27166	0.17	B	0.36186	0.219	T	0.15263	-1.0443	10	0.06494	T	0.89	-14.5634	11.1326	0.48356	0.0:0.5698:0.4302:0.0	.	267	Q6IF42	OR2A2_HUMAN	Q	267	ENSP00000386209:E267Q	ENSP00000386209:E267Q	E	+	1	0	OR2A2	143438407	0.000000	0.05858	0.008000	0.14137	0.074000	0.17049	-0.048000	0.11944	0.231000	0.21079	0.511000	0.50034	GAG	OR2A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A2	HGNC	protein_coding	OTTHUMT00000349978.1	G			143807474	1	no_errors	ENST00000408979	ensembl	human	known	70_37	missense	SNP	0.000	C	C	143807474	G	C	143807474	3	2	160	1	0	0	0	0	1	0	0	0	11001	943	33	1	801	1	OR2A2	7	143807474	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	105620	143807474	15331189	988	29261										
CUL1	8454	genome.wustl.edu	37	chr7	148484149	148484149	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatgcgaagatgctcgccaaGaggctcgtccaccagaacag	11	12	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:148484149G>A	ENST00000325222.4	+	13	1695	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	CUL1_ENST00000602748.1_Silent_p.K472K|CUL1_ENST00000409469.1_Silent_p.K472K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCTCGCCAAGAGGCTCGTCC	0.463																																																	0													100	94	96					7																	148484149		2203	4300	6503	SO:0001819	synonymous_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1416G>A	7.37:g.148484149G>A			D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K472	ENST00000325222.4	37	c.1416	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.463	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148484149	1	no_errors	ENST00000325222	ensembl	human	known	70_37	silent	SNP	0.998	A	A	148484149	G	A	148484149	2	1	160	1	0	0	0	0	0	0	0	1	4059	933	33	1		1	CUL1	7	148484149	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4676675	148484149	10654514	989	29262										
KRBA1	84626	genome.wustl.edu	37	chr7	149419615	149419615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcaggaggaagagccacaGaggacaggagagagggacct	17	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:149419615G>C	ENST00000485033.2	+	5	569	c.569G>C	c.(568-570)aGa>aCa	p.R190T	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.R190T|KRBA1_ENST00000255992.10_Missense_Mutation_p.R190T			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	190										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGAGCCACAGAGGACAGGAG	0.627																																																	0													23	28	27					7																	149419615		1872	4094	5966	SO:0001583	missense	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.569G>C	7.37:g.149419615G>C	ENSP00000420112:p.Arg190Thr		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.R190T	ENST00000485033.2	37	c.569		7	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805862	0.16467	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.32753	1.45;1.44;1.44	3.88	0.478	0.16789	.	1.344870	0.05206	N	0.505920	T	0.17066	0.0410	N	0.24115	0.695	0.09310	N	1	B	0.32620	0.378	B	0.26969	0.075	T	0.16689	-1.0394	10	0.30078	T	0.28	0.1592	2.6741	0.05076	0.3036:0.0:0.4705:0.226	.	190	A5PL33	KRBA1_HUMAN	T	190	ENSP00000255992:R190T;ENSP00000317165:R190T;ENSP00000420112:R190T	ENSP00000255992:R190T	R	+	2	0	KRBA1	149050548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.308000	0.19314	-0.117000	0.11872	-0.150000	0.13652	AGA	KRBA1	-	NULL		0.627	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	G	NM_032534		149419615	1	no_errors	ENST00000255992	ensembl	human	known	70_37	missense	SNP	0.000	C	C	149419615	G	C	149419615	3	2	160	1	0	0	0	0	1	0	0	0	8459	942	33	1	587	1	KRBA1	7	149419615	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	935466	149419615	9719048	990	29263										
GIMAP6	474344	genome.wustl.edu	37	chr7	150325418	150325418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgtcaatcacctcaagctCcttcccagcccactctcggc	6	18	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150325418C>G	ENST00000328902.5	-	3	484	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	90	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTCAAGCTCCTTCCCAGCC	0.602																																																	0													112	113	113					7																	150325418		2203	4300	6503	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.268G>C	7.37:g.150325418C>G	ENSP00000330374:p.Glu90Gln		C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	pfam_AIG1	p.E90Q	ENST00000328902.5	37	c.268	CCDS34778.1	7	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145601	0.21288	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.05925	3.37	4.29	0.0065	0.14067	AIG1 (1);	0.558247	0.19143	N	0.121647	T	0.03783	0.0107	L	0.35249	1.045	0.09310	N	1	B	0.14438	0.01	B	0.18871	0.023	T	0.42068	-0.9473	10	0.17832	T	0.49	.	2.6863	0.05108	0.18:0.3647:0.3507:0.1046	.	90	Q6P9H5	GIMA6_HUMAN	Q	90;151	ENSP00000330374:E90Q	ENSP00000330374:E90Q	E	-	1	0	GIMAP6	149956351	0.000000	0.05858	0.081000	0.20488	0.005000	0.04900	-0.352000	0.07701	0.418000	0.25898	-0.264000	0.10439	GAG	GIMAP6	-	pfam_AIG1		0.602	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	HGNC	protein_coding	OTTHUMT00000353457.1	C	NM_024711		150325418	-1	no_errors	ENST00000328902	ensembl	human	known	70_37	missense	SNP	0.000	G	G	150325418	C	G	150325418	3	3	160	1	0	0	0	0	1	0	0	0	6402	864	30	1	614	1	GIMAP6	7	150325418	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	905803	150325418	8813245	991	29264										
TMEM176B	28959	genome.wustl.edu	37	chr7	150491133	150491133	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacactccaagaacacaactCacaacccccagcaatatctg	3	17	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150491133C>G	ENST00000447204.2	-	3	603	c.231G>C	c.(229-231)gtG>gtC	p.V77V	TMEM176B_ENST00000492607.1_Silent_p.V77V|TMEM176B_ENST00000326442.5_Silent_p.V77V|TMEM176B_ENST00000429904.2_Silent_p.V77V|TMEM176B_ENST00000434545.1_Silent_p.V77V|TMEM176B_ENST00000450753.2_Intron	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	77					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACACAACTCACAACCCCCA	0.597																																																	0													256	217	230					7																	150491133		2203	4300	6503	SO:0001819	synonymous_variant	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.231G>C	7.37:g.150491133C>G			B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.V77	ENST00000447204.2	37	c.231	CCDS5908.1	7																																																																																			TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt		0.597	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	C	NM_014020		150491133	-1	no_errors	ENST00000326442	ensembl	human	known	70_37	silent	SNP	0.799	G	G	150491133	C	G	150491133	2	3	160	1	0	0	0	0	0	0	0	1	16123	813	29	1		1	TMEM176B	7	150491133	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	165715	150491133	8647530	992	29265										
KCNH2	3757	genome.wustl.edu	37	chr7	150647061	150647061	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgtgggaaccccagagttCagcagcctcaccccacgtgg	11	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150647061C>T	ENST00000262186.5	-	9	2800				KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000430723.3_Missense_Mutation_p.E865K|KCNH2_ENST00000330883.4_Intron	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCCCAGAGTTCAGCAGCCTCA	0.552																																					GBM(137;110 1844 13671 20123 45161)												0													34	48	43					7																	150647061		1163	2185	3348	SO:0001627	intron_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2398+194G>A	7.37:g.150647061C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.E865K	ENST00000262186.5	37	c.2593	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068646	0.55539	.	.	ENSG00000055118	ENST00000430723	D	0.99207	-5.56	3.14	1.28	0.21552	.	.	.	.	.	D	0.95376	0.8499	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.002	B;B	0.14023	0.01;0.003	D	0.92329	0.5872	9	0.33141	T	0.24	.	5.6883	0.17815	0.0:0.7392:0.0:0.2608	.	865;525	G5E9I0;Q708S9	.;.	K	865	ENSP00000387657:E865K	ENSP00000387657:E865K	E	-	1	0	KCNH2	150277994	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	-0.276000	0.08514	0.344000	0.23847	0.462000	0.41574	GAA	KCNH2	-	NULL		0.552	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150647061	-1	no_errors	ENST00000430723	ensembl	human	known	70_37	missense	SNP	0.001	T	T	150647061	C	T	150647061	1	4	160	0	1	0	0	0	0	0	0	0	8052	835	29	1		1	KCNH2	7	150647061	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	155928	150647061	8491602	993	29266										
KCNH2	3757	genome.wustl.edu	37	chr7	150648870	150648870	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgagtagcgatccagcttCcgcgccacgcgcaccagccg	11	17	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150648870C>G	ENST00000262186.5	-	7	2012	c.1611G>C	c.(1609-1611)cgG>cgC	p.R537R	KCNH2_ENST00000392968.2_Silent_p.R441R|KCNH2_ENST00000430723.3_Silent_p.R537R|KCNH2_ENST00000330883.4_Silent_p.R197R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	537					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GATCCAGCTTCCGCGCCACGC	0.657																																					GBM(137;110 1844 13671 20123 45161)												0													36	34	35					7																	150648870		2203	4300	6503	SO:0001819	synonymous_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1611G>C	7.37:g.150648870C>G			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R537	ENST00000262186.5	37	c.1611	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom		0.657	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150648870	-1	no_errors	ENST00000262186	ensembl	human	known	70_37	silent	SNP	0.996	G	G	150648870	C	G	150648870	2	3	160	1	0	0	0	0	0	0	0	1	8052	842	30	1		1	KCNH2	7	150648870	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1809	150648870	8489793	994	29267										
NOS3	4846	genome.wustl.edu	37	chr7	150706116	150706116	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcgccagaggtaccggctGagcgcccaggccgagggcct	16	14	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150706116G>A	ENST00000297494.3	+	18	2568	c.2211G>A	c.(2209-2211)ctG>ctA	p.L737L	NOS3_ENST00000461406.1_Silent_p.L531L	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTACCGGCTGAGCGCCCAGG	0.677											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18	22	21					7																	150706116		2202	4295	6497	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2211G>A	7.37:g.150706116G>A		1734	Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L737	ENST00000297494.3	37	c.2211	CCDS5912.1	7																																																																																			NOS3	-	superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150706116	1	no_errors	ENST00000297494	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150706116	G	A	150706116	2	1	160	1	0	0	0	0	0	0	0	1	10568	1277	45	1		1	NOS3	7	150706116	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	57246	150706116	8432547	995	29268										
NOS3	4846	genome.wustl.edu	37	chr7	150706129	150706129	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accggctgagcgcccaggccGagggcctgcagttgctgcca	15	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:150706129G>T	ENST00000297494.3	+	18	2581	c.2224G>T	c.(2224-2226)Gag>Tag	p.E742*	NOS3_ENST00000461406.1_Nonsense_Mutation_p.E536*	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E742Q(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCCAGGCCGAGGGCCTGCA	0.682											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	breast(1)											18	22	21					7																	150706129		2203	4297	6500	SO:0001587	stop_gained	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2224G>T	7.37:g.150706129G>T	ENSP00000297494:p.Glu742*	1734	Q495E5	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E742*	ENST00000297494.3	37	c.2224	CCDS5912.1	7	.	.	.	.	.	.	.	.	.	.	G	43	9.937053	0.99299	.	.	ENSG00000164867	ENST00000297494;ENST00000484576;ENST00000461406	.	.	.	5.03	3.1	0.35709	.	0.519812	0.17489	N	0.172416	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-20.6715	5.9374	0.19173	0.1099:0.374:0.5161:0.0	.	.	.	.	X	742;61;536	.	ENSP00000297494:E742X	E	+	1	0	NOS3	150337062	0.779000	0.28652	0.938000	0.37757	0.988000	0.76386	1.007000	0.29860	0.602000	0.29896	0.555000	0.69702	GAG	NOS3	-	superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150706129	1	no_errors	ENST00000297494	ensembl	human	known	70_37	nonsense	SNP	0.887	T	T	150706129	G	T	150706129	4	4	160	1	0	0	0	0	0	1	0	0	10568	1059	37	3	2572	3	NOS3	7	150706129	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	13	150706129	8432534	996	29269										
MLL3	58508	genome.wustl.edu	37	chr7	151860765	151860765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgggaaaggtgggttggctCatggtgggtggagtggcacc	20	5	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:151860765C>T	ENST00000262189.6	-	43	10115	c.9897G>A	c.(9895-9897)atG>atA	p.M3299I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M3299I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3299	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGTTGGCTCATGGTGGGTG	0.557																																																	0													153	126	135					7																	151860765		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9897G>A	7.37:g.151860765C>T	ENSP00000262189:p.Met3299Ile		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.M3299I	ENST00000262189.6	37	c.9897	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.587|9.587	1.125240|1.125240	0.20959|0.20959	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83591	.|-1.74;-1.74	5.13|5.13	1.77|1.77	0.24775|0.24775	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.76263|0.76263	0.3963|0.3963	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16396	.|0.0;0.017;0.001	.|B;B;B	.|0.15052	.|0.002;0.012;0.001	T|T	0.68648|0.68648	-0.5353|-0.5353	5|10	.|0.40728	.|T	.|0.16	.|.	7.7018|7.7018	0.28627|0.28627	0.0:0.5908:0.2515:0.1577|0.0:0.5908:0.2515:0.1577	.|.	.|3299;2360;3299	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	K|I	805|3299	.|ENSP00000262189:M3299I;ENSP00000347325:M3299I	.|ENSP00000262189:M3299I	E|M	-|-	1|3	0|0	MLL3|MLL3	151491698|151491698	0.983000|0.983000	0.35010|0.35010	0.993000|0.993000	0.49108|0.49108	0.962000|0.962000	0.63368|0.63368	1.351000|1.351000	0.34022|0.34022	0.528000|0.528000	0.28580|0.28580	0.655000|0.655000	0.94253|0.94253	GAG|ATG	MLL3	-	NULL		0.557	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151860765	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151860765	C	T	151860765	3	4	160	1	0	0	0	0	1	0	0	0	9645	826	29	1	4906	1	MLL3	7	151860765	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1154636	151860765	7277898	997	29270										
ACTR3B	57180	genome.wustl.edu	37	chr7	152520588	152520588	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcctgggacctgaaatattCtttcacccggaggtgagatg	11	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:152520588C>T	ENST00000256001.8	+	8	980	c.846C>T	c.(844-846)ttC>ttT	p.F282F	ACTR3B_ENST00000397282.2_Silent_p.F194F|ACTR3B_ENST00000377776.3_Silent_p.F282F|ACTR3B_ENST00000537264.1_Silent_p.F194F	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	282						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTGAAATATTCTTTCACCCGG	0.478																																																	0													196	188	191					7																	152520588		2203	4300	6503	SO:0001819	synonymous_variant	57180				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.846C>T	7.37:g.152520588C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.F282	ENST00000256001.8	37	c.846	CCDS5934.1	7																																																																																			ACTR3B	-	pfam_Actin-like,smart_Actin-like		0.478	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	C	NM_020445		152520588	1	no_errors	ENST00000256001	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152520588	C	T	152520588	2	4	160	1	0	0	0	0	0	0	0	1	213	912	32	1		1	ACTR3B	7	152520588	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	659823	152520588	6618075	998	29271										
SHH	6469	genome.wustl.edu	37	chr7	155604778	155604778	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagcataccagcagcgaggaGacgaggactagcagcagaca	14	10	0	2	rs587778789		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr7:155604778G>C	ENST00000297261.2	-	1	189	c.39C>G	c.(37-39)gtC>gtG	p.V13V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	13					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCGAGGAGACGAGGACTA	0.642																																																	0													75	84	81					7																	155604778		2203	4300	6503	SO:0001819	synonymous_variant	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.39C>G	7.37:g.155604778G>C			A4D247|Q75MC9	Silent	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog	p.V13	ENST00000297261.2	37	c.39	CCDS5942.1	7																																																																																			SHH	-	pirsf_Hedgehog		0.642	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHH	HGNC	protein_coding	OTTHUMT00000322327.1	G	NM_000193		155604778	-1	no_errors	ENST00000297261	ensembl	human	known	70_37	silent	SNP	1.000	C	C	155604778	G	C	155604778	2	2	160	1	0	0	0	0	0	0	0	1	14309	929	33	1		1	SHH	7	155604778	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3084190	155604778	3533885	999	29272										
USP17L2	377630	genome.wustl.edu	37	chr8	11995849	11995849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtgagggctggatgacatGaccaggactgtggagggccc	17	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:11995849G>A	ENST00000333796.3	-	1	737	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	141	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGGATGACATGACCAGGACTG	0.527																																																	0													26	30	29					8																	11995849		1472	3050	4522	SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.421C>T	8.37:g.11995849G>A	ENSP00000333329:p.His141Tyr			Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.H141Y	ENST00000333796.3	37	c.421	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	G	5.466	0.271104	0.10349	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.157830	0.03977	U	0.292679	T	0.04770	0.0129	N	0.21282	0.65	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.42565	-0.9444	10	0.72032	D	0.01	.	2.2173	0.03963	0.3039:0.3379:0.3581:0.0	.	141	Q6R6M4	U17L2_HUMAN	Y	141	ENSP00000333329:H141Y	ENSP00000333329:H141Y	H	-	1	0	USP17L2	12033258	0.549000	0.26481	0.000000	0.03702	0.003000	0.03518	-0.037000	0.12164	-0.930000	0.03752	-0.385000	0.06624	CAT	USP17L2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.527	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	G	NM_201402		11995849	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	missense	SNP	0.632	A	A	11995849	G	A	11995849	3	1	160	1	0	0	0	0	1	0	0	0	17079	1290	45	1	1175	1	USP17L2	8	11995849	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		11995849	134368173	1000	29273										
USP17L2	377630	genome.wustl.edu	37	chr8	11996239	11996239	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagtggttgaactgccactCacctcccaagtagagtgagt	10	10	1	3	rs550178667		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:11996239C>G	ENST00000333796.3	-	1	347	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	11					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AACTGCCACTCACCTCCCAAG	0.517													-|||	1	0.000199681	0	0	5008	,	,		18673	0		0.001	False		,,,				2504	0																0																																										SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.31G>C	8.37:g.11996239C>G	ENSP00000333329:p.Glu11Gln			Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.E11Q	ENST00000333796.3	37	c.31	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	-	6.405	0.442788	0.12164	.	.	ENSG00000223443	ENST00000333796	T	0.13307	2.6	0.36	0.36	0.16097	.	0.871985	0.09013	U	0.861316	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	0.999993	B	0.17038	0.02	B	0.12837	0.008	T	0.36841	-0.9731	9	0.38643	T	0.18	.	.	.	.	.	11	Q6R6M4	U17L2_HUMAN	Q	11	ENSP00000333329:E11Q	ENSP00000333329:E11Q	E	-	1	0	USP17L2	12033648	0.246000	0.23909	0.051000	0.19133	0.050000	0.14768	0.375000	0.20518	0.469000	0.27268	0.472000	0.43445	GAG	USP17L2	-	NULL		0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	C	NM_201402		11996239	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	missense	SNP	0.573	G	G	11996239	C	G	11996239	3	3	160	1	0	0	0	0	1	0	0	0	17079	835	29	1	1565	1	USP17L2	8	11996239	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	390	11996239	134367783	1001	29274										
FGL1	2267	genome.wustl.edu	37	chr8	17726235	17726235	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atattccccaatattcaactCgtagaaattctaaagaaaaa	3	8	2	2	rs575067637		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:17726235C>G	ENST00000398056.2	-	9	1416	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	FGL1_ENST00000381841.2_Missense_Mutation_p.E201Q|FGL1_ENST00000427924.1_Missense_Mutation_p.E201Q|FGL1_ENST00000518650.1_Missense_Mutation_p.E201Q|FGL1_ENST00000522444.1_Missense_Mutation_p.E201Q|FGL1_ENST00000381840.2_Missense_Mutation_p.E201Q|FGL1_ENST00000398054.1_Missense_Mutation_p.E201Q			Q08830	FGL1_HUMAN	fibrinogen-like 1	201	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ATATTCAACTCGTAGAAATTC	0.383																																																	0													37	41	39					8																	17726235		2203	4299	6502	SO:0001583	missense	2267			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.601G>C	8.37:g.17726235C>G	ENSP00000381133:p.Glu201Gln		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E201Q	ENST00000398056.2	37	c.601	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.126552	0.01770	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	4.37	3.49	0.39957	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.447646	0.25397	N	0.030976	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.007	B;B;B	0.19391	0.012;0.008;0.025	T	0.31166	-0.9953	10	0.16420	T	0.52	.	9.5695	0.39420	0.0:0.5225:0.3992:0.0783	.	171;201;201	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	Q	201;201;171;201;201;201;201;201;201	ENSP00000381133:E201Q;ENSP00000429757:E201Q;ENSP00000371263:E201Q;ENSP00000401952:E201Q;ENSP00000381131:E201Q;ENSP00000371262:E201Q;ENSP00000428430:E201Q	ENSP00000221204:E201Q	E	-	1	0	FGL1	17770515	0.958000	0.32768	0.065000	0.19835	0.017000	0.09413	1.050000	0.30404	1.159000	0.42565	-0.378000	0.06908	GAG	FGL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	C	NM_004467		17726235	-1	no_errors	ENST00000221204	ensembl	human	known	70_37	missense	SNP	0.113	G	G	17726235	C	G	17726235	3	3	160	1	0	0	0	0	1	0	0	0	5890	893	31	1	345	1	FGL1	8	17726235	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5729996	17726235	128637787	1002	29275										
PPP2R2A	5520	genome.wustl.edu	37	chr8	26227787	26227787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgcaaagtctgtgcaagtgGcaagcgaaagaaagatgaaa	12	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:26227787G>A	ENST00000380737.3	+	10	1531	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.G411D	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	401					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGTGCAAGTGGCAAGCGAAAG	0.448																																																	0													79	77	78					8																	26227787		2203	4300	6503	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1202G>A	8.37:g.26227787G>A	ENSP00000370113:p.Gly401Asp		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.G401D	ENST00000380737.3	37	c.1202	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645740	0.47258	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.48201	1.41;0.82;1.4	5.25	5.25	0.73442	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.70833	0.3269	M	0.77103	2.36	0.80722	D	1	B;B;D	0.76494	0.002;0.002;0.999	B;B;D	0.74674	0.003;0.007;0.984	T	0.72893	-0.4154	10	0.66056	D	0.02	-9.9979	19.3941	0.94598	0.0:0.0:1.0:0.0	.	411;401;402	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	D	401;180;411	ENSP00000370113:G401D;ENSP00000430320:G180D;ENSP00000325074:G411D	ENSP00000325074:G411D	G	+	2	0	PPP2R2A	26283704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.165000	0.94761	2.885000	0.99019	0.655000	0.94253	GGC	PPP2R2A	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.448	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	G	NM_002717		26227787	1	no_errors	ENST00000380737	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26227787	G	A	26227787	3	1	160	1	0	0	0	0	1	0	0	0	12411	1203	42	4	1281	4	PPP2R2A	8	26227787	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8501552	26227787	120136235	1003	29276										
MAK16	84549	genome.wustl.edu	37	chr8	33346281	33346281	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttgtatatgaaggttataGaacgagcggcttttcctcgg	11	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:33346281G>C	ENST00000360128.6	+	4	662	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	69						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GAAGGTTATAGAACGAGCGGC	0.423																																																	0													88	86	87					8																	33346281		2203	4300	6503	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.205G>C	8.37:g.33346281G>C	ENSP00000353246:p.Glu69Gln		B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	pfam_Mak16,pirsf_Mak16	p.E69Q	ENST00000360128.6	37	c.205	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.470289	0.96274	.	.	ENSG00000198042	ENST00000360128	T	0.45276	0.9	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80286	-0.1446	10	0.87932	D	0	-25.1813	19.6488	0.95793	0.0:0.0:1.0:0.0	.	69	Q9BXY0	MAK16_HUMAN	Q	69	ENSP00000353246:E69Q	ENSP00000353246:E69Q	E	+	1	0	MAK16	33465823	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.025000	0.93694	2.758000	0.94735	0.561000	0.74099	GAA	MAK16	-	pirsf_Mak16		0.423	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	HGNC	protein_coding	OTTHUMT00000376559.3	G	NM_032509		33346281	1	no_errors	ENST00000360128	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33346281	G	C	33346281	3	2	160	1	0	0	0	0	1	0	0	0	9221	943	33	1	219	1	MAK16	8	33346281	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7118494	33346281	113017741	1004	29277										
DUSP26	78986	genome.wustl.edu	37	chr8	33454935	33454935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttgaacggttggcatctcCtccagggtccctcgagttcg	12	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:33454935C>T	ENST00000256261.4	-	2	616	c.99G>A	c.(97-99)gaG>gaA	p.E33E	DUSP26_ENST00000523956.1_Silent_p.E33E	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	33					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TTGGCATCTCCTCCAGGGTCC	0.552																																																	0													102	84	90					8																	33454935		2203	4300	6503	SO:0001819	synonymous_variant	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.99G>A	8.37:g.33454935C>T			D3DSV8|Q9BTW0	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.E33	ENST00000256261.4	37	c.99	CCDS6092.1	8																																																																																			DUSP26	-	NULL		0.552	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	C	NM_024025		33454935	-1	no_errors	ENST00000256261	ensembl	human	known	70_37	silent	SNP	0.994	T	T	33454935	C	T	33454935	2	4	160	1	0	0	0	0	0	0	0	1	4833	680	24	4		4	DUSP26	8	33454935	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	108654	33454935	112909087	1005	29278										
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37729373	37729373	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctgtctctccatcatcttCaacctgatctccgtcatctt	4	15	7	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:37729373C>A	ENST00000330843.4	-	4	2959	c.2947G>T	c.(2947-2949)Gaa>Taa	p.E983*	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	983					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCATCATCTTCAACCTGATCT	0.502																																																	0													147	116	126					8																	37729373		2203	4300	6503	SO:0001587	stop_gained	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2947G>T	8.37:g.37729373C>A	ENSP00000331342:p.Glu983*		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E983*	ENST00000330843.4	37	c.2947	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492695	0.84962	.	.	ENSG00000156675	ENST00000330843	.	.	.	0.18	0.18	0.15068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	.	.	.	.	.	.	.	X	983	.	ENSP00000331342:E983X	E	-	1	0	RAB11FIP1	37848531	0.006000	0.16342	0.017000	0.16124	0.022000	0.10575	-0.403000	0.07214	0.284000	0.22305	0.289000	0.19496	GAA	RAB11FIP1	-	NULL		0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37729373	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	nonsense	SNP	0.019	A	A	37729373	C	A	37729373	4	1	160	1	0	0	0	0	0	1	0	0	12923	835	29	3	916	3	RAB11FIP1	8	37729373	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4274438	37729373	108634649	1006	29279										
WHSC1L1	54904	genome.wustl.edu	37	chr8	38172265	38172265	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactctccctcacaaggaatCagagagtcaccagagctttc	7	14	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38172265C>T	ENST00000317025.8	-	12	2659	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L	WHSC1L1_ENST00000433384.2_Silent_p.L714L|WHSC1L1_ENST00000527502.1_Silent_p.L714L|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	714					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CACAAGGAATCAGAGAGTCAC	0.453			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													70	67	68					8																	38172265		1900	4128	6028	SO:0001819	synonymous_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2142G>A	8.37:g.38172265C>T			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L714	ENST00000317025.8	37	c.2142	CCDS43729.1	8																																																																																			WHSC1L1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.453	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38172265	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	silent	SNP	0.931	T	T	38172265	C	T	38172265	2	4	160	1	0	0	0	0	0	0	0	1	17394	813	29	1		1	WHSC1L1	8	38172265	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	442892	38172265	108191757	1007	29280										
ADAM9	8754	genome.wustl.edu	37	chr8	38874802	38874802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagaacagctctcattttGagcacatcatttatcgaatg	7	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38874802G>C	ENST00000487273.2	+	6	553	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	159					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTCTCATTTTGAGCACATCAT	0.388																																																	0													105	94	98					8																	38874802		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.475G>C	8.37:g.38874802G>C	ENSP00000419446:p.Glu159Gln		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.E159Q	ENST00000487273.2	37	c.475	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536210	0.64972	.	.	ENSG00000168615	ENST00000487273	T	0.06933	3.24	6.07	6.07	0.98685	Peptidase M12B, propeptide (1);	0.143085	0.64402	D	0.000007	T	0.14743	0.0356	L	0.35793	1.09	0.44055	D	0.996796	P	0.36110	0.537	P	0.50049	0.629	T	0.05386	-1.0888	10	0.33141	T	0.24	.	13.0405	0.58897	0.0756:0.0:0.9244:0.0	.	159	Q13443	ADAM9_HUMAN	Q	159	ENSP00000419446:E159Q	ENSP00000369249:E159Q	E	+	1	0	ADAM9	38993959	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.824000	0.39072	2.885000	0.99019	0.655000	0.94253	GAG	ADAM9	-	pfam_Peptidase_M12B_N		0.388	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	G			38874802	1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38874802	G	C	38874802	3	2	160	1	0	0	0	0	1	0	0	0	253	1291	45	1	497	1	ADAM9	8	38874802	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	702537	38874802	107489220	1008	29281										
ADAM9	8754	genome.wustl.edu	37	chr8	38874932	38874932	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcatgactcagctacttcGagtaaggaaataacataatt	7	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:38874932G>C	ENST00000487273.2	+	6	683	c.605G>C	c.(604-606)cGa>cCa	p.R202P	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	202					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CAGCTACTTCGAGTAAGGAAA	0.353																																																	0													52	45	47					8																	38874932		2203	4300	6503	SO:0001630	splice_region_variant	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.606+1G>C	8.37:g.38874932G>C			B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R202P	ENST00000487273.2	37	c.605	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403025	0.83230	.	.	ENSG00000168615	ENST00000487273	T	0.05649	3.41	5.6	5.6	0.85130	.	0.119202	0.53938	D	0.000046	T	0.11239	0.0274	N	0.08118	0	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	T	0.52290	-0.8595	10	0.24483	T	0.36	.	18.5979	0.91235	0.0:0.0:1.0:0.0	.	202	Q13443	ADAM9_HUMAN	P	202	ENSP00000419446:R202P	ENSP00000369249:R202P	R	+	2	0	ADAM9	38994089	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.442000	0.73443	2.630000	0.89119	0.591000	0.81541	CGA	ADAM9	-	NULL		0.353	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	G		Missense_Mutation	38874932	1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38874932	G	C	38874932	5	2	160	1	0	0	0	0	0	0	1	0	253	1072	37	1	627	1	ADAM9	8	38874932	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	130	38874932	107489090	1009	29282										
ADAM32	203102	genome.wustl.edu	37	chr8	39133369	39133369	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagatcagaaagcagcagtCaagctgatactagcaagtaa	9	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:39133369C>G	ENST00000379907.4	+	22	2390	c.2263C>G	c.(2263-2265)Caa>Gaa	p.Q755E	ADAM32_ENST00000437682.2_Missense_Mutation_p.Q656E|ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	755						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGCAGCAGTCAAGCTGATAC	0.308																																																	0													70	62	65					8																	39133369		1819	4061	5880	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2263C>G	8.37:g.39133369C>G	ENSP00000369238:p.Gln755Glu		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q755E	ENST00000379907.4	37	c.2263	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	C	8.072	0.770483	0.15983	.	.	ENSG00000197140	ENST00000437682;ENST00000379907	D;D	0.87103	-2.21;-2.21	3.61	0.622	0.17648	.	.	.	.	.	T	0.62804	0.2458	N	0.08118	0	0.09310	N	1	B;B	0.30326	0.276;0.276	B;B	0.20577	0.03;0.03	T	0.56878	-0.7906	9	0.02654	T	1	.	2.1654	0.03835	0.2017:0.4887:0.1961:0.1135	.	656;755	E7EPX8;Q8TC27	.;ADA32_HUMAN	E	656;755	ENSP00000405978:Q656E;ENSP00000369238:Q755E	ENSP00000369238:Q755E	Q	+	1	0	ADAM32	39252526	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.010000	0.13242	0.115000	0.18071	0.552000	0.68991	CAA	ADAM32	-	NULL		0.308	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	C	NM_145004		39133369	1	no_errors	ENST00000379907	ensembl	human	known	70_37	missense	SNP	0.000	G	G	39133369	C	G	39133369	3	3	160	1	0	0	0	0	1	0	0	0	249	827	29	1	2349	1	ADAM32	8	39133369	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	258437	39133369	107230653	1010	29283										
IDO2	169355	genome.wustl.edu	37	chr8	39806742	39806742	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cattgtctttggaaagctatCacatatctgaagagtatggc	9	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:39806742C>G	ENST00000389060.4	+	1	58	c.58C>G	c.(58-60)Cac>Gac	p.H20D	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.H33D|RP11-44K6.3_ENST00000517623.1_RNA			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	20					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGAAAGCTATCACATATCTGA	0.413																																																	0													72	70	71					8																	39806742		1897	4115	6012	SO:0001583	missense	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.58C>G	8.37:g.39806742C>G	ENSP00000426447:p.His20Asp		A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.H33D	ENST00000389060.4	37	c.97		8	.	.	.	.	.	.	.	.	.	.	-	8.371	0.835350	0.16820	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.39997	1.05;1.05	4.92	4.04	0.47022	.	0.211797	0.38436	N	0.001691	T	0.28200	0.0696	L	0.28776	0.89	0.27767	N	0.943629	B	0.24721	0.11	B	0.23419	0.046	T	0.14282	-1.0478	9	.	.	.	.	9.0261	0.36230	0.0:0.9009:0.0:0.0991	.	33	F5H5G0	.	D	33;20	ENSP00000443432:H33D;ENSP00000426447:H20D	.	H	+	1	0	IDO2	39925899	1.000000	0.71417	0.960000	0.40013	0.289000	0.27227	2.139000	0.42149	1.301000	0.44836	0.645000	0.84053	CAC	IDO2	-	pfam_Indolamine_dOase		0.413	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	C	NM_194294		39806742	1	no_errors	ENST00000502986	ensembl	human	known	70_37	missense	SNP	0.993	G	G	39806742	C	G	39806742	3	3	160	1	0	0	0	0	1	0	0	0	7522	826	29	1	103	1	IDO2	8	39806742	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	673373	39806742	106557280	1011	29284										
ZMAT4	79698	genome.wustl.edu	37	chr8	40554830	40554830	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttggcgtggattttgccttGataatgggaatcggccacca	12	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:40554830G>C	ENST00000297737.6	-	4	429	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	ZMAT4_ENST00000315769.7_Missense_Mutation_p.Q95E	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	95						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTGCCTTGATAATGGGAA	0.517																																																	0													168	154	159					8																	40554830		2203	4300	6503	SO:0001583	missense	79698			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.283C>G	8.37:g.40554830G>C	ENSP00000297737:p.Gln95Glu		Q8WUT8	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.Q95E	ENST00000297737.6	37	c.283	CCDS34885.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098645	0.76870	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.25579	1.79;1.79;1.79	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.41573	1.285	0.54753	D	0.999985	B;D	0.71674	0.022;0.998	B;D	0.80764	0.032;0.994	T	0.01956	-1.1240	10	0.19147	T	0.46	-27.1369	19.8676	0.96824	0.0:0.0:1.0:0.0	.	95;95	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	E	95	ENSP00000319785:Q95E;ENSP00000297737:Q95E;ENSP00000428423:Q95E	ENSP00000297737:Q95E	Q	-	1	0	ZMAT4	40673987	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.258000	0.95555	2.941000	0.99782	0.655000	0.94253	CAA	ZMAT4	-	smart_Znf_U1,smart_Znf_C2H2-like		0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	G	NM_024645		40554830	-1	no_errors	ENST00000297737	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40554830	G	C	40554830	3	2	160	1	0	0	0	0	1	0	0	0	17724	1299	45	1	422	1	ZMAT4	8	40554830	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	748088	40554830	105809192	1012	29285										
PRKDC	5591	genome.wustl.edu	37	chr8	48751794	48751794	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgggagtcattatctgtctCactttctggatctctgcttg	9	10	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:48751794C>T	ENST00000314191.2	-	57	7521	c.7465G>A	c.(7465-7467)Gag>Aag	p.E2489K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2489K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2490	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTATCTGTCTCACTTTCTGGA	0.393								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													104	91	95					8																	48751794		1849	4098	5947	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7465G>A	8.37:g.48751794C>T	ENSP00000313420:p.Glu2489Lys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2489K	ENST00000314191.2	37	c.7465		8	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046868	0.36085	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02345	4.4;4.33	5.2	3.38	0.38709	Armadillo-type fold (1);	0.293608	0.33572	N	0.004767	T	0.01940	0.0061	N	0.08118	0	0.20403	N	0.99991	B;B	0.17038	0.02;0.002	B;B	0.15870	0.014;0.007	T	0.45234	-0.9275	10	0.48119	T	0.1	.	10.8736	0.46899	0.0:0.143:0.7109:0.1461	.	2489;2490	E7EUY0;P78527	.;PRKDC_HUMAN	K	2489	ENSP00000313420:E2489K;ENSP00000345182:E2489K	ENSP00000313420:E2489K	E	-	1	0	PRKDC	48914347	1.000000	0.71417	0.841000	0.33234	0.766000	0.43426	4.206000	0.58473	0.555000	0.29079	-0.378000	0.06908	GAG	PRKDC	-	superfamily_ARM-type_fold		0.393	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48751794	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.994	T	T	48751794	C	T	48751794	3	4	160	1	0	0	0	0	1	0	0	0	12548	835	29	1	5042	1	PRKDC	8	48751794	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	8196964	48751794	97612228	1013	29286										
PRKDC	5591	genome.wustl.edu	37	chr8	48839863	48839863	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaccattcttctagagcattCaggcctacttctgccaaggg	9	12	4	1	rs561791968		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:48839863C>T	ENST00000314191.2	-	21	2366	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L770L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	770					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTAGAGCATTCAGGCCTACTT	0.408								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													86	79	81					8																	48839863		1869	4098	5967	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2310G>A	8.37:g.48839863C>T			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L770	ENST00000314191.2	37	c.2310		8																																																																																			PRKDC	-	superfamily_ARM-type_fold		0.408	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48839863	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48839863	C	T	48839863	2	4	160	1	0	0	0	0	0	0	0	1	12548	813	29	1		1	PRKDC	8	48839863	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	88069	48839863	97524159	1014	29287										
MCM4	4173	genome.wustl.edu	37	chr8	48880005	48880005	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtttgctcacaatgatctCgttgacaaggtccagcctgg	10	11	2	2	rs200241768		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:48880005C>G	ENST00000262105.2	+	9	1343	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L	MCM4_ENST00000523944.1_Silent_p.L378L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	378					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACAATGATCTCGTTGACAAGG	0.502																																																	0													239	195	210					8																	48880005		2203	4300	6503	SO:0001819	synonymous_variant	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1134C>G	8.37:g.48880005C>G			Q8NEH1|Q99658	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.L378	ENST00000262105.2	37	c.1134	CCDS6143.1	8																																																																																			MCM4	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.502	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	C	NM_005914		48880005	1	no_errors	ENST00000262105	ensembl	human	known	70_37	silent	SNP	0.312	G	G	48880005	C	G	48880005	2	3	160	1	0	0	0	0	0	0	0	1	9412	871	31	1		1	MCM4	8	48880005	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	40142	48880005	97484017	1015	29288										
ASPH	444	genome.wustl.edu	37	chr8	62465592	62465592	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aattcatatacccattacctCtttgttcccaaccctctgca	2	15	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:62465592C>G	ENST00000379454.4	-	20	1811	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	ASPH_ENST00000541428.1_Missense_Mutation_p.E513Q	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	542					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCCATTACCTCTTTGTTCCCA	0.403																																																	0													217	237	230					8																	62465592		2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1624G>C	8.37:g.62465592C>G	ENSP00000368767:p.Glu542Gln		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E542Q	ENST00000379454.4	37	c.1624	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470601	0.84533	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.37058	1.23;1.22	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.139794	0.56097	D	0.000035	T	0.50222	0.1603	L	0.28556	0.865	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.67231	0.95;0.893	T	0.49457	-0.8938	10	0.62326	D	0.03	-32.1332	19.8966	0.96963	0.0:1.0:0.0:0.0	.	513;542	F5H667;Q12797	.;ASPH_HUMAN	Q	513;542	ENSP00000437864:E513Q;ENSP00000368767:E542Q	ENSP00000368767:E542Q	E	-	1	0	ASPH	62628146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.244000	0.65400	2.700000	0.92200	0.655000	0.94253	GAG	ASPH	-	NULL		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62465592	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62465592	C	G	62465592	3	3	160	1	0	0	0	0	1	0	0	0	1054	922	32	1	676	1	ASPH	8	62465592	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	13585587	62465592	83898430	1016	29289										
GGH	8836	genome.wustl.edu	37	chr8	63927960	63927960	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attggactgaactgataaatCaatgctttctcctcttcaga	6	9	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:63927960C>T	ENST00000260118.6	-	9	1290	c.888G>A	c.(886-888)ttG>ttA	p.L296L	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	296	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ACTGATAAATCAATGCTTTCT	0.284																																																	0													73	74	74					8																	63927960		2197	4294	6491	SO:0001819	synonymous_variant	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.888G>A	8.37:g.63927960C>T				Silent	SNP	pfam_Peptidase_C26,pfam_GATASE_1	p.L296	ENST00000260118.6	37	c.888	CCDS6177.1	8																																																																																			GGH	-	NULL		0.284	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	C			63927960	-1	no_errors	ENST00000260118	ensembl	human	known	70_37	silent	SNP	0.999	T	T	63927960	C	T	63927960	2	4	160	1	0	0	0	0	0	0	0	1	6376	825	29	1		1	GGH	8	63927960	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1462368	63927960	82436062	1017	29290										
C8orf46	254778	genome.wustl.edu	37	chr8	67428146	67428146	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatccagacatctcaagaaGatgactgaagagtatccagc	9	9	1	7			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:67428146G>C	ENST00000305454.3	+	6	900	c.459G>C	c.(457-459)aaG>aaC	p.K153N	C8orf46_ENST00000522977.1_Missense_Mutation_p.D133H|C8orf46_ENST00000521495.1_Missense_Mutation_p.D121H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	153										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATCTCAAGAAGATGACTGAAG	0.537																																																	0													86	81	83					8																	67428146		2203	4300	6503	SO:0001583	missense	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.459G>C	8.37:g.67428146G>C	ENSP00000302260:p.Lys153Asn		B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.K153N	ENST00000305454.3	37	c.459	CCDS6191.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626980|2.626980	0.46840|0.46840	.|.	.|.	ENSG00000169085|ENSG00000169085	ENST00000521495;ENST00000522977|ENST00000305454	.|.	.|.	.|.	5.13|5.13	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.64402	.|D	.|0.000016	T|T	0.56863|0.56863	0.2014|0.2014	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|D	0.65815|0.76494	0.995|0.999	P|D	0.58873|0.83275	0.847|0.996	T|T	0.59799|0.59799	-0.7386|-0.7386	8|9	0.87932|0.87932	D|D	0|0	-7.7577|-7.7577	9.5339|9.5339	0.39211|0.39211	0.1629:0.0:0.8371:0.0|0.1629:0.0:0.8371:0.0	.|.	133|153	Q8TAG6-2|Q8TAG6	.|CH046_HUMAN	H|N	121;133|153	.|.	ENSP00000430501:D121H|ENSP00000302260:K153N	D|K	+|+	1|3	0|2	C8orf46|C8orf46	67590700|67590700	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	3.242000|3.242000	0.51384|0.51384	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	GAT|AAG	C8orf46	-	NULL		0.537	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	G	NM_152765		67428146	1	no_errors	ENST00000305454	ensembl	human	known	70_37	missense	SNP	0.990	C	C	67428146	G	C	67428146	3	2	160	1	0	0	0	0	1	0	0	0	2436	933	33	1	481	1	C8orf46	8	67428146	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3500186	67428146	78935876	1018	29291										
VCPIP1	80124	genome.wustl.edu	37	chr8	67579043	67579043	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgcgcctgacacttcggatCcgggcagctcccggaaagga	13	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:67579043C>G	ENST00000310421.4	-	1	409	c.151G>C	c.(151-153)Gat>Cat	p.D51H	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	51					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CACTTCGGATCCGGGCAGCTC	0.647																																					NSCLC(179;265 2915 6144 43644)												0													20	24	23					8																	67579043		2202	4300	6502	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.151G>C	8.37:g.67579043C>G	ENSP00000309031:p.Asp51His		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D51H	ENST00000310421.4	37	c.151	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.262100	0.95368	.	.	ENSG00000175073	ENST00000310421	T	0.39787	1.06	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.55112	0.769	T	0.58387	-0.7645	10	0.87932	D	0	-17.3748	20.3409	0.98764	0.0:1.0:0.0:0.0	.	51	Q96JH7	VCIP1_HUMAN	H	51	ENSP00000309031:D51H	ENSP00000309031:D51H	D	-	1	0	VCPIP1	67741597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.330000	0.79181	2.814000	0.96858	0.655000	0.94253	GAT	VCPIP1	-	NULL		0.647	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67579043	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67579043	C	G	67579043	3	3	160	1	0	0	0	0	1	0	0	0	17172	855	30	1	3529	1	VCPIP1	8	67579043	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	150897	67579043	78784979	1019	29292										
ARFGEF1	10565	genome.wustl.edu	37	chr8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatcgaatgttagcagcttGagaattaaccatctgtgcta	9	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363																																																	0													143	142	142					8																	68139489		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3799C>G	8.37:g.68139489G>C	ENSP00000262215:p.Gln1267Glu		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.Q1267E	ENST00000262215.3	37	c.3799	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961446	0.92791	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T	0.65178	-0.14;-0.08;-0.1	5.56	5.56	0.83823	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	M	0.85373	2.75	0.80722	D	1	D;P;P	0.69078	0.997;0.949;0.949	D;P;P	0.71414	0.973;0.78;0.78	D	0.84363	0.0539	10	0.72032	D	0.01	.	19.5224	0.95190	0.0:0.0:1.0:0.0	.	1267;745;721	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	E	721;1267;105;116	ENSP00000428429:Q721E;ENSP00000262215:Q1267E;ENSP00000430891:Q105E	ENSP00000262215:Q1267E	Q	-	1	0	ARFGEF1	68302043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.611000	0.88343	0.585000	0.79938	CAA	ARFGEF1	-	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold		0.363	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	G	NM_006421		68139489	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68139489	G	C	68139489	3	2	160	1	0	0	0	0	1	0	0	0	852	1299	45	1	1802	1	ARFGEF1	8	68139489	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	560446	68139489	78224533	1020	29293										
NCOA2	10499	genome.wustl.edu	37	chr8	71036975	71036975	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttatgtcggagggggcctGataggctgggttggcctgag	18	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:71036975G>C	ENST00000452400.2	-	20	4223	c.4042C>G	c.(4042-4044)Cag>Gag	p.Q1348E	NCOA2_ENST00000267974.4_Missense_Mutation_p.Q436E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1348					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q1348*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGGGCCTGATAGGCTGGG	0.552			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - Nonsense(1)	endometrium(1)											87	98	94					8																	71036975		1994	4177	6171	SO:0001583	missense	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4042C>G	8.37:g.71036975G>C	ENSP00000399968:p.Gln1348Glu		Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.Q1348E	ENST00000452400.2	37	c.4042	CCDS47872.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.001297|5.001297	0.93227|0.93227	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.10763	.|4.0;2.84	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.054647	.|0.85682	.|D	.|0.000000	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.76494	.|0.999;0.986	.|D;D	.|0.80764	.|0.994;0.968	T|T	0.00603|0.00603	-1.1649|-1.1649	5|10	.|0.72032	.|D	.|0.01	.|.	20.0685|20.0685	0.97708|0.97708	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|436;1348	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	M|E	448|1348;436	.|ENSP00000399968:Q1348E;ENSP00000267974:Q436E	.|ENSP00000267974:Q436E	I|Q	-|-	3|1	3|0	NCOA2|NCOA2	71199529|71199529	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	9.472000|9.472000	0.97709|0.97709	2.735000|2.735000	0.93741|0.93741	0.650000|0.650000	0.86243|0.86243	ATC|CAG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator		0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	G			71036975	-1	no_errors	ENST00000452400	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71036975	G	C	71036975	3	2	160	1	0	0	0	0	1	0	0	0	10253	1299	45	1	368	1	NCOA2	8	71036975	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2897486	71036975	75327047	1021	29294										
MRPS28	28957	genome.wustl.edu	37	chr8	80942405	80942405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actctcagtgcctacaccccGaaagggcctgaagaagagaa	10	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:80942405G>A	ENST00000276585.4	-	1	101	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	RP11-92K15.3_ENST00000607017.1_lincRNA|MRPS28_ENST00000522987.1_5'UTR|TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000521605.1_Missense_Mutation_p.R27W|MRPS28_ENST00000521434.1_5'Flank	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	27						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CCTACACCCCGAAAGGGCCTG	0.587																																																	0													39	42	41					8																	80942405		2203	4300	6503	SO:0001583	missense	28957			AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"Mitochondrial ribosomal proteins / small subunits"	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.79C>T	8.37:g.80942405G>A	ENSP00000276585:p.Arg27Trp		B2RDZ7|Q96Q21	Missense_Mutation	SNP	pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like	p.R27W	ENST00000276585.4	37	c.79	CCDS6226.1	8	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318388	0.60524	.	.	ENSG00000147586	ENST00000276585;ENST00000521605	T	0.51071	0.72	5.38	3.53	0.40419	.	0.452064	0.17689	N	0.165321	T	0.51618	0.1685	L	0.32530	0.975	0.47949	D	0.999557	D	0.76494	0.999	P	0.61722	0.893	T	0.49143	-0.8970	10	0.59425	D	0.04	.	9.7929	0.40717	0.0:0.1526:0.6887:0.1586	.	27	Q9Y2Q9	RT28_HUMAN	W	27	ENSP00000276585:R27W	ENSP00000276585:R27W	R	-	1	2	MRPS28	81104960	0.014000	0.17966	0.356000	0.25785	0.537000	0.34900	0.475000	0.22164	0.785000	0.33685	0.655000	0.94253	CGG	MRPS28	-	NULL		0.587	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS28	HGNC	protein_coding	OTTHUMT00000379526.1	G	NM_014018		80942405	-1	no_errors	ENST00000276585	ensembl	human	known	70_37	missense	SNP	0.489	A	A	80942405	G	A	80942405	3	1	160	1	0	0	0	0	1	0	0	0	9862	1057	37	1	496	1	MRPS28	8	80942405	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9905430	80942405	65421617	1022	29295										
E2F5	1875	genome.wustl.edu	37	chr8	86089801	86089801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcgccgggggcggcagcaGcaggcacgagaagagcctgg	21	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:86089801G>A	ENST00000416274.2	+	1	180	c.146G>A	c.(145-147)aGc>aAc	p.S49N	E2F5_ENST00000418930.2_Missense_Mutation_p.S49N|RP11-219B4.3_ENST00000520129.1_RNA|E2F5_ENST00000256117.5_Missense_Mutation_p.S49N|RP11-219B4.7_ENST00000562577.1_RNA|RP11-219B4.7_ENST00000566000.1_RNA	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	49					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GGCGGCAGCAGCAGGCACGAG	0.746																																																	0													7	8	8					8																	86089801		2139	4254	6393	SO:0001583	missense	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.146G>A	8.37:g.86089801G>A	ENSP00000398124:p.Ser49Asn		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	pfam_E2F_TDP	p.S49N	ENST00000416274.2	37	c.146	CCDS47885.1	8	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895241	0.52121	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274	T;T;T	0.06933	3.24;3.26;3.25	3.55	3.55	0.40652	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.07638	0.0192	N	0.08118	0	0.80722	D	1	P;P	0.44139	0.827;0.734	P;B	0.49192	0.602;0.398	T	0.42498	-0.9448	10	0.52906	T	0.07	-8.1793	12.671	0.56866	0.0:0.0:1.0:0.0	.	49;49	Q15329-2;Q15329	.;E2F5_HUMAN	N	49	ENSP00000414312:S49N;ENSP00000256117:S49N;ENSP00000398124:S49N	ENSP00000256117:S49N	S	+	2	0	E2F5	86277053	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	6.055000	0.71103	1.801000	0.52704	0.462000	0.41574	AGC	E2F5	-	NULL		0.746	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	G	NM_001951		86089801	1	no_errors	ENST00000256117	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86089801	G	A	86089801	3	1	160	1	0	0	0	0	1	0	0	0	4880	971	34	4	148	4	E2F5	8	86089801	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5147396	86089801	60274221	1023	29296										
PSKH2	85481	genome.wustl.edu	37	chr8	87076230	87076230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatttgcctttcagaatcttCctgtaaagccttgtctggct	7	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:87076230C>G	ENST00000276616.2	-	2	890	c.816G>C	c.(814-816)agG>agC	p.R272S	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCAGAATCTTCCTGTAAAGCC	0.413																																																	0													66	68	67					8																	87076230		2203	4300	6503	SO:0001583	missense	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.816G>C	8.37:g.87076230C>G	ENSP00000276616:p.Arg272Ser		A0AV22	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.R272S	ENST00000276616.2	37	c.816	CCDS6240.1	8	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770092	0.31320	.	.	ENSG00000147613	ENST00000276616	T	0.65732	-0.17	4.98	3.17	0.36434	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.44746	0.1308	N	0.21508	0.67	0.21220	N	0.999758	B	0.24258	0.1	B	0.32149	0.141	T	0.33240	-0.9876	9	0.20046	T	0.44	.	4.5418	0.12061	0.0:0.6171:0.1855:0.1974	.	272	Q96QS6	KPSH2_HUMAN	S	272	ENSP00000276616:R272S	ENSP00000276616:R272S	R	-	3	2	PSKH2	87145346	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.290000	0.33319	1.074000	0.40909	0.655000	0.94253	AGG	PSKH2	-	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		0.413	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	C	NM_033126		87076230	-1	no_errors	ENST00000276616	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87076230	C	G	87076230	3	3	160	1	0	0	0	0	1	0	0	0	12692	854	30	1	347	1	PSKH2	8	87076230	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	986429	87076230	59287792	1024	29297										
SLC26A7	115111	genome.wustl.edu	37	chr8	92375748	92375748	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagaaatggaatttaaagtGaagacagaaatggacagtgt	11	2	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:92375748G>A	ENST00000276609.3	+	13	1709	c.1470G>A	c.(1468-1470)gtG>gtA	p.V490V	SLC26A7_ENST00000523719.1_Silent_p.V490V|SLC26A7_ENST00000309536.2_Silent_p.V490V|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AATTTAAAGTGAAGACAGAAA	0.254																																																	0													68	76	73					8																	92375748		2193	4290	6483	SO:0001819	synonymous_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1470G>A	8.37:g.92375748G>A				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V490	ENST00000276609.3	37	c.1470	CCDS6254.1	8																																																																																			SLC26A7	-	superfamily_STAS_dom		0.254	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	G			92375748	1	no_errors	ENST00000309536	ensembl	human	known	70_37	silent	SNP	1.000	A	A	92375748	G	A	92375748	2	1	160	1	0	0	0	0	0	0	0	1	14552	1277	45	1		1	SLC26A7	8	92375748	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5299518	92375748	53988274	1025	29298										
RBM12B	389677	genome.wustl.edu	37	chr8	94747681	94747681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atatcttgttctattttcatCtttatataaaaacctaatct	1	7	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:94747681C>G	ENST00000399300.2	-	3	1171	c.958G>C	c.(958-960)Gat>Cat	p.D320H	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D320H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	320	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTATTTTCATCTTTATATAAA	0.323																																																	0													64	64	64					8																	94747681		1813	4075	5888	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.958G>C	8.37:g.94747681C>G	ENSP00000382239:p.Asp320His		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D320H	ENST00000399300.2	37	c.958	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800493	0.31869	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09073	3.02;3.02	5.26	4.28	0.50868	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.083878	0.51477	D	0.000093	T	0.06645	0.0170	L	0.48877	1.53	0.37617	D	0.921153	B	0.26935	0.164	B	0.27608	0.081	T	0.30268	-0.9984	10	0.17832	T	0.49	-20.2877	2.7627	0.05311	0.135:0.5441:0.148:0.1728	.	320	Q8IXT5	RB12B_HUMAN	H	320	ENSP00000382239:D320H;ENSP00000427729:D320H	ENSP00000382239:D320H	D	-	1	0	RBM12B	94816857	0.689000	0.27690	0.978000	0.43139	0.941000	0.58515	0.989000	0.29629	1.186000	0.42985	0.591000	0.81541	GAT	RBM12B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.323	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	C	NM_203390		94747681	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	missense	SNP	0.771	G	G	94747681	C	G	94747681	3	3	160	1	0	0	0	0	1	0	0	0	13144	913	32	1	2051	1	RBM12B	8	94747681	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2371933	94747681	51616341	1026	29299										
RBM12B	389677	genome.wustl.edu	37	chr8	94747717	94747717	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatctgttcatcagtcagatCagtacctctaaagaaatttc	5	9	6	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:94747717C>G	ENST00000399300.2	-	3	1135	c.922G>C	c.(922-924)Gat>Cat	p.D308H	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D308H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	308	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAGTCAGATCAGTACCTCTA	0.338																																																	0													60	59	59					8																	94747717		1808	4073	5881	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.922G>C	8.37:g.94747717C>G	ENSP00000382239:p.Asp308His		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D308H	ENST00000399300.2	37	c.922	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532963	0.45073	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.30714	1.52;1.52	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	T	0.57548	0.2061	M	0.70275	2.135	0.49389	D	0.999788	D	0.89917	1.0	D	0.97110	1.0	T	0.59375	-0.7466	10	0.62326	D	0.03	-28.1308	19.2131	0.93765	0.0:1.0:0.0:0.0	.	308	Q8IXT5	RB12B_HUMAN	H	308	ENSP00000382239:D308H;ENSP00000427729:D308H	ENSP00000382239:D308H	D	-	1	0	RBM12B	94816893	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.673000	0.46858	2.614000	0.88457	0.591000	0.81541	GAT	RBM12B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.338	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	C	NM_203390		94747717	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94747717	C	G	94747717	3	3	160	1	0	0	0	0	1	0	0	0	13144	826	29	1	2087	1	RBM12B	8	94747717	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	36	94747717	51616305	1027	29300										
RAD54B	25788	genome.wustl.edu	37	chr8	95390835	95390835	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatatgtacaggatatttctGaccatctctccatactctag	5	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:95390835G>A	ENST00000336148.5	-	13	2399	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	759	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGATATTTCTGACCATCTCTC	0.343								Direct reversal of damage;Homologous recombination																																									0													92	95	94					8																	95390835		2203	4300	6503	SO:0001587	stop_gained	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2275C>T	8.37:g.95390835G>A	ENSP00000336606:p.Gln759*		F6WBS8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q759*	ENST00000336148.5	37	c.2275	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.570279	0.98365	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.76	5.76	0.90799	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.7494	19.9596	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	X	759;431	.	ENSP00000336606:Q759X	Q	-	1	0	RAD54B	95460011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.355000	0.97087	2.726000	0.93360	0.655000	0.94253	CAG	RAD54B	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C		0.343	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	G	NM_012415		95390835	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	95390835	G	A	95390835	4	1	160	1	0	0	0	0	0	1	0	0	13022	1299	45	1	469	1	RAD54B	8	95390835	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	643118	95390835	50973187	1028	29301										
RAD54B	25788	genome.wustl.edu	37	chr8	95479678	95479678	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttttgtaatctcttcattCagacctggattacttcttcc	5	10	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:95479678C>G	ENST00000336148.5	-	2	214	c.90G>C	c.(88-90)ctG>ctC	p.L30L	RAD54B_ENST00000297592.5_Silent_p.L30L	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	30			L -> V (in dbSNP:rs28910279).		ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTCTTCATTCAGACCTGGAT	0.348								Direct reversal of damage;Homologous recombination																																									0													124	122	123					8																	95479678		2203	4300	6503	SO:0001819	synonymous_variant	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.90G>C	8.37:g.95479678C>G			F6WBS8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L30	ENST00000336148.5	37	c.90	CCDS6262.1	8																																																																																			RAD54B	-	NULL		0.348	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	C	NM_012415		95479678	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	silent	SNP	0.011	G	G	95479678	C	G	95479678	2	3	160	1	0	0	0	0	0	0	0	1	13022	813	29	1		1	RAD54B	8	95479678	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	88843	95479678	50884344	1029	29302										
ESRP1	54845	genome.wustl.edu	37	chr8	95674553	95674553	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatatggagcctctcaagttGaagatatggggaatataatt	11	4	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:95674553G>C	ENST00000433389.2	+	5	734	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	ESRP1_ENST00000454170.2_Missense_Mutation_p.E182Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.E182Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.E182Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	182					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTCTCAAGTTGAAGATATGGG	0.323																																																	0													91	87	88					8																	95674553		1806	4070	5876	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.544G>C	8.37:g.95674553G>C	ENSP00000405738:p.Glu182Gln		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.E182Q	ENST00000433389.2	37	c.544	CCDS47897.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.663616|1.663616	0.29515|0.29515	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000520385;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;2.83|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Ribonuclease H-like (1);|.	0.091444|.	0.85682|.	D|.	0.000000|.	T|.	0.28962|.	0.0719|.	N|N	0.00879|0.00879	-1.12|-1.12	0.42316|0.42316	D|D	0.992236|0.992236	B;B;B;B;B;B|.	0.15473|.	0.013;0.001;0.001;0.002;0.004;0.0|.	B;B;B;B;B;B|.	0.19148|.	0.024;0.007;0.004;0.003;0.007;0.003|.	T|.	0.38001|.	-0.9681|.	10|.	0.23302|.	T|.	0.38|.	-20.1399|-20.1399	19.961|19.961	0.97250|0.97250	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	182;182;182;182;182;182|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	Q|S	182;182;182;182;22;41|47	ENSP00000407349:E182Q;ENSP00000405738:E182Q;ENSP00000351168:E182Q;ENSP00000402766:E182Q;ENSP00000429125:E41Q|.	ENSP00000351168:E182Q|.	E|X	+|+	1|2	0|2	ESRP1|ESRP1	95743729|95743729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.900000|3.900000	0.56295|0.56295	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	GAA|TGA	ESRP1	-	superfamily_RNaseH-like_dom		0.323	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	G	NM_017697		95674553	1	no_errors	ENST00000433389	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95674553	G	C	95674553	3	2	160	1	0	0	0	0	1	0	0	0	5270	1291	45	1	562	1	ESRP1	8	95674553	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	194875	95674553	50689469	1030	29303										
MTDH	92140	genome.wustl.edu	37	chr8	98699729	98699729	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgataaggtgctgactgattCtggttcattggattcaacta	10	6	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:98699729C>G	ENST00000336273.3	+	4	969	c.641C>G	c.(640-642)tCt>tGt	p.S214C	MTDH_ENST00000519934.1_Missense_Mutation_p.S191C	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	214					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGACTGATTCTGGTTCATTG	0.423																																																	0													175	159	165					8																	98699729		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.641C>G	8.37:g.98699729C>G	ENSP00000338235:p.Ser214Cys		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	NULL	p.S214C	ENST00000336273.3	37	c.641	CCDS6274.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.364454|3.364454	0.61513|0.61513	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000522313|ENST00000336273;ENST00000519934	.|T;T	.|0.09350	.|2.99;2.99	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.232397	.|0.45606	.|D	.|0.000346	T|T	0.15305|0.15305	0.0369|0.0369	N|N	0.14661|0.14661	0.345|0.345	0.48452|0.48452	D|D	0.999652|0.999652	.|D	.|0.67145	.|0.996	.|P	.|0.59288	.|0.855	T|T	0.02378|0.02378	-1.1168|-1.1168	5|10	.|0.66056	.|D	.|0.02	-6.0166|-6.0166	14.8061|14.8061	0.69956|0.69956	0.0:0.846:0.154:0.0|0.0:0.846:0.154:0.0	.|.	.|214	.|Q86UE4	.|LYRIC_HUMAN	V|C	119|214;191	.|ENSP00000338235:S214C;ENSP00000428168:S191C	.|ENSP00000338235:S214C	L|S	+|+	1|2	2|0	MTDH|MTDH	98768905|98768905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.191000|2.191000	0.42640|0.42640	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CTG|TCT	MTDH	-	NULL		0.423	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	C			98699729	1	no_errors	ENST00000336273	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98699729	C	G	98699729	3	3	160	1	0	0	0	0	1	0	0	0	9940	913	32	1	655	1	MTDH	8	98699729	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3025176	98699729	47664293	1031	29304										
MATN2	4147	genome.wustl.edu	37	chr8	99030257	99030257	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagctatagaccatggctgtGaacacatttgtgtgaacagt	10	7	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:99030257G>C	ENST00000520016.1	+	11	1856	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	MATN2_ENST00000524308.1_Missense_Mutation_p.E537Q|MATN2_ENST00000254898.5_Missense_Mutation_p.E578Q|MATN2_ENST00000522025.2_Missense_Mutation_p.E294Q|MATN2_ENST00000521689.1_Missense_Mutation_p.E578Q			O00339	MATN2_HUMAN	matrilin 2	578	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCATGGCTGTGAACACATTTG	0.483																																																	0													257	261	260					8																	99030257		2076	4213	6289	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1732G>C	8.37:g.99030257G>C	ENSP00000430487:p.Glu578Gln		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.E578Q	ENST00000520016.1	37	c.1732	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533431|2.533431	0.45073|0.45073	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154;ENST00000517321	D;D;D;D;D|.	0.96685|.	-4.09;-4.09;-4.09;-4.09;-4.09|.	5.2|5.2	5.2|5.2	0.72013|0.72013	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.221665|.	0.32147|.	N|.	0.006519|.	T|.	0.55433|.	0.1920|.	N|N	0.21240|0.21240	0.645|0.645	0.53005|0.53005	D|D	0.999966|0.999966	D;D;D;D|.	0.76494|.	0.996;0.996;0.999;0.996|.	D;D;D;D|.	0.67231|.	0.95;0.95;0.917;0.95|.	T|.	0.49370|.	-0.8947|.	10|.	0.10377|.	T|.	0.69|.	-29.9572|-29.9572	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	537;578;578;578|.	C9JH87;E9PF03;O00339-2;O00339|.	.;.;.;MATN2_HUMAN|.	Q|S	578;578;537;537;294;578|360;52	ENSP00000429977:E578Q;ENSP00000254898:E578Q;ENSP00000430221:E537Q;ENSP00000429010:E294Q;ENSP00000430487:E578Q|.	ENSP00000254898:E578Q|.	E|X	+|+	1|2	0|2	MATN2|MATN2	99099433|99099433	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.946000|0.946000	0.59487|0.59487	3.847000|3.847000	0.55895|0.55895	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAA|TGA	MATN2	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.483	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	G			99030257	1	no_errors	ENST00000254898	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99030257	G	C	99030257	3	2	160	1	0	0	0	0	1	0	0	0	9357	1291	45	1	1774	1	MATN2	8	99030257	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	330528	99030257	47333765	1032	29305										
VPS13B	157680	genome.wustl.edu	37	chr8	100147948	100147948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcagaatttatcttggattCaactcatcataaggttagag	8	7	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:100147948C>T	ENST00000358544.2	+	11	1661	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	VPS13B_ENST00000357162.2_Missense_Mutation_p.S517L|VPS13B_ENST00000355155.1_Missense_Mutation_p.S517L|VPS13B_ENST00000395996.1_Missense_Mutation_p.S517L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	517					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTTGGATTCAACTCATCAT	0.348																																					Colon(161;2205 2542 7338 31318)												0													79	72	74					8																	100147948		2203	4299	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1550C>T	8.37:g.100147948C>T	ENSP00000351346:p.Ser517Leu		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S517L	ENST00000358544.2	37	c.1550	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179164	0.21787	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75704	-0.96;-0.24;-0.24;0.04	5.36	4.47	0.54385	.	0.283439	0.30177	N	0.010227	T	0.57007	0.2024	N	0.14661	0.345	0.32983	D	0.523973	B;B;B;B	0.19200	0.034;0.02;0.01;0.0	B;B;B;B	0.18561	0.022;0.01;0.022;0.0	T	0.56872	-0.7907	10	0.11182	T	0.66	.	15.5191	0.75851	0.0:0.7385:0.2615:0.0	.	517;517;517;517	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	L	517	ENSP00000347281:S517L;ENSP00000349685:S517L;ENSP00000351346:S517L;ENSP00000379318:S517L	ENSP00000347281:S517L	S	+	2	0	VPS13B	100217124	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.800000	0.47900	1.365000	0.46057	0.655000	0.94253	TCA	VPS13B	-	NULL		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100147948	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100147948	C	T	100147948	3	4	160	1	0	0	0	0	1	0	0	0	17221	838	29	1	1630	1	VPS13B	8	100147948	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1117691	100147948	46216074	1033	29306										
VPS13B	157680	genome.wustl.edu	37	chr8	100844848	100844848	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagagtgtggcagtacccctCgggaatttccgggaaaatgg	14	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:100844848C>T	ENST00000358544.2	+	52	9768	c.9657C>T	c.(9655-9657)ctC>ctT	p.L3219L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3194L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3219					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGTACCCCTCGGGAATTTCC	0.473																																					Colon(161;2205 2542 7338 31318)												0													56	58	58					8																	100844848		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9657C>T	8.37:g.100844848C>T			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.L3219	ENST00000358544.2	37	c.9657	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100844848	1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.000	T	T	100844848	C	T	100844848	2	4	160	1	0	0	0	0	0	0	0	1	17221	871	31	1		1	VPS13B	8	100844848	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	696900	100844848	45519174	1034	29307										
RGS22	26166	genome.wustl.edu	37	chr8	100994308	100994308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatagttgtaatcttcttctGgatgacagactcatcacaat	6	8	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:100994308G>A	ENST00000360863.6	-	22	3411	c.3217C>T	c.(3217-3219)Cag>Tag	p.Q1073*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.Q1061*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.Q892*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1073	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTCTTCTGGATGACAGAC	0.353																																																	0													106	100	102					8																	100994308		1852	4096	5948	SO:0001587	stop_gained	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3217C>T	8.37:g.100994308G>A	ENSP00000354109:p.Gln1073*		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.Q1073*	ENST00000360863.6	37	c.3217	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	46	12.221510	0.99647	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	.	.	.	5.18	5.18	0.71444	.	0.218697	0.39909	N	0.001232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	18.6775	0.91534	0.0:0.0:1.0:0.0	.	.	.	.	X	1073;1060;892;1061	.	ENSP00000354109:Q1073X	Q	-	1	0	RGS22	101063484	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.199000	0.95003	2.390000	0.81377	0.591000	0.81541	CAG	RGS22	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	G	NM_015668		100994308	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	100994308	G	A	100994308	4	1	160	1	0	0	0	0	0	1	0	0	13335	1357	47	4	601	4	RGS22	8	100994308	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	149460	100994308	45369714	1035	29308										
FBXO43	286151	genome.wustl.edu	37	chr8	101154311	101154311	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggtggagtacttggagttGacaattggaggagagtccgc	16	5	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:101154311G>C	ENST00000428847.2	-	2	487	c.171C>G	c.(169-171)gtC>gtG	p.V57V		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	57					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACTTGGAGTTGACAATTGGAG	0.413																																																	0													68	71	70					8																	101154311		1957	4150	6107	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.171C>G	8.37:g.101154311G>C				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.V57	ENST00000428847.2	37	c.171	CCDS47904.1	8																																																																																			FBXO43	-	NULL		0.413	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	G	XM_209918		101154311	-1	no_errors	ENST00000428847	ensembl	human	known	70_37	silent	SNP	0.002	C	C	101154311	G	C	101154311	2	2	160	1	0	0	0	0	0	0	0	1	5770	1277	45	1		1	FBXO43	8	101154311	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	160003	101154311	45209711	1036	29309										
RNF19A	25897	genome.wustl.edu	37	chr8	101270981	101270981	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaccacagaaatgctacactGatgtggggaattttccagac	9	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:101270981G>C	ENST00000519449.1	-	11	2636	c.2320C>G	c.(2320-2322)Cag>Gag	p.Q774E	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Missense_Mutation_p.Q774E	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	774	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATGCTACACTGATGTGGGGAA	0.398																																																	0													94	96	95					8																	101270981		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2320C>G	8.37:g.101270981G>C	ENSP00000428968:p.Gln774Glu		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.Q774E	ENST00000519449.1	37	c.2320	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239886	0.39598	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.83163	-1.69;-1.69	5.96	5.96	0.96718	.	0.242338	0.42964	D	0.000621	T	0.79311	0.4424	L	0.36672	1.1	0.42403	D	0.992579	B	0.13145	0.007	B	0.09377	0.004	T	0.72915	-0.4147	10	0.56958	D	0.05	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	774	Q9NV58	RN19A_HUMAN	E	774	ENSP00000428968:Q774E;ENSP00000342667:Q774E	ENSP00000342667:Q774E	Q	-	1	0	RNF19A	101340157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.624000	0.74243	2.819000	0.97034	0.585000	0.79938	CAG	RNF19A	-	NULL		0.398	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	G	NM_015435		101270981	-1	no_errors	ENST00000341084	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101270981	G	C	101270981	3	2	160	1	0	0	0	0	1	0	0	0	13500	1299	45	1	200	1	RNF19A	8	101270981	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	116670	101270981	45093041	1037	29310										
NCALD	83988	genome.wustl.edu	37	chr8	102731624	102731624	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aattctctaaagtctattgtCccatctccatttgcatcgaa	4	11	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:102731624C>T	ENST00000311028.3	-	5	612	c.234G>A	c.(232-234)ggG>ggA	p.G78G	NCALD_ENST00000522951.1_Silent_p.G78G|NCALD_ENST00000519508.2_Silent_p.G78G|NCALD_ENST00000220931.6_Silent_p.G78G|NCALD_ENST00000395923.1_Silent_p.G78G|NCALD_ENST00000521599.1_Silent_p.G78G	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	78	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGTCTATTGTCCCATCTCCAT	0.458																																																	0													152	150	151					8																	102731624		2203	4300	6503	SO:0001819	synonymous_variant	83988			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.234G>A	8.37:g.102731624C>T			P29554|Q8IYC3|Q9H0W2	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.G78	ENST00000311028.3	37	c.234	CCDS6292.1	8																																																																																			NCALD	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.458	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	HGNC	protein_coding	OTTHUMT00000380732.2	C			102731624	-1	no_errors	ENST00000311028	ensembl	human	known	70_37	silent	SNP	1.000	T	T	102731624	C	T	102731624	2	4	160	1	0	0	0	0	0	0	0	1	10225	842	30	1		1	NCALD	8	102731624	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1460643	102731624	43632398	1038	29311										
RIMS2	9699	genome.wustl.edu	37	chr8	104513169	104513169	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcccatcccggcggcctctCagccgcctctgcagcccgag	10	21	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:104513169C>G	ENST00000406091.3	+	1	55	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	19					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCGGCCTCTCAGCCGCCTCT	0.647										HNSCC(12;0.0054)																																							0													18	22	21					8																	104513169		1862	4075	5937	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.55C>G	8.37:g.104513169C>G	ENSP00000384892:p.Gln19Glu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.Q19E	ENST00000406091.3	37	c.55	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	C	9.890	1.204042	0.22205	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.16597	2.33;2.82	3.89	3.89	0.44902	.	.	.	.	.	T	0.15565	0.0375	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03981	-1.0987	9	0.45353	T	0.12	.	12.9549	0.58421	0.0:1.0:0.0:0.0	.	19	F8WD47	.	E	19	ENSP00000427018:Q19E;ENSP00000384892:Q19E	ENSP00000332184:Q19E	Q	+	1	0	RIMS2	104582345	0.771000	0.28555	0.984000	0.44739	0.841000	0.47740	2.800000	0.47900	1.863000	0.54032	0.561000	0.74099	CAG	RIMS2	-	NULL		0.647	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		C	NM_001100117		104513169	1	no_errors	ENST00000406091	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104513169	C	G	104513169	3	3	160	1	0	0	0	0	1	0	0	0	13398	827	29	1	57	1	RIMS2	8	104513169	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1781545	104513169	41850853	1039	29312										
LRP12	29967	genome.wustl.edu	37	chr8	105511574	105511574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgccagtctgaaaccctttCtagagatgttgtcatccgaa	8	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:105511574C>G	ENST00000276654.5	-	4	554	c.446G>C	c.(445-447)aGa>aCa	p.R149T	LRP12_ENST00000424843.2_Missense_Mutation_p.R130T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	149	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R149T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAACCCTTTCTAGAGATGTT	0.373																																																	1	Substitution - Missense(1)	endometrium(1)											126	129	128					8																	105511574		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.446G>C	8.37:g.105511574C>G	ENSP00000276654:p.Arg149Thr		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R130T	ENST00000276654.5	37	c.389	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283396	0.40394	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.18502	2.21;2.21	5.63	4.75	0.60458	CUB (5);	0.088279	0.85682	D	0.000000	T	0.22399	0.0540	M	0.62266	1.93	0.80722	D	1	P;P	0.37176	0.531;0.586	B;B	0.40165	0.215;0.321	T	0.01998	-1.1232	10	0.29301	T	0.29	-18.0907	14.1004	0.65051	0.0:0.9284:0.0:0.0716	.	130;149	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	130;149	ENSP00000399148:R130T;ENSP00000276654:R149T	ENSP00000276654:R149T	R	-	2	0	LRP12	105580750	0.727000	0.28069	0.542000	0.28115	0.969000	0.65631	3.455000	0.52993	1.378000	0.46305	0.557000	0.71058	AGA	LRP12	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.373	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	C	NM_013437		105511574	-1	no_errors	ENST00000424843	ensembl	human	known	70_37	missense	SNP	0.886	G	G	105511574	C	G	105511574	3	3	160	1	0	0	0	0	1	0	0	0	8977	913	32	1	2149	1	LRP12	8	105511574	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	998405	105511574	40852448	1040	29313										
LRP12	29967	genome.wustl.edu	37	chr8	105544149	105544149	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttaccagttgacactcctGaaatatgcacattttcagaa	5	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:105544149G>A	ENST00000276654.5	-	2	230	c.122C>T	c.(121-123)tCa>tTa	p.S41L	LRP12_ENST00000424843.2_Intron	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	41					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGACACTCCTGAAATATGCAC	0.284																																																	0													74	79	77					8																	105544149		2202	4295	6497	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.122C>T	8.37:g.105544149G>A	ENSP00000276654:p.Ser41Leu		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.S41L	ENST00000276654.5	37	c.122	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123563	0.77436	.	.	ENSG00000147650	ENST00000276654;ENST00000523830	D	0.84223	-1.82	5.65	5.65	0.86999	.	0.168439	0.41605	D	0.000847	D	0.85191	0.5640	N	0.14661	0.345	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	D	0.87133	0.2198	10	0.56958	D	0.05	-15.6049	17.9084	0.88926	0.0:0.0:1.0:0.0	.	41	Q9Y561	LRP12_HUMAN	L	41	ENSP00000276654:S41L	ENSP00000276654:S41L	S	-	2	0	LRP12	105613325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.069000	0.71209	2.681000	0.91329	0.563000	0.77884	TCA	LRP12	-	NULL		0.284	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	G	NM_013437		105544149	-1	no_errors	ENST00000276654	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	105544149	G	A	105544149	3	1	160	1	0	0	0	0	1	0	0	0	8977	1294	45	1	2481	1	LRP12	8	105544149	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32575	105544149	40819873	1041	29314										
RSPO2	340419	genome.wustl.edu	37	chr8	108913363	108913363	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctcctgggccctttctatCagcttccttttctttttctt	5	13	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:108913363C>T	ENST00000276659.5	-	6	1292	c.672G>A	c.(670-672)ctG>ctA	p.L224L	RSPO2_ENST00000378439.2_Silent_p.L160L|RSPO2_ENST00000517781.1_Silent_p.L160L|RSPO2_ENST00000517939.1_Silent_p.L157L	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	224					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCTTTCTATCAGcttccttt	0.423																																																	0													130	123	125					8																	108913363		2203	4300	6503	SO:0001819	synonymous_variant	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.672G>A	8.37:g.108913363C>T			B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L224	ENST00000276659.5	37	c.672	CCDS6307.1	8																																																																																			RSPO2	-	NULL		0.423	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	C	NM_178565		108913363	-1	no_errors	ENST00000276659	ensembl	human	known	70_37	silent	SNP	1.000	T	T	108913363	C	T	108913363	2	4	160	1	0	0	0	0	0	0	0	1	13740	813	29	1		1	RSPO2	8	108913363	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3369214	108913363	37450659	1042	29315										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110478968	110478968	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttctccagtatctctgcttGaaaaggatgtggttctttca	8	9	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110478968G>C	ENST00000378402.5	+	50	8679	c.8575G>C	c.(8575-8577)Gaa>Caa	p.E2859Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2859					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTCTGCTTGAAAAGGATGT	0.393										HNSCC(38;0.096)																																							0													132	120	123					8																	110478968		1897	4118	6015	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8575G>C	8.37:g.110478968G>C	ENSP00000367655:p.Glu2859Gln		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.E2859Q	ENST00000378402.5	37	c.8575	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628165	0.66901	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	6.16	6.16	0.99307	.	0.207483	0.40222	N	0.001145	D	0.83271	0.5218	L	0.36672	1.1	0.25321	N	0.989112	P	0.50617	0.937	P	0.48488	0.579	T	0.74203	-0.3741	10	0.16896	T	0.51	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	2859	Q86WI1	PKHL1_HUMAN	Q	2859	ENSP00000367655:E2859Q	ENSP00000367655:E2859Q	E	+	1	0	PKHD1L1	110548144	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.300000	0.72776	2.937000	0.99478	0.650000	0.86243	GAA	PKHD1L1	-	NULL		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110478968	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	C	C	110478968	G	C	110478968	3	2	160	1	0	0	0	0	1	0	0	0	11996	1291	45	1	8773	1	PKHD1L1	8	110478968	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1565605	110478968	35885054	1043	29316										
SYBU	55638	genome.wustl.edu	37	chr8	110587893	110587893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcttccagagataacccatCtgccattgtgtcaagagggg	10	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110587893C>T	ENST00000422135.1	-	8	1749	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	SYBU_ENST00000276646.9_Missense_Mutation_p.D412N|SYBU_ENST00000529175.1_Missense_Mutation_p.D206N|SYBU_ENST00000408908.2_Missense_Mutation_p.D412N|SYBU_ENST00000532779.1_Missense_Mutation_p.D344N|SYBU_ENST00000446070.2_Missense_Mutation_p.D411N|SYBU_ENST00000533171.1_Missense_Mutation_p.D412N|SYBU_ENST00000528647.1_Missense_Mutation_p.D411N|SYBU_ENST00000529690.1_Missense_Mutation_p.D282N|SYBU_ENST00000424158.2_Missense_Mutation_p.D417N|SYBU_ENST00000440310.1_Missense_Mutation_p.D412N|SYBU_ENST00000528331.1_Missense_Mutation_p.D293N|SYBU_ENST00000533065.1_Missense_Mutation_p.D293N|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000433638.1_Missense_Mutation_p.D412N|SYBU_ENST00000408889.3_Missense_Mutation_p.D293N|SYBU_ENST00000533895.1_Missense_Mutation_p.D411N|SYBU_ENST00000399066.3_Missense_Mutation_p.D409N|SYBU_ENST00000419099.1_Missense_Mutation_p.D411N	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	412	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GATAACCCATCTGCCATTGTG	0.532																																																	0													101	100	101					8																	110587893		1939	4145	6084	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1234G>A	8.37:g.110587893C>T	ENSP00000407118:p.Asp412Asn		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.D412N	ENST00000422135.1	37	c.1234	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016818	0.54576	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	5.01	0.66863	.	0.681414	0.16075	N	0.230791	T	0.50000	0.1590	L	0.59436	1.845	0.21184	N	0.999769	P;P;P;P;P	0.46142	0.873;0.787;0.76;0.787;0.675	P;B;P;B;B	0.50231	0.447;0.372;0.635;0.372;0.372	T	0.40346	-0.9568	9	0.35671	T	0.21	-11.0051	13.5497	0.61726	0.0:0.9257:0.0:0.0743	.	282;344;411;412;409	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	N	411;417;344;409;411;293;206;412;411;412;411;412;412;412;293;293;282;412	.	ENSP00000276646:D412N	D	-	1	0	SYBU	110657069	0.614000	0.27017	0.074000	0.20217	0.441000	0.31987	3.301000	0.51842	2.791000	0.96007	0.591000	0.81541	GAT	SYBU	-	NULL		0.532	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	C	NM_017786		110587893	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.412	T	T	110587893	C	T	110587893	3	4	160	1	0	0	0	0	1	0	0	0	15457	913	32	1	761	1	SYBU	8	110587893	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	108925	110587893	35776129	1044	29317										
SYBU	55638	genome.wustl.edu	37	chr8	110587935	110587935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttgagggttaagctcttctCtggggaatcacatggaaagt	13	6	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110587935C>T	ENST00000422135.1	-	8	1707	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	SYBU_ENST00000276646.9_Missense_Mutation_p.E398K|SYBU_ENST00000529175.1_Missense_Mutation_p.E192K|SYBU_ENST00000408908.2_Missense_Mutation_p.E398K|SYBU_ENST00000532779.1_Missense_Mutation_p.E330K|SYBU_ENST00000446070.2_Missense_Mutation_p.E397K|SYBU_ENST00000533171.1_Missense_Mutation_p.E398K|SYBU_ENST00000528647.1_Missense_Mutation_p.E397K|SYBU_ENST00000529690.1_Missense_Mutation_p.E268K|SYBU_ENST00000424158.2_Missense_Mutation_p.E403K|SYBU_ENST00000440310.1_Missense_Mutation_p.E398K|SYBU_ENST00000528331.1_Missense_Mutation_p.E279K|SYBU_ENST00000533065.1_Missense_Mutation_p.E279K|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000433638.1_Missense_Mutation_p.E398K|SYBU_ENST00000408889.3_Missense_Mutation_p.E279K|SYBU_ENST00000533895.1_Missense_Mutation_p.E397K|SYBU_ENST00000399066.3_Missense_Mutation_p.E395K|SYBU_ENST00000419099.1_Missense_Mutation_p.E397K	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	398	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAGCTCTTCTCTGGGGAATCA	0.542																																																	0													82	85	84					8																	110587935		1960	4149	6109	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1192G>A	8.37:g.110587935C>T	ENSP00000407118:p.Glu398Lys		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.E398K	ENST00000422135.1	37	c.1192	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	3.257	-0.152058	0.06585	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.73	3.0	0.34707	.	0.515665	0.22411	N	0.060410	T	0.39332	0.1074	L	0.52364	1.645	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.003;0.0;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.004;0.003;0.003	T	0.24225	-1.0166	9	0.30078	T	0.28	-4.224	10.2447	0.43334	0.0:0.7932:0.0:0.2068	.	268;330;397;398;395	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	K	397;403;330;395;397;279;192;398;397;398;397;398;398;398;279;279;268;398	.	ENSP00000276646:E398K	E	-	1	0	SYBU	110657111	0.022000	0.18835	0.001000	0.08648	0.144000	0.21451	2.682000	0.46934	0.371000	0.24564	-0.229000	0.12294	GAG	SYBU	-	NULL		0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	C	NM_017786		110587935	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.007	T	T	110587935	C	T	110587935	3	4	160	1	0	0	0	0	1	0	0	0	15457	922	32	1	803	1	SYBU	8	110587935	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	42	110587935	35776087	1045	29318										
SYBU	55638	genome.wustl.edu	37	chr8	110654959	110654959	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcccgagggtactgtacctGagcagaagctgttgctgcta	12	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:110654959G>C	ENST00000422135.1	-	3	742	c.227C>G	c.(226-228)tCa>tGa	p.S76*	SYBU_ENST00000276646.9_Nonsense_Mutation_p.S76*|SYBU_ENST00000408908.2_Nonsense_Mutation_p.S76*|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000446070.2_Nonsense_Mutation_p.S75*|SYBU_ENST00000533171.1_Nonsense_Mutation_p.S76*|SYBU_ENST00000528647.1_Nonsense_Mutation_p.S75*|SYBU_ENST00000424158.2_Nonsense_Mutation_p.S81*|RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000440310.1_Nonsense_Mutation_p.S76*|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000433638.1_Nonsense_Mutation_p.S76*|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000533895.1_Nonsense_Mutation_p.S75*|SYBU_ENST00000399066.3_Nonsense_Mutation_p.S73*|SYBU_ENST00000419099.1_Nonsense_Mutation_p.S75*	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	76	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TACTGTACCTGAGCAGAAGCT	0.577																																																	0													50	53	52					8																	110654959		1996	4157	6153	SO:0001587	stop_gained	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.227C>G	8.37:g.110654959G>C	ENSP00000407118:p.Ser76*		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Nonsense_Mutation	SNP	NULL	p.S76*	ENST00000422135.1	37	c.227	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.192826	0.98699	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184;ENST00000528716;ENST00000526302;ENST00000534578	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9885	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	75;81;73;75;76;75;76;75;76;76;76;76;75;75;76;76;75;76;76;76	.	ENSP00000276646:S76X	S	-	2	0	SYBU	110724135	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.266000	0.89871	2.941000	0.99782	0.655000	0.94253	TCA	SYBU	-	NULL		0.577	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	G	NM_017786		110654959	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	110654959	G	C	110654959	4	2	160	1	0	0	0	0	0	1	0	0	15457	1294	45	1	1788	1	SYBU	8	110654959	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	67024	110654959	35709063	1046	29319										
CSMD3	114788	genome.wustl.edu	37	chr8	113349922	113349922	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaattacaaaaccatttcGaaacgggcgtggatcaggac	9	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:113349922G>T	ENST00000297405.5	-	43	6935	c.6691C>A	c.(6691-6693)Cga>Aga	p.R2231R	CSMD3_ENST00000455883.2_Silent_p.R2127R|CSMD3_ENST00000352409.3_Silent_p.R2161R|CSMD3_ENST00000343508.3_Silent_p.R2191R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2231*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACCATTTCGAAACGGGCGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Nonsense(1)	large_intestine(1)											92	94	93					8																	113349922		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6691C>A	8.37:g.113349922G>T			Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2231	ENST00000297405.5	37	c.6691	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113349922	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113349922	G	T	113349922	2	4	160	1	0	0	0	0	0	0	0	1	3951	1066	37	3		3	CSMD3	8	113349922	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2694963	113349922	33014100	1047	29320										
RAD21	5885	genome.wustl.edu	37	chr8	117878870	117878870	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgctctctaaattacactcGaacacatgggctttggttag	8	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:117878870G>A	ENST00000297338.2	-	2	386	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	33					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTACACTCGAACACATGGG	0.403																																																	0													85	76	79					8																	117878870		2203	4300	6503	SO:0001819	synonymous_variant	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.99C>T	8.37:g.117878870G>A			A8K0E0|Q15001|Q99568	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.F33	ENST00000297338.2	37	c.99	CCDS6321.1	8																																																																																			RAD21	-	pfam_Rad21_Rec8_N		0.403	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	G	NM_006265		117878870	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	silent	SNP	0.996	A	A	117878870	G	A	117878870	2	1	160	1	0	0	0	0	0	0	0	1	13011	1049	37	1		1	RAD21	8	117878870	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4528948	117878870	28485152	1048	29321										
MED30	90390	genome.wustl.edu	37	chr8	118533247	118533247	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggagacagtgcaggacatCgtgtaccgcaccatggagat	13	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:118533247C>G	ENST00000297347.3	+	1	296	c.132C>G	c.(130-132)atC>atG	p.I44M	MED30_ENST00000522839.1_Missense_Mutation_p.I44M	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	44					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			TGCAGGACATCGTGTACCGCA	0.692																																					Melanoma(81;817 1341 9674 26244 29255)												0													38	35	36					8																	118533247		2203	4300	6503	SO:0001583	missense	90390			AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"thyroid hormone receptor associated protein 6"	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.132C>G	8.37:g.118533247C>G	ENSP00000297347:p.Ile44Met		C6GKU9	Missense_Mutation	SNP	pfam_Mediator_Med30_met	p.I44M	ENST00000297347.3	37	c.132	CCDS6323.1	8	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877714	0.72294	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.52	3.71	0.42584	Mediator complex, subunit Med30, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.74023	0.951;0.982	T	0.74429	-0.3668	9	0.72032	D	0.01	-1.6732	9.6026	0.39615	0.0:0.7748:0.0:0.2252	.	44;44	C6GKU9;Q96HR3	.;MED30_HUMAN	M	44	.	ENSP00000297347:I44M	I	+	3	3	MED30	118602428	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	0.270000	0.18607	1.574000	0.49760	-0.244000	0.11960	ATC	MED30	-	pfam_Mediator_Med30_met		0.692	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED30	HGNC	protein_coding	OTTHUMT00000380923.1	C	NM_080651		118533247	1	no_errors	ENST00000297347	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118533247	C	G	118533247	3	3	160	1	0	0	0	0	1	0	0	0	9471	874	31	1	134	1	MED30	8	118533247	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	654377	118533247	27830775	1049	29322										
SAMD12	401474	genome.wustl.edu	37	chr8	119391817	119391817	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accttgtgtgagtaactgtaGatttctgacttcttctcgca	8	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:119391817G>C	ENST00000314727.4	-	4	581	c.445C>G	c.(445-447)Cta>Gta	p.L149V	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Missense_Mutation_p.L149V|SAMD12_ENST00000527515.1_5'UTR	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	149										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGTAACTGTAGATTTCTGACT	0.493																																																	0													163	145	151					8																	119391817		2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.445C>G	8.37:g.119391817G>C	ENSP00000314173:p.Leu149Val		Q0P502	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L149V	ENST00000314727.4	37	c.445	CCDS6325.1	8	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	32|32|32	5.106934|5.106934|5.106934	0.94292|0.94292|0.94292	.|.|.	.|.|.	ENSG00000177570|ENSG00000177570|ENSG00000177570	ENST00000526765|ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000453675	.|.|.	.|.|.	.|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000001|.	T|T|T	0.59280|0.59280|0.59280	0.2182|0.2182|0.2182	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.54753|0.54753|0.54753	D|D|D	0.999989|0.999989|0.999989	.|D;D|.	.|0.76494|.	.|0.993;0.999|.	.|D;D|.	.|0.78314|.	.|0.952;0.991|.	T|T|T	0.49173|0.49173|0.49173	-0.8967|-0.8967|-0.8967	5|8|5	.|.|.	.|.|.	.|.|.	-9.6047|-9.6047|-9.6047	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|149;149|.	.|B8ZZB7;Q8N8I0|.	.|.;SAM12_HUMAN|.	M|V|C	163|149;141;149;149|135	.|.|.	.|.|.	I|L|S	-|-|-	3|1|2	3|2|0	SAMD12|SAMD12|SAMD12	119460998|119460998|119460998	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.847000|0.847000|0.847000	0.48162|0.48162|0.48162	7.649000|7.649000|7.649000	0.83500|0.83500|0.83500	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CTA|TCT	SAMD12	-	NULL		0.493	SAMD12-001	KNOWN	basic|CCDS	protein_coding	SAMD12	HGNC	protein_coding	OTTHUMT00000132989.3	G	NM_207506		119391817	-1	no_errors	ENST00000314727	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119391817	G	C	119391817	3	2	160	1	0	0	0	0	1	0	0	0	13847	933	33	1	191	1	SAMD12	8	119391817	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	858570	119391817	26972205	1050	29323										
ENPP2	5168	genome.wustl.edu	37	chr8	120596225	120596225	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgctgttgaccttgttatCaaatccgtggtctccctgga	9	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:120596225C>G	ENST00000075322.6	-	16	1490	c.1432G>C	c.(1432-1434)Gat>Cat	p.D478H	ENPP2_ENST00000522826.1_Missense_Mutation_p.D478H|ENPP2_ENST00000427067.2_Missense_Mutation_p.D474H|ENPP2_ENST00000259486.6_Missense_Mutation_p.D530H|ENPP2_ENST00000522167.1_Missense_Mutation_p.D117H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	478					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACCTTGTTATCAAATCCGTGG	0.363																																					Melanoma(20;305 879 2501 4818 31020)												0													234	230	231					8																	120596225		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1432G>C	8.37:g.120596225C>G	ENSP00000075322:p.Asp478His		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.D530H	ENST00000075322.6	37	c.1588	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985767	0.93044	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.74	5.74	0.90152	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91365	0.5115	10	0.87932	D	0	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	478;478;530;117	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	H	530;474;117;478;478	ENSP00000259486:D530H;ENSP00000403315:D474H;ENSP00000429476:D117H;ENSP00000428291:D478H;ENSP00000075322:D478H	ENSP00000075322:D478H	D	-	1	0	ENPP2	120665406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.683000	0.91414	0.655000	0.94253	GAT	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120596225	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120596225	C	G	120596225	3	3	160	1	0	0	0	0	1	0	0	0	5142	826	29	1	1278	1	ENPP2	8	120596225	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1204408	120596225	25767797	1051	29324										
ENPP2	5168	genome.wustl.edu	37	chr8	120628552	120628552	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaatttctctcgccctcgcaGatgaaaagtggcatcaaata	7	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:120628552G>A	ENST00000075322.6	-	8	788	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	ENPP2_ENST00000522826.1_Silent_p.L244L|ENPP2_ENST00000427067.2_Silent_p.L240L|ENPP2_ENST00000259486.6_Silent_p.L244L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	244	Substrate binding. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGCCCTCGCAGATGAAAAGTG	0.368																																					Melanoma(20;305 879 2501 4818 31020)												0													124	111	115					8																	120628552		2203	4300	6503	SO:0001819	synonymous_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.730C>T	8.37:g.120628552G>A			A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L244	ENST00000075322.6	37	c.730	CCDS34936.1	8																																																																																			ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.368	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	G			120628552	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	silent	SNP	1.000	A	A	120628552	G	A	120628552	2	1	160	1	0	0	0	0	0	0	0	1	5142	933	33	1		1	ENPP2	8	120628552	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32327	120628552	25735470	1052	29325										
COL14A1	7373	genome.wustl.edu	37	chr8	121301998	121301998	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaggaccaggtggaaactCtgcaccggtaagtgaataaa	12	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:121301998C>G	ENST00000297848.3	+	34	4499	c.4229C>G	c.(4228-4230)tCt>tGt	p.S1410C	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1315C|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1410C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTGGAAACTCTGCACCGGTA	0.418																																																	0													125	113	117					8																	121301998		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4229C>G	8.37:g.121301998C>G	ENSP00000297848:p.Ser1410Cys			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S1410C	ENST00000297848.3	37	c.4229	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281962	0.59867	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02525	4.26;4.26;4.26	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00036	-1.2256	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1410	Q05707	COEA1_HUMAN	C	1410;1410;1315	ENSP00000311809:S1410C;ENSP00000297848:S1410C;ENSP00000247781:S1315C	ENSP00000247781:S1315C	S	+	2	0	COL14A1	121371179	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	7.213000	0.77950	2.894000	0.99253	0.591000	0.81541	TCT	COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	C	NM_021110		121301998	1	no_errors	ENST00000297848	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121301998	C	G	121301998	3	3	160	1	0	0	0	0	1	0	0	0	3676	913	32	1	4359	1	COL14A1	8	121301998	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	673446	121301998	25062024	1053	29326										
SNTB1	6641	genome.wustl.edu	37	chr8	121644796	121644796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagcaggtcattaacgttgGaatggatggcactgaaccat	11	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:121644796G>C	ENST00000395601.3	-	4	1298	c.884C>G	c.(883-885)tCc>tGc	p.S295C	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.S295C	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	295	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTAACGTTGGAATGGATGGC	0.547																																																	0													123	105	111					8																	121644796		2203	4300	6503	SO:0001583	missense	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.884C>G	8.37:g.121644796G>C	ENSP00000378965:p.Ser295Cys		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S295C	ENST00000395601.3	37	c.884	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526445	0.85600	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58060	0.36;0.36	6.03	4.18	0.49190	Pleckstrin homology domain (2);	0.382683	0.33040	N	0.005360	T	0.61739	0.2371	L	0.58810	1.83	0.80722	D	1	D;B	0.53462	0.96;0.003	P;B	0.51999	0.687;0.006	T	0.68484	-0.5396	10	0.72032	D	0.01	.	17.0434	0.86495	0.0:0.2385:0.7615:0.0	.	295;295	Q13884;Q13884-2	SNTB1_HUMAN;.	C	295	ENSP00000378965:S295C;ENSP00000431124:S295C	ENSP00000378965:S295C	S	-	2	0	SNTB1	121713977	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	6.241000	0.72369	1.561000	0.49584	0.555000	0.69702	TCC	SNTB1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.547	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	G	NM_021021		121644796	-1	no_errors	ENST00000395601	ensembl	human	known	70_37	missense	SNP	0.999	C	C	121644796	G	C	121644796	3	2	160	1	0	0	0	0	1	0	0	0	14902	1174	41	1	752	1	SNTB1	8	121644796	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	342798	121644796	24719226	1054	29327										
MYC	4609	genome.wustl.edu	37	chr8	128752825	128752825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caactacgcagcgcctccctCcactcggaaggactatcctg	8	17	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:128752825C>T	ENST00000377970.2	+	3	1496	c.986C>T	c.(985-987)tCc>tTc	p.S329F	MYC_ENST00000524013.1_Missense_Mutation_p.S328F	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	314					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GCGCCTCCCTCCACTCGGAAG	0.577		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																			Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0													82	63	70					8																	128752825		2203	4300	6503	SO:0001583	missense	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.986C>T	8.37:g.128752825C>T	ENSP00000367207:p.Ser329Phe		A8WFE7|P01107|Q14026	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc	p.S329F	ENST00000377970.2	37	c.986	CCDS6359.2	8	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356729	0.61293	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.20881	2.04;2.04	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.141208	0.49305	D	0.000157	T	0.43322	0.1242	L	0.52126	1.63	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.26780	-1.0093	10	0.72032	D	0.01	-21.2578	18.133	0.89608	0.0:1.0:0.0:0.0	.	314	P01106	MYC_HUMAN	F	329;328;295	ENSP00000367207:S329F;ENSP00000430235:S328F	ENSP00000367207:S329F	S	+	2	0	MYC	128822007	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.699000	0.61796	2.519000	0.84933	0.650000	0.86243	TCC	MYC	-	pfam_Tscrpt_reg_Myc_N		0.577	MYC-001	KNOWN	basic|CCDS	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250277.3	C			128752825	1	no_errors	ENST00000377970	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128752825	C	T	128752825	3	4	160	1	0	0	0	0	1	0	0	0	10039	855	30	1	996	1	MYC	8	128752825	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7108029	128752825	17611197	1055	29328										
FAM49B	51571	genome.wustl.edu	37	chr8	130864412	130864412	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctaggcaatgcttacctctGatacaaattttgttgtggca	8	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:130864412G>A	ENST00000519824.2	-	8	902	c.629C>T	c.(628-630)tCa>tTa	p.S210L	FAM49B_ENST00000523509.1_Missense_Mutation_p.S210L|FAM49B_ENST00000517654.1_Missense_Mutation_p.S210L|FAM49B_ENST00000522941.1_Missense_Mutation_p.S64L|FAM49B_ENST00000519540.1_Missense_Mutation_p.S210L|FAM49B_ENST00000519110.1_Missense_Mutation_p.S210L|FAM49B_ENST00000401979.2_Missense_Mutation_p.S210L|FAM49B_ENST00000522250.1_Missense_Mutation_p.S64L|FAM49B_ENST00000522746.1_Missense_Mutation_p.S210L	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	210						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCTTACCTCTGATACAAATTT	0.398																																																	0													146	121	129					8																	130864412		2203	4300	6503	SO:0001583	missense	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.629C>T	8.37:g.130864412G>A	ENSP00000429150:p.Ser210Leu		Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	pfam_DUF1394	p.S210L	ENST00000519824.2	37	c.629	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870766	0.72065	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.98	5.98	0.97165	.	0.060484	0.64402	D	0.000002	T	0.54224	0.1845	M	0.66506	2.035	0.80722	D	1	B	0.29612	0.251	B	0.35312	0.2	T	0.50197	-0.8856	10	0.42905	T	0.14	-18.3599	19.4463	0.94849	0.0:0.0:1.0:0.0	.	210	Q9NUQ9	FA49B_HUMAN	L	210;210;210;210;64;210;210;210;64;164	ENSP00000428117:S210L;ENSP00000429802:S210L;ENSP00000384880:S210L;ENSP00000429078:S210L;ENSP00000429978:S64L;ENSP00000429150:S210L;ENSP00000430674:S210L;ENSP00000429499:S210L;ENSP00000430433:S64L	ENSP00000311651:S164L	S	-	2	0	FAM49B	130933594	1.000000	0.71417	0.984000	0.44739	0.725000	0.41563	7.863000	0.87023	2.835000	0.97688	0.650000	0.86243	TCA	FAM49B	-	pfam_DUF1394		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	G	NM_016623		130864412	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	missense	SNP	0.996	A	A	130864412	G	A	130864412	3	1	160	1	0	0	0	0	1	0	0	0	5594	1294	45	1	365	1	FAM49B	8	130864412	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2111587	130864412	15499610	1056	29329										
FAM49B	51571	genome.wustl.edu	37	chr8	130891638	130891638	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaaatcatcttctcactttCaaaatcaaggaaaaaatttg	3	7	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:130891638C>T	ENST00000519824.2	-	3	343	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	FAM49B_ENST00000523509.1_Missense_Mutation_p.E24K|FAM49B_ENST00000517654.1_Missense_Mutation_p.E24K|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000519540.1_Missense_Mutation_p.E24K|FAM49B_ENST00000519110.1_Missense_Mutation_p.E24K|FAM49B_ENST00000401979.2_Missense_Mutation_p.E24K|FAM49B_ENST00000522250.1_Intron|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000522746.1_Missense_Mutation_p.E24K	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	24						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTCTCACTTTCAAAATCAAGG	0.373																																																	0													71	72	72					8																	130891638		2203	4300	6503	SO:0001583	missense	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.70G>A	8.37:g.130891638C>T	ENSP00000429150:p.Glu24Lys		Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	pfam_DUF1394	p.E24K	ENST00000519824.2	37	c.70	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026117	0.75390	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672;ENST00000519070;ENST00000522361	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.89095	3.005	0.80722	D	1	P	0.35944	0.529	B	0.44163	0.443	T	0.71991	-0.4425	10	0.51188	T	0.08	.	19.0666	0.93114	0.0:1.0:0.0:0.0	.	24	Q9NUQ9	FA49B_HUMAN	K	24	ENSP00000428117:E24K;ENSP00000429802:E24K;ENSP00000384880:E24K;ENSP00000429078:E24K;ENSP00000429150:E24K;ENSP00000430674:E24K;ENSP00000429499:E24K;ENSP00000430806:E24K;ENSP00000429051:E24K;ENSP00000430694:E24K;ENSP00000429074:E24K;ENSP00000430127:E24K;ENSP00000429659:E24K;ENSP00000427994:E24K;ENSP00000430434:E24K;ENSP00000429860:E24K;ENSP00000430412:E24K	ENSP00000384880:E24K	E	-	1	0	FAM49B	130960820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	2.736000	0.93811	0.655000	0.94253	GAA	FAM49B	-	pfam_DUF1394		0.373	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	C	NM_016623		130891638	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130891638	C	T	130891638	3	4	160	1	0	0	0	0	1	0	0	0	5594	835	29	1	944	1	FAM49B	8	130891638	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	27226	130891638	15472384	1057	29330										
ADCY8	114	genome.wustl.edu	37	chr8	131880181	131880181	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacttgaacacttcatccctCatttgagaatactgtaatta	5	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:131880181C>G	ENST00000286355.5	-	9	4213	c.2121G>C	c.(2119-2121)atG>atC	p.M707I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	707					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTCATCCCTCATTTGAGAAT	0.358										HNSCC(32;0.087)																																							0													79	73	75					8																	131880181		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2121G>C	8.37:g.131880181C>G	ENSP00000286355:p.Met707Ile			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.M707I	ENST00000286355.5	37	c.2121	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686848	0.68157	.	.	ENSG00000155897	ENST00000286355	T	0.42900	0.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.39898	1.24	0.80722	D	1	P	0.39624	0.681	B	0.43950	0.437	T	0.07790	-1.0754	10	0.25106	T	0.35	.	17.776	0.88508	0.0:1.0:0.0:0.0	.	707	P40145	ADCY8_HUMAN	I	707	ENSP00000286355:M707I	ENSP00000286355:M707I	M	-	3	0	ADCY8	131949363	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.407000	0.66363	2.806000	0.96561	0.655000	0.94253	ATG	ADCY8	-	pfam_Adenylate_cyclase-like		0.358	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131880181	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131880181	C	G	131880181	3	3	160	1	0	0	0	0	1	0	0	0	300	826	29	1	1674	1	ADCY8	8	131880181	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	988543	131880181	14483841	1058	29331										
OC90	729330	genome.wustl.edu	37	chr8	133051046	133051046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaggccttacctctgggcaGaagtgttgtcaagtcttcct	12	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:133051046G>C	ENST00000443356.2	-	8	705	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	OC90_ENST00000262283.5_Missense_Mutation_p.L403V|OC90_ENST00000603859.1_Missense_Mutation_p.L207V|OC90_ENST00000254627.3_Missense_Mutation_p.L207V			Q02509	OC90_HUMAN	otoconin 90	207					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCTCTGGGCAGAAGTGTTGTC	0.537																																																	0													83	88	86					8																	133051046		1914	4122	6036	SO:0001583	missense	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.619C>G	8.37:g.133051046G>C	ENSP00000390050:p.Leu207Val		B4DNG8	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.L207V	ENST00000443356.2	37	c.619		8	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020732	0.35606	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.31510	1.5;1.51;1.49	3.78	1.85	0.25348	.	0.929503	0.08885	N	0.879491	T	0.14527	0.0351	L	0.29908	0.895	0.09310	N	1	B;P	0.40578	0.27;0.722	B;B	0.30495	0.116;0.114	T	0.07195	-1.0785	10	0.02654	T	1	-0.1157	6.5698	0.22533	0.1041:0.1815:0.7144:0.0	.	207;207	Q02509-2;Q02509	.;OC90_HUMAN	V	207;207;403	ENSP00000254627:L207V;ENSP00000390050:L207V;ENSP00000262283:L403V	ENSP00000254627:L207V	L	-	1	2	RP11-240B13.2;OC90	133120228	0.001000	0.12720	0.095000	0.20976	0.352000	0.29268	0.819000	0.27308	0.338000	0.23692	0.561000	0.74099	CTG	OC90	-	NULL		0.537	OC90-201	KNOWN	basic	protein_coding	OC90	HGNC	protein_coding		G	NM_001080399		133051046	-1	no_errors	ENST00000443356	ensembl	human	known	70_37	missense	SNP	0.002	C	C	133051046	G	C	133051046	3	2	160	1	0	0	0	0	1	0	0	0	10838	933	33	1	842	1	OC90	8	133051046	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1170865	133051046	13312976	1059	29332										
KCNQ3	3786	genome.wustl.edu	37	chr8	133492601	133492601	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtcccgtctttgtcggctCcggccccgagcgccaaggtg	15	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:133492601C>G	ENST00000388996.4	-	1	599	c.179G>C	c.(178-180)gGa>gCa	p.G60A	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G60A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	60					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTTGTCGGCTCCGGCCCCGAG	0.761																																																	0													10	12	11					8																	133492601		2177	4208	6385	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.179G>C	8.37:g.133492601C>G	ENSP00000373648:p.Gly60Ala		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G60A	ENST00000388996.4	37	c.179	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942739	0.18281	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.98777	-5.11;-5.13	4.1	3.21	0.36854	.	0.000000	0.47852	D	0.000207	D	0.95043	0.8395	L	0.27053	0.805	0.39395	D	0.966486	P;P	0.42908	0.793;0.793	B;B	0.38842	0.283;0.283	D	0.93389	0.6750	10	0.13108	T	0.6	-5.3909	11.8152	0.52207	0.1772:0.8228:0.0:0.0	.	60;60	E7ET42;O43525	.;KCNQ3_HUMAN	A	60;60;49	ENSP00000373648:G60A;ENSP00000428790:G60A	ENSP00000373648:G60A	G	-	2	0	KCNQ3	133561783	0.999000	0.42202	0.558000	0.28319	0.067000	0.16453	4.164000	0.58190	0.911000	0.36747	-0.321000	0.08615	GGA	KCNQ3	-	NULL		0.761	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	C	NM_004519		133492601	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	missense	SNP	0.990	G	G	133492601	C	G	133492601	3	3	160	1	0	0	0	0	1	0	0	0	8104	855	30	1	2499	1	KCNQ3	8	133492601	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	441555	133492601	12871421	1060	29333										
PHF20L1	51105	genome.wustl.edu	37	chr8	133858144	133858144	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacatgggcaaagtacagcaGatagcaactctttgctctgt	10	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:133858144G>A	ENST00000395386.2	+	21	3329	c.3030G>A	c.(3028-3030)caG>caA	p.Q1010Q	PHF20L1_ENST00000395390.2_Silent_p.Q985Q|PHF20L1_ENST00000220847.7_Silent_p.Q397Q|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1010							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGTACAGCAGATAGCAACTC	0.423																																																	0													86	78	80					8																	133858144		1907	4126	6033	SO:0001819	synonymous_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.3030G>A	8.37:g.133858144G>A			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.Q397	ENST00000395386.2	37	c.1191	CCDS6367.2	8																																																																																			PHF20L1	-	NULL		0.423	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133858144	1	no_errors	ENST00000220847	ensembl	human	known	70_37	silent	SNP	0.965	A	A	133858144	G	A	133858144	2	1	160	1	0	0	0	0	0	0	0	1	11856	933	33	1		1	PHF20L1	8	133858144	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	365543	133858144	12505878	1061	29334										
ZFAT	57623	genome.wustl.edu	37	chr8	135600571	135600571	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatgggcatttcatggctctCtttccaattagccctttcag	7	11	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:135600571C>G	ENST00000377838.3	-	9	2805	c.2631G>C	c.(2629-2631)aaG>aaC	p.K877N	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.K865N|ZFAT_ENST00000429442.2_Missense_Mutation_p.K865N|ZFAT_ENST00000523399.1_Missense_Mutation_p.K815N|ZFAT_ENST00000520356.1_Missense_Mutation_p.K865N|ZFAT_ENST00000520727.1_Missense_Mutation_p.K865N	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	877					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCATGGCTCTCTTTCCAATTA	0.448																																																	0													67	62	64					8																	135600571		1888	4108	5996	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2631G>C	8.37:g.135600571C>G	ENSP00000367069:p.Lys877Asn		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K877N	ENST00000377838.3	37	c.2631	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046797	0.75846	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.71	4.83	0.62350	.	0.056921	0.64402	D	0.000002	T	0.22399	0.0540	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.69307	0.905;0.937;0.963	T	0.01420	-1.1359	10	0.72032	D	0.01	-35.7241	6.1853	0.20493	0.0:0.7668:0.0:0.2332	.	815;865;877	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	N	865;865;865;877;865;764;815	ENSP00000427879:K865N;ENSP00000427831:K865N;ENSP00000394501:K865N;ENSP00000367069:K877N;ENSP00000428483:K865N;ENSP00000429091:K815N	ENSP00000326997:K764N	K	-	3	2	ZFAT	135669753	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.718000	0.25866	2.685000	0.91497	0.563000	0.77884	AAG	ZFAT	-	NULL		0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135600571	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135600571	C	G	135600571	3	3	160	1	0	0	0	0	1	0	0	0	17662	912	32	1	1132	1	ZFAT	8	135600571	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1742427	135600571	10763451	1062	29335										
ZFAT	57623	genome.wustl.edu	37	chr8	135649857	135649857	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggagccagcgggctgtcctCagtcggactcacgatgtttt	13	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:135649857C>T	ENST00000377838.3	-	3	469	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ZFAT_ENST00000520214.1_Missense_Mutation_p.E87K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E87K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E99K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E87K|ZFAT_ENST00000520727.1_Missense_Mutation_p.E87K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	99					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGCTGTCCTCAGTCGGACTC	0.577																																																	0													93	98	96					8																	135649857		2173	4271	6444	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.295G>A	8.37:g.135649857C>T	ENSP00000367069:p.Glu99Lys		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E99K	ENST00000377838.3	37	c.295	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630353	0.14322	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.47177	2.99;2.92;2.93;2.92;2.92;2.95;0.85;1.42	5.15	5.15	0.70609	.	0.332317	0.27060	N	0.021139	T	0.32041	0.0816	L	0.29908	0.895	0.18873	N	0.999986	B;B;B;B	0.32245	0.003;0.361;0.017;0.003	B;B;B;B	0.27608	0.002;0.081;0.012;0.002	T	0.14420	-1.0473	10	0.13108	T	0.6	-26.654	13.0183	0.58771	0.0:0.9196:0.0:0.0804	.	99;87;87;99	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	87;87;87;99;87;87;99;87;37;87	ENSP00000427879:E87K;ENSP00000427831:E87K;ENSP00000394501:E87K;ENSP00000367069:E99K;ENSP00000428483:E87K;ENSP00000429091:E99K;ENSP00000429983:E37K;ENSP00000428192:E87K	ENSP00000326997:E87K	E	-	1	0	ZFAT	135719039	0.032000	0.19561	0.075000	0.20258	0.014000	0.08584	2.045000	0.41250	2.402000	0.81655	0.561000	0.74099	GAG	ZFAT	-	NULL		0.577	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135649857	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	0.127	T	T	135649857	C	T	135649857	3	4	160	1	0	0	0	0	1	0	0	0	17662	835	29	1	3492	1	ZFAT	8	135649857	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	49286	135649857	10714165	1063	29336										
DENND3	22898	genome.wustl.edu	37	chr8	142200469	142200469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagccgcttccagctgccgcGaggtggcctgacgtccatca	12	16	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:142200469G>A	ENST00000262585.2	+	20	3370	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	DENND3_ENST00000523308.1_Missense_Mutation_p.R81Q|DENND3_ENST00000519811.1_Missense_Mutation_p.R1111Q|DENND3_ENST00000424248.1_Missense_Mutation_p.R979Q	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1031					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGCCGCGAGGTGGCCTG	0.642																																																	0													51	47	48					8																	142200469		2203	4300	6503	SO:0001583	missense	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3092G>A	8.37:g.142200469G>A	ENSP00000262585:p.Arg1031Gln		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.R1031Q	ENST00000262585.2	37	c.3092	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581554	0.28180	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	T;T;T;T	0.35605	1.61;1.61;1.61;1.3	5.31	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.631472	0.19019	N	0.124864	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B;P;B	0.44690	0.014;0.841;0.014	B;B;B	0.36186	0.001;0.219;0.0	T	0.04115	-1.0976	10	0.35671	T	0.21	-27.0546	13.0421	0.58906	0.0791:0.0:0.9209:0.0	.	1111;81;1031	E9PF32;A2RUS2-3;A2RUS2	.;.;DEND3_HUMAN	Q	1031;979;1111;81	ENSP00000262585:R1031Q;ENSP00000410594:R979Q;ENSP00000428714:R1111Q;ENSP00000430912:R81Q	ENSP00000262585:R1031Q	R	+	2	0	DENND3	142269651	0.921000	0.31238	0.002000	0.10522	0.002000	0.02628	5.431000	0.66507	1.203000	0.43233	0.313000	0.20887	CGA	DENND3	-	superfamily_WD40_repeat_dom		0.642	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		G	NM_014957		142200469	1	no_errors	ENST00000262585	ensembl	human	known	70_37	missense	SNP	0.153	A	A	142200469	G	A	142200469	3	1	160	1	0	0	0	0	1	0	0	0	4442	1058	37	1	3166	1	DENND3	8	142200469	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6550612	142200469	4163553	1064	29337										
ZFP41	286128	genome.wustl.edu	37	chr8	144332331	144332331	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acagaccacattcgccatcaGagggtccacactggagagaa	10	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144332331G>C	ENST00000330701.4	+	2	687	c.318G>C	c.(316-318)caG>caC	p.Q106H	ZFP41_ENST00000520584.1_Missense_Mutation_p.Q106H|ZFP41_ENST00000522452.1_Missense_Mutation_p.Q106H	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	106					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TTCGCCATCAGAGGGTCCACA	0.557																																																	0													87	86	86					8																	144332331		2203	4300	6503	SO:0001583	missense	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.318G>C	8.37:g.144332331G>C	ENSP00000327427:p.Gln106His		D3DWJ5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q106H	ENST00000330701.4	37	c.318	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263752	0.39995	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.42513	0.97;0.97;0.97	3.56	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27765	0.0683	L	0.43757	1.38	0.28932	N	0.89152	P	0.35551	0.509	B	0.25884	0.064	T	0.21348	-1.0248	9	0.49607	T	0.09	-25.2751	5.1388	0.14948	0.1219:0.2135:0.6646:0.0	.	106	Q8N8Y5	ZFP41_HUMAN	H	106	ENSP00000430465:Q106H;ENSP00000327427:Q106H;ENSP00000428966:Q106H	ENSP00000327427:Q106H	Q	+	3	2	ZFP41	144403706	0.623000	0.27094	0.147000	0.22382	0.724000	0.41520	2.959000	0.49153	1.828000	0.53243	0.467000	0.42956	CAG	ZFP41	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	HGNC	protein_coding	OTTHUMT00000381114.2	G	NM_173832		144332331	1	no_errors	ENST00000330701	ensembl	human	known	70_37	missense	SNP	0.940	C	C	144332331	G	C	144332331	3	2	160	1	0	0	0	0	1	0	0	0	17679	933	33	1	320	1	ZFP41	8	144332331	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2131862	144332331	2031691	1065	29338										
NAPRT1	642475	genome.wustl.edu	37	chr8	144657483	144657483	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcctgtggcactggctcttCtgctaactgcagcatgtcca	10	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144657483C>G	ENST00000398882.3	-	0	0				NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000435154.3_Missense_Mutation_p.E442Q|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000449291.2_Missense_Mutation_p.E442Q|NAPRT1_ENST00000426292.3_Missense_Mutation_p.E442Q|NAPRT1_ENST00000276844.7_Missense_Mutation_p.E442Q	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		ACTGGCTCTTCTGCTAACTGC	0.652																																																	0													51	53	52					8																	144657483		2203	4300	6503	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657483C>G	Exception_encountered		A8MWB1	Missense_Mutation	SNP	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put	p.E442Q	ENST00000398882.3	37	c.1324	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568940	0.28003	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.47528	0.86;0.87;0.84;0.86;0.86	4.67	4.67	0.58626	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.404849	0.27768	N	0.017927	T	0.47432	0.1445	L	0.38175	1.15	0.26519	N	0.974459	P;P;P;P	0.47910	0.842;0.886;0.902;0.842	B;P;P;B	0.51895	0.236;0.683;0.498;0.236	T	0.40813	-0.9543	10	0.52906	T	0.07	-15.7903	10.5355	0.45002	0.0:0.9076:0.0:0.0924	.	442;442;442;442	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	Q	442	ENSP00000405670:E442Q;ENSP00000401508:E442Q;ENSP00000341136:E442Q;ENSP00000390949:E442Q;ENSP00000276844:E442Q	ENSP00000276844:E442Q	E	-	1	0	NAPRT1	144728626	0.001000	0.12720	0.996000	0.52242	0.067000	0.16453	0.817000	0.27281	2.431000	0.82371	0.650000	0.86243	GAA	NAPRT1	-	superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put		0.652	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382330.3	C	NM_001100878		144657483	-1	no_errors	ENST00000276844	ensembl	human	known	70_37	missense	SNP	0.994	G	G	144657483	C	G	144657483	1	3	160	0	1	0	0	0	0	0	0	0	10188	922	32	1		1	NAPRT1	8	144657483	5'Flank	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	325152	144657483	1706539	1066	29339										
TIGD5	84948	genome.wustl.edu	37	chr8	144681231	144681231	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggtgcaggccggagcccctCggtcccccggaggagctgca	16	16	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144681231C>T	ENST00000504548.2	+	1	1158	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Silent_p.L337L|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	386						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGAGCCCCTCGGTCCCCCGG	0.721																																																	0													7	10	9					8																	144681231		2136	4232	6368	SO:0001819	synonymous_variant	84948			AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1158C>T	8.37:g.144681231C>T			E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L386	ENST00000504548.2	37	c.1158	CCDS6406.2	8																																																																																			TIGD5	-	NULL		0.721	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD5	HGNC	protein_coding	OTTHUMT00000368269.1	C	NM_032862		144681231	1	no_errors	ENST00000504548	ensembl	human	known	70_37	silent	SNP	0.000	T	T	144681231	C	T	144681231	2	4	160	1	0	0	0	0	0	0	0	1	15929	871	31	1		1	TIGD5	8	144681231	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	23748	144681231	1682791	1067	29340										
EPPK1	83481	genome.wustl.edu	37	chr8	144942649	144942649	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccgcaggatgtgcctcctCagggcctctgggatgctcat	14	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144942649C>G	ENST00000525985.1	-	2	4844	c.4773G>C	c.(4771-4773)ctG>ctC	p.L1591L				P58107	EPIPL_HUMAN	epiplakin 1	1591						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTGCCTCCTCAGGGCCTCTG	0.647																																																	0													24	27	26					8																	144942649		2030	4172	6202	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4773G>C	8.37:g.144942649C>G			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1591	ENST00000525985.1	37	c.4773		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144942649	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.023	G	G	144942649	C	G	144942649	2	3	160	1	0	0	0	0	0	0	0	1	5202	813	29	1		1	EPPK1	8	144942649	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	261418	144942649	1421373	1068	29341										
EPPK1	83481	genome.wustl.edu	37	chr8	144942883	144942883	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggcctgcaggggctgcctCtctgcagcctcgaccagggt	15	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144942883C>G	ENST00000525985.1	-	2	4610	c.4539G>C	c.(4537-4539)gaG>gaC	p.E1513D				P58107	EPIPL_HUMAN	epiplakin 1	1513						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGCTGCCTCTCTGCAGCCT	0.682																																																	0													11	13	12					8																	144942883		2068	4193	6261	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4539G>C	8.37:g.144942883C>G	ENSP00000436337:p.Glu1513Asp		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E1513D	ENST00000525985.1	37	c.4539		8	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015518	0.19355	.	.	ENSG00000227184	ENST00000525985	T	0.75367	-0.93	4.54	-0.394	0.12434	.	.	.	.	.	T	0.75729	0.3889	M	0.64997	1.995	0.09310	N	1	D	0.63880	0.993	P	0.60173	0.87	T	0.62937	-0.6748	9	0.20046	T	0.44	.	4.4138	0.11447	0.0:0.4951:0.1581:0.3468	.	1513	E9PPU0	.	D	1513	ENSP00000436337:E1513D	ENSP00000436337:E1513D	E	-	3	2	EPPK1	145014871	0.022000	0.18835	0.000000	0.03702	0.034000	0.12701	0.184000	0.16939	-0.299000	0.08909	0.591000	0.81541	GAG	EPPK1	-	NULL		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144942883	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.011	G	G	144942883	C	G	144942883	3	3	160	1	0	0	0	0	1	0	0	0	5202	912	32	1	2727	1	EPPK1	8	144942883	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	234	144942883	1421139	1069	29342										
EPPK1	83481	genome.wustl.edu	37	chr8	144943044	144943044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctacaccccttaaacctccCtgtgctgacgggcaccttca	7	17	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144943044C>G	ENST00000525985.1	-	2	4449	c.4378G>C	c.(4378-4380)Ggg>Cgg	p.G1460R				P58107	EPIPL_HUMAN	epiplakin 1	1460						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTAAACCTCCCTGTGCTGACG	0.622																																																	0													38	42	40					8																	144943044		2189	4275	6464	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4378G>C	8.37:g.144943044C>G	ENSP00000436337:p.Gly1460Arg		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.G1460R	ENST00000525985.1	37	c.4378		8	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852463	0.51270	.	.	ENSG00000227184	ENST00000525985	T	0.74842	-0.88	4.49	4.49	0.54785	.	.	.	.	.	D	0.83161	0.5194	M	0.72894	2.215	0.35645	D	0.811286	D	0.89917	1.0	D	0.74023	0.982	D	0.83775	0.0222	9	0.19590	T	0.45	.	14.7235	0.69326	0.0:1.0:0.0:0.0	.	1460	E9PPU0	.	R	1460	ENSP00000436337:G1460R	ENSP00000436337:G1460R	G	-	1	0	EPPK1	145015032	0.997000	0.39634	0.911000	0.35937	0.117000	0.20001	4.639000	0.61361	2.326000	0.78906	0.655000	0.94253	GGG	EPPK1	-	NULL		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144943044	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.995	G	G	144943044	C	G	144943044	3	3	160	1	0	0	0	0	1	0	0	0	5202	681	24	4	2888	4	EPPK1	8	144943044	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	161	144943044	1420978	1070	29343										
EPPK1	83481	genome.wustl.edu	37	chr8	144945320	144945320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgcatggcctggaagaggGagatctgctgcccggtgtag	16	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144945320G>C	ENST00000525985.1	-	2	2173	c.2102C>G	c.(2101-2103)tCc>tGc	p.S701C				P58107	EPIPL_HUMAN	epiplakin 1	701						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAAGAGGGAGATCTGCTG	0.662																																																	0													52	56	55					8																	144945320		2149	4260	6409	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2102C>G	8.37:g.144945320G>C	ENSP00000436337:p.Ser701Cys		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.S701C	ENST00000525985.1	37	c.2102		8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102535	0.76983	.	.	ENSG00000227184	ENST00000525985	T	0.74209	-0.82	5.06	5.06	0.68205	.	.	.	.	.	D	0.86957	0.6058	M	0.84082	2.675	0.45250	D	0.998252	D	0.89917	1.0	D	0.97110	1.0	D	0.88651	0.3182	9	0.87932	D	0	.	15.9742	0.80049	0.0:0.0:1.0:0.0	.	701	E9PPU0	.	C	701	ENSP00000436337:S701C	ENSP00000436337:S701C	S	-	2	0	EPPK1	145017308	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	9.501000	0.97979	2.643000	0.89663	0.655000	0.94253	TCC	EPPK1	-	smart_Plectin_repeat		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144945320	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	1.000	C	C	144945320	G	C	144945320	3	2	160	1	0	0	0	0	1	0	0	0	5202	1174	41	1	5164	1	EPPK1	8	144945320	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2276	144945320	1418702	1071	29344										
PLEC	5339	genome.wustl.edu	37	chr8	144996117	144996117	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccggccattgggcagggtCtttgtggcagccacctgcga	14	13	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:144996117C>G	ENST00000322810.4	-	32	8452	c.8283G>C	c.(8281-8283)aaG>aaC	p.K2761N	PLEC_ENST00000356346.3_Missense_Mutation_p.K2610N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2647N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2624N|PLEC_ENST00000436759.2_Missense_Mutation_p.K2651N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2592N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2628N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2624N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2602N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2761	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCAGGGTCTTTGTGGCAG	0.682																																																	0													15	19	17					8																	144996117		2064	4147	6211	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8283G>C	8.37:g.144996117C>G	ENSP00000323856:p.Lys2761Asn		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.K2761N	ENST00000322810.4	37	c.8283	CCDS43772.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.617|1.617	-0.522615|-0.522615	0.04141|0.04141	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	T;T;T;T;T;T;T;T;T|.	0.78816|.	-1.18;-1.18;-1.21;-1.21;-1.19;-1.18;-1.18;-1.18;-1.18|.	3.95|3.95	-4.11|-4.11	0.03928|0.03928	.|.	0.295461|.	0.24750|.	U|.	0.035906|.	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.46157|0.46157	1.445|1.445	0.26090|0.26090	N|N	0.980962|0.980962	B;B;B;B;B;B;B;B|.	0.25609|.	0.039;0.039;0.039;0.023;0.039;0.039;0.13;0.039|.	B;B;B;B;B;B;B;B|.	0.28849|.	0.095;0.095;0.095;0.044;0.095;0.095;0.095;0.095|.	T|T	0.38607|0.38607	-0.9653|-0.9653	10|5	0.52906|.	T|.	0.07|.	.|.	7.0575|7.0575	0.25107|0.25107	0.1113:0.5163:0.0:0.3724|0.1113:0.5163:0.0:0.3724	.|.	2651;2610;2602;2761;2592;2624;2628;2624|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	N|T	2624;2628;2624;2592;2761;2602;2610;2651;2647|194	ENSP00000344848:K2624N;ENSP00000350277:K2628N;ENSP00000346602:K2624N;ENSP00000381756:K2592N;ENSP00000323856:K2761N;ENSP00000347044:K2602N;ENSP00000348702:K2610N;ENSP00000388180:K2651N;ENSP00000434583:K2647N|.	ENSP00000323856:K2761N|.	K|R	-|-	3|2	2|0	PLEC|PLEC	145068105|145068105	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	-0.110000|-0.110000	0.10824|0.10824	-1.056000|-1.056000	0.03205|0.03205	0.448000|0.448000	0.29417|0.29417	AAG|AGA	PLEC	-	NULL		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996117	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.367	G	G	144996117	C	G	144996117	3	3	160	1	0	0	0	0	1	0	0	0	12076	912	32	1	5775	1	PLEC	8	144996117	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	50797	144996117	1367905	1072	29345										
PLEC	5339	genome.wustl.edu	37	chr8	145006129	145006129	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagtaggcagcgttctccttCaggtgtgcctcgatacagca	11	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145006129C>T	ENST00000322810.4	-	18	2734	c.2565G>A	c.(2563-2565)ctG>ctA	p.L855L	PLEC_ENST00000356346.3_Silent_p.L704L|PLEC_ENST00000527096.1_Silent_p.L741L|PLEC_ENST00000354589.3_Silent_p.L718L|PLEC_ENST00000436759.2_Silent_p.L745L|PLEC_ENST00000398774.2_Silent_p.L686L|PLEC_ENST00000357649.2_Silent_p.L722L|PLEC_ENST00000345136.3_Silent_p.L718L|PLEC_ENST00000354958.2_Silent_p.L696L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	855	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTTCTCCTTCAGGTGTGCCT	0.667																																																	0													19	24	22					8																	145006129		2111	4236	6347	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2565G>A	8.37:g.145006129C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L855	ENST00000322810.4	37	c.2565	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145006129	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145006129	C	T	145006129	2	4	160	1	0	0	0	0	0	0	0	1	12076	813	29	1		1	PLEC	8	145006129	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	10012	145006129	1357893	1073	29346										
PLEC	5339	genome.wustl.edu	37	chr8	145012332	145012332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgtaccaggctgtcccccGagaggacctccagcagggag	13	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145012332G>A	ENST00000322810.4	-	3	831	c.662C>T	c.(661-663)tCg>tTg	p.S221L	PLEC_ENST00000356346.3_Missense_Mutation_p.S70L|PLEC_ENST00000527096.1_Missense_Mutation_p.S111L|PLEC_ENST00000354589.3_Missense_Mutation_p.S84L|PLEC_ENST00000436759.2_Missense_Mutation_p.S111L|PLEC_ENST00000398774.2_Missense_Mutation_p.S52L|PLEC_ENST00000357649.2_Missense_Mutation_p.S88L|PLEC_ENST00000345136.3_Missense_Mutation_p.S84L|PLEC_ENST00000354958.2_Missense_Mutation_p.S62L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	221	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGTCCCCCGAGAGGACCTC	0.692																																																	0													28	33	31					8																	145012332		1993	4153	6146	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.662C>T	8.37:g.145012332G>A	ENSP00000323856:p.Ser221Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S221L	ENST00000322810.4	37	c.662	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554336	0.65425	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.05	5.05	0.67936	Calponin homology domain (5);	0.000000	0.56097	U	0.000026	D	0.96667	0.8912	M	0.66378	2.025	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.998;0.998;0.998;0.998	D	0.97222	0.9878	10	0.87932	D	0	.	15.8854	0.79244	0.0:0.0:1.0:0.0	.	111;70;62;221;52;84;88;84	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	84;88;84;52;221;62;70;111;111;116;61;101	ENSP00000344848:S84L;ENSP00000350277:S88L;ENSP00000346602:S84L;ENSP00000381756:S52L;ENSP00000323856:S221L;ENSP00000347044:S62L;ENSP00000348702:S70L;ENSP00000388180:S111L;ENSP00000434583:S111L;ENSP00000437303:S116L;ENSP00000433557:S61L;ENSP00000436702:S101L	ENSP00000323856:S221L	S	-	2	0	PLEC	145084320	1.000000	0.71417	0.945000	0.38365	0.979000	0.70002	5.577000	0.67444	2.350000	0.79820	0.555000	0.69702	TCG	PLEC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145012332	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145012332	G	A	145012332	3	1	160	1	0	0	0	0	1	0	0	0	12076	1059	37	1	13512	1	PLEC	8	145012332	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6203	145012332	1351690	1074	29347										
PLEC	5339	genome.wustl.edu	37	chr8	145024811	145024811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttggccaccatcacgccctCgcggaagagcacctcataga	9	16	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145024811C>T	ENST00000322810.4	-	1	233	c.64G>A	c.(64-66)Gag>Aag	p.E22K	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	22	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCACGCCCTCGCGGAAGAGC	0.687																																																	0													7	10	9					8																	145024811		2069	4182	6251	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.64G>A	8.37:g.145024811C>T	ENSP00000323856:p.Glu22Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E22K	ENST00000322810.4	37	c.64	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	c	18.90	3.722172	0.68959	.	.	ENSG00000178209	ENST00000322810	D	0.83506	-1.73	4.9	4.9	0.64082	Plectin/S10, N-terminal (1);	0.128191	0.28560	U	0.014903	T	0.80460	0.4627	M	0.65975	2.015	0.80722	D	1	D	0.53151	0.958	B	0.38056	0.264	D	0.84821	0.0796	10	0.87932	D	0	.	15.5576	0.76208	0.0:1.0:0.0:0.0	.	22	Q15149	PLEC_HUMAN	K	22	ENSP00000323856:E22K	ENSP00000323856:E22K	E	-	1	0	PLEC	145096799	1.000000	0.71417	0.847000	0.33407	0.827000	0.46813	5.771000	0.68881	2.263000	0.75096	0.563000	0.77884	GAG	PLEC	-	pfam_S10_plectin_N		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145024811	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145024811	C	T	145024811	3	4	160	1	0	0	0	0	1	0	0	0	12076	893	31	1	14498	1	PLEC	8	145024811	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	12479	145024811	1339211	1075	29348										
HSF1	3297	genome.wustl.edu	37	chr8	145535024	145535024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctcattcagttcctgatCtcactggtgcagtcaaaccg	8	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145535024C>G	ENST00000528838.1	+	6	742	c.582C>G	c.(580-582)atC>atG	p.I194M	HSF1_ENST00000400780.4_Missense_Mutation_p.I129M	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	194	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I194M(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			AGTTCCTGATCTCACTGGTGC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											72	77	75					8																	145535024		2203	4296	6499	SO:0001583	missense	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.582C>G	8.37:g.145535024C>G	ENSP00000431512:p.Ile194Met		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.I194M	ENST00000528838.1	37	c.582	CCDS6419.1	8	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785166	0.49997	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.5	3.58	0.41010	.	0.137726	0.49916	D	0.000132	T	0.62221	0.2410	L	0.50333	1.59	0.40708	D	0.982544	D	0.58620	0.983	P	0.55577	0.779	T	0.66428	-0.5926	9	0.87932	D	0	-15.0935	10.3627	0.44003	0.1513:0.7027:0.146:0.0	.	194	Q00613	HSF1_HUMAN	M	194;129;129	.	ENSP00000383590:I129M	I	+	3	3	HSF1	145505832	0.006000	0.16342	1.000000	0.80357	0.977000	0.68977	-0.149000	0.10204	1.261000	0.44149	0.655000	0.94253	ATC	HSF1	-	NULL		0.632	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	C	NM_005526		145535024	1	no_errors	ENST00000528838	ensembl	human	known	70_37	missense	SNP	0.998	G	G	145535024	C	G	145535024	3	3	160	1	0	0	0	0	1	0	0	0	7415	903	32	1	604	1	HSF1	8	145535024	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	510213	145535024	828998	1076	29349										
DGAT1	8694	genome.wustl.edu	37	chr8	145540570	145540570	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacattcgcagagggacgctCaccaggtactgagatgggag	14	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145540570C>A	ENST00000332324.4	-	16	1530	c.1257G>T	c.(1255-1257)gtG>gtT	p.V419V	DGAT1_ENST00000527438.1_5'UTR|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	419					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAGGGACGCTCACCAGGTACT	0.647																																																	0													49	43	45					8																	145540570		2198	4293	6491	SO:0001819	synonymous_variant	8694			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1257G>T	8.37:g.145540570C>A			B2RWQ2|D3DWL6|Q96BB8	Nonsense_Mutation	SNP	superfamily_PEP-util_enz_mobile_dom	p.E254*	ENST00000332324.4	37	c.760	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	C	38	7.240073	0.98157	.	.	ENSG00000185000	ENST00000526479	.	.	.	4.55	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.5367	12.1634	0.54117	0.0:0.8259:0.1741:0.0	.	.	.	.	X	254	.	ENSP00000435883:E254X	E	-	1	0	DGAT1	145511378	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.050000	0.30404	1.100000	0.41517	0.561000	0.74099	GAG	DGAT1	-	NULL		0.647	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	C	NM_012079		145540570	-1	no_errors	ENST00000526479	ensembl	human	novel	70_37	nonsense	SNP	1.000	A	A	145540570	C	A	145540570	2	1	160	1	0	0	0	0	0	0	0	1	4467	813	29	3		3	DGAT1	8	145540570	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5546	145540570	823452	1077	29350										
CPSF1	29894	genome.wustl.edu	37	chr8	145623321	145623321	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgatgggggcgcccaggtCcacggggatgaagtgcagct	17	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145623321C>G	ENST00000349769.3	-	20	2015	c.1921G>C	c.(1921-1923)Gac>Cac	p.D641H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	641					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCGCCCAGGTCCACGGGGATG	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													29	29	29					8																	145623321		2203	4297	6500	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1921G>C	8.37:g.145623321C>G	ENSP00000339353:p.Asp641His		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.D641H	ENST00000349769.3	37	c.1921	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688543	0.68271	.	.	ENSG00000071894	ENST00000349769	T	0.34275	1.37	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.61983	-0.6950	10	0.72032	D	0.01	-15.0484	14.7099	0.69222	0.0:1.0:0.0:0.0	.	641	Q10570	CPSF1_HUMAN	H	641	ENSP00000339353:D641H	ENSP00000339353:D641H	D	-	1	0	CPSF1	145594129	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	4.976000	0.63785	2.541000	0.85698	0.491000	0.48974	GAC	CPSF1	-	NULL		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145623321	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145623321	C	G	145623321	3	3	160	1	0	0	0	0	1	0	0	0	3829	855	30	1	2486	1	CPSF1	8	145623321	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	82751	145623321	740701	1078	29351										
CPSF1	29894	genome.wustl.edu	37	chr8	145624235	145624235	+	Silent	SNP	C	C	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgggaagctcaaaggttgtCaccacctggggccggatgct							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145624235C>G	ENST00000349769.3	-	17	1666	c.1572G>C	c.(1570-1572)gtG>gtC	p.V524V	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	524					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAAAGGTTGTCACCACCTGGG	0.647																																					NSCLC(133;1088 1848 27708 34777 35269)												0													88	95	93					8																	145624235		2203	4300	6503	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1572G>C	8.37:g.145624235C>G			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.V524	ENST00000349769.3	37	c.1572	CCDS34966.1	8																																																																																			CPSF1	-	NULL		0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624235	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	1.000	G	G	145624235	C	G	145624235	2	3	160	1	0	0	0	0	0	0	0	1	3829	813	29	1		1	CPSF1	8	145624235	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	914	145624235	739787	1079	29352	186	2								
CPSF1	29894	genome.wustl.edu	37	chr8	145624241	145624241	+	Silent	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctcaaaggttgtcaccacCtggggccggatgctcttcta							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145624241C>T	ENST00000349769.3	-	17	1660	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	522					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTGTCACCACCTGGGGCCGGA	0.652																																					NSCLC(133;1088 1848 27708 34777 35269)												0													83	90	87					8																	145624241		2203	4300	6503	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1566G>A	8.37:g.145624241C>T			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q522	ENST00000349769.3	37	c.1566	CCDS34966.1	8																																																																																			CPSF1	-	NULL		0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624241	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145624241	C	T	145624241	2	4	160	1	0	0	0	0	0	0	0	1	3829	680	24	4		4	CPSF1	8	145624241	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6	145624241	739781	1080	29353	186	2								
PPP1R16A	84988	genome.wustl.edu	37	chr8	145724337	145724337	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgagagatggtgcagcagctCctggaggctggggccaacat	16	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr8:145724337C>T	ENST00000292539.4	+	4	1286	c.369C>T	c.(367-369)ctC>ctT	p.L123L	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.L123L|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	123						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCAGCAGCTCCTGGAGGCTG	0.647																																																	0													66	54	58					8																	145724337		2203	4300	6503	SO:0001819	synonymous_variant	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.369C>T	8.37:g.145724337C>T			D3DWM5	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L123	ENST00000292539.4	37	c.369	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280784	0.40294	.	.	ENSG00000255182	ENST00000532766	.	.	.	5.0	0.441	0.16577	.	.	.	.	.	T	0.63236	0.2494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65294	-0.6203	5	0.87932	D	0	.	8.9402	0.35725	0.0:0.2958:0.6058:0.0984	.	.	.	.	K	20	.	ENSP00000435686:E20K	E	-	1	0	CTD-2517M22.14	145695145	0.477000	0.25909	1.000000	0.80357	0.695000	0.40330	-0.282000	0.08445	0.479000	0.27511	0.462000	0.41574	GAG	PPP1R16A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.647	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	HGNC	protein_coding	OTTHUMT00000382459.1	C	NM_032902		145724337	1	no_errors	ENST00000292539	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145724337	C	T	145724337	2	4	160	1	0	0	0	0	0	0	0	1	12392	842	30	1		1	PPP1R16A	8	145724337	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	100096	145724337	639685	1081	29354										
CBWD1	55871	genome.wustl.edu	37	chr9	121487	121487	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttatgtacaaacttgatcttCttggaaacgtgttgtccact	7	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:121487C>T	ENST00000356521.4	-	15	1256	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CBWD1_ENST00000382447.4_Missense_Mutation_p.E371K|CBWD1_ENST00000377400.4_Missense_Mutation_p.E342K|CBWD1_ENST00000475411.1_5'Flank|CBWD1_ENST00000314367.10_Missense_Mutation_p.E354K	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	390							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTTGATCTTCTTGGAAACGT	0.318																																																	0													360	363	362					9																	121487		2203	4300	6503	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.1168G>A	9.37:g.121487C>T	ENSP00000348915:p.Glu390Lys		A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.E390K	ENST00000356521.4	37	c.1168	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	14.02	2.411330	0.42817	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367	T;T;T;T	0.09445	3.14;3.05;3.14;2.98	3.08	3.08	0.35506	.	0.358013	0.22609	N	0.057850	T	0.08626	0.0214	L	0.34521	1.04	0.26890	N	0.967348	P;P;B	0.47910	0.902;0.544;0.245	B;B;B	0.40101	0.319;0.2;0.073	T	0.15954	-1.0419	10	0.72032	D	0.01	-52.918	9.837	0.40975	0.0:1.0:0.0:0.0	.	371;354;390	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	K	390;342;371;354	ENSP00000348915:E390K;ENSP00000366617:E342K;ENSP00000371885:E371K;ENSP00000323433:E354K	ENSP00000323433:E354K	E	-	1	0	CBWD1	111487	1.000000	0.71417	0.362000	0.25862	0.248000	0.25809	1.222000	0.32515	1.732000	0.51606	0.479000	0.44913	GAA	CBWD1	-	NULL		0.318	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	C	NM_018491		121487	-1	no_errors	ENST00000356521	ensembl	human	known	70_37	missense	SNP	0.994	T	T	121487	C	T	121487	3	4	160	1	0	0	0	0	1	0	0	0	2717	922	32	1	23	1	CBWD1	9	121487	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		121487	141091944	1082	29355										
DOCK8	81704	genome.wustl.edu	37	chr9	334240	334240	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccagagtaaagaaaagattGaaaaactaaaactccaagct	6	7	0	4	rs368637845		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:334240G>C	ENST00000453981.1	+	11	1253	c.1141G>C	c.(1141-1143)Gaa>Caa	p.E381Q	DOCK8_ENST00000432829.2_Missense_Mutation_p.E313Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E313Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	381					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGAAAAGATTGAAAAACTAAA	0.443																																																	0								G	GLN/GLU,GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	61	62	61		937,937,1141	5.9	1	9		61	0,8600		0,0,4300	no	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	29,29,29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	313/2000,313/2032,381/2100	334240	1,13005	2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1141G>C	9.37:g.334240G>C	ENSP00000408464:p.Glu381Gln		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E381Q	ENST00000453981.1	37	c.1141	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876119	0.91664	2.27E-4	0.0	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.38077	1.16;1.16;1.16	5.87	5.87	0.94306	.	0.102371	0.64402	D	0.000002	T	0.53029	0.1771	L	0.49256	1.55	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.68483	0.958;0.934	T	0.24584	-1.0156	10	0.10636	T	0.68	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	313;381	E9PH09;Q8NF50	.;DOCK8_HUMAN	Q	381;381;313;313	ENSP00000408464:E381Q;ENSP00000394888:E313Q;ENSP00000419438:E313Q	ENSP00000287364:E381Q	E	+	1	0	DOCK8	324240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.642000	0.98461	2.941000	0.99782	0.655000	0.94253	GAA	DOCK8	-	NULL		0.443	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		334240	1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	C	C	334240	G	C	334240	3	2	160	1	0	0	0	0	1	0	0	0	4703	1291	45	1	1183	1	DOCK8	9	334240	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	212753	334240	140879191	1083	29356										
DOCK8	81704	genome.wustl.edu	37	chr9	421049	421049	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctccgtggggaaggggccaGaggggagatgatgcgccgcc	20	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:421049G>C	ENST00000453981.1	+	32	4236	c.4124G>C	c.(4123-4125)aGa>aCa	p.R1375T	DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1307T|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1275T|DOCK8_ENST00000382329.1_Missense_Mutation_p.R842T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1375					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAGGGGCCAGAGGGGAGATG	0.577																																																	0													72	77	75					9																	421049		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4124G>C	9.37:g.421049G>C	ENSP00000408464:p.Arg1375Thr		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.R1375T	ENST00000453981.1	37	c.4124	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	33	5.223564	0.95139	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02140	4.43;4.43;4.43;4.43	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	M	0.84846	2.72	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.992	D;D;D	0.65684	0.937;0.937;0.933	T	0.00297	-1.1838	10	0.41790	T	0.15	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	1275;842;1375	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	T	1375;1343;1307;1275;842	ENSP00000408464:R1375T;ENSP00000394888:R1307T;ENSP00000419438:R1275T;ENSP00000371766:R842T	ENSP00000287364:R1343T	R	+	2	0	DOCK8	411049	1.000000	0.71417	0.941000	0.38009	0.946000	0.59487	9.616000	0.98359	2.726000	0.93360	0.655000	0.94253	AGA	DOCK8	-	NULL		0.577	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		421049	1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	C	C	421049	G	C	421049	3	2	160	1	0	0	0	0	1	0	0	0	4703	942	33	1	4250	1	DOCK8	9	421049	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	86809	421049	140792382	1084	29357										
DOCK8	81704	genome.wustl.edu	37	chr9	463533	463533	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagatgtggtgaagctgtaGagaaaaacaagcgtctcatc	11	7	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:463533G>C	ENST00000453981.1	+	47	6197	c.6085G>C	c.(6085-6087)Gag>Cag	p.E2029Q	RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1961Q|RP11-165F24.3_ENST00000590518.1_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1929Q|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1496Q|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2029	DHR-2.			E -> K (in Ref. 8; AAG42221). {ECO:0000305}.	blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAAGCTGTAGAGAAAAACAA	0.383																																																	0													65	65	65					9																	463533		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.6085G>C	9.37:g.463533G>C	ENSP00000408464:p.Glu2029Gln		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E2029Q	ENST00000453981.1	37	c.6085	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631219	0.46944	.	.	ENSG00000107099	ENST00000453981;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.04	5.04	0.67666	.	0.099482	0.64402	D	0.000002	T	0.20007	0.0481	L	0.31926	0.97	0.58432	D	0.999997	B;B;B	0.24721	0.062;0.062;0.11	B;B;B	0.32980	0.11;0.156;0.156	T	0.04140	-1.0974	10	0.40728	T	0.16	.	13.1582	0.59531	0.0798:0.0:0.9202:0.0	.	1929;1496;2029	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Q	2029;1961;1929;1496	ENSP00000408464:E2029Q;ENSP00000394888:E1961Q;ENSP00000419438:E1929Q;ENSP00000371766:E1496Q	ENSP00000371766:E1496Q	E	+	1	0	DOCK8	453533	1.000000	0.71417	0.950000	0.38849	0.799000	0.45148	5.147000	0.64851	2.510000	0.84645	0.563000	0.77884	GAG	DOCK8	-	pfam_DOCK_C		0.383	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		463533	1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	0.998	C	C	463533	G	C	463533	3	2	160	1	0	0	0	0	1	0	0	0	4703	943	33	1	6271	1	DOCK8	9	463533	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	42484	463533	140749898	1085	29358										
VLDLR	7436	genome.wustl.edu	37	chr9	2643322	2643322	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttccagtgcagcacctcctCctgcatccccatcagctggg	9	17	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:2643322C>G	ENST00000382100.3	+	5	967	c.611C>G	c.(610-612)tCc>tGc	p.S204C	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.S204C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	204	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGCACCTCCTCCTGCATCCCC	0.587																																																	0													80	66	70					9																	2643322		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.611C>G	9.37:g.2643322C>G	ENSP00000371532:p.Ser204Cys		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S204C	ENST00000382100.3	37	c.611	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345054	0.82022	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099;ENST00000382092	D;D;D	0.95724	-3.79;-3.79;-3.79	5.5	4.6	0.57074	.	0.125962	0.36740	N	0.002421	D	0.95516	0.8543	L	0.41906	1.305	0.48511	D	0.999668	D;D;P	0.67145	0.996;0.996;0.937	P;D;P	0.65684	0.896;0.937;0.755	D	0.95213	0.8327	10	0.59425	D	0.04	.	10.5868	0.45288	0.0:0.7951:0.1335:0.0713	.	204;204;204	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	C	204;163;204;83	ENSP00000371532:S204C;ENSP00000371528:S163C;ENSP00000371531:S204C	ENSP00000371524:S83C	S	+	2	0	VLDLR	2633322	0.948000	0.32251	0.998000	0.56505	0.994000	0.84299	2.570000	0.45981	1.551000	0.49450	0.655000	0.94253	TCC	VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.587	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	C	NM_003383		2643322	1	no_errors	ENST00000382100	ensembl	human	known	70_37	missense	SNP	0.976	G	G	2643322	C	G	2643322	3	3	160	1	0	0	0	0	1	0	0	0	17205	855	30	1	629	1	VLDLR	9	2643322	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2179789	2643322	138570109	1086	29359										
KIAA0020	9933	genome.wustl.edu	37	chr9	2831026	2831026	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttacttaactcaaccaaatCatctgaaaaacaaaaataca	1	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:2831026C>T	ENST00000397885.2	-	7	819	c.613G>A	c.(613-615)Gat>Aat	p.D205N	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	205	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCAACCAAATCATCTGAAAAA	0.294																																																	0													32	31	31					9																	2831026		2187	4285	6472	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.613G>A	9.37:g.2831026C>T	ENSP00000380982:p.Asp205Asn		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D205N	ENST00000397885.2	37	c.613	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	8.929	0.963086	0.18583	.	.	ENSG00000080608	ENST00000397885	T	0.65732	-0.17	5.53	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.350689	0.34725	N	0.003738	T	0.35566	0.0936	N	0.13198	0.31	0.35764	D	0.820429	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25502	-1.0130	10	0.13470	T	0.59	-30.5625	2.4024	0.04405	0.0:0.4022:0.3119:0.2859	.	65;205	B2RDG4;Q15397	.;K0020_HUMAN	N	205	ENSP00000380982:D205N	ENSP00000380982:D205N	D	-	1	0	KIAA0020	2821026	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	1.884000	0.39668	1.179000	0.42884	0.650000	0.86243	GAT	KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.294	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	C	NM_014878		2831026	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	missense	SNP	0.990	T	T	2831026	C	T	2831026	3	4	160	1	0	0	0	0	1	0	0	0	8172	826	29	1	1381	1	KIAA0020	9	2831026	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	187704	2831026	138382405	1087	29360										
GLIS3	169792	genome.wustl.edu	37	chr9	3898693	3898693	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcctttgctgtctttacctGaatagaggtcaggcccgggt	12	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:3898693G>A	ENST00000324333.10	-	6	1854	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S709L|GLIS3-AS1_ENST00000451340.2_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	554					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCTTTACCTGAATAGAGGTC	0.532																																																	0													59	58	58					9																	3898693		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1661C>T	9.37:g.3898693G>A	ENSP00000325494:p.Ser554Leu		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S709L	ENST00000324333.10	37	c.2126	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095841	0.56075	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.52295	0.67;0.67	5.62	5.62	0.85841	.	0.696585	0.12179	N	0.492247	T	0.38983	0.1061	N	0.12182	0.205	0.34758	D	0.732483	P;B;B;B;B	0.35272	0.493;0.146;0.054;0.0;0.047	B;B;B;B;B	0.36845	0.234;0.038;0.034;0.001;0.024	T	0.54794	-0.8240	10	0.66056	D	0.02	.	19.6588	0.95855	0.0:0.0:1.0:0.0	.	149;222;222;709;554	Q59FQ6;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	L	554;709	ENSP00000325494:S554L;ENSP00000371398:S709L	ENSP00000325494:S554L	S	-	2	0	GLIS3	3888693	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	6.247000	0.72411	2.643000	0.89663	0.655000	0.94253	TCA	GLIS3	-	NULL		0.532	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	G	NM_152629		3898693	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3898693	G	A	3898693	3	1	160	1	0	0	0	0	1	0	0	0	6466	1294	45	1	686	1	GLIS3	9	3898693	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1067667	3898693	137314738	1088	29361										
C9orf68	55064	genome.wustl.edu	37	chr9	4622463	4622463	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gattttcttctagacctcctCaaatgatgctctgaaatatt	5	9	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:4622463C>G	ENST00000454239.2	-	8	962	c.717G>C	c.(715-717)ttG>ttC	p.L239F	SPATA6L_ENST00000381895.5_Missense_Mutation_p.L116F|SPATA6L_ENST00000475086.1_Missense_Mutation_p.L181F|SPATA6L_ENST00000223517.5_5'Flank|SPATA6L_ENST00000381890.5_Missense_Mutation_p.L253F			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	239																	TAGACCTCCTCAAATGATGCT	0.403																																																	0													102	98	99					9																	4622463		1854	4091	5945	SO:0001583	missense	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.717G>C	9.37:g.4622463C>G	ENSP00000404277:p.Leu239Phe		B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	NULL	p.L239F	ENST00000454239.2	37	c.717		9	.	.	.	.	.	.	.	.	.	.	C	7.693	0.691379	0.15039	.	.	ENSG00000106686	ENST00000454239;ENST00000381890;ENST00000475086;ENST00000381895	T;T;T;T	0.45276	1.87;0.9;1.87;1.9	4.11	-3.48	0.04739	.	0.613628	0.15284	N	0.270508	T	0.25901	0.0631	L	0.29908	0.895	0.09310	N	1	P;P;P	0.47677	0.899;0.531;0.547	P;B;B	0.44990	0.466;0.178;0.26	T	0.15037	-1.0451	10	0.56958	D	0.05	-11.3213	2.4791	0.04583	0.0994:0.322:0.3381:0.2406	.	181;116;239	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	F	239;253;181;116	ENSP00000404277:L239F;ENSP00000371314:L253F;ENSP00000417063:L181F;ENSP00000371319:L116F	ENSP00000371314:L253F	L	-	3	2	C9orf68	4612463	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.361000	0.07612	-0.747000	0.04759	0.643000	0.83706	TTG	SPATA6L	-	NULL		0.403	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		C	NM_017985		4622463	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	missense	SNP	0.000	G	G	4622463	C	G	4622463	3	3	160	1	0	0	0	0	1	0	0	0	2496	825	29	1	481	1	C9orf68	9	4622463	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	723770	4622463	136590968	1089	29362										
TPD52L3	89882	genome.wustl.edu	37	chr9	6328703	6328703	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagagctcaaaaccaaactCactaaattggaggctgaaat	8	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:6328703C>G	ENST00000344545.5	+	1	355	c.108C>G	c.(106-108)ctC>ctG	p.L36L	TPD52L3_ENST00000314556.3_Silent_p.L36L|TPD52L3_ENST00000381428.1_Silent_p.L36L	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	36										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAACCAAACTCACTAAATTGG	0.517																																																	0													95	90	92					9																	6328703		2203	4300	6503	SO:0001819	synonymous_variant	89882			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.108C>G	9.37:g.6328703C>G			Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	pfam_TPD52	p.L36	ENST00000344545.5	37	c.108	CCDS34986.1	9																																																																																			TPD52L3	-	pfam_TPD52		0.517	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L3	HGNC	protein_coding	OTTHUMT00000051658.1	C	NM_033516		6328703	1	no_errors	ENST00000344545	ensembl	human	known	70_37	silent	SNP	0.001	G	G	6328703	C	G	6328703	2	3	160	1	0	0	0	0	0	0	0	1	16431	813	29	1		1	TPD52L3	9	6328703	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1706240	6328703	134884728	1090	29363										
GLDC	2731	genome.wustl.edu	37	chr9	6605200	6605200	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctccgtgtctgggtactgGaacaacactccactgacatc	8	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:6605200G>C	ENST00000321612.6	-	6	942	c.792C>G	c.(790-792)ttC>ttG	p.F264L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	264					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CTGGGTACTGGAACAACACTC	0.498																																																	0													133	101	112					9																	6605200		2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.792C>G	9.37:g.6605200G>C	ENSP00000370737:p.Phe264Leu		Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.F264L	ENST00000321612.6	37	c.792	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097055	0.08681	.	.	ENSG00000178445	ENST00000321612	D	0.94862	-3.54	5.45	3.53	0.40419	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047185	0.85682	D	0.000000	T	0.80904	0.4713	N	0.03050	-0.425	0.52501	D	0.999959	B	0.09022	0.002	B	0.14023	0.01	T	0.72040	-0.4410	10	0.02654	T	1	-20.5082	6.9619	0.24601	0.4165:0.0:0.5835:0.0	.	264	P23378	GCSP_HUMAN	L	264	ENSP00000370737:F264L	ENSP00000370737:F264L	F	-	3	2	GLDC	6595200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.877000	0.39598	0.712000	0.32039	0.655000	0.94253	TTC	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo		0.498	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	G	NM_000170		6605200	-1	no_errors	ENST00000321612	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6605200	G	C	6605200	3	2	160	1	0	0	0	0	1	0	0	0	6452	1165	41	1	2350	1	GLDC	9	6605200	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	276497	6605200	134608231	1091	29364										
PTPRD	5789	genome.wustl.edu	37	chr9	8518128	8518128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attcgtgcctggacatccctCggggcactggatggtgcttg	14	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:8518128C>T	ENST00000381196.4	-	18	1806	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	PTPRD_ENST00000358503.5_Silent_p.P408P|PTPRD_ENST00000355233.5_Silent_p.P421P|PTPRD_ENST00000486161.1_Silent_p.P421P|PTPRD_ENST00000397617.3_Silent_p.P411P|PTPRD_ENST00000540109.1_Silent_p.P421P|PTPRD_ENST00000356435.5_Silent_p.P421P|PTPRD_ENST00000397606.3_Silent_p.P411P|PTPRD_ENST00000397611.3_Silent_p.P418P|PTPRD_ENST00000537002.1_Silent_p.P418P|PTPRD_ENST00000360074.4_Silent_p.P408P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	421	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P421P(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGACATCCCTCGGGGCACTGG	0.493										TSP Lung(15;0.13)																																							4	Substitution - coding silent(4)	lung(4)											172	163	166					9																	8518128		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1263G>A	9.37:g.8518128C>T			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.P421	ENST00000381196.4	37	c.1263	CCDS43786.1	9																																																																																			PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8518128	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	silent	SNP	0.000	T	T	8518128	C	T	8518128	2	4	160	1	0	0	0	0	0	0	0	1	12829	871	31	1		1	PTPRD	9	8518128	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1912928	8518128	132695303	1092	29365										
BNC2	54796	genome.wustl.edu	37	chr9	16436226	16436226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcattggggtcatcatcttCatcatcaaactcatcggcgg	8	11	8	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:16436226C>T	ENST00000380672.4	-	6	2023	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	BNC2_ENST00000545497.1_Missense_Mutation_p.E561K|BNC2_ENST00000380667.2_Missense_Mutation_p.E589K|BNC2_ENST00000380666.2_Missense_Mutation_p.E656K	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCATCATCTTCATCATCAAAC	0.488																																																	0													139	124	129					9																	16436226		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1966G>A	9.37:g.16436226C>T	ENSP00000370047:p.Glu656Lys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E656K	ENST00000380672.4	37	c.1966	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611741	0.28712	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.43294	1.54;0.95;1.56;1.56;1.56;1.54	6.17	6.17	0.99709	.	0.045453	0.85682	D	0.000000	T	0.30008	0.0751	N	0.12182	0.205	0.58432	D	0.999999	B;B;B;B;B;B;B;B;B	0.20052	0.004;0.002;0.015;0.041;0.015;0.002;0.009;0.024;0.009	B;B;B;B;B;B;B;B;B	0.17722	0.019;0.006;0.019;0.019;0.013;0.006;0.008;0.014;0.006	T	0.08868	-1.0701	10	0.20046	T	0.44	-13.7285	20.8794	0.99867	0.0:1.0:0.0:0.0	.	561;589;656;482;656;613;656;561;421	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	656;49;613;589;561;482;656;656	ENSP00000370047:E656K;ENSP00000392212:E49K;ENSP00000408370:E613K;ENSP00000370042:E589K;ENSP00000444640:E561K;ENSP00000370041:E656K	ENSP00000370041:E656K	E	-	1	0	BNC2	16426226	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	GAA	BNC2	-	NULL		0.488	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16436226	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16436226	C	T	16436226	3	4	160	1	0	0	0	0	1	0	0	0	1476	835	29	1	1341	1	BNC2	9	16436226	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7918098	16436226	124777205	1093	29366										
ELAVL2	1993	genome.wustl.edu	37	chr9	23701541	23701541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctggccatttaggcctttGatagcttcttctgcctcaat	7	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:23701541G>C	ENST00000397312.2	-	5	823	c.549C>G	c.(547-549)atC>atG	p.I183M	ELAVL2_ENST00000544538.1_Missense_Mutation_p.I183M|ELAVL2_ENST00000223951.6_Missense_Mutation_p.I183M|ELAVL2_ENST00000380117.1_Missense_Mutation_p.I183M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.I212M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTAGGCCTTTGATAGCTTCTT	0.448																																																	0													216	220	219					9																	23701541		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.549C>G	9.37:g.23701541G>C	ENSP00000380479:p.Ile183Met		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.I211M	ENST00000397312.2	37	c.633	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525819	0.85600	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.58669	1.825	0.80722	D	1	D;P	0.58268	0.982;0.456	D;B	0.68943	0.961;0.311	T	0.24048	-1.0171	10	0.87932	D	0	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	183;183	Q12926;Q12926-2	ELAV2_HUMAN;.	M	183;183;183;183;183;211;48;183	ENSP00000223951:I183M;ENSP00000380479:I183M;ENSP00000440998:I183M;ENSP00000369460:I183M;ENSP00000391757:I48M;ENSP00000412602:I183M	ENSP00000223951:I183M	I	-	3	3	ELAVL2	23691541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.995000	0.49441	2.812000	0.96745	0.563000	0.77884	ATC	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF		0.448	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	G	NM_004432		23701541	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23701541	G	C	23701541	3	2	160	1	0	0	0	0	1	0	0	0	5062	1280	45	1	542	1	ELAVL2	9	23701541	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7265315	23701541	117511890	1094	29367										
ELAVL2	1993	genome.wustl.edu	37	chr9	23762104	23762104	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgttctgaggaaggtagttGactattaagttggtcttgct	12	4	2	2	rs141278970		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:23762104G>A	ENST00000397312.2	-	2	403	c.129C>T	c.(127-129)gtC>gtT	p.V43V	ELAVL2_ENST00000544538.1_Silent_p.V43V|ELAVL2_ENST00000223951.6_Silent_p.V43V|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380117.1_Silent_p.V43V|ELAVL2_ENST00000380110.4_Silent_p.V72V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	43	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GAAGGTAGTTGACTATTAAGT	0.428																																																	0								G	,,	0,4406		0,0,2203	311	281	291		129,129,129	5	1	9	dbSNP_134	291	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELAVL2	NM_001171195.1,NM_001171197.1,NM_004432.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	43/347,43/347,43/360	23762104	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.129C>T	9.37:g.23762104G>A			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.V71	ENST00000397312.2	37	c.213	CCDS6515.1	9																																																																																			ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	G	NM_004432		23762104	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	silent	SNP	1.000	A	A	23762104	G	A	23762104	2	1	160	1	0	0	0	0	0	0	0	1	5062	1277	45	1		1	ELAVL2	9	23762104	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	60563	23762104	117451327	1095	29368										
IFT74	80173	genome.wustl.edu	37	chr9	27062636	27062636	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatagcaaccaagagtcaaGagagtgattaccagccaatt	8	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:27062636G>C	ENST00000443698.1	+	20	1876	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	IFT74_ENST00000380062.5_Missense_Mutation_p.E569Q|IFT74_ENST00000433700.1_Missense_Mutation_p.E569Q	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	569					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CAAGAGTCAAGAGAGTGATTA	0.373																																																	0													98	91	93					9																	27062636		1864	4104	5968	SO:0001583	missense	80173			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1705G>C	9.37:g.27062636G>C	ENSP00000404122:p.Glu569Gln		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	NULL	p.E569Q	ENST00000443698.1	37	c.1705	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170771	0.78452	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.34859	1.34;1.34;1.34	5.93	5.03	0.67393	.	0.049881	0.85682	D	0.000000	T	0.60366	0.2263	M	0.76002	2.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.65417	-0.6173	10	0.72032	D	0.01	-8.6895	14.8535	0.70316	0.0686:0.0:0.9314:0.0	.	569	Q96LB3	IFT74_HUMAN	Q	569	ENSP00000389224:E569Q;ENSP00000404122:E569Q;ENSP00000369402:E569Q	ENSP00000369402:E569Q	E	+	1	0	IFT74	27052636	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.467000	0.80930	1.510000	0.48803	0.563000	0.77884	GAG	IFT74	-	NULL		0.373	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2	G	NM_025103		27062636	1	no_errors	ENST00000380062	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27062636	G	C	27062636	3	2	160	1	0	0	0	0	1	0	0	0	7583	943	33	1	1848	1	IFT74	9	27062636	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3300532	27062636	114150795	1096	29369										
GALT	2592	genome.wustl.edu	37	chr9	34646747	34646747	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcaacgccagcaggcgtcaGaggcggacgccgcagcagca	15	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:34646747G>C	ENST00000378842.3	+	1	88	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	GALT_ENST00000556278.1_Missense_Mutation_p.E16Q|GALT_ENST00000450095.2_5'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	16					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCGTCAGAGGCGGACGC	0.667									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41	44	43					9																	34646747		2201	4300	6501	SO:0001583	missense	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.46G>C	9.37:g.34646747G>C	ENSP00000368119:p.Glu16Gln	849	B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1	p.E16Q	ENST00000378842.3	37	c.46	CCDS6565.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518752	0.85495	.	.	ENSG00000213930;ENSG00000258728	ENST00000378842;ENST00000556278	D;D	0.99557	-6.16;-5.07	5.64	5.64	0.86602	.	0.363501	0.21639	U	0.071366	D	0.98789	0.9592	N	0.25647	0.755	0.80722	D	1	D	0.57571	0.98	P	0.52598	0.703	D	0.99038	1.0823	10	0.44086	T	0.13	-7.9894	16.4444	0.83913	0.0:0.0:1.0:0.0	.	16	P07902	GALT_HUMAN	Q	16	ENSP00000368119:E16Q;ENSP00000451792:E16Q	ENSP00000368119:E16Q	E	+	1	0	RP11-195F19.29;GALT	34636747	0.988000	0.35896	1.000000	0.80357	0.280000	0.26924	2.319000	0.43788	2.675000	0.91044	0.462000	0.41574	GAG	GALT	-	pirsf_GalP_UDPtransf1		0.667	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALT	HGNC	protein_coding	OTTHUMT00000052231.1	G	NM_000155		34646747	1	no_errors	ENST00000378842	ensembl	human	known	70_37	missense	SNP	0.999	C	C	34646747	G	C	34646747	3	2	160	1	0	0	0	0	1	0	0	0	6249	943	33	1	48	1	GALT	9	34646747	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7584111	34646747	106566684	1097	29370										
UNC13B	10497	genome.wustl.edu	37	chr9	35310582	35310582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcgggagacggactcgattCattcttgccacagctctcac	9	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:35310582C>T	ENST00000378495.3	+	9	1102	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	UNC13B_ENST00000396787.1_Missense_Mutation_p.H306Y|UNC13B_ENST00000378496.4_Missense_Mutation_p.H294Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	294					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGACTCGATTCATTCTTGCCA	0.512																																																	0													136	135	135					9																	35310582		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.880C>T	9.37:g.35310582C>T	ENSP00000367756:p.His294Tyr		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.H306Y	ENST00000378495.3	37	c.916	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603382	0.28534	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.84589	-1.75;-1.68;-1.87	5.81	3.83	0.44106	.	0.549062	0.19594	N	0.110542	T	0.68632	0.3022	N	0.12961	0.28	0.35280	D	0.781254	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.65236	-0.6217	10	0.19590	T	0.45	-8.3879	6.5858	0.22620	0.0:0.6577:0.143:0.1993	.	294;294;294	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Y	306;294;294	ENSP00000380006:H306Y;ENSP00000367756:H294Y;ENSP00000367757:H294Y	ENSP00000367756:H294Y	H	+	1	0	UNC13B	35300582	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.247000	0.32815	2.746000	0.94184	0.655000	0.94253	CAT	UNC13B	-	NULL		0.512	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	C	NM_006377		35310582	1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35310582	C	T	35310582	3	4	160	1	0	0	0	0	1	0	0	0	17016	826	29	1	914	1	UNC13B	9	35310582	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	663835	35310582	105902849	1098	29371										
POLR1E	64425	genome.wustl.edu	37	chr9	37503116	37503116	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggccgccggcagtgaagaaGatcacaagctgggcaccctg	14	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:37503116G>C	ENST00000377798.4	+	12	1290	c.1177G>C	c.(1177-1179)Gat>Cat	p.D393H	POLR1E_ENST00000377792.3_Missense_Mutation_p.D455H|POLR1E_ENST00000442009.2_Missense_Mutation_p.D323H	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTGAAGAAGATCACAAGCT	0.547																																					Ovarian(116;843 1620 18506 32459 34463)												0													81	86	85					9																	37503116		2203	4300	6503	SO:0001583	missense	64425			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.1177G>C	9.37:g.37503116G>C	ENSP00000367029:p.Asp393His		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_RNA_pol-assoc_fac_A49-like	p.D455H	ENST00000377798.4	37	c.1363	CCDS6611.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085150	0.36758	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.22134	1.97;1.97;1.97	5.69	2.63	0.31362	.	0.963230	0.08678	N	0.909801	T	0.15782	0.0380	N	0.19112	0.55	0.26502	N	0.974754	B;B;B	0.22851	0.076;0.037;0.009	B;B;B	0.25405	0.06;0.042;0.014	T	0.30001	-0.9993	10	0.45353	T	0.12	-1.4785	10.5286	0.44963	0.0705:0.2489:0.6806:0.0	.	323;455;393	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	H	393;323;455	ENSP00000367029:D393H;ENSP00000399887:D323H;ENSP00000367023:D455H	ENSP00000367023:D455H	D	+	1	0	POLR1E	37493116	1.000000	0.71417	0.633000	0.29310	0.691000	0.40173	2.656000	0.46716	0.694000	0.31654	0.655000	0.94253	GAT	POLR1E	-	pfam_RNA_pol-assoc_fac_A49-like		0.547	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1E	HGNC	protein_coding	OTTHUMT00000052464.1	G	NM_022490		37503116	1	no_errors	ENST00000377792	ensembl	human	known	70_37	missense	SNP	0.803	C	C	37503116	G	C	37503116	3	2	160	1	0	0	0	0	1	0	0	0	12237	942	33	1	1223	1	POLR1E	9	37503116	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2192534	37503116	103710315	1099	29372										
ALDH1B1	219	genome.wustl.edu	37	chr9	38395833	38395833	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagccctcccaagccccattCtgaacccagacatcccctac	4	21	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:38395833C>G	ENST00000377698.3	+	2	241	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	30					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AAGCCCCATTCTGAACCCAGA	0.607																																																	0													80	74	76					9																	38395833		2203	4300	6503	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.88C>G	9.37:g.38395833C>G	ENSP00000366927:p.Leu30Val		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L30V	ENST00000377698.3	37	c.88	CCDS6615.1	9	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.349940	0.01266	.	.	ENSG00000137124	ENST00000377698	T	0.16324	2.35	5.81	3.99	0.46301	Aldehyde/histidinol dehydrogenase (1);	0.937540	0.08941	N	0.871547	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.25106	T	0.35	.	7.9699	0.30122	0.0:0.7542:0.0:0.2458	.	30	P30837	AL1B1_HUMAN	V	30	ENSP00000366927:L30V	ENSP00000366927:L30V	L	+	1	2	ALDH1B1	38385833	0.043000	0.20138	0.128000	0.21923	0.114000	0.19823	1.164000	0.31810	0.825000	0.34637	-0.136000	0.14681	CTG	ALDH1B1	-	superfamily_Ald_DH/histidinol_DH		0.607	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1	C			38395833	1	no_errors	ENST00000377698	ensembl	human	known	70_37	missense	SNP	0.003	G	G	38395833	C	G	38395833	3	3	160	1	0	0	0	0	1	0	0	0	493	912	32	1	90	1	ALDH1B1	9	38395833	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	892717	38395833	102817598	1100	29373										
C9orf71	169693	genome.wustl.edu	37	chr9	71152191	71152191	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcctcagcactcttggcctCgcctctgggcgtcctctgag	11	16	4	1	rs375725598		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:71152191C>G	ENST00000377311.3	-	2	549	c.497G>C	c.(496-498)cGa>cCa	p.R166P		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	166						integral component of membrane (GO:0016021)											CTCTTGGCCTCGCCTCTGGGC	0.562																																																	0													48	43	45					9																	71152191		2203	4300	6503	SO:0001583	missense	169693			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 71"	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.497G>C	9.37:g.71152191C>G	ENSP00000366528:p.Arg166Pro			Missense_Mutation	SNP	NULL	p.R166P	ENST00000377311.3	37	c.497	CCDS35040.1	9	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258399	0.23051	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.96	-3.81	0.04294	.	1.159720	0.06378	N	0.714681	T	0.26557	0.0649	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27502	-1.0072	9	0.32370	T	0.25	2.3443	10.9014	0.47054	0.0:0.3449:0.5047:0.1505	.	166	Q8N6L7	CI071_HUMAN	P	166	.	ENSP00000366528:R166P	R	-	2	0	C9orf71	70342011	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.093000	0.15086	-0.548000	0.06199	-1.004000	0.02495	CGA	TMEM252	-	NULL		0.562	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	C	NM_153237		71152191	-1	no_errors	ENST00000377311	ensembl	human	known	70_37	missense	SNP	0.000	G	G	71152191	C	G	71152191	3	3	160	1	0	0	0	0	1	0	0	0	2499	884	31	1	19	1	C9orf71	9	71152191	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	32756358	71152191	70061240	1101	29374										
TJP2	9414	genome.wustl.edu	37	chr9	71864376	71864376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagggacaatagcccgccccCagcattcaagccagagccgc	10	16	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:71864376C>T	ENST00000377245.4	+	20	3174	c.2966C>T	c.(2965-2967)cCa>cTa	p.P989L	TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.P1020L|TJP2_ENST00000535702.1_Intron|TJP2_ENST00000453658.2_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	989					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGCCCGCCCCCAGCATTCAAG	0.587																																																	0													31	26	28					9																	71864376		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2966C>T	9.37:g.71864376C>T	ENSP00000366453:p.Pro989Leu		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.P1020L	ENST00000377245.4	37	c.3059	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655818	0.88056	.	.	ENSG00000119139	ENST00000377245;ENST00000539225	T;T	0.10382	2.88;2.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.854	T	0.00510	-1.1697	10	0.87932	D	0	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	1020;989	F5H301;Q9UDY2	.;ZO2_HUMAN	L	989;1020	ENSP00000366453:P989L;ENSP00000438262:P1020L	ENSP00000366453:P989L	P	+	2	0	TJP2	71054196	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	6.439000	0.73430	2.700000	0.92200	0.563000	0.77884	CCA	TJP2	-	NULL		0.587	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71864376	1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71864376	C	T	71864376	3	4	160	1	0	0	0	0	1	0	0	0	15960	594	21	4	3303	4	TJP2	9	71864376	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	712185	71864376	69349055	1102	29375										
FAM189A2	9413	genome.wustl.edu	37	chr9	72006623	72006623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggcgaccttcacaccttcaCaccagcggggaggccccgag	12	17	2	0	rs376020765		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:72006623C>G	ENST00000257515.8	+	11	1676	c.1256C>G	c.(1255-1257)aCa>aGa	p.T419R	FAM189A2_ENST00000303068.7_Missense_Mutation_p.T254R|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.T419R|FAM189A2_ENST00000377216.3_Missense_Mutation_p.T206R	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	419						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACACCTTCACACCAGCGGGG	0.682																																																	0													31	34	33					9																	72006623		2203	4299	6502	SO:0001583	missense	9413			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1256C>G	9.37:g.72006623C>G	ENSP00000257515:p.Thr419Arg		Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	pfam_CD20-like	p.T419R	ENST00000257515.8	37	c.1256	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	C	7.012	0.556929	0.13436	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225;ENST00000377216	T;T;T	0.34667	4.12;4.12;1.35	5.53	2.47	0.30058	.	0.885835	0.09775	N	0.757489	T	0.23965	0.0580	L	0.40543	1.245	0.09310	N	1	P	0.34780	0.468	B	0.26969	0.075	T	0.15752	-1.0426	10	0.32370	T	0.25	-0.8938	5.0583	0.14544	0.0:0.5807:0.1516:0.2676	.	419	Q15884	F1892_HUMAN	R	419;419;254;418;206	ENSP00000395675:T419R;ENSP00000257515:T419R;ENSP00000304435:T254R	ENSP00000257515:T419R	T	+	2	0	FAM189A2	71196443	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.363000	0.20301	0.191000	0.20236	0.455000	0.32223	ACA	FAM189A2	-	NULL		0.682	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	C	NM_004816		72006623	1	no_errors	ENST00000257515	ensembl	human	known	70_37	missense	SNP	0.000	G	G	72006623	C	G	72006623	3	3	160	1	0	0	0	0	1	0	0	0	5531	478	17	4	1294	4	FAM189A2	9	72006623	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	142247	72006623	69206808	1103	29376										
MAMDC2	256691	genome.wustl.edu	37	chr9	72741133	72741133	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccaggaggtggcacagctCatctccccgttgaccacggc	11	15	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:72741133C>G	ENST00000377182.4	+	6	1319	c.702C>G	c.(700-702)ctC>ctG	p.L234L	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	234	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGGCACAGCTCATCTCCCCGT	0.517																																																	0													97	80	85					9																	72741133		2203	4300	6503	SO:0001819	synonymous_variant	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.702C>G	9.37:g.72741133C>G			Q5VW47|Q8WX43|Q96BM4	Silent	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.L234	ENST00000377182.4	37	c.702	CCDS6631.1	9																																																																																			MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.517	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72741133	1	no_errors	ENST00000377182	ensembl	human	known	70_37	silent	SNP	0.995	G	G	72741133	C	G	72741133	2	3	160	1	0	0	0	0	0	0	0	1	9226	813	29	1		1	MAMDC2	9	72741133	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	734510	72741133	68472298	1104	29377										
TMEM2	23670	genome.wustl.edu	37	chr9	74327133	74327133	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaagtgctccttgtgagatGaatgggcccatcataaatct	10	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:74327133G>A	ENST00000377044.4	-	16	3174	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.H816Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	879					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTGTGAGATGAATGGGCCCA	0.443																																																	0													135	125	128					9																	74327133		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2635C>T	9.37:g.74327133G>A	ENSP00000366243:p.His879Tyr		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.H879Y	ENST00000377044.4	37	c.2635	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	8.503	0.864721	0.17250	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.56611	0.45;0.45	5.28	5.28	0.74379	Pectin lyase fold/virulence factor (1);	0.101235	0.64402	D	0.000011	T	0.47544	0.1451	L	0.51422	1.61	0.80722	D	1	B;B	0.32800	0.267;0.385	B;B	0.40134	0.171;0.32	T	0.35301	-0.9794	10	0.02654	T	1	.	13.5709	0.61845	0.0749:0.0:0.925:0.0	.	879;816	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	879;816	ENSP00000366243:H879Y;ENSP00000366266:H816Y	ENSP00000366243:H879Y	H	-	1	0	TMEM2	73516953	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.234000	0.58658	2.650000	0.89964	0.591000	0.81541	CAT	TMEM2	-	superfamily_Pectin_lyase_fold/virulence		0.443	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	G	NM_013390		74327133	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74327133	G	A	74327133	3	1	160	1	0	0	0	0	1	0	0	0	16151	1290	45	1	1552	1	TMEM2	9	74327133	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1586000	74327133	66886298	1105	29378										
TMEM2	23670	genome.wustl.edu	37	chr9	74361180	74361180	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagacggagcatatctccctCcttgataacaacttgctttg	7	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:74361180C>A	ENST00000377044.4	-	3	948	c.409G>T	c.(409-411)Gag>Tag	p.E137*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.E137*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	137	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATATCTCCCTCCTTGATAACA	0.448																																																	0													159	145	150					9																	74361180		2203	4300	6503	SO:0001587	stop_gained	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.409G>T	9.37:g.74361180C>A	ENSP00000366243:p.Glu137*		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.E137*	ENST00000377044.4	37	c.409	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.612641	0.96637	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	.	.	.	5.5	0.839	0.18907	.	0.488214	0.24735	N	0.036032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	5.3322	0.15938	0.0:0.2097:0.5148:0.2755	.	.	.	.	X	137	.	ENSP00000366243:E137X	E	-	1	0	TMEM2	73551000	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.372000	0.34261	0.253000	0.21552	-0.140000	0.14226	GAG	TMEM2	-	pfam_G8_domain		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	C	NM_013390		74361180	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	74361180	C	A	74361180	4	1	160	1	0	0	0	0	0	1	0	0	16151	864	30	3	3830	3	TMEM2	9	74361180	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	34047	74361180	66852251	1106	29379										
TMEM2	23670	genome.wustl.edu	37	chr9	74365015	74365015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcaagtgcaataaaaaatGagaaactagtaatagcaaaa	7	4	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:74365015G>A	ENST00000377044.4	-	2	814	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TMEM2_ENST00000377066.5_Missense_Mutation_p.S92L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	92					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATAAAAAATGAGAAACTAGT	0.343																																																	0													79	72	74					9																	74365015		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.275C>T	9.37:g.74365015G>A	ENSP00000366243:p.Ser92Leu		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.S92L	ENST00000377044.4	37	c.275	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443769	0.63067	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.73363	-0.74;-0.69	5.35	5.35	0.76521	.	0.441621	0.25076	N	0.033340	T	0.65417	0.2689	N	0.19112	0.55	0.80722	D	1	B;B	0.27140	0.02;0.169	B;B	0.28139	0.008;0.086	T	0.62996	-0.6735	10	0.52906	T	0.07	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	92;92	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	92	ENSP00000366243:S92L;ENSP00000366266:S92L	ENSP00000366243:S92L	S	-	2	0	TMEM2	73554835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.331000	0.59273	2.941000	0.99782	0.655000	0.94253	TCA	TMEM2	-	NULL		0.343	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	G	NM_013390		74365015	-1	no_errors	ENST00000377044	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74365015	G	A	74365015	3	1	160	1	0	0	0	0	1	0	0	0	16151	1294	45	1	3968	1	TMEM2	9	74365015	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3835	74365015	66848416	1107	29380										
NFIL3	4783	genome.wustl.edu	37	chr9	94172030	94172030	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctgcatggctttggctttGatccggagcttgtgtggcaa	13	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:94172030G>C	ENST00000297689.3	-	2	1381	c.987C>G	c.(985-987)atC>atG	p.I329M		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	329	Necessary for transcriptional repression and sufficient for interaction with DR1.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTTTGGCTTTGATCCGGAGCT	0.443																																					Esophageal Squamous(152;732 1832 10053 26981 51762)												0													130	128	128					9																	94172030		2203	4300	6503	SO:0001583	missense	4783			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.987C>G	9.37:g.94172030G>C	ENSP00000297689:p.Ile329Met		B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.I329M	ENST00000297689.3	37	c.987	CCDS6690.1	9	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856182	0.51376	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	-2.24	0.06909	Vertebrate interleukin-3 regulated transcription factor (1);	0.000000	0.64402	D	0.000001	T	0.66056	0.2751	M	0.69823	2.125	0.45284	D	0.99828	D	0.89917	1.0	D	0.97110	1.0	T	0.63769	-0.6562	9	0.66056	D	0.02	-26.2514	5.2588	0.15561	0.3983:0.0:0.3818:0.2199	.	329	Q16649	NFIL3_HUMAN	M	329	.	ENSP00000297689:I329M	I	-	3	3	NFIL3	93211851	0.896000	0.30565	0.883000	0.34634	0.922000	0.55478	0.013000	0.13310	-0.271000	0.09272	0.561000	0.74099	ATC	NFIL3	-	pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4		0.443	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2	G	NM_005384		94172030	-1	no_errors	ENST00000297689	ensembl	human	known	70_37	missense	SNP	0.963	C	C	94172030	G	C	94172030	3	2	160	1	0	0	0	0	1	0	0	0	10397	1280	45	1	405	1	NFIL3	9	94172030	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	19807015	94172030	47041401	1108	29381										
NOL8	55035	genome.wustl.edu	37	chr9	95077787	95077787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctcctgagtcatactcacGatcatttctcataatatcat	3	11	6	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:95077787G>A	ENST00000535387.1	-	6	1119	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	NOL8_ENST00000358855.4_Missense_Mutation_p.R306C|NOL8_ENST00000542053.1_Missense_Mutation_p.R306C|NOL8_ENST00000545558.1_Missense_Mutation_p.R374C|NOL8_ENST00000442668.2_Missense_Mutation_p.R374C					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCATACTCACGATCATTTCTC	0.328																																																	0													63	54	57					9																	95077787		1861	4099	5960	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1120C>T	9.37:g.95077787G>A	ENSP00000441300:p.Arg374Cys			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R374C	ENST00000535387.1	37	c.1120	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	0.210	-1.037364	0.02013	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.5;2.5;2.5;2.72;2.5;2.23;0.92	5.63	-11.3	0.00108	.	1.442720	0.03587	N	0.231180	T	0.16599	0.0399	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	10	0.38643	T	0.18	8.3153	1.8439	0.03155	0.2503:0.1188:0.3197:0.3112	.	374	Q76FK4	NOL8_HUMAN	C	374;376;306;374;374;306;374;374	ENSP00000401177:R374C;ENSP00000351723:R306C;ENSP00000441140:R374C;ENSP00000441300:R374C;ENSP00000440709:R306C;ENSP00000414112:R374C;ENSP00000412471:R374C	ENSP00000351723:R306C	R	-	1	0	NOL8	94117608	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.307000	0.08167	-3.231000	0.00209	-5.268000	0.00001	CGT	NOL8	-	NULL		0.328	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95077787	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.000	A	A	95077787	G	A	95077787	3	1	160	1	0	0	0	0	1	0	0	0	10551	1058	37	1	2427	1	NOL8	9	95077787	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	905757	95077787	46135644	1109	29382										
C9orf102	375748	genome.wustl.edu	37	chr9	98643199	98643199	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccccttctccagataatgGaaaactttgtgaagcaagca	8	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:98643199G>C	ENST00000288985.7	+	2	433	c.128G>C	c.(127-129)gGa>gCa	p.G43A	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	43					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCAGATAATGGAAAACTTTGT	0.363																																																	0													63	66	65					9																	98643199		2203	4300	6503	SO:0001583	missense	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.128G>C	9.37:g.98643199G>C	ENSP00000288985:p.Gly43Ala		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G43A	ENST00000288985.7	37	c.128	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576415	0.28092	.	.	ENSG00000182150	ENST00000288985	D	0.90563	-2.69	4.93	-1.98	0.07480	.	0.641780	0.12963	N	0.424852	T	0.79667	0.4485	N	0.19112	0.55	0.80722	D	1	B	0.23650	0.089	B	0.20577	0.03	T	0.63225	-0.6685	10	0.37606	T	0.19	-3.8282	7.0826	0.25239	0.3942:0.1333:0.4724:0.0	.	43	Q5T890	RAD26_HUMAN	A	43	ENSP00000288985:G43A	ENSP00000288985:G43A	G	+	2	0	C9orf102	97683020	0.982000	0.34865	0.992000	0.48379	0.836000	0.47400	1.198000	0.32223	-0.176000	0.10707	-0.229000	0.12294	GGA	ERCC6L2	-	NULL		0.363	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98643199	1	no_errors	ENST00000288985	ensembl	human	novel	70_37	missense	SNP	0.988	C	C	98643199	G	C	98643199	3	2	160	1	0	0	0	0	1	0	0	0	2450	1174	41	1	134	1	C9orf102	9	98643199	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3565412	98643199	42570232	1110	29383										
XPA	7507	genome.wustl.edu	37	chr9	100447309	100447309	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactaccccaaacttcaagaGacctcttcacaatctacaac	3	15	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100447309G>A	ENST00000375128.4	-	5	633	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	190					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AACTTCAAGAGACCTCTTCAC	0.328			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"xeroderma pigmentosum, complementation group A"		E	0													114	107	109					9																	100447309		2203	4298	6501	SO:0001583	missense	7507	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.569C>T	9.37:g.100447309G>A	ENSP00000364270:p.Ser190Phe		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA	p.S190F	ENST00000375128.4	37	c.569	CCDS6729.1	9	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880825	0.72294	.	.	ENSG00000136936	ENST00000375128	T	0.61859	0.07	4.98	4.98	0.66077	DNA binding domain, putative (1);	0.517984	0.23220	N	0.050574	T	0.63604	0.2525	L	0.50333	1.59	0.47374	D	0.999401	P	0.43169	0.8	P	0.48654	0.585	T	0.67325	-0.5699	10	0.87932	D	0	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	190	P23025	XPA_HUMAN	F	190	ENSP00000364270:S190F	ENSP00000364270:S190F	S	-	2	0	XPA	99487130	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.514000	0.73746	2.700000	0.92200	0.467000	0.42956	TCT	XPA	-	superfamily_DNA-bd_dom_put,tigrfam_XPA		0.328	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	G	NM_000380		100447309	-1	no_errors	ENST00000375128	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100447309	G	A	100447309	3	1	160	1	0	0	0	0	1	0	0	0	17471	942	33	1	260	1	XPA	9	100447309	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1804110	100447309	40766122	1111	29384										
XPA	7507	genome.wustl.edu	37	chr9	100449429	100449429	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cattgtgaatgatgtggattCttcttcacaataaatttaag	7	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100449429C>T	ENST00000375128.4	-	4	568	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	168					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GATGTGGATTCTTCTTCACAA	0.308			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"xeroderma pigmentosum, complementation group A"		E	0													122	129	127					9																	100449429		2203	4298	6501	SO:0001819	synonymous_variant	7507	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.504G>A	9.37:g.100449429C>T			Q5T1U9|Q6LCW7|Q6LD02	Silent	SNP	pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA	p.K168	ENST00000375128.4	37	c.504	CCDS6729.1	9																																																																																			XPA	-	pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA		0.308	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	C	NM_000380		100449429	-1	no_errors	ENST00000375128	ensembl	human	known	70_37	silent	SNP	1.000	T	T	100449429	C	T	100449429	2	4	160	1	0	0	0	0	0	0	0	1	17471	912	32	1		1	XPA	9	100449429	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2120	100449429	40764002	1112	29385										
TRIM14	9830	genome.wustl.edu	37	chr9	100849773	100849773	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagggcagccgggggatgctGatggccccctcccagagccg	16	14	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100849773G>A	ENST00000341469.2	-	6	1317	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	TRIM14_ENST00000342043.3_Silent_p.I436I|TRIM14_ENST00000538344.1_Silent_p.I217I|TRIM14_ENST00000375098.3_Silent_p.I436I|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GGGGGATGCTGATGGCCCCCT	0.682																																					Colon(14;460 597 13826 51781)												0													11	14	13					9																	100849773		2194	4290	6484	SO:0001819	synonymous_variant	9830			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.1308C>T	9.37:g.100849773G>A			A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.I436	ENST00000341469.2	37	c.1308	CCDS6734.1	9																																																																																			TRIM14	-	smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.682	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM14	HGNC	protein_coding	OTTHUMT00000053350.1	G	NM_014788		100849773	-1	no_errors	ENST00000341469	ensembl	human	known	70_37	silent	SNP	0.948	A	A	100849773	G	A	100849773	2	1	160	1	0	0	0	0	0	0	0	1	16520	1280	45	1		1	TRIM14	9	100849773	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	400344	100849773	40363658	1113	29386										
CORO2A	7464	genome.wustl.edu	37	chr9	100889065	100889065	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaggcagtgggtggggtctCagcagctcagagccaggcct	17	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100889065C>T	ENST00000343933.5	-	11	1469	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	CORO2A_ENST00000375077.4_Silent_p.L404L	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	404					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGGGGTCTCAGCAGCTCAG	0.592																																																	0													82	86	85					9																	100889065		2203	4300	6503	SO:0001819	synonymous_variant	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1212G>A	9.37:g.100889065C>T			Q5TBR5|Q92829|Q9BWS5	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L404	ENST00000343933.5	37	c.1212	CCDS6735.1	9																																																																																			CORO2A	-	NULL		0.592	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	C	NM_003389		100889065	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	silent	SNP	0.003	T	T	100889065	C	T	100889065	2	4	160	1	0	0	0	0	0	0	0	1	3761	813	29	1		1	CORO2A	9	100889065	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	39292	100889065	40324366	1114	29387										
CORO2A	7464	genome.wustl.edu	37	chr9	100890986	100890986	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaggacacgtcgagtcctCtctttggcatgacacctgaa	11	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100890986C>G	ENST00000343933.5	-	9	1240	c.983G>C	c.(982-984)aGa>aCa	p.R328T	CORO2A_ENST00000375077.4_Missense_Mutation_p.R328T	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	328					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTCGAGTCCTCTCTTTGGCAT	0.587																																																	0													91	81	84					9																	100890986		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.983G>C	9.37:g.100890986C>G	ENSP00000343746:p.Arg328Thr		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R328T	ENST00000343933.5	37	c.983	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191087	0.78902	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.31247	1.5;1.5	5.33	4.43	0.53597	Domain of unknown function DUF1900 (1);	0.044297	0.85682	D	0.000000	T	0.58119	0.2100	M	0.83118	2.625	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.64584	-0.6373	10	0.56958	D	0.05	-16.5396	14.6189	0.68569	0.1472:0.8528:0.0:0.0	.	328	Q92828	COR2A_HUMAN	T	328	ENSP00000343746:R328T;ENSP00000364218:R328T	ENSP00000343746:R328T	R	-	2	0	CORO2A	99930807	0.091000	0.21658	1.000000	0.80357	0.837000	0.47467	1.107000	0.31110	1.364000	0.46038	0.561000	0.74099	AGA	CORO2A	-	pfam_DUF1900		0.587	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	C	NM_003389		100890986	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100890986	C	G	100890986	3	3	160	1	0	0	0	0	1	0	0	0	3761	913	32	1	610	1	CORO2A	9	100890986	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1921	100890986	40322445	1115	29388										
CORO2A	7464	genome.wustl.edu	37	chr9	100892173	100892173	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagcggatgttgccatctccCtgaggaggaggagaaggaag	16	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:100892173C>G	ENST00000343933.5	-	8	1128		c.e8-1		CORO2A_ENST00000375077.4_Splice_Site	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A						actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGCCATCTCCCTgaggaggag	0.547																																																	0													94	75	82					9																	100892173		2203	4300	6503	SO:0001630	splice_region_variant	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.871-1G>C	9.37:g.100892173C>G			Q5TBR5|Q92829|Q9BWS5	Splice_Site	SNP	-	e7-1	ENST00000343933.5	37	c.871-1	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438308	0.83885	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.032	0.86463	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO2A	99931994	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.228000	0.78079	2.561000	0.86390	0.561000	0.74099	.	CORO2A	-	-		0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	C	NM_003389	Intron	100892173	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	100892173	C	G	100892173	5	3	160	1	0	0	0	0	0	0	1	0	3761	695	24	4	727	4	CORO2A	9	100892173	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1187	100892173	40321258	1116	29389										
INVS	27130	genome.wustl.edu	37	chr9	103015233	103015233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaagatggacattctcttCtacattgggcagcactggga	10	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:103015233C>G	ENST00000262457.2	+	10	1464	c.1279C>G	c.(1279-1281)Cta>Gta	p.L427V	INVS_ENST00000262456.2_Missense_Mutation_p.L427V|INVS_ENST00000541287.1_Missense_Mutation_p.L331V	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	427					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				ACATTCTCTTCTACATTGGGC	0.368																																																	0													91	87	89					9																	103015233		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1279C>G	9.37:g.103015233C>G	ENSP00000262457:p.Leu427Val		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.L427V	ENST00000262457.2	37	c.1279	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544371	0.65198	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	D;D;D	0.81739	-1.53;-1.53;-1.53	5.71	2.9	0.33743	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.88640	2.97	0.58432	D	0.999994	D;P;P	0.54772	0.968;0.95;0.702	P;P;P	0.61874	0.881;0.895;0.646	D	0.88101	0.2819	10	0.87932	D	0	.	9.8982	0.41331	0.0:0.7269:0.0:0.2731	.	331;427;427	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	V	427;331;427	ENSP00000262457:L427V;ENSP00000444454:L331V;ENSP00000262456:L427V	ENSP00000262456:L427V	L	+	1	2	INVS	102055054	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.154000	0.50693	0.356000	0.24157	-0.253000	0.11424	CTA	INVS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.368	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	C	NM_014425		103015233	1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103015233	C	G	103015233	3	3	160	1	0	0	0	0	1	0	0	0	7807	912	32	1	1313	1	INVS	9	103015233	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2123060	103015233	38198198	1117	29390										
INVS	27130	genome.wustl.edu	37	chr9	103054935	103054935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggcgcactcaagagctcaGaggaggaaggtgctctccgg	15	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:103054935G>A	ENST00000262457.2	+	14	2581	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	INVS_ENST00000541287.1_Missense_Mutation_p.R703K|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	799					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGAGCTCAGAGGAGGAAGG	0.632																																																	0													57	58	57					9																	103054935		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2396G>A	9.37:g.103054935G>A	ENSP00000262457:p.Arg799Lys		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R799K	ENST00000262457.2	37	c.2396	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274565	0.23307	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.38560	1.13;1.13	5.65	-0.91	0.10511	.	0.447134	0.26289	N	0.025227	T	0.19248	0.0462	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32824	-0.9892	10	0.02654	T	1	.	10.4738	0.44652	0.3287:0.0:0.6713:0.0	.	703;799	F5GZH2;Q9Y283	.;INVS_HUMAN	K	799;703	ENSP00000262457:R799K;ENSP00000444454:R703K	ENSP00000262457:R799K	R	+	2	0	INVS	102094756	0.995000	0.38212	0.867000	0.34043	0.994000	0.84299	0.408000	0.21065	-0.309000	0.08779	-0.269000	0.10298	AGA	INVS	-	NULL		0.632	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	G	NM_014425		103054935	1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	0.745	A	A	103054935	G	A	103054935	3	1	160	1	0	0	0	0	1	0	0	0	7807	942	33	1	2446	1	INVS	9	103054935	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	39702	103054935	38158496	1118	29391										
TEX10	54881	genome.wustl.edu	37	chr9	103102638	103102638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatcaataaggtagttctttCgaagccatgactcctattga	7	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:103102638C>T	ENST00000374902.4	-	5	1327	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	TEX10_ENST00000535814.1_Missense_Mutation_p.R387Q|TEX10_ENST00000537512.1_Missense_Mutation_p.R319Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	384						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GTAGTTCTTTCGAAGCCATGA	0.294																																																	0													119	130	126					9																	103102638		2202	4297	6499	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1151G>A	9.37:g.103102638C>T	ENSP00000364037:p.Arg384Gln		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R384Q	ENST00000374902.4	37	c.1151	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856098	0.51376	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	.	.	.	5.59	5.59	0.84812	Armadillo-type fold (1);	0.136413	0.48767	D	0.000174	T	0.77329	0.4114	M	0.69823	2.125	0.49915	D	0.999834	D;D;D;D;D	0.89917	0.974;0.999;1.0;0.999;0.998	B;P;D;P;P	0.65233	0.183;0.749;0.933;0.9;0.663	T	0.76903	-0.2787	9	0.45353	T	0.12	-6.0776	17.7729	0.88499	0.0:1.0:0.0:0.0	.	319;387;252;252;384	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	Q	387;384;252;29;319	.	ENSP00000364037:R384Q	R	-	2	0	TEX10	102142459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.427000	0.59888	2.614000	0.88457	0.591000	0.81541	CGA	TEX10	-	superfamily_ARM-type_fold		0.294	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	C	NM_017746		103102638	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103102638	C	T	103102638	3	4	160	1	0	0	0	0	1	0	0	0	15802	884	31	1	1682	1	TEX10	9	103102638	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	47703	103102638	38110793	1119	29392										
MRPL50	54534	genome.wustl.edu	37	chr9	104152783	104152783	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gattttcaaattggggggcaGattactggcactgagttcat	12	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:104152783G>A	ENST00000374865.4	-	2	463	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	148						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				TTGGGGGGCAGATTACTGGCA	0.418																																																	0													71	72	72					9																	104152783		2201	4293	6494	SO:0001819	synonymous_variant	54534			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"Mitochondrial ribosomal proteins / large subunits"	16654	protein-coding gene	gene with protein product	"mitochondrial 39S ribosomal protein L50"	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.442C>T	9.37:g.104152783G>A			B7Z358|Q5T7E0|Q9NX15	Silent	SNP	pfam_Ribosomal_L50_mt	p.L148	ENST00000374865.4	37	c.442	CCDS6753.1	9																																																																																			MRPL50	-	pfam_Ribosomal_L50_mt		0.418	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL50	HGNC	protein_coding	OTTHUMT00000053450.1	G	NM_019051		104152783	-1	no_errors	ENST00000374865	ensembl	human	known	70_37	silent	SNP	0.911	A	A	104152783	G	A	104152783	2	1	160	1	0	0	0	0	0	0	0	1	9837	933	33	1		1	MRPL50	9	104152783	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1050145	104152783	37060648	1120	29393										
EPB41L4B	54566	genome.wustl.edu	37	chr9	112018705	112018705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgtctaccccatacatttCcagccacttcgctttattca	3	15	2	0	rs267602079		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:112018705C>G	ENST00000374566.3	-	8	1325	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.E270Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	270	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATACATTTCCAGCCACTTC	0.423																																																	0													127	123	125					9																	112018705		1933	4137	6070	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.808G>C	9.37:g.112018705C>G	ENSP00000363694:p.Glu270Gln		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E270Q	ENST00000374566.3	37	c.808	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.178487	0.94846	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.87491	-2.26;-2.26	5.84	5.84	0.93424	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.41294	D	0.000903	D	0.95614	0.8574	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.95817	0.8846	10	0.66056	D	0.02	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	270;270	Q9H329-2;Q9H329	.;E41LB_HUMAN	Q	270;270;192	ENSP00000363694:E270Q;ENSP00000363685:E270Q	ENSP00000311274:E192Q	E	-	1	0	EPB41L4B	111058526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.579000	0.82511	2.779000	0.95612	0.655000	0.94253	GAA	EPB41L4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	C	NM_018424		112018705	-1	no_errors	ENST00000374566	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112018705	C	G	112018705	3	3	160	1	0	0	0	0	1	0	0	0	5168	864	30	1	2122	1	EPB41L4B	9	112018705	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7865922	112018705	29194726	1121	29394										
ZNF483	158399	genome.wustl.edu	37	chr9	114304503	114304503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcagccttaaataaagatGagggaaatgagagtggagaa	13	3	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:114304503G>A	ENST00000309235.5	+	6	1446	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAATAAAGATGAGGGAAATGA	0.388																																																	0													65	72	70					9																	114304503		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1288G>A	9.37:g.114304503G>A	ENSP00000311679:p.Glu430Lys		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E430K	ENST00000309235.5	37	c.1288	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658363	0.47467	.	.	ENSG00000173258	ENST00000309235	T	0.04706	3.57	4.54	-0.57	0.11753	.	0.664334	0.13587	N	0.376867	T	0.01627	0.0052	N	0.01631	-0.79	0.30465	N	0.773911	B	0.09022	0.002	B	0.15052	0.012	T	0.39375	-0.9617	10	0.33940	T	0.23	-6.6765	4.8071	0.13325	0.5006:0.1629:0.3365:0.0	.	430	Q8TF39	ZN483_HUMAN	K	430	ENSP00000311679:E430K	ENSP00000311679:E430K	E	+	1	0	ZNF483	113344324	0.000000	0.05858	0.003000	0.11579	0.089000	0.18198	-0.067000	0.11579	-0.073000	0.12842	-0.145000	0.13849	GAG	ZNF483	-	NULL		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	G	XM_088567		114304503	1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	0.106	A	A	114304503	G	A	114304503	3	1	160	1	0	0	0	0	1	0	0	0	17966	1291	45	1	1306	1	ZNF483	9	114304503	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2285798	114304503	26908928	1122	29395										
ZFP37	7539	genome.wustl.edu	37	chr9	115805337	115805337	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttaaagcctttcccacattGattacattcaaagggacttt	5	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:115805337G>A	ENST00000374227.3	-	4	1588	c.1561C>T	c.(1561-1563)Caa>Taa	p.Q521*	ZFP37_ENST00000555206.1_Nonsense_Mutation_p.Q522*|ZFP37_ENST00000553380.1_Nonsense_Mutation_p.Q536*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCCACATTGATTACATTCA	0.383																																																	0													67	66	66					9																	115805337		2203	4300	6503	SO:0001587	stop_gained	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1561C>T	9.37:g.115805337G>A	ENSP00000363344:p.Gln521*		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q536*	ENST00000374227.3	37	c.1606	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044022	0.75732	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	.	.	.	4.32	4.32	0.51571	.	0.171912	0.28072	N	0.016704	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.1731	10.6022	0.45373	0.0:0.1948:0.8052:0.0	.	.	.	.	X	521;522;536	.	ENSP00000363344:Q521X	Q	-	1	0	ZFP37	114845158	0.000000	0.05858	0.994000	0.49952	0.998000	0.95712	0.548000	0.23314	2.681000	0.91329	0.655000	0.94253	CAA	ZFP37	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	G	NM_003408		115805337	-1	no_errors	ENST00000553380	ensembl	human	known	70_37	nonsense	SNP	0.537	A	A	115805337	G	A	115805337	4	1	160	1	0	0	0	0	0	1	0	0	17678	1299	45	1	335	1	ZFP37	9	115805337	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1500834	115805337	25408094	1123	29396										
FKBP15	23307	genome.wustl.edu	37	chr9	115932861	115932861	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgtaagattcctccagctCaaactctctccgtaaggact	6	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:115932861C>G	ENST00000238256.3	-	25	2824	c.2707G>C	c.(2707-2709)Gag>Cag	p.E903Q		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	903					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCCTCCAGCTCAAACTCTCTC	0.448																																																	0													199	193	195					9																	115932861		1942	4153	6095	SO:0001583	missense	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2707G>C	9.37:g.115932861C>G	ENSP00000238256:p.Glu903Gln		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.E903Q	ENST00000238256.3	37	c.2707	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833118	0.71258	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.27256	1.68;1.69	5.86	5.86	0.93980	.	.	.	.	.	T	0.44561	0.1299	M	0.70275	2.135	0.36003	D	0.83749	P;P	0.51537	0.946;0.911	P;B	0.52672	0.706;0.311	T	0.54430	-0.8295	9	0.72032	D	0.01	-6.7448	17.674	0.88225	0.0:1.0:0.0:0.0	.	484;903	B4DVS2;Q5T1M5	.;FKB15_HUMAN	Q	928;903	ENSP00000416158:E928Q;ENSP00000238256:E903Q	ENSP00000238256:E903Q	E	-	1	0	FKBP15	114972682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.220000	0.65267	2.777000	0.95525	0.655000	0.94253	GAG	FKBP15	-	NULL		0.448	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		C	NM_015258		115932861	-1	no_errors	ENST00000238256	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115932861	C	G	115932861	3	3	160	1	0	0	0	0	1	0	0	0	5923	835	29	1	968	1	FKBP15	9	115932861	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	127524	115932861	25280570	1124	29397										
WDR31	114987	genome.wustl.edu	37	chr9	116093370	116093370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaaagctttagtttgaattCtctcttctataatttcatca	4	7	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116093370C>T	ENST00000374193.4	-	4	389	c.143G>A	c.(142-144)aGa>aAa	p.R48K	WDR31_ENST00000374195.3_Intron|WDR31_ENST00000341761.4_Missense_Mutation_p.R47K|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	48										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTTTGAATTCTCTCTTCTAT	0.478																																																	0													66	70	69					9																	116093370		2203	4300	6503	SO:0001583	missense	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.143G>A	9.37:g.116093370C>T	ENSP00000363308:p.Arg48Lys		Q5W0T9|Q96EG8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R48K	ENST00000374193.4	37	c.143	CCDS35110.1	9	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800570	0.16397	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66460	-0.16;-0.21	5.63	0.0167	0.14109	.	0.481777	0.24490	N	0.038068	T	0.46268	0.1384	L	0.27053	0.805	0.54753	D	0.999981	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.13683	-1.0500	10	0.29301	T	0.29	-8.6208	7.3901	0.26905	0.0:0.5101:0.1142:0.3757	.	48;47	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	K	48;47	ENSP00000363308:R48K;ENSP00000345027:R47K	ENSP00000345027:R47K	R	-	2	0	WDR31	115133191	0.005000	0.15991	0.181000	0.23098	0.981000	0.71138	-0.148000	0.10219	0.069000	0.16605	-0.258000	0.10820	AGA	WDR31	-	NULL		0.478	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	C	NM_145241		116093370	-1	no_errors	ENST00000374193	ensembl	human	known	70_37	missense	SNP	0.014	T	T	116093370	C	T	116093370	3	4	160	1	0	0	0	0	1	0	0	0	17317	913	32	1	992	1	WDR31	9	116093370	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	160509	116093370	25120061	1125	29398										
RGS3	5998	genome.wustl.edu	37	chr9	116224348	116224348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctctacatcctgtggcttGagcctgagcttgcccatatt	8	13	1	2	rs201071186		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116224348G>C	ENST00000374140.2	+	4	491	c.282G>C	c.(280-282)ttG>ttC	p.L94F	RGS3_ENST00000317613.6_5'Flank|RGS3_ENST00000350696.5_Missense_Mutation_p.L94F	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	94					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGTGGCTTGAGCCTGAGCT	0.552																																																	0													130	131	131					9																	116224348		2151	4254	6405	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.282G>C	9.37:g.116224348G>C	ENSP00000363255:p.Leu94Phe		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L94F	ENST00000374140.2	37	c.282	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027185	0.54683	.	.	ENSG00000138835	ENST00000374140;ENST00000350696	T;T	0.50001	0.76;0.76	3.81	0.9	0.19278	.	0.841724	0.09466	U	0.798261	T	0.29158	0.0725	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27536	-1.0071	10	0.87932	D	0	.	3.4621	0.07536	0.248:0.2172:0.5348:0.0	.	94	P49796	RGS3_HUMAN	F	94	ENSP00000363255:L94F;ENSP00000259406:L94F	ENSP00000259406:L94F	L	+	3	2	RGS3	115264169	0.059000	0.20769	0.010000	0.14722	0.376000	0.30014	0.066000	0.14489	0.190000	0.20209	-0.226000	0.12346	TTG	RGS3	-	NULL		0.552	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116224348	1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	0.015	C	C	116224348	G	C	116224348	3	2	160	1	0	0	0	0	1	0	0	0	13336	1281	45	1	292	1	RGS3	9	116224348	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	130978	116224348	24989083	1126	29399										
RGS3	5998	genome.wustl.edu	37	chr9	116356554	116356554	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaaggtggggggccctacaGagatgctccgaggcatgtac	15	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116356554G>C	ENST00000374140.2	+	23	3289				RGS3_ENST00000462403.1_Missense_Mutation_p.E119Q|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGCCCTACAGAGATGCTCCG	0.652																																																	0													38	46	44					9																	116356554		2202	4298	6500	SO:0001627	intron_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-156G>C	9.37:g.116356554G>C			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E119Q	ENST00000374140.2	37	c.355	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462162	0.63513	.	.	ENSG00000138835	ENST00000462403	T	0.58358	0.34	5.23	5.23	0.72850	.	.	.	.	.	T	0.43322	0.1242	N	0.22421	0.69	0.80722	D	1	P	0.45348	0.856	B	0.42319	0.383	T	0.49899	-0.8890	9	0.72032	D	0.01	.	15.584	0.76468	0.0:0.0:1.0:0.0	.	119	Q5VZ06	.	Q	119	ENSP00000436168:E119Q	ENSP00000436168:E119Q	E	+	1	0	RGS3	115396375	1.000000	0.71417	0.823000	0.32752	0.963000	0.63663	6.055000	0.71103	2.442000	0.82660	0.558000	0.71614	GAG	RGS3	-	NULL		0.652	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116356554	1	no_errors	ENST00000462403	ensembl	human	known	70_37	missense	SNP	0.970	C	C	116356554	G	C	116356554	1	2	160	0	1	0	0	0	0	0	0	0	13336	943	33	1		1	RGS3	9	116356554	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	132206	116356554	24856877	1127	29400										
RGS3	5998	genome.wustl.edu	37	chr9	116356797	116356797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgggcaaggcagacaaaatGatgaagtcattcaagtaggt	13	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:116356797G>C	ENST00000374140.2	+	23	3377	c.3168G>C	c.(3166-3168)atG>atC	p.M1056I	RGS3_ENST00000462403.1_Missense_Mutation_p.M169I|RGS3_ENST00000394646.3_Missense_Mutation_p.M449I|RGS3_ENST00000343817.5_Missense_Mutation_p.M775I|RGS3_ENST00000342620.5_Missense_Mutation_p.M26I|RGS3_ENST00000462143.1_Missense_Mutation_p.M377I|RGS3_ENST00000374134.3_Missense_Mutation_p.M377I|RGS3_ENST00000350696.5_Missense_Mutation_p.M1056I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1056					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGACAAAATGATGAAGTCAT	0.592																																																	0													51	60	57					9																	116356797		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3168G>C	9.37:g.116356797G>C	ENSP00000363255:p.Met1056Ile		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.M1056I	ENST00000374140.2	37	c.3168	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750226	0.30955	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000467805;ENST00000462403	T;T;T;T;T;T;T;T;T	0.76060	0.97;0.97;0.47;-0.0;0.46;0.61;0.46;-0.99;0.54	5.15	3.29	0.37713	.	0.707278	0.13509	N	0.382650	T	0.57388	0.2050	N	0.22421	0.69	0.22468	N	0.999079	B;B;B;B;B;B	0.18461	0.0;0.008;0.009;0.021;0.005;0.028	B;B;B;B;B;B	0.15052	0.002;0.003;0.012;0.012;0.005;0.009	T	0.40384	-0.9566	10	0.22109	T	0.4	.	8.1021	0.30863	0.1908:0.0:0.8092:0.0	.	449;169;952;775;946;1056	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	I	1056;1056;775;449;224;377;26;377;222;169	ENSP00000363255:M1056I;ENSP00000259406:M1056I;ENSP00000340284:M775I;ENSP00000378141:M449I;ENSP00000420356:M377I;ENSP00000343359:M26I;ENSP00000363249:M377I;ENSP00000417994:M222I;ENSP00000436168:M169I	ENSP00000343359:M26I	M	+	3	0	RGS3	115396618	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	0.980000	0.29513	0.556000	0.29098	0.650000	0.86243	ATG	RGS3	-	NULL		0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116356797	1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	1.000	C	C	116356797	G	C	116356797	3	2	160	1	0	0	0	0	1	0	0	0	13336	1290	45	1	3930	1	RGS3	9	116356797	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	243	116356797	24856634	1128	29401										
COL27A1	85301	genome.wustl.edu	37	chr9	117037965	117037965	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaggggagacccagggcctGatggagaacatggcgagaaa	16	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:117037965G>C	ENST00000356083.3	+	37	4025	c.3634G>C	c.(3634-3636)Gat>Cat	p.D1212H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1212	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCAGGGCCTGATGGAGAACA	0.637																																																	0													25	22	23					9																	117037965		1945	3822	5767	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3634G>C	9.37:g.117037965G>C	ENSP00000348385:p.Asp1212His		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.D1212H	ENST00000356083.3	37	c.3634	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283251	0.40394	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93763	-3.28	4.83	4.83	0.62350	.	.	.	.	.	D	0.94968	0.8372	L	0.52266	1.64	0.41217	D	0.986484	D	0.89917	1.0	D	0.74674	0.984	D	0.94827	0.7992	9	0.51188	T	0.08	.	13.7885	0.63123	0.0:0.0:1.0:0.0	.	1212	Q8IZC6	CORA1_HUMAN	H	1212	ENSP00000348385:D1212H	ENSP00000348385:D1212H	D	+	1	0	COL27A1	116077786	1.000000	0.71417	0.971000	0.41717	0.655000	0.38815	5.937000	0.70162	2.387000	0.81309	0.462000	0.41574	GAT	COL27A1	-	NULL		0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	G	NM_032888		117037965	1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	0.993	C	C	117037965	G	C	117037965	3	2	160	1	0	0	0	0	1	0	0	0	3690	1290	45	1	3780	1	COL27A1	9	117037965	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	681168	117037965	24175466	1129	29402										
AKNA	80709	genome.wustl.edu	37	chr9	117103902	117103902	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggggcgctgttgccagataCcacagtccggggggtgggcg	20	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:117103902C>T	ENST00000307564.4	-	21	4139	c.3978G>A	c.(3976-3978)tgG>tgA	p.W1326*	AKNA_ENST00000374075.5_Nonsense_Mutation_p.W1245*|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Nonsense_Mutation_p.W271*|AKNA_ENST00000374088.3_Nonsense_Mutation_p.W1326*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.W786*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1326					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTGCCAGATACCACAGTCCGG	0.622																																																	0													56	62	60					9																	117103902		2203	4300	6503	SO:0001587	stop_gained	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3978G>A	9.37:g.117103902C>T	ENSP00000303769:p.Trp1326*		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.W1326*	ENST00000307564.4	37	c.3978	CCDS6805.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.170662|10.170662	0.99352|0.99352	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.56097	.|D	.|0.000037	T|.	0.36386|.	0.0965|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29150|.	-1.0021|.	4|.	0.87932|0.02654	D|T	0|1	-18.9062|-18.9062	15.2568|15.2568	0.73591|0.73591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	337|1326;271;1326;786;1245	.|.	ENSP00000314538:G337D|ENSP00000223791:W786X	G|W	-|-	2|3	0|0	AKNA|AKNA	116143723|116143723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.486000|0.486000	0.33341|0.33341	4.231000|4.231000	0.58639|0.58639	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGT|TGG	AKNA	-	NULL		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117103902	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	117103902	C	T	117103902	4	4	160	1	0	0	0	0	0	1	0	0	463	508	18	4	349	4	AKNA	9	117103902	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	65937	117103902	24109529	1130	29403										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123165171	123165171	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcctctgtccctggctgatCtgtttgagcagggcctcata	11	12	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:123165171C>T	ENST00000349780.4	-	34	5399	c.5220G>A	c.(5218-5220)caG>caA	p.Q1740Q	CDK5RAP2_ENST00000360822.3_Silent_p.Q1708Q|CDK5RAP2_ENST00000359309.3_Silent_p.Q1699Q|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Silent_p.Q1661Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1740	Interaction with CDK5R1. {ECO:0000250}.|Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTGGCTGATCTGTTTGAGCA	0.577																																																	0													71	70	70					9																	123165171		2203	4300	6503	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5220G>A	9.37:g.123165171C>T			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.Q1740	ENST00000349780.4	37	c.5220	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL		0.577	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123165171	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	silent	SNP	1.000	T	T	123165171	C	T	123165171	2	4	160	1	0	0	0	0	0	0	0	1	3151	912	32	1		1	CDK5RAP2	9	123165171	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6061269	123165171	18048260	1131	29404										
GSN	2934	genome.wustl.edu	37	chr9	124086857	124086857	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcccagtctacccaggatGaggtcgctgcatctgccatc	11	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:124086857G>C	ENST00000373818.4	+	11	1573	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	GSN_ENST00000373806.1_5'Flank|GSN_ENST00000341272.2_Missense_Mutation_p.E451Q|GSN_ENST00000373823.3_Missense_Mutation_p.E451Q|GSN_ENST00000373807.1_Missense_Mutation_p.E233Q|GSN_ENST00000373808.2_Missense_Mutation_p.E451Q|GSN_ENST00000449733.1_Missense_Mutation_p.E451Q|GSN_ENST00000394353.2_Missense_Mutation_p.E462Q|GSN_ENST00000545652.1_Missense_Mutation_p.E459Q|GSN_ENST00000436847.1_Missense_Mutation_p.E462Q|GSN_ENST00000412819.1_Missense_Mutation_p.E451Q	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	502	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TACCCAGGATGAGGTCGCTGC	0.627																																																	0													64	41	49					9																	124086857		2169	4204	6373	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1504G>C	9.37:g.124086857G>C	ENSP00000362924:p.Glu502Gln		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.E502Q	ENST00000373818.4	37	c.1504	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171924	0.78452	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.63	3.73	0.42828	Gelsolin domain (1);	0.054601	0.64402	D	0.000001	T	0.63546	0.2520	H	0.97707	4.06	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.999;0.97;0.999;1.0;0.998	D;P;D;D;D	0.80764	0.992;0.741;0.992;0.994;0.941	T	0.74940	-0.3493	10	0.66056	D	0.02	-24.2112	11.9368	0.52878	0.0865:0.0:0.9135:0.0	.	475;459;462;233;502	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	Q	451;462;462;451;451;451;451;435;425;459;502;233	ENSP00000362929:E451Q;ENSP00000411293:E462Q;ENSP00000377882:E462Q;ENSP00000409358:E451Q;ENSP00000416586:E451Q;ENSP00000340888:E451Q;ENSP00000362914:E451Q;ENSP00000445823:E459Q;ENSP00000362924:E502Q;ENSP00000362913:E233Q	ENSP00000340888:E451Q	E	+	1	0	GSN	123126678	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.385000	0.97223	1.075000	0.40932	0.650000	0.86243	GAG	GSN	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin		0.627	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	G	NM_000177		124086857	1	no_errors	ENST00000373818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	124086857	G	C	124086857	3	2	160	1	0	0	0	0	1	0	0	0	6845	1291	45	1	1574	1	GSN	9	124086857	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	921686	124086857	17126574	1132	29405										
TTLL11	158135	genome.wustl.edu	37	chr9	124751992	124751992	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaccctgacaaccaccatCaggtttcacgataaaagtgg	7	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:124751992C>G	ENST00000373776.3	-	4	1208	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	TTLL11_ENST00000321582.5_Missense_Mutation_p.D341H|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	341	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAACCACCATCAGGTTTCACG	0.527																																																	0													119	128	125					9																	124751992		2203	4300	6503	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1021G>C	9.37:g.124751992C>G	ENSP00000362881:p.Asp341His			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D341H	ENST00000373776.3	37	c.1021	CCDS6834.2	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165951	0.78339	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05447	3.44;3.44	4.89	4.89	0.63831	.	0.125081	0.51477	D	0.000100	T	0.30823	0.0777	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.17289	-1.0374	10	0.62326	D	0.03	.	17.1382	0.86745	0.0:1.0:0.0:0.0	.	341;341	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	341	ENSP00000321346:D341H;ENSP00000362881:D341H	ENSP00000321346:D341H	D	-	1	0	TTLL11	123791813	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.484000	0.81180	2.283000	0.76528	0.549000	0.68633	GAT	TTLL11	-	pfam_Tub_tyr_ligase		0.527	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1	C	XM_088486		124751992	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124751992	C	G	124751992	3	3	160	1	0	0	0	0	1	0	0	0	16755	826	29	1	1483	1	TTLL11	9	124751992	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	665135	124751992	16461439	1133	29406										
OR1Q1	158131	genome.wustl.edu	37	chr9	125377527	125377527	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccaactaatcttctgtgcaGataacagaatcccccacttc	5	14	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:125377527G>C	ENST00000297913.2	+	1	580	c.511G>C	c.(511-513)Gat>Cat	p.D171H	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	171					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTCTGTGCAGATAACAGAAT	0.488																																																	0													180	162	168					9																	125377527		2203	4300	6503	SO:0001583	missense	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.511G>C	9.37:g.125377527G>C	ENSP00000297913:p.Asp171His		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D171H	ENST00000297913.2	37	c.511	CCDS35125.1	9	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271312	0.10349	.	.	ENSG00000165202	ENST00000297913	T	0.37235	1.21	5.57	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.404229	0.20927	N	0.083171	T	0.23688	0.0573	N	0.13140	0.3	0.09310	N	1	P	0.50819	0.939	P	0.52066	0.689	T	0.05599	-1.0875	10	0.27785	T	0.31	-1.6638	2.0796	0.03631	0.1464:0.1987:0.4233:0.2315	.	171	Q15612	OR1Q1_HUMAN	H	171	ENSP00000297913:D171H	ENSP00000297913:D171H	D	+	1	0	OR1Q1	124417348	0.000000	0.05858	0.063000	0.19743	0.100000	0.18952	-0.504000	0.06375	0.444000	0.26612	0.650000	0.86243	GAT	OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	G			125377527	1	no_errors	ENST00000297913	ensembl	human	known	70_37	missense	SNP	0.000	C	C	125377527	G	C	125377527	3	2	160	1	0	0	0	0	1	0	0	0	10995	942	33	1	513	1	OR1Q1	9	125377527	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	625535	125377527	15835904	1134	29407										
OR1L1	26737	genome.wustl.edu	37	chr9	125424911	125424911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttggcaaagttgatgcacaGgatgaaatgtcagtaaaaga	11	4	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:125424911G>C	ENST00000373686.1	+	1	1067	c.1067G>C	c.(1066-1068)aGg>aCg	p.R356T	OR1L1_ENST00000309623.1_Missense_Mutation_p.R306T			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTGATGCACAGGATGAAATGT	0.383																																																	0													79	73	75					9																	125424911		2203	4299	6502	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.1067G>C	9.37:g.125424911G>C	ENSP00000362790:p.Arg356Thr		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R356T	ENST00000373686.1	37	c.1067		9	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991078	0.18966	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.39592	1.07;1.07	3.26	-1.0	0.10196	.	.	.	.	.	T	0.31358	0.0794	L	0.41492	1.28	0.09310	N	1	B	0.30146	0.27	B	0.34991	0.193	T	0.38178	-0.9673	9	0.87932	D	0	.	3.6731	0.08281	0.3468:0.0:0.4746:0.1785	.	356	Q8NH94	OR1L1_HUMAN	T	356;306	ENSP00000362790:R356T;ENSP00000310773:R306T	ENSP00000310773:R306T	R	+	2	0	OR1L1	124464732	.	.	0.000000	0.03702	0.036000	0.12997	.	.	-0.097000	0.12307	0.313000	0.20887	AGG	OR1L1	-	NULL		0.383	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	HGNC	protein_coding		G			125424911	1	no_errors	ENST00000373686	ensembl	human	known	70_37	missense	SNP	0.000	C	C	125424911	G	C	125424911	3	2	160	1	0	0	0	0	1	0	0	0	10987	1000	35	4	919	4	OR1L1	9	125424911	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	47384	125424911	15788520	1135	29408										
ZBTB6	10773	genome.wustl.edu	37	chr9	125673859	125673859	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggactatcttctgaaatttCaattatctcacagtctttat	4	8	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:125673859C>T	ENST00000373659.3	-	2	581	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCTGAAATTTCAATTATCTCA	0.353																																																	0													53	53	53					9																	125673859		2203	4299	6502	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.493G>A	9.37:g.125673859C>T	ENSP00000362763:p.Glu165Lys		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E165K	ENST00000373659.3	37	c.493	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349187	0.41599	.	.	ENSG00000186130	ENST00000373659	T	0.09073	3.02	5.96	5.96	0.96718	.	0.199745	0.41500	D	0.000880	T	0.12050	0.0293	L	0.57536	1.79	0.45295	D	0.998293	P	0.43826	0.818	B	0.41135	0.348	T	0.15037	-1.0451	10	0.09338	T	0.73	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	165	Q15916	ZBTB6_HUMAN	K	165	ENSP00000362763:E165K	ENSP00000362763:E165K	E	-	1	0	ZBTB6	124713680	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	2.311000	0.43717	2.832000	0.97577	0.655000	0.94253	GAA	ZBTB6	-	NULL		0.353	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	C	NM_006626		125673859	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125673859	C	T	125673859	3	4	160	1	0	0	0	0	1	0	0	0	17582	835	29	1	785	1	ZBTB6	9	125673859	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	248948	125673859	15539572	1136	29409										
GAPVD1	26130	genome.wustl.edu	37	chr9	128113141	128113141	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactgctggcttcgattgctGaggactacaggtaatatacc	10	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:128113141G>A	ENST00000495955.1	+	23	3903	c.3613G>A	c.(3613-3615)Gag>Aag	p.E1205K	GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1205K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1214K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1139K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1179K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1166K|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E1160K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1187K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1205					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTCGATTGCTGAGGACTACAG	0.383																																																	0													119	115	116					9																	128113141		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3613G>A	9.37:g.128113141G>A	ENSP00000419063:p.Glu1205Lys		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.E1214K	ENST00000495955.1	37	c.3640		9	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759402	0.89932	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B	0.32425	0.255;0.226;0.371;0.371;0.371;0.244	B;B;B;B;B;B	0.41374	0.194;0.103;0.355;0.355;0.355;0.355	T	0.65512	-0.6150	9	0.56958	D	0.05	.	18.6035	0.91257	0.0:0.0:1.0:0.0	.	1205;220;1160;1166;1187;1214	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	K	1160;1214;1205;1179;1139;1205;1187;1166	.	ENSP00000265956:E1179K	E	+	1	0	GAPVD1	127152962	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.869000	0.99810	2.630000	0.89119	0.555000	0.69702	GAG	GAPVD1	-	NULL		0.383	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	G			128113141	1	no_errors	ENST00000394105	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128113141	G	A	128113141	3	1	160	1	0	0	0	0	1	0	0	0	6258	1291	45	1	3722	1	GAPVD1	9	128113141	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2439282	128113141	13100290	1137	29410										
CIZ1	25792	genome.wustl.edu	37	chr9	130931345	130931345	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcacctgcttgcagagttCctcctcaacctcgatctctt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:130931345C>T	ENST00000393608.1	-	14	2483	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Missense_Mutation_p.E761K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E733K|CIZ1_ENST00000277465.4_Missense_Mutation_p.E733K|CIZ1_ENST00000538431.1_Missense_Mutation_p.E787K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E705K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E681K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E732K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E660K	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	761	Glu-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTGCAGAGTtcctcctcaacc	0.582																																																	0													203	188	193					9																	130931345		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2281G>A	9.37:g.130931345C>T	ENSP00000377232:p.Glu761Lys		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E787K	ENST00000393608.1	37	c.2359	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507220	0.85282	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.38;1.45;1.53;1.37;1.8;1.53;1.21;1.38;1.96	5.81	4.91	0.64330	.	0.586313	0.15402	N	0.264243	T	0.49029	0.1533	L	0.36672	1.1	0.31052	N	0.715079	D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;0.999;0.993;0.999	D;D;D;D;D;P;D	0.81914	0.987;0.97;0.98;0.995;0.937;0.86;0.937	T	0.46925	-0.9156	10	0.51188	T	0.08	-12.4293	12.7288	0.57187	0.0:0.9226:0.0:0.0774	.	787;700;705;681;761;732;733	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	681;761;787;733;732;700;660;733;705;761;683	ENSP00000362045:E681K;ENSP00000377232:E761K;ENSP00000439244:E787K;ENSP00000350169:E733K;ENSP00000320374:E732K;ENSP00000445057:E660K;ENSP00000277465:E733K;ENSP00000362039:E705K;ENSP00000362029:E761K;ENSP00000398011:E683K	ENSP00000277465:E733K	E	-	1	0	CIZ1	129971166	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.563000	0.60823	2.757000	0.94681	0.462000	0.41574	GAA	CIZ1	-	NULL		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130931345	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.985	T	T	130931345	C	T	130931345	3	4	160	1	0	0	0	0	1	0	0	0	3446	864	30	1	431	1	CIZ1	9	130931345	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2818204	130931345	10282086	1138	29411	187	2								
CIZ1	25792	genome.wustl.edu	37	chr9	130931351	130931351	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcttgcagagttcctcctCaacctcgatctcttcttcat							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:130931351C>T	ENST00000393608.1	-	14	2477	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Missense_Mutation_p.E759K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E731K|CIZ1_ENST00000277465.4_Missense_Mutation_p.E731K|CIZ1_ENST00000538431.1_Missense_Mutation_p.E785K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E703K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E679K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E730K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E658K	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	759	Glu-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTtcctcctcaacctcgatc	0.582																																																	0													217	200	206					9																	130931351		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2275G>A	9.37:g.130931351C>T	ENSP00000377232:p.Glu759Lys		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E785K	ENST00000393608.1	37	c.2353	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523530	0.64747	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.4;1.47;1.55;1.39;1.81;1.55;1.23;1.4;1.96	5.81	3.59	0.41128	.	0.877777	0.09647	N	0.774160	T	0.42877	0.1222	L	0.40543	1.245	0.23685	N	0.997115	P;P;P;P;P;P;P	0.49253	0.847;0.908;0.921;0.905;0.85;0.715;0.85	B;P;P;P;B;P;B	0.54401	0.4;0.5;0.751;0.676;0.429;0.469;0.429	T	0.20940	-1.0260	10	0.29301	T	0.29	-15.8344	10.9939	0.47565	0.1325:0.7897:0.0:0.0778	.	785;698;703;679;759;730;731	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	679;759;785;731;730;698;658;731;703;759;681	ENSP00000362045:E679K;ENSP00000377232:E759K;ENSP00000439244:E785K;ENSP00000350169:E731K;ENSP00000320374:E730K;ENSP00000445057:E658K;ENSP00000277465:E731K;ENSP00000362039:E703K;ENSP00000362029:E759K;ENSP00000398011:E681K	ENSP00000277465:E731K	E	-	1	0	CIZ1	129971172	0.996000	0.38824	0.968000	0.41197	0.927000	0.56198	4.356000	0.59430	1.417000	0.47077	0.462000	0.41574	GAG	CIZ1	-	NULL		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130931351	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.413	T	T	130931351	C	T	130931351	3	4	160	1	0	0	0	0	1	0	0	0	3446	835	29	1	437	1	CIZ1	9	130931351	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6	130931351	10282080	1139	29412	187	2								
COQ4	26995	genome.wustl.edu	37	chr9	131085386	131085386	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaaagggctgttggccgcCggctccgcggcgatggcgct	17	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131085386C>T	ENST00000372890.4	-	0	0				TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000372875.3_Silent_p.A54A|COQ4_ENST00000609948.1_Silent_p.A54A|TRUB2_ENST00000460320.1_5'Flank|COQ4_ENST00000300452.3_Silent_p.A54A|COQ4_ENST00000608951.1_Silent_p.A54A	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TGTTGGCCGCCGGCTCCGCGG	0.721																																																	0																																										SO:0001631	upstream_gene_variant	51117			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741		9.37:g.131085386C>T	Exception_encountered		B7Z7G5	Silent	SNP	pfam_CoenzQ_biosynthesis_Coq4	p.A54	ENST00000372890.4	37	c.162	CCDS6897.1	9																																																																																			COQ4	-	pfam_CoenzQ_biosynthesis_Coq4		0.721	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ4	HGNC	protein_coding	OTTHUMT00000054419.1	C	NM_015679		131085386	1	no_errors	ENST00000300452	ensembl	human	known	70_37	silent	SNP	0.097	T	T	131085386	C	T	131085386	1	4	160	0	1	0	0	0	0	0	0	0	3752	639	23	2		2	COQ4	9	131085386	5'Flank	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	154035	131085386	10128045	1140	29413										
CERCAM	51148	genome.wustl.edu	37	chr9	131186797	131186797	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttgcatccctgcgggctGaaggggcagaccagcttgct	13	13	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131186797G>A	ENST00000372838.4	+	5	1068	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	CERCAM_ENST00000372842.1_Missense_Mutation_p.E146K	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	224					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTGCGGGCTGAAGGGGCAGA	0.627																																																	0													114	99	104					9																	131186797		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.670G>A	9.37:g.131186797G>A	ENSP00000361929:p.Glu224Lys		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.E224K	ENST00000372838.4	37	c.670	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389272	0.42410	.	.	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.20200	2.09;2.09;2.09	5.43	1.43	0.22495	.	0.222920	0.44902	N	0.000409	T	0.15912	0.0383	L	0.52206	1.635	0.44694	D	0.997686	B	0.06786	0.001	B	0.06405	0.002	T	0.08493	-1.0719	10	0.24483	T	0.36	-10.7502	6.8774	0.24155	0.2198:0.1254:0.6548:0.0	.	224	Q5T4B2	GT253_HUMAN	K	146;146;224;177	ENSP00000361933:E146K;ENSP00000416676:E146K;ENSP00000361929:E224K	ENSP00000361929:E224K	E	+	1	0	CERCAM	130226618	1.000000	0.71417	0.130000	0.21974	0.579000	0.36224	3.807000	0.55591	0.259000	0.21709	-0.499000	0.04595	GAA	CERCAM	-	NULL		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131186797	1	no_errors	ENST00000372838	ensembl	human	known	70_37	missense	SNP	0.945	A	A	131186797	G	A	131186797	3	1	160	1	0	0	0	0	1	0	0	0	3271	1291	45	1	688	1	CERCAM	9	131186797	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	101411	131186797	10026634	1141	29414										
CERCAM	51148	genome.wustl.edu	37	chr9	131193546	131193546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actctgaccaagggcgaggtGggctgcttcctcagccatta	12	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131193546G>A	ENST00000372838.4	+	9	1565	c.1167G>A	c.(1165-1167)gtG>gtA	p.V389V	CERCAM_ENST00000372842.1_Silent_p.V311V|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	389					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AGGGCGAGGTGGGCTGCTTCC	0.602																																																	0													82	82	82					9																	131193546		2203	4300	6503	SO:0001819	synonymous_variant	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1167G>A	9.37:g.131193546G>A			A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.V389	ENST00000372838.4	37	c.1167	CCDS6901.2	9																																																																																			CERCAM	-	pfam_Glyco_trans_25		0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131193546	1	no_errors	ENST00000372838	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131193546	G	A	131193546	2	1	160	1	0	0	0	0	0	0	0	1	3271	1335	47	4		4	CERCAM	9	131193546	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6749	131193546	10019885	1142	29415										
ODF2	4957	genome.wustl.edu	37	chr9	131222883	131222883	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccttacatgttcacgtggatGagaacacccctgtccacgtc	8	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131222883G>A	ENST00000434106.3	+	4	486				ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Missense_Mutation_p.E16K|ODF2_ENST00000351030.3_Missense_Mutation_p.E16K|ODF2_ENST00000448249.3_Missense_Mutation_p.E16K|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000393527.3_Missense_Mutation_p.E16K|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.E16K|ODF2_ENST00000444119.2_Missense_Mutation_p.E16K|ODF2_ENST00000604420.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TCACGTGGATGAGAACACCCC	0.542																																																	0													139	113	122					9																	131222883		2203	4300	6503	SO:0001627	intron_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.124-338G>A	9.37:g.131222883G>A			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.E16K	ENST00000434106.3	37	c.46	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.201239	0.94997	.	.	ENSG00000136811	ENST00000351030;ENST00000303890;ENST00000448249;ENST00000535026;ENST00000421776;ENST00000444119	T;T;T;T	0.48201	1.78;1.72;0.82;1.72	5.83	5.83	0.93111	.	.	.	.	.	T	0.65059	0.2655	L	0.50333	1.59	0.44201	D	0.997026	D;D;D;D	0.67145	0.986;0.996;0.975;0.986	P;D;P;P	0.73708	0.73;0.981;0.719;0.73	T	0.64407	-0.6415	9	0.62326	D	0.03	.	18.6875	0.91570	0.0:0.0:1.0:0.0	.	16;16;16;16	Q5BJF6-4;Q5BJF6-9;B1AND4;Q5BJF6-3	.;.;.;.	K	16	ENSP00000342581:E16K;ENSP00000307781:E16K;ENSP00000396687:E16K;ENSP00000394506:E16K	ENSP00000307781:E16K	E	+	1	0	ODF2	130262704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.573000	0.74009	2.759000	0.94783	0.561000	0.74099	GAG	ODF2	-	NULL		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131222883	1	no_errors	ENST00000351030	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131222883	G	A	131222883	1	1	160	0	1	0	0	0	0	0	0	0	10851	1291	45	1		1	ODF2	9	131222883	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	29337	131222883	9990548	1143	29416										
ODF2	4957	genome.wustl.edu	37	chr9	131223280	131223280	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcggcggagtgtccgggtGaaaaccaaggtaccttggat	16	8	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131223280G>C	ENST00000434106.3	+	4	546	c.183G>C	c.(181-183)gtG>gtC	p.V61V	ODF2_ENST00000393533.2_Silent_p.V61V|ODF2_ENST00000535026.1_Silent_p.V56V|ODF2_ENST00000351030.3_Silent_p.V56V|ODF2_ENST00000448249.3_Silent_p.V56V|ODF2_ENST00000372791.3_Silent_p.V61V|ODF2_ENST00000372814.3_Silent_p.V105V|ODF2_ENST00000393527.3_Silent_p.V56V|ODF2_ENST00000546203.1_Silent_p.V61V|ODF2_ENST00000372807.5_Silent_p.V56V|ODF2_ENST00000444119.2_Silent_p.V56V|ODF2_ENST00000604420.1_Silent_p.V61V	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	61					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCCGGGTGAAAACCAAGG	0.567																																																	0													114	106	109					9																	131223280		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.183G>C	9.37:g.131223280G>C			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	NULL	p.V61	ENST00000434106.3	37	c.183	CCDS56588.1	9																																																																																			ODF2	-	NULL		0.567	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131223280	1	no_errors	ENST00000372796	ensembl	human	known	70_37	silent	SNP	1.000	C	C	131223280	G	C	131223280	2	2	160	1	0	0	0	0	0	0	0	1	10851	1277	45	1		1	ODF2	9	131223280	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	397	131223280	9990151	1144	29417										
SPTAN1	6709	genome.wustl.edu	37	chr9	131395165	131395165	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacgtcaagtccagcgaggaGattgagagcgccttccgggc	14	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131395165G>A	ENST00000372731.4	+	55	7334	c.7224G>A	c.(7222-7224)gaG>gaA	p.E2408E	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Silent_p.E2413E|SPTAN1_ENST00000372739.3_Silent_p.E2413E	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2408	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAGCGAGGAGATTGAGAGCG	0.567																																					NSCLC(120;833 1744 2558 35612 37579)												0													103	105	104					9																	131395165		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7224G>A	9.37:g.131395165G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E2413	ENST00000372731.4	37	c.7239	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_EF-hand_Ca_insen		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131395165	1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131395165	G	A	131395165	2	1	160	1	0	0	0	0	0	0	0	1	15147	933	33	1		1	SPTAN1	9	131395165	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	171885	131395165	9818266	1145	29418										
TBC1D13	54662	genome.wustl.edu	37	chr9	131554812	131554812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agccggtggaacacgtacttCaaggacaacgaggtgctgct	13	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131554812C>G	ENST00000372648.5	+	6	492	c.342C>G	c.(340-342)ttC>ttG	p.F114L	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.F114L|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	114	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACACGTACTTCAAGGACAACG	0.627																																																	0													96	71	80					9																	131554812		2203	4300	6503	SO:0001583	missense	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.342C>G	9.37:g.131554812C>G	ENSP00000361731:p.Phe114Leu		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F114L	ENST00000372648.5	37	c.342	CCDS6911.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219324	0.79464	.	.	ENSG00000107021	ENST00000372648;ENST00000223865	T;T	0.40476	1.03;1.03	4.77	2.89	0.33648	Rab-GAP/TBC domain (3);	0.116985	0.64402	D	0.000018	T	0.58032	0.2094	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	T	0.52866	-0.8518	10	0.34782	T	0.22	-25.1838	9.0358	0.36287	0.0:0.8145:0.0:0.1855	.	114;114	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	L	114	ENSP00000361731:F114L;ENSP00000223865:F114L	ENSP00000223865:F114L	F	+	3	2	TBC1D13	130594633	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.590000	0.53979	0.424000	0.26061	0.561000	0.74099	TTC	TBC1D13	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	C	NM_018201		131554812	1	no_errors	ENST00000372648	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131554812	C	G	131554812	3	3	160	1	0	0	0	0	1	0	0	0	15632	825	29	1	364	1	TBC1D13	9	131554812	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	159647	131554812	9658619	1146	29419										
C9orf114	51490	genome.wustl.edu	37	chr9	131586097	131586097	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcaaagaggacactgggttCagccacctccaggttggggt	14	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:131586097C>T	ENST00000361256.5	-	11	1031	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	331							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						ACACTGGGTTCAGCCACCTCC	0.637																																																	0													52	42	46					9																	131586097		2203	4300	6503	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.991G>A	9.37:g.131586097C>T	ENSP00000354812:p.Glu331Lys		Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.E331K	ENST00000361256.5	37	c.991	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092966	0.76756	.	.	ENSG00000198917	ENST00000361256	T	0.28454	1.61	5.64	4.75	0.60458	.	.	.	.	.	T	0.27629	0.0679	L	0.31664	0.95	0.42356	D	0.99239	P	0.36683	0.565	B	0.40256	0.324	T	0.09185	-1.0686	9	0.59425	D	0.04	0.3703	13.4093	0.60933	0.0:0.9252:0.0:0.0748	.	331	Q5T280	CI114_HUMAN	K	331	ENSP00000354812:E331K	ENSP00000354812:E331K	E	-	1	0	C9orf114	130625918	1.000000	0.71417	0.863000	0.33907	0.963000	0.63663	7.635000	0.83286	1.386000	0.46466	0.462000	0.41574	GAA	C9orf114	-	pfam_Put_MeTrfase		0.637	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	C	NM_016390		131586097	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	missense	SNP	0.994	T	T	131586097	C	T	131586097	3	4	160	1	0	0	0	0	1	0	0	0	2454	835	29	1	147	1	C9orf114	9	131586097	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	31285	131586097	9627334	1147	29420										
C9orf50	375759	genome.wustl.edu	37	chr9	132375857	132375857	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcagggcggccttctggttCacaatgacgctctgttggac	14	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:132375857C>T	ENST00000372478.4	-	5	1101	c.900G>A	c.(898-900)gtG>gtA	p.V300V	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	300										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CCTTCTGGTTCACAATGACGC	0.627																																																	0													67	68	67					9																	132375857		2203	4300	6503	SO:0001819	synonymous_variant	375759			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.900G>A	9.37:g.132375857C>T			Q2M1I2|Q8NA65	Silent	SNP	NULL	p.V300	ENST00000372478.4	37	c.900	CCDS35159.1	9																																																																																			C9orf50	-	NULL		0.627	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	C	NM_199350		132375857	-1	no_errors	ENST00000372478	ensembl	human	known	70_37	silent	SNP	0.000	T	T	132375857	C	T	132375857	2	4	160	1	0	0	0	0	0	0	0	1	2492	813	29	1		1	C9orf50	9	132375857	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	789760	132375857	8837574	1148	29421										
ABL1	25	genome.wustl.edu	37	chr9	133759498	133759498	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcgccttgatcaagaagaaGaagaagacagccccaacccc	9	13	1	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:133759498G>A	ENST00000318560.5	+	11	2202	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	607	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCAAGAAGAAGAAGAAGACAG	0.607			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													73	84	80					9																	133759498		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1821G>A	9.37:g.133759498G>A			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K626	ENST00000318560.5	37	c.1878	CCDS35166.1	9																																																																																			ABL1	-	NULL		0.607	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	G	NM_007313		133759498	1	no_errors	ENST00000372348	ensembl	human	known	70_37	silent	SNP	1.000	A	A	133759498	G	A	133759498	2	1	160	1	0	0	0	0	0	0	0	1	92	933	33	1		1	ABL1	9	133759498	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1383641	133759498	7453933	1149	29422										
LAMC3	10319	genome.wustl.edu	37	chr9	133963004	133963004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacaggagctggaggaagctGagcgggtacgtttgccaggg	19	7	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:133963004G>A	ENST00000361069.4	+	26	4505	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1458	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGAGGAAGCTGAGCGGGTACG	0.657																																																	0													66	72	70					9																	133963004		2203	4300	6503	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4372G>A	9.37:g.133963004G>A	ENSP00000354360:p.Glu1458Lys		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1458K	ENST00000361069.4	37	c.4372	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219312	0.09863	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27557	1.66	4.74	2.82	0.32997	.	0.627251	0.15165	N	0.276969	T	0.19644	0.0472	L	0.33485	1.01	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.14023	0.01;0.008	T	0.24548	-1.0157	10	0.21014	T	0.42	.	5.9698	0.19346	0.2526:0.0:0.7474:0.0	.	139;1458	Q9UF61;Q9Y6N6	.;LAMC3_HUMAN	K	1458;1470	ENSP00000354360:E1458K	ENSP00000347156:E1470K	E	+	1	0	LAMC3	132952825	0.003000	0.15002	0.126000	0.21872	0.207000	0.24258	0.750000	0.26334	0.542000	0.28846	0.563000	0.77884	GAG	LAMC3	-	NULL		0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133963004	1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.277	A	A	133963004	G	A	133963004	3	1	160	1	0	0	0	0	1	0	0	0	8636	1291	45	1	4474	1	LAMC3	9	133963004	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	203506	133963004	7250427	1150	29423										
RAPGEF1	2889	genome.wustl.edu	37	chr9	134503309	134503309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcggctcacctagtgtttCacagcttgtgttccgggagc	13	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:134503309C>T	ENST00000372189.3	-	9	1264	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E399K|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E398K|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	381					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCTAGTGTTTCACAGCTTGTG	0.597																																																	0													46	53	50					9																	134503309		2159	4258	6417	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1141G>A	9.37:g.134503309C>T	ENSP00000361263:p.Glu381Lys		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E399K	ENST00000372189.3	37	c.1195	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.401962	0.96030	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.47177	0.85;0.85;0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.64997	1.995	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	P;P;D	0.65874	0.87;0.87;0.939	T	0.59337	-0.7473	10	0.24483	T	0.36	.	17.5942	0.88006	0.0:1.0:0.0:0.0	.	398;381;399	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	K	381;398;275;381;399;361;307;76;398	ENSP00000361269:E398K;ENSP00000361263:E381K;ENSP00000361264:E399K	ENSP00000266110:E381K	E	-	1	0	RAPGEF1	133493130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.239000	0.78182	2.389000	0.81357	0.591000	0.81541	GAA	RAPGEF1	-	NULL		0.597	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	C	NM_005312		134503309	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134503309	C	T	134503309	3	4	160	1	0	0	0	0	1	0	0	0	13073	835	29	1	2156	1	RAPGEF1	9	134503309	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	540305	134503309	6710122	1151	29424										
C9orf98	158067	genome.wustl.edu	37	chr9	135702440	135702440	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaaaggtggtgtgataaatCtctacaaggagagaggtgca	13	5	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:135702440C>G	ENST00000298545.3	-	8	1079	c.558G>C	c.(556-558)gaG>gaC	p.E186D	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	186	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGTGATAAATCTCTACAAGGA	0.582																																																	0													106	105	105					9																	135702440		2203	4300	6503	SO:0001630	splice_region_variant	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.557-1G>C	9.37:g.135702440C>G			A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.E186D	ENST00000298545.3	37	c.558	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735319	0.15574	.	.	ENSG00000165695	ENST00000298545	T	0.67865	-0.29	5.34	2.5	0.30297	Adenylate kinase, active site lid domain (1);	0.102279	0.64402	D	0.000003	T	0.47469	0.1447	L	0.27944	0.81	0.36788	D	0.884702	B	0.16166	0.016	B	0.20955	0.032	T	0.37430	-0.9706	10	0.11794	T	0.64	.	9.1825	0.37149	0.0:0.7656:0.0:0.2344	.	186	Q96MA6	KAD8_HUMAN	D	186	ENSP00000298545:E186D	ENSP00000298545:E186D	E	-	3	2	AK8	134692261	0.998000	0.40836	1.000000	0.80357	0.712000	0.41017	0.336000	0.19823	0.635000	0.30488	0.455000	0.32223	GAG	AK8	-	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom		0.582	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	C	NM_152572	Missense_Mutation	135702440	-1	no_errors	ENST00000298545	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135702440	C	G	135702440	5	3	160	1	0	0	0	0	0	0	1	0	2514	927	32	1	905	1	C9orf98	9	135702440	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1199131	135702440	5510991	1152	29425										
RPL7A	6130	genome.wustl.edu	37	chr9	136216849	136216849	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agactgttggcccgggccgaGaagaaggctgctggcaaagg	17	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136216849G>A	ENST00000323345.6	+	4	387	c.357G>A	c.(355-357)gaG>gaA	p.E119E	SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000463740.1_3'UTR|MED22_ENST00000344469.5_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000371999.1_5'Flank|RPL7A_ENST00000315731.4_Intron|SURF1_ENST00000495952.1_5'Flank|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000471524.1_5'Flank|SNORD24_ENST00000383884.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	119					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CCCGGGCCGAGAAGAAGGCTG	0.572																																																	0													52	57	55					9																	136216849		2203	4300	6503	SO:0001819	synonymous_variant	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.357G>A	9.37:g.136216849G>A			P11518|Q5T8U4	Silent	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.E119	ENST00000323345.6	37	c.357	CCDS6965.1	9																																																																																			RPL7A	-	NULL		0.572	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	G	NM_000972		136216849	1	no_errors	ENST00000323345	ensembl	human	known	70_37	silent	SNP	1.000	A	A	136216849	G	A	136216849	2	1	160	1	0	0	0	0	0	0	0	1	13630	933	33	1		1	RPL7A	9	136216849	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	514409	136216849	4996582	1153	29426										
SURF2	6835	genome.wustl.edu	37	chr9	136223814	136223814	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgcatcctgacaggtcacGagctgccctgccgcctgccg	13	16	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136223814G>C	ENST00000371964.4	+	2	144	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	SURF1_ENST00000495952.1_5'Flank|SURF1_ENST00000371974.3_5'Flank|SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	35						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GACAGGTCACGAGCTGCCCTG	0.711																																																	0													13	15	15					9																	136223814		2174	4255	6429	SO:0001583	missense	6835				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.103G>C	9.37:g.136223814G>C	ENSP00000361032:p.Glu35Gln		Q6IBP9|Q96CD1	Missense_Mutation	SNP	pfam_Surf2	p.E35Q	ENST00000371964.4	37	c.103	CCDS6967.1	9	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937480	0.73557	.	.	ENSG00000148291	ENST00000371964	T	0.55930	0.49	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	M	0.86953	2.85	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	T	0.81765	-0.0783	10	0.72032	D	0.01	-1.6475	17.027	0.86450	0.0:0.0:1.0:0.0	.	35	Q15527	SURF2_HUMAN	Q	35	ENSP00000361032:E35Q	ENSP00000361032:E35Q	E	+	1	0	SURF2	135213635	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	7.588000	0.82629	2.249000	0.74217	0.462000	0.41574	GAG	SURF2	-	pfam_Surf2		0.711	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1	G	NM_017503		136223814	1	no_errors	ENST00000371964	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136223814	G	C	136223814	3	2	160	1	0	0	0	0	1	0	0	0	15434	1059	37	1	109	1	SURF2	9	136223814	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6965	136223814	4989617	1154	29427										
SURF2	6835	genome.wustl.edu	37	chr9	136227994	136227994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcaaacccaagagcttcagCtcctgtaaacagccaggtta	8	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136227994C>T	ENST00000371964.4	+	6	791	c.750C>T	c.(748-750)agC>agT	p.S250S	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	250						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S250S(1)		breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGAGCTTCAGCTCCTGTAAAC	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											148	150	149					9																	136227994		2203	4300	6503	SO:0001819	synonymous_variant	6835				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.750C>T	9.37:g.136227994C>T			Q6IBP9|Q96CD1	Silent	SNP	pfam_Surf2	p.S250	ENST00000371964.4	37	c.750	CCDS6967.1	9																																																																																			SURF2	-	pfam_Surf2		0.448	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1	C	NM_017503		136227994	1	no_errors	ENST00000371964	ensembl	human	known	70_37	silent	SNP	0.004	T	T	136227994	C	T	136227994	2	4	160	1	0	0	0	0	0	0	0	1	15434	796	28	4		4	SURF2	9	136227994	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4180	136227994	4985437	1155	29428										
SLC2A6	11182	genome.wustl.edu	37	chr9	136338667	136338667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgttggggctcagaggcctGgggccaaagtggatgtacag	17	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:136338667G>A	ENST00000371899.4	-	8	1169	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Intron	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	364					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TCAGAGGCCTGGGGCCAAAGT	0.667																																																	0													37	37	37					9																	136338667		2199	4298	6497	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1092C>T	9.37:g.136338667G>A			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.P364	ENST00000371899.4	37	c.1092	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	G	NM_017585		136338667	-1	no_errors	ENST00000371899	ensembl	human	known	70_37	silent	SNP	0.000	A	A	136338667	G	A	136338667	2	1	160	1	0	0	0	0	0	0	0	1	14579	1335	47	4		4	SLC2A6	9	136338667	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	110673	136338667	4874764	1156	29429										
NOTCH1	4851	genome.wustl.edu	37	chr9	139410136	139410136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggggtcggggtcgcactcatCgatgtccacctcgcagtgcg	15	13	1	0	rs562413261	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:139410136C>T	ENST00000277541.6	-	11	1777	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	568	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCACTCATCGATGTCCACC	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			C|||	4	0.000798722	0	0	5008	,	,		12429	0.001		0	False		,,,				2504	0.0031							Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													16	23	20					9																	139410136		2116	4216	6332	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1702G>A	9.37:g.139410136C>T	ENSP00000277541:p.Asp568Asn		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.D568N	ENST00000277541.6	37	c.1702	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.128890	0.01756	.	.	ENSG00000148400	ENST00000277541	D	0.95482	-3.72	5.05	-0.87	0.10646	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.384561	0.27509	N	0.019051	D	0.87513	0.6196	N	0.20445	0.575	0.34423	D	0.697628	B	0.06786	0.001	B	0.04013	0.001	T	0.77437	-0.2588	10	0.14656	T	0.56	.	9.4484	0.38712	0.0:0.4201:0.0:0.5799	.	568	P46531	NOTC1_HUMAN	N	568	ENSP00000277541:D568N	ENSP00000277541:D568N	D	-	1	0	NOTCH1	138529957	0.023000	0.18921	0.398000	0.26321	0.035000	0.12851	0.136000	0.15974	-0.057000	0.13199	0.557000	0.71058	GAT	NOTCH1	-	smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139410136	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.503	T	T	139410136	C	T	139410136	3	4	160	1	0	0	0	0	1	0	0	0	10571	884	31	1	6061	1	NOTCH1	9	139410136	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3071469	139410136	1803295	1157	29430										
C8G	733	genome.wustl.edu	37	chr9	139840540	139840540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtggctctgccccagcccGagacgcccgaggggctgtgc	15	16	1	1	rs570588605		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:139840540G>T	ENST00000224181.3	+	4	410	c.350G>T	c.(349-351)cGa>cTa	p.R117L	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	117					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		GCCCCAGCCCGAGACGCCCGA	0.647																																																	0													20	21	21					9																	139840540		2199	4299	6498	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.350G>T	9.37:g.139840540G>T	ENSP00000224181:p.Arg117Leu		Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin	p.R117L	ENST00000224181.3	37	c.350	CCDS7017.1	9	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763103	0.69763	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.22945	3.14;1.93	4.15	0.0462	0.14233	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.955561	0.08676	N	0.910165	T	0.20659	0.0497	L	0.53249	1.67	0.23681	N	0.99712	P	0.44195	0.828	B	0.40165	0.321	T	0.18808	-1.0325	10	0.27785	T	0.31	-0.3502	3.8255	0.08852	0.469:0.2029:0.3281:0.0	.	117	P07360	CO8G_HUMAN	L	117	ENSP00000360697:R117L;ENSP00000224181:R117L	ENSP00000224181:R117L	R	+	2	0	C8G	138960361	0.000000	0.05858	0.124000	0.21820	0.414000	0.31173	-0.207000	0.09384	0.125000	0.18397	0.561000	0.74099	CGA	C8G	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.647	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C8G	HGNC	protein_coding	OTTHUMT00000055178.1	G			139840540	1	no_errors	ENST00000224181	ensembl	human	known	70_37	missense	SNP	0.292	T	T	139840540	G	T	139840540	3	4	160	1	0	0	0	0	1	0	0	0	2423	1058	37	3	364	3	C8G	9	139840540	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	430404	139840540	1372891	1158	29431										
MRPL41	64975	genome.wustl.edu	37	chr9	140446917	140446917	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acacaggagggaaagctcttCcagctctaccccaggaactt	9	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140446917C>T	ENST00000371443.5	+	2	1172	c.384C>T	c.(382-384)ttC>ttT	p.F128F	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	128					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GAAAGCTCTTCCAGCTCTACC	0.577																																																	0													25	24	24					9																	140446917		2198	4284	6482	SO:0001819	synonymous_variant	64975			AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"Mitochondrial ribosomal proteins / large subunits"	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.384C>T	9.37:g.140446917C>T			Q96Q49	Silent	SNP	pfam_Ribosomal_L27/L41_mit	p.F128	ENST00000371443.5	37	c.384	CCDS7046.1	9																																																																																			MRPL41	-	NULL		0.577	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL41	HGNC	protein_coding	OTTHUMT00000055327.1	C	NM_032477		140446917	1	no_errors	ENST00000371443	ensembl	human	known	70_37	silent	SNP	1.000	T	T	140446917	C	T	140446917	2	4	160	1	0	0	0	0	0	0	0	1	9828	854	30	1		1	MRPL41	9	140446917	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	606377	140446917	766514	1159	29432										
EHMT1	79813	genome.wustl.edu	37	chr9	140729282	140729282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagctcttcagctgccgctgCggctcccccaagtgccggca	11	17	2	0	rs371136319		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140729282C>T	ENST00000460843.1	+	27	3801	c.3774C>T	c.(3772-3774)tgC>tgT	p.C1258C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1258					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGCCGCTGCGGCTCCCCCA	0.672													C|||	1	0.000199681	0	0	5008	,	,		10529	0.001		0	False		,,,				2504	0																0								C		0,4406		0,0,2203	32	30	30		3774	-4.7	0.9	9		30	1,8593		0,1,4296	no	coding-synonymous	EHMT1	NM_024757.4		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		1258/1299	140729282	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3774C>T	9.37:g.140729282C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.C1258	ENST00000460843.1	37	c.3774	CCDS7050.2	9																																																																																			EHMT1	-	NULL		0.672	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140729282	1	no_errors	ENST00000460843	ensembl	human	known	70_37	silent	SNP	0.978	T	T	140729282	C	T	140729282	2	4	160	1	0	0	0	0	0	0	0	1	4993	776	27	2		2	EHMT1	9	140729282	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	282365	140729282	484149	1160	29433										
CACNA1B	774	genome.wustl.edu	37	chr9	140777216	140777216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacgacacggagccctatttCatcgggatcttttgcttcga	10	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr9:140777216C>G	ENST00000371372.1	+	3	556	c.411C>G	c.(409-411)ttC>ttG	p.F137L	CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F137L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F137L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F137L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F137L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	137					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCCCTATTTCATCGGGATCT	0.577																																																	0													139	147	144					9																	140777216		2068	4195	6263	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.411C>G	9.37:g.140777216C>G	ENSP00000360423:p.Phe137Leu		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.F137L	ENST00000371372.1	37	c.411	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967383	0.34754	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28	4.72	1.84	0.25277	.	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98503	1.0615	10	0.87932	D	0	.	5.9345	0.19158	0.0:0.4611:0.0:0.5388	.	137	B1AQK6	.	L	137	ENSP00000360423:F137L;ENSP00000277551:F137L;ENSP00000360414:F137L;ENSP00000360408:F137L;ENSP00000360406:F137L	ENSP00000277551:F137L	F	+	3	2	CACNA1B	139897037	1.000000	0.71417	0.999000	0.59377	0.201000	0.24016	0.806000	0.27126	0.418000	0.25898	0.467000	0.42956	TTC	CACNA1B	-	pfam_Ion_trans_dom		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140777216	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140777216	C	G	140777216	3	3	160	1	0	0	0	0	1	0	0	0	2544	825	29	1	421	1	CACNA1B	9	140777216	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	47934	140777216	436215	1161	29434										
DHTKD1	55526	genome.wustl.edu	37	chr10	12142234	12142234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgggccaccgcggaagctCttgccttgggttctttactt	11	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:12142234C>G	ENST00000263035.4	+	9	1791	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	577					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGCGGAAGCTCTTGCCTTGGG	0.423																																																	0													138	152	147					10																	12142234		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1729C>G	10.37:g.12142234C>G	ENSP00000263035:p.Leu577Val		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L577V	ENST00000263035.4	37	c.1729	CCDS7087.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.43|14.43	2.533355|2.533355	0.45073|0.45073	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.92099|.	-2.97|.	5.39|5.39	3.44|3.44	0.39384|0.39384	Transketolase-like, pyrimidine-binding domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76506|0.76506	0.3997|0.3997	M|M	0.92784|0.92784	3.345|3.345	0.54753|0.54753	D|D	0.999983|0.999983	D|.	0.65815|.	0.995|.	D|.	0.72075|.	0.976|.	T|T	0.79090|0.79090	-0.1946|-0.1946	10|5	0.87932|.	D|.	0|.	-10.9028|-10.9028	3.4898|3.4898	0.07633|0.07633	0.0:0.5289:0.2333:0.2378|0.0:0.5289:0.2333:0.2378	.|.	577|.	Q96HY7|.	DHTK1_HUMAN|.	V|C	577|128	ENSP00000263035:L577V|.	ENSP00000263035:L577V|.	L|S	+|+	1|2	0|0	DHTKD1|DHTKD1	12182240|12182240	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.351000|0.351000	0.29236|0.29236	1.310000|1.310000	0.33551|0.33551	2.531000|2.531000	0.85337|0.85337	0.484000|0.484000	0.47621|0.47621	CTT|TCT	DHTKD1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.423	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12142234	1	no_errors	ENST00000263035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12142234	C	G	12142234	3	3	160	1	0	0	0	0	1	0	0	0	4510	913	32	1	1763	1	DHTKD1	10	12142234	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		12142234	123392513	1162	29435										
OPTN	10133	genome.wustl.edu	37	chr10	13152294	13152294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagccatgaagctaaataatCaagccatgaaagggagattt	9	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:13152294C>G	ENST00000378748.3	+	5	549	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E	OPTN_ENST00000378747.3_Missense_Mutation_p.Q63E|OPTN_ENST00000263036.5_Missense_Mutation_p.Q63E|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378764.2_Missense_Mutation_p.Q63E|OPTN_ENST00000378757.2_Missense_Mutation_p.Q63E|OPTN_ENST00000378752.3_Missense_Mutation_p.Q63E	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	63	Interaction with Rab8.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTAAATAATCAAGCCATGAA	0.463																																																	0													48	51	50					10																	13152294		2203	4300	6503	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.187C>G	10.37:g.13152294C>G	ENSP00000368022:p.Gln63Glu		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.Q63E	ENST00000378748.3	37	c.187	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768090	0.69878	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000430081;ENST00000378747	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.98	5.98	0.97165	NF-kappa-B essential modulator NEMO, N-terminal (1);	0.052320	0.85682	D	0.000000	D	0.87478	0.6187	L	0.54323	1.7	0.39639	D	0.970297	D;D	0.69078	0.997;0.989	D;P	0.65874	0.939;0.851	T	0.81942	-0.0702	10	0.07482	T	0.82	-20.7936	19.2148	0.93772	0.0:1.0:0.0:0.0	.	63;63	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	E	63;63;63;63;63;6;63	ENSP00000263036:Q63E;ENSP00000368040:Q63E;ENSP00000368032:Q63E;ENSP00000368027:Q63E;ENSP00000368022:Q63E;ENSP00000414747:Q6E;ENSP00000368021:Q63E	ENSP00000263036:Q63E	Q	+	1	0	OPTN	13192300	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.030000	0.49720	2.838000	0.97847	0.655000	0.94253	CAA	OPTN	-	pfam_NEMO_N		0.463	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	C	NM_021980		13152294	1	no_errors	ENST00000263036	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13152294	C	G	13152294	3	3	160	1	0	0	0	0	1	0	0	0	10913	827	29	1	193	1	OPTN	10	13152294	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1010060	13152294	122382453	1163	29436										
BEND7	222389	genome.wustl.edu	37	chr10	13534813	13534813	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctttttatttctctttcgtGagacagcagttcgctgggag	10	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:13534813G>C	ENST00000396900.2	-	5	634	c.635C>G	c.(634-636)tCa>tGa	p.S212*	BEND7_ENST00000378605.3_Nonsense_Mutation_p.S173*|BEND7_ENST00000341083.3_Nonsense_Mutation_p.S160*|BEND7_ENST00000396898.2_Nonsense_Mutation_p.S225*			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	212						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCTCTTTCGTGAGACAGCAGT	0.433																																																	0													70	73	72					10																	13534813		2203	4300	6503	SO:0001587	stop_gained	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.635C>G	10.37:g.13534813G>C	ENSP00000380108:p.Ser212*		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Nonsense_Mutation	SNP	pfam_BEN_domain	p.S212*	ENST00000396900.2	37	c.635		10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763008	0.89932	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	.	.	.	5.42	5.42	0.78866	.	0.476731	0.23680	N	0.045623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.3553	19.6596	0.95859	0.0:0.0:1.0:0.0	.	.	.	.	X	212;160;225;173	.	ENSP00000345773:S160X	S	-	2	0	BEND7	13574819	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	6.660000	0.74417	2.708000	0.92522	0.650000	0.86243	TCA	BEND7	-	NULL		0.433	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13534813	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	nonsense	SNP	0.998	C	C	13534813	G	C	13534813	4	2	160	1	0	0	0	0	0	1	0	0	1404	1294	45	1	959	1	BEND7	10	13534813	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	382519	13534813	121999934	1164	29437										
BEND7	222389	genome.wustl.edu	37	chr10	13538864	13538864	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacagcagtttgatccagctGatgaattcaccactggaagt	9	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:13538864G>A	ENST00000396900.2	-	4	472	c.473C>T	c.(472-474)tCa>tTa	p.S158L	BEND7_ENST00000378605.3_Missense_Mutation_p.S119L|BEND7_ENST00000341083.3_Missense_Mutation_p.S106L|BEND7_ENST00000396898.2_Missense_Mutation_p.S171L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	158						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGATCCAGCTGATGAATTCAC	0.383																																																	0													99	95	96					10																	13538864		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.473C>T	10.37:g.13538864G>A	ENSP00000380108:p.Ser158Leu		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.S158L	ENST00000396900.2	37	c.473		10	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985620	0.53934	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.49139	0.88;0.88;0.79;0.8	5.23	3.3	0.37823	.	0.467756	0.24393	N	0.038908	T	0.40040	0.1101	L	0.53249	1.67	0.26628	N	0.972525	B;B	0.33171	0.039;0.4	B;B	0.26969	0.023;0.075	T	0.31971	-0.9924	10	0.56958	D	0.05	-2.4138	11.3696	0.49692	0.0697:0.1265:0.8039:0.0	.	171;106	E5RFC0;Q8N7W2-3	.;.	L	158;106;171;119	ENSP00000380108:S158L;ENSP00000345773:S106L;ENSP00000380107:S171L;ENSP00000367868:S119L	ENSP00000345773:S106L	S	-	2	0	BEND7	13578870	1.000000	0.71417	0.009000	0.14445	0.966000	0.64601	6.499000	0.73683	0.654000	0.30846	0.650000	0.86243	TCA	BEND7	-	NULL		0.383	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13538864	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	0.772	A	A	13538864	G	A	13538864	3	1	160	1	0	0	0	0	1	0	0	0	1404	1294	45	1	1125	1	BEND7	10	13538864	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4051	13538864	121995883	1165	29438										
STAM	8027	genome.wustl.edu	37	chr10	17750872	17750872	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttcccccggagcagctgtCttctctcagccaggcagtgg	11	15	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:17750872C>G	ENST00000377524.3	+	13	1522	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C	STAM_ENST00000540523.1_Missense_Mutation_p.S325C	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	436					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GAGCAGCTGTCTTCTCTCAGC	0.572																																																	0													93	90	91					10																	17750872		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1307C>G	10.37:g.17750872C>G	ENSP00000366746:p.Ser436Cys		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.S436C	ENST00000377524.3	37	c.1307	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978381	0.74360	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.41758	1.29;0.99	5.68	5.68	0.88126	.	0.279004	0.40640	N	0.001044	T	0.48892	0.1525	L	0.44542	1.39	0.46725	D	0.999178	D;P	0.57571	0.98;0.698	P;B	0.49708	0.62;0.241	T	0.48103	-0.9064	10	0.62326	D	0.03	-11.4532	19.7782	0.96405	0.0:1.0:0.0:0.0	.	325;436	B4DZT2;Q92783	.;STAM1_HUMAN	C	436;325	ENSP00000366746:S436C;ENSP00000438073:S325C	ENSP00000366746:S436C	S	+	2	0	STAM	17790878	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	5.747000	0.68689	2.668000	0.90789	0.591000	0.81541	TCT	STAM	-	NULL		0.572	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	C	NM_003473		17750872	1	no_errors	ENST00000377524	ensembl	human	known	70_37	missense	SNP	0.996	G	G	17750872	C	G	17750872	3	3	160	1	0	0	0	0	1	0	0	0	15278	913	32	1	1357	1	STAM	10	17750872	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4212008	17750872	117783875	1166	29439										
CACNB2	783	genome.wustl.edu	37	chr10	18828165	18828165	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctttcgctgccagggttctCaaggtgatcagaggactgat	12	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:18828165C>G	ENST00000324631.7	+	14	1555	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	CACNB2_ENST00000282343.8_Missense_Mutation_p.Q471E|CACNB2_ENST00000377329.4_Missense_Mutation_p.Q445E|CACNB2_ENST00000377328.1_Missense_Mutation_p.Q249E|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.Q444E|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.Q451E|CACNB2_ENST00000352115.6_Missense_Mutation_p.Q475E|CACNB2_ENST00000377331.2_Missense_Mutation_p.Q447E|CACNB2_ENST00000377319.3_Missense_Mutation_p.Q406E	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	499					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGGTTCTCAAGGTGATCA	0.512																																																	0													99	89	93					10																	18828165		2203	4300	6503	SO:0001583	missense	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1495C>G	10.37:g.18828165C>G	ENSP00000320025:p.Gln499Glu		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.Q499E	ENST00000324631.7	37	c.1495	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359895	0.61403	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.82344	-1.58;-1.57;-1.6;-1.57;-1.58;-1.58;-1.58;-1.58;-1.58	5.32	5.32	0.75619	.	0.739973	0.13849	N	0.358479	T	0.80470	0.4629	L	0.36672	1.1	0.54753	D	0.999986	B;B;P;B;B;B;B;B;B;B;B;B;B	0.48998	0.017;0.112;0.918;0.047;0.081;0.079;0.087;0.03;0.112;0.178;0.122;0.288;0.183	B;B;P;B;B;B;B;B;B;B;B;B;B	0.46885	0.006;0.021;0.53;0.008;0.076;0.041;0.019;0.022;0.048;0.048;0.051;0.103;0.03	T	0.74748	-0.3560	10	0.09590	T	0.72	-7.9776	19.1859	0.93644	0.0:1.0:0.0:0.0	.	413;471;249;451;421;445;455;406;447;471;461;475;499	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	E	499;475;249;471;447;444;406;445;451	ENSP00000320025:Q499E;ENSP00000344474:Q475E;ENSP00000366545:Q249E;ENSP00000282343:Q471E;ENSP00000366548:Q447E;ENSP00000379821:Q444E;ENSP00000366536:Q406E;ENSP00000366546:Q445E;ENSP00000366532:Q451E	ENSP00000282343:Q471E	Q	+	1	0	CACNB2	18868171	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.781000	0.55394	2.778000	0.95560	0.655000	0.94253	CAA	CACNB2	-	NULL		0.512	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	C	NM_000724		18828165	1	no_errors	ENST00000324631	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18828165	C	G	18828165	3	3	160	1	0	0	0	0	1	0	0	0	2558	827	29	1	1859	1	CACNB2	10	18828165	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1077293	18828165	116706582	1167	29440										
SPAG6	9576	genome.wustl.edu	37	chr10	22678157	22678157	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcattgggtcctgcaaaggGaacacacggctgcctggcat	13	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:22678157G>C	ENST00000376624.3	+	7	1063	c.921G>C	c.(919-921)ggG>ggC	p.G307G	SPAG6_ENST00000313311.6_Silent_p.G307G|SPAG6_ENST00000376603.2_Silent_p.G383G|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.G282G|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	307					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCTGCAAAGGGAACACACGGC	0.493																																																	0													196	164	175					10																	22678157		2203	4300	6503	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.921G>C	10.37:g.22678157G>C			A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.G383	ENST00000376624.3	37	c.1149	CCDS7139.1	10																																																																																			SPAG6	-	superfamily_ARM-type_fold,smart_Armadillo		0.493	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	G			22678157	1	no_errors	ENST00000376603	ensembl	human	known	70_37	silent	SNP	0.869	C	C	22678157	G	C	22678157	2	2	160	1	0	0	0	0	0	0	0	1	15012	1161	41	1		1	SPAG6	10	22678157	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3849992	22678157	112856590	1168	29441										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24880833	24880833	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacgtgctggatgagcgtttCtacaatcttgtactggtcag	11	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:24880833C>G	ENST00000396432.2	-	22	4471	c.3985G>C	c.(3985-3987)Gaa>Caa	p.E1329Q	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E1116Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1328	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATGAGCGTTTCTACAATCTTG	0.453																																																	0													223	184	197					10																	24880833		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3985G>C	10.37:g.24880833C>G	ENSP00000379709:p.Glu1329Gln		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E1329Q	ENST00000396432.2	37	c.3985	CCDS7144.2	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882465|4.882465	0.91740|0.91740	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	T;T|.	0.12569|.	2.67;2.67|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75889|0.75889	0.3911|0.3911	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72766|0.72766	-0.4194|-0.4194	10|5	0.52906|.	T|.	0.07|.	.|.	20.1041|20.1041	0.97884|0.97884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1328|.	Q5T5U3|.	RHG21_HUMAN|.	Q|T	1329;778;1116|142	ENSP00000379709:E1329Q;ENSP00000365604:E1116Q|.	ENSP00000365604:E1116Q|.	E|R	-|-	1|2	0|0	ARHGAP21|ARHGAP21	24920839|24920839	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.812000|0.812000	0.45895|0.45895	7.770000|7.770000	0.85390|0.85390	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAA|AGA	ARHGAP21	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.453	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24880833	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24880833	C	G	24880833	3	3	160	1	0	0	0	0	1	0	0	0	871	922	32	1	1911	1	ARHGAP21	10	24880833	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2202676	24880833	110653914	1169	29442										
PRTFDC1	56952	genome.wustl.edu	37	chr10	25160966	25160966	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatcatcgcctccgattatCtgcatctcacccatggactg	7	14	3	1	rs557447887		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:25160966C>G	ENST00000320152.6	-	4	394	c.366G>C	c.(364-366)caG>caC	p.Q122H	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.Q122H	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	122					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTCCGATTATCTGCATCTCAC	0.448																																																	0													260	226	237					10																	25160966		2203	4300	6503	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.366G>C	10.37:g.25160966C>G	ENSP00000318602:p.Gln122His		B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.Q122H	ENST00000320152.6	37	c.366	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449786	0.26074	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99382	-5.8;-5.8	5.7	2.87	0.33458	Phosphoribosyltransferase (1);	0.051776	0.85682	D	0.000000	D	0.98071	0.9364	N	0.17278	0.47	0.80722	D	1	D;B	0.59357	0.985;0.006	D;B	0.74348	0.983;0.013	D	0.96351	0.9258	10	0.41790	T	0.15	.	7.1092	0.25380	0.0:0.7314:0.0:0.2686	.	122;122	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	H	122	ENSP00000318602:Q122H;ENSP00000365558:Q122H	ENSP00000318602:Q122H	Q	-	3	2	PRTFDC1	25200972	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.447000	0.35101	0.774000	0.33427	-0.136000	0.14681	CAG	PRTFDC1	-	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans		0.448	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	C	NM_020200		25160966	-1	no_errors	ENST00000320152	ensembl	human	known	70_37	missense	SNP	0.998	G	G	25160966	C	G	25160966	3	3	160	1	0	0	0	0	1	0	0	0	12664	912	32	1	335	1	PRTFDC1	10	25160966	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	280133	25160966	110373781	1170	29443										
ANKRD26	22852	genome.wustl.edu	37	chr10	27301906	27301906	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aataagttttctgttgagatCtaaactattattaagatttc	5	4	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:27301906C>T	ENST00000376087.4	-	32	5023	c.4858G>A	c.(4858-4860)Gat>Aat	p.D1620N	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D1177N|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1636N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1619					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTGTTGAGATCTAAACTATTA	0.408																																																	0													137	131	133					10																	27301906		1864	4105	5969	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4858G>A	10.37:g.27301906C>T	ENSP00000365255:p.Asp1620Asn		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1636N	ENST00000376087.4	37	c.4906	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553488|1.553488	0.27739|0.27739	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	4.56|4.56	-1.58|-1.58	0.08479|0.08479	.|.	.|.	.|.	.|.	.|.	T|T	0.10551|0.10551	0.0258|0.0258	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.29716|.	0.059;0.073;0.255|.	B;B;B|.	0.30251|.	0.047;0.078;0.113|.	T|T	0.25950|0.25950	-1.0117|-1.0117	9|5	0.49607|.	T|.	0.09|.	.|.	0.9452|0.9452	0.01364|0.01364	0.1559:0.3791:0.1525:0.3125|0.1559:0.3791:0.1525:0.3125	.|.	1620;1619;1636|.	Q9UPS8-3;Q9UPS8;A1L497|.	.;ANR26_HUMAN;.|.	N|K	1177;1620;1636|107	ENSP00000365238:D1177N;ENSP00000365255:D1620N;ENSP00000405112:D1636N|.	ENSP00000365238:D1177N|.	D|R	-|-	1|2	0|0	ANKRD26|ANKRD26	27341912|27341912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.047000|0.047000	0.14425|0.14425	-0.002000|-0.002000	0.12924|0.12924	-0.278000|-0.278000	0.09180|0.09180	0.297000|0.297000	0.19635|0.19635	GAT|AGA	ANKRD26	-	pfam_DUF3496		0.408	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27301906	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.000	T	T	27301906	C	T	27301906	3	4	160	1	0	0	0	0	1	0	0	0	654	913	32	1	286	1	ANKRD26	10	27301906	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2140940	27301906	108232841	1171	29444										
MASTL	84930	genome.wustl.edu	37	chr10	27448577	27448577	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatcttattgggggagatgtCaagtctctcctacatatata	8	7	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:27448577C>G	ENST00000375940.4	+	3	411	c.354C>G	c.(352-354)gtC>gtG	p.V118V	MASTL_ENST00000342386.6_Silent_p.V118V|MASTL_ENST00000375946.4_Silent_p.V118V			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGAGATGTCAAGTCTCTCC	0.313																																																	0													66	71	70					10																	27448577		2203	4298	6501	SO:0001819	synonymous_variant	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.354C>G	10.37:g.27448577C>G			Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V118	ENST00000375940.4	37	c.354	CCDS53502.1	10																																																																																			MASTL	-	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		0.313	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27448577	1	no_errors	ENST00000375940	ensembl	human	known	70_37	silent	SNP	1.000	G	G	27448577	C	G	27448577	2	3	160	1	0	0	0	0	0	0	0	1	9351	813	29	1		1	MASTL	10	27448577	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	146671	27448577	108086170	1172	29445										
MKX	283078	genome.wustl.edu	37	chr10	28023530	28023530	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcgtggccatgacatgtctCaaagagtcattaaggtaacg	10	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:28023530C>T	ENST00000375790.5	-	5	1125	c.693G>A	c.(691-693)ttG>ttA	p.L231L	MKX_ENST00000419761.1_Silent_p.L231L			Q8IYA7	MKX_HUMAN	mohawk homeobox	231					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGACATGTCTCAAAGAGTCAT	0.478																																																	0													191	180	184					10																	28023530		2203	4300	6503	SO:0001819	synonymous_variant	283078			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.693G>A	10.37:g.28023530C>T			B3KWM5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L231	ENST00000375790.5	37	c.693	CCDS7156.1	10																																																																																			MKX	-	NULL		0.478	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKX	HGNC	protein_coding	OTTHUMT00000047332.3	C	NM_173576		28023530	-1	no_errors	ENST00000375790	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28023530	C	T	28023530	2	4	160	1	0	0	0	0	0	0	0	1	9633	825	29	1		1	MKX	10	28023530	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	574953	28023530	107511217	1173	29446										
KIAA1462	57608	genome.wustl.edu	37	chr10	30316395	30316395	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctccggcacccacatcctCggctgtggctcaaccctcat	7	19	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:30316395C>G	ENST00000375377.1	-	3	2783	c.2682G>C	c.(2680-2682)ccG>ccC	p.P894P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	894					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCACATCCTCGGCTGTGGCT	0.627																																																	0													60	65	64					10																	30316395		2092	4222	6314	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2682G>C	10.37:g.30316395C>G			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.P894	ENST00000375377.1	37	c.2682	CCDS41500.1	10																																																																																			KIAA1462	-	NULL		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30316395	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	silent	SNP	0.000	G	G	30316395	C	G	30316395	2	3	160	1	0	0	0	0	0	0	0	1	8254	871	31	1		1	KIAA1462	10	30316395	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2292865	30316395	105218352	1174	29447										
EPC1	80314	genome.wustl.edu	37	chr10	32581511	32581511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctctagaatagtaacagctCgacttagatctcgtcgcagc	8	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:32581511C>T	ENST00000263062.8	-	5	997	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	EPC1_ENST00000375110.2_Missense_Mutation_p.R193Q|EPC1_ENST00000319778.6_Missense_Mutation_p.R243Q	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	243					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AGTAACAGCTCGACTTAGATC	0.328																																																	0													105	102	103					10																	32581511		2202	4300	6502	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.728G>A	10.37:g.32581511C>T	ENSP00000263062:p.Arg243Gln		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.R243Q	ENST00000263062.8	37	c.728	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.851529	0.97023	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	M	0.66506	2.035	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.954	D;D;D;P	0.83275	0.971;0.996;0.991;0.486	T	0.77933	-0.2402	9	0.51188	T	0.08	-13.6586	20.0627	0.97684	0.0:1.0:0.0:0.0	.	243;193;243;243	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	Q	193;243;243	.	ENSP00000263062:R243Q	R	-	2	0	EPC1	32621517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.807000	0.96579	0.591000	0.81541	CGA	EPC1	-	NULL		0.328	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	C			32581511	-1	no_errors	ENST00000263062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32581511	C	T	32581511	3	4	160	1	0	0	0	0	1	0	0	0	5172	884	31	1	1826	1	EPC1	10	32581511	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2265116	32581511	102953236	1175	29448										
CCDC7	79741	genome.wustl.edu	37	chr10	32833221	32833221	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaataaaagaagatttggatCaagtacaggtaacacaccca	7	7	1	2	rs575329997		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:32833221C>G	ENST00000362006.5	+	14	1669	c.1126C>G	c.(1126-1128)Caa>Gaa	p.Q376E	CCDC7_ENST00000277657.6_Missense_Mutation_p.Q376E|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	376										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGATTTGGATCAAGTACAGGT	0.294																																																	0													85	87	87					10																	32833221		2203	4286	6489	SO:0001583	missense	79741			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1126C>G	10.37:g.32833221C>G	ENSP00000355078:p.Gln376Glu		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.Q376E	ENST00000362006.5	37	c.1126	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386362	0.25031	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.52526	1.28;1.28;0.66	3.2	-0.329	0.12686	.	.	.	.	.	T	0.28134	0.0694	L	0.29908	0.895	0.27388	N	0.95524	B	0.23891	0.093	B	0.17433	0.018	T	0.23476	-1.0187	9	0.15952	T	0.53	-0.3814	5.3863	0.16220	0.4527:0.3536:0.1936:0.0	.	376	Q96M83	CCDC7_HUMAN	E	376;376;45	ENSP00000277657:Q376E;ENSP00000355078:Q376E;ENSP00000401923:Q45E	ENSP00000277657:Q376E	Q	+	1	0	CCDC7	32873227	0.000000	0.05858	0.297000	0.24988	0.396000	0.30629	-0.982000	0.03762	-0.067000	0.12976	0.655000	0.94253	CAA	CCDC7	-	NULL		0.294	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	C	NM_145023		32833221	1	no_errors	ENST00000277657	ensembl	human	known	70_37	missense	SNP	0.377	G	G	32833221	C	G	32833221	3	3	160	1	0	0	0	0	1	0	0	0	2847	827	29	1	1176	1	CCDC7	10	32833221	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	251710	32833221	102701526	1176	29449										
PARD3	56288	genome.wustl.edu	37	chr10	34606252	34606252	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccctgatcttgaactttcttCtgtgtcttcttccacttgga	6	12	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:34606252C>T	ENST00000374789.3	-	20	3182	c.2857G>A	c.(2857-2859)Gaa>Aaa	p.E953K	PARD3_ENST00000374776.1_Missense_Mutation_p.E907K|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.E878K|PARD3_ENST00000374788.3_Missense_Mutation_p.E950K|PARD3_ENST00000350537.4_Missense_Mutation_p.E907K|PARD3_ENST00000340077.5_Missense_Mutation_p.E950K|PARD3_ENST00000544292.1_Missense_Mutation_p.E666K|PARD3_ENST00000374773.1_Missense_Mutation_p.E920K|PARD3_ENST00000545260.1_Missense_Mutation_p.E863K|PARD3_ENST00000545693.1_Missense_Mutation_p.E937K|PARD3_ENST00000346874.4_Missense_Mutation_p.E953K|PARD3_ENST00000374790.3_Missense_Mutation_p.E893K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	953					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAACTTTCTTCTGTGTCTTCT	0.398																																																	0													91	89	90					10																	34606252		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2857G>A	10.37:g.34606252C>T	ENSP00000363921:p.Glu953Lys		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E953K	ENST00000374789.3	37	c.2857	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.558952	0.96514	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.992;0.998;0.998;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.998;0.992;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.997;0.984;0.997;0.997;0.997;0.997;0.997;0.993;0.993;0.993;0.993;0.997;0.94;0.997;0.997	T	0.59279	-0.7484	10	0.66056	D	0.02	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	878;863;907;907;937;953;950;953;893;937;920;950;907;919;666	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	K	937;863;953;950;953;878;907;893;907;950;920;666	ENSP00000443147:E937K;ENSP00000440857:E863K;ENSP00000363921:E953K;ENSP00000363920:E950K;ENSP00000340591:E953K;ENSP00000363926:E878K;ENSP00000311986:E907K;ENSP00000363922:E893K;ENSP00000363908:E907K;ENSP00000341844:E950K;ENSP00000363905:E920K;ENSP00000444429:E666K	ENSP00000341844:E950K	E	-	1	0	PARD3	34646258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.143000	0.77348	2.882000	0.98803	0.655000	0.94253	GAA	PARD3	-	NULL		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619		34606252	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34606252	C	T	34606252	3	4	160	1	0	0	0	0	1	0	0	0	11467	922	32	1	1272	1	PARD3	10	34606252	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1773031	34606252	100928495	1177	29450										
FZD8	8325	genome.wustl.edu	37	chr10	35928930	35928930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgcgcaggttgtccaggctCtggttgcccacgtagcagat	13	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:35928930C>T	ENST00000374694.1	-	1	1432	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	476					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGTCCAGGCTCTGGTTGCCCA	0.672																																																	0													39	34	36					10																	35928930		2202	4300	6502	SO:0001819	synonymous_variant	8325			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1428G>A	10.37:g.35928930C>T				Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.Q476	ENST00000374694.1	37	c.1428	CCDS7192.1	10																																																																																			FZD8	-	pfam_Frizzled,pfscan_GPCR_2-like		0.672	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD8	HGNC	protein_coding	OTTHUMT00000047575.2	C	NM_031866		35928930	-1	no_errors	ENST00000374694	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35928930	C	T	35928930	2	4	160	1	0	0	0	0	0	0	0	1	6154	912	32	1		1	FZD8	10	35928930	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1322678	35928930	99605817	1178	29451										
FXYD4	53828	genome.wustl.edu	37	chr10	43870966	43870966	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gactggaaaaacctgcagctGagcggactgatctgcggagg	15	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:43870966G>C	ENST00000476166.1	+	6	451	c.117G>C	c.(115-117)ctG>ctC	p.L39L	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	39					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|large_intestine(1)|lung(3)	5						ACCTGCAGCTGAGCGGACTGA	0.612																																					GBM(173;880 2047 13035 42390 49655)												0													72	70	71					10																	43870966		2203	4300	6503	SO:0001819	synonymous_variant	53828				CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"FXYD domain-containing ion transport regulator 4"			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	ENST00000476166.1:c.117G>C	10.37:g.43870966G>C			Q6UWZ1|Q7Z4M5	Silent	SNP	pfam_Ion-transport_regulator_FXYD	p.L39	ENST00000476166.1	37	c.117	CCDS7203.1	10																																																																																			FXYD4	-	pfam_Ion-transport_regulator_FXYD		0.612	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXYD4	HGNC	protein_coding	OTTHUMT00000047698.2	G	NM_173160		43870966	1	no_errors	ENST00000374451	ensembl	human	known	70_37	silent	SNP	0.991	C	C	43870966	G	C	43870966	2	2	160	1	0	0	0	0	0	0	0	1	6138	1277	45	1		1	FXYD4	10	43870966	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7942036	43870966	91663781	1179	29452										
ZNF485	220992	genome.wustl.edu	37	chr10	44112470	44112470	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atactggggagaaaccctatCactgcagtaaatgtggaaaa	10	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:44112470C>G	ENST00000361807.3	+	5	1173	c.979C>G	c.(979-981)Cac>Gac	p.H327D	ZNF485_ENST00000374435.3_Missense_Mutation_p.H327D|ZNF485_ENST00000374437.2_Missense_Mutation_p.H236D	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAACCCTATCACTGCAGTAA	0.418																																																	0													116	118	118					10																	44112470		2203	4300	6503	SO:0001583	missense	220992			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.979C>G	10.37:g.44112470C>G	ENSP00000354694:p.His327Asp		B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H327D	ENST00000361807.3	37	c.979	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	8.584	0.882921	0.17467	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.13089	2.62;2.62;2.62	2.18	0.239	0.15484	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.04373	-0.215	0.22401	N	0.999135	B	0.11235	0.004	B	0.10450	0.005	T	0.36311	-0.9753	9	0.51188	T	0.08	.	4.8329	0.13449	0.0:0.4995:0.0:0.5005	.	327	Q8NCK3	ZN485_HUMAN	D	327;236;327	ENSP00000354694:H327D;ENSP00000363560:H236D;ENSP00000363558:H327D	ENSP00000354694:H327D	H	+	1	0	ZNF485	43432476	0.000000	0.05858	0.171000	0.22900	0.973000	0.67179	-2.694000	0.00828	0.049000	0.15920	0.305000	0.20034	CAC	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	C	NM_145312		44112470	1	no_errors	ENST00000361807	ensembl	human	known	70_37	missense	SNP	0.709	G	G	44112470	C	G	44112470	3	3	160	1	0	0	0	0	1	0	0	0	17968	826	29	1	993	1	ZNF485	10	44112470	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	241504	44112470	91422277	1180	29453										
TMEM72	643236	genome.wustl.edu	37	chr10	45430487	45430487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctggatgatggggacagtGagccagaggagaccacctct	15	9	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:45430487G>C	ENST00000544540.1	+	4	863	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	245						integral component of membrane (GO:0016021)		p.E245K(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TGGGGACAGTGAGCCAGAGGA	0.602																																																	2	Substitution - Missense(2)	lung(2)											105	104	104					10																	45430487		1568	3582	5150	SO:0001583	missense	643236			AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 127"	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.379G>C	10.37:g.45430487G>C	ENSP00000439911:p.Glu127Gln		A1L181|Q5T740	Missense_Mutation	SNP	NULL	p.E127Q	ENST00000544540.1	37	c.379		10	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728588	0.69074	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.41	5.41	0.78517	.	0.266405	0.30850	N	0.008743	T	0.72301	0.3443	M	0.69823	2.125	0.41174	D	0.98618	D	0.54964	0.969	P	0.52514	0.701	T	0.75531	-0.3285	9	0.59425	D	0.04	-0.1898	17.0481	0.86510	0.0:0.0:1.0:0.0	.	245	A0PK05	TMM72_HUMAN	Q	245;127	.	ENSP00000374234:E245Q	E	+	1	0	TMEM72	44750493	0.996000	0.38824	0.998000	0.56505	0.892000	0.51952	3.770000	0.55310	2.707000	0.92482	0.655000	0.94253	GAG	TMEM72	-	NULL		0.602	TMEM72-201	KNOWN	basic	protein_coding	TMEM72	HGNC	protein_coding		G	NM_001123376		45430487	1	no_errors	ENST00000544540	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45430487	G	C	45430487	3	2	160	1	0	0	0	0	1	0	0	0	16231	1291	45	1	751	1	TMEM72	10	45430487	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1318017	45430487	90104260	1181	29454										
ZNF22	7570	genome.wustl.edu	37	chr10	45499194	45499194	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcaaacagagctcaaatctCattcagcaccagagaattca	5	11	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:45499194C>A	ENST00000298299.3	+	2	971	c.378C>A	c.(376-378)ctC>ctA	p.L126L	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	126					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L126L(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GCTCAAATCTCATTCAGCACC	0.453																																																	1	Substitution - coding silent(1)	breast(1)											77	77	77					10																	45499194		2203	4300	6503	SO:0001819	synonymous_variant	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.378C>A	10.37:g.45499194C>A			Q5T741|Q96FM4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L126	ENST00000298299.3	37	c.378	CCDS7211.1	10																																																																																			ZNF22	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	HGNC	protein_coding	OTTHUMT00000047761.1	C	NM_006963		45499194	1	no_errors	ENST00000298299	ensembl	human	known	70_37	silent	SNP	0.961	A	A	45499194	C	A	45499194	2	1	160	1	0	0	0	0	0	0	0	1	17804	813	29	3		3	ZNF22	10	45499194	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	68707	45499194	90035553	1182	29455										
ANK3	288	genome.wustl.edu	37	chr10	61802484	61802484	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttttccacatgccggatttCtttcttcgttttcaccttaa	4	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:61802484C>G	ENST00000280772.2	-	43	13290	c.13099G>C	c.(13099-13101)Gaa>Caa	p.E4367Q	ANK3_ENST00000355288.2_Missense_Mutation_p.E991Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1851Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1858Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4367					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCCGGATTTCTTTCTTCGTT	0.403																																																	0													283	261	268					10																	61802484		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.13099G>C	10.37:g.61802484C>G	ENSP00000280772:p.Glu4367Gln		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E4367Q	ENST00000280772.2	37	c.13099	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603447	0.87157	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.79033	-0.2;-0.44;-1.23;0.23;0.2;-0.44	5.79	5.79	0.91817	.	0.000000	0.41396	D	0.000881	T	0.82259	0.4998	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.981;0.981;0.981;0.993;0.989;0.981;0.998	D;D;D;D;D;D;D	0.78314	0.932;0.932;0.932;0.979;0.969;0.932;0.991	T	0.83322	-0.0017	10	0.56958	D	0.05	.	18.2115	0.89872	0.0:1.0:0.0:0.0	.	1858;990;1851;4367;1091;991;390	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	Q	4367;1851;449;156;991;1858;1837;1091	ENSP00000280772:E4367Q;ENSP00000362933:E1851Q;ENSP00000362926:E449Q;ENSP00000423057:E156Q;ENSP00000347436:E991Q;ENSP00000425236:E1858Q	ENSP00000280772:E4367Q	E	-	1	0	ANK3	61472490	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.351000	0.66022	2.728000	0.93425	0.561000	0.74099	GAA	ANK3	-	NULL		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61802484	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61802484	C	G	61802484	3	3	160	1	0	0	0	0	1	0	0	0	622	922	32	1	38	1	ANK3	10	61802484	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	16303290	61802484	73732263	1183	29456										
ANK3	288	genome.wustl.edu	37	chr10	61834248	61834248	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtcttttcacttcttgtttCaaagccactgtcagacaagg	7	10	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:61834248C>G	ENST00000280772.2	-	37	6582	c.6391G>C	c.(6391-6393)Gaa>Caa	p.E2131Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2131					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCTTGTTTCAAAGCCACTG	0.423																																																	0													105	98	101					10																	61834248		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6391G>C	10.37:g.61834248C>G	ENSP00000280772:p.Glu2131Gln		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E2131Q	ENST00000280772.2	37	c.6391	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000134	0.74818	.	.	ENSG00000151150	ENST00000280772	T	0.58797	0.31	5.8	5.8	0.92144	.	0.000000	0.43416	D	0.000568	T	0.75162	0.3812	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73360	-0.4007	10	0.48119	T	0.1	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	2131	Q12955	ANK3_HUMAN	Q	2131	ENSP00000280772:E2131Q	ENSP00000280772:E2131Q	E	-	1	0	ANK3	61504254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.755000	0.94549	0.655000	0.94253	GAA	ANK3	-	NULL		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61834248	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61834248	C	G	61834248	3	3	160	1	0	0	0	0	1	0	0	0	622	835	29	1	7083	1	ANK3	10	61834248	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	31764	61834248	73700499	1184	29457										
MYPN	84665	genome.wustl.edu	37	chr10	69957140	69957140	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagtgcaagaaagagacaaaGagcccctacaggaacgcttt	11	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:69957140G>C	ENST00000358913.5	+	16	3678	c.3190G>C	c.(3190-3192)Gag>Cag	p.E1064Q	MYPN_ENST00000354393.2_Missense_Mutation_p.E789Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E1064Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1064	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAGACAAAGAGCCCCTACA	0.443																																																	0													115	117	116					10																	69957140		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3190G>C	10.37:g.69957140G>C	ENSP00000351790:p.Glu1064Gln		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E1064Q	ENST00000358913.5	37	c.3190	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.140304	0.94560	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60299	0.2;0.28;0.25	5.16	5.16	0.70880	.	0.117866	0.56097	D	0.000032	T	0.73999	0.3659	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.983;0.983;0.995	T	0.73347	-0.4011	9	.	.	.	.	18.6276	0.91347	0.0:0.0:1.0:0.0	.	1064;789;1064	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	Q	789;789;1064;1064	ENSP00000346369:E789Q;ENSP00000351790:E1064Q;ENSP00000441668:E1064Q	.	E	+	1	0	MYPN	69627146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.770000	0.98971	2.403000	0.81681	0.655000	0.94253	GAG	MYPN	-	NULL		0.443	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	G	NM_032578		69957140	1	no_errors	ENST00000358913	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69957140	G	C	69957140	3	2	160	1	0	0	0	0	1	0	0	0	10121	943	33	1	3248	1	MYPN	10	69957140	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8122892	69957140	65577607	1185	29458										
HK1	3098	genome.wustl.edu	37	chr10	71142457	71142457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaagaagaggatgcgggccGagatggagctggggctgagg	21	5	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:71142457G>A	ENST00000359426.6	+	10	1584	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	HK1_ENST00000360289.2_Missense_Mutation_p.E482K|HK1_ENST00000448642.2_Missense_Mutation_p.E529K|HK1_ENST00000298649.3_Missense_Mutation_p.E493K|HK1_ENST00000404387.2_Missense_Mutation_p.E498K|HK1_ENST00000494253.1_3'UTR	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	494	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GATGCGGGCCGAGATGGAGCT	0.617																																																	0													86	66	73					10																	71142457		2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1480G>A	10.37:g.71142457G>A	ENSP00000352398:p.Glu494Lys		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.E529K	ENST00000359426.6	37	c.1585	CCDS7292.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949183	0.92660	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56	5.53	5.53	0.82687	Hexokinase, N-terminal (1);	0.044743	0.85682	D	0.000000	D	0.99557	0.9841	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;0.997;1.0;1.0;0.999	D;P;P;D;D;D	0.77004	0.969;0.879;0.808;0.989;0.981;0.964	D	0.98413	1.0573	10	0.72032	D	0.01	.	19.8134	0.96556	0.0:0.0:1.0:0.0	.	494;494;493;529;498;482	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	K	482;529;498;493;494;494	ENSP00000353433:E482K;ENSP00000402103:E529K;ENSP00000384774:E498K;ENSP00000298649:E493K;ENSP00000352398:E494K	ENSP00000298649:E493K	E	+	1	0	HK1	70812463	1.000000	0.71417	0.964000	0.40570	0.432000	0.31715	9.743000	0.98849	2.767000	0.95098	0.655000	0.94253	GAG	HK1	-	pfam_Hexokinase_N		0.617	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	G	NM_000188		71142457	1	no_errors	ENST00000448642	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71142457	G	A	71142457	3	1	160	1	0	0	0	0	1	0	0	0	7210	1059	37	1	1696	1	HK1	10	71142457	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1185317	71142457	64392290	1186	29459										
KIAA1274	27143	genome.wustl.edu	37	chr10	72293705	72293705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcctgctgcagctccgtGatgcccacgggcctccccca	10	20	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:72293705G>C	ENST00000263563.6	+	8	1166	c.898G>C	c.(898-900)Gat>Cat	p.D300H		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	300						cytosol (GO:0005829)											GCAGCTCCGTGATGCCCACGG	0.652																																																	0													38	35	36					10																	72293705		2203	4300	6503	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.898G>C	10.37:g.72293705G>C	ENSP00000263563:p.Asp300His		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.D300H	ENST00000263563.6	37	c.898	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313140	0.23908	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.24350	1.86	4.64	4.64	0.57946	.	0.688261	0.14772	N	0.299301	T	0.50599	0.1625	M	0.78049	2.395	0.09310	N	0.999997	D	0.63046	0.992	P	0.58970	0.849	T	0.46190	-0.9209	10	0.72032	D	0.01	-2.6131	17.9911	0.89169	0.0:0.0:1.0:0.0	.	300	Q9ULE6	PALD_HUMAN	H	300	ENSP00000263563:D300H	ENSP00000263563:D300H	D	+	1	0	KIAA1274	71963711	0.900000	0.30661	0.006000	0.13384	0.013000	0.08279	3.929000	0.56514	2.507000	0.84556	0.561000	0.74099	GAT	PALD1	-	smart_Tyr_Pase_cat		0.652	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	G	NM_014431		72293705	1	no_errors	ENST00000263563	ensembl	human	known	70_37	missense	SNP	0.008	C	C	72293705	G	C	72293705	3	2	160	1	0	0	0	0	1	0	0	0	8240	1290	45	1	924	1	KIAA1274	10	72293705	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1151248	72293705	63241042	1187	29460										
OIT3	170392	genome.wustl.edu	37	chr10	74684129	74684129	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccacgcctgtacaccatttCtgaaggatacgttcccaacc	6	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:74684129C>A	ENST00000334011.5	+	7	1312	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	365	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TACACCATTTCTGAAGGATAC	0.537																																					Colon(7;19 345 13446 17537)												0													71	71	71					10																	74684129		2203	4300	6503	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1094C>A	10.37:g.74684129C>A	ENSP00000333900:p.Ser365Tyr		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S365Y	ENST00000334011.5	37	c.1094	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794652	0.90453	.	.	ENSG00000138315	ENST00000334011	D	0.84873	-1.91	5.72	5.72	0.89469	Zona pellucida sperm-binding protein (3);	0.000000	0.56097	D	0.000024	D	0.91998	0.7465	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91543	0.5251	10	0.54805	T	0.06	-21.3215	19.879	0.96888	0.0:1.0:0.0:0.0	.	365	Q8WWZ8	OIT3_HUMAN	Y	365	ENSP00000333900:S365Y	ENSP00000333900:S365Y	S	+	2	0	OIT3	74354135	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.525000	0.81892	2.695000	0.91970	0.655000	0.94253	TCT	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	C	NM_152635		74684129	1	no_errors	ENST00000334011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74684129	C	A	74684129	3	1	160	1	0	0	0	0	1	0	0	0	10873	913	32	3	1120	3	OIT3	10	74684129	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2390424	74684129	60850618	1188	29461										
PLA2G12B	84647	genome.wustl.edu	37	chr10	74695429	74695429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagctgcccgctgactattCataaaggggcggcagcccaa	11	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:74695429C>T	ENST00000373032.3	-	4	626	c.534G>A	c.(532-534)atG>atA	p.M178I		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	178					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCTGACTATTCATAAAGGGGC	0.498																																																	0													106	96	99					10																	74695429		2203	4300	6503	SO:0001583	missense	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.534G>A	10.37:g.74695429C>T	ENSP00000362123:p.Met178Ile		B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.M178I	ENST00000373032.3	37	c.534	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.408546	0.96051	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.992	T	0.77515	-0.2559	9	0.62326	D	0.03	-8.3682	20.4008	0.98991	0.0:1.0:0.0:0.0	.	177;178	B7ZL23;Q9BX93	.;PG12B_HUMAN	I	178	.	ENSP00000362123:M178I	M	-	3	0	PLA2G12B	74365435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	ATG	PLA2G12B	-	pfam_PLipase_A2_secretory_G12		0.498	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	C	NM_032562		74695429	-1	no_errors	ENST00000373032	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74695429	C	T	74695429	3	4	160	1	0	0	0	0	1	0	0	0	12015	826	29	1	57	1	PLA2G12B	10	74695429	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11300	74695429	60839318	1189	29462										
TTC18	118491	genome.wustl.edu	37	chr10	75072284	75072284	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttttctttcactggtttatCttctttcagattcttagaaa	4	8	6	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:75072284C>G	ENST00000310715.3	-	11	1360	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.D414H|TTC18_ENST00000401621.2_Missense_Mutation_p.D414H	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		414						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACTGGTTTATCTTCTTTCAGA	0.388																																																	0													168	162	164					10																	75072284		2203	4300	6503	SO:0001583	missense	118491																														ENST00000310715.3:c.1240G>C	10.37:g.75072284C>G	ENSP00000310829:p.Asp414His		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D414H	ENST00000310715.3	37	c.1240	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766965	0.69878	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.32515	1.87;1.87;1.45	4.94	4.94	0.65067	.	0.526470	0.19324	N	0.117057	T	0.41880	0.1178	L	0.44542	1.39	0.41503	D	0.988296	D;D	0.59767	0.986;0.976	P;P	0.56434	0.798;0.602	T	0.31503	-0.9941	10	0.72032	D	0.01	-6.6498	14.026	0.64586	0.0:1.0:0.0:0.0	.	414;414	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	H	414	ENSP00000310829:D414H;ENSP00000384479:D414H;ENSP00000378334:D414H	ENSP00000310829:D414H	D	-	1	0	TTC18	74742290	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.748000	0.55142	2.438000	0.82558	0.591000	0.81541	GAT	TTC18	-	NULL		0.388	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		C			75072284	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75072284	C	G	75072284	3	3	160	1	0	0	0	0	1	0	0	0	16716	913	32	1	2197	1	TTC18	10	75072284	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	376855	75072284	60462463	1190	29463										
DLG5	9231	genome.wustl.edu	37	chr10	79593787	79593787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgctcccgcctcaggttgtCacacagtgtcctggtggaag	12	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:79593787C>G	ENST00000372391.2	-	9	1638	c.1633G>C	c.(1633-1635)Gac>Cac	p.D545H	DLG5_ENST00000372388.2_Missense_Mutation_p.D545H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	545					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCAGGTTGTCACACAGTGTC	0.632																																																	0													37	32	34					10																	79593787		2202	4300	6502	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1633G>C	10.37:g.79593787C>G	ENSP00000361467:p.Asp545His		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D545H	ENST00000372391.2	37	c.1633	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933794	0.92458	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06933	3.24;3.34	5.67	5.67	0.87782	.	0.000000	0.41294	D	0.000910	T	0.30572	0.0769	M	0.69358	2.11	0.51767	D	0.999934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00589	-1.1656	10	0.87932	D	0	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	435;545;545	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	H	545	ENSP00000361467:D545H;ENSP00000361464:D545H	ENSP00000361464:D545H	D	-	1	0	DLG5	79263793	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.666000	0.90696	0.561000	0.74099	GAC	DLG5	-	NULL		0.632	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79593787	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	G	G	79593787	C	G	79593787	3	3	160	1	0	0	0	0	1	0	0	0	4568	826	29	1	4222	1	DLG5	10	79593787	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4521503	79593787	55940960	1191	29464										
LRIT2	340745	genome.wustl.edu	37	chr10	85984189	85984189	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcacattctgtcctgcccgGatggtgatattggcactggg	13	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:85984189G>A	ENST00000372113.4	-	2	797	c.792C>T	c.(790-792)atC>atT	p.I264I	LRIT2_ENST00000538192.1_Silent_p.I264I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	264	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTCCTGCCCGGATGGTGATAT	0.537																																																	0													108	94	99					10																	85984189		2203	4300	6503	SO:0001819	synonymous_variant	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.792C>T	10.37:g.85984189G>A			B7ZME6	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I264	ENST00000372113.4	37	c.792	CCDS31234.1	10																																																																																			LRIT2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.537	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	G	XM_291697		85984189	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	silent	SNP	0.052	A	A	85984189	G	A	85984189	2	1	160	1	0	0	0	0	0	0	0	1	8971	1164	41	1		1	LRIT2	10	85984189	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6390402	85984189	49550558	1192	29465										
AGAP11	119385	genome.wustl.edu	37	chr10	88768653	88768653	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgcatatgtcagccaattCagacatcgggctgggtgact	11	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:88768653C>T	ENST00000444431.1	+	0	3253				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TCAGCCAATTCAGACATCGGG	0.557																																																	0													96	105	102					10																	88768653		2203	4300	6503			119385					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768653C>T			B9EIP7|D3DWE4	RNA	SNP	-	NULL	ENST00000444431.1	37	NULL		10																																																																																			AGAP11	-	-		0.557	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	AGAP11	HGNC	processed_transcript	OTTHUMT00000049193.1	C	NM_133447		88768653	1	no_errors	ENST00000433214	ensembl	human	known	70_37	rna	SNP	0.988	T	T	88768653	C	T	88768653	1	4	160	0	1	0	0	0	0	0	0	0	367	838	29	1		1	AGAP11	10	88768653	RNA	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2784464	88768653	46766094	1193	29466										
FAS	355	genome.wustl.edu	37	chr10	90773992	90773992	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaatagatgagatcaagaatGacaatgtccaagacacagca	8	7	1	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:90773992G>C	ENST00000355740.2	+	9	1013	c.793G>C	c.(793-795)Gac>Cac	p.D265H	RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.D244H|FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	GATCAAGAATGACAATGTCCA	0.373																																																	0													128	119	122					10																	90773992		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.793G>C	10.37:g.90773992G>C	ENSP00000347979:p.Asp265His		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.D265H	ENST00000355740.2	37	c.793	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726394	0.30593	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.94497	-3.44;-3.44	4.65	1.6	0.23607	Death (3);DEATH-like (2);	2.843700	0.01218	N	0.008038	D	0.93530	0.7935	M	0.79258	2.445	0.34795	D	0.736082	P;P	0.39250	0.613;0.665	B;B	0.33799	0.104;0.17	D	0.84347	0.0530	10	0.72032	D	0.01	-26.9019	7.2215	0.25990	0.3103:0.0:0.6897:0.0	.	244;265	P25445-6;P25445	.;TNR6_HUMAN	H	292;265;244	ENSP00000347979:D265H;ENSP00000349896:D244H	ENSP00000347979:D265H	D	+	1	0	FAS	90763972	0.288000	0.24324	0.817000	0.32601	0.833000	0.47200	1.089000	0.30890	0.211000	0.20683	0.650000	0.86243	GAC	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.373	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90773992	1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	0.491	C	C	90773992	G	C	90773992	3	2	160	1	0	0	0	0	1	0	0	0	5699	1290	45	1	827	1	FAS	10	90773992	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2005339	90773992	44760755	1194	29467										
IFIT1	3434	genome.wustl.edu	37	chr10	91163267	91163267	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tataaaaatagaacaggcatCattaacaagggataaaagta	7	4	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:91163267C>G	ENST00000371804.3	+	2	1402	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Nonsense_Mutation_p.S381*	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	412					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GAACAGGCATCATTAACAAGG	0.348																																																	0													51	53	52					10																	91163267		2203	4299	6502	SO:0001587	stop_gained	3434			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1235C>G	10.37:g.91163267C>G	ENSP00000360869:p.Ser412*		B3KS50|D3DR31|Q5T7J1|Q96QM5	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S412*	ENST00000371804.3	37	c.1235	CCDS31243.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.193593	0.99645	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	.	.	.	5.47	4.56	0.56223	.	0.228402	0.38058	U	0.001828	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	8.6012	0.33745	0.0:0.7627:0.1528:0.0846	.	.	.	.	X	412;381	.	ENSP00000360869:S412X	S	+	2	0	IFIT1	91153247	0.002000	0.14202	0.022000	0.16811	0.002000	0.02628	1.214000	0.32419	1.399000	0.46721	0.650000	0.86243	TCA	IFIT1	-	NULL		0.348	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	C	NM_001548		91163267	1	no_errors	ENST00000371804	ensembl	human	known	70_37	nonsense	SNP	0.006	G	G	91163267	C	G	91163267	4	3	160	1	0	0	0	0	0	1	0	0	7541	838	29	1	1241	1	IFIT1	10	91163267	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	389275	91163267	44371480	1195	29468										
KIF20B	9585	genome.wustl.edu	37	chr10	91532517	91532517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagtaaagaaaatgtgtctCaaccaaaacgagccaaacgg	8	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:91532517C>G	ENST00000371728.3	+	32	5379	c.5314C>G	c.(5314-5316)Caa>Gaa	p.Q1772E	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1802E|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1732E	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1772	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAATGTGTCTCAACCAAAACG	0.318																																																	0													116	113	114					10																	91532517		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5314C>G	10.37:g.91532517C>G	ENSP00000360793:p.Gln1772Glu		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1802E	ENST00000371728.3	37	c.5404		10	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120200	0.20877	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.41400	1.0;1.0;1.0	5.91	2.9	0.33743	.	0.664755	0.12585	N	0.456091	T	0.27798	0.0684	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.26547	0.092;0.152	B;B	0.25140	0.024;0.058	T	0.21484	-1.0244	10	0.62326	D	0.03	0.0056	6.8021	0.23756	0.4283:0.4912:0.0:0.0806	.	1772;1732	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	E	1732;1802;1772	ENSP00000260753:Q1732E;ENSP00000411545:Q1802E;ENSP00000360793:Q1772E	ENSP00000260753:Q1732E	Q	+	1	0	KIF20B	91522497	0.899000	0.30636	0.668000	0.29813	0.435000	0.31806	2.078000	0.41567	0.826000	0.34661	-0.182000	0.12963	CAA	KIF20B	-	NULL		0.318	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91532517	1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.054	G	G	91532517	C	G	91532517	3	3	160	1	0	0	0	0	1	0	0	0	8307	827	29	1	5316	1	KIF20B	10	91532517	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	369250	91532517	44002230	1196	29469										
TNKS2	80351	genome.wustl.edu	37	chr10	93611064	93611064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taggcacaaactaattaaagGagtcgagagacttatctccg	9	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:93611064G>A	ENST00000371627.4	+	21	3165	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	929	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CTAATTAAAGGAGTCGAGAGA	0.373																																																	0													126	129	128					10																	93611064		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2786G>A	10.37:g.93611064G>A	ENSP00000360689:p.Gly929Glu		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.G929E	ENST00000371627.4	37	c.2786	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.087472	0.94100	.	.	ENSG00000107854	ENST00000371627	D	0.83914	-1.78	5.31	5.31	0.75309	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.56097	D	0.000027	D	0.88507	0.6455	M	0.76838	2.35	0.80722	D	1	P	0.45634	0.863	P	0.49953	0.627	D	0.89721	0.3919	10	0.72032	D	0.01	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	929	Q9H2K2	TNKS2_HUMAN	E	929	ENSP00000360689:G929E	ENSP00000360689:G929E	G	+	2	0	TNKS2	93601044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.642000	0.89623	0.650000	0.86243	GGA	TNKS2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.373	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	G	NM_025235		93611064	1	no_errors	ENST00000371627	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93611064	G	A	93611064	3	1	160	1	0	0	0	0	1	0	0	0	16351	1174	41	1	2868	1	TNKS2	10	93611064	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2078547	93611064	41923683	1197	29470										
EXOC6	54536	genome.wustl.edu	37	chr10	94733981	94733981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcatctttcaagtgtttactCatttgcctgtaagtataaaa	6	7	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:94733981C>G	ENST00000260762.6	+	18	1959	c.1945C>G	c.(1945-1947)Cat>Gat	p.H649D	EXOC6_ENST00000371547.4_Missense_Mutation_p.H665D|EXOC6_ENST00000443748.2_Missense_Mutation_p.H546D|EXOC6_ENST00000371552.4_Missense_Mutation_p.H644D	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	649					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGTGTTTACTCATTTGCCTGT	0.303																																																	0													52	52	52					10																	94733981		2203	4300	6503	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1945C>G	10.37:g.94733981C>G	ENSP00000260762:p.His649Asp		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.H665D	ENST00000260762.6	37	c.1993	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393818	0.42410	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.37	5.37	0.77165	.	0.048961	0.85682	D	0.000000	T	0.40719	0.1128	M	0.70595	2.14	0.58432	D	0.999996	B;P;B;B;B;B	0.43169	0.399;0.8;0.436;0.302;0.436;0.436	B;P;B;B;B;B	0.45232	0.104;0.474;0.315;0.41;0.232;0.232	T	0.36601	-0.9741	10	0.59425	D	0.04	-17.6248	14.0003	0.64429	0.1514:0.8486:0.0:0.0	.	665;546;641;602;649;644	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	D	665;644;546;649	ENSP00000360602:H665D;ENSP00000360607:H644D;ENSP00000396206:H546D;ENSP00000260762:H649D	ENSP00000260762:H649D	H	+	1	0	EXOC6	94723961	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.762000	0.62250	2.483000	0.83821	0.655000	0.94253	CAT	EXOC6	-	pfam_Sec15,pirsf_Sec15		0.303	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	C	NM_019053		94733981	1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	G	G	94733981	C	G	94733981	3	3	160	1	0	0	0	0	1	0	0	0	5320	826	29	1	2105	1	EXOC6	10	94733981	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1122917	94733981	40800766	1198	29471										
CYP26A1	1592	genome.wustl.edu	37	chr10	94836399	94836399	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attaaggagacccttcgactGaatcccccagttccaggagg	10	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:94836399G>T	ENST00000224356.4	+	6	1143	c.1098G>T	c.(1096-1098)ctG>ctT	p.L366L	CYP26A1_ENST00000371531.1_Silent_p.L297L|CYP26A1_ENST00000394139.1_Silent_p.L297L	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	366					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CCCTTCGACTGAATCCCCCAG	0.383																																																	0													96	98	97					10																	94836399		2203	4300	6503	SO:0001819	synonymous_variant	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1098G>T	10.37:g.94836399G>T			B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.L366	ENST00000224356.4	37	c.1098	CCDS7426.1	10																																																																																			CYP26A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B		0.383	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	HGNC	protein_coding	OTTHUMT00000049408.3	G			94836399	1	no_errors	ENST00000224356	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94836399	G	T	94836399	2	4	160	1	0	0	0	0	0	0	0	1	4160	1277	45	3		3	CYP26A1	10	94836399	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	102418	94836399	40698348	1199	29472										
MYOF	26509	genome.wustl.edu	37	chr10	95111499	95111499	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggggttccccatagatttCaacttcatcgaatataattg	7	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:95111499C>G	ENST00000359263.4	-	33	3585	c.3586G>C	c.(3586-3588)Gaa>Caa	p.E1196Q	MYOF_ENST00000371502.4_Missense_Mutation_p.E1196Q|MYOF_ENST00000371501.4_Missense_Mutation_p.E1196Q|MYOF_ENST00000358334.5_Missense_Mutation_p.E1183Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1196	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATAGATTTCAACTTCATCG	0.408																																																	0													116	113	114					10																	95111499		1824	4083	5907	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3586G>C	10.37:g.95111499C>G	ENSP00000352208:p.Glu1196Gln		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.E1196Q	ENST00000359263.4	37	c.3586	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832852	0.91036	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049801	0.85682	D	0.000000	T	0.79592	0.4472	L	0.60845	1.875	0.80722	D	1	P;D	0.61080	0.843;0.989	P;D	0.67231	0.668;0.95	T	0.76963	-0.2764	10	0.41790	T	0.15	-27.9773	19.9826	0.97334	0.0:1.0:0.0:0.0	.	1183;1196	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	1183;1196;1196;1196	ENSP00000351094:E1183Q;ENSP00000352208:E1196Q;ENSP00000360556:E1196Q;ENSP00000360557:E1196Q	ENSP00000351094:E1183Q	E	-	1	0	MYOF	95101489	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.818000	0.86416	2.734000	0.93682	0.650000	0.86243	GAA	MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.408	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	C	NM_013451		95111499	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95111499	C	G	95111499	3	3	160	1	0	0	0	0	1	0	0	0	10112	835	29	1	2687	1	MYOF	10	95111499	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	275100	95111499	40423248	1200	29473										
PLCE1	51196	genome.wustl.edu	37	chr10	96064319	96064319	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaacctccagttctgtggGacaagaactgccccatgtat	9	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:96064319G>C	ENST00000371380.3	+	24	5774	c.5539G>C	c.(5539-5541)Gac>Cac	p.D1847H	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1847H|PLCE1_ENST00000371385.3_Missense_Mutation_p.D1539H|PLCE1_ENST00000371375.1_Missense_Mutation_p.D1539H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1847					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTTCTGTGGGACAAGAACTG	0.418																																																	0													192	174	180					10																	96064319		1897	4112	6009	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5539G>C	10.37:g.96064319G>C	ENSP00000360431:p.Asp1847His		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D1847H	ENST00000371380.3	37	c.5539	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015132	0.93404	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79024	-0.1972	10	0.87932	D	0	.	19.6641	0.95886	0.0:0.0:1.0:0.0	.	1831;1539;1847	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	H	1847;1847;1539;1539	ENSP00000260766:D1847H;ENSP00000360431:D1847H;ENSP00000360438:D1539H;ENSP00000360426:D1539H	ENSP00000260766:D1847H	D	+	1	0	PLCE1	96054309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.789000	0.99068	2.758000	0.94735	0.561000	0.74099	GAC	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.418	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96064319	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96064319	G	C	96064319	3	2	160	1	0	0	0	0	1	0	0	0	12058	1174	41	1	5919	1	PLCE1	10	96064319	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	952820	96064319	39470428	1201	29474										
CYP2C19	1557	genome.wustl.edu	37	chr10	96522580	96522580	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctactcctctcccagtgattGgaaatatcctacagatagat	6	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:96522580G>C	ENST00000371321.3	+	1	200	c.118G>C	c.(118-120)Gga>Cga	p.G40R	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	40					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCAGTGATTGGAAATATCCT	0.443																																																	0													112	113	112					10																	96522580		2203	4300	6503	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.118G>C	10.37:g.96522580G>C	ENSP00000360372:p.Gly40Arg		P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G40R	ENST00000371321.3	37	c.118	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406610	0.42715	.	.	ENSG00000165841	ENST00000371321	T	0.24151	1.87	4.15	4.15	0.48705	.	0.000000	0.64402	U	0.000002	T	0.61110	0.2321	H	0.95365	3.66	0.33239	D	0.556915	D	0.89917	1.0	D	0.97110	1.0	T	0.78929	-0.2010	10	0.87932	D	0	.	11.9638	0.53023	0.0:0.0:1.0:0.0	.	40	P33261	CP2CJ_HUMAN	R	40	ENSP00000360372:G40R	ENSP00000360372:G40R	G	+	1	0	CYP2C19	96512570	1.000000	0.71417	0.922000	0.36590	0.218000	0.24690	4.036000	0.57304	1.851000	0.53745	0.391000	0.25812	GGA	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.443	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	G	NM_000769		96522580	1	no_errors	ENST00000371321	ensembl	human	known	70_37	missense	SNP	0.994	C	C	96522580	G	C	96522580	3	2	160	1	0	0	0	0	1	0	0	0	4171	1349	47	4	120	4	CYP2C19	10	96522580	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	458261	96522580	39012167	1202	29475										
SORBS1	10580	genome.wustl.edu	37	chr10	97096727	97096727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcctgggaagtaggtgctaGggagtaggttttgtgtgggg	21	3	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:97096727G>A	ENST00000361941.3	-	28	3216	c.3190C>T	c.(3190-3192)Cta>Tta	p.L1064L	SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371227.4_Silent_p.L1018L|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371247.2_Silent_p.L1064L|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTAGGTGCTAGGGAGTAGGTT	0.567																																																	0													158	143	148					10																	97096727		2203	4300	6503	SO:0001819	synonymous_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3190C>T	10.37:g.97096727G>A				Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.L1064	ENST00000361941.3	37	c.3190	CCDS31255.1	10																																																																																			SORBS1	-	NULL		0.567	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	G			97096727	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	silent	SNP	0.000	A	A	97096727	G	A	97096727	2	1	160	1	0	0	0	0	0	0	0	1	14957	991	35	4		4	SORBS1	10	97096727	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	574147	97096727	38438020	1203	29476										
ALDH18A1	5832	genome.wustl.edu	37	chr10	97396862	97396862	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctctcacctgggcagcacaGatgctgtactgggtaaacat	10	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:97396862G>A	ENST00000371224.2	-	5	683	c.546C>T	c.(544-546)atC>atT	p.I182I	ALDH18A1_ENST00000371221.3_Silent_p.I182I|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	182	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GGGCAGCACAGATGCTGTACT	0.532																																																	0													58	50	53					10																	97396862		2203	4300	6503	SO:0001819	synonymous_variant	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.546C>T	10.37:g.97396862G>A			B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.I182	ENST00000371224.2	37	c.546	CCDS7443.1	10																																																																																			ALDH18A1	-	pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn		0.532	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	G	NM_002860		97396862	-1	no_errors	ENST00000371224	ensembl	human	known	70_37	silent	SNP	1.000	A	A	97396862	G	A	97396862	2	1	160	1	0	0	0	0	0	0	0	1	489	932	33	1		1	ALDH18A1	10	97396862	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	300135	97396862	38137885	1204	29477										
BLNK	29760	genome.wustl.edu	37	chr10	97983584	97983584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcacagatttactttacctCatcctcaaggaggcctttgg	9	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:97983584C>G	ENST00000224337.5	-	6	664	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	BLNK_ENST00000413476.2_Missense_Mutation_p.E175Q|BLNK_ENST00000371176.2_Missense_Mutation_p.E175Q|BLNK_ENST00000427367.2_Missense_Mutation_p.E175Q	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	175	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TACTTTACCTCATCCTCAAGG	0.582																																																	0													116	114	115					10																	97983584		2203	4300	6503	SO:0001583	missense	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.523G>C	10.37:g.97983584C>G	ENSP00000224337:p.Glu175Gln		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.E175Q	ENST00000224337.5	37	c.523	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221457	0.58560	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000428924	.	.	.	6.0	6.0	0.97389	.	0.216928	0.47852	D	0.000203	T	0.74230	0.3689	M	0.77103	2.36	0.50313	D	0.99986	D;D;P;P;P	0.61080	0.989;0.98;0.897;0.877;0.917	P;P;P;P;P	0.55923	0.787;0.711;0.645;0.494;0.529	T	0.69584	-0.5106	9	0.18710	T	0.47	-31.2991	17.4123	0.87489	0.0:1.0:0.0:0.0	.	175;175;175;175;175	Q2MD54;Q2MD49;Q8WV28-2;Q2MD52;Q8WV28	.;.;.;.;BLNK_HUMAN	Q	175	.	ENSP00000224337:E175Q	E	-	1	0	BLNK	97973574	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	4.286000	0.58995	2.849000	0.98006	0.609000	0.83330	GAG	BLNK	-	NULL		0.582	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	C	NM_013314		97983584	-1	no_errors	ENST00000224337	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97983584	C	G	97983584	3	3	160	1	0	0	0	0	1	0	0	0	1448	835	29	1	895	1	BLNK	10	97983584	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	586722	97983584	37551163	1205	29478										
RRP12	23223	genome.wustl.edu	37	chr10	99125952	99125952	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgctcaccttgaagccgtGgtccttcttcctgccccggc	11	17	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:99125952G>C	ENST00000370992.4	-	29	3541	c.3430C>G	c.(3430-3432)Cac>Gac	p.H1144D	RRP12_ENST00000315563.6_Missense_Mutation_p.H1044D|RRP12_ENST00000414986.1_Missense_Mutation_p.H1083D|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.H862D	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1144						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGAAGCCGTGGTCCTTCTTC	0.622																																																	0													122	97	106					10																	99125952		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3430C>G	10.37:g.99125952G>C	ENSP00000360031:p.His1144Asp		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.H1144D	ENST00000370992.4	37	c.3430	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220436	0.79464	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.28255	1.62;1.62;1.62;1.63	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.42581	1.335	0.80722	D	1	D;B;D;P	0.67145	0.996;0.24;0.982;0.899	P;B;P;B	0.57846	0.743;0.123;0.828;0.367	T	0.07520	-1.0768	10	0.07325	T	0.83	-12.5615	12.5015	0.55957	0.0:0.0:0.8333:0.1667	.	1083;1044;862;1144	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	D	1144;1044;1083;862	ENSP00000360031:H1144D;ENSP00000324315:H1044D;ENSP00000414863:H1083D;ENSP00000446184:H862D	ENSP00000324315:H1044D	H	-	1	0	RRP12	99115942	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.328000	0.79160	2.422000	0.82143	0.555000	0.69702	CAC	RRP12	-	NULL		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	G	NM_015179		99125952	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99125952	G	C	99125952	3	2	160	1	0	0	0	0	1	0	0	0	13716	1348	47	4	487	4	RRP12	10	99125952	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1142368	99125952	36408795	1206	29479										
CNNM1	26507	genome.wustl.edu	37	chr10	101090206	101090206	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgcggcacgggctggccatCgcctcgcacagcgtgtgcct	14	16	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:101090206C>T	ENST00000356713.4	+	1	1351	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CNNM1_ENST00000370528.3_Silent_p.I283I|CNNM1_ENST00000370534.4_5'UTR|CNNM1_ENST00000446890.1_Silent_p.I283I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	354	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGCTGGCCATCGCCTCGCACA	0.701																																																	0													8	10	9					10																	101090206		2188	4265	6453	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1062C>T	10.37:g.101090206C>T			Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.I354	ENST00000356713.4	37	c.1062	CCDS7478.2	10																																																																																			CNNM1	-	pfam_DUF21		0.701	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101090206	1	no_errors	ENST00000356713	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101090206	C	T	101090206	2	4	160	1	0	0	0	0	0	0	0	1	3617	874	31	1		1	CNNM1	10	101090206	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1964254	101090206	34444541	1207	29480										
FAM178A	55719	genome.wustl.edu	37	chr10	102684212	102684212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttccaagtgctggttcctCtctagtaccattaaatgcta	7	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:102684212C>G	ENST00000238961.4	+	5	1996	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S485C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S485C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	485						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GCTGGTTCCTCTCTAGTACCA	0.398																																																	0													75	82	80					10																	102684212		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1454C>G	10.37:g.102684212C>G	ENSP00000238961:p.Ser485Cys		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.S485C	ENST00000238961.4	37	c.1454	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379937	0.42207	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.62105	0.05;0.77;0.75	5.95	5.95	0.96441	.	0.000000	0.51477	D	0.000092	T	0.68760	0.3036	N	0.24115	0.695	0.37366	D	0.911433	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.997	T	0.74343	-0.3696	10	0.72032	D	0.01	-13.0187	15.8922	0.79309	0.0:1.0:0.0:0.0	.	134;485;485;485	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	485	ENSP00000359294:S485C;ENSP00000238961:S485C;ENSP00000359292:S485C	ENSP00000238961:S485C	S	+	2	0	FAM178A	102674202	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.320000	0.59203	2.822000	0.97130	0.650000	0.86243	TCT	FAM178A	-	NULL		0.398	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	C			102684212	1	no_errors	ENST00000370269	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102684212	C	G	102684212	3	3	160	1	0	0	0	0	1	0	0	0	5518	913	32	1	1472	1	FAM178A	10	102684212	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1594006	102684212	32850535	1208	29481										
FAM178A	55719	genome.wustl.edu	37	chr10	102685753	102685753	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aataccttagaacgtctagtGaaggaaatggaagacacaca	9	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:102685753G>A	ENST00000238961.4	+	6	2561	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	FAM178A_ENST00000370269.3_Silent_p.V673V|FAM178A_ENST00000370271.3_Silent_p.V673V	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	673						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACGTCTAGTGAAGGAAATGG	0.318																																																	0													116	115	116					10																	102685753		2203	4300	6503	SO:0001819	synonymous_variant	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2019G>A	10.37:g.102685753G>A			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	NULL	p.V673	ENST00000238961.4	37	c.2019	CCDS7500.1	10																																																																																			FAM178A	-	NULL		0.318	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	G			102685753	1	no_errors	ENST00000370269	ensembl	human	known	70_37	silent	SNP	1.000	A	A	102685753	G	A	102685753	2	1	160	1	0	0	0	0	0	0	0	1	5518	1277	45	1		1	FAM178A	10	102685753	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1541	102685753	32848994	1209	29482										
TLX1	3195	genome.wustl.edu	37	chr10	102896478	102896478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcggaggaacgggaggccgaGaggcagcaagcgaaccgcat	18	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:102896478G>A	ENST00000370196.6	+	3	2843	c.801G>A	c.(799-801)gaG>gaA	p.E267E	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	267					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGGAGGCCGAGAGGCAGCAAG	0.662			T	"TRB@, TRD@"	T-ALL																																			Dom	yes		10	10q24	3195	" T-cell leukemia, homeobox 1 (HOX11)"		L	0													56	59	58					10																	102896478		2203	4300	6503	SO:0001819	synonymous_variant	3195			M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"Homeoboxes / ANTP class : NKL subclass"	5056	protein-coding gene	gene with protein product	"Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)", "homeo box 11 (T-cell lymphoma 3-associated breakpoint)"	186770	"homeo box 11 (T-cell lymphoma 3-associated breakpoint)", "T-cell leukemia, homeobox 1"	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.801G>A	10.37:g.102896478G>A			A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E267	ENST00000370196.6	37	c.801	CCDS7510.1	10																																																																																			TLX1	-	NULL		0.662	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLX1	HGNC	protein_coding	OTTHUMT00000051193.3	G	NM_005521		102896478	1	no_errors	ENST00000370196	ensembl	human	known	70_37	silent	SNP	1.000	A	A	102896478	G	A	102896478	2	1	160	1	0	0	0	0	0	0	0	1	15989	933	33	1		1	TLX1	10	102896478	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	210725	102896478	32638269	1210	29483										
XPNPEP1	7511	genome.wustl.edu	37	chr10	111637621	111637621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggtccacaaagtctgcctGttgcctgtaacagaaagaca	9	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:111637621G>A	ENST00000502935.1	-	14	1365	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	XPNPEP1_ENST00000322238.8_Nonsense_Mutation_p.Q416*|XPNPEP1_ENST00000369680.4_Nonsense_Mutation_p.Q373*|XPNPEP1_ENST00000369683.1_Nonsense_Mutation_p.Q302*					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAGTCTGCCTGTTGCCTGTAA	0.502																																																	0													114	104	107					10																	111637621		2203	4300	6503	SO:0001587	stop_gained	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1246C>T	10.37:g.111637621G>A	ENSP00000421566:p.Gln416*			Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.Q416*	ENST00000502935.1	37	c.1246	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.2509	17.5727	0.87939	0.0:0.0:1.0:0.0	.	.	.	.	X	416;302;416;373	.	ENSP00000324011:Q416X	Q	-	1	0	XPNPEP1	111627611	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	9.220000	0.95180	2.575000	0.86900	0.460000	0.39030	CAG	XPNPEP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.502	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	G			111637621	-1	no_errors	ENST00000502935	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	111637621	G	A	111637621	4	1	160	1	0	0	0	0	0	1	0	0	17473	1386	48	4	786	4	XPNPEP1	10	111637621	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8741143	111637621	23897126	1211	29484										
SHOC2	8036	genome.wustl.edu	37	chr10	112724698	112724698	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgtataggctggattctctCaccactctttaccttcgctt	7	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:112724698C>T	ENST00000369452.4	+	2	927	c.582C>T	c.(580-582)ctC>ctT	p.L194L	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.L194L	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	194					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TGGATTCTCTCACCACTCTTT	0.393																																																	0													78	82	81					10																	112724698		2203	4299	6502	SO:0001819	synonymous_variant	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.582C>T	10.37:g.112724698C>T			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L194	ENST00000369452.4	37	c.582	CCDS7568.1	10																																																																																			SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.393	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	C	NM_007373		112724698	1	no_errors	ENST00000369452	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112724698	C	T	112724698	2	4	160	1	0	0	0	0	0	0	0	1	14317	813	29	1		1	SHOC2	10	112724698	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1087077	112724698	22810049	1212	29485										
HABP2	3026	genome.wustl.edu	37	chr10	115341870	115341870	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccacccctgctgggtgctCactgctgcccactgcaccga	9	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:115341870C>T	ENST00000351270.3	+	9	1170	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	HABP2_ENST00000542051.1_Silent_p.L332L|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	358	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCTGGGTGCTCACTGCTGCCC	0.662																																																	0													19	21	21					10																	115341870		2202	4300	6502	SO:0001819	synonymous_variant	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1074C>T	10.37:g.115341870C>T			A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L358	ENST00000351270.3	37	c.1074	CCDS7577.1	10																																																																																			HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.662	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115341870	1	no_errors	ENST00000351270	ensembl	human	known	70_37	silent	SNP	1.000	T	T	115341870	C	T	115341870	2	4	160	1	0	0	0	0	0	0	0	1	6958	813	29	1		1	HABP2	10	115341870	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2617172	115341870	20192877	1213	29486										
SEC23IP	11196	genome.wustl.edu	37	chr10	121680416	121680416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaagcttatgtgtacagttGatgacctgaaggaaatgggg	13	4	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:121680416G>C	ENST00000369075.3	+	12	2113	c.2041G>C	c.(2041-2043)Gat>Cat	p.D681H	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D470H	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	681	SAM.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GTGTACAGTTGATGACCTGAA	0.368																																																	0													157	147	150					10																	121680416		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2041G>C	10.37:g.121680416G>C	ENSP00000358071:p.Asp681His		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.D681H	ENST00000369075.3	37	c.2041	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063382	0.76187	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.55930	0.49;0.49	5.42	5.42	0.78866	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.105036	0.64402	D	0.000002	T	0.66992	0.2846	L	0.53671	1.685	0.58432	D	0.999991	D;P	0.54601	0.967;0.697	P;B	0.61201	0.885;0.44	T	0.68085	-0.5502	10	0.66056	D	0.02	-26.1952	17.7781	0.88515	0.0:0.0:1.0:0.0	.	470;681	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	H	681;470	ENSP00000358071:D681H;ENSP00000438773:D470H	ENSP00000358071:D681H	D	+	1	0	SEC23IP	121670406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.032000	0.70918	2.711000	0.92665	0.655000	0.94253	GAT	SEC23IP	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM		0.368	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	G			121680416	1	no_errors	ENST00000369075	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121680416	G	C	121680416	3	2	160	1	0	0	0	0	1	0	0	0	14023	1290	45	1	2087	1	SEC23IP	10	121680416	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6338546	121680416	13854331	1214	29487										
WDR11	55717	genome.wustl.edu	37	chr10	122633397	122633397	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taccatctcaccagtggtctGctacacaaagagttaagcat	7	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:122633397G>C	ENST00000263461.6	+	11	1764	c.1518G>C	c.(1516-1518)ctG>ctC	p.L506L		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCAGTGGTCTGCTACACAAAG	0.383																																																	0													176	142	154					10																	122633397		2203	4300	6503	SO:0001819	synonymous_variant	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1518G>C	10.37:g.122633397G>C			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L506	ENST00000263461.6	37	c.1518	CCDS7619.1	10																																																																																			WDR11	-	NULL		0.383	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	G			122633397	1	no_errors	ENST00000263461	ensembl	human	known	70_37	silent	SNP	0.961	C	C	122633397	G	C	122633397	2	2	160	1	0	0	0	0	0	0	0	1	17304	1306	46	4		4	WDR11	10	122633397	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	952981	122633397	12901350	1215	29488										
TACC2	10579	genome.wustl.edu	37	chr10	124013521	124013521	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagaataaagaaatagaaGaactcaccaagatttgtgac	8	6	1	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:124013521G>A	ENST00000369005.1	+	23	9137	c.8797G>A	c.(8797-8799)Gaa>Aaa	p.E2933K	TACC2_ENST00000515273.1_Missense_Mutation_p.E2860K|TACC2_ENST00000369000.1_Missense_Mutation_p.E556K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2933K|TACC2_ENST00000513429.1_Missense_Mutation_p.E1079K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2860K|TACC2_ENST00000369001.1_Missense_Mutation_p.E560K|TACC2_ENST00000360561.3_Missense_Mutation_p.E981K|TACC2_ENST00000358010.1_Missense_Mutation_p.E1079K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2811K|TACC2_ENST00000369004.3_Missense_Mutation_p.E993K|TACC2_ENST00000260733.3_Missense_Mutation_p.E1011K|TACC2_ENST00000368999.1_Missense_Mutation_p.E1023K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2933					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)			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)				AGAAATAGAAGAACTCACCAA	0.438																																																	0													108	108	108					10																	124013521		2203	4300	6503	SO:0001583	missense	10579			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.8797G>A	10.37:g.124013521G>A	ENSP00000358001:p.Glu2933Lys		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.E2933K	ENST00000369005.1	37	c.8797	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.299796	0.95574	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	6.06	6.06	0.98353	.	0.000000	0.35555	N	0.003133	T	0.74779	0.3761	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.998;0.999;0.998;0.994;0.998;0.999	T	0.76788	-0.2830	10	0.87932	D	0	-21.8464	20.6282	0.99521	0.0:0.0:1.0:0.0	.	2860;993;2811;2860;981;1011;556;1079;2933	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	K	2933;1079;2860;2811;2933;1079;2860;2846;560;556;981;1023;993;1011	ENSP00000358001:E2933K;ENSP00000425062:E1079K;ENSP00000424467:E2860K;ENSP00000427618:E2811K;ENSP00000334280:E2933K;ENSP00000350701:E1079K;ENSP00000395048:E2860K;ENSP00000357997:E560K;ENSP00000357996:E556K;ENSP00000353763:E981K;ENSP00000357995:E1023K;ENSP00000422815:E993K;ENSP00000260733:E1011K	ENSP00000260733:E1011K	E	+	1	0	TACC2	124003511	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.691000	0.98679	2.871000	0.98454	0.655000	0.94253	GAA	TACC2	-	pfam_TACC		0.438	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	G			124013521	1	no_errors	ENST00000334433	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124013521	G	A	124013521	3	1	160	1	0	0	0	0	1	0	0	0	15532	943	33	1	8955	1	TACC2	10	124013521	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1380124	124013521	11521226	1216	29489										
PSTK	118672	genome.wustl.edu	37	chr10	124746889	124746889	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagatgacatttaagcaaaGatgggtaagagcgaaccatg	12	5	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:124746889G>C	ENST00000368887.3	+	6	1357	c.917G>C	c.(916-918)aGa>aCa	p.R306T	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	306					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		tttaagcaaagatgggtaaga	0.418																																																	0													108	100	102					10																	124746889		2203	4300	6503	SO:0001583	missense	118672			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.917G>C	10.37:g.124746889G>C	ENSP00000357882:p.Arg306Thr		Q6ZSS9	Missense_Mutation	SNP	pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk	p.R306T	ENST00000368887.3	37	c.917	CCDS7633.1	10	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637869	0.29157	.	.	ENSG00000179988	ENST00000368887	T	0.53640	0.61	2.28	1.29	0.21616	.	2.046020	0.03335	U	0.193966	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.28801	0.223	B	0.37267	0.245	T	0.36792	-0.9733	10	0.36615	T	0.2	.	5.8343	0.18599	0.0:0.0:0.6858:0.3142	.	306	Q8IV42	PSTK_HUMAN	T	306	ENSP00000357882:R306T	ENSP00000357882:R306T	R	+	2	0	PSTK	124736879	0.004000	0.15560	0.007000	0.13788	0.793000	0.44817	1.014000	0.29950	0.476000	0.27440	0.655000	0.94253	AGA	PSTK	-	NULL		0.418	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTK	HGNC	protein_coding	OTTHUMT00000050811.1	G	NM_153336		124746889	1	no_errors	ENST00000368887	ensembl	human	known	70_37	missense	SNP	0.010	C	C	124746889	G	C	124746889	3	2	160	1	0	0	0	0	1	0	0	0	12747	942	33	1	939	1	PSTK	10	124746889	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	733368	124746889	10787858	1217	29490										
CHST15	51363	genome.wustl.edu	37	chr10	125804145	125804145	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttgatggcggagaacttGacctcagggtgcagccgcag	14	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:125804145G>A	ENST00000346248.5	-	3	1479	c.837C>T	c.(835-837)gtC>gtT	p.V279V	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.V279V|CHST15_ENST00000421115.1_Silent_p.V279V	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	279					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGAGAACTTGACCTCAGGGT	0.617																																																	0													33	36	35					10																	125804145		2203	4300	6503	SO:0001819	synonymous_variant	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.837C>T	10.37:g.125804145G>A			O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom	p.V279	ENST00000346248.5	37	c.837	CCDS7638.1	10																																																																																			CHST15	-	pfam_Sulfotransferase_dom		0.617	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	G	NM_015892		125804145	-1	no_errors	ENST00000346248	ensembl	human	known	70_37	silent	SNP	0.962	A	A	125804145	G	A	125804145	2	1	160	1	0	0	0	0	0	0	0	1	3408	1277	45	1		1	CHST15	10	125804145	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1057256	125804145	9730602	1218	29491										
CTBP2	1488	genome.wustl.edu	37	chr10	126716145	126716145	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggctcggcggccacgggcaGggcagcgtcctgtggtcggt	20	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:126716145G>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.L62V	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCCACGGGCAGGGCAGCGTCC	0.622																																																	0													76	67	70					10																	126716145		2203	4300	6503	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11420C>G	10.37:g.126716145G>C			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.L62V	ENST00000337195.5	37	c.184	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	8.525	0.869665	0.17322	.	.	ENSG00000175029	ENST00000309035	D	0.96459	-4.02	3.45	0.0982	0.14497	.	1.243120	0.06451	N	0.727657	D	0.91734	0.7386	.	.	.	0.18873	N	0.999985	B	0.06786	0.001	B	0.08055	0.003	T	0.80779	-0.1230	9	0.72032	D	0.01	.	0.971	0.01416	0.3051:0.192:0.3471:0.1557	.	62	P56545-2	.	V	62	ENSP00000311825:L62V	ENSP00000311825:L62V	L	-	1	2	CTBP2	126706135	0.998000	0.40836	0.003000	0.11579	0.746000	0.42486	0.614000	0.24314	-0.105000	0.12132	0.655000	0.94253	CTG	CTBP2	-	NULL		0.622	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	G	NM_001083914		126716145	-1	no_errors	ENST00000309035	ensembl	human	known	70_37	missense	SNP	0.170	C	C	126716145	G	C	126716145	1	2	160	0	1	0	0	0	0	0	0	0	4003	991	35	4		4	CTBP2	10	126716145	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	912000	126716145	8818602	1219	29492										
UROS	7390	genome.wustl.edu	37	chr10	127503687	127503687	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgagtcccccgtaatcttCaggatgagaaagctgcacac	9	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:127503687C>G	ENST00000368797.4	-	4	384	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	UROS_ENST00000368786.1_Missense_Mutation_p.E54Q|UROS_ENST00000368778.3_Missense_Mutation_p.E54Q|UROS_ENST00000368774.1_Missense_Mutation_p.E54Q	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	54					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CCGTAATCTTCAGGATGAGAA	0.433																																																	0													83	82	82					10																	127503687		2203	4300	6503	SO:0001583	missense	7390			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"congenital erythropoietic porphyria"	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.160G>C	10.37:g.127503687C>G	ENSP00000357787:p.Glu54Gln		B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.E54Q	ENST00000368797.4	37	c.160	CCDS7648.1	10	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013382	0.54468	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21	5.43	5.43	0.79202	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.85197	2.74	0.51012	D	0.999908	D	0.71674	0.998	D	0.65140	0.932	D	0.96024	0.9011	10	0.46703	T	0.11	-19.0238	16.2647	0.82571	0.0:1.0:0.0:0.0	.	54	P10746	HEM4_HUMAN	Q	54;54;26;54;54	ENSP00000357787:E54Q;ENSP00000357775:E54Q;ENSP00000414833:E26Q;ENSP00000357767:E54Q;ENSP00000357763:E54Q	ENSP00000357763:E54Q	E	-	1	0	UROS	127493677	0.998000	0.40836	0.216000	0.23742	0.846000	0.48090	5.381000	0.66208	2.824000	0.97209	0.655000	0.94253	GAA	UROS	-	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth		0.433	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	HGNC	protein_coding	OTTHUMT00000050929.1	C	NM_000375		127503687	-1	no_errors	ENST00000368786	ensembl	human	known	70_37	missense	SNP	0.609	G	G	127503687	C	G	127503687	3	3	160	1	0	0	0	0	1	0	0	0	17061	835	29	1	665	1	UROS	10	127503687	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	787542	127503687	8031060	1220	29493										
CLRN3	119467	genome.wustl.edu	37	chr10	129682072	129682072	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcagcgacgtgatcaaactCaggaccaggaacaggatagt	12	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:129682072C>G	ENST00000368671.3	-	2	459	c.297G>C	c.(295-297)ctG>ctC	p.L99L		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	99						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGATCAAACTCAGGACCAGGA	0.463																																																	0													134	126	129					10																	129682072		2203	4300	6503	SO:0001819	synonymous_variant	119467			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.297G>C	10.37:g.129682072C>G			Q6MZX8	Silent	SNP	NULL	p.L99	ENST00000368671.3	37	c.297	CCDS7656.1	10																																																																																			CLRN3	-	NULL		0.463	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN3	HGNC	protein_coding	OTTHUMT00000050987.1	C	NM_152311		129682072	-1	no_errors	ENST00000368671	ensembl	human	known	70_37	silent	SNP	0.003	G	G	129682072	C	G	129682072	2	3	160	1	0	0	0	0	0	0	0	1	3564	813	29	1		1	CLRN3	10	129682072	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2178385	129682072	5852675	1221	29494										
TCERG1L	256536	genome.wustl.edu	37	chr10	132902613	132902613	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctcccaggtagaaaatgctGatacctaaagaaagatattc	7	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:132902613G>A	ENST00000368642.4	-	10	1485	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	467	FF 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AGAAAATGCTGATACCTAAAG	0.418																																																	0													43	39	40					10																	132902613		2123	4064	6187	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1400C>T	10.37:g.132902613G>A	ENSP00000357631:p.Ser467Leu		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.S467L	ENST00000368642.4	37	c.1400	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954628	0.73902	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	3.53	3.53	0.40419	FF domain (4);	0.000000	0.56097	D	0.000033	T	0.58524	0.2128	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67948	-0.5538	10	0.87932	D	0	-4.2407	14.1723	0.65517	0.0:0.0:1.0:0.0	.	467	Q5VWI1	TCRGL_HUMAN	L	467	ENSP00000357631:S467L	ENSP00000357631:S467L	S	-	2	0	TCERG1L	132792603	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.565000	0.82337	1.953000	0.56701	0.491000	0.48974	TCA	TCERG1L	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.418	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	G	NM_174937		132902613	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132902613	G	A	132902613	3	1	160	1	0	0	0	0	1	0	0	0	15716	1294	45	1	372	1	TCERG1L	10	132902613	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3220541	132902613	2632134	1222	29495										
BNIP3	664	genome.wustl.edu	37	chr10	133784238	133784238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccctttcttcatgacgctcGtgttcctcatgctgagggtg	10	13	3	2	rs373166452		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:133784238G>C	ENST00000368636.4	-	5	567	c.443C>G	c.(442-444)aCg>aGg	p.T148R	BNIP3_ENST00000540159.1_Missense_Mutation_p.T148R	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	148					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATGACGCTCGTGTTCCTCAT	0.527																																																	0													76	69	72					10																	133784238		2203	4297	6500	SO:0001583	missense	664			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.443C>G	10.37:g.133784238G>C	ENSP00000357625:p.Thr148Arg		O14620|Q96GP0	Missense_Mutation	SNP	pfam_BNIP3	p.T148R	ENST00000368636.4	37	c.443	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115977	0.77323	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	.	0.098661	0.64402	D	0.000001	D	0.83271	0.5218	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.86332	0.1699	9	0.72032	D	0.01	-10.1572	17.9813	0.89141	0.0:0.0:1.0:0.0	.	148	Q12983	BNIP3_HUMAN	R	148	.	ENSP00000357625:T148R	T	-	2	0	BNIP3	133634228	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	5.482000	0.66833	2.423000	0.82170	0.655000	0.94253	ACG	BNIP3	-	pfam_BNIP3		0.527	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	G			133784238	-1	no_errors	ENST00000368636	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133784238	G	C	133784238	3	2	160	1	0	0	0	0	1	0	0	0	1479	1145	40	2	149	2	BNIP3	10	133784238	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	881625	133784238	1750509	1223	29496										
CYP2E1	1571	genome.wustl.edu	37	chr10	135345141	135345141	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacatccggcggttttccctGaccaccctccggaactatgg	10	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr10:135345141G>C	ENST00000463117.2	+	5	662	c.390G>C	c.(388-390)ctG>ctC	p.L130L	SPRN_ENST00000541506.1_Intron|AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Silent_p.L130L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	130					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L130L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGTTTTCCCTGACCACCCTCC	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								1	Substitution - coding silent(1)	lung(1)											104	103	103					10																	135345141		2203	4300	6503	SO:0001819	synonymous_variant	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.390G>C	10.37:g.135345141G>C			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L130	ENST00000463117.2	37	c.390	CCDS7686.1	10																																																																																			CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	G	NM_000773		135345141	1	no_errors	ENST00000252945	ensembl	human	known	70_37	silent	SNP	0.958	C	C	135345141	G	C	135345141	2	2	160	1	0	0	0	0	0	0	0	1	4175	1277	45	1		1	CYP2E1	10	135345141	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1560903	135345141	189606	1224	29497										
ODF3	113746	genome.wustl.edu	37	chr11	198241	198241	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccaagtacgtgttcgactCagcacccagccactccatct	6	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:198241C>G	ENST00000325113.4	+	4	670	c.353C>G	c.(352-354)tCa>tGa	p.S118*	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Nonsense_Mutation_p.S118*	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGTTCGACTCAGCACCCAGC	0.592																																																	0													76	66	69					11																	198241		2203	4300	6503	SO:0001587	stop_gained	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.353C>G	11.37:g.198241C>G	ENSP00000325868:p.Ser118*		B7ZLT0|Q69YX0	Nonsense_Mutation	SNP	pfam_SHIPPO-rpt	p.S118*	ENST00000325113.4	37	c.353	CCDS7688.1	11	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705317	0.48412	.	.	ENSG00000177947	ENST00000325113;ENST00000525282	.	.	.	4.21	3.29	0.37713	.	0.188154	0.25756	N	0.028510	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.1343	8.2635	0.31799	0.0:0.8906:0.0:0.1094	.	.	.	.	X	118	.	ENSP00000325868:S118X	S	+	2	0	ODF3	188241	0.477000	0.25909	0.746000	0.31095	0.283000	0.27025	2.144000	0.42197	1.115000	0.41800	0.561000	0.74099	TCA	ODF3	-	NULL		0.592	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3	HGNC	protein_coding	OTTHUMT00000239287.1	C			198241	1	no_errors	ENST00000325113	ensembl	human	known	70_37	nonsense	SNP	0.849	G	G	198241	C	G	198241	4	3	160	1	0	0	0	0	0	1	0	0	10853	838	29	1	363	1	ODF3	11	198241	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		198241	134808275	1225	29498										
IFITM3	10410	genome.wustl.edu	37	chr11	320663	320663	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggtcgggcacggaggtctCgctgcggatgtggatcacgg	18	9	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:320663C>G	ENST00000399808.4	-	1	387	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.E30Q|IFITM3_ENST00000602735.1_Missense_Mutation_p.E30Q|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	51					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACGGAGGTCTCGCTGCGGATG	0.622																																																	0													91	96	94					11																	320663		2049	4167	6216	SO:0001583	missense	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.151G>C	11.37:g.320663C>G	ENSP00000382707:p.Glu51Gln		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.E51Q	ENST00000399808.4	37	c.151	CCDS41585.1	11	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339671	0.60963	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	D;D	0.85556	-2.0;-2.0	4.65	3.69	0.42338	.	0.189170	0.30820	U	0.008806	D	0.88518	0.6458	M	0.86651	2.83	0.09310	N	1	P	0.39376	0.67	P	0.46320	0.512	T	0.82460	-0.0446	10	0.52906	T	0.07	-11.866	10.7295	0.46087	0.0:0.8077:0.1923:0.0	.	51	Q01628	IFM3_HUMAN	Q	51;35;30	ENSP00000382707:E51Q;ENSP00000432108:E30Q	ENSP00000372047:E35Q	E	-	1	0	IFITM3	310663	0.037000	0.19845	0.014000	0.15608	0.039000	0.13416	1.383000	0.34385	2.409000	0.81822	0.467000	0.42956	GAG	IFITM3	-	pfam_Interferon-induced_TM_protein		0.622	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM3	HGNC	protein_coding	OTTHUMT00000384765.1	C	NM_021034		320663	-1	no_errors	ENST00000399808	ensembl	human	known	70_37	missense	SNP	0.003	G	G	320663	C	G	320663	3	3	160	1	0	0	0	0	1	0	0	0	7548	893	31	1	258	1	IFITM3	11	320663	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	122422	320663	134685853	1226	29499										
PHRF1	57661	genome.wustl.edu	37	chr11	591399	591399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacagaatgccaattcctgtCcagttgatcgaactctattt	6	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:591399C>G	ENST00000264555.5	+	5	564	c.436C>G	c.(436-438)Cca>Gca	p.P146A	PHRF1_ENST00000413872.2_Missense_Mutation_p.P145A|PHRF1_ENST00000533464.1_Missense_Mutation_p.P142A|PHRF1_ENST00000416188.2_Missense_Mutation_p.P146A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	146					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAATTCCTGTCCAGTTGATCG	0.388																																																	0													131	124	126					11																	591399		1917	4124	6041	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.436C>G	11.37:g.591399C>G	ENSP00000264555:p.Pro146Ala		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P146A	ENST00000264555.5	37	c.436		11	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705138	0.68615	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.15	4.15	0.48705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.34676	U	0.003763	D	0.97920	0.9316	H	0.94222	3.51	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99153	1.0859	10	0.87932	D	0	-11.475	15.3666	0.74526	0.0:1.0:0.0:0.0	.	142;145;146;146	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	A	146;145;146;142	ENSP00000264555:P146A;ENSP00000388589:P145A;ENSP00000410626:P146A;ENSP00000431870:P142A	ENSP00000264555:P146A	P	+	1	0	PHRF1	581399	1.000000	0.71417	0.975000	0.42487	0.670000	0.39368	6.368000	0.73104	2.155000	0.67459	0.501000	0.49751	CCA	PHRF1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.388	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		591399	1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	1.000	G	G	591399	C	G	591399	3	3	160	1	0	0	0	0	1	0	0	0	11885	855	30	1	450	1	PHRF1	11	591399	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	270736	591399	134415117	1227	29500										
CEND1	51286	genome.wustl.edu	37	chr11	788163	788163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaaggccacaccgagaatCagggctatggctgccacggc	14	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:788163C>T	ENST00000330106.4	-	2	589	c.414G>A	c.(412-414)ctG>ctA	p.L138L	CEND1_ENST00000524587.1_5'Flank	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	138					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCGAGAATCAGGGCTATGG	0.652																																																	0													12	14	14					11																	788163		2188	4286	6474	SO:0001819	synonymous_variant	51286			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.414G>A	11.37:g.788163C>T			Q9NYM6	Silent	SNP	NULL	p.L138	ENST00000330106.4	37	c.414	CCDS7714.1	11																																																																																			CEND1	-	NULL		0.652	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1	C	NM_016564		788163	-1	no_errors	ENST00000330106	ensembl	human	known	70_37	silent	SNP	0.959	T	T	788163	C	T	788163	2	4	160	1	0	0	0	0	0	0	0	1	3230	813	29	1		1	CEND1	11	788163	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	196764	788163	134218353	1228	29501										
PNPLA2	57104	genome.wustl.edu	37	chr11	821706	821706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccctgcacccctccttcaAcctggtaaagatcatccgca	5	19	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:821706A>G	ENST00000336615.4	+	3	468	c.266A>G	c.(265-267)aAc>aGc	p.N89S	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	89	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCTCCTTCAACCTGGTAAAG	0.602																																																	0													61	57	58					11																	821706		2203	4299	6502	SO:0001583	missense	57104			AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"Patatin-like phospholipase domain containing"	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.266A>G	11.37:g.821706A>G	ENSP00000337701:p.Asn89Ser		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.N89S	ENST00000336615.4	37	c.266	CCDS7718.1	11	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293951	0.81025	.	.	ENSG00000177666	ENST00000336615	T	0.76448	-1.02	4.24	4.24	0.50183	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.58428	1.81	0.80722	D	1	P	0.46395	0.877	P	0.55667	0.781	T	0.82904	-0.0226	10	0.48119	T	0.1	-31.182	13.4886	0.61382	1.0:0.0:0.0:0.0	.	89	Q96AD5	PLPL2_HUMAN	S	89	ENSP00000337701:N89S	ENSP00000337701:N89S	N	+	2	0	PNPLA2	811706	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.199000	0.77831	1.781000	0.52344	0.459000	0.35465	AAC	PNPLA2	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.602	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA2	HGNC	protein_coding	OTTHUMT00000257106.1	A	NM_020376		821706	1	no_errors	ENST00000336615	ensembl	human	known	70_37	missense	SNP	1.000	G	G	821706	A	G	821706	3	3	160	1	0	0	0	0	1	0	0	0	12189	43	2	5	272	5	PNPLA2	11	821706	Missense_Mutation	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	33543	821706	134184810	1229	29502										
AP2A2	161	genome.wustl.edu	37	chr11	1008050	1008050	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcccgtggacccgaccgtgGaggggggcgcgcaggtgcag	20	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1008050G>C	ENST00000448903.2	+	18	2476	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	AP2A2_ENST00000332231.5_Missense_Mutation_p.E780Q|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	779					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCGACCGTGGAGGGGGGCGC	0.627																																																	0													21	26	24					11																	1008050		2032	4151	6183	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2335G>C	11.37:g.1008050G>C	ENSP00000413234:p.Glu779Gln		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.E780Q	ENST00000448903.2	37	c.2338	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829566	0.32329	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.45276	0.9;0.9	4.12	4.12	0.48240	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.119201	0.53938	D	0.000041	T	0.35740	0.0942	L	0.35288	1.05	0.49798	D	0.999829	B	0.24186	0.099	B	0.32090	0.14	T	0.12837	-1.0532	10	0.16420	T	0.52	-59.0921	17.2253	0.86967	0.0:0.0:1.0:0.0	.	779	O94973	AP2A2_HUMAN	Q	779;780;516;519	ENSP00000413234:E779Q;ENSP00000327694:E780Q	ENSP00000327694:E780Q	E	+	1	0	AP2A2	998050	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	7.732000	0.84908	2.244000	0.73946	0.185000	0.17295	GAG	AP2A2	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.627	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	G	NM_012305		1008050	1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1008050	G	C	1008050	3	2	160	1	0	0	0	0	1	0	0	0	740	1175	41	1	2405	1	AP2A2	11	1008050	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	186344	1008050	133998466	1230	29503										
MUC6	4588	genome.wustl.edu	37	chr11	1031828	1031828	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctacccgatgtccttgactGagatgatggcttcgctcaca	9	13	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1031828G>C	ENST00000421673.2	-	3	391	c.341C>G	c.(340-342)tCa>tGa	p.S114*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	114	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCTTGACTGAGATGATGGC	0.667																																																	0													22	25	24					11																	1031828		2041	4173	6214	SO:0001587	stop_gained	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.341C>G	11.37:g.1031828G>C	ENSP00000406861:p.Ser114*		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S114*	ENST00000421673.2	37	c.341	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309763	0.60414	.	.	ENSG00000184956	ENST00000421673;ENST00000525923	.	.	.	3.75	3.75	0.43078	.	0.000000	0.30419	U	0.009669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.5524	0.76164	0.0:0.0:1.0:0.0	.	.	.	.	X	114;138	.	ENSP00000406861:S114X	S	-	2	0	MUC6	1021828	0.002000	0.14202	0.735000	0.30896	0.287000	0.27160	0.909000	0.28558	1.822000	0.53115	0.462000	0.41574	TCA	MUC6	-	pfam_VWF_type-D,smart_VWF_type-D		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1031828	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	nonsense	SNP	0.910	C	C	1031828	G	C	1031828	4	2	160	1	0	0	0	0	0	1	0	0	10003	1294	45	1	7102	1	MUC6	11	1031828	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	23778	1031828	133974688	1231	29504										
MUC2	4583	genome.wustl.edu	37	chr11	1095202	1095202	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctcactgagctgtacgttgGagttctataactggtcctgc	11	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1095202G>C	ENST00000441003.2	+	32	6049	c.6022G>C	c.(6022-6024)Gag>Cag	p.E2008Q	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.E146Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4370					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.E2008*(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGTACGTTGGAGTTCTATAA	0.587																																																	1	Substitution - Nonsense(1)	lung(1)											84	104	97					11																	1095202		2150	4236	6386	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6022G>C	11.37:g.1095202G>C	ENSP00000415183:p.Glu2008Gln		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.E2008Q	ENST00000441003.2	37	c.6022		11	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.261027	0.01445	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.29655	2.58;1.56	3.35	-0.159	0.13379	.	.	.	.	.	T	0.19685	0.0473	N	0.25647	0.755	0.09310	N	1	B	0.24043	0.096	B	0.19666	0.026	T	0.25779	-1.0122	9	0.18276	T	0.48	.	12.1768	0.54190	0.0:0.7096:0.2904:0.0	.	2008	E7EUV1	.	Q	2008;146	ENSP00000415183:E2008Q;ENSP00000354885:E146Q	ENSP00000354885:E146Q	E	+	1	0	MUC2	1085202	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.007000	0.13174	-0.166000	0.10890	0.491000	0.48974	GAG	MUC2	-	NULL		0.587	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1095202	1	no_errors	ENST00000441003	ensembl	human	known	70_37	missense	SNP	0.003	C	C	1095202	G	C	1095202	3	2	160	1	0	0	0	0	1	0	0	0	9998	1175	41	1	6140	1	MUC2	11	1095202	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	63374	1095202	133911314	1232	29505										
TOLLIP	54472	genome.wustl.edu	37	chr11	1298482	1298482	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggctacagacagcgggcatCcctggaagcaaagatcaagt	13	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:1298482C>T	ENST00000317204.6	-	6	735	c.612G>A	c.(610-612)ggG>ggA	p.G204G	TOLLIP_ENST00000527886.1_Splice_Site_p.G135G|TOLLIP_ENST00000263646.7_Splice_Site_p.G176G|TOLLIP_ENST00000542915.1_Splice_Site_p.G154G|TOLLIP_ENST00000527938.1_Splice_Site_p.G62E|TOLLIP_ENST00000525159.1_Splice_Site_p.G143G	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	204					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CAGCGGGCATCCCTGGAAGCA	0.612																																																	0													28	29	29					11																	1298482		2201	4299	6500	SO:0001630	splice_region_variant	54472			AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.611-1G>A	11.37:g.1298482C>T			B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	NULL	p.G62E	ENST00000317204.6	37	c.185	CCDS7723.1	11	.	.	.	.	.	.	.	.	.	.	C	7.661	0.684963	0.14973	.	.	ENSG00000078902	ENST00000527938	.	.	.	4.25	-7.71	0.01254	.	0.059078	0.64402	D	0.000002	T	0.52158	0.1717	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58194	-0.7679	6	0.87932	D	0	.	4.2733	0.10797	0.1749:0.1945:0.0824:0.5481	.	.	.	.	E	62	.	ENSP00000432778:G62E	G	-	2	0	TOLLIP	1255058	0.000000	0.05858	0.799000	0.32177	0.127000	0.20565	-3.306000	0.00518	-1.248000	0.02503	-0.300000	0.09419	GGA	TOLLIP	-	NULL		0.612	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TOLLIP	HGNC	protein_coding	OTTHUMT00000257162.2	C	NM_019009	Silent	1298482	-1	no_errors	ENST00000527938	ensembl	human	putative	70_37	missense	SNP	0.058	T	T	1298482	C	T	1298482	5	4	160	1	0	0	0	0	0	0	1	0	16380	869	30	1	216	1	TOLLIP	11	1298482	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	203280	1298482	133708034	1233	29506										
CARS	833	genome.wustl.edu	37	chr11	3050644	3050644	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtagaatccagccagtcagaGagcaaatccttggcttcttc	9	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:3050644G>C	ENST00000397111.5	-	7	827	c.582C>G	c.(580-582)ctC>ctG	p.L194L	CARS_ENST00000380525.4_Silent_p.L277L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Silent_p.L207L|CARS_ENST00000397114.3_Silent_p.L184L|CARS_ENST00000278224.9_Silent_p.L194L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	194					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCCAGTCAGAGAGCAAATCCT	0.507			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													72	74	73					11																	3050644		2202	4298	6500	SO:0001819	synonymous_variant	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.582C>G	11.37:g.3050644G>C			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.L277	ENST00000397111.5	37	c.831	CCDS7742.1	11																																																																																			CARS	-	pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase		0.507	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	G	NM_001751		3050644	-1	no_errors	ENST00000380525	ensembl	human	known	70_37	silent	SNP	0.541	C	C	3050644	G	C	3050644	2	2	160	1	0	0	0	0	0	0	0	1	2662	929	33	1		1	CARS	11	3050644	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1752162	3050644	131955872	1234	29507										
RHOG	391	genome.wustl.edu	37	chr11	3848823	3848823	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgcaggaccgcccacgcttGatcggcgtggggttgagcac	15	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:3848823G>C	ENST00000351018.4	-	2	703	c.546C>G	c.(544-546)atC>atG	p.I182M	RHOG_ENST00000533217.1_Missense_Mutation_p.I182M|RHOG_ENST00000396979.1_Missense_Mutation_p.I182M|RHOG_ENST00000396978.1_Missense_Mutation_p.I182M	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	182					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GCCCACGCTTGATCGGCGTGG	0.642																																																	0													41	35	37					11																	3848823		2201	4298	6499	SO:0001583	missense	391			X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"ras homolog gene family, member G (rho G)"	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.546C>G	11.37:g.3848823G>C	ENSP00000339467:p.Ile182Met		P35238|Q8NI04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I182M	ENST00000351018.4	37	c.546	CCDS7748.1	11	.	.	.	.	.	.	.	.	.	.	G	1.398	-0.578977	0.03854	.	.	ENSG00000177105	ENST00000351018;ENST00000396979;ENST00000396978;ENST00000533217	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.05	3.12	0.35913	.	0.744576	0.13210	N	0.405229	T	0.43875	0.1267	N	0.08118	0	0.29563	N	0.850513	B	0.23058	0.079	B	0.17722	0.019	T	0.39542	-0.9609	10	0.49607	T	0.09	.	7.7072	0.28657	0.0:0.1563:0.4986:0.3451	.	182	P84095	RHOG_HUMAN	M	182	ENSP00000339467:I182M;ENSP00000380176:I182M;ENSP00000380175:I182M;ENSP00000436932:I182M	ENSP00000339467:I182M	I	-	3	3	RHOG	3805399	0.999000	0.42202	0.971000	0.41717	0.010000	0.07245	2.383000	0.44354	0.647000	0.30713	0.655000	0.94253	ATC	RHOG	-	smart_Ran_GTPase		0.642	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOG	HGNC	protein_coding	OTTHUMT00000034125.2	G	NM_001665		3848823	-1	no_errors	ENST00000351018	ensembl	human	known	70_37	missense	SNP	0.923	C	C	3848823	G	C	3848823	3	2	160	1	0	0	0	0	1	0	0	0	13369	1280	45	1	33	1	RHOG	11	3848823	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	798179	3848823	131157693	1235	29508										
RRM1	6240	genome.wustl.edu	37	chr11	4159525	4159525	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaagataaagaaaaggtatCaaaagaggaagaagagaagg	12	1	1	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:4159525C>G	ENST00000300738.5	+	19	2495	c.2291C>G	c.(2290-2292)tCa>tGa	p.S764*	RRM1_ENST00000537197.1_Nonsense_Mutation_p.S426*|RRM1_ENST00000423050.2_Nonsense_Mutation_p.S667*|RRM1_ENST00000534285.1_Nonsense_Mutation_p.S542*|RRM1-AS1_ENST00000529323.1_RNA	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	764					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAAAAGGTATCAAAAGAGGAA	0.418																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												0													85	84	85					11																	4159525		2201	4298	6499	SO:0001587	stop_gained	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.2291C>G	11.37:g.4159525C>G	ENSP00000300738:p.Ser764*		Q9UNN2	Nonsense_Mutation	SNP	pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA	p.S764*	ENST00000300738.5	37	c.2291	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.188250	0.97362	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	.	.	.	5.55	1.4	0.22301	.	0.715195	0.13203	N	0.405788	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.0833	8.024	0.30425	0.0:0.6678:0.127:0.2052	.	.	.	.	X	764;667;677;542;542;426	.	ENSP00000300738:S764X	S	+	2	0	RRM1	4116101	0.002000	0.14202	0.352000	0.25734	0.246000	0.25737	0.632000	0.24583	0.411000	0.25702	0.655000	0.94253	TCA	RRM1	-	NULL		0.418	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	C	NM_001033		4159525	1	no_errors	ENST00000300738	ensembl	human	known	70_37	nonsense	SNP	0.103	G	G	4159525	C	G	4159525	4	3	160	1	0	0	0	0	0	1	0	0	13711	838	29	1	2365	1	RRM1	11	4159525	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	310702	4159525	130846991	1236	29509										
OR51S1	119692	genome.wustl.edu	37	chr11	4870037	4870037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtagtggagaggtcggcaGatggccagtgcccgatcaat	17	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:4870037G>C	ENST00000322101.2	-	1	477	c.402C>G	c.(400-402)atC>atG	p.I134M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGTCGGCAGATGGCCAGTG	0.532																																																	0													104	101	102					11																	4870037		2201	4298	6499	SO:0001583	missense	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.402C>G	11.37:g.4870037G>C	ENSP00000322754:p.Ile134Met		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I134M	ENST00000322101.2	37	c.402	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966696	0.53507	.	.	ENSG00000176922	ENST00000322101	D	0.81908	-1.55	4.98	0.831	0.18860	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000573	D	0.92034	0.7476	H	0.96662	3.86	0.33381	D	0.574826	D	0.89917	1.0	D	0.97110	1.0	D	0.90230	0.4278	10	0.87932	D	0	-20.4697	5.6509	0.17616	0.2311:0.0:0.6321:0.1369	.	134	Q8NGJ8	O51S1_HUMAN	M	134	ENSP00000322754:I134M	ENSP00000322754:I134M	I	-	3	3	OR51S1	4826613	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.569000	0.36428	0.297000	0.22615	-0.150000	0.13652	ATC	OR51S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	G	NM_001004758		4870037	-1	no_errors	ENST00000322101	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4870037	G	C	4870037	3	2	160	1	0	0	0	0	1	0	0	0	11129	932	33	1	572	1	OR51S1	11	4870037	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	710512	4870037	130136479	1237	29510										
MMP26	56547	genome.wustl.edu	37	chr11	5012686	5012686	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctggaaatcctggagttgtCcattttgacaagaatgaaca	9	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5012686C>G	ENST00000380390.1	+	5	771	c.555C>G	c.(553-555)gtC>gtG	p.V185V	MMP26_ENST00000300762.1_Silent_p.V185V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	185					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTGGAGTTGTCCATTTTGACA	0.483																																																	0													154	149	151					11																	5012686		2201	4298	6499	SO:0001819	synonymous_variant	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.555C>G	11.37:g.5012686C>G			Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.V185	ENST00000380390.1	37	c.555	CCDS7752.1	11																																																																																			MMP26	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	C	NM_021801		5012686	1	no_errors	ENST00000300762	ensembl	human	known	70_37	silent	SNP	0.209	G	G	5012686	C	G	5012686	2	3	160	1	0	0	0	0	0	0	0	1	9686	842	30	1		1	MMP26	11	5012686	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	142649	5012686	129993830	1238	29511										
UBQLN3	50613	genome.wustl.edu	37	chr11	5529891	5529891	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaggggttggggagagggtCacaattctccatccttgaag	14	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5529891C>G	ENST00000311659.4	-	2	1045	c.898G>C	c.(898-900)Gac>Cac	p.D300H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	300										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAGGGTCACAATTCTCC	0.542																																					Ovarian(72;684 1260 12332 41642 52180)												0													119	92	101					11																	5529891		2201	4297	6498	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.898G>C	11.37:g.5529891C>G	ENSP00000347997:p.Asp300His		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.D300H	ENST00000311659.4	37	c.898	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	c	14.78	2.638845	0.47153	.	.	ENSG00000175520	ENST00000311659	T	0.38401	1.14	5.52	5.52	0.82312	.	0.000000	0.48286	D	0.000196	T	0.39517	0.1081	L	0.57130	1.785	0.45076	D	0.998098	B	0.10296	0.003	B	0.12837	0.008	T	0.19614	-1.0300	10	0.62326	D	0.03	-9.7539	17.2783	0.87122	0.0:1.0:0.0:0.0	.	300	Q9H347	UBQL3_HUMAN	H	300	ENSP00000347997:D300H	ENSP00000347997:D300H	D	-	1	0	UBQLN3	5486467	0.997000	0.39634	1.000000	0.80357	0.939000	0.58152	1.291000	0.33330	2.744000	0.94065	0.586000	0.80456	GAC	UBQLN3	-	NULL		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	C	NM_017481		5529891	-1	no_errors	ENST00000311659	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5529891	C	G	5529891	3	3	160	1	0	0	0	0	1	0	0	0	16929	826	29	1	1073	1	UBQLN3	11	5529891	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	517205	5529891	129476625	1239	29512										
UBQLNL	143630	genome.wustl.edu	37	chr11	5537435	5537435	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcagtgtgtcatggtctttGagaaggcaacccatgaagac	11	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5537435G>C	ENST00000380184.1	-	1	500	c.237C>G	c.(235-237)ctC>ctG	p.L79L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	79	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CATGGTCTTTGAGAAGGCAAC	0.512																																																	0													199	157	171					11																	5537435		2201	4297	6498	SO:0001819	synonymous_variant	143630			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.237C>G	11.37:g.5537435G>C			Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L79	ENST00000380184.1	37	c.237	CCDS31385.1	11																																																																																			UBQLNL	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.512	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	G	NM_145053		5537435	-1	no_errors	ENST00000380184	ensembl	human	putative	70_37	silent	SNP	0.996	C	C	5537435	G	C	5537435	2	2	160	1	0	0	0	0	0	0	0	1	16931	1277	45	1		1	UBQLNL	11	5537435	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7544	5537435	129469081	1240	29513										
OR52N5	390075	genome.wustl.edu	37	chr11	5799825	5799825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaagatggaggagtcacatGaattgttggaaaccagcata	11	5	1	2	rs539484040		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:5799825G>A	ENST00000317093.2	-	1	72	c.40C>T	c.(40-42)Cat>Tat	p.H14Y	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGAGTCACATGAATTGTTGGA	0.358																																																	0													72	69	70					11																	5799825		2121	4075	6196	SO:0001583	missense	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.40C>T	11.37:g.5799825G>A	ENSP00000322866:p.His14Tyr		B9EH12|Q6IFG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.H14Y	ENST00000317093.2	37	c.40	CCDS31397.1	11	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023477	0.07634	.	.	ENSG00000181009	ENST00000317093	T	0.36340	1.26	3.59	3.59	0.41128	.	0.737275	0.10435	N	0.674988	T	0.31071	0.0785	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	10	0.45353	T	0.12	.	14.3236	0.66505	0.0:0.0:1.0:0.0	.	14	Q8NH56	O52N5_HUMAN	Y	14	ENSP00000322866:H14Y	ENSP00000322866:H14Y	H	-	1	0	OR52N5	5756401	0.278000	0.24230	0.076000	0.20297	0.232000	0.25224	4.027000	0.57239	2.010000	0.58986	0.404000	0.27445	CAT	OR52N5	-	NULL		0.358	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	G	NM_001001922		5799825	-1	no_errors	ENST00000317093	ensembl	human	known	70_37	missense	SNP	0.215	A	A	5799825	G	A	5799825	3	1	160	1	0	0	0	0	1	0	0	0	11154	1290	45	1	938	1	OR52N5	11	5799825	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	262390	5799825	129206691	1241	29514										
OR56A1	120796	genome.wustl.edu	37	chr11	6048725	6048725	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccagcagggagaggaggctGagcaggtagtacaggggctg	19	7	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6048725G>C	ENST00000316650.5	-	1	246	c.210C>G	c.(208-210)ctC>ctG	p.L70L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGAGGCTGAGCAGGTAGT	0.597																																																	0													76	73	74					11																	6048725		2201	4293	6494	SO:0001819	synonymous_variant	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.210C>G	11.37:g.6048725G>C			B2RNI2|Q6IFL0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L70	ENST00000316650.5	37	c.210	CCDS31405.1	11																																																																																			OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.597	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	G	NM_001001917		6048725	-1	no_errors	ENST00000316650	ensembl	human	known	70_37	silent	SNP	0.994	C	C	6048725	G	C	6048725	2	2	160	1	0	0	0	0	0	0	0	1	11157	1277	45	1		1	OR56A1	11	6048725	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	248900	6048725	128957791	1242	29515										
SMPD1	6609	genome.wustl.edu	37	chr11	6412652	6412652	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcgtgggctccgtggccatCaagctgtgcaatctgctgaa	13	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6412652C>G	ENST00000342245.4	+	2	525	c.357C>G	c.(355-357)atC>atG	p.I119M	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.I119M|SMPD1_ENST00000527275.1_Missense_Mutation_p.I118M|SMPD1_ENST00000356761.2_Missense_Mutation_p.I119M	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	117	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCGTGGCCATCAAGCTGTGCA	0.582																																																	0													76	61	66					11																	6412652		2201	4296	6497	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.357C>G	11.37:g.6412652C>G	ENSP00000340409:p.Ile119Met		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.I119M	ENST00000342245.4	37	c.357	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914587	0.33815	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	5.11	1.92	0.25849	Saposin-like (2);Saposin B (2);	0.612663	0.16730	N	0.201888	D	0.93249	0.7849	L	0.40543	1.245	0.09310	N	1	P;P;P	0.50710	0.694;0.938;0.736	B;P;B	0.53988	0.246;0.739;0.332	D	0.85573	0.1235	10	0.30078	T	0.28	-6.3732	5.4507	0.16563	0.0:0.5392:0.2741:0.1867	.	118;119;117	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	M	119;119;119;118	ENSP00000299397:I119M;ENSP00000349203:I119M;ENSP00000340409:I119M;ENSP00000435350:I118M	ENSP00000299397:I119M	I	+	3	3	SMPD1	6369228	0.000000	0.05858	0.974000	0.42286	0.833000	0.47200	-0.270000	0.08584	1.146000	0.42352	0.650000	0.86243	ATC	SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB		0.582	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6412652	1	no_errors	ENST00000342245	ensembl	human	known	70_37	missense	SNP	0.047	G	G	6412652	C	G	6412652	3	3	160	1	0	0	0	0	1	0	0	0	14834	816	29	1	363	1	SMPD1	11	6412652	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	363927	6412652	128593864	1243	29516										
ARFIP2	23647	genome.wustl.edu	37	chr11	6498963	6498963	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcaccttgttttcttccagGaacttgagcttgatggccac	10	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6498963G>A	ENST00000254584.2	-	7	938	c.855C>T	c.(853-855)ttC>ttT	p.F285F	ARFIP2_ENST00000445086.2_Silent_p.F200F|ARFIP2_ENST00000423813.2_Silent_p.F247F|ARFIP2_ENST00000396777.3_Silent_p.F285F	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	285	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCTTCCAGGAACTTGAGCT	0.552																																					Melanoma(119;796 1674 9049 20480 24794)												0													79	74	75					11																	6498963		2201	4296	6497	SO:0001819	synonymous_variant	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.855C>T	11.37:g.6498963G>A			B4DX86|B4E306|D3DQT5	Silent	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.F285	ENST00000254584.2	37	c.855	CCDS7765.1	11																																																																																			ARFIP2	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.552	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	G	NM_012402		6498963	-1	no_errors	ENST00000254584	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6498963	G	A	6498963	2	1	160	1	0	0	0	0	0	0	0	1	855	1165	41	1		1	ARFIP2	11	6498963	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	86311	6498963	128507553	1244	29517										
DNHD1	144132	genome.wustl.edu	37	chr11	6580204	6580204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catggctcttatccacctttCggccacccactaccatgagc	6	17	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6580204C>T	ENST00000527990.2	+	25	9284	c.9284C>T	c.(9283-9285)tCg>tTg	p.S3095L	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3095L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3095					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCCACCTTTCGGCCACCCAC	0.567																																																	0													124	117	119					11																	6580204		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.9284C>T	11.37:g.6580204C>T	ENSP00000436180:p.Ser3095Leu		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.S3095L	ENST00000527990.2	37	c.9284	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359394	0.24598	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000524401;ENST00000526486;ENST00000526027	T;T	0.36157	1.27;1.27	6.03	5.12	0.69794	.	.	.	.	.	T	0.25865	0.0630	N	0.14661	0.345	0.32573	N	0.529539	D;P	0.55605	0.972;0.696	B;B	0.42087	0.375;0.075	T	0.35943	-0.9768	9	0.72032	D	0.01	.	14.277	0.66187	0.0:0.9279:0.0:0.0721	.	7;3095	E9PNB2;Q96M86	.;DNHD1_HUMAN	L	3095;3095;160;7;7	ENSP00000254579:S3095L;ENSP00000436180:S3095L	ENSP00000254579:S3095L	S	+	2	0	DNHD1	6536780	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	2.668000	0.46816	1.563000	0.49615	-0.140000	0.14226	TCG	DNHD1	-	NULL		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6580204	1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6580204	C	T	6580204	3	4	160	1	0	0	0	0	1	0	0	0	4678	893	31	1	9391	1	DNHD1	11	6580204	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	81241	6580204	128426312	1245	29518										
DCHS1	8642	genome.wustl.edu	37	chr11	6643167	6643167	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgggggacatggcagctGaggacagggagccttcatgg	18	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6643167G>A	ENST00000299441.3	-	21	10151	c.9740C>T	c.(9739-9741)tCa>tTa	p.S3247L	TPP1_ENST00000528657.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000299427.6_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3247					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3247L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCAGCTGAGGACAGGGA	0.632																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											61	56	58					11																	6643167		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9740C>T	11.37:g.6643167G>A	ENSP00000299441:p.Ser3247Leu		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S3247L	ENST00000299441.3	37	c.9740	CCDS7771.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.077860|4.077860	0.76528|0.76528	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|T	.|0.59772	.|0.24	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.35805	.|N	.|0.002976	.|T	.|0.75759	.|0.3893	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.63488	.|0.915	.|T	.|0.78831	.|-0.2049	.|10	0.87932|0.59425	D|D	0|0.04	.|.	17.0523|17.0523	0.86523|0.86523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3247	.|Q96JQ0	.|PCD16_HUMAN	X|L	7|3247	.|ENSP00000299441:S3247L	ENSP00000390601:Q7X|ENSP00000299441:S3247L	Q|S	-|-	1|2	0|0	DCHS1|DCHS1	6599743|6599743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.559000|9.559000	0.98135|0.98135	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	CAG|TCA	DCHS1	-	NULL		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6643167	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6643167	G	A	6643167	3	1	160	1	0	0	0	0	1	0	0	0	4292	1294	45	1	160	1	DCHS1	11	6643167	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	62963	6643167	128363349	1246	29519										
ZNF215	7762	genome.wustl.edu	37	chr11	6953894	6953894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagatgtgattgaaatgcttGaagatgaaggtaagaatata	11	1	0	7			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:6953894G>C	ENST00000278319.5	+	3	979	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	ZNF215_ENST00000414517.2_Missense_Mutation_p.E131Q|ZNF215_ENST00000529903.1_Missense_Mutation_p.E131Q|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	131					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGAAATGCTTGAAGATGAAGG	0.368																																																	0													44	47	46					11																	6953894		2199	4296	6495	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.391G>C	11.37:g.6953894G>C	ENSP00000278319:p.Glu131Gln		Q96C84	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E131Q	ENST00000278319.5	37	c.391	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721663	0.30503	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.04454	3.62;3.62;3.62	4.14	-4.26	0.03755	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.744776	0.11512	N	0.556560	T	0.04182	0.0116	L	0.48218	1.51	0.09310	N	1	B;P;B	0.37914	0.192;0.611;0.192	B;B;B	0.35114	0.142;0.196;0.091	T	0.20773	-1.0265	10	0.56958	D	0.05	-4.1001	6.5196	0.22266	0.3497:0.1629:0.4874:0.0	.	131;131;131	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	Q	131	ENSP00000278319:E131Q;ENSP00000393202:E131Q;ENSP00000432306:E131Q	ENSP00000278319:E131Q	E	+	1	0	ZNF215	6910470	0.001000	0.12720	0.005000	0.12908	0.326000	0.28443	0.130000	0.15850	-0.810000	0.04375	-0.290000	0.09829	GAA	ZNF215	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN		0.368	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1	G			6953894	1	no_errors	ENST00000278319	ensembl	human	known	70_37	missense	SNP	0.009	C	C	6953894	G	C	6953894	3	2	160	1	0	0	0	0	1	0	0	0	17801	1291	45	1	393	1	ZNF215	11	6953894	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	310727	6953894	128052622	1247	29520										
ZNF214	7761	genome.wustl.edu	37	chr11	7022556	7022556	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgctttcaaaagtcagttCatagttcccataccctggta	6	10	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:7022556C>G	ENST00000278314.4	-	3	673	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.E120Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAGTCAGTTCATAGTTCCCA	0.398																																					Ovarian(22;251 657 736 21522 46864)												0													210	218	215					11																	7022556		2201	4295	6496	SO:0001583	missense	7761			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.358G>C	11.37:g.7022556C>G	ENSP00000278314:p.Glu120Gln		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E120Q	ENST00000278314.4	37	c.358	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.714957	0.00706	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.05925	3.37;3.37	4.14	2.26	0.28386	.	0.533330	0.15748	N	0.246582	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.47598	-0.9105	10	0.13108	T	0.6	.	4.4854	0.11787	0.0:0.6096:0.1846:0.2058	.	120	Q9UL59	ZN214_HUMAN	Q	120	ENSP00000278314:E120Q;ENSP00000445373:E120Q	ENSP00000278314:E120Q	E	-	1	0	ZNF214	6979132	.	.	0.423000	0.26634	0.031000	0.12232	.	.	0.517000	0.28361	-0.140000	0.14226	GAA	ZNF214	-	NULL		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	C			7022556	-1	no_errors	ENST00000278314	ensembl	human	known	70_37	missense	SNP	0.013	G	G	7022556	C	G	7022556	3	3	160	1	0	0	0	0	1	0	0	0	17800	835	29	1	1466	1	ZNF214	11	7022556	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	68662	7022556	127983960	1248	29521										
SBF2	81846	genome.wustl.edu	37	chr11	9851041	9851041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agattctaaagaggaggtagGagctataaaaggaaaatata	11	2	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:9851041G>C	ENST00000256190.8	-	28	3792	c.3655C>G	c.(3655-3657)Cct>Gct	p.P1219A		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1219	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAGGAGGTAGGAGCTATAAAA	0.338																																																	0													80	83	82					11																	9851041		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3655C>G	11.37:g.9851041G>C	ENSP00000256190:p.Pro1219Ala		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.P1219A	ENST00000256190.8	37	c.3655	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395652	0.42512	.	.	ENSG00000133812	ENST00000256190	D	0.85484	-1.99	5.56	3.62	0.41486	Myotubularin phosphatase domain (1);	0.198825	0.53938	N	0.000044	T	0.75072	0.3800	L	0.41573	1.285	0.54753	D	0.999984	B	0.06786	0.001	B	0.08055	0.003	T	0.62987	-0.6737	10	0.07325	T	0.83	.	10.3221	0.43773	0.0745:0.1363:0.7892:0.0	.	1219	Q86WG5	MTMRD_HUMAN	A	1219	ENSP00000256190:P1219A	ENSP00000256190:P1219A	P	-	1	0	SBF2	9807617	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.483000	0.73617	0.655000	0.30866	0.655000	0.94253	CCT	SBF2	-	NULL		0.338	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		9851041	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9851041	G	C	9851041	3	2	160	1	0	0	0	0	1	0	0	0	13889	1174	41	1	1946	1	SBF2	11	9851041	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2828485	9851041	125155475	1249	29522										
SBF2	81846	genome.wustl.edu	37	chr11	9879898	9879898	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttgtccaaatggggtggtCttgtacacacgtgtaagcaa	11	7	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:9879898C>T	ENST00000256190.8	-	18	2112	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	659					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGGGGTGGTCTTGTACACAC	0.453																																																	0													146	130	136					11																	9879898		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1975G>A	11.37:g.9879898C>T	ENSP00000256190:p.Asp659Asn		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.D659N	ENST00000256190.8	37	c.1975	CCDS31427.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.658482|5.658482	0.96734|0.96734	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	T|.	0.55930|.	0.49|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.050161|.	0.85682|.	D|.	0.000000|.	T|T	0.76579|0.76579	0.4007|0.4007	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	P|.	0.45768|.	0.866|.	P|.	0.54431|.	0.752|.	T|T	0.75210|0.75210	-0.3398|-0.3398	10|5	0.72032|.	D|.	0.01|.	.|.	19.5553|19.5553	0.95345|0.95345	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	659|.	Q86WG5|.	MTMRD_HUMAN|.	N|K	659|265	ENSP00000256190:D659N|.	ENSP00000256190:D659N|.	D|R	-|-	1|2	0|0	SBF2|SBF2	9836474|9836474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.773000|7.773000	0.85462|0.85462	2.618000|2.618000	0.88619|0.88619	0.552000|0.552000	0.68991|0.68991	GAC|AGA	SBF2	-	pfam_SBF2		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	C	NM_030962		9879898	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9879898	C	T	9879898	3	4	160	1	0	0	0	0	1	0	0	0	13889	913	32	1	3666	1	SBF2	11	9879898	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	28857	9879898	125126618	1250	29523										
MRVI1	10335	genome.wustl.edu	37	chr11	10628291	10628291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacacttgagtcacttacctCaacttccttttcagtgagtg	6	12	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:10628291C>G	ENST00000436272.1	-	11	1597	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	MRVI1_ENST00000547195.1_Missense_Mutation_p.E443Q|MRVI1_ENST00000545852.1_Missense_Mutation_p.E219Q|MRVI1_ENST00000541483.1_Missense_Mutation_p.E328Q|MRVI1_ENST00000421747.1_Missense_Mutation_p.E525Q|MRVI1_ENST00000527509.2_Missense_Mutation_p.E443Q|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.E534Q|MRVI1_ENST00000558540.1_Missense_Mutation_p.E219Q|MRVI1_ENST00000424001.1_Missense_Mutation_p.E219Q|MRVI1_ENST00000552103.1_Missense_Mutation_p.E443Q|MRVI1_ENST00000534266.2_Missense_Mutation_p.E219Q|MRVI1_ENST00000531107.1_Missense_Mutation_p.E526Q			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	507					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCACTTACCTCAACTTCCTTT	0.418																																																	0													76	77	76					11																	10628291		1938	4118	6056	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1519G>C	11.37:g.10628291C>G	ENSP00000412229:p.Glu507Gln		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.E525Q	ENST00000436272.1	37	c.1573		11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980929	0.92982	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.58929	-0.7549	10	0.72032	D	0.01	-19.3482	19.3191	0.94231	0.0:1.0:0.0:0.0	.	328;507;526;525	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	Q	525;508;507;443;443;219;219;534;328;526;443	ENSP00000414598:E525Q;ENSP00000412229:E507Q;ENSP00000448278:E443Q;ENSP00000446764:E443Q;ENSP00000441971:E219Q;ENSP00000401205:E219Q;ENSP00000412130:E534Q;ENSP00000437784:E328Q;ENSP00000432436:E526Q;ENSP00000432067:E443Q	ENSP00000307885:E508Q	E	-	1	0	MRVI1	10584867	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.000000	0.76290	2.558000	0.86282	0.655000	0.94253	GAG	MRVI1	-	pfam_MRVI1		0.418	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		C	NM_001098579		10628291	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10628291	C	G	10628291	3	3	160	1	0	0	0	0	1	0	0	0	9876	835	29	1	1178	1	MRVI1	11	10628291	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	748393	10628291	124378225	1251	29524										
CALCB	797	genome.wustl.edu	37	chr11	15098849	15098849	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctccgctgcccagaagaGagcctgcaacactgccacct	9	17	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:15098849G>C	ENST00000533448.1	+	4	353	c.242G>C	c.(241-243)aGa>aCa	p.R81T	CALCB_ENST00000324229.6_Missense_Mutation_p.R81T|CALCB_ENST00000523376.1_Missense_Mutation_p.R92T			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	81					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GCCCAGAAGAGAGCCTGCAAC	0.542																																																	0													54	53	53					11																	15098849		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.242G>C	11.37:g.15098849G>C	ENSP00000433490:p.Arg81Thr		A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.R81T	ENST00000533448.1	37	c.242	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667123	0.88251	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.26373	1.74;1.74;1.74	4.87	4.87	0.63330	Calcitonin peptide-like (1);	0.116233	0.39834	N	0.001258	T	0.61464	0.2349	M	0.91140	3.18	0.41493	D	0.988238	D	0.89917	1.0	D	0.87578	0.998	T	0.72821	-0.4177	10	0.87932	D	0	-8.4969	18.3705	0.90405	0.0:0.0:1.0:0.0	.	81	P10092	CALCB_HUMAN	T	92;81;81	ENSP00000428882:R92T;ENSP00000346017:R81T;ENSP00000433490:R81T	ENSP00000346017:R81T	R	+	2	0	CALCB	15055425	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.406000	0.97321	2.390000	0.81377	0.462000	0.41574	AGA	CALCB	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep		0.542	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	G	NM_000728		15098849	1	no_errors	ENST00000324229	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15098849	G	C	15098849	3	2	160	1	0	0	0	0	1	0	0	0	2581	942	33	1	252	1	CALCB	11	15098849	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4470558	15098849	119907667	1252	29525										
RPS13	6207	genome.wustl.edu	37	chr11	17097005	17097005	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttatttattagcttacctttCtgttcctctcaagatgcttt	4	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:17097005C>G	ENST00000525634.1	-	4	462	c.317G>C	c.(316-318)aGa>aCa	p.R106T	RPS13_ENST00000228140.2_Missense_Mutation_p.R106T|PIK3C2A_ENST00000531428.1_5'Flank|RPS13_ENST00000526895.1_5'UTR|AC116533.1_ENST00000408395.1_RNA|SNORD14A_ENST00000606526.1_RNA|SNORD14B_ENST00000364533.1_RNA			P62277	RS13_HUMAN	ribosomal protein S13	106					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCTTACCTTTCTGTTCCTCTC	0.363																																																	0													77	73	74					11																	17097005		2200	4293	6493	SO:0001583	missense	6207			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"S ribosomal proteins"	10386	protein-coding gene	gene with protein product	"40S ribosomal protein S13"	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.317G>C	11.37:g.17097005C>G	ENSP00000435777:p.Arg106Thr		B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.R106T	ENST00000525634.1	37	c.317	CCDS7823.1	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906653	0.92107	.	.	ENSG00000110700	ENST00000228140;ENST00000525634	.	.	.	5.76	5.76	0.90799	S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.81614	2.55	0.80722	D	1	P	0.45569	0.861	P	0.48598	0.583	T	0.76602	-0.2899	9	0.56958	D	0.05	-4.4083	19.5547	0.95338	0.0:1.0:0.0:0.0	.	106	P62277	RS13_HUMAN	T	106	.	ENSP00000228140:R106T	R	-	2	0	RPS13	17053581	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.794000	0.85869	2.726000	0.93360	0.655000	0.94253	AGA	RPS13	-	pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd		0.363	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS13	HGNC	protein_coding	OTTHUMT00000387320.2	C	NM_001017		17097005	-1	no_errors	ENST00000525634	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17097005	C	G	17097005	3	3	160	1	0	0	0	0	1	0	0	0	13653	913	32	1	150	1	RPS13	11	17097005	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1998156	17097005	117909511	1253	29526										
USH1C	10083	genome.wustl.edu	37	chr11	17522622	17522622	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgctcagcagctccccgctCatacacagcagaaacgacca	7	18	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:17522622C>G	ENST00000318024.4	-	18	1564	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	USH1C_ENST00000527020.1_Missense_Mutation_p.E467Q|USH1C_ENST00000005226.7_Missense_Mutation_p.E786Q|USH1C_ENST00000527720.1_Missense_Mutation_p.E455Q|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	486	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCTCCCCGCTCATACACAGCA	0.587																																																	0													76	61	66					11																	17522622		2200	4293	6493	SO:0001583	missense	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1456G>C	11.37:g.17522622C>G	ENSP00000317018:p.Glu486Gln		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E786Q	ENST00000318024.4	37	c.2356	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944178	0.73672	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.142637	0.48286	D	0.000197	T	0.47967	0.1474	L	0.60455	1.87	0.42217	D	0.991838	P;P;B	0.43938	0.725;0.822;0.407	P;P;P	0.53912	0.465;0.737;0.455	T	0.43589	-0.9382	10	0.66056	D	0.02	.	17.8381	0.88706	0.0:1.0:0.0:0.0	.	467;486;786	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	486;455;467;786	ENSP00000317018:E486Q;ENSP00000432944:E455Q;ENSP00000436934:E467Q;ENSP00000005226:E786Q	ENSP00000005226:E786Q	E	-	1	0	USH1C	17479198	1.000000	0.71417	0.962000	0.40283	0.841000	0.47740	6.301000	0.72782	2.741000	0.93983	0.650000	0.86243	GAG	USH1C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	C	NM_005709		17522622	-1	no_errors	ENST00000005226	ensembl	human	known	70_37	missense	SNP	0.999	G	G	17522622	C	G	17522622	3	3	160	1	0	0	0	0	1	0	0	0	17065	835	29	1	363	1	USH1C	11	17522622	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	425617	17522622	117483894	1254	29527										
USH1C	10083	genome.wustl.edu	37	chr11	17522649	17522649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcagaaacgaccaccttccCaatgggggagtccacaccgc	10	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:17522649C>A	ENST00000318024.4	-	18	1537	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	USH1C_ENST00000527020.1_Missense_Mutation_p.G458W|USH1C_ENST00000005226.7_Missense_Mutation_p.G777W|USH1C_ENST00000527720.1_Missense_Mutation_p.G446W|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	477	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACCACCTTCCCAATGGGGGAG	0.582																																																	0													75	62	66					11																	17522649		2200	4293	6493	SO:0001583	missense	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1429G>T	11.37:g.17522649C>A	ENSP00000317018:p.Gly477Trp		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G777W	ENST00000318024.4	37	c.2329	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656078	0.88056	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.84082	2.675	0.50171	D	0.99985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65191	-0.6228	10	0.72032	D	0.01	.	17.8381	0.88706	0.0:1.0:0.0:0.0	.	458;477;777	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	W	477;446;458;777	ENSP00000317018:G477W;ENSP00000432944:G446W;ENSP00000436934:G458W;ENSP00000005226:G777W	ENSP00000005226:G777W	G	-	1	0	USH1C	17479225	1.000000	0.71417	0.964000	0.40570	0.986000	0.74619	6.301000	0.72782	2.741000	0.93983	0.650000	0.86243	GGG	USH1C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.582	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	C	NM_005709		17522649	-1	no_errors	ENST00000005226	ensembl	human	known	70_37	missense	SNP	0.999	A	A	17522649	C	A	17522649	3	1	160	1	0	0	0	0	1	0	0	0	17065	594	21	4	390	4	USH1C	11	17522649	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	27	17522649	117483867	1255	29528										
HPS5	11234	genome.wustl.edu	37	chr11	18313229	18313229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caattcagccaggtcgttccGaagaccacttgcaatggcgc	10	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18313229G>A	ENST00000349215.3	-	16	2477	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	HPS5_ENST00000396253.3_Missense_Mutation_p.R620W|HPS5_ENST00000438420.2_Missense_Mutation_p.R620W|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	734					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTCGTTCCGAAGACCACTT	0.418									Hermansky-Pudlak syndrome																																								0													169	156	160					11																	18313229		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2200C>T	11.37:g.18313229G>A	ENSP00000265967:p.Arg734Trp		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R734W	ENST00000349215.3	37	c.2200	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822505	0.50739	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.77229	-1.08;-1.08;-1.08	5.56	4.63	0.57726	.	0.700616	0.14866	N	0.293834	T	0.68787	0.3039	N	0.14661	0.345	0.80722	D	1	D	0.58970	0.984	P	0.45138	0.471	T	0.73360	-0.4007	10	0.72032	D	0.01	.	16.3745	0.83381	0.0:0.1321:0.8679:0.0	.	734	Q9UPZ3	HPS5_HUMAN	W	620;620;734	ENSP00000379552:R620W;ENSP00000399590:R620W;ENSP00000265967:R734W	ENSP00000265967:R734W	R	-	1	2	HPS5	18269805	1.000000	0.71417	0.976000	0.42696	0.177000	0.22998	4.037000	0.57311	1.319000	0.45190	0.655000	0.94253	CGG	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.418	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	G	NM_181507		18313229	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	0.874	A	A	18313229	G	A	18313229	3	1	160	1	0	0	0	0	1	0	0	0	7362	1057	37	1	1221	1	HPS5	11	18313229	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	790580	18313229	116693287	1256	29529										
GTF2H1	2965	genome.wustl.edu	37	chr11	18359719	18359719	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttgttgtgagtcaagtgatCagtgctgaggaattctgggc	14	6	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18359719C>T	ENST00000265963.4	+	4	571	c.411C>T	c.(409-411)atC>atT	p.I137I	GTF2H1_ENST00000453096.2_Silent_p.I137I|GTF2H1_ENST00000534641.1_Silent_p.I21I|GTF2H1_ENST00000524753.4_5'Flank	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	137	BSD 1. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTCAAGTGATCAGTGCTGAGG	0.383								Nucleotide excision repair (NER)																																									0													216	193	201					11																	18359719		2199	4293	6492	SO:0001819	synonymous_variant	2965				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.411C>T	11.37:g.18359719C>T			B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.I137	ENST00000265963.4	37	c.411	CCDS7838.1	11																																																																																			GTF2H1	-	pfam_BSD,smart_BSD,pfscan_BSD		0.383	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2	C	NM_005316		18359719	1	no_errors	ENST00000265963	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18359719	C	T	18359719	2	4	160	1	0	0	0	0	0	0	0	1	6880	816	29	1		1	GTF2H1	11	18359719	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	46490	18359719	116646797	1257	29530										
IGSF22	283284	genome.wustl.edu	37	chr11	18731108	18731108	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaccactcctttgtgtcttCagccctcatctcaaggatgt	8	13	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18731108C>T	ENST00000513874.1	-	18	2963	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	841										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTGTGTCTTCAGCCCTCATC	0.547																																																	0													78	83	81					11																	18731108		1967	4144	6111	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2824G>A	11.37:g.18731108C>T	ENSP00000421191:p.Glu942Lys		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E942K	ENST00000513874.1	37	c.2824	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775643	0.31411	.	.	ENSG00000179057	ENST00000513874	T	0.56444	0.46	4.58	3.65	0.41850	.	.	.	.	.	T	0.36026	0.0952	N	0.01751	-0.74	0.21719	N	0.999575	P	0.48350	0.909	P	0.57548	0.823	T	0.25537	-1.0129	9	0.02654	T	1	.	11.9496	0.52948	0.1738:0.8262:0.0:0.0	.	942	D6RGV7	.	K	942	ENSP00000421191:E942K	ENSP00000322422:E841K	E	-	1	0	IGSF22	18687684	0.095000	0.21747	0.973000	0.42090	0.956000	0.61745	2.072000	0.41510	1.120000	0.41904	0.655000	0.94253	GAA	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	C	NM_173588		18731108	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.991	T	T	18731108	C	T	18731108	3	4	160	1	0	0	0	0	1	0	0	0	7620	835	29	1	1180	1	IGSF22	11	18731108	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	371389	18731108	116275408	1258	29531										
IGSF22	283284	genome.wustl.edu	37	chr11	18733886	18733886	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatgtgcacacaactacctGagagctccaggaactccacc	7	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:18733886G>A	ENST00000513874.1	-	15	2280	c.2141C>T	c.(2140-2142)tCa>tTa	p.S714L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	713	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACAACTACCTGAGAGCTCCAG	0.557																																																	0													70	64	66					11																	18733886		692	1591	2283	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2141C>T	11.37:g.18733886G>A	ENSP00000421191:p.Ser714Leu		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S714L	ENST00000513874.1	37	c.2141	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	g	13.85	2.361431	0.41801	.	.	ENSG00000179057	ENST00000513874	T	0.47177	0.85	4.11	0.486	0.16836	.	.	.	.	.	T	0.36580	0.0972	L	0.61218	1.895	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.34254	-0.9836	9	0.12103	T	0.63	.	3.4516	0.07501	0.2626:0.0:0.5497:0.1877	.	714	D6RGV7	.	L	714	ENSP00000421191:S714L	ENSP00000421191:S714L	S	-	2	0	IGSF22	18690462	0.002000	0.14202	0.020000	0.16555	0.991000	0.79684	1.168000	0.31859	-0.072000	0.12864	0.550000	0.68814	TCA	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	G	NM_173588		18733886	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.018	A	A	18733886	G	A	18733886	3	1	160	1	0	0	0	0	1	0	0	0	7620	1294	45	1	1875	1	IGSF22	11	18733886	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2778	18733886	116272630	1259	29532										
NAV2	89797	genome.wustl.edu	37	chr11	20101720	20101720	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcgtgggcagcaacataGagagtgactcaaagaagaag	13	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:20101720G>C	ENST00000396087.3	+	27	5557	c.5458G>C	c.(5458-5460)Gag>Cag	p.E1820Q	NAV2_ENST00000360655.4_Missense_Mutation_p.E1700Q|NAV2_ENST00000533917.1_Missense_Mutation_p.E828Q|NAV2_ENST00000540292.1_Missense_Mutation_p.E1751Q|NAV2_ENST00000311043.8_Missense_Mutation_p.E828Q|NAV2_ENST00000396085.1_Missense_Mutation_p.E1764Q|NAV2_ENST00000527559.2_Missense_Mutation_p.E1749Q|NAV2_ENST00000349880.4_Missense_Mutation_p.E1764Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1820					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCAACATAGAGAGTGACTC	0.577																																																	0													70	65	66					11																	20101720		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5458G>C	11.37:g.20101720G>C	ENSP00000379396:p.Glu1820Gln		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1820Q	ENST00000396087.3	37	c.5458	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.334118	0.95758	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.39	5.39	0.77823	.	0.181277	0.38605	N	0.001635	D	0.93556	0.7943	L	0.32530	0.975	0.58432	D	0.999999	P;D;P;P;P;P	0.54772	0.928;0.968;0.867;0.893;0.913;0.787	P;B;B;P;P;B	0.57620	0.672;0.345;0.288;0.543;0.824;0.438	D	0.92487	0.5997	9	.	.	.	.	19.17	0.93574	0.0:0.0:1.0:0.0	.	1764;1820;828;813;1764;1700	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	Q	1700;1764;1764;1820;1749;1751;828;813;828;813	ENSP00000353871:E1700Q;ENSP00000379394:E1764Q;ENSP00000309577:E1764Q;ENSP00000379396:E1820Q;ENSP00000435395:E1749Q;ENSP00000443489:E1751Q;ENSP00000437316:E828Q;ENSP00000437136:E813Q;ENSP00000312169:E828Q	.	E	+	1	0	NAV2	20058296	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.869000	0.99810	2.521000	0.84997	0.557000	0.71058	GAG	NAV2	-	NULL		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	G	NM_145117		20101720	1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20101720	G	C	20101720	3	2	160	1	0	0	0	0	1	0	0	0	10207	943	33	1	5497	1	NAV2	11	20101720	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1367834	20101720	114904796	1260	29533										
SLC6A5	9152	genome.wustl.edu	37	chr11	20623184	20623184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaatcacgtccgtgctcccGggcagcgtggccaccgttgc	14	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:20623184G>A	ENST00000525748.1	+	2	786	c.513G>A	c.(511-513)ccG>ccA	p.P171P		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	171					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCGTGCTCCCGGGCAGCGTGG	0.662																																																	0													71	63	66					11																	20623184		2203	4300	6503	SO:0001819	synonymous_variant	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.513G>A	11.37:g.20623184G>A			O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.P171	ENST00000525748.1	37	c.513	CCDS7854.1	11																																																																																			SLC6A5	-	NULL		0.662	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	G	NM_004211		20623184	1	no_errors	ENST00000525748	ensembl	human	known	70_37	silent	SNP	0.996	A	A	20623184	G	A	20623184	2	1	160	1	0	0	0	0	0	0	0	1	14717	1103	39	2		2	SLC6A5	11	20623184	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	521464	20623184	114383332	1261	29534										
SLC6A5	9152	genome.wustl.edu	37	chr11	20676353	20676353	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaacatgatcgaccccttggGaacctcttccttgggactca	9	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:20676353G>C	ENST00000525748.1	+	16	2606	c.2333G>C	c.(2332-2334)gGa>gCa	p.G778A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	778					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G778E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GACCCCTTGGGAACCTCTTCC	0.547																																																	1	Substitution - Missense(1)	skin(1)											181	166	171					11																	20676353		2203	4300	6503	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2333G>C	11.37:g.20676353G>C	ENSP00000434364:p.Gly778Ala		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.G778A	ENST00000525748.1	37	c.2333	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961716	0.74016	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	N	0.19112	0.55	0.80722	D	1	B	0.27882	0.192	B	0.22753	0.041	T	0.56926	-0.7898	10	0.20519	T	0.43	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	778	Q9Y345	SC6A5_HUMAN	A	778	ENSP00000434364:G778A	ENSP00000434364:G778A	G	+	2	0	SLC6A5	20632929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.873000	0.98535	0.563000	0.77884	GGA	SLC6A5	-	NULL		0.547	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	G	NM_004211		20676353	1	no_errors	ENST00000525748	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20676353	G	C	20676353	3	2	160	1	0	0	0	0	1	0	0	0	14717	1174	41	1	2395	1	SLC6A5	11	20676353	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	53169	20676353	114330163	1262	29535										
SLC5A12	159963	genome.wustl.edu	37	chr11	26705375	26705375	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtcctccacacatgccgtGaatgctgagggaagcctgtg	13	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:26705375G>T	ENST00000396005.3	-	11	1546	c.1237C>A	c.(1237-1239)Cac>Aac	p.H413N		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	413					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CACATGCCGTGAATGCTGAGG	0.512																																																	0													50	50	50					11																	26705375		1971	4174	6145	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1237C>A	11.37:g.26705375G>T	ENSP00000379326:p.His413Asn		Q86UC7	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.S226*	ENST00000396005.3	37	c.677	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	G	39	7.435965	0.98282	.	.	ENSG00000148942	ENST00000396005	D	0.87571	-2.27	5.59	5.59	0.84812	.	0.368196	0.23077	U	0.052199	T	0.81394	0.4813	N	0.20685	0.6	0.80722	D	1	B	0.14438	0.01	B	0.23018	0.043	T	0.75496	-0.3297	10	0.45353	T	0.12	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	413	Q1EHB4	SC5AC_HUMAN	N	413	ENSP00000379326:H413N	ENSP00000379326:H413N	H	-	1	0	SLC5A12	26661951	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.683000	0.84093	2.620000	0.88729	0.655000	0.94253	CAC	SLC5A12	-	NULL		0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	G	NM_178498		26705375	-1	no_errors	ENST00000527405	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	26705375	G	T	26705375	3	4	160	1	0	0	0	0	1	0	0	0	14694	1290	45	3	639	3	SLC5A12	11	26705375	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6029022	26705375	108301141	1263	29536										
KIF18A	81930	genome.wustl.edu	37	chr11	28104435	28104435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttcctgagggtttgaaatCattaactttgcttggtcatt	8	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:28104435C>T	ENST00000263181.6	-	9	1520	c.1230G>A	c.(1228-1230)atG>atA	p.M410I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGTTTGAAATCATTAACTTTG	0.264																																																	0													87	88	87					11																	28104435		2198	4293	6491	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1230G>A	11.37:g.28104435C>T	ENSP00000263181:p.Met410Ile		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M410I	ENST00000263181.6	37	c.1230	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132315	0.08981	.	.	ENSG00000121621	ENST00000263181	T	0.71341	-0.56	5.43	2.45	0.29901	.	0.679936	0.14961	N	0.288350	T	0.45776	0.1359	N	0.14661	0.345	0.09310	N	1	B	0.23442	0.085	B	0.14023	0.01	T	0.24012	-1.0172	10	0.37606	T	0.19	.	2.0931	0.03661	0.1497:0.4828:0.1461:0.2214	.	410	Q8NI77	KI18A_HUMAN	I	410	ENSP00000263181:M410I	ENSP00000263181:M410I	M	-	3	0	KIF18A	28061011	0.000000	0.05858	0.686000	0.30086	0.480000	0.33159	-0.294000	0.08309	0.732000	0.32470	0.650000	0.86243	ATG	KIF18A	-	NULL		0.264	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28104435	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	missense	SNP	0.023	T	T	28104435	C	T	28104435	3	4	160	1	0	0	0	0	1	0	0	0	8300	826	29	1	1502	1	KIF18A	11	28104435	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1399060	28104435	106902081	1264	29537										
IMMP1L	196294	genome.wustl.edu	37	chr11	31482222	31482222	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attttctgcaaagacaatatCtgaattttgaattgtaggct	7	5	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:31482222C>T	ENST00000278200.1	-	4	340	c.145G>A	c.(145-147)Gat>Aat	p.D49N	IMMP1L_ENST00000532287.1_Missense_Mutation_p.D49N|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000534812.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	49					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AAGACAATATCTGAATTTTGA	0.289																																																	0													75	78	77					11																	31482222		2202	4294	6496	SO:0001583	missense	196294				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.145G>A	11.37:g.31482222C>T	ENSP00000278200:p.Asp49Asn		D3DQZ7|Q96SH9	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.D49N	ENST00000278200.1	37	c.145	CCDS7874.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020634	0.75275	.	.	ENSG00000148950	ENST00000532287;ENST00000278200;ENST00000529749;ENST00000530023	.	.	.	5.58	5.58	0.84498	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.70842	2.15	0.80722	D	1	P;P	0.50617	0.933;0.937	P;P	0.57371	0.741;0.819	T	0.75578	-0.3269	9	0.48119	T	0.1	-17.9944	19.922	0.97089	0.0:1.0:0.0:0.0	.	49;49	E9PIG6;Q96LU5	.;IMP1L_HUMAN	N	49	.	ENSP00000278200:D49N	D	-	1	0	IMMP1L	31438798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.130000	0.64745	2.780000	0.95670	0.655000	0.94253	GAT	IMMP1L	-	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1		0.289	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1	C	NM_144981		31482222	-1	no_errors	ENST00000278200	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31482222	C	T	31482222	3	4	160	1	0	0	0	0	1	0	0	0	7736	913	32	1	371	1	IMMP1L	11	31482222	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3377787	31482222	103524294	1265	29538										
QSER1	79832	genome.wustl.edu	37	chr11	32975573	32975573	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcaaagcccattgaacttGatggtcttccttcagaccag	7	13	3	3	rs563561881		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:32975573G>C	ENST00000399302.2	+	5	4296	c.3961G>C	c.(3961-3963)Gat>Cat	p.D1321H	QSER1_ENST00000527788.1_Missense_Mutation_p.D1082H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1321										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTGAACTTGATGGTCTTCC	0.433													G|||	1	0.000199681	0	0	5008	,	,		20651	0.001		0	False		,,,				2504	0																0													91	87	88					11																	32975573		1905	4111	6016	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3961G>C	11.37:g.32975573G>C	ENSP00000382241:p.Asp1321His		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.D1321H	ENST00000399302.2	37	c.3961	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.067845|4.067845	0.76301|0.76301	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|T	0.27256|0.32753	2.02;1.68|1.44	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.164816|.	0.41500|.	D|.	0.000878|.	T|T	0.46658|0.46658	0.1404|0.1404	M|M	0.67953|0.67953	2.075|2.075	0.47659|0.47659	D|D	0.999489|0.999489	D;D;D|.	0.71674|.	0.998;0.969;0.983|.	D;P;P|.	0.63113|.	0.911;0.655;0.65|.	T|T	0.16012|0.16012	-1.0417|-1.0417	10|7	0.66056|0.33141	D|T	0.02|0.24	.|.	14.4782|14.4782	0.67562|0.67562	0.0698:0.0:0.9302:0.0|0.0698:0.0:0.9302:0.0	.|.	1082;1082;1321|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|F	1321;1082;1082|341	ENSP00000382241:D1321H;ENSP00000432766:D1082H|ENSP00000432136:L341F	ENSP00000078652:D1082H|ENSP00000432136:L341F	D|L	+|+	1|3	0|2	QSER1|QSER1	32932149|32932149	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.942000|0.942000	0.58702|0.58702	3.916000|3.916000	0.56416|0.56416	2.810000|2.810000	0.96702|0.96702	0.585000|0.585000	0.79938|0.79938	GAT|TTG	QSER1	-	NULL		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	G	NM_024774		32975573	1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32975573	G	C	32975573	3	2	160	1	0	0	0	0	1	0	0	0	12912	1290	45	1	3971	1	QSER1	11	32975573	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1493351	32975573	102030943	1266	29539										
CSTF3	1479	genome.wustl.edu	37	chr11	33113844	33113844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctcaggaggaaggcttccaGatgttaaaactcgttcaaac	9	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:33113844G>C	ENST00000323959.4	-	16	1557	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	473					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAGGCTTCCAGATGTTAAAAC	0.358																																																	0													110	114	113					11																	33113844		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1418C>G	11.37:g.33113844G>C	ENSP00000315791:p.Ser473Cys		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.S473C	ENST00000323959.4	37	c.1418	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939606	0.92526	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36699	1.24	6.07	6.07	0.98685	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.70219	-0.4932	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	473	Q12996	CSTF3_HUMAN	C	473;406	ENSP00000315791:S473C	ENSP00000315791:S473C	S	-	2	0	CSTF3	33070420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.890000	0.99128	0.585000	0.79938	TCT	CSTF3	-	pfam_Suf,smart_HAT		0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	G	NM_001326		33113844	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33113844	G	C	33113844	3	2	160	1	0	0	0	0	1	0	0	0	3991	942	33	1	759	1	CSTF3	11	33113844	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	138271	33113844	101892672	1267	29540										
PDHX	8050	genome.wustl.edu	37	chr11	34988258	34988258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaccaactccagcccccaCagccactcccacagcacctt	4	22	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:34988258C>T	ENST00000227868.4	+	6	797	c.713C>T	c.(712-714)aCa>aTa	p.T238I	PDHX_ENST00000448838.3_Missense_Mutation_p.T223I|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	238					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCAGCCCCCACAGCCACTCCC	0.532																																																	0													116	116	116					11																	34988258		2202	4298	6500	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.713C>T	11.37:g.34988258C>T	ENSP00000227868:p.Thr238Ile		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.T238I	ENST00000227868.4	37	c.713	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332509	0.24167	.	.	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.24723	2.43;1.84	5.6	3.75	0.43078	.	0.609778	0.17861	N	0.159531	T	0.12518	0.0304	N	0.08118	0	0.20074	N	0.999935	B;B	0.30686	0.29;0.112	B;B	0.26693	0.072;0.047	T	0.17048	-1.0382	10	0.39692	T	0.17	1.7971	9.7127	0.40256	0.0:0.8388:0.0:0.1612	.	223;238	E9PB14;O00330	.;ODPX_HUMAN	I	223;238	ENSP00000389404:T223I;ENSP00000227868:T238I	ENSP00000227868:T238I	T	+	2	0	PDHX	34944834	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.878000	0.28126	0.749000	0.32854	-0.261000	0.10672	ACA	PDHX	-	NULL		0.532	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	C	NM_003477		34988258	1	no_errors	ENST00000227868	ensembl	human	known	70_37	missense	SNP	0.030	T	T	34988258	C	T	34988258	3	4	160	1	0	0	0	0	1	0	0	0	11691	478	17	4	854	4	PDHX	11	34988258	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1874414	34988258	100018258	1268	29541										
PAMR1	25891	genome.wustl.edu	37	chr11	35492237	35492237	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggagtgaggatcctatgctCtggataggagctggccgctc	15	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:35492237C>G	ENST00000378880.2	-	5	1069	c.624G>C	c.(622-624)caG>caC	p.Q208H	PAMR1_ENST00000532848.1_Missense_Mutation_p.Q168H|PAMR1_ENST00000278360.3_Missense_Mutation_p.Q208H|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	208	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCTATGCTCTGGATAGGAG	0.517																																																	0													125	107	113					11																	35492237		2202	4298	6500	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.624G>C	11.37:g.35492237C>G	ENSP00000368158:p.Gln208His		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q208H	ENST00000378880.2	37	c.624	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080273	0.20309	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.39	-0.671	0.11381	CUB (5);	0.319618	0.33854	N	0.004487	T	0.31638	0.0803	N	0.12746	0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.03957	-1.0989	10	0.87932	D	0	.	4.7772	0.13185	0.0:0.2208:0.3071:0.4721	.	208;208	Q6UXH9;Q6UXH9-2	PAMR1_HUMAN;.	H	208;208;168;168	ENSP00000278360:Q208H;ENSP00000368158:Q208H;ENSP00000433868:Q168H;ENSP00000432591:Q168H	ENSP00000278360:Q208H	Q	-	3	2	PAMR1	35448813	0.920000	0.31207	0.973000	0.42090	0.117000	0.20001	0.017000	0.13399	-0.011000	0.14247	-0.175000	0.13238	CAG	PAMR1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	C	NM_015430		35492237	-1	no_errors	ENST00000278360	ensembl	human	known	70_37	missense	SNP	0.997	G	G	35492237	C	G	35492237	3	3	160	1	0	0	0	0	1	0	0	0	11437	912	32	1	1621	1	PAMR1	11	35492237	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	503979	35492237	99514279	1269	29542										
RAG1	5896	genome.wustl.edu	37	chr11	36596661	36596661	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtggtgaaggagtcttgtGatggaatgggagacgtgagt	19	2	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:36596661G>C	ENST00000299440.5	+	2	1919	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	603					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAGTCTTGTGATGGAATGGG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													111	92	98					11																	36596661		2202	4298	6500	SO:0001583	missense	5896	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1807G>C	11.37:g.36596661G>C	ENSP00000299440:p.Asp603His		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.D603H	ENST00000299440.5	37	c.1807	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961428	0.74016	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.91996	-2.95;-2.95	5.92	5.92	0.95590	.	0.056069	0.64402	D	0.000001	D	0.97682	0.9240	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98137	1.0434	10	0.87932	D	0	.	20.3724	0.98894	0.0:0.0:1.0:0.0	.	603	P15918	RAG1_HUMAN	H	603	ENSP00000434610:D603H;ENSP00000299440:D603H	ENSP00000299440:D603H	D	+	1	0	RAG1	36553237	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	9.476000	0.97823	2.818000	0.97014	0.644000	0.83932	GAT	RAG1	-	NULL		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	G	NM_000448		36596661	1	no_errors	ENST00000299440	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36596661	G	C	36596661	3	2	160	1	0	0	0	0	1	0	0	0	13033	1290	45	1	1809	1	RAG1	11	36596661	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1104424	36596661	98409855	1270	29543										
ALKBH3	221120	genome.wustl.edu	37	chr11	43911305	43911305	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatcctggctttgttgacgtGaaagaagctgactggatatt	11	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:43911305G>A	ENST00000302708.4	+	6	708	c.297G>A	c.(295-297)gtG>gtA	p.V99V	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Silent_p.V98V	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	99					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TTGTTGACGTGAAAGAAGCTG	0.428								Direct reversal of damage																																									0													154	142	146					11																	43911305		2203	4300	6503	SO:0001819	synonymous_variant	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.297G>A	11.37:g.43911305G>A			A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.V99	ENST00000302708.4	37	c.297	CCDS7906.1	11																																																																																			ALKBH3	-	NULL		0.428	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	G	NM_139178		43911305	1	no_errors	ENST00000302708	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43911305	G	A	43911305	2	1	160	1	0	0	0	0	0	0	0	1	528	1277	45	1		1	ALKBH3	11	43911305	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7314644	43911305	91095211	1271	29544										
PRDM11	56981	genome.wustl.edu	37	chr11	45241295	45241295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccaggaaaccattcaccgCaacctggccagaggtgagtg	11	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:45241295C>T	ENST00000530656.1	+	6	831	c.831C>T	c.(829-831)cgC>cgT	p.R277R	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000263765.4_Silent_p.R277R|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Silent_p.R243R			Q9NQV5	PRD11_HUMAN	PR domain containing 11	277							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCATTCACCGCAACCTGGCCA	0.612																																					NSCLC(118;1511 1736 6472 36603 43224)												0													48	34	39					11																	45241295		2203	4299	6502	SO:0001819	synonymous_variant	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.831C>T	11.37:g.45241295C>T			Q8N9F1	Silent	SNP	pfscan_SET_dom	p.R277	ENST00000530656.1	37	c.831		11																																																																																			PRDM11	-	NULL		0.612	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	C	NM_020229		45241295	1	no_errors	ENST00000263765	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45241295	C	T	45241295	2	4	160	1	0	0	0	0	0	0	0	1	12479	697	25	4		4	PRDM11	11	45241295	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1329990	45241295	89765221	1272	29545										
DGKZ	8525	genome.wustl.edu	37	chr11	46388884	46388884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccagcacctggccccccctCcgcccacccctggggccccg	9	25	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:46388884C>T	ENST00000454345.1	+	3	897	c.772C>T	c.(772-774)Ccg>Tcg	p.P258S	DGKZ_ENST00000532868.2_Missense_Mutation_p.P74S|DGKZ_ENST00000343674.6_Missense_Mutation_p.P86S|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000527911.1_Missense_Mutation_p.P69S|DGKZ_ENST00000456247.2_Missense_Mutation_p.P69S|DGKZ_ENST00000318201.8_Missense_Mutation_p.P69S|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.P69S|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Missense_Mutation_p.P35S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	258	Poly-Pro.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGCCCCCCCTCCGCCCACCCC	0.657																																																	0													26	31	29					11																	46388884		2197	4299	6496	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.772C>T	11.37:g.46388884C>T	ENSP00000412178:p.Pro258Ser		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P258S	ENST00000454345.1	37	c.772	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119660	0.08881	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T	0.21543	2.57;2.75;2.8;3.74;2.57;2.63;2.72;2.0	4.64	2.59	0.31030	.	0.275106	0.41938	D	0.000792	T	0.12603	0.0306	L	0.37630	1.12	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B	0.32753	0.048;0.048;0.103;0.048;0.014;0.081;0.081;0.048;0.383;0.005	B;B;B;B;B;B;B;B;B;B	0.34418	0.041;0.028;0.067;0.041;0.007;0.09;0.09;0.041;0.182;0.016	T	0.11743	-1.0575	10	0.19147	T	0.46	.	2.9442	0.05840	0.238:0.393:0.2802:0.0888	.	69;35;35;69;258;69;69;35;35;86	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	S	86;35;35;69;69;69;69;258	ENSP00000343065:P86S;ENSP00000378941:P35S;ENSP00000436273:P35S;ENSP00000436291:P69S;ENSP00000395684:P69S;ENSP00000391021:P69S;ENSP00000320340:P69S;ENSP00000412178:P258S	ENSP00000320340:P69S	P	+	1	0	DGKZ	46345460	0.134000	0.22483	0.610000	0.28997	0.471000	0.32888	0.869000	0.27996	1.286000	0.44565	0.555000	0.69702	CCG	DGKZ	-	NULL		0.657	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	C	NM_001105540		46388884	1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	0.005	T	T	46388884	C	T	46388884	3	4	160	1	0	0	0	0	1	0	0	0	4484	855	30	1	1222	1	DGKZ	11	46388884	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1147589	46388884	88617632	1273	29546										
DGKZ	8525	genome.wustl.edu	37	chr11	46389291	46389291	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagcagtactgtgtagccagGatgctggtgagtgctcgtag	16	7	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:46389291G>C	ENST00000454345.1	+	4	1052	c.927G>C	c.(925-927)agG>agC	p.R309S	DGKZ_ENST00000532868.2_Missense_Mutation_p.R124S|DGKZ_ENST00000343674.6_Missense_Mutation_p.R137S|DGKZ_ENST00000527911.1_Missense_Mutation_p.R120S|DGKZ_ENST00000456247.2_Missense_Mutation_p.R120S|DGKZ_ENST00000318201.8_Missense_Mutation_p.R120S|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R120S|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Missense_Mutation_p.R86S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	309					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GTGTAGCCAGGATGCTGGTGA	0.647											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													107	89	95					11																	46389291		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.927G>C	11.37:g.46389291G>C	ENSP00000412178:p.Arg309Ser	938	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R309S	ENST00000454345.1	37	c.927	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250038	0.59212	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.83755	-1.76;2.67;2.73;3.67;-1.76;2.56;2.66;1.97;3.0	5.16	4.24	0.50183	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.192570	0.56097	D	0.000031	T	0.70064	0.3181	N	0.24115	0.695	0.24938	N	0.991876	B;B;B;B;B;B;B;B;B;B	0.32467	0.311;0.311;0.157;0.009;0.02;0.053;0.053;0.077;0.372;0.151	B;B;B;B;B;B;B;B;B;B	0.30316	0.066;0.066;0.066;0.033;0.04;0.096;0.096;0.066;0.114;0.066	T	0.64711	-0.6343	10	0.62326	D	0.03	.	8.6562	0.34064	0.2316:0.0:0.7684:0.0	.	120;85;86;120;309;120;120;86;86;137	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	S	137;86;85;120;120;120;120;309;30	ENSP00000343065:R137S;ENSP00000378941:R86S;ENSP00000436273:R85S;ENSP00000436291:R120S;ENSP00000395684:R120S;ENSP00000391021:R120S;ENSP00000320340:R120S;ENSP00000412178:R309S;ENSP00000435763:R30S	ENSP00000320340:R120S	R	+	3	2	DGKZ	46345867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.916000	0.28651	1.319000	0.45190	0.555000	0.69702	AGG	DGKZ	-	smart_Prot_Kinase_C-like_PE/DAG-bd		0.647	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46389291	1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46389291	G	C	46389291	3	2	160	1	0	0	0	0	1	0	0	0	4484	1165	41	1	1381	1	DGKZ	11	46389291	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	407	46389291	88617225	1274	29547										
CKAP5	9793	genome.wustl.edu	37	chr11	46771957	46771957	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagcatctgagtatttcttCttatattcatataactctgc	4	9	6	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:46771957C>G	ENST00000529230.1	-	42	5617	c.5571G>C	c.(5569-5571)aaG>aaC	p.K1857N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K1864N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K1797N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1797N|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1857					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGTATTTCTTCTTATATTCAT	0.428																																					Ovarian(4;85 273 2202 4844 13323)												0													105	103	104					11																	46771957		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5571G>C	11.37:g.46771957C>G	ENSP00000432768:p.Lys1857Asn		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K1864N	ENST00000529230.1	37	c.5592	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.361786|4.361786	0.82353|0.82353	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000525896|ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.|T;T;T;T	.|0.66815	.|-0.23;-0.23;0.61;0.61	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79793|0.79793	0.4507|0.4507	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.89917	.|1.0;0.999;0.998	.|D;D;D	.|0.85130	.|0.997;0.994;0.987	T|T	0.78828|0.78828	-0.2050|-0.2050	5|10	.|0.38643	.|T	.|0.18	-10.3637|-10.3637	10.7092|10.7092	0.45973|0.45973	0.0:0.8844:0.0:0.1156|0.0:0.8844:0.0:0.1156	.|.	.|1864;1797;1857	.|Q14008-3;Q14008-2;Q14008	.|.;.;CKAP5_HUMAN	Q|N	96|1857;1864;1797;1797	.|ENSP00000432768:K1857N;ENSP00000395302:K1864N;ENSP00000310227:K1797N;ENSP00000346566:K1797N	.|ENSP00000310227:K1797N	E|K	-|-	1|3	0|2	CKAP5|CKAP5	46728533|46728533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.493000|1.493000	0.35605|0.35605	2.649000|2.649000	0.89929|0.89929	0.549000|0.549000	0.68633|0.68633	GAA|AAG	CKAP5	-	superfamily_ARM-type_fold		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	C	NM_014756		46771957	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46771957	C	G	46771957	3	3	160	1	0	0	0	0	1	0	0	0	3450	912	32	1	539	1	CKAP5	11	46771957	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	382666	46771957	88234559	1275	29548										
MADD	8567	genome.wustl.edu	37	chr11	47297526	47297526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccttctgcatgaccttcgaGagattgaggcctggatctat	10	11	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:47297526G>C	ENST00000311027.5	+	4	901	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	MADD_ENST00000402799.1_Missense_Mutation_p.E246Q|MADD_ENST00000395344.3_Missense_Mutation_p.E246Q|MADD_ENST00000395336.3_Missense_Mutation_p.E246Q|MADD_ENST00000342922.4_Missense_Mutation_p.E246Q|MADD_ENST00000402192.2_Missense_Mutation_p.E246Q|MADD_ENST00000407859.3_Missense_Mutation_p.E246Q|MADD_ENST00000406482.1_Missense_Mutation_p.E246Q|MADD_ENST00000349238.3_Missense_Mutation_p.E246Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGACCTTCGAGAGATTGAGGC	0.562																																																	0													164	144	151					11																	47297526		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.736G>C	11.37:g.47297526G>C	ENSP00000310933:p.Glu246Gln			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E246Q	ENST00000311027.5	37	c.736	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.079667	0.94050	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.64	5.64	0.86602	DENN (3);	0.052970	0.85682	D	0.000000	T	0.32010	0.0815	L	0.40543	1.245	0.80722	D	1	D;P;D;P;P;P;P;D;P;D	0.89917	1.0;0.608;1.0;0.503;0.503;0.725;0.503;0.999;0.743;0.999	D;P;D;P;P;P;P;D;P;D	0.87578	0.998;0.53;0.998;0.524;0.524;0.511;0.499;0.997;0.846;0.982	T	0.00829	-1.1549	10	0.54805	T	0.06	-25.5021	19.7013	0.96054	0.0:0.0:1.0:0.0	.	246;246;246;246;246;246;246;246;246;246	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	246;246;24;246;246;246;246;246;246;246;246	ENSP00000343902:E246Q;ENSP00000398167:E24Q;ENSP00000385585:E246Q;ENSP00000384435:E246Q;ENSP00000304505:E246Q;ENSP00000310933:E246Q;ENSP00000384204:E246Q;ENSP00000378753:E246Q;ENSP00000378745:E246Q;ENSP00000384287:E246Q	ENSP00000310933:E246Q	E	+	1	0	MADD	47254102	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.476000	0.97823	2.657000	0.90304	0.655000	0.94253	GAG	MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47297526	1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47297526	G	C	47297526	3	2	160	1	0	0	0	0	1	0	0	0	9175	943	33	1	746	1	MADD	11	47297526	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	525569	47297526	87708990	1276	29549										
OR4C3	256144	genome.wustl.edu	37	chr11	48347189	48347189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaacagtggtttaatctgcCtgttgaacttcctcatgctg	8	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:48347189C>G	ENST00000319856.4	+	1	718	c.697C>G	c.(697-699)Ctg>Gtg	p.L233V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTAATCTGCCTGTTGAACTT	0.512																																																	0													280	186	218					11																	48347189		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.697C>G	11.37:g.48347189C>G	ENSP00000321419:p.Leu233Val		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L233V	ENST00000319856.4	37	c.697	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	C	8.722	0.914566	0.17907	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.39056	1.1	5.88	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001048	T	0.26122	0.0637	N	0.13299	0.325	0.26831	N	0.968577	B	0.31153	0.31	B	0.42245	0.381	T	0.19516	-1.0303	10	0.16420	T	0.52	.	4.1357	0.10169	0.167:0.5945:0.0:0.2386	.	206	Q8NH37	OR4C3_HUMAN	V	233;96	ENSP00000321419:L233V	ENSP00000321419:L233V	L	+	1	2	OR4C3	48303765	0.000000	0.05858	0.998000	0.56505	0.653000	0.38743	-3.286000	0.00526	1.541000	0.49316	0.549000	0.68633	CTG	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	C	NM_001004702		48347189	1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.960	G	G	48347189	C	G	48347189	3	3	160	1	0	0	0	0	1	0	0	0	11074	680	24	4	699	4	OR4C3	11	48347189	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1049663	48347189	86659327	1277	29550										
OR4C3	256144	genome.wustl.edu	37	chr11	48347369	48347369	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cattttctactttacctataGacaaaaatatggcattattt	3	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:48347369G>C	ENST00000319856.4	+	1	898	c.877G>C	c.(877-879)Gac>Cac	p.D293H		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTACCTATAGACAAAAATAT	0.378																																																	0													180	178	179					11																	48347369		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.877G>C	11.37:g.48347369G>C	ENSP00000321419:p.Asp293His		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D293H	ENST00000319856.4	37	c.877	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572413	0.28092	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00253	8.43	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.230997	0.30311	N	0.009919	T	0.00936	0.0031	M	0.93283	3.4	0.24979	N	0.991614	D	0.89917	1.0	D	0.91635	0.999	T	0.34354	-0.9832	10	0.87932	D	0	.	17.9278	0.88989	0.0:0.0:1.0:0.0	.	266	Q8NH37	OR4C3_HUMAN	H	293;156	ENSP00000321419:D293H	ENSP00000321419:D293H	D	+	1	0	OR4C3	48303945	0.938000	0.31826	0.171000	0.22900	0.011000	0.07611	2.380000	0.44327	2.838000	0.97847	0.561000	0.74099	GAC	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.378	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	G	NM_001004702		48347369	1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.514	C	C	48347369	G	C	48347369	3	2	160	1	0	0	0	0	1	0	0	0	11074	942	33	1	879	1	OR4C3	11	48347369	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	180	48347369	86659147	1278	29551										
OR5L1	219437	genome.wustl.edu	37	chr11	55579658	55579658	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcaggcacaaagccttctCcacctgtgcttcccacctca	8	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:55579658C>G	ENST00000333973.2	+	1	805	c.716C>G	c.(715-717)tCc>tGc	p.S239C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGCCTTCTCCACCTGTGCT	0.498																																																	0													186	152	163					11																	55579658		2200	4296	6496	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.716C>G	11.37:g.55579658C>G	ENSP00000335529:p.Ser239Cys		B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239C	ENST00000333973.2	37	c.716	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	c	15.21	2.766468	0.49574	.	.	ENSG00000186117	ENST00000333973	T	0.00314	8.14	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.01156	0.0038	H	0.97131	3.945	0.28035	N	0.933986	D	0.89917	1.0	D	0.79108	0.992	T	0.05209	-1.0899	10	0.87932	D	0	-51.0635	15.121	0.72443	0.0:1.0:0.0:0.0	.	239	Q8NGL2	OR5L1_HUMAN	C	239	ENSP00000335529:S239C	ENSP00000335529:S239C	S	+	2	0	OR5L1	55336234	0.000000	0.05858	0.963000	0.40424	0.818000	0.46254	0.466000	0.22019	1.875000	0.54330	0.428000	0.28381	TCC	OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	C	NM_001004738		55579658	1	no_errors	ENST00000333973	ensembl	human	known	70_37	missense	SNP	0.859	G	G	55579658	C	G	55579658	3	3	160	1	0	0	0	0	1	0	0	0	11194	855	30	1	718	1	OR5L1	11	55579658	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7232289	55579658	79426858	1279	29552										
OR8I2	120586	genome.wustl.edu	37	chr11	55861422	55861422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttagctctctccttatcatCacagtcacttatatcatcat	2	13	6	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:55861422C>T	ENST00000302124.2	+	1	670	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCTTATCATCACAGTCACTT	0.498																																																	0													145	123	130					11																	55861422		2201	4296	6497	SO:0001819	synonymous_variant	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.639C>T	11.37:g.55861422C>T			B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I213	ENST00000302124.2	37	c.639	CCDS31517.1	11																																																																																			OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		C	NM_001003750		55861422	1	no_errors	ENST00000302124	ensembl	human	known	70_37	silent	SNP	0.006	T	T	55861422	C	T	55861422	2	4	160	1	0	0	0	0	0	0	0	1	11264	816	29	1		1	OR8I2	11	55861422	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	281764	55861422	79145094	1280	29553										
OR5T3	390154	genome.wustl.edu	37	chr11	56020110	56020110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actacagaatgttttctcttGgctgcaatggcttatgatca	8	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:56020110G>C	ENST00000303059.3	+	1	435	c.435G>C	c.(433-435)ttG>ttC	p.L145F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTTCTCTTGGCTGCAATGG	0.408																																																	0													199	189	193					11																	56020110		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.435G>C	11.37:g.56020110G>C	ENSP00000305403:p.Leu145Phe		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L145F	ENST00000303059.3	37	c.435	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064517	0.36470	.	.	ENSG00000172489	ENST00000303059	T	0.02103	4.45	4.65	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	N	0.002068	T	0.12305	0.0299	M	0.87758	2.905	0.24615	N	0.993702	D	0.89917	1.0	D	0.97110	1.0	T	0.01118	-1.1446	10	0.66056	D	0.02	.	9.3185	0.37948	0.0863:0.2817:0.632:0.0	.	145	Q8NGG3	OR5T3_HUMAN	F	145	ENSP00000305403:L145F	ENSP00000305403:L145F	L	+	3	2	OR5T3	55776686	0.047000	0.20315	0.964000	0.40570	0.383000	0.30230	-0.010000	0.12743	2.569000	0.86673	0.643000	0.83706	TTG	OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	G	NM_001004747		56020110	1	no_errors	ENST00000303059	ensembl	human	known	70_37	missense	SNP	0.697	C	C	56020110	G	C	56020110	3	2	160	1	0	0	0	0	1	0	0	0	11207	1339	47	4	437	4	OR5T3	11	56020110	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	158688	56020110	78986406	1281	29554										
OR9G1	390174	genome.wustl.edu	37	chr11	56468523	56468523	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggcctcctacctctttatCatcaccagtgtcttgaggat	7	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:56468523C>T	ENST00000312153.1	+	1	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCTCTTTATCATCACCAGTG	0.527																																																	0													178	178	178					11																	56468523		2201	4296	6497	SO:0001819	synonymous_variant	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.660C>T	11.37:g.56468523C>T			Q6IEU9|Q8NGQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I220	ENST00000312153.1	37	c.660	CCDS31536.1	11																																																																																			OR9G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G1	HGNC	protein_coding	OTTHUMT00000393253.1	C	NM_001005213		56468523	1	no_errors	ENST00000312153	ensembl	human	known	70_37	silent	SNP	0.954	T	T	56468523	C	T	56468523	2	4	160	1	0	0	0	0	0	0	0	1	11274	816	29	1		1	OR9G1	11	56468523	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	448413	56468523	78537993	1282	29555										
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57080766	57080766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taagctccagttggactctgCcccaaagggacgatccaggg	12	12	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57080766C>T	ENST00000532437.1	-	4	1707	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A466T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	466	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGGACTCTGCCCCAAAGGGA	0.677																																																	0													25	25	25					11																	57080766		2188	4261	6449	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1396G>A	11.37:g.57080766C>T	ENSP00000437271:p.Ala466Thr		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.A466T	ENST00000532437.1	37	c.1396	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096760	0.20552	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.25414	1.8;1.8	4.01	0.272	0.15645	.	1.960470	0.03432	N	0.208012	T	0.12774	0.0310	N	0.08118	0	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.32370	T	0.25	.	2.9374	0.05819	0.1403:0.0921:0.1439:0.6237	.	466	Q9C0C2	TB182_HUMAN	T	466	ENSP00000350990:A466T;ENSP00000437271:A466T	ENSP00000350990:A466T	A	-	1	0	TNKS1BP1	56837342	0.009000	0.17119	0.646000	0.29493	0.269000	0.26545	-0.038000	0.12144	-0.126000	0.11682	-1.214000	0.01621	GCA	TNKS1BP1	-	NULL		0.677	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57080766	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.911	T	T	57080766	C	T	57080766	3	4	160	1	0	0	0	0	1	0	0	0	16350	739	26	4	3821	4	TNKS1BP1	11	57080766	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	612243	57080766	77925750	1283	29556										
SMTNL1	219537	genome.wustl.edu	37	chr11	57310724	57310724	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggccaaggctgaatcgcaGaaggctgttgtggaggatga	17	6	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57310724G>A	ENST00000399154.2	+	2	538				SMTNL1_ENST00000457912.1_Silent_p.Q221Q|SMTNL1_ENST00000527972.1_Silent_p.Q203Q			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CTGAATCGCAGAAGGCTGTTG	0.552																																																	0													53	58	56					11																	57310724		2087	4204	6291	SO:0001627	intron_variant	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.539-8G>A	11.37:g.57310724G>A				Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Q221	ENST00000399154.2	37	c.663		11																																																																																			SMTNL1	-	NULL		0.552	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		G	XM_166203		57310724	1	no_errors	ENST00000457912	ensembl	human	known	70_37	silent	SNP	0.000	A	A	57310724	G	A	57310724	1	1	160	0	1	0	0	0	0	0	0	0	14845	933	33	1		1	SMTNL1	11	57310724	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	229958	57310724	77695792	1284	29557										
SMTNL1	219537	genome.wustl.edu	37	chr11	57310740	57310740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcagaaggctgttgtggagGatgaggctaaggctgaaccc	16	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57310740G>C	ENST00000399154.2	+	2	547	c.547G>C	c.(547-549)Gat>Cat	p.D183H	SMTNL1_ENST00000457912.1_Missense_Mutation_p.D227H|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D209H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	183	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGTTGTGGAGGATGAGGCTAA	0.552																																																	0													51	55	54					11																	57310740		2087	4210	6297	SO:0001583	missense	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.547G>C	11.37:g.57310740G>C	ENSP00000382108:p.Asp183His			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D227H	ENST00000399154.2	37	c.679		11	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871770	0.33069	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02812	4.15;4.15;4.15	4.97	4.97	0.65823	.	0.725457	0.10775	U	0.635501	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.43637	-0.9379	10	0.59425	D	0.04	0.002	15.6966	0.77506	0.0:0.0:1.0:0.0	.	227	C9J621	.	H	227;209;183	ENSP00000406485:D227H;ENSP00000432651:D209H;ENSP00000382108:D183H	ENSP00000382108:D183H	D	+	1	0	SMTNL1	57067316	0.192000	0.23301	0.004000	0.12327	0.005000	0.04900	1.603000	0.36794	2.304000	0.77564	0.563000	0.77884	GAT	SMTNL1	-	NULL		0.552	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		G	XM_166203		57310740	1	no_errors	ENST00000457912	ensembl	human	known	70_37	missense	SNP	0.010	C	C	57310740	G	C	57310740	3	2	160	1	0	0	0	0	1	0	0	0	14845	1174	41	1	685	1	SMTNL1	11	57310740	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	16	57310740	77695776	1285	29558										
CTNND1	1500	genome.wustl.edu	37	chr11	57564334	57564334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgtggatctgcatcgctttCatccagagccttatgggcta	11	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:57564334C>T	ENST00000399050.4	+	6	1362	c.826C>T	c.(826-828)Cat>Tat	p.H276Y	CTNND1_ENST00000534579.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.H276Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000528232.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000524630.1_Missense_Mutation_p.H276Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.H276Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.H276Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.H276Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.H276Y|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000426142.2_Missense_Mutation_p.H175Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.H276Y|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530748.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.H276Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.H222Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.H175Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.H175Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.H276Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.H276Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.H222Y	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	276					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCATCGCTTTCATCCAGAGCC	0.562																																																	0													129	138	135					11																	57564334		2130	4255	6385	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.826C>T	11.37:g.57564334C>T	ENSP00000382004:p.His276Tyr		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H276Y	ENST00000399050.4	37	c.826	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980166	0.53827	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.18;-0.18;-0.18;-0.55;-0.18;-0.18;-0.1;-0.19;-0.55;-0.19;-0.1;-0.1;-0.18;-0.44;-0.18;-0.18;-0.18;-0.18;-0.1;-0.54;-0.19;-0.19;-0.19;-0.19;-0.1;-0.18;-0.55;2.29	5.92	5.92	0.95590	Armadillo-like helical (1);	0.235104	0.45126	D	0.000386	T	0.68522	0.3010	L	0.40543	1.245	0.38121	D	0.937842	D;D;P;D;D;D;D;P	0.53745	0.962;0.962;0.936;0.962;0.962;0.959;0.962;0.936	B;B;B;B;B;P;B;B	0.49999	0.373;0.373;0.206;0.373;0.373;0.628;0.373;0.206	T	0.64390	-0.6419	10	0.02654	T	1	-0.5411	19.9276	0.97108	0.0:1.0:0.0:0.0	.	276;276;276;222;222;276;276;276	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	Y	276;276;276;276;276;222;175;276;276;276;175;175;276;175;222;222;222;276;175;222;222;222;175;175;175;222;276;198	ENSP00000436543:H276Y;ENSP00000434808:H276Y;ENSP00000381996:H276Y;ENSP00000353902:H276Y;ENSP00000354907:H276Y;ENSP00000436323:H222Y;ENSP00000409930:H175Y;ENSP00000382004:H276Y;ENSP00000354785:H276Y;ENSP00000354823:H276Y;ENSP00000432075:H175Y;ENSP00000437156:H175Y;ENSP00000351527:H276Y;ENSP00000434949:H175Y;ENSP00000435379:H222Y;ENSP00000432243:H222Y;ENSP00000436744:H222Y;ENSP00000413586:H276Y;ENSP00000435266:H175Y;ENSP00000435494:H222Y;ENSP00000433276:H222Y;ENSP00000433334:H222Y;ENSP00000437327:H175Y;ENSP00000403518:H175Y;ENSP00000434017:H175Y;ENSP00000435789:H222Y;ENSP00000432041:H276Y;ENSP00000434202:H198Y	ENSP00000351527:H276Y	H	+	1	0	CTNND1	57320910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.403000	0.59729	2.805000	0.96524	0.655000	0.94253	CAT	CTNND1	-	NULL		0.562	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	C	NM_001331		57564334	1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57564334	C	T	57564334	3	4	160	1	0	0	0	0	1	0	0	0	4024	826	29	1	840	1	CTNND1	11	57564334	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	253594	57564334	77442182	1286	29559										
OR5B21	219968	genome.wustl.edu	37	chr11	58275441	58275441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatgggagtctgagtggatGatcaccatcattcccccatt	10	10	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:58275441G>A	ENST00000360374.2	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGAGTGGATGATCACCATCA	0.483																																																	0													115	102	107					11																	58275441		2201	4295	6496	SO:0001819	synonymous_variant	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.138C>T	11.37:g.58275441G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I46	ENST00000360374.2	37	c.138	CCDS31552.1	11																																																																																			OR5B21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	G	NM_001005218		58275441	-1	no_errors	ENST00000360374	ensembl	human	known	70_37	silent	SNP	0.002	A	A	58275441	G	A	58275441	2	1	160	1	0	0	0	0	0	0	0	1	11175	1280	45	1		1	OR5B21	11	58275441	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	711107	58275441	76731075	1287	29560										
OR4D11	219986	genome.wustl.edu	37	chr11	59271208	59271208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaccgtgacctgtgagtctCgccttcacacccccatgtac	7	17	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:59271208C>T	ENST00000313253.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTGAGTCTCGCCTTCACAC	0.498																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											205	199	201					11																	59271208		2201	4295	6496	SO:0001583	missense	219986			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.160C>T	11.37:g.59271208C>T	ENSP00000320077:p.Arg54Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R54C	ENST00000313253.1	37	c.160	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515226	0.27123	.	.	ENSG00000176200	ENST00000313253	T	0.01152	5.26	5.45	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.125586	0.36482	N	0.002574	T	0.02304	0.0071	M	0.70108	2.13	0.18873	N	0.999987	B	0.11235	0.004	B	0.14023	0.01	T	0.26883	-1.0090	10	0.48119	T	0.1	-10.5892	13.1502	0.59484	0.0:0.9217:0.0:0.0783	.	54	Q8NGI4	OR4DB_HUMAN	C	54	ENSP00000320077:R54C	ENSP00000320077:R54C	R	+	1	0	OR4D11	59027784	0.000000	0.05858	0.626000	0.29213	0.852000	0.48524	0.379000	0.20585	1.300000	0.44818	0.563000	0.77884	CGC	OR4D11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	HGNC	protein_coding	OTTHUMT00000394236.1	C	NM_001004706		59271208	1	no_errors	ENST00000313253	ensembl	human	known	70_37	missense	SNP	0.060	T	T	59271208	C	T	59271208	3	4	160	1	0	0	0	0	1	0	0	0	11079	884	31	1	162	1	OR4D11	11	59271208	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	995767	59271208	75735308	1288	29561										
VWCE	220001	genome.wustl.edu	37	chr11	61049276	61049276	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accttcacaggacacgcggtCagctcggagcctgaagccag	12	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:61049276C>G	ENST00000335613.5	-	7	1155	c.769G>C	c.(769-771)Gac>Cac	p.D257H		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	257	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GACACGCGGTCAGCTCGGAGC	0.677																																																	0													95	77	83					11																	61049276		2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.769G>C	11.37:g.61049276C>G	ENSP00000334186:p.Asp257His		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.D257H	ENST00000335613.5	37	c.769	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673256	0.88445	.	.	ENSG00000167992	ENST00000335613	D	0.93712	-3.27	4.71	4.71	0.59529	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.284388	0.26026	N	0.026787	D	0.97015	0.9025	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97752	1.0215	10	0.72032	D	0.01	.	16.8443	0.85976	0.0:1.0:0.0:0.0	.	257	Q96DN2	VWCE_HUMAN	H	257	ENSP00000334186:D257H	ENSP00000334186:D257H	D	-	1	0	VWCE	60805852	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	3.736000	0.55052	2.353000	0.79882	0.561000	0.74099	GAC	VWCE	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.677	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	C	NM_152718		61049276	-1	no_errors	ENST00000335613	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61049276	C	G	61049276	3	3	160	1	0	0	0	0	1	0	0	0	17276	826	29	1	2154	1	VWCE	11	61049276	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1778068	61049276	73957240	1289	29562										
RAB3IL1	5866	genome.wustl.edu	37	chr11	61665758	61665758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgggccgcgccctaagcctCctgggggaagaagccgagct	15	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:61665758C>T	ENST00000394836.2	-	10	1298	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.E355K	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	381					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CCCTAAGCCTCCTGGGGGAAG	0.627											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138	148	145					11																	61665758		2202	4299	6501	SO:0001583	missense	5866			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.1141G>A	11.37:g.61665758C>T	ENSP00000378313:p.Glu381Lys	1055	Q86V32|Q9P1Q8	Missense_Mutation	SNP	pfam_Sec2p	p.E381K	ENST00000394836.2	37	c.1141	CCDS8014.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337755	0.81911	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000526200	T;T	0.40756	1.02;1.1	4.71	4.71	0.59529	.	0.069284	0.56097	D	0.000023	T	0.60894	0.2304	M	0.78223	2.4	0.58432	D	0.999999	D;D	0.62365	0.991;0.983	P;P	0.56163	0.793;0.656	T	0.68780	-0.5318	10	0.87932	D	0	-2.9433	17.2468	0.87030	0.0:1.0:0.0:0.0	.	355;381	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	K	381;355;64	ENSP00000378313:E381K;ENSP00000301773:E355K	ENSP00000301773:E355K	E	-	1	0	RAB3IL1	61422334	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.282000	0.58971	2.173000	0.68751	0.462000	0.41574	GAG	RAB3IL1	-	NULL		0.627	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IL1	HGNC	protein_coding	OTTHUMT00000394917.1	C	NM_013401		61665758	-1	no_errors	ENST00000394836	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61665758	C	T	61665758	3	4	160	1	0	0	0	0	1	0	0	0	12967	864	30	1	11	1	RAB3IL1	11	61665758	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	616482	61665758	73340758	1290	29563										
TUT1	64852	genome.wustl.edu	37	chr11	62342669	62342669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcggggtcacagtgagcattCggtcagccggggagacagac	17	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62342669C>T	ENST00000476907.1	-	9	3213	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000329251.4_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	841					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGAGCATTCGGTCAGCCGG	0.567																																																	0													82	77	79					11																	62342669		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2522G>A	11.37:g.62342669C>T	ENSP00000419607:p.Arg841Gln		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R879Q	ENST00000476907.1	37	c.2636		11	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210368	0.06140	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.35236	1.32;1.33	4.84	1.31	0.21738	.	0.716433	0.13689	N	0.369673	T	0.08492	0.0211	N	0.00246	-1.78	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36237	-0.9756	10	0.20046	T	0.44	-3.619	7.227	0.26020	0.0:0.2844:0.0:0.7156	.	841;879	Q9H6E5;F5H0R1	STPAP_HUMAN;.	Q	879;841	ENSP00000308000:R879Q;ENSP00000419607:R841Q	ENSP00000308000:R879Q	R	-	2	0	TUT1	62099245	0.012000	0.17670	0.096000	0.21009	0.084000	0.17831	0.333000	0.19768	0.060000	0.16281	-0.302000	0.09304	CGA	TUT1	-	NULL		0.567	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62342669	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	0.183	T	T	62342669	C	T	62342669	3	4	160	1	0	0	0	0	1	0	0	0	16811	884	31	1	106	1	TUT1	11	62342669	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	676911	62342669	72663847	1291	29564										
MTA2	9219	genome.wustl.edu	37	chr11	62363281	62363281	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcttcagtcccccatacttCttccagtagatccaacagga	6	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62363281C>G	ENST00000278823.2	-	13	1586	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	MTA2_ENST00000524902.1_Missense_Mutation_p.K226N|MTA2_ENST00000527204.1_Missense_Mutation_p.K226N	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	399					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCCCATACTTCTTCCAGTAGA	0.572																																																	0													75	76	75					11																	62363281		2202	4299	6501	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1197G>C	11.37:g.62363281C>G	ENSP00000278823:p.Lys399Asn		Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.K399N	ENST00000278823.2	37	c.1197	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588638	0.66105	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	D;D;D	0.99695	-6.43;-6.43;-6.43	5.42	3.56	0.40772	Zinc finger, GATA-type (2);	0.094060	0.64402	D	0.000001	D	0.99606	0.9857	M	0.84948	2.725	0.58432	D	0.999999	D	0.62365	0.991	D	0.76071	0.987	D	0.98816	1.0745	10	0.72032	D	0.01	-22.5186	9.6018	0.39609	0.0:0.831:0.0:0.169	.	399	O94776	MTA2_HUMAN	N	399;226;226	ENSP00000278823:K399N;ENSP00000431346:K226N;ENSP00000431797:K226N	ENSP00000278823:K399N	K	-	3	2	MTA2	62119857	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.155000	0.50700	0.675000	0.31264	-0.140000	0.14226	AAG	MTA2	-	pfam_Znf_GATA,smart_Znf_GATA		0.572	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	C	NM_004739		62363281	-1	no_errors	ENST00000278823	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62363281	C	G	62363281	3	3	160	1	0	0	0	0	1	0	0	0	9932	912	32	1	833	1	MTA2	11	62363281	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	20612	62363281	72643235	1292	29565										
METTL12	751071	genome.wustl.edu	37	chr11	62434026	62434026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaggcacaggctgccagtCctctgcgagtgctggatgtg	16	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62434026C>T	ENST00000532971.1	+	3	483	c.226C>T	c.(226-228)Cct>Tct	p.P76S	RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	76						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGCTGCCAGTCCTCTGCGAGT	0.587																																																	0													53	61	58					11																	62434026		2015	4185	6200	SO:0001583	missense	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.226C>T	11.37:g.62434026C>T	ENSP00000431287:p.Pro76Ser		B7Z4C1	Missense_Mutation	SNP	pfam_Methyltransf_11	p.P76S	ENST00000532971.1	37	c.226	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977110	0.34848	.	.	ENSG00000214756	ENST00000532971	T	0.44881	0.91	4.9	2.93	0.34026	.	0.407958	0.16543	U	0.209849	T	0.31702	0.0805	L	0.47078	1.49	0.09310	N	1	B	0.25850	0.136	B	0.27608	0.081	T	0.19386	-1.0307	10	0.21014	T	0.42	-4.6219	6.3673	0.21461	0.1791:0.7265:0.0:0.0943	.	76	A8MUP2	MTL12_HUMAN	S	76	ENSP00000431287:P76S	ENSP00000431287:P76S	P	+	1	0	METTL12	62190602	0.082000	0.21442	0.006000	0.13384	0.546000	0.35178	0.847000	0.27696	0.704000	0.31869	0.591000	0.81541	CCT	METTL12	-	NULL		0.587	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62434026	1	no_errors	ENST00000532971	ensembl	human	known	70_37	missense	SNP	0.004	T	T	62434026	C	T	62434026	3	4	160	1	0	0	0	0	1	0	0	0	9519	855	30	1	232	1	METTL12	11	62434026	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	70745	62434026	72572490	1293	29566										
METTL12	751071	genome.wustl.edu	37	chr11	62434345	62434345	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagggcttaccagcttctatCagaatgcttgagggttctaa	10	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62434345C>G	ENST00000532971.1	+	3	802	c.545C>G	c.(544-546)tCa>tGa	p.S182*	RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	182						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CAGCTTCTATCAGAATGCTTG	0.562																																																	0													50	51	51					11																	62434345		1913	4128	6041	SO:0001587	stop_gained	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.545C>G	11.37:g.62434345C>G	ENSP00000431287:p.Ser182*		B7Z4C1	Nonsense_Mutation	SNP	pfam_Methyltransf_11	p.S182*	ENST00000532971.1	37	c.545	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421884	0.62622	.	.	ENSG00000214756	ENST00000532971	.	.	.	4.36	4.36	0.52297	.	1.571860	0.04767	U	0.427422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.7796	9.9268	0.41496	0.203:0.797:0.0:0.0	.	.	.	.	X	182	.	ENSP00000431287:S182X	S	+	2	0	METTL12	62190921	0.000000	0.05858	0.940000	0.37924	0.337000	0.28794	0.058000	0.14301	2.429000	0.82318	0.555000	0.69702	TCA	METTL12	-	pfam_Methyltransf_11		0.562	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62434345	1	no_errors	ENST00000532971	ensembl	human	known	70_37	nonsense	SNP	0.598	G	G	62434345	C	G	62434345	4	3	160	1	0	0	0	0	0	1	0	0	9519	838	29	1	551	1	METTL12	11	62434345	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	319	62434345	72572171	1294	29567										
METTL12	751071	genome.wustl.edu	37	chr11	62434438	62434438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccctgcctggaacaagggtCctatggctggactgtgactg	14	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:62434438C>T	ENST00000532971.1	+	3	895	c.638C>T	c.(637-639)tCc>tTc	p.S213F	RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	213						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GAACAAGGGTCCTATGGCTGG	0.502																																																	0													74	73	73					11																	62434438		1915	4133	6048	SO:0001583	missense	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.638C>T	11.37:g.62434438C>T	ENSP00000431287:p.Ser213Phe		B7Z4C1	Missense_Mutation	SNP	pfam_Methyltransf_11	p.S213F	ENST00000532971.1	37	c.638	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	0.599	-0.829883	0.02734	.	.	ENSG00000214756	ENST00000532971	T	0.46063	0.88	4.65	2.72	0.32119	.	0.627698	0.12952	N	0.425758	T	0.23492	0.0568	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17018	-1.0383	10	0.54805	T	0.06	-5.3286	6.4657	0.21980	0.0:0.7172:0.1833:0.0995	.	213	A8MUP2	MTL12_HUMAN	F	213	ENSP00000431287:S213F	ENSP00000431287:S213F	S	+	2	0	METTL12	62191014	0.000000	0.05858	0.004000	0.12327	0.432000	0.31715	0.118000	0.15605	0.657000	0.30906	0.561000	0.74099	TCC	METTL12	-	NULL		0.502	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	C	NM_001043229		62434438	1	no_errors	ENST00000532971	ensembl	human	known	70_37	missense	SNP	0.007	T	T	62434438	C	T	62434438	3	4	160	1	0	0	0	0	1	0	0	0	9519	855	30	1	644	1	METTL12	11	62434438	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	93	62434438	72572078	1295	29568										
RTN3	10313	genome.wustl.edu	37	chr11	63487457	63487457	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggagaaatcacagaagctGatagttctggtgagtctgat	13	5	3	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:63487457G>C	ENST00000377819.5	+	3	1637	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H	RTN3_ENST00000339997.4_Missense_Mutation_p.D476H|RTN3_ENST00000540798.1_Missense_Mutation_p.D383H|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	495					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CACAGAAGCTGATAGTTCTGG	0.433																																																	0													59	61	60					11																	63487457		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1483G>C	11.37:g.63487457G>C	ENSP00000367050:p.Asp495His		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D495H	ENST00000377819.5	37	c.1483	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683230	0.68157	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.18174	2.23;2.23;2.23	6.07	6.07	0.98685	.	0.106709	0.41605	D	0.000843	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.00872	-1.1532	10	0.62326	D	0.03	-21.2984	16.1594	0.81686	0.0:0.0:1.0:0.0	.	383;495;476	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	H	495;476;383	ENSP00000367050:D495H;ENSP00000344106:D476H;ENSP00000442733:D383H	ENSP00000344106:D476H	D	+	1	0	RTN3	63244033	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.776000	0.68924	2.885000	0.99019	0.655000	0.94253	GAT	RTN3	-	NULL		0.433	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	G	NM_006054		63487457	1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63487457	G	C	63487457	3	2	160	1	0	0	0	0	1	0	0	0	13757	1290	45	1	1493	1	RTN3	11	63487457	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1053019	63487457	71519059	1296	29569										
TRPT1	83707	genome.wustl.edu	37	chr11	63992160	63992160	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggggcagggcctgcggtgtCtccaggggcatcagctccaa	17	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:63992160C>T	ENST00000317459.6	-	5	525	c.357G>A	c.(355-357)gaG>gaA	p.E119E	NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000541278.1_Silent_p.E119E|TRPT1_ENST00000394546.2_Silent_p.E121E|TRPT1_ENST00000546089.1_Silent_p.E70E|TRPT1_ENST00000394547.3_Silent_p.E70E|TRPT1_ENST00000540472.1_5'Flank|NUDT22_ENST00000441250.2_5'Flank			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	119					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CCTGCGGTGTCTCCAGGGGCA	0.607																																																	0													95	88	90					11																	63992160		2201	4297	6498	SO:0001819	synonymous_variant	83707				CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"tRNA splicing 2' phosphotransferase 1"	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.357G>A	11.37:g.63992160C>T			A8MU17|A8MYC9|F5H2B2|Q9BSB9	Silent	SNP	pfam_Ptrans_KptA/Tpt1	p.E121	ENST00000317459.6	37	c.363	CCDS31595.1	11																																																																																			TRPT1	-	pfam_Ptrans_KptA/Tpt1		0.607	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPT1	HGNC	protein_coding	OTTHUMT00000396579.1	C	NM_031472		63992160	-1	no_errors	ENST00000394546	ensembl	human	known	70_37	silent	SNP	0.993	T	T	63992160	C	T	63992160	2	4	160	1	0	0	0	0	0	0	0	1	16625	912	32	1		1	TRPT1	11	63992160	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	504703	63992160	71014356	1297	29570										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64594232	64594232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtggggccgctgtgggccgGagccgcgggcaactcggccc	19	14	0	0	rs565606476		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64594232G>A	ENST00000342711.5	-	35	4423	c.4424C>T	c.(4423-4425)tCc>tTc	p.S1475F		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTGTGGGCCGGAGCCGCGGGC	0.692																																																	0													9	13	12					11																	64594232		2160	4218	6378	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4424C>T	11.37:g.64594232G>A	ENSP00000345133:p.Ser1475Phe			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1475F	ENST00000342711.5	37	c.4424	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398742	0.42512	.	.	ENSG00000171219	ENST00000342711	T	0.69040	-0.37	4.93	2.94	0.34122	.	0.209164	0.25117	N	0.033008	T	0.54822	0.1882	L	0.60455	1.87	0.09310	N	1	P	0.44578	0.838	B	0.36030	0.216	T	0.55289	-0.8164	10	0.62326	D	0.03	.	6.4689	0.21997	0.0995:0.0:0.7207:0.1799	.	1475	Q6DT37	MRCKG_HUMAN	F	1475	ENSP00000345133:S1475F	ENSP00000345133:S1475F	S	-	2	0	CDC42BPG	64350808	0.998000	0.40836	0.471000	0.27229	0.111000	0.19643	3.375000	0.52410	1.217000	0.43442	0.591000	0.81541	TCC	CDC42BPG	-	NULL		0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64594232	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	0.128	A	A	64594232	G	A	64594232	3	1	160	1	0	0	0	0	1	0	0	0	3079	1174	41	1	243	1	CDC42BPG	11	64594232	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	602072	64594232	70412284	1298	29571										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64594598	64594598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttgaagttggtaggcggcGagatgagcttggagcgcaca	18	6	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64594598G>A	ENST00000342711.5	-	34	4312	c.4313C>T	c.(4312-4314)tCg>tTg	p.S1438L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GGTAGGCGGCGAGATGAGCTT	0.627																																																	0													134	115	121					11																	64594598		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4313C>T	11.37:g.64594598G>A	ENSP00000345133:p.Ser1438Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1438L	ENST00000342711.5	37	c.4313	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.088365	0.94100	.	.	ENSG00000171219	ENST00000342711	D	0.84370	-1.84	4.72	4.72	0.59763	PAK-box/P21-Rho-binding (1);	0.000000	0.35349	N	0.003277	D	0.92522	0.7625	M	0.83603	2.65	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.93644	0.6967	10	0.87932	D	0	.	15.5853	0.76475	0.0:0.0:1.0:0.0	.	1438	Q6DT37	MRCKG_HUMAN	L	1438	ENSP00000345133:S1438L	ENSP00000345133:S1438L	S	-	2	0	CDC42BPG	64351174	1.000000	0.71417	0.984000	0.44739	0.847000	0.48162	9.244000	0.95423	2.352000	0.79861	0.561000	0.74099	TCG	CDC42BPG	-	pfscan_PAK_box_Rho-bd		0.627	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64594598	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64594598	G	A	64594598	3	1	160	1	0	0	0	0	1	0	0	0	3079	1059	37	1	358	1	CDC42BPG	11	64594598	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	366	64594598	70411918	1299	29572										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64594862	64594862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggtccgggatgtcgaactCgtccttctctgtgggagaag	15	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64594862C>T	ENST00000342711.5	-	33	4158	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATGTCGAACTCGTCCTTCTCT	0.627																																																	0													105	116	112					11																	64594862		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4159G>A	11.37:g.64594862C>T	ENSP00000345133:p.Glu1387Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1387K	ENST00000342711.5	37	c.4159	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616251	0.87359	.	.	ENSG00000171219	ENST00000342711	T	0.68765	-0.35	4.82	4.82	0.62117	.	0.000000	0.44902	D	0.000402	T	0.71660	0.3366	M	0.76328	2.33	0.80722	D	1	D	0.63046	0.992	P	0.50490	0.642	T	0.73639	-0.3919	10	0.44086	T	0.13	.	11.6715	0.51403	0.0:0.8209:0.1791:0.0	.	1387	Q6DT37	MRCKG_HUMAN	K	1387	ENSP00000345133:E1387K	ENSP00000345133:E1387K	E	-	1	0	CDC42BPG	64351438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.144000	0.77357	2.409000	0.81822	0.561000	0.74099	GAG	CDC42BPG	-	NULL		0.627	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	C	XM_290516		64594862	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64594862	C	T	64594862	3	4	160	1	0	0	0	0	1	0	0	0	3079	893	31	1	516	1	CDC42BPG	11	64594862	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	264	64594862	70411654	1300	29573										
ATG2A	23130	genome.wustl.edu	37	chr11	64676516	64676516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagggcgagggctcaggttCccgcagctcacagggactct	15	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64676516C>T	ENST00000377264.3	-	16	2423	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E771K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	771					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTCAGGTTCCCGCAGCTCA	0.637																																																	0													76	49	58					11																	64676516		2199	4297	6496	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2311G>A	11.37:g.64676516C>T	ENSP00000366475:p.Glu771Lys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E771K	ENST00000377264.3	37	c.2311	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.808|7.808	0.715161|0.715161	0.15306|0.15306	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.47869|.	0.83;0.83|.	4.77|4.77	2.83|2.83	0.33086|0.33086	.|.	0.189094|.	0.45126|.	D|.	0.000395|.	T|T	0.29158|0.29158	0.0725|0.0725	N|N	0.14661|0.14661	0.345|0.345	0.25631|0.25631	N|N	0.986302|0.986302	B|.	0.20261|.	0.043|.	B|.	0.22601|.	0.04|.	T|T	0.19160|0.19160	-1.0314|-1.0314	10|5	0.02654|.	T|.	1|.	.|.	12.8378|12.8378	0.57784|0.57784	0.0:0.49:0.51:0.0|0.0:0.49:0.51:0.0	.|.	771|.	Q2TAZ0|.	ATG2A_HUMAN|.	K|E	771|572	ENSP00000410522:E771K;ENSP00000366475:E771K|.	ENSP00000366475:E771K|.	E|G	-|-	1|2	0|0	ATG2A|ATG2A	64433092|64433092	0.454000|0.454000	0.25728|0.25728	0.033000|0.033000	0.17914|0.17914	0.529000|0.529000	0.34654|0.34654	2.071000|2.071000	0.41500|0.41500	0.687000|0.687000	0.31509|0.31509	-0.175000|-0.175000	0.13238|0.13238	GAA|GGA	ATG2A	-	NULL		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	C	NM_015104		64676516	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	0.653	T	T	64676516	C	T	64676516	3	4	160	1	0	0	0	0	1	0	0	0	1094	864	30	1	3609	1	ATG2A	11	64676516	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	81654	64676516	70330000	1301	29574										
ATG2A	23130	genome.wustl.edu	37	chr11	64677261	64677261	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctccagccgaagctgctCagcccgcacggcctggcccg	12	19	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64677261C>T	ENST00000377264.3	-	14	2111	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E667K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	667					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGAAGCTGCTCAGCCCGCACG	0.701																																																	0													26	30	29					11																	64677261		2201	4295	6496	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1999G>A	11.37:g.64677261C>T	ENSP00000366475:p.Glu667Lys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E667K	ENST00000377264.3	37	c.1999	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.184751	0.94885	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.13538	2.58;2.58	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.55481	1.735	0.48288	D	0.99962	D	0.60575	0.988	P	0.52343	0.696	T	0.00692	-1.1607	10	0.72032	D	0.01	.	12.4406	0.55623	0.0:1.0:0.0:0.0	.	667	Q2TAZ0	ATG2A_HUMAN	K	667	ENSP00000410522:E667K;ENSP00000366475:E667K	ENSP00000366475:E667K	E	-	1	0	ATG2A	64433837	1.000000	0.71417	0.986000	0.45419	0.919000	0.55068	6.069000	0.71209	2.386000	0.81285	0.561000	0.74099	GAG	ATG2A	-	NULL		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	C	NM_015104		64677261	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64677261	C	T	64677261	3	4	160	1	0	0	0	0	1	0	0	0	1094	835	29	1	3929	1	ATG2A	11	64677261	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	745	64677261	70329255	1302	29575										
ATG2A	23130	genome.wustl.edu	37	chr11	64679412	64679412	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggagagctcagagagggctGaggccacactgcttgtgagg	18	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64679412G>T	ENST00000377264.3	-	9	1242	c.1130C>A	c.(1129-1131)tCa>tAa	p.S377*	ATG2A_ENST00000421419.2_Nonsense_Mutation_p.S377*	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	377					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGAGAGGGCTGAGGCCACACT	0.652																																																	0													64	56	59					11																	64679412		2201	4297	6498	SO:0001587	stop_gained	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1130C>A	11.37:g.64679412G>T	ENSP00000366475:p.Ser377*		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S377*	ENST00000377264.3	37	c.1130	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143127	0.77888	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	.	.	.	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9106	0.70755	0.0:0.0:1.0:0.0	.	.	.	.	X	377	.	ENSP00000227459:S377X	S	-	2	0	ATG2A	64435988	1.000000	0.71417	0.284000	0.24805	0.694000	0.40290	6.954000	0.76001	2.477000	0.83638	0.561000	0.74099	TCA	ATG2A	-	NULL		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	G	NM_015104		64679412	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	nonsense	SNP	0.963	T	T	64679412	G	T	64679412	4	4	160	1	0	0	0	0	0	1	0	0	1094	1294	45	3	4818	3	ATG2A	11	64679412	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2151	64679412	70327104	1303	29576										
CAPN1	823	genome.wustl.edu	37	chr11	64974261	64974261	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctctgcagggagctggatGaccagatccaggccaatctc	11	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:64974261G>A	ENST00000527323.1	+	13	1816	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	CAPN1_ENST00000279247.6_Missense_Mutation_p.D526N|CAPN1_ENST00000533129.1_Missense_Mutation_p.D526N|CAPN1_ENST00000524773.1_Missense_Mutation_p.D526N|CAPN1_ENST00000533820.1_Missense_Mutation_p.D526N			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	526	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGAGCTGGATGACCAGATCCA	0.667																																																	0													37	42	40					11																	64974261		1990	4151	6141	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1576G>A	11.37:g.64974261G>A	ENSP00000431984:p.Asp526Asn		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D526N	ENST00000527323.1	37	c.1576	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578379	0.65878	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.29	4.32	0.51571	Peptidase C2, calpain, large subunit, domain III (1);	0.589262	0.16576	N	0.208399	D	0.87188	0.6115	L	0.61218	1.895	0.50467	D	0.999878	P	0.41188	0.741	B	0.42522	0.39	D	0.83602	0.0129	10	0.19147	T	0.46	.	12.3969	0.55391	0.0:0.0:0.8311:0.1689	.	526	P07384	CAN1_HUMAN	N	526;526;526;526;472;526	ENSP00000435272:D526N;ENSP00000431686:D526N;ENSP00000434176:D526N;ENSP00000279247:D526N;ENSP00000431984:D526N	ENSP00000259755:D472N	D	+	1	0	CAPN1	64730837	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.454000	0.90352	2.458000	0.83093	0.563000	0.77884	GAC	CAPN1	-	superfamily_Calpain_domain_III		0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64974261	1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64974261	G	A	64974261	3	1	160	1	0	0	0	0	1	0	0	0	2627	1290	45	1	1626	1	CAPN1	11	64974261	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	294849	64974261	70032255	1304	29577										
SNX32	254122	genome.wustl.edu	37	chr11	65618550	65618550	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggatgacttctttgagcatGagaggaccttcctgttggag	13	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65618550G>C	ENST00000308342.6	+	7	1053	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	210					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CTTTGAGCATGAGAGGACCTT	0.612																																																	0													146	138	141					11																	65618550		2201	4297	6498	SO:0001583	missense	254122			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.628G>C	11.37:g.65618550G>C	ENSP00000310620:p.Glu210Gln		Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.E210Q	ENST00000308342.6	37	c.628	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956103	0.53293	.	.	ENSG00000172803	ENST00000308342	T	0.29917	1.55	4.22	1.31	0.21738	Vps5 C-terminal (1);	0.378221	0.22584	N	0.058171	T	0.37433	0.1003	M	0.73962	2.25	0.33913	D	0.639982	P	0.48089	0.905	P	0.48873	0.593	T	0.50389	-0.8834	10	0.45353	T	0.12	-21.3779	7.5847	0.27985	0.2938:0.0:0.7062:0.0	.	210	Q86XE0	SNX32_HUMAN	Q	210	ENSP00000310620:E210Q	ENSP00000310620:E210Q	E	+	1	0	SNX32	65375126	1.000000	0.71417	0.398000	0.26321	0.998000	0.95712	4.845000	0.62853	0.095000	0.17434	0.655000	0.94253	GAG	SNX32	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.612	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	G	NM_152760		65618550	1	no_errors	ENST00000308342	ensembl	human	known	70_37	missense	SNP	0.947	C	C	65618550	G	C	65618550	3	2	160	1	0	0	0	0	1	0	0	0	14932	1291	45	1	654	1	SNX32	11	65618550	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	644289	65618550	69387966	1305	29578										
TSGA10IP	254187	genome.wustl.edu	37	chr11	65715065	65715065	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaggccacagaggaggctGaggagggagagcacaggact	18	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65715065G>C	ENST00000532620.1	+	0	1000				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGAGGAGGCTGAGGAGGGAGA	0.622																																																	0													36	44	41					11																	65715065		2023	4178	6201			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715065G>C			Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	-	NULL	ENST00000532620.1	37	NULL		11																																																																																			TSGA10IP	-	-		0.622	TSGA10IP-001	KNOWN	basic	processed_transcript	TSGA10IP	HGNC	polymorphic_pseudogene	OTTHUMT00000391373.2	G	NM_152762		65715065	1	no_errors	ENST00000532620	ensembl	human	known	70_37	rna	SNP	0.920	C	C	65715065	G	C	65715065	1	2	160	0	1	0	0	0	0	0	0	0	16649	1291	45	1		1	TSGA10IP	11	65715065	RNA	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	96515	65715065	69291451	1306	29579										
SART1	9092	genome.wustl.edu	37	chr11	65733421	65733421	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgccattgattccttccgaGaaggggagacaatgattctt	10	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65733421G>A	ENST00000312397.5	+	7	894	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	268					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCCTTCCGAGAAGGGGAGAC	0.577																																																	0													99	88	92					11																	65733421		2201	4296	6497	SO:0001583	missense	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.802G>A	11.37:g.65733421G>A	ENSP00000310448:p.Glu268Lys		A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.E268K	ENST00000312397.5	37	c.802	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647438	0.87958	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.26957	1.7	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.994	T	0.59685	-0.7408	10	0.87932	D	0	-24.9119	14.8838	0.70553	0.0:0.0:1.0:0.0	.	110;268	B4DMR4;O43290	.;SNUT1_HUMAN	K	268;110	ENSP00000310448:E268K	ENSP00000310448:E268K	E	+	1	0	SART1	65489997	1.000000	0.71417	0.826000	0.32828	0.651000	0.38670	8.436000	0.90300	2.384000	0.81235	0.313000	0.20887	GAA	SART1	-	pfam_SART_1		0.577	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	G			65733421	1	no_errors	ENST00000312397	ensembl	human	known	70_37	missense	SNP	0.997	A	A	65733421	G	A	65733421	3	1	160	1	0	0	0	0	1	0	0	0	13876	943	33	1	828	1	SART1	11	65733421	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18356	65733421	69273095	1307	29580										
SART1	9092	genome.wustl.edu	37	chr11	65735054	65735054	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaacatggacatcagtgatGagggtgagggcccggccagg	17	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:65735054G>C	ENST00000312397.5	+	11	1518	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	476					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATCAGTGATGAGGGTGAGGG	0.667																																																	0													21	22	21					11																	65735054		2200	4295	6495	SO:0001583	missense	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1426G>C	11.37:g.65735054G>C	ENSP00000310448:p.Glu476Gln		A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.E476Q	ENST00000312397.5	37	c.1426	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744074	0.49151	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.22336	1.96	5.26	4.35	0.52113	.	0.148369	0.41823	D	0.000820	T	0.21307	0.0513	L	0.60455	1.87	0.42835	D	0.994039	B	0.12630	0.006	B	0.19666	0.026	T	0.06373	-1.0830	10	0.87932	D	0	-33.6787	7.5131	0.27585	0.0898:0.1671:0.7431:0.0	.	476	O43290	SNUT1_HUMAN	Q	476;318	ENSP00000310448:E476Q	ENSP00000310448:E476Q	E	+	1	0	SART1	65491630	1.000000	0.71417	0.910000	0.35882	0.967000	0.64934	5.781000	0.68964	1.233000	0.43693	0.491000	0.48974	GAG	SART1	-	pfam_SART_1		0.667	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	G			65735054	1	no_errors	ENST00000312397	ensembl	human	known	70_37	missense	SNP	0.989	C	C	65735054	G	C	65735054	3	2	160	1	0	0	0	0	1	0	0	0	13876	1291	45	1	1468	1	SART1	11	65735054	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1633	65735054	69271462	1308	29581										
KLC2	64837	genome.wustl.edu	37	chr11	66033433	66033433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggctgggggtgccgggcctCggtctgagtctgacctcgag	18	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:66033433C>T	ENST00000417856.1	+	13	1795	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	KLC2_ENST00000394065.2_Missense_Mutation_p.R379W|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000421552.1_Missense_Mutation_p.R441W|KLC2_ENST00000316924.5_Missense_Mutation_p.R518W|RAB1B_ENST00000311481.6_5'Flank|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.R518W|KLC2_ENST00000394066.2_Missense_Mutation_p.R441W	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	518					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGCCGGGCCTCGGTCTGAGTC	0.687																																																	0													37	43	41					11																	66033433		2199	4292	6491	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1552C>T	11.37:g.66033433C>T	ENSP00000399403:p.Arg518Trp		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R518W	ENST00000417856.1	37	c.1552	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387188	0.42308	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.84146	-1.17;-1.17;-1.17;-1.17;-1.17;-1.81	3.71	3.71	0.42584	.	0.574882	0.15913	N	0.238511	T	0.75019	0.3793	N	0.08118	0	0.39239	D	0.963822	B;B;P	0.52463	0.004;0.006;0.953	B;B;P	0.44860	0.002;0.001;0.462	T	0.81019	-0.1122	10	0.66056	D	0.02	-17.0649	14.3923	0.66989	0.0:1.0:0.0:0.0	.	379;441;518	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	W	518;518;518;441;441;379	ENSP00000399403:R518W;ENSP00000377631:R518W;ENSP00000314837:R518W;ENSP00000408484:R441W;ENSP00000377630:R441W;ENSP00000377629:R379W	ENSP00000314837:R518W	R	+	1	2	KLC2	65790009	0.633000	0.27181	0.998000	0.56505	0.361000	0.29550	1.653000	0.37323	1.901000	0.55032	0.491000	0.48974	CGG	KLC2	-	NULL		0.687	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	C	NM_022822		66033433	1	no_errors	ENST00000316924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66033433	C	T	66033433	3	4	160	1	0	0	0	0	1	0	0	0	8354	875	31	1	1598	1	KLC2	11	66033433	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	298379	66033433	68973083	1309	29582										
BBS1	582	genome.wustl.edu	37	chr11	66283047	66283047	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaccctgaaggagatgctgGagagcatccggtgagaggct	15	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:66283047G>C	ENST00000318312.7	+	5	520	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	BBS1_ENST00000529766.1_3'UTR|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.E194Q|BBS1_ENST00000393994.2_Missense_Mutation_p.E157Q|BBS1_ENST00000455748.2_Intron|BBS1_ENST00000537537.1_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	157					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GGAGATGCTGGAGAGCATCCG	0.582									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													114	102	106					11																	66283047		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.469G>C	11.37:g.66283047G>C	ENSP00000317469:p.Glu157Gln		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E194Q	ENST00000318312.7	37	c.580	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641426	0.87859	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000525809;ENST00000393994;ENST00000524705	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.25	5.25	0.73442	.	.	.	.	.	D	0.94331	0.8178	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.989	D;P;P	0.85130	0.997;0.827;0.827	D	0.93280	0.6659	9	0.34782	T	0.22	.	16.4108	0.83712	0.0:0.0:1.0:0.0	.	157;157;194	Q32MM9;Q8NFJ9;Q8NFJ9-2	.;BBS1_HUMAN;.	Q	194;157;66;157;64	ENSP00000398526:E194Q;ENSP00000317469:E157Q;ENSP00000431187:E66Q;ENSP00000377563:E157Q;ENSP00000436927:E64Q	ENSP00000317469:E157Q	E	+	1	0	BBS1;CTD-3074O7.11	66039623	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.115000	0.89572	2.452000	0.82932	0.558000	0.71614	GAG	BBS1	-	NULL		0.582	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	G			66283047	1	no_errors	ENST00000419755	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66283047	G	C	66283047	3	2	160	1	0	0	0	0	1	0	0	0	1336	1175	41	1	487	1	BBS1	11	66283047	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	249614	66283047	68723469	1310	29583										
SYT12	91683	genome.wustl.edu	37	chr11	66807534	66807534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccaggtggaggtgagcatgGagtacgacactgcctcccac	14	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:66807534G>C	ENST00000393946.2	+	7	1643	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	SYT12_ENST00000525457.1_Missense_Mutation_p.E161Q|SYT12_ENST00000527043.1_Missense_Mutation_p.E161Q|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	161						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGTGAGCATGGAGTACGACAC	0.632																																					Ovarian(65;2862 3307)												0													74	68	70					11																	66807534		2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.481G>C	11.37:g.66807534G>C	ENSP00000377520:p.Glu161Gln			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E161Q	ENST00000393946.2	37	c.481	CCDS8154.1	11	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524891	0.27299	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.72282	-0.64;-0.64;-0.64	5.63	2.55	0.30701	C2 calcium/lipid-binding domain, CaLB (1);	0.319686	0.33199	N	0.005171	T	0.51719	0.1691	N	0.24115	0.695	0.40808	D	0.983394	B	0.10296	0.003	B	0.10450	0.005	T	0.43734	-0.9373	10	0.19590	T	0.45	.	9.8078	0.40803	0.0779:0.2665:0.6556:0.0	.	161	Q8IV01	SYT12_HUMAN	Q	161	ENSP00000377520:E161Q;ENSP00000431400:E161Q;ENSP00000435316:E161Q	ENSP00000377520:E161Q	E	+	1	0	SYT12	66564110	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.776000	0.62354	1.358000	0.45922	0.462000	0.41574	GAG	SYT12	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT12	HGNC	protein_coding	OTTHUMT00000393129.1	G	NM_177963		66807534	1	no_errors	ENST00000393946	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66807534	G	C	66807534	3	2	160	1	0	0	0	0	1	0	0	0	15498	1175	41	1	491	1	SYT12	11	66807534	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	524487	66807534	68198982	1311	29584										
ADRBK1	156	genome.wustl.edu	37	chr11	67049187	67049187	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaagctcagcttcatcctgGacctcatgaacggtgagtgc	10	12	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:67049187G>C	ENST00000308595.5	+	10	1104	c.814G>C	c.(814-816)Gac>Cac	p.D272H	ADRBK1_ENST00000526285.1_Missense_Mutation_p.D272H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTCATCCTGGACCTCATGAA	0.652																																																	0													87	78	81					11																	67049187		2200	4295	6495	SO:0001583	missense	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.814G>C	11.37:g.67049187G>C	ENSP00000312262:p.Asp272His		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.D272H	ENST00000308595.5	37	c.814	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025266	0.54683	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.27402	1.67;1.67	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000017	T	0.62146	0.2404	M	0.84511	2.7	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69202	-0.5207	10	0.87932	D	0	-6.1183	18.674	0.91523	0.0:0.0:1.0:0.0	.	272;272	P25098;E9PRV7	ARBK1_HUMAN;.	H	272	ENSP00000312262:D272H;ENSP00000434126:D272H	ENSP00000312262:D272H	D	+	1	0	ADRBK1	66805763	1.000000	0.71417	0.604000	0.28916	0.035000	0.12851	8.894000	0.92506	2.493000	0.84123	0.591000	0.81541	GAC	ADRBK1	-	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		0.652	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67049187	1	no_errors	ENST00000308595	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67049187	G	C	67049187	3	2	160	1	0	0	0	0	1	0	0	0	343	1174	41	1	852	1	ADRBK1	11	67049187	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	241653	67049187	67957329	1312	29585										
NADSYN1	55191	genome.wustl.edu	37	chr11	71212397	71212397	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtccctggacggcgtggactGaggccggttccttcctggag	16	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:71212397G>C	ENST00000319023.2	+	21	2308	c.2120G>C	c.(2119-2121)tGa>tCa	p.*707S	NADSYN1_ENST00000539574.1_Nonstop_Mutation_p.*447S|NADSYN1_ENST00000530055.1_Nonstop_Mutation_p.*336S	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	0					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GGCGTGGACTGAGGCCGGTTC	0.637																																					Ovarian(79;763 1781 6490 50276)												0													44	35	38					11																	71212397		2200	4293	6493	SO:0001578	stop_lost	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.2120G>C	11.37:g.71212397G>C	ENSP00000326424:p.*707Serext*26		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonstop_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.*707S	ENST00000319023.2	37	c.2120	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	g	6.231	0.410677	0.11812	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	.	.	.	2.6	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8444	0.35162	0.0:0.0:1.0:0.0	.	.	.	.	S	707;447;336	.	.	X	+	2	2	NADSYN1	70890045	0.542000	0.26426	0.659000	0.29680	0.031000	0.12232	0.925000	0.28791	1.776000	0.52262	0.467000	0.42956	TGA	NADSYN1	-	NULL		0.637	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	G	NM_018161		71212397	1	no_errors	ENST00000319023	ensembl	human	known	70_37	nonstop	SNP	0.702	C	C	71212397	G	C	71212397	4	2	160	1	0	0	0	0	0	0	0	0	10161	1285	45	1	2202	1	NADSYN1	11	71212397	Nonstop_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4163210	71212397	63794119	1313	29586										
ARHGEF17	9828	genome.wustl.edu	37	chr11	73020642	73020642	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaatctaagcagcatgaactCagcaggggtttctgggagcc	12	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:73020642C>T	ENST00000263674.3	+	1	1309	c.959C>T	c.(958-960)tCa>tTa	p.S320L	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	320					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCATGAACTCAGCAGGGGTT	0.617																																																	0													52	65	60					11																	73020642		2193	4287	6480	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.959C>T	11.37:g.73020642C>T	ENSP00000263674:p.Ser320Leu		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.S320L	ENST00000263674.3	37	c.959	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	5.055	0.195742	0.09599	.	.	ENSG00000110237	ENST00000263674	T	0.59364	0.27	4.72	2.85	0.33270	.	0.520434	0.14530	N	0.313922	T	0.39572	0.1083	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.45353	T	0.12	-2.2661	4.5393	0.12049	0.1736:0.6395:0.0:0.1869	.	320	Q96PE2	ARHGH_HUMAN	L	320	ENSP00000263674:S320L	ENSP00000263674:S320L	S	+	2	0	ARHGEF17	72698290	0.317000	0.24589	0.233000	0.24025	0.145000	0.21501	0.735000	0.26115	0.434000	0.26340	0.313000	0.20887	TCA	ARHGEF17	-	NULL		0.617	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	C	NM_014786		73020642	1	no_errors	ENST00000263674	ensembl	human	known	70_37	missense	SNP	0.015	T	T	73020642	C	T	73020642	3	4	160	1	0	0	0	0	1	0	0	0	900	838	29	1	961	1	ARHGEF17	11	73020642	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1808245	73020642	61985874	1314	29587										
C2CD3	26005	genome.wustl.edu	37	chr11	73814626	73814626	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgccacttaacttagtattGataccagtgaaatctttgtt	6	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:73814626G>C	ENST00000334126.7	-	14	2356	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	C2CD3_ENST00000313663.7_Missense_Mutation_p.I710M			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	710					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTTAGTATTGATACCAGTGA	0.373																																																	0													119	119	119					11																	73814626		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2130C>G	11.37:g.73814626G>C	ENSP00000334379:p.Ile710Met		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.I710M	ENST00000334126.7	37	c.2130		11	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547639	0.13312	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10099	2.91;2.91	5.82	-0.25	0.13007	.	0.923564	0.09341	N	0.815430	T	0.08313	0.0207	L	0.40543	1.245	0.09310	N	1	B	0.32526	0.374	B	0.31547	0.132	T	0.35525	-0.9785	10	0.62326	D	0.03	-0.3769	3.4417	0.07466	0.226:0.1078:0.543:0.1232	.	710	Q4AC94-1	.	M	710	ENSP00000334379:I710M;ENSP00000323339:I710M	ENSP00000323339:I710M	I	-	3	3	C2CD3	73492274	0.000000	0.05858	0.015000	0.15790	0.086000	0.17979	0.105000	0.15333	0.053000	0.16036	-0.345000	0.07892	ATC	C2CD3	-	NULL		0.373	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73814626	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.000	C	C	73814626	G	C	73814626	3	2	160	1	0	0	0	0	1	0	0	0	2159	1280	45	1	3833	1	C2CD3	11	73814626	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	793984	73814626	61191890	1315	29588										
MOGAT2	80168	genome.wustl.edu	37	chr11	75439952	75439952	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcagaagatcatgggcatCtccctcccactctttcatgg	8	13	4	2	rs562033079		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:75439952C>G	ENST00000198801.5	+	5	838	c.768C>G	c.(766-768)atC>atG	p.I256M	MOGAT2_ENST00000526712.1_Missense_Mutation_p.I174M	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	256					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCATGGGCATCTCCCTCCCAC	0.527																																																	0													176	150	159					11																	75439952		2200	4293	6493	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.768C>G	11.37:g.75439952C>G	ENSP00000198801:p.Ile256Met		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	pfam_DAGAT	p.I256M	ENST00000198801.5	37	c.768	CCDS8240.1	11	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636180	0.47049	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.15952	2.38;2.38	6.03	1.07	0.20283	.	0.510473	0.23549	N	0.046989	T	0.35770	0.0943	M	0.87328	2.875	0.43708	D	0.996174	P	0.41498	0.752	P	0.55345	0.774	T	0.05989	-1.0852	10	0.72032	D	0.01	-10.707	5.9757	0.19377	0.0:0.5374:0.1208:0.3418	.	256	Q3SYC2	MOGT2_HUMAN	M	256;174	ENSP00000198801:I256M;ENSP00000436283:I174M	ENSP00000198801:I256M	I	+	3	3	MOGAT2	75117600	1.000000	0.71417	0.063000	0.19743	0.972000	0.66771	1.054000	0.30455	-0.041000	0.13558	-0.140000	0.14226	ATC	MOGAT2	-	pfam_DAGAT		0.527	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT2	HGNC	protein_coding	OTTHUMT00000383520.1	C	NM_025098		75439952	1	no_errors	ENST00000198801	ensembl	human	known	70_37	missense	SNP	0.965	G	G	75439952	C	G	75439952	3	3	160	1	0	0	0	0	1	0	0	0	9718	903	32	1	786	1	MOGAT2	11	75439952	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1625326	75439952	59566564	1316	29589										
LRRC32	2615	genome.wustl.edu	37	chr11	76371754	76371754	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcagggctgaccagccctCggaaggtgcgtggatgccct	17	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:76371754C>G	ENST00000407242.2	-	3	1125	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.E295Q|LRRC32_ENST00000260061.5_Missense_Mutation_p.E295Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	295					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GACCAGCCCTCGGAAGGTGCG	0.627																																																	0													31	32	31					11																	76371754		2200	4292	6492	SO:0001583	missense	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.883G>C	11.37:g.76371754C>G	ENSP00000384126:p.Glu295Gln		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.E295Q	ENST00000407242.2	37	c.883	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782744	0.16189	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.36340	1.26;1.26;1.26	4.55	2.47	0.30058	.	0.734743	0.13404	N	0.390378	T	0.19046	0.0457	N	0.19112	0.55	0.32513	N	0.537292	B	0.22683	0.073	B	0.18561	0.022	T	0.18871	-1.0323	10	0.26408	T	0.33	.	3.6993	0.08376	0.0:0.5704:0.2642:0.1654	.	295	Q14392	LRC32_HUMAN	Q	295	ENSP00000260061:E295Q;ENSP00000384126:E295Q;ENSP00000385766:E295Q	ENSP00000260061:E295Q	E	-	1	0	LRRC32	76049402	0.992000	0.36948	0.329000	0.25429	0.108000	0.19459	0.878000	0.28126	1.114000	0.41781	0.555000	0.69702	GAG	LRRC32	-	NULL		0.627	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	C	NM_005512		76371754	-1	no_errors	ENST00000260061	ensembl	human	known	70_37	missense	SNP	0.707	G	G	76371754	C	G	76371754	3	3	160	1	0	0	0	0	1	0	0	0	9010	893	31	1	1109	1	LRRC32	11	76371754	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	931802	76371754	58634762	1317	29590										
ODZ4	26011	genome.wustl.edu	37	chr11	78387290	78387290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggccgttgtcgatgggcagCgtgacattcctcttgcccac	12	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:78387290C>T	ENST00000278550.7	-	30	5865	c.5403G>A	c.(5401-5403)acG>acA	p.T1801T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1801					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGATGGGCAGCGTGACATTCC	0.677																																																	0													24	30	28					11																	78387290		2138	4234	6372	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5403G>A	11.37:g.78387290C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T1801	ENST00000278550.7	37	c.5403	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.677	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78387290	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	0.494	T	T	78387290	C	T	78387290	2	4	160	1	0	0	0	0	0	0	0	1	10861	755	27	2		2	ODZ4	11	78387290	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2015536	78387290	56619226	1318	29591										
PCF11	51585	genome.wustl.edu	37	chr11	82879498	82879498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagagcagagatctccattCaatgatcgttttccacttaa	7	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:82879498C>T	ENST00000298281.4	+	8	2573	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	707	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATCTCCATTCAATGATCGTT	0.353																																																	0													49	47	48					11																	82879498		1857	4092	5949	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2121C>T	11.37:g.82879498C>T			A6H8W7|O43671|Q6P0X8	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.F707	ENST00000298281.4	37	c.2121	CCDS44689.1	11																																																																																			PCF11	-	NULL		0.353	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	C	NM_015885		82879498	1	no_errors	ENST00000298281	ensembl	human	known	70_37	silent	SNP	1.000	T	T	82879498	C	T	82879498	2	4	160	1	0	0	0	0	0	0	0	1	11597	825	29	1		1	PCF11	11	82879498	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4492208	82879498	52127018	1319	29592										
GRM5	2915	genome.wustl.edu	37	chr11	88300278	88300278	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttgactaggctgctggatCtgctggctgcggaggatgac	17	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:88300278C>G	ENST00000305447.4	-	7	2722	c.2573G>C	c.(2572-2574)aGa>aCa	p.R858T	GRM5_ENST00000305432.5_Missense_Mutation_p.R858T|GRM5_ENST00000455756.2_Missense_Mutation_p.R858T|GRM5_ENST00000418177.2_Missense_Mutation_p.R858T|GRM5_ENST00000393297.1_Missense_Mutation_p.R858T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	858					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCTGCTGGATCTGCTGGCTGC	0.562																																																	0													82	73	76					11																	88300278		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2573G>C	11.37:g.88300278C>G	ENSP00000306138:p.Arg858Thr		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.R858T	ENST00000305447.4	37	c.2573	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236333	0.58886	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88896	-2.36;-2.43;-2.43;-2.36;-2.44	5.71	5.71	0.89125	.	0.047569	0.85682	D	0.000000	D	0.90494	0.7022	M	0.62723	1.935	0.43203	D	0.995054	P;P	0.46142	0.873;0.483	P;B	0.47346	0.544;0.084	D	0.89287	0.3616	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	858;858	P41594-2;P41594	.;GRM5_HUMAN	T	858	ENSP00000402912:R858T;ENSP00000405690:R858T;ENSP00000305905:R858T;ENSP00000306138:R858T;ENSP00000376975:R858T	.	R	-	2	0	GRM5	87939926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.934000	0.63491	2.709000	0.92574	0.655000	0.94253	AGA	GRM5	-	prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1		0.562	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	C	NM_000842		88300278	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88300278	C	G	88300278	3	3	160	1	0	0	0	0	1	0	0	0	6820	913	32	1	1077	1	GRM5	11	88300278	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5420780	88300278	46706238	1320	29593										
KDM4D	55693	genome.wustl.edu	37	chr11	94730884	94730884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatcagactccaccacaccaGaatttcgaagatttggagcg	8	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94730884G>C	ENST00000335080.5	+	3	1180	c.348G>C	c.(346-348)caG>caC	p.Q116H	KDM4D_ENST00000536741.1_Missense_Mutation_p.Q116H	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	116					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACCACACCAGAATTTCGAAG	0.408																																																	0													85	85	85					11																	94730884		2201	4298	6499	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.348G>C	11.37:g.94730884G>C	ENSP00000334181:p.Gln116His		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.Q116H	ENST00000335080.5	37	c.348	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	5.432	0.264776	0.10294	.	.	ENSG00000186280	ENST00000335080	T	0.42131	0.98	4.44	-1.34	0.09143	.	0.579030	0.15447	U	0.261869	T	0.26846	0.0657	L	0.46157	1.445	0.09310	N	1	P	0.38922	0.651	B	0.28991	0.097	T	0.12451	-1.0547	10	0.27082	T	0.32	-1.3432	9.8445	0.41019	0.0867:0.5643:0.349:0.0	.	116	Q6B0I6	KDM4D_HUMAN	H	116	ENSP00000334181:Q116H	ENSP00000334181:Q116H	Q	+	3	2	KDM4D	94370532	0.012000	0.17670	0.000000	0.03702	0.031000	0.12232	0.867000	0.27968	-0.326000	0.08564	-0.502000	0.04539	CAG	KDM4D	-	NULL		0.408	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	G	NM_018039		94730884	1	no_errors	ENST00000335080	ensembl	human	known	70_37	missense	SNP	0.000	C	C	94730884	G	C	94730884	3	2	160	1	0	0	0	0	1	0	0	0	8151	933	33	1	350	1	KDM4D	11	94730884	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6430606	94730884	40275632	1321	29594										
KDM4D	55693	genome.wustl.edu	37	chr11	94731840	94731840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccagctcaactccatcatCcacccctggtccatctgcac	5	20	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94731840C>T	ENST00000335080.5	+	3	2136	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	KDM4D_ENST00000536741.1_Missense_Mutation_p.S435F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	435					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTCCATCATCCACCCCTGGT	0.592																																																	0													73	73	73					11																	94731840		2201	4298	6499	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1304C>T	11.37:g.94731840C>T	ENSP00000334181:p.Ser435Phe		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S435F	ENST00000335080.5	37	c.1304	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062922	0.19987	.	.	ENSG00000186280	ENST00000335080	T	0.28895	1.59	3.77	-1.61	0.08399	.	8.952840	0.01111	U	0.005565	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.21827	-1.0234	10	0.59425	D	0.04	0.4183	2.832	0.05503	0.3524:0.3378:0.0:0.3098	.	435	Q6B0I6	KDM4D_HUMAN	F	435	ENSP00000334181:S435F	ENSP00000334181:S435F	S	+	2	0	KDM4D	94371488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.320000	0.02700	-0.306000	0.08818	-0.136000	0.14681	TCC	KDM4D	-	NULL		0.592	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	C	NM_018039		94731840	1	no_errors	ENST00000335080	ensembl	human	known	70_37	missense	SNP	0.000	T	T	94731840	C	T	94731840	3	4	160	1	0	0	0	0	1	0	0	0	8151	855	30	1	1306	1	KDM4D	11	94731840	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	956	94731840	40274676	1322	29595										
KDM4DL	390245	genome.wustl.edu	37	chr11	94760060	94760060	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcgtggtcgtggtcaaggtCaaggtcgaggttgcagtcgt	17	7	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94760060C>G	ENST00000450979.2	+	1	1639	c.1339C>G	c.(1339-1341)Caa>Gaa	p.Q447E		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	447					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						tggtcaaggtcaaggtcgagg	0.572																																																	0													86	77	80					11																	94760060		692	1591	2283	SO:0001583	missense	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.1339C>G	11.37:g.94760060C>G	ENSP00000397239:p.Gln447Glu			Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.Q447E	ENST00000450979.2	37	c.1339	CCDS44713.1	11	.	.	.	.	.	.	.	.	.	.	c	2.285	-0.363910	0.05103	.	.	ENSG00000235268	ENST00000450979	T	0.26957	1.7	0.617	0.617	0.17619	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	8	0.02654	T	1	.	.	.	.	.	447	B2RXH2	KD4DL_HUMAN	E	447	ENSP00000397239:Q447E	ENSP00000397239:Q447E	Q	+	1	0	KDM4DL	94399708	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.121000	0.10643	0.593000	0.29745	0.393000	0.25936	CAA	KDM4E	-	NULL		0.572	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	C	NM_001161630		94760060	1	no_errors	ENST00000450979	ensembl	human	known	70_37	missense	SNP	0.000	G	G	94760060	C	G	94760060	3	3	160	1	0	0	0	0	1	0	0	0	8152	827	29	1	1341	1	KDM4DL	11	94760060	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	28220	94760060	40246456	1323	29596										
SESN3	143686	genome.wustl.edu	37	chr11	94908718	94908718	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atacatgcgttttgtagttcTctcaggatagcaggtcactg	10	8	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:94908718T>A	ENST00000536441.1	-	9	1672	c.1336A>T	c.(1336-1338)Aga>Tga	p.R446*	SESN3_ENST00000278499.2_Nonsense_Mutation_p.R307*|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	446					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTTGTAGTTCTCTCAGGATAG	0.368																																																	0													170	159	163					11																	94908718		2201	4298	6499	SO:0001587	stop_gained	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1336A>T	11.37:g.94908718T>A	ENSP00000441927:p.Arg446*		B7Z7P9|Q96AD1	Nonsense_Mutation	SNP	pfam_PA26	p.R446*	ENST00000536441.1	37	c.1336	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	T	39	7.714421	0.98450	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	.	.	.	5.23	2.82	0.32997	.	0.055211	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.556	13.4742	0.61299	0.0:0.0:0.5234:0.4766	.	.	.	.	X	446;307	.	ENSP00000278499:R307X	R	-	1	2	SESN3	94548366	1.000000	0.71417	0.992000	0.48379	0.418000	0.31294	2.848000	0.48278	0.403000	0.25479	0.528000	0.53228	AGA	SESN3	-	pfam_PA26		0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	T	NM_144665		94908718	-1	no_errors	ENST00000536441	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	94908718	T	A	94908718	4	1	160	1	0	0	0	0	0	1	0	0	14156	1559	54	5	150	5	SESN3	11	94908718	Nonsense_Mutation	SNP	T	TCGA-JW-A5VL-01A-11D-A28B-09	148658	94908718	40097798	1324	29597										
MAML2	84441	genome.wustl.edu	37	chr11	95724713	95724713	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcatctgctgctggagaaGaagttgctgtttctgctcca	11	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:95724713G>A	ENST00000524717.1	-	3	3598	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	772					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGCTGGAGAAGAAGTTGCTGT	0.433			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													147	144	145					11																	95724713		1942	4145	6087	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2314C>T	11.37:g.95724713G>A	ENSP00000434552:p.Leu772Phe		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.L772F	ENST00000524717.1	37	c.2314	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078758	0.55753	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.42513	0.97;0.97	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000052	T	0.62913	0.2467	M	0.62723	1.935	0.46901	D	0.999244	D	0.71674	0.998	D	0.83275	0.996	T	0.58973	-0.7541	10	0.36615	T	0.2	-13.7804	18.2931	0.90137	0.0:0.0:1.0:0.0	.	772	Q8IZL2	MAML2_HUMAN	F	772	ENSP00000434552:L772F;ENSP00000412394:L772F	ENSP00000412394:L772F	L	-	1	0	MAML2	95364361	1.000000	0.71417	0.997000	0.53966	0.084000	0.17831	6.321000	0.72881	2.577000	0.86979	0.557000	0.71058	CTT	MAML2	-	NULL		0.433	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95724713	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95724713	G	A	95724713	3	1	160	1	0	0	0	0	1	0	0	0	9229	942	33	1	1168	1	MAML2	11	95724713	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	815995	95724713	39281803	1325	29598										
TRPC6	7225	genome.wustl.edu	37	chr11	101347230	101347230	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaatattccttggggccctGagtccagatttctttacatt	7	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:101347230G>A	ENST00000344327.3	-	6	1970	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	TRPC6_ENST00000348423.4_Nonsense_Mutation_p.Q400*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.Q461*|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	516					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGGGCCCTGAGTCCAGATT	0.388																																					Colon(166;1315 1927 11094 12848 34731)												0													70	67	68					11																	101347230		2203	4299	6502	SO:0001587	stop_gained	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1546C>T	11.37:g.101347230G>A	ENSP00000340913:p.Gln516*		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q516*	ENST00000344327.3	37	c.1546	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.254747	0.97417	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	.	.	.	5.97	5.06	0.68205	.	0.048359	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.8966	17.0781	0.86591	0.0:0.1337:0.8663:0.0	.	.	.	.	X	516;400;461	.	ENSP00000340913:Q516X	Q	-	1	0	TRPC6	100852440	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.757000	0.62213	1.516000	0.48900	0.643000	0.83706	CAG	TRPC6	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.388	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	G	NM_004621		101347230	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	101347230	G	A	101347230	4	1	160	1	0	0	0	0	0	1	0	0	16614	1299	45	1	1281	1	TRPC6	11	101347230	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5622517	101347230	33659286	1326	29599										
BIRC3	330	genome.wustl.edu	37	chr11	102195673	102195673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attcaaactctccatcaaatCctgtaaactccagagcaaat	3	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:102195673C>G	ENST00000263464.3	+	2	3183	c.433C>G	c.(433-435)Cct>Gct	p.P145A	BIRC3_ENST00000532808.1_Missense_Mutation_p.P145A	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	145					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCCATCAAATCCTGTAAACTC	0.383			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													134	142	139					11																	102195673		2203	4299	6502	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.433C>G	11.37:g.102195673C>G	ENSP00000263464:p.Pro145Ala		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.P145A	ENST00000263464.3	37	c.433	CCDS8315.1	11	.	.	.	.	.	.	.	.	.	.	C	6.276	0.418982	0.11870	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21361	2.01;2.01	5.4	5.4	0.78164	.	0.045277	0.85682	D	0.000000	T	0.29423	0.0733	M	0.61703	1.905	0.29813	N	0.831495	B	0.22080	0.064	B	0.27170	0.077	T	0.13388	-1.0511	10	0.52906	T	0.07	.	19.3682	0.94473	0.0:1.0:0.0:0.0	.	145	Q13489	BIRC3_HUMAN	A	145	ENSP00000263464:P145A;ENSP00000432907:P145A	ENSP00000263464:P145A	P	+	1	0	BIRC3	101700883	0.022000	0.18835	0.045000	0.18777	0.093000	0.18481	1.993000	0.40747	2.818000	0.97014	0.591000	0.81541	CCT	BIRC3	-	NULL		0.383	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	HGNC	protein_coding	OTTHUMT00000394159.1	C	NM_001165		102195673	1	no_errors	ENST00000263464	ensembl	human	known	70_37	missense	SNP	0.207	G	G	102195673	C	G	102195673	3	3	160	1	0	0	0	0	1	0	0	0	1437	855	30	1	435	1	BIRC3	11	102195673	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	848443	102195673	32810843	1327	29600										
MMP20	9313	genome.wustl.edu	37	chr11	102464305	102464305	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaccttgcatttggaatcctCttgttatccagtagtgggga	11	8	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:102464305C>G	ENST00000260228.2	-	8	1124	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	394					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTGGAATCCTCTTGTTATCCA	0.443																																																	0													88	82	84					11																	102464305		2203	4299	6502	SO:0001583	missense	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1112G>C	11.37:g.102464305C>G	ENSP00000260228:p.Arg371Thr		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R371T	ENST00000260228.2	37	c.1112	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889373	0.52014	.	.	ENSG00000137674	ENST00000260228	T	0.02345	4.33	5.06	5.06	0.68205	Hemopexin/matrixin (2);	0.188509	0.49916	D	0.000125	T	0.04907	0.0132	L	0.31120	0.905	0.46131	D	0.998886	B	0.33477	0.413	P	0.44921	0.464	T	0.47623	-0.9103	10	0.59425	D	0.04	.	11.4452	0.50118	0.0:0.9139:0.0:0.0861	.	371	O60882	MMP20_HUMAN	T	371	ENSP00000260228:R371T	ENSP00000260228:R371T	R	-	2	0	MMP20	101969515	0.990000	0.36364	0.998000	0.56505	0.875000	0.50365	1.106000	0.31098	2.630000	0.89119	0.650000	0.86243	AGA	MMP20	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.443	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	C			102464305	-1	no_errors	ENST00000260228	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102464305	C	G	102464305	3	3	160	1	0	0	0	0	1	0	0	0	9682	913	32	1	351	1	MMP20	11	102464305	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	268632	102464305	32542211	1328	29601										
DYNC2H1	79659	genome.wustl.edu	37	chr11	103043833	103043833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaagtaaattctaattctgGaatttttatcactatgaatc	5	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:103043833G>A	ENST00000375735.2	+	35	5501	c.5357G>A	c.(5356-5358)gGa>gAa	p.G1786E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1786E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1786	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTAATTCTGGAATTTTTATC	0.269																																																	0													16	15	15					11																	103043833		1734	3951	5685	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5357G>A	11.37:g.103043833G>A	ENSP00000364887:p.Gly1786Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G1786E	ENST00000375735.2	37	c.5357	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790827	0.90367	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.17213	2.29;2.29	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.62011	0.2393	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76591	-0.2903	9	0.87932	D	0	.	20.0752	0.97739	0.0:0.0:1.0:0.0	.	1786;1786	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	1786	ENSP00000364887:G1786E;ENSP00000381167:G1786E	ENSP00000364887:G1786E	G	+	2	0	DYNC2H1	102549043	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.952000	0.87827	2.826000	0.97356	0.491000	0.48974	GGA	DYNC2H1	-	smart_AAA+_ATPase		0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103043833	1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103043833	G	A	103043833	3	1	160	1	0	0	0	0	1	0	0	0	4856	1174	41	1	5495	1	DYNC2H1	11	103043833	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	579528	103043833	31962683	1329	29602										
GUCY1A2	2977	genome.wustl.edu	37	chr11	106681104	106681104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtctgagagatgtagccctCggcccatgagttcatccaac	10	12	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:106681104C>T	ENST00000526355.2	-	5	1775	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R457Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R436Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	436					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ATGTAGCCCTCGGCCCATGAG	0.463																																																	0													95	94	94					11																	106681104		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1307G>A	11.37:g.106681104C>T	ENSP00000431245:p.Arg436Gln		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R436Q	ENST00000526355.2	37	c.1307	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.139307	0.94560	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88586	-2.4;-2.4;-2.4	5.64	5.64	0.86602	Haem NO binding associated (1);	0.000000	0.38959	U	0.001502	D	0.93255	0.7851	L	0.58302	1.8	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.75020	0.985;0.843;0.928	D	0.92462	0.5978	10	0.44086	T	0.13	.	18.6821	0.91549	0.0:1.0:0.0:0.0	.	457;436;436	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Q	436;436;457	ENSP00000431245:R436Q;ENSP00000282249:R436Q;ENSP00000344874:R457Q	ENSP00000282249:R436Q	R	-	2	0	GUCY1A2	106186314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.644000	0.89710	0.650000	0.86243	CGA	GUCY1A2	-	pfam_Haem_no_assoc-bd		0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	C			106681104	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106681104	C	T	106681104	3	4	160	1	0	0	0	0	1	0	0	0	6913	884	31	1	907	1	GUCY1A2	11	106681104	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3637271	106681104	28325412	1330	29603										
ACAT1	38	genome.wustl.edu	37	chr11	108018080	108018080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccagtatttgcaatggagGaggaggtgcttctgccatgc	14	8	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:108018080G>A	ENST00000265838.4	+	12	1338	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	416					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGCAATGGAGGAGGAGGTGCT	0.453																																																	0													149	131	137					11																	108018080		2201	4298	6499	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1247G>A	11.37:g.108018080G>A	ENSP00000265838:p.Gly416Glu		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.G416E	ENST00000265838.4	37	c.1247	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.394676	0.96009	.	.	ENSG00000075239	ENST00000265838	D	0.96073	-3.9	5.87	5.87	0.94306	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.105320	0.64402	D	0.000004	D	0.98918	0.9633	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99038	1.0823	10	0.87932	D	0	-10.2222	20.2181	0.98305	0.0:0.0:1.0:0.0	.	416	P24752	THIL_HUMAN	E	416	ENSP00000265838:G416E	ENSP00000265838:G416E	G	+	2	0	ACAT1	107523290	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.509000	0.98002	2.785000	0.95823	0.655000	0.94253	GGA	ACAT1	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.453	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1	G	NM_000019		108018080	1	no_errors	ENST00000265838	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108018080	G	A	108018080	3	1	160	1	0	0	0	0	1	0	0	0	121	1174	41	1	1293	1	ACAT1	11	108018080	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1336976	108018080	26988436	1331	29604										
ATM	472	genome.wustl.edu	37	chr11	108129735	108129735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagtccaaataagattgcatCtggctttttcctgcgattgt	9	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:108129735C>T	ENST00000452508.2	+	17	2588	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	ATM_ENST00000278616.4_Missense_Mutation_p.S800F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	800					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGATTGCATCTGGCTTTTTC	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													129	123	125					11																	108129735		2200	4298	6498	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2399C>T	11.37:g.108129735C>T	ENSP00000388058:p.Ser800Phe		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S800F	ENST00000452508.2	37	c.2399	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704176	0.68615	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75154	-0.91;-0.91;-0.91	5.8	5.8	0.92144	Armadillo-type fold (1);	0.172575	0.53938	D	0.000058	D	0.83663	0.5303	M	0.67953	2.075	0.42414	D	0.99261	D	0.63880	0.993	P	0.57548	0.823	D	0.84739	0.0750	10	0.72032	D	0.01	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	800	Q13315	ATM_HUMAN	F	800	ENSP00000435747:S800F;ENSP00000278616:S800F;ENSP00000388058:S800F	ENSP00000278616:S800F	S	+	2	0	ATM	107634945	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	5.335000	0.65929	2.744000	0.94065	0.655000	0.94253	TCT	ATM	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108129735	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108129735	C	T	108129735	3	4	160	1	0	0	0	0	1	0	0	0	1110	913	32	1	2457	1	ATM	11	108129735	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	111655	108129735	26876781	1332	29605										
ZC3H12C	85463	genome.wustl.edu	37	chr11	110035239	110035239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccttgtagcaccaaggctGatagcacttctgatgtcaaa	8	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:110035239G>A	ENST00000278590.3	+	6	1480	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D446N|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D478N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	477							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACCAAGGCTGATAGCACTTC	0.478																																																	0													108	106	107					11																	110035239		1946	4139	6085	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1429G>A	11.37:g.110035239G>A	ENSP00000278590:p.Asp477Asn		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D477N	ENST00000278590.3	37	c.1429	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256001	0.80246	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.34472	1.37;1.36;1.38	5.85	5.85	0.93711	.	1.046730	0.07351	N	0.882344	T	0.47655	0.1457	L	0.56769	1.78	0.43238	D	0.995141	P;P;P	0.52842	0.956;0.956;0.956	B;B;B	0.44224	0.444;0.444;0.444	T	0.53627	-0.8412	10	0.52906	T	0.07	-25.1002	20.1775	0.98187	0.0:0.0:1.0:0.0	.	478;477;477	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	477;478;446	ENSP00000278590:D477N;ENSP00000431821:D478N;ENSP00000413094:D446N	ENSP00000278590:D477N	D	+	1	0	ZC3H12C	109540449	1.000000	0.71417	0.881000	0.34555	0.977000	0.68977	6.133000	0.71682	2.771000	0.95319	0.561000	0.74099	GAT	ZC3H12C	-	NULL		0.478	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110035239	1	no_errors	ENST00000278590	ensembl	human	known	70_37	missense	SNP	0.995	A	A	110035239	G	A	110035239	3	1	160	1	0	0	0	0	1	0	0	0	17593	1290	45	1	1451	1	ZC3H12C	11	110035239	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1905504	110035239	24971277	1333	29606										
C11orf57	55216	genome.wustl.edu	37	chr11	111953676	111953676	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctacagatgaaaggtctgctGagagctcagaggatgactaa	12	7	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:111953676G>C	ENST00000280352.9	+	6	1495	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000393047.3_Missense_Mutation_p.E288Q|C11orf57_ENST00000532163.1_Missense_Mutation_p.E259Q|C11orf57_ENST00000420986.2_Missense_Mutation_p.E287Q	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	287										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAGGTCTGCTGAGAGCTCAGA	0.413																																																	0													67	67	67					11																	111953676		2196	4296	6492	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.859G>C	11.37:g.111953676G>C	ENSP00000339076:p.Glu287Gln		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.E288Q	ENST00000280352.9	37	c.862	CCDS41715.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186255	0.78789	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000393048	.	.	.	5.3	5.3	0.74995	.	0.354060	0.24463	N	0.038313	T	0.62672	0.2447	L	0.27053	0.805	0.45366	D	0.998356	P;D	0.63880	0.949;0.993	P;P	0.57776	0.677;0.827	T	0.64833	-0.6314	9	0.56958	D	0.05	-5.9447	19.144	0.93457	0.0:0.0:1.0:0.0	.	288;287	Q6ZUT1-2;Q6ZUT1	.;CK057_HUMAN	Q	287;259;287;288;142	.	ENSP00000339076:E287Q	E	+	1	0	C11orf57	111458886	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.986000	0.76200	2.745000	0.94114	0.655000	0.94253	GAG	C11orf57	-	NULL		0.413	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	G	NM_018195		111953676	1	no_errors	ENST00000393047	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111953676	G	C	111953676	3	2	160	1	0	0	0	0	1	0	0	0	1654	1291	45	1	880	1	C11orf57	11	111953676	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1918437	111953676	23052840	1334	29607										
FXYD6	53826	genome.wustl.edu	37	chr11	117710540	117710540	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttctctgctttctggggctCtgttgctggaaagaaaacca	11	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:117710540C>G	ENST00000526014.1	-	7	860	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	RP11-728F11.4_ENST00000525260.1_RNA|FXYD6_ENST00000524656.1_Missense_Mutation_p.E89Q|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.Q76H|RP11-728F11.4_ENST00000534150.1_RNA|FXYD6_ENST00000540359.1_Missense_Mutation_p.E89Q|FXYD6_ENST00000260282.4_Missense_Mutation_p.E89Q|FXYD6_ENST00000527429.1_3'UTR|FXYD6_ENST00000584394.1_Missense_Mutation_p.R72T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000539526.1_Missense_Mutation_p.E89Q|FXYD6_ENST00000530956.1_Missense_Mutation_p.E89Q|FXYD6_ENST00000529335.2_Missense_Mutation_p.Q79H|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000527717.1_Missense_Mutation_p.E89Q	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6	89					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTCTGGGGCTCTGTTGCTGGA	0.567																																																	0													186	163	171					11																	117710540		2201	4296	6497	SO:0001583	missense	53826			BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"phosphohippolin"	606683	"FXYD domain-containing ion transport regulator 6"			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.265G>C	11.37:g.117710540C>G	ENSP00000433312:p.Glu89Gln		A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Missense_Mutation	SNP	pfam_Ion-transport_regulator_FXYD	p.E89Q	ENST00000526014.1	37	c.265	CCDS8387.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.167539|3.167539	0.57476|0.57476	.|.	.|.	ENSG00000137726|ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656|ENST00000529335	T;T;T;T;T;T|T	0.66815|0.64991	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23|-0.13	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|T	0.72653|0.72653	0.3487|0.3487	.|.	.|.	.|.	0.40385|0.40385	D|D	0.979489|0.979489	B|.	0.13594|.	0.008|.	B|.	0.08055|.	0.003|.	T|T	0.74833|0.74833	-0.3530|-0.3530	8|6	0.31617|0.52906	T|T	0.26|0.07	.|.	14.4832|14.4832	0.67597|0.67597	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89|.	Q9H0Q3|.	FXYD6_HUMAN|.	Q|H	89|79	ENSP00000444243:E89Q;ENSP00000442756:E89Q;ENSP00000260282:E89Q;ENSP00000431446:E89Q;ENSP00000433312:E89Q;ENSP00000431427:E89Q|ENSP00000436629:Q79H	ENSP00000260282:E89Q|ENSP00000436629:Q79H	E|Q	-|-	1|3	0|2	FXYD6|FXYD6	117215750|117215750	0.994000|0.994000	0.37717|0.37717	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	4.019000|4.019000	0.57181|0.57181	2.566000|2.566000	0.86566|0.86566	0.561000|0.561000	0.74099|0.74099	GAG|CAG	FXYD6	-	NULL		0.567	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FXYD6	HGNC	protein_coding	OTTHUMT00000392307.1	C	NM_022003		117710540	-1	no_errors	ENST00000260282	ensembl	human	known	70_37	missense	SNP	1.000	G	G	117710540	C	G	117710540	3	3	160	1	0	0	0	0	1	0	0	0	6140	922	32	1	26	1	FXYD6	11	117710540	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5756864	117710540	17295976	1335	29608										
MLL	4297	genome.wustl.edu	37	chr11	118370615	118370615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgtgaagataagctctttCctattggatatcagtaagta	8	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118370615C>T	ENST00000389506.5	+	24	6136	c.6136C>T	c.(6136-6138)Cct>Tct	p.P2046S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2008S|KMT2A_ENST00000534358.1_Missense_Mutation_p.P2049S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2046	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TAAGCTCTTTCCTATTGGATA	0.423																																																	0													103	98	99					11																	118370615		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6136C>T	11.37:g.118370615C>T	ENSP00000374157:p.Pro2046Ser		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P2046S	ENST00000389506.5	37	c.6136	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115466	0.77323	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.94537	-3.45;-3.45;-3.45	5.69	5.69	0.88448	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98503	1.0615	10	0.87932	D	0	.	19.812	0.96551	0.0:1.0:0.0:0.0	.	2049;2046	E9PQG7;Q03164	.;MLL1_HUMAN	S	2049;2046;2008;956	ENSP00000436786:P2049S;ENSP00000374157:P2046S;ENSP00000346516:P2008S	ENSP00000346516:P2008S	P	+	1	0	MLL	117875825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.740000	0.84986	2.685000	0.91497	0.655000	0.94253	CCT	MLL	-	pfam_FYrich_N,smart_FYrich_N,pirsf_MeTrfase_trithorax		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118370615	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118370615	C	T	118370615	3	4	160	1	0	0	0	0	1	0	0	0	9643	855	30	1	6230	1	MLL	11	118370615	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	660075	118370615	16635901	1336	29609										
MLL	4297	genome.wustl.edu	37	chr11	118375583	118375583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaactcctgaaggccacatGactcctgatcattttatcca	5	14	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118375583G>A	ENST00000389506.5	+	27	8967	c.8967G>A	c.(8965-8967)atG>atA	p.M2989I	KMT2A_ENST00000354520.4_Missense_Mutation_p.M2951I|KMT2A_ENST00000534358.1_Missense_Mutation_p.M2992I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2989					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAGGCCACATGACTCCTGATC	0.483																																																	0													90	78	82					11																	118375583		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8967G>A	11.37:g.118375583G>A	ENSP00000374157:p.Met2989Ile		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.M2989I	ENST00000389506.5	37	c.8967	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944846	0.18356	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81499	-1.5;-1.5;-1.46	6.17	6.17	0.99709	.	0.077532	0.85682	D	0.000000	T	0.71117	0.3302	L	0.36672	1.1	0.50632	D	0.999889	B;B	0.18863	0.031;0.031	B;B	0.10450	0.005;0.005	T	0.64351	-0.6428	10	0.34782	T	0.22	.	10.391	0.44168	0.0689:0.1354:0.7956:0.0	.	2992;2989	E9PQG7;Q03164	.;MLL1_HUMAN	I	2992;2989;2951;1899	ENSP00000436786:M2992I;ENSP00000374157:M2989I;ENSP00000346516:M2951I	ENSP00000346516:M2951I	M	+	3	0	MLL	117880793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.184000	0.50926	2.941000	0.99782	0.655000	0.94253	ATG	MLL	-	pirsf_MeTrfase_trithorax		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118375583	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118375583	G	A	118375583	3	1	160	1	0	0	0	0	1	0	0	0	9643	1290	45	1	9073	1	MLL	11	118375583	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4968	118375583	16630933	1337	29610										
HYOU1	10525	genome.wustl.edu	37	chr11	118918983	118918983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtggtggctccaacaccctCatcctccagccaggtggatg	11	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118918983C>T	ENST00000404233.3	-	20	2477	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	HYOU1_ENST00000529972.1_Missense_Mutation_p.E723K|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Missense_Mutation_p.E723K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	785					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCAACACCCTCATCCTCCAGC	0.612																																																	0													82	81	81					11																	118918983		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2353G>A	11.37:g.118918983C>T	ENSP00000384144:p.Glu785Lys		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E785K	ENST00000404233.3	37	c.2353	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.534057	0.96460	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.14391	2.51;2.51;2.51	5.54	5.54	0.83059	.	0.111023	0.64402	D	0.000009	T	0.34513	0.0900	M	0.82823	2.61	0.80722	D	1	P;B;P;P	0.44429	0.739;0.183;0.835;0.835	B;B;P;P	0.50378	0.403;0.089;0.639;0.639	T	0.03933	-1.0991	10	0.52906	T	0.07	-27.1175	19.2714	0.94011	0.0:1.0:0.0:0.0	.	776;767;785;785	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	K	785;776;723;634;723;766	ENSP00000384144:E785K;ENSP00000437313:E723K;ENSP00000433397:E723K	ENSP00000278752:E776K	E	-	1	0	HYOU1	118424193	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.549000	0.73900	2.884000	0.98904	0.655000	0.94253	GAG	HYOU1	-	pfam_Hsp_70_fam		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	C	NM_006389		118918983	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118918983	C	T	118918983	3	4	160	1	0	0	0	0	1	0	0	0	7490	835	29	1	674	1	HYOU1	11	118918983	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	543400	118918983	16087533	1338	29611										
C2CD2L	9854	genome.wustl.edu	37	chr11	118984878	118984878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggatgatgcagggaccagcgGaggcccctcttcacctccct	12	15	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:118984878G>A	ENST00000528586.1	+	9	1026	c.956G>A	c.(955-957)gGa>gAa	p.G319E	C2CD2L_ENST00000336702.3_Missense_Mutation_p.G572E			O14523	C2C2L_HUMAN	C2CD2-like	571						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGACCAGCGGAGGCCCCTCT	0.622																																																	0													127	125	126					11																	118984878		2200	4295	6495	SO:0001583	missense	9854			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.956G>A	11.37:g.118984878G>A	ENSP00000433600:p.Gly319Glu		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.G572E	ENST00000528586.1	37	c.1715		11	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228653	0.22542	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.52057	0.68;0.68	5.41	4.48	0.54585	.	0.371449	0.24881	N	0.034859	T	0.22003	0.0530	N	0.08118	0	0.25532	N	0.987262	B;B	0.12013	0.005;0.005	B;B	0.14578	0.011;0.011	T	0.18618	-1.0331	10	0.02654	T	1	-3.6519	10.0338	0.42116	0.1524:0.0:0.8476:0.0	.	571;572	O14523;O14523-2	C2C2L_HUMAN;.	E	572;319	ENSP00000338885:G572E;ENSP00000433600:G319E	ENSP00000338885:G572E	G	+	2	0	C2CD2L	118490088	0.215000	0.23574	0.936000	0.37596	0.818000	0.46254	1.652000	0.37313	2.798000	0.96311	0.655000	0.94253	GGA	C2CD2L	-	NULL		0.622	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2	G	NM_014807		118984878	1	no_errors	ENST00000336702	ensembl	human	known	70_37	missense	SNP	0.311	A	A	118984878	G	A	118984878	3	1	160	1	0	0	0	0	1	0	0	0	2158	1174	41	1	1765	1	C2CD2L	11	118984878	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	65895	118984878	16021638	1339	29612										
POU2F3	25833	genome.wustl.edu	37	chr11	120111078	120111078	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaatctggagtccatgcacaCaggtgaggggcggagggaat	17	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:120111078C>G	ENST00000543440.2	+	1	176	c.26C>G	c.(25-27)aCa>aGa	p.T9R	POU2F3_ENST00000260264.4_Intron	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	9					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCATGCACACAGGTGAGGGG	0.677																																																	0													23	25	24					11																	120111078		2199	4300	6499	SO:0001583	missense	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.26C>G	11.37:g.120111078C>G	ENSP00000441687:p.Thr9Arg		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.T9R	ENST00000543440.2	37	c.26	CCDS8431.1	11	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106158	0.37145	.	.	ENSG00000137709	ENST00000260264	D	0.84223	-1.82	4.68	3.76	0.43208	.	3.195390	0.00837	N	0.001704	T	0.77018	0.4069	N	0.14661	0.345	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.62464	-0.6849	10	0.66056	D	0.02	.	7.0953	0.25307	0.1686:0.7404:0.0:0.091	.	9	Q9UKI9	PO2F3_HUMAN	R	9	ENSP00000260264:T9R	ENSP00000260264:T9R	T	+	2	0	POU2F3	119616288	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.359000	0.59449	0.961000	0.38030	0.313000	0.20887	ACA	POU2F3	-	NULL		0.677	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120111078	1	no_errors	ENST00000260264	ensembl	human	known	70_37	missense	SNP	0.999	G	G	120111078	C	G	120111078	3	3	160	1	0	0	0	0	1	0	0	0	12297	478	17	4	28	4	POU2F3	11	120111078	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1126200	120111078	14895438	1340	29613										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120328793	120328793	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttttttcttcataggtttGacagtgtagcttttggagaa	9	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:120328793G>A	ENST00000397843.2	+	25	2396	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D641N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D725N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	744					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCATAGGTTTGACAGTGTAGC	0.353			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													69	67	68					11																	120328793		1834	4089	5923	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2230G>A	11.37:g.120328793G>A	ENSP00000380942:p.Asp744Asn		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D725N	ENST00000397843.2	37	c.2173	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786416	0.90367	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68181	-0.21;-0.31;-0.2	5.98	5.07	0.68467	.	0.000000	0.51477	D	0.000082	T	0.78842	0.4347	M	0.65975	2.015	0.48696	D	0.999694	D;D;D	0.76494	0.984;0.999;0.998	P;D;D	0.71414	0.835;0.973;0.94	T	0.77332	-0.2627	10	0.30854	T	0.27	-16.3457	15.3276	0.74179	0.067:0.0:0.933:0.0	.	641;725;744	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	N	744;725;641	ENSP00000380942:D744N;ENSP00000349056:D725N;ENSP00000432984:D641N	ENSP00000349056:D725N	D	+	1	0	ARHGEF12	119834003	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.015000	0.76387	1.541000	0.49316	0.591000	0.81541	GAC	ARHGEF12	-	NULL		0.353	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120328793	1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120328793	G	A	120328793	3	1	160	1	0	0	0	0	1	0	0	0	897	1290	45	1	2328	1	ARHGEF12	11	120328793	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	217715	120328793	14677723	1341	29614										
TECTA	7007	genome.wustl.edu	37	chr11	120998545	120998545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgctccgacctgacggcctCgcggaactgcgccacgccgt	12	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:120998545C>T	ENST00000392793.1	+	9	2130	c.1859C>T	c.(1858-1860)tCg>tTg	p.S620L	TECTA_ENST00000264037.2_Missense_Mutation_p.S620L			O75443	TECTA_HUMAN	tectorin alpha	620	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGACGGCCTCGCGGAACTGC	0.662																																																	0													64	64	64					11																	120998545		2203	4298	6501	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1859C>T	11.37:g.120998545C>T	ENSP00000376543:p.Ser620Leu			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.S620L	ENST00000392793.1	37	c.1859	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002703	0.74932	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.90844	-2.74;-2.74	5.52	5.52	0.82312	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.066033	0.64402	D	0.000005	D	0.87120	0.6098	L	0.33753	1.03	0.40370	D	0.979336	P	0.44816	0.844	B	0.40636	0.335	D	0.86494	0.1799	10	0.33940	T	0.23	.	19.8087	0.96539	0.0:1.0:0.0:0.0	.	620	O75443	TECTA_HUMAN	L	620	ENSP00000376543:S620L;ENSP00000264037:S620L	ENSP00000264037:S620L	S	+	2	0	TECTA	120503755	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	3.509000	0.53386	2.757000	0.94681	0.655000	0.94253	TCG	TECTA	-	pfam_TIL_dom,superfamily_TIL_dom		0.662	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	C	NM_005422		120998545	1	no_errors	ENST00000264037	ensembl	human	known	70_37	missense	SNP	0.999	T	T	120998545	C	T	120998545	3	4	160	1	0	0	0	0	1	0	0	0	15777	893	31	1	1889	1	TECTA	11	120998545	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	669752	120998545	14007971	1342	29615										
TECTA	7007	genome.wustl.edu	37	chr11	121037448	121037448	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggaagattttatctcctttCagatcaacaacaccaaaggg	8	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:121037448C>T	ENST00000392793.1	+	18	5816	c.5545C>T	c.(5545-5547)Cag>Tag	p.Q1849*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Q1849*			O75443	TECTA_HUMAN	tectorin alpha	1849	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TATCTCCTTTCAGATCAACAA	0.507																																																	0													107	101	103					11																	121037448		2203	4299	6502	SO:0001587	stop_gained	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5545C>T	11.37:g.121037448C>T	ENSP00000376543:p.Gln1849*			Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.Q1849*	ENST00000392793.1	37	c.5545	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.567985	0.99679	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	.	.	.	6.05	6.05	0.98169	.	0.202487	0.45361	D	0.000377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	X	1849	.	ENSP00000264037:Q1849X	Q	+	1	0	TECTA	120542658	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.452000	0.80683	2.866000	0.98385	0.650000	0.86243	CAG	TECTA	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	C	NM_005422		121037448	1	no_errors	ENST00000264037	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	121037448	C	T	121037448	4	4	160	1	0	0	0	0	0	1	0	0	15777	827	29	1	5611	1	TECTA	11	121037448	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	38903	121037448	13969068	1343	29616										
C11orf63	79864	genome.wustl.edu	37	chr11	122756799	122756799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agacgaggaggaaagccctcGatggggaagcctgcacgaga	16	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:122756799G>A	ENST00000531316.1	+	1	334	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	C11orf63_ENST00000307257.6_Missense_Mutation_p.R81Q|C11orf63_ENST00000227349.2_Missense_Mutation_p.R81Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	81					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAAAGCCCTCGATGGGGAAGC	0.547																																																	0													109	110	110					11																	122756799		2202	4299	6501	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.242G>A	11.37:g.122756799G>A	ENSP00000431669:p.Arg81Gln		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.R81Q	ENST00000531316.1	37	c.242	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	1.246	-0.620090	0.03636	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.42513	0.97;0.97	4.46	-8.93	0.00771	.	4.986800	0.00649	N	0.000541	T	0.12518	0.0304	N	0.02011	-0.69	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.04013	0.001;0.001	T	0.19063	-1.0317	10	0.12766	T	0.61	4.8637	2.6299	0.04941	0.5313:0.2045:0.1213:0.1429	.	81;81	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Q	81	ENSP00000227349:R81Q;ENSP00000431669:R81Q	ENSP00000227349:R81Q	R	+	2	0	C11orf63	122262009	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.552000	0.02176	-2.586000	0.00459	0.411000	0.27672	CGA	C11orf63	-	NULL		0.547	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	G	NM_024806		122756799	1	no_errors	ENST00000227349	ensembl	human	known	70_37	missense	SNP	0.000	A	A	122756799	G	A	122756799	3	1	160	1	0	0	0	0	1	0	0	0	1658	1058	37	1	244	1	C11orf63	11	122756799	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1719351	122756799	12249717	1344	29617										
OR8D4	338662	genome.wustl.edu	37	chr11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actcaggttgtctttctgtgGatcaaacatcattaaacatt	6	8	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:123777647G>A	ENST00000321355.2	+	1	539	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																																	0													218	214	216					11																	123777647		2202	4299	6501	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>A	11.37:g.123777647G>A	ENSP00000325381:p.Gly170Glu		Q6IFE9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G170E	ENST00000321355.2	37	c.509	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313868	0.05422	.	.	ENSG00000181518	ENST00000321355	T	0.38887	1.11	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.39226	0.1070	M	0.69463	2.115	0.09310	N	1	B	0.21225	0.053	B	0.30251	0.113	T	0.36212	-0.9757	10	0.20046	T	0.44	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	E	170	ENSP00000325381:G170E	ENSP00000325381:G170E	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA	OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1	G	NM_001005197		123777647	1	no_errors	ENST00000321355	ensembl	human	known	70_37	missense	SNP	0.000	A	A	123777647	G	A	123777647	3	1	160	1	0	0	0	0	1	0	0	0	11257	1174	41	1	511	1	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1020848	123777647	11228869	1345	29618										
OR4D5	219875	genome.wustl.edu	37	chr11	123810603	123810603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggcaaccctaccatttccTttggtggatgcctgactcaa	8	13	1	1	rs146925616	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:123810603T>C	ENST00000307033.2	+	1	354	c.280T>C	c.(280-282)Ttt>Ctt	p.F94L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TACCATTTCCTTTGGTGGATG	0.473																																																	0													142	119	127					11																	123810603		2202	4299	6501	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.280T>C	11.37:g.123810603T>C	ENSP00000305970:p.Phe94Leu		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F94L	ENST00000307033.2	37	c.280	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607311	0.66558	.	.	ENSG00000171014	ENST00000307033	T	0.00327	8.09	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.138664	0.33127	N	0.005244	T	0.00412	0.0013	L	0.53249	1.67	0.28021	N	0.934511	D	0.56746	0.977	P	0.50537	0.643	T	0.64019	-0.6505	10	0.37606	T	0.19	-16.6804	15.2581	0.73601	0.0:0.0:0.0:1.0	.	94	Q8NGN0	OR4D5_HUMAN	L	94	ENSP00000305970:F94L	ENSP00000305970:F94L	F	+	1	0	OR4D5	123315813	0.000000	0.05858	0.999000	0.59377	0.856000	0.48823	0.309000	0.19332	2.082000	0.62665	0.533000	0.62120	TTT	OR4D5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	T	NM_001001965		123810603	1	no_errors	ENST00000307033	ensembl	human	known	70_37	missense	SNP	0.977	C	C	123810603	T	C	123810603	3	2	160	1	0	0	0	0	1	0	0	0	11081	1609	56	5	282	5	OR4D5	11	123810603	Missense_Mutation	SNP	T	TCGA-JW-A5VL-01A-11D-A28B-09	32956	123810603	11195913	1346	29619										
OR8B8	26493	genome.wustl.edu	37	chr11	124310211	124310211	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaaagggtttgaggtacatGaatgctcctgacccaaagaa	11	7	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:124310211G>C	ENST00000328064.2	-	1	843	c.771C>G	c.(769-771)ttC>ttG	p.F257L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGAGGTACATGAATGCTCCTG	0.468																																																	0													86	77	80					11																	124310211		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.771C>G	11.37:g.124310211G>C	ENSP00000330280:p.Phe257Leu		A1L446|Q96RC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F257L	ENST00000328064.2	37	c.771	CCDS8446.1	11	.	.	.	.	.	.	.	.	.	.	G	9.641	1.138887	0.21123	.	.	ENSG00000197125	ENST00000328064	T	0.00241	8.46	3.81	-2.78	0.05859	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000209	T	0.00300	0.0009	L	0.45698	1.435	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47548	-0.9109	10	0.87932	D	0	.	8.2106	0.31481	0.6734:0.0:0.1985:0.1281	.	257	Q15620	OR8B8_HUMAN	L	257	ENSP00000330280:F257L	ENSP00000330280:F257L	F	-	3	2	OR8B8	123815421	0.123000	0.22298	0.104000	0.21259	0.216000	0.24613	0.140000	0.16056	-0.609000	0.05724	-0.793000	0.03317	TTC	OR8B8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	G	NM_012378		124310211	-1	no_errors	ENST00000328064	ensembl	human	putative	70_37	missense	SNP	0.000	C	C	124310211	G	C	124310211	3	2	160	1	0	0	0	0	1	0	0	0	11254	1281	45	1	167	1	OR8B8	11	124310211	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	499608	124310211	10696305	1347	29620										
CHEK1	1111	genome.wustl.edu	37	chr11	125499337	125499337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggatattaaaccagaaaatCttctgttggatgaaaggggt	12	4	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:125499337C>T	ENST00000534070.1	+	5	661	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CHEK1_ENST00000278916.3_Missense_Mutation_p.L136F|CHEK1_ENST00000438015.1_Missense_Mutation_p.L136F|CHEK1_ENST00000544373.1_Missense_Mutation_p.L136F|CHEK1_ENST00000427383.2_Missense_Mutation_p.L152F|CHEK1_ENST00000524737.1_Missense_Mutation_p.L136F|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.L136F	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	136	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCAGAAAATCTTCTGTTGGA	0.279								Other conserved DNA damage response genes																																									0													95	98	97					11																	125499337		2201	4299	6500	SO:0001583	missense	1111			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.406C>T	11.37:g.125499337C>T	ENSP00000435371:p.Leu136Phe		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	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.L136F	ENST00000534070.1	37	c.406	CCDS8459.1	11	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615407	0.66672	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063424	0.64402	D	0.000010	T	0.50905	0.1643	M	0.65498	2.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.996;0.993	T	0.46775	-0.9167	9	.	.	.	-12.0523	11.2576	0.49063	0.0:0.9143:0.0:0.0857	.	136;152;136;136	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	F	136;152;136;136;136;136;136;136;57;136	ENSP00000388648:L136F;ENSP00000391090:L152F;ENSP00000412504:L136F;ENSP00000442317:L136F;ENSP00000431525:L136F;ENSP00000431815:L136F;ENSP00000435371:L136F;ENSP00000432890:L136F;ENSP00000434646:L57F;ENSP00000278916:L136F	.	L	+	1	0	CHEK1	125004547	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.778000	0.62368	2.556000	0.86216	0.586000	0.80456	CTT	CHEK1	-	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		0.279	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	HGNC	protein_coding	OTTHUMT00000386714.1	C	NM_001274		125499337	1	no_errors	ENST00000438015	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125499337	C	T	125499337	3	4	160	1	0	0	0	0	1	0	0	0	3339	913	32	1	420	1	CHEK1	11	125499337	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1189126	125499337	9507179	1348	29621										
ACRV1	56	genome.wustl.edu	37	chr11	125546339	125546339	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agacattttccttgatcattCatataagcacatgtgtagca	6	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:125546339C>T	ENST00000533904.1	-	3	930	c.588G>A	c.(586-588)atG>atA	p.M196I	ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.M107I|ACRV1_ENST00000348856.3_Missense_Mutation_p.M96I|ACRV1_ENST00000445562.1_Missense_Mutation_p.M101I|ACRV1_ENST00000530048.1_Missense_Mutation_p.M141I|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.M126I|ACRV1_ENST00000425431.1_Missense_Mutation_p.M52I|ACRV1_ENST00000315608.3_Missense_Mutation_p.M177I			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	196					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTTGATCATTCATATAAGCAC	0.398																																																	0													144	139	141					11																	125546339		2201	4299	6500	SO:0001583	missense	56			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.588G>A	11.37:g.125546339C>T	ENSP00000432816:p.Met196Ile		Q53FF4	Missense_Mutation	SNP	NULL	p.M196I	ENST00000533904.1	37	c.588	CCDS8460.1	11	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983226	0.53827	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.69	4.69	0.59074	.	0.000000	0.53938	D	0.000058	T	0.45034	0.1322	L	0.56769	1.78	0.80722	D	1	D;P;D;D;P;D;B	0.71674	0.986;0.952;0.986;0.998;0.93;0.982;0.257	D;P;D;D;B;D;B	0.79784	0.971;0.892;0.974;0.993;0.43;0.961;0.141	T	0.18023	-1.0350	10	0.40728	T	0.16	-2.34	13.3297	0.60479	0.0:1.0:0.0:0.0	.	196;177;101;141;52;126;107	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	I	196;177;141;126;107;101;96;52;177;141;126	ENSP00000432816:M196I;ENSP00000407846:M177I;ENSP00000257382:M141I;ENSP00000411583:M126I;ENSP00000397448:M107I;ENSP00000412653:M101I;ENSP00000257385:M96I;ENSP00000395453:M52I;ENSP00000317684:M177I;ENSP00000433720:M141I;ENSP00000436819:M126I	ENSP00000257382:M141I	M	-	3	0	ACRV1	125051549	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.114000	0.50383	2.596000	0.87737	0.655000	0.94253	ATG	ACRV1	-	NULL		0.398	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACRV1	HGNC	protein_coding	OTTHUMT00000386722.1	C	NM_001612		125546339	-1	no_errors	ENST00000533904	ensembl	human	known	70_37	missense	SNP	1.000	T	T	125546339	C	T	125546339	3	4	160	1	0	0	0	0	1	0	0	0	172	826	29	1	217	1	ACRV1	11	125546339	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	47002	125546339	9460177	1349	29622										
CDON	50937	genome.wustl.edu	37	chr11	125893310	125893310	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttacctgaactcacagaaGagcacagaattgtaagagta	8	8	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:125893310G>T	ENST00000392693.3	-	2	189	c.62C>A	c.(61-63)tCt>tAt	p.S21Y	CDON_ENST00000263577.7_Missense_Mutation_p.S21Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	21					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S21C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTCACAGAAGAGCACAGAAT	0.423																																																	1	Substitution - Missense(1)	ovary(1)											138	135	136					11																	125893310		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.62C>A	11.37:g.125893310G>T	ENSP00000376458:p.Ser21Tyr		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S21Y	ENST00000392693.3	37	c.62	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742155	0.49151	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818	T;T;T;T;T	0.78364	-0.53;-0.53;0.08;-0.29;-1.17	5.65	5.65	0.86999	.	0.255981	0.28057	N	0.016775	T	0.78317	0.4264	L	0.56769	1.78	0.20074	N	0.999935	P;P;P	0.50943	0.924;0.94;0.813	P;P;B	0.48030	0.564;0.541;0.392	T	0.72824	-0.4176	10	0.39692	T	0.17	-8.4027	13.6395	0.62241	0.075:0.0:0.925:0.0	.	21;21;21	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	Y	21	ENSP00000376458:S21Y;ENSP00000263577:S21Y;ENSP00000434212:S21Y;ENSP00000436940:S21Y;ENSP00000437176:S21Y	ENSP00000263577:S21Y	S	-	2	0	CDON	125398520	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	6.507000	0.73717	2.656000	0.90262	0.591000	0.81541	TCT	CDON	-	NULL		0.423	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125893310	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	missense	SNP	0.398	T	T	125893310	G	T	125893310	3	4	160	1	0	0	0	0	1	0	0	0	3175	942	33	3	3808	3	CDON	11	125893310	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	346971	125893310	9113206	1350	29623										
FLI1	2313	genome.wustl.edu	37	chr11	128675282	128675282	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccttcttatgactcagtcaGaagaggagcttggggcaata	11	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:128675282G>A	ENST00000527786.2	+	6	1166	c.677G>A	c.(676-678)aGa>aAa	p.R226K	FLI1_ENST00000534087.2_Missense_Mutation_p.R193K|FLI1_ENST00000525560.1_Missense_Mutation_p.R33K|FLI1_ENST00000281428.8_Missense_Mutation_p.R160K|FLI1_ENST00000344954.6_Missense_Mutation_p.R193K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	226					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GACTCAGTCAGAAGAGGAGCT	0.393			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													70	68	69					11																	128675282		1843	4080	5923	SO:0001583	missense	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.677G>A	11.37:g.128675282G>A	ENSP00000433488:p.Arg226Lys		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.R226K	ENST00000527786.2	37	c.677	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513088	0.64522	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.23147	1.92;2.53;2.52;2.53;2.52	5.77	5.77	0.91146	.	0.506212	0.20193	N	0.097262	T	0.34774	0.0909	M	0.65975	2.015	0.47037	D	0.999294	B;B;B	0.32731	0.001;0.378;0.382	B;B;B	0.32624	0.001;0.067;0.149	T	0.14896	-1.0456	10	0.66056	D	0.02	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	226;33;160	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	33;193;226;193;160	ENSP00000437124:R33K;ENSP00000339627:R193K;ENSP00000399985:R226K;ENSP00000432950:R193K;ENSP00000281428:R160K	ENSP00000281428:R160K	R	+	2	0	FLI1	128180492	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.394000	0.66285	2.884000	0.98904	0.655000	0.94253	AGA	FLI1	-	NULL		0.393	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2	G	NM_002017		128675282	1	no_errors	ENST00000429175	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128675282	G	A	128675282	3	1	160	1	0	0	0	0	1	0	0	0	5942	942	33	1	699	1	FLI1	11	128675282	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2781972	128675282	6331234	1351	29624										
KCNJ1	3758	genome.wustl.edu	37	chr11	128709914	128709914	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcataccacaggagaccaaaGaaaaaccaactccccaagaa	6	13	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:128709914G>C	ENST00000392664.2	-	2	398	c.282C>G	c.(280-282)ttC>ttG	p.F94L	KCNJ1_ENST00000440599.2_Missense_Mutation_p.F75L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F75L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F75L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F75L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	94					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GGAGACCAAAGAAAAACCAAC	0.443																																																	0													105	100	101					11																	128709914		2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.282C>G	11.37:g.128709914G>C	ENSP00000376432:p.Phe94Leu		B2RMR4|Q6LD67	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir	p.F94L	ENST00000392664.2	37	c.282	CCDS8476.1	11	.	.	.	.	.	.	.	.	.	.	G	0.312	-0.967288	0.02232	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.79	3.8	0.43715	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.278251	0.34245	N	0.004137	T	0.77811	0.4186	N	0.04768	-0.165	0.35589	D	0.806917	B	0.02656	0.0	B	0.01281	0.0	T	0.71474	-0.4582	10	0.06494	T	0.89	.	7.9086	0.29776	0.1483:0.2147:0.637:0.0	.	94	P48048	IRK1_HUMAN	L	75;75;75;75;94;75	ENSP00000376433:F75L;ENSP00000376434:F75L;ENSP00000406320:F75L;ENSP00000316233:F75L;ENSP00000376432:F94L;ENSP00000316136:F75L	ENSP00000316136:F75L	F	-	3	2	KCNJ1	128215124	0.995000	0.38212	1.000000	0.80357	0.312000	0.27988	0.267000	0.18552	1.442000	0.47568	0.557000	0.71058	TTC	KCNJ1	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.443	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	KCNJ1	HGNC	protein_coding	OTTHUMT00000386233.1	G	NM_000220		128709914	-1	no_errors	ENST00000392664	ensembl	human	known	70_37	missense	SNP	1.000	C	C	128709914	G	C	128709914	3	2	160	1	0	0	0	0	1	0	0	0	8063	933	33	1	897	1	KCNJ1	11	128709914	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	34632	128709914	6296602	1352	29625										
ADAMTS15	170689	genome.wustl.edu	37	chr11	130319206	130319206	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgtgaacgccgagccggactCgttcgctgctgtgagcctgt	14	13	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr11:130319206C>G	ENST00000299164.2	+	1	338	c.338C>G	c.(337-339)tCg>tGg	p.S113W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	113						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGCCGGACTCGTTCGCTGCT	0.677																																																	0													34	42	40					11																	130319206		2199	4295	6494	SO:0001583	missense	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.338C>G	11.37:g.130319206C>G	ENSP00000299164:p.Ser113Trp		Q32MI6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.S113W	ENST00000299164.2	37	c.338	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587367	0.86851	.	.	ENSG00000166106	ENST00000299164	T	0.13657	2.57	4.63	4.63	0.57726	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.41534	0.1163	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43180	-0.9407	9	0.87932	D	0	.	17.6177	0.88072	0.0:1.0:0.0:0.0	.	113	Q8TE58	ATS15_HUMAN	W	113	ENSP00000299164:S113W	ENSP00000299164:S113W	S	+	2	0	ADAMTS15	129824416	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.398000	0.79919	2.550000	0.86006	0.561000	0.74099	TCG	ADAMTS15	-	pfam_Peptidase_M12B_N		0.677	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	C	NM_139055		130319206	1	no_errors	ENST00000299164	ensembl	human	known	70_37	missense	SNP	1.000	G	G	130319206	C	G	130319206	3	3	160	1	0	0	0	0	1	0	0	0	260	893	31	1	340	1	ADAMTS15	11	130319206	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1609292	130319206	4687310	1353	29626										
KDM5A	5927	genome.wustl.edu	37	chr12	402293	402293	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgtttcttctctgaagagtCctttcctttcacttttagtg	6	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:402293C>G	ENST00000399788.2	-	27	4860	c.4498G>C	c.(4498-4500)Gac>Cac	p.D1500H	KDM5A_ENST00000540838.1_5'Flank|KDM5A_ENST00000382815.4_Missense_Mutation_p.D1500H	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1500	Lys-rich.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTGAAGAGTCCTTTCCTTTC	0.348			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													81	73	76					12																	402293		1836	4078	5914	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4498G>C	12.37:g.402293C>G	ENSP00000382688:p.Asp1500His		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D1500H	ENST00000399788.2	37	c.4498	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346729	0.82022	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85955	-2.05;-1.83	5.77	5.77	0.91146	.	0.163424	0.52532	D	0.000064	D	0.89550	0.6747	L	0.48642	1.525	0.80722	D	1	D;D	0.61697	0.983;0.99	P;P	0.61592	0.78;0.891	D	0.88814	0.3294	10	0.49607	T	0.09	-13.292	19.9785	0.97317	0.0:1.0:0.0:0.0	.	1500;1500	P29375;P29375-2	KDM5A_HUMAN;.	H	1500	ENSP00000382688:D1500H;ENSP00000372265:D1500H	ENSP00000372265:D1500H	D	-	1	0	KDM5A	272554	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.797000	0.85911	2.724000	0.93272	0.650000	0.86243	GAC	KDM5A	-	NULL		0.348	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		402293	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	G	G	402293	C	G	402293	3	3	160	1	0	0	0	0	1	0	0	0	8153	855	30	1	582	1	KDM5A	12	402293	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		402293	133449602	1354	29627										
WNK1	65125	genome.wustl.edu	37	chr12	1005527	1005527	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaaacaaagtgggtcgtttCtctgtatcaaaaactgagga	10	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:1005527C>G	ENST00000315939.6	+	24	6517	c.5874C>G	c.(5872-5874)ttC>ttG	p.F1958L	WNK1_ENST00000530271.2_Missense_Mutation_p.F2456L|WNK1_ENST00000535572.1_Missense_Mutation_p.F1710L|WNK1_ENST00000537687.1_Missense_Mutation_p.F2218L|WNK1_ENST00000340908.4_Missense_Mutation_p.F1551L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1958					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGGGTCGTTTCTCTGTATCAA	0.468																																					Colon(19;451 567 6672 12618 28860)												0													128	127	127					12																	1005527		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5874C>G	12.37:g.1005527C>G	ENSP00000313059:p.Phe1958Leu		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F2456L	ENST00000315939.6	37	c.7368	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321652	0.60634	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.75367	-0.91;-0.87;-0.85;-0.93;0.32	5.92	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.81936	0.4928	M	0.63843	1.955	0.46678	D	0.999158	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	T	0.82178	-0.0586	10	0.66056	D	0.02	-12.8274	8.9645	0.35867	0.0:0.7941:0.0:0.2059	.	1711;1710;1958	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	1710;1958;2218;1131;2456;1551	ENSP00000441972:F1710L;ENSP00000313059:F1958L;ENSP00000444465:F2218L;ENSP00000433548:F2456L;ENSP00000341292:F1551L	ENSP00000252477:F1131L	F	+	3	2	WNK1	875788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.525000	0.35953	2.804000	0.96469	0.655000	0.94253	TTC	WNK1	-	NULL		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		1005527	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1005527	C	G	1005527	3	3	160	1	0	0	0	0	1	0	0	0	17408	912	32	1	7470	1	WNK1	12	1005527	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	603234	1005527	132846368	1355	29628										
CACNA2D4	93589	genome.wustl.edu	37	chr12	1910285	1910285	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatagtcatacatagtcactCtgaaaatcagaagcgggctg	10	8	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:1910285C>T	ENST00000382722.5	-	31	3155		c.e31-1		CACNA2D4_ENST00000587995.1_Splice_Site|CACNA2D4_ENST00000538027.2_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000538450.1_Splice_Site	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4						calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CATAGTCACTCTGAAAATCAG	0.577											OREG0021569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(2;101 179 21030 23310 28141)												0													87	100	95					12																	1910285		2190	4286	6476	SO:0001630	splice_region_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2793-1G>A	12.37:g.1910285C>T		599	Q7Z3S8|Q86XZ5|Q8IZS9	Splice_Site	SNP	-	e31-1	ENST00000382722.5	37	c.2793-1	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975093	0.18736	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722;ENST00000538450	.	.	.	5.63	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9683	0.58497	0.1622:0.8378:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D4	1780546	1.000000	0.71417	0.987000	0.45799	0.040000	0.13550	6.662000	0.74426	1.366000	0.46076	-0.311000	0.09066	.	CACNA2D4	-	-		0.577	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	C		Intron	1910285	-1	no_errors	ENST00000382722	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	1910285	C	T	1910285	5	4	160	1	0	0	0	0	0	0	1	0	2556	927	32	1	653	1	CACNA2D4	12	1910285	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	904758	1910285	131941610	1356	29629										
FOXM1	2305	genome.wustl.edu	37	chr12	2968012	2968012	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcttggggacgtctatatctGagggagaagagttgccaaag	15	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:2968012G>C	ENST00000359843.3	-	9	2152	c.2084C>G	c.(2083-2085)tCa>tGa	p.S695*	FOXM1_ENST00000361953.3_Nonsense_Mutation_p.S680*|AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Nonsense_Mutation_p.S733*|ITFG2_ENST00000545509.1_Intron	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	695					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTCTATATCTGAGGGAGAAGA	0.557																																																	0													57	61	59					12																	2968012		2203	4300	6503	SO:0001587	stop_gained	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2084C>G	12.37:g.2968012G>C	ENSP00000352901:p.Ser695*		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Nonsense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S733*	ENST00000359843.3	37	c.2198	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403820	0.83230	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	.	.	.	4.72	4.72	0.59763	.	0.844873	0.10313	N	0.689750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.0492	0.30568	0.1111:0.0:0.8889:0.0	.	.	.	.	X	733;680;695	.	ENSP00000342307:S733X	S	-	2	0	FOXM1	2838273	0.467000	0.25831	0.014000	0.15608	0.008000	0.06430	2.192000	0.42649	2.445000	0.82738	0.561000	0.74099	TCA	FOXM1	-	NULL		0.557	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	G	NM_021953		2968012	-1	no_errors	ENST00000342628	ensembl	human	known	70_37	nonsense	SNP	0.007	C	C	2968012	G	C	2968012	4	2	160	1	0	0	0	0	0	1	0	0	6036	1294	45	1	211	1	FOXM1	12	2968012	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1057727	2968012	130883883	1357	29630										
KCNA6	3742	genome.wustl.edu	37	chr12	4920615	4920615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttctaccaccgggagacgGagcaggaggagcaaggccag	15	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:4920615G>A	ENST00000280684.3	+	1	2274	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.E470K			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	470					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCGGGAGACGGAGCAGGAGGA	0.617										HNSCC(72;0.22)																																							0													133	123	126					12																	4920615		2203	4300	6503	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1408G>A	12.37:g.4920615G>A	ENSP00000280684:p.Glu470Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E470K	ENST00000280684.3	37	c.1408	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859999	0.91433	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97404	-4.37;-4.37	5.09	5.09	0.68999	.	0.101947	0.64402	D	0.000003	D	0.97870	0.9300	M	0.72894	2.215	0.54753	D	0.999989	B	0.33477	0.413	P	0.50860	0.652	D	0.98302	1.0519	10	0.66056	D	0.02	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	470	P17658	KCNA6_HUMAN	K	470	ENSP00000408321:E470K;ENSP00000280684:E470K	ENSP00000280684:E470K	E	+	1	0	KCNA6	4790876	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.565000	0.98154	2.641000	0.89580	0.591000	0.81541	GAG	KCNA6	-	NULL		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	G	NM_002235		4920615	1	no_errors	ENST00000280684	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4920615	G	A	4920615	3	1	160	1	0	0	0	0	1	0	0	0	8027	1175	41	1	1410	1	KCNA6	12	4920615	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1952603	4920615	128931280	1358	29631										
ANO2	57101	genome.wustl.edu	37	chr12	5685071	5685071	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttcagctggctgacgttGaaaaaggagagggtgtggtt	15	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:5685071G>C	ENST00000356134.5	-	25	2624	c.2553C>G	c.(2551-2553)ttC>ttG	p.F851L	ANO2_ENST00000327087.8_Missense_Mutation_p.F850L|ANO2_ENST00000546188.1_Missense_Mutation_p.F851L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	855					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTGACGTTGAAAAAGGAGA	0.527																																																	0													67	69	68					12																	5685071		1939	4153	6092	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2553C>G	12.37:g.5685071G>C	ENSP00000348453:p.Phe851Leu		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.F851L	ENST00000356134.5	37	c.2553		12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131423	0.77549	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70749	-0.51;-0.51;-0.51	5.28	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.91406	3.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87103	0.2180	10	0.72032	D	0.01	.	11.5498	0.50715	0.1459:0.0:0.8541:0.0	.	850	Q9NQ90-3	.	L	850;851;851;855	ENSP00000314048:F850L;ENSP00000348453:F851L;ENSP00000440981:F851L	ENSP00000314048:F850L	F	-	3	2	ANO2	5555332	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	0.729000	0.32403	-0.133000	0.14855	TTC	ANO2	-	pfam_Anoctamin		0.527	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	G	NM_020373		5685071	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5685071	G	C	5685071	3	2	160	1	0	0	0	0	1	0	0	0	697	1281	45	1	458	1	ANO2	12	5685071	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	764456	5685071	128166824	1359	29632										
VWF	7450	genome.wustl.edu	37	chr12	6128108	6128108	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatccagaaccatggagttCctcttgggccccagggtcga	11	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6128108C>T	ENST00000261405.5	-	28	4730	c.4476G>A	c.(4474-4476)agG>agA	p.R1492R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1492					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCATGGAGTTCCTCTTGGGCC	0.592																																																	0													33	37	36					12																	6128108		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4476G>A	12.37:g.6128108C>T			Q8TCE8|Q99806	Silent	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R1492	ENST00000261405.5	37	c.4476	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6128108	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	silent	SNP	0.001	T	T	6128108	C	T	6128108	2	4	160	1	0	0	0	0	0	0	0	1	17277	854	30	1		1	VWF	12	6128108	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	443037	6128108	127723787	1360	29633										
VWF	7450	genome.wustl.edu	37	chr12	6230362	6230362	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataatcgagaaggagcgtttCtggcagccccctgccaggag	13	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6230362C>G	ENST00000261405.5	-	3	452	c.198G>C	c.(196-198)caG>caC	p.Q66H	VWF_ENST00000572068.1_Missense_Mutation_p.Q103H|VWF_ENST00000545906.1_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	66	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAGCGTTTCTGGCAGCCCC	0.572																																																	0													68	66	67					12																	6230362		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.198G>C	12.37:g.6230362C>G	ENSP00000261405:p.Gln66His		Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.Q66H	ENST00000261405.5	37	c.198	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215120	0.39102	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	5.22	4.27	0.50696	von Willebrand factor, type D domain (3);	0.000000	0.38381	N	0.001710	T	0.50480	0.1618	L	0.28192	0.835	0.28201	N	0.927336	B;B;P	0.50819	0.02;0.335;0.939	B;B;P	0.52267	0.055;0.211;0.694	T	0.42481	-0.9449	10	0.35671	T	0.21	.	8.3215	0.32132	0.1544:0.5749:0.2706:0.0	.	66;103;66	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	H	66	ENSP00000261405:Q66H	ENSP00000261405:Q66H	Q	-	3	2	VWF	6100623	0.997000	0.39634	0.985000	0.45067	0.384000	0.30261	0.781000	0.26774	2.439000	0.82584	0.313000	0.20887	CAG	VWF	-	pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6230362	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	0.904	G	G	6230362	C	G	6230362	3	3	160	1	0	0	0	0	1	0	0	0	17277	912	32	1	8443	1	VWF	12	6230362	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	102254	6230362	127621533	1361	29634										
SCNN1A	6337	genome.wustl.edu	37	chr12	6457203	6457203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catggggtgggggcagaagtGggaaggaggggaggatgcca	23	4	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6457203G>A	ENST00000228916.2	-	13	1944	c.1846C>T	c.(1846-1848)Cac>Tac	p.H616Y	SCNN1A_ENST00000543768.1_Missense_Mutation_p.H639Y|SCNN1A_ENST00000360168.3_Missense_Mutation_p.H675Y|SCNN1A_ENST00000540037.1_Missense_Mutation_p.H316Y|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.H638Y	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	616					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	gggcagaagtgggaaggaggg	0.672																																																	0													31	28	29					12																	6457203		2201	4298	6499	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1846C>T	12.37:g.6457203G>A	ENSP00000228916:p.His616Tyr		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.H638Y	ENST00000228916.2	37	c.1912	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	1.716	-0.497779	0.04291	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.69926	-0.41;-0.44;-0.23;-0.39;-0.4	3.85	-0.596	0.11657	.	1.203120	0.06060	N	0.658138	T	0.46073	0.1374	L	0.36672	1.1	0.09310	N	1	P;P;P	0.44578	0.837;0.734;0.838	B;B;B	0.37550	0.129;0.091;0.253	T	0.30909	-0.9962	10	0.02654	T	1	-0.0501	5.2599	0.15567	0.1048:0.0:0.387:0.5083	.	639;616;675	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Y	675;638;316;616;639	ENSP00000353292:H675Y;ENSP00000351825:H638Y;ENSP00000440876:H316Y;ENSP00000228916:H616Y;ENSP00000438739:H639Y	ENSP00000228916:H616Y	H	-	1	0	SCNN1A	6327464	0.994000	0.37717	0.043000	0.18650	0.479000	0.33129	-0.232000	0.09055	-0.032000	0.13758	0.555000	0.69702	CAC	SCNN1A	-	NULL		0.672	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	G			6457203	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	missense	SNP	0.017	A	A	6457203	G	A	6457203	3	1	160	1	0	0	0	0	1	0	0	0	13957	1348	47	4	167	4	SCNN1A	12	6457203	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	226841	6457203	127394692	1362	29635										
NOP2	4839	genome.wustl.edu	37	chr12	6669685	6669685	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgacagagtcaatagcactCaggagcaactccttctggag	10	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6669685C>T	ENST00000322166.5	-	14	1609	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000399466.2_Silent_p.L492L|NOP2_ENST00000537442.1_Silent_p.L496L|NOP2_ENST00000382421.3_Silent_p.L529L|NOP2_ENST00000545200.1_Silent_p.L492L|NOP2_ENST00000541778.1_Silent_p.L492L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	496					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAATAGCACTCAGGAGCAACT	0.557																																																	0													51	52	51					12																	6669685		2007	4175	6182	SO:0001819	synonymous_variant	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1488G>A	12.37:g.6669685C>T			A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.L496	ENST00000322166.5	37	c.1488	CCDS58203.1	12																																																																																			NOP2	-	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p		0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	C	NM_006170		6669685	-1	no_errors	ENST00000322166	ensembl	human	known	70_37	silent	SNP	0.997	T	T	6669685	C	T	6669685	2	4	160	1	0	0	0	0	0	0	0	1	10562	813	29	1		1	NOP2	12	6669685	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	212482	6669685	127182210	1363	29636										
CHD4	1108	genome.wustl.edu	37	chr12	6709028	6709028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaggaagaaggacaggtatCacagcagagcagttccccac	12	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6709028C>T	ENST00000357008.2	-	10	1556	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	CHD4_ENST00000544040.1_Missense_Mutation_p.D458N|CHD4_ENST00000544484.1_Missense_Mutation_p.D462N|CHD4_ENST00000309577.6_Missense_Mutation_p.D465N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	465					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGACAGGTATCACAGCAGAGC	0.557																																					Colon(32;586 792 4568 16848 45314)												0													183	171	175					12																	6709028		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1393G>A	12.37:g.6709028C>T	ENSP00000349508:p.Asp465Asn		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D465N	ENST00000357008.2	37	c.1393	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530341	0.85706	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.3	4.3	0.51218	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056121	0.64402	D	0.000001	T	0.60779	0.2295	H	0.96239	3.79	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.877	D;D;P	0.97110	0.997;1.0;0.548	T	0.75622	-0.3254	10	0.62326	D	0.03	-0.8451	17.3382	0.87288	0.0:1.0:0.0:0.0	.	465;465;458	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	462;458;465;465;439	ENSP00000440392:D462N;ENSP00000440542:D458N;ENSP00000312419:D465N;ENSP00000349508:D465N	ENSP00000312419:D465N	D	-	1	0	CHD4	6579289	1.000000	0.71417	0.825000	0.32803	0.778000	0.44026	7.572000	0.82409	2.381000	0.81170	0.563000	0.77884	GAT	CHD4	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.557	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6709028	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6709028	C	T	6709028	3	4	160	1	0	0	0	0	1	0	0	0	3332	826	29	1	4469	1	CHD4	12	6709028	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	39343	6709028	127142867	1364	29637										
CD4	920	genome.wustl.edu	37	chr12	6926360	6926360	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctcccctaagctgatgctGagtttgaaactggagaacaa	9	10	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6926360G>A	ENST00000011653.4	+	7	1278	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	340	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGCTGATGCTGAGTTTGAAAC	0.567																																																	0													85	66	72					12																	6926360		2203	4300	6503	SO:0001819	synonymous_variant	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1020G>A	12.37:g.6926360G>A			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.L340	ENST00000011653.4	37	c.1020	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set		0.567	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	G	NM_000616		6926360	1	no_errors	ENST00000011653	ensembl	human	known	70_37	silent	SNP	0.985	A	A	6926360	G	A	6926360	2	1	160	1	0	0	0	0	0	0	0	1	3019	1277	45	1		1	CD4	12	6926360	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	217332	6926360	126925535	1365	29638										
CD4	920	genome.wustl.edu	37	chr12	6927704	6927704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtgtcaggtgccggcaccGaagggtgagtaaccccacac	13	13	1	1	rs369537966		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:6927704G>A	ENST00000011653.4	+	8	1532	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	425					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TGCCGGCACCGAAGGGTGAGT	0.602													G|||	4	0.000798722	0.003	0	5008	,	,		-128	0		0	False		,,,				2504	0																0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59	58	58		1274,737,455,455,455	1.4	0	12		58	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	CD4	NM_000616.4,NM_001195014.2,NM_001195015.2,NM_001195016.2,NM_001195017.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	425/459,246/280,152/186,152/186,152/186	6927704	1,13005	2203	4300	6503	SO:0001583	missense	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1274G>A	12.37:g.6927704G>A	ENSP00000011653:p.Arg425Gln		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.R425Q	ENST00000011653.4	37	c.1274	CCDS8562.1	12	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402691	0.25291	2.27E-4	0.0	ENSG00000010610	ENST00000011653	T	0.31769	1.48	4.23	1.36	0.22044	.	0.353495	0.27284	N	0.020076	T	0.16171	0.0389	L	0.44542	1.39	0.09310	N	0.999997	D;P	0.54964	0.969;0.778	B;B	0.32805	0.153;0.074	T	0.23190	-1.0195	10	0.33940	T	0.23	-10.6475	5.7088	0.17923	0.3569:0.0:0.6431:0.0	.	246;425	B0AZV7;P01730	.;CD4_HUMAN	Q	425	ENSP00000011653:R425Q	ENSP00000011653:R425Q	R	+	2	0	CD4	6797965	0.185000	0.23213	0.027000	0.17364	0.495000	0.33615	1.227000	0.32576	0.078000	0.16900	0.561000	0.74099	CGA	CD4	-	NULL		0.602	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	G	NM_000616		6927704	1	no_errors	ENST00000011653	ensembl	human	known	70_37	missense	SNP	0.039	A	A	6927704	G	A	6927704	3	1	160	1	0	0	0	0	1	0	0	0	3019	1058	37	1	1300	1	CD4	12	6927704	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1344	6927704	126924191	1366	29639										
APOBEC1	339	genome.wustl.edu	37	chr12	7802149	7802149	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggaatcatcctattcatctCcaagccacagaaggatgtat	7	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:7802149C>T	ENST00000229304.4	-	5	725	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	235					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATTCATCTCCAAGCCACAG	0.403																																					Pancreas(135;929 1826 4531 10527 41012)												0													153	141	145					12																	7802149		2203	4300	6503	SO:0001587	stop_gained	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.705G>A	12.37:g.7802149C>T	ENSP00000229304:p.Trp235*		Q9UE64|Q9UM71	Nonsense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.W235*	ENST00000229304.4	37	c.705	CCDS8579.1	12	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030578	0.54790	.	.	ENSG00000111701	ENST00000229304	.	.	.	3.79	3.79	0.43588	.	0.712994	0.11601	N	0.547730	.	.	.	.	.	.	0.20873	N	0.999835	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1561	11.3613	0.49644	0.0:1.0:0.0:0.0	.	.	.	.	X	235	.	ENSP00000229304:W235X	W	-	3	0	APOBEC1	7693416	0.997000	0.39634	0.990000	0.47175	0.246000	0.25737	0.605000	0.24179	2.110000	0.64415	0.591000	0.81541	TGG	APOBEC1	-	NULL		0.403	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC1	HGNC	protein_coding	OTTHUMT00000280523.1	C	NM_001644		7802149	-1	no_errors	ENST00000229304	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	7802149	C	T	7802149	4	4	160	1	0	0	0	0	0	1	0	0	787	856	30	1	9	1	APOBEC1	12	7802149	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	874445	7802149	126049746	1367	29640										
CLEC4A	50856	genome.wustl.edu	37	chr12	8289436	8289436	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcttattttgtggggctctCagatccagaaggtcagcgac	12	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:8289436C>G	ENST00000229332.5	+	5	750	c.503C>G	c.(502-504)tCa>tGa	p.S168*	CLEC4A_ENST00000345999.3_Nonsense_Mutation_p.S96*|CLEC4A_ENST00000360500.3_Nonsense_Mutation_p.S129*|CLEC4A_ENST00000352620.3_Nonsense_Mutation_p.S135*	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GTGGGGCTCTCAGATCCAGAA	0.433																																																	0													101	105	104					12																	8289436		2203	4300	6503	SO:0001587	stop_gained	50856			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.503C>G	12.37:g.8289436C>G	ENSP00000229332:p.Ser168*		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S168*	ENST00000229332.5	37	c.503	CCDS8590.1	12	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768827	0.31320	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	.	.	.	3.98	3.98	0.46160	.	0.000000	0.31821	N	0.007009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.8523	0.52417	0.0:1.0:0.0:0.0	.	.	.	.	X	168;96;135;129	.	ENSP00000229332:S168X	S	+	2	0	CLEC4A	8180703	0.168000	0.22989	0.916000	0.36221	0.105000	0.19272	0.667000	0.25112	2.488000	0.83962	0.650000	0.86243	TCA	CLEC4A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.433	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	C	NM_194450		8289436	1	no_errors	ENST00000229332	ensembl	human	known	70_37	nonsense	SNP	0.960	G	G	8289436	C	G	8289436	4	3	160	1	0	0	0	0	0	1	0	0	3517	838	29	1	521	1	CLEC4A	12	8289436	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	487287	8289436	125562459	1368	29641										
C12orf60	144608	genome.wustl.edu	37	chr12	14975933	14975933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgccaaaatgttcttctttCatgtacaagatcttgcttct	5	10	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:14975933C>T	ENST00000330828.2	+	2	268	c.64C>T	c.(64-66)Cat>Tat	p.H22Y	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	22										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTTCTTCTTTCATGTACAAGA	0.363																																																	0													89	87	88					12																	14975933		2203	4300	6503	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.64C>T	12.37:g.14975933C>T	ENSP00000331691:p.His22Tyr		A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	NULL	p.H22Y	ENST00000330828.2	37	c.64	CCDS8667.1	12	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475517	0.04414	.	.	ENSG00000182993	ENST00000330828	T	0.16457	2.34	5.19	-0.0967	0.13635	.	0.810628	0.10738	N	0.639810	T	0.10680	0.0261	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.32455	-0.9906	10	0.35671	T	0.21	1.9425	3.5037	0.07683	0.1736:0.4296:0.0:0.3968	.	22	Q5U649	CL060_HUMAN	Y	22	ENSP00000331691:H22Y	ENSP00000331691:H22Y	H	+	1	0	C12orf60	14867200	0.004000	0.15560	0.137000	0.22149	0.409000	0.31022	-0.572000	0.05881	0.312000	0.23038	0.561000	0.74099	CAT	C12orf60	-	NULL		0.363	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf60	HGNC	protein_coding	OTTHUMT00000394735.1	C	NM_175874		14975933	1	no_errors	ENST00000330828	ensembl	human	known	70_37	missense	SNP	0.008	T	T	14975933	C	T	14975933	3	4	160	1	0	0	0	0	1	0	0	0	1707	826	29	1	66	1	C12orf60	12	14975933	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6686497	14975933	118875962	1369	29642										
ART4	420	genome.wustl.edu	37	chr12	14993997	14993997	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttgtgaaataatccccttGagttagtttctccataacct	5	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:14993997G>C	ENST00000228936.4	-	2	616	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	79					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TAATCCCCTTGAGTTAGTTTC	0.398																																																	0													103	103	103					12																	14993997		2203	4300	6503	SO:0001583	missense	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.235C>G	12.37:g.14993997G>C	ENSP00000228936:p.Gln79Glu		Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	pfam_ART,prints_ART	p.Q79E	ENST00000228936.4	37	c.235	CCDS8668.1	12	.	.	.	.	.	.	.	.	.	.	G	5.564	0.288871	0.10513	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.07567	3.18;3.18	4.35	3.43	0.39272	.	0.443563	0.26140	N	0.026110	T	0.08268	0.0206	L	0.39245	1.2	0.27491	N	0.952289	B;B	0.31026	0.304;0.304	B;B	0.29353	0.101;0.101	T	0.14254	-1.0479	10	0.49607	T	0.09	-5.2184	12.3886	0.55347	0.0:0.1713:0.8287:0.0	.	79;79	A8K6J7;Q93070	.;NAR4_HUMAN	E	79;62	ENSP00000228936:Q79E;ENSP00000405689:Q62E	ENSP00000228936:Q79E	Q	-	1	0	ART4	14885264	0.116000	0.22171	0.917000	0.36280	0.211000	0.24417	1.673000	0.37534	1.373000	0.46208	0.563000	0.77884	CAA	ART4	-	pfam_ART		0.398	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	G	NM_021071		14993997	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	missense	SNP	0.977	C	C	14993997	G	C	14993997	3	2	160	1	0	0	0	0	1	0	0	0	1000	1299	45	1	717	1	ART4	12	14993997	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18064	14993997	118857898	1370	29643										
IFLTD1	160492	genome.wustl.edu	37	chr12	25699333	25699333	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtaaattggccaacttcttCaagaatcatagaaaagtatt	7	6	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:25699333C>G	ENST00000282881.6	-	3	552	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	IFLTD1_ENST00000413632.2_Missense_Mutation_p.E156Q|IFLTD1_ENST00000539744.1_Missense_Mutation_p.E38Q|IFLTD1_ENST00000445693.1_Missense_Mutation_p.E72Q|IFLTD1_ENST00000458174.2_Missense_Mutation_p.E156Q	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		135					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CCAACTTCTTCAAGAATCATA	0.333																																																	0													90	90	90					12																	25699333		2203	4298	6501	SO:0001583	missense	160492																														ENST00000282881.6:c.403G>C	12.37:g.25699333C>G	ENSP00000282881:p.Glu135Gln		B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.E156Q	ENST00000282881.6	37	c.466	CCDS8704.1	12	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295213	0.23564	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.18174	2.47;2.6;2.44;2.6;2.23	4.75	3.86	0.44501	.	.	.	.	.	T	0.15739	0.0379	L	0.29908	0.895	0.24634	N	0.993603	P;P;P;P	0.41673	0.454;0.759;0.713;0.647	B;B;B;B	0.43575	0.237;0.28;0.424;0.203	T	0.08848	-1.0702	9	0.62326	D	0.03	-15.0884	9.1184	0.36773	0.0:0.8997:0.0:0.1003	.	72;156;156;135	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	Q	135;38;156;72;156;110;110	ENSP00000282881:E135Q;ENSP00000443132:E38Q;ENSP00000407353:E156Q;ENSP00000407043:E72Q;ENSP00000393150:E156Q	ENSP00000282881:E135Q	E	-	1	0	IFLTD1	25590600	0.998000	0.40836	0.998000	0.56505	0.178000	0.23041	1.800000	0.38833	1.353000	0.45828	0.655000	0.94253	GAA	IFLTD1	-	NULL		0.333	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	HGNC	protein_coding	OTTHUMT00000402279.1	C			25699333	-1	no_errors	ENST00000458174	ensembl	human	known	70_37	missense	SNP	0.993	G	G	25699333	C	G	25699333	3	3	160	1	0	0	0	0	1	0	0	0	7550	835	29	1	787	1	IFLTD1	12	25699333	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	10705336	25699333	108152562	1371	29644										
ITPR2	3709	genome.wustl.edu	37	chr12	26709260	26709260	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaaccaacactgagaattCagcctgcatcattgggctga	8	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:26709260C>G	ENST00000381340.3	-	36	5286	c.4870G>C	c.(4870-4872)Gaa>Caa	p.E1624Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1624					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACTGAGAATTCAGCCTGCATC	0.468																																																	0													130	125	127					12																	26709260		2002	4166	6168	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4870G>C	12.37:g.26709260C>G	ENSP00000370744:p.Glu1624Gln		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E1624Q	ENST00000381340.3	37	c.4870	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751489	0.89753	.	.	ENSG00000123104	ENST00000381340	T	0.66460	-0.21	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.85041	2.73	0.80722	D	1	P	0.44521	0.837	P	0.50896	0.653	D	0.83775	0.0222	10	0.87932	D	0	.	18.6621	0.91474	0.0:1.0:0.0:0.0	.	1624	Q14571	ITPR2_HUMAN	Q	1624	ENSP00000370744:E1624Q	ENSP00000370744:E1624Q	E	-	1	0	ITPR2	26600527	1.000000	0.71417	0.782000	0.31804	0.977000	0.68977	7.375000	0.79646	2.404000	0.81709	0.491000	0.48974	GAA	ITPR2	-	superfamily_ARM-type_fold		0.468	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	C	NM_002223		26709260	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	0.997	G	G	26709260	C	G	26709260	3	3	160	1	0	0	0	0	1	0	0	0	7941	835	29	1	3323	1	ITPR2	12	26709260	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1009927	26709260	107142635	1372	29645										
TM7SF3	51768	genome.wustl.edu	37	chr12	27156275	27156275	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagcttcctctggaaagggcCtattgagctcgaagtatcta	10	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:27156275C>G	ENST00000343028.4	-	2	365	c.140G>C	c.(139-141)aGg>aCg	p.R47T	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	47						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGGAAAGGGCCTATTGAGCTC	0.338																																																	0													60	57	58					12																	27156275		2203	4299	6502	SO:0001583	missense	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.140G>C	12.37:g.27156275C>G	ENSP00000342322:p.Arg47Thr		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.R47T	ENST00000343028.4	37	c.140	CCDS8710.1	12	.	.	.	.	.	.	.	.	.	.	C	6.741	0.505436	0.12822	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31247	1.5	5.57	-2.02	0.07388	.	0.671247	0.15957	N	0.236434	T	0.20981	0.0505	L	0.51422	1.61	0.09310	N	1	B	0.31125	0.309	B	0.21917	0.037	T	0.24693	-1.0153	10	0.16420	T	0.52	-5.1386	11.4844	0.50344	0.0:0.4004:0.0:0.5996	.	47	Q9NS93	TM7S3_HUMAN	T	47;26;52	ENSP00000342322:R47T	ENSP00000342322:R47T	R	-	2	0	TM7SF3	27047542	0.000000	0.05858	0.002000	0.10522	0.310000	0.27922	0.182000	0.16900	-0.283000	0.09115	-0.355000	0.07637	AGG	TM7SF3	-	NULL		0.338	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	C	NM_016551		27156275	-1	no_errors	ENST00000343028	ensembl	human	known	70_37	missense	SNP	0.000	G	G	27156275	C	G	27156275	3	3	160	1	0	0	0	0	1	0	0	0	16005	681	24	4	1616	4	TM7SF3	12	27156275	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	447015	27156275	106695620	1373	29646										
STK38L	23012	genome.wustl.edu	37	chr12	27475354	27475354	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggttgactcaacgtggctCtatccccacctacatgaaag	9	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:27475354C>T	ENST00000389032.3	+	14	1530	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	STK38L_ENST00000539577.1_Missense_Mutation_p.S361F	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CAACGTGGCTCTATCCCCACC	0.433																																																	0													113	119	117					12																	27475354		2203	4300	6503	SO:0001583	missense	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1361C>T	12.37:g.27475354C>T	ENSP00000373684:p.Ser454Phe			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S454F	ENST00000389032.3	37	c.1361	CCDS31761.1	12	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817817	0.50633	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.59502	0.26;0.33	4.93	4.93	0.64822	.	0.192685	0.45361	D	0.000371	T	0.46483	0.1395	N	0.14661	0.345	0.53688	D	0.999972	B;B	0.20671	0.047;0.047	B;B	0.27500	0.08;0.049	T	0.47058	-0.9146	10	0.66056	D	0.02	.	18.5305	0.90990	0.0:1.0:0.0:0.0	.	361;454	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	F	454;361	ENSP00000373684:S454F;ENSP00000446386:S361F	ENSP00000373684:S454F	S	+	2	0	STK38L	27366621	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	7.801000	0.85960	2.444000	0.82710	0.460000	0.39030	TCT	STK38L	-	NULL		0.433	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	C	NM_015000		27475354	1	no_errors	ENST00000389032	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27475354	C	T	27475354	3	4	160	1	0	0	0	0	1	0	0	0	15334	913	32	1	1411	1	STK38L	12	27475354	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	319079	27475354	106376541	1374	29647										
CCDC91	55297	genome.wustl.edu	37	chr12	28459678	28459678	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttttttatgtggtttagattCagcaatcaacacacactcat	5	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:28459678C>T	ENST00000545336.1	+	8	690	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.Q91*|CCDC91_ENST00000306172.5_Nonsense_Mutation_p.Q61*|CCDC91_ENST00000381259.1_Nonsense_Mutation_p.Q91*|CCDC91_ENST00000381256.1_Nonsense_Mutation_p.Q91*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	91					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGTTTAGATTCAGCAATCAAC	0.343																																																	0													62	66	65					12																	28459678		2203	4297	6500	SO:0001587	stop_gained	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.271C>T	12.37:g.28459678C>T	ENSP00000438040:p.Gln91*		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Nonsense_Mutation	SNP	NULL	p.Q91*	ENST00000545336.1	37	c.271	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502250	0.64298	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	5.27	4.39	0.52855	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.9394	9.5563	0.39341	0.0:0.9055:0.0:0.0945	.	.	.	.	X	91;91;91;91;91;91;91;61	.	ENSP00000305075:Q61X	Q	+	1	0	CCDC91	28350945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.747000	0.55134	1.445000	0.47624	0.655000	0.94253	CAG	CCDC91	-	NULL		0.343	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	C	NM_018318		28459678	1	no_errors	ENST00000381259	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	28459678	C	T	28459678	4	4	160	1	0	0	0	0	0	1	0	0	2875	827	29	1	285	1	CCDC91	12	28459678	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	984324	28459678	105392217	1375	29648										
LRRK2	120892	genome.wustl.edu	37	chr12	40671955	40671955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatgattacttaaaaaatgtGatgctagagagagcgtgtga	12	3	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:40671955G>A	ENST00000298910.7	+	18	2191	c.2133G>A	c.(2131-2133)gtG>gtA	p.V711V	LRRK2_ENST00000343742.2_Silent_p.V711V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	711					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAAATGTGATGCTAGAGA	0.368																																																	0													143	141	142					12																	40671955		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2133G>A	12.37:g.40671955G>A			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.V711	ENST00000298910.7	37	c.2133	CCDS31774.1	12																																																																																			LRRK2	-	superfamily_ARM-type_fold		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40671955	1	no_errors	ENST00000298910	ensembl	human	known	70_37	silent	SNP	0.009	A	A	40671955	G	A	40671955	2	1	160	1	0	0	0	0	0	0	0	1	9056	1277	45	1		1	LRRK2	12	40671955	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	12212277	40671955	93179940	1376	29649										
CNTN1	1272	genome.wustl.edu	37	chr12	41374753	41374753	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgagaatagaagacattaGagccacttctgtggcactta	9	8	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:41374753G>T	ENST00000551295.2	+	16	1964	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	CNTN1_ENST00000347616.1_Missense_Mutation_p.R616I|CNTN1_ENST00000348761.2_Missense_Mutation_p.R605I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	616	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAGACATTAGAGCCACTTCT	0.438																																																	0													132	134	134					12																	41374753		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1847G>T	12.37:g.41374753G>T	ENSP00000447006:p.Arg616Ile		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R616I	ENST00000551295.2	37	c.1847	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440032	0.63067	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.58060	0.36;0.36;0.36	4.69	4.69	0.59074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.113900	0.64402	D	0.000013	T	0.52484	0.1737	L	0.45581	1.43	0.80722	D	1	P;P	0.39216	0.613;0.664	B;P	0.45538	0.352;0.484	T	0.51787	-0.8661	10	0.41790	T	0.15	.	12.9719	0.58517	0.0797:0.0:0.9203:0.0	.	605;616	Q12860-2;Q12860	.;CNTN1_HUMAN	I	616;616;605	ENSP00000447006:R616I;ENSP00000325660:R616I;ENSP00000261160:R605I	ENSP00000325660:R616I	R	+	2	0	CNTN1	39661020	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.279000	0.43435	2.540000	0.85666	0.655000	0.94253	AGA	CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	G	NM_001843		41374753	1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	0.996	T	T	41374753	G	T	41374753	3	4	160	1	0	0	0	0	1	0	0	0	3645	942	33	3	1905	3	CNTN1	12	41374753	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	702798	41374753	92477142	1377	29650										
PDZRN4	29951	genome.wustl.edu	37	chr12	41966994	41966994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgagcaaggttgtagcgctGaaagcaaggagaaggtttta	14	5	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:41966994G>A	ENST00000402685.2	+	10	2421	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E547K|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E545K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	805							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGTAGCGCTGAAAGCAAGGA	0.517																																																	0													151	153	152					12																	41966994		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2413G>A	12.37:g.41966994G>A	ENSP00000384197:p.Glu805Lys		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E805K	ENST00000402685.2	37	c.2413	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322194	0.41096	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.41400	1.0;1.0;1.0	5.34	5.34	0.76211	.	1.317180	0.05237	N	0.511531	T	0.36771	0.0979	N	0.21194	0.64	0.80722	D	1	P;B;B	0.52842	0.956;0.09;0.041	B;B;B	0.38500	0.275;0.137;0.096	T	0.52419	-0.8578	10	0.31617	T	0.26	-17.8391	19.939	0.97151	0.0:0.0:1.0:0.0	.	805;545;547	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	805;547;545	ENSP00000384197:E805K;ENSP00000439990:E547K;ENSP00000298919:E545K	ENSP00000298919:E545K	E	+	1	0	PDZRN4	40253261	0.991000	0.36638	0.771000	0.31576	0.468000	0.32798	4.449000	0.60034	2.890000	0.99128	0.650000	0.86243	GAA	PDZRN4	-	NULL		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41966994	1	no_errors	ENST00000402685	ensembl	human	known	70_37	missense	SNP	0.998	A	A	41966994	G	A	41966994	3	1	160	1	0	0	0	0	1	0	0	0	11734	1291	45	1	2524	1	PDZRN4	12	41966994	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	592241	41966994	91884901	1378	29651										
ADAMTS20	80070	genome.wustl.edu	37	chr12	43840473	43840473	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accacacactccacatttgtCtatcttggcactggagttta	6	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:43840473C>G	ENST00000389420.3	-	15	2121	c.2122G>C	c.(2122-2124)Gac>Cac	p.D708H	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D708H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	708	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACATTTGTCTATCTTGGCA	0.373																																																	0													193	167	176					12																	43840473		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2122G>C	12.37:g.43840473C>G	ENSP00000374071:p.Asp708His		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D708H	ENST00000389420.3	37	c.2122	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158323	0.78114	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.76839	-1.05;-1.05	5.07	5.07	0.68467	.	0.000000	0.53938	D	0.000050	D	0.93481	0.7920	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95827	0.8855	10	0.87932	D	0	.	19.3353	0.94314	0.0:1.0:0.0:0.0	.	708	P59510	ATS20_HUMAN	H	708	ENSP00000374071:D708H;ENSP00000448341:D708H	ENSP00000374068:D708H	D	-	1	0	ADAMTS20	42126740	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.445000	0.80570	2.750000	0.94351	0.563000	0.77884	GAC	ADAMTS20	-	prints_Peptidase_M12B_ADAM-TS		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43840473	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43840473	C	G	43840473	3	3	160	1	0	0	0	0	1	0	0	0	266	913	32	1	3709	1	ADAMTS20	12	43840473	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1873479	43840473	90011422	1379	29652										
TMEM117	84216	genome.wustl.edu	37	chr12	44605135	44605135	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaaaatcagcaagagctttCtggaagaaaggaaatgttag	12	4	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:44605135C>G	ENST00000266534.3	+	5	700	c.573C>G	c.(571-573)ttC>ttG	p.F191L	TMEM117_ENST00000536799.1_Missense_Mutation_p.F87L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F191L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	191						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGAGCTTTCTGGAAGAAAG	0.393																																																	0													108	108	108					12																	44605135		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.573C>G	12.37:g.44605135C>G	ENSP00000266534:p.Phe191Leu			Missense_Mutation	SNP	NULL	p.F191L	ENST00000266534.3	37	c.573	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867540	0.32977	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.52295	0.67;0.67;0.67	5.92	1.99	0.26369	.	0.092055	0.85682	N	0.000000	T	0.30008	0.0751	N	0.25890	0.77	0.38088	D	0.93686	B;B;B	0.12013	0.005;0.004;0.004	B;B;B	0.13407	0.003;0.009;0.006	T	0.10753	-1.0616	10	0.56958	D	0.05	-12.0011	5.4819	0.16729	0.1271:0.6066:0.0:0.2663	.	191;87;191	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	L	191;191;87	ENSP00000448595:F191L;ENSP00000266534:F191L;ENSP00000445243:F87L	ENSP00000266534:F191L	F	+	3	2	TMEM117	42891402	0.998000	0.40836	1.000000	0.80357	0.586000	0.36452	0.466000	0.22019	0.384000	0.24942	-0.136000	0.14681	TTC	TMEM117	-	NULL		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	C	NM_032256		44605135	1	no_errors	ENST00000266534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44605135	C	G	44605135	3	3	160	1	0	0	0	0	1	0	0	0	16061	912	32	1	587	1	TMEM117	12	44605135	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	764662	44605135	89246760	1380	29653										
RAPGEF3	10411	genome.wustl.edu	37	chr12	48131380	48131380	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctctcgggagaggcgggaGagttcccgctggttgtcaat	16	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:48131380G>C	ENST00000449771.2	-	28	2830	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	RAPGEF3_ENST00000549151.1_Silent_p.L872L|RAPGEF3_ENST00000171000.4_Silent_p.L872L|RAPGEF3_ENST00000405493.2_Silent_p.L872L|RAPGEF3_ENST00000548919.1_Silent_p.L805L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Silent_p.L914L			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	914					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGAGGCGGGAGAGTTCCCGCT	0.647																																																	0													33	32	32					12																	48131380		2203	4300	6503	SO:0001819	synonymous_variant	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2742C>G	12.37:g.48131380G>C			A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L914	ENST00000449771.2	37	c.2742	CCDS41775.1	12																																																																																			RAPGEF3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	G	NM_006105		48131380	-1	no_errors	ENST00000389212	ensembl	human	known	70_37	silent	SNP	0.135	C	C	48131380	G	C	48131380	2	2	160	1	0	0	0	0	0	0	0	1	13075	929	33	1		1	RAPGEF3	12	48131380	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3526245	48131380	85720515	1381	29654										
COL2A1	1280	genome.wustl.edu	37	chr12	48368503	48368503	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaaaccagatgtgtttcttCtccttgctcttgctgctcca	6	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:48368503C>G	ENST00000380518.3	-	52	4193	c.4029G>C	c.(4027-4029)gaG>gaC	p.E1343D	COL2A1_ENST00000337299.6_Missense_Mutation_p.E1274D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1343	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGTGTTTCTTCTCCTTGCTCT	0.498																																																	0													206	194	198					12																	48368503		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4029G>C	12.37:g.48368503C>G	ENSP00000369889:p.Glu1343Asp		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1343D	ENST00000380518.3	37	c.4029	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	9.092	1.001937	0.19121	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90385	-2.66;-2.66	4.93	-3.74	0.04385	Fibrillar collagen, C-terminal (3);	0.535424	0.18577	N	0.137164	T	0.72645	0.3486	N	0.12527	0.23	0.29294	N	0.869182	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63686	-0.6581	10	0.07482	T	0.82	.	5.7961	0.18387	0.0818:0.1279:0.5023:0.2879	.	1274;1343	P02458-1;P02458	.;CO2A1_HUMAN	D	1343;1274;1274	ENSP00000369889:E1343D;ENSP00000338213:E1274D	ENSP00000338213:E1274D	E	-	3	2	COL2A1	46654770	0.011000	0.17503	0.906000	0.35671	0.993000	0.82548	-1.106000	0.03319	-0.321000	0.08627	0.561000	0.74099	GAG	COL2A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.498	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48368503	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	0.951	G	G	48368503	C	G	48368503	3	3	160	1	0	0	0	0	1	0	0	0	3692	912	32	1	446	1	COL2A1	12	48368503	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	237123	48368503	85483392	1382	29655										
COL2A1	1280	genome.wustl.edu	37	chr12	48393822	48393822	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagaggacagtcccagtgtCacagacacagatccggcagg	13	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:48393822C>T	ENST00000380518.3	-	2	336	c.172G>A	c.(172-174)Gac>Aac	p.D58N	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	58	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTCCCAGTGTCACAGACACAG	0.577																																																	0			GRCh37	CD021813	COL2A1	D							62	69	67					12																	48393822		2111	4248	6359	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.172G>A	12.37:g.48393822C>T	ENSP00000369889:p.Asp58Asn		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.D58N	ENST00000380518.3	37	c.172	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510868	0.85389	.	.	ENSG00000139219	ENST00000380518	T	0.72394	-0.65	4.56	4.56	0.56223	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	M	0.66506	2.035	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.84305	0.0507	10	0.66056	D	0.02	.	16.6321	0.85036	0.0:1.0:0.0:0.0	.	58	P02458	CO2A1_HUMAN	N	58	ENSP00000369889:D58N	ENSP00000369889:D58N	D	-	1	0	COL2A1	46680089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.527000	0.85204	0.563000	0.77884	GAC	COL2A1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.577	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48393822	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48393822	C	T	48393822	3	4	160	1	0	0	0	0	1	0	0	0	3692	826	29	1	4503	1	COL2A1	12	48393822	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	25319	48393822	85458073	1383	29656										
MLL2	8085	genome.wustl.edu	37	chr12	49418679	49418679	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggaagagtcgcagcatgtCagcctcttttctcatggcag	12	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49418679C>A	ENST00000301067.7	-	49	15834	c.15835G>T	c.(15835-15837)Gac>Tac	p.D5279Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5279	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGCAGCATGTCAGCCTCTTTT	0.547																																																	0													19	20	20					12																	49418679		2073	4187	6260	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15835G>T	12.37:g.49418679C>A	ENSP00000301067:p.Asp5279Tyr		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D5279Y	ENST00000301067.7	37	c.15835	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467715	0.43839	.	.	ENSG00000167548	ENST00000301067	T	0.43294	0.95	5.38	5.38	0.77491	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.37304	N	0.002152	T	0.54046	0.1834	L	0.38175	1.15	0.37916	D	0.931547	D	0.67145	0.996	P	0.62014	0.897	T	0.59768	-0.7392	10	0.87932	D	0	.	18.2928	0.90136	0.0:1.0:0.0:0.0	.	5279	O14686	MLL2_HUMAN	Y	5279	ENSP00000301067:D5279Y	ENSP00000301067:D5279Y	D	-	1	0	MLL2	47704946	0.995000	0.38212	0.996000	0.52242	0.997000	0.91878	3.294000	0.51787	2.697000	0.92050	0.655000	0.94253	GAC	MLL2	-	pfam_FYrich_C,smart_FYrich_C		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49418679	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.998	A	A	49418679	C	A	49418679	3	1	160	1	0	0	0	0	1	0	0	0	9644	826	29	3	802	3	MLL2	12	49418679	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1024857	49418679	84433216	1384	29657										
RHEBL1	121268	genome.wustl.edu	37	chr12	49459141	49459141	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggcccagcacctgattctCtcgagcagatgactccataa	8	14	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49459141C>G	ENST00000301068.6	-	7	693	c.454G>C	c.(454-456)Gag>Cag	p.E152Q		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	152					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						ACCTGATTCTCTCGAGCAGAT	0.498																																																	0													168	152	157					12																	49459141		2203	4300	6503	SO:0001583	missense	121268			AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.454G>C	12.37:g.49459141C>G	ENSP00000301068:p.Glu152Gln		Q56VH8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E152Q	ENST00000301068.6	37	c.454	CCDS8778.1	12	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682162	0.29872	.	.	ENSG00000167550	ENST00000301068	T	0.80566	-1.39	5.82	3.0	0.34707	Small GTP-binding protein domain (1);	0.332724	0.34268	N	0.004116	T	0.66944	0.2841	L	0.33710	1.025	0.32510	N	0.537701	B	0.20887	0.049	B	0.18263	0.021	T	0.62253	-0.6893	10	0.15952	T	0.53	.	9.3035	0.37861	0.0:0.7671:0.0:0.2329	.	152	Q8TAI7	REBL1_HUMAN	Q	152	ENSP00000301068:E152Q	ENSP00000301068:E152Q	E	-	1	0	RHEBL1	47745408	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	1.564000	0.36375	0.806000	0.34183	0.655000	0.94253	GAG	RHEBL1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.498	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEBL1	HGNC	protein_coding	OTTHUMT00000408969.1	C	NM_144593		49459141	-1	no_errors	ENST00000301068	ensembl	human	known	70_37	missense	SNP	0.995	G	G	49459141	C	G	49459141	3	3	160	1	0	0	0	0	1	0	0	0	13359	922	32	1	105	1	RHEBL1	12	49459141	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	40462	49459141	84392754	1385	29658										
TUBA1C	84790	genome.wustl.edu	37	chr12	49666945	49666945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgaggacatggctgcccttGagaaggattatgaggaggtt	16	5	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49666945G>C	ENST00000301072.6	+	4	1560	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.E499Q	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	429					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GGCTGCCCTTGAGAAGGATTA	0.517																																																	0													128	121	124					12																	49666945		2203	4300	6503	SO:0001583	missense	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1285G>C	12.37:g.49666945G>C	ENSP00000301072:p.Glu429Gln			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E429Q	ENST00000301072.6	37	c.1285	CCDS8782.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.272803|3.272803	0.59649|0.59649	.|.	.|.	ENSG00000167553|ENSG00000167553	ENST00000541364;ENST00000301072|ENST00000321665	D;D|.	0.84223|.	-1.82;-1.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78855|0.78855	0.4349|0.4349	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.83275|.	0.973;0.996|.	T|T	0.82053|0.82053	-0.0648|-0.0648	10|6	0.87932|0.87932	D|D	0|0	.|.	17.7706|17.7706	0.88491|0.88491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	499;429|.	F5H5D3;Q9BQE3|.	.;TBA1C_HUMAN|.	Q|F	499;429|270	ENSP00000443475:E499Q;ENSP00000301072:E429Q|.	ENSP00000301072:E429Q|ENSP00000322707:L270F	E|L	+|+	1|3	0|2	TUBA1C|TUBA1C	47953212|47953212	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.666000|2.666000	0.90696|0.90696	0.556000|0.556000	0.70494|0.70494	GAG|TTG	TUBA1C	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin		0.517	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	G	NM_032704		49666945	1	no_errors	ENST00000301072	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49666945	G	C	49666945	3	2	160	1	0	0	0	0	1	0	0	0	16776	1291	45	1	1299	1	TUBA1C	12	49666945	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	207804	49666945	84184950	1386	29659										
PRPH	5630	genome.wustl.edu	37	chr12	49689217	49689217	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcctgccctcggagcgcctCgacttctccatggccgaggc	12	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49689217C>G	ENST00000257860.4	+	1	1733	c.234C>G	c.(232-234)ctC>ctG	p.L78L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CGGAGCGCCTCGACTTCTCCA	0.701																																																	0													10	10	10					12																	49689217		2184	4283	6467	SO:0001819	synonymous_variant	5630				CCDS8783.1	12q12-q13	2013-01-16						"Intermediate filaments type III"	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.234C>G	12.37:g.49689217C>G			Q5TFH5|Q6DK65	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.L78	ENST00000257860.4	37	c.234	CCDS8783.1	12																																																																																			PRPH	-	pfam_Intermed_filament_DNA-bd		0.701	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1	C	NM_006262		49689217	1	no_errors	ENST00000257860	ensembl	human	known	70_37	silent	SNP	0.972	G	G	49689217	C	G	49689217	2	3	160	1	0	0	0	0	0	0	0	1	12603	871	31	1		1	PRPH	12	49689217	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	22272	49689217	84162678	1387	29660										
TROAP	10024	genome.wustl.edu	37	chr12	49717669	49717669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcaatattcaacgccccctCgttgattcagcaggccccag	7	16	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49717669C>T	ENST00000257909.3	+	3	262	c.186C>T	c.(184-186)ctC>ctT	p.L62L	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Silent_p.L62L|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_Silent_p.L62L|TROAP_ENST00000380327.5_Silent_p.L62L|TROAP_ENST00000548311.1_Silent_p.L62L|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000549534.1_3'UTR	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	62					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AACGCCCCCTCGTTGATTCAG	0.562																																																	0													75	78	77					12																	49717669		2203	4300	6503	SO:0001819	synonymous_variant	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.186C>T	12.37:g.49717669C>T			F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	NULL	p.L62	ENST00000257909.3	37	c.186	CCDS8784.1	12																																																																																			TROAP	-	NULL		0.562	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	C	NM_005480		49717669	1	no_errors	ENST00000257909	ensembl	human	known	70_37	silent	SNP	0.000	T	T	49717669	C	T	49717669	2	4	160	1	0	0	0	0	0	0	0	1	16606	871	31	1		1	TROAP	12	49717669	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	28452	49717669	84134226	1388	29661										
TROAP	10024	genome.wustl.edu	37	chr12	49720471	49720471	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacttcagtgagccaggcctCaggattgctcctggagaccc	12	13	2	2	rs373717292		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:49720471C>G	ENST00000257909.3	+	7	813	c.737C>G	c.(736-738)tCa>tGa	p.S246*	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Nonsense_Mutation_p.S246*|TROAP_ENST00000547923.1_5'UTR	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	246					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGCCAGGCCTCAGGATTGCTC	0.522																																																	0													58	42	47					12																	49720471		2200	4289	6489	SO:0001587	stop_gained	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.737C>G	12.37:g.49720471C>G	ENSP00000257909:p.Ser246*		F8VSF9|Q6PJU7|Q8N5B2	Nonsense_Mutation	SNP	NULL	p.S246*	ENST00000257909.3	37	c.737	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.875570	0.97055	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.24	5.24	0.73138	.	0.468807	0.18351	N	0.143862	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.2453	14.5152	0.67814	0.0:1.0:0.0:0.0	.	.	.	.	X	246;129;246;246	.	ENSP00000257909:S246X	S	+	2	0	TROAP	48006738	0.991000	0.36638	0.977000	0.42913	0.978000	0.69477	3.233000	0.51311	2.884000	0.98904	0.655000	0.94253	TCA	TROAP	-	NULL		0.522	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	C	NM_005480		49720471	1	no_errors	ENST00000257909	ensembl	human	known	70_37	nonsense	SNP	0.988	G	G	49720471	C	G	49720471	4	3	160	1	0	0	0	0	0	1	0	0	16606	838	29	1	861	1	TROAP	12	49720471	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2802	49720471	84131424	1389	29662										
PRPF40B	25766	genome.wustl.edu	37	chr12	50028990	50028990	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggccaaagaggccaagcaGaccctgcagcatttcctgga	12	12	0	2	rs202229709		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:50028990G>A	ENST00000380281.1	+	12	1108	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	PRPF40B_ENST00000548825.2_Silent_p.Q370Q|PRPF40B_ENST00000261897.1_Silent_p.Q342Q|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	348	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGGCCAAGCAGACCCTGCAGC	0.597																																																	0													57	56	56					12																	50028990		2203	4300	6503	SO:0001819	synonymous_variant	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1044G>A	12.37:g.50028990G>A			O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.Q348	ENST00000380281.1	37	c.1044		12																																																																																			PRPF40B	-	superfamily_FF_domain		0.597	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50028990	1	no_errors	ENST00000380281	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50028990	G	A	50028990	2	1	160	1	0	0	0	0	0	0	0	1	12599	933	33	1		1	PRPF40B	12	50028990	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	308519	50028990	83822905	1390	29663										
FAIM2	23017	genome.wustl.edu	37	chr12	50264376	50264376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagggctccaaaaatatactCctcagggctcagcgagtggc	12	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:50264376C>T	ENST00000320634.3	-	12	956	c.862G>A	c.(862-864)Gag>Aag	p.E288K	FAIM2_ENST00000550890.1_Missense_Mutation_p.E242K	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	288					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AAAATATACTCCTCAGGGCTC	0.522																																																	0													92	81	85					12																	50264376		2203	4300	6503	SO:0001583	missense	23017			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.862G>A	12.37:g.50264376C>T	ENSP00000321951:p.Glu288Lys		A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.E288K	ENST00000320634.3	37	c.862	CCDS8791.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.316177|5.316177	0.95655|0.95655	.|.	.|.	ENSG00000135472|ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669|ENST00000552863	T;T;T|.	0.48201|.	0.82;0.82;0.82|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87676|0.87676	0.6237|0.6237	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.91868|0.91868	0.5505|0.5505	10|5	0.87932|.	D|.	0|.	-15.3519|-15.3519	15.5214|15.5214	0.75869|0.75869	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288|.	Q9BWQ8|.	FAIM2_HUMAN|.	K|E	288;242;288;246|138	ENSP00000321951:E288K;ENSP00000450132:E242K;ENSP00000446771:E246K|.	ENSP00000321951:E288K|.	E|G	-|-	1|2	0|0	FAIM2|FAIM2	48550643|48550643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.783000|7.783000	0.85696|0.85696	2.266000|2.266000	0.75297|0.75297	0.563000|0.563000	0.77884|0.77884	GAG|GGA	FAIM2	-	pfam_Bax_inhibitor_1-related		0.522	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	HGNC	protein_coding	OTTHUMT00000405984.1	C	NM_012306		50264376	-1	no_errors	ENST00000320634	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50264376	C	T	50264376	3	4	160	1	0	0	0	0	1	0	0	0	5391	864	30	1	92	1	FAIM2	12	50264376	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	235386	50264376	83587519	1391	29664										
AQP5	362	genome.wustl.edu	37	chr12	50357352	50357352	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctggcactctgcatcttCgcctccactgactcccgccg	8	19	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:50357352C>T	ENST00000293599.6	+	2	589	c.441C>T	c.(439-441)ttC>ttT	p.F147F	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	147					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TCTGCATCTTCGCCTCCACTG	0.627																																																	0													116	90	99					12																	50357352		2203	4300	6503	SO:0001819	synonymous_variant	362			U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.441C>T	12.37:g.50357352C>T			Q6FGW8	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.F147	ENST00000293599.6	37	c.441	CCDS8793.1	12																																																																																			AQP5	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.627	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	HGNC	protein_coding	OTTHUMT00000405542.2	C	NM_001651		50357352	1	no_errors	ENST00000293599	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50357352	C	T	50357352	2	4	160	1	0	0	0	0	0	0	0	1	829	883	31	1		1	AQP5	12	50357352	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	92976	50357352	83494543	1392	29665										
DIP2B	57609	genome.wustl.edu	37	chr12	51064986	51064986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagacacatcttcggcctctGaggatgagggctctctgaga	12	11	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:51064986G>A	ENST00000301180.5	+	5	479	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	149	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCGGCCTCTGAGGATGAGGG	0.473																																																	0													96	85	89					12																	51064986		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.445G>A	12.37:g.51064986G>A	ENSP00000301180:p.Glu149Lys		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E149K	ENST00000301180.5	37	c.445	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973444	0.74246	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.25749	1.78	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	M	0.69358	2.11	0.80722	D	1	P;D	0.53885	0.761;0.963	B;P	0.50082	0.317;0.63	T	0.05099	-1.0906	10	0.22109	T	0.4	-19.7893	19.3554	0.94410	0.0:0.0:1.0:0.0	.	149;159	Q9P265;E9PHD6	DIP2B_HUMAN;.	K	159;149	ENSP00000301180:E149K	ENSP00000301180:E149K	E	+	1	0	DIP2B	49351253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.809000	0.96659	0.655000	0.94253	GAG	DIP2B	-	NULL		0.473	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51064986	1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51064986	G	A	51064986	3	1	160	1	0	0	0	0	1	0	0	0	4538	1291	45	1	463	1	DIP2B	12	51064986	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	707634	51064986	82786909	1393	29666										
DIP2B	57609	genome.wustl.edu	37	chr12	51065063	51065063	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttacagaatgctgagtcctgGatcaaccgttcaattcaggg	10	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:51065063G>C	ENST00000301180.5	+	5	556	c.522G>C	c.(520-522)tgG>tgC	p.W174C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	174	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGAGTCCTGGATCAACCGTT	0.532																																																	0													134	115	122					12																	51065063		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.522G>C	12.37:g.51065063G>C	ENSP00000301180:p.Trp174Cys		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.W174C	ENST00000301180.5	37	c.522	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193971	0.78902	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.24538	1.85	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.46331	-0.9199	10	0.38643	T	0.18	-9.1017	13.898	0.63785	0.0729:0.0:0.9271:0.0	.	174;184	Q9P265;E9PHD6	DIP2B_HUMAN;.	C	184;174	ENSP00000301180:W174C	ENSP00000301180:W174C	W	+	3	0	DIP2B	49351330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.653000	0.98506	1.469000	0.48083	0.586000	0.80456	TGG	DIP2B	-	NULL		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51065063	1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51065063	G	C	51065063	3	2	160	1	0	0	0	0	1	0	0	0	4538	1183	41	1	540	1	DIP2B	12	51065063	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	77	51065063	82786832	1394	29667										
KRT85	3891	genome.wustl.edu	37	chr12	52756725	52756725	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttggtgcggcgcagggtCtccccatgcctgatcaccgt	12	15	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52756725C>G	ENST00000257901.3	-	6	1065	c.990G>C	c.(988-990)gaG>gaC	p.E330D	KRT85_ENST00000544265.1_Missense_Mutation_p.E118D	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	330	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGCAGGGTCTCCCCATGCC	0.602																																																	0													132	106	115					12																	52756725		2203	4298	6501	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.990G>C	12.37:g.52756725C>G	ENSP00000257901:p.Glu330Asp		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E330D	ENST00000257901.3	37	c.990	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053248	0.19907	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.88896	-2.44;-1.25	4.65	3.73	0.42828	Filament (1);	0.000000	0.64402	D	0.000010	T	0.75140	0.3809	L	0.31371	0.925	0.23510	N	0.997525	B	0.14012	0.009	B	0.20184	0.028	T	0.58994	-0.7537	10	0.02654	T	1	.	2.3976	0.04394	0.1409:0.4423:0.2602:0.1566	.	330	P78386	KRT85_HUMAN	D	330;118	ENSP00000257901:E330D;ENSP00000440240:E118D	ENSP00000257901:E330D	E	-	3	2	KRT85	51042992	0.505000	0.26131	1.000000	0.80357	0.973000	0.67179	0.081000	0.14823	2.418000	0.82041	0.555000	0.69702	GAG	KRT85	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.602	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	C	NM_002283		52756725	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52756725	C	G	52756725	3	3	160	1	0	0	0	0	1	0	0	0	8519	912	32	1	549	1	KRT85	12	52756725	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1691662	52756725	81095170	1395	29668										
KRT82	3888	genome.wustl.edu	37	chr12	52793840	52793840	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcatactgcgccttgatctCagcgatgatgccgtccacgt	10	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52793840C>G	ENST00000257974.2	-	5	948	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	291	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCCTTGATCTCAGCGATGATG	0.617																																																	0													109	91	97					12																	52793840		2203	4300	6503	SO:0001583	missense	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.871G>C	12.37:g.52793840C>G	ENSP00000257974:p.Glu291Gln			Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.E291Q	ENST00000257974.2	37	c.871	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736308	0.49045	.	.	ENSG00000161850	ENST00000257974	D	0.92199	-2.99	5.18	4.28	0.50868	Filament (1);	0.269409	0.25944	N	0.027298	D	0.92306	0.7559	M	0.84082	2.675	0.39566	D	0.969209	B	0.26635	0.155	B	0.32583	0.148	D	0.91663	0.5344	10	0.72032	D	0.01	.	11.0869	0.48093	0.0:0.7927:0.1351:0.0722	.	291	Q9NSB4	KRT82_HUMAN	Q	291	ENSP00000257974:E291Q	ENSP00000257974:E291Q	E	-	1	0	KRT82	51080107	0.889000	0.30405	0.848000	0.33437	0.366000	0.29705	2.084000	0.41625	1.316000	0.45131	0.561000	0.74099	GAG	KRT82	-	pfam_F,prints_Keratin_I		0.617	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	C	NM_033033		52793840	-1	no_errors	ENST00000257974	ensembl	human	known	70_37	missense	SNP	0.999	G	G	52793840	C	G	52793840	3	3	160	1	0	0	0	0	1	0	0	0	8516	835	29	1	690	1	KRT82	12	52793840	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	37115	52793840	81058055	1396	29669										
KRT72	140807	genome.wustl.edu	37	chr12	52980737	52980737	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagatacttacagatgctCacagaatttggatattcgcc	8	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52980737C>G	ENST00000537672.2	-	8	1348	c.1338G>C	c.(1336-1338)gtG>gtC	p.V446V	KRT72_ENST00000293745.2_Silent_p.V446V|KRT72_ENST00000398066.3_Silent_p.V258V|KRT72_ENST00000354310.4_Silent_p.V404V	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	446	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TACAGATGCTCACAGAATTTG	0.438																																																	0													117	107	110					12																	52980737		2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1338G>C	12.37:g.52980737C>G			B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V446	ENST00000537672.2	37	c.1338	CCDS8833.1	12																																																																																			KRT72	-	NULL		0.438	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	C	NM_080747		52980737	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	0.998	G	G	52980737	C	G	52980737	2	3	160	1	0	0	0	0	0	0	0	1	8505	813	29	1		1	KRT72	12	52980737	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	186897	52980737	80871158	1397	29670										
KRT72	140807	genome.wustl.edu	37	chr12	52981579	52981579	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcttggcccgggcatctttCagggcgcagtccccccgctg	13	16	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:52981579C>T	ENST00000537672.2	-	7	1156	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	KRT72_ENST00000293745.2_Silent_p.L382L|KRT72_ENST00000398066.3_Silent_p.L194L|KRT72_ENST00000354310.4_Silent_p.L340L	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	382	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGGCATCTTTCAGGGCGCAGT	0.642																																																	0													58	55	56					12																	52981579		2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1146G>A	12.37:g.52981579C>T			B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L382	ENST00000537672.2	37	c.1146	CCDS8833.1	12																																																																																			KRT72	-	pfam_F,prints_Keratin_II		0.642	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	C	NM_080747		52981579	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	0.997	T	T	52981579	C	T	52981579	2	4	160	1	0	0	0	0	0	0	0	1	8505	813	29	1		1	KRT72	12	52981579	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	842	52981579	80870316	1398	29671										
KRT1	3848	genome.wustl.edu	37	chr12	53072464	53072464	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggctctaaattatgggttCtagtggaggtatctacctgc	12	7	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53072464C>T	ENST00000252244.3	-	2	726	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	223	Linker 1.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ATTATGGGTTCTAGTGGAGGT	0.468																																																	0													117	107	111					12																	53072464		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.668G>A	12.37:g.53072464C>T	ENSP00000252244:p.Arg223Lys		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R223K	ENST00000252244.3	37	c.668	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728602	0.15507	.	.	ENSG00000167768	ENST00000252244	T	0.74842	-0.88	4.78	2.91	0.33838	Filament (1);	.	.	.	.	T	0.72078	0.3416	L	0.58669	1.825	0.09310	N	1	P	0.35527	0.507	B	0.43103	0.408	T	0.57957	-0.7721	9	0.21014	T	0.42	.	8.8302	0.35080	0.0:0.6123:0.3048:0.0829	.	223	P04264	K2C1_HUMAN	K	223	ENSP00000252244:R223K	ENSP00000252244:R223K	R	-	2	0	KRT1	51358731	0.000000	0.05858	0.005000	0.12908	0.073000	0.16967	-0.319000	0.08039	0.530000	0.28619	0.643000	0.83706	AGA	KRT1	-	pfam_F		0.468	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	C	NM_006121		53072464	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	0.049	T	T	53072464	C	T	53072464	3	4	160	1	0	0	0	0	1	0	0	0	8467	913	32	1	1298	1	KRT1	12	53072464	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	90885	53072464	80779431	1399	29672										
KRT76	51350	genome.wustl.edu	37	chr12	53162761	53162761	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccactgccgctgccgccactGactccatagccactgctgct	8	19	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53162761G>A	ENST00000332411.2	-	9	1706	c.1653C>T	c.(1651-1653)gtC>gtT	p.V551V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	551	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						tgccgccactgactccatagc	0.647																																																	0													16	12	14					12																	53162761		2127	4160	6287	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1653C>T	12.37:g.53162761G>A			B4DRR3|Q7Z795	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.V551	ENST00000332411.2	37	c.1653	CCDS8838.1	12																																																																																			KRT76	-	NULL		0.647	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	G	NM_015848		53162761	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	silent	SNP	0.008	A	A	53162761	G	A	53162761	2	1	160	1	0	0	0	0	0	0	0	1	8509	1277	45	1		1	KRT76	12	53162761	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	90297	53162761	80689134	1400	29673										
KRT76	51350	genome.wustl.edu	37	chr12	53162858	53162858	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaactccacggctactgccaGagctgccacttgtgctggtg	11	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53162858G>C	ENST00000332411.2	-	9	1609	c.1556C>G	c.(1555-1557)tCt>tGt	p.S519C		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	519	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTACTGCCAGAGCTGCCACT	0.562																																																	0													17	15	16					12																	53162858		1956	3766	5722	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1556C>G	12.37:g.53162858G>C	ENSP00000330101:p.Ser519Cys		B4DRR3|Q7Z795	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.S519C	ENST00000332411.2	37	c.1556	CCDS8838.1	12	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164301	0.06502	.	.	ENSG00000185069	ENST00000332411	D	0.82984	-1.67	3.92	0.888	0.19206	.	.	.	.	.	T	0.60881	0.2303	N	0.08118	0	0.24885	N	0.992204	P	0.40000	0.698	B	0.34038	0.174	T	0.54309	-0.8313	9	0.46703	T	0.11	.	5.4389	0.16496	0.1161:0.4095:0.4743:0.0	.	519	Q01546	K22O_HUMAN	C	519	ENSP00000330101:S519C	ENSP00000330101:S519C	S	-	2	0	KRT76	51449125	0.000000	0.05858	0.874000	0.34290	0.073000	0.16967	0.500000	0.22562	0.389000	0.25086	-0.302000	0.09304	TCT	KRT76	-	NULL		0.562	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	G	NM_015848		53162858	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	missense	SNP	0.553	C	C	53162858	G	C	53162858	3	2	160	1	0	0	0	0	1	0	0	0	8509	942	33	1	364	1	KRT76	12	53162858	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	97	53162858	80689037	1401	29674										
RARG	5916	genome.wustl.edu	37	chr12	53607434	53607434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcagggtcagcccgtcggaGaaggtcatggtgtcctgctc	14	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53607434G>C	ENST00000425354.2	-	8	1351	c.864C>G	c.(862-864)ttC>ttG	p.F288L	RARG_ENST00000394426.1_Missense_Mutation_p.F288L|RARG_ENST00000338561.5_Missense_Mutation_p.F277L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.F216L|RARG_ENST00000543726.1_Missense_Mutation_p.F266L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	288	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCCCGTCGGAGAAGGTCATGG	0.622											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106	94	98					12																	53607434		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.864C>G	12.37:g.53607434G>C	ENSP00000388510:p.Phe288Leu	993	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.F288L	ENST00000425354.2	37	c.864	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700838	0.48307	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	L	0.52126	1.63	0.58432	D	0.999999	P;D;D;D	0.89917	0.93;0.998;0.999;1.0	P;D;D;D	0.85130	0.713;0.992;0.997;0.995	D	0.93995	0.7270	10	0.02654	T	1	.	17.3465	0.87311	0.0:0.0:1.0:0.0	.	325;266;288;277	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	L	288;288;50;216;277;266;325	ENSP00000388510:F288L;ENSP00000377947:F288L;ENSP00000332695:F216L;ENSP00000343698:F277L;ENSP00000444335:F266L	ENSP00000332695:F216L	F	-	3	2	RARG	51893701	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.914000	0.48797	2.466000	0.83321	0.313000	0.20887	TTC	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4		0.622	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53607434	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53607434	G	C	53607434	3	2	160	1	0	0	0	0	1	0	0	0	13084	933	33	1	512	1	RARG	12	53607434	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	444576	53607434	80244461	1402	29675										
RARG	5916	genome.wustl.edu	37	chr12	53608258	53608258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttgcccagctggcagagcGaggggaaagtctcctgatgg	15	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53608258G>A	ENST00000425354.2	-	6	1095	c.608C>T	c.(607-609)tCg>tTg	p.S203L	RARG_ENST00000394426.1_Missense_Mutation_p.S203L|RARG_ENST00000338561.5_Missense_Mutation_p.S192L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.S131L|RARG_ENST00000543726.1_Missense_Mutation_p.S181L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	203	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTGGCAGAGCGAGGGGAAAGT	0.567																																																	0													158	143	148					12																	53608258		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.608C>T	12.37:g.53608258G>A	ENSP00000388510:p.Ser203Leu		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S203L	ENST00000425354.2	37	c.608	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557714	0.65425	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.84	4.84	0.62591	Nuclear hormone receptor, ligand-binding (2);	0.065190	0.64402	D	0.000005	T	0.64080	0.2566	M	0.71206	2.165	0.80722	D	1	D;P;D;B	0.89917	0.965;0.756;1.0;0.379	P;B;D;B	0.79784	0.451;0.185;0.993;0.048	T	0.64914	-0.6295	10	0.51188	T	0.08	.	17.2556	0.87055	0.0:0.0:1.0:0.0	.	240;181;203;192	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	L	203;203;131;192;181;240	ENSP00000388510:S203L;ENSP00000377947:S203L;ENSP00000332695:S131L;ENSP00000343698:S192L;ENSP00000444335:S181L	ENSP00000332695:S131L	S	-	2	0	RARG	51894525	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	9.506000	0.97992	2.688000	0.91661	0.563000	0.77884	TCG	RARG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53608258	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	0.999	A	A	53608258	G	A	53608258	3	1	160	1	0	0	0	0	1	0	0	0	13084	1059	37	1	776	1	RARG	12	53608258	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	824	53608258	80243637	1403	29676										
ESPL1	9700	genome.wustl.edu	37	chr12	53663682	53663682	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagcttctgatcaaggcatCagctgtcctgagcaagagta	10	10	3	3	rs566763422		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53663682C>T	ENST00000257934.4	+	3	1047	c.956C>T	c.(955-957)tCa>tTa	p.S319L	ESPL1_ENST00000552462.1_Missense_Mutation_p.S319L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	319					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATCAAGGCATCAGCTGTCCTG	0.562													C|||	1	0.000199681	0	0	5008	,	,		19942	0		0	False		,,,				2504	0.001				Colon(53;1069 1201 2587 5382)												0													91	81	84					12																	53663682		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.956C>T	12.37:g.53663682C>T	ENSP00000257934:p.Ser319Leu			Missense_Mutation	SNP	pfam_Peptidase_C50	p.S319L	ENST00000257934.4	37	c.956	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598719	0.28445	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.11930	2.73;2.73	5.29	1.28	0.21552	.	0.917272	0.09400	N	0.807351	T	0.11750	0.0286	L	0.51422	1.61	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.37056	-0.9722	9	.	.	.	.	3.9638	0.09423	0.1565:0.5066:0.0:0.3369	.	319	Q14674	ESPL1_HUMAN	L	319	ENSP00000257934:S319L;ENSP00000449831:S319L	.	S	+	2	0	ESPL1	51949949	0.003000	0.15002	0.519000	0.27824	0.781000	0.44180	0.918000	0.28678	0.387000	0.25024	-0.258000	0.10820	TCA	ESPL1	-	NULL		0.562	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53663682	1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	0.026	T	T	53663682	C	T	53663682	3	4	160	1	0	0	0	0	1	0	0	0	5265	838	29	1	962	1	ESPL1	12	53663682	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	55424	53663682	80188213	1404	29677										
ESPL1	9700	genome.wustl.edu	37	chr12	53680360	53680360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcacaaaactaggtggcctCagctgctgtactacccaact	7	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53680360C>T	ENST00000257934.4	+	18	3931	c.3840C>T	c.(3838-3840)ctC>ctT	p.L1280L	ESPL1_ENST00000552462.1_Silent_p.L1280L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1280					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TAGGTGGCCTCAGCTGCTGTA	0.547																																					Colon(53;1069 1201 2587 5382)												0													69	73	72					12																	53680360		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3840C>T	12.37:g.53680360C>T				Silent	SNP	pfam_Peptidase_C50	p.L1280	ENST00000257934.4	37	c.3840	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53680360	1	no_errors	ENST00000257934	ensembl	human	known	70_37	silent	SNP	0.941	T	T	53680360	C	T	53680360	2	4	160	1	0	0	0	0	0	0	0	1	5265	813	29	1		1	ESPL1	12	53680360	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	16678	53680360	80171535	1405	29678										
AAAS	8086	genome.wustl.edu	37	chr12	53702789	53702789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacctctcacaagtccacatCtgggcctcccagactctgag	7	17	3	2	rs377673792		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53702789C>T	ENST00000209873.4	-	10	1116	c.951G>A	c.(949-951)caG>caA	p.Q317Q	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000550286.1_Silent_p.Q193Q|AAAS_ENST00000394384.3_Silent_p.Q284Q	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	317					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AAGTCCACATCTGGGCCTCCC	0.532																																																	0													149	150	149					12																	53702789		2203	4300	6503	SO:0001819	synonymous_variant	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.951G>A	12.37:g.53702789C>T			Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q317	ENST00000209873.4	37	c.951	CCDS8856.1	12																																																																																			AAAS	-	pfscan_WD40_repeat_dom		0.532	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	C			53702789	-1	no_errors	ENST00000209873	ensembl	human	known	70_37	silent	SNP	1.000	T	T	53702789	C	T	53702789	2	4	160	1	0	0	0	0	0	0	0	1	8	912	32	1		1	AAAS	12	53702789	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	22429	53702789	80149106	1406	29679										
AMHR2	269	genome.wustl.edu	37	chr12	53823407	53823407	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggcccagctgccatcatgGaagtgagttctctggataac	11	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:53823407G>T	ENST00000257863.4	+	8	1218	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	AMHR2_ENST00000550311.1_Nonsense_Mutation_p.E380*|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.E380*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.E380K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGCCATCATGGAAGTGAGTTC	0.562																																																	1	Substitution - Missense(1)	breast(1)											62	49	54					12																	53823407		2203	4300	6503	SO:0001587	stop_gained	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1138G>T	12.37:g.53823407G>T	ENSP00000257863:p.Glu380*		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.E380*	ENST00000257863.4	37	c.1138	CCDS8858.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871028	0.91587	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	.	.	.	4.99	4.99	0.66335	.	0.000000	0.38492	N	0.001673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.98	0.64299	0.0:0.0:1.0:0.0	.	.	.	.	X	380	.	ENSP00000257863:E380X	E	+	1	0	AMHR2	52109674	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.170000	0.42443	2.769000	0.95229	0.563000	0.77884	GAA	AMHR2	-	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,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom		0.562	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	G	NM_020547		53823407	1	no_errors	ENST00000257863	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	53823407	G	T	53823407	4	4	160	1	0	0	0	0	0	1	0	0	573	1175	41	3	1168	3	AMHR2	12	53823407	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	120618	53823407	80028488	1407	29680										
CALCOCO1	57658	genome.wustl.edu	37	chr12	54118528	54118528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcccgaacacaggcagcctCcacctgtgaaagcccaaggt	9	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:54118528C>T	ENST00000550804.1	-	3	220	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E54K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E54K|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E54K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	54	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGGCAGCCTCCACCTGTGAA	0.517																																																	0													48	40	43					12																	54118528		2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.160G>A	12.37:g.54118528C>T	ENSP00000449960:p.Glu54Lys		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.E54K	ENST00000550804.1	37	c.160	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906239	0.72868	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.53	5.53	0.82687	.	0.000000	0.42964	D	0.000627	T	0.20577	0.0495	N	0.22421	0.69	0.45390	D	0.998376	P;D;P;D;P	0.63046	0.828;0.992;0.885;0.99;0.906	P;P;B;P;P	0.62885	0.542;0.908;0.406;0.794;0.542	T	0.00926	-1.1512	10	0.66056	D	0.02	-20.2859	18.6183	0.91312	0.0:1.0:0.0:0.0	.	54;54;54;54;54	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	K	54	ENSP00000397189:E54K;ENSP00000262059:E54K;ENSP00000447647:E54K;ENSP00000449960:E54K;ENSP00000450083:E54K;ENSP00000448621:E54K;ENSP00000447117:E54K;ENSP00000449058:E54K;ENSP00000446820:E54K;ENSP00000448026:E54K;ENSP00000450012:E54K;ENSP00000449796:E54K	ENSP00000262059:E54K	E	-	1	0	CALCOCO1	52404795	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	5.483000	0.66838	2.777000	0.95525	0.655000	0.94253	GAG	CALCOCO1	-	pfam_CoCoA		0.517	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54118528	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54118528	C	T	54118528	3	4	160	1	0	0	0	0	1	0	0	0	2582	864	30	1	1967	1	CALCOCO1	12	54118528	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	295121	54118528	79733367	1408	29681										
HOXC6	3223	genome.wustl.edu	37	chr12	54422601	54422601	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggacataacacacagacctCaatcgctcaggattttagtt	7	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:54422601C>G	ENST00000243108.4	+	1	460	c.296C>G	c.(295-297)tCa>tGa	p.S99*	HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000394331.3_Nonsense_Mutation_p.S17*|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	99					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACACAGACCTCAATCGCTCAG	0.498																																																	0													132	128	129					12																	54422601		2203	4300	6503	SO:0001587	stop_gained	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"Homeoboxes / ANTP class : HOXL subclass"	5128	protein-coding gene	gene with protein product		142972	"homeo box C6"	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.296C>G	12.37:g.54422601C>G	ENSP00000243108:p.Ser99*		B2RBV2|Q6DK09	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S99*	ENST00000243108.4	37	c.296	CCDS8871.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196063	0.78902	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	.	.	.	5.65	5.65	0.86999	.	0.123729	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.6545	0.91445	0.0:1.0:0.0:0.0	.	.	.	.	X	17;17;17;99	.	ENSP00000243108:S99X	S	+	2	0	HOXC6	52708868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.686000	0.68211	2.941000	0.99782	0.655000	0.94253	TCA	HOXC6	-	NULL		0.498	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC6	HGNC	protein_coding	OTTHUMT00000358943.2	C			54422601	1	no_errors	ENST00000243108	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	54422601	C	G	54422601	4	3	160	1	0	0	0	0	0	1	0	0	7335	838	29	1	298	1	HOXC6	12	54422601	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	304073	54422601	79429294	1409	29682										
PDE1B	5153	genome.wustl.edu	37	chr12	54967164	54967164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgtgccatcgtgtacaatGatcgttcagtgctggagaat	11	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:54967164G>C	ENST00000243052.3	+	9	1298	c.862G>C	c.(862-864)Gat>Cat	p.D288H	PDE1B_ENST00000538346.1_Missense_Mutation_p.D247H|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.D268H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	288	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CGTGTACAATGATCGTTCAGT	0.498																																																	0													151	135	140					12																	54967164		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.862G>C	12.37:g.54967164G>C	ENSP00000243052:p.Asp288His		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.D288H	ENST00000243052.3	37	c.862	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052968	0.75960	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.82984	-1.67;-1.67;-1.67	4.59	4.59	0.56863	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96799	0.9588	10	0.87932	D	0	.	15.301	0.73952	0.0:0.0:1.0:0.0	.	268;288	Q01064-2;Q01064	.;PDE1B_HUMAN	H	288;247;268	ENSP00000243052:D288H;ENSP00000442559:D247H;ENSP00000448519:D268H	ENSP00000243052:D288H	D	+	1	0	PDE1B	53253431	1.000000	0.71417	0.618000	0.29105	0.771000	0.43674	9.516000	0.98017	2.543000	0.85770	0.650000	0.86243	GAT	PDE1B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	G			54967164	1	no_errors	ENST00000243052	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54967164	G	C	54967164	3	2	160	1	0	0	0	0	1	0	0	0	11658	1290	45	1	949	1	PDE1B	12	54967164	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	544563	54967164	78884731	1410	29683										
MMP19	4327	genome.wustl.edu	37	chr12	56230828	56230828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgggtgagcagtcagtattCaaacgtggtttctgtggctg	15	6	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56230828C>G	ENST00000322569.4	-	9	1610	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Missense_Mutation_p.E221Q|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000548629.1_Missense_Mutation_p.E484Q	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	507					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AGTCAGTATTCAAACGTGGTT	0.527																																																	0													205	189	195					12																	56230828		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1519G>C	12.37:g.56230828C>G	ENSP00000313437:p.Glu507Gln		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.E507Q	ENST00000322569.4	37	c.1519	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475801	0.26511	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.17854	4.43;2.42;2.25	3.46	2.46	0.29980	.	5.893500	0.00633	N	0.000487	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	P;P	0.46512	0.596;0.879	B;B	0.41174	0.189;0.349	T	0.19679	-1.0298	10	0.28530	T	0.3	.	7.3683	0.26787	0.2604:0.7396:0.0:0.0	.	507;221	Q99542;Q99542-3	MMP19_HUMAN;.	Q	221;507;484	ENSP00000377736:E221Q;ENSP00000313437:E507Q;ENSP00000446979:E484Q	ENSP00000313437:E507Q	E	-	1	0	MMP19	54517095	0.007000	0.16637	0.087000	0.20705	0.016000	0.09150	0.944000	0.29043	1.943000	0.56356	0.561000	0.74099	GAA	MMP19	-	NULL		0.527	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	C	NM_002429		56230828	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	0.015	G	G	56230828	C	G	56230828	3	3	160	1	0	0	0	0	1	0	0	0	9680	835	29	1	11	1	MMP19	12	56230828	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1263664	56230828	77621067	1411	29684										
MMP19	4327	genome.wustl.edu	37	chr12	56233334	56233334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcagcttaaagtggggccGgtagccctcgtagactgggg	17	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56233334G>C	ENST00000322569.4	-	5	803	c.712C>G	c.(712-714)Cgg>Ggg	p.R238G	MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Missense_Mutation_p.R215G	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	238					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AAGTGGGGCCGGTAGCCCTCG	0.617																																																	0													58	51	54					12																	56233334		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.712C>G	12.37:g.56233334G>C	ENSP00000313437:p.Arg238Gly		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R238G	ENST00000322569.4	37	c.712	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889031	0.17540	.	.	ENSG00000123342	ENST00000322569;ENST00000548629	T;T	0.21031	2.03;2.03	5.75	3.87	0.44632	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.567805	0.19712	N	0.107796	T	0.19287	0.0463	N	0.20881	0.62	0.80722	D	1	P	0.43024	0.798	P	0.45881	0.496	T	0.01635	-1.1307	10	0.45353	T	0.12	.	11.966	0.53035	0.0:0.0:0.5426:0.4574	.	238	Q99542	MMP19_HUMAN	G	238;215	ENSP00000313437:R238G;ENSP00000446979:R215G	ENSP00000313437:R238G	R	-	1	2	MMP19	54519601	0.995000	0.38212	0.943000	0.38184	0.023000	0.10783	2.405000	0.44548	0.736000	0.32559	0.511000	0.50034	CGG	MMP19	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom		0.617	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	G	NM_002429		56233334	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	0.825	C	C	56233334	G	C	56233334	3	2	160	1	0	0	0	0	1	0	0	0	9680	1115	39	2	834	2	MMP19	12	56233334	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2506	56233334	77618561	1412	29685										
SMARCC2	6601	genome.wustl.edu	37	chr12	56563372	56563372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcggtggagaggttgccctCgccaatgtcccgctccacct	12	15	0	1	rs144543721	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56563372C>T	ENST00000267064.4	-	24	2649	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E886K|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E886K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E886K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	855	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E855K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGTTGCCCTCGCCAATGtcc	0.597																																																	2	Substitution - Missense(2)	lung(2)						C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	143	112	123		2656,2563,2656	4.9	1	12	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	56,56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	886/1153,855/1215,886/1131	56563372	2,13004	2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2563G>A	12.37:g.56563372C>T	ENSP00000267064:p.Glu855Lys		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.E855K	ENST00000267064.4	37	c.2563	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421143	0.83559	2.27E-4	1.16E-4	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48836	1.17;0.8;0.82;0.82	4.92	4.92	0.64577	.	0.074237	0.49916	D	0.000122	T	0.45875	0.1364	L	0.31294	0.92	0.48830	D	0.999716	P;P;P;P;P	0.51791	0.775;0.948;0.913;0.913;0.948	P;P;P;B;P	0.50231	0.635;0.539;0.635;0.429;0.539	T	0.41662	-0.9496	10	0.48119	T	0.1	-20.3049	14.0293	0.64606	0.0:1.0:0.0:0.0	.	775;886;890;855;886	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	886;886;886;855	ENSP00000377591:E886K;ENSP00000449396:E886K;ENSP00000302919:E886K;ENSP00000267064:E855K	ENSP00000267064:E855K	E	-	1	0	SMARCC2	54849639	0.998000	0.40836	0.998000	0.56505	0.603000	0.37013	4.811000	0.62606	2.455000	0.83008	0.561000	0.74099	GAG	SMARCC2	-	NULL		0.597	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56563372	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56563372	C	T	56563372	3	4	160	1	0	0	0	0	1	0	0	0	14806	893	31	1	1101	1	SMARCC2	12	56563372	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	330038	56563372	77288523	1413	29686										
SMARCC2	6601	genome.wustl.edu	37	chr12	56563391	56563391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgccaatgtcccgctccacCtttgtcttcctttccccctc	4	20	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56563391C>G	ENST00000267064.4	-	24	2630	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K879N|SMARCC2_ENST00000394023.3_Missense_Mutation_p.K879N|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K879N	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	848	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			cccgctccacctttgtcttcc	0.622																																																	0													171	129	143					12																	56563391		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2544G>C	12.37:g.56563391C>G	ENSP00000267064:p.Lys848Asn		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.K848N	ENST00000267064.4	37	c.2544	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362074	0.61403	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.52983	1.1;0.64;0.69;0.7	4.92	2.88	0.33553	.	0.147967	0.41500	D	0.000879	T	0.57388	0.2050	L	0.52905	1.665	0.37431	D	0.914022	D;P;D;P;P	0.58620	0.983;0.589;0.983;0.453;0.589	D;P;D;P;P	0.68192	0.956;0.784;0.956;0.546;0.784	T	0.58864	-0.7561	10	0.45353	T	0.12	-8.9631	7.9434	0.29971	0.0:0.7892:0.0:0.2108	.	768;879;883;848;879	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	N	879;879;879;848	ENSP00000377591:K879N;ENSP00000449396:K879N;ENSP00000302919:K879N;ENSP00000267064:K848N	ENSP00000267064:K848N	K	-	3	2	SMARCC2	54849658	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.196000	0.32198	0.485000	0.27652	0.561000	0.74099	AAG	SMARCC2	-	superfamily_Chromodomain-like		0.622	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56563391	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56563391	C	G	56563391	3	3	160	1	0	0	0	0	1	0	0	0	14806	680	24	4	1120	4	SMARCC2	12	56563391	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19	56563391	77288504	1414	29687										
RNF41	10193	genome.wustl.edu	37	chr12	56600398	56600398	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcggttcatctgtctagtctCtagtgtggccagaccctggg	12	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:56600398C>G	ENST00000345093.4	-	7	1156	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	RNF41_ENST00000552656.1_Missense_Mutation_p.E263Q|RNF41_ENST00000394013.2_Missense_Mutation_p.E192Q	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	263					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TGTCTAGTCTCTAGTGTGGCC	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													147	111	123					12																	56600398		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.787G>C	12.37:g.56600398C>G	ENSP00000342755:p.Glu263Gln	1016	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E263Q	ENST00000345093.4	37	c.787	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035477	0.93630	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.11821	2.74;2.74	5.45	5.45	0.79879	USP8 interacting (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.848	T	0.00717	-1.1596	10	0.48119	T	0.1	-36.1228	18.4487	0.90695	0.0:1.0:0.0:0.0	.	250;263	B4E353;Q9H4P4	.;RNF41_HUMAN	Q	263;192;250;263	ENSP00000342755:E263Q;ENSP00000447303:E263Q	ENSP00000342755:E263Q	E	-	1	0	RNF41	54886665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.703000	0.84585	2.722000	0.93159	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56600398	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56600398	C	G	56600398	3	3	160	1	0	0	0	0	1	0	0	0	13524	922	32	1	170	1	RNF41	12	56600398	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	37007	56600398	77251497	1415	29688										
RDH16	8608	genome.wustl.edu	37	chr12	57351166	57351166	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgaacacatacttatctctCaggtggctcagcacctgcct	7	13	3	1	rs200407338	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57351166C>T	ENST00000398138.3	-	1	937	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	27					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACTTATCTCTCAGGTGGCTCA	0.582													C|||	2	0.000399361	0.0015	0	5008	,	,		19458	0		0	False		,,,				2504	0				GBM(179;741 2921 43105 45298)												0								C		1,4405	2.1+/-5.4	0,1,2202	76	83	81		81	-3.2	0	12		81	0,8600		0,0,4300	no	coding-synonymous	RDH16	NM_003708.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		27/318	57351166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8608				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.81G>A	12.37:g.57351166C>T			Q9UNV2	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L27	ENST00000398138.3	37	c.81	CCDS41797.1	12																																																																																			RDH16	-	NULL		0.582	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH16	HGNC	protein_coding	OTTHUMT00000410898.1	C	NM_003708		57351166	-1	no_errors	ENST00000398138	ensembl	human	known	70_37	silent	SNP	0.007	T	T	57351166	C	T	57351166	2	4	160	1	0	0	0	0	0	0	0	1	13224	813	29	1		1	RDH16	12	57351166	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	750768	57351166	76500729	1416	29689										
MYO1A	4640	genome.wustl.edu	37	chr12	57432326	57432326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccctcaggaaacaaggaccGaaggagggggtgctgggcct	17	10	1	0	rs202137133		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57432326G>A	ENST00000442789.2	-	18	1917	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYO1A_ENST00000300119.3_Missense_Mutation_p.R544W|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.R382W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	544	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AACAAGGACCGAAGGAGGGGG	0.537																																																	0													75	74	74					12																	57432326		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1630C>T	12.37:g.57432326G>A	ENSP00000393392:p.Arg544Trp		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R544W	ENST00000442789.2	37	c.1630	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721697	0.68959	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.72725	-0.68;-0.68;-0.68	4.94	4.04	0.47022	Myosin head, motor domain (2);	0.715706	0.13568	N	0.378278	T	0.80116	0.4564	M	0.83312	2.635	0.09310	N	0.999998	D	0.71674	0.998	P	0.54210	0.745	T	0.71174	-0.4670	10	0.87932	D	0	.	10.9273	0.47197	0.0:0.0:0.6624:0.3376	.	544	Q9UBC5	MYO1A_HUMAN	W	544;544;382	ENSP00000300119:R544W;ENSP00000393392:R544W;ENSP00000440514:R382W	ENSP00000300119:R544W	R	-	1	2	MYO1A	55718593	0.136000	0.22515	0.909000	0.35828	0.870000	0.49936	2.287000	0.43505	1.202000	0.43218	0.561000	0.74099	CGG	MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	G	NM_005379		57432326	-1	no_errors	ENST00000300119	ensembl	human	known	70_37	missense	SNP	0.447	A	A	57432326	G	A	57432326	3	1	160	1	0	0	0	0	1	0	0	0	10091	1057	37	1	1549	1	MYO1A	12	57432326	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	81160	57432326	76419569	1417	29690										
STAT6	6778	genome.wustl.edu	37	chr12	57490477	57490477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccgactccccttgcccctCcaggagaagcttagtgaggt	10	16	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57490477C>T	ENST00000300134.3	-	22	2747	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	STAT6_ENST00000556155.1_Missense_Mutation_p.E808K|STAT6_ENST00000543873.2_Missense_Mutation_p.E808K|STAT6_ENST00000538913.2_Missense_Mutation_p.E698K|STAT6_ENST00000537215.2_Missense_Mutation_p.E698K|STAT6_ENST00000454075.3_Missense_Mutation_p.E808K	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	808					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTGCCCCTCCAGGAGAAGC	0.597																																																	0													38	42	41					12																	57490477		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2422G>A	12.37:g.57490477C>T	ENSP00000300134:p.Glu808Lys		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.E808K	ENST00000300134.3	37	c.2422	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489898	0.84962	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.93763	-3.0;-3.28;-3.0;-3.0;-3.28;-3.0	5.4	5.4	0.78164	.	0.000000	0.48286	D	0.000195	D	0.93520	0.7932	N	0.24115	0.695	0.37703	D	0.9243	D;P	0.63880	0.993;0.915	D;B	0.70935	0.971;0.438	D	0.95054	0.8189	10	0.62326	D	0.03	-23.4117	14.6799	0.69009	0.0:1.0:0.0:0.0	.	808;808	A8K4S9;P42226	.;STAT6_HUMAN	K	808;698;698;808;808;698;808;698	ENSP00000300134:E808K;ENSP00000445409:E698K;ENSP00000438451:E808K;ENSP00000451742:E808K;ENSP00000444530:E698K;ENSP00000401486:E808K	ENSP00000300134:E808K	E	-	1	0	STAT6	55776744	1.000000	0.71417	0.988000	0.46212	0.940000	0.58332	2.333000	0.43912	2.537000	0.85549	0.561000	0.74099	GAG	STAT6	-	NULL		0.597	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	C	NM_003153		57490477	-1	no_errors	ENST00000300134	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57490477	C	T	57490477	3	4	160	1	0	0	0	0	1	0	0	0	15300	864	30	1	125	1	STAT6	12	57490477	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	58151	57490477	76361418	1418	29691										
LRP1	4035	genome.wustl.edu	37	chr12	57538819	57538819	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accaacacagacggctccttCatatgtggctgtgttgaagg	11	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57538819C>T	ENST00000243077.3	+	5	979	c.513C>T	c.(511-513)ttC>ttT	p.F171F	LRP1_ENST00000338962.4_Silent_p.F171F|LRP1_ENST00000553277.1_Silent_p.F171F|LRP1_ENST00000554174.1_Silent_p.F171F|RP11-545N8.3_ENST00000555461.1_RNA|RP11-545N8.3_ENST00000554476.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGGCTCCTTCATATGTGGCT	0.547																																																	0													89	77	81					12																	57538819		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.513C>T	12.37:g.57538819C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F171	ENST00000243077.3	37	c.513	CCDS8932.1	12																																																																																			LRP1	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	C	NM_002332		57538819	1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	0.997	T	T	57538819	C	T	57538819	2	4	160	1	0	0	0	0	0	0	0	1	8974	825	29	1		1	LRP1	12	57538819	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	48342	57538819	76313076	1419	29692										
ARHGAP9	64333	genome.wustl.edu	37	chr12	57871325	57871325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagcagcgtccagagttggGgtccaggtgctgctcccagg	16	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57871325G>T	ENST00000356411.2	-	4	811	c.673C>A	c.(673-675)Ccc>Acc	p.P225T	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P41T|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P304T|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P296T|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P225T|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P225T			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	225	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCAGAGTTGGGGTCCAGGTGC	0.642																																																	0													47	53	51					12																	57871325		2203	4300	6503	SO:0001583	missense	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.673C>A	12.37:g.57871325G>T	ENSP00000348782:p.Pro225Thr		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.P225T	ENST00000356411.2	37	c.673		12	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667524	0.67814	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602	T;T;T;T;T;T;T;T;T;D	0.83075	-1.09;-1.09;-1.09;-1.09;-1.09;0.92;0.92;0.92;0.92;-1.68	3.58	3.58	0.41010	WW/Rsp5/WWP (2);	0.362787	0.25500	N	0.030245	T	0.80518	0.4638	L	0.53249	1.67	0.30602	N	0.760374	P;P;B;P;B;B	0.52316	0.952;0.745;0.361;0.739;0.18;0.023	P;B;B;B;B;B	0.46585	0.521;0.33;0.107;0.407;0.056;0.019	T	0.79193	-0.1904	10	0.39692	T	0.17	.	10.9882	0.47534	0.0:0.0:1.0:0.0	.	225;304;225;225;225;41	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	T	225;225;225;296;274;41;41;41;78;41;41	ENSP00000377380:P225T;ENSP00000348782:P225T;ENSP00000394307:P225T;ENSP00000377386:P296T;ENSP00000397950:P41T;ENSP00000449829:P41T;ENSP00000450256:P41T;ENSP00000446932:P78T;ENSP00000448424:P41T;ENSP00000450223:P41T	ENSP00000344852:P274T	P	-	1	0	ARHGAP9	56157592	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	4.259000	0.58828	2.292000	0.77174	0.655000	0.94253	CCC	ARHGAP9	-	superfamily_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.642	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		G	NM_032496		57871325	-1	no_errors	ENST00000356411	ensembl	human	known	70_37	missense	SNP	0.996	T	T	57871325	G	T	57871325	3	4	160	1	0	0	0	0	1	0	0	0	889	1232	43	4	1582	4	ARHGAP9	12	57871325	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	332506	57871325	75980570	1420	29693										
MBD6	114785	genome.wustl.edu	37	chr12	57919472	57919472	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatccagcctggtgccctctGacctgggctctcctccggcc	11	18	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57919472G>A	ENST00000355673.3	+	6	1077	c.721G>A	c.(721-723)Gac>Aac	p.D241N	MBD6_ENST00000431731.2_Missense_Mutation_p.D241N	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	241	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGTGCCCTCTGACCTGGGCTC	0.632																																																	0													129	149	142					12																	57919472		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.721G>A	12.37:g.57919472G>A	ENSP00000347896:p.Asp241Asn		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.D241N	ENST00000355673.3	37	c.721	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	g	13.55	2.269840	0.40095	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.1	2.2	0.27929	.	0.000000	0.43747	U	0.000539	T	0.14960	0.0361	N	0.08118	0	0.29081	N	0.882712	B;B	0.19200	0.034;0.032	B;B	0.16289	0.004;0.015	T	0.15636	-1.0430	8	.	.	.	-4.1146	6.1959	0.20550	0.1395:0.0:0.8605:0.0	.	241;241	Q6P0P0;Q96DN6	.;MBD6_HUMAN	N	241	.	.	D	+	1	0	MBD6	56205739	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	2.601000	0.46249	0.871000	0.35750	0.444000	0.29173	GAC	MBD6	-	NULL		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919472	1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	0.998	A	A	57919472	G	A	57919472	3	1	160	1	0	0	0	0	1	0	0	0	9371	1290	45	1	735	1	MBD6	12	57919472	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	48147	57919472	75932423	1421	29694										
MBD6	114785	genome.wustl.edu	37	chr12	57919806	57919806	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccccgtgcccaggcaccctCagcttcccactcctcatcac	6	22	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57919806C>G	ENST00000355673.3	+	6	1411	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.S352*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	352	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGGCACCCTCAGCTTCCCAC	0.617																																																	0													51	53	52					12																	57919806		2203	4300	6503	SO:0001587	stop_gained	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1055C>G	12.37:g.57919806C>G	ENSP00000347896:p.Ser352*		Q8N3M0|Q8NA81|Q96Q00	Nonsense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S352*	ENST00000355673.3	37	c.1055	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	c	37	6.528630	0.97637	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.24	4.24	0.50183	.	1.188320	0.06641	N	0.761111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.9771	14.0192	0.64543	0.0:1.0:0.0:0.0	.	.	.	.	X	352	.	.	S	+	2	0	MBD6	56206073	0.990000	0.36364	1.000000	0.80357	0.860000	0.49131	3.080000	0.50112	2.344000	0.79699	0.556000	0.70494	TCA	MBD6	-	NULL		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57919806	1	no_errors	ENST00000355673	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	57919806	C	G	57919806	4	3	160	1	0	0	0	0	0	1	0	0	9371	838	29	1	1069	1	MBD6	12	57919806	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	334	57919806	75932089	1422	29695										
MBD6	114785	genome.wustl.edu	37	chr12	57919872	57919872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaccccctactgtatttcGattgctagaagggagaggcc	11	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:57919872G>A	ENST00000355673.3	+	6	1477	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	MBD6_ENST00000431731.2_Missense_Mutation_p.R374Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	374	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTGTATTTCGATTGCTAGAA	0.632																																																	0													62	66	65					12																	57919872		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1121G>A	12.37:g.57919872G>A	ENSP00000347896:p.Arg374Gln		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.R374Q	ENST00000355673.3	37	c.1121	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	g	15.99	2.995659	0.54147	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.14	4.14	0.48551	.	0.510531	0.15096	N	0.280809	T	0.37732	0.1014	N	0.08118	0	0.26247	N	0.978774	D;D	0.71674	0.998;0.996	D;P	0.72982	0.979;0.854	T	0.30179	-0.9987	8	.	.	.	-2.6735	13.7991	0.63188	0.0:0.0:1.0:0.0	.	374;374	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Q	374	.	.	R	+	2	0	MBD6	56206139	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.467000	0.53078	2.287000	0.76781	0.556000	0.70494	CGA	MBD6	-	NULL		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919872	1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	0.960	A	A	57919872	G	A	57919872	3	1	160	1	0	0	0	0	1	0	0	0	9371	1058	37	1	1135	1	MBD6	12	57919872	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	66	57919872	75932023	1423	29696										
AVIL	10677	genome.wustl.edu	37	chr12	58204681	58204681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcaagaagacatcacctCggttgaaactgtcccagctc	8	14	1	3	rs150762636		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:58204681C>G	ENST00000257861.3	-	5	906	c.476G>C	c.(475-477)cGa>cCa	p.R159P	AVIL_ENST00000537081.1_Missense_Mutation_p.R152P	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	159	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCACCTCGGTTGAAACT	0.542																																																	0													143	144	143					12																	58204681		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.476G>C	12.37:g.58204681C>G	ENSP00000257861:p.Arg159Pro		B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.R159P	ENST00000257861.3	37	c.476	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711521	0.48517	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.30182	1.54;1.54	5.35	-3.19	0.05171	Gelsolin domain (1);	0.893166	0.09817	N	0.751962	T	0.22704	0.0548	N	0.13043	0.29	0.18873	N	0.999985	B;P	0.35107	0.282;0.484	B;P	0.47102	0.333;0.537	T	0.43734	-0.9373	10	0.62326	D	0.03	0.1841	4.6809	0.12734	0.3238:0.3314:0.0:0.3447	.	152;159	O75366-2;O75366	.;AVIL_HUMAN	P	152;159	ENSP00000443207:R152P;ENSP00000257861:R159P	ENSP00000257861:R159P	R	-	2	0	AVIL	56490948	0.000000	0.05858	0.555000	0.28281	0.985000	0.73830	-3.400000	0.00484	-0.370000	0.08016	0.655000	0.94253	CGA	AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.542	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	C	NM_006576		58204681	-1	no_errors	ENST00000257861	ensembl	human	known	70_37	missense	SNP	0.000	G	G	58204681	C	G	58204681	3	3	160	1	0	0	0	0	1	0	0	0	1228	884	31	1	2043	1	AVIL	12	58204681	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	284809	58204681	75647214	1424	29697										
TMEM5	10329	genome.wustl.edu	37	chr12	64174868	64174868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaaaatgagcaacaacacaGatttaaaactagccttcaaa	4	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:64174868G>A	ENST00000261234.6	+	2	397	c.239G>A	c.(238-240)aGa>aAa	p.R80K	TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	80						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CAACAACACAGATTTAAAACT	0.358																																																	0													91	97	95					12																	64174868		2203	4300	6503	SO:0001583	missense	10329			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.239G>A	12.37:g.64174868G>A	ENSP00000261234:p.Arg80Lys		A8K017|Q6PKD6	Missense_Mutation	SNP	pfam_Exostosin	p.R80K	ENST00000261234.6	37	c.239	CCDS8966.1	12	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636186	0.29068	.	.	ENSG00000118600	ENST00000261234	T	0.29655	1.56	4.34	4.34	0.51931	.	0.235965	0.44285	D	0.000472	T	0.22781	0.0550	L	0.34521	1.04	0.80722	D	1	B	0.17038	0.02	B	0.13407	0.009	T	0.04360	-1.0957	9	.	.	.	-18.7834	13.0485	0.58942	0.0:0.0:1.0:0.0	.	80	Q9Y2B1	TMEM5_HUMAN	K	80	ENSP00000261234:R80K	.	R	+	2	0	TMEM5	62461135	1.000000	0.71417	0.791000	0.31998	0.391000	0.30476	3.069000	0.50026	2.342000	0.79632	0.491000	0.48974	AGA	TMEM5	-	NULL		0.358	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM5	HGNC	protein_coding	OTTHUMT00000400821.1	G	NM_014254		64174868	1	no_errors	ENST00000261234	ensembl	human	known	70_37	missense	SNP	0.998	A	A	64174868	G	A	64174868	3	1	160	1	0	0	0	0	1	0	0	0	16204	942	33	1	245	1	TMEM5	12	64174868	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5970187	64174868	69677027	1425	29698										
C12orf56	115749	genome.wustl.edu	37	chr12	64712509	64712509	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcctaagtaaaactcatttCcattcccattgcacttgaaa	3	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:64712509C>G	ENST00000543942.2	-	4	1366	c.740G>C	c.(739-741)gGa>gCa	p.G247A	C12orf56_ENST00000333722.5_Intron|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	247										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACTCATTTCCATTCCCATT	0.403																																																	0													129	106	113					12																	64712509		692	1591	2283	SO:0001583	missense	115749				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.740G>C	12.37:g.64712509C>G	ENSP00000446101:p.Gly247Ala			Missense_Mutation	SNP	NULL	p.G247A	ENST00000543942.2	37	c.740		12	.	.	.	.	.	.	.	.	.	.	C	1.959	-0.439445	0.04636	.	.	ENSG00000185306	ENST00000543942;ENST00000433716	.	.	.	4.87	0.177	0.15054	.	.	.	.	.	T	0.36468	0.0968	L	0.51422	1.61	0.09310	N	0.999992	.	.	.	.	.	.	T	0.30679	-0.9970	5	.	.	.	.	4.3439	0.11124	0.0:0.4668:0.2458:0.2875	.	.	.	.	A	247;249	.	.	G	-	2	0	C12orf56	62998776	0.022000	0.18835	0.123000	0.21794	0.017000	0.09413	-0.160000	0.10041	-0.062000	0.13088	-0.251000	0.11542	GGA	C12orf56	-	NULL		0.403	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	C	NM_001099676		64712509	-1	no_errors	ENST00000543942	ensembl	human	putative	70_37	missense	SNP	0.181	G	G	64712509	C	G	64712509	3	3	160	1	0	0	0	0	1	0	0	0	1704	855	30	1	1168	1	C12orf56	12	64712509	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	537641	64712509	69139386	1426	29699										
GNS	2799	genome.wustl.edu	37	chr12	65130862	65130862	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaaactcatacagctgtctCttgtctattggcaaggaaaa	7	9	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:65130862C>G	ENST00000258145.3	-	9	1190	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	GNS_ENST00000542058.1_Missense_Mutation_p.K320N|GNS_ENST00000418919.2_Missense_Mutation_p.K284N|GNS_ENST00000543646.1_Missense_Mutation_p.K372N	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	340			K -> R (in MPS3D). {ECO:0000269|PubMed:20232353}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACAGCTGTCTCTTGTCTATTG	0.428																																																	0													114	110	111					12																	65130862		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1020G>C	12.37:g.65130862C>G	ENSP00000258145:p.Lys340Asn		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.K340N	ENST00000258145.3	37	c.1020	CCDS8970.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.73|19.73	3.882599|3.882599	0.72410|0.72410	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000540196|ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471	.|D;D;D;D	.|0.98329	.|-4.87;-4.87;-4.87;-4.87	5.49|5.49	0.522|0.522	0.17053|0.17053	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99214|0.99214	0.9727|0.9727	H|H	0.98559|0.98559	4.265|4.265	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;1.0;0.999	D|D	0.98559|0.98559	1.0640|1.0640	5|9	.|.	.|.	.|.	-20.7307|-20.7307	9.6715|9.6715	0.40015|0.40015	0.0:0.3898:0.0:0.6102|0.0:0.3898:0.0:0.6102	.|.	.|320;372;340;284	.|B4DYH8;F6S8M0;P15586;Q7Z3X3	.|.;.;GNS_HUMAN;.	Q|N	160|284;340;372;320;257;277	.|ENSP00000413130:K284N;ENSP00000258145:K340N;ENSP00000438497:K372N;ENSP00000444819:K320N	.|.	E|K	-|-	1|3	0|2	GNS|GNS	63417129|63417129	0.999000|0.999000	0.42202|0.42202	0.964000|0.964000	0.40570|0.40570	0.968000|0.968000	0.65278|0.65278	0.789000|0.789000	0.26886|0.26886	-0.075000|-0.075000	0.12798|0.12798	0.555000|0.555000	0.69702|0.69702	GAG|AAG	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.428	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	C			65130862	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	missense	SNP	0.960	G	G	65130862	C	G	65130862	3	3	160	1	0	0	0	0	1	0	0	0	6569	912	32	1	662	1	GNS	12	65130862	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	418353	65130862	68721033	1427	29700										
GNS	2799	genome.wustl.edu	37	chr12	65141672	65141672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcaggatactggctctgctGgggcagcagagagcacttgg	16	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:65141672G>A	ENST00000258145.3	-	3	449	c.279C>T	c.(277-279)ccC>ccT	p.P93P	GNS_ENST00000542058.1_Silent_p.P73P|GNS_ENST00000418919.2_Silent_p.P37P|GNS_ENST00000543646.1_Silent_p.P125P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	93					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TGGCTCTGCTGGGGCAGCAGA	0.458																																																	0													121	111	114					12																	65141672		2203	4300	6503	SO:0001819	synonymous_variant	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.279C>T	12.37:g.65141672G>A			B4DYH8|Q53F05	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.P93	ENST00000258145.3	37	c.279	CCDS8970.1	12																																																																																			GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.458	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	G			65141672	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	silent	SNP	0.374	A	A	65141672	G	A	65141672	2	1	160	1	0	0	0	0	0	0	0	1	6569	1335	47	4		4	GNS	12	65141672	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	10810	65141672	68710223	1428	29701										
GRIP1	23426	genome.wustl.edu	37	chr12	66839208	66839208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatcccaaatcctgtgacagGatctgccgtcagcacaacct	8	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:66839208G>A	ENST00000398016.3	-	11	1347	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	GRIP1_ENST00000359742.4_Missense_Mutation_p.P479S|GRIP1_ENST00000286445.7_Missense_Mutation_p.P479S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTGTGACAGGATCTGCCGTC	0.507																																																	0													90	92	91					12																	66839208		1965	4163	6128	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1279C>T	12.37:g.66839208G>A	ENSP00000381098:p.Pro427Ser		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P479S	ENST00000398016.3	37	c.1435	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.64|14.64	2.596473|2.596473	0.46318|0.46318	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000543172	T;T;T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6|.	4.93|4.93	4.93|4.93	0.64822|0.64822	PDZ/DHR/GLGF (3);|.	0.165341|.	0.53938|.	D|.	0.000049|.	T|T	0.51432|0.51432	0.1674|0.1674	N|N	0.16743|0.16743	0.435|0.435	0.45777|0.45777	D|D	0.998666|0.998666	B;B;B;B|.	0.27380|.	0.177;0.03;0.054;0.048|.	B;B;B;B|.	0.35607|.	0.206;0.044;0.091;0.096|.	T|T	0.48175|0.48175	-0.9058|-0.9058	9|5	.|.	.|.	.|.	-10.5494|-10.5494	18.1423|18.1423	0.89643|0.89643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	427;479;427;479|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	S|F	427;479;479;427;371;319|246	ENSP00000381098:P427S;ENSP00000352780:P479S;ENSP00000286445:P479S;ENSP00000446047:P427S;ENSP00000446024:P371S;ENSP00000446011:P319S|.	.|.	P|S	-|-	1|2	0|0	GRIP1|GRIP1	65125475|65125475	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.978000|0.978000	0.69477|0.69477	3.934000|3.934000	0.56553|0.56553	2.275000|2.275000	0.75901|0.75901	0.442000|0.442000	0.29010|0.29010	CCT|TCC	GRIP1	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.507	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	G			66839208	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66839208	G	A	66839208	3	1	160	1	0	0	0	0	1	0	0	0	6807	1174	41	1	2007	1	GRIP1	12	66839208	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1697536	66839208	67012687	1429	29702										
BEST3	144453	genome.wustl.edu	37	chr12	70049417	70049417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggctgggctgaggtcatctCggggtaagaacatggagctg	17	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:70049417C>A	ENST00000330891.5	-	10	1503	c.1277G>T	c.(1276-1278)cGa>cTa	p.R426L	BEST3_ENST00000553096.1_Missense_Mutation_p.R320L|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.R213L	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	426					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGGTCATCTCGGGGTAAGAA	0.582																																																	0													101	108	106					12																	70049417		2048	4194	6242	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1277G>T	12.37:g.70049417C>A	ENSP00000332413:p.Arg426Leu		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.R426L	ENST00000330891.5	37	c.1277	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	8.012	0.757748	0.15846	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97772	-4.18;-4.53;-4.49	4.19	2.31	0.28768	.	0.631105	0.15160	N	0.277225	D	0.91492	0.7314	N	0.08118	0	0.09310	N	0.999995	B;B	0.15141	0.002;0.012	B;B	0.09377	0.003;0.004	D	0.83443	0.0044	10	0.29301	T	0.29	-0.9374	7.8158	0.29258	0.0:0.2078:0.6307:0.1615	.	426;213	Q8N1M1;B5MDI8	BEST3_HUMAN;.	L	213;426;320	ENSP00000433213:R213L;ENSP00000332413:R426L;ENSP00000449548:R320L	ENSP00000332413:R426L	R	-	2	0	BEST3	68335684	0.003000	0.15002	0.003000	0.11579	0.238000	0.25445	1.223000	0.32527	0.224000	0.20940	0.655000	0.94253	CGA	BEST3	-	NULL		0.582	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70049417	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	0.020	A	A	70049417	C	A	70049417	3	1	160	1	0	0	0	0	1	0	0	0	1407	884	31	3	733	3	BEST3	12	70049417	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3210209	70049417	63802478	1430	29703										
PTPRB	5787	genome.wustl.edu	37	chr12	70965766	70965766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtttttgtttttaatggtgaCttcatagtgatcaaagtctc	8	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:70965766C>G	ENST00000261266.5	-	10	2319	c.2290G>C	c.(2290-2292)Gtc>Ctc	p.V764L	PTPRB_ENST00000538708.1_Missense_Mutation_p.V764L|PTPRB_ENST00000551525.1_Missense_Mutation_p.V981L|PTPRB_ENST00000451516.2_Missense_Mutation_p.V674L|PTPRB_ENST00000550857.1_Missense_Mutation_p.V674L|PTPRB_ENST00000550358.1_Missense_Mutation_p.V894L|PTPRB_ENST00000334414.6_Missense_Mutation_p.V982L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	764	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTAATGGTGACTTCATAGTGA	0.433																																																	0													150	152	151					12																	70965766		1943	4160	6103	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2290G>C	12.37:g.70965766C>G	ENSP00000261266:p.Val764Leu		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V982L	ENST00000261266.5	37	c.2944	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692889	0.68271	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.08	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.71581	2.175	0.53005	D	0.999961	D;D;D;P;D;D;D	0.89917	1.0;1.0;0.998;0.726;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.999;0.999;0.999;0.66;0.999;0.999;0.999	T	0.75847	-0.3173	10	0.33940	T	0.23	.	13.818	0.63303	0.0:0.9295:0.0:0.0705	.	674;764;861;981;982;764;894	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	L	982;674;894;894;764;674;764;981;861	ENSP00000334928:V982L;ENSP00000393028:V674L;ENSP00000448058:V894L;ENSP00000438927:V764L;ENSP00000447302:V674L;ENSP00000261266:V764L;ENSP00000448349:V981L;ENSP00000446982:V861L	ENSP00000261266:V764L	V	-	1	0	PTPRB	69252033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.584000	0.60971	1.584000	0.49913	0.655000	0.94253	GTC	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	C			70965766	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70965766	C	G	70965766	3	3	160	1	0	0	0	0	1	0	0	0	12826	565	20	4	3795	4	PTPRB	12	70965766	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	916349	70965766	62886129	1431	29704										
TRHDE	29953	genome.wustl.edu	37	chr12	72667020	72667020	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcactacaatctgatgctCaccgccttcatggagaactt	7	13	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:72667020C>G	ENST00000261180.4	+	1	558	c.462C>G	c.(460-462)ctC>ctG	p.L154L	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	154					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCTGATGCTCACCGCCTTCA	0.672																																																	0													57	56	56					12																	72667020		2202	4293	6495	SO:0001819	synonymous_variant	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.462C>G	12.37:g.72667020C>G			A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L154	ENST00000261180.4	37	c.462	CCDS9004.1	12																																																																																			TRHDE	-	pfam_Peptidase_M1_N		0.672	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	C	NM_013381		72667020	1	no_errors	ENST00000261180	ensembl	human	known	70_37	silent	SNP	1.000	G	G	72667020	C	G	72667020	2	3	160	1	0	0	0	0	0	0	0	1	16510	813	29	1		1	TRHDE	12	72667020	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1701254	72667020	61184875	1432	29705										
CAPS2	84698	genome.wustl.edu	37	chr12	75678767	75678767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacatatgatttcctgtattCattcatttcaccaataatac	2	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:75678767C>G	ENST00000409445.3	-	16	1742	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	CAPS2_ENST00000442339.2_Missense_Mutation_p.E106Q|CAPS2_ENST00000393284.3_Missense_Mutation_p.E284Q|CAPS2_ENST00000409799.1_Missense_Mutation_p.E434Q|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	516	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTCCTGTATTCATTCATTTCA	0.299																																																	0													118	105	110					12																	75678767		2203	4300	6503	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1546G>C	12.37:g.75678767C>G	ENSP00000386959:p.Glu516Gln		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E516Q	ENST00000409445.3	37	c.1546	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277389	0.80580	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.27890	1.75;1.64;1.78;1.8	5.53	5.53	0.82687	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.60314	0.2259	M	0.80183	2.485	0.58432	D	0.999998	B;P;D;P;P	0.89917	0.402;0.843;1.0;0.863;0.593	B;B;D;P;P	0.87578	0.119;0.426;0.998;0.576;0.476	T	0.58306	-0.7659	10	0.40728	T	0.16	-25.474	19.8389	0.96675	0.0:1.0:0.0:0.0	.	106;284;252;516;434	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	Q	434;516;252;284;106	ENSP00000386977:E434Q;ENSP00000386959:E516Q;ENSP00000376963:E284Q;ENSP00000389633:E106Q	ENSP00000367975:E252Q	E	-	1	0	CAPS2	73965034	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.510000	0.67018	2.755000	0.94549	0.650000	0.86243	GAA	CAPS2	-	pfscan_EF_HAND_2		0.299	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	C			75678767	-1	no_errors	ENST00000409445	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75678767	C	G	75678767	3	3	160	1	0	0	0	0	1	0	0	0	2643	835	29	1	139	1	CAPS2	12	75678767	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3011747	75678767	58173128	1433	29706										
E2F7	144455	genome.wustl.edu	37	chr12	77421816	77421816	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcctttcctgaaatctcttCtgcagcagggagttggccat	10	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:77421816C>G	ENST00000322886.7	-	11	2222	c.1987G>C	c.(1987-1989)Gaa>Caa	p.E663Q	E2F7_ENST00000416496.2_Missense_Mutation_p.E663Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	663					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAAATCTCTTCTGCAGCAGGG	0.443																																																	0													119	112	115					12																	77421816		2203	4300	6503	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1987G>C	12.37:g.77421816C>G	ENSP00000323246:p.Glu663Gln		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.E663Q	ENST00000322886.7	37	c.1987	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523877	0.27299	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.49432	0.78;0.78;0.78	5.85	-1.48	0.08745	.	1.531430	0.03682	N	0.245693	T	0.38799	0.1054	L	0.47716	1.5	0.09310	N	1	P;B	0.38504	0.634;0.112	B;B	0.33521	0.165;0.024	T	0.33752	-0.9856	10	0.28530	T	0.3	-0.7859	9.291	0.37786	0.0:0.5641:0.2916:0.1443	.	663;663	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	Q	663;150;663;663	ENSP00000323246:E663Q;ENSP00000393639:E663Q;ENSP00000448245:E663Q	ENSP00000323246:E663Q	E	-	1	0	E2F7	75945947	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-0.316000	0.08071	-0.162000	0.10964	-0.910000	0.02820	GAA	E2F7	-	NULL		0.443	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	C	XM_084871		77421816	-1	no_errors	ENST00000322886	ensembl	human	known	70_37	missense	SNP	0.006	G	G	77421816	C	G	77421816	3	3	160	1	0	0	0	0	1	0	0	0	4882	922	32	1	760	1	E2F7	12	77421816	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1743049	77421816	56430079	1434	29707										
NAV3	89795	genome.wustl.edu	37	chr12	78513722	78513722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattgcctcacccacatttcGaaggtaaggatgtataaaat	7	8	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:78513722G>A	ENST00000397909.2	+	15	3919	c.3746G>A	c.(3745-3747)cGa>cAa	p.R1249Q	NAV3_ENST00000536525.2_Missense_Mutation_p.R1249Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R1249Q|NAV3_ENST00000228327.6_Missense_Mutation_p.R1249Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1249	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCACATTTCGAAGGTAAGGA	0.403										HNSCC(70;0.22)																																							0													40	39	39					12																	78513722		1848	4105	5953	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3746G>A	12.37:g.78513722G>A	ENSP00000381007:p.Arg1249Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1249Q	ENST00000397909.2	37	c.3746		12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642734	0.87859	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.30714	1.52;1.52;1.53;1.52	5.31	4.42	0.53409	.	0.000000	0.32671	U	0.005798	T	0.52549	0.1741	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.83275	0.973;0.996;0.994;0.691	T	0.57201	-0.7852	10	0.87932	D	0	-9.0085	15.9836	0.80130	0.0:0.1351:0.8649:0.0	.	1249;1249;1249;1249	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	Q	1249	ENSP00000446132:R1249Q;ENSP00000381007:R1249Q;ENSP00000228327:R1249Q;ENSP00000266692:R1249Q	ENSP00000228327:R1249Q	R	+	2	0	NAV3	77037853	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.526000	0.98042	1.226000	0.43582	0.655000	0.94253	CGA	NAV3	-	NULL		0.403	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78513722	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78513722	G	A	78513722	3	1	160	1	0	0	0	0	1	0	0	0	10208	1058	37	1	3804	1	NAV3	12	78513722	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1091906	78513722	55338173	1435	29708										
ACSS3	79611	genome.wustl.edu	37	chr12	81503391	81503391	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgccgttgatcgtcatattGaaaatggtaaaggggataag	12	4	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:81503391G>C	ENST00000548058.1	+	2	1274	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.E121Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	122						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCGTCATATTGAAAATGGTAA	0.338																																																	0													111	108	109					12																	81503391		2203	4298	6501	SO:0001583	missense	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.364G>C	12.37:g.81503391G>C	ENSP00000449535:p.Glu122Gln		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.E122Q	ENST00000548058.1	37	c.364	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116262	0.56505	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.50548	0.74;2.81;2.81	6.07	6.07	0.98685	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	L	0.49640	1.575	0.80722	D	1	P	0.47484	0.896	P	0.48270	0.572	T	0.49000	-0.8984	10	0.52906	T	0.07	-34.7674	13.3937	0.60838	0.075:0.0:0.925:0.0	.	122	Q9H6R3	ACSS3_HUMAN	Q	14;122;121	ENSP00000447748:E14Q;ENSP00000449535:E122Q;ENSP00000261206:E121Q	ENSP00000261206:E121Q	E	+	1	0	ACSS3	80027522	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.574000	0.74014	2.885000	0.99019	0.655000	0.94253	GAA	ACSS3	-	pfam_Acyl-CoA_synth_DUF3448		0.338	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	G	NM_024560		81503391	1	no_errors	ENST00000548058	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81503391	G	C	81503391	3	2	160	1	0	0	0	0	1	0	0	0	190	1291	45	1	370	1	ACSS3	12	81503391	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2989669	81503391	52348504	1436	29709										
CCDC38	120935	genome.wustl.edu	37	chr12	96300167	96300167	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaagttatttttactacctCgagcagaaacctgtctctct	5	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:96300167C>G	ENST00000344280.3	-	5	924	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	123										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTACTACCTCGAGCAGAAAC	0.358																																																	0													77	73	74					12																	96300167		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.367G>C	12.37:g.96300167C>G	ENSP00000345470:p.Glu123Gln		Q8N835	Missense_Mutation	SNP	NULL	p.E123Q	ENST00000344280.3	37	c.367	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889512	0.33348	.	.	ENSG00000165972	ENST00000344280	T	0.14266	2.52	4.98	4.08	0.47627	.	0.108390	0.64402	N	0.000008	T	0.15046	0.0363	L	0.28344	0.845	0.80722	D	1	P	0.46784	0.884	P	0.56343	0.796	T	0.04090	-1.0978	10	0.02654	T	1	-17.8699	11.1992	0.48730	0.0:0.8149:0.1851:0.0	.	123	Q502W7	CCD38_HUMAN	Q	123	ENSP00000345470:E123Q	ENSP00000345470:E123Q	E	-	1	0	CCDC38	94824298	0.980000	0.34600	0.994000	0.49952	0.921000	0.55340	1.994000	0.40757	1.297000	0.44761	0.561000	0.74099	GAG	CCDC38	-	NULL		0.358	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	C	NM_182496		96300167	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.993	G	G	96300167	C	G	96300167	3	3	160	1	0	0	0	0	1	0	0	0	2815	893	31	1	1372	1	CCDC38	12	96300167	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	14796776	96300167	37551728	1437	29710										
AMDHD1	144193	genome.wustl.edu	37	chr12	96356187	96356187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctggaagaagtgagtgatGaaggcatcgttgccatggca	14	7	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:96356187G>A	ENST00000266736.2	+	6	974	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	290					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGTGAGTGATGAAGGCATCGT	0.537																																																	0													112	86	95					12																	96356187		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.868G>A	12.37:g.96356187G>A	ENSP00000266736:p.Glu290Lys		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.E290K	ENST00000266736.2	37	c.868	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882289	0.51908	.	.	ENSG00000139344	ENST00000266736	T	0.50813	0.73	5.12	4.23	0.50019	Metal-dependent hydrolase, composite domain (1);	0.202896	0.51477	D	0.000093	T	0.39091	0.1065	L	0.47078	1.49	0.40289	D	0.978486	B	0.12630	0.006	B	0.17979	0.02	T	0.23154	-1.0196	10	0.30078	T	0.28	1.5371	9.96	0.41691	0.1553:0.0:0.8447:0.0	.	290	Q96NU7	HUTI_HUMAN	K	290	ENSP00000266736:E290K	ENSP00000266736:E290K	E	+	1	0	AMDHD1	94880318	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	4.903000	0.63272	1.276000	0.44395	0.561000	0.74099	GAA	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI		0.537	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	G	NM_152435		96356187	1	no_errors	ENST00000266736	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96356187	G	A	96356187	3	1	160	1	0	0	0	0	1	0	0	0	567	1291	45	1	890	1	AMDHD1	12	96356187	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	56020	96356187	37495708	1438	29711										
C12orf63	144535	genome.wustl.edu	37	chr12	97147670	97147670	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaagctgaaatcctttttCagaaaggtaaaatgcatctg	9	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:97147670C>G	ENST00000524981.4	+	56	7857	c.7834C>G	c.(7834-7836)Cag>Gag	p.Q2612E				Q96N23	CL055_HUMAN		0																	AATCCTTTTTCAGAAAGGTAA	0.403																																																	0													94	87	89					12																	97147670		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.7834C>G	12.37:g.97147670C>G	ENSP00000431759:p.Gln2612Glu			Missense_Mutation	SNP	NULL	p.Q1037E	ENST00000524981.4	37	c.3109		12	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869135	0.32977	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.09	4.14	0.48551	.	0.424311	0.23369	N	0.048932	T	0.40546	0.1121	L	0.38531	1.155	0.27749	N	0.944233	B	0.23891	0.093	B	0.23574	0.047	T	0.45673	-0.9245	9	0.66056	D	0.02	-2.418	15.2611	0.73625	0.0:0.8598:0.1402:0.0	.	1037	Q6ZTY8	CL063_HUMAN	E	2612;1037	.	ENSP00000345466:Q1037E	Q	+	1	0	C12orf63	95671801	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.537000	0.45702	2.530000	0.85305	0.462000	0.41574	CAG	C12orf55	-	NULL		0.403	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97147670	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97147670	C	G	97147670	3	3	160	1	0	0	0	0	1	0	0	0	1710	827	29	1	3195	1	C12orf63	12	97147670	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	791483	97147670	36704225	1439	29712										
APAF1	317	genome.wustl.edu	37	chr12	99120964	99120964	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tatgtagatatggaatgtctCaaacggtgagcttcttcatt	9	6	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:99120964C>G	ENST00000551964.1	+	26	4206	c.3470C>G	c.(3469-3471)tCa>tGa	p.S1157*	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Nonsense_Mutation_p.S1146*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.S1114*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.S1072*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.S1103*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.S1072*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Nonsense_Mutation_p.S1114*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGGAATGTCTCAAACGGTGAG	0.393																																																	0													112	112	112					12																	99120964		2203	4300	6503	SO:0001587	stop_gained	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3470C>G	12.37:g.99120964C>G	ENSP00000448165:p.Ser1157*		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S1157*	ENST00000551964.1	37	c.3470	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.591896	0.99214	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.24	4.36	0.52297	.	0.791890	0.11841	N	0.524274	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.9321	5.901	0.18965	0.1548:0.676:0.0:0.1693	.	.	.	.	X	1157;1103;1114;1072;1146;1114;1072	.	ENSP00000341830:S1072X	S	+	2	0	APAF1	97645095	0.824000	0.29247	0.713000	0.30519	0.090000	0.18270	1.689000	0.37700	1.216000	0.43427	-0.142000	0.14014	TCA	APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99120964	1	no_errors	ENST00000551964	ensembl	human	known	70_37	nonsense	SNP	0.706	G	G	99120964	C	G	99120964	4	3	160	1	0	0	0	0	0	1	0	0	755	838	29	1	3568	1	APAF1	12	99120964	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1973294	99120964	34730931	1440	29713										
ACTR6	64431	genome.wustl.edu	37	chr12	100617638	100617638	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaagatatggtggtaacaaGagaagattacgaagaaaatg	12	2	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:100617638G>A	ENST00000188312.2	+	11	1901	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	ACTR6_ENST00000552376.1_Missense_Mutation_p.R359K|ACTR6_ENST00000551617.1_Missense_Mutation_p.R277K|ACTR6_ENST00000546902.1_Missense_Mutation_p.R297K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	379						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GTGGTAACAAGAGAAGATTAC	0.328																																																	0													123	125	125					12																	100617638		2203	4300	6503	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1136G>A	12.37:g.100617638G>A	ENSP00000188312:p.Arg379Lys		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R379K	ENST00000188312.2	37	c.1136	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891926	0.72524	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.92249	-3.0;-3.0;3.25;3.25	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	N	0.17278	0.47	0.80722	D	1	B;B;B	0.25351	0.124;0.1;0.122	B;B;B	0.25884	0.024;0.038;0.064	T	0.80274	-0.1451	10	0.02654	T	1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	277;359;379	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	K	379;297;359;277	ENSP00000188312:R379K;ENSP00000448669:R297K;ENSP00000447237:R359K;ENSP00000448356:R277K	ENSP00000188312:R379K	R	+	2	0	ACTR6	99141769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.260000	0.95568	2.824000	0.97209	0.655000	0.94253	AGA	ACTR6	-	pfam_Actin-like,smart_Actin-like		0.328	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	G	NM_022496		100617638	1	no_errors	ENST00000188312	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100617638	G	A	100617638	3	1	160	1	0	0	0	0	1	0	0	0	216	942	33	1	1178	1	ACTR6	12	100617638	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1496674	100617638	33234257	1441	29714										
DEPDC4	120863	genome.wustl.edu	37	chr12	100657593	100657593	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtaaatgatgcctccttCtttttatttccacttgggcc	6	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:100657593C>G	ENST00000416321.1	-	2	238	c.236G>C	c.(235-237)aGa>aCa	p.R79T		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	79	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						ATGCCTCCTTCTTTTTATTTC	0.398																																																	0													139	130	133					12																	100657593		2203	4300	6503	SO:0001583	missense	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.236G>C	12.37:g.100657593C>G	ENSP00000396234:p.Arg79Thr		Q496C8|Q96BW0	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R79T	ENST00000416321.1	37	c.236	CCDS9075.1	12	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137419	0.56936	.	.	ENSG00000166153	ENST00000422147;ENST00000416321;ENST00000550587;ENST00000551642	T;T;T	0.12984	2.63;2.63;2.63	4.65	2.82	0.32997	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	M	0.67397	2.05	0.24340	N	0.994966	P;P	0.49307	0.922;0.922	P;P	0.52386	0.697;0.533	T	0.05178	-1.0901	9	0.51188	T	0.08	.	9.7138	0.40263	0.0:0.8272:0.0:0.1728	.	79;79	E9PGM3;Q8N2C3	.;DEPD4_HUMAN	T	79;79;79;72	ENSP00000396234:R79T;ENSP00000448385:R79T;ENSP00000449590:R72T	ENSP00000367490:R79T	R	-	2	0	DEPDC4	99181724	0.524000	0.26282	0.491000	0.27477	0.754000	0.42855	0.675000	0.25232	0.408000	0.25621	-0.259000	0.10710	AGA	DEPDC4	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.398	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	C	NM_152317		100657593	-1	no_errors	ENST00000378244	ensembl	human	known	70_37	missense	SNP	0.998	G	G	100657593	C	G	100657593	3	3	160	1	0	0	0	0	1	0	0	0	4451	913	32	1	664	1	DEPDC4	12	100657593	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	39955	100657593	33194302	1442	29715										
NUP37	79023	genome.wustl.edu	37	chr12	102505983	102505983	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttcgaagtgttttatactGaatgccttcaacgtctgctt	8	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:102505983G>C	ENST00000552283.1	-	3	323	c.184C>G	c.(184-186)Cag>Gag	p.Q62E	NUP37_ENST00000251074.1_Missense_Mutation_p.Q62E|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	62					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GTTTTATACTGAATGCCTTCA	0.358																																																	0													166	142	150					12																	102505983		2203	4300	6503	SO:0001583	missense	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.184C>G	12.37:g.102505983G>C	ENSP00000448054:p.Gln62Glu		Q9H644	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q62E	ENST00000552283.1	37	c.184	CCDS9089.1	12	.	.	.	.	.	.	.	.	.	.	G	2.017	-0.425600	0.04701	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T	0.27720	1.65;1.65	5.43	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.110360	0.64402	D	0.000010	T	0.10551	0.0258	N	0.01438	-0.865	0.35014	D	0.757218	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17715	-1.0360	10	0.13108	T	0.6	-3.1602	9.8599	0.41107	0.0734:0.1396:0.787:0.0	.	62;62	B4DKV8;Q8NFH4	.;NUP37_HUMAN	E	62	ENSP00000448054:Q62E;ENSP00000251074:Q62E	ENSP00000251074:Q62E	Q	-	1	0	NUP37	101030113	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	4.768000	0.62293	1.417000	0.47077	0.585000	0.79938	CAG	NUP37	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.358	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP37	HGNC	protein_coding	OTTHUMT00000409330.1	G	NM_024057		102505983	-1	no_errors	ENST00000251074	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102505983	G	C	102505983	3	2	160	1	0	0	0	0	1	0	0	0	10788	1299	45	1	828	1	NUP37	12	102505983	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1848390	102505983	31345912	1443	29716										
WSCD2	9671	genome.wustl.edu	37	chr12	108600142	108600142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttttttgactacaaaaaGatgaccatcttccgttgcca	5	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:108600142G>C	ENST00000332082.4	+	4	1277	c.459G>C	c.(457-459)aaG>aaC	p.K153N	WSCD2_ENST00000547525.1_Missense_Mutation_p.K153N|WSCD2_ENST00000261400.3_Missense_Mutation_p.K153N|WSCD2_ENST00000549903.1_Missense_Mutation_p.K153N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	153	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTACAAAAAGATGACCATCT	0.517																																																	0													79	80	79					12																	108600142		1918	4117	6035	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.459G>C	12.37:g.108600142G>C	ENSP00000331933:p.Lys153Asn		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.K153N	ENST00000332082.4	37	c.459	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469142	0.84533	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.29	5.29	0.74685	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.049184	0.85682	D	0.000000	T	0.60805	0.2297	L	0.41710	1.295	0.58432	D	0.999999	D	0.56746	0.977	P	0.57057	0.812	T	0.62863	-0.6764	10	0.59425	D	0.04	-39.6926	17.5137	0.87767	0.0:0.0:1.0:0.0	.	153	Q2TBF2	WSCD2_HUMAN	N	153	ENSP00000448047:K153N;ENSP00000261400:K153N;ENSP00000331933:K153N;ENSP00000447272:K153N	ENSP00000261400:K153N	K	+	3	2	WSCD2	107124272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.922000	0.70036	2.480000	0.83734	0.650000	0.86243	AAG	WSCD2	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd		0.517	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108600142	1	no_errors	ENST00000261400	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108600142	G	C	108600142	3	2	160	1	0	0	0	0	1	0	0	0	17438	933	33	1	465	1	WSCD2	12	108600142	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6094159	108600142	25251753	1444	29717										
CMKLR1	1240	genome.wustl.edu	37	chr12	108685989	108685989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttcttggtcttggccaggcGgttgcgctgcagtttgcaca	13	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:108685989G>A	ENST00000312143.7	-	3	1114	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CMKLR1_ENST00000397688.2_Missense_Mutation_p.R249C|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R251C|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R251C|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R249C	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	251					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R249C(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTGGCCAGGCGGTTGCGCTGC	0.542																																																	1	Substitution - Missense(1)	pancreas(1)											74	81	78					12																	108685989		2110	4233	6343	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.751C>T	12.37:g.108685989G>A	ENSP00000311733:p.Arg251Cys		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.R251C	ENST00000312143.7	37	c.751	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	18.31	3.595690	0.66219	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.45	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.242088	0.40908	D	0.000994	T	0.66694	0.2815	M	0.87971	2.92	0.53005	D	0.999964	D	0.89917	1.0	D	0.80764	0.994	T	0.70699	-0.4800	10	0.52906	T	0.07	.	12.6598	0.56808	0.0:0.0:0.706:0.294	.	251	Q99788	CML1_HUMAN	C	251;251;249;249;251	ENSP00000311733:R251C;ENSP00000401293:R251C;ENSP00000380803:R249C;ENSP00000447579:R249C;ENSP00000449716:R251C	ENSP00000311733:R251C	R	-	1	0	CMKLR1	107210119	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.166000	0.50785	2.563000	0.86464	0.550000	0.68814	CGC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_Frt_met_rcpt,prints_Anphylx_rcpt		0.542	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685989	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108685989	G	A	108685989	3	1	160	1	0	0	0	0	1	0	0	0	3584	1116	39	2	374	2	CMKLR1	12	108685989	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	85847	108685989	25165906	1445	29718										
SART3	9733	genome.wustl.edu	37	chr12	108923992	108923992	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgggcctctgatctttttCttcttttttaacgctttctt	5	10	6	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:108923992C>G	ENST00000228284.3	-	15	2076	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	SART3_ENST00000431469.2_Missense_Mutation_p.K578N	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	614	Poly-Lys.|Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TGATCTTTTTCTTCTTTTTTA	0.473									Porokeratosis																																								0													149	136	140					12																	108923992		2203	4300	6503	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1842G>C	12.37:g.108923992C>G	ENSP00000228284:p.Lys614Asn		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.K614N	ENST00000228284.3	37	c.1842	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406200	0.25378	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.57752	2.4;2.27;0.38	6.03	4.12	0.48240	.	0.607647	0.19128	N	0.122001	T	0.26412	0.0645	N	0.14661	0.345	0.80722	D	1	P;B;B;B	0.41265	0.744;0.007;0.003;0.003	B;B;B;B	0.35813	0.211;0.005;0.002;0.003	T	0.05146	-1.0903	10	0.23891	T	0.37	-37.2455	2.6589	0.05020	0.1366:0.4754:0.2362:0.1518	.	562;632;578;614	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	N	614;578;190;562;632	ENSP00000228284:K614N;ENSP00000414453:K578N;ENSP00000449386:K632N	ENSP00000228284:K614N	K	-	3	2	SART3	107448122	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	1.330000	0.33781	1.552000	0.49463	0.655000	0.94253	AAG	SART3	-	NULL		0.473	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	C			108923992	-1	no_errors	ENST00000228284	ensembl	human	known	70_37	missense	SNP	0.988	G	G	108923992	C	G	108923992	3	3	160	1	0	0	0	0	1	0	0	0	13877	912	32	1	1069	1	SART3	12	108923992	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	238003	108923992	24927903	1446	29719										
ATP2A2	488	genome.wustl.edu	37	chr12	110782767	110782767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtggtccaagagtgtccttCtaccagctggtactcagtca	11	11	3	1	rs538399392		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:110782767C>G	ENST00000539276.2	+	17	2707	c.2598C>G	c.(2596-2598)ttC>ttG	p.F866L	ATP2A2_ENST00000395494.2_Missense_Mutation_p.F839L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.F866L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	866					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTGTCCTTCTACCAGCTGG	0.498													C|||	1	0.000199681	0	0	5008	,	,		22967	0		0.001	False		,,,				2504	0																0													256	174	202					12																	110782767		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2598C>G	12.37:g.110782767C>G	ENSP00000440045:p.Phe866Leu		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.F866L	ENST00000539276.2	37	c.2598	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038720|3.038720	0.55003|0.55003	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.86956|.	-2.19;-2.19;-2.19|.	5.63|5.63	5.63|5.63	0.86233|0.86233	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.095179|.	0.64402|.	D|.	0.000001|.	T|T	0.65565|0.65565	0.2703|0.2703	L|L	0.58925|0.58925	1.835|1.835	0.41614|0.41614	D|D	0.988927|0.988927	B;B;B|.	0.10296|.	0.002;0.001;0.003|.	B;B;B|.	0.17979|.	0.012;0.007;0.02|.	T|T	0.62937|0.62937	-0.6748|-0.6748	10|5	0.45353|.	T|.	0.12|.	.|.	13.7404|13.7404	0.62845|0.62845	0.0:0.9206:0.0:0.0794|0.0:0.9206:0.0:0.0794	.|.	839;866;866|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	L|V	866;839;866|757	ENSP00000311186:F866L;ENSP00000378872:F839L;ENSP00000440045:F866L|.	ENSP00000311186:F866L|.	F|L	+|+	3|1	2|2	ATP2A2|ATP2A2	109267150|109267150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	0.872000|0.872000	0.28037|0.28037	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	TTC|CTA	ATP2A2	-	pfam_ATPase_P-typ_cation-transptr_C		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	C	NM_001681		110782767	1	no_errors	ENST00000539276	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110782767	C	G	110782767	3	3	160	1	0	0	0	0	1	0	0	0	1138	912	32	1	2664	1	ATP2A2	12	110782767	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1858775	110782767	23069128	1447	29720										
CCDC63	160762	genome.wustl.edu	37	chr12	111318975	111318975	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgccagaagaaggacacctCtcagtacaacctggagatcc	9	14	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:111318975C>G	ENST00000308208.5	+	7	970	c.728C>G	c.(727-729)tCt>tGt	p.S243C	CCDC63_ENST00000545036.1_Missense_Mutation_p.S203C|CCDC63_ENST00000552694.1_Missense_Mutation_p.S164C|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	243										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAGGACACCTCTCAGTACAAC	0.552																																																	0													84	70	75					12																	111318975		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.728C>G	12.37:g.111318975C>G	ENSP00000312399:p.Ser243Cys		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.S243C	ENST00000308208.5	37	c.728	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156877	0.38119	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.22945	1.93;1.93;1.93	4.65	3.74	0.42951	.	0.633406	0.16712	N	0.202658	T	0.20941	0.0504	L	0.40543	1.245	0.27299	N	0.95764	B	0.15473	0.013	B	0.12156	0.007	T	0.08310	-1.0728	10	0.54805	T	0.06	.	9.4927	0.38969	0.0:0.8985:0.0:0.1015	.	243	Q8NA47	CCD63_HUMAN	C	203;243;164	ENSP00000445881:S203C;ENSP00000312399:S243C;ENSP00000450217:S164C	ENSP00000312399:S243C	S	+	2	0	CCDC63	109803358	0.923000	0.31300	0.998000	0.56505	0.981000	0.71138	0.653000	0.24902	2.297000	0.77311	0.505000	0.49811	TCT	CCDC63	-	NULL		0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	C	NM_152591		111318975	1	no_errors	ENST00000308208	ensembl	human	known	70_37	missense	SNP	0.994	G	G	111318975	C	G	111318975	3	3	160	1	0	0	0	0	1	0	0	0	2839	913	32	1	750	1	CCDC63	12	111318975	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	536208	111318975	22532920	1448	29721										
ATXN2	6311	genome.wustl.edu	37	chr12	111893951	111893951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtggcgactgcgtgttgGaggcaggtgtcatggagggt	19	6	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:111893951G>C	ENST00000377617.3	-	23	3787	c.3626C>G	c.(3625-3627)tCc>tGc	p.S1209C	ATXN2_ENST00000389153.4_Missense_Mutation_p.S946C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S902C|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.S944C|ATXN2_ENST00000608853.1_Missense_Mutation_p.S1049C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1209					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCGTGTTGGAGGCAGGTGT	0.597																																																	0													329	289	303					12																	111893951		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3626C>G	12.37:g.111893951G>C	ENSP00000366843:p.Ser1209Cys		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S1209C	ENST00000377617.3	37	c.3626	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471028	0.84533	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.66460	-0.21	5.95	5.95	0.96441	.	0.054903	0.85682	D	0.000000	T	0.71178	0.3309	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999	D;D;P;D;P	0.69142	0.935;0.962;0.788;0.936;0.871	T	0.75175	-0.3410	10	0.66056	D	0.02	-10.4975	20.3789	0.98926	0.0:0.0:1.0:0.0	.	210;1209;902;944;946	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	C	264;946;1209;210;944;902;134	ENSP00000366843:S1209C	ENSP00000366843:S1209C	S	-	2	0	ATXN2	110378334	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.847000	0.92166	2.826000	0.97356	0.563000	0.77884	TCC	ATXN2	-	NULL		0.597	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	G	NM_002973		111893951	-1	no_errors	ENST00000377617	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111893951	G	C	111893951	3	2	160	1	0	0	0	0	1	0	0	0	1212	1174	41	1	327	1	ATXN2	12	111893951	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	574976	111893951	21957944	1449	29722										
NAA25	80018	genome.wustl.edu	37	chr12	112486241	112486241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaagcttgaataatatattCtgaggtctgagaaggaaaga	11	3	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112486241C>G	ENST00000261745.4	-	16	1983	c.1735G>C	c.(1735-1737)Gaa>Caa	p.E579Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	579						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAATATATTCTGAGGTCTGA	0.363																																																	0													87	86	87					12																	112486241		2203	4300	6503	SO:0001583	missense	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1735G>C	12.37:g.112486241C>G	ENSP00000261745:p.Glu579Gln		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.E579Q	ENST00000261745.4	37	c.1735	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422185	0.83559	.	.	ENSG00000111300	ENST00000261745	T	0.48522	0.81	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68477	-0.5398	10	0.45353	T	0.12	-15.6721	19.5841	0.95484	0.0:1.0:0.0:0.0	.	579;579	A8K8X0;Q14CX7	.;NAA25_HUMAN	Q	579	ENSP00000261745:E579Q	ENSP00000261745:E579Q	E	-	1	0	NAA25	110970624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.604000	0.88044	0.655000	0.94253	GAA	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.363	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	C	NM_024953		112486241	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	missense	SNP	1.000	G	G	112486241	C	G	112486241	3	3	160	1	0	0	0	0	1	0	0	0	10144	922	32	1	1219	1	NAA25	12	112486241	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	592290	112486241	21365654	1450	29723										
NAA25	80018	genome.wustl.edu	37	chr12	112499082	112499082	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacaagccaagtaacctcgtCagctgcaccacacacaaatg	6	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112499082C>G	ENST00000261745.4	-	12	1508	c.1260G>C	c.(1258-1260)ctG>ctC	p.L420L	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	420						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTAACCTCGTCAGCTGCACCA	0.463																																																	0													115	101	106					12																	112499082		2203	4300	6503	SO:0001819	synonymous_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1260G>C	12.37:g.112499082C>G			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L420	ENST00000261745.4	37	c.1260	CCDS9159.1	12																																																																																			NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.463	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	C	NM_024953		112499082	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	silent	SNP	1.000	G	G	112499082	C	G	112499082	2	3	160	1	0	0	0	0	0	0	0	1	10144	813	29	1		1	NAA25	12	112499082	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	12841	112499082	21352813	1451	29724										
NAA25	80018	genome.wustl.edu	37	chr12	112530885	112530885	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaagatccttatgtttcttCaacagtttatctgcttgctg	7	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112530885C>T	ENST00000261745.4	-	2	362	c.114G>A	c.(112-114)ttG>ttA	p.L38L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	38						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TATGTTTCTTCAACAGTTTAT	0.313																																																	0													139	122	128					12																	112530885		2202	4300	6502	SO:0001819	synonymous_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.114G>A	12.37:g.112530885C>T			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L38	ENST00000261745.4	37	c.114	CCDS9159.1	12																																																																																			NAA25	-	pfscan_TPR-contain_dom		0.313	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	C	NM_024953		112530885	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112530885	C	T	112530885	2	4	160	1	0	0	0	0	0	0	0	1	10144	825	29	1		1	NAA25	12	112530885	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	31803	112530885	21321010	1452	29725										
C12orf51	283450	genome.wustl.edu	37	chr12	112752316	112752316	+	De_novo_Start_OutOfFrame	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccgtctgtttctgtaataGatggactgtgtggacgaaag	12	6	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:112752316G>C	ENST00000430131.2	-	0	693				HECTD4_ENST00000377560.5_Missense_Mutation_p.L100V|HECTD4_ENST00000550722.1_Missense_Mutation_p.L100V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTGTAATAGATGGACTGTG	0.373																																																	0																																												283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.-453C>G	12.37:g.112752316G>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L100V	ENST00000430131.2	37	c.298		12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138816	0.77775	.	.	ENSG00000173064	ENST00000377560;ENST00000550722	D;D	0.93247	-3.19;-3.19	5.94	5.06	0.68205	.	.	.	.	.	D	0.90222	0.6943	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	D	0.90607	0.4549	7	0.87932	D	0	.	11.0691	0.47993	0.1406:0.0:0.8594:0.0	.	.	.	.	V	100	ENSP00000366783:L100V;ENSP00000449784:L100V	ENSP00000366783:L100V	L	-	1	2	C12orf51	111236699	1.000000	0.71417	0.931000	0.37212	0.929000	0.56500	6.360000	0.73064	1.529000	0.49120	0.650000	0.86243	CTA	HECTD4	-	NULL		0.373	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112752316	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112752316	G	C	112752316	1	2	160	1	0	1	0	0	0	0	0	0	1700	933	33	1		1	C12orf51	12	112752316	De_novo_Start_OutOfFrame	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	221431	112752316	21099579	1453	29726										
FBXO21	23014	genome.wustl.edu	37	chr12	117610280	117610280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtcacggatgctcacccttCtgcgccttggcaccacctta	8	16	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:117610280C>G	ENST00000330622.5	-	7	1008	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	FBXO21_ENST00000427718.2_Missense_Mutation_p.E337Q|FBXO21_ENST00000549689.1_5'Flank			O94952	FBX21_HUMAN	F-box protein 21	337					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTCACCCTTCTGCGCCTTGG	0.498																																					GBM(168;452 2038 13535 17701 43680)												0													124	109	114					12																	117610280		2203	4300	6503	SO:0001583	missense	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1009G>C	12.37:g.117610280C>G	ENSP00000328187:p.Glu337Gln		B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.E337Q	ENST00000330622.5	37	c.1009	CCDS9184.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.998603|1.998603	0.35226|0.35226	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.49720|.	0.77;0.77|.	5.45|5.45	4.56|4.56	0.56223|0.56223	F-box domain, Skp2-like (1);|.	0.276441|.	0.41396|.	D|.	0.000897|.	T|T	0.44393|0.44393	0.1291|0.1291	L|L	0.45051|0.45051	1.395|1.395	0.31919|0.31919	N|N	0.613647|0.613647	B;B;B|.	0.22146|.	0.065;0.026;0.032|.	B;B;B|.	0.19391|.	0.022;0.025;0.008|.	T|T	0.50659|0.50659	-0.8802|-0.8802	10|5	0.17832|.	T|.	0.49|.	.|.	6.8487|6.8487	0.24003|0.24003	0.0:0.7035:0.152:0.1445|0.0:0.7035:0.152:0.1445	.|.	253;337;337|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	Q|T	337;253;253;337|280	ENSP00000414468:E337Q;ENSP00000328187:E337Q|.	ENSP00000257563:E253Q|.	E|R	-|-	1|2	0|0	FBXO21|FBXO21	116094663|116094663	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.764000|1.764000	0.38471|0.38471	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GAA|AGA	FBXO21	-	superfamily_F-box_dom_cyclin-like		0.498	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	C	NM_033624		117610280	-1	no_errors	ENST00000330622	ensembl	human	known	70_37	missense	SNP	0.932	G	G	117610280	C	G	117610280	3	3	160	1	0	0	0	0	1	0	0	0	5751	922	32	1	901	1	FBXO21	12	117610280	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4857964	117610280	16241615	1454	29727										
SUDS3	64426	genome.wustl.edu	37	chr12	118852228	118852228	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttcgtgatccgccggcgctCagctgcttgactttctacag	10	14	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:118852228C>G	ENST00000543473.1	+	12	1289	c.977C>G	c.(976-978)tCa>tGa	p.S326*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.S327*	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	326					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCCGGCGCTCAGCTGCTTGA	0.483																																																	0													27	25	26					12																	118852228		1868	4102	5970	SO:0001587	stop_gained	64426			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.977C>G	12.37:g.118852228C>G	ENSP00000443988:p.Ser326*		Q4KMQ5|Q8N6H0|Q9H8D2	Nonsense_Mutation	SNP	pfam_Sds3	p.S327*	ENST00000543473.1	37	c.980	CCDS44993.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.578859	0.96565	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.44295	D	0.997164	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.5809	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	326;327	.	ENSP00000380695:S327X	S	+	2	0	SUDS3	117336611	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.255000	0.78338	2.688000	0.91661	0.655000	0.94253	TCA	SUDS3	-	NULL		0.483	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SUDS3	HGNC	protein_coding	OTTHUMT00000401504.1	C	NM_022491		118852228	1	no_errors	ENST00000397564	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	118852228	C	G	118852228	4	3	160	1	0	0	0	0	0	1	0	0	15397	838	29	1	1023	1	SUDS3	12	118852228	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1241948	118852228	14999667	1455	29728										
CCDC64	92558	genome.wustl.edu	37	chr12	120518757	120518757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgactcagagtcacttctGaggacaaggagccaaaggag	12	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:120518757G>A	ENST00000397558.2	+	7	1375	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	CCDC64_ENST00000257583.4_Missense_Mutation_p.E156K|CCDC64_ENST00000446727.2_Missense_Mutation_p.E130K	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	459					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCACTTCTGAGGACAAGGA	0.493																																																	0													72	80	77					12																	120518757		2055	4199	6254	SO:0001583	missense	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1375G>A	12.37:g.120518757G>A	ENSP00000380690:p.Glu459Lys		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	NULL	p.E156K	ENST00000397558.2	37	c.466	CCDS41845.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399574	0.83120	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T;T	0.04970	3.56;3.52;3.59	5.32	5.32	0.75619	.	0.173459	0.49916	D	0.000125	T	0.12817	0.0311	L	0.61218	1.895	0.47778	D	0.999512	D;D;P	0.56287	0.957;0.975;0.86	P;P;B	0.48304	0.535;0.573;0.352	T	0.01326	-1.1384	10	0.39692	T	0.17	-10.4332	14.5869	0.68331	0.0:0.1458:0.8542:0.0	.	156;130;459	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	K	459;130;177;156	ENSP00000380690:E459K;ENSP00000399658:E130K;ENSP00000447477:E177K	ENSP00000257583:E156K	E	+	1	0	CCDC64	119003140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.381000	0.79718	2.492000	0.84095	0.561000	0.74099	GAG	CCDC64	-	NULL		0.493	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC64	HGNC	protein_coding	OTTHUMT00000403390.2	G	NM_207311		120518757	1	no_errors	ENST00000257583	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120518757	G	A	120518757	3	1	160	1	0	0	0	0	1	0	0	0	2840	1291	45	1	1401	1	CCDC64	12	120518757	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1666529	120518757	13333138	1456	29729										
ACADS	35	genome.wustl.edu	37	chr12	121176978	121176978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagctggccgcctcggaggcCgcgaccgccatcagccacca	12	18	1	0	rs697853		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:121176978C>T	ENST00000242592.4	+	9	1216	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	ACADS_ENST00000411593.2_Silent_p.A351A|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	355					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CCTCGGAGGCCGCGACCGCCA	0.667																																																	0								C		1,4329		0,1,2164	28	27	27		1065	-4.7	0.9	12	dbSNP_86	27	1,8447		0,1,4223	no	coding-synonymous	ACADS	NM_000017.2		0,2,6387	TT,TC,CC		0.0118,0.0231,0.0157		355/413	121176978	2,12776	2165	4224	6389	SO:0001819	synonymous_variant	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1065C>T	12.37:g.121176978C>T			P78331	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.A355	ENST00000242592.4	37	c.1065	CCDS9207.1	12																																																																																			ACADS	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.667	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	C	NM_000017		121176978	1	no_errors	ENST00000242592	ensembl	human	known	70_37	silent	SNP	0.911	T	T	121176978	C	T	121176978	2	4	160	1	0	0	0	0	0	0	0	1	114	639	23	2		2	ACADS	12	121176978	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	658221	121176978	12674917	1457	29730										
ACADS	35	genome.wustl.edu	37	chr12	121177133	121177133	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcggcatgggctacgtgaCagagatgccggcagagcggc	19	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:121177133C>G	ENST00000242592.4	+	10	1272	c.1121C>G	c.(1120-1122)aCa>aGa	p.T374R	ACADS_ENST00000411593.2_Missense_Mutation_p.T370R|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	374					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GGCTACGTGACAGAGATGCCG	0.642																																																	0													27	29	28					12																	121177133		2199	4298	6497	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1121C>G	12.37:g.121177133C>G	ENSP00000242592:p.Thr374Arg		P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.T374R	ENST00000242592.4	37	c.1121	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	C	8.487	0.861138	0.17178	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.95756	-3.8;-3.8	4.74	3.84	0.44239	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.293921	0.31335	N	0.007840	D	0.84288	0.5439	N	0.01464	-0.85	0.54753	D	0.999983	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.76841	-0.2810	10	0.20046	T	0.44	.	10.0578	0.42255	0.1553:0.695:0.1497:0.0	.	374;374	E5KSD5;P16219	.;ACADS_HUMAN	R	374;370	ENSP00000242592:T374R;ENSP00000401045:T370R	ENSP00000242592:T374R	T	+	2	0	ACADS	119661516	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	4.632000	0.61311	0.983000	0.38602	0.561000	0.74099	ACA	ACADS	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	C	NM_000017		121177133	1	no_errors	ENST00000242592	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121177133	C	G	121177133	3	3	160	1	0	0	0	0	1	0	0	0	114	478	17	4	1159	4	ACADS	12	121177133	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	155	121177133	12674762	1458	29731										
HPD	3242	genome.wustl.edu	37	chr12	122294313	122294313	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccaggtgatcgcccatctCtgtggccggcagggagagga	15	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:122294313C>A	ENST00000289004.4	-	6	277		c.e6-1		RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Splice_Site	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCGCCCATCTCTGTGGCCGGC	0.582																																																	0													153	110	125					12																	122294313		2203	4300	6503	SO:0001630	splice_region_variant	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.242-1G>T	12.37:g.122294313C>A			A8K461|B3KQ63|Q13234	Splice_Site	SNP	-	e6-1	ENST00000289004.4	37	c.242-1	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270630	0.40194	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4661	0.94943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPD	120778696	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.300000	0.78841	2.672000	0.90937	0.555000	0.69702	.	HPD	-	-		0.582	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	C	NM_002150	Intron	122294313	-1	no_errors	ENST00000289004	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	122294313	C	A	122294313	5	1	160	1	0	0	0	0	0	0	1	0	7352	927	32	3	976	3	HPD	12	122294313	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1117180	122294313	11557582	1459	29732										
WDR66	144406	genome.wustl.edu	37	chr12	122361672	122361672	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacaacagattagttcccctGaaaggcagccctcaggagag	10	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:122361672G>A	ENST00000288912.4	+	3	1377	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	WDR66_ENST00000397454.2_Missense_Mutation_p.E175K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	175							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGTTCCCCTGAAAGGCAGCC	0.468																																					Esophageal Squamous(85;849 1794 49757 52143)												0													103	97	99					12																	122361672		1853	4086	5939	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.523G>A	12.37:g.122361672G>A	ENSP00000288912:p.Glu175Lys		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E175K	ENST00000288912.4	37	c.523	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	13.71	2.316992	0.40996	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.16597	2.33;2.33	3.78	-0.576	0.11731	.	1.473130	0.04551	N	0.389956	T	0.12263	0.0298	L	0.27053	0.805	0.09310	N	1	B	0.23377	0.084	B	0.24155	0.051	T	0.33650	-0.9860	10	0.44086	T	0.13	.	4.4932	0.11824	0.2219:0.3562:0.422:0.0	.	175	Q8TBY9	WDR66_HUMAN	K	175	ENSP00000288912:E175K;ENSP00000380595:E175K	ENSP00000288912:E175K	E	+	1	0	WDR66	120846055	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	0.264000	0.18497	-0.243000	0.09653	0.460000	0.39030	GAA	WDR66	-	NULL		0.468	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	G	NM_144668		122361672	1	no_errors	ENST00000288912	ensembl	human	known	70_37	missense	SNP	0.000	A	A	122361672	G	A	122361672	3	1	160	1	0	0	0	0	1	0	0	0	17348	1291	45	1	529	1	WDR66	12	122361672	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	67359	122361672	11490223	1460	29733										
CLIP1	6249	genome.wustl.edu	37	chr12	122862424	122862424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgctccccaactcgaaagtCatccacaaattcctcctgag	5	16	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:122862424C>T	ENST00000540338.1	-	2	210	c.169G>A	c.(169-171)Gac>Aac	p.D57N	CLIP1_ENST00000358808.2_Missense_Mutation_p.D57N|CLIP1_ENST00000537178.1_Missense_Mutation_p.D57N|CLIP1_ENST00000361654.4_Missense_Mutation_p.D57N|CLIP1_ENST00000302528.7_Missense_Mutation_p.D57N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	57					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTCGAAAGTCATCCACAAAT	0.443																																																	0													160	169	166					12																	122862424		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.169G>A	12.37:g.122862424C>T	ENSP00000439093:p.Asp57Asn		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.D57N	ENST00000540338.1	37	c.169	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261702	0.59431	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004;ENST00000535290;ENST00000539080	T;T;T;T;T;T;D;T	0.84873	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-1.91;0.77	5.68	5.68	0.88126	Cytoskeleton-associated protein, Gly-rich domain (2);	0.103125	0.64402	D	0.000001	D	0.88429	0.6434	M	0.61703	1.905	0.45883	D	0.99873	B;B;B;B	0.24963	0.026;0.115;0.115;0.016	B;B;B;B	0.40864	0.057;0.342;0.342;0.034	D	0.84690	0.0722	10	0.39692	T	0.17	-26.5583	19.791	0.96456	0.0:1.0:0.0:0.0	.	57;57;57;57	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	N	57	ENSP00000303585:D57N;ENSP00000351665:D57N;ENSP00000445531:D57N;ENSP00000439093:D57N;ENSP00000437786:D57N;ENSP00000441409:D57N;ENSP00000439472:D57N;ENSP00000445387:D57N	ENSP00000303585:D57N	D	-	1	0	CLIP1	121428377	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.719000	0.54926	2.677000	0.91161	0.491000	0.48974	GAC	CLIP1	-	superfamily_CAP-Gly_domain		0.443	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	C	NM_002956		122862424	-1	no_errors	ENST00000540338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122862424	C	T	122862424	3	4	160	1	0	0	0	0	1	0	0	0	3537	826	29	1	4206	1	CLIP1	12	122862424	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	500752	122862424	10989471	1461	29734										
GPR109A	338442	genome.wustl.edu	37	chr12	123187019	123187019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaagaacgccaggtccaccGagcggtacacttcacaattc	8	13	1	1	rs199788788		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:123187019G>C	ENST00000328880.5	-	1	871	c.812C>G	c.(811-813)tCg>tGg	p.S271W	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	271					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAGGTCCACCGAGCGGTACAC	0.542																																																	0													46	42	44					12																	123187019		2203	4294	6497	SO:0001583	missense	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.812C>G	12.37:g.123187019G>C	ENSP00000375066:p.Ser271Trp		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.S271W	ENST00000328880.5	37	c.812	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974299	0.18736	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.72615	-0.67	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.353602	0.24014	N	0.042349	T	0.81616	0.4860	M	0.74467	2.265	0.18873	N	0.999981	D	0.76494	0.999	D	0.80764	0.994	T	0.72343	-0.4322	10	0.38643	T	0.18	-17.3605	11.7461	0.51821	0.0:0.1777:0.8223:0.0	.	271	Q8TDS4	HCAR2_HUMAN	W	271	ENSP00000375066:S271W	ENSP00000375066:S271W	S	-	2	0	HCAR2	121752972	0.004000	0.15560	0.114000	0.21550	0.021000	0.10359	0.531000	0.23052	2.746000	0.94184	0.563000	0.77884	TCG	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	G	NM_177551		123187019	-1	no_errors	ENST00000328880	ensembl	human	known	70_37	missense	SNP	0.039	C	C	123187019	G	C	123187019	3	2	160	1	0	0	0	0	1	0	0	0	6644	1059	37	1	283	1	GPR109A	12	123187019	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	324595	123187019	10664876	1462	29735										
RILPL2	196383	genome.wustl.edu	37	chr12	123920680	123920680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcccctccacctccttcctGaggtggtccctctccatctt	6	19	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:123920680G>A	ENST00000280571.8	-	1	584	c.288C>T	c.(286-288)ctC>ctT	p.L96L		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	96					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCTCCTTCCTGAGGTGGTCCC	0.682																																																	0													21	19	19					12																	123920680		2199	4300	6499	SO:0001819	synonymous_variant	196383			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.288C>T	12.37:g.123920680G>A				Silent	SNP	pfam_RILP	p.L96	ENST00000280571.8	37	c.288	CCDS9248.1	12																																																																																			RILPL2	-	NULL		0.682	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL2	HGNC	protein_coding		G	NM_145058		123920680	-1	no_errors	ENST00000280571	ensembl	human	known	70_37	silent	SNP	0.000	A	A	123920680	G	A	123920680	2	1	160	1	0	0	0	0	0	0	0	1	13392	1277	45	1		1	RILPL2	12	123920680	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	733661	123920680	9931215	1463	29736										
TCTN2	79867	genome.wustl.edu	37	chr12	124156119	124156119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgtccctggtcggagacaccGagggtgtgaccgtgtccctg	15	13	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124156119G>A	ENST00000303372.5	+	2	276	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TCTN2_ENST00000426174.2_Missense_Mutation_p.E50K	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	50					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGGAGACACCGAGGGTGTGAC	0.627																																																	0													70	68	68					12																	124156119		2203	4300	6503	SO:0001583	missense	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.148G>A	12.37:g.124156119G>A	ENSP00000304941:p.Glu50Lys		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.E50K	ENST00000303372.5	37	c.148	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166291	0.57476	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83673	-1.75;-1.75	4.5	4.5	0.54988	.	0.331224	0.28062	N	0.016749	T	0.81489	0.4833	M	0.70595	2.14	0.09310	N	1	D;D	0.59357	0.985;0.985	B;B	0.43155	0.41;0.41	T	0.76556	-0.2916	10	0.42905	T	0.14	-24.3895	12.273	0.54716	0.0:0.0:0.8305:0.1695	.	50;50	A8K7Y8;Q96GX1	.;TECT2_HUMAN	K	50	ENSP00000395171:E50K;ENSP00000304941:E50K	ENSP00000304941:E50K	E	+	1	0	TCTN2	122722072	0.996000	0.38824	0.421000	0.26609	0.042000	0.13812	3.304000	0.51866	2.431000	0.82371	0.650000	0.86243	GAG	TCTN2	-	NULL		0.627	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	G	NM_024809		124156119	1	no_errors	ENST00000303372	ensembl	human	known	70_37	missense	SNP	0.211	A	A	124156119	G	A	124156119	3	1	160	1	0	0	0	0	1	0	0	0	15753	1059	37	1	154	1	TCTN2	12	124156119	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	235439	124156119	9695776	1464	29737										
CCDC92	80212	genome.wustl.edu	37	chr12	124428832	124428832	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actctaccttcatcgtaactCgagaaatgtggtgaagtcat	8	9	3	2	rs148809811		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124428832C>G	ENST00000238156.3	-	2	375	c.21G>C	c.(19-21)tcG>tcC	p.S7S	CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498																																																	0													88	86	87					12																	124428832		2203	4300	6503	SO:0001819	synonymous_variant	80212			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.21G>C	12.37:g.124428832C>G			B3KNQ0|Q9H697	Silent	SNP	NULL	p.S7	ENST00000238156.3	37	c.21	CCDS9256.1	12																																																																																			CCDC92	-	NULL		0.498	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	C	NM_025140		124428832	-1	no_errors	ENST00000238156	ensembl	human	known	70_37	silent	SNP	0.000	G	G	124428832	C	G	124428832	2	3	160	1	0	0	0	0	0	0	0	1	2876	871	31	1		1	CCDC92	12	124428832	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	272713	124428832	9423063	1465	29738										
NCOR2	9612	genome.wustl.edu	37	chr12	124821712	124821712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagccgggcgaacgggtgagGaggtggaggtggacctgggg	23	7	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124821712G>A	ENST00000405201.1	-	38	5702	c.5702C>T	c.(5701-5703)tCc>tTc	p.S1901F	NCOR2_ENST00000404621.1_Missense_Mutation_p.S1891F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1891F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1462F|NCOR2_ENST00000356219.3_Missense_Mutation_p.S1908F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1892F			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1912					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AACGGGTGAGGAGGTGGAGGT	0.662																																																	0													13	18	16					12																	124821712		1950	3997	5947	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5702C>T	12.37:g.124821712G>A	ENSP00000384018:p.Ser1901Phe		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1908F	ENST00000405201.1	37	c.5723	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	g	15.93	2.979424	0.53827	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.21932	1.98;2.24;1.98;2.24;1.98;2.24	4.36	4.36	0.52297	.	0.448517	0.19783	U	0.106180	T	0.27967	0.0689	N	0.19112	0.55	0.48185	D	0.999605	D;D;D	0.60575	0.98;0.988;0.98	P;P;P	0.57548	0.649;0.809;0.823	T	0.14504	-1.0470	10	0.62326	D	0.03	-36.4859	16.894	0.86095	0.0:0.0:1.0:0.0	.	1892;1901;1912	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	F	1901;1891;1908;1892;1900;1462;1891	ENSP00000384018:S1901F;ENSP00000384202:S1891F;ENSP00000348551:S1908F;ENSP00000380513:S1892F;ENSP00000385618:S1462F;ENSP00000400281:S1891F	ENSP00000348551:S1908F	S	-	2	0	NCOR2	123387665	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.800000	0.85949	1.958000	0.56883	0.556000	0.70494	TCC	NCOR2	-	NULL		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124821712	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124821712	G	A	124821712	3	1	160	1	0	0	0	0	1	0	0	0	10260	1174	41	1	1882	1	NCOR2	12	124821712	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	392880	124821712	9030183	1466	29739										
NCOR2	9612	genome.wustl.edu	37	chr12	124862910	124862910	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgctttcttcttcttcctCcgcgcgttcctctccttctc	6	18	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:124862910C>T	ENST00000405201.1	-	18	2040	c.2040G>A	c.(2038-2040)cgG>cgA	p.R680R	NCOR2_ENST00000404621.1_Silent_p.R679R|NCOR2_ENST00000429285.2_Silent_p.R679R|NCOR2_ENST00000404121.2_Silent_p.R250R|NCOR2_ENST00000356219.3_Silent_p.R680R|NCOR2_ENST00000397355.1_Silent_p.R680R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	680					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTTCTTCCTCCGCGCGTTCC	0.682																																																	0													30	35	33					12																	124862910		1943	4125	6068	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2040G>A	12.37:g.124862910C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R680	ENST00000405201.1	37	c.2040	CCDS41858.2	12																																																																																			NCOR2	-	NULL		0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124862910	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	silent	SNP	0.974	T	T	124862910	C	T	124862910	2	4	160	1	0	0	0	0	0	0	0	1	10260	842	30	1		1	NCOR2	12	124862910	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	41198	124862910	8988985	1467	29740										
TMEM132B	114795	genome.wustl.edu	37	chr12	125834468	125834468	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggaagtggcagccagctgtCggctgcaaggggccccaggg	19	11	0	0	rs369009903		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:125834468C>G	ENST00000299308.3	+	2	531	c.523C>G	c.(523-525)Cgg>Ggg	p.R175G	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	175						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCAGCTGTCGGCTGCAAGG	0.612																																																	0													55	60	59					12																	125834468		2007	4202	6209	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.523C>G	12.37:g.125834468C>G	ENSP00000299308:p.Arg175Gly		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.R175G	ENST00000299308.3	37	c.523	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237674	0.58886	.	.	ENSG00000139364	ENST00000299308	T	0.13420	2.59	5.34	3.32	0.38043	.	.	.	.	.	T	0.19406	0.0466	M	0.68317	2.08	0.80722	D	1	P	0.47191	0.891	P	0.46685	0.524	T	0.02126	-1.1209	9	0.34782	T	0.22	.	10.2513	0.43370	0.2022:0.7154:0.0:0.0823	.	175	Q14DG7	T132B_HUMAN	G	175	ENSP00000299308:R175G	ENSP00000299308:R175G	R	+	1	2	TMEM132B	124400421	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	1.906000	0.39887	1.250000	0.43966	0.655000	0.94253	CGG	TMEM132B	-	NULL		0.612	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	C	NM_052907		125834468	1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	0.998	G	G	125834468	C	G	125834468	3	3	160	1	0	0	0	0	1	0	0	0	16076	875	31	1	529	1	TMEM132B	12	125834468	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	971558	125834468	8017427	1468	29741										
SFRS8	6433	genome.wustl.edu	37	chr12	132250835	132250835	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagctgggaaaattgaggaGagtcctttcagtgtcgaggt	15	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:132250835G>C	ENST00000261674.4	+	13	2265	c.2124G>C	c.(2122-2124)gaG>gaC	p.E708D	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E708D	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	708					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E708D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAATTGAGGAGAGTCCTTTCA	0.483																																																	1	Substitution - Missense(1)	lung(1)											153	160	158					12																	132250835		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2124G>C	12.37:g.132250835G>C	ENSP00000261674:p.Glu708Asp		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E708D	ENST00000261674.4	37	c.2124	CCDS9273.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.301|9.301	1.053178|1.053178	0.19907|0.19907	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286|ENST00000537164	T;T;T|.	0.25579|.	2.86;1.79;2.87|.	5.49|5.49	-0.195|-0.195	0.13236|0.13236	.|.	0.136248|.	0.64402|.	N|.	0.000004|.	T|T	0.31606|0.31606	0.0802|0.0802	L|L	0.31926|0.31926	0.97|0.97	0.30990|0.30990	N|N	0.721542|0.721542	B;B|.	0.14805|.	0.011;0.007|.	B;B|.	0.16722|.	0.016;0.004|.	T|T	0.39210|0.39210	-0.9625|-0.9625	10|5	0.33940|.	T|.	0.23|.	-27.4178|-27.4178	7.0715|7.0715	0.25181|0.25181	0.2818:0.0:0.5995:0.1186|0.2818:0.0:0.5995:0.1186	.|.	708;708|.	F5H6B8;Q12872|.	.;SFSWA_HUMAN|.	D|T	708;501;708|271	ENSP00000261674:E708D;ENSP00000443045:E501D;ENSP00000437738:E708D|.	ENSP00000261674:E708D|.	E|R	+|+	3|2	2|0	SFSWAP|SFSWAP	130816788|130816788	1.000000|1.000000	0.71417|0.71417	0.505000|0.505000	0.27651|0.27651	0.791000|0.791000	0.44710|0.44710	1.814000|1.814000	0.38972|0.38972	0.263000|0.263000	0.21812|0.21812	0.591000|0.591000	0.81541|0.81541	GAG|AGA	SFSWAP	-	NULL		0.483	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132250835	1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	0.118	C	C	132250835	G	C	132250835	3	2	160	1	0	0	0	0	1	0	0	0	14213	933	33	1	2174	1	SFRS8	12	132250835	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6416367	132250835	1601060	1469	29742										
PUS1	80324	genome.wustl.edu	37	chr12	132425950	132425950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaccgggacgttcaggatGagacctaccgcctgagcgcc	14	13	1	2	rs104894372		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:132425950G>A	ENST00000376649.3	+	5	1158	c.658G>A	c.(658-660)Gag>Aag	p.E220K	PUS1_ENST00000443358.2_Missense_Mutation_p.E192K|PUS1_ENST00000542167.2_Missense_Mutation_p.E167K|PUS1_ENST00000440818.2_Missense_Mutation_p.E192K|PUS1_ENST00000535067.1_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	220					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CGTTCAGGATGAGACCTACCG	0.587																																					Esophageal Squamous(102;671 2009 17384 45666)												0			GRCh37	CM071064	PUS1	M	rs104894372						111	91	98					12																	132425950		2203	4300	6503	SO:0001583	missense	80324			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.658G>A	12.37:g.132425950G>A	ENSP00000365837:p.Glu220Lys		A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.E220K	ENST00000376649.3	37	c.658	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993553	0.35131	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167;ENST00000537484	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.9	5.37	5.37	0.77165	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	0.166916	0.53938	D	0.000055	T	0.50120	0.1597	M	0.66506	2.035	0.32608	N	0.525029	B;B	0.22683	0.05;0.073	B;B	0.18561	0.022;0.017	T	0.55692	-0.8101	10	0.15952	T	0.53	-14.6998	15.4728	0.75453	0.0:0.1388:0.8612:0.0	.	167;220	F5H1S9;Q9Y606	.;TRUA_HUMAN	K	192;220;192;192;167;195	ENSP00000392451:E192K;ENSP00000365837:E220K;ENSP00000324726:E192K;ENSP00000400032:E192K;ENSP00000438948:E167K;ENSP00000440179:E195K	ENSP00000324726:E192K	E	+	1	0	PUS1	130991903	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	3.490000	0.53245	2.524000	0.85096	0.561000	0.74099	GAG	PUS1	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA		0.587	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	HGNC	protein_coding	OTTHUMT00000250313.2	G	NM_025215		132425950	1	no_errors	ENST00000376649	ensembl	human	known	70_37	missense	SNP	0.550	A	A	132425950	G	A	132425950	3	1	160	1	0	0	0	0	1	0	0	0	12860	1291	45	1	676	1	PUS1	12	132425950	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	175115	132425950	1425945	1470	29743										
EP400	57634	genome.wustl.edu	37	chr12	132504700	132504700	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaccacggcctctgctgctCcacagggcccgcttcgagga	11	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:132504700C>G	ENST00000333577.4	+	23	4601	c.4492C>G	c.(4492-4494)Cca>Gca	p.P1498A	EP400_ENST00000330386.6_Missense_Mutation_p.P1462A|EP400_ENST00000389562.2_Missense_Mutation_p.P1461A|EP400_ENST00000389561.2_Missense_Mutation_p.P1462A|EP400_ENST00000332482.4_Missense_Mutation_p.P1425A			Q96L91	EP400_HUMAN	E1A binding protein p400	1498					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCTGCTGCTCCACAGGGCCC	0.657																																																	0													42	46	45					12																	132504700		2203	4299	6502	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4492C>G	12.37:g.132504700C>G	ENSP00000333602:p.Pro1498Ala		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1498A	ENST00000333577.4	37	c.4492		12	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288368	0.23478	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89939	-2.57;-2.56;-2.57;-2.57;-2.59	5.56	3.4	0.38934	.	0.589961	0.18412	N	0.142035	T	0.82153	0.4975	L	0.36672	1.1	0.09310	N	1	P;P;P	0.42296	0.775;0.775;0.775	B;B;B	0.36464	0.225;0.164;0.225	T	0.72795	-0.4185	10	0.34782	T	0.22	.	13.172	0.59604	0.0:0.848:0.0:0.152	.	1462;1462;1461	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	A	1498;1462;1461;1425;1462;1462;1462	ENSP00000333602:P1498A;ENSP00000374212:P1462A;ENSP00000374213:P1461A;ENSP00000331737:P1425A;ENSP00000330620:P1462A	ENSP00000330620:P1462A	P	+	1	0	EP400	131070653	0.186000	0.23225	0.073000	0.20177	0.674000	0.39518	2.160000	0.42348	1.344000	0.45657	-0.145000	0.13849	CCA	EP400	-	NULL		0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132504700	1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	0.156	G	G	132504700	C	G	132504700	3	3	160	1	0	0	0	0	1	0	0	0	5161	855	30	1	4463	1	EP400	12	132504700	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	78750	132504700	1347195	1471	29744										
PXMP2	5827	genome.wustl.edu	37	chr12	133272473	133272473	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccctgggggcctcaggttCttcttcacagggccgctgag	13	15	4	1	rs140744945	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:133272473C>G	ENST00000317479.3	+	3	305	c.240C>G	c.(238-240)ttC>ttG	p.F80L	RP13-672B3.2_ENST00000537262.1_Intron|PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000545677.1_Intron|PXMP2_ENST00000539093.1_Intron|PXMP2_ENST00000543589.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	80						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCTCAGGTTCTTCTTCACAG	0.577																																																	0													55	55	55					12																	133272473		2203	4300	6503	SO:0001583	missense	5827				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.240C>G	12.37:g.133272473C>G	ENSP00000321271:p.Phe80Leu			Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.F80L	ENST00000317479.3	37	c.240	CCDS9279.1	12	.	.	.	.	.	.	.	.	.	.	C	0.433	-0.902493	0.02453	.	.	ENSG00000176894	ENST00000317479	D	0.89746	-2.56	5.36	2.45	0.29901	.	0.199841	0.47093	N	0.000247	T	0.68988	0.3061	N	0.11313	0.125	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.58956	-0.7544	10	0.02654	T	1	.	2.5706	0.04794	0.1447:0.5354:0.1502:0.1696	.	80	Q9NR77	PXMP2_HUMAN	L	80	ENSP00000321271:F80L	ENSP00000321271:F80L	F	+	3	2	PXMP2	131782546	1.000000	0.71417	0.997000	0.53966	0.508000	0.34012	0.549000	0.23329	0.617000	0.30160	0.655000	0.94253	TTC	PXMP2	-	NULL		0.577	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	C	NM_018663		133272473	1	no_errors	ENST00000317479	ensembl	human	known	70_37	missense	SNP	0.991	G	G	133272473	C	G	133272473	3	3	160	1	0	0	0	0	1	0	0	0	12880	912	32	1	250	1	PXMP2	12	133272473	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	767773	133272473	579422	1472	29745										
GOLGA3	2802	genome.wustl.edu	37	chr12	133384852	133384852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcttcagggaacccttggtaGaatcgggagccgggacattt	14	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr12:133384852G>C	ENST00000450791.2	-	4	986	c.803C>G	c.(802-804)tCt>tGt	p.S268C	GOLGA3_ENST00000545875.1_Missense_Mutation_p.S268C|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S268C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S268C|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S268C			Q08378	GOGA3_HUMAN	golgin A3	268					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACCCTTGGTAGAATCGGGAGC	0.527																																																	0													132	144	140					12																	133384852		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.803C>G	12.37:g.133384852G>C	ENSP00000410378:p.Ser268Cys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S268C	ENST00000450791.2	37	c.803	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801997	0.16397	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.23	4.33	0.51752	.	0.684102	0.15269	N	0.271379	T	0.30008	0.0751	L	0.54323	1.7	0.32329	N	0.561287	B;B;B	0.16166	0.01;0.006;0.016	B;B;B	0.18871	0.007;0.005;0.023	T	0.32052	-0.9921	10	0.51188	T	0.08	.	10.1307	0.42676	0.0808:0.1395:0.7797:0.0	.	268;268;268	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	C	268	ENSP00000204726:S268C;ENSP00000410378:S268C;ENSP00000409303:S268C;ENSP00000442143:S268C;ENSP00000442603:S268C	ENSP00000204726:S268C	S	-	2	0	GOLGA3	131894925	0.043000	0.20138	0.001000	0.08648	0.170000	0.22686	2.290000	0.43531	1.317000	0.45149	0.585000	0.79938	TCT	GOLGA3	-	NULL		0.527	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	G	NM_005895		133384852	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	0.011	C	C	133384852	G	C	133384852	3	2	160	1	0	0	0	0	1	0	0	0	6573	942	33	1	3911	1	GOLGA3	12	133384852	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	112379	133384852	467043	1473	29746										
RNF17	56163	genome.wustl.edu	37	chr13	25442795	25442795	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccatatttgtcttcatctCtgccttccccaggagaactc	5	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:25442795C>G	ENST00000255324.5	+	31	4271	c.4219C>G	c.(4219-4221)Ctg>Gtg	p.L1407V	RNF17_ENST00000381921.1_Missense_Mutation_p.L1365V|RNF17_ENST00000339524.3_Missense_Mutation_p.L417V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1407					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTCTTCATCTCTGCCTTCCCC	0.368																																																	0													179	168	172					13																	25442795		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4219C>G	13.37:g.25442795C>G	ENSP00000255324:p.Leu1407Val		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1407V	ENST00000255324.5	37	c.4219	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838033	0.50951	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.27402	3.05;2.63;2.14;1.67	5.93	5.93	0.95920	.	0.225948	0.30392	N	0.009740	T	0.49575	0.1565	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;0.986;1.0;0.985	D;P;D;P	0.83275	0.991;0.799;0.996;0.8	T	0.30327	-0.9982	10	0.33940	T	0.23	-7.1836	12.4466	0.55654	0.0:0.923:0.0:0.077	.	1403;417;1401;1407	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	V	1407;1365;731;417	ENSP00000255324:L1407V;ENSP00000371346:L1365V;ENSP00000388892:L731V;ENSP00000344776:L417V	ENSP00000255324:L1407V	L	+	1	2	RNF17	24340795	0.963000	0.33076	0.954000	0.39281	0.130000	0.20726	2.213000	0.42844	2.826000	0.97356	0.655000	0.94253	CTG	RNF17	-	NULL		0.368	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25442795	1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.993	G	G	25442795	C	G	25442795	3	3	160	1	0	0	0	0	1	0	0	0	13491	912	32	1	4341	1	RNF17	13	25442795	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		25442795	89727083	1474	29747										
FLT1	2321	genome.wustl.edu	37	chr13	28886206	28886206	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggcctttcttttgggtctCtgtgccagcagtccagcatg	11	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:28886206C>G	ENST00000282397.4	-	26	3667	c.3416G>C	c.(3415-3417)aGa>aCa	p.R1139T	FLT1_ENST00000540678.1_Missense_Mutation_p.R357T|FLT1_ENST00000543394.1_Missense_Mutation_p.R162T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTGGGTCTCTGTGCCAGCA	0.408																																																	0													94	91	92					13																	28886206		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3416G>C	13.37:g.28886206C>G	ENSP00000282397:p.Arg1139Thr		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R1139T	ENST00000282397.4	37	c.3416	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457618	0.43634	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.89196	-2.48;-2.48;-2.48	6.08	0.637	0.17735	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.551790	0.20032	N	0.100684	T	0.77219	0.4098	N	0.16066	0.365	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	T	0.64761	-0.6331	10	0.38643	T	0.18	.	9.163	0.37035	0.0:0.5541:0.0:0.4459	.	1139	P17948	VGFR1_HUMAN	T	1139;162;357	ENSP00000282397:R1139T;ENSP00000437841:R162T;ENSP00000443311:R357T	ENSP00000282397:R1139T	R	-	2	0	FLT1	27784206	0.522000	0.26266	0.999000	0.59377	0.992000	0.81027	0.176000	0.16782	0.149000	0.19098	-0.290000	0.09829	AGA	FLT1	-	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,pfscan_Prot_kinase_cat_dom		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			28886206	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.963	G	G	28886206	C	G	28886206	3	3	160	1	0	0	0	0	1	0	0	0	5959	913	32	1	620	1	FLT1	13	28886206	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3443411	28886206	86283672	1475	29748										
FLT1	2321	genome.wustl.edu	37	chr13	28901605	28901605	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttgaaatccttaccttgttGagaaaaaataagtcacgttt	6	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:28901605G>C	ENST00000282397.4	-	20	3041	c.2790C>G	c.(2788-2790)ctC>ctG	p.L930L	FLT1_ENST00000540678.1_Silent_p.L148L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTTGTTGAGAAAAAATA	0.373																																																	0													77	75	75					13																	28901605		2203	4300	6503	SO:0001819	synonymous_variant	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2790C>G	13.37:g.28901605G>C			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L930	ENST00000282397.4	37	c.2790	CCDS9330.1	13																																																																																			FLT1	-	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		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	G			28901605	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	silent	SNP	0.997	C	C	28901605	G	C	28901605	2	2	160	1	0	0	0	0	0	0	0	1	5959	1277	45	1		1	FLT1	13	28901605	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	15399	28901605	86268273	1476	29749										
MTUS2	23281	genome.wustl.edu	37	chr13	29600683	29600683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctcgcaggagggaatggaGaactatcaggttgaaaaaac	12	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:29600683G>C	ENST00000431530.3	+	1	1936	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	616						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGGAATGGAGAACTATCAGG	0.517																																																	0													39	42	41					13																	29600683		1993	4158	6151	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1878G>C	13.37:g.29600683G>C	ENSP00000392057:p.Glu626Asp		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E626D	ENST00000431530.3	37	c.1878	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	13.32	2.200682	0.38905	.	.	ENSG00000132938	ENST00000431530	T	0.15487	2.42	6.03	2.9	0.33743	.	0.101103	0.43110	D	0.000602	T	0.12135	0.0295	L	0.42245	1.32	0.48341	D	0.999634	B	0.26081	0.141	B	0.22753	0.041	T	0.12192	-1.0557	9	.	.	.	.	5.9257	0.19110	0.2087:0.2886:0.5027:0.0	.	616	Q5JR59	MTUS2_HUMAN	D	626	ENSP00000392057:E626D	.	E	+	3	2	MTUS2	28498683	0.995000	0.38212	0.019000	0.16419	0.218000	0.24690	1.395000	0.34520	0.696000	0.31696	0.655000	0.94253	GAG	MTUS2	-	NULL		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	G	XM_166270		29600683	1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.694	C	C	29600683	G	C	29600683	3	2	160	1	0	0	0	0	1	0	0	0	9989	933	33	1	1880	1	MTUS2	13	29600683	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	699078	29600683	85569195	1477	29750										
USPL1	10208	genome.wustl.edu	37	chr13	31232866	31232866	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagacttggtggaaggtcaGattcataaacttcgtctaaa	10	6	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:31232866G>C	ENST00000255304.4	+	9	2994	c.2652G>C	c.(2650-2652)caG>caC	p.Q884H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	884					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TGGAAGGTCAGATTCATAAAC	0.418																																					Ovarian(60;318 1180 1554 28110 31601)												0													64	62	63					13																	31232866		2203	4300	6503	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2652G>C	13.37:g.31232866G>C	ENSP00000255304:p.Gln884His		Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.Q884H	ENST00000255304.4	37	c.2652	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037381	0.54896	.	.	ENSG00000132952	ENST00000255304	T	0.20598	2.06	5.76	2.59	0.31030	.	0.303283	0.34067	N	0.004290	T	0.20373	0.0490	M	0.62723	1.935	0.30586	N	0.762031	B	0.24368	0.102	B	0.25759	0.063	T	0.14117	-1.0484	10	0.72032	D	0.01	-3.349	6.3853	0.21558	0.2382:0.1598:0.602:0.0	.	884	Q5W0Q7	USPL1_HUMAN	H	884	ENSP00000255304:Q884H	ENSP00000255304:Q884H	Q	+	3	2	USPL1	30130866	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	1.635000	0.37134	0.754000	0.32968	0.655000	0.94253	CAG	USPL1	-	NULL		0.418	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31232866	1	no_errors	ENST00000255304	ensembl	human	known	70_37	missense	SNP	0.996	C	C	31232866	G	C	31232866	3	2	160	1	0	0	0	0	1	0	0	0	17123	933	33	1	2682	1	USPL1	13	31232866	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1632183	31232866	83937012	1478	29751										
FREM2	341640	genome.wustl.edu	37	chr13	39262212	39262212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaggtccctggaggagccaGagagggaggcgccccggaga	19	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:39262212G>A	ENST00000280481.7	+	1	947	c.731G>A	c.(730-732)aGa>aAa	p.R244K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	244					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGAGGAGCCAGAGAGGGAGGC	0.652																																																	0													39	45	43					13																	39262212		2196	4297	6493	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.731G>A	13.37:g.39262212G>A	ENSP00000280481:p.Arg244Lys		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R244K	ENST00000280481.7	37	c.731	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	0	-2.630188	0.00115	.	.	ENSG00000150893	ENST00000280481	T	0.18016	2.24	5.46	3.7	0.42460	.	0.585417	0.19176	N	0.120809	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.34229	-0.9837	10	0.06099	T	0.92	.	12.3919	0.55362	0.0:0.3253:0.6747:0.0	.	244	Q5SZK8	FREM2_HUMAN	K	244	ENSP00000280481:R244K	ENSP00000280481:R244K	R	+	2	0	FREM2	38160212	0.351000	0.24887	0.008000	0.14137	0.004000	0.04260	0.082000	0.14847	0.645000	0.30675	-0.150000	0.13652	AGA	FREM2	-	NULL		0.652	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39262212	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.001	A	A	39262212	G	A	39262212	3	1	160	1	0	0	0	0	1	0	0	0	6063	942	33	1	733	1	FREM2	13	39262212	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8029346	39262212	75907666	1479	29752										
AKAP11	11215	genome.wustl.edu	37	chr13	42877194	42877194	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggttacttttgtaaaaatCaaacttgtgaaaggaccctg	8	6	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:42877194C>G	ENST00000025301.2	+	8	4487	c.4312C>G	c.(4312-4314)Caa>Gaa	p.Q1438E		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1438					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTGTAAAAATCAAACTTGTGA	0.358																																																	0													50	56	54					13																	42877194		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4312C>G	13.37:g.42877194C>G	ENSP00000025301:p.Gln1438Glu		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.Q1438E	ENST00000025301.2	37	c.4312	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	2.502	-0.314989	0.05422	.	.	ENSG00000023516	ENST00000025301	T	0.51325	0.71	5.98	4.25	0.50352	.	0.507715	0.18284	N	0.145940	T	0.35653	0.0939	L	0.58669	1.825	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.38993	-0.9635	10	0.02654	T	1	.	6.84	0.23957	0.133:0.6722:0.128:0.0668	.	1438	Q9UKA4	AKA11_HUMAN	E	1438	ENSP00000025301:Q1438E	ENSP00000025301:Q1438E	Q	+	1	0	AKAP11	41775194	0.068000	0.21057	0.008000	0.14137	0.208000	0.24298	1.847000	0.39299	0.857000	0.35407	0.650000	0.86243	CAA	AKAP11	-	NULL		0.358	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	C	NM_016248		42877194	1	no_errors	ENST00000025301	ensembl	human	known	70_37	missense	SNP	0.001	G	G	42877194	C	G	42877194	3	3	160	1	0	0	0	0	1	0	0	0	447	827	29	1	4334	1	AKAP11	13	42877194	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3614982	42877194	72292684	1480	29753										
SLC25A30	253512	genome.wustl.edu	37	chr13	45971465	45971465	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagcaaaaaacccttcattCttccatgtctgttaaaagaa	5	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:45971465C>T	ENST00000539591.1	-	8	772	c.609G>A	c.(607-609)aaG>aaA	p.K203K				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	254					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ACCCTTCATTCTTCCATGTCT	0.383																																																	0													60	61	60					13																	45971465		2203	4300	6503	SO:0001819	synonymous_variant	253512			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"Solute carriers"	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.609G>A	13.37:g.45971465C>T			B2RN96|B4DZK3|F5H8H8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.K254	ENST00000539591.1	37	c.762		13																																																																																			SLC25A30	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.383	SLC25A30-201	KNOWN	basic	protein_coding	SLC25A30	HGNC	protein_coding		C	XM_170736		45971465	-1	no_errors	ENST00000519676	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45971465	C	T	45971465	2	4	160	1	0	0	0	0	0	0	0	1	14524	912	32	1		1	SLC25A30	13	45971465	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3094271	45971465	69198413	1481	29754										
LRCH1	23143	genome.wustl.edu	37	chr13	47255939	47255939	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcagttgaaatctctacgaGaactgaatgtcagaagaaat	9	6	3	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:47255939G>A	ENST00000389798.3	+	4	840	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	LRCH1_ENST00000389797.3_Missense_Mutation_p.E215K|LRCH1_ENST00000311191.6_Missense_Mutation_p.E215K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	215										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATCTCTACGAGAACTGAATGT	0.368																																																	0													71	69	69					13																	47255939		2203	4300	6503	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.643G>A	13.37:g.47255939G>A	ENSP00000374448:p.Glu215Lys		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E215K	ENST00000389798.3	37	c.643	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	.	32	5.127853	0.94473	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	.	0.101878	0.64402	D	0.000004	T	0.56848	0.2013	N	0.21142	0.635	0.58432	D	0.999997	P;D;P;B	0.62365	0.875;0.991;0.849;0.272	P;P;B;B	0.59487	0.549;0.858;0.414;0.186	T	0.53732	-0.8397	10	0.33141	T	0.24	-8.2012	18.6047	0.91262	0.0:0.0:1.0:0.0	.	215;215;215;215	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	215	ENSP00000308493:E215K;ENSP00000374448:E215K;ENSP00000374447:E215K	ENSP00000308493:E215K	E	+	1	0	LRCH1	46153940	1.000000	0.71417	0.979000	0.43373	0.960000	0.62799	9.167000	0.94773	2.641000	0.89580	0.531000	0.56144	GAA	LRCH1	-	smart_Leu-rich_rpt_typical-subtyp		0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	G	NM_015116		47255939	1	no_errors	ENST00000389798	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47255939	G	A	47255939	3	1	160	1	0	0	0	0	1	0	0	0	8955	943	33	1	657	1	LRCH1	13	47255939	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1284474	47255939	67913939	1482	29755										
CYSLTR2	57105	genome.wustl.edu	37	chr13	49281162	49281162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctgcagccttataagaagtCcacatctgtgaacgttttca	7	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:49281162C>T	ENST00000282018.3	+	1	212	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	70					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TATAAGAAGTCCACATCTGTG	0.398																																																	0													94	93	93					13																	49281162		2203	4300	6503	SO:0001583	missense	57105			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.209C>T	13.37:g.49281162C>T	ENSP00000282018:p.Ser70Phe		Q9HCQ2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_P2_purnocptor,prints_Protea_act_rcpt	p.S70F	ENST00000282018.3	37	c.209	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183702	0.06340	.	.	ENSG00000152207	ENST00000282018	T	0.37584	1.19	6.08	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.905676	0.09333	N	0.816649	T	0.37100	0.0991	M	0.77313	2.365	0.09310	N	1	B	0.19331	0.035	B	0.20384	0.029	T	0.33727	-0.9857	10	0.35671	T	0.21	.	4.2947	0.10895	0.1996:0.4828:0.242:0.0756	.	70	Q9NS75	CLTR2_HUMAN	F	70	ENSP00000282018:S70F	ENSP00000282018:S70F	S	+	2	0	CYSLTR2	48179163	0.066000	0.20996	0.969000	0.41365	0.037000	0.13140	0.203000	0.17315	1.575000	0.49775	0.655000	0.94253	TCC	CYSLTR2	-	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt		0.398	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	C			49281162	1	no_errors	ENST00000282018	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49281162	C	T	49281162	3	4	160	1	0	0	0	0	1	0	0	0	4207	855	30	1	211	1	CYSLTR2	13	49281162	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2025223	49281162	65888716	1483	29756										
FAM124A	220108	genome.wustl.edu	37	chr13	51826091	51826091	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taccagctgattctccggagGagccccagccagaagaaagc	11	13	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:51826091G>C	ENST00000322475.8	+	3	723	c.588G>C	c.(586-588)agG>agC	p.R196S	FAM124A_ENST00000280057.6_Missense_Mutation_p.R232S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	196										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TTCTCCGGAGGAGCCCCAGCC	0.542																																																	0													50	51	50					13																	51826091		2203	4300	6503	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.588G>C	13.37:g.51826091G>C	ENSP00000324625:p.Arg196Ser		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.R232S	ENST00000322475.8	37	c.696	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184466	0.38609	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.47528	0.84;0.84	5.79	-1.83	0.07833	.	0.111381	0.64402	D	0.000019	T	0.54935	0.1889	M	0.69823	2.125	0.24291	N	0.995164	D;D;P	0.76494	0.998;0.999;0.952	D;D;B	0.67382	0.923;0.951;0.385	T	0.49560	-0.8927	10	0.87932	D	0	-26.6447	2.7144	0.05183	0.2857:0.4137:0.1912:0.1094	.	196;232;196	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	S	196;232	ENSP00000324625:R196S;ENSP00000280057:R232S	ENSP00000280057:R232S	R	+	3	2	FAM124A	50724092	0.321000	0.24625	0.735000	0.30896	0.240000	0.25518	-0.146000	0.10250	-0.518000	0.06452	-0.176000	0.13171	AGG	FAM124A	-	NULL		0.542	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	G	NM_145019		51826091	1	no_errors	ENST00000280057	ensembl	human	known	70_37	missense	SNP	0.134	C	C	51826091	G	C	51826091	3	2	160	1	0	0	0	0	1	0	0	0	5440	1165	41	1	710	1	FAM124A	13	51826091	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2544929	51826091	63343787	1484	29757										
ATP7B	540	genome.wustl.edu	37	chr13	52548826	52548826	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggcctcttggttgctgagtGagactttgactctcactact	10	11	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:52548826G>C	ENST00000242839.4	-	2	686	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ATP7B_ENST00000400366.3_Nonsense_Mutation_p.S177*|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.S177*|ATP7B_ENST00000542656.1_Nonsense_Mutation_p.S145*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.S177*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.S177*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.S177*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	177	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTTGCTGAGTGAGACTTTGAC	0.527									Wilson disease																																								0													52	55	54					13																	52548826		2095	4217	6312	SO:0001587	stop_gained	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.530C>G	13.37:g.52548826G>C	ENSP00000242839:p.Ser177*		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.S177*	ENST00000242839.4	37	c.530	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.020989	0.97211	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.6404	20.0246	0.97519	0.0:0.0:1.0:0.0	.	.	.	.	X	177;177;177;177;177;177;145	.	ENSP00000242839:S177X	S	-	2	0	ATP7B	51446827	1.000000	0.71417	0.953000	0.39169	0.573000	0.36030	7.030000	0.76484	2.750000	0.94351	0.561000	0.74099	TCA	ATP7B	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.527	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	G	NM_000053		52548826	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	52548826	G	C	52548826	4	2	160	1	0	0	0	0	0	1	0	0	1192	1294	45	1	3947	1	ATP7B	13	52548826	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	722735	52548826	62621052	1485	29758										
PCDH17	27253	genome.wustl.edu	37	chr13	58208549	58208549	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcggcgagagcgggcgtctCacctacgagatcgtggacgg	16	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:58208549C>G	ENST00000377918.3	+	1	1895	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGGGCGTCTCACCTACGAGA	0.662																																					Melanoma(72;952 1291 1619 12849 33676)												0													61	59	60					13																	58208549		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1869C>G	13.37:g.58208549C>G			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L623	ENST00000377918.3	37	c.1869	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208549	1	no_errors	ENST00000377918	ensembl	human	known	70_37	silent	SNP	1.000	G	G	58208549	C	G	58208549	2	3	160	1	0	0	0	0	0	0	0	1	11536	813	29	1		1	PCDH17	13	58208549	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5659723	58208549	56961329	1486	29759										
PCDH20	64881	genome.wustl.edu	37	chr13	61986539	61986539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaacttggcctctctcctCgctgtcggcatctgtagcat	9	13	2	1	rs559148086		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:61986539C>T	ENST00000409186.1	-	5	3798	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E565K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	565	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCTCTCTCCTCGCTGTCGGCA	0.433													C|||	1	0.000199681	0	0	5008	,	,		20564	0		0	False		,,,				2504	0.001																0													118	121	120					13																	61986539		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1693G>A	13.37:g.61986539C>T	ENSP00000386653:p.Glu565Lys		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E565K	ENST00000409186.1	37	c.1693	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713517	0.48517	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.68025	-0.3;-0.3	6.0	6.0	0.97389	.	0.095490	0.45867	D	0.000323	T	0.62405	0.2425	L	0.50333	1.59	0.39805	D	0.972627	B	0.25206	0.12	B	0.24701	0.055	T	0.62562	-0.6828	10	0.66056	D	0.02	.	13.6648	0.62389	0.0:0.9297:0.0:0.0703	.	565	A8K1K9	.	K	565;565;311	ENSP00000387250:E565K;ENSP00000386653:E565K	ENSP00000351500:E311K	E	-	1	0	PCDH20	60884540	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.022000	0.70839	2.846000	0.97976	0.650000	0.86243	GAG	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	C	NM_022843		61986539	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61986539	C	T	61986539	3	4	160	1	0	0	0	0	1	0	0	0	11539	893	31	1	1166	1	PCDH20	13	61986539	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3777990	61986539	53183339	1487	29760										
MYCBP2	23077	genome.wustl.edu	37	chr13	77640190	77640190	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggtaggggttgagcccttCatccaccaatgactttcacc	10	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:77640190C>T	ENST00000544440.2	-	72	12392	c.12375G>A	c.(12373-12375)atG>atA	p.M4125I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4125I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M4163I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGCCCTTCATCCACCAAT	0.388																																																	0													159	152	154					13																	77640190		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12375G>A	13.37:g.77640190C>T	ENSP00000444596:p.Met4125Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.M4163I	ENST00000544440.2	37	c.12489		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.610065|3.610065	0.66558|0.66558	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.29142	.|1.59;1.58;1.59	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21801|0.21801	0.0525|0.0525	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|B	.|0.29627	.|0.252	.|B	.|0.21546	.|0.035	T|T	0.06954|0.06954	-1.0798|-1.0798	5|10	.|0.66056	.|D	.|0.02	.|.	20.0919|20.0919	0.97823|0.97823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4125	.|O75592	.|MYCB2_HUMAN	K|I	546|4125;4163;4125	.|ENSP00000349892:M4125I;ENSP00000384288:M4163I;ENSP00000444596:M4125I	.|ENSP00000349892:M4125I	E|M	-|-	1|3	0|0	MYCBP2|MYCBP2	76538191|76538191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.956000|5.956000	0.70315|0.70315	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	GAA|ATG	MYCBP2	-	NULL		0.388	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77640190	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77640190	C	T	77640190	3	4	160	1	0	0	0	0	1	0	0	0	10041	826	29	1	1595	1	MYCBP2	13	77640190	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	15653651	77640190	37529688	1488	29761										
DCT	1638	genome.wustl.edu	37	chr13	95095789	95095789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggaaccatgttgtacatccGattgtgaccaataggggcca	11	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:95095789G>A	ENST00000377028.5	-	7	1695	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	DCT_ENST00000446125.1_Missense_Mutation_p.R461W	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	428					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTGTACATCCGATTGTGACCA	0.463																																																	0													107	99	102					13																	95095789		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1282C>T	13.37:g.95095789G>A	ENSP00000366227:p.Arg428Trp		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R461W	ENST00000377028.5	37	c.1381	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954040	0.53293	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99382	-5.21;-5.8	5.86	4.11	0.48088	Uncharacterised domain, di-copper centre (2);	0.054407	0.64402	D	0.000001	D	0.99453	0.9806	M	0.88640	2.97	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;P	0.83275	0.996;0.908	D	0.98550	1.0636	10	0.87932	D	0	-16.7575	15.2849	0.73819	0.0:0.0:0.6362:0.3638	.	461;428	Q09GT4;P40126	.;TYRP2_HUMAN	W	35;428;461	ENSP00000366227:R428W;ENSP00000392762:R461W	ENSP00000366220:R35W	R	-	1	2	DCT	93893790	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.680000	0.37607	0.786000	0.33708	-0.188000	0.12872	CGG	DCT	-	superfamily_Unchr_di-copper_centre		0.463	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	G			95095789	-1	no_errors	ENST00000446125	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95095789	G	A	95095789	3	1	160	1	0	0	0	0	1	0	0	0	4309	1057	37	1	285	1	DCT	13	95095789	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	17455599	95095789	20074089	1489	29762										
DZIP1	22873	genome.wustl.edu	37	chr13	96239958	96239958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggtcgtcgtcctcctgctCctcctctgaactaaaaggag	10	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:96239958C>T	ENST00000376829.2	-	20	2904	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	DZIP1_ENST00000361156.3_Missense_Mutation_p.E666K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E666K|DZIP1_ENST00000347108.3_Missense_Mutation_p.E685K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	685					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCTCCTGCTCCTCCTCTGAA	0.517																																																	0													78	67	71					13																	96239958		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2053G>A	13.37:g.96239958C>T	ENSP00000366025:p.Glu685Lys		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E685K	ENST00000376829.2	37	c.2053	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071250	0.76301	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.15952	2.38;2.46;2.46;2.38	5.35	5.35	0.76521	.	0.381500	0.29572	N	0.011761	T	0.33673	0.0871	M	0.70275	2.135	0.41927	D	0.990548	D;D	0.56746	0.977;0.962	P;P	0.52309	0.695;0.498	T	0.08066	-1.0740	10	0.54805	T	0.06	-11.2337	17.2684	0.87093	0.0:1.0:0.0:0.0	.	666;685	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	K	685;666;666;685	ENSP00000257312:E685K;ENSP00000355018:E666K;ENSP00000355175:E666K;ENSP00000366025:E685K	ENSP00000257312:E685K	E	-	1	0	DZIP1	95037959	0.999000	0.42202	0.776000	0.31678	0.346000	0.29079	4.415000	0.59809	2.493000	0.84123	0.655000	0.94253	GAG	DZIP1	-	NULL		0.517	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	C	NM_014934		96239958	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	missense	SNP	0.861	T	T	96239958	C	T	96239958	3	4	160	1	0	0	0	0	1	0	0	0	4873	864	30	1	566	1	DZIP1	13	96239958	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1144169	96239958	18929920	1490	29763										
FARP1	10160	genome.wustl.edu	37	chr13	99037958	99037958	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatcagatttccagctcctaGagattgcccgtcggctagag	10	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:99037958G>C	ENST00000319562.6	+	8	914	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	FARP1_ENST00000376586.2_Missense_Mutation_p.E217Q|FARP1_ENST00000595437.1_Missense_Mutation_p.E217Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	217	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCAGCTCCTAGAGATTGCCCG	0.468																																																	0													94	93	93					13																	99037958		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.649G>C	13.37:g.99037958G>C	ENSP00000322926:p.Glu217Gln		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E217Q	ENST00000319562.6	37	c.649	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904041	0.92035	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.74842	-0.88;-0.88	5.85	5.0	0.66597	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.149661	0.64402	D	0.000014	D	0.84629	0.5514	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.86411	0.1748	10	0.87932	D	0	.	14.8318	0.70153	0.0689:0.0:0.9311:0.0	.	217;217	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Q	217	ENSP00000365771:E217Q;ENSP00000322926:E217Q	ENSP00000322926:E217Q	E	+	1	0	FARP1	97835959	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.869000	0.99810	1.472000	0.48140	0.655000	0.94253	GAG	FARP1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.468	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		99037958	1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99037958	G	C	99037958	3	2	160	1	0	0	0	0	1	0	0	0	5694	943	33	1	898	1	FARP1	13	99037958	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2798000	99037958	16131920	1491	29764										
LIG4	3981	genome.wustl.edu	37	chr13	108862428	108862428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactatttctattctacctgGaattggtgtaaaaatactac	5	8	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:108862428G>A	ENST00000356922.4	-	2	1461	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	LIG4_ENST00000405925.1_Missense_Mutation_p.P397S|LIG4_ENST00000442234.1_Missense_Mutation_p.P397S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	397					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATTCTACCTGGAATTGGTGTA	0.313								Non-homologous end-joining																																									0													93	98	97					13																	108862428		2203	4298	6501	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1189C>T	13.37:g.108862428G>A	ENSP00000349393:p.Pro397Ser		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.P397S	ENST00000356922.4	37	c.1189	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.334041	0.01287	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.80824	-1.42;-1.42;-1.42	5.49	2.47	0.30058	DNA ligase, ATP-dependent, central (2);	0.358500	0.31257	N	0.007973	T	0.67664	0.2917	L	0.33624	1.015	0.21627	N	0.999615	B	0.06786	0.001	B	0.15870	0.014	T	0.54801	-0.8239	10	0.30078	T	0.28	.	8.86	0.35251	0.0:0.2335:0.5743:0.1922	.	397	P49917	DNLI4_HUMAN	S	397	ENSP00000385955:P397S;ENSP00000402030:P397S;ENSP00000349393:P397S	ENSP00000349393:P397S	P	-	1	0	LIG4	107660429	0.976000	0.34144	0.896000	0.35187	0.680000	0.39746	0.816000	0.27267	1.244000	0.43870	0.643000	0.83706	CCA	LIG4	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep		0.313	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108862428	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.711	A	A	108862428	G	A	108862428	3	1	160	1	0	0	0	0	1	0	0	0	8803	1174	41	1	1550	1	LIG4	13	108862428	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9824470	108862428	6307450	1492	29765										
COL4A2	1284	genome.wustl.edu	37	chr13	111109743	111109743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagcaggcttccctgggcttCccggctcccctggagcccgc	13	18	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:111109743C>T	ENST00000360467.5	+	21	1699	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	465	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTGGGCTTCCCGGCTCCCC	0.602																																																	0													59	64	62					13																	111109743		1903	4110	6013	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1393C>T	13.37:g.111109743C>T	ENSP00000353654:p.Pro465Ser		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P465S	ENST00000360467.5	37	c.1393	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	2.118	-0.402009	0.04865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96587	-4.06	4.52	-0.871	0.10642	.	0.686206	0.12260	N	0.484782	D	0.90769	0.7102	L	0.46947	1.48	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77443	-0.2586	10	0.07813	T	0.8	.	4.5571	0.12141	0.0:0.4204:0.1904:0.3892	.	465	P08572	CO4A2_HUMAN	S	465	ENSP00000353654:P465S	ENSP00000257309:P465S	P	+	1	0	COL4A2	109907744	0.000000	0.05858	0.034000	0.17996	0.130000	0.20726	0.221000	0.17680	-0.057000	0.13199	-0.487000	0.04747	CCC	COL4A2	-	pfam_Collagen		0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		111109743	1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	0.016	T	T	111109743	C	T	111109743	3	4	160	1	0	0	0	0	1	0	0	0	3695	855	30	1	1471	1	COL4A2	13	111109743	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2247315	111109743	4060135	1493	29766										
MCF2L	23263	genome.wustl.edu	37	chr13	113730449	113730449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatttacaaggaatacgaatCcatcctcaaccaagatctca	5	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr13:113730449C>A	ENST00000375608.3	+	13	1626	c.1568C>A	c.(1567-1569)tCc>tAc	p.S523Y	MCF2L_ENST00000375597.4_Missense_Mutation_p.S491Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.S550Y|MCF2L_ENST00000397030.1_Missense_Mutation_p.S526Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.S523Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.S491Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.S497Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.S499Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.S497Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.S493Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	523					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAATACGAATCCATCCTCAAC	0.522																																																	0													103	87	92					13																	113730449		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1568C>A	13.37:g.113730449C>A	ENSP00000364758:p.Ser523Tyr		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S550Y	ENST00000375608.3	37	c.1649		13	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.806681	0.00606	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.37752	1.25;1.25;1.18;1.23;1.21;1.23;1.19;1.24;1.21;1.24	5.3	2.5	0.30297	.	1.542630	0.03554	N	0.225963	T	0.36193	0.0958	M	0.72894	2.215	0.09310	N	1	P;B;P;B;B;B	0.37207	0.587;0.358;0.587;0.295;0.338;0.452	B;B;B;B;B;B	0.38500	0.188;0.188;0.275;0.091;0.188;0.142	T	0.29610	-1.0006	10	0.02654	T	1	.	5.7391	0.18083	0.135:0.5464:0.2458:0.0728	.	491;493;550;455;491;523	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	Y	523;523;550;526;493;497;497;499;491;491;334	ENSP00000364758:S523Y;ENSP00000401422:S523Y;ENSP00000364754:S550Y;ENSP00000380225:S526Y;ENSP00000440374:S493Y;ENSP00000397285:S497Y;ENSP00000364751:S497Y;ENSP00000407722:S499Y;ENSP00000405639:S491Y;ENSP00000364747:S491Y	ENSP00000364747:S491Y	S	+	2	0	MCF2L	112778450	0.001000	0.12720	0.197000	0.23402	0.315000	0.28087	1.449000	0.35123	0.188000	0.20168	0.650000	0.86243	TCC	MCF2L	-	NULL		0.522	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	C			113730449	1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	0.006	A	A	113730449	C	A	113730449	3	1	160	1	0	0	0	0	1	0	0	0	9402	855	30	3	1790	3	MCF2L	13	113730449	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2620706	113730449	1439429	1494	29767										
OR4K1	79544	genome.wustl.edu	37	chr14	20404690	20404690	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaccccatcatctactctCtgaggaatgaagatgttaaa	7	9	3	4	rs2792147		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:20404690C>T	ENST00000285600.4	+	1	924	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATCTACTCTCTGAGGAATGA	0.408																																																	0													90	100	96					14																	20404690		2203	4300	6503	SO:0001819	synonymous_variant	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.865C>T	14.37:g.20404690C>T			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L289	ENST00000285600.4	37	c.865	CCDS32025.1	14																																																																																			OR4K1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.408	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20404690	1	no_errors	ENST00000285600	ensembl	human	known	70_37	silent	SNP	0.944	T	T	20404690	C	T	20404690	2	4	160	1	0	0	0	0	0	0	0	1	11091	912	32	1		1	OR4K1	14	20404690	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		20404690	86944850	1495	29768										
RNASE10	338879	genome.wustl.edu	37	chr14	20978826	20978826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagacggcacccaaaccacaGaaacgctggtgcttagcaac	10	13	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:20978826G>A	ENST00000328444.5	+	1	215	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	RNASE10_ENST00000430083.1_Missense_Mutation_p.E94K	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	66					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CCAAACCACAGAAACGCTGGT	0.532																																																	0													85	86	86					14																	20978826		2203	4300	6503	SO:0001583	missense	338879				CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"Ribonucleases, RNase A"	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.196G>A	14.37:g.20978826G>A	ENSP00000333358:p.Glu66Lys		A2RUQ3|B4DKY4	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.E66K	ENST00000328444.5	37	c.196	CCDS32035.1	14	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802598	0.16397	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.22743	1.94;1.97	4.29	3.39	0.38822	.	2.596790	0.01256	N	0.009001	T	0.18509	0.0444	L	0.34521	1.04	0.09310	N	1	B;B	0.33266	0.192;0.404	B;B	0.27715	0.048;0.082	T	0.19418	-1.0306	10	0.42905	T	0.14	-3.5113	8.1251	0.30995	0.1078:0.0:0.8922:0.0	.	66;94	Q5GAN6;B4DKY4	RNS10_HUMAN;.	K	94;66	ENSP00000392996:E94K;ENSP00000333358:E66K	ENSP00000333358:E66K	E	+	1	0	RNASE10	20048666	0.525000	0.26290	0.042000	0.18584	0.007000	0.05969	1.197000	0.32211	1.387000	0.46486	0.655000	0.94253	GAA	RNASE10	-	NULL		0.532	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE10	HGNC	protein_coding	OTTHUMT00000411088.1	G	XM_292225		20978826	1	no_errors	ENST00000328444	ensembl	human	known	70_37	missense	SNP	0.052	A	A	20978826	G	A	20978826	3	1	160	1	0	0	0	0	1	0	0	0	13430	943	33	1	198	1	RNASE10	14	20978826	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	574136	20978826	86370714	1496	29769										
ZNF219	51222	genome.wustl.edu	37	chr14	21561008	21561008	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggggccgcgccagaccctCagtggcaggggtggcctgca	17	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21561008C>G	ENST00000360947.3	-	3	859	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	ZNF219_ENST00000421093.2_Missense_Mutation_p.E150Q|ZNF219_ENST00000451119.2_Missense_Mutation_p.E150Q|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	150					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCCAGACCCTCAGTGGCAGGG	0.677											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	19	17					14																	21561008		2185	4295	6480	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.448G>C	14.37:g.21561008C>G	ENSP00000354206:p.Glu150Gln	749	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept	p.E150Q	ENST00000360947.3	37	c.448	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654137	0.29425	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270	T;T;T;T	0.46063	0.88;0.88;0.88;3.5	4.9	4.9	0.64082	.	0.343119	0.27645	N	0.018453	T	0.30792	0.0776	N	0.08118	0	0.31958	N	0.608784	D	0.59357	0.985	P	0.47206	0.541	T	0.35649	-0.9780	10	0.46703	T	0.11	-20.6268	15.6263	0.76859	0.0:1.0:0.0:0.0	.	150	Q9P2Y4	ZN219_HUMAN	Q	150	ENSP00000354206:E150Q;ENSP00000388558:E150Q;ENSP00000392401:E150Q;ENSP00000450803:E150Q	ENSP00000354206:E150Q	E	-	1	0	ZNF219	20630848	0.273000	0.24181	0.776000	0.31678	0.334000	0.28698	1.910000	0.39927	2.550000	0.86006	0.591000	0.81541	GAG	ZNF219	-	NULL		0.677	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2	C			21561008	-1	no_errors	ENST00000360947	ensembl	human	known	70_37	missense	SNP	0.785	G	G	21561008	C	G	21561008	3	3	160	1	0	0	0	0	1	0	0	0	17803	835	29	1	1732	1	ZNF219	14	21561008	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	582182	21561008	85788532	1497	29770										
HNRNPC	3183	genome.wustl.edu	37	chr14	21679390	21679390	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccactatgtgcttaagagtCatcctcgccattggcgctgt	9	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21679390C>T	ENST00000320084.7	-	8	1152	c.913G>A	c.(913-915)Gac>Aac	p.D305N	HNRNPC_ENST00000553300.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D305N|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D304N|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D225N|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D305N|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D305N|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D249N|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000430246.2_Missense_Mutation_p.D292N|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D292N|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D291N	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	305				EDDS -> G (in Ref. 1 and 2). {ECO:0000305}.	3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GCTTAAGAGTCATCCTCGCCA	0.443																																					NSCLC(108;607 2244 12726 38757)												0													112	117	115					14																	21679390		2030	4157	6187	SO:0001583	missense	3183				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.913G>A	14.37:g.21679390C>T	ENSP00000319690:p.Asp305Asn		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.D305N	ENST00000320084.7	37	c.913	CCDS41915.1	14	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098404	0.76870	.	.	ENSG00000092199	ENST00000320084;ENST00000449098;ENST00000554969;ENST00000554455;ENST00000430246;ENST00000400042;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000557157	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17213	2.86;2.69;2.69;2.86;2.69;2.69;2.86;2.29;2.39;2.86;2.69;2.69;2.86;2.54	5.78	5.78	0.91487	.	1.420010	0.07003	U	0.823700	T	0.43055	0.1230	L	0.47716	1.5	0.31916	N	0.614092	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.993;0.996	D;D;D;D;D	0.87578	0.994;0.998;0.987;0.971;0.987	T	0.43180	-0.9407	10	0.87932	D	0	.	18.7706	0.91890	0.0:1.0:0.0:0.0	.	225;249;291;305;292	P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	N	305;292;292;305;292;101;291;304;225;249;305;292;292;305;213	ENSP00000319690:D305N;ENSP00000404559:D292N;ENSP00000450725:D292N;ENSP00000451291:D305N;ENSP00000442816:D292N;ENSP00000451708:D291N;ENSP00000450790:D304N;ENSP00000451652:D225N;ENSP00000450629:D249N;ENSP00000452276:D305N;ENSP00000450544:D292N;ENSP00000451176:D292N;ENSP00000404848:D305N;ENSP00000450601:D213N	ENSP00000319690:D305N	D	-	1	0	HNRNPC	20749230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.219000	0.51200	2.724000	0.93272	0.655000	0.94253	GAC	HNRNPC	-	pirsf_hnRNP_C_Raly		0.443	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	C			21679390	-1	no_errors	ENST00000320084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21679390	C	T	21679390	3	4	160	1	0	0	0	0	1	0	0	0	7282	826	29	1	11	1	HNRNPC	14	21679390	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	118382	21679390	85670150	1498	29771										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21756215	21756215	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctctggtgctaccagcctCaaaaggtaacttctacgcct	7	14	3	0	rs569126479		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21756215C>G	ENST00000400017.2	+	1	80	c.80C>G	c.(79-81)tCa>tGa	p.S27*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.S27*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.S27*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.S27*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	27					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACCAGCCTCAAAAGGTAAC	0.453																																																	0													134	121	125					14																	21756215		1884	4111	5995	SO:0001587	stop_gained	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.80C>G	14.37:g.21756215C>G	ENSP00000382895:p.Ser27*		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S27*	ENST00000400017.2	37	c.80	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414255	0.62511	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	.	.	.	3.99	-1.68	0.08212	.	3.462690	0.00875	N	0.002066	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.4618	4.8704	0.13629	0.0:0.3795:0.3406:0.2799	.	.	.	.	X	27	.	ENSP00000206660:S27X	S	+	2	0	RPGRIP1	20826055	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.825000	0.04433	-0.476000	0.06842	0.563000	0.77884	TCA	RPGRIP1	-	NULL		0.453	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21756215	1	no_errors	ENST00000206660	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	21756215	C	G	21756215	4	3	160	1	0	0	0	0	0	1	0	0	13579	838	29	1	82	1	RPGRIP1	14	21756215	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	76825	21756215	85593325	1499	29772										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21771605	21771605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcaataccatgcaagtgGaagagccacccaagtctcct	8	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21771605G>A	ENST00000400017.2	+	5	703	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E208K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E208K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E235K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	235					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATGCAAGTGGAAGAGCCACC	0.458																																																	0													74	71	72					14																	21771605		1919	4138	6057	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.703G>A	14.37:g.21771605G>A	ENSP00000382895:p.Glu235Lys		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E235K	ENST00000400017.2	37	c.703	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958035	0.73902	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.92	4.92	0.64577	.	0.207001	0.40064	N	0.001192	T	0.35008	0.0917	L	0.59436	1.845	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.26883	-1.0090	10	0.52906	T	0.07	-12.2765	13.4891	0.61384	0.0:0.0:1.0:0.0	.	235	Q96KN7	RPGR1_HUMAN	K	208;208;235;235	ENSP00000450445:E208K;ENSP00000451219:E208K;ENSP00000382895:E235K;ENSP00000206660:E235K	ENSP00000206660:E235K	E	+	1	0	RPGRIP1	20841445	0.988000	0.35896	0.982000	0.44146	0.961000	0.63080	1.880000	0.39628	2.553000	0.86117	0.655000	0.94253	GAA	RPGRIP1	-	NULL		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21771605	1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	0.998	A	A	21771605	G	A	21771605	3	1	160	1	0	0	0	0	1	0	0	0	13579	1175	41	1	721	1	RPGRIP1	14	21771605	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	15390	21771605	85577935	1500	29773										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21780094	21780094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgagcttgaagagccaactgGaagatgtgtctatcttgcag	12	7	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21780094G>A	ENST00000400017.2	+	8	1042	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E321K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E321K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E348K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	348					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGCCAACTGGAAGATGTGTC	0.448																																																	0													50	49	49					14																	21780094		1907	4129	6036	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1042G>A	14.37:g.21780094G>A	ENSP00000382895:p.Glu348Lys		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E348K	ENST00000400017.2	37	c.1042	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028601	0.75390	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.74106	0.03;-0.79;-0.81;-0.81	5.64	4.71	0.59529	.	0.353337	0.33309	N	0.005054	T	0.72938	0.3523	L	0.57536	1.79	0.80722	D	1	D	0.57257	0.979	P	0.49252	0.604	T	0.67074	-0.5762	10	0.12430	T	0.62	-14.4398	13.3708	0.60711	0.0:0.0:0.8433:0.1567	.	348	Q96KN7	RPGR1_HUMAN	K	321;321;348;348	ENSP00000450445:E321K;ENSP00000451219:E321K;ENSP00000382895:E348K;ENSP00000206660:E348K	ENSP00000206660:E348K	E	+	1	0	RPGRIP1	20849934	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.692000	0.47018	2.937000	0.99478	0.650000	0.86243	GAA	RPGRIP1	-	NULL		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21780094	1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21780094	G	A	21780094	3	1	160	1	0	0	0	0	1	0	0	0	13579	1175	41	1	1072	1	RPGRIP1	14	21780094	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8489	21780094	85569446	1501	29774										
CHD8	57680	genome.wustl.edu	37	chr14	21882483	21882483	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggaagaagtgtctcatctGagccattttggttttgaagc	11	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21882483G>C	ENST00000557364.1	-	9	2382	c.2119C>G	c.(2119-2121)Cag>Gag	p.Q707E	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.Q707E|CHD8_ENST00000430710.3_Missense_Mutation_p.Q428E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	707	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGTCTCATCTGAGCCATTTTG	0.413																																																	0													156	134	140					14																	21882483		1827	4075	5902	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2119C>G	14.37:g.21882483G>C	ENSP00000451601:p.Gln707Glu		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q707E	ENST00000557364.1	37	c.2119	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562049	0.86335	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88975	-2.42;-2.45;-2.45	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	M	0.84433	2.695	0.80722	D	1	P	0.36633	0.562	B	0.40134	0.32	D	0.89180	0.3543	10	0.23302	T	0.38	-13.2825	17.172	0.86832	0.0:0.0:1.0:0.0	.	428	Q9HCK8-2	.	E	428;707;427;707	ENSP00000406288:Q428E;ENSP00000382863:Q707E;ENSP00000451601:Q707E	ENSP00000262707:Q427E	Q	-	1	0	CHD8	20952323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.587000	0.87381	0.655000	0.94253	CAG	CHD8	-	superfamily_Chromodomain-like		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	G	NM_020920		21882483	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21882483	G	C	21882483	3	2	160	1	0	0	0	0	1	0	0	0	3336	1299	45	1	5746	1	CHD8	14	21882483	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	102389	21882483	85467057	1502	29775										
RAB2B	84932	genome.wustl.edu	37	chr14	21929394	21929394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaccctatgtcacgagagttCcgctgggaggcactgggtcc	14	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:21929394C>T	ENST00000397762.1	-	8	712	c.612G>A	c.(610-612)cgG>cgA	p.R204R	RAB2B_ENST00000461909.1_5'Flank	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	204					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CACGAGAGTTCCGCTGGGAGG	0.473																																					Melanoma(131;1007 1750 28652 34486 42672)												0													145	140	142					14																	21929394		2203	4300	6503	SO:0001819	synonymous_variant	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.612G>A	14.37:g.21929394C>T			B2RD03|D3DS24|Q6NZ33	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R204	ENST00000397762.1	37	c.612	CCDS9570.1	14																																																																																			RAB2B	-	smart_Ran_GTPase		0.473	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	C			21929394	-1	no_errors	ENST00000397762	ensembl	human	known	70_37	silent	SNP	0.033	T	T	21929394	C	T	21929394	2	4	160	1	0	0	0	0	0	0	0	1	12948	842	30	1		1	RAB2B	14	21929394	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	46911	21929394	85420146	1503	29776										
MYH7	4625	genome.wustl.edu	37	chr14	23884898	23884898	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctcctgctccgccagcttCcgggaccgctctgtctgctc	10	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:23884898C>T	ENST00000355349.3	-	35	5259	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1699					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGCCAGCTTCCGGGACCGCT	0.627																																																	0													67	64	65					14																	23884898		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5097G>A	14.37:g.23884898C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1699	ENST00000355349.3	37	c.5097	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_tail		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23884898	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	0.999	T	T	23884898	C	T	23884898	2	4	160	1	0	0	0	0	0	0	0	1	10062	842	30	1		1	MYH7	14	23884898	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1955504	23884898	83464642	1504	29777										
LRRC16B	90668	genome.wustl.edu	37	chr14	24526137	24526137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctcagggctccaggcactCggccagaccttcggggcaaa	13	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24526137C>T	ENST00000342740.5	+	13	1120	c.966C>T	c.(964-966)ctC>ctT	p.L322L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	322						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCCAGGCACTCGGCCAGACCT	0.627																																																	0													38	43	41					14																	24526137		2203	4300	6503	SO:0001819	synonymous_variant	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.966C>T	14.37:g.24526137C>T			Q8TEF7|Q96HS9	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L322	ENST00000342740.5	37	c.966	CCDS32054.1	14																																																																																			LRRC16B	-	NULL		0.627	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	C	NM_138360		24526137	1	no_errors	ENST00000342740	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24526137	C	T	24526137	2	4	160	1	0	0	0	0	0	0	0	1	8995	871	31	1		1	LRRC16B	14	24526137	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	641239	24526137	82823403	1505	29778										
IRF9	10379	genome.wustl.edu	37	chr14	24635117	24635117	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccaggtaacactgaatttCtgggaagagagccatggctc	11	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24635117C>T	ENST00000396864.3	+	8	1340	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.L292L	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	351					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CACTGAATTTCTGGGAAGAGA	0.507																																																	0													37	38	38					14																	24635117		2203	4300	6503	SO:0001819	synonymous_variant	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1053C>T	14.37:g.24635117C>T			D3DS61	Silent	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F351	ENST00000396864.3	37	c.1053	CCDS9615.1	14																																																																																			IRF9	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.507	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	C			24635117	1	no_errors	ENST00000396864	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24635117	C	T	24635117	2	4	160	1	0	0	0	0	0	0	0	1	7857	912	32	1		1	IRF9	14	24635117	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	108980	24635117	82714423	1506	29779										
TM9SF1	10548	genome.wustl.edu	37	chr14	24663944	24663944	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgttttcccgaaagcggatCtcatacaaagactcagccat	7	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24663944C>G	ENST00000261789.4	-	2	640	c.282G>C	c.(280-282)gaG>gaC	p.E94D	TM9SF1_ENST00000556387.1_Missense_Mutation_p.E303D|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E94D|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E94D|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E303D|TM9SF1_ENST00000524835.1_Missense_Mutation_p.E7D	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	94					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GAAAGCGGATCTCATACAAAG	0.522																																																	0													297	297	297					14																	24663944		2203	4300	6503	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.282G>C	14.37:g.24663944C>G	ENSP00000261789:p.Glu94Asp		D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	pfam_EMP70,pfam_Snf7	p.E303D	ENST00000261789.4	37	c.909	CCDS9617.1	14	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568698	0.45798	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000528010;ENST00000530611	T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.17	5.17	0.71159	.	0.377371	0.26734	N	0.022771	T	0.21427	0.0516	N	0.05554	-0.025	0.29936	N	0.821467	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.08722	-1.0708	10	0.23302	T	0.38	-4.7549	9.5581	0.39351	0.0:0.9076:0.0:0.0924	.	94;94	Q86SZ6;O15321	.;TM9S1_HUMAN	D	94;94;303;7;94;94;7;94;94;94;303	ENSP00000261789:E94D;ENSP00000432997:E94D;ENSP00000451949:E303D;ENSP00000434387:E7D;ENSP00000380063:E94D;ENSP00000431447:E94D;ENSP00000437127:E7D;ENSP00000435857:E94D;ENSP00000432435:E94D;ENSP00000433792:E94D;ENSP00000433967:E303D	ENSP00000433967:E303D	E	-	3	2	TM9SF1;RP11-468E2.1	23733784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.159000	0.42339	2.700000	0.92200	0.563000	0.77884	GAG	TM9SF1	-	pfam_EMP70		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	C	NM_006405		24663944	-1	no_errors	ENST00000556387	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24663944	C	G	24663944	3	3	160	1	0	0	0	0	1	0	0	0	16007	912	32	1	1601	1	TM9SF1	14	24663944	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	28827	24663944	82685596	1507	29780										
RIPK3	11035	genome.wustl.edu	37	chr14	24807137	24807137	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagagctgcattagctccttCagtccttctaagccgggagt	10	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24807137C>T	ENST00000216274.5	-	6	992	c.774G>A	c.(772-774)ctG>ctA	p.L258L	ADCY4_ENST00000310677.4_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TTAGCTCCTTCAGTCCTTCTA	0.577																																					Pancreas(58;918 1191 4668 13304 15331)												0													58	59	59					14																	24807137		2203	4300	6503	SO:0001819	synonymous_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.774G>A	14.37:g.24807137C>T			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L258	ENST00000216274.5	37	c.774	CCDS9628.1	14																																																																																			RIPK3	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	HGNC	protein_coding	OTTHUMT00000073203.4	C	NM_006871		24807137	-1	no_errors	ENST00000216274	ensembl	human	known	70_37	silent	SNP	0.393	T	T	24807137	C	T	24807137	2	4	160	1	0	0	0	0	0	0	0	1	13412	813	29	1		1	RIPK3	14	24807137	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	143193	24807137	82542403	1508	29781										
NFATC4	4776	genome.wustl.edu	37	chr14	24842959	24842959	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acattgagcttcggaagggtGagacggacatcgggcgcaaa	15	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24842959G>A	ENST00000250373.4	+	5	1759	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	NFATC4_ENST00000556169.1_Missense_Mutation_p.E528K|NFATC4_ENST00000556759.1_Missense_Mutation_p.E75K|NFATC4_ENST00000554473.1_Missense_Mutation_p.E75K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E603K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E572K|NFATC4_ENST00000413692.2_Missense_Mutation_p.E603K|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.E553K|NFATC4_ENST00000422617.3_Missense_Mutation_p.E528K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E572K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E470K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E540K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E470K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E553K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E540K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E553K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E470K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E572K|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.E528K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E470K|NFATC4_ENST00000555167.1_Missense_Mutation_p.E75K	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	540	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCGGAAGGGTGAGACGGACAT	0.592																																																	0													106	104	104					14																	24842959		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1618G>A	14.37:g.24842959G>A	ENSP00000250373:p.Glu540Lys		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E603K	ENST00000250373.4	37	c.1807	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.630279	0.96671	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.994;0.999;0.994;0.987;1.0;1.0;1.0;0.999;0.987;0.987;1.0;0.994;0.99	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.989;0.989;0.958;0.993;0.958;0.958;0.997;0.997;0.997;0.995;0.943;0.958;0.998;0.969;0.975	D	0.93493	0.6837	10	0.87932	D	0	-7.1742	15.5774	0.76404	0.0:0.0:1.0:0.0	.	528;528;572;572;553;553;553;603;603;528;470;572;517;603;540	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	K	603;603;553;553;553;572;572;572;540;540;540;470;470;470;528;470;528;528;75;75;75	ENSP00000388910:E603K;ENSP00000452039:E603K;ENSP00000451224:E553K;ENSP00000450644:E553K;ENSP00000388668:E553K;ENSP00000439350:E572K;ENSP00000452270:E572K;ENSP00000451502:E572K;ENSP00000451151:E540K;ENSP00000250373:E540K;ENSP00000450590:E540K;ENSP00000452349:E470K;ENSP00000450469:E470K;ENSP00000450733:E470K;ENSP00000451454:E528K;ENSP00000451284:E470K;ENSP00000396788:E528K;ENSP00000450686:E528K;ENSP00000450810:E75K;ENSP00000451183:E75K;ENSP00000451395:E75K	ENSP00000250373:E540K	E	+	1	0	NFATC4	23912799	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.652000	0.98499	2.515000	0.84797	0.655000	0.94253	GAG	NFATC4	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	G	NM_004554		24842959	1	no_errors	ENST00000413692	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24842959	G	A	24842959	3	1	160	1	0	0	0	0	1	0	0	0	10389	1291	45	1	1829	1	NFATC4	14	24842959	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	35822	24842959	82506581	1509	29782										
NYNRIN	57523	genome.wustl.edu	37	chr14	24883998	24883998	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggcacacagaaggcggctGaggaggacgaccttgactct	15	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:24883998G>A	ENST00000382554.3	+	9	3361	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1015					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAAGGCGGCTGAGGAGGACGA	0.617																																																	0													91	123	112					14																	24883998		2202	4294	6496	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3043G>A	14.37:g.24883998G>A	ENSP00000371994:p.Glu1015Lys		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.E1015K	ENST00000382554.3	37	c.3043	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533151	0.45073	.	.	ENSG00000205978	ENST00000382554	T	0.14893	2.47	4.36	3.47	0.39725	.	.	.	.	.	T	0.15955	0.0384	L	0.47716	1.5	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.17289	-1.0374	9	0.72032	D	0.01	.	8.032	0.30470	0.1118:0.0:0.8882:0.0	.	1015	Q9P2P1	NYNRI_HUMAN	K	1015	ENSP00000371994:E1015K	ENSP00000371994:E1015K	E	+	1	0	NYNRIN	23953838	0.428000	0.25522	0.041000	0.18516	0.034000	0.12701	0.554000	0.23407	1.044000	0.40200	0.313000	0.20887	GAG	NYNRIN	-	NULL		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	G			24883998	1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.233	A	A	24883998	G	A	24883998	3	1	160	1	0	0	0	0	1	0	0	0	10820	1291	45	1	3073	1	NYNRIN	14	24883998	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	41039	24883998	82465542	1510	29783										
NOVA1	4857	genome.wustl.edu	37	chr14	26949239	26949239	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtagaatgctgactggttCtgtcttggccacattttggg	12	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:26949239C>G	ENST00000344429.5	-	3	394	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	NOVA1_ENST00000465357.2_Missense_Mutation_p.E131Q|NOVA1_ENST00000574031.1_Missense_Mutation_p.E131Q|NOVA1_ENST00000539517.2_Missense_Mutation_p.E131Q|NOVA1_ENST00000267422.7_Missense_Mutation_p.E9Q|NOVA1_ENST00000547619.1_Missense_Mutation_p.E131Q	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	134					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGACTGGTTCTGTCTTGGCC	0.438																																																	0													215	179	191					14																	26949239		2203	4300	6503	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.391G>C	14.37:g.26949239C>G	ENSP00000342387:p.Glu131Gln		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E131Q	ENST00000344429.5	37	c.391	CCDS9635.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054754	0.75960	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.49720	1.38;1.51;1.24;1.53;1.46;0.77;0.97;0.88;0.85	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000003	T	0.54615	0.1869	N	0.24115	0.695	0.58432	D	0.999999	P;D;P;D	0.69078	0.939;0.997;0.948;0.969	P;P;B;P	0.61003	0.617;0.882;0.431;0.634	T	0.55179	-0.8181	10	0.49607	T	0.09	-16.2294	19.8535	0.96748	0.0:1.0:0.0:0.0	.	131;134;131;131	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	Q	131;131;9;90;9;9;94;131;131	ENSP00000447391:E131Q;ENSP00000438875:E131Q;ENSP00000267422:E9Q;ENSP00000408914:E90Q;ENSP00000299472:E9Q;ENSP00000449113:E9Q;ENSP00000449185:E94Q;ENSP00000342387:E131Q;ENSP00000448157:E131Q	ENSP00000267422:E9Q	E	-	1	0	NOVA1	26019079	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.686000	0.91538	0.585000	0.79938	GAA	NOVA1	-	NULL		0.438	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000276557.1	C	NM_006491		26949239	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	missense	SNP	1.000	G	G	26949239	C	G	26949239	3	3	160	1	0	0	0	0	1	0	0	0	10578	922	32	1	1175	1	NOVA1	14	26949239	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2065241	26949239	80400301	1511	29784										
HECTD1	25831	genome.wustl.edu	37	chr14	31611083	31611083	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctttcatcatcttcattttCactaaaggcagttttaaaaa	3	9	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:31611083C>T	ENST00000399332.1	-	18	3342	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	RNU6-541P_ENST00000384709.1_RNA|HECTD1_ENST00000553700.1_Missense_Mutation_p.E952K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	952					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTTCATTTTCACTAAAGGCA	0.284																																																	0													53	51	51					14																	31611083		1802	4044	5846	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2854G>A	14.37:g.31611083C>T	ENSP00000382269:p.Glu952Lys		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.E952K	ENST00000399332.1	37	c.2854	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724908	0.30593	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.39229	1.09;1.09;1.58	5.29	5.29	0.74685	Armadillo-type fold (1);	0.491622	0.17512	U	0.171580	T	0.29355	0.0731	L	0.28192	0.835	0.80722	D	1	B;B	0.29378	0.011;0.243	B;B	0.24541	0.003;0.054	T	0.09378	-1.0677	10	0.06891	T	0.86	-14.45	17.6915	0.88269	0.0:1.0:0.0:0.0	.	952;952	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	952;954;952;426	ENSP00000450697:E952K;ENSP00000382269:E952K;ENSP00000451860:E426K	ENSP00000261312:E954K	E	-	1	0	HECTD1	30680834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.666000	0.68059	2.451000	0.82905	0.655000	0.94253	GAA	HECTD1	-	superfamily_ARM-type_fold		0.284	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31611083	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31611083	C	T	31611083	3	4	160	1	0	0	0	0	1	0	0	0	7059	835	29	1	5082	1	HECTD1	14	31611083	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4661844	31611083	75738457	1512	29785										
HECTD1	25831	genome.wustl.edu	37	chr14	31641296	31641296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcccagtttaatagagtctGacctacatcatccataaaat	6	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:31641296G>C	ENST00000399332.1	-	7	1677	c.1189C>G	c.(1189-1191)Cag>Gag	p.Q397E	HECTD1_ENST00000553700.1_Missense_Mutation_p.Q397E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	397					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AATAGAGTCTGACCTACATCA	0.274																																																	0													54	52	52					14																	31641296		1793	4061	5854	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1189C>G	14.37:g.31641296G>C	ENSP00000382269:p.Gln397Glu		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.Q397E	ENST00000399332.1	37	c.1189	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734938	0.69189	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	L	0.60455	1.87	0.80722	D	1	P	0.40332	0.713	P	0.48654	0.585	T	0.43278	-0.9401	10	0.87932	D	0	-6.1843	19.0278	0.92939	0.0:0.0:1.0:0.0	.	397	Q9ULT8	HECD1_HUMAN	E	397	ENSP00000450697:Q397E;ENSP00000382269:Q397E;ENSP00000452015:Q397E	ENSP00000261312:Q397E	Q	-	1	0	HECTD1	30711047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.501000	0.84356	0.484000	0.47621	CAG	HECTD1	-	superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.274	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	G			31641296	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31641296	G	C	31641296	3	2	160	1	0	0	0	0	1	0	0	0	7059	1299	45	1	6791	1	HECTD1	14	31641296	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	30213	31641296	75708244	1513	29786										
NUBPL	80224	genome.wustl.edu	37	chr14	32315700	32315700	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttggccttgtccaaaacatGagtgttttccagtgtccaaa	8	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:32315700G>C	ENST00000281081.7	+	9	762	c.717G>C	c.(715-717)atG>atC	p.M239I	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.M143I	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	239					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TCCAAAACATGAGTGTTTTCC	0.338																																																	0													102	94	97					14																	32315700		1836	4093	5929	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.717G>C	14.37:g.32315700G>C	ENSP00000281081:p.Met239Ile		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.M239I	ENST00000281081.7	37	c.717	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437952	0.83885	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.48836	0.8;0.8;0.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	H	0.99712	4.72	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90863	0.4740	10	0.87932	D	0	-25.2455	17.171	0.86830	0.0:0.0:1.0:0.0	.	143;239	B4DWB0;Q8TB37	.;NUBPL_HUMAN	I	105;239;143	ENSP00000447618:M105I;ENSP00000281081:M239I;ENSP00000439286:M143I	ENSP00000281081:M239I	M	+	3	0	NUBPL	31385451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.074000	0.89500	2.656000	0.90262	0.655000	0.94253	ATG	NUBPL	-	pfam_ATPase-like_ParA/MinD		0.338	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32315700	1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32315700	G	C	32315700	3	2	160	1	0	0	0	0	1	0	0	0	10741	1290	45	1	751	1	NUBPL	14	32315700	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	674404	32315700	75033840	1514	29787										
RALGAPA1	253959	genome.wustl.edu	37	chr14	36159158	36159158	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccagtttcttcactttgtGaaaaatgtctgactctagtt	6	8	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:36159158G>A	ENST00000389698.3	-	17	2708	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S773L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S773L|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S820L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	773					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCACTTTGTGAAAAATGTCT	0.363																																																	0													63	64	64					14																	36159158		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2318C>T	14.37:g.36159158G>A	ENSP00000374348:p.Ser773Leu		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S820L	ENST00000389698.3	37	c.2459	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611948	0.66558	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.96300	-3.55;-3.55;-3.97;-3.52;-3.97	5.97	5.97	0.96955	.	0.062442	0.64402	D	0.000003	D	0.96923	0.8995	L	0.41236	1.265	0.58432	D	0.999999	D;D;D;D;P	0.69078	0.997;0.994;0.997;0.996;0.932	D;D;D;D;B	0.81914	0.993;0.983;0.995;0.99;0.445	D	0.94786	0.7958	10	0.18276	T	0.48	-12.2228	20.4387	0.99107	0.0:0.0:1.0:0.0	.	820;773;820;773;773	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	L	773;773;773;820;773;820	ENSP00000374348:S773L;ENSP00000302647:S773L;ENSP00000258840:S820L;ENSP00000371803:S773L;ENSP00000451877:S820L	ENSP00000258840:S820L	S	-	2	0	RALGAPA1	35228909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.816000	0.91979	2.836000	0.97738	0.655000	0.94253	TCA	RALGAPA1	-	NULL		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	G	XM_210022		36159158	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36159158	G	A	36159158	3	1	160	1	0	0	0	0	1	0	0	0	13043	1294	45	1	4041	1	RALGAPA1	14	36159158	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3843458	36159158	71190382	1515	29788										
NKX2-1	7080	genome.wustl.edu	37	chr14	36988461	36988461	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacgccgccagcggagccccGaggccgccgccctccatgcc	12	21	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:36988461G>A	ENST00000518149.1	-	2	707	c.102C>T	c.(100-102)ctC>ctT	p.L34L	NKX2-1_ENST00000354822.5_Silent_p.L64L|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Silent_p.L34L|NKX2-1_ENST00000498187.2_Silent_p.L34L|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	34					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCGGAGCCCCGAGGCCGCCGC	0.672			A		NSCLC																																			Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													8	10	9					14																	36988461		2169	4250	6419	SO:0001819	synonymous_variant	7080				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.102C>T	14.37:g.36988461G>A			D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L64	ENST00000518149.1	37	c.192	CCDS9659.1	14																																																																																			NKX2-1	-	NULL		0.672	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-1	HGNC	protein_coding	OTTHUMT00000376225.2	G	NM_003317		36988461	-1	no_errors	ENST00000354822	ensembl	human	known	70_37	silent	SNP	0.997	A	A	36988461	G	A	36988461	2	1	160	1	0	0	0	0	0	0	0	1	10473	1045	37	1		1	NKX2-1	14	36988461	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	829303	36988461	70361079	1516	29789										
C14orf104	55172	genome.wustl.edu	37	chr14	50100096	50100096	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttctatcactgcattgtttGaagaaatgctaatcacaggt	8	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50100096G>A	ENST00000298292.8	-	1	1852	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S591L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	591					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGCATTGTTTGAAGAAATGCT	0.388																																																	0													97	94	95					14																	50100096		2203	4300	6503	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1772C>T	14.37:g.50100096G>A	ENSP00000298292:p.Ser591Leu		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.S591L	ENST00000298292.8	37	c.1772	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153076	0.38021	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.14893	2.47;2.47	5.09	4.18	0.49190	.	0.583623	0.14877	N	0.293167	T	0.09642	0.0237	N	0.05383	-0.06	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.16289	0.015;0.006	T	0.25745	-1.0123	10	0.37606	T	0.19	.	11.2978	0.49288	0.0866:0.0:0.9134:0.0	.	591;591	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	L	591	ENSP00000298292:S591L;ENSP00000384862:S591L	ENSP00000298292:S591L	S	-	2	0	DNAAF2	49169846	0.352000	0.24895	0.863000	0.33907	0.986000	0.74619	1.771000	0.38542	1.247000	0.43917	0.555000	0.69702	TCA	DNAAF2	-	NULL		0.388	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50100096	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	0.246	A	A	50100096	G	A	50100096	3	1	160	1	0	0	0	0	1	0	0	0	1740	1294	45	1	753	1	C14orf104	14	50100096	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	13111635	50100096	57249444	1517	29790										
SDCCAG1	9147	genome.wustl.edu	37	chr14	50312863	50312863	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaatttaacttaccctatCatagagctcaatgattaaat	3	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50312863C>G	ENST00000298310.5	-	4	801	c.352G>C	c.(352-354)Gat>Cat	p.D118H	NEMF_ENST00000556672.1_Missense_Mutation_p.D118H|NEMF_ENST00000546046.1_Missense_Mutation_p.D118H|AL627171.1_ENST00000358799.1_5'Flank|NEMF_ENST00000545773.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor	118					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTACCCTATCATAGAGCTCA	0.333																																																	0													72	68	69					14																	50312863		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.352G>C	14.37:g.50312863C>G	ENSP00000298310:p.Asp118His		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.D118H	ENST00000298310.5	37	c.352	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582771	0.86748	.	.	ENSG00000165525	ENST00000298310;ENST00000546046;ENST00000556672	T;T;T	0.44083	0.93;0.93;0.93	5.29	5.29	0.74685	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.988;0.998;1.0	T	0.77199	-0.2675	10	0.52906	T	0.07	-24.3487	18.5202	0.90950	0.0:1.0:0.0:0.0	.	118;118;118	O60524-3;O60524-5;O60524	.;.;NEMF_HUMAN	H	118	ENSP00000298310:D118H;ENSP00000441016:D118H;ENSP00000452174:D118H	ENSP00000298310:D118H	D	-	1	0	NEMF	49382613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.109000	0.77062	2.473000	0.83533	0.491000	0.48974	GAT	NEMF	-	pfam_Fibro-bd_N		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50312863	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50312863	C	G	50312863	3	3	160	1	0	0	0	0	1	0	0	0	13987	826	29	1	2998	1	SDCCAG1	14	50312863	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	212767	50312863	57036677	1518	29791										
SOS2	6655	genome.wustl.edu	37	chr14	50626635	50626635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaacagaaaaatatgccgttCatgtttggcaccgattcttg	8	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50626635C>T	ENST00000216373.5	-	10	1640	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	SOS2_ENST00000543680.1_Missense_Mutation_p.E423K|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	456	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATATGCCGTTCATGTTTGGCA	0.393																																																	0													192	180	184					14																	50626635		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1366G>A	14.37:g.50626635C>T	ENSP00000216373:p.Glu456Lys		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E456K	ENST00000216373.5	37	c.1366	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871015	0.91587	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88431	-2.38;-2.38	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044427	0.85682	D	0.000000	D	0.94745	0.8304	M	0.81497	2.545	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.992	D;P;P	0.70227	0.968;0.871;0.871	D	0.94999	0.8141	10	0.87932	D	0	.	19.5267	0.95209	0.0:1.0:0.0:0.0	.	423;486;456	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	K	456;423	ENSP00000216373:E456K;ENSP00000445328:E423K	ENSP00000216373:E456K	E	-	1	0	SOS2	49696385	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.745000	0.85046	2.612000	0.88384	0.650000	0.86243	GAA	SOS2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.393	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50626635	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50626635	C	T	50626635	3	4	160	1	0	0	0	0	1	0	0	0	14967	835	29	1	2688	1	SOS2	14	50626635	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	313772	50626635	56722905	1519	29792										
MAP4K5	11183	genome.wustl.edu	37	chr14	50895433	50895433	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaggccagtttcttacttGattttaattttccttgtaga	7	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50895433G>C	ENST00000013125.4	-	29	2591	c.2273C>G	c.(2272-2274)tCa>tGa	p.S758*		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	758	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTTCTTACTTGATTTTAATTT	0.279																																																	0													58	54	55					14																	50895433		1762	4033	5795	SO:0001587	stop_gained	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2273C>G	14.37:g.50895433G>C	ENSP00000013125:p.Ser758*		Q8IYF6	Nonsense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S758*	ENST00000013125.4	37	c.2273		14	.	.	.	.	.	.	.	.	.	.	G	43	9.939980	0.99300	.	.	ENSG00000012983	ENST00000013125	.	.	.	5.89	5.89	0.94794	.	0.057196	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	X	758	.	ENSP00000013125:S758X	S	-	2	0	MAP4K5	49965183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.783000	0.95769	0.655000	0.94253	TCA	MAP4K5	-	pfam_Citron,smart_Citron		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	G	NM_006575		50895433	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	50895433	G	C	50895433	4	2	160	1	0	0	0	0	0	1	0	0	9286	1294	45	1	283	1	MAP4K5	14	50895433	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	268798	50895433	56454107	1520	29793										
MAP4K5	11183	genome.wustl.edu	37	chr14	50952896	50952896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ataaatatttcttgttgaatCaaagaaaaatcatctcctgg	5	6	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:50952896C>G	ENST00000013125.4	-	4	501	c.183G>C	c.(181-183)ttG>ttC	p.L61F	MAP4K5_ENST00000557578.1_5'Flank	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					CTTGTTGAATCAAAGAAAAAT	0.279																																																	0													57	52	53					14																	50952896		1778	3977	5755	SO:0001583	missense	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.183G>C	14.37:g.50952896C>G	ENSP00000013125:p.Leu61Phe		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L61F	ENST00000013125.4	37	c.183		14	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197620	0.38806	.	.	ENSG00000012983	ENST00000013125;ENST00000557390	T;T	0.65916	-0.18;-0.18	5.26	3.43	0.39272	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073236	0.56097	D	0.000026	T	0.62417	0.2426	L	0.42581	1.335	0.52099	D	0.999945	B;P	0.51147	0.302;0.942	B;P	0.51777	0.361;0.679	T	0.64639	-0.6360	10	0.56958	D	0.05	.	11.5086	0.50481	0.0:0.8498:0.0:0.1502	.	61;61	B2R928;Q9Y4K4	.;M4K5_HUMAN	F	61	ENSP00000013125:L61F;ENSP00000451980:L61F	ENSP00000013125:L61F	L	-	3	2	MAP4K5	50022646	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.378000	0.34328	1.233000	0.43693	-0.218000	0.12543	TTG	MAP4K5	-	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		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	C	NM_006575		50952896	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50952896	C	G	50952896	3	3	160	1	0	0	0	0	1	0	0	0	9286	825	29	1	2473	1	MAP4K5	14	50952896	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	57463	50952896	56396644	1521	29794										
TRIM9	114088	genome.wustl.edu	37	chr14	51477205	51477205	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagtgagagatctgatctCgaaccacctaggattaaaaa	9	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:51477205C>G	ENST00000298355.3	-	4	2170	c.1049G>C	c.(1048-1050)cGa>cCa	p.R350P	TRIM9_ENST00000360392.4_Missense_Mutation_p.R350P|TRIM9_ENST00000338969.5_Missense_Mutation_p.R350P	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	350					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GATCTGATCTCGAACCACCTA	0.433																																																	0													95	93	93					14																	51477205		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1049G>C	14.37:g.51477205C>G	ENSP00000298355:p.Arg350Pro		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R350P	ENST00000298355.3	37	c.1049	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725702	0.89298	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71222	-0.43;-0.55;0.51	5.87	5.87	0.94306	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	L	0.50333	1.59	0.51767	D	0.999939	D;D;D	0.71674	0.993;0.998;0.96	P;D;P	0.69479	0.901;0.964;0.544	T	0.78170	-0.2308	10	0.42905	T	0.14	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	350;350;350	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	P	350	ENSP00000298355:R350P;ENSP00000342970:R350P;ENSP00000353561:R350P	ENSP00000298355:R350P	R	-	2	0	TRIM9	50546955	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.754000	0.85163	2.941000	0.99782	0.655000	0.94253	CGA	TRIM9	-	smart_Bbox_C		0.433	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51477205	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51477205	C	G	51477205	3	3	160	1	0	0	0	0	1	0	0	0	16580	884	31	1	1161	1	TRIM9	14	51477205	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	524309	51477205	55872335	1522	29795										
PTGER2	5732	genome.wustl.edu	37	chr14	52781935	52781935	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtgtcattctcaacctcatCcgcatgcaccgccgaagccg	8	16	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:52781935C>T	ENST00000245457.5	+	1	823	c.669C>T	c.(667-669)atC>atT	p.I223I	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	223					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCAACCTCATCCGCATGCACC	0.672																																																	0													49	42	44					14																	52781935		2203	4300	6503	SO:0001819	synonymous_variant	5732				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.669C>T	14.37:g.52781935C>T			D3DSC0|Q52LG8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.I223	ENST00000245457.5	37	c.669	CCDS9708.1	14																																																																																			PTGER2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.672	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	C			52781935	1	no_errors	ENST00000245457	ensembl	human	known	70_37	silent	SNP	0.694	T	T	52781935	C	T	52781935	2	4	160	1	0	0	0	0	0	0	0	1	12771	845	30	1		1	PTGER2	14	52781935	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1304730	52781935	54567605	1523	29796										
SOCS4	122809	genome.wustl.edu	37	chr14	55510564	55510564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctaaataccacacgcagattGattatgtccactgtcttgta	6	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:55510564G>C	ENST00000395472.2	+	2	1137	c.805G>C	c.(805-807)Gat>Cat	p.D269H	SOCS4_ENST00000555846.1_Missense_Mutation_p.D269H|SOCS4_ENST00000339298.2_Missense_Mutation_p.D269H	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	269					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CACGCAGATTGATTATGTCCA	0.433																																																	0													137	119	125					14																	55510564		2203	4300	6503	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.805G>C	14.37:g.55510564G>C	ENSP00000378855:p.Asp269His			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D269H	ENST00000395472.2	37	c.805	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377297	0.61735	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.41758	0.99;0.99;0.99	5.87	5.87	0.94306	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64253	-0.6451	10	0.54805	T	0.06	-20.524	20.207	0.98280	0.0:0.0:1.0:0.0	.	269	Q8WXH5	SOCS4_HUMAN	H	269	ENSP00000378855:D269H;ENSP00000452522:D269H;ENSP00000341327:D269H	ENSP00000341327:D269H	D	+	1	0	SOCS4	54580317	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.864000	0.99589	2.765000	0.95021	0.650000	0.86243	GAT	SOCS4	-	NULL		0.433	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55510564	1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55510564	G	C	55510564	3	2	160	1	0	0	0	0	1	0	0	0	14946	1290	45	1	807	1	SOCS4	14	55510564	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2728629	55510564	51838976	1524	29797										
KTN1	3895	genome.wustl.edu	37	chr14	56119797	56119797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagtagcacaacataacttGaaagaggtatagtataaaca	8	5	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:56119797G>C	ENST00000395314.3	+	27	2825	c.2757G>C	c.(2755-2757)ttG>ttC	p.L919F	KTN1_ENST00000416613.1_Missense_Mutation_p.L919F|KTN1_ENST00000438792.2_Missense_Mutation_p.L919F|KTN1_ENST00000395308.1_Missense_Mutation_p.L896F|KTN1_ENST00000395309.3_Missense_Mutation_p.L919F|Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000554507.1_Missense_Mutation_p.L214F|KTN1_ENST00000395311.1_Missense_Mutation_p.L896F|KTN1_ENST00000413890.2_Missense_Mutation_p.L896F	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	919					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AACATAACTTGAAAGAGGTAT	0.279			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													298	317	311					14																	56119797		2202	4285	6487	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2757G>C	14.37:g.56119797G>C	ENSP00000378725:p.Leu919Phe		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.L919F	ENST00000395314.3	37	c.2757	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	2.269	-0.367542	0.05069	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507	T;T;T;T;T;T;T;T	0.48201	1.4;1.47;1.37;1.47;1.4;1.4;1.47;0.82	5.42	3.55	0.40652	.	0.205916	0.22080	N	0.064904	T	0.34106	0.0886	L	0.36672	1.1	0.20563	N	0.999882	B;B;B;B;B	0.14012	0.003;0.009;0.001;0.003;0.003	B;B;B;B;B	0.14578	0.004;0.011;0.007;0.004;0.006	T	0.25082	-1.0142	10	0.56958	D	0.05	0.1791	5.8803	0.18852	0.1406:0.0:0.5889:0.2704	.	919;214;919;896;919	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	F	896;919;919;919;896;896;919;214	ENSP00000394992:L896F;ENSP00000378720:L919F;ENSP00000391964:L919F;ENSP00000378725:L919F;ENSP00000378719:L896F;ENSP00000378722:L896F;ENSP00000388807:L919F;ENSP00000452073:L214F	ENSP00000378719:L896F	L	+	3	2	KTN1	55189550	0.000000	0.05858	0.923000	0.36655	0.743000	0.42351	-0.269000	0.08596	1.259000	0.44117	0.585000	0.79938	TTG	KTN1	-	NULL		0.279	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56119797	1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	0.656	C	C	56119797	G	C	56119797	3	2	160	1	0	0	0	0	1	0	0	0	8605	1281	45	1	2859	1	KTN1	14	56119797	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	609233	56119797	51229743	1525	29798										
DACT1	51339	genome.wustl.edu	37	chr14	59113114	59113114	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcaccgcggcccagccctCcaggggctggagaacggctt	14	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:59113114C>G	ENST00000335867.4	+	4	1797	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	DACT1_ENST00000556859.1_Silent_p.L310L|DACT1_ENST00000541264.2_Silent_p.L310L|DACT1_ENST00000395153.3_Silent_p.L554L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	591					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCCAGCCCTCCAGGGGCTGG	0.612																																																	0													14	18	17					14																	59113114		2199	4297	6496	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1773C>G	14.37:g.59113114C>G			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.L591	ENST00000335867.4	37	c.1773	CCDS9736.1	14																																																																																			DACT1	-	NULL		0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	C	NM_016651		59113114	1	no_errors	ENST00000335867	ensembl	human	known	70_37	silent	SNP	0.000	G	G	59113114	C	G	59113114	2	3	160	1	0	0	0	0	0	0	0	1	4227	842	30	1		1	DACT1	14	59113114	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2993317	59113114	48236426	1526	29799										
DAAM1	23002	genome.wustl.edu	37	chr14	59806896	59806896	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aattgcaacatccttctatcGaggtattgttgatgttgaat	8	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:59806896G>C	ENST00000395125.1	+	16	2126	c.2103G>C	c.(2101-2103)tcG>tcC	p.S701S	DAAM1_ENST00000360909.3_Silent_p.S691S|DAAM1_ENST00000351081.1_Silent_p.S701S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	701	Actin-binding.|FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCCTTCTATCGAGGTATTGTT	0.383																																																	0													113	106	109					14																	59806896		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2103G>C	14.37:g.59806896G>C			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.S701	ENST00000395125.1	37	c.2103	CCDS9737.1	14																																																																																			DAAM1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59806896	1	no_errors	ENST00000351081	ensembl	human	known	70_37	silent	SNP	0.062	C	C	59806896	G	C	59806896	2	2	160	1	0	0	0	0	0	0	0	1	4220	1045	37	1		1	DAAM1	14	59806896	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	693782	59806896	47542644	1527	29800										
C14orf135	64430	genome.wustl.edu	37	chr14	60581945	60581945	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagaaactagcttgcttcatCactttgctggcttctcacag	7	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:60581945C>G	ENST00000406854.1	+	4	1677	c.1123C>G	c.(1123-1125)Cac>Gac	p.H375D	PCNXL4_ENST00000317623.4_Missense_Mutation_p.H141D|PCNXL4_ENST00000404681.2_Missense_Mutation_p.H375D|PCNXL4_ENST00000406949.1_Missense_Mutation_p.H141D			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	375						integral component of membrane (GO:0016021)											CTTGCTTCATCACTTTGCTGG	0.368																																																	0													156	145	148					14																	60581945		1829	4083	5912	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1123C>G	14.37:g.60581945C>G	ENSP00000384801:p.His375Asp		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.H375D	ENST00000406854.1	37	c.1123		14	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888725	0.33348	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.24151	1.88;1.89;1.87;1.89	5.51	2.65	0.31530	.	.	.	.	.	T	0.22898	0.0553	M	0.62723	1.935	0.80722	D	1	P;P	0.38922	0.454;0.651	B;B	0.32805	0.153;0.115	T	0.04509	-1.0946	9	0.38643	T	0.18	.	10.7071	0.45960	0.0:0.729:0.0:0.271	.	375;141	Q63HM2;B5MC47	CN135_HUMAN;.	D	141;375;141;375	ENSP00000317396:H141D;ENSP00000384801:H375D;ENSP00000385201:H141D;ENSP00000385713:H375D	ENSP00000317396:H141D	H	+	1	0	C14orf135	59651698	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.124000	0.42006	0.800000	0.34041	0.462000	0.41574	CAC	PCNXL4	-	NULL		0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	C	NM_022495		60581945	1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	1.000	G	G	60581945	C	G	60581945	3	3	160	1	0	0	0	0	1	0	0	0	1749	826	29	1	427	1	C14orf135	14	60581945	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	775049	60581945	46767595	1528	29801										
SIX4	51804	genome.wustl.edu	37	chr14	61190355	61190355	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccgcgccttcagcaggctCtcgttgccacgtagcaggtc	12	16	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:61190355C>G	ENST00000216513.4	-	1	497	c.438G>C	c.(436-438)gaG>gaC	p.E146D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	146					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCAGCAGGCTCTCGTTGCCAC	0.682																																																	0													9	10	10					14																	61190355		2185	4271	6456	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.438G>C	14.37:g.61190355C>G	ENSP00000216513:p.Glu146Asp		Q4QQH5|Q4V764	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E146D	ENST00000216513.4	37	c.438	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636227	0.67130	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.94376	-3.41	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	L	0.55017	1.72	0.80722	D	1	D;P	0.54207	0.965;0.589	P;B	0.60949	0.881;0.417	D	0.93954	0.7234	10	0.39692	T	0.17	.	15.1462	0.72653	0.0:1.0:0.0:0.0	.	138;146	G3V2N2;Q9UIU6	.;SIX4_HUMAN	D	146;138	ENSP00000216513:E146D	ENSP00000216513:E146D	E	-	3	2	SIX4	60260108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.949000	0.49074	1.769000	0.52152	0.650000	0.86243	GAG	SIX4	-	NULL		0.682	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	HGNC	protein_coding	OTTHUMT00000072397.2	C			61190355	-1	no_errors	ENST00000216513	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61190355	C	G	61190355	3	3	160	1	0	0	0	0	1	0	0	0	14379	912	32	1	1919	1	SIX4	14	61190355	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	608410	61190355	46159185	1529	29802										
HIF1A	3091	genome.wustl.edu	37	chr14	62162552	62162552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccggcggcgcgaacgacaaGaaaaagtaagcccattccct	11	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:62162552G>C	ENST00000337138.4	+	1	295	c.30G>C	c.(28-30)aaG>aaC	p.K10N	HIF1A_ENST00000394997.1_Missense_Mutation_p.K10N|HIF1A-AS1_ENST00000557544.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.K10N|HIF1A_ENST00000539097.1_5'Flank|HIF1A_ENST00000557538.1_5'Flank	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	10	Interaction with TSGA10. {ECO:0000250}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CGAACGACAAGAAAAAGTAAG	0.726																																																	0													22	27	25					14																	62162552		2187	4288	6475	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.30G>C	14.37:g.62162552G>C	ENSP00000338018:p.Lys10Asn		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.K10N	ENST00000337138.4	37	c.30	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018998	0.54576	.	.	ENSG00000100644	ENST00000337138;ENST00000394997;ENST00000323441	T;T;T	0.56103	0.59;0.64;0.48	4.61	1.73	0.24493	.	0.855261	0.10622	N	0.653218	T	0.67998	0.2953	M	0.79258	2.445	0.80722	D	1	D;D;D	0.58268	0.981;0.982;0.982	D;P;P	0.67231	0.95;0.624;0.624	T	0.64854	-0.6309	10	0.66056	D	0.02	.	6.5438	0.22394	0.313:0.0:0.687:0.0	.	10;10;10	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	N	10	ENSP00000338018:K10N;ENSP00000378446:K10N;ENSP00000323326:K10N	ENSP00000323326:K10N	K	+	3	2	HIF1A	61232305	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.685000	0.37659	0.575000	0.29434	0.491000	0.48974	AAG	HIF1A	-	NULL		0.726	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	G	NM_001530		62162552	1	no_errors	ENST00000337138	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62162552	G	C	62162552	3	2	160	1	0	0	0	0	1	0	0	0	7123	933	33	1	32	1	HIF1A	14	62162552	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	972197	62162552	45186988	1530	29803										
SYT16	83851	genome.wustl.edu	37	chr14	62536415	62536415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttccgtgtcccggtcccaGagtttccgttcagtgacatc	9	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:62536415G>C	ENST00000430451.2	+	2	815	c.618G>C	c.(616-618)caG>caC	p.Q206H	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.Q206H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	206					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCCGGTCCCAGAGTTTCCGTT	0.493																																																	0													161	152	155					14																	62536415		1920	4122	6042	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.618G>C	14.37:g.62536415G>C	ENSP00000394700:p.Gln206His		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	NULL	p.Q206H	ENST00000430451.2	37	c.618	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058534	0.55325	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.38401	1.14;3.48	4.8	3.91	0.45181	.	0.000000	0.64402	D	0.000001	T	0.28699	0.0711	L	0.52759	1.655	0.47659	D	0.999489	P;P	0.46512	0.879;0.528	B;B	0.41571	0.36;0.105	T	0.04065	-1.0980	10	0.27082	T	0.32	-13.3021	6.2165	0.20658	0.1634:0.0:0.6843:0.1523	.	206;206	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	206	ENSP00000388023:Q206H;ENSP00000394700:Q206H	ENSP00000394700:Q206H	Q	+	3	2	SYT16	61606168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.392000	0.34486	1.383000	0.46405	0.655000	0.94253	CAG	SYT16	-	NULL		0.493	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	G	NM_031914		62536415	1	no_errors	ENST00000446982	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62536415	G	C	62536415	3	2	160	1	0	0	0	0	1	0	0	0	15502	933	33	1	624	1	SYT16	14	62536415	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	373863	62536415	44813125	1531	29804										
HSPA2	3306	genome.wustl.edu	37	chr14	65008969	65008969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttcgacctgaccgggattCcccctgcgcctcgcggggtc	13	16	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:65008969C>T	ENST00000394709.1	+	2	1478	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	HSPA2_ENST00000247207.6_Missense_Mutation_p.P468S|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	468					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GACCGGGATTCCCCCTGCGCC	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)												0													56	58	57					14																	65008969		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1402C>T	14.37:g.65008969C>T	ENSP00000378199:p.Pro468Ser		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P468S	ENST00000394709.1	37	c.1402	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783472	0.49891	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.05649	3.41;3.41	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000044	T	0.35885	0.0947	H	0.94306	3.52	0.58432	D	0.999999	D	0.69078	0.997	D	0.64506	0.926	T	0.54302	-0.8314	10	0.87932	D	0	-15.9813	18.6485	0.91421	0.0:1.0:0.0:0.0	.	468	P54652	HSP72_HUMAN	S	468;468;242	ENSP00000378199:P468S;ENSP00000247207:P468S	ENSP00000247207:P468S	P	+	1	0	HSPA2	64078722	1.000000	0.71417	0.988000	0.46212	0.219000	0.24729	6.089000	0.71384	2.399000	0.81585	0.558000	0.71614	CCC	HSPA2	-	pfam_Hsp_70_fam		0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	C			65008969	1	no_errors	ENST00000247207	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65008969	C	T	65008969	3	4	160	1	0	0	0	0	1	0	0	0	7431	855	30	1	1404	1	HSPA2	14	65008969	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2472554	65008969	42340571	1532	29805										
PIGH	5283	genome.wustl.edu	37	chr14	68066806	68066806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgacagcggtgagcgaacGcagcgagagccgagggcagc	19	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:68066806G>A	ENST00000216452.4	-	1	198	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	PIGH_ENST00000560722.1_Missense_Mutation_p.R39C|PIGH_ENST00000559581.1_Missense_Mutation_p.R39C	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		GTGAGCGAACGCAGCGAGAGC	0.677											OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	15	15					14																	68066806		2180	4281	6461	SO:0001583	missense	5283				CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8964	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase subunit"	600154	"phosphatidylinositol glycan, class H"			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.115C>T	14.37:g.68066806G>A	ENSP00000216452:p.Arg39Cys	1104	B2RAA4	Missense_Mutation	SNP	pfam_GPI-GlcNAc_Trfase_PIG-H_dom	p.R39C	ENST00000216452.4	37	c.115	CCDS9784.1	14	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009171	0.54361	.	.	ENSG00000100564	ENST00000216452	.	.	.	4.74	3.84	0.44239	.	0.185257	0.47852	N	0.000204	T	0.43875	0.1267	L	0.27053	0.805	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.35475	-0.9787	9	0.49607	T	0.09	-13.7155	12.1233	0.53903	0.0839:0.0:0.9161:0.0	.	39;39	B4DEE2;Q14442	.;PIGH_HUMAN	C	39	.	ENSP00000216452:R39C	R	-	1	0	PIGH	67136559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.102000	0.50291	1.188000	0.43014	0.462000	0.41574	CGT	PIGH	-	NULL		0.677	PIGH-001	KNOWN	basic|CCDS	protein_coding	PIGH	HGNC	protein_coding	OTTHUMT00000415189.2	G	NM_004569		68066806	-1	no_errors	ENST00000216452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68066806	G	A	68066806	3	1	160	1	0	0	0	0	1	0	0	0	11913	1087	38	2	467	2	PIGH	14	68066806	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3057837	68066806	39282734	1533	29806										
DCAF5	8816	genome.wustl.edu	37	chr14	69521200	69521200	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggagttctaggagtctcttCtttaaaagtgtccttgctgc	11	8	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:69521200C>G	ENST00000341516.5	-	9	2350	c.2203G>C	c.(2203-2205)Gaa>Caa	p.E735Q	DCAF5_ENST00000554215.1_Missense_Mutation_p.E653Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.E653Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.E734Q|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	735					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGAGTCTCTTCTTTAAAAGTG	0.557																																																	0													85	90	88					14																	69521200		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2203G>C	14.37:g.69521200C>G	ENSP00000341351:p.Glu735Gln		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E735Q	ENST00000341516.5	37	c.2203	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520808	0.27211	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.72051	-0.62;-0.45;-0.45;0.01	4.89	4.89	0.63831	.	0.164886	0.42420	D	0.000709	T	0.71484	0.3345	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.77993	-0.2378	10	0.54805	T	0.06	-15.9222	18.2291	0.89928	0.0:1.0:0.0:0.0	.	734;735	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	735;653;653;734	ENSP00000341351:E735Q;ENSP00000451551:E653Q;ENSP00000452052:E653Q;ENSP00000451845:E734Q	ENSP00000341351:E735Q	E	-	1	0	DCAF5	68590953	1.000000	0.71417	0.993000	0.49108	0.319000	0.28217	3.635000	0.54309	2.533000	0.85409	0.561000	0.74099	GAA	DCAF5	-	NULL		0.557	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	C	NM_003861		69521200	-1	no_errors	ENST00000341516	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69521200	C	G	69521200	3	3	160	1	0	0	0	0	1	0	0	0	4278	922	32	1	629	1	DCAF5	14	69521200	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1454394	69521200	37828340	1534	29807										
KIAA0247	9766	genome.wustl.edu	37	chr14	70171394	70171394	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgccagctccgtggcgctCattctcctcctcgtggtgct	10	16	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:70171394C>T	ENST00000342745.4	+	4	706	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	131						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCGTGGCGCTCATTCTCCTCC	0.522																																																	0													84	68	74					14																	70171394		2203	4300	6503	SO:0001819	synonymous_variant	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.393C>T	14.37:g.70171394C>T				Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L131	ENST00000342745.4	37	c.393	CCDS9796.1	14																																																																																			KIAA0247	-	NULL		0.522	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0247	HGNC	protein_coding	OTTHUMT00000412453.1	C	NM_014734		70171394	1	no_errors	ENST00000342745	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70171394	C	T	70171394	2	4	160	1	0	0	0	0	0	0	0	1	8185	813	29	1		1	KIAA0247	14	70171394	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	650194	70171394	37178146	1535	29808										
ADAM21	8747	genome.wustl.edu	37	chr14	70926378	70926378	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaaactaaggctcattcatCaggttaagaaaatgtctcta	7	7	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:70926378C>G	ENST00000603540.1	+	2	2420	c.2162C>G	c.(2161-2163)tCa>tGa	p.S721*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.S721*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	721					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTCATTCATCAGGTTAAGAA	0.378																																																	0													78	78	78					14																	70926378		2203	4298	6501	SO:0001587	stop_gained	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2162C>G	14.37:g.70926378C>G	ENSP00000474385:p.Ser721*		O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S721*	ENST00000603540.1	37	c.2162	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242677	0.79912	.	.	ENSG00000139985	ENST00000267499	.	.	.	4.72	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.2042	0.06659	0.1972:0.4459:0.0:0.3569	.	.	.	.	X	721	.	ENSP00000267499:S721X	S	+	2	0	ADAM21	69996131	0.009000	0.17119	0.070000	0.20053	0.132000	0.20833	1.074000	0.30703	0.710000	0.31997	-0.140000	0.14226	TCA	ADAM21	-	NULL		0.378	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	C			70926378	1	no_errors	ENST00000267499	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	70926378	C	G	70926378	4	3	160	1	0	0	0	0	0	1	0	0	243	838	29	1	2164	1	ADAM21	14	70926378	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	754984	70926378	36423162	1536	29809										
MED6	10001	genome.wustl.edu	37	chr14	71051553	71051553	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgaagtctcatccgtttttCaggggggcctttagcactca	10	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:71051553C>T	ENST00000256379.5	-	8	747	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	MED6_ENST00000554963.1_Missense_Mutation_p.E240K|MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Missense_Mutation_p.E247K	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	240					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		ATCCGTTTTTCAGGGGGGCCT	0.448																																																	0													207	183	191					14																	71051553		2203	4300	6503	SO:0001583	missense	10001			BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.718G>A	14.37:g.71051553C>T	ENSP00000256379:p.Glu240Lys		B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Missense_Mutation	SNP	pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln	p.E240K	ENST00000256379.5	37	c.718	CCDS9805.1	14	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069129	0.76301	.	.	ENSG00000133997	ENST00000554963;ENST00000256379;ENST00000430055	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.80847	2.515	0.80722	D	1	B;P	0.52842	0.002;0.956	B;P	0.62184	0.002;0.899	T	0.79410	-0.1815	9	0.48119	T	0.1	-14.1936	18.7148	0.91671	0.0:1.0:0.0:0.0	.	247;240	B4DU17;O75586	.;MED6_HUMAN	K	240;240;247	.	ENSP00000256379:E240K	E	-	1	0	MED6	70121306	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.076000	0.71267	2.716000	0.92895	0.655000	0.94253	GAA	MED6	-	pirsf_Mediator_Med6_met/pln		0.448	MED6-001	KNOWN	basic|CCDS	protein_coding	MED6	HGNC	protein_coding	OTTHUMT00000412560.2	C	NM_005466		71051553	-1	no_errors	ENST00000256379	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71051553	C	T	71051553	3	4	160	1	0	0	0	0	1	0	0	0	9474	835	29	1	26	1	MED6	14	71051553	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	125175	71051553	36297987	1537	29810										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72054767	72054767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtaggacccccccgaagtGaaggttctcaccatataacc	8	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:72054767G>A	ENST00000555818.1	+	2	526	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E60K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E60K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	60					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCCCGAAGTGAAGGTTCTCA	0.507																																																	0													66	73	71					14																	72054767		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.178G>A	14.37:g.72054767G>A	ENSP00000450832:p.Glu60Lys		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E60K	ENST00000555818.1	37	c.178	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960996	0.53400	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.77620	-1.11;-1.1;-1.11	5.48	5.48	0.80851	.	0.127590	0.53938	D	0.000050	T	0.81351	0.4804	L	0.48642	1.525	0.80722	D	1	B;D;B	0.62365	0.176;0.991;0.176	B;P;B	0.55999	0.07;0.789;0.07	T	0.75912	-0.3150	10	0.18276	T	0.48	-23.7861	19.7112	0.96096	0.0:0.0:1.0:0.0	.	60;60;60	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	K	60	ENSP00000370630:E60K;ENSP00000450832:E60K;ENSP00000351352:E60K	ENSP00000351352:E60K	E	+	1	0	SIPA1L1	71124520	1.000000	0.71417	0.979000	0.43373	0.622000	0.37654	7.471000	0.80985	2.722000	0.93159	0.655000	0.94253	GAA	SIPA1L1	-	NULL		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72054767	1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72054767	G	A	72054767	3	1	160	1	0	0	0	0	1	0	0	0	14359	1291	45	1	180	1	SIPA1L1	14	72054767	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1003214	72054767	35294773	1538	29811										
ZFYVE1	53349	genome.wustl.edu	37	chr14	73441663	73441663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggacgtcgcacacttgttgCagctctgttccaagcccaaa	9	13	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:73441663C>T	ENST00000556143.1	-	10	2531	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C604Y|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.C189Y|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C590Y|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.C189Y	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	604					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACACTTGTTGCAGCTCTGTTC	0.507																																																	0													72	69	70					14																	73441663		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1811G>A	14.37:g.73441663C>T	ENSP00000450742:p.Cys604Tyr		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.C604Y	ENST00000556143.1	37	c.1811	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.158967	0.94686	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	D;D;D;D;D	0.99845	-7.12;-7.12;-7.12;-7.12;-7.12	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.091921	0.85682	D	0.000000	D	0.99928	0.9967	H	0.99820	4.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96087	0.9058	10	0.87932	D	0	-21.3611	20.8794	0.99867	0.0:1.0:0.0:0.0	.	604;604	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Y	604;590;604;189;189	ENSP00000452442:C604Y;ENSP00000326921:C590Y;ENSP00000450742:C604Y;ENSP00000377757:C189Y;ENSP00000452232:C189Y	ENSP00000326921:C604Y	C	-	2	0	ZFYVE1	72511416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGC	ZFYVE1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.507	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	C	NM_021260		73441663	-1	no_errors	ENST00000553891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73441663	C	T	73441663	3	4	160	1	0	0	0	0	1	0	0	0	17693	710	25	4	534	4	ZFYVE1	14	73441663	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1386896	73441663	33907877	1539	29812										
C14orf169	399671	genome.wustl.edu	37	chr14	73957911	73957911	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgctgcctagcgagaactcGgaggaatcgagggtggagtc	16	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:73957911G>C	ENST00000553558.1	-	17	3166				HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCGAGAACTCGGAGGAATCGA	0.677																																																	0													29	32	31					14																	73957911		1957	4133	6090	SO:0001627	intron_variant	79697			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1858C>G	14.37:g.73957911G>C			B7Z7V9|E9KL41	RNA	SNP	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-		0.677	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2	G	NM_203309		73957911	1	no_errors	ENST00000531973	ensembl	human	known	70_37	rna	SNP	1.000	C	C	73957911	G	C	73957911	1	2	160	0	1	0	0	0	0	0	0	0	1762	1103	39	2		2	C14orf169	14	73957911	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	516248	73957911	33391629	1540	29813										
HEATR4	399671	genome.wustl.edu	37	chr14	73987662	73987662	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtttggggctgggagaggctCgtcttttcatggatatcctc	14	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:73987662C>T	ENST00000553558.1	-	4	1284	c.963G>A	c.(961-963)acG>acA	p.T321T	HEATR4_ENST00000560393.1_Silent_p.T274T|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Silent_p.T321T	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	321										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGGAGAGGCTCGTCTTTTCAT	0.512																																																	0													162	147	152					14																	73987662		2203	4300	6503	SO:0001819	synonymous_variant	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.963G>A	14.37:g.73987662C>T			B7Z7V9|E9KL41	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.T321	ENST00000553558.1	37	c.963	CCDS9815.2	14																																																																																			HEATR4	-	NULL		0.512	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73987662	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	silent	SNP	0.000	T	T	73987662	C	T	73987662	2	4	160	1	0	0	0	0	0	0	0	1	7050	871	31	1		1	HEATR4	14	73987662	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	29751	73987662	33361878	1541	29814										
C14orf43	91748	genome.wustl.edu	37	chr14	74196685	74196685	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caacttgacattcatgtcctCtgcctggagaaggaaagaaa	9	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:74196685C>G	ENST00000286523.5	-	4	2535	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E585Q	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E585Q(1)									TTCATGTCCTCTGCCTGGAGA	0.567																																																	1	Substitution - Missense(1)	urinary_tract(1)											31	30	30					14																	74196685		2202	4299	6501	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1753G>C	14.37:g.74196685C>G	ENSP00000286523:p.Glu585Gln		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E585Q	ENST00000286523.5	37	c.1753	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	C	9.097	1.003070	0.19121	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.15487	2.43;2.43;2.43;2.42	5.25	5.25	0.73442	.	0.263074	0.32301	N	0.006297	T	0.10121	0.0248	L	0.27053	0.805	0.20196	N	0.999922	P;B	0.35272	0.493;0.18	B;B	0.26202	0.067;0.064	T	0.27434	-1.0074	10	0.19147	T	0.46	-15.8418	11.47	0.50264	0.1796:0.8204:0.0:0.0	.	585;585	A0PJD3;Q6PJG2	.;CN043_HUMAN	Q	585	ENSP00000377634:E585Q;ENSP00000286523:E585Q;ENSP00000407767:E585Q;ENSP00000402380:E585Q	ENSP00000286523:E585Q	E	-	1	0	C14orf43	73266438	0.995000	0.38212	0.932000	0.37286	0.026000	0.11368	4.958000	0.63660	2.434000	0.82447	0.579000	0.79373	GAG	ELMSAN1	-	NULL		0.567	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	C	NM_194278		74196685	-1	no_errors	ENST00000286523	ensembl	human	known	70_37	missense	SNP	0.555	G	G	74196685	C	G	74196685	3	3	160	1	0	0	0	0	1	0	0	0	1778	922	32	1	1420	1	C14orf43	14	74196685	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	209023	74196685	33152855	1542	29815										
YLPM1	56252	genome.wustl.edu	37	chr14	75277119	75277119	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagaacgccgaccccgagatGataggtatgctataaaacaa	10	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:75277119G>A	ENST00000552421.1	+	8	3230	c.3106G>A	c.(3106-3108)Gat>Aat	p.D1036N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1547N|YLPM1_ENST00000325680.7_Missense_Mutation_p.D1742N			P49750	YLPM1_HUMAN	YLP motif containing 1	1547	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCCCGAGATGATAGGTATGC	0.373																																																	0													106	99	101					14																	75277119		1849	4083	5932	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3106G>A	14.37:g.75277119G>A	ENSP00000447921:p.Asp1036Asn		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.D1742N	ENST00000552421.1	37	c.5224		14	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476856	0.84640	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.07567	3.18;3.18;3.18	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000004	T	0.17959	0.0431	N	0.17082	0.46	0.49051	D	0.99974	D;P	0.71674	0.998;0.865	D;P	0.78314	0.991;0.519	T	0.05666	-1.0871	10	0.48119	T	0.1	-11.9842	20.1124	0.97915	0.0:0.0:1.0:0.0	.	1547;1742	P49750-3;P49750-4	.;.	N	1036;1742;1547;1455;151	ENSP00000447921:D1036N;ENSP00000324463:D1742N;ENSP00000238571:D1547N	ENSP00000238571:D1547N	D	+	1	0	YLPM1	74346872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.055000	0.71103	2.749000	0.94314	0.655000	0.94253	GAT	YLPM1	-	NULL		0.373	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75277119	1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75277119	G	A	75277119	3	1	160	1	0	0	0	0	1	0	0	0	17517	1290	45	1	5258	1	YLPM1	14	75277119	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1080434	75277119	32072421	1543	29816										
C14orf4	64207	genome.wustl.edu	37	chr14	77493983	77493983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcagctggcgcgctgtctcGatcacgaattcgatgcgatc	11	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:77493983G>C	ENST00000238647.3	-	1	1051	c.153C>G	c.(151-153)atC>atG	p.I51M		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	51					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCGCTGTCTCGATCACGAATT	0.692																																																	0													17	19	18					14																	77493983		2202	4299	6501	SO:0001583	missense	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.153C>G	14.37:g.77493983G>C	ENSP00000238647:p.Ile51Met		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.I51M	ENST00000238647.3	37	c.153	CCDS9854.1	14	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878274	0.33162	.	.	ENSG00000119669	ENST00000238647	T	0.54675	0.56	3.86	2.01	0.26516	Interferon regulatory factor 2-binding protein 1 &amp (1); 2, zinc finger (1);	0.156096	0.37577	U	0.002022	T	0.58595	0.2133	L	0.46157	1.445	0.47341	D	0.999399	D	0.89917	1.0	D	0.91635	0.999	T	0.56420	-0.7982	10	0.66056	D	0.02	-2.2413	4.3099	0.10965	0.2634:0.0:0.579:0.1575	.	51	Q9H1B7	I2BPL_HUMAN	M	51	ENSP00000238647:I51M	ENSP00000238647:I51M	I	-	3	3	IRF2BPL	76563736	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.272000	0.43373	0.301000	0.22738	0.205000	0.17691	ATC	IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.692	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	G	NM_024496		77493983	-1	no_errors	ENST00000238647	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77493983	G	C	77493983	3	2	160	1	0	0	0	0	1	0	0	0	1777	1048	37	1	2241	1	C14orf4	14	77493983	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2216864	77493983	29855557	1544	29817										
AHSA1	10598	genome.wustl.edu	37	chr14	77929015	77929015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccttgccaaagatgagcctGacacaaatctcgtggcctta	9	12	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:77929015G>A	ENST00000216479.3	+	4	545	c.385G>A	c.(385-387)Gac>Aac	p.D129N	AHSA1_ENST00000535854.2_Missense_Mutation_p.D129N|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	129					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGATGAGCCTGACACAAATCT	0.458																																																	0													125	116	119					14																	77929015		2203	4300	6503	SO:0001583	missense	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.385G>A	14.37:g.77929015G>A	ENSP00000216479:p.Asp129Asn		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.D129N	ENST00000216479.3	37	c.385	CCDS9863.1	14	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861833	0.71949	.	.	ENSG00000100591	ENST00000216479;ENST00000535854	.	.	.	5.61	5.61	0.85477	Activator of Hsp90 ATPase, N-terminal (2);	0.131263	0.64402	D	0.000001	T	0.55386	0.1917	L	0.31664	0.95	0.80722	D	1	B;B	0.20459	0.045;0.026	B;B	0.27608	0.081;0.027	T	0.47522	-0.9111	9	0.28530	T	0.3	-30.8331	19.6154	0.95632	0.0:0.0:1.0:0.0	.	129;129	B4DUR9;O95433	.;AHSA1_HUMAN	N	129	.	ENSP00000216479:D129N	D	+	1	0	AHSA1	76998768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.457000	0.80775	2.629000	0.89072	0.557000	0.71058	GAC	AHSA1	-	pfam_AHSA1_N,superfamily_AHSA1_N		0.458	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	G	NM_012111		77929015	1	no_errors	ENST00000216479	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77929015	G	A	77929015	3	1	160	1	0	0	0	0	1	0	0	0	418	1290	45	1	399	1	AHSA1	14	77929015	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	435032	77929015	29420525	1545	29818										
ADCK1	57143	genome.wustl.edu	37	chr14	78365500	78365500	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgagtttatgtggcttgtgGatgaagccaagaagaacctg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:78365500G>A	ENST00000238561.5	+	6	739	c.640G>A	c.(640-642)Gat>Aat	p.D214N	ADCK1_ENST00000341211.5_Missense_Mutation_p.D146N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	221	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GTGGCTTGTGGATGAAGCCAA	0.488																																																	0													171	147	155					14																	78365500		2203	4300	6503	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.640G>A	14.37:g.78365500G>A	ENSP00000238561:p.Asp214Asn		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.D214N	ENST00000238561.5	37	c.640	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.690806	0.96793	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.56611	0.45;0.45;0.45	5.53	5.53	0.82687	.	0.146104	0.64402	D	0.000012	T	0.71099	0.3300	M	0.72624	2.21	0.80722	D	1	D;P	0.53885	0.963;0.846	P;P	0.62740	0.906;0.508	T	0.69198	-0.5208	10	0.40728	T	0.16	-5.9424	19.4736	0.94973	0.0:0.0:1.0:0.0	.	146;214	Q9UIE6;Q86TW2-2	.;.	N	214;214;146	ENSP00000238561:D214N;ENSP00000451549:D214N;ENSP00000339663:D146N	ENSP00000238561:D214N	D	+	1	0	ADCK1	77435253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.768000	0.98965	2.596000	0.87737	0.591000	0.81541	GAT	ADCK1	-	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom		0.488	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	G	NM_020421		78365500	1	no_errors	ENST00000238561	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78365500	G	A	78365500	3	1	160	1	0	0	0	0	1	0	0	0	288	1174	41	1	658	1	ADCK1	14	78365500	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	436485	78365500	28984040	1546	29819	188	2								
ADCK1	57143	genome.wustl.edu	37	chr14	78365503	78365503	+	Missense_Mutation	SNP	G	G	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtttatgtggcttgtggatGaagccaagaagaacctgcct							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:78365503G>A	ENST00000238561.5	+	6	742	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ADCK1_ENST00000341211.5_Missense_Mutation_p.E147K	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	222	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTTGTGGATGAAGCCAAGAA	0.498																																																	0													169	146	154					14																	78365503		2203	4300	6503	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.643G>A	14.37:g.78365503G>A	ENSP00000238561:p.Glu215Lys		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.E215K	ENST00000238561.5	37	c.643	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.560629	0.96527	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.58506	0.7;0.33;0.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.99	D	0.92447	0.5967	10	0.59425	D	0.04	-3.37	19.4736	0.94973	0.0:0.0:1.0:0.0	.	147;215	Q9UIE6;Q86TW2-2	.;.	K	215;215;147	ENSP00000238561:E215K;ENSP00000451549:E215K;ENSP00000339663:E147K	ENSP00000238561:E215K	E	+	1	0	ADCK1	77435256	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.768000	0.98965	2.596000	0.87737	0.591000	0.81541	GAA	ADCK1	-	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom		0.498	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	G	NM_020421		78365503	1	no_errors	ENST00000238561	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78365503	G	A	78365503	3	1	160	1	0	0	0	0	1	0	0	0	288	1291	45	1	661	1	ADCK1	14	78365503	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3	78365503	28984037	1547	29820	188	2								
GPR65	8477	genome.wustl.edu	37	chr14	88477740	88477740	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagaaatggcaaatcaacctCaacttgttcaggacgtgtac	9	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:88477740C>G	ENST00000267549.3	+	2	1107	c.549C>G	c.(547-549)ctC>ctG	p.L183L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	183					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AAATCAACCTCAACTTGTTCA	0.428																																																	0													90	88	89					14																	88477740		2203	4299	6502	SO:0001819	synonymous_variant	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.549C>G	14.37:g.88477740C>G			O75819	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.L183	ENST00000267549.3	37	c.549	CCDS9879.1	14																																																																																			GPR65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt		0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR65	HGNC	protein_coding	OTTHUMT00000071564.4	C			88477740	1	no_errors	ENST00000267549	ensembl	human	known	70_37	silent	SNP	0.034	G	G	88477740	C	G	88477740	2	3	160	1	0	0	0	0	0	0	0	1	6725	813	29	1		1	GPR65	14	88477740	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	10112237	88477740	18871800	1548	29821										
PTPN21	11099	genome.wustl.edu	37	chr14	89016638	89016638	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctttcctggccagtgctctCcacggacagggtgaactcca	11	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:89016638C>G	ENST00000556564.1	-	2	408	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.E42Q|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	42	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGTGCTCTCCACGGACAGG	0.612																																																	0													106	103	104					14																	89016638		2203	4300	6503	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.124G>C	14.37:g.89016638C>G	ENSP00000452414:p.Glu42Gln			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E42Q	ENST00000556564.1	37	c.124	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026666	0.93518	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.77098	-1.07;-1.07;-1.07	5.5	5.5	0.81552	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	L	0.33485	1.01	0.58432	D	0.999991	D;D	0.76494	0.998;0.999	D;D	0.85130	0.969;0.997	D	0.83437	0.0041	10	0.46703	T	0.11	.	19.3935	0.94596	0.0:1.0:0.0:0.0	.	42;42	G3V3S6;Q16825	.;PTN21_HUMAN	Q	42	ENSP00000330276:E42Q;ENSP00000452414:E42Q;ENSP00000451401:E42Q	ENSP00000330276:E42Q	E	-	1	0	PTPN21	88086391	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.604000	0.82830	2.587000	0.87381	0.561000	0.74099	GAG	PTPN21	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain		0.612	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	C			89016638	-1	no_errors	ENST00000328736	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89016638	C	G	89016638	3	3	160	1	0	0	0	0	1	0	0	0	12816	864	30	1	3472	1	PTPN21	14	89016638	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	538898	89016638	18332902	1549	29822										
TC2N	123036	genome.wustl.edu	37	chr14	92278671	92278671	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttaccttcaagttcttccaGatgtgaaggagtttcttgtg	9	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:92278671G>A	ENST00000435962.2	-	3	609	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TC2N_ENST00000556018.1_Silent_p.L96L|TC2N_ENST00000340892.5_Silent_p.L96L|TC2N_ENST00000360594.5_Silent_p.L96L	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	96					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGTTCTTCCAGATGTGAAGGA	0.308																																																	0													98	88	91					14																	92278671		2203	4300	6503	SO:0001819	synonymous_variant	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.286C>T	14.37:g.92278671G>A				Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L96	ENST00000435962.2	37	c.286	CCDS9897.1	14																																																																																			TC2N	-	NULL		0.308	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	G	NM_152332		92278671	-1	no_errors	ENST00000340892	ensembl	human	known	70_37	silent	SNP	0.869	A	A	92278671	G	A	92278671	2	1	160	1	0	0	0	0	0	0	0	1	15695	933	33	1		1	TC2N	14	92278671	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3262033	92278671	15070869	1550	29823										
TRIP11	9321	genome.wustl.edu	37	chr14	92472348	92472348	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagctgttctaattctgaaaGattttgctttaagtttctaa	7	5	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:92472348G>A	ENST00000267622.4	-	11	2345	c.1972C>T	c.(1972-1974)Ctt>Ttt	p.L658F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	658					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATTCTGAAAGATTTTGCTTT	0.299			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													36	37	37					14																	92472348		2200	4292	6492	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1972C>T	14.37:g.92472348G>A	ENSP00000267622:p.Leu658Phe		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.L658F	ENST00000267622.4	37	c.1972	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.896406|2.896406	0.52121|0.52121	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07327|.	3.2|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.140472|.	0.47852|.	N|.	0.000204|.	T|T	0.69459|0.69459	0.3113|0.3113	M|M	0.72894|0.72894	2.215|2.215	0.37195|0.37195	D|D	0.904123|0.904123	D;D|.	0.63046|.	0.992;0.992|.	P;D|.	0.64237|.	0.907;0.923|.	T|T	0.72581|0.72581	-0.4250|-0.4250	10|5	0.10111|.	T|.	0.7|.	.|.	13.4544|13.4544	0.61191|0.61191	0.0:0.1189:0.7579:0.1232|0.0:0.1189:0.7579:0.1232	.|.	394;658|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	F|F	658;394|373	ENSP00000267622:L658F|.	ENSP00000267622:L658F|.	L|S	-|-	1|2	0|0	TRIP11|TRIP11	91542101|91542101	0.988000|0.988000	0.35896|0.35896	0.997000|0.997000	0.53966|0.53966	0.764000|0.764000	0.43329|0.43329	2.044000|2.044000	0.41241|0.41241	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTT|TCT	TRIP11	-	NULL		0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	G			92472348	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.963	A	A	92472348	G	A	92472348	3	1	160	1	0	0	0	0	1	0	0	0	16586	942	33	1	4011	1	TRIP11	14	92472348	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	193677	92472348	14877192	1551	29824										
KIAA1409	57578	genome.wustl.edu	37	chr14	94160720	94160720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccatgtgattagtttaatgGaggcattgcaggaatgcaat	11	5	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:94160720G>A	ENST00000393151.2	+	48	7627	c.7627G>A	c.(7627-7629)Gag>Aag	p.E2543K	UNC79_ENST00000555664.1_Missense_Mutation_p.E2504K|UNC79_ENST00000553484.1_Missense_Mutation_p.E2565K|UNC79_ENST00000256339.4_Missense_Mutation_p.E2366K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2543					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGTTTAATGGAGGCATTGCA	0.338																																																	0													176	165	169					14																	94160720		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7627G>A	14.37:g.94160720G>A	ENSP00000376858:p.Glu2543Lys		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2565K	ENST00000393151.2	37	c.7693		14	.	.	.	.	.	.	.	.	.	.	G	36	5.604377	0.96626	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.31510	1.49;1.54;1.49;1.49	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.73217	2.22	0.80722	D	1	D	0.64830	0.994	D	0.64410	0.925	T	0.56673	-0.7940	10	0.87932	D	0	-10.9877	19.8179	0.96578	0.0:0.0:1.0:0.0	.	2565	C9JQL1	.	K	2366;2504;2565;2543;2565	ENSP00000256339:E2366K;ENSP00000450868:E2504K;ENSP00000451360:E2565K;ENSP00000376858:E2543K	ENSP00000256339:E2366K	E	+	1	0	KIAA1409	93230473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.789000	0.95967	0.655000	0.94253	GAG	UNC79	-	NULL		0.338	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94160720	1	no_errors	ENST00000553484	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94160720	G	A	94160720	3	1	160	1	0	0	0	0	1	0	0	0	8250	1175	41	1	7274	1	KIAA1409	14	94160720	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1688372	94160720	13188820	1552	29825										
ASB2	51676	genome.wustl.edu	37	chr14	94405904	94405904	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcacgtcgaagcgcgcgctCagcagcgcctccagcacctc	10	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:94405904C>T	ENST00000315988.4	-	6	1511	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	RP11-131H24.4_ENST00000557646.1_5'UTR|ASB2_ENST00000556337.1_5'UTR|ASB2_ENST00000555019.1_Silent_p.L389L	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	341					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGCGCGCGCTCAGCAGCGCCT	0.711																																																	0													8	7	7					14																	94405904		1935	3922	5857	SO:0001819	synonymous_variant	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1023G>A	14.37:g.94405904C>T			B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L341	ENST00000315988.4	37	c.1023	CCDS9915.1	14																																																																																			ASB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.711	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	C			94405904	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94405904	C	T	94405904	2	4	160	1	0	0	0	0	0	0	0	1	1024	813	29	1		1	ASB2	14	94405904	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	245184	94405904	12943636	1553	29826										
EML1	2009	genome.wustl.edu	37	chr14	100402637	100402637	+	Silent	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtaaactcacagttcctCgtgtcaaattccggagacta							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:100402637C>T	ENST00000262233.6	+	19	2200	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	EML1_ENST00000327921.9_Silent_p.L675L|EML1_ENST00000334192.4_Silent_p.L706L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	687	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CACAGTTCCTCGTGTCAAATT	0.493																																																	0													110	90	97					14																	100402637		2203	4300	6503	SO:0001819	synonymous_variant	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2061C>T	14.37:g.100402637C>T			Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L706	ENST00000262233.6	37	c.2118	CCDS32155.1	14																																																																																			EML1	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.493	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	C	NM_001008707		100402637	1	no_errors	ENST00000334192	ensembl	human	known	70_37	silent	SNP	0.931	T	T	100402637	C	T	100402637	2	4	160	1	0	0	0	0	0	0	0	1	5108	871	31	1		1	EML1	14	100402637	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5996733	100402637	6946903	1554	29827	189	2								
EML1	2009	genome.wustl.edu	37	chr14	100402642	100402642	+	Nonsense_Mutation	SNP	C	C	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaactcacagttcctcgtgtCaaattccggagactacgaaa							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:100402642C>G	ENST00000262233.6	+	19	2205	c.2066C>G	c.(2065-2067)tCa>tGa	p.S689*	EML1_ENST00000327921.9_Nonsense_Mutation_p.S677*|EML1_ENST00000334192.4_Nonsense_Mutation_p.S708*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	689	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCCTCGTGTCAAATTCCGGA	0.493																																																	0													105	86	93					14																	100402642		2203	4300	6503	SO:0001587	stop_gained	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2066C>G	14.37:g.100402642C>G	ENSP00000262233:p.Ser689*		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S708*	ENST00000262233.6	37	c.2123	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.782770	0.99263	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9979	17.709	0.88316	0.0:1.0:0.0:0.0	.	.	.	.	X	677;689;708;708	.	ENSP00000262233:S689X	S	+	2	0	EML1	99472395	1.000000	0.71417	0.944000	0.38274	0.978000	0.69477	7.624000	0.83124	2.429000	0.82318	0.561000	0.74099	TCA	EML1	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.493	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	C	NM_001008707		100402642	1	no_errors	ENST00000334192	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	100402642	C	G	100402642	4	3	160	1	0	0	0	0	0	1	0	0	5108	838	29	1	2201	1	EML1	14	100402642	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5	100402642	6946898	1555	29828	189	2								
BEGAIN	57596	genome.wustl.edu	37	chr14	101012896	101012896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcgcgccgcagctcgatctCcaggtagtggcgcgtggagt	16	13	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:101012896C>T	ENST00000355173.2	-	3	189	c.118G>A	c.(118-120)Gag>Aag	p.E40K	BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000443071.2_Missense_Mutation_p.E40K	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	40						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				AGCTCGATCTCCAGGTAGTGG	0.697																																					NSCLC(159;1889 2010 9965 27479 40101)												0													67	64	65					14																	101012896		2203	4300	6503	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.118G>A	14.37:g.101012896C>T	ENSP00000347301:p.Glu40Lys		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.E40K	ENST00000355173.2	37	c.118	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	c	36	5.927151	0.97110	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;D;D;D;D	0.84800	1.88;1.88;-1.9;-1.9;-1.9;-1.9	4.59	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.91280	0.7251	M	0.75777	2.31	0.58432	D	0.999999	D	0.67145	0.996	D	0.76071	0.987	D	0.90993	0.4836	10	0.40728	T	0.16	.	14.9651	0.71184	0.0:1.0:0.0:0.0	.	40	Q9BUH8	BEGIN_HUMAN	K	40;40;52;40;40;59	ENSP00000347301:E40K;ENSP00000411124:E40K;ENSP00000451397:E52K;ENSP00000452157:E40K;ENSP00000450722:E40K;ENSP00000451125:E59K	ENSP00000347301:E40K	E	-	1	0	BEGAIN	100082649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.942000	0.75928	2.105000	0.64084	0.473000	0.43528	GAG	BEGAIN	-	superfamily_Prefoldin		0.697	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	C	NM_020836		101012896	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101012896	C	T	101012896	3	4	160	1	0	0	0	0	1	0	0	0	1398	864	30	1	1683	1	BEGAIN	14	101012896	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	610254	101012896	6336644	1556	29829										
DLK1	8788	genome.wustl.edu	37	chr14	101200864	101200864	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcacccgtctgcccagcggCtatgggctggcctaccgcct	12	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:101200864C>G	ENST00000341267.4	+	5	1025	c.783C>G	c.(781-783)ggC>ggG	p.G261G	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	261					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCCCAGCGGCTATGGGCTGG	0.637																																																	0													34	40	38					14																	101200864		2203	4298	6501	SO:0001819	synonymous_variant	8788			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.783C>G	14.37:g.101200864C>G			P15803|Q96DW5	Silent	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G261	ENST00000341267.4	37	c.783	CCDS9963.1	14																																																																																			DLK1	-	NULL		0.637	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	C			101200864	1	no_errors	ENST00000341267	ensembl	human	known	70_37	silent	SNP	0.000	G	G	101200864	C	G	101200864	2	3	160	1	0	0	0	0	0	0	0	1	4574	784	28	4		4	DLK1	14	101200864	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	187968	101200864	6148676	1557	29830										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102510323	102510323	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaagaagtatgaatttggaGagtctgacctgcggtcagct	12	7	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:102510323G>A	ENST00000360184.4	+	70	12789	c.12625G>A	c.(12625-12627)Gag>Aag	p.E4209K	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4209	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAATTTGGAGAGTCTGACCT	0.562																																																	0													89	77	81					14																	102510323		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12625G>A	14.37:g.102510323G>A	ENSP00000348965:p.Glu4209Lys		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E4209K	ENST00000360184.4	37	c.12625	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.240241	0.95240	.	.	ENSG00000197102	ENST00000360184	T	0.09538	2.97	5.83	5.83	0.93111	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.43686	-0.9376	10	0.52906	T	0.07	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	4209	Q14204	DYHC1_HUMAN	K	4209	ENSP00000348965:E4209K	ENSP00000348965:E4209K	E	+	1	0	DYNC1H1	101580076	1.000000	0.71417	0.997000	0.53966	0.398000	0.30690	8.005000	0.88553	2.769000	0.95229	0.655000	0.94253	GAG	DYNC1H1	-	pfam_Dynein_heavy_dom,superfamily_Glutathione-S-Trfase_C-like		0.562	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102510323	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102510323	G	A	102510323	3	1	160	1	0	0	0	0	1	0	0	0	4851	943	33	1	12903	1	DYNC1H1	14	102510323	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1309459	102510323	4839217	1558	29831										
TRAF3	7187	genome.wustl.edu	37	chr14	103336564	103336564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcgagtaaaaagatggactCtcctggcgcgctgcagacta	12	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:103336564C>T	ENST00000560371.1	+	2	243	c.26C>T	c.(25-27)tCt>tTt	p.S9F	TRAF3_ENST00000539721.1_Missense_Mutation_p.S9F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S9F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S9F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S9F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	9					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAGATGGACTCTCCTGGCGCG	0.493																																																	0													66	69	68					14																	103336564		2203	4300	6503	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.26C>T	14.37:g.103336564C>T	ENSP00000454207:p.Ser9Phe		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S9F	ENST00000560371.1	37	c.26	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908536	0.33721	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.45668	2.21;2.21;2.21;0.89	5.2	5.2	0.72013	.	2.312790	0.01520	N	0.018309	T	0.33089	0.0851	N	0.08118	0	0.32969	D	0.522112	B;P;B	0.34462	0.25;0.454;0.138	B;B;B	0.27887	0.063;0.084;0.037	T	0.47509	-0.9112	10	0.59425	D	0.04	-2.1645	18.7386	0.91765	0.0:1.0:0.0:0.0	.	9;9;9	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	F	9	ENSP00000376500:S9F;ENSP00000328003:S9F;ENSP00000332468:S9F;ENSP00000445998:S9F	ENSP00000328003:S9F	S	+	2	0	TRAF3	102406317	0.081000	0.21417	0.102000	0.21198	0.019000	0.09904	4.046000	0.57376	2.432000	0.82394	0.655000	0.94253	TCT	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF		0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	C	NM_145725		103336564	1	no_errors	ENST00000392745	ensembl	human	known	70_37	missense	SNP	0.958	T	T	103336564	C	T	103336564	3	4	160	1	0	0	0	0	1	0	0	0	16470	913	32	1	28	1	TRAF3	14	103336564	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	826241	103336564	4012976	1559	29832										
CDC42BPB	9578	genome.wustl.edu	37	chr14	103470347	103470347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcacatcgcgctcctctCggaagcacgcggtctgcaaa	10	16	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:103470347C>T	ENST00000361246.2	-	4	653	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.R122Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCGCTCCTCTCGGAAGCACGC	0.627																																																	1	Substitution - Missense(1)	lung(1)											74	55	61					14																	103470347		2203	4300	6503	SO:0001583	missense	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.365G>A	14.37:g.103470347C>T	ENSP00000355237:p.Arg122Gln			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.R122Q	ENST00000361246.2	37	c.365	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.180037	0.94846	.	.	ENSG00000198752	ENST00000361246	T	0.68025	-0.3	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.45698	1.435	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.75382	-0.3337	10	0.49607	T	0.09	.	18.7358	0.91753	0.0:1.0:0.0:0.0	.	122	Q9Y5S2	MRCKB_HUMAN	Q	122	ENSP00000355237:R122Q	ENSP00000355237:R122Q	R	-	2	0	CDC42BPB	102540100	1.000000	0.71417	0.984000	0.44739	0.553000	0.35397	6.005000	0.70716	2.501000	0.84356	0.491000	0.48974	CGA	CDC42BPB	-	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		0.627	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	C	NM_006035		103470347	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	103470347	C	T	103470347	3	4	160	1	0	0	0	0	1	0	0	0	3078	884	31	1	4906	1	CDC42BPB	14	103470347	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	133783	103470347	3879193	1560	29833										
BAG5	9529	genome.wustl.edu	37	chr14	104026644	104026644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttcattttttatttctctCattctcttgaggaccttttc	4	9	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:104026644C>T	ENST00000445922.2	-	2	1104	c.858G>A	c.(856-858)atG>atA	p.M286I	BAG5_ENST00000299204.4_Missense_Mutation_p.M286I|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000556253.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.M327I	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	286	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.M286I(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTATTTCTCTCATTCTCTTGA	0.373																																					NSCLC(171;1832 2055 18950 31566 41632)												1	Substitution - Missense(1)	endometrium(1)											96	104	101					14																	104026644		2203	4300	6503	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.858G>A	14.37:g.104026644C>T	ENSP00000391713:p.Met286Ile		O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.M327I	ENST00000445922.2	37	c.981	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397537	0.42512	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87029	-2.2;-2.2;-2.2	5.65	5.65	0.86999	BAG domain (3);	0.372679	0.30501	N	0.009483	T	0.77384	0.4122	N	0.14661	0.345	0.35385	D	0.790217	B;B	0.28933	0.072;0.228	B;B	0.27796	0.067;0.083	T	0.80679	-0.1275	10	0.51188	T	0.08	-53.2142	13.0002	0.58670	0.0:0.9265:0.0:0.0735	.	286;327	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	I	286;286;327	ENSP00000299204:M286I;ENSP00000391713:M286I;ENSP00000338814:M327I	ENSP00000299204:M286I	M	-	3	0	BAG5	103096397	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.642000	0.54367	2.670000	0.90874	0.655000	0.94253	ATG	BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.373	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	C			104026644	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104026644	C	T	104026644	3	4	160	1	0	0	0	0	1	0	0	0	1291	826	29	1	489	1	BAG5	14	104026644	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	556297	104026644	3322896	1561	29834										
INF2	64423	genome.wustl.edu	37	chr14	105179173	105179173	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccttgcccccaggccagcatCtcggccttccgggcactgga	11	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105179173C>G	ENST00000392634.4	+	18	2731	c.2619C>G	c.(2617-2619)atC>atG	p.I873M	INF2_ENST00000330634.7_Missense_Mutation_p.I873M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	873	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCAGCATCTCGGCCTTCC	0.687																																																	0													21	24	23					14																	105179173		1999	4163	6162	SO:0001583	missense	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2619C>G	14.37:g.105179173C>G	ENSP00000376410:p.Ile873Met		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.I873M	ENST00000392634.4	37	c.2619	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152451	0.21371	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.16897	2.31;2.31	5.06	2.11	0.27256	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.747198	0.12886	N	0.431035	T	0.12689	0.0308	L	0.29908	0.895	0.80722	D	1	P;P	0.43788	0.782;0.817	B;P	0.45998	0.367;0.5	T	0.30387	-0.9980	10	0.32370	T	0.25	.	1.0812	0.01643	0.1435:0.3125:0.2807:0.2633	.	873;873	Q27J81-2;Q27J81	.;INF2_HUMAN	M	873	ENSP00000376406:I873M;ENSP00000376410:I873M	ENSP00000252527:I341M	I	+	3	3	INF2	104250218	0.000000	0.05858	0.016000	0.15963	0.234000	0.25298	-0.668000	0.05268	0.120000	0.18254	0.561000	0.74099	ATC	INF2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	C	NM_022489		105179173	1	no_errors	ENST00000392634	ensembl	human	known	70_37	missense	SNP	0.129	G	G	105179173	C	G	105179173	3	3	160	1	0	0	0	0	1	0	0	0	7754	903	32	1	2689	1	INF2	14	105179173	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1152529	105179173	2170367	1562	29835										
AHNAK2	113146	genome.wustl.edu	37	chr14	105413636	105413636	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccctcgggaacgtggccctCtgggagtttcacatccacct	10	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105413636C>G	ENST00000333244.5	-	7	8271	c.8152G>C	c.(8152-8154)Gag>Cag	p.E2718Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2718						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTGGCCCTCTGGGAGTTTC	0.617																																																	0													124	136	132					14																	105413636		1913	4119	6032	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8152G>C	14.37:g.105413636C>G	ENSP00000353114:p.Glu2718Gln		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E2718Q	ENST00000333244.5	37	c.8152	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	10.54	1.377916	0.24944	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	3.48	1.55	0.23275	.	.	.	.	.	T	0.02119	0.0066	M	0.82132	2.575	0.09310	N	1	P	0.38729	0.644	B	0.43623	0.425	T	0.37454	-0.9705	9	0.29301	T	0.29	.	6.7602	0.23536	0.0:0.6826:0.0:0.3173	.	2718	Q8IVF2	AHNK2_HUMAN	Q	2718	ENSP00000353114:E2718Q	ENSP00000353114:E2718Q	E	-	1	0	AHNAK2	104484681	0.581000	0.26741	0.001000	0.08648	0.019000	0.09904	0.878000	0.28126	0.012000	0.14892	0.313000	0.20887	GAG	AHNAK2	-	NULL		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105413636	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.001	G	G	105413636	C	G	105413636	3	3	160	1	0	0	0	0	1	0	0	0	415	922	32	1	9239	1	AHNAK2	14	105413636	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	234463	105413636	1935904	1563	29836										
C14orf80	283643	genome.wustl.edu	37	chr14	105963729	105963729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagcgtgagaaccagcgcctGgaggctgtcctggcgtggcg	18	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr14:105963729G>A	ENST00000392523.4	+	7	1048	c.927G>A	c.(925-927)ctG>ctA	p.L309L	C14orf80_ENST00000334656.7_Silent_p.L166L|C14orf80_ENST00000392522.3_Silent_p.L240L|C14orf80_ENST00000450383.1_Silent_p.L62L|C14orf80_ENST00000354560.6_Silent_p.L207L|C14orf80_ENST00000329886.7_Silent_p.L168L|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000392527.1_Silent_p.L166L			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	309										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		ACCAGCGCCTGGAGGCTGTCC	0.662																																																	0													44	42	43					14																	105963729		2152	4250	6402	SO:0001819	synonymous_variant	283643				CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.927G>A	14.37:g.105963729G>A			B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Silent	SNP	NULL	p.L309	ENST00000392523.4	37	c.927		14																																																																																			C14orf80	-	NULL		0.662	C14orf80-017	KNOWN	basic	protein_coding	C14orf80	HGNC	protein_coding	OTTHUMT00000409090.1	G	NM_001134875		105963729	1	no_errors	ENST00000392523	ensembl	human	known	70_37	silent	SNP	0.942	A	A	105963729	G	A	105963729	2	1	160	1	0	0	0	0	0	0	0	1	1785	1335	47	4		4	C14orf80	14	105963729	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	550093	105963729	1385811	1564	29837										
CYFIP1	23191	genome.wustl.edu	37	chr15	22928439	22928439	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgagcagcctaacagagtgGaaatctacgagaaaaccgtg	11	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:22928439G>C	ENST00000313077.7	+	5	441	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E106Q	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TAACAGAGTGGAAATCTACGA	0.473																																																	0													140	154	149					15																	22928439		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.316G>C	15.37:g.22928439G>C	ENSP00000324549:p.Glu106Gln			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.E106Q	ENST00000313077.7	37	c.316	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055682	0.55325	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.48201	0.82	4.84	4.84	0.62591	.	0.146334	0.46758	N	0.000280	T	0.66733	0.2819	M	0.69358	2.11	0.80722	D	1	D;B	0.63880	0.993;0.018	D;B	0.70227	0.968;0.063	T	0.65606	-0.6127	10	0.39692	T	0.17	-18.022	18.1393	0.89634	0.0:0.0:1.0:0.0	.	134;106	E7EQ04;Q7L576	.;CYFP1_HUMAN	Q	106;134	ENSP00000324549:E106Q	ENSP00000324549:E106Q	E	+	1	0	CYFIP1	20479880	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.403000	0.97302	2.520000	0.84964	0.561000	0.74099	GAA	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int		0.473	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22928439	1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22928439	G	C	22928439	3	2	160	1	0	0	0	0	1	0	0	0	4142	1175	41	1	330	1	CYFIP1	15	22928439	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		22928439	79602953	1565	29838										
CYFIP1	23191	genome.wustl.edu	37	chr15	22997803	22997803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctctgctctagtctttaGaagaagtgtgtgacctgctg	10	8	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:22997803G>A	ENST00000313077.7	+	27	3174	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CYFIP1_ENST00000435939.2_Missense_Mutation_p.E586K|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1017K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTAGTCTTTAGAAGAAGTGTG	0.522																																																	0													195	191	192					15																	22997803		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3049G>A	15.37:g.22997803G>A	ENSP00000324549:p.Glu1017Lys			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.E1017K	ENST00000313077.7	37	c.3049	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234082	0.79688	.	.	ENSG00000068793	ENST00000313077;ENST00000435939	T;T	0.23950	1.88;1.88	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.56587	0.1995	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.68943	0.961;0.876	T	0.55088	-0.8195	10	0.27082	T	0.32	.	19.7152	0.96115	0.0:0.0:1.0:0.0	.	586;1017	Q7L576-2;Q7L576	.;CYFP1_HUMAN	K	1017;586	ENSP00000324549:E1017K;ENSP00000405956:E586K	ENSP00000324549:E1017K	E	+	1	0	CYFIP1	20549244	1.000000	0.71417	0.983000	0.44433	0.036000	0.12997	9.509000	0.98002	2.733000	0.93635	0.591000	0.81541	GAA	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.522	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22997803	1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22997803	G	A	22997803	3	1	160	1	0	0	0	0	1	0	0	0	4142	943	33	1	3532	1	CYFIP1	15	22997803	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	69364	22997803	79533589	1566	29839										
MTMR15	22909	genome.wustl.edu	37	chr15	31221463	31221463	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagcagacgcccagcccttGaggccaggctgcagctgatt	12	14	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:31221463G>C	ENST00000362065.4	+	12	2941	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	884					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCCAGCCCTTGAGGCCAGGCT	0.607								Direct reversal of damage																																									0													94	91	92					15																	31221463		2202	4300	6502	SO:0001583	missense	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2650G>C	15.37:g.31221463G>C	ENSP00000354497:p.Glu884Gln		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.E884Q	ENST00000362065.4	37	c.2650	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688017	0.68271	.	.	ENSG00000198690	ENST00000362065	T	0.51817	0.69	5.39	5.39	0.77823	.	0.058400	0.64402	D	0.000002	T	0.61426	0.2346	M	0.71581	2.175	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.51895	0.633;0.683	T	0.63717	-0.6574	10	0.52906	T	0.07	-30.0295	19.1258	0.93384	0.0:0.0:1.0:0.0	.	884;884	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	Q	884	ENSP00000354497:E884Q	ENSP00000354497:E884Q	E	+	1	0	FAN1	29008755	1.000000	0.71417	0.973000	0.42090	0.437000	0.31866	6.971000	0.76105	2.684000	0.91462	0.650000	0.86243	GAG	FAN1	-	NULL		0.607	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31221463	1	no_errors	ENST00000362065	ensembl	human	known	70_37	missense	SNP	0.999	C	C	31221463	G	C	31221463	3	2	160	1	0	0	0	0	1	0	0	0	9966	1291	45	1	2717	1	MTMR15	15	31221463	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	8223660	31221463	71309929	1567	29840										
TRPM1	4308	genome.wustl.edu	37	chr15	31354877	31354877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctgaatggtaactagaaGctgctccctgagggactcat	10	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:31354877G>A	ENST00000256552.6	-	9	1141	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	TRPM1_ENST00000542188.1_Missense_Mutation_p.L349F|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.L310F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAACTAGAAGCTGCTCCCTG	0.338																																																	0													110	98	101					15																	31354877		1812	4079	5891	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.994C>T	15.37:g.31354877G>A	ENSP00000256552:p.Leu332Phe			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L349F	ENST00000256552.6	37	c.1045	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107411	0.77096	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61158	0.13;0.13;0.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	M	0.66939	2.045	0.80722	D	1	P;D	0.53462	0.504;0.96	B;P	0.55391	0.442;0.775	T	0.68330	-0.5437	10	0.38643	T	0.18	-21.8934	19.8968	0.96969	0.0:0.0:1.0:0.0	.	304;310	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	F	310;349;332;310	ENSP00000380897:L310F;ENSP00000437849:L349F;ENSP00000256552:L332F	ENSP00000256552:L332F	L	-	1	0	TRPM1	29142169	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	6.630000	0.74272	2.691000	0.91804	0.655000	0.94253	CTT	TRPM1	-	NULL		0.338	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31354877	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31354877	G	A	31354877	3	1	160	1	0	0	0	0	1	0	0	0	16616	971	34	4	3963	4	TRPM1	15	31354877	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	133414	31354877	71176515	1568	29841										
SCG5	6447	genome.wustl.edu	37	chr15	32983947	32983947	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgagaagatgaagggaggaGagagacgaaagcggagggta	19	3	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:32983947G>A	ENST00000300175.4	+	5	636	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SCG5_ENST00000494364.1_Intron|SCG5_ENST00000497208.1_Intron|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000413748.2_Missense_Mutation_p.E175K	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	176					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GAAGGGAGGAGAGAGACGAAA	0.468																																																	0													112	122	119					15																	32983947		1968	4146	6114	SO:0001583	missense	6447			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"prohormone convertase chaperone"	173120	"secretory granule, neuroendocrine protein 1 (7B2 protein)"	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.526G>A	15.37:g.32983947G>A	ENSP00000300175:p.Glu176Lys		P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	pfam_Secretogranin_V	p.E176K	ENST00000300175.4	37	c.526	CCDS45207.1	15	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689391	0.29962	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000471027	.	.	.	5.08	3.16	0.36331	.	0.394418	0.30630	N	0.009215	T	0.35422	0.0931	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.014	T	0.20672	-1.0268	9	0.06236	T	0.91	.	15.2102	0.73219	0.0:0.7208:0.2792:0.0	.	176;175	P05408;Q6FHD0	7B2_HUMAN;.	K	176;175;166	.	ENSP00000300175:E176K	E	+	1	0	SCG5	30771239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.550000	0.53691	0.808000	0.34231	-0.165000	0.13383	GAG	SCG5	-	pfam_Secretogranin_V		0.468	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCG5	HGNC	protein_coding	OTTHUMT00000355438.1	G	NM_003020		32983947	1	no_errors	ENST00000300175	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32983947	G	A	32983947	3	1	160	1	0	0	0	0	1	0	0	0	13923	943	33	1	540	1	SCG5	15	32983947	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1629070	32983947	69547445	1569	29842										
CHRM5	1133	genome.wustl.edu	37	chr15	34356038	34356038	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgctcatagacccaagagtCagaaatgtgtggcctataag	10	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34356038C>T	ENST00000383263.5	+	3	1790	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.Q374*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	374					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCCAAGAGTCAGAAATGTGT	0.468																																																	0													84	88	87					15																	34356038		2201	4298	6499	SO:0001587	stop_gained	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1120C>T	15.37:g.34356038C>T	ENSP00000372750:p.Gln374*		Q96RG7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.Q374*	ENST00000383263.5	37	c.1120	CCDS10031.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.516309	0.98845	.	.	ENSG00000184984	ENST00000383263	.	.	.	5.64	4.7	0.59300	.	0.438594	0.23463	N	0.047915	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.4569	13.7379	0.62829	0.3327:0.6673:0.0:0.0	.	.	.	.	X	374	.	ENSP00000372750:Q374X	Q	+	1	0	CHRM5	32143330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.587000	0.36622	1.557000	0.49525	0.650000	0.86243	CAG	CHRM5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	HGNC	protein_coding	OTTHUMT00000251521.2	C			34356038	1	no_errors	ENST00000383263	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	34356038	C	T	34356038	4	4	160	1	0	0	0	0	0	1	0	0	3385	827	29	1	1122	1	CHRM5	15	34356038	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1372091	34356038	68175354	1570	29843										
CHRM5	1133	genome.wustl.edu	37	chr15	34356124	34356124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggctgtcacaaggtgaaaatCatgccctgccccttcccagt	9	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:34356124C>T	ENST00000383263.5	+	3	1876	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	CHRM5_ENST00000557872.1_Silent_p.I402I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	402					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGTGAAAATCATGCCCTGCC	0.502																																																	0													87	89	89					15																	34356124		2201	4298	6499	SO:0001819	synonymous_variant	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1206C>T	15.37:g.34356124C>T			Q96RG7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.I402	ENST00000383263.5	37	c.1206	CCDS10031.1	15																																																																																			CHRM5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt		0.502	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	HGNC	protein_coding	OTTHUMT00000251521.2	C			34356124	1	no_errors	ENST00000383263	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34356124	C	T	34356124	2	4	160	1	0	0	0	0	0	0	0	1	3385	816	29	1		1	CHRM5	15	34356124	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	86	34356124	68175268	1571	29844										
AQR	9716	genome.wustl.edu	37	chr15	35159783	35159783	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaatatagtcattctgttGaccttgaaatctatcaacag	6	7	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:35159783G>A	ENST00000156471.5	-	32	4021	c.3796C>T	c.(3796-3798)Caa>Taa	p.Q1266*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1266					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCATTCTGTTGACCTTGAAAT	0.343																																																	0													99	96	97					15																	35159783		1831	4082	5913	SO:0001587	stop_gained	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3796C>T	15.37:g.35159783G>A	ENSP00000156471:p.Gln1266*		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	NULL	p.Q1266*	ENST00000156471.5	37	c.3796	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	46	12.135656	0.99639	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.9439	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	1266	.	ENSP00000156471:Q1266X	Q	-	1	0	AQR	32947075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.509000	0.98002	2.941000	0.99782	0.655000	0.94253	CAA	AQR	-	NULL		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35159783	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	35159783	G	A	35159783	4	1	160	1	0	0	0	0	0	1	0	0	835	1299	45	1	677	1	AQR	15	35159783	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	803659	35159783	67371609	1572	29845										
THBS1	7057	genome.wustl.edu	37	chr15	39879667	39879667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atagcctcaacaaccgatgtGagggctcctcggtccagaca	10	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:39879667G>C	ENST00000260356.5	+	8	1405	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	414	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAACCGATGTGAGGGCTCCTC	0.572																																																	0													45	39	41					15																	39879667		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1240G>C	15.37:g.39879667G>C	ENSP00000260356:p.Glu414Gln		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.E414Q	ENST00000260356.5	37	c.1240	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950852	0.73787	.	.	ENSG00000137801	ENST00000260356	T	0.55588	0.51	5.26	5.26	0.73747	.	0.000000	0.36555	N	0.002532	T	0.49864	0.1582	L	0.43701	1.375	0.58432	D	0.999992	P	0.42123	0.771	B	0.42916	0.402	T	0.34229	-0.9837	10	0.21014	T	0.42	-45.4619	18.3745	0.90431	0.0:0.0:1.0:0.0	.	414	P07996	TSP1_HUMAN	Q	414	ENSP00000260356:E414Q	ENSP00000260356:E414Q	E	+	1	0	THBS1	37666959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.290000	0.72712	2.890000	0.99128	0.655000	0.94253	GAG	THBS1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.572	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	G	NM_003246		39879667	1	no_errors	ENST00000260356	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39879667	G	C	39879667	3	2	160	1	0	0	0	0	1	0	0	0	15883	1291	45	1	1266	1	THBS1	15	39879667	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4719884	39879667	62651725	1573	29846										
C15orf52	388115	genome.wustl.edu	37	chr15	40627575	40627575	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctcagcctggtgattgctCcaccccaggggctgctgctt	12	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:40627575C>G	ENST00000559313.1	-	11	1404	c.1389G>C	c.(1387-1389)tgG>tgC	p.W463C	C15orf52_ENST00000397536.2_Missense_Mutation_p.W253C	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	463							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GGTGATTGCTCCACCCCAGGG	0.657																																																	0													24	25	25					15																	40627575		2201	4298	6499	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1389G>C	15.37:g.40627575C>G	ENSP00000453969:p.Trp463Cys		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.W463C	ENST00000559313.1	37	c.1389	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175083	0.01646	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.3	-2.18	0.07037	.	1.236440	0.05862	N	0.623113	T	0.26810	0.0656	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.003	T	0.27191	-1.0081	9	0.36615	T	0.2	0.5254	3.5835	0.07962	0.2634:0.2409:0.4092:0.0865	.	253;463	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	C	463;253	.	ENSP00000372135:W463C	W	-	3	0	C15orf52	38414867	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.880000	0.04183	0.169000	0.19679	0.563000	0.77884	TGG	C15orf52	-	NULL		0.657	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	C	NM_207380		40627575	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.000	G	G	40627575	C	G	40627575	3	3	160	1	0	0	0	0	1	0	0	0	1804	856	30	1	219	1	C15orf52	15	40627575	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	747908	40627575	61903817	1574	29847										
C15orf52	388115	genome.wustl.edu	37	chr15	40627604	40627604	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggctgctgcttagagccctCtggccaagacacagggctct	13	13	2	2	rs201969716		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:40627604C>G	ENST00000559313.1	-	11	1375	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	C15orf52_ENST00000397536.2_Missense_Mutation_p.E244Q	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	454							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TTAGAGCCCTCTGGCCAAGAC	0.662																																																	0													17	18	18					15																	40627604		2202	4297	6499	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1360G>C	15.37:g.40627604C>G	ENSP00000453969:p.Glu454Gln		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.E454Q	ENST00000559313.1	37	c.1360	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938713	0.18206	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.3	1.25	0.21368	.	0.393157	0.21567	N	0.072476	T	0.12817	0.0311	N	0.14661	0.345	0.09310	N	1	P;B	0.41265	0.744;0.255	B;B	0.32864	0.154;0.109	T	0.14783	-1.0460	9	0.36615	T	0.2	-0.6799	6.6613	0.23016	0.0:0.5997:0.0:0.4003	.	244;454	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	Q	454;244	.	ENSP00000372135:E454Q	E	-	1	0	C15orf52	38414896	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.422000	0.21296	0.215000	0.20761	-0.251000	0.11542	GAG	C15orf52	-	NULL		0.662	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	C	NM_207380		40627604	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.000	G	G	40627604	C	G	40627604	3	3	160	1	0	0	0	0	1	0	0	0	1804	922	32	1	248	1	C15orf52	15	40627604	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	29	40627604	61903788	1575	29848										
CHST14	113189	genome.wustl.edu	37	chr15	40764143	40764143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggggctgagatagtgaggcGgtacagggctggagcggggc	22	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:40764143G>A	ENST00000306243.5	+	1	984	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	CHST14_ENST00000559991.1_Missense_Mutation_p.R219Q	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	244					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		ATAGTGAGGCGGTACAGGGCT	0.602																																																	0													80	95	90					15																	40764143		2203	4300	6503	SO:0001583	missense	113189			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.731G>A	15.37:g.40764143G>A	ENSP00000307297:p.Arg244Gln		Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R244Q	ENST00000306243.5	37	c.731	CCDS10059.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.434828	0.96150	.	.	ENSG00000169105	ENST00000306243	T	0.74737	-0.87	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	L	0.58810	1.83	0.58432	D	0.999999	D	0.63046	0.992	P	0.52109	0.69	T	0.79398	-0.1820	10	0.45353	T	0.12	-0.7211	17.0743	0.86582	0.0:0.0:1.0:0.0	.	244	Q8NCH0	CHSTE_HUMAN	Q	244	ENSP00000307297:R244Q	ENSP00000307297:R244Q	R	+	2	0	CHST14	38551435	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	6.602000	0.74141	2.610000	0.88304	0.655000	0.94253	CGG	CHST14	-	pfam_Sulfotransferase		0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	HGNC	protein_coding	OTTHUMT00000252251.1	G	NM_130468		40764143	1	no_errors	ENST00000306243	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40764143	G	A	40764143	3	1	160	1	0	0	0	0	1	0	0	0	3407	1116	39	2	733	2	CHST14	15	40764143	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	136539	40764143	61767249	1576	29849										
DNAJC17	55192	genome.wustl.edu	37	chr15	41071455	41071455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccttttctcatcaagtttCtgggtcctctctgctgcttg	7	12	4	0	rs571440654		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41071455C>A	ENST00000220496.4	-	4	291	c.261G>T	c.(259-261)caG>caT	p.Q87H		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	87					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATCAAGTTTCTGGGTCCTCT	0.507																																																	0													271	212	232					15																	41071455		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.261G>T	15.37:g.41071455C>A	ENSP00000220496:p.Gln87His			Missense_Mutation	SNP	pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q87H	ENST00000220496.4	37	c.261	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395707	0.42512	.	.	ENSG00000104129	ENST00000220496	T	0.18657	2.2	5.63	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.049341	0.85682	D	0.000000	T	0.21267	0.0512	L	0.57536	1.79	0.46849	D	0.99922	B	0.15141	0.012	B	0.17979	0.02	T	0.03231	-1.1058	10	0.51188	T	0.08	.	9.1148	0.36750	0.0:0.7685:0.0:0.2315	.	87	Q9NVM6	DJC17_HUMAN	H	87	ENSP00000220496:Q87H	ENSP00000220496:Q87H	Q	-	3	2	DNAJC17	38858747	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.725000	0.25970	0.753000	0.32945	-0.142000	0.14014	CAG	DNAJC17	-	NULL		0.507	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	C	NM_018163		41071455	-1	no_errors	ENST00000220496	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41071455	C	A	41071455	3	1	160	1	0	0	0	0	1	0	0	0	4646	912	32	3	685	3	DNAJC17	15	41071455	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	307312	41071455	61459937	1577	29850										
DNAJC17	55192	genome.wustl.edu	37	chr15	41071466	41071466	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaagtttctgggtcctctCtgctgcttgcttcttggctt	9	11	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41071466C>G	ENST00000220496.4	-	4	280	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	84					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGGTCCTCTCTGCTGCTTGC	0.517																																																	0													255	201	219					15																	41071466		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.250G>C	15.37:g.41071466C>G	ENSP00000220496:p.Glu84Gln			Missense_Mutation	SNP	pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E84Q	ENST00000220496.4	37	c.250	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288463	0.59976	.	.	ENSG00000104129	ENST00000220496	T	0.19105	2.17	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (2);	0.090781	0.85682	D	0.000000	T	0.24624	0.0597	L	0.61387	1.9	0.54753	D	0.999983	B	0.06786	0.001	B	0.14023	0.01	T	0.06144	-1.0843	10	0.16420	T	0.52	.	17.2117	0.86932	0.0:1.0:0.0:0.0	.	84	Q9NVM6	DJC17_HUMAN	Q	84	ENSP00000220496:E84Q	ENSP00000220496:E84Q	E	-	1	0	DNAJC17	38858758	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.805000	0.69143	2.603000	0.88011	0.650000	0.86243	GAG	DNAJC17	-	superfamily_DnaJ_N		0.517	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	C	NM_018163		41071466	-1	no_errors	ENST00000220496	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41071466	C	G	41071466	3	3	160	1	0	0	0	0	1	0	0	0	4646	922	32	1	696	1	DNAJC17	15	41071466	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11	41071466	61459926	1578	29851										
DLL4	54567	genome.wustl.edu	37	chr15	41222245	41222245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtattgggcaccaactccttCgctgtccgggacgacagtag	12	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41222245C>T	ENST00000249749.5	+	2	543	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	89					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCAACTCCTTCGCTGTCCGGG	0.657											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19	23	22					15																	41222245		1960	4126	6086	SO:0001819	synonymous_variant	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.267C>T	15.37:g.41222245C>T		899	Q3KP23|Q9NQT9	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.F89	ENST00000249749.5	37	c.267	CCDS45232.1	15																																																																																			DLL4	-	pfam_Notch_ligand_N,superfamily_Growth_fac_rcpt		0.657	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL4	HGNC	protein_coding	OTTHUMT00000418859.1	C			41222245	1	no_errors	ENST00000249749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	41222245	C	T	41222245	2	4	160	1	0	0	0	0	0	0	0	1	4578	883	31	1		1	DLL4	15	41222245	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	150779	41222245	61309147	1579	29852										
CHP	11261	genome.wustl.edu	37	chr15	41535869	41535870	+	Missense_Mutation	DNP	CC	CC	TT													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attttgtgctctttagtttcCcacagtcaaatcactcgcct							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41535869_41535870CC>TT	ENST00000334660.5	+	2	312_313	c.72_73CC>TT	c.(70-75)tcCCac>tcTTac	p.H25Y	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Missense_Mutation_p.H25Y	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	25					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										CTTTAGTTTCCCACAGTCAAAT	0.485																																																	0																																										SO:0001583	missense	11261				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"EF-hand domain containing"	17433	protein-coding gene	gene with protein product	"calcineurin homologous protein"	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	Exception_encountered	15.37:g.41535869_41535870delinsTT	ENSP00000335632:p.His25Tyr		B2R6H9|Q6FHZ9	Silent|Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S24|p.H25Y	ENST00000334660.5	37	c.72|c.73	CCDS10073.1	15																																																																																			CHP1	-	NULL		0.485	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP1	HGNC	protein_coding	OTTHUMT00000252554.2	C	NM_007236		41535869|41535870	1	no_errors	ENST00000334660	ensembl	human	known	70_37	silent|missense	SNP	0.999|1.000	T	TT	41535870	CC	TT	41535869	3	4	160	1	0	0	0	0	1	0	0	0	3371	610	22	4	78	4	CHP	15	41535869	Missense_Mutation	DNP	CC	TCGA-JW-A5VL-01A-11D-A28B-09	313624	41535869	60995523	1580	29853										
RPAP1	26015	genome.wustl.edu	37	chr15	41812658	41812658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagagggcaaggcgcaaggtGacactgaaccgacgctgcag	15	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41812658G>A	ENST00000304330.4	-	22	3842	c.3726C>T	c.(3724-3726)gtC>gtT	p.V1242V	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1242	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCGCAAGGTGACACTGAACC	0.597																																																	0													45	41	43					15																	41812658		2203	4300	6503	SO:0001819	synonymous_variant	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3726C>T	15.37:g.41812658G>A			Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.V1242	ENST00000304330.4	37	c.3726	CCDS10079.1	15																																																																																			RPAP1	-	NULL		0.597	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41812658	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	silent	SNP	0.998	A	A	41812658	G	A	41812658	2	1	160	1	0	0	0	0	0	0	0	1	13571	1277	45	1		1	RPAP1	15	41812658	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	276789	41812658	60718734	1581	29854										
MGA	23269	genome.wustl.edu	37	chr15	41988923	41988923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actcgacgattcaaaggattCagttggagactcactttcag	9	9	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:41988923C>T	ENST00000570161.1	+	2	1715	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	MGA_ENST00000389936.4_Missense_Mutation_p.S572L|MGA_ENST00000545763.1_Missense_Mutation_p.S572L|MGA_ENST00000219905.7_Missense_Mutation_p.S572L|MGA_ENST00000566586.1_Missense_Mutation_p.S572L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAAAGGATTCAGTTGGAGAC	0.403																																																	0													52	47	49					15																	41988923		1884	4114	5998	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1715C>T	15.37:g.41988923C>T	ENSP00000457035:p.Ser572Leu		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.S572L	ENST00000570161.1	37	c.1715	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	7.107	0.575277	0.13623	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84370	-1.8;-1.84;-1.82	5.44	2.08	0.27032	.	3.419210	0.00531	N	0.000213	T	0.77658	0.4163	N	0.19112	0.55	0.09310	N	1	B;B	0.30824	0.291;0.296	B;B	0.31337	0.128;0.06	T	0.66716	-0.5853	10	0.52906	T	0.07	.	7.2457	0.26121	0.1244:0.6461:0.0:0.2295	.	572;572	F5H7K2;E7ENI0	.;.	L	572	ENSP00000219905:S572L;ENSP00000374586:S572L;ENSP00000442467:S572L	ENSP00000219905:S572L	S	+	2	0	MGA	39776215	0.428000	0.25522	0.097000	0.21041	0.033000	0.12548	1.862000	0.39448	0.670000	0.31165	0.462000	0.41574	TCA	MGA	-	NULL		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41988923	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.002	T	T	41988923	C	T	41988923	3	4	160	1	0	0	0	0	1	0	0	0	9563	838	29	1	1721	1	MGA	15	41988923	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	176265	41988923	60542469	1582	29855										
SPTBN5	51332	genome.wustl.edu	37	chr15	42143328	42143328	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggctcccgtgaggtcaagGagggctatggaagctacttt	15	9	1	1	rs577090459	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:42143328G>T	ENST00000320955.6	-	65	10991	c.10764C>A	c.(10762-10764)ctC>ctA	p.L3588L	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGAGGTCAAGGAGGGCTATGG	0.617																																																	0													32	36	34					15																	42143328		2051	4192	6243	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10764C>A	15.37:g.42143328G>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L3588	ENST00000320955.6	37	c.10764		15																																																																																			SPTBN5	-	smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42143328	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.228	T	T	42143328	G	T	42143328	2	4	160	1	0	0	0	0	0	0	0	1	15152	1161	41	3		3	SPTBN5	15	42143328	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	154405	42143328	60388064	1583	29856										
GANC	2595	genome.wustl.edu	37	chr15	42632033	42632033	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgactcatccgagaagccatCagagagcgctatggcctcct	10	14	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:42632033C>T	ENST00000318010.8	+	17	2250	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	670					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GAGAAGCCATCAGAGAGCGCT	0.542																																																	0													64	50	55					15																	42632033		2203	4299	6502	SO:0001819	synonymous_variant	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2010C>T	15.37:g.42632033C>T			Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.I670	ENST00000318010.8	37	c.2010	CCDS10084.1	15																																																																																			GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	C	NM_198141		42632033	1	no_errors	ENST00000318010	ensembl	human	known	70_37	silent	SNP	0.993	T	T	42632033	C	T	42632033	2	4	160	1	0	0	0	0	0	0	0	1	6253	816	29	1		1	GANC	15	42632033	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	488705	42632033	59899359	1584	29857										
TTBK2	146057	genome.wustl.edu	37	chr15	43045109	43045109	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctaaaaggatgcttttctCttcagtttccccagggagat	8	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:43045109C>G	ENST00000267890.6	-	14	2443	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	779					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGCTTTTCTCTTCAGTTTCC	0.393																																																	0													168	153	158					15																	43045109		1846	4093	5939	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2335G>C	15.37:g.43045109C>G	ENSP00000267890:p.Glu779Gln		O94932|Q6ZN52|Q8IVV1	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.E779Q	ENST00000267890.6	37	c.2335	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757241	0.49468	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.43688	0.94	5.87	5.87	0.94306	.	0.292780	0.36665	N	0.002473	T	0.44030	0.1274	L	0.50333	1.59	0.80722	D	1	B;B	0.34103	0.437;0.11	B;B	0.36504	0.226;0.113	T	0.39981	-0.9587	10	0.66056	D	0.02	.	17.3741	0.87386	0.0:1.0:0.0:0.0	.	710;779	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	Q	779;709;1184	ENSP00000267890:E779Q	ENSP00000263802:E1184Q	E	-	1	0	TTBK2	40832401	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.845000	0.62853	2.785000	0.95823	0.655000	0.94253	GAG	TTBK2	-	NULL		0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	C	NM_173500		43045109	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43045109	C	G	43045109	3	3	160	1	0	0	0	0	1	0	0	0	16708	922	32	1	1407	1	TTBK2	15	43045109	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	413076	43045109	59486283	1585	29858										
TTBK2	146057	genome.wustl.edu	37	chr15	43069344	43069344	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaatatctctgtctggctGagtaatctctgagcggacac	11	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:43069344G>C	ENST00000267890.6	-	12	1402	c.1294C>G	c.(1294-1296)Cag>Gag	p.Q432E	TTBK2_ENST00000567840.1_Missense_Mutation_p.Q432E|TTBK2_ENST00000567274.1_Missense_Mutation_p.Q397E	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	432					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGTCTGGCTGAGTAATCTCT	0.502																																																	0													87	85	86					15																	43069344		1948	4148	6096	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1294C>G	15.37:g.43069344G>C	ENSP00000267890:p.Gln432Glu		O94932|Q6ZN52|Q8IVV1	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.Q432E	ENST00000267890.6	37	c.1294	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998478	0.54147	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39229	1.09	5.75	5.75	0.90469	.	0.356725	0.29444	N	0.012137	T	0.47525	0.1450	L	0.29908	0.895	0.43287	D	0.99526	B;P;B;P	0.48694	0.118;0.914;0.191;0.86	B;P;B;P	0.51582	0.007;0.674;0.095;0.474	T	0.44862	-0.9300	10	0.66056	D	0.02	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	837;363;432;432	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	E	432;362;837	ENSP00000267890:Q432E	ENSP00000263802:Q837E	Q	-	1	0	TTBK2	40856636	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.952000	0.75989	2.719000	0.93026	0.655000	0.94253	CAG	TTBK2	-	NULL		0.502	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	G	NM_173500		43069344	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43069344	G	C	43069344	3	2	160	1	0	0	0	0	1	0	0	0	16708	1299	45	1	2456	1	TTBK2	15	43069344	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	24235	43069344	59462048	1586	29859										
TGM5	9333	genome.wustl.edu	37	chr15	43533169	43533169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggtgatcacacgggtaggGatccccagacacctcatcac	10	13	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:43533169G>C	ENST00000220420.5	-	7	889	c.882C>G	c.(880-882)atC>atG	p.I294M	TGM5_ENST00000349114.4_Missense_Mutation_p.I212M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	294					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CACGGGTAGGGATCCCCAGAC	0.488																																																	0													139	124	129					15																	43533169		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.882C>G	15.37:g.43533169G>C	ENSP00000220420:p.Ile294Met		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I294M	ENST00000220420.5	37	c.882	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279641	0.59758	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68181	-0.31;-0.31	5.7	3.81	0.43845	Transglutaminase-like (2);	0.054776	0.64402	D	0.000001	T	0.81721	0.4882	M	0.85373	2.75	0.32840	D	0.505286	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.987	D	0.86350	0.1710	10	0.87932	D	0	-22.1227	10.973	0.47450	0.1432:0.0:0.8568:0.0	.	212;294	O43548-2;O43548	.;TGM5_HUMAN	M	294;212;293	ENSP00000220420:I294M;ENSP00000220419:I212M	ENSP00000220420:I294M	I	-	3	3	TGM5	41320461	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.374000	0.20501	0.743000	0.32719	0.655000	0.94253	ATC	TGM5	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.488	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	G	NM_004245		43533169	-1	no_errors	ENST00000220420	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43533169	G	C	43533169	3	2	160	1	0	0	0	0	1	0	0	0	15863	1164	41	1	1308	1	TGM5	15	43533169	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	463825	43533169	58998223	1587	29860										
MFAP1	4236	genome.wustl.edu	37	chr15	44097317	44097317	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagttttccgcttcttggcaGatggccgctcaaatacatct	8	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:44097317G>C	ENST00000267812.3	-	9	1527	c.1295C>G	c.(1294-1296)tCt>tGt	p.S432C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	432					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTTCTTGGCAGATGGCCGCTC	0.488																																																	0													131	127	128					15																	44097317		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1295C>G	15.37:g.44097317G>C	ENSP00000267812:p.Ser432Cys		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.S432C	ENST00000267812.3	37	c.1295	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727104	0.89390	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.29	5.29	0.74685	.	0.052899	0.64402	D	0.000001	D	0.83004	0.5160	M	0.81239	2.535	0.54753	D	0.999985	D	0.89917	1.0	D	0.72982	0.979	D	0.84908	0.0846	9	0.87932	D	0	-7.1084	18.7415	0.91774	0.0:0.0:1.0:0.0	.	432	P55081	MFAP1_HUMAN	C	432	.	ENSP00000267812:S432C	S	-	2	0	MFAP1	41884609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.227000	0.95236	2.764000	0.94973	0.650000	0.86243	TCT	MFAP1	-	pfam_MFAP1_C		0.488	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	G	NM_005926		44097317	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44097317	G	C	44097317	3	2	160	1	0	0	0	0	1	0	0	0	9536	942	33	1	28	1	MFAP1	15	44097317	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	564148	44097317	58434075	1588	29861										
DUOX2	50506	genome.wustl.edu	37	chr15	45404065	45404065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgctggtcggggtcgaacacGgggtctccaggtgggatgcg	19	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:45404065G>A	ENST00000603300.1	-	5	616	c.414C>T	c.(412-414)ccC>ccT	p.P138P	DUOX2_ENST00000389039.6_Silent_p.P138P|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	138	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.		P -> L (in dbSNP:rs2001616). {ECO:0000269|PubMed:11514595}.		adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTCGAACACGGGGTCTCCAG	0.687																																																	0																																										SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.414C>T	15.37:g.45404065G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.P138	ENST00000603300.1	37	c.414	CCDS10117.1	15																																																																																			DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.687	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		G	NM_014080		45404065	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	silent	SNP	0.003	A	A	45404065	G	A	45404065	2	1	160	1	0	0	0	0	0	0	0	1	4811	1103	39	2		2	DUOX2	15	45404065	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1306748	45404065	57127327	1589	29862										
SLC30A4	7782	genome.wustl.edu	37	chr15	45814223	45814223	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaatggtcaacctggctttCacctttctctgcttcagtat	7	12	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:45814223C>T	ENST00000261867.4	-	2	644	c.330G>A	c.(328-330)gtG>gtA	p.V110V	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	110					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ACCTGGCTTTCACCTTTCTCT	0.463																																																	0													207	174	185					15																	45814223		2198	4298	6496	SO:0001819	synonymous_variant	7782				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.330G>A	15.37:g.45814223C>T			Q8TC39	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V110	ENST00000261867.4	37	c.330	CCDS10125.1	15																																																																																			SLC30A4	-	NULL		0.463	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A4	HGNC	protein_coding	OTTHUMT00000254236.1	C			45814223	-1	no_errors	ENST00000261867	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45814223	C	T	45814223	2	4	160	1	0	0	0	0	0	0	0	1	14587	813	29	1		1	SLC30A4	15	45814223	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	410158	45814223	56717169	1590	29863										
CEP152	22995	genome.wustl.edu	37	chr15	49090193	49090193	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgaatactggagctctggaGaggagaggtcgtcatccagc	14	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:49090193G>A	ENST00000380950.2	-	3	330	c.143C>T	c.(142-144)tCt>tTt	p.S48F	CEP152_ENST00000399334.3_Missense_Mutation_p.S48F|CEP152_ENST00000325747.5_Missense_Mutation_p.S48F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	48					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GAGCTCTGGAGAGGAGAGGTC	0.453																																																	0													74	78	77					15																	49090193		2055	4193	6248	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.143C>T	15.37:g.49090193G>A	ENSP00000370337:p.Ser48Phe		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.S48F	ENST00000380950.2	37	c.143	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331323	0.81690	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.65916	1.95;-0.18;1.95	5.56	5.56	0.83823	.	0.107612	0.64402	D	0.000004	T	0.79730	0.4496	M	0.72894	2.215	0.36782	D	0.884403	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.98	T	0.82198	-0.0576	10	0.54805	T	0.06	-7.5519	19.8818	0.96901	0.0:0.0:1.0:0.0	.	48;48;48	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	F	48	ENSP00000370337:S48F;ENSP00000321000:S48F;ENSP00000382271:S48F	ENSP00000321000:S48F	S	-	2	0	CEP152	46877485	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	7.911000	0.87458	2.771000	0.95319	0.643000	0.83706	TCT	CEP152	-	NULL		0.453	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49090193	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49090193	G	A	49090193	3	1	160	1	0	0	0	0	1	0	0	0	3253	942	33	1	4917	1	CEP152	15	49090193	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3275970	49090193	53441199	1591	29864										
HDC	3067	genome.wustl.edu	37	chr15	50550607	50550607	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgttgctactcacccaggtGaatcccaagcagttgatggc	10	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:50550607G>A	ENST00000267845.3	-	3	714	c.312C>T	c.(310-312)ttC>ttT	p.F104F	HDC_ENST00000543581.1_Silent_p.F104F	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TCACCCAGGTGAATCCCAAGC	0.537																																					GBM(95;1627 1936 6910 9570)												0													85	72	76					15																	50550607		2196	4295	6491	SO:0001819	synonymous_variant	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.312C>T	15.37:g.50550607G>A				Silent	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.F104	ENST00000267845.3	37	c.312	CCDS10134.1	15																																																																																			HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC		0.537	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50550607	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50550607	G	A	50550607	2	1	160	1	0	0	0	0	0	0	0	1	7035	1281	45	1		1	HDC	15	50550607	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1460414	50550607	51980785	1592	29865										
USP50	373509	genome.wustl.edu	37	chr15	50833424	50833424	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctgcagcatctctgagtaGatcctttctcatatgatctt	6	11	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:50833424G>C	ENST00000532404.1	-	4	655	c.482C>G	c.(481-483)tCt>tGt	p.S161C	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	166	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTCTGAGTAGATCCTTTCTC	0.398																																																	0													111	106	108					15																	50833424		1918	4124	6042	SO:0001583	missense	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.482C>G	15.37:g.50833424G>C	ENSP00000434676:p.Ser161Cys		E9PP86	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S161C	ENST00000532404.1	37	c.482	CCDS53944.1	15	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096147	0.56075	.	.	ENSG00000170236	ENST00000532404	T	0.31510	1.49	5.44	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.689090	0.02470	N	0.087406	T	0.52693	0.1750	L	0.60012	1.86	0.09310	N	1	D	0.57571	0.98	P	0.59595	0.86	T	0.41556	-0.9502	10	0.62326	D	0.03	-9.766	11.8831	0.52586	0.0844:0.0:0.9156:0.0	.	166	Q70EL3	UBP50_HUMAN	C	161	ENSP00000434676:S161C	ENSP00000434676:S161C	S	-	2	0	USP50	48620716	0.211000	0.23529	0.005000	0.12908	0.004000	0.04260	2.780000	0.47742	2.530000	0.85305	0.555000	0.69702	TCT	USP50	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.398	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	HGNC	protein_coding	OTTHUMT00000395249.1	G			50833424	-1	no_errors	ENST00000532404	ensembl	human	known	70_37	missense	SNP	0.006	C	C	50833424	G	C	50833424	3	2	160	1	0	0	0	0	1	0	0	0	17113	942	33	1	538	1	USP50	15	50833424	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	282817	50833424	51697968	1593	29866										
GLDN	342035	genome.wustl.edu	37	chr15	51689762	51689762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagaagagccaaaggccctCggcagccaagcatgttcaac	11	13	1	2	rs375789151		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:51689762C>T	ENST00000335449.6	+	6	840	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	GLDN_ENST00000396399.2_Missense_Mutation_p.R138W	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	262	Pro-rich.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CAAAGGCCCTCGGCAGCCAAG	0.642																																																	0								C	TRP/ARG	0,4392		0,0,2196	32	42	38		784	4.2	1	15		38	1,8585	1.2+/-3.3	0,1,4292	no	missense	GLDN	NM_181789.2	101	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/552	51689762	1,12977	2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.784C>T	15.37:g.51689762C>T	ENSP00000335196:p.Arg262Trp		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.R262W	ENST00000335449.6	37	c.784	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358894	0.82353	0.0	1.16E-4	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.94376	-3.41;-3.41	5.17	4.25	0.50352	.	0.000000	0.38111	N	0.001819	D	0.94810	0.8324	M	0.83223	2.63	0.38221	D	0.940761	D	0.76494	0.999	P	0.56216	0.794	D	0.95049	0.8185	10	0.66056	D	0.02	.	7.4228	0.27081	0.1672:0.7487:0.0:0.0841	.	262	Q6ZMI3	GLDN_HUMAN	W	262;138;138	ENSP00000335196:R262W;ENSP00000379681:R138W	ENSP00000335196:R262W	R	+	1	2	GLDN	49477054	0.549000	0.26481	0.998000	0.56505	0.998000	0.95712	1.194000	0.32174	2.406000	0.81754	0.650000	0.86243	CGG	GLDN	-	NULL		0.642	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	C	NM_181789		51689762	1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	0.834	T	T	51689762	C	T	51689762	3	4	160	1	0	0	0	0	1	0	0	0	6453	875	31	1	806	1	GLDN	15	51689762	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	856338	51689762	50841630	1594	29867										
GNB5	10681	genome.wustl.edu	37	chr15	52472036	52472036	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctcggcctcgctcttcagcGacgccagcgtctcgttctcg	10	17	5	0	rs375782449		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:52472036G>T	ENST00000261837.7	-	3	232	c.167C>A	c.(166-168)tCg>tAg	p.S56*	GNB5_ENST00000560116.1_Nonsense_Mutation_p.S14*|GNB5_ENST00000396335.4_Nonsense_Mutation_p.S14*|RP11-430B1.2_ENST00000560518.1_lincRNA|GNB5_ENST00000358784.7_Nonsense_Mutation_p.S14*	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	56					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCTCTTCAGCGACGCCAGCGT	0.711																																																	0													22	17	19					15																	52472036		2191	4291	6482	SO:0001587	stop_gained	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.167C>A	15.37:g.52472036G>T	ENSP00000261837:p.Ser56*		B2RBR5|Q9HAU9|Q9UFT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.S56*	ENST00000261837.7	37	c.167	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	g	33	5.206719	0.95033	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	.	.	.	4.16	4.16	0.48862	.	0.583978	0.18677	N	0.134268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-2.9744	16.4176	0.83746	0.0:0.0:1.0:0.0	.	.	.	.	X	56;14;14	.	ENSP00000261837:S56X	S	-	2	0	GNB5	50259328	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	4.932000	0.63476	2.015000	0.59207	0.454000	0.30748	TCG	GNB5	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu		0.711	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	G			52472036	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	52472036	G	T	52472036	4	4	160	1	0	0	0	0	0	1	0	0	6540	1059	37	3	1064	3	GNB5	15	52472036	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	782274	52472036	50059356	1595	29868										
RFX7	64864	genome.wustl.edu	37	chr15	56387701	56387701	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtttgctgttccaaagctGaatcactgataacaagggca	9	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:56387701G>A	ENST00000559447.2	-	9	2205	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	RFX7_ENST00000317318.6_Missense_Mutation_p.S742L|RFX7_ENST00000422057.1_Missense_Mutation_p.S645L|RFX7_ENST00000423270.1_Missense_Mutation_p.S742L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	645					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCAAAGCTGAATCACTGAT	0.418																																																	0													100	90	93					15																	56387701		1914	4131	6045	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1934C>T	15.37:g.56387701G>A	ENSP00000453281:p.Ser645Leu		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S742L	ENST00000559447.2	37	c.2225		15	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834692	0.32421	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55234	0.53;0.53;0.53	5.47	3.61	0.41365	.	0.474495	0.17838	N	0.160313	T	0.34629	0.0904	N	0.14661	0.345	0.31556	N	0.658184	B;B	0.27559	0.0;0.181	B;B	0.21708	0.0;0.036	T	0.39231	-0.9624	10	0.66056	D	0.02	-0.3517	11.0694	0.47995	0.1492:0.0:0.8508:0.0	.	645;645	Q2KHR2;C9JU50	RFX7_HUMAN;.	L	645;742;742	ENSP00000387504:S645L;ENSP00000313299:S742L;ENSP00000397644:S742L	ENSP00000313299:S742L	S	-	2	0	RFX7	54174993	0.920000	0.31207	0.160000	0.22671	0.661000	0.39034	5.438000	0.66550	0.677000	0.31305	0.591000	0.81541	TCA	RFX7	-	NULL		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	G	NM_022841		56387701	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	missense	SNP	0.881	A	A	56387701	G	A	56387701	3	1	160	1	0	0	0	0	1	0	0	0	13298	1294	45	1	2161	1	RFX7	15	56387701	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3915665	56387701	46143691	1596	29869										
ZNF280D	54816	genome.wustl.edu	37	chr15	56996336	56996336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacttgaaattgctggttttGaacttgatatctcgccaaca	7	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:56996336G>A	ENST00000267807.7	-	4	374	c.158C>T	c.(157-159)tCa>tTa	p.S53L	ZNF280D_ENST00000559237.1_Missense_Mutation_p.S40L|ZNF280D_ENST00000558320.1_Missense_Mutation_p.S53L|ZNF280D_ENST00000559000.1_Missense_Mutation_p.S40L|ZNF280D_ENST00000396245.1_5'UTR	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGCTGGTTTTGAACTTGATAT	0.353																																																	0													145	122	130					15																	56996336		2192	4292	6484	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.158C>T	15.37:g.56996336G>A	ENSP00000267807:p.Ser53Leu		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S53L	ENST00000267807.7	37	c.158	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755470	0.69648	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.36340	1.26	4.52	4.52	0.55395	.	.	.	.	.	T	0.45236	0.1332	M	0.73598	2.24	0.80722	D	1	B;P;B	0.36712	0.089;0.566;0.255	B;B;B	0.39771	0.075;0.309;0.244	T	0.54675	-0.8258	9	0.72032	D	0.01	0.312	16.4057	0.83669	0.0:0.0:1.0:0.0	.	53;116;53	Q7Z6J5;B4DHL1;Q6N043	.;.;Z280D_HUMAN	L	53;40	ENSP00000267807:S53L	ENSP00000267807:S53L	S	-	2	0	ZNF280D	54783628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.521000	0.67086	2.333000	0.79357	0.650000	0.86243	TCA	ZNF280D	-	NULL		0.353	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	G	XM_370867		56996336	-1	no_errors	ENST00000267807	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56996336	G	A	56996336	3	1	160	1	0	0	0	0	1	0	0	0	17847	1294	45	1	2953	1	ZNF280D	15	56996336	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	608635	56996336	45535056	1597	29870										
MYO1E	4643	genome.wustl.edu	37	chr15	59553670	59553670	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaaaatatggcatctgcttGaaagggttgactgagattaa	10	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:59553670G>C	ENST00000288235.4	-	3	585	c.186C>G	c.(184-186)ttC>ttG	p.F62L	MYO1E_ENST00000558814.1_Intron	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	62	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCATCTGCTTGAAAGGGTTGA	0.333																																																	0													138	132	134					15																	59553670		2190	4290	6480	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.186C>G	15.37:g.59553670G>C	ENSP00000288235:p.Phe62Leu		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.F62L	ENST00000288235.4	37	c.186	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206299	0.79127	.	.	ENSG00000157483	ENST00000288235	D	0.88509	-2.39	5.93	4.07	0.47477	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94518	0.7724	10	0.87932	D	0	.	9.6578	0.39936	0.2095:0.0:0.7905:0.0	.	62	Q12965	MYO1E_HUMAN	L	62	ENSP00000288235:F62L	ENSP00000288235:F62L	F	-	3	2	MYO1E	57340962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.643000	0.61390	0.849000	0.35215	0.563000	0.77884	TTC	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.333	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59553670	-1	no_errors	ENST00000288235	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59553670	G	C	59553670	3	2	160	1	0	0	0	0	1	0	0	0	10095	1281	45	1	3244	1	MYO1E	15	59553670	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2557334	59553670	42977722	1598	29871										
GCNT3	9245	genome.wustl.edu	37	chr15	59910896	59910896	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaaggctactgcgagctgtGtatgcccctcagaacatata	10	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:59910896G>C	ENST00000396065.1	+	3	907	c.459G>C	c.(457-459)gtG>gtC	p.V153V	GCNT3_ENST00000560585.1_Silent_p.V153V	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	153					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCGAGCTGTGTATGCCCCTC	0.433																																																	0													110	111	111					15																	59910896		2190	4290	6480	SO:0001819	synonymous_variant	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.459G>C	15.37:g.59910896G>C				Silent	SNP	pfam_Glyco_trans_14	p.V153	ENST00000396065.1	37	c.459	CCDS10172.1	15																																																																																			GCNT3	-	pfam_Glyco_trans_14		0.433	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	G	NM_004751		59910896	1	no_errors	ENST00000396065	ensembl	human	known	70_37	silent	SNP	1.000	C	C	59910896	G	C	59910896	2	2	160	1	0	0	0	0	0	0	0	1	6321	1364	48	4		4	GCNT3	15	59910896	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	357226	59910896	42620496	1599	29872										
VPS13C	54832	genome.wustl.edu	37	chr15	62212712	62212712	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catacttttgctaaattgttGaaaacattaagacaactttt	4	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:62212712G>C	ENST00000261517.5	-	56	7270	c.7197C>G	c.(7195-7197)ttC>ttG	p.F2399L	VPS13C_ENST00000395898.3_Missense_Mutation_p.F2356L|VPS13C_ENST00000249837.3_Missense_Mutation_p.F2356L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2399L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAAATTGTTGAAAACATTAA	0.274																																																	0													54	56	55					15																	62212712		2202	4293	6495	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7197C>G	15.37:g.62212712G>C	ENSP00000261517:p.Phe2399Leu			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.F2399L	ENST00000261517.5	37	c.7197	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130202	0.08981	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.39406	1.08;1.08;1.08	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.39147	1.195	0.58432	D	0.999997	B;B;B;B	0.15930	0.007;0.015;0.015;0.009	B;B;B;B	0.19391	0.017;0.025;0.017;0.011	T	0.09552	-1.0669	10	0.02654	T	1	.	12.2601	0.54645	0.077:0.0:0.923:0.0	.	2356;2399;2356;2399	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2356;2399;2399;2399	ENSP00000249837:F2356L;ENSP00000261517:F2399L;ENSP00000379233:F2399L	ENSP00000249837:F2356L	F	-	3	2	VPS13C	60000004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.143000	0.50608	2.701000	0.92244	0.650000	0.86243	TTC	VPS13C	-	NULL		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62212712	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62212712	G	C	62212712	3	2	160	1	0	0	0	0	1	0	0	0	17222	1281	45	1	4212	1	VPS13C	15	62212712	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2301816	62212712	40318680	1600	29873										
FBXL22	283807	genome.wustl.edu	37	chr15	63893570	63893570	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actccgatcgccgttggaccGaaatcacctcggtggggagg	14	12	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63893570G>C	ENST00000360587.2	+	2	469	c.429G>C	c.(427-429)ccG>ccC	p.P143P	USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000539570.3_Silent_p.P137P|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561191.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	143					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						CCGTTGGACCGAAATCACCTC	0.711																																																	0													21	25	24					15																	63893570		2189	4260	6449	SO:0001819	synonymous_variant	283807			BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"F-boxes / Leucine-rich repeats"	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.429G>C	15.37:g.63893570G>C				Silent	SNP	superfamily_F-box_dom_cyclin-like	p.P143	ENST00000360587.2	37	c.429	CCDS10187.2	15																																																																																			FBXL22	-	NULL		0.711	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	FBXL22	Uniprot_genename	protein_coding	OTTHUMT00000256412.4	G	NM_203373		63893570	1	no_errors	ENST00000539570	ensembl	human	known	70_37	silent	SNP	0.000	C	C	63893570	G	C	63893570	2	2	160	1	0	0	0	0	0	0	0	1	5737	1045	37	1		1	FBXL22	15	63893570	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1680858	63893570	38637822	1601	29874										
HERC1	8925	genome.wustl.edu	37	chr15	63932560	63932560	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggagggttacacaacagctGatccagatgaagtcccacag	11	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63932560G>A	ENST00000443617.2	-	61	11779	c.11692C>T	c.(11692-11694)Cag>Tag	p.Q3898*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3898					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACAACAGCTGATCCAGATGA	0.483																																																	0													107	107	107					15																	63932560		2089	4233	6322	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11692C>T	15.37:g.63932560G>A	ENSP00000390158:p.Gln3898*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q3898*	ENST00000443617.2	37	c.11692	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	53	20.458144	0.99931	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.72	5.72	0.89469	.	0.150554	0.45361	D	0.000367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	3898	.	ENSP00000390158:Q3898X	Q	-	1	0	HERC1	61719613	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.481000	0.66826	2.711000	0.92665	0.655000	0.94253	CAG	HERC1	-	NULL		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63932560	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	63932560	G	A	63932560	4	1	160	1	0	0	0	0	0	1	0	0	7077	1299	45	1	2965	1	HERC1	15	63932560	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	38990	63932560	38598832	1602	29875										
HERC1	8925	genome.wustl.edu	37	chr15	63946435	63946435	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgcagcaagagtgcgcacGagttgctgagctgcccattg	14	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63946435G>A	ENST00000443617.2	-	51	10260	c.10173C>T	c.(10171-10173)ctC>ctT	p.L3391L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3391					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGTGCGCACGAGTTGCTGAG	0.542																																																	0													90	87	88					15																	63946435		2050	4207	6257	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10173C>T	15.37:g.63946435G>A			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L3391	ENST00000443617.2	37	c.10173	CCDS45277.1	15																																																																																			HERC1	-	NULL		0.542	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63946435	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	silent	SNP	0.953	A	A	63946435	G	A	63946435	2	1	160	1	0	0	0	0	0	0	0	1	7077	1045	37	1		1	HERC1	15	63946435	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	13875	63946435	38584957	1603	29876										
HERC1	8925	genome.wustl.edu	37	chr15	63970083	63970083	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catcccattggaccttggcaGacgtgctgccctctttgacc	9	15	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63970083G>A	ENST00000443617.2	-	37	7118	c.7031C>T	c.(7030-7032)tCt>tTt	p.S2344F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2344					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACCTTGGCAGACGTGCTGCC	0.478																																																	0													177	181	179					15																	63970083		2107	4238	6345	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7031C>T	15.37:g.63970083G>A	ENSP00000390158:p.Ser2344Phe		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S2344F	ENST00000443617.2	37	c.7031	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925950	0.73327	.	.	ENSG00000103657	ENST00000443617	T	0.26957	1.7	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.47716	1.5	0.58432	D	0.999999	P	0.50943	0.94	P	0.46850	0.529	T	0.02852	-1.1102	10	0.59425	D	0.04	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	2344	Q15751	HERC1_HUMAN	F	2344	ENSP00000390158:S2344F	ENSP00000390158:S2344F	S	-	2	0	HERC1	61757136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.720000	0.68470	2.745000	0.94114	0.655000	0.94253	TCT	HERC1	-	NULL		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63970083	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63970083	G	A	63970083	3	1	160	1	0	0	0	0	1	0	0	0	7077	942	33	1	7722	1	HERC1	15	63970083	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	23648	63970083	38561309	1604	29877										
HERC1	8925	genome.wustl.edu	37	chr15	63970165	63970165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaccgacctccaactctaaGaccagcatcaactcctccta	3	18	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:63970165G>C	ENST00000443617.2	-	37	7036	c.6949C>G	c.(6949-6951)Ctt>Gtt	p.L2317V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2317					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCAACTCTAAGACCAGCATCA	0.577																																																	0													130	134	133					15																	63970165		2129	4241	6370	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6949C>G	15.37:g.63970165G>C	ENSP00000390158:p.Leu2317Val		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L2317V	ENST00000443617.2	37	c.6949	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834056	0.71373	.	.	ENSG00000103657	ENST00000443617	T	0.31769	1.48	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000008	T	0.49218	0.1544	L	0.55481	1.735	0.54753	D	0.999985	D	0.63880	0.993	D	0.70016	0.967	T	0.46414	-0.9193	10	0.72032	D	0.01	.	12.8878	0.58053	0.0743:0.0:0.9257:0.0	.	2317	Q15751	HERC1_HUMAN	V	2317	ENSP00000390158:L2317V	ENSP00000390158:L2317V	L	-	1	0	HERC1	61757218	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.795000	0.75140	2.635000	0.89317	0.655000	0.94253	CTT	HERC1	-	NULL		0.577	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63970165	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	C	C	63970165	G	C	63970165	3	2	160	1	0	0	0	0	1	0	0	0	7077	942	33	1	7804	1	HERC1	15	63970165	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	82	63970165	38561227	1605	29878										
ZNF609	23060	genome.wustl.edu	37	chr15	64973556	64973556	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaacaaggctcaactccctCactctacccaccccccagga	4	21	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:64973556C>G	ENST00000326648.3	+	8	4339	c.4211C>G	c.(4210-4212)tCa>tGa	p.S1404*		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1404						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAACTCCCTCACTCTACCCA	0.473											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													183	180	181					15																	64973556		2202	4299	6501	SO:0001587	stop_gained	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4211C>G	15.37:g.64973556C>G	ENSP00000316527:p.Ser1404*	1080	Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.S1404*	ENST00000326648.3	37	c.4211	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	43	9.879425	0.99286	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.40796	D	0.983297	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-6.2009	19.2581	0.93955	0.0:1.0:0.0:0.0	.	.	.	.	X	1404	.	ENSP00000316527:S1404X	S	+	2	0	ZNF609	62760609	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	6.902000	0.75699	2.547000	0.85894	0.655000	0.94253	TCA	ZNF609	-	NULL		0.473	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	C	XM_042833		64973556	1	no_errors	ENST00000326648	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	64973556	C	G	64973556	4	3	160	1	0	0	0	0	0	1	0	0	18065	838	29	1	4241	1	ZNF609	15	64973556	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1003391	64973556	37557836	1606	29879										
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157665	65157665	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggcatggatgacagtcctGagcctgccaagccctctcag	11	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65157665G>C	ENST00000323544.4	+	6	1179	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	351	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGACAGTCCTGAGCCTGCCAA	0.587																																																	0													68	68	68					15																	65157665		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1051G>C	15.37:g.65157665G>C	ENSP00000326706:p.Glu351Gln		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E351Q	ENST00000323544.4	37	c.1051	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885099	0.17540	.	.	ENSG00000241839	ENST00000323544	T	0.32272	1.46	5.42	3.51	0.40186	.	0.422191	0.24851	N	0.035088	T	0.20210	0.0486	L	0.29908	0.895	0.09310	N	1	B;B	0.30937	0.301;0.118	B;B	0.24974	0.057;0.026	T	0.17107	-1.0380	10	0.62326	D	0.03	.	9.0174	0.36179	0.0791:0.1462:0.7747:0.0	.	301;351	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	351	ENSP00000326706:E351Q	ENSP00000326706:E351Q	E	+	1	0	PLEKHO2	62944718	0.906000	0.30813	0.029000	0.17559	0.067000	0.16453	2.347000	0.44036	1.260000	0.44134	-0.175000	0.13238	GAG	PLEKHO2	-	NULL		0.587	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157665	1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.068	C	C	65157665	G	C	65157665	3	2	160	1	0	0	0	0	1	0	0	0	12109	1291	45	1	1073	1	PLEKHO2	15	65157665	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	184109	65157665	37373727	1607	29880										
CILP	8483	genome.wustl.edu	37	chr15	65490682	65490682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagggggaaagtgtctccttCgtcattgatgaagttcaggt	13	6	3	2	rs147805917	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65490682C>G	ENST00000261883.4	-	9	2108	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	648					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGTCTCCTTCGTCATTGATG	0.517																																																	0													162	153	156					15																	65490682		2202	4299	6501	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1942G>C	15.37:g.65490682C>G	ENSP00000261883:p.Glu648Gln		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E648Q	ENST00000261883.4	37	c.1942	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951597	0.34471	.	.	ENSG00000138615	ENST00000261883	T	0.46063	0.88	5.5	5.5	0.81552	.	0.140813	0.64402	D	0.000006	T	0.41719	0.1171	L	0.47016	1.485	0.58432	D	0.999991	B	0.27997	0.197	B	0.28553	0.091	T	0.30327	-0.9982	10	0.54805	T	0.06	-23.3175	18.4132	0.90559	0.0:1.0:0.0:0.0	.	648	O75339	CILP1_HUMAN	Q	648	ENSP00000261883:E648Q	ENSP00000261883:E648Q	E	-	1	0	CILP	63277735	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	6.039000	0.70972	2.584000	0.87258	0.563000	0.77884	GAA	CILP	-	NULL		0.517	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	C	NM_003613		65490682	-1	no_errors	ENST00000261883	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65490682	C	G	65490682	3	3	160	1	0	0	0	0	1	0	0	0	3434	893	31	1	1616	1	CILP	15	65490682	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	333017	65490682	37040710	1608	29881										
DPP8	54878	genome.wustl.edu	37	chr15	65743356	65743356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctgtaaatcatatggctttCcagccctcactaaaaaactc	4	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65743356C>G	ENST00000341861.5	-	19	4135	c.2555G>C	c.(2554-2556)gGa>gCa	p.G852A	DPP8_ENST00000321118.7_Missense_Mutation_p.G803A|DPP8_ENST00000358939.4_Missense_Mutation_p.G736A|DPP8_ENST00000559233.1_Missense_Mutation_p.G852A|DPP8_ENST00000321147.6_Missense_Mutation_p.G801A|DPP8_ENST00000300141.6_Missense_Mutation_p.G836A|DPP8_ENST00000339244.5_Missense_Mutation_p.G679A|DPP8_ENST00000560048.2_5'UTR	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	852					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATATGGCTTTCCAGCCCTCAC	0.368																																																	0													114	122	119					15																	65743356		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2555G>C	15.37:g.65743356C>G	ENSP00000339208:p.Gly852Ala		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.G852A	ENST00000341861.5	37	c.2555	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719002	0.68844	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.71978	0.3404	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.76494	0.985;0.985;0.999;0.985;0.988	D;D;D;P;D	0.87578	0.918;0.918;0.998;0.891;0.951	T	0.70788	-0.4777	10	0.38643	T	0.18	-19.9074	18.0007	0.89197	0.0:1.0:0.0:0.0	.	803;836;736;801;852	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	A	852;736;836;801;803;679	ENSP00000339208:G852A;ENSP00000351817:G736A;ENSP00000300141:G836A;ENSP00000318111:G801A;ENSP00000316373:G803A;ENSP00000341230:G679A	ENSP00000300141:G836A	G	-	2	0	DPP8	63530409	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.812000	0.86109	2.481000	0.83766	0.650000	0.86243	GGA	DPP8	-	pfam_Peptidase_S9		0.368	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	C	NM_017743		65743356	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65743356	C	G	65743356	3	3	160	1	0	0	0	0	1	0	0	0	4742	855	30	1	149	1	DPP8	15	65743356	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	252674	65743356	36788036	1609	29882										
DENND4A	10260	genome.wustl.edu	37	chr15	65994801	65994801	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagacacctagaccacatctGagggatggaagagtacctct	10	10	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:65994801G>C	ENST00000431932.2	-	17	2480	c.2272C>G	c.(2272-2274)Cag>Gag	p.Q758E	DENND4A_ENST00000443035.3_Missense_Mutation_p.Q758E	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	758					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACCACATCTGAGGGATGGAA	0.383																																																	0													78	70	72					15																	65994801		1844	4099	5943	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2272C>G	15.37:g.65994801G>C	ENSP00000396830:p.Gln758Glu		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.Q758E	ENST00000431932.2	37	c.2272	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597091	0.28445	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04654	3.59;3.58	5.78	5.78	0.91487	.	0.265301	0.45606	D	0.000357	T	0.08492	0.0211	N	0.11651	0.15	0.80722	D	1	D;D	0.71674	0.998;0.986	D;D	0.75484	0.986;0.965	T	0.31194	-0.9952	10	0.02654	T	1	.	19.9918	0.97368	0.0:0.0:1.0:0.0	.	758;758	E7EPL3;Q7Z401	.;MYCPP_HUMAN	E	758	ENSP00000391167:Q758E;ENSP00000396830:Q758E	ENSP00000396830:Q758E	Q	-	1	0	DENND4A	63781855	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.863000	0.87023	2.728000	0.93425	0.585000	0.79938	CAG	DENND4A	-	NULL		0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	G	NM_005848		65994801	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65994801	G	C	65994801	3	2	160	1	0	0	0	0	1	0	0	0	4443	1299	45	1	3516	1	DENND4A	15	65994801	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	251445	65994801	36536591	1610	29883										
UACA	55075	genome.wustl.edu	37	chr15	70960244	70960244	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctcatctttgcctcgtgctCtgccaggctgatgtactcag	10	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:70960244C>G	ENST00000322954.6	-	16	2964	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	UACA_ENST00000539319.1_Missense_Mutation_p.E818Q|UACA_ENST00000560441.1_Missense_Mutation_p.E912Q|UACA_ENST00000379983.2_Missense_Mutation_p.E914Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	927					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCCTCGTGCTCTGCCAGGCTG	0.383																																																	0													90	83	85					15																	70960244		2199	4298	6497	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2779G>C	15.37:g.70960244C>G	ENSP00000314556:p.Glu927Gln		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.E927Q	ENST00000322954.6	37	c.2779	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077804	0.55753	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.79141	-1.24;-1.24;-1.24	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000006	D	0.87842	0.6279	M	0.72118	2.19	0.58432	D	0.999996	D;D;D;D	0.89917	0.995;0.996;0.998;1.0	D;D;D;D	0.76575	0.928;0.913;0.913;0.988	D	0.86007	0.1498	10	0.41790	T	0.15	-28.0769	20.0965	0.97849	0.0:1.0:0.0:0.0	.	818;927;927;914	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	Q	927;914;818	ENSP00000314556:E927Q;ENSP00000369319:E914Q;ENSP00000438667:E818Q	ENSP00000314556:E927Q	E	-	1	0	UACA	68747298	1.000000	0.71417	0.718000	0.30602	0.371000	0.29859	7.354000	0.79424	2.824000	0.97209	0.655000	0.94253	GAG	UACA	-	NULL		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70960244	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70960244	C	G	70960244	3	3	160	1	0	0	0	0	1	0	0	0	16855	922	32	1	1487	1	UACA	15	70960244	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4965443	70960244	31571148	1611	29884										
UACA	55075	genome.wustl.edu	37	chr15	70961397	70961397	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagtctttcaactgatccttCagttcctcggttagtctgtg	8	10	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:70961397C>T	ENST00000322954.6	-	16	1811	c.1626G>A	c.(1624-1626)ctG>ctA	p.L542L	UACA_ENST00000539319.1_Silent_p.L433L|UACA_ENST00000560441.1_Silent_p.L527L|UACA_ENST00000379983.2_Silent_p.L529L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	542					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGATCCTTCAGTTCCTCGG	0.383																																																	0													178	169	172					15																	70961397		2199	4297	6496	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1626G>A	15.37:g.70961397C>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L542	ENST00000322954.6	37	c.1626	CCDS10235.1	15																																																																																			UACA	-	NULL		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70961397	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	0.996	T	T	70961397	C	T	70961397	2	4	160	1	0	0	0	0	0	0	0	1	16855	813	29	1		1	UACA	15	70961397	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1153	70961397	31569995	1612	29885										
MYO9A	4649	genome.wustl.edu	37	chr15	72313282	72313282	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgagataatgatattcctCtggttgcttaagatggaatg	10	4	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:72313282C>G	ENST00000356056.5	-	5	1547	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E359Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E359Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.E359Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	359	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATATTCCTCTGGTTGCTTA	0.353																																																	0													120	111	114					15																	72313282		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1075G>C	15.37:g.72313282C>G	ENSP00000348349:p.Glu359Gln		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E359Q	ENST00000356056.5	37	c.1075	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820427	0.90873	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.73047	-0.71;-0.71;-0.71	5.85	5.85	0.93711	Myosin head, motor domain (2);	.	.	.	.	T	0.66906	0.2837	L	0.35288	1.05	0.80722	D	1	B;B;B	0.21520	0.001;0.057;0.051	B;B;B	0.32149	0.014;0.06;0.141	T	0.59894	-0.7368	9	0.33940	T	0.23	.	19.76	0.96311	0.0:1.0:0.0:0.0	.	359;359;359	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	359	ENSP00000348349:E359Q;ENSP00000399162:E359Q;ENSP00000398250:E359Q	ENSP00000261864:E359Q	E	-	1	0	MYO9A	70100336	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.387000	0.66243	2.753000	0.94483	0.655000	0.94253	GAG	MYO9A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.353	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72313282	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72313282	C	G	72313282	3	3	160	1	0	0	0	0	1	0	0	0	10107	922	32	1	6723	1	MYO9A	15	72313282	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1351885	72313282	30218110	1613	29886										
PML	5371	genome.wustl.edu	37	chr15	74328176	74328176	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actctgtcagaggctccatgGaggcctctcaagtccaagtg	11	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:74328176G>A	ENST00000268058.3	+	7	1806				PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.E744K|PML_ENST00000268059.6_Missense_Mutation_p.E792K|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000565898.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGGCTCCATGGAGGCCTCTCA	0.622			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													60	74	69					15																	74328176		2198	4296	6494	SO:0001627	intron_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1305G>A	15.37:g.74328176G>A			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E792K	ENST00000268058.3	37	c.2374	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489858	0.26686	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.43	1.52	0.23074	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.19666	0.026;0.026	T	0.21109	-1.0255	8	0.87932	D	0	.	4.7751	0.13175	0.1225:0.223:0.6545:0.0	.	744;792	P29590-13;P29590-8	.;.	K	792;744	.	ENSP00000268059:E792K	E	+	1	0	PML	72115229	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.392000	0.20801	0.441000	0.26529	-0.502000	0.04539	GAG	PML	-	NULL		0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74328176	1	no_errors	ENST00000268059	ensembl	human	known	70_37	missense	SNP	0.004	A	A	74328176	G	A	74328176	1	1	160	0	1	0	0	0	0	0	0	0	12159	1175	41	1		1	PML	15	74328176	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2014894	74328176	28203216	1614	29887										
ARID3B	10620	genome.wustl.edu	37	chr15	74888066	74888066	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgttcaccaagtcctacctCatcccggggcacccccagcg	8	19	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:74888066C>T	ENST00000346246.5	+	9	1865	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	546	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGTCCTACCTCATCCCGGGGC	0.642																																																	0													40	43	42					15																	74888066		2197	4292	6489	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1634C>T	15.37:g.74888066C>T	ENSP00000343126:p.Ser545Leu		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S545L	ENST00000346246.5	37	c.1634	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532764	0.85812	.	.	ENSG00000179361	ENST00000346246	T	0.57752	0.38	4.4	4.4	0.53042	.	0.096998	0.45867	D	0.000326	T	0.59074	0.2167	N	0.19112	0.55	0.48135	D	0.99959	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	T	0.63180	-0.6695	10	0.48119	T	0.1	-11.754	17.5479	0.87867	0.0:1.0:0.0:0.0	.	546;545	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	L	545	ENSP00000343126:S545L	ENSP00000343126:S545L	S	+	2	0	ARID3B	72675119	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	5.022000	0.64078	2.446000	0.82766	0.462000	0.41574	TCA	ARID3B	-	NULL		0.642	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	C	NM_006465		74888066	1	no_errors	ENST00000346246	ensembl	human	known	70_37	missense	SNP	0.995	T	T	74888066	C	T	74888066	3	4	160	1	0	0	0	0	1	0	0	0	917	838	29	1	1664	1	ARID3B	15	74888066	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	559890	74888066	27643326	1615	29888										
NEIL1	79661	genome.wustl.edu	37	chr15	75641330	75641330	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgttcggcggctgcgtggaGaagtcctctgtcagccgcaa	15	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:75641330G>A	ENST00000564784.1	+	3	713	c.84G>A	c.(82-84)gaG>gaA	p.E28E	NEIL1_ENST00000355059.4_Silent_p.E28E|NEIL1_ENST00000569035.1_Silent_p.E28E|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	28					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCTGCGTGGAGAAGTCCTCTG	0.652								Base excision repair (BER), DNA glycosylases																																									0													41	39	40					15																	75641330		2197	4294	6491	SO:0001819	synonymous_variant	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.84G>A	15.37:g.75641330G>A			D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.E28	ENST00000564784.1	37	c.84	CCDS10278.1	15																																																																																			NEIL1	-	pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat		0.652	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	G	NM_024608		75641330	1	no_errors	ENST00000355059	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75641330	G	A	75641330	2	1	160	1	0	0	0	0	0	0	0	1	10342	933	33	1		1	NEIL1	15	75641330	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	753264	75641330	26890062	1616	29889										
CSPG4	1464	genome.wustl.edu	37	chr15	75982032	75982032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcgcagctcagcctccatCaggtccagcgtgggctgcac	12	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:75982032C>T	ENST00000308508.5	-	3	1466	c.1374G>A	c.(1372-1374)ctG>ctA	p.L458L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	458	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCTCCATCAGGTCCAGCG	0.647																																																	0													57	56	56					15																	75982032		2197	4290	6487	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1374G>A	15.37:g.75982032C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.L458	ENST00000308508.5	37	c.1374	CCDS10284.1	15																																																																																			CSPG4	-	NULL		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	C	NM_001897		75982032	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	silent	SNP	0.605	T	T	75982032	C	T	75982032	2	4	160	1	0	0	0	0	0	0	0	1	3965	813	29	1		1	CSPG4	15	75982032	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	340702	75982032	26549360	1617	29890										
MORF4L1	10933	genome.wustl.edu	37	chr15	79187165	79187165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctcttgtttaaacagtacGaattggagcaatgttggctt	9	6	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:79187165G>A	ENST00000331268.5	+	12	1127	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	MORF4L1_ENST00000558502.1_Missense_Mutation_p.R181Q|MORF4L1_ENST00000426013.2_Missense_Mutation_p.R269Q|MORF4L1_ENST00000558746.1_Missense_Mutation_p.R242Q|MORF4L1_ENST00000379535.4_Missense_Mutation_p.R294Q|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000559345.1_Missense_Mutation_p.R181Q	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	308	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.R308Q(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TAAACAGTACGAATTGGAGCA	0.368																																																	1	Substitution - Missense(1)	lung(1)											132	120	124					15																	79187165		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.923G>A	15.37:g.79187165G>A	ENSP00000331310:p.Arg308Gln		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.R308Q	ENST00000331268.5	37	c.923	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542042	0.65198	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.09445	2.98;2.98;2.98	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.58583	1.82	0.80722	D	1	B;B	0.21606	0.058;0.057	B;B	0.19391	0.009;0.025	T	0.02668	-1.1126	10	0.37606	T	0.19	-21.0717	17.1926	0.86883	0.0:0.0:1.0:0.0	.	269;308	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	Q	294;269;308	ENSP00000368850:R294Q;ENSP00000408880:R269Q;ENSP00000331310:R308Q	ENSP00000331310:R308Q	R	+	2	0	MORF4L1	76974220	1.000000	0.71417	0.995000	0.50966	0.731000	0.41821	9.108000	0.94275	2.478000	0.83669	0.650000	0.86243	CGA	MORF4L1	-	pfam_MRG_dom,pirsf_EAF3/MRG15		0.368	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79187165	1	no_errors	ENST00000331268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79187165	G	A	79187165	3	1	160	1	0	0	0	0	1	0	0	0	9729	1058	37	1	969	1	MORF4L1	15	79187165	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3205133	79187165	23344227	1618	29891										
MESDC1	59274	genome.wustl.edu	37	chr15	81295598	81295598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagggagaggctgaggaactCggcctgcgccgtgtctgaag	17	10	1	3	rs369279695		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:81295598C>T	ENST00000267984.2	+	1	2304	c.986C>T	c.(985-987)tCg>tTg	p.S329L		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	329										endometrium(1)|lung(2)	3						CTGAGGAACTCGGCCTGCGCC	0.617																																																	0								C	LEU/SER	1,4399		0,1,2199	14	18	17		986	3.9	1	15		17	0,8594		0,0,4297	no	missense	MESDC1	NM_022566.2	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	329/363	81295598	1,12993	2200	4297	6497	SO:0001583	missense	59274			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.986C>T	15.37:g.81295598C>T	ENSP00000267984:p.Ser329Leu			Missense_Mutation	SNP	NULL	p.S329L	ENST00000267984.2	37	c.986	CCDS10316.1	15	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492467	0.64074	2.27E-4	0.0	ENSG00000140406	ENST00000267984	.	.	.	4.86	3.93	0.45458	.	0.000000	0.64402	U	0.000003	T	0.37679	0.1012	L	0.32530	0.975	0.58432	D	0.999995	P	0.51351	0.944	B	0.39185	0.293	T	0.12682	-1.0538	9	0.13470	T	0.59	-9.0879	14.301	0.66352	0.15:0.85:0.0:0.0	.	329	Q9H1K6	MESD1_HUMAN	L	329	.	ENSP00000267984:S329L	S	+	2	0	MESDC1	79082653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.301000	0.78850	0.996000	0.38943	0.549000	0.68633	TCG	MESDC1	-	NULL		0.617	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC1	HGNC	protein_coding	OTTHUMT00000291390.1	C	NM_022566		81295598	1	no_errors	ENST00000267984	ensembl	human	known	70_37	missense	SNP	1.000	T	T	81295598	C	T	81295598	3	4	160	1	0	0	0	0	1	0	0	0	9503	893	31	1	988	1	MESDC1	15	81295598	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2108433	81295598	21235794	1619	29892										
STARD5	80765	genome.wustl.edu	37	chr15	81605714	81605714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgctgaggtcggtatggaaGaatgtgaccaggttggtctt	15	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:81605714G>C	ENST00000302824.6	-	6	550	c.525C>G	c.(523-525)ttC>ttG	p.F175L		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	175	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGGTATGGAAGAATGTGACCA	0.567																																																	0													188	160	170					15																	81605714		2203	4300	6503	SO:0001583	missense	80765			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.525C>G	15.37:g.81605714G>C	ENSP00000304032:p.Phe175Leu		P59094	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.F175L	ENST00000302824.6	37	c.525	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223447	0.58668	.	.	ENSG00000172345	ENST00000302824	T	0.75821	-0.97	5.07	4.15	0.48705	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.81872	-0.0733	10	0.02654	T	1	-4.8135	13.8255	0.63348	0.0745:0.0:0.9255:0.0	.	175	Q9NSY2	STAR5_HUMAN	L	175	ENSP00000304032:F175L	ENSP00000304032:F175L	F	-	3	2	STARD5	79392769	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	4.457000	0.60088	1.262000	0.44165	-0.258000	0.10820	TTC	STARD5	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.567	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	HGNC	protein_coding	OTTHUMT00000303950.2	G			81605714	-1	no_errors	ENST00000302824	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81605714	G	C	81605714	3	2	160	1	0	0	0	0	1	0	0	0	15290	933	33	1	120	1	STARD5	15	81605714	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	310116	81605714	20925678	1620	29893										
STARD5	80765	genome.wustl.edu	37	chr15	81611704	81611704	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaactgatggtcccatcctCatatctcttgactagcacca	7	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:81611704C>T	ENST00000302824.6	-	4	401	c.376G>A	c.(376-378)Gag>Aag	p.E126K	STARD5_ENST00000559913.1_5'Flank	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	126	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GTCCCATCCTCATATCTCTTG	0.527																																																	0													239	236	237					15																	81611704		2203	4300	6503	SO:0001583	missense	80765			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.376G>A	15.37:g.81611704C>T	ENSP00000304032:p.Glu126Lys		P59094	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E126K	ENST00000302824.6	37	c.376	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255332	0.59321	.	.	ENSG00000172345	ENST00000302824	D	0.84589	-1.87	5.14	3.24	0.37175	Lipid-binding START (3);START-like domain (1);	0.187147	0.45606	D	0.000345	T	0.81697	0.4877	M	0.71036	2.16	0.58432	D	0.99999	B	0.27498	0.18	B	0.23419	0.046	T	0.77250	-0.2657	10	0.29301	T	0.29	-5.4238	10.7051	0.45950	0.0:0.838:0.0:0.162	.	126	Q9NSY2	STAR5_HUMAN	K	126	ENSP00000304032:E126K	ENSP00000304032:E126K	E	-	1	0	STARD5	79398759	0.997000	0.39634	0.786000	0.31890	0.836000	0.47400	3.987000	0.56944	1.155000	0.42497	0.491000	0.48974	GAG	STARD5	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.527	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	HGNC	protein_coding	OTTHUMT00000303950.2	C			81611704	-1	no_errors	ENST00000302824	ensembl	human	known	70_37	missense	SNP	0.976	T	T	81611704	C	T	81611704	3	4	160	1	0	0	0	0	1	0	0	0	15290	835	29	1	277	1	STARD5	15	81611704	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5990	81611704	20919688	1621	29894										
EFTUD1	79631	genome.wustl.edu	37	chr15	82551473	82551473	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gattccattgctagatataaGacagtcagccagagtagttt	9	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:82551473G>A	ENST00000268206.7	-	3	283	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	39	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTAGATATAAGACAGTCAGCC	0.323																																																	0													138	132	134					15																	82551473		1821	4079	5900	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.115C>T	15.37:g.82551473G>A	ENSP00000268206:p.Leu39Phe		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L39F	ENST00000268206.7	37	c.115	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524159	0.64747	.	.	ENSG00000140598	ENST00000268206	D	0.84800	-1.9	3.62	3.62	0.41486	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.40469	U	0.001093	D	0.93239	0.7846	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94822	0.7988	10	0.87932	D	0	-8.2708	15.0647	0.71983	0.0:0.0:1.0:0.0	.	39	Q7Z2Z2	ETUD1_HUMAN	F	39	ENSP00000268206:L39F	ENSP00000268206:L39F	L	-	1	0	EFTUD1	80338528	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.643000	0.54374	1.878000	0.54408	0.436000	0.28706	CTT	EFTUD1	-	pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.323	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	G	NM_024580		82551473	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82551473	G	A	82551473	3	1	160	1	0	0	0	0	1	0	0	0	4970	942	33	1	3319	1	EFTUD1	15	82551473	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	939769	82551473	19979919	1622	29895										
FSD2	123722	genome.wustl.edu	37	chr15	83455623	83455623	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acagaagacatcagcagcttCttcttcatcctcttcctcgg	6	14	5	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:83455623C>T	ENST00000334574.8	-	2	701	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	FSD2_ENST00000541889.1_Missense_Mutation_p.E174K			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	174										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCAGCAGCTTCTTCTTCATCC	0.483																																																	0													131	129	130					15																	83455623		2010	4182	6192	SO:0001583	missense	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.520G>A	15.37:g.83455623C>T	ENSP00000335651:p.Glu174Lys		B3KVG1|B7ZM02	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.E174K	ENST00000334574.8	37	c.520	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954681	0.73902	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.18502	2.21;2.21	5.12	5.12	0.69794	.	0.243109	0.38272	N	0.001742	T	0.33789	0.0875	M	0.61703	1.905	0.30512	N	0.76936	D;D	0.69078	0.993;0.997	P;P	0.60012	0.757;0.867	T	0.24657	-1.0154	10	0.56958	D	0.05	-16.1206	12.6556	0.56786	0.1649:0.8351:0.0:0.0	.	174;174	B7ZM02;A1L4K1	.;FSD2_HUMAN	K	174	ENSP00000335651:E174K;ENSP00000444078:E174K	ENSP00000335651:E174K	E	-	1	0	FSD2	81252677	0.986000	0.35501	0.179000	0.23059	0.716000	0.41182	4.851000	0.62896	2.384000	0.81235	0.655000	0.94253	GAA	FSD2	-	NULL		0.483	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	C	NM_001007122		83455623	-1	no_errors	ENST00000334574	ensembl	human	known	70_37	missense	SNP	0.671	T	T	83455623	C	T	83455623	3	4	160	1	0	0	0	0	1	0	0	0	6089	922	32	1	1777	1	FSD2	15	83455623	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	904150	83455623	19075769	1623	29896										
TM6SF1	53346	genome.wustl.edu	37	chr15	83791585	83791585	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttcctgtctgggctggtttCagaatctataatcagccatc	8	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:83791585C>G	ENST00000322019.9	+	6	832	c.558C>G	c.(556-558)ttC>ttG	p.F186L	TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000565774.1_Missense_Mutation_p.F186L|TM6SF1_ENST00000379386.4_Missense_Mutation_p.F189L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	186						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGCTGGTTTCAGAATCTATA	0.368																																																	0													108	99	102					15																	83791585		2202	4300	6502	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.558C>G	15.37:g.83791585C>G	ENSP00000317000:p.Phe186Leu		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.F189L	ENST00000322019.9	37	c.567	CCDS10323.1	15	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276562	0.40294	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.26957	1.7;1.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	L	0.38838	1.175	0.80722	D	1	P;P	0.42456	0.78;0.78	B;B	0.34931	0.192;0.192	T	0.04693	-1.0933	10	0.12766	T	0.61	-1.5297	12.9056	0.58149	0.0:0.9255:0.0:0.0745	.	186;186	E9PD04;Q9BZW5	.;TM6S1_HUMAN	L	186;189;186	ENSP00000317000:F186L;ENSP00000368696:F189L	ENSP00000317000:F186L	F	+	3	2	TM6SF1	81582589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.358000	0.44134	2.941000	0.99782	0.655000	0.94253	TTC	TM6SF1	-	NULL		0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1	C	NM_023003		83791585	1	no_errors	ENST00000379386	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83791585	C	G	83791585	3	3	160	1	0	0	0	0	1	0	0	0	16002	825	29	1	580	1	TM6SF1	15	83791585	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	335962	83791585	18739807	1624	29897										
ALPK3	57538	genome.wustl.edu	37	chr15	85383373	85383373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccgagaatggagaggacgGagagcatggcttgctgacat	15	9	0	4	rs142197641		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:85383373G>A	ENST00000258888.5	+	5	1636	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	490					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G490E(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGAGGACGGAGAGCATGGC	0.552																																																	1	Substitution - Missense(1)	skin(1)											68	67	68					15																	85383373		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1469G>A	15.37:g.85383373G>A	ENSP00000258888:p.Gly490Glu		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G490E	ENST00000258888.5	37	c.1469	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	7.853	0.724414	0.15439	.	.	ENSG00000136383	ENST00000258888	T	0.58652	0.32	5.02	-0.552	0.11818	.	0.979790	0.08356	N	0.958493	T	0.29556	0.0737	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21449	-1.0245	10	0.02654	T	1	-5.3181	1.4705	0.02414	0.2342:0.2631:0.3678:0.1349	.	490	Q96L96	ALPK3_HUMAN	E	490	ENSP00000258888:G490E	ENSP00000258888:G490E	G	+	2	0	ALPK3	83184377	0.021000	0.18746	0.000000	0.03702	0.759000	0.43091	0.864000	0.27926	-0.397000	0.07691	-1.686000	0.00732	GGA	ALPK3	-	NULL		0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85383373	1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	0.000	A	A	85383373	G	A	85383373	3	1	160	1	0	0	0	0	1	0	0	0	546	1174	41	1	1487	1	ALPK3	15	85383373	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1591788	85383373	17148019	1625	29898										
ALPK3	57538	genome.wustl.edu	37	chr15	85401610	85401610	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccagggcgggagagacgctCccctacgcagggcagaaagg	16	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:85401610C>G	ENST00000258888.5	+	6	4414	c.4247C>G	c.(4246-4248)tCc>tGc	p.S1416C		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1416					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGACGCTCCCCTACGCAG	0.701																																																	0													11	14	13					15																	85401610		2138	4204	6342	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4247C>G	15.37:g.85401610C>G	ENSP00000258888:p.Ser1416Cys		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S1416C	ENST00000258888.5	37	c.4247	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	c	21.9	4.218611	0.79464	.	.	ENSG00000136383	ENST00000258888	T	0.76448	-1.02	5.92	5.92	0.95590	.	0.411190	0.27764	N	0.017955	D	0.87362	0.6158	M	0.71581	2.175	0.44834	D	0.997844	D	0.89917	1.0	D	0.83275	0.996	D	0.87736	0.2582	10	0.72032	D	0.01	-15.682	15.8261	0.78709	0.0:1.0:0.0:0.0	.	1416	Q96L96	ALPK3_HUMAN	C	1416	ENSP00000258888:S1416C	ENSP00000258888:S1416C	S	+	2	0	ALPK3	83202614	1.000000	0.71417	0.888000	0.34837	0.645000	0.38454	5.522000	0.67092	2.811000	0.96726	0.651000	0.88453	TCC	ALPK3	-	NULL		0.701	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	C	NM_020778		85401610	1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85401610	C	G	85401610	3	3	160	1	0	0	0	0	1	0	0	0	546	855	30	1	4269	1	ALPK3	15	85401610	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	18237	85401610	17129782	1626	29899										
AKAP13	11214	genome.wustl.edu	37	chr15	86064769	86064769	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgtcactgtacaagtactcgGaaggtcagttctgatacatt	9	9	3	1	rs116628862		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:86064769G>T	ENST00000394518.2	+	3	239	c.144G>T	c.(142-144)cgG>cgT	p.R48R	AKAP13_ENST00000361243.2_Silent_p.R48R|AKAP13_ENST00000560302.1_Silent_p.R48R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	48					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAGTACTCGGAAGGTCAGTT	0.413																																					Melanoma(94;603 1453 3280 32295 32951)												0													245	219	228					15																	86064769		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.144G>T	15.37:g.86064769G>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R48	ENST00000394518.2	37	c.144	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.413	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86064769	1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	1.000	T	T	86064769	G	T	86064769	2	4	160	1	0	0	0	0	0	0	0	1	449	1161	41	3		3	AKAP13	15	86064769	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	663159	86064769	16466623	1627	29900										
NTRK3	4916	genome.wustl.edu	37	chr15	88799372	88799372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actacacttggctgggcaaaGagagacatccatctccgatc	9	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:88799372G>C	ENST00000360948.2	-	2	174	c.13C>G	c.(13-15)Ctt>Gtt	p.L5V	NTRK3_ENST00000558676.1_Missense_Mutation_p.L5V|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000540489.2_Missense_Mutation_p.L5V|NTRK3_ENST00000317501.3_Missense_Mutation_p.L5V|NTRK3_ENST00000357724.2_Missense_Mutation_p.L5V|NTRK3_ENST00000557856.1_Missense_Mutation_p.L5V|NTRK3_ENST00000355254.2_Missense_Mutation_p.L5V|NTRK3_ENST00000394480.2_Missense_Mutation_p.L5V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	5					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGGGCAAAGAGAGACATCC	0.577			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													154	132	139					15																	88799372		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.13C>G	15.37:g.88799372G>C	ENSP00000354207:p.Leu5Val		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L5V	ENST00000360948.2	37	c.13	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	g	12.26	1.883150	0.33255	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	T;T;T;T;T;T	0.74947	-0.89;-0.85;-0.85;-0.89;-0.16;-0.16	3.59	3.59	0.41128	.	.	.	.	.	T	0.54759	0.1878	N	0.08118	0	0.25829	N	0.984197	B;B;B;B;B	0.29037	0.225;0.092;0.231;0.072;0.043	B;B;B;B;B	0.25140	0.02;0.011;0.037;0.058;0.026	T	0.43212	-0.9405	9	0.27082	T	0.32	.	14.1665	0.65480	0.0:0.0:1.0:0.0	.	5;5;5;5;5	E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	V	5	ENSP00000377990:L5V;ENSP00000354207:L5V;ENSP00000350356:L5V;ENSP00000347397:L5V;ENSP00000444673:L5V;ENSP00000318328:L5V	ENSP00000318328:L5V	L	-	1	0	NTRK3	86600376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.447000	0.60020	1.728000	0.51552	0.450000	0.29827	CTT	NTRK3	-	prints_Tyr_kin_neurotrophic_rcpt_3		0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		G			88799372	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88799372	G	C	88799372	3	2	160	1	0	0	0	0	1	0	0	0	10732	942	33	1	2840	1	NTRK3	15	88799372	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2734603	88799372	13732020	1628	29901										
MRPL46	26589	genome.wustl.edu	37	chr15	89010588	89010588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgccacccctaacagcgtCcgccttacgggcgccgccat	9	21	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:89010588C>T	ENST00000312475.4	-	1	62	c.21G>A	c.(19-21)cgG>cgA	p.R7R	MRPS11_ENST00000325844.4_5'Flank|MRPS11_ENST00000353598.6_5'Flank|MRPL46_ENST00000559538.1_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	7						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CTAACAGCGTCCGCCTTACGG	0.672																																																	0													10	13	12					15																	89010588		2177	4266	6443	SO:0001819	synonymous_variant	26589			AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.21G>A	15.37:g.89010588C>T			B2RD75|Q9HBU8	Silent	SNP	pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like	p.R7	ENST00000312475.4	37	c.21	CCDS10341.1	15																																																																																			MRPL46	-	NULL		0.672	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL46	HGNC	protein_coding	OTTHUMT00000309073.1	C	NM_022163		89010588	-1	no_errors	ENST00000312475	ensembl	human	known	70_37	silent	SNP	0.000	T	T	89010588	C	T	89010588	2	4	160	1	0	0	0	0	0	0	0	1	9833	842	30	1		1	MRPL46	15	89010588	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	211216	89010588	13520804	1629	29902										
ABHD2	11057	genome.wustl.edu	37	chr15	89728683	89728683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaccttcatgcaatgggatCagtgccggcggttctacaac	10	11	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:89728683C>G	ENST00000352732.5	+	7	1271	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ABHD2_ENST00000565973.1_Missense_Mutation_p.Q251E|ABHD2_ENST00000355100.3_Missense_Mutation_p.Q251E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	251					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAATGGGATCAGTGCCGGCG	0.582																																					Colon(11;252 417 24570 33239 41878)												0													121	95	104					15																	89728683		2200	4299	6499	SO:0001583	missense	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.751C>G	15.37:g.89728683C>G	ENSP00000268129:p.Gln251Glu		Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.Q251E	ENST00000352732.5	37	c.751	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210055	0.58343	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.59906	0.23;0.23	5.5	5.5	0.81552	Alpha/beta hydrolase fold-1 (1);	0.051496	0.85682	D	0.000000	T	0.53190	0.1781	L	0.44542	1.39	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44436	-0.9328	10	0.30854	T	0.27	-1.3624	19.4051	0.94644	0.0:1.0:0.0:0.0	.	251	P08910	ABHD2_HUMAN	E	251	ENSP00000268129:Q251E;ENSP00000347217:Q251E	ENSP00000268129:Q251E	Q	+	1	0	ABHD2	87529687	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.694000	0.61760	2.579000	0.87056	0.655000	0.94253	CAG	ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT		0.582	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	C			89728683	1	no_errors	ENST00000352732	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89728683	C	G	89728683	3	3	160	1	0	0	0	0	1	0	0	0	82	827	29	1	769	1	ABHD2	15	89728683	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	718095	89728683	12802709	1630	29903										
FANCI	55215	genome.wustl.edu	37	chr15	89816662	89816662	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcccttcagcattgctcttCttctgtctgtaacaagaata	6	11	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:89816662C>T	ENST00000310775.7	+	11	1023	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	FANCI_ENST00000300027.8_Missense_Mutation_p.L313F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	313					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATTGCTCTTCTTCTGTCTGT	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													118	124	122					15																	89816662		2200	4299	6499	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.937C>T	15.37:g.89816662C>T	ENSP00000310842:p.Leu313Phe		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.L313F	ENST00000310775.7	37	c.937	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846771	0.51164	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.77750	-1.08;-1.12;-0.36	5.44	2.37	0.29283	.	0.072264	0.56097	N	0.000021	D	0.84924	0.5580	M	0.76002	2.32	0.80722	D	1	B;D;D	0.89917	0.028;1.0;1.0	B;D;D	0.81914	0.042;0.992;0.995	D	0.83425	0.0035	10	0.51188	T	0.08	-5.0947	9.4727	0.38853	0.0:0.6303:0.0:0.3697	.	313;313;313	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	F	313	ENSP00000300027:L313F;ENSP00000310842:L313F;ENSP00000413249:L313F	ENSP00000300027:L313F	L	+	1	0	FANCI	87617666	0.962000	0.33011	1.000000	0.80357	0.700000	0.40528	0.132000	0.15891	0.609000	0.30018	-0.349000	0.07799	CTT	FANCI	-	NULL		0.313	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	C	NM_018193		89816662	1	no_errors	ENST00000310775	ensembl	human	known	70_37	missense	SNP	0.995	T	T	89816662	C	T	89816662	3	4	160	1	0	0	0	0	1	0	0	0	5687	913	32	1	975	1	FANCI	15	89816662	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	87979	89816662	12714730	1631	29904										
C15orf42	90381	genome.wustl.edu	37	chr15	90127592	90127592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagagacattttcagaaacCagtcagaatttttctaaaag	6	7	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:90127592C>T	ENST00000268138.7	+	3	1115	c.1010C>T	c.(1009-1011)cCa>cTa	p.P337L	TICRR_ENST00000560985.1_Missense_Mutation_p.P336L|RP11-429B14.1_ENST00000559041.1_RNA|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	337					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTTCAGAAACCAGTCAGAATT	0.473																																																	0													74	72	73					15																	90127592		1838	4085	5923	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1010C>T	15.37:g.90127592C>T	ENSP00000268138:p.Pro337Leu		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.P337L	ENST00000268138.7	37	c.1010	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513680	0.44763	.	.	ENSG00000140534	ENST00000268138	T	0.18502	2.21	5.26	5.26	0.73747	.	0.247439	0.41823	D	0.000815	T	0.30665	0.0772	L	0.52364	1.645	0.54753	D	0.999988	D	0.71674	0.998	D	0.63597	0.916	T	0.02491	-1.1151	10	0.07030	T	0.85	-8.088	17.4083	0.87479	0.0:1.0:0.0:0.0	.	337	Q7Z2Z1	TICRR_HUMAN	L	337	ENSP00000268138:P337L	ENSP00000268138:P337L	P	+	2	0	C15orf42	87928596	1.000000	0.71417	0.981000	0.43875	0.123000	0.20343	5.169000	0.64984	2.624000	0.88883	0.650000	0.86243	CCA	TICRR	-	NULL		0.473	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90127592	1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.994	T	T	90127592	C	T	90127592	3	4	160	1	0	0	0	0	1	0	0	0	1800	594	21	4	1020	4	C15orf42	15	90127592	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	310930	90127592	12403800	1632	29905										
KIF7	374654	genome.wustl.edu	37	chr15	90190196	90190196	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacccgggaggcaggccattCaggagccgcgggccccccca	15	17	1	0	rs534492655		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:90190196C>T	ENST00000394412.3	-	7	1729	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	551	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCAGGCCATTCAGGAGCCGCG	0.701											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0	0.0014	5008	,	,		13224	0		0	False		,,,				2504	0																0													18	22	21					15																	90190196		2198	4296	6494	SO:0001819	synonymous_variant	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1653G>A	15.37:g.90190196C>T		1273	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L551	ENST00000394412.3	37	c.1653	CCDS32325.2	15																																																																																			KIF7	-	NULL		0.701	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90190196	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90190196	C	T	90190196	2	4	160	1	0	0	0	0	0	0	0	1	8329	813	29	1		1	KIF7	15	90190196	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	62604	90190196	12341196	1633	29906										
KIF7	374654	genome.wustl.edu	37	chr15	90192361	90192361	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgtcttgagcaccctctctGagcccgccaggtccacgaag	10	17	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:90192361G>C	ENST00000394412.3	-	4	843	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CACCCTCTCTGAGCCCGCCAG	0.706																																																	0													9	13	12					15																	90192361		684	1585	2269	SO:0001587	stop_gained	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.767C>G	15.37:g.90192361G>C	ENSP00000377934:p.Ser256*		Q3SXY0|Q6UXE9|Q8IW72	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S256*	ENST00000394412.3	37	c.767	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	37	6.314610	0.97467	.	.	ENSG00000166813	ENST00000394412	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1553	0.86790	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000377934:S256X	S	-	2	0	KIF7	87993365	1.000000	0.71417	0.932000	0.37286	0.992000	0.81027	9.443000	0.97568	2.205000	0.71048	0.651000	0.88453	TCA	KIF7	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.706	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	G	NM_198525		90192361	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	90192361	G	C	90192361	4	2	160	1	0	0	0	0	0	1	0	0	8329	1294	45	1	3328	1	KIF7	15	90192361	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2165	90192361	12339031	1634	29907										
BLM	641	genome.wustl.edu	37	chr15	91295145	91295146	+	Frame_Shift_Ins	INS	-	-	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctccagaagaaattatttINSctgcttcttcttcctcttca							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91295145_91295146insG	ENST00000355112.3	+	4	1046_1047	c.928_929insG	c.(928-930)tctfs	p.S310fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.S310fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	310	Necessary for interaction with SPIDR.|Poly-Ser.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAAATTATTTCTGCTTCTTCT	0.292			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	0																																										SO:0001589	frameshift_variant	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	Exception_encountered	15.37:g.91295145_91295146insG	ENSP00000347232:p.Ser310fs		Q52M96	Frame_Shift_Ins	INS	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S310fs	ENST00000355112.3	37	c.928_929	CCDS10363.1	15																																																																																			BLM	-	NULL		0.292	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	-			91295146	1	no_errors	ENST00000355112	ensembl	human	known	70_37	frame_shift_ins	INS	0.060:0.064	G	G	91295146	-	G	91295145	7	5	160	1	0	1	1	0	0	0	0	0	1446	1783	62	0	938	0	BLM	15	91295145	Frame_Shift_Ins	INS	-	TCGA-JW-A5VL-01A-11D-A28B-09	1102784	91295145	11236247	1635	29908	190	2								
BLM	641	genome.wustl.edu	37	chr15	91295146	91295146	+	Missense_Mutation	SNP	C	C	G													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctccagaagaaattatttCtgcttcttcttcctcttcaa							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91295146C>G	ENST00000355112.3	+	4	1047	c.929C>G	c.(928-930)tCt>tGt	p.S310C	BLM_ENST00000560509.1_Missense_Mutation_p.S310C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	310	Necessary for interaction with SPIDR.|Poly-Ser.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAAATTATTTCTGCTTCTTCT	0.294			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	0													104	104	104					15																	91295146		2198	4297	6495	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.929C>G	15.37:g.91295146C>G	ENSP00000347232:p.Ser310Cys		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S310C	ENST00000355112.3	37	c.929	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	C	12.52	1.964125	0.34659	.	.	ENSG00000197299	ENST00000355112	T	0.50001	0.76	5.92	5.0	0.66597	.	0.194939	0.36703	N	0.002459	T	0.61337	0.2339	M	0.71581	2.175	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.60789	0.879;0.879	T	0.55891	-0.8069	10	0.38643	T	0.18	-26.3989	10.9228	0.47174	0.0:0.914:0.0:0.086	.	310;310	B2RAN0;P54132	.;BLM_HUMAN	C	310	ENSP00000347232:S310C	ENSP00000347232:S310C	S	+	2	0	BLM	89096150	0.866000	0.29940	0.011000	0.14972	0.263000	0.26337	2.585000	0.46111	1.491000	0.48482	0.655000	0.94253	TCT	BLM	-	NULL		0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	C			91295146	1	no_errors	ENST00000355112	ensembl	human	known	70_37	missense	SNP	0.064	G	G	91295146	C	G	91295146	3	3	160	1	0	0	0	0	1	0	0	0	1446	913	32	1	939	1	BLM	15	91295146	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1	91295146	11236246	1636	29909	190	2								
FURIN	5045	genome.wustl.edu	37	chr15	91419569	91419569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccgcggcacagccggctgCagagggagcctcaagtgagt	16	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91419569C>T	ENST00000268171.3	+	3	541	c.262C>T	c.(262-264)Cag>Tag	p.Q88*		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	88					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGCCGGCTGCAGAGGGAGCC	0.662																																																	0													48	55	53					15																	91419569		2198	4298	6496	SO:0001587	stop_gained	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.262C>T	15.37:g.91419569C>T	ENSP00000268171:p.Gln88*		Q14336|Q6LBS3|Q9UCZ5	Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Q88*	ENST00000268171.3	37	c.262	CCDS10364.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.139388	0.97320	.	.	ENSG00000140564	ENST00000268171	.	.	.	4.82	3.88	0.44766	.	0.523917	0.20476	N	0.091600	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0196	8.2126	0.31492	0.1521:0.6169:0.231:0.0	.	.	.	.	X	88	.	ENSP00000268171:Q88X	Q	+	1	0	FURIN	89220573	0.920000	0.31207	1.000000	0.80357	0.982000	0.71751	0.775000	0.26689	1.220000	0.43490	0.555000	0.69702	CAG	FURIN	-	superfamily_Prot_inh_propept		0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	C	NM_002569		91419569	1	no_errors	ENST00000268171	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	91419569	C	T	91419569	4	4	160	1	0	0	0	0	0	1	0	0	6117	711	25	4	268	4	FURIN	15	91419569	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	124423	91419569	11111823	1637	29910										
UNC45A	55898	genome.wustl.edu	37	chr15	91496406	91496406	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcaggacctcttcgaagccCagggcaatgaccgactgaag	12	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:91496406C>T	ENST00000418476.2	+	19	2483	c.2443C>T	c.(2443-2445)Cag>Tag	p.Q815*	RCCD1_ENST00000556618.1_5'Flank|AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000394275.2_Nonsense_Mutation_p.Q800*|RCCD1_ENST00000555155.1_5'Flank|RCCD1_ENST00000394258.2_5'Flank	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	815					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTCGAAGCCCAGGGCAATGA	0.607																																																	0													77	82	81					15																	91496406		2198	4298	6496	SO:0001587	stop_gained	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.2443C>T	15.37:g.91496406C>T	ENSP00000407487:p.Gln815*		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Nonsense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q815*	ENST00000418476.2	37	c.2443	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	c	36	5.603722	0.96626	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	.	.	.	5.63	-8.08	0.01094	.	1.898950	0.02812	N	0.124416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	0.0094	13.0206	0.58784	0.2275:0.1282:0.6443:0.0	.	.	.	.	X	800;815	.	ENSP00000377816:Q800X	Q	+	1	0	UNC45A	89297410	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	0.171000	0.16685	-1.655000	0.01497	-0.137000	0.14449	CAG	UNC45A	-	superfamily_ARM-type_fold		0.607	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	C	NM_018671		91496406	1	no_errors	ENST00000418476	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	91496406	C	T	91496406	4	4	160	1	0	0	0	0	0	1	0	0	17019	595	21	4	2517	4	UNC45A	15	91496406	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	76837	91496406	11034986	1638	29911										
MCTP2	55784	genome.wustl.edu	37	chr15	94899419	94899419	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccttgaaaaagaaccaactCtggaacgggattataagtat	8	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:94899419C>G	ENST00000357742.4	+	8	1059	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000451018.3_Silent_p.L353L|MCTP2_ENST00000543482.1_Silent_p.L353L|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	353	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAACCAACTCTGGAACGGGA	0.403																																																	0													131	135	134					15																	94899419		2197	4298	6495	SO:0001819	synonymous_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1059C>G	15.37:g.94899419C>G			A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L353	ENST00000357742.4	37	c.1059	CCDS32338.1	15																																																																																			MCTP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.403	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	C	NM_018349		94899419	1	no_errors	ENST00000357742	ensembl	human	known	70_37	silent	SNP	1.000	G	G	94899419	C	G	94899419	2	3	160	1	0	0	0	0	0	0	0	1	9424	900	32	1		1	MCTP2	15	94899419	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3403013	94899419	7631973	1639	29912										
FAM169B	283777	genome.wustl.edu	37	chr15	99023833	99023833	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccatgcatccctcacctttCatcttggttgtgtaaaaccc	6	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:99023833C>T	ENST00000558256.1	-	4	429	c.180G>A	c.(178-180)atG>atA	p.M60I	FAM169B_ENST00000332908.4_Missense_Mutation_p.M60I	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	60								p.M60I(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CCTCACCTTTCATCTTGGTTG	0.527																																																	1	Substitution - Missense(1)	lung(1)											88	89	88					15																	99023833		1951	4154	6105	SO:0001583	missense	283777				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.180G>A	15.37:g.99023833C>T	ENSP00000453554:p.Met60Ile		B5MDL8	Missense_Mutation	SNP	NULL	p.M60I	ENST00000558256.1	37	c.180	CCDS45360.1	15	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351706	0.24512	.	.	ENSG00000185087	ENST00000332908	T	0.30981	1.51	5.06	5.06	0.68205	.	1.297960	0.04830	N	0.438500	T	0.29256	0.0728	L	0.42245	1.32	0.27171	N	0.960917	P	0.34587	0.458	B	0.24394	0.053	T	0.21861	-1.0233	10	0.41790	T	0.15	-0.8801	12.8593	0.57903	0.0:0.836:0.164:0.0	.	60	Q8N8A8	F169B_HUMAN	I	60	ENSP00000332615:M60I	ENSP00000332615:M60I	M	-	3	0	FAM169B	96841356	0.925000	0.31364	0.932000	0.37286	0.876000	0.50452	1.774000	0.38573	2.336000	0.79503	0.655000	0.94253	ATG	FAM169B	-	NULL		0.527	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169B	HGNC	protein_coding	OTTHUMT00000415488.1	C	NM_182562		99023833	-1	no_errors	ENST00000332908	ensembl	human	known	70_37	missense	SNP	0.939	T	T	99023833	C	T	99023833	3	4	160	1	0	0	0	0	1	0	0	0	5503	826	29	1	414	1	FAM169B	15	99023833	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4124414	99023833	3507559	1640	29913										
IGF1R	3480	genome.wustl.edu	37	chr15	99434640	99434640	+	Missense_Mutation	SNP	G	G	C													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggcagctgcagcgcgcctGacaacgacacggcctgtgta							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:99434640G>C	ENST00000268035.6	+	3	1338	c.727G>C	c.(727-729)Gac>Cac	p.D243H	IGF1R_ENST00000560432.1_3'UTR|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.D243H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	243					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAGCGCGCCTGACAACGACAC	0.642																																																	0													61	48	52					15																	99434640		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.727G>C	15.37:g.99434640G>C	ENSP00000268035:p.Asp243His		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.D243H	ENST00000268035.6	37	c.727	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452089	0.43531	.	.	ENSG00000140443	ENST00000268035	D	0.84298	-1.83	5.29	5.29	0.74685	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000010	D	0.82595	0.5071	L	0.60455	1.87	0.54753	D	0.999988	B;B	0.18610	0.029;0.008	B;B	0.16289	0.015;0.006	T	0.79745	-0.1674	10	0.59425	D	0.04	.	13.5973	0.61998	0.0751:0.0:0.9249:0.0	.	243;243	C9J5X1;P08069	.;IGF1R_HUMAN	H	243	ENSP00000268035:D243H	ENSP00000268035:D243H	D	+	1	0	IGF1R	97252163	0.998000	0.40836	0.983000	0.44433	0.894000	0.52154	2.712000	0.47186	2.632000	0.89209	0.561000	0.74099	GAC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.642	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	G	NM_000875		99434640	1	no_errors	ENST00000268035	ensembl	human	known	70_37	missense	SNP	0.991	C	C	99434640	G	C	99434640	3	2	160	1	0	0	0	0	1	0	0	0	7591	1290	45	1	737	1	IGF1R	15	99434640	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	410807	99434640	3096752	1641	29914	191	2								
IGF1R	3480	genome.wustl.edu	37	chr15	99434645	99434645	+	Missense_Mutation	SNP	C	C	A													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgcagcgcgcctgacaaCgacacggcctgtgtagcttg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:99434645C>A	ENST00000268035.6	+	3	1343	c.732C>A	c.(730-732)aaC>aaA	p.N244K	IGF1R_ENST00000560432.1_3'UTR|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.N244K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	244					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGCCTGACAACGACACGGCCT	0.642																																																	0													62	48	53					15																	99434645		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.732C>A	15.37:g.99434645C>A	ENSP00000268035:p.Asn244Lys		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.N244K	ENST00000268035.6	37	c.732	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801674	0.70682	.	.	ENSG00000140443	ENST00000268035	D	0.97598	-4.45	5.29	5.29	0.74685	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.096661	0.44097	D	0.000499	D	0.95993	0.8695	M	0.62723	1.935	0.58432	D	0.999999	P;B	0.36412	0.552;0.013	B;B	0.34590	0.186;0.045	D	0.96056	0.9035	10	0.66056	D	0.02	.	19.2885	0.94089	0.0:1.0:0.0:0.0	.	244;244	C9J5X1;P08069	.;IGF1R_HUMAN	K	244	ENSP00000268035:N244K	ENSP00000268035:N244K	N	+	3	2	IGF1R	97252168	0.994000	0.37717	0.998000	0.56505	0.809000	0.45718	0.489000	0.22387	2.632000	0.89209	0.561000	0.74099	AAC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.642	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99434645	1	no_errors	ENST00000268035	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99434645	C	A	99434645	3	1	160	1	0	0	0	0	1	0	0	0	7591	535	19	2	742	2	IGF1R	15	99434645	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5	99434645	3096747	1642	29915	191	2								
ADAMTS17	170691	genome.wustl.edu	37	chr15	100594105	100594105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagcccagcaagttaccatCaagtgcagcggtagtttggt	12	9	1	0	rs577389531		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:100594105C>G	ENST00000268070.4	-	16	2397	c.2292G>C	c.(2290-2292)ttG>ttC	p.L764F		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	764	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AAGTTACCATCAAGTGCAGCG	0.552													C|||	1	0.000199681	0	0	5008	,	,		18601	0.001		0	False		,,,				2504	0																0													299	285	290					15																	100594105		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2292G>C	15.37:g.100594105C>G	ENSP00000268070:p.Leu764Phe		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L764F	ENST00000268070.4	37	c.2292	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739927	0.49045	.	.	ENSG00000140470	ENST00000268070	T	0.57436	0.4	5.9	3.98	0.46160	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000028	T	0.56906	0.2017	L	0.39020	1.185	0.58432	D	0.999999	D	0.56968	0.978	D	0.63283	0.913	T	0.52313	-0.8592	10	0.36615	T	0.2	.	10.0639	0.42292	0.0:0.672:0.2597:0.0683	.	764	Q8TE56	ATS17_HUMAN	F	764	ENSP00000268070:L764F	ENSP00000268070:L764F	L	-	3	2	ADAMTS17	98411628	0.999000	0.42202	0.973000	0.42090	0.354000	0.29330	0.567000	0.23608	0.797000	0.33971	0.655000	0.94253	TTG	ADAMTS17	-	pfam_ADAM_spacer1		0.552	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	C	NM_139057		100594105	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100594105	C	G	100594105	3	3	160	1	0	0	0	0	1	0	0	0	262	825	29	1	1023	1	ADAMTS17	15	100594105	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1159460	100594105	1937287	1643	29916										
LASS3	204219	genome.wustl.edu	37	chr15	101042036	101042036	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctttccaaccagaaccattCtttaaacgtccaaaacattc	2	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:101042036C>G	ENST00000394113.1	-	5	709	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.E7Q|CERS3_ENST00000538112.2_Missense_Mutation_p.E7Q			Q8IU89	CERS3_HUMAN	ceramide synthase 3	7					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CAGAACCATTCTTTAAACGTC	0.373																																																	0													88	80	83					15																	101042036		2203	4300	6503	SO:0001583	missense	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.19G>C	15.37:g.101042036C>G	ENSP00000377672:p.Glu7Gln		Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain	p.E7Q	ENST00000394113.1	37	c.19	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873685	0.51695	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.75589	-0.95;-0.95	5.19	4.27	0.50696	.	0.375970	0.28114	N	0.016543	T	0.65112	0.2660	L	0.55103	1.725	0.35801	D	0.823129	B	0.32245	0.361	B	0.25140	0.058	T	0.69881	-0.5025	10	0.41790	T	0.15	-11.9545	9.2025	0.37268	0.0:0.8971:0.0:0.1029	.	7	Q8IU89	CERS3_HUMAN	Q	7;18;7	ENSP00000284382:E7Q;ENSP00000437640:E7Q	ENSP00000284382:E7Q	E	-	1	0	CERS3	98859559	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.054000	0.49908	1.293000	0.44690	0.650000	0.86243	GAA	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1		0.373	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4	C	NM_178842		101042036	-1	no_errors	ENST00000284382	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101042036	C	G	101042036	3	3	160	1	0	0	0	0	1	0	0	0	8660	922	32	1	1172	1	LASS3	15	101042036	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	447931	101042036	1489356	1644	29917										
SNRPA1	6627	genome.wustl.edu	37	chr15	101835311	101835311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccggactcaccccggaggtCcagctcccggtcgcgcaccg	12	20	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:101835311C>T	ENST00000254193.6	-	1	145	c.73G>A	c.(73-75)Gac>Aac	p.D25N	RP11-299G20.2_ENST00000558838.1_RNA|SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	25					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCCGGAGGTCCAGCTCCCGG	0.711																																																	0													5	5	5					15																	101835311		2056	4055	6111	SO:0001583	missense	6627			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.73G>A	15.37:g.101835311C>T	ENSP00000254193:p.Asp25Asn		B2R5I6|Q8TBD2	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.D25N	ENST00000254193.6	37	c.73	CCDS10391.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028679	0.75390	.	.	ENSG00000131876	ENST00000254193;ENST00000540017;ENST00000394082	T	0.62639	0.01	4.4	3.48	0.39840	.	0.120272	0.53938	D	0.000048	T	0.57504	0.2058	L	0.41492	1.28	0.58432	D	0.999997	P	0.38195	0.622	P	0.46208	0.507	T	0.51044	-0.8755	10	0.27082	T	0.32	-12.3116	9.7814	0.40651	0.0:0.9028:0.0:0.0972	.	25	P09661	RU2A_HUMAN	N	25	ENSP00000254193:D25N	ENSP00000254193:D25N	D	-	1	0	SNRPA1	99652834	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.856000	0.62932	0.946000	0.37632	0.655000	0.94253	GAC	SNRPA1	-	NULL		0.711	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA1	HGNC	protein_coding	OTTHUMT00000313621.2	C	NM_003090		101835311	-1	no_errors	ENST00000254193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101835311	C	T	101835311	3	4	160	1	0	0	0	0	1	0	0	0	14890	855	30	1	730	1	SNRPA1	15	101835311	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	793275	101835311	696081	1645	29918										
TARSL2	123283	genome.wustl.edu	37	chr15	102194910	102194910	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgcacgtttacagcattatCtatcttttccttttctccaa	3	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:102194910C>G	ENST00000335968.3	-	19	2500	c.2284G>C	c.(2284-2286)Gat>Cat	p.D762H	TM2D3_ENST00000428002.2_5'Flank|TM2D3_ENST00000559107.1_5'Flank|TARSL2_ENST00000559492.1_5'UTR|TM2D3_ENST00000333202.3_5'Flank|TM2D3_ENST00000347970.3_5'Flank	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	762					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACAGCATTATCTATCTTTTCC	0.363																																																	0													99	91	94					15																	102194910		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2284G>C	15.37:g.102194910C>G	ENSP00000338093:p.Asp762His		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.D762H	ENST00000335968.3	37	c.2284	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407386	0.42715	.	.	ENSG00000185418	ENST00000335968;ENST00000333018	D	0.83075	-1.68	5.89	4.77	0.60923	Anticodon-binding (3);	0.195275	0.53938	D	0.000049	T	0.75042	0.3796	L	0.39326	1.205	0.26556	N	0.973824	B	0.10296	0.003	B	0.16722	0.016	T	0.67389	-0.5683	10	0.72032	D	0.01	-24.3537	7.4856	0.27429	0.0:0.1661:0.0:0.8339	.	762	A2RTX5	SYTC2_HUMAN	H	762;667	ENSP00000338093:D762H	ENSP00000329291:D667H	D	-	1	0	TARSL2	100012433	1.000000	0.71417	0.226000	0.23910	0.993000	0.82548	3.367000	0.52350	1.063000	0.40649	-0.312000	0.09012	GAT	TARSL2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.363	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102194910	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	0.903	G	G	102194910	C	G	102194910	3	3	160	1	0	0	0	0	1	0	0	0	15591	913	32	1	128	1	TARSL2	15	102194910	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	359599	102194910	336482	1646	29919										
OR4F15	390649	genome.wustl.edu	37	chr15	102359288	102359288	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgaaagtggcaatgaggaGactgtgcagtcgtcttgcgc	14	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr15:102359288G>A	ENST00000332238.4	+	1	923	c.899G>A	c.(898-900)aGa>aAa	p.R300K		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCAATGAGGAGACTGTGCAGT	0.368																																																	0													55	48	50					15																	102359288		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.899G>A	15.37:g.102359288G>A	ENSP00000333184:p.Arg300Lys		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R300K	ENST00000332238.4	37	c.899	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	2.079	-0.411294	0.04799	.	.	ENSG00000182854	ENST00000332238	T	0.35973	1.28	5.46	1.51	0.23008	.	.	.	.	.	T	0.18676	0.0448	N	0.12831	0.26	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.28427	-1.0044	8	.	.	.	.	7.7706	0.29006	0.4128:0.0:0.5872:0.0	.	300	Q8NGB8	O4F15_HUMAN	K	300	ENSP00000333184:R300K	.	R	+	2	0	OR4F15	100176811	0.000000	0.05858	0.550000	0.28217	0.039000	0.13416	0.037000	0.13840	0.449000	0.26747	-0.142000	0.14014	AGA	OR4F15	-	NULL		0.368	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	G	NM_001001674		102359288	1	no_errors	ENST00000332238	ensembl	human	known	70_37	missense	SNP	0.157	A	A	102359288	G	A	102359288	3	1	160	1	0	0	0	0	1	0	0	0	11085	942	33	1	901	1	OR4F15	15	102359288	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	164378	102359288	172104	1647	29920										
PIGQ	9091	genome.wustl.edu	37	chr16	624234	624234	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctcctggcccaggtgcggCaggccagccaggtgggcgtg	18	13	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:624234C>T	ENST00000026218.5	+	2	248	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	PIGQ_ENST00000321878.5_Nonsense_Mutation_p.Q54*|PIGQ_ENST00000470411.2_Nonsense_Mutation_p.Q54*|PIGQ_ENST00000409527.2_Nonsense_Mutation_p.Q54*	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	54					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCAGGTGCGGCAGGCCAGCCA	0.711																																																	0													43	35	38					16																	624234		2195	4298	6493	SO:0001587	stop_gained	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.160C>T	16.37:g.624234C>T	ENSP00000026218:p.Gln54*		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Nonsense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.Q54*	ENST00000026218.5	37	c.160	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910816	0.52439	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	.	.	.	5.21	2.96	0.34315	.	0.758893	0.13353	N	0.394273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-32.0489	14.3335	0.66574	0.2886:0.7114:0.0:0.0	.	.	.	.	X	54	.	ENSP00000026218:Q54X	Q	+	1	0	PIGQ	564235	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.365000	0.34182	1.120000	0.41904	0.511000	0.50034	CAG	PIGQ	-	NULL		0.711	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	C	NM_004204		624234	1	no_errors	ENST00000026218	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	624234	C	T	624234	4	4	160	1	0	0	0	0	0	1	0	0	11920	711	25	4	162	4	PIGQ	16	624234	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		624234	89730519	1648	29921										
C16orf13	84326	genome.wustl.edu	37	chr16	684553	684553	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcagggttcgtgcctcacaGagcctccggcagggatgcag	16	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:684553G>C	ENST00000301686.8	-	0	670				C16orf13_ENST00000397664.4_3'UTR|C16orf13_ENST00000397665.2_Silent_p.L177L|C16orf13_ENST00000338401.4_3'UTR|C16orf13_ENST00000397666.2_Silent_p.L197L	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13											large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGCCTCACAGAGCCTCCGGC	0.627																																																	0													115	136	129					16																	684553		2200	4300	6500	SO:0001624	3_prime_UTR_variant	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.*44C>G	16.37:g.684553G>C			A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Silent	SNP	pfam_DUF938	p.L197	ENST00000301686.8	37	c.591	CCDS45368.1	16																																																																																			C16orf13	-	NULL		0.627	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf13	HGNC	protein_coding	OTTHUMT00000109081.2	G	NM_001040160		684553	-1	no_errors	ENST00000397666	ensembl	human	known	70_37	silent	SNP	0.000	C	C	684553	G	C	684553	1	2	160	0	1	0	0	0	0	0	0	0	1815	929	33	1		1	C16orf13	16	684553	3'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	60319	684553	89670200	1649	29922										
FBXL16	146330	genome.wustl.edu	37	chr16	747106	747106	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaagagcccattgaggatCttctcgtccgtggccagcgg	13	12	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:747106C>G	ENST00000397621.1	-	2	631	c.300G>C	c.(298-300)aaG>aaC	p.K100N	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.K100N	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	100	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CATTGAGGATCTTCTCGTCCG	0.682																																																	0													20	24	22					16																	747106		2197	4292	6489	SO:0001583	missense	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.300G>C	16.37:g.747106C>G	ENSP00000380746:p.Lys100Asn		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.K100N	ENST00000397621.1	37	c.300	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	c	9.084	1.000076	0.19121	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.08807	3.05;3.05	4.25	2.28	0.28536	F-box domain, Skp2-like (1);	0.102755	0.64402	D	0.000004	T	0.09905	0.0243	L	0.61387	1.9	0.51482	D	0.99992	B	0.11235	0.004	B	0.08055	0.003	T	0.07404	-1.0774	10	0.51188	T	0.08	.	9.1099	0.36720	0.0:0.819:0.0:0.181	.	100	Q8N461	FXL16_HUMAN	N	100	ENSP00000380746:K100N;ENSP00000318674:K100N	ENSP00000318674:K100N	K	-	3	2	FBXL16	687107	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	3.645000	0.54389	0.278000	0.22164	0.313000	0.20887	AAG	FBXL16	-	superfamily_F-box_dom_cyclin-like		0.682	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	C	NM_153350		747106	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	missense	SNP	1.000	G	G	747106	C	G	747106	3	3	160	1	0	0	0	0	1	0	0	0	5730	912	32	1	1159	1	FBXL16	16	747106	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	62553	747106	89607647	1650	29923										
MSLN	10232	genome.wustl.edu	37	chr16	814672	814672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtctggctcaccggctctCtgagccccccgaggacctgg	12	17	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:814672C>G	ENST00000382862.3	+	6	421	c.326C>G	c.(325-327)tCt>tGt	p.S109C	MSLN_ENST00000566549.1_Missense_Mutation_p.S109C|MSLN_ENST00000563941.1_Missense_Mutation_p.S109C|MSLN_ENST00000545450.2_Missense_Mutation_p.S109C	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	109					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CACCGGCTCTCTGAGCCCCCC	0.682																																																	0													78	90	86					16																	814672		2199	4291	6490	SO:0001583	missense	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.326C>G	16.37:g.814672C>G	ENSP00000372313:p.Ser109Cys		D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	pfam_Mesothelin	p.S109C	ENST00000382862.3	37	c.326	CCDS32356.1	16	.	.	.	.	.	.	.	.	.	.	C	8.133	0.783521	0.16189	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.13657	2.57;2.57	2.54	2.54	0.30619	.	0.891435	0.09430	U	0.803257	T	0.24044	0.0582	L	0.40543	1.245	0.09310	N	1	D;D;D;D	0.69078	0.992;0.997;0.996;0.992	P;P;P;P	0.62813	0.753;0.907;0.85;0.753	T	0.13229	-1.0517	10	0.59425	D	0.04	-0.6102	8.2635	0.31799	0.0:1.0:0.0:0.0	.	108;109;109;109	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	C	109	ENSP00000442965:S109C;ENSP00000372313:S109C	ENSP00000372313:S109C	S	+	2	0	MSLN	754673	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.684000	0.25364	1.231000	0.43661	0.561000	0.74099	TCT	MSLN	-	pfam_Mesothelin		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	C			814672	1	no_errors	ENST00000382862	ensembl	human	known	70_37	missense	SNP	0.021	G	G	814672	C	G	814672	3	3	160	1	0	0	0	0	1	0	0	0	9904	913	32	1	344	1	MSLN	16	814672	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	67566	814672	89540081	1651	29924										
CACNA1H	8912	genome.wustl.edu	37	chr16	1270951	1270951	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggagaaaccagggtccccctCagccacccctgccccagggg	12	18	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1270951C>G	ENST00000348261.5	+	35	7267	c.7019C>G	c.(7018-7020)tCa>tGa	p.S2340*	CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.S2334*|CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.S2334*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2340					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGTCCCCCTCAGCCACCCCT	0.701																																																	0													15	17	16					16																	1270951		1834	4070	5904	SO:0001587	stop_gained	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.7019C>G	16.37:g.1270951C>G	ENSP00000334198:p.Ser2340*		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.S2340*	ENST00000348261.5	37	c.7019	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	c	24.4	4.525142	0.85600	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	3.38	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.28433	N	0.917162	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3424	0.26644	0.0:0.8716:0.0:0.1284	.	.	.	.	X	2340;2334	.	ENSP00000334198:S2340X	S	+	2	0	CACNA1H	1210952	0.000000	0.05858	0.027000	0.17364	0.073000	0.16967	0.925000	0.28791	0.636000	0.30508	0.580000	0.79431	TCA	CACNA1H	-	NULL		0.701	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1270951	1	no_errors	ENST00000348261	ensembl	human	known	70_37	nonsense	SNP	0.394	G	G	1270951	C	G	1270951	4	3	160	1	0	0	0	0	0	1	0	0	2550	838	29	1	7153	1	CACNA1H	16	1270951	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	456279	1270951	89083802	1652	29925										
BAIAP3	8938	genome.wustl.edu	37	chr16	1392548	1392548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggtgcctgtggctggcgtCgaccgctggttcaagctgga	17	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1392548C>T	ENST00000324385.5	+	12	1241	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	BAIAP3_ENST00000426824.3_Silent_p.V326V|BAIAP3_ENST00000397489.1_Silent_p.V343V|BAIAP3_ENST00000421665.2_Intron|BAIAP3_ENST00000562208.1_Silent_p.V303V|BAIAP3_ENST00000397488.2_Silent_p.V343V|BAIAP3_ENST00000568887.1_Silent_p.V298V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	361					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGCTGGCGTCGACCGCTGGT	0.642																																																	0													15	13	13					16																	1392548		2106	4181	6287	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1083C>T	16.37:g.1392548C>T			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V361	ENST00000324385.5	37	c.1083	CCDS10434.1	16																																																																																			BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392548	1	no_errors	ENST00000324385	ensembl	human	known	70_37	silent	SNP	0.002	T	T	1392548	C	T	1392548	2	4	160	1	0	0	0	0	0	0	0	1	1305	871	31	1		1	BAIAP3	16	1392548	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	121597	1392548	88962205	1653	29926										
CLCN7	1186	genome.wustl.edu	37	chr16	1502884	1502884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatcacctgcaggcagggccGgtggatgtacctggaaccaa	13	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1502884G>A	ENST00000382745.4	-	15	1830	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	CLCN7_ENST00000262318.8_Missense_Mutation_p.R385W|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	409					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGCAGGGCCGGTGGATGTAC	0.662																																																	0													15	14	14					16																	1502884		2162	4278	6440	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1225C>T	16.37:g.1502884G>A	ENSP00000372193:p.Arg409Trp		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.R409W	ENST00000382745.4	37	c.1225	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835133	0.32421	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94330	-3.4;-3.4	5.15	5.15	0.70609	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	L	0.58583	1.82	0.80722	D	1	B;D	0.89917	0.019;1.0	B;D	0.70716	0.023;0.97	D	0.93966	0.7245	10	0.35671	T	0.21	-33.6187	13.1101	0.59268	0.0:0.0:0.8391:0.1609	.	385;409	E9PDB9;P51798	.;CLCN7_HUMAN	W	385;362;409;351	ENSP00000410907:R385W;ENSP00000372193:R409W	ENSP00000262318:R362W	R	-	1	2	CLCN7	1442885	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	2.821000	0.48065	2.404000	0.81709	0.561000	0.74099	CGG	CLCN7	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	G	NM_001287		1502884	-1	no_errors	ENST00000382745	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1502884	G	A	1502884	3	1	160	1	0	0	0	0	1	0	0	0	3473	1115	39	2	1236	2	CLCN7	16	1502884	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	110336	1502884	88851869	1654	29927										
IFT140	9742	genome.wustl.edu	37	chr16	1568328	1568328	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggagcagctcacactgcttGatggactccttggggtcctc	12	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1568328G>C	ENST00000426508.2	-	30	4434	c.4071C>G	c.(4069-4071)atC>atG	p.I1357M	IFT140_ENST00000361339.5_Missense_Mutation_p.I551M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1357					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACACTGCTTGATGGACTCCT	0.607																																																	0													104	75	84					16																	1568328		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4071C>G	16.37:g.1568328G>C	ENSP00000406012:p.Ile1357Met		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1357M	ENST00000426508.2	37	c.4071	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	G	3.640	-0.073664	0.07184	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.59638	1.42;0.25	4.68	-0.642	0.11486	.	0.236251	0.34046	N	0.004302	T	0.27454	0.0674	N	0.03608	-0.345	0.09310	N	1	B;B	0.26935	0.015;0.164	B;B	0.29862	0.035;0.108	T	0.22277	-1.0221	10	0.23891	T	0.37	.	6.928	0.24426	0.0776:0.4338:0.3787:0.1099	.	1357;1044	Q96RY7;B4DR58	IF140_HUMAN;.	M	1357;551;1357	ENSP00000354895:I551M;ENSP00000406012:I1357M	ENSP00000354895:I551M	I	-	3	3	IFT140	1508329	0.143000	0.22626	0.008000	0.14137	0.668000	0.39293	0.648000	0.24828	0.031000	0.15407	0.555000	0.69702	ATC	IFT140	-	NULL		0.607	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	G	NM_014714		1568328	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	missense	SNP	0.000	C	C	1568328	G	C	1568328	3	2	160	1	0	0	0	0	1	0	0	0	7576	1280	45	1	325	1	IFT140	16	1568328	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	65444	1568328	88786425	1655	29928										
IFT140	9742	genome.wustl.edu	37	chr16	1614148	1614148	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taatttttcagtccctcatcCacaaagaggtggctcctaaa	6	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1614148C>G	ENST00000426508.2	-	17	2280	c.1917G>C	c.(1915-1917)gtG>gtC	p.V639V	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	639					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GTCCCTCATCCACAAAGAGGT	0.577																																																	0													43	47	45					16																	1614148		2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1917G>C	16.37:g.1614148C>G			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V639	ENST00000426508.2	37	c.1917	CCDS10439.1	16																																																																																			IFT140	-	NULL		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	C	NM_014714		1614148	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	silent	SNP	0.000	G	G	1614148	C	G	1614148	2	3	160	1	0	0	0	0	0	0	0	1	7576	581	21	4		4	IFT140	16	1614148	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	45820	1614148	88740605	1656	29929										
IFT140	9742	genome.wustl.edu	37	chr16	1642482	1642482	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acttactcgccaggagggggGagccggaagatgcagtgcgt	17	9	0	1	rs201338414		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1642482G>C	ENST00000426508.2	-	5	840	c.477C>G	c.(475-477)ctC>ctG	p.L159L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	159					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGAGGGGGGAGCCGGAAGA	0.617																																																	0													98	89	92					16																	1642482		2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.477C>G	16.37:g.1642482G>C			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L159	ENST00000426508.2	37	c.477	CCDS10439.1	16																																																																																			IFT140	-	superfamily_WD40_repeat_dom		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	G	NM_014714		1642482	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	silent	SNP	0.005	C	C	1642482	G	C	1642482	2	2	160	1	0	0	0	0	0	0	0	1	7576	1161	41	1		1	IFT140	16	1642482	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	28334	1642482	88712271	1657	29930										
FAHD1	81889	genome.wustl.edu	37	chr16	1877400	1877400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcctacgcgcccgagggctCgcccatcctcatgcccgcgt	12	19	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:1877400C>T	ENST00000427358.2	+	1	176	c.170C>T	c.(169-171)tCg>tTg	p.S57L	HAGH_ENST00000397353.2_5'Flank|HAGH_ENST00000566709.1_5'Flank|HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000455446.2_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.S57L|FAHD1_ENST00000382666.4_Missense_Mutation_p.S57L	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	57						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						CCCGAGGGCTCGCCCATCCTC	0.701																																																	0													38	34	36					16																	1877400		2199	4298	6497	SO:0001583	missense	81889			BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.170C>T	16.37:g.1877400C>T	ENSP00000398053:p.Ser57Leu		B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.S57L	ENST00000427358.2	37	c.170	CCDS10448.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934391	0.73442	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.45668	0.89;0.89;0.89	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.300667	0.32640	N	0.005825	T	0.41442	0.1159	L	0.57536	1.79	0.52501	D	0.999954	B;B;B	0.30439	0.143;0.279;0.167	B;B;B	0.25884	0.014;0.064;0.025	T	0.44590	-0.9318	10	0.59425	D	0.04	.	16.8095	0.85715	0.0:1.0:0.0:0.0	.	57;57;57	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	L	57	ENSP00000372114:S57L;ENSP00000372112:S57L;ENSP00000398053:S57L	ENSP00000372112:S57L	S	+	2	0	FAHD1	1817401	0.012000	0.17670	0.978000	0.43139	0.978000	0.69477	2.417000	0.44653	2.458000	0.83093	0.655000	0.94253	TCG	FAHD1	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel		0.701	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD1	HGNC	protein_coding	OTTHUMT00000250550.2	C	NM_001018104		1877400	1	no_errors	ENST00000382666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1877400	C	T	1877400	3	4	160	1	0	0	0	0	1	0	0	0	5387	893	31	1	172	1	FAHD1	16	1877400	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	234918	1877400	88477353	1658	29931										
RPS2	6187	genome.wustl.edu	37	chr16	2012214	2012214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtgaatacagtctccttcCagaggtcgggggtcaggtag	15	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2012214C>T	ENST00000343262.4	-	7	823	c.767G>A	c.(766-768)tGg>tAg	p.W256*	RPS2_ENST00000529806.1_3'UTR|SNORA64_ENST00000384674.1_RNA|SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000530225.1_3'UTR|RPS2_ENST00000526522.1_Nonsense_Mutation_p.W198*|SNORA10_ENST00000384084.1_RNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	256					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AGTCTCCTTCCAGAGGTCGGG	0.547																																																	0													57	68	65					16																	2012214		2199	4298	6497	SO:0001587	stop_gained	6187			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.767G>A	16.37:g.2012214C>T	ENSP00000341885:p.Trp256*		B2R5G0|D3DU82|Q3MIB1	Nonsense_Mutation	SNP	pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc	p.W256*	ENST00000343262.4	37	c.767	CCDS10452.1	16	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974830	0.74360	.	.	ENSG00000140988	ENST00000526522;ENST00000533186;ENST00000343262	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1005	0.86648	0.0:1.0:0.0:0.0	.	.	.	.	X	198;158;256	.	ENSP00000341885:W256X	W	-	2	0	RPS2	1952215	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.712000	0.84684	2.280000	0.76307	0.603000	0.83216	TGG	RPS2	-	pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Ribosomal_S5_euk/arc		0.547	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS2	HGNC	protein_coding	OTTHUMT00000250613.2	C	NM_002952		2012214	-1	no_errors	ENST00000343262	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2012214	C	T	2012214	4	4	160	1	0	0	0	0	0	1	0	0	13661	595	21	4	118	4	RPS2	16	2012214	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	134814	2012214	88342539	1659	29932										
TBL3	10607	genome.wustl.edu	37	chr16	2027758	2027758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaggatgtgaccgaggcgGagcaggcagaggagcaggcc	18	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2027758G>C	ENST00000568546.1	+	18	2043	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	639				EQ -> DE (in Ref. 1; AAA18945). {ECO:0000305}.	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GACCGAGGCGGAGCAGGCAGA	0.652																																					Melanoma(118;616 1651 35077 38081 48633)												0													47	40	42					16																	2027758		2167	4247	6414	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1915G>C	16.37:g.2027758G>C	ENSP00000454836:p.Glu639Gln		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E639Q	ENST00000568546.1	37	c.1915	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365682	0.61513	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095419	0.64402	N	0.000001	T	0.77552	0.4147	M	0.72479	2.2	0.54753	D	0.999982	P;D	0.89917	0.803;1.0	B;D	0.74348	0.41;0.983	T	0.71862	-0.4464	9	0.20046	T	0.44	-25.8775	18.8496	0.92222	0.0:0.0:1.0:0.0	.	401;639	A0JLS5;Q12788	.;TBL3_HUMAN	Q	639	.	ENSP00000331815:E639Q	E	+	1	0	TBL3	1967759	1.000000	0.71417	0.941000	0.38009	0.258000	0.26162	8.497000	0.90488	2.703000	0.92315	0.561000	0.74099	GAG	TBL3	-	pfscan_WD40_repeat_dom		0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	G	NM_006453		2027758	1	no_errors	ENST00000568546	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2027758	G	C	2027758	3	2	160	1	0	0	0	0	1	0	0	0	15673	1175	41	1	1985	1	TBL3	16	2027758	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	15544	2027758	88326995	1660	29933										
TSC2	7249	genome.wustl.edu	37	chr16	2129076	2129076	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgccagcttggggtctgcaGatgagaactccgtggcccag	15	11	1	2	rs137854287		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2129076G>A	ENST00000219476.3	+	27	3640	c.3010G>A	c.(3010-3012)Gat>Aat	p.D1004N	TSC2_ENST00000382538.6_Missense_Mutation_p.D912N|TSC2_ENST00000439673.2_Missense_Mutation_p.D924N|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Missense_Mutation_p.D961N|TSC2_ENST00000401874.2_Missense_Mutation_p.D960N|TSC2_ENST00000568454.1_Missense_Mutation_p.D971N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1004N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1004					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGGGTCTGCAGATGAGAACTC	0.612			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													103	86	92					16																	2129076		2197	4300	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3010G>A	16.37:g.2129076G>A	ENSP00000219476:p.Asp1004Asn		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.D1004N	ENST00000219476.3	37	c.3010	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.388753	0.95988	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.90444	-2.58;-2.6;-2.67;-2.64;-2.55	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.69078	0.992;0.997;0.995;0.997;0.987;0.997	D;D;D;D;P;D	0.81914	0.93;0.995;0.968;0.995;0.85;0.98	D	0.93585	0.6916	10	0.46703	T	0.11	-26.05	18.5973	0.91234	0.0:0.0:1.0:0.0	.	912;924;1004;960;960;1004	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	N	1004;961;961;924;912;1004	ENSP00000219476:D1004N;ENSP00000248099:D961N;ENSP00000399232:D924N;ENSP00000371978:D912N;ENSP00000344383:D1004N	ENSP00000219476:D1004N	D	+	1	0	TSC2	2069077	1.000000	0.71417	0.831000	0.32960	0.913000	0.54294	9.787000	0.99055	2.389000	0.81357	0.655000	0.94253	GAT	TSC2	-	NULL		0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2129076	1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2129076	G	A	2129076	3	1	160	1	0	0	0	0	1	0	0	0	16637	942	33	1	3112	1	TSC2	16	2129076	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	101318	2129076	88225677	1661	29934										
TSC2	7249	genome.wustl.edu	37	chr16	2129355	2129355	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacaagcttgtcactgtgacGacaagcgtgggaaccgggac	13	10	1	1	rs539927192		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2129355G>A	ENST00000219476.3	+	28	3840	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T	TSC2_ENST00000382538.6_Silent_p.T978T|TSC2_ENST00000439673.2_Silent_p.T990T|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Silent_p.T1027T|TSC2_ENST00000401874.2_Silent_p.T1026T|TSC2_ENST00000568454.1_Silent_p.T1037T|TSC2_ENST00000350773.4_Silent_p.T1070T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1070					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCACTGTGACGACAAGCGTGG	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				G|||	1	0.000199681	0	0	5008	,	,		16760	0.001		0	False		,,,				2504	0						yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													87	88	87					16																	2129355		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3210G>A	16.37:g.2129355G>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.T1070	ENST00000219476.3	37	c.3210	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2129355	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.056	A	A	2129355	G	A	2129355	2	1	160	1	0	0	0	0	0	0	0	1	16637	1045	37	1		1	TSC2	16	2129355	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	279	2129355	88225398	1662	29935										
PKD1	5310	genome.wustl.edu	37	chr16	2161292	2161292	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgcgcagcacctccaggacGaagaccagcacgtgcaggct	12	15	0	1	rs569009244		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2161292G>A	ENST00000262304.4	-	15	4084	c.3876C>T	c.(3874-3876)ttC>ttT	p.F1292F	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.F1292F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1292	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTCCAGGACGAAGACCAGCA	0.701																																																	0													14	16	15					16																	2161292		2173	4276	6449	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3876C>T	16.37:g.2161292G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.F1292	ENST00000262304.4	37	c.3876	CCDS32369.1	16																																																																																			PKD1	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2161292	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.975	A	A	2161292	G	A	2161292	2	1	160	1	0	0	0	0	0	0	0	1	11987	1049	37	1		1	PKD1	16	2161292	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	31937	2161292	88193461	1663	29936										
RAB26	25837	genome.wustl.edu	37	chr16	2201859	2201859	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgccctctgtccccagctCtgctgctgctctacgatgtc	8	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2201859C>G	ENST00000210187.6	+	5	578	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V	RP11-304L19.5_ENST00000563192.1_lincRNA|RAB26_ENST00000541451.1_Missense_Mutation_p.L74V	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	140					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						GTCCCCAGCTCTGCTGCTGCT	0.617																																																	0													91	76	81					16																	2201859		2197	4299	6496	SO:0001583	missense	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"RAB, member RAS oncogene"	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.418C>G	16.37:g.2201859C>G	ENSP00000210187:p.Leu140Val		B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L140V	ENST00000210187.6	37	c.418	CCDS10460.1	16	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730179	0.30684	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.78707	-1.2;-1.2	4.2	2.19	0.27852	Small GTP-binding protein domain (1);	0.000000	0.53938	D	0.000056	T	0.54854	0.1884	N	0.00277	-1.72	0.45330	D	0.998324	P	0.49447	0.924	P	0.56563	0.801	T	0.67094	-0.5757	10	0.87932	D	0	.	8.2558	0.31756	0.0:0.7534:0.1569:0.0897	.	140	Q9ULW5	RAB26_HUMAN	V	74;140	ENSP00000441580:L74V;ENSP00000210187:L140V	ENSP00000210187:L140V	L	+	1	2	RAB26	2141860	0.942000	0.31987	0.022000	0.16811	0.759000	0.43091	1.948000	0.40303	0.398000	0.25338	0.305000	0.20034	CTG	RAB26	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.617	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB26	HGNC	protein_coding	OTTHUMT00000250767.2	C			2201859	1	no_errors	ENST00000210187	ensembl	human	known	70_37	missense	SNP	0.603	G	G	2201859	C	G	2201859	3	3	160	1	0	0	0	0	1	0	0	0	12943	912	32	1	436	1	RAB26	16	2201859	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	40567	2201859	88152894	1664	29937										
CASKIN1	57524	genome.wustl.edu	37	chr16	2239141	2239141	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccgcacacatattgctgctGaggagcagctggaccacctt	11	13	0	1	rs368229690		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2239141G>A	ENST00000343516.6	-	6	596	c.504C>T	c.(502-504)ctC>ctT	p.L168L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	168					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TATTGCTGCTGAGGAGCAGCT	0.672																																																	0								G		0,3930		0,0,1965	36	41	39		504	-6.9	0.6	16		39	2,8256		0,2,4127	no	coding-synonymous	CASKIN1	NM_020764.3		0,2,6092	AA,AG,GG		0.0242,0.0,0.0164		168/1432	2239141	2,12186	1965	4129	6094	SO:0001819	synonymous_variant	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.504C>T	16.37:g.2239141G>A			Q9P2P0	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.L168	ENST00000343516.6	37	c.504	CCDS42103.1	16																																																																																			CASKIN1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	G	NM_020764		2239141	-1	no_errors	ENST00000343516	ensembl	human	known	70_37	silent	SNP	0.984	A	A	2239141	G	A	2239141	2	1	160	1	0	0	0	0	0	0	0	1	2671	1277	45	1		1	CASKIN1	16	2239141	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	37282	2239141	88115612	1665	29938										
DCI	1632	genome.wustl.edu	37	chr16	2293398	2293398	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtccgccaggatgcggtagtCacaggtcagggccaccaggc	15	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2293398C>T	ENST00000301729.4	-	5	531	c.484G>A	c.(484-486)Gac>Aac	p.D162N	RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000562238.1_Missense_Mutation_p.D162N|ECI1_ENST00000570258.1_Missense_Mutation_p.D103N	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	162					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						ATGCGGTAGTCACAGGTCAGG	0.642																																																	0													83	76	78					16																	2293398		2198	4300	6498	SO:0001583	missense	1632				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.484G>A	16.37:g.2293398C>T	ENSP00000301729:p.Asp162Asn		A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	pfam_Crotonase_core	p.D162N	ENST00000301729.4	37	c.484	CCDS10464.1	16	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765654	0.69878	.	.	ENSG00000167969	ENST00000301729	D	0.91577	-2.87	4.52	4.52	0.55395	Enoyl-CoA hydratase/isomerase, conserved site (1);Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96858	0.9630	10	0.87932	D	0	-47.8341	14.8019	0.69922	0.0:1.0:0.0:0.0	.	162;162	P42126-2;P42126	.;ECI1_HUMAN	N	162	ENSP00000301729:D162N	ENSP00000301729:D162N	D	-	1	0	ECI1	2233399	1.000000	0.71417	0.625000	0.29200	0.004000	0.04260	4.780000	0.62382	2.350000	0.79820	0.591000	0.81541	GAC	ECI1	-	pfam_Crotonase_core		0.642	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	HGNC	protein_coding	OTTHUMT00000250768.1	C			2293398	-1	no_errors	ENST00000301729	ensembl	human	known	70_37	missense	SNP	0.999	T	T	2293398	C	T	2293398	3	4	160	1	0	0	0	0	1	0	0	0	4294	826	29	1	436	1	DCI	16	2293398	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	54257	2293398	88061355	1666	29939										
CCNF	899	genome.wustl.edu	37	chr16	2503298	2503298	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacaagcgctatggagaaatCagccaggaagaggtgcctcc	13	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2503298C>T	ENST00000397066.4	+	14	1663	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	RP11-715J22.4_ENST00000566085.1_lincRNA|RP11-715J22.3_ENST00000561653.1_RNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	525					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATGGAGAAATCAGCCAGGAAG	0.622																																																	0													70	71	70					16																	2503298		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1575C>T	16.37:g.2503298C>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.I525	ENST00000397066.4	37	c.1575	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like		0.622	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	C	NM_001761		2503298	1	no_errors	ENST00000397066	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2503298	C	T	2503298	2	4	160	1	0	0	0	0	0	0	0	1	2927	816	29	1		1	CCNF	16	2503298	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	209900	2503298	87851455	1667	29940										
ZG16B	124220	genome.wustl.edu	37	chr16	2881978	2881978	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttctattttgggaagcttGatggccagatctcctctgcc	9	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:2881978G>C	ENST00000382280.3	+	4	524	c.445G>C	c.(445-447)Gat>Cat	p.D149H	ZG16B_ENST00000572863.1_Missense_Mutation_p.D119H	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	149					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGGAAGCTTGATGGCCAGAT	0.517																																																	0													63	66	65					16																	2881978		1963	4159	6122	SO:0001583	missense	124220			BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.445G>C	16.37:g.2881978G>C	ENSP00000371715:p.Asp149His		A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin	p.D149H	ENST00000382280.3	37	c.445	CCDS10479.2	16	.	.	.	.	.	.	.	.	.	.	g	12.16	1.853307	0.32699	.	.	ENSG00000162078	ENST00000382280	T	0.30714	1.52	3.2	-0.477	0.12097	Mannose-binding lectin (3);	4.056830	0.00846	N	0.001792	T	0.30039	0.0752	L	0.29908	0.895	0.09310	N	1	D	0.57899	0.981	P	0.49226	0.603	T	0.18335	-1.0340	10	0.48119	T	0.1	8.7335	5.645	0.17584	0.4837:0.0:0.5163:0.0	.	149	Q96DA0	ZG16B_HUMAN	H	149	ENSP00000371715:D149H	ENSP00000371715:D149H	D	+	1	0	ZG16B	2821979	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.359000	0.02602	-0.055000	0.13244	0.556000	0.70494	GAT	ZG16B	-	superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin		0.517	ZG16B-001	KNOWN	basic|CCDS	protein_coding	ZG16B	HGNC	protein_coding	OTTHUMT00000250912.1	G	NM_145252		2881978	1	no_errors	ENST00000382280	ensembl	human	known	70_37	missense	SNP	0.000	C	C	2881978	G	C	2881978	3	2	160	1	0	0	0	0	1	0	0	0	17702	1290	45	1	459	1	ZG16B	16	2881978	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	378680	2881978	87472775	1668	29941										
CLDN6	9074	genome.wustl.edu	37	chr16	3065630	3065630	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcacacggggattagcgtCaggacccctgagatgacaaa	12	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3065630C>G	ENST00000396925.1	-	3	821	c.393G>C	c.(391-393)ctG>ctC	p.L131L	CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Silent_p.L131L			P56747	CLD6_HUMAN	claudin 6	131					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGATTAGCGTCAGGACCCCTG	0.612																																																	0													31	32	31					16																	3065630		2198	4299	6497	SO:0001819	synonymous_variant	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.393G>C	16.37:g.3065630C>G			B3KQP9|D3DUA5	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.L131	ENST00000396925.1	37	c.393	CCDS10488.1	16																																																																																			CLDN6	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6		0.612	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	C	NM_021195		3065630	-1	no_errors	ENST00000328796	ensembl	human	known	70_37	silent	SNP	0.952	G	G	3065630	C	G	3065630	2	3	160	1	0	0	0	0	0	0	0	1	3494	813	29	1		1	CLDN6	16	3065630	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	183652	3065630	87289123	1669	29942										
CCDC64B	146439	genome.wustl.edu	37	chr16	3080597	3080597	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggctctgcagcatctggttCtggggaaaggcctgagagct	15	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3080597C>T	ENST00000572449.1	-	5	678		c.e5-1		CCDC64B_ENST00000389347.4_Splice_Site|RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000573514.1_Splice_Site			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B											breast(1)|endometrium(2)|large_intestine(1)	4						GCATCTGGTTCTGGGGAAAGG	0.657																																																	0													16	19	18					16																	3080597		1934	4127	6061	SO:0001630	splice_region_variant	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.616-1G>A	16.37:g.3080597C>T			Q658L9	Splice_Site	SNP	-	e4-1	ENST00000572449.1	37	c.616-1	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362228	0.24684	.	.	ENSG00000162069	ENST00000389347	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1197	0.81342	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC64B	3020598	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.605000	0.67634	2.420000	0.82092	0.491000	0.48974	.	CCDC64B	-	-		0.657	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	C		Intron	3080597	-1	no_errors	ENST00000389347	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	3080597	C	T	3080597	5	4	160	1	0	0	0	0	0	0	1	0	2841	927	32	1	935	1	CCDC64B	16	3080597	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	14967	3080597	87274156	1670	29943										
ZSCAN10	84891	genome.wustl.edu	37	chr16	3140190	3140190	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcttgctcaggtgcgagctCtggcggaagcggtggccgca	17	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3140190C>G	ENST00000252463.2	-	5	1167	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.Q21H|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.Q278H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	360					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGTGCGAGCTCTGGCGGAAGC	0.692																																																	0													32	40	37					16																	3140190		2140	4191	6331	SO:0001583	missense	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1080G>C	16.37:g.3140190C>G	ENSP00000252463:p.Gln360His		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q360H	ENST00000252463.2	37	c.1080	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104948	0.37145	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.76578	-1.03	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000236	T	0.81616	0.4860	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.80764	0.994;0.992;0.979	T	0.79090	-0.1946	10	0.33141	T	0.24	-40.882	10.2357	0.43282	0.0:0.9104:0.0:0.0896	.	21;293;360	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	293;360	ENSP00000252463:Q360H	ENSP00000252463:Q360H	Q	-	3	2	ZSCAN10	3080191	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.411000	0.07142	2.561000	0.86390	0.563000	0.77884	CAG	ZSCAN10	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.692	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	C	NM_032805		3140190	-1	no_errors	ENST00000252463	ensembl	human	known	70_37	missense	SNP	0.914	G	G	3140190	C	G	3140190	3	3	160	1	0	0	0	0	1	0	0	0	18257	912	32	1	1101	1	ZSCAN10	16	3140190	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	59593	3140190	87214563	1671	29944										
MEFV	4210	genome.wustl.edu	37	chr16	3297155	3297155	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctggcccacgtcctccagtGaggccacaaagaaatgctct	9	14	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3297155G>A	ENST00000219596.1	-	5	1487	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	MEFV_ENST00000339854.4_Missense_Mutation_p.S303L|MEFV_ENST00000541159.1_Missense_Mutation_p.S272L|MEFV_ENST00000536379.1_Missense_Mutation_p.S272L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	483	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTCCTCCAGTGAGGCCACAAA	0.577																																																	0													175	160	165					16																	3297155		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1448C>T	16.37:g.3297155G>A	ENSP00000219596:p.Ser483Leu		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.S483L	ENST00000219596.1	37	c.1448	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	G	6.351	0.432930	0.12045	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64085	-0.08;0.35;0.27;0.35	5.29	3.33	0.38152	.	0.289542	0.25414	N	0.030851	T	0.46600	0.1401	L	0.41236	1.265	0.23506	N	0.997538	B	0.29716	0.255	B	0.24394	0.053	T	0.27157	-1.0082	10	0.28530	T	0.3	-22.8213	7.6411	0.28294	0.0:0.5444:0.3682:0.0874	.	483	O15553	MEFV_HUMAN	L	483;483;303;272;272;272	ENSP00000219596:S483L;ENSP00000339639:S303L;ENSP00000438711:S272L;ENSP00000445079:S272L	ENSP00000219596:S483L	S	-	2	0	MEFV	3237156	0.002000	0.14202	0.708000	0.30435	0.020000	0.10135	0.125000	0.15749	0.803000	0.34113	-0.165000	0.13383	TCA	MEFV	-	NULL		0.577	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	G	NM_000243		3297155	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.505	A	A	3297155	G	A	3297155	3	1	160	1	0	0	0	0	1	0	0	0	9482	1294	45	1	921	1	MEFV	16	3297155	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	156965	3297155	87057598	1672	29945										
BTBD12	84464	genome.wustl.edu	37	chr16	3639021	3639021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actgggtgtctctaacccttCgggcttctgagctccaccag	10	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:3639021C>T	ENST00000294008.3	-	12	5258	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1540	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTAACCCTTCGGGCTTCTGA	0.572								Direct reversal of damage																																									0													119	135	129					16																	3639021		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4618G>A	16.37:g.3639021C>T	ENSP00000294008:p.Glu1540Lys		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E1540K	ENST00000294008.3	37	c.4618	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342268	0.24339	.	.	ENSG00000188827	ENST00000294008	T	0.01192	5.2	5.45	1.32	0.21799	.	0.800980	0.11478	N	0.560025	T	0.00845	0.0028	N	0.13235	0.315	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48352	-0.9043	10	0.21540	T	0.41	.	6.8064	0.23780	0.0:0.701:0.1333:0.1656	.	1540	Q8IY92	SLX4_HUMAN	K	1540	ENSP00000294008:E1540K	ENSP00000294008:E1540K	E	-	1	0	SLX4	3579022	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.393000	0.20817	0.091000	0.17302	-1.202000	0.01658	GAA	SLX4	-	NULL		0.572	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	C	NM_032444		3639021	-1	no_errors	ENST00000294008	ensembl	human	known	70_37	missense	SNP	0.001	T	T	3639021	C	T	3639021	3	4	160	1	0	0	0	0	1	0	0	0	1543	893	31	1	902	1	BTBD12	16	3639021	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	341866	3639021	86715732	1673	29946										
CORO7	79585	genome.wustl.edu	37	chr16	4409516	4409516	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccaggccagtgtctgggtCgtagctgggcagcagggttg	17	10	1	0	rs142159766		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4409516C>G	ENST00000251166.4	-	22	2360	c.2215G>C	c.(2215-2217)Gac>Cac	p.D739H	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D739H|CORO7_ENST00000539968.1_Missense_Mutation_p.D519H|CORO7_ENST00000574025.1_Missense_Mutation_p.D654H|CORO7_ENST00000537233.2_Missense_Mutation_p.D721H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	739					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTGTCTGGGTCGTAGCTGGGC	0.677											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	38	37					16																	4409516		2197	4298	6495	SO:0001583	missense	100529144			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2215G>C	16.37:g.4409516C>G	ENSP00000251166:p.Asp739His	618	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D739H	ENST00000251166.4	37	c.2215	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227547	0.39399	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.57752	0.38;0.38	5.61	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.099699	0.64402	D	0.000002	T	0.81128	0.4758	H	0.95982	3.75	0.80722	D	1	B;B;B;D;B	0.89917	0.051;0.002;0.062;1.0;0.032	B;B;B;D;B	0.91635	0.099;0.01;0.274;0.999;0.081	D	0.87518	0.2444	10	0.72032	D	0.01	-18.3921	15.4988	0.75680	0.1399:0.8601:0.0:0.0	.	654;721;519;739;720	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	739;654;519	ENSP00000251166:D739H;ENSP00000446221:D519H	ENSP00000251166:D739H	D	-	1	0	CORO7	4349517	1.000000	0.71417	0.898000	0.35279	0.001000	0.01503	5.284000	0.65627	1.357000	0.45904	-0.181000	0.13052	GAC	CORO7-PAM16	-	pfam_DUF1900		0.677	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	C	NM_024535		4409516	-1	no_errors	ENST00000572467	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4409516	C	G	4409516	3	3	160	1	0	0	0	0	1	0	0	0	3764	884	31	1	590	1	CORO7	16	4409516	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	770495	4409516	85945237	1674	29947										
VASN	114990	genome.wustl.edu	37	chr16	4431256	4431256	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccgtggcctgcggcgcctCgagcgcctctacctgggcaa	13	16	1	0	rs563318292		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4431256C>T	ENST00000304735.3	+	2	533	c.378C>T	c.(376-378)ctC>ctT	p.L126L	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	126				Missing (in Ref. 2; AAQ88665). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCGGCGCCTCGAGCGCCTCT	0.637													C|||	1	0.000199681	0	0.0014	5008	,	,		14447	0		0	False		,,,				2504	0																0													26	24	24					16																	4431256		2193	4298	6491	SO:0001819	synonymous_variant	114990			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.378C>T	16.37:g.4431256C>T			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L126	ENST00000304735.3	37	c.378	CCDS10514.1	16																																																																																			VASN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.637	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	HGNC	protein_coding	OTTHUMT00000251632.1	C	NM_138440		4431256	1	no_errors	ENST00000304735	ensembl	human	known	70_37	silent	SNP	0.058	T	T	4431256	C	T	4431256	2	4	160	1	0	0	0	0	0	0	0	1	17158	871	31	1		1	VASN	16	4431256	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	21740	4431256	85923497	1675	29948										
SEPT12	124404	genome.wustl.edu	37	chr16	4827818	4827818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcagaactcatcatcagaatCgtcatgggcccccctgcaga	8	14	5	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4827818C>T	ENST00000268231.8	-	10	1320	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SEPT12_ENST00000396693.5_Missense_Mutation_p.D307N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	353					cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCATCAGAATCGTCATGGGCC	0.662																																																	0													12	14	13					16																	4827818		2174	4262	6436	SO:0001583	missense	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.1057G>A	16.37:g.4827818C>T	ENSP00000268231:p.Asp353Asn		Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.D353N	ENST00000268231.8	37	c.1057	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928896	0.18131	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.51574	0.71;0.7	4.45	0.984	0.19773	.	3.120170	0.01293	N	0.010076	T	0.30823	0.0777	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.28138	-1.0053	10	0.54805	T	0.06	.	7.4229	0.27081	0.0:0.593:0.0:0.407	.	307;353	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	N	307;353	ENSP00000379922:D307N;ENSP00000268231:D353N	ENSP00000268231:D353N	D	-	1	0	SEPT12	4767819	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.079000	0.11357	0.085000	0.17107	0.561000	0.74099	GAT	SEPT12	-	pirsf_Septin		0.662	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4827818	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4827818	C	T	4827818	3	4	160	1	0	0	0	0	1	0	0	0	14092	884	31	1	23	1	SEPT12	16	4827818	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	396562	4827818	85526935	1676	29949										
SEPT12	124404	genome.wustl.edu	37	chr16	4835864	4835864	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgtccgtcaccgtcagcttCagcttcacacccttctcctc	6	18	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4835864C>A	ENST00000268231.8	-	4	581	c.318G>T	c.(316-318)ctG>ctT	p.L106L	SEPT12_ENST00000396693.5_Silent_p.L106L|SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589327.1_5'Flank|SMIM22_ENST00000589721.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	106	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCGTCAGCTTCAGCTTCACAC	0.552																																																	0													83	80	81					16																	4835864		2197	4300	6497	SO:0001819	synonymous_variant	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.318G>T	16.37:g.4835864C>A			Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.L106	ENST00000268231.8	37	c.318	CCDS10522.1	16																																																																																			SEPT12	-	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin		0.552	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4835864	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4835864	C	A	4835864	2	1	160	1	0	0	0	0	0	0	0	1	14092	813	29	3		3	SEPT12	16	4835864	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	8046	4835864	85518889	1677	29950										
GLYR1	84656	genome.wustl.edu	37	chr16	4882065	4882065	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atttggagcctctctctgaaGagcctgaagacaccctcttc	8	13	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:4882065G>C	ENST00000321919.9	-	5	528	c.452C>G	c.(451-453)tCt>tGt	p.S151C	GLYR1_ENST00000591451.1_Missense_Mutation_p.S151C|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.S151C	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	151					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTCTCTGAAGAGCCTGAAGA	0.517																																																	0													130	125	127					16																	4882065		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.452C>G	16.37:g.4882065G>C	ENSP00000322716:p.Ser151Cys		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.S151C	ENST00000321919.9	37	c.452	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457448	0.63401	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.65178	-0.13;-0.14	5.29	5.29	0.74685	.	0.289778	0.36200	N	0.002722	T	0.54240	0.1846	N	0.14661	0.345	0.42555	D	0.993126	P;P;P	0.48640	0.913;0.805;0.859	P;B;B	0.46585	0.521;0.394;0.322	T	0.63287	-0.6671	10	0.87932	D	0	-3.8116	18.0706	0.89405	0.0:0.0:1.0:0.0	.	151;151;151	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	C	151	ENSP00000322716:S151C;ENSP00000371413:S151C	ENSP00000322716:S151C	S	-	2	0	GLYR1	4822066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.770000	0.74990	2.634000	0.89283	0.650000	0.86243	TCT	GLYR1	-	NULL		0.517	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	G	NM_032569		4882065	-1	no_errors	ENST00000321919	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4882065	G	C	4882065	3	2	160	1	0	0	0	0	1	0	0	0	6502	942	33	1	1257	1	GLYR1	16	4882065	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	46201	4882065	85472688	1678	29951										
ALG1	56052	genome.wustl.edu	37	chr16	5125483	5125483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggcacaactatggctactCcatcatgggtctggtgcatg	11	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:5125483C>A	ENST00000262374.5	+	4	516	c.485C>A	c.(484-486)tCc>tAc	p.S162Y	ALG1_ENST00000544428.1_Missense_Mutation_p.S51Y|ALG1_ENST00000588623.1_Missense_Mutation_p.S51Y	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	162					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TATGGCTACTCCATCATGGGT	0.552																																																	0													144	122	129					16																	5125483		2197	4300	6497	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.485C>A	16.37:g.5125483C>A	ENSP00000262374:p.Ser162Tyr		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.S162Y	ENST00000262374.5	37	c.485	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548971	0.86127	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.84730	-1.89;-1.89	5.7	4.75	0.60458	.	0.215941	0.47852	D	0.000214	D	0.92084	0.7491	M	0.89715	3.055	0.58432	D	0.999997	D;D	0.63880	0.986;0.993	P;P	0.61201	0.778;0.885	D	0.92928	0.6361	10	0.87932	D	0	-23.7881	11.7654	0.51928	0.0:0.9157:0.0:0.0843	.	51;162	B4DP08;Q9BT22	.;ALG1_HUMAN	Y	162;51	ENSP00000262374:S162Y;ENSP00000440019:S51Y	ENSP00000262374:S162Y	S	+	2	0	ALG1	5065484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.200000	0.58433	2.712000	0.92718	0.644000	0.83932	TCC	ALG1	-	NULL		0.552	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	C	NM_019109		5125483	1	no_errors	ENST00000262374	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5125483	C	A	5125483	3	1	160	1	0	0	0	0	1	0	0	0	510	855	30	3	499	3	ALG1	16	5125483	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	243418	5125483	85229270	1679	29952										
CLEC16A	23274	genome.wustl.edu	37	chr16	11097066	11097066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggggaagaagaagatgagGagaaagggcccaccgaggat	17	5	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11097066G>A	ENST00000409790.1	+	11	1437	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	CLEC16A_ENST00000409552.3_Missense_Mutation_p.E401K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGAAGATGAGGAGAAAGGGCC	0.537																																																	0													75	81	79					16																	11097066		1970	4132	6102	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1207G>A	16.37:g.11097066G>A	ENSP00000387122:p.Glu403Lys			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.E403K	ENST00000409790.1	37	c.1207	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592199	0.46214	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.44482	0.92	5.62	5.62	0.85841	.	0.232288	0.45867	D	0.000337	T	0.29652	0.0740	N	0.22421	0.69	0.80722	D	1	B;B	0.15473	0.013;0.01	B;B	0.13407	0.006;0.009	T	0.13710	-1.0499	10	0.06494	T	0.89	-23.9552	18.6399	0.91392	0.0:0.0:1.0:0.0	.	403;401	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	K	403;403;401	ENSP00000387122:E403K	ENSP00000386495:E401K	E	+	1	0	CLEC16A	11004567	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.418000	0.66429	2.662000	0.90505	0.655000	0.94253	GAG	CLEC16A	-	NULL		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	G	NM_015226		11097066	1	no_errors	ENST00000409790	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11097066	G	A	11097066	3	1	160	1	0	0	0	0	1	0	0	0	3505	1175	41	1	1245	1	CLEC16A	16	11097066	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5971583	11097066	79257687	1680	29953										
TNP2	7142	genome.wustl.edu	37	chr16	11362926	11362926	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctggctctggtggccggatGagctgtgggctccagttggg	18	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11362926G>C	ENST00000312693.3	-	1	263	c.194C>G	c.(193-195)tCa>tGa	p.S65*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	65					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTGGCCGGATGAGCTGTGGGC	0.622																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											140	155	150					16																	11362926		2079	4218	6297	SO:0001587	stop_gained	7142				CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.194C>G	16.37:g.11362926G>C	ENSP00000325738:p.Ser65*		Q9NZB0	Nonsense_Mutation	SNP	pfam_TP2	p.S65*	ENST00000312693.3	37	c.194	CCDS45410.1	16	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938157	0.52972	.	.	ENSG00000178279	ENST00000312693	.	.	.	3.2	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	4.7067	0.12853	0.1985:0.0:0.8015:0.0	.	.	.	.	X	65	.	ENSP00000325738:S65X	S	-	2	0	TNP2	11270427	0.000000	0.05858	0.044000	0.18714	0.025000	0.11179	0.193000	0.17116	0.840000	0.34995	0.555000	0.69702	TCA	TNP2	-	pfam_TP2		0.622	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNP2	HGNC	protein_coding	OTTHUMT00000417806.1	G	NM_005425		11362926	-1	no_errors	ENST00000312693	ensembl	human	known	70_37	nonsense	SNP	0.052	C	C	11362926	G	C	11362926	4	2	160	1	0	0	0	0	0	1	0	0	16364	1294	45	1	230	1	TNP2	16	11362926	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	265860	11362926	78991827	1681	29954										
GSPT1	2935	genome.wustl.edu	37	chr16	11984953	11984953	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctctttagcttctctttCatacttttcaagcgtccttt	3	11	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:11984953C>G	ENST00000563468.1	-	4	354	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	GSPT1_ENST00000439887.2_Missense_Mutation_p.E247Q|GSPT1_ENST00000434724.2_Missense_Mutation_p.E248Q|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Missense_Mutation_p.E110Q			P15170	ERF3A_HUMAN	G1 to S phase transition 1	110	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GCTTCTCTTTCATACTTTTCA	0.313																																																	0													111	96	101					16																	11984953		1741	3946	5687	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.328G>C	16.37:g.11984953C>G	ENSP00000454351:p.Glu110Gln		J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.E248Q	ENST00000563468.1	37	c.742	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144090	0.77888	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.45276	0.9;0.9;0.9	5.44	4.49	0.54785	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	U	0.000000	T	0.55752	0.1940	M	0.70595	2.14	0.80722	D	1	D;D;B	0.53462	0.96;0.96;0.398	P;P;P	0.54924	0.764;0.764;0.571	T	0.61327	-0.7085	10	0.87932	D	0	-12.6486	12.7798	0.57471	0.0:0.9205:0.0:0.0795	.	247;244;110	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	Q	248;247;110	ENSP00000398131:E248Q;ENSP00000408399:E247Q;ENSP00000399539:E110Q	ENSP00000399539:E110Q	E	-	1	0	GSPT1	11892454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	1.304000	0.44892	0.650000	0.86243	GAA	GSPT1	-	pfam_EF_GTP-bd_dom		0.313	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	C	NM_002094		11984953	-1	no_errors	ENST00000434724	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11984953	C	G	11984953	3	3	160	1	0	0	0	0	1	0	0	0	6846	835	29	1	1211	1	GSPT1	16	11984953	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	622027	11984953	78369800	1682	29955										
BFAR	51283	genome.wustl.edu	37	chr16	14761513	14761513	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgtgcctcagaggatgtgGagccatttctggaaagtatc	12	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:14761513G>C	ENST00000261658.2	+	8	1459	c.1182G>C	c.(1180-1182)tgG>tgC	p.W394C	BFAR_ENST00000563971.1_Missense_Mutation_p.W269C|BFAR_ENST00000426842.2_Missense_Mutation_p.W266C|BFAR_ENST00000563082.1_3'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	394					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGAGGATGTGGAGCCATTTCT	0.537																																																	0													132	130	131					16																	14761513		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1182G>C	16.37:g.14761513G>C	ENSP00000261658:p.Trp394Cys		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.W394C	ENST00000261658.2	37	c.1182	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312593	0.81358	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.51817	3.04;0.69	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.997	T	0.62539	-0.6833	10	0.87932	D	0	.	18.7875	0.91961	0.0:0.0:1.0:0.0	.	266;394;394	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	C	394;266	ENSP00000261658:W394C;ENSP00000400634:W266C	ENSP00000261658:W394C	W	+	3	0	BFAR	14669014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.593000	0.98250	2.673000	0.90976	0.563000	0.77884	TGG	BFAR	-	NULL		0.537	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	G	NM_016561		14761513	1	no_errors	ENST00000261658	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14761513	G	C	14761513	3	2	160	1	0	0	0	0	1	0	0	0	1415	1183	41	1	1208	1	BFAR	16	14761513	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2776560	14761513	75593240	1683	29956										
MYH11	4629	genome.wustl.edu	37	chr16	15814867	15814867	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcgtcttcatctcctccatCtgggtctccagggcccgctt	9	16	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:15814867C>G	ENST00000300036.5	-	33	4729	c.4620G>C	c.(4618-4620)caG>caC	p.Q1540H	MYH11_ENST00000452625.2_Missense_Mutation_p.Q1547H|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.Q1547H|MYH11_ENST00000576790.2_Missense_Mutation_p.Q1540H|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1540					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCCTCCATCTGGGTCTCCA	0.597			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													77	75	76					16																	15814867		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4620G>C	16.37:g.15814867C>G	ENSP00000300036:p.Gln1540His		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1547H	ENST00000300036.5	37	c.4641	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527781	0.64860	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.97	4.02	0.46733	Myosin tail (1);	0.134561	0.51477	D	0.000099	D	0.85656	0.5747	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D	0.67145	0.996;0.985;0.985;0.985;0.996	D;D;D;D;D	0.67382	0.95;0.95;0.95;0.928;0.951	D	0.85476	0.1176	10	0.87932	D	0	.	6.6711	0.23068	0.0:0.715:0.0:0.285	.	1547;1540;1547;1540;1547	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	H	1540;1540;1547;1547;1547	ENSP00000300036:Q1540H;ENSP00000345136:Q1540H;ENSP00000379616:Q1547H;ENSP00000407821:Q1547H	ENSP00000300036:Q1540H	Q	-	3	2	MYH11	15722368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.246000	0.32803	1.096000	0.41439	0.561000	0.74099	CAG	MYH11	-	pfam_Myosin_tail,superfamily_Prefoldin		0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	C	NM_001040113		15814867	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15814867	C	G	15814867	3	3	160	1	0	0	0	0	1	0	0	0	10054	912	32	1	1369	1	MYH11	16	15814867	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1053354	15814867	74539886	1684	29957										
TMC7	79905	genome.wustl.edu	37	chr16	19020719	19020719	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaattatgcactgaacatctCtgagaagcggagactaaggt	10	7	1	3	rs537147080		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:19020719C>G	ENST00000304381.5	+	2	423	c.293C>G	c.(292-294)tCt>tGt	p.S98C	TMC7_ENST00000569532.1_Missense_Mutation_p.S98C|TMC7_ENST00000421369.3_5'UTR|RNU6-1340P_ENST00000384438.1_RNA	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	98					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGAACATCTCTGAGAAGCGG	0.468																																																	0													93	95	94					16																	19020719		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.293C>G	16.37:g.19020719C>G	ENSP00000304710:p.Ser98Cys		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.S98C	ENST00000304381.5	37	c.293	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895930	0.72639	.	.	ENSG00000170537	ENST00000304381	T	0.52057	0.68	5.83	5.83	0.93111	.	0.353030	0.29587	N	0.011734	T	0.64316	0.2587	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.72075	0.976;0.894;0.912	T	0.64101	-0.6486	10	0.62326	D	0.03	.	15.6163	0.76769	0.0:1.0:0.0:0.0	.	98;98;98	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	C	98	ENSP00000304710:S98C	ENSP00000304710:S98C	S	+	2	0	TMC7	18928220	0.968000	0.33430	0.971000	0.41717	0.933000	0.57130	2.560000	0.45896	2.756000	0.94617	0.655000	0.94253	TCT	TMC7	-	NULL		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	C	NM_024847		19020719	1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	0.995	G	G	19020719	C	G	19020719	3	3	160	1	0	0	0	0	1	0	0	0	16020	913	32	1	299	1	TMC7	16	19020719	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3205852	19020719	71334034	1685	29958										
DNAH3	55567	genome.wustl.edu	37	chr16	20975884	20975884	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catcctcatgtagttgctatCagagaacttgatgacagcca	8	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:20975884C>T	ENST00000261383.3	-	53	9321	c.9322G>A	c.(9322-9324)Gat>Aat	p.D3108N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3108	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGTTGCTATCAGAGAACTTG	0.468																																																	0													160	152	154					16																	20975884		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9322G>A	16.37:g.20975884C>T	ENSP00000261383:p.Asp3108Asn		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.D3108N	ENST00000261383.3	37	c.9322	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114119	0.56398	.	.	ENSG00000158486	ENST00000261383	T	0.21932	1.98	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52268	-0.8598	10	0.52906	T	0.07	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	3108	Q8TD57	DYH3_HUMAN	N	3108	ENSP00000261383:D3108N	ENSP00000261383:D3108N	D	-	1	0	DNAH3	20883385	1.000000	0.71417	0.134000	0.22075	0.005000	0.04900	5.997000	0.70646	2.830000	0.97506	0.655000	0.94253	GAT	DNAH3	-	NULL		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20975884	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20975884	C	T	20975884	3	4	160	1	0	0	0	0	1	0	0	0	4613	826	29	1	3067	1	DNAH3	16	20975884	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1955165	20975884	69378869	1686	29959										
DNAH3	55567	genome.wustl.edu	37	chr16	21053505	21053505	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgctgaggatctgctgagcGaccacagacagcacttctac	10	12	2	3	rs147257748		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:21053505G>A	ENST00000261383.3	-	32	4481	c.4482C>T	c.(4480-4482)gtC>gtT	p.V1494V	DNAH3_ENST00000415178.1_Silent_p.V1494V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1494	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTGCTGAGCGACCACAGACA	0.522													G|||	1	0.000199681	0	0.0014	5008	,	,		12877	0		0	False		,,,				2504	0																0								G		0,4402		0,0,2201	153	128	137		4482	-9.2	0.7	16	dbSNP_134	137	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DNAH3	NM_017539.1		0,3,6498	AA,AG,GG		0.0349,0.0,0.0231		1494/4117	21053505	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4482C>T	16.37:g.21053505G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.V1494	ENST00000261383.3	37	c.4482	CCDS10594.1	16																																																																																			DNAH3	-	smart_AAA+_ATPase		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21053505	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.588	A	A	21053505	G	A	21053505	2	1	160	1	0	0	0	0	0	0	0	1	4613	1045	37	1		1	DNAH3	16	21053505	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	77621	21053505	69301248	1687	29960										
USP31	57478	genome.wustl.edu	37	chr16	23119422	23119422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttgaggtcttcatgaactCggtccaaaagccacagcaga	11	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:23119422C>A	ENST00000219689.7	-	2	715	c.716G>T	c.(715-717)cGa>cTa	p.R239L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	192	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCATGAACTCGGTCCAAAAG	0.502																																																	0													100	93	95					16																	23119422		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.716G>T	16.37:g.23119422C>A	ENSP00000219689:p.Arg239Leu		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R239L	ENST00000219689.7	37	c.716	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.521519	0.96416	.	.	ENSG00000103404	ENST00000219689	T	0.31247	1.5	5.87	5.87	0.94306	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000003	T	0.49184	0.1542	L	0.41710	1.295	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.24368	-1.0162	10	0.40728	T	0.16	-8.2058	19.1942	0.93681	0.0:1.0:0.0:0.0	.	239	Q70CQ4	UBP31_HUMAN	L	239	ENSP00000219689:R239L	ENSP00000219689:R239L	R	-	2	0	USP31	23026923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.785000	0.95823	0.655000	0.94253	CGA	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.502	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	C	NM_020718		23119422	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23119422	C	A	23119422	3	1	160	1	0	0	0	0	1	0	0	0	17093	884	31	3	3402	3	USP31	16	23119422	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2065917	23119422	67235331	1688	29961										
IL21R	50615	genome.wustl.edu	37	chr16	27457337	27457337	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccccctcaggctatggaaGaagatatgggccgtccccag	12	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:27457337G>C	ENST00000337929.3	+	8	1268	c.795G>C	c.(793-795)aaG>aaC	p.K265N	IL21R_ENST00000395754.4_Missense_Mutation_p.K265N|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.K265N|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.K265N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	265					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCTATGGAAGAAGATATGGG	0.622			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													61	55	57					16																	27457337		2197	4300	6497	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.795G>C	16.37:g.27457337G>C	ENSP00000338010:p.Lys265Asn		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.K265N	ENST00000337929.3	37	c.795	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979037	0.34942	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.43688	0.94;0.94;0.94	4.24	0.944	0.19537	.	0.729680	0.12324	N	0.478984	T	0.39886	0.1095	M	0.73962	2.25	0.38063	D	0.936137	P	0.46512	0.879	B	0.41571	0.36	T	0.35425	-0.9789	10	0.30854	T	0.27	-8.8242	6.7813	0.23648	0.3273:0.0:0.6727:0.0	.	265	Q9HBE5	IL21R_HUMAN	N	265	ENSP00000338010:K265N;ENSP00000379104:K265N;ENSP00000379103:K265N	ENSP00000338010:K265N	K	+	3	2	IL21R	27364838	0.999000	0.42202	0.068000	0.19968	0.162000	0.22319	0.296000	0.19083	-0.076000	0.12775	0.561000	0.74099	AAG	IL21R	-	NULL		0.622	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	HGNC	protein_coding	OTTHUMT00000254578.2	G	NM_181078		27457337	1	no_errors	ENST00000337929	ensembl	human	known	70_37	missense	SNP	0.992	C	C	27457337	G	C	27457337	3	2	160	1	0	0	0	0	1	0	0	0	7691	933	33	1	821	1	IL21R	16	27457337	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4337915	27457337	62897416	1689	29962										
EIF3C	8663	genome.wustl.edu	37	chr16	28734509	28734509	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaccacagatgaggacaaGaaggcagccgagaagaaacg	12	11	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:28734509G>C	ENST00000331666.6	+	9	987	c.801G>C	c.(799-801)aaG>aaC	p.K267N	EIF3C_ENST00000565099.1_3'UTR|EIF3C_ENST00000564243.1_Missense_Mutation_p.K257N|EIF3C_ENST00000566866.1_Missense_Mutation_p.K267N|EIF3C_ENST00000395587.1_Missense_Mutation_p.K267N|EIF3C_ENST00000566501.1_Missense_Mutation_p.K267N					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						ATGAGGACAAGAAGGCAGCCG	0.557																																																	0													117	128	124					16																	28734509		2194	4281	6475	SO:0001583	missense	8663			U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.801G>C	16.37:g.28734509G>C	ENSP00000332604:p.Lys267Asn			Missense_Mutation	SNP	pfam_eIF3c_N,pfam_PCI_dom,smart_PCI_dom	p.K267N	ENST00000331666.6	37	c.801	CCDS10638.1	16	.	.	.	.	.	.	.	.	.	.	.	10.80	1.453730	0.26161	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985	.	.	.	4.1	1.58	0.23477	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.407969	0.22784	N	0.055684	T	0.43853	0.1266	L	0.39898	1.24	0.36426	D	0.86462	P;B;P	0.36010	0.532;0.379;0.532	B;B;B	0.42827	0.399;0.061;0.399	T	0.44112	-0.9349	9	0.32370	T	0.25	.	6.8925	0.24236	0.3003:0.0:0.6997:0.0	.	257;53;267	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	N	267;267;252	.	ENSP00000332604:K267N	K	+	3	2	EIF3C	28642010	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	0.461000	0.21940	0.736000	0.32559	0.447000	0.29281	AAG	EIF3C	-	pfam_eIF3c_N		0.557	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3C	HGNC	protein_coding	OTTHUMT00000216908.3	G	NM_003752		28734509	1	no_errors	ENST00000331666	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28734509	G	C	28734509	3	2	160	1	0	0	0	0	1	0	0	0	5024	933	33	1	3656	1	EIF3C	16	28734509	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1277172	28734509	61620244	1690	29963										
QPRT	23475	genome.wustl.edu	37	chr16	29706186	29706186	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaactcaactgccaagtctCctggttcctccccgagggat	8	16	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29706186C>G	ENST00000395384.4	+	2	376	c.215C>G	c.(214-216)tCc>tGc	p.S72C	QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	72					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGCCAAGTCTCCTGGTTCCTC	0.672																																																	0													69	71	70					16																	29706186		2197	4300	6497	SO:0001583	missense	23475			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.215C>G	16.37:g.29706186C>G	ENSP00000378782:p.Ser72Cys		Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	pfam_Quinolinate_PRibosylTrfase_C,pfam_Quinolinate_PRibosylTrfase_N,superfamily_Quinolinate_PRibosylTrfase_C,tigrfam_NadC	p.S72C	ENST00000395384.4	37	c.215	CCDS10651.1	16	.	.	.	.	.	.	.	.	.	.	.	16.23	3.065742	0.55539	.	.	ENSG00000103485	ENST00000449759;ENST00000395384	T	0.32515	1.45	4.75	4.75	0.60458	Quinolinate phosphoribosyl transferase, N-terminal (2);	0.548055	0.18226	N	0.147720	T	0.40862	0.1134	L	0.60455	1.87	0.33961	D	0.645666	D	0.63880	0.993	P	0.52598	0.703	T	0.58014	-0.7711	10	0.87932	D	0	-25.516	10.8342	0.46677	0.1889:0.8111:0.0:0.0	.	72	Q15274	NADC_HUMAN	C	72	ENSP00000378782:S72C	ENSP00000378782:S72C	S	+	2	0	QPRT	29613687	0.002000	0.14202	0.993000	0.49108	0.681000	0.39784	1.073000	0.30691	2.340000	0.79590	0.546000	0.68486	TCC	QPRT	-	pfam_Quinolinate_PRibosylTrfase_N,tigrfam_NadC		0.672	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPRT	HGNC	protein_coding	OTTHUMT00000215011.2	C	NM_014298		29706186	1	no_errors	ENST00000395384	ensembl	human	known	70_37	missense	SNP	0.503	G	G	29706186	C	G	29706186	3	3	160	1	0	0	0	0	1	0	0	0	12906	855	30	1	221	1	QPRT	16	29706186	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	971677	29706186	60648567	1691	29964										
KIF22	3835	genome.wustl.edu	37	chr16	29802097	29802097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaatggccgcgggcggctCgacgcagcagaggcgacgcg	19	12	0	1	rs368873294		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29802097C>T	ENST00000160827.4	+	1	57	c.17C>T	c.(16-18)tCg>tTg	p.S6L	KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000400751.5_5'Flank|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	6					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCGGGCGGCTCGACGCAGCAG	0.672																																																	0								C	LEU/SER	2,4336		0,2,2167	12	18	16		17	-1.5	0	16		16	0,8564		0,0,4282	no	missense	KIF22	NM_007317.1	145	0,2,6449	TT,TC,CC		0.0,0.0461,0.0155	benign	6/666	29802097	2,12900	2169	4282	6451	SO:0001583	missense	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.17C>T	16.37:g.29802097C>T	ENSP00000160827:p.Ser6Leu		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S6L	ENST00000160827.4	37	c.17	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030843	0.35797	4.61E-4	0.0	ENSG00000079616	ENST00000160827	T	0.73047	-0.71	4.31	-1.55	0.08558	.	.	.	.	.	T	0.43700	0.1259	N	0.08118	0	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	9	0.59425	D	0.04	.	2.5885	0.04837	0.2943:0.3273:0.2871:0.0913	.	6	Q14807	KIF22_HUMAN	L	6	ENSP00000160827:S6L	ENSP00000160827:S6L	S	+	2	0	KIF22	29709598	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.124000	0.10595	-0.196000	0.10366	-0.169000	0.13324	TCG	KIF22	-	NULL		0.672	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	C			29802097	1	no_errors	ENST00000160827	ensembl	human	known	70_37	missense	SNP	0.000	T	T	29802097	C	T	29802097	3	4	160	1	0	0	0	0	1	0	0	0	8310	893	31	1	19	1	KIF22	16	29802097	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	95911	29802097	60552656	1692	29965										
KIF22	3835	genome.wustl.edu	37	chr16	29816249	29816249	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaatactggatctgctgaacGaaggctcagcccgagatctc	10	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29816249G>C	ENST00000160827.4	+	12	1832	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q	MAZ_ENST00000562337.1_5'Flank|MAZ_ENST00000219782.6_5'Flank|KIF22_ENST00000569382.2_Missense_Mutation_p.E544Q|KIF22_ENST00000561482.1_Missense_Mutation_p.E530Q|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000322945.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000566906.2_5'Flank|KIF22_ENST00000400751.5_Missense_Mutation_p.E530Q	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	598					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCTGCTGAACGAAGGCTCAGC	0.612																																																	0													46	46	46					16																	29816249		2197	4296	6493	SO:0001583	missense	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1792G>C	16.37:g.29816249G>C	ENSP00000160827:p.Glu598Gln		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E598Q	ENST00000160827.4	37	c.1792	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770610	0.31320	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73789	-0.7;-0.78	5.5	-0.636	0.11508	.	.	.	.	.	T	0.43277	0.1240	N	0.03000	-0.44	0.09310	N	0.999992	B;B	0.29766	0.07;0.256	B;B	0.25140	0.042;0.058	T	0.31251	-0.9950	9	0.31617	T	0.26	.	4.7065	0.12853	0.5235:0.1698:0.3067:0.0	.	530;598	B7Z265;Q14807	.;KIF22_HUMAN	Q	598;530	ENSP00000160827:E598Q;ENSP00000383562:E530Q	ENSP00000160827:E598Q	E	+	1	0	KIF22	29723750	0.004000	0.15560	0.213000	0.23690	0.927000	0.56198	0.233000	0.17911	0.230000	0.21059	0.561000	0.74099	GAA	KIF22	-	superfamily_RuvA_2-like		0.612	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	G			29816249	1	no_errors	ENST00000160827	ensembl	human	known	70_37	missense	SNP	0.022	C	C	29816249	G	C	29816249	3	2	160	1	0	0	0	0	1	0	0	0	8310	1059	37	1	1838	1	KIF22	16	29816249	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	14152	29816249	60538504	1693	29966										
MVP	9961	genome.wustl.edu	37	chr16	29841880	29841880	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taggagtcaccatggcaactGaagagttcatcatccgcatc	9	11	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29841880G>A	ENST00000357402.5	+	2	148	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	MVP_ENST00000395353.1_Missense_Mutation_p.E4K|MVP_ENST00000452209.2_5'UTR|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	4					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CATGGCAACTGAAGAGTTCAT	0.582																																																	0													175	129	145					16																	29841880		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.10G>A	16.37:g.29841880G>A	ENSP00000349977:p.Glu4Lys		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.E4K	ENST00000357402.5	37	c.10	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.32272	1.46;1.46	5.58	4.62	0.57501	.	0.483429	0.24074	N	0.041788	T	0.27063	0.0663	L	0.44542	1.39	0.80722	D	1	B	0.25351	0.124	B	0.27500	0.08	T	0.05484	-1.0882	10	0.44086	T	0.13	-1.1758	10.336	0.43850	0.0906:0.0:0.9094:0.0	.	4	Q14764	MVP_HUMAN	K	4	ENSP00000349977:E4K;ENSP00000378760:E4K	ENSP00000349977:E4K	E	+	1	0	MVP	29749381	0.997000	0.39634	0.274000	0.24659	0.959000	0.62525	5.995000	0.70631	1.364000	0.46038	0.561000	0.74099	GAA	MVP	-	NULL		0.582	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	G	NM_005115		29841880	1	no_errors	ENST00000357402	ensembl	human	known	70_37	missense	SNP	0.705	A	A	29841880	G	A	29841880	3	1	160	1	0	0	0	0	1	0	0	0	10019	1291	45	1	12	1	MVP	16	29841880	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	25631	29841880	60512873	1694	29967										
SEZ6L2	26470	genome.wustl.edu	37	chr16	29883600	29883600	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccgaaaagggactttccctGaagcctgggaaagggagagg	16	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:29883600G>A	ENST00000308713.5	-	16	3138	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	SEZ6L2_ENST00000346932.5_Nonsense_Mutation_p.Q770*|SEZ6L2_ENST00000350527.3_Nonsense_Mutation_p.Q814*|SEZ6L2_ENST00000537485.1_Nonsense_Mutation_p.Q840*	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	871					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTTTCCCTGAAGCCTGGGA	0.602																																																	0													43	43	43					16																	29883600		2197	4300	6497	SO:0001587	stop_gained	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2611C>T	16.37:g.29883600G>A	ENSP00000312550:p.Gln871*		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q871*	ENST00000308713.5	37	c.2611	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.804959	0.99268	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	.	.	.	5.43	5.43	0.79202	.	0.000000	0.48286	D	0.000194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	18.0122	0.89227	0.0:0.0:1.0:0.0	.	.	.	.	X	814;871;770;840	.	ENSP00000312550:Q871X	Q	-	1	0	SEZ6L2	29791101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.522000	0.67092	2.550000	0.86006	0.655000	0.94253	CAG	SEZ6L2	-	NULL		0.602	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	G	NM_012410		29883600	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	29883600	G	A	29883600	4	1	160	1	0	0	0	0	0	1	0	0	14174	1299	45	1	129	1	SEZ6L2	16	29883600	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	41720	29883600	60471153	1695	29968										
ALDOA	226	genome.wustl.edu	37	chr16	30081343	30081343	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaggaggagtatgtcaagcGagccctggtaaggataggca	16	7	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30081343G>C	ENST00000566897.1	+	11	2144	c.992G>C	c.(991-993)cGa>cCa	p.R331P	ALDOA_ENST00000395248.1_Missense_Mutation_p.R385P|ALDOA_ENST00000569545.1_Missense_Mutation_p.R331P|ALDOA_ENST00000563060.2_Missense_Mutation_p.R331P|ALDOA_ENST00000569798.1_Missense_Mutation_p.R331P|ALDOA_ENST00000564595.2_Missense_Mutation_p.R385P|ALDOA_ENST00000412304.2_Missense_Mutation_p.R331P|ALDOA_ENST00000338110.5_Missense_Mutation_p.R331P|ALDOA_ENST00000564546.1_Missense_Mutation_p.R331P|ALDOA_ENST00000395240.3_Missense_Mutation_p.R335P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	331					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						TATGTCAAGCGAGCCCTGGTA	0.637																																																	0													28	28	28					16																	30081343		2197	4300	6497	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.992G>C	16.37:g.30081343G>C	ENSP00000455724:p.Arg331Pro		B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.R331P	ENST00000566897.1	37	c.992	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579221	0.86645	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.87809	-2.3;-2.3;-2.3	5.58	5.58	0.84498	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96746	0.9550	10	0.87932	D	0	.	18.3461	0.90322	0.0:0.0:1.0:0.0	.	331	P04075	ALDOA_HUMAN	P	385;331;331;331	ENSP00000378669:R385P;ENSP00000336927:R331P;ENSP00000400452:R331P	ENSP00000336927:R331P	R	+	2	0	ALDOA	29988844	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.706000	0.98722	2.638000	0.89438	0.655000	0.94253	CGA	ALDOA	-	pfam_Aldolase_I		0.637	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	G	NM_000034		30081343	1	no_errors	ENST00000338110	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30081343	G	C	30081343	3	2	160	1	0	0	0	0	1	0	0	0	507	1058	37	1	1018	1	ALDOA	16	30081343	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	197743	30081343	60273410	1696	29969										
MAPK3	5595	genome.wustl.edu	37	chr16	30128563	30128563	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagtttcgggccttcatgttGatgatacaattcaggtcctc	9	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30128563G>C	ENST00000263025.4	-	6	903	c.819C>G	c.(817-819)atC>atG	p.I273M	MAPK3_ENST00000484663.1_Missense_Mutation_p.I159M|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000395200.1_Missense_Mutation_p.I205M|MAPK3_ENST00000395199.3_Missense_Mutation_p.I273M|MAPK3_ENST00000403394.1_Missense_Mutation_p.I273M	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	CCTTCATGTTGATGATACAAT	0.507																																																	0													125	115	118					16																	30128563		2197	4300	6497	SO:0001583	missense	5595			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.819C>G	16.37:g.30128563G>C	ENSP00000263025:p.Ile273Met		A8CZ58|B0LPG3|Q8NHX1	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom	p.I273M	ENST00000263025.4	37	c.819	CCDS10672.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362583|3.362583	0.61403|0.61403	.|.	.|.	ENSG00000102882|ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000403394;ENST00000395200;ENST00000478356;ENST00000395199|ENST00000495629	T;T;T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17|.	5.7|5.7	3.73|3.73	0.42828|0.42828	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.056288|.	0.64402|.	D|.	0.000001|.	T|.	0.38401|.	0.1039|.	N|N	0.13371|0.13371	0.34|0.34	0.58432|0.58432	D|D	0.999999|0.999999	P;B|.	0.36535|.	0.557;0.419|.	P;P|.	0.59115|.	0.769;0.852|.	T|.	0.10154|.	-1.0642|.	10|.	0.48119|.	T|.	0.1|.	-5.8275|-5.8275	10.8189|10.8189	0.46593|0.46593	0.1462:0.0:0.8538:0.0|0.1462:0.0:0.8538:0.0	.|.	273;273|.	P27361-3;P27361|.	.;MK03_HUMAN|.	M|X	273;159;273;205;36;273|234	ENSP00000263025:I273M;ENSP00000432742:I159M;ENSP00000384895:I273M;ENSP00000378626:I205M;ENSP00000432292:I36M;ENSP00000378625:I273M|.	ENSP00000263025:I273M|.	I|S	-|-	3|2	3|0	MAPK3|MAPK3	30036064|30036064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.218000|3.218000	0.51192|0.51192	0.743000|0.743000	0.32719|0.32719	0.591000|0.591000	0.81541|0.81541	ATC|TCA	MAPK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,pfscan_Prot_kinase_cat_dom		0.507	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	HGNC	protein_coding	OTTHUMT00000255196.2	G			30128563	-1	no_errors	ENST00000263025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30128563	G	C	30128563	3	2	160	1	0	0	0	0	1	0	0	0	9302	1280	45	1	389	1	MAPK3	16	30128563	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	47220	30128563	60226190	1697	29970										
PRR14	78994	genome.wustl.edu	37	chr16	30663238	30663238	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcccctggaaaaggcctctCggcgggtcctggccgtggtg	15	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30663238C>G	ENST00000542965.2	+	2	601	c.145C>G	c.(145-147)Cgg>Ggg	p.R49G	PRR14_ENST00000300835.4_Missense_Mutation_p.R49G			Q9BWN1	PRR14_HUMAN	proline rich 14	49										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AAAGGCCTCTCGGCGGGTCCT	0.622																																																	0													29	34	32					16																	30663238		2129	4220	6349	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.145C>G	16.37:g.30663238C>G	ENSP00000441641:p.Arg49Gly		Q8WTX2	Missense_Mutation	SNP	NULL	p.R49G	ENST00000542965.2	37	c.145	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324194	0.81580	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	T;T	0.51574	0.7;0.7	5.8	5.8	0.92144	.	0.127696	0.36134	N	0.002771	T	0.53012	0.1770	L	0.57536	1.79	0.35758	D	0.819948	P	0.45768	0.866	P	0.46479	0.518	T	0.65635	-0.6120	10	0.72032	D	0.01	-13.7596	15.5592	0.76229	0.0:1.0:0.0:0.0	.	49	Q9BWN1	PRR14_HUMAN	G	49	ENSP00000300835:R49G;ENSP00000441641:R49G	ENSP00000300835:R49G	R	+	1	2	PRR14	30570739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.698000	0.54771	2.753000	0.94483	0.455000	0.32223	CGG	PRR14	-	NULL		0.622	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	C	NM_024031		30663238	1	no_errors	ENST00000300835	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30663238	C	G	30663238	3	3	160	1	0	0	0	0	1	0	0	0	12613	875	31	1	151	1	PRR14	16	30663238	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	534675	30663238	59691515	1698	29971										
RNF40	9810	genome.wustl.edu	37	chr16	30777520	30777520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagagttagaggaaaaccagGaactggccaacagccgtatg	12	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30777520G>C	ENST00000324685.6	+	9	1465	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	344					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAAAACCAGGAACTGGCCAA	0.597																																																	0													69	74	72					16																	30777520		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1030G>C	16.37:g.30777520G>C	ENSP00000325677:p.Glu344Gln		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E344Q	ENST00000324685.6	37	c.1030	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036873	0.93630	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.34667	1.35	5.8	5.8	0.92144	.	0.047482	0.85682	D	0.000000	T	0.63780	0.2540	M	0.84948	2.725	0.80722	D	1	D;D	0.65815	0.995;0.986	P;P	0.61275	0.886;0.828	T	0.67875	-0.5557	10	0.66056	D	0.02	-3.083	18.8306	0.92137	0.0:0.0:1.0:0.0	.	344;344	A8K6K1;O75150	.;BRE1B_HUMAN	Q	344;193	ENSP00000325677:E344Q	ENSP00000325677:E344Q	E	+	1	0	RNF40	30685021	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	8.988000	0.93501	2.747000	0.94245	0.462000	0.41574	GAA	RNF40	-	NULL		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30777520	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30777520	G	C	30777520	3	2	160	1	0	0	0	0	1	0	0	0	13523	1175	41	1	1060	1	RNF40	16	30777520	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	114282	30777520	59577233	1699	29972										
RNF40	9810	genome.wustl.edu	37	chr16	30778082	30778082	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcgacgagctggggctgcaGaagaagctacgcacagaggt	16	9	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30778082G>A	ENST00000324685.6	+	11	1749	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q	RNF40_ENST00000563683.1_Silent_p.Q398Q|RNF40_ENST00000357890.5_Silent_p.Q338Q|RNF40_ENST00000402121.3_Silent_p.Q130Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	438					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGGCTGCAGAAGAAGCTAC	0.562																																																	0													65	46	53					16																	30778082		2197	4300	6497	SO:0001819	synonymous_variant	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1314G>A	16.37:g.30778082G>A			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.Q438	ENST00000324685.6	37	c.1314	CCDS10691.1	16																																																																																			RNF40	-	NULL		0.562	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30778082	1	no_errors	ENST00000324685	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30778082	G	A	30778082	2	1	160	1	0	0	0	0	0	0	0	1	13523	933	33	1		1	RNF40	16	30778082	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	562	30778082	59576671	1700	29973										
RNF40	9810	genome.wustl.edu	37	chr16	30778146	30778146	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaggtacgcaaggagtatGagatgctgcgcatcgagttt	13	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30778146G>A	ENST00000324685.6	+	11	1813	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	RNF40_ENST00000563683.1_Missense_Mutation_p.E420K|RNF40_ENST00000357890.5_Missense_Mutation_p.E360K|RNF40_ENST00000402121.3_Missense_Mutation_p.E152K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	460					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAAGGAGTATGAGATGCTGCG	0.597																																																	0													74	50	58					16																	30778146		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1378G>A	16.37:g.30778146G>A	ENSP00000325677:p.Glu460Lys		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E460K	ENST00000324685.6	37	c.1378	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.760545	0.96906	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.31769	1.48;1.48;1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.67150	-0.5743	10	0.87932	D	0	-34.2882	18.7552	0.91830	0.0:0.0:1.0:0.0	.	152;360;460;460	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	K	460;360;152	ENSP00000325677:E460K;ENSP00000350563:E360K;ENSP00000384942:E152K	ENSP00000325677:E460K	E	+	1	0	RNF40	30685647	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	GAG	RNF40	-	NULL		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30778146	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30778146	G	A	30778146	3	1	160	1	0	0	0	0	1	0	0	0	13523	1291	45	1	1416	1	RNF40	16	30778146	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	64	30778146	59576607	1701	29974										
RNF40	9810	genome.wustl.edu	37	chr16	30779455	30779455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccagtggctctgcccactCcacccccaacctgggccacc	9	21	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30779455C>G	ENST00000324685.6	+	13	2018	c.1583C>G	c.(1582-1584)tCc>tGc	p.S528C	RNF40_ENST00000563683.1_Missense_Mutation_p.S488C|RNF40_ENST00000357890.5_Missense_Mutation_p.S428C|RNF40_ENST00000402121.3_Missense_Mutation_p.S220C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	528					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TCTGCCCACTCCACCCCCAAC	0.627																																																	0													61	69	67					16																	30779455		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1583C>G	16.37:g.30779455C>G	ENSP00000325677:p.Ser528Cys		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S528C	ENST00000324685.6	37	c.1583	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	C	5.082	0.200698	0.09652	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.33865	1.39;1.39;1.39	5.23	3.11	0.35812	.	0.304632	0.31936	N	0.006833	T	0.41534	0.1163	L	0.43152	1.355	0.25197	N	0.990082	D;B;B;B	0.69078	0.997;0.0;0.001;0.001	P;B;B;B	0.60236	0.871;0.003;0.0;0.0	T	0.11155	-1.0599	10	0.48119	T	0.1	-13.1904	6.4578	0.21940	0.0:0.6672:0.1953:0.1375	.	220;428;528;528	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	C	528;428;220	ENSP00000325677:S528C;ENSP00000350563:S428C;ENSP00000384942:S220C	ENSP00000325677:S528C	S	+	2	0	RNF40	30686956	0.003000	0.15002	0.908000	0.35775	0.208000	0.24298	0.218000	0.17622	1.399000	0.46721	0.655000	0.94253	TCC	RNF40	-	NULL		0.627	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	C	NM_014771		30779455	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30779455	C	G	30779455	3	3	160	1	0	0	0	0	1	0	0	0	13523	855	30	1	1629	1	RNF40	16	30779455	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1309	30779455	59575298	1702	29975										
ZNF629	23361	genome.wustl.edu	37	chr16	30793806	30793806	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaagggagccttggggatcGtaactgaggaggtttggggg	20	4	0	1	rs544777987		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:30793806G>A	ENST00000262525.4	-	3	2050	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTTGGGGATCGTAACTGAGGA	0.612																																																	0													77	79	79					16																	30793806		1990	4154	6144	SO:0001587	stop_gained	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1843C>T	16.37:g.30793806G>A	ENSP00000262525:p.Arg615*		Q15938	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R615*	ENST00000262525.4	37	c.1843	CCDS45463.1	16	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376177	0.82682	.	.	ENSG00000102870	ENST00000262525	.	.	.	5.36	3.38	0.38709	.	0.000000	0.39341	N	0.001390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-21.8448	12.9994	0.58666	0.0:0.0:0.5584:0.4416	.	.	.	.	X	615	.	ENSP00000262525:R615X	R	-	1	2	ZNF629	30701307	0.003000	0.15002	0.017000	0.16124	0.454000	0.32378	0.774000	0.26675	0.794000	0.33899	0.561000	0.74099	CGA	ZNF629	-	NULL		0.612	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	G	NM_015309		30793806	-1	no_errors	ENST00000262525	ensembl	human	known	70_37	nonsense	SNP	0.022	A	A	30793806	G	A	30793806	4	1	160	1	0	0	0	0	0	1	0	0	18083	1153	40	2	770	2	ZNF629	16	30793806	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	14351	30793806	59560947	1703	29976										
TRIM72	493829	genome.wustl.edu	37	chr16	31235640	31235640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagttcgacaaggcggtggCggtggtggcgcaccagcagc	17	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31235640C>T	ENST00000322122.3	+	7	1282	c.998C>T	c.(997-999)gCg>gTg	p.A333V	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						AAGGCGGTGGCGGTGGTGGCG	0.731																																																	0													12	12	12					16																	31235640		2191	4273	6464	SO:0001583	missense	493829			AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.998C>T	16.37:g.31235640C>T	ENSP00000312675:p.Ala333Val			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A333V	ENST00000322122.3	37	c.998	CCDS32437.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308546	0.81247	.	.	ENSG00000177238	ENST00000322122	T	0.10960	2.82	5.44	3.36	0.38483	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.233500	0.30410	N	0.009699	T	0.15696	0.0378	M	0.73598	2.24	0.33149	D	0.545365	D	0.65815	0.995	P	0.46237	0.508	T	0.27773	-1.0064	10	0.30854	T	0.27	.	9.1252	0.36810	0.0:0.6875:0.2297:0.0827	.	333	Q6ZMU5	TRI72_HUMAN	V	333	ENSP00000312675:A333V	ENSP00000312675:A333V	A	+	2	0	TRIM72	31143141	0.058000	0.20735	1.000000	0.80357	0.919000	0.55068	0.485000	0.22324	1.303000	0.44873	0.491000	0.48974	GCG	TRIM72	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.731	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000433567.1	C	NM_001008274		31235640	1	no_errors	ENST00000322122	ensembl	human	known	70_37	missense	SNP	0.971	T	T	31235640	C	T	31235640	3	4	160	1	0	0	0	0	1	0	0	0	16576	768	27	2	1020	2	TRIM72	16	31235640	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	441834	31235640	59119113	1704	29977										
ITGAX	3687	genome.wustl.edu	37	chr16	31371752	31371752	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggatgtcatccccatggctGatgcagcaggcatcatccgc	11	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31371752G>A	ENST00000268296.4	+	8	950	c.829G>A	c.(829-831)Gat>Aat	p.D277N	ITGAX_ENST00000562522.1_Missense_Mutation_p.D277N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	277	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCATGGCTGATGCAGCAGG	0.537																																																	0													86	86	86					16																	31371752		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.829G>A	16.37:g.31371752G>A	ENSP00000268296:p.Asp277Asn		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.D277N	ENST00000268296.4	37	c.829	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045470	0.36085	.	.	ENSG00000140678	ENST00000268296	T	0.77620	-1.11	4.83	2.86	0.33363	von Willebrand factor, type A (3);	.	.	.	.	T	0.68815	0.3042	L	0.31926	0.97	0.09310	N	1	P	0.38800	0.648	B	0.41917	0.37	T	0.60326	-0.7285	9	0.72032	D	0.01	.	6.6623	0.23020	0.2888:0.0:0.7112:0.0	.	277	P20702	ITAX_HUMAN	N	277	ENSP00000268296:D277N	ENSP00000268296:D277N	D	+	1	0	ITGAX	31279253	0.368000	0.25031	0.017000	0.16124	0.006000	0.05464	1.033000	0.30191	0.738000	0.32606	0.591000	0.81541	GAT	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	G	NM_000887		31371752	1	no_errors	ENST00000268296	ensembl	human	known	70_37	missense	SNP	0.026	A	A	31371752	G	A	31371752	3	1	160	1	0	0	0	0	1	0	0	0	7909	1290	45	1	859	1	ITGAX	16	31371752	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	136112	31371752	58983001	1705	29978										
ARMC5	79798	genome.wustl.edu	37	chr16	31477187	31477187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaggggagaggctactgcaGaacctgacggttcaggctga	15	9	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:31477187G>C	ENST00000563544.1	+	6	2427	c.1881G>C	c.(1879-1881)caG>caC	p.Q627H	ARMC5_ENST00000538189.1_Missense_Mutation_p.Q659H|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q627H|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q722H|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q271H|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	627										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCTACTGCAGAACCTGACGG	0.642																																																	0													30	37	35					16																	31477187		2144	4249	6393	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1881G>C	16.37:g.31477187G>C	ENSP00000456877:p.Gln627His		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.Q722H	ENST00000563544.1	37	c.2166	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200068	0.38905	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.56	3.61	0.41365	Armadillo-type fold (1);	0.288587	0.33834	N	0.004516	T	0.33206	0.0855	L	0.47716	1.5	0.35395	D	0.791061	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;D;P	0.65443	0.904;0.904;0.935;0.904	T	0.40831	-0.9542	10	0.72032	D	0.01	-35.7892	7.9037	0.29750	0.2508:0.0:0.7492:0.0	.	659;659;722;627	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	H	722;659;627;271	ENSP00000386125:Q722H;ENSP00000443995:Q659H;ENSP00000268314:Q627H;ENSP00000400183:Q271H	ENSP00000268314:Q627H	Q	+	3	2	ARMC5	31384688	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	1.156000	0.31712	0.723000	0.32274	-0.150000	0.13652	CAG	ARMC5	-	superfamily_ARM-type_fold		0.642	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	G	NM_024742		31477187	1	no_errors	ENST00000408912	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31477187	G	C	31477187	3	2	160	1	0	0	0	0	1	0	0	0	955	933	33	1	2213	1	ARMC5	16	31477187	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	105435	31477187	58877566	1706	29979										
PHKB	5257	genome.wustl.edu	37	chr16	47621660	47621660	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgctcgctgttacccagaGaatcaagatcacatgtgaga	10	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:47621660G>T	ENST00000323584.5	+	9	880	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	PHKB_ENST00000299167.8_Nonsense_Mutation_p.E286*|PHKB_ENST00000566044.1_Nonsense_Mutation_p.E279*|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Nonsense_Mutation_p.E279*	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	286					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTACCCAGAGAATCAAGATC	0.353																																																	0													82	79	80					16																	47621660		2201	4300	6501	SO:0001587	stop_gained	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.856G>T	16.37:g.47621660G>T	ENSP00000313504:p.Glu286*		Q8N4T5	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.E286*	ENST00000323584.5	37	c.856	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610967	0.87258	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.7211	19.9981	0.97395	0.0:0.0:1.0:0.0	.	.	.	.	X	279;279;286	.	ENSP00000299167:E279X	E	+	1	0	PHKB	46179161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.910000	0.87451	2.729000	0.93468	0.655000	0.94253	GAA	PHKB	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.353	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	G			47621660	1	no_errors	ENST00000299167	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	47621660	G	T	47621660	4	4	160	1	0	0	0	0	0	1	0	0	11869	943	33	3	949	3	PHKB	16	47621660	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	16144473	47621660	42733093	1707	29980										
ABCC12	94160	genome.wustl.edu	37	chr16	48172185	48172185	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccaggcatacattttgatCagcctgatgcaggtcagaaa	9	10	2	3	rs58567530	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:48172185C>T	ENST00000311303.3	-	6	1278	c.933G>A	c.(931-933)ctG>ctA	p.L311L	ABCC12_ENST00000416054.1_Silent_p.L311L|ABCC12_ENST00000448542.1_Silent_p.L311L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	311	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACATTTTGATCAGCCTGATGC	0.423																																																	0													132	121	125					16																	48172185		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.933G>A	16.37:g.48172185C>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L311	ENST00000311303.3	37	c.933	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.423	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	C	NM_033226		48172185	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48172185	C	T	48172185	2	4	160	1	0	0	0	0	0	0	0	1	52	813	29	1		1	ABCC12	16	48172185	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	550525	48172185	42182568	1708	29981										
LONP2	85320	genome.wustl.edu	37	chr16	48278451	48278451	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgccttctgaagggcacgtCgctgcaaagcaccatcctgg	11	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:48278451C>G	ENST00000356608.2	-	1	81				ABCC11_ENST00000537808.1_Intron|LONP2_ENST00000285737.4_Missense_Mutation_p.S51W|LONP2_ENST00000535754.1_Missense_Mutation_p.S51W			Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11						organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGGGCACGTCGCTGCAAAGC	0.716																																																	0													16	13	14					16																	48278451		2188	4283	6471	SO:0001627	intron_variant	83752			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000356608.2:c.17+2773G>C	16.37:g.48278451C>G			Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.S51W	ENST00000356608.2	37	c.152	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.394528	0.96009	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.47528	0.84;0.84;0.84	5.21	5.21	0.72293	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.059384	0.64402	D	0.000001	T	0.70404	0.3220	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73408	-0.3992	10	0.87932	D	0	-5.4924	18.9329	0.92574	0.0:1.0:0.0:0.0	.	51;51	B7ZKL7;Q86WA8	.;LONP2_HUMAN	W	51	ENSP00000285737:S51W;ENSP00000445426:S51W;ENSP00000415983:S51W	ENSP00000285737:S51W	S	+	2	0	LONP2	46835952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.710000	0.92621	0.591000	0.81541	TCG	LONP2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon		0.716	ABCC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256843.1	C	NM_032583		48278451	1	no_errors	ENST00000285737	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48278451	C	G	48278451	1	3	160	0	1	0	0	0	0	0	0	0	8916	893	31	1		1	LONP2	16	48278451	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	106266	48278451	42076302	1709	29982										
N4BP1	9683	genome.wustl.edu	37	chr16	48595284	48595284	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttttctttggagtggaatCagttgtaagctcatttgtgc	11	5	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:48595284C>T	ENST00000262384.3	-	2	1506	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	424					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GGAGTGGAATCAGTTGTAAGC	0.373																																																	0													83	77	79					16																	48595284		1853	4099	5952	SO:0001583	missense	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1270G>A	16.37:g.48595284C>T	ENSP00000262384:p.Asp424Asn		A7MD49|Q2YDX1	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D424N	ENST00000262384.3	37	c.1270	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	C	2.273	-0.366438	0.05069	.	.	ENSG00000102921	ENST00000262384	T	0.41758	0.99	5.96	3.7	0.42460	.	0.505560	0.20877	N	0.084076	T	0.24005	0.0581	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13629	-1.0502	10	0.38643	T	0.18	-9.0385	10.0146	0.42008	0.0:0.7759:0.0:0.2241	.	424	O75113	N4BP1_HUMAN	N	424	ENSP00000262384:D424N	ENSP00000262384:D424N	D	-	1	0	N4BP1	47152785	0.001000	0.12720	0.079000	0.20413	0.338000	0.28826	0.320000	0.19540	1.535000	0.49220	0.655000	0.94253	GAT	N4BP1	-	NULL		0.373	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	HGNC	protein_coding	OTTHUMT00000429920.1	C	NM_014664		48595284	-1	no_errors	ENST00000262384	ensembl	human	known	70_37	missense	SNP	0.001	T	T	48595284	C	T	48595284	3	4	160	1	0	0	0	0	1	0	0	0	10132	826	29	1	1444	1	N4BP1	16	48595284	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	316833	48595284	41759469	1710	29983										
CYLD	1540	genome.wustl.edu	37	chr16	50783889	50783889	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggatgttgtagagataaatGaaaagttcacagagttactt	10	3	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:50783889G>C	ENST00000427738.3	+	2	485	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	CYLD_ENST00000568704.2_Missense_Mutation_p.E94Q|CYLD_ENST00000569418.1_Missense_Mutation_p.E94Q|CYLD_ENST00000566206.1_Missense_Mutation_p.E94Q|CYLD_ENST00000540145.1_Missense_Mutation_p.E94Q|CYLD_ENST00000398568.2_Missense_Mutation_p.E94Q|CYLD_ENST00000564326.1_Missense_Mutation_p.E94Q|CYLD_ENST00000311559.9_Missense_Mutation_p.E94Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	94					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAGATAAATGAAAAGTTCAC	0.363			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													90	87	88					16																	50783889		1827	4076	5903	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.280G>C	16.37:g.50783889G>C	ENSP00000392025:p.Glu94Gln		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19	p.E94Q	ENST00000427738.3	37	c.280	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977245	0.92982	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	6.17	6.17	0.99709	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;D;D;D	0.80764	0.986;0.994;0.994;0.986	D	0.95758	0.8798	10	0.72032	D	0.01	-34.8433	19.8676	0.96824	0.0:0.0:1.0:0.0	.	94;94;94;94	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	Q	94	ENSP00000445447:E94Q;ENSP00000308928:E94Q;ENSP00000392025:E94Q;ENSP00000381574:E94Q	ENSP00000308928:E94Q	E	+	1	0	CYLD	49341390	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.390000	0.97246	2.941000	0.99782	0.655000	0.94253	GAA	CYLD	-	superfamily_CAP-Gly_domain		0.363	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	G			50783889	1	no_errors	ENST00000311559	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50783889	G	C	50783889	3	2	160	1	0	0	0	0	1	0	0	0	4148	1291	45	1	282	1	CYLD	16	50783889	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2188605	50783889	39570864	1711	29984										
CHD9	80205	genome.wustl.edu	37	chr16	53301906	53301906	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctaaatgaacacgatgtaGagataatttgccgagctctc	9	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53301906G>A	ENST00000398510.3	+	21	4672	c.4585G>A	c.(4585-4587)Gag>Aag	p.E1529K	CHD9_ENST00000566029.1_Missense_Mutation_p.E1529K|CHD9_ENST00000564845.1_Missense_Mutation_p.E1529K|CHD9_ENST00000447540.1_Missense_Mutation_p.E1529K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1529					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACACGATGTAGAGATAATTTG	0.408																																																	0													122	113	115					16																	53301906		1852	4104	5956	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4585G>A	16.37:g.53301906G>A	ENSP00000381522:p.Glu1529Lys		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1529K	ENST00000398510.3	37	c.4585		16	.	.	.	.	.	.	.	.	.	.	G	36	5.939376	0.97128	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000011	D	0.95557	0.8556	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;D;D	0.80764	0.957;0.994;0.98;0.991	D	0.95511	0.8586	10	0.59425	D	0.04	-21.7829	19.7167	0.96124	0.0:0.0:1.0:0.0	.	1055;1529;1529;1529	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	1529;1529;1055	ENSP00000396345:E1529K;ENSP00000381522:E1529K	ENSP00000219084:E1055K	E	+	1	0	CHD9	51859407	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.673000	0.90976	0.650000	0.86243	GAG	CHD9	-	NULL		0.408	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	G	NM_025134		53301906	1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53301906	G	A	53301906	3	1	160	1	0	0	0	0	1	0	0	0	3337	943	33	1	4667	1	CHD9	16	53301906	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2518017	53301906	37052847	1712	29985										
AKTIP	64400	genome.wustl.edu	37	chr16	53526658	53526658	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgtacagaaggattccatgGagaaaagcttaaggaagaga	12	4	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53526658G>C	ENST00000394657.7	-	9	892	c.718C>G	c.(718-720)Cca>Gca	p.P240A	AKTIP_ENST00000300245.4_Missense_Mutation_p.P240A|AKTIP_ENST00000570004.1_Missense_Mutation_p.P240A	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	240					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				GGATTCCATGGAGAAAAGCTT	0.333																																																	0													94	94	94					16																	53526658		2198	4299	6497	SO:0001583	missense	64400			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.718C>G	16.37:g.53526658G>C	ENSP00000378152:p.Pro240Ala		Q503B1|Q53H38	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P240A	ENST00000394657.7	37	c.718	CCDS10749.1	16	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475000	0.63737	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.83673	-1.73;-1.75	5.88	5.88	0.94601	.	0.046847	0.85682	D	0.000000	T	0.80701	0.4673	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.14023	0.003;0.01	T	0.74022	-0.3798	10	0.52906	T	0.07	-23.2684	20.2314	0.98350	0.0:0.0:1.0:0.0	.	240;240	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	A	240	ENSP00000378152:P240A;ENSP00000300245:P240A	ENSP00000300245:P240A	P	-	1	0	AKTIP	52084159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.789000	0.95967	0.591000	0.81541	CCA	AKTIP	-	NULL		0.333	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4	G	NM_022476		53526658	-1	no_errors	ENST00000300245	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53526658	G	C	53526658	3	2	160	1	0	0	0	0	1	0	0	0	482	1174	41	1	168	1	AKTIP	16	53526658	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	224752	53526658	36828095	1713	29986										
AKTIP	64400	genome.wustl.edu	37	chr16	53528490	53528490	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgggatcaactagcgggtGaaagacaggaatatcgaaca	14	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:53528490G>A	ENST00000394657.7	-	6	616	c.442C>T	c.(442-444)Cac>Tac	p.H148Y	AKTIP_ENST00000300245.4_Missense_Mutation_p.H148Y|AKTIP_ENST00000570004.1_Missense_Mutation_p.H148Y	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	148					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				ACTAGCGGGTGAAAGACAGGA	0.413																																																	0													60	57	58					16																	53528490		2198	4300	6498	SO:0001583	missense	64400			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.442C>T	16.37:g.53528490G>A	ENSP00000378152:p.His148Tyr		Q503B1|Q53H38	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.H148Y	ENST00000394657.7	37	c.442	CCDS10749.1	16	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891090	0.72524	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.59906	0.23;0.23	5.63	5.63	0.86233	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87568	0.2476	10	0.87932	D	0	-10.7121	20.0401	0.97581	0.0:0.0:1.0:0.0	.	148;148	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	Y	148	ENSP00000378152:H148Y;ENSP00000300245:H148Y	ENSP00000300245:H148Y	H	-	1	0	AKTIP	52085991	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	7.720000	0.84759	2.805000	0.96524	0.655000	0.94253	CAC	AKTIP	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.413	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4	G	NM_022476		53528490	-1	no_errors	ENST00000300245	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53528490	G	A	53528490	3	1	160	1	0	0	0	0	1	0	0	0	482	1290	45	1	456	1	AKTIP	16	53528490	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1832	53528490	36826263	1714	29987										
LPCAT2	54947	genome.wustl.edu	37	chr16	55584987	55584987	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcctgtttcagatgtcttGagacaactttttgcactctt	7	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:55584987G>C	ENST00000262134.5	+	11	1372	c.1188G>C	c.(1186-1188)ttG>ttC	p.L396F		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	396	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CAGATGTCTTGAGACAACTTT	0.348																																																	0													100	98	99					16																	55584987		2198	4300	6498	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1188G>C	16.37:g.55584987G>C	ENSP00000262134:p.Leu396Phe		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.L396F	ENST00000262134.5	37	c.1188	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695226	0.68386	.	.	ENSG00000087253	ENST00000262134	T	0.79141	-1.24	5.68	2.46	0.29980	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	M	0.62723	1.935	0.80722	D	1	P	0.45672	0.864	P	0.53549	0.729	T	0.80079	-0.1532	10	0.66056	D	0.02	-24.8672	9.2162	0.37348	0.1422:0.1865:0.6713:0.0	.	396	Q7L5N7	PCAT2_HUMAN	F	396	ENSP00000262134:L396F	ENSP00000262134:L396F	L	+	3	2	LPCAT2	54142488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.452000	0.21795	0.855000	0.35359	0.650000	0.86243	TTG	LPCAT2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.348	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	G	NM_017839		55584987	1	no_errors	ENST00000262134	ensembl	human	known	70_37	missense	SNP	1.000	C	C	55584987	G	C	55584987	3	2	160	1	0	0	0	0	1	0	0	0	8934	1281	45	1	1230	1	LPCAT2	16	55584987	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2056497	55584987	34769766	1715	29988										
NUP93	9688	genome.wustl.edu	37	chr16	56839461	56839461	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcgggagtcaatgttggttGagtgggagcaagtgaaacag	16	4	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:56839461G>A	ENST00000308159.5	+	5	527	c.406G>A	c.(406-408)Gag>Aag	p.E136K	NUP93_ENST00000569842.1_Missense_Mutation_p.E136K|NUP93_ENST00000542526.1_Missense_Mutation_p.E13K|NUP93_ENST00000564887.1_Missense_Mutation_p.E13K|NUP93_ENST00000569595.1_3'UTR	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AATGTTGGTTGAGTGGGAGCA	0.468																																					Colon(33;610 796 1305 1705 38917)												0													99	91	94					16																	56839461		2198	4300	6498	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.406G>A	16.37:g.56839461G>A	ENSP00000310668:p.Glu136Lys		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.E136K	ENST00000308159.5	37	c.406	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807416	0.90623	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.51574	0.8;0.7	5.19	5.19	0.71726	.	0.047684	0.85682	D	0.000000	T	0.57330	0.2046	M	0.72353	2.195	0.50632	D	0.99988	P	0.48640	0.913	P	0.47470	0.548	T	0.61078	-0.7135	10	0.46703	T	0.11	-22.7896	18.3152	0.90218	0.0:0.0:1.0:0.0	.	136	Q8N1F7	NUP93_HUMAN	K	136;13	ENSP00000310668:E136K;ENSP00000440235:E13K	ENSP00000310668:E136K	E	+	1	0	NUP93	55396962	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.554000	0.67294	2.404000	0.81709	0.561000	0.74099	GAG	NUP93	-	NULL		0.468	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	G	NM_014669		56839461	1	no_errors	ENST00000308159	ensembl	human	known	70_37	missense	SNP	0.998	A	A	56839461	G	A	56839461	3	1	160	1	0	0	0	0	1	0	0	0	10796	1291	45	1	420	1	NUP93	16	56839461	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1254474	56839461	33515292	1716	29989										
NLRC5	84166	genome.wustl.edu	37	chr16	57111636	57111636	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccccctcccacagcctctCagggaatagcatcagctcag	8	18	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57111636C>T	ENST00000262510.6	+	42	5150	c.4925C>T	c.(4924-4926)tCa>tTa	p.S1642L	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1613L|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1613L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1642					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACAGCCTCTCAGGGAATAGC	0.647																																																	0													71	75	73					16																	57111636		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4925C>T	16.37:g.57111636C>T	ENSP00000262510:p.Ser1642Leu		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.S1642L	ENST00000262510.6	37	c.4925	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962579	0.53400	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.13307	2.6;2.6;2.6	4.81	4.81	0.61882	.	0.000000	0.27613	N	0.018594	T	0.31358	0.0794	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	T	0.00617	-1.1642	10	0.34782	T	0.22	.	13.2432	0.60008	0.0:1.0:0.0:0.0	.	1642	Q86WI3	NLRC5_HUMAN	L	1642;1613;1613	ENSP00000262510:S1642L;ENSP00000308886:S1613L;ENSP00000441727:S1613L	ENSP00000262510:S1642L	S	+	2	0	NLRC5	55669137	0.966000	0.33281	0.958000	0.39756	0.089000	0.18198	2.392000	0.44433	2.491000	0.84063	0.655000	0.94253	TCA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.647	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	C	NM_032206		57111636	1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.977	T	T	57111636	C	T	57111636	3	4	160	1	0	0	0	0	1	0	0	0	10494	838	29	1	5083	1	NLRC5	16	57111636	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	272175	57111636	33243117	1717	29990										
CX3CL1	6376	genome.wustl.edu	37	chr16	57416043	57416043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaggctgctgccctaactcGaaatggcggcaccttcgaga	11	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57416043G>A	ENST00000006053.6	+	3	404	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CX3CL1_ENST00000565912.1_Missense_Mutation_p.R60Q|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R104Q|CX3CL1_ENST00000564948.1_3'UTR	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	98	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCCTAACTCGAAATGGCGGC	0.637																																																	0													56	56	56					16																	57416043		2198	4300	6498	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.293G>A	16.37:g.57416043G>A	ENSP00000006053:p.Arg98Gln		O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.R98Q	ENST00000006053.6	37	c.293	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	9.736	1.163482	0.21538	.	.	ENSG00000006210	ENST00000006053	T	0.03831	3.79	5.58	-11.2	0.00127	Chemokine interleukin-8-like domain (1);	7.943350	0.00397	N	0.000042	T	0.01661	0.0053	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46898	-0.9158	10	0.87932	D	0	-15.1588	3.6357	0.08148	0.2267:0.3305:0.3438:0.0989	.	98	P78423	X3CL1_HUMAN	Q	98	ENSP00000006053:R98Q	ENSP00000006053:R98Q	R	+	2	0	CX3CL1	55973544	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.093000	0.00296	-2.688000	0.00405	-1.225000	0.01585	CGA	CX3CL1	-	superfamily_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1		0.637	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	G	NM_002996		57416043	1	no_errors	ENST00000006053	ensembl	human	known	70_37	missense	SNP	0.000	A	A	57416043	G	A	57416043	3	1	160	1	0	0	0	0	1	0	0	0	4079	1058	37	1	303	1	CX3CL1	16	57416043	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	304407	57416043	32938710	1718	29991										
GPR114	221188	genome.wustl.edu	37	chr16	57609400	57609400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcggtgccgctcagaagcaGaggccaaggcacagatagag	15	10	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57609400G>A	ENST00000340339.4	+	12	2060	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.E513K	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	513					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CTCAGAAGCAGAGGCCAAGGC	0.602																																																	0													69	62	64					16																	57609400		2198	4300	6498	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1537G>A	16.37:g.57609400G>A	ENSP00000342981:p.Glu513Lys		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.E513K	ENST00000340339.4	37	c.1537	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845580	0.51164	.	.	ENSG00000159618	ENST00000340339	T	0.31510	1.49	4.41	2.39	0.29439	.	.	.	.	.	T	0.27384	0.0672	L	0.52905	1.665	0.09310	N	1	B	0.23058	0.079	B	0.21917	0.037	T	0.20874	-1.0262	9	0.48119	T	0.1	.	6.9172	0.24367	0.2884:0.0:0.7116:0.0	.	513	Q8IZF4	GP114_HUMAN	K	513	ENSP00000342981:E513K	ENSP00000342981:E513K	E	+	1	0	GPR114	56166901	0.091000	0.21658	0.044000	0.18714	0.560000	0.35617	0.619000	0.24388	0.988000	0.38734	0.491000	0.48974	GAG	GPR114	-	NULL		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	G	NM_153837		57609400	1	no_errors	ENST00000340339	ensembl	human	known	70_37	missense	SNP	0.029	A	A	57609400	G	A	57609400	3	1	160	1	0	0	0	0	1	0	0	0	6650	943	33	1	1579	1	GPR114	16	57609400	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	193357	57609400	32745353	1719	29992										
KIFC3	3801	genome.wustl.edu	37	chr16	57806156	57806156	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctcagatcgcagtcggctCacttcctgggcctggctaat	11	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:57806156C>G	ENST00000379655.4	-	4	617	c.360G>C	c.(358-360)gtG>gtC	p.V120V	KIFC3_ENST00000543930.1_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000541240.1_Silent_p.V142V|KIFC3_ENST00000445690.2_Silent_p.V120V|KIFC3_ENST00000562903.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000539578.1_Silent_p.V62V|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000540079.2_Silent_p.V18V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	120					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCAGTCGGCTCACTTCCTGGG	0.632																																																	0													138	110	120					16																	57806156		2198	4300	6498	SO:0001819	synonymous_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.360G>C	16.37:g.57806156C>G			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V120	ENST00000379655.4	37	c.360	CCDS10789.2	16																																																																																			KIFC3	-	NULL		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	C	NM_005550		57806156	-1	no_errors	ENST00000379655	ensembl	human	known	70_37	silent	SNP	1.000	G	G	57806156	C	G	57806156	2	3	160	1	0	0	0	0	0	0	0	1	8334	813	29	1		1	KIFC3	16	57806156	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	196756	57806156	32548597	1720	29993										
SETD6	79918	genome.wustl.edu	37	chr16	58550511	58550511	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggaagcccaccccgatctCttcagcctcagggttcgctc	9	16	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:58550511C>G	ENST00000219315.4	+	4	656	c.606C>G	c.(604-606)ctC>ctG	p.L202L	SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Silent_p.L178L|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	202	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						ACCCCGATCTCTTCAGCCTCA	0.602																																																	0													89	90	90					16																	58550511		2198	4300	6498	SO:0001819	synonymous_variant	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.606C>G	16.37:g.58550511C>G			A8K380|B5ME38|Q9H787	Silent	SNP	pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase	p.L202	ENST00000219315.4	37	c.606	CCDS54013.1	16																																																																																			SETD6	-	pfam_SET_dom,pirsf_RuBisCo-cyt_methylase		0.602	SETD6-003	KNOWN	basic|CCDS	protein_coding	SETD6	HGNC	protein_coding	OTTHUMT00000317274.2	C	NM_024860		58550511	1	no_errors	ENST00000219315	ensembl	human	known	70_37	silent	SNP	0.994	G	G	58550511	C	G	58550511	2	3	160	1	0	0	0	0	0	0	0	1	14165	900	32	1		1	SETD6	16	58550511	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	744355	58550511	31804242	1721	29994										
CDH11	1009	genome.wustl.edu	37	chr16	64984692	64984692	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggagaatgacgatgcaggcGaggatggcgatcagggcgcc	18	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:64984692G>C	ENST00000268603.4	-	12	2487	c.1872C>G	c.(1870-1872)ctC>ctG	p.L624L	CDH11_ENST00000566827.1_Silent_p.L498L|CDH11_ENST00000394156.3_Silent_p.L624L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	624					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGATGCAGGCGAGGATGGCGA	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													62	48	53					16																	64984692		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1872C>G	16.37:g.64984692G>C			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L624	ENST00000268603.4	37	c.1872	CCDS10803.1	16																																																																																			CDH11	-	NULL		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		64984692	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	0.327	C	C	64984692	G	C	64984692	2	2	160	1	0	0	0	0	0	0	0	1	3102	1045	37	1		1	CDH11	16	64984692	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6434181	64984692	25370061	1722	29995										
CTCF	10664	genome.wustl.edu	37	chr16	67663428	67663428	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctaagaaagaagattcctCtgacagtggtaagtgacttg	10	7	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:67663428C>T	ENST00000264010.4	+	10	2273	c.1829C>T	c.(1828-1830)tCt>tTt	p.S610F	CTCF_ENST00000401394.1_Missense_Mutation_p.S282F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	610					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGATTCCTCTGACAGTGGT	0.453																																					Colon(175;1200 1966 6945 23069 27405)												0													162	150	154					16																	67663428		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1829C>T	16.37:g.67663428C>T	ENSP00000264010:p.Ser610Phe		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S610F	ENST00000264010.4	37	c.1829	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858724	0.51376	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09163	3.01;3.07	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	T	0.11367	0.0277	N	0.19112	0.55	0.47476	D	0.999439	D;P	0.54964	0.969;0.94	B;P	0.44860	0.354;0.462	T	0.03717	-1.1010	10	0.52906	T	0.07	-3.0152	19.0839	0.93194	0.0:1.0:0.0:0.0	.	282;610	B5MC38;P49711	.;CTCF_HUMAN	F	610;282	ENSP00000264010:S610F;ENSP00000384707:S282F	ENSP00000264010:S610F	S	+	2	0	CTCF	66220929	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.053000	0.64269	2.625000	0.88918	0.313000	0.20887	TCT	CTCF	-	NULL		0.453	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	C	NM_006565		67663428	1	no_errors	ENST00000264010	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67663428	C	T	67663428	3	4	160	1	0	0	0	0	1	0	0	0	4005	913	32	1	1859	1	CTCF	16	67663428	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2678736	67663428	22691325	1723	29996										
C16orf48	84080	genome.wustl.edu	37	chr16	67700140	67700140	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagtcagcaagtccagcttCagcgcgtttccctcgaggcg	12	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:67700140C>T	ENST00000243878.4	-	2	435	c.114G>A	c.(112-114)ctG>ctA	p.L38L	ENKD1_ENST00000602644.1_Silent_p.L38L|ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	38						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											AGTCCAGCTTCAGCGCGTTTC	0.726																																																	0													19	24	22					16																	67700140		2185	4284	6469	SO:0001819	synonymous_variant	84080			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.114G>A	16.37:g.67700140C>T			Q6UWD7	Silent	SNP	NULL	p.L38	ENST00000243878.4	37	c.114	CCDS10844.1	16																																																																																			ENKD1	-	NULL		0.726	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENKD1	HGNC	protein_coding	OTTHUMT00000268884.1	C	NM_032140		67700140	-1	no_errors	ENST00000243878	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67700140	C	T	67700140	2	4	160	1	0	0	0	0	0	0	0	1	1820	813	29	1		1	C16orf48	16	67700140	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	36712	67700140	22654613	1724	29997										
DPEP3	64180	genome.wustl.edu	37	chr16	68009858	68009858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgtgctcagttgcccatatGgaaactcagcctccacgggg	11	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:68009858G>A	ENST00000268793.4	-	10	1725	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	426					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.P451fs*>64(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGCCCATATGGAAACTCAGC	0.612																																																	1	Insertion - Frameshift(1)	ovary(1)											70	78	75					16																	68009858		2198	4300	6498	SO:0001583	missense	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1352C>T	16.37:g.68009858G>A	ENSP00000268793:p.Pro451Leu		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.P451L	ENST00000268793.4	37	c.1352	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467200	0.26335	.	.	ENSG00000141096	ENST00000268793	T	0.23147	1.92	4.73	2.78	0.32641	.	0.192237	0.45867	N	0.000335	T	0.27798	0.0684	M	0.77103	2.36	0.58432	D	0.999992	B	0.29085	0.232	B	0.29598	0.104	T	0.19877	-1.0292	10	0.87932	D	0	-3.1361	6.6343	0.22874	0.2087:0.0:0.7913:0.0	.	426	Q9H4B8	DPEP3_HUMAN	L	451	ENSP00000268793:P451L	ENSP00000268793:P451L	P	-	2	0	DPEP3	66567359	0.999000	0.42202	0.996000	0.52242	0.019000	0.09904	2.517000	0.45529	1.360000	0.45960	0.655000	0.94253	CCA	DPEP3	-	NULL		0.612	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	G	NM_022357		68009858	-1	no_errors	ENST00000268793	ensembl	human	known	70_37	missense	SNP	0.952	A	A	68009858	G	A	68009858	3	1	160	1	0	0	0	0	1	0	0	0	4725	1348	47	4	193	4	DPEP3	16	68009858	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	309718	68009858	22344895	1725	29998										
SLC7A6OS	84138	genome.wustl.edu	37	chr16	68344279	68344279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcttcaggttctccctcctCgtggacaaggtctaacaact	9	13	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:68344279C>G	ENST00000263997.6	-	2	448	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	PRMT7_ENST00000449359.3_5'Flank|PRMT7_ENST00000348497.4_5'Flank|PRMT7_ENST00000339507.5_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000441236.1_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	144					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TCTCCCTCCTCGTGGACAAGG	0.602																																																	0													23	24	23					16																	68344279		2198	4300	6498	SO:0001583	missense	84138				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.430G>C	16.37:g.68344279C>G	ENSP00000263997:p.Glu144Gln		Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.E144Q	ENST00000263997.6	37	c.430	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.687342	0.96784	.	.	ENSG00000103061	ENST00000263997	T	0.22945	1.93	4.25	4.25	0.50352	.	0.106549	0.64402	D	0.000002	T	0.49474	0.1559	M	0.78637	2.42	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.44922	-0.9296	10	0.42905	T	0.14	-12.0395	12.5277	0.56096	0.0:1.0:0.0:0.0	.	144	Q96CW6	S7A6O_HUMAN	Q	144	ENSP00000263997:E144Q	ENSP00000263997:E144Q	E	-	1	0	SLC7A6OS	66901780	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	4.897000	0.63231	2.662000	0.90505	0.558000	0.71614	GAG	SLC7A6OS	-	NULL		0.602	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	C	NM_032178		68344279	-1	no_errors	ENST00000263997	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68344279	C	G	68344279	3	3	160	1	0	0	0	0	1	0	0	0	14732	893	31	1	515	1	SLC7A6OS	16	68344279	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	334421	68344279	22010474	1726	29999										
CYB5B	80777	genome.wustl.edu	37	chr16	69458597	69458597	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagaggcagtatgtccggttCaatggcgactgcggaagcta	15	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:69458597C>G	ENST00000512062.1	+	0	170				CYB5B_ENST00000561792.1_5'UTR|CYB5B_ENST00000515314.1_5'UTR|CYB5B_ENST00000307892.8_Nonsense_Mutation_p.S4*			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)						oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				ATGTCCGGTTCAATGGCGACT	0.592																																																	0													72	77	75					16																	69458597		2034	4196	6230	SO:0001623	5_prime_UTR_variant	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.-2C>G	16.37:g.69458597C>G			A8K6B1|Q96CC3|Q9BT35	Nonsense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.S4*	ENST00000512062.1	37	c.11		16	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802889	0.90623	.	.	ENSG00000103018	ENST00000307892	.	.	.	5.87	1.4	0.22301	.	1.182760	0.06926	U	0.810241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	6.3853	4.8966	0.13753	0.0:0.4914:0.1442:0.3644	.	.	.	.	X	4	.	ENSP00000308430:S4X	S	+	2	0	CYB5B	68016098	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-0.033000	0.12246	0.087000	0.17167	-0.136000	0.14681	TCA	CYB5B	-	NULL		0.592	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	C	NM_030579		69458597	1	no_errors	ENST00000307892	ensembl	human	known	70_37	nonsense	SNP	0.001	G	G	69458597	C	G	69458597	1	3	160	0	1	0	0	0	0	0	0	0	4128	838	29	1		1	CYB5B	16	69458597	5'UTR	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1114318	69458597	20896156	1727	30000										
CYB5B	80777	genome.wustl.edu	37	chr16	69458700	69458700	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggcaaagcgcaactccttGaaggaactgtggcttgtgat	13	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:69458700G>A	ENST00000512062.1	+	1	273	c.102G>A	c.(100-102)ttG>ttA	p.L34L	CYB5B_ENST00000561792.1_Silent_p.L34L|CYB5B_ENST00000515314.1_Silent_p.L34L|CYB5B_ENST00000307892.8_Silent_p.L38L			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	34	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCAACTCCTTGAAGGAACTGT	0.607																																																	0													72	76	75					16																	69458700		2085	4221	6306	SO:0001819	synonymous_variant	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.102G>A	16.37:g.69458700G>A			A8K6B1|Q96CC3|Q9BT35	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.L38	ENST00000512062.1	37	c.114		16																																																																																			CYB5B	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5		0.607	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	G	NM_030579		69458700	1	no_errors	ENST00000307892	ensembl	human	known	70_37	silent	SNP	0.254	A	A	69458700	G	A	69458700	2	1	160	1	0	0	0	0	0	0	0	1	4128	1281	45	1		1	CYB5B	16	69458700	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	103	69458700	20896053	1728	30001										
FUK	197258	genome.wustl.edu	37	chr16	70513187	70513187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcggcgtatgatggatgtcCtggccccccacgtgcatggc	14	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:70513187C>T	ENST00000288078.6	+	23	3266	c.3034C>T	c.(3034-3036)Ctg>Ttg	p.L1012L	FUK_ENST00000378912.2_Silent_p.L1018L|FUK_ENST00000571514.1_Silent_p.L503L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1012						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GATGGATGTCCTGGCCCCCCA	0.632																																																	0													44	48	47					16																	70513187		2055	4209	6264	SO:0001819	synonymous_variant	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3034C>T	16.37:g.70513187C>T			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.L1018	ENST00000288078.6	37	c.3052	CCDS10891.2	16																																																																																			FUK	-	pfam_GHMP_kinase_C_dom,prints_Galkinase		0.632	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	C	NM_145059		70513187	1	no_errors	ENST00000378912	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70513187	C	T	70513187	2	4	160	1	0	0	0	0	0	0	0	1	6114	680	24	4		4	FUK	16	70513187	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1054487	70513187	19841566	1729	30002										
TAT	6898	genome.wustl.edu	37	chr16	71610147	71610147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttcatgttgtccacaatggCtcggatggggttgaaagttt	12	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:71610147C>G	ENST00000355962.4	-	2	305	c.172G>C	c.(172-174)Gcc>Ccc	p.A58P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	58					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCCACAATGGCTCGGATGGGG	0.507																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													146	117	127					16																	71610147		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.172G>C	16.37:g.71610147C>G	ENSP00000348234:p.Ala58Pro		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.A58P	ENST00000355962.4	37	c.172	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021781	0.75275	.	.	ENSG00000198650	ENST00000355962	D	0.88664	-2.41	6.01	3.03	0.35002	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.134853	0.64402	D	0.000002	D	0.93226	0.7842	M	0.83012	2.62	0.58432	D	0.999999	D;P;P	0.76494	0.999;0.529;0.903	D;B;P	0.70716	0.97;0.323;0.534	D	0.91554	0.5259	10	0.33940	T	0.23	-10.7851	10.829	0.46649	0.0:0.7977:0.0:0.2023	.	58;58;58	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	P	58	ENSP00000348234:A58P	ENSP00000348234:A58P	A	-	1	0	TAT	70167648	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.830000	0.55768	0.873000	0.35799	0.655000	0.94253	GCC	TAT	-	superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.507	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	C			71610147	-1	no_errors	ENST00000355962	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71610147	C	G	71610147	3	3	160	1	0	0	0	0	1	0	0	0	15620	797	28	4	1236	4	TAT	16	71610147	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1096960	71610147	18744606	1730	30003										
DHODH	1723	genome.wustl.edu	37	chr16	72051002	72051002	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaagcaggccaagctcacaGaaggtaaagtggggttgtgt	15	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:72051002G>A	ENST00000219240.4	+	4	535	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000572887.1_Missense_Mutation_p.E172K	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	172					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CAAGCTCACAGAAGGTAAAGT	0.483																																																	0													123	136	132					16																	72051002		1927	4150	6077	SO:0001583	missense	1723				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.514G>A	16.37:g.72051002G>A	ENSP00000219240:p.Glu172Lys		A8K8C8|Q6P176	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.E172K	ENST00000219240.4	37	c.514	CCDS42192.1	16	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563677	0.27915	.	.	ENSG00000102967	ENST00000219240	D	0.93906	-3.31	5.82	3.77	0.43336	Aldolase-type TIM barrel (1);	0.363826	0.34531	N	0.003898	T	0.73885	0.3644	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64407	-0.6415	10	0.07175	T	0.84	-6.7377	9.4006	0.38431	0.1367:0.1196:0.7436:0.0	.	172	Q02127	PYRD_HUMAN	K	172	ENSP00000219240:E172K	ENSP00000219240:E172K	E	+	1	0	DHODH	70608503	0.370000	0.25047	0.979000	0.43373	0.532000	0.34746	1.145000	0.31577	1.438000	0.47492	0.561000	0.74099	GAA	DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2		0.483	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding		G	NM_001361		72051002	1	no_errors	ENST00000219240	ensembl	human	known	70_37	missense	SNP	0.064	A	A	72051002	G	A	72051002	3	1	160	1	0	0	0	0	1	0	0	0	4494	943	33	1	528	1	DHODH	16	72051002	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	440855	72051002	18303751	1731	30004										
CFDP1	10428	genome.wustl.edu	37	chr16	75338926	75338926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctactccttcttacccctCtttccctcgattatggatgg	5	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:75338926C>G	ENST00000283882.3	-	6	937	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	269	BCNT-C. {ECO:0000255|PROSITE- ProRule:PRU00610}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TCTTACCCCTCTTTCCCTCGA	0.468																																																	0													165	161	162					16																	75338926		2198	4300	6498	SO:0001583	missense	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.805G>C	16.37:g.75338926C>G	ENSP00000283882:p.Glu269Gln		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Missense_Mutation	SNP	pfam_BCNT	p.E269Q	ENST00000283882.3	37	c.805	CCDS10916.1	16	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360838	0.61403	.	.	ENSG00000153774	ENST00000283882	T	0.48522	0.81	5.83	5.83	0.93111	.	0.252589	0.37955	N	0.001875	T	0.48277	0.1491	L	0.43152	1.355	0.45161	D	0.99817	P;P	0.36086	0.476;0.536	B;B	0.40329	0.326;0.306	T	0.38373	-0.9664	10	0.40728	T	0.16	.	18.6994	0.91615	0.0:1.0:0.0:0.0	.	269;269	B2R9W9;Q9UEE9	.;CFDP1_HUMAN	Q	269	ENSP00000283882:E269Q	ENSP00000283882:E269Q	E	-	1	0	CFDP1	73896427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.941000	0.70195	2.755000	0.94549	0.650000	0.86243	GAG	CFDP1	-	pfam_BCNT		0.468	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2	C	NM_006324		75338926	-1	no_errors	ENST00000283882	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75338926	C	G	75338926	3	3	160	1	0	0	0	0	1	0	0	0	3287	922	32	1	102	1	CFDP1	16	75338926	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3287924	75338926	15015827	1732	30005										
CFDP1	10428	genome.wustl.edu	37	chr16	75445851	75445851	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttcagtctcctctcctttCtataaaaaaaacaagaaatg	3	10	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:75445851C>T	ENST00000283882.3	-	4	535		c.e4-1		SNORA76_ENST00000516313.1_RNA|RP11-77K12.1_ENST00000561887.1_5'Flank|CFDP1_ENST00000564286.1_Splice_Site	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CCTCTCCTTTCTATAAAAAAA	0.313																																																	0													71	66	68					16																	75445851		2198	4299	6497	SO:0001630	splice_region_variant	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.403-1G>A	16.37:g.75445851C>T			O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Splice_Site	SNP	-	e4-1	ENST00000283882.3	37	c.403-1	CCDS10916.1	16	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927679	0.52759	.	.	ENSG00000153774	ENST00000283882	.	.	.	5.8	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.803	0.46500	0.0:0.9136:0.0:0.0864	.	.	.	.	.	-1	.	.	.	-	.	.	CFDP1	74003352	.	.	0.079000	0.20413	0.504000	0.33889	.	.	1.463000	0.47967	0.585000	0.79938	.	CFDP1	-	-		0.313	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2	C	NM_006324	Intron	75445851	-1	no_errors	ENST00000283882	ensembl	human	known	70_37	splice_site	SNP	0.341	T	T	75445851	C	T	75445851	5	4	160	1	0	0	0	0	0	0	1	0	3287	927	32	1	513	1	CFDP1	16	75445851	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	106925	75445851	14908902	1733	30006										
CENPN	55839	genome.wustl.edu	37	chr16	81050974	81050974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagtttgggaagtttttcaGatgagtaaaggaccaggtaa	12	3	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:81050974G>C	ENST00000305850.5	+	4	1051	c.261G>C	c.(259-261)caG>caC	p.Q87H	CENPN_ENST00000393335.3_Missense_Mutation_p.Q87H|CENPN_ENST00000299572.5_Missense_Mutation_p.Q87H|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Intron|CENPN_ENST00000428963.2_Missense_Mutation_p.Q87H|CENPN_ENST00000569461.1_Intron|RP11-303E16.3_ENST00000562315.1_RNA	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	87					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						AAGTTTTTCAGATGAGTAAAG	0.373																																																	0													104	109	107					16																	81050974		2202	4300	6502	SO:0001583	missense	55839			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"chromosome 16 open reading frame 60"	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.261G>C	16.37:g.81050974G>C	ENSP00000305608:p.Gln87His		A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	pfam_CHL4	p.Q87H	ENST00000305850.5	37	c.261	CCDS42200.1	16	.	.	.	.	.	.	.	.	.	.	G	9.894	1.204953	0.22205	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000393335;ENST00000428963	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.58	-2.33	0.06724	.	0.356788	0.32578	N	0.005916	T	0.15262	0.0368	L	0.47716	1.5	0.39094	D	0.961157	B;B;B;B	0.12630	0.005;0.006;0.002;0.004	B;B;B;B	0.14023	0.01;0.007;0.003;0.006	T	0.06110	-1.0845	10	0.37606	T	0.19	0.0245	2.1991	0.03918	0.2747:0.3266:0.289:0.1098	.	87;87;87;87	E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;CENPN_HUMAN;.	H	87	ENSP00000305608:Q87H;ENSP00000299572:Q87H;ENSP00000377007:Q87H;ENSP00000393991:Q87H	ENSP00000299572:Q87H	Q	+	3	2	CENPN	79608475	1.000000	0.71417	0.987000	0.45799	0.572000	0.35998	0.468000	0.22051	-0.201000	0.10284	-0.274000	0.10170	CAG	CENPN	-	pfam_CHL4		0.373	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CENPN	HGNC	protein_coding	OTTHUMT00000269051.1	G	NM_018455		81050974	1	no_errors	ENST00000299572	ensembl	human	known	70_37	missense	SNP	0.941	C	C	81050974	G	C	81050974	3	2	160	1	0	0	0	0	1	0	0	0	3243	933	33	1	271	1	CENPN	16	81050974	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5605123	81050974	9303779	1734	30007										
GAN	8139	genome.wustl.edu	37	chr16	81348827	81348827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgacgcgcacctggtcctcGacggggaggagatcccggtg	17	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:81348827G>C	ENST00000568107.2	+	1	271	c.109G>C	c.(109-111)Gac>Cac	p.D37H	RP11-55K13.1_ENST00000570148.1_RNA	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTGGTCCTCGACGGGGAGGA	0.716																																					GBM(106;1239 1507 7582 9741 33976)												0													14	15	15					16																	81348827		2189	4295	6484	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.109G>C	16.37:g.81348827G>C	ENSP00000476795:p.Asp37His			Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D37H	ENST00000568107.2	37	c.109	CCDS10935.1	16	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573550	0.65765	.	.	ENSG00000127688	ENST00000248272	T	0.72394	-0.65	4.16	3.17	0.36434	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.196194	0.42548	D	0.000683	T	0.66025	0.2748	L	0.58583	1.82	0.40598	D	0.98155	B	0.30851	0.297	B	0.29862	0.108	T	0.68176	-0.5478	10	0.59425	D	0.04	.	13.0862	0.59142	0.0:0.0:0.8382:0.1618	.	37	Q9H2C0	GAN_HUMAN	H	37	ENSP00000248272:D37H	ENSP00000248272:D37H	D	+	1	0	GAN	79906328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.703000	0.74633	0.905000	0.36596	0.454000	0.30748	GAC	GAN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.716	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	G			81348827	1	no_errors	ENST00000248272	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81348827	G	C	81348827	3	2	160	1	0	0	0	0	1	0	0	0	6251	1058	37	1	111	1	GAN	16	81348827	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	297853	81348827	9005926	1735	30008										
PLCG2	5336	genome.wustl.edu	37	chr16	81973535	81973535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctatctgggctccaacacagGagaaggtgacatttgaaatt	10	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:81973535G>C	ENST00000359376.3	+	30	3566	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1118	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAACACAGGAGAAGGTGAC	0.468																																																	0													113	108	110					16																	81973535		1875	4121	5996	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3352G>C	16.37:g.81973535G>C	ENSP00000352336:p.Glu1118Gln		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.E1118Q	ENST00000359376.3	37	c.3352	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715996	0.68844	.	.	ENSG00000197943	ENST00000359376	T	0.77098	-1.07	5.75	5.75	0.90469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.091573	0.85682	D	0.000000	T	0.78515	0.4295	M	0.62209	1.925	0.58432	D	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.76937	-0.2774	10	0.46703	T	0.11	.	15.4412	0.75184	0.0:0.1382:0.8618:0.0	.	1118	P16885	PLCG2_HUMAN	Q	1118	ENSP00000352336:E1118Q	ENSP00000352336:E1118Q	E	+	1	0	PLCG2	80531036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.251000	0.78297	2.716000	0.92895	0.655000	0.94253	GAG	PLCG2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting		0.468	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	G			81973535	1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81973535	G	C	81973535	3	2	160	1	0	0	0	0	1	0	0	0	12060	1175	41	1	3466	1	PLCG2	16	81973535	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	624708	81973535	8381218	1736	30009										
CDH13	1012	genome.wustl.edu	37	chr16	82892020	82892020	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcactcctggatttcagcaGaaagtgttccatatcaatca	7	10	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:82892020G>C	ENST00000566620.1	+	2	389	c.99G>C	c.(97-99)caG>caC	p.Q33H	CDH13_ENST00000446376.2_Missense_Mutation_p.Q33H|CDH13_ENST00000268613.10_Missense_Mutation_p.Q80H|CDH13_ENST00000567445.1_Missense_Mutation_p.Q33H|CDH13_ENST00000428848.3_Missense_Mutation_p.Q33H|CDH13_ENST00000431540.3_Missense_Mutation_p.Q33H|CDH13_ENST00000565636.1_Missense_Mutation_p.Q33H	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	33					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GATTTCAGCAGAAAGTGTTCC	0.398																																																	0													98	93	94					16																	82892020		1893	4110	6003	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.99G>C	16.37:g.82892020G>C	ENSP00000454435:p.Gln33His		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q33H	ENST00000566620.1	37	c.99	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513850	0.64522	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000539548;ENST00000431540;ENST00000446376	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.95	4.92	0.64577	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.54806	0.1881	L	0.40543	1.245	0.22926	N	0.99855	D;P;P;B	0.63046	0.992;0.797;0.896;0.268	P;P;P;B	0.59948	0.815;0.793;0.866;0.358	T	0.45512	-0.9256	9	0.59425	D	0.04	.	11.04	0.47825	0.1452:0.0:0.8548:0.0	.	33;80;33;33	B7Z590;B7Z9B1;A8W477;P55290	.;.;.;CAD13_HUMAN	H	80;33;33;33;33;33	ENSP00000268613:Q80H;ENSP00000394557:Q33H;ENSP00000442225:Q33H;ENSP00000408632:Q33H;ENSP00000388804:Q33H	ENSP00000268613:Q80H	Q	+	3	2	CDH13	81449521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.799000	0.47892	2.827000	0.97445	0.650000	0.86243	CAG	CDH13	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like		0.398	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	G	NM_001257		82892020	1	no_errors	ENST00000566620	ensembl	human	known	70_37	missense	SNP	1.000	C	C	82892020	G	C	82892020	3	2	160	1	0	0	0	0	1	0	0	0	3104	933	33	1	105	1	CDH13	16	82892020	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	918485	82892020	7462733	1737	30010										
CDH13	1012	genome.wustl.edu	37	chr16	83817034	83817034	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcggcaggggccctgcgcttCagcctgccctcagtcctgct	13	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:83817034C>T	ENST00000566620.1	+	13	2381	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	CDH13_ENST00000268613.10_Silent_p.F744F|CDH13_ENST00000428848.3_Silent_p.F658F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	697					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGCGCTTCAGCCTGCCCT	0.527																																																	0													78	79	79					16																	83817034		2039	4178	6217	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2091C>T	16.37:g.83817034C>T			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F697	ENST00000566620.1	37	c.2091	CCDS58486.1	16																																																																																			CDH13	-	pfscan_Cadherin		0.527	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	C	NM_001257		83817034	1	no_errors	ENST00000566620	ensembl	human	known	70_37	silent	SNP	0.699	T	T	83817034	C	T	83817034	2	4	160	1	0	0	0	0	0	0	0	1	3104	825	29	1		1	CDH13	16	83817034	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	925014	83817034	6537719	1738	30011										
CDH13	1012	genome.wustl.edu	37	chr16	83817049	83817049	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcttcagcctgccctcagtCctgctcctcagcctcttcag	7	19	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:83817049C>T	ENST00000566620.1	+	13	2396	c.2106C>T	c.(2104-2106)gtC>gtT	p.V702V	CDH13_ENST00000268613.10_Silent_p.V749V|CDH13_ENST00000428848.3_Silent_p.V663V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	702					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGCCCTCAGTCCTGCTCCTCA	0.522																																																	0													76	76	76					16																	83817049		2040	4179	6219	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2106C>T	16.37:g.83817049C>T			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V702	ENST00000566620.1	37	c.2106	CCDS58486.1	16																																																																																			CDH13	-	pfscan_Cadherin		0.522	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	C	NM_001257		83817049	1	no_errors	ENST00000566620	ensembl	human	known	70_37	silent	SNP	0.262	T	T	83817049	C	T	83817049	2	4	160	1	0	0	0	0	0	0	0	1	3104	842	30	1		1	CDH13	16	83817049	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	15	83817049	6537704	1739	30012										
COX4I1	1327	genome.wustl.edu	37	chr16	85834864	85834864	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagcgagcaatttccacctCtgtgtgtgtacgagctcatg	10	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:85834864C>G	ENST00000562336.1	+	2	246	c.53C>G	c.(52-54)tCt>tGt	p.S18C	COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Missense_Mutation_p.S18C|EMC8_ENST00000253457.3_5'Flank|COX4I1_ENST00000253452.2_Missense_Mutation_p.S18C|COX4I1_ENST00000564903.1_Missense_Mutation_p.S18C|EMC8_ENST00000435200.2_5'Flank|COX4I1_ENST00000561569.1_Missense_Mutation_p.S18C			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	18					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				ATTTCCACCTCTGTGTGTGTA	0.408																																																	0													211	202	205					16																	85834864		2198	4300	6498	SO:0001583	missense	1327			AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2265	protein-coding gene	gene with protein product		123864	"cytochrome c oxidase subunit IV"	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.53C>G	16.37:g.85834864C>G	ENSP00000457513:p.Ser18Cys		B2R4J2|D3DUM7|Q6P666	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4	p.S18C	ENST00000562336.1	37	c.53	CCDS10955.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042376	0.75732	.	.	ENSG00000131143	ENST00000253452	T	0.52526	0.66	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77867	-0.2428	10	0.66056	D	0.02	-20.789	19.1187	0.93353	0.0:1.0:0.0:0.0	.	18;18	Q86WV2;P13073	.;COX41_HUMAN	C	18	ENSP00000253452:S18C	ENSP00000253452:S18C	S	+	2	0	COX4I1	84392365	1.000000	0.71417	0.936000	0.37596	0.593000	0.36681	7.183000	0.77697	2.501000	0.84356	0.650000	0.86243	TCT	COX4I1	-	NULL		0.408	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COX4I1	HGNC	protein_coding	OTTHUMT00000430873.1	C	NM_001861		85834864	1	no_errors	ENST00000253452	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85834864	C	G	85834864	3	3	160	1	0	0	0	0	1	0	0	0	3774	913	32	1	55	1	COX4I1	16	85834864	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2017815	85834864	4519889	1740	30013										
CDT1	81620	genome.wustl.edu	37	chr16	88871284	88871284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtcctgcaccccagaggccGagggccgccctgaggagcca	14	16	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:88871284G>A	ENST00000301019.4	+	3	1085	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCCAGAGGCCGAGGGCCGCCC	0.721																																					Melanoma(159;511 3380 30971)												0													9	11	10					16																	88871284		2167	4266	6433	SO:0001583	missense	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.466G>A	16.37:g.88871284G>A	ENSP00000301019:p.Glu156Lys			Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.E156K	ENST00000301019.4	37	c.466	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217743	0.22373	.	.	ENSG00000167513	ENST00000301019	T	0.60672	0.17	4.13	-4.16	0.03869	.	0.911920	0.09510	N	0.792403	T	0.37999	0.1024	L	0.46157	1.445	0.09310	N	1	B	0.27700	0.186	B	0.12837	0.008	T	0.34254	-0.9836	10	0.07644	T	0.81	.	7.1582	0.25649	0.6223:0.1456:0.2321:0.0	.	156	Q9H211	CDT1_HUMAN	K	156	ENSP00000301019:E156K	ENSP00000301019:E156K	E	+	1	0	CDT1	87398785	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-1.205000	0.03014	-0.846000	0.04174	-1.279000	0.01387	GAG	CDT1	-	NULL		0.721	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	G	NM_030928		88871284	1	no_errors	ENST00000301019	ensembl	human	known	70_37	missense	SNP	0.000	A	A	88871284	G	A	88871284	3	1	160	1	0	0	0	0	1	0	0	0	3185	1059	37	1	476	1	CDT1	16	88871284	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3036420	88871284	1483469	1741	30014										
CDH15	1013	genome.wustl.edu	37	chr16	89251670	89251670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctccatcctgcagcagggcAgccccgagctcttcagcatc	9	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89251670A>G	ENST00000289746.2	+	5	657	c.592A>G	c.(592-594)Agc>Ggc	p.S198G		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCAGCAGGGCAGCCCCGAGCT	0.667																																																	0													50	46	47					16																	89251670		2195	4297	6492	SO:0001583	missense	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.592A>G	16.37:g.89251670A>G	ENSP00000289746:p.Ser198Gly			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S198G	ENST00000289746.2	37	c.592	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	A	6.993	0.553329	0.13374	.	.	ENSG00000129910	ENST00000289746	T	0.60920	0.15	4.76	-6.77	0.01727	Cadherin (4);Cadherin-like (1);	1.145820	0.06650	N	0.762573	T	0.29684	0.0741	N	0.03881	-0.34	0.09310	N	0.999999	B	0.10296	0.003	B	0.16722	0.016	T	0.40079	-0.9582	10	0.13470	T	0.59	.	13.1389	0.59424	0.7314:0.0:0.2686:0.0	.	198	P55291	CAD15_HUMAN	G	198	ENSP00000289746:S198G	ENSP00000289746:S198G	S	+	1	0	CDH15	87779171	0.002000	0.14202	0.581000	0.28614	0.091000	0.18340	0.105000	0.15333	-1.817000	0.01219	-1.489000	0.00976	AGC	CDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	A	NM_004933		89251670	1	no_errors	ENST00000289746	ensembl	human	known	70_37	missense	SNP	0.052	G	G	89251670	A	G	89251670	3	3	160	1	0	0	0	0	1	0	0	0	3105	188	7	5	610	5	CDH15	16	89251670	Missense_Mutation	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	380386	89251670	1103083	1742	30015										
ZNF778	197320	genome.wustl.edu	37	chr16	89293162	89293162	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtgtggagaagctttcagtGaacactcaggcctcagcaca	11	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89293162G>A	ENST00000433976.2	+	6	714	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E86K	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCTTTCAGTGAACACTCAGG	0.483																																																	0													69	73	72					16																	89293162		2086	4248	6334	SO:0001583	missense	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.382G>A	16.37:g.89293162G>A	ENSP00000405289:p.Glu128Lys		Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E128K	ENST00000433976.2	37	c.382	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	8.126	0.781933	0.16189	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.52057	0.68;0.68	1.21	0.182	0.15077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.28034	0.0691	L	0.28400	0.85	0.09310	N	1	B;B	0.27166	0.17;0.023	B;B	0.15052	0.012;0.002	T	0.13926	-1.0491	9	0.32370	T	0.25	.	3.7923	0.08726	0.4745:0.0:0.5255:0.0	.	86;128	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	K	128;86	ENSP00000405289:E128K;ENSP00000305203:E86K	ENSP00000305203:E86K	E	+	1	0	ZNF778	87820663	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-7.470000	0.00035	0.085000	0.17107	0.460000	0.39030	GAA	ZNF778	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	G	NM_182531		89293162	1	no_errors	ENST00000433976	ensembl	human	known	70_37	missense	SNP	0.006	A	A	89293162	G	A	89293162	3	1	160	1	0	0	0	0	1	0	0	0	18181	1291	45	1	400	1	ZNF778	16	89293162	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	41492	89293162	1061591	1743	30016										
CHMP1A	5119	genome.wustl.edu	37	chr16	89718046	89718046	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccagcttctccagctgcttCgccgtgaactgagcggaagc	12	14	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89718046C>G	ENST00000397901.3	-	3	292	c.36G>C	c.(34-36)gcG>gcC	p.A12A	CHMP1A_ENST00000253475.5_Missense_Mutation_p.E6Q|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000550102.1_Silent_p.A12A	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	12					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CCAGCTGCTTCGCCGTGAACT	0.637																																																	0													59	65	63					16																	89718046		2025	4173	6198	SO:0001819	synonymous_variant	5119			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.36G>C	16.37:g.89718046C>G			A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	NULL	p.E6Q	ENST00000397901.3	37	c.16	CCDS45552.1	16	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013264	0.19277	.	.	ENSG00000131165	ENST00000253475	.	.	.	4.81	-6.73	0.01749	.	1.384760	0.05048	N	0.477650	T	0.31358	0.0794	.	.	.	0.18873	N	0.999985	B	0.26363	0.147	B	0.21917	0.037	T	0.39583	-0.9607	8	0.87932	D	0	0.021	11.0853	0.48082	0.0:0.503:0.0989:0.398	.	6	A6NG32	.	Q	6	.	ENSP00000253475:E6Q	E	-	1	0	CHMP1A	88245547	0.000000	0.05858	0.843000	0.33291	0.581000	0.36288	-3.709000	0.00387	-1.607000	0.01589	-0.812000	0.03155	GAA	CHMP1A	-	NULL		0.637	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP1A	HGNC	protein_coding	OTTHUMT00000404581.1	C	NM_002768		89718046	-1	no_errors	ENST00000253475	ensembl	human	known	70_37	missense	SNP	0.385	G	G	89718046	C	G	89718046	2	3	160	1	0	0	0	0	0	0	0	1	3357	893	31	1		1	CHMP1A	16	89718046	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	424884	89718046	636707	1744	30017										
TCF25	22980	genome.wustl.edu	37	chr16	89940235	89940235	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcccgggggcgcagggaagGagggcgtccgagtcaacaac	18	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr16:89940235G>C	ENST00000263346.8	+	1	216	c.160G>C	c.(160-162)Gag>Cag	p.E54Q		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	54					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CGCAGGGAAGGAGGGCGTCCG	0.701																																																	0													12	16	14					16																	89940235		2169	4269	6438	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.160G>C	16.37:g.89940235G>C	ENSP00000263346:p.Glu54Gln		Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.E54Q	ENST00000263346.8	37	c.160	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	g	17.32	3.360540	0.61403	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	4.92	4.92	0.64577	.	0.216187	0.39615	N	0.001303	T	0.61800	0.2376	N	0.22421	0.69	0.80722	D	1	D;B	0.67145	0.996;0.003	P;B	0.62813	0.907;0.002	T	0.63350	-0.6657	9	0.45353	T	0.12	.	16.8529	0.85999	0.0:0.0:1.0:0.0	.	54;54	B4DVF2;Q9BQ70	.;TCF25_HUMAN	Q	54	.	ENSP00000263346:E54Q	E	+	1	0	TCF25	88467736	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	2.955000	0.49121	2.572000	0.86782	0.457000	0.33378	GAG	TCF25	-	NULL		0.701	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89940235	1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89940235	G	C	89940235	3	2	160	1	0	0	0	0	1	0	0	0	15723	1175	41	1	162	1	TCF25	16	89940235	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	222189	89940235	414518	1745	30018										
RNMTL1	51031	genome.wustl.edu	37	chr17	685696	685696	+	5'Flank	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggcttgggaccttgacgcGaggcgctgggtccgggcgct	18	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:685696G>C	ENST00000301328.5	-	0	0				GLOD4_ENST00000301329.6_5'Flank|GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.A26A			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A26A(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACCTTGACGCGAGGCGCTGGG	0.677																																																	1	Substitution - coding silent(1)	lung(1)											30	34	33					17																	685696		2203	4299	6502	SO:0001631	upstream_gene_variant	55178			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685696G>C	Exception_encountered		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.A26	ENST00000301328.5	37	c.78		17																																																																																			RNMTL1	-	NULL		0.677	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000437190.1	G	NM_016080		685696	1	no_errors	ENST00000304478	ensembl	human	known	70_37	silent	SNP	0.220	C	C	685696	G	C	685696	1	2	160	0	1	0	0	0	0	0	0	0	13537	1045	37	1		1	RNMTL1	17	685696	5'Flank	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		685696	80509514	1746	30019										
TIMM22	29928	genome.wustl.edu	37	chr17	900554	900554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caagtccagccaagagtgagGagcagaagatgatcgagaag	14	7	0	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:900554G>A	ENST00000327158.4	+	1	198	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	58					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAAGAGTGAGGAGCAGAAGAT	0.647																																																	0													57	54	55					17																	900554		2203	4299	6502	SO:0001583	missense	29928			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.172G>A	17.37:g.900554G>A	ENSP00000320236:p.Glu58Lys		Q9NWI8	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.E58K	ENST00000327158.4	37	c.172	CCDS32521.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594058	0.86953	.	.	ENSG00000177370	ENST00000327158	T	0.48522	0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.59436	1.845	0.80722	D	1	P	0.48834	0.916	B	0.43123	0.409	T	0.56135	-0.8029	10	0.59425	D	0.04	-31.4488	18.4729	0.90781	0.0:0.0:1.0:0.0	.	58	Q9Y584	TIM22_HUMAN	K	58	ENSP00000320236:E58K	ENSP00000320236:E58K	E	+	1	0	TIMM22	847304	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.634000	0.67833	2.585000	0.87301	0.485000	0.47835	GAG	TIMM22	-	NULL		0.647	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM22	HGNC	protein_coding	OTTHUMT00000450107.2	G	NM_013337		900554	1	no_errors	ENST00000327158	ensembl	human	known	70_37	missense	SNP	1.000	A	A	900554	G	A	900554	3	1	160	1	0	0	0	0	1	0	0	0	15940	1175	41	1	174	1	TIMM22	17	900554	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	214858	900554	80294656	1747	30020										
INPP5K	51763	genome.wustl.edu	37	chr17	1416750	1416750	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgaactggcaagttaccttGatgaagctcagaggggaaag	13	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:1416750G>C	ENST00000421807.2	-	3	646	c.258C>G	c.(256-258)atC>atG	p.I86M	INPP5K_ENST00000320345.6_Missense_Mutation_p.I10M|INPP5K_ENST00000397335.3_Intron|INPP5K_ENST00000542125.1_Missense_Mutation_p.I86M|INPP5K_ENST00000406424.4_Missense_Mutation_p.I10M	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	86	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						AAGTTACCTTGATGAAGCTCA	0.483																																																	0													182	158	166					17																	1416750		2203	4300	6503	SO:0001583	missense	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.258C>G	17.37:g.1416750G>C	ENSP00000413937:p.Ile86Met		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.I86M	ENST00000421807.2	37	c.258	CCDS11004.1	17	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399849	0.42512	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000542125;ENST00000445774	D;D;T	0.95377	-3.69;-3.69;0.86	5.72	2.49	0.30216	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.667674	0.15115	N	0.279735	D	0.95487	0.8534	M	0.64997	1.995	0.80722	D	1	B;P	0.44659	0.4;0.84	B;P	0.54590	0.049;0.756	D	0.93587	0.6918	10	0.72032	D	0.01	-5.1191	6.5924	0.22654	0.0716:0.1294:0.6648:0.1342	.	86;86	F5GXZ0;Q9BT40	.;INP5K_HUMAN	M	10;10;86;10;86;10	ENSP00000385177:I10M;ENSP00000318476:I10M;ENSP00000440147:I86M	ENSP00000318476:I10M	I	-	3	3	INPP5K	1363500	1.000000	0.71417	0.968000	0.41197	0.290000	0.27261	0.792000	0.26929	0.748000	0.32831	0.462000	0.41574	ATC	INPP5K	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.483	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5K	HGNC	protein_coding	OTTHUMT00000319381.4	G			1416750	-1	no_errors	ENST00000421807	ensembl	human	known	70_37	missense	SNP	0.997	C	C	1416750	G	C	1416750	3	2	160	1	0	0	0	0	1	0	0	0	7780	1280	45	1	1128	1	INPP5K	17	1416750	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	516196	1416750	79778460	1748	30021										
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840862	1840862	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggatgtaggtgatgttgttcGagtagatccacagggtgacc	15	6	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:1840862G>C	ENST00000331238.6	-	2	733	c.254C>G	c.(253-255)tCg>tGg	p.S85W		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GATGTTGTTCGAGTAGATCCA	0.652																																					GBM(68;949 1139 14865 32798 38342)												0													85	96	92					17																	1840862		2191	4286	6477	SO:0001583	missense	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.254C>G	17.37:g.1840862G>C	ENSP00000330631:p.Ser85Trp			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S85W	ENST00000331238.6	37	c.254	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525657	0.64860	.	.	ENSG00000185924	ENST00000331238	T	0.02682	4.2	5.49	5.49	0.81192	.	0.000000	0.38720	N	0.001596	T	0.15912	0.0383	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00071	-1.2131	10	0.56958	D	0.05	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	85	Q86UN2	R4RL1_HUMAN	W	85	ENSP00000330631:S85W	ENSP00000330631:S85W	S	-	2	0	RTN4RL1	1787612	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.062000	0.89475	2.606000	0.88127	0.650000	0.86243	TCG	RTN4RL1	-	smart_Leu-rich_rpt_typical-subtyp		0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	G	NM_178568		1840862	-1	no_errors	ENST00000331238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1840862	G	C	1840862	3	2	160	1	0	0	0	0	1	0	0	0	13761	1059	37	1	1075	1	RTN4RL1	17	1840862	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	424112	1840862	79354348	1749	30022										
SMG6	23293	genome.wustl.edu	37	chr17	2196193	2196193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttcccataattcgctgtatCactggcttgctcccggtacc	7	14	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:2196193C>T	ENST00000263073.6	-	5	2280	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	SMG6_ENST00000544865.1_Missense_Mutation_p.D713N	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	744					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCGCTGTATCACTGGCTTGC	0.453																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													143	133	137					17																	2196193		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2230G>A	17.37:g.2196193C>T	ENSP00000263073:p.Asp744Asn		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.D744N	ENST00000263073.6	37	c.2230	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776753	0.90195	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.10763	2.84;2.84	5.26	5.26	0.73747	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	D	0.64042	0.921	T	0.00668	-1.1618	10	0.54805	T	0.06	-9.9026	18.8613	0.92273	0.0:1.0:0.0:0.0	.	744	Q86US8	EST1A_HUMAN	N	744;713	ENSP00000263073:D744N;ENSP00000443920:D713N	ENSP00000263073:D744N	D	-	1	0	SMG6	2142943	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	6.027000	0.70881	2.469000	0.83416	0.467000	0.42956	GAT	SMG6	-	NULL		0.453	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2196193	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2196193	C	T	2196193	3	4	160	1	0	0	0	0	1	0	0	0	14827	826	29	1	2089	1	SMG6	17	2196193	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	355331	2196193	78999017	1750	30023										
METT10D	79066	genome.wustl.edu	37	chr17	2381091	2381091	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactgtgggaattagtctctCcaatggaatatcaatagaaa	8	6	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:2381091C>G	ENST00000263092.6	-	3	344	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	73							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATTAGTCTCTCCAATGGAATA	0.428																																																	0													143	138	140					17																	2381091		1839	4087	5926	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.217G>C	17.37:g.2381091C>G	ENSP00000263092:p.Glu73Gln		D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	p.E73Q	ENST00000263092.6	37	c.217	CCDS42232.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.090151	0.94149	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.17854	2.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	N	0.04746	-0.17	0.80722	D	1	B;D	0.69078	0.431;0.997	B;D	0.70227	0.144;0.968	T	0.24440	-1.0160	10	0.42905	T	0.14	-13.8636	18.1377	0.89624	0.0:1.0:0.0:0.0	.	73;73	Q86W50-2;Q86W50	.;MET16_HUMAN	Q	73	ENSP00000263092:E73Q	ENSP00000263092:E73Q	E	-	1	0	METTL16	2327841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.890000	0.99128	0.650000	0.86243	GAG	METTL16	-	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D		0.428	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	C	NM_024086		2381091	-1	no_errors	ENST00000263092	ensembl	human	known	70_37	missense	SNP	1.000	G	G	2381091	C	G	2381091	3	3	160	1	0	0	0	0	1	0	0	0	9513	864	30	1	1503	1	METT10D	17	2381091	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	184898	2381091	78814119	1751	30024										
OR3A3	8392	genome.wustl.edu	37	chr17	3324457	3324457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctcttccagctctcctgctCcagcacccaactcaatgagc	6	18	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:3324457C>G	ENST00000291231.1	+	1	596	c.596C>G	c.(595-597)tCc>tGc	p.S199C		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	199					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CTCTCCTGCTCCAGCACCCAA	0.552																																																	0													73	70	71					17																	3324457		2203	4300	6503	SO:0001583	missense	8392			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.596C>G	17.37:g.3324457C>G	ENSP00000291231:p.Ser199Cys		Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S199C	ENST00000291231.1	37	c.596	CCDS11025.1	17	.	.	.	.	.	.	.	.	.	.	.	14.02	2.409739	0.42715	.	.	ENSG00000159961	ENST00000291231	T	0.00262	8.4	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.91872	3.25	0.24066	N	0.99599	D	0.89917	1.0	D	0.97110	1.0	T	0.32481	-0.9905	9	0.87932	D	0	.	12.7232	0.57154	0.0:1.0:0.0:0.0	.	199	P47888	OR3A3_HUMAN	C	199	ENSP00000291231:S199C	ENSP00000291231:S199C	S	+	2	0	OR3A3	3271207	0.000000	0.05858	0.914000	0.36105	0.991000	0.79684	-0.150000	0.10189	1.692000	0.51112	0.650000	0.86243	TCC	OR3A3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.552	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A3	HGNC	protein_coding	OTTHUMT00000207309.1	C			3324457	1	no_errors	ENST00000291231	ensembl	human	known	70_37	missense	SNP	0.877	G	G	3324457	C	G	3324457	3	3	160	1	0	0	0	0	1	0	0	0	11063	855	30	1	598	1	OR3A3	17	3324457	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	943366	3324457	77870753	1752	30025										
CAMKK1	84254	genome.wustl.edu	37	chr17	3773109	3773109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgaccttgatgtctggcaCcccaattctcgtctcgggat	9	15	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:3773109C>T	ENST00000348335.2	-	13	1346	c.1198G>A	c.(1198-1200)Gtg>Atg	p.V400M	CAMKK1_ENST00000381769.2_Missense_Mutation_p.V427M|CAMKK1_ENST00000381771.2_Missense_Mutation_p.V438M|CAMKK1_ENST00000158166.5_Missense_Mutation_p.V438M	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ATGTCTGGCACCCCAATTCTC	0.557																																																	0													152	137	142					17																	3773109		2203	4300	6503	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1198G>A	17.37:g.3773109C>T	ENSP00000323118:p.Val400Met		Q9BQH3	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.V438M	ENST00000348335.2	37	c.1312	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583689	0.28268	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.63	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.192882	0.45361	D	0.000377	T	0.39835	0.1093	N	0.16368	0.405	0.45403	D	0.998385	P;P	0.36599	0.504;0.56	P;P	0.46208	0.458;0.507	T	0.12243	-1.0555	10	0.25751	T	0.34	-27.3828	12.856	0.57886	0.0:0.9208:0.0:0.0792	.	438;400	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	M	427;400;438;438	ENSP00000371188:V427M;ENSP00000323118:V400M;ENSP00000371190:V438M;ENSP00000158166:V438M	ENSP00000158166:V438M	V	-	1	0	CAMKK1	3719858	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.692000	0.47018	2.826000	0.97356	0.655000	0.94253	GTG	CAMKK1	-	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		0.557	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	C	NM_032294, NM_172206, NM_172207		3773109	-1	no_errors	ENST00000381771	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3773109	C	T	3773109	3	4	160	1	0	0	0	0	1	0	0	0	2611	507	18	4	339	4	CAMKK1	17	3773109	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	448652	3773109	77422101	1753	30026										
ZZEF1	23140	genome.wustl.edu	37	chr17	3999949	3999949	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggcagattcagttccggtaGaaaaaatagtgctggctctg	12	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:3999949G>C	ENST00000381638.2	-	10	1842	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	573							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTTCCGGTAGAAAAAATAGT	0.353																																																	0													103	112	109					17																	3999949		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1718C>G	17.37:g.3999949G>C	ENSP00000371051:p.Ser573Cys		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.S573C	ENST00000381638.2	37	c.1718	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273814	0.80580	.	.	ENSG00000074755	ENST00000381638	T	0.25414	1.8	5.73	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.32530	0.975	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.916	T	0.36625	-0.9740	10	0.87932	D	0	-10.8092	16.2356	0.82371	0.0:0.1329:0.8671:0.0	.	573;573	O43149-3;O43149	.;ZZEF1_HUMAN	C	573	ENSP00000371051:S573C	ENSP00000371051:S573C	S	-	2	0	ZZEF1	3946698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.080000	0.76837	1.541000	0.49316	0.555000	0.69702	TCT	ZZEF1	-	NULL		0.353	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3999949	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3999949	G	C	3999949	3	2	160	1	0	0	0	0	1	0	0	0	18285	942	33	1	7351	1	ZZEF1	17	3999949	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	226840	3999949	77195261	1754	30027										
ARRB2	409	genome.wustl.edu	37	chr17	4622635	4622635	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacaccataaccccactgctCagcgacaaccgggagaagcg	9	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4622635C>G	ENST00000269260.2	+	11	1070	c.837C>G	c.(835-837)ctC>ctG	p.L279L	ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000572457.1_Silent_p.L87L|ARRB2_ENST00000571206.1_Silent_p.L87L|ARRB2_ENST00000574954.1_Silent_p.L87L|ARRB2_ENST00000346341.2_Silent_p.L264L|ARRB2_ENST00000412477.3_Silent_p.L300L|ARRB2_ENST00000381488.6_Silent_p.L264L	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	279	Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCCACTGCTCAGCGACAACC	0.607																																																	0													96	87	90					17																	4622635		2203	4300	6503	SO:0001819	synonymous_variant	409				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.837C>G	17.37:g.4622635C>G			B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.L279	ENST00000269260.2	37	c.837	CCDS11050.1	17																																																																																			ARRB2	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.607	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRB2	HGNC	protein_coding	OTTHUMT00000439552.1	C	NM_004313		4622635	1	no_errors	ENST00000269260	ensembl	human	known	70_37	silent	SNP	0.984	G	G	4622635	C	G	4622635	2	3	160	1	0	0	0	0	0	0	0	1	982	813	29	1		1	ARRB2	17	4622635	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	622686	4622635	76572575	1755	30028										
VMO1	284013	genome.wustl.edu	37	chr17	4688890	4688890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtcgtgggtgcctccacgcGaagcgagaaagccactaggt	15	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4688890G>A	ENST00000328739.5	-	3	455	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000416307.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	126						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCTCCACGCGAAGCGAGAAA	0.657																																																	0													51	45	47					17																	4688890		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.376C>T	17.37:g.4688890G>A	ENSP00000328397:p.Arg126Cys		C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	pfam_VOMI,superfamily_VOMI	p.R126C	ENST00000328739.5	37	c.376	CCDS11055.1	17	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093467	0.56075	.	.	ENSG00000182853	ENST00000328739	T	0.51325	0.71	5.0	4.02	0.46733	.	0.055348	0.64402	D	0.000004	T	0.70919	0.3279	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75780	-0.3197	10	0.87932	D	0	-27.9606	10.875	0.46906	0.0:0.0:0.6586:0.3414	.	126	Q7Z5L0	VMO1_HUMAN	C	126	ENSP00000328397:R126C	ENSP00000328397:R126C	R	-	1	0	VMO1	4635630	0.936000	0.31750	0.806000	0.32338	0.310000	0.27922	1.749000	0.38319	1.226000	0.43582	0.561000	0.74099	CGC	VMO1	-	pfam_VOMI,superfamily_VOMI		0.657	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	HGNC	protein_coding	OTTHUMT00000439587.1	G	NM_182566		4688890	-1	no_errors	ENST00000328739	ensembl	human	known	70_37	missense	SNP	0.916	A	A	4688890	G	A	4688890	3	1	160	1	0	0	0	0	1	0	0	0	17208	1058	37	1	236	1	VMO1	17	4688890	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	66255	4688890	76506320	1756	30029										
VMO1	284013	genome.wustl.edu	37	chr17	4689317	4689317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatcccattcagtgcagtgtCgtcgccaggaatgccttggg	13	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4689317C>T	ENST00000328739.5	-	2	305	c.226G>A	c.(226-228)Gac>Aac	p.D76N	VMO1_ENST00000441199.2_Missense_Mutation_p.D76N|VMO1_ENST00000354194.4_Intron|GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000416307.2_Missense_Mutation_p.D76N	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	76						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AGTGCAGTGTCGTCGCCAGGA	0.617																																																	0													747	677	701					17																	4689317		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.226G>A	17.37:g.4689317C>T	ENSP00000328397:p.Asp76Asn		C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	pfam_VOMI,superfamily_VOMI	p.D76N	ENST00000328739.5	37	c.226	CCDS11055.1	17	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134333	0.56828	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.54071	0.59;0.59;0.59	4.43	4.43	0.53597	.	0.050411	0.85682	D	0.000000	T	0.66733	0.2819	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.97110	0.94;1.0;0.804	T	0.67538	-0.5645	10	0.51188	T	0.08	-37.0618	12.404	0.55428	0.0:1.0:0.0:0.0	.	76;76;76	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	N	76	ENSP00000328397:D76N;ENSP00000390450:D76N;ENSP00000408166:D76N	ENSP00000328397:D76N	D	-	1	0	VMO1	4636057	0.998000	0.40836	0.918000	0.36340	0.014000	0.08584	4.116000	0.57871	2.286000	0.76751	0.563000	0.77884	GAC	VMO1	-	pfam_VOMI,superfamily_VOMI		0.617	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	HGNC	protein_coding	OTTHUMT00000439587.1	C	NM_182566		4689317	-1	no_errors	ENST00000328739	ensembl	human	known	70_37	missense	SNP	0.997	T	T	4689317	C	T	4689317	3	4	160	1	0	0	0	0	1	0	0	0	17208	884	31	1	424	1	VMO1	17	4689317	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	427	4689317	76505893	1757	30030										
ENO3	2027	genome.wustl.edu	37	chr17	4859940	4859940	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggggagactgaggacacattCattgctgaccttgtggtggg	16	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4859940C>T	ENST00000323997.6	+	10	1272	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	ENO3_ENST00000519584.1_Silent_p.F337F|ENO3_ENST00000518175.1_Silent_p.F380F	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	380					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGGACACATTCATTGCTGACC	0.562											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	110	111					17																	4859940		2203	4300	6503	SO:0001819	synonymous_variant	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1140C>T	17.37:g.4859940C>T		622	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.F380	ENST00000323997.6	37	c.1140	CCDS11062.1	17																																																																																			ENO3	-	pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase		0.562	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	C			4859940	1	no_errors	ENST00000323997	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4859940	C	T	4859940	2	4	160	1	0	0	0	0	0	0	0	1	5135	825	29	1		1	ENO3	17	4859940	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	170623	4859940	76335270	1758	30031										
SPAG7	9552	genome.wustl.edu	37	chr17	4863765	4863765	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacactcacagtatgctcctCtcgatcttgttcattggctg	8	12	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4863765C>G	ENST00000206020.3	-	3	298	c.231G>C	c.(229-231)gaG>gaC	p.E77D	SPAG7_ENST00000575142.1_Missense_Mutation_p.E66D|SPAG7_ENST00000573366.1_Missense_Mutation_p.E26D	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	77	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GTATGCTCCTCTCGATCTTGT	0.552																																																	0													155	145	148					17																	4863765		1954	4157	6111	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.231G>C	17.37:g.4863765C>G	ENSP00000206020:p.Glu77Asp		Q96EU5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd	p.E77D	ENST00000206020.3	37	c.231	CCDS42240.1	17	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869004	0.51588	.	.	ENSG00000091640	ENST00000206020	T	0.41758	0.99	5.23	5.23	0.72850	Single-stranded nucleic acid binding R3H (3);	0.106113	0.64402	D	0.000005	T	0.45357	0.1338	M	0.79123	2.44	0.40920	D	0.984305	P	0.38677	0.642	B	0.36808	0.233	T	0.49698	-0.8912	10	0.39692	T	0.17	-14.0373	14.1767	0.65546	0.0:1.0:0.0:0.0	.	77	O75391	SPAG7_HUMAN	D	77	ENSP00000206020:E77D	ENSP00000206020:E77D	E	-	3	2	SPAG7	4804488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.661000	0.46758	2.723000	0.93209	0.650000	0.86243	GAG	SPAG7	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd		0.552	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG7	HGNC	protein_coding	OTTHUMT00000438747.1	C	NM_004890		4863765	-1	no_errors	ENST00000206020	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4863765	C	G	4863765	3	3	160	1	0	0	0	0	1	0	0	0	15013	912	32	1	472	1	SPAG7	17	4863765	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3825	4863765	76331445	1759	30032										
CAMTA2	23125	genome.wustl.edu	37	chr17	4883075	4883075	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgcttggagcttcgtcactGatgagttctcccataaggtc	10	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4883075G>A	ENST00000348066.3	-	9	1665	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	CAMTA2_ENST00000361571.5_Silent_p.I513I|CAMTA2_ENST00000381311.5_Silent_p.I516I|CAMTA2_ENST00000358183.4_Silent_p.I514I|CAMTA2_ENST00000414043.3_Silent_p.I537I|CAMTA2_ENST00000572543.1_Silent_p.I519I|CAMTA2_ENST00000571831.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	514					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTCGTCACTGATGAGTTCTC	0.562																																																	0													138	135	136					17																	4883075		2203	4300	6503	SO:0001819	synonymous_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1542C>T	17.37:g.4883075G>A			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.I537	ENST00000348066.3	37	c.1611	CCDS11063.1	17																																																																																			CAMTA2	-	NULL		0.562	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	G	NM_015099		4883075	-1	no_errors	ENST00000414043	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4883075	G	A	4883075	2	1	160	1	0	0	0	0	0	0	0	1	2619	1280	45	1		1	CAMTA2	17	4883075	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	19310	4883075	76312135	1760	30033										
KIF1C	10749	genome.wustl.edu	37	chr17	4904074	4904074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcctgcccctcagccatcatCaatcctaaacagagcaagga	6	15	3	1	rs377337240		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4904074C>G	ENST00000320785.5	+	4	471	c.114C>G	c.(112-114)atC>atG	p.I38M		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	38	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CAGCCATCATCAATCCTAAAC	0.547																																					Melanoma(96;1023 1447 10250 19259 33730)												0								C	MET/ILE	0,4406		0,0,2203	160	144	149		114	2.9	1	17		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF1C	NM_006612.5	10	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	38/1104	4904074	1,13005	2203	4300	6503	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.114C>G	17.37:g.4904074C>G	ENSP00000320821:p.Ile38Met		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I38M	ENST00000320785.5	37	c.114	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130173	0.37630	0.0	1.16E-4	ENSG00000129250	ENST00000320785	D	0.88818	-2.43	3.92	2.93	0.34026	Kinesin, motor domain (4);	.	.	.	.	T	0.80899	0.4712	N	0.25060	0.705	0.35863	D	0.827613	B	0.30686	0.29	B	0.32762	0.152	T	0.81346	-0.0974	9	0.51188	T	0.08	.	9.0456	0.36345	0.0:0.8859:0.0:0.1141	.	38	O43896	KIF1C_HUMAN	M	38	ENSP00000320821:I38M	ENSP00000320821:I38M	I	+	3	3	KIF1C	4844798	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.479000	0.06567	1.186000	0.42985	0.591000	0.81541	ATC	KIF1C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.547	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	C			4904074	1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4904074	C	G	4904074	3	3	160	1	0	0	0	0	1	0	0	0	8305	816	29	1	120	1	KIF1C	17	4904074	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	20999	4904074	76291136	1761	30034										
KIF1C	10749	genome.wustl.edu	37	chr17	4916990	4916990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgaagaccctctgatgtctGagtgtctgctctaccacatc	8	13	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:4916990G>C	ENST00000320785.5	+	17	1891	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	512					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTGATGTCTGAGTGTCTGCT	0.592																																					Melanoma(96;1023 1447 10250 19259 33730)												0													78	60	66					17																	4916990		2203	4300	6503	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1534G>C	17.37:g.4916990G>C	ENSP00000320821:p.Glu512Gln		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E512Q	ENST00000320785.5	37	c.1534	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.159093	0.94686	.	.	ENSG00000129250	ENST00000320785	T	0.77489	-1.1	5.44	5.44	0.79542	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.	.	.	.	D	0.87676	0.6237	M	0.75884	2.315	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	D	0.88849	0.3318	9	0.87932	D	0	.	16.7561	0.85499	0.0:0.0:1.0:0.0	.	512	O43896	KIF1C_HUMAN	Q	512	ENSP00000320821:E512Q	ENSP00000320821:E512Q	E	+	1	0	KIF1C	4857714	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.869000	0.99810	2.550000	0.86006	0.462000	0.41574	GAG	KIF1C	-	superfamily_SMAD_FHA_domain		0.592	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	G			4916990	1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4916990	G	C	4916990	3	2	160	1	0	0	0	0	1	0	0	0	8305	1291	45	1	1592	1	KIF1C	17	4916990	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	12916	4916990	76278220	1762	30035										
NLRP1	22861	genome.wustl.edu	37	chr17	5418805	5418805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttactgacctatgcgggctgGagggatcagagtagttgcag	15	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:5418805G>C	ENST00000572272.1	-	16	4089	c.4090C>G	c.(4090-4092)Cca>Gca	p.P1364A	NLRP1_ENST00000354411.3_Missense_Mutation_p.P1334A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1290A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1320A|NLRP1_ENST00000345221.3_Missense_Mutation_p.P1320A|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000262467.5_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1364					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATGCGGGCTGGAGGGATCAGA	0.512																																																	0													64	69	67					17																	5418805		2002	4168	6170	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4090C>G	17.37:g.5418805G>C	ENSP00000460475:p.Pro1364Ala		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.P1364A	ENST00000572272.1	37	c.4090	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215504	0.22373	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.71341	-0.43;-0.56	4.17	1.08	0.20341	.	0.829123	0.10149	N	0.709911	T	0.68007	0.2954	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.50156	0.932;0.932;0.889;0.932	P;P;B;P	0.50659	0.647;0.647;0.444;0.647	T	0.54669	-0.8259	10	0.23302	T	0.38	.	3.6053	0.08039	0.208:0.0:0.5951:0.1969	.	1290;1334;1364;1320	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	A	1364;1334;1320	ENSP00000346390:P1334A;ENSP00000324366:P1320A	ENSP00000269280:P1364A	P	-	1	0	NLRP1	5359529	0.000000	0.05858	0.002000	0.10522	0.215000	0.24574	-0.185000	0.09684	0.310000	0.22990	0.650000	0.86243	CCA	NLRP1	-	NULL		0.512	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5418805	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.002	C	C	5418805	G	C	5418805	3	2	160	1	0	0	0	0	1	0	0	0	10495	1174	41	1	402	1	NLRP1	17	5418805	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	501815	5418805	75776405	1763	30036										
NLRP1	22861	genome.wustl.edu	37	chr17	5436619	5436619	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggggccaggcaccgtggctCttgcctgcaatctcagcaat	12	13	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:5436619C>G	ENST00000572272.1	-	10	3133				NLRP1_ENST00000571307.1_Intron|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.K1046N			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				caccgtggctcttgcctgcaa	0.527																																																	0													108	97	101					17																	5436619		1327	2309	3636	SO:0001627	intron_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3133+4G>C	17.37:g.5436619C>G			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN,prints_Disease_R	p.K1046N	ENST00000572272.1	37	c.3138	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	0.712	-0.786606	0.02907	.	.	ENSG00000091592	ENST00000544378;ENST00000262467	T;T	0.71103	-0.54;-0.54	0.561	-1.12	0.09808	.	.	.	.	.	T	0.35219	0.0924	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.28784	0.094	T	0.32561	-0.9902	8	0.15952	T	0.53	.	.	.	.	.	1046	E9PE50	.	N	1046	ENSP00000442029:K1046N;ENSP00000262467:K1046N	ENSP00000262467:K1046N	K	-	3	2	NLRP1	5377343	0.000000	0.05858	0.002000	0.10522	0.197000	0.23852	-0.366000	0.07563	-0.442000	0.07190	0.306000	0.20318	AAG	NLRP1	-	NULL		0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5436619	-1	no_errors	ENST00000262467	ensembl	human	known	70_37	missense	SNP	0.003	G	G	5436619	C	G	5436619	1	3	160	0	1	0	0	0	0	0	0	0	10495	912	32	1		1	NLRP1	17	5436619	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	17814	5436619	75758591	1764	30037										
GPS2	2874	genome.wustl.edu	37	chr17	7216714	7216714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcacctgtctgagtgggctGaaagtggccatgcacagcat	12	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7216714G>C	ENST00000380728.2	-	8	1009	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	GPS2_ENST00000391950.3_Missense_Mutation_p.Q237E|GPS2_ENST00000389167.5_Missense_Mutation_p.Q237E|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	237					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGAGTGGGCTGAAAGTGGCCA	0.547											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93	96	95					17																	7216714		2203	4300	6503	SO:0001583	missense	2874			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.709C>G	17.37:g.7216714G>C	ENSP00000370104:p.Gln237Glu	640	B4DXA1|Q6FHM8	Missense_Mutation	SNP	NULL	p.Q237E	ENST00000380728.2	37	c.709	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543075	0.45280	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.43294	0.95;0.95	4.74	3.77	0.43336	.	0.178818	0.38492	U	0.001674	T	0.24812	0.0602	N	0.14661	0.345	0.30835	N	0.736249	B	0.23058	0.079	B	0.16289	0.015	T	0.17258	-1.0375	10	0.49607	T	0.09	-0.5471	10.1262	0.42652	0.0944:0.0:0.9056:0.0	.	237	Q13227	GPS2_HUMAN	E	237	ENSP00000370104:Q237E;ENSP00000379841:Q237E	ENSP00000319371:Q237E	Q	-	1	0	GPS2	7157438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.455000	0.44988	1.212000	0.43366	0.655000	0.94253	CAG	GPS2	-	NULL		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	G	NM_004489		7216714	-1	no_errors	ENST00000380728	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7216714	G	C	7216714	3	2	160	1	0	0	0	0	1	0	0	0	6753	1299	45	1	290	1	GPS2	17	7216714	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1780095	7216714	73978496	1765	30038										
ZBTB4	57659	genome.wustl.edu	37	chr17	7365840	7365840	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggatgaggagacttgcatctCttggggggcttcctccttga	14	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7365840C>G	ENST00000311403.4	-	4	2800	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E821Q	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	821					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACTTGCATCTCTTGGGGGGCT	0.642																																																	0													32	34	34					17																	7365840		2203	4300	6503	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2461G>C	17.37:g.7365840C>G	ENSP00000307858:p.Glu821Gln		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E821Q	ENST00000311403.4	37	c.2461	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808280	0.70797	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	5.73	5.73	0.89815	.	0.181968	0.38720	N	0.001588	T	0.08582	0.0213	N	0.24115	0.695	0.29921	N	0.822775	D	0.64830	0.994	P	0.52554	0.702	T	0.01202	-1.1420	10	0.72032	D	0.01	-20.4107	16.8192	0.85741	0.0:1.0:0.0:0.0	.	821	Q9P1Z0	ZBTB4_HUMAN	Q	821	ENSP00000307858:E821Q;ENSP00000369973:E821Q	ENSP00000307858:E821Q	E	-	1	0	ZBTB4	7306564	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.777000	0.47717	2.722000	0.93159	0.655000	0.94253	GAG	ZBTB4	-	NULL		0.642	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7365840	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	missense	SNP	0.998	G	G	7365840	C	G	7365840	3	3	160	1	0	0	0	0	1	0	0	0	17571	922	32	1	584	1	ZBTB4	17	7365840	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	149126	7365840	73829370	1766	30039										
POLR2A	5430	genome.wustl.edu	37	chr17	7416923	7416923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaactacacacctaccagCcctaactacagcccaacctc	2	21	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7416923C>T	ENST00000322644.6	+	29	5739	c.5340C>T	c.(5338-5340)agC>agT	p.S1780S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1780	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACCTACCAGCCCTAACTACA	0.532																																																	0													566	554	558					17																	7416923		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5340C>T	17.37:g.7416923C>T			A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S1780	ENST00000322644.6	37	c.5340	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_II_repeat_euk		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7416923	1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.997	T	T	7416923	C	T	7416923	2	4	160	1	0	0	0	0	0	0	0	1	12238	738	26	4		4	POLR2A	17	7416923	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	51083	7416923	73778287	1767	30040										
EIF4A1	1973	genome.wustl.edu	37	chr17	7478464	7478464	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgattgctcaagcccaatCtgggactgggaaaacggcca	12	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7478464C>A	ENST00000293831.8	+	4	249	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	SNORA67_ENST00000384423.1_RNA|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.S78Y|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000380512.5_Missense_Mutation_p.S62Y|EIF4A1_ENST00000582746.1_Missense_Mutation_p.S78Y|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	78	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAAGCCCAATCTGGGACTGGG	0.433																																					Melanoma(120;278 1668 15796 27423 46368)												0													116	112	113					17																	7478464		2203	4300	6503	SO:0001583	missense	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.233C>A	17.37:g.7478464C>A	ENSP00000293831:p.Ser78Tyr		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S78Y	ENST00000293831.8	37	c.233	CCDS11113.1	17	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964928	0.53507	.	.	ENSG00000161960	ENST00000293831;ENST00000380512	T;T	0.15487	2.42;2.42	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.051826	0.85682	D	0.000000	T	0.54078	0.1836	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.66097	-0.6008	10	0.87932	D	0	-17.497	16.9642	0.86281	0.0:1.0:0.0:0.0	.	78;78;78	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	Y	78;62	ENSP00000293831:S78Y;ENSP00000369881:S62Y	ENSP00000293831:S78Y	S	+	2	0	EIF4A1	7419188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.628000	0.89032	0.561000	0.74099	TCT	EIF4A1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.433	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	C	NM_001416		7478464	1	no_errors	ENST00000293831	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7478464	C	A	7478464	3	1	160	1	0	0	0	0	1	0	0	0	5036	913	32	3	247	3	EIF4A1	17	7478464	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	61541	7478464	73716746	1768	30041										
DNAH2	146754	genome.wustl.edu	37	chr17	7643227	7643227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggggtatcctggatgtcaaGaacacctgttggcatgaaga	14	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7643227G>C	ENST00000572933.1	+	9	2807	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N	DNAH2_ENST00000570791.1_Missense_Mutation_p.K531N|DNAH2_ENST00000389173.2_Missense_Mutation_p.K449N|DNAH2_ENST00000082259.3_Missense_Mutation_p.K531N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	449	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGATGTCAAGAACACCTGTT	0.542																																																	0													72	64	67					17																	7643227		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1347G>C	17.37:g.7643227G>C	ENSP00000458355:p.Lys449Asn		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K449N	ENST00000572933.1	37	c.1347	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216454	0.58452	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56444	0.46;0.46	4.85	3.88	0.44766	Dynein heavy chain, domain-1 (1);	0.120660	0.52532	D	0.000068	T	0.72811	0.3507	M	0.85373	2.75	0.25549	N	0.987107	D;D	0.89917	0.979;1.0	D;D	0.80764	0.965;0.994	T	0.66244	-0.5972	10	0.56958	D	0.05	.	12.1064	0.53816	0.0846:0.0:0.9154:0.0	.	449;531	Q9P225;Q9P225-3	DYH2_HUMAN;.	N	449;449;531	ENSP00000373825:K449N;ENSP00000082259:K531N	ENSP00000082259:K531N	K	+	3	2	DNAH2	7583952	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.095000	0.57728	1.277000	0.44412	-0.142000	0.14014	AAG	DNAH2	-	pfam_Dynein_heavy_dom-1		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7643227	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7643227	G	C	7643227	3	2	160	1	0	0	0	0	1	0	0	0	4612	933	33	1	1377	1	DNAH2	17	7643227	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	164763	7643227	73551983	1769	30042										
KDM6B	23135	genome.wustl.edu	37	chr17	7750495	7750495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgcgcacccccctggccacCggctggtcccggctgctccc	11	23	0	0	rs201121189		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7750495C>T	ENST00000448097.2	+	10	1313	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	KDM6B_ENST00000254846.5_Missense_Mutation_p.R328W			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	328	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCTGGCCACCGGCTGGTCCC	0.682																																																	0								C	TRP/ARG	0,4356		0,0,2178	36	47	44		982	5.4	1	17		44	6,8496		0,6,4245	yes	missense	KDM6B	NM_001080424.1	101	0,6,6423	TT,TC,CC		0.0706,0.0,0.0467	probably-damaging	328/1683	7750495	6,12852	2178	4251	6429	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.982C>T	17.37:g.7750495C>T	ENSP00000412513:p.Arg328Trp		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R328W	ENST00000448097.2	37	c.982		17	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512143	0.44660	0.0	7.06E-4	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08720	3.06;3.06	5.36	5.36	0.76844	.	0.365001	0.26146	N	0.026066	T	0.16171	0.0389	N	0.14661	0.345	0.31241	N	0.695169	D	0.89917	1.0	D	0.70016	0.967	T	0.02560	-1.1141	10	0.72032	D	0.01	-4.461	18.2434	0.89977	0.0:1.0:0.0:0.0	.	328	O15054-1	.	W	328	ENSP00000254846:R328W;ENSP00000412513:R328W	ENSP00000254846:R328W	R	+	1	2	KDM6B	7691220	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.938000	0.28965	2.688000	0.91661	0.561000	0.74099	CGG	KDM6B	-	NULL		0.682	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	C	XM_043272		7750495	1	no_errors	ENST00000254846	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7750495	C	T	7750495	3	4	160	1	0	0	0	0	1	0	0	0	8158	643	23	2	1008	2	KDM6B	17	7750495	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	107268	7750495	73444715	1770	30043										
CHD3	1107	genome.wustl.edu	37	chr17	7810527	7810527	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaaccaggaggaaaagccaGagaagaacagcagaattggg	13	6	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7810527G>C	ENST00000330494.7	+	31	4900	c.4750G>C	c.(4750-4752)Gag>Cag	p.E1584Q	CHD3_ENST00000380358.4_Missense_Mutation_p.E1643Q|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.E1584Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1584	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAAAAGCCAGAGAAGAACAG	0.567																																																	0													111	116	114					17																	7810527		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4750G>C	17.37:g.7810527G>C	ENSP00000332628:p.Glu1584Gln		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1584Q	ENST00000330494.7	37	c.4750	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816461	0.16607	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90676	-2.71;-2.66;-2.65	4.47	4.47	0.54385	.	0.142140	0.32218	N	0.006411	D	0.88089	0.6343	N	0.08118	0	0.34864	D	0.742925	D;B;B;B	0.57899	0.981;0.039;0.023;0.079	D;B;B;B	0.65140	0.932;0.064;0.029;0.047	D	0.90374	0.4383	10	0.42905	T	0.14	-31.452	12.3765	0.55283	0.0:0.1695:0.8304:0.0	.	160;1584;1584;1643	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	Q	1643;1584;1584	ENSP00000369716:E1643Q;ENSP00000350907:E1584Q;ENSP00000332628:E1584Q	ENSP00000332628:E1584Q	E	+	1	0	CHD3	7751252	0.979000	0.34478	1.000000	0.80357	0.915000	0.54546	0.481000	0.22260	2.471000	0.83476	0.407000	0.27541	GAG	CHD3	-	NULL		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7810527	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7810527	G	C	7810527	3	2	160	1	0	0	0	0	1	0	0	0	3331	943	33	1	5153	1	CHD3	17	7810527	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	60032	7810527	73384683	1771	30044										
TRAPPC1	58485	genome.wustl.edu	37	chr17	7833972	7833972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agagagcgaacataggagtcCagtcgggagcgaaagagctc	15	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:7833972C>T	ENST00000303731.4	-	4	505	c.390G>A	c.(388-390)ctG>ctA	p.L130L	CNTROB_ENST00000563694.1_5'Flank|CNTROB_ENST00000380262.3_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.L130L|CNTROB_ENST00000565740.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000380255.3_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	130					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				CATAGGAGTCCAGTCGGGAGC	0.567																																																	0													110	80	90					17																	7833972		2203	4300	6503	SO:0001819	synonymous_variant	58485			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"Trafficking protein particle complex"	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.390G>A	17.37:g.7833972C>T			D3DTR0	Silent	SNP	pfam_Sybindin,superfamily_Longin-like_dom	p.L130	ENST00000303731.4	37	c.390	CCDS11125.1	17																																																																																			TRAPPC1	-	pfam_Sybindin,superfamily_Longin-like_dom		0.567	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC1	HGNC	protein_coding	OTTHUMT00000226975.2	C	NM_021210		7833972	-1	no_errors	ENST00000303731	ensembl	human	known	70_37	silent	SNP	0.996	T	T	7833972	C	T	7833972	2	4	160	1	0	0	0	0	0	0	0	1	16487	581	21	4		4	TRAPPC1	17	7833972	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	23445	7833972	73361238	1772	30045										
PFAS	5198	genome.wustl.edu	37	chr17	8161487	8161487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcattgggtccatggaagctGaccacataagcaaggaggcc	13	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8161487G>C	ENST00000314666.6	+	11	1439	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	PFAS_ENST00000545834.1_Missense_Mutation_p.D12H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	436					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CATGGAAGCTGACCACATAAG	0.612																																																	0													70	69	69					17																	8161487		2203	4300	6503	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1306G>C	17.37:g.8161487G>C	ENSP00000313490:p.Asp436His		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.D436H	ENST00000314666.6	37	c.1306	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467678	0.26335	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.44881	1.43;0.91	5.78	2.69	0.31865	PurM, N-terminal-like (1);	0.700302	0.14653	N	0.306488	T	0.33556	0.0867	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29518	-1.0009	10	0.87932	D	0	-4.7777	9.3494	0.38129	0.2359:0.0:0.7641:0.0	.	436	O15067	PUR4_HUMAN	H	12;436	ENSP00000441706:D12H;ENSP00000313490:D436H	ENSP00000313490:D436H	D	+	1	0	PFAS	8102212	0.000000	0.05858	0.750000	0.31169	0.748000	0.42578	0.009000	0.13219	0.352000	0.24053	0.561000	0.74099	GAC	PFAS	-	superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth		0.612	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	G			8161487	1	no_errors	ENST00000314666	ensembl	human	known	70_37	missense	SNP	0.073	C	C	8161487	G	C	8161487	3	2	160	1	0	0	0	0	1	0	0	0	11778	1290	45	1	1344	1	PFAS	17	8161487	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	327515	8161487	73033723	1773	30046										
ODF4	146852	genome.wustl.edu	37	chr17	8248714	8248714	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccattaacatctggatcttcGagttggaaaggaatgtatcc	9	8	2	0	rs140528575		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8248714G>C	ENST00000328248.2	+	2	696	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	ODF4_ENST00000584943.1_Missense_Mutation_p.E55Q	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	170					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTGGATCTTCGAGTTGGAAAG	0.507																																																	0													296	259	272					17																	8248714		2203	4300	6503	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.508G>C	17.37:g.8248714G>C	ENSP00000331086:p.Glu170Gln		Q8J021	Missense_Mutation	SNP	NULL	p.E170Q	ENST00000328248.2	37	c.508	CCDS11140.1	17	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069366	0.20147	.	.	ENSG00000184650	ENST00000328248	T	0.27557	1.66	4.82	3.85	0.44370	.	0.000000	0.43747	D	0.000523	T	0.37758	0.1015	L	0.27053	0.805	0.28515	N	0.913373	D	0.89917	1.0	D	0.77004	0.989	T	0.11155	-1.0599	10	0.48119	T	0.1	-12.3446	8.9666	0.35881	0.101:0.0:0.899:0.0	.	170	Q2M2E3	ODFP4_HUMAN	Q	170	ENSP00000331086:E170Q	ENSP00000331086:E170Q	E	+	1	0	ODF4	8189439	1.000000	0.71417	0.675000	0.29917	0.667000	0.39255	2.573000	0.46007	1.259000	0.44117	0.514000	0.50259	GAG	ODF4	-	NULL		0.507	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF4	HGNC	protein_coding	OTTHUMT00000226996.1	G			8248714	1	no_errors	ENST00000328248	ensembl	human	known	70_37	missense	SNP	0.713	C	C	8248714	G	C	8248714	3	2	160	1	0	0	0	0	1	0	0	0	10857	1059	37	1	514	1	ODF4	17	8248714	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	87227	8248714	72946496	1774	30047										
MYH10	4628	genome.wustl.edu	37	chr17	8379172	8379172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacatcactggtcttactttCtgtgtcatcgtcggagagct	10	10	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8379172C>T	ENST00000269243.4	-	41	6019	c.5881G>A	c.(5881-5883)Gaa>Aaa	p.E1961K	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Missense_Mutation_p.E1992K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1982K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1977K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1961					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCTTACTTTCTGTGTCATCG	0.582																																																	0													185	172	177					17																	8379172		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5881G>A	17.37:g.8379172C>T	ENSP00000269243:p.Glu1961Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1982K	ENST00000269243.4	37	c.5944	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398430	0.62177	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86297	-2.07;-2.1;-2.1;-2.08	4.89	4.89	0.63831	.	0.049767	0.85682	D	0.000000	T	0.79986	0.4541	N	0.08118	0	0.58432	D	0.999995	B;P;B	0.36712	0.061;0.566;0.037	B;B;B	0.40825	0.066;0.341;0.028	D	0.83390	0.0017	10	0.72032	D	0.01	.	18.1874	0.89796	0.0:1.0:0.0:0.0	.	1970;1992;1961	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1961;1992;1982;1977	ENSP00000269243:E1961K;ENSP00000353590:E1992K;ENSP00000379539:E1982K;ENSP00000369315:E1977K	ENSP00000269243:E1961K	E	-	1	0	MYH10	8319897	1.000000	0.71417	0.972000	0.41901	0.819000	0.46315	7.177000	0.77650	2.681000	0.91329	0.655000	0.94253	GAA	MYH10	-	NULL		0.582	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8379172	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8379172	C	T	8379172	3	4	160	1	0	0	0	0	1	0	0	0	10053	922	32	1	53	1	MYH10	17	8379172	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	130458	8379172	72816038	1775	30048										
MYH10	4628	genome.wustl.edu	37	chr17	8390882	8390882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagcgcccgctgtttcctctCatcctccagctccgcctcga	7	19	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8390882C>T	ENST00000269243.4	-	34	4960	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1624K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1639K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1629K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1608					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTTTCCTCTCATCCTCCAGC	0.537																																																	0													203	205	204					17																	8390882		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4822G>A	17.37:g.8390882C>T	ENSP00000269243:p.Glu1608Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1629K	ENST00000269243.4	37	c.4885	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.542109	0.96474	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.05	5.05	0.67936	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97355	0.9966	10	0.87932	D	0	.	18.9576	0.92665	0.0:1.0:0.0:0.0	.	1617;1639;1608	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1608;1639;1629;1624	ENSP00000269243:E1608K;ENSP00000353590:E1639K;ENSP00000379539:E1629K;ENSP00000369315:E1624K	ENSP00000269243:E1608K	E	-	1	0	MYH10	8331607	1.000000	0.71417	0.988000	0.46212	0.807000	0.45602	7.609000	0.82925	2.789000	0.95967	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_tail		0.537	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8390882	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8390882	C	T	8390882	3	4	160	1	0	0	0	0	1	0	0	0	10053	835	29	1	1140	1	MYH10	17	8390882	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11710	8390882	72804328	1776	30049										
MYH10	4628	genome.wustl.edu	37	chr17	8424545	8424545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccttcttggttttatatgcGgagccaaaagctgtctcagt	9	10	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:8424545G>A	ENST00000269243.4	-	16	2061	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	MYH10_ENST00000379980.4_Silent_p.S657S|MYH10_ENST00000396239.1_Silent_p.S662S|MYH10_ENST00000360416.3_Silent_p.S672S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	641	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S641S(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTATATGCGGAGCCAAAAG	0.468																																																	1	Substitution - coding silent(1)	large_intestine(1)											172	164	167					17																	8424545		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1923C>T	17.37:g.8424545G>A			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S662	ENST00000269243.4	37	c.1986	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	G			8424545	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	0.029	A	A	8424545	G	A	8424545	2	1	160	1	0	0	0	0	0	0	0	1	10053	1103	39	2		2	MYH10	17	8424545	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	33663	8424545	72770665	1777	30050										
USP43	124739	genome.wustl.edu	37	chr17	9603499	9603499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcttctcagggttttgcatCtcaggaggccaggaggccct	12	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:9603499C>T	ENST00000285199.7	+	10	1564	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.L490F	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	490	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGTTTTGCATCTCAGGAGGCC	0.582																																																	0													52	50	50					17																	9603499		1936	4150	6086	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1468C>T	17.37:g.9603499C>T	ENSP00000285199:p.Leu490Phe		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L490F	ENST00000285199.7	37	c.1468	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200648	0.22121	.	.	ENSG00000154914	ENST00000285199	T	0.11277	2.79	5.03	2.98	0.34508	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.372251	0.26539	N	0.023819	T	0.09730	0.0239	L	0.49126	1.545	0.48087	D	0.999587	B;B;B	0.32604	0.377;0.102;0.314	B;B;B	0.36186	0.219;0.079;0.117	T	0.12889	-1.0530	10	0.10111	T	0.7	-17.9212	7.6408	0.28292	0.164:0.7485:0.0:0.0875	.	490;179;490	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	F	490	ENSP00000285199:L490F	ENSP00000285199:L490F	L	+	1	0	USP43	9544224	0.923000	0.31300	0.996000	0.52242	0.351000	0.29236	0.456000	0.21859	0.654000	0.30846	0.563000	0.77884	CTC	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.582	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9603499	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.996	T	T	9603499	C	T	9603499	3	4	160	1	0	0	0	0	1	0	0	0	17105	913	32	1	1506	1	USP43	17	9603499	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1178954	9603499	71591711	1778	30051										
MYH3	4621	genome.wustl.edu	37	chr17	10536037	10536037	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgatctttctatcaatttctGatttcacttgtgtcaattca	4	9	7	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:10536037G>A	ENST00000583535.1	-	34	4799	c.4712C>T	c.(4711-4713)tCa>tTa	p.S1571L	MYH3_ENST00000226209.7_Missense_Mutation_p.S1571L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1571					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCAATTTCTGATTTCACTTG	0.458																																																	0													202	199	200					17																	10536037		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4712C>T	17.37:g.10536037G>A	ENSP00000464317:p.Ser1571Leu		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1571L	ENST00000583535.1	37	c.4712	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760181	0.69763	.	.	ENSG00000109063	ENST00000226209	T	0.79554	-1.28	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.85444	0.5698	M	0.86953	2.85	0.36243	D	0.853386	B	0.30870	0.298	B	0.32762	0.152	D	0.87606	0.2500	9	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1571	P11055	MYH3_HUMAN	L	1571	ENSP00000226209:S1571L	ENSP00000226209:S1571L	S	-	2	0	MYH3	10476762	0.298000	0.24417	0.998000	0.56505	0.965000	0.64279	3.039000	0.49791	2.885000	0.99019	0.655000	0.94253	TCA	MYH3	-	pfam_Myosin_tail		0.458	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10536037	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	0.998	A	A	10536037	G	A	10536037	3	1	160	1	0	0	0	0	1	0	0	0	10059	1294	45	1	1142	1	MYH3	17	10536037	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	932538	10536037	70659173	1779	30052										
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13503886	13503886	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtcgtagctgcggtcgaaGaagtggggctcggcgcccac	16	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:13503886G>A	ENST00000284110.1	-	1	1358	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	187	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCGGTCGAAGAAGTGGGGCT	0.711																																																	0													8	9	9					17																	13503886		2134	4174	6308	SO:0001819	synonymous_variant	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.561C>T	17.37:g.13503886G>A			A8K7N2	Silent	SNP	pfam_Sulfotransferase_dom	p.F187	ENST00000284110.1	37	c.561	CCDS11165.1	17																																																																																			HS3ST3A1	-	pfam_Sulfotransferase_dom		0.711	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	G	NM_006042		13503886	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13503886	G	A	13503886	2	1	160	1	0	0	0	0	0	0	0	1	7385	933	33	1		1	HS3ST3A1	17	13503886	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2967849	13503886	67691324	1780	30053										
TRIM16	10626	genome.wustl.edu	37	chr17	15554673	15554673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcactgccttcactcttctgGtgtcatcaaggcagaagtca	8	12	7	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:15554673G>C	ENST00000578237.1	-	6	1106	c.251C>G	c.(250-252)aCc>aGc	p.T84S	RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000416464.2_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.T84S|TRIM16_ENST00000336708.7_Missense_Mutation_p.T84S			O95361	TRI16_HUMAN	tripartite motif containing 16	84					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CACTCTTCTGGTGTCATCAAG	0.542																																																	0													184	166	172					17																	15554673		2203	4300	6503	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.251C>G	17.37:g.15554673G>C	ENSP00000463188:p.Thr84Ser		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.T84S	ENST00000578237.1	37	c.251	CCDS11171.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.855|1.855	-0.463969|-0.463969	0.04476|0.04476	.|.	.|.	ENSG00000251537|ENSG00000221926	ENST00000455584|ENST00000336708	.|T	.|0.61627	.|0.09	3.92|3.92	0.198|0.198	0.15168|0.15168	.|Zinc finger, B-box (1);	.|1.309190	.|0.05546	.|N	.|0.566603	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18610	.|0.029;0.005	.|B;B	.|0.15870	.|0.014;0.002	T|T	0.17137|0.17137	-1.0379|-1.0379	5|10	.|0.07644	.|T	.|0.81	.|.	7.36|7.36	0.26742|0.26742	0.0:0.1426:0.4325:0.4249|0.0:0.1426:0.4325:0.4249	.|.	.|84;98	.|O95361;Q59EB2	.|TRI16_HUMAN;.	A|S	99|84	.|ENSP00000338989:T84S	.|ENSP00000338989:T84S	P|T	-|-	1|2	0|0	RP11-385D13.1|TRIM16	15495398|15495398	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.056000|0.056000	0.15407|0.15407	0.004000|0.004000	0.13106|0.13106	0.066000|0.066000	0.16515|0.16515	0.563000|0.563000	0.77884|0.77884	CCA|ACC	TRIM16	-	smart_Znf_B-box		0.542	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	G	NM_006470		15554673	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	missense	SNP	0.144	C	C	15554673	G	C	15554673	3	2	160	1	0	0	0	0	1	0	0	0	16522	1261	44	4	1467	4	TRIM16	17	15554673	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2050787	15554673	65640537	1781	30054										
MED9	55090	genome.wustl.edu	37	chr17	17380526	17380526	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcagtcacctgcccgcgcGagggaggaagagaactactc	12	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:17380526G>C	ENST00000268711.3	+	1	227	c.171G>C	c.(169-171)gcG>gcC	p.A57A	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Silent_p.A57A	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	57						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						cTGCCCGCGCGAGGGAGGAAG	0.622																																																	0													29	30	30					17																	17380526		2203	4300	6503	SO:0001819	synonymous_variant	55090			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.171G>C	17.37:g.17380526G>C				Silent	SNP	pfam_Mediator_Med9	p.A57	ENST00000268711.3	37	c.171	CCDS11184.1	17																																																																																			MED9	-	NULL		0.622	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED9	HGNC	protein_coding	OTTHUMT00000131669.2	G	NM_018019		17380526	1	no_errors	ENST00000268711	ensembl	human	known	70_37	silent	SNP	0.976	C	C	17380526	G	C	17380526	2	2	160	1	0	0	0	0	0	0	0	1	9477	1045	37	1		1	MED9	17	17380526	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1825853	17380526	63814684	1782	30055										
PEMT	10400	genome.wustl.edu	37	chr17	17412829	17412829	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaggggaacacggtcactCtcgcctccttgaggatcccg	12	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:17412829C>T	ENST00000395783.1	-	5	565	c.386G>A	c.(385-387)aGa>aAa	p.R129K	PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000435340.2_Missense_Mutation_p.R144K|PEMT_ENST00000395781.2_Missense_Mutation_p.R166K|RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000255389.5_Missense_Mutation_p.R166K|PEMT_ENST00000395782.1_Missense_Mutation_p.R129K	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	129					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CACGGTCACTCTCGCCTCCTT	0.587																																																	0													190	146	161					17																	17412829		2203	4300	6503	SO:0001583	missense	10400			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.386G>A	17.37:g.17412829C>T	ENSP00000379129:p.Arg129Lys		A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	pfam_PEMT,pirsf_PEMT/MFAP	p.R166K	ENST00000395783.1	37	c.497	CCDS11187.1	17	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935762	0.34189	.	.	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.8	3.82	0.43975	.	0.049738	0.85682	D	0.000000	T	0.25680	0.0625	N	0.21508	0.67	0.36075	D	0.842415	B;B;B	0.26400	0.064;0.148;0.017	B;B;B	0.34489	0.184;0.046;0.045	T	0.16660	-1.0395	10	0.09338	T	0.73	-9.1568	6.443	0.21861	0.0:0.7951:0.0:0.2049	.	166;166;129	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	K	166;129;129;144;166;166	ENSP00000255389:R166K;ENSP00000379129:R129K;ENSP00000379128:R129K;ENSP00000391288:R144K;ENSP00000379127:R166K	ENSP00000255389:R166K	R	-	2	0	PEMT	17353554	1.000000	0.71417	0.988000	0.46212	0.305000	0.27757	4.137000	0.58010	2.188000	0.69820	0.313000	0.20887	AGA	PEMT	-	pfam_PEMT,pirsf_PEMT/MFAP		0.587	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PEMT	HGNC	protein_coding	OTTHUMT00000131657.1	C	NM_007169		17412829	-1	no_errors	ENST00000255389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17412829	C	T	17412829	3	4	160	1	0	0	0	0	1	0	0	0	11750	913	32	1	225	1	PEMT	17	17412829	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	32303	17412829	63782381	1783	30056										
RAI1	10743	genome.wustl.edu	37	chr17	17699089	17699089	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaaggtccagagctggtttGagtcctctctgtcacacatg	10	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:17699089G>C	ENST00000353383.1	+	3	3296	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	RAI1_ENST00000261641.6_Missense_Mutation_p.E943Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	943					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GAGCTGGTTTGAGTCCTCTCT	0.642																																																	0													53	52	52					17																	17699089		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2827G>C	17.37:g.17699089G>C	ENSP00000323074:p.Glu943Gln		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.E943Q	ENST00000353383.1	37	c.2827	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483911	0.63962	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T	0.67698	-0.28;0.32	5.0	3.96	0.45880	.	0.091527	0.45867	D	0.000324	T	0.68659	0.3025	L	0.54323	1.7	0.29795	N	0.832937	D	0.56521	0.976	P	0.54815	0.761	T	0.66881	-0.5811	10	0.52906	T	0.07	.	8.2574	0.31765	0.0895:0.0:0.7523:0.1581	.	943	Q7Z5J4	RAI1_HUMAN	Q	943;943;943;943;895	ENSP00000323074:E943Q;ENSP00000261641:E943Q	ENSP00000261641:E943Q	E	+	1	0	RAI1	17639814	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	3.084000	0.50143	2.343000	0.79666	0.491000	0.48974	GAG	RAI1	-	NULL		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17699089	1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.984	C	C	17699089	G	C	17699089	3	2	160	1	0	0	0	0	1	0	0	0	13037	1291	45	1	2829	1	RAI1	17	17699089	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	286260	17699089	63496121	1784	30057										
SMCR8	140775	genome.wustl.edu	37	chr17	18219287	18219287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggacttcattcttatttccGagttctctgagcaggtggga	12	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18219287G>C	ENST00000406438.3	+	1	664	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	62						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTTATTTCCGAGTTCTCTGA	0.517																																																	0													143	136	138					17																	18219287		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.184G>C	17.37:g.18219287G>C	ENSP00000385025:p.Glu62Gln		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.E62Q	ENST00000406438.3	37	c.184	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870173	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.65916	-0.18	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	L	0.34521	1.04	0.54753	D	0.999984	D	0.89917	1.0	D	0.72625	0.978	T	0.74475	-0.3653	10	0.87932	D	0	-13.9638	20.073	0.97731	0.0:0.0:1.0:0.0	.	62	Q8TEV9	SMCR8_HUMAN	Q	62	ENSP00000385025:E62Q	ENSP00000385025:E62Q	E	+	1	0	SMCR8	18160012	1.000000	0.71417	0.968000	0.41197	0.978000	0.69477	6.226000	0.72277	2.750000	0.94351	0.655000	0.94253	GAG	SMCR8	-	NULL		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	G	NM_144775		18219287	1	no_errors	ENST00000406438	ensembl	human	known	70_37	missense	SNP	0.999	C	C	18219287	G	C	18219287	3	2	160	1	0	0	0	0	1	0	0	0	14822	1059	37	1	186	1	SMCR8	17	18219287	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	520198	18219287	62975923	1785	30058										
SMCR8	140775	genome.wustl.edu	37	chr17	18221437	18221437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcacattatggattttcaGaagtggaagcttattggctt	10	5	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18221437G>C	ENST00000406438.3	+	1	2814	c.2334G>C	c.(2332-2334)caG>caC	p.Q778H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	778						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGGATTTTCAGAAGTGGAAGC	0.522																																																	0													112	112	112					17																	18221437		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2334G>C	17.37:g.18221437G>C	ENSP00000385025:p.Gln778His		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.Q778H	ENST00000406438.3	37	c.2334	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993900	0.74703	.	.	ENSG00000176994	ENST00000406438	T	0.25749	1.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.51422	1.61	0.53688	D	0.999971	D	0.89917	1.0	D	0.73380	0.98	T	0.33007	-0.9885	10	0.56958	D	0.05	-18.4651	19.861	0.96785	0.0:0.0:1.0:0.0	.	778	Q8TEV9	SMCR8_HUMAN	H	778	ENSP00000385025:Q778H	ENSP00000385025:Q778H	Q	+	3	2	SMCR8	18162162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.360000	0.52299	2.767000	0.95098	0.655000	0.94253	CAG	SMCR8	-	NULL		0.522	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	G	NM_144775		18221437	1	no_errors	ENST00000406438	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18221437	G	C	18221437	3	2	160	1	0	0	0	0	1	0	0	0	14822	933	33	1	2336	1	SMCR8	17	18221437	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2150	18221437	62973773	1786	30059										
EVPLL	645027	genome.wustl.edu	37	chr17	18286482	18286482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatggccgaccctgcgggcGtgcggcgggaatacgaggtc	17	12	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18286482G>A	ENST00000399134.4	+	7	1013	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	219										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCTGCGGGCGTGCGGCGGGA	0.741																																																	0													4	8	7					17																	18286482		626	1501	2127	SO:0001583	missense	645027				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.655G>A	17.37:g.18286482G>A	ENSP00000382086:p.Val219Met		B4DPD4	Missense_Mutation	SNP	NULL	p.V219M	ENST00000399134.4	37	c.655	CCDS45626.1	17	.	.	.	.	.	.	.	.	.	.	.	11.49	1.654128	0.29425	.	.	ENSG00000214860	ENST00000399134	T	0.32023	1.47	0.505	0.505	0.16953	.	.	.	.	.	T	0.41465	0.1160	M	0.63843	1.955	0.22926	N	0.998558	D	0.76494	0.999	D	0.63033	0.91	T	0.18967	-1.0320	9	0.48119	T	0.1	.	3.0181	0.06066	0.3785:0.0:0.6215:0.0	.	219	A8MZ36	EVPLL_HUMAN	M	219	ENSP00000382086:V219M	ENSP00000382086:V219M	V	+	1	0	EVPLL	18227207	0.104000	0.21937	0.992000	0.48379	0.245000	0.25701	0.114000	0.15520	0.554000	0.29061	0.089000	0.15464	GTG	EVPLL	-	NULL		0.741	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EVPLL	HGNC	protein_coding	OTTHUMT00000130836.2	G	NM_001145127		18286482	1	no_errors	ENST00000399134	ensembl	human	novel	70_37	missense	SNP	0.984	A	A	18286482	G	A	18286482	3	1	160	1	0	0	0	0	1	0	0	0	5305	1145	40	2	677	2	EVPLL	17	18286482	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	65045	18286482	62908728	1787	30060										
ZNF286B	729288	genome.wustl.edu	37	chr17	18565291	18565291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactctttgatgtctgatgaGagatgaactgcacttaaagc	9	7	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:18565291G>C	ENST00000545289.1	-	5	1778	c.1528C>G	c.(1528-1530)Ctc>Gtc	p.L510V	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TGTCTGATGAGAGATGAACTG	0.358																																																	0													34	35	35					17																	18565291		692	1578	2270	SO:0001583	missense	729288				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1528C>G	17.37:g.18565291G>C	ENSP00000461413:p.Leu510Val			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L510V	ENST00000545289.1	37	c.1528	CCDS58523.1	17																																																																																			ZNF286B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		G	XM_001723047		18565291	-1	no_errors	ENST00000545289	ensembl	human	known	70_37	missense	SNP	0.960	C	C	18565291	G	C	18565291	3	2	160	1	0	0	0	0	1	0	0	0	17854	942	33	1	44	1	ZNF286B	17	18565291	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	278809	18565291	62629919	1788	30061										
EPN2	22905	genome.wustl.edu	37	chr17	19186876	19186876	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgagagggcccaggctctCaaaaccaaagagcgcatggc	13	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19186876C>G	ENST00000314728.5	+	3	928	c.444C>G	c.(442-444)ctC>ctG	p.L148L	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395620.2_Silent_p.L148L|EPN2_ENST00000571254.1_Silent_p.L148L|EPN2_ENST00000347697.2_Silent_p.L148L|EPN2_ENST00000395626.1_Silent_p.L148L|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	148					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCAGGCTCTCAAAACCAAAG	0.592																																																	0													53	54	54					17																	19186876		2203	4300	6503	SO:0001819	synonymous_variant	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.444C>G	17.37:g.19186876C>G			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.L148	ENST00000314728.5	37	c.444	CCDS11203.1	17																																																																																			EPN2	-	NULL		0.592	EPN2-001	KNOWN	basic|CCDS	protein_coding	EPN2	HGNC	protein_coding	OTTHUMT00000132283.3	C	NM_014964		19186876	1	no_errors	ENST00000314728	ensembl	human	known	70_37	silent	SNP	1.000	G	G	19186876	C	G	19186876	2	3	160	1	0	0	0	0	0	0	0	1	5198	813	29	1		1	EPN2	17	19186876	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	621585	19186876	62008334	1789	30062										
RNF112	7732	genome.wustl.edu	37	chr17	19318403	19318403	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcctacgtctcagatgtgctGagtgcggccccccagcacgc	12	16	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19318403G>C	ENST00000461366.1	+	11	1394	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	393	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGATGTGCTGAGTGCGGCCC	0.652																																																	0													16	19	18					17																	19318403		1971	4152	6123	SO:0001819	synonymous_variant	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1179G>C	17.37:g.19318403G>C			O60633|Q7Z5V9	Silent	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.L276	ENST00000461366.1	37	c.828	CCDS58529.1	17																																																																																			RNF112	-	NULL		0.652	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	G	NM_007148		19318403	1	no_errors	ENST00000453070	ensembl	human	known	70_37	silent	SNP	0.012	C	C	19318403	G	C	19318403	2	2	160	1	0	0	0	0	0	0	0	1	13456	1277	45	1		1	RNF112	17	19318403	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	131527	19318403	61876807	1790	30063										
SLC47A2	146802	genome.wustl.edu	37	chr17	19605921	19605921	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaaagtggtacttacacaGatggcctcaaacacgtgaaa	8	9	2	2	rs143935395		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:19605921G>C	ENST00000325411.5	-	13	1319	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	SLC47A2_ENST00000350657.5_Missense_Mutation_p.I401M|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	423					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TACTTACACAGATGGCCTCAA	0.488																																																	0								G	MET/ILE,MET/ILE	3,4403	6.2+/-15.9	0,3,2200	117	89	99		1161,1269	2.1	0.7	17	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	SLC47A2	NM_001099646.1,NM_152908.3	10,10	0,3,6500	CC,CG,GG		0.0,0.0681,0.0231	benign,benign	387/567,423/603	19605921	3,13003	2203	4300	6503	SO:0001583	missense	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1269C>G	17.37:g.19605921G>C	ENSP00000326671:p.Ile423Met		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.I423M	ENST00000325411.5	37	c.1269	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	G	4.010	-0.000736	0.07819	6.81E-4	0.0	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.32515	1.45;1.45	4.6	2.12	0.27331	.	0.283089	0.37178	N	0.002215	T	0.20088	0.0483	L	0.27053	0.805	0.27981	N	0.936015	B;B;B	0.21688	0.059;0.007;0.014	B;B;B	0.29353	0.062;0.038;0.101	T	0.15578	-1.0432	10	0.44086	T	0.13	-8.2679	6.2542	0.20864	0.3939:0.0:0.6061:0.0	.	387;401;423	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	M	401;423	ENSP00000338084:I401M;ENSP00000326671:I423M	ENSP00000326671:I423M	I	-	3	3	SLC47A2	19546513	0.144000	0.22641	0.665000	0.29768	0.038000	0.13279	0.354000	0.20146	0.176000	0.19873	0.462000	0.41574	ATC	SLC47A2	-	pfam_MATE,tigrfam_MATE		0.488	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	G	NM_152908		19605921	-1	no_errors	ENST00000325411	ensembl	human	known	70_37	missense	SNP	0.919	C	C	19605921	G	C	19605921	3	2	160	1	0	0	0	0	1	0	0	0	14678	932	33	1	559	1	SLC47A2	17	19605921	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	287518	19605921	61589289	1791	30064										
CYTSB	92521	genome.wustl.edu	37	chr17	20107794	20107794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccaacactcccactcctacGaaacacctgaggaccccttc	4	19	0	1	rs376056401		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:20107794G>A	ENST00000261503.5	+	4	483	c.432G>A	c.(430-432)acG>acA	p.T144T	SPECC1_ENST00000395525.3_Silent_p.T63T|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395529.3_Silent_p.T144T|SPECC1_ENST00000395522.2_Silent_p.T63T|SPECC1_ENST00000395530.2_Silent_p.T63T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Silent_p.T144T|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	144					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCACTCCTACGAAACACCTGA	0.522																																																	0													123	127	125					17																	20107794		2203	4300	6503	SO:0001819	synonymous_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.432G>A	17.37:g.20107794G>A			B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T144	ENST00000261503.5	37	c.432	CCDS32590.1	17																																																																																			SPECC1	-	NULL		0.522	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	G	NM_152904		20107794	1	no_errors	ENST00000261503	ensembl	human	known	70_37	silent	SNP	0.998	A	A	20107794	G	A	20107794	2	1	160	1	0	0	0	0	0	0	0	1	4215	1045	37	1		1	CYTSB	17	20107794	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	501873	20107794	61087416	1792	30065										
NOS2	4843	genome.wustl.edu	37	chr17	26108139	26108139	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccagcatagcggatgagctGagcattccacacccggaagt	12	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:26108139G>A	ENST00000313735.6	-	8	1020	c.787C>T	c.(787-789)Cag>Tag	p.Q263*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	263					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CGGATGAGCTGAGCATTCCAC	0.597																																																	0													92	79	84					17																	26108139		2203	4300	6503	SO:0001587	stop_gained	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.787C>T	17.37:g.26108139G>A	ENSP00000327251:p.Gln263*		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.Q263*	ENST00000313735.6	37	c.787	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.568263	0.96540	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5127	0.90923	0.0:0.0:1.0:0.0	.	.	.	.	X	263	.	ENSP00000305638:Q263X	Q	-	1	0	NOS2	23132266	1.000000	0.71417	0.955000	0.39395	0.010000	0.07245	9.869000	0.99810	2.608000	0.88229	0.655000	0.94253	CAG	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.597	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26108139	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	26108139	G	A	26108139	4	1	160	1	0	0	0	0	0	1	0	0	10567	1299	45	1	2754	1	NOS2	17	26108139	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6000345	26108139	55087071	1793	30066										
SPAG5	10615	genome.wustl.edu	37	chr17	26911397	26911397	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtaagctggcagagtaactCatccttcatagccaggtcct	10	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:26911397C>T	ENST00000321765.5	-	12	2595	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	755	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGAGTAACTCATCCTTCATA	0.527																																																	0													218	200	206					17																	26911397		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2263G>A	17.37:g.26911397C>T	ENSP00000323300:p.Glu755Lys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.E755K	ENST00000321765.5	37	c.2263	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558560	0.65538	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	5.05	0.67936	.	0.188492	0.37012	N	0.002281	T	0.44829	0.1312	L	0.36672	1.1	0.30877	N	0.731802	D	0.55385	0.971	P	0.52823	0.71	T	0.49513	-0.8932	9	0.37606	T	0.19	-4.5268	13.4753	0.61306	0.0:0.8438:0.1562:0.0	.	755	Q96R06	SPAG5_HUMAN	K	755;252	.	ENSP00000323300:E755K	E	-	1	0	SPAG5	23935524	0.591000	0.26824	0.991000	0.47740	0.698000	0.40448	2.484000	0.45242	1.551000	0.49450	0.650000	0.86243	GAG	SPAG5	-	NULL		0.527	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	C	NM_006461		26911397	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.998	T	T	26911397	C	T	26911397	3	4	160	1	0	0	0	0	1	0	0	0	15011	835	29	1	1370	1	SPAG5	17	26911397	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	803258	26911397	54283813	1794	30067										
NEK8	284086	genome.wustl.edu	37	chr17	27064323	27064323	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcaacctggtgccttcacaGaacttgccagcactggtgct	9	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27064323G>C	ENST00000268766.6	+	5	652		c.e5-1		AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8						organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCCTTCACAGAACTTGCCAG	0.567																																					NSCLC(6;19 293 14866 25253 49845)												0													32	29	30					17																	27064323		2203	4300	6503	SO:0001630	splice_region_variant	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.619-1G>C	17.37:g.27064323G>C			A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Splice_Site	SNP	-	e5-1	ENST00000268766.6	37	c.619-1	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093285	0.76756	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9309	0.92564	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK8	24088450	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	9.628000	0.98415	2.710000	0.92621	0.558000	0.71614	.	NEK8	-	-		0.567	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	G		Intron	27064323	1	no_errors	ENST00000268766	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	27064323	G	C	27064323	5	2	160	1	0	0	0	0	0	0	1	0	10354	956	33	1	636	1	NEK8	17	27064323	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	152926	27064323	54130887	1795	30068										
TRAF4	9618	genome.wustl.edu	37	chr17	27075394	27075394	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgagtgccccaagcgcactCagccctgcacctactgcact	8	18	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27075394C>T	ENST00000262395.5	+	5	706	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	TRAF4_ENST00000444415.3_Nonsense_Mutation_p.Q193*|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	193					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CAAGCGCACTCAGCCCTGCAC	0.592																																																	0													71	56	61					17																	27075394		2203	4300	6503	SO:0001587	stop_gained	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.577C>T	17.37:g.27075394C>T	ENSP00000262395:p.Gln193*		O75615|Q14848|Q2KJU4|Q2PJN8	Nonsense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.Q193*	ENST00000262395.5	37	c.577	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594132	0.86953	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.3177	0.90226	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000262395:Q193X	Q	+	1	0	TRAF4	24099521	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.167000	0.77562	2.668000	0.90789	0.561000	0.74099	CAG	TRAF4	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.592	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	C	NM_145751		27075394	1	no_errors	ENST00000262395	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27075394	C	T	27075394	4	4	160	1	0	0	0	0	0	1	0	0	16474	827	29	1	595	1	TRAF4	17	27075394	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11071	27075394	54119816	1796	30069										
PHF12	57649	genome.wustl.edu	37	chr17	27240257	27240257	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcttagcagataaatgtttCaatatgctgcactggagcgc	10	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27240257C>T	ENST00000332830.4	-	9	2142	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.L444L|PHF12_ENST00000577226.1_Silent_p.L444L	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAAATGTTTCAATATGCTGC	0.517																																																	0													110	107	108					17																	27240257		2203	4300	6503	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1332G>A	17.37:g.27240257C>T				Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.L444	ENST00000332830.4	37	c.1332	CCDS32598.1	17																																																																																			PHF12	-	NULL		0.517	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27240257	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27240257	C	T	27240257	2	4	160	1	0	0	0	0	0	0	0	1	11847	825	29	1		1	PHF12	17	27240257	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	164863	27240257	53954953	1797	30070										
TAOK1	57551	genome.wustl.edu	37	chr17	27778620	27778620	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaccctgaaattgcagagctCttcttcaaagaagatccaga	8	10	3	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27778620C>G	ENST00000261716.3	+	2	573	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TAOK1_ENST00000536202.1_Silent_p.L18L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	18					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.L18L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTGCAGAGCTCTTCTTCAAAG	0.443																																																	2	Substitution - coding silent(2)	lung(2)											93	92	92					17																	27778620		2203	4300	6503	SO:0001819	synonymous_variant	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.54C>G	17.37:g.27778620C>G			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L18	ENST00000261716.3	37	c.54	CCDS32601.1	17																																																																																			TAOK1	-	NULL		0.443	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	C	NM_020791		27778620	1	no_errors	ENST00000261716	ensembl	human	known	70_37	silent	SNP	1.000	G	G	27778620	C	G	27778620	2	3	160	1	0	0	0	0	0	0	0	1	15577	900	32	1		1	TAOK1	17	27778620	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	538363	27778620	53416590	1798	30071										
TAOK1	57551	genome.wustl.edu	37	chr17	27837950	27837950	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccaacagaagaaagaactGaatagttttctcgagtccca	8	10	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27837950G>C	ENST00000261716.3	+	15	2163	c.1644G>C	c.(1642-1644)ctG>ctC	p.L548L	TAOK1_ENST00000536202.1_Silent_p.L548L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	548					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGAAAGAACTGAATAGTTTTC	0.323																																																	0													73	79	77					17																	27837950		2203	4299	6502	SO:0001819	synonymous_variant	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1644G>C	17.37:g.27837950G>C			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L548	ENST00000261716.3	37	c.1644	CCDS32601.1	17																																																																																			TAOK1	-	superfamily_Kinase-like_dom		0.323	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	G	NM_020791		27837950	1	no_errors	ENST00000261716	ensembl	human	known	70_37	silent	SNP	0.986	C	C	27837950	G	C	27837950	2	2	160	1	0	0	0	0	0	0	0	1	15577	1277	45	1		1	TAOK1	17	27837950	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	59330	27837950	53357260	1799	30072										
TAOK1	57551	genome.wustl.edu	37	chr17	27849331	27849331	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacagactcagaaggacttaGagcatgccatgctactccga	10	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27849331G>C	ENST00000261716.3	+	17	2461	c.1942G>C	c.(1942-1944)Gag>Cag	p.E648Q	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	648					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGGACTTAGAGCATGCCAT	0.403																																																	0													87	79	82					17																	27849331		2203	4300	6503	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1942G>C	17.37:g.27849331G>C	ENSP00000261716:p.Glu648Gln		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E648Q	ENST00000261716.3	37	c.1942	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806682	0.70682	.	.	ENSG00000160551	ENST00000261716	T	0.52057	0.68	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	M	0.82056	2.57	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.73157	-0.4071	10	0.56958	D	0.05	.	20.398	0.98986	0.0:0.0:1.0:0.0	.	648	Q7L7X3	TAOK1_HUMAN	Q	648	ENSP00000261716:E648Q	ENSP00000261716:E648Q	E	+	1	0	TAOK1	24873457	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	9.863000	0.99569	2.827000	0.97445	0.643000	0.83706	GAG	TAOK1	-	superfamily_Kinase-like_dom		0.403	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	G	NM_020791		27849331	1	no_errors	ENST00000261716	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27849331	G	C	27849331	3	2	160	1	0	0	0	0	1	0	0	0	15577	943	33	1	2004	1	TAOK1	17	27849331	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11381	27849331	53345879	1800	30073										
SSH2	85464	genome.wustl.edu	37	chr17	27977792	27977792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaagaagttatctatctctCgagtgacattcaagatatac	8	7	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:27977792C>T	ENST00000269033.3	-	12	1176	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R369Q	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	342	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTATCTCTCGAGTGACATT	0.428																																																	0													152	140	144					17																	27977792		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1025G>A	17.37:g.27977792C>T	ENSP00000269033:p.Arg342Gln		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R342Q	ENST00000269033.3	37	c.1025	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.175814	0.94807	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.32023	1.47;1.47	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.53780	1.695	0.80722	D	1	P;P;P	0.49447	0.808;0.916;0.924	B;B;P	0.48334	0.296;0.179;0.574	T	0.30357	-0.9981	10	0.87932	D	0	-7.3133	20.1253	0.97977	0.0:1.0:0.0:0.0	.	369;342;342	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	Q	342;369;342	ENSP00000269033:R342Q;ENSP00000444743:R369Q	ENSP00000269033:R342Q	R	-	2	0	SSH2	25001918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CGA	SSH2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.428	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	C	NM_033389		27977792	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27977792	C	T	27977792	3	4	160	1	0	0	0	0	1	0	0	0	15215	884	31	1	3262	1	SSH2	17	27977792	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	128461	27977792	53217418	1801	30074										
CCDC55	84081	genome.wustl.edu	37	chr17	28512600	28512600	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtttgcaaagcggaacaatGaagaaactgtaatgtcagct	10	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:28512600G>A	ENST00000247026.5	+	7	1648	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	529					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GCGGAACAATGAAGAAACTGT	0.473																																																	0													100	98	98					17																	28512600		2203	4300	6503	SO:0001583	missense	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1585G>A	17.37:g.28512600G>A	ENSP00000247026:p.Glu529Lys		Q6FI71	Missense_Mutation	SNP	pfam_DUF2040	p.E529K	ENST00000247026.5	37	c.1585	CCDS11255.1	17	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670786	0.47781	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.49720	0.77	6.16	2.73	0.32206	.	0.153767	0.56097	D	0.000022	T	0.39627	0.1085	L	0.45581	1.43	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.29882	-0.9997	10	0.41790	T	0.15	-20.682	11.9252	0.52814	0.2189:0.0:0.7811:0.0	.	529	Q9H0G5	NSRP1_HUMAN	K	529;460	ENSP00000247026:E529K	ENSP00000247026:E529K	E	+	1	0	NSRP1	25536726	1.000000	0.71417	0.522000	0.27862	0.652000	0.38707	3.056000	0.49923	0.951000	0.37770	-0.142000	0.14014	GAA	NSRP1	-	NULL		0.473	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	G	NM_032141		28512600	1	no_errors	ENST00000247026	ensembl	human	known	70_37	missense	SNP	0.914	A	A	28512600	G	A	28512600	3	1	160	1	0	0	0	0	1	0	0	0	2830	1291	45	1	1611	1	CCDC55	17	28512600	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	534808	28512600	52682610	1802	30075										
OMG	4974	genome.wustl.edu	37	chr17	29622065	29622065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacaacattgagcaataagaGaaatgaagcatttactttcc	6	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:29622065G>A	ENST00000247271.4	-	2	1546	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	429					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AGCAATAAGAGAAATGAAGCA	0.413																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											155	141	146					17																	29622065		2203	4300	6503	SO:0001583	missense	4974				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.1285C>T	17.37:g.29622065G>A	ENSP00000247271:p.Leu429Phe		E1P659	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L429F	ENST00000247271.4	37	c.1285	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811718	0.16537	.	.	ENSG00000126861	ENST00000247271	T	0.64803	-0.12	4.98	0.454	0.16644	.	0.416966	0.20375	N	0.093565	T	0.35537	0.0935	N	0.14661	0.345	0.24688	N	0.993321	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.87932	D	0	-0.0457	0.8791	0.01230	0.2323:0.3269:0.2265:0.2143	.	429	P23515	OMGP_HUMAN	F	429	ENSP00000247271:L429F	ENSP00000247271:L429F	L	-	1	0	OMG	26646191	0.916000	0.31088	0.998000	0.56505	0.977000	0.68977	0.573000	0.23699	0.605000	0.29947	0.655000	0.94253	CTC	OMG	-	NULL		0.413	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	HGNC	protein_coding	OTTHUMT00000256350.2	G	NM_002544		29622065	-1	no_errors	ENST00000247271	ensembl	human	known	70_37	missense	SNP	0.211	A	A	29622065	G	A	29622065	3	1	160	1	0	0	0	0	1	0	0	0	10890	942	33	1	41	1	OMG	17	29622065	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1109465	29622065	51573145	1803	30076										
NF1	4763	genome.wustl.edu	37	chr17	29652871	29652871	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaatcaatggtgatttgctGatataccatgtcttactgac	7	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:29652871G>T	ENST00000358273.4	+	37	5252	c.4869G>T	c.(4867-4869)ctG>ctT	p.L1623L	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.L1602L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1623	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGATTTGCTGATATACCATG	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											107	105	105					17																	29652871		2203	4300	6503	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4869G>T	17.37:g.29652871G>T			O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L1623	ENST00000358273.4	37	c.4869	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29652871	1	no_errors	ENST00000358273	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29652871	G	T	29652871	2	4	160	1	0	0	0	0	0	0	0	1	10380	1277	45	3		3	NF1	17	29652871	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	30806	29652871	51542339	1804	30077										
MYO1D	4642	genome.wustl.edu	37	chr17	30981585	30981585	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acggctgcaacctttgccctGacctggggcaggtctgaggc	14	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:30981585G>C	ENST00000318217.5	-	18	2704	c.2400C>G	c.(2398-2400)gtC>gtG	p.V800V	MYO1D_ENST00000394649.4_Silent_p.V712V|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.V800V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	800					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTTTGCCCTGACCTGGGGCA	0.512																																																	0													61	60	61					17																	30981585		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2400C>G	17.37:g.30981585G>C			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V800	ENST00000318217.5	37	c.2400	CCDS32615.1	17																																																																																			MYO1D	-	NULL		0.512	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	G			30981585	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	silent	SNP	1.000	C	C	30981585	G	C	30981585	2	2	160	1	0	0	0	0	0	0	0	1	10094	1277	45	1		1	MYO1D	17	30981585	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1328714	30981585	50213625	1805	30078										
ZNF830	91603	genome.wustl.edu	37	chr17	33289069	33289069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tactccccgattatgaagatGaggaggaggaggaagaggag	16	5	0	4	rs527994591	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33289069G>C	ENST00000361952.3	+	1	521	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	162					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TTATGAAGATgaggaggagga	0.522																																																	0													54	58	57					17																	33289069		2203	4300	6503	SO:0001583	missense	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.484G>C	17.37:g.33289069G>C	ENSP00000354518:p.Glu162Gln		Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	smart_Znf_U1	p.E162Q	ENST00000361952.3	37	c.484	CCDS32618.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981411	0.74474	.	.	ENSG00000198783	ENST00000361952	T	0.15718	2.4	5.65	5.65	0.86999	.	0.252795	0.38272	N	0.001760	T	0.20129	0.0484	L	0.40543	1.245	0.80722	D	1	D	0.57899	0.981	P	0.46629	0.522	T	0.00152	-1.1984	10	0.45353	T	0.12	-7.8746	15.093	0.72211	0.0:0.0:1.0:0.0	.	162	Q96NB3	ZN830_HUMAN	Q	162	ENSP00000354518:E162Q	ENSP00000354518:E162Q	E	+	1	0	ZNF830	30313182	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	6.452000	0.73485	2.941000	0.99782	0.655000	0.94253	GAG	ZNF830	-	NULL		0.522	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF830	HGNC	protein_coding	OTTHUMT00000448018.1	G	NM_052857		33289069	1	no_errors	ENST00000361952	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33289069	G	C	33289069	3	2	160	1	0	0	0	0	1	0	0	0	18214	1291	45	1	486	1	ZNF830	17	33289069	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2307484	33289069	47906141	1806	30079										
LIG3	3980	genome.wustl.edu	37	chr17	33328397	33328397	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatgataaggactggaaatCtgccactaaccttccccaac	7	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33328397C>G	ENST00000378526.4	+	17	2586	c.2453C>G	c.(2452-2454)tCt>tGt	p.S818C	LIG3_ENST00000262327.5_Missense_Mutation_p.S818C	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	818					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GACTGGAAATCTGCCACTAAC	0.527								Other BER factors																																									0													91	87	88					17																	33328397		2203	4300	6503	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2453C>G	17.37:g.33328397C>G	ENSP00000367787:p.Ser818Cys		Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S818C	ENST00000378526.4	37	c.2453	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454887	0.63290	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.64991	-0.13;-0.13	5.97	5.97	0.96955	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.103112	0.64402	D	0.000005	T	0.66446	0.2790	N	0.24115	0.695	0.45930	D	0.998767	D;D	0.62365	0.991;0.991	P;P	0.57776	0.827;0.76	T	0.69072	-0.5242	10	0.72032	D	0.01	-13.7258	19.4162	0.94700	0.0:1.0:0.0:0.0	.	818;818	P49916;E5KLB6	DNLI3_HUMAN;.	C	818	ENSP00000367787:S818C;ENSP00000262327:S818C	ENSP00000262327:S818C	S	+	2	0	LIG3	30352510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.605000	0.54088	2.837000	0.97791	0.655000	0.94253	TCT	LIG3	-	superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	C	NM_013975		33328397	1	no_errors	ENST00000378526	ensembl	human	known	70_37	missense	SNP	0.960	G	G	33328397	C	G	33328397	3	3	160	1	0	0	0	0	1	0	0	0	8802	913	32	1	2515	1	LIG3	17	33328397	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	39328	33328397	47866813	1807	30080										
SLFN12L	100506736	genome.wustl.edu	37	chr17	33806930	33806930	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggcagcatgttactaaaaGaattttccaaatctagccct	6	9	1	1	rs555535892		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33806930G>C	ENST00000260908.7	-	2	416	c.299C>G	c.(298-300)tCt>tGt	p.S100C	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.S131C|SLFN12L_ENST00000361112.4_Missense_Mutation_p.S129C	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	100						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTTACTAAAAGAATTTTCCAA	0.383													G|||	1	0.000199681	8e-04	0	5008	,	,		20048	0		0	False		,,,				2504	0																0													161	147	151					17																	33806930		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.299C>G	17.37:g.33806930G>C	ENSP00000437635:p.Ser100Cys		F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.S131C	ENST00000260908.7	37	c.392	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857780	0.32791	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.04970	3.54;3.64;3.52	2.38	1.31	0.21738	.	.	.	.	.	T	0.19565	0.0470	M	0.73430	2.235	0.09310	N	1	D	0.71674	0.998	D	0.71870	0.975	T	0.04737	-1.0930	9	0.87932	D	0	.	6.6879	0.23156	0.0:0.2995:0.7005:0.0	.	129	Q6IEE8-2	.	C	100;129;131	ENSP00000437635:S100C;ENSP00000354412:S129C;ENSP00000389348:S131C	ENSP00000437635:S100C	S	-	2	0	SLFN12L	30831043	0.014000	0.17966	0.005000	0.12908	0.239000	0.25481	1.166000	0.31834	0.275000	0.22094	0.205000	0.17691	TCT	SLFN12L	-	NULL		0.383	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	G	XM_496206		33806930	-1	no_errors	ENST00000449046	ensembl	human	known	70_37	missense	SNP	0.006	C	C	33806930	G	C	33806930	3	2	160	1	0	0	0	0	1	0	0	0	14765	942	33	1	1479	1	SLFN12L	17	33806930	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	478533	33806930	47388280	1808	30081										
AP2B1	163	genome.wustl.edu	37	chr17	33951604	33951604	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaagatgatcgggaggctcaGaggtcagtctgttttcctgg	14	7	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:33951604G>C	ENST00000262325.7	+	6	1267	c.714G>C	c.(712-714)caG>caC	p.Q238H	AP2B1_ENST00000312678.8_Missense_Mutation_p.Q238H|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.Q238H|AP2B1_ENST00000592545.1_Missense_Mutation_p.Q200H|AP2B1_ENST00000538556.1_Missense_Mutation_p.Q181H|AP2B1_ENST00000589344.1_Missense_Mutation_p.Q238H	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	238					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGGAGGCTCAGAGGTCAGTCT	0.468																																																	0													65	62	63					17																	33951604		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.714G>C	17.37:g.33951604G>C	ENSP00000262325:p.Gln238His		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.Q238H	ENST00000262325.7	37	c.714	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601606	0.46423	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.82	4.85	0.62838	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.050772	0.85682	D	0.000000	T	0.24547	0.0595	L	0.42632	1.34	0.80722	D	1	B;B;B	0.22346	0.068;0.05;0.008	B;B;B	0.25759	0.063;0.025;0.01	T	0.04870	-1.0921	10	0.87932	D	0	-11.3979	11.9272	0.52827	0.1444:0.0:0.8556:0.0	.	200;238;238	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	H	238;238;181;238	ENSP00000262325:Q238H;ENSP00000314414:Q238H;ENSP00000440563:Q181H;ENSP00000437413:Q238H	ENSP00000262325:Q238H	Q	+	3	2	AP2B1	30975717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.789000	0.38724	1.467000	0.48044	0.655000	0.94253	CAG	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.468	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	G			33951604	1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33951604	G	C	33951604	3	2	160	1	0	0	0	0	1	0	0	0	741	933	33	1	732	1	AP2B1	17	33951604	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	144674	33951604	47243606	1809	30082										
SOCS7	30837	genome.wustl.edu	37	chr17	36521234	36521234	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatctgtccttgtggctccGatggggtcttccttgcagtc	11	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:36521234G>A	ENST00000577233.1	+	4	1002	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	334	Mediates interaction with SORBS3.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TTGTGGCTCCGATGGGGTCTT	0.512																																																	0													122	109	114					17																	36521234		2203	4300	6503	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1002G>A	17.37:g.36521234G>A			A2VCU2|Q0IJ63	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.P334	ENST00000577233.1	37	c.1002	CCDS32637.1	17																																																																																			SOCS7	-	NULL		0.512	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS7	HGNC	protein_coding	OTTHUMT00000440486.4	G	XM_371052		36521234	1	no_errors	ENST00000577233	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36521234	G	A	36521234	2	1	160	1	0	0	0	0	0	0	0	1	14949	1045	37	1		1	SOCS7	17	36521234	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2569630	36521234	44673976	1810	30083										
SRCIN1	80725	genome.wustl.edu	37	chr17	36714613	36714613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctccgtgcgcttcagcagcGcgcgcaccgactcctggttc	11	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:36714613G>A	ENST00000264659.7	-	11	2275	c.2051C>T	c.(2050-2052)gCg>gTg	p.A684V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A718V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	556					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTTCAGCAGCGCGCGCACCGA	0.736											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	15	14					17																	36714613		2029	4146	6175	SO:0001583	missense	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2051C>T	17.37:g.36714613G>A	ENSP00000264659:p.Ala684Val	865	Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.A684V	ENST00000264659.7	37	c.2051	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688549	0.68271	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52526	0.66	4.91	4.91	0.64330	.	0.326661	0.31268	N	0.007944	T	0.36193	0.0958	L	0.37561	1.115	0.36276	D	0.855474	P;P;P	0.40931	0.733;0.733;0.519	B;B;B	0.31495	0.131;0.131;0.123	T	0.49934	-0.8886	10	0.40728	T	0.16	-22.4601	16.8846	0.86072	0.0:0.0:1.0:0.0	.	556;556;684	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	V	684;465;538	ENSP00000264659:A684V	ENSP00000264659:A684V	A	-	2	0	SRCIN1	33968139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.149000	0.64863	2.278000	0.76064	0.462000	0.41574	GCG	SRCIN1	-	NULL		0.736	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	G	NM_025248		36714613	-1	no_errors	ENST00000264659	ensembl	human	known	70_37	missense	SNP	0.998	A	A	36714613	G	A	36714613	3	1	160	1	0	0	0	0	1	0	0	0	15166	1087	38	2	1536	2	SRCIN1	17	36714613	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	193379	36714613	44480597	1811	30084										
FBXO47	494188	genome.wustl.edu	37	chr17	37099097	37099097	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcacagctttactagccatGaaactgaaacagatgttgtt	7	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:37099097G>A	ENST00000378079.2	-	9	1216	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	339										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TACTAGCCATGAAACTGAAAC	0.393																																																	0													92	87	88					17																	37099097		2203	4300	6503	SO:0001819	synonymous_variant	494188				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1017C>T	17.37:g.37099097G>A			B2RTZ4	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F339	ENST00000378079.2	37	c.1017	CCDS32639.1	17																																																																																			FBXO47	-	NULL		0.393	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1	G	NM_001008777		37099097	-1	no_errors	ENST00000378079	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37099097	G	A	37099097	2	1	160	1	0	0	0	0	0	0	0	1	5774	1281	45	1		1	FBXO47	17	37099097	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	384484	37099097	44096113	1812	30085										
ZPBP2	124626	genome.wustl.edu	37	chr17	38028610	38028610	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atacaatgatgtattctttaGagtgctgaagaaaatcttgg	9	4	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38028610G>C	ENST00000348931.4	+	5	685	c.494G>C	c.(493-495)aGa>aCa	p.R165T	ZPBP2_ENST00000377940.3_Missense_Mutation_p.R143T|ZPBP2_ENST00000584588.1_Intron	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	165					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTATTCTTTAGAGTGCTGAAG	0.358																																																	0													125	124	125					17																	38028610		2203	4299	6502	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.494G>C	17.37:g.38028610G>C	ENSP00000335384:p.Arg165Thr		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.R165T	ENST00000348931.4	37	c.494	CCDS11352.1	17	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266918	0.23136	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.55930	0.49;0.49	5.48	2.04	0.26737	.	0.372362	0.25657	N	0.029165	T	0.41971	0.1182	L	0.60455	1.87	0.26310	N	0.977834	B;B	0.17667	0.007;0.023	B;B	0.15052	0.005;0.012	T	0.42882	-0.9425	10	0.72032	D	0.01	-11.2037	2.8437	0.05537	0.325:0.2421:0.4329:0.0	.	143;165	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	T	165;143	ENSP00000335384:R165T;ENSP00000367174:R143T	ENSP00000335384:R165T	R	+	2	0	ZPBP2	35282136	0.586000	0.26782	0.998000	0.56505	0.832000	0.47134	1.305000	0.33493	0.664000	0.31047	0.460000	0.39030	AGA	ZPBP2	-	pfam_Sp38-bd		0.358	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP2	HGNC	protein_coding	OTTHUMT00000256609.2	G	NM_198844		38028610	1	no_errors	ENST00000348931	ensembl	human	known	70_37	missense	SNP	0.968	C	C	38028610	G	C	38028610	3	2	160	1	0	0	0	0	1	0	0	0	18250	942	33	1	512	1	ZPBP2	17	38028610	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	929513	38028610	43166600	1813	30086										
GSDMB	55876	genome.wustl.edu	37	chr17	38061111	38061111	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagccagctccagcaggataGagacaacaacatacagcgca	9	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38061111G>C	ENST00000394179.1	-	10	1320	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C	GSDMB_ENST00000360317.3_Missense_Mutation_p.S402C|GSDMB_ENST00000309481.7_Missense_Mutation_p.S389C|GSDMB_ENST00000520542.1_Missense_Mutation_p.S393C|GSDMB_ENST00000394175.2_Missense_Mutation_p.S380C|GSDMB_ENST00000418519.1_Missense_Mutation_p.S402C			Q8TAX9	GSDMB_HUMAN	gasdermin B	397						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CAGCAGGATAGAGACAACAAC	0.532																																																	0													105	97	100					17																	38061111		2203	4300	6503	SO:0001583	missense	55876			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.1190C>G	17.37:g.38061111G>C	ENSP00000377733:p.Ser397Cys		B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	pfam_Gasdermin	p.S402C	ENST00000394179.1	37	c.1205		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.087899|2.087899	0.36855|0.36855	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T	.|0.10763	.|2.84;2.9;2.93;2.9;2.94	3.76|3.76	1.7|1.7	0.24286|0.24286	.|.	.|0.332601	.|0.21545	.|N	.|0.072822	T|T	0.15652|0.15652	0.0377|0.0377	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.996;0.957;0.94;0.998;0.998	T|T	0.04796|0.04796	-1.0926|-1.0926	5|10	.|0.87932	.|D	.|0	.|.	6.2485|6.2485	0.20832|0.20832	0.0:0.2054:0.5826:0.212|0.0:0.2054:0.5826:0.212	.|.	.|393;402;397;389;380	.|B4DKK7;Q8TAX9-4;Q8TAX9;Q8TAX9-3;Q8TAX9-2	.|.;.;GSDMB_HUMAN;.;.	V|C	334|397;380;389;393;402;397	.|ENSP00000377729:S380C;ENSP00000312584:S389C;ENSP00000430157:S393C;ENSP00000415049:S402C;ENSP00000377733:S397C	.|ENSP00000312584:S389C	L|S	-|-	1|2	2|0	GSDMB|GSDMB	35314637|35314637	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.899000|0.899000	0.28417|0.28417	0.348000|0.348000	0.23949|0.23949	0.511000|0.511000	0.50034|0.50034	CTA|TCT	GSDMB	-	NULL		0.532	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	GSDMB	HGNC	protein_coding		G	NM_018530		38061111	-1	no_errors	ENST00000360317	ensembl	human	known	70_37	missense	SNP	0.001	C	C	38061111	G	C	38061111	3	2	160	1	0	0	0	0	1	0	0	0	6837	942	33	1	49	1	GSDMB	17	38061111	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32501	38061111	43134099	1814	30087										
GSDMB	55876	genome.wustl.edu	37	chr17	38061148	38061148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcacagagaattcgtgcctCagggtcatagtccatgtcag	11	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38061148C>T	ENST00000394179.1	-	10	1283	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	GSDMB_ENST00000360317.3_Missense_Mutation_p.E390K|GSDMB_ENST00000309481.7_Missense_Mutation_p.E377K|GSDMB_ENST00000520542.1_Missense_Mutation_p.E381K|GSDMB_ENST00000394175.2_Missense_Mutation_p.E368K|GSDMB_ENST00000418519.1_Missense_Mutation_p.E390K			Q8TAX9	GSDMB_HUMAN	gasdermin B	385						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ATTCGTGCCTCAGGGTCATAG	0.522																																																	0													124	110	115					17																	38061148		2203	4300	6503	SO:0001583	missense	55876			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.1153G>A	17.37:g.38061148C>T	ENSP00000377733:p.Glu385Lys		B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	pfam_Gasdermin	p.E390K	ENST00000394179.1	37	c.1168		17	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131589	0.56828	.	.	ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	T;T;T;T;T	0.10477	2.87;2.94;2.97;2.94;2.99	3.65	1.6	0.23607	.	0.565418	0.14111	N	0.340719	T	0.11922	0.0290	N	0.24115	0.695	0.09310	N	1	P;D;D;P;P	0.61080	0.799;0.982;0.989;0.773;0.873	B;P;P;B;B	0.54965	0.103;0.765;0.696;0.208;0.328	T	0.15235	-1.0444	10	0.62326	D	0.03	.	5.696	0.17855	0.0:0.748:0.0:0.252	.	381;390;385;377;368	B4DKK7;Q8TAX9-4;Q8TAX9;Q8TAX9-3;Q8TAX9-2	.;.;GSDMB_HUMAN;.;.	K	385;368;377;381;390;385	ENSP00000377729:E368K;ENSP00000312584:E377K;ENSP00000430157:E381K;ENSP00000415049:E390K;ENSP00000377733:E385K	ENSP00000312584:E377K	E	-	1	0	GSDMB	35314674	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.045000	0.12003	0.320000	0.23234	0.511000	0.50034	GAG	GSDMB	-	NULL		0.522	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	GSDMB	HGNC	protein_coding		C	NM_018530		38061148	-1	no_errors	ENST00000360317	ensembl	human	known	70_37	missense	SNP	0.005	T	T	38061148	C	T	38061148	3	4	160	1	0	0	0	0	1	0	0	0	6837	835	29	1	86	1	GSDMB	17	38061148	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	37	38061148	43134062	1815	30088										
MED24	9862	genome.wustl.edu	37	chr17	38179451	38179451	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtgtcaaagatgtggatgGagcggctgtccacccagccc	15	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38179451G>C	ENST00000394128.2	-	20	2264	c.2183C>G	c.(2182-2184)tCc>tGc	p.S728C	MED24_ENST00000394127.2_Missense_Mutation_p.S715C|MED24_ENST00000501516.3_Missense_Mutation_p.S747C|MED24_ENST00000356271.3_Missense_Mutation_p.S715C|MED24_ENST00000394126.1_Missense_Mutation_p.S753C	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	728					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GATGTGGATGGAGCGGCTGTC	0.587																																																	0													67	62	64					17																	38179451		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2183C>G	17.37:g.38179451G>C	ENSP00000377686:p.Ser728Cys		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.S728C	ENST00000394128.2	37	c.2183	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606439	0.46527	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.47869	0.83;0.83;0.83	4.43	4.43	0.53597	Mediator complex, subunit Med24, N-terminal (1);	0.114317	0.64402	D	0.000011	T	0.50939	0.1645	N	0.22421	0.69	0.51767	D	0.999938	D;D;D;D;D;D	0.61697	0.99;0.965;0.975;0.965;0.971;0.965	P;P;P;P;P;P	0.57371	0.723;0.723;0.749;0.723;0.819;0.723	T	0.58381	-0.7646	10	0.72032	D	0.01	-20.4084	17.2528	0.87047	0.0:0.0:1.0:0.0	.	678;638;638;715;728;670	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	C	728;728;728;678;715;670;289;199;638	ENSP00000377686:S728C;ENSP00000443344:S678C;ENSP00000377685:S715C	ENSP00000348610:S728C	S	-	2	0	MED24	35432977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.607000	0.98328	2.280000	0.76307	0.561000	0.74099	TCC	MED24	-	pfam_Mediator_Med24_N		0.587	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	G	NM_014815		38179451	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38179451	G	C	38179451	3	2	160	1	0	0	0	0	1	0	0	0	9465	1174	41	1	814	1	MED24	17	38179451	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	118303	38179451	43015759	1816	30089										
NR1D1	9572	genome.wustl.edu	37	chr17	38253437	38253437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggatgacgacgaggaagatGaggaagaaggggagccgtca	18	5	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38253437G>A	ENST00000246672.3	-	2	881	c.251C>T	c.(250-252)tCa>tTa	p.S84L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	84	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.|Poly-Ser.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					cgaggaagatgaggaagaagg	0.607																																																	0													67	67	67					17																	38253437		2203	4300	6503	SO:0001583	missense	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.251C>T	17.37:g.38253437G>A	ENSP00000246672:p.Ser84Leu		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S84L	ENST00000246672.3	37	c.251	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556347	0.27827	.	.	ENSG00000126368	ENST00000246672	D	0.91945	-2.94	4.64	4.64	0.57946	.	0.681246	0.12844	N	0.434523	D	0.87589	0.6215	L	0.29908	0.895	0.23180	N	0.998165	B	0.21225	0.053	B	0.14023	0.01	T	0.75560	-0.3275	10	0.29301	T	0.29	.	16.4485	0.83972	0.0:0.0:1.0:0.0	.	84	P20393	NR1D1_HUMAN	L	84	ENSP00000246672:S84L	ENSP00000246672:S84L	S	-	2	0	NR1D1	35506963	0.352000	0.24895	0.182000	0.23118	0.396000	0.30629	2.967000	0.49216	2.409000	0.81822	0.462000	0.41574	TCA	NR1D1	-	NULL		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	G			38253437	-1	no_errors	ENST00000246672	ensembl	human	known	70_37	missense	SNP	0.175	A	A	38253437	G	A	38253437	3	1	160	1	0	0	0	0	1	0	0	0	10639	1294	45	1	1621	1	NR1D1	17	38253437	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	73986	38253437	42941773	1817	30090										
CASC3	22794	genome.wustl.edu	37	chr17	38318312	38318312	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggccctaagcatttggatGatgatgaagatcggaagaat	13	5	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38318312G>A	ENST00000264645.7	+	5	740	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	172	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCATTTGGATGATGATGAAGA	0.473																																																	0													87	88	88					17																	38318312		2203	4300	6503	SO:0001583	missense	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.514G>A	17.37:g.38318312G>A	ENSP00000264645:p.Asp172Asn		A8K8R0	Missense_Mutation	SNP	pfam_Btz_dom	p.D172N	ENST00000264645.7	37	c.514	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726098	0.69074	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.9	5.9	0.94986	CASC3/Barentsz eIF4AIII binding (1);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.80656	-0.1285	9	0.66056	D	0.02	-21.1968	19.0469	0.93025	0.0:0.0:1.0:0.0	.	172;172	B4DKR6;O15234	.;CASC3_HUMAN	N	172	.	ENSP00000264645:D172N	D	+	1	0	CASC3	35571838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.793000	0.96121	0.609000	0.83330	GAT	CASC3	-	pfam_Btz_dom		0.473	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	G	NM_007359		38318312	1	no_errors	ENST00000264645	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38318312	G	A	38318312	3	1	160	1	0	0	0	0	1	0	0	0	2666	1290	45	1	532	1	CASC3	17	38318312	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	64875	38318312	42876898	1818	30091										
TOP2A	7153	genome.wustl.edu	37	chr17	38547881	38547881	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacactgcccttaacatcatCagcttcaaggtctattattt	4	11	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:38547881C>G	ENST00000423485.1	-	33	4302	c.4144G>C	c.(4144-4146)Gat>Cat	p.D1382H	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1382					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAACATCATCAGCTTCAAGG	0.373																																																	0													95	83	87					17																	38547881		1868	4119	5987	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4144G>C	17.37:g.38547881C>G	ENSP00000411532:p.Asp1382His		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.D1382H	ENST00000423485.1	37	c.4144	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	c	9.377	1.071924	0.20147	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.24151	1.87	5.27	2.11	0.27256	.	1.600280	0.03230	N	0.178790	T	0.20129	0.0484	N	0.22421	0.69	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.28170	-1.0052	10	0.62326	D	0.03	.	6.9757	0.24674	0.0:0.7024:0.0:0.2976	.	1382	P11388	TOP2A_HUMAN	H	1382;1462;1405;1419	ENSP00000411532:D1382H	ENSP00000269577:D1462H	D	-	1	0	TOP2A	35801407	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.430000	0.21428	0.324000	0.23333	-1.112000	0.02068	GAT	TOP2A	-	NULL		0.373	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	C			38547881	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	missense	SNP	0.003	G	G	38547881	C	G	38547881	3	3	160	1	0	0	0	0	1	0	0	0	16396	826	29	1	463	1	TOP2A	17	38547881	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	229569	38547881	42647329	1819	30092										
KRT23	25984	genome.wustl.edu	37	chr17	39087627	39087627	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtgaagaaggaacttacttGaggttgaagtcatccactgc	11	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39087627G>C	ENST00000209718.3	-	3	901	c.477C>G	c.(475-477)ctC>ctG	p.L159L	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.L22L	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	159	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAACTTACTTGAGGTTGAAGT	0.453																																																	0													156	137	143					17																	39087627		2203	4300	6503	SO:0001819	synonymous_variant	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.477C>G	17.37:g.39087627G>C			A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	pfam_F,prints_Keratin_I	p.L159	ENST00000209718.3	37	c.477	CCDS11380.1	17																																																																																			KRT23	-	pfam_F,prints_Keratin_I		0.453	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	G			39087627	-1	no_errors	ENST00000209718	ensembl	human	known	70_37	silent	SNP	1.000	C	C	39087627	G	C	39087627	2	2	160	1	0	0	0	0	0	0	0	1	8480	1277	45	1		1	KRT23	17	39087627	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	539746	39087627	42107583	1820	30093										
KRT39	390792	genome.wustl.edu	37	chr17	39118419	39118419	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcttgctcagtaccattcGatgctgggcctgcagttcaa	10	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39118419G>A	ENST00000355612.2	-	5	1026	c.991C>T	c.(991-993)Cga>Tga	p.R331*	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	331	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R331*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGTACCATTCGATGCTGGGCC	0.498																																																	1	Substitution - Nonsense(1)	endometrium(1)											245	218	228					17																	39118419		2203	4296	6499	SO:0001587	stop_gained	390792			AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.991C>T	17.37:g.39118419G>A	ENSP00000347823:p.Arg331*		B2RXK6|Q6IFU6	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R331*	ENST00000355612.2	37	c.991	CCDS11382.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.986050	0.97173	.	.	ENSG00000196859	ENST00000355612	.	.	.	5.7	3.57	0.40892	.	0.430839	0.17314	N	0.178768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.2557	0.31756	0.0:0.1153:0.4351:0.4496	.	.	.	.	X	331	.	ENSP00000347823:R331X	R	-	1	2	KRT39	36371945	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	3.542000	0.53625	1.384000	0.46424	0.655000	0.94253	CGA	KRT39	-	pfam_F,prints_Keratin_I		0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT39	HGNC	protein_coding	OTTHUMT00000257287.1	G	NM_213656		39118419	-1	no_errors	ENST00000355612	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	39118419	G	A	39118419	4	1	160	1	0	0	0	0	0	1	0	0	8496	1066	37	1	496	1	KRT39	17	39118419	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	30792	39118419	42076791	1821	30094										
KRT35	3886	genome.wustl.edu	37	chr17	39634664	39634664	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggcgttgaccgtgcgtctCagctcgatgatctctgcctg	13	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39634664C>G	ENST00000393989.1	-	5	990	c.948G>C	c.(946-948)ctG>ctC	p.L316L	KRT35_ENST00000246639.2_Silent_p.L286L	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	316	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCGTGCGTCTCAGCTCGATGA	0.597																																																	0													100	85	90					17																	39634664		2203	4300	6503	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.948G>C	17.37:g.39634664C>G			O76012|Q92651	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L316	ENST00000393989.1	37	c.948	CCDS11394.2	17																																																																																			KRT35	-	pfam_F,superfamily_Prefoldin		0.597	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		C	NM_002280		39634664	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	silent	SNP	1.000	G	G	39634664	C	G	39634664	2	3	160	1	0	0	0	0	0	0	0	1	8492	813	29	1		1	KRT35	17	39634664	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	516245	39634664	41560546	1822	30095										
KRT13	3860	genome.wustl.edu	37	chr17	39659972	39659972	+	Silent	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgttttcaatggtggcggtCaggatctacaaaatgcagaa							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39659972C>T	ENST00000246635.3	-	2	547	c.501G>A	c.(499-501)ctG>ctA	p.L167L	KRT13_ENST00000336861.3_Silent_p.L167L|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.L167L|KRT13_ENST00000587118.1_5'UTR	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	167	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGGTGGCGGTCAGGATCTACA	0.512																																																	0													240	239	239					17																	39659972		2203	4300	6503	SO:0001819	synonymous_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.501G>A	17.37:g.39659972C>T			Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L167	ENST00000246635.3	37	c.501	CCDS11396.1	17																																																																																			KRT13	-	pfam_F		0.512	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	C	NM_153490		39659972	-1	no_errors	ENST00000246635	ensembl	human	known	70_37	silent	SNP	0.325	T	T	39659972	C	T	39659972	2	4	160	1	0	0	0	0	0	0	0	1	8470	813	29	1		1	KRT13	17	39659972	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	25308	39659972	41535238	1823	30096	192	2								
KRT13	3860	genome.wustl.edu	37	chr17	39659978	39659978	+	Splice_Site	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaatggtggcggtcaggatCtacaaaatgcagaagaaggt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39659978C>T	ENST00000246635.3	-	2	542		c.e2-1		KRT13_ENST00000336861.3_Splice_Site|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Splice_Site|KRT13_ENST00000587118.1_Splice_Site	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13						cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGTCAGGATCTACAAAATGC	0.498																																																	0													235	234	234					17																	39659978		2203	4300	6503	SO:0001630	splice_region_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.496-1G>A	17.37:g.39659978C>T			Q53G54|Q6AZK5|Q8N240	Splice_Site	SNP	-	e2-1	ENST00000246635.3	37	c.496-1	CCDS11396.1	17	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217882	0.58560	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9083	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT13	36913504	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.427000	0.80284	2.462000	0.83206	0.655000	0.94253	.	KRT13	-	-		0.498	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	C	NM_153490	Intron	39659978	-1	no_errors	ENST00000246635	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	39659978	C	T	39659978	5	4	160	1	0	0	0	0	0	0	1	0	8470	927	32	1	909	1	KRT13	17	39659978	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6	39659978	41535232	1824	30097	192	2								
HAP1	9001	genome.wustl.edu	37	chr17	39888584	39888584	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgatgcgagctgcagtgttCaggtccctctctctctgcag	11	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:39888584C>T	ENST00000310778.5	-	3	621	c.612G>A	c.(610-612)ctG>ctA	p.L204L	HAP1_ENST00000341193.5_Silent_p.L212L|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.L204L|HAP1_ENST00000393939.2_Silent_p.L204L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	204	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGCAGTGTTCAGGTCCCTCT	0.602																																																	0													66	59	62					17																	39888584		2203	4300	6503	SO:0001819	synonymous_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.612G>A	17.37:g.39888584C>T			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	pfam_HAP1_N	p.L204	ENST00000310778.5	37	c.612		17																																																																																			HAP1	-	pfam_HAP1_N		0.602	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39888584	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	silent	SNP	0.962	T	T	39888584	C	T	39888584	2	4	160	1	0	0	0	0	0	0	0	1	6973	813	29	1		1	HAP1	17	39888584	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	228606	39888584	41306626	1825	30098										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40847810	40847810	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggaggtctccttcagcttCagcaccagctccgcccctgc	10	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40847810C>T	ENST00000264638.4	+	19	3481	c.3264C>T	c.(3262-3264)ttC>ttT	p.F1088F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1088	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTTCAGCTTCAGCACCAGCT	0.622																																																	0													103	88	93					17																	40847810		2203	4300	6503	SO:0001819	synonymous_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3264C>T	17.37:g.40847810C>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F1088	ENST00000264638.4	37	c.3264	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.622	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	C	NM_003632		40847810	1	no_errors	ENST00000264638	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40847810	C	T	40847810	2	4	160	1	0	0	0	0	0	0	0	1	3651	825	29	1		1	CNTNAP1	17	40847810	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	959226	40847810	40347400	1826	30099										
EZH1	2145	genome.wustl.edu	37	chr17	40857136	40857136	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tattcagaaatgaattcgttCttctgcacagactcctttat	5	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40857136C>G	ENST00000428826.2	-	17	2026	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000435174.1_Missense_Mutation_p.K496N|EZH1_ENST00000585893.1_Missense_Mutation_p.K595N|EZH1_ENST00000415827.2_Missense_Mutation_p.K626N|EZH1_ENST00000590078.1_Missense_Mutation_p.K565N|EZH1_ENST00000592743.1_Missense_Mutation_p.K635N			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	635	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAATTCGTTCTTCTGCACAG	0.527																																																	0													96	90	92					17																	40857136		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1905G>C	17.37:g.40857136C>G	ENSP00000404658:p.Lys635Asn		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.K635N	ENST00000428826.2	37	c.1905	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399108	0.83120	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.84223	-1.82;-1.82	5.41	3.43	0.39272	SET domain (3);	0.088607	0.85682	D	0.000000	D	0.93077	0.7796	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.992;0.997;0.997;0.997;0.997	D	0.93486	0.6831	10	0.87932	D	0	.	11.9212	0.52793	0.0:0.8598:0.0:0.1402	.	496;595;641;565;635	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	N	638;635;595;496	ENSP00000404658:K635N;ENSP00000404071:K496N	ENSP00000264646:K638N	K	-	3	2	EZH1	38110662	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	0.844000	0.35094	0.563000	0.77884	AAG	EZH1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40857136	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40857136	C	G	40857136	3	3	160	1	0	0	0	0	1	0	0	0	5345	912	32	1	358	1	EZH1	17	40857136	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9326	40857136	40338074	1827	30100										
CCDC56	28958	genome.wustl.edu	37	chr17	40950669	40950669	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcctctccacgcttagaatCcagagggtcaccagctcccg	10	16	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40950669C>G	ENST00000328434.7	-	1	53	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_001040431.1	NP_001035521.1	Q9Y2R0	COA3_HUMAN	cytochrome c oxidase assembly factor 3	11					mitochondrial respiratory chain complex IV assembly (GO:0033617)|positive regulation of mitochondrial translation (GO:0070131)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											CGCTTAGAATCCAGAGGGTCA	0.662																																																	0													50	45	47					17																	40950669		2203	4300	6503	SO:0001583	missense	28958			AF070665	CCDS32660.1	17q21.31	2014-01-28	2012-10-15	2012-08-07				"Mitochondrial respiratory chain complex assembly factors"	24990	protein-coding gene	gene with protein product		614775	"coiled-coil domain containing 56"	CCDC56		22356826, 22610097	Standard	NM_001040431		Approved	HSPC009, MITRAC12	uc010wgz.2	Q9Y2R0		ENST00000328434.7:c.31G>C	17.37:g.40950669C>G	ENSP00000354762:p.Asp11His		A8K498	Missense_Mutation	SNP	pfam_Coiled-coil_56	p.D11H	ENST00000328434.7	37	c.31	CCDS32660.1	17	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310601	0.40895	.	.	ENSG00000183978	ENST00000328434	.	.	.	5.28	2.18	0.27775	.	0.640737	0.14747	N	0.300821	T	0.40862	0.1134	N	0.22421	0.69	0.09310	N	1	P	0.43542	0.81	P	0.55222	0.771	T	0.20505	-1.0273	9	0.38643	T	0.18	-4.1659	8.6048	0.33767	0.0:0.686:0.0:0.314	.	11	Q9Y2R0	CCD56_HUMAN	H	11	.	ENSP00000354762:D11H	D	-	1	0	CCDC56	38204195	.	.	0.004000	0.12327	0.017000	0.09413	.	.	0.363000	0.24346	0.655000	0.94253	GAT	COA3	-	pfam_Coiled-coil_56		0.662	COA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA3	HGNC	protein_coding	OTTHUMT00000452397.1	C	NM_014019		40950669	-1	no_errors	ENST00000328434	ensembl	human	known	70_37	missense	SNP	0.004	G	G	40950669	C	G	40950669	3	3	160	1	0	0	0	0	1	0	0	0	2831	855	30	1	297	1	CCDC56	17	40950669	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	93533	40950669	40244541	1828	30101										
CNTD1	124817	genome.wustl.edu	37	chr17	40951157	40951157	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggagttgtcgccacagagacGattgaagacgccctgcttca	12	11	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:40951157G>A	ENST00000588408.1	+	1	348	c.72G>A	c.(70-72)acG>acA	p.T24T	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	24										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCACAGAGACGATTGAAGACG	0.617																																																	0													54	49	51					17																	40951157		2203	4300	6503	SO:0001819	synonymous_variant	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.72G>A	17.37:g.40951157G>A			Q658Q6|Q8NEP1	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.T24	ENST00000588408.1	37	c.72	CCDS11440.1	17																																																																																			CNTD1	-	superfamily_Cyclin-like		0.617	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	G	NM_173478		40951157	1	no_errors	ENST00000588408	ensembl	human	known	70_37	silent	SNP	0.790	A	A	40951157	G	A	40951157	2	1	160	1	0	0	0	0	0	0	0	1	3640	1045	37	1		1	CNTD1	17	40951157	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	488	40951157	40244053	1829	30102										
RND2	8153	genome.wustl.edu	37	chr17	41177413	41177413	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgtggtggtgggagacgcaGagtgcggcaagacggcgctg	20	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:41177413G>C	ENST00000587250.2	+	1	156	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	VAT1_ENST00000355653.3_5'Flank|RND2_ENST00000544533.1_Missense_Mutation_p.E17Q			P52198	RND2_HUMAN	Rho family GTPase 2	17					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAGACGCAGAGTGCGGCAA	0.726																																																	0													22	16	18					17																	41177413		2082	4120	6202	SO:0001583	missense	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.49G>C	17.37:g.41177413G>C	ENSP00000466680:p.Glu17Gln		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E17Q	ENST00000587250.2	37	c.49	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673431	0.29693	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.69926	-0.44	4.52	3.51	0.40186	Small GTP-binding protein domain (1);	0.069917	0.64402	D	0.000019	T	0.39733	0.1089	N	0.01686	-0.76	0.42171	D	0.99164	B	0.06786	0.001	B	0.10450	0.005	T	0.21793	-1.0235	10	0.36615	T	0.2	.	13.0081	0.58717	0.0:0.525:0.475:0.0	.	17	P52198	RND2_HUMAN	Q	17	ENSP00000439328:E17Q	ENSP00000225973:E17Q	E	+	1	0	RND2	38430939	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	3.933000	0.56545	1.056000	0.40484	0.442000	0.29010	GAG	RND2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.726	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	G	NM_005440		41177413	1	no_errors	ENST00000544533	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41177413	G	C	41177413	3	2	160	1	0	0	0	0	1	0	0	0	13450	943	33	1	51	1	RND2	17	41177413	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	226256	41177413	40017797	1830	30103										
MPP2	4355	genome.wustl.edu	37	chr17	41955285	41955285	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctattgaccaggcagaggtCaaagtagtgcccgtagcccc	12	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:41955285C>G	ENST00000461854.1	-	14	1706	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H	MPP2_ENST00000377184.3_Missense_Mutation_p.D534H|MPP2_ENST00000536246.1_Missense_Mutation_p.D506H|MPP2_ENST00000520305.1_Missense_Mutation_p.D378H|MPP2_ENST00000523501.1_Missense_Mutation_p.D506H|MPP2_ENST00000269095.4_Missense_Mutation_p.D517H|MPP2_ENST00000518766.1_Missense_Mutation_p.D562H			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	541	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCAGAGGTCAAAGTAGTGC	0.632																																																	0													89	74	79					17																	41955285		2203	4300	6503	SO:0001583	missense	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1621G>C	17.37:g.41955285C>G	ENSP00000428286:p.Asp541His		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D541H	ENST00000461854.1	37	c.1621		17	.	.	.	.	.	.	.	.	.	.	c	27.6	4.850607	0.91277	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.21	5.21	0.72293	.	.	.	.	.	T	0.60483	0.2272	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70421	-0.4876	9	0.87932	D	0	.	16.3255	0.82978	0.0:1.0:0.0:0.0	.	562;534	E7EV80;Q14168-3	.;.	H	534;517;541;378;506;506;562	ENSP00000366389:D534H;ENSP00000269095:D517H;ENSP00000428286:D541H;ENSP00000428136:D378H;ENSP00000430540:D506H;ENSP00000438012:D506H;ENSP00000428182:D562H	ENSP00000269095:D517H	D	-	1	0	MPP2	39310811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.723000	0.84788	2.440000	0.82611	0.555000	0.69702	GAC	MPP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	C	NM_005374		41955285	-1	no_errors	ENST00000461854	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41955285	C	G	41955285	3	3	160	1	0	0	0	0	1	0	0	0	9757	826	29	1	113	1	MPP2	17	41955285	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	777872	41955285	39239925	1831	30104										
ASB16	92591	genome.wustl.edu	37	chr17	42255079	42255079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggtggaggcggtgctcccaGagctgtggaaggtatgtttg	19	6	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:42255079G>A	ENST00000293414.1	+	4	1249	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	389					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGTGCTCCCAGAGCTGTGGAA	0.607																																																	0													128	100	110					17																	42255079		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1165G>A	17.37:g.42255079G>A	ENSP00000293414:p.Glu389Lys		B2RBC0|Q8WXK0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.E389K	ENST00000293414.1	37	c.1165	CCDS11478.1	17	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781050	0.70222	.	.	ENSG00000161664	ENST00000293414	T	0.65916	-0.18	5.2	5.2	0.72013	.	0.182237	0.47093	D	0.000260	T	0.75027	0.3794	L	0.55213	1.73	0.45427	D	0.998402	D	0.76494	0.999	D	0.80764	0.994	T	0.76310	-0.3006	10	0.66056	D	0.02	-22.147	15.7572	0.78043	0.0:0.0:1.0:0.0	.	389	Q96NS5	ASB16_HUMAN	K	389	ENSP00000293414:E389K	ENSP00000293414:E389K	E	+	1	0	ASB16	39610605	1.000000	0.71417	0.992000	0.48379	0.795000	0.44927	5.155000	0.64900	2.709000	0.92574	0.491000	0.48974	GAG	ASB16	-	NULL		0.607	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	HGNC	protein_coding	OTTHUMT00000457703.1	G			42255079	1	no_errors	ENST00000293414	ensembl	human	known	70_37	missense	SNP	0.994	A	A	42255079	G	A	42255079	3	1	160	1	0	0	0	0	1	0	0	0	1021	943	33	1	1179	1	ASB16	17	42255079	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	299794	42255079	38940131	1832	30105										
SLC4A1	6521	genome.wustl.edu	37	chr17	42337808	42337808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcccggagcagctcctctCggtcctgaggccggatctgg	16	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:42337808C>G	ENST00000262418.6	-	6	604	c.449G>C	c.(448-450)cGa>cCa	p.R150P	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	150	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607																																																	0													49	47	48					17																	42337808		2203	4300	6503	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.449G>C	17.37:g.42337808C>G	ENSP00000262418:p.Arg150Pro		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.R150P	ENST00000262418.6	37	c.449	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	c	22.9	4.355622	0.82243	.	.	ENSG00000004939	ENST00000262418	T	0.73897	-0.79	5.38	4.41	0.53225	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.128403	0.46145	D	0.000305	D	0.88100	0.6346	M	0.91717	3.235	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.99	D	0.90289	0.4321	10	0.87932	D	0	.	13.0427	0.58908	0.0:0.9208:0.0:0.0792	rs55735880	150;150	E2RVJ0;P02730	.;B3AT_HUMAN	P	150	ENSP00000262418:R150P	ENSP00000262418:R150P	R	-	2	0	SLC4A1	39693334	0.996000	0.38824	0.988000	0.46212	0.734000	0.41952	3.355000	0.52262	1.281000	0.44480	0.462000	0.41574	CGA	SLC4A1	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.607	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	C	NM_000342		42337808	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42337808	C	G	42337808	3	3	160	1	0	0	0	0	1	0	0	0	14680	884	31	1	2346	1	SLC4A1	17	42337808	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	82729	42337808	38857402	1833	30106										
HEXIM2	124790	genome.wustl.edu	37	chr17	43246675	43246675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caacagcgggatgagaggcaGagccagagggcctcccgggt	17	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246675G>C	ENST00000307275.3	+	4	796	c.360G>C	c.(358-360)caG>caC	p.Q120H	RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.Q120H|HEXIM2_ENST00000592695.1_Missense_Mutation_p.Q120H	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	120					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						ATGAGAGGCAGAGCCAGAGGG	0.637																																																	0													30	35	33					17																	43246675		2203	4300	6503	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.360G>C	17.37:g.43246675G>C	ENSP00000302276:p.Gln120His		D3DX66	Missense_Mutation	SNP	NULL	p.Q120H	ENST00000307275.3	37	c.360	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074075	0.55646	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.83	2.84	0.33178	.	0.112290	0.64402	D	0.000014	T	0.68183	0.2973	M	0.62016	1.91	0.38833	D	0.955888	D	0.76494	0.999	D	0.71870	0.975	T	0.70128	-0.4957	9	0.87932	D	0	-39.5849	8.2091	0.31473	0.2499:0.0:0.7501:0.0	.	120	Q96MH2	HEXI2_HUMAN	H	120	.	ENSP00000302276:Q120H	Q	+	3	2	HEXIM2	40602458	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	3.144000	0.50616	0.761000	0.33130	-1.075000	0.02238	CAG	HEXIM2	-	NULL		0.637	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246675	1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43246675	G	C	43246675	3	2	160	1	0	0	0	0	1	0	0	0	7097	933	33	1	366	1	HEXIM2	17	43246675	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	908867	43246675	37948535	1834	30107			3	123		5	5	389	G		2.414131e-08
HEXIM2	124790	genome.wustl.edu	37	chr17	43246703	43246703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggcctcccgggtccgcgaaGagatgttcgccaaaggccag	15	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246703G>C	ENST00000307275.3	+	4	824	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E130Q|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E130Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	130					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GGTCCGCGAAGAGATGTTCGC	0.627																																																	0													36	40	39					17																	43246703		2203	4300	6503	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.388G>C	17.37:g.43246703G>C	ENSP00000302276:p.Glu130Gln		D3DX66	Missense_Mutation	SNP	NULL	p.E130Q	ENST00000307275.3	37	c.388	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	7.468	0.646003	0.14451	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.6	2.59	0.31030	.	0.100830	0.64402	D	0.000003	T	0.36468	0.0968	L	0.28115	0.83	0.34251	D	0.678814	B	0.16802	0.019	B	0.20384	0.029	T	0.38950	-0.9637	9	0.33940	T	0.23	-30.7555	9.2951	0.37811	0.0815:0.1454:0.7731:0.0	.	130	Q96MH2	HEXI2_HUMAN	Q	130	.	ENSP00000302276:E130Q	E	+	1	0	HEXIM2	40602486	1.000000	0.71417	0.985000	0.45067	0.234000	0.25298	6.042000	0.70996	0.670000	0.31165	-1.259000	0.01468	GAG	HEXIM2	-	NULL		0.627	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246703	1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43246703	G	C	43246703	3	2	160	1	0	0	0	0	1	0	0	0	7097	943	33	1	394	1	HEXIM2	17	43246703	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	28	43246703	37948507	1835	30108			3	123		5	5	389	G		2.414131e-08
HEXIM2	124790	genome.wustl.edu	37	chr17	43246907	43246907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggacttctctgagacttacGaacgcttccacaccgagagc	9	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246907G>A	ENST00000307275.3	+	4	1028	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E198K|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E198K	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	198					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						TGAGACTTACGAACGCTTCCA	0.657																																																	0																																										SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.592G>A	17.37:g.43246907G>A	ENSP00000302276:p.Glu198Lys		D3DX66	Missense_Mutation	SNP	NULL	p.E198K	ENST00000307275.3	37	c.592	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978211	0.74360	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.84683	2.71	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.86400	0.1741	9	0.87932	D	0	-26.6696	16.5996	0.84810	0.0:0.0:1.0:0.0	.	198	Q96MH2	HEXI2_HUMAN	K	198	.	ENSP00000302276:E198K	E	+	1	0	HEXIM2	40602690	1.000000	0.71417	0.961000	0.40146	0.066000	0.16364	7.501000	0.81600	2.563000	0.86464	0.561000	0.74099	GAA	HEXIM2	-	NULL		0.657	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246907	1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43246907	G	A	43246907	3	1	160	1	0	0	0	0	1	0	0	0	7097	1059	37	1	598	1	HEXIM2	17	43246907	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	204	43246907	37948303	1836	30109			3	123		5	5	389	G		2.414131e-08
HEXIM2	124790	genome.wustl.edu	37	chr17	43246949	43246949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagggccgcagcaagcagGagctggtgcgagactacctg	16	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43246949G>C	ENST00000307275.3	+	4	1070	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E212Q|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E212Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	212					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CAGCAAGCAGGAGCTGGTGCG	0.657																																																	0													13	10	11					17																	43246949		2137	4182	6319	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.634G>C	17.37:g.43246949G>C	ENSP00000302276:p.Glu212Gln		D3DX66	Missense_Mutation	SNP	NULL	p.E212Q	ENST00000307275.3	37	c.634	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753435	0.89753	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	L	0.58583	1.82	0.50313	D	0.99986	D	0.89917	1.0	D	0.87578	0.998	T	0.78216	-0.2290	9	0.66056	D	0.02	-29.0645	16.5996	0.84810	0.0:0.0:1.0:0.0	.	212	Q96MH2	HEXI2_HUMAN	Q	212	.	ENSP00000302276:E212Q	E	+	1	0	HEXIM2	40602732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.357000	0.79456	2.563000	0.86464	0.561000	0.74099	GAG	HEXIM2	-	NULL		0.657	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43246949	1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43246949	G	C	43246949	3	2	160	1	0	0	0	0	1	0	0	0	7097	1175	41	1	640	1	HEXIM2	17	43246949	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	42	43246949	37948261	1837	30110			3	123		5	5	389	G		2.414131e-08
HEXIM2	124790	genome.wustl.edu	37	chr17	43247063	43247063	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcagtcctgccgccaggtgGaggagctggctgccgaggtc	17	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:43247063G>C	ENST00000307275.3	+	4	1184	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E250Q|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E250Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	250	Interaction with CCNT1, HEXIM1 and HEXIM2.				negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CCGCCAGGTGGAGGAGCTGGC	0.662																																																	0													7	6	6					17																	43247063		1962	3858	5820	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.748G>C	17.37:g.43247063G>C	ENSP00000302276:p.Glu250Gln		D3DX66	Missense_Mutation	SNP	NULL	p.E250Q	ENST00000307275.3	37	c.748	CCDS11496.1	17	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415659	0.25552	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.39	3.34	0.38264	.	0.255167	0.40222	N	0.001148	T	0.16896	0.0406	N	0.17082	0.46	0.26093	N	0.98092	P	0.36392	0.551	B	0.28784	0.094	T	0.11842	-1.0571	9	0.18710	T	0.47	-26.4362	9.7084	0.40229	0.0:0.2115:0.7885:0.0	.	250	Q96MH2	HEXI2_HUMAN	Q	250	.	ENSP00000302276:E250Q	E	+	1	0	HEXIM2	40602846	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.829000	0.39121	2.436000	0.82500	0.462000	0.41574	GAG	HEXIM2	-	NULL		0.662	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	G	NM_144608		43247063	1	no_errors	ENST00000307275	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43247063	G	C	43247063	3	2	160	1	0	0	0	0	1	0	0	0	7097	1175	41	1	754	1	HEXIM2	17	43247063	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	114	43247063	37948147	1838	30111			3	123		5	5	389	G		2.414131e-08
LRRC37A2	474170	genome.wustl.edu	37	chr17	44630796	44630796	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgaaggtcattacaagaaGatgaagaaggattctcaagg	11	6	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:44630796G>A	ENST00000576629.1	+	12	5335	c.4840G>A	c.(4840-4842)Gat>Aat	p.D1614N	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.D1614N|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1614						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATTACAAGAAGATGAAGAAGG	0.373																																																	0													46	84	71					17																	44630796		2196	4291	6487	SO:0001583	missense	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4840G>A	17.37:g.44630796G>A	ENSP00000459551:p.Asp1614Asn		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D1614N	ENST00000576629.1	37	c.4840	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	g	11.64	1.700255	0.30142	.	.	ENSG00000238083	ENST00000333412	T	0.48836	0.8	2.45	0.143	0.14820	.	.	.	.	.	T	0.34745	0.0908	L	0.47716	1.5	0.09310	N	1	B;P	0.42827	0.395;0.791	B;B	0.38020	0.221;0.263	T	0.21999	-1.0229	9	0.62326	D	0.03	.	4.5532	0.12124	0.0:0.2514:0.4914:0.2572	.	575;1614	B3KRJ4;A6NM11	.;L37A2_HUMAN	N	1614	ENSP00000333071:D1614N	ENSP00000333071:D1614N	D	+	1	0	LRRC37A2	41986112	0.001000	0.12720	0.000000	0.03702	0.107000	0.19398	0.137000	0.15995	0.096000	0.17463	0.152000	0.16155	GAT	LRRC37A2	-	NULL		0.373	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	G	NM_001006607		44630796	1	no_errors	ENST00000333412	ensembl	human	known	70_37	missense	SNP	0.000	A	A	44630796	G	A	44630796	3	1	160	1	0	0	0	0	1	0	0	0	9015	942	33	1	4882	1	LRRC37A2	17	44630796	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1383733	44630796	36564414	1839	30112										
NSF	4905	genome.wustl.edu	37	chr17	44788416	44788416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagttactcgagttctagatGatggggagctgctggtgcag	15	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:44788416G>A	ENST00000398238.4	+	14	1665	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	NSF_ENST00000225282.8_Missense_Mutation_p.D426N|NSF_ENST00000575068.1_Missense_Mutation_p.D515N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	520					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGTTCTAGATGATGGGGAGCT	0.448																																					Ovarian(25;472 742 1472 36813 50223)												0													79	79	79					17																	44788416		2032	4196	6228	SO:0001583	missense	4905				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"ATPases / AAA-type"	8016	protein-coding gene	gene with protein product	"N-ethylmaleimide-sensitive factor-like protein"	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1558G>A	17.37:g.44788416G>A	ENSP00000381293:p.Asp520Asn		A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.D520N	ENST00000398238.4	37	c.1558	CCDS42354.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758105	0.89843	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	T;T	0.50548	0.74;0.74	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	L	0.56769	1.78	0.80722	D	1	P	0.51537	0.946	P	0.46659	0.523	T	0.43278	-0.9401	10	0.20046	T	0.44	-23.3133	19.8362	0.96658	0.0:0.0:1.0:0.0	.	520	P46459	NSF_HUMAN	N	520;426	ENSP00000381293:D520N;ENSP00000225282:D426N	ENSP00000225282:D426N	D	+	1	0	NSF	42143599	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	7.951000	0.87819	2.690000	0.91761	0.563000	0.77884	GAT	NSF	-	NULL		0.448	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	G	NM_006178		44788416	1	no_errors	ENST00000398238	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44788416	G	A	44788416	3	1	160	1	0	0	0	0	1	0	0	0	10695	1290	45	1	1612	1	NSF	17	44788416	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	157620	44788416	36406794	1840	30113										
SNX11	29916	genome.wustl.edu	37	chr17	46198670	46198670	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgaagaaaaggaccatttaGaagtgtgggctccagttgtt	13	5	0	3	rs371948730		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:46198670G>C	ENST00000393405.2	+	8	967	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	SNX11_ENST00000359238.2_Missense_Mutation_p.E205Q|SNX11_ENST00000439357.2_Missense_Mutation_p.E144Q|SNX11_ENST00000582104.1_Missense_Mutation_p.E197Q|SNX11_ENST00000452859.2_Missense_Mutation_p.E61Q|SNX11_ENST00000580219.1_Missense_Mutation_p.E197Q	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	205					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGACCATTTAGAAGTGTGGGC	0.507																																																	0								G	GLN/GLU,GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	144	138	140		613,613	4.1	0	17		140	0,8600		0,0,4300	no	missense,missense	SNX11	NM_013323.2,NM_152244.1	29,29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	205/271,205/271	46198670	1,13005	2203	4300	6503	SO:0001583	missense	29916			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.613G>C	17.37:g.46198670G>C	ENSP00000377059:p.Glu205Gln		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E205Q	ENST00000393405.2	37	c.613	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500280	0.44455	2.27E-4	0.0	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.68181	-0.31;-0.31	6.16	4.11	0.48088	.	0.463601	0.20480	N	0.091505	T	0.55924	0.1951	L	0.47716	1.5	0.09310	N	1	B;B;B	0.27498	0.148;0.18;0.18	B;B;B	0.22601	0.04;0.04;0.04	T	0.54022	-0.8355	10	0.62326	D	0.03	-24.2969	7.9517	0.30019	0.0807:0.0:0.761:0.1583	.	144;197;205	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	Q	61;205;144;205	ENSP00000377059:E205Q;ENSP00000352175:E205Q	ENSP00000352175:E205Q	E	+	1	0	SNX11	43553669	0.145000	0.22656	0.024000	0.17045	0.830000	0.47004	2.108000	0.41854	1.616000	0.50265	0.650000	0.86243	GAA	SNX11	-	NULL		0.507	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	G			46198670	1	no_errors	ENST00000359238	ensembl	human	known	70_37	missense	SNP	0.002	C	C	46198670	G	C	46198670	3	2	160	1	0	0	0	0	1	0	0	0	14912	943	33	1	635	1	SNX11	17	46198670	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1410254	46198670	34996540	1841	30114										
HOXB3	3213	genome.wustl.edu	37	chr17	46628394	46628395	+	Missense_Mutation	DNP	GC	GC	TT													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctccttctccagctccaccaGctgcgcgctcgtgtacgccg					rs534729258		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:46628394_46628395GC>TT	ENST00000470495.1	-	2	2044_2045	c.597_598GC>AA	c.(595-600)caGCtg>caAAtg	p.L200M	HOXB3_ENST00000311626.4_Missense_Mutation_p.L200M|HOXB3_ENST00000485909.2_Missense_Mutation_p.L68M|HOXB3_ENST00000476342.1_Missense_Mutation_p.L200M|HOXB3_ENST00000489475.1_Missense_Mutation_p.L127M|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.L127M|HOXB3_ENST00000490677.1_Missense_Mutation_p.L66M|HOXB3_ENST00000498678.1_Missense_Mutation_p.L200M|HOXB3_ENST00000460160.1_Missense_Mutation_p.L68M|HOXB-AS1_ENST00000435312.1_RNA			P14651	HXB3_HUMAN	homeobox B3	200				QL -> HV (in Ref. 2; AAD10852). {ECO:0000305}.	angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGCTCCACCAGCTGCGCGCTCG	0.703																																																	0																																										SO:0001583	missense	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.597_598delinsTT	17.37:g.46628394_46628395delinsTT	ENSP00000417207:p.Leu200Met		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation|Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L200M|p.Q199	ENST00000470495.1	37	c.598|c.597	CCDS11528.1	17																																																																																			HOXB3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.703	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	G|C			46628394|46628395	-1	no_errors	ENST00000311626	ensembl	human	known	70_37	missense|silent	SNP	1.000	T	TT	46628395	GC	TT	46628394	3	4	160	1	0	0	0	0	1	0	0	0	7322	962	34	4	701	4	HOXB3	17	46628394	Missense_Mutation	DNP	GC	TCGA-JW-A5VL-01A-11D-A28B-09	429724	46628394	34566816	1842	30115										
IGF2BP1	10642	genome.wustl.edu	37	chr17	47119632	47119632	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accttaccctttacaaccctGagaggaccatcactgtgaag	7	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:47119632G>A	ENST00000290341.3	+	9	1304	c.970G>A	c.(970-972)Gag>Aag	p.E324K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E185K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	324	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.|Sufficient for nuclear export.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTACAACCCTGAGAGGACCAT	0.537																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													125	121	122					17																	47119632		2203	4300	6503	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.970G>A	17.37:g.47119632G>A	ENSP00000290341:p.Glu324Lys		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.E324K	ENST00000290341.3	37	c.970	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.855174	0.97030	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.51325	0.71;0.71	5.35	5.35	0.76521	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	M	0.88031	2.925	0.80722	D	1	P;D	0.60160	0.843;0.987	D;D	0.67382	0.926;0.951	T	0.79388	-0.1824	10	0.87932	D	0	-30.6343	19.0202	0.92910	0.0:0.0:1.0:0.0	.	185;324	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	324;185	ENSP00000290341:E324K;ENSP00000389135:E185K	ENSP00000290341:E324K	E	+	1	0	IGF2BP1	44474631	1.000000	0.71417	0.963000	0.40424	0.986000	0.74619	9.696000	0.98695	2.648000	0.89879	0.655000	0.94253	GAG	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.537	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	G	NM_006546		47119632	1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47119632	G	A	47119632	3	1	160	1	0	0	0	0	1	0	0	0	7593	1291	45	1	1004	1	IGF2BP1	17	47119632	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	491238	47119632	34075578	1843	30116										
COL1A1	1277	genome.wustl.edu	37	chr17	48276789	48276789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caacgcttacccttgggcctCgggggccagtgtctcccttg	12	15	1	0	rs35183627		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48276789C>T	ENST00000225964.5	-	4	477	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	120					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCTTGGGCCTCGGGGGCCAGT	0.682			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0													32	38	36					17																	48276789		2203	4300	6503	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.359G>A	17.37:g.48276789C>T	ENSP00000225964:p.Arg120Gln		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R120Q	ENST00000225964.5	37	c.359	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230878	0.58777	.	.	ENSG00000108821	ENST00000225964	D	0.92752	-3.1	5.43	4.45	0.53987	.	0.231983	0.33057	N	0.005331	T	0.81870	0.4914	N	0.11131	0.1	0.30199	N	0.798793	B	0.10296	0.003	B	0.06405	0.002	T	0.71991	-0.4425	10	0.18276	T	0.48	.	11.1082	0.48216	0.0:0.9081:0.0:0.0919	rs35183627	120	P02452	CO1A1_HUMAN	Q	120	ENSP00000225964:R120Q	ENSP00000225964:R120Q	R	-	2	0	COL1A1	45631788	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	0.543000	0.23237	1.261000	0.44149	0.455000	0.32223	CGA	COL1A1	-	pfam_Collagen		0.682	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	C			48276789	-1	no_errors	ENST00000225964	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48276789	C	T	48276789	3	4	160	1	0	0	0	0	1	0	0	0	3682	884	31	1	4227	1	COL1A1	17	48276789	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1157157	48276789	32918421	1844	30117										
CACNA1G	8913	genome.wustl.edu	37	chr17	48655898	48655898	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccatcctggtcaacacactCagcatgggcatcgaatacca	8	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48655898C>A	ENST00000359106.5	+	9	2274	c.2274C>A	c.(2272-2274)ctC>ctA	p.L758L	CACNA1G_ENST00000514717.1_Silent_p.L758L|CACNA1G_ENST00000352832.5_Silent_p.L758L|CACNA1G_ENST00000515411.1_Silent_p.L758L|CACNA1G_ENST00000507336.1_Silent_p.L758L|CACNA1G_ENST00000514079.1_Silent_p.L758L|CACNA1G_ENST00000360761.4_Silent_p.L758L|CACNA1G_ENST00000515165.1_Silent_p.L758L|CACNA1G_ENST00000507609.1_Silent_p.L758L|CACNA1G_ENST00000503485.1_Silent_p.L758L|CACNA1G_ENST00000507896.1_Silent_p.L758L|CACNA1G_ENST00000513964.1_Silent_p.L758L|CACNA1G_ENST00000416767.4_Silent_p.L758L|CACNA1G_ENST00000510115.1_Silent_p.L758L|CACNA1G_ENST00000513689.2_Silent_p.L758L|CACNA1G_ENST00000505165.1_Silent_p.L758L|CACNA1G_ENST00000442258.2_Silent_p.L758L|CACNA1G_ENST00000512389.1_Silent_p.L758L|CACNA1G_ENST00000429973.2_Silent_p.L758L|CACNA1G_ENST00000507510.2_Silent_p.L758L|CACNA1G_ENST00000354983.4_Silent_p.L758L|CACNA1G_ENST00000502264.1_Silent_p.L758L|CACNA1G_ENST00000515765.1_Silent_p.L758L|CACNA1G_ENST00000510366.1_Silent_p.L758L|CACNA1G_ENST00000514181.1_Silent_p.L758L|CACNA1G_ENST00000358244.5_Silent_p.L758L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	758					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAACACACTCAGCATGGGCA	0.582																																																	0													61	64	63					17																	48655898		2087	4220	6307	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2274C>A	17.37:g.48655898C>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L758	ENST00000359106.5	37	c.2274	CCDS45730.1	17																																																																																			CACNA1G	-	NULL		0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	C	NM_018896		48655898	1	no_errors	ENST00000359106	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48655898	C	A	48655898	2	1	160	1	0	0	0	0	0	0	0	1	2549	813	29	3		3	CACNA1G	17	48655898	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	379109	48655898	32539312	1845	30118										
CACNA1G	8913	genome.wustl.edu	37	chr17	48685357	48685357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgggaggagaagcgcctacGaagactggagaaaaagagaa	16	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48685357G>A	ENST00000359106.5	+	25	4682	c.4682G>A	c.(4681-4683)cGa>cAa	p.R1561Q	CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1504Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1538Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1527Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1561Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1538Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1561					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGCGCCTACGAAGACTGGAG	0.577																																																	0													58	65	63					17																	48685357		1982	4150	6132	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4682G>A	17.37:g.48685357G>A	ENSP00000352011:p.Arg1561Gln		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1561Q	ENST00000359106.5	37	c.4682	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	18.86	3.713442	0.68730	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96885	-4.04;-4.07;-4.03;-4.08;-4.04;-4.09;-4.15;-4.07;-4.16;-4.08;-4.0;-4.04;-4.09;-4.03;-4.02;-4.05;-4.06;-4.04;-4.12;-4.07;-4.0;-4.1;-4.05;-4.05;-4.09	4.75	3.75	0.43078	.	0.622717	0.15324	N	0.268402	D	0.95335	0.8486	L	0.58810	1.83	0.09310	N	1	B;P;B;B;P;B;B;B;B;P;B;P;B;P;B;B;P;P;B;B;B;B;B;D;D	0.58970	0.107;0.497;0.212;0.348;0.5;0.365;0.212;0.062;0.212;0.718;0.047;0.856;0.316;0.88;0.365;0.073;0.673;0.501;0.308;0.216;0.147;0.114;0.107;0.984;0.968	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B	0.48304	0.021;0.248;0.049;0.094;0.064;0.132;0.073;0.064;0.073;0.195;0.022;0.264;0.192;0.173;0.132;0.012;0.248;0.063;0.064;0.167;0.035;0.094;0.049;0.573;0.286	D	0.89539	0.3791	10	0.56958	D	0.05	.	10.6203	0.45476	0.1591:0.0:0.8409:0.0	.	1504;1527;1527;1561;1527;1561;1561;1527;1561;1561;1561;1538;1561;1561;1561;1561;1561;1538;1561;1538;1538;1538;1538;1561;1538	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Q	1538;1538;1538;1538;1538;1561;1527;1504;1527;1527;1561;1561;1527;1561;1538;1561;1561;1561;1561;1538;1561;1561;1561;1561;1561	ENSP00000353990:R1538Q;ENSP00000339302:R1538Q;ENSP00000347078:R1538Q;ENSP00000409759:R1538Q;ENSP00000425522:R1538Q;ENSP00000426261:R1561Q;ENSP00000425451:R1527Q;ENSP00000422407:R1504Q;ENSP00000426814:R1527Q;ENSP00000427238:R1527Q;ENSP00000423112:R1561Q;ENSP00000420918:R1561Q;ENSP00000426172:R1527Q;ENSP00000423045:R1561Q;ENSP00000427173:R1538Q;ENSP00000426098:R1561Q;ENSP00000425698:R1561Q;ENSP00000426232:R1561Q;ENSP00000423317:R1561Q;ENSP00000350979:R1538Q;ENSP00000352011:R1561Q;ENSP00000414388:R1561Q;ENSP00000423155:R1561Q;ENSP00000422268:R1561Q;ENSP00000421518:R1561Q	ENSP00000339302:R1538Q	R	+	2	0	CACNA1G	46040356	0.455000	0.25736	0.867000	0.34043	0.977000	0.68977	2.647000	0.46639	0.965000	0.38133	0.549000	0.68633	CGA	CACNA1G	-	prints_VDCC_T_a1su		0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	G	NM_018896		48685357	1	no_errors	ENST00000359106	ensembl	human	known	70_37	missense	SNP	0.021	A	A	48685357	G	A	48685357	3	1	160	1	0	0	0	0	1	0	0	0	2549	1058	37	1	5026	1	CACNA1G	17	48685357	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	29459	48685357	32509853	1846	30119										
LUC7L3	51747	genome.wustl.edu	37	chr17	48822088	48822088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagcctttttaatagtaggaGatgcccagtcccgggtagat	12	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48822088G>A	ENST00000505658.1	+	7	796	c.607G>A	c.(607-609)Gat>Aat	p.D203N	LUC7L3_ENST00000240304.1_Missense_Mutation_p.D203N|LUC7L3_ENST00000544170.1_Missense_Mutation_p.D127N|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D203N			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	203					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AATAGTAGGAGATGCCCAGTC	0.343																																																	0													98	100	99					17																	48822088		2203	4300	6503	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.607G>A	17.37:g.48822088G>A	ENSP00000425092:p.Asp203Asn		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	pfam_LUC7-rel	p.D203N	ENST00000505658.1	37	c.607	CCDS11573.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.165082	0.94727	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.59	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.92970	3.365	0.80722	D	1	D;B;B	0.89917	1.0;0.049;0.129	D;B;B	0.97110	1.0;0.019;0.032	T	0.74951	-0.3489	10	0.87932	D	0	-16.093	14.583	0.68305	0.0701:0.0:0.9299:0.0	.	127;203;203	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	N	203;203;203;203;127	ENSP00000425092:D203N;ENSP00000376919:D203N;ENSP00000240304:D203N;ENSP00000444253:D127N	ENSP00000240304:D203N	D	+	1	0	LUC7L3	46177087	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.765000	0.98953	1.380000	0.46344	0.563000	0.77884	GAT	LUC7L3	-	pfam_LUC7-rel		0.343	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	G	NM_016424		48822088	1	no_errors	ENST00000240304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48822088	G	A	48822088	3	1	160	1	0	0	0	0	1	0	0	0	9107	942	33	1	633	1	LUC7L3	17	48822088	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	136731	48822088	32373122	1847	30120										
WFIKKN2	124857	genome.wustl.edu	37	chr17	48917537	48917537	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggaacgtggctggggtcctGagggctgatttcccgctgtc	16	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:48917537G>A	ENST00000311378.4	+	2	1416	c.888G>A	c.(886-888)ctG>ctA	p.L296L	WFIKKN2_ENST00000426127.1_Silent_p.L203L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	296	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L296L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGGGTCCTGAGGGCTGATT	0.637																																																	1	Substitution - coding silent(1)	lung(1)											67	56	60					17																	48917537		2203	4300	6503	SO:0001819	synonymous_variant	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.888G>A	17.37:g.48917537G>A			Q6UXZ9	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.L296	ENST00000311378.4	37	c.888	CCDS11575.1	17																																																																																			WFIKKN2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.637	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	G	NM_175575		48917537	1	no_errors	ENST00000311378	ensembl	human	known	70_37	silent	SNP	0.156	A	A	48917537	G	A	48917537	2	1	160	1	0	0	0	0	0	0	0	1	17390	1277	45	1		1	WFIKKN2	17	48917537	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	95449	48917537	32277673	1848	30121										
STXBP4	252983	genome.wustl.edu	37	chr17	53150329	53150329	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catcttgctgaagctgctcaGagacaggcacatggaatgga	12	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:53150329G>C	ENST00000376352.2	+	13	1287	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	STXBP4_ENST00000434978.2_Missense_Mutation_p.Q338H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	360					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGCTGCTCAGAGACAGGCAC	0.418																																																	0													113	102	106					17																	53150329		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1080G>C	17.37:g.53150329G>C	ENSP00000365530:p.Gln360His		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.Q360H	ENST00000376352.2	37	c.1080	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189917	0.57909	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.50548	0.74;0.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.69243	-0.5196	10	0.33940	T	0.23	-8.9246	18.5196	0.90947	0.0:0.0:1.0:0.0	.	338;360	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	360;338	ENSP00000365530:Q360H;ENSP00000391087:Q338H	ENSP00000365530:Q360H	Q	+	3	2	STXBP4	50505328	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.263000	0.51546	2.593000	0.87608	0.650000	0.86243	CAG	STXBP4	-	NULL		0.418	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53150329	1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53150329	G	C	53150329	3	2	160	1	0	0	0	0	1	0	0	0	15385	933	33	1	1122	1	STXBP4	17	53150329	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4232792	53150329	28044881	1849	30122										
ANKFN1	162282	genome.wustl.edu	37	chr17	54543853	54543853	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcaaatggatgcagatctCaaagctgcaaagccagagaa	11	8	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:54543853C>G	ENST00000318698.2	+	14	1738	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.S568*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	568										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCAGATCTCAAAGCTGCAA	0.393																																																	0													87	79	82					17																	54543853		2203	4300	6503	SO:0001587	stop_gained	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1703C>G	17.37:g.54543853C>G	ENSP00000321627:p.Ser568*			Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.S568*	ENST00000318698.2	37	c.1703	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.892051	0.97074	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.45	5.45	0.79879	.	0.238105	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.8637	19.2944	0.94117	0.0:1.0:0.0:0.0	.	.	.	.	X	568	.	ENSP00000321627:S568X	S	+	2	0	ANKFN1	51898852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.784000	0.68990	2.561000	0.86390	0.655000	0.94253	TCA	ANKFN1	-	NULL		0.393	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	C	NM_153228		54543853	1	no_errors	ENST00000318698	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	54543853	C	G	54543853	4	3	160	1	0	0	0	0	0	1	0	0	625	838	29	1	1757	1	ANKFN1	17	54543853	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1393524	54543853	26651357	1850	30123										
SCPEP1	59342	genome.wustl.edu	37	chr17	55065599	55065599	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttccattctacattttctCagagtcctatggaggaaaaa	7	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:55065599C>G	ENST00000262288.3	+	5	549	c.494C>G	c.(493-495)tCa>tGa	p.S165*	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	165					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TACATTTTCTCAGAGTCCTAT	0.328																																																	0													143	143	143					17																	55065599		2203	4300	6503	SO:0001587	stop_gained	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.494C>G	17.37:g.55065599C>G	ENSP00000262288:p.Ser165*		Q96A94|Q9H3F0	Nonsense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.S165*	ENST00000262288.3	37	c.494	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.842486	0.97016	.	.	ENSG00000121064	ENST00000262288	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.7414	19.8407	0.96681	0.0:1.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000262288:S165X	S	+	2	0	SCPEP1	52420598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.970000	0.76099	2.763000	0.94921	0.563000	0.77884	TCA	SCPEP1	-	pfam_Peptidase_S10,prints_Peptidase_S10		0.328	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	C	NM_021626		55065599	1	no_errors	ENST00000262288	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	55065599	C	G	55065599	4	3	160	1	0	0	0	0	0	1	0	0	13965	838	29	1	512	1	SCPEP1	17	55065599	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	521746	55065599	26129611	1851	30124										
SCPEP1	59342	genome.wustl.edu	37	chr17	55072350	55072350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatttcctttagattcggtgCtctcctggggaccttacctg	10	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:55072350C>A	ENST00000262288.3	+	7	683	c.628C>A	c.(628-630)Ctc>Atc	p.L210I	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	210					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGATTCGGTGCTCTCCTGGGG	0.453																																																	0													210	169	183					17																	55072350		2203	4300	6503	SO:0001583	missense	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.628C>A	17.37:g.55072350C>A	ENSP00000262288:p.Leu210Ile		Q96A94|Q9H3F0	Nonsense_Mutation	SNP	pfam_Peptidase_S10	p.C119*	ENST00000262288.3	37	c.357	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055537	0.75960	.	.	ENSG00000121064	ENST00000262288	T	0.44881	0.91	5.96	3.93	0.45458	.	0.206543	0.49916	D	0.000122	T	0.49201	0.1543	M	0.84156	2.68	0.47123	D	0.99932	B	0.29531	0.247	B	0.36959	0.237	T	0.42396	-0.9454	10	0.16896	T	0.51	-21.0329	13.29	0.60267	0.1272:0.7508:0.122:0.0	.	210	Q9HB40	RISC_HUMAN	I	210	ENSP00000262288:L210I	ENSP00000262288:L210I	L	+	1	0	SCPEP1	52427349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.986000	0.40677	0.815000	0.34398	-0.172000	0.13284	CTC	SCPEP1	-	NULL		0.453	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	C	NM_021626		55072350	1	no_errors	ENST00000572591	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55072350	C	A	55072350	3	1	160	1	0	0	0	0	1	0	0	0	13965	797	28	4	654	4	SCPEP1	17	55072350	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6751	55072350	26122860	1852	30125										
EPX	8288	genome.wustl.edu	37	chr17	56277152	56277152	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagctggcggatcgtgtatGaaggtgaccaggttttccag	14	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56277152G>A	ENST00000225371.5	+	9	1644	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	512					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GATCGTGTATGAAGGTGACCA	0.612																																																	0													62	57	59					17																	56277152		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1534G>A	17.37:g.56277152G>A	ENSP00000225371:p.Glu512Lys		Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.E512K	ENST00000225371.5	37	c.1534	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744220	0.89663	.	.	ENSG00000121053	ENST00000225371	T	0.73575	-0.76	5.51	4.51	0.55191	.	0.186663	0.56097	D	0.000030	T	0.82089	0.4961	M	0.81802	2.56	0.58432	D	0.999999	D	0.55605	0.972	P	0.53006	0.715	D	0.85108	0.0961	10	0.72032	D	0.01	-9.1143	14.1985	0.65686	0.0:0.1508:0.8492:0.0	.	512	P11678	PERE_HUMAN	K	512	ENSP00000225371:E512K	ENSP00000225371:E512K	E	+	1	0	EPX	53632151	1.000000	0.71417	0.872000	0.34217	0.604000	0.37047	4.604000	0.61112	1.407000	0.46875	0.655000	0.94253	GAA	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	G	NM_000502		56277152	1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.997	A	A	56277152	G	A	56277152	3	1	160	1	0	0	0	0	1	0	0	0	5212	1291	45	1	1568	1	EPX	17	56277152	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1204802	56277152	24918058	1853	30126										
BZRAP1	9256	genome.wustl.edu	37	chr17	56393399	56393399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctaccttcaaaaaagccatCctcatccatgttgccataga	4	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56393399C>G	ENST00000343736.4	-	16	2246	c.2083G>C	c.(2083-2085)Gat>Cat	p.D695H	BZRAP1_ENST00000355701.3_Missense_Mutation_p.D695H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D635H			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	695	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAAAGCCATCCTCATCCATG	0.498																																																	0													206	169	182					17																	56393399		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2083G>C	17.37:g.56393399C>G	ENSP00000345824:p.Asp695His		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.D695H	ENST00000343736.4	37	c.2083	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967724	0.92855	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.57107	0.42;0.42;0.42	5.69	5.69	0.88448	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.84646	0.0698	10	0.87932	D	0	.	18.7998	0.92011	0.0:1.0:0.0:0.0	.	695;635;695	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	695;695;635	ENSP00000347929:D695H;ENSP00000345824:D695H;ENSP00000268893:D635H	ENSP00000268893:D635H	D	-	1	0	BZRAP1	53748398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.674000	0.91012	0.655000	0.94253	GAT	BZRAP1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.498	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	C	NM_004758		56393399	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56393399	C	G	56393399	3	3	160	1	0	0	0	0	1	0	0	0	1580	855	30	1	3554	1	BZRAP1	17	56393399	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	116247	56393399	24801811	1854	30127										
MTMR4	9110	genome.wustl.edu	37	chr17	56572509	56572509	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcactggagaagggcagttCagtggaacgggctttgtgct	17	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56572509C>G	ENST00000323456.5	-	16	3118	c.2994G>C	c.(2992-2994)ctG>ctC	p.L998L	MTMR4_ENST00000579925.1_Silent_p.L941L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	998					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGGGCAGTTCAGTGGAACGG	0.507																																																	0													205	190	195					17																	56572509		2203	4300	6503	SO:0001819	synonymous_variant	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2994G>C	17.37:g.56572509C>G			D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.L998	ENST00000323456.5	37	c.2994	CCDS11608.1	17																																																																																			MTMR4	-	NULL		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	C	NM_004687		56572509	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	silent	SNP	0.993	G	G	56572509	C	G	56572509	2	3	160	1	0	0	0	0	0	0	0	1	9969	813	29	1		1	MTMR4	17	56572509	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	179110	56572509	24622701	1855	30128										
TEX14	56155	genome.wustl.edu	37	chr17	56676893	56676893	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctggggctgctggcctcttCtgccataaatggagcagggc	15	11	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:56676893C>G	ENST00000240361.8	-	14	1916	c.1831G>C	c.(1831-1833)Gaa>Caa	p.E611Q	TEX14_ENST00000389934.3_Missense_Mutation_p.E605Q|TEX14_ENST00000349033.5_Missense_Mutation_p.E605Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	611					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)			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)					CTGGCCTCTTCTGCCATAAAT	0.517																																																	0													53	53	53					17																	56676893		2203	4300	6503	SO:0001583	missense	56155			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.1831G>C	17.37:g.56676893C>G	ENSP00000240361:p.Glu611Gln		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.E611Q	ENST00000240361.8	37	c.1831	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911705	0.52439	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80566	-1.39;-1.39;-1.34	5.61	2.41	0.29592	.	1.055410	0.07422	N	0.894134	T	0.68100	0.2964	L	0.27053	0.805	0.09310	N	1	B;B;B	0.34200	0.177;0.441;0.441	B;B;B	0.33846	0.067;0.171;0.171	T	0.52983	-0.8502	10	0.17832	T	0.49	-1.7614	8.1996	0.31417	0.0:0.6211:0.2959:0.083	.	611;605;605	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	611;605;605	ENSP00000240361:E611Q;ENSP00000374584:E605Q;ENSP00000268910:E605Q	ENSP00000240361:E611Q	E	-	1	0	TEX14	54031892	0.000000	0.05858	0.137000	0.22149	0.804000	0.45430	0.413000	0.21148	0.683000	0.31428	0.655000	0.94253	GAA	TEX14	-	NULL		0.517	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	C			56676893	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	missense	SNP	0.001	G	G	56676893	C	G	56676893	3	3	160	1	0	0	0	0	1	0	0	0	15808	922	32	1	2742	1	TEX14	17	56676893	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	104384	56676893	24518317	1856	30129										
C17orf71	55181	genome.wustl.edu	37	chr17	57287808	57287808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaccgaactgaggcaggctcCcaggactacagccttctgca	10	14	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:57287808C>T	ENST00000543872.2	+	2	660	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.S132S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.S132S			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	132					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGGCAGGCTCCCAGGACTACA	0.592																																																	0													43	42	42					17																	57287808		2203	4300	6503	SO:0001819	synonymous_variant	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.396C>T	17.37:g.57287808C>T			Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.S132	ENST00000543872.2	37	c.396	CCDS11615.1	17																																																																																			SMG8	-	NULL		0.592	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	C	NM_018149		57287808	1	no_errors	ENST00000300917	ensembl	human	known	70_37	silent	SNP	0.905	T	T	57287808	C	T	57287808	2	4	160	1	0	0	0	0	0	0	0	1	1882	610	22	4		4	C17orf71	17	57287808	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	610915	57287808	23907402	1857	30130										
CLTC	1213	genome.wustl.edu	37	chr17	57754406	57754406	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccttagccaaaatctacataGacagtaataacaacccggag	6	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:57754406G>C	ENST00000269122.3	+	17	2927	c.2653G>C	c.(2653-2655)Gac>Cac	p.D885H	CLTC_ENST00000393043.1_Missense_Mutation_p.D885H|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	885	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATCTACATAGACAGTAATAA	0.453			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													76	80	79					17																	57754406		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2653G>C	17.37:g.57754406G>C	ENSP00000269122:p.Asp885His		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D885H	ENST00000269122.3	37	c.2653	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.061405	0.93846	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20738	2.05;2.05	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.71424	-0.4597	10	0.87932	D	0	.	19.2911	0.94100	0.0:0.0:1.0:0.0	.	885;885	Q00610;Q00610-2	CLH1_HUMAN;.	H	885	ENSP00000269122:D885H;ENSP00000376763:D885H	ENSP00000269122:D885H	D	+	1	0	CLTC	55109188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.569000	0.86673	0.557000	0.71058	GAC	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.453	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	G	NM_004859		57754406	1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57754406	G	C	57754406	3	2	160	1	0	0	0	0	1	0	0	0	3571	942	33	1	2719	1	CLTC	17	57754406	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	466598	57754406	23440804	1858	30131										
CLTC	1213	genome.wustl.edu	37	chr17	57761320	57761320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaatgaatcattgaacaatCtttttattacagaagaagat	6	4	2	6			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:57761320C>G	ENST00000269122.3	+	28	4682	c.4408C>G	c.(4408-4410)Ctt>Gtt	p.L1470V	CLTC_ENST00000393043.1_Missense_Mutation_p.L1470V|CLTC_ENST00000579456.1_Missense_Mutation_p.L407V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1470	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTGAACAATCTTTTTATTAC	0.308			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													60	58	59					17																	57761320		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4408C>G	17.37:g.57761320C>G	ENSP00000269122:p.Leu1470Val		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.L1470V	ENST00000269122.3	37	c.4408	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761766	0.49468	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.25085	1.82;1.82	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.63843	1.955	0.80722	D	1	D;B	0.69078	0.997;0.064	D;B	0.87578	0.998;0.185	T	0.44817	-0.9303	10	0.54805	T	0.06	.	19.8621	0.96787	0.0:1.0:0.0:0.0	.	1470;1470	Q00610;Q00610-2	CLH1_HUMAN;.	V	1470	ENSP00000269122:L1470V;ENSP00000376763:L1470V	ENSP00000269122:L1470V	L	+	1	0	CLTC	55116102	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	CTT	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.308	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	C	NM_004859		57761320	1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57761320	C	G	57761320	3	3	160	1	0	0	0	0	1	0	0	0	3571	913	32	1	4518	1	CLTC	17	57761320	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6914	57761320	23433890	1859	30132										
RPS6KB1	6198	genome.wustl.edu	37	chr17	58011881	58011881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgtatgacatgctgactgGagcagtaggtgcacagttaa	12	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:58011881G>A	ENST00000225577.4	+	9	887	c.866G>A	c.(865-867)gGa>gAa	p.G289E	RPS6KB1_ENST00000393021.3_Missense_Mutation_p.G236E|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.G289E|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.G266E	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.G289E(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ATGCTGACTGGAGCAGTAGGT	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)											108	90	96					17																	58011881		2203	4300	6503	SO:0001583	missense	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.866G>A	17.37:g.58011881G>A	ENSP00000225577:p.Gly289Glu		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.G289E	ENST00000225577.4	37	c.866	CCDS11621.1	17	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882765	0.91740	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83966	0.0324	10	0.87932	D	0	.	19.2439	0.93895	0.0:0.0:1.0:0.0	.	266;289;289	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	E	266;289;289;236	ENSP00000441993:G266E;ENSP00000384335:G289E;ENSP00000225577:G289E;ENSP00000376744:G236E	ENSP00000225577:G289E	G	+	2	0	RPS6KB1	55366663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.406000	0.97321	2.614000	0.88457	0.650000	0.86243	GGA	RPS6KB1	-	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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom		0.463	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	HGNC	protein_coding	OTTHUMT00000319324.1	G	NM_003161		58011881	1	no_errors	ENST00000225577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58011881	G	A	58011881	3	1	160	1	0	0	0	0	1	0	0	0	13686	1174	41	1	900	1	RPS6KB1	17	58011881	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	250561	58011881	23183329	1860	30133										
HEATR6	63897	genome.wustl.edu	37	chr17	58121197	58121197	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcagttcaagggtttctttCatacaagggaggtccgaggc	12	9	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:58121197C>T	ENST00000184956.6	-	20	3289	c.3273G>A	c.(3271-3273)atG>atA	p.M1091I	MIR4737_ENST00000583979.1_RNA|AC005702.2_ENST00000577558.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|HEATR6_ENST00000585976.1_Missense_Mutation_p.M979I|AC005702.1_ENST00000581326.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1091							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGGTTTCTTTCATACAAGGGA	0.488																																																	0													101	102	102					17																	58121197		2203	4300	6503	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3273G>A	17.37:g.58121197C>T	ENSP00000184956:p.Met1091Ile		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M1091I	ENST00000184956.6	37	c.3273	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295617	0.00245	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.62105	0.05	5.15	3.15	0.36227	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	N	0.000007	T	0.23210	0.0561	N	0.00966	-1.09	0.21897	N	0.99949	B;B	0.14012	0.009;0.0	B;B	0.08055	0.003;0.0	T	0.33624	-0.9861	10	0.02654	T	1	-7.7341	6.3136	0.21178	0.1636:0.1533:0.6832:0.0	.	826;1091	E7ESB9;Q6AI08	.;HEAT6_HUMAN	I	1091;826	ENSP00000184956:M1091I	ENSP00000184956:M1091I	M	-	3	0	HEATR6	55475979	0.008000	0.16893	0.637000	0.29366	0.016000	0.09150	0.114000	0.15520	0.674000	0.31244	-0.134000	0.14843	ATG	HEATR6	-	superfamily_ARM-type_fold		0.488	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	C	NM_022070		58121197	-1	no_errors	ENST00000184956	ensembl	human	known	70_37	missense	SNP	0.564	T	T	58121197	C	T	58121197	3	4	160	1	0	0	0	0	1	0	0	0	7053	826	29	1	276	1	HEATR6	17	58121197	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	109316	58121197	23074013	1861	30134										
BRIP1	83990	genome.wustl.edu	37	chr17	59760950	59760950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agccaatctatttcctctatCagtttcagctaggtcatttt	5	10	5	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:59760950C>G	ENST00000259008.2	-	20	3724	c.3457G>C	c.(3457-3459)Gat>Cat	p.D1153H		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1153					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCCTCTATCAGTTTCAGCT	0.318			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													72	71	71					17																	59760950		2203	4299	6502	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3457G>C	17.37:g.59760950C>G	ENSP00000259008:p.Asp1153His		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.D1153H	ENST00000259008.2	37	c.3457	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372973	0.24857	.	.	ENSG00000136492	ENST00000259008	T	0.78003	-1.14	5.46	3.1	0.35709	.	1.233050	0.05622	N	0.580145	T	0.71913	0.3396	L	0.27053	0.805	0.09310	N	0.999997	P	0.45348	0.856	P	0.46718	0.525	T	0.60994	-0.7152	9	.	.	.	-6.986	8.1326	0.31035	0.0:0.7659:0.0:0.2341	.	1153	Q9BX63	FANCJ_HUMAN	H	1153	ENSP00000259008:D1153H	.	D	-	1	0	BRIP1	57115732	0.014000	0.17966	0.294000	0.24946	0.009000	0.06853	1.140000	0.31516	1.431000	0.47355	0.563000	0.77884	GAT	BRIP1	-	NULL		0.318	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59760950	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	0.056	G	G	59760950	C	G	59760950	3	3	160	1	0	0	0	0	1	0	0	0	1517	826	29	1	296	1	BRIP1	17	59760950	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1639753	59760950	21434260	1862	30135										
INTS2	57508	genome.wustl.edu	37	chr17	59958458	59958458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtccctgtgatttcttcttCacaaatccagtcatccacaa	4	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:59958458C>T	ENST00000444766.3	-	17	2263	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	INTS2_ENST00000251334.6_Missense_Mutation_p.E722K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	730					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTTCTTCTTCACAAATCCAG	0.388																																																	0													112	105	108					17																	59958458		1903	4126	6029	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2188G>A	17.37:g.59958458C>T	ENSP00000414237:p.Glu730Lys		Q9ULD3	Missense_Mutation	SNP	NULL	p.E730K	ENST00000444766.3	37	c.2188	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587579	0.86851	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46819	0.86	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.55481	1.735	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.59799	-0.7386	9	.	.	.	-15.7	19.3434	0.94355	0.0:1.0:0.0:0.0	.	730	Q9H0H0	INT2_HUMAN	K	730;729	ENSP00000414237:E730K	.	E	-	1	0	INTS2	57313240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.124000	0.77185	2.812000	0.96745	0.557000	0.71058	GAA	INTS2	-	NULL		0.388	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	C	NM_020748		59958458	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59958458	C	T	59958458	3	4	160	1	0	0	0	0	1	0	0	0	7798	835	29	1	1462	1	INTS2	17	59958458	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	197508	59958458	21236752	1863	30136										
MED13	9969	genome.wustl.edu	37	chr17	60040170	60040171	+	Missense_Mutation	DNP	GC	GC	AA													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctggaccatttctagaaaGcatcgaagtagccccaatgt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:60040170_60040171GC>AA	ENST00000397786.2	-	21	5082_5083	c.5006_5007GC>TT	c.(5005-5007)tGC>tTT	p.C1669F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1669					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAGAAAGCATCGAAGTAG	0.376																																																	0																																										SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5006_5007delinsAA	17.37:g.60040170_60040171delinsAA	ENSP00000380888:p.Cys1669Phe		B2RU05|O60334	Silent|Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.C1669|p.C1669F	ENST00000397786.2	37	c.5007|c.5006	CCDS42366.1	17																																																																																			MED13	-	pfam_Mediator_Med13		0.376	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G|C	NM_005121		60040170|60040171	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	silent|missense	SNP	1.000	A	AA	60040171	GC	AA	60040170	3	1	160	1	0	0	0	0	1	0	0	0	9453	963	34	4	1557	4	MED13	17	60040170	Missense_Mutation	DNP	GC	TCGA-JW-A5VL-01A-11D-A28B-09	81712	60040170	21155040	1864	30137										
MARCH10	162333	genome.wustl.edu	37	chr17	60799927	60799927	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcaggccttgcttacacatCtcacaggtcttcacggcacc	8	15	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:60799927C>T	ENST00000311269.5	-	8	2410	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Silent_p.E712E|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Silent_p.E750E|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Silent_p.E711E|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	712					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTTACACATCTCACAGGTCT	0.443																																																	0													98	79	86					17																	60799927		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2136G>A	17.37:g.60799927C>T			D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E712	ENST00000311269.5	37	c.2136	CCDS11635.1	17																																																																																			MARCH10	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.443	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	C	NM_152598		60799927	-1	no_errors	ENST00000311269	ensembl	human	known	70_37	silent	SNP	1.000	T	T	60799927	C	T	60799927	2	4	160	1	0	0	0	0	0	0	0	1	9322	912	32	1		1	MARCH10	17	60799927	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	759757	60799927	20395283	1865	30138										
TANC2	26115	genome.wustl.edu	37	chr17	61497691	61497691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccctcctctcccccgcatCgggactcagcctacatctcc	5	22	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:61497691C>T	ENST00000424789.2	+	25	4352	c.4348C>T	c.(4348-4350)Cgg>Tgg	p.R1450W	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1460W	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1450					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCCCCCGCATCGGGACTCAGC	0.577																																																	0													74	74	74					17																	61497691		1959	4148	6107	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4348C>T	17.37:g.61497691C>T	ENSP00000387593:p.Arg1450Trp		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1450W	ENST00000424789.2	37	c.4348	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338184	0.60963	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.29	3.22	0.36961	.	0.209794	0.41938	D	0.000794	T	0.55097	0.1899	N	0.14661	0.345	0.33886	D	0.636791	D	0.63880	0.993	P	0.47134	0.539	T	0.69157	-0.5219	10	0.72032	D	0.01	.	14.1582	0.65430	0.3894:0.6106:0.0:0.0	.	1450	Q9HCD6	TANC2_HUMAN	W	1460;1450	ENSP00000374171:R1460W;ENSP00000387593:R1450W	ENSP00000374171:R1460W	R	+	1	2	TANC2	58851423	0.989000	0.36119	0.981000	0.43875	0.455000	0.32408	2.016000	0.40971	0.568000	0.29311	0.561000	0.74099	CGG	TANC2	-	NULL		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	C			61497691	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61497691	C	T	61497691	3	4	160	1	0	0	0	0	1	0	0	0	15575	875	31	1	4446	1	TANC2	17	61497691	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	697764	61497691	19697519	1866	30139										
ACE	1636	genome.wustl.edu	37	chr17	61568382	61568382	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccttcccttcagccccctcGatggacaccacagaggctat	7	18	1	1	rs537418583		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:61568382G>C	ENST00000290866.4	+	18	2733	c.2709G>C	c.(2707-2709)tcG>tcC	p.S903S	ACE_ENST00000577647.1_Silent_p.S329S|ACE_ENST00000421982.2_Silent_p.S149S|ACE_ENST00000413513.3_Silent_p.S329S|ACE_ENST00000428043.1_Silent_p.S903S|ACE_ENST00000290863.6_Silent_p.S329S|ACE_ENST00000490216.2_Silent_p.S329S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	903	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGCCCCCTCGATGGACACCA	0.642																																																	0													104	96	98					17																	61568382		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2709G>C	17.37:g.61568382G>C			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.S903	ENST00000290866.4	37	c.2709	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2		0.642	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	G			61568382	1	no_errors	ENST00000290866	ensembl	human	known	70_37	silent	SNP	0.205	C	C	61568382	G	C	61568382	2	2	160	1	0	0	0	0	0	0	0	1	136	1045	37	1		1	ACE	17	61568382	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	70691	61568382	19626828	1867	30140										
ERN1	2081	genome.wustl.edu	37	chr17	62122227	62122227	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaactgcttaccttatttCtcatggctcggaggagatct	8	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62122227C>G	ENST00000433197.3	-	21	2809	c.2714G>C	c.(2713-2715)aGa>aCa	p.R905T		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TACCTTATTTCTCATGGCTCG	0.418																																																	0													49	54	52					17																	62122227		1892	4122	6014	SO:0001583	missense	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2714G>C	17.37:g.62122227C>G	ENSP00000401445:p.Arg905Thr			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.R905T	ENST00000433197.3	37	c.2714	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473120	0.84640	.	.	ENSG00000178607	ENST00000433197	T	0.62639	0.01	5.22	5.22	0.72569	PUG domain (1);KEN domain, ribonuclease activator (2);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	H	0.96996	3.92	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.91313	0.5076	10	0.87932	D	0	-13.3654	18.7717	0.91894	0.0:1.0:0.0:0.0	.	905	O75460	ERN1_HUMAN	T	905	ENSP00000401445:R905T	ENSP00000401445:R905T	R	-	2	0	ERN1	59475959	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.745000	0.85046	2.440000	0.82611	0.561000	0.74099	AGA	ERN1	-	pfam_KEN_RNase_activator,smart_PUG-dom		0.418	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	C	NM_001433		62122227	-1	no_errors	ENST00000433197	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62122227	C	G	62122227	3	3	160	1	0	0	0	0	1	0	0	0	5249	913	32	1	227	1	ERN1	17	62122227	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	553845	62122227	19072983	1868	30141										
TEX2	55852	genome.wustl.edu	37	chr17	62290576	62290576	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgctttccaagtgcccattCaagctggacagattggagag	11	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62290576C>G	ENST00000583097.1	-	2	1174	c.1002G>C	c.(1000-1002)ttG>ttC	p.L334F	TEX2_ENST00000584379.1_Missense_Mutation_p.L334F|TEX2_ENST00000258991.3_Missense_Mutation_p.L334F			Q8IWB9	TEX2_HUMAN	testis expressed 2	334					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGTGCCCATTCAAGCTGGACA	0.468																																																	0													80	75	76					17																	62290576		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1002G>C	17.37:g.62290576C>G	ENSP00000462665:p.Leu334Phe		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.L334F	ENST00000583097.1	37	c.1002		17	.	.	.	.	.	.	.	.	.	.	C	6.664	0.491132	0.12702	.	.	ENSG00000136478	ENST00000258991	T	0.57907	0.37	6.03	4.03	0.46877	.	0.243846	0.34879	N	0.003617	T	0.60650	0.2285	L	0.54323	1.7	0.48830	D	0.999713	D;D	0.69078	0.997;0.995	P;P	0.62382	0.901;0.798	T	0.61922	-0.6963	10	0.56958	D	0.05	-5.3198	7.8916	0.29682	0.0:0.7291:0.1365:0.1345	.	334;334	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	F	334	ENSP00000258991:L334F	ENSP00000258991:L334F	L	-	3	2	TEX2	59644308	0.998000	0.40836	1.000000	0.80357	0.891000	0.51852	0.508000	0.22692	1.541000	0.49316	-0.175000	0.13238	TTG	TEX2	-	NULL		0.468	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	C	NM_018469		62290576	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	0.998	G	G	62290576	C	G	62290576	3	3	160	1	0	0	0	0	1	0	0	0	15811	825	29	1	2446	1	TEX2	17	62290576	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	168349	62290576	18904634	1869	30142										
DDX5	1655	genome.wustl.edu	37	chr17	62496313	62496313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgagtttttgccccaaaatCtcttttaagcaggctagagt	8	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62496313C>G	ENST00000225792.5	-	13	1974	c.1573G>C	c.(1573-1575)Gat>Cat	p.D525H	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.D525H|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.D446H|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	525	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCCCAAAATCTCTTTTAAGC	0.428			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													131	137	135					17																	62496313		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1573G>C	17.37:g.62496313C>G	ENSP00000225792:p.Asp525His		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D525H	ENST00000225792.5	37	c.1573	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	6.794	0.515474	0.12944	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.886082	0.10244	N	0.697972	T	0.49864	0.1582	N	0.14661	0.345	0.53688	D	0.999978	D;D;D	0.55800	0.973;0.958;0.958	P;P;P	0.49561	0.615;0.477;0.477	T	0.52200	-0.8607	9	0.34782	T	0.22	-19.8945	19.6512	0.95812	0.0:1.0:0.0:0.0	.	446;525;525	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	H	525;455;514	.	ENSP00000225792:D514H	D	-	1	0	DDX5	59926775	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.418000	0.66429	2.712000	0.92718	0.591000	0.81541	GAT	DDX5	-	pfam_P68HR		0.428	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62496313	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62496313	C	G	62496313	3	3	160	1	0	0	0	0	1	0	0	0	4372	913	32	1	275	1	DDX5	17	62496313	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	205737	62496313	18698897	1870	30143										
SMURF2	64750	genome.wustl.edu	37	chr17	62542010	62542010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcttcaatggctgttagcaGcttttcatatagcttttcat	6	8	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62542010G>C	ENST00000262435.9	-	19	2390	c.2203C>G	c.(2203-2205)Ctg>Gtg	p.L735V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	735	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GCTGTTAGCAGCTTTTCATAT	0.373																																																	0													182	178	179					17																	62542010		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2203C>G	17.37:g.62542010G>C	ENSP00000262435:p.Leu735Val		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.L735V	ENST00000262435.9	37	c.2203	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828810	0.50845	.	.	ENSG00000108854	ENST00000262435	D	0.82893	-1.66	5.42	4.44	0.53790	HECT (4);	0.000000	0.64402	D	0.000001	D	0.92061	0.7484	M	0.92268	3.29	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	D	0.92885	0.6326	10	0.87932	D	0	.	10.6915	0.45872	0.1469:0.0:0.8531:0.0	.	735	Q9HAU4	SMUF2_HUMAN	V	735	ENSP00000262435:L735V	ENSP00000262435:L735V	L	-	1	2	SMURF2	59972472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.449000	0.44935	2.538000	0.85594	0.561000	0.74099	CTG	SMURF2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	G	NM_022739		62542010	-1	no_errors	ENST00000262435	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62542010	G	C	62542010	3	2	160	1	0	0	0	0	1	0	0	0	14850	962	34	4	47	4	SMURF2	17	62542010	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	45697	62542010	18653200	1871	30144										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62891142	62891142	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaggtctggaagctgagttGaggtctcctccgtggttgga	15	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:62891142G>A	ENST00000584306.1	-	3	2764	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L	RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S745L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	745						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAGCTGAGTTGAGGTCTCCTC	0.517																																																	0													112	166	150					17																	62891142		1876	4297	6173	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2234C>T	17.37:g.62891142G>A	ENSP00000464535:p.Ser745Leu		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S745L	ENST00000584306.1	37	c.2234	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	4.879	0.163319	0.09287	.	.	ENSG00000176809	ENST00000319651	T	0.59083	0.29	1.46	0.354	0.16063	.	.	.	.	.	T	0.43700	0.1259	L	0.38175	1.15	0.09310	N	1	B	0.29341	0.242	B	0.38428	0.273	T	0.38650	-0.9651	9	0.10111	T	0.7	.	4.7012	0.12828	0.0:0.0:0.631:0.369	.	745	O60309	L37A3_HUMAN	L	745	ENSP00000325713:S745L	ENSP00000325713:S745L	S	-	2	0	LRRC37A3	60321604	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.135000	0.15952	0.149000	0.19098	0.162000	0.16502	TCA	LRRC37A3	-	NULL		0.517	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62891142	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.001	A	A	62891142	G	A	62891142	3	1	160	1	0	0	0	0	1	0	0	0	9016	1294	45	1	2718	1	LRRC37A3	17	62891142	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	349132	62891142	18304068	1872	30145										
PRKCA	5578	genome.wustl.edu	37	chr17	64783006	64783006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctccatttgatggtgaagatGaagacgagctatttcagtct	10	7	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:64783006G>A	ENST00000413366.3	+	15	1653	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TGGTGAAGATGAAGACGAGCT	0.428																																																	0													110	96	101					17																	64783006		2203	4300	6503	SO:0001583	missense	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1627G>A	17.37:g.64783006G>A	ENSP00000408695:p.Glu543Lys		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.E543K	ENST00000413366.3	37	c.1627	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.209300	0.95069	.	.	ENSG00000154229	ENST00000413366	T	0.65364	-0.15	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	N	0.11818	0.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74003	-0.3804	10	0.87932	D	0	.	19.7888	0.96450	0.0:0.0:1.0:0.0	.	543	P17252	KPCA_HUMAN	K	543	ENSP00000408695:E543K	ENSP00000408695:E543K	E	+	1	0	PRKCA	62213468	1.000000	0.71417	0.661000	0.29709	0.590000	0.36582	9.371000	0.97162	2.662000	0.90505	0.655000	0.94253	GAA	PRKCA	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.428	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	G			64783006	1	no_errors	ENST00000413366	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64783006	G	A	64783006	3	1	160	1	0	0	0	0	1	0	0	0	12534	1291	45	1	1685	1	PRKCA	17	64783006	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1891864	64783006	16412204	1873	30146										
BPTF	2186	genome.wustl.edu	37	chr17	65850325	65850325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgtgcttttgaaagcagttCtgcgtgaagaagacacttcc	10	8	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:65850325C>G	ENST00000321892.4	+	2	944	c.883C>G	c.(883-885)Ctg>Gtg	p.L295V	BPTF_ENST00000335221.5_Missense_Mutation_p.L295V|BPTF_ENST00000306378.6_Missense_Mutation_p.L295V|BPTF_ENST00000424123.3_Missense_Mutation_p.L156V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	295	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAAGCAGTTCTGCGTGAAGA	0.453																																																	0													176	147	157					17																	65850325		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.883C>G	17.37:g.65850325C>G	ENSP00000315454:p.Leu295Val		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L295V	ENST00000321892.4	37	c.883		17	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003496	0.35320	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.69040	-0.34;-0.37;-0.32	5.82	3.7	0.42460	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.	.	.	.	T	0.75170	0.3813	L	0.61036	1.89	0.58432	D	0.999995	D;D;P	0.76494	0.999;0.998;0.857	D;D;P	0.87578	0.998;0.99;0.826	T	0.73688	-0.3904	9	0.72032	D	0.01	-5.5732	5.6685	0.17709	0.0:0.4117:0.0:0.5883	.	295;295;295	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	V	200;295;295;295;156	ENSP00000307208:L295V;ENSP00000334351:L295V;ENSP00000315454:L295V	ENSP00000307208:L295V	L	+	1	2	BPTF	63280787	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	2.193000	0.42658	0.626000	0.30322	0.655000	0.94253	CTG	BPTF	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily		0.453	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65850325	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65850325	C	G	65850325	3	3	160	1	0	0	0	0	1	0	0	0	1498	912	32	1	889	1	BPTF	17	65850325	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1067319	65850325	15344885	1874	30147										
ABCA8	10351	genome.wustl.edu	37	chr17	66871433	66871433	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagcctgggggaaaagcctCaggatctctgcatggagggg	17	9	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:66871433C>T	ENST00000269080.2	-	35	4616	c.4479G>A	c.(4477-4479)ctG>ctA	p.L1493L	ABCA8_ENST00000430352.2_Silent_p.L1533L|ABCA8_ENST00000586539.1_Silent_p.L1533L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1493					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAAAAGCCTCAGGATCTCTG	0.473																																																	0													92	83	86					17																	66871433		2203	4300	6503	SO:0001819	synonymous_variant	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4479G>A	17.37:g.66871433C>T			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1533	ENST00000269080.2	37	c.4599	CCDS11680.1	17																																																																																			ABCA8	-	NULL		0.473	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	C	NM_007168		66871433	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	silent	SNP	0.860	T	T	66871433	C	T	66871433	2	4	160	1	0	0	0	0	0	0	0	1	38	813	29	1		1	ABCA8	17	66871433	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1021108	66871433	14323777	1875	30148										
ABCA8	10351	genome.wustl.edu	37	chr17	66914283	66914283	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttccatacttggtgtcttGaaaagggatccaatccagca	10	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:66914283G>C	ENST00000269080.2	-	14	1969	c.1832C>G	c.(1831-1833)tCa>tGa	p.S611*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.S651*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.S651*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	611	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGTGTCTTGAAAAGGGATC	0.453																																																	0													170	137	148					17																	66914283		2203	4300	6503	SO:0001587	stop_gained	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1832C>G	17.37:g.66914283G>C	ENSP00000269080:p.Ser611*		A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S651*	ENST00000269080.2	37	c.1952	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.499582	0.98322	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.26	4.26	0.50523	.	0.000000	0.40144	N	0.001169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	.	.	.	X	611;651;590	.	ENSP00000269080:S611X	S	-	2	0	ABCA8	64425878	1.000000	0.71417	0.996000	0.52242	0.447000	0.32167	9.117000	0.94347	2.369000	0.80426	0.643000	0.83706	TCA	ABCA8	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.453	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	G	NM_007168		66914283	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	66914283	G	C	66914283	4	2	160	1	0	0	0	0	0	1	0	0	38	1294	45	1	3013	1	ABCA8	17	66914283	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	42850	66914283	14280927	1876	30149										
ABCA9	10350	genome.wustl.edu	37	chr17	67014661	67014661	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgggtaacttttctgatatGactcgtagaatagatgttcc	9	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:67014661G>C	ENST00000340001.4	-	20	2871	c.2660C>G	c.(2659-2661)tCa>tGa	p.S887*	ABCA9_ENST00000370732.2_Nonsense_Mutation_p.S887*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.S887*|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	887					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTCTGATATGACTCGTAGAA	0.368																																																	0													224	230	228					17																	67014661		2203	4300	6503	SO:0001587	stop_gained	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2660C>G	17.37:g.67014661G>C	ENSP00000342216:p.Ser887*		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S887*	ENST00000340001.4	37	c.2660	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.317316	0.97467	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	4.97	2.61	0.31194	.	1.225050	0.06465	U	0.730103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.8237	0.29303	0.8201:0.0:0.1799:0.0	.	.	.	.	X	887;870;887;882	.	ENSP00000342216:S887X	S	-	2	0	ABCA9	64526256	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.548000	0.36201	0.326000	0.23384	-0.290000	0.09829	TCA	ABCA9	-	NULL		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	G	NM_172386		67014661	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	67014661	G	C	67014661	4	2	160	1	0	0	0	0	0	1	0	0	39	1294	45	1	2294	1	ABCA9	17	67014661	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	100378	67014661	14180549	1877	30150										
ABCA10	10349	genome.wustl.edu	37	chr17	67171598	67171598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaggagaaacgcagtttgtGatcaacaacaaaaatatgga	9	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:67171598G>A	ENST00000269081.4	-	24	3735	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	942					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CGCAGTTTGTGATCAACAACA	0.368																																																	0													115	104	108					17																	67171598		2203	4300	6503	SO:0001819	synonymous_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2826C>T	17.37:g.67171598G>A			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I942	ENST00000269081.4	37	c.2826	CCDS11684.1	17																																																																																			ABCA10	-	NULL		0.368	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	G	NM_080282		67171598	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	silent	SNP	0.001	A	A	67171598	G	A	67171598	2	1	160	1	0	0	0	0	0	0	0	1	29	1280	45	1		1	ABCA10	17	67171598	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	156937	67171598	14023612	1878	30151										
ABCA10	10349	genome.wustl.edu	37	chr17	67186575	67186575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcactgaaacagcataattCcttatgccctggtcagaaca	7	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:67186575C>T	ENST00000269081.4	-	19	2964	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	685					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGCATAATTCCTTATGCCCT	0.333																																																	0													99	94	96					17																	67186575		2203	4300	6503	SO:0001819	synonymous_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2055G>A	17.37:g.67186575C>T			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R685	ENST00000269081.4	37	c.2055	CCDS11684.1	17																																																																																			ABCA10	-	NULL		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67186575	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	silent	SNP	0.007	T	T	67186575	C	T	67186575	2	4	160	1	0	0	0	0	0	0	0	1	29	854	30	1		1	ABCA10	17	67186575	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	14977	67186575	14008635	1879	30152										
RAB37	326624	genome.wustl.edu	37	chr17	72741031	72741031	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcggatatgagcagcgaaaGagtgatccgttccgaagacg	15	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:72741031G>C	ENST00000392613.5	+	7	508	c.452G>C	c.(451-453)aGa>aCa	p.R151T	RAB37_ENST00000392615.5_Missense_Mutation_p.R119T|RAB37_ENST00000392610.1_Missense_Mutation_p.R151T|RAB37_ENST00000340415.3_Missense_Mutation_p.R144T|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392612.3_Missense_Mutation_p.R114T|RAB37_ENST00000528438.1_Missense_Mutation_p.R124T|RAB37_ENST00000392614.4_Missense_Mutation_p.R156T|RAB37_ENST00000402449.4_Missense_Mutation_p.R144T	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	151					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGCAGCGAAAGAGTGATCCGT	0.612											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													110	92	98					17																	72741031		2203	4300	6503	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.452G>C	17.37:g.72741031G>C	ENSP00000376389:p.Arg151Thr	1139	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R156T	ENST00000392613.5	37	c.467	CCDS32722.1	17	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251641	0.80135	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.098289	0.64402	D	0.000003	D	0.90553	0.7039	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.99;0.997;0.997;0.998;0.992	D	0.91764	0.5422	10	0.87932	D	0	.	16.3088	0.82862	0.0:0.0:1.0:0.0	.	114;119;156;144;151;144	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	T	144;144;144;124;119;156;151;114;151	ENSP00000341354:R144T;ENSP00000383934:R144T;ENSP00000432086:R124T;ENSP00000376391:R119T;ENSP00000376390:R156T;ENSP00000376389:R151T;ENSP00000376388:R114T;ENSP00000376387:R151T	ENSP00000341354:R144T	R	+	2	0	RAB37	70252626	1.000000	0.71417	0.963000	0.40424	0.661000	0.39034	5.608000	0.67654	2.654000	0.90174	0.561000	0.74099	AGA	RAB37	-	pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.612	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB37	HGNC	protein_coding	OTTHUMT00000258872.2	G	NM_175738		72741031	1	no_errors	ENST00000392614	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72741031	G	C	72741031	3	2	160	1	0	0	0	0	1	0	0	0	12957	942	33	1	781	1	RAB37	17	72741031	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5554456	72741031	8454179	1880	30153										
CDR2L	30850	genome.wustl.edu	37	chr17	72995616	72995616	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagacttgcacctagctgcgGagctggggaagactctgctg	14	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:72995616G>C	ENST00000337231.5	+	2	509	c.97G>C	c.(97-99)Gag>Cag	p.E33Q		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	33												all_lung(278;0.226)					CCTAGCTGCGGAGCTGGGGAA	0.552																																																	0													71	55	61					17																	72995616		2195	4290	6485	SO:0001583	missense	30850				CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"paraneoplastic antigen"						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.97G>C	17.37:g.72995616G>C	ENSP00000336587:p.Glu33Gln		B4DFA7|Q15175	Missense_Mutation	SNP	NULL	p.E33Q	ENST00000337231.5	37	c.97	CCDS11710.2	17	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910848	0.72983	.	.	ENSG00000109089	ENST00000337231	T	0.60672	0.17	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84221	0.0461	10	0.72032	D	0.01	-30.5005	19.4201	0.94719	0.0:0.0:1.0:0.0	.	33	Q86X02	CDR2L_HUMAN	Q	33	ENSP00000336587:E33Q	ENSP00000336587:E33Q	E	+	1	0	CDR2L	70507211	1.000000	0.71417	0.954000	0.39281	0.111000	0.19643	5.538000	0.67193	2.667000	0.90743	0.655000	0.94253	GAG	CDR2L	-	NULL		0.552	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2L	HGNC	protein_coding	OTTHUMT00000318080.1	G	NM_014603		72995616	1	no_errors	ENST00000337231	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72995616	G	C	72995616	3	2	160	1	0	0	0	0	1	0	0	0	3178	1175	41	1	103	1	CDR2L	17	72995616	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	254585	72995616	8199594	1881	30154										
SLC16A5	9121	genome.wustl.edu	37	chr17	73101990	73101990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacaggtgccagtcttcccgCcagccacgtccagctggcgt	11	16	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73101990C>T	ENST00000450736.2	+	6	1795	c.1380C>T	c.(1378-1380)cgC>cgT	p.R460R	SLC16A5_ENST00000580123.1_Silent_p.R460R|SLC16A5_ENST00000329783.4_Silent_p.R460R			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	460					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGTCTTCCCGCCAGCCACGTC	0.522											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	30	29					17																	73101990		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1380C>T	17.37:g.73101990C>T		1142	B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.R460	ENST00000450736.2	37	c.1380	CCDS11713.1	17																																																																																			SLC16A5	-	NULL		0.522	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73101990	1	no_errors	ENST00000329783	ensembl	human	known	70_37	silent	SNP	0.006	T	T	73101990	C	T	73101990	2	4	160	1	0	0	0	0	0	0	0	1	14441	726	26	4		4	SLC16A5	17	73101990	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	106374	73101990	8093220	1882	30155										
GALK1	2584	genome.wustl.edu	37	chr17	73759142	73759142	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctgtcccataagtgagatGaactggtccatgatgccaca	9	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73759142G>A	ENST00000588479.1	-	4	1138	c.564C>T	c.(562-564)ttC>ttT	p.F188F	GALK1_ENST00000225614.2_Silent_p.F188F|GALK1_ENST00000437911.1_Silent_p.F218F			P51570	GALK1_HUMAN	galactokinase 1	188					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAAGTGAGATGAACTGGTCCA	0.632																																																	0													66	57	60					17																	73759142		2203	4300	6503	SO:0001819	synonymous_variant	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.564C>T	17.37:g.73759142G>A			B2RC07|B4E1G6	Silent	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.F218	ENST00000588479.1	37	c.654	CCDS11728.1	17																																																																																			GALK1	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Galactokinase		0.632	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73759142	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73759142	G	A	73759142	2	1	160	1	0	0	0	0	0	0	0	1	6222	1281	45	1		1	GALK1	17	73759142	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	657152	73759142	7436068	1883	30156										
GALK1	2584	genome.wustl.edu	37	chr17	73760097	73760097	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggggctcatcggcaccctcaGaggtggtgaggagagacacc	16	11	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73760097G>A	ENST00000588479.1	-	2	810	c.236C>T	c.(235-237)tCt>tTt	p.S79F	GALK1_ENST00000225614.2_Missense_Mutation_p.S79F|GALK1_ENST00000437911.1_Missense_Mutation_p.S109F			P51570	GALK1_HUMAN	galactokinase 1	79					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCACCCTCAGAGGTGGTGAG	0.652																																																	0													25	24	24					17																	73760097		2202	4300	6502	SO:0001583	missense	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.236C>T	17.37:g.73760097G>A	ENSP00000465930:p.Ser79Phe		B2RC07|B4E1G6	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.S109F	ENST00000588479.1	37	c.326	CCDS11728.1	17	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108209	0.37242	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.84223	-1.82;-1.82	4.77	4.77	0.60923	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.386121	0.28488	N	0.015165	D	0.90607	0.7055	L	0.56769	1.78	0.19575	N	0.999962	D;B	0.89917	1.0;0.028	D;B	0.68765	0.96;0.049	D	0.84525	0.0630	10	0.54805	T	0.06	-6.0452	18.1773	0.89766	0.0:0.0:1.0:0.0	.	79;79	B4E1A8;P51570	.;GALK1_HUMAN	F	79;109;182	ENSP00000225614:S79F;ENSP00000406305:S109F	ENSP00000225614:S79F	S	-	2	0	GALK1	71271692	0.223000	0.23663	0.908000	0.35775	0.829000	0.46940	2.733000	0.47360	2.369000	0.80426	0.655000	0.94253	TCT	GALK1	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase		0.652	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73760097	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	missense	SNP	0.098	A	A	73760097	G	A	73760097	3	1	160	1	0	0	0	0	1	0	0	0	6222	942	33	1	970	1	GALK1	17	73760097	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	955	73760097	7435113	1884	30157										
UNC13D	201294	genome.wustl.edu	37	chr17	73824970	73824970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgcagcggcaggaaggcctCgccttccaggtcgtcggccc	14	16	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73824970C>T	ENST00000207549.4	-	31	3428	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	UNC13D_ENST00000412096.2_Missense_Mutation_p.E1017K	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1017	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAAGGCCTCGCCTTCCAGG	0.706									Familial Hemophagocytic Lymphohistiocytosis																																								0													15	16	16					17																	73824970		2180	4265	6445	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.3049G>A	17.37:g.73824970C>T	ENSP00000207549:p.Glu1017Lys		B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1017K	ENST00000207549.4	37	c.3049	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.437621	0.96168	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.70045	-0.45;-0.45	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.063081	0.64402	D	0.000007	T	0.78761	0.4334	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74365	-0.3689	10	0.33141	T	0.24	-3.4998	19.9397	0.97154	0.0:1.0:0.0:0.0	.	1017	Q70J99	UN13D_HUMAN	K	1017	ENSP00000207549:E1017K;ENSP00000388093:E1017K	ENSP00000207549:E1017K	E	-	1	0	UNC13D	71336565	1.000000	0.71417	0.998000	0.56505	0.448000	0.32197	7.389000	0.79806	2.789000	0.95967	0.655000	0.94253	GAG	UNC13D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.706	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	C	XM_113950		73824970	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73824970	C	T	73824970	3	4	160	1	0	0	0	0	1	0	0	0	17018	893	31	1	231	1	UNC13D	17	73824970	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	64873	73824970	7370240	1885	30158										
ACOX1	51	genome.wustl.edu	37	chr17	73945634	73945634	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagctacctccttgctttttCtgtgaatcacttctttttga	5	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:73945634C>T	ENST00000301608.4	-	11	1586	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	ACOX1_ENST00000537812.1_Missense_Mutation_p.R471K|ACOX1_ENST00000293217.5_Missense_Mutation_p.R509K	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	509					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CTTGCTTTTTCTGTGAATCAC	0.428																																																	0													148	138	141					17																	73945634		2203	4300	6503	SO:0001583	missense	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1526G>A	17.37:g.73945634C>T	ENSP00000301608:p.Arg509Lys		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.R509K	ENST00000301608.4	37	c.1526	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403959	0.83230	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.39997	1.05;1.05;1.05	5.3	5.3	0.74995	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.207163	0.48767	D	0.000169	T	0.43010	0.1228	L	0.49699	1.58	0.46376	D	0.999018	B;B;B;B	0.21071	0.03;0.051;0.003;0.0	B;B;B;B	0.18561	0.022;0.022;0.006;0.003	T	0.34700	-0.9818	10	0.66056	D	0.02	-20.3533	19.3773	0.94517	0.0:1.0:0.0:0.0	.	441;471;509;509	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	K	509;509;471;509;441	ENSP00000301608:R509K;ENSP00000293217:R509K;ENSP00000441257:R471K	ENSP00000293217:R509K	R	-	2	0	ACOX1	71457229	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.317000	0.65822	2.652000	0.90054	0.655000	0.94253	AGA	ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.428	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	C			73945634	-1	no_errors	ENST00000293217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73945634	C	T	73945634	3	4	160	1	0	0	0	0	1	0	0	0	158	913	32	1	472	1	ACOX1	17	73945634	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	120664	73945634	7249576	1886	30159										
SPHK1	8877	genome.wustl.edu	37	chr17	74381246	74381246	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccctccccctggcagccccGaggggtgaggagctagtccg	14	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74381246G>A	ENST00000545180.1	+	4	615				SPHK1_ENST00000590959.1_Intron|SPHK1_ENST00000323374.4_Silent_p.P20P|SPHK1_ENST00000392496.3_5'Flank|SPHK1_ENST00000592299.1_Intron			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1						'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	TGGCAGCCCCGAGGGGTGAGG	0.662																																					GBM(90;966 1307 27369 33775 44498)												0													25	21	22					17																	74381246		2191	4290	6481	SO:0001627	intron_variant	8877			BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.-194-286G>A	17.37:g.74381246G>A			Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.P20	ENST00000545180.1	37	c.60	CCDS45785.1	17																																																																																			SPHK1	-	NULL		0.662	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPHK1	HGNC	protein_coding	OTTHUMT00000450113.1	G	NM_182965, NM_021972		74381246	1	no_errors	ENST00000323374	ensembl	human	known	70_37	silent	SNP	0.000	A	A	74381246	G	A	74381246	1	1	160	0	1	0	0	0	0	0	0	0	15076	1045	37	1		1	SPHK1	17	74381246	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	435612	74381246	6813964	1887	30160										
UBE2O	63893	genome.wustl.edu	37	chr17	74392782	74392782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgctcgtcctccaccagccCattgtccgtctcccagctgt	8	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74392782C>T	ENST00000319380.7	-	14	2300	c.2236G>A	c.(2236-2238)Ggg>Agg	p.G746R	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	746					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCCACCAGCCCATTGTCCGTC	0.592																																																	0													114	104	107					17																	74392782		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2236G>A	17.37:g.74392782C>T	ENSP00000323687:p.Gly746Arg		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G746R	ENST00000319380.7	37	c.2236	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718247	0.89205	.	.	ENSG00000175931	ENST00000319380	T	0.73575	-0.76	4.94	4.94	0.65067	.	0.062472	0.64402	D	0.000005	T	0.76800	0.4038	L	0.40543	1.245	0.58432	D	0.999998	D	0.58268	0.982	P	0.55112	0.769	T	0.73795	-0.3870	10	0.25106	T	0.35	-32.7179	18.1709	0.89745	0.0:1.0:0.0:0.0	.	746	Q9C0C9	UBE2O_HUMAN	R	746	ENSP00000323687:G746R	ENSP00000323687:G746R	G	-	1	0	UBE2O	71904377	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	7.786000	0.85741	2.283000	0.76528	0.462000	0.41574	GGG	UBE2O	-	NULL		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	C	NM_022066		74392782	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74392782	C	T	74392782	3	4	160	1	0	0	0	0	1	0	0	0	16899	594	21	4	1662	4	UBE2O	17	74392782	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11536	74392782	6802428	1888	30161										
SFRS2	6427	genome.wustl.edu	37	chr17	74732516	74732516	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacctggaacgactccgactCcgggatcggctgcggcgacg	15	14	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74732516C>G	ENST00000392485.2	-	2	565	c.393G>C	c.(391-393)cgG>cgC	p.R131R	MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.R131R|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Silent_p.R119R|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	131	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GACTCCGACTCCGGGATCGGC	0.697			Mis		"MDS, CLL"																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													38	37	37					17																	74732516		2203	4300	6503	SO:0001819	synonymous_variant	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.393G>C	17.37:g.74732516C>G			B3KWD5|B4DN89|H0YG49	Silent	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R131	ENST00000392485.2	37	c.393	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878668	0.33162	.	.	ENSG00000161547	ENST00000452355	.	.	.	4.65	-2.11	0.07187	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48603	-0.9021	5	0.37606	T	0.19	.	4.9741	0.14131	0.0:0.3422:0.2766:0.3812	.	.	.	.	A	81	.	ENSP00000391278:G81A	G	-	2	0	SRSF2	72244111	0.062000	0.20869	0.602000	0.28890	0.848000	0.48234	-0.914000	0.04038	0.036000	0.15547	0.563000	0.77884	GGA	SRSF2	-	NULL		0.697	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	C	NM_003016		74732516	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	silent	SNP	0.991	G	G	74732516	C	G	74732516	2	3	160	1	0	0	0	0	0	0	0	1	14205	842	30	1		1	SFRS2	17	74732516	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	339734	74732516	6462694	1889	30162										
SFRS2	6427	genome.wustl.edu	37	chr17	74732932	74732932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgtacctgcggggtggcggtCcccggcggctgtggtgtgag	20	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:74732932C>T	ENST00000392485.2	-	1	483	c.311G>A	c.(310-312)gGa>gAa	p.G104E	MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Missense_Mutation_p.G104E|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.G104E|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	104					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGTGGCGGTCCCCGGCGGCT	0.771			Mis		"MDS, CLL"																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													9	11	11					17																	74732932		1931	3929	5860	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.311G>A	17.37:g.74732932C>T	ENSP00000376276:p.Gly104Glu		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G104E	ENST00000392485.2	37	c.311	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011476	0.35511	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156	T	0.75589	-0.95	4.55	3.54	0.40534	.	0.063961	0.64402	D	0.000009	T	0.70570	0.3239	M	0.72894	2.215	0.80722	D	1	B;P	0.41978	0.345;0.767	B;B	0.41036	0.177;0.346	T	0.68198	-0.5472	10	0.07813	T	0.8	.	13.8901	0.63733	0.0:0.8456:0.1544:0.0	.	104;104	B4DN89;Q01130	.;SRSF2_HUMAN	E	104;131;92	ENSP00000376276:G104E	ENSP00000350877:G92E	G	-	2	0	SRSF2	72244527	0.981000	0.34729	0.897000	0.35233	0.410000	0.31052	4.885000	0.63142	0.851000	0.35264	0.557000	0.71058	GGA	SRSF2	-	NULL		0.771	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	C	NM_003016		74732932	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	missense	SNP	0.987	T	T	74732932	C	T	74732932	3	4	160	1	0	0	0	0	1	0	0	0	14205	855	30	1	362	1	SFRS2	17	74732932	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	416	74732932	6462278	1890	30163										
DNAH17	8632	genome.wustl.edu	37	chr17	76570852	76570852	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggctgatgtcgccgtaaagGagccgggccctgtagttgtc	16	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:76570852G>C	ENST00000585328.1	-	2	412	c.288C>G	c.(286-288)ctC>ctG	p.L96L	DNAH17_ENST00000389840.5_Silent_p.L96L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	96	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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)			CGCCGTAAAGGAGCCGGGCCC	0.607																																																	0													141	150	147					17																	76570852		2067	4203	6270	SO:0001819	synonymous_variant	8632			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.288C>G	17.37:g.76570852G>C			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L96	ENST00000585328.1	37	c.288		17																																																																																			DNAH17	-	NULL		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76570852	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.000	C	C	76570852	G	C	76570852	2	2	160	1	0	0	0	0	0	0	0	1	4611	1161	41	1		1	DNAH17	17	76570852	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1837920	76570852	4624358	1891	30164										
LGALS3BP	3959	genome.wustl.edu	37	chr17	76968555	76968555	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcggcctgcgtcaaggcctcGaagttccaggccaggaactg	13	13	1	0	rs138118783		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:76968555G>C	ENST00000262776.3	-	6	1169	c.861C>G	c.(859-861)ttC>ttG	p.F287L	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.S203W	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	287	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCAAGGCCTCGAAGTTCCAGG	0.667																																					GBM(89;1105 1755 18102 21513)												0													32	35	34					17																	76968555		2203	4300	6503	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.861C>G	17.37:g.76968555G>C	ENSP00000262776:p.Phe287Leu		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.F287L	ENST00000262776.3	37	c.861	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	G	8.410	0.843959	0.16963	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.75260	-0.92	3.65	0.447	0.16608	BTB/Kelch-associated (2);	0.000000	0.40818	N	0.001004	T	0.58119	0.2100	L	0.35593	1.075	0.80722	D	1	B	0.25743	0.133	B	0.35899	0.213	T	0.26395	-1.0104	10	0.14656	T	0.56	-28.0599	3.567	0.07904	0.2418:0.2131:0.5452:0.0	.	287	Q08380	LG3BP_HUMAN	L	287;275	ENSP00000262776:F287L	ENSP00000262776:F287L	F	-	3	2	LGALS3BP	74480150	0.753000	0.28349	0.923000	0.36655	0.732000	0.41865	0.182000	0.16900	0.141000	0.18875	0.561000	0.74099	TTC	LGALS3BP	-	pfam_BACK,smart_BACK		0.667	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	G	NM_005567		76968555	-1	no_errors	ENST00000262776	ensembl	human	known	70_37	missense	SNP	0.998	C	C	76968555	G	C	76968555	3	2	160	1	0	0	0	0	1	0	0	0	8764	1049	37	1	900	1	LGALS3BP	17	76968555	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	397703	76968555	4226655	1892	30165										
ENPP7	339221	genome.wustl.edu	37	chr17	77708977	77708977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggagagcgaacatcgacacaGtgatggcgtggttcacagag	15	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:77708977G>A	ENST00000328313.5	+	3	756	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCGACACAGTGATGGCGTG	0.602																																																	0													90	69	76					17																	77708977		2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.535G>A	17.37:g.77708977G>A	ENSP00000332656:p.Val179Met			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.V179M	ENST00000328313.5	37	c.535	CCDS11763.1	17	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066712	0.55539	.	.	ENSG00000182156	ENST00000328313	T	0.74002	-0.8	4.84	4.84	0.62591	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.068386	0.56097	D	0.000021	D	0.86502	0.5948	M	0.79614	2.46	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	D	0.88632	0.3170	10	0.87932	D	0	-47.4141	17.9514	0.89055	0.0:0.0:1.0:0.0	.	179	Q6UWV6	ENPP7_HUMAN	M	179	ENSP00000332656:V179M	ENSP00000332656:V179M	V	+	1	0	ENPP7	75323572	1.000000	0.71417	0.988000	0.46212	0.047000	0.14425	6.637000	0.74304	2.237000	0.73441	0.591000	0.81541	GTG	ENPP7	-	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core		0.602	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	G	NM_178543		77708977	1	no_errors	ENST00000328313	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77708977	G	A	77708977	3	1	160	1	0	0	0	0	1	0	0	0	5147	1029	36	4	545	4	ENPP7	17	77708977	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	740422	77708977	3486233	1893	30166										
RPTOR	57521	genome.wustl.edu	37	chr17	78866583	78866583	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcacccccagacttcgttCtgtgagctcctatggaaaca	9	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:78866583C>T	ENST00000306801.3	+	19	2518	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S561F	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	719					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGACTTCGTTCTGTGAGCTCC	0.522																																																	0													127	131	130					17																	78866583		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2156C>T	17.37:g.78866583C>T	ENSP00000307272:p.Ser719Phe		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.S719F	ENST00000306801.3	37	c.2156	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723697	0.48728	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.50001	0.82;0.76	4.66	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.49712	0.1573	N	0.22421	0.69	0.80722	D	1	D;P	0.64830	0.994;0.952	D;P	0.77004	0.989;0.598	T	0.34079	-0.9843	10	0.09590	T	0.72	.	13.9039	0.63821	0.1538:0.8462:0.0:0.0	.	561;719	F5H7J5;Q8N122	.;RPTOR_HUMAN	F	719;561	ENSP00000307272:S719F;ENSP00000442479:S561F	ENSP00000307272:S719F	S	+	2	0	RPTOR	76481178	1.000000	0.71417	0.012000	0.15200	0.127000	0.20565	7.321000	0.79088	0.920000	0.36970	0.655000	0.94253	TCT	RPTOR	-	superfamily_ARM-type_fold		0.522	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	C	NM_020761		78866583	1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	0.992	T	T	78866583	C	T	78866583	3	4	160	1	0	0	0	0	1	0	0	0	13695	913	32	1	2230	1	RPTOR	17	78866583	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1157606	78866583	2328627	1894	30167										
AATK	9625	genome.wustl.edu	37	chr17	79094733	79094733	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggcctcggcctcagcctcGaggtctgagaagtaggcaga	15	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79094733G>A	ENST00000326724.4	-	11	3027	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	AATK_ENST00000417379.1_Silent_p.L898L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1001					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTCAGCCTCGAGGTCTGAGA	0.687																																																	0													18	21	20					17																	79094733		1873	4099	5972	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3003C>T	17.37:g.79094733G>A			O75136|Q6ZN31|Q86X28	Nonsense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R878*	ENST00000326724.4	37	c.2632	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402281|4.402281	0.83230|0.83230	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000374792|ENST00000417379	.|.	.|.	.|.	5.2|5.2	1.65|1.65	0.23941|0.23941	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46678	.|0.1405	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.25537	.|-1.0129	.|4	0.02654|.	T|.	1|.	.|.	4.3068|4.3068	0.10951|0.10951	0.2223:0.4147:0.2853:0.0777|0.2223:0.4147:0.2853:0.0777	.|.	.|.	.|.	.|.	X|L	878|954	.|.	ENSP00000363924:R878X|.	R|S	-|-	1|2	2|0	AATK|AATK	76709328|76709328	0.945000|0.945000	0.32115|0.32115	0.985000|0.985000	0.45067|0.45067	0.061000|0.061000	0.15899|0.15899	0.065000|0.065000	0.14466|0.14466	0.201000|0.201000	0.20466|0.20466	-1.411000|-1.411000	0.01122|0.01122	CGA|TCG	AATK	-	NULL		0.687	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	G	NM_004920		79094733	-1	no_errors	ENST00000374792	ensembl	human	known	70_37	nonsense	SNP	0.992	A	A	79094733	G	A	79094733	2	1	160	1	0	0	0	0	0	0	0	1	26	1045	37	1		1	AATK	17	79094733	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	228150	79094733	2100477	1895	30168										
BAHCC1	57597	genome.wustl.edu	37	chr17	79409042	79409042	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgcttcctcgtgggcaaaGagctgggcagagagaaggcg	16	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79409042G>C	ENST00000307745.7	+	9	667	c.667G>C	c.(667-669)Gag>Cag	p.E223Q																								CGTGGGCAAAGAGCTGGGCAG	0.692																																																	0													19	25	23					17																	79409042		2089	4189	6278	SO:0001583	missense	57597																														ENST00000307745.7:c.667G>C	17.37:g.79409042G>C	ENSP00000303486:p.Glu223Gln			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E223Q	ENST00000307745.7	37	c.667		17	.	.	.	.	.	.	.	.	.	.	g	14.80	2.643369	0.47153	.	.	ENSG00000171282	ENST00000307745	T	0.12465	2.68	2.81	2.81	0.32909	.	.	.	.	.	T	0.15349	0.0370	L	0.44542	1.39	0.23421	N	0.997718	D	0.58268	0.982	P	0.46362	0.514	T	0.10917	-1.0609	9	0.36615	T	0.2	.	11.3941	0.49832	0.0:0.0:1.0:0.0	.	223	Q9P281	BAHC1_HUMAN	Q	223	ENSP00000303486:E223Q	ENSP00000303486:E223Q	E	+	1	0	AC110285.1	77023637	0.990000	0.36364	0.931000	0.37212	0.605000	0.37080	1.050000	0.30404	1.572000	0.49736	0.298000	0.19748	GAG	BAHCC1	-	NULL		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79409042	1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.720	C	C	79409042	G	C	79409042	3	2	160	1	0	0	0	0	1	0	0	0	1297	943	33	1	516	1	BAHCC1	17	79409042	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	314309	79409042	1786168	1896	30169										
BAHCC1	57597	genome.wustl.edu	37	chr17	79423343	79423343	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagaaggcgcagtgtaagaaGagcagctgtcagggcgggct	18	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79423343G>C	ENST00000307745.7	+	20	4590	c.4590G>C	c.(4588-4590)aaG>aaC	p.K1530N																								AGTGTAAGAAGAGCAGCTGTC	0.647																																																	0													11	13	12					17																	79423343		1878	4040	5918	SO:0001583	missense	57597																														ENST00000307745.7:c.4590G>C	17.37:g.79423343G>C	ENSP00000303486:p.Lys1530Asn			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.K1530N	ENST00000307745.7	37	c.4590		17	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993804	0.35131	.	.	ENSG00000171282	ENST00000307745	T	0.26660	1.72	4.69	0.443	0.16587	.	0.289567	0.27567	N	0.018790	T	0.36771	0.0979	M	0.71581	2.175	0.28527	N	0.912778	P;D	0.56746	0.933;0.977	P;P	0.55923	0.462;0.787	T	0.21484	-1.0244	10	0.41790	T	0.15	.	8.5827	0.33640	0.3328:0.0:0.6672:0.0	.	1530;1530	Q9P281;F8WBW8	BAHC1_HUMAN;.	N	1530	ENSP00000303486:K1530N	ENSP00000303486:K1530N	K	+	3	2	AC110285.1	77037938	0.002000	0.14202	0.644000	0.29465	0.071000	0.16799	0.091000	0.15046	0.092000	0.17331	0.462000	0.41574	AAG	BAHCC1	-	NULL		0.647	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79423343	1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.959	C	C	79423343	G	C	79423343	3	2	160	1	0	0	0	0	1	0	0	0	1297	933	33	1	4483	1	BAHCC1	17	79423343	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	14301	79423343	1771867	1897	30170										
PYCR1	5831	genome.wustl.edu	37	chr17	79892976	79892976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcaccacgactggagtgttGgtcatgcagcggatgaccct	13	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:79892976G>A	ENST00000329875.8	-	4	430	c.366C>T	c.(364-366)acC>acT	p.T122T	PYCR1_ENST00000402252.2_Silent_p.T149T|PYCR1_ENST00000403172.4_Silent_p.T122T|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000577756.1_Silent_p.T122T|PYCR1_ENST00000337943.5_Silent_p.T122T	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	122					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CTGGAGTGTTGGTCATGCAGC	0.647																																																	0													41	36	38					17																	79892976		2203	4298	6501	SO:0001819	synonymous_variant	5831				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.366C>T	17.37:g.79892976G>A			A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	pfam_NADP_OxRdtase_F420,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.T122	ENST00000329875.8	37	c.366	CCDS11795.1	17																																																																																			PYCR1	-	pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase		0.647	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	HGNC	protein_coding	OTTHUMT00000441953.1	G			79892976	-1	no_errors	ENST00000329875	ensembl	human	known	70_37	silent	SNP	0.997	A	A	79892976	G	A	79892976	2	1	160	1	0	0	0	0	0	0	0	1	12885	1335	47	4		4	PYCR1	17	79892976	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	469633	79892976	1302234	1898	30171										
CSNK1D	1453	genome.wustl.edu	37	chr17	80206854	80206854	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcatactcactttccgctctCtctccatgccggagacgggc	9	16	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:80206854C>G	ENST00000314028.6	-	8	1443	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000398519.5_Missense_Mutation_p.R365T|CSNK1D_ENST00000392334.2_Missense_Mutation_p.R365T	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	365					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)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TTTCCGCTCTCTCTCCATGCC	0.647																																																	0													39	35	36					17																	80206854		2197	4289	6486	SO:0001583	missense	1453				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1094G>C	17.37:g.80206854C>G	ENSP00000324464:p.Arg365Thr		A2I2P2|Q96KZ6|Q9BTN5	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.R365T	ENST00000314028.6	37	c.1094	CCDS11805.1	17	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426176	0.43020	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T;T	0.56275	0.47;0.47;0.59	5.8	5.8	0.92144	.	0.058843	0.64402	D	0.000003	T	0.55689	0.1936	M	0.61703	1.905	0.44409	D	0.997324	B;B;B	0.28400	0.06;0.21;0.134	B;B;B	0.29942	0.03;0.109;0.103	T	0.54944	-0.8217	10	0.56958	D	0.05	.	19.1064	0.93296	0.0:1.0:0.0:0.0	.	365;365;308	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	T	365;365;308;257	ENSP00000324464:R365T;ENSP00000376146:R365T;ENSP00000381531:R308T	ENSP00000269361:R257T	R	-	2	0	CSNK1D	77800143	0.219000	0.23619	0.998000	0.56505	0.929000	0.56500	3.492000	0.53259	2.775000	0.95449	0.650000	0.86243	AGA	CSNK1D	-	NULL		0.647	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	HGNC	protein_coding	OTTHUMT00000442632.1	C	NM_139062		80206854	-1	no_errors	ENST00000314028	ensembl	human	known	70_37	missense	SNP	0.999	G	G	80206854	C	G	80206854	3	3	160	1	0	0	0	0	1	0	0	0	3957	913	32	1	198	1	CSNK1D	17	80206854	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	313878	80206854	988356	1899	30172										
HEXDC	284004	genome.wustl.edu	37	chr17	80399095	80399095	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttgcccttgtcacacaagtCagcctccatctgcgcagctc	7	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:80399095C>G	ENST00000327949.9	+	10	1127	c.1116C>G	c.(1114-1116)gtC>gtG	p.V372V	HEXDC_ENST00000337014.6_Nonsense_Mutation_p.S402*|HEXDC_ENST00000577944.1_Missense_Mutation_p.Q375E			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	372					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCACACAAGTCAGCCTCCATC	0.667																																																	0													50	54	53					17																	80399095		2027	4192	6219	SO:0001819	synonymous_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1116C>G	17.37:g.80399095C>G			B7UUP6|Q8IYN4|Q8TE81	Nonsense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.S402*	ENST00000327949.9	37	c.1205		17	.	.	.	.	.	.	.	.	.	.	C	39	7.808949	0.98501	.	.	ENSG00000169660	ENST00000337014	.	.	.	5.1	3.02	0.34903	.	0.857477	0.09788	N	0.755813	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	5.8631	0.18760	0.0:0.6461:0.162:0.192	.	.	.	.	X	402	.	ENSP00000337854:S402X	S	+	2	0	HEXDC	77992384	0.994000	0.37717	0.975000	0.42487	0.443000	0.32047	0.245000	0.18142	0.482000	0.27582	0.563000	0.77884	TCA	HEXDC	-	NULL		0.667	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	C	NM_173620		80399095	1	no_errors	ENST00000337014	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	80399095	C	G	80399095	2	3	160	1	0	0	0	0	0	0	0	1	7095	838	29	1		1	HEXDC	17	80399095	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	192241	80399095	796115	1900	30173										
ZNF750	79755	genome.wustl.edu	37	chr17	80789562	80789563	+	Frame_Shift_Ins	INS	-	-	GTAGATGGGG													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagccagcaggtaaggcgaINSgtagatggtggccagcccgt							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr17:80789562_80789563insGTAGATGGGG	ENST00000269394.3	-	2	1601_1602	c.768_769insCCCCATCTAC	c.(766-771)tactcgfs	p.S257fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	257					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTAAGGCGAGTAGATGGTGG	0.609																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.768_769insCCCCATCTAC	17.37:g.80789562_80789563insGTAGATGGGG	ENSP00000269394:p.Ser257fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.S256fs	ENST00000269394.3	37	c.769_768	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.609	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789563	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	0.902:0.927	GTAGATGGGG	GTAGATGGGG	80789563	-	GTAGATGGGG	80789562	7	5	160	1	0	1	1	0	0	0	0	0	18162	304	11	0	1410	0	ZNF750	17	80789562	Frame_Shift_Ins	INS	-	TCGA-JW-A5VL-01A-11D-A28B-09	390467	80789562	405648	1901	30174										
TYMS	7298	genome.wustl.edu	37	chr18	670729	670729	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcctccatgccatgccctCtgccagttctatgtggtgaa	9	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:670729C>G	ENST00000323274.10	+	5	733	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000323224.7_Silent_p.L164L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	198					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.L198L(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GCCATGCCCTCTGCCAGTTCT	0.557																																																	1	Substitution - coding silent(1)	lung(1)											156	132	140					18																	670729		2203	4300	6503	SO:0001819	synonymous_variant	7298			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.594C>G	18.37:g.670729C>G			Q8WYK3|Q8WYK4	Silent	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.L198	ENST00000323274.10	37	c.594	CCDS11821.1	18																																																																																			TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase		0.557	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1	C	NM_001071		670729	1	no_errors	ENST00000323274	ensembl	human	known	70_37	silent	SNP	0.884	G	G	670729	C	G	670729	2	3	160	1	0	0	0	0	0	0	0	1	16843	900	32	1		1	TYMS	18	670729	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09		670729	77406519	1902	30175										
TMEM200C	645369	genome.wustl.edu	37	chr18	5891520	5891520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaggaccgcgtttgcgcaGatgaagaggaagatgccgat	16	7	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:5891520G>A	ENST00000581347.2	-	3	1188	c.543C>T	c.(541-543)atC>atT	p.I181I	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.I181I|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	181						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CGTTTGCGCAGATGAAGAGGA	0.582																																																	0													42	50	47					18																	5891520		2116	4232	6348	SO:0001819	synonymous_variant	645369				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.543C>T	18.37:g.5891520G>A				Silent	SNP	pfam_DUF2371_TMEM200	p.I181	ENST00000581347.2	37	c.543	CCDS45825.1	18																																																																																			TMEM200C	-	pfam_DUF2371_TMEM200		0.582	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	G	NM_001080209		5891520	-1	no_errors	ENST00000383490	ensembl	human	known	70_37	silent	SNP	0.999	A	A	5891520	G	A	5891520	2	1	160	1	0	0	0	0	0	0	0	1	16155	932	33	1		1	TMEM200C	18	5891520	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5220791	5891520	72185728	1903	30176										
PPP4R1	9989	genome.wustl.edu	37	chr18	9557315	9557315	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaaccagatctgcagctgtCaattgatctccaagaataac	8	10	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:9557315C>T	ENST00000400556.3	-	15	2167	c.2094G>A	c.(2092-2094)ttG>ttA	p.L698L	PPP4R1_ENST00000400555.3_Silent_p.L681L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	698					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						CTGCAGCTGTCAATTGATCTC	0.388																																					Melanoma(188;1232 2082 5061 11948 35994)												0													154	149	150					18																	9557315		1852	4093	5945	SO:0001819	synonymous_variant	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2094G>A	18.37:g.9557315C>T			Q99774|Q9UNQ7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L698	ENST00000400556.3	37	c.2094	CCDS42412.1	18																																																																																			PPP4R1	-	superfamily_ARM-type_fold		0.388	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	C	NM_005134		9557315	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9557315	C	T	9557315	2	4	160	1	0	0	0	0	0	0	0	1	12430	825	29	1		1	PPP4R1	18	9557315	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3665795	9557315	68519933	1904	30177										
RAB31	11031	genome.wustl.edu	37	chr18	9845603	9845603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttcccctgaaggatgctaaGgaatacgctgaatccatagg	11	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:9845603G>C	ENST00000578921.1	+	6	646	c.405G>C	c.(403-405)aaG>aaC	p.K135N	RNA5SP449_ENST00000516871.1_RNA	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	134					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						AGGATGCTAAGGAATACGCTG	0.403																																																	0													71	64	66					18																	9845603		1925	4119	6044	SO:0001583	missense	11031			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"RAB, member RAS oncogene"	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.405G>C	18.37:g.9845603G>C	ENSP00000461945:p.Lys135Asn		B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K135N	ENST00000578921.1	37	c.405	CCDS45826.1	18	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707395	0.48412	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	4.95	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	N	0.25890	0.77	0.58432	D	0.99999	B	0.29835	0.258	B	0.40256	0.324	T	0.29761	-1.0001	8	.	.	.	-4.7971	6.4961	0.22144	0.3186:0.0:0.6813:0.0	.	134	Q13636	RAB31_HUMAN	N	135;126	.	.	K	+	3	2	RAB31	9835603	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.240000	0.43088	1.084000	0.41184	-0.145000	0.13849	AAG	RAB31	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.403	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	HGNC	protein_coding	OTTHUMT00000442280.3	G			9845603	1	no_errors	ENST00000306096	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9845603	G	C	9845603	3	2	160	1	0	0	0	0	1	0	0	0	12950	991	35	4	427	4	RAB31	18	9845603	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	288288	9845603	68231645	1905	30178										
APCDD1	147495	genome.wustl.edu	37	chr18	10468599	10468599	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catctccacaatggtgcaagGatcacagtgcagatgccacc	9	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:10468599G>A	ENST00000355285.5	+	2	546	c.192G>A	c.(190-192)agG>agA	p.R64R	APCDD1_ENST00000578882.1_Silent_p.R64R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGGTGCAAGGATCACAGTGC	0.542																																																	0													101	87	92					18																	10468599		2203	4300	6503	SO:0001819	synonymous_variant	147495			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.192G>A	18.37:g.10468599G>A				Silent	SNP	NULL	p.R64	ENST00000355285.5	37	c.192	CCDS11849.1	18																																																																																			APCDD1	-	NULL		0.542	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	G	NM_153000		10468599	1	no_errors	ENST00000355285	ensembl	human	known	70_37	silent	SNP	0.982	A	A	10468599	G	A	10468599	2	1	160	1	0	0	0	0	0	0	0	1	765	1165	41	1		1	APCDD1	18	10468599	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	622996	10468599	67608649	1906	30179										
AFG3L2	10939	genome.wustl.edu	37	chr18	12353040	12353040	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctggttgagtgtgttctCctgctcactctgccctccaa	9	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:12353040C>G	ENST00000269143.3	-	10	1513	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	428					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGTGTGTTCTCCTGCTCACTC	0.483																																																	0													241	186	205					18																	12353040		2203	4300	6503	SO:0001583	missense	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1282G>C	18.37:g.12353040C>G	ENSP00000269143:p.Glu428Gln		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH	p.E428Q	ENST00000269143.3	37	c.1282	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851797	0.91355	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93133	-3.17	5.14	5.14	0.70334	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	L	0.38953	1.18	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	D	0.95491	0.8569	10	0.87932	D	0	-0.5005	18.9525	0.92645	0.0:1.0:0.0:0.0	.	428	Q9Y4W6	AFG32_HUMAN	Q	428;443	ENSP00000269143:E428Q	ENSP00000269143:E428Q	E	-	1	0	AFG3L2	12343040	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.651000	0.83577	2.570000	0.86706	0.650000	0.86243	GAG	AFG3L2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH		0.483	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	C	NM_006796		12353040	-1	no_errors	ENST00000269143	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12353040	C	G	12353040	3	3	160	1	0	0	0	0	1	0	0	0	360	864	30	1	1143	1	AFG3L2	18	12353040	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1884441	12353040	65724208	1907	30180										
CTAGE1	64693	genome.wustl.edu	37	chr18	19996018	19996018	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcctttgtggagggagagctGaatcaggatatgattgtcct	14	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:19996018G>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Nonsense_Mutation_p.S586*			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGGAGAGCTGAATCAGGATA	0.478																																																	0													57	60	59					18																	19996018		2189	4291	6480	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996018G>C	Exception_encountered		B0YIZ3	Nonsense_Mutation	SNP	NULL	p.S586*	ENST00000525417.1	37	c.1757		18	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670590	0.67814	.	.	ENSG00000212710	ENST00000391403	.	.	.	0.614	0.614	0.17603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	X	586	.	.	S	-	2	0	CTAGE1	18250016	0.993000	0.37304	0.013000	0.15412	0.010000	0.07245	0.820000	0.27323	0.581000	0.29539	0.298000	0.19748	TCA	CTAGE1	-	NULL		0.478	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	G	NM_022663, NM_172241		19996018	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	nonsense	SNP	0.012	C	C	19996018	G	C	19996018	1	2	160	0	1	0	0	0	0	0	0	0	3997	1294	45	1		1	CTAGE1	18	19996018	5'Flank	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7642978	19996018	58081230	1908	30181										
RBBP8	5932	genome.wustl.edu	37	chr18	20573147	20573147	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaggaagaaaactgaggaaGaaagtgaacatgaagtaagc	12	3	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:20573147G>C	ENST00000399722.2	+	11	1708	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	RBBP8_ENST00000327155.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E453Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	453					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AACTGAGGAAGAAAGTGAACA	0.403								Homologous recombination																																									0													51	53	53					18																	20573147		2199	4300	6499	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1357G>C	18.37:g.20573147G>C	ENSP00000382628:p.Glu453Gln		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.E453Q	ENST00000399722.2	37	c.1357	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687908	0.48097	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.37058	1.26;1.22;1.26;1.25;1.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000007	T	0.58566	0.2131	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.975	P;D;P	0.63488	0.642;0.915;0.642	T	0.61118	-0.7127	10	0.72032	D	0.01	-15.9481	13.3217	0.60436	0.0753:0.0:0.9247:0.0	.	453;453;453	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Q	453	ENSP00000323050:E453Q;ENSP00000382630:E453Q;ENSP00000382628:E453Q;ENSP00000382627:E453Q;ENSP00000354024:E453Q	ENSP00000323050:E453Q	E	+	1	0	RBBP8	18827145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.554000	0.53720	2.873000	0.98535	0.561000	0.74099	GAA	RBBP8	-	NULL		0.403	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	G	NM_203291		20573147	1	no_errors	ENST00000327155	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20573147	G	C	20573147	3	2	160	1	0	0	0	0	1	0	0	0	13135	943	33	1	1395	1	RBBP8	18	20573147	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	577129	20573147	57504101	1909	30182										
DTNA	1837	genome.wustl.edu	37	chr18	32398254	32398254	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggggacatgccggtggttCtcatagcaaccagcaccaaa	12	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:32398254C>G	ENST00000399113.3	+	7	836	c.836C>G	c.(835-837)tCt>tGt	p.S279C	DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000399121.5_Missense_Mutation_p.S279C|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000269190.7_Missense_Mutation_p.S279C|DTNA_ENST00000283365.9_Missense_Mutation_p.S279C|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000444659.1_Missense_Mutation_p.S279C|DTNA_ENST00000598142.1_Missense_Mutation_p.S279C|DTNA_ENST00000598334.1_Missense_Mutation_p.S279C|DTNA_ENST00000598774.1_Missense_Mutation_p.S279C|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.S279C|DTNA_ENST00000269191.6_Missense_Mutation_p.S279C|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000348997.5_Missense_Mutation_p.S279C|DTNA_ENST00000595022.1_Missense_Mutation_p.S279C|DTNA_ENST00000597599.1_Missense_Mutation_p.S279C|DTNA_ENST00000315456.6_Missense_Mutation_p.S279C|DTNA_ENST00000556414.3_5'Flank			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	279	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCGGTGGTTCTCATAGCAAC	0.502																																																	0													118	95	103					18																	32398254		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.836C>G	18.37:g.32398254C>G	ENSP00000382064:p.Ser279Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.S279C	ENST00000399113.3	37	c.836	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424085	0.83667	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.87	5.87	0.94306	Zinc finger, ZZ-type (3);	0.242422	0.44097	D	0.000492	D	0.95182	0.8438	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;P;D	0.89917	1.0;0.999;0.999;0.991;0.998;0.996;0.997;0.999;0.996;0.998;0.924;0.995	D;D;D;P;D;D;D;D;P;P;B;P	0.85130	0.997;0.971;0.946;0.895;0.917;0.927;0.926;0.971;0.895;0.879;0.391;0.879	D	0.94962	0.8109	10	0.66056	D	0.02	-15.7404	20.2084	0.98285	0.0:1.0:0.0:0.0	.	29;279;279;279;279;279;279;290;279;279;279;279	B7Z3X3;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	C	279	ENSP00000283365:S279C;ENSP00000322519:S279C;ENSP00000269190:S279C;ENSP00000336682:S279C;ENSP00000382072:S279C;ENSP00000405819:S279C;ENSP00000269191:S279C;ENSP00000382064:S279C	ENSP00000269190:S279C	S	+	2	0	DTNA	30652252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.006000	0.70724	2.774000	0.95407	0.650000	0.86243	TCT	DTNA	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ		0.502	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32398254	1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32398254	C	G	32398254	3	3	160	1	0	0	0	0	1	0	0	0	4798	913	32	1	862	1	DTNA	18	32398254	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11825107	32398254	45678994	1910	30183										
ELP2	55250	genome.wustl.edu	37	chr18	33740957	33740957	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcaaagactctgcttgcctCagcttgtaaggtagggaagt	11	8	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:33740957C>T	ENST00000358232.6	+	17	1814	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ELP2_ENST00000351393.6_Missense_Mutation_p.S558L|ELP2_ENST00000350494.6_Missense_Mutation_p.S579L|ELP2_ENST00000423854.2_Missense_Mutation_p.S514L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Missense_Mutation_p.S514L|ELP2_ENST00000442325.2_Missense_Mutation_p.S649L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	584					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGCTTGCCTCAGCTTGTAAG	0.363																																																	0													148	143	144					18																	33740957		2203	4300	6503	SO:0001583	missense	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1751C>T	18.37:g.33740957C>T	ENSP00000350967:p.Ser584Leu		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S584L	ENST00000358232.6	37	c.1751	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741631	0.89573	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.68624	-0.34;1.85;0.01;1.85;-0.19;-0.34	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.88979	2.995	0.80722	D	1	P;P;P;P;D;P	0.54047	0.557;0.557;0.68;0.915;0.964;0.83	P;P;B;B;P;P	0.54210	0.496;0.496;0.41;0.397;0.745;0.532	D	0.84662	0.0707	10	0.72032	D	0.01	-12.4516	17.6284	0.88099	0.0:1.0:0.0:0.0	.	579;649;514;514;558;584	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	L	584;558;649;514;579;514	ENSP00000350967:S584L;ENSP00000257191:S558L;ENSP00000414851:S649L;ENSP00000391202:S514L;ENSP00000316051:S579L;ENSP00000443800:S514L	ENSP00000316051:S579L	S	+	2	0	ELP2	31994955	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.677000	0.61634	2.765000	0.95021	0.655000	0.94253	TCA	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.363	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	C	NM_018255		33740957	1	no_errors	ENST00000358232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33740957	C	T	33740957	3	4	160	1	0	0	0	0	1	0	0	0	5092	838	29	1	1817	1	ELP2	18	33740957	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1342703	33740957	44336291	1911	30184										
SYT4	6860	genome.wustl.edu	37	chr18	40854012	40854012	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactgactctttttccccttCtaaaaagagcttcggggttg	8	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:40854012C>A	ENST00000255224.3	-	2	750	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Nonsense_Mutation_p.E110*	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	128					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTTCCCCTTCTAAAAAGAGC	0.443																																					NSCLC(85;81 1419 2855 22820 35912)												0													81	81	81					18																	40854012		2202	4299	6501	SO:0001587	stop_gained	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.382G>T	18.37:g.40854012C>A	ENSP00000255224:p.Glu128*		B4DEU3|Q9P2K4	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E128*	ENST00000255224.3	37	c.382	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	38	7.134904	0.98088	.	.	ENSG00000132872	ENST00000255224	.	.	.	5.87	5.87	0.94306	.	0.146625	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000255224:E128X	E	-	1	0	SYT4	39108010	1.000000	0.71417	0.960000	0.40013	0.859000	0.49053	6.640000	0.74319	2.941000	0.99782	0.655000	0.94253	GAA	SYT4	-	NULL		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	C	NM_020783		40854012	-1	no_errors	ENST00000255224	ensembl	human	known	70_37	nonsense	SNP	0.986	A	A	40854012	C	A	40854012	4	1	160	1	0	0	0	0	0	1	0	0	15506	922	32	3	907	3	SYT4	18	40854012	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7113055	40854012	37223236	1912	30185										
SETBP1	26040	genome.wustl.edu	37	chr18	42532104	42532104	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttctggcccacgaaagcctCaagaagccaaagcacaagag	9	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:42532104C>G	ENST00000282030.5	+	4	3095	c.2799C>G	c.(2797-2799)ctC>ctG	p.L933L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	933						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACGAAAGCCTCAAGAAGCCAA	0.537									Schinzel-Giedion syndrome																																								0													44	45	45					18																	42532104		2203	4300	6503	SO:0001819	synonymous_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2799C>G	18.37:g.42532104C>G			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.L933	ENST00000282030.5	37	c.2799	CCDS11923.2	18																																																																																			SETBP1	-	NULL		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	C	NM_001130110		42532104	1	no_errors	ENST00000282030	ensembl	human	known	70_37	silent	SNP	1.000	G	G	42532104	C	G	42532104	2	3	160	1	0	0	0	0	0	0	0	1	14159	813	29	1		1	SETBP1	18	42532104	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1678092	42532104	35545144	1913	30186										
KIAA1632	57724	genome.wustl.edu	37	chr18	43535289	43535289	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcttccctctgaggagtttCatacttcttcttttcctaaa	4	12	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:43535289C>T	ENST00000282041.5	-	2	113	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	27					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGAGGAGTTTCATACTTCTTC	0.368																																																	0													49	44	46					18																	43535289		1825	4082	5907	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.79G>A	18.37:g.43535289C>T	ENSP00000282041:p.Glu27Lys		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.E27K	ENST00000282041.5	37	c.79	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871695	0.72065	.	.	ENSG00000152223	ENST00000282041	T	0.16073	2.37	5.9	5.03	0.67393	.	1.438130	0.03790	N	0.262682	T	0.17238	0.0414	N	0.24115	0.695	0.27777	N	0.943296	P;P	0.49559	0.787;0.925	B;B	0.41510	0.359;0.359	T	0.30387	-0.9980	10	0.66056	D	0.02	-6.4974	12.7882	0.57518	0.0:0.9251:0.0:0.0749	.	27;27	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	K	27	ENSP00000282041:E27K	ENSP00000282041:E27K	E	-	1	0	EPG5	41789287	0.999000	0.42202	0.966000	0.40874	0.425000	0.31504	3.231000	0.51294	2.786000	0.95864	0.563000	0.77884	GAA	EPG5	-	NULL		0.368	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	C	NM_020964		43535289	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	missense	SNP	0.977	T	T	43535289	C	T	43535289	3	4	160	1	0	0	0	0	1	0	0	0	8269	835	29	1	7832	1	KIAA1632	18	43535289	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1003185	43535289	34541959	1914	30187										
ACAA2	10449	genome.wustl.edu	37	chr18	47310231	47310231	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtctcttcaggctgtgctctGaatgatgacagcaatacctt	9	10	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:47310231G>A	ENST00000285093.10	-	10	1655	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	ACAA2_ENST00000589432.1_Nonsense_Mutation_p.Q339*|ACAA2_ENST00000587994.1_Nonsense_Mutation_p.Q391*	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	394					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GCTGTGCTCTGAATGATGACA	0.498																																																	0													98	71	80					18																	47310231		2203	4298	6501	SO:0001587	stop_gained	10449			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1180C>T	18.37:g.47310231G>A	ENSP00000285093:p.Gln394*		Q9BUT6	Nonsense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Q394*	ENST00000285093.10	37	c.1180	CCDS11939.1	18	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237316	0.79800	.	.	ENSG00000167315	ENST00000285093	.	.	.	5.88	-2.9	0.05648	.	0.207712	0.48767	D	0.000170	.	.	.	.	.	.	0.34263	D	0.680092	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.6243	25.6743	0.99995	0.0:0.5205:0.4795:0.0	.	.	.	.	X	394	.	ENSP00000285093:Q394X	Q	-	1	0	ACAA2	45564229	0.225000	0.23685	0.017000	0.16124	0.156000	0.22039	0.519000	0.22862	-0.395000	0.07715	-0.175000	0.13238	CAG	ACAA2	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.498	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2	G	NM_006111		47310231	-1	no_errors	ENST00000285093	ensembl	human	known	70_37	nonsense	SNP	0.016	A	A	47310231	G	A	47310231	4	1	160	1	0	0	0	0	0	1	0	0	105	1299	45	1	17	1	ACAA2	18	47310231	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3774942	47310231	30767017	1915	30188										
MYO5B	4645	genome.wustl.edu	37	chr18	47463690	47463690	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagaacggacgctgatcttCgaagatgaccccttcccagg	11	13	1	4	rs533990456		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:47463690C>G	ENST00000285039.7	-	15	2129	c.1830G>C	c.(1828-1830)tcG>tcC	p.S610S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	610	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCTGATCTTCGAAGATGACC	0.532																																																	0													90	90	90					18																	47463690		1974	4168	6142	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1830G>C	18.37:g.47463690C>G			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S610	ENST00000285039.7	37	c.1830	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	C			47463690	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	silent	SNP	0.173	G	G	47463690	C	G	47463690	2	3	160	1	0	0	0	0	0	0	0	1	10102	871	31	1		1	MYO5B	18	47463690	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	153459	47463690	30613558	1916	30189										
CXXC1	30827	genome.wustl.edu	37	chr18	47812538	47812538	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcttgcgccctccaccctCatcccggggctcactgctgt	8	20	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:47812538C>T	ENST00000285106.6	-	4	1027	c.313G>A	c.(313-315)Gag>Aag	p.E105K	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.E105K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E105K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	105					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCCACCCTCATCCCGGGGC	0.647																																																	0													98	106	103					18																	47812538		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.313G>A	18.37:g.47812538C>T	ENSP00000285106:p.Glu105Lys		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E105K	ENST00000285106.6	37	c.313	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172577	0.38315	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.21361	2.01;2.01	4.1	4.1	0.47936	.	0.509628	0.17336	N	0.177928	T	0.11750	0.0286	N	0.19112	0.55	0.39052	D	0.960359	B;B;B;B	0.31548	0.085;0.022;0.328;0.052	B;B;B;B	0.19148	0.01;0.002;0.024;0.008	T	0.18209	-1.0344	10	0.20519	T	0.43	-24.9128	12.2138	0.54394	0.0:1.0:0.0:0.0	.	105;105;105;105	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	K	105	ENSP00000285106:E105K;ENSP00000390475:E105K	ENSP00000285106:E105K	E	-	1	0	CXXC1	46066536	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	2.156000	0.42310	2.033000	0.60031	0.442000	0.29010	GAG	CXXC1	-	NULL		0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593		47812538	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47812538	C	T	47812538	3	4	160	1	0	0	0	0	1	0	0	0	4102	835	29	1	1717	1	CXXC1	18	47812538	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	348848	47812538	30264710	1917	30190										
ST8SIA3	51046	genome.wustl.edu	37	chr18	55024207	55024207	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgaccaagaatagtgttcgGattggacaactgatgcacta	10	7	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:55024207G>C	ENST00000324000.3	+	3	2400	c.366G>C	c.(364-366)cgG>cgC	p.R122R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	122					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATAGTGTTCGGATTGGACAAC	0.333																																																	0													79	81	80					18																	55024207		2203	4300	6503	SO:0001819	synonymous_variant	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.366G>C	18.37:g.55024207G>C			A8K0F2|Q6B085|Q9NS41	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R122	ENST00000324000.3	37	c.366	CCDS32834.1	18																																																																																			ST8SIA3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.333	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	G	NM_015879		55024207	1	no_errors	ENST00000324000	ensembl	human	known	70_37	silent	SNP	1.000	C	C	55024207	G	C	55024207	2	2	160	1	0	0	0	0	0	0	0	1	15263	1161	41	1		1	ST8SIA3	18	55024207	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7211669	55024207	23053041	1918	30191										
KIAA1468	57614	genome.wustl.edu	37	chr18	59928806	59928806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctttctgccttgcagtccttGatcccatctctctttgcatt	5	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:59928806G>C	ENST00000398130.2	+	16	2497	c.2265G>C	c.(2263-2265)ttG>ttC	p.L755F	KIAA1468_ENST00000256858.6_Missense_Mutation_p.L755F	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	755										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGCAGTCCTTGATCCCATCTC	0.423																																																	0													226	164	185					18																	59928806		2203	4300	6503	SO:0001583	missense	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2265G>C	18.37:g.59928806G>C	ENSP00000381198:p.Leu755Phe			Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.L755F	ENST00000398130.2	37	c.2265	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247232	0.59103	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.64997	1.995	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.74674	0.975;0.984;0.967	T	0.74213	-0.3738	8	.	.	.	-7.1406	13.0628	0.59015	0.0735:0.0:0.9265:0.0	.	755;755;399	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	F	755	.	.	L	+	3	2	KIAA1468	58079786	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	2.348000	0.44045	2.676000	0.91093	0.585000	0.79938	TTG	KIAA1468	-	superfamily_ARM-type_fold		0.423	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	G	NM_020854		59928806	1	no_errors	ENST00000256858	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59928806	G	C	59928806	3	2	160	1	0	0	0	0	1	0	0	0	8256	1281	45	1	2327	1	KIAA1468	18	59928806	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4904599	59928806	18148442	1919	30192										
KIAA1468	57614	genome.wustl.edu	37	chr18	59947665	59947665	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccttgttaccttgtccagtGatcctgaattgtgagtttca	8	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:59947665G>A	ENST00000398130.2	+	23	3272	c.3040G>A	c.(3040-3042)Gat>Aat	p.D1014N	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1014										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTTGTCCAGTGATCCTGAATT	0.408																																																	0													113	103	106					18																	59947665		2203	4300	6503	SO:0001583	missense	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3040G>A	18.37:g.59947665G>A	ENSP00000381198:p.Asp1014Asn			Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.D1014N	ENST00000398130.2	37	c.3040	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801242	0.90538	.	.	ENSG00000134444	ENST00000398130	T	0.73789	-0.78	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85851	0.1404	9	.	.	.	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	1014	Q9P260	K1468_HUMAN	N	1014	ENSP00000381198:D1014N	.	D	+	1	0	KIAA1468	58098645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.673000	0.98631	2.835000	0.97688	0.591000	0.81541	GAT	KIAA1468	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.408	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	G	NM_020854		59947665	1	no_errors	ENST00000398130	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59947665	G	A	59947665	3	1	160	1	0	0	0	0	1	0	0	0	8256	1290	45	1	3130	1	KIAA1468	18	59947665	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18859	59947665	18129583	1920	30193										
SERPINB10	5273	genome.wustl.edu	37	chr18	61597293	61597293	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttacaggtaaaatccagaatCtcctgcctgatgactctgtg	8	10	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:61597293C>T	ENST00000238508.3	+	6	564	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	169					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AATCCAGAATCTCCTGCCTGA	0.383																																																	0													79	76	77					18																	61597293		2203	4299	6502	SO:0001583	missense	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.505C>T	18.37:g.61597293C>T	ENSP00000238508:p.Leu169Phe		Q4VAX4|Q4VAX7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L169F	ENST00000238508.3	37	c.505	CCDS11990.1	18	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556898	0.65425	.	.	ENSG00000242550	ENST00000238508	D	0.87491	-2.26	5.71	4.83	0.62350	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.92691	3.335	0.51012	D	0.999906	D	0.69078	0.997	D	0.68039	0.955	D	0.94083	0.7346	10	0.87932	D	0	.	9.3161	0.37934	0.0:0.779:0.1462:0.0748	.	169	P48595	SPB10_HUMAN	F	169	ENSP00000238508:L169F	ENSP00000238508:L169F	L	+	1	0	SERPINB10	59748273	0.835000	0.29415	0.955000	0.39395	0.901000	0.52897	1.126000	0.31344	1.409000	0.46915	0.655000	0.94253	CTC	SERPINB10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.383	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3	C	NM_005024		61597293	1	no_errors	ENST00000238508	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61597293	C	T	61597293	3	4	160	1	0	0	0	0	1	0	0	0	14127	913	32	1	523	1	SERPINB10	18	61597293	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1649628	61597293	16479955	1921	30194										
SERPINB8	5271	genome.wustl.edu	37	chr18	61649015	61649015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaggagttgtcctttgctGaagacactgaagagtgcagg	15	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:61649015G>A	ENST00000397985.2	+	4	623	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	SERPINB8_ENST00000353706.2_Missense_Mutation_p.E123K|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E123K	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	123					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GTCCTTTGCTGAAGACACTGA	0.403																																																	0													192	180	184					18																	61649015		2203	4300	6503	SO:0001583	missense	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.367G>A	18.37:g.61649015G>A	ENSP00000381072:p.Glu123Lys		B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E123K	ENST00000397985.2	37	c.367	CCDS11991.1	18	.	.	.	.	.	.	.	.	.	.	G	3.646	-0.072589	0.07228	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.21	-10.4	0.00318	Serpin domain (3);	1.013200	0.07871	N	0.967944	T	0.57095	0.2030	N	0.04820	-0.15	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.48103	-0.9064	9	.	.	.	.	9.2208	0.37375	0.6874:0.2219:0.0907:0.0	.	123;123	P50452;Q8N178	SPB8_HUMAN;.	K	123	ENSP00000381072:E123K;ENSP00000331368:E123K;ENSP00000381075:E123K;ENSP00000414580:E123K;ENSP00000393456:E123K	.	E	+	1	0	SERPINB8	59799995	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.070000	0.01380	-2.747000	0.00376	-0.373000	0.07131	GAA	SERPINB8	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.403	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB8	HGNC	protein_coding	OTTHUMT00000134014.1	G	NM_001031848		61649015	1	no_errors	ENST00000353706	ensembl	human	known	70_37	missense	SNP	0.000	A	A	61649015	G	A	61649015	3	1	160	1	0	0	0	0	1	0	0	0	14137	1291	45	1	377	1	SERPINB8	18	61649015	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	51722	61649015	16428233	1922	30195										
DOK6	220164	genome.wustl.edu	37	chr18	67344975	67344975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtggttactttcagagctgGaggccgaggagtggtgcaag	17	6	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:67344975G>C	ENST00000382713.5	+	4	485	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	99	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTCAGAGCTGGAGGCCGAGGA	0.527																																																	0													124	117	120					18																	67344975		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.295G>C	18.37:g.67344975G>C	ENSP00000372160:p.Glu99Gln		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E99Q	ENST00000382713.5	37	c.295	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858537	0.51376	.	.	ENSG00000206052	ENST00000382713	T	0.78246	-1.16	5.34	5.34	0.76211	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.052507	0.85682	D	0.000000	D	0.82508	0.5052	L	0.52573	1.65	0.58432	D	0.99999	P	0.40834	0.73	P	0.53518	0.728	T	0.80670	-0.1279	10	0.44086	T	0.13	-9.718	16.9217	0.86166	0.0:0.0:1.0:0.0	.	99	Q6PKX4	DOK6_HUMAN	Q	99	ENSP00000372160:E99Q	ENSP00000372160:E99Q	E	+	1	0	DOK6	65495955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	GAG	DOK6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.527	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721		67344975	1	no_errors	ENST00000382713	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67344975	G	C	67344975	3	2	160	1	0	0	0	0	1	0	0	0	4711	1175	41	1	309	1	DOK6	18	67344975	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5695960	67344975	10732273	1923	30196										
CD226	10666	genome.wustl.edu	37	chr18	67614101	67614101	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgttattggaagccatcgttGaattcaaaaagtaaaccctc	7	8	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:67614101G>A	ENST00000280200.4	-	3	519	c.251C>T	c.(250-252)tCa>tTa	p.S84L	CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.S84L|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGCCATCGTTGAATTCAAAAA	0.448																																					NSCLC(184;838 2130 8673 21498 50749)												0													111	97	102					18																	67614101		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.251C>T	18.37:g.67614101G>A	ENSP00000280200:p.Ser84Leu		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S84L	ENST00000280200.4	37	c.251	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412311	0.42817	.	.	ENSG00000150637	ENST00000280200	T	0.67865	-0.29	5.51	2.73	0.32206	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.020170	0.07794	N	0.955476	T	0.57007	0.2024	L	0.43701	1.375	0.09310	N	1	P	0.35551	0.509	B	0.34652	0.187	T	0.49725	-0.8909	10	0.59425	D	0.04	.	5.3125	0.15837	0.17:0.0:0.6679:0.1621	.	84	Q15762	CD226_HUMAN	L	84	ENSP00000280200:S84L	ENSP00000280200:S84L	S	-	2	0	CD226	65765081	0.021000	0.18746	0.001000	0.08648	0.062000	0.15995	1.210000	0.32370	0.375000	0.24679	0.655000	0.94253	TCA	CD226	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.448	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	G	NM_006566		67614101	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	missense	SNP	0.010	A	A	67614101	G	A	67614101	3	1	160	1	0	0	0	0	1	0	0	0	2991	1294	45	1	779	1	CD226	18	67614101	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	269126	67614101	10463147	1924	30197										
RTTN	25914	genome.wustl.edu	37	chr18	67864892	67864892	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcctttgaaggaaaatctCagcaggaaaatcttgcatga	10	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:67864892C>T	ENST00000255674.6	-	6	947	c.661G>A	c.(661-663)Gag>Aag	p.E221K	RTTN_ENST00000454359.1_Missense_Mutation_p.E221K|RTTN_ENST00000437017.1_Missense_Mutation_p.E221K	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	221					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGAAAATCTCAGCAGGAAAA	0.343																																																	0													80	77	78					18																	67864892		1806	4082	5888	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.661G>A	18.37:g.67864892C>T	ENSP00000255674:p.Glu221Lys		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E221K	ENST00000255674.6	37	c.661	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193887	0.58017	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.65549	3.5;-0.16;1.42	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.64402	D	0.000004	T	0.78672	0.4320	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.81965	-0.0691	10	0.72032	D	0.01	.	17.4265	0.87527	0.0:1.0:0.0:0.0	.	221;221	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	K	221	ENSP00000255674:E221K;ENSP00000402352:E221K;ENSP00000399520:E221K	ENSP00000255674:E221K	E	-	1	0	RTTN	66015872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	2.094000	0.63399	0.655000	0.94253	GAG	RTTN	-	superfamily_ARM-type_fold		0.343	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	C	NM_173630		67864892	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67864892	C	T	67864892	3	4	160	1	0	0	0	0	1	0	0	0	13767	835	29	1	6195	1	RTTN	18	67864892	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	250791	67864892	10212356	1925	30198										
ZNF236	7776	genome.wustl.edu	37	chr18	74639327	74639327	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctggccccacagaacagctCtctccagacatcggacagca	8	17	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:74639327C>G	ENST00000253159.8	+	24	4460	c.4262C>G	c.(4261-4263)tCt>tGt	p.S1421C	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1423C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1421					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGAACAGCTCTCTCCAGACA	0.582																																																	0													60	63	62					18																	74639327		2046	4188	6234	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4262C>G	18.37:g.74639327C>G	ENSP00000253159:p.Ser1421Cys		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1421C	ENST00000253159.8	37	c.4262	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661885	0.47572	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12039	2.72;2.9	5.81	5.81	0.92471	.	0.692607	0.15075	N	0.281989	T	0.14184	0.0343	L	0.27053	0.805	0.09310	N	1	D	0.54047	0.964	B	0.43916	0.436	T	0.11690	-1.0577	10	0.66056	D	0.02	.	15.6012	0.76626	0.0:0.8631:0.1369:0.0	.	1421	Q9UL36	ZN236_HUMAN	C	1421	ENSP00000253159:S1421C;ENSP00000444524:S1421C	ENSP00000253159:S1421C	S	+	2	0	ZNF236	72768315	0.013000	0.17824	0.000000	0.03702	0.017000	0.09413	1.346000	0.33964	2.769000	0.95229	0.644000	0.83932	TCT	ZNF236	-	NULL		0.582	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74639327	1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	0.000	G	G	74639327	C	G	74639327	3	3	160	1	0	0	0	0	1	0	0	0	17819	913	32	1	4356	1	ZNF236	18	74639327	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6774435	74639327	3437921	1926	30199										
KCNG2	26251	genome.wustl.edu	37	chr18	77659699	77659699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcggccagccccgagccggcCctgcaggaggacagcacgca	15	17	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr18:77659699C>T	ENST00000316249.3	+	2	1284	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	428					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGAGCCGGCCCTGCAGGAGG	0.706																																																	0													21	23	22					18																	77659699		2199	4298	6497	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1284C>T	18.37:g.77659699C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.A428	ENST00000316249.3	37	c.1284	CCDS12019.1	18																																																																																			KCNG2	-	NULL		0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1	C	NM_012283		77659699	1	no_errors	ENST00000316249	ensembl	human	known	70_37	silent	SNP	0.429	T	T	77659699	C	T	77659699	2	4	160	1	0	0	0	0	0	0	0	1	8048	610	22	4		4	KCNG2	18	77659699	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3020372	77659699	417549	1927	30200										
BSG	682	genome.wustl.edu	37	chr19	580678	580678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgaaggctgtgaagtcgtcaGaacacatcaacgagggggag	15	7	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:580678G>C	ENST00000333511.3	+	5	758	c.688G>C	c.(688-690)Gaa>Caa	p.E230Q	BSG_ENST00000346916.4_Missense_Mutation_p.E50Q|BSG_ENST00000353555.4_Missense_Mutation_p.E114Q|BSG_ENST00000545507.2_Missense_Mutation_p.E21Q	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	230	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTCGTCAGAACACATCAA	0.627																																																	0													66	65	65					19																	580678		2202	4300	6502	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.688G>C	19.37:g.580678G>C	ENSP00000333769:p.Glu230Gln		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E230Q	ENST00000333511.3	37	c.688	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732524	0.69189	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.66099	-0.19;-0.19;-0.19	4.09	3.05	0.35203	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.67397	2.05	0.47374	D	0.999406	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.997;0.997	T	0.68311	-0.5442	10	0.15499	T	0.54	-23.8271	10.9451	0.47296	0.0924:0.0:0.9076:0.0	.	114;230;114;230;50	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	Q	50;21;230;114	ENSP00000344707:E50Q;ENSP00000333769:E230Q;ENSP00000343809:E114Q	ENSP00000333769:E230Q	E	+	1	0	BSG	531678	1.000000	0.71417	0.009000	0.14445	0.019000	0.09904	7.543000	0.82106	0.853000	0.35312	0.561000	0.74099	GAA	BSG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	G	NM_001728		580678	1	no_errors	ENST00000333511	ensembl	human	known	70_37	missense	SNP	0.985	C	C	580678	G	C	580678	3	2	160	1	0	0	0	0	1	0	0	0	1532	943	33	1	742	1	BSG	19	580678	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		580678	58548305	1928	30201										
BSG	682	genome.wustl.edu	37	chr19	581522	581522	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccttcctgggcatcgtggctGaggtgctggtgctggtcacc	15	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:581522G>A	ENST00000333511.3	+	6	1070	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	BSG_ENST00000346916.4_Missense_Mutation_p.E154K|BSG_ENST00000353555.4_Missense_Mutation_p.E218K|BSG_ENST00000545507.2_Missense_Mutation_p.E125K	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	334					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTGGCTGAGGTGCTGGT	0.667																																																	0													32	30	31					19																	581522		2188	4293	6481	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.1000G>A	19.37:g.581522G>A	ENSP00000333769:p.Glu334Lys		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E334K	ENST00000333511.3	37	c.1000	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	.	36	5.959553	0.97145	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.66460	2.12;-0.21;2.69	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	D	0.88987	0.3412	10	0.87932	D	0	-48.1982	15.6114	0.76721	0.0:0.0:1.0:0.0	.	218;334;218;334;154	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	K	154;125;334;218	ENSP00000344707:E154K;ENSP00000333769:E334K;ENSP00000343809:E218K	ENSP00000333769:E334K	E	+	1	0	BSG	532522	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.517000	0.98020	2.157000	0.67596	0.563000	0.77884	GAG	BSG	-	NULL		0.667	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	G	NM_001728		581522	1	no_errors	ENST00000333511	ensembl	human	known	70_37	missense	SNP	1.000	A	A	581522	G	A	581522	3	1	160	1	0	0	0	0	1	0	0	0	1532	1291	45	1	1058	1	BSG	19	581522	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	844	581522	58547461	1929	30202										
HCN2	610	genome.wustl.edu	37	chr19	613851	613851	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccccctgcgcgccacgtgcaGagatctgcctgctcacccgg	11	19	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:613851G>C	ENST00000251287.2	+	7	1878		c.e7-1		AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2						cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGTGCAGAGATCTGCCT	0.731																																					Melanoma(145;1175 2427 8056 36306)												0													17	21	20					19																	613851		2156	4225	6381	SO:0001630	splice_region_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1826-1G>C	19.37:g.613851G>C			O60742|O60743|O75267|Q9UBS2	Splice_Site	SNP	-	e7-1	ENST00000251287.2	37	c.1826-1	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	g	19.52	3.843220	0.71488	.	.	ENSG00000099822	ENST00000251287	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1504	0.72692	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCN2	564851	1.000000	0.71417	0.997000	0.53966	0.753000	0.42808	9.058000	0.93896	1.876000	0.54355	0.425000	0.28330	.	HCN2	-	-		0.731	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194	Intron	613851	1	no_errors	ENST00000251287	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	613851	G	C	613851	5	2	160	1	0	0	0	0	0	0	1	0	7017	956	33	1	1851	1	HCN2	19	613851	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32329	613851	58515132	1930	30203										
FSTL3	10272	genome.wustl.edu	37	chr19	681413	681413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgcccactgcgtggtgtgtCgagcggcgccctgccctgtg	16	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:681413C>T	ENST00000166139.4	+	4	618	c.586C>T	c.(586-588)Cga>Tga	p.R196*	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	196	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGTGTCGAGCGGCGCC	0.697			T	CCND1	B-CLL																																			Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													32	26	28					19																	681413		2199	4293	6492	SO:0001587	stop_gained	10272			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"follistatin-related protein"	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.586C>T	19.37:g.681413C>T	ENSP00000166139:p.Arg196*		A8K7E3	Nonsense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.R196*	ENST00000166139.4	37	c.586	CCDS12040.1	19	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678212	0.88542	.	.	ENSG00000070404	ENST00000166139	.	.	.	3.85	0.286	0.15710	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-30.2838	8.2418	0.31665	0.3154:0.5319:0.1527:0.0	.	.	.	.	X	196	.	ENSP00000166139:R196X	R	+	1	2	FSTL3	632413	1.000000	0.71417	0.337000	0.25536	0.665000	0.39181	2.652000	0.46682	-0.017000	0.14103	-0.360000	0.07572	CGA	FSTL3	-	NULL		0.697	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL3	HGNC	protein_coding	OTTHUMT00000452479.1	C	NM_005860		681413	1	no_errors	ENST00000166139	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	681413	C	T	681413	4	4	160	1	0	0	0	0	0	1	0	0	6096	876	31	1	600	1	FSTL3	19	681413	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	67562	681413	58447570	1931	30204										
PALM	5064	genome.wustl.edu	37	chr19	736029	736029	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccgtgcagacaagcgagtCtccaacacgcccctgaggac	10	16	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:736029C>G	ENST00000338448.5	+	7	499	c.453C>G	c.(451-453)gtC>gtG	p.V151V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Silent_p.V151V	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	151					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACAAGCGAGTCTCCAACACGC	0.647																																																	0													141	134	137					19																	736029		2203	4300	6503	SO:0001819	synonymous_variant	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.453C>G	19.37:g.736029C>G			O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	pfam_Paralemmin	p.V151	ENST00000338448.5	37	c.453	CCDS32857.1	19																																																																																			PALM	-	pfam_Paralemmin		0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	C	NM_002579		736029	1	no_errors	ENST00000338448	ensembl	human	known	70_37	silent	SNP	0.046	G	G	736029	C	G	736029	2	3	160	1	0	0	0	0	0	0	0	1	11432	900	32	1		1	PALM	19	736029	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	54616	736029	58392954	1932	30205										
PTBP1	5725	genome.wustl.edu	37	chr19	804855	804855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccaagttcggcacagtgttGaagatcatcaccttcaccaa	7	12	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:804855G>A	ENST00000349038.4	+	7	706	c.633G>A	c.(631-633)ttG>ttA	p.L211L	PTBP1_ENST00000394601.4_Silent_p.L211L|PTBP1_ENST00000356948.6_Silent_p.L211L|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	211	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTGTTGAAGATCATCA	0.642																																																	0													102	91	95					19																	804855		2203	4300	6503	SO:0001819	synonymous_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.633G>A	19.37:g.804855G>A			Q9BUQ0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L211	ENST00000349038.4	37	c.633	CCDS32859.1	19																																																																																			PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.642	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	G			804855	1	no_errors	ENST00000356948	ensembl	human	known	70_37	silent	SNP	1.000	A	A	804855	G	A	804855	2	1	160	1	0	0	0	0	0	0	0	1	12752	1281	45	1		1	PTBP1	19	804855	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	68826	804855	58324128	1933	30206										
LPPR3	79948	genome.wustl.edu	37	chr19	814735	814735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgacagcgtggcgtgctggGacgggaaggtcttcctgtaa	16	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:814735G>C	ENST00000520876.3	-	6	692	c.614C>G	c.(613-615)tCc>tGc	p.S205C	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.S205C	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		205						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GGCGTGCTGGGACGGGAAGGT	0.672																																																	0													44	36	39					19																	814735		2191	4298	6489	SO:0001583	missense	79948																														ENST00000520876.3:c.614C>G	19.37:g.814735G>C	ENSP00000430297:p.Ser205Cys		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S205C	ENST00000520876.3	37	c.614	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519890	0.85495	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876	D;D	0.99005	-5.32;-5.32	4.77	4.77	0.60923	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.92077	3.27	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.972	D	0.98667	1.0686	10	0.54805	T	0.06	-0.1111	14.9274	0.70890	0.0:0.0:1.0:0.0	.	206;205;205	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	C	206;205;205	ENSP00000352962:S205C;ENSP00000430297:S205C	ENSP00000300947:S206C	S	-	2	0	AC006273.1	765735	1.000000	0.71417	0.595000	0.28798	0.869000	0.49853	9.330000	0.96422	2.195000	0.70347	0.555000	0.69702	TCC	LPPR3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.672	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_genename	protein_coding	OTTHUMT00000379096.3	G			814735	-1	no_errors	ENST00000359894	ensembl	human	known	70_37	missense	SNP	0.998	C	C	814735	G	C	814735	3	2	160	1	0	0	0	0	1	0	0	0	8949	1174	41	1	1634	1	LPPR3	19	814735	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	9880	814735	58314248	1934	30207										
LPPR3	79948	genome.wustl.edu	37	chr19	815241	815241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagttgcagccgccggcgttGatgctgccctccgccccggc	13	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:815241G>C	ENST00000520876.3	-	4	426	c.348C>G	c.(346-348)atC>atG	p.I116M	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.I116M	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		116						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CGCCGGCGTTGATGCTGCCCT	0.682																																																	0													16	20	19					19																	815241		2155	4254	6409	SO:0001583	missense	79948																														ENST00000520876.3:c.348C>G	19.37:g.815241G>C	ENSP00000430297:p.Ile116Met		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I116M	ENST00000520876.3	37	c.348	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574349	0.65878	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.51325	0.71;0.71	4.33	4.33	0.51752	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.65165	0.2665	M	0.64997	1.995	0.33945	D	0.643688	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.993;0.972	T	0.76862	-0.2802	10	0.72032	D	0.01	-12.6153	14.3166	0.66454	0.0:0.0:1.0:0.0	.	116;116;116	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	M	116	ENSP00000352962:I116M;ENSP00000430297:I116M	ENSP00000300947:I116M	I	-	3	3	AC006273.1	766241	1.000000	0.71417	0.991000	0.47740	0.851000	0.48451	1.884000	0.39668	1.952000	0.56665	0.462000	0.41574	ATC	LPPR3	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.682	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_genename	protein_coding	OTTHUMT00000379096.3	G			815241	-1	no_errors	ENST00000359894	ensembl	human	known	70_37	missense	SNP	0.998	C	C	815241	G	C	815241	3	2	160	1	0	0	0	0	1	0	0	0	8949	1280	45	1	1908	1	LPPR3	19	815241	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	506	815241	58313742	1935	30208										
ARID3A	1820	genome.wustl.edu	37	chr19	964428	964428	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagccttcaccctgcggaCccagtgagtggcggacggtt	14	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:964428C>G	ENST00000263620.3	+	5	1274	c.947C>G	c.(946-948)aCc>aGc	p.T316S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	316	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGCGGACCCAGTGAGTG	0.657																																					Pancreas(29;54 1022 32760 50921)												0													105	73	84					19																	964428		2200	4300	6500	SO:0001583	missense	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.947C>G	19.37:g.964428C>G	ENSP00000263620:p.Thr316Ser		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T316S	ENST00000263620.3	37	c.947	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462729	0.63513	.	.	ENSG00000116017	ENST00000263620	T	0.61510	0.1	4.4	4.4	0.53042	ARID/BRIGHT DNA-binding domain (5);	0.099623	0.64402	D	0.000002	T	0.66519	0.2797	L	0.45051	1.395	0.80722	D	1	D	0.57571	0.98	D	0.62955	0.909	T	0.70324	-0.4903	10	0.72032	D	0.01	-8.1116	14.4409	0.67318	0.0:1.0:0.0:0.0	.	316	Q99856	ARI3A_HUMAN	S	316	ENSP00000263620:T316S	ENSP00000263620:T316S	T	+	2	0	ARID3A	915428	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	5.708000	0.68377	2.003000	0.58678	0.561000	0.74099	ACC	ARID3A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	C	NM_005224		964428	1	no_errors	ENST00000263620	ensembl	human	known	70_37	missense	SNP	1.000	G	G	964428	C	G	964428	3	3	160	1	0	0	0	0	1	0	0	0	916	507	18	4	961	4	ARID3A	19	964428	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	149187	964428	58164555	1936	30209										
ABCA7	10347	genome.wustl.edu	37	chr19	1042338	1042338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcctcaaccaaccaagcagtCtccactggaaccacccatgc	6	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:1042338C>T	ENST00000263094.6	+	6	671	c.440C>T	c.(439-441)tCt>tTt	p.S147F	ABCA7_ENST00000433129.1_Missense_Mutation_p.S147F|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	147					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAAGCAGTCTCCACTGGAA	0.672																																																	0													77	73	74					19																	1042338		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.440C>T	19.37:g.1042338C>T	ENSP00000263094:p.Ser147Phe		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S147F	ENST00000263094.6	37	c.440	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	C	7.636	0.679942	0.14907	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000433129	D;D;D	0.98649	-2.16;-5.05;-2.16	3.03	-3.43	0.04810	.	.	.	.	.	D	0.92622	0.7656	N	0.08118	0	0.09310	N	1	B;B	0.29508	0.246;0.092	B;B	0.24269	0.052;0.011	D	0.87983	0.2744	9	0.56958	D	0.05	.	3.4854	0.07618	0.1868:0.328:0.0:0.4853	.	147;147	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	F	147	ENSP00000263094:S147F;ENSP00000431473:S147F;ENSP00000414062:S147F	ENSP00000263094:S147F	S	+	2	0	ABCA7	993338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.871000	0.04223	-0.624000	0.05611	0.511000	0.50034	TCT	ABCA7	-	NULL		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	C	NM_019112		1042338	1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1042338	C	T	1042338	3	4	160	1	0	0	0	0	1	0	0	0	37	913	32	1	458	1	ABCA7	19	1042338	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	77910	1042338	58086645	1937	30210										
HMHA1	23526	genome.wustl.edu	37	chr19	1081908	1081908	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caaggagctggtcgagctgtCgcaggcctcgccccacgaca	13	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:1081908C>A	ENST00000313093.2	+	19	2696	c.2465C>A	c.(2464-2466)tCg>tAg	p.S822*	HMHA1_ENST00000543365.1_Nonsense_Mutation_p.S705*|HMHA1_ENST00000539243.2_Nonsense_Mutation_p.S838*|HMHA1_ENST00000586866.1_Nonsense_Mutation_p.S826*|HMHA1_ENST00000590577.1_Nonsense_Mutation_p.S457*|HMHA1_ENST00000590214.1_Nonsense_Mutation_p.S849*|HMHA1_ENST00000536472.1_Nonsense_Mutation_p.S690*	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	822	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGAGCTGTCGCAGGCCTCG	0.657																																																	0													73	54	61					19																	1081908		2203	4300	6503	SO:0001587	stop_gained	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2465C>A	19.37:g.1081908C>A	ENSP00000316772:p.Ser822*		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S822*	ENST00000313093.2	37	c.2465	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	c	41	9.129044	0.99075	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5576	16.7261	0.85422	0.0:1.0:0.0:0.0	.	.	.	.	X	838;822;822;690;816;705	.	ENSP00000316772:S822X	S	+	2	0	HMHA1	1032908	1.000000	0.71417	0.997000	0.53966	0.417000	0.31264	5.600000	0.67599	2.175000	0.68902	0.550000	0.68814	TCG	HMHA1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.657	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	C			1081908	1	no_errors	ENST00000313093	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	1081908	C	A	1081908	4	1	160	1	0	0	0	0	0	1	0	0	7260	893	31	3	2539	3	HMHA1	19	1081908	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	39570	1081908	58047075	1938	30211										
MKNK2	2872	genome.wustl.edu	37	chr19	2042432	2042432	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgcgggccctcaccggagtGagcagctccggggtggagat	17	13	1	2	rs368301670	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2042432G>C	ENST00000591601.1	-	9	779	c.744C>G	c.(742-744)ctC>ctG	p.L248L	MKNK2_ENST00000250896.3_Silent_p.L248L|MKNK2_ENST00000309340.7_Silent_p.L248L|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000541165.1_Silent_p.L117L|MKNK2_ENST00000588014.1_5'UTR|MKNK2_ENST00000591588.1_5'Flank			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGAGTGAGCAGCTCCG	0.697																																																	0													9	10	10					19																	2042432		2171	4272	6443	SO:0001819	synonymous_variant	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.744C>G	19.37:g.2042432G>C			Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L248	ENST00000591601.1	37	c.744	CCDS12080.1	19																																																																																			MKNK2	-	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		0.697	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	G	NM_199054		2042432	-1	no_errors	ENST00000250896	ensembl	human	known	70_37	silent	SNP	0.998	C	C	2042432	G	C	2042432	2	2	160	1	0	0	0	0	0	0	0	1	9628	1277	45	1		1	MKNK2	19	2042432	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	960524	2042432	57086551	1939	30212										
MKNK2	2872	genome.wustl.edu	37	chr19	2042450	2042450	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgagcagctccggggtggaGataggggagcagtccccgtt	18	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2042450G>C	ENST00000591601.1	-	9	761	c.726C>G	c.(724-726)atC>atG	p.I242M	MKNK2_ENST00000250896.3_Missense_Mutation_p.I242M|MKNK2_ENST00000309340.7_Missense_Mutation_p.I242M|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000541165.1_Missense_Mutation_p.I111M|MKNK2_ENST00000588014.1_De_novo_Start_InFrame|MKNK2_ENST00000591588.1_5'Flank			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGTGGAGATAGGGGAGC	0.677																																																	0													14	14	14					19																	2042450		2187	4289	6476	SO:0001583	missense	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.726C>G	19.37:g.2042450G>C	ENSP00000467811:p.Ile242Met		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I242M	ENST00000591601.1	37	c.726	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986790	0.53934	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.65549	-0.16;-0.16;-0.16	3.98	2.93	0.34026	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054171	0.64402	D	0.000001	T	0.67249	0.2873	L	0.37750	1.13	0.58432	D	0.999992	D;P	0.60575	0.988;0.575	D;B	0.69479	0.964;0.312	T	0.68439	-0.5408	10	0.72032	D	0.01	-12.9573	10.7901	0.46428	0.0943:0.0:0.9057:0.0	.	242;242	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	M	242;242;111;182	ENSP00000309485:I242M;ENSP00000250896:I242M;ENSP00000438904:I111M	ENSP00000250896:I242M	I	-	3	3	MKNK2	1993450	0.990000	0.36364	1.000000	0.80357	0.827000	0.46813	0.743000	0.26231	0.887000	0.36136	0.555000	0.69702	ATC	MKNK2	-	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		0.677	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	G	NM_199054		2042450	-1	no_errors	ENST00000250896	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2042450	G	C	2042450	3	2	160	1	0	0	0	0	1	0	0	0	9628	932	33	1	786	1	MKNK2	19	2042450	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18	2042450	57086533	1940	30213										
DOT1L	84444	genome.wustl.edu	37	chr19	2226517	2226517	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgagtttacacagcttcagtGatggtgcttctcttccccac	8	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2226517G>A	ENST00000398665.3	+	27	4033	c.3997G>A	c.(3997-3999)Gat>Aat	p.D1333N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1333					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTTCAGTGATGGTGCTTC	0.706																																																	0													17	22	20					19																	2226517		1904	4044	5948	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3997G>A	19.37:g.2226517G>A	ENSP00000381657:p.Asp1333Asn		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.D1333N	ENST00000398665.3	37	c.3997	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154499	0.78114	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.45276	1.32;0.9	4.4	4.4	0.53042	.	0.000000	0.49916	D	0.000136	T	0.61776	0.2374	M	0.62723	1.935	0.31447	N	0.671186	D;D	0.76494	0.999;0.996	P;D	0.79784	0.886;0.993	T	0.69146	-0.5222	10	0.87932	D	0	-18.058	15.9698	0.80004	0.0:0.0:1.0:0.0	.	1333;1333	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1333;1333;213	ENSP00000381657:D1333N;ENSP00000407411:D213N	ENSP00000221482:D1333N	D	+	1	0	DOT1L	2177517	1.000000	0.71417	0.959000	0.39883	0.520000	0.34377	5.378000	0.66190	2.005000	0.58758	0.462000	0.41574	GAT	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.706	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2226517	1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	0.955	A	A	2226517	G	A	2226517	3	1	160	1	0	0	0	0	1	0	0	0	4719	1290	45	1	4103	1	DOT1L	19	2226517	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	184067	2226517	56902466	1941	30214										
TMPRSS9	360200	genome.wustl.edu	37	chr19	2408436	2408436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagcaccgtgcgggcccagGtggtccagatcgtcaagcac	13	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2408436G>A	ENST00000332578.3	+	7	823	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	275	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGCCCAGGTGGTCCAGAT	0.657																																																	0													95	81	86					19																	2408436		2203	4300	6503	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.823G>A	19.37:g.2408436G>A	ENSP00000330264:p.Val275Met		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.V275M	ENST00000332578.3	37	c.823	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016324	0.35606	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.66995	-0.24	4.67	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.355592	0.19350	U	0.116431	T	0.82033	0.4949	H	0.94734	3.575	0.09310	N	1	D;D	0.76494	0.989;0.999	D;D	0.71414	0.965;0.973	T	0.70923	-0.4740	10	0.72032	D	0.01	.	3.4318	0.07432	0.254:0.2195:0.5265:0.0	.	275;309	Q7Z410;E7EMP4	TMPS9_HUMAN;.	M	309;275	ENSP00000330264:V275M	ENSP00000330264:V275M	V	+	1	0	TMPRSS9	2359436	0.438000	0.25602	0.060000	0.19600	0.225000	0.24961	1.523000	0.35932	0.924000	0.37069	0.491000	0.48974	GTG	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.657	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	G	NM_182973		2408436	1	no_errors	ENST00000332578	ensembl	human	known	70_37	missense	SNP	0.059	A	A	2408436	G	A	2408436	3	1	160	1	0	0	0	0	1	0	0	0	16283	1261	44	4	849	4	TMPRSS9	19	2408436	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	181919	2408436	56720547	1942	30215										
TMPRSS9	360200	genome.wustl.edu	37	chr19	2408502	2408502	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actttgacgtggctgtgctgGagctgaccagccctctgcct	12	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:2408502G>C	ENST00000332578.3	+	7	889	c.889G>C	c.(889-891)Gag>Cag	p.E297Q		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	297	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGTGCTGGAGCTGACCAG	0.662																																																	0													96	82	87					19																	2408502		2203	4300	6503	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.889G>C	19.37:g.2408502G>C	ENSP00000330264:p.Glu297Gln		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.E297Q	ENST00000332578.3	37	c.889	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267699	0.40095	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88431	-2.38	4.67	-6.52	0.01872	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.456016	0.17802	N	0.161516	T	0.75042	0.3796	N	0.04116	-0.275	0.41106	D	0.985707	B;B	0.32302	0.05;0.363	B;B	0.34931	0.192;0.153	T	0.56739	-0.7929	10	0.30078	T	0.28	.	19.7865	0.96442	0.0:0.7076:0.2924:0.0	.	297;331	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Q	331;297	ENSP00000330264:E297Q	ENSP00000330264:E297Q	E	+	1	0	TMPRSS9	2359502	1.000000	0.71417	0.896000	0.35187	0.325000	0.28411	0.894000	0.28350	-0.508000	0.06540	0.491000	0.48974	GAG	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.662	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	G	NM_182973		2408502	1	no_errors	ENST00000332578	ensembl	human	known	70_37	missense	SNP	0.993	C	C	2408502	G	C	2408502	3	2	160	1	0	0	0	0	1	0	0	0	16283	1175	41	1	915	1	TMPRSS9	19	2408502	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	66	2408502	56720481	1943	30216										
NCLN	56926	genome.wustl.edu	37	chr19	3186080	3186080	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acatgctgaaggcgtcttgtCtgccgctcggcttcatcgtc	11	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3186080C>G	ENST00000246117.4	+	1	483	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	NCLN_ENST00000590671.1_Intron	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	18					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCTTGTCTGCCGCTCGG	0.726																																																	0													48	35	39					19																	3186080		2203	4300	6503	SO:0001583	missense	56926			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.52C>G	19.37:g.3186080C>G	ENSP00000246117:p.Leu18Val		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin	p.L18V	ENST00000246117.4	37	c.52	CCDS32869.1	19	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515894	0.44763	.	.	ENSG00000125912	ENST00000246117	T	0.33438	1.41	4.34	4.34	0.51931	.	0.370001	0.28062	N	0.016758	T	0.28067	0.0692	L	0.48642	1.525	0.33765	D	0.622336	B	0.15141	0.012	B	0.15052	0.012	T	0.32613	-0.9900	10	0.34782	T	0.22	-1.6961	13.5949	0.61984	0.0:1.0:0.0:0.0	.	18	Q969V3	NCLN_HUMAN	V	18	ENSP00000246117:L18V	ENSP00000246117:L18V	L	+	1	2	NCLN	3137080	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.220000	0.58567	1.974000	0.57490	0.561000	0.74099	CTG	NCLN	-	pirsf_Nicalin		0.726	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCLN	HGNC	protein_coding	OTTHUMT00000452545.1	C	NM_020170		3186080	1	no_errors	ENST00000246117	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3186080	C	G	3186080	3	3	160	1	0	0	0	0	1	0	0	0	10251	912	32	1	54	1	NCLN	19	3186080	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	777578	3186080	55942903	1944	30217										
FZR1	51343	genome.wustl.edu	37	chr19	3532042	3532042	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggcaggaggtgtgcgggctCaagtggtccacagaccacca	15	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3532042C>G	ENST00000395095.3	+	9	957	c.957C>G	c.(955-957)ctC>ctG	p.L319L	FZR1_ENST00000441788.2_Silent_p.L319L|FZR1_ENST00000313639.8_Silent_p.L230L	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	319					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCGGGCTCAAGTGGTCCA	0.706																																																	0													8	9	9					19																	3532042		2090	4147	6237	SO:0001819	synonymous_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.957C>G	19.37:g.3532042C>G			O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L319	ENST00000395095.3	37	c.957	CCDS45916.1	19																																																																																			FZR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.706	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	C	NM_016263		3532042	1	no_errors	ENST00000395095	ensembl	human	known	70_37	silent	SNP	0.966	G	G	3532042	C	G	3532042	2	3	160	1	0	0	0	0	0	0	0	1	6156	813	29	1		1	FZR1	19	3532042	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	345962	3532042	55596941	1945	30218										
DAPK3	1613	genome.wustl.edu	37	chr19	3964264	3964264	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaactccggggtgccgaaGatgttcttgaactcgttccc	10	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3964264G>C	ENST00000545797.2	-	4	774	c.531C>G	c.(529-531)atC>atG	p.I177M	DAPK3_ENST00000301264.3_Missense_Mutation_p.I177M|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	177	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCCGAAGATGTTCTTGA	0.632																																																	0													153	106	122					19																	3964264		2203	4300	6503	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.531C>G	19.37:g.3964264G>C	ENSP00000442973:p.Ile177Met		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.I177M	ENST00000545797.2	37	c.531	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602994	0.46423	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.40225	1.04;1.04	5.48	2.16	0.27623	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	N	0.21142	0.635	0.45378	D	0.998365	B	0.30741	0.293	B	0.42319	0.383	T	0.10405	-1.0631	10	0.40728	T	0.16	.	6.8132	0.23817	0.2105:0.0:0.6669:0.1226	.	177	O43293	DAPK3_HUMAN	M	177;177;32	ENSP00000301264:I177M;ENSP00000442973:I177M	ENSP00000301264:I177M	I	-	3	3	DAPK3	3915264	1.000000	0.71417	0.998000	0.56505	0.662000	0.39071	0.779000	0.26746	0.692000	0.31613	0.555000	0.69702	ATC	DAPK3	-	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		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964264	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3964264	G	C	3964264	3	2	160	1	0	0	0	0	1	0	0	0	4242	932	33	1	857	1	DAPK3	19	3964264	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	432222	3964264	55164719	1946	30219										
DAPK3	1613	genome.wustl.edu	37	chr19	3964695	3964695	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgtccaggatctgcttgagGaactgggtggcctcgtcctc	13	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3964695G>A	ENST00000545797.2	-	3	600	c.357C>T	c.(355-357)ttC>ttT	p.F119F	DAPK3_ENST00000301264.3_Silent_p.F119F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTTGAGGAACTGGGTGG	0.627																																																	0													123	121	122					19																	3964695		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.357C>T	19.37:g.3964695G>A			A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.F119	ENST00000545797.2	37	c.357	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964695	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3964695	G	A	3964695	2	1	160	1	0	0	0	0	0	0	0	1	4242	1165	41	1		1	DAPK3	19	3964695	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	431	3964695	55164288	1947	30220										
DAPK3	1613	genome.wustl.edu	37	chr19	3964824	3964824	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagatgtcgtgcagggtgatGatgttggggtgccggatctc	17	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3964824G>A	ENST00000545797.2	-	3	471	c.228C>T	c.(226-228)atC>atT	p.I76I	DAPK3_ENST00000301264.3_Silent_p.I76I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGTGATGATGTTGGGGT	0.617																																																	0													122	122	122					19																	3964824		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.228C>T	19.37:g.3964824G>A			A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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	p.I76	ENST00000545797.2	37	c.228	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964824	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3964824	G	A	3964824	2	1	160	1	0	0	0	0	0	0	0	1	4242	1280	45	1		1	DAPK3	19	3964824	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	129	3964824	55164159	1948	30221										
EEF2	1938	genome.wustl.edu	37	chr19	3984204	3984204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagcgtgtctccccggcccGggccgaggcgatgatgcccg	16	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:3984204G>A	ENST00000309311.6	-	2	236	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGCCCGGGCCGAGGCG	0.627																																					Colon(165;1804 1908 4071 6587 18799)												0													119	113	115					19																	3984204		2203	4300	6503	SO:0001583	missense	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.148C>T	19.37:g.3984204G>A	ENSP00000307940:p.Arg50Trp		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R50W	ENST00000309311.6	37	c.148	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261473	0.80358	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76709	-1.04	5.34	4.29	0.51040	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.60609	0.877	T	0.83111	-0.0123	10	0.87932	D	0	-43.7742	12.3725	0.55261	0.0:0.0:0.6934:0.3065	.	50	P13639	EF2_HUMAN	W	50	ENSP00000307940:R50W	ENSP00000307940:R50W	R	-	1	2	EEF2	3935204	1.000000	0.71417	0.544000	0.28141	0.429000	0.31625	3.769000	0.55303	1.229000	0.43630	0.655000	0.94253	CGG	EEF2	-	pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3984204	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3984204	G	A	3984204	3	1	160	1	0	0	0	0	1	0	0	0	4939	1115	39	2	2484	2	EEF2	19	3984204	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	19380	3984204	55144779	1949	30222										
SH3GL1	6455	genome.wustl.edu	37	chr19	4362348	4362348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgctccggctaggggtccgGatgggcttgtcggaagatcg	17	9	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4362348G>C	ENST00000269886.3	-	9	1066	c.888C>G	c.(886-888)atC>atG	p.I296M	SH3GL1_ENST00000598564.1_Missense_Mutation_p.I232M|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.I248M	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	296					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TAGGGGTCCGGATGGGCTTGT	0.617			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													73	71	72					19																	4362348		2203	4300	6503	SO:0001583	missense	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.888C>G	19.37:g.4362348G>C	ENSP00000269886:p.Ile296Met		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.I296M	ENST00000269886.3	37	c.888	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	8.880	0.951419	0.18431	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.34472	1.77;1.36	4.81	1.26	0.21427	Src homology-3 domain (1);	0.926163	0.09225	N	0.831402	T	0.21103	0.0508	N	0.19112	0.55	0.24821	N	0.992582	B;B;B	0.21225	0.053;0.007;0.007	B;B;B	0.18263	0.021;0.013;0.013	T	0.24941	-1.0146	10	0.40728	T	0.16	-8.5348	4.0428	0.09760	0.0898:0.1594:0.5862:0.1647	.	248;296;296	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	M	296;248	ENSP00000269886:I296M;ENSP00000404568:I248M	ENSP00000269886:I296M	I	-	3	3	SH3GL1	4313348	0.361000	0.24972	0.597000	0.28824	0.976000	0.68499	0.434000	0.21494	0.058000	0.16222	0.561000	0.74099	ATC	SH3GL1	-	superfamily_SH3_domain		0.617	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	G	NM_003025		4362348	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	missense	SNP	0.701	C	C	4362348	G	C	4362348	3	2	160	1	0	0	0	0	1	0	0	0	14280	1164	41	1	226	1	SH3GL1	19	4362348	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	378144	4362348	54766635	1950	30223										
PLIN4	729359	genome.wustl.edu	37	chr19	4513500	4513500	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacagccttcgaggtgtccaGacccccttggacggccccct	11	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4513500G>C	ENST00000301286.3	-	3	429	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	144	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GAGGTGTCCAGACCCCCTTGG	0.652																																																	0													41	45	44					19																	4513500		1962	4133	6095	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.430C>G	19.37:g.4513500G>C	ENSP00000301286:p.Leu144Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L144V	ENST00000301286.3	37	c.430	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478435	0.26511	.	.	ENSG00000167676	ENST00000301286	T	0.19250	2.16	5.36	-1.42	0.08913	.	0.747887	0.11064	N	0.603701	T	0.06781	0.0173	N	0.05608	-0.01	0.09310	N	0.999998	B	0.32604	0.377	B	0.33121	0.158	T	0.30268	-0.9984	10	0.02654	T	1	-11.5493	3.4973	0.07659	0.0762:0.2556:0.2999:0.3682	.	144	Q96Q06	PLIN4_HUMAN	V	144	ENSP00000301286:L144V	ENSP00000301286:L144V	L	-	1	2	PLIN4	4464500	0.000000	0.05858	0.093000	0.20910	0.228000	0.25075	-1.147000	0.03188	-0.081000	0.12662	0.511000	0.50034	CTG	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.652	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	G	XM_170901		4513500	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.040	C	C	4513500	G	C	4513500	3	2	160	1	0	0	0	0	1	0	0	0	12116	933	33	1	3659	1	PLIN4	19	4513500	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	151152	4513500	54615483	1951	30224										
PLIN5	440503	genome.wustl.edu	37	chr19	4529814	4529814	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgtctccgaaggttgctgGagaaagggaagcttctcttc	12	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4529814G>A	ENST00000381848.3	-	4	401	c.321C>T	c.(319-321)ctC>ctT	p.L107L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	107	Essential for lipid droplet targeting. {ECO:0000250}.|Interaction with LIPE. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AAGGTTGCTGGAGAAAGGGAA	0.627																																																	0													80	83	82					19																	4529814		1949	4139	6088	SO:0001819	synonymous_variant	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.321C>T	19.37:g.4529814G>A			A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L107	ENST00000381848.3	37	c.321	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.627	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	G	NM_001013706		4529814	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	silent	SNP	0.855	A	A	4529814	G	A	4529814	2	1	160	1	0	0	0	0	0	0	0	1	12117	1161	41	1		1	PLIN5	19	4529814	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	16314	4529814	54599169	1952	30225										
FEM1A	55527	genome.wustl.edu	37	chr19	4793205	4793205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactcttctcctacgtgcttCaggaccgggccgccaaaggc	10	15	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4793205C>G	ENST00000269856.3	+	1	1478	c.1339C>G	c.(1339-1341)Cag>Gag	p.Q447E	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	447					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTACGTGCTTCAGGACCGGGC	0.627																																																	0													81	92	88					19																	4793205		2203	4295	6498	SO:0001583	missense	55527			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1339C>G	19.37:g.4793205C>G	ENSP00000269856:p.Gln447Glu		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q447E	ENST00000269856.3	37	c.1339	CCDS12135.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777112	0.49786	.	.	ENSG00000141965	ENST00000269856	T	0.65732	-0.17	5.07	5.07	0.68467	.	0.000000	0.64402	U	0.000001	T	0.63129	0.2485	L	0.59436	1.845	0.80722	D	1	P	0.42248	0.774	B	0.43331	0.416	T	0.60250	-0.7300	10	0.19147	T	0.46	-13.5183	18.4416	0.90669	0.0:1.0:0.0:0.0	.	447	Q9BSK4	FEM1A_HUMAN	E	447	ENSP00000269856:Q447E	ENSP00000269856:Q447E	Q	+	1	0	FEM1A	4744205	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	7.639000	0.83342	2.352000	0.79861	0.491000	0.48974	CAG	FEM1A	-	NULL		0.627	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1	C			4793205	1	no_errors	ENST00000269856	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4793205	C	G	4793205	3	3	160	1	0	0	0	0	1	0	0	0	5827	827	29	1	1341	1	FEM1A	19	4793205	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	263391	4793205	54335778	1953	30226										
TICAM1	148022	genome.wustl.edu	37	chr19	4818198	4818198	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggccaccgcatcggccttCaatgcctctagagagatcct	10	15	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:4818198C>G	ENST00000248244.5	-	2	421	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	64					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATCGGCCTTCAATGCCTCTA	0.677																																																	0													21	21	21					19																	4818198		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.192G>C	19.37:g.4818198C>G	ENSP00000248244:p.Leu64Phe		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.L64F	ENST00000248244.5	37	c.192	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576245	0.65878	.	.	ENSG00000127666	ENST00000248244	T	0.52754	0.65	4.84	-0.306	0.12780	.	0.000000	0.30752	N	0.008959	T	0.59582	0.2204	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52064	-0.8625	10	0.87932	D	0	-20.5533	9.3458	0.38107	0.0:0.5077:0.4152:0.0771	.	64	Q8IUC6	TCAM1_HUMAN	F	64	ENSP00000248244:L64F	ENSP00000248244:L64F	L	-	3	2	TICAM1	4769198	0.000000	0.05858	0.007000	0.13788	0.153000	0.21895	-0.036000	0.12185	0.078000	0.16900	0.591000	0.81541	TTG	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.677	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	C	NM_014261		4818198	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	0.074	G	G	4818198	C	G	4818198	3	3	160	1	0	0	0	0	1	0	0	0	15922	825	29	1	1950	1	TICAM1	19	4818198	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	24993	4818198	54310785	1954	30227										
SAFB	6294	genome.wustl.edu	37	chr19	5641634	5641634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagaagaagagggtgtggaaGataacgggctggaggaaaac	17	4	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:5641634G>C	ENST00000292123.5	+	3	411	c.304G>C	c.(304-306)Gat>Cat	p.D102H	SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.D102H|SAFB_ENST00000588852.1_Missense_Mutation_p.D102H|SAFB_ENST00000454510.1_Missense_Mutation_p.D102H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	102					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGGTGTGGAAGATAACGGGCT	0.512																																					Colon(88;338 1345 6184 8214 20897)												0													183	156	165					19																	5641634		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.304G>C	19.37:g.5641634G>C	ENSP00000292123:p.Asp102His		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.D102H	ENST00000292123.5	37	c.304	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328151	0.81690	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000292123	T;T	0.13657	2.59;2.57	5.65	4.56	0.56223	.	0.000000	0.64402	D	0.000014	T	0.36853	0.0982	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.999;0.999;0.862;0.999;0.999;0.999	T	0.10894	-1.0610	10	0.87932	D	0	-35.2471	15.3907	0.74741	0.0:0.0:0.8601:0.1399	.	102;102;102;102;102;102	F5H0H3;B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;.;SAFB1_HUMAN;.	H	102	ENSP00000415895:D102H;ENSP00000292123:D102H	ENSP00000292123:D102H	D	+	1	0	SAFB	5592634	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.138000	0.71717	2.670000	0.90874	0.557000	0.71058	GAT	SAFB	-	NULL		0.512	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	G			5641634	1	no_errors	ENST00000588852	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5641634	G	C	5641634	3	2	160	1	0	0	0	0	1	0	0	0	13836	942	33	1	314	1	SAFB	19	5641634	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	823436	5641634	53487349	1955	30228										
NRTN	4902	genome.wustl.edu	37	chr19	5824321	5824321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcctgcctcgaaccctggacGcccggattgcccgcctggcc	12	19	0	0	rs371970077		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:5824321G>A	ENST00000303212.2	+	1	509	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	AC011499.1_ENST00000579264.1_RNA	NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	49					axon guidance (GO:0007411)|MAPK cascade (GO:0000165)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|extracellular region (GO:0005576)	receptor binding (GO:0005102)			large_intestine(1)	1						AACCCTGGACGCCCGGATTGC	0.647																																																	0								G	THR/ALA	1,4399		0,1,2199	21	19	20		145	-1.5	1	19		20	0,8594		0,0,4297	no	missense	NRTN	NM_004558.3	58	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	49/198	5824321	1,12993	2200	4297	6497	SO:0001583	missense	4902			U78110	CCDS12151.1	19p13.3	2014-01-30				ENSG00000171119		"Endogenous ligands"	8007	protein-coding gene	gene with protein product	"prepro-neurturin"	602018				8945474	Standard	NM_004558		Approved	NTN	uc002mde.3	Q99748		ENST00000303212.2:c.145G>A	19.37:g.5824321G>A	ENSP00000302648:p.Ala49Thr		B2RPE8	Missense_Mutation	SNP	pfam_TGF-b_C	p.A49T	ENST00000303212.2	37	c.145	CCDS12151.1	19	.	.	.	.	.	.	.	.	.	.	G	5.998	0.368138	0.11352	2.27E-4	0.0	ENSG00000171119	ENST00000303212	D	0.82803	-1.65	4.34	-1.49	0.08718	.	0.325633	0.28724	N	0.014360	T	0.60051	0.2239	N	0.14661	0.345	0.20638	N	0.999879	B	0.21147	0.052	B	0.06405	0.002	T	0.45308	-0.9270	10	0.14656	T	0.56	-4.9724	5.8273	0.18560	0.2916:0.1727:0.5357:0.0	.	49	Q99748	NRTN_HUMAN	T	49	ENSP00000302648:A49T	ENSP00000302648:A49T	A	+	1	0	NRTN	5775321	0.994000	0.37717	0.985000	0.45067	0.463000	0.32649	0.907000	0.28531	-0.138000	0.11434	-2.069000	0.00389	GCC	NRTN	-	NULL		0.647	NRTN-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NRTN	HGNC	protein_coding	OTTHUMT00000451882.2	G	NM_004558		5824321	1	no_errors	ENST00000303212	ensembl	human	known	70_37	missense	SNP	0.947	A	A	5824321	G	A	5824321	3	1	160	1	0	0	0	0	1	0	0	0	10688	1087	38	2	147	2	NRTN	19	5824321	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	182687	5824321	53304662	1956	30229										
CLPP	8192	genome.wustl.edu	37	chr19	6368611	6368611	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccaggagtttggcatcttaGacaaggttctggtccaccct	10	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6368611G>C	ENST00000245816.4	+	6	847	c.724G>C	c.(724-726)Gac>Cac	p.D242H	CLPP_ENST00000596605.1_3'UTR|CLPP_ENST00000596149.1_Missense_Mutation_p.D155H	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	242					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						TGGCATCTTAGACAAGGTTCT	0.612																																																	0													54	40	45					19																	6368611		2203	4300	6503	SO:0001583	missense	8192			Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"ATPases / AAA-type"	2084	protein-coding gene	gene with protein product	"ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"	601119	"ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog", "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)", "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.724G>C	19.37:g.6368611G>C	ENSP00000245816:p.Asp242His		B2R4W5	Missense_Mutation	SNP	pfam_ClpP/TepA,prints_ClpP	p.D242H	ENST00000245816.4	37	c.724	CCDS12162.1	19	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846288	0.91277	.	.	ENSG00000125656	ENST00000245816	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94871	0.8030	9	0.87932	D	0	-53.1202	17.8939	0.88880	0.0:0.0:1.0:0.0	.	242	Q16740	CLPP_HUMAN	H	242	.	ENSP00000245816:D242H	D	+	1	0	CLPP	6319611	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	8.719000	0.91436	2.583000	0.87209	0.563000	0.77884	GAC	CLPP	-	pfam_ClpP/TepA,prints_ClpP		0.612	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPP	HGNC	protein_coding	OTTHUMT00000452984.1	G	NM_006012		6368611	1	no_errors	ENST00000245816	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6368611	G	C	6368611	3	2	160	1	0	0	0	0	1	0	0	0	3557	942	33	1	746	1	CLPP	19	6368611	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	544290	6368611	52760372	1957	30230										
TUBB4	10382	genome.wustl.edu	37	chr19	6495204	6495204	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcctcctccgcctcctcctCgaactcgccctcctcggccg	6	24	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6495204C>G	ENST00000264071.2	-	4	1677	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E436Q|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	436					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GCCTCCTCCTCGAACTCGCCC	0.622																																																	0													71	65	67					19																	6495204		2203	4300	6503	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1306G>C	19.37:g.6495204C>G	ENSP00000264071:p.Glu436Gln		B3KQP4|Q969E5	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.E436Q	ENST00000264071.2	37	c.1306	CCDS12168.1	19	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781932	0.31502	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.71934	-0.61;-0.61	3.13	3.13	0.36017	.	0.000000	0.64402	U	0.000006	T	0.78792	0.4339	M	0.87456	2.885	0.50171	D	0.999856	P	0.44281	0.831	P	0.47786	0.557	D	0.83948	0.0315	10	0.87932	D	0	.	13.3769	0.60743	0.0:1.0:0.0:0.0	.	436	P04350	TBB4A_HUMAN	Q	436;436;354	ENSP00000264071:E436Q;ENSP00000443590:E436Q	ENSP00000264071:E436Q	E	-	1	0	TUBB4	6446204	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	5.921000	0.70028	1.473000	0.48159	0.306000	0.20318	GAG	TUBB4A	-	prints_Alpha_tubulin		0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	C	NM_006087		6495204	-1	no_errors	ENST00000264071	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6495204	C	G	6495204	3	3	160	1	0	0	0	0	1	0	0	0	16789	893	31	1	32	1	TUBB4	19	6495204	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	126593	6495204	52633779	1958	30231										
C3	718	genome.wustl.edu	37	chr19	6707916	6707916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccggggtgcagccgatgtCtgccttctccaccacgtccc	11	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:6707916C>G	ENST00000245907.6	-	15	1962	c.1870G>C	c.(1870-1872)Gac>Cac	p.D624H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	624					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CAGCCGATGTCTGCCTTCTCC	0.652																																																	0													55	50	52					19																	6707916		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1870G>C	19.37:g.6707916C>G	ENSP00000245907:p.Asp624His		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.D624H	ENST00000245907.6	37	c.1870	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103527	0.76983	.	.	ENSG00000125730	ENST00000245907	T	0.59083	0.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	M	0.93939	3.475	0.49687	D	0.999817	D	0.89917	1.0	D	0.71656	0.974	D	0.86921	0.2067	10	0.66056	D	0.02	.	16.684	0.85300	0.0:1.0:0.0:0.0	.	624	P01024	CO3_HUMAN	H	624	ENSP00000245907:D624H	ENSP00000245907:D624H	D	-	1	0	C3	6658916	1.000000	0.71417	0.925000	0.36789	0.603000	0.37013	6.795000	0.75140	2.241000	0.73720	0.609000	0.83330	GAC	C3	-	NULL		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6707916	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.999	G	G	6707916	C	G	6707916	3	3	160	1	0	0	0	0	1	0	0	0	2209	913	32	1	3229	1	C3	19	6707916	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	212712	6707916	52421067	1959	30232										
INSR	3643	genome.wustl.edu	37	chr19	7132175	7132175	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatggagacttacaatagtCtgtcacgtagaaataggtgg	11	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:7132175C>T	ENST00000302850.5	-	14	2978	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	INSR_ENST00000341500.5_Missense_Mutation_p.D934N	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	946	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TTACAATAGTCTGTCACGTAG	0.602																																																	0													86	73	77					19																	7132175		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2836G>A	19.37:g.7132175C>T	ENSP00000303830:p.Asp946Asn		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D946N	ENST00000302850.5	37	c.2836	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651269	0.29336	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.75477	-0.94;-0.94	6.07	3.98	0.46160	Fibronectin, type III (2);	0.308557	0.22349	N	0.061225	T	0.65719	0.2718	L	0.47716	1.5	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58853	-0.7563	10	0.30854	T	0.27	.	10.8087	0.46533	0.0:0.8478:0.0:0.1522	.	934;946	P06213-2;P06213	.;INSR_HUMAN	N	946;934	ENSP00000303830:D946N;ENSP00000342838:D934N	ENSP00000303830:D946N	D	-	1	0	INSR	7083175	0.997000	0.39634	0.704000	0.30370	0.076000	0.17211	3.484000	0.53201	0.907000	0.36646	0.655000	0.94253	GAC	INSR	-	superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	C			7132175	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	0.995	T	T	7132175	C	T	7132175	3	4	160	1	0	0	0	0	1	0	0	0	7793	913	32	1	1348	1	INSR	19	7132175	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	424259	7132175	51996808	1960	30233										
MAP2K7	5609	genome.wustl.edu	37	chr19	7975365	7975365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgctccgggaacaaggagGagaacaagcgcatcctcatg	14	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:7975365G>A	ENST00000397979.3	+	5	529	c.475G>A	c.(475-477)Gag>Aag	p.E159K	MAP2K7_ENST00000397983.3_Missense_Mutation_p.E175K|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.E159K|MAP2K7_ENST00000545011.1_Missense_Mutation_p.E201K	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GAACAAGGAGGAGAACAAGCG	0.632																																																	0													44	46	46					19																	7975365		2152	4253	6405	SO:0001583	missense	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.475G>A	19.37:g.7975365G>A	ENSP00000381066:p.Glu159Lys		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	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.E201K	ENST00000397979.3	37	c.601	CCDS42491.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.621826	0.96660	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	N	0.13352	0.335	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.934;0.989	T	0.72157	-0.4375	10	0.87932	D	0	-1.1506	15.9151	0.79508	0.0:0.0:1.0:0.0	.	159;159	O14733-4;O14733	.;MP2K7_HUMAN	K	159;175;201;175;159	ENSP00000381068:E159K;ENSP00000381070:E175K;ENSP00000443946:E201K;ENSP00000381066:E159K	ENSP00000381066:E159K	E	+	1	0	MAP2K7	7881365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.086000	0.71352	2.438000	0.82558	0.555000	0.69702	GAG	MAP2K7	-	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		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	HGNC	protein_coding	OTTHUMT00000267980.1	G			7975365	1	no_errors	ENST00000545011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7975365	G	A	7975365	3	1	160	1	0	0	0	0	1	0	0	0	9265	1175	41	1	493	1	MAP2K7	19	7975365	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	843190	7975365	51153618	1961	30234										
HNRNPM	4670	genome.wustl.edu	37	chr19	8532465	8532465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatagaccaatgcacgtcaaGatggtaagtcagtaggatct	11	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:8532465G>C	ENST00000325495.4	+	8	872	c.831G>C	c.(829-831)aaG>aaC	p.K277N	HNRNPM_ENST00000348943.3_Missense_Mutation_p.K238N	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	277	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGCACGTCAAGATGGTAAGTC	0.353																																																	0													126	111	116					19																	8532465		2203	4300	6503	SO:0001583	missense	4670			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.831G>C	19.37:g.8532465G>C	ENSP00000325376:p.Lys277Asn		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.K277N	ENST00000325495.4	37	c.831	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614959	0.66672	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.36157	1.27;3.35	5.44	0.434	0.16539	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	N	0.20530	0.585	0.80722	D	1	P;D;D;P;D	0.89917	0.932;0.992;0.999;0.762;1.0	P;P;D;B;D	0.87578	0.653;0.898;0.998;0.21;0.996	T	0.21965	-1.0230	10	0.87932	D	0	.	9.4031	0.38444	0.593:0.0:0.407:0.0	.	117;277;238;238;177	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	N	277;238;177	ENSP00000325376:K277N;ENSP00000325732:K238N	ENSP00000325376:K277N	K	+	3	2	HNRNPM	8438465	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.677000	0.46892	0.131000	0.18576	-0.302000	0.09304	AAG	HNRNPM	-	smart_RRM_dom,pfscan_RRM_dom		0.353	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	G			8532465	1	no_errors	ENST00000325495	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8532465	G	C	8532465	3	2	160	1	0	0	0	0	1	0	0	0	7291	933	33	1	861	1	HNRNPM	19	8532465	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	557100	8532465	50596518	1962	30235										
MUC16	94025	genome.wustl.edu	37	chr19	9011002	9011002	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccacagagctccgatgggtGaaacctgcatagagaaggag	14	9	0	3	rs374640134		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:9011002G>A	ENST00000397910.4	-	37	39119	c.38916C>T	c.(38914-38916)ttC>ttT	p.F12972F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12974					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCGATGGGTGAAACCTGCAT	0.542													N|||	1	0.000199681	8e-04	0	5008	,	,		18718	0		0	False		,,,				2504	0																0								G		1,3841		0,1,1920	142	127	132		38916	1.8	0.8	19		132	0,8228		0,0,4114	no	coding-synonymous	MUC16	NM_024690.2		0,1,6034	AA,AG,GG		0.0,0.026,0.0083		12972/14508	9011002	1,12069	1921	4114	6035	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38916C>T	19.37:g.9011002G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.F12972	ENST00000397910.4	37	c.38916	CCDS54212.1	19																																																																																			MUC16	-	smart_SEA		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9011002	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.856	A	A	9011002	G	A	9011002	2	1	160	1	0	0	0	0	0	0	0	1	9996	1281	45	1		1	MUC16	19	9011002	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	478537	9011002	50117981	1963	30236										
TYK2	7297	genome.wustl.edu	37	chr19	10461627	10461627	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcctctgtctcccagcagttCttcatgagatgatagaccta	8	12	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461627C>G	ENST00000525621.1	-	25	3928	c.3447G>C	c.(3445-3447)aaG>aaC	p.K1149N	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.K1149N|TYK2_ENST00000524462.1_Missense_Mutation_p.K964N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1149	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCAGCAGTTCTTCATGAGAT	0.542																																																	0													84	83	83					19																	10461627		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3447G>C	19.37:g.10461627C>G	ENSP00000431885:p.Lys1149Asn		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.K1149N	ENST00000525621.1	37	c.3447	CCDS12236.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.593617|3.593617	0.66219|0.66219	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792|ENST00000525976	D;D;D|.	0.83506|.	-1.73;-1.73;-1.73|.	5.38|5.38	4.32|4.32	0.51571|0.51571	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.52532|.	D|.	0.000073|.	T|T	0.45236|0.45236	0.1332|0.1332	L|L	0.31926|0.31926	0.97|0.97	0.53688|0.53688	D|D	0.99997|0.99997	D|.	0.76494|.	0.999|.	D|.	0.73708|.	0.981|.	T|T	0.30880|0.30880	-0.9963|-0.9963	10|5	0.48119|.	T|.	0.1|.	-48.6619|-48.6619	7.9946|7.9946	0.30261|0.30261	0.0:0.8068:0.0:0.1932|0.0:0.8068:0.0:0.1932	.|.	1149|.	P29597|.	TYK2_HUMAN|.	N|T	964;1149;1149;896|26	ENSP00000433203:K964N;ENSP00000431885:K1149N;ENSP00000264818:K1149N|.	ENSP00000264818:K1149N|.	K|R	-|-	3|2	2|0	TYK2|TYK2	10322627|10322627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	0.941000|0.941000	0.29005|0.29005	1.334000|1.334000	0.45468|0.45468	0.591000|0.591000	0.81541|0.81541	AAG|AGA	TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.542	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10461627	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10461627	C	G	10461627	3	3	160	1	0	0	0	0	1	0	0	0	16841	912	32	1	120	1	TYK2	19	10461627	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1450625	10461627	48667356	1964	30237			4	124		5	5	1602	C		6.60584e-06
TYK2	7297	genome.wustl.edu	37	chr19	10461768	10461768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccgtggcagcctctcccctCgttccagcaactcagtgagt	10	16	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461768C>T	ENST00000525621.1	-	24	3870	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.R1130Q|TYK2_ENST00000524462.1_Missense_Mutation_p.R945Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1130	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCTCCCCTCGTTCCAGCAA	0.522																																																	0													68	63	64					19																	10461768		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3389G>A	19.37:g.10461768C>T	ENSP00000431885:p.Arg1130Gln		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.R1130Q	ENST00000525621.1	37	c.3389	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768900	0.49680	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	1.26	0.21427	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000288	T	0.63745	0.2537	N	0.13371	0.34	0.29981	N	0.817683	B	0.23854	0.092	B	0.17098	0.017	T	0.53795	-0.8388	10	0.36615	T	0.2	-2.8722	5.1833	0.15171	0.1455:0.6189:0.0:0.2356	.	1130	P29597	TYK2_HUMAN	Q	945;1130;1130;877	ENSP00000433203:R945Q;ENSP00000431885:R1130Q;ENSP00000264818:R1130Q	ENSP00000264818:R1130Q	R	-	2	0	TYK2	10322768	0.000000	0.05858	0.958000	0.39756	0.878000	0.50629	-0.006000	0.12833	0.075000	0.16796	0.591000	0.81541	CGA	TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.522	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10461768	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.591	T	T	10461768	C	T	10461768	3	4	160	1	0	0	0	0	1	0	0	0	16841	884	31	1	182	1	TYK2	19	10461768	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	141	10461768	48667215	1965	30238			4	124		5	5	1602	C		6.60584e-06
TYK2	7297	genome.wustl.edu	37	chr19	10461781	10461781	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcccctcgttccagcaactCagtgagtctcagaactgtca	7	15	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461781C>G	ENST00000525621.1	-	24	3857	c.3376G>C	c.(3376-3378)Gag>Cag	p.E1126Q	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.E1126Q|TYK2_ENST00000524462.1_Missense_Mutation_p.E941Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1126	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCCAGCAACTCAGTGAGTCTC	0.498																																																	0													73	66	68					19																	10461781		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3376G>C	19.37:g.10461781C>G	ENSP00000431885:p.Glu1126Gln		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E1126Q	ENST00000525621.1	37	c.3376	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893448	0.33442	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.83250	-1.7;-1.7;-1.7	5.68	3.57	0.40892	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.118152	0.35407	N	0.003222	T	0.76652	0.4017	L	0.37507	1.11	0.23956	N	0.996353	P	0.42908	0.793	B	0.43331	0.416	T	0.70004	-0.4991	10	0.62326	D	0.03	-42.855	9.6653	0.39981	0.0:0.8328:0.0:0.1672	.	1126	P29597	TYK2_HUMAN	Q	941;1126;1126;873	ENSP00000433203:E941Q;ENSP00000431885:E1126Q;ENSP00000264818:E1126Q	ENSP00000264818:E1126Q	E	-	1	0	TYK2	10322781	0.001000	0.12720	0.491000	0.27477	0.057000	0.15508	0.785000	0.26830	1.408000	0.46895	-0.229000	0.12294	GAG	TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.498	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10461781	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.327	G	G	10461781	C	G	10461781	3	3	160	1	0	0	0	0	1	0	0	0	16841	835	29	1	195	1	TYK2	19	10461781	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	13	10461781	48667202	1966	30239			4	124		5	5	1602	C		6.60584e-06
TYK2	7297	genome.wustl.edu	37	chr19	10461839	10461839	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctatgagctcaaggaatttCtacagtataaacaagacaag	7	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10461839C>T	ENST00000525621.1	-	24	3800		c.e24-1		TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000524462.1_Splice_Site	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAAGGAATTTCTACAGTATAA	0.517																																																	0													45	40	42					19																	10461839		2203	4300	6503	SO:0001630	splice_region_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3319-1G>A	19.37:g.10461839C>T			Q6QB10|Q96CH0	Splice_Site	SNP	-	e22-1	ENST00000525621.1	37	c.3319-1	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528063	0.44969	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2702	0.87099	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYK2	10322839	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	6.996000	0.76263	2.676000	0.91093	0.591000	0.81541	.	TYK2	-	-		0.517	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C		Intron	10461839	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	10461839	C	T	10461839	5	4	160	1	0	0	0	0	0	0	1	0	16841	927	32	1	253	1	TYK2	19	10461839	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	58	10461839	48667144	1967	30240			4	124		5	5	1602	C		6.60584e-06
TYK2	7297	genome.wustl.edu	37	chr19	10463228	10463228	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaggcactctggggcatacCtagggggaggggggcactca	17	10	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10463228C>T	ENST00000525621.1	-	23	3682		c.e23-1		TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000524462.1_Splice_Site	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGGGCATACCTAGGGGGAGG	0.607																																																	0													49	51	50					19																	10463228		2203	4300	6503	SO:0001630	splice_region_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3201-1G>A	19.37:g.10463228C>T			Q6QB10|Q96CH0	Splice_Site	SNP	-	e21-1	ENST00000525621.1	37	c.3201-1	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164954	0.78339	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2878	0.82732	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYK2	10324228	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.516000	0.67055	2.459000	0.83118	0.549000	0.68633	.	TYK2	-	-		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C		Intron	10463228	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	10463228	C	T	10463228	5	4	160	1	0	0	0	0	0	0	1	0	16841	695	24	4	375	4	TYK2	19	10463228	Splice_Site	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1389	10463228	48665755	1968	30241			4	124		5	5	1602	C		6.60584e-06
PDE4A	5141	genome.wustl.edu	37	chr19	10571734	10571734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttcgcggctgccatccacGatgtggatcaccctggggtc	12	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:10571734G>A	ENST00000352831.6	+	11	1530	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	PDE4A_ENST00000293683.5_Missense_Mutation_p.D448N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D452N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D235N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D452N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D413N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	474	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCCATCCACGATGTGGATCA	0.597																																																	0													47	41	43					19																	10571734		2203	4300	6503	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1420G>A	19.37:g.10571734G>A	ENSP00000270474:p.Asp474Asn		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D474N	ENST00000352831.6	37	c.1420	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595852	0.86953	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.15	4.15	0.48705	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.97806	4.08	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;1.0;0.998;0.993;0.997	D	0.96553	0.9409	10	0.87932	D	0	.	13.9646	0.64200	0.0:0.0:1.0:0.0	.	140;235;413;448;474	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	452;474;448;413;235;140	ENSP00000370078:D452N;ENSP00000270474:D474N;ENSP00000293683:D448N;ENSP00000394754:D413N;ENSP00000341007:D235N	ENSP00000293683:D448N	D	+	1	0	PDE4A	10432734	1.000000	0.71417	0.573000	0.28510	0.485000	0.33311	9.520000	0.98027	2.172000	0.68678	0.555000	0.69702	GAT	PDE4A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.597	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	G			10571734	1	no_errors	ENST00000352831	ensembl	human	known	70_37	missense	SNP	0.997	A	A	10571734	G	A	10571734	3	1	160	1	0	0	0	0	1	0	0	0	11663	1058	37	1	1919	1	PDE4A	19	10571734	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	108506	10571734	48557249	1969	30242										
DOCK6	57572	genome.wustl.edu	37	chr19	11362920	11362920	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtatgctgcactcaggtactGatacctagcaggaaacgggg	13	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:11362920G>C	ENST00000294618.7	-	5	393	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	128					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTCAGGTACTGATACCTAGCA	0.617																																																	0													29	32	31					19																	11362920		2009	4170	6179	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.382C>G	19.37:g.11362920G>C	ENSP00000294618:p.Gln128Glu		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.Q128E	ENST00000294618.7	37	c.382	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850482	0.32699	.	.	ENSG00000130158	ENST00000294618	T	0.43294	0.95	4.16	4.16	0.48862	.	0.146684	0.46145	D	0.000303	T	0.44138	0.1279	L	0.46157	1.445	0.80722	D	1	P	0.36183	0.542	B	0.42462	0.388	T	0.46775	-0.9167	10	0.48119	T	0.1	-28.4001	15.626	0.76859	0.0:0.0:1.0:0.0	.	128	Q96HP0	DOCK6_HUMAN	E	128	ENSP00000294618:Q128E	ENSP00000294618:Q128E	Q	-	1	0	DOCK6	11223920	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	6.276000	0.72601	2.034000	0.60081	0.561000	0.74099	CAG	DOCK6	-	pfam_DOCK_C/D_N		0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	G	NM_020812		11362920	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11362920	G	C	11362920	3	2	160	1	0	0	0	0	1	0	0	0	4701	1299	45	1	5937	1	DOCK6	19	11362920	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	791186	11362920	47766063	1970	30243										
ZNF136	7695	genome.wustl.edu	37	chr19	12297438	12297438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggatggtagtcagcgtggagGaatttttagccagtttgcaa	14	5	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12297438G>A	ENST00000343979.4	+	4	385	c.245G>A	c.(244-246)gGa>gAa	p.G82E	ZNF136_ENST00000398616.2_Missense_Mutation_p.G16E	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CAGCGTGGAGGAATTTTTAGC	0.373																																																	0													79	78	78					19																	12297438		2203	4300	6503	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.245G>A	19.37:g.12297438G>A	ENSP00000344162:p.Gly82Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G82E	ENST00000343979.4	37	c.245	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.060417	0.00386	.	.	ENSG00000196646	ENST00000439995;ENST00000343979;ENST00000398616	T;T;T	0.04406	4.42;3.63;3.67	1.4	-1.25	0.09405	Krueppel-associated box (1);	.	.	.	.	T	0.00967	0.0032	N	0.00170	-1.935	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.47209	-0.9135	8	.	.	.	.	4.614	0.12417	0.405:0.0:0.595:0.0	.	82	P52737	ZN136_HUMAN	E	16;82;16	ENSP00000388759:G16E;ENSP00000344162:G82E;ENSP00000381617:G16E	.	G	+	2	0	ZNF136	12158438	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.152000	0.16302	-0.382000	0.07870	0.655000	0.94253	GGA	ZNF136	-	pfscan_Krueppel-associated_box		0.373	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2	G	NM_003437		12297438	1	no_errors	ENST00000343979	ensembl	human	known	70_37	missense	SNP	0.000	A	A	12297438	G	A	12297438	3	1	160	1	0	0	0	0	1	0	0	0	17756	1174	41	1	259	1	ZNF136	19	12297438	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	934518	12297438	46831545	1971	30244										
ZNF136	7695	genome.wustl.edu	37	chr19	12298265	12298265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcaaatacatgaaaggactCacactggagaaaaaccttat	6	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12298265C>G	ENST00000343979.4	+	4	1212	c.1072C>G	c.(1072-1074)Cac>Gac	p.H358D	ZNF136_ENST00000398616.2_Missense_Mutation_p.H292D	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	358					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TGAAAGGACTCACACTGGAGA	0.398																																																	0													73	74	74					19																	12298265		2203	4300	6503	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1072C>G	19.37:g.12298265C>G	ENSP00000344162:p.His358Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H358D	ENST00000343979.4	37	c.1072	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368503	0.82463	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.67698	-0.28;-0.28	1.4	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85120	0.5624	H	0.96239	3.79	0.42046	D	0.991097	D	0.76494	0.999	D	0.83275	0.996	D	0.87440	0.2394	8	.	.	.	.	10.3955	0.44198	0.0:1.0:0.0:0.0	.	358	P52737	ZN136_HUMAN	D	358;292	ENSP00000344162:H358D;ENSP00000381617:H292D	.	H	+	1	0	ZNF136	12159265	1.000000	0.71417	0.028000	0.17463	0.991000	0.79684	6.077000	0.71275	1.072000	0.40860	0.655000	0.94253	CAC	ZNF136	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2	C	NM_003437		12298265	1	no_errors	ENST00000343979	ensembl	human	known	70_37	missense	SNP	0.996	G	G	12298265	C	G	12298265	3	3	160	1	0	0	0	0	1	0	0	0	17756	826	29	1	1086	1	ZNF136	19	12298265	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	827	12298265	46830718	1972	30245										
JUNB	3726	genome.wustl.edu	37	chr19	12902990	12902990	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accgaggagcaggagggcttCgccgacggctttgtcaaagc	15	11	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12902990C>T	ENST00000302754.4	+	1	681	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	135					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AGGAGGGCTTCGCCGACGGCT	0.706																																																	0													10	9	10					19																	12902990		2099	4175	6274	SO:0001819	synonymous_variant	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.405C>T	19.37:g.12902990C>T			Q96GH3	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F135	ENST00000302754.4	37	c.405	CCDS12280.1	19																																																																																			JUNB	-	pfam_JNK		0.706	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	C	NM_002229		12902990	1	no_errors	ENST00000302754	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12902990	C	T	12902990	2	4	160	1	0	0	0	0	0	0	0	1	7990	883	31	1		1	JUNB	19	12902990	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	604725	12902990	46225993	1973	30246										
RTBDN	83546	genome.wustl.edu	37	chr19	12936535	12936535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtccgctaggggccgctgccGcttccactgccactcccgct	11	19	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:12936535G>A	ENST00000458671.2	-	6	827	c.675C>T	c.(673-675)agC>agT	p.S225S	RTBDN_ENST00000322912.5_Silent_p.S257S|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Silent_p.S235S	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	225						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGCCGCTGCCGCTTCCACTGC	0.736											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6	6	6					19																	12936535		2140	4162	6302	SO:0001819	synonymous_variant	83546			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.675C>T	19.37:g.12936535G>A		683	F1T0I8|Q9BWT5	Silent	SNP	pfam_Folate_rcpt-like	p.S257	ENST00000458671.2	37	c.771	CCDS45994.1	19																																																																																			RTBDN	-	NULL		0.736	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RTBDN	HGNC	protein_coding	OTTHUMT00000451513.1	G	NM_031429		12936535	-1	no_errors	ENST00000322912	ensembl	human	known	70_37	silent	SNP	1.000	A	A	12936535	G	A	12936535	2	1	160	1	0	0	0	0	0	0	0	1	13747	1078	38	2		2	RTBDN	19	12936535	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	33545	12936535	46192448	1974	30247										
TRMT1	55621	genome.wustl.edu	37	chr19	13226520	13226520	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctttcagttcaaccttttCctcctcttgctctgacaagt	4	14	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:13226520C>G	ENST00000592062.1	-	5	943	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	TRMT1_ENST00000221504.8_Missense_Mutation_p.E125Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.E125Q|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Missense_Mutation_p.E125Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	125	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TCAACCTTTTCCTCCTCTTGC	0.547																																																	0													198	201	200					19																	13226520		2203	4300	6503	SO:0001583	missense	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.373G>C	19.37:g.13226520C>G	ENSP00000466967:p.Glu125Gln		O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.E125Q	ENST00000592062.1	37	c.373	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018141	0.54576	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.74	4.74	0.60224	.	0.400357	0.25925	N	0.027414	T	0.52677	0.1749	L	0.49455	1.56	0.53005	D	0.999964	P;B	0.35272	0.493;0.059	B;B	0.34779	0.189;0.077	T	0.55373	-0.8151	9	0.41790	T	0.15	-7.2131	15.261	0.73621	0.0:1.0:0.0:0.0	.	125;125	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	125	.	ENSP00000221504:E125Q	E	-	1	0	TRMT1	13087520	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	4.946000	0.63576	2.469000	0.83416	0.563000	0.77884	GAA	TRMT1	-	pfam_TRM1,tigrfam_TRM1		0.547	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	C	NM_017722		13226520	-1	no_errors	ENST00000357720	ensembl	human	known	70_37	missense	SNP	0.999	G	G	13226520	C	G	13226520	3	3	160	1	0	0	0	0	1	0	0	0	16592	864	30	1	1662	1	TRMT1	19	13226520	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	289985	13226520	45902463	1975	30248										
CACNA1A	773	genome.wustl.edu	37	chr19	13616813	13616813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgaagaggaagagagaccGgttaaccgtgaggcagttct	15	7	1	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:13616813G>A	ENST00000360228.5	-	1	225	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R76W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	76					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGAGAGACCGGTTAACCGTG	0.562																																																	0													88	97	94					19																	13616813		2089	4213	6302	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.226C>T	19.37:g.13616813G>A	ENSP00000353362:p.Arg76Trp		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.R76W	ENST00000360228.5	37	c.226	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636203	0.29068	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.55052	0.54	3.36	2.32	0.28847	.	0.224290	0.27906	U	0.017374	T	0.66237	0.2769	M	0.67569	2.06	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.76575	0.924;0.988	T	0.66670	-0.5865	10	0.87932	D	0	.	9.4259	0.38578	0.1101:0.0:0.8899:0.0	.	76;76	O00555;Q9NS88	CAC1A_HUMAN;.	W	76	ENSP00000353362:R76W	ENSP00000317661:R76W	R	-	1	2	CACNA1A	13477813	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	5.092000	0.64511	0.635000	0.30488	-0.357000	0.07601	CGG	CACNA1A	-	NULL		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	G	NM_000068		13616813	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	1.000	A	A	13616813	G	A	13616813	3	1	160	1	0	0	0	0	1	0	0	0	2543	1115	39	2	7596	2	CACNA1A	19	13616813	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	390293	13616813	45512170	1976	30249										
EMR3	84658	genome.wustl.edu	37	chr19	14779642	14779642	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctgagtcacagctccaaaGaggctcagcagaaagcagag	11	10	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:14779642G>C	ENST00000253673.5	-	2	148	c.48C>G	c.(46-48)ctC>ctG	p.L16L	EMR3_ENST00000443157.2_Silent_p.L16L|EMR3_ENST00000595472.1_Silent_p.L16L|EMR3_ENST00000344373.4_Silent_p.L16L|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	16					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAGCTCCAAAGAGGCTCAGCA	0.502																																																	0													80	70	73					19																	14779642		2203	4300	6503	SO:0001819	synonymous_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.48C>G	19.37:g.14779642G>C				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.L16	ENST00000253673.5	37	c.48	CCDS12315.1	19																																																																																			EMR3	-	NULL		0.502	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	G	NM_032571		14779642	-1	no_errors	ENST00000253673	ensembl	human	known	70_37	silent	SNP	0.002	C	C	14779642	G	C	14779642	2	2	160	1	0	0	0	0	0	0	0	1	5118	929	33	1		1	EMR3	19	14779642	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1162829	14779642	44349341	1977	30250										
SYDE1	85360	genome.wustl.edu	37	chr19	15223195	15223195	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggaccacctgcgcctcgtCtcctccttccatgcctacaa	6	19	1	0	rs138928655		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15223195C>T	ENST00000342784.2	+	7	1648	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	SYDE1_ENST00000600252.1_Silent_p.V196V|SYDE1_ENST00000600440.1_Silent_p.V472V	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	539	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TGCGCCTCGTCTCCTCCTTCC	0.637																																																	0								C		1,4405		0,1,2202	69	51	57		1617	3.6	1	19	dbSNP_134	57	0,8598		0,0,4299	no	coding-synonymous	SYDE1	NM_033025.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		539/736	15223195	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1617C>T	19.37:g.15223195C>T			Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V539	ENST00000342784.2	37	c.1617	CCDS12324.1	19																																																																																			SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.637	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15223195	1	no_errors	ENST00000342784	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15223195	C	T	15223195	2	4	160	1	0	0	0	0	0	0	0	1	15465	900	32	1		1	SYDE1	19	15223195	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	443553	15223195	43905788	1978	30251										
BRD4	23476	genome.wustl.edu	37	chr19	15349236	15349236	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatagatcactctggaaattCatgtcaatggtagctgccat	8	8	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15349236C>T	ENST00000263377.2	-	20	4262	c.4041G>A	c.(4039-4041)atG>atA	p.M1347I	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1347	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTGGAAATTCATGTCAATGG	0.468			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													111	111	111					19																	15349236		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.4041G>A	19.37:g.15349236C>T	ENSP00000263377:p.Met1347Ile		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.M1347I	ENST00000263377.2	37	c.4041	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	13.24	2.177492	0.38413	.	.	ENSG00000141867	ENST00000263377	T	0.54479	0.57	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000014	T	0.65883	0.2734	L	0.49455	1.56	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.69224	-0.5201	10	0.87932	D	0	-21.5421	16.9536	0.86252	0.0:1.0:0.0:0.0	.	1347	O60885	BRD4_HUMAN	I	1347	ENSP00000263377:M1347I	ENSP00000263377:M1347I	M	-	3	0	BRD4	15210236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.481000	0.66826	2.284000	0.76573	0.558000	0.71614	ATG	BRD4	-	NULL		0.468	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15349236	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15349236	C	T	15349236	3	4	160	1	0	0	0	0	1	0	0	0	1507	826	29	1	51	1	BRD4	19	15349236	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	126041	15349236	43779747	1979	30252										
WIZ	58525	genome.wustl.edu	37	chr19	15547730	15547730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggcggacccccaggctctCggcccagggggctggggggc	19	15	1	0	rs376481490		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15547730C>T	ENST00000389282.4	-	4	2696	c.2483G>A	c.(2482-2484)cGa>cAa	p.R828Q	WIZ_ENST00000263381.7_Missense_Mutation_p.R139Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	828					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCCAGGCTCTCGGCCCAGGGG	0.672																																																	0								C	GLN/ARG	1,3881		0,1,1940	34	40	38		416	-0.4	0.2	19		38	1,8259		0,1,4129	no	missense	WIZ	NM_021241.2	43	0,2,6069	TT,TC,CC		0.0121,0.0258,0.0165	benign	139/795	15547730	2,12140	1941	4130	6071	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2483G>A	19.37:g.15547730C>T	ENSP00000373933:p.Arg828Gln		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R828Q	ENST00000389282.4	37	c.2483		19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367525	0.42003	2.58E-4	1.21E-4	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.02498	4.27	4.26	-0.384	0.12474	.	1.128590	0.06617	N	0.756734	T	0.01627	0.0052	.	.	.	0.18873	N	0.999988	P	0.35192	0.489	B	0.17979	0.02	T	0.47812	-0.9088	9	0.29301	T	0.29	0.2731	4.6761	0.12712	0.0:0.5645:0.159:0.2765	.	139	O95785-2	.	Q	828;139	ENSP00000373933:R828Q	ENSP00000263381:R139Q	R	-	2	0	WIZ	15408730	.	.	0.206000	0.23566	0.968000	0.65278	.	.	-0.115000	0.11915	0.449000	0.29647	CGA	WIZ	-	NULL		0.672	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15547730	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.190	T	T	15547730	C	T	15547730	3	4	160	1	0	0	0	0	1	0	0	0	17406	884	31	1	1992	1	WIZ	19	15547730	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	198494	15547730	43581253	1980	30253										
CYP4F3	4051	genome.wustl.edu	37	chr19	15769098	15769098	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacctggcccagctgcccttCctgaccatgtgcattaagga	10	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:15769098C>T	ENST00000221307.8	+	10	1187	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CYP4F3_ENST00000591058.1_Silent_p.F380F|CYP4F3_ENST00000586182.2_Silent_p.F380F|CYP4F3_ENST00000585846.1_Silent_p.F380F	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	380					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCTGCCCTTCCTGACCATGT	0.582																																																	0													91	93	92					19																	15769098		2203	4300	6503	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1140C>T	19.37:g.15769098C>T			B7Z8Z3|O60634|Q5U740	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F380	ENST00000221307.8	37	c.1140	CCDS12332.1	19																																																																																			CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.582	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	C	NM_000896		15769098	1	no_errors	ENST00000221307	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15769098	C	T	15769098	2	4	160	1	0	0	0	0	0	0	0	1	4195	854	30	1		1	CYP4F3	19	15769098	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	221368	15769098	43359885	1981	30254										
SIN3B	23309	genome.wustl.edu	37	chr19	16986961	16986961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctggtgggaacctgtcctcCcgctgcgtccgcgctgctag	14	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:16986961C>T	ENST00000248054.5	+	15	2709	c.2688C>T	c.(2686-2688)tcC>tcT	p.S896S	SIN3B_ENST00000379803.1_Silent_p.S928S|SIN3B_ENST00000595541.1_Silent_p.S486S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTGTCCTCCCGCTGCGTCC	0.647																																																	0													40	32	35					19																	16986961		2200	4300	6500	SO:0001819	synonymous_variant	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2688C>T	19.37:g.16986961C>T				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.S928	ENST00000248054.5	37	c.2784		19																																																																																			SIN3B	-	NULL		0.647	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	C	NM_015260		16986961	1	no_errors	ENST00000379803	ensembl	human	known	70_37	silent	SNP	0.950	T	T	16986961	C	T	16986961	2	4	160	1	0	0	0	0	0	0	0	1	14356	610	22	4		4	SIN3B	19	16986961	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1217863	16986961	42142022	1982	30255										
MYO9B	4650	genome.wustl.edu	37	chr19	17305930	17305930	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcagttggcaaggtctctGaagaaactgagaagacgctg	14	7	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17305930G>C	ENST00000594824.1	+	22	3841	c.3694G>C	c.(3694-3696)Gaa>Caa	p.E1232Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.E1232Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.E1232Q			Q13459	MYO9B_HUMAN	myosin IXB	1232	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAAGGTCTCTGAAGAAACTGA	0.617																																																	0													24	31	29					19																	17305930		1968	4158	6126	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3694G>C	19.37:g.17305930G>C	ENSP00000471367:p.Glu1232Gln		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1232Q	ENST00000594824.1	37	c.3694		19	.	.	.	.	.	.	.	.	.	.	G	7.013	0.557108	0.13436	.	.	ENSG00000099331	ENST00000397274	D	0.84660	-1.88	5.52	-2.4	0.06583	.	1.608250	0.04039	N	0.302722	T	0.66247	0.2770	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.08055	0.001;0.001;0.003	T	0.53585	-0.8418	10	0.14252	T	0.57	.	3.8967	0.09143	0.1398:0.3535:0.3856:0.1211	.	1232;1232;1238	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	1232	ENSP00000380444:E1232Q	ENSP00000380444:E1232Q	E	+	1	0	MYO9B	17166930	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.038000	0.12144	-0.536000	0.06298	-1.331000	0.01271	GAA	MYO9B	-	NULL		0.617	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17305930	1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	0.000	C	C	17305930	G	C	17305930	3	2	160	1	0	0	0	0	1	0	0	0	10108	1291	45	1	3776	1	MYO9B	19	17305930	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	318969	17305930	41823053	1983	30256										
ABHD8	79575	genome.wustl.edu	37	chr19	17405099	17405099	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaggtgcccgcctctacctCggccatgcgctggtcttcct	10	18	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17405099C>A	ENST00000247706.3	-	4	1386	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	383							hydrolase activity (GO:0016787)	p.E383*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCTCTACCTCGGCCATGCGC	0.692																																					Ovarian(156;1368 2543 15275 41187)												1	Substitution - Nonsense(1)	lung(1)											33	31	32					19																	17405099		2203	4299	6502	SO:0001587	stop_gained	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1147G>T	19.37:g.17405099C>A	ENSP00000247706:p.Glu383*		Q9HAE9	Nonsense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.E383*	ENST00000247706.3	37	c.1147	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.846917	0.97881	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-40.1754	16.4003	0.83639	0.0:1.0:0.0:0.0	.	.	.	.	X	383;329	.	ENSP00000247706:E383X	E	-	1	0	ABHD8	17266099	1.000000	0.71417	0.948000	0.38648	0.329000	0.28539	7.426000	0.80270	2.470000	0.83445	0.655000	0.94253	GAG	ABHD8	-	pfam_AB_hydrolase_1		0.692	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	C	NM_024527		17405099	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	17405099	C	A	17405099	4	1	160	1	0	0	0	0	0	1	0	0	87	893	31	3	180	3	ABHD8	19	17405099	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	99169	17405099	41723884	1984	30257										
BST2	684	genome.wustl.edu	37	chr19	17514607	17514607	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtacttcttgtccgcgattCtcacgcttaagacctggttt	8	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17514607C>T	ENST00000252593.6	-	4	512	c.440G>A	c.(439-441)aGa>aAa	p.R147K	BST2_ENST00000527220.1_5'UTR|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	147					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GTCCGCGATTCTCACGCTTAA	0.627																																																	0													115	109	111					19																	17514607		2203	4300	6503	SO:0001583	missense	684				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"CD molecules"	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.440G>A	19.37:g.17514607C>T	ENSP00000252593:p.Arg147Lys		A8K4Y4|Q53G07	Missense_Mutation	SNP	superfamily_Prefoldin	p.R147K	ENST00000252593.6	37	c.440	CCDS12358.1	19	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798486	0.31777	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.55052	0.54	1.45	0.237	0.15475	.	.	.	.	.	T	0.32763	0.0840	L	0.27053	0.805	0.09310	N	1	P	0.37141	0.584	B	0.33339	0.162	T	0.14504	-1.0470	9	0.48119	T	0.1	.	5.2171	0.15348	0.0:0.6264:0.3736:0.0	.	147	Q10589	BST2_HUMAN	K	147	ENSP00000252593:R147K	ENSP00000252593:R147K	R	-	2	0	BST2	17375607	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.226000	0.01211	0.150000	0.19136	0.297000	0.19635	AGA	BST2	-	superfamily_Prefoldin		0.627	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BST2	HGNC	protein_coding	OTTHUMT00000387346.1	C	NM_004335		17514607	-1	no_errors	ENST00000252593	ensembl	human	known	70_37	missense	SNP	0.000	T	T	17514607	C	T	17514607	3	4	160	1	0	0	0	0	1	0	0	0	1537	913	32	1	106	1	BST2	19	17514607	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	109508	17514607	41614376	1985	30258										
JAK3	3718	genome.wustl.edu	37	chr19	17948788	17948788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgaccttcagcagcacctCtgtctttcgggcctccccat	7	17	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:17948788C>G	ENST00000527670.1	-	11	1683	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	JAK3_ENST00000534444.1_Missense_Mutation_p.E552Q|JAK3_ENST00000458235.1_Missense_Mutation_p.E552Q|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	552	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGCAGCACCTCTGTCTTTCGG	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													180	179	179					19																	17948788		2203	4300	6503	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1654G>C	19.37:g.17948788C>G	ENSP00000432511:p.Glu552Gln		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E552Q	ENST00000527670.1	37	c.1654	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047381	0.55110	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	D;D;D	0.82984	-1.67;-1.67;-1.67	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.358530	0.24303	N	0.039705	D	0.90123	0.6914	M	0.73217	2.22	0.46044	D	0.998834	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.963	D	0.91042	0.4872	10	0.66056	D	0.02	-30.5381	15.6203	0.76802	0.0:1.0:0.0:0.0	.	552;552	P52333-2;P52333	.;JAK3_HUMAN	Q	552	ENSP00000391676:E552Q;ENSP00000432511:E552Q;ENSP00000436421:E552Q	ENSP00000413248:E552Q	E	-	1	0	JAK3	17809788	0.206000	0.23470	0.925000	0.36789	0.294000	0.27393	0.792000	0.26929	2.284000	0.76573	0.313000	0.20887	GAG	JAK3	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	C	NM_000215		17948788	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	missense	SNP	0.992	G	G	17948788	C	G	17948788	3	3	160	1	0	0	0	0	1	0	0	0	7959	922	32	1	1772	1	JAK3	19	17948788	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	434181	17948788	41180195	1986	30259										
IL12RB1	3594	genome.wustl.edu	37	chr19	18194269	18194269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcatccggatatggcgggtCctgaaaacagcactcactgg	12	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:18194269C>A	ENST00000600835.2	-	3	395	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	IL12RB1_ENST00000322153.7_Missense_Mutation_p.D33Y|IL12RB1_ENST00000593993.2_Missense_Mutation_p.D33Y			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	33					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TATGGCGGGTCCTGAAAACAG	0.562																																																	0													141	113	123					19																	18194269		2203	4300	6503	SO:0001583	missense	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.97G>T	19.37:g.18194269C>A	ENSP00000470788:p.Asp33Tyr		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D33Y	ENST00000600835.2	37	c.97	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386610	0.61956	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.75938	-0.98;-0.98	2.65	0.391	0.16282	.	0.805765	0.10350	U	0.685249	T	0.74068	0.3668	L	0.36672	1.1	0.23162	N	0.998197	D;D;D	0.69078	0.997;0.983;0.996	D;P;P	0.63192	0.912;0.827;0.819	T	0.60801	-0.7191	10	0.66056	D	0.02	.	4.2983	0.10913	0.0:0.6197:0.0:0.3803	.	33;33;33	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	Y	33	ENSP00000403103:D33Y;ENSP00000314425:D33Y	ENSP00000314425:D33Y	D	-	1	0	IL12RB1	18055269	0.787000	0.28750	0.676000	0.29932	0.701000	0.40568	0.432000	0.21461	-0.061000	0.13110	0.306000	0.20318	GAC	IL12RB1	-	NULL		0.562	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	C			18194269	-1	no_errors	ENST00000430026	ensembl	human	known	70_37	missense	SNP	0.755	A	A	18194269	C	A	18194269	3	1	160	1	0	0	0	0	1	0	0	0	7646	855	30	3	2084	3	IL12RB1	19	18194269	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	245481	18194269	40934714	1987	30260										
UPF1	5976	genome.wustl.edu	37	chr19	18968252	18968252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggcatccggcccatccgcCtgcaggtccagtaccggatg	13	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:18968252C>T	ENST00000599848.1	+	15	2334	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	UPF1_ENST00000262803.5_Silent_p.L698L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	709					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCATCCGCCTGCAGGTCCA	0.647																																																	0													37	38	38					19																	18968252		2203	4300	6503	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2125C>T	19.37:g.18968252C>T			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.L709	ENST00000599848.1	37	c.2125		19																																																																																			UPF1	-	NULL		0.647	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	C	NM_002911		18968252	1	no_errors	ENST00000599848	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18968252	C	T	18968252	2	4	160	1	0	0	0	0	0	0	0	1	17034	680	24	4		4	UPF1	19	18968252	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	773983	18968252	40160731	1988	30261										
NCAN	1463	genome.wustl.edu	37	chr19	19339343	19339343	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcatagaggacttcgaactgGaggtcctggcagggagcccg	16	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:19339343G>C	ENST00000252575.6	+	8	3013	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	NCAN_ENST00000538881.1_Missense_Mutation_p.E423Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	972					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTTCGAACTGGAGGTCCTGGC	0.647																																																	0													69	75	73					19																	19339343		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2914G>C	19.37:g.19339343G>C	ENSP00000252575:p.Glu972Gln		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E972Q	ENST00000252575.6	37	c.2914	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	1.731	-0.494054	0.04322	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85773	-1.86;-2.03	3.76	1.56	0.23342	.	0.794069	0.10671	N	0.647508	T	0.63581	0.2523	N	0.08118	0	0.09310	N	1	P;B	0.39480	0.675;0.158	B;B	0.34824	0.19;0.017	T	0.54853	-0.8231	10	0.14656	T	0.56	.	4.6181	0.12437	0.1282:0.2286:0.6431:0.0	.	986;972	Q4LE67;O14594	.;NCAN_HUMAN	Q	986;972;423	ENSP00000252575:E972Q;ENSP00000442202:E423Q	ENSP00000252575:E972Q	E	+	1	0	NCAN	19200343	0.874000	0.30092	0.046000	0.18839	0.058000	0.15608	1.180000	0.32005	0.533000	0.28675	0.491000	0.48974	GAG	NCAN	-	NULL		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19339343	1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.050	C	C	19339343	G	C	19339343	3	2	160	1	0	0	0	0	1	0	0	0	10228	1175	41	1	2940	1	NCAN	19	19339343	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	371091	19339343	39789640	1989	30262										
NCAN	1463	genome.wustl.edu	37	chr19	19351423	19351423	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	accctgcaggctttgggcatGaaaacacgtggatcggcctg	13	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:19351423G>C	ENST00000252575.6	+	12	3520	c.3421G>C	c.(3421-3423)Gaa>Caa	p.E1141Q	NCAN_ENST00000538881.1_Missense_Mutation_p.E592Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTTTGGGCATGAAAACACGTG	0.637																																																	0													134	100	111					19																	19351423		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3421G>C	19.37:g.19351423G>C	ENSP00000252575:p.Glu1141Gln		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E1141Q	ENST00000252575.6	37	c.3421	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	g	21.0	4.087694	0.76642	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.19532	2.14;2.14	3.98	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35677	N	0.003042	T	0.37758	0.1015	L	0.46741	1.465	0.48236	D	0.999613	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.66056	D	0.02	-15.6674	13.6121	0.62086	0.0:0.0:1.0:0.0	.	1141	O14594	NCAN_HUMAN	Q	1155;1141;592	ENSP00000252575:E1141Q;ENSP00000442202:E592Q	ENSP00000252575:E1141Q	E	+	1	0	NCAN	19212423	1.000000	0.71417	0.990000	0.47175	0.881000	0.50899	6.336000	0.72954	2.060000	0.61445	0.289000	0.19496	GAA	NCAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19351423	1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19351423	G	C	19351423	3	2	160	1	0	0	0	0	1	0	0	0	10228	1291	45	1	3463	1	NCAN	19	19351423	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	12080	19351423	39777560	1990	30263										
NDUFA13	51079	genome.wustl.edu	37	chr19	19638154	19638154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cactgttacaggcagaaaccGaccggaggtagcaccgcagg	13	12	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:19638154G>T	ENST00000507754.4	+	3	722	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.D80Y|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.D80Y|NDUFA13_ENST00000252576.5_Missense_Mutation_p.D163Y|NDUFA13_ENST00000503283.1_Missense_Mutation_p.D80Y|YJEFN3_ENST00000608404.1_Missense_Mutation_p.D80Y|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000428459.2_Missense_Mutation_p.D80Y			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	80					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GGCAGAAACCGACCGGAGGTA	0.627																																																	0													60	55	57					19																	19638154		2203	4300	6503	SO:0001583	missense	374887			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.238G>T	19.37:g.19638154G>T	ENSP00000423673:p.Asp80Tyr		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.D80Y	ENST00000507754.4	37	c.238	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470988	0.43942	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	D;D;D	0.87256	-2.23;-2.23;-2.23	4.03	4.03	0.46877	.	0.117869	0.53938	D	0.000042	D	0.94631	0.8269	H	0.95004	3.61	0.25753	N	0.985031	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.88106	0.2822	10	0.87932	D	0	.	11.5678	0.50815	0.0:0.0:1.0:0.0	.	80;80;80	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	Y	80;163;80;80	ENSP00000423673:D80Y;ENSP00000252576:D163Y;ENSP00000452549:D80Y	ENSP00000252576:D163Y	D	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19499154	1.000000	0.71417	0.996000	0.52242	0.047000	0.14425	6.315000	0.72853	2.110000	0.64415	0.585000	0.79938	GAC	YJEFN3	-	pfam_GRIM-19		0.627	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19638154	1	no_errors	ENST00000553705	ensembl	human	known	70_37	missense	SNP	0.995	T	T	19638154	G	T	19638154	3	4	160	1	0	0	0	0	1	0	0	0	10287	1058	37	3	248	3	NDUFA13	19	19638154	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	286731	19638154	39490829	1991	30264										
ZNF91	7644	genome.wustl.edu	37	chr19	23544415	23544415	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagggtttctctctagtatGaaatcttttatgtttagtaa	8	4	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:23544415G>A	ENST00000300619.7	-	4	1571	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.H424Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	456					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCTCTAGTATGAAATCTTTTA	0.363																																																	0													62	67	65					19																	23544415		2153	4278	6431	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1366C>T	19.37:g.23544415G>A	ENSP00000300619:p.His456Tyr		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H456Y	ENST00000300619.7	37	c.1366	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765235	0.31228	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.67523	-0.27;-0.27	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84247	0.5430	H	0.94462	3.54	0.35992	D	0.83675	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.88521	0.3096	9	0.87932	D	0	.	10.4786	0.44680	0.0:0.0:1.0:0.0	.	424;456	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	456;424	ENSP00000300619:H456Y;ENSP00000380272:H424Y	ENSP00000300619:H456Y	H	-	1	0	ZNF91	23336255	1.000000	0.71417	0.004000	0.12327	0.002000	0.02628	4.782000	0.62396	0.951000	0.37770	0.297000	0.19635	CAT	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23544415	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.994	A	A	23544415	G	A	23544415	3	1	160	1	0	0	0	0	1	0	0	0	18230	1290	45	1	2213	1	ZNF91	19	23544415	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3906261	23544415	35584568	1992	30265										
ZNF536	9745	genome.wustl.edu	37	chr19	31039383	31039383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccatgaaagtccacggagtgGatggtggtgaggagaaaccc	15	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:31039383G>C	ENST00000355537.3	+	4	3004	c.2857G>C	c.(2857-2859)Gat>Cat	p.D953H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	953					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D953Y(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGGAGTGGATGGTGGTGA	0.542																																																	2	Substitution - Missense(2)	lung(2)											116	125	122					19																	31039383		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2857G>C	19.37:g.31039383G>C	ENSP00000347730:p.Asp953His		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D953H	ENST00000355537.3	37	c.2857	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103529	0.06967	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.69	5.69	0.88448	.	0.204916	0.49916	D	0.000136	T	0.10078	0.0247	L	0.27053	0.805	0.27790	N	0.942847	P;P	0.37955	0.612;0.612	B;B	0.33690	0.168;0.168	T	0.09862	-1.0655	10	0.39692	T	0.17	-13.8036	19.7977	0.96492	0.0:0.0:1.0:0.0	.	953;953	A7E228;O15090	.;ZN536_HUMAN	H	953	ENSP00000347730:D953H	ENSP00000347730:D953H	D	+	1	0	ZNF536	35731223	1.000000	0.71417	0.234000	0.24042	0.760000	0.43138	4.601000	0.61090	2.692000	0.91855	0.491000	0.48974	GAT	ZNF536	-	NULL		0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		31039383	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.638	C	C	31039383	G	C	31039383	3	2	160	1	0	0	0	0	1	0	0	0	18004	1174	41	1	2867	1	ZNF536	19	31039383	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7494968	31039383	28089600	1993	30266										
SLC7A10	56301	genome.wustl.edu	37	chr19	33703233	33703233	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atctcctcggtgacatagttGaggaagttccagccactgaa	10	10	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:33703233G>A	ENST00000253188.4	-	5	899	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TGACATAGTTGAGGAAGTTCC	0.637																																																	0													36	29	32					19																	33703233		2201	4300	6501	SO:0001819	synonymous_variant	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.753C>T	19.37:g.33703233G>A			B2RE84	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.L251	ENST00000253188.4	37	c.753	CCDS12431.1	19																																																																																			SLC7A10	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.637	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2	G	NM_019849		33703233	-1	no_errors	ENST00000253188	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33703233	G	A	33703233	2	1	160	1	0	0	0	0	0	0	0	1	14723	1277	45	1		1	SLC7A10	19	33703233	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2663850	33703233	25425750	1994	30267										
CEBPA	1050	genome.wustl.edu	37	chr19	33792306	33792306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagctggcggaagatgccccGcagcgtgtccagttcgcggc	15	14	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:33792306G>A	ENST00000498907.2	-	1	1164	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	339	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					AAGATGCCCCGCAGCGTGTCC	0.682			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	2	Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(2)											22	25	24					19																	33792306		2196	4284	6480	SO:0001583	missense	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.1015C>T	19.37:g.33792306G>A	ENSP00000427514:p.Arg339Trp		A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.R339W	ENST00000498907.2	37	c.1015	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545555	0.65198	.	.	ENSG00000245848	ENST00000498907	T	0.55588	0.51	4.47	0.845	0.18950	Basic-leucine zipper (bZIP) transcription factor (2);	.	.	.	.	T	0.70386	0.3218	M	0.84585	2.705	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.69087	-0.5238	9	0.87932	D	0	.	8.4057	0.32614	0.0:0.1453:0.4066:0.4482	.	339	P49715	CEBPA_HUMAN	W	339	ENSP00000427514:R339W	ENSP00000427514:R339W	R	-	1	2	CEBPA	38484146	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.049000	0.30392	-0.022000	0.13986	-0.521000	0.04368	CGG	CEBPA	-	smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP		0.682	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	HGNC	protein_coding	OTTHUMT00000365012.1	G	NM_004364		33792306	-1	no_errors	ENST00000498907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33792306	G	A	33792306	3	1	160	1	0	0	0	0	1	0	0	0	3204	1086	38	2	65	2	CEBPA	19	33792306	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	89073	33792306	25336677	1995	30268										
KIAA0355	9710	genome.wustl.edu	37	chr19	34832880	34832880	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgccacagccatggtgactGagcagaaggcaggagccatg	14	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:34832880G>C	ENST00000299505.6	+	10	2914	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	681										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATGGTGACTGAGCAGAAGGC	0.592																																																	0													62	66	64					19																	34832880		2203	4300	6503	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2041G>C	19.37:g.34832880G>C	ENSP00000299505:p.Glu681Gln		Q2M3W4	Missense_Mutation	SNP	NULL	p.E681Q	ENST00000299505.6	37	c.2041	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710102	0.89018	.	.	ENSG00000166398	ENST00000299505	T	0.22945	1.93	5.73	5.73	0.89815	.	0.053378	0.64402	D	0.000001	T	0.32645	0.0836	L	0.27053	0.805	0.80722	D	1	P	0.48162	0.906	P	0.51701	0.677	T	0.03706	-1.1011	10	0.87932	D	0	-18.7636	18.8873	0.92383	0.0:0.0:1.0:0.0	.	681	O15063	K0355_HUMAN	Q	681	ENSP00000299505:E681Q	ENSP00000299505:E681Q	E	+	1	0	KIAA0355	39524720	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	2.708000	0.92522	0.655000	0.94253	GAG	KIAA0355	-	NULL		0.592	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	G	NM_014686		34832880	1	no_errors	ENST00000299505	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34832880	G	C	34832880	3	2	160	1	0	0	0	0	1	0	0	0	8190	1291	45	1	2075	1	KIAA0355	19	34832880	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1040574	34832880	24296103	1996	30269										
PDCD2L	84306	genome.wustl.edu	37	chr19	34916921	34916921	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtggaatttggaacaattCtagtttacacatgtgagaag	10	5	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:34916921C>G	ENST00000246535.3	+	7	1020	c.973C>G	c.(973-975)Cta>Gta	p.L325V	UBA2_ENST00000439527.2_5'Flank|UBA2_ENST00000246548.4_5'Flank|PDCD2L_ENST00000587065.2_Missense_Mutation_p.L23V|CTD-2588C8.8_ENST00000592220.1_RNA	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	325					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGGAACAATTCTAGTTTACAC	0.353																																																	0													96	98	98					19																	34916921		2203	4300	6503	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.973C>G	19.37:g.34916921C>G	ENSP00000246535:p.Leu325Val			Missense_Mutation	SNP	pfam_PDCD2_C	p.L325V	ENST00000246535.3	37	c.973	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694189	0.68386	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.46	4.41	0.53225	Programmed cell death protein 2, C-terminal (1);	0.068730	0.64402	D	0.000012	T	0.66446	0.2790	L	0.52823	1.66	0.42662	D	0.993489	D	0.76494	0.999	D	0.67725	0.953	T	0.62464	-0.6849	9	0.29301	T	0.29	-10.9706	10.958	0.47368	0.0:0.8531:0.0:0.1469	.	325	Q9BRP1	PDD2L_HUMAN	V	325	.	ENSP00000246535:L325V	L	+	1	2	PDCD2L	39608761	0.912000	0.30974	1.000000	0.80357	0.979000	0.70002	0.029000	0.13666	2.568000	0.86640	0.650000	0.86243	CTA	PDCD2L	-	pfam_PDCD2_C		0.353	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3	C	NM_032346		34916921	1	no_errors	ENST00000246535	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34916921	C	G	34916921	3	3	160	1	0	0	0	0	1	0	0	0	11644	912	32	1	999	1	PDCD2L	19	34916921	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	84041	34916921	24212062	1997	30270										
ZNF302	55900	genome.wustl.edu	37	chr19	35176024	35176024	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaccttactcaacatcaaaGaattcacagtatgaagaaaa	4	9	3	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:35176024G>A	ENST00000446502.2	+	6	1422	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	ZNF302_ENST00000457781.2_Missense_Mutation_p.R361K|ZNF302_ENST00000423823.2_Missense_Mutation_p.R361K|ZNF302_ENST00000505242.1_Missense_Mutation_p.R361K|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CAACATCAAAGAATTCACAGT	0.368																																																	0													35	36	36					19																	35176024		2192	4291	6483	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1214G>A	19.37:g.35176024G>A	ENSP00000396379:p.Arg405Lys		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R361K	ENST00000446502.2	37	c.1082		19	.	.	.	.	.	.	.	.	.	.	G	5.852	0.341477	0.11069	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	0.967	-0.124	0.13523	.	.	.	.	.	T	0.10465	0.0256	N	0.21508	0.67	0.23150	N	0.99822	B;B	0.12630	0.002;0.006	B;B	0.22152	0.004;0.038	T	0.33701	-0.9858	9	0.41790	T	0.15	.	5.3727	0.16148	0.2223:0.0:0.7777:0.0	.	405;361	E7EVR1;Q9NR11-2	.;.	K	361;361;361;405	ENSP00000391067:R361K;ENSP00000421028:R361K;ENSP00000405219:R361K;ENSP00000396379:R405K	ENSP00000405219:R361K	R	+	2	0	ZNF302	39867864	0.001000	0.12720	0.893000	0.35052	0.267000	0.26476	0.542000	0.23222	-0.009000	0.14296	-0.444000	0.05651	AGA	ZNF302	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	G			35176024	1	no_errors	ENST00000423823	ensembl	human	known	70_37	missense	SNP	0.997	A	A	35176024	G	A	35176024	3	1	160	1	0	0	0	0	1	0	0	0	17862	942	33	1	1096	1	ZNF302	19	35176024	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	259103	35176024	23952959	1998	30271										
RBM42	79171	genome.wustl.edu	37	chr19	36125187	36125187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccctgggtgaagacaagaaGaaggggaagccagagaaatt	14	7	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36125187G>A	ENST00000262633.4	+	8	1152	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	RBM42_ENST00000589871.1_Silent_p.K327K|RBM42_ENST00000589559.1_Silent_p.K320K|RBM42_ENST00000592202.1_Silent_p.K295K|RBM42_ENST00000588161.1_Silent_p.K319K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Silent_p.K320K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	349	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGACAAGAAGAAGGGGAAGC	0.607																																																	0													62	55	57					19																	36125187		2203	4300	6503	SO:0001819	synonymous_variant	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1047G>A	19.37:g.36125187G>A			O00320|Q8N5R7|Q9BU66	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K349	ENST00000262633.4	37	c.1047	CCDS12468.1	19																																																																																			RBM42	-	NULL		0.607	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	G	NM_024321		36125187	1	no_errors	ENST00000262633	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36125187	G	A	36125187	2	1	160	1	0	0	0	0	0	0	0	1	13166	933	33	1		1	RBM42	19	36125187	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	949163	36125187	23003796	1999	30272										
MLL4	9757	genome.wustl.edu	37	chr19	36229363	36229363	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccgcatcctgcgtggtgagGagctcacctacgactacaag	12	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36229363G>C	ENST00000222270.7	+	37	8053	c.8053G>C	c.(8053-8055)Gag>Cag	p.E2685Q	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E2685Q	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2685	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCGTGGTGAGGAGCTCACCTA	0.597																																																	0													69	73	72					19																	36229363		2203	4300	6503	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.8053G>C	19.37:g.36229363G>C	ENSP00000222270:p.Glu2685Gln		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2685Q	ENST00000222270.7	37	c.8053	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635123	0.67130	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.93859	-3.3;-3.3	5.42	5.42	0.78866	SET domain (3);	0.000000	0.45361	D	0.000367	D	0.98002	0.9342	H	0.97051	3.93	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99312	1.0904	10	0.87932	D	0	.	17.9826	0.89146	0.0:0.0:1.0:0.0	.	2685	Q9UMN6	MLL4_HUMAN	Q	2685	ENSP00000222270:E2685Q;ENSP00000398837:E2685Q	ENSP00000222270:E2685Q	E	+	1	0	AD000671.1	40921203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.551000	0.86045	0.462000	0.41574	GAG	WBP7	-	pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36229363	1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36229363	G	C	36229363	3	2	160	1	0	0	0	0	1	0	0	0	9646	1175	41	1	8199	1	MLL4	19	36229363	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	104176	36229363	22899620	2000	30273										
LIN37	55851	genome.wustl.edu	37	chr19	36239657	36239657	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaaggtgaaagtggagaaatCaggtgaggaccctgacgtcg	16	6	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:36239657C>G	ENST00000587708.2	+	0	1152				AC002398.11_ENST00000585365.1_RNA|AC002398.11_ENST00000591091.1_RNA|AC002398.9_ENST00000591613.2_Intron|LIN37_ENST00000301159.9_Nonsense_Mutation_p.S11*|LIN37_ENST00000591076.1_3'UTR			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGAGAAATCAGGTGAGGAC	0.612																																																	0													109	116	114					19																	36239657		1922	4119	6041	SO:0001628	intergenic_variant	55957			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"presenilin enhancer 2 homolog (C. elegans)"			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42			19.37:g.36239657C>G			B2R5L9	Nonsense_Mutation	SNP	NULL	p.S11*	ENST00000587708.2	37	c.32	CCDS12474.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.790451	0.97841	.	.	ENSG00000188223	ENST00000301159	.	.	.	5.88	5.88	0.94601	.	0.325896	0.29537	N	0.011871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.0E-4	19.0137	0.92884	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000301159:S11X	S	+	2	0	LIN37	40931497	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.732000	0.47352	2.782000	0.95742	0.655000	0.94253	TCA	LIN37	-	NULL		0.612	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	HGNC	protein_coding	OTTHUMT00000459101.2	C	NM_172341		36239657	1	no_errors	ENST00000301159	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	36239657	C	G	36239657	1	3	160	0	1	0	0	0	0	0	0	0	8828	838	29	1		1	LIN37	19	36239657	IGR	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	10294	36239657	22889326	2001	30274										
ZNF382	84911	genome.wustl.edu	37	chr19	37101590	37101590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgatatgatccgcaagttgGaacaaggagaagagctatgg	13	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37101590G>A	ENST00000292928.2	+	4	291	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ZNF382_ENST00000435416.1_Missense_Mutation_p.E60K|ZNF382_ENST00000439428.1_Missense_Mutation_p.E59K|ZNF382_ENST00000423582.1_Missense_Mutation_p.E11K	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.|Mediates interaction with TRIM28. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCGCAAGTTGGAACAAGGAGA	0.378																																																	0													122	114	116					19																	37101590		2203	4300	6503	SO:0001583	missense	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.178G>A	19.37:g.37101590G>A	ENSP00000292928:p.Glu60Lys		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E60K	ENST00000292928.2	37	c.178	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232602	0.79688	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.15139	2.45;5.38;5.38;5.38	4.4	4.4	0.53042	Krueppel-associated box (3);	0.148823	0.31347	N	0.007815	T	0.36524	0.0970	M	0.83118	2.625	0.34388	D	0.693859	D;D;D	0.58268	0.982;0.982;0.97	P;P;P	0.54965	0.765;0.765;0.587	T	0.54944	-0.8217	10	0.59425	D	0.04	.	12.7748	0.57441	0.0:0.0:1.0:0.0	.	59;60;60	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	K	11;60;59;60	ENSP00000389722:E11K;ENSP00000292928:E60K;ENSP00000407593:E59K;ENSP00000410113:E60K	ENSP00000292928:E60K	E	+	1	0	ZNF382	41793430	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	2.942000	0.49018	2.728000	0.93425	0.563000	0.77884	GAA	ZNF382	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.378	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	G	NM_032825		37101590	1	no_errors	ENST00000292928	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37101590	G	A	37101590	3	1	160	1	0	0	0	0	1	0	0	0	17903	1175	41	1	184	1	ZNF382	19	37101590	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	861933	37101590	22027393	2002	30275										
ZNF568	374900	genome.wustl.edu	37	chr19	37441179	37441179	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagagctttttctcgaatgtCatctgttacgctacatatga	7	8	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37441179C>T	ENST00000333987.7	+	7	1630	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.S311L|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCGAATGTCATCTGTTACG	0.368																																																	0													75	82	80					19																	37441179		2189	4292	6481	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1124C>T	19.37:g.37441179C>T	ENSP00000334685:p.Ser375Leu		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S375L	ENST00000333987.7	37	c.1124	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877509	0.51801	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.36520	1.25;1.25	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.295815	0.18636	N	0.135440	T	0.45013	0.1321	M	0.83953	2.67	0.21933	N	0.999463	P	0.45672	0.864	B	0.41332	0.354	T	0.51560	-0.8690	10	0.52906	T	0.07	.	14.9234	0.70856	0.0:1.0:0.0:0.0	.	375	Q3ZCX4	ZN568_HUMAN	L	375;311	ENSP00000334685:S375L;ENSP00000394514:S311L	ENSP00000334685:S375L	S	+	2	0	ZNF568	42133019	0.000000	0.05858	0.143000	0.22291	0.998000	0.95712	0.341000	0.19909	2.448000	0.82819	0.655000	0.94253	TCA	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	C	NM_198539		37441179	1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	0.014	T	T	37441179	C	T	37441179	3	4	160	1	0	0	0	0	1	0	0	0	18029	838	29	1	1142	1	ZNF568	19	37441179	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	339589	37441179	21687804	2003	30276										
ZNF383	163087	genome.wustl.edu	37	chr19	37733787	37733787	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttcacatgttactcggcatCtgaaaattcatactggcgaa	8	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37733787C>T	ENST00000589413.1	+	8	1232	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	ZNF383_ENST00000590503.1_Silent_p.L217L|ZNF383_ENST00000352998.3_Silent_p.L217L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCGGCATCTGAAAATTCA	0.368																																																	0													61	64	63					19																	37733787		2203	4300	6503	SO:0001819	synonymous_variant	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.649C>T	19.37:g.37733787C>T			Q6X2C7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L217	ENST00000589413.1	37	c.649	CCDS12501.1	19																																																																																			ZNF383	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	C	NM_152604		37733787	1	no_errors	ENST00000352998	ensembl	human	known	70_37	silent	SNP	0.869	T	T	37733787	C	T	37733787	2	4	160	1	0	0	0	0	0	0	0	1	17904	912	32	1		1	ZNF383	19	37733787	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	292608	37733787	21395196	2004	30277										
ZNF383	163087	genome.wustl.edu	37	chr19	37734033	37734033	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctaagagctcacaactttttCagcatgcacgaattcataca	5	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:37734033C>T	ENST00000589413.1	+	8	1478	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	ZNF383_ENST00000590503.1_Nonsense_Mutation_p.Q299*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.Q299*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAACTTTTTCAGCATGCACG	0.393																																																	0													63	62	62					19																	37734033		2203	4300	6503	SO:0001587	stop_gained	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.895C>T	19.37:g.37734033C>T	ENSP00000464871:p.Gln299*		Q6X2C7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q299*	ENST00000589413.1	37	c.895	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509117	0.85282	.	.	ENSG00000188283	ENST00000352998	.	.	.	3.69	2.55	0.30701	.	0.000000	0.30771	N	0.008912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	10.9186	0.47150	0.0:0.8073:0.1927:0.0	.	.	.	.	X	299	.	ENSP00000340132:Q299X	Q	+	1	0	ZNF383	42425873	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-1.136000	0.03222	2.047000	0.60756	0.563000	0.77884	CAG	ZNF383	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	C	NM_152604		37734033	1	no_errors	ENST00000352998	ensembl	human	known	70_37	nonsense	SNP	0.041	T	T	37734033	C	T	37734033	4	4	160	1	0	0	0	0	0	1	0	0	17904	827	29	1	909	1	ZNF383	19	37734033	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	246	37734033	21394950	2005	30278										
ZNF607	84775	genome.wustl.edu	37	chr19	38189966	38189966	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcaacactttcaaatgtatGaggtgcagtaagttgatggc	10	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38189966G>C	ENST00000355202.4	-	5	1661	c.1066C>G	c.(1066-1068)Cat>Gat	p.H356D	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H355D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCAAATGTATGAGGTGCAGTA	0.408																																																	0													78	74	75					19																	38189966		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1066C>G	19.37:g.38189966G>C	ENSP00000347338:p.His356Asp		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H356D	ENST00000355202.4	37	c.1066	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300799	0.40694	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.05258	3.47;3.47	1.67	0.493	0.16878	.	.	.	.	.	T	0.15089	0.0364	L	0.43152	1.355	0.09310	N	1	P;D	0.89917	0.579;1.0	B;D	0.91635	0.097;0.999	T	0.11966	-1.0566	9	0.87932	D	0	.	8.5645	0.33531	0.0:0.2416:0.7584:0.0	.	356;355	Q96SK3;F5H141	ZN607_HUMAN;.	D	356;355	ENSP00000347338:H356D;ENSP00000438015:H355D	ENSP00000347338:H356D	H	-	1	0	ZNF607	42881806	0.000000	0.05858	0.002000	0.10522	0.570000	0.35934	-0.109000	0.10840	0.023000	0.15187	0.561000	0.74099	CAT	ZNF607	-	NULL		0.408	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	G	NM_032689		38189966	-1	no_errors	ENST00000355202	ensembl	human	known	70_37	missense	SNP	0.042	C	C	38189966	G	C	38189966	3	2	160	1	0	0	0	0	1	0	0	0	18063	1290	45	1	1028	1	ZNF607	19	38189966	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	455933	38189966	20939017	2006	30279										
CATSPERG	57828	genome.wustl.edu	37	chr19	38857940	38857940	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acccggagatgccctgctttCtcttccgggacagtgtgtgt	12	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38857940C>G	ENST00000409235.3	+	23	2873	c.2758C>G	c.(2758-2760)Ctc>Gtc	p.L920V	CATSPERG_ENST00000410018.1_Missense_Mutation_p.L880V|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	920					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCCCTGCTTTCTCTTCCGGGA	0.577																																																	0													128	102	111					19																	38857940		2203	4300	6503	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2758C>G	19.37:g.38857940C>G	ENSP00000386962:p.Leu920Val		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.L920V	ENST00000409235.3	37	c.2758	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940687	0.52972	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34275	1.37;1.37	4.4	1.8	0.24995	.	0.375160	0.17877	N	0.158985	T	0.35682	0.0940	M	0.68952	2.095	0.80722	D	1	D;P	0.56035	0.974;0.884	P;B	0.44732	0.459;0.41	T	0.22068	-1.0227	10	0.51188	T	0.08	-25.0666	7.1134	0.25403	0.0:0.7416:0.0:0.2584	.	920;880	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	V	880;920;920	ENSP00000387057:L880V;ENSP00000386962:L920V	ENSP00000386962:L920V	L	+	1	0	CATSPERG	43549780	0.998000	0.40836	0.997000	0.53966	0.815000	0.46073	1.116000	0.31221	0.825000	0.34637	0.491000	0.48974	CTC	CATSPERG	-	NULL		0.577	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	C	NM_021185		38857940	1	no_errors	ENST00000409235	ensembl	human	known	70_37	missense	SNP	0.995	G	G	38857940	C	G	38857940	3	3	160	1	0	0	0	0	1	0	0	0	2697	913	32	1	2844	1	CATSPERG	19	38857940	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	667974	38857940	20271043	2007	30280										
RASGRP4	115727	genome.wustl.edu	37	chr19	38910797	38910797	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaagagtctcccagtcttctCtgggctgagttgccctcccg	11	14	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:38910797C>G	ENST00000587738.1	-	5	553	c.483G>C	c.(481-483)caG>caC	p.Q161H	RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q161H|RASGRP4_ENST00000454404.2_Missense_Mutation_p.Q161H|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q161H|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q161H|RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q161H|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q161H			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	161	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGTCTTCTCTGGGCTGAGT	0.602																																																	0													32	40	37					19																	38910797		2030	4173	6203	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.483G>C	19.37:g.38910797C>G	ENSP00000465772:p.Gln161His		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.Q161H	ENST00000587738.1	37	c.483	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.706444	0.00719	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.43	-1.09	0.09904	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.207146	0.41712	D	0.000833	T	0.25158	0.0611	N	0.25094	0.71	0.34310	D	0.685385	B;B;B;D;B;B;D	0.67145	0.218;0.053;0.02;0.996;0.012;0.012;0.996	B;B;B;P;B;B;P	0.59703	0.078;0.01;0.056;0.862;0.035;0.029;0.862	T	0.39333	-0.9619	10	0.17832	T	0.49	-18.3799	4.8109	0.13342	0.0:0.3914:0.1557:0.4529	.	161;161;161;161;161;161;161	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	H	161	ENSP00000411878:Q161H;ENSP00000293062:Q161H;ENSP00000445966:Q161H;ENSP00000416463:Q161H	ENSP00000293062:Q161H	Q	-	3	2	RASGRP4	43602637	0.011000	0.17503	0.037000	0.18230	0.234000	0.25298	-0.029000	0.12329	-0.270000	0.09285	-0.254000	0.11334	CAG	RASGRP4	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.602	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38910797	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.979	G	G	38910797	C	G	38910797	3	3	160	1	0	0	0	0	1	0	0	0	13107	912	32	1	1590	1	RASGRP4	19	38910797	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	52857	38910797	20218186	2008	30281										
RYR1	6261	genome.wustl.edu	37	chr19	39055628	39055628	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccaagcgccagttcatcttCgacgtggtgaacgagggcgg	14	11	2	1	rs118192128		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39055628C>T	ENST00000359596.3	+	91	12654	c.12654C>T	c.(12652-12654)ttC>ttT	p.F4218F	RYR1_ENST00000360985.3_Silent_p.F4213F|RYR1_ENST00000355481.4_Silent_p.F4213F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4218					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.F4218F(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGTTCATCTTCGACGTGGTGA	0.632																																																	1	Substitution - coding silent(1)	large_intestine(1)											28	22	24					19																	39055628		2201	4296	6497	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12654C>T	19.37:g.39055628C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.F4218	ENST00000359596.3	37	c.12654	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39055628	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39055628	C	T	39055628	2	4	160	1	0	0	0	0	0	0	0	1	13798	883	31	1		1	RYR1	19	39055628	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	144831	39055628	20073355	2009	30282										
RINL	126432	genome.wustl.edu	37	chr19	39361534	39361534	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcaaggtcttcctcctcctCttccagtaggctggcgagag	10	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39361534C>T	ENST00000591812.1	-	8	786	c.700G>A	c.(700-702)Gag>Aag	p.E234K	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.E120K|RINL_ENST00000340740.3_Missense_Mutation_p.E120K|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	234	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCCTCCTCCTCTTCCAGTAGG	0.632																																																	0													62	68	66					19																	39361534		2203	4299	6502	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.700G>A	19.37:g.39361534C>T	ENSP00000467107:p.Glu234Lys		B4DPG5	Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.E234K	ENST00000591812.1	37	c.700	CCDS59386.1	19	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584212	0.46110	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.49720	0.77	5.15	2.91	0.33838	.	2.507560	0.01166	N	0.006744	T	0.37598	0.1009	L	0.29908	0.895	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.004	T	0.17048	-1.0382	10	0.20519	T	0.43	-20.8833	6.9846	0.24721	0.0:0.7753:0.0:0.2247	.	234;120	B4DPG5;Q6ZS11	.;RINL_HUMAN	K	120	ENSP00000340369:E120K	ENSP00000340369:E120K	E	-	1	0	RINL	44053374	0.000000	0.05858	0.192000	0.23308	0.009000	0.06853	-0.812000	0.04496	1.309000	0.44985	0.436000	0.28706	GAG	RINL	-	NULL		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RINL	HGNC	protein_coding	OTTHUMT00000460433.1	C	NM_198445		39361534	-1	no_errors	ENST00000591812	ensembl	human	known	70_37	missense	SNP	0.038	T	T	39361534	C	T	39361534	3	4	160	1	0	0	0	0	1	0	0	0	13405	922	32	1	1020	1	RINL	19	39361534	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	305906	39361534	19767449	2010	30283										
SARS2	54938	genome.wustl.edu	37	chr19	39408399	39408399	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctctgtcaagatctccatCtgaagggacaggaactcctc	9	12	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39408399C>G	ENST00000221431.6	-	12	1284	c.1125G>C	c.(1123-1125)caG>caC	p.Q375H	CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.D445H|SARS2_ENST00000430193.3_Missense_Mutation_p.Q375H|SARS2_ENST00000594171.1_Missense_Mutation_p.Q185H|SARS2_ENST00000448145.2_Missense_Mutation_p.Q375H|SARS2_ENST00000600042.1_Missense_Mutation_p.Q377H|SARS2_ENST00000598831.1_Missense_Mutation_p.Q23H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	375					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGATCTCCATCTGAAGGGACA	0.637																																																	0													76	68	71					19																	39408399		2203	4300	6503	SO:0001583	missense	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1125G>C	19.37:g.39408399C>G	ENSP00000221431:p.Gln375His		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.Q377H	ENST00000221431.6	37	c.1131	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	c	19.89	3.910618	0.72983	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.67865	-0.29;-0.29	4.87	4.87	0.63330	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.92026	3.265	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.996;0.999	D	0.89462	0.3737	9	0.87932	D	0	.	10.4809	0.44693	0.0:0.9075:0.0:0.0925	.	375;377;375;375	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	H	377;375;375	ENSP00000221431:Q375H;ENSP00000399330:Q375H	ENSP00000221431:Q375H	Q	-	3	2	FBXO17	44100239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.856000	0.48341	2.258000	0.74832	0.479000	0.44913	CAG	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1		0.637	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1	C	NM_017827		39408399	-1	no_errors	ENST00000600042	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39408399	C	G	39408399	3	3	160	1	0	0	0	0	1	0	0	0	13875	912	32	1	451	1	SARS2	19	39408399	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	46865	39408399	19720584	2011	30284										
MED29	55588	genome.wustl.edu	37	chr19	39882224	39882224	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcaacagcaacaggacttCgatcctgtgcagcgttataa	9	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39882224C>G	ENST00000599213.2	+	1	189	c.162C>G	c.(160-162)ttC>ttG	p.F54L	MED29_ENST00000594368.1_Missense_Mutation_p.F54L|MED29_ENST00000315588.5_Missense_Mutation_p.F75L|PAF1_ENST00000221266.7_5'Flank|PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221265.3_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	54	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AACAGGACTTCGATCCTGTGC	0.597																																																	0													42	42	42					19																	39882224		2203	4299	6502	SO:0001583	missense	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.162C>G	19.37:g.39882224C>G	ENSP00000471802:p.Phe54Leu		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_Mediator_Med29_met	p.F75L	ENST00000599213.2	37	c.225		19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744051	0.30865	.	.	ENSG00000063322	ENST00000315588	.	.	.	5.79	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	N	0.13140	0.3	0.40559	D	0.981198	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.36939	-0.9727	9	0.07325	T	0.83	-41.9511	11.1451	0.48426	0.0:0.9135:0.0:0.0865	.	54;75	Q9NX70;B4DUA7	MED29_HUMAN;.	L	75	.	ENSP00000314343:F75L	F	+	3	2	MED29	44574064	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.403000	0.20982	2.734000	0.93682	0.655000	0.94253	TTC	MED29	-	pfam_Mediator_Med29_met		0.597	MED29-011	KNOWN	basic|appris_candidate	protein_coding	MED29	HGNC	protein_coding	OTTHUMT00000470870.1	C	XM_290829		39882224	1	no_errors	ENST00000315588	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39882224	C	G	39882224	3	3	160	1	0	0	0	0	1	0	0	0	9470	883	31	1	227	1	MED29	19	39882224	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	473825	39882224	19246759	2012	30285										
ZFP36	7538	genome.wustl.edu	37	chr19	39898437	39898437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catccgaccatggagggactGagtccagcccaggctggggc	15	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39898437G>C	ENST00000248673.3	+	2	137	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ZFP36_ENST00000597629.1_Missense_Mutation_p.E33Q|ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	27					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGGACTGAGTCCAGCCC	0.687																																					NSCLC(67;1164 1324 12056 21056 30097)												0													72	81	78					19																	39898437		2202	4299	6501	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.79G>C	19.37:g.39898437G>C	ENSP00000248673:p.Glu27Gln		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E33Q	ENST00000248673.3	37	c.97		19	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740261	0.30865	.	.	ENSG00000128016	ENST00000248673	T	0.18960	2.18	2.44	2.44	0.29823	.	21.783200	0.00166	U	0.000002	T	0.13841	0.0335	L	0.27053	0.805	0.09310	N	1	P	0.35155	0.487	B	0.29440	0.102	T	0.20273	-1.0280	10	0.19590	T	0.45	-4.5858	4.935	0.13935	0.178:0.0:0.822:0.0	.	27	P26651	TTP_HUMAN	Q	27	ENSP00000248673:E27Q	ENSP00000248673:E27Q	E	+	1	0	ZFP36	44590277	0.938000	0.31826	0.680000	0.29994	0.919000	0.55068	2.602000	0.46257	1.199000	0.43173	0.478000	0.44815	GAG	ZFP36	-	NULL		0.687	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		G			39898437	1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.210	C	C	39898437	G	C	39898437	3	2	160	1	0	0	0	0	1	0	0	0	17675	1291	45	1	85	1	ZFP36	19	39898437	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	16213	39898437	19230546	2013	30286										
ZFP36	7538	genome.wustl.edu	37	chr19	39898586	39898586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcccccaccccctggcttCgcaccgctggctccccgcct	9	23	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:39898586C>G	ENST00000248673.3	+	2	286	c.228C>G	c.(226-228)ttC>ttG	p.F76L	ZFP36_ENST00000597629.1_Missense_Mutation_p.F82L|ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	76					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCTTCGCACCGCTGG	0.706																																					NSCLC(67;1164 1324 12056 21056 30097)												0													18	22	20					19																	39898586		2189	4273	6462	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.228C>G	19.37:g.39898586C>G	ENSP00000248673:p.Phe76Leu		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.F82L	ENST00000248673.3	37	c.246		19	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414922	0.62511	.	.	ENSG00000128016	ENST00000248673	T	0.17691	2.26	3.91	-5.74	0.02391	.	0.192139	0.36778	N	0.002401	T	0.07324	0.0185	L	0.27053	0.805	0.31470	N	0.668526	B	0.17038	0.02	B	0.15484	0.013	T	0.35919	-0.9769	10	0.14656	T	0.56	-10.4583	6.8344	0.23927	0.1233:0.2379:0.0:0.6388	.	76	P26651	TTP_HUMAN	L	76	ENSP00000248673:F76L	ENSP00000248673:F76L	F	+	3	2	ZFP36	44590426	0.000000	0.05858	0.967000	0.41034	0.894000	0.52154	-2.057000	0.01395	-0.909000	0.03852	-0.275000	0.10095	TTC	ZFP36	-	NULL		0.706	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		C			39898586	1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.378	G	G	39898586	C	G	39898586	3	3	160	1	0	0	0	0	1	0	0	0	17675	883	31	1	234	1	ZFP36	19	39898586	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	149	39898586	19230397	2014	30287										
DYRK1B	9149	genome.wustl.edu	37	chr19	40319105	40319105	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctgcgccagcttccgggtCaggttcagcgagacgccgcg	15	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40319105C>G	ENST00000593685.1	-	6	1107	c.639G>C	c.(637-639)ctG>ctC	p.L213L	DYRK1B_ENST00000348817.3_Silent_p.L213L|DYRK1B_ENST00000430012.2_Silent_p.L213L|DYRK1B_ENST00000323039.5_Silent_p.L213L|DYRK1B_ENST00000597639.1_Silent_p.L213L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCTTCCGGGTCAGGTTCAGCG	0.592																																																	0													68	64	66					19																	40319105		2203	4300	6503	SO:0001819	synonymous_variant	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.639G>C	19.37:g.40319105C>G			O75258|O75788|O75789	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L213	ENST00000593685.1	37	c.639	CCDS12543.1	19																																																																																			DYRK1B	-	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		0.592	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2	C	NM_004714		40319105	-1	no_errors	ENST00000323039	ensembl	human	known	70_37	silent	SNP	1.000	G	G	40319105	C	G	40319105	2	3	160	1	0	0	0	0	0	0	0	1	4865	813	29	1		1	DYRK1B	19	40319105	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	420519	40319105	18809878	2015	30288										
FCGBP	8857	genome.wustl.edu	37	chr19	40364196	40364196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctggcccacactcacagcGccgctcacactcagggcccg	9	20	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40364196G>A	ENST00000221347.6	-	31	14453	c.14446C>T	c.(14446-14448)Cgc>Tgc	p.R4816C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4816						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTCACAGCGCCGCTCACAC	0.662																																																	0													31	34	33					19																	40364196		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14446C>T	19.37:g.40364196G>A	ENSP00000221347:p.Arg4816Cys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R4816C	ENST00000221347.6	37	c.14446	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314143	0.23908	.	.	ENSG00000090920	ENST00000221347	T	0.05382	3.45	5.04	1.63	0.23807	.	0.624433	0.14643	U	0.307064	T	0.16769	0.0403	M	0.80847	2.515	0.35075	D	0.762886	D	0.76494	0.999	P	0.57846	0.828	T	0.16335	-1.0406	10	0.51188	T	0.08	.	5.1837	0.15173	0.2373:0.0:0.6203:0.1423	.	4816	Q9Y6R7	FCGBP_HUMAN	C	4816	ENSP00000221347:R4816C	ENSP00000221347:R4816C	R	-	1	0	FCGBP	45056036	0.000000	0.05858	0.783000	0.31826	0.302000	0.27658	-0.061000	0.11693	0.240000	0.21263	0.313000	0.20887	CGC	FCGBP	-	smart_VWC_out		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40364196	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.807	A	A	40364196	G	A	40364196	3	1	160	1	0	0	0	0	1	0	0	0	5796	1087	38	2	1795	2	FCGBP	19	40364196	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	45091	40364196	18764787	2016	30289										
FCGBP	8857	genome.wustl.edu	37	chr19	40434171	40434171	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggctgtgaggaattcctctCtgccagtgttcttgaggtcc	12	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40434171C>T	ENST00000221347.6	-	2	105	c.98G>A	c.(97-99)aGa>aAa	p.R33K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	33	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAATTCCTCTCTGCCAGTGTT	0.537																																																	0													65	60	61					19																	40434171		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.98G>A	19.37:g.40434171C>T	ENSP00000221347:p.Arg33Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R33K	ENST00000221347.6	37	c.98	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908048	0.02434	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	3.98	2.94	0.34122	.	0.209757	0.26991	U	0.021469	T	0.10508	0.0257	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.24728	-1.0152	10	0.27082	T	0.32	.	9.6256	0.39748	0.0:0.8979:0.0:0.1021	.	33	Q9Y6R7	FCGBP_HUMAN	K	33	ENSP00000221347:R33K	ENSP00000221347:R33K	R	-	2	0	FCGBP	45126011	0.305000	0.24481	0.009000	0.14445	0.002000	0.02628	3.406000	0.52637	1.255000	0.44051	0.655000	0.94253	AGA	FCGBP	-	NULL		0.537	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40434171	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.028	T	T	40434171	C	T	40434171	3	4	160	1	0	0	0	0	1	0	0	0	5796	913	32	1	16259	1	FCGBP	19	40434171	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	69975	40434171	18694812	2017	30290										
MAP3K10	4294	genome.wustl.edu	37	chr19	40698542	40698542	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgctggtcaactgggctgtgCaggtggcccggggcatgaac	17	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40698542C>G	ENST00000253055.3	+	1	892	c.604C>G	c.(604-606)Cag>Gag	p.Q202E	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTGGGCTGTGCAGGTGGCCCG	0.612																																																	0													48	42	44					19																	40698542		2203	4300	6503	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.604C>G	19.37:g.40698542C>G	ENSP00000253055:p.Gln202Glu		Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q202E	ENST00000253055.3	37	c.604	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544698	0.86022	.	.	ENSG00000130758	ENST00000253055	D	0.94576	-3.46	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	L	0.35249	1.045	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	D	0.94789	0.7960	10	0.45353	T	0.12	.	15.6819	0.77376	0.0:1.0:0.0:0.0	.	202	Q02779	M3K10_HUMAN	E	202	ENSP00000253055:Q202E	ENSP00000253055:Q202E	Q	+	1	0	MAP3K10	45390382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.643000	0.83403	2.565000	0.86533	0.561000	0.74099	CAG	MAP3K10	-	pirsf_MAPKKK9/10/11,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,pfscan_Prot_kinase_cat_dom		0.612	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	C	NM_002446		40698542	1	no_errors	ENST00000253055	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40698542	C	G	40698542	3	3	160	1	0	0	0	0	1	0	0	0	9267	711	25	4	606	4	MAP3K10	19	40698542	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	264371	40698542	18430441	2018	30291										
PRX	57716	genome.wustl.edu	37	chr19	40901379	40901380	+	Missense_Mutation	DNP	GG	GG	AA													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggagtgagatggcaaatttGgataccttcagcttggtagc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:40901379_40901380GG>AA	ENST00000324001.7	-	7	3149_3150	c.2879_2880CC>TT	c.(2878-2880)tCC>tTT	p.S960F	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	960					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAAATTTGGATACCTTCAG	0.614																																																	0																																										SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2879_2880delinsAA	19.37:g.40901379_40901380delinsAA	ENSP00000326018:p.Ser960Phe		Q9BXL9|Q9HCF2	Silent|Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S960|p.S960F	ENST00000324001.7	37	c.2880|c.2879	CCDS33028.1	19																																																																																			PRX	-	NULL		0.614	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	G	NM_020956		40901379|40901380	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	silent|missense	SNP	1.000	A	AA	40901380	GG	AA	40901379	3	1	160	1	0	0	0	0	1	0	0	0	12669	1335	47	4	1509	4	PRX	19	40901379	Missense_Mutation	DNP	GG	TCGA-JW-A5VL-01A-11D-A28B-09	202837	40901379	18227604	2019	30292										
CYP2A7	1549	genome.wustl.edu	37	chr19	41388019	41388019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggggtgggtcccggaggcaGcttccccctgctcttcctct	13	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:41388019G>C	ENST00000301146.4	-	1	638	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L33V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	33						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGGAGGCAGCTTCCCCCTG	0.582																																																	0													92	76	81					19																	41388019		2203	4300	6503	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.97C>G	19.37:g.41388019G>C	ENSP00000301146:p.Leu33Val		Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.L33V	ENST00000301146.4	37	c.97	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354947	0.41700	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.14766	4.85;2.48	2.33	-1.79	0.07932	.	0.110508	0.39210	U	0.001423	T	0.23370	0.0565	M	0.73217	2.22	0.23132	N	0.99825	D;P	0.54047	0.964;0.479	P;B	0.60789	0.879;0.308	T	0.08371	-1.0725	10	0.87932	D	0	.	3.7918	0.08724	0.2433:0.0:0.5682:0.1885	.	33;33	F8W816;P20853	.;CP2A7_HUMAN	V	33	ENSP00000301146:L33V;ENSP00000291764:L33V	ENSP00000291764:L33V	L	-	1	2	CYP2A7	46079859	0.199000	0.23386	0.120000	0.21714	0.169000	0.22640	0.330000	0.19715	-0.471000	0.06891	0.184000	0.17185	CTG	CYP2A7	-	superfamily_Cyt_P450		0.582	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	G	NM_030589		41388019	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	0.718	C	C	41388019	G	C	41388019	3	2	160	1	0	0	0	0	1	0	0	0	4168	962	34	4	1433	4	CYP2A7	19	41388019	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	486640	41388019	17740964	2020	30293										
CEACAM6	4680	genome.wustl.edu	37	chr19	42259575	42259575	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccctcagcccctccctgcaGattgcatgtcccctggaagg	9	18	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:42259575G>A	ENST00000199764.6	+	1	247	c.29G>A	c.(28-30)aGa>aAa	p.R10K	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	10					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCTCCCTGCAGATTGCATGTC	0.612																																																	0													87	82	83					19																	42259575		2203	4300	6503	SO:0001583	missense	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.29G>A	19.37:g.42259575G>A	ENSP00000199764:p.Arg10Lys		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R10K	ENST00000199764.6	37	c.29	CCDS12585.1	19	.	.	.	.	.	.	.	.	.	.	G	6.221	0.408872	0.11812	.	.	ENSG00000086548	ENST00000199764	T	0.19806	2.12	1.49	-1.13	0.09775	.	.	.	.	.	T	0.14743	0.0356	L	0.48260	1.515	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.36065	-0.9763	9	0.21014	T	0.42	.	4.4396	0.11568	0.4054:0.0:0.5946:0.0	.	10	P40199	CEAM6_HUMAN	K	10	ENSP00000199764:R10K	ENSP00000199764:R10K	R	+	2	0	CEACAM6	46951415	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.007000	0.13174	-0.203000	0.10251	-0.704000	0.03662	AGA	CEACAM6	-	NULL		0.612	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM6	HGNC	protein_coding	OTTHUMT00000321147.1	G			42259575	1	no_errors	ENST00000199764	ensembl	human	known	70_37	missense	SNP	0.003	A	A	42259575	G	A	42259575	3	1	160	1	0	0	0	0	1	0	0	0	3201	942	33	1	31	1	CEACAM6	19	42259575	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	871556	42259575	16869408	2021	30294										
RPS19	6223	genome.wustl.edu	37	chr19	42365220	42365220	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgaatgggtggataccgtCaagctggccaagcacaaaga	12	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:42365220C>A	ENST00000598742.1	+	3	483	c.111C>A	c.(109-111)gtC>gtA	p.V37V	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Silent_p.V37V	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	37					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						TGGATACCGTCAAGCTGGCCA	0.532									Diamond-Blackfan Anemia																																								0													96	84	88					19																	42365220		2203	4300	6503	SO:0001819	synonymous_variant	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.111C>A	19.37:g.42365220C>A				Silent	SNP	pfam_Ribosomal_S19e	p.V37	ENST00000598742.1	37	c.111	CCDS12588.1	19																																																																																			RPS19	-	pfam_Ribosomal_S19e		0.532	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	C	NM_001022		42365220	1	no_errors	ENST00000593863	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42365220	C	A	42365220	2	1	160	1	0	0	0	0	0	0	0	1	13659	813	29	3		3	RPS19	19	42365220	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	105645	42365220	16763763	2022	30295										
CIC	23152	genome.wustl.edu	37	chr19	42795012	42795012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccccacctctggccgggctGaggcgtctccaaatgacaca	10	16	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:42795012G>A	ENST00000575354.2	+	10	2132	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	CIC_ENST00000160740.3_Missense_Mutation_p.E698K|CIC_ENST00000572681.2_Missense_Mutation_p.E1607K	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	698	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGCCGGGCTGAGGCGTCTCC	0.642			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													17	16	16					19																	42795012		2195	4289	6484	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2092G>A	19.37:g.42795012G>A	ENSP00000458663:p.Glu698Lys		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E698K	ENST00000575354.2	37	c.2092	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202251	0.38905	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.21822	N	0.999521	P	0.51057	0.941	B	0.40477	0.33	T	0.11665	-1.0578	8	0.87932	D	0	-14.6421	14.2525	0.66028	0.0:0.0:1.0:0.0	.	698	Q96RK0	CIC_HUMAN	K	698	.	ENSP00000160740:E698K	E	+	1	0	CIC	47486852	0.999000	0.42202	0.273000	0.24645	0.947000	0.59692	3.043000	0.49823	2.432000	0.82394	0.491000	0.48974	GAG	CIC	-	NULL		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42795012	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	0.471	A	A	42795012	G	A	42795012	3	1	160	1	0	0	0	0	1	0	0	0	3429	1291	45	1	2130	1	CIC	19	42795012	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	429792	42795012	16333971	2023	30296										
PSG6	5675	genome.wustl.edu	37	chr19	43414888	43414888	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgagtcatagggaggttctGaccattcagcaaccacaggt	12	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:43414888G>C	ENST00000292125.2	-	3	594	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	PSG6_ENST00000187910.2_Missense_Mutation_p.Q184E|PSG6_ENST00000402603.4_Missense_Mutation_p.Q184E	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	184	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q184E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGGTTCTGACCATTCAGC	0.498																																																	1	Substitution - Missense(1)	lung(1)											222	222	222					19																	43414888		2201	4299	6500	SO:0001583	missense	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.550C>G	19.37:g.43414888G>C	ENSP00000292125:p.Gln184Glu		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q184E	ENST00000292125.2	37	c.550	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	5.054	0.195572	0.09599	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.11495	2.77;2.77;2.77	1.64	0.483	0.16820	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15739	0.0379	L	0.43598	1.365	0.09310	N	1	P;P;P	0.42337	0.776;0.686;0.729	B;B;P	0.55713	0.314;0.396;0.782	T	0.20773	-1.0265	9	0.36615	T	0.2	.	4.1427	0.10201	0.2412:0.0:0.7588:0.0	.	184;184;184	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	E	184	ENSP00000187910:Q184E;ENSP00000385736:Q184E;ENSP00000292125:Q184E	ENSP00000187910:Q184E	Q	-	1	0	PSG6	48106728	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.095000	0.11077	0.026000	0.15269	0.194000	0.17425	CAG	PSG6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	G	NM_002782		43414888	-1	no_errors	ENST00000292125	ensembl	human	known	70_37	missense	SNP	0.001	C	C	43414888	G	C	43414888	3	2	160	1	0	0	0	0	1	0	0	0	12686	1299	45	1	812	1	PSG6	19	43414888	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	619876	43414888	15714095	2024	30297										
IRGQ	126298	genome.wustl.edu	37	chr19	44097210	44097210	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggtggcagtgcccgtgtgGcccagaggcacggtccagag	18	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:44097210G>C	ENST00000602269.1	-	2	1025	c.840C>G	c.(838-840)ggC>ggG	p.G280G	IRGQ_ENST00000601520.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.G280G			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	280	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TGCCCGTGTGGCCCAGAGGCA	0.711																																																	0													25	26	26					19																	44097210		2202	4298	6500	SO:0001819	synonymous_variant	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.840C>G	19.37:g.44097210G>C			B2RNP3	Silent	SNP	NULL	p.G280	ENST00000602269.1	37	c.840	CCDS33040.1	19																																																																																			IRGQ	-	NULL		0.711	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	G	NM_001007561		44097210	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	silent	SNP	0.005	C	C	44097210	G	C	44097210	2	2	160	1	0	0	0	0	0	0	0	1	7859	1190	42	4		4	IRGQ	19	44097210	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	682322	44097210	15031773	2025	30298										
ZNF45	7596	genome.wustl.edu	37	chr19	44418649	44418649	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagtcgtgaacgccaactGaagctcttcccacactcttc	7	15	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:44418649G>A	ENST00000269973.5	-	10	2029	c.939C>T	c.(937-939)ttC>ttT	p.F313F	ZNF45_ENST00000589703.1_Silent_p.F313F|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	313					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AACGCCAACTGAAGCTCTTCC	0.468																																																	0													89	73	78					19																	44418649		2203	4300	6503	SO:0001819	synonymous_variant	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.939C>T	19.37:g.44418649G>A			P17016|P78472|Q9P1U9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F313	ENST00000269973.5	37	c.939	CCDS12632.1	19																																																																																			ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	G	NM_003425		44418649	-1	no_errors	ENST00000269973	ensembl	human	known	70_37	silent	SNP	0.620	A	A	44418649	G	A	44418649	2	1	160	1	0	0	0	0	0	0	0	1	17951	1281	45	1		1	ZNF45	19	44418649	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	321439	44418649	14710334	2026	30299										
PVRL2	5819	genome.wustl.edu	37	chr19	45391612	45391612	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taccagggcaaaggctttgtCatgtcccgggccatgtatgt	12	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:45391612C>A	ENST00000252483.5	+	9	1593	c.1593C>A	c.(1591-1593)gtC>gtA	p.V531V	CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000592434.1_5'Flank|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000426677.2_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	531					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		AAGGCTTTGTCATGTCCCGGG	0.542																																																	0													87	81	83					19																	45391612		1983	4164	6147	SO:0001819	synonymous_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1593C>A	19.37:g.45391612C>A			A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V531	ENST00000252483.5	37	c.1593	CCDS42576.1	19																																																																																			PVRL2	-	NULL		0.542	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	C	NM_002856		45391612	1	no_errors	ENST00000252483	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45391612	C	A	45391612	2	1	160	1	0	0	0	0	0	0	0	1	12870	813	29	3		3	PVRL2	19	45391612	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	972963	45391612	13737371	2027	30300										
RELB	5971	genome.wustl.edu	37	chr19	45532204	45532204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacaaggaaagcgggccgtgCaccggtggcgaggagctcta	16	10	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:45532204C>T	ENST00000221452.8	+	8	1095	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RELB_ENST00000540120.1_Silent_p.C315C|RELB_ENST00000505236.1_Silent_p.C312C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	315	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGCCGTGCACCGGTGGCG	0.552																																																	0													27	28	28					19																	45532204		1932	4134	6066	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.945C>T	19.37:g.45532204C>T			Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.C315	ENST00000221452.8	37	c.945	CCDS46110.1	19																																																																																			RELB	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.552	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	C			45532204	1	no_errors	ENST00000221452	ensembl	human	known	70_37	silent	SNP	0.913	T	T	45532204	C	T	45532204	2	4	160	1	0	0	0	0	0	0	0	1	13247	718	25	4		4	RELB	19	45532204	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	140592	45532204	13596779	2028	30301										
PPP1R13L	10848	genome.wustl.edu	37	chr19	45895303	45895303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccccccatgacgatggaaGaggcggctgatgatctgctg	15	11	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:45895303G>A	ENST00000418234.2	-	8	1728	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	PPP1R13L_ENST00000360957.5_Silent_p.L550L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	550	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GACGATGGAAGAGGCGGCTGA	0.692																																					Pancreas(61;1447 1663 31419 50578)												0													38	46	43					19																	45895303		2203	4299	6502	SO:0001819	synonymous_variant	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1650C>T	19.37:g.45895303G>A			Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.L550	ENST00000418234.2	37	c.1650	CCDS33050.1	19																																																																																			PPP1R13L	-	NULL		0.692	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	G	NM_006663		45895303	-1	no_errors	ENST00000360957	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45895303	G	A	45895303	2	1	160	1	0	0	0	0	0	0	0	1	12385	929	33	1		1	PPP1R13L	19	45895303	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	363099	45895303	13233680	2029	30302										
OPA3	7408	genome.wustl.edu	37	chr19	46032593	46032593	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcaggcggtgatgaagatGatgccctcgcccagcagctc	13	13	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46032593G>A	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Silent_p.I88I	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TGATGAAGATGATGCCCTCGC	0.637																																																	0													60	62	61					19																	46032593		2202	4300	6502	SO:0001628	intergenic_variant	80207				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032593G>A			B2RBT9|Q6PIZ1|Q93035	Silent	SNP	pfam_OPA3-like	p.I88	ENST00000245932.6	37	c.264	CCDS33051.1	19																																																																																			OPA3	-	pfam_OPA3-like		0.637	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459589.1	G			46032593	-1	no_errors	ENST00000323060	ensembl	human	known	70_37	silent	SNP	1.000	A	A	46032593	G	A	46032593	1	1	160	0	1	0	0	0	0	0	0	0	10896	1280	45	1		1	OPA3	19	46032593	IGR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	137290	46032593	13096390	2030	30303										
SIX5	147912	genome.wustl.edu	37	chr19	46270163	46270163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggcccaggctggaggcctCgcccagggccaggccgttga	17	15	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46270163C>G	ENST00000317578.6	-	2	1435	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	352					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTGGAGGCCTCGCCCAGGGCC	0.716																																																	0													4	5	5					19																	46270163		2029	4007	6036	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1054G>C	19.37:g.46270163C>G	ENSP00000316842:p.Glu352Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E352Q	ENST00000317578.6	37	c.1054	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	19.02	3.746177	0.69418	.	.	ENSG00000177045	ENST00000317578	D	0.90732	-2.72	4.51	4.51	0.55191	.	0.428400	0.20548	N	0.090166	D	0.90817	0.7116	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.90639	0.4573	10	0.41790	T	0.15	-15.6909	14.6901	0.69080	0.0:1.0:0.0:0.0	.	352	Q8N196	SIX5_HUMAN	Q	352	ENSP00000316842:E352Q	ENSP00000316842:E352Q	E	-	1	0	SIX5	50962003	1.000000	0.71417	0.961000	0.40146	0.950000	0.60333	2.222000	0.42926	2.043000	0.60533	0.561000	0.74099	GAG	SIX5	-	NULL		0.716	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46270163	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46270163	C	G	46270163	3	3	160	1	0	0	0	0	1	0	0	0	14380	893	31	1	1173	1	SIX5	19	46270163	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	237570	46270163	12858820	2031	30304										
IRF2BP1	26145	genome.wustl.edu	37	chr19	46388059	46388059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcccagctgccgccattctCctgatccatgccggcgttca	9	18	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:46388059C>T	ENST00000302165.3	-	1	1317	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCGCCATTCTCCTGATCCATG	0.667																																																	0													21	27	25					19																	46388059		2199	4295	6494	SO:0001583	missense	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.974G>A	19.37:g.46388059C>T	ENSP00000307265:p.Gly325Glu		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.G325E	ENST00000302165.3	37	c.974	CCDS12678.1	19	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434560	0.62955	.	.	ENSG00000170604	ENST00000302165	T	0.20738	2.05	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000003	T	0.42966	0.1226	L	0.59436	1.845	0.54753	D	0.999987	D	0.76494	0.999	D	0.87578	0.998	T	0.35201	-0.9798	10	0.87932	D	0	.	15.0928	0.72207	0.0:1.0:0.0:0.0	.	325	Q8IU81	I2BP1_HUMAN	E	325	ENSP00000307265:G325E	ENSP00000307265:G325E	G	-	2	0	IRF2BP1	51079899	0.991000	0.36638	0.916000	0.36221	0.888000	0.51559	3.415000	0.52700	2.406000	0.81754	0.555000	0.69702	GGA	IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.667	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	C	NM_015649		46388059	-1	no_errors	ENST00000302165	ensembl	human	known	70_37	missense	SNP	0.998	T	T	46388059	C	T	46388059	3	4	160	1	0	0	0	0	1	0	0	0	7849	855	30	1	784	1	IRF2BP1	19	46388059	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	117896	46388059	12740924	2032	30305										
C5AR1	728	genome.wustl.edu	37	chr19	47823375	47823375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcctgcagcatcctgccctCcctcatcctgctcaacatgt	6	19	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:47823375C>T	ENST00000355085.3	+	2	363	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	114					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ATCCTGCCCTCCCTCATCCTG	0.607																																																	0													75	69	71					19																	47823375		2203	4300	6503	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.341C>T	19.37:g.47823375C>T	ENSP00000347197:p.Ser114Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.S114F	ENST00000355085.3	37	c.341	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627799	0.46944	.	.	ENSG00000197405	ENST00000355085	T	0.30714	1.52	4.67	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.353251	0.28257	U	0.016004	T	0.46132	0.1377	L	0.43757	1.38	0.34289	D	0.68302	D	0.89917	1.0	D	0.85130	0.997	T	0.58132	-0.7690	10	0.44086	T	0.13	.	13.7859	0.63110	0.0:0.8447:0.1553:0.0	.	114	P21730	C5AR_HUMAN	F	114	ENSP00000347197:S114F	ENSP00000347197:S114F	S	+	2	0	C5AR1	52515215	0.002000	0.14202	0.504000	0.27639	0.233000	0.25261	1.663000	0.37429	0.940000	0.37473	0.478000	0.44815	TCC	C5AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt		0.607	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	C	NM_001736		47823375	1	no_errors	ENST00000355085	ensembl	human	known	70_37	missense	SNP	0.850	T	T	47823375	C	T	47823375	3	4	160	1	0	0	0	0	1	0	0	0	2286	855	30	1	346	1	C5AR1	19	47823375	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1435316	47823375	11305608	2033	30306										
MEIS3	56917	genome.wustl.edu	37	chr19	47910702	47910702	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgctgcagccaccagcaaGagtcactctgcctgcctggc	12	15	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:47910702G>A	ENST00000558555.1	-	9	1046				MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000331559.5_Missense_Mutation_p.S310F|MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000559524.1_Missense_Mutation_p.S327F|MEIS3_ENST00000561293.1_Missense_Mutation_p.S327F|MEIS3_ENST00000560253.1_Intron			Q99687	MEIS3_HUMAN	Meis homeobox 3						negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCACCAGCAAGAGTCACTCTG	0.667																																																	0													35	35	35					19																	47910702		2202	4296	6498	SO:0001627	intron_variant	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.859-17C>T	19.37:g.47910702G>A			A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S327F	ENST00000558555.1	37	c.980		19	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203243	0.58234	.	.	ENSG00000105419	ENST00000331559	.	.	.	3.82	1.64	0.23874	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.20196	N	0.99992	B	0.11235	0.004	B	0.12156	0.007	T	0.23547	-1.0185	8	0.87932	D	0	-7.4243	8.1604	0.31196	0.2092:0.0:0.7908:0.0	.	327	Q99687-2	.	F	327	.	ENSP00000333552:S327F	S	-	2	0	MEIS3	52602514	1.000000	0.71417	0.840000	0.33206	0.862000	0.49288	2.432000	0.44784	0.573000	0.29400	0.491000	0.48974	TCT	MEIS3	-	smart_Homeodomain		0.667	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	G	XM_085929		47910702	-1	no_errors	ENST00000559524	ensembl	human	known	70_37	missense	SNP	0.944	A	A	47910702	G	A	47910702	1	1	160	0	1	0	0	0	0	0	0	0	9492	942	33	1		1	MEIS3	19	47910702	Intron	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	87327	47910702	11218281	2034	30307										
SLC8A2	6543	genome.wustl.edu	37	chr19	47941204	47941204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctccgagcctcctcctcctCggctgttagcttcctgtccc	7	20	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:47941204C>T	ENST00000236877.6	-	7	2307	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.E394K|SLC8A2_ENST00000539381.1_Missense_Mutation_p.E101K	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	638	Poly-Glu.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.E638K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCTCCTCCTCGGCTGTTAGC	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)											107	106	106					19																	47941204		2203	4300	6503	SO:0001583	missense	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1912G>A	19.37:g.47941204C>T	ENSP00000236877:p.Glu638Lys		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.E638K	ENST00000236877.6	37	c.1912	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950364	0.18431	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.27890	1.64;1.64;1.64	2.54	1.5	0.22942	.	0.000000	0.64402	U	0.000003	T	0.18551	0.0445	N	0.13371	0.34	0.53005	D	0.999962	B;D	0.67145	0.006;0.996	B;P	0.48089	0.005;0.566	T	0.03566	-1.1024	10	0.13853	T	0.58	.	9.1717	0.37086	0.0:0.8807:0.0:0.1193	.	466;638	E9PGS7;Q9UPR5	.;NAC2_HUMAN	K	466;638;101;394	ENSP00000236877:E638K;ENSP00000440588:E101K;ENSP00000437536:E394K	ENSP00000236877:E638K	E	-	1	0	SLC8A2	52633016	0.932000	0.31603	0.939000	0.37840	0.678000	0.39670	2.049000	0.41288	0.649000	0.30751	-0.464000	0.05259	GAG	SLC8A2	-	tigrfam_Na_Ca_Ex		0.562	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	C			47941204	-1	no_errors	ENST00000236877	ensembl	human	known	70_37	missense	SNP	0.997	T	T	47941204	C	T	47941204	3	4	160	1	0	0	0	0	1	0	0	0	14737	893	31	1	869	1	SLC8A2	19	47941204	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	30502	47941204	11187779	2035	30308										
NTF4	4909	genome.wustl.edu	37	chr19	49565222	49565222	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggaggaggaaaaggaggagGatggggagggagcatgaggg	25	1	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:49565222G>C	ENST00000593537.1	-	1	32	c.33C>G	c.(31-33)atC>atG	p.I11M	NTF4_ENST00000594938.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.I11M|CTB-60B18.12_ENST00000597865.1_RNA|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_De_novo_Start_OutOfFrame			P34130	NTF4_HUMAN	neurotrophin 4	11					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		aaaggaggaggatggggaggg	0.592																																																	0													12	13	13					19																	49565222		1863	3526	5389	SO:0001583	missense	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"Endogenous ligands"	8024	protein-coding gene	gene with protein product	"neurotrophic factor 4"	162662	"neurotrophin 5 (neurotrophin 4/5)"	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.33C>G	19.37:g.49565222G>C	ENSP00000469455:p.Ile11Met		Q6FH56	Missense_Mutation	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-4	p.I11M	ENST00000593537.1	37	c.33	CCDS12754.1	19	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572196	0.28092	.	.	ENSG00000167744	ENST00000301411	T	0.63744	-0.06	3.71	3.71	0.42584	.	0.407240	0.19024	N	0.124758	T	0.46014	0.1371	N	0.14661	0.345	0.25778	N	0.984765	B	0.20368	0.044	B	0.21917	0.037	T	0.48822	-0.9001	10	0.59425	D	0.04	-3.3641	13.2138	0.59844	0.0:0.0:1.0:0.0	.	11	P34130	NTF4_HUMAN	M	11	ENSP00000301411:I11M	ENSP00000301411:I11M	I	-	3	3	NTF4	54257034	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.646000	0.37249	2.030000	0.59900	0.313000	0.20887	ATC	NTF4	-	pirsf_Nerve_growth_factor-like		0.592	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NTF4	HGNC	protein_coding	OTTHUMT00000466258.1	G	NM_006179		49565222	-1	no_errors	ENST00000301411	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49565222	G	C	49565222	3	2	160	1	0	0	0	0	1	0	0	0	10721	1164	41	1	603	1	NTF4	19	49565222	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1624018	49565222	9563761	2036	30309										
HRC	3270	genome.wustl.edu	37	chr19	49658077	49658077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgagtcttccgtgtcttCactcccgtggcctctgtgcc	10	15	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:49658077C>T	ENST00000252825.4	-	1	604	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.E140K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	140	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCGTGTCTTCACTCCCGTGG	0.597																																					Melanoma(37;75 1097 24567 25669 30645)												0													176	128	144					19																	49658077		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.418G>A	19.37:g.49658077C>T	ENSP00000252825:p.Glu140Lys		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E140K	ENST00000252825.4	37	c.418	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674205	0.67928	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06687	3.27	2.6	2.6	0.31112	.	.	.	.	.	T	0.20901	0.0503	L	0.60845	1.875	0.25812	N	0.984381	D	0.76494	0.999	D	0.75484	0.986	T	0.07986	-1.0744	9	0.21014	T	0.42	-0.6964	11.3389	0.49520	0.0:1.0:0.0:0.0	.	140	P23327	SRCH_HUMAN	K	140;110	ENSP00000252825:E140K	ENSP00000252825:E140K	E	-	1	0	HRC	54349889	0.062000	0.20869	0.037000	0.18230	0.019000	0.09904	1.982000	0.40638	1.775000	0.52247	0.462000	0.41574	GAA	HRC	-	NULL		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49658077	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.342	T	T	49658077	C	T	49658077	3	4	160	1	0	0	0	0	1	0	0	0	7372	835	29	1	1705	1	HRC	19	49658077	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	92855	49658077	9470906	2037	30310										
PNKP	11284	genome.wustl.edu	37	chr19	50365331	50365331	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggacatatccggccgacacGaggtgcttcttgagaaaggt	13	9	1	1	rs373766090		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:50365331G>A	ENST00000322344.3	-	13	1267	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PNKP_ENST00000600910.1_Silent_p.L386L|PNKP_ENST00000596014.1_Silent_p.L386L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|PNKP_ENST00000600573.1_Silent_p.L355L|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	386	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CGGCCGACACGAGGTGCTTCT	0.592								Other BER factors																																									0													66	62	63					19																	50365331		2203	4300	6503	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1158C>T	19.37:g.50365331G>A			Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.L386	ENST00000322344.3	37	c.1158	CCDS12783.1	19																																																																																			PNKP	-	tigrfam_PNK_3Pase_met		0.592	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	G	NM_007254		50365331	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	0.294	A	A	50365331	G	A	50365331	2	1	160	1	0	0	0	0	0	0	0	1	12171	1045	37	1		1	PNKP	19	50365331	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	707254	50365331	8763652	2038	30311										
PNKP	11284	genome.wustl.edu	37	chr19	50365343	50365343	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccgacacgaggtgcttcttGagaaaggtggacttcccggc	14	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:50365343G>T	ENST00000322344.3	-	13	1255	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L	PNKP_ENST00000600910.1_Silent_p.L382L|PNKP_ENST00000596014.1_Silent_p.L382L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|PNKP_ENST00000600573.1_Silent_p.L351L|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	382	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGTGCTTCTTGAGAAAGGTGG	0.592								Other BER factors																																									0													65	60	62					19																	50365343		2203	4300	6503	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1146C>A	19.37:g.50365343G>T			Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.L382	ENST00000322344.3	37	c.1146	CCDS12783.1	19																																																																																			PNKP	-	tigrfam_PNK_3Pase_met		0.592	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	G	NM_007254		50365343	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50365343	G	T	50365343	2	4	160	1	0	0	0	0	0	0	0	1	12171	1277	45	3		3	PNKP	19	50365343	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	12	50365343	8763640	2039	30312										
KCNC3	3748	genome.wustl.edu	37	chr19	50827007	50827007	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctttggcggccttggagctGaggcccgagaggcccacctc	14	14	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:50827007G>C	ENST00000477616.1	-	2	1497	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Silent_p.L401L|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	401					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCTTGGAGCTGAGGCCCGAGA	0.612																																					Melanoma(91;1496 2324 50908)												0													84	82	83					19																	50827007		2203	4300	6503	SO:0001819	synonymous_variant	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1203C>G	19.37:g.50827007G>C				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.L401	ENST00000477616.1	37	c.1203	CCDS12793.1	19																																																																																			KCNC3	-	pfam_Ion_trans_dom		0.612	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	G	NM_004977		50827007	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	silent	SNP	1.000	C	C	50827007	G	C	50827007	2	2	160	1	0	0	0	0	0	0	0	1	8036	1277	45	1		1	KCNC3	19	50827007	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	461664	50827007	8301976	2040	30313										
ACPT	93650	genome.wustl.edu	37	chr19	51295547	51295547	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgggactgtcgctggttggaGagccactgcgcagggcatgg	18	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51295547G>A	ENST00000270593.1	+	6	598	c.598G>A	c.(598-600)Gag>Aag	p.E200K	ACPT_ENST00000270594.3_Missense_Mutation_p.E107K|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	200						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTGGTTGGAGAGCCACTGCG	0.647																																																	0													65	60	62					19																	51295547		2203	4300	6503	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.598G>A	19.37:g.51295547G>A	ENSP00000270593:p.Glu200Lys		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E107K	ENST00000270593.1	37	c.319	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	18.53	3.643831	0.67244	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76060	1.46;-0.99	4.4	4.4	0.53042	.	0.640556	0.14281	N	0.329556	T	0.67335	0.2882	L	0.28608	0.87	0.35170	D	0.77152	P	0.47545	0.897	P	0.48488	0.579	T	0.65438	-0.6168	10	0.06757	T	0.87	-21.6354	14.8387	0.70206	0.0:0.0:1.0:0.0	.	200	Q9BZG2	PPAT_HUMAN	K	200;107	ENSP00000270593:E200K;ENSP00000270594:E107K	ENSP00000270593:E200K	E	+	1	0	ACPT	55987359	0.999000	0.42202	0.997000	0.53966	0.910000	0.53928	3.891000	0.56227	2.177000	0.69029	0.455000	0.32223	GAG	ACPT	-	NULL		0.647	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51295547	1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51295547	G	A	51295547	3	1	160	1	0	0	0	0	1	0	0	0	168	943	33	1	620	1	ACPT	19	51295547	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	468540	51295547	7833436	2041	30314										
KLK3	354	genome.wustl.edu	37	chr19	51361728	51361728	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgtagtcttgaccccaaaGaaacttcagtgtgtggacct	9	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51361728G>C	ENST00000326003.2	+	4	548	c.507G>C	c.(505-507)aaG>aaC	p.K169N	KLK3_ENST00000593997.1_Missense_Mutation_p.K169N|KLK3_ENST00000597483.1_Missense_Mutation_p.K126N|KLK3_ENST00000360617.3_Missense_Mutation_p.K169N|KLK3_ENST00000595952.1_Missense_Mutation_p.K126N	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGACCCCAAAGAAACTTCAGT	0.552																																					Colon(185;1767 2023 13025 30120 37630)												0													204	178	187					19																	51361728		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.507G>C	19.37:g.51361728G>C	ENSP00000314151:p.Lys169Asn		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K169N	ENST00000326003.2	37	c.507	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	G	3.676	-0.066580	0.07273	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	D;D	0.88586	-2.4;-2.4	2.89	-4.28	0.03732	.	0.860837	0.09648	N	0.773970	T	0.71813	0.3384	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.15870	0.014;0.007;0.008	T	0.59053	-0.7526	10	0.51188	T	0.08	.	5.27	0.15620	0.0:0.4043:0.2591:0.3366	.	128;169;126	Q8NCW4;G3XAE3;G3V0H4	.;.;.	N	169;126;169;128	ENSP00000314151:K169N;ENSP00000353829:K169N	ENSP00000314151:K169N	K	+	3	2	KLK3	56053540	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.489000	0.00226	-0.409000	0.07553	0.400000	0.26472	AAG	KLK3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.552	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	G	NM_145864		51361728	1	no_errors	ENST00000326003	ensembl	human	known	70_37	missense	SNP	0.000	C	C	51361728	G	C	51361728	3	2	160	1	0	0	0	0	1	0	0	0	8425	933	33	1	525	1	KLK3	19	51361728	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	66181	51361728	7767255	2042	30315										
SIGLEC7	27036	genome.wustl.edu	37	chr19	51645837	51645837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actggttccgggcagggaatGatataagctggaaggctcca	14	8	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:51645837G>C	ENST00000317643.6	+	1	280	c.211G>C	c.(211-213)Gat>Cat	p.D71H	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.D71H|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.D71H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	71	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCAGGGAATGATATAAGCTG	0.577																																																	0													109	97	101					19																	51645837		2203	4300	6503	SO:0001583	missense	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.211G>C	19.37:g.51645837G>C	ENSP00000323328:p.Asp71His		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D71H	ENST00000317643.6	37	c.211	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	2.099	-0.406645	0.04832	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.65916	-0.18;-0.18;-0.18	2.77	-5.53	0.02552	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.031540	0.03073	N	0.157427	T	0.42063	0.1186	L	0.31526	0.94	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.12528	-1.0544	10	0.23891	T	0.37	.	1.444	0.02360	0.4217:0.2625:0.1838:0.132	.	71;71;71	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	H	71	ENSP00000323328:D71H;ENSP00000306757:D71H;ENSP00000437609:D71H	ENSP00000306757:D71H	D	+	1	0	SIGLEC7	56337649	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.245000	0.01192	-2.185000	0.00761	-1.409000	0.01127	GAT	SIGLEC7	-	pfam_Ig_V-set,smart_Ig_sub		0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	G	NM_016543		51645837	1	no_errors	ENST00000317643	ensembl	human	known	70_37	missense	SNP	0.000	C	C	51645837	G	C	51645837	3	2	160	1	0	0	0	0	1	0	0	0	14343	1290	45	1	213	1	SIGLEC7	19	51645837	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	284109	51645837	7483146	2043	30316										
SIGLEC5	8778	genome.wustl.edu	37	chr19	52115563	52115563	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctccctcgacttcatctcaGaaaaactaagggaggcataa	8	11	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52115563G>C	ENST00000534261.2	-	10	1976	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S526C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S526C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.S526C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S526C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	526					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S526Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCATCTCAGAAAAACTAAG	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											128	122	124					19																	52115563		2203	4300	6503	SO:0001583	missense	8778			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1577C>G	19.37:g.52115563G>C	ENSP00000473238:p.Ser526Cys			Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S526C	ENST00000534261.2	37	c.1577	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456687	0.26161	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.04970	3.52;3.52	3.36	-3.4	0.04853	.	.	.	.	.	T	0.04815	0.0130	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	P	0.45195	0.473	T	0.19811	-1.0294	9	0.66056	D	0.02	.	2.8978	0.05696	0.1459:0.1027:0.4818:0.2695	.	526	O15389	SIGL5_HUMAN	C	526	ENSP00000222107:S526C;ENSP00000415200:S526C	ENSP00000222107:S526C	S	-	2	0	SIGLEC5	56807375	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	-0.155000	0.10115	-0.901000	0.03891	-1.036000	0.02392	TCT	SIGLEC5	-	NULL		0.552	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	G	NM_003830		52115563	-1	no_errors	ENST00000222107	ensembl	human	known	70_37	missense	SNP	0.000	C	C	52115563	G	C	52115563	3	2	160	1	0	0	0	0	1	0	0	0	14341	942	33	1	82	1	SIGLEC5	19	52115563	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	469726	52115563	7013420	2044	30317										
ZNF577	84765	genome.wustl.edu	37	chr19	52376893	52376893	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacgcttgatatggaggcatGatctcccatatccaccaaat	7	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52376893G>C	ENST00000301399.5	-	7	715	c.350C>G	c.(349-351)tCa>tGa	p.S117*	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATGGAGGCATGATCTCCCATA	0.388																																																	0													85	79	81					19																	52376893		2203	4300	6503	SO:0001587	stop_gained	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.350C>G	19.37:g.52376893G>C	ENSP00000301399:p.Ser117*		A8K0B4|A8K6Z7|C9JFB9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S117*	ENST00000301399.5	37	c.350	CCDS12842.2	19	.	.	.	.	.	.	.	.	.	.	.	45	11.696850	0.99592	.	.	ENSG00000161551	ENST00000301399;ENST00000458390	.	.	.	2.53	0.334	0.15948	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.0653	0.14578	0.4346:0.0:0.5654:0.0	.	.	.	.	X	117	.	ENSP00000301399:S117X	S	-	2	0	ZNF577	57068705	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.420000	0.21263	0.147000	0.19030	0.467000	0.42956	TCA	ZNF577	-	NULL		0.388	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	G	NM_032679		52376893	-1	no_errors	ENST00000301399	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	52376893	G	C	52376893	4	2	160	1	0	0	0	0	0	1	0	0	18039	1294	45	1	1111	1	ZNF577	19	52376893	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	261330	52376893	6752090	2045	30318										
ZNF649	65251	genome.wustl.edu	37	chr19	52394042	52394042	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctcccttgagtgtattctCttatgtttaacaaggcaaga	7	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52394042C>G	ENST00000354957.3	-	5	1631	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N	ZNF577_ENST00000412216.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.K421N|ZNF577_ENST00000420592.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000451628.2_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGTATTCTCTTATGTTTAA	0.448																																																	0													192	186	188					19																	52394042		2203	4300	6503	SO:0001583	missense	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1347G>C	19.37:g.52394042C>G	ENSP00000347043:p.Lys449Asn		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K449N	ENST00000354957.3	37	c.1347	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516517	0.44763	.	.	ENSG00000198093	ENST00000354957	T	0.07688	3.17	2.63	0.303	0.15791	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	L	0.39898	1.24	0.09310	N	1	D	0.54207	0.965	P	0.47864	0.559	T	0.26780	-1.0093	9	0.87932	D	0	.	2.7221	0.05204	0.2114:0.4002:0.0:0.3883	.	449	Q9BS31	ZN649_HUMAN	N	449	ENSP00000347043:K449N	ENSP00000347043:K449N	K	-	3	2	ZNF649	57085854	0.000000	0.05858	0.006000	0.13384	0.156000	0.22039	-0.505000	0.06367	0.314000	0.23086	0.404000	0.27445	AAG	ZNF649	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	C	NM_023074		52394042	-1	no_errors	ENST00000354957	ensembl	human	known	70_37	missense	SNP	0.256	G	G	52394042	C	G	52394042	3	3	160	1	0	0	0	0	1	0	0	0	18094	912	32	1	174	1	ZNF649	19	52394042	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	17149	52394042	6734941	2046	30319										
ZNF613	79898	genome.wustl.edu	37	chr19	52443470	52443470	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcttattacaggaatcactGaccctggaggatgtggctgt	11	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52443470G>A	ENST00000293471.6	+	4	703	c.24G>A	c.(22-24)ctG>ctA	p.L8L	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGGAATCACTGACCCTGGAGG	0.443																																																	0													126	125	125					19																	52443470		2203	4300	6503	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.24G>A	19.37:g.52443470G>A			Q96SS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L8	ENST00000293471.6	37	c.24	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52443470	1	no_errors	ENST00000293471	ensembl	human	known	70_37	silent	SNP	0.308	A	A	52443470	G	A	52443470	2	1	160	1	0	0	0	0	0	0	0	1	18068	1277	45	1		1	ZNF613	19	52443470	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	49428	52443470	6685513	2047	30320										
ZNF615	284370	genome.wustl.edu	37	chr19	52498037	52498037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcactgtttcacactcttctGaatactttgattttgcaagt	6	9	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52498037G>C	ENST00000602063.1	-	6	641	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	ZNF615_ENST00000598071.1_Missense_Mutation_p.Q109E|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q109E|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q98E|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q103E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACACTCTTCTGAATACTTTGA	0.358																																																	0													61	56	58					19																	52498037		2203	4299	6502	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.292C>G	19.37:g.52498037G>C	ENSP00000473089:p.Gln98Glu		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q109E	ENST00000602063.1	37	c.325	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246356	0.22796	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07114	3.25;3.22	3.31	-1.75	0.08031	.	.	.	.	.	T	0.02193	0.0068	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.14012	0.005;0.009;0.009;0.005	B;B;B;B	0.11329	0.002;0.006;0.006;0.002	T	0.47005	-0.9150	9	0.13108	T	0.6	.	2.0917	0.03658	0.1209:0.3781:0.3085:0.1926	.	103;105;109;98	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	98;108;103;108	ENSP00000365906:Q98E;ENSP00000375672:Q103E	ENSP00000347019:Q108E	Q	-	1	0	ZNF615	57189849	0.000000	0.05858	0.000000	0.03702	0.420000	0.31355	-0.192000	0.09587	-0.103000	0.12175	0.655000	0.94253	CAG	ZNF615	-	NULL		0.358	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	G	NM_198480		52498037	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.000	C	C	52498037	G	C	52498037	3	2	160	1	0	0	0	0	1	0	0	0	18070	1299	45	1	1907	1	ZNF615	19	52498037	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	54567	52498037	6630946	2048	30321										
ZNF841	284371	genome.wustl.edu	37	chr19	52569952	52569952	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtagggtttgtctccagtatGaactgtctgatgagttgcaa	12	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52569952G>A	ENST00000426391.2	-	5	1386	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF841_ENST00000389534.4_Missense_Mutation_p.H395Y|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Missense_Mutation_p.H279Y|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.H395Y			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTCCAGTATGAACTGTCTGA	0.398																																																	0													109	100	103					19																	52569952		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.835C>T	19.37:g.52569952G>A	ENSP00000415453:p.His279Tyr		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H395Y	ENST00000426391.2	37	c.1183		19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604087	0.87157	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.67523	-0.27;-0.27;-0.27	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83238	0.5211	M	0.89534	3.04	0.30767	N	0.743433	D;D;P	0.89917	0.962;1.0;0.776	D;D;P	0.85130	0.912;0.997;0.751	T	0.81395	-0.0952	9	0.87932	D	0	.	11.597	0.50979	0.0:0.0:1.0:0.0	.	395;279;279	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Y	395;279;279	ENSP00000374185:H395Y;ENSP00000415453:H279Y;ENSP00000353060:H279Y	ENSP00000353060:H279Y	H	-	1	0	ZNF841	57261764	0.994000	0.37717	0.008000	0.14137	0.932000	0.56968	2.615000	0.46368	1.250000	0.43966	0.313000	0.20887	CAT	ZNF841	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52569952	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	missense	SNP	0.996	A	A	52569952	G	A	52569952	3	1	160	1	0	0	0	0	1	0	0	0	18219	1290	45	1	1595	1	ZNF841	19	52569952	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	71915	52569952	6559031	2049	30322										
ZNF836	162962	genome.wustl.edu	37	chr19	52658907	52658907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttagtgaggcttgaacgctGagtataggctttgccacaat	11	7	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52658907G>C	ENST00000322146.8	-	5	2550	c.2029C>G	c.(2029-2031)Cag>Gag	p.Q677E	ZNF836_ENST00000597252.1_Missense_Mutation_p.Q677E|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	677					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAACGCTGAGTATAGGCT	0.403																																																	0													95	104	101					19																	52658907		2154	4278	6432	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2029C>G	19.37:g.52658907G>C	ENSP00000325038:p.Gln677Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q677E	ENST00000322146.8	37	c.2029	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	g	3.472	-0.107777	0.06924	.	.	ENSG00000196267	ENST00000322146	T	0.07216	3.21	2.09	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.17872	0.535	0.09310	N	1	D	0.60160	0.987	P	0.48921	0.595	T	0.12760	-1.0535	9	0.29301	T	0.29	.	5.1309	0.14909	0.1333:0.1832:0.5691:0.1145	.	677	Q6ZNA1	ZN836_HUMAN	E	677	ENSP00000325038:Q677E	ENSP00000325038:Q677E	Q	-	1	0	ZNF836	57350719	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.248000	0.00541	-1.501000	0.01817	-0.494000	0.04653	CAG	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52658907	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.000	C	C	52658907	G	C	52658907	3	2	160	1	0	0	0	0	1	0	0	0	18217	1299	45	1	783	1	ZNF836	19	52658907	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	88955	52658907	6470076	2050	30323										
ZNF836	162962	genome.wustl.edu	37	chr19	52659714	52659714	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaaggtttgtttccactatGaactgtctgatgagttgcca	10	7	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:52659714G>A	ENST00000322146.8	-	5	1743	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	ZNF836_ENST00000597252.1_Missense_Mutation_p.H408Y|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTCCACTATGAACTGTCTGA	0.418																																																	0													111	117	115					19																	52659714		2190	4297	6487	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1222C>T	19.37:g.52659714G>A	ENSP00000325038:p.His408Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H408Y	ENST00000322146.8	37	c.1222	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959467	0.53400	.	.	ENSG00000196267	ENST00000322146	T	0.67523	-0.27	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84138	0.5406	H	0.94385	3.53	0.26302	N	0.977952	D	0.71674	0.998	D	0.77557	0.99	T	0.71971	-0.4431	9	0.87932	D	0	.	8.5199	0.33268	0.0:0.0:1.0:0.0	.	408	Q6ZNA1	ZN836_HUMAN	Y	408	ENSP00000325038:H408Y	ENSP00000325038:H408Y	H	-	1	0	ZNF836	57351526	1.000000	0.71417	0.006000	0.13384	0.124000	0.20399	4.809000	0.62591	0.951000	0.37770	0.305000	0.20034	CAT	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52659714	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.995	A	A	52659714	G	A	52659714	3	1	160	1	0	0	0	0	1	0	0	0	18217	1290	45	1	1590	1	ZNF836	19	52659714	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	807	52659714	6469269	2051	30324										
ZNF468	90333	genome.wustl.edu	37	chr19	53344528	53344528	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagtatgttttgccagatatGaattatatgcgaaagcctca	8	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53344528G>A	ENST00000595646.1	-	4	1139	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.S287L|ZNF468_ENST00000390651.4_Missense_Mutation_p.S287L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGCCAGATATGAATTATATGC	0.378																																																	0													123	127	126					19																	53344528		2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1019C>T	19.37:g.53344528G>A	ENSP00000470381:p.Ser340Leu		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S340L	ENST00000595646.1	37	c.1019	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	-	11.20	1.569326	0.28003	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.07908	3.15;3.15	1.99	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	M	0.69523	2.12	0.09310	N	1	P	0.43477	0.808	B	0.41412	0.356	T	0.11743	-1.0575	9	0.66056	D	0.02	.	9.4286	0.38595	0.0:0.6282:0.3718:0.0	.	340	Q5VIY5	ZN468_HUMAN	L	340;287;287;90	ENSP00000379690:S287L;ENSP00000445669:S287L	ENSP00000243639:S340L	S	-	2	0	ZNF468	58036340	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.797000	0.04570	0.129000	0.18514	0.471000	0.43371	TCA	ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	G	NM_001008801		53344528	-1	no_errors	ENST00000595646	ensembl	human	known	70_37	missense	SNP	0.000	A	A	53344528	G	A	53344528	3	1	160	1	0	0	0	0	1	0	0	0	17958	1294	45	1	553	1	ZNF468	19	53344528	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	684814	53344528	5784455	2052	30325										
ZNF321	399669	genome.wustl.edu	37	chr19	53432341	53432341	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgattaccaattttccattCaggctgaaatatgtggagtt	8	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53432341C>G	ENST00000391777.3	-	4	638	c.517G>C	c.(517-519)Gaa>Caa	p.E173Q	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000549216.1_Missense_Mutation_p.E104Q|ZNF816_ENST00000434371.2_Missense_Mutation_p.E173Q			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	104										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ATTTTCCATTCAGGCTGAAAT	0.398																																																	0													139	143	142					19																	53432341		2203	4300	6503	SO:0001583	missense	399669			AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"zinc finger protein 321"	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.517G>C	19.37:g.53432341C>G	ENSP00000375656:p.Glu173Gln		B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E173Q	ENST00000391777.3	37	c.517	CCDS56101.1	19	.	.	.	.	.	.	.	.	.	.	c	4.768	0.142825	0.09083	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.02472	4.28;5.58;5.58	1.78	-0.723	0.11181	.	.	.	.	.	T	0.03136	0.0092	L	0.49350	1.555	0.09310	N	1	B	0.34161	0.439	B	0.35727	0.209	T	0.42050	-0.9474	9	0.33940	T	0.23	.	4.2748	0.10804	0.0:0.595:0.0:0.405	.	104	Q8N8H1	ZN321_HUMAN	Q	104;173;173	ENSP00000449832:E104Q;ENSP00000438519:E173Q;ENSP00000375656:E173Q	ENSP00000375656:E173Q	E	-	1	0	ZNF321P;ZNF816	58124153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.354000	0.07681	-0.261000	0.09405	-1.404000	0.01136	GAA	ZNF321P	-	NULL		0.398	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF321P	HGNC	protein_coding	OTTHUMT00000396130.1	C	NR_037805		53432341	-1	no_errors	ENST00000391777	ensembl	human	known	70_37	missense	SNP	0.000	G	G	53432341	C	G	53432341	3	3	160	1	0	0	0	0	1	0	0	0	17870	835	29	1	188	1	ZNF321	19	53432341	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	87813	53432341	5696642	2053	30326										
ZNF347	84671	genome.wustl.edu	37	chr19	53644319	53644319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctctccagtatgaattccccGatgtcttgcaaggtgtgaat	9	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53644319G>A	ENST00000334197.7	-	5	1830	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	ZNF347_ENST00000452676.2_Missense_Mutation_p.R589W|ZNF347_ENST00000601469.2_Missense_Mutation_p.R589W|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGAATTCCCCGATGTCTTGCA	0.408																																					Melanoma(64;205 1597 17324 45721)												0													126	121	123					19																	53644319		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1762C>T	19.37:g.53644319G>A	ENSP00000334146:p.Arg588Trp		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R589W	ENST00000334197.7	37	c.1765	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670525	0.29693	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07688	3.17;3.17	3.01	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.45581	1.43	0.09310	N	1	B;B	0.31174	0.311;0.096	B;B	0.22601	0.04;0.02	T	0.35301	-0.9794	9	0.49607	T	0.09	.	0.7811	0.01041	0.2043:0.1402:0.2425:0.413	.	589;588	G5E9N4;Q96SE7	.;ZN347_HUMAN	W	588;589	ENSP00000334146:R588W;ENSP00000405218:R589W	ENSP00000334146:R588W	R	-	1	2	ZNF347	58336131	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.167000	0.09940	-0.526000	0.06383	-0.793000	0.03317	CGG	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	G	NM_032584		53644319	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	missense	SNP	0.003	A	A	53644319	G	A	53644319	3	1	160	1	0	0	0	0	1	0	0	0	17891	1057	37	1	761	1	ZNF347	19	53644319	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	211978	53644319	5484664	2054	30327										
ZNF665	79788	genome.wustl.edu	37	chr19	53669241	53669241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgattattaggagacttctCaacttgattgtattcataaa	6	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:53669241C>G	ENST00000600412.1	-	2	422	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.E168Q			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGAGACTTCTCAACTTGATTG	0.368																																																	0													117	125	123					19																	53669241		2148	4278	6426	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.307G>C	19.37:g.53669241C>G	ENSP00000469154:p.Glu103Gln		A8K5T8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E168Q	ENST00000600412.1	37	c.502		19	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606626	0.28623	.	.	ENSG00000197497	ENST00000396424	T	0.09255	3.0	1.84	0.788	0.18601	.	.	.	.	.	T	0.11110	0.0271	L	0.48174	1.505	0.09310	N	1	P	0.38767	0.646	B	0.41571	0.36	T	0.25257	-1.0137	9	0.32370	T	0.25	.	7.7147	0.28698	0.0:0.8542:0.0:0.1458	.	168	Q9H7R5-2	.	Q	168	ENSP00000379702:E168Q	ENSP00000379702:E168Q	E	-	1	0	ZNF665	58361053	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	0.745000	0.26259	0.337000	0.23665	-0.324000	0.08512	GAG	ZNF665	-	NULL		0.368	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	C	NM_024733		53669241	-1	no_errors	ENST00000396424	ensembl	human	known	70_37	missense	SNP	0.044	G	G	53669241	C	G	53669241	3	3	160	1	0	0	0	0	1	0	0	0	18103	835	29	1	1538	1	ZNF665	19	53669241	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	24922	53669241	5459742	2055	30328										
DPRX	503834	genome.wustl.edu	37	chr19	54140205	54140205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccaagcttccattctggctCtcctgcctgttcatctaacc	5	16	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:54140205C>G	ENST00000376650.1	+	3	590	c.539C>G	c.(538-540)tCt>tGt	p.S180C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CATTCTGGCTCTCCTGCCTGT	0.438																																																	0													112	109	110					19																	54140205		2203	4300	6503	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.539C>G	19.37:g.54140205C>G	ENSP00000365838:p.Ser180Cys			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S180C	ENST00000376650.1	37	c.539	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	c	3.923	-0.017717	0.07681	.	.	ENSG00000204595	ENST00000376650	D	0.94862	-3.54	1.45	0.196	0.15159	.	.	.	.	.	D	0.83571	0.5283	N	0.19112	0.55	0.09310	N	1	P	0.40180	0.705	B	0.22601	0.04	T	0.76637	-0.2886	9	0.62326	D	0.03	.	3.4936	0.07646	0.0:0.6762:0.0:0.3238	.	180	A6NFQ7	DPRX_HUMAN	C	180	ENSP00000365838:S180C	ENSP00000365838:S180C	S	+	2	0	DPRX	58832017	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	0.090000	0.17273	-0.367000	0.07326	TCT	DPRX	-	NULL		0.438	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	C	NM_001012728		54140205	1	no_errors	ENST00000376650	ensembl	human	known	70_37	missense	SNP	0.000	G	G	54140205	C	G	54140205	3	3	160	1	0	0	0	0	1	0	0	0	4748	913	32	1	549	1	DPRX	19	54140205	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	470964	54140205	4988778	2056	30329										
NLRP12	91662	genome.wustl.edu	37	chr19	54314501	54314501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attgcggtcttccatgagccGgaatttcctgcggacatagt	11	10	1	1	rs142971951	byFrequency	TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:54314501G>A	ENST00000324134.6	-	3	580	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	NLRP12_ENST00000391775.3_Missense_Mutation_p.R138W|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138W|NLRP12_ENST00000391772.1_Missense_Mutation_p.R138W|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138W|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138W|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138W|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138W	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCATGAGCCGGAATTTCCTG	0.552																																																	0								G	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	88	86	87		412	0.7	0.8	19	dbSNP_134	87	0,8600		0,0,4300	yes	missense	NLRP12	NM_144687.2	101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	138/1062	54314501	6,13000	2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.412C>T	19.37:g.54314501G>A	ENSP00000319377:p.Arg138Trp		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R138W	ENST00000324134.6	37	c.412	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313502	0.60414	0.001362	0.0	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.47	0.703	0.18116	.	0.192676	0.25601	N	0.029547	D	0.89441	0.6716	M	0.72894	2.215	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;P;P;P	0.56127	0.732;0.732;0.732;0.792	D	0.86130	0.1574	10	0.56958	D	0.05	.	4.8919	0.13731	0.0909:0.1456:0.6144:0.1491	.	138;138;138;138	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	W	138	ENSP00000319377:R138W;ENSP00000438030:R138W;ENSP00000340473:R138W;ENSP00000346231:R138W;ENSP00000375655:R138W;ENSP00000375653:R138W;ENSP00000375652:R138W	ENSP00000319377:R138W	R	-	1	2	NLRP12	59006313	0.000000	0.05858	0.836000	0.33094	0.845000	0.48019	0.131000	0.15870	0.427000	0.26145	0.306000	0.20318	CGG	NLRP12	-	NULL		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54314501	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	missense	SNP	0.794	A	A	54314501	G	A	54314501	3	1	160	1	0	0	0	0	1	0	0	0	10498	1115	39	2	2901	2	NLRP12	19	54314501	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	174296	54314501	4814482	2057	30330										
LENG8	94059	genome.wustl.edu	37	chr19	54972070	54972070	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcccggacaactccagcatcGactgccgcctcagcctggcg	11	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:54972070G>C	ENST00000333834.4	-	0	1914				LENG8_ENST00000326764.5_Missense_Mutation_p.D789H|LENG8_ENST00000376514.2_Missense_Mutation_p.D43H	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9								catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTCCAGCATCGACTGCCGCCT	0.716																																																	0													6	6	6					19																	54972070		2125	4170	6295	SO:0001628	intergenic_variant	114823			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273		19.37:g.54972070G>C			B2VAM3	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.D789H	ENST00000333834.4	37	c.2365	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908149	0.72868	.	.	ENSG00000167615	ENST00000326764;ENST00000376514	T	0.49720	0.77	3.63	3.63	0.41609	.	0.218072	0.36200	N	0.002734	T	0.65647	0.2711	.	.	.	0.24132	N	0.995764	D	0.89917	1.0	D	0.77004	0.989	T	0.57723	-0.7762	9	0.87932	D	0	.	13.5808	0.61901	0.0:0.0:1.0:0.0	.	789	Q96PV6-2	.	H	789;43	ENSP00000318374:D789H	ENSP00000318374:D789H	D	+	1	0	LENG8	59663882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.048000	0.76606	2.332000	0.79248	0.561000	0.74099	GAC	LENG8	-	NULL		0.716	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140806.3	G	NM_198988		54972070	1	no_errors	ENST00000326764	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54972070	G	C	54972070	1	2	160	0	1	0	0	0	0	0	0	0	8744	1058	37	1		1	LENG8	19	54972070	IGR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	657569	54972070	4156913	2058	30331										
LILRA2	11027	genome.wustl.edu	37	chr19	55086320	55086320	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcattctgtgtaaggaaggaGaagatgaacacccacaacgc	10	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55086320G>A	ENST00000251377.3	+	5	608	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.E159K|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.E159K|LILRA2_ENST00000391737.1_Missense_Mutation_p.E147K|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	159	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TAAGGAAGGAGAAGATGAACA	0.602																																																	0													187	169	175					19																	55086320		2203	4300	6503	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.475G>A	19.37:g.55086320G>A	ENSP00000251377:p.Glu159Lys		O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.E159K	ENST00000251377.3	37	c.475	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235338	0.39498	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00705	5.81;5.81;5.81;5.81;5.81	2.84	0.519	0.17035	Immunoglobulin-like fold (1);	0.790982	0.10958	N	0.615275	T	0.02012	0.0063	M	0.75884	2.315	0.29266	N	0.871004	B;D;P;D	0.53885	0.012;0.963;0.798;0.962	B;P;B;P	0.55345	0.013;0.774;0.37;0.587	T	0.41233	-0.9520	10	0.32370	T	0.25	.	3.8839	0.09090	0.1515:0.2534:0.5951:0.0	.	159;147;159;159	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	K	159;159;159;159;147	ENSP00000388131:E159K;ENSP00000251377:E159K;ENSP00000375618:E159K;ENSP00000251376:E159K;ENSP00000375617:E147K	ENSP00000251376:E159K	E	+	1	0	LILRA2	59778132	0.282000	0.24268	0.109000	0.21407	0.006000	0.05464	0.239000	0.18023	0.065000	0.16485	0.508000	0.49915	GAA	LILRA2	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	G			55086320	1	no_errors	ENST00000251377	ensembl	human	known	70_37	missense	SNP	0.374	A	A	55086320	G	A	55086320	3	1	160	1	0	0	0	0	1	0	0	0	8805	943	33	1	489	1	LILRA2	19	55086320	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	114250	55086320	4042663	2059	30332										
KIR2DL3	3804	genome.wustl.edu	37	chr19	55263963	55263963	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acacggaacttccaaatgctGagccctgatccaaagttgtc	8	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55263963G>C	ENST00000342376.3	+	8	1049	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	340					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCAAATGCTGAGCCCTGATC	0.517																																																	0													227	234	232					19																	55263963		2007	4009	6016	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.1018G>C	19.37:g.55263963G>C	ENSP00000342215:p.Glu340Gln		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E340Q	ENST00000342376.3	37	c.1018	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	g	4.512	0.094932	0.08681	.	.	ENSG00000243772	ENST00000342376	T	0.00477	7.14	0.909	-1.82	0.07857	.	.	.	.	.	T	0.01061	0.0035	M	0.86178	2.8	0.09310	N	1	D;P;P	0.54772	0.968;0.484;0.484	P;B;B	0.59546	0.859;0.424;0.424	T	0.21177	-1.0253	9	0.87932	D	0	.	6.337	0.21302	0.5547:0.0:0.4453:0.0	.	242;340;340	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	Q	340	ENSP00000342215:E340Q	ENSP00000342215:E340Q	E	+	1	0	KIR2DL3	59955775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.122000	0.03267	-2.079000	0.00871	-2.194000	0.00310	GAG	KIR2DL3	-	NULL		0.517	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	G			55263963	1	no_errors	ENST00000342376	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55263963	G	C	55263963	3	2	160	1	0	0	0	0	1	0	0	0	8337	1291	45	1	1048	1	KIR2DL3	19	55263963	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	177643	55263963	3865020	2060	30333										
NLRP2	55655	genome.wustl.edu	37	chr19	55508776	55508776	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgtcactctggacctgggtCagaatcccttggggtctagt	12	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55508776C>T	ENST00000543010.1	+	12	3114	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*	NLRP2_ENST00000263437.6_Nonsense_Mutation_p.Q988*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.Q991*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.Q967*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.Q968*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.Q969*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.Q967*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.Q969*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	991					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGACCTGGGTCAGAATCCCTT	0.542																																																	0													188	171	177					19																	55508776		2203	4300	6503	SO:0001587	stop_gained	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2971C>T	19.37:g.55508776C>T	ENSP00000445135:p.Gln991*		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q991*	ENST00000543010.1	37	c.2971	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.185063	0.98121	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	3.2	0.696	0.18075	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	3.0877	0.06283	0.2643:0.5841:0.0:0.1516	.	.	.	.	X	991;967;969;991;969;968;967;988	.	ENSP00000263437:Q988X	Q	+	1	0	NLRP2	60200588	0.000000	0.05858	0.268000	0.24571	0.258000	0.26162	-0.507000	0.06352	0.628000	0.30357	0.561000	0.74099	CAG	NLRP2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	C	NM_017852		55508776	1	no_errors	ENST00000448584	ensembl	human	known	70_37	nonsense	SNP	0.322	T	T	55508776	C	T	55508776	4	4	160	1	0	0	0	0	0	1	0	0	10501	827	29	1	3013	1	NLRP2	19	55508776	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	244813	55508776	3620207	2061	30334										
C19orf51	352909	genome.wustl.edu	37	chr19	55672075	55672075	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtcccccccggtggctctCgcgcgcccccaggcggccac	13	21	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55672075C>G	ENST00000524407.2	-	9	1014	c.981G>C	c.(979-981)gcG>gcC	p.A327A	DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000455045.1_Silent_p.A273A|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000527223.2_Silent_p.A395A|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000391720.4_Silent_p.A374A			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	327					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CGGTGGCTCTCGCGCGCCCCC	0.682											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	59	58					19																	55672075		1910	4113	6023	SO:0001819	synonymous_variant	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.981G>C	19.37:g.55672075C>G		1009	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.A395	ENST00000524407.2	37	c.1185	CCDS59422.1	19																																																																																			DNAAF3	-	NULL		0.682	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	C	NM_178837		55672075	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	silent	SNP	0.015	G	G	55672075	C	G	55672075	2	3	160	1	0	0	0	0	0	0	0	1	1938	871	31	1		1	C19orf51	19	55672075	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	163299	55672075	3456908	2062	30335										
SAPS1	22870	genome.wustl.edu	37	chr19	55743238	55743238	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggaggccctggggcacactGaggggcccctgtggggctgg	21	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55743238G>A	ENST00000412770.2	-	19	2804	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Silent_p.L746L	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	746	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						GGGGCACACTGAGGGGCCCCT	0.682																																																	0													10	12	12					19																	55743238		1896	4089	5985	SO:0001819	synonymous_variant	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2238C>T	19.37:g.55743238G>A			Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.L746	ENST00000412770.2	37	c.2238	CCDS46186.1	19																																																																																			PPP6R1	-	NULL		0.682	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1	G	NM_014931		55743238	-1	no_errors	ENST00000412770	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55743238	G	A	55743238	2	1	160	1	0	0	0	0	0	0	0	1	13866	1277	45	1		1	SAPS1	19	55743238	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	71163	55743238	3385745	2063	30336										
IL11	3589	genome.wustl.edu	37	chr19	55879861	55879861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttgcccttacctgtagagctCccagtgcccccgcactcatg	8	17	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:55879861C>T	ENST00000264563.2	-	3	319	c.257G>A	c.(256-258)gGa>gAa	p.G86E	IL11_ENST00000590625.1_Missense_Mutation_p.G7E|IL11_ENST00000585513.1_Missense_Mutation_p.G86E	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	86					B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|fat cell differentiation (GO:0045444)|megakaryocyte differentiation (GO:0030219)|negative regulation of hormone secretion (GO:0046888)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-11 receptor binding (GO:0005142)			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTGTAGAGCTCCCAGTGCCCC	0.637																																																	0													46	48	47					19																	55879861		2203	4300	6503	SO:0001583	missense	3589			X58377	CCDS12923.1, CCDS59423.1	19q13.3-q13.4	2014-01-30			ENSG00000095752	ENSG00000095752		"Interleukins and interleukin receptors", "Endogenous ligands"	5966	protein-coding gene	gene with protein product	"adipogenesis inhibitory factor", "oprelvekin"	147681				1386338	Standard	NM_001267718		Approved	IL-11, AGIF	uc002qks.2	P20809		ENST00000264563.2:c.257G>A	19.37:g.55879861C>T	ENSP00000264563:p.Gly86Glu		B4DQV5|Q96EB4	Missense_Mutation	SNP	pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian,prints_Interleukin-11	p.G86E	ENST00000264563.2	37	c.257	CCDS12923.1	19	.	.	.	.	.	.	.	.	.	.	c	13.04	2.118967	0.37436	.	.	ENSG00000095752	ENST00000264563	T	0.47869	0.83	3.87	3.87	0.44632	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.527331	0.18386	N	0.142802	T	0.47801	0.1465	N	0.14661	0.345	0.39725	D	0.97152	D	0.89917	1.0	D	0.77557	0.99	T	0.47661	-0.9100	10	0.42905	T	0.14	-11.1356	9.7712	0.40591	0.0:0.7891:0.2109:0.0	.	86	P20809	IL11_HUMAN	E	86	ENSP00000264563:G86E	ENSP00000264563:G86E	G	-	2	0	IL11	60571673	0.621000	0.27077	0.971000	0.41717	0.094000	0.18550	1.082000	0.30803	2.190000	0.69967	0.644000	0.83932	GGA	IL11	-	pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian		0.637	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	IL11	HGNC	protein_coding	OTTHUMT00000453027.1	C	NM_000641		55879861	-1	no_errors	ENST00000264563	ensembl	human	known	70_37	missense	SNP	0.979	T	T	55879861	C	T	55879861	3	4	160	1	0	0	0	0	1	0	0	0	7642	855	30	1	354	1	IL11	19	55879861	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	136623	55879861	3249122	2064	30337										
ZNF524	147807	genome.wustl.edu	37	chr19	56113740	56113740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggagcgacctcctcctgatcGatgatcagggtgtgccctat	12	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:56113740G>C	ENST00000591046.1	+	1	496	c.262G>C	c.(262-264)Gat>Cat	p.D88H	ZNF524_ENST00000301073.3_Missense_Mutation_p.D88H|FIZ1_ENST00000221665.3_5'Flank|FIZ1_ENST00000592585.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTCCTGATCGATGATCAGGG	0.687																																																	0													15	15	15					19																	56113740		2181	4274	6455	SO:0001583	missense	147807			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"Zinc fingers, C2H2-type"	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.262G>C	19.37:g.56113740G>C	ENSP00000466907:p.Asp88His		Q6NW31|Q96IL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D88H	ENST00000591046.1	37	c.262	CCDS12929.1	19	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604108	0.28534	.	.	ENSG00000171443	ENST00000301073	T	0.05996	3.36	3.19	3.19	0.36642	.	.	.	.	.	T	0.10337	0.0253	L	0.27053	0.805	0.35154	D	0.770063	D	0.89917	1.0	D	0.91635	0.999	T	0.02766	-1.1113	9	0.02654	T	1	.	11.7323	0.51744	0.0:0.0:1.0:0.0	.	88	Q96C55	ZN524_HUMAN	H	88	ENSP00000301073:D88H	ENSP00000301073:D88H	D	+	1	0	ZNF524	60805552	0.242000	0.23868	1.000000	0.80357	0.396000	0.30629	1.667000	0.37471	1.798000	0.52647	0.561000	0.74099	GAT	ZNF524	-	NULL		0.687	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF524	HGNC	protein_coding	OTTHUMT00000457938.1	G	NM_153219		56113740	1	no_errors	ENST00000301073	ensembl	human	known	70_37	missense	SNP	0.996	C	C	56113740	G	C	56113740	3	2	160	1	0	0	0	0	1	0	0	0	17996	1058	37	1	264	1	ZNF524	19	56113740	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	233879	56113740	3015243	2065	30338										
ZNF784	147808	genome.wustl.edu	37	chr19	56133131	56133131	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcagcctactggtcggcctCcaccttcaccttcgcggtct	9	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:56133131C>G	ENST00000325351.4	-	2	997	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	320					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGGTCGGCCTCCACCTTCACC	0.716																																																	0													31	32	32					19																	56133131		2203	4300	6503	SO:0001583	missense	147808			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.958G>C	19.37:g.56133131C>G	ENSP00000320096:p.Glu320Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E320Q	ENST00000325351.4	37	c.958	CCDS12930.1	19	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867228	0.51588	.	.	ENSG00000179922	ENST00000325351	T	0.09350	2.99	3.53	2.48	0.30137	.	0.783524	0.10433	N	0.675251	T	0.07324	0.0185	N	0.24115	0.695	0.53005	D	0.999962	B	0.30482	0.281	B	0.21917	0.037	T	0.21042	-1.0257	10	0.72032	D	0.01	-0.379	7.4411	0.27183	0.0:0.8704:0.0:0.1296	.	320	Q8NCA9	ZN784_HUMAN	Q	320	ENSP00000320096:E320Q	ENSP00000320096:E320Q	E	-	1	0	ZNF784	60824943	0.000000	0.05858	0.006000	0.13384	0.568000	0.35870	0.361000	0.20267	0.789000	0.33779	0.313000	0.20887	GAG	ZNF784	-	NULL		0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF784	HGNC	protein_coding	OTTHUMT00000453355.2	C	NM_203374		56133131	-1	no_errors	ENST00000325351	ensembl	human	known	70_37	missense	SNP	0.368	G	G	56133131	C	G	56133131	3	3	160	1	0	0	0	0	1	0	0	0	18186	864	30	1	17	1	ZNF784	19	56133131	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19391	56133131	2995852	2066	30339										
ZNF470	388566	genome.wustl.edu	37	chr19	57088188	57088188	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacttaaaagctatgaccttGaatgttcaacattagggaaa	8	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:57088188G>C	ENST00000330619.8	+	6	1077	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	ZNF470_ENST00000391709.3_Missense_Mutation_p.E131Q|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTATGACCTTGAATGTTCAAC	0.373																																																	0													73	75	74					19																	57088188		2203	4300	6503	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.391G>C	19.37:g.57088188G>C	ENSP00000333223:p.Glu131Gln		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E131Q	ENST00000330619.8	37	c.391	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.432095	0.01108	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06371	3.31;3.31	4.21	-2.53	0.06326	.	.	.	.	.	T	0.03220	0.0094	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47674	-0.9099	9	0.17832	T	0.49	.	0.9566	0.01387	0.3881:0.1437:0.3036:0.1646	.	131	Q6ECI4	ZN470_HUMAN	Q	131	ENSP00000375590:E131Q;ENSP00000333223:E131Q	ENSP00000333223:E131Q	E	+	1	0	ZNF470	61780000	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	-0.070000	0.11523	-0.122000	0.11766	-0.203000	0.12734	GAA	ZNF470	-	NULL		0.373	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	G	NM_001001668		57088188	1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57088188	G	C	57088188	3	2	160	1	0	0	0	0	1	0	0	0	17959	1291	45	1	405	1	ZNF470	19	57088188	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	955057	57088188	2040795	2067	30340										
VN1R1	57191	genome.wustl.edu	37	chr19	57967758	57967758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcaaaatctaggggatgttGattttcattgaggtctgaag	11	4	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:57967758G>C	ENST00000321039.3	-	1	96	c.97C>G	c.(97-99)Caa>Gaa	p.Q33E	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	33					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGGGGATGTTGATTTTCATTG	0.368																																																	0													58	60	59					19																	57967758		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.97C>G	19.37:g.57967758G>C	ENSP00000322339:p.Gln33Glu		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.Q33E	ENST00000321039.3	37	c.97	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182012	0.06340	.	.	ENSG00000178201	ENST00000321039	T	0.35789	1.29	3.12	-3.07	0.05363	.	.	.	.	.	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.31696	-0.9934	9	0.07482	T	0.82	.	3.3823	0.07259	0.4993:0.0:0.3053:0.1954	.	33	Q9GZP7	VN1R1_HUMAN	E	33	ENSP00000322339:Q33E	ENSP00000322339:Q33E	Q	-	1	0	VN1R1	62659570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.280000	0.08468	-0.384000	0.07845	-0.944000	0.02675	CAA	VN1R1	-	NULL		0.368	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	G	NM_020633		57967758	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57967758	G	C	57967758	3	2	160	1	0	0	0	0	1	0	0	0	17209	1299	45	1	968	1	VN1R1	19	57967758	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	879570	57967758	1161225	2068	30341										
ZNF773	374928	genome.wustl.edu	37	chr19	58017749	58017749	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttggcaaggagccaaggctGaggcagctgctgagcagagt	17	8	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58017749G>C	ENST00000282292.4	+	4	426	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E95Q	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGCCAAGGCTGAGGCAGCTGC	0.478																																																	0													83	86	85					19																	58017749		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.286G>C	19.37:g.58017749G>C	ENSP00000282292:p.Glu96Gln		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E96Q	ENST00000282292.4	37	c.286	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	0.495	-0.873631	0.02570	.	.	ENSG00000152439	ENST00000282292	T	0.06608	3.28	1.25	-2.5	0.06384	.	.	.	.	.	T	0.07279	0.0184	L	0.46157	1.445	0.09310	N	1	P;B	0.46395	0.877;0.003	P;B	0.46049	0.502;0.001	T	0.15350	-1.0440	9	0.23302	T	0.38	.	8.0378	0.30504	0.4177:0.0:0.5823:0.0	.	95;96	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	Q	96	ENSP00000282292:E96Q	ENSP00000282292:E96Q	E	+	1	0	ZNF773	62709561	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.115000	0.15540	-1.678000	0.01454	-1.305000	0.01319	GAG	ZNF773	-	NULL		0.478	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58017749	1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.000	C	C	58017749	G	C	58017749	3	2	160	1	0	0	0	0	1	0	0	0	18176	1291	45	1	300	1	ZNF773	19	58017749	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	49991	58017749	1111234	2069	30342										
ZNF530	348327	genome.wustl.edu	37	chr19	58117124	58117124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctgtggaagaactgtcacaGggcaggactccaaaggcaga	13	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58117124G>A	ENST00000332854.6	+	3	451	c.231G>A	c.(229-231)caG>caA	p.Q77Q	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTGTCACAGGGCAGGACTC	0.483																																																	0													76	75	75					19																	58117124		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.231G>A	19.37:g.58117124G>A			O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q77	ENST00000332854.6	37	c.231	CCDS12955.1	19																																																																																			ZNF530	-	pfscan_Krueppel-associated_box		0.483	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	G	NM_020880		58117124	1	no_errors	ENST00000332854	ensembl	human	known	70_37	silent	SNP	0.013	A	A	58117124	G	A	58117124	2	1	160	1	0	0	0	0	0	0	0	1	18001	991	35	4		4	ZNF530	19	58117124	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	99375	58117124	1011859	2070	30343										
ZNF586	54807	genome.wustl.edu	37	chr19	58290557	58290557	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaccacaggaaagttcactCtggagcaaagcgttatgaat	9	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58290557C>T	ENST00000396154.2	+	3	775	c.602C>T	c.(601-603)tCt>tTt	p.S201F	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Silent_p.L159L|ZNF586_ENST00000391702.3_Missense_Mutation_p.S158F|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGTTCACTCTGGAGCAAAG	0.428																																																	0													102	105	104					19																	58290557		2162	4291	6453	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.602C>T	19.37:g.58290557C>T	ENSP00000379458:p.Ser201Phe		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S201F	ENST00000396154.2	37	c.602	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044310	0.36085	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.19806	2.12;2.12	1.56	0.429	0.16506	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36358	0.0964	.	.	.	0.23739	N	0.996974	D	0.64830	0.994	D	0.72982	0.979	T	0.15492	-1.0435	8	0.87932	D	0	.	3.3261	0.07067	0.2476:0.5879:0.0:0.1645	.	201	Q9NXT0	ZN586_HUMAN	F	201;158;201	ENSP00000375583:S158F;ENSP00000379458:S201F	ENSP00000375583:S158F	S	+	2	0	ZNF586	62982369	0.000000	0.05858	0.029000	0.17559	0.036000	0.12997	0.115000	0.15540	-0.002000	0.14469	-0.194000	0.12790	TCT	ZNF586	-	pfscan_Znf_C2H2		0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	C	NM_017652		58290557	1	no_errors	ENST00000396154	ensembl	human	known	70_37	missense	SNP	0.984	T	T	58290557	C	T	58290557	3	4	160	1	0	0	0	0	1	0	0	0	18049	913	32	1	612	1	ZNF586	19	58290557	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	173433	58290557	838426	2071	30344										
ZNF418	147686	genome.wustl.edu	37	chr19	58439073	58439073	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttccactctgaatgaagataGatgactcctctgacacatgg	8	10	2	6	rs183050569		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58439073G>C	ENST00000396147.1	-	4	767	c.476C>G	c.(475-477)tCt>tGt	p.S159C	ZNF418_ENST00000599852.1_Missense_Mutation_p.S74C|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.S180C|ZNF418_ENST00000595830.1_Missense_Mutation_p.S159C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AATGAAGATAGATGACTCCTC	0.478																																																	0													126	130	128					19																	58439073		2189	4294	6483	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.476C>G	19.37:g.58439073G>C	ENSP00000379451:p.Ser159Cys		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S159C	ENST00000396147.1	37	c.476	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	11.99	1.804319	0.31869	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.08634	3.07;3.09	2.05	1.01	0.19927	.	.	.	.	.	T	0.11793	0.0287	L	0.28458	0.855	0.09310	N	1	D	0.69078	0.997	D	0.64506	0.926	T	0.21793	-1.0235	9	0.54805	T	0.06	.	1.6526	0.02775	0.5138:0.0:0.1944:0.2918	.	159	Q8TF45	ZN418_HUMAN	C	159;180;125	ENSP00000379451:S159C;ENSP00000407039:S180C	ENSP00000379451:S159C	S	-	2	0	ZNF418	63130885	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-0.033000	0.12246	0.246000	0.21394	0.305000	0.20034	TCT	ZNF418	-	NULL		0.478	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58439073	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	missense	SNP	0.001	C	C	58439073	G	C	58439073	3	2	160	1	0	0	0	0	1	0	0	0	17925	942	33	1	1558	1	ZNF418	19	58439073	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	148516	58439073	689910	2072	30345										
ZNF544	27300	genome.wustl.edu	37	chr19	58772823	58772823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcttcagtcacagtgtgtCtctgaatgaacagaagccag	9	11	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58772823C>G	ENST00000596652.1	+	6	1085	c.851C>G	c.(850-852)tCt>tGt	p.S284C	ZNF544_ENST00000600044.1_Missense_Mutation_p.S256C|ZNF544_ENST00000600220.1_Missense_Mutation_p.S256C|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.S284C|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S256C|ZNF544_ENST00000599953.1_Missense_Mutation_p.S142C			Q6NX49	ZN544_HUMAN	zinc finger protein 544	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CACAGTGTGTCTCTGAATGAA	0.418																																																	0													76	76	76					19																	58772823		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.851C>G	19.37:g.58772823C>G	ENSP00000469635:p.Ser284Cys		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S284C	ENST00000596652.1	37	c.851	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092360	0.36952	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.16597	2.33;2.33	3.3	-1.6	0.08426	.	.	.	.	.	T	0.11750	0.0286	L	0.51914	1.62	0.09310	N	1	B;B;B	0.32939	0.033;0.07;0.391	B;B;B	0.24394	0.009;0.016;0.053	T	0.20806	-1.0264	9	0.41790	T	0.15	.	4.9309	0.13917	0.0:0.443:0.3362:0.2208	.	256;256;284	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	C	284;256	ENSP00000269829:S284C;ENSP00000394341:S256C	ENSP00000269829:S284C	S	+	2	0	ZNF544	63464635	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.589000	0.23939	-0.083000	0.12618	-0.175000	0.13238	TCT	ZNF544	-	NULL		0.418	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	C	NM_014480		58772823	1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.000	G	G	58772823	C	G	58772823	3	3	160	1	0	0	0	0	1	0	0	0	18007	913	32	1	865	1	ZNF544	19	58772823	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	333750	58772823	356160	2073	30346										
ZNF8	7554	genome.wustl.edu	37	chr19	58805481	58805481	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcctgggagcctcgatctGaaagccaagcatcacgcaag	11	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:58805481G>C	ENST00000196548.5	+	4	438	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	ZNF8_ENST00000608843.1_Missense_Mutation_p.E103Q|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	103					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCTCGATCTGAAAGCCAAGC	0.542																																																	0													58	52	54					19																	58805481		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.307G>C	19.37:g.58805481G>C	ENSP00000196548:p.Glu103Gln		Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E103Q	ENST00000196548.5	37	c.307	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113818	0.37339	.	.	ENSG00000083842	ENST00000196548	T	0.07688	3.17	4.58	2.46	0.29980	.	0.139996	0.33290	N	0.005068	T	0.08802	0.0218	L	0.56769	1.78	0.09310	N	1	P	0.48162	0.906	B	0.41571	0.36	T	0.20840	-1.0263	10	0.36615	T	0.2	-7.9642	7.1151	0.25412	0.2037:0.0:0.7963:0.0	.	103	P17098	ZNF8_HUMAN	Q	103	ENSP00000196548:E103Q	ENSP00000196548:E103Q	E	+	1	0	ZNF8	63497293	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.199000	0.09491	0.676000	0.31285	-0.142000	0.14014	GAA	ZNF8	-	NULL		0.542	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58805481	1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.004	C	C	58805481	G	C	58805481	3	2	160	1	0	0	0	0	1	0	0	0	18197	1291	45	1	321	1	ZNF8	19	58805481	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	32658	58805481	323502	2074	30347										
SLC27A5	10998	genome.wustl.edu	37	chr19	59010559	59010559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgacaacacgccctccacctCgtgcgtggacacgttctcgc	9	18	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:59010559C>T	ENST00000263093.2	-	8	1805	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.E482K	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	566					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCCTCCACCTCGTGCGTGGAC	0.632																																																	0													84	74	78					19																	59010559		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1696G>A	19.37:g.59010559C>T	ENSP00000263093:p.Glu566Lys		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E566K	ENST00000263093.2	37	c.1696	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.111617	0.97291	.	.	ENSG00000083807	ENST00000263093	T	0.72394	-0.65	5.1	5.1	0.69264	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	H	0.97962	4.115	0.49130	D	0.999756	D	0.89917	1.0	D	0.97110	1.0	D	0.92982	0.6407	10	0.87932	D	0	-34.5753	14.3774	0.66886	0.0:1.0:0.0:0.0	.	566	Q9Y2P5	S27A5_HUMAN	K	566	ENSP00000263093:E566K	ENSP00000263093:E566K	E	-	1	0	SLC27A5	63702371	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	5.256000	0.65468	2.538000	0.85594	0.563000	0.77884	GAG	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.632	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59010559	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59010559	C	T	59010559	3	4	160	1	0	0	0	0	1	0	0	0	14559	893	31	1	388	1	SLC27A5	19	59010559	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	205078	59010559	118424	2075	30348										
MZF1	7593	genome.wustl.edu	37	chr19	59074078	59074078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcagcactgagcggcggccGaagcgctcgccgcactcgac	14	16	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr19:59074078G>T	ENST00000215057.2	-	6	2126	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.F522L|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	522					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AGCGGCGGCCGAAGCGCTCGC	0.721																																																	0													2	3	3					19																	59074078		1674	3366	5040	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1566C>A	19.37:g.59074078G>T	ENSP00000215057:p.Phe522Leu		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F522L	ENST00000215057.2	37	c.1566	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	19.78	3.890917	0.72524	.	.	ENSG00000099326	ENST00000215057	T	0.41065	1.01	3.57	-0.896	0.10557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194139	0.25549	N	0.029907	T	0.61236	0.2331	M	0.89658	3.05	0.33527	D	0.593156	D	0.89917	1.0	D	0.64144	0.922	T	0.68864	-0.5296	10	0.87932	D	0	-15.4041	7.5608	0.27849	0.3975:0.0:0.6025:0.0	.	522	P28698	MZF1_HUMAN	L	522	ENSP00000215057:F522L	ENSP00000215057:F522L	F	-	3	2	MZF1	63765890	0.031000	0.19500	0.994000	0.49952	0.759000	0.43091	0.717000	0.25851	-0.072000	0.12864	-0.379000	0.06801	TTC	MZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.721	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	G	NM_198055		59074078	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.997	T	T	59074078	G	T	59074078	3	4	160	1	0	0	0	0	1	0	0	0	10131	1049	37	3	642	3	MZF1	19	59074078	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	63519	59074078	54905	2076	30349										
TRIB3	57761	genome.wustl.edu	37	chr20	372012	372012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcatgtggctcggcccactGaggtcctggctggtacccag	14	13	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:372012G>A	ENST00000217233.3	+	3	926	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TRIB3_ENST00000422053.2_Missense_Mutation_p.E152K	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	125	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TCGGCCCACTGAGGTCCTGGC	0.657																																					Melanoma(101;421 2374 19538)												0													41	41	41					20																	372012		2203	4300	6503	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.373G>A	20.37:g.372012G>A	ENSP00000217233:p.Glu125Lys		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	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,pfscan_Prot_kinase_cat_dom	p.E152K	ENST00000217233.3	37	c.454	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971148	0.53614	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.21361	2.01;2.02;2.01	5.1	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.581658	0.15583	N	0.254800	T	0.46367	0.1389	M	0.90870	3.155	0.42466	D	0.992807	P;P	0.49090	0.919;0.865	P;P	0.51974	0.686;0.686	T	0.58645	-0.7600	10	0.72032	D	0.01	-12.0024	13.3693	0.60703	0.0:0.1592:0.8408:0.0	.	152;125	B4DMM9;Q96RU7	.;TRIB3_HUMAN	K	125;125;152	ENSP00000217233:E125K;ENSP00000391873:E125K;ENSP00000415416:E152K	ENSP00000217233:E125K	E	+	1	0	TRIB3	320012	1.000000	0.71417	0.461000	0.27105	0.006000	0.05464	6.526000	0.73799	1.354000	0.45846	-0.305000	0.09177	GAG	TRIB3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	G	NM_021158		372012	1	no_errors	ENST00000422053	ensembl	human	known	70_37	missense	SNP	0.991	A	A	372012	G	A	372012	3	1	160	1	0	0	0	0	1	0	0	0	16515	1291	45	1	379	1	TRIB3	20	372012	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		372012	62653508	2077	30350										
SIRPA	140885	genome.wustl.edu	37	chr20	1902137	1902137	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcccacggcttctcacccaGagacatcaccctgaaatggt	8	15	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:1902137G>C	ENST00000358771.4	+	3	685	c.533G>C	c.(532-534)aGa>aCa	p.R178T	SIRPA_ENST00000400068.3_Missense_Mutation_p.R178T|SIRPA_ENST00000356025.3_Missense_Mutation_p.R178T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	178	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TTCTCACCCAGAGACATCACC	0.592																																					GBM(155;1668 1920 5945 42733 48121)												0													74	71	72					20																	1902137		2203	4297	6500	SO:0001583	missense	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.533G>C	20.37:g.1902137G>C	ENSP00000351621:p.Arg178Thr		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.R178T	ENST00000358771.4	37	c.533	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225854	0.39300	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02944	4.1;4.1;4.1	4.38	3.42	0.39159	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.549745	0.16084	N	0.230393	T	0.08492	0.0211	M	0.89601	3.045	0.40036	D	0.975599	P;B;P	0.47841	0.659;0.364;0.901	B;B;P	0.45506	0.382;0.063;0.483	T	0.00972	-1.1495	10	0.56958	D	0.05	.	7.5652	0.27874	0.1136:0.0:0.8864:0.0	.	158;178;178	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	178	ENSP00000382941:R178T;ENSP00000348307:R178T;ENSP00000351621:R178T	ENSP00000348307:R178T	R	+	2	0	SIRPA	1850137	0.570000	0.26651	0.996000	0.52242	0.172000	0.22775	1.038000	0.30254	2.466000	0.83321	0.456000	0.33151	AGA	SIRPA	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.592	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	G	NM_080792		1902137	1	no_errors	ENST00000400068	ensembl	human	known	70_37	missense	SNP	0.995	C	C	1902137	G	C	1902137	3	2	160	1	0	0	0	0	1	0	0	0	14362	942	33	1	543	1	SIRPA	20	1902137	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1530125	1902137	61123383	2078	30351										
CPXM1	56265	genome.wustl.edu	37	chr20	2777278	2777278	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggtgatgttggggcattgctCttgtacctgcttcatcagct	12	9	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:2777278C>G	ENST00000380605.2	-	8	1004	c.940G>C	c.(940-942)Gag>Cag	p.E314Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	314					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGGCATTGCTCTTGTACCTGC	0.547																																																	0													173	157	163					20																	2777278		2203	4300	6503	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.940G>C	20.37:g.2777278C>G	ENSP00000369979:p.Glu314Gln		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E314Q	ENST00000380605.2	37	c.940	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758414	0.31137	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10573	2.86	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.097074	0.64402	D	0.000001	T	0.12646	0.0307	L	0.33485	1.01	0.48901	D	0.999727	P;B	0.42871	0.792;0.31	B;B	0.43194	0.411;0.108	T	0.01729	-1.1286	10	0.44086	T	0.13	-27.0231	16.7686	0.85531	0.0:1.0:0.0:0.0	.	314;314	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	Q	314;10	ENSP00000369979:E314Q	ENSP00000369979:E314Q	E	-	1	0	CPXM1	2725278	0.978000	0.34361	0.975000	0.42487	0.521000	0.34408	2.537000	0.45702	2.825000	0.97269	0.655000	0.94253	GAG	CPXM1	-	pfam_Peptidase_M14		0.547	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	C	NM_019609		2777278	-1	no_errors	ENST00000380605	ensembl	human	known	70_37	missense	SNP	0.997	G	G	2777278	C	G	2777278	3	3	160	1	0	0	0	0	1	0	0	0	3842	922	32	1	1292	1	CPXM1	20	2777278	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	875141	2777278	60248242	2079	30352										
PTPRA	5786	genome.wustl.edu	37	chr20	2967413	2967413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgttgtcttgatttcagatGagacaccaattattgcggtg	10	7	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:2967413G>A	ENST00000216877.6	+	6	818	c.418G>A	c.(418-420)Gag>Aag	p.E140K	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Missense_Mutation_p.E160K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E140K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E149K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E149K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E140K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	140					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATTTCAGATGAGACACCAAT	0.438																																																	0													311	244	267					20																	2967413		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.418G>A	20.37:g.2967413G>A	ENSP00000216877:p.Glu140Lys		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E160K	ENST00000216877.6	37	c.478	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013078	0.93346	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T	0.58060	3.9;0.76;3.91;3.9;3.89;3.91;0.36;3.91	5.81	5.81	0.92471	.	0.057432	0.64402	U	0.000002	T	0.45696	0.1355	N	0.19112	0.55	0.80722	D	1	P;P;P	0.49559	0.877;0.925;0.925	B;P;P	0.47162	0.339;0.54;0.54	T	0.22591	-1.0212	10	0.12103	T	0.63	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	160;149;140	B7Z2A4;P18433-3;P18433-4	.;.;.	K	149;140;140;149;149;160;140;149;140	ENSP00000369756:E149K;ENSP00000414089:E140K;ENSP00000216877:E140K;ENSP00000382787:E149K;ENSP00000393553:E160K;ENSP00000314568:E140K;ENSP00000394132:E149K;ENSP00000348468:E140K	ENSP00000216877:E140K	E	+	1	0	PTPRA	2915413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.498000	0.97972	2.747000	0.94245	0.650000	0.86243	GAG	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.438	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	G			2967413	1	no_errors	ENST00000425918	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2967413	G	A	2967413	3	1	160	1	0	0	0	0	1	0	0	0	12825	1291	45	1	459	1	PTPRA	20	2967413	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	190135	2967413	60058107	2080	30353										
UBOX5	22888	genome.wustl.edu	37	chr20	3102562	3102562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggagggagcctgctggctCtcaggctggtccccagggtc	16	13	1	0	rs369709314		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3102562C>T	ENST00000217173.2	-	3	1194	c.723G>A	c.(721-723)gaG>gaA	p.E241E	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.E241E	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCTGCTGGCTCTCAGGCTGGT	0.602																																																	0								C	,	0,4406		0,0,2203	40	39	39		723,723	4.4	0.1	20		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UBOX5	NM_014948.2,NM_199415.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	241/542,241/488	3102562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.723G>A	20.37:g.3102562C>T				Silent	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.E241	ENST00000217173.2	37	c.723	CCDS13046.1	20																																																																																			UBOX5	-	NULL		0.602	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	C	NM_014948		3102562	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	silent	SNP	0.236	T	T	3102562	C	T	3102562	2	4	160	1	0	0	0	0	0	0	0	1	16925	912	32	1		1	UBOX5	20	3102562	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	135149	3102562	59922958	2081	30354										
ATRN	8455	genome.wustl.edu	37	chr20	3452162	3452162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcactgcgggggccgcttCaggtgagtggcgggtggtgt	20	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3452162C>T	ENST00000262919.5	+	1	476	c.408C>T	c.(406-408)ttC>ttT	p.F136F	ATRN_ENST00000446916.2_Silent_p.F136F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	136	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGGGCCGCTTCAGGTGAGTGG	0.701																																																	0													3	4	4					20																	3452162		1845	3840	5685	SO:0001819	synonymous_variant	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.408C>T	20.37:g.3452162C>T			A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F136	ENST00000262919.5	37	c.408	CCDS13053.1	20																																																																																			ATRN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.701	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	C	NM_139321		3452162	1	no_errors	ENST00000262919	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3452162	C	T	3452162	2	4	160	1	0	0	0	0	0	0	0	1	1207	825	29	1		1	ATRN	20	3452162	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	349600	3452162	59573358	2082	30355										
C20orf27	54976	genome.wustl.edu	37	chr20	3736209	3736209	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagcctgtgcactgggggcaGagtgaaggtaatctcatacc	13	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3736209G>C	ENST00000379772.3	-	4	1018	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	C20orf27_ENST00000217195.8_Missense_Mutation_p.L95V	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACTGGGGGCAGAGTGAAGGTA	0.617																																																	0													77	66	70					20																	3736209		2203	4300	6503	SO:0001583	missense	54976			AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.208C>G	20.37:g.3736209G>C	ENSP00000369097:p.Leu70Val		A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	NULL	p.L95V	ENST00000379772.3	37	c.283	CCDS58763.1	20	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354057	0.61293	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.	.	.	4.15	3.2	0.36748	.	0.000000	0.56097	U	0.000023	T	0.64627	0.2615	L	0.54908	1.71	0.50039	D	0.999848	P;P;D	0.76494	0.537;0.537;0.999	B;B;D	0.80764	0.203;0.391;0.994	T	0.61053	-0.7140	9	0.27785	T	0.31	-1.9094	6.5844	0.22612	0.2102:0.0:0.7898:0.0	.	70;95;70	Q9GZN8;Q9GZN8-2;E9PAL2	CT027_HUMAN;.;.	V	70;95;70;70	.	ENSP00000217195:L95V	L	-	1	2	C20orf27	3684209	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	3.523000	0.53488	1.358000	0.45922	0.561000	0.74099	CTG	C20orf27	-	NULL		0.617	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf27	HGNC	protein_coding	OTTHUMT00000077750.2	G	NM_001039140		3736209	-1	no_errors	ENST00000217195	ensembl	human	known	70_37	missense	SNP	0.998	C	C	3736209	G	C	3736209	3	2	160	1	0	0	0	0	1	0	0	0	2112	933	33	1	328	1	C20orf27	20	3736209	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	284047	3736209	59289311	2083	30356										
CDC25B	994	genome.wustl.edu	37	chr20	3781913	3781913	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtggacagtgtctcagtcctGaccggaagatggaagtggag	16	7	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3781913G>C	ENST00000245960.5	+	8	1415	c.718G>C	c.(718-720)Gac>Cac	p.D240H	CDC25B_ENST00000379598.5_Missense_Mutation_p.D176H|CDC25B_ENST00000344256.6_Missense_Mutation_p.D176H|CDC25B_ENST00000439880.2_Missense_Mutation_p.D226H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.D199H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	240					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCTCAGTCCTGACCGGAAGAT	0.572																																																	0													97	92	94					20																	3781913		2203	4300	6503	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.718G>C	20.37:g.3781913G>C	ENSP00000245960:p.Asp240His		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.D240H	ENST00000245960.5	37	c.718	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215543	0.58452	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	4.53	4.53	0.55603	.	0.725928	0.13312	N	0.397434	T	0.33847	0.0877	N	0.24115	0.695	0.28004	N	0.935175	P;P;P;B;P;P	0.50066	0.703;0.931;0.703;0.343;0.654;0.904	P;P;P;B;P;P	0.60068	0.663;0.868;0.663;0.329;0.532;0.562	T	0.11275	-1.0594	10	0.49607	T	0.09	-7.866	13.4875	0.61375	0.0:0.0:1.0:0.0	.	176;162;176;199;226;240	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	176;176;240;226;199	ENSP00000339125:D176H;ENSP00000368918:D176H;ENSP00000245960:D240H;ENSP00000405972:D226H;ENSP00000339170:D199H	ENSP00000245960:D240H	D	+	1	0	CDC25B	3729913	0.829000	0.29322	0.712000	0.30502	0.505000	0.33919	5.990000	0.70595	2.461000	0.83175	0.561000	0.74099	GAC	CDC25B	-	pfam_MPI_Phosphatase		0.572	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3781913	1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	0.940	C	C	3781913	G	C	3781913	3	2	160	1	0	0	0	0	1	0	0	0	3068	1290	45	1	748	1	CDC25B	20	3781913	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	45704	3781913	59243607	2084	30357										
CDC25B	994	genome.wustl.edu	37	chr20	3781997	3781997	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagagggggatactgaggaaGatgatggatttgtggacatc	16	4	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:3781997G>C	ENST00000245960.5	+	8	1499	c.802G>C	c.(802-804)Gat>Cat	p.D268H	CDC25B_ENST00000379598.5_Missense_Mutation_p.D204H|CDC25B_ENST00000344256.6_Missense_Mutation_p.D204H|CDC25B_ENST00000439880.2_Missense_Mutation_p.D254H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.D227H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	268					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TACTGAGGAAGATGATGGATT	0.552																																																	0													144	147	146					20																	3781997		2203	4300	6503	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.802G>C	20.37:g.3781997G>C	ENSP00000245960:p.Asp268His		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.D268H	ENST00000245960.5	37	c.802	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060544	0.76074	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.41	4.41	0.53225	.	0.054012	0.64402	D	0.000001	T	0.74943	0.3783	M	0.78456	2.415	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.998;0.998;1.0	T	0.78510	-0.2176	10	0.87932	D	0	-21.0743	13.2211	0.59887	0.0:0.0:1.0:0.0	.	204;190;204;227;254;268	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	204;204;268;254;227	ENSP00000339125:D204H;ENSP00000368918:D204H;ENSP00000245960:D268H;ENSP00000405972:D254H;ENSP00000339170:D227H	ENSP00000245960:D268H	D	+	1	0	CDC25B	3729997	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	4.542000	0.60677	2.395000	0.81488	0.561000	0.74099	GAT	CDC25B	-	pfam_MPI_Phosphatase		0.552	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3781997	1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3781997	G	C	3781997	3	2	160	1	0	0	0	0	1	0	0	0	3068	942	33	1	832	1	CDC25B	20	3781997	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	84	3781997	59243523	2085	30358										
PROKR2	128674	genome.wustl.edu	37	chr20	5294944	5294944	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccataactgaagttaaaggaGagggaggaggcatggtcttg	15	5	1	2	rs375646689		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:5294944G>C	ENST00000217270.3	-	1	71	c.72C>G	c.(70-72)ctC>ctG	p.L24L	PROKR2_ENST00000546004.1_Silent_p.L24L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	24					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGTTAAAGGAGAGGGAGGAGG	0.498										HNSCC(71;0.22)																																							0													115	103	107					20																	5294944		2203	4300	6503	SO:0001819	synonymous_variant	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.72C>G	20.37:g.5294944G>C			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L24	ENST00000217270.3	37	c.72	CCDS13089.1	20																																																																																			PROKR2	-	NULL		0.498	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	G	NM_144773		5294944	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	silent	SNP	0.368	C	C	5294944	G	C	5294944	2	2	160	1	0	0	0	0	0	0	0	1	12580	929	33	1		1	PROKR2	20	5294944	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1512947	5294944	57730576	2086	30359										
CHGB	1114	genome.wustl.edu	37	chr20	5903673	5903673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaggcccgacaggtcctctCaaggagggagtcttccctct	12	14	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:5903673C>G	ENST00000378961.4	+	4	1087	c.883C>G	c.(883-885)Caa>Gaa	p.Q295E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	295						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGGTCCTCTCAAGGAGGGAG	0.582																																																	0													26	27	27					20																	5903673		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.883C>G	20.37:g.5903673C>G	ENSP00000368244:p.Gln295Glu		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.Q295E	ENST00000378961.4	37	c.883	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	C	5.375	0.254379	0.10185	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01613	4.73;4.73	4.58	2.5	0.30297	.	0.879417	0.09680	N	0.769941	T	0.01800	0.0057	L	0.45137	1.4	0.22648	N	0.998894	B	0.13594	0.008	B	0.19946	0.027	T	0.49995	-0.8879	10	0.05620	T	0.96	-6.2126	6.7907	0.23697	0.0:0.4923:0.3922:0.1155	.	295	P05060	SCG1_HUMAN	E	295;275	ENSP00000368244:Q295E;ENSP00000416643:Q275E	ENSP00000368244:Q295E	Q	+	1	0	CHGB	5851673	0.966000	0.33281	0.909000	0.35828	0.518000	0.34316	2.098000	0.41757	1.114000	0.41781	0.563000	0.77884	CAA	CHGB	-	pfam_Granin		0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	C	NM_001819		5903673	1	no_errors	ENST00000378961	ensembl	human	known	70_37	missense	SNP	0.997	G	G	5903673	C	G	5903673	3	3	160	1	0	0	0	0	1	0	0	0	3344	827	29	1	897	1	CHGB	20	5903673	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	608729	5903673	57121847	2087	30360										
JAG1	182	genome.wustl.edu	37	chr20	10620521	10620521	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcccggcttccgccgcttCcgcaggcaccagtagaaggc	12	17	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:10620521C>T	ENST00000254958.5	-	26	3797	c.3282G>A	c.(3280-3282)cgG>cgA	p.R1094R	JAG1_ENST00000423891.2_Silent_p.R935R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1094					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCCGCCGCTTCCGCAGGCACC	0.552									Alagille Syndrome																																								0													49	48	48					20																	10620521		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3282G>A	20.37:g.10620521C>T			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.R1094	ENST00000254958.5	37	c.3282	CCDS13112.1	20																																																																																			JAG1	-	NULL		0.552	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		C	NM_000214		10620521	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	silent	SNP	0.999	T	T	10620521	C	T	10620521	2	4	160	1	0	0	0	0	0	0	0	1	7954	842	30	1		1	JAG1	20	10620521	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4716848	10620521	52404999	2088	30361										
JAG1	182	genome.wustl.edu	37	chr20	10639327	10639327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgccactgccggctggggttGatcatgcccgagtgagaagc	15	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:10639327G>C	ENST00000254958.5	-	4	998	c.483C>G	c.(481-483)atC>atG	p.I161M	JAG1_ENST00000423891.2_Missense_Mutation_p.I2M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	161					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCTGGGGTTGATCATGCCCG	0.488									Alagille Syndrome																																								0													102	97	99					20																	10639327		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.483C>G	20.37:g.10639327G>C	ENSP00000254958:p.Ile161Met		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.I161M	ENST00000254958.5	37	c.483	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009988	0.75046	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.88201	-2.16;-2.35	5.36	-7.65	0.01281	.	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	L	0.60455	1.87	0.45914	D	0.998752	P	0.46784	0.884	P	0.48952	0.596	T	0.81132	-0.1072	10	0.56958	D	0.05	.	6.2874	0.21041	0.2472:0.0:0.2713:0.4816	.	161	P78504	JAG1_HUMAN	M	161;2	ENSP00000254958:I161M;ENSP00000389519:I2M	ENSP00000254958:I161M	I	-	3	3	JAG1	10587327	0.997000	0.39634	0.886000	0.34754	0.994000	0.84299	0.346000	0.19997	-1.288000	0.02378	0.514000	0.50259	ATC	JAG1	-	NULL		0.488	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10639327	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	missense	SNP	0.972	C	C	10639327	G	C	10639327	3	2	160	1	0	0	0	0	1	0	0	0	7954	1280	45	1	3265	1	JAG1	20	10639327	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	18806	10639327	52386193	2089	30362										
TASP1	55617	genome.wustl.edu	37	chr20	13610679	13610679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagccgaaacctgagatgatCtggaaggcagcccttctcca	10	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:13610679C>T	ENST00000337743.4	-	2	167	c.47G>A	c.(46-48)aGa>aAa	p.R16K	TASP1_ENST00000539805.1_Missense_Mutation_p.R16K|TASP1_ENST00000544472.1_Missense_Mutation_p.R16K|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	16					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTGAGATGATCTGGAAGGCAG	0.458																																																	0													126	117	120					20																	13610679		2203	4300	6503	SO:0001583	missense	55617			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.47G>A	20.37:g.13610679C>T	ENSP00000338624:p.Arg16Lys		B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	pfam_Peptidase_T2	p.R16K	ENST00000337743.4	37	c.47	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394091	0.42410	.	.	ENSG00000089123	ENST00000539805;ENST00000378157;ENST00000337743;ENST00000455532;ENST00000544472	D;D	0.92048	-2.96;-2.71	5.16	3.98	0.46160	.	0.435265	0.25894	N	0.027620	T	0.74726	0.3754	N	0.03608	-0.345	0.32745	N	0.507143	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.68667	-0.5348	10	0.07813	T	0.8	-10.8334	3.7695	0.08636	0.0:0.6501:0.0:0.3498	.	16;16;16	B7Z963;Q9H6P5;Q5JWM4	.;TASP1_HUMAN;.	K	16	ENSP00000338624:R16K;ENSP00000400580:R16K	ENSP00000338624:R16K	R	-	2	0	TASP1	13558679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.607000	0.46300	2.555000	0.86185	0.650000	0.86243	AGA	TASP1	-	NULL		0.458	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	C	NM_017714		13610679	-1	no_errors	ENST00000337743	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13610679	C	T	13610679	3	4	160	1	0	0	0	0	1	0	0	0	15619	913	32	1	1267	1	TASP1	20	13610679	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2971352	13610679	49414841	2090	30363										
C20orf72	27131	genome.wustl.edu	37	chr20	17950958	17950958	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gttttcttgttggagaggtgGaaacagcggatgattctgga	15	4	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:17950958G>A	ENST00000377768.3	-	0	0				MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Intron|SNX5_ENST00000377759.4_5'Flank|SNX5_ENST00000606602.1_5'Flank|MGME1_ENST00000377704.4_Nonsense_Mutation_p.W152*|SNX5_ENST00000606557.1_5'Flank|SNX5_ENST00000486039.1_5'Flank|SNX5_ENST00000481323.1_5'Flank|MGME1_ENST00000377710.5_Nonsense_Mutation_p.W152*	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TGGAGAGGTGGAAACAGCGGA	0.393																																																	0													106	112	110					20																	17950958		2203	4300	6503	SO:0001631	upstream_gene_variant	92667			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17950958G>A	Exception_encountered		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Nonsense_Mutation	SNP	superfamily_Restrct_endonuc-II-like	p.W152*	ENST00000377768.3	37	c.456	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	G	40	8.192552	0.98699	.	.	ENSG00000125871	ENST00000377710;ENST00000377704	.	.	.	5.97	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9677	15.0728	0.72053	0.0678:0.0:0.9322:0.0	.	.	.	.	X	152	.	ENSP00000366933:W152X	W	+	3	0	C20orf72	17898958	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.410000	0.97335	1.525000	0.49052	0.655000	0.94253	TGG	C20orf72	-	NULL		0.393	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf72	HGNC	protein_coding	OTTHUMT00000078137.4	G			17950958	1	no_errors	ENST00000377710	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	17950958	G	A	17950958	1	1	160	0	1	0	0	0	0	0	0	0	2123	1183	41	1		1	C20orf72	20	17950958	5'Flank	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4340279	17950958	45074562	2091	30364										
SEC23B	10483	genome.wustl.edu	37	chr20	18492926	18492926	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctgttttcaaagaaatcaGgtatgtgaattatttttaaa	6	3	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:18492926G>C	ENST00000336714.3	+	3	711	c.279G>C	c.(277-279)caG>caC	p.Q93H	SEC23B_ENST00000377465.1_Splice_Site_p.Q93H|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Splice_Site_p.Q93H|SEC23B_ENST00000377475.3_Splice_Site_p.Q93H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AAAGAAATCAGGTATGTGaat	0.274																																																	0													24	26	25					20																	18492926		2198	4274	6472	SO:0001630	splice_region_variant	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.279+1G>C	20.37:g.18492926G>C			D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.Q93H	ENST00000336714.3	37	c.279	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	G	9.107	1.005538	0.19199	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.93	4.93	0.64822	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.53530	0.1802	N	0.02721	-0.515	0.54753	D	0.999982	B;B	0.10296	0.003;0.002	B;B	0.13407	0.004;0.009	T	0.55988	-0.8053	10	0.02654	T	1	-14.7116	17.6669	0.88205	0.0:0.0:1.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	H	93	ENSP00000403971:Q93H;ENSP00000338844:Q93H;ENSP00000262544:Q93H;ENSP00000366695:Q93H;ENSP00000366685:Q93H	ENSP00000262544:Q93H	Q	+	3	2	SEC23B	18440926	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.729000	0.47327	2.721000	0.93114	0.655000	0.94253	CAG	SEC23B	-	pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24		0.274	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	G		Missense_Mutation	18492926	1	no_errors	ENST00000262544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18492926	G	C	18492926	5	2	160	1	0	0	0	0	0	0	1	0	14022	1014	35	4	285	4	SEC23B	20	18492926	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	541968	18492926	44532594	2092	30365										
RALGAPA2	57186	genome.wustl.edu	37	chr20	20621513	20621513	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagaaacagcctgattccttCacatcttatctaaaacaaaa	3	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:20621513C>T	ENST00000202677.7	-	6	389	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	128					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGATTCCTTCACATCTTATC	0.383																																																	0													46	44	44					20																	20621513		1868	4111	5979	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.382G>A	20.37:g.20621513C>T	ENSP00000202677:p.Glu128Lys		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E128K	ENST00000202677.7	37	c.382	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.391357	0.95988	.	.	ENSG00000188559	ENST00000202677;ENST00000438161	T;T	0.64085	-0.08;-0.08	5.62	5.62	0.85841	.	0.000000	0.85682	U	0.000000	T	0.81394	0.4813	M	0.84683	2.71	0.58432	D	0.999999	D	0.71674	0.998	D	0.65874	0.939	T	0.82456	-0.0448	9	.	.	.	.	19.6604	0.95864	0.0:1.0:0.0:0.0	.	128	Q2PPJ7	RGPA2_HUMAN	K	128	ENSP00000202677:E128K;ENSP00000412795:E128K	.	E	-	1	0	RALGAPA2	20569513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.368000	0.79567	2.662000	0.90505	0.591000	0.81541	GAA	RALGAPA2	-	NULL		0.383	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20621513	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20621513	C	T	20621513	3	4	160	1	0	0	0	0	1	0	0	0	13044	835	29	1	5375	1	RALGAPA2	20	20621513	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2128587	20621513	42404007	2093	30366										
FOXA2	3170	genome.wustl.edu	37	chr20	22563544	22563544	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agcgggctcaggctgggactCaagtgcggccccatgcccgc	15	15	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:22563544C>G	ENST00000377115.4	-	3	499	c.318G>C	c.(316-318)ttG>ttC	p.L106F	FOXA2_ENST00000419308.2_Missense_Mutation_p.L112F	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	106					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCTGGGACTCAAGTGCGGCC	0.776																																																	0													5	6	5					20																	22563544		1847	3800	5647	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.318G>C	20.37:g.22563544C>G	ENSP00000366319:p.Leu106Phe		Q8WUW4|Q96DF7	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L112F	ENST00000377115.4	37	c.336	CCDS13147.1	20	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121518	0.77436	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	T;T;T	0.22743	1.94;1.94;1.94	4.65	4.65	0.58169	Fork-head N-terminal (1);	0.224065	0.29260	U	0.012666	T	0.45637	0.1352	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79784	0.939;0.993	T	0.40079	-0.9582	10	0.41790	T	0.15	.	12.9801	0.58559	0.0:0.8371:0.1629:0.0	.	106;112	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	F	106;106;112	ENSP00000366319:L106F;ENSP00000400341:L106F;ENSP00000315955:L112F	ENSP00000315955:L112F	L	-	3	2	FOXA2	22511544	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.006000	0.49529	2.126000	0.65437	0.586000	0.80456	TTG	FOXA2	-	pfam_Fork-head_N		0.776	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	C			22563544	-1	no_errors	ENST00000319993	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22563544	C	G	22563544	3	3	160	1	0	0	0	0	1	0	0	0	6008	825	29	1	1059	1	FOXA2	20	22563544	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1942031	22563544	40461976	2094	30367										
CST1	1469	genome.wustl.edu	37	chr20	23731323	23731323	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cggacgtctgtagtagtcatCtttggtggccttgttatact	11	8	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:23731323C>G	ENST00000304749.2	-	1	251	c.181G>C	c.(181-183)Gat>Cat	p.D61H	CST1_ENST00000398402.1_Missense_Mutation_p.D61H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TAGTAGTCATCTTTGGTGGCC	0.567																																																	0													163	133	143					20																	23731323		2203	4300	6503	SO:0001583	missense	1469			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.181G>C	20.37:g.23731323C>G	ENSP00000305731:p.Asp61His		Q96LE6|Q9UCQ6	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.D61H	ENST00000304749.2	37	c.181	CCDS13160.1	20	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688384	0.29962	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.29917	1.55;1.55	1.61	1.61	0.23674	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.91561	3.22	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.44498	-0.9324	10	0.87932	D	0	.	6.5692	0.22529	0.0:1.0:0.0:0.0	.	61	P01037	CYTN_HUMAN	H	61	ENSP00000305731:D61H;ENSP00000381439:D61H	ENSP00000305731:D61H	D	-	1	0	CST1	23679323	0.008000	0.16893	0.002000	0.10522	0.018000	0.09664	0.516000	0.22817	0.861000	0.35504	0.184000	0.17185	GAT	CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	C	NM_001898		23731323	-1	no_errors	ENST00000304749	ensembl	human	known	70_37	missense	SNP	0.005	G	G	23731323	C	G	23731323	3	3	160	1	0	0	0	0	1	0	0	0	3975	913	32	1	256	1	CST1	20	23731323	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1167779	23731323	39294197	2095	30368										
PYGB	5834	genome.wustl.edu	37	chr20	25258981	25258981	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gaggggaaggagctgcggctGaagcaggagtacttcgtggt	19	6	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:25258981G>A	ENST00000216962.4	+	8	992	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	294					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AGCTGCGGCTGAAGCAGGAGT	0.627																																																	0													69	65	66					20																	25258981		2203	4300	6503	SO:0001819	synonymous_variant	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.882G>A	20.37:g.25258981G>A			Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.L294	ENST00000216962.4	37	c.882	CCDS13171.1	20																																																																																			PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.627	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	G	NM_002862		25258981	1	no_errors	ENST00000216962	ensembl	human	known	70_37	silent	SNP	1.000	A	A	25258981	G	A	25258981	2	1	160	1	0	0	0	0	0	0	0	1	12890	1277	45	1		1	PYGB	20	25258981	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1527658	25258981	37766539	2096	30369										
NINL	22981	genome.wustl.edu	37	chr20	25443110	25443110	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgttttgggcctggtgggtaGaagcctcctgtcccagttga	14	10	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:25443110G>C	ENST00000278886.6	-	20	3564	c.3491C>G	c.(3490-3492)tCt>tGt	p.S1164C	NINL_ENST00000422516.1_Missense_Mutation_p.S815C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1164					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGGTGGGTAGAAGCCTCCTG	0.493																																																	0													151	133	139					20																	25443110		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3491C>G	20.37:g.25443110G>C	ENSP00000278886:p.Ser1164Cys		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S1164C	ENST00000278886.6	37	c.3491	CCDS33452.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.894478|1.894478	0.33442|0.33442	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000336104|ENST00000278886;ENST00000422516	.|T;T	.|0.36520	.|3.34;1.25	5.17|5.17	4.21|4.21	0.49690|0.49690	.|.	.|0.328576	.|0.28706	.|N	.|0.014406	T|T	0.53899|0.53899	0.1825|0.1825	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.72338	.|0.977;0.973	T|T	0.49113|0.49113	-0.8973|-0.8973	5|10	.|0.62326	.|D	.|0.03	-3.0613|-3.0613	14.2569|14.2569	0.66058|0.66058	0.0:0.0:0.8502:0.1498|0.0:0.0:0.8502:0.1498	.|.	.|815;1164	.|Q9Y2I6-2;Q9Y2I6	.|.;NINL_HUMAN	L|C	116|1164;815	.|ENSP00000278886:S1164C;ENSP00000410431:S815C	.|ENSP00000278886:S1164C	F|S	-|-	3|2	2|0	NINL|NINL	25391110|25391110	0.248000|0.248000	0.23930|0.23930	0.007000|0.007000	0.13788|0.13788	0.209000|0.209000	0.24338|0.24338	2.393000|2.393000	0.44442|0.44442	1.405000|1.405000	0.46838|0.46838	0.561000|0.561000	0.74099|0.74099	TTC|TCT	NINL	-	NULL		0.493	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	G	NM_025176		25443110	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	0.079	C	C	25443110	G	C	25443110	3	2	160	1	0	0	0	0	1	0	0	0	10444	942	33	1	677	1	NINL	20	25443110	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	184129	25443110	37582410	2097	30370										
NANP	140838	genome.wustl.edu	37	chr20	25597140	25597140	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggatgaaaacattccttgctGagtttaacttgaactttatc	7	7	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:25597140G>C	ENST00000304788.3	-	2	394	c.168C>G	c.(166-168)ctC>ctG	p.L56L		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	56					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						ATTCCTTGCTGAGTTTAACTT	0.338																																																	0													64	60	62					20																	25597140		2203	4300	6503	SO:0001819	synonymous_variant	140838			AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"chromosome 20 open reading frame 147", "haloacid dehalogenase-like hydrolase domain containing 4"	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.168C>G	20.37:g.25597140G>C			B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1	p.L56	ENST00000304788.3	37	c.168	CCDS13173.1	20																																																																																			NANP	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7		0.338	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	HGNC	protein_coding	OTTHUMT00000078457.2	G	NM_152667		25597140	-1	no_errors	ENST00000304788	ensembl	human	known	70_37	silent	SNP	1.000	C	C	25597140	G	C	25597140	2	2	160	1	0	0	0	0	0	0	0	1	10177	1277	45	1		1	NANP	20	25597140	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	154030	25597140	37428380	2098	30371										
DEFB123	245936	genome.wustl.edu	37	chr20	30028540	30028540	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actttgactgtgctgctgctCttatcccagctgactccagg	9	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:30028540C>G	ENST00000376309.3	+	1	219	c.39C>G	c.(37-39)ctC>ctG	p.L13L		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	13					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGCTGCTCTTATCCCAGC	0.537																																																	0													351	313	326					20																	30028540		2203	4300	6503	SO:0001819	synonymous_variant	245936			AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"Defensins, beta"	18103	protein-coding gene	gene with protein product	"beta defensin 23"					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.39C>G	20.37:g.30028540C>G				Silent	SNP	NULL	p.L13	ENST00000376309.3	37	c.39	CCDS13180.1	20																																																																																			DEFB123	-	NULL		0.537	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB123	HGNC	protein_coding	OTTHUMT00000078510.2	C	NM_153324		30028540	1	no_errors	ENST00000376309	ensembl	human	known	70_37	silent	SNP	0.998	G	G	30028540	C	G	30028540	2	3	160	1	0	0	0	0	0	0	0	1	4418	900	32	1		1	DEFB123	20	30028540	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4431400	30028540	32996980	2099	30372										
ID1	3397	genome.wustl.edu	37	chr20	30193259	30193259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgcgcgctgaaggccggcaaGacagcgagcggtgcgggcga	19	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:30193259G>C	ENST00000376112.3	+	1	174	c.69G>C	c.(67-69)aaG>aaC	p.K23N	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.K23N	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	23					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGGCCGGCAAGACAGCGAGCG	0.721																																					NSCLC(123;1618 1779 21803 28680 33854)												0													12	16	15					20																	30193259		2117	4176	6293	SO:0001583	missense	3397				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"Basic helix-loop-helix proteins"	5360	protein-coding gene	gene with protein product	"DNA-binding protein inhibitor ID-1"	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.69G>C	20.37:g.30193259G>C	ENSP00000365280:p.Lys23Asn		A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K23N	ENST00000376112.3	37	c.69	CCDS13185.1	20	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591505	0.66219	.	.	ENSG00000125968	ENST00000376112;ENST00000376105	T;T	0.49139	0.81;0.79	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.38453	0.1041	N	0.22421	0.69	0.36577	D	0.873344	B;P	0.50066	0.075;0.931	B;B	0.44224	0.027;0.444	T	0.48779	-0.9005	10	0.45353	T	0.12	-27.2724	15.486	0.75569	0.0:0.0:1.0:0.0	.	23;23	P41134-2;P41134	.;ID1_HUMAN	N	23	ENSP00000365280:K23N;ENSP00000365273:K23N	ENSP00000365273:K23N	K	+	3	2	ID1	29656920	1.000000	0.71417	0.969000	0.41365	0.940000	0.58332	3.941000	0.56607	2.590000	0.87494	0.561000	0.74099	AAG	ID1	-	NULL		0.721	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID1	HGNC	protein_coding	OTTHUMT00000078550.1	G	NM_002165		30193259	1	no_errors	ENST00000376112	ensembl	human	known	70_37	missense	SNP	0.985	C	C	30193259	G	C	30193259	3	2	160	1	0	0	0	0	1	0	0	0	7509	933	33	1	71	1	ID1	20	30193259	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	164719	30193259	32832261	2100	30373										
CBFA2T2	9139	genome.wustl.edu	37	chr20	32217720	32217720	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcagattctctcagcaatGgtaaggggagagtctacggg	15	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:32217720G>A	ENST00000346541.3	+	9	1792	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	CBFA2T2_ENST00000492345.1_Splice_Site_p.D390N|CBFA2T2_ENST00000375279.2_Splice_Site_p.D419N|CBFA2T2_ENST00000397800.1_Splice_Site_p.D390N|CBFA2T2_ENST00000342704.6_Splice_Site_p.D410N|CBFA2T2_ENST00000359606.3_Splice_Site_p.D429N|CBFA2T2_ENST00000491618.1_3'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	419					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTCAGCAATGGTAAGGGGAG	0.488																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													43	42	43					20																	32217720		2203	4300	6503	SO:0001630	splice_region_variant	9139			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1255+1G>A	20.37:g.32217720G>A			B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.D419N	ENST00000346541.3	37	c.1255	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362293	0.82353	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.9;1.49	5.73	5.73	0.89815	.	0.044987	0.85682	D	0.000000	T	0.43366	0.1244	L	0.49126	1.545	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.09377	0.002;0.004	T	0.21621	-1.0240	10	0.52906	T	0.07	-19.569	20.2699	0.98469	0.0:0.0:1.0:0.0	.	419;410	O43439;F8W6D7	MTG8R_HUMAN;.	N	193;419;410;419;390;429	ENSP00000364428:D419N;ENSP00000345810:D410N;ENSP00000262653:D419N;ENSP00000380902:D390N;ENSP00000352622:D429N	ENSP00000345810:D410N	D	+	1	0	CBFA2T2	31681381	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.744000	0.85034	2.854000	0.98071	0.655000	0.94253	GAT	CBFA2T2	-	prints_MTGR1		0.488	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	G	NM_001032999	Missense_Mutation	32217720	1	no_errors	ENST00000346541	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32217720	G	A	32217720	5	1	160	1	0	0	0	0	0	0	1	0	2702	1362	47	4	1323	4	CBFA2T2	20	32217720	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2024461	32217720	30807800	2101	30374										
CBFA2T2	9139	genome.wustl.edu	37	chr20	32224462	32224462	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagattctcagagagagttCaacagcaggccaggtacagg	13	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:32224462C>T	ENST00000346541.3	+	10	1809	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	CBFA2T2_ENST00000492345.1_Silent_p.F395F|CBFA2T2_ENST00000375279.2_Silent_p.F424F|CBFA2T2_ENST00000543126.1_5'Flank|CBFA2T2_ENST00000397800.1_Silent_p.F395F|CBFA2T2_ENST00000342704.6_Silent_p.F415F|CBFA2T2_ENST00000359606.3_Silent_p.F434F|CBFA2T2_ENST00000491618.1_3'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	424					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGAGAGAGTTCAACAGCAGGC	0.413																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													156	149	151					20																	32224462		2203	4300	6503	SO:0001819	synonymous_variant	9139			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1272C>T	20.37:g.32224462C>T			B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.F424	ENST00000346541.3	37	c.1272	CCDS13221.1	20																																																																																			CBFA2T2	-	NULL		0.413	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	C	NM_001032999		32224462	1	no_errors	ENST00000346541	ensembl	human	known	70_37	silent	SNP	0.949	T	T	32224462	C	T	32224462	2	4	160	1	0	0	0	0	0	0	0	1	2702	825	29	1		1	CBFA2T2	20	32224462	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	6742	32224462	30801058	2102	30375										
C20orf134	170487	genome.wustl.edu	37	chr20	32255523	32255523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcttgcagcaggccctgcccCgcaaggccatcacacatctc	8	18	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:32255523C>T	ENST00000330271.4	+	1	1220	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	74																	GGCCCTGCCCCGCAAGGCCAT	0.672																																																	0													43	37	39					20																	32255523		2198	4297	6495	SO:0001583	missense	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 134"	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.220C>T	20.37:g.32255523C>T	ENSP00000329647:p.Arg74Cys		B9EH76	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R74C	ENST00000330271.4	37	c.220	CCDS33463.1	20	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542240	0.45280	.	.	ENSG00000182584	ENST00000330271	D	0.94828	-3.53	4.9	3.93	0.45458	.	0.152084	0.31020	N	0.008413	D	0.96549	0.8874	M	0.92604	3.325	0.41254	D	0.986733	D	0.76494	0.999	P	0.60886	0.88	D	0.95907	0.8920	10	0.87932	D	0	-27.8557	4.1209	0.10104	0.1605:0.5955:0.1554:0.0885	.	74	Q5JWF8	CT134_HUMAN	C	74	ENSP00000329647:R74C	ENSP00000329647:R74C	R	+	1	0	C20orf134	31719184	0.000000	0.05858	1.000000	0.80357	0.045000	0.14185	0.011000	0.13264	2.547000	0.85894	0.561000	0.74099	CGC	ACTL10	-	pfam_Actin-like,smart_Actin-like		0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ACTL10	HGNC	protein_coding	OTTHUMT00000078713.1	C			32255523	1	no_errors	ENST00000330271	ensembl	human	putative	70_37	missense	SNP	0.812	T	T	32255523	C	T	32255523	3	4	160	1	0	0	0	0	1	0	0	0	2092	652	23	2	222	2	C20orf134	20	32255523	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	31061	32255523	30769997	2103	30376										
TP53INP2	58476	genome.wustl.edu	37	chr20	33297290	33297290	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccgggtccccttccccgctCccggacgcggccctgcctga	11	22	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:33297290C>G	ENST00000374810.3	+	4	764	c.375C>G	c.(373-375)ctC>ctG	p.L125L	TP53INP2_ENST00000374809.2_Silent_p.L125L|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	125					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						CTTCCCCGCTCCCGGACGCGG	0.697																																																	0													21	21	21					20																	33297290		2189	4287	6476	SO:0001819	synonymous_variant	58476			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"diabetes and obesity regulated"		"chromosome 20 open reading frame 110"	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.375C>G	20.37:g.33297290C>G			A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	NULL	p.L125	ENST00000374810.3	37	c.375	CCDS13240.1	20																																																																																			TP53INP2	-	NULL		0.697	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP2	HGNC	protein_coding	OTTHUMT00000078807.2	C	NM_021202		33297290	1	no_errors	ENST00000374809	ensembl	human	known	70_37	silent	SNP	0.678	G	G	33297290	C	G	33297290	2	3	160	1	0	0	0	0	0	0	0	1	16420	842	30	1		1	TP53INP2	20	33297290	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1041767	33297290	29728230	2104	30377										
FAM83C	128876	genome.wustl.edu	37	chr20	33875238	33875238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactggaggaggggccgggaGcgaggaagcagaggtgaccc	20	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:33875238G>A	ENST00000374408.3	-	4	1440	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	448										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGGCCGGGAGCGAGGAAGCA	0.647																																																	0													38	34	35					20																	33875238		2203	4300	6503	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1344C>T	20.37:g.33875238G>A			Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.R448	ENST00000374408.3	37	c.1344	CCDS13251.1	20																																																																																			FAM83C	-	NULL		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	G			33875238	-1	no_errors	ENST00000374408	ensembl	human	known	70_37	silent	SNP	0.000	A	A	33875238	G	A	33875238	2	1	160	1	0	0	0	0	0	0	0	1	5653	958	34	4		4	FAM83C	20	33875238	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	577948	33875238	29150282	2105	30378										
FAM83C	128876	genome.wustl.edu	37	chr20	33875249	33875249	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggccgggagcgaggaagcaGaggtgaccccactgccaagg	18	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:33875249G>A	ENST00000374408.3	-	4	1429	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	445										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGAGGAAGCAGAGGTGACCCC	0.637																																																	0													47	41	43					20																	33875249		2203	4300	6503	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1333C>T	20.37:g.33875249G>A			Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.L445	ENST00000374408.3	37	c.1333	CCDS13251.1	20																																																																																			FAM83C	-	NULL		0.637	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	G			33875249	-1	no_errors	ENST00000374408	ensembl	human	known	70_37	silent	SNP	0.996	A	A	33875249	G	A	33875249	2	1	160	1	0	0	0	0	0	0	0	1	5653	933	33	1		1	FAM83C	20	33875249	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11	33875249	29150271	2106	30379										
CEP250	11190	genome.wustl.edu	37	chr20	34095599	34095599	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcaccagacgggctctggaGaaggagcggctacacagccc	13	14	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34095599G>C	ENST00000397527.1	+	31	7389	c.6669G>C	c.(6667-6669)gaG>gaC	p.E2223D	CEP250_ENST00000342580.4_Missense_Mutation_p.E2167D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2223					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGGCTCTGGAGAAGGAGCGGC	0.602																																																	0													32	27	29					20																	34095599		2182	4272	6454	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6669G>C	20.37:g.34095599G>C	ENSP00000380661:p.Glu2223Asp		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E2223D	ENST00000397527.1	37	c.6669	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308273	0.40895	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.55588	2.7;2.67;0.51	4.27	3.31	0.37934	.	0.275088	0.25951	N	0.027257	T	0.67192	0.2867	M	0.75447	2.3	0.24531	N	0.994112	D	0.71674	0.998	D	0.77557	0.99	T	0.57528	-0.7796	10	0.87932	D	0	.	7.2212	0.25988	0.1233:0.0:0.8767:0.0	.	2223	Q9BV73	CP250_HUMAN	D	2223;2167;711	ENSP00000380661:E2223D;ENSP00000341541:E2167D;ENSP00000395992:E711D	ENSP00000341541:E2167D	E	+	3	2	CEP250	33559013	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	0.935000	0.28924	1.024000	0.39682	0.579000	0.79373	GAG	CEP250	-	NULL		0.602	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	G	NM_007186		34095599	1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34095599	G	C	34095599	3	2	160	1	0	0	0	0	1	0	0	0	3257	933	33	1	6779	1	CEP250	20	34095599	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	220350	34095599	28929921	2107	30380										
SPAG4	6676	genome.wustl.edu	37	chr20	34205752	34205752	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgtgtcgctgctgagcctCtttctgtcaggtgaggggca	15	10	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34205752C>G	ENST00000374273.3	+	4	640	c.528C>G	c.(526-528)ctC>ctG	p.L176L	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	176					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGCTGAGCCTCTTTCTGTCAG	0.617																																																	0													66	62	63					20																	34205752		2203	4300	6503	SO:0001819	synonymous_variant	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.528C>G	20.37:g.34205752C>G			O43648	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L176	ENST00000374273.3	37	c.528	CCDS13259.1	20																																																																																			SPAG4	-	NULL		0.617	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	C	NM_003116		34205752	1	no_errors	ENST00000374273	ensembl	human	known	70_37	silent	SNP	1.000	G	G	34205752	C	G	34205752	2	3	160	1	0	0	0	0	0	0	0	1	15010	900	32	1		1	SPAG4	20	34205752	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	110153	34205752	28819768	2108	30381										
C20orf152	140894	genome.wustl.edu	37	chr20	34599058	34599058	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taacaagctgtcacatttcaGatccaggcctgctcagtcga	8	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34599058G>A	ENST00000373973.3	+	10	1321		c.e10-1		CNBD2_ENST00000349339.1_Splice_Site|CNBD2_ENST00000538900.1_Splice_Site			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2																		TCACATTTCAGATCCAGGCCT	0.547																																																	0													74	68	70					20																	34599058		2203	4300	6503	SO:0001630	splice_region_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1149-1G>A	20.37:g.34599058G>A			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Splice_Site	SNP	-	e10-1	ENST00000373973.3	37	c.1149-1		20	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396079	0.62177	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5533	0.56240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C20orf152	34062472	0.999000	0.42202	1.000000	0.80357	0.644000	0.38419	2.244000	0.43124	2.673000	0.90976	0.655000	0.94253	.	CNBD2	-	-		0.547	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834	Intron	34599058	1	no_errors	ENST00000373973	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	34599058	G	A	34599058	5	1	160	1	0	0	0	0	0	0	1	0	2097	956	33	1	1186	1	C20orf152	20	34599058	Splice_Site	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	393306	34599058	28426462	2109	30382										
C20orf152	140894	genome.wustl.edu	37	chr20	34618306	34618306	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatatgtgccagaagttcctCcagcagaacagctggaatat	10	9	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:34618306C>G	ENST00000373973.3	+	12	1640	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Silent_p.L485L			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	489																	AGAAGTTCCTCCAGCAGAACA	0.557																																																	0													104	101	102					20																	34618306		2203	4300	6503	SO:0001819	synonymous_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1467C>G	20.37:g.34618306C>G			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L489	ENST00000373973.3	37	c.1467		20																																																																																			CNBD2	-	NULL		0.557	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	C	NM_080834		34618306	1	no_errors	ENST00000373973	ensembl	human	known	70_37	silent	SNP	0.116	G	G	34618306	C	G	34618306	2	3	160	1	0	0	0	0	0	0	0	1	2097	842	30	1		1	C20orf152	20	34618306	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	19248	34618306	28407214	2110	30383										
TGIF2	60436	genome.wustl.edu	37	chr20	35207298	35207298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggactggctgtacttgcacCgctacaacgcctacccctca	9	16	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:35207298C>T	ENST00000373874.2	+	2	320	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R41C|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R41C	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	41					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTACTTGCACCGCTACAACGC	0.602																																																	0													123	103	110					20																	35207298		2203	4300	6503	SO:0001583	missense	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.121C>T	20.37:g.35207298C>T	ENSP00000362981:p.Arg41Cys		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R41C	ENST00000373874.2	37	c.121	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213797	0.79352	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.91521	-2.86;-2.86	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95056	0.8399	M	0.77616	2.38	0.39887	D	0.973718	D	0.89917	1.0	D	0.87578	0.998	D	0.95932	0.8939	10	0.66056	D	0.02	-15.2248	15.8254	0.78703	0.0:1.0:0.0:0.0	.	41	Q9GZN2	TGIF2_HUMAN	C	41	ENSP00000362981:R41C;ENSP00000362979:R41C	ENSP00000362979:R41C	R	+	1	0	TGIF2	34640712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.624000	0.54231	2.316000	0.78162	0.561000	0.74099	CGC	TGIF2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.602	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	C	NM_021809		35207298	1	no_errors	ENST00000373872	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35207298	C	T	35207298	3	4	160	1	0	0	0	0	1	0	0	0	15856	652	23	2	123	2	TGIF2	20	35207298	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	588992	35207298	27818222	2111	30384										
C20orf24	55969	genome.wustl.edu	37	chr20	35238065	35238065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaattacctacagattgatGaggaagaatatggtggcacg	12	6	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:35238065G>A	ENST00000373852.5	+	3	415	c.280G>A	c.(280-282)Gag>Aag	p.E94K	C20orf24_ENST00000344795.3_Missense_Mutation_p.E94K|C20orf24_ENST00000342422.3_Intron|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.E120K			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	94										breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACAGATTGATGAGGAAGAATA	0.428																																																	0													349	287	308					20																	35238065		2203	4300	6503	SO:0001583	missense	55969			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.280G>A	20.37:g.35238065G>A	ENSP00000362958:p.Glu94Lys		E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	NULL	p.E94K	ENST00000373852.5	37	c.280	CCDS56190.1	20	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852601	0.71719	.	.	ENSG00000101084	ENST00000344795;ENST00000373852	.	.	.	5.89	4.94	0.65067	.	.	.	.	.	D	0.83760	0.5324	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79784	0.993;0.921;0.988	D	0.86803	0.1993	8	0.66056	D	0.02	.	14.1735	0.65525	0.0:0.0:0.849:0.151	.	94;94;94	Q9BUV8;Q9BUV8-2;Q9BUV8-3	CT024_HUMAN;.;.	K	94	.	ENSP00000340164:E94K	E	+	1	0	C20orf24	34671479	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	9.363000	0.97131	1.480000	0.48289	-0.181000	0.13052	GAG	C20orf24	-	NULL		0.428	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	HGNC	protein_coding	OTTHUMT00000079006.1	G	NM_018840		35238065	1	no_errors	ENST00000373852	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35238065	G	A	35238065	3	1	160	1	0	0	0	0	1	0	0	0	2110	1291	45	1	290	1	C20orf24	20	35238065	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	30767	35238065	27787455	2112	30385										
ACTR5	79913	genome.wustl.edu	37	chr20	37377191	37377191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagtgctggaggccggcccgGtggcacacgggccactgccg	17	15	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:37377191G>A	ENST00000243903.4	+	1	107	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	24					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGCCGGCCCGGTGGCACACGG	0.746																																																	0													4	5	4					20																	37377191		1339	2446	3785	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.70G>A	20.37:g.37377191G>A	ENSP00000243903:p.Val24Met		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.V24M	ENST00000243903.4	37	c.70	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737775	0.15574	.	.	ENSG00000101442	ENST00000243903	D	0.96041	-3.89	4.3	2.23	0.28157	.	0.825816	0.11487	N	0.559108	D	0.89646	0.6775	L	0.34521	1.04	0.09310	N	1	B	0.29805	0.257	B	0.21360	0.034	T	0.81221	-0.1031	10	0.45353	T	0.12	-6.5341	5.0453	0.14480	0.0854:0.1423:0.6255:0.1469	.	24	Q9H9F9	ARP5_HUMAN	M	24	ENSP00000243903:V24M	ENSP00000243903:V24M	V	+	1	0	ACTR5	36810605	0.001000	0.12720	0.074000	0.20217	0.224000	0.24922	0.447000	0.21710	0.494000	0.27859	0.555000	0.69702	GTG	ACTR5	-	NULL		0.746	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	G	NM_024855		37377191	1	no_errors	ENST00000243903	ensembl	human	known	70_37	missense	SNP	0.002	A	A	37377191	G	A	37377191	3	1	160	1	0	0	0	0	1	0	0	0	215	1261	44	4	72	4	ACTR5	20	37377191	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2139126	37377191	25648329	2113	30386										
DHX35	60625	genome.wustl.edu	37	chr20	37653956	37653956	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgactgtaagagaacaattGaaaaagcttcttgtcaagtt	9	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:37653956G>A	ENST00000252011.3	+	18	1788	c.1755G>A	c.(1753-1755)ttG>ttA	p.L585L	DHX35_ENST00000373323.4_Silent_p.L554L|DHX35_ENST00000373325.2_Silent_p.L585L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	585					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGAACAATTGAAAAAGCTTC	0.448																																																	0													192	200	197					20																	37653956		2203	4300	6503	SO:0001819	synonymous_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1755G>A	20.37:g.37653956G>A			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L585	ENST00000252011.3	37	c.1755	CCDS13310.1	20																																																																																			DHX35	-	pfam_DUF1605		0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	G	NM_021931		37653956	1	no_errors	ENST00000252011	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37653956	G	A	37653956	2	1	160	1	0	0	0	0	0	0	0	1	4518	1281	45	1		1	DHX35	20	37653956	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	276765	37653956	25371564	2114	30387										
PTPRT	11122	genome.wustl.edu	37	chr20	40713456	40713456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggccagccaatgtactggagGtgctggactatacgataacc	12	10	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:40713456G>T	ENST00000373187.1	-	29	4001	c.4002C>A	c.(4000-4002)caC>caA	p.H1334Q	PTPRT_ENST00000373198.4_Missense_Mutation_p.H1353Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.H1324Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.H1333Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.H1344Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.H1337Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1343Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1334	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTACTGGAGGTGCTGGACTA	0.582																																																	0													64	69	67					20																	40713456		2071	4194	6265	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4002C>A	20.37:g.40713456G>T	ENSP00000362283:p.His1334Gln		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.H1356Q	ENST00000373187.1	37	c.4068	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	8.168	0.790968	0.16258	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.55	2.27	0.28462	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	N	0.04297	-0.235	0.54753	D	0.999987	B;B	0.22909	0.077;0.005	B;B	0.28465	0.09;0.026	T	0.32241	-0.9914	10	0.02654	T	1	.	8.918	0.35594	0.3286:0.0:0.6714:0.0	.	1356;1334	O14522-1;O14522	.;PTPRT_HUMAN	Q	1333;1334;1337;1343;1356;1344;1324	ENSP00000362286:H1333Q;ENSP00000362283:H1334Q;ENSP00000362289:H1337Q;ENSP00000348408:H1343Q;ENSP00000362294:H1356Q;ENSP00000362280:H1344Q;ENSP00000362297:H1324Q	ENSP00000348408:H1343Q	H	-	3	2	PTPRT	40146870	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.225000	0.17757	0.327000	0.23409	0.655000	0.94253	CAC	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40713456	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40713456	G	T	40713456	3	4	160	1	0	0	0	0	1	0	0	0	12842	1252	44	4	335	4	PTPRT	20	40713456	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3059500	40713456	22312064	2115	30388										
SFRS6	6431	genome.wustl.edu	37	chr20	42089540	42089540	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggaaagggtgatataaagtCaaaatccagatcaaggagcc	11	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:42089540C>G	ENST00000244020.3	+	6	978	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	291	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GATATAAAGTCAAAATCCAGA	0.483																																																	0													72	72	72					20																	42089540		2203	4300	6503	SO:0001587	stop_gained	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.872C>G	20.37:g.42089540C>G	ENSP00000244020:p.Ser291*		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.S291*	ENST00000244020.3	37	c.872	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.944793	0.97134	.	.	ENSG00000124193	ENST00000244020	.	.	.	5.93	5.93	0.95920	.	0.181621	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000244020:S291X	S	+	2	0	SRSF6	41522954	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.638000	0.46562	2.803000	0.96430	0.585000	0.79938	TCA	SRSF6	-	NULL		0.483	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	C	NM_006275		42089540	1	no_errors	ENST00000244020	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	42089540	C	G	42089540	4	3	160	1	0	0	0	0	0	1	0	0	14211	838	29	1	894	1	SFRS6	20	42089540	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1376084	42089540	20935980	2116	30389										
MYBL2	4605	genome.wustl.edu	37	chr20	42331337	42331338	+	Missense_Mutation	DNP	GG	GG	AA													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctgagccggagcagccggGgcgagctgatccccatctcc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:42331337_42331338GG>AA	ENST00000217026.4	+	8	1286_1287	c.1159_1160GG>AA	c.(1159-1161)GGc>AAc	p.G387N	MYBL2_ENST00000396863.4_Missense_Mutation_p.G363N	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	387					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGCAGCCGGGGCGAGCTGATC	0.673																																																	0																																										SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	Exception_encountered	20.37:g.42331337_42331338delinsAA	ENSP00000217026:p.Gly387Asn		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.G387S|p.G387D	ENST00000217026.4	37	c.1159|c.1160	CCDS13322.1	20																																																																																			MYBL2	-	NULL		0.673	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	G	NM_002466		42331337|42331338	1	no_errors	ENST00000217026	ensembl	human	known	70_37	missense	SNP	1.000	A	AA	42331338	GG	AA	42331337	3	1	160	1	0	0	0	0	1	0	0	0	10033	1232	43	4	1189	4	MYBL2	20	42331337	Missense_Mutation	DNP	GG	TCGA-JW-A5VL-01A-11D-A28B-09	241797	42331337	20694183	2117	30390										
TP53TG5	27296	genome.wustl.edu	37	chr20	44002607	44002607	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcagctgatggcgcgatctCcaccctctgctcgcacctct	8	17	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:44002607C>G	ENST00000372726.3	-	5	969	c.813G>C	c.(811-813)tgG>tgC	p.W271C	SYS1_ENST00000426004.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.W255C|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	271					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCGCGATCTCCACCCTCTGC	0.552											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													161	132	142					20																	44002607		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.813G>C	20.37:g.44002607C>G	ENSP00000361811:p.Trp271Cys	920		Missense_Mutation	SNP	NULL	p.W271C	ENST00000372726.3	37	c.813	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184907	0.38609	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.10192	2.9;2.9	4.37	1.23	0.21249	.	1.820450	0.03335	N	0.194009	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.37009	-0.9724	10	0.87932	D	0	1.4998	3.0047	0.06025	0.1832:0.541:0.1775:0.0983	.	271	Q9Y2B4	T53G5_HUMAN	C	271;255	ENSP00000361811:W271C;ENSP00000438374:W255C	ENSP00000361811:W271C	W	-	3	0	TP53TG5	43436021	0.001000	0.12720	0.003000	0.11579	0.100000	0.18952	0.455000	0.21843	0.314000	0.23086	0.655000	0.94253	TGG	TP53TG5	-	NULL		0.552	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	C	NM_014477		44002607	-1	no_errors	ENST00000372726	ensembl	human	known	70_37	missense	SNP	0.004	G	G	44002607	C	G	44002607	3	3	160	1	0	0	0	0	1	0	0	0	16422	856	30	1	63	1	TP53TG5	20	44002607	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1671270	44002607	19022913	2118	30391										
TP53TG5	27296	genome.wustl.edu	37	chr20	44002619	44002619	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cgcgatctccaccctctgctCgcacctctggctctcgtcca	7	20	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:44002619C>G	ENST00000372726.3	-	5	957	c.801G>C	c.(799-801)gcG>gcC	p.A267A	SYS1_ENST00000426004.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.A251A|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	267					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ACCCTCTGCTCGCACCTCTGG	0.567											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													145	119	128					20																	44002619		2203	4300	6503	SO:0001819	synonymous_variant	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.801G>C	20.37:g.44002619C>G		920		Silent	SNP	NULL	p.A267	ENST00000372726.3	37	c.801	CCDS13352.1	20																																																																																			TP53TG5	-	NULL		0.567	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	C	NM_014477		44002619	-1	no_errors	ENST00000372726	ensembl	human	known	70_37	silent	SNP	0.000	G	G	44002619	C	G	44002619	2	3	160	1	0	0	0	0	0	0	0	1	16422	871	31	1		1	TP53TG5	20	44002619	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	12	44002619	19022901	2119	30392										
B4GALT5	9334	genome.wustl.edu	37	chr20	48260132	48260132	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggttgggtctttggagaaGagttcatgaatgtaatccat	12	4	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:48260132G>C	ENST00000371711.4	-	4	607	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	140					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTTTGGAGAAGAGTTCATGAA	0.458																																																	0													198	175	183					20																	48260132		2203	4300	6503	SO:0001819	synonymous_variant	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.420C>G	20.37:g.48260132G>C			E1P625|Q2M394|Q9UJQ8	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.L140	ENST00000371711.4	37	c.420	CCDS13420.1	20																																																																																			B4GALT5	-	pfam_Galactosyl_T_2_met		0.458	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	G	NM_004776		48260132	-1	no_errors	ENST00000371711	ensembl	human	known	70_37	silent	SNP	0.937	C	C	48260132	G	C	48260132	2	2	160	1	0	0	0	0	0	0	0	1	1275	929	33	1		1	B4GALT5	20	48260132	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4257513	48260132	14765388	2120	30393										
SPO11	23626	genome.wustl.edu	37	chr20	55917854	55917854	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgaaacttgacagtatcctGaggagaccttatgttacctg	9	8	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:55917854G>C	ENST00000371263.3	+	12	1138	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	SPO11_ENST00000371260.4_Silent_p.L301L|SPO11_ENST00000345868.4_Silent_p.L305L	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	343					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ACAGTATCCTGAGGAGACCTT	0.333								Editing and processing nucleases																																									0													96	86	89					20																	55917854		2203	4299	6502	SO:0001819	synonymous_variant	23626			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.1029G>C	20.37:g.55917854G>C			Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.L343	ENST00000371263.3	37	c.1029	CCDS13456.1	20																																																																																			SPO11	-	superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11		0.333	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	G	NM_012444		55917854	1	no_errors	ENST00000371263	ensembl	human	known	70_37	silent	SNP	0.998	C	C	55917854	G	C	55917854	2	2	160	1	0	0	0	0	0	0	0	1	15107	1277	45	1		1	SPO11	20	55917854	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7657722	55917854	7107666	2121	30394										
GNAS	2778	genome.wustl.edu	37	chr20	57428722	57428722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgcaggccttgaggccttCggcccagcactcatggagcc	12	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:57428722C>T	ENST00000306120.3	+	1	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L	GNAS_ENST00000371099.2_Silent_p.F134F|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371100.4_Silent_p.F134F|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371102.4_Silent_p.F134F|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTGAGGCCTTCGGCCCAGCAC	0.617			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													30	35	33					20																	57428722		1886	4116	6002	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.212C>T	20.37:g.57428722C>T	ENSP00000302237:p.Ser71Leu		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.S71L	ENST00000306120.3	37	c.212		20	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454760	0.12283	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.6	-1.99	0.07457	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39901	-0.9591	5	0.72032	D	0.01	.	4.3842	0.11309	0.0:0.3557:0.308:0.3364	.	.	.	.	L	71	.	ENSP00000302237:S71L	S	+	2	0	GNAS	56862117	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.977000	0.03782	-0.412000	0.07519	-0.355000	0.07637	TCG	GNAS	-	NULL		0.617	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1	C	NM_000516		57428722	1	no_errors	ENST00000306120	ensembl	human	putative	70_37	missense	SNP	0.000	T	T	57428722	C	T	57428722	3	4	160	1	0	0	0	0	1	0	0	0	6529	893	31	1	1146	1	GNAS	20	57428722	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1510868	57428722	5596798	2122	30395										
EEF1A2	1917	genome.wustl.edu	37	chr20	62126344	62126344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acgcccacgatgagctgcttCacacccagcgtgtaggccag	11	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr20:62126344C>T	ENST00000298049.7	-	3	505	c.435G>A	c.(433-435)gtG>gtA	p.V145V	EEF1A2_ENST00000217182.3_Silent_p.V145V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	145	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGAGCTGCTTCACACCCAGCG	0.622																																																	0													102	89	93					20																	62126344		2203	4299	6502	SO:0001819	synonymous_variant	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.435G>A	20.37:g.62126344C>T			B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.V145	ENST00000298049.7	37	c.435	CCDS13522.1	20																																																																																			EEF1A2	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.622	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	C	NM_001958		62126344	-1	no_errors	ENST00000217182	ensembl	human	known	70_37	silent	SNP	1.000	T	T	62126344	C	T	62126344	2	4	160	1	0	0	0	0	0	0	0	1	4934	813	29	1		1	EEF1A2	20	62126344	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4697622	62126344	899176	2123	30396										
POTED	317754	genome.wustl.edu	37	chr21	15003385	15003385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaaggaggagcagaaaacctGaaaatcagcaatttcctgac	9	8	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:15003385G>A	ENST00000299443.5	+	9	1418	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	456						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAAAACCTGAAAATCAGCA	0.398																																																	0													1	1	1					21																	15003385		22	67	89	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1366G>A	21.37:g.15003385G>A	ENSP00000299443:p.Glu456Lys		C9JCF7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E456K	ENST00000299443.5	37	c.1366	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	G	5.212	0.224612	0.09916	.	.	ENSG00000166351	ENST00000299443	T	0.17528	2.27	1.34	0.407	0.16371	.	.	.	.	.	T	0.13500	0.0327	M	0.63428	1.95	0.09310	N	1	B	0.31931	0.347	B	0.20577	0.03	T	0.20605	-1.0270	9	0.42905	T	0.14	.	3.6786	0.08302	0.2594:0.0:0.7406:0.0	.	456	Q86YR6	POTED_HUMAN	K	456	ENSP00000299443:E456K	ENSP00000299443:E456K	E	+	1	0	POTED	13925256	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.257000	0.08745	0.151000	0.19162	0.121000	0.15741	GAA	POTED	-	NULL		0.398	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	G	NM_174981		15003385	1	no_errors	ENST00000299443	ensembl	human	known	70_37	missense	SNP	0.001	A	A	15003385	G	A	15003385	3	1	160	1	0	0	0	0	1	0	0	0	12287	1291	45	1	1400	1	POTED	21	15003385	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		15003385	33126510	2124	30397										
SAMSN1	64092	genome.wustl.edu	37	chr21	15884885	15884885	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggtgggcattctctccatCttcctcatccttcagaaaac	7	13	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:15884885C>G	ENST00000400566.1	-	4	370	c.289G>C	c.(289-291)Gat>Cat	p.D97H	SAMSN1_ENST00000285670.2_Missense_Mutation_p.D165H|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	97					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTCTCTCCATCTTCCTCATCC	0.423																																																	0													155	149	151					21																	15884885		1899	4122	6021	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.289G>C	21.37:g.15884885C>G	ENSP00000383411:p.Asp97His		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.D97H	ENST00000400566.1	37	c.289	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	C	14.97	2.692977	0.48202	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.42131	0.98;0.98	5.72	3.85	0.44370	.	0.644296	0.16275	N	0.221603	T	0.54902	0.1887	L	0.57536	1.79	0.25032	N	0.991266	P;D	0.56746	0.911;0.977	P;P	0.60609	0.66;0.877	T	0.45948	-0.9226	10	0.62326	D	0.03	-22.9438	10.3184	0.43751	0.0:0.7884:0.1367:0.0749	.	165;97	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	H	165;97	ENSP00000285670:D165H;ENSP00000383411:D97H	ENSP00000285670:D165H	D	-	1	0	SAMSN1	14806756	0.991000	0.36638	0.995000	0.50966	0.757000	0.42996	1.807000	0.38902	0.712000	0.32039	0.650000	0.86243	GAT	SAMSN1	-	pfam_rSAM/SH3_domain-containing		0.423	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	C			15884885	-1	no_errors	ENST00000400566	ensembl	human	known	70_37	missense	SNP	0.996	G	G	15884885	C	G	15884885	3	3	160	1	0	0	0	0	1	0	0	0	13860	913	32	1	852	1	SAMSN1	21	15884885	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	881500	15884885	32245010	2125	30398										
CYYR1	116159	genome.wustl.edu	37	chr21	27852628	27852628	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgttgatgtgagtcgtcctGaggatgcccacgcgggtcgc	16	10	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:27852628G>C	ENST00000299340.4	-	3	640	c.297C>G	c.(295-297)ctC>ctG	p.L99L	CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Silent_p.L99L|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	99						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAGTCGTCCTGAGGATGCCCA	0.498																																																	0													141	128	132					21																	27852628		2203	4300	6503	SO:0001819	synonymous_variant	116159			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"cysteine and tyrosine-rich 1"	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.297C>G	21.37:g.27852628G>C			A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	pfam_CYYR1	p.L99	ENST00000299340.4	37	c.297	CCDS13578.1	21																																																																																			CYYR1	-	pfam_CYYR1		0.498	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYYR1	HGNC	protein_coding	OTTHUMT00000171654.2	G	NM_052954		27852628	-1	no_errors	ENST00000299340	ensembl	human	known	70_37	silent	SNP	1.000	C	C	27852628	G	C	27852628	2	2	160	1	0	0	0	0	0	0	0	1	4216	1277	45	1		1	CYYR1	21	27852628	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11967743	27852628	20277267	2126	30399										
TIAM1	7074	genome.wustl.edu	37	chr21	32554751	32554751	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccatacctgggttgctggtGagaaaggcgagggggctctc	17	9	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:32554751G>C	ENST00000286827.3	-	16	3345	c.2874C>G	c.(2872-2874)ctC>ctG	p.L958L	TIAM1_ENST00000541036.1_Silent_p.L898L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	958					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGTTGCTGGTGAGAAAGGCGA	0.642																																																	0													15	17	16					21																	32554751		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2874C>G	21.37:g.32554751G>C			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L958	ENST00000286827.3	37	c.2874	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.642	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32554751	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	1.000	C	C	32554751	G	C	32554751	2	2	160	1	0	0	0	0	0	0	0	1	15920	1277	45	1		1	TIAM1	21	32554751	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4702123	32554751	15575144	2127	30400										
ITSN1	6453	genome.wustl.edu	37	chr21	35257379	35257379	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaaaatcaaagctgcttctGaactctacatagagactgag	8	8	3	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:35257379G>A	ENST00000381318.3	+	37	4999	c.4711G>A	c.(4711-4713)Gaa>Aaa	p.E1571K	ITSN1_ENST00000437442.2_Missense_Mutation_p.E1510K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1571K|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1566K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1571	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTGCTTCTGAACTCTACAT	0.517																																																	0													85	83	84					21																	35257379		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4711G>A	21.37:g.35257379G>A	ENSP00000370719:p.Glu1571Lys		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1571K	ENST00000381318.3	37	c.4711	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766419	0.90020	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.987;0.987	T	0.77008	-0.2747	10	0.49607	T	0.09	.	19.9456	0.97181	0.0:0.0:1.0:0.0	.	1510;1566;1571	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	K	1571;1571;1500;1566;1510;107	ENSP00000370719:E1571K;ENSP00000370685:E1571K;ENSP00000382301:E1566K;ENSP00000387377:E1510K;ENSP00000409800:E107K	ENSP00000370685:E1571K	E	+	1	0	ITSN1	34179249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.340000	0.97038	2.782000	0.95742	0.655000	0.94253	GAA	ITSN1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35257379	1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35257379	G	A	35257379	3	1	160	1	0	0	0	0	1	0	0	0	7946	1291	45	1	4859	1	ITSN1	21	35257379	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2702628	35257379	12872516	2128	30401										
KCNE2	9992	genome.wustl.edu	37	chr21	35742901	35742901	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggccctccaagccaaagttGatgctgagaacttctactat	8	11	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:35742901G>C	ENST00000290310.3	+	2	264	c.124G>C	c.(124-126)Gat>Cat	p.D42H	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	42					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						AGCCAAAGTTGATGCTGAGAA	0.458																																																	0													150	144	146					21																	35742901		2203	4300	6503	SO:0001583	missense	9992			AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"Potassium channels"	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.124G>C	21.37:g.35742901G>C	ENSP00000290310:p.Asp42His		A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE2	p.D42H	ENST00000290310.3	37	c.124	CCDS13635.1	21	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279469	0.40294	.	.	ENSG00000159197	ENST00000290310	D	0.91894	-2.93	5.53	4.45	0.53987	.	0.233834	0.34676	N	0.003779	D	0.91670	0.7367	L	0.36672	1.1	0.09310	N	1	D	0.55605	0.972	P	0.57620	0.824	D	0.85271	0.1056	10	0.72032	D	0.01	-8.3213	11.4923	0.50387	0.1564:0.0:0.8436:0.0	.	42	Q9Y6J6	KCNE2_HUMAN	H	42	ENSP00000290310:D42H	ENSP00000290310:D42H	D	+	1	0	KCNE2	34664771	0.134000	0.22483	0.071000	0.20095	0.482000	0.33219	1.907000	0.39897	2.588000	0.87417	0.561000	0.74099	GAT	KCNE2	-	prints_K_chnl_volt-dep_bsu_KCNE2		0.458	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE2	HGNC	protein_coding	OTTHUMT00000194068.2	G			35742901	1	no_errors	ENST00000290310	ensembl	human	known	70_37	missense	SNP	0.019	C	C	35742901	G	C	35742901	3	2	160	1	0	0	0	0	1	0	0	0	8043	1290	45	1	126	1	KCNE2	21	35742901	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	485522	35742901	12386994	2129	30402										
DYRK1A	1859	genome.wustl.edu	37	chr21	38862731	38862731	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagtgcaatcaagatagttGactttggcagttcttgtcag	11	7	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:38862731G>A	ENST00000398960.2	+	6	994	c.919G>A	c.(919-921)Gac>Aac	p.D307N	DYRK1A_ENST00000398956.2_Missense_Mutation_p.D307N|DYRK1A_ENST00000339659.4_Missense_Mutation_p.D298N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D307N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D79N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D307N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D307N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAAGATAGTTGACTTTGGCAG	0.378																																					Melanoma(114;464 1602 31203 43785 45765)												0													79	78	79					21																	38862731		2203	4299	6502	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.919G>A	21.37:g.38862731G>A	ENSP00000381932:p.Asp307Asn		O60769|Q92582|Q92810|Q9UNM5	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.D307N	ENST00000398960.2	37	c.919	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	36	5.600927	0.96614	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999	D	0.98338	1.0537	10	0.87932	D	0	.	20.2989	0.98608	0.0:0.0:1.0:0.0	.	307;307;307;298;307	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	307;298;307;307;307;307;79	ENSP00000342690:D307N;ENSP00000340373:D298N;ENSP00000319032:D307N;ENSP00000416089:D307N;ENSP00000381932:D307N;ENSP00000381929:D307N;ENSP00000407854:D79N	ENSP00000319032:D307N	D	+	1	0	DYRK1A	37784601	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.767000	0.98960	2.794000	0.96219	0.573000	0.79308	GAC	DYRK1A	-	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		0.378	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	G	NM_001396		38862731	1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38862731	G	A	38862731	3	1	160	1	0	0	0	0	1	0	0	0	4864	1290	45	1	941	1	DYRK1A	21	38862731	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3119830	38862731	9267164	2130	30403										
KCNJ6	3763	genome.wustl.edu	37	chr21	39087250	39087250	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtagcgataggtctccctCacgttgccgtgatgaacatt	11	10	2	2	rs377354413		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:39087250C>G	ENST00000609713.1	-	3	799	c.210G>C	c.(208-210)gtG>gtC	p.V70V	KCNJ6_ENST00000288309.6_Silent_p.V70V|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	70					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGGTCTCCCTCACGTTGCCGT	0.478																																					Pancreas(48;379 1118 2936 19024 28214)												0													258	241	247					21																	39087250		2032	4173	6205	SO:0001819	synonymous_variant	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.210G>C	21.37:g.39087250C>G			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.V70	ENST00000609713.1	37	c.210	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.478	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39087250	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	silent	SNP	1.000	G	G	39087250	C	G	39087250	2	3	160	1	0	0	0	0	0	0	0	1	8075	813	29	1		1	KCNJ6	21	39087250	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	224519	39087250	9042645	2131	30404										
MX2	4600	genome.wustl.edu	37	chr21	42762503	42762503	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggcatcagatcaaggctctCatcaagaagtacatccagag	9	10	4	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:42762503C>T	ENST00000330714.3	+	6	928	c.744C>T	c.(742-744)ctC>ctT	p.L248L	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	248	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAAGGCTCTCATCAAGAAGT	0.557																																																	0													276	220	239					21																	42762503		2203	4300	6503	SO:0001819	synonymous_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.744C>T	21.37:g.42762503C>T			B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.L248	ENST00000330714.3	37	c.744	CCDS13672.1	21																																																																																			MX2	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase		0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	C	NM_002463		42762503	1	no_errors	ENST00000330714	ensembl	human	known	70_37	silent	SNP	0.998	T	T	42762503	C	T	42762503	2	4	160	1	0	0	0	0	0	0	0	1	10021	813	29	1		1	MX2	21	42762503	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3675253	42762503	5367392	2132	30405										
AIRE	326	genome.wustl.edu	37	chr21	45709596	45709596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctacactcccagcaagttcGaagactccggcagtgggaag	11	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:45709596G>A	ENST00000291582.5	+	6	836	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	AIRE_ENST00000355347.4_5'Flank|AIRE_ENST00000329347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	237	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAGCAAGTTCGAAGACTCCGG	0.662									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													46	53	50					21																	45709596		2203	4298	6501	SO:0001583	missense	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.709G>A	21.37:g.45709596G>A	ENSP00000291582:p.Glu237Lys		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.E237K	ENST00000291582.5	37	c.709	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560909	0.45590	.	.	ENSG00000160224	ENST00000291582	T	0.67865	-0.29	4.12	3.19	0.36642	SAND domain-like (2);SAND domain (3);	0.132398	0.33631	N	0.004708	T	0.77116	0.4083	M	0.67953	2.075	0.43540	D	0.995837	D	0.89917	1.0	D	0.83275	0.996	T	0.76173	-0.3056	10	0.48119	T	0.1	-42.7415	10.0972	0.42482	0.0:0.2062:0.7938:0.0	.	237	O43918	AIRE_HUMAN	K	237	ENSP00000291582:E237K	ENSP00000291582:E237K	E	+	1	0	AIRE	44534024	1.000000	0.71417	0.060000	0.19600	0.008000	0.06430	4.232000	0.58645	0.981000	0.38548	0.591000	0.81541	GAA	AIRE	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom,prints_AIRE		0.662	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	G			45709596	1	no_errors	ENST00000291582	ensembl	human	known	70_37	missense	SNP	0.448	A	A	45709596	G	A	45709596	3	1	160	1	0	0	0	0	1	0	0	0	437	1059	37	1	731	1	AIRE	21	45709596	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2947093	45709596	2420299	2133	30406										
KRTAP10-7	386675	genome.wustl.edu	37	chr21	46021247	46021247	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctgtctgctgcaagcccgtCtgctgtgtgcccacctgctc	10	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:46021247C>T	ENST00000380102.2	+	1	751	c.726C>T	c.(724-726)gtC>gtT	p.V242V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	242	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCAAGCCCGTCTGCTGTGTGC	0.662																																																	0													149	146	147					21																	46021247		2203	4300	6503	SO:0001819	synonymous_variant	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.726C>T	21.37:g.46021247C>T			Q0VDJ8|Q70LJ2	Silent	SNP	NULL	p.V242	ENST00000380102.2	37	c.726		21																																																																																			KRTAP10-7	-	NULL		0.662	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	C	NM_198689		46021247	1	no_errors	ENST00000380102	ensembl	human	known	70_37	silent	SNP	0.932	T	T	46021247	C	T	46021247	2	4	160	1	0	0	0	0	0	0	0	1	8534	900	32	1		1	KRTAP10-7	21	46021247	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	311651	46021247	2108648	2134	30407										
PTTG1IP	754	genome.wustl.edu	37	chr21	46285354	46285354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaggttttgtttgtgttctGagaacaagctgcaggaaaga	12	5	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:46285354G>C	ENST00000330938.3	-	2	344	c.124C>G	c.(124-126)Cag>Gag	p.Q42E	PTTG1IP_ENST00000397887.3_Missense_Mutation_p.Q42E|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Missense_Mutation_p.Q42E	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	42	PSI.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TTTGTGTTCTGAGAACAAGCT	0.522																																																	0													158	118	131					21																	46285354		2203	4300	6503	SO:0001583	missense	754			AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.124C>G	21.37:g.46285354G>C	ENSP00000328325:p.Gln42Glu		B2RDP7|D3DSL9|Q9NS09	Missense_Mutation	SNP	smart_Plexin-like	p.Q42E	ENST00000330938.3	37	c.124	CCDS13715.1	21	.	.	.	.	.	.	.	.	.	.	G	3.287	-0.145753	0.06627	.	.	ENSG00000183255	ENST00000397887;ENST00000330938;ENST00000445724	T;T;T	0.54071	0.59;0.59;1.0	4.67	-0.129	0.13502	.	0.524971	0.18857	N	0.129236	T	0.28466	0.0704	N	0.16743	0.435	0.09310	N	1	B;B	0.28178	0.202;0.001	B;B	0.25140	0.058;0.003	T	0.25813	-1.0121	10	0.06625	T	0.88	-0.0037	11.3331	0.49487	0.0823:0.4635:0.4542:0.0	.	42;42	B4DPZ0;P53801	.;PTTG_HUMAN	E	42	ENSP00000380984:Q42E;ENSP00000328325:Q42E;ENSP00000395374:Q42E	ENSP00000328325:Q42E	Q	-	1	0	PTTG1IP	45109782	0.124000	0.22315	0.595000	0.28798	0.895000	0.52256	0.672000	0.25187	0.024000	0.15214	0.558000	0.71614	CAG	PTTG1IP	-	smart_Plexin-like		0.522	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1IP	HGNC	protein_coding	OTTHUMT00000206553.1	G			46285354	-1	no_errors	ENST00000330938	ensembl	human	known	70_37	missense	SNP	0.043	C	C	46285354	G	C	46285354	3	2	160	1	0	0	0	0	1	0	0	0	12850	1299	45	1	438	1	PTTG1IP	21	46285354	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	264107	46285354	1844541	2135	30408										
ADARB1	104	genome.wustl.edu	37	chr21	46596439	46596439	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcgtggatggtcagttctttGaaggctcggggagaaacaag	15	6	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:46596439G>C	ENST00000360697.3	+	2	838	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	ADARB1_ENST00000389863.4_Missense_Mutation_p.E275Q|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.E275Q|ADARB1_ENST00000539173.1_Missense_Mutation_p.E275Q			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	275	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCAGTTCTTTGAAGGCTCGGG	0.577																																																	0													75	75	75					21																	46596439		2203	4300	6503	SO:0001583	missense	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.823G>C	21.37:g.46596439G>C	ENSP00000353920:p.Glu275Gln		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.E275Q	ENST00000360697.3	37	c.823	CCDS33589.1	21	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488331	0.64074	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.28	5.28	0.74379	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.050496	0.85682	D	0.000000	T	0.69753	0.3146	L	0.31476	0.935	0.80722	D	1	B;B;B;B;B	0.31459	0.136;0.046;0.012;0.01;0.324	B;B;B;B;B	0.39299	0.096;0.11;0.04;0.026;0.296	T	0.68368	-0.5427	10	0.40728	T	0.16	-28.6091	16.7859	0.85574	0.0:0.0:1.0:0.0	.	302;275;275;303;275	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	Q	275	ENSP00000441897:E275Q;ENSP00000374513:E275Q;ENSP00000015877:E275Q;ENSP00000353920:E275Q	ENSP00000015877:E275Q	E	+	1	0	ADARB1	45420867	1.000000	0.71417	0.504000	0.27639	0.976000	0.68499	6.043000	0.71004	2.633000	0.89246	0.655000	0.94253	GAA	ADARB1	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd		0.577	ADARB1-004	KNOWN	basic|CCDS	protein_coding	ADARB1	HGNC	protein_coding	OTTHUMT00000206648.2	G	NM_015833		46596439	1	no_errors	ENST00000360697	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46596439	G	C	46596439	3	2	160	1	0	0	0	0	1	0	0	0	282	1291	45	1	829	1	ADARB1	21	46596439	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	311085	46596439	1533456	2136	30409										
COL6A1	1291	genome.wustl.edu	37	chr21	47410899	47410899	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cctcttttctccagggcattCaaggaccccctggccccaag	8	17	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47410899C>G	ENST00000361866.3	+	15	1177	c.1063C>G	c.(1063-1065)Caa>Gaa	p.Q355E		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	355	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGCATTCAAGGACCCCC	0.637																																																	0													46	53	51					21																	47410899		2203	4300	6503	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1063C>G	21.37:g.47410899C>G	ENSP00000355180:p.Gln355Glu		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q355E	ENST00000361866.3	37	c.1063	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752137	0.15778	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93247	-3.19	4.82	3.89	0.44902	.	0.145076	0.46758	D	0.000266	D	0.89378	0.6698	L	0.39692	1.235	0.46260	D	0.998956	B	0.30326	0.276	B	0.36186	0.219	D	0.85154	0.0988	10	0.09590	T	0.72	-5.9735	14.1048	0.65080	0.0:0.849:0.151:0.0	.	355	P12109	CO6A1_HUMAN	E	355	ENSP00000355180:Q355E	ENSP00000355180:Q355E	Q	+	1	0	COL6A1	46235327	0.971000	0.33674	0.988000	0.46212	0.792000	0.44763	2.571000	0.45990	2.222000	0.72286	0.478000	0.44815	CAA	COL6A1	-	NULL		0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	C	NM_001848		47410899	1	no_errors	ENST00000361866	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47410899	C	G	47410899	3	3	160	1	0	0	0	0	1	0	0	0	3704	827	29	1	1121	1	COL6A1	21	47410899	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	814460	47410899	718996	2137	30410										
COL6A1	1291	genome.wustl.edu	37	chr21	47423314	47423314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgccccgcagtcacgttctCctccccggctgacatcacca	7	21	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47423314C>G	ENST00000361866.3	+	35	2588	c.2474C>G	c.(2473-2475)tCc>tGc	p.S825C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	825	C-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GTCACGTTCTCCTCCCCGGCT	0.682																																																	0													24	28	27					21																	47423314		2172	4214	6386	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2474C>G	21.37:g.47423314C>G	ENSP00000355180:p.Ser825Cys		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S825C	ENST00000361866.3	37	c.2474	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141520	0.37825	.	.	ENSG00000142156	ENST00000361866	T	0.79141	-1.24	4.84	4.84	0.62591	.	0.368418	0.26820	N	0.022325	T	0.67979	0.2951	N	0.14661	0.345	0.28044	N	0.933616	D	0.63880	0.993	P	0.49999	0.628	T	0.64901	-0.6298	10	0.56958	D	0.05	-3.3661	9.7292	0.40350	0.1573:0.6905:0.1521:0.0	.	825	P12109	CO6A1_HUMAN	C	825	ENSP00000355180:S825C	ENSP00000355180:S825C	S	+	2	0	COL6A1	46247742	0.001000	0.12720	0.998000	0.56505	0.474000	0.32979	1.395000	0.34520	2.234000	0.73211	0.530000	0.56133	TCC	COL6A1	-	NULL		0.682	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	C	NM_001848		47423314	1	no_errors	ENST00000361866	ensembl	human	known	70_37	missense	SNP	0.743	G	G	47423314	C	G	47423314	3	3	160	1	0	0	0	0	1	0	0	0	3704	855	30	1	2612	1	COL6A1	21	47423314	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	12415	47423314	706581	2138	30411										
COL6A2	1292	genome.wustl.edu	37	chr21	47545434	47545434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcgtcatcgacagctccgaGagcattgggtacaccaactt	9	12	1	1	rs147566231		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47545434G>A	ENST00000300527.4	+	25	1976	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	COL6A2_ENST00000310645.5_Silent_p.E624E|COL6A2_ENST00000357838.4_Silent_p.E624E|COL6A2_ENST00000397763.1_Silent_p.E624E|COL6A2_ENST00000409416.1_Silent_p.E624E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	624	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACAGCTCCGAGAGCATTGGGT	0.607																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	87	69	75		1872,1872,1872	4.1	1	21	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	624/1020,624/919,624/829	47545434	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1872G>A	21.37:g.47545434G>A			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E624	ENST00000300527.4	37	c.1872	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	G			47545434	1	no_errors	ENST00000300527	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47545434	G	A	47545434	2	1	160	1	0	0	0	0	0	0	0	1	3705	933	33	1		1	COL6A2	21	47545434	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	122120	47545434	584461	2139	30412										
PCNT	5116	genome.wustl.edu	37	chr21	47817292	47817292	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agattttggagtctgagttaGaagaacagctgtctcagcat	11	6	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr21:47817292G>C	ENST00000359568.5	+	22	4437	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1444					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGAGTTAGAAGAACAGCT	0.567																																																	0													73	72	73					21																	47817292		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4330G>C	21.37:g.47817292G>C	ENSP00000352572:p.Glu1444Gln		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E1444Q	ENST00000359568.5	37	c.4330	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125536	0.56721	.	.	ENSG00000160299	ENST00000359568	T	0.60299	0.2	5.46	5.46	0.80206	.	0.245397	0.21236	N	0.077900	T	0.78304	0.4262	M	0.83953	2.67	0.35545	D	0.803385	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	D	0.83760	0.0214	10	0.49607	T	0.09	.	16.8006	0.85613	0.0:0.0:1.0:0.0	.	1326;1444	O95613-2;O95613	.;PCNT_HUMAN	Q	1444	ENSP00000352572:E1444Q	ENSP00000352572:E1444Q	E	+	1	0	PCNT	46641720	1.000000	0.71417	0.535000	0.28026	0.008000	0.06430	7.658000	0.83755	2.560000	0.86352	0.561000	0.74099	GAA	PCNT	-	NULL		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47817292	1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	0.997	C	C	47817292	G	C	47817292	3	2	160	1	0	0	0	0	1	0	0	0	11614	943	33	1	4416	1	PCNT	21	47817292	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	271858	47817292	312603	2140	30413										
GAB4	128954	genome.wustl.edu	37	chr22	17469015	17469015	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgggctcagctggagaaGagcagaggccgtgactggct	17	9	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17469015G>C	ENST00000400588.1	-	3	628	c.521C>G	c.(520-522)tCt>tGt	p.S174C	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCTGGAGAAGAGCAGAGGCC	0.592																																																	0													46	59	55					22																	17469015		2130	4264	6394	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.521C>G	22.37:g.17469015G>C	ENSP00000383431:p.Ser174Cys			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S174C	ENST00000400588.1	37	c.521	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244589	0.22796	.	.	ENSG00000215568	ENST00000400588	T	0.37584	1.19	1.84	1.84	0.25277	.	0.199186	0.43416	D	0.000567	T	0.44891	0.1315	L	0.43923	1.385	0.38935	D	0.958034	D	0.67145	0.996	D	0.74674	0.984	T	0.45011	-0.9290	10	0.62326	D	0.03	.	7.1508	0.25610	0.0:0.0:1.0:0.0	.	174	Q2WGN9	GAB4_HUMAN	C	174	ENSP00000383431:S174C	ENSP00000383431:S174C	S	-	2	0	GAB4	15849015	1.000000	0.71417	0.925000	0.36789	0.018000	0.09664	4.934000	0.63491	1.322000	0.45245	0.205000	0.17691	TCT	GAB4	-	NULL		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	G	XM_372882		17469015	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	missense	SNP	0.998	C	C	17469015	G	C	17469015	3	2	160	1	0	0	0	0	1	0	0	0	6169	942	33	1	1235	1	GAB4	22	17469015	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		17469015	33835551	2141	30414										
CECR1	51816	genome.wustl.edu	37	chr22	17687984	17687984	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcatcaaactcagtgacgttCtgcacccgcttccgataatc	6	14	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17687984C>G	ENST00000399839.1	-	3	789	c.519G>C	c.(517-519)caG>caC	p.Q173H	CECR1_ENST00000449907.2_Missense_Mutation_p.Q131H|CECR1_ENST00000262607.3_Missense_Mutation_p.Q173H|CECR1_ENST00000399837.2_Missense_Mutation_p.Q173H	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	173	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAGTGACGTTCTGCACCCGCT	0.512																																																	0													113	94	101					22																	17687984		2203	4300	6503	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.519G>C	22.37:g.17687984C>G	ENSP00000382733:p.Gln173His		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.Q173H	ENST00000399839.1	37	c.519	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327716	0.24080	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.34	-0.602	0.11634	.	0.703228	0.13353	N	0.394261	T	0.67154	0.2863	L	0.44542	1.39	0.09310	N	1	P	0.37594	0.601	B	0.30401	0.115	T	0.58973	-0.7541	10	0.48119	T	0.1	.	0.4195	0.00453	0.244:0.2826:0.2396:0.2338	.	173	Q9NZK5	CECR1_HUMAN	H	173;173;131;173	ENSP00000382733:Q173H;ENSP00000262607:Q173H;ENSP00000406443:Q131H;ENSP00000382731:Q173H	ENSP00000262607:Q173H	Q	-	3	2	CECR1	16067984	0.000000	0.05858	0.004000	0.12327	0.255000	0.26057	-0.083000	0.11286	-0.032000	0.13758	0.555000	0.69702	CAG	CECR1	-	tigrfam_Ad_deam-like		0.512	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	C			17687984	-1	no_errors	ENST00000262607	ensembl	human	known	70_37	missense	SNP	0.001	G	G	17687984	C	G	17687984	3	3	160	1	0	0	0	0	1	0	0	0	3210	912	32	1	1082	1	CECR1	22	17687984	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	218969	17687984	33616582	2142	30415										
CECR1	51816	genome.wustl.edu	37	chr22	17688135	17688135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtgacattcctcaccagcCagtccatagtcacgatgcca	8	14	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:17688135C>T	ENST00000399839.1	-	3	638	c.368G>A	c.(367-369)tGg>tAg	p.W123*	CECR1_ENST00000449907.2_Nonsense_Mutation_p.W81*|CECR1_ENST00000262607.3_Nonsense_Mutation_p.W123*|CECR1_ENST00000399837.2_Nonsense_Mutation_p.W123*	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	123					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCTCACCAGCCAGTCCATAGT	0.547																																																	0													108	103	105					22																	17688135		2203	4300	6503	SO:0001587	stop_gained	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.368G>A	22.37:g.17688135C>T	ENSP00000382733:p.Trp123*		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Nonsense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.W123*	ENST00000399839.1	37	c.368	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.172949	0.97348	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038;ENST00000441548	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.433	0.83860	0.0:1.0:0.0:0.0	.	.	.	.	X	123;123;81;123;123;123	.	ENSP00000262607:W123X	W	-	2	0	CECR1	16068135	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.368000	0.73104	1.940000	0.56252	0.555000	0.69702	TGG	CECR1	-	tigrfam_Ad_deam-like		0.547	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	C			17688135	-1	no_errors	ENST00000262607	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	17688135	C	T	17688135	4	4	160	1	0	0	0	0	0	1	0	0	3210	595	21	4	1233	4	CECR1	22	17688135	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	151	17688135	33616431	2143	30416										
MICAL3	57553	genome.wustl.edu	37	chr22	18378151	18378151	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacattctcaggggtggtctGaggcagcaacctgtaaatac	11	10	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:18378151G>A	ENST00000441493.2	-	10	1700	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	MICAL3_ENST00000207726.7_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000383094.3_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000429452.1_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000400561.2_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000444520.1_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000585038.1_Nonsense_Mutation_p.Q450*|MICAL3_ENST00000414725.2_Nonsense_Mutation_p.Q450*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	450	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGGTGGTCTGAGGCAGCAAC	0.473																																																	0													160	130	139					22																	18378151		1568	3582	5150	SO:0001587	stop_gained	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1348C>T	22.37:g.18378151G>A	ENSP00000416015:p.Gln450*		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.Q450*	ENST00000441493.2	37	c.1348	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	G	44	11.106270	0.99516	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	X	450	.	ENSP00000207726:Q450X	Q	-	1	0	XXbac-B461K10.4;MICAL3	16758151	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.826000	0.99387	2.778000	0.95560	0.655000	0.94253	CAG	MICAL3	-	superfamily_CH-domain		0.473	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	G			18378151	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18378151	G	A	18378151	4	1	160	1	0	0	0	0	0	1	0	0	9594	1299	45	1	5489	1	MICAL3	22	18378151	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	690016	18378151	32926415	2144	30417										
MICAL3	57553	genome.wustl.edu	37	chr22	18379666	18379666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgctgctgggtagagaagtCtgccgcctccctggcatagc	13	13	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:18379666C>G	ENST00000441493.2	-	8	1382	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	MICAL3_ENST00000207726.7_Missense_Mutation_p.D344H|MICAL3_ENST00000383094.3_Missense_Mutation_p.D344H|MICAL3_ENST00000429452.1_Missense_Mutation_p.D344H|MICAL3_ENST00000400561.2_Missense_Mutation_p.D344H|MICAL3_ENST00000444520.1_Missense_Mutation_p.D344H|MICAL3_ENST00000585038.1_Missense_Mutation_p.D344H|MICAL3_ENST00000414725.2_Missense_Mutation_p.D344H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	344	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTAGAGAAGTCTGCCGCCTCC	0.557											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58	57	57					22																	18379666		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1030G>C	22.37:g.18379666C>G	ENSP00000416015:p.Asp344His	725	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D344H	ENST00000441493.2	37	c.1030	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462804	0.84425	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.85	5.85	0.93711	.	0.103697	0.64402	D	0.000001	T	0.34629	0.0904	M	0.83012	2.62	0.51233	D	0.999913	D;P;D;D	0.89917	0.994;0.506;0.998;1.0	P;B;D;D	0.68765	0.785;0.378;0.96;0.946	T	0.04440	-1.0951	10	0.62326	D	0.03	.	13.3747	0.60732	0.0:0.9283:0.0:0.0717	.	344;344;344;344	B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;MICA3_HUMAN	H	344	ENSP00000416015:D344H;ENSP00000414846:D344H;ENSP00000383406:D344H;ENSP00000410315:D344H;ENSP00000391827:D344H;ENSP00000372574:D344H;ENSP00000207726:D344H	ENSP00000207726:D344H	D	-	1	0	XXbac-B461K10.4;MICAL3	16759666	0.999000	0.42202	0.966000	0.40874	0.969000	0.65631	4.084000	0.57650	2.773000	0.95371	0.585000	0.79938	GAC	MICAL3	-	NULL		0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	C			18379666	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18379666	C	G	18379666	3	3	160	1	0	0	0	0	1	0	0	0	9594	913	32	1	5815	1	MICAL3	22	18379666	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1515	18379666	32924900	2145	30418										
CLTCL1	8218	genome.wustl.edu	37	chr22	19241716	19241716	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgagccttcattttactcttCatctcaatattaaagatctg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19241716C>T	ENST00000263200.10	-	3	357	c.285G>A	c.(283-285)atG>atA	p.M95I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.M95I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.M95I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	95	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTTTACTCTTCATCTCAATAT	0.368			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													68	65	66					22																	19241716		1851	4109	5960	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.285G>A	22.37:g.19241716C>T	ENSP00000445677:p.Met95Ile		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.M95I	ENST00000263200.10	37	c.285	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909646	0.52439	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.9	2.88	0.33553	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.059391	0.64402	U	0.000005	T	0.49150	0.1540	M	0.83692	2.655	0.58432	D	0.999991	B;B	0.17038	0.02;0.014	B;B	0.30855	0.121;0.084	T	0.54077	-0.8347	10	0.66056	D	0.02	-3.567	11.3969	0.49847	0.0:0.9104:0.0:0.0896	.	95;95	P53675-2;P53675	.;CLH2_HUMAN	I	95;95;95;116	ENSP00000439662:M95I;ENSP00000445677:M95I;ENSP00000441158:M95I;ENSP00000443264:M116I	ENSP00000445677:M95I	M	-	3	0	CLTCL1	17621716	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	4.183000	0.58317	0.835000	0.34877	0.563000	0.77884	ATG	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.368	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19241716	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19241716	C	T	19241716	3	4	160	1	0	0	0	0	1	0	0	0	3572	826	29	1	4757	1	CLTCL1	22	19241716	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	862050	19241716	32062850	2146	30419	193	2								
CLTCL1	8218	genome.wustl.edu	37	chr22	19241721	19241721	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cttcattttactcttcatctCaatattaaagatctgaagtg							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19241721C>T	ENST00000263200.10	-	3	352	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E94K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E94K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	94	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCTTCATCTCAATATTAAAG	0.358			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													65	62	63					22																	19241721		1843	4105	5948	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.280G>A	22.37:g.19241721C>T	ENSP00000445677:p.Glu94Lys		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E94K	ENST00000263200.10	37	c.280	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895983	0.91962	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	3.9	3.9	0.45041	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.077823	0.50627	U	0.000116	T	0.76162	0.3949	M	0.94063	3.49	0.80722	D	1	D;D	0.62365	0.986;0.991	D;D	0.83275	0.957;0.996	D	0.84208	0.0454	10	0.72032	D	0.01	-8.6801	16.0556	0.80801	0.0:1.0:0.0:0.0	.	94;94	P53675-2;P53675	.;CLH2_HUMAN	K	94;94;94;115	ENSP00000439662:E94K;ENSP00000445677:E94K;ENSP00000441158:E94K;ENSP00000443264:E115K	ENSP00000445677:E94K	E	-	1	0	CLTCL1	17621721	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.930000	0.75858	1.983000	0.57843	0.563000	0.77884	GAG	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.358	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19241721	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19241721	C	T	19241721	3	4	160	1	0	0	0	0	1	0	0	0	3572	835	29	1	4762	1	CLTCL1	22	19241721	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5	19241721	32062845	2147	30420	193	2								
UFD1L	7353	genome.wustl.edu	37	chr22	19442308	19442308	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acaaggggacgtgaatttctGatgaaagttatcttaccaag	10	6	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19442308G>A	ENST00000263202.10	-	11	942	c.813C>T	c.(811-813)atC>atT	p.I271I	UFD1L_ENST00000399523.1_Intron|UFD1L_ENST00000360834.4_Silent_p.I260I|AC000068.9_ENST00000607934.1_RNA|AC000068.10_ENST00000608816.1_RNA	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	271					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					GTGAATTTCTGATGAAAGTTA	0.353																																																	0													106	100	102					22																	19442308		2203	4300	6503	SO:0001819	synonymous_variant	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.813C>T	22.37:g.19442308G>A			A8MW31|Q9Y5N0	Silent	SNP	pfam_UFD1	p.I271	ENST00000263202.10	37	c.813	CCDS13761.1	22																																																																																			UFD1L	-	NULL		0.353	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	G			19442308	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19442308	G	A	19442308	2	1	160	1	0	0	0	0	0	0	0	1	16966	1280	45	1		1	UFD1L	22	19442308	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	200587	19442308	31862258	2148	30421										
TXNRD2	10587	genome.wustl.edu	37	chr22	19903312	19903312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcccacctttggcaacgccGcaaaccgtgtgctcgtcaac	8	16	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:19903312G>A	ENST00000400521.1	-	6	510	c.504C>T	c.(502-504)tgC>tgT	p.C168C	TXNRD2_ENST00000400519.1_Silent_p.C167C|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000535882.1_Silent_p.C167C	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	168					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGCAACGCCGCAAACCGTGT	0.463																																																	0													91	96	94					22																	19903312		1991	4157	6148	SO:0001819	synonymous_variant	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.504C>T	22.37:g.19903312G>A			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.C167	ENST00000400521.1	37	c.501	CCDS42981.1	22																																																																																			TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.463	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	G	NM_006440		19903312	-1	no_errors	ENST00000535882	ensembl	human	known	70_37	silent	SNP	0.000	A	A	19903312	G	A	19903312	2	1	160	1	0	0	0	0	0	0	0	1	16839	1079	38	2		2	TXNRD2	22	19903312	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	461004	19903312	31401254	2149	30422										
RIMBP3	85376	genome.wustl.edu	37	chr22	20457822	20457822	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atggttctcactgagaccttCtgccacgtgaggggcacctg	12	12	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:20457822C>T	ENST00000426804.1	-	1	3964	c.3480G>A	c.(3478-3480)caG>caA	p.Q1160Q	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1160	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGAGACCTTCTGCCACGTGA	0.557																																																	0													32	40	37					22																	20457822		2012	4170	6182	SO:0001819	synonymous_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3480G>A	22.37:g.20457822C>T			Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.Q1160	ENST00000426804.1	37	c.3480	CCDS46665.1	22																																																																																			RIMBP3	-	superfamily_Fibronectin_type3		0.557	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	C	NM_015672		20457822	-1	no_errors	ENST00000426804	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20457822	C	T	20457822	2	4	160	1	0	0	0	0	0	0	0	1	13394	912	32	1		1	RIMBP3	22	20457822	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	554510	20457822	30846744	2150	30423										
SCARF2	91179	genome.wustl.edu	37	chr22	20786051	20786051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggtgtcgcagttggcaccGaagtagccgtggcggcagcg	17	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:20786051G>C	ENST00000266214.5	-	3	419	c.315C>G	c.(313-315)ttC>ttG	p.F105L	SCARF2_ENST00000405555.3_Missense_Mutation_p.F105L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	105	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGTTGGCACCGAAGTAGCCGT	0.682																																																	0													26	20	22					22																	20786051		2192	4281	6473	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.315C>G	22.37:g.20786051G>C	ENSP00000266214:p.Phe105Leu		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.F105L	ENST00000266214.5	37	c.315	CCDS13779.1	22	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917117	0.73098	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.24723	1.84;1.84	3.98	2.92	0.33932	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.48877	1.53	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61800	0.894;0.894	T	0.03493	-1.1031	10	0.35671	T	0.21	-20.5242	6.992	0.24761	0.2208:0.0:0.7792:0.0	.	105;105	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	105	ENSP00000385589:F105L;ENSP00000266214:F105L	ENSP00000266214:F105L	F	-	3	2	SCARF2	19116051	0.526000	0.26298	1.000000	0.80357	0.998000	0.95712	-0.152000	0.10159	0.775000	0.33450	0.591000	0.81541	TTC	SCARF2	-	smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom		0.682	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	G			20786051	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20786051	G	C	20786051	3	2	160	1	0	0	0	0	1	0	0	0	13914	1049	37	1	2333	1	SCARF2	22	20786051	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	328229	20786051	30518515	2151	30424										
AIFM3	150209	genome.wustl.edu	37	chr22	21327625	21327625	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agatcgaggtggtgctgcctGagaaggagcgaggcaaggag	19	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21327625G>T	ENST00000399167.2	+	3	301	c.61G>T	c.(61-63)Gag>Tag	p.E21*	AIFM3_ENST00000440238.2_Nonsense_Mutation_p.E21*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.E21*|AIFM3_ENST00000335375.5_Silent_p.L45L|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.E21*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.E27*	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	21					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGTGCTGCCTGAGAAGGAGCG	0.672																																																	0													22	22	22					22																	21327625		2195	4296	6491	SO:0001587	stop_gained	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.61G>T	22.37:g.21327625G>T	ENSP00000382120:p.Glu21*		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.E21*	ENST00000399167.2	37	c.61	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707465	0.68615	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000441376;ENST00000434714;ENST00000405089;ENST00000440238;ENST00000333607	.	.	.	5.18	2.92	0.33932	.	0.128138	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.9169	0.52771	0.0:0.0:0.6856:0.3144	.	.	.	.	X	21;21;21;21;27;21;21	.	ENSP00000327671:E21X	E	+	1	0	AIFM3	19657625	1.000000	0.71417	0.830000	0.32933	0.023000	0.10783	6.244000	0.72391	1.111000	0.41721	0.655000	0.94253	GAG	AIFM3	-	NULL		0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	G	NM_144704		21327625	1	no_errors	ENST00000399167	ensembl	human	known	70_37	nonsense	SNP	0.972	T	T	21327625	G	T	21327625	4	4	160	1	0	0	0	0	0	1	0	0	428	1291	45	3	85	3	AIFM3	22	21327625	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	541574	21327625	29976941	2152	30425										
AIFM3	150209	genome.wustl.edu	37	chr22	21327739	21327739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggagcgcctgtccacccctCacccctaccccagccctcag	7	22	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21327739C>T	ENST00000399167.2	+	3	415	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	AIFM3_ENST00000440238.2_Missense_Mutation_p.H59Y|AIFM3_ENST00000399163.2_Missense_Mutation_p.H59Y|AIFM3_ENST00000335375.5_Silent_p.L83L|AIFM3_ENST00000333607.6_Missense_Mutation_p.H59Y|AIFM3_ENST00000405089.1_Missense_Mutation_p.H65Y	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	59					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCCACCCCTCACCCCTACCC	0.682																																																	0													28	28	28					22																	21327739		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.175C>T	22.37:g.21327739C>T	ENSP00000382120:p.His59Tyr		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.H59Y	ENST00000399167.2	37	c.175	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924284	0.34002	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000441376;ENST00000434714;ENST00000405089;ENST00000440238;ENST00000333607	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.17	4.13	0.48395	.	0.420202	0.20381	N	0.093451	T	0.23688	0.0573	N	0.08118	0	0.09310	N	1	B;B;B	0.31989	0.35;0.35;0.238	B;B;B	0.19148	0.024;0.024;0.01	T	0.13045	-1.0524	10	0.59425	D	0.04	.	8.7002	0.34320	0.172:0.6618:0.1662:0.0	.	65;59;59	Q96NN9-2;Q96NN9-3;Q96NN9	.;.;AIFM3_HUMAN	Y	59;59;59;59;65;59;59	ENSP00000382120:H59Y;ENSP00000382116:H59Y;ENSP00000385800:H65Y;ENSP00000390798:H59Y;ENSP00000327671:H59Y	ENSP00000327671:H59Y	H	+	1	0	AIFM3	19657739	0.957000	0.32711	0.708000	0.30435	0.912000	0.54170	2.374000	0.44274	1.134000	0.42165	0.650000	0.86243	CAC	AIFM3	-	NULL		0.682	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	C	NM_144704		21327739	1	no_errors	ENST00000399167	ensembl	human	known	70_37	missense	SNP	0.225	T	T	21327739	C	T	21327739	3	4	160	1	0	0	0	0	1	0	0	0	428	826	29	1	199	1	AIFM3	22	21327739	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	114	21327739	29976827	2153	30426										
LZTR1	8216	genome.wustl.edu	37	chr22	21336750	21336750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtagccccgagcgtggacttCgaccatagctgctcggacag	13	13	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21336750C>G	ENST00000215739.8	+	1	449	c.90C>G	c.(88-90)ttC>ttG	p.F30L	XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000479606.1_Intron|LZTR1_ENST00000389355.3_Missense_Mutation_p.F30L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	30					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCGTGGACTTCGACCATAGCT	0.701																																																	0													25	22	23					22																	21336750		2201	4300	6501	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.90C>G	22.37:g.21336750C>G	ENSP00000215739:p.Phe30Leu		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.F30L	ENST00000215739.8	37	c.90	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683813	0.88639	.	.	ENSG00000099949	ENST00000215739;ENST00000389355	T;T	0.55588	0.83;0.51	5.55	3.21	0.36854	.	0.050603	0.85682	D	0.000000	T	0.51466	0.1676	L	0.29908	0.895	0.54753	D	0.999987	D;D	0.54964	0.969;0.969	D;D	0.64877	0.93;0.93	T	0.42666	-0.9438	10	0.15066	T	0.55	-8.3059	7.9415	0.29961	0.0:0.1986:0.0:0.8014	.	30;30	B7Z3T9;Q8N653	.;LZTR1_HUMAN	L	30	ENSP00000215739:F30L;ENSP00000374006:F30L	ENSP00000215739:F30L	F	+	3	2	LZTR1	19666750	0.997000	0.39634	1.000000	0.80357	0.957000	0.61999	0.300000	0.19156	1.027000	0.39758	-0.345000	0.07892	TTC	LZTR1	-	NULL		0.701	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	C	NM_006767		21336750	1	no_errors	ENST00000215739	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21336750	C	G	21336750	3	3	160	1	0	0	0	0	1	0	0	0	9160	883	31	1	92	1	LZTR1	22	21336750	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	9011	21336750	29967816	2154	30427										
HIC2	23119	genome.wustl.edu	37	chr22	21799586	21799586	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgcccgagttggcagccctCtgccgccgcaaactcaagcg	11	17	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:21799586C>A	ENST00000443632.2	+	2	774	c.402C>A	c.(400-402)ctC>ctA	p.L134L	HIC2_ENST00000407464.2_Silent_p.L134L|HIC2_ENST00000407598.2_Silent_p.L134L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	134					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGGCAGCCCTCTGCCGCCGCA	0.706																																					NSCLC(23;437 858 2282 27947 40366)												0													16	20	19					22																	21799586		2203	4295	6498	SO:0001819	synonymous_variant	23119			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.402C>A	22.37:g.21799586C>A			Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L134	ENST00000443632.2	37	c.402	CCDS13789.1	22																																																																																			HIC2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.706	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2	C			21799586	1	no_errors	ENST00000407464	ensembl	human	known	70_37	silent	SNP	0.993	A	A	21799586	C	A	21799586	2	1	160	1	0	0	0	0	0	0	0	1	7122	900	32	3		3	HIC2	22	21799586	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	462836	21799586	29504980	2155	30428										
PPIL2	23759	genome.wustl.edu	37	chr22	22035640	22035640	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcaccaacaacacccacatCgtggctgtgaggacgaccgg	10	14	1	1	rs369102532		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:22035640C>G	ENST00000335025.8	+	7	439	c.348C>G	c.(346-348)atC>atG	p.I116M	PPIL2_ENST00000456792.2_Missense_Mutation_p.I95M|PPIL2_ENST00000398831.3_Missense_Mutation_p.I116M|PPIL2_ENST00000492445.2_Missense_Mutation_p.I116M|PPIL2_ENST00000406385.1_Missense_Mutation_p.I116M|PPIL2_ENST00000412327.1_Missense_Mutation_p.I116M					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACACCCACATCGTGGCTGTGA	0.597																																																	0													163	118	133					22																	22035640		2203	4300	6503	SO:0001583	missense	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.348C>G	22.37:g.22035640C>G	ENSP00000334553:p.Ile116Met			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.I116M	ENST00000335025.8	37	c.348	CCDS13793.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051950	0.75960	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.24	-3.87	0.04218	.	0.049942	0.85682	D	0.000000	T	0.59838	0.2223	H	0.94620	3.56	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.989;0.995	T	0.70821	-0.4768	10	0.87932	D	0	.	13.2175	0.59869	0.0:0.2988:0.0:0.7012	.	95;116;116	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	M	116;116;116;116;147;116;95	ENSP00000390427:I116M;ENSP00000334553:I116M;ENSP00000381812:I116M;ENSP00000445312:I116M;ENSP00000384299:I116M;ENSP00000396228:I95M	ENSP00000334553:I116M	I	+	3	3	PPIL2	20365640	0.000000	0.05858	0.985000	0.45067	0.937000	0.57800	-2.298000	0.01140	-0.507000	0.06549	-0.291000	0.09656	ATC	PPIL2	-	NULL		0.597	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL2	HGNC	protein_coding	OTTHUMT00000075028.4	C			22035640	1	no_errors	ENST00000412327	ensembl	human	known	70_37	missense	SNP	0.962	G	G	22035640	C	G	22035640	3	3	160	1	0	0	0	0	1	0	0	0	12354	874	31	1	374	1	PPIL2	22	22035640	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	236054	22035640	29268926	2156	30429										
GGTLC2	91227	genome.wustl.edu	37	chr22	22988825	22988825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggtccacaacatgacctctGagttcttcgctgcccagctc	8	15	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:22988825G>A	ENST00000480559.1	+	1	10	c.10G>A	c.(10-12)Gag>Aag	p.E4K	GGTLC2_ENST00000448514.1_Missense_Mutation_p.E4K|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	4					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CATGACCTCTGAGTTCTTCGC	0.637																																																	0													20	20	20					22																	22988825		2156	4125	6281	SO:0001583	missense	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.10G>A	22.37:g.22988825G>A	ENSP00000419751:p.Glu4Lys		A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E4K	ENST00000480559.1	37	c.10	CCDS13802.2	22	.	.	.	.	.	.	.	.	.	.	g	9.468	1.094924	0.20471	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.05447	3.44;3.44	.	.	.	.	0.233067	0.35739	U	0.003014	T	0.02494	0.0076	N	0.05554	-0.025	0.29963	N	0.819205	B;B	0.20368	0.044;0.044	B;B	0.29353	0.101;0.048	T	0.46034	-0.9220	9	0.05620	T	0.96	-6.3883	5.8178	0.18506	0.001:0.0:0.999:0.0	.	4;4	Q14390;B7WND7	GGTL2_HUMAN;.	K	4	ENSP00000419751:E4K;ENSP00000415676:E4K	ENSP00000415676:E4K	E	+	1	0	GGTLC2	21318825	0.999000	0.42202	0.000000	0.03702	0.000000	0.00434	3.376000	0.52417	-0.000000	0.14550	0.000000	0.15137	GAG	GGTLC2	-	pfam_GGT_peptidase		0.637	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	GGTLC2	HGNC	protein_coding	OTTHUMT00000321662.1	G	NM_199127		22988825	1	no_errors	ENST00000448514	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22988825	G	A	22988825	3	1	160	1	0	0	0	0	1	0	0	0	6385	1291	45	1	12	1	GGTLC2	22	22988825	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	953185	22988825	28315741	2157	30430										
GGTLC2	91227	genome.wustl.edu	37	chr22	22988948	22988948	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcacctgtctgtcgtcgcaGaggacggcagtgctgtgtcc	13	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:22988948G>C	ENST00000480559.1	+	1	133	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	GGTLC2_ENST00000448514.1_Missense_Mutation_p.E45Q|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	45					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTCGTCGCAGAGGACGGCAG	0.652																																																	0													19	10	13					22																	22988948		2184	4108	6292	SO:0001583	missense	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.133G>C	22.37:g.22988948G>C	ENSP00000419751:p.Glu45Gln		A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E45Q	ENST00000480559.1	37	c.133	CCDS13802.2	22	.	.	.	.	.	.	.	.	.	.	g	10.04	1.242167	0.22796	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.08458	3.09;3.09	.	.	.	.	0.055721	0.64402	D	0.000001	T	0.07413	0.0187	L	0.52364	1.645	0.29172	N	0.877073	B;B	0.29232	0.238;0.205	B;B	0.32211	0.142;0.139	T	0.22382	-1.0218	9	0.28530	T	0.3	-41.8891	5.8178	0.18506	0.001:0.0:0.999:0.0	.	45;45	Q14390;B7WND7	GGTL2_HUMAN;.	Q	45	ENSP00000419751:E45Q;ENSP00000415676:E45Q	ENSP00000415676:E45Q	E	+	1	0	GGTLC2	21318948	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.115000	0.50391	-0.000000	0.14550	0.000000	0.15137	GAG	GGTLC2	-	pfam_GGT_peptidase,prints_GGT_peptidase		0.652	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	GGTLC2	HGNC	protein_coding	OTTHUMT00000321662.1	G	NM_199127		22988948	1	no_errors	ENST00000448514	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22988948	G	C	22988948	3	2	160	1	0	0	0	0	1	0	0	0	6385	943	33	1	135	1	GGTLC2	22	22988948	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	123	22988948	28315618	2158	30431										
DERL3	91319	genome.wustl.edu	37	chr22	24180756	24180756	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cagggcgcaggatacacgaaGagcatgttgaagaagaagct	14	7	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:24180756G>C	ENST00000318109.7	-	3	244	c.228C>G	c.(226-228)ctC>ctG	p.L76L	DERL3_ENST00000476077.1_Silent_p.L76L|DERL3_ENST00000404056.1_Missense_Mutation_p.L81V|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Silent_p.L76L			Q96Q80	DERL3_HUMAN	derlin 3	76					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GATACACGAAGAGCATGTTGA	0.682																																																	0													23	26	25					22																	24180756		2195	4291	6486	SO:0001819	synonymous_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.228C>G	22.37:g.24180756G>C			F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	pfam_DER1	p.L81V	ENST00000318109.7	37	c.241	CCDS33615.1	22	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108740	0.37242	.	.	ENSG00000099958	ENST00000404056	.	.	.	5.23	0.576	0.17380	.	0.150059	0.40144	N	0.001175	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20940	-1.0260	6	0.02654	T	1	-50.0935	4.5608	0.12160	0.2012:0.0:0.4037:0.3951	.	.	.	.	V	81	.	ENSP00000384473:L81V	L	-	1	0	DERL3	22510756	0.991000	0.36638	1.000000	0.80357	0.989000	0.77384	0.152000	0.16302	0.296000	0.22592	0.555000	0.69702	CTT	DERL3	-	NULL		0.682	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24180756	-1	no_errors	ENST00000404056	ensembl	human	novel	70_37	missense	SNP	0.995	C	C	24180756	G	C	24180756	2	2	160	1	0	0	0	0	0	0	0	1	4458	929	33	1		1	DERL3	22	24180756	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1191808	24180756	27123810	2159	30432										
PIWIL3	440822	genome.wustl.edu	37	chr22	25150144	25150144	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgctgttttcgtattgaaGaacagaagtaacataaccaa	7	6	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:25150144G>A	ENST00000332271.5	-	8	1230	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.L163F|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L163F	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	272					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCGTATTGAAGAACAGAAGTA	0.408																																																	0													94	90	91					22																	25150144		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.814C>T	22.37:g.25150144G>A	ENSP00000330031:p.Leu272Phe			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L272F	ENST00000332271.5	37	c.814	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856476	0.32791	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10192	2.9;2.9;2.9	2.42	1.38	0.22167	Argonaute/Dicer protein, PAZ (1);	0.080886	0.50627	N	0.000118	T	0.27933	0.0688	M	0.79123	2.44	0.47737	D	0.999508	D;P;D	0.89917	1.0;0.481;0.999	D;B;D	0.91635	0.999;0.119;0.985	T	0.01630	-1.1308	10	0.72032	D	0.01	-10.9471	7.3203	0.26523	0.1446:0.0:0.8554:0.0	.	163;272;272	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	F	272;163;163	ENSP00000330031:L272F;ENSP00000431843:L163F;ENSP00000435718:L163F	ENSP00000330031:L272F	L	-	1	0	PIWIL3	23480144	1.000000	0.71417	0.238000	0.24106	0.324000	0.28378	2.165000	0.42396	0.587000	0.29643	0.462000	0.41574	CTT	PIWIL3	-	superfamily_PAZ		0.408	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	G	NM_001008496		25150144	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.999	A	A	25150144	G	A	25150144	3	1	160	1	0	0	0	0	1	0	0	0	11983	942	33	1	1890	1	PIWIL3	22	25150144	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	969388	25150144	26154422	2160	30433										
SGSM1	129049	genome.wustl.edu	37	chr22	25264726	25264726	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aactgcgcaagcgaagccctCagggttctgccgagtccaca	11	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:25264726C>G	ENST00000400359.4	+	12	1202	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E	SGSM1_ENST00000400358.4_Missense_Mutation_p.Q399E	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	399						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCGAAGCCCTCAGGGTTCTGC	0.498																																																	0													118	114	115					22																	25264726		1954	4168	6122	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1195C>G	22.37:g.25264726C>G	ENSP00000383212:p.Gln399Glu		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.Q399E	ENST00000400359.4	37	c.1195	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.770530	0.00645	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.30182	1.54;1.54	4.97	3.94	0.45596	.	0.254880	0.41823	D	0.000802	T	0.23846	0.0577	L	0.43923	1.385	0.42605	D	0.99329	P;B;B;P	0.49783	0.545;0.06;0.179;0.928	B;B;B;B	0.43838	0.15;0.047;0.089;0.433	T	0.10382	-1.0632	10	0.02654	T	1	4.5708	12.0022	0.53237	0.1734:0.8266:0.0:0.0	.	399;515;532;399	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	E	515;399;399	ENSP00000383211:Q399E;ENSP00000383212:Q399E	ENSP00000383211:Q399E	Q	+	1	0	SGSM1	23594726	1.000000	0.71417	0.112000	0.21494	0.002000	0.02628	5.332000	0.65911	1.216000	0.43427	-0.293000	0.09583	CAG	SGSM1	-	NULL		0.498	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25264726	1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	0.997	G	G	25264726	C	G	25264726	3	3	160	1	0	0	0	0	1	0	0	0	14252	827	29	1	1241	1	SGSM1	22	25264726	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	114582	25264726	26039840	2161	30434										
SGSM1	129049	genome.wustl.edu	37	chr22	25280109	25280109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgtctccagacttgccctgcGatgctggacagggactgaca	12	12	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:25280109G>A	ENST00000400359.4	+	16	1757	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	SGSM1_ENST00000400358.4_Missense_Mutation_p.D529N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	584						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTGCCCTGCGATGCTGGACA	0.577																																																	0													68	69	69					22																	25280109		2054	4189	6243	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1750G>A	22.37:g.25280109G>A	ENSP00000383212:p.Asp584Asn		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.D584N	ENST00000400359.4	37	c.1750	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517395	0.64634	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08102	3.13;3.13	5.24	4.22	0.49857	.	0.087083	0.85682	D	0.000000	T	0.14570	0.0352	L	0.57536	1.79	0.80722	D	1	P;D;P;D	0.61697	0.519;0.99;0.845;0.971	B;P;B;B	0.51701	0.057;0.677;0.338;0.439	T	0.01228	-1.1412	10	0.46703	T	0.11	-12.4918	8.9388	0.35718	0.0863:0.1533:0.7604:0.0	.	529;645;662;584	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	N	645;529;584	ENSP00000383211:D529N;ENSP00000383212:D584N	ENSP00000383211:D529N	D	+	1	0	SGSM1	23610109	0.975000	0.34042	0.972000	0.41901	0.863000	0.49368	4.139000	0.58024	1.332000	0.45431	-0.195000	0.12781	GAT	SGSM1	-	NULL		0.577	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25280109	1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25280109	G	A	25280109	3	1	160	1	0	0	0	0	1	0	0	0	14252	1058	37	1	1812	1	SGSM1	22	25280109	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	15383	25280109	26024457	2162	30435										
MN1	4330	genome.wustl.edu	37	chr22	28193385	28193385	+	Silent	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcattggcgtagctcgtgctCacctcgtccgaggcgaactc							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28193385C>T	ENST00000302326.4	-	1	4101	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1049					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCTCGTGCTCACCTCGTCCG	0.637			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													57	64	62					22																	28193385		2136	4227	6363	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3147G>A	22.37:g.28193385C>T			A9Z1V9	Silent	SNP	NULL	p.V1049	ENST00000302326.4	37	c.3147	CCDS42998.1	22																																																																																			MN1	-	NULL		0.637	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	C	NM_002430		28193385	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28193385	C	T	28193385	2	4	160	1	0	0	0	0	0	0	0	1	9696	813	29	1		1	MN1	22	28193385	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2913276	28193385	23111181	2163	30436	194	2								
MN1	4330	genome.wustl.edu	37	chr22	28193390	28193390	+	Missense_Mutation	SNP	C	C	T													0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggcgtagctcgtgctcacctCgtccgaggcgaactcaccca							TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28193390C>T	ENST00000302326.4	-	1	4096	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1048					intramembranous ossification (GO:0001957)			p.E1048K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTGCTCACCTCGTCCGAGGCG	0.627			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - Missense(1)	skin(1)											58	65	63					22																	28193390		2131	4228	6359	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3142G>A	22.37:g.28193390C>T	ENSP00000304956:p.Glu1048Lys		A9Z1V9	Missense_Mutation	SNP	NULL	p.E1048K	ENST00000302326.4	37	c.3142	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460996	0.63513	.	.	ENSG00000169184	ENST00000302326	T	0.49720	0.77	4.2	4.2	0.49525	.	0.066402	0.56097	D	0.000025	T	0.27731	0.0682	N	0.08118	0	0.39996	D	0.975105	P	0.50710	0.938	B	0.39840	0.311	T	0.18461	-1.0336	10	0.34782	T	0.22	-19.8683	15.3075	0.74004	0.0:1.0:0.0:0.0	.	1048	Q10571	MN1_HUMAN	K	1048	ENSP00000304956:E1048K	ENSP00000304956:E1048K	E	-	1	0	MN1	26523390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.837000	0.75354	2.153000	0.67306	0.462000	0.41574	GAG	MN1	-	NULL		0.627	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	C	NM_002430		28193390	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28193390	C	T	28193390	3	4	160	1	0	0	0	0	1	0	0	0	9696	893	31	1	828	1	MN1	22	28193390	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5	28193390	23111176	2164	30437	194	2								
MN1	4330	genome.wustl.edu	37	chr22	28193687	28193687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agggctcacgtgaccactgtCcctttttctgcgaccccgtc	9	16	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28193687C>T	ENST00000302326.4	-	1	3799	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	949					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGACCACTGTCCCTTTTTCTG	0.682			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													10	13	12					22																	28193687		1969	4125	6094	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2845G>A	22.37:g.28193687C>T	ENSP00000304956:p.Asp949Asn		A9Z1V9	Missense_Mutation	SNP	NULL	p.D949N	ENST00000302326.4	37	c.2845	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648268	0.87958	.	.	ENSG00000169184	ENST00000302326	T	0.62364	0.03	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.29908	0.895	0.50313	D	0.999861	D	0.89917	1.0	D	0.87578	0.998	T	0.63501	-0.6623	10	0.23302	T	0.38	-23.1582	15.0915	0.72198	0.0:1.0:0.0:0.0	.	949	Q10571	MN1_HUMAN	N	949	ENSP00000304956:D949N	ENSP00000304956:D949N	D	-	1	0	MN1	26523687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.930000	0.63462	2.105000	0.64084	0.462000	0.41574	GAC	MN1	-	NULL		0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	C	NM_002430		28193687	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28193687	C	T	28193687	3	4	160	1	0	0	0	0	1	0	0	0	9696	855	30	1	1125	1	MN1	22	28193687	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	297	28193687	23110879	2165	30438										
MN1	4330	genome.wustl.edu	37	chr22	28195777	28195777	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aatgaggcagctgcccttcgGagtcagagggcgaaaacatg	14	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:28195777G>C	ENST00000302326.4	-	1	1709	c.755C>G	c.(754-756)tCc>tGc	p.S252C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	252					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTGCCCTTCGGAGTCAGAGGG	0.647			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													10	11	11					22																	28195777		2006	4176	6182	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.755C>G	22.37:g.28195777G>C	ENSP00000304956:p.Ser252Cys		A9Z1V9	Missense_Mutation	SNP	NULL	p.S252C	ENST00000302326.4	37	c.755	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635016	0.67130	.	.	ENSG00000169184	ENST00000302326	T	0.67171	-0.25	5.19	4.17	0.49024	.	0.913253	0.09459	N	0.799345	T	0.68504	0.3008	N	0.19112	0.55	0.42030	D	0.991027	D	0.67145	0.996	P	0.59288	0.855	T	0.66200	-0.5983	10	0.87932	D	0	-7.0086	13.339	0.60535	0.0763:0.0:0.9237:0.0	.	252	Q10571	MN1_HUMAN	C	252	ENSP00000304956:S252C	ENSP00000304956:S252C	S	-	2	0	MN1	26525777	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	5.370000	0.66144	1.323000	0.45263	0.561000	0.74099	TCC	MN1	-	NULL		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28195777	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28195777	G	C	28195777	3	2	160	1	0	0	0	0	1	0	0	0	9696	1174	41	1	3215	1	MN1	22	28195777	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2090	28195777	23108789	2166	30439										
EWSR1	2130	genome.wustl.edu	37	chr22	29695785	29695785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggggggccccctggacctttGatggaacagatgggaggaag	18	8	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:29695785G>C	ENST00000397938.2	+	16	2194	c.1875G>C	c.(1873-1875)ttG>ttC	p.L625F	EWSR1_ENST00000414183.2_Missense_Mutation_p.L630F|EWSR1_ENST00000406548.1_Missense_Mutation_p.L624F|EWSR1_ENST00000331029.7_Missense_Mutation_p.L587F|EWSR1_ENST00000332050.6_Missense_Mutation_p.L552F|EWSR1_ENST00000332035.6_Missense_Mutation_p.L569F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	625	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGACCTTTGATGGAACAGA	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0													27	30	29					22																	29695785		2203	4300	6503	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1875G>C	22.37:g.29695785G>C	ENSP00000381031:p.Leu625Phe		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.L630F	ENST00000397938.2	37	c.1890	CCDS13851.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.37|14.37	2.515078|2.515078	0.44763|0.44763	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|D;D;D;D;D;D	.|0.96554	.|-3.96;-3.45;-3.59;-4.05;-3.59;-3.43	5.18|5.18	0.122|0.122	0.14702|0.14702	.|.	.|0.000000	.|0.40302	.|U	.|0.001123	D|D	0.90844|0.90844	0.7124|0.7124	L|L	0.36672|0.36672	1.1|1.1	0.31842|0.31842	N|N	0.623361|0.623361	.|B;B;B;B;B	.|0.29862	.|0.259;0.259;0.259;0.259;0.259	.|B;B;B;B;B	.|0.29440	.|0.043;0.102;0.071;0.102;0.102	D|D	0.86112|0.86112	0.1563|0.1563	5|10	.|0.56958	.|D	.|0.05	.|.	4.3234|4.3234	0.11029|0.11029	0.2008:0.1723:0.5334:0.0935|0.2008:0.1723:0.5334:0.0935	.|.	.|569;624;569;630;625	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	H|F	277|552;625;624;587;630;569	.|ENSP00000330896:L552F;ENSP00000381031:L625F;ENSP00000385726:L624F;ENSP00000330516:L587F;ENSP00000400142:L630F;ENSP00000331699:L569F	.|ENSP00000330516:L587F	D|L	+|+	1|3	0|2	EWSR1|EWSR1	28025785|28025785	0.645000|0.645000	0.27286|0.27286	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	-0.373000|-0.373000	0.07494|0.07494	0.192000|0.192000	0.20272|0.20272	0.563000|0.563000	0.77884|0.77884	GAT|TTG	EWSR1	-	NULL		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	G	NM_005243		29695785	1	no_errors	ENST00000414183	ensembl	human	known	70_37	missense	SNP	0.964	C	C	29695785	G	C	29695785	3	2	160	1	0	0	0	0	1	0	0	0	5308	1281	45	1	2054	1	EWSR1	22	29695785	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1500008	29695785	21608781	2167	30440										
NEFH	4744	genome.wustl.edu	37	chr22	29879471	29879471	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctgcaggccaggaccacaGagctggaggcactgaaaagc	14	11	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:29879471G>C	ENST00000310624.6	+	2	1024	c.991G>C	c.(991-993)Gag>Cag	p.E331Q		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	331	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGGACCACAGAGCTGGAGGC	0.617																																																	0													112	94	100					22																	29879471		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.991G>C	22.37:g.29879471G>C	ENSP00000311997:p.Glu331Gln		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E331Q	ENST00000310624.6	37	c.991	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356385	0.61293	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.91894	-2.93	5.3	5.3	0.74995	Filament (1);	0.000000	0.49305	D	0.000144	D	0.94377	0.8192	L	0.60957	1.885	0.50813	D	0.999897	D	0.67145	0.996	D	0.64042	0.921	D	0.94504	0.7712	10	0.87932	D	0	.	14.7229	0.69320	0.0:0.1444:0.8556:0.0	.	331	P12036	NFH_HUMAN	Q	331	ENSP00000311997:E331Q	ENSP00000311997:E331Q	E	+	1	0	NEFH	28209471	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.681000	0.84073	2.761000	0.94854	0.650000	0.86243	GAG	NEFH	-	pfam_F		0.617	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29879471	1	no_errors	ENST00000310624	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29879471	G	C	29879471	3	2	160	1	0	0	0	0	1	0	0	0	10338	943	33	1	997	1	NEFH	22	29879471	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	183686	29879471	21425095	2168	30441										
GAL3ST1	9514	genome.wustl.edu	37	chr22	30953252	30953252	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccagctgggccactcacgtgGaggccaggccggcatgcagc	15	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:30953252G>C	ENST00000402321.1	-	2	445	c.128C>G	c.(127-129)tCc>tGc	p.S43C	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.S43C|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.S43C|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.S43C|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.S43C			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	43					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CACTCACGTGGAGGCCAGGCC	0.652																																																	0													51	54	53					22																	30953252		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.128C>G	22.37:g.30953252G>C	ENSP00000385735:p.Ser43Cys		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.S43C	ENST00000402321.1	37	c.128	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378763	0.61735	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.67	4.66	0.58398	.	0.446831	0.22235	N	0.062762	T	0.18841	0.0452	N	0.22421	0.69	0.80722	D	1	D	0.53885	0.963	P	0.50754	0.649	T	0.01904	-1.1250	10	0.40728	T	0.16	.	13.955	0.64142	0.0739:0.0:0.926:0.0	.	43	Q99999	G3ST1_HUMAN	C	43	ENSP00000385825:S43C;ENSP00000385735:S43C;ENSP00000384122:S43C;ENSP00000384388:S43C;ENSP00000343234:S43C;ENSP00000385207:S43C;ENSP00000402587:S43C;ENSP00000390545:S43C;ENSP00000395080:S43C;ENSP00000405017:S43C;ENSP00000401426:S43C;ENSP00000391485:S43C;ENSP00000397092:S43C;ENSP00000391996:S43C;ENSP00000405381:S43C;ENSP00000401074:S43C;ENSP00000389876:S43C;ENSP00000398380:S43C;ENSP00000414542:S43C;ENSP00000412995:S43C;ENSP00000394912:S43C;ENSP00000399649:S43C;ENSP00000390068:S43C	ENSP00000343234:S43C	S	-	2	0	GAL3ST1	29283252	0.998000	0.40836	0.955000	0.39395	0.747000	0.42532	2.269000	0.43346	1.389000	0.46526	0.591000	0.81541	TCC	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	G	NM_004861		30953252	-1	no_errors	ENST00000338911	ensembl	human	known	70_37	missense	SNP	0.992	C	C	30953252	G	C	30953252	3	2	160	1	0	0	0	0	1	0	0	0	6216	1174	41	1	1151	1	GAL3ST1	22	30953252	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1073781	30953252	20351314	2169	30442										
YWHAH	7533	genome.wustl.edu	37	chr22	32352575	32352575	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgggcctggccctcaacttCtccgtgttctactatgagat	9	13	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:32352575C>T	ENST00000248975.5	+	2	810	c.537C>T	c.(535-537)ttC>ttT	p.F179F	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	179					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CCCTCAACTTCTCCGTGTTCT	0.527																																					Ovarian(98;460 2060 9263 44007)												0													72	61	65					22																	32352575		2203	4300	6503	SO:0001819	synonymous_variant	7533			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.537C>T	22.37:g.32352575C>T				Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.F179	ENST00000248975.5	37	c.537	CCDS13901.1	22																																																																																			YWHAH	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.527	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAH	HGNC	protein_coding	OTTHUMT00000075721.2	C	NM_003405		32352575	1	no_errors	ENST00000248975	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32352575	C	T	32352575	2	4	160	1	0	0	0	0	0	0	0	1	17535	912	32	1		1	YWHAH	22	32352575	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1399323	32352575	18951991	2170	30443										
RFPL2	10739	genome.wustl.edu	37	chr22	32589259	32589259	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgacaagtgacaaccttttCatgcatagaggtattgtgtt	10	6	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:32589259C>G	ENST00000400237.1	-	4	1201				RFPL2_ENST00000248980.4_Start_Codon_SNP_p.M1I|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Intron			O75678	RFPL2_HUMAN	ret finger protein-like 2								zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ACAACCTTTTCATGCATAGAG	0.463																																																	0													47	54	51					22																	32589259		1314	2303	3617	SO:0001627	intron_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.266-80G>C	22.37:g.32589259C>G				Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.M1I	ENST00000400237.1	37	c.3	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217738	0.09810	.	.	ENSG00000128253	ENST00000248980	T	0.50277	0.75	0.628	0.628	0.17681	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.09310	N	1	B	0.33000	0.393	B	0.36030	0.216	T	0.23368	-1.0190	6	.	.	.	.	.	.	.	.	1	O75678-3	.	I	1	ENSP00000248980:M1I	.	M	-	3	0	RFPL2	30919259	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.752000	0.26362	0.602000	0.29896	0.455000	0.32223	ATG	RFPL2	-	NULL		0.463	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	C	NM_006605		32589259	-1	no_errors	ENST00000248980	ensembl	human	known	70_37	missense	SNP	0.002	G	G	32589259	C	G	32589259	1	3	160	0	1	0	0	0	0	0	0	0	13284	826	29	1		1	RFPL2	22	32589259	Intron	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	236684	32589259	18715307	2171	30444										
LARGE	9215	genome.wustl.edu	37	chr22	33670487	33670487	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggacatgtcctgctgaaactCttccttgagggttttgagac	11	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:33670487C>G	ENST00000354992.2	-	16	2768	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	LARGE_ENST00000402320.1_Missense_Mutation_p.E681Q|LARGE_ENST00000397394.2_Missense_Mutation_p.E733Q|LARGE_ENST00000452586.2_Missense_Mutation_p.E532Q|LARGE_ENST00000437602.2_Missense_Mutation_p.E684Q|LARGE_ENST00000337431.2_Missense_Mutation_p.E681Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	733					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGCTGAAACTCTTCCTTGAGG	0.532											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)												0													165	135	145					22																	33670487		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2197G>C	22.37:g.33670487C>G	ENSP00000347088:p.Glu733Gln	841	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E733Q	ENST00000354992.2	37	c.2197	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831101	0.91036	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.37850	1.14	0.80722	D	1	D;B;P;P	0.56521	0.976;0.138;0.929;0.935	P;B;P;P	0.57283	0.817;0.177;0.771;0.734	T	0.00188	-1.1940	10	0.35671	T	0.21	-13.9295	20.8598	0.99761	0.0:1.0:0.0:0.0	.	684;532;681;733	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Q	733;681;733;681;532;684	ENSP00000347088:E733Q;ENSP00000336636:E681Q;ENSP00000380549:E733Q;ENSP00000385223:E681Q;ENSP00000407917:E532Q;ENSP00000388544:E684Q	ENSP00000336636:E681Q	E	-	1	0	LARGE	32000487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.348000	0.79366	2.937000	0.99478	0.650000	0.86243	GAG	LARGE	-	NULL		0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		33670487	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33670487	C	G	33670487	3	3	160	1	0	0	0	0	1	0	0	0	8647	922	32	1	77	1	LARGE	22	33670487	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1081228	33670487	17634079	2172	30445										
LARGE	9215	genome.wustl.edu	37	chr22	34157361	34157361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggcttccattcttaccttCgaagctcccagaaaacaggt	7	12	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:34157361C>T	ENST00000354992.2	-	3	674	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	LARGE_ENST00000402320.1_Missense_Mutation_p.E35K|LARGE_ENST00000397394.2_Missense_Mutation_p.E35K|LARGE_ENST00000437602.2_Missense_Mutation_p.E35K|LARGE_ENST00000337431.2_Missense_Mutation_p.E35K	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	35					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTCTTACCTTCGAAGCTCCCA	0.483																																					Colon(70;397 1175 4573 19089 45288)												0													136	136	136					22																	34157361		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.103G>A	22.37:g.34157361C>T	ENSP00000347088:p.Glu35Lys		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E35K	ENST00000354992.2	37	c.103	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606313	0.66445	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.54675	1.05;1.03;1.05;1.03;0.56;1.35;1.34;1.38	5.7	5.7	0.88788	.	0.178242	0.49916	D	0.000123	T	0.37489	0.1005	N	0.24115	0.695	0.80722	D	1	B;B;P	0.37997	0.382;0.229;0.614	B;B;B	0.23018	0.043;0.035;0.026	T	0.35699	-0.9778	10	0.51188	T	0.08	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	35;35;35	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	K	35	ENSP00000347088:E35K;ENSP00000336636:E35K;ENSP00000380549:E35K;ENSP00000385223:E35K;ENSP00000388544:E35K;ENSP00000396277:E35K;ENSP00000415546:E35K;ENSP00000389605:E35K	ENSP00000336636:E35K	E	-	1	0	LARGE	32487361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.972000	0.56838	2.680000	0.91292	0.561000	0.74099	GAA	LARGE	-	NULL		0.483	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		34157361	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34157361	C	T	34157361	3	4	160	1	0	0	0	0	1	0	0	0	8647	893	31	1	2223	1	LARGE	22	34157361	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	486874	34157361	17147205	2173	30446										
APOL6	80830	genome.wustl.edu	37	chr22	36055124	36055124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acagctgctggaaagattatCtataatcttagaaacacctt	6	8	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:36055124C>T	ENST00000409652.4	+	3	789	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	171					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GAAAGATTATCTATAATCTTA	0.498																																																	0													61	62	62					22																	36055124		2203	4300	6503	SO:0001819	synonymous_variant	80830			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.513C>T	22.37:g.36055124C>T			Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	pfam_ApoL	p.I171	ENST00000409652.4	37	c.513	CCDS13919.1	22																																																																																			APOL6	-	pfam_ApoL		0.498	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL6	HGNC	protein_coding	OTTHUMT00000319081.2	C	NM_030641		36055124	1	no_errors	ENST00000409652	ensembl	human	known	70_37	silent	SNP	0.000	T	T	36055124	C	T	36055124	2	4	160	1	0	0	0	0	0	0	0	1	810	903	32	1		1	APOL6	22	36055124	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1897763	36055124	15249442	2174	30447										
FOXRED2	80020	genome.wustl.edu	37	chr22	36889694	36889694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agttacctgcatagaagcttCgcaaatcggtgtccaaacag	9	10	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:36889694C>T	ENST00000397224.4	-	8	1874	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R594Q|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R594Q|FOXRED2_ENST00000366463.3_Missense_Mutation_p.R146Q	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	594					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATAGAAGCTTCGCAAATCGGT	0.517																																																	0													63	62	63					22																	36889694		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1781G>A	22.37:g.36889694C>T	ENSP00000380401:p.Arg594Gln		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R594Q	ENST00000397224.4	37	c.1781	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.569995	0.96540	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.55760	2.02;2.02;0.5;2.02	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	P	0.54060	0.741	T	0.72017	-0.4417	10	0.72032	D	0.01	-7.8924	18.457	0.90724	0.0:1.0:0.0:0.0	.	594	Q8IWF2	FXRD2_HUMAN	Q	594;594;146;594	ENSP00000380401:R594Q;ENSP00000216187:R594Q;ENSP00000382543:R146Q;ENSP00000380400:R594Q	ENSP00000216187:R594Q	R	-	2	0	FOXRED2	35219640	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	7.167000	0.77562	2.350000	0.79820	0.650000	0.86243	CGA	FOXRED2	-	NULL		0.517	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955		36889694	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36889694	C	T	36889694	3	4	160	1	0	0	0	0	1	0	0	0	6052	884	31	1	281	1	FOXRED2	22	36889694	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	834570	36889694	14414872	2175	30448										
C1QTNF6	114904	genome.wustl.edu	37	chr22	37581393	37581393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccgttggcagccgctggccaCagctctgtcaaaggtgagct	13	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:37581393C>G	ENST00000337843.2	-	2	229	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V52L|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_5'Flank	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	33					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGCTGGCCACAGCTCTGTCA	0.647																																																	0													34	34	34					22																	37581393		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.154G>C	22.37:g.37581393C>G	ENSP00000338812:p.Val52Leu		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.V52L	ENST00000337843.2	37	c.154	CCDS13943.1	22	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311656	0.10789	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.37411	1.2;1.2	3.76	2.74	0.32292	.	0.635159	0.13782	N	0.363142	T	0.23611	0.0571	L	0.36672	1.1	0.20563	N	0.999883	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.0	T	0.07462	-1.0771	10	0.25751	T	0.34	.	4.9179	0.13854	0.0:0.7701:0.0:0.2299	.	52;33	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	L	52	ENSP00000380299:V52L;ENSP00000338812:V52L	ENSP00000338812:V52L	V	-	1	0	C1QTNF6	35911339	0.042000	0.20092	0.046000	0.18839	0.127000	0.20565	0.976000	0.29462	2.039000	0.60335	0.491000	0.48974	GTG	C1QTNF6	-	NULL		0.647	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	C	NM_182486		37581393	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	missense	SNP	0.013	G	G	37581393	C	G	37581393	3	3	160	1	0	0	0	0	1	0	0	0	1972	478	17	4	690	4	C1QTNF6	22	37581393	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	691699	37581393	13723173	2176	30449										
CDC42EP1	11135	genome.wustl.edu	37	chr22	37962412	37962412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgagcctgggcaagctctCgcctgtgggctgggtgtcca	15	12	1	1	rs368492182		TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:37962412C>T	ENST00000249014.4	+	2	476	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	19					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGCAAGCTCTCGCCTGTGGGC	0.667																																																	0								C	LEU/SER	1,4403		0,1,2201	19	22	21		56	5	0.8	22		21	0,8598		0,0,4299	no	missense	CDC42EP1	NM_152243.2	145	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	19/392	37962412	1,13001	2202	4299	6501	SO:0001583	missense	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.56C>T	22.37:g.37962412C>T	ENSP00000249014:p.Ser19Leu		A8K825|Q96GN1	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.S19L	ENST00000249014.4	37	c.56	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729545	0.48833	2.27E-4	0.0	ENSG00000128283	ENST00000249014;ENST00000430687;ENST00000415670;ENST00000434728	T	0.36340	1.26	4.99	4.99	0.66335	.	0.615828	0.15522	N	0.258008	T	0.23410	0.0566	N	0.19112	0.55	0.54753	D	0.999981	P	0.48640	0.913	B	0.31390	0.129	T	0.21965	-1.0230	10	0.49607	T	0.09	-3.6756	18.6422	0.91399	0.0:1.0:0.0:0.0	.	19	Q00587	BORG5_HUMAN	L	19	ENSP00000249014:S19L	ENSP00000249014:S19L	S	+	2	0	CDC42EP1	36292358	1.000000	0.71417	0.777000	0.31699	0.628000	0.37860	6.976000	0.76135	2.465000	0.83290	0.563000	0.77884	TCG	CDC42EP1	-	NULL		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	C	NM_152243		37962412	1	no_errors	ENST00000249014	ensembl	human	known	70_37	missense	SNP	0.998	T	T	37962412	C	T	37962412	3	4	160	1	0	0	0	0	1	0	0	0	3080	893	31	1	58	1	CDC42EP1	22	37962412	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	381019	37962412	13342154	2177	30450										
SYNGR1	9145	genome.wustl.edu	37	chr22	39770506	39770506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gacgtgtacttcccgcagatCagcagcgtcaaggaccgcaa	11	13	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:39770506C>G	ENST00000328933.5	+	2	300	c.285C>G	c.(283-285)atC>atG	p.I95M	SYNGR1_ENST00000406293.3_Missense_Mutation_p.I95M|SYNGR1_ENST00000381535.4_Missense_Mutation_p.I96M|SYNGR1_ENST00000318801.4_Missense_Mutation_p.I95M|SYNGR1_ENST00000216155.7_Missense_Mutation_p.I95M	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	95	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCCCGCAGATCAGCAGCGTCA	0.647																																																	0													130	88	102					22																	39770506		2203	4300	6503	SO:0001583	missense	9145			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.285C>G	22.37:g.39770506C>G	ENSP00000332287:p.Ile95Met		A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	p.I95M	ENST00000328933.5	37	c.285	CCDS13989.1	22	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222905	0.79464	.	.	ENSG00000100321	ENST00000318801;ENST00000216155;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T	0.68331	0.66;0.65;0.67;-0.32	5.18	4.15	0.48705	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.62723	1.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.985;1.0	D;P;D	0.91635	0.999;0.81;0.999	T	0.76724	-0.2854	10	0.39692	T	0.17	.	12.8817	0.58020	0.296:0.704:0.0:0.0	.	96;95;95	O43759-3;O43759;O43759-2	.;SNG1_HUMAN;.	M	95;95;95;95;96	ENSP00000318845:I95M;ENSP00000216155:I95M;ENSP00000385447:I95M;ENSP00000332287:I95M	ENSP00000216155:I95M	I	+	3	3	SYNGR1	38100452	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.603000	0.46266	1.135000	0.42183	0.561000	0.74099	ATC	SYNGR1	-	pfam_MARVEL-like_dom,pirsf_Synaptogyrin		0.647	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR1	HGNC	protein_coding	OTTHUMT00000075866.2	C	NM_004711		39770506	1	no_errors	ENST00000328933	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39770506	C	G	39770506	3	3	160	1	0	0	0	0	1	0	0	0	15478	816	29	1	397	1	SYNGR1	22	39770506	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1808094	39770506	11534060	2178	30451										
RPS19BP1	91582	genome.wustl.edu	37	chr22	39928446	39928446	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggccgagttccgcagtttCtgggcctgaattgccttcgt	12	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:39928446C>G	ENST00000334678.3	-	2	251	c.135G>C	c.(133-135)caG>caC	p.Q45H		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	45						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					TCCGCAGTTTCTGGGCCTGAA	0.657																																																	0													72	65	67					22																	39928446		2203	4300	6503	SO:0001583	missense	91582			BC037573	CCDS13997.1	22q13.1	2006-03-17			ENSG00000187051	ENSG00000187051			28749	protein-coding gene	gene with protein product		610225				16289379	Standard	NM_194326		Approved	MGC52010, FLJ21770	uc003ayb.3	Q86WX3	OTTHUMG00000151101	ENST00000334678.3:c.135G>C	22.37:g.39928446C>G	ENSP00000333948:p.Gln45His		B0QY96|Q5JZA1	Missense_Mutation	SNP	prints_Active_regulator_of_SIRT1	p.Q45H	ENST00000334678.3	37	c.135	CCDS13997.1	22	.	.	.	.	.	.	.	.	.	.	C	10.54	1.380111	0.24944	.	.	ENSG00000187051	ENST00000334678	T	0.46819	0.86	4.72	3.69	0.42338	.	0.669252	0.14459	N	0.318313	T	0.40595	0.1123	L	0.47716	1.5	0.27574	N	0.949805	P	0.39624	0.681	B	0.38755	0.281	T	0.25502	-1.0130	10	0.41790	T	0.15	-6.5634	9.528	0.39175	0.0:0.8987:0.0:0.1013	.	45	Q86WX3	AROS_HUMAN	H	45	ENSP00000333948:Q45H	ENSP00000333948:Q45H	Q	-	3	2	RPS19BP1	38258392	0.998000	0.40836	0.803000	0.32268	0.099000	0.18886	0.642000	0.24735	1.291000	0.44653	-0.258000	0.10820	CAG	RPS19BP1	-	NULL		0.657	RPS19BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19BP1	HGNC	protein_coding	OTTHUMT00000321307.1	C	NM_194326		39928446	-1	no_errors	ENST00000334678	ensembl	human	known	70_37	missense	SNP	0.944	G	G	39928446	C	G	39928446	3	3	160	1	0	0	0	0	1	0	0	0	13660	912	32	1	287	1	RPS19BP1	22	39928446	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	157940	39928446	11376120	2179	30452										
L3MBTL2	83746	genome.wustl.edu	37	chr22	41617260	41617260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	catgaaacggctggtgggctCcaggacgcttcccgtggatt	14	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:41617260C>T	ENST00000216237.5	+	8	1069	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	304					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGTGGGCTCCAGGACGCTT	0.547																																																	0													71	47	55					22																	41617260		2011	3825	5836	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.911C>T	22.37:g.41617260C>T	ENSP00000216237:p.Ser304Phe		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.S304F	ENST00000216237.5	37	c.911	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085302	0.76642	.	.	ENSG00000100395	ENST00000216237	T	0.42513	0.97	5.68	5.68	0.88126	.	0.309714	0.39274	N	0.001414	T	0.41119	0.1145	N	0.22421	0.69	0.44816	D	0.997826	P;B	0.41569	0.755;0.167	P;B	0.44990	0.466;0.163	T	0.38200	-0.9672	10	0.87932	D	0	.	19.785	0.96433	0.0:1.0:0.0:0.0	.	304;304	Q969R5-3;Q969R5	.;LMBL2_HUMAN	F	304	ENSP00000216237:S304F	ENSP00000216237:S304F	S	+	2	0	L3MBTL2	39947206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.040000	0.70980	2.683000	0.91414	0.561000	0.74099	TCC	L3MBTL2	-	smart_Mbt,pfscan_Mbt		0.547	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	C	NM_031488		41617260	1	no_errors	ENST00000216237	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41617260	C	T	41617260	3	4	160	1	0	0	0	0	1	0	0	0	8612	855	30	1	941	1	L3MBTL2	22	41617260	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1688814	41617260	9687306	2180	30453										
ZC3H7B	23264	genome.wustl.edu	37	chr22	41745257	41745257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gggaggacagctgccacttcGcccacagcttcatcgagctc	11	15	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:41745257G>T	ENST00000352645.4	+	16	2157	c.1900G>T	c.(1900-1902)Gcc>Tcc	p.A634S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A634S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	650					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGCCACTTCGCCCACAGCTT	0.632																																																	0													92	71	78					22																	41745257		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1900G>T	22.37:g.41745257G>T	ENSP00000345793:p.Ala634Ser		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A634S	ENST00000352645.4	37	c.1900	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713433	0.89112	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.51574	0.7;0.7	5.2	5.2	0.72013	.	0.049350	0.85682	D	0.000000	T	0.57504	0.2058	M	0.77486	2.375	0.80722	D	1	P	0.36944	0.574	B	0.40477	0.33	T	0.64778	-0.6327	10	0.87932	D	0	-27.8575	18.7452	0.91789	0.0:0.0:1.0:0.0	.	634	Q9UGR2-2	.	S	634	ENSP00000345793:A634S;ENSP00000263243:A634S	ENSP00000263243:A634S	A	+	1	0	ZC3H7B	40075203	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.790000	0.99075	2.435000	0.82474	0.514000	0.50259	GCC	ZC3H7B	-	smart_Znf_CCCH		0.632	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	G	NM_017590		41745257	1	no_errors	ENST00000351589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41745257	G	T	41745257	3	4	160	1	0	0	0	0	1	0	0	0	17603	1087	38	2	1958	2	ZC3H7B	22	41745257	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	127997	41745257	9559309	2181	30454										
PNPLA3	80339	genome.wustl.edu	37	chr22	44319931	44319931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcgcatgttgttcggcgcttCggccggggcgttgcactgcg	17	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:44319931C>T	ENST00000216180.3	+	1	313	c.140C>T	c.(139-141)tCg>tTg	p.S47L	PNPLA3_ENST00000423180.2_Missense_Mutation_p.S47L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	47	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TTCGGCGCTTCGGCCGGGGCG	0.736																																																	0													13	13	13					22																	44319931		2151	4245	6396	SO:0001583	missense	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.140C>T	22.37:g.44319931C>T	ENSP00000216180:p.Ser47Leu		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.S47L	ENST00000216180.3	37	c.140	CCDS14054.1	22	.	.	.	.	.	.	.	.	.	.	c	32	5.125763	0.94429	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	D;D	0.96940	-4.18;-3.8	4.87	3.84	0.44239	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000004	D	0.98488	0.9496	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98988	1.0807	10	0.66056	D	0.02	-17.7889	13.2942	0.60288	0.1597:0.8403:0.0:0.0	.	47	Q9NST1	PLPL3_HUMAN	L	47	ENSP00000216180:S47L;ENSP00000397987:S47L	ENSP00000216180:S47L	S	+	2	0	PNPLA3	42651264	1.000000	0.71417	0.013000	0.15412	0.698000	0.40448	7.002000	0.76304	1.017000	0.39495	0.298000	0.19748	TCG	PNPLA3	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.736	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	C	NM_025225		44319931	1	no_errors	ENST00000216180	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44319931	C	T	44319931	3	4	160	1	0	0	0	0	1	0	0	0	12190	893	31	1	142	1	PNPLA3	22	44319931	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2574674	44319931	6984635	2182	30455										
KIAA1644	85352	genome.wustl.edu	37	chr22	44681447	44681447	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgacccggccgaggggcccGagcggggttcccccaccgcc	15	19	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:44681447G>C	ENST00000381176.4	-	4	592	c.460C>G	c.(460-462)Cgg>Ggg	p.R154G		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	154						integral component of membrane (GO:0016021)		p.R154W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGAGGGGCCCGAGCGGGGTTC	0.687																																																	1	Substitution - Missense(1)	large_intestine(1)											43	47	46					22																	44681447		1887	4120	6007	SO:0001583	missense	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.460C>G	22.37:g.44681447G>C	ENSP00000370568:p.Arg154Gly		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R154G	ENST00000381176.4	37	c.460	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408983	0.25378	.	.	ENSG00000138944	ENST00000381176	.	.	.	4.28	3.24	0.37175	.	0.651810	0.13564	N	0.378521	T	0.20820	0.0501	N	0.03608	-0.345	0.31951	N	0.609632	P	0.35226	0.491	B	0.32342	0.144	T	0.26360	-1.0105	8	0.72032	D	0.01	-14.4147	10.899	0.47040	0.0:0.0:0.7996:0.2004	.	154	Q3SXP7	K1644_HUMAN	G	154	.	ENSP00000370568:R154G	R	-	1	2	KIAA1644	43012780	1.000000	0.71417	0.947000	0.38551	0.264000	0.26372	2.294000	0.43567	0.889000	0.36185	0.561000	0.74099	CGG	KIAA1644	-	NULL		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	G	NM_001099294		44681447	-1	no_errors	ENST00000381176	ensembl	human	putative	70_37	missense	SNP	0.998	C	C	44681447	G	C	44681447	3	2	160	1	0	0	0	0	1	0	0	0	8270	1057	37	1	147	1	KIAA1644	22	44681447	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	361516	44681447	6623119	2183	30456										
PRR5	55615	genome.wustl.edu	37	chr22	45132663	45132663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tctccccagaaaagcgcctcCtccgccgctcccgctcgggg	10	20	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45132663C>T	ENST00000336985.6	+	8	980	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.L258F|PRR5_ENST00000006251.7_Missense_Mutation_p.L226F|PRR5_ENST00000477331.1_3'UTR	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	235					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AAAGCGCCTCCTCCGCCGCTC	0.677																																																	0													42	49	46					22																	45132663		2189	4278	6467	SO:0001583	missense	55615			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"protein observed with Rictor-1"	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.703C>T	22.37:g.45132663C>T	ENSP00000337464:p.Leu235Phe		B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	pfam_HbrB	p.L235F	ENST00000336985.6	37	c.703	CCDS14058.1	22	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339084	0.05243	.	.	ENSG00000186654	ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985;ENST00000457960	T;T;T;T;T	0.51325	1.5;1.47;1.45;1.47;0.71	5.41	3.1	0.35709	.	.	.	.	.	T	0.22513	0.0543	N	0.10874	0.06	0.30346	N	0.785283	B;B;B;B;B	0.15473	0.013;0.003;0.006;0.003;0.003	B;B;B;B;B	0.14023	0.007;0.002;0.01;0.002;0.002	T	0.25047	-1.0143	9	0.10111	T	0.7	.	4.9352	0.13937	0.0:0.5999:0.2284:0.1716	.	199;258;134;235;235	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	F	226;226;199;258;235;226	ENSP00000400925:L226F;ENSP00000006251:L226F;ENSP00000384848:L258F;ENSP00000337464:L235F;ENSP00000410215:L226F	ENSP00000006251:L226F	L	+	1	0	PRR5	43511327	0.710000	0.27896	0.351000	0.25721	0.136000	0.21042	2.184000	0.42575	1.256000	0.44068	0.313000	0.20887	CTC	PRR5	-	NULL		0.677	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR5	HGNC	protein_coding	OTTHUMT00000318200.2	C	NM_001017528		45132663	1	no_errors	ENST00000336985	ensembl	human	known	70_37	missense	SNP	0.043	T	T	45132663	C	T	45132663	3	4	160	1	0	0	0	0	1	0	0	0	12627	681	24	4	733	4	PRR5	22	45132663	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	451216	45132663	6171903	2184	30457										
ARHGAP8	23779	genome.wustl.edu	37	chr22	45210624	45210624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggtcctgtggaacatcttGaagcccctcatcaggtatgc	10	11	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45210624G>A	ENST00000389774.2	+	6	606	c.465G>A	c.(463-465)ttG>ttA	p.L155L	ARHGAP8_ENST00000389773.5_Silent_p.L246L|ARHGAP8_ENST00000517296.3_Silent_p.L334L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L255L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L334L|ARHGAP8_ENST00000336963.4_Silent_p.L124L|ARHGAP8_ENST00000356099.6_Silent_p.L124L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	155	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GGAACATCTTGAAGCCCCTCA	0.572																																																	0													141	113	123					22																	45210624		2203	4300	6503	SO:0001819	synonymous_variant	23779			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.465G>A	22.37:g.45210624G>A			A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.E145K	ENST00000389774.2	37	c.433	CCDS33664.1	22																																																																																			ARHGAP8	-	NULL		0.572	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP8	HGNC	protein_coding	OTTHUMT00000075088.4	G	NM_017701		45210624	1	no_errors	ENST00000447333	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45210624	G	A	45210624	2	1	160	1	0	0	0	0	0	0	0	1	888	1281	45	1		1	ARHGAP8	22	45210624	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	77961	45210624	6093942	2185	30458										
PHF21B	112885	genome.wustl.edu	37	chr22	45309894	45309894	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtgatggggagggaggggtGaggggaagagaggaggggtg	27	0	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45309894G>C	ENST00000313237.5	-	5	789	c.639C>G	c.(637-639)ctC>ctG	p.L213L	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	213							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		agggaggggtgaggggaagag	0.642																																																	0													27	27	27					22																	45309894		2200	4297	6497	SO:0001819	synonymous_variant	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.639C>G	22.37:g.45309894G>C			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L213	ENST00000313237.5	37	c.639	CCDS14061.1	22																																																																																			PHF21B	-	NULL		0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	G	NM_138415		45309894	-1	no_errors	ENST00000313237	ensembl	human	known	70_37	silent	SNP	0.000	C	C	45309894	G	C	45309894	2	2	160	1	0	0	0	0	0	0	0	1	11858	1277	45	1		1	PHF21B	22	45309894	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	99270	45309894	5994672	2186	30459										
RIBC2	26150	genome.wustl.edu	37	chr22	45813487	45813487	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctgtatctcttccagctgctGaaatgaggcaaaatgacaaa	8	9	1	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45813487G>A	ENST00000342894.3	+	0	412				RIBC2_ENST00000538017.1_Missense_Mutation_p.E68K			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCCAGCTGCTGAAATGAGGCA	0.328																																																	0													42	42	42					22																	45813487		2203	4300	6503	SO:0001623	5_prime_UTR_variant	26150			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.-3G>A	22.37:g.45813487G>A			Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RIB43A	p.E68K	ENST00000342894.3	37	c.202		22	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841574	0.71488	.	.	ENSG00000128408	ENST00000538017	T	0.22134	1.97	4.85	4.85	0.62838	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.45272	D	0.998272	.	.	.	.	.	.	T	0.02837	-1.1104	6	0.41790	T	0.15	.	13.6903	0.62542	0.0:0.1547:0.8453:0.0	.	.	.	.	K	68	ENSP00000444196:E68K	ENSP00000444196:E68K	E	+	1	0	RIBC2	44192151	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.019000	0.57181	2.219000	0.72066	0.563000	0.77884	GAA	RIBC2	-	pfam_RIB43A		0.328	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	G	NM_015653		45813487	1	no_errors	ENST00000538017	ensembl	human	known	70_37	missense	SNP	0.999	A	A	45813487	G	A	45813487	1	1	160	0	1	0	0	0	0	0	0	0	13383	1291	45	1		1	RIBC2	22	45813487	5'UTR	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	503593	45813487	5491079	2187	30460										
FBLN1	2192	genome.wustl.edu	37	chr22	45970481	45970481	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcgaccccgtgcacaccatCtcccacaccgtcatctcgct	5	20	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:45970481C>G	ENST00000327858.6	+	15	1883	c.1788C>G	c.(1786-1788)atC>atG	p.I596M	FBLN1_ENST00000348697.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	596					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCACACCATCTCCCACACCG	0.647																																																	0													221	122	155					22																	45970481		2203	4300	6503	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1788C>G	22.37:g.45970481C>G	ENSP00000331544:p.Ile596Met		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.I596M	ENST00000327858.6	37	c.1788	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145230	0.57044	.	.	ENSG00000077942	ENST00000327858	D	0.84944	-1.92	4.94	2.63	0.31362	.	0.606187	0.17013	N	0.190402	T	0.76407	0.3983	N	0.24115	0.695	0.80722	D	1	P	0.44776	0.843	P	0.48270	0.572	T	0.72795	-0.4185	10	0.51188	T	0.08	.	2.0262	0.03519	0.1983:0.4781:0.1925:0.1311	.	596	P23142	FBLN1_HUMAN	M	596	ENSP00000331544:I596M	ENSP00000331544:I596M	I	+	3	3	FBLN1	44349145	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.784000	0.26816	1.015000	0.39444	0.563000	0.77884	ATC	FBLN1	-	pirsf_Fibulin-1		0.647	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	C	NM_006486		45970481	1	no_errors	ENST00000327858	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45970481	C	G	45970481	3	3	160	1	0	0	0	0	1	0	0	0	5716	903	32	1	2326	1	FBLN1	22	45970481	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	156994	45970481	5334085	2188	30461										
SAPS2	9701	genome.wustl.edu	37	chr22	50878267	50878267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaggctgggccaagttcactGacttccaacctttctgctgg	10	12	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:50878267G>A	ENST00000216061.5	+	21	2636	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	PPP6R2_ENST00000395744.3_Missense_Mutation_p.D729N|PPP6R2_ENST00000395741.3_Missense_Mutation_p.D730N|PPP6R2_ENST00000359139.3_Missense_Mutation_p.D730N			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	756						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAAGTTCACTGACTTCCAACC	0.622																																																	0													76	72	74					22																	50878267		2202	4300	6502	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2266G>A	22.37:g.50878267G>A	ENSP00000216061:p.Asp756Asn		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.D756N	ENST00000216061.5	37	c.2266		22	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261212	0.80246	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.04	5.04	0.67666	.	0.093853	0.64402	D	0.000001	T	0.65471	0.2694	M	0.67953	2.075	0.43238	D	0.995141	D;D;D;P;D;P	0.89917	1.0;1.0;0.999;0.929;1.0;0.929	D;D;D;P;D;P	0.74348	0.962;0.983;0.962;0.614;0.983;0.614	T	0.60403	-0.7270	10	0.21540	T	0.41	-40.804	17.5101	0.87758	0.0:0.0:1.0:0.0	.	289;756;756;730;729;730	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	N	730;730;729;756	ENSP00000352051:D730N;ENSP00000379090:D730N;ENSP00000379093:D729N;ENSP00000216061:D756N	ENSP00000216061:D756N	D	+	1	0	PPP6R2	49225133	1.000000	0.71417	0.986000	0.45419	0.910000	0.53928	5.757000	0.68766	2.504000	0.84457	0.561000	0.74099	GAC	PPP6R2	-	NULL		0.622	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	G	NM_014678		50878267	1	no_errors	ENST00000216061	ensembl	human	known	70_37	missense	SNP	0.999	A	A	50878267	G	A	50878267	3	1	160	1	0	0	0	0	1	0	0	0	13867	1290	45	1	2251	1	SAPS2	22	50878267	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4907786	50878267	426299	2189	30462										
SBF1	6305	genome.wustl.edu	37	chr22	50903265	50903265	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tacgttcttgtagagctgctCtgccagttcctggacgtgac	11	11	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:50903265C>G	ENST00000390679.3	-	13	1598	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	SBF1_ENST00000348911.6_Missense_Mutation_p.E473Q|SBF1_ENST00000380817.3_Missense_Mutation_p.E472Q			O95248	MTMR5_HUMAN	SET binding factor 1	472					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAGCTGCTCTGCCAGTTCC	0.662																																																	0													46	53	51					22																	50903265		2141	4236	6377	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1414G>C	22.37:g.50903265C>G	ENSP00000375097:p.Glu472Gln		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.E472Q	ENST00000390679.3	37	c.1414		22	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413783	0.62511	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86694	-2.16;-2.15;-2.15	4.17	4.17	0.49024	.	0.133174	0.49305	D	0.000141	D	0.90130	0.6916	L	0.43701	1.375	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.994;0.997;0.994	D	0.88139	0.2843	10	0.25751	T	0.34	.	16.272	0.82626	0.0:1.0:0.0:0.0	.	472;473;472	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	472;473;483;482;472	ENSP00000370196:E472Q;ENSP00000252027:E473Q;ENSP00000375097:E472Q	ENSP00000336522:E482Q	E	-	1	0	SBF1	49250131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.387000	0.59626	2.156000	0.67533	0.591000	0.81541	GAG	SBF1	-	NULL		0.662	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		C			50903265	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50903265	C	G	50903265	3	3	160	1	0	0	0	0	1	0	0	0	13888	922	32	1	4383	1	SBF1	22	50903265	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	24998	50903265	401301	2190	30463										
CPT1B	1375	genome.wustl.edu	37	chr22	51009456	51009456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tagcagccttctggaagagaTctcgcaggtctgctttctgc	11	11	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chr22:51009456T>C	ENST00000360719.2	-	16	2029	c.1892A>G	c.(1891-1893)gAt>gGt	p.D631G	CPT1B_ENST00000312108.7_Missense_Mutation_p.D631G|CPT1B_ENST00000457250.1_Missense_Mutation_p.D597G|CPT1B_ENST00000395650.2_Missense_Mutation_p.D631G|CPT1B_ENST00000434492.2_Missense_Mutation_p.D426G|CPT1B_ENST00000405237.3_Missense_Mutation_p.D631G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.D550G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	631					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGGAAGAGATCTCGCAGGTC	0.597																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													144	150	148					22																	51009456		2203	4300	6503	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1892A>G	22.37:g.51009456T>C	ENSP00000353945:p.Asp631Gly		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D631G	ENST00000360719.2	37	c.1892	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	T	7.362	0.625129	0.14257	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.74	2.4	0.29515	.	0.342627	0.32687	N	0.005772	T	0.79209	0.4407	L	0.31804	0.96	0.18873	N	0.999982	B;B;B;B	0.19935	0.019;0.0;0.0;0.04	B;B;B;B	0.29440	0.024;0.003;0.005;0.102	T	0.64715	-0.6342	10	0.36615	T	0.2	-3.1821	1.4551	0.02383	0.1414:0.1572:0.1469:0.5544	.	550;597;426;631	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	G	631;631;631;597;550;426;631	ENSP00000385486:D631G;ENSP00000312189:D631G;ENSP00000353945:D631G;ENSP00000409342:D597G;ENSP00000414713:D550G;ENSP00000410966:D426G;ENSP00000379011:D631G	ENSP00000312189:D631G	D	-	2	0	CPT1B	49356322	0.000000	0.05858	0.004000	0.12327	0.663000	0.39108	-1.003000	0.03682	0.087000	0.17167	0.533000	0.62120	GAT	CPT1B	-	pfam_Carn_acyl_trans		0.597	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	T	NM_152246		51009456	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	missense	SNP	0.257	C	C	51009456	T	C	51009456	3	2	160	1	0	0	0	0	1	0	0	0	3837	1435	50	5	442	5	CPT1B	22	51009456	Missense_Mutation	SNP	T	TCGA-JW-A5VL-01A-11D-A28B-09	106191	51009456	295110	2191	30464										
ZBED1	9189	genome.wustl.edu	37	chrX	2408336	2408336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aggtgggctcgtccacgatgGaggctgggtacagcccctcg	16	12	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:2408336G>A	ENST00000381223.4	-	2	628	c.425C>T	c.(424-426)tCc>tTc	p.S142F	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.S142F|ZBED1_ENST00000381218.3_Missense_Mutation_p.S142F|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	142					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCACGATGGAGGCTGGGTA	0.662																																																	0													70	72	71					X																	2408336		2203	4296	6499	SO:0001583	missense	9189			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.425C>T	X.37:g.2408336G>A	ENSP00000370621:p.Ser142Phe		Q96BY4	Missense_Mutation	SNP	pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S142F	ENST00000381223.4	37	c.425	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958813	0.34565	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	2.62	0.31277	.	0.186435	0.33553	U	0.004782	T	0.64886	0.2639	.	.	.	0.09310	N	0.999998	D	0.65815	0.995	D	0.72982	0.979	T	0.58284	-0.7663	8	0.72032	D	0.01	-41.4938	13.0583	0.58992	0.0:0.0:1.0:0.0	.	142	O96006	ZBED1_HUMAN	F	142	.	ENSP00000370616:S142F	S	-	2	0	ZBED1	2418336	1.000000	0.71417	0.995000	0.50966	0.505000	0.33919	2.100000	0.41777	1.086000	0.41228	0.425000	0.28330	TCC	ZBED1	-	NULL		0.662	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	G	NM_004729		2408336	-1	no_errors	ENST00000381218	ensembl	human	known	70_37	missense	SNP	0.953	A	A	2408336	G	A	2408336	3	1	160	1	0	0	0	0	1	0	0	0	17548	1174	41	1	1663	1	ZBED1	23	2408336	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09		2408336	152862224	2192	30465										
MXRA5	25878	genome.wustl.edu	37	chrX	3239349	3239349	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcaagatgatcttgatcaagGgtggtggtttctgcctgact	12	7	4	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:3239349G>T	ENST00000217939.6	-	5	4531	c.4377C>A	c.(4375-4377)acC>acA	p.T1459T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1459						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTGATCAAGGGTGGTGGTTT	0.488																																																	0													76	66	69					X																	3239349		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4377C>A	X.37:g.3239349G>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T1459	ENST00000217939.6	37	c.4377	CCDS14124.1	X																																																																																			MXRA5	-	NULL		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3239349	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	silent	SNP	0.000	T	T	3239349	G	T	3239349	2	4	160	1	0	0	0	0	0	0	0	1	10026	1219	43	4		4	MXRA5	23	3239349	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	831013	3239349	152031211	2193	30466										
MXRA5	25878	genome.wustl.edu	37	chrX	3241581	3241581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	acctcttggtcctttggatgCagaagtctccttgaagtgtt	10	9	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:3241581C>T	ENST00000217939.6	-	5	2299	c.2145G>A	c.(2143-2145)ctG>ctA	p.L715L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	715						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTTGGATGCAGAAGTCTCC	0.498																																																	0													84	74	77					X																	3241581		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2145G>A	X.37:g.3241581C>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L715	ENST00000217939.6	37	c.2145	CCDS14124.1	X																																																																																			MXRA5	-	NULL		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3241581	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	silent	SNP	0.000	T	T	3241581	C	T	3241581	2	4	160	1	0	0	0	0	0	0	0	1	10026	697	25	4		4	MXRA5	23	3241581	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	2232	3241581	152028979	2194	30467										
FAM9A	171482	genome.wustl.edu	37	chrX	8761788	8761788	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccacctcttctgtttttcttGaaatgctttctagaagcaca	5	11	4	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:8761788G>C	ENST00000543214.1	-	8	976	c.841C>G	c.(841-843)Caa>Gaa	p.Q281E	FAM9A_ENST00000381003.3_Missense_Mutation_p.Q281E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	281						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TGTTTTTCTTGAAATGCTTTC	0.353																																																	0													91	80	84					X																	8761788		2203	4300	6503	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.841C>G	X.37:g.8761788G>C	ENSP00000440163:p.Gln281Glu		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	NULL	p.Q281E	ENST00000543214.1	37	c.841	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	g	4.105	0.017640	0.07959	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	0.678	0.17969	.	.	.	.	.	T	0.26484	0.0647	N	0.19112	0.55	0.09310	N	1	P	0.45594	0.862	P	0.45829	0.494	T	0.14392	-1.0474	7	0.87932	D	0	.	.	.	.	.	281	Q8IZU1	FAM9A_HUMAN	E	281	.	ENSP00000370391:Q281E	Q	-	1	0	FAM9A	8721788	0.989000	0.36119	0.003000	0.11579	0.005000	0.04900	1.449000	0.35123	0.609000	0.30018	0.458000	0.33432	CAA	FAM9A	-	NULL		0.353	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	G	NM_174951		8761788	-1	no_errors	ENST00000381003	ensembl	human	known	70_37	missense	SNP	0.003	C	C	8761788	G	C	8761788	3	2	160	1	0	0	0	0	1	0	0	0	5677	1299	45	1	165	1	FAM9A	23	8761788	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5520207	8761788	146508772	2195	30468										
GPR143	4935	genome.wustl.edu	37	chrX	9693818	9693818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atgggttgggagagcagggtCaccctcatttttgttgcagg	15	7	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:9693818C>G	ENST00000467482.1	-	9	1329	c.1183G>C	c.(1183-1185)Gac>Cac	p.D395H	GPR143_ENST00000380929.2_Missense_Mutation_p.D415H			P51810	GP143_HUMAN	G protein-coupled receptor 143	395					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AGAGCAGGGTCACCCTCATTT	0.473																																																	0													193	145	161					X																	9693818		2203	4300	6503	SO:0001583	missense	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.1183G>C	X.37:g.9693818C>G	ENSP00000417161:p.Asp395His		Q6NTI7	Missense_Mutation	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.D415H	ENST00000467482.1	37	c.1243	CCDS14134.2	X	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320709	0.41096	.	.	ENSG00000101850	ENST00000467482;ENST00000380929	D;D	0.99458	-5.93;-5.93	4.27	1.32	0.21799	.	1.114580	0.06840	N	0.795472	D	0.97911	0.9313	L	0.43152	1.355	0.09310	N	1	P	0.37573	0.6	B	0.39119	0.291	D	0.96078	0.9051	10	0.66056	D	0.02	-7.032	3.3732	0.07228	0.174:0.5599:0.1657:0.1004	.	395	P51810	GP143_HUMAN	H	395;415	ENSP00000417161:D395H;ENSP00000370316:D415H	ENSP00000370316:D415H	D	-	1	0	GPR143	9653818	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.326000	0.19646	-0.070000	0.12908	0.429000	0.28392	GAC	GPR143	-	pfam_Ocular_alb1		0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	C	NM_000273		9693818	-1	no_errors	ENST00000380929	ensembl	human	known	70_37	missense	SNP	0.000	G	G	9693818	C	G	9693818	3	3	160	1	0	0	0	0	1	0	0	0	6670	826	29	1	35	1	GPR143	23	9693818	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	932030	9693818	145576742	2196	30469										
TLR7	51284	genome.wustl.edu	37	chrX	12905598	12905598	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaattagaggaattagacatCtctaaaaattccctaagttt	5	6	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:12905598C>G	ENST00000380659.3	+	3	2110	c.1971C>G	c.(1969-1971)atC>atG	p.I657M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	657					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AATTAGACATCTCTAAAAATT	0.343																																																	0													68	74	72					X																	12905598		2202	4297	6499	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1971C>G	X.37:g.12905598C>G	ENSP00000370034:p.Ile657Met		D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I657M	ENST00000380659.3	37	c.1971	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882169	0.33255	.	.	ENSG00000196664	ENST00000380659	T	0.80824	-1.42	5.46	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	L	0.33339	1.005	0.47698	D	0.999499	D	0.89917	1.0	D	0.83275	0.996	T	0.76764	-0.2839	10	0.72032	D	0.01	.	2.8079	0.05432	0.0:0.2792:0.2431:0.4778	.	657	Q9NYK1	TLR7_HUMAN	M	657	ENSP00000370034:I657M	ENSP00000370034:I657M	I	+	3	3	TLR7	12815519	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.743000	0.26231	0.478000	0.27488	0.529000	0.55759	ATC	TLR7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.343	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	C	NM_016562		12905598	1	no_errors	ENST00000380659	ensembl	human	known	70_37	missense	SNP	1.000	G	G	12905598	C	G	12905598	3	3	160	1	0	0	0	0	1	0	0	0	15986	903	32	1	1977	1	TLR7	23	12905598	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3211780	12905598	142364962	2197	30470										
TLR7	51284	genome.wustl.edu	37	chrX	12905745	12905745	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacctggaaactttggacctCagccacaaccaactgaccac	6	15	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:12905745C>G	ENST00000380659.3	+	3	2257	c.2118C>G	c.(2116-2118)ctC>ctG	p.L706L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	706					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTTTGGACCTCAGCCACAACC	0.423																																																	0													67	70	69					X																	12905745		2203	4298	6501	SO:0001819	synonymous_variant	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2118C>G	X.37:g.12905745C>G			D1CS69|Q9NR98	Silent	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L706	ENST00000380659.3	37	c.2118	CCDS14151.1	X																																																																																			TLR7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.423	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	C	NM_016562		12905745	1	no_errors	ENST00000380659	ensembl	human	known	70_37	silent	SNP	0.996	G	G	12905745	C	G	12905745	2	3	160	1	0	0	0	0	0	0	0	1	15986	813	29	1		1	TLR7	23	12905745	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	147	12905745	142364815	2198	30471										
BMX	660	genome.wustl.edu	37	chrX	15555355	15555355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcaagtggaaggggcagtatGatgttgctgttaagatgatc	15	4	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:15555355G>A	ENST00000357607.2	+	14	1509	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	BMX_ENST00000342014.6_Missense_Mutation_p.D441N|BMX_ENST00000348343.6_Missense_Mutation_p.D441N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	441	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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGGGCAGTATGATGTTGCTGT	0.473																																																	0													195	169	178					X																	15555355		2203	4300	6503	SO:0001583	missense	660			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.1321G>A	X.37:g.15555355G>A	ENSP00000350224:p.Asp441Asn		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,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif	p.D441N	ENST00000357607.2	37	c.1321	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	g	18.87	3.716059	0.68844	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.56	4.69	0.59074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.173697	0.40064	N	0.001198	T	0.74741	0.3756	L	0.28556	0.865	0.38138	D	0.938351	P	0.41784	0.762	B	0.43155	0.41	T	0.75288	-0.3370	10	0.48119	T	0.1	.	7.5798	0.27959	0.0856:0.0:0.7489:0.1655	.	441	P51813	BMX_HUMAN	N	441	ENSP00000350224:D441N;ENSP00000308774:D441N;ENSP00000340082:D441N	ENSP00000340082:D441N	D	+	1	0	BMX	15465276	1.000000	0.71417	0.043000	0.18650	0.978000	0.69477	2.869000	0.48444	1.088000	0.41272	0.525000	0.51046	GAT	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,pfscan_Prot_kinase_cat_dom		0.473	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	G	NM_001721		15555355	1	no_errors	ENST00000342014	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15555355	G	A	15555355	3	1	160	1	0	0	0	0	1	0	0	0	1474	1290	45	1	1371	1	BMX	23	15555355	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	2649610	15555355	139715205	2199	30472										
GRPR	2925	genome.wustl.edu	37	chrX	16168521	16168521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tttatctggatcatctccatGctgctggccattccagaggc	9	12	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:16168521G>C	ENST00000380289.2	+	2	905	c.507G>C	c.(505-507)atG>atC	p.M169I	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	169					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCATCTCCATGCTGCTGGCCA	0.527																																																	0													147	130	135					X																	16168521		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.507G>C	X.37:g.16168521G>C	ENSP00000369643:p.Met169Ile		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.M169I	ENST00000380289.2	37	c.507	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	G	11.82	1.754099	0.31046	.	.	ENSG00000126010	ENST00000380289	T	0.34275	1.37	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.139393	0.64402	D	0.000004	T	0.21145	0.0509	N	0.11341	0.13	0.58432	D	0.999999	B	0.20368	0.044	B	0.23716	0.048	T	0.08554	-1.0716	10	0.06099	T	0.92	-29.2505	17.4003	0.87458	0.0:0.0:1.0:0.0	.	169	P30550	GRPR_HUMAN	I	169	ENSP00000369643:M169I	ENSP00000369643:M169I	M	+	3	0	GRPR	16078442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.568000	0.82369	2.322000	0.78497	0.600000	0.82982	ATG	GRPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	G	NM_005314		16168521	1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	1.000	C	C	16168521	G	C	16168521	3	2	160	1	0	0	0	0	1	0	0	0	6828	1319	46	4	513	4	GRPR	23	16168521	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	613166	16168521	139102039	2200	30473										
NHS	4810	genome.wustl.edu	37	chrX	17744156	17744156	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagctccacgtgcccctcgCagacctcagaaaccatccct	7	19	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:17744156C>T	ENST00000380060.3	+	6	2205	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	NHS_ENST00000398097.3_Nonsense_Mutation_p.Q467*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	644					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTGCCCCTCGCAGACCTCAGA	0.577																																																	0													106	89	95					X																	17744156		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1867C>T	X.37:g.17744156C>T	ENSP00000369400:p.Gln623*		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	NULL	p.Q623*	ENST00000380060.3	37	c.1867	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.795721	0.98495	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.7718	18.8864	0.92379	0.0:1.0:0.0:0.0	.	.	.	.	X	623;467;465	.	ENSP00000369397:Q465X	Q	+	1	0	NHS	17654077	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	7.487000	0.81328	2.407000	0.81776	0.600000	0.82982	CAG	NHS	-	NULL		0.577	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744156	1	no_errors	ENST00000380060	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	17744156	C	T	17744156	4	4	160	1	0	0	0	0	0	1	0	0	10435	711	25	4	1994	4	NHS	23	17744156	Nonsense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1575635	17744156	137526404	2201	30474										
RS1	6247	genome.wustl.edu	37	chrX	18660271	18660271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgcggtccgagttgccataGaagacctagagagatagagg	15	7	0	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:18660271G>C	ENST00000379984.3	-	6	568	c.528C>G	c.(526-528)ttC>ttG	p.F176L	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	176	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGTTGCCATAGAAGACCTAGA	0.562																																																	0													77	67	71					X																	18660271		2203	4300	6503	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.528C>G	X.37:g.18660271G>C	ENSP00000369320:p.Phe176Leu		Q0QD39	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F176L	ENST00000379984.3	37	c.528	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963130	0.74016	.	.	ENSG00000102104	ENST00000379984	D	0.99186	-5.53	5.64	3.87	0.44632	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	M	0.74546	2.27	0.53005	D	0.999969	D	0.76494	0.999	D	0.83275	0.996	D	0.99353	1.0915	10	0.62326	D	0.03	.	8.7153	0.34408	0.2341:0.0:0.7659:0.0	.	176	O15537	XLRS1_HUMAN	L	176	ENSP00000369320:F176L	ENSP00000369320:F176L	F	-	3	2	RS1	18570192	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.523000	0.45580	1.149000	0.42402	-0.176000	0.13171	TTC	RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.562	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	G			18660271	-1	no_errors	ENST00000379984	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18660271	G	C	18660271	3	2	160	1	0	0	0	0	1	0	0	0	13723	933	33	1	150	1	RS1	23	18660271	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	916115	18660271	136610289	2202	30475										
SH3KBP1	30011	genome.wustl.edu	37	chrX	19764468	19764468	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttcttaaaatcgtttcagaaGacagcaaagagtttccactg	7	8	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:19764468G>C	ENST00000397821.3	-	3	544	c.254C>G	c.(253-255)tCt>tGt	p.S85C	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.S85C|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S48C	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	85					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CGTTTCAGAAGACAGCAAAGA	0.438																																																	0													129	122	124					X																	19764468		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.254C>G	X.37:g.19764468G>C	ENSP00000380921:p.Ser85Cys		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.S85C	ENST00000397821.3	37	c.254	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268586	0.59540	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.52754	1.35;1.46;1.25;0.99;0.65	5.84	5.84	0.93424	.	0.660669	0.16581	N	0.208183	T	0.52158	0.1717	L	0.54323	1.7	0.80722	D	1	P;P	0.51653	0.947;0.94	B;P	0.50231	0.43;0.635	T	0.54860	-0.8230	10	0.72032	D	0.01	-8.9897	9.9012	0.41348	0.0936:0.0:0.9064:0.0	.	85;48	Q96B97;Q5JPT5	SH3K1_HUMAN;.	C	26;85;48;21;85;32	ENSP00000380921:S85C;ENSP00000369020:S48C;ENSP00000369049:S21C;ENSP00000369019:S85C;ENSP00000388766:S32C	ENSP00000369019:S85C	S	-	2	0	SH3KBP1	19674389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.860000	0.55995	2.449000	0.82847	0.600000	0.82982	TCT	SH3KBP1	-	NULL		0.438	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	G	NM_031892		19764468	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19764468	G	C	19764468	3	2	160	1	0	0	0	0	1	0	0	0	14285	942	33	1	1823	1	SH3KBP1	23	19764468	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1104197	19764468	135506092	2203	30476										
CNKSR2	22866	genome.wustl.edu	37	chrX	21627323	21627323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagtgtctcccattcgcaaGacagccagtcagcgccgctc	10	16	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:21627323G>C	ENST00000379510.3	+	20	2316	c.2280G>C	c.(2278-2280)aaG>aaC	p.K760N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.K711N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.K760N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.K730N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	760					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCATTCGCAAGACAGCCAGTC	0.527																																																	0													85	84	85					X																	21627323		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2280G>C	X.37:g.21627323G>C	ENSP00000368824:p.Lys760Asn		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.K760N	ENST00000379510.3	37	c.2280	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225333	0.39300	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19669	2.39;2.13;2.15;2.41	5.51	4.65	0.58169	.	0.088206	0.85682	D	0.000000	T	0.29190	0.0726	L	0.60455	1.87	0.46701	D	0.999169	P;P;D;P	0.54772	0.893;0.937;0.968;0.893	B;P;P;P	0.53450	0.405;0.51;0.726;0.51	T	0.04065	-1.0980	10	0.25106	T	0.35	-24.3466	8.1718	0.31260	0.2466:0.0:0.7534:0.0	.	730;711;352;760	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	N	730;711;760;760	ENSP00000397906:K730N;ENSP00000444633:K711N;ENSP00000279451:K760N;ENSP00000368824:K760N	ENSP00000279451:K760N	K	+	3	2	CNKSR2	21537244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.317000	0.51968	1.083000	0.41159	0.513000	0.50165	AAG	CNKSR2	-	NULL		0.527	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	G	NM_014927		21627323	1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21627323	G	C	21627323	3	2	160	1	0	0	0	0	1	0	0	0	3612	933	33	1	2358	1	CNKSR2	23	21627323	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1862855	21627323	133643237	2204	30477										
PHEX	5251	genome.wustl.edu	37	chrX	22115103	22115103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cacatgaaaaccgaaccagcGaggccatgtacaacaaaatg	8	11	0	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:22115103G>A	ENST00000379374.4	+	8	1445	c.880G>A	c.(880-882)Gag>Aag	p.E294K	PHEX_ENST00000537599.1_Missense_Mutation_p.E294K|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.E197K|PHEX_ENST00000418858.3_5'Flank	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	294					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCGAACCAGCGAGGCCATGTA	0.348																																																	0													156	130	139					X																	22115103		2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.880G>A	X.37:g.22115103G>A	ENSP00000368682:p.Glu294Lys		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E294K	ENST00000379374.4	37	c.880	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350585	0.61183	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.73789	-0.78;-0.78;-0.78	5.2	5.2	0.72013	Peptidase M13 (1);	0.092802	0.64402	D	0.000001	D	0.82870	0.5131	M	0.75615	2.305	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.57846	0.736;0.828	T	0.80569	-0.1324	10	0.21540	T	0.41	.	18.0784	0.89435	0.0:0.0:1.0:0.0	.	294;294	F5GXU4;P78562	.;PHEX_HUMAN	K	294;294;197	ENSP00000368682:E294K;ENSP00000440362:E294K;ENSP00000439418:E197K	ENSP00000368682:E294K	E	+	1	0	PHEX	22025024	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.881000	0.87252	2.293000	0.77203	0.436000	0.28706	GAG	PHEX	-	pfam_Peptidase_M13_N		0.348	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	G	NM_000444		22115103	1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22115103	G	A	22115103	3	1	160	1	0	0	0	0	1	0	0	0	11843	1059	37	1	910	1	PHEX	23	22115103	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	487780	22115103	133155457	2205	30478										
ACOT9	23597	genome.wustl.edu	37	chrX	23722844	23722844	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggaaaaccaatggcacttCtttttccgacatgaacgtga	9	9	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:23722844C>G	ENST00000336430.7	-	14	1329	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	ACOT9_ENST00000379303.5_Missense_Mutation_p.E409Q|ACOT9_ENST00000379295.1_Missense_Mutation_p.E340Q	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	400					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AATGGCACTTCTTTTTCCGAC	0.398																																																	0													175	168	170					X																	23722844		2203	4300	6503	SO:0001583	missense	23597			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1198G>C	X.37:g.23722844C>G	ENSP00000336580:p.Glu400Gln		B3KNC9|B7ZM94	Missense_Mutation	SNP	pfam_Thioestr_supf	p.E409Q	ENST00000336430.7	37	c.1225	CCDS35216.1	X	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104731	0.56291	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295	T;T;T	0.35048	1.33;1.33;1.33	5.09	5.09	0.68999	.	0.233433	0.49916	D	0.000128	T	0.43122	0.1233	L	0.55743	1.74	0.80722	D	1	B;B;B	0.32338	0.12;0.25;0.365	B;B;B	0.41619	0.185;0.197;0.361	T	0.20806	-1.0264	10	0.21540	T	0.41	-10.0087	18.2211	0.89902	0.0:1.0:0.0:0.0	.	367;400;409	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	Q	409;400;340	ENSP00000368605:E409Q;ENSP00000336580:E400Q;ENSP00000368597:E340Q	ENSP00000336580:E400Q	E	-	1	0	ACOT9	23632765	1.000000	0.71417	0.994000	0.49952	0.857000	0.48899	3.938000	0.56583	2.436000	0.82500	0.506000	0.49869	GAA	ACOT9	-	NULL		0.398	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT9	HGNC	protein_coding	OTTHUMT00000056065.1	C	NM_012332		23722844	-1	no_errors	ENST00000379303	ensembl	human	known	70_37	missense	SNP	0.998	G	G	23722844	C	G	23722844	3	3	160	1	0	0	0	0	1	0	0	0	157	922	32	1	129	1	ACOT9	23	23722844	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1607741	23722844	131547716	2206	30479										
KLHL15	80311	genome.wustl.edu	37	chrX	24006133	24006133	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gcagggcatccgagggtactCatcttccttccacttgtttt	9	12	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:24006133C>T	ENST00000328046.8	-	4	1975	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	574					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CGAGGGTACTCATCTTCCTTC	0.448																																																	0													148	121	130					X																	24006133		2203	4300	6503	SO:0001583	missense	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1720G>A	X.37:g.24006133C>T	ENSP00000332791:p.Glu574Lys		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E574K	ENST00000328046.8	37	c.1720	CCDS35217.1	X	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724180	0.15439	.	.	ENSG00000174010	ENST00000328046	T	0.74106	-0.81	5.94	5.94	0.96194	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.18871	0.023	T	0.59700	-0.7405	10	0.05833	T	0.94	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	574	Q96M94	KLH15_HUMAN	K	574	ENSP00000332791:E574K	ENSP00000332791:E574K	E	-	1	0	KLHL15	23916054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.494000	0.84150	0.506000	0.49869	GAG	KLHL15	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	C	XM_040383		24006133	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24006133	C	T	24006133	3	4	160	1	0	0	0	0	1	0	0	0	8391	835	29	1	98	1	KLHL15	23	24006133	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	283289	24006133	131264427	2207	30480										
DCAF8L1	139425	genome.wustl.edu	37	chrX	27997787	27997787	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggttgatgagctctctgtaaCaggtgacgcacgaagaaccg	13	9	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:27997787C>G	ENST00000441525.1	-	1	1779	c.1665G>C	c.(1663-1665)ctG>ctC	p.L555L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	555										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTCTGTAACAGGTGACGCA	0.488																																																	0													164	130	141					X																	27997787		2202	4300	6502	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1665G>C	X.37:g.27997787C>G			B3KXX1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L555	ENST00000441525.1	37	c.1665	CCDS35222.1	X																																																																																			DCAF8L1	-	NULL		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	C	XM_066690		27997787	-1	no_errors	ENST00000441525	ensembl	human	known	70_37	silent	SNP	0.070	G	G	27997787	C	G	27997787	2	3	160	1	0	0	0	0	0	0	0	1	4282	465	17	4		4	DCAF8L1	23	27997787	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	3991654	27997787	127272773	2208	30481										
DMD	1756	genome.wustl.edu	37	chrX	31893427	31893427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtcttcaagctttttttcaaGctgcccaaggtcttttattt	6	9	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:31893427G>A	ENST00000357033.4	-	48	7182	c.6976C>T	c.(6976-6978)Ctt>Ttt	p.L2326F	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.L2322F|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2326			Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTTTTCAAGCTGCCCAAGG	0.353																																																	0													72	59	63					X																	31893427		2201	4300	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6976C>T	X.37:g.31893427G>A	ENSP00000354923:p.Leu2326Phe		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_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,pfam_CAMSAP_CH,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.L2326F	ENST00000357033.4	37	c.6976	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.280|4.280	0.051085|0.051085	0.08243|0.08243	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.|T;T;T	.|0.36520	.|1.25;2.02;2.02	5.34|5.34	0.786|0.786	0.18590|0.18590	.|.	.|.	.|.	.|.	.|.	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.0;0.0	T|T	0.31392|0.31392	-0.9945|-0.9945	5|9	.|0.02654	.|T	.|1	.|.	5.0583|5.0583	0.14544|0.14544	0.3807:0.0:0.4787:0.1407|0.3807:0.0:0.4787:0.1407	.|.	.|2318;2326;2322;985;982	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.|.;DMD_HUMAN;.;.;.	V|F	54|2318;985;982;22;2322;2326;2326;2203	.|ENSP00000350765:L22F;ENSP00000367948:L2322F;ENSP00000354923:L2326F	.|ENSP00000354923:L2326F	A|L	-|-	2|1	0|0	DMD|DMD	31803348|31803348	0.874000|0.874000	0.30092|0.30092	0.966000|0.966000	0.40874|0.40874	0.843000|0.843000	0.47879|0.47879	0.133000|0.133000	0.15912|0.15912	-0.156000|-0.156000	0.11079|0.11079	0.600000|0.600000	0.82982|0.82982	GCT|CTT	DMD	-	pirsf_Dystrophin/utrophin		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		31893427	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.926	A	A	31893427	G	A	31893427	3	1	160	1	0	0	0	0	1	0	0	0	4590	971	34	4	4357	4	DMD	23	31893427	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	3895640	31893427	123377133	2209	30482										
LANCL3	347404	genome.wustl.edu	37	chrX	37431522	37431522	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtgtacgccgtggccacgctCgtataccacgccctgggccg	13	16	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:37431522C>T	ENST00000378619.3	+	1	618	c.399C>T	c.(397-399)ctC>ctT	p.L133L	LANCL3_ENST00000378621.3_Silent_p.L133L|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	133							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						TGGCCACGCTCGTATACCACG	0.736																																																	0													2	2	2					X																	37431522		1387	2638	4025	SO:0001819	synonymous_variant	347404			AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.399C>T	X.37:g.37431522C>T			A6NHE3	Silent	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk	p.L133	ENST00000378619.3	37	c.399	CCDS55398.1	X																																																																																			LANCL3	-	pfam_LANC-like		0.736	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL3	HGNC	protein_coding	OTTHUMT00000080885.1	C	NM_198511		37431522	1	no_errors	ENST00000378619	ensembl	human	known	70_37	silent	SNP	0.864	T	T	37431522	C	T	37431522	2	4	160	1	0	0	0	0	0	0	0	1	8642	871	31	1		1	LANCL3	23	37431522	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5538095	37431522	117839038	2210	30483										
SRPX	8406	genome.wustl.edu	37	chrX	38016209	38016209	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgtgggtgtggacacaatGaggagtctccttttctcata	12	8	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:38016209G>A	ENST00000378533.3	-	8	1135	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Silent_p.L343L|SRPX_ENST00000544439.1_Silent_p.L323L|SRPX_ENST00000343800.6_Silent_p.L330L|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Silent_p.L284L	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	343					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGGACACAATGAGGAGTCTCC	0.537																																																	0													118	92	101					X																	38016209		2202	4300	6502	SO:0001819	synonymous_variant	8406			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1029C>T	X.37:g.38016209G>A			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L343	ENST00000378533.3	37	c.1029	CCDS14245.1	X																																																																																			SRPX	-	NULL		0.537	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	G	NM_006307		38016209	-1	no_errors	ENST00000378533	ensembl	human	known	70_37	silent	SNP	0.989	A	A	38016209	G	A	38016209	2	1	160	1	0	0	0	0	0	0	0	1	15194	1277	45	1		1	SRPX	23	38016209	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	584687	38016209	117254351	2211	30484										
MID1IP1	58526	genome.wustl.edu	37	chrX	38664284	38664284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttggcgccgtgaacaacatgGaccagacggtgatggtgccc	14	11	0	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:38664284G>A	ENST00000336949.6	+	2	1030	c.85G>A	c.(85-87)Gac>Aac	p.D29N	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29N|MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29N	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GAACAACATGGACCAGACGGT	0.612																																																	0													105	70	82					X																	38664284		2202	4300	6502	SO:0001583	missense	58526				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.85G>A	X.37:g.38664284G>A	ENSP00000338706:p.Asp29Asn		D3DWB2	Missense_Mutation	SNP	pfam_Spot_14	p.D29N	ENST00000336949.6	37	c.85	CCDS14249.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380117	0.82682	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.113796	0.56097	D	0.000022	T	0.77974	0.4211	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.80795	-0.1223	9	0.87932	D	0	0.8389	10.8769	0.46917	0.0944:0.0:0.9056:0.0	.	29	Q9NPA3	M1IP1_HUMAN	N	29	.	ENSP00000338706:D29N	D	+	1	0	MID1IP1	38549228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.116000	0.64780	0.529000	0.55759	GAC	MID1IP1	-	pfam_Spot_14		0.612	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1IP1	HGNC	protein_coding	OTTHUMT00000060655.1	G			38664284	1	no_errors	ENST00000336949	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38664284	G	A	38664284	3	1	160	1	0	0	0	0	1	0	0	0	9600	1174	41	1	87	1	MID1IP1	23	38664284	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	648075	38664284	116606276	2212	30485										
BCOR	54880	genome.wustl.edu	37	chrX	39937175	39937175	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccatacaggggggttgctGagagcatgtcgtcttctggg	15	9	2	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:39937175G>C	ENST00000378444.4	-	2	236	c.8C>G	c.(7-9)tCa>tGa	p.S3*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.S3*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.S3*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.S3*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	3					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGGTTGCTGAGAGCATGTC	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													111	87	96					X																	39937175		2202	4300	6502	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.8C>G	X.37:g.39937175G>C	ENSP00000367705:p.Ser3*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S3*	ENST00000378444.4	37	c.8	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.617001	0.97709	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2594	18.4322	0.90630	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	.	S	-	2	0	BCOR	39822119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.292000	0.77174	0.513000	0.50165	TCA	BCOR	-	NULL		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39937175	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	39937175	G	C	39937175	4	2	160	1	0	0	0	0	0	1	0	0	1387	1294	45	1	5315	1	BCOR	23	39937175	Nonsense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1272891	39937175	115333385	2213	30486										
ZNF182	7569	genome.wustl.edu	37	chrX	47842379	47842379	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ccaaaatgggatttttccttCtgccgggcattcttctacct	7	12	3	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:47842379C>T	ENST00000396965.1	-	6	609	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E68K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E87K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATTTTTCCTTCTGCCGGGCAT	0.483																																																	0													104	85	91					X																	47842379		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.259G>A	X.37:g.47842379C>T	ENSP00000380165:p.Glu87Lys		A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E87K	ENST00000396965.1	37	c.259	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	C	5.212	0.224597	0.09916	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06933	3.24;3.24;3.24	4.41	4.41	0.53225	Krueppel-associated box (2);	.	.	.	.	T	0.04998	0.0134	N	0.11154	0.105	0.24072	N	0.995973	B;B;P	0.34522	0.116;0.247;0.455	B;B;B	0.32211	0.014;0.063;0.142	T	0.37731	-0.9693	9	0.31617	T	0.26	.	11.2867	0.49226	0.0:1.0:0.0:0.0	.	68;68;87	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	68;87;87	ENSP00000366142:E68K;ENSP00000380165:E87K;ENSP00000306351:E87K	ENSP00000306351:E87K	E	-	1	0	ZNF182	47727323	0.991000	0.36638	0.657000	0.29651	0.035000	0.12851	1.999000	0.40806	2.434000	0.82447	0.594000	0.82650	GAA	ZNF182	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	C	NM_006962		47842379	-1	no_errors	ENST00000305127	ensembl	human	known	70_37	missense	SNP	0.645	T	T	47842379	C	T	47842379	3	4	160	1	0	0	0	0	1	0	0	0	17780	922	32	1	1668	1	ZNF182	23	47842379	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	7905204	47842379	107428181	2214	30487										
ZNF630	57232	genome.wustl.edu	37	chrX	47917923	47917923	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gtaaagtatacatgctggcaGaatgccttcccacagtcact	8	11	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:47917923G>A	ENST00000409324.3	-	5	2134	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.F622F|ZNF630_ENST00000276054.4_Silent_p.F512F	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CATGCTGGCAGAATGCCTTCC	0.443																																																	0													75	58	64					X																	47917923		2195	4288	6483	SO:0001819	synonymous_variant	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1908C>T	X.37:g.47917923G>A			F8WAG4|Q5H8Z5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F636	ENST00000409324.3	37	c.1908	CCDS35237.2	X																																																																																			ZNF630	-	smart_Znf_C2H2-like		0.443	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	G	NM_001037735		47917923	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	silent	SNP	0.631	A	A	47917923	G	A	47917923	2	1	160	1	0	0	0	0	0	0	0	1	18084	933	33	1		1	ZNF630	23	47917923	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	75544	47917923	107352637	2215	30488										
PQBP1	10084	genome.wustl.edu	37	chrX	48758478	48758478	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctaccagaaccagaggaaGagatcattgccgaggactat	10	9	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48758478G>C	ENST00000376563.1	+	3	279	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	PQBP1_ENST00000247140.4_Missense_Mutation_p.E27Q|PQBP1_ENST00000396763.1_Missense_Mutation_p.E27Q|PQBP1_ENST00000447146.2_Missense_Mutation_p.E27Q|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376548.5_Missense_Mutation_p.E27Q|PQBP1_ENST00000218224.4_Missense_Mutation_p.E27Q|PQBP1_ENST00000376566.4_Missense_Mutation_p.E27Q	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	27					alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACCAGAGGAAGAGATCATTGC	0.542																																																	0													83	55	64					X																	48758478		2202	4300	6502	SO:0001583	missense	10084			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"Sutherland-Haan X-linked mental retardation syndrome", "mental retardation, X-linked 55", "mental retardation, X-linked 2 (non-dysmorphic)"	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.79G>C	X.37:g.48758478G>C	ENSP00000365747:p.Glu27Gln		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E27Q	ENST00000376563.1	37	c.79	CCDS14309.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.656746|4.656746	0.88154|0.88154	.|.	.|.	ENSG00000102103|ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000376548;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648|ENST00000456306	T;D;T;D;T;T;D|.	0.81739|.	-1.48;-1.5;-1.48;-1.5;-1.48;-1.48;-1.53|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76169|0.76169	0.3950|0.3950	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999999|0.999999	D;D;B;D;D|.	0.89917|.	0.968;0.998;0.376;1.0;0.993|.	D;D;B;D;D|.	0.91635|.	0.969;0.937;0.094;0.999;0.979|.	T|T	0.77885|0.77885	-0.2421|-0.2421	10|5	0.62326|.	D|.	0.03|.	-41.775|-41.775	14.5182|14.5182	0.67833|0.67833	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	27;27;27;27;27|.	O60828-5;O60828-2;O60828-4;O60828-3;O60828|.	.;.;.;.;PQBP1_HUMAN|.	Q|N	27|15	ENSP00000365747:E27Q;ENSP00000365750:E27Q;ENSP00000391759:E27Q;ENSP00000247140:E27Q;ENSP00000218224:E27Q;ENSP00000379985:E27Q;ENSP00000414861:E27Q|.	ENSP00000218224:E27Q|.	E|K	+|+	1|3	0|2	PQBP1|PQBP1	48643422|48643422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.275000|8.275000	0.89892|0.89892	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	GAG|AAG	PQBP1	-	NULL		0.542	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	G	NM_001032381.1		48758478	1	no_errors	ENST00000218224	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48758478	G	C	48758478	3	2	160	1	0	0	0	0	1	0	0	0	12444	943	33	1	85	1	PQBP1	23	48758478	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	840555	48758478	106512082	2216	30489										
GRIPAP1	56850	genome.wustl.edu	37	chrX	48844596	48844596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tccccctgccgctgatctctCagctctgccaagctctgtgg	9	17	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48844596C>T	ENST00000376441.1	-	12	919	c.885G>A	c.(883-885)ctG>ctA	p.L295L	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Silent_p.L250L|GRIPAP1_ENST00000376423.4_Silent_p.L242L|GRIPAP1_ENST00000376425.3_Silent_p.L295L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	295						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCTGATCTCTCAGCTCTGCCA	0.582																																																	0													52	36	41					X																	48844596		2203	4298	6501	SO:0001819	synonymous_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.885G>A	X.37:g.48844596C>T			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.L295	ENST00000376441.1	37	c.885	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL		0.582	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	C	NM_207672		48844596	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	silent	SNP	0.887	T	T	48844596	C	T	48844596	2	4	160	1	0	0	0	0	0	0	0	1	6809	813	29	1		1	GRIPAP1	23	48844596	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	86118	48844596	106425964	2217	30490										
WDR45	11152	genome.wustl.edu	37	chrX	48932470	48932470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	cccccagggtccttaaaagtCatcatcatcacagatgtcaa	6	13	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:48932470C>T	ENST00000376372.3	-	11	1256	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	WDR45_ENST00000396681.4_Missense_Mutation_p.D345N|WDR45_ENST00000356463.3_Missense_Mutation_p.D360N|PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000465431.1_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D360N|WDR45_ENST00000473974.1_3'UTR|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000485908.1_Missense_Mutation_p.D324N|WDR45_ENST00000322995.8_Missense_Mutation_p.D370N	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	359					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CCTTAAAAGTCATCATCATCA	0.537																																																	0													78	73	74					X																	48932470		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.1075G>A	X.37:g.48932470C>T	ENSP00000365551:p.Asp359Asn		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D370N	ENST00000376372.3	37	c.1108	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189678	0.57909	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.98	4.98	0.66077	.	0.107337	0.64402	D	0.000009	T	0.75398	0.3844	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.20550	0.045;0.046;0.036;0.003	B;B;B;B	0.26310	0.068;0.019;0.042;0.007	T	0.72257	-0.4346	10	0.49607	T	0.09	-18.8877	10.4057	0.44256	0.0:0.9037:0.0:0.0963	.	370;324;360;359	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	N	359;370;360;324;360;345	ENSP00000365551:D359N;ENSP00000365543:D370N;ENSP00000348848:D360N;ENSP00000419897:D324N;ENSP00000365546:D360N;ENSP00000379913:D345N	ENSP00000365543:D370N	D	-	1	0	WDR45	48819414	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.250000	0.58772	2.392000	0.81423	0.600000	0.82982	GAC	WDR45	-	NULL		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48932470	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48932470	C	T	48932470	3	4	160	1	0	0	0	0	1	0	0	0	17328	826	29	1	11	1	WDR45	23	48932470	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	87874	48932470	106338090	2218	30491										
DGKK	139189	genome.wustl.edu	37	chrX	50213446	50213446	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ttctggggtcggttctgtgtAcagttctgtggctgattctg	14	7	4	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:50213446A>G	ENST00000376025.2	-	0	291							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggTTCTGTGTACAGTTCTGTG	0.647																																																	0													72	84	80					X																	50213446		1913	4108	6021			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213446A>G			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.647	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	A	NM_001013742		50213446	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.001	G	G	50213446	A	G	50213446	1	3	160	0	1	0	0	0	0	0	0	0	4482	391	14	5		5	DGKK	23	50213446	RNA	SNP	A	TCGA-JW-A5VL-01A-11D-A28B-09	1280976	50213446	105057114	2219	30492										
BMP15	9210	genome.wustl.edu	37	chrX	50653862	50653862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aacacagggcccaaatggcaGaaggagggcagtcctctatt	12	10	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:50653862G>C	ENST00000252677.3	+	1	79	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	27					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCAAATGGCAGAAGGAGGGCA	0.502																																																	0													51	44	46					X																	50653862		2203	4299	6502	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.79G>C	X.37:g.50653862G>C	ENSP00000252677:p.Glu27Gln		Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.E27Q	ENST00000252677.3	37	c.79	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.596181	0.00857	.	.	ENSG00000130385	ENST00000252677	D	0.82255	-1.59	4.57	-1.92	0.07618	.	1.489630	0.03651	N	0.240955	T	0.60183	0.2249	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.50684	-0.8799	10	0.13470	T	0.59	.	4.5564	0.12138	0.343:0.355:0.3021:0.0	.	27	O95972	BMP15_HUMAN	Q	27	ENSP00000252677:E27Q	ENSP00000252677:E27Q	E	+	1	0	BMP15	50670602	0.054000	0.20591	0.000000	0.03702	0.012000	0.07955	0.155000	0.16362	-0.488000	0.06726	-0.296000	0.09543	GAA	BMP15	-	NULL		0.502	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	G	NM_005448		50653862	1	no_errors	ENST00000252677	ensembl	human	known	70_37	missense	SNP	0.000	C	C	50653862	G	C	50653862	3	2	160	1	0	0	0	0	1	0	0	0	1459	943	33	1	81	1	BMP15	23	50653862	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	440416	50653862	104616698	2220	30493										
GSPT2	23708	genome.wustl.edu	37	chrX	51488154	51488154	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aagttcttggaatactttctGatgatactgaaactgatttt	7	5	2	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:51488154G>A	ENST00000340438.4	+	1	1674	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	478					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AATACTTTCTGATGATACTGA	0.423																																																	0													63	55	58					X																	51488154		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1432G>A	X.37:g.51488154G>A	ENSP00000341247:p.Asp478Asn		Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.D478N	ENST00000340438.4	37	c.1432	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538504	0.65085	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.63096	-0.02	4.54	4.54	0.55810	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.34521	1.04	0.80722	D	1	P	0.48694	0.914	P	0.58454	0.839	T	0.68066	-0.5507	10	0.56958	D	0.05	-27.0569	14.1724	0.65517	0.0:0.0:1.0:0.0	.	478	Q8IYD1	ERF3B_HUMAN	N	478;395	ENSP00000341247:D478N	ENSP00000341247:D478N	D	+	1	0	GSPT2	51504894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.141000	0.77330	2.520000	0.84964	0.590000	0.80494	GAT	GSPT2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.423	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	G			51488154	1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51488154	G	A	51488154	3	1	160	1	0	0	0	0	1	0	0	0	6847	1290	45	1	1434	1	GSPT2	23	51488154	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	834292	51488154	103782406	2221	30494										
TSPYL2	64061	genome.wustl.edu	37	chrX	53113756	53113756	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caccccagaatttcaattttGatcaaccgacgtgatgaaga	7	10	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:53113756G>C	ENST00000375442.4	+	2	969	c.837G>C	c.(835-837)ttG>ttC	p.L279F		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	279					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TTTCAATTTTGATCAACCGAC	0.483																																																	0													155	133	140					X																	53113756		2203	4300	6503	SO:0001583	missense	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.837G>C	X.37:g.53113756G>C	ENSP00000364591:p.Leu279Phe		O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.L279F	ENST00000375442.4	37	c.837	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665931	0.47677	.	.	ENSG00000184205	ENST00000375442	T	0.27402	1.67	3.74	3.74	0.42951	.	0.529128	0.14315	N	0.327452	T	0.23094	0.0558	N	0.25992	0.78	0.28766	N	0.900619	B;B	0.29232	0.238;0.238	B;B	0.28011	0.085;0.085	T	0.13683	-1.0500	10	0.49607	T	0.09	-29.5392	12.6499	0.56755	0.0:0.0:1.0:0.0	.	279;279	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	F	279	ENSP00000364591:L279F	ENSP00000364591:L279F	L	+	3	2	TSPYL2	53130481	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.371000	0.44248	2.138000	0.66242	0.508000	0.49915	TTG	TSPYL2	-	pfam_NAP_family		0.483	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	G	NM_022117		53113756	1	no_errors	ENST00000375442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53113756	G	C	53113756	3	2	160	1	0	0	0	0	1	0	0	0	16691	1281	45	1	843	1	TSPYL2	23	53113756	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	1625602	53113756	102156804	2222	30495										
HUWE1	10075	genome.wustl.edu	37	chrX	53579708	53579708	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctgcctgctctgggctgctCagaactgccagctgctgaag	13	13	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:53579708C>T	ENST00000342160.3	-	61	9098	c.8641G>A	c.(8641-8643)Gag>Aag	p.E2881K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2881K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2881					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGGCTGCTCAGAACTGCCA	0.602																																																	0													47	43	45					X																	53579708		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8641G>A	X.37:g.53579708C>T	ENSP00000340648:p.Glu2881Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2881K	ENST00000342160.3	37	c.8641	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434899	0.43224	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37411	1.2;1.2	5.88	4.99	0.66335	.	0.479240	0.21908	N	0.067348	T	0.24890	0.0604	N	0.19112	0.55	0.38629	D	0.951334	B;B	0.25609	0.079;0.13	B;B	0.19391	0.011;0.025	T	0.09037	-1.0693	10	0.33940	T	0.23	.	14.3196	0.66476	0.1486:0.8514:0.0:0.0	.	2881;2881	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	2881	ENSP00000340648:E2881K;ENSP00000262854:E2881K	ENSP00000262854:E2881K	E	-	1	0	HUWE1	53596433	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.595000	0.54016	2.489000	0.83994	0.600000	0.82982	GAG	HUWE1	-	NULL		0.602	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53579708	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53579708	C	T	53579708	3	4	160	1	0	0	0	0	1	0	0	0	7481	835	29	1	4575	1	HUWE1	23	53579708	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	465952	53579708	101690852	2223	30496										
HUWE1	10075	genome.wustl.edu	37	chrX	53591561	53591561	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctcttgtgaactgagcacctCaggctgcccagcaatcacca	8	15	3	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:53591561C>G	ENST00000342160.3	-	50	7460	c.7003G>C	c.(7003-7005)Gag>Cag	p.E2335Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2335Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2335	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAGCACCTCAGGCTGCCCA	0.572																																																	0													138	83	102					X																	53591561		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7003G>C	X.37:g.53591561C>G	ENSP00000340648:p.Glu2335Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2335Q	ENST00000342160.3	37	c.7003	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.277084|1.277084	0.23307|0.23307	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37058|.	1.22;1.22|.	5.28|5.28	4.36|4.36	0.52297|0.52297	.|.	0.063358|.	0.64402|.	D|.	0.000012|.	T|.	0.46229|.	0.1382|.	N|N	0.12182|0.12182	0.205|0.205	0.42735|0.42735	D|D	0.993727|0.993727	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.09377|.	0.002;0.004|.	T|.	0.42481|.	-0.9449|.	10|.	0.54805|.	T|.	0.06|.	.|.	15.4199|15.4199	0.75003|0.75003	0.0:0.8489:0.1511:0.0|0.0:0.8489:0.1511:0.0	.|.	2335;2335|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Q|S	2335|1368	ENSP00000340648:E2335Q;ENSP00000262854:E2335Q|.	ENSP00000262854:E2335Q|.	E|X	-|-	1|2	0|2	HUWE1|HUWE1	53608286|53608286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.286000|5.286000	0.65639|0.65639	2.185000|2.185000	0.69588|0.69588	0.513000|0.513000	0.50165|0.50165	GAG|TGA	HUWE1	-	NULL		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53591561	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53591561	C	G	53591561	3	3	160	1	0	0	0	0	1	0	0	0	7481	835	29	1	6257	1	HUWE1	23	53591561	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	11853	53591561	101678999	2224	30497										
WNK3	65267	genome.wustl.edu	37	chrX	54228426	54228426	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tgggtataaacaacttacttCagatactttattccagtttt	5	7	1	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:54228426C>T	ENST00000375159.2	-	22	5070	c.5071G>A	c.(5071-5073)Gaa>Aaa	p.E1691K	WNK3_ENST00000375169.3_Missense_Mutation_p.E1634K|WNK3_ENST00000354646.2_Missense_Mutation_p.E1691K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1691					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAACTTACTTCAGATACTTTA	0.333																																																	0													153	127	136					X																	54228426		2202	4300	6502	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.5071G>A	X.37:g.54228426C>T	ENSP00000364301:p.Glu1691Lys		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1691K	ENST00000375159.2	37	c.5071	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425622	0.62733	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70986	-0.52;-0.53;-0.53	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000025	T	0.80644	0.4662	M	0.72894	2.215	0.45914	D	0.998751	D;D	0.71674	0.998;0.996	D;P	0.80764	0.994;0.874	T	0.77335	-0.2626	10	0.07482	T	0.82	-14.6843	16.1428	0.81539	0.0:1.0:0.0:0.0	.	1634;1691	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1634;1691;1691	ENSP00000364312:E1634K;ENSP00000346667:E1691K;ENSP00000364301:E1691K	ENSP00000346667:E1691K	E	-	1	0	WNK3	54245151	1.000000	0.71417	0.985000	0.45067	0.783000	0.44284	6.249000	0.72427	2.061000	0.61500	0.600000	0.82982	GAA	WNK3	-	NULL		0.333	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	C	NM_020922		54228426	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54228426	C	T	54228426	3	4	160	1	0	0	0	0	1	0	0	0	17410	835	29	1	339	1	WNK3	23	54228426	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	636865	54228426	101042134	2225	30498										
ARHGEF9	23229	genome.wustl.edu	37	chrX	62885882	62885882	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gatcagctccgagctcctgtCtaggatgtcctcgccctggg	12	14	2	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:62885882C>G	ENST00000253401.6	-	7	1740	c.940G>C	c.(940-942)Gac>Cac	p.D314H	ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D261H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D293H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D212H|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D312H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	314					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAGCTCCTGTCTAGGATGTCC	0.597																																																	0													117	92	101					X																	62885882		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.940G>C	X.37:g.62885882C>G	ENSP00000253401:p.Asp314His		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D314H	ENST00000253401.6	37	c.940	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948240	0.73787	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.08	5.08	0.68730	Pleckstrin homology-type (1);	0.053186	0.85682	D	0.000000	D	0.87297	0.6142	L	0.52573	1.65	0.80722	D	1	D;D;D	0.59767	0.986;0.957;0.957	P;B;P	0.49012	0.598;0.406;0.598	D	0.87505	0.2436	10	0.44086	T	0.13	.	16.1104	0.81259	0.0:1.0:0.0:0.0	.	261;312;314	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	H	314;312;261;212;293	ENSP00000253401:D314H;ENSP00000364012:D312H;ENSP00000399994:D261H;ENSP00000364004:D212H;ENSP00000364006:D293H	ENSP00000253401:D314H	D	-	1	0	ARHGEF9	62802607	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.296000	0.78790	2.103000	0.63969	0.600000	0.82982	GAC	ARHGEF9	-	NULL		0.597	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	C			62885882	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62885882	C	G	62885882	3	3	160	1	0	0	0	0	1	0	0	0	912	913	32	1	626	1	ARHGEF9	23	62885882	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	8657456	62885882	92384678	2226	30499										
KIF4A	24137	genome.wustl.edu	37	chrX	69625690	69625690	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ggaaataggatgaagaacttGagaaaatgcgagaagtgtgt	14	2	0	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:69625690G>C	ENST00000374403.3	+	26	2993	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	KIF4A_ENST00000374388.3_Missense_Mutation_p.E971Q	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	971	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGAAGAACTTGAGAAAATGCG	0.408																																																	0													88	75	79					X																	69625690		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2911G>C	X.37:g.69625690G>C	ENSP00000363524:p.Glu971Gln		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E971Q	ENST00000374403.3	37	c.2911	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768747	0.31320	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70749	-0.49;-0.51	4.45	3.48	0.39840	.	0.233674	0.29579	N	0.011747	T	0.56775	0.2008	L	0.42245	1.32	0.38725	D	0.953538	B	0.18013	0.025	B	0.10450	0.005	T	0.49437	-0.8940	9	.	.	.	.	6.2921	0.21065	0.1922:0.0:0.8078:0.0	.	971	O95239	KIF4A_HUMAN	Q	971;971;273	ENSP00000363509:E971Q;ENSP00000363524:E971Q	.	E	+	1	0	KIF4A	69542415	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.787000	0.55439	0.685000	0.31468	0.600000	0.82982	GAG	KIF4A	-	NULL		0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69625690	1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69625690	G	C	69625690	3	2	160	1	0	0	0	0	1	0	0	0	8323	1291	45	1	3009	1	KIF4A	23	69625690	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	6739808	69625690	85644870	2227	30500										
GJB1	2705	genome.wustl.edu	37	chrX	70443861	70443861	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tggctcaccagcaacacataGagaagaaaatgctacggctt	9	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:70443861G>C	ENST00000374022.3	+	2	399	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	GJB1_ENST00000361726.6_Missense_Mutation_p.E102Q|GJB1_ENST00000374029.1_Missense_Mutation_p.E102Q	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	102			E -> G (in CMTX1; mild phenotype; increased sensitivity to acidification- induced closure). {ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:14627639, ECO:0000269|PubMed:8004109, ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9361298}.|Missing (in CMTX1). {ECO:0000269|PubMed:12707076}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCAACACATAGAGAAGAAAAT	0.587																																																	0			GRCh37	CD031051|CM973201	GJB1	D|M							100	71	81					X																	70443861		2203	4300	6503	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.304G>C	X.37:g.70443861G>C	ENSP00000363134:p.Glu102Gln		B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.E102Q	ENST00000374022.3	37	c.304	CCDS14408.1	X	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742508	0.30865	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.99150	-5.49;-5.49;-5.49	4.67	3.81	0.43845	Connexin, N-terminal (1);	0.188324	0.49305	D	0.000151	D	0.98343	0.9450	L	0.56280	1.765	0.50632	D	0.999881	P	0.47910	0.902	P	0.52343	0.696	D	0.98068	1.0397	10	0.72032	D	0.01	.	12.2486	0.54585	0.0842:0.0:0.9158:0.0	.	102	P08034	CXB1_HUMAN	Q	102	ENSP00000363141:E102Q;ENSP00000363134:E102Q;ENSP00000354900:E102Q	ENSP00000354900:E102Q	E	+	1	0	GJB1	70360586	1.000000	0.71417	0.844000	0.33320	0.085000	0.17905	6.556000	0.73932	0.995000	0.38917	-0.309000	0.09137	GAG	GJB1	-	pfam_Connexin_N		0.587	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	HGNC	protein_coding	OTTHUMT00000057133.1	G	NM_000166		70443861	1	no_errors	ENST00000361726	ensembl	human	known	70_37	missense	SNP	0.995	C	C	70443861	G	C	70443861	3	2	160	1	0	0	0	0	1	0	0	0	6426	943	33	1	306	1	GJB1	23	70443861	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	818171	70443861	84826699	2228	30501										
PCDH19	57526	genome.wustl.edu	37	chrX	99663151	99663151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atcgtaagcgctgtccagcgGgatgcgcgtgccagggctgg	17	11	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:99663151G>T	ENST00000373034.4	-	1	2120	c.445C>A	c.(445-447)Ccg>Acg	p.P149T	PCDH19_ENST00000255531.7_Missense_Mutation_p.P149T|PCDH19_ENST00000420881.2_Missense_Mutation_p.P149T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGTCCAGCGGGATGCGCGTG	0.612																																																	0													83	82	82					X																	99663151		2124	4218	6342	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.445C>A	X.37:g.99663151G>T	ENSP00000362125:p.Pro149Thr		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P149T	ENST00000373034.4	37	c.445	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907983	0.72868	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.49139	0.79;0.79;0.79	5.7	5.7	0.88788	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67597	-0.5630	10	0.87932	D	0	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	149;149;149	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	T	149	ENSP00000400327:P149T;ENSP00000362125:P149T;ENSP00000255531:P149T	ENSP00000255531:P149T	P	-	1	0	PCDH19	99549807	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.807000	0.99171	2.385000	0.81259	0.544000	0.68410	CCG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99663151	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99663151	G	T	99663151	3	4	160	1	0	0	0	0	1	0	0	0	11538	1232	43	4	3025	4	PCDH19	23	99663151	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	29219290	99663151	55607409	2229	30502										
ARMCX3	51566	genome.wustl.edu	37	chrX	100880767	100880767	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	aaacttcaggttctgaaactCcttttgaatttggctgaaaa	7	7	2	3			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:100880767C>G	ENST00000341189.4	+	5	1664	c.798C>G	c.(796-798)ctC>ctG	p.L266L	ARMCX3_ENST00000471229.2_Silent_p.L266L|ARMCX3_ENST00000537169.1_Silent_p.L266L|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	266					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TTCTGAAACTCCTTTTGAATT	0.408																																																	0													62	57	59					X																	100880767		2203	4300	6503	SO:0001819	synonymous_variant	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.798C>G	X.37:g.100880767C>G			Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.L266	ENST00000341189.4	37	c.798	CCDS14489.1	X																																																																																			ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.408	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	C	NM_016607		100880767	1	no_errors	ENST00000341189	ensembl	human	known	70_37	silent	SNP	1.000	G	G	100880767	C	G	100880767	2	3	160	1	0	0	0	0	0	0	0	1	962	842	30	1		1	ARMCX3	23	100880767	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	1217616	100880767	54389793	2230	30503										
ARMCX3	51566	genome.wustl.edu	37	chrX	100880829	100880829	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gctcagggcccaagtaccatCttcactgggctccctcttta	8	15	4	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:100880829C>T	ENST00000341189.4	+	5	1726	c.860C>T	c.(859-861)tCt>tTt	p.S287F	ARMCX3_ENST00000471229.2_Missense_Mutation_p.S287F|ARMCX3_ENST00000537169.1_Missense_Mutation_p.S287F|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	287					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CAAGTACCATCTTCACTGGGC	0.393																																																	0													54	51	52					X																	100880829		2202	4298	6500	SO:0001583	missense	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.860C>T	X.37:g.100880829C>T	ENSP00000340672:p.Ser287Phe		Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.S287F	ENST00000341189.4	37	c.860	CCDS14489.1	X	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860799	0.51482	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.52983	0.64;0.64	4.94	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.242407	0.42964	D	0.000626	T	0.59810	0.2221	L	0.47716	1.5	0.39619	D	0.969998	D	0.71674	0.998	D	0.76575	0.988	T	0.59456	-0.7451	9	.	.	.	-13.6831	13.0397	0.58891	0.0:1.0:0.0:0.0	.	287	Q9UH62	ARMX3_HUMAN	F	287	ENSP00000340672:S287F;ENSP00000439032:S287F	.	S	+	2	0	ARMCX3	100767485	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.791000	0.38744	2.381000	0.81170	0.600000	0.82982	TCT	ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.393	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	C	NM_016607		100880829	1	no_errors	ENST00000341189	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100880829	C	T	100880829	3	4	160	1	0	0	0	0	1	0	0	0	962	913	32	1	862	1	ARMCX3	23	100880829	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	62	100880829	54389731	2231	30504										
CXorf57	55086	genome.wustl.edu	37	chrX	105855822	105855822	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agaaactcccttcagaaataGagcgcaccaggagaaaccag	9	11	1	4			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:105855822G>T	ENST00000372548.4	+	1	621	c.512G>T	c.(511-513)aGa>aTa	p.R171I	CXorf57_ENST00000372544.2_Missense_Mutation_p.R171I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	171							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCAGAAATAGAGCGCACCAG	0.468																																																	0													90	98	95					X																	105855822		2203	4300	6503	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.512G>T	X.37:g.105855822G>T	ENSP00000361628:p.Arg171Ile		H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.R171I	ENST00000372548.4	37	c.512	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228713	0.22542	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.79554	-1.28;-1.28	3.5	2.63	0.31362	Nucleic acid-binding, OB-fold-like (1);	0.431284	0.23454	N	0.048018	T	0.68577	0.3016	L	0.44542	1.39	0.24709	N	0.993217	B;B;B	0.32467	0.189;0.372;0.255	B;B;B	0.32533	0.147;0.147;0.048	T	0.58171	-0.7683	10	0.38643	T	0.18	-0.8318	4.211	0.10512	0.1359:0.236:0.6281:0.0	.	171;171;171	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	171	ENSP00000361623:R171I;ENSP00000361628:R171I	ENSP00000361623:R171I	R	+	2	0	CXorf57	105742478	0.009000	0.17119	0.484000	0.27391	0.810000	0.45777	1.336000	0.33850	0.840000	0.34995	0.594000	0.82650	AGA	CXorf57	-	superfamily_NA-bd_OB-fold-like		0.468	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	G	NM_018015		105855822	1	no_errors	ENST00000372548	ensembl	human	known	70_37	missense	SNP	0.197	T	T	105855822	G	T	105855822	3	4	160	1	0	0	0	0	1	0	0	0	4118	942	33	3	514	3	CXorf57	23	105855822	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	4974993	105855822	49414738	2232	30505										
DOCK11	139818	genome.wustl.edu	37	chrX	117731498	117731498	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	caggctacttgaatctgaatGatgcagaatcaagaagggta	11	6	2	5			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:117731498G>A	ENST00000276202.7	+	21	2431	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	DOCK11_ENST00000276204.6_Missense_Mutation_p.D790N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	790	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAATCTGAATGATGCAGAATC	0.403																																																	0													94	84	87					X																	117731498		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2368G>A	X.37:g.117731498G>A	ENSP00000276202:p.Asp790Asn		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D790N	ENST00000276202.7	37	c.2368	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555706	0.65425	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.14144	2.53;2.53	5.47	5.47	0.80525	.	0.263915	0.43260	D	0.000589	T	0.13628	0.0330	L	0.35341	1.055	0.51767	D	0.999939	B;B	0.12630	0.006;0.003	B;B	0.18263	0.021;0.021	T	0.05178	-1.0901	10	0.34782	T	0.22	-5.7909	17.4493	0.87587	0.0:0.0:1.0:0.0	.	790;790	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	790	ENSP00000276204:D790N;ENSP00000276202:D790N	ENSP00000276202:D790N	D	+	1	0	DOCK11	117615526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.307000	0.51888	2.422000	0.82143	0.600000	0.82982	GAT	DOCK11	-	NULL		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117731498	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117731498	G	A	117731498	3	1	160	1	0	0	0	0	1	0	0	0	4696	1290	45	1	2450	1	DOCK11	23	117731498	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11875676	117731498	37539062	2233	30506										
KIAA1210	57481	genome.wustl.edu	37	chrX	118223212	118223212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agctctggcttctgtcttctCagctccagaagctgcatctt	8	13	5	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:118223212C>G	ENST00000402510.2	-	11	1980	c.1981G>C	c.(1981-1983)Gag>Cag	p.E661Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	661										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCTGTCTTCTCAGCTCCAGAA	0.488																																																	0													75	66	69					X																	118223212		1987	4144	6131	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1981G>C	X.37:g.118223212C>G	ENSP00000384670:p.Glu661Gln		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.E661Q	ENST00000402510.2	37	c.1981	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.432075|2.432075	0.43122|0.43122	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.11385|.	2.78|.	5.1|5.1	-9.46|-9.46	0.00597|0.00597	.|.	.|.	.|.	.|.	.|.	T|.	0.26919|.	0.0659|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.18968|.	0.032|.	B|.	0.23419|.	0.046|.	T|.	0.33317|.	-0.9873|.	9|.	0.38643|.	T|.	0.18|.	.|.	13.0001|13.0001	0.58670|0.58670	0.0:0.1094:0.0954:0.7953|0.0:0.1094:0.0954:0.7953	.|.	661|.	Q9ULL0|.	K1210_HUMAN|.	Q|S	661|67	ENSP00000384670:E661Q|.	ENSP00000384670:E661Q|.	E|X	-|-	1|2	0|2	RP13-347D8.6|KIAA1210	118107240|118107240	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-4.417000|-4.417000	0.00237|0.00237	-2.068000|-2.068000	0.00884|0.00884	-0.182000|-0.182000	0.12963|0.12963	GAG|TGA	KIAA1210	-	NULL		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118223212	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.000	G	G	118223212	C	G	118223212	3	3	160	1	0	0	0	0	1	0	0	0	8234	835	29	1	3164	1	KIAA1210	23	118223212	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	491714	118223212	37047348	2234	30507										
ODZ1	10178	genome.wustl.edu	37	chrX	123630972	123630972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gccagaagctaaggcgacagGagcaaagagtttgttgttgt	14	6	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:123630972G>C	ENST00000371130.3	-	20	3652	c.3589C>G	c.(3589-3591)Cct>Gct	p.P1197A	TENM1_ENST00000422452.2_Missense_Mutation_p.P1197A|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1197					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P1199S(1)									AAGGCGACAGGAGCAAAGAGT	0.488																																																	1	Substitution - Missense(1)	skin(1)											122	110	114					X																	123630972		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3589C>G	X.37:g.123630972G>C	ENSP00000360171:p.Pro1197Ala		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.P1197A	ENST00000371130.3	37	c.3589	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514708	0.64634	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.92149	-2.98;-2.98	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.82056	2.57	0.80722	D	1	B;P;D	0.54964	0.297;0.539;0.969	B;B;P	0.53861	0.129;0.314;0.736	D	0.95626	0.8685	10	0.87932	D	0	.	18.3127	0.90206	0.0:0.0:1.0:0.0	.	1196;1197;1197	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	1197	ENSP00000360171:P1197A;ENSP00000403954:P1197A	ENSP00000360171:P1197A	P	-	1	0	ODZ1	123458653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.263000	0.75096	0.600000	0.82982	CCT	TENM1	-	NULL		0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123630972	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123630972	G	C	123630972	3	2	160	1	0	0	0	0	1	0	0	0	10858	1174	41	1	4661	1	ODZ1	23	123630972	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	5407760	123630972	31639588	2235	30508										
XPNPEP2	7512	genome.wustl.edu	37	chrX	128885728	128885728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	attctcttcccagggctcttCaaccttcgagccagtgacat	7	14	3	1			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:128885728C>G	ENST00000371106.3	+	9	939	c.747C>G	c.(745-747)ttC>ttG	p.F249L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	249						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGGCTCTTCAACCTTCGAG	0.433																																																	0													197	201	200					X																	128885728		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.747C>G	X.37:g.128885728C>G	ENSP00000360147:p.Phe249Leu		A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.F249L	ENST00000371106.3	37	c.747	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131284	0.56828	.	.	ENSG00000122121	ENST00000371106	T	0.72394	-0.65	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	L	0.39898	1.24	0.44946	D	0.997964	D	0.64830	0.994	P	0.58970	0.849	T	0.69847	-0.5034	10	0.21540	T	0.41	-26.912	15.0967	0.72242	0.0:1.0:0.0:0.0	.	249	O43895	XPP2_HUMAN	L	249	ENSP00000360147:F249L	ENSP00000360147:F249L	F	+	3	2	XPNPEP2	128713409	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.625000	0.37029	2.152000	0.67230	0.436000	0.28706	TTC	XPNPEP2	-	NULL		0.433	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	C	NM_003399		128885728	1	no_errors	ENST00000371106	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128885728	C	G	128885728	3	3	160	1	0	0	0	0	1	0	0	0	17474	825	29	1	781	1	XPNPEP2	23	128885728	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	5254756	128885728	26384832	2236	30509										
UTP14A	10813	genome.wustl.edu	37	chrX	129055461	129055461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	gagaagaaagaccagtggcaGaagaagaaattttgttgaga	13	3	0	7			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:129055461G>C	ENST00000394422.3	+	11	1274	c.1246G>C	c.(1246-1248)Gaa>Caa	p.E416Q	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E364Q|UTP14A_ENST00000371051.5_Missense_Mutation_p.E362Q|UTP14A_ENST00000371042.3_Missense_Mutation_p.E248Q|UTP14A_ENST00000498179.1_3'UTR	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	416					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACCAGTGGCAGAAGAAGAAAT	0.488																																																	0													60	56	57					X																	129055461		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1246G>C	X.37:g.129055461G>C	ENSP00000377944:p.Glu416Gln		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E416Q	ENST00000394422.3	37	c.1246	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727138	0.48833	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.88	4.13	0.48395	.	0.272968	0.40144	N	0.001174	T	0.40347	0.1113	M	0.86953	2.85	0.09310	N	0.999996	D;P;P;P	0.54601	0.967;0.954;0.954;0.954	P;P;P;P	0.54590	0.642;0.653;0.653;0.756	T	0.34551	-0.9824	10	0.31617	T	0.26	-6.5281	9.8133	0.40838	0.2284:0.0:0.7716:0.0	.	362;364;364;416	F8WD00;E9PEL7;B4DQ08;Q9BVJ6	.;.;.;UT14A_HUMAN	Q	364;416;362;248;248	ENSP00000388669:E364Q;ENSP00000377944:E416Q;ENSP00000360090:E362Q;ENSP00000413187:E248Q;ENSP00000360081:E248Q	ENSP00000360081:E248Q	E	+	1	0	UTP14A	128883142	0.056000	0.20664	0.002000	0.10522	0.036000	0.12997	2.036000	0.41165	0.634000	0.30469	0.544000	0.68410	GAA	UTP14A	-	pfam_SSU_processome_Utp14		0.488	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129055461	1	no_errors	ENST00000394422	ensembl	human	known	70_37	missense	SNP	0.023	C	C	129055461	G	C	129055461	3	2	160	1	0	0	0	0	1	0	0	0	17126	943	33	1	1288	1	UTP14A	23	129055461	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	169733	129055461	26215099	2237	30510										
BCORL1	63035	genome.wustl.edu	37	chrX	129173217	129173217	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tactcgggtcagacagccatGaagctggccagcagcgacac	12	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:129173217G>A	ENST00000218147.7	+	10	4775	c.4578G>A	c.(4576-4578)atG>atA	p.M1526I	BCORL1_ENST00000540052.1_Missense_Mutation_p.M1526I|BCORL1_ENST00000303743.5_Missense_Mutation_p.M1600I|BCORL1_ENST00000359304.2_Missense_Mutation_p.M1396I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1526					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGACAGCCATGAAGCTGGCCA	0.557																																																	0													115	76	90					X																	129173217		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4578G>A	X.37:g.129173217G>A	ENSP00000218147:p.Met1526Ile		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1600I	ENST00000218147.7	37	c.4800	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080157	0.55753	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.47	5.47	0.80525	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.49338	0.1551	N	0.03115	-0.41	0.42198	D	0.991753	B;B	0.33841	0.428;0.025	B;B	0.36030	0.216;0.089	T	0.57866	-0.7737	9	0.51188	T	0.08	-13.8462	18.4786	0.90802	0.0:0.0:1.0:0.0	.	1600;1526	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	I	1526;1600;1396;1526;1200	ENSP00000218147:M1526I;ENSP00000307541:M1600I;ENSP00000352253:M1396I;ENSP00000437775:M1526I;ENSP00000399483:M1200I	ENSP00000218147:M1526I	M	+	3	0	BCORL1	129000898	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.784000	0.62411	2.305000	0.77605	0.529000	0.55759	ATG	BCORL1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.557	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946		129173217	1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129173217	G	A	129173217	3	1	160	1	0	0	0	0	1	0	0	0	1388	1290	45	1	4838	1	BCORL1	23	129173217	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	117756	129173217	26097343	2238	30511										
MAGEC1	9947	genome.wustl.edu	37	chrX	140994802	140994802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agattgttccaagtcttcctGagtgggaggactccctgtct	11	10	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:140994802G>C	ENST00000285879.4	+	4	1898	c.1612G>C	c.(1612-1614)Gag>Cag	p.E538Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	538										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTCTTCCTGAGTGGGAGGA	0.542										HNSCC(15;0.026)																																							0													149	157	154					X																	140994802		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1612G>C	X.37:g.140994802G>C	ENSP00000285879:p.Glu538Gln		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E538Q	ENST00000285879.4	37	c.1612	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	9.588	1.125392	0.20959	.	.	ENSG00000155495	ENST00000285879	T	0.01887	4.58	0.899	0.899	0.19271	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.80722	D	1	B	0.20459	0.045	B	0.15484	0.013	T	0.54629	-0.8265	9	0.87932	D	0	.	5.4496	0.16556	0.0:0.0:1.0:0.0	.	538	O60732	MAGC1_HUMAN	Q	538	ENSP00000285879:E538Q	ENSP00000285879:E538Q	E	+	1	0	MAGEC1	140822468	0.072000	0.21174	0.023000	0.16930	0.023000	0.10783	0.349000	0.20055	0.149000	0.19098	0.151000	0.16131	GAG	MAGEC1	-	NULL		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	G	NM_005462		140994802	1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.955	C	C	140994802	G	C	140994802	3	2	160	1	0	0	0	0	1	0	0	0	9203	1291	45	1	1618	1	MAGEC1	23	140994802	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	11821585	140994802	14275758	2239	30512										
CXorf40A	91966	genome.wustl.edu	37	chrX	148627246	148627246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	taaatggaatcaagactgtgGagacgcgctggcgtcccctg	13	10	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:148627246G>A	ENST00000441248.1	+	3	1657	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000423540.2_Missense_Mutation_p.E24K|CXorf40A_ENST00000393985.3_Missense_Mutation_p.E24K|CXorf40A_ENST00000422892.2_Missense_Mutation_p.E24K|CXorf40A_ENST00000423421.1_Missense_Mutation_p.E24K|CXorf40A_ENST00000359293.5_Missense_Mutation_p.E24K|CXorf40A_ENST00000450602.2_Missense_Mutation_p.E24K|CXorf40A_ENST00000514208.1_Missense_Mutation_p.E24K|CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000434353.2_Missense_Mutation_p.E24K			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	24										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGACTGTGGAGACGCGCTG	0.612																																																	0													50	38	42					X																	148627246		2202	4298	6500	SO:0001583	missense	91966			AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"endothelial-overexpressed lipopolysaccharide-associated factor 1"		"chromosome X open reading frame 40"	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.70G>A	X.37:g.148627246G>A	ENSP00000423099:p.Glu24Lys		A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	superfamily_PUA-like_domain	p.E24K	ENST00000441248.1	37	c.70	CCDS14687.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993446	0.74703	.	.	ENSG00000197620	ENST00000431132;ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	3.39	3.39	0.38822	PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	M	0.83953	2.67	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.87578	0.998;0.996;0.99	D	0.96273	0.9200	10	0.87932	D	0	.	13.5531	0.61745	0.0:0.0:1.0:0.0	.	24;24;24	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	K	24	ENSP00000427540:E24K;ENSP00000423099:E24K;ENSP00000421745:E24K;ENSP00000422512:E24K;ENSP00000425520:E24K;ENSP00000423160:E24K;ENSP00000423708:E24K;ENSP00000422312:E24K;ENSP00000420882:E24K	ENSP00000420882:E24K	E	+	1	0	CXorf40A	148435151	1.000000	0.71417	0.180000	0.23079	0.574000	0.36063	7.299000	0.78831	1.698000	0.51180	0.455000	0.32223	GAG	CXorf40A	-	superfamily_PUA-like_domain		0.612	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40A	HGNC	protein_coding	OTTHUMT00000058699.3	G	NM_178124		148627246	1	no_errors	ENST00000359293	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148627246	G	A	148627246	3	1	160	1	0	0	0	0	1	0	0	0	4113	1175	41	1	72	1	CXorf40A	23	148627246	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	7632444	148627246	6643314	2240	30513										
ATP2B3	492	genome.wustl.edu	37	chrX	152807332	152807332	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	atccggaacgggcagctcctCcaggtccccgtggctgcgct	13	16	0	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:152807332C>G	ENST00000349466.2	+	4	938	c.612C>G	c.(610-612)ctC>ctG	p.L204L	ATP2B3_ENST00000359149.3_Silent_p.L204L|ATP2B3_ENST00000263519.4_Silent_p.L204L|ATP2B3_ENST00000370186.1_Silent_p.L204L|ATP2B3_ENST00000370181.2_Silent_p.L204L|ATP2B3_ENST00000393842.1_Silent_p.L204L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	204					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGCTCCTCCAGGTCCCCG	0.622																																																	0													91	86	88					X																	152807332		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.612C>G	X.37:g.152807332C>G			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L204	ENST00000349466.2	37	c.612	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr		0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152807332	1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	0.617	G	G	152807332	C	G	152807332	2	3	160	1	0	0	0	0	0	0	0	1	1142	842	30	1		1	ATP2B3	23	152807332	Silent	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	4180086	152807332	2463228	2241	30514										
HCFC1	3054	genome.wustl.edu	37	chrX	153225702	153225702	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctacctgtctctaggtaccaGaggtccttgcagcagacctg	10	13	1	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153225702G>A	ENST00000310441.7	-	7	2034	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Silent_p.L356L|HCFC1_ENST00000369984.4_Silent_p.L356L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	356					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTAGGTACCAGAGGTCCTTGC	0.627																																																	0													36	40	39					X																	153225702		2037	4144	6181	SO:0001819	synonymous_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1068C>T	X.37:g.153225702G>A			Q6P4G5	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.L356	ENST00000310441.7	37	c.1068	CCDS44020.1	X																																																																																			HCFC1	-	NULL		0.627	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	G	NM_005334		153225702	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	silent	SNP	0.986	A	A	153225702	G	A	153225702	2	1	160	1	0	0	0	0	0	0	0	1	7011	929	33	1		1	HCFC1	23	153225702	Silent	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	418370	153225702	2044858	2242	30515										
HCFC1	3054	genome.wustl.edu	37	chrX	153225740	153225740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	ctggttgttccaggccttgcGgtagccgtcacgcccactcc	11	16	1	0			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153225740G>A	ENST00000310441.7	-	7	1996	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.R344C|HCFC1_ENST00000369984.4_Missense_Mutation_p.R344C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	344					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTGCGGTAGCCGTCA	0.642																																																	0													31	36	34					X																	153225740		2073	4171	6244	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1030C>T	X.37:g.153225740G>A	ENSP00000309555:p.Arg344Cys		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R344C	ENST00000310441.7	37	c.1030	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	31	5.063010	0.93898	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66995	-0.24;-0.24;3.82	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.84208	0.0454	10	0.87932	D	0	.	16.8686	0.86035	0.0:0.0:1.0:0.0	.	344	P51610	HCFC1_HUMAN	C	344	ENSP00000309555:R344C;ENSP00000359001:R344C;ENSP00000346174:R344C	ENSP00000309555:R344C	R	-	1	0	HCFC1	152878934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.654000	0.61469	2.244000	0.73946	0.600000	0.82982	CGC	HCFC1	-	NULL		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	G	NM_005334		153225740	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153225740	G	A	153225740	3	1	160	1	0	0	0	0	1	0	0	0	7011	1116	39	2	5157	2	HCFC1	23	153225740	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	38	153225740	2044820	2243	30516										
TKTL1	8277	genome.wustl.edu	37	chrX	153524261	153524261	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	tcccggaggaggccagacctGacaggggcaccttgcaggtg	16	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153524261G>A	ENST00000369915.3	+	1	238	c.49G>A	c.(49-51)Gac>Aac	p.D17N	TKTL1_ENST00000217905.7_5'UTR|TEX28_ENST00000369926.1_5'Flank	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	17					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCAGACCTGACAGGGGCAC	0.597																																																	0													110	97	101					X																	153524261		2203	4300	6503	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.49G>A	X.37:g.153524261G>A	ENSP00000358931:p.Asp17Asn		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.D17N	ENST00000369915.3	37	c.49	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841623	0.51057	.	.	ENSG00000007350	ENST00000369915	T	0.21932	1.98	4.53	2.6	0.31112	.	0.298370	0.30201	N	0.010175	T	0.20333	0.0489	M	0.64997	1.995	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.17433	0.018;0.018	T	0.04885	-1.0920	10	0.49607	T	0.09	-25.4134	7.3439	0.26652	0.1045:0.1663:0.7292:0.0	.	17;17	B7Z7I0;P51854	.;TKTL1_HUMAN	N	17	ENSP00000358931:D17N	ENSP00000358931:D17N	D	+	1	0	TKTL1	153177455	0.998000	0.40836	0.004000	0.12327	0.025000	0.11179	2.424000	0.44714	0.819000	0.34492	0.529000	0.55759	GAC	TKTL1	-	NULL		0.597	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	G	NM_012253		153524261	1	no_errors	ENST00000369915	ensembl	human	known	70_37	missense	SNP	0.764	A	A	153524261	G	A	153524261	3	1	160	1	0	0	0	0	1	0	0	0	15965	1290	45	1	51	1	TKTL1	23	153524261	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	298521	153524261	1746299	2244	30517										
PLXNA3	55558	genome.wustl.edu	37	chrX	153697543	153697543	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	actcccagcgtcccaaagctGaggacatggacctgggtgag	13	12	0	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:153697543G>A	ENST00000369682.3	+	26	4754	c.4579G>A	c.(4579-4581)Gag>Aag	p.E1527K	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1527					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCAAAGCTGAGGACATGGA	0.607																																																	0													78	63	68					X																	153697543		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4579G>A	X.37:g.153697543G>A	ENSP00000358696:p.Glu1527Lys		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1527K	ENST00000369682.3	37	c.4579	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513075	0.44660	.	.	ENSG00000130827	ENST00000369682	T	0.11712	2.75	5.57	4.71	0.59529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.121669	0.53938	N	0.000044	T	0.12603	0.0306	L	0.56199	1.76	0.49389	D	0.999787	B	0.23806	0.091	B	0.33121	0.158	T	0.03453	-1.1035	10	0.07644	T	0.81	.	12.5134	0.56017	0.0839:0.0:0.9161:0.0	.	1527	P51805	PLXA3_HUMAN	K	1527	ENSP00000358696:E1527K	ENSP00000358696:E1527K	E	+	1	0	PLXNA3	153350737	1.000000	0.71417	0.945000	0.38365	0.987000	0.75469	6.773000	0.75006	1.120000	0.41904	0.597000	0.82753	GAG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153697543	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	0.998	A	A	153697543	G	A	153697543	3	1	160	1	0	0	0	0	1	0	0	0	12145	1291	45	1	4677	1	PLXNA3	23	153697543	Missense_Mutation	SNP	G	TCGA-JW-A5VL-01A-11D-A28B-09	173282	153697543	1573017	2245	30518										
F8	2157	genome.wustl.edu	37	chrX	154159334	154159334	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.642664266426643	1428	0	4.4029042791773	4.84249236087475	3.91648570837439	2.87851805372628e-16	1.86144167474299e-14	1104	agtacctgctgccaaattgtCtgatggaattgttgaaatca	9	7	2	2			TCGA-JW-A5VL-01A-11D-A28B-09	TCGA-JW-A5VL-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63c6392f-5af1-4586-9b4c-ca1beb09fc9a	12582a88-5eb4-4234-a4e9-f19442bec145	g.chrX:154159334C>G	ENST00000360256.4	-	14	2931	c.2731G>C	c.(2731-2733)Gac>Cac	p.D911H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	911	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAAATTGTCTGATGGAATT	0.358																																																	0													57	54	55					X																	154159334		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2731G>C	X.37:g.154159334C>G	ENSP00000353393:p.Asp911His		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.D911H	ENST00000360256.4	37	c.2731	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	8.650	0.898040	0.17686	.	.	ENSG00000185010	ENST00000360256	D	0.99282	-5.68	5.19	2.25	0.28309	.	0.822733	0.11627	N	0.545138	D	0.98654	0.9549	M	0.69823	2.125	0.09310	N	0.999999	D	0.62365	0.991	P	0.54401	0.751	D	0.95654	0.8709	10	0.72032	D	0.01	-2.6917	4.3306	0.11062	0.0:0.6011:0.185:0.2139	.	911	P00451	FA8_HUMAN	H	911	ENSP00000353393:D911H	ENSP00000353393:D911H	D	-	1	0	F8	153812528	0.303000	0.24463	0.052000	0.19188	0.014000	0.08584	0.601000	0.24119	0.512000	0.28257	0.544000	0.68410	GAC	F8	-	NULL		0.358	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	C			154159334	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.078	G	G	154159334	C	G	154159334	3	3	160	1	0	0	0	0	1	0	0	0	5362	913	32	1	4404	1	F8	23	154159334	Missense_Mutation	SNP	C	TCGA-JW-A5VL-01A-11D-A28B-09	461791	154159334	1111226	2246	30519										
HSPB7	27129	genome.wustl.edu	37	chr1	16342139	16342139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tatgcgggtgacgccgtgccCggatagtgaggctgccgtcc	16	12	0	2	rs561575565		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:16342139C>T	ENST00000311890.9	-	3	1275	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	HSPB7_ENST00000411503.1_Missense_Mutation_p.R145Q|HSPB7_ENST00000487046.1_Missense_Mutation_p.R155Q|HSPB7_ENST00000375718.4_Missense_Mutation_p.R225Q|HSPB7_ENST00000406363.2_Missense_Mutation_p.R154Q	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	150					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCCGTGCCCGGATAGTGAG	0.637													C|||	1	0.000199681	0	0.0014	5008	,	,		16674	0		0	False		,,,				2504	0																0													107	87	94					1																	16342139		2203	4300	6503	SO:0001583	missense	27129			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.449G>A	1.37:g.16342139C>T	ENSP00000310111:p.Arg150Gln		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.R155Q	ENST00000311890.9	37	c.464	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569450	0.65765	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.172231	0.38217	N	0.001768	D	0.87505	0.6194	N	0.11818	0.18	0.80722	D	1	D;P;P;P;D	0.60575	0.988;0.852;0.852;0.78;0.966	P;B;B;B;P	0.51170	0.661;0.181;0.181;0.255;0.464	D	0.85919	0.1445	10	0.20519	T	0.43	-11.2927	14.9547	0.71104	0.0:1.0:0.0:0.0	.	225;171;171;238;150	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	Q	145;150;225;243;104;155;154	ENSP00000391578:R145Q;ENSP00000310111:R150Q;ENSP00000364870:R225Q;ENSP00000417966:R104Q;ENSP00000419477:R155Q;ENSP00000385472:R154Q	ENSP00000310111:R150Q	R	-	2	0	HSPB7	16214726	0.969000	0.33509	0.999000	0.59377	0.901000	0.52897	2.132000	0.42083	2.296000	0.77279	0.561000	0.74099	CGG	HSPB7	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP		0.637	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	C	NM_014424		16342139	-1	no_errors	ENST00000487046	ensembl	human	known	70_37	missense	SNP	0.994	T	T	16342139	C	T	16342139	3	4	161	1	0	0	0	0	1	0	0	0	7442	652	23	2	67	2	HSPB7	1	16342139	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		16342139	232908482	1	30520										
C1orf89	79363	genome.wustl.edu	37	chr1	16558560	16558560	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gactcattcaggagcactctCtggggggttgggaagcaggc	16	9	3	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:16558560C>T	ENST00000375599.3	-	5	1179	c.760G>A	c.(760-762)Gag>Aag	p.E254K	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	254	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGAGCACTCTCTGGGGGGTTG	0.637																																																	0													63	68	66					1																	16558560		2203	4300	6503	SO:0001583	missense	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.760G>A	1.37:g.16558560C>T	ENSP00000364749:p.Glu254Lys		Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.E254K	ENST00000375599.3	37	c.760	CCDS171.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698867	0.48307	.	.	ENSG00000132881	ENST00000375599	T	0.56275	0.47	5.47	4.56	0.56223	.	0.292350	0.32987	N	0.005417	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.22109	T	0.4	-3.7964	10.1968	0.43060	0.0:0.9088:0.0:0.0912	.	254	Q9BU20	RSG1_HUMAN	K	254	ENSP00000364749:E254K	ENSP00000364749:E254K	E	-	1	0	RSG1	16431147	0.717000	0.27966	0.165000	0.22776	0.169000	0.22640	3.150000	0.50662	1.305000	0.44909	-0.136000	0.14681	GAG	RSG1	-	NULL		0.637	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	C	NM_030907		16558560	-1	no_errors	ENST00000375599	ensembl	human	known	70_37	missense	SNP	0.140	T	T	16558560	C	T	16558560	3	4	161	1	0	0	0	0	1	0	0	0	2071	922	32	1	20	1	C1orf89	1	16558560	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	216421	16558560	232692061	2	30521										
GLIS1	148979	genome.wustl.edu	37	chr1	53980322	53980322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cccgggtgctctcagccatgGgcagaggggacagatggtgg	18	10	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:53980322G>T	ENST00000312233.2	-	7	1900	c.1334C>A	c.(1333-1335)cCc>cAc	p.P445H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCAGCCATGGGCAGAGGGGA	0.667																																																	0													94	95	95					1																	53980322		2203	4300	6503	SO:0001583	missense	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1334C>A	1.37:g.53980322G>T	ENSP00000309653:p.Pro445His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P445H	ENST00000312233.2	37	c.1334	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241737	0.58995	.	.	ENSG00000174332	ENST00000312233	T	0.11385	2.78	4.97	4.97	0.65823	.	0.000000	0.46145	D	0.000315	T	0.11367	0.0277	L	0.29908	0.895	0.32677	N	0.516057	B	0.33448	0.412	B	0.40101	0.319	T	0.11542	-1.0583	10	0.24483	T	0.36	.	14.452	0.67392	0.0:0.0:1.0:0.0	.	445	Q8NBF1	GLIS1_HUMAN	H	445	ENSP00000309653:P445H	ENSP00000309653:P445H	P	-	2	0	GLIS1	53752910	1.000000	0.71417	0.950000	0.38849	0.889000	0.51656	3.928000	0.56506	2.688000	0.91661	0.563000	0.77884	CCC	GLIS1	-	NULL		0.667	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	G	NM_147193		53980322	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	missense	SNP	0.974	T	T	53980322	G	T	53980322	3	4	161	1	0	0	0	0	1	0	0	0	6464	1232	43	4	544	4	GLIS1	1	53980322	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	37421762	53980322	195270299	3	30522										
IL12RB2	3595	genome.wustl.edu	37	chr1	67787470	67787470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	atggccactccctcaattctCaagtcacaggtcttcccctt	5	16	4	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:67787470C>A	ENST00000262345.1	+	3	902	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Q88K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Q88K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q88K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	88					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTCAATTCTCAAGTCACAGG	0.433																																																	0													175	166	169					1																	67787470		2203	4300	6503	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.262C>A	1.37:g.67787470C>A	ENSP00000262345:p.Gln88Lys		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q88K	ENST00000262345.1	37	c.262	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464224	0.26335	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.81	5.81	0.92471	Immunoglobulin C2-set-like, ligand-binding (1);	0.624908	0.18500	N	0.139379	T	0.60625	0.2283	L	0.32530	0.975	0.27628	N	0.948128	P;P;P;P	0.44195	0.777;0.631;0.561;0.828	B;B;B;B	0.43950	0.406;0.31;0.219;0.437	T	0.58335	-0.7654	10	0.27785	T	0.31	-6.831	15.5703	0.76330	0.0:1.0:0.0:0.0	.	88;88;88;88	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	K	88	ENSP00000262345:Q88K;ENSP00000360039:Q88K;ENSP00000445276:Q88K;ENSP00000442443:Q88K	ENSP00000262345:Q88K	Q	+	1	0	IL12RB2	67560058	0.012000	0.17670	0.560000	0.28344	0.007000	0.05969	2.283000	0.43470	2.739000	0.93911	0.650000	0.86243	CAA	IL12RB2	-	pfam_IgC2-like_lig-bd		0.433	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	C	NM_001559		67787470	1	no_errors	ENST00000262345	ensembl	human	known	70_37	missense	SNP	0.665	A	A	67787470	C	A	67787470	3	1	161	1	0	0	0	0	1	0	0	0	7647	827	29	3	268	3	IL12RB2	1	67787470	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	13807148	67787470	181463151	4	30523										
KCNA3	3738	genome.wustl.edu	37	chr1	111217029	111217029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gtcgaagtacctcatgcgccGcttggggtcgcccagcagcg	14	14	1	0	rs375569294		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:111217029G>A	ENST00000369769.2	-	1	626	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	135					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CTCATGCGCCGCTTGGGGTCG	0.647																																																	0													49	59	56					1																	111217029		2203	4300	6503	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.403C>T	1.37:g.111217029G>A	ENSP00000358784:p.Arg135Trp		Q5VWN2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R135W	ENST00000369769.2	37	c.403	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367937	0.61513	.	.	ENSG00000177272	ENST00000369769	T	0.77489	-1.1	4.52	3.55	0.40652	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.068710	0.56097	U	0.000040	D	0.87759	0.6258	M	0.93808	3.46	0.42283	D	0.9921	D	0.76494	0.999	D	0.72625	0.978	D	0.89757	0.3944	10	0.87932	D	0	.	10.7679	0.46305	0.0:0.0:0.5756:0.4244	.	135	P22001	KCNA3_HUMAN	W	135	ENSP00000358784:R135W	ENSP00000358784:R135W	R	-	1	2	KCNA3	111018552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.901000	0.56303	2.052000	0.61016	0.462000	0.41574	CGG	KCNA3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	G	NM_002232		111217029	-1	no_errors	ENST00000369769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111217029	G	A	111217029	3	1	161	1	0	0	0	0	1	0	0	0	8024	1086	38	2	1328	2	KCNA3	1	111217029	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	43429559	111217029	138033592	5	30524										
CHD1L	9557	genome.wustl.edu	37	chr1	146767152	146767152	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	agtctgctgtccttcatgcaCagtcttcatcttcctcctca	5	15	6	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:146767152C>T	ENST00000369258.4	+	23	2676	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	CHD1L_ENST00000431239.1_Nonsense_Mutation_p.Q792*|CHD1L_ENST00000369259.3_Nonsense_Mutation_p.Q682*|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Nonsense_Mutation_p.Q605*	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	886	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCTTCATGCACAGTCTTCATC	0.428																																																	0													128	114	119					1																	146767152		2203	4300	6503	SO:0001587	stop_gained	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2656C>T	1.37:g.146767152C>T	ENSP00000358262:p.Gln886*		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q886*	ENST00000369258.4	37	c.2656	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388223	0.82902	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	.	.	.	5.27	5.27	0.74061	.	0.470799	0.22495	N	0.059320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	.	.	.	X	792;682;886;605	.	ENSP00000355100:Q605X	Q	+	1	0	CHD1L	145233776	0.280000	0.24249	0.131000	0.22000	0.024000	0.10985	2.181000	0.42547	2.735000	0.93741	0.655000	0.94253	CAG	CHD1L	-	pfscan_A1pp		0.428	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	C	NM_004284		146767152	1	no_errors	ENST00000369258	ensembl	human	known	70_37	nonsense	SNP	0.379	T	T	146767152	C	T	146767152	4	4	161	1	0	0	0	0	0	1	0	0	3329	479	17	4	2746	4	CHD1L	1	146767152	Nonsense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	35550123	146767152	102483469	6	30525										
BAT2L2	23215	genome.wustl.edu	37	chr1	171504696	171504696	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	attatctggctatttcaaacAgtttcagaagtctttacctc	5	9	4	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:171504696A>T	ENST00000338920.4	+	13	2234	c.1997A>T	c.(1996-1998)cAg>cTg	p.Q666L	PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q666L|PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q668L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q668L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	666	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TATTTCAAACAGTTTCAGAAG	0.428																																																	0													141	152	148					1																	171504696		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1997A>T	1.37:g.171504696A>T	ENSP00000343629:p.Gln666Leu		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.Q668L	ENST00000338920.4	37	c.2003	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915004	0.52546	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.38	5.38	0.77491	.	0.000000	0.44483	D	0.000450	T	0.18467	0.0443	M	0.61703	1.905	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.00675	-1.1615	10	0.87932	D	0	.	15.3996	0.74827	1.0:0.0:0.0:0.0	.	666	Q9Y520-4	.	L	668;667;666;668;666;423;425	ENSP00000375928:Q668L;ENSP00000410219:Q666L;ENSP00000356716:Q668L;ENSP00000343629:Q666L	ENSP00000343629:Q666L	Q	+	2	0	PRRC2C	169771320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.756000	0.74919	2.031000	0.59945	0.533000	0.62120	CAG	PRRC2C	-	NULL		0.428	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	A	NM_015172		171504696	1	no_errors	ENST00000392078	ensembl	human	known	70_37	missense	SNP	1.000	T	T	171504696	A	T	171504696	3	4	161	1	0	0	0	0	1	0	0	0	1322	188	7	5	2043	5	BAT2L2	1	171504696	Missense_Mutation	SNP	A	TCGA-JW-A69B-01A-11D-A32I-09	24737544	171504696	77745925	7	30526										
CR2	1380	genome.wustl.edu	37	chr1	207642171	207642171	+	Frame_Shift_Del	DEL	T	T	-													0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gctgtaaatctctaggacgaTttcccaatgggaaggtaaag							TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:207642171delT	ENST00000367058.3	+	4	850	c.661delT	c.(661-663)tttfs	p.F221fs	CR2_ENST00000458541.2_Frame_Shift_Del_p.F221fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.F221fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Del_p.F221fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	221	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTAGGACGATTTCCCAATGG	0.393																																																	0													94	89	91					1																	207642171		2203	4300	6503	SO:0001589	frameshift_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.661delT	1.37:g.207642171delT	ENSP00000356025:p.Phe221fs		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.N223fs	ENST00000367058.3	37	c.661	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.393	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	T	NM_001877		207642171	1	no_errors	ENST00000367057	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-	-	207642171	T	-	207642171	7	5	161	1	0	1	0	1	0	0	0	0	3847	1493	52	0	675	0	CR2	1	207642171	Frame_Shift_Del	DEL	T	TCGA-JW-A69B-01A-11D-A32I-09	36137475	207642171	41608450	8	30527										
PCNXL2	80003	genome.wustl.edu	37	chr1	233152734	233152734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgcagaagctagctcgtgtgAtcccctggagacacgggacg	14	11	0	3	rs567156613		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:233152734A>G	ENST00000258229.9	-	27	5006	c.4772T>C	c.(4771-4773)aTc>aCc	p.I1591T	PCNXL2_ENST00000344698.2_Missense_Mutation_p.I243T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1591						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCTCGTGTGATCCCCTGGAG	0.493																																																	0													128	125	126					1																	233152734		1986	4167	6153	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4772T>C	1.37:g.233152734A>G	ENSP00000258229:p.Ile1591Thr		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.I1591T	ENST00000258229.9	37	c.4772	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864819	0.91511	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.35789	1.29;2.33	5.8	5.8	0.92144	.	0.097082	0.64402	D	0.000002	T	0.61286	0.2335	M	0.78456	2.415	0.80722	D	1	D;D	0.67145	0.996;0.982	D;P	0.67900	0.954;0.802	T	0.66176	-0.5989	10	0.87932	D	0	.	16.1384	0.81506	1.0:0.0:0.0:0.0	.	1591;243	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	T	243;1591	ENSP00000340759:I243T;ENSP00000258229:I1591T	ENSP00000258229:I1591T	I	-	2	0	PCNXL2	231219357	1.000000	0.71417	0.115000	0.21578	0.973000	0.67179	8.905000	0.92613	2.205000	0.71048	0.533000	0.62120	ATC	PCNXL2	-	NULL		0.493	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	A	NM_014801		233152734	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.935	G	G	233152734	A	G	233152734	3	3	161	1	0	0	0	0	1	0	0	0	11616	333	12	5	1673	5	PCNXL2	1	233152734	Missense_Mutation	SNP	A	TCGA-JW-A69B-01A-11D-A32I-09	25510563	233152734	16097887	9	30528										
RYR2	6262	genome.wustl.edu	37	chr1	237729972	237729972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gtggtattttgaatttgagaCggtcactgctggagacatga	13	5	1	4	rs200236750		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:237729972C>T	ENST00000366574.2	+	28	3637	c.3320C>T	c.(3319-3321)aCg>aTg	p.T1107M	RYR2_ENST00000542537.1_Missense_Mutation_p.T1091M|RYR2_ENST00000360064.6_Missense_Mutation_p.T1105M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1107	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T1105M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTTGAGACGGTCACTGCT	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)						C	MET/THR	0,4016		0,0,2008	177	177	177		3320	5.4	1	1		177	5,8333		0,5,4164	yes	missense	RYR2	NM_001035.2	81	0,5,6172	TT,TC,CC		0.06,0.0,0.0405	possibly-damaging	1107/4968	237729972	5,12349	2008	4169	6177	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3320C>T	1.37:g.237729972C>T	ENSP00000355533:p.Thr1107Met		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.T1105M	ENST00000366574.2	37	c.3314	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189986	0.58017	0.0	6.0E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68624	-0.34;-0.34;-0.34	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.283792	0.27764	N	0.017960	T	0.61986	0.2391	L	0.47716	1.5	0.80722	D	1	P	0.37038	0.579	B	0.32533	0.147	T	0.66468	-0.5916	10	0.62326	D	0.03	.	19.1954	0.93686	0.0:1.0:0.0:0.0	.	1107	Q92736	RYR2_HUMAN	M	1107;1105;1091	ENSP00000355533:T1107M;ENSP00000353174:T1105M;ENSP00000443798:T1091M	ENSP00000353174:T1105M	T	+	2	0	RYR2	235796595	0.866000	0.29940	0.997000	0.53966	0.941000	0.58515	1.727000	0.38095	2.536000	0.85505	0.655000	0.94253	ACG	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237729972	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237729972	C	T	237729972	3	4	161	1	0	0	0	0	1	0	0	0	13799	536	19	2	3430	2	RYR2	1	237729972	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	4577238	237729972	11520649	10	30529										
FH	2271	genome.wustl.edu	37	chr1	241680522	241680522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctccaatcttaaagttcatcGtagatctcacggtctgggcg	9	11	4	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr1:241680522G>A	ENST00000366560.3	-	2	265	c.227C>T	c.(226-228)aCg>aTg	p.T76M	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	76					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AAAGTTCATCGTAGATCTCAC	0.423			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)		yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	0													150	135	140					1																	241680522		2203	4300	6503	SO:0001583	missense	2271	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.227C>T	1.37:g.241680522G>A	ENSP00000355518:p.Thr76Met		B1ANK7	Missense_Mutation	SNP	pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII	p.T76M	ENST00000366560.3	37	c.227	CCDS1617.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519741	0.44866	.	.	ENSG00000091483	ENST00000366560	D	0.99594	-6.25	5.75	4.83	0.62350	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.146224	0.64402	D	0.000008	D	0.97009	0.9023	N	0.02802	-0.49	0.80722	D	1	B	0.19817	0.039	B	0.16722	0.016	D	0.94910	0.8064	10	0.59425	D	0.04	-4.6703	14.1876	0.65617	0.0:0.0:0.8491:0.1509	.	76	P07954	FUMH_HUMAN	M	76	ENSP00000355518:T76M	ENSP00000355518:T76M	T	-	2	0	FH	239747145	1.000000	0.71417	0.661000	0.29709	0.799000	0.45148	7.537000	0.82033	1.552000	0.49463	0.650000	0.86243	ACG	FH	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII		0.423	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FH	HGNC	protein_coding	OTTHUMT00000095490.1	G	NM_000143		241680522	-1	no_errors	ENST00000366560	ensembl	human	known	70_37	missense	SNP	1.000	A	A	241680522	G	A	241680522	3	1	161	1	0	0	0	0	1	0	0	0	5893	1145	40	2	1341	2	FH	1	241680522	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	3950550	241680522	7570099	11	30530										
KCNS3	3790	genome.wustl.edu	37	chr2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cgtgcattgcctggttcaccGgggagcttgccgtccggctg	15	13	1	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:18112978G>A	ENST00000403915.1	+	3	1154	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.G235R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	235					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517																																																	0													87	86	86					2																	18112978		2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.703G>A	2.37:g.18112978G>A	ENSP00000385968:p.Gly235Arg		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.G235R	ENST00000403915.1	37	c.703	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220989	0.22457	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98437	-4.93;-4.93	6.07	4.28	0.50868	Ion transport (1);	0.484707	0.23690	N	0.045530	D	0.95551	0.8554	L	0.43923	1.385	0.09310	N	1	P	0.38167	0.621	B	0.37833	0.259	D	0.91363	0.5113	10	0.66056	D	0.02	.	6.4072	0.21670	0.1353:0.0:0.6137:0.251	.	235	Q9BQ31	KCNS3_HUMAN	R	235	ENSP00000385968:G235R;ENSP00000305824:G235R	ENSP00000305824:G235R	G	+	1	0	KCNS3	17976459	0.013000	0.17824	0.318000	0.25279	0.979000	0.70002	1.050000	0.30404	0.894000	0.36317	0.655000	0.94253	GGG	KCNS3	-	pfam_Ion_trans_dom,prints_K_chnl		0.517	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	G	NM_002252		18112978	1	no_errors	ENST00000304101	ensembl	human	known	70_37	missense	SNP	0.043	A	A	18112978	G	A	18112978	3	1	161	1	0	0	0	0	1	0	0	0	8110	1116	39	2	705	2	KCNS3	2	18112978	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		18112978	225086395	12	30531										
POMC	5443	genome.wustl.edu	37	chr2	25384145	25384145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	agcaggctgtgctccaggtcGgcctgggcccctgcgccgtc	15	16	0	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:25384145G>A	ENST00000405623.1	-	3	1064	c.609C>T	c.(607-609)gcC>gcT	p.A203A	POMC_ENST00000264708.3_Silent_p.A203A|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_Silent_p.A203A|POMC_ENST00000395826.2_Silent_p.A203A			P01189	COLI_HUMAN	proopiomelanocortin	203					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCTCCAGGTCGGCCTGGGCCC	0.701																																					Colon(110;1515 1566 8452 10082 43216)												0													17	18	18					2																	25384145		2201	4299	6500	SO:0001819	synonymous_variant	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.609C>T	2.37:g.25384145G>A			P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.A203	ENST00000405623.1	37	c.609	CCDS1717.1	2																																																																																			POMC	-	NULL		0.701	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	G	NM_001035256		25384145	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	silent	SNP	0.153	A	A	25384145	G	A	25384145	2	1	161	1	0	0	0	0	0	0	0	1	12266	1103	39	2		2	POMC	2	25384145	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	7271167	25384145	217815228	13	30532										
TIA1	7072	genome.wustl.edu	37	chr2	70456452	70456453	+	Splice_Site	INS	-	-	A													0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ccaattcactttgacttcctINSaaaaaaaaaaaatttctaca							TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:70456452_70456453insA	ENST00000433529.2	-	4	433		c.e4-2		TIA1_ENST00000282574.4_Splice_Site|TIA1_ENST00000416149.2_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Splice_Site|TIA1_ENST00000415783.2_Splice_Site	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTTGACTTCCTAAAAAAAAAAA	0.292																																																	0																																										SO:0001630	splice_region_variant	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.223-2->T	2.37:g.70456463_70456463dupA			Q53SS9	Splice_Site	INS	-	e4-2	ENST00000433529.2	37	c.223-3_223-2	CCDS1901.1	2																																																																																			TIA1	-	-		0.292	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	-	NM_022037	Intron	70456453	-1	no_errors	ENST00000433529	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.990	A	A	70456453	-	A	70456452	8	5	161	1	0	1	1	0	0	0	1	0	15917	1536	53	0	979	0	TIA1	2	70456452	Splice_Site	INS	-	TCGA-JW-A69B-01A-11D-A32I-09	45072307	70456452	172742921	14	30533										
CTNNA2	1496	genome.wustl.edu	37	chr2	80816449	80816449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gccatcatggcgcaactaccGcaggaggagaaggcaaaaat	12	10	1	1	rs199921745		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:80816449G>A	ENST00000402739.4	+	14	2033	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	CTNNA2_ENST00000540488.1_Silent_p.P676P|CTNNA2_ENST00000466387.1_Silent_p.P676P|CTNNA2_ENST00000361291.4_Silent_p.P710P|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Silent_p.P355P|CTNNA2_ENST00000541047.1_Silent_p.P676P|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Silent_p.P676P|AC008067.2_ENST00000430876.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	676					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCAACTACCGCAGGAGGAGA	0.517																																																	0													69	74	72					2																	80816449		2182	4295	6477	SO:0001819	synonymous_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2028G>A	2.37:g.80816449G>A			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.P710	ENST00000402739.4	37	c.2130		2																																																																																			CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	G	NM_004389		80816449	1	no_errors	ENST00000361291	ensembl	human	known	70_37	silent	SNP	0.133	A	A	80816449	G	A	80816449	2	1	161	1	0	0	0	0	0	0	0	1	4018	1074	38	2		2	CTNNA2	2	80816449	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	10359997	80816449	162382924	15	30534										
DPP10	57628	genome.wustl.edu	37	chr2	116101413	116101413	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	atgaactcacaaattcgtcaGaaaccagattgtctttggaa	7	8	3	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:116101413G>T	ENST00000410059.1	+	3	676	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.E16*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.E59*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.E70*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	66						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAATTCGTCAGAAACCAGATT	0.343																																																	0													89	93	92					2																	116101413		2203	4300	6503	SO:0001587	stop_gained	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.196G>T	2.37:g.116101413G>T	ENSP00000386565:p.Glu66*		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.E70*	ENST00000410059.1	37	c.208	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.322525	0.98210	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	.	.	.	5.85	5.85	0.93711	.	0.210694	0.40640	N	0.001051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-11.1802	15.6508	0.77091	0.0:0.0:1.0:0.0	.	.	.	.	X	16;66;16;62;70;59;16;16	.	ENSP00000309066:E59X	E	+	1	0	DPP10	115817883	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.287000	0.65645	2.768000	0.95171	0.585000	0.79938	GAA	DPP10	-	NULL		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	G	NM_020868		116101413	1	no_errors	ENST00000393147	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	116101413	G	T	116101413	4	4	161	1	0	0	0	0	0	1	0	0	4737	943	33	3	377	3	DPP10	2	116101413	Nonsense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	35284964	116101413	127097960	16	30535										
TTLL4	9654	genome.wustl.edu	37	chr2	219603344	219603344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aacttagccatgagggcagaGccactttcctgtgctctgga	11	11	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:219603344G>T	ENST00000392102.1	+	3	1285	c.945G>T	c.(943-945)gaG>gaT	p.E315D	TTLL4_ENST00000442769.1_Missense_Mutation_p.E315D|TTLL4_ENST00000457313.1_Missense_Mutation_p.E150D|TTLL4_ENST00000258398.4_Missense_Mutation_p.E315D	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	315					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGGGCAGAGCCACTTTCCT	0.532																																					GBM(172;1818 2053 15407 20943 49753)												0													114	108	110					2																	219603344		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.945G>T	2.37:g.219603344G>T	ENSP00000375951:p.Glu315Asp		A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E315D	ENST00000392102.1	37	c.945	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	G	8.506	0.865352	0.17250	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04970	3.76;4.0;3.52;4.0	4.53	3.65	0.41850	.	0.289946	0.24815	N	0.035373	T	0.05593	0.0147	L	0.32530	0.975	0.09310	N	1	B;B;B	0.14805	0.001;0.011;0.011	B;B;B	0.10450	0.002;0.005;0.005	T	0.29212	-1.0019	10	0.62326	D	0.03	.	7.5026	0.27526	0.0921:0.1673:0.7405:0.0	.	150;315;315	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	D	150;315;315;315	ENSP00000393332:E150D;ENSP00000375951:E315D;ENSP00000396555:E315D;ENSP00000258398:E315D	ENSP00000258398:E315D	E	+	3	2	TTLL4	219311588	1.000000	0.71417	0.341000	0.25589	0.259000	0.26198	2.990000	0.49401	1.129000	0.42072	0.563000	0.77884	GAG	TTLL4	-	NULL		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	G	NM_014640		219603344	1	no_errors	ENST00000258398	ensembl	human	known	70_37	missense	SNP	0.351	T	T	219603344	G	T	219603344	3	4	161	1	0	0	0	0	1	0	0	0	16760	962	34	4	947	4	TTLL4	2	219603344	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	103501931	219603344	23596029	17	30536										
FAM124B	79843	genome.wustl.edu	37	chr2	225244417	225244417	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	caagtggcaaaggagagactCtttccttaaggacactgttg	11	8	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr2:225244417C>A	ENST00000409685.3	-	2	1506	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	FAM124B_ENST00000389874.3_3'UTR	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	414										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGGAGAGACTCTTTCCTTAAG	0.488																																																	0													61	58	59					2																	225244417		692	1591	2283	SO:0001583	missense	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.1241G>T	2.37:g.225244417C>A	ENSP00000386895:p.Arg414Ile		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.R414I	ENST00000409685.3	37	c.1241	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132058	0.21041	.	.	ENSG00000124019	ENST00000409685	T	0.33654	1.4	6.03	4.19	0.49359	.	.	.	.	.	T	0.34948	0.0915	L	0.27053	0.805	0.80722	D	1	P	0.37158	0.585	P	0.48425	0.577	T	0.13818	-1.0495	9	0.40728	T	0.16	0.0787	9.6074	0.39641	0.0:0.7831:0.1411:0.0759	.	414	Q9H5Z6	F124B_HUMAN	I	414	ENSP00000386895:R414I	ENSP00000386895:R414I	R	-	2	0	FAM124B	224952661	0.028000	0.19301	0.368000	0.25939	0.045000	0.14185	0.767000	0.26575	1.578000	0.49821	0.650000	0.86243	AGA	FAM124B	-	NULL		0.488	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	C	NM_024785		225244417	-1	no_errors	ENST00000409685	ensembl	human	known	70_37	missense	SNP	0.769	A	A	225244417	C	A	225244417	3	1	161	1	0	0	0	0	1	0	0	0	5441	913	32	3	130	3	FAM124B	2	225244417	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	5641073	225244417	17954956	18	30537										
GOLGA4	2803	genome.wustl.edu	37	chr3	37337603	37337603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tctactgaaacaacgattacGaaatggcccgatgaatgttg	9	8	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:37337603G>T	ENST00000361924.2	+	7	1081	c.707G>T	c.(706-708)cGa>cTa	p.R236L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R258L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	236					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAACGATTACGAAATGGCCCG	0.388																																																	0													114	118	116					3																	37337603		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.707G>T	3.37:g.37337603G>T	ENSP00000354486:p.Arg236Leu		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R236L	ENST00000361924.2	37	c.707	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921259	0.52653	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.73	0.765	0.18470	.	0.316719	0.17703	N	0.164849	T	0.20210	0.0486	L	0.51422	1.61	0.23314	N	0.997927	B;B;B	0.30634	0.288;0.288;0.23	B;B;B	0.29524	0.042;0.103;0.071	T	0.13602	-1.0503	10	0.46703	T	0.11	.	7.1864	0.25801	0.6641:0.0:0.3359:0.0	.	236;258;236	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	L	236;258;241;107	ENSP00000354486:R236L;ENSP00000349305:R258L;ENSP00000387633:R241L;ENSP00000405842:R107L	ENSP00000349305:R258L	R	+	2	0	GOLGA4	37312607	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	0.657000	0.24963	0.272000	0.22027	0.467000	0.42956	CGA	GOLGA4	-	superfamily_Prefoldin		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37337603	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.999	T	T	37337603	G	T	37337603	3	4	161	1	0	0	0	0	1	0	0	0	6574	1058	37	3	803	3	GOLGA4	3	37337603	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		37337603	160684827	19	30538										
CELSR3	1951	genome.wustl.edu	37	chr3	48697842	48697842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	acgtccagcacagtcacggtGacactggctgaggcagagag	14	11	1	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:48697842G>A	ENST00000164024.4	-	1	2506	c.2226C>T	c.(2224-2226)gtC>gtT	p.V742V	CELSR3_ENST00000544264.1_Silent_p.V742V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	742	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTCACGGTGACACTGGCTG	0.562																																																	0													90	84	86					3																	48697842		2203	4300	6503	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2226C>T	3.37:g.48697842G>A			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V742	ENST00000164024.4	37	c.2226	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.562	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48697842	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	silent	SNP	0.995	A	A	48697842	G	A	48697842	2	1	161	1	0	0	0	0	0	0	0	1	3228	1277	45	1		1	CELSR3	3	48697842	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	11360239	48697842	149324588	20	30539										
COL6A5	256076	genome.wustl.edu	37	chr3	130095513	130095513	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ggggtgaaaattatctccgtGggggtgcagaaagcttctga	15	6	2	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:130095513G>T	ENST00000432398.2	+	3	995	c.501G>T	c.(499-501)gtG>gtT	p.V167V	COL6A5_ENST00000265379.6_Silent_p.V167V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	167	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTATCTCCGTGGGGGTGCAGA	0.502																																																	0													75	78	77					3																	130095513		692	1591	2283	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.501G>T	3.37:g.130095513G>T			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V167	ENST00000432398.2	37	c.501		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130095513	1	no_errors	ENST00000265379	ensembl	human	known	70_37	silent	SNP	1.000	T	T	130095513	G	T	130095513	2	4	161	1	0	0	0	0	0	0	0	1	3707	1335	47	4		4	COL6A5	3	130095513	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	81397671	130095513	67926917	21	30540										
ZBBX	79740	genome.wustl.edu	37	chr3	167068260	167068260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cccctttctggtgaactttaGcaaagcatcctgaacaataa	6	11	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:167068260G>T	ENST00000392766.2	-	9	816	c.476C>A	c.(475-477)gCt>gAt	p.A159D	ZBBX_ENST00000455345.2_Missense_Mutation_p.A159D|ZBBX_ENST00000307529.5_Missense_Mutation_p.A159D|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.A130D|ZBBX_ENST00000392767.2_Missense_Mutation_p.A159D	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	159						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTGAACTTTAGCAAAGCATCC	0.299																																																	0													189	180	183					3																	167068260		1811	4072	5883	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.476C>A	3.37:g.167068260G>T	ENSP00000376519:p.Ala159Asp		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.A159D	ENST00000392766.2	37	c.476	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133571	0.77662	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.35	5.71	5.71	0.89125	Zinc finger, B-box (1);	0.000000	0.31949	U	0.006807	T	0.60792	0.2296	L	0.50333	1.59	0.45867	D	0.998729	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61510	-0.7048	10	0.87932	D	0	-11.6741	17.3454	0.87308	0.0:0.0:1.0:0.0	.	159;159	A8MT70-2;A8MT70	.;ZBBX_HUMAN	D	159;159;159;159;130;159	ENSP00000376519:A159D;ENSP00000376520:A159D;ENSP00000390232:A159D;ENSP00000305065:A159D;ENSP00000376517:A130D;ENSP00000419307:A159D	ENSP00000305065:A159D	A	-	2	0	ZBBX	168550954	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.373000	0.73128	2.685000	0.91497	0.585000	0.79938	GCT	ZBBX	-	pfam_Znf_B-box		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167068260	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	1.000	T	T	167068260	G	T	167068260	3	4	161	1	0	0	0	0	1	0	0	0	17547	971	34	4	1978	4	ZBBX	3	167068260	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	36972747	167068260	30954170	22	30541										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	161	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	11867822	178936082	19086348	23	30542										
ABCC5	10057	genome.wustl.edu	37	chr3	183669264	183669264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tggaaaacctgttgagaatcCtccctgtgggggtcgtgtca	13	9	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr3:183669264C>A	ENST00000334444.6	-	20	3149	c.2909G>T	c.(2908-2910)aGg>aTg	p.R970M	ABCC5_ENST00000265586.6_Missense_Mutation_p.R970M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	970	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GTTGAGAATCCTCCCTGTGGG	0.498																																																	0													74	75	75					3																	183669264		1891	4132	6023	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2909G>T	3.37:g.183669264C>A	ENSP00000333926:p.Arg970Met		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R970M	ENST00000334444.6	37	c.2909	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.207854	0.95033	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.95171	-3.63;-3.63	6.11	6.11	0.99139	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98545	1.0634	10	0.87932	D	0	-25.2668	20.7342	0.99715	0.0:1.0:0.0:0.0	.	970;970	Q86UX3;O15440	.;MRP5_HUMAN	M	970	ENSP00000333926:R970M;ENSP00000265586:R970M	ENSP00000265586:R970M	R	-	2	0	ABCC5	185151958	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.906000	0.99361	0.655000	0.94253	AGG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.498	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	C	NM_005688		183669264	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183669264	C	A	183669264	3	1	161	1	0	0	0	0	1	0	0	0	56	681	24	4	1448	4	ABCC5	3	183669264	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	4733182	183669264	14353166	24	30543										
AFAP1	60312	genome.wustl.edu	37	chr4	7873707	7873707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gactgtattcttagcagaatGttggttatcactgccttttt	8	7	2	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:7873707G>T	ENST00000360265.4	-	1	333	c.99C>A	c.(97-99)aaC>aaA	p.N33K	AFAP1_ENST00000382543.3_Missense_Mutation_p.N33K|AFAP1_ENST00000358461.2_Missense_Mutation_p.N33K|AFAP1_ENST00000420658.1_Missense_Mutation_p.N33K			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTAGCAGAATGTTGGTTATCA	0.398																																																	0													291	256	268					4																	7873707		2203	4300	6503	SO:0001583	missense	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.99C>A	4.37:g.7873707G>T	ENSP00000353402:p.Asn33Lys		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N33K	ENST00000360265.4	37	c.99	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942728	0.53079	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.38	3.62	0.41486	.	0.050427	0.85682	D	0.000000	T	0.32071	0.0817	L	0.46157	1.445	0.42916	D	0.994274	P;B	0.37688	0.605;0.321	B;B	0.29176	0.099;0.073	T	0.37957	-0.9683	10	0.62326	D	0.03	-52.8524	12.1288	0.53932	0.1257:0.0:0.8743:0.0	.	33;33	E9PDT7;Q8N556	.;AFAP1_HUMAN	K	33	ENSP00000353402:N33K;ENSP00000410689:N33K;ENSP00000351245:N33K;ENSP00000371983:N33K	ENSP00000351245:N33K	N	-	3	2	AFAP1	7924607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.580000	0.46068	2.532000	0.85374	0.650000	0.86243	AAC	AFAP1	-	NULL		0.398	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	G	NM_021638		7873707	-1	no_errors	ENST00000420658	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7873707	G	T	7873707	3	4	161	1	0	0	0	0	1	0	0	0	353	1368	48	4	2413	4	AFAP1	4	7873707	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		7873707	183280569	25	30544										
ATP8A1	10396	genome.wustl.edu	37	chr4	42554617	42554617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	taagaaattcacatattataGgtgcagttggctgtgaaaaa	9	4	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:42554617G>T	ENST00000381668.5	-	17	1655	c.1424C>A	c.(1423-1425)cCt>cAt	p.P475H	ATP8A1_ENST00000264449.10_Missense_Mutation_p.P460H	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	475					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACATATTATAGGTGCAGTTGG	0.373																																																	0													106	97	100					4																	42554617		2203	4300	6503	SO:0001583	missense	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1424C>A	4.37:g.42554617G>T	ENSP00000371084:p.Pro475His		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.P475H	ENST00000381668.5	37	c.1424	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874319	0.91664	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.69806	-0.43;-0.43	5.9	5.9	0.94986	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.123056	0.53938	D	0.000044	T	0.78451	0.4285	L	0.49256	1.55	0.80722	D	1	D;P;P	0.63046	0.992;0.909;0.86	P;D;P	0.64687	0.667;0.928;0.726	T	0.77278	-0.2647	10	0.54805	T	0.06	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	460;460;475	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	H	475;460	ENSP00000371084:P475H;ENSP00000264449:P460H	ENSP00000264449:P460H	P	-	2	0	ATP8A1	42249374	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.708000	0.68377	2.798000	0.96311	0.650000	0.86243	CCT	ATP8A1	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.373	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	G	NM_006095		42554617	-1	no_errors	ENST00000381668	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42554617	G	T	42554617	3	4	161	1	0	0	0	0	1	0	0	0	1193	1000	35	4	2154	4	ATP8A1	4	42554617	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	34680910	42554617	148599659	26	30545										
GRXCR1	389207	genome.wustl.edu	37	chr4	42895397	42895397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gtgtatgaagatgggcaaccGtcaggctctctggattctga	13	8	3	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:42895397G>A	ENST00000399770.2	+	1	114	c.114G>A	c.(112-114)ccG>ccA	p.P38P	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	38			P -> L (in DFNB25). {ECO:0000269|PubMed:20137774}.		auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATGGGCAACCGTCAGGCTCTC	0.517																																																	0													165	170	169					4																	42895397		1985	4172	6157	SO:0001819	synonymous_variant	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.114G>A	4.37:g.42895397G>A				Silent	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.P38	ENST00000399770.2	37	c.114	CCDS43225.1	4																																																																																			GRXCR1	-	NULL		0.517	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	G	NM_001080476		42895397	1	no_errors	ENST00000399770	ensembl	human	known	70_37	silent	SNP	0.000	A	A	42895397	G	A	42895397	2	1	161	1	0	0	0	0	0	0	0	1	6832	1132	40	2		2	GRXCR1	4	42895397	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	340780	42895397	148258879	27	30546										
NFXL1	152518	genome.wustl.edu	37	chr4	47880600	47880600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgtggcattctttcatacatGtgtgattctgacaatccaag	8	8	3	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:47880600G>T	ENST00000507489.1	-	17	2197	c.2021C>A	c.(2020-2022)aCa>aAa	p.T674K	NFXL1_ENST00000381538.3_Missense_Mutation_p.T674K|NFXL1_ENST00000329043.3_Missense_Mutation_p.T674K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	674						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTCATACATGTGTGATTCTG	0.373																																																	0													204	200	201					4																	47880600		2203	4300	6503	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2021C>A	4.37:g.47880600G>T	ENSP00000422037:p.Thr674Lys		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.T674K	ENST00000507489.1	37	c.2021	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086682	0.20390	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.21734	1.99;1.99;1.99	5.33	2.62	0.31277	.	0.334719	0.30859	N	0.008735	T	0.10981	0.0268	N	0.25485	0.75	0.40556	D	0.981165	B	0.15719	0.014	B	0.18263	0.021	T	0.23797	-1.0178	10	0.02654	T	1	-5.4526	7.9143	0.29808	0.1396:0.0:0.7295:0.131	.	674	Q6ZNB6	NFXL1_HUMAN	K	674	ENSP00000370949:T674K;ENSP00000422037:T674K;ENSP00000333113:T674K	ENSP00000333113:T674K	T	-	2	0	NFXL1	47575357	0.869000	0.29996	0.572000	0.28498	0.959000	0.62525	1.144000	0.31565	0.224000	0.20940	0.591000	0.81541	ACA	NFXL1	-	NULL		0.373	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	G	NM_152995		47880600	-1	no_errors	ENST00000381538	ensembl	human	known	70_37	missense	SNP	0.810	T	T	47880600	G	T	47880600	3	4	161	1	0	0	0	0	1	0	0	0	10412	1377	48	4	742	4	NFXL1	4	47880600	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	4985203	47880600	143273676	28	30547										
YTHDC1	91746	genome.wustl.edu	37	chr4	69188587	69188587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	acaagtcaatactttcatcgGggggaaacagaagacaaagc	10	8	2	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:69188587G>T	ENST00000344157.4	-	11	1816	c.1481C>A	c.(1480-1482)cCc>cAc	p.P494H	YTHDC1_ENST00000355665.3_Missense_Mutation_p.P476H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.P494H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	494					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTTTCATCGGGGGGAAACAG	0.418																																																	0													87	92	90					4																	69188587		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1481C>A	4.37:g.69188587G>T	ENSP00000339245:p.Pro494His		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.P494H	ENST00000344157.4	37	c.1481	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399685	0.25291	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.23552	1.91;1.9	6.06	6.06	0.98353	.	0.310059	0.36338	N	0.002654	T	0.283